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	A	T	G	C	Cg	cG	tCw	wGa	tCa	tGa	tCt	aGa	tC	Ga	tCh	dGa	cC	Gg	wrC	Gyw	Cc	gG	wA	Tw	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	a_counts	t_counts	g_counts	c_counts	cg_counts	tcw_counts	wga_counts	tca_counts	tga_counts	tct_counts	aga_counts	tc_counts	ga_counts	tch_counts	dga_counts	cc_counts	gg_counts	wrc_counts	gyw_counts	cc_counts	gg_counts	wa_counts	tw_counts	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	isArtifactMode	oxoGCut	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
SLC2A7	155184	broad.mit.edu	37	chr1	9086388	9086388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgggtggaggggttcccGcctctttgttctccatcctt	4	14	12	11	1	2	0	0	0	2	0	5	2	4	1	4	4	0	2	4	4	1	4	rs150973958	byFrequency	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:9086388G>T	ENST00000400906.1	-	1	16	c.17C>A	c.(16-18)gCg>gAg	p.A6E		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	6						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGGGGTTCCCGCCTCTTTGTT	0.582													7	24					1.06961e-07	1.13253e-07	1	0	T	9086388	G	T	9086388	3	4	1	1	0	0	0	0	1	0	0	0	14638	1087	38	3	1569	3	SLC2A7	1	9086388	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08		9086388	240164233	1	1											
VPS13D	55187	broad.mit.edu	37	chr1	12423152	12423152	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaatcccgaaggttacAtttccacccttcctggttcc	8	11	6	16	1	0	0	0	0	0	0	4	1	4	0	6	2	2	2	6	2	3	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:12423152A>T	ENST00000358136.3	+	52	10427	c.10297A>T	c.(10297-10299)Att>Ttt	p.I3433F	VPS13D_ENST00000356315.4_Missense_Mutation_p.I3408F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3432					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGAAGGTTACATTTCCACCCT	0.448													82	204					0	0	0	0	T	12423152	A	T	12423152	3	4	1	1	0	0	0	0	1	0	0	0	17288	217	8	5	10499	5	VPS13D	1	12423152	Missense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08	3336764	12423152	236827469	2	2											
BEND5	79656	broad.mit.edu	37	chr1	49202065	49202065	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtacttggaatctccttgGgttacttgtagctggtgcca	6	15	12	8	0	1	0	0	0	1	0	2	1	1	1	2	3	4	4	2	3	4	6			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:49202065G>C	ENST00000371833.3	-	5	1040	c.954C>G	c.(952-954)acC>acG	p.T318T	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	318	BEN.									large_intestine(5)|lung(2)|skin(1)	8						AATCTCCTTGGGTTACTTGTA	0.468													6	234					0	0	0	0	C	49202065	G	C	49202065	2	2	1	1	0	0	0	0	0	0	0	1	1405	1219	43	4		4	BEND5	1	49202065	Silent	SNP	G	TCGA-BA-4074-01A-01D-1434-08	36778913	49202065	200048556	3	3											
FAF1	11124	broad.mit.edu	37	chr1	51050366	51050367	+	Frame_Shift_Ins	INS	-	-	T																															taatactcactcattggagaINSttttctcaaggcagatgacg																										TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:51050366_51050367insT	ENST00000396153.2	-	10	1408_1409	c.957_958insA	c.(955-960)aactccfs	p.NS319fs	FAF1_ENST00000371778.4_Frame_Shift_Ins_p.NS319fs|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Frame_Shift_Ins_p.NS77fs	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	319					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTCATTGGAGATTTTCTCAAGG	0.376													45	143	---	---	---	---					T	51050367	-	T	51050366	7	5	1	1	0	1	1	0	0	0	0	0	5410	333	12	0	1034	0	FAF1	1	51050366	Frame_Shift_Ins	INS	-	TCGA-BA-4074-01A-01D-1434-08	1848301	51050366	198200255	4	4											
DIO1	1733	broad.mit.edu	37	chr1	54370406	54370406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatgttcaaatttgaccaGttcaagaggcttattgaaga	13	15	8	5	0	2	4	2	2	0	2	2	4	2	4	1	1	0	3	1	1	5	7			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:54370406G>A	ENST00000361921.3	+	2	429	c.405G>A	c.(403-405)caG>caA	p.Q135Q	DIO1_ENST00000532493.1_Intron|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000322679.6_Silent_p.Q135Q|DIO1_ENST00000525202.1_Silent_p.Q71Q|DIO1_ENST00000524406.1_Silent_p.Q6Q|DIO1_ENST00000534069.1_3'UTR	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	135					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						AATTTGACCAGTTCAAGAGGC	0.393													102	209					0	0	0	0	A	54370406	G	A	54370406	2	1	1	1	0	0	0	0	0	0	0	1	4561	1020	36	4		4	DIO1	1	54370406	Silent	SNP	G	TCGA-BA-4074-01A-01D-1434-08	3320040	54370406	194880215	5	5											
PPAP2B	8613	broad.mit.edu	37	chr1	56990179	56990179	+	Frame_Shift_Del	DEL	C	C	-																															taggggttctgaatcgtcgaCcgcgacttcttcaggtaata																										TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:56990179delC	ENST00000371250.3	-	3	896	c.345delG	c.(343-345)cgfs	p.R115fs		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	115					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GAATCGTCGACCGCGACTTCT	0.483													30	100	---	---	---	---					-	56990179	C	-	56990179	7	5	1	1	0	1	0	1	0	0	0	0	12362	494	18	0	606	0	PPAP2B	1	56990179	Frame_Shift_Del	DEL	C	TCGA-BA-4074-01A-01D-1434-08	2619773	56990179	192260442	6	6											
LPHN2	23266	broad.mit.edu	37	chr1	82436053	82436053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctttttggcagcttttgCttggatgtgcctagaaggtg	5	18	12	6	0	1	1	0	0	1	1	1	2	1	2	1	3	3	3	1	3	2	7			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:82436053C>A	ENST00000370728.1	+	18	3422	c.2777C>A	c.(2776-2778)gCt>gAt	p.A926D	LPHN2_ENST00000370713.1_Missense_Mutation_p.A913D|LPHN2_ENST00000370723.1_Missense_Mutation_p.A913D|LPHN2_ENST00000370717.2_Missense_Mutation_p.A926D|LPHN2_ENST00000271029.4_Missense_Mutation_p.A926D|LPHN2_ENST00000394879.1_Missense_Mutation_p.A913D|LPHN2_ENST00000359929.3_Missense_Mutation_p.A913D|LPHN2_ENST00000370727.1_Missense_Mutation_p.A926D|LPHN2_ENST00000319517.6_Missense_Mutation_p.A913D|LPHN2_ENST00000335786.5_Missense_Mutation_p.A926D|LPHN2_ENST00000370730.1_Missense_Mutation_p.A926D|LPHN2_ENST00000370715.1_Missense_Mutation_p.A913D|LPHN2_ENST00000370721.1_Missense_Mutation_p.A851D|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.A926D			O95490	LPHN2_HUMAN	latrophilin 2	926					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCAGCTTTTGCTTGGATGTGC	0.358													67	230					6.52717e-41	7.34307e-41	1	0	A	82436053	C	A	82436053	3	1	1	1	0	0	0	0	1	0	0	0	8980	797	28	4	2788	4	LPHN2	1	82436053	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	25445874	82436053	166814568	7	7											
ARHGAP29	9411	broad.mit.edu	37	chr1	94645394	94645394	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttctatacacatatttggCcattttttgtcttcaagact	10	19	4	8	0	3	1	1	0	2	1	3	1	3	1	1	1	1	0	1	1	4	9			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:94645394C>G	ENST00000260526.6	-	20	2549	c.2367G>C	c.(2365-2367)tgG>tgC	p.W789C	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	789	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ACATATTTGGCCATTTTTTGT	0.308													30	123					0	0	0	0	G	94645394	C	G	94645394	3	3	1	1	0	0	0	0	1	0	0	0	880	740	26	4	1434	4	ARHGAP29	1	94645394	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	12209341	94645394	154605227	8	8											
ARHGAP29	9411	broad.mit.edu	37	chr1	94697030	94697030	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatatcattcaccaactcCttgatgtaatccggatcaaa	13	12	5	11	1	3	2	3	2	0	0	5	3	5	3	3	1	1	1	3	1	4	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:94697030C>T	ENST00000260526.6	-	2	320	c.138G>A	c.(136-138)aaG>aaA	p.K46K	ARHGAP29_ENST00000370217.3_Silent_p.K46K	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	46					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCACCAACTCCTTGATGTAAT	0.388													58	107					0	0	0	0	T	94697030	C	T	94697030	2	4	1	1	0	0	0	0	0	0	0	1	880	680	24	4		4	ARHGAP29	1	94697030	Silent	SNP	C	TCGA-BA-4074-01A-01D-1434-08	51636	94697030	154553591	9	9											
CELSR2	1952	broad.mit.edu	37	chr1	109795731	109795731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagccgggctacagtccaCgtccgcctccttgaccgcaa	7	7	11	16	4	0	2	0	2	0	0	3	2	3	2	6	1	2	2	6	1	2	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:109795731C>T	ENST00000271332.3	+	1	3091	c.3030C>T	c.(3028-3030)caC>caT	p.H1010H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1010	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTACAGTCCACGTCCGCCTCC	0.577													22	112					0	0	0	0	T	109795731	C	T	109795731	2	4	1	1	0	0	0	0	0	0	0	1	3251	535	19	1		1	CELSR2	1	109795731	Silent	SNP	C	TCGA-BA-4074-01A-01D-1434-08	15098701	109795731	139454890	10	10											
SPAG17	200162	broad.mit.edu	37	chr1	118640342	118640342	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatcagctgctttgaccAtgtactcaagtcgagcaaca	14	9	8	10	1	2	1	2	1	0	0	3	3	2	1	1	0	5	4	1	0	5	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:118640342A>T	ENST00000336338.5	-	7	1027	c.962T>A	c.(961-963)aTg>aAg	p.M321K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	321						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGCTTTGACCATGTACTCAAG	0.408													33	75					0	0	0	0	T	118640342	A	T	118640342	3	4	1	1	0	0	0	0	1	0	0	0	15069	217	8	5	5877	5	SPAG17	1	118640342	Missense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08	8844611	118640342	130610279	11	11											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145290477	145290477	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcttacaagaaaaggaatCatactgctaagaattcaaac	19	8	6	8	0	2	2	2	0	0	2	2	3	2	3	0	1	5	2	0	1	9	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:145290477C>G	ENST00000344859.3	+	5	1045	c.683C>G	c.(682-684)tCa>tGa	p.S228*	RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000369339.2_5'UTR|NOTCH2NL_ENST00000479995.2_3'UTR			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	0					cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GAAAAGGAATCATACTGCTAA	0.368													13	447					0	0	0	0	G	145290477	C	G	145290477	4	3	1	1	0	0	0	0	0	1	0	0	10619	841	29	2		2	NOTCH2NL	1	145290477	Nonsense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	26650135	145290477	103960144	12	12											
BCL9	607	broad.mit.edu	37	chr1	147086390	147086390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagccaaagtggtgtacGtgttttctactgagatggcc	8	12	11	10	1	1	1	0	1	1	1	2	2	2	1	3	2	3	2	3	2	3	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:147086390G>A	ENST00000234739.3	+	6	1275	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	179					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGTGGTGTACGTGTTTTCTAC	0.507			T	"IGH@, IGL@"	B-ALL								13	52					0	0	0	0	A	147086390	G	A	147086390	3	1	1	1	0	0	0	0	1	0	0	0	1385	1145	40	1	545	1	BCL9	1	147086390	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	1795913	147086390	102164231	13	13											
ECM1	1893	broad.mit.edu	37	chr1	150483454	150483454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggggctggggccaccGgctggatggcttcccccctg	4	6	16	15	1	0	0	0	0	0	0	1	1	1	1	6	7	0	3	6	7	1	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:150483454G>A	ENST00000369047.4	+	6	613	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	ECM1_ENST00000346569.6_Missense_Mutation_p.R163Q|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.R190Q	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	163	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGGGGCCACCGGCTGGATGGC	0.607													125	189					0	0	0	0	A	150483454	G	A	150483454	3	1	1	1	0	0	0	0	1	0	0	0	4933	1116	39	1	510	1	ECM1	1	150483454	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	3397064	150483454	98767167	14	14											
SETDB1	9869	broad.mit.edu	37	chr1	150935566	150935566	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgatgatatccagaccatAtcctctggctctgaagggga	11	10	11	9	0	2	4	0	3	2	1	4	5	4	5	3	3	0	1	3	3	3	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:150935566A>G	ENST00000271640.5	+	19	3598	c.3408A>G	c.(3406-3408)atA>atG	p.I1136M	SETDB1_ENST00000368969.4_Missense_Mutation_p.I1136M	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1136	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCAGACCATATCCTCTGGCT	0.498													26	82					0	0	0	0	G	150935566	A	G	150935566	3	3	1	1	0	0	0	0	1	0	0	0	14225	439	16	5	3478	5	SETDB1	1	150935566	Missense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08	452112	150935566	98315055	15	15											
DCST2	127579	broad.mit.edu	37	chr1	155004226	155004226	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgtgcaggagccactgcCacacattccggagagccctg	9	6	12	14	2	0	1	0	0	0	1	1	4	1	2	4	2	4	1	4	2	0	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:155004226C>T	ENST00000368424.3	-	4	621	c.563G>A	c.(562-564)tGg>tAg	p.W188*	DCST2_ENST00000295536.5_Nonsense_Mutation_p.W188*	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	188						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGCCACTGCCACACATTCCG	0.582													6	19					0	0	0	0	T	155004226	C	T	155004226	4	4	1	1	0	0	0	0	0	1	0	0	4335	595	21	4	1806	4	DCST2	1	155004226	Nonsense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	4068660	155004226	94246395	16	16											
OR10X1	128367	broad.mit.edu	37	chr1	158549182	158549182	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctctgtaagagagataaAgaagcctgcagtgcaagcag	15	7	12	7	0	1	3	0	0	1	3	2	4	1	3	1	0	4	4	1	0	5	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:158549182A>G	ENST00000368150.1	-	1	507	c.508T>C	c.(508-510)Ttt>Ctt	p.F170L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAGAGATAAAGAAGCCTGCA	0.468													26	64					0	0	0	0	G	158549182	A	G	158549182	3	3	1	1	0	0	0	0	1	0	0	0	10993	72	3	5	467	5	OR10X1	1	158549182	Missense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08	3544956	158549182	90701439	17	17											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179815800	179815800	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttccgtcctctctgccaCaggaaggaactctggcctgg	8	9	10	14	1	2	0	0	0	2	0	5	2	4	2	4	4	3	0	4	4	3	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:179815800C>T	ENST00000367612.3	-	6	1206	c.819G>A	c.(817-819)ctG>ctA	p.L273L		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	273						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CTCTCTGCCACAGGAAGGAAC	0.522													28	139					0	0	0	0	T	179815800	C	T	179815800	2	4	1	1	0	0	0	0	0	0	0	1	16468	465	17	4		4	TOR1AIP2	1	179815800	Silent	SNP	C	TCGA-BA-4074-01A-01D-1434-08	21266618	179815800	69434821	18	18											
XPR1	9213	broad.mit.edu	37	chr1	180805685	180805685	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttgccacaaatatacatAtggtgtgcgggccattgttc	11	13	9	8	1	0	0	0	0	0	0	1	0	0	0	2	2	3	1	2	2	5	6			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:180805685A>G	ENST00000367590.4	+	11	1532	c.1334A>G	c.(1333-1335)tAt>tGt	p.Y445C	XPR1_ENST00000367589.3_Intron	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	445	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AAATATACATATGGTGTGCGG	0.403													35	91					0	0	0	0	G	180805685	A	G	180805685	3	3	1	1	0	0	0	0	1	0	0	0	17547	449	16	5	1376	5	XPR1	1	180805685	Missense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08	989885	180805685	68444936	19	19											
ZBTB41	360023	broad.mit.edu	37	chr1	197145781	197145781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatatcttttatcatcatGatgtactcgtaagtgaagtc	11	16	6	8	1	4	2	3	2	1	0	6	2	4	2	0	0	1	2	0	0	5	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:197145781G>A	ENST00000367405.4	-	7	1860	c.1792C>T	c.(1792-1794)Cat>Tat	p.H598Y	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTATCATCATGATGTACTCGT	0.299													38	127					0	0	0	0	A	197145781	G	A	197145781	3	1	1	1	0	0	0	0	1	0	0	0	17638	1290	45	2	953	2	ZBTB41	1	197145781	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	16340096	197145781	52104840	20	20											
FMN2	56776	broad.mit.edu	37	chr1	240493929	240493929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatggcccaggggttatGcaggttctaggtttggttct	9	13	13	6	0	2	0	0	0	2	0	2	0	2	0	1	6	1	5	1	6	4	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:240493929G>A	ENST00000319653.9	+	11	4694	c.4464G>A	c.(4462-4464)atG>atA	p.M1488I	FMN2_ENST00000545751.1_Missense_Mutation_p.M84I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1488	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGGGGTTATGCAGGTTCTAG	0.388													27	106					0	0	0	0	A	240493929	G	A	240493929	3	1	1	1	0	0	0	0	1	0	0	0	5995	1319	46	4	4506	4	FMN2	1	240493929	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	43348148	240493929	8756692	21	21											
AKT3	10000	broad.mit.edu	37	chr1	243716166	243716166	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggttgtagaaaggtaacCtcccacacatcatttcatac	12	11	6	12	0	2	1	2	0	0	1	3	1	3	1	3	2	2	3	3	2	4	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:243716166C>A	ENST00000366539.1	-	11	1228	c.1028G>T	c.(1027-1029)aGg>aTg	p.R343M	AKT3_ENST00000366540.1_Missense_Mutation_p.R343M|AKT3_ENST00000263826.5_Missense_Mutation_p.R343M|AKT3_ENST00000336199.5_Missense_Mutation_p.R343M			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	343	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GAAAGGTAACCTCCCACACAT	0.383													49	275					1.11015e-26	1.22799e-26	1	0	A	243716166	C	A	243716166	3	1	1	1	0	0	0	0	1	0	0	0	481	681	24	4	475	4	AKT3	1	243716166	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	3222237	243716166	5534455	22	22											
NCOA1	8648	broad.mit.edu	37	chr2	24905933	24905933	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaattaatgaatacgagcgtCtacagcatactgcacgtggg	13	9	11	8	3	1	1	0	1	1	0	1	3	1	1	0	1	6	2	0	1	6	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:24905933C>G	ENST00000405141.1	+	9	1179	c.468C>G	c.(466-468)gtC>gtG	p.V156V	NCOA1_ENST00000407230.1_Silent_p.V5V|NCOA1_ENST00000406961.1_Silent_p.V156V|NCOA1_ENST00000395856.3_Silent_p.V156V|NCOA1_ENST00000348332.3_Silent_p.V156V|NCOA1_ENST00000288599.5_Silent_p.V156V|NCOA1_ENST00000538539.1_Silent_p.V156V			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	156	PAS.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACGAGCGTCTACAGCATAC	0.373			T	PAX3	alveolar rhadomyosarcoma								27	84					0	0	0	0	G	24905933	C	G	24905933	2	3	1	1	0	0	0	0	0	0	0	1	10298	900	32	2		2	NCOA1	2	24905933	Silent	SNP	C	TCGA-BA-4074-01A-01D-1434-08		24905933	218293440	23	23											
IFT172	26160	broad.mit.edu	37	chr2	27668659	27668659	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctcaaagggaatgtctgTatcctgaaaatcagagtggt	13	10	10	8	0	3	2	2	1	1	1	4	3	4	3	2	2	0	1	2	2	5	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:27668659T>C	ENST00000260570.3	-	45	4970	c.4867A>G	c.(4867-4869)Aca>Gca	p.T1623A	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1623					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGAATGTCTGTATCCTGAAAA	0.542													48	118					0	0	0	0	C	27668659	T	C	27668659	3	2	1	1	0	0	0	0	1	0	0	0	7610	1638	57	5	398	5	IFT172	2	27668659	Missense_Mutation	SNP	T	TCGA-BA-4074-01A-01D-1434-08	2762726	27668659	215530714	24	24											
PLEKHH2	130271	broad.mit.edu	37	chr2	43980883	43980883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctggcattagaaatggCagctcttttatctcaggtaa	12	13	9	7	0	3	2	1	0	3	2	4	2	3	2	0	3	1	4	0	3	4	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:43980883C>T	ENST00000282406.4	+	25	3889	c.3779C>T	c.(3778-3780)gCa>gTa	p.A1260V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1260	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTAGAAATGGCAGCTCTTTTA	0.299													58	86					0	0	0	0	T	43980883	C	T	43980883	3	4	1	1	0	0	0	0	1	0	0	0	12149	710	25	4	3873	4	PLEKHH2	2	43980883	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	16312224	43980883	199218490	25	25											
REL	5966	broad.mit.edu	37	chr2	61118932	61118932	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggggagcacagcacagAcaacaaccgaacataccctt	15	4	8	14	1	0	1	0	0	0	1	1	3	1	2	3	2	6	2	3	2	4	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:61118932A>T	ENST00000295025.7	+	2	445	c.125A>T	c.(124-126)gAc>gTc	p.D42V	REL_ENST00000394479.3_Missense_Mutation_p.D42V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	42	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CACAGCACAGACAACAACCGA	0.413			A		Hodgkin Lymphoma								50	139					0	0	0	0	T	61118932	A	T	61118932	3	4	1	1	0	0	0	0	1	0	0	0	13297	275	10	5	131	5	REL	2	61118932	Missense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08	17138049	61118932	182080441	26	26											
ANKRD36	375248	broad.mit.edu	37	chr2	97779626	97779626	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatctagagaaactgaagtaCcttctgctcacgtattatga	14	12	7	8	1	3	3	1	2	2	1	3	4	3	3	1	0	3	3	1	0	7	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:97779626C>G	ENST00000420699.2	+	1	394	c.150C>G	c.(148-150)taC>taG	p.Y50*	ANKRD36_ENST00000461153.2_Nonsense_Mutation_p.Y50*	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	50								p.Y50*(2)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AACTGAAGTACCTTCTGCTCA	0.517													29	56					0	0	0	0	G	97779626	C	G	97779626	4	3	1	1	0	0	0	0	0	1	0	0	664	518	18	4	152	4	ANKRD36	2	97779626	Nonsense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	36660694	97779626	145419747	27	27											
TBC1D8	11138	broad.mit.edu	37	chr2	101627939	101627939	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttcccgaaaaccaggggtCtcgatgttgacaacagagga	12	8	12	9	2	1	2	0	1	1	1	3	5	2	3	2	3	2	2	2	3	3	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:101627939C>G	ENST00000409318.1	-	18	3021	c.2891G>C	c.(2890-2892)aGa>aCa	p.R964T	TBC1D8_ENST00000376840.4_Missense_Mutation_p.R949T|RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409650.1_Intron	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	949					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AACCAGGGGTCTCGATGTTGA	0.483													42	79					0	0	0	0	G	101627939	C	G	101627939	3	3	1	1	0	0	0	0	1	0	0	0	15719	913	32	2	588	2	TBC1D8	2	101627939	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	3848313	101627939	141571434	28	28											
LRP1B	53353	broad.mit.edu	37	chr2	141083449	141083449	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataatccacagccaaaccTgcaaaatcaacacacacaag	21	4	3	13	0	1	0	1	0	0	0	2	0	2	0	3	0	4	1	3	0	7	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:141083449T>A	ENST00000389484.3	-	80	13195		c.e80-2			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGCCAAACCTGCAAAATCAA	0.348										TSP Lung(27;0.18)			19	35					0	0	0	0	A	141083449	T	A	141083449	5	1	1	1	0	0	0	0	0	0	1	0	9019	1594	55	5	1625	5	LRP1B	2	141083449	Splice_Site	SNP	T	TCGA-BA-4074-01A-01D-1434-08	39455510	141083449	102115924	29	29											
LRP1B	53353	broad.mit.edu	37	chr2	141777529	141777529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattcctctgggatgagaCatttcaccctctaaaagagt	13	11	7	10	0	3	2	1	1	2	2	4	4	4	3	2	1	0	0	2	1	3	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:141777529C>A	ENST00000389484.3	-	12	2903	c.1932G>T	c.(1930-1932)atG>atT	p.M644I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	644					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGGATGAGACATTTCACCCT	0.368										TSP Lung(27;0.18)			35	113					9.8876e-21	1.08764e-20	1	0	A	141777529	C	A	141777529	3	1	1	1	0	0	0	0	1	0	0	0	9019	478	17	4	12187	4	LRP1B	2	141777529	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	694080	141777529	101421844	30	30											
TNFAIP6	7130	broad.mit.edu	37	chr2	152235971	152235971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatggatcctgtatccaaatCcagtcaaggaaaaaatacaa	19	8	6	8	0	1	0	1	0	0	0	4	2	4	2	3	2	1	1	3	2	9	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:152235971C>T	ENST00000243347.3	+	6	833	c.758C>T	c.(757-759)tCc>tTc	p.S253F		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	253					cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		GTATCCAAATCCAGTCAAGGA	0.338													62	165					0	0	0	0	T	152235971	C	T	152235971	3	4	1	1	0	0	0	0	1	0	0	0	16369	855	30	2	780	2	TNFAIP6	2	152235971	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	10458442	152235971	90963402	31	31											
PPP1R1C	151242	broad.mit.edu	37	chr2	182852607	182852607	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagcatcacttgtgattctCaatgagcataaccccccagg	11	9	7	14	0	2	2	2	2	1	0	3	2	2	2	4	1	3	2	4	1	2	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:182852607C>G	ENST00000409137.3	+	2	366	c.123C>G	c.(121-123)ctC>ctG	p.L41L	PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000409702.1_Silent_p.L41L|PPP1R1C_ENST00000280295.3_Silent_p.L48L|PPP1R1C_ENST00000452904.1_Silent_p.L41L	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	41					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			TTGTGATTCTCAATGAGCATA	0.408													86	189					0	0	0	0	G	182852607	C	G	182852607	2	3	1	1	0	0	0	0	0	0	0	1	12445	813	29	2		2	PPP1R1C	2	182852607	Silent	SNP	C	TCGA-BA-4074-01A-01D-1434-08	30616636	182852607	60346766	32	32											
WDR12	55759	broad.mit.edu	37	chr2	203760839	203760839	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacacttccagcatgaccTctacagcagtgtagggcttt	9	12	8	12	0	2	1	0	1	2	0	3	1	3	1	2	1	4	4	2	1	3	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:203760839T>A	ENST00000261015.3	-	6	1307	c.558A>T	c.(556-558)agA>agT	p.R186S		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	186	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						CAGCATGACCTCTACAGCAGT	0.378													53	129					0	0	0	0	A	203760839	T	A	203760839	3	1	1	1	0	0	0	0	1	0	0	0	17370	1548	54	5	745	5	WDR12	2	203760839	Missense_Mutation	SNP	T	TCGA-BA-4074-01A-01D-1434-08	20908232	203760839	39438534	33	33											
ABCA12	26154	broad.mit.edu	37	chr2	215976352	215976352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttggaggaaatttggtcCgagtaatagccaaaattatg	14	11	11	5	1	0	0	0	0	0	0	1	3	1	2	2	3	1	2	2	3	6	5	rs113648834		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:215976352C>T	ENST00000272895.7	-	2	350	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	ABCA12_ENST00000412081.1_Missense_Mutation_p.R44Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	44					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAATTTGGTCCGAGTAATAGC	0.299													29	89					0	0	0	0	T	215976352	C	T	215976352	3	4	1	1	0	0	0	0	1	0	0	0	30	652	23	1	7895	1	ABCA12	2	215976352	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	12215513	215976352	27223021	34	34											
SPEG	10290	broad.mit.edu	37	chr2	220354645	220354645	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaaaccctacaccttcCtggaggagaaagccaggcaa	14	5	9	13	0	1	2	1	0	0	2	2	4	2	3	4	3	3	1	4	3	4	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:220354645C>T	ENST00000312358.7	+	36	9037	c.8905C>T	c.(8905-8907)Ctg>Ttg	p.L2969L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2969	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.L2969M(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTACACCTTCCTGGAGGAGAA	0.612													19	55					0	0	0	0	T	220354645	C	T	220354645	2	4	1	1	0	0	0	0	0	0	0	1	15126	680	24	4		4	SPEG	2	220354645	Silent	SNP	C	TCGA-BA-4074-01A-01D-1434-08	4378293	220354645	22844728	35	35											
UGT1A1	54658	broad.mit.edu	37	chr2	234669681	234669682	+	Frame_Shift_Ins	INS	-	-	GGACAGTCAC																															tgtccaggacctattgagctINSctgcatctgtctggctgttt																								rs57307513	byFrequency	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:234669681_234669682insGGACAGTCAC	ENST00000360418.3	+	1	748_749	c.748_749insGGACAGTCAC	c.(748-750)tgcfs	p.C250fs	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000305208.5_Frame_Shift_Ins_p.C250fs|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron			P22309	UD11_HUMAN		250					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCTATTGAGCTCTGCATCTGTC	0.47													24	276	---	---	---	---					GGACAGTCAC	234669682	-	GGACAGTCAC	234669681	7	5	1	1	0	1	1	0	0	0	0	0	17040	1551	54	0	750	0	UGT1A1	2	234669681	Frame_Shift_Ins	INS	-	TCGA-BA-4074-01A-01D-1434-08	14315036	234669681	8529692	36	36											
HJURP	55355	broad.mit.edu	37	chr2	234749404	234749404	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgcagggaactgatggtcCctcgtgccatccctcgtgat	6	12	11	12	2	0	2	0	2	0	0	4	3	2	3	3	2	3	1	3	2	1	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:234749404C>T	ENST00000411486.2	-	8	2087	c.2022G>A	c.(2020-2022)agG>agA	p.R674R	HJURP_ENST00000441687.1_Silent_p.R589R|HJURP_ENST00000432087.1_Silent_p.R620R	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	674					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACTGATGGTCCCTCGTGCCAT	0.577													48	107					0	0	0	0	T	234749404	C	T	234749404	2	4	1	1	0	0	0	0	0	0	0	1	7239	622	22	4		4	HJURP	2	234749404	Silent	SNP	C	TCGA-BA-4074-01A-01D-1434-08	79723	234749404	8449969	37	37											
PARP9	83666	broad.mit.edu	37	chr3	122269638	122269638	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaacactccttcattgcAtgttttaatatctgcaggaa	12	14	5	10	0	2	0	1	0	1	0	4	1	4	1	2	1	3	3	2	1	4	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:122269638A>C	ENST00000462315.1	-	6	1412	c.1119T>G	c.(1117-1119)caT>caG	p.H373Q	PARP9_ENST00000471785.1_Missense_Mutation_p.H373Q|PARP9_ENST00000477522.2_Missense_Mutation_p.H373Q|PARP9_ENST00000360356.2_Missense_Mutation_p.H408Q|PARP9_ENST00000492382.1_Intron	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	408	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CCTTCATTGCATGTTTTAATA	0.378													23	64					0	0	0	0	C	122269638	A	C	122269638	3	2	1	1	0	0	0	0	1	0	0	0	11537	214	8	5	1417	5	PARP9	3	122269638	Missense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08		122269638	75752792	38	38											
ROPN1	54763	broad.mit.edu	37	chr3	123695771	123695771	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggttacacaaagcgacTcgctcagaccgctctctcac	9	7	8	17	4	3	1	2	0	1	1	5	2	3	1	2	1	2	3	2	1	2	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:123695771T>C	ENST00000184183.4	-	4	514	c.174A>G	c.(172-174)cgA>cgG	p.R58R	ROPN1_ENST00000405845.3_Silent_p.R58R	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	58					signal transduction		cAMP-dependent protein kinase regulator activity			lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		ACAAAGCGACTCGCTCAGACC	0.517													44	106					0	0	0	0	C	123695771	T	C	123695771	2	2	1	1	0	0	0	0	0	0	0	1	13608	1538	54	5		5	ROPN1	3	123695771	Silent	SNP	T	TCGA-BA-4074-01A-01D-1434-08	1426133	123695771	74326659	39	39											
SNX4	8723	broad.mit.edu	37	chr3	125176125	125176125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccccagttaccagttcCtcacactgctgcttcttgga	7	12	6	16	0	3	0	2	0	1	0	4	1	4	1	4	1	3	4	4	1	1	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:125176125C>T	ENST00000251775.4	-	11	1053	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	SNX4_ENST00000536067.1_Silent_p.E198E	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	343					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TTACCAGTTCCTCACACTGCT	0.458													39	111					0	0	0	0	T	125176125	C	T	125176125	2	4	1	1	0	0	0	0	0	0	0	1	14992	680	24	4		4	SNX4	3	125176125	Silent	SNP	C	TCGA-BA-4074-01A-01D-1434-08	1480354	125176125	72846305	40	40											
COL6A6	131873	broad.mit.edu	37	chr3	130289727	130289727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctctggcagtattgactatGatgagtataatatcatgaag	13	13	10	5	0	2	4	1	4	1	0	2	4	2	4	0	1	0	4	0	1	6	6			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:130289727G>C	ENST00000358511.6	+	6	2498	c.2467G>C	c.(2467-2469)Gat>Cat	p.D823H	COL6A6_ENST00000453409.2_Missense_Mutation_p.D823H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	823	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TATTGACTATGATGAGTATAA	0.398													30	84					0	0	0	0	C	130289727	G	C	130289727	3	2	1	1	0	0	0	0	1	0	0	0	3733	1290	45	2	2489	2	COL6A6	3	130289727	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	5113602	130289727	67732703	41	41											
TM4SF1	4071	broad.mit.edu	37	chr3	149089577	149089577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccaagagccaagaggataGaaaacagagatacattccat	19	5	8	9	0	0	4	0	0	0	4	1	6	1	5	3	1	3	0	3	1	6	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:149089577G>A	ENST00000472441.1	-	2	347	c.224C>T	c.(223-225)tCt>tTt	p.S75F	TM4SF1_ENST00000305366.3_Missense_Mutation_p.S164F			P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	164						integral to plasma membrane		p.S164C(1)		endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CAAGAGGATAGAAAACAGAGA	0.433													46	90					0	0	0	0	A	149089577	G	A	149089577	3	1	1	1	0	0	0	0	1	0	0	0	16060	942	33	2	125	2	TM4SF1	3	149089577	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	18799850	149089577	48932853	42	42											
ACTL6A	86	broad.mit.edu	37	chr3	179291189	179291189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atagtttccaagctattttgGatcatacctacaaaatgcat	14	14	5	8	0	1	0	1	0	0	0	2	1	2	1	2	1	4	3	2	1	7	7			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:179291189G>A	ENST00000429709.2	+	4	523	c.310G>A	c.(310-312)Gat>Aat	p.D104N	ACTL6A_ENST00000450518.2_Missense_Mutation_p.D62N|ACTL6A_ENST00000392662.1_Missense_Mutation_p.D62N	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	104					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AGCTATTTTGGATCATACCTA	0.358													40	98					0	0	0	0	A	179291189	G	A	179291189	3	1	1	1	0	0	0	0	1	0	0	0	198	1174	41	2	324	2	ACTL6A	3	179291189	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	30201612	179291189	18731241	43	43											
ATP13A4	84239	broad.mit.edu	37	chr3	193220338	193220338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atactcctcatctgtcatgaGagggtggtcaggagtgagac	10	10	13	8	0	4	2	3	2	1	2	5	5	5	3	1	3	1	0	1	3	1	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:193220338G>C	ENST00000342695.4	-	3	647	c.325C>G	c.(325-327)Ctc>Gtc	p.L109V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.L109V|ATP13A4_ENST00000295548.3_Missense_Mutation_p.L109V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	109					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCTGTCATGAGAGGGTGGTCA	0.398													60	122					0	0	0	0	C	193220338	G	C	193220338	3	2	1	1	0	0	0	0	1	0	0	0	1130	942	33	2	3377	2	ATP13A4	3	193220338	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	13929149	193220338	4802092	44	44											
ADD1	118	broad.mit.edu	37	chr4	2896318	2896318	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttattttcaggttaagatcAatctacaaggagatatagta	15	15	7	4	0	3	2	2	0	1	2	3	3	3	2	0	2	1	2	0	2	8	9			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr4:2896318A>C	ENST00000355842.3	+	7	1464	c.601A>C	c.(601-603)Aat>Cat	p.N201H	ADD1_ENST00000503455.2_Missense_Mutation_p.N201H|ADD1_ENST00000264758.7_Missense_Mutation_p.N201H|ADD1_ENST00000446856.1_Missense_Mutation_p.N201H|ADD1_ENST00000398129.1_Missense_Mutation_p.N201H|ADD1_ENST00000398123.2_Missense_Mutation_p.N201H|ADD1_ENST00000513328.2_Missense_Mutation_p.N201H|ADD1_ENST00000398125.1_Missense_Mutation_p.N201H			P35611	ADDA_HUMAN	adducin 1 (alpha)	201					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGTTAAGATCAATCTACAAGG	0.368													16	30					0	0	0	0	C	2896318	A	C	2896318	3	2	1	1	0	0	0	0	1	0	0	0	304	130	5	5	619	5	ADD1	4	2896318	Missense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08		2896318	188257958	45	45											
NPFFR2	10886	broad.mit.edu	37	chr4	73012714	73012714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttccagtgtgtggtctacCcttttaaaccaaagctcact	9	13	8	11	0	2	0	1	0	1	0	3	0	3	0	3	2	3	2	3	2	4	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr4:73012714C>A	ENST00000308744.6	+	4	852	c.754C>A	c.(754-756)Cct>Act	p.P252T	NPFFR2_ENST00000358749.3_Missense_Mutation_p.P150T|NPFFR2_ENST00000395999.1_Missense_Mutation_p.P153T|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	252					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)			TGTGGTCTACCCTTTTAAACC	0.378													98	280					3.77759e-48	4.27407e-48	1	0	A	73012714	C	A	73012714	3	1	1	1	0	0	0	0	1	0	0	0	10648	623	22	4	774	4	NPFFR2	4	73012714	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	70116396	73012714	118141562	46	46											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99358174	99358174	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgagagaagtgctcctgaaAtcaaatataattccatggtc	15	11	8	7	0	1	3	1	2	0	1	4	4	3	3	2	1	1	1	2	1	5	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr4:99358174A>G	ENST00000408927.3	+	14	1764	c.1651A>G	c.(1651-1653)Atc>Gtc	p.I551V	RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.I502V|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.I551V|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.I460V|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.I552V|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.I503V	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	551							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TGCTCCTGAAATCAAATATAA	0.343			T	NUP98	T-ALL								37	59					0	0	0	0	G	99358174	A	G	99358174	3	3	1	1	0	0	0	0	1	0	0	0	13121	101	4	5	1708	5	RAP1GDS1	4	99358174	Missense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08	26345460	99358174	91796102	47	47											
FBXO8	26269	broad.mit.edu	37	chr4	175160279	175160279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgaaaaaattctctcagtGcatttggcaagaactgattt	14	12	8	7	1	2	2	1	1	1	1	3	4	2	2	0	1	2	2	0	1	5	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr4:175160279G>A	ENST00000393674.2	-	5	1500	c.638C>T	c.(637-639)gCa>gTa	p.A213V	FBXO8_ENST00000503293.1_Missense_Mutation_p.A172V	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	213	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TTCTCTCAGTGCATTTGGCAA	0.378													17	80					0	0	0	0	A	175160279	G	A	175160279	3	1	1	1	0	0	0	0	1	0	0	0	5806	1319	46	4	329	4	FBXO8	4	175160279	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	75802105	175160279	15993997	48	48											
WDR17	116966	broad.mit.edu	37	chr4	177067239	177067239	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaaagtatttagtgggcaTacagcaaaagtgtttcatgt	13	14	10	4	0	1	1	1	1	0	0	1	1	1	1	0	1	2	4	0	1	6	6			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr4:177067239T>C	ENST00000393643.2	+	12	1875	c.1623T>C	c.(1621-1623)caT>caC	p.H541H	WDR17_ENST00000508596.1_Silent_p.H541H|WDR17_ENST00000507824.2_Silent_p.H548H|WDR17_ENST00000280190.4_Silent_p.H565H	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	565										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTAGTGGGCATACAGCAAAAG	0.388													40	166					0	0	0	0	C	177067239	T	C	177067239	2	2	1	1	0	0	0	0	0	0	0	1	17373	1403	49	5		5	WDR17	4	177067239	Silent	SNP	T	TCGA-BA-4074-01A-01D-1434-08	1906960	177067239	14087037	49	49											
PLEKHG4B	153478	broad.mit.edu	37	chr5	171356	171356	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcgggagctaggtgacaaaAtggacctggcctcctacctg	10	7	13	11	1	0	1	0	1	0	0	1	3	1	3	4	4	3	1	4	4	4	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:171356A>G	ENST00000283426.6	+	14	2829	c.2779A>G	c.(2779-2781)Atg>Gtg	p.M927V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	927	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGGTGACAAAATGGACCTGGC	0.697													46	19					0	0	0	0	G	171356	A	G	171356	3	3	1	1	0	0	0	0	1	0	0	0	12144	101	4	5	2833	5	PLEKHG4B	5	171356	Missense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08		171356	180743904	50	50											
FASTKD3	79072	broad.mit.edu	37	chr5	7867445	7867445	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacaatatcctccggggtaAatgtttccaatttttcacct	10	14	5	12	1	1	0	1	0	0	0	4	0	4	0	5	2	0	2	5	2	5	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:7867445A>T	ENST00000264669.5	-	2	888	c.752T>A	c.(751-753)tTt>tAt	p.F251Y	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	251					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTCCGGGGTAAATGTTTCCAA	0.363													43	296					0	0	0	0	T	7867445	A	T	7867445	3	4	1	1	0	0	0	0	1	0	0	0	5732	14	1	5	1260	5	FASTKD3	5	7867445	Missense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08	7696089	7867445	173047815	51	51											
CDH10	1008	broad.mit.edu	37	chr5	24498538	24498538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcattttcacatacaaaaGtgtcatagaacacagcaaac	17	9	6	9	0	2	1	2	0	0	1	2	1	2	1	0	1	4	2	0	1	6	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:24498538G>T	ENST00000264463.4	-	9	1991	c.1484C>A	c.(1483-1485)aCt>aAt	p.T495N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	495	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACATACAAAAGTGTCATAGAA	0.393										HNSCC(23;0.051)			27	232					4.22769e-11	4.52478e-11	1	0	T	24498538	G	T	24498538	3	4	1	1	0	0	0	0	1	0	0	0	3125	1029	36	4	898	4	CDH10	5	24498538	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	16631093	24498538	156416722	52	52											
CDH10	1008	broad.mit.edu	37	chr5	24498580	24498580	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggcattgtcattaacaTccaaaattctcacaaaaaca	16	10	6	9	0	2	0	2	0	1	0	4	0	3	0	1	2	2	1	1	2	5	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:24498580T>A	ENST00000264463.4	-	9	1949	c.1442A>T	c.(1441-1443)gAt>gTt	p.D481V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	481	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTCATTAACATCCAAAATTCT	0.408										HNSCC(23;0.051)			33	238					0	0	0	0	A	24498580	T	A	24498580	3	1	1	1	0	0	0	0	1	0	0	0	3125	1435	50	5	940	5	CDH10	5	24498580	Missense_Mutation	SNP	T	TCGA-BA-4074-01A-01D-1434-08	42	24498580	156416680	53	53											
PDZD2	23037	broad.mit.edu	37	chr5	32058193	32058193	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggacaggatcgtcatggaAgtaacactcaacaaaggtga	17	6	11	7	1	2	1	2	1	0	0	3	4	2	4	0	4	2	1	0	4	5	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:32058193A>G	ENST00000438447.1	+	12	2572	c.2184A>G	c.(2182-2184)gaA>gaG	p.E728E	PDZD2_ENST00000282493.3_Silent_p.E728E			O15018	PDZD2_HUMAN	PDZ domain containing 2	728	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCGTCATGGAAGTAACACTCA	0.468													10	102					0	0	0	0	G	32058193	A	G	32058193	2	3	1	1	0	0	0	0	0	0	0	1	11772	69	3	5		5	PDZD2	5	32058193	Silent	SNP	A	TCGA-BA-4074-01A-01D-1434-08	7559613	32058193	148857067	54	54											
TRPC7	57113	broad.mit.edu	37	chr5	135587503	135587503	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcccgaaatctagcaggttCcacaagtgcagcacgtactc	12	8	8	13	2	1	0	0	0	1	0	4	1	3	0	2	1	4	5	2	1	4	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:135587503C>T	ENST00000513104.1	-	6	1695	c.1413G>A	c.(1411-1413)tgG>tgA	p.W471*	TRPC7_ENST00000426057.2_Nonsense_Mutation_p.W355*|TRPC7_ENST00000355180.3_Nonsense_Mutation_p.W410*	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	471					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTAGCAGGTTCCACAAGTGCA	0.567													32	47					0	0	0	0	T	135587503	C	T	135587503	4	4	1	1	0	0	0	0	0	1	0	0	16679	856	30	2	1203	2	TRPC7	5	135587503	Nonsense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	103529310	135587503	45327757	55	55											
HIVEP1	3096	broad.mit.edu	37	chr6	12015862	12015862	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccctgagtcaaagaagAtgcctcgaactaaacaaatt	17	7	8	9	1	1	3	1	1	0	2	2	4	1	3	2	1	3	0	2	1	7	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:12015862A>T	ENST00000379388.2	+	2	333	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	HIVEP1_ENST00000484210.1_Start_Codon_SNP_p.M1L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTCAAAGAAGATGCCTCGAAC	0.358													33	103					0	0	0	0	T	12015862	A	T	12015862	1	4	1	1	0	0	0	0	0	0	0	0	7236	333	12	5		5	HIVEP1	6	12015862	Translation_Start_Site	SNP	A	TCGA-BA-4074-01A-01D-1434-08		12015862	159099205	56	56											
SLC39A7	7922	broad.mit.edu	37	chr6	33171561	33171562	+	Frame_Shift_Ins	INS	-	-	T																															gctgctggggggagttatcaINStgatggtgctgattgcccac																										TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:33171561_33171562insT	ENST00000374677.3	+	7	1754_1755	c.1381_1382insT	c.(1381-1383)gatfs	p.D461fs	SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.D461fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	461				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).		endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGGAGTTATCATGATGGTGCTG	0.569													23	114	---	---	---	---					T	33171562	-	T	33171561	7	5	1	1	0	1	1	0	0	0	0	0	14711	217	8	0	1407	0	SLC39A7	6	33171561	Frame_Shift_Ins	INS	-	TCGA-BA-4074-01A-01D-1434-08	21155699	33171561	137943506	57	57											
GPR115	221393	broad.mit.edu	37	chr6	47682289	47682290	+	Frame_Shift_Ins	INS	-	-	T																															tggttgtgacggagatatcaINStacatgcgtcacgtgtgcat																										TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:47682289_47682290insT	ENST00000283303.2	+	6	1566_1567	c.1308_1309insT	c.(1306-1311)tcacatfs	p.H437fs	GPR115_ENST00000327753.3_Frame_Shift_Ins_p.H437fs|GPR115_ENST00000371220.1_Frame_Shift_Ins_p.H494fs	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	437					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CGGAGATATCATACATGCGTCA	0.485													89	241	---	---	---	---					T	47682290	-	T	47682289	7	5	1	1	0	1	1	0	0	0	0	0	6681	204	8	0	1326	0	GPR115	6	47682289	Frame_Shift_Ins	INS	-	TCGA-BA-4074-01A-01D-1434-08	14510728	47682289	123432778	58	58											
MCM3	4172	broad.mit.edu	37	chr6	52129395	52129395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgaggcctcctcagatgagGaagatgatgccctcagacac	12	6	11	12	1	2	5	2	2	0	3	3	7	3	6	3	2	1	0	3	2	1	0			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:52129395G>T	ENST00000596288.1	-	17	2580	c.2553C>A	c.(2551-2553)ttC>ttA	p.F851L	MCM3_ENST00000229854.7_Missense_Mutation_p.F806L|MCM3_ENST00000419835.2_Missense_Mutation_p.F760L	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	806					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CTCAGATGAGGAAGATGATGC	0.542													36	112					3.62531e-18	3.94402e-18	1	0	T	52129395	G	T	52129395	3	4	1	1	0	0	0	0	1	0	0	0	9456	1165	41	2	12	2	MCM3	6	52129395	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	4447106	52129395	118985672	59	59											
KLHL31	401265	broad.mit.edu	37	chr6	53516534	53516534	+	Frame_Shift_Del	DEL	G	G	-																															tccgtccactcgttgagctcGgggctgaagcactggatgca																										TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:53516534delG	ENST00000370905.3	-	3	1907	c.1767delC	c.(1765-1767)ccfs	p.P589fs	KLHL31_ENST00000407079.1_Frame_Shift_Del_p.P589fs	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CGTTGAGCTCGGGGCTGAAGC	0.652											OREG0017507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	97	---	---	---	---					-	53516534	G	-	53516534	7	5	1	1	0	1	0	1	0	0	0	0	8437	1103	39	0	141	0	KLHL31	6	53516534	Frame_Shift_Del	DEL	G	TCGA-BA-4074-01A-01D-1434-08	1387139	53516534	117598533	60	60											
BAI3	577	broad.mit.edu	37	chr6	69703805	69703805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcctgagaaatgtgaCagacacatttaaaagggcaa	17	7	11	6	0	0	4	0	2	0	3	1	6	1	4	1	2	0	1	1	2	4	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:69703805C>A	ENST00000370598.1	+	11	2701	c.1880C>A	c.(1879-1881)aCa>aAa	p.T627K		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	627					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAAATGTGACAGACACATTT	0.443													46	122					1.17475e-09	1.25054e-09	1	0	A	69703805	C	A	69703805	3	1	1	1	0	0	0	0	1	0	0	0	1304	478	17	4	1914	4	BAI3	6	69703805	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	16187271	69703805	101411262	61	61											
ZNF292	23036	broad.mit.edu	37	chr6	87969654	87969654	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccagtttcccaatcccttGagtttccaacaagatacagt	12	11	6	12	0	0	2	0	1	0	1	3	2	3	2	4	0	3	2	4	0	4	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:87969654G>C	ENST00000369577.3	+	8	6350	c.6307G>C	c.(6307-6309)Gag>Cag	p.E2103Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.E2098Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCAATCCCTTGAGTTTCCAAC	0.413													29	89					0	0	0	0	C	87969654	G	C	87969654	3	2	1	1	0	0	0	0	1	0	0	0	17921	1291	45	2	6337	2	ZNF292	6	87969654	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	18265849	87969654	83145413	62	62											
MDN1	23195	broad.mit.edu	37	chr6	90385185	90385185	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caactcatcagctgatacctGaggatgatccactgctcact	11	10	7	13	0	3	3	3	3	0	0	4	4	4	4	2	1	4	2	2	1	2	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:90385185G>A	ENST00000369393.3	-	78	12874	c.12759C>T	c.(12757-12759)ctC>ctT	p.L4253L	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Silent_p.L4253L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4253					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCTGATACCTGAGGATGATCC	0.527													29	69					0	0	0	0	A	90385185	G	A	90385185	2	1	1	1	0	0	0	0	0	0	0	1	9484	1277	45	2		2	MDN1	6	90385185	Silent	SNP	G	TCGA-BA-4074-01A-01D-1434-08	2415531	90385185	80729882	63	63											
ASCC3	10973	broad.mit.edu	37	chr6	101037629	101037629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggccataagttagaggttCaatgctgcgattatcctatt	10	14	9	8	2	1	1	1	0	0	1	3	2	2	1	2	2	2	3	2	2	5	6			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:101037629C>T	ENST00000369162.2	-	36	5775	c.5431G>A	c.(5431-5433)Gaa>Aaa	p.E1811K		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTTAGAGGTTCAATGCTGCGA	0.343													61	160					0	0	0	0	T	101037629	C	T	101037629	3	4	1	1	0	0	0	0	1	0	0	0	1037	835	29	2	1205	2	ASCC3	6	101037629	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	10652444	101037629	70077438	64	64											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111913273	111913273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgattcatcaacctccacaGgaatgcttcggttcattcta	10	13	6	12	1	4	1	3	1	1	0	6	2	5	2	2	2	2	2	2	2	3	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:111913273G>A	ENST00000368761.5	-	2	495	c.17C>T	c.(16-18)cCt>cTt	p.P6L	TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.P15L|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P6L	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	15					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		AACCTCCACAGGAATGCTTCG	0.423													48	125					0	0	0	0	A	111913273	G	A	111913273	3	1	1	1	0	0	0	0	1	0	0	0	16536	1000	35	4	1712	4	TRAF3IP2	6	111913273	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	10875644	111913273	59201794	65	65											
FAM26E	254228	broad.mit.edu	37	chr6	116833202	116833202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggctccagtgatgtggCtttctgtggctctgctcaat	4	15	13	9	0	3	1	1	1	2	0	4	1	4	1	1	4	1	4	1	4	1	1	rs11539385		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:116833202C>A	ENST00000368599.3	+	1	394	c.343C>A	c.(343-345)Ctt>Att	p.L115I	TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	115						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AGTGATGTGGCTTTCTGTGGC	0.512													4	92					0.150653	0.152971	1	0	A	116833202	C	A	116833202	3	1	1	1	0	0	0	0	1	0	0	0	5597	797	28	4	345	4	FAM26E	6	116833202	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	4919929	116833202	54281865	66	66											
PAPOLB	56903	broad.mit.edu	37	chr7	4900071	4900071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagactggatatcataggtGagatcaatgctgagaatttc	15	11	10	5	0	2	3	2	2	0	3	3	6	2	4	0	2	1	1	0	2	5	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr7:4900071G>A	ENST00000404991.1	-	1	1554	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	456					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TATCATAGGTGAGATCAATGC	0.363													92	122					0	0	0	0	A	4900071	G	A	4900071	2	1	1	1	0	0	0	0	0	0	0	1	11501	1277	45	2		2	PAPOLB	7	4900071	Silent	SNP	G	TCGA-BA-4074-01A-01D-1434-08		4900071	154238592	67	67											
POU6F2	11281	broad.mit.edu	37	chr7	39247047	39247047	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccggcgtgatgccgggaggCcccccagccctcaaccagcc	6	3	13	19	3	1	1	1	1	0	0	1	2	1	2	8	3	4	0	8	3	1	0			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr7:39247047C>A	ENST00000518318.2	+	4	381	c.339C>A	c.(337-339)ggC>ggA	p.G113G	POU6F2_ENST00000403058.1_Silent_p.G113G|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Silent_p.G105G			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	113					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGCCGGGAGGCCCCCCAGCCC	0.577													79	200					1.31969e-37	1.47626e-37	1	0	A	39247047	C	A	39247047	2	1	1	1	0	0	0	0	0	0	0	1	12356	726	26	4		4	POU6F2	7	39247047	Silent	SNP	C	TCGA-BA-4074-01A-01D-1434-08	34346976	39247047	119891616	68	68											
STX1A	6804	broad.mit.edu	37	chr7	73115164	73115164	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcgatcctgtcaatcaTctctccctgcggggccgggg	5	10	12	14	3	3	0	2	0	1	0	7	1	5	0	3	4	2	1	3	4	2	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr7:73115164T>A	ENST00000222812.3	-	9	711	c.685A>T	c.(685-687)Atg>Ttg	p.M229L	STX1A_ENST00000484736.1_5'UTR|WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000395155.3_Missense_Mutation_p.D259V|STX1A_ENST00000395156.3_Intron|STX1A_ENST00000395154.3_3'UTR	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	229	t-SNARE coiled-coil homology.				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGTCAATCATCTCTCCCTGC	0.627													13	23					0	0	0	0	A	73115164	T	A	73115164	3	1	1	1	0	0	0	0	1	0	0	0	15433	1435	50	5	189	5	STX1A	7	73115164	Missense_Mutation	SNP	T	TCGA-BA-4074-01A-01D-1434-08	33868117	73115164	86023499	69	69											
MFHAS1	9258	broad.mit.edu	37	chr8	8750418	8750418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacgagctggggggaggcggGggactcgagcgcgtcggccc	5	3	21	12	6	0	0	0	0	0	0	2	4	0	2	1	7	2	1	1	7	0	0			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:8750418G>A	ENST00000276282.6	-	1	737	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	51										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GGGGAGGCGGGGGACTCGAGC	0.746													3	6					0	0	0	0	A	8750418	G	A	8750418	3	1	1	1	0	0	0	0	1	0	0	0	9590	1232	43	4	3019	4	MFHAS1	8	8750418	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08		8750418	137613604	70	70											
BMP1	649	broad.mit.edu	37	chr8	22053789	22053789	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgctggggacagcactcCgaggctaatggctccagctc	9	7	13	12	1	0	1	0	0	0	1	3	3	2	2	2	4	3	5	2	4	1	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:22053789C>T	ENST00000397814.3	+	14	1980	c.1861C>T	c.(1861-1863)Cga>Tga	p.R621*	BMP1_ENST00000306349.8_Intron|BMP1_ENST00000306385.5_Intron|BMP1_ENST00000354870.5_Intron|BMP1_ENST00000397816.3_Intron			P13497	BMP1_HUMAN	bone morphogenetic protein 1	0	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GACAGCACTCCGAGGCTAATG	0.612													31	29					0	0	0	0	T	22053789	C	T	22053789	4	4	1	1	0	0	0	0	0	1	0	0	1461	667	23	1		1	BMP1	8	22053789	Nonsense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	13303371	22053789	124310233	71	71											
CSPP1	79848	broad.mit.edu	37	chr8	68102908	68102908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacggtgagacatatcctGccattgaagatgacgtcctc	10	11	9	11	2	0	4	0	3	0	2	3	5	2	4	3	1	2	0	3	1	3	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:68102908G>A	ENST00000262210.5	+	27	3260	c.3229G>A	c.(3229-3231)Gcc>Acc	p.A1077T	ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.A732T	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1112						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GACATATCCTGCCATTGAAGA	0.483													38	81					0	0	0	0	A	68102908	G	A	68102908	3	1	1	1	0	0	0	0	1	0	0	0	3994	1319	46	4	3448	4	CSPP1	8	68102908	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	46049119	68102908	78261114	72	72											
ZFHX4	79776	broad.mit.edu	37	chr8	77617964	77617964	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttagggccagtggcagTgttgctagtaactatggcat	8	12	14	7	0	0	0	0	0	0	0	0	0	0	0	1	3	2	7	1	3	4	5	rs74886598		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:77617964T>C	ENST00000521891.2	+	2	2089	c.1641T>C	c.(1639-1641)agT>agC	p.S547S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.S547S|ZFHX4_ENST00000455469.2_Silent_p.S547S|ZFHX4_ENST00000518282.1_Silent_p.S547S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	547						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAGTGGCAGTGTTGCTAGTA	0.488										HNSCC(33;0.089)			6	31					0	0	0	0	C	77617964	T	C	77617964	2	2	1	1	0	0	0	0	0	0	0	1	17730	1693	59	5		5	ZFHX4	8	77617964	Silent	SNP	T	TCGA-BA-4074-01A-01D-1434-08	9515056	77617964	68746058	73	73											
RUNX1T1	862	broad.mit.edu	37	chr8	92972691	92972691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgagccacagtatcgggCtgtgttacagccactgcagg	11	8	12	10	1	0	1	0	1	0	0	1	1	0	1	2	2	4	4	2	2	3	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:92972691C>A	ENST00000523629.1	-	12	2048	c.1594G>T	c.(1594-1596)Gcc>Tcc	p.A532S	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A505S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A495S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A543S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A532S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A505S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A495S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A495S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	532					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)			CAGTATCGGGCTGTGTTACAG	0.522													16	49					0.000422831	0.000440635	1	0	A	92972691	C	A	92972691	3	1	1	1	0	0	0	0	1	0	0	0	13832	797	28	4	224	4	RUNX1T1	8	92972691	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	15354727	92972691	53391331	74	74											
SYBU	55638	broad.mit.edu	37	chr8	110631186	110631186	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagccttcatcacttccaggGcaaaagccaatggggctgtt	11	9	10	11	0	2	0	2	0	0	0	3	0	3	0	3	3	2	3	3	3	4	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:110631186G>A	ENST00000399066.3	-	2	1030	c.303C>T	c.(301-303)tgC>tgT	p.C101C	SYBU_ENST00000533171.1_Silent_p.C104C|SYBU_ENST00000533065.1_5'UTR|SYBU_ENST00000532779.1_Silent_p.C36C|SYBU_ENST00000440310.1_Silent_p.C104C|SYBU_ENST00000419099.1_Silent_p.C103C|SYBU_ENST00000446070.2_Silent_p.C103C|SYBU_ENST00000433638.1_Silent_p.C104C|SYBU_ENST00000276646.9_Silent_p.C104C|SYBU_ENST00000422135.1_Silent_p.C104C|SYBU_ENST00000528331.1_5'UTR|SYBU_ENST00000424158.2_Silent_p.C109C|SYBU_ENST00000408889.3_5'UTR|SYBU_ENST00000408908.2_Silent_p.C104C|SYBU_ENST00000528647.1_Silent_p.C103C|SYBU_ENST00000533895.1_Silent_p.C103C	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	104	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CACTTCCAGGGCAAAAGCCAA	0.478													5	202					0	0	0	0	A	110631186	G	A	110631186	2	1	1	1	0	0	0	0	0	0	0	1	15517	1195	42	4		4	SYBU	8	110631186	Silent	SNP	G	TCGA-BA-4074-01A-01D-1434-08	17658495	110631186	35732836	75	75											
CSMD3	114788	broad.mit.edu	37	chr8	113697694	113697694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcagcctgaaattccaatCgcagtatgtgactattacta	12	12	8	9	1	1	2	1	2	0	0	3	2	2	2	2	1	2	2	2	1	6	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:113697694C>T	ENST00000297405.5	-	15	2667	c.2423G>A	c.(2422-2424)cGa>cAa	p.R808Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.R768Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R704Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R808Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	808	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATTCCAATCGCAGTATGTG	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	97					0	0	0	0	T	113697694	C	T	113697694	3	4	1	1	0	0	0	0	1	0	0	0	3978	884	31	1	8928	1	CSMD3	8	113697694	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	3066508	113697694	32666328	76	76											
TRPM6	140803	broad.mit.edu	37	chr9	77397710	77397710	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggatggccttgcgtgcCactccaaagctcagcaggac	11	6	12	12	1	1	0	1	0	0	0	2	3	2	2	3	3	4	2	3	3	2	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:77397710C>T	ENST00000451710.3	-	22	3216	c.2979G>A	c.(2977-2979)gtG>gtA	p.V993V	TRPM6_ENST00000360774.1_Silent_p.V993V|TRPM6_ENST00000449912.2_Silent_p.V988V|TRPM6_ENST00000376864.4_Silent_p.V993V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.V988V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	993					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						CCTTGCGTGCCACTCCAAAGC	0.438													33	33					0	0	0	0	T	77397710	C	T	77397710	2	4	1	1	0	0	0	0	0	0	0	1	16685	581	21	4		4	TRPM6	9	77397710	Silent	SNP	C	TCGA-BA-4074-01A-01D-1434-08		77397710	63815721	77	77											
OR13C9	286362	broad.mit.edu	37	chr9	107380278	107380278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggtggtgtagcagatgtCcaagaaggagaggttcccca	10	8	16	7	0	0	3	0	0	0	3	2	4	2	3	3	5	1	3	3	5	3	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:107380278C>A	ENST00000259362.1	-	1	207	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TAGCAGATGTCCAAGAAGGAG	0.478													48	124					4.44712e-29	4.9468e-29	1	0	A	107380278	C	A	107380278	3	1	1	1	0	0	0	0	1	0	0	0	11010	855	30	2	751	2	OR13C9	9	107380278	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	29982568	107380278	33833153	78	78											
TNC	3371	broad.mit.edu	37	chr9	117848842	117848842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcacactcacaccgccCgtctacacagcggccacgat	11	6	6	18	4	4	0	3	0	1	0	4	1	4	0	3	1	2	0	3	1	1	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:117848842C>T	ENST00000350763.4	-	3	1579	c.1168G>A	c.(1168-1170)Ggg>Agg	p.G390R	TNC_ENST00000542877.1_Missense_Mutation_p.G390R|TNC_ENST00000423613.2_Missense_Mutation_p.G390R|TNC_ENST00000341037.4_Missense_Mutation_p.G390R|TNC_ENST00000346706.3_Missense_Mutation_p.G390R|TNC_ENST00000340094.3_Missense_Mutation_p.G390R|TNC_ENST00000535648.1_Missense_Mutation_p.G390R|TNC_ENST00000345230.3_Missense_Mutation_p.G390R|TNC_ENST00000537320.1_Missense_Mutation_p.G390R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	390	EGF-like 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCACACCGCCCGTCTACACAG	0.587													33	104					0	0	0	0	T	117848842	C	T	117848842	3	4	1	1	0	0	0	0	1	0	0	0	16364	652	23	1	5541	1	TNC	9	117848842	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	10468564	117848842	23364589	79	79											
GAPVD1	26130	broad.mit.edu	37	chr9	128112629	128112629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcggactctgttgccttcCcagtgctgacccattcaaca	7	11	8	15	1	2	1	1	1	1	0	3	2	3	2	3	1	4	2	3	1	1	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:128112629C>T	ENST00000470056.1	+	19	3434	c.3274C>T	c.(3274-3276)Cca>Tca	p.P1092S	GAPVD1_ENST00000312123.9_Missense_Mutation_p.P1098S|GAPVD1_ENST00000394105.2_Missense_Mutation_p.P1146S|GAPVD1_ENST00000297933.6_Missense_Mutation_p.P1119S|GAPVD1_ENST00000394104.2_Missense_Mutation_p.P1137S|GAPVD1_ENST00000495955.1_Missense_Mutation_p.P1137S|GAPVD1_ENST00000265956.4_Missense_Mutation_p.P1111S|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P1071S			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1137					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGTTGCCTTCCCAGTGCTGAC	0.403													99	87					0	0	0	0	T	128112629	C	T	128112629	3	4	1	1	0	0	0	0	1	0	0	0	6288	623	22	4	3514	4	GAPVD1	9	128112629	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	10263787	128112629	13100802	80	80											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130652958	130652958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggtcgtcaaattgcCgcatgcggccgggagagacg	10	5	17	9	5	1	2	1	0	0	2	2	5	1	4	2	4	2	1	2	4	2	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:130652958C>T	ENST00000373146.1	-	5	841	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R221Q|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R187Q|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R187Q|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R221Q|ST6GALNAC6_ENST00000542456.1_Intron			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	221					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTCAAATTGCCGCATGCGGCC	0.642													69	54					0	0	0	0	T	130652958	C	T	130652958	3	4	1	1	0	0	0	0	1	0	0	0	15318	652	23	1	351	1	ST6GALNAC6	9	130652958	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	2540329	130652958	10560473	81	81											
SEC16A	9919	broad.mit.edu	37	chr9	139339534	139339534	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctggctcacttcacgtgaTaatgaactcattgaactaca	12	12	7	10	1	3	3	3	3	0	0	3	3	3	3	0	1	4	2	0	1	4	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:139339534T>C	ENST00000313050.7	-	28	6970	c.6897A>G	c.(6895-6897)ttA>ttG	p.L2299L	SEC16A_ENST00000313084.5_Silent_p.L327L|SEC16A_ENST00000290037.6_Intron|SEC16A_ENST00000371706.3_Intron|SEC16A_ENST00000431893.2_Silent_p.L2096L	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2121					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTTCACGTGATAATGAACTCA	0.498													7	9					0	0	0	0	C	139339534	T	C	139339534	2	2	1	1	0	0	0	0	0	0	0	1	14073	1403	49	5		5	SEC16A	9	139339534	Silent	SNP	T	TCGA-BA-4074-01A-01D-1434-08	8686576	139339534	1873897	82	82											
MAN1B1	11253	broad.mit.edu	37	chr9	139990687	139990687	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgaccaatttctctacAgaagacacaaagacacatcc	15	9	6	11	0	1	4	0	1	1	3	3	4	2	4	2	0	1	0	2	0	4	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:139990687A>C	ENST00000371589.4	+	4	538		c.e4-1		MAN1B1_ENST00000474902.1_Splice_Site	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1						oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ATTTCTCTACAGAAGACACAA	0.567													8	22					0	0	0	0	C	139990687	A	C	139990687	5	2	1	1	0	0	0	0	0	0	1	0	9281	202	7	5	478	5	MAN1B1	9	139990687	Splice_Site	SNP	A	TCGA-BA-4074-01A-01D-1434-08	651153	139990687	1222744	83	83											
MRPL41	64975	broad.mit.edu	37	chr9	140446898	140446898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtacggcttcgagcccaCacaggagggaaagctcttcc	12	6	11	12	2	1	0	0	0	1	0	3	3	2	2	2	3	3	3	2	3	3	3	rs3210506		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:140446898C>A	ENST00000371443.5	+	2	1153	c.365C>A	c.(364-366)aCa>aAa	p.T122K		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	122					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		TTCGAGCCCACACAGGAGGGA	0.592													4	76					0.00024832	0.000260145	1	0	A	140446898	C	A	140446898	3	1	1	1	0	0	0	0	1	0	0	0	9875	478	17	4	367	4	MRPL41	9	140446898	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	456211	140446898	766533	84	84											
KIF5B	3799	broad.mit.edu	37	chr10	32326241	32326241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagcttttgttccgtttGtgtgttctcttgtttgacat	4	21	8	8	1	2	1	1	1	1	0	4	1	3	1	1	0	1	5	1	0	0	7			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr10:32326241G>C	ENST00000302418.4	-	8	1109	c.652C>G	c.(652-654)Caa>Gaa	p.Q218E		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	218	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGTTCCGTTTGTGTGTTCTCT	0.313			T	"RET, ALK"	NSCLC								10	120					0	0	0	0	C	32326241	G	C	32326241	3	2	1	1	0	0	0	0	1	0	0	0	8357	1386	48	4	2311	4	KIF5B	10	32326241	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08		32326241	103208506	85	85											
PTEN	5728	broad.mit.edu	37	chr10	89711893	89711893	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggagtaactattcccagtCagaggcgctatgtgtattat	11	12	11	7	1	1	1	1	0	0	1	2	2	2	2	1	2	1	3	1	2	5	6			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr10:89711893C>T	ENST00000371953.3	+	6	1868	c.511C>T	c.(511-513)Cag>Tag	p.Q171*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	171	Phosphatase tensin-type.				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 cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|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|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain 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.Q171*(9)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Q171E(2)|p.Q171K(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170_Q171del(1)|p.S170fs*8(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)		TATTCCCAGTCAGAGGCGCTA	0.353		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)			70	105					0	0	0	0	T	89711893	C	T	89711893	4	4	1	1	0	0	0	0	0	1	0	0	12817	827	29	2	533	2	PTEN	10	89711893	Nonsense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	57385652	89711893	45822854	86	86											
TIAL1	7073	broad.mit.edu	37	chr10	121336662	121336662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaccacatgtccttcaatcGtagtaccgttcaccgaaaca	13	10	5	13	3	2	0	2	0	0	0	4	1	3	0	4	0	3	3	4	0	5	5	rs148932828	byFrequency	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr10:121336662G>A	ENST00000369092.4	-	11	1730	c.422C>T	c.(421-423)aCg>aTg	p.T141M	TIAL1_ENST00000369093.2_Missense_Mutation_p.T281M|TIAL1_ENST00000463089.2_5'UTR|TIAL1_ENST00000436547.2_Missense_Mutation_p.T264M			Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	264	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TCCTTCAATCGTAGTACCGTT	0.348													36	34					0	0	0	0	A	121336662	G	A	121336662	3	1	1	1	0	0	0	0	1	0	0	0	15983	1145	40	1	348	1	TIAL1	10	121336662	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	31624769	121336662	14198085	87	87											
LRRC27	80313	broad.mit.edu	37	chr10	134188714	134188714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattttttaacacaaaatatGgagaatcaggaaatgttcgc	16	12	7	6	1	1	1	1	0	0	1	2	3	1	2	0	2	1	1	0	2	6	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr10:134188714G>A	ENST00000368610.3	+	10	1375	c.1375G>A	c.(1375-1377)Gga>Aga	p.G459R	LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.G521R|LRRC27_ENST00000368612.1_Missense_Mutation_p.G459R|LRRC27_ENST00000368614.3_Missense_Mutation_p.G521R			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	521										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CACAAAATATGGAGAATCAGG	0.522													20	25					0	0	0	0	A	134188714	G	A	134188714	3	1	1	1	0	0	0	0	1	0	0	0	9045	1349	47	4	1781	4	LRRC27	10	134188714	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	12852052	134188714	1346033	88	88											
PKP3	11187	broad.mit.edu	37	chr11	404005	404005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtgggtgagaagtcgcccCcagccgaggtgctggtcaac	7	6	16	12	3	1	1	1	1	0	1	2	3	1	1	3	3	3	1	3	3	2	0			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:404005C>T	ENST00000331563.2	+	11	2216	c.2140C>T	c.(2140-2142)Cca>Tca	p.P714S		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	714					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAAGTCGCCCCCAGCCGAGGT	0.627													24	70					0	0	0	0	T	404005	C	T	404005	3	4	1	1	0	0	0	0	1	0	0	0	12058	623	22	4	2182	4	PKP3	11	404005	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08		404005	134602511	89	89											
OR51B2	79345	broad.mit.edu	37	chr11	5344959	5344959	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtaaagtctattgaaagttAtgtcagcacaagccagtctc	13	11	9	8	0	3	1	1	1	2	0	4	1	3	1	1	1	2	3	1	1	6	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:5344959A>C	ENST00000328813.2	-	1	623	c.569T>G	c.(568-570)aTa>aGa	p.I190R	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGAAAGTTATGTCAGCACA	0.353													25	48					0	0	0	0	C	5344959	A	C	5344959	3	2	1	1	0	0	0	0	1	0	0	0	11160	449	16	5	373	5	OR51B2	11	5344959	Missense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08	4940954	5344959	129661557	90	90											
OR56A3	390083	broad.mit.edu	37	chr11	5969347	5969347	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcctcttcttcagcacCatccttctggtttttgtcct	4	18	4	15	0	5	0	2	0	3	0	8	0	8	0	4	1	1	2	4	1	0	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:5969347C>T	ENST00000329564.6	+	1	778	c.771C>T	c.(769-771)acC>acT	p.T257T		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T257T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCAGCACCATCCTTCTGG	0.527													65	227					0	0	0	0	T	5969347	C	T	5969347	2	4	1	1	0	0	0	0	0	0	0	1	11205	581	21	4		4	OR56A3	11	5969347	Silent	SNP	C	TCGA-BA-4074-01A-01D-1434-08	624388	5969347	129037169	91	91											
OR5P2	120065	broad.mit.edu	37	chr11	7817968	7817969	+	Frame_Shift_Ins	INS	-	-	A																															gtaagggagcgaaatcacagINSaaaaaatgattgacttgatt																										TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:7817968_7817969insA	ENST00000329434.2	-	1	551_552	c.521_522insT	c.(520-522)ttgfs	p.L174fs	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGAAATCACAGAAAAAATGATT	0.386													31	73	---	---	---	---					A	7817969	-	A	7817968	7	5	1	1	0	1	1	0	0	0	0	0	11249	933	33	0	450	0	OR5P2	11	7817968	Frame_Shift_Ins	INS	-	TCGA-BA-4074-01A-01D-1434-08	1848621	7817968	127188548	92	92											
PAX6	5080	broad.mit.edu	37	chr11	31816281	31816281	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcatctgaatcttctccGttggaactgatggagttggt	7	14	11	9	1	4	2	1	2	3	0	5	4	4	4	2	3	1	2	2	3	2	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:31816281G>A	ENST00000419022.1	-	9	1089	c.621C>T	c.(619-621)aaC>aaT	p.N207N	PAX6_ENST00000241001.8_Silent_p.N193N|PAX6_ENST00000379111.2_Silent_p.N193N|PAX6_ENST00000379132.3_Silent_p.N193N|PAX6_ENST00000379123.5_Silent_p.N193N|PAX6_ENST00000379115.4_Silent_p.N207N|PAX6_ENST00000379107.2_Silent_p.N207N|PAX6_ENST00000379129.2_Silent_p.N207N	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	193	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					AATCTTCTCCGTTGGAACTGA	0.453									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				34	101					0	0	0	0	A	31816281	G	A	31816281	2	1	1	1	0	0	0	0	0	0	0	1	11554	1136	40	1		1	PAX6	11	31816281	Silent	SNP	G	TCGA-BA-4074-01A-01D-1434-08	23998313	31816281	103190235	93	93											
OR4C46	119749	broad.mit.edu	37	chr11	51515476	51515476	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccctggcctatctctcCtttattgatgcctgctattc	4	18	5	14	0	1	1	0	1	1	0	5	1	3	1	4	1	2	1	4	1	3	7			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:51515476C>T	ENST00000328188.1	+	1	195	c.195C>T	c.(193-195)tcC>tcT	p.S65S		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCTATCTCTCCTTTATTGATG	0.478													87	287					0	0	0	0	T	51515476	C	T	51515476	2	4	1	1	0	0	0	0	0	0	0	1	11122	668	24	4		4	OR4C46	11	51515476	Silent	SNP	C	TCGA-BA-4074-01A-01D-1434-08	19699195	51515476	83491040	94	94											
RTN4RL2	349667	broad.mit.edu	37	chr11	57243919	57243919	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaacccctgggcgtgcgaCtgccgcgcgcggccgctctg	3	6	15	17	7	1	0	0	0	1	0	1	1	1	0	4	2	3	2	4	2	1	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:57243919C>G	ENST00000335099.3	+	3	1115	c.798C>G	c.(796-798)gaC>gaG	p.D266E		NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	266	LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GGGCGTGCGACTGCCGCGCGC	0.741													4	17					0	0	0	0	G	57243919	C	G	57243919	3	3	1	1	0	0	0	0	1	0	0	0	13817	564	20	4	808	4	RTN4RL2	11	57243919	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	5728443	57243919	77762597	95	95											
KDM2A	22992	broad.mit.edu	37	chr11	66985219	66985219	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtcttctggctcatcccCcctacagcccacaacctgga	8	8	7	18	0	3	0	1	0	2	0	4	1	4	1	5	3	3	1	5	3	2	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:66985219C>T	ENST00000529006.2	+	9	1151	c.705C>T	c.(703-705)ccC>ccT	p.P235P	KDM2A_ENST00000526258.1_Intron|KDM2A_ENST00000398645.2_Silent_p.P235P	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	235	JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GGCTCATCCCCCCTACAGCCC	0.483													5	39					0	0	0	0	T	66985219	C	T	66985219	2	4	1	1	0	0	0	0	0	0	0	1	8177	610	22	4		4	KDM2A	11	66985219	Silent	SNP	C	TCGA-BA-4074-01A-01D-1434-08	9741300	66985219	68021297	96	96											
ANO1	55107	broad.mit.edu	37	chr11	70028647	70028647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgacttcatcccgcgcCtggtgtacctctacatgtac	6	12	8	15	3	3	1	1	1	2	0	4	1	4	1	3	1	3	2	3	1	3	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:70028647C>T	ENST00000355303.5	+	24	2748	c.2443C>T	c.(2443-2445)Ctg>Ttg	p.L815L	ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000530676.1_Silent_p.L669L|ANO1_ENST00000531349.1_Silent_p.L524L|ANO1_ENST00000538023.1_Silent_p.L815L|ANO1_ENST00000398543.2_Silent_p.L669L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	815					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CATCCCGCGCCTGGTGTACCT	0.617													23	322					0	0	0	0	T	70028647	C	T	70028647	2	4	1	1	0	0	0	0	0	0	0	1	694	680	24	4		4	ANO1	11	70028647	Silent	SNP	C	TCGA-BA-4074-01A-01D-1434-08	3043428	70028647	64977869	97	97											
STARD10	10809	broad.mit.edu	37	chr11	72468875	72468875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccctgtgctctggatgaGgtagcccgtctggatggaca	6	9	16	10	1	2	1	0	1	2	0	2	4	2	4	2	5	2	2	2	5	1	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:72468875G>A	ENST00000334805.6	-	5	1433	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000545082.1_Missense_Mutation_p.L143F|STARD10_ENST00000543304.1_Missense_Mutation_p.L172F|STARD10_ENST00000538437.1_Intron|STARD10_ENST00000538536.1_Missense_Mutation_p.L126F	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	172	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			CTCTGGATGAGGTAGCCCGTC	0.612													35	47					0	0	0	0	A	72468875	G	A	72468875	3	1	1	1	0	0	0	0	1	0	0	0	15345	1000	35	4	373	4	STARD10	11	72468875	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	2440228	72468875	62537641	98	98											
TIRAP	114609	broad.mit.edu	37	chr11	126162997	126162997	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacgggattcagctacagtAtctgatctactttgactttt	10	15	8	8	1	3	2	1	2	2	0	3	4	3	3	0	1	4	2	0	1	4	7			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:126162997A>T	ENST00000392678.3	+	5	1122	c.693A>T	c.(691-693)gtA>gtT	p.V231V	TIRAP_ENST00000392680.2_Intron|TIRAP_ENST00000392679.1_Intron|RP11-712L6.7_ENST00000533378.1_RNA	NM_148910.2	NP_683708.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	100					3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		CAGCTACAGTATCTGATCTAC	0.512													16	24					0	0	0	0	T	126162997	A	T	126162997	2	4	1	1	0	0	0	0	0	0	0	1	16021	436	16	5		5	TIRAP	11	126162997	Silent	SNP	A	TCGA-BA-4074-01A-01D-1434-08	53694122	126162997	8843519	99	99											
SLC6A12	6539	broad.mit.edu	37	chr12	301770	301770	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtacacatagacgttgttGtacttgaggggggtgtactt	8	13	15	5	1	0	2	0	1	0	1	0	2	0	2	0	4	3	5	0	4	4	8			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:301770G>A	ENST00000428720.1	-	15	2318	c.1575C>T	c.(1573-1575)taC>taT	p.Y525Y	SLC6A12_ENST00000536824.1_Silent_p.Y525Y|SLC6A12_ENST00000424061.2_Silent_p.Y525Y|SLC6A12_ENST00000397296.2_Silent_p.Y525Y|SLC6A12_ENST00000359674.4_Silent_p.Y525Y	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	525					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGACGTTGTTGTACTTGAGGG	0.572													41	110					0	0	0	0	A	301770	G	A	301770	2	1	1	1	0	0	0	0	0	0	0	1	14763	1372	48	4		4	SLC6A12	12	301770	Silent	SNP	G	TCGA-BA-4074-01A-01D-1434-08		301770	133550125	100	100											
CHD4	1108	broad.mit.edu	37	chr12	6690898	6690898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttggggagggtgaccctGgctgggacatcttcttgttt	4	16	14	7	0	2	1	0	1	2	0	2	3	2	3	1	5	0	2	1	5	0	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:6690898G>A	ENST00000309577.6	-	30	4845	c.4682C>T	c.(4681-4683)cCa>cTa	p.P1561L	CHD4_ENST00000544484.1_Missense_Mutation_p.P1558L|CHD4_ENST00000544040.1_Missense_Mutation_p.P1526L|CHD4_ENST00000357008.2_Missense_Mutation_p.P1533L|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1533					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGGTGACCCTGGCTGGGACAT	0.562													66	154					0	0	0	0	A	6690898	G	A	6690898	3	1	1	1	0	0	0	0	1	0	0	0	3356	1348	47	4	1180	4	CHD4	12	6690898	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	6389128	6690898	127160997	101	101											
FAM90A1	55138	broad.mit.edu	37	chr12	8376719	8376719	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccttccttttccccaaaGttcggtggaaccagggctgc	6	12	9	14	1	0	0	0	0	0	0	4	1	3	1	5	3	2	2	5	3	2	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:8376719G>C	ENST00000538603.1	-	5	774	c.216C>G	c.(214-216)aaC>aaG	p.N72K	FAM90A1_ENST00000307435.6_Missense_Mutation_p.N72K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	72							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TTTCCCCAAAGTTCGGTGGAA	0.547													79	164					0	0	0	0	C	8376719	G	C	8376719	3	2	1	1	0	0	0	0	1	0	0	0	5695	1020	36	4	1190	4	FAM90A1	12	8376719	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	1685821	8376719	125475176	102	102											
PRPF40B	25766	broad.mit.edu	37	chr12	50037938	50037938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgagctggagaggcggcGgcggacactcctacagcagc	8	4	18	11	3	0	2	0	1	0	1	1	4	1	3	1	6	4	2	1	6	1	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:50037938G>A	ENST00000261897.1	+	25	3091	c.2540G>A	c.(2539-2541)cGg>cAg	p.R847Q	PRPF40B_ENST00000548825.2_Missense_Mutation_p.R881Q|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000380281.1_Missense_Mutation_p.R860Q			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	860					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GAGAGGCGGCGGCGGACACTC	0.607											OREG0021798	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	62					0	0	0	0	A	50037938	G	A	50037938	3	1	1	1	0	0	0	0	1	0	0	0	12652	1116	39	1	2677	1	PRPF40B	12	50037938	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	41661219	50037938	83813957	103	103											
GNPTAB	79158	broad.mit.edu	37	chr12	102151077	102151077	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgatttcttcttctcccAtgatttcaaacctaattatc	11	16	3	11	1	4	1	1	1	3	0	6	2	4	1	2	0	2	0	2	0	4	6			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:102151077A>G	ENST00000299314.7	-	18	3609	c.3347T>C	c.(3346-3348)aTg>aCg	p.M1116T		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1116					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTCTTCTCCCATGATTTCAAA	0.284													7	45					0	0	0	0	G	102151077	A	G	102151077	3	3	1	1	0	0	0	0	1	0	0	0	6596	217	8	5	439	5	GNPTAB	12	102151077	Missense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08	52113139	102151077	31700818	104	104											
DRAM1	55332	broad.mit.edu	37	chr12	102295157	102295157	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtttttaacttggtgtcTttagtgcttggattggtggg	4	19	13	5	0	1	0	0	0	1	0	1	1	1	1	1	4	2	2	1	4	2	8			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:102295157T>C	ENST00000258534.8	+	3	727	c.288T>C	c.(286-288)tcT>tcC	p.S96S	DRAM1_ENST00000544152.1_Silent_p.S96S	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	96					apoptosis|autophagy	integral to membrane|lysosomal membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						ACTTGGTGTCTTTAGTGCTTG	0.408													23	85					0	0	0	0	C	102295157	T	C	102295157	2	2	1	1	0	0	0	0	0	0	0	1	4789	1596	56	5		5	DRAM1	12	102295157	Silent	SNP	T	TCGA-BA-4074-01A-01D-1434-08	144080	102295157	31556738	105	105											
RAD9B	144715	broad.mit.edu	37	chr12	110968353	110968353	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcatgttctttggagcAgtttcttctgaccagcaaga	8	15	9	9	0	4	2	0	1	4	1	4	3	4	3	1	1	3	5	1	1	1	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:110968353A>G	ENST00000409246.1	+	11	1258	c.933A>G	c.(931-933)gcA>gcG	p.A311A	RAD9B_ENST00000409300.1_Silent_p.A383A|RAD9B_ENST00000409425.1_Silent_p.A311A|RAD9B_ENST00000409778.3_Intron|RAD9B_ENST00000392672.4_Silent_p.A383A			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	380					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TCTTTGGAGCAGTTTCTTCTG	0.433													36	127					0	0	0	0	G	110968353	A	G	110968353	2	3	1	1	0	0	0	0	0	0	0	1	13078	175	7	5		5	RAD9B	12	110968353	Silent	SNP	A	TCGA-BA-4074-01A-01D-1434-08	8673196	110968353	22883542	106	106											
ZMYM2	7750	broad.mit.edu	37	chr13	20656229	20656229	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacatttgagcaagaattgaAtaaaatactgcgaagctggc	17	9	9	6	1	0	3	0	2	0	1	0	4	0	3	0	1	5	2	0	1	8	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr13:20656229A>G	ENST00000382869.3	+	22	3778	c.3527A>G	c.(3526-3528)aAt>aGt	p.N1176S	ZMYM2_ENST00000382874.2_Missense_Mutation_p.N1176S|ZMYM2_ENST00000494061.1_3'UTR|ZMYM2_ENST00000382870.2_Missense_Mutation_p.N556S|ZMYM2_ENST00000382871.2_Missense_Mutation_p.N1176S	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAAGAATTGAATAAAATACTG	0.328													16	15					0	0	0	0	G	20656229	A	G	20656229	3	3	1	1	0	0	0	0	1	0	0	0	17795	101	4	5	3605	5	ZMYM2	13	20656229	Missense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08		20656229	94513649	107	107											
KATNAL1	84056	broad.mit.edu	37	chr13	30801627	30801627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcccacgggaaattagtagCagccaataccataaccattt	14	9	7	11	1	0	0	0	0	0	0	1	1	1	1	4	1	4	2	4	1	6	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr13:30801627C>T	ENST00000380615.3	-	9	1236	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	KATNAL1_ENST00000380617.3_Missense_Mutation_p.A357T	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	357						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		AAATTAGTAGCAGCCAATACC	0.378													20	43					0	0	0	0	T	30801627	C	T	30801627	3	4	1	1	0	0	0	0	1	0	0	0	8038	710	25	4	415	4	KATNAL1	13	30801627	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	10145398	30801627	84368251	108	108											
KLHL1	57626	broad.mit.edu	37	chr13	70535475	70535475	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacaaggtcccagagagcaTtggggtctatgccttccatt	9	10	12	10	0	1	1	0	0	1	1	3	3	3	2	3	4	2	1	3	4	2	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr13:70535475T>A	ENST00000377844.4	-	3	1541	c.782A>T	c.(781-783)aAt>aTt	p.N261I	KLHL1_ENST00000545028.1_Missense_Mutation_p.N68I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	261	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCAGAGAGCATTGGGGTCTAT	0.383													44	55					0	0	0	0	A	70535475	T	A	70535475	3	1	1	1	0	0	0	0	1	0	0	0	8417	1493	52	5	1500	5	KLHL1	13	70535475	Missense_Mutation	SNP	T	TCGA-BA-4074-01A-01D-1434-08	39733848	70535475	44634403	109	109											
SUPT16H	11198	broad.mit.edu	37	chr14	21831284	21831284	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctttctgatgtgctcttcGcttctcttctgcagtcattt	3	21	6	11	1	6	1	1	1	5	0	8	1	6	1	0	0	2	3	0	0	0	6			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:21831284G>A	ENST00000216297.2	-	13	1758	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	474					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTGCTCTTCGCTTCTCTTCT	0.398													58	171					0	0	0	0	A	21831284	G	A	21831284	4	1	1	1	0	0	0	0	0	1	0	0	15486	1095	38	1	1779	1	SUPT16H	14	21831284	Nonsense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08		21831284	85518256	110	110											
MYH7	4625	broad.mit.edu	37	chr14	23884668	23884668	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccacttcagtctggagctgGgacaggtcagcatccatctt	8	11	10	12	0	4	0	2	0	2	0	6	2	6	2	2	3	2	2	2	3	0	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:23884668G>A	ENST00000355349.3	-	36	5367	c.5205C>T	c.(5203-5205)tcC>tcT	p.S1735S	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1735					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		TCTGGAGCTGGGACAGGTCAG	0.557													46	125					0	0	0	0	A	23884668	G	A	23884668	2	1	1	1	0	0	0	0	0	0	0	1	10109	1219	43	4		4	MYH7	14	23884668	Silent	SNP	G	TCGA-BA-4074-01A-01D-1434-08	2053384	23884668	83464872	111	111											
GPR137C	283554	broad.mit.edu	37	chr14	53098999	53098999	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacattagaaagtccatttaAttatggctgggataatcttt	13	16	7	5	0	1	1	0	0	1	1	2	2	2	2	1	2	1	1	1	2	6	7			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:53098999A>C	ENST00000321662.6	+	4	839	c.839A>C	c.(838-840)aAt>aCt	p.N280T		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	280						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					AGTCCATTTAATTATGGCTGG	0.388													30	69					0	0	0	0	C	53098999	A	C	53098999	3	2	1	1	0	0	0	0	1	0	0	0	6696	101	4	5	853	5	GPR137C	14	53098999	Missense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08	29214331	53098999	54250541	112	112											
PLEKHH1	57475	broad.mit.edu	37	chr14	68008608	68008608	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaactcaaggtggaggcGccggccagcgtagactggca	10	4	16	11	3	1	2	1	0	0	2	1	3	1	3	2	5	2	3	2	5	3	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:68008608G>A	ENST00000329153.5	+	2	156	c.24G>A	c.(22-24)gcG>gcA	p.A8A		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	8						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGGTGGAGGCGCCGGCCAGCG	0.537													3	10					0	0	0	0	A	68008608	G	A	68008608	2	1	1	1	0	0	0	0	0	0	0	1	12148	1074	38	1		1	PLEKHH1	14	68008608	Silent	SNP	G	TCGA-BA-4074-01A-01D-1434-08	14909609	68008608	39340932	113	113											
ZFYVE26	23503	broad.mit.edu	37	chr14	68249583	68249583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacttcagtgagctgaaggGcccgggaccaatctctggcc	9	7	12	13	1	2	2	1	2	1	0	3	3	2	3	3	3	1	1	3	3	2	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:68249583G>A	ENST00000347230.4	-	21	4424	c.4286C>T	c.(4285-4287)gCc>gTc	p.A1429V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A1429V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1429					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GAGCTGAAGGGCCCGGGACCA	0.532													80	226					0	0	0	0	A	68249583	G	A	68249583	3	1	1	1	0	0	0	0	1	0	0	0	17763	1203	42	4	3421	4	ZFYVE26	14	68249583	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	240975	68249583	39099957	114	114											
PNMA1	9240	broad.mit.edu	37	chr14	74179621	74179621	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcatccctagagctcTcaacgctcccaaacacctgc	9	8	7	17	1	2	1	1	0	2	1	5	1	4	1	3	1	4	3	3	1	3	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:74179621T>C	ENST00000316836.3	-	1	1507	c.722A>G	c.(721-723)gAg>gGg	p.E241G		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	241					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		cctagagctctcaacgctccc	0.517													41	115					0	0	0	0	C	74179621	T	C	74179621	3	2	1	1	0	0	0	0	1	0	0	0	12225	1551	54	5	343	5	PNMA1	14	74179621	Missense_Mutation	SNP	T	TCGA-BA-4074-01A-01D-1434-08	5930038	74179621	33169919	115	115											
RPS6KA5	9252	broad.mit.edu	37	chr14	91338426	91338426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctaccatgcctaagctaCtgagtccgagaactggaaga	12	8	9	12	1	0	3	0	1	0	2	2	5	2	4	4	1	5	1	4	1	5	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:91338426C>T	ENST00000261991.3	-	17	2574	c.2401G>A	c.(2401-2403)Gta>Ata	p.V801I	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.V722I	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	801				VA -> ELRHGRSDQ (in Ref. 3; AAC69577).	axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCCTAAGCTACTGAGTCCGAG	0.483													54	128					0	0	0	0	T	91338426	C	T	91338426	3	4	1	1	0	0	0	0	1	0	0	0	13739	565	20	4	11	4	RPS6KA5	14	91338426	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	17158805	91338426	16011114	116	116											
RASGRP1	10125	broad.mit.edu	37	chr15	38794593	38794594	+	Frame_Shift_Ins	INS	-	-	T																															cctgagaaatgtatccatccINStggtcgtgatcatagttctt																										TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr15:38794593_38794594insT	ENST00000310803.5	-	12	1634_1635	c.1457_1458insA	c.(1456-1458)cgafs	p.R486fs	RASGRP1_ENST00000539159.1_Frame_Shift_Ins_p.R438fs|RASGRP1_ENST00000561180.1_Frame_Shift_Ins_p.R537fs|RASGRP1_ENST00000450598.2_Frame_Shift_Ins_p.R451fs|RASGRP1_ENST00000559830.1_Frame_Shift_Ins_p.R451fs|RASGRP1_ENST00000558164.1_Frame_Shift_Ins_p.R451fs	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	486	EF-hand 1.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGTATCCATCCTGGTCGTGATC	0.391													17	29	---	---	---	---					T	38794594	-	T	38794593	7	5	1	1	0	1	1	0	0	0	0	0	13156	680	24	0	959	0	RASGRP1	15	38794593	Frame_Shift_Ins	INS	-	TCGA-BA-4074-01A-01D-1434-08		38794593	63736799	117	117											
MNS1	55329	broad.mit.edu	37	chr15	56748614	56748614	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttctcttacttgttgccTcatcttttcgtcctttagac	4	21	5	11	1	3	1	1	0	2	1	6	1	4	1	2	0	2	2	2	0	2	9			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr15:56748614T>C	ENST00000260453.3	-	3	495	c.331A>G	c.(331-333)Agg>Ggg	p.R111G		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	111	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		ACTTGTTGCCTCATCTTTTCG	0.333													3	95					0	0	0	0	C	56748614	T	C	56748614	3	2	1	1	0	0	0	0	1	0	0	0	9747	1550	54	5	1188	5	MNS1	15	56748614	Missense_Mutation	SNP	T	TCGA-BA-4074-01A-01D-1434-08	17954021	56748614	45782778	118	118											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1812698	1812698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcccgagagcacccatccGtccaggagaagaagaagtcg	12	4	12	13	4	0	4	0	0	0	4	4	6	3	4	4	1	1	1	4	1	3	0			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:1812698G>A	ENST00000250894.4	+	15	1847	c.1690G>A	c.(1690-1692)Gtc>Atc	p.V564I	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.V558I	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	564					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|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						GCACCCATCCGTCCAGGAGAA	0.662													81	165					0	0	0	0	A	1812698	G	A	1812698	3	1	1	1	0	0	0	0	1	0	0	0	9355	1145	40	1	1764	1	MAPK8IP3	16	1812698	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08		1812698	88542055	119	119											
CREBBP	1387	broad.mit.edu	37	chr16	3786099	3786099	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcttcttcttgttctaGttccttaatgctctcttcta	4	21	3	13	0	6	0	0	0	6	0	9	0	8	0	2	0	1	3	2	0	3	9			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:3786099G>C	ENST00000262367.5	-	28	5475	c.4666C>G	c.(4666-4668)Cta>Gta	p.L1556V	CREBBP_ENST00000382070.3_Missense_Mutation_p.L1518V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1556	Interaction with TRERF1.|Poly-Glu.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTTGTTCTAGTTCCTTAATG	0.478			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						50	107					0	0	0	0	C	3786099	G	C	3786099	3	2	1	1	0	0	0	0	1	0	0	0	3891	1020	36	4	2678	4	CREBBP	16	3786099	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	1973401	3786099	86568654	120	120											
ANKS3	124401	broad.mit.edu	37	chr16	4747373	4747373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccagggctcccgagagctCggggaggctcatggcctgca	6	6	15	14	2	1	1	1	0	0	1	4	3	3	2	3	5	2	4	3	5	0	0			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:4747373C>T	ENST00000304283.4	-	16	2149	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	ANKS3_ENST00000446014.2_Missense_Mutation_p.E490K|ANKS3_ENST00000585773.1_Missense_Mutation_p.E546K	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	619										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CCCGAGAGCTCGGGGAGGCTC	0.657													48	119					0	0	0	0	T	4747373	C	T	4747373	3	4	1	1	0	0	0	0	1	0	0	0	689	893	31	1	123	1	ANKS3	16	4747373	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	961274	4747373	85607380	121	121											
SEPT12	124404	broad.mit.edu	37	chr16	4833975	4833975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacacgcagcagtgcacccGggtgtctgggatgtggcgct	6	8	16	11	3	1	0	0	0	1	0	1	1	1	1	1	3	3	5	1	3	1	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:4833975G>A	ENST00000268231.8	-	5	732	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	SEPT12_ENST00000396693.5_Intron	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	157					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CAGTGCACCCGGGTGTCTGGG	0.637													49	133					0	0	0	0	A	4833975	G	A	4833975	3	1	1	1	0	0	0	0	1	0	0	0	14149	1115	39	1	631	1	SEPT12	16	4833975	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	86602	4833975	85520778	122	122											
EARS2	124454	broad.mit.edu	37	chr16	23536527	23536527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agttcaaaggatcaatgaggGgctccagggaacaatccaac	15	6	11	9	0	2	1	2	1	0	0	4	3	4	3	2	4	2	2	2	4	5	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:23536527G>A	ENST00000563232.1	-	8	1526	c.1526C>T	c.(1525-1527)cCc>cTc	p.P509L	EARS2_ENST00000564987.1_Intron|EARS2_ENST00000564501.1_Intron|EARS2_ENST00000563459.1_Intron|EARS2_ENST00000449606.1_Intron			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	0					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	atcaatGAGGGGCTCCAGGGA	0.483													27	67					0	0	0	0	A	23536527	G	A	23536527	3	1	1	1	0	0	0	0	1	0	0	0	4914	1247	43	4		4	EARS2	16	23536527	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	18702552	23536527	66818226	123	123											
ARHGAP17	55114	broad.mit.edu	37	chr16	24971270	24971270	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atactccccttctttggccaTaaagttgtacatgtctgctg	8	15	7	11	0	2	0	0	0	2	0	3	0	3	0	3	1	3	3	3	1	4	6			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:24971270T>G	ENST00000289968.6	-	8	673	c.604A>C	c.(604-606)Atg>Ctg	p.M202L	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.M202L|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.M202L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	202	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TCTTTGGCCATAAAGTTGTAC	0.363													35	106					0	0	0	0	G	24971270	T	G	24971270	3	3	1	1	0	0	0	0	1	0	0	0	869	1406	49	5	2093	5	ARHGAP17	16	24971270	Missense_Mutation	SNP	T	TCGA-BA-4074-01A-01D-1434-08	1434743	24971270	65383483	124	124											
E2F4	1874	broad.mit.edu	37	chr16	67228755	67228755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtttctacacctccacCtctgcccaagcctgccctag	6	11	6	18	0	2	0	0	0	2	0	3	0	3	0	6	0	5	2	6	0	3	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:67228755C>T	ENST00000379378.3	+	6	739	c.680C>T	c.(679-681)cCt>cTt	p.P227L		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	227					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		ACACCTCCACCTCTGCCCAAG	0.597													48	95					0	0	0	0	T	67228755	C	T	67228755	3	4	1	1	0	0	0	0	1	0	0	0	4905	681	24	4	702	4	E2F4	16	67228755	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	42257485	67228755	23125998	125	125											
CDH1	999	broad.mit.edu	37	chr16	68853291	68853291	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattttgagcacgtgaagaaCagcacgtacacagccctaat	14	8	9	10	2	0	3	0	2	0	1	0	4	0	3	1	0	5	3	1	0	4	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:68853291C>A	ENST00000261769.5	+	11	1865	c.1674C>A	c.(1672-1674)aaC>aaA	p.N558K	CDH1_ENST00000422392.2_Missense_Mutation_p.N497K|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	558	Cadherin 4.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACGTGAAGAACAGCACGTACA	0.537			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				4	101					0.00909568	0.00933132	1	0	A	68853291	C	A	68853291	3	1	1	1	0	0	0	0	1	0	0	0	3124	477	17	4	1716	4	CDH1	16	68853291	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	1624536	68853291	21501462	126	126											
ZNF778	197320	broad.mit.edu	37	chr16	89293174	89293174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagtgaacactcaggcCtcagcacacacgtgagaact	12	8	8	13	1	3	2	3	2	0	1	3	3	3	2	1	1	3	1	1	1	2	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:89293174C>T	ENST00000433976.2	+	6	726	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	ZNF778_ENST00000306502.6_Missense_Mutation_p.L90F	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACACTCAGGCCTCAGCACACA	0.463													15	37					0	0	0	0	T	89293174	C	T	89293174	3	4	1	1	0	0	0	0	1	0	0	0	18244	681	24	4	412	4	ZNF778	16	89293174	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	20439883	89293174	1061579	127	127											
NUP88	4927	broad.mit.edu	37	chr17	5312067	5312067	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttacctgtgtaacagactGatgtatgtcaggaaagtctc	12	12	9	8	0	2	2	1	1	1	1	3	3	2	3	1	1	2	2	1	1	4	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:5312067G>A	ENST00000573584.1	-	5	1352	c.843C>T	c.(841-843)atC>atT	p.I281I		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	281					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GTAACAGACTGATGTATGTCA	0.438													86	64					0	0	0	0	A	5312067	G	A	5312067	2	1	1	1	0	0	0	0	0	0	0	1	10842	1280	45	2		2	NUP88	17	5312067	Silent	SNP	G	TCGA-BA-4074-01A-01D-1434-08		5312067	75883143	128	128											
PHF23	79142	broad.mit.edu	37	chr17	7139299	7139299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccgcatctcgccttcactgGagctggcatctccatcttgg	5	11	9	16	2	4	0	1	0	3	0	6	1	4	1	3	3	1	3	3	3	0	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:7139299G>A	ENST00000320316.3	-	4	1173	c.947C>T	c.(946-948)tCc>tTc	p.S316F	PHF23_ENST00000576955.1_Missense_Mutation_p.S186F|PHF23_ENST00000571362.1_Missense_Mutation_p.S249F|PHF23_ENST00000454255.2_Missense_Mutation_p.S312F	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	316							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GCCTTCACTGGAGCTGGCATC	0.587													416	274					0	0	0	0	A	7139299	G	A	7139299	3	1	1	1	0	0	0	0	1	0	0	0	11907	1174	41	2	272	2	PHF23	17	7139299	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	1827232	7139299	74055911	129	129											
TP53	7157	broad.mit.edu	37	chr17	7577507	7577507	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggctcctgacctggagtcTtccagtgtgatgatggtgag	6	12	15	8	0	1	4	0	4	1	0	3	5	3	5	3	3	0	1	3	3	0	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:7577507T>A	ENST00000420246.2	-	7	906	c.774A>T	c.(772-774)gaA>gaT	p.E258D	TP53_ENST00000359597.4_Missense_Mutation_p.E258D|TP53_ENST00000445888.2_Missense_Mutation_p.E258D|TP53_ENST00000455263.2_Missense_Mutation_p.E258D|TP53_ENST00000269305.4_Missense_Mutation_p.E258D|TP53_ENST00000413465.2_Missense_Mutation_p.E258D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	258	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E258D(9)|p.0?(8)|p.D259fs*5(1)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.D259fs*86(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCTGGAGTCTTCCAGTGTGA	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	31					0	0	0	0	A	7577507	T	A	7577507	3	1	1	1	0	0	0	0	1	0	0	0	16476	1606	56	5	516	5	TP53	17	7577507	Missense_Mutation	SNP	T	TCGA-BA-4074-01A-01D-1434-08	438208	7577507	73617703	130	130											
CNTROB	116840	broad.mit.edu	37	chr17	7836476	7836476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatcagaaccccctgggCtcaaccaagtgtcgtctgaa	11	9	8	13	1	4	2	3	1	1	1	5	2	4	2	3	1	2	1	3	1	4	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:7836476C>T	ENST00000380262.3	+	1	1004	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F	CNTROB_ENST00000563694.1_Missense_Mutation_p.L27F|CNTROB_ENST00000565740.1_Missense_Mutation_p.L27F|CNTROB_ENST00000380255.3_Missense_Mutation_p.L27F	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	27					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				ACCCCCTGGGCTCAACCAAGT	0.597													163	127					0	0	0	0	T	7836476	C	T	7836476	3	4	1	1	0	0	0	0	1	0	0	0	3681	797	28	4	81	4	CNTROB	17	7836476	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	258969	7836476	73358734	131	131											
STX8	9482	broad.mit.edu	37	chr17	9395196	9395196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccccatttgtttttggCgacttatgatagaggaaagg	9	13	11	8	1	0	2	0	1	0	1	0	4	0	3	3	3	1	1	3	3	3	5	rs143935601		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:9395196C>T	ENST00000306357.3	-	6	918	c.491G>A	c.(490-492)cGc>cAc	p.R164H	STX8_ENST00000574431.1_Missense_Mutation_p.R53H	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	164	t-SNARE coiled-coil homology.				transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						TTGTTTTTGGCGACTTATGAT	0.363													109	117					0	0	0	0	T	9395196	C	T	9395196	3	4	1	1	0	0	0	0	1	0	0	0	15441	768	27	1	231	1	STX8	17	9395196	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	1558720	9395196	71800014	132	132											
MYH4	4622	broad.mit.edu	37	chr17	10356164	10356164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatccattgtggattcttggGccaattttaggtcaccctcc	7	15	8	11	0	2	0	1	0	1	0	4	1	4	1	4	3	0	0	4	3	3	6			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:10356164G>A	ENST00000255381.2	-	25	3307	c.3197C>T	c.(3196-3198)gCc>gTc	p.A1066V	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1066					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGATTCTTGGGCCAATTTTAG	0.363													143	145					0	0	0	0	A	10356164	G	A	10356164	3	1	1	1	0	0	0	0	1	0	0	0	10107	1203	42	4	2686	4	MYH4	17	10356164	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	960968	10356164	70839046	133	133											
DNAH9	1770	broad.mit.edu	37	chr17	11550397	11550397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacccttgcaggtatgagaCaagactttatgaggattggt	11	12	12	6	0	0	4	0	3	0	2	0	6	0	5	1	3	1	2	1	3	3	5			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:11550397C>A	ENST00000262442.3	+	12	2047	c.1979C>A	c.(1978-1980)aCa>aAa	p.T660K	DNAH9_ENST00000454412.2_Missense_Mutation_p.T660K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	660	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGTATGAGACAAGACTTTAT	0.478													3	118					0.004672	0.00484323	1	0	A	11550397	C	A	11550397	3	1	1	1	0	0	0	0	1	0	0	0	4644	478	17	4	2025	4	DNAH9	17	11550397	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	1194233	11550397	69644813	134	134											
MPP2	4355	broad.mit.edu	37	chr17	41958711	41958711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcactgcccccttcgacatGgcatgcctaaaacggacatg	11	7	9	14	2	0	0	0	0	0	0	1	2	0	1	3	2	4	2	3	2	2	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:41958711G>A	ENST00000269095.4	-	8	1124	c.820C>T	c.(820-822)Cat>Tat	p.H274Y	MPP2_ENST00000377184.3_Missense_Mutation_p.H291Y|MPP2_ENST00000536246.1_Missense_Mutation_p.H263Y|MPP2_ENST00000523501.1_Missense_Mutation_p.H263Y|MPP2_ENST00000520305.1_Missense_Mutation_p.H135Y|MPP2_ENST00000518766.1_Missense_Mutation_p.H319Y|MPP2_ENST00000461854.1_Missense_Mutation_p.H298Y	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	298	SH3.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCTTCGACATGGCATGCCTAA	0.597											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	111	59					0	0	0	0	A	41958711	G	A	41958711	3	1	1	1	0	0	0	0	1	0	0	0	9804	1348	47	4	862	4	MPP2	17	41958711	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	30408314	41958711	39236499	135	135											
ACSF2	80221	broad.mit.edu	37	chr17	48540530	48540531	+	Frame_Shift_Ins	INS	-	-	C																															tgtcaggggacaacaggcagINSccccaagggggccaccctct																										TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:48540530_48540531insC	ENST00000427954.2	+	8	924_925	c.881_882insC	c.(880-882)accfs	p.T294fs	ACSF2_ENST00000502667.1_Frame_Shift_Ins_p.T256fs|ACSF2_ENST00000504392.1_Frame_Shift_Ins_p.T226fs|ACSF2_ENST00000541920.1_Frame_Shift_Ins_p.T109fs|ACSF2_ENST00000300441.4_Frame_Shift_Ins_p.T269fs			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	269					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ACAACAGGCAGCCCCAAGGGGG	0.589													36	326	---	---	---	---					C	48540531	-	C	48540530	7	5	1	1	0	1	1	0	0	0	0	0	175	971	34	0	832	0	ACSF2	17	48540530	Frame_Shift_Ins	INS	-	TCGA-BA-4074-01A-01D-1434-08	6581819	48540530	32654680	136	136											
FTSJ3	117246	broad.mit.edu	37	chr17	61903471	61903471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaccacattggggagaGgcttgattggaaccaggtcc	10	8	14	9	0	1	2	1	1	0	1	2	5	2	3	3	5	1	1	3	5	1	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:61903471G>A	ENST00000427159.2	-	5	890	c.245C>T	c.(244-246)cCt>cTt	p.P82L		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	82					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ATTGGGGAGAGGCTTGATTGG	0.468													130	98					0	0	0	0	A	61903471	G	A	61903471	3	1	1	1	0	0	0	0	1	0	0	0	6137	1000	35	4	2366	4	FTSJ3	17	61903471	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	13362941	61903471	19291739	137	137											
METRNL	284207	broad.mit.edu	37	chr17	81043036	81043036	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagaactgagactgctggtAccagacggggacggcaggcc	10	4	17	10	2	0	3	0	1	0	3	0	6	0	4	2	6	3	3	2	6	2	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:81043036A>G	ENST00000571814.1	+	1	1088	c.147A>G	c.(145-147)gtA>gtG	p.V49V	METRNL_ENST00000320095.7_Silent_p.V131V|METRNL_ENST00000570778.1_Silent_p.V49V			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	131						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GACTGCTGGTACCAGACGGGG	0.632													72	42					0	0	0	0	G	81043036	A	G	81043036	2	3	1	1	0	0	0	0	0	0	0	1	9558	378	14	5		5	METRNL	17	81043036	Silent	SNP	A	TCGA-BA-4074-01A-01D-1434-08	19139565	81043036	152174	138	138											
CDH2	1000	broad.mit.edu	37	chr18	25585828	25585828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaccaggctttgatccctCaggaactgtcccattccaaa	10	11	6	14	0	1	1	1	1	0	0	4	2	4	2	4	2	2	1	4	2	3	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr18:25585828C>G	ENST00000269141.3	-	6	1255	c.832G>C	c.(832-834)Gag>Cag	p.E278Q	CDH2_ENST00000399380.3_Missense_Mutation_p.E247Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	278	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTGATCCCTCAGGAACTGTC	0.388													48	116					0	0	0	0	G	25585828	C	G	25585828	3	3	1	1	0	0	0	0	1	0	0	0	3134	835	29	2	1932	2	CDH2	18	25585828	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08		25585828	52491420	139	139											
PIGN	23556	broad.mit.edu	37	chr18	59777191	59777191	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctacaaaactacaaggcaGgagatggcttggtttctgaa	14	9	11	7	0	1	2	0	1	1	1	1	3	1	2	0	4	4	4	0	4	6	4			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr18:59777191G>A	ENST00000357637.5	-	17	1865	c.1450C>T	c.(1450-1452)Ctg>Ttg	p.L484L	PIGN_ENST00000400334.3_Silent_p.L484L	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	484					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CTACAAGGCAGGAGATGGCTT	0.343													3	66					0	0	0	0	A	59777191	G	A	59777191	2	1	1	1	0	0	0	0	0	0	0	1	11965	991	35	4		4	PIGN	18	59777191	Silent	SNP	G	TCGA-BA-4074-01A-01D-1434-08	34191363	59777191	18300057	140	140											
CDH19	28513	broad.mit.edu	37	chr18	64239355	64239355	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcactggctgcttgactttCtttgtttgagagttttctgt	4	19	10	8	1	2	2	0	2	2	1	2	3	2	2	0	1	1	5	0	1	0	6			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr18:64239355C>G	ENST00000262150.2	-	2	379	c.87G>C	c.(85-87)aaG>aaC	p.K29N	CDH19_ENST00000540086.1_Missense_Mutation_p.K29N	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	29					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GCTTGACTTTCTTTGTTTGAG	0.428													19	39					0	0	0	0	G	64239355	C	G	64239355	3	3	1	1	0	0	0	0	1	0	0	0	3133	912	32	2	2275	2	CDH19	18	64239355	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	4462164	64239355	13837893	141	141											
NETO1	81832	broad.mit.edu	37	chr18	70423379	70423379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatgtgttgccttcacaaGgagctaaaaagaagaagaac	18	7	10	6	0	1	4	1	0	0	4	1	5	1	5	1	1	3	2	1	1	8	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr18:70423379G>T	ENST00000327305.6	-	8	1529	c.872C>A	c.(871-873)cCt>cAt	p.P291H	NETO1_ENST00000299430.2_Missense_Mutation_p.P290H|NETO1_ENST00000583169.1_Missense_Mutation_p.P291H	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	291	LDL-receptor class A.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCCTTCACAAGGAGCTAAAAA	0.333													29	50					4.87955e-14	5.27952e-14	1	0	T	70423379	G	T	70423379	3	4	1	1	0	0	0	0	1	0	0	0	10409	1000	35	4	741	4	NETO1	18	70423379	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	6184024	70423379	7653869	142	142											
ZNF236	7776	broad.mit.edu	37	chr18	74631933	74631933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgagggacaagcaggCggagctgcaggacgagccca	11	3	17	10	2	0	2	0	2	0	0	0	6	0	5	1	4	5	4	1	4	1	0			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr18:74631933C>T	ENST00000253159.8	+	20	3668	c.3470C>T	c.(3469-3471)gCg>gTg	p.A1157V	ZNF236_ENST00000320610.9_Missense_Mutation_p.A1159V	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1157					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GACAAGCAGGCGGAGCTGCAG	0.627													13	24					0	0	0	0	T	74631933	C	T	74631933	3	4	1	1	0	0	0	0	1	0	0	0	17884	768	27	1	3548	1	ZNF236	18	74631933	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	4208554	74631933	3445315	143	143											
TBXA2R	6915	broad.mit.edu	37	chr19	3600302	3600302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccgaagaagatcatgaCgacgcccatgaagcgacaga	15	3	12	11	4	1	5	1	2	0	3	1	8	1	5	2	1	1	0	2	1	3	0			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:3600302C>T	ENST00000375190.4	-	2	724	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	TBXA2R_ENST00000411851.3_Missense_Mutation_p.V111I|TBXA2R_ENST00000589966.1_Missense_Mutation_p.V111I	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	111					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AAGATCATGACGACGCCCATG	0.692													13	23					0	0	0	0	T	3600302	C	T	3600302	3	4	1	1	0	0	0	0	1	0	0	0	15757	536	19	1	953	1	TBXA2R	19	3600302	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08		3600302	55528681	144	144											
ACSBG2	81616	broad.mit.edu	37	chr19	6187796	6187796	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagccatgaacaatgcaCagaggattgaaaagtgggtc	16	6	13	6	0	0	3	0	2	0	1	1	5	0	5	1	3	3	1	1	3	5	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:6187796C>T	ENST00000588304.1	+	13	2163	c.1717C>T	c.(1717-1719)Cag>Tag	p.Q573*	ACSBG2_ENST00000588485.1_Nonsense_Mutation_p.Q436*|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Nonsense_Mutation_p.Q623*|ACSBG2_ENST00000586696.1_Nonsense_Mutation_p.Q623*|ACSBG2_ENST00000591403.1_Nonsense_Mutation_p.Q623*			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	623					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAACAATGCACAGAGGATTGA	0.507													54	159					0	0	0	0	T	6187796	C	T	6187796	4	4	1	1	0	0	0	0	0	1	0	0	174	479	17	4	1913	4	ACSBG2	19	6187796	Nonsense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	2587494	6187796	52941187	145	145											
ZNF266	10781	broad.mit.edu	37	chr19	9524051	9524051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacattcatagggtttcTctccagtgtgagttcgttca	7	16	8	10	1	3	1	2	1	1	0	6	1	4	1	2	1	1	3	2	1	2	6			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:9524051T>C	ENST00000592904.1	-	5	3626	c.1550A>G	c.(1549-1551)gAg>gGg	p.E517G	ZNF266_ENST00000588221.1_Missense_Mutation_p.E517G|ZNF266_ENST00000361151.1_Missense_Mutation_p.E517G|ZNF266_ENST00000592292.1_Missense_Mutation_p.E517G|ZNF266_ENST00000588933.1_Missense_Mutation_p.E517G|ZNF266_ENST00000590306.1_Missense_Mutation_p.E517G|ZNF266_ENST00000361451.2_Missense_Mutation_p.E517G			Q14584	ZN266_HUMAN	zinc finger protein 266	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						ATAGGGTTTCTCTCCAGTGTG	0.438													47	116					0	0	0	0	C	9524051	T	C	9524051	3	2	1	1	0	0	0	0	1	0	0	0	17900	1551	54	5	103	5	ZNF266	19	9524051	Missense_Mutation	SNP	T	TCGA-BA-4074-01A-01D-1434-08	3336255	9524051	49604932	146	146											
PODNL1	79883	broad.mit.edu	37	chr19	14044707	14044707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtacctgaaggtggtggcatCcaggccactgtctgtcagct	7	10	13	11	0	2	1	1	1	1	0	3	1	3	1	3	4	2	3	3	4	2	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:14044707C>G	ENST00000538517.2	-	5	743	c.499G>C	c.(499-501)Gat>Cat	p.D167H	PODNL1_ENST00000339560.5_Missense_Mutation_p.D258H|PODNL1_ENST00000538371.2_Missense_Mutation_p.D256H|PODNL1_ENST00000254320.3_Missense_Mutation_p.D176H	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	258	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GTGGTGGCATCCAGGCCACTG	0.612													3	17					0	0	0	0	G	14044707	C	G	14044707	3	3	1	1	0	0	0	0	1	0	0	0	12251	855	30	2	774	2	PODNL1	19	14044707	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	4520656	14044707	45084276	147	147											
ZNF676	163223	broad.mit.edu	37	chr19	22363783	22363783	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtttctctccagtatgaaTtatcttatgtttagtaagga	10	17	9	5	0	2	1	0	1	2	0	4	2	3	2	1	2	0	4	1	2	6	7			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:22363783T>C	ENST00000397121.2	-	3	1053	c.736A>G	c.(736-738)Att>Gtt	p.I246V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCAGTATGAATTATCTTATGT	0.358													17	194					0	0	0	0	C	22363783	T	C	22363783	3	2	1	1	0	0	0	0	1	0	0	0	18178	1493	52	5	1034	5	ZNF676	19	22363783	Missense_Mutation	SNP	T	TCGA-BA-4074-01A-01D-1434-08	8319076	22363783	36765200	148	148											
CYP2A13	1553	broad.mit.edu	37	chr19	41594389	41594389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaccatgctggcctcaGggctgcttctggtgaccttg	4	11	12	14	0	2	1	1	1	1	0	2	1	2	1	4	3	3	3	4	3	0	2	rs71579358		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:41594389G>A	ENST00000330436.3	+	1	13	c.13G>A	c.(13-15)Ggg>Agg	p.G5R		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	5					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GCTGGCCTCAGGGCTGCTTCT	0.557													17	52					0	0	0	0	A	41594389	G	A	41594389	3	1	1	1	0	0	0	0	1	0	0	0	4193	1000	35	4	15	4	CYP2A13	19	41594389	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	19230606	41594389	17534594	149	149											
CCDC9	26093	broad.mit.edu	37	chr19	47763905	47763905	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcccccaggggccagcAaggggggccggactcctcca	6	3	15	17	2	0	0	0	0	0	0	3	1	2	1	6	7	1	1	6	7	1	0			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:47763905A>T	ENST00000221922.6	+	5	493	c.271A>T	c.(271-273)Aag>Tag	p.K91*		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	91	Gly-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGGGCCAGCAAGGGGGGCCG	0.706													28	96					0	0	0	0	T	47763905	A	T	47763905	4	4	1	1	0	0	0	0	0	1	0	0	2894	131	5	5	285	5	CCDC9	19	47763905	Nonsense_Mutation	SNP	A	TCGA-BA-4074-01A-01D-1434-08	6169516	47763905	11365078	150	150											
MYH14	79784	broad.mit.edu	37	chr19	50785002	50785002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggctggagcggggccgccGccggctgcagcaggagctgg	4	4	20	13	5	0	0	0	0	0	0	1	2	0	2	3	7	4	5	3	7	0	0			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:50785002G>A	ENST00000440075.2	+	33	4489	c.4442G>A	c.(4441-4443)cGc>cAc	p.R1481H	MYH14_ENST00000601313.1_Missense_Mutation_p.R1481H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1481H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1448H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1473H|MYH14_ENST00000596571.1_Missense_Mutation_p.R1440H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1448H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1440					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CGGGGCCGCCGCCGGCTGCAG	0.701													5	15					0	0	0	0	A	50785002	G	A	50785002	3	1	1	1	0	0	0	0	1	0	0	0	10103	1087	38	1	4568	1	MYH14	19	50785002	Missense_Mutation	SNP	G	TCGA-BA-4074-01A-01D-1434-08	3021097	50785002	8343981	151	151											
ZNF578	147660	broad.mit.edu	37	chr19	53015012	53015012	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttacaaatgtgaagaaTgtgacagagttttcagtcag	15	12	9	5	0	3	4	2	2	1	2	3	4	3	4	0	0	1	1	0	0	5	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:53015012T>G	ENST00000421239.2	+	6	1622	c.1378T>G	c.(1378-1380)Tgt>Ggt	p.C460G	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTGAAGAATGTGACAGAGT	0.378													24	77					0	0	0	0	G	53015012	T	G	53015012	3	3	1	1	0	0	0	0	1	0	0	0	18105	1464	51	5	1388	5	ZNF578	19	53015012	Missense_Mutation	SNP	T	TCGA-BA-4074-01A-01D-1434-08	2230010	53015012	6113971	152	152											
NLRP12	91662	broad.mit.edu	37	chr19	54327177	54327177	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctgtcctctctcccacagGtccttcctgtttatccgctc	3	15	5	18	1	2	0	0	0	2	0	9	0	7	0	5	1	0	2	5	1	1	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:54327177G>A	ENST00000324134.6	-	1	420	c.252C>T	c.(250-252)gaC>gaT	p.D84D	NLRP12_ENST00000351894.4_Silent_p.D84D|NLRP12_ENST00000345770.5_Silent_p.D84D|NLRP12_ENST00000535162.1_Silent_p.D84D|NLRP12_ENST00000391772.1_Silent_p.D84D|NLRP12_ENST00000354278.3_Silent_p.D84D|NLRP12_ENST00000391773.1_Silent_p.D84D|NLRP12_ENST00000391775.3_Silent_p.D84D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	84	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCTCCCACAGGTCCTTCCTGT	0.607													94	216					0	0	0	0	A	54327177	G	A	54327177	2	1	1	1	0	0	0	0	0	0	0	1	10544	1252	44	4		4	NLRP12	19	54327177	Silent	SNP	G	TCGA-BA-4074-01A-01D-1434-08	1312165	54327177	4801806	153	153											
LAIR2	3904	broad.mit.edu	37	chr19	55020273	55020273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcccggactccccggaCacagagcccggctcctcagc	7	3	13	18	3	1	1	1	0	0	1	3	4	3	4	5	5	2	1	5	5	0	0			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:55020273C>A	ENST00000301202.2	+	4	515	c.393C>A	c.(391-393)gaC>gaA	p.D131E	LAIR2_ENST00000351841.2_Intron	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	131						extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACTCCCCGGACACAGAGCCCG	0.632													20	53					1.42536e-11	1.53381e-11	1	0	A	55020273	C	A	55020273	3	1	1	1	0	0	0	0	1	0	0	0	8656	477	17	4	407	4	LAIR2	19	55020273	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	693096	55020273	4108710	154	154											
FIZ1	84922	broad.mit.edu	37	chr19	56104586	56104586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgccgctccagcagcgCgggcgcgttgaagtcgcgct	4	8	15	14	7	0	1	0	1	0	0	2	1	1	1	2	1	3	4	2	1	1	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:56104586C>A	ENST00000221665.3	-	3	810	c.721G>T	c.(721-723)Gcg>Tcg	p.A241S		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	p.A241S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCCAGCAGCGCGGGCGCGTTG	0.776													8	10					1.12685e-05	1.18679e-05	1	0	A	56104586	C	A	56104586	3	1	1	1	0	0	0	0	1	0	0	0	5945	768	27	3	773	3	FIZ1	19	56104586	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08	1084313	56104586	3024397	155	155											
NLRP13	126204	broad.mit.edu	37	chr19	56422072	56422072	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaatgctgttccatgcGtgcatcctggaatcaaactt	11	11	9	10	1	1	0	1	0	0	0	3	2	3	1	2	1	5	4	2	1	3	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:56422072G>A	ENST00000588751.1	-	6	2163	c.2139C>T	c.(2137-2139)caC>caT	p.H713H	NLRP13_ENST00000342929.3_Silent_p.H713H			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	713							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTTCCATGCGTGCATCCTGG	0.463													44	129					0	0	0	0	A	56422072	G	A	56422072	2	1	1	1	0	0	0	0	0	0	0	1	10545	1136	40	1		1	NLRP13	19	56422072	Silent	SNP	G	TCGA-BA-4074-01A-01D-1434-08	317486	56422072	2706911	156	156											
TNFRSF6B	8771	broad.mit.edu	37	chr20	62329691	62329691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttccaggacatctccatCaagaggctgcagcggctgct	8	9	11	13	1	2	1	1	0	1	1	4	2	3	2	2	3	3	5	2	3	1	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr20:62329691C>G	ENST00000369996.1	+	3	778	c.678C>G	c.(676-678)atC>atG	p.I226M	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	226					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			ACATCTCCATCAAGAGGCTGC	0.672													11	43					0	0	0	0	G	62329691	C	G	62329691	3	3	1	1	0	0	0	0	1	0	0	0	16392	816	29	2	688	2	TNFRSF6B	20	62329691	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08		62329691	695829	157	157											
TRPM2	7226	broad.mit.edu	37	chr21	45837865	45837865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttggaagttccagcgcCatgacctgatcgaggagtac	11	9	12	9	2	0	3	0	2	0	1	2	6	1	5	3	2	2	2	3	2	2	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr21:45837865C>T	ENST00000397928.1	+	21	3647	c.3202C>T	c.(3202-3204)Cat>Tat	p.H1068Y	TRPM2_ENST00000300482.5_Missense_Mutation_p.H1068Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.H1068Y|TRPM2_ENST00000300481.9_Missense_Mutation_p.H1048Y|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1068						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GTTCCAGCGCCATGACCTGAT	0.612													34	77					0	0	0	0	T	45837865	C	T	45837865	3	4	1	1	0	0	0	0	1	0	0	0	16681	594	21	4	3284	4	TRPM2	21	45837865	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08		45837865	2292030	158	158											
COL6A1	1291	broad.mit.edu	37	chr21	47410318	47410318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcaagcgtggcatcgaCggggtggacggcgtgaaggt	9	5	20	7	5	0	1	0	1	0	0	1	3	0	2	0	7	1	2	0	7	3	0			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr21:47410318C>T	ENST00000361866.3	+	13	1098	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	328	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GTGGCATCGACGGGGTGGACG	0.647													19	56					0	0	0	0	T	47410318	C	T	47410318	2	4	1	1	0	0	0	0	0	0	0	1	3729	535	19	1		1	COL6A1	21	47410318	Silent	SNP	C	TCGA-BA-4074-01A-01D-1434-08	1572453	47410318	719577	159	159											
ZC3H7B	23264	broad.mit.edu	37	chr22	41736067	41736067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggacctgctgccgtactCggagacccggctggatgcac	6	7	13	15	3	0	1	0	0	0	1	1	4	0	3	4	4	4	4	4	4	1	1			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr22:41736067C>T	ENST00000352645.4	+	10	1321	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S355L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	371					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTGCCGTACTCGGAGACCCGG	0.652													20	61					0	0	0	0	T	41736067	C	T	41736067	3	4	1	1	0	0	0	0	1	0	0	0	17668	893	31	1	1098	1	ZC3H7B	22	41736067	Missense_Mutation	SNP	C	TCGA-BA-4074-01A-01D-1434-08		41736067	9568499	160	160											
FAM47A	158724	broad.mit.edu	37	chrX	34149589	34149589	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcttccagcttcctctcAgaatccagtttcagcagctg	7	12	8	14	1	3	1	2	0	2	1	7	1	6	1	3	0	3	4	3	0	1	3			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chrX:34149589A>C	ENST00000346193.3	-	1	858	c.807T>G	c.(805-807)tcT>tcG	p.S269S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	269										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCTTCCTCTCAGAATCCAGTT	0.587													22	26					0	0	0	0	C	34149589	A	C	34149589	2	2	1	1	0	0	0	0	0	0	0	1	5616	175	7	5		5	FAM47A	23	34149589	Silent	SNP	A	TCGA-BA-4074-01A-01D-1434-08		34149589	121120971	161	161											
SRPX	8406	broad.mit.edu	37	chrX	38024064	38024064	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcttccttcgggtgtcTcccaggacacccggactgtc	4	12	10	15	2	2	0	0	0	2	0	7	2	3	2	3	3	0	0	3	3	0	2			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chrX:38024064T>A	ENST00000378533.3	-	5	717	c.611A>T	c.(610-612)gAg>gTg	p.E204V	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.E191V|SRPX_ENST00000544439.1_Missense_Mutation_p.E184V|SRPX_ENST00000432886.2_Missense_Mutation_p.E145V|SRPX_ENST00000538295.1_Missense_Mutation_p.E204V	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	204	HYR.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TTCGGGTGTCTCCCAGGACAC	0.433													5	34					0	0	0	0	A	38024064	T	A	38024064	3	1	1	1	0	0	0	0	1	0	0	0	15254	1551	54	5	807	5	SRPX	23	38024064	Missense_Mutation	SNP	T	TCGA-BA-4074-01A-01D-1434-08	3874475	38024064	117246496	162	162											
RERE	473	broad.mit.edu	37	chr1	8616534	8616534	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgtctccagtacttacCtaagggcagcagcatggtaa	12	8	10	11	1	1	0	0	0	1	0	2	0	1	0	2	2	5	6	2	2	4	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:8616534C>G	ENST00000337907.3	-	7	1359	c.725_splice	c.e7+1	p.R242_splice	RERE_ENST00000400907.2_Splice_Site_p.R242_splice|RERE_ENST00000400908.2_Splice_Site_p.R242_splice	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	242	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGTACTTACCTAAGGGCAGC	0.443													45	320					0	0	0	0	G	8616534	C	G	8616534	5	3	2	1	0	0	0	0	0	0	1	0	13313	695	24	4	4047	4	RERE	1	8616534	Splice_Site	SNP	C	TCGA-BA-4075-01A-01D-1434-08		8616534	240634087	1	163											
USP48	84196	broad.mit.edu	37	chr1	22016569	22016569	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaattctggtcaaaaggAgcaactgaaaatgcatgcat	17	8	9	7	0	2	1	1	1	1	0	2	3	2	2	0	2	4	3	0	2	6	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:22016569A>G	ENST00000308271.9	-	24	3555	c.2907T>C	c.(2905-2907)gcT>gcC	p.A969A	USP48_ENST00000529637.1_Silent_p.A981A|USP48_ENST00000400301.1_Silent_p.A917A|USP48_ENST00000374732.3_Silent_p.A455A	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	969	Ubiquitin-like.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GGTCAAAAGGAGCAACTGAAA	0.358													26	65					0	0	0	0	G	22016569	A	G	22016569	2	3	2	1	0	0	0	0	0	0	0	1	17175	291	11	5		5	USP48	1	22016569	Silent	SNP	A	TCGA-BA-4075-01A-01D-1434-08	13400035	22016569	227234052	2	164											
FABP3	2170	broad.mit.edu	37	chr1	31840248	31840248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccatcttaccaggatgaGttttccatcaattagctccc	9	13	6	13	0	2	1	1	1	1	0	4	2	4	2	4	1	3	2	4	1	3	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:31840248G>A	ENST00000373713.2	-	3	401	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	114					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		ACCAGGATGAGTTTTCCATCA	0.478													101	265					0	0	0	0	A	31840248	G	A	31840248	3	1	2	1	0	0	0	0	1	0	0	0	5399	1029	36	4	69	4	FABP3	1	31840248	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	9823679	31840248	217410373	3	165											
RRAGC	64121	broad.mit.edu	37	chr1	39322630	39322630	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgggtcaaaaaagtccAtttgcccaggaaaatcccat	14	9	9	9	0	1	0	1	0	0	0	3	1	3	1	3	3	1	1	3	3	5	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:39322630A>C	ENST00000373001.3	-	2	538	c.362T>G	c.(361-363)aTg>aGg	p.M121R		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	121					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				AAAAAAGTCCATTTGCCCAGG	0.398													62	177					0	0	0	0	C	39322630	A	C	39322630	3	2	2	1	0	0	0	0	1	0	0	0	13759	217	8	5	861	5	RRAGC	1	39322630	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	7482382	39322630	209927991	4	166											
TMEM53	79639	broad.mit.edu	37	chr1	45120269	45120269	+	Missense_Mutation	SNP	G	G	T																															gcgcatgaagtcgacacagaGgcttgtgtagtaagtagggt																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:45120269G>T	ENST00000372237.3	-	3	959	c.796C>A	c.(796-798)Ctc>Atc	p.L266I	TMEM53_ENST00000372235.3_Missense_Mutation_p.L236I|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	266						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					TCGACACAGAGGCTTGTGTAG	0.587													14	87					4.7546e-09	5.67485e-09	1	0	T	45120269	G	T	45120269	3	4	2	1	0	0	0	0	1	0	0	0	16273	1000	35	4	41	4	TMEM53	1	45120269	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	5797639	45120269	204130352	5	167	1	2									
TMEM53	79639	broad.mit.edu	37	chr1	45120270	45120270	+	Missense_Mutation	SNP	G	G	T																															cgcatgaagtcgacacagagGcttgtgtagtaagtagggta																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:45120270G>T	ENST00000372237.3	-	3	958	c.795C>A	c.(793-795)agC>agA	p.S265R	TMEM53_ENST00000372235.3_Missense_Mutation_p.S235R|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	265						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					CGACACAGAGGCTTGTGTAGT	0.582													14	88					6.31663e-08	7.3694e-08	1	0	T	45120270	G	T	45120270	3	4	2	1	0	0	0	0	1	0	0	0	16273	1194	42	4	42	4	TMEM53	1	45120270	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	1	45120270	204130351	6	168	1	2									
NASP	4678	broad.mit.edu	37	chr1	46073529	46073529	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggtggggacgagccagagGagaaggtagttacctctgaa	11	7	17	6	1	1	3	0	1	1	2	1	6	1	4	2	5	2	2	2	5	4	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:46073529G>T	ENST00000350030.3	+	6	1033	c.946G>T	c.(946-948)Gag>Tag	p.E316*	NASP_ENST00000402363.3_Nonsense_Mutation_p.E318*|NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Nonsense_Mutation_p.E252*	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	316	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					CGAGCCAGAGGAGAAGGTAGT	0.527													5	57					0.00116845	0.00125053	1	0	T	46073529	G	T	46073529	4	4	2	1	0	0	0	0	0	1	0	0	10242	1175	41	2	1045	2	NASP	1	46073529	Nonsense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	953259	46073529	203177092	7	169											
TGFBR3	7049	broad.mit.edu	37	chr1	92177865	92177865	+	Missense_Mutation	SNP	G	G	A																															cagctcacactgtagaaagaGcagtgaggtgttgaagacag																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:92177865G>A	ENST00000212355.4	-	13	2566	c.2101C>T	c.(2101-2103)Ctc>Ttc	p.L701F	TGFBR3_ENST00000370399.2_Missense_Mutation_p.L700F|TGFBR3_ENST00000525962.1_Missense_Mutation_p.L701F	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	701	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TGTAGAAAGAGCAGTGAGGTG	0.478													21	48					0	0	0	0	A	92177865	G	A	92177865	3	1	2	1	0	0	0	0	1	0	0	0	15917	971	34	4	474	4	TGFBR3	1	92177865	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	46104336	92177865	157072756	8	170	2	2									
TGFBR3	7049	broad.mit.edu	37	chr1	92177866	92177866	+	Silent	SNP	C	C	A																															agctcacactgtagaaagagCagtgaggtgttgaagacagg																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:92177866C>A	ENST00000212355.4	-	13	2565	c.2100G>T	c.(2098-2100)ctG>ctT	p.L700L	TGFBR3_ENST00000370399.2_Silent_p.L699L|TGFBR3_ENST00000525962.1_Silent_p.L700L	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	700	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GTAGAAAGAGCAGTGAGGTGT	0.478													21	49					1.22574e-08	1.45627e-08	1	0	A	92177866	C	A	92177866	2	1	2	1	0	0	0	0	0	0	0	1	15917	697	25	4		4	TGFBR3	1	92177866	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	1	92177866	157072755	9	171	2	2									
GPR61	83873	broad.mit.edu	37	chr1	110086823	110086823	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactggctgtccttctgaGtcctgggtttcccgacccct	3	12	12	14	1	1	1	0	1	1	0	4	3	4	2	5	3	0	2	5	3	0	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:110086823G>A	ENST00000527748.1	+	2	1862	c.1179G>A	c.(1177-1179)gaG>gaA	p.E393E		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	393						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GTCCTTCTGAGTCCTGGGTTT	0.602													22	49					0	0	0	0	A	110086823	G	A	110086823	2	1	2	1	0	0	0	0	0	0	0	1	6751	1020	36	4		4	GPR61	1	110086823	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08	17908957	110086823	139163798	10	172											
RPRD2	23248	broad.mit.edu	37	chr1	150443141	150443141	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaccacagtctctaccAtaaagggaagaaatctgccc	15	6	6	14	0	2	1	0	0	2	1	3	2	2	2	4	1	3	0	4	1	6	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:150443141A>G	ENST00000401000.4	+	10	1704	c.1639A>G	c.(1639-1641)Ata>Gta	p.I547V	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.I547V|RPRD2_ENST00000369068.4_Missense_Mutation_p.I573V			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	573	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGTCTCTACCATAAAGGGAAG	0.478													4	65					0	0	0	0	G	150443141	A	G	150443141	3	3	2	1	0	0	0	0	1	0	0	0	13702	217	8	5	1759	5	RPRD2	1	150443141	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	40356318	150443141	98807480	11	173											
TMOD4	29765	broad.mit.edu	37	chr1	151146931	151146931	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctagtgcctgttgctcCaagtactgcaaaagggcctc	9	11	9	12	0	1	0	0	0	1	0	3	0	2	0	3	1	4	4	3	1	5	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:151146931C>T	ENST00000416280.2	-	3	315	c.216G>A	c.(214-216)ttG>ttA	p.L72L				Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	124					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTGTTGCTCCAAGTACTGCA	0.552													73	288					0	0	0	0	T	151146931	C	T	151146931	2	4	2	1	0	0	0	0	0	0	0	1	16330	593	21	4		4	TMOD4	1	151146931	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	703790	151146931	98103690	12	174											
ASH1L	55870	broad.mit.edu	37	chr1	155450127	155450127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagggatttttaaagtcCttttaggtggcccttccagt	9	14	10	8	0	0	0	0	0	0	0	2	1	2	1	3	3	1	1	3	3	4	6			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:155450127C>T	ENST00000368346.3	-	3	3173	c.2534G>A	c.(2533-2535)aGg>aAg	p.R845K	ASH1L_ENST00000392403.3_Missense_Mutation_p.R845K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	845					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTTAAAGTCCTTTTAGGTGG	0.393													8	269					0	0	0	0	T	155450127	C	T	155450127	3	4	2	1	0	0	0	0	1	0	0	0	1045	681	24	4	6464	4	ASH1L	1	155450127	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	4303196	155450127	93800494	13	175											
HAPLN2	60484	broad.mit.edu	37	chr1	156594410	156594410	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagcttggaccgagggtctgGactggtgtaacgcgggctgg	6	8	18	9	3	1	0	0	0	1	0	1	3	1	2	1	6	2	3	1	6	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:156594410G>C	ENST00000255039.1	+	6	981	c.574G>C	c.(574-576)Gac>Cac	p.D192H	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	192	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGAGGGTCTGGACTGGTGTAA	0.726													4	34					0	0	0	0	C	156594410	G	C	156594410	3	2	2	1	0	0	0	0	1	0	0	0	7005	1174	41	2	588	2	HAPLN2	1	156594410	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	1144283	156594410	92656211	14	176											
POU2F1	5451	broad.mit.edu	37	chr1	167384851	167384851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctctgttcctgaaccCtcagaacctctctctgctca	6	12	5	18	0	5	2	2	1	3	1	7	2	6	2	5	0	4	2	5	0	2	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:167384851C>T	ENST00000367862.5	+	16	2307	c.2072C>T	c.(2071-2073)cCt>cTt	p.P691L	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.P639L|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_Missense_Mutation_p.P679L|POU2F1_ENST00000367866.2_Missense_Mutation_p.P702L	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	679					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TTCCTGAACCCTCAGAACCTC	0.572													16	205					0	0	0	0	T	167384851	C	T	167384851	3	4	2	1	0	0	0	0	1	0	0	0	12342	681	24	4	2094	4	POU2F1	1	167384851	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	10790441	167384851	81865770	15	177											
FMO4	2329	broad.mit.edu	37	chr1	171303578	171303578	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaattcattgtgaatgatGagctgccaaactgtatcctc	13	12	7	9	0	1	3	1	3	0	0	3	3	2	3	2	0	3	2	2	0	5	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:171303578G>T	ENST00000367749.3	+	8	1186	c.856G>T	c.(856-858)Gag>Tag	p.E286*		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	286					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTGAATGATGAGCTGCCAAA	0.373													16	68					4.7546e-09	5.67485e-09	1	0	T	171303578	G	T	171303578	4	4	2	1	0	0	0	0	0	1	0	0	6002	1291	45	2	878	2	FMO4	1	171303578	Nonsense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	3918727	171303578	77947043	16	178											
ZNF648	127665	broad.mit.edu	37	chr1	182026716	182026716	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatcacccgcaggtagtcGgtccccaagaggttgcatct	9	9	10	13	2	3	1	2	0	1	1	5	1	4	1	3	3	1	4	3	3	2	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:182026716G>A	ENST00000339948.3	-	2	637	c.430C>T	c.(430-432)Cga>Tga	p.R144*		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R144*(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCAGGTAGTCGGTCCCCAAGA	0.577													68	45					0	0	0	0	A	182026716	G	A	182026716	4	1	2	1	0	0	0	0	0	1	0	0	18158	1124	39	1	1280	1	ZNF648	1	182026716	Nonsense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	10723138	182026716	67223905	17	179											
CACNA1S	779	broad.mit.edu	37	chr1	201013550	201013550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaccgtgcgacagatctcgGgggctgcctcttcctcaatg	7	9	12	13	3	3	2	1	0	2	2	5	3	4	2	3	2	2	1	3	2	1	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:201013550G>T	ENST00000362061.3	-	39	4929	c.4703C>A	c.(4702-4704)cCc>cAc	p.P1568H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1549H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1568					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACAGATCTCGGGGGCTGCCTC	0.602													5	117					8.12818e-05	8.9583e-05	1	0	T	201013550	G	T	201013550	3	4	2	1	0	0	0	0	1	0	0	0	2572	1232	43	4	942	4	CACNA1S	1	201013550	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	18986834	201013550	48237071	18	180											
LMOD1	25802	broad.mit.edu	37	chr1	201868533	201868533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagccaagggagggggaggGggtggtggggcagctggagc	7	3	26	5	0	0	0	0	0	0	0	0	4	0	4	1	10	3	2	1	10	1	0			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:201868533G>A	ENST00000367288.4	-	2	1854	c.1608C>T	c.(1606-1608)ccC>ccT	p.P536P	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	536					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAGGGGGAGGGGGTGGTGGGG	0.577													3	38					0	0	0	0	A	201868533	G	A	201868533	2	1	2	1	0	0	0	0	0	0	0	1	8911	1219	43	4		4	LMOD1	1	201868533	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08	854983	201868533	47382088	19	181											
USH2A	7399	broad.mit.edu	37	chr1	216073542	216073542	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcatagcttaacgatgcaGaaggattggaaaataacctg	15	10	9	7	1	1	1	1	0	0	1	1	4	1	3	1	2	4	2	1	2	6	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:216073542G>C	ENST00000366943.2	-	40	7855	c.7469C>G	c.(7468-7470)tCt>tGt	p.S2490C	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.S2490C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2490	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAACGATGCAGAAGGATTGGA	0.358										HNSCC(13;0.011)			3	101					0	0	0	0	C	216073542	G	C	216073542	3	2	2	1	0	0	0	0	1	0	0	0	17132	942	33	2	8271	2	USH2A	1	216073542	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	14205009	216073542	33177079	20	182											
ESRRG	2104	broad.mit.edu	37	chr1	216850602	216850602	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatacagtttcctgacAggcccactacctcccaggat	10	10	6	15	0	2	1	2	1	0	0	4	2	4	2	4	2	2	1	4	2	2	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:216850602A>T	ENST00000391890.3	-	4	736	c.219T>A	c.(217-219)ccT>ccA	p.P73P	ESRRG_ENST00000361525.3_Silent_p.P73P|ESRRG_ENST00000361395.2_Silent_p.P73P|ESRRG_ENST00000493603.1_Silent_p.P73P|ESRRG_ENST00000359162.2_Silent_p.P73P|ESRRG_ENST00000360012.3_Silent_p.P73P|ESRRG_ENST00000487276.1_Silent_p.P73P|ESRRG_ENST00000366938.2_Silent_p.P73P|ESRRG_ENST00000366940.2_Silent_p.P73P|ESRRG_ENST00000463665.1_Silent_p.P73P|ESRRG_ENST00000408911.3_Silent_p.P96P|ESRRG_ENST00000366937.1_Silent_p.P101P|ESRRG_ENST00000493748.1_Silent_p.P73P	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	96					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GTTTCCTGACAGGCCCACTAC	0.517													18	221					0	0	0	0	T	216850602	A	T	216850602	2	4	2	1	0	0	0	0	0	0	0	1	5300	175	7	5		5	ESRRG	1	216850602	Silent	SNP	A	TCGA-BA-4075-01A-01D-1434-08	777060	216850602	32400019	21	183											
URB2	9816	broad.mit.edu	37	chr1	229772124	229772124	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctgctggcccttctcccGgacaccccaggcccagagcc	5	5	9	22	1	1	1	0	0	1	1	2	2	1	2	8	3	2	1	8	3	0	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:229772124G>C	ENST00000258243.2	+	4	1900	c.1764G>C	c.(1762-1764)ccG>ccC	p.P588P		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	588						nucleolus		p.P588P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCCTTCTCCCGGACACCCCAG	0.612													5	243					0	0	0	0	C	229772124	G	C	229772124	2	2	2	1	0	0	0	0	0	0	0	1	17121	1103	39	3		3	URB2	1	229772124	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08	12921522	229772124	19478497	22	184											
EXO1	9156	broad.mit.edu	37	chr1	242030178	242030178	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgacaaaacatgtcaaaAgtcagctaatgttagcagca	17	8	9	7	0	2	1	2	1	0	0	2	2	2	2	0	1	4	4	0	1	6	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:242030178A>C	ENST00000366548.3	+	11	1681	c.1088A>C	c.(1087-1089)aAg>aCg	p.K363T	EXO1_ENST00000518483.1_Missense_Mutation_p.K363T|EXO1_ENST00000348581.5_Missense_Mutation_p.K363T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	363	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACATGTCAAAAGTCAGCTAAT	0.378								Editing and processing nucleases					9	168					0	0	0	0	C	242030178	A	C	242030178	3	2	2	1	0	0	0	0	1	0	0	0	5337	72	3	5	1118	5	EXO1	1	242030178	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	12258054	242030178	7220443	23	185											
CEP170	9859	broad.mit.edu	37	chr1	243354341	243354341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaccttttcaagtacaCtggaacatcacttttaatgc	12	15	4	10	0	3	0	3	0	0	0	3	1	3	1	1	1	4	1	1	1	5	6			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:243354341C>A	ENST00000366542.1	-	8	1138	c.1087G>T	c.(1087-1089)Gtg>Ttg	p.V363L	CEP170_ENST00000366544.1_Missense_Mutation_p.V363L|CEP170_ENST00000366543.1_Missense_Mutation_p.V363L	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	363						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTCAAGTACACTGGAACATCA	0.363													3	23					0.00909568	0.00942312	1	0	A	243354341	C	A	243354341	3	1	2	1	0	0	0	0	1	0	0	0	3279	565	20	4	3749	4	CEP170	1	243354341	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	1324163	243354341	5896280	24	186											
OR6F1	343169	broad.mit.edu	37	chr1	247875881	247875881	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttgctcagaaagaagtaCatgggggtatgcaactgatg	13	9	14	5	0	1	3	1	1	0	2	1	3	1	3	0	3	4	5	0	3	5	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:247875881C>A	ENST00000302084.2	-	1	224	c.177G>T	c.(175-177)atG>atT	p.M59I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GAAAGAAGTACATGGGGGTAT	0.478													8	128					1.12685e-05	1.26893e-05	1	0	A	247875881	C	A	247875881	3	1	2	1	0	0	0	0	1	0	0	0	11272	478	17	4	753	4	OR6F1	1	247875881	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	4521540	247875881	1374740	25	187											
OR2M4	26245	broad.mit.edu	37	chr1	248402903	248402903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcccatgtccttcgagccGtcatccacatgggctctggg	6	11	10	14	2	2	0	1	0	1	0	6	1	5	0	4	2	1	1	4	2	0	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr1:248402903G>A	ENST00000306687.1	+	1	673	c.673G>A	c.(673-675)Gtc>Atc	p.V225I		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V225I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTTCGAGCCGTCATCCACAT	0.473													7	70					0	0	0	0	A	248402903	G	A	248402903	3	1	2	1	0	0	0	0	1	0	0	0	11083	1145	40	1	675	1	OR2M4	1	248402903	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	527022	248402903	847718	26	188											
OXER1	165140	broad.mit.edu	37	chr2	42991086	42991086	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtggcagggccctccagaGgacccccccacagtggtaaa	9	4	14	14	0	0	1	0	0	0	1	1	2	1	2	5	5	0	2	5	5	2	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:42991086G>A	ENST00000378661.2	-	1	315	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	78	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GCCCTCCAGAGGACCCCCCCA	0.627													7	53					0	0	0	0	A	42991086	G	A	42991086	2	1	2	1	0	0	0	0	0	0	0	1	11402	987	35	4		4	OXER1	2	42991086	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08		42991086	200208287	27	189											
ABCG8	64241	broad.mit.edu	37	chr2	44073294	44073294	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttctgatatctccccacagGtggacctggcctctcaggtc	6	11	9	15	0	3	1	1	1	3	0	6	2	3	2	4	4	0	0	4	4	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:44073294G>C	ENST00000272286.2	+	3	256	c.165_splice	c.e3-1	p.V56_splice		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	56	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCCCCACAGGTGGACCTGGC	0.552													3	111					0	0	0	0	C	44073294	G	C	44073294	5	2	2	1	0	0	0	0	0	0	1	0	72	1275	44	4	176	4	ABCG8	2	44073294	Splice_Site	SNP	G	TCGA-BA-4075-01A-01D-1434-08	1082208	44073294	199126079	28	190											
NAT8	9027	broad.mit.edu	37	chr2	73868718	73868718	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccacaacccactggcggTcgctctcctggtatttgcgg	6	9	11	15	3	1	0	0	0	1	0	3	0	1	0	3	4	3	2	3	4	2	2	rs74434404		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:73868718T>C	ENST00000272425.3	-	2	187	c.38A>G	c.(37-39)gAc>gGc	p.D13G		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	13					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						CCACTGGCGGTCGCTCTCCTG	0.587													11	161					0	0	0	0	C	73868718	T	C	73868718	3	2	2	1	0	0	0	0	1	0	0	0	10249	1667	58	5	649	5	NAT8	2	73868718	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	29795424	73868718	169330655	29	191											
ARID5A	10865	broad.mit.edu	37	chr2	97218002	97218002	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcacgcaccaccagtCacaacctatgcagcgcccca	10	4	8	19	2	1	0	1	0	0	0	1	0	1	0	6	1	3	3	6	1	2	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:97218002C>A	ENST00000454558.2	+	7	2710	c.1533C>A	c.(1531-1533)gtC>gtA	p.V511V	ARID5A_ENST00000357485.3_Silent_p.V579V			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	579					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CACCACCAGTCACAACCTATG	0.617													36	134					1.69901e-12	2.08552e-12	1	0	A	97218002	C	A	97218002	2	1	2	1	0	0	0	0	0	0	0	1	923	813	29	2		2	ARID5A	2	97218002	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	23349284	97218002	145981371	30	192											
LRP1B	53353	broad.mit.edu	37	chr2	141110541	141110542	+	Frame_Shift_Ins	INS	-	-	TT																															cttctgctatgcaggtgttaINStttctttcttgaaaattctg																								rs144480841		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:141110541_141110542insTT	ENST00000389484.3	-	76	12601_12602	c.11630_11631insAA	c.(11629-11631)aaafs	p.K3877fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3877	EGF-like 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.N3877S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGCAGGTGTTATTTCTTTCTTG	0.307										TSP Lung(27;0.18)			14	269	---	---	---	---					TT	141110542	-	TT	141110541	7	5	2	1	0	1	1	0	0	0	0	0	9019	446	16	0	2232	0	LRP1B	2	141110541	Frame_Shift_Ins	INS	-	TCGA-BA-4075-01A-01D-1434-08	43892539	141110541	102088832	31	193											
ZEB2	9839	broad.mit.edu	37	chr2	145157513	145157513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagcccaccattcataaagGgactagtgccactaaacccg	14	6	7	14	1	1	0	1	0	0	0	1	1	1	1	4	1	3	0	4	1	6	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:145157513G>T	ENST00000558170.2	-	8	2425	c.1241C>A	c.(1240-1242)cCc>cAc	p.P414H	ZEB2_ENST00000539609.3_Missense_Mutation_p.P390H|ZEB2_ENST00000409487.3_Missense_Mutation_p.P414H|ZEB2_ENST00000303660.4_Missense_Mutation_p.P414H	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	414						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATTCATAAAGGGACTAGTGCC	0.448													6	140					0.00198382	0.00208865	1	0	T	145157513	G	T	145157513	3	4	2	1	0	0	0	0	1	0	0	0	17719	1232	43	4	2415	4	ZEB2	2	145157513	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	4046972	145157513	98041860	32	194											
RIF1	55183	broad.mit.edu	37	chr2	152324992	152324992	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttcttctatctagcataAtaccacttcagccaaaggat	12	13	4	12	0	4	0	1	0	3	0	4	1	4	1	3	1	3	1	3	1	5	7			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:152324992A>G	ENST00000243326.4	+	31	7235	c.6752A>G	c.(6751-6753)aAt>aGt	p.N2251S	RIF1_ENST00000444746.2_Missense_Mutation_p.N2251S|RIF1_ENST00000430328.2_Intron|RIF1_ENST00000453091.2_Intron|RIF1_ENST00000428287.2_Intron			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2251	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATCTAGCATAATACCACTTCA	0.348													60	205					0	0	0	0	G	152324992	A	G	152324992	3	3	2	1	0	0	0	0	1	0	0	0	13442	101	4	5	6874	5	RIF1	2	152324992	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	7167479	152324992	90874381	33	195											
XIRP2	129446	broad.mit.edu	37	chr2	168100963	168100963	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagaagctgtaggtggcttTttgaaacaaggcccattgac	12	11	11	7	0	0	3	0	2	0	1	0	3	0	3	1	3	2	3	1	3	5	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:168100963T>G	ENST00000409195.1	+	9	3150	c.3061T>G	c.(3061-3063)Ttt>Gtt	p.F1021V	XIRP2_ENST00000409273.1_Missense_Mutation_p.F799V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.F1021V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	846					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						TAGGTGGCTTTTTGAAACAAG	0.368													6	93					0	0	0	0	G	168100963	T	G	168100963	3	3	2	1	0	0	0	0	1	0	0	0	17526	1841	64	5	3091	5	XIRP2	2	168100963	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	15775971	168100963	75098410	34	196											
XIRP2	129446	broad.mit.edu	37	chr2	168106123	168106123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatctgagattgatgttCaaacctttaccaaaaaacaa	18	10	5	8	0	2	2	1	2	1	1	2	3	2	2	2	0	4	2	2	0	7	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:168106123C>A	ENST00000409195.1	+	9	8310	c.8221C>A	c.(8221-8223)Caa>Aaa	p.Q2741K	XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2519K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q2741K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2566					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						GATTGATGTTCAAACCTTTAC	0.338													11	130					1.58986e-06	1.82201e-06	1	0	A	168106123	C	A	168106123	3	1	2	1	0	0	0	0	1	0	0	0	17526	827	29	2	8251	2	XIRP2	2	168106123	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	5160	168106123	75093250	35	197											
COL5A2	1290	broad.mit.edu	37	chr2	189917666	189917666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggatcctgctaaaccttGtggtccaggagaaccagcat	11	8	12	10	0	0	1	0	0	0	1	2	3	2	2	4	4	4	2	4	4	3	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:189917666G>T	ENST00000374866.3	-	39	2906	c.2632C>A	c.(2632-2634)Caa>Aaa	p.Q878K		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	878					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCTAAACCTTGTGGTCCAGGA	0.463													6	115					0.0215528	0.0221515	1	0	T	189917666	G	T	189917666	3	4	2	1	0	0	0	0	1	0	0	0	3727	1386	48	4	1931	4	COL5A2	2	189917666	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	21811543	189917666	53281707	36	198											
SLC19A3	80704	broad.mit.edu	37	chr2	228560672	228560672	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagcatagcacgcccagaTattggctgtgtaatgcatga	11	9	11	10	1	0	2	0	1	0	1	0	2	0	2	2	1	3	5	2	1	3	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr2:228560672T>C	ENST00000258403.3	-	4	1176	c.1105A>G	c.(1105-1107)Atc>Gtc	p.I369V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.I365V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	369					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CACGCCCAGATATTGGCTGTG	0.428													6	109					0	0	0	0	C	228560672	T	C	228560672	3	2	2	1	0	0	0	0	1	0	0	0	14518	1406	49	5	397	5	SLC19A3	2	228560672	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	38643006	228560672	14638701	37	199											
FBXL2	25827	broad.mit.edu	37	chr3	33427049	33427049	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgtcaccccaccgacAgcagtggcaggaagtggaca	10	4	12	15	2	1	0	1	0	0	0	2	3	2	2	4	3	1	3	4	3	1	0			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:33427049A>G	ENST00000484457.1	+	15	1312	c.1221A>G	c.(1219-1221)acA>acG	p.T407T	FBXL2_ENST00000446237.3_Silent_p.T148T|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000507198.1_Silent_p.T339T|FBXL2_ENST00000538892.1_Silent_p.T339T|FBXL2_ENST00000538181.1_Silent_p.T323T|FBXL2_ENST00000542085.1_Silent_p.T117T	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	407					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						CCCCACCGACAGCAGTGGCAG	0.532													11	220					0	0	0	0	G	33427049	A	G	33427049	2	3	2	1	0	0	0	0	0	0	0	1	5761	175	7	5		5	FBXL2	3	33427049	Silent	SNP	A	TCGA-BA-4075-01A-01D-1434-08		33427049	164595381	38	200											
LARS2	23395	broad.mit.edu	37	chr3	45500356	45500356	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtacctcagacaatggtttaTtaagacaaccgcttatgcaa	14	11	7	9	1	1	2	1	0	0	2	1	2	1	2	2	1	3	4	2	1	7	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:45500356T>G	ENST00000415258.1	+	7	869	c.728T>G	c.(727-729)aTt>aGt	p.I243S	LARS2_ENST00000265537.3_Missense_Mutation_p.I243S|LARS2_ENST00000414984.1_Missense_Mutation_p.I200S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	243					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CAATGGTTTATTAAGACAACC	0.498													24	45					0	0	0	0	G	45500356	T	G	45500356	3	3	2	1	0	0	0	0	1	0	0	0	8688	1493	52	5	750	5	LARS2	3	45500356	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	12073307	45500356	152522074	39	201											
GPR15	2838	broad.mit.edu	37	chr3	98251043	98251043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggggaaccttgttctcatgGgagcgttgcatttcaaaccc	8	12	11	10	1	2	0	2	0	1	0	3	2	2	2	2	3	4	3	2	3	2	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:98251043G>A	ENST00000284311.3	+	1	301	c.166G>A	c.(166-168)Gga>Aga	p.G56R		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	56						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TGTTCTCATGGGAGCGTTGCA	0.498													9	111					0	0	0	0	A	98251043	G	A	98251043	3	1	2	1	0	0	0	0	1	0	0	0	6704	1233	43	4	168	4	GPR15	3	98251043	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	52750687	98251043	99771387	40	202											
HGD	3081	broad.mit.edu	37	chr3	120365175	120365175	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctccaagatgtagcccctGgtctcctcaaagacatctat	11	10	6	14	0	3	2	1	0	2	2	5	2	4	2	5	1	1	1	5	1	4	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:120365175G>A	ENST00000283871.5	-	9	1047	c.588C>T	c.(586-588)acC>acT	p.T196T		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	196					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TGTAGCCCCTGGTCTCCTCAA	0.463													94	65					0	0	0	0	A	120365175	G	A	120365175	2	1	2	1	0	0	0	0	0	0	0	1	7134	1335	47	4		4	HGD	3	120365175	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08	22114132	120365175	77657255	41	203											
ATR	545	broad.mit.edu	37	chr3	142275364	142275364	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttctccactcaaggaataTtcttcttggaaacagagtca	12	13	7	9	0	5	1	2	0	3	1	6	3	5	3	1	2	1	1	1	2	4	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:142275364T>G	ENST00000350721.4	-	9	2060	c.1939A>C	c.(1939-1941)Ata>Cta	p.I647L	ATR_ENST00000383101.3_Missense_Mutation_p.I583L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	647					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCAAGGAATATTCTTCTTGGA	0.383								Other conserved DNA damage response genes					107	184					0	0	0	0	G	142275364	T	G	142275364	3	3	2	1	0	0	0	0	1	0	0	0	1208	1493	52	5	6151	5	ATR	3	142275364	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	21910189	142275364	55747066	42	204											
SI	6476	broad.mit.edu	37	chr3	164772993	164772993	+	Nonsense_Mutation	SNP	C	C	A																															gctacttacaatccaaagtcCatcatattgcacttcttgat																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:164772993C>A	ENST00000264382.3	-	13	1563	c.1501G>T	c.(1501-1503)Gga>Tga	p.G501*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	501	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATCCAAAGTCCATCATATTGC	0.328										HNSCC(35;0.089)			8	203					0.27861	0.280779	1	0	A	164772993	C	A	164772993	4	1	2	1	0	0	0	0	0	1	0	0	14385	603	21	4	4126	4	SI	3	164772993	Nonsense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	22497629	164772993	33249437	43	205	3	2									
SI	6476	broad.mit.edu	37	chr3	164772994	164772994	+	Missense_Mutation	SNP	A	A	T																															ctacttacaatccaaagtccAtcatattgcacttcttgatg																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:164772994A>T	ENST00000264382.3	-	13	1562	c.1500T>A	c.(1498-1500)gaT>gaA	p.D500E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	500	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCAAAGTCCATCATATTGCA	0.328										HNSCC(35;0.089)			8	207					0	0	0	0	T	164772994	A	T	164772994	3	4	2	1	0	0	0	0	1	0	0	0	14385	214	8	5	4127	5	SI	3	164772994	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	1	164772994	33249436	44	206	3	2									
SLC7A14	57709	broad.mit.edu	37	chr3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacccacaaagcaccagaccGcaaaccggatccatgtgatg	14	5	8	14	2	0	2	0	1	0	1	1	3	1	3	5	1	3	2	5	1	3	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:170198095G>A	ENST00000231706.4	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	659						integral to membrane	amino acid transmembrane transporter activity	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498													5	276					0	0	0	0	A	170198095	G	A	170198095	3	1	2	1	0	0	0	0	1	0	0	0	14784	1087	38	1	347	1	SLC7A14	3	170198095	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	5425101	170198095	27824335	45	207											
RTP2	344892	broad.mit.edu	37	chr3	187416695	187416695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacagctgcttgaagacgCgcatgcgcaccgagcccgcc	9	4	12	16	5	0	2	0	1	0	1	0	3	0	2	3	0	5	5	3	0	1	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr3:187416695C>T	ENST00000358241.1	-	2	697	c.269G>A	c.(268-270)cGc>cAc	p.R90H		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	90					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CTTGAAGACGCGCATGCGCAC	0.647													21	43					0	0	0	0	T	187416695	C	T	187416695	3	4	2	1	0	0	0	0	1	0	0	0	13819	768	27	1	412	1	RTP2	3	187416695	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	17218600	187416695	10605735	46	208											
WDR1	9948	broad.mit.edu	37	chr4	10083023	10083023	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtatcccccggggccgacGgctacgcactttggctgaac	6	7	13	15	5	0	1	0	1	0	0	1	2	1	1	3	4	2	4	3	4	3	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:10083023G>A	ENST00000382452.2	-	11	1524	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	WDR1_ENST00000502702.1_Silent_p.A274A|WDR1_ENST00000499869.2_Silent_p.A414A|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Silent_p.A274A	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	414					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CGGGGCCGACGGCTACGCACT	0.572													3	70					0	0	0	0	A	10083023	G	A	10083023	2	1	2	1	0	0	0	0	0	0	0	1	17368	1103	39	1		1	WDR1	4	10083023	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08		10083023	181071253	47	209											
BST1	683	broad.mit.edu	37	chr4	15709251	15709251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagatttcttgagctggtgtCgacagaaaaatgactctggt	11	12	11	7	1	2	4	0	2	2	2	3	5	2	4	0	2	1	1	0	2	2	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:15709251C>G	ENST00000382346.3	+	4	527	c.478C>G	c.(478-480)Cga>Gga	p.R160G	BST1_ENST00000265016.4_Missense_Mutation_p.R145G			Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	145					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						GAGCTGGTGTCGACAGAAAAA	0.438													54	115					0	0	0	0	G	15709251	C	G	15709251	3	3	2	1	0	0	0	0	1	0	0	0	1541	876	31	3	443	3	BST1	4	15709251	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	5626228	15709251	175445025	48	210											
YIPF7	285525	broad.mit.edu	37	chr4	44631497	44631497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcattcataatgctgccatCtactggcttcattgggttta	8	17	7	9	0	4	0	3	0	1	0	4	0	4	0	1	2	3	3	1	2	3	8			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:44631497C>T	ENST00000332990.5	-	4	437	c.421G>A	c.(421-423)Gat>Aat	p.D141N		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	141						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ATGCTGCCATCTACTGGCTTC	0.403													3	9					0	0	0	0	T	44631497	C	T	44631497	3	4	2	1	0	0	0	0	1	0	0	0	17579	913	32	2	433	2	YIPF7	4	44631497	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	28922246	44631497	146522779	49	211											
LNX1	84708	broad.mit.edu	37	chr4	54424120	54424120	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaggcaagaccagcaacaGaagcgccttcattctccgag	13	5	9	14	2	2	2	1	0	1	2	3	3	2	2	4	1	3	2	4	1	4	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:54424120G>A	ENST00000306888.2	-	1	264	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	LNX1_ENST00000263925.7_Intron|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	101						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCAGCAACAGAAGCGCCTTC	0.537													17	43					0	0	0	0	A	54424120	G	A	54424120	2	1	2	1	0	0	0	0	0	0	0	1	8920	933	33	2		2	LNX1	4	54424120	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08	9792623	54424120	136730156	50	212											
UGT2B4	7363	broad.mit.edu	37	chr4	70360946	70360946	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcacatagatcatattttTtaccctctctatgaaagtca	14	14	4	9	0	3	2	2	1	1	1	4	2	3	2	1	0	2	1	1	0	6	6			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:70360946T>C	ENST00000305107.6	-	1	680	c.634A>G	c.(634-636)Aaa>Gaa	p.K212E	UGT2B4_ENST00000381096.3_Missense_Mutation_p.K76E|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.K212E	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	212					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATCATATTTTTTACCCTCTCT	0.363													19	52					0	0	0	0	C	70360946	T	C	70360946	3	2	2	1	0	0	0	0	1	0	0	0	17057	1850	64	5	976	5	UGT2B4	4	70360946	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	15936826	70360946	120793330	51	213											
GK2	2712	broad.mit.edu	37	chr4	80328069	80328069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcataagaactttgttgttgGtcattcctccatctacctgc	8	15	7	11	0	2	1	1	0	1	1	4	1	4	1	3	1	3	3	3	1	3	6			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:80328069G>T	ENST00000358842.3	-	1	1303	c.1286C>A	c.(1285-1287)aCc>aAc	p.T429N		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	429					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TTTGTTGTTGGTCATTCCTCC	0.428													45	103					1.76056e-25	2.19223e-25	1	0	T	80328069	G	T	80328069	3	4	2	1	0	0	0	0	1	0	0	0	6472	1261	44	4	379	4	GK2	4	80328069	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	9967123	80328069	110826207	52	214											
EGF	1950	broad.mit.edu	37	chr4	110890205	110890205	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgagaaaggcttattgagGaaggagtagatgtgccagaa	15	7	15	4	1	0	4	0	1	0	3	0	7	0	6	1	3	2	2	1	3	5	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:110890205G>T	ENST00000265171.5	+	11	2099	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*	EGF_ENST00000503392.1_Nonsense_Mutation_p.E552*|EGF_ENST00000509793.1_Nonsense_Mutation_p.E510*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	552					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GCTTATTGAGGAAGGAGTAGA	0.453													7	105					0.00198382	0.00208865	1	0	T	110890205	G	T	110890205	4	4	2	1	0	0	0	0	0	1	0	0	4998	1175	41	2	1696	2	EGF	4	110890205	Nonsense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	30562136	110890205	80264071	53	215											
FAT1	2195	broad.mit.edu	37	chr4	187542087	187542088	+	Frame_Shift_Ins	INS	-	-	A																															ggtaacaaaagagatgcttcINSatataatggcttggcaaaca																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr4:187542087_187542088insA	ENST00000441802.2	-	10	5861_5862	c.5652_5653insT	c.(5650-5655)taaagcfs	p.*S1884fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1884	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGAGATGCTTCATATAATGGCT	0.396										HNSCC(5;0.00058)			16	56	---	---	---	---					A	187542088	-	A	187542087	7	5	2	1	0	1	1	0	0	0	0	0	5734	835	29	0	8185	0	FAT1	4	187542087	Frame_Shift_Ins	INS	-	TCGA-BA-4075-01A-01D-1434-08	76651882	187542087	3612189	54	216											
ZDHHC11	79844	broad.mit.edu	37	chr5	825360	825360	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcagcagggagctcttggcTttgactctggtgggacagaa	9	10	14	8	0	3	2	1	1	2	1	3	4	3	4	0	4	2	3	0	4	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:825360T>C	ENST00000283441.8	-	8	1325	c.942A>G	c.(940-942)aaA>aaG	p.K314K	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.K314K	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	314						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGCTCTTGGCTTTGACTCTGG	0.552													13	186					0	0	0	0	C	825360	T	C	825360	2	2	2	1	0	0	0	0	0	0	0	1	17696	1606	56	5		5	ZDHHC11	5	825360	Silent	SNP	T	TCGA-BA-4075-01A-01D-1434-08		825360	180089900	55	217											
SLC6A18	348932	broad.mit.edu	37	chr5	1246007	1246007	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctctacccgggctgggcGcgcgccgcctgtgtgctgct	3	8	15	15	5	1	0	0	0	1	0	1	0	1	0	3	2	4	4	3	2	2	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:1246007G>A	ENST00000324642.3	+	12	1824	c.1701G>A	c.(1699-1701)gcG>gcA	p.A567A		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	567					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)			CGGGCTGGGCGCGCGCCGCCT	0.716													4	60					0	0	0	0	A	1246007	G	A	1246007	2	1	2	1	0	0	0	0	0	0	0	1	14769	1074	38	1		1	SLC6A18	5	1246007	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08	420647	1246007	179669253	56	218											
CLPTM1L	81037	broad.mit.edu	37	chr5	1321749	1321749	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaccggctgtcacactcaCcttgtaggtgaaggccttcc	7	10	9	15	1	3	1	3	1	0	0	4	1	4	1	4	3	0	2	4	3	2	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:1321749C>A	ENST00000320895.5	-	15	1674		c.e15+1		CLPTM1L_ENST00000506641.1_Splice_Site|CLPTM1L_ENST00000507807.1_Splice_Site|CLPTM1L_ENST00000320927.6_Splice_Site	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like						apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GTCACACTCACCTTGTAGGTG	0.592													5	129					5.9392e-07	6.89799e-07	1	0	A	1321749	C	A	1321749	5	1	2	1	0	0	0	0	0	0	1	0	3585	521	18	4	211	4	CLPTM1L	5	1321749	Splice_Site	SNP	C	TCGA-BA-4075-01A-01D-1434-08	75742	1321749	179593511	57	219											
LPCAT1	79888	broad.mit.edu	37	chr5	1488528	1488528	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgaaggtaattaggcaGgtcctgtttgtacaagttcc	9	14	12	6	0	0	1	0	1	0	0	2	1	2	1	2	4	1	6	2	4	5	6			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:1488528G>A	ENST00000283415.3	-	5	777	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	215					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TAATTAGGCAGGTCCTGTTTG	0.303													7	201					0	0	0	0	A	1488528	G	A	1488528	2	1	2	1	0	0	0	0	0	0	0	1	8974	987	35	4		4	LPCAT1	5	1488528	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08	166779	1488528	179426732	58	220											
TARS	6897	broad.mit.edu	37	chr5	33455798	33455798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttaagaaagaaactttactgGcaatgtttaaggtaaattga	17	13	8	3	0	0	3	0	1	0	2	0	3	0	3	0	2	2	3	0	2	8	7			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:33455798G>A	ENST00000265112.3	+	6	993	c.682G>A	c.(682-684)Gca>Aca	p.A228T	TARS_ENST00000541634.1_Missense_Mutation_p.A124T|TARS_ENST00000455217.2_Missense_Mutation_p.A261T|TARS_ENST00000414361.2_Missense_Mutation_p.A107T|TARS_ENST00000502553.1_Missense_Mutation_p.A228T	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	228					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.A228S(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AACTTTACTGGCAATGTTTAA	0.373													16	195					0	0	0	0	A	33455798	G	A	33455798	3	1	2	1	0	0	0	0	1	0	0	0	15650	1203	42	4	704	4	TARS	5	33455798	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	31967270	33455798	147459462	59	221											
SEPP1	6414	broad.mit.edu	37	chr5	42801329	42801329	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaaggtgctgatgtccAtgattgtgatgatgctcatg	8	13	12	8	0	1	4	1	4	0	0	2	4	2	4	2	1	3	2	2	1	1	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:42801329A>T	ENST00000514985.1	-	5	895	c.639T>A	c.(637-639)caT>caA	p.H213Q	SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.H213Q|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000507920.1_Missense_Mutation_p.M103K|SEPP1_ENST00000511224.1_Missense_Mutation_p.H213Q	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	213					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GCTGATGTCCATGATTGTGAT	0.463													12	306					0	0	0	0	T	42801329	A	T	42801329	3	4	2	1	0	0	0	0	1	0	0	0	14144	214	8	5	510	5	SEPP1	5	42801329	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	9345531	42801329	138113931	60	222											
ERBB2IP	55914	broad.mit.edu	37	chr5	65349867	65349867	+	Frame_Shift_Del	DEL	A	A	-																															atcacatctgctgttgatggAaaaaatatagtcaggagcaa																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:65349867delA	ENST00000284037.5	+	21	3110	c.2721delA	c.(2719-2721)ggfs	p.G907fs	ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	907					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTGTTGATGGAAAAAATATAG	0.378													7	2178	---	---	---	---					-	65349867	A	-	65349867	7	5	2	1	0	1	0	1	0	0	0	0	5245	233	9	0	2795	0	ERBB2IP	5	65349867	Frame_Shift_Del	DEL	A	TCGA-BA-4075-01A-01D-1434-08	22548538	65349867	115565393	61	223											
TNPO1	3842	broad.mit.edu	37	chr5	72187641	72187641	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcattgtaaataggaatAtattcagatgctaatgcctc	14	14	6	7	0	3	1	3	0	0	1	4	2	3	2	1	1	2	2	1	1	7	7			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:72187641A>G	ENST00000337273.5	+	15	2132	c.1706A>G	c.(1705-1707)tAt>tGt	p.Y569C	TNPO1_ENST00000523768.1_Missense_Mutation_p.Y519C|TNPO1_ENST00000454282.1_Missense_Mutation_p.Y519C|TNPO1_ENST00000506351.2_Missense_Mutation_p.Y561C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	569					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAATAGGAATATATTCAGATG	0.328													48	114					0	0	0	0	G	72187641	A	G	72187641	3	3	2	1	0	0	0	0	1	0	0	0	16429	449	16	5	1764	5	TNPO1	5	72187641	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	6837774	72187641	108727619	62	224											
SIL1	64374	broad.mit.edu	37	chr5	138356974	138356974	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaaagcaggtcctgcgcaTtgtccatctgcaacagagcc	11	7	11	12	1	1	1	0	0	1	1	3	2	3	2	3	2	5	3	3	2	2	1	rs150156151		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:138356974T>C	ENST00000394817.2	-	7	792	c.653A>G	c.(652-654)aAt>aGt	p.N218S	CTB-46B19.2_ENST00000510110.1_RNA|CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000509534.1_Missense_Mutation_p.N225S|SIL1_ENST00000265195.5_Missense_Mutation_p.N218S	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	218	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTCCTGCGCATTGTCCATCTG	0.502									Marinesco-Sjgren syndrome				20	35					0	0	0	0	C	138356974	T	C	138356974	3	2	2	1	0	0	0	0	1	0	0	0	14409	1493	52	5	748	5	SIL1	5	138356974	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	66169333	138356974	42558286	63	225											
PCDHA11	56138	broad.mit.edu	37	chr5	140250178	140250178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctactcgctggtggagcggcGgttgggcgaccgcgcgctgt	3	8	18	12	7	0	0	0	0	0	0	1	2	0	1	1	5	2	3	1	5	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:140250178G>A	ENST00000398640.2	+	1	1490	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1												p.R497Q(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGCGGCGGTTGGGCGAC	0.672													16	119					0	0	0	0	A	140250178	G	A	140250178	3	1	2	1	0	0	0	0	1	0	0	0	11592	1116	39	1	1492	1	PCDHA11	5	140250178	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	1893204	140250178	40665082	64	226											
ARAP3	64411	broad.mit.edu	37	chr5	141041799	141041799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgagcgccccctttccGgtatacaccttccagccgga	7	7	10	17	4	0	0	0	0	0	0	2	2	2	1	6	3	3	2	6	3	2	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:141041799G>A	ENST00000239440.4	-	20	2889	c.2824C>T	c.(2824-2826)Cgg>Tgg	p.R942W	ARAP3_ENST00000513878.1_Missense_Mutation_p.R604W|ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	942	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCCCTTTCCGGTATACACCT	0.657													38	88					0	0	0	0	A	141041799	G	A	141041799	3	1	2	1	0	0	0	0	1	0	0	0	842	1115	39	1	1866	1	ARAP3	5	141041799	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	791621	141041799	39873461	65	227											
RNF14	9604	broad.mit.edu	37	chr5	141358230	141358230	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttcctgtgcagtatctgTttctgtgagaagctgggtag	6	16	13	6	0	2	1	0	1	2	1	3	2	3	1	1	1	2	6	1	1	3	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:141358230T>C	ENST00000394520.2	+	5	978	c.669T>C	c.(667-669)tgT>tgC	p.C223C	RNF14_ENST00000394514.2_Silent_p.C97C|RNF14_ENST00000394519.1_Silent_p.C223C|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000356143.1_Silent_p.C223C|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000347642.3_Silent_p.C223C|RNF14_ENST00000394515.3_Intron	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	223					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GCAGTATCTGTTTCTGTGAGA	0.413													50	93					0	0	0	0	C	141358230	T	C	141358230	2	2	2	1	0	0	0	0	0	0	0	1	13528	1731	60	5		5	RNF14	5	141358230	Silent	SNP	T	TCGA-BA-4075-01A-01D-1434-08	316431	141358230	39557030	66	228											
FAM153B	202134	broad.mit.edu	37	chr5	175540969	175540989	+	In_Frame_Del	DEL	AAGCCCAAGAAGAAAACCAGG	AAGCCCAAGAAGAAAACCAGG	-																															gtcccatcaggaaaaccagaAagcccaagaagaaaaccagg																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr5:175540969_175540989delAAGCCCAAGAAGAAAACCAGG	ENST00000253490.4	+	21	1138_1158	c.1081_1101delAAGCCCAAGAAGAAAACCAGG	c.(1081-1101)del	p.KPKKKTR361del	FAM153B_ENST00000510151.1_In_Frame_Del_p.KPKKKTR284del|FAM153B_ENST00000515817.1_In_Frame_Del_p.KPKKKTR284del|FAM153B_ENST00000512862.1_In_Frame_Del_p.KPKKKTR118del			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	361										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GAAAACCAGAAAGCCCAAGAAGAAAACCAGGAAGCCCAGCA	0.471													4	7	---	---	---	---					-	175540989	AAGCCCAAGAAGAAAACCAGG	-	175540969	7	5	2	1	0	1	0	1	0	0	0	0	5502	15	1	0	1163	0	FAM153B	5	175540969	In_Frame_Del	DEL	AAGCCCAAGAAGAAAACCAGG	TCGA-BA-4075-01A-01D-1434-08	34182739	175540969	5374291	67	229											
GCM2	9247	broad.mit.edu	37	chr6	10874289	10874289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtctgagtaactgactgcgGagcccagcccagacagacac	11	6	11	13	1	1	4	0	2	1	2	1	5	1	5	2	1	4	1	2	1	1	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:10874289G>A	ENST00000379491.4	-	5	1607	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	487					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				ACTGACTGCGGAGCCCAGCCC	0.522													10	128					0	0	0	0	A	10874289	G	A	10874289	3	1	2	1	0	0	0	0	1	0	0	0	6347	1174	41	2	64	2	GCM2	6	10874289	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08		10874289	160240778	68	230											
BTN3A2	11118	broad.mit.edu	37	chr6	26370583	26370583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttcacgtcgaagtgaaggGttatgaggatggagggatcc	10	10	15	6	2	2	2	1	2	1	0	4	6	3	5	1	4	0	1	1	4	3	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:26370583G>T	ENST00000356386.2	+	5	655	c.467G>T	c.(466-468)gGt>gTt	p.G156V	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000527422.1_Missense_Mutation_p.G156V|BTN3A2_ENST00000508906.2_Missense_Mutation_p.G114V|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G156V|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G133V|BTN3A2_ENST00000377708.2_Missense_Mutation_p.G156V	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	156						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GAAGTGAAGGGTTATGAGGAT	0.517													7	146					2.7689e-08	3.245e-08	1	0	T	26370583	G	T	26370583	3	4	2	1	0	0	0	0	1	0	0	0	1572	1261	44	4	477	4	BTN3A2	6	26370583	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	15496294	26370583	144744484	69	231											
HLA-DQB1	3119	broad.mit.edu	37	chr6	32632675	32632675	+	Frame_Shift_Del	DEL	C	C	-																															aggacttccttctggctgttCcagtactcggcatcaggccg																								rs41556424		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:32632675delC	ENST00000399084.1	-	3	457	c.279delG	c.(277-279)tgfs	p.W93fs	HLA-DQB1_ENST00000434651.2_Frame_Shift_Del_p.W93fs|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000399079.3_Frame_Shift_Del_p.W93fs|HLA-DQB1_ENST00000374943.4_Frame_Shift_Del_p.W93fs			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	93	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTGGCTGTTCCAGTACTCGG	0.637									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				8	206	---	---	---	---					-	32632675	C	-	32632675	7	5	2	1	0	1	0	1	0	0	0	0	7256	856	30	0	522	0	HLA-DQB1	6	32632675	Frame_Shift_Del	DEL	C	TCGA-BA-4075-01A-01D-1434-08	6262092	32632675	138482392	70	232											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32713716	32713716	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcacagaaggtgtttctgaGaccagcttcctctccaagag	10	10	10	11	0	3	3	1	1	2	3	5	4	4	3	3	1	1	2	3	1	2	2	rs35633399		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:32713716G>C	ENST00000374940.3	+	3	582	c.480G>C	c.(478-480)gaG>gaC	p.E160D		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	160	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTGTTTCTGAGACCAGCTTCC	0.493													8	376					0	0	0	0	C	32713716	G	C	32713716	3	2	2	1	0	0	0	0	1	0	0	0	7255	933	33	2	490	2	HLA-DQA2	6	32713716	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	81041	32713716	138401351	71	233											
SASH1	23328	broad.mit.edu	37	chr6	148865297	148865297	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcattgctactgacccaaagCaagagattttctgaacctca	13	10	7	11	0	2	3	1	2	1	1	2	4	2	3	2	0	4	3	2	0	4	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:148865297C>T	ENST00000367467.3	+	18	3166	c.2691C>T	c.(2689-2691)agC>agT	p.S897S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	897							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGACCCAAAGCAAGAGATTTT	0.537													9	271					0	0	0	0	T	148865297	C	T	148865297	2	4	2	1	0	0	0	0	0	0	0	1	13934	709	25	4		4	SASH1	6	148865297	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	116151581	148865297	22249770	72	234											
SYNE1	23345	broad.mit.edu	37	chr6	152523002	152523002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctcttcatggtgatccGggagagactgcgaaagcttc	9	9	14	9	2	2	2	1	1	1	1	4	6	3	4	1	3	3	2	1	3	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr6:152523002G>A	ENST00000367255.5	-	127	23703	c.23102C>T	c.(23101-23103)cCg>cTg	p.P7701L	SYNE1_ENST00000356820.4_Missense_Mutation_p.P2225L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7701L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7630L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P7313L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7630L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7701					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGGTGATCCGGGAGAGACTG	0.433										HNSCC(10;0.0054)			12	99					0	0	0	0	A	152523002	G	A	152523002	3	1	2	1	0	0	0	0	1	0	0	0	15536	1116	39	1	3444	1	SYNE1	6	152523002	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	3657705	152523002	18592065	73	235											
CARD11	84433	broad.mit.edu	37	chr7	2956977	2956977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagagacgggggctgacccGggggtcgcttgttgaaagcg	7	6	19	9	5	0	3	0	2	0	1	1	5	0	3	1	4	1	3	1	4	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:2956977G>A	ENST00000396946.4	-	20	3053	c.2650C>T	c.(2650-2652)Cgg>Tgg	p.R884W		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	884					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGGCTGACCCGGGGGTCGCTT	0.547			Mis		DLBCL								11	63					0	0	0	0	A	2956977	G	A	2956977	3	1	2	1	0	0	0	0	1	0	0	0	2670	1115	39	1	838	1	CARD11	7	2956977	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08		2956977	156181686	74	236											
C1GALT1	56913	broad.mit.edu	37	chr7	7278537	7278537	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggtactggaattacaactAttatcctcctgtagaggtaa	12	14	8	7	0	0	1	0	0	0	1	2	2	2	2	2	3	3	3	2	3	8	7			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:7278537A>G	ENST00000436587.2	+	3	1095	c.872A>G	c.(871-873)tAt>tGt	p.Y291C	C1GALT1_ENST00000402468.3_Missense_Mutation_p.Y291C|C1GALT1_ENST00000223122.2_Missense_Mutation_p.Y291C	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	291					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AATTACAACTATTATCCTCCT	0.313													107	50					0	0	0	0	G	7278537	A	G	7278537	3	3	2	1	0	0	0	0	1	0	0	0	1971	449	16	5	878	5	C1GALT1	7	7278537	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	4321560	7278537	151860126	75	237											
NOD1	10392	broad.mit.edu	37	chr7	30492295	30492295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcctgcagacacagcctGtcactttccttgaagcagct	9	10	9	13	0	1	2	1	1	0	1	3	2	3	2	3	1	4	3	3	1	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:30492295G>A	ENST00000423334.2	-	7	1043	c.602C>T	c.(601-603)aCa>aTa	p.T201I	NOD1_ENST00000222823.4_Silent_p.D246D			Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	201	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GACACAGCCTGTCACTTTCCT	0.617													12	333					0	0	0	0	A	30492295	G	A	30492295	3	1	2	1	0	0	0	0	1	0	0	0	10586	1368	48	4	2159	4	NOD1	7	30492295	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	23213758	30492295	128646368	76	238											
SFRP4	6424	broad.mit.edu	37	chr7	37955852	37955852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttggcacaccgacttgcaCggcttgatagggtcgtgcag	7	9	14	11	4	0	1	0	1	0	0	1	2	0	1	1	3	2	5	1	3	1	4	rs143563677		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:37955852C>T	ENST00000436072.2	-	1	665	c.288G>A	c.(286-288)ccG>ccA	p.P96P	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	96	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCGACTTGCACGGCTTGATAG	0.632													10	90					0	0	0	0	T	37955852	C	T	37955852	2	4	2	1	0	0	0	0	0	0	0	1	14250	523	19	1		1	SFRP4	7	37955852	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	7463557	37955852	121182811	77	239											
C7orf10	79783	broad.mit.edu	37	chr7	40498705	40498705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttttcttttagatcttGgatttgcctgagttgattga	7	22	8	4	0	2	4	0	3	2	1	2	5	2	5	1	1	1	1	1	1	1	9			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:40498705G>T	ENST00000309930.5	+	11	939	c.915G>T	c.(913-915)ttG>ttT	p.L305F	C7orf10_ENST00000401647.2_Missense_Mutation_p.L257F|C7orf10_ENST00000335693.4_Missense_Mutation_p.L305F	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	305							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTTAGATCTTGGATTTGCCTG	0.348													35	99					9.17885e-22	1.13747e-21	1	0	T	40498705	G	T	40498705	3	4	2	1	0	0	0	0	1	0	0	0	2399	1339	47	4	846	4	C7orf10	7	40498705	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	2542853	40498705	118639958	78	240											
NPC1L1	29881	broad.mit.edu	37	chr7	44579253	44579253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaggtcgccacgtcgtcaCcttgggactcattgcaacgt	8	9	11	13	4	2	0	2	0	0	0	4	1	2	1	2	2	3	2	2	2	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:44579253C>A	ENST00000289547.4	-	2	798	c.743G>T	c.(742-744)gGt>gTt	p.G248V	NPC1L1_ENST00000423141.1_Missense_Mutation_p.G248V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G248V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.G248V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	248					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CACGTCGTCACCTTGGGACTC	0.627													7	194					0.248553	0.251465	1	0	A	44579253	C	A	44579253	3	1	2	1	0	0	0	0	1	0	0	0	10641	507	18	4	3412	4	NPC1L1	7	44579253	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	4080548	44579253	114559410	79	241											
PKD1L1	168507	broad.mit.edu	37	chr7	47933651	47933651	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaccacactgccttcaatCtgaacctgcaggggcaagga	12	7	9	13	0	2	1	1	1	1	0	2	2	2	2	3	3	4	2	3	3	4	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:47933651C>A	ENST00000289672.2	-	15	2327	c.2277G>T	c.(2275-2277)caG>caT	p.Q759H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	759	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCTTCAATCTGAACCTGCA	0.547													23	183					2.89027e-11	3.53103e-11	1	0	A	47933651	C	A	47933651	3	1	2	1	0	0	0	0	1	0	0	0	12036	912	32	2	6444	2	PKD1L1	7	47933651	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	3354398	47933651	111205012	80	242											
EGFR	1956	broad.mit.edu	37	chr7	55231431	55231431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcctctcagtgagcCaagggagtttgtggagaact	8	12	11	10	0	2	2	1	1	2	1	5	4	4	3	3	2	2	1	3	2	2	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:55231431C>A	ENST00000275493.2	+	14	1814	c.1637C>A	c.(1636-1638)cCa>cAa	p.P546Q	EGFR_ENST00000455089.1_Missense_Mutation_p.P501Q|EGFR_ENST00000442591.1_Missense_Mutation_p.P546Q|EGFR_ENST00000342916.3_Missense_Mutation_p.P546Q|EGFR_ENST00000344576.2_Missense_Mutation_p.P546Q|EGFR_ENST00000454757.2_Missense_Mutation_p.P493Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	546					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTCAGTGAGCCAAGGGAGTTT	0.517		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			13	310					4.36969e-10	5.28855e-10	1	0	A	55231431	C	A	55231431	3	1	2	1	0	0	0	0	1	0	0	0	5003	594	21	4	1702	4	EGFR	7	55231431	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	7297780	55231431	103907232	81	243											
EGFR	1956	broad.mit.edu	37	chr7	55238145	55238145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatggatcccttctcttctgCcgtcagagtttcagctgggt	5	14	11	11	1	4	1	2	0	2	1	6	3	5	2	2	2	2	2	2	2	0	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:55238145C>T	ENST00000344576.2	+	16	2271	c.2026C>T	c.(2026-2028)Ccg>Tcg	p.P676S	EGFR_ENST00000455089.1_Intron|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000275493.2_Intron	NM_201284.1	NP_958441.1	P00533	EGFR_HUMAN	epidermal growth factor receptor	0					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TTCTCTTCTGCCGTCAGAGTT	0.562		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			65	176					0	0	0	0	T	55238145	C	T	55238145	3	4	2	1	0	0	0	0	1	0	0	0	5003	739	26	4	2110	4	EGFR	7	55238145	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	6714	55238145	103900518	82	244											
PCLO	27445	broad.mit.edu	37	chr7	82584021	82584021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcaccaatgggggcctggGttgggctagatccaggtgtt	6	10	15	10	0	1	1	1	0	0	1	2	1	2	1	4	5	0	3	4	5	2	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:82584021G>T	ENST00000423517.2	-	5	6585	c.6248C>A	c.(6247-6249)aCc>aAc	p.T2083N	PCLO_ENST00000333891.8_Missense_Mutation_p.T2083N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2014					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGGCCTGGGTTGGGCTAGA	0.463													6	117					0.00116845	0.00125053	1	0	T	82584021	G	T	82584021	3	4	2	1	0	0	0	0	1	0	0	0	11654	1261	44	4	9281	4	PCLO	7	82584021	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	27345876	82584021	76554642	83	245											
FZD1	8321	broad.mit.edu	37	chr7	90894572	90894572	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatcccgctgtgcacggAcatcgcgtacaaccagacca	10	6	8	17	4	0	1	0	0	0	1	3	2	2	2	4	1	3	3	4	1	2	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:90894572A>T	ENST00000287934.2	+	1	790	c.377A>T	c.(376-378)gAc>gTc	p.D126V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	126	FZ.				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGTGCACGGACATCGCGTAC	0.632													17	84					0	0	0	0	T	90894572	A	T	90894572	3	4	2	1	0	0	0	0	1	0	0	0	6176	275	10	5	379	5	FZD1	7	90894572	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	8310551	90894572	68244091	84	246											
CNPY4	245812	broad.mit.edu	37	chr7	99720114	99720114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccacagagagacaaggCtggaagaggccttagagaat	14	7	12	8	0	0	4	0	0	0	4	1	7	1	5	2	3	0	1	2	3	4	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:99720114C>A	ENST00000262932.3	+	3	388	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	86						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGAGACAAGGCTGGAAGAGGC	0.537													6	262					0.0215528	0.0221515	1	0	A	99720114	C	A	99720114	3	1	2	1	0	0	0	0	1	0	0	0	3660	796	28	4	266	4	CNPY4	7	99720114	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	8825542	99720114	59418549	85	247											
GCC1	79571	broad.mit.edu	37	chr7	127222454	127222454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagaaagtgggctcattggCcgctgcaagttgtaatgctt	11	11	12	7	1	1	1	1	0	0	1	1	1	1	1	1	2	2	6	1	2	4	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:127222454C>T	ENST00000321407.2	-	2	2366	c.1942G>A	c.(1942-1944)Gcc>Acc	p.A648T		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	648						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCTCATTGGCCGCTGCAAGT	0.582													4	131					0	0	0	0	T	127222454	C	T	127222454	3	4	2	1	0	0	0	0	1	0	0	0	6334	739	26	4	389	4	GCC1	7	127222454	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	27502340	127222454	31916209	86	248											
COPG2	26958	broad.mit.edu	37	chr7	130295823	130295823	+	Silent	SNP	C	C	A																															ggtttaggtgaagacacttaCccatcctcagtttcttttag																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:130295823C>A	ENST00000445977.2	-	9	827	c.738G>T	c.(736-738)ggG>ggT	p.G246G				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	246					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					AAGACACTTACCCATCCTCAG	0.368													6	123					1.76689e-08	2.08012e-08	1	0	A	130295823	C	A	130295823	2	1	2	1	0	0	0	0	0	0	0	1	3762	521	18	4		4	COPG2	7	130295823	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	3073369	130295823	28842840	87	249	4	2									
COPG2	26958	broad.mit.edu	37	chr7	130295824	130295824	+	Missense_Mutation	SNP	C	C	A																															gtttaggtgaagacacttacCcatcctcagtttcttttagt																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:130295824C>A	ENST00000445977.2	-	9	826	c.737G>T	c.(736-738)gGg>gTg	p.G246V				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	246					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					AGACACTTACCCATCCTCAGT	0.368													6	124					1.76689e-08	2.08012e-08	1	0	A	130295824	C	A	130295824	3	1	2	1	0	0	0	0	1	0	0	0	3762	637	22	4	489	4	COPG2	7	130295824	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	1	130295824	28842839	88	250	4	2									
WDR91	29062	broad.mit.edu	37	chr7	134889075	134889075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggttgaggagggccctgaGcaggcgacaaccttgagggg	9	5	19	8	1	0	3	0	3	0	0	0	6	0	4	2	6	2	2	2	6	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:134889075G>A	ENST00000354475.4	-	6	867	c.836C>T	c.(835-837)gCt>gTt	p.A279V	WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000423565.1_Missense_Mutation_p.A244V|WDR91_ENST00000344400.5_Missense_Mutation_p.A279V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	279										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGGGCCCTGAGCAGGCGACAA	0.592													7	92					0	0	0	0	A	134889075	G	A	134889075	3	1	2	1	0	0	0	0	1	0	0	0	17434	971	34	4	1447	4	WDR91	7	134889075	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	4593251	134889075	24249588	89	251											
TRPV5	56302	broad.mit.edu	37	chr7	142630518	142630518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcagaagtttctggagttgGctcccgggcccttctgcctt	4	12	13	12	1	2	1	0	0	2	1	3	2	3	2	3	4	1	4	3	4	1	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:142630518G>T	ENST00000265310.1	-	1	387	c.39C>A	c.(37-39)agC>agA	p.S13R	TRPV5_ENST00000442623.1_Missense_Mutation_p.S13R	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	13					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCTGGAGTTGGCTCCCGGGCC	0.517													10	160					3.86212e-05	4.31159e-05	1	0	T	142630518	G	T	142630518	3	4	2	1	0	0	0	0	1	0	0	0	16694	1194	42	4	2210	4	TRPV5	7	142630518	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	7741443	142630518	16508145	90	252											
CNTNAP2	26047	broad.mit.edu	37	chr7	147259261	147259261	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttcctgtgaagcctacaaAcacctaggacagacatcaaa	15	7	6	13	0	1	2	1	1	0	1	2	3	2	3	4	1	3	0	4	1	5	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:147259261A>T	ENST00000361727.3	+	12	2325	c.1809A>T	c.(1807-1809)aaA>aaT	p.K603N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	603	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAGCCTACAAACACCTAGGAC	0.448										HNSCC(39;0.1)			18	113					0	0	0	0	T	147259261	A	T	147259261	3	4	2	1	0	0	0	0	1	0	0	0	3677	40	2	5	1855	5	CNTNAP2	7	147259261	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	4628743	147259261	11879402	91	253											
GIMAP6	474344	broad.mit.edu	37	chr7	150325305	150325305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggcccagttgtgtcaccagGagcacggcgtggggccctgg	5	6	17	13	3	1	0	1	0	0	0	1	1	1	1	3	6	1	2	3	6	0	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:150325305G>T	ENST00000493969.1	-	3	334	c.157C>A	c.(157-159)Cct>Act	p.P53T	GIMAP6_ENST00000328902.5_Silent_p.L127L	NM_001244071.1	NP_001231000.1	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	0							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGTCACCAGGAGCACGGCGT	0.627													7	153					0.00198382	0.00208865	1	0	T	150325305	G	T	150325305	3	4	2	1	0	0	0	0	1	0	0	0	6434	1161	41	2	501	2	GIMAP6	7	150325305	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	3066044	150325305	8813358	92	254											
ABCB8	11194	broad.mit.edu	37	chr7	150737355	150737355	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctctcctttttctgacagGtccatggccaacctctctgt	5	15	6	15	0	3	1	0	1	3	0	7	1	5	1	4	2	1	0	4	2	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr7:150737355G>T	ENST00000358849.4	+	10	1311	c.1217_splice	c.e10-1	p.R406_splice	ABCB8_ENST00000356058.4_Splice_Site_p.V445_splice|ABCB8_ENST00000297504.6_Splice_Site_p.R423_splice|ABCB8_ENST00000542328.1_Splice_Site_p.R318_splice|ABCB8_ENST00000498578.1_Splice_Site_p.R406_splice	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	423	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTCTGACAGGTCCATGGCCA	0.617													6	158					0.00116845	0.00125053	1	0	T	150737355	G	T	150737355	5	4	2	1	0	0	0	0	0	0	1	0	47	1275	44	4	1256	4	ABCB8	7	150737355	Splice_Site	SNP	G	TCGA-BA-4075-01A-01D-1434-08	412050	150737355	8401308	93	255											
PSD3	23362	broad.mit.edu	37	chr8	18430163	18430163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgattttgtttatccaccCttgcatttcctctgggctcc	5	18	6	12	0	1	1	0	1	1	0	4	1	4	1	4	1	1	3	4	1	1	7			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:18430163C>T	ENST00000440756.2	-	14	2767	c.2665G>A	c.(2665-2667)Ggg>Agg	p.G889R	PSD3_ENST00000523619.1_Missense_Mutation_p.G822R|PSD3_ENST00000286485.8_Missense_Mutation_p.G353R|PSD3_ENST00000428502.2_Missense_Mutation_p.G216R|PSD3_ENST00000327040.8_Missense_Mutation_p.G887R			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	888	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTTATCCACCCTTGCATTTCC	0.428													18	279					0	0	0	0	T	18430163	C	T	18430163	3	4	2	1	0	0	0	0	1	0	0	0	12727	681	24	4	496	4	PSD3	8	18430163	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08		18430163	127933859	94	256											
LOXL2	4017	broad.mit.edu	37	chr8	23191125	23191125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtagcgctgcttcctccgtGaggcaaacattctgcagacg	9	9	11	12	3	1	2	0	1	1	1	3	2	3	2	2	1	4	5	2	1	2	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:23191125G>A	ENST00000389131.3	-	5	1124	c.755C>T	c.(754-756)tCa>tTa	p.S252L		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	252	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTTCCTCCGTGAGGCAAACAT	0.617													6	61					0	0	0	0	A	23191125	G	A	23191125	3	1	2	1	0	0	0	0	1	0	0	0	8964	1294	45	2	1609	2	LOXL2	8	23191125	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	4760962	23191125	123172897	95	257											
ADRA1A	148	broad.mit.edu	37	chr8	26627907	26627907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccatccgtcttggagatcCtgtagaaggtctctcttgat	7	13	10	11	2	3	3	0	1	3	2	6	4	5	3	3	2	0	1	3	2	2	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:26627907C>T	ENST00000380573.3	-	3	2183	c.1160G>A	c.(1159-1161)aGg>aAg	p.R387K	ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R387K|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R387K|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R387K|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R387K|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Missense_Mutation_p.R387K			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	387				R -> G (in Ref. 9; AAK77197).	activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTTGGAGATCCTGTAGAAGGT	0.562													14	274					0	0	0	0	T	26627907	C	T	26627907	3	4	2	1	0	0	0	0	1	0	0	0	334	681	24	4	535	4	ADRA1A	8	26627907	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	3436782	26627907	119736115	96	258											
PPP2CB	5516	broad.mit.edu	37	chr8	30657106	30657106	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctccactgaataatatcCtctgtctacatagtcaccca	12	12	4	13	0	4	1	1	1	3	0	6	1	5	1	3	0	1	0	3	0	5	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:30657106C>A	ENST00000221138.4	-	2	718	c.268G>T	c.(268-270)Gga>Tga	p.G90*	PPP2CB_ENST00000520500.1_5'UTR|PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	90					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	GAATAATATCCTCTGTCTACA	0.343													11	253					6.42651e-13	7.92603e-13	1	0	A	30657106	C	A	30657106	4	1	2	1	0	0	0	0	0	1	0	0	12457	690	24	4	685	4	PPP2CB	8	30657106	Nonsense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	4029199	30657106	115706916	97	259											
CHD7	55636	broad.mit.edu	37	chr8	61778180	61778180	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctagccttcaaccctttcctCctgtccacaatggccccggg	6	10	7	18	1	1	0	1	0	0	0	4	0	4	0	7	2	2	0	7	2	3	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:61778180C>T	ENST00000423902.2	+	38	9161	c.8682C>T	c.(8680-8682)ctC>ctT	p.L2894L	CHD7_ENST00000524602.1_Silent_p.L845L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2894					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACCCTTTCCTCCTGTCCACAA	0.587													26	113					0	0	0	0	T	61778180	C	T	61778180	2	4	2	1	0	0	0	0	0	0	0	1	3359	842	30	2		2	CHD7	8	61778180	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	31121074	61778180	84585842	98	260											
ZFHX4	79776	broad.mit.edu	37	chr8	77768487	77768487	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctccagtccttctcccCggaatgaacggtccatcctc	6	11	6	18	2	1	1	0	1	1	0	8	2	6	2	7	2	1	0	7	2	2	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:77768487C>T	ENST00000521891.2	+	10	9778	c.9330C>T	c.(9328-9330)ccC>ccT	p.P3110P	ZFHX4_ENST00000455469.2_Silent_p.P3065P|ZFHX4_ENST00000050961.6_Silent_p.P3065P|ZFHX4_ENST00000518282.1_Silent_p.P3084P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3065	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P3094P(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCTTCTCCCCGGAATGAACG	0.527										HNSCC(33;0.089)			10	97					0	0	0	0	T	77768487	C	T	77768487	2	4	2	1	0	0	0	0	0	0	0	1	17730	639	23	1		1	ZFHX4	8	77768487	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	15990307	77768487	68595535	99	261											
C8orf59	401466	broad.mit.edu	37	chr8	86127184	86127184	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggttcaagtgaaatgcttTttgcgaaatgtgcaagttcc	11	13	11	6	1	1	1	1	1	0	0	2	3	2	1	1	1	3	4	1	1	4	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:86127184T>A	ENST00000417663.2	-	3	268	c.197A>T	c.(196-198)aAa>aTa	p.K66I	C8orf59_ENST00000421308.2_Missense_Mutation_p.K66I|C8orf59_ENST00000518091.1_Missense_Mutation_p.K66I|C8orf59_ENST00000518562.1_Intron|C8orf59_ENST00000431163.2_Intron|C8orf59_ENST00000524353.1_Missense_Mutation_p.K66I|E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000458398.2_Missense_Mutation_p.K66I	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	66																	TGAAATGCTTTTTGCGAAATG	0.294													9	31					0	0	0	0	A	86127184	T	A	86127184	3	1	2	1	0	0	0	0	1	0	0	0	2459	1841	64	5	107	5	C8orf59	8	86127184	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	8358697	86127184	60236838	100	262											
VPS13B	157680	broad.mit.edu	37	chr8	100155309	100155309	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtcctcttgattttcgtttgGatagcagtgcggtgcatagg	6	15	13	7	2	1	1	0	1	1	0	3	2	2	2	1	3	3	3	1	3	2	6			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr8:100155309G>C	ENST00000395996.1	+	13	1870	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H	VPS13B_ENST00000358544.2_Missense_Mutation_p.D587H|VPS13B_ENST00000355155.1_Missense_Mutation_p.D587H|VPS13B_ENST00000357162.2_Missense_Mutation_p.D587H			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	587					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTTCGTTTGGATAGCAGTGC	0.388													10	266					0	0	0	0	C	100155309	G	C	100155309	3	2	2	1	0	0	0	0	1	0	0	0	17286	1174	41	2	1847	2	VPS13B	8	100155309	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	14028125	100155309	46208713	101	263											
KCNV2	169522	broad.mit.edu	37	chr9	2719000	2719000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctgctcttcatcgccatgGgcatcttcactttctctgcg	4	15	8	14	2	5	0	2	0	3	0	7	0	5	0	1	1	3	3	1	1	0	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:2719000G>A	ENST00000382082.3	+	1	1499	c.1261G>A	c.(1261-1263)Ggc>Agc	p.G421S		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	421						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CATCGCCATGGGCATCTTCAC	0.637													11	75					0	0	0	0	A	2719000	G	A	2719000	3	1	2	1	0	0	0	0	1	0	0	0	8148	1232	43	4	1263	4	KCNV2	9	2719000	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08		2719000	138494431	102	264											
DENND4C	55667	broad.mit.edu	37	chr9	19300201	19300201	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtggagccaactttagcAccttgctaatgaatctgggt	10	12	10	9	0	1	1	0	1	1	0	1	2	1	2	2	2	4	2	2	2	5	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:19300201A>T	ENST00000380432.2	+	5	508	c.475A>T	c.(475-477)Acc>Tcc	p.T159S	DENND4C_ENST00000434457.2_Missense_Mutation_p.T395S|DENND4C_ENST00000602925.1_Missense_Mutation_p.T395S|DENND4C_ENST00000307015.9_5'UTR	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	159	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CAACTTTAGCACCTTGCTAAT	0.368													13	187					0	0	0	0	T	19300201	A	T	19300201	3	4	2	1	0	0	0	0	1	0	0	0	4472	159	6	5	493	5	DENND4C	9	19300201	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	16581201	19300201	121913230	103	265											
CDKN2A	1029	broad.mit.edu	37	chr9	21971209	21971209	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcccatcatcatgaccTgccagagagaacagaatggt	12	7	10	12	1	2	4	2	1	0	3	2	5	2	4	3	1	3	1	3	1	2	0			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:21971209T>A	ENST00000579755.1	-	2	486		c.e2-2		CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CATCATGACCTGCCAGAGAGA	0.667		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			3	4					0	0	0	0	A	21971209	T	A	21971209	5	1	2	1	0	0	0	0	0	0	1	0	3190	1594	55	5	329	5	CDKN2A	9	21971209	Splice_Site	SNP	T	TCGA-BA-4075-01A-01D-1434-08	2671008	21971209	119242222	104	266											
NCBP1	4686	broad.mit.edu	37	chr9	100433449	100433449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaccctcatatcttggccGtgttccagcagttctgtgcc	6	13	9	13	1	3	1	1	0	2	1	4	1	4	1	4	1	2	3	4	1	2	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:100433449G>A	ENST00000375147.3	+	23	2597	c.2341G>A	c.(2341-2343)Gtg>Atg	p.V781M		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	781					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TATCTTGGCCGTGTTCCAGCA	0.423													24	120					0	0	0	0	A	100433449	G	A	100433449	3	1	2	1	0	0	0	0	1	0	0	0	10281	1145	40	1	2431	1	NCBP1	9	100433449	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	78462240	100433449	40779982	105	267											
SEC61B	10952	broad.mit.edu	37	chr9	101992659	101992659	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatgagtcttctgttcatcGcttctgtatttatgttgcac	6	20	7	8	1	4	1	1	1	3	0	5	1	4	1	0	0	1	5	0	0	3	8			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:101992659G>C	ENST00000498603.1	+	4	349	c.82G>C	c.(82-84)Gct>Cct	p.A28P	SEC61B_ENST00000223641.4_Missense_Mutation_p.A82P			P60468	SC61B_HUMAN	Sec61 beta subunit	82					ER-associated protein catabolic process|protein import into nucleus, translocation|retrograde protein transport, ER to cytosol|transmembrane transport	endoplasmic reticulum Sec complex|integral to membrane	epidermal growth factor binding			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				TCTGTTCATCGCTTCTGTATT	0.373													8	401					0	0	0	0	C	101992659	G	C	101992659	3	2	2	1	0	0	0	0	1	0	0	0	14089	1087	38	3	258	3	SEC61B	9	101992659	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	1559210	101992659	39220772	106	268											
NR4A3	8013	broad.mit.edu	37	chr9	102606941	102606941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattctagtactgtcccaCtgaccaggctgctgcaggca	8	10	10	13	0	1	1	0	1	1	0	2	1	2	1	2	2	4	6	2	2	2	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:102606941C>G	ENST00000330847.1	+	5	1342	c.1298C>G	c.(1297-1299)aCt>aGt	p.T433S	NR4A3_ENST00000395097.2_Missense_Mutation_p.T422S			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	422					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TACTGTCCCACTGACCAGGCT	0.498			T	EWSR1	extraskeletal myxoid chondrosarcoma								18	77					0	0	0	0	G	102606941	C	G	102606941	3	3	2	1	0	0	0	0	1	0	0	0	10705	565	20	4	1394	4	NR4A3	9	102606941	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	614282	102606941	38606490	107	269											
CYLC2	1539	broad.mit.edu	37	chr9	105767514	105767514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggattcaaacaaaggcaaaGactcggcaacagaatctgaa	19	5	9	8	1	2	3	1	1	1	2	3	4	2	4	0	3	2	2	0	3	6	1	rs146533245	byFrequency	TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:105767514G>C	ENST00000374798.3	+	5	671	c.601G>C	c.(601-603)Gac>Cac	p.D201H	CYLC2_ENST00000487798.1_Missense_Mutation_p.D201H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	201	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CAAAGGCAAAGACTCGGCAAC	0.378													5	39					0	0	0	0	C	105767514	G	C	105767514	3	2	2	1	0	0	0	0	1	0	0	0	4174	942	33	2	619	2	CYLC2	9	105767514	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	3160573	105767514	35445917	108	270											
OR13F1	138805	broad.mit.edu	37	chr9	107267227	107267227	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccagtatcctgagaatCagctcagtggaaggtcgaag	11	8	12	10	2	2	1	2	1	0	1	5	4	3	2	2	2	1	2	2	2	4	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:107267227C>A	ENST00000334726.2	+	1	773	c.684C>A	c.(682-684)atC>atA	p.I228I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCCTGAGAATCAGCTCAGTGG	0.473													147	168					1.35182e-49	1.71628e-49	1	0	A	107267227	C	A	107267227	2	1	2	1	0	0	0	0	0	0	0	1	11012	816	29	2		2	OR13F1	9	107267227	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	1499713	107267227	33946204	109	271											
DFNB31	25861	broad.mit.edu	37	chr9	117187304	117187304	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttgtgagatcgccaagaaaCctgtggggaaagacacacat	14	7	12	8	1	0	3	0	1	0	3	1	5	0	4	2	2	1	1	2	2	3	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:117187304C>A	ENST00000374059.3	-	1	1047	c.114G>T	c.(112-114)agG>agT	p.R38S	DFNB31_ENST00000362057.3_Splice_Site_p.G389_splice|DFNB31_ENST00000265134.6_Splice_Site_p.G6_splice			Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	389					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGCCAAGAAACCTGTGGGGAA	0.517													8	206					0.000157383	0.000171993	1	0	A	117187304	C	A	117187304	3	1	2	1	0	0	0	0	1	0	0	0	4492	521	18	4	1588	4	DFNB31	9	117187304	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	9920077	117187304	24026127	110	272											
OLFML2A	169611	broad.mit.edu	37	chr9	127572376	127572376	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcccagcccgaggtgatCgtcctgagtcgcttggaccc	6	7	14	14	3	0	2	0	2	0	0	3	5	1	3	4	3	1	1	4	3	0	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:127572376C>T	ENST00000373580.3	+	8	1644	c.1644C>T	c.(1642-1644)atC>atT	p.I548I	OLFML2A_ENST00000288815.5_Silent_p.I334I	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	548	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCGAGGTGATCGTCCTGAGTC	0.662													47	46					0	0	0	0	T	127572376	C	T	127572376	2	4	2	1	0	0	0	0	0	0	0	1	10928	874	31	1		1	OLFML2A	9	127572376	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	10385072	127572376	13641055	111	273											
ADAMTS13	11093	broad.mit.edu	37	chr9	136324143	136324143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcgttccatgggcagcaGgtgctctactgggagtcaga	9	8	14	10	1	2	1	1	0	1	1	3	2	3	2	1	3	4	4	1	3	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:136324143G>A	ENST00000371929.3	+	29	4569	c.4125G>A	c.(4123-4125)caG>caA	p.Q1375Q	ADAMTS13_ENST00000356589.2_Silent_p.Q1288Q|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Silent_p.Q171Q|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.Q1319Q	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1375	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATGGGCAGCAGGTGCTCTACT	0.602													4	70					0	0	0	0	A	136324143	G	A	136324143	2	1	2	1	0	0	0	0	0	0	0	1	258	991	35	4		4	ADAMTS13	9	136324143	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08	8751767	136324143	4889288	112	274											
NOTCH1	4851	broad.mit.edu	37	chr9	139412299	139412299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgttgacgtcgatctcgCatcgggggcccgtgtagccc	5	9	13	14	6	1	1	0	1	1	0	5	2	1	1	2	2	1	3	2	2	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:139412299C>T	ENST00000277541.6	-	8	1421	c.1346G>A	c.(1345-1347)tGc>tAc	p.C449Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	449	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCGATCTCGCATCGGGGGCC	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			80	29					0	0	0	0	T	139412299	C	T	139412299	3	4	2	1	0	0	0	0	1	0	0	0	10617	710	25	4	6429	4	NOTCH1	9	139412299	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	3088156	139412299	1801132	113	275											
EGFL7	51162	broad.mit.edu	37	chr9	139563027	139563027	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccgtagggtgtgtgctgtCcgggctcacggggaccctgt	4	9	17	11	3	1	0	1	0	0	0	2	1	2	1	3	4	2	3	3	4	1	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr9:139563027C>T	ENST00000371699.1	+	4	1010	c.99C>T	c.(97-99)gtC>gtT	p.V33V	EGFL7_ENST00000371698.3_Silent_p.V33V|EGFL7_ENST00000308874.7_Silent_p.V33V|EGFL7_ENST00000406555.3_Silent_p.V33V|EGFL7_ENST00000492002.1_3'UTR			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	33	EMI.				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TGTGTGCTGTCCGGGCTCACG	0.677													13	170					0	0	0	0	T	139563027	C	T	139563027	2	4	2	1	0	0	0	0	0	0	0	1	5000	842	30	2		2	EGFL7	9	139563027	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	150728	139563027	1650404	114	276											
CALML5	51806	broad.mit.edu	37	chr10	5541247	5541247	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtcaacctcggagatgAgtttccttagctgggcctcc	6	11	11	13	2	1	2	1	1	0	1	4	3	3	2	4	2	2	3	4	2	2	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:5541247A>T	ENST00000380332.3	-	1	286	c.155T>A	c.(154-156)cTc>cAc	p.L52H		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	52	EF-hand 2.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						CTCGGAGATGAGTTTCCTTAG	0.647													4	126					0	0	0	0	T	5541247	A	T	5541247	3	4	2	1	0	0	0	0	1	0	0	0	2614	304	11	5	289	5	CALML5	10	5541247	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08		5541247	129993500	115	277											
NCOA4	8031	broad.mit.edu	37	chr10	51584772	51584772	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatggaaaaggttggagatCaagagcttcctgatcaagat	16	9	11	5	0	2	4	2	1	0	3	3	6	3	5	1	3	1	2	1	3	5	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:51584772C>G	ENST00000452682.1	+	9	1171	c.919C>G	c.(919-921)Caa>Gaa	p.Q307E	NCOA4_ENST00000374082.1_Missense_Mutation_p.Q291E|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_Missense_Mutation_p.Q191E|NCOA4_ENST00000414907.2_Missense_Mutation_p.Q125E|NCOA4_ENST00000438493.1_Missense_Mutation_p.Q307E|NCOA4_ENST00000344348.6_Missense_Mutation_p.Q291E|NCOA4_ENST00000443446.1_Missense_Mutation_p.Q291E|NCOA4_ENST00000374087.4_Missense_Mutation_p.Q291E	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	291					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GGTTGGAGATCAAGAGCTTCC	0.438			T	RET	papillary thyroid								4	162					0	0	0	0	G	51584772	C	G	51584772	3	3	2	1	0	0	0	0	1	0	0	0	10301	827	29	2	949	2	NCOA4	10	51584772	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	46043525	51584772	83949975	116	278											
PCDH15	65217	broad.mit.edu	37	chr10	56138621	56138621	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaacacccagtaatccacaTtatcctttaaagaaagttct	15	12	3	11	0	2	1	1	0	1	1	4	1	4	1	3	0	1	2	3	0	6	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:56138621T>C	ENST00000373965.2	-	4	633	c.239A>G	c.(238-240)aAt>aGt	p.N80S	PCDH15_ENST00000395440.1_Missense_Mutation_p.N80S|PCDH15_ENST00000414778.1_Missense_Mutation_p.N85S|PCDH15_ENST00000395433.1_Missense_Mutation_p.N58S|PCDH15_ENST00000395430.1_Missense_Mutation_p.N80S|PCDH15_ENST00000373955.1_Missense_Mutation_p.N80S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395442.1_Missense_Mutation_p.N80S|PCDH15_ENST00000361849.3_Missense_Mutation_p.N80S|PCDH15_ENST00000395438.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395432.2_Missense_Mutation_p.N80S|PCDH15_ENST00000320301.6_Missense_Mutation_p.N80S|PCDH15_ENST00000373957.3_Missense_Mutation_p.N58S|PCDH15_ENST00000437009.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395446.1_Missense_Mutation_p.N80S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	80	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTAATCCACATTATCCTTTAA	0.423										HNSCC(58;0.16)			37	300					0	0	0	0	C	56138621	T	C	56138621	3	2	2	1	0	0	0	0	1	0	0	0	11582	1493	52	5	7392	5	PCDH15	10	56138621	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	4553849	56138621	79396126	117	279											
ADAMTS14	140766	broad.mit.edu	37	chr10	72468481	72468481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtggacgactcggtggttCgcttccatggcaaggagcat	7	10	15	9	3	0	0	0	0	0	0	3	3	1	2	1	6	1	4	1	6	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:72468481C>T	ENST00000373208.1	+	4	817	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R273C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	273	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTCGGTGGTTCGCTTCCATGG	0.617													8	125					0	0	0	0	T	72468481	C	T	72468481	3	4	2	1	0	0	0	0	1	0	0	0	259	884	31	1	831	1	ADAMTS14	10	72468481	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	16329860	72468481	63066266	118	280											
SLC29A3	55315	broad.mit.edu	37	chr10	73082800	73082800	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggaggaccctgagggcTcagacatcctggtaagggca	9	5	16	11	1	1	2	1	1	0	1	2	4	2	4	3	6	0	3	3	6	1	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:73082800T>G	ENST00000373189.5	+	2	341	c.289T>G	c.(289-291)Tca>Gca	p.S97A		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	97					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CCCTGAGGGCTCAGACATCCT	0.547													3	111					0	0	0	0	G	73082800	T	G	73082800	3	3	2	1	0	0	0	0	1	0	0	0	14624	1551	54	5	295	5	SLC29A3	10	73082800	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	614319	73082800	62451947	119	281											
HTR7	3363	broad.mit.edu	37	chr10	92509030	92509030	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcactatgccattcagggcGatgacgctgtctggctccac	7	11	10	13	2	3	1	2	1	1	0	4	2	4	1	2	2	1	2	2	2	1	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:92509030G>A	ENST00000371721.3	-	2	1103	c.861C>T	c.(859-861)atC>atT	p.I287I	HTR7_ENST00000277874.6_Silent_p.I287I|HTR7_ENST00000371719.2_Silent_p.I287I|HTR7_ENST00000336152.3_Silent_p.I287I			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	287					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CATTCAGGGCGATGACGCTGT	0.488													5	61					0	0	0	0	A	92509030	G	A	92509030	2	1	2	1	0	0	0	0	0	0	0	1	7505	1048	37	1		1	HTR7	10	92509030	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08	19426230	92509030	43025717	120	282											
TBC1D12	23232	broad.mit.edu	37	chr10	96201765	96201765	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttcagaaaacatccaaaAtcattcagcaggtaagtact	17	10	5	9	0	4	1	3	0	1	1	5	1	5	1	1	1	3	3	1	1	6	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:96201765A>G	ENST00000225235.4	+	2	1194	c.1084A>G	c.(1084-1086)Atc>Gtc	p.I362V		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	362						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AACATCCAAAATCATTCAGCA	0.348													3	117					0	0	0	0	G	96201765	A	G	96201765	3	3	2	1	0	0	0	0	1	0	0	0	15692	101	4	5	1090	5	TBC1D12	10	96201765	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	3692735	96201765	39332982	121	283											
PGAM1	5223	broad.mit.edu	37	chr10	99186064	99186065	+	Translation_Start_Site	INS	-	-	A																															cgcatccccagcccgccgccINSatggccgcctacaaactggt																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:99186064_99186065insA	ENST00000334828.5	+	0	148_149					NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)						gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		AGCCCGCCGCCATGGCCGCCTA	0.713													12	41	---	---	---	---					A	99186065	-	A	99186064	6	5	2	1	0	1	1	0	0	0	0	0	11845	609	21	0		0	PGAM1	10	99186064	Translation_Start_Site	INS	-	TCGA-BA-4075-01A-01D-1434-08	2984299	99186064	36348683	122	284											
C10orf137	26098	broad.mit.edu	37	chr10	127436201	127436201	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgggaattgtccactactTactttactatggcaactcta	11	14	6	10	0	1	0	0	0	1	0	2	1	2	1	1	2	4	1	1	2	7	7			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:127436201T>G	ENST00000337623.3	+	19	2914	c.2809T>G	c.(2809-2811)Tac>Gac	p.Y937D	C10orf137_ENST00000356792.4_Missense_Mutation_p.Y971D|RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	971					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTCCACTACTTACTTTACTAT	0.403													60	102					0	0	0	0	G	127436201	T	G	127436201	3	3	2	1	0	0	0	0	1	0	0	0	1604	1754	61	5	2883	5	C10orf137	10	127436201	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	28250137	127436201	8098546	123	285											
GPR123	84435	broad.mit.edu	37	chr10	134942077	134942077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcctccgtgctgcagaacGagcactcattccaggcacag	9	6	11	15	3	1	1	1	0	0	1	3	2	3	1	3	1	4	4	3	1	1	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:134942077G>A	ENST00000607359.1	+	16	2902	c.2902G>A	c.(2902-2904)Gag>Aag	p.E968K	GPR123_ENST00000392606.2_Missense_Mutation_p.E152K|GPR123_ENST00000392607.3_Missense_Mutation_p.E249K			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	249						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCTGCAGAACGAGCACTCATT	0.726													5	3					0	0	0	0	A	134942077	G	A	134942077	3	1	2	1	0	0	0	0	1	0	0	0	6686	1059	37	1	767	1	GPR123	10	134942077	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	7505876	134942077	592670	124	286											
ECHS1	1892	broad.mit.edu	37	chr10	135182483	135182483	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgggccttctcaccggcaTagatgatatcacacatcatg	11	10	8	12	1	3	2	3	1	1	1	4	2	3	2	2	2	0	1	2	2	2	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr10:135182483T>C	ENST00000368547.3	-	4	813	c.458A>G	c.(457-459)tAt>tGt	p.Y153C		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	153					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		CTCACCGGCATAGATGATATC	0.488													17	53					0	0	0	0	C	135182483	T	C	135182483	3	2	2	1	0	0	0	0	1	0	0	0	4932	1406	49	5	434	5	ECHS1	10	135182483	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	240406	135182483	352264	125	287											
OR5P3	120066	broad.mit.edu	37	chr11	7847182	7847182	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccatggcagccagcaggAagcactcggccgtaccaaac	12	3	12	14	2	0	0	0	0	0	0	1	1	0	1	4	4	5	4	4	4	3	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:7847182A>T	ENST00000328375.1	-	1	337	c.338T>A	c.(337-339)tTc>tAc	p.F113Y	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCAGCAGGAAGCACTCGGC	0.552													10	184					0	0	0	0	T	7847182	A	T	7847182	3	4	2	1	0	0	0	0	1	0	0	0	11250	246	9	5	600	5	OR5P3	11	7847182	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08		7847182	127159334	126	288											
PRMT3	10196	broad.mit.edu	37	chr11	20419170	20419170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacagatgtcagaacctgctCgtcatctactagtgtcattg	10	12	8	11	1	4	2	3	0	1	2	5	2	4	2	1	0	3	1	1	0	3	3	rs142076035		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:20419170C>T	ENST00000331079.6	+	7	825	c.608C>T	c.(607-609)tCg>tTg	p.S203L	PRMT3_ENST00000437750.2_Missense_Mutation_p.S141L	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	203							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AGAACCTGCTCGTCATCTACT	0.413													87	114					0	0	0	0	T	20419170	C	T	20419170	3	4	2	1	0	0	0	0	1	0	0	0	12618	893	31	1	634	1	PRMT3	11	20419170	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	12571988	20419170	114587346	127	289											
KBTBD4	55709	broad.mit.edu	37	chr11	47594940	47594940	+	Frame_Shift_Del	DEL	C	C	-																															accagcagcccctgacacagCcacctctagctgagttgtct																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:47594940delC	ENST00000533290.1	-	3	1888	c.1174delG	c.(1174-1176)ctfs	p.A392fs	KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.A367fs|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.A383fs|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.A367fs|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000527079.2_3'UTR			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	367										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CCTGACACAGCCACCTCTAGC	0.507													9	128	---	---	---	---					-	47594940	C	-	47594940	7	5	2	1	0	1	0	1	0	0	0	0	8048	739	26	0	461	0	KBTBD4	11	47594940	Frame_Shift_Del	DEL	C	TCGA-BA-4075-01A-01D-1434-08	27175770	47594940	87411576	128	290											
NUP160	23279	broad.mit.edu	37	chr11	47857319	47857319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgaaggtctttcttcacagGgacatactccagcatgtcag	10	10	9	12	1	4	0	2	0	2	0	5	2	5	1	2	2	2	1	2	2	2	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:47857319G>A	ENST00000378460.2	-	7	1031	c.985C>T	c.(985-987)Cct>Tct	p.P329S	NUP160_ENST00000528071.1_Missense_Mutation_p.P215S|NUP160_ENST00000530326.1_Missense_Mutation_p.P215S|NUP160_ENST00000532747.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	329					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTCTTCACAGGGACATACTCC	0.453													18	178					0	0	0	0	A	47857319	G	A	47857319	3	1	2	1	0	0	0	0	1	0	0	0	10828	1232	43	4	3445	4	NUP160	11	47857319	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	262379	47857319	87149197	129	291											
OR5L2	26338	broad.mit.edu	37	chr11	55595192	55595192	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgtccttagctcttaggatCctcttctatagatctaatgt	8	17	6	10	1	4	1	0	0	4	1	7	2	6	2	2	1	1	1	2	1	5	6			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:55595192C>A	ENST00000378397.1	+	1	498	c.498C>A	c.(496-498)atC>atA	p.I166I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I166I(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTCTTAGGATCCTCTTCTATA	0.478										HNSCC(27;0.073)			13	431					0.00185496	0.0019771	1	0	A	55595192	C	A	55595192	2	1	2	1	0	0	0	0	0	0	0	1	11242	845	30	2		2	OR5L2	11	55595192	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	7737873	55595192	79411324	130	292											
FAM111B	374393	broad.mit.edu	37	chr11	58892538	58892542	+	Frame_Shift_Del	DEL	AAATT	AAATT	-																															tgtagaacacagcagagagcAaattctcccacctcaggatc																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:58892538_58892542delAAATT	ENST00000343597.3	+	4	1159_1163	c.968_972delAAATT	c.(967-972)cfs	p.QI323fs	FAM111B_ENST00000411426.1_Frame_Shift_Del_p.QI293fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.QI293fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	323							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AGCAGAGAGCAAATTCTCCCACCTC	0.366													12	177	---	---	---	---					-	58892542	AAATT	-	58892538	7	5	2	1	0	1	0	1	0	0	0	0	5441	130	5	0	974	0	FAM111B	11	58892538	Frame_Shift_Del	DEL	AAATT	TCGA-BA-4075-01A-01D-1434-08	3297346	58892538	76113978	131	293											
UBXN1	51035	broad.mit.edu	37	chr11	62445536	62445536	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttcccgttccaatgcctcCcgttcctctctttcttcacg	3	15	5	18	4	3	0	1	0	2	0	8	0	7	0	5	0	1	3	5	0	1	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:62445536C>T	ENST00000294119.2	-	5	476	c.345G>A	c.(343-345)cgG>cgA	p.R115R	UBXN1_ENST00000529640.1_Silent_p.R115R|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Silent_p.R115R	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	115	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						CCAATGCCTCCCGTTCCTCTC	0.587													5	124					0	0	0	0	T	62445536	C	T	62445536	2	4	2	1	0	0	0	0	0	0	0	1	17007	610	22	4		4	UBXN1	11	62445536	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	3552998	62445536	72560980	132	294											
ZBTB3	79842	broad.mit.edu	37	chr11	62520234	62520234	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaactttcacctggacCagctcagcttcagctggggc	7	10	10	14	0	4	0	4	0	0	0	4	1	4	1	2	3	4	4	2	3	1	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:62520234C>G	ENST00000394807.3	-	2	1178	c.1053G>C	c.(1051-1053)ctG>ctC	p.L351L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TCACCTGGACCAGCTCAGCTT	0.567													5	138					0	0	0	0	G	62520234	C	G	62520234	2	3	2	1	0	0	0	0	0	0	0	1	17629	581	21	4		4	ZBTB3	11	62520234	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	74698	62520234	72486282	133	295											
CCND1	595	broad.mit.edu	37	chr11	69462871	69462871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacttcctgtcctactaccgCctcacacgcttcctctccag	7	11	4	19	2	2	0	1	0	1	0	6	0	5	0	6	0	3	1	6	0	3	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:69462871C>T	ENST00000227507.2	+	4	911	c.684C>T	c.(682-684)cgC>cgT	p.R228R	CCND1_ENST00000536559.1_3'UTR	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	228					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CCTACTACCGCCTCACACGCT	0.612			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)			13	522					0	0	0	0	T	69462871	C	T	69462871	2	4	2	1	0	0	0	0	0	0	0	1	2945	726	26	4		4	CCND1	11	69462871	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	6942637	69462871	65543645	134	296											
FAT3	120114	broad.mit.edu	37	chr11	92088408	92088408	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctccacactccctatttcCcagactttgctgttgttgga	7	14	6	14	0	0	1	0	0	0	1	3	2	3	2	4	1	1	3	4	1	1	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:92088408C>A	ENST00000298047.6	+	1	3147	c.3130C>A	c.(3130-3132)Cca>Aca	p.P1044T	FAT3_ENST00000409404.2_Missense_Mutation_p.P1044T|FAT3_ENST00000541502.1_Missense_Mutation_p.P1044T|FAT3_ENST00000525166.1_Missense_Mutation_p.P894T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1044	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCCTATTTCCCAGACTTTGC	0.507										TCGA Ovarian(4;0.039)			4	59					0.00909568	0.00942312	1	0	A	92088408	C	A	92088408	3	1	2	1	0	0	0	0	1	0	0	0	5736	623	22	4	3132	4	FAT3	11	92088408	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	22625537	92088408	42918108	135	297											
ZNF259	8882	broad.mit.edu	37	chr11	116653688	116653688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgaacttgcccccgaGgactgccattcccagttcaa	8	10	10	13	1	1	1	1	1	0	0	2	3	2	2	4	2	3	1	4	2	2	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr11:116653688G>A	ENST00000227322.3	-	11	1098	c.1039C>T	c.(1039-1041)Ctc>Ttc	p.L347F		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	347					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TTGCCCCCGAGGACTGCCATT	0.478													118	43					0	0	0	0	A	116653688	G	A	116653688	3	1	2	1	0	0	0	0	1	0	0	0	17896	1000	35	4	356	4	ZNF259	11	116653688	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	24565280	116653688	18352828	136	298											
ABCC9	10060	broad.mit.edu	37	chr12	22063175	22063175	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggcgactaagttgttgatCtgccccagagtcatctcccc	8	11	9	13	1	3	2	1	1	2	1	4	3	3	2	4	1	1	2	4	1	1	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:22063175C>G	ENST00000261200.4	-	8	1235	c.1236G>C	c.(1234-1236)caG>caC	p.Q412H	ABCC9_ENST00000345162.2_Missense_Mutation_p.Q412H|ABCC9_ENST00000261201.4_Missense_Mutation_p.Q412H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	412	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTTGTTGATCTGCCCCAGAG	0.378													7	176					0	0	0	0	G	22063175	C	G	22063175	3	3	2	1	0	0	0	0	1	0	0	0	59	912	32	2	3679	2	ABCC9	12	22063175	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08		22063175	111788720	137	299											
FGD4	121512	broad.mit.edu	37	chr12	32777925	32777925	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggcccttcaagaaaccAtcgatgcttttcatcaaagg	12	12	7	10	1	3	1	3	0	0	1	4	2	3	1	2	2	2	1	2	2	4	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:32777925A>G	ENST00000427716.2	+	13	1982	c.1558A>G	c.(1558-1560)Atc>Gtc	p.I520V	FGD4_ENST00000266482.3_Missense_Mutation_p.I272V|FGD4_ENST00000546442.1_Missense_Mutation_p.I427V|FGD4_ENST00000531134.1_Missense_Mutation_p.I605V|FGD4_ENST00000525053.1_Missense_Mutation_p.I632V|FGD4_ENST00000534526.2_Missense_Mutation_p.I657V	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	520	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TCAAGAAACCATCGATGCTTT	0.308													117	121					0	0	0	0	G	32777925	A	G	32777925	3	3	2	1	0	0	0	0	1	0	0	0	5880	217	8	5	1600	5	FGD4	12	32777925	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	10714750	32777925	101073970	138	300											
ABCD2	225	broad.mit.edu	37	chr12	39947881	39947881	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagcagtatccaattgttCaaagcgccaacctccttcac	12	10	6	13	1	2	0	2	0	0	0	4	1	4	0	4	0	3	3	4	0	5	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:39947881C>A	ENST00000308666.3	-	10	2191	c.2056G>T	c.(2056-2058)Gaa>Taa	p.E686*		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	686	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TCCAATTGTTCAAAGCGCCAA	0.348													7	119					1.26484e-09	1.5237e-09	1	0	A	39947881	C	A	39947881	4	1	2	1	0	0	0	0	0	1	0	0	61	835	29	2	170	2	ABCD2	12	39947881	Nonsense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	7169956	39947881	93904014	139	301											
ADAMTS20	80070	broad.mit.edu	37	chr12	43824171	43824171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgtctgtcactggggCgactagcttcatggcattct	6	14	10	11	1	4	0	2	0	2	0	4	1	4	0	1	3	2	2	1	3	2	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:43824171C>T	ENST00000389420.3	-	23	3364	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1122H|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R276H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1122	TSP type-1 6.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTCACTGGGGCGACTAGCTTC	0.368													5	37					0	0	0	0	T	43824171	C	T	43824171	3	4	2	1	0	0	0	0	1	0	0	0	266	768	27	1	2434	1	ADAMTS20	12	43824171	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	3876290	43824171	90027724	140	302											
SLC11A2	4891	broad.mit.edu	37	chr12	51404506	51404506	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttctgttcaggacccagCaccatggtggatacctgagt	9	11	10	11	0	3	1	1	1	2	0	3	3	3	3	3	3	2	2	3	3	1	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:51404506C>T	ENST00000394904.3	-	2	142	c.93G>A	c.(91-93)gtG>gtA	p.V31V	SLC11A2_ENST00000546743.1_5'UTR|SLC11A2_ENST00000547688.1_Silent_p.V31V|SLC11A2_ENST00000262051.7_Silent_p.V2V|SLC11A2_ENST00000262052.5_Silent_p.V2V|SLC11A2_ENST00000541174.2_Silent_p.V2V|SLC11A2_ENST00000547198.1_Silent_p.V2V	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	2					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CAGGACCCAGCACCATGGTGG	0.363													10	53					0	0	0	0	T	51404506	C	T	51404506	2	4	2	1	0	0	0	0	0	0	0	1	14469	697	25	4		4	SLC11A2	12	51404506	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	7580335	51404506	82447389	141	303											
NCKAP1L	3071	broad.mit.edu	37	chr12	54932700	54932700	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctcttgcagctgggccaGgagactgacaagcttaaaac	12	7	11	11	0	1	2	0	1	1	1	1	3	1	2	2	2	5	3	2	2	3	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:54932700G>A	ENST00000293373.6	+	30	3295	c.3216G>A	c.(3214-3216)caG>caA	p.Q1072Q	NCKAP1L_ENST00000545638.2_Silent_p.Q1022Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1072					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGCTGGGCCAGGAGACTGACA	0.448													3	87					0	0	0	0	A	54932700	G	A	54932700	2	1	2	1	0	0	0	0	0	0	0	1	10292	991	35	4		4	NCKAP1L	12	54932700	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08	3528194	54932700	78919195	142	304											
SMARCC2	6601	broad.mit.edu	37	chr12	56566447	56566447	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgttggtttctctttgccTttgtcaggaaagttgagcat	6	18	10	7	0	3	1	1	1	2	0	4	2	3	2	1	2	2	4	1	2	1	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:56566447T>C	ENST00000394023.3	-	19	1890	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	SMARCC2_ENST00000267064.4_Silent_p.K564K|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.K595K|SMARCC2_ENST00000550164.1_Silent_p.K595K	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	564					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCTCTTTGCCTTTGTCAGGAA	0.502													61	148					0	0	0	0	C	56566447	T	C	56566447	2	2	2	1	0	0	0	0	0	0	0	1	14864	1606	56	5		5	SMARCC2	12	56566447	Silent	SNP	T	TCGA-BA-4075-01A-01D-1434-08	1633747	56566447	77285448	143	305											
MDM2	4193	broad.mit.edu	37	chr12	69233471	69233471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccattgaaccttgtgtgAtttgtcaaggtcgacctaaa	11	13	9	8	1	1	2	1	2	0	0	2	3	1	2	3	1	2	0	3	1	4	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:69233471A>G	ENST00000462284.1	+	11	1638	c.1336A>G	c.(1336-1338)Att>Gtt	p.I446V	MDM2_ENST00000258148.7_Missense_Mutation_p.I391V|MDM2_ENST00000350057.5_Missense_Mutation_p.I415V|MDM2_ENST00000393413.3_Missense_Mutation_p.I167V|MDM2_ENST00000545204.1_3'UTR|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.I245V|MDM2_ENST00000360430.2_Missense_Mutation_p.I245V|MDM2_ENST00000356290.4_Missense_Mutation_p.I270V|MDM2_ENST00000348801.2_Missense_Mutation_p.I214V|MDM2_ENST00000299252.4_Missense_Mutation_p.I270V|MDM2_ENST00000517852.1_Missense_Mutation_p.I79V|MDM2_ENST00000258149.5_Missense_Mutation_p.I385V|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Missense_Mutation_p.I219V|MDM2_ENST00000393410.1_Missense_Mutation_p.I192V|MDM2_ENST00000393412.3_Missense_Mutation_p.I167V	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	440	Necessary for interaction with USP2.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ACCTTGTGTGATTTGTCAAGG	0.408			A		"sarcoma, glioma, colorectal, other"								9	114					0	0	0	0	G	69233471	A	G	69233471	3	3	2	1	0	0	0	0	1	0	0	0	9482	333	12	5	1378	5	MDM2	12	69233471	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	12667024	69233471	64618424	144	306											
NDUFA12	55967	broad.mit.edu	37	chr12	95365236	95365236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacttgtaaggtgttgaagGtgggatccactcctgaatct	9	14	11	7	0	1	2	0	2	1	0	3	3	3	3	2	3	1	2	2	3	4	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:95365236G>A	ENST00000327772.2	-	4	507	c.418C>T	c.(418-420)Cct>Tct	p.P140S	NDUFA12_ENST00000547157.1_Missense_Mutation_p.T43I|NDUFA12_ENST00000550187.1_5'UTR|NDUFA12_ENST00000547986.1_3'UTR	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	140					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	GGTGTTGAAGGTGGGATCCAC	0.358													15	148					0	0	0	0	A	95365236	G	A	95365236	3	1	2	1	0	0	0	0	1	0	0	0	10332	1261	44	4	23	4	NDUFA12	12	95365236	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	26131765	95365236	38486659	145	307											
VEZT	55591	broad.mit.edu	37	chr12	95645720	95645720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtgtctttttcagaattCtccactttaccaatacttac	9	19	3	10	0	3	1	1	0	2	1	4	1	3	1	2	0	3	0	2	0	5	8			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:95645720C>T	ENST00000436874.1	+	2	146	c.41C>T	c.(40-42)tCt>tTt	p.S14F	VEZT_ENST00000261219.6_5'UTR|VEZT_ENST00000356859.4_Intron	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	14						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTTCAGAATTCTCCACTTTAC	0.363													9	97					0	0	0	0	T	95645720	C	T	95645720	3	4	2	1	0	0	0	0	1	0	0	0	17252	913	32	2	47	2	VEZT	12	95645720	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	280484	95645720	38206175	146	308											
RBM19	9904	broad.mit.edu	37	chr12	114358415	114358415	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctgagaatcttcactttaCctggagctgcttgagagctt	9	13	10	9	0	2	2	1	2	1	2	2	5	2	3	1	1	5	4	1	1	2	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:114358415C>A	ENST00000545145.2	-	19	2464		c.e19+1		RBM19_ENST00000261741.5_Splice_Site|RBM19_ENST00000392561.3_Splice_Site	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19						multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					cTTCACTTTACCTGGAGCTGC	0.517													23	422					0.00047179	0.000513418	1	0	A	114358415	C	A	114358415	5	1	2	1	0	0	0	0	0	0	1	0	13203	521	18	4	520	4	RBM19	12	114358415	Splice_Site	SNP	C	TCGA-BA-4075-01A-01D-1434-08	18712695	114358415	19493480	147	309											
RBM19	9904	broad.mit.edu	37	chr12	114404022	114404022	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggagattcttcacgatcAgtcgcgacatggcgcagggt	8	9	14	10	5	3	1	2	0	1	1	5	4	3	1	0	3	0	1	0	3	0	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:114404022A>C	ENST00000545145.2	-	1	89	c.11T>G	c.(10-12)cTg>cGg	p.L4R	RBM19_ENST00000261741.5_Missense_Mutation_p.L4R|RBM19_ENST00000392561.3_Missense_Mutation_p.L4R	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	4	RRM 1.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTTCACGATCAGTCGCGACAT	0.582											OREG0022146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	93					0	0	0	0	C	114404022	A	C	114404022	3	2	2	1	0	0	0	0	1	0	0	0	13203	188	7	5	2967	5	RBM19	12	114404022	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	45607	114404022	19447873	148	310											
DNAH10	196385	broad.mit.edu	37	chr12	124297944	124297944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggacaaagctattgtgatGgagaaatttgctgccaagaa	14	11	11	5	0	0	3	0	1	0	2	0	5	0	4	1	2	3	2	1	2	5	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr12:124297944G>A	ENST00000409039.3	+	19	3049	c.3024G>A	c.(3022-3024)atG>atA	p.M1008I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1008	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTATTGTGATGGAGAAATTTG	0.403													10	197					0	0	0	0	A	124297944	G	A	124297944	3	1	2	1	0	0	0	0	1	0	0	0	4635	1348	47	4	3098	4	DNAH10	12	124297944	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	9893922	124297944	9553951	149	311											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24470966	24470966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtcaggtgagtacctgcatCgcctttgtcacccttcgctc	5	12	9	15	3	2	1	2	1	0	0	5	1	2	1	3	1	2	3	3	1	1	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:24470966C>T	ENST00000382137.3	-	1	228	c.160G>A	c.(160-162)Gat>Aat	p.D54N	C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.D54N|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.D54N|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.D54N|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000417034.1_RNA	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	54	Collagen-like 1.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GTACCTGCATCGCCTTTGTCA	0.552													6	132					0	0	0	0	T	24470966	C	T	24470966	3	4	2	1	0	0	0	0	1	0	0	0	1990	884	31	1	852	1	C1QTNF9B	13	24470966	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08		24470966	90698912	150	312											
FLT3	2322	broad.mit.edu	37	chr13	28599056	28599056	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatccgagtccgggtgtatCtgaacttctcttgaaccagg	8	12	11	10	2	2	3	0	3	2	0	5	4	4	3	3	2	2	1	3	2	3	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:28599056C>T	ENST00000380982.4	-	18	2313	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	FLT3_ENST00000241453.7_Silent_p.Q744Q|FLT3_ENST00000537084.1_Silent_p.Q744Q			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	744	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCGGGTGTATCTGAACTTCTC	0.308			"Mis, O"		"AML, ALL"								143	112					0	0	0	0	T	28599056	C	T	28599056	2	4	2	1	0	0	0	0	0	0	0	1	5987	912	32	2		2	FLT3	13	28599056	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	4128090	28599056	86570822	151	313											
PAN3	255967	broad.mit.edu	37	chr13	28854571	28854571	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgttgactgaccaaaacAggatgcgaagtgtaaatgac	15	10	10	6	1	0	3	0	3	0	0	0	5	0	4	1	1	2	2	1	1	5	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:28854571A>C	ENST00000399613.1	+	15	1675	c.1612A>C	c.(1612-1614)Agg>Cgg	p.R538R	PAN3_ENST00000282391.5_Silent_p.R426R|PAN3_ENST00000380958.3_Silent_p.R738R			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	738	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TGACCAAAACAGGATGCGAAG	0.373													94	85					0	0	0	0	C	28854571	A	C	28854571	2	2	2	1	0	0	0	0	0	0	0	1	11486	179	7	5		5	PAN3	13	28854571	Silent	SNP	A	TCGA-BA-4075-01A-01D-1434-08	255515	28854571	86315307	152	314											
RCBTB2	1102	broad.mit.edu	37	chr13	49086282	49086282	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgatccagatcctacctgcCcagagttattataaccccag	11	11	6	13	0	0	3	0	1	0	2	2	3	2	3	6	0	3	1	6	0	4	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:49086282C>A	ENST00000344532.3	-	8	968	c.545G>T	c.(544-546)gGg>gTg	p.G182V	RCBTB2_ENST00000544492.1_Intron|RCBTB2_ENST00000544904.1_Missense_Mutation_p.G158V|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000430805.2_Missense_Mutation_p.G187V	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	182							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TCCTACCTGCCCAGAGTTATT	0.408													11	232					1.58986e-06	1.82201e-06	1	0	A	49086282	C	A	49086282	3	1	2	1	0	0	0	0	1	0	0	0	13254	623	22	4	1142	4	RCBTB2	13	49086282	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	20231711	49086282	66083596	153	315											
PIBF1	10464	broad.mit.edu	37	chr13	73467981	73467981	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaatttctccatcaaagtaAattaaaatcttttgaaagtg	17	14	5	5	0	3	2	1	1	2	1	4	2	3	2	1	0	0	1	1	0	7	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:73467981A>T	ENST00000326291.6	+	11	1720	c.1382A>T	c.(1381-1383)aAa>aTa	p.K461I		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	461						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CATCAAAGTAAATTAAAATCT	0.343													32	81					0	0	0	0	T	73467981	A	T	73467981	3	4	2	1	0	0	0	0	1	0	0	0	11951	14	1	5	1420	5	PIBF1	13	73467981	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	24381699	73467981	41701897	154	316											
RBM26	64062	broad.mit.edu	37	chr13	79911341	79911341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccaggcacacctcgccCtcgccctcgccccctgcctc	5	6	7	23	3	0	1	0	1	0	0	4	1	0	1	7	1	1	1	7	1	0	0			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:79911341C>A	ENST00000438737.2	-	19	3069	c.2629G>T	c.(2629-2631)Ggg>Tgg	p.G877W	RBM26_ENST00000267229.7_Missense_Mutation_p.G850W|RBM26_ENST00000438724.1_Missense_Mutation_p.G853W			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	877					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ACACCTCGCCCTCGCCCTCGC	0.557													7	107					8.12818e-05	8.9583e-05	1	0	A	79911341	C	A	79911341	3	1	2	1	0	0	0	0	1	0	0	0	13208	681	24	4	410	4	RBM26	13	79911341	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	6443360	79911341	35258537	155	317											
SLITRK5	26050	broad.mit.edu	37	chr13	88327784	88327784	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgattattatggggaaatCtgtgacaatgcatgtccttg	11	14	10	6	1	1	1	0	1	1	0	3	3	2	2	1	2	1	1	1	2	4	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:88327784C>A	ENST00000325089.6	+	2	360	c.141C>A	c.(139-141)atC>atA	p.I47I	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	47						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATGGGGAAATCTGTGACAATG	0.458													98	124					2.5264e-35	3.1764e-35	1	0	A	88327784	C	A	88327784	2	1	2	1	0	0	0	0	0	0	0	1	14834	903	32	2		2	SLITRK5	13	88327784	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	8416443	88327784	26842094	156	318											
FARP1	10160	broad.mit.edu	37	chr13	99042216	99042216	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttccctttttagagtgcGtaccaggataccttggaatt	9	16	8	8	1	0	1	0	0	0	1	1	3	1	3	3	2	3	1	3	2	4	9			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:99042216G>A	ENST00000376586.2	+	10	1197	c.861G>A	c.(859-861)gcG>gcA	p.A287A	FARP1_ENST00000319562.6_Silent_p.A287A|FARP1_ENST00000595437.1_Silent_p.A287A			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	287	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTAGAGTGCGTACCAGGATA	0.418													29	272					0	0	0	0	A	99042216	G	A	99042216	2	1	2	1	0	0	0	0	0	0	0	1	5721	1132	40	1		1	FARP1	13	99042216	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08	10714432	99042216	16127662	157	319											
MYO16	23026	broad.mit.edu	37	chr13	109817248	109817248	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttttctaaaatttattttaGgttttgaaactaacatgaac	14	18	5	4	0	1	2	0	2	1	0	1	2	1	2	0	1	3	2	0	1	7	10			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:109817248G>C	ENST00000356711.2	+	33	5224		c.e33-1		MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000357550.2_Splice_Site	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI						cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATTTATTTTAGGTTTTGAAAC	0.284													25	55					0	0	0	0	C	109817248	G	C	109817248	5	2	2	1	0	0	0	0	0	0	1	0	10134	1014	35	4	5224	4	MYO16	13	109817248	Splice_Site	SNP	G	TCGA-BA-4075-01A-01D-1434-08	10775032	109817248	5352630	158	320											
CUL4A	8451	broad.mit.edu	37	chr13	113914958	113914958	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccactgagagagtgtttcAggatagacaatatcagattg	14	10	10	7	0	2	4	2	1	0	3	2	6	2	5	1	1	0	1	1	1	3	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:113914958A>C	ENST00000451881.1	+	19	2018	c.1769A>C	c.(1768-1770)cAg>cCg	p.Q590P	CUL4A_ENST00000326335.4_Missense_Mutation_p.Q590P|CUL4A_ENST00000375440.4_Missense_Mutation_p.Q690P|CUL4A_ENST00000375441.3_Missense_Mutation_p.Q590P	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	690					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AGAGTGTTTCAGGATAGACAA	0.323													3	70					0	0	0	0	C	113914958	A	C	113914958	3	2	2	1	0	0	0	0	1	0	0	0	4089	188	7	5	2143	5	CUL4A	13	113914958	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	4097710	113914958	1254920	159	321											
GAS6	2621	broad.mit.edu	37	chr13	114535695	114535695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggacttcacactcttggCcacgctgaagggcacgcacg	10	6	11	14	3	2	1	1	1	1	0	2	2	2	2	1	3	0	3	1	3	2	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr13:114535695C>T	ENST00000357389.3	-	9	1146	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000355761.4_Missense_Mutation_p.A235T|GAS6_ENST00000418959.3_5'UTR|GAS6_ENST00000450766.1_Missense_Mutation_p.A16T|GAS6_ENST00000327773.6_Missense_Mutation_p.A289T|GAS6-AS1_ENST00000458001.1_RNA			Q14393	GAS6_HUMAN	growth arrest-specific 6	332					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				ACACTCTTGGCCACGCTGAAG	0.667													8	160					0	0	0	0	T	114535695	C	T	114535695	3	4	2	1	0	0	0	0	1	0	0	0	6298	739	26	4	1199	4	GAS6	13	114535695	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	620737	114535695	634183	160	322											
CBLN3	643866	broad.mit.edu	37	chr14	24900024	24900024	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcgggaacagcagcccCatgtggagcgcatcttcagc	9	7	13	12	2	2	0	1	0	1	0	3	2	2	2	2	3	5	3	2	3	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:24900024C>T	ENST00000555436.1	-	1	136	c.68G>A	c.(67-69)tGg>tAg	p.W23*	KHNYN_ENST00000553935.1_Missense_Mutation_p.H30Y|KHNYN_ENST00000556842.1_Missense_Mutation_p.H30Y|KHNYN_ENST00000251343.5_Missense_Mutation_p.H30Y			Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	0						cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		ACAGCAGCCCCATGTGGAGCG	0.667													9	15					0	0	0	0	T	24900024	C	T	24900024	4	4	2	1	0	0	0	0	0	1	0	0	2731	594	21	4		4	CBLN3	14	24900024	Nonsense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08		24900024	82449516	161	323											
WDR89	112840	broad.mit.edu	37	chr14	64066011	64066011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccaatacagcttactgatGaaattgagttacaggttgta	15	12	8	6	0	0	3	0	3	0	0	0	3	0	3	1	1	5	4	1	1	7	6			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:64066011G>A	ENST00000394942.2	-	2	738	c.650C>T	c.(649-651)tCa>tTa	p.S217L	WDR89_ENST00000267522.3_Missense_Mutation_p.S217L	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	217										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		GCTTACTGATGAAATTGAGTT	0.373													53	274					0	0	0	0	A	64066011	G	A	64066011	3	1	2	1	0	0	0	0	1	0	0	0	17432	1294	45	2	517	2	WDR89	14	64066011	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	39165987	64066011	43283529	162	324											
TMEM63C	57156	broad.mit.edu	37	chr14	77703058	77703058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcactgcctggggtttgcaCccaggaatagccaaaaggta	12	8	11	10	0	1	0	1	0	0	0	1	1	1	1	3	4	3	3	3	4	5	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:77703058C>T	ENST00000298351.4	+	9	778	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	212						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GGGGTTTGCACCCAGGAATAG	0.547													6	145					0	0	0	0	T	77703058	C	T	77703058	3	4	2	1	0	0	0	0	1	0	0	0	16286	507	18	4	660	4	TMEM63C	14	77703058	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	13637047	77703058	29646482	163	325											
SNW1	22938	broad.mit.edu	37	chr14	78189539	78189539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacctcttatcaggagctGccctggaaagattccggtca	9	10	9	13	1	3	1	2	0	1	1	4	3	4	3	4	3	3	1	4	3	3	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:78189539G>T	ENST00000261531.7	-	11	1177	c.1115C>A	c.(1114-1116)gCa>gAa	p.A372E	SNW1_ENST00000554775.1_Missense_Mutation_p.A210E|SNW1_ENST00000555761.1_Missense_Mutation_p.A372E|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	372					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATCAGGAGCTGCCCTGGAAAG	0.517													35	182					7.63505e-26	9.55303e-26	1	0	T	78189539	G	T	78189539	3	4	2	1	0	0	0	0	1	0	0	0	14967	1319	46	4	511	4	SNW1	14	78189539	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	486481	78189539	29160001	164	326											
NRXN3	9369	broad.mit.edu	37	chr14	79933679	79933679	+	Frame_Shift_Del	DEL	G	G	-																															gtgggcttcagcaccactgtGaaggatggcatcttggtccg																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:79933679delG	ENST00000281127.7	+	2	1242	c.363delG	c.(361-363)gtfs	p.V121fs	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Frame_Shift_Del_p.V121fs|NRXN3_ENST00000554719.1_Frame_Shift_Del_p.V753fs|NRXN3_ENST00000428277.2_Frame_Shift_Del_p.V121fs|NRXN3_ENST00000335750.5_Frame_Shift_Del_p.V753fs	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	121	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)		GCACCACTGTGAAGGATGGCA	0.562													7	289	---	---	---	---					-	79933679	G	-	79933679	7	5	2	1	0	1	0	1	0	0	0	0	10738	1277	45	0	2552	0	NRXN3	14	79933679	Frame_Shift_Del	DEL	G	TCGA-BA-4075-01A-01D-1434-08	1744140	79933679	27415861	165	327											
BRF1	2972	broad.mit.edu	37	chr14	105686450	105686450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactgaggtccagctcacCgtctcctgaagcatcttctg	7	10	9	15	1	4	2	1	2	3	0	6	2	5	2	4	1	2	2	4	1	1	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr14:105686450C>T	ENST00000546474.1	-	12	16292	c.1333G>A	c.(1333-1335)Ggt>Agt	p.G445S	BRF1_ENST00000440513.3_Missense_Mutation_p.G330S|BRF1_ENST00000327359.3_Missense_Mutation_p.G330S|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000446501.2_Missense_Mutation_p.G207S|BRF1_ENST00000379937.2_Missense_Mutation_p.G418S|BRF1_ENST00000392557.4_Missense_Mutation_p.G241S	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	445					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCCAGCTCACCGTCTCCTGAA	0.627													8	120					0	0	0	0	T	105686450	C	T	105686450	3	4	2	1	0	0	0	0	1	0	0	0	1518	652	23	1	728	1	BRF1	14	105686450	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	25752771	105686450	1663090	166	328											
GABRG3	2567	broad.mit.edu	37	chr15	27772605	27772605	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggtgctgaccatgaccAccctgagcaccatcgccagg	9	5	10	17	2	0	3	0	3	0	0	1	3	0	3	6	2	2	2	6	2	0	0			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:27772605A>G	ENST00000333743.6	+	8	1146	c.892A>G	c.(892-894)Acc>Gcc	p.T298A	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	298					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GACCATGACCACCCTGAGCAC	0.582													11	86					0	0	0	0	G	27772605	A	G	27772605	3	3	2	1	0	0	0	0	1	0	0	0	6221	159	6	5	922	5	GABRG3	15	27772605	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08		27772605	74758787	167	329											
GLDN	342035	broad.mit.edu	37	chr15	51696666	51696666	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caactggatgagaggacattCtcagtggtgcaacacgtcaa	13	8	11	9	1	2	1	2	1	1	1	3	4	2	3	0	3	3	1	0	3	3	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:51696666C>T	ENST00000335449.6	+	10	1427	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	GLDN_ENST00000396399.2_Silent_p.F333F	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	457	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGAGGACATTCTCAGTGGTGC	0.473													13	158					0	0	0	0	T	51696666	C	T	51696666	2	4	2	1	0	0	0	0	0	0	0	1	6485	912	32	2		2	GLDN	15	51696666	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	23924061	51696666	50834726	168	330											
GCOM1	145781	broad.mit.edu	37	chr15	57925871	57925871	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaagatgcaagcagcaGagatcagcctagaggagaaa	20	4	11	6	0	1	4	1	0	0	4	1	6	1	4	1	1	4	3	1	1	6	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:57925871G>T	ENST00000574161.1	+	8	984	c.865G>T	c.(865-867)Gag>Tag	p.E289*	POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000396180.1_Nonsense_Mutation_p.E258*|GCOM1_ENST00000380560.2_Nonsense_Mutation_p.E220*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.E289*|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.E289*|GCOM1_ENST00000380561.2_Nonsense_Mutation_p.E258*|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.E289*|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.E289*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.E289*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.E289*	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		289					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GCAAGCAGCAGAGATCAGCCT	0.473													5	139					0.000157383	0.000171993	1	0	T	57925871	G	T	57925871	4	4	2	1	0	0	0	0	0	1	0	0	6354	943	33	2	895	2	GCOM1	15	57925871	Nonsense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	6229205	57925871	44605521	169	331											
LINGO1	84894	broad.mit.edu	37	chr15	77907760	77907760	+	Frame_Shift_Del	DEL	A	A	-																															ttgaggttgtacaggtcctgAaacatgtagtccagtaggat																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:77907760delA	ENST00000355300.6	-	2	663	c.489delT	c.(487-489)ttfs	p.F163fs	LINGO1_ENST00000561030.1_Frame_Shift_Del_p.F157fs	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	163					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ACAGGTCCTGAAACATGTAGT	0.552													13	283	---	---	---	---					-	77907760	A	-	77907760	7	5	2	1	0	1	0	1	0	0	0	0	8869	243	9	0	1377	0	LINGO1	15	77907760	Frame_Shift_Del	DEL	A	TCGA-BA-4075-01A-01D-1434-08	19981889	77907760	24623632	170	332											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84651068	84651068	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacttggtgagcagggtccGcagatcctcagtgtccagag	10	8	13	10	1	1	3	1	1	0	2	4	3	4	3	3	2	2	2	3	2	1	1	rs139222116		TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr15:84651068G>T	ENST00000286744.5	+	21	2912	c.2688G>T	c.(2686-2688)ccG>ccT	p.P896P	ADAMTSL3_ENST00000567476.1_Silent_p.P896P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	896	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.P896P(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCAGGGTCCGCAGATCCTCA	0.403													9	97					1.12685e-05	1.26893e-05	1	0	T	84651068	G	T	84651068	2	4	2	1	0	0	0	0	0	0	0	1	276	1074	38	3		3	ADAMTSL3	15	84651068	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08	6743308	84651068	17880324	171	333											
SRRM2	23524	broad.mit.edu	37	chr16	2816271	2816271	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgaagatcccggtcaagAgcatccccagtgagcagaag	13	4	12	12	3	1	4	1	1	0	3	3	6	3	4	3	1	2	2	3	1	3	0			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:2816271A>T	ENST00000301740.8	+	11	6291	c.5742A>T	c.(5740-5742)agA>agT	p.R1914S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1914	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCGGTCAAGAGCATCCCCAG	0.587													4	122					0	0	0	0	T	2816271	A	T	2816271	3	4	2	1	0	0	0	0	1	0	0	0	15259	301	11	5	5780	5	SRRM2	16	2816271	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08		2816271	87538482	172	334											
LITAF	9516	broad.mit.edu	37	chr16	11650451	11650451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaggccccgtcacaagccCcgtagttggcccaggcatgg	8	6	12	15	2	2	0	2	0	0	0	2	0	2	0	5	4	1	3	5	4	2	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:11650451C>T	ENST00000571688.1	-	2	366	c.136G>A	c.(136-138)Ggg>Agg	p.G46R	LITAF_ENST00000381810.3_Missense_Mutation_p.G46R|LITAF_ENST00000576036.1_Missense_Mutation_p.G46R|LITAF_ENST00000570904.1_Missense_Mutation_p.G46R|LITAF_ENST00000574763.1_Missense_Mutation_p.G46R|LITAF_ENST00000413364.2_Missense_Mutation_p.G46R|LITAF_ENST00000574703.1_Missense_Mutation_p.G46R|LITAF_ENST00000339430.5_Missense_Mutation_p.G46R|LITAF_ENST00000571976.1_Missense_Mutation_p.G46R|LITAF_ENST00000571459.1_Missense_Mutation_p.G46R|LITAF_ENST00000572255.1_Intron	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	46					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						GTCACAAGCCCCGTAGTTGGC	0.567													4	106					0	0	0	0	T	11650451	C	T	11650451	3	4	2	1	0	0	0	0	1	0	0	0	8885	623	22	4	447	4	LITAF	16	11650451	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	8834180	11650451	78704302	173	335											
DNAH3	55567	broad.mit.edu	37	chr16	21014470	21014470	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctttggtgatatactGtgtccacgtttcccaatgtc	6	16	7	12	1	1	1	0	1	1	0	5	1	4	1	3	1	1	1	3	1	3	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:21014470G>A	ENST00000261383.3	-	42	6081	c.6082C>T	c.(6082-6084)Cag>Tag	p.Q2028*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2028					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGATATACTGTGTCCACGTT	0.388													64	202					0	0	0	0	A	21014470	G	A	21014470	4	1	2	1	0	0	0	0	0	1	0	0	4640	1386	48	4	6351	4	DNAH3	16	21014470	Nonsense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	9364019	21014470	69340283	174	336											
CENPT	80152	broad.mit.edu	37	chr16	67865119	67865119	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggggaaaacccaaccttacTtggaggagccagggaagtat	14	6	13	8	0	0	0	0	0	0	0	0	4	0	4	3	5	4	1	3	5	6	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:67865119T>A	ENST00000445712.2	-	6	640	c.394A>T	c.(394-396)Agt>Tgt	p.S132C	CENPT_ENST00000564817.1_Splice_Site_p.N235_splice|CENPT_ENST00000219172.3_Splice_Site_p.N235_splice|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000562787.1_Splice_Site_p.N235_splice|CENPT_ENST00000440851.2_Splice_Site_p.N235_splice			Q96BT3	CENPT_HUMAN	centromere protein T	235					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CCAACCTTACTTGGAGGAGCC	0.612													6	283					0	0	0	0	A	67865119	T	A	67865119	3	1	2	1	0	0	0	0	1	0	0	0	3271	1623	56	5	1010	5	CENPT	16	67865119	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	46850649	67865119	22489634	175	337											
TERF2	7014	broad.mit.edu	37	chr16	69419369	69419369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacacggtgtgctccttccCcaagggcctgacaagcaaag	10	6	12	13	1	0	1	0	1	0	0	2	2	2	2	4	3	2	2	4	3	3	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:69419369C>T	ENST00000254942.3	-	2	416	c.400G>A	c.(400-402)Ggg>Agg	p.G134R	TERF2_ENST00000569611.2_5'UTR|TERF2_ENST00000567296.2_Missense_Mutation_p.G134R|TERF2_ENST00000603068.1_Missense_Mutation_p.G92R	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	92	TRFH dimerization.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				TGCTCCTTCCCCAAGGGCCTG	0.587													8	216					0	0	0	0	T	69419369	C	T	69419369	3	4	2	1	0	0	0	0	1	0	0	0	15856	623	22	4	1264	4	TERF2	16	69419369	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	1554250	69419369	20935384	176	338											
ZNF19	7567	broad.mit.edu	37	chr16	71509834	71509834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtgaatcctctggtgccGaattaacgaagaattaccat	13	11	9	8	2	1	2	0	1	1	1	2	4	2	2	3	1	3	0	3	1	6	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:71509834G>A	ENST00000288177.5	-	6	871	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	ZNF19_ENST00000564230.1_Missense_Mutation_p.R206W|ZNF19_ENST00000565100.2_Missense_Mutation_p.R136W|ZNF19_ENST00000565637.1_Missense_Mutation_p.R164W|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	206						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		CTCTGGTGCCGAATTAACGAA	0.443													46	41					0	0	0	0	A	71509834	G	A	71509834	3	1	2	1	0	0	0	0	1	0	0	0	17850	1057	37	1	764	1	ZNF19	16	71509834	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	2090465	71509834	18844919	177	339											
ATP2C2	9914	broad.mit.edu	37	chr16	84492949	84492949	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccctcaacgccatgcagAtcctatggatcaacatcatc	11	8	6	16	1	3	1	3	0	0	1	5	2	4	2	4	1	3	1	4	1	3	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr16:84492949A>G	ENST00000416219.2	+	23	2379	c.2290A>G	c.(2290-2292)Atc>Gtc	p.I764V	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.I764V|RP11-517C16.2_ENST00000565700.1_RNA			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	764					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CGCCATGCAGATCCTATGGAT	0.637													69	122					0	0	0	0	G	84492949	A	G	84492949	3	3	2	1	0	0	0	0	1	0	0	0	1148	333	12	5	2380	5	ATP2C2	16	84492949	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	12983115	84492949	5861804	178	340											
TSR1	55720	broad.mit.edu	37	chr17	2234293	2234293	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaagatgcttttcctaGtgttagtaaagttctgaaac	12	16	7	6	0	1	2	0	1	1	1	2	2	2	2	1	0	2	4	1	0	7	8			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:2234293G>C	ENST00000301364.4	-	9	2686	c.1607C>G	c.(1606-1608)aCt>aGt	p.T536S		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	536					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GCTTTTCCTAGTGTTAGTAAA	0.393													14	130					0	0	0	0	C	2234293	G	C	2234293	3	2	2	1	0	0	0	0	1	0	0	0	16759	1029	36	4	835	4	TSR1	17	2234293	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08		2234293	78960917	179	341											
TP53	7157	broad.mit.edu	37	chr17	7577017	7577017	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttcttgtcctgcttgcttAcctcgcttagtgctccctgg	2	16	9	14	1	1	0	0	0	1	0	4	0	3	0	3	1	4	5	3	1	2	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:7577017A>C	ENST00000420246.2	-	8	1052		c.e8+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(6)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGCTTGCTTACCTCGCTTAG	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			119	66					0	0	0	0	C	7577017	A	C	7577017	5	2	2	1	0	0	0	0	0	0	1	0	16476	405	14	5	365	5	TP53	17	7577017	Splice_Site	SNP	A	TCGA-BA-4075-01A-01D-1434-08	5342724	7577017	73618193	180	342											
KCNAB3	9196	broad.mit.edu	37	chr17	7829006	7829007	+	Frame_Shift_Ins	INS	-	-	T																															cccctaactctcaccctcaaINStgatgtgctttcggcttaaa																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:7829006_7829007insT	ENST00000303790.2	-	7	531_532	c.532_533insA	c.(532-534)tgafs	p.*178fs		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	178						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CTCACCCTCAATGATGTGCTTT	0.5													70	681	---	---	---	---					T	7829007	-	T	7829006	7	5	2	1	0	1	1	0	0	0	0	0	8064	101	4	0	713	0	KCNAB3	17	7829006	Frame_Shift_Ins	INS	-	TCGA-BA-4075-01A-01D-1434-08	251989	7829006	73366204	181	343											
GLP2R	9340	broad.mit.edu	37	chr17	9739771	9739771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctgtaccctgcccttcaTacttaccttggtggagtgaa	7	14	8	12	0	2	1	1	1	1	0	3	2	2	2	3	2	4	1	3	2	4	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:9739771T>C	ENST00000262441.5	+	3	874	c.361T>C	c.(361-363)Tac>Cac	p.Y121H	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	121					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CTGCCCTTCATACTTACCTTG	0.448													96	214					0	0	0	0	C	9739771	T	C	9739771	3	2	2	1	0	0	0	0	1	0	0	0	6504	1406	49	5	371	5	GLP2R	17	9739771	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	1910765	9739771	71455439	182	344											
MYH13	8735	broad.mit.edu	37	chr17	10233707	10233707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagggtctgtgtcacctcCtctccatcatcttcttgaac	6	14	8	13	0	6	2	2	2	4	0	8	2	7	2	3	1	1	0	3	1	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:10233707C>T	ENST00000418404.3	-	20	2595	c.2432G>A	c.(2431-2433)aGg>aAg	p.R811K	MYH13_ENST00000252172.4_Missense_Mutation_p.R811K|MYH13_ENST00000570743.1_Missense_Mutation_p.R811K|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	811	IQ.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTGTCACCTCCTCTCCATCAT	0.537													3	31					0	0	0	0	T	10233707	C	T	10233707	3	4	2	1	0	0	0	0	1	0	0	0	10102	681	24	4	3468	4	MYH13	17	10233707	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	493936	10233707	70961503	183	345											
TTC19	54902	broad.mit.edu	37	chr17	15929998	15929998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtactcagtaatctagctGcagttttgatgcacagaggt	10	13	11	7	0	2	2	1	1	1	1	2	2	2	2	0	2	4	6	0	2	3	5			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:15929998G>A	ENST00000261647.5	+	9	1445	c.976G>A	c.(976-978)Gca>Aca	p.A326T	TTC19_ENST00000486880.2_Missense_Mutation_p.A447T|TTC19_ENST00000497842.2_3'UTR	NM_017775.3	NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	326					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TAATCTAGCTGCAGTTTTGAT	0.428													16	108					0	0	0	0	A	15929998	G	A	15929998	3	1	2	1	0	0	0	0	1	0	0	0	16782	1319	46	4	1373	4	TTC19	17	15929998	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	5696291	15929998	65265212	184	346											
SYNRG	11276	broad.mit.edu	37	chr17	35913812	35913812	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaaaaaggctgaattcTccaaaatcatcagccaaact	16	8	4	13	0	3	1	2	1	1	0	5	1	4	1	4	1	2	1	4	1	6	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:35913812T>A	ENST00000339208.6	-	14	2153	c.2013A>T	c.(2011-2013)ggA>ggT	p.G671G	SYNRG_ENST00000591288.1_Silent_p.G510G|SYNRG_ENST00000502449.2_Silent_p.G593G|SYNRG_ENST00000345615.4_Silent_p.G593G|SYNRG_ENST00000346661.4_Silent_p.G671G|SYNRG_ENST00000394378.2_Silent_p.G593G|SYNRG_ENST00000585472.1_Silent_p.G592G|SYNRG_ENST00000588194.1_5'UTR	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	671	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCTGAATTCTCCAAAATCAT	0.418													66	36					0	0	0	0	A	35913812	T	A	35913812	2	1	2	1	0	0	0	0	0	0	0	1	15551	1538	54	5		5	SYNRG	17	35913812	Silent	SNP	T	TCGA-BA-4075-01A-01D-1434-08	19983814	35913812	45281398	185	347											
RAPGEFL1	51195	broad.mit.edu	37	chr17	38340838	38340838	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcctctctccaggatctAtacctgctaattatgaagga	10	13	6	12	0	2	1	0	1	2	0	6	3	5	3	4	2	2	1	4	2	5	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:38340838A>G	ENST00000436615.3	+	4	613	c.123A>G	c.(121-123)ctA>ctG	p.L41L	RAPGEFL1_ENST00000264644.6_Silent_p.L41L|RAPGEFL1_ENST00000544503.1_Silent_p.L90L|RAPGEFL1_ENST00000456989.2_Silent_p.L96L|RAPGEFL1_ENST00000540388.1_3'UTR	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	247	Gly-rich.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TCCAGGATCTATACCTGCTAA	0.552													3	15					0	0	0	0	G	38340838	A	G	38340838	2	3	2	1	0	0	0	0	0	0	0	1	13131	436	16	5		5	RAPGEFL1	17	38340838	Silent	SNP	A	TCGA-BA-4075-01A-01D-1434-08	2427026	38340838	42854372	186	348											
LUC7L3	51747	broad.mit.edu	37	chr17	48823139	48823139	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagcgtctaaaaaaggagaAgcaagaaagagaagaaagag	22	3	13	3	1	1	6	0	1	1	5	1	8	1	6	0	1	2	1	0	1	8	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:48823139A>T	ENST00000505658.1	+	8	941	c.752A>T	c.(751-753)aAg>aTg	p.K251M	LUC7L3_ENST00000240304.1_Missense_Mutation_p.K251M|LUC7L3_ENST00000393227.2_Missense_Mutation_p.K251M|LUC7L3_ENST00000544170.1_Missense_Mutation_p.K175M			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	251	Arg/Ser-rich.|Glu-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAAAAGGAGaagcaagaaaga	0.373													5	13					0	0	0	0	T	48823139	A	T	48823139	3	4	2	1	0	0	0	0	1	0	0	0	9148	72	3	5	782	5	LUC7L3	17	48823139	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	10482301	48823139	32372071	187	349											
RNF213	57674	broad.mit.edu	37	chr17	78338337	78338337	+	Missense_Mutation	SNP	T	T	A																															ggggctggtgaccgagcacgTcttcttactagacaaggtga																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:78338337T>A	ENST00000582970.1	+	42	11998	c.11855T>A	c.(11854-11856)gTc>gAc	p.V3952D	RNF213_ENST00000508628.2_Missense_Mutation_p.V4001D|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V2025D	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACCGAGCACGTCTTCTTACTA	0.577													13	62					0	0	0	0	A	78338337	T	A	78338337	3	1	2	1	0	0	0	0	1	0	0	0	13562	1667	58	5	12336	5	RNF213	17	78338337	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	29515198	78338337	2856873	188	350	5	2									
RNF213	57674	broad.mit.edu	37	chr17	78338338	78338338	+	Silent	SNP	C	C	T																															gggctggtgaccgagcacgtCttcttactagacaaggtgag																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr17:78338338C>T	ENST00000582970.1	+	42	11999	c.11856C>T	c.(11854-11856)gtC>gtT	p.V3952V	RNF213_ENST00000508628.2_Silent_p.V4001V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.V2025V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCGAGCACGTCTTCTTACTAG	0.577													13	63					0	0	0	0	T	78338338	C	T	78338338	2	4	2	1	0	0	0	0	0	0	0	1	13562	900	32	2		2	RNF213	17	78338338	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	1	78338338	2856872	189	351	5	2									
ASXL3	80816	broad.mit.edu	37	chr18	31323177	31323177	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgagcccatctcttccAgacctctaaagagacccggt	10	8	8	15	2	2	2	0	0	2	2	5	4	3	2	4	1	2	1	4	1	2	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr18:31323177A>G	ENST00000269197.5	+	12	3365	c.3365A>G	c.(3364-3366)cAg>cGg	p.Q1122R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATCTCTTCCAGACCTCTAAA	0.507													3	32					0	0	0	0	G	31323177	A	G	31323177	3	3	2	1	0	0	0	0	1	0	0	0	1072	188	7	5	3411	5	ASXL3	18	31323177	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08		31323177	46754071	190	352											
SERPINB4	6318	broad.mit.edu	37	chr18	61305189	61305189	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggtcatgcctgagaggtCtgcatccccattgaagatat	10	10	10	11	0	2	3	1	2	1	2	3	4	3	3	4	2	2	1	4	2	2	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr18:61305189C>G	ENST00000341074.5	-	8	1052	c.937G>C	c.(937-939)Gac>Cac	p.D313H	SERPINB4_ENST00000356424.6_Missense_Mutation_p.D261H	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CCTGAGAGGTCTGCATCCCCA	0.502													4	73					0	0	0	0	G	61305189	C	G	61305189	3	3	2	1	0	0	0	0	1	0	0	0	14190	913	32	2	239	2	SERPINB4	18	61305189	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	29982012	61305189	16772059	191	353											
ZNF493	284443	broad.mit.edu	37	chr19	21607117	21607117	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgtgaagaatgtggcaaAgcttttaatcggtcctcaca	14	11	9	7	1	1	2	1	1	0	1	3	2	2	2	1	2	1	2	1	2	5	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:21607117A>T	ENST00000392288.2	+	4	1765	c.1656A>T	c.(1654-1656)aaA>aaT	p.K552N	ZNF493_ENST00000355504.4_Missense_Mutation_p.K424N|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AATGTGGCAAAGCTTTTAATC	0.363													15	62					0	0	0	0	T	21607117	A	T	21607117	3	4	2	1	0	0	0	0	1	0	0	0	18039	69	3	5	1733	5	ZNF493	19	21607117	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08		21607117	37521866	192	354											
RYR1	6261	broad.mit.edu	37	chr19	38960132	38960132	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccagtttgagccagtgccCcttgaacaccctcactatga	9	9	7	16	0	1	3	1	3	0	0	1	3	1	3	6	0	3	1	6	0	2	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:38960132C>T	ENST00000355481.4	+	27	3875	c.3744C>T	c.(3742-3744)ccC>ccT	p.P1248P	RYR1_ENST00000359596.3_Silent_p.P1248P|RYR1_ENST00000360985.3_Silent_p.P1248P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1248	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCCAGTGCCCCTTGAACACC	0.552													5	150					0	0	0	0	T	38960132	C	T	38960132	2	4	2	1	0	0	0	0	0	0	0	1	13853	610	22	4		4	RYR1	19	38960132	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	17353015	38960132	20168851	193	355											
ITPKC	80271	broad.mit.edu	37	chr19	41223266	41223267	+	Frame_Shift_Ins	INS	-	-	T																															cgagcctgagagggccggccINStcgggcctgcgccggggaca																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:41223266_41223267insT	ENST00000263370.2	+	1	259_260	c.226_227insT	c.(226-228)cggfs	p.R76fs		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	76						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGGGCCGGCCTCGGGCCTGCG	0.757													7	29	---	---	---	---					T	41223267	-	T	41223266	7	5	2	1	0	1	1	0	0	0	0	0	7972	681	24	0	228	0	ITPKC	19	41223266	Frame_Shift_Ins	INS	-	TCGA-BA-4075-01A-01D-1434-08	2263134	41223266	17905717	194	356											
PSG3	5671	broad.mit.edu	37	chr19	43237075	43237075	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacaactgcaagctgtgAgtcatagggaggctctgacc	10	9	13	9	0	2	2	1	2	1	0	2	4	2	4	1	3	3	3	1	3	3	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:43237075A>T	ENST00000327495.5	-	3	754	c.570T>A	c.(568-570)acT>acA	p.T190T	PSG3_ENST00000595140.1_Silent_p.T190T	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	190	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCAAGCTGTGAGTCATAGGGA	0.502													128	302					0	0	0	0	T	43237075	A	T	43237075	2	4	2	1	0	0	0	0	0	0	0	1	12735	291	11	5		5	PSG3	19	43237075	Silent	SNP	A	TCGA-BA-4075-01A-01D-1434-08	2013809	43237075	15891908	195	357											
CPT1C	126129	broad.mit.edu	37	chr19	50210775	50210775	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgaactctccctgacagCtggtttgacaaatccttcac	10	12	6	13	0	3	3	1	3	2	0	5	3	4	3	2	1	2	2	2	1	2	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:50210775C>T	ENST00000392518.4	+	13	1716	c.1343_splice	c.e13-1	p.R448_splice	CPT1C_ENST00000354199.5_Splice_Site_p.R448_splice|CPT1C_ENST00000598293.1_Splice_Site_p.R448_splice|CPT1C_ENST00000323446.5_Splice_Site_p.R448_splice|CPT1C_ENST00000405931.2_Splice_Site_p.R437_splice	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	448					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TCCCTGACAGCTGGTTTGACA	0.562													4	56					0	0	0	0	T	50210775	C	T	50210775	5	4	2	1	0	0	0	0	0	0	1	0	3863	811	28	4	1386	4	CPT1C	19	50210775	Splice_Site	SNP	C	TCGA-BA-4075-01A-01D-1434-08	6973700	50210775	8918208	196	358											
ZNF417	147687	broad.mit.edu	37	chr19	58420413	58420413	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaatgatttcccacattcCttgcactcatagggcctttc	9	14	5	13	0	1	1	1	1	0	0	4	1	3	1	3	1	1	1	3	1	3	6			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr19:58420413C>T	ENST00000312026.5	-	3	1397	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	ZNF417_ENST00000536263.1_Silent_p.K212K|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Silent_p.K410K	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCCCACATTCCTTGCACTCAT	0.453													6	177					0	0	0	0	T	58420413	C	T	58420413	2	4	2	1	0	0	0	0	0	0	0	1	17989	680	24	4		4	ZNF417	19	58420413	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	8209638	58420413	708570	197	359											
FASTKD5	60493	broad.mit.edu	37	chr20	3128841	3128841	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaggtcctgggatacctgAcgattttcacctataacata	12	13	7	9	1	1	1	1	1	0	0	2	3	2	2	3	2	2	0	3	2	5	7			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr20:3128841A>C	ENST00000380266.3	-	2	1197	c.876T>G	c.(874-876)cgT>cgG	p.R292R	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	292					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GGGATACCTGACGATTTTCAC	0.343													14	150					0	0	0	0	C	3128841	A	C	3128841	2	2	2	1	0	0	0	0	0	0	0	1	5733	262	10	5		5	FASTKD5	20	3128841	Silent	SNP	A	TCGA-BA-4075-01A-01D-1434-08		3128841	59896679	198	360											
NAA20	51126	broad.mit.edu	37	chr20	20013236	20013236	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcagttgggctacagtgtAtataggacggtcatagagta	13	10	13	5	1	1	1	1	0	0	1	1	2	1	2	0	3	2	5	0	3	7	7			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr20:20013236A>T	ENST00000398602.2	+	5	989	c.354A>T	c.(352-354)gtA>gtT	p.V118V	NAA20_ENST00000310450.4_Intron|NAA20_ENST00000334982.4_Silent_p.V130V|NAA20_ENST00000484480.1_3'UTR	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	130	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						GCTACAGTGTATATAGGACGG	0.438													12	62					0	0	0	0	T	20013236	A	T	20013236	2	4	2	1	0	0	0	0	0	0	0	1	10190	436	16	5		5	NAA20	20	20013236	Silent	SNP	A	TCGA-BA-4075-01A-01D-1434-08	16884395	20013236	43012284	199	361											
LBP	3929	broad.mit.edu	37	chr20	37002604	37002604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggccgaaggcttccccCttcctctgctgaagcgtgtt	5	12	11	13	2	1	1	0	1	1	0	3	2	3	1	4	2	2	4	4	2	2	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr20:37002604C>A	ENST00000217407.2	+	14	1509	c.1348C>A	c.(1348-1350)Ctt>Att	p.L450I		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	450					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AGGCTTCCCCCTTCCTCTGCT	0.483													6	181					8.12818e-05	8.9583e-05	1	0	A	37002604	C	A	37002604	3	1	2	1	0	0	0	0	1	0	0	0	8704	681	24	4	1402	4	LBP	20	37002604	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	16989368	37002604	26022916	200	362											
EMILIN3	90187	broad.mit.edu	37	chr20	39990016	39990016	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgggccagcgtacgattCagctggtccacatggctcca	7	9	12	13	2	1	0	1	0	0	0	3	1	3	0	3	3	4	4	3	3	1	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr20:39990016C>T	ENST00000332312.3	-	4	2385	c.2193G>A	c.(2191-2193)ctG>ctA	p.L731L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	731						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCGTACGATTCAGCTGGTCCA	0.687													26	34					0	0	0	0	T	39990016	C	T	39990016	2	4	2	1	0	0	0	0	0	0	0	1	5133	813	29	2		2	EMILIN3	20	39990016	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	2987412	39990016	23035504	201	363											
CLDN17	26285	broad.mit.edu	37	chr21	31538876	31538876	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaagggttgtggcaagagtCcccaccatgccaaggaaccc	12	5	12	12	0	0	2	0	0	0	2	1	3	1	3	5	3	2	2	5	3	4	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr21:31538876C>T	ENST00000286808.3	-	1	95	c.60G>A	c.(58-60)ggG>ggA	p.G20G		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	20					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TGGCAAGAGTCCCCACCATGC	0.478													36	91					0	0	0	0	T	31538876	C	T	31538876	2	4	2	1	0	0	0	0	0	0	0	1	3508	842	30	2		2	CLDN17	21	31538876	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08		31538876	16591019	202	364											
UMODL1	89766	broad.mit.edu	37	chr21	43529775	43529775	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgccgtaccaccagggaCgccaccccctcccgcgcagg	7	3	11	20	4	0	0	0	0	0	0	1	1	1	1	7	2	2	2	7	2	1	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr21:43529775C>T	ENST00000400427.1	+	10	1803	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D	UMODL1_ENST00000408989.2_Silent_p.D541D|UMODL1_ENST00000400424.1_Silent_p.D469D|UMODL1_ENST00000408910.2_Silent_p.D541D	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	541	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCACCAGGGACGCCACCCCCT	0.687													4	47					0	0	0	0	T	43529775	C	T	43529775	2	4	2	1	0	0	0	0	0	0	0	1	17076	535	19	1		1	UMODL1	21	43529775	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	11990899	43529775	4600120	203	365											
CABIN1	23523	broad.mit.edu	37	chr22	24447311	24447311	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgattcacgatgtttcGgtgagtgcagctgagacaca	10	11	12	8	3	1	2	1	2	0	1	3	5	1	2	0	1	2	3	0	1	0	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:24447311G>T	ENST00000398319.2	+	8	1066	c.681G>T	c.(679-681)tcG>tcT	p.S227S	CABIN1_ENST00000263119.5_Silent_p.S227S|CABIN1_ENST00000405822.2_Intron	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	227					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACGATGTTTCGGTGAGTGCAG	0.463													3	106					0.115264	0.117533	1	0	T	24447311	G	T	24447311	2	4	2	1	0	0	0	0	0	0	0	1	2553	1103	39	3		3	CABIN1	22	24447311	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08		24447311	26857255	204	366											
GCAT	23464	broad.mit.edu	37	chr22	38209492	38209492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgaccccagaggacgCagtcctgtcggacgagctga	8	6	13	14	3	0	3	0	2	0	1	2	6	1	5	4	2	2	3	4	2	0	0			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:38209492C>T	ENST00000323205.6	+	4	593	c.530C>T	c.(529-531)gCa>gTa	p.A177V	GCAT_ENST00000415371.1_3'UTR|GCAT_ENST00000248924.6_Missense_Mutation_p.A151V	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	151					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCAGAGGACGCAGTCCTGTCG	0.607													5	14					0	0	0	0	T	38209492	C	T	38209492	3	4	2	1	0	0	0	0	1	0	0	0	6333	710	25	4	544	4	GCAT	22	38209492	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	13762181	38209492	13095074	205	367											
SUN2	25777	broad.mit.edu	37	chr22	39141797	39141797	+	Frame_Shift_Del	DEL	G	G	-																															tggaatgtctgcagcccataGgggtagaaataccaagcacc																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:39141797delG	ENST00000405510.1	-	9	1063	c.705delC	c.(703-705)ccfs	p.P235fs	SUN2_ENST00000406622.1_Frame_Shift_Del_p.P235fs|SUN2_ENST00000216064.4_Frame_Shift_Del_p.P235fs|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000405018.1_Frame_Shift_Del_p.P256fs|SUN2_ENST00000411587.2_Frame_Shift_Del_p.P224fs	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	235					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GCAGCCCATAGGGGTAGAAAT	0.622													21	39	---	---	---	---					-	39141797	G	-	39141797	7	5	2	1	0	1	0	1	0	0	0	0	15482	987	35	0	1492	0	SUN2	22	39141797	Frame_Shift_Del	DEL	G	TCGA-BA-4075-01A-01D-1434-08	932305	39141797	12162769	206	368											
TNRC6B	23112	broad.mit.edu	37	chr22	40660900	40660900	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgataacaacagtgcctcGaaccctggctctgagaagag	13	6	10	12	2	1	2	0	1	1	2	2	5	1	2	3	1	4	1	3	1	4	1			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:40660900G>A	ENST00000454349.2	+	5	877	c.666G>A	c.(664-666)tcG>tcA	p.S222S	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Silent_p.S222S|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	222					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ACAGTGCCTCGAACCCTGGCT	0.498													55	105					0	0	0	0	A	40660900	G	A	40660900	2	1	2	1	0	0	0	0	0	0	0	1	16435	1045	37	1		1	TNRC6B	22	40660900	Silent	SNP	G	TCGA-BA-4075-01A-01D-1434-08	1519103	40660900	10643666	207	369											
EP300	2033	broad.mit.edu	37	chr22	41545804	41545804	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgcccggtgaactctcctAtaatgcctccagggtctcag	7	10	9	15	1	2	1	1	1	2	0	5	1	3	1	5	2	3	0	5	2	3	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:41545804A>G	ENST00000263253.7	+	14	3638	c.2419A>G	c.(2419-2421)Ata>Gta	p.I807V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	807					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAACTCTCCTATAATGCCTCC	0.458			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				21	50					0	0	0	0	G	41545804	A	G	41545804	3	3	2	1	0	0	0	0	1	0	0	0	5186	449	16	5	2473	5	EP300	22	41545804	Missense_Mutation	SNP	A	TCGA-BA-4075-01A-01D-1434-08	884904	41545804	9758762	208	370											
NUP50	10762	broad.mit.edu	37	chr22	45579372	45579372	+	Frame_Shift_Del	DEL	A	A	-																															tacagcaaatcagaagacacAgcttttggtgcgggcagaca																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chr22:45579372delA	ENST00000347635.3	+	7	1641	c.1175delA	c.(1174-1176)cgfs	p.Q392fs	NUP50_ENST00000407019.2_Frame_Shift_Del_p.Q364fs|NUP50_ENST00000396096.2_Frame_Shift_Del_p.Q364fs|NUP50_ENST00000425733.2_Frame_Shift_Del_p.Q142fs	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	392	RanBD1.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAGAAGACACAGCTTTTGGTG	0.383													34	84	---	---	---	---					-	45579372	A	-	45579372	7	5	2	1	0	1	0	1	0	0	0	0	10837	188	7	0	1197	0	NUP50	22	45579372	Frame_Shift_Del	DEL	A	TCGA-BA-4075-01A-01D-1434-08	4033568	45579372	5725194	209	371											
SH3KBP1	30011	broad.mit.edu	37	chrX	19555888	19555888	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caactcagacaataactgttTaatctctcgtctgaaaagca	15	11	5	10	1	3	2	1	1	2	1	5	2	3	2	0	0	3	2	0	0	6	3			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chrX:19555888T>G	ENST00000397821.3	-	17	2193	c.1903A>C	c.(1903-1905)Aaa>Caa	p.K635Q	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.K374Q|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.K598Q|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.K397Q	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	635					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						AATAACTGTTTAATCTCTCGT	0.438													61	27					0	0	0	0	G	19555888	T	G	19555888	3	3	2	1	0	0	0	0	1	0	0	0	14343	1763	61	5	102	5	SH3KBP1	23	19555888	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08		19555888	135714672	210	372											
FAM120C	54954	broad.mit.edu	37	chrX	54209176	54209176	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggcacaagcctggcacagCgctgacaagtagcccagcat	12	5	11	13	1	0	1	0	1	0	0	0	1	0	1	2	2	4	5	2	2	4	2			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chrX:54209176C>G	ENST00000375180.2	-	1	512	c.456G>C	c.(454-456)gcG>gcC	p.A152A	FAM120C_ENST00000477084.1_Silent_p.A152A|FAM120C_ENST00000328235.4_Silent_p.A152A|FAM120C_ENST00000497680.1_5'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	152										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCTGGCACAGCGCTGACAAGT	0.697													3	15					0	0	0	0	G	54209176	C	G	54209176	2	3	2	1	0	0	0	0	0	0	0	1	5459	755	27	3		3	FAM120C	23	54209176	Silent	SNP	C	TCGA-BA-4075-01A-01D-1434-08	34653288	54209176	101061384	211	373											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298829	125298829	+	Missense_Mutation	SNP	T	T	A																															tgcccacagtgatgatgtgcTggtagaagctcagcgaccgc																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chrX:125298829T>A	ENST00000538699.1	-	2	1159	c.1079A>T	c.(1078-1080)cAg>cTg	p.Q360L	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.Q360L	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	360										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GATGATGTGCTGGTAGAAGCT	0.637													12	85					0	0	0	0	A	125298829	T	A	125298829	3	1	2	1	0	0	0	0	1	0	0	0	4298	1580	55	5	316	5	DCAF12L2	23	125298829	Missense_Mutation	SNP	T	TCGA-BA-4075-01A-01D-1434-08	71089653	125298829	29971731	212	374	6	2									
DCAF12L2	340578	broad.mit.edu	37	chrX	125298830	125298830	+	Missense_Mutation	SNP	G	G	T																															gcccacagtgatgatgtgctGgtagaagctcagcgaccgca																										TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chrX:125298830G>T	ENST00000538699.1	-	2	1158	c.1078C>A	c.(1078-1080)Cag>Aag	p.Q360K	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.Q360K	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	360										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATGATGTGCTGGTAGAAGCTC	0.637													12	83					3.07112e-06	3.48868e-06	1	0	T	125298830	G	T	125298830	3	4	2	1	0	0	0	0	1	0	0	0	4298	1357	47	4	317	4	DCAF12L2	23	125298830	Missense_Mutation	SNP	G	TCGA-BA-4075-01A-01D-1434-08	1	125298830	29971730	213	375	6	2									
ZNF75D	7626	broad.mit.edu	37	chrX	134427679	134427679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attctttgttccatcaggctCcctctgcaagaattccacca	9	13	5	14	0	3	1	1	0	2	1	6	1	6	1	4	1	1	3	4	1	2	4			TCGA-BA-4075-01A-01D-1434-08	TCGA-BA-4075-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b3fec35-d127-4cb5-859b-edac003acdf3	5e8d7595-2397-40ce-8c2e-63b352605fe6	g.chrX:134427679C>G	ENST00000370766.3	-	3	3097	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	ZNF75D_ENST00000370764.1_Missense_Mutation_p.E130Q|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	130	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CCATCAGGCTCCCTCTGCAAG	0.453													56	34					0	0	0	0	G	134427679	C	G	134427679	3	3	2	1	0	0	0	0	1	0	0	0	18228	864	30	2	1164	2	ZNF75D	23	134427679	Missense_Mutation	SNP	C	TCGA-BA-4075-01A-01D-1434-08	9128849	134427679	20842881	214	376											
MEGF6	1953	broad.mit.edu	37	chr1	3512006	3512006	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtagcccatgtagtagAcggttctagaaagaaagaga	14	8	12	7	1	1	4	0	0	1	4	1	5	1	4	2	1	1	4	2	1	6	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:3512006A>T	ENST00000356575.4	-	3	498	c.272T>A	c.(271-273)gTc>gAc	p.V91D		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	91	EMI.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CATGTAGTAGACGGTTCTAGA	0.617													23	49					0	0	0	0	T	3512006	A	T	3512006	3	4	3	1	0	0	0	0	1	0	0	0	9531	275	10	5	4493	5	MEGF6	1	3512006	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08		3512006	245738615	1	377											
VPS13D	55187	broad.mit.edu	37	chr1	12557603	12557603	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgctgcacggggccccagGggctgcttccccgatattct	4	10	13	14	2	1	0	0	0	1	0	2	1	2	0	4	4	3	5	4	4	1	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:12557603G>C	ENST00000358136.3	+	68	12842	c.12712G>C	c.(12712-12714)Ggg>Cgg	p.G4238R	VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000543710.1_Missense_Mutation_p.G42R|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.G4213R|VPS13D_ENST00000543766.1_Missense_Mutation_p.G236R	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4237					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGGGCCCCAGGGGCTGCTTCC	0.517													42	84					0	0	0	0	C	12557603	G	C	12557603	3	2	3	1	0	0	0	0	1	0	0	0	17288	1232	43	4	12978	4	VPS13D	1	12557603	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	9045597	12557603	236693018	2	378											
CELA2A	63036	broad.mit.edu	37	chr1	15788127	15788127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccctgatagccaacagctgGgtcctgacggctgcccactg	7	8	11	15	1	0	2	0	2	0	0	2	2	2	2	4	2	4	2	4	2	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:15788127G>T	ENST00000359621.4	+	3	226	c.201G>T	c.(199-201)tgG>tgT	p.W67C		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	67	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CCAACAGCTGGGTCCTGACGG	0.607													51	100					4.25531e-23	5.33911e-23	1	0	T	15788127	G	T	15788127	3	4	3	1	0	0	0	0	1	0	0	0	3240	1241	43	4	211	4	CELA2A	1	15788127	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	3230524	15788127	233462494	3	379											
HSPG2	3339	broad.mit.edu	37	chr1	22168731	22168731	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcatctgccatactcaCggtaggaagacccctcactg	10	8	9	14	1	3	1	2	0	1	1	3	2	3	2	3	3	2	2	3	3	3	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:22168731C>A	ENST00000374695.3	-	68	9132		c.e68+1			NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.?(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCCATACTCACGGTAGGAAGA	0.652													25	37					2.39556e-15	2.76821e-15	1	0	A	22168731	C	A	22168731	5	1	3	1	0	0	0	0	0	0	1	0	7483	550	19	3	4242	3	HSPG2	1	22168731	Splice_Site	SNP	C	TCGA-BA-4076-01A-01D-1434-08	6380604	22168731	227081890	4	380											
IQCC	55721	broad.mit.edu	37	chr1	32672224	32672224	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggccacctgggaggagAtggtgctgaagaagtcagga	12	5	18	6	0	1	4	1	1	0	3	1	8	1	6	2	5	1	1	2	5	2	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:32672224A>C	ENST00000537469.1	+	3	588	c.541A>C	c.(541-543)Atg>Ctg	p.M181L	RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000291358.6_Missense_Mutation_p.M101L	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	101										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGGGAGGAGATGGTGCTGAA	0.547													56	77					0	0	0	0	C	32672224	A	C	32672224	3	2	3	1	0	0	0	0	1	0	0	0	7857	333	12	5	551	5	IQCC	1	32672224	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	10503493	32672224	216578397	5	381											
CSMD2	114784	broad.mit.edu	37	chr1	34180272	34180272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctccagacggtacccGgggaagcaggagaaggtcaa	11	4	15	11	2	1	2	1	0	0	2	2	4	2	3	3	5	3	2	3	5	4	1	rs145807635		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:34180272G>A	ENST00000373381.4	-	21	3497	c.3321C>T	c.(3319-3321)ccC>ccT	p.P1107P		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1067	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACGGTACCCGGGGAAGCAGG	0.662													96	122					0	0	0	0	A	34180272	G	A	34180272	2	1	3	1	0	0	0	0	0	0	0	1	3977	1103	39	1		1	CSMD2	1	34180272	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	1508048	34180272	215070349	6	382											
TIE1	7075	broad.mit.edu	37	chr1	43774729	43774729	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgatgccccggatcaactGtgcagctgcagggaacccct	9	6	12	14	2	1	0	1	0	0	0	1	4	1	2	4	2	6	3	4	2	2	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:43774729G>C	ENST00000372476.3	+	8	1194	c.1115G>C	c.(1114-1116)tGt>tCt	p.C372S	TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_Missense_Mutation_p.C17S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	372	Ig-like C2-type 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGATCAACTGTGCAGCTGCA	0.607													37	75					0	0	0	0	C	43774729	G	C	43774729	3	2	3	1	0	0	0	0	1	0	0	0	15987	1377	48	4	1145	4	TIE1	1	43774729	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	9594457	43774729	205475892	7	383											
EIF2B3	8891	broad.mit.edu	37	chr1	45407189	45407189	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccttacctgctttttttTtccccttttgaccgggaaca	5	18	5	13	1	0	1	0	1	0	0	2	2	2	2	5	1	3	1	5	1	2	8			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:45407189T>G	ENST00000360403.2	-	4	569	c.443A>C	c.(442-444)aAa>aCa	p.K148T	EIF2B3_ENST00000372183.3_Missense_Mutation_p.K148T|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	148					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGCTTTTTTTTTCCCCTTTTG	0.368													78	110					0	0	0	0	G	45407189	T	G	45407189	3	3	3	1	0	0	0	0	1	0	0	0	5038	1841	64	5	988	5	EIF2B3	1	45407189	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	1632460	45407189	203843432	8	384											
ZFYVE9	9372	broad.mit.edu	37	chr1	52705124	52705124	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctcagagctggtcagtttGgaatttctgccagaaagcca	11	11	10	9	0	3	2	2	0	2	2	4	3	3	3	2	2	3	2	2	2	2	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:52705124G>T	ENST00000287727.3	+	4	2207	c.2035G>T	c.(2035-2037)Gga>Tga	p.G679*	ZFYVE9_ENST00000361625.1_Nonsense_Mutation_p.G679*|ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.G679*|ZFYVE9_ENST00000371591.1_Nonsense_Mutation_p.G679*	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	679					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGGTCAGTTTGGAATTTCTGC	0.478													78	123					1.13027e-35	1.5743e-35	1	0	T	52705124	G	T	52705124	4	4	3	1	0	0	0	0	0	1	0	0	17766	1349	47	4	2041	4	ZFYVE9	1	52705124	Nonsense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	7297935	52705124	196545497	9	385											
C1orf168	199920	broad.mit.edu	37	chr1	57258099	57258099	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctattggccaccattacTttttccttagtgattatctc	9	17	5	10	0	1	1	0	1	1	0	3	1	2	1	3	1	2	1	3	1	5	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:57258099T>C	ENST00000343433.6	-	2	467	c.387A>G	c.(385-387)aaA>aaG	p.K129K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	129										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						CCACCATTACTTTTTCCTTAG	0.418													116	176					0	0	0	0	C	57258099	T	C	57258099	2	2	3	1	0	0	0	0	0	0	0	1	2031	1606	56	5		5	C1orf168	1	57258099	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08	4552975	57258099	191992522	10	386											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507186	74507186	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaactgttctgaattgtctCtttattttcttcaattagtt	9	22	4	6	0	4	1	1	1	3	0	5	1	4	1	0	0	1	2	0	0	6	10			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:74507186C>A	ENST00000354431.4	-	7	1620	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.E477*	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	477										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGAATTGTCTCTTTATTTTCT	0.338													84	136					7.63117e-38	1.06928e-37	1	0	A	74507186	C	A	74507186	4	1	3	1	0	0	0	0	0	1	0	0	9094	922	32	2	453	2	LRRIQ3	1	74507186	Nonsense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	17249087	74507186	174743435	11	387											
C1orf173	127254	broad.mit.edu	37	chr1	75078365	75078365	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtagcctcgtttgcctcCaagcctggaacctttccgat	9	11	8	13	2	0	0	0	0	0	0	3	2	2	1	6	1	4	2	6	1	4	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:75078365C>A	ENST00000326665.5	-	9	1347	c.1129G>T	c.(1129-1131)Gga>Tga	p.G377*	C1orf173_ENST00000420661.2_Nonsense_Mutation_p.G180*|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	377										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						CGTTTGCCTCCAAGCCTGGAA	0.458													28	53					3.73148e-12	4.13823e-12	1	0	A	75078365	C	A	75078365	4	1	3	1	0	0	0	0	0	1	0	0	2033	603	21	4	3487	4	C1orf173	1	75078365	Nonsense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	571179	75078365	174172256	12	388											
ACADM	34	broad.mit.edu	37	chr1	76211507	76211507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtattttttattggcaCgttctgatccagatcctaaa	10	17	7	7	1	1	2	0	1	1	1	3	2	3	2	2	2	0	3	2	2	5	8			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:76211507C>T	ENST00000370841.4	+	8	1053	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	ACADM_ENST00000420607.2_Missense_Mutation_p.R210C|ACADM_ENST00000370834.5_Missense_Mutation_p.R239C|ACADM_ENST00000543667.1_Missense_Mutation_p.R17C|ACADM_ENST00000541113.1_Missense_Mutation_p.R170C	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	206			R -> L (in ACADMD).		carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						TTTATTGGCACGTTCTGATCC	0.383													43	81					0	0	0	0	T	76211507	C	T	76211507	3	4	3	1	0	0	0	0	1	0	0	0	113	536	19	1	658	1	ACADM	1	76211507	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	1133142	76211507	173039114	13	389											
MSH4	4438	broad.mit.edu	37	chr1	76365379	76365379	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcacaactcaaattacGagacaaattttggtaagaaa	20	9	6	6	1	2	2	2	0	0	2	2	4	2	2	0	1	2	1	0	1	7	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:76365379G>T	ENST00000263187.3	+	19	2711	c.2607G>T	c.(2605-2607)acG>acT	p.T869T		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	869					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTCAAATTACGAGACAAATTT	0.279								Mismatch excision repair (MMR)					49	57					2.43468e-25	3.1132e-25	1	0	T	76365379	G	T	76365379	2	4	3	1	0	0	0	0	0	0	0	1	9942	1045	37	3		3	MSH4	1	76365379	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	153872	76365379	172885242	14	390											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76877870	76877870	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgattcgagttgtgtcccatAccagcgttcctcttttgcta	6	16	8	11	2	1	1	0	1	1	0	4	2	3	1	3	0	3	3	3	0	2	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:76877870A>T	ENST00000328299.3	+	3	539	c.391A>T	c.(391-393)Acc>Tcc	p.T131S	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	131					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGTGTCCCATACCAGCGTTCC	0.423													69	75					0	0	0	0	T	76877870	A	T	76877870	3	4	3	1	0	0	0	0	1	0	0	0	15315	391	14	5	401	5	ST6GALNAC3	1	76877870	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	512491	76877870	172372751	15	391											
DPYD	1806	broad.mit.edu	37	chr1	97658799	97658799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgattctgaatggcactGcatacctagaaaagacagag	14	9	9	9	0	1	5	0	2	1	3	2	5	2	5	2	1	2	2	2	1	5	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:97658799G>A	ENST00000370192.3	-	20	2548	c.2448C>T	c.(2446-2448)tgC>tgT	p.C816C	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	816					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GAATGGCACTGCATACCTAGA	0.388													14	26					0	0	0	0	A	97658799	G	A	97658799	2	1	3	1	0	0	0	0	0	0	0	1	4781	1311	46	4		4	DPYD	1	97658799	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	20780929	97658799	151591822	16	392											
VCAM1	7412	broad.mit.edu	37	chr1	101197026	101197026	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agttacatattgatgacatgGaattcgaacccaaacaaagg	17	9	8	7	1	0	2	0	2	0	0	1	4	0	3	1	2	3	1	1	2	6	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:101197026G>C	ENST00000294728.2	+	6	1578	c.1477G>C	c.(1477-1479)Gaa>Caa	p.E493Q	VCAM1_ENST00000347652.2_Missense_Mutation_p.E401Q|VCAM1_ENST00000370119.4_Missense_Mutation_p.E431Q|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	493	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TGATGACATGGAATTCGAACC	0.373													37	70					0	0	0	0	C	101197026	G	C	101197026	3	2	3	1	0	0	0	0	1	0	0	0	17233	1175	41	2	1499	2	VCAM1	1	101197026	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	3538227	101197026	148053595	17	393											
COL11A1	1301	broad.mit.edu	37	chr1	103431074	103431074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactccccctggcccaggaGggccggtcttgccttgaaat	6	8	11	16	1	1	1	0	1	1	0	2	2	2	2	6	4	1	0	6	4	1	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:103431074G>T	ENST00000358392.2	-	38	3238	c.2921C>A	c.(2920-2922)cCt>cAt	p.P974H	COL11A1_ENST00000370096.3_Missense_Mutation_p.P962H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P846H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P923H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	962	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGCCCAGGAGGGCCGGTCTT	0.388													80	158					3.24273e-39	4.59878e-39	1	0	T	103431074	G	T	103431074	3	4	3	1	0	0	0	0	1	0	0	0	3697	1000	35	4	2655	4	COL11A1	1	103431074	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	2234048	103431074	145819547	18	394											
SYPL2	284612	broad.mit.edu	37	chr1	110022063	110022063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtttgtgttcaaggagaccCcgtggcatggacagggccag	8	8	16	9	1	1	1	1	0	0	1	1	3	1	2	3	5	0	3	3	5	1	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:110022063C>A	ENST00000369872.3	+	6	928	c.712C>A	c.(712-714)Ccg>Acg	p.P238T	SYPL2_ENST00000401021.3_Missense_Mutation_p.P174T	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	238	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CAAGGAGACCCCGTGGCATGG	0.577													37	85					9.45814e-24	1.1931e-23	1	0	A	110022063	C	A	110022063	3	1	3	1	0	0	0	0	1	0	0	0	15554	623	22	4	734	4	SYPL2	1	110022063	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	6590989	110022063	139228558	19	395											
ADORA3	140	broad.mit.edu	37	chr1	112028408	112028408	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttggtcaaatgactgatTacagagatgattcccaaacc	13	12	7	9	0	1	4	1	3	0	1	2	5	2	4	2	1	2	0	2	1	3	4	rs145936359		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:112028408T>G	ENST00000369716.4	-	5	1060	c.927A>C	c.(925-927)gtA>gtC	p.V309V	ADORA3_ENST00000369717.4_Silent_p.V228V	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AATGACTGATTACAGAGATGA	0.433													57	68					0	0	0	0	G	112028408	T	G	112028408	2	3	3	1	0	0	0	0	0	0	0	1	329	1741	61	5		5	ADORA3	1	112028408	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08	2006345	112028408	137222213	20	396											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273312	145273312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtgccgatgtgcctcaGggtttacaggagaggactgc	8	8	14	11	2	1	1	1	0	0	1	1	4	1	2	3	3	4	1	3	3	1	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:145273312G>C	ENST00000369340.3	+	4	610	c.166G>C	c.(166-168)Ggg>Cgg	p.G56R	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G56R|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G56R|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G56R			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	56	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						ATGTGCCTCAGGGTTTACAGG	0.567													55	414					0	0	0	0	C	145273312	G	C	145273312	3	2	3	1	0	0	0	0	1	0	0	0	10619	1000	35	4	172	4	NOTCH2NL	1	145273312	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	33244904	145273312	103977309	21	397											
PRUNE	58497	broad.mit.edu	37	chr1	151001309	151001309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagatctccatgctttctgCcaggctcacagctatgatgt	8	12	9	12	0	3	2	1	1	2	1	4	2	3	2	2	1	3	4	2	1	1	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:151001309C>T	ENST00000271620.3	+	7	978	c.822C>T	c.(820-822)tgC>tgT	p.C274C	PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368936.1_Silent_p.C92C|PRUNE_ENST00000368934.1_Intron|PRUNE_ENST00000271619.8_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	274						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGCTTTCTGCCAGGCTCACA	0.483													4	167					0	0	0	0	T	151001309	C	T	151001309	2	4	3	1	0	0	0	0	0	0	0	1	12719	747	26	4		4	PRUNE	1	151001309	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	5727997	151001309	98249312	22	398											
IVL	3713	broad.mit.edu	37	chr1	152883976	152883976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggagaagtattgcttcCtgtagagcaccagcagcaga	14	7	12	8	0	0	3	0	0	0	3	1	4	1	3	2	1	4	6	2	1	4	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:152883976C>A	ENST00000368764.3	+	2	1767	c.1703C>A	c.(1702-1704)cCt>cAt	p.P568H	IVL_ENST00000392667.2_Missense_Mutation_p.P422H			P07476	INVO_HUMAN	involucrin	568					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTATTGCTTCCTGTAGAGCAC	0.572													65	87					4.66136e-34	6.39741e-34	1	0	A	152883976	C	A	152883976	3	1	3	1	0	0	0	0	1	0	0	0	7982	681	24	4	1705	4	IVL	1	152883976	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	1882667	152883976	96366645	23	399											
PEX19	5824	broad.mit.edu	37	chr1	160249948	160249948	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcctcaaactgctcacatAttttgcacatgacgctgtgc	9	12	7	13	1	2	1	2	1	0	0	2	1	2	1	1	0	5	3	1	0	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:160249948A>G	ENST00000368072.5	-	6	704	c.683T>C	c.(682-684)aTa>aCa	p.I228T	DCAF8_ENST00000556710.1_Missense_Mutation_p.I81T|PEX19_ENST00000440949.3_Missense_Mutation_p.I138T|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCTCACATATTTTGCACAT	0.468													137	208					0	0	0	0	G	160249948	A	G	160249948	3	3	3	1	0	0	0	0	1	0	0	0	11816	449	16	5	228	5	PEX19	1	160249948	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	7365972	160249948	89000673	24	400											
LMX1A	4009	broad.mit.edu	37	chr1	165218667	165218667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtctgaggctgctgggctCaccaggctgagcagctcccg	6	7	15	13	1	2	2	1	2	1	0	3	3	3	2	2	3	3	6	2	3	0	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:165218667C>T	ENST00000342310.3	-	4	856	c.474G>A	c.(472-474)gtG>gtA	p.V158V	LMX1A_ENST00000367893.4_Silent_p.V158V|LMX1A_ENST00000294816.2_Silent_p.V158V	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGGGCTCACCAGGCTGA	0.612													21	67					0	0	0	0	T	165218667	C	T	165218667	2	4	3	1	0	0	0	0	0	0	0	1	8916	813	29	2		2	LMX1A	1	165218667	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	4968719	165218667	84031954	25	401											
F5	2153	broad.mit.edu	37	chr1	169510646	169510646	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctggagaaatgggcatctGaccgagggctggggaaaggt	10	7	18	6	1	2	2	0	1	2	1	2	5	2	3	1	6	0	2	1	6	2	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:169510646G>A	ENST00000367796.3	-	13	3898	c.3697C>T	c.(3697-3699)Cag>Tag	p.Q1233*	F5_ENST00000367797.3_Nonsense_Mutation_p.Q1228*			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1228	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATGGGCATCTGACCGAGGGCT	0.527													177	243					0	0	0	0	A	169510646	G	A	169510646	4	1	3	1	0	0	0	0	0	1	0	0	5386	1299	45	2	3044	2	F5	1	169510646	Nonsense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	4291979	169510646	79739975	26	402											
SELL	6402	broad.mit.edu	37	chr1	169672410	169672410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcactttgacatattggaCtaggatttgaccagattcca	12	13	7	9	0	1	3	1	2	0	1	2	5	2	5	2	2	0	0	2	2	2	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:169672410C>G	ENST00000236147.4	-	6	1137	c.977G>C	c.(976-978)aGt>aCt	p.S326T	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	313					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					ACATATTGGACTAGGATTTGA	0.383													12	20					0	0	0	0	G	169672410	C	G	169672410	3	3	3	1	0	0	0	0	1	0	0	0	14103	565	20	4	196	4	SELL	1	169672410	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	161764	169672410	79578211	27	403											
ANKRD45	339416	broad.mit.edu	37	chr1	173579330	173579330	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttctggtcatggcttgttAcagatttggcacttttcact	6	18	8	9	0	4	1	2	0	2	1	4	1	4	1	0	3	1	3	0	3	1	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:173579330A>G	ENST00000333279.2	-	6	815	c.755T>C	c.(754-756)gTa>gCa	p.V252A	RP3-436N22.3_ENST00000431459.1_RNA	NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	268										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						ATGGCTTGTTACAGATTTGGC	0.338													54	113					0	0	0	0	G	173579330	A	G	173579330	3	3	3	1	0	0	0	0	1	0	0	0	672	391	14	5	49	5	ANKRD45	1	173579330	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	3906920	173579330	75671291	28	404											
NPHS2	7827	broad.mit.edu	37	chr1	179533895	179533895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaatgaggacaagaagcCactcacaggcccctaagccg	14	3	12	12	1	1	2	1	1	0	1	1	4	1	4	4	3	2	0	4	3	4	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:179533895C>A	ENST00000367615.4	-	2	376	c.308G>T	c.(307-309)tGg>tTg	p.W103L	NPHS2_ENST00000367616.4_Missense_Mutation_p.W103L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	103					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GACAAGAAGCCACTCACAGGC	0.403													28	40					8.24728e-16	9.57749e-16	1	0	A	179533895	C	A	179533895	3	1	3	1	0	0	0	0	1	0	0	0	10653	595	21	4	871	4	NPHS2	1	179533895	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	5954565	179533895	69716726	29	405											
RGS21	431704	broad.mit.edu	37	chr1	192321323	192321323	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttattctgaattcattGaagctgatgcacctaaagag	13	14	8	6	0	2	5	1	4	1	1	2	5	2	5	1	0	2	2	1	0	5	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:192321323G>T	ENST00000417209.2	+	4	409	c.235G>T	c.(235-237)Gaa>Taa	p.E79*		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	79	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TGAATTCATTGAAGCTGATGC	0.383													14	34					2.32078e-09	2.5026e-09	1	0	T	192321323	G	T	192321323	4	4	3	1	0	0	0	0	0	1	0	0	13387	1291	45	2	245	2	RGS21	1	192321323	Nonsense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	12787428	192321323	56929298	30	406											
CFHR5	81494	broad.mit.edu	37	chr1	196965026	196965026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacaactttacccacttgtGttggtaaataaatattaaca	15	13	6	7	0	0	0	0	0	0	0	0	1	0	1	1	2	3	2	1	2	8	8			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:196965026G>A	ENST00000367414.5	+	5	915	c.859G>A	c.(859-861)Gtt>Att	p.V287I	CFHR5_ENST00000256785.4_Missense_Mutation_p.V263I	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	263	Sushi 5.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCCACTTGTGTTGGTAAATA	0.289													28	35					0	0	0	0	A	196965026	G	A	196965026	3	1	3	1	0	0	0	0	1	0	0	0	3317	1377	48	4	805	4	CFHR5	1	196965026	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	4643703	196965026	52285595	31	407											
PFKFB2	5208	broad.mit.edu	37	chr1	207235301	207235301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcatttccttctagcatGggcctcctacatgaccaact	8	14	6	13	0	2	1	1	1	1	0	4	1	4	1	4	1	3	2	4	1	3	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:207235301G>T	ENST00000367080.3	+	3	213	c.89G>T	c.(88-90)tGg>tTg	p.W30L	PFKFB2_ENST00000367079.2_Missense_Mutation_p.W30L|PFKFB2_ENST00000411990.2_5'UTR|PFKFB2_ENST00000545806.1_5'UTR	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	30	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CTTCTAGCATGGGCCTCCTAC	0.443													54	107					5.10652e-33	6.92711e-33	1	0	T	207235301	G	T	207235301	3	4	3	1	0	0	0	0	1	0	0	0	11833	1357	47	4	95	4	PFKFB2	1	207235301	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	10270275	207235301	42015320	32	408											
USH2A	7399	broad.mit.edu	37	chr1	215931940	215931940	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcttttttttttttacctgGtggtatccaagctacaaata	9	20	5	7	0	1	0	0	0	1	0	2	0	2	0	2	2	3	2	2	2	6	10			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:215931940G>C	ENST00000366943.2	-	58	11772	c.11386C>G	c.(11386-11388)Cca>Gca	p.P3796A	USH2A_ENST00000307340.3_Missense_Mutation_p.P3796A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3796	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTTTACCTGGTGGTATCCAA	0.299										HNSCC(13;0.011)			60	92					0	0	0	0	C	215931940	G	C	215931940	3	2	3	1	0	0	0	0	1	0	0	0	17132	1261	44	4	4282	4	USH2A	1	215931940	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	8696639	215931940	33318681	33	409											
USH2A	7399	broad.mit.edu	37	chr1	216373451	216373451	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacaggtctgtgtctaagAagtattgaatacctgaaatg	14	12	10	5	0	2	3	0	2	2	1	2	3	2	3	1	1	2	2	1	1	7	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:216373451A>G	ENST00000366943.2	-	17	3715	c.3329T>C	c.(3328-3330)tTc>tCc	p.F1110S	USH2A_ENST00000366942.3_Missense_Mutation_p.F1110S|USH2A_ENST00000307340.3_Missense_Mutation_p.F1110S|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1110	Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTGTCTAAGAAGTATTGAAT	0.328										HNSCC(13;0.011)			29	46					0	0	0	0	G	216373451	A	G	216373451	3	3	3	1	0	0	0	0	1	0	0	0	17132	246	9	5	12517	5	USH2A	1	216373451	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	441511	216373451	32877170	34	410											
LEFTY2	7044	broad.mit.edu	37	chr1	226127684	226127684	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgctggcctccgacgccAggaacctgccggccacctct	5	7	12	17	3	1	0	0	0	1	0	2	2	2	1	7	3	3	1	7	3	1	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:226127684A>T	ENST00000366820.5	-	2	617	c.269T>A	c.(268-270)cTg>cAg	p.L90Q	LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Missense_Mutation_p.L90Q	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	90					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CTCCGACGCCAGGAACCTGCC	0.697													9	18					0	0	0	0	T	226127684	A	T	226127684	3	4	3	1	0	0	0	0	1	0	0	0	8769	188	7	5	843	5	LEFTY2	1	226127684	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	9754233	226127684	23122937	35	411											
PGBD5	79605	broad.mit.edu	37	chr1	230472906	230472906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgatgctgggccccgtGaaaatgatgtagttcttgcc	7	12	13	9	1	1	3	0	3	1	0	1	3	1	3	3	2	2	3	3	2	3	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:230472906G>T	ENST00000321327.2	-	6	1112	c.1113C>A	c.(1111-1113)ttC>ttA	p.F371L	PGBD5_ENST00000391860.1_Missense_Mutation_p.F226L|PGBD5_ENST00000525115.1_Missense_Mutation_p.F272L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	272						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGGGCCCCGTGAAAATGATGT	0.597													43	64					4.44401e-20	5.41614e-20	1	0	T	230472906	G	T	230472906	3	4	3	1	0	0	0	0	1	0	0	0	11856	1281	45	2	567	2	PGBD5	1	230472906	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	4345222	230472906	18777715	36	412											
TBCE	6905	broad.mit.edu	37	chr1	235600733	235600733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggacaaagaagcagagacgGcgcgactactcattatcgcc	14	5	11	11	4	1	2	1	0	0	2	2	5	1	3	1	2	2	1	1	2	4	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:235600733G>T	ENST00000543662.1	+	13	1319	c.1213G>T	c.(1213-1215)Gcg>Tcg	p.A405S	TBCE_ENST00000406207.1_Missense_Mutation_p.A354S|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Missense_Mutation_p.A354S			Q15813	TBCE_HUMAN	tubulin folding cofactor E	354					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AGCAGAGACGGCGCGACTACT	0.468													52	67					1.86277e-20	2.27618e-20	1	0	T	235600733	G	T	235600733	3	4	3	1	0	0	0	0	1	0	0	0	15728	1203	42	4	1102	4	TBCE	1	235600733	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	5127827	235600733	13649888	37	413											
RYR2	6262	broad.mit.edu	37	chr1	237947941	237947941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctttttccgcatcatttGcagcctgctgcttgggggaa	6	13	12	10	1	1	0	1	0	0	0	2	1	2	1	2	3	4	5	2	3	1	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:237947941G>A	ENST00000366574.2	+	90	13246	c.12929G>A	c.(12928-12930)tGc>tAc	p.C4310Y	RYR2_ENST00000542537.1_Missense_Mutation_p.C4294Y|RYR2_ENST00000360064.6_Missense_Mutation_p.C4316Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4310					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGCATCATTTGCAGCCTGCTG	0.498													28	53					0	0	0	0	A	237947941	G	A	237947941	3	1	3	1	0	0	0	0	1	0	0	0	13854	1319	46	4	13287	4	RYR2	1	237947941	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	2347208	237947941	11302680	38	414											
PLD5	200150	broad.mit.edu	37	chr1	242451748	242451748	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccatgttgagtaaattCatccagccttggaaaagtga	12	12	10	7	0	1	2	1	2	0	0	2	3	2	3	3	2	1	2	3	2	4	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:242451748C>A	ENST00000442594.2	-	4	644	c.135G>T	c.(133-135)atG>atT	p.M45I	PLD5_ENST00000427495.1_Missense_Mutation_p.M75I|PLD5_ENST00000536534.1_Missense_Mutation_p.M137I	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	137						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGAGTAAATTCATCCAGCCTT	0.403													37	57					7.61001e-30	1.00607e-29	1	0	A	242451748	C	A	242451748	3	1	3	1	0	0	0	0	1	0	0	0	12121	826	29	2	1231	2	PLD5	1	242451748	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	4503807	242451748	6798873	39	415											
OR2W5	441932	broad.mit.edu	37	chr1	247655010	247655010	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgtgaggaaaccatgcTggtagaagcgattcaccttt	10	12	11	8	1	2	2	1	1	1	1	2	4	2	3	2	2	3	2	2	2	3	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:247655010T>C	ENST00000522351.1	+	0	641							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAAACCATGCTGGTAGAAGCG	0.592													98	134					0	0	0	0	C	247655010	T	C	247655010	1	2	3	0	1	0	0	0	0	0	0	0	11105	1580	55	5		5	OR2W5	1	247655010	RNA	SNP	T	TCGA-BA-4076-01A-01D-1434-08	5203262	247655010	1595611	40	416											
OR2T33	391195	broad.mit.edu	37	chr1	248436753	248436753	+	Missense_Mutation	SNP	C	C	T																															gagtgggtggcagacagccgCatagcggtcataggccatgg																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:248436753C>T	ENST00000318021.2	-	1	385	c.364G>A	c.(364-366)Gcg>Acg	p.A122T		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGACAGCCGCATAGCGGTCA	0.612													16	62					0	0	0	0	T	248436753	C	T	248436753	3	4	3	1	0	0	0	0	1	0	0	0	11095	710	25	4	601	4	OR2T33	1	248436753	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	781743	248436753	813868	41	417	7	2									
OR2T33	391195	broad.mit.edu	37	chr1	248436759	248436759	+	Missense_Mutation	SNP	G	G	T																															gtggcagacagccgcatagcGgtcataggccatggctgcta																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:248436759G>T	ENST00000318021.2	-	1	379	c.358C>A	c.(358-360)Cgc>Agc	p.R120S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCGCATAGCGGTCATAGGCC	0.592													18	60					6.33695e-27	8.26098e-27	1	0	T	248436759	G	T	248436759	3	4	3	1	0	0	0	0	1	0	0	0	11095	1116	39	3	607	3	OR2T33	1	248436759	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	6	248436759	813862	42	418	7	2									
OR2M7	391196	broad.mit.edu	37	chr1	248487331	248487331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattagtagggaagggaaGtcacagcagaagtgggctat	14	7	16	4	0	1	1	1	0	0	1	1	4	1	4	0	4	1	3	0	4	6	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:248487331G>T	ENST00000317965.2	-	1	568	c.540C>A	c.(538-540)gaC>gaA	p.D180E		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGAAGGGAAGTCACAGCAGA	0.438													97	230					1.00589e-60	1.51858e-60	1	0	T	248487331	G	T	248487331	3	4	3	1	0	0	0	0	1	0	0	0	11085	1020	36	4	401	4	OR2M7	1	248487331	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	50572	248487331	763290	43	419											
OR2T6	254879	broad.mit.edu	37	chr1	248551581	248551581	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaccaggattctcatcacAgtgcatcagatgacatcggc	12	9	8	12	1	3	2	3	1	1	1	5	3	3	3	1	2	2	1	1	2	1	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:248551581A>T	ENST00000355728.2	+	1	672	c.672A>T	c.(670-672)acA>acT	p.T224T		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTCATCACAGTGCATCAGA	0.498													75	63					0	0	0	0	T	248551581	A	T	248551581	2	4	3	1	0	0	0	0	0	0	0	1	11100	175	7	5		5	OR2T6	1	248551581	Silent	SNP	A	TCGA-BA-4076-01A-01D-1434-08	64250	248551581	699040	44	420											
NTSR2	23620	broad.mit.edu	37	chr2	11802111	11802111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgagaacctggacgctgcGctggaggctgcggatccggc	7	6	16	12	4	0	1	0	1	0	1	1	5	1	4	2	5	3	3	2	5	1	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:11802111G>A	ENST00000306928.5	-	2	914	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	294					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TGGACGCTGCGCTGGAGGCTG	0.582													82	123					0	0	0	0	A	11802111	G	A	11802111	3	1	3	1	0	0	0	0	1	0	0	0	10782	1087	38	1	364	1	NTSR2	2	11802111	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08		11802111	231397262	45	421											
DPYSL5	56896	broad.mit.edu	37	chr2	27169818	27169818	+	Silent	SNP	T	T	C																															gttccaaagcgagcttcagcTcggatcctcgctcctcccgg																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:27169818T>C	ENST00000288699.6	+	13	1808	c.1650T>C	c.(1648-1650)gcT>gcC	p.A550A	DPYSL5_ENST00000401478.1_Silent_p.A550A	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	550					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCTTCAGCTCGGATCCTCG	0.607													5	36					0	0	0	0	C	27169818	T	C	27169818	2	2	3	1	0	0	0	0	0	0	0	1	4786	1538	54	5		5	DPYSL5	2	27169818	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08	15367707	27169818	216029555	46	422	8	2									
DPYSL5	56896	broad.mit.edu	37	chr2	27169819	27169819	+	Silent	SNP	C	C	A																															ttccaaagcgagcttcagctCggatcctcgctcctcccgga																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:27169819C>A	ENST00000288699.6	+	13	1809	c.1651C>A	c.(1651-1653)Cgg>Agg	p.R551R	DPYSL5_ENST00000401478.1_Silent_p.R551R	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	551					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTTCAGCTCGGATCCTCGC	0.607													5	37					3.52763e-06	3.72671e-06	1	0	A	27169819	C	A	27169819	2	1	3	1	0	0	0	0	0	0	0	1	4786	875	31	3		3	DPYSL5	2	27169819	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	1	27169819	216029554	47	423	8	2									
GALNT14	79623	broad.mit.edu	37	chr2	31167748	31167748	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctccgtggggtccaggCgccgagccttctgctctggg	2	9	17	13	3	2	0	0	0	2	0	4	1	4	0	4	5	2	2	4	5	0	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:31167748C>A	ENST00000349752.5	-	8	1442	c.803G>T	c.(802-804)cGc>cTc	p.R268L	GALNT14_ENST00000406653.1_Missense_Mutation_p.R248L|GALNT14_ENST00000420311.2_Missense_Mutation_p.R233L|GALNT14_ENST00000356174.3_Missense_Mutation_p.R235L|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Missense_Mutation_p.R273L	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	268						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGGTCCAGGCGCCGAGCCTT	0.587													51	80					4.96213e-28	6.52325e-28	1	0	A	31167748	C	A	31167748	3	1	3	1	0	0	0	0	1	0	0	0	6261	768	27	3	887	3	GALNT14	2	31167748	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	3997929	31167748	212031625	48	424											
THADA	63892	broad.mit.edu	37	chr2	43801749	43801751	+	In_Frame_Del	DEL	CAT	CAT	-																															ggtaccaatgactggtctccCatcacctctaagatttgaga																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:43801749_43801751delCAT	ENST00000403856.1	-	12	1600_1602	c.1453_1455delATG	c.(1453-1455)del	p.M485del	THADA_ENST00000405975.2_In_Frame_Del_p.M485del|THADA_ENST00000402360.2_In_Frame_Del_p.M485del|THADA_ENST00000405006.4_In_Frame_Del_p.M485del|THADA_ENST00000330266.7_In_Frame_Del_p.M195del|THADA_ENST00000415080.2_In_Frame_Del_p.M195del|THADA_ENST00000404790.1_In_Frame_Del_p.M485del			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	485							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACTGGTCTCCCATCACCTCTAAG	0.394													8	189	---	---	---	---					-	43801751	CAT	-	43801749	7	5	3	1	0	1	0	1	0	0	0	0	15934	594	21	0	4518	0	THADA	2	43801749	In_Frame_Del	DEL	CAT	TCGA-BA-4076-01A-01D-1434-08	12634001	43801749	199397624	49	425											
FAM161A	84140	broad.mit.edu	37	chr2	62081004	62081004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtattaccgatgccccaGcgggctgagccactttctcc	7	9	9	16	2	1	1	0	1	1	0	2	2	1	1	6	1	4	2	6	1	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:62081004G>T	ENST00000404929.1	-	1	184	c.173C>A	c.(172-174)gCt>gAt	p.A58D	FAM161A_ENST00000405894.3_Missense_Mutation_p.A58D	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	58					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGATGCCCCAGCGGGCTGAGC	0.682													22	34					7.3207e-31	9.78882e-31	1	0	T	62081004	G	T	62081004	3	4	3	1	0	0	0	0	1	0	0	0	5513	971	34	4	1833	4	FAM161A	2	62081004	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	18279255	62081004	181118369	50	426											
CYP26B1	56603	broad.mit.edu	37	chr2	72361927	72361927	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatctccttcccgtgctccTtgctgctctcaatgaggagg	5	13	9	14	1	3	1	2	1	2	0	7	2	5	2	3	2	3	3	3	2	1	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:72361927T>A	ENST00000001146.2	-	4	1027	c.824A>T	c.(823-825)aAg>aTg	p.K275M	CYP26B1_ENST00000546307.1_Missense_Mutation_p.K200M|CYP26B1_ENST00000412253.1_Missense_Mutation_p.K84M	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	275					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CCCGTGCTCCTTGCTGCTCTC	0.622													19	43					0	0	0	0	A	72361927	T	A	72361927	3	1	3	1	0	0	0	0	1	0	0	0	4188	1609	56	5	726	5	CYP26B1	2	72361927	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	10280923	72361927	170837446	51	427											
LOXL3	84695	broad.mit.edu	37	chr2	74763560	74763560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggacttctacccggccCtctccagggtgggcgccgcc	4	8	12	17	3	3	0	1	0	2	0	4	1	3	1	5	4	1	0	5	4	1	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:74763560C>A	ENST00000264094.3	-	6	1022	c.951G>T	c.(949-951)gaG>gaT	p.E317D	LOXL3_ENST00000393937.2_Missense_Mutation_p.E172D|LOXL3_ENST00000409549.1_Missense_Mutation_p.E317D|LOXL3_ENST00000409986.1_Missense_Mutation_p.E172D|LOXL3_ENST00000409249.1_Missense_Mutation_p.E317D	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	317	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTACCCGGCCCTCTCCAGGGT	0.622													33	41					1.08312e-15	1.2547e-15	1	0	A	74763560	C	A	74763560	3	1	3	1	0	0	0	0	1	0	0	0	8965	680	24	4	1346	4	LOXL3	2	74763560	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	2401633	74763560	168435813	52	428											
LRRTM4	80059	broad.mit.edu	37	chr2	77745800	77745800	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagggcttggtgtttcaaAggtggattgggtgacgtcag	8	11	18	4	1	2	1	2	1	0	0	2	3	2	3	0	6	0	2	0	6	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:77745800A>G	ENST00000409088.3	-	3	1609	c.1195T>C	c.(1195-1197)Ttt>Ctt	p.F399L	LRRTM4_ENST00000409282.1_Missense_Mutation_p.F400L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.F399L|LRRTM4_ENST00000409093.1_Missense_Mutation_p.F399L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.F400L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	399						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGTGTTTCAAAGGTGGATTGG	0.493													37	70					0	0	0	0	G	77745800	A	G	77745800	3	3	3	1	0	0	0	0	1	0	0	0	9106	72	3	5	591	5	LRRTM4	2	77745800	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	2982240	77745800	165453573	53	429											
LRRTM1	347730	broad.mit.edu	37	chr2	80530391	80530391	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgagaaacttgaggctgCggcagtcctggaagatgcgc	9	8	15	9	3	0	3	0	1	0	2	2	5	1	4	1	3	3	2	1	3	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:80530391C>A	ENST00000295057.3	-	2	1210	c.554G>T	c.(553-555)cGc>cTc	p.R185L	LRRTM1_ENST00000409148.1_Missense_Mutation_p.R185L|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	185						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CTTGAGGCTGCGGCAGTCCTG	0.607										HNSCC(69;0.2)			41	44					3.05275e-18	3.64461e-18	1	0	A	80530391	C	A	80530391	3	1	3	1	0	0	0	0	1	0	0	0	9103	768	27	3	1018	3	LRRTM1	2	80530391	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	2784591	80530391	162668982	54	430											
LRRTM1	347730	broad.mit.edu	37	chr2	80530685	80530685	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccacgtgagctgcattaacCccgtgaactggccggcgcgc	7	6	13	15	5	0	2	0	2	0	0	0	2	0	2	4	2	4	2	4	2	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:80530685C>A	ENST00000295057.3	-	2	916	c.260G>T	c.(259-261)gGg>gTg	p.G87V	LRRTM1_ENST00000409148.1_Missense_Mutation_p.G87V|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	87						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CTGCATTAACCCCGTGAACTG	0.622										HNSCC(69;0.2)			66	112					9.07738e-34	1.24217e-33	1	0	A	80530685	C	A	80530685	3	1	3	1	0	0	0	0	1	0	0	0	9103	623	22	4	1312	4	LRRTM1	2	80530685	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	294	80530685	162668688	55	431											
SLC35F5	80255	broad.mit.edu	37	chr2	114492205	114492205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagaaagggtaaatctatctCcactgttacttggaaatact	14	13	7	7	0	2	1	0	0	2	1	3	2	2	2	1	2	2	2	1	2	8	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:114492205C>A	ENST00000245680.2	-	9	1291	c.878G>T	c.(877-879)gGa>gTa	p.G293V		NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	293	DUF6.				transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AAATCTATCTCCACTGTTACT	0.303													51	43					3.28156e-27	4.30187e-27	1	0	A	114492205	C	A	114492205	3	1	3	1	0	0	0	0	1	0	0	0	14680	855	30	2	721	2	SLC35F5	2	114492205	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	33961520	114492205	128707168	56	432											
DPP10	57628	broad.mit.edu	37	chr2	116510867	116510867	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaccactacaggtgcttgTagtaaagtgagtataattta	14	12	10	5	0	0	2	0	1	0	1	0	3	0	2	1	1	2	4	1	1	7	8			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:116510867T>C	ENST00000410059.1	+	11	1548	c.1068T>C	c.(1066-1068)tgT>tgC	p.C356C	DPP10_ENST00000393147.2_Silent_p.C360C|DPP10_ENST00000310323.8_Silent_p.C349C|DPP10_ENST00000409163.1_Silent_p.C306C	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	356					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGGTGCTTGTAGTAAAGTGA	0.368													29	66					0	0	0	0	C	116510867	T	C	116510867	2	2	3	1	0	0	0	0	0	0	0	1	4763	1644	57	5		5	DPP10	2	116510867	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08	2018662	116510867	126688506	57	433											
CNTNAP5	129684	broad.mit.edu	37	chr2	125192236	125192236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaccttggaactccagaaGgggaggctcgccctacacct	10	7	10	14	1	1	1	1	0	0	1	3	3	2	3	4	4	2	1	4	4	3	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:125192236G>T	ENST00000431078.1	+	5	1069	c.705G>T	c.(703-705)aaG>aaT	p.K235N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	235	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AACTCCAGAAGGGGAGGCTCG	0.532													16	36					6.49762e-13	7.30982e-13	1	0	T	125192236	G	T	125192236	3	4	3	1	0	0	0	0	1	0	0	0	3680	991	35	4	723	4	CNTNAP5	2	125192236	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	8681369	125192236	118007137	58	434											
CNTNAP5	129684	broad.mit.edu	37	chr2	125284872	125284872	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccacagggtgccccgaCaatctcaccgattcccaatg	9	8	8	16	2	1	0	1	0	1	0	4	2	3	0	5	1	1	0	5	1	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:125284872C>A	ENST00000431078.1	+	10	1849	c.1485C>A	c.(1483-1485)gaC>gaA	p.D495E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	495	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGTGCCCCGACAATCTCACCG	0.448													23	75					0.000229342	0.000236936	1	0	A	125284872	C	A	125284872	3	1	3	1	0	0	0	0	1	0	0	0	3680	477	17	4	1523	4	CNTNAP5	2	125284872	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	92636	125284872	117914501	59	435											
CYP27C1	339761	broad.mit.edu	37	chr2	127950815	127950815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcaggccggaactccttgGcccgagggaagttctcatcc	7	8	12	14	2	2	0	2	0	1	0	5	3	4	2	4	4	1	2	4	4	2	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:127950815G>T	ENST00000335247.7	-	7	987	c.857C>A	c.(856-858)gCc>gAc	p.A286D	CYP27C1_ENST00000409327.1_Missense_Mutation_p.A286D	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	286						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GAACTCCTTGGCCCGAGGGAA	0.537													81	77					1.39294e-53	2.07609e-53	1	0	T	127950815	G	T	127950815	3	4	3	1	0	0	0	0	1	0	0	0	4192	1203	42	4	269	4	CYP27C1	2	127950815	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	2665943	127950815	115248558	60	436											
LCT	3938	broad.mit.edu	37	chr2	136564931	136564931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatcagagaccaggcgaCataccctcgaaggtctatac	12	7	9	13	2	2	1	1	0	1	1	4	4	3	1	3	2	2	0	3	2	4	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:136564931C>T	ENST00000264162.2	-	9	3950	c.3940G>A	c.(3940-3942)Gtc>Atc	p.V1314I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1314	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GACCAGGCGACATACCCTCGA	0.527													49	23					0	0	0	0	T	136564931	C	T	136564931	3	4	3	1	0	0	0	0	1	0	0	0	8746	478	17	4	1879	4	LCT	2	136564931	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	8614116	136564931	106634442	61	437											
LRP1B	53353	broad.mit.edu	37	chr2	141777503	141777503	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatacccattaactggaTccaccacaattcctctggga	11	11	6	13	0	1	0	0	0	1	0	3	2	3	2	4	2	3	1	4	2	3	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:141777503T>C	ENST00000389484.3	-	12	2929	c.1958A>G	c.(1957-1959)gAt>gGt	p.D653G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	653					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAACTGGATCCACCACAAT	0.333										TSP Lung(27;0.18)			49	17					0	0	0	0	C	141777503	T	C	141777503	3	2	3	1	0	0	0	0	1	0	0	0	9019	1435	50	5	12161	5	LRP1B	2	141777503	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	5212572	141777503	101421870	62	438											
PSMD14	10213	broad.mit.edu	37	chr2	162247657	162247657	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacattattactccattactAttaactatcggaaaaatgaa	17	13	4	7	1	0	1	0	1	0	0	2	3	1	2	1	1	3	0	1	1	9	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:162247657A>G	ENST00000409682.3	+	9	1317	c.613A>G	c.(613-615)Att>Gtt	p.I205V		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	205					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						CTCCATTACTATTAACTATCG	0.249													3	2					0	0	0	0	G	162247657	A	G	162247657	3	3	3	1	0	0	0	0	1	0	0	0	12776	449	16	5	639	5	PSMD14	2	162247657	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	20470154	162247657	80951716	63	439											
IFIH1	64135	broad.mit.edu	37	chr2	163133239	163133239	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctgtgtccagctccaatCagatggtgggctttgactcc	6	12	11	12	0	1	2	1	1	0	1	4	2	4	2	3	2	2	3	3	2	1	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:163133239C>G	ENST00000263642.2	-	11	2657	c.2262G>C	c.(2260-2262)ctG>ctC	p.L754L		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	754	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CAGCTCCAATCAGATGGTGGG	0.393													88	39					0	0	0	0	G	163133239	C	G	163133239	2	3	3	1	0	0	0	0	0	0	0	1	7573	813	29	2		2	IFIH1	2	163133239	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	885582	163133239	80066134	64	440											
FIGN	55137	broad.mit.edu	37	chr2	164467857	164467857	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtactacttgaataaCtaggttctgtcaggttgctg	10	13	10	8	0	2	1	1	1	1	0	2	1	2	1	0	3	4	4	0	3	5	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:164467857C>A	ENST00000333129.3	-	3	799	c.485G>T	c.(484-486)aGt>aTt	p.S162I	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	162						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACTTGAATAACTAGGTTCTGT	0.517													41	20					2.24893e-16	2.63125e-16	1	0	A	164467857	C	A	164467857	3	1	3	1	0	0	0	0	1	0	0	0	5936	565	20	4	1798	4	FIGN	2	164467857	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	1334618	164467857	78731516	65	441											
GRB14	2888	broad.mit.edu	37	chr2	165381587	165381587	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatatgctctggaaaaaaaTactgtcaaaaagacacagtt	18	9	6	8	0	2	1	1	0	1	1	2	2	2	2	1	1	2	2	1	1	7	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:165381587T>C	ENST00000263915.3	-	5	1143	c.603_splice	c.e5-1	p.Y202_splice	GRB14_ENST00000543549.1_Splice_Site_p.Y115_splice	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	202					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGGAAAAAAATACTGTCAAAA	0.284													42	15					0	0	0	0	C	165381587	T	C	165381587	5	2	3	1	0	0	0	0	0	0	1	0	6807	1420	49	5	1057	5	GRB14	2	165381587	Splice_Site	SNP	T	TCGA-BA-4076-01A-01D-1434-08	913730	165381587	77817786	66	442											
SCN1A	6323	broad.mit.edu	37	chr2	166854615	166854615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttcaaggtgaagaaggacCcaaagatgatgaaaataaca	19	6	11	5	0	1	5	1	3	0	2	1	6	1	6	1	3	1	1	1	3	7	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:166854615C>A	ENST00000423058.2	-	23	4426	c.4409G>T	c.(4408-4410)gGg>gTg	p.G1470V	SCN1A_ENST00000375405.3_Missense_Mutation_p.G1459V|SCN1A_ENST00000303395.4_Missense_Mutation_p.G1470V|SCN1A_ENST00000409050.1_Missense_Mutation_p.G1442V|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1470			G -> W (in SMEI; dbSNP:rs121917924).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GAAGAAGGACCCAAAGATGAT	0.338													43	13					4.16155e-14	4.72719e-14	1	0	A	166854615	C	A	166854615	3	1	3	1	0	0	0	0	1	0	0	0	14001	623	22	4	1636	4	SCN1A	2	166854615	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	1473028	166854615	76344758	67	443											
TTN	7273	broad.mit.edu	37	chr2	179454011	179454011	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcttgacccttggtgatCttgttaagtctgtagcgtct	7	16	9	9	1	4	2	0	2	4	0	4	2	4	2	1	1	1	2	1	1	3	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179454011C>A	ENST00000589042.1	-	304	62665	c.62441G>T	c.(62440-62442)aGa>aTa	p.R20814I	TTN_ENST00000342992.6_Missense_Mutation_p.R18246I|TTN_ENST00000359218.5_Missense_Mutation_p.R11874I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19173I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11749I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11941I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19173	Fibronectin type-III 51.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R11749T(1)|p.R18244T(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)			CCTTGGTGATCTTGTTAAGTC	0.453													93	226					1.42366e-38	2.00685e-38	1	0	A	179454011	C	A	179454011	3	1	3	1	0	0	0	0	1	0	0	0	16831	913	32	2	45774	2	TTN	2	179454011	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	12599396	179454011	63745362	68	444											
TTN	7273	broad.mit.edu	37	chr2	179537203	179537203	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggactttctttggtacttCaggcactttaaagatacagt	10	15	9	7	0	2	1	1	0	1	1	2	2	2	2	0	3	2	2	0	3	4	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179537203C>A	ENST00000589042.1	-	154	35085	c.34861G>T	c.(34861-34863)Gaa>Taa	p.E11621*	TTN_ENST00000342992.6_Nonsense_Mutation_p.E10320*|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E11247*|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11454	Glu-rich.|Pro-rich.						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)			TTTGGTACTTCAGGCACTTTA	0.373													115	370					1.19107e-50	1.76399e-50	1	0	A	179537203	C	A	179537203	4	1	3	1	0	0	0	0	0	1	0	0	16831	835	29	2	69683	2	TTN	2	179537203	Nonsense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	83192	179537203	63662170	69	445											
TTN	7273	broad.mit.edu	37	chr2	179553841	179553841	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaactttctcctctgggacGggtttcttaggcagagctgg	6	12	13	10	1	3	1	0	0	3	1	4	2	3	2	1	4	2	4	1	4	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179553841G>C	ENST00000589042.1	-	125	32258	c.32034C>G	c.(32032-32034)ccC>ccG	p.P10678P	TTN_ENST00000342992.6_Silent_p.P9434P|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.P10361P|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10361	Glu-rich.|Pro-rich.						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)			CCTCTGGGACGGGTTTCTTAG	0.433													90	69					0	0	0	0	C	179553841	G	C	179553841	2	2	3	1	0	0	0	0	0	0	0	1	16831	1103	39	3		3	TTN	2	179553841	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	16638	179553841	63645532	70	446											
TTN	7273	broad.mit.edu	37	chr2	179583701	179583701	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttcaaaagatggtggttCtagatattgcaaggcggaag	12	12	13	4	1	2	2	1	0	1	2	2	3	2	3	0	4	1	3	0	4	6	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179583701C>G	ENST00000589042.1	-	84	24451		c.e84-1		TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			GATGGTGGTTCTAGATATTGC	0.438													23	17					0	0	0	0	G	179583701	C	G	179583701	5	3	3	1	0	0	0	0	0	0	1	0	16831	927	32	2	80419	2	TTN	2	179583701	Splice_Site	SNP	C	TCGA-BA-4076-01A-01D-1434-08	29860	179583701	63615672	71	447											
TTN	7273	broad.mit.edu	37	chr2	179590292	179590292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actggacaaaaataggctggGcgccttctatggatgcttgt	10	11	12	8	1	1	0	0	0	1	0	1	2	1	2	1	4	1	2	1	4	4	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179590292G>T	ENST00000589042.1	-	71	20863	c.20639C>A	c.(20638-20640)gCc>gAc	p.A6880D	TTN_ENST00000342992.6_Missense_Mutation_p.A5636D|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A6563D|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6563	Ig-like 50.						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)			AATAGGCTGGGCGCCTTCTAT	0.428													68	53					3.31162e-33	4.50534e-33	1	0	T	179590292	G	T	179590292	3	4	3	1	0	0	0	0	1	0	0	0	16831	1203	42	4	84058	4	TTN	2	179590292	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	6591	179590292	63609081	72	448											
TTN	7273	broad.mit.edu	37	chr2	179659844	179659844	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcagatgaggaggccacGtagccctcttgcttccaagg	8	8	12	13	1	2	2	1	1	1	1	3	3	3	3	4	3	2	2	4	3	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179659844G>T	ENST00000589042.1	-	7	1274	c.1050C>A	c.(1048-1050)taC>taA	p.Y350*	TTN_ENST00000360870.5_Nonsense_Mutation_p.Y350*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y350*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y350*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y350*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y350*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y350*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	350							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)			AGGAGGCCACGTAGCCCTCTT	0.557													49	102					2.68985e-26	3.49681e-26	1	0	T	179659844	G	T	179659844	4	4	3	1	0	0	0	0	0	1	0	0	16831	1140	40	3	110362	3	TTN	2	179659844	Nonsense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	69552	179659844	63539529	73	449											
DNAH7	56171	broad.mit.edu	37	chr2	196723252	196723252	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctaatattggcaaggcAcctgccaggtcagcatcgca	11	8	10	12	1	2	0	1	0	1	0	3	1	2	0	2	3	2	4	2	3	3	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:196723252A>T	ENST00000312428.6	-	43	8113	c.8013T>A	c.(8011-8013)ggT>ggA	p.G2671G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2671	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGGCAAGGCACCTGCCAGGT	0.458													31	20					0	0	0	0	T	196723252	A	T	196723252	2	4	3	1	0	0	0	0	0	0	0	1	4642	146	6	5		5	DNAH7	2	196723252	Silent	SNP	A	TCGA-BA-4076-01A-01D-1434-08	17063408	196723252	46476121	74	450											
ABCA12	26154	broad.mit.edu	37	chr2	215917308	215917308	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggactgggaaatactgtgGctgtaatcaaagaaggaaca	15	9	12	5	0	1	1	1	0	0	1	1	4	1	4	0	4	2	2	0	4	6	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:215917308G>A	ENST00000272895.7	-	5	629	c.409_splice	c.e5-1	p.A137_splice		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	137					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAATACTGTGGCTGTAATCAA	0.428													35	13					0	0	0	0	A	215917308	G	A	215917308	5	1	3	1	0	0	0	0	0	0	1	0	30	1217	42	4	7604	4	ABCA12	2	215917308	Splice_Site	SNP	G	TCGA-BA-4076-01A-01D-1434-08	19194056	215917308	27282065	75	451											
SPHKAP	80309	broad.mit.edu	37	chr2	228883596	228883596	+	Frame_Shift_Del	DEL	G	G	-																															ttcctgacgacattttctgaGcacagggtctgagactttga																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:228883596delG	ENST00000392056.3	-	7	2020	c.1974delC	c.(1972-1974)tgfs	p.C658fs	SPHKAP_ENST00000344657.5_Frame_Shift_Del_p.C658fs	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	658						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATTTTCTGAGCACAGGGTCT	0.433													107	51	---	---	---	---					-	228883596	G	-	228883596	7	5	3	1	0	1	0	1	0	0	0	0	15138	963	34	0	3152	0	SPHKAP	2	228883596	Frame_Shift_Del	DEL	G	TCGA-BA-4076-01A-01D-1434-08	12966288	228883596	14315777	76	452											
TRIP12	9320	broad.mit.edu	37	chr2	230652326	230652326	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctcggtcccgatcaaaTgcagttacataaaaaagcat	15	10	7	9	2	1	0	1	0	0	0	3	1	2	0	1	1	4	4	1	1	5	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:230652326T>C	ENST00000283943.5	-	32	4843	c.4665A>G	c.(4663-4665)gcA>gcG	p.A1555A	TRIP12_ENST00000389045.3_Silent_p.A1285A|TRIP12_ENST00000389044.4_Silent_p.A1603A	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1555	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CCCGATCAAATGCAGTTACAT	0.378													53	20					0	0	0	0	C	230652326	T	C	230652326	2	2	3	1	0	0	0	0	0	0	0	1	16651	1451	51	5		5	TRIP12	2	230652326	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08	1768730	230652326	12547047	77	453											
ANKMY1	51281	broad.mit.edu	37	chr2	241494415	241494415	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggactccctcaggtcctgCgccctcagcgggccctcagc	5	7	11	18	2	3	0	3	0	0	0	5	1	5	1	4	3	3	0	4	3	1	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:241494415C>T	ENST00000401804.1	-	3	342	c.204G>A	c.(202-204)gcG>gcA	p.A68A	ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000406958.1_Silent_p.A68A|ANKMY1_ENST00000272972.3_5'UTR|ANKMY1_ENST00000405523.3_Silent_p.A68A|ANKMY1_ENST00000405002.1_5'UTR|ANKMY1_ENST00000403283.1_Silent_p.A147A|ANKMY1_ENST00000373318.2_Silent_p.A68A|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000361678.4_Silent_p.A68A|ANKMY1_ENST00000536462.1_Silent_p.A21A			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	0							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCAGGTCCTGCGCCCTCAGCG	0.582													4	182					0	0	0	0	T	241494415	C	T	241494415	2	4	3	1	0	0	0	0	0	0	0	1	634	755	27	1		1	ANKMY1	2	241494415	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	10842089	241494415	1704958	78	454											
GRM7	2917	broad.mit.edu	37	chr3	7494344	7494344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcaggagggtaaagtcCagttcgtgattgacgcagtc	11	9	14	7	2	0	3	0	3	0	0	3	4	1	4	1	2	1	4	1	2	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:7494344C>A	ENST00000486284.1	+	6	1499	c.1225C>A	c.(1225-1227)Cag>Aag	p.Q409K	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.Q409K|GRM7_ENST00000403881.1_Missense_Mutation_p.Q409K|GRM7_ENST00000357716.4_Missense_Mutation_p.Q409K|GRM7_ENST00000402647.2_Missense_Mutation_p.Q409K	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	409					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			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)	GGGTAAAGTCCAGTTCGTGAT	0.483													27	18					3.73148e-12	4.13823e-12	1	0	A	7494344	C	A	7494344	3	1	3	1	0	0	0	0	1	0	0	0	6852	595	21	4	1247	4	GRM7	3	7494344	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08		7494344	190528086	79	455											
GRM7	2917	broad.mit.edu	37	chr3	7494377	7494377	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgcagtctatgctatggctCacgcccttcaccacatgaac	10	9	7	15	2	3	1	2	1	1	0	3	1	3	1	2	1	2	3	2	1	3	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:7494377C>G	ENST00000486284.1	+	6	1532	c.1258C>G	c.(1258-1260)Cac>Gac	p.H420D	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.H420D|GRM7_ENST00000403881.1_Missense_Mutation_p.H420D|GRM7_ENST00000357716.4_Missense_Mutation_p.H420D|GRM7_ENST00000402647.2_Missense_Mutation_p.H420D	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	420					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			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)	TGCTATGGCTCACGCCCTTCA	0.488													18	12					0	0	0	0	G	7494377	C	G	7494377	3	3	3	1	0	0	0	0	1	0	0	0	6852	826	29	2	1280	2	GRM7	3	7494377	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	33	7494377	190528053	80	456											
ATP2B2	491	broad.mit.edu	37	chr3	10428194	10428194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccatcccccttcttcaCacctgtgtgatgatttttga	8	14	7	12	0	2	3	1	3	1	0	3	3	3	3	4	1	0	0	4	1	1	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:10428194C>A	ENST00000360273.2	-	7	1348	c.910G>T	c.(910-912)Gtg>Ttg	p.V304L	ATP2B2_ENST00000343816.4_Missense_Mutation_p.V304L|ATP2B2_ENST00000397077.1_Intron|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V304L|ATP2B2_ENST00000383800.4_Intron	NM_001001331.2	NP_001001331.1	Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	304					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCCTTCTTCACACCTGTGTGA	0.507													50	23					1.78197e-24	2.26005e-24	1	0	A	10428194	C	A	10428194	3	1	3	1	0	0	0	0	1	0	0	0	1144	478	17	4	2889	4	ATP2B2	3	10428194	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	2933817	10428194	187594236	81	457											
XCR1	2829	broad.mit.edu	37	chr3	46062615	46062615	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcagcagtgggagaaggcGaggttgcggcagatgagcag	12	4	19	6	2	0	3	0	1	0	2	0	5	0	3	0	4	4	5	0	4	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:46062615G>A	ENST00000309285.3	-	2	1181	c.825C>T	c.(823-825)ctC>ctT	p.L275L	XCR1_ENST00000542109.1_Silent_p.L275L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	275					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGGAGAAGGCGAGGTTGCGGC	0.567													23	7					0	0	0	0	A	46062615	G	A	46062615	2	1	3	1	0	0	0	0	0	0	0	1	17521	1045	37	1		1	XCR1	3	46062615	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	35634421	46062615	151959815	82	458											
LMOD3	56203	broad.mit.edu	37	chr3	69168975	69168975	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttctaatttgttccttTgctttgccttcctcttctct	4	22	3	12	0	3	0	0	0	3	0	6	0	5	0	3	0	2	2	3	0	2	8			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:69168975T>C	ENST00000420581.2	-	2	710	c.531A>G	c.(529-531)gcA>gcG	p.A177A	LMOD3_ENST00000489031.1_Silent_p.A177A|LMOD3_ENST00000475434.1_Silent_p.A177A	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	177	Glu-rich.					cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TTTGTTCCTTTGCTTTGCCTT	0.418													10	5					0	0	0	0	C	69168975	T	C	69168975	2	2	3	1	0	0	0	0	0	0	0	1	8913	1799	63	5		5	LMOD3	3	69168975	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08	23106360	69168975	128853455	83	459											
CADM2	253559	broad.mit.edu	37	chr3	85851229	85851229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttccactaacacagaatGtaaccgttgttgaaggtgga	13	11	10	7	1	0	2	0	1	0	1	1	3	1	3	2	2	2	4	2	2	4	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:85851229G>T	ENST00000383699.3	+	3	748	c.121G>T	c.(121-123)Gta>Tta	p.V41L	CADM2-AS2_ENST00000467225.1_RNA|CADM2_ENST00000405615.2_Missense_Mutation_p.V34L|CADM2_ENST00000407528.2_Missense_Mutation_p.V32L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	32	Ig-like V-type.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AACACAGAATGTAACCGTTGT	0.403													53	10					1.4709e-25	1.89637e-25	1	0	T	85851229	G	T	85851229	3	4	3	1	0	0	0	0	1	0	0	0	2592	1377	48	4	171	4	CADM2	3	85851229	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	16682254	85851229	112171201	84	460											
PROS1	5627	broad.mit.edu	37	chr3	93615489	93615489	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgctccgccaagtaaagtAattcatactttgtgtcaagg	12	12	8	9	1	2	0	2	0	0	0	3	0	3	0	2	1	2	3	2	1	6	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:93615489A>T	ENST00000394236.3	-	9	1212	c.896T>A	c.(895-897)tTa>tAa	p.L299*	PROS1_ENST00000407433.1_Nonsense_Mutation_p.L168*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	299	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CAAGTAAAGTAATTCATACTT	0.358													79	242					0	0	0	0	T	93615489	A	T	93615489	4	4	3	1	0	0	0	0	0	1	0	0	12638	372	13	5	1162	5	PROS1	3	93615489	Nonsense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	7764260	93615489	104406941	85	461											
ST3GAL6	10402	broad.mit.edu	37	chr3	98507004	98507004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accctaatacgacagtgattCtcactgcttttaagccacat	12	12	5	12	1	1	1	1	1	1	0	2	2	1	1	2	0	3	1	2	0	3	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:98507004C>G	ENST00000265261.6	+	7	624	c.202C>G	c.(202-204)Ctc>Gtc	p.L68V	ST3GAL6_ENST00000394162.1_Missense_Mutation_p.L186V|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.L186V	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	186					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GACAGTGATTCTCACTGCTTT	0.383													50	124					0	0	0	0	G	98507004	C	G	98507004	3	3	3	1	0	0	0	0	1	0	0	0	15309	913	32	2	578	2	ST3GAL6	3	98507004	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	4891515	98507004	99515426	86	462											
GPR128	84873	broad.mit.edu	37	chr3	100349575	100349576	+	Frame_Shift_Ins	INS	-	-	TT																															ttgtgaaaatagtacctataINStgggttttacttttgccaga																								rs146877111		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:100349575_100349576insTT	ENST00000273352.3	+	3	524_525	c.256_257insTT	c.(256-258)gggfs	p.G86fs		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	86					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TAGTACCTATATGGGTTTTACT	0.317													33	120	---	---	---	---					TT	100349576	-	TT	100349575	7	5	3	1	0	1	1	0	0	0	0	0	6690	449	16	0	266	0	GPR128	3	100349575	Frame_Shift_Ins	INS	-	TCGA-BA-4076-01A-01D-1434-08	1842571	100349575	97672855	87	463											
IMPG2	50939	broad.mit.edu	37	chr3	100962535	100962535	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttctgtgggccaagcCacactaaccatctctgtgga	8	10	8	15	0	2	0	0	0	2	0	4	1	3	1	5	2	2	0	5	2	2	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:100962535C>A	ENST00000193391.7	-	13	2827	c.2640G>T	c.(2638-2640)gtG>gtT	p.V880V		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	880					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGGGCCAAGCCACACTAACCA	0.458													69	41					5.45122e-27	7.12618e-27	1	0	A	100962535	C	A	100962535	2	1	3	1	0	0	0	0	0	0	0	1	7782	581	21	4		4	IMPG2	3	100962535	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	612960	100962535	97059895	88	464											
MYH15	22989	broad.mit.edu	37	chr3	108189618	108189618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcttggcatccagggccCtgttgatccgtgccactagc	7	9	11	14	1	0	1	0	1	0	0	2	1	2	1	4	2	3	3	4	2	1	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:108189618C>T	ENST00000273353.3	-	14	1426	c.1370G>A	c.(1369-1371)aGg>aAg	p.R457K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	457	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATCCAGGGCCCTGTTGATCCG	0.458													27	53					0	0	0	0	T	108189618	C	T	108189618	3	4	3	1	0	0	0	0	1	0	0	0	10104	681	24	4	4586	4	MYH15	3	108189618	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	7227083	108189618	89832812	89	465											
TRAT1	50852	broad.mit.edu	37	chr3	108572466	108572466	+	Splice_Site	DEL	G	G	-																															attaacatccctttcttttaGgcaaccaatgaaacacagat																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:108572466delG	ENST00000295756.6	+	6	533		c.e6-1		TRAT1_ENST00000426646.1_Splice_Site	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1						cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CTTTCTTTTAGGCAACCAATG	0.403													50	215	---	---	---	---					-	108572466	G	-	108572466	8	5	3	1	0	1	0	1	0	0	1	0	16561	1014	35	0	325	0	TRAT1	3	108572466	Splice_Site	DEL	G	TCGA-BA-4076-01A-01D-1434-08	382848	108572466	89449964	90	466											
MORC1	27136	broad.mit.edu	37	chr3	108813861	108813861	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgcaaatttctggggatCatctgtgacagattctctgg	9	14	10	8	0	4	2	1	1	3	1	5	3	4	3	0	3	1	1	0	3	1	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:108813861C>A	ENST00000232603.5	-	7	560	c.478G>T	c.(478-480)Gat>Tat	p.D160Y	MORC1_ENST00000483760.1_Missense_Mutation_p.D160Y	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	160					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCTGGGGATCATCTGTGACA	0.313													24	89					7.92952e-12	8.6909e-12	1	0	A	108813861	C	A	108813861	3	1	3	1	0	0	0	0	1	0	0	0	9771	826	29	2	2564	2	MORC1	3	108813861	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	241395	108813861	89208569	91	467											
HEG1	57493	broad.mit.edu	37	chr3	124738111	124738111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggaaaaactcactcgaaCgttctccacgtggtgctgat	12	10	9	10	3	2	1	1	1	1	0	4	3	2	2	1	2	3	2	1	2	4	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:124738111C>A	ENST00000311127.4	-	5	1650	c.1583G>T	c.(1582-1584)cGt>cTt	p.R528L	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	528	Ser-rich.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CTCACTCGAACGTTCTCCACG	0.458													3	91					0.00909568	0.00927403	1	0	A	124738111	C	A	124738111	3	1	3	1	0	0	0	0	1	0	0	0	7094	536	19	3	2614	3	HEG1	3	124738111	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	15924250	124738111	73284319	92	468											
KIAA1257	57501	broad.mit.edu	37	chr3	128712028	128712028	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagactcctgggccctggcCttggccttcaggtgttcctc	3	12	11	15	0	2	1	2	0	0	1	5	1	4	1	5	4	0	1	5	4	0	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:128712028C>T	ENST00000265068.5	-	2	287	c.120G>A	c.(118-120)aaG>aaA	p.K40K	KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000511438.1_Silent_p.K40K	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	40										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGGCCCTGGCCTTGGCCTTCA	0.612													5	166					0	0	0	0	T	128712028	C	T	128712028	2	4	3	1	0	0	0	0	0	0	0	1	8269	680	24	4		4	KIAA1257	3	128712028	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	3973917	128712028	69310402	93	469											
PLXND1	23129	broad.mit.edu	37	chr3	129293227	129293227	+	Frame_Shift_Del	DEL	C	C	-																															ccagccatgggctgcagaggCccccgcaggcggcagccatc																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:129293227delC	ENST00000393239.1	-	12	2815	c.2637delG	c.(2635-2637)ggfs	p.G879fs	PLXND1_ENST00000324093.4_Frame_Shift_Del_p.G879fs			Q9Y4D7	PLXD1_HUMAN	plexin D1	879					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCTGCAGAGGCCCCCGCAGGC	0.687													10	25	---	---	---	---					-	129293227	C	-	129293227	7	5	3	1	0	1	0	1	0	0	0	0	12199	726	26	0	3240	0	PLXND1	3	129293227	Frame_Shift_Del	DEL	C	TCGA-BA-4076-01A-01D-1434-08	581199	129293227	68729203	94	470											
NPHP3	27031	broad.mit.edu	37	chr3	132408077	132408077	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtctttgccaacaaactgCcaataactcagcaactcagc	13	10	5	13	0	3	0	2	0	1	0	3	0	3	0	2	0	8	1	2	0	5	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:132408077C>T	ENST00000337331.5	-	20	2810	c.2724G>A	c.(2722-2724)tgG>tgA	p.W908*	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	908					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAACAAACTGCCAATAACTCA	0.383													76	166					0	0	0	0	T	132408077	C	T	132408077	4	4	3	1	0	0	0	0	0	1	0	0	10650	740	26	4	1300	4	NPHP3	3	132408077	Nonsense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	3114850	132408077	65614353	95	471											
HLTF	6596	broad.mit.edu	37	chr3	148778569	148778569	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctattacatgttaccttTcattttctgcggcaattcac	10	17	4	10	1	4	0	2	0	2	0	4	0	4	0	1	1	3	2	1	1	5	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:148778569T>G	ENST00000310053.5	-	11	1430	c.1237A>C	c.(1237-1239)Aaa>Caa	p.K413Q	HLTF_ENST00000494055.1_Missense_Mutation_p.K413Q|HLTF_ENST00000392912.2_Missense_Mutation_p.K413Q|HLTF_ENST00000465259.1_Missense_Mutation_p.K413Q	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	413					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATGTTACCTTTCATTTTCTGC	0.299													38	69					0	0	0	0	G	148778569	T	G	148778569	3	3	3	1	0	0	0	0	1	0	0	0	7265	1792	62	5	1852	5	HLTF	3	148778569	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	16370492	148778569	49243861	96	472											
HLTF	6596	broad.mit.edu	37	chr3	148792018	148792018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactttttggtgcaggaccCaatttaaatccatgtttctt	9	18	6	8	0	1	0	0	0	1	0	2	1	2	1	2	2	2	2	2	2	4	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:148792018C>A	ENST00000310053.5	-	4	706	c.513G>T	c.(511-513)ttG>ttT	p.L171F	HLTF_ENST00000494055.1_Missense_Mutation_p.L171F|HLTF_ENST00000392912.2_Missense_Mutation_p.L171F|HLTF_ENST00000465259.1_Missense_Mutation_p.L171F	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	171					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGCAGGACCCAATTTAAATC	0.338													21	100					4.35082e-09	4.68088e-09	1	0	A	148792018	C	A	148792018	3	1	3	1	0	0	0	0	1	0	0	0	7265	593	21	4	2604	4	HLTF	3	148792018	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	13449	148792018	49230412	97	473											
GPR149	344758	broad.mit.edu	37	chr3	154138918	154138918	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgagacagtcttctttcTggcccttcagaaaaggtagt	10	13	9	9	0	5	2	2	1	3	2	5	3	5	2	1	2	0	1	1	2	3	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:154138918T>C	ENST00000389740.2	-	3	1632	c.1533A>G	c.(1531-1533)ccA>ccG	p.P511P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	511						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTCTTCTTTCTGGCCCTTCAG	0.408													79	163					0	0	0	0	C	154138918	T	C	154138918	2	2	3	1	0	0	0	0	0	0	0	1	6703	1567	55	5		5	GPR149	3	154138918	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08	5346900	154138918	43883512	98	474											
IQCJ	654502	broad.mit.edu	37	chr3	158983064	158983064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggaggttgcagtcacctGgggacaagttgcctggtgga	7	10	16	8	0	1	0	1	0	0	0	1	3	1	3	2	6	2	3	2	6	1	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:158983064G>A	ENST00000482126.1	+	4	376	c.271G>A	c.(271-273)Ggg>Agg	p.G91R	IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ_ENST00000451172.1_Missense_Mutation_p.G118R|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron	NM_001197100.1	NP_001184029.1			IQ motif containing J											cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GCAGTCACCTGGGGACAAGTT	0.493													215	150					0	0	0	0	A	158983064	G	A	158983064	3	1	3	1	0	0	0	0	1	0	0	0	7865	1348	47	4	418	4	IQCJ	3	158983064	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	4844146	158983064	39039366	99	475											
SI	6476	broad.mit.edu	37	chr3	164737396	164737396	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgttggtacctacaccaggGggttggtctcttgtgaacat	8	13	12	8	0	1	1	0	1	1	0	2	1	1	1	2	4	3	3	2	4	3	5	rs150297357	byFrequency	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:164737396G>T	ENST00000264382.3	-	28	3479	c.3417C>A	c.(3415-3417)ccC>ccA	p.P1139P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1139	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTACACCAGGGGGTTGGTCTC	0.443										HNSCC(35;0.089)			82	76					1.02218e-41	1.46743e-41	1	0	T	164737396	G	T	164737396	2	4	3	1	0	0	0	0	0	0	0	1	14385	1219	43	4		4	SI	3	164737396	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	5754332	164737396	33285034	100	476											
SI	6476	broad.mit.edu	37	chr3	164739083	164739083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccttgatttccacatcaTaaagtctgtcttcataagta	11	17	4	9	0	4	1	2	1	2	0	6	1	6	1	2	0	0	1	2	0	4	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:164739083T>C	ENST00000264382.3	-	27	3250	c.3188A>G	c.(3187-3189)tAt>tGt	p.Y1063C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1063	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTCCACATCATAAAGTCTGTC	0.353										HNSCC(35;0.089)			142	330					0	0	0	0	C	164739083	T	C	164739083	3	2	3	1	0	0	0	0	1	0	0	0	14385	1406	49	5	2383	5	SI	3	164739083	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	1687	164739083	33283347	101	477											
PHC3	80012	broad.mit.edu	37	chr3	169866864	169866864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgaaaaaatttggtagctCatatcttaccatttgagctc	13	14	6	8	0	2	2	1	2	1	0	3	2	2	2	1	1	3	3	1	1	6	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:169866864C>T	ENST00000474275.1	-	5	598	c.535G>A	c.(535-537)Gag>Aag	p.E179K	PHC3_ENST00000495893.1_Intron|PHC3_ENST00000467570.1_Intron|PHC3_ENST00000494943.1_Intron			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	547	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTTGGTAGCTCATATCTTACC	0.353													15	27					0	0	0	0	T	169866864	C	T	169866864	3	4	3	1	0	0	0	0	1	0	0	0	11890	841	29	2		2	PHC3	3	169866864	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	5127781	169866864	28155566	102	478											
EIF5A2	56648	broad.mit.edu	37	chr3	170624851	170624851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatatcttcatattttttgCccgtgaaaatatcaattcca	14	16	3	8	1	3	1	2	1	1	0	4	1	4	1	2	0	1	0	2	0	7	8			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:170624851C>T	ENST00000295822.2	-	3	382	c.197G>A	c.(196-198)gGc>gAc	p.G66D	EIF5A2_ENST00000460117.1_Intron|EIF5A2_ENST00000474096.1_Missense_Mutation_p.G66D|EIF5A2_ENST00000487522.1_Missense_Mutation_p.G66D	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	66					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			ATATTTTTTGCCCGTGAAAAT	0.343													4	132					0	0	0	0	T	170624851	C	T	170624851	3	4	3	1	0	0	0	0	1	0	0	0	5080	739	26	4	276	4	EIF5A2	3	170624851	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	757987	170624851	27397579	103	479											
MFN1	55669	broad.mit.edu	37	chr3	179095131	179095131	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaattttcatattttcaGgtttcatgtgcaatgacaga	13	15	6	7	0	3	2	3	1	0	1	3	2	3	2	1	1	1	2	1	1	4	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:179095131G>A	ENST00000471841.1	+	12	1350		c.e12-1		MFN1_ENST00000280653.7_Splice_Site|MFN1_ENST00000263969.5_Splice_Site	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1						mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CATATTTTCAGGTTTCATGTG	0.239													44	101					0	0	0	0	A	179095131	G	A	179095131	5	1	3	1	0	0	0	0	0	0	1	0	9592	1014	35	4	1266	4	MFN1	3	179095131	Splice_Site	SNP	G	TCGA-BA-4076-01A-01D-1434-08	8470280	179095131	18927299	104	480											
CHRD	8646	broad.mit.edu	37	chr3	184099067	184099067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccctggcagggtcagctgCaagaacatcaaaccagagtg	12	5	13	11	0	2	2	2	0	0	2	2	2	2	2	2	3	4	3	2	3	3	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:184099067C>G	ENST00000204604.1	+	3	543	c.297C>G	c.(295-297)tgC>tgG	p.C99W	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000348986.3_Missense_Mutation_p.C99W|CHRD_ENST00000450923.1_Missense_Mutation_p.C99W	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	99	VWFC 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGTCAGCTGCAAGAACATCA	0.647													21	43					0	0	0	0	G	184099067	C	G	184099067	3	3	3	1	0	0	0	0	1	0	0	0	3401	718	25	4	307	4	CHRD	3	184099067	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	5003936	184099067	13923363	105	481											
DNAJB11	51726	broad.mit.edu	37	chr3	186299209	186299209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctggcaaacggaagtGcaattgtcggcaagagatgc	11	7	14	9	2	0	1	0	0	0	1	2	3	1	2	1	4	3	4	1	4	4	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:186299209G>T	ENST00000439351.1	+	6	1435	c.506G>T	c.(505-507)tGc>tTc	p.C169F	DNAJB11_ENST00000265028.3_Missense_Mutation_p.C169F			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	169					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AAACGGAAGTGCAATTGTCGG	0.517													55	145					5.82388e-19	6.98866e-19	1	0	T	186299209	G	T	186299209	3	4	3	1	0	0	0	0	1	0	0	0	4652	1319	46	4	524	4	DNAJB11	3	186299209	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	2200142	186299209	11723221	106	482											
GUF1	60558	broad.mit.edu	37	chr4	44688653	44688653	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaaaggagataaaattgtAtctgcacatactcaaaagac	18	9	6	8	0	2	2	1	0	1	2	3	3	3	2	1	1	2	2	1	1	7	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:44688653A>G	ENST00000281543.5	+	8	1055	c.861A>G	c.(859-861)gtA>gtG	p.V287V	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	287					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATAAAATTGTATCTGCACATA	0.368													89	38					0	0	0	0	G	44688653	A	G	44688653	2	3	3	1	0	0	0	0	0	0	0	1	6949	436	16	5		5	GUF1	4	44688653	Silent	SNP	A	TCGA-BA-4076-01A-01D-1434-08		44688653	146465623	107	483											
KIAA1211	57482	broad.mit.edu	37	chr4	57173804	57173804	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagaagaggatctgttccTgaccagtcccatggaaattg	11	11	10	9	0	1	3	0	1	1	2	3	5	3	5	3	2	0	1	3	2	3	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:57173804T>A	ENST00000504228.1	+	3	329	c.224T>A	c.(223-225)cTg>cAg	p.L75Q	KIAA1211_ENST00000264229.6_Missense_Mutation_p.L75Q|KIAA1211_ENST00000541073.1_Missense_Mutation_p.L68Q			Q6ZU35	K1211_HUMAN	KIAA1211	75										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GATCTGTTCCTGACCAGTCCC	0.493													36	38					0	0	0	0	A	57173804	T	A	57173804	3	1	3	1	0	0	0	0	1	0	0	0	8266	1580	55	5	230	5	KIAA1211	4	57173804	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	12485151	57173804	133980472	108	484											
TECRL	253017	broad.mit.edu	37	chr4	65175550	65175550	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagcatcctcaccattatCaaatttttcaaaggtgtgtg	13	13	6	9	0	3	0	3	0	0	0	4	0	4	0	2	1	1	1	2	1	4	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:65175550C>G	ENST00000381210.3	-	6	761	c.651G>C	c.(649-651)ttG>ttC	p.L217F	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.L217F	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	217					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCACCATTATCAAATTTTTCA	0.338													85	139					0	0	0	0	G	65175550	C	G	65175550	3	3	3	1	0	0	0	0	1	0	0	0	15840	825	29	2	468	2	TECRL	4	65175550	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	8001746	65175550	125978726	109	485											
UGT2B10	7365	broad.mit.edu	37	chr4	69682013	69682013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaatatcatcatgcaattGgttaagagattgtcagaaat	16	12	9	4	0	3	3	3	0	0	3	3	5	3	3	0	1	1	2	0	1	5	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:69682013G>T	ENST00000265403.7	+	1	303	c.276G>T	c.(274-276)ttG>ttT	p.L92F	UGT2B10_ENST00000458688.2_Missense_Mutation_p.L92F	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	92					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCATGCAATTGGTTAAGAGAT	0.313													41	60					2.26627e-22	2.81331e-22	1	0	T	69682013	G	T	69682013	3	4	3	1	0	0	0	0	1	0	0	0	17052	1339	47	4	278	4	UGT2B10	4	69682013	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	4506463	69682013	121472263	110	486											
CSN1S1	1446	broad.mit.edu	37	chr4	70804897	70804897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttctttcttttagaagAtggaatccagcatcagttca	12	15	7	7	0	4	3	2	0	2	3	5	4	5	4	1	1	1	2	1	1	3	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:70804897A>G	ENST00000246891.4	+	10	296	c.247A>G	c.(247-249)Atg>Gtg	p.M83V	CSN1S1_ENST00000507772.1_Missense_Mutation_p.M83V|CSN1S1_ENST00000507763.1_Missense_Mutation_p.M82V|CSN1S1_ENST00000444405.3_Missense_Mutation_p.M82V|CSN1S1_ENST00000505782.1_Missense_Mutation_p.M75V	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	83						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CTTTTAGAAGATGGAATCCAG	0.328													50	73					0	0	0	0	G	70804897	A	G	70804897	3	3	3	1	0	0	0	0	1	0	0	0	3979	333	12	5	281	5	CSN1S1	4	70804897	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	1122884	70804897	120349379	111	487											
ADAMTS3	9508	broad.mit.edu	37	chr4	73164099	73164099	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgattgtaggtacagagtCttcatggatgatgtacttat	10	16	11	4	0	2	3	1	2	1	1	2	4	2	4	0	2	2	4	0	2	4	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:73164099C>G	ENST00000286657.4	-	18	2521	c.2485G>C	c.(2485-2487)Gac>Cac	p.D829H		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	829	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTACAGAGTCTTCATGGATG	0.403													84	121					0	0	0	0	G	73164099	C	G	73164099	3	3	3	1	0	0	0	0	1	0	0	0	267	913	32	2	1152	2	ADAMTS3	4	73164099	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	2359202	73164099	117990177	112	488											
ALB	213	broad.mit.edu	37	chr4	74285323	74285323	+	Missense_Mutation	SNP	G	G	T																															tttgtagagaagtgctgcaaGgctgacgataaggagacctg																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:74285323G>T	ENST00000295897.4	+	13	1841	c.1752G>T	c.(1750-1752)aaG>aaT	p.K584N	ALB_ENST00000509063.1_Missense_Mutation_p.K584N|ALB_ENST00000401494.3_Missense_Mutation_p.K469N|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.K392N|ALB_ENST00000503124.1_Missense_Mutation_p.K434N	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	584	Albumin 3.	Not glycated.	K -> E (in Church bay).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGTGCTGCAAGGCTGACGATA	0.443													63	133					2.26907e-38	3.18896e-38	1	0	T	74285323	G	T	74285323	3	4	3	1	0	0	0	0	1	0	0	0	486	991	35	4	1802	4	ALB	4	74285323	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	1121224	74285323	116868953	113	489	9	2									
ALB	213	broad.mit.edu	37	chr4	74285324	74285324	+	Missense_Mutation	SNP	G	G	T																															ttgtagagaagtgctgcaagGctgacgataaggagacctgc																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:74285324G>T	ENST00000295897.4	+	13	1842	c.1753G>T	c.(1753-1755)Gct>Tct	p.A585S	ALB_ENST00000509063.1_Missense_Mutation_p.A585S|ALB_ENST00000401494.3_Missense_Mutation_p.A470S|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.A393S|ALB_ENST00000503124.1_Missense_Mutation_p.A435S	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	585	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GTGCTGCAAGGCTGACGATAA	0.438													66	133					7.33394e-39	1.03694e-38	1	0	T	74285324	G	T	74285324	3	4	3	1	0	0	0	0	1	0	0	0	486	1203	42	4	1803	4	ALB	4	74285324	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	1	74285324	116868952	114	490	9	2									
NAA11	84779	broad.mit.edu	37	chr4	80246866	80246866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccattttggccagaaCatagcccacaatcttcccgt	9	11	5	16	1	1	1	0	0	1	1	4	1	4	1	5	1	2	0	5	1	3	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:80246866C>T	ENST00000286794.4	-	1	338	c.166G>A	c.(166-168)Gtt>Att	p.V56I		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	56	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TTGGCCAGAACATAGCCCACA	0.532													65	134					0	0	0	0	T	80246866	C	T	80246866	3	4	3	1	0	0	0	0	1	0	0	0	10187	478	17	4	527	4	NAA11	4	80246866	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	5961542	80246866	110907410	115	491											
ANTXR2	118429	broad.mit.edu	37	chr4	80898813	80898813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgcatcaaagaaacccggtCatactgccgcctcaacaaag	14	6	7	14	3	3	1	3	0	0	1	4	1	3	1	3	1	4	1	3	1	5	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:80898813C>T	ENST00000403729.2	-	16	1915	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	ANTXR2_ENST00000307333.7_Missense_Mutation_p.D464N|ANTXR2_ENST00000404191.1_Missense_Mutation_p.D387N|ANTXR2_ENST00000346652.6_Missense_Mutation_p.D361N	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	464						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GAAACCCGGTCATACTGCCGC	0.448									Juvenile Hyaline Fibromatosis				6	8					0	0	0	0	T	80898813	C	T	80898813	3	4	3	1	0	0	0	0	1	0	0	0	711	826	29	2	126	2	ANTXR2	4	80898813	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	651947	80898813	110255463	116	492											
ENOPH1	58478	broad.mit.edu	37	chr4	83375980	83375980	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcacagaaactgttattcggGcattctacggagggagatat	12	10	12	7	2	1	2	0	0	1	2	2	4	1	3	0	3	2	3	0	3	4	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:83375980G>A	ENST00000273920.3	+	4	763	c.495G>A	c.(493-495)ggG>ggA	p.G165G	ENOPH1_ENST00000509635.1_Silent_p.G77G	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	165					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						TGTTATTCGGGCATTCTACGG	0.418													5	214					0	0	0	0	A	83375980	G	A	83375980	2	1	3	1	0	0	0	0	0	0	0	1	5162	1190	42	4		4	ENOPH1	4	83375980	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	2477167	83375980	107778296	117	493											
GPRIN3	285513	broad.mit.edu	37	chr4	90170272	90170272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctggtggagacggatctGctctcgacactcgccactgc	6	8	14	13	3	2	1	0	0	2	1	4	4	2	2	1	4	2	2	1	4	0	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:90170272G>T	ENST00000333209.3	-	2	1508	c.990C>A	c.(988-990)agC>agA	p.S330R		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	330										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		AGACGGATCTGCTCTCGACAC	0.537													53	100					1.4374e-25	1.8583e-25	1	0	T	90170272	G	T	90170272	3	4	3	1	0	0	0	0	1	0	0	0	6781	1310	46	4	1344	4	GPRIN3	4	90170272	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	6794292	90170272	100984004	118	494											
DKK2	27123	broad.mit.edu	37	chr4	107845325	107845325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagcaaaacccttcaatgCagtctgatgatcgtaggcag	13	8	9	11	1	2	2	1	2	1	0	3	2	2	2	1	1	3	4	1	1	4	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:107845325C>A	ENST00000285311.3	-	4	1271	c.566G>T	c.(565-567)tGc>tTc	p.C189F	DKK2_ENST00000510463.1_Missense_Mutation_p.C143F|DKK2_ENST00000513208.1_Missense_Mutation_p.C89F	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	189	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCCTTCAATGCAGTCTGATGA	0.453													51	76					4.00472e-15	4.60493e-15	1	0	A	107845325	C	A	107845325	3	1	3	1	0	0	0	0	1	0	0	0	4582	710	25	4	217	4	DKK2	4	107845325	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	17675053	107845325	83308951	119	495											
DKK2	27123	broad.mit.edu	37	chr4	107845853	107845853	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcagtaactgggatacaGatgcctggagatgatcatat	12	12	10	7	0	2	3	2	1	0	2	2	5	2	4	1	2	3	1	1	2	3	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:107845853G>A	ENST00000285311.3	-	3	1083	c.378C>T	c.(376-378)atC>atT	p.I126I	DKK2_ENST00000510463.1_Silent_p.I80I|DKK2_ENST00000513208.1_Silent_p.I26I	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	126	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CTGGGATACAGATGCCTGGAG	0.403													81	102					0	0	0	0	A	107845853	G	A	107845853	2	1	3	1	0	0	0	0	0	0	0	1	4582	932	33	2		2	DKK2	4	107845853	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	528	107845853	83308423	120	496											
CASP6	839	broad.mit.edu	37	chr4	110610524	110610524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaatgcagctttttagttaGcattgaggcaaaacagggaa	15	10	11	5	0	0	1	0	1	0	0	0	3	0	2	0	2	4	5	0	2	6	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:110610524G>C	ENST00000265164.2	-	7	921	c.844C>G	c.(844-846)Cta>Gta	p.L282V	CASP6_ENST00000352981.3_Missense_Mutation_p.L193V|CASP6_ENST00000510324.1_5'UTR	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	282					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		TTTTTAGTTAGCATTGAGGCA	0.413													85	114					0	0	0	0	C	110610524	G	C	110610524	3	2	3	1	0	0	0	0	1	0	0	0	2700	962	34	4	41	4	CASP6	4	110610524	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	2764671	110610524	80543752	121	497											
ENPEP	2028	broad.mit.edu	37	chr4	111431455	111431455	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagacttgtggctaaatgaaGgatttgcttctttctttgag	10	16	10	5	0	2	3	0	2	2	1	2	4	2	4	0	2	1	2	0	2	4	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:111431455G>T	ENST00000265162.5	+	6	1591	c.1249G>T	c.(1249-1251)Gga>Tga	p.G417*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	417					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCTAAATGAAGGATTTGCTTC	0.373													54	80					1.1362e-29	1.49786e-29	1	0	T	111431455	G	T	111431455	4	4	3	1	0	0	0	0	0	1	0	0	5166	1001	35	4	1271	4	ENPEP	4	111431455	Nonsense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	820931	111431455	79722821	122	498											
ANK2	287	broad.mit.edu	37	chr4	114277866	114277866	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccttctccacttccatcaAgcatggactccaattccagt	9	12	4	16	0	2	0	1	0	1	0	7	1	6	1	5	1	1	1	5	1	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:114277866A>T	ENST00000357077.4	+	38	8145	c.8092A>T	c.(8092-8094)Agc>Tgc	p.S2698C	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2665C|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2665					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTTCCATCAAGCATGGACTC	0.443													60	91					0	0	0	0	T	114277866	A	T	114277866	3	4	3	1	0	0	0	0	1	0	0	0	621	72	3	5	8307	5	ANK2	4	114277866	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	2846411	114277866	76876410	123	499											
C4orf3	401152	broad.mit.edu	37	chr4	120221511	120221511	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggcaaaaaatacacaaaGagaaacaccaccacatcgaa	22	3	5	11	1	0	1	0	0	0	1	1	3	0	1	2	1	2	1	2	1	7	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:120221511G>C	ENST00000399075.4	-	2	578	c.579C>G	c.(577-579)ctC>ctG	p.L193L	C4orf3_ENST00000504110.1_Silent_p.L60L	NM_001170330.1	NP_001163801.1	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3	60						integral to membrane		p.L193L(1)		breast(1)|large_intestine(1)|lung(4)	6						AATACACAAAGAGAAACACCA	0.488													75	64					0	0	0	0	C	120221511	G	C	120221511	2	2	3	1	0	0	0	0	0	0	0	1	2281	929	33	2		2	C4orf3	4	120221511	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	5943645	120221511	70932765	124	500											
PCDH10	57575	broad.mit.edu	37	chr4	134076163	134076163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcatgatgccaccaacCgtgcccagtcagctggtaag	10	8	11	12	1	2	2	2	2	0	0	2	2	2	2	4	1	4	2	4	1	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:134076163C>A	ENST00000264360.4	+	3	3608	c.2782C>A	c.(2782-2784)Cgt>Agt	p.R928S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	928					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R928S(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGCCACCAACCGTGCCCAGTC	0.423													28	45					5.45727e-16	6.35324e-16	1	0	A	134076163	C	A	134076163	3	1	3	1	0	0	0	0	1	0	0	0	11578	652	23	3	2852	3	PCDH10	4	134076163	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	13854652	134076163	57078113	125	501											
DCHS2	54798	broad.mit.edu	37	chr4	155241774	155241774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccggtctgtcacattcacagCctgatcagatgctgttactg	8	12	9	12	1	4	2	3	1	1	1	4	2	4	2	2	1	3	2	2	1	1	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:155241774C>A	ENST00000357232.3	-	14	3411	c.3412G>T	c.(3412-3414)Gct>Tct	p.A1138S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1138	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACATTCACAGCCTGATCAGAT	0.458													100	139					9.45097e-43	1.36514e-42	1	0	A	155241774	C	A	155241774	3	1	3	1	0	0	0	0	1	0	0	0	4320	739	26	4	5386	4	DCHS2	4	155241774	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	21165611	155241774	35912502	126	502											
NPY5R	4889	broad.mit.edu	37	chr4	164272139	164272139	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaagtgtctgcagaagtatAagctgtggattgtccaacaa	14	10	10	7	0	1	1	0	0	1	1	2	2	2	2	1	1	3	3	1	1	6	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:164272139A>G	ENST00000515560.1	+	4	2236	c.714A>G	c.(712-714)atA>atG	p.I238M	NPY5R_ENST00000506953.1_Missense_Mutation_p.I238M|NPY5R_ENST00000338566.3_Missense_Mutation_p.I238M			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	238					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GCAGAAGTATAAGCTGTGGAT	0.368													58	90					0	0	0	0	G	164272139	A	G	164272139	3	3	3	1	0	0	0	0	1	0	0	0	10681	352	13	5	716	5	NPY5R	4	164272139	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	9030365	164272139	26882137	127	503											
GALNTL6	442117	broad.mit.edu	37	chr4	172735864	172735864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcagcggagcccggggagCagcaggtaagtgccacccag	10	3	16	12	2	1	0	1	0	0	0	1	2	1	2	3	4	5	3	3	4	1	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:172735864C>G	ENST00000506823.1	+	2	790	c.133C>G	c.(133-135)Cag>Gag	p.Q45E	GALNTL6_ENST00000511251.1_Missense_Mutation_p.Q45E	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	45						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.Q45K(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCCCGGGGAGCAGCAGGTAAG	0.547													17	48					0	0	0	0	G	172735864	C	G	172735864	3	3	3	1	0	0	0	0	1	0	0	0	6274	711	25	4	135	4	GALNTL6	4	172735864	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	8463725	172735864	18418412	128	504											
GALNTL6	442117	broad.mit.edu	37	chr4	173150916	173150916	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaagaggctatgcgctcagGtatgaagctcagtgtacgcc	11	8	13	9	2	2	2	2	1	0	1	2	3	2	2	1	2	3	5	1	2	5	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:173150916G>T	ENST00000506823.1	+	3	904		c.e3+1		GALNTL6_ENST00000508122.1_Splice_Site	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ATGCGCTCAGGTATGAAGCTC	0.448													16	17					4.7546e-09	5.09189e-09	1	0	T	173150916	G	T	173150916	5	4	3	1	0	0	0	0	0	0	1	0	6274	1275	44	4	254	4	GALNTL6	4	173150916	Splice_Site	SNP	G	TCGA-BA-4076-01A-01D-1434-08	415052	173150916	18003360	129	505											
DNAH5	1767	broad.mit.edu	37	chr5	13735961	13735961	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaataagcccagaaactGgcgaagcgaagtctgataca	16	6	10	9	2	2	2	1	1	1	1	2	4	2	2	1	1	4	0	1	1	6	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:13735961G>A	ENST00000265104.4	-	67	11640	c.11536C>T	c.(11536-11538)Cag>Tag	p.Q3846*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3846					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAGAAACTGGCGAAGCGAA	0.468									Kartagener syndrome				65	173					0	0	0	0	A	13735961	G	A	13735961	4	1	3	1	0	0	0	0	0	1	0	0	4641	1357	47	4	2390	4	DNAH5	5	13735961	Nonsense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08		13735961	167179299	130	506											
CDH10	1008	broad.mit.edu	37	chr5	24537586	24537586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgatcacaaactctgaCtctggctctactggcctcag	9	13	7	12	0	5	2	2	2	3	0	5	2	5	2	1	2	2	1	1	2	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:24537586C>T	ENST00000264463.4	-	3	936	c.429G>A	c.(427-429)gaG>gaA	p.E143E		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	143	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CAAACTCTGACTCTGGCTCTA	0.418										HNSCC(23;0.051)			94	123					0	0	0	0	T	24537586	C	T	24537586	2	4	3	1	0	0	0	0	0	0	0	1	3125	564	20	4		4	CDH10	5	24537586	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	10801625	24537586	156377674	131	507											
CDH9	1007	broad.mit.edu	37	chr5	26885967	26885967	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgagtcatgattcctgcTgtattatctgggggagaaaa	10	13	11	7	1	2	2	1	1	1	1	4	4	4	2	2	2	1	2	2	2	4	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:26885967T>C	ENST00000231021.4	-	11	1810	c.1638A>G	c.(1636-1638)acA>acG	p.T546T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	546	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGATTCCTGCTGTATTATCTG	0.308													37	78					0	0	0	0	C	26885967	T	C	26885967	2	2	3	1	0	0	0	0	0	0	0	1	3146	1567	55	5		5	CDH9	5	26885967	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08	2348381	26885967	154029293	132	508											
FYB	2533	broad.mit.edu	37	chr5	39153579	39153579	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacggaggtttaatgtttctGggaggtaggcttgggactgg	8	12	17	4	1	1	0	0	0	1	0	1	3	1	3	0	7	1	4	0	7	3	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:39153579G>C	ENST00000351578.6	-	3	1453	c.1263C>G	c.(1261-1263)ccC>ccG	p.P421P	FYB_ENST00000512982.1_Silent_p.P421P|FYB_ENST00000540520.1_Silent_p.P431P|FYB_ENST00000505428.1_Silent_p.P421P|FYB_ENST00000515010.1_Silent_p.P421P	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	421	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TAATGTTTCTGGGAGGTAGGC	0.488													115	184					0	0	0	0	C	39153579	G	C	39153579	2	2	3	1	0	0	0	0	0	0	0	1	6172	1335	47	4		4	FYB	5	39153579	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	12267612	39153579	141761681	133	509											
C6	729	broad.mit.edu	37	chr5	41201815	41201815	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttatctactactatttGtctgtaaccatgaagaagaa	14	14	6	7	0	2	3	0	1	2	2	2	3	2	3	1	0	4	2	1	0	9	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:41201815G>C	ENST00000263413.3	-	3	409	c.143_splice	c.e3-1	p.Q49_splice	C6_ENST00000337836.5_Splice_Site_p.Q49_splice	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	49	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTACTATTTGTCTGTAACCA	0.363													51	79					0	0	0	0	C	41201815	G	C	41201815	5	2	3	1	0	0	0	0	0	0	1	0	2336	1391	48	4	2723	4	C6	5	41201815	Splice_Site	SNP	G	TCGA-BA-4076-01A-01D-1434-08	2048236	41201815	139713445	134	510											
HCN1	348980	broad.mit.edu	37	chr5	45396681	45396681	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcatagcaggtggccccGacgatcatgctcagcatggt	9	8	13	11	2	2	0	2	0	0	0	2	2	2	0	2	4	3	4	2	4	1	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:45396681G>T	ENST00000303230.4	-	4	1200	c.1143C>A	c.(1141-1143)gtC>gtA	p.V381V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	381						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGTGGCCCCGACGATCATGC	0.507													43	63					1.32136e-16	1.54986e-16	1	0	T	45396681	G	T	45396681	2	4	3	1	0	0	0	0	0	0	0	1	7046	1045	37	3		3	HCN1	5	45396681	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	4194866	45396681	135518579	135	511											
RAB3C	115827	broad.mit.edu	37	chr5	58147124	58147124	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatcactgctgcaaagcaGaacacgagactcaaggaaac	16	4	9	12	1	2	2	2	0	0	2	2	4	2	3	1	1	5	3	1	1	4	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:58147124G>A	ENST00000282878.4	+	5	799	c.630G>A	c.(628-630)caG>caA	p.Q210Q	CTD-2176I21.2_ENST00000510198.1_RNA	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	210					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CTGCAAAGCAGAACACGAGAC	0.532													90	24					0	0	0	0	A	58147124	G	A	58147124	2	1	3	1	0	0	0	0	0	0	0	1	13015	933	33	2		2	RAB3C	5	58147124	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	12750443	58147124	122768136	136	512											
PCDHA6	56142	broad.mit.edu	37	chr5	140209242	140209242	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgtacgcgctgcagccGctggaccacgaggagctaga	10	5	15	11	4	0	1	0	0	0	1	0	4	0	3	2	3	4	5	2	3	3	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:140209242G>T	ENST00000529310.1	+	1	1680	c.1566G>T	c.(1564-1566)ccG>ccT	p.P522P	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.P522P|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGCTGGACCACG	0.682													139	26					9.62737e-85	1.47725e-84	1	0	T	140209242	G	T	140209242	2	4	3	1	0	0	0	0	0	0	0	1	11599	1074	38	3		3	PCDHA6	5	140209242	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	82062118	140209242	40706018	137	513											
PCDHA13	56136	broad.mit.edu	37	chr5	140262387	140262387	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggatcccaacgattatttCactttggacgcacaaaacag	13	10	7	11	2	1	0	1	0	0	0	2	3	2	2	1	2	2	1	1	2	4	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:140262387C>G	ENST00000289272.2	+	1	534	c.534C>G	c.(532-534)ttC>ttG	p.F178L	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.F178L|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGATTATTTCACTTTGGACG	0.433													118	21					0	0	0	0	G	140262387	C	G	140262387	3	3	3	1	0	0	0	0	1	0	0	0	11594	825	29	2	536	2	PCDHA13	5	140262387	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	53145	140262387	40652873	138	514											
PCDHB6	56130	broad.mit.edu	37	chr5	140531709	140531709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacaatggcgaggtgcgcaCcgccaggctgctgagcgagc	8	4	16	13	4	0	1	0	1	0	0	0	3	0	1	2	3	4	4	2	3	1	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:140531709C>A	ENST00000231136.1	+	1	1871	c.1871C>A	c.(1870-1872)aCc>aAc	p.T624N	PCDHB6_ENST00000543635.1_Missense_Mutation_p.T488N	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		624	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGTGCGCACCGCCAGGCTG	0.687													55	8					5.98616e-33	8.09689e-33	1	0	A	140531709	C	A	140531709	3	1	3	1	0	0	0	0	1	0	0	0	11617	507	18	4	1873	4	PCDHB6	5	140531709	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	269322	140531709	40383551	139	515											
GABRG2	2566	broad.mit.edu	37	chr5	161524815	161524815	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactggatcaccacccccAacaggatgctgagaatttgg	12	7	9	13	0	1	1	1	1	0	1	1	4	1	3	3	3	2	1	3	3	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:161524815A>T	ENST00000356592.3	+	4	959	c.499A>T	c.(499-501)Aac>Tac	p.N167Y	GABRG2_ENST00000414552.2_Missense_Mutation_p.N167Y|GABRG2_ENST00000393933.4_Missense_Mutation_p.N72Y|GABRG2_ENST00000361925.4_Missense_Mutation_p.N167Y	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	167					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CACCACCCCCAACAGGATGCT	0.423													136	17					0	0	0	0	T	161524815	A	T	161524815	3	4	3	1	0	0	0	0	1	0	0	0	6220	130	5	5	513	5	GABRG2	5	161524815	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	20993106	161524815	19390445	140	516											
ATXN1	6310	broad.mit.edu	37	chr6	16327496	16327496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgggtgaggaaccgacttgCcgcctgccttgcccaggccc	6	6	13	16	3	0	1	0	1	0	0	0	3	0	2	6	3	4	0	6	3	1	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:16327496C>T	ENST00000244769.4	-	8	1982	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	ATXN1_ENST00000436367.1_Missense_Mutation_p.G349D	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	349					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AACCGACTTGCCGCCTGCCTT	0.677													4	146					0	0	0	0	T	16327496	C	T	16327496	3	4	3	1	0	0	0	0	1	0	0	0	1213	739	26	4	1409	4	ATXN1	6	16327496	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08		16327496	154787571	141	517											
OR14J1	442191	broad.mit.edu	37	chr6	29274690	29274690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcttcatctctgtcaCagtcccccagtccattgcaa	7	12	5	17	0	4	0	2	0	2	0	7	0	6	0	4	0	2	2	4	0	1	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:29274690C>A	ENST00000377160.2	+	1	288	c.224C>A	c.(223-225)aCa>aAa	p.T75K		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ATCTCTGTCACAGTCCCCCAG	0.453													277	73					5.24693e-114	8.21259e-114	1	0	A	29274690	C	A	29274690	3	1	3	1	0	0	0	0	1	0	0	0	11019	478	17	4	226	4	OR14J1	6	29274690	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	12947194	29274690	141840377	142	518											
TREML2	79865	broad.mit.edu	37	chr6	41162312	41162312	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcattgctgggagacgcGgtcactgtctgggaccccat	6	9	14	12	2	2	1	1	0	1	1	2	3	2	2	2	4	1	2	2	4	0	1	rs141822677	byFrequency	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:41162312G>A	ENST00000483722.1	-	3	821	c.636C>T	c.(634-636)acC>acT	p.T212T		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	212					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.T271T(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGAGACGCGGTCACTGTCT	0.627													24	33					0	0	0	0	A	41162312	G	A	41162312	2	1	3	1	0	0	0	0	0	0	0	1	16568	1103	39	1		1	TREML2	6	41162312	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	11887622	41162312	129952755	143	519											
RCAN2	10231	broad.mit.edu	37	chr6	46191030	46191030	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtccctgcatggagctcatActtctctcctgaaaagcaag	11	10	8	12	0	2	1	1	1	1	0	5	2	4	2	2	1	4	3	2	1	4	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:46191030A>G	ENST00000371374.1	-	5	771	c.580T>C	c.(580-582)Tat>Cat	p.Y194H	RCAN2_ENST00000405162.1_Missense_Mutation_p.Y194H|RCAN2_ENST00000306764.7_Missense_Mutation_p.Y194H|RCAN2_ENST00000330430.6_Missense_Mutation_p.Y148H	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	148					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TGGAGCTCATACTTCTCTCCT	0.502													84	113					0	0	0	0	G	46191030	A	G	46191030	3	3	3	1	0	0	0	0	1	0	0	0	13251	391	14	5	155	5	RCAN2	6	46191030	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	5028718	46191030	124924037	144	520											
GPR116	221395	broad.mit.edu	37	chr6	46856179	46856179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgataggatccaggaaggatGcattttcaaaactgatctca	14	11	9	7	0	2	2	2	2	1	0	4	5	3	5	1	3	2	1	1	3	4	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:46856179G>T	ENST00000283296.7	-	4	509	c.221C>A	c.(220-222)gCa>gAa	p.A74E	GPR116_ENST00000362015.4_Missense_Mutation_p.A74E|GPR116_ENST00000456426.2_Missense_Mutation_p.A74E|GPR116_ENST00000265417.7_Missense_Mutation_p.A74E	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	74					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CAGGAAGGATGCATTTTCAAA	0.398													53	86					1.08114e-33	1.47514e-33	1	0	T	46856179	G	T	46856179	3	4	3	1	0	0	0	0	1	0	0	0	6682	1319	46	4	3891	4	GPR116	6	46856179	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	665149	46856179	124258888	145	521											
TFAP2D	83741	broad.mit.edu	37	chr6	50740375	50740375	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtttgatcactcatggctTtgggactccggcaatatgtg	8	13	11	9	1	2	1	2	1	0	0	3	2	3	2	1	3	0	3	1	3	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:50740375T>A	ENST00000008391.3	+	8	1385	c.1157T>A	c.(1156-1158)tTt>tAt	p.F386Y		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	386	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ACTCATGGCTTTGGGACTCCG	0.403													43	53					0	0	0	0	A	50740375	T	A	50740375	3	1	3	1	0	0	0	0	1	0	0	0	15884	1841	64	5	1187	5	TFAP2D	6	50740375	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	3884196	50740375	120374692	146	522											
PKHD1	5314	broad.mit.edu	37	chr6	51897833	51897833	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcacatattttacctgctAtattgcttatgtttctgctc	8	20	4	9	0	2	0	1	0	1	0	3	0	2	0	1	0	4	4	1	0	6	9			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:51897833A>G	ENST00000371117.3	-	29	3634	c.3359T>C	c.(3358-3360)aTa>aCa	p.I1120T	PKHD1_ENST00000340994.4_Missense_Mutation_p.I1120T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1120	IPT/TIG 6; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTACCTGCTATATTGCTTAT	0.363													52	76					0	0	0	0	G	51897833	A	G	51897833	3	3	3	1	0	0	0	0	1	0	0	0	12043	449	16	5	9060	5	PKHD1	6	51897833	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	1157458	51897833	119217234	147	523											
PKHD1	5314	broad.mit.edu	37	chr6	51947243	51947243	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaggaaagacgtcacaGggaacactccgcagtgcggg	15	3	13	10	3	1	1	1	0	0	1	2	3	2	3	1	3	3	1	1	3	4	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:51947243G>A	ENST00000371117.3	-	4	503	c.228C>T	c.(226-228)ccC>ccT	p.P76P	PKHD1_ENST00000340994.4_Silent_p.P76P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	76	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGACGTCACAGGGAACACTCC	0.502													94	139					0	0	0	0	A	51947243	G	A	51947243	2	1	3	1	0	0	0	0	0	0	0	1	12043	987	35	4		4	PKHD1	6	51947243	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	49410	51947243	119167824	148	524											
ZNF451	26036	broad.mit.edu	37	chr6	57017082	57017082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taactacctgaacaggattgGatgcttcttccttcatcctc	9	14	6	12	0	2	1	1	1	1	0	5	3	4	3	3	2	4	1	3	2	3	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:57017082G>T	ENST00000370706.4	+	12	3060	c.2816G>T	c.(2815-2817)gGa>gTa	p.G939V	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.G939V|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.G891V|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AACAGGATTGGATGCTTCTTC	0.353													58	99					2.76378e-25	3.52439e-25	1	0	T	57017082	G	T	57017082	3	4	3	1	0	0	0	0	1	0	0	0	18017	1174	41	2	2862	2	ZNF451	6	57017082	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	5069839	57017082	114097985	149	525											
EYS	346007	broad.mit.edu	37	chr6	66205107	66205107	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgattgcctgaagtatctAttttagtgtttacacccaaa	11	16	6	8	0	1	2	0	2	1	0	1	2	1	2	2	0	2	2	2	0	6	8			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:66205107A>T	ENST00000503581.1	-	4	734	c.197T>A	c.(196-198)aTa>aAa	p.I66K	EYS_ENST00000370621.3_Missense_Mutation_p.I66K|EYS_ENST00000393380.2_Missense_Mutation_p.I66K|EYS_ENST00000370616.2_Missense_Mutation_p.I66K|EYS_ENST00000370618.3_Missense_Mutation_p.I66K|EYS_ENST00000342421.5_Missense_Mutation_p.I66K	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	66					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGAAGTATCTATTTTAGTGTT	0.383													85	138					0	0	0	0	T	66205107	A	T	66205107	3	4	3	1	0	0	0	0	1	0	0	0	5370	449	16	5	9359	5	EYS	6	66205107	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	9188025	66205107	104909960	150	526											
FHL5	9457	broad.mit.edu	37	chr6	97052714	97052714	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtggaaaagccttttgctgCcaaggatgagcgcctgctgt	8	10	14	9	1	0	1	0	1	0	0	0	3	0	3	3	3	5	2	3	3	3	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:97052714C>G	ENST00000326771.2	+	4	628	c.248C>G	c.(247-249)gCc>gGc	p.A83G	FHL5_ENST00000541107.1_Missense_Mutation_p.A83G	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	83	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCTTTTGCTGCCAAGGATGAG	0.507													63	40					0	0	0	0	G	97052714	C	G	97052714	3	3	3	1	0	0	0	0	1	0	0	0	5926	739	26	4	254	4	FHL5	6	97052714	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	30847607	97052714	74062353	151	527											
FRK	2444	broad.mit.edu	37	chr6	116381174	116381174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcagccacgtagttagaagGaatatagccttgtagttgct	11	12	10	8	1	1	1	1	0	0	1	1	2	1	2	2	1	3	5	2	1	7	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:116381174G>A	ENST00000606080.1	-	1	747	c.301C>T	c.(301-303)Cct>Tct	p.P101S		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	101	SH3.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TAGTTAGAAGGAATATAGCCT	0.468													124	54					0	0	0	0	A	116381174	G	A	116381174	3	1	3	1	0	0	0	0	1	0	0	0	6096	1174	41	2	1248	2	FRK	6	116381174	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	19328460	116381174	54733893	152	528											
ENPP3	5169	broad.mit.edu	37	chr6	132004203	132004203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttttcaggtaattaaaGccttacaggtagtagatcat	13	16	7	5	0	2	1	2	0	0	1	2	1	2	1	1	2	2	3	1	2	7	8			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:132004203G>T	ENST00000414305.1	+	13	1349	c.1021G>T	c.(1021-1023)Gcc>Tcc	p.A341S	ENPP3_ENST00000358229.5_Missense_Mutation_p.A341S|ENPP3_ENST00000357639.3_Missense_Mutation_p.A341S|ENPP3_ENST00000427148.2_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	341	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGTAATTAAAGCCTTACAGGT	0.378													69	32					2.05175e-36	2.86633e-36	1	0	T	132004203	G	T	132004203	3	4	3	1	0	0	0	0	1	0	0	0	5169	971	34	4	1067	4	ENPP3	6	132004203	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	15623029	132004203	39110864	153	529											
MAP3K5	4217	broad.mit.edu	37	chr6	137015389	137015389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcaacttgtccttcgCtttgcaccatgggaatcata	10	12	8	11	1	1	1	1	1	0	0	3	2	2	2	2	1	3	3	2	1	4	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:137015389C>T	ENST00000359015.4	-	7	1502	c.1142G>A	c.(1141-1143)aGc>aAc	p.S381N		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	381					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTGTCCTTCGCTTTGCACCAT	0.388													56	253					0	0	0	0	T	137015389	C	T	137015389	3	4	3	1	0	0	0	0	1	0	0	0	9322	797	28	4	3078	4	MAP3K5	6	137015389	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	5011186	137015389	34099678	154	530											
KIAA1244	57221	broad.mit.edu	37	chr6	138550985	138550985	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgccgtgctgaagatcgCggaggtgagtactgcttgtg	7	10	17	7	3	0	3	0	2	0	1	1	5	0	4	1	2	4	3	1	2	2	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:138550985C>A	ENST00000251691.4	+	5	582	c.416C>A	c.(415-417)gCg>gAg	p.A139E		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	139					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)		CTGAAGATCGCGGAGGTGAGT	0.483													237	40					2.69678e-108	4.20698e-108	1	0	A	138550985	C	A	138550985	3	1	3	1	0	0	0	0	1	0	0	0	8268	768	27	3	434	3	KIAA1244	6	138550985	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	1535596	138550985	32564082	155	531											
LATS1	9113	broad.mit.edu	37	chr6	149997417	149997417	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatttgtgtttctaatggTgtttgtgccaagaaaggagg	9	16	12	4	0	2	1	1	0	1	1	2	2	2	2	1	3	1	2	1	3	3	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:149997417T>A	ENST00000543571.1	-	7	3409	c.2862A>T	c.(2860-2862)acA>acT	p.T954T	LATS1_ENST00000253339.5_Silent_p.T954T|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	954	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTCTAATGGTGTTTGTGCCA	0.353													36	51					0	0	0	0	A	149997417	T	A	149997417	2	1	3	1	0	0	0	0	0	0	0	1	8699	1683	59	5		5	LATS1	6	149997417	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08	11446432	149997417	21117650	156	532											
SYNE1	23345	broad.mit.edu	37	chr6	152464762	152464762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggccaggatacttacgtagCctttgtagctggtgtctagc	7	13	12	9	1	1	0	0	0	1	0	1	1	1	1	2	3	5	3	2	3	5	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:152464762C>T	ENST00000367255.5	-	138	25716	c.25115G>A	c.(25114-25116)gGc>gAc	p.G8372D	SYNE1_ENST00000356820.4_Missense_Mutation_p.G2896D|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.G7984D|SYNE1_ENST00000448038.1_Missense_Mutation_p.G8324D|SYNE1_ENST00000423061.1_Missense_Mutation_p.G8324D|SYNE1_ENST00000354674.4_Missense_Mutation_p.G550D|SYNE1_ENST00000539504.1_Missense_Mutation_p.G527D|SYNE1_ENST00000265368.4_Missense_Mutation_p.G8372D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8372					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTTACGTAGCCTTTGTAGCT	0.507										HNSCC(10;0.0054)			93	159					0	0	0	0	T	152464762	C	T	152464762	3	4	3	1	0	0	0	0	1	0	0	0	15536	739	26	4	1314	4	SYNE1	6	152464762	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	2467345	152464762	18650305	157	533											
MYCT1	80177	broad.mit.edu	37	chr6	153043007	153043007	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcacagtggagttcaagCaggagatctaggtcttctta	11	12	10	8	0	5	1	2	0	4	1	6	3	5	2	0	3	1	2	0	3	3	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:153043007C>G	ENST00000367245.5	+	2	335	c.327C>G	c.(325-327)agC>agG	p.S109R	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	109						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GGAGTTCAAGCAGGAGATCTA	0.517													84	103					0	0	0	0	G	153043007	C	G	153043007	3	3	3	1	0	0	0	0	1	0	0	0	10092	709	25	4	333	4	MYCT1	6	153043007	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	578245	153043007	18072060	158	534											
FRMD1	79981	broad.mit.edu	37	chr6	168464322	168464322	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgggcacgtcctccagccGgcaggcctcctggatgaagc	7	5	13	16	3	0	1	0	1	0	0	3	2	3	2	5	4	2	2	5	4	1	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:168464322G>T	ENST00000283309.6	-	6	827	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	FRMD1_ENST00000537786.1_Silent_p.R26R|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Silent_p.R187R	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	255	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TCCTCCAGCCGGCAGGCCTCC	0.667													27	56					2.48779e-11	2.71396e-11	1	0	T	168464322	G	T	168464322	2	4	3	1	0	0	0	0	0	0	0	1	6097	1115	39	3		3	FRMD1	6	168464322	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	15421315	168464322	2650745	159	535											
INTS1	26173	broad.mit.edu	37	chr7	1539130	1539130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacccaggtcgcccgcaaCgcggcccgcctccccctgca	5	4	10	22	5	0	0	0	0	0	0	2	0	1	0	6	2	3	3	6	2	1	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:1539130C>T	ENST00000389470.4	-	7	1206	c.1207G>A	c.(1207-1209)Gtt>Att	p.V403I	INTS1_ENST00000404767.3_Missense_Mutation_p.V275I			Q8N201	INT1_HUMAN	integrator complex subunit 1	275					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCGCCCGCAACGCGGCCCGCC	0.682													6	23					0	0	0	0	T	1539130	C	T	1539130	3	4	3	1	0	0	0	0	1	0	0	0	7828	536	19	1	5921	1	INTS1	7	1539130	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08		1539130	157599533	160	536											
MACC1	346389	broad.mit.edu	37	chr7	20198179	20198179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtccaatcttacctctgAggactcctacataccattct	11	12	4	14	0	3	1	0	1	3	0	5	2	5	2	4	1	3	0	4	1	5	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:20198179A>G	ENST00000400331.5	-	5	2113	c.1805T>C	c.(1804-1806)cTc>cCc	p.L602P	MACC1_ENST00000332878.4_Missense_Mutation_p.L602P|MACC1_ENST00000589011.1_Missense_Mutation_p.L602P	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	602	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTTACCTCTGAGGACTCCTAC	0.393													453	52					0	0	0	0	G	20198179	A	G	20198179	3	3	3	1	0	0	0	0	1	0	0	0	9208	304	11	5	765	5	MACC1	7	20198179	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	18659049	20198179	138940484	161	537											
KLHL7	55975	broad.mit.edu	37	chr7	23163426	23163426	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgtgatcctcatggtcCaggaaagaaagatacctgct	12	9	11	9	1	1	4	1	2	0	2	3	5	3	5	3	2	2	1	3	2	3	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:23163426C>G	ENST00000322231.7	+	3	575	c.85C>G	c.(85-87)Cag>Gag	p.Q29E	KLHL7_ENST00000410047.1_Missense_Mutation_p.Q29E|KLHL7_ENST00000545771.1_Missense_Mutation_p.Q29E|KLHL7_ENST00000339077.4_Missense_Mutation_p.Q51E|KLHL7_ENST00000409689.1_Missense_Mutation_p.Q3E|KLHL7_ENST00000545443.1_Missense_Mutation_p.Q29E|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000322275.5_Missense_Mutation_p.Q51E			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	51						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCTCATGGTCCAGGAAAGAAA	0.363													105	12					0	0	0	0	G	23163426	C	G	23163426	3	3	3	1	0	0	0	0	1	0	0	0	8446	595	21	4	157	4	KLHL7	7	23163426	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	2965247	23163426	135975237	162	538											
ELMO1	9844	broad.mit.edu	37	chr7	37355565	37355565	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgcagacagtggttttttCtgcaaaataacaaaaaagga	17	11	8	5	0	1	1	0	0	1	1	1	2	1	2	0	2	3	3	0	2	6	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:37355565C>T	ENST00000310758.4	-	3	726		c.e3-1		ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1						actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTGGTTTTTTCTGCAAAATAA	0.284													353	54					0	0	0	0	T	37355565	C	T	37355565	5	4	3	1	0	0	0	0	0	0	1	0	5103	927	32	2	2185	2	ELMO1	7	37355565	Splice_Site	SNP	C	TCGA-BA-4076-01A-01D-1434-08	14192139	37355565	121783098	163	539											
EPDR1	54749	broad.mit.edu	37	chr7	37960496	37960496	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcccggacgcctcagcgcCcccttgggcttgggcttgcc	3	8	13	17	3	1	0	1	0	0	0	2	2	2	1	5	3	2	2	5	3	0	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:37960496C>A	ENST00000559325.1	+	1	334	c.315C>A	c.(313-315)gcC>gcA	p.A105A	EPDR1_ENST00000199448.4_5'UTR|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_5'UTR			Q9UM22	EPDR1_HUMAN	ependymin related 1	0					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GCCTCAGCGCCCCCTTGGGCT	0.721													40	5					3.86002e-21	4.74144e-21	1	0	A	37960496	C	A	37960496	2	1	3	1	0	0	0	0	0	0	0	1	5201	610	22	4		4	EPDR1	7	37960496	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	604931	37960496	121178167	164	540											
CCDC132	55610	broad.mit.edu	37	chr7	92902042	92902042	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcgacttcttggaaaaacAcaggtttgttacaaaaggat	15	12	8	6	1	1	0	0	0	1	0	2	3	1	2	0	3	2	2	0	3	6	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:92902042A>G	ENST00000544910.1	+	12	928	c.708A>G	c.(706-708)acA>acG	p.T236T	CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000305866.5_Silent_p.T266T|CCDC132_ENST00000541136.1_Silent_p.T77T|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Silent_p.T266T	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	266										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGGAAAAACACAGGTTTGTT	0.333													24	53					0	0	0	0	G	92902042	A	G	92902042	2	3	3	1	0	0	0	0	0	0	0	1	2792	146	6	5		5	CCDC132	7	92902042	Silent	SNP	A	TCGA-BA-4076-01A-01D-1434-08	54941546	92902042	66236621	165	541											
PPP1R9A	55607	broad.mit.edu	37	chr7	94740679	94740679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgtgtagaaaagctggaaCttttcccagtggagctagag	13	9	12	7	1	0	2	0	0	0	2	1	4	1	4	1	2	4	3	1	2	6	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:94740679C>A	ENST00000289495.5	+	2	1720	c.1504C>A	c.(1504-1506)Ctt>Att	p.L502I	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.L502I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.L502I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.L502I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.L502I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.L502I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	502	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAGCTGGAACTTTTCCCAGT	0.388										HNSCC(28;0.073)			26	51					7.4402e-23	9.3102e-23	1	0	A	94740679	C	A	94740679	3	1	3	1	0	0	0	0	1	0	0	0	12454	565	20	4	1510	4	PPP1R9A	7	94740679	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	1838637	94740679	64397984	166	542											
LAMB4	22798	broad.mit.edu	37	chr7	107669526	107669526	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctctgtatctccagccAatttttctgccgcatctttt	5	17	6	13	1	4	0	0	0	4	0	5	0	4	0	4	1	2	2	4	1	2	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:107669526A>G	ENST00000388781.3	-	33	5191	c.5108T>C	c.(5107-5109)tTg>tCg	p.L1703S	LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000388780.3_Missense_Mutation_p.L1703S|LAMB4_ENST00000205386.4_Missense_Mutation_p.L1703S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1703	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATCTCCAGCCAATTTTTCTGC	0.363													48	21					0	0	0	0	G	107669526	A	G	107669526	3	3	3	1	0	0	0	0	1	0	0	0	8666	131	5	5	185	5	LAMB4	7	107669526	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	12928847	107669526	51469137	167	543											
FLNC	2318	broad.mit.edu	37	chr7	128478683	128478683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactggcgatgttgctgtgGtgatcgtggacccacagggc	6	9	16	10	2	0	1	0	1	0	0	1	3	0	2	1	4	1	3	1	4	0	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:128478683G>C	ENST00000325888.8	+	8	1498	c.1237G>C	c.(1237-1239)Gtg>Ctg	p.V413L	FLNC_ENST00000346177.6_Missense_Mutation_p.V413L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	413					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						TGTTGCTGTGGTGATCGTGGA	0.657													56	27					0	0	0	0	C	128478683	G	C	128478683	3	2	3	1	0	0	0	0	1	0	0	0	5980	1261	44	4	1267	4	FLNC	7	128478683	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	20809157	128478683	30659980	168	544											
AHCYL2	23382	broad.mit.edu	37	chr7	129045020	129045020	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaaacagaaatttgacAacctctactgttgccgtgaa	14	10	6	11	1	2	3	1	2	1	1	2	3	2	3	3	0	4	1	3	0	5	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:129045020A>T	ENST00000325006.3	+	8	1162	c.1108A>T	c.(1108-1110)Aac>Tac	p.N370Y	AHCYL2_ENST00000490911.1_Missense_Mutation_p.N267Y|AHCYL2_ENST00000446212.1_Missense_Mutation_p.N268Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.N289Y|AHCYL2_ENST00000474594.1_Missense_Mutation_p.N267Y|AHCYL2_ENST00000446544.2_Missense_Mutation_p.N369Y	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	370					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GAAATTTGACAACCTCTACTG	0.423													109	47					0	0	0	0	T	129045020	A	T	129045020	3	4	3	1	0	0	0	0	1	0	0	0	411	130	5	5	1260	5	AHCYL2	7	129045020	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	566337	129045020	30093643	169	545											
OR2F2	135948	broad.mit.edu	37	chr7	143633045	143633045	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagaaagccttccacacGtgtgcctctcacctcacggt	11	8	8	14	2	2	2	2	0	1	2	4	2	3	2	4	1	2	0	4	1	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:143633045G>T	ENST00000408955.2	+	1	787	c.720G>T	c.(718-720)acG>acT	p.T240T		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCTTCCACACGTGTGCCTCTC	0.517													46	26					1.76056e-25	2.26357e-25	1	0	T	143633045	G	T	143633045	2	4	3	1	0	0	0	0	0	0	0	1	11068	1132	40	3		3	OR2F2	7	143633045	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	14588025	143633045	15505618	170	546											
CNTNAP2	26047	broad.mit.edu	37	chr7	146741062	146741062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattacagcatccgattattGcccgctatgtgcgcatagtg	10	12	9	10	3	0	0	0	0	0	0	1	1	1	0	2	0	4	3	2	0	5	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:146741062G>A	ENST00000361727.3	+	4	982	c.466G>A	c.(466-468)Gcc>Acc	p.A156T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	156	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCGATTATTGCCCGCTATGT	0.428										HNSCC(39;0.1)			62	37					0	0	0	0	A	146741062	G	A	146741062	3	1	3	1	0	0	0	0	1	0	0	0	3677	1319	46	4	480	4	CNTNAP2	7	146741062	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	3108017	146741062	12397601	171	547											
CSMD1	64478	broad.mit.edu	37	chr8	2832134	2832134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggcagggacccctgggtgtCcacacgatatagcttcagaa	10	8	12	11	1	1	1	1	0	0	1	2	3	2	2	3	3	1	2	3	3	3	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:2832134C>T	ENST00000520002.1	-	57	9137	c.8582G>A	c.(8581-8583)gGa>gAa	p.G2861E	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2803E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2803E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2861E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2802E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2860E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2861	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCTGGGTGTCCACACGATAT	0.498													6	20					0	0	0	0	T	2832134	C	T	2832134	3	4	3	1	0	0	0	0	1	0	0	0	3976	855	30	2	2175	2	CSMD1	8	2832134	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08		2832134	143531888	172	548											
OPRK1	4986	broad.mit.edu	37	chr8	54163409	54163409	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacactacggagtagaccgcCgtgatgatgaccgggatggc	11	6	14	10	4	0	4	0	3	0	1	0	6	0	6	3	3	2	1	3	3	3	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:54163409C>G	ENST00000265572.3	-	2	486	c.189G>C	c.(187-189)acG>acC	p.T63T	OPRK1_ENST00000520287.1_Silent_p.T63T	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	63					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGTAGACCGCCGTGATGATGA	0.692													27	10					0	0	0	0	G	54163409	C	G	54163409	2	3	3	1	0	0	0	0	0	0	0	1	10956	639	23	3		3	OPRK1	8	54163409	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	51331275	54163409	92200613	173	549											
JPH1	56704	broad.mit.edu	37	chr8	75227756	75227756	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgaggccagcgaggtaCgcagcggtgagcggatcacc	9	3	17	12	5	1	1	1	1	0	0	1	4	1	2	2	4	5	3	2	4	1	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:75227756C>G	ENST00000342232.4	-	2	519	c.479G>C	c.(478-480)cGt>cCt	p.R160P		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	160					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CAGCGAGGTACGCAGCGGTGA	0.731													16	7					0	0	0	0	G	75227756	C	G	75227756	3	3	3	1	0	0	0	0	1	0	0	0	8013	536	19	3	1522	3	JPH1	8	75227756	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	21064347	75227756	71136266	174	550											
ZFHX4	79776	broad.mit.edu	37	chr8	77775753	77775753	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgccatactttatccCtgggtttgcttcttatttta	5	21	6	9	0	2	0	0	0	2	0	3	0	3	0	2	1	3	3	2	1	4	10			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:77775753C>G	ENST00000521891.2	+	11	10251	c.9803C>G	c.(9802-9804)cCt>cGt	p.P3268R	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3242R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3223R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3219R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3219						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACTTTATCCCTGGGTTTGCT	0.493										HNSCC(33;0.089)			66	31					0	0	0	0	G	77775753	C	G	77775753	3	3	3	1	0	0	0	0	1	0	0	0	17730	681	24	4	9841	4	ZFHX4	8	77775753	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	2547997	77775753	68588269	175	551											
VPS13B	157680	broad.mit.edu	37	chr8	100146859	100146859	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatattcttatatttcttaGctcacagaaatgcaagttga	14	16	5	6	0	3	2	1	1	2	1	3	2	3	2	0	0	2	3	0	0	7	8			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:100146859G>T	ENST00000395996.1	+	9	1317		c.e9-1		VPS13B_ENST00000358544.2_Splice_Site|VPS13B_ENST00000357162.2_Splice_Site|VPS13B_ENST00000355155.1_Splice_Site			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATATTTCTTAGCTCACAGAAA	0.279													21	44					1.96292e-10	2.12159e-10	1	0	T	100146859	G	T	100146859	5	4	3	1	0	0	0	0	0	0	1	0	17286	985	34	4	1278	4	VPS13B	8	100146859	Splice_Site	SNP	G	TCGA-BA-4076-01A-01D-1434-08	22371106	100146859	46217163	176	552											
YWHAZ	7534	broad.mit.edu	37	chr8	101936241	101936241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttgtatgactcttcaCttaatgtatcaagttcagca	10	17	6	8	0	5	1	3	1	2	0	5	1	5	1	0	0	1	4	0	0	4	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:101936241C>A	ENST00000395957.2	-	6	961	c.620G>T	c.(619-621)aGt>aTt	p.S207I	YWHAZ_ENST00000419477.2_Missense_Mutation_p.S207I|YWHAZ_ENST00000395956.3_Missense_Mutation_p.S207I|YWHAZ_ENST00000457309.1_Missense_Mutation_p.S207I|YWHAZ_ENST00000395958.2_Missense_Mutation_p.S207I|YWHAZ_ENST00000395951.3_Missense_Mutation_p.S207I|YWHAZ_ENST00000353245.3_Missense_Mutation_p.S207I|YWHAZ_ENST00000522819.1_Missense_Mutation_p.S87I|YWHAZ_ENST00000395953.2_Missense_Mutation_p.S207I|YWHAZ_ENST00000395948.2_Missense_Mutation_p.S130I|YWHAZ_ENST00000522542.1_Missense_Mutation_p.S132I|YWHAZ_ENST00000521309.1_Missense_Mutation_p.S87I			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	207					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	TGACTCTTCACTTAATGTATC	0.333													92	114					8.92586e-32	1.19694e-31	1	0	A	101936241	C	A	101936241	3	1	3	1	0	0	0	0	1	0	0	0	17602	565	20	4	125	4	YWHAZ	8	101936241	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	1789382	101936241	44427781	177	553											
PKHD1L1	93035	broad.mit.edu	37	chr8	110468491	110468491	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgtgtatgttggttctagGtgtgcctgttcctgtgacct	4	17	13	7	0	1	1	0	1	1	0	2	1	2	1	3	2	1	4	3	2	2	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:110468491G>C	ENST00000378402.5	+	46	6979	c.6874_splice	c.e46-1	p.G2292_splice		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2292	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGTTCTAGGTGTGCCTGTT	0.373										HNSCC(38;0.096)			12	43					0	0	0	0	C	110468491	G	C	110468491	5	2	3	1	0	0	0	0	0	0	1	0	12044	1275	44	4	7057	4	PKHD1L1	8	110468491	Splice_Site	SNP	G	TCGA-BA-4076-01A-01D-1434-08	8532250	110468491	35895531	178	554											
PKHD1L1	93035	broad.mit.edu	37	chr8	110509268	110509268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggatttaccatttggaCatgctgggattatggaattt	12	14	10	5	0	0	0	0	0	0	0	0	4	0	4	1	4	2	1	1	4	4	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:110509268C>A	ENST00000378402.5	+	64	10552	c.10448C>A	c.(10447-10449)aCa>aAa	p.T3483K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3483					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCATTTGGACATGCTGGGAT	0.338										HNSCC(38;0.096)			56	137					4.25531e-23	5.33911e-23	1	0	A	110509268	C	A	110509268	3	1	3	1	0	0	0	0	1	0	0	0	12044	478	17	4	10702	4	PKHD1L1	8	110509268	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	40777	110509268	35854754	179	555											
MYC	4609	broad.mit.edu	37	chr8	128753024	128753024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgccctgcgtgaccaGatcccggagttggaaaacaa	10	11	10	10	2	0	2	0	1	0	1	1	4	1	4	3	2	3	1	3	2	3	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:128753024G>T	ENST00000377970.2	+	3	1695	c.1185G>T	c.(1183-1185)caG>caT	p.Q395H	MYC_ENST00000524013.1_Missense_Mutation_p.Q394H	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	380	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q380Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		TGCGTGACCAGATCCCGGAGT	0.517		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"								94	314					2.76703e-59	4.16389e-59	1	0	T	128753024	G	T	128753024	3	4	3	1	0	0	0	0	1	0	0	0	10086	933	33	2	1195	2	MYC	8	128753024	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	18243756	128753024	17610998	180	556											
TSNARE1	203062	broad.mit.edu	37	chr8	143396415	143396415	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgagagctgggttttcagCcggtccagctgaggacgctc	6	10	14	11	2	2	2	1	2	1	1	4	4	3	3	2	3	3	4	2	3	0	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:143396415C>T	ENST00000519651.1	-	6	466	c.363G>A	c.(361-363)cgG>cgA	p.R121R	TSNARE1_ENST00000520166.1_Silent_p.R340R|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000307180.3_Silent_p.R341R|TSNARE1_ENST00000524325.1_Silent_p.R340R			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	341					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGTTTTCAGCCGGTCCAGCT	0.657													5	147					0	0	0	0	T	143396415	C	T	143396415	2	4	3	1	0	0	0	0	0	0	0	1	16725	726	26	4		4	TSNARE1	8	143396415	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	14643391	143396415	2967607	181	557											
BAI1	575	broad.mit.edu	37	chr8	143558514	143558514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtccccgtggagcgtgtGctccagcacctgcggcgagg	4	7	17	13	4	0	0	0	0	0	0	2	2	2	1	4	4	4	2	4	4	0	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:143558514G>A	ENST00000517894.1	+	5	1991	c.1097G>A	c.(1096-1098)tGc>tAc	p.C366Y	BAI1_ENST00000323289.5_Missense_Mutation_p.C366Y			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	366	TSP type-1 2.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGGAGCGTGTGCTCCAGCACC	0.716													11	24					0	0	0	0	A	143558514	G	A	143558514	3	1	3	1	0	0	0	0	1	0	0	0	1302	1319	46	4	1111	4	BAI1	8	143558514	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	162099	143558514	2805508	182	558											
FBXL6	26233	broad.mit.edu	37	chr8	145579649	145579649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagtgcttggtgtgaccCgggtgcccctgaggttaaga	7	10	15	9	1	0	4	0	3	0	1	0	4	0	4	3	3	2	2	3	3	1	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:145579649C>T	ENST00000331890.5	-	8	1515	c.1451G>A	c.(1450-1452)cGg>cAg	p.R484Q	FBXL6_ENST00000526524.1_Intron|FBXL6_ENST00000455319.2_Missense_Mutation_p.R478Q	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	484					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGGTGTGACCCGGGTGCCCCT	0.632													10	255					0	0	0	0	T	145579649	C	T	145579649	3	4	3	1	0	0	0	0	1	0	0	0	5768	652	23	1	176	1	FBXL6	8	145579649	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	2021135	145579649	784373	183	559											
FAM122A	116224	broad.mit.edu	37	chr9	71395259	71395259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcgccgagcgccaggcGgaacagcacaacgttcccga	10	2	14	15	7	0	0	0	0	0	0	1	4	1	1	3	3	4	2	3	3	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:71395259G>T	ENST00000394264.3	+	1	296	c.179G>T	c.(178-180)cGg>cTg	p.R60L	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	60										endometrium(1)|lung(2)	3						AGCGCCAGGCGGAACAGCACA	0.697													77	11					1.36236e-49	2.00499e-49	1	0	T	71395259	G	T	71395259	3	4	3	1	0	0	0	0	1	0	0	0	5460	1116	39	3	181	3	FAM122A	9	71395259	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08		71395259	69818172	184	560											
RNF20	56254	broad.mit.edu	37	chr9	104319794	104319794	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttcaagctcatgtcagaGcgtatcaagtccaatcagat	14	11	7	9	1	5	2	5	0	0	2	6	2	6	2	1	0	2	2	1	0	5	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:104319794G>A	ENST00000389120.3	+	16	2388	c.2298G>A	c.(2296-2298)gaG>gaA	p.E766E		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	766					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCATGTCAGAGCGTATCAAGT	0.453													77	13					0	0	0	0	A	104319794	G	A	104319794	2	1	3	1	0	0	0	0	0	0	0	1	13558	962	34	4		4	RNF20	9	104319794	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	32924535	104319794	36893637	185	561											
SLC44A1	23446	broad.mit.edu	37	chr9	108136948	108136948	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaggatgcctttgtcattCtggtggagaatgctttgcga	9	13	12	7	1	2	1	1	0	1	1	2	4	2	2	1	3	3	1	1	3	2	3	rs71823325		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:108136948C>G	ENST00000374720.3	+	13	1811	c.1564C>G	c.(1564-1566)Ctg>Gtg	p.L522V	SLC44A1_ENST00000374723.1_Missense_Mutation_p.L522V|SLC44A1_ENST00000343170.7_Missense_Mutation_p.L314V|SLC44A1_ENST00000374724.1_Missense_Mutation_p.L522V	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	522						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CTTTGTCATTCTGGTGGAGAA	0.418													100	135					0	0	0	0	G	108136948	C	G	108136948	3	3	3	1	0	0	0	0	1	0	0	0	14723	912	32	2	1614	2	SLC44A1	9	108136948	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	3817154	108136948	33076483	186	562											
FKBP15	23307	broad.mit.edu	37	chr9	115983487	115983487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacccgccgctcggcgagaGgaaatcggtgtcgtcctcgt	6	8	13	14	7	1	1	1	0	0	1	6	3	2	2	3	3	0	1	3	3	1	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:115983487G>A	ENST00000238256.3	-	1	154	c.37C>T	c.(37-39)Ctc>Ttc	p.L13F		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	13					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTCGGCGAGAGGAAATCGGTG	0.627													25	5					0	0	0	0	A	115983487	G	A	115983487	3	1	3	1	0	0	0	0	1	0	0	0	5950	1000	35	4	3734	4	FKBP15	9	115983487	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	7846539	115983487	25229944	187	563											
OR1J2	26740	broad.mit.edu	37	chr9	125273992	125273992	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggcccttgggaaactCttcagtagagcaacattttt	13	11	9	8	0	2	2	1	0	1	2	2	3	2	3	1	2	3	2	1	2	4	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:125273992C>A	ENST00000335302.5	+	1	912	c.912C>A	c.(910-912)ctC>ctA	p.L304L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TTGGGAAACTCTTCAGTAGAG	0.383													93	21					3.59392e-34	4.96152e-34	1	0	A	125273992	C	A	125273992	2	1	3	1	0	0	0	0	0	0	0	1	11031	900	32	2		2	OR1J2	9	125273992	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	9290505	125273992	15939439	188	564											
BARHL1	56751	broad.mit.edu	37	chr9	135464656	135464656	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtcgggttggagctgcTggcggaggcaggcaattact	6	8	18	9	3	0	0	0	0	0	0	1	2	0	2	1	7	3	5	1	7	2	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:135464656T>A	ENST00000263610.2	+	3	1344	c.731T>A	c.(730-732)cTg>cAg	p.L244Q	BARHL1_ENST00000542090.1_Missense_Mutation_p.L244Q	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	244						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TTGGAGCTGCTGGCGGAGGCA	0.632													178	22					0	0	0	0	A	135464656	T	A	135464656	3	1	3	1	0	0	0	0	1	0	0	0	1317	1580	55	5	741	5	BARHL1	9	135464656	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	10190664	135464656	5748775	189	565											
DBH	1621	broad.mit.edu	37	chr9	136505046	136505046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgcaggtgcagaggaccCcagaaggcctgaccctgctt	8	7	13	13	0	0	3	0	1	0	2	0	4	0	4	4	3	4	4	4	3	1	1	rs78929918		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:136505046C>A	ENST00000393056.2	+	2	430	c.418C>A	c.(418-420)Cca>Aca	p.P140T		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	140	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GCAGAGGACCCCAGAAGGCCT	0.617													26	8					4.87955e-14	5.52937e-14	1	0	A	136505046	C	A	136505046	3	1	3	1	0	0	0	0	1	0	0	0	4283	623	22	4	424	4	DBH	9	136505046	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	1040390	136505046	4708385	190	566											
NOTCH1	4851	broad.mit.edu	37	chr9	139412204	139412204	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccccggccgacgcacCgggcatgcagatgcactgga	7	4	14	16	4	0	1	0	0	0	1	0	3	0	2	5	4	2	4	5	4	0	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:139412204C>A	ENST00000277541.6	-	8	1516	c.1441_splice	c.e8+1	p.G481_splice		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	481	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G481S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGACGCACCGGGCATGCAG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			48	14					1.07234e-20	1.31376e-20	1	0	A	139412204	C	A	139412204	5	1	3	1	0	0	0	0	0	0	1	0	10617	666	23	3	6334	3	NOTCH1	9	139412204	Splice_Site	SNP	C	TCGA-BA-4076-01A-01D-1434-08	2907158	139412204	1801227	191	567											
SLC39A12	221074	broad.mit.edu	37	chr10	18254530	18254530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtccctccagggtgtttGtctgggacaaggaaacttgc	7	13	12	9	0	1	0	0	0	1	0	3	2	3	2	2	3	2	1	2	3	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:18254530G>T	ENST00000377369.2	+	4	935	c.662G>T	c.(661-663)tGt>tTt	p.C221F	SLC39A12_ENST00000377371.3_Missense_Mutation_p.C221F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.C221F|SLC39A12_ENST00000539911.1_Missense_Mutation_p.C87F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	221					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CAGGGTGTTTGTCTGGGACAA	0.443													48	51					2.0833e-19	2.50639e-19	1	0	T	18254530	G	T	18254530	3	4	3	1	0	0	0	0	1	0	0	0	14703	1377	48	4	672	4	SLC39A12	10	18254530	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08		18254530	117280217	192	568											
PTF1A	256297	broad.mit.edu	37	chr10	23482812	23482812	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaacaacatagaaaacgaaCcaccatttgagtttgtgtcc	15	10	6	10	1	1	2	1	1	0	1	2	3	2	2	3	0	4	1	3	0	6	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:23482812C>A	ENST00000376504.3	+	2	1168	c.964C>A	c.(964-966)Cca>Aca	p.P322T		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	322					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						AGAAAACGAACCACCATTTGA	0.398													57	113					9.16383e-17	1.07756e-16	1	0	A	23482812	C	A	23482812	3	1	3	1	0	0	0	0	1	0	0	0	12819	507	18	4	970	4	PTF1A	10	23482812	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	5228282	23482812	112051935	193	569											
KIAA1217	56243	broad.mit.edu	37	chr10	24802317	24802317	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcctagtggagcaagagAgacaaaaatatcttcatgag	15	8	11	7	1	2	3	1	1	1	2	3	5	3	4	1	1	1	1	1	1	5	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:24802317A>T	ENST00000376451.2	+	5	1440	c.1180A>T	c.(1180-1182)Aga>Tga	p.R394*	KIAA1217_ENST00000376452.3_Nonsense_Mutation_p.R676*|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.R711*|KIAA1217_ENST00000458595.1_Nonsense_Mutation_p.R676*|KIAA1217_ENST00000430453.2_Nonsense_Mutation_p.R597*|KIAA1217_ENST00000307544.6_Nonsense_Mutation_p.R394*|KIAA1217_ENST00000396446.1_Nonsense_Mutation_p.R394*|KIAA1217_ENST00000376462.1_Nonsense_Mutation_p.R631*|KIAA1217_ENST00000396445.1_Nonsense_Mutation_p.R394*			Q5T5P2	SKT_HUMAN	KIAA1217	711					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGAGCAAGAGAGACAAAAATA	0.473											OREG0020076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	53					0	0	0	0	T	24802317	A	T	24802317	4	4	3	1	0	0	0	0	0	1	0	0	8267	296	11	5	2169	5	KIAA1217	10	24802317	Nonsense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	1319505	24802317	110732430	194	570											
GPR158	57512	broad.mit.edu	37	chr10	25883321	25883321	+	Missense_Mutation	SNP	C	C	A																															ccattgggttgcttttgattCcaaaggtattcttctaatat																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:25883321C>A	ENST00000376351.3	+	9	2352	c.1993C>A	c.(1993-1995)Cca>Aca	p.P665T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	665						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCTTTTGATTCCAAAGGTATT	0.338													44	98					1.15505e-17	1.36162e-17	1	0	A	25883321	C	A	25883321	3	1	3	1	0	0	0	0	1	0	0	0	6712	855	30	2	2027	2	GPR158	10	25883321	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	1081004	25883321	109651426	195	571	10	2									
GPR158	57512	broad.mit.edu	37	chr10	25883322	25883322	+	Missense_Mutation	SNP	C	C	A																															cattgggttgcttttgattcCaaaggtattcttctaatatt																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:25883322C>A	ENST00000376351.3	+	9	2353	c.1994C>A	c.(1993-1995)cCa>cAa	p.P665Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	665						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTTTTGATTCCAAAGGTATTC	0.338													43	100					1.15505e-17	1.36162e-17	1	0	A	25883322	C	A	25883322	3	1	3	1	0	0	0	0	1	0	0	0	6712	594	21	4	2028	4	GPR158	10	25883322	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	1	25883322	109651425	196	572	10	2									
ARMC4	55130	broad.mit.edu	37	chr10	28284017	28284017	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgatttcgaggattcCagttccatgtccggcagcag	8	10	14	9	2	0	1	0	1	0	0	4	3	3	2	3	4	1	3	3	4	0	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:28284017C>A	ENST00000305242.5	-	2	147	c.55G>T	c.(55-57)Gga>Tga	p.G19*		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	19							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCGAGGATTCCAGTTCCATGT	0.453													33	48					1.45844e-13	1.64867e-13	1	0	A	28284017	C	A	28284017	4	1	3	1	0	0	0	0	0	1	0	0	957	603	21	4	3155	4	ARMC4	10	28284017	Nonsense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	2400695	28284017	107250730	197	573											
HNRNPF	3185	broad.mit.edu	37	chr10	43882406	43882406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacagggttgagaggagaGaagaagttgtaaatgtcgtt	13	10	14	4	1	1	3	1	1	0	3	2	6	1	4	0	2	0	4	0	2	4	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:43882406G>A	ENST00000443950.2	-	3	1413	c.927C>T	c.(925-927)ttC>ttT	p.F309F	HNRNPF_ENST00000544000.1_Silent_p.F309F|HNRNPF_ENST00000337970.3_Silent_p.F309F|HNRNPF_ENST00000357065.4_Silent_p.F309F|HNRNPF_ENST00000356053.3_Silent_p.F309F	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	309	RRM 3.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						TGAGAGGAGAGAAGAAGTTGT	0.522													55	69					0	0	0	0	A	43882406	G	A	43882406	2	1	3	1	0	0	0	0	0	0	0	1	7315	933	33	2		2	HNRNPF	10	43882406	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	15598389	43882406	91652341	198	574											
ALOX5	240	broad.mit.edu	37	chr10	45941034	45941034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccgattccgcaagaacCtcgaggccattgtcagcgtg	8	8	12	13	4	1	1	1	0	0	1	3	3	2	1	4	2	2	1	4	2	2	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:45941034C>A	ENST00000374391.2	+	14	1977	c.1924C>A	c.(1924-1926)Ctc>Atc	p.L642I	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.L585I	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	642	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CCGCAAGAACCTCGAGGCCAT	0.542													47	83					2.43468e-25	3.1132e-25	1	0	A	45941034	C	A	45941034	3	1	3	1	0	0	0	0	1	0	0	0	540	681	24	4	1978	4	ALOX5	10	45941034	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	2058628	45941034	89593713	199	575											
PCDH15	65217	broad.mit.edu	37	chr10	56106124	56106124	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcaaataggtatttacataCcggatcatctggattatact	13	14	7	7	1	2	0	1	0	1	0	2	2	2	2	1	3	4	2	1	3	7	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:56106124C>A	ENST00000373965.2	-	6	989		c.e6+1		PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000395442.1_Splice_Site|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TATTTACATACCGGATCATCT	0.308										HNSCC(58;0.16)			40	59					8.16277e-20	9.87126e-20	1	0	A	56106124	C	A	56106124	5	1	3	1	0	0	0	0	0	0	1	0	11582	521	18	4	7028	4	PCDH15	10	56106124	Splice_Site	SNP	C	TCGA-BA-4076-01A-01D-1434-08	10165090	56106124	79428623	200	576											
IPMK	253430	broad.mit.edu	37	chr10	59955934	59955934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggaacacatgagcaaaaTctatcattcgcacttctact	14	11	6	10	1	3	1	1	1	2	0	4	2	3	2	0	1	3	2	0	1	6	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:59955934T>C	ENST00000373935.3	-	6	1476	c.1154A>G	c.(1153-1155)gAt>gGt	p.D385G		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	385						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						ATGAGCAAAATCTATCATTCG	0.363													95	143					0	0	0	0	C	59955934	T	C	59955934	3	2	3	1	0	0	0	0	1	0	0	0	7845	1435	50	5	100	5	IPMK	10	59955934	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	3849810	59955934	75578813	201	577											
ADAMTS14	140766	broad.mit.edu	37	chr10	72496543	72496543	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggactgagtgtgcaccCggcaaggtacctgtggggtg	7	8	18	8	1	0	1	0	1	0	0	0	3	0	2	2	5	2	3	2	5	2	1	rs143495275	byFrequency	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:72496543C>A	ENST00000373208.1	+	10	1602	c.1602C>A	c.(1600-1602)ccC>ccA	p.P534P	ADAMTS14_ENST00000373207.1_Silent_p.P531P	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	531	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGTGTGCACCCGGCAAGGTAC	0.627													24	47					1.17739e-12	1.31823e-12	1	0	A	72496543	C	A	72496543	2	1	3	1	0	0	0	0	0	0	0	1	259	639	23	3		3	ADAMTS14	10	72496543	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	12540609	72496543	63038204	202	578											
LRIT1	26103	broad.mit.edu	37	chr10	85992071	85992071	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacacagacacacgccAcatacttggtcttgggcaac	11	7	8	15	1	1	1	0	0	1	1	1	1	1	1	2	2	3	2	2	2	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:85992071A>G	ENST00000372105.3	-	4	1505	c.1484T>C	c.(1483-1485)gTg>gCg	p.V495A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	495	Fibronectin type-III.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GACACACGCCACATACTTGGT	0.567													14	29					0	0	0	0	G	85992071	A	G	85992071	3	3	3	1	0	0	0	0	1	0	0	0	9011	159	6	5	391	5	LRIT1	10	85992071	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	13495528	85992071	49542676	203	579											
LRIT1	26103	broad.mit.edu	37	chr10	85992310	85992310	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccatcagagagctctccCagggcatccatctggaagtg	9	7	11	14	1	3	1	1	0	2	1	5	3	4	2	3	2	1	2	3	2	1	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:85992310C>A	ENST00000372105.3	-	4	1266	c.1245G>T	c.(1243-1245)ctG>ctT	p.L415L		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	415						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGAGCTCTCCCAGGGCATCCA	0.607													48	90					4.86159e-25	6.18268e-25	1	0	A	85992310	C	A	85992310	2	1	3	1	0	0	0	0	0	0	0	1	9011	581	21	4		4	LRIT1	10	85992310	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	239	85992310	49542437	204	580											
KIF20B	9585	broad.mit.edu	37	chr10	91479299	91479299	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatgtaaaaagagccaccAtttcatgggaaaatagtcta	18	10	7	6	0	2	1	1	0	1	1	2	2	2	2	2	1	1	1	2	1	9	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:91479299A>C	ENST00000416354.1	+	13	1630	c.1558A>C	c.(1558-1560)Att>Ctt	p.I520L	KIF20B_ENST00000394289.2_Missense_Mutation_p.I520L|KIF20B_ENST00000371728.3_Missense_Mutation_p.I520L|KIF20B_ENST00000260753.4_Missense_Mutation_p.I520L			Q96Q89	KI20B_HUMAN	kinesin family member 20B	520					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAGAGCCACCATTTCATGGGA	0.343													21	35					0	0	0	0	C	91479299	A	C	91479299	3	2	3	1	0	0	0	0	1	0	0	0	8338	217	8	5	1604	5	KIF20B	10	91479299	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	5486989	91479299	44055448	205	581											
ZNF518A	9849	broad.mit.edu	37	chr10	97918677	97918677	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagaaaaacaagtgtcAtcaataccacaagatgtgag	20	6	9	6	0	2	3	2	1	0	2	2	4	2	4	1	1	2	0	1	1	8	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:97918677A>T	ENST00000534948.1	+	0	3455							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AACAAGTGTCATCAATACCAC	0.393													33	45					0	0	0	0	T	97918677	A	T	97918677	1	4	3	0	1	0	0	0	0	0	0	0	18057	204	8	5		5	ZNF518A	10	97918677	RNA	SNP	A	TCGA-BA-4076-01A-01D-1434-08	6439378	97918677	37616070	206	582											
SFXN2	118980	broad.mit.edu	37	chr10	104486494	104486494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctaaacatcacggacccccGcactgtctttgtatctgagc	9	10	7	15	2	3	1	1	1	2	0	3	2	3	2	3	1	2	2	3	1	3	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:104486494G>T	ENST00000369893.4	+	2	268	c.101G>T	c.(100-102)cGc>cTc	p.R34L	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	34					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	p.R34H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		ACGGACCCCCGCACTGTCTTT	0.587													47	87					1.19451e-25	1.54856e-25	1	0	T	104486494	G	T	104486494	3	4	3	1	0	0	0	0	1	0	0	0	14282	1087	38	3	103	3	SFXN2	10	104486494	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	6567817	104486494	31048253	207	583											
ATRNL1	26033	broad.mit.edu	37	chr10	117075091	117075091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagcctggatgtggctggtGcaatgatcctagtaatacag	11	10	12	8	0	0	1	0	1	0	0	1	2	1	2	2	3	3	3	2	3	4	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:117075091G>T	ENST00000355044.3	+	18	3008	c.2882G>T	c.(2881-2883)tGc>tTc	p.C961F	ATRNL1_ENST00000423111.2_Missense_Mutation_p.C58F|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	961	PSI 5.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGTGGCTGGTGCAATGATCCT	0.443													30	70					1.26612e-14	1.44876e-14	1	0	T	117075091	G	T	117075091	3	4	3	1	0	0	0	0	1	0	0	0	1211	1319	46	4	2952	4	ATRNL1	10	117075091	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	12588597	117075091	18459656	208	584											
PDZD8	118987	broad.mit.edu	37	chr10	119044034	119044034	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcctaaagccacatctTcaagttttaaactaacatgc	14	11	5	11	0	2	0	1	0	1	0	3	0	3	0	2	1	4	2	2	1	6	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:119044034T>C	ENST00000334464.5	-	5	2449	c.2210A>G	c.(2209-2211)gAa>gGa	p.E737G	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	737					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AGCCACATCTTCAAGTTTTAA	0.448													55	54					0	0	0	0	C	119044034	T	C	119044034	3	2	3	1	0	0	0	0	1	0	0	0	11776	1783	62	5	1258	5	PDZD8	10	119044034	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	1968943	119044034	16490713	209	585											
GPR123	84435	broad.mit.edu	37	chr10	134885501	134885501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgagccctcatgggcgtGggtcttcagaagtggctatt	6	10	16	9	2	3	1	2	0	1	1	3	2	3	1	1	4	1	1	1	4	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:134885501G>T	ENST00000607359.1	+	2	260	c.260G>T	c.(259-261)tGg>tTg	p.W87L				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TCATGGGCGTGGGTCTTCAGA	0.652													3	5					0.004672	0.00477401	1	0	T	134885501	G	T	134885501	3	4	3	1	0	0	0	0	1	0	0	0	6686	1363	47	4		4	GPR123	10	134885501	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	15841467	134885501	649246	210	586											
OR51L1	119682	broad.mit.edu	37	chr11	5020434	5020434	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttagcagtgaatgacctgggGatgtccctgtctacacttcc	8	12	10	11	0	1	2	0	2	1	0	3	3	3	3	3	2	2	1	3	2	3	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:5020434G>C	ENST00000321543.1	+	1	222	c.222G>C	c.(220-222)ggG>ggC	p.G74G		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	74					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)		ATGACCTGGGGATGTCCCTGT	0.458													96	169					0	0	0	0	C	5020434	G	C	5020434	2	2	3	1	0	0	0	0	0	0	0	1	11173	1161	41	2		2	OR51L1	11	5020434	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08		5020434	129986082	211	587											
OR52N5	390075	broad.mit.edu	37	chr11	5799430	5799430	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggcaatgatagggttggtGagtgtggtagcataacgcaa	11	11	15	4	1	0	2	0	2	0	0	0	2	0	2	0	4	2	5	0	4	5	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:5799430G>C	ENST00000317093.2	-	1	467	c.435C>G	c.(433-435)ctC>ctG	p.L145L	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TAGGGTTGGTGAGTGTGGTAG	0.507													61	66					0	0	0	0	C	5799430	G	C	5799430	2	2	3	1	0	0	0	0	0	0	0	1	11201	1277	45	2		2	OR52N5	11	5799430	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	778996	5799430	129207086	212	588											
NLRP14	338323	broad.mit.edu	37	chr11	7079072	7079072	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaaagtgttatctagagaGactgtcgtgagtgtttctgt	9	15	11	6	1	2	3	0	1	2	2	4	4	3	3	1	0	0	2	1	0	3	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:7079072G>C	ENST00000299481.4	+	7	2802	c.2456G>C	c.(2455-2457)aGa>aCa	p.R819T		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	819					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATCTAGAGAGACTGTCGTGA	0.408													46	102					0	0	0	0	C	7079072	G	C	7079072	3	2	3	1	0	0	0	0	1	0	0	0	10546	942	33	2	2478	2	NLRP14	11	7079072	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	1279642	7079072	127927444	213	589											
RPS13	6207	broad.mit.edu	37	chr11	17095985	17095985	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtacacagacaaatttatgCgaccagggcagaggctgtag	14	7	12	8	1	0	2	0	0	0	2	0	3	0	2	1	2	2	4	1	2	4	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:17095985C>G	ENST00000525634.1	-	6	596	c.451G>C	c.(451-453)Gca>Cca	p.A151P	RPS13_ENST00000228140.2_Silent_p.S139S|RPS13_ENST00000526895.1_5'UTR			P62277	RS13_HUMAN	ribosomal protein S13	151					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CAAATTTATGCGACCAGGGCA	0.318													17	37					0	0	0	0	G	17095985	C	G	17095985	3	3	3	1	0	0	0	0	1	0	0	0	13708	768	27	3	8	3	RPS13	11	17095985	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	10016913	17095985	117910531	214	590											
SLC17A6	57084	broad.mit.edu	37	chr11	22363186	22363186	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgactgcacgtgcttcggcCtgccccgccgctacattatc	5	9	10	17	5	0	0	0	0	0	0	2	1	0	0	4	1	4	3	4	1	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:22363186C>A	ENST00000263160.3	+	2	636	c.199C>A	c.(199-201)Ctg>Atg	p.L67M		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	67					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GTGCTTCGGCCTGCCCCGCCG	0.627													19	21					2.89027e-11	3.14569e-11	1	0	A	22363186	C	A	22363186	3	1	3	1	0	0	0	0	1	0	0	0	14509	680	24	4	205	4	SLC17A6	11	22363186	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	5267201	22363186	112643330	215	591											
BDNF	627	broad.mit.edu	37	chr11	27679873	27679873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtccttattgttttcttcaTtgggccgaactttctggtcc	4	18	8	11	2	3	0	1	0	2	0	5	1	5	0	3	2	1	1	3	2	2	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:27679873T>C	ENST00000525528.1	-	1	1332	c.239A>G	c.(238-240)aAt>aGt	p.N80S	BDNF_ENST00000356660.4_Missense_Mutation_p.N80S|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.N80S|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.N80S|BDNF_ENST00000395986.2_Missense_Mutation_p.N95S|BDNF_ENST00000438929.1_Missense_Mutation_p.N162S|BDNF_ENST00000314915.6_Missense_Mutation_p.N88S|BDNF_ENST00000439476.2_Missense_Mutation_p.N80S|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.N80S|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000530861.1_Missense_Mutation_p.N80S|BDNF_ENST00000395980.2_Missense_Mutation_p.N80S|BDNF_ENST00000395978.3_Missense_Mutation_p.N80S|BDNF_ENST00000532997.1_Missense_Mutation_p.N80S|BDNF_ENST00000418212.1_Missense_Mutation_p.N80S|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.N80S|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000395981.3_Missense_Mutation_p.N80S|BDNF_ENST00000533131.1_Missense_Mutation_p.N80S	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	80						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						GTTTTCTTCATTGGGCCGAAC	0.493													116	149					0	0	0	0	C	27679873	T	C	27679873	3	2	3	1	0	0	0	0	1	0	0	0	1398	1493	52	5	508	5	BDNF	11	27679873	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	5316687	27679873	107326643	216	592											
HIPK3	10114	broad.mit.edu	37	chr11	33358705	33358705	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaagatttttttgcaaaGaaacagatatgtctcattct	14	14	5	8	0	2	3	1	0	2	3	3	3	2	3	1	0	2	1	1	0	4	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:33358705G>T	ENST00000303296.4	+	4	1611	c.1306G>T	c.(1306-1308)Gaa>Taa	p.E436*	HIPK3_ENST00000534262.1_3'UTR|HIPK3_ENST00000379016.3_Nonsense_Mutation_p.E436*|HIPK3_ENST00000456517.1_Nonsense_Mutation_p.E436*|HIPK3_ENST00000525975.1_Nonsense_Mutation_p.E436*	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	436	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTTTTGCAAAGAAACAGATAT	0.313													24	30					4.26978e-12	4.70178e-12	1	0	T	33358705	G	T	33358705	4	4	3	1	0	0	0	0	0	1	0	0	7168	943	33	2	1316	2	HIPK3	11	33358705	Nonsense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	5678832	33358705	101647811	217	593											
OR4C13	283092	broad.mit.edu	37	chr11	49974253	49974253	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagactatcttattcaaTggatgtatgactcaagtctt	14	14	6	7	0	4	2	2	1	2	1	4	3	4	3	0	1	1	1	0	1	7	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:49974253T>C	ENST00000555099.1	+	1	311	c.279T>C	c.(277-279)aaT>aaC	p.N93N		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCTTATTCAATGGATGTATGA	0.418													121	160					0	0	0	0	C	49974253	T	C	49974253	2	2	3	1	0	0	0	0	0	0	0	1	11118	1461	51	5		5	OR4C13	11	49974253	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08	16615548	49974253	85032263	218	594											
OR4A16	81327	broad.mit.edu	37	chr11	55110931	55110931	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgatagacttactctgTgataaaatcgctatttcctt	11	17	6	7	1	1	4	0	3	1	1	3	4	2	4	1	0	1	1	1	0	5	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55110931T>A	ENST00000314721.2	+	1	305	c.255T>A	c.(253-255)tgT>tgA	p.C85*		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C85C(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ACTTACTCTGTGATAAAATCG	0.448													138	213					0	0	0	0	A	55110931	T	A	55110931	4	1	3	1	0	0	0	0	0	1	0	0	11112	1702	59	5	257	5	OR4A16	11	55110931	Nonsense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	5136678	55110931	79895585	219	595											
OR4A15	81328	broad.mit.edu	37	chr11	55135423	55135423	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgtaggctccgacacCtgagtccaacaccttcagaa	10	11	8	12	1	1	2	1	1	0	1	3	3	3	2	4	1	1	3	4	1	3	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55135423C>G	ENST00000314706.3	+	1	64	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GCTCCGACACCTGAGTCCAAC	0.413													22	53					0	0	0	0	G	55135423	C	G	55135423	3	3	3	1	0	0	0	0	1	0	0	0	11111	680	24	4	66	4	OR4A15	11	55135423	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	24492	55135423	79871093	220	596											
OR5D18	219438	broad.mit.edu	37	chr11	55587238	55587238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtgctagggaatattGggttgattgtgatcatcaaa	11	14	11	5	0	3	2	3	2	0	0	3	3	3	3	0	2	1	2	0	2	4	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55587238G>T	ENST00000333976.4	+	1	153	c.133G>T	c.(133-135)Ggg>Tgg	p.G45W		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G45W(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AGGGAATATTGGGTTGATTGT	0.458													123	144					1.05862e-61	1.60334e-61	1	0	T	55587238	G	T	55587238	3	4	3	1	0	0	0	0	1	0	0	0	11228	1348	47	4	135	4	OR5D18	11	55587238	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	451815	55587238	79419278	221	597											
OR5D16	390144	broad.mit.edu	37	chr11	55606809	55606809	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactctcttaccctgactcTtatctcagccagttgcttct	6	16	4	15	0	5	1	2	1	4	0	7	1	5	1	2	0	3	2	2	0	2	4	rs147515254	by1000genomes	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55606809T>A	ENST00000378396.1	+	1	582	c.582T>A	c.(580-582)tcT>tcA	p.S194S		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACCCTGACTCTTATCTCAGCC	0.393													68	117					0	0	0	0	A	55606809	T	A	55606809	2	1	3	1	0	0	0	0	0	0	0	1	11227	1596	56	5		5	OR5D16	11	55606809	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08	19571	55606809	79399707	222	598											
OR5I1	10798	broad.mit.edu	37	chr11	55703661	55703661	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtctgagaaatagcaaagGtctacaaatgataggttgct	15	11	10	5	0	2	2	0	2	2	1	2	3	2	2	0	2	3	3	0	2	6	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55703661G>T	ENST00000301532.3	-	1	215	c.216C>A	c.(214-216)gaC>gaA	p.D72E		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AATAGCAAAGGTCTACAAATG	0.383													29	39					3.73988e-18	4.4423e-18	1	0	T	55703661	G	T	55703661	3	4	3	1	0	0	0	0	1	0	0	0	11235	1252	44	4	731	4	OR5I1	11	55703661	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	96852	55703661	79302855	223	599											
OR5F1	338674	broad.mit.edu	37	chr11	55761243	55761243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgaggctgtagatcagagGattcaacatgggaatcacca	13	8	11	9	0	3	3	3	1	0	2	3	5	3	5	2	3	1	2	2	3	3	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55761243G>A	ENST00000278409.1	-	1	858	c.859C>T	c.(859-861)Cct>Tct	p.P287S		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TAGATCAGAGGATTCAACATG	0.438													25	52					0	0	0	0	A	55761243	G	A	55761243	3	1	3	1	0	0	0	0	1	0	0	0	11229	1174	41	2	88	2	OR5F1	11	55761243	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	57582	55761243	79245273	224	600											
OR8K5	219453	broad.mit.edu	37	chr11	55927515	55927515	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcagcacatgcataataGgaaatagtatttcgatccac	14	11	8	8	1	0	0	0	0	0	0	2	2	1	1	1	1	3	4	1	1	5	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55927515G>C	ENST00000313447.1	-	1	278	c.279C>G	c.(277-279)tcC>tcG	p.S93S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATGCATAATAGGAAATAGTAT	0.398													67	77					0	0	0	0	C	55927515	G	C	55927515	2	2	3	1	0	0	0	0	0	0	0	1	11316	987	35	4		4	OR8K5	11	55927515	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	166272	55927515	79079001	225	601											
OR5M9	390162	broad.mit.edu	37	chr11	56230837	56230837	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcctgacgacaggtcagcCccaggagagtaaattctgtc	10	8	11	12	1	2	2	1	1	1	1	4	4	3	2	3	2	1	2	3	2	2	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:56230837C>A	ENST00000279791.1	-	1	40	c.41G>T	c.(40-42)gGg>gTg	p.G14V		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACAGGTCAGCCCCAGGAGAGT	0.413													16	26					5.01169e-05	5.21216e-05	1	0	A	56230837	C	A	56230837	3	1	3	1	0	0	0	0	1	0	0	0	11248	623	22	4	893	4	OR5M9	11	56230837	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	303322	56230837	78775679	226	602											
OR5AP2	338675	broad.mit.edu	37	chr11	56409494	56409494	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaattctcccagacacgAgaactgggtagagcaggggg	13	5	14	9	1	1	3	0	0	1	3	2	4	1	3	1	3	3	3	1	3	3	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:56409494A>T	ENST00000544374.1	-	1	453	c.425T>A	c.(424-426)cTc>cAc	p.L142H	OR5AP2_ENST00000302981.1_Missense_Mutation_p.L141H			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CCCAGACACGAGAACTGGGTA	0.483													25	54					0	0	0	0	T	56409494	A	T	56409494	3	4	3	1	0	0	0	0	1	0	0	0	11215	304	11	5	532	5	OR5AP2	11	56409494	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	178657	56409494	78597022	227	603											
P2RX3	5024	broad.mit.edu	37	chr11	57118349	57118349	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgtttctgagaaaagcagCgtgtccccaggctacaactt	11	9	10	11	2	1	1	0	1	1	1	2	2	2	1	2	1	5	3	2	1	4	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:57118349C>T	ENST00000263314.2	+	8	853	c.819C>T	c.(817-819)agC>agT	p.S273S		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	273					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						AGAAAAGCAGCGTGTCCCCAG	0.542													49	68					0	0	0	0	T	57118349	C	T	57118349	2	4	3	1	0	0	0	0	0	0	0	1	11412	767	27	1		1	P2RX3	11	57118349	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	708855	57118349	77888167	228	604											
SERPING1	710	broad.mit.edu	37	chr11	57379319	57379319	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggccatcatggagaaactgGagatgtccaagttccagccc	12	7	11	11	0	1	2	1	0	0	2	3	4	3	2	4	3	2	1	4	3	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:57379319G>T	ENST00000403558.1	+	6	1654	c.1288G>T	c.(1288-1290)Gag>Tag	p.E430*	SERPING1_ENST00000378324.2_Nonsense_Mutation_p.E335*|SERPING1_ENST00000378323.4_Nonsense_Mutation_p.E392*|SERPING1_ENST00000340687.6_Nonsense_Mutation_p.E350*|SERPING1_ENST00000278407.4_Nonsense_Mutation_p.E387*	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	387					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GGAGAAACTGGAGATGTCCAA	0.502													58	104					1.72845e-40	2.4662e-40	1	0	T	57379319	G	T	57379319	4	4	3	1	0	0	0	0	0	1	0	0	14203	1175	41	2	1181	2	SERPING1	11	57379319	Nonsense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	260970	57379319	77627197	229	605											
OR1S2	219958	broad.mit.edu	37	chr11	57970930	57970930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactttccctgtgtggatgAtactcccaggacagctctga	8	11	9	13	0	1	2	0	2	1	0	3	4	3	4	3	2	2	1	3	2	1	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:57970930A>G	ENST00000302592.6	-	1	723	c.724T>C	c.(724-726)Tca>Cca	p.S242P		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGTGTGGATGATACTCCCAGG	0.453													31	67					0	0	0	0	G	57970930	A	G	57970930	3	3	3	1	0	0	0	0	1	0	0	0	11044	333	12	5	256	5	OR1S2	11	57970930	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	591611	57970930	77035586	230	606											
OR4D6	219983	broad.mit.edu	37	chr11	59224737	59224737	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgactgcatggcacagatcTttttcttccactttgctggt	7	16	8	10	0	2	2	0	1	2	1	3	2	3	2	1	2	2	3	1	2	0	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:59224737T>A	ENST00000300127.2	+	1	327	c.304T>A	c.(304-306)Ttt>Att	p.F102I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	102			F -> S (in dbSNP:rs17153770).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GGCACAGATCTTTTTCTTCCA	0.463													116	155					0	0	0	0	A	59224737	T	A	59224737	3	1	3	1	0	0	0	0	1	0	0	0	11129	1609	56	5	306	5	OR4D6	11	59224737	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	1253807	59224737	75781779	231	607											
VPS37C	55048	broad.mit.edu	37	chr11	60906239	60906239	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggccagctggtcaatCgcctccgagtcattctgcaa	8	9	10	14	2	3	0	2	0	1	0	6	1	5	0	4	2	2	2	4	2	2	1	rs144092595	by1000genomes	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:60906239C>A	ENST00000301765.5	-	2	295	c.63G>T	c.(61-63)gcG>gcT	p.A21A		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	21					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GCTGGTCAATCGCCTCCGAGT	0.552													54	104					2.44813e-32	3.29232e-32	1	0	A	60906239	C	A	60906239	2	1	3	1	0	0	0	0	0	0	0	1	17303	871	31	3		3	VPS37C	11	60906239	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	1681502	60906239	74100277	232	608											
AHNAK	79026	broad.mit.edu	37	chr11	62299641	62299641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgggcattttcatcttggGcatcttcaagtgccagtctg	6	16	10	9	0	5	0	2	0	3	0	5	0	5	0	1	2	1	2	1	2	1	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:62299641G>C	ENST00000378024.4	-	5	2522	c.2248C>G	c.(2248-2250)Ccc>Gcc	p.P750A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	750					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCATCTTGGGCATCTTCAAG	0.517													152	263					0	0	0	0	C	62299641	G	C	62299641	3	2	3	1	0	0	0	0	1	0	0	0	414	1203	42	4	15544	4	AHNAK	11	62299641	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	1393402	62299641	72706875	233	609											
GANAB	23193	broad.mit.edu	37	chr11	62398539	62398539	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccggaaaacatcagagatGgagggccccagcagcaggaa	14	3	14	10	1	1	1	1	0	0	1	1	5	1	4	3	4	4	2	3	4	3	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:62398539G>A	ENST00000346178.4	-	11	1194	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	GANAB_ENST00000356638.3_Silent_p.S371S|GANAB_ENST00000540933.1_Silent_p.S274S|GANAB_ENST00000534779.1_Silent_p.S279S	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	371					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CATCAGAGATGGAGGGCCCCA	0.512													173	225					0	0	0	0	A	62398539	G	A	62398539	2	1	3	1	0	0	0	0	0	0	0	1	6282	1335	47	4		4	GANAB	11	62398539	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	98898	62398539	72607977	234	610											
STIP1	10963	broad.mit.edu	37	chr11	63967640	63967640	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctttgtttttcttccccaGgggactatccccaggccatg	5	14	9	13	0	2	0	0	0	2	0	4	1	4	1	5	3	0	1	5	3	1	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:63967640G>T	ENST00000358794.5	+	10	1814		c.e10-1		STIP1_ENST00000538945.1_Splice_Site|STIP1_ENST00000305218.4_Splice_Site			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1						axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TTCTTCCCCAGGGGACTATCC	0.498													150	203					2.45841e-106	3.82238e-106	1	0	T	63967640	G	T	63967640	5	4	3	1	0	0	0	0	0	0	1	0	15375	1014	35	4	1158	4	STIP1	11	63967640	Splice_Site	SNP	G	TCGA-BA-4076-01A-01D-1434-08	1569101	63967640	71038876	235	611											
KAT5	10524	broad.mit.edu	37	chr11	65480261	65480261	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccgagatcctgagcgtgaAggacatcagtggccggaagc	10	5	16	10	3	1	3	1	2	0	1	2	6	2	5	3	4	2	0	3	4	2	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:65480261A>G	ENST00000341318.4	+	2	437	c.203A>G	c.(202-204)aAg>aGg	p.K68R	KAT5_ENST00000530446.1_Missense_Mutation_p.K68R|KAT5_ENST00000352980.4_Missense_Mutation_p.K35R|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000377046.3_Missense_Mutation_p.K35R	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	35					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CTGAGCGTGAAGGACATCAGT	0.562													39	78					0	0	0	0	G	65480261	A	G	65480261	3	3	3	1	0	0	0	0	1	0	0	0	8036	72	3	5	209	5	KAT5	11	65480261	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	1512621	65480261	69526255	236	612											
ADRBK1	156	broad.mit.edu	37	chr11	67049153	67049153	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgtctgcatgtcatacgcGttccacacgccagacaagct	10	10	8	13	3	2	1	1	0	1	1	3	1	3	1	2	0	3	3	2	0	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:67049153G>T	ENST00000308595.5	+	10	1070	c.780G>T	c.(778-780)gcG>gcT	p.A260A	ADRBK1_ENST00000526285.1_Silent_p.A260A	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	260	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TGTCATACGCGTTCCACACGC	0.672													47	64					4.17328e-34	5.7444e-34	1	0	T	67049153	G	T	67049153	2	4	3	1	0	0	0	0	0	0	0	1	343	1132	40	3		3	ADRBK1	11	67049153	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	1568892	67049153	67957363	237	613											
CTTN	2017	broad.mit.edu	37	chr11	70281676	70281676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggtcggccctgtggcGggtaggcaggaaggactgtc	6	7	17	11	2	1	0	1	0	0	0	3	2	1	2	2	7	0	2	2	7	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:70281676G>A	ENST00000376561.3	+	18	1775	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q	CTTN_ENST00000538675.1_Missense_Mutation_p.R256Q|CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000301843.8_3'UTR	NM_001184740.1	NP_001171669.1	Q14247	SRC8_HUMAN	cortactin	0	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GCCCTGTGGCGGGTAGGCAGG	0.612													8	61					0	0	0	0	A	70281676	G	A	70281676	3	1	3	1	0	0	0	0	1	0	0	0	4076	1116	39	1	1824	1	CTTN	11	70281676	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	3232523	70281676	64724840	238	614											
SHANK2	22941	broad.mit.edu	37	chr11	70333070	70333070	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccccaggcccacatcctCatcccccaggtctgtggaga	7	7	10	17	0	2	1	1	0	1	1	4	2	4	1	6	4	0	0	6	4	0	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:70333070C>A	ENST00000338508.4	-	32	3330	c.3331G>T	c.(3331-3333)Gag>Tag	p.E1111*	SHANK2_ENST00000423696.2_Nonsense_Mutation_p.E731*|SHANK2_ENST00000409161.1_Nonsense_Mutation_p.E514*|SHANK2_ENST00000449833.2_Nonsense_Mutation_p.E515*			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	731					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCACATCCTCATCCCCCAGG	0.692													39	654					4.0492e-12	4.47996e-12	1	0	A	70333070	C	A	70333070	4	1	3	1	0	0	0	0	0	1	0	0	14353	835	29	2	2229	2	SHANK2	11	70333070	Nonsense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	51394	70333070	64673446	239	615											
SHANK2	22941	broad.mit.edu	37	chr11	70333674	70333674	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttggagttggggacttgggGcagttgtaagtggttgggga	6	12	20	3	0	0	0	0	0	0	0	0	3	0	3	0	8	0	5	0	8	1	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:70333674G>A	ENST00000338508.4	-	32	2726	c.2727C>T	c.(2725-2727)tgC>tgT	p.C909C	SHANK2_ENST00000423696.2_Silent_p.C529C|SHANK2_ENST00000409161.1_Silent_p.C312C|SHANK2_ENST00000449833.2_Silent_p.C313C			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	529					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGGACTTGGGGCAGTTGTAAG	0.622													29	279					0	0	0	0	A	70333674	G	A	70333674	2	1	3	1	0	0	0	0	0	0	0	1	14353	1195	42	4		4	SHANK2	11	70333674	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	604	70333674	64672842	240	616											
ME3	10873	broad.mit.edu	37	chr11	86161369	86161369	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccttggaaaacaaacaCgtgattggaaagcttgttct	13	11	9	8	1	1	1	0	1	1	0	1	3	1	3	1	2	4	3	1	2	4	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:86161369C>A	ENST00000543262.1	-	9	1317	c.991G>T	c.(991-993)Gtg>Ttg	p.V331L	ME3_ENST00000393324.3_Missense_Mutation_p.V331L|ME3_ENST00000359636.2_Missense_Mutation_p.V331L|RP11-317J19.1_ENST00000524610.1_RNA	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	331					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AAAACAAACACGTGATTGGAA	0.502													21	13					1.96292e-10	2.12159e-10	1	0	A	86161369	C	A	86161369	3	1	3	1	0	0	0	0	1	0	0	0	9488	536	19	3	851	3	ME3	11	86161369	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	15827695	86161369	48845147	241	617											
NAALAD2	10003	broad.mit.edu	37	chr11	89892474	89892474	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgtgagttatagtatcGgacctggctttacagggagt	10	14	12	5	1	0	1	0	1	0	0	1	3	0	3	1	3	1	3	1	3	5	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:89892474G>T	ENST00000534061.1	+	8	1188	c.958G>T	c.(958-960)Gga>Tga	p.G320*	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Intron|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	320	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTATAGTATCGGACCTGGCTT	0.358													51	24					7.77372e-23	9.70161e-23	1	0	T	89892474	G	T	89892474	4	4	3	1	0	0	0	0	0	1	0	0	10198	1117	39	3	988	3	NAALAD2	11	89892474	Nonsense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	3731105	89892474	45114042	242	618											
HEPHL1	341208	broad.mit.edu	37	chr11	93844770	93844770	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagccacggtgccatctaaCggtaatgataccctctcccc	9	8	7	17	2	2	1	0	1	2	0	3	1	2	1	6	2	4	1	6	2	3	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:93844770C>A	ENST00000315765.9	+	19	3284	c.3277_splice	c.e19+1	p.N1092_splice		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1092	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGCCATCTAACGGTAATGATA	0.448													10	5					3.86212e-05	4.02555e-05	1	0	A	93844770	C	A	93844770	5	1	3	1	0	0	0	0	0	0	1	0	7105	550	19	3	3350	3	HEPHL1	11	93844770	Splice_Site	SNP	C	TCGA-BA-4076-01A-01D-1434-08	3952296	93844770	41161746	243	619											
CWF19L2	143884	broad.mit.edu	37	chr11	107299911	107299911	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgccttgggttagattcTcttctacacgtttctaaaga	8	18	7	8	1	3	2	0	0	3	2	4	2	3	2	1	1	2	2	1	1	4	9			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:107299911T>A	ENST00000282251.5	-	8	1074	c.1047A>T	c.(1045-1047)agA>agT	p.R349S	CWF19L2_ENST00000433523.1_Missense_Mutation_p.R349S	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	349							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GGTTAGATTCTCTTCTACACG	0.348													55	27					0	0	0	0	A	107299911	T	A	107299911	3	1	3	1	0	0	0	0	1	0	0	0	4104	1548	54	5	1681	5	CWF19L2	11	107299911	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	13455141	107299911	27706605	244	620											
GRIK4	2900	broad.mit.edu	37	chr11	120690619	120690620	+	Frame_Shift_Ins	INS	-	-	A																															ccgcctgcctcatctgtgccINSaaagcagaatgtaagtttcc																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:120690619_120690620insA	ENST00000527524.2	+	6	788_789	c.501_502insA	c.(499-504)gcaagcfs	p.S168fs	GRIK4_ENST00000438375.2_Frame_Shift_Ins_p.S168fs			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	168					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TCATCTGTGCCAAAGCAGAATG	0.569													111	70	---	---	---	---					A	120690620	-	A	120690619	7	5	3	1	0	1	1	0	0	0	0	0	6826	581	21	0	515	0	GRIK4	11	120690619	Frame_Shift_Ins	INS	-	TCGA-BA-4076-01A-01D-1434-08	13390708	120690619	14315897	245	621											
BARX2	8538	broad.mit.edu	37	chr11	129306871	129306871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagccccgccggagtcgcaCcatcttcaccgagctgcagc	8	5	11	17	4	2	0	1	0	1	0	3	3	2	1	5	1	4	3	5	1	1	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:129306871C>T	ENST00000281437.4	+	2	509	c.413C>T	c.(412-414)aCc>aTc	p.T138I	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	138										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CGGAGTCGCACCATCTTCACC	0.627													10	6					0	0	0	0	T	129306871	C	T	129306871	3	4	3	1	0	0	0	0	1	0	0	0	1320	507	18	4	419	4	BARX2	11	129306871	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	8616252	129306871	5699645	246	622											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343610	130343610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggccggggatttcagaggcGctcactcaagtgtgtgggcc	6	8	16	11	3	3	1	3	0	0	1	3	2	3	2	2	5	0	1	2	5	1	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:130343610G>T	ENST00000299164.2	+	8	2747	c.2747G>T	c.(2746-2748)cGc>cTc	p.R916L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	916	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TTTCAGAGGCGCTCACTCAAG	0.697													38	12					2.45108e-15	2.82538e-15	1	0	T	130343610	G	T	130343610	3	4	3	1	0	0	0	0	1	0	0	0	260	1087	38	3	2777	3	ADAMTS15	11	130343610	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	1036739	130343610	4662906	247	623											
OPCML	4978	broad.mit.edu	37	chr11	132527042	132527042	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtctgcacagagcaggTgtacggaccttcgtcataca	9	10	11	11	2	3	1	1	0	2	1	4	2	3	2	1	2	4	3	1	2	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:132527042T>A	ENST00000331898.7	-	2	918	c.340A>T	c.(340-342)Acc>Tcc	p.T114S	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.T114S|OPCML_ENST00000374778.4_Missense_Mutation_p.T73S|OPCML_ENST00000524381.1_Missense_Mutation_p.T107S	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	114	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ACAGAGCAGGTGTACGGACCT	0.507													65	30					0	0	0	0	A	132527042	T	A	132527042	3	1	3	1	0	0	0	0	1	0	0	0	10945	1696	59	5	721	5	OPCML	11	132527042	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	2183432	132527042	2479474	248	624											
TPI1	7167	broad.mit.edu	37	chr12	6976728	6976728	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcgcctcggctccagcGccatggcgccctccaggaag	6	6	12	17	4	1	0	1	0	0	0	4	1	3	1	5	3	2	1	5	3	1	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:6976728G>C	ENST00000229270.4	+	1	446	c.109G>C	c.(109-111)Gcc>Ccc	p.A37P	TPI1_ENST00000396705.5_5'UTR	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	0					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CGGCTCCAGCGCCATGGCGCC	0.642													10	24					0	0	0	0	C	6976728	G	C	6976728	3	2	3	1	0	0	0	0	1	0	0	0	16498	1087	38	3	111	3	TPI1	12	6976728	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08		6976728	126875167	249	625											
CD163	9332	broad.mit.edu	37	chr12	7636217	7636217	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccaggaacctccatgcCagatctccacacgtccagaa	11	6	6	18	1	1	2	0	0	1	2	5	3	4	3	7	1	2	0	7	1	2	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:7636217C>G	ENST00000359156.4	-	12	3036	c.2834G>C	c.(2833-2835)tGg>tCg	p.W945S	CD163_ENST00000396620.3_Missense_Mutation_p.W978S|CD163_ENST00000432237.2_Missense_Mutation_p.W945S|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.W933S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	945	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.W945*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACCTCCATGCCAGATCTCCAC	0.478													35	41					0	0	0	0	G	7636217	C	G	7636217	3	3	3	1	0	0	0	0	1	0	0	0	2996	595	21	4	656	4	CD163	12	7636217	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	659489	7636217	126215678	250	626											
TAS2R7	50837	broad.mit.edu	37	chr12	10954553	10954553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatatgtctccgcagggagAggatcaagaggaaaaaggac	15	6	14	6	1	2	3	1	1	1	2	3	7	2	6	1	4	0	1	1	4	4	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:10954553A>G	ENST00000240687.2	-	1	673	c.617T>C	c.(616-618)cTc>cCc	p.L206P		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	206					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						CCGCAGGGAGAGGATCAAGAG	0.498													24	32					0	0	0	0	G	10954553	A	G	10954553	3	3	3	1	0	0	0	0	1	0	0	0	15677	304	11	5	343	5	TAS2R7	12	10954553	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	3318336	10954553	122897342	251	627											
TAS2R19	259294	broad.mit.edu	37	chr12	11174609	11174609	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatattaggctcagagtaaAgggtatgaggtttgctagag	13	11	13	4	0	1	3	1	1	0	2	1	3	1	3	0	3	1	5	0	3	6	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:11174609A>C	ENST00000390673.2	-	1	610	c.562T>G	c.(562-564)Ttt>Gtt	p.F188V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	188					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTCAGAGTAAAGGGTATGAGG	0.393													110	153					0	0	0	0	C	11174609	A	C	11174609	3	2	3	1	0	0	0	0	1	0	0	0	15661	72	3	5	340	5	TAS2R19	12	11174609	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	220056	11174609	122677286	252	628											
PRB2	653247	broad.mit.edu	37	chr12	11546131	11546131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaggagatcgagaacttcggGacttgctgcctccttgtggg	7	10	15	9	2	0	2	0	0	0	2	3	6	1	3	2	3	3	1	2	3	1	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:11546131G>A	ENST00000389362.4	-	3	916	c.881C>T	c.(880-882)tCc>tTc	p.S294F	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			AGAACTTCGGGACTTGCTGCC	0.602													20	732					0	0	0	0	A	11546131	G	A	11546131	3	1	3	1	0	0	0	0	1	0	0	0	12523	1174	41	2	373	2	PRB2	12	11546131	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	371522	11546131	122305764	253	629											
PDE3A	5139	broad.mit.edu	37	chr12	20806882	20806882	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttgtattttatttctaggGtgatgaagaggccagccttg	9	15	11	6	0	1	3	0	2	1	1	1	3	1	3	2	2	1	1	2	2	4	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:20806882G>C	ENST00000359062.3	+	15	2967	c.2925_splice	c.e15-1	p.G976_splice	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	976	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TATTTCTAGGGTGATGAAGAG	0.428													45	89					0	0	0	0	C	20806882	G	C	20806882	5	2	3	1	0	0	0	0	0	0	1	0	11708	1275	44	4	2985	4	PDE3A	12	20806882	Splice_Site	SNP	G	TCGA-BA-4076-01A-01D-1434-08	9260751	20806882	113045013	254	630											
GALNT6	11226	broad.mit.edu	37	chr12	51753071	51753071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtccggaacacatggcctaCgacagagcaggggatgatct	11	6	14	10	2	1	2	0	1	1	1	2	5	2	4	2	5	3	1	2	5	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:51753071C>A	ENST00000543196.2	-	7	1418	c.1213G>T	c.(1213-1215)Gta>Tta	p.V405L	GALNT6_ENST00000356317.3_Missense_Mutation_p.V405L			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	405	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACATGGCCTACGACAGAGCAG	0.592													121	172					2.55716e-62	3.88555e-62	1	0	A	51753071	C	A	51753071	3	1	3	1	0	0	0	0	1	0	0	0	6266	536	19	3	675	3	GALNT6	12	51753071	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	30946189	51753071	82098824	255	631											
OR6C74	254783	broad.mit.edu	37	chr12	55641868	55641868	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcagcaaaagaaagagTgtcattaaataaagggatag	19	7	9	6	0	2	2	2	0	0	2	2	3	2	3	1	1	1	1	1	1	8	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:55641868T>A	ENST00000343870.4	+	1	887	c.797T>A	c.(796-798)gTg>gAg	p.V266E		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AAAGAAAGAGTGTCATTAAAT	0.383													69	79					0	0	0	0	A	55641868	T	A	55641868	3	1	3	1	0	0	0	0	1	0	0	0	11269	1696	59	5	799	5	OR6C74	12	55641868	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	3888797	55641868	78210027	256	632											
TMEM19	55266	broad.mit.edu	37	chr12	72090220	72090220	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatatgtttctttcagggctAgtcgttggatttatcctaac	8	18	8	7	1	2	0	1	0	1	0	4	1	3	1	1	2	1	3	1	2	5	9			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:72090220A>G	ENST00000266673.5	+	3	843	c.249A>G	c.(247-249)ctA>ctG	p.L83L	TMEM19_ENST00000549735.1_Silent_p.L83L|RP11-293I14.2_ENST00000548802.1_3'UTR	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	83						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TTTCAGGGCTAGTCGTTGGAT	0.303													45	99					0	0	0	0	G	72090220	A	G	72090220	2	3	3	1	0	0	0	0	0	0	0	1	16207	407	15	5		5	TMEM19	12	72090220	Silent	SNP	A	TCGA-BA-4076-01A-01D-1434-08	16448352	72090220	61761675	257	633											
TBC1D15	64786	broad.mit.edu	37	chr12	72278758	72278758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcatcaaggagatagcAaactactgattgaatctctt	14	13	6	8	0	3	3	2	2	1	1	4	4	3	3	0	1	3	1	0	1	5	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:72278758A>G	ENST00000550746.1	+	5	575	c.511A>G	c.(511-513)Aaa>Gaa	p.K171E	TBC1D15_ENST00000485960.2_Missense_Mutation_p.K171E|TBC1D15_ENST00000319106.8_Missense_Mutation_p.K179E|TBC1D15_ENST00000393309.3_Intron	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	171							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGAGATAGCAAACTACTGAT	0.358													51	96					0	0	0	0	G	72278758	A	G	72278758	3	3	3	1	0	0	0	0	1	0	0	0	15695	131	5	5	653	5	TBC1D15	12	72278758	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	188538	72278758	61573137	258	634											
NAV3	89795	broad.mit.edu	37	chr12	78400963	78400963	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggcagcacagcaagcAaagagtctgagaaattcagg	15	5	11	10	0	2	2	1	1	1	2	2	3	2	2	1	2	3	4	1	2	3	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:78400963A>G	ENST00000397909.2	+	8	1818	c.1645A>G	c.(1645-1647)Aaa>Gaa	p.K549E	NAV3_ENST00000228327.6_Missense_Mutation_p.K549E|NAV3_ENST00000266692.7_Missense_Mutation_p.K549E|NAV3_ENST00000536525.2_Missense_Mutation_p.K549E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	549						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CACAGCAAGCAAAGAGTCTGA	0.463										HNSCC(70;0.22)			43	61					0	0	0	0	G	78400963	A	G	78400963	3	3	3	1	0	0	0	0	1	0	0	0	10255	131	5	5	1675	5	NAV3	12	78400963	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	6122205	78400963	55450932	259	635											
SLC6A15	55117	broad.mit.edu	37	chr12	85255560	85255560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagatggcatctcgctcgGtatttttccgtgaatgaggc	7	13	13	8	3	1	3	0	2	1	1	4	4	2	3	1	4	0	3	1	4	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:85255560G>A	ENST00000266682.5	-	12	2585	c.2044C>T	c.(2044-2046)Ccg>Tcg	p.P682S	SLC6A15_ENST00000552192.1_Missense_Mutation_p.P575S|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	682					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATCTCGCTCGGTATTTTTCCG	0.438													90	148					0	0	0	0	A	85255560	G	A	85255560	3	1	3	1	0	0	0	0	1	0	0	0	14766	1261	44	4	152	4	SLC6A15	12	85255560	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	6854597	85255560	48596335	260	636											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450746	85450746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgaacctgatagcatGacctgctgtgtatcagagtc	10	10	10	11	0	1	4	1	3	0	1	2	4	1	4	3	0	3	4	3	0	3	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:85450746G>T	ENST00000393217.2	+	8	2236	c.2175G>T	c.(2173-2175)atG>atT	p.M725I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	725										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTGATAGCATGACCTGCTGTG	0.358													236	352					2.42195e-132	3.80359e-132	1	0	T	85450746	G	T	85450746	3	4	3	1	0	0	0	0	1	0	0	0	9093	1290	45	2	2201	2	LRRIQ1	12	85450746	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	195186	85450746	48401149	261	637											
MYO1H	283446	broad.mit.edu	37	chr12	109872840	109872840	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacatttcttttcacttctAgaaccaaaatattcattcgt	14	16	2	9	1	4	1	2	0	2	1	5	1	4	1	1	0	2	0	1	0	6	8			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:109872840A>G	ENST00000310903.5	+	21	2121		c.e21-1		MYO1H_ENST00000431443.2_Splice_Site			B4DNW6	B4DNW6_HUMAN	myosin IH							myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTTCACTTCTAGAACCAAAAT	0.373													16	27					0	0	0	0	G	109872840	A	G	109872840	5	3	3	1	0	0	0	0	0	0	1	0	10145	434	15	5	2092	5	MYO1H	12	109872840	Splice_Site	SNP	A	TCGA-BA-4076-01A-01D-1434-08	24422094	109872840	23979055	262	638											
TBX5	6910	broad.mit.edu	37	chr12	114836427	114836427	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgagcttgagtttctggaagGagacgagctgcctcatccaa	10	10	12	9	1	2	3	1	2	1	1	3	6	3	4	2	2	3	3	2	2	2	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:114836427G>C	ENST00000310346.4	-	5	1127	c.461C>G	c.(460-462)tCc>tGc	p.S154C	TBX5_ENST00000349716.5_Missense_Mutation_p.S104C|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Missense_Mutation_p.S154C|TBX5_ENST00000405440.2_Missense_Mutation_p.S154C	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	154					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTTCTGGAAGGAGACGAGCTG	0.622													9	19					0	0	0	0	C	114836427	G	C	114836427	3	2	3	1	0	0	0	0	1	0	0	0	15755	1174	41	2	1182	2	TBX5	12	114836427	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	4963587	114836427	19015468	263	639											
FBXO21	23014	broad.mit.edu	37	chr12	117603318	117603318	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagattcccaggtggaagTaaagcctggcttggaggagg	10	7	16	8	0	0	1	0	0	0	1	1	4	1	4	3	6	1	2	3	6	3	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:117603318T>C	ENST00000427718.2	-	9	1372	c.1298A>G	c.(1297-1299)tAc>tGc	p.Y433C	FBXO21_ENST00000330622.5_Missense_Mutation_p.Y433C	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	433					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CAGGTGGAAGTAAAGCCTGGC	0.512													94	132					0	0	0	0	C	117603318	T	C	117603318	3	2	3	1	0	0	0	0	1	0	0	0	5778	1638	57	5	604	5	FBXO21	12	117603318	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	2766891	117603318	16248577	264	640											
GOLGA3	2802	broad.mit.edu	37	chr12	133363016	133363016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggccgcgagggcctccTgcaggcggcggctgaggatg	4	6	18	13	4	0	1	0	1	0	0	1	3	1	2	4	6	1	2	4	6	0	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:133363016T>C	ENST00000204726.3	-	15	3590	c.3032A>G	c.(3031-3033)cAg>cGg	p.Q1011R	GOLGA3_ENST00000456883.2_Missense_Mutation_p.Q1011R|GOLGA3_ENST00000537452.1_Missense_Mutation_p.Q1011R|GOLGA3_ENST00000450791.2_Missense_Mutation_p.Q1011R|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Q1011R	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1011					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GAGGGCCTCCTGCAGGCGGCG	0.652													10	28					0	0	0	0	C	133363016	T	C	133363016	3	2	3	1	0	0	0	0	1	0	0	0	6605	1580	55	5	1642	5	GOLGA3	12	133363016	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	15759698	133363016	488879	265	641											
RNF6	6049	broad.mit.edu	37	chr13	26793609	26793609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaccaggggtgcctaaaaGattatggtctctcataagcc	11	11	9	10	0	2	1	1	0	1	1	3	1	2	1	3	3	3	0	3	3	5	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:26793609G>C	ENST00000381588.4	-	3	930	c.178C>G	c.(178-180)Ctt>Gtt	p.L60V	RNF6_ENST00000346166.3_Missense_Mutation_p.L60V|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000399762.2_De_novo_Start_InFrame|RNF6_ENST00000381570.3_Missense_Mutation_p.L60V	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	60					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GTGCCTAAAAGATTATGGTCT	0.383													58	73					0	0	0	0	C	26793609	G	C	26793609	3	2	3	1	0	0	0	0	1	0	0	0	13583	942	33	2	1891	2	RNF6	13	26793609	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08		26793609	88376269	266	642											
MTIF3	219402	broad.mit.edu	37	chr13	28011271	28011271	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatttcattttctgacacGtctacattttttcctttctt	7	21	2	11	1	4	1	1	1	3	0	5	1	5	1	2	0	1	0	2	0	1	9			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:28011271G>A	ENST00000381116.1	-	6	834	c.600C>T	c.(598-600)gaC>gaT	p.D200D	MTIF3_ENST00000381120.3_Silent_p.D200D|MTIF3_ENST00000431572.2_Silent_p.D200D|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000405591.2_Silent_p.D200D			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	200					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TTTCTGACACGTCTACATTTT	0.393													26	46					0	0	0	0	A	28011271	G	A	28011271	2	1	3	1	0	0	0	0	0	0	0	1	10005	1136	40	1		1	MTIF3	13	28011271	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	1217662	28011271	87158607	267	643											
ESD	2098	broad.mit.edu	37	chr13	47351749	47351749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatttcacaaggtgggtagCatcataagcctgtaaaaaga	15	9	11	6	0	2	1	2	0	0	1	2	2	2	2	1	3	2	3	1	3	6	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:47351749C>A	ENST00000378720.3	-	9	792	c.610G>T	c.(610-612)Gct>Tct	p.A204S	ESD_ENST00000378697.1_Missense_Mutation_p.A175S	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	204						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	AGGTGGGTAGCATCATAAGCC	0.343													71	120					4.83248e-46	7.08966e-46	1	0	A	47351749	C	A	47351749	3	1	3	1	0	0	0	0	1	0	0	0	5288	710	25	4	246	4	ESD	13	47351749	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	19340478	47351749	67818129	268	644											
ATP7B	540	broad.mit.edu	37	chr13	52520593	52520593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggatgatcacctctgtctGggagatgtgcttgttggggt	5	13	15	8	1	3	2	1	1	2	1	3	4	3	3	2	4	1	2	2	4	0	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:52520593G>T	ENST00000242839.4	-	13	3043	c.2887C>A	c.(2887-2889)Cag>Aag	p.Q963K	ATP7B_ENST00000448424.2_Missense_Mutation_p.Q885K|ATP7B_ENST00000400370.3_Missense_Mutation_p.Q533K|ATP7B_ENST00000344297.5_Missense_Mutation_p.Q756K|ATP7B_ENST00000418097.2_Intron|ATP7B_ENST00000417240.2_Missense_Mutation_p.Q235K|ATP7B_ENST00000400366.3_Missense_Mutation_p.Q852K|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	963					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACCTCTGTCTGGGAGATGTGC	0.537									Wilson disease				24	39					3.28513e-13	3.70467e-13	1	0	T	52520593	G	T	52520593	3	4	3	1	0	0	0	0	1	0	0	0	1195	1357	47	4	1546	4	ATP7B	13	52520593	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	5168844	52520593	62649285	269	645											
KLHL1	57626	broad.mit.edu	37	chr13	70413204	70413204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattaaagttcttctttctgGcaatagatggtatttcattg	10	18	7	6	0	4	1	1	0	3	1	4	1	4	1	0	2	0	3	0	2	5	8			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:70413204G>T	ENST00000377844.4	-	6	2077	c.1318C>A	c.(1318-1320)Cca>Aca	p.P440T	KLHL1_ENST00000545028.1_Missense_Mutation_p.P247T	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	440					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTCTTTCTGGCAATAGATGG	0.353													69	86					1.25706e-45	1.83845e-45	1	0	T	70413204	G	T	70413204	3	4	3	1	0	0	0	0	1	0	0	0	8417	1203	42	4	952	4	KLHL1	13	70413204	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	17892611	70413204	44756674	270	646											
SLITRK1	114798	broad.mit.edu	37	chr13	84454928	84454928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggggcttcgcagaccaCtcggccgatcagggcattct	6	8	15	12	3	2	1	1	0	1	1	4	2	2	1	2	5	0	3	2	5	0	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:84454928C>A	ENST00000377084.2	-	1	1600	c.715G>T	c.(715-717)Gtg>Ttg	p.V239L		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	239	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCGCAGACCACTCGGCCGATC	0.527													36	53					2.6416e-12	2.9435e-12	1	0	A	84454928	C	A	84454928	3	1	3	1	0	0	0	0	1	0	0	0	14830	565	20	4	1379	4	SLITRK1	13	84454928	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	14041724	84454928	30714950	271	647											
ERCC5	2073	broad.mit.edu	37	chr13	103519118	103519118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatctggctgtttggagcgcGgcatgtctatagaaactttt	8	15	11	7	2	2	1	0	0	2	1	2	2	2	2	0	3	2	3	0	3	4	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:103519118G>T	ENST00000355739.4	+	11	3879	c.2456G>T	c.(2455-2457)cGg>cTg	p.R819L	BIVM-ERCC5_ENST00000602836.1_Silent_p.A1244A|ERCC5_ENST00000375954.1_Missense_Mutation_p.R52L	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTTGGAGCGCGGCATGTCTAT	0.428			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				32	46					3.11337e-16	3.63356e-16	1	0	T	103519118	G	T	103519118	3	4	3	1	0	0	0	0	1	0	0	0	5254	1116	39	3	2498	3	ERCC5	13	103519118	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	19064190	103519118	11650760	272	648											
TTC5	91875	broad.mit.edu	37	chr14	20768960	20768960	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agttagcattagaacttgtgCcttgccctggacagaaccta	11	11	9	10	0	0	2	0	0	0	2	0	3	0	3	3	1	5	2	3	1	5	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:20768960C>A	ENST00000258821.3	-	3	258	c.202G>T	c.(202-204)Gca>Tca	p.A68S		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	68					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGAACTTGTGCCTTGCCCTGG	0.438													236	181					4.9081e-105	7.60594e-105	1	0	A	20768960	C	A	20768960	3	1	3	1	0	0	0	0	1	0	0	0	16807	739	26	4	1152	4	TTC5	14	20768960	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08		20768960	86580580	273	649											
NDRG2	57447	broad.mit.edu	37	chr14	21491405	21491405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acggtctctaataaccttggCcgcctcaggcgtctgtcctg	6	11	10	14	3	3	0	1	0	2	0	5	0	4	0	4	3	1	0	4	3	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:21491405C>T	ENST00000556147.1	-	2	1010	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	NDRG2_ENST00000397856.3_Missense_Mutation_p.A24T|NDRG2_ENST00000397858.1_Missense_Mutation_p.A24T|NDRG2_ENST00000555158.1_Missense_Mutation_p.A24T|NDRG2_ENST00000397851.2_Missense_Mutation_p.A24T|NDRG2_ENST00000360463.3_Missense_Mutation_p.A24T|NDRG2_ENST00000298684.5_Missense_Mutation_p.A24T|NDRG2_ENST00000397847.2_Missense_Mutation_p.A24T|NDRG2_ENST00000397844.2_Missense_Mutation_p.A24T|NDRG2_ENST00000298687.5_Missense_Mutation_p.A24T|NDRG2_ENST00000403829.3_Missense_Mutation_p.A34T|NDRG2_ENST00000397853.3_Missense_Mutation_p.A24T|NDRG2_ENST00000350792.3_Missense_Mutation_p.A24T|NDRG2_ENST00000397855.3_Missense_Mutation_p.A24T|NDRG2_ENST00000554143.1_Missense_Mutation_p.A24T|NDRG2_ENST00000553503.1_Missense_Mutation_p.A24T			Q9UN36	NDRG2_HUMAN	NDRG family member 2	24					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ATAACCTTGGCCGCCTCAGGC	0.537													3	43					0	0	0	0	T	21491405	C	T	21491405	3	4	3	1	0	0	0	0	1	0	0	0	10322	739	26	4	1105	4	NDRG2	14	21491405	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	722445	21491405	85858135	274	650											
MYH7	4625	broad.mit.edu	37	chr14	23886825	23886825	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgcttggtcttctccaGcgaggagcacttggcattaa	7	11	12	11	2	2	0	0	0	2	0	3	2	2	1	2	4	3	3	2	4	1	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:23886825G>A	ENST00000355349.3	-	31	4402	c.4240C>T	c.(4240-4242)Ctg>Ttg	p.L1414L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1414			L -> M (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		GTCTTCTCCAGCGAGGAGCAC	0.617													128	81					0	0	0	0	A	23886825	G	A	23886825	2	1	3	1	0	0	0	0	0	0	0	1	10109	962	34	4		4	MYH7	14	23886825	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	2395420	23886825	83462715	275	651											
SSTR1	6751	broad.mit.edu	37	chr14	38679295	38679295	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctcatgggcttcctgcTgcccgtgggggctatctgcc	3	13	12	13	1	2	0	1	0	2	0	4	0	3	0	3	3	3	3	3	3	1	3	rs149523434		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:38679295T>A	ENST00000267377.2	+	3	1318	c.701T>A	c.(700-702)cTg>cAg	p.L234Q		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	234					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GGCTTCCTGCTGCCCGTGGGG	0.622													32	66					0	0	0	0	A	38679295	T	A	38679295	3	1	3	1	0	0	0	0	1	0	0	0	15287	1580	55	5	703	5	SSTR1	14	38679295	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	14792470	38679295	68670245	276	652											
PTGER2	5732	broad.mit.edu	37	chr14	52781369	52781369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccgtcatgttctcggccGgggtgctggggaacctcata	5	10	14	12	3	3	0	2	0	1	0	5	1	4	1	3	5	2	3	3	5	2	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:52781369G>A	ENST00000245457.5	+	1	257	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	35						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	GTTCTCGGCCGGGGTGCTGGG	0.682													25	8					0	0	0	0	A	52781369	G	A	52781369	3	1	3	1	0	0	0	0	1	0	0	0	12823	1116	39	1	105	1	PTGER2	14	52781369	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	14102074	52781369	54568171	277	653											
GPHB5	122876	broad.mit.edu	37	chr14	63779732	63779732	+	RNA	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagaaggggtcgactccCggggcacagttgggcagctt	7	8	17	9	2	0	1	0	0	0	1	2	2	1	1	1	5	1	5	1	5	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:63779732C>A	ENST00000539258.1	-	0	358							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		GGTCGACTCCCGGGGCACAGT	0.582													5	40					0.014758	0.0149821	1	0	A	63779732	C	A	63779732	1	1	3	0	1	0	0	0	0	0	0	0	6658	667	23	3		3	GPHB5	14	63779732	RNA	SNP	C	TCGA-BA-4076-01A-01D-1434-08	10998363	63779732	43569808	278	654											
YLPM1	56252	broad.mit.edu	37	chr14	75230942	75230942	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactagctccaccaccaccGtccgccccccctggaaataa	10	6	5	20	2	0	0	0	0	0	0	2	1	2	1	8	1	2	1	8	1	4	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:75230942G>T	ENST00000325680.7	+	1	874	c.750G>T	c.(748-750)ccG>ccT	p.P250P	YLPM1_ENST00000552421.1_Silent_p.P250P|YLPM1_ENST00000238571.3_Silent_p.P250P	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CACCACCACCGTCCGCCCCCC	0.567													101	54					8.64784e-51	1.28482e-50	1	0	T	75230942	G	T	75230942	2	4	3	1	0	0	0	0	0	0	0	1	17582	1132	40	3		3	YLPM1	14	75230942	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	11451210	75230942	32118598	279	655											
RPS6KL1	83694	broad.mit.edu	37	chr14	75376287	75376287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggggtggaggtcccggCacagcaccccctgctcgtgc	4	6	14	17	3	0	0	0	0	0	0	3	1	2	1	4	5	3	3	4	5	0	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:75376287C>A	ENST00000555647.1	-	8	1516	c.1229G>T	c.(1228-1230)tGc>tTc	p.C410F	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.C410F|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.C379F|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.C410F			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	410	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GAGGTCCCGGCACAGCACCCC	0.682													4	172					0.184627	0.18542	1	0	A	75376287	C	A	75376287	3	1	3	1	0	0	0	0	1	0	0	0	13744	710	25	4	513	4	RPS6KL1	14	75376287	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	145345	75376287	31973253	280	656											
MLH3	27030	broad.mit.edu	37	chr14	75500173	75500173	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgggcagcgtgctgatccaCcagcacgagcaggttcccac	9	6	12	14	2	0	1	0	1	0	0	2	2	2	1	3	2	4	5	3	2	0	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:75500173C>G	ENST00000355774.2	-	7	3879	c.3664G>C	c.(3664-3666)Gtg>Ctg	p.V1222L	MLH3_ENST00000544985.1_3'UTR|MLH3_ENST00000380968.2_Missense_Mutation_p.V168L|MLH3_ENST00000238662.7_Intron|MLH3_ENST00000556740.1_Missense_Mutation_p.V1222L|MLH3_ENST00000556257.1_Intron	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1222					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGCTGATCCACCAGCACGAGC	0.478								Mismatch excision repair (MMR)					25	71					0	0	0	0	G	75500173	C	G	75500173	3	3	3	1	0	0	0	0	1	0	0	0	9687	507	18	4	725	4	MLH3	14	75500173	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	123886	75500173	31849367	281	657											
GALC	2581	broad.mit.edu	37	chr14	88434807	88434807	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcaactttgcatctttTgctgaatgggttccaggata	9	14	9	9	0	2	1	1	1	1	0	3	2	3	2	2	2	3	3	2	2	3	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:88434807T>C	ENST00000261304.2	-	8	886	c.780A>G	c.(778-780)gcA>gcG	p.A260A	GALC_ENST00000544807.2_Silent_p.A204A|GALC_ENST00000393569.2_Silent_p.A234A|GALC_ENST00000393568.4_Silent_p.A237A	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	260					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGCATCTTTTGCTGAATGGG	0.413													73	94					0	0	0	0	C	88434807	T	C	88434807	2	2	3	1	0	0	0	0	0	0	0	1	6250	1799	63	5		5	GALC	14	88434807	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08	12934634	88434807	18914733	282	658											
ZC3H14	79882	broad.mit.edu	37	chr14	89041117	89041117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatcatgatggagaagaGgaggaagaagatgatgatta	17	9	13	2	0	2	7	2	3	0	4	2	10	2	9	0	3	0	0	0	3	5	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:89041117G>T	ENST00000251038.5	+	7	1167	c.942G>T	c.(940-942)gaG>gaT	p.E314D	ZC3H14_ENST00000393514.5_Missense_Mutation_p.E314D|ZC3H14_ENST00000359301.3_Missense_Mutation_p.E280D|ZC3H14_ENST00000336693.4_Missense_Mutation_p.E280D|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Missense_Mutation_p.E159D|ZC3H14_ENST00000556945.1_Missense_Mutation_p.E314D|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E314D|ZC3H14_ENST00000555755.1_Missense_Mutation_p.E314D	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	314						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ATGGAGAAGAGGAGGAAGAAG	0.413													27	55					2.44723e-14	2.78663e-14	1	0	T	89041117	G	T	89041117	3	4	3	1	0	0	0	0	1	0	0	0	17661	991	35	4	968	4	ZC3H14	14	89041117	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	606310	89041117	18308423	283	659											
FAM181A	90050	broad.mit.edu	37	chr14	94394802	94394802	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtattcccggctcccgcgGggccttcctggcagagctgc	5	8	13	15	3	0	1	0	0	0	1	3	1	3	1	4	4	2	4	4	4	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:94394802G>T	ENST00000267594.5	+	3	664	c.357G>T	c.(355-357)cgG>cgT	p.R119R	FAM181A_ENST00000556222.1_Silent_p.R57R|FAM181A_ENST00000557719.1_Silent_p.R57R|FAM181A_ENST00000557000.2_Silent_p.R57R	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	119								p.R119L(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GGCTCCCGCGGGGCCTTCCTG	0.657													21	33					7.41877e-09	7.90885e-09	1	0	T	94394802	G	T	94394802	2	4	3	1	0	0	0	0	0	0	0	1	5550	1219	43	4		4	FAM181A	14	94394802	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	5353685	94394802	12954738	284	660											
OR4M2	390538	broad.mit.edu	37	chr15	22368976	22368976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgacccctccactatgctaCcatcatgaatcaacgtctct	10	10	4	17	2	3	1	2	1	1	0	5	2	4	1	5	0	3	1	5	0	4	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:22368976C>T	ENST00000332663.2	+	1	499	c.401C>T	c.(400-402)aCc>aTc	p.T134I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CACTATGCTACCATCATGAAT	0.507													96	889					0	0	0	0	T	22368976	C	T	22368976	3	4	3	1	0	0	0	0	1	0	0	0	11147	507	18	4	403	4	OR4M2	15	22368976	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08		22368976	80162416	285	661											
OR4N4	283694	broad.mit.edu	37	chr15	22382664	22382664	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctctatttatttctgggCaacttggccttcctggatgc	5	15	8	13	0	2	0	0	0	2	0	3	1	3	1	4	3	2	1	4	3	3	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:22382664C>A	ENST00000328795.4	+	1	283	c.192C>A	c.(190-192)ggC>ggA	p.G64G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TATTTCTGGGCAACTTGGCCT	0.463													79	995					1.7666e-45	2.5756e-45	1	0	A	22382664	C	A	22382664	2	1	3	1	0	0	0	0	0	0	0	1	11149	697	25	4		4	OR4N4	15	22382664	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	13688	22382664	80148728	286	662											
OR4N4	283694	broad.mit.edu	37	chr15	22382712	22382712	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccttcattgtggctcccagGatgttggtggacttcctctc	4	15	10	12	0	2	0	1	0	1	0	6	2	5	2	3	4	0	2	3	4	0	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:22382712G>A	ENST00000328795.4	+	1	331	c.240G>A	c.(238-240)agG>agA	p.R80R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGCTCCCAGGATGTTGGTGG	0.512													36	874					0	0	0	0	A	22382712	G	A	22382712	2	1	3	1	0	0	0	0	0	0	0	1	11149	1165	41	2		2	OR4N4	15	22382712	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	48	22382712	80148680	287	663											
OCA2	4948	broad.mit.edu	37	chr15	28230301	28230301	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacagagcatgatgatcaTggcccacacccgtccccggg	10	5	12	14	2	1	4	1	2	0	2	2	5	2	4	4	2	1	1	4	2	0	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:28230301T>A	ENST00000354638.3	-	13	1428	c.1273A>T	c.(1273-1275)Atg>Ttg	p.M425L	OCA2_ENST00000382996.2_Missense_Mutation_p.M425L|OCA2_ENST00000353809.5_Missense_Mutation_p.M401L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	425			Missing (in OCA2; mild).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ATGATGATCATGGCCCACACC	0.577									Oculocutaneous Albinism				37	2					0	0	0	0	A	28230301	T	A	28230301	3	1	3	1	0	0	0	0	1	0	0	0	10886	1464	51	5	1291	5	OCA2	15	28230301	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	5847589	28230301	74301091	288	664											
FBN1	2200	broad.mit.edu	37	chr15	48752447	48752447	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtcatgactcaccaacGggtaaaccggtataaatgtc	12	9	9	11	3	2	1	2	1	0	0	3	1	2	1	3	2	3	2	3	2	6	3	rs111756438		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:48752447G>A	ENST00000316623.5	-	43	5747	c.5292C>T	c.(5290-5292)ccC>ccT	p.P1764P		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1764					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACTCACCAACGGGTAAACCGG	0.393													58	13					0	0	0	0	A	48752447	G	A	48752447	2	1	3	1	0	0	0	0	0	0	0	1	5747	1103	39	1		1	FBN1	15	48752447	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	20522146	48752447	53778945	289	665											
SLC27A2	11001	broad.mit.edu	37	chr15	50515307	50515307	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcaatattggatttatgaAttatgcgagaaaagttggtg	14	13	12	2	1	0	2	0	1	0	1	0	4	0	3	0	3	1	2	0	3	7	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:50515307A>G	ENST00000267842.5	+	5	1350	c.1118A>G	c.(1117-1119)aAt>aGt	p.N373S	SLC27A2_ENST00000544960.1_Missense_Mutation_p.N138S|SLC27A2_ENST00000380902.4_Missense_Mutation_p.N320S	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	373					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GGATTTATGAATTATGCGAGA	0.393													52	75					0	0	0	0	G	50515307	A	G	50515307	3	3	3	1	0	0	0	0	1	0	0	0	14614	101	4	5	1136	5	SLC27A2	15	50515307	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	1762860	50515307	52016085	290	666											
UNC13C	440279	broad.mit.edu	37	chr15	54557618	54557618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatccatatgttacagttCaagttggaaagaacaaaaga	17	10	9	5	0	1	3	1	1	0	2	2	4	2	4	1	1	2	3	1	1	7	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:54557618C>A	ENST00000545554.1	+	9	3742	c.3742C>A	c.(3742-3744)Caa>Aaa	p.Q1248K	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q1246K|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q1248K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1248	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTTACAGTTCAAGTTGGAAA	0.323													10	11					0.000442599	0.000455245	1	0	A	54557618	C	A	54557618	3	1	3	1	0	0	0	0	1	0	0	0	17082	827	29	2	3772	2	UNC13C	15	54557618	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	4042311	54557618	47973774	291	667											
NOX5	79400	broad.mit.edu	37	chr15	69335139	69335139	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagaaagagtcaaaggtcGtccaaggtaggtggctactg	13	8	14	6	1	1	2	1	1	0	2	3	3	2	2	1	4	1	2	1	4	5	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:69335139G>T	ENST00000260364.5	+	11	1888	c.1587G>T	c.(1585-1587)tcG>tcT	p.S529S	RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000455873.3_Silent_p.S512S|NOX5_ENST00000448182.3_Silent_p.S501S|NOX5_ENST00000530406.2_Silent_p.S519S|NOX5_ENST00000388866.3_Silent_p.S547S			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	547	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GTCAAAGGTCGTCCAAGGTAG	0.527													40	7					3.61848e-18	4.30903e-18	1	0	T	69335139	G	T	69335139	2	4	3	1	0	0	0	0	0	0	0	1	10629	1132	40	3		3	NOX5	15	69335139	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	14777521	69335139	33196253	292	668											
KIAA1024	23251	broad.mit.edu	37	chr15	79749833	79749833	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccctgttgacctggagaaGcatgaaccagtcaaaaagtt	13	9	9	10	0	1	3	1	2	0	1	2	4	2	3	4	1	2	3	4	1	4	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:79749833G>C	ENST00000305428.3	+	2	1419	c.1344G>C	c.(1342-1344)aaG>aaC	p.K448N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	448						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ACCTGGAGAAGCATGAACCAG	0.488													64	19					0	0	0	0	C	79749833	G	C	79749833	3	2	3	1	0	0	0	0	1	0	0	0	8256	962	34	4	1346	4	KIAA1024	15	79749833	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	10414694	79749833	22781559	293	669											
C15orf32	145858	broad.mit.edu	37	chr15	93015432	93015432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagacttgcacccggctgaCccccagagtggggaaggggt	9	5	16	11	1	0	3	0	1	0	2	0	5	0	4	3	5	1	2	3	5	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:93015432C>A	ENST00000333334.2	+	1	549	c.54C>A	c.(52-54)gaC>gaA	p.D18E	C15orf32_ENST00000556865.1_Missense_Mutation_p.D18E	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	18										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			ACCCGGCTGACCCCCAGAGTG	0.527													74	16					9.21137e-24	1.16511e-23	1	0	A	93015432	C	A	93015432	3	1	3	1	0	0	0	0	1	0	0	0	1802	506	18	4	56	4	C15orf32	15	93015432	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	13265599	93015432	9515960	294	670											
STUB1	10273	broad.mit.edu	37	chr16	732421	732421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacccaggaacagctcatcCccaacttggctatgaaggag	12	7	10	12	0	1	2	1	2	0	0	2	4	2	4	3	3	3	2	3	3	4	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:732421C>T	ENST00000565677.1	+	7	1235	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	LA16c-313D11.10_ENST00000567405.2_RNA|STUB1_ENST00000564370.1_Missense_Mutation_p.P210S|STUB1_ENST00000219548.4_Missense_Mutation_p.P282S|JMJD8_ENST00000293882.4_3'UTR|LA16c-313D11.11_ENST00000565813.1_RNA|JMJD8_ENST00000412368.2_3'UTR|JMJD8_ENST00000454700.1_3'UTR			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	282					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				ACAGCTCATCCCCAACTTGGC	0.592													47	64					0	0	0	0	T	732421	C	T	732421	3	4	3	1	0	0	0	0	1	0	0	0	15425	623	22	4	870	4	STUB1	16	732421	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08		732421	89622332	295	671											
PTX4	390667	broad.mit.edu	37	chr16	1536306	1536306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgtggtgccactggccGtccagcagcagctgcaaggg	8	6	15	12	1	0	1	0	0	0	1	1	1	1	1	3	3	5	4	3	3	1	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:1536306G>T	ENST00000447419.2	-	3	1096	c.1071C>A	c.(1069-1071)gaC>gaA	p.D357E	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Missense_Mutation_p.D352E			Q96A99	PTX4_HUMAN	pentraxin 4, long	357	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCCACTGGCCGTCCAGCAGCA	0.672													28	31					2.12542e-12	2.37397e-12	1	0	T	1536306	G	T	1536306	3	4	3	1	0	0	0	0	1	0	0	0	12905	1136	40	3	368	3	PTX4	16	1536306	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	803885	1536306	88818447	296	672											
CREBBP	1387	broad.mit.edu	37	chr16	3778856	3778856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtcttgcagagcgctGggtgagatgctcctgggtgg	6	9	18	8	1	1	2	0	1	1	2	2	3	2	2	1	4	4	4	1	4	0	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:3778856G>A	ENST00000262367.5	-	31	7001	c.6192C>T	c.(6190-6192)ccC>ccT	p.P2064P	CREBBP_ENST00000382070.3_Silent_p.P2026P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2064					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCAGAGCGCTGGGTGAGATGC	0.642			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						23	41					0	0	0	0	A	3778856	G	A	3778856	2	1	3	1	0	0	0	0	0	0	0	1	3891	1335	47	4		4	CREBBP	16	3778856	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	2242550	3778856	86575897	297	673											
GLYR1	84656	broad.mit.edu	37	chr16	4855258	4855258	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtgtatgtaggctcggtaCacggcggacatatcgttgtc	8	12	13	8	4	0	0	0	0	0	0	3	1	0	1	0	4	1	5	0	4	5	6	rs138196315	by1000genomes	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:4855258C>A	ENST00000321919.9	-	16	1717	c.1641G>T	c.(1639-1641)gtG>gtT	p.V547V	GLYR1_ENST00000591451.1_Silent_p.V541V|GLYR1_ENST00000381983.3_Silent_p.V530V|GLYR1_ENST00000436648.5_Silent_p.V466V	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	547					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						AGGCTCGGTACACGGCGGACA	0.592													11	26					6.72482e-11	7.30213e-11	1	0	A	4855258	C	A	4855258	2	1	3	1	0	0	0	0	0	0	0	1	6534	465	17	4		4	GLYR1	16	4855258	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	1076402	4855258	85499495	298	674											
ACSM5	54988	broad.mit.edu	37	chr16	20430642	20430642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagtccattatcaccagtGactccctagctccaagggtg	10	9	8	14	0	1	1	1	1	0	0	4	1	4	1	5	1	1	1	5	1	4	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:20430642G>A	ENST00000331849.4	+	4	655	c.508G>A	c.(508-510)Gac>Aac	p.D170N	ACSM5_ENST00000575584.1_Missense_Mutation_p.D170N	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	170					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TATCACCAGTGACTCCCTAGC	0.582													39	55					0	0	0	0	A	20430642	G	A	20430642	3	1	3	1	0	0	0	0	1	0	0	0	187	1290	45	2	518	2	ACSM5	16	20430642	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	15575384	20430642	69924111	299	675											
ACSM3	6296	broad.mit.edu	37	chr16	20787221	20787221	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagaaatggagaagagatgCgatggagttttgaggaactg	15	8	15	3	1	0	4	0	1	0	3	0	9	0	6	0	3	2	1	0	3	3	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:20787221C>A	ENST00000289416.5	+	3	755	c.280C>A	c.(280-282)Cga>Aga	p.R94R	ACSM3_ENST00000440284.2_Silent_p.R94R|ACSM3_ENST00000450120.2_Silent_p.R49R	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	94					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGAAGAGATGCGATGGAGTTT	0.413													111	144					5.67207e-43	8.21836e-43	1	0	A	20787221	C	A	20787221	2	1	3	1	0	0	0	0	0	0	0	1	185	760	27	3		3	ACSM3	16	20787221	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	356579	20787221	69567532	300	676											
ZP2	7783	broad.mit.edu	37	chr16	21213115	21213115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaacgttgatgtttagtagCatgtcattcctgctataaga	11	15	8	7	1	2	2	2	1	0	1	3	2	3	2	1	0	3	5	1	0	5	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:21213115C>T	ENST00000574002.1	-	14	1898	c.1416G>A	c.(1414-1416)atG>atA	p.M472I	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.M463I|ZP2_ENST00000219593.4_Missense_Mutation_p.M472I			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	472	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGTTTAGTAGCATGTCATTCC	0.413													83	120					0	0	0	0	T	21213115	C	T	21213115	3	4	3	1	0	0	0	0	1	0	0	0	18309	710	25	4	849	4	ZP2	16	21213115	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	425894	21213115	69141638	301	677											
PRKCB	5579	broad.mit.edu	37	chr16	23847649	23847649	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagcagcccaccttctgcagCcactgcaccgacttcatctg	9	8	7	17	1	3	0	1	0	2	0	3	1	3	0	4	0	5	3	4	0	1	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:23847649C>G	ENST00000303531.7	+	1	305	c.153C>G	c.(151-153)agC>agG	p.S51R	PRKCB_ENST00000498058.1_Missense_Mutation_p.S51R|PRKCB_ENST00000321728.7_Missense_Mutation_p.S51R	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	51					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CCTTCTGCAGCCACTGCACCG	0.687													45	73					0	0	0	0	G	23847649	C	G	23847649	3	3	3	1	0	0	0	0	1	0	0	0	12588	738	26	4	155	4	PRKCB	16	23847649	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	2634534	23847649	66507104	302	678											
ARHGAP17	55114	broad.mit.edu	37	chr16	24980015	24980015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagagggtccacgatctcCttctcaacaaagacttcgtg	11	10	8	12	2	2	2	1	0	2	2	6	3	3	2	2	1	2	0	2	1	3	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:24980015C>A	ENST00000289968.6	-	5	420	c.351G>T	c.(349-351)aaG>aaT	p.K117N	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.K117N|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.K117N|ARHGAP17_ENST00000575975.1_5'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	117	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CCACGATCTCCTTCTCAACAA	0.537													86	109					2.58158e-40	3.67228e-40	1	0	A	24980015	C	A	24980015	3	1	3	1	0	0	0	0	1	0	0	0	869	680	24	4	2358	4	ARHGAP17	16	24980015	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	1132366	24980015	65374738	303	679											
RBL2	5934	broad.mit.edu	37	chr16	53503839	53503839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgaccctaggcataacatctCcaaccacattatacgatagg	14	9	6	12	1	1	1	0	1	1	0	2	2	1	1	3	2	3	1	3	2	6	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:53503839C>G	ENST00000262133.6	+	15	2124	c.1987C>G	c.(1987-1989)Cca>Gca	p.P663A	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	663	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CATAACATCTCCAACCACATT	0.453													69	58					0	0	0	0	G	53503839	C	G	53503839	3	3	3	1	0	0	0	0	1	0	0	0	13192	855	30	2	2045	2	RBL2	16	53503839	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	28523824	53503839	36850914	304	680											
CIRH1A	84916	broad.mit.edu	37	chr16	69184450	69184450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattcctcagcaagaagacaGtttcgtggtgggcacagccg	11	8	12	10	2	1	2	1	0	0	2	3	2	2	2	2	2	2	3	2	2	3	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:69184450G>T	ENST00000563094.1	+	7	783	c.749G>T	c.(748-750)aGt>aTt	p.S250I	CIRH1A_ENST00000352319.4_Missense_Mutation_p.S250I|CIRH1A_ENST00000569615.2_3'UTR|CIRH1A_ENST00000314423.7_Missense_Mutation_p.S250I			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	250						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CAAGAAGACAGTTTCGTGGTG	0.488											OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	485	93					1.38385e-241	2.18061e-241	1	0	T	69184450	G	T	69184450	3	4	3	1	0	0	0	0	1	0	0	0	3463	1029	36	4	771	4	CIRH1A	16	69184450	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	15680611	69184450	21170303	305	681											
ZNF23	7571	broad.mit.edu	37	chr16	71483245	71483245	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaagcttttcccacacTccacacatttgaagggtttc	10	12	7	12	0	0	2	0	2	0	0	3	2	2	2	2	1	2	3	2	1	2	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:71483245T>C	ENST00000393539.2	-	6	1496	c.683A>G	c.(682-684)gAg>gGg	p.E228G	ZNF23_ENST00000417828.1_Missense_Mutation_p.E228G|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.E170G|ZNF23_ENST00000539742.1_5'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.E170G|ZNF23_ENST00000357254.4_Missense_Mutation_p.E228G	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTTCCCACACTCCACACATTT	0.453													51	592					0	0	0	0	C	71483245	T	C	71483245	3	2	3	1	0	0	0	0	1	0	0	0	17878	1551	54	5	1252	5	ZNF23	16	71483245	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	2298795	71483245	18871508	306	682											
BCAR1	9564	broad.mit.edu	37	chr16	75269450	75269450	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccaggggttcccggccCggccctgccacctccaagga	6	5	12	18	2	0	0	0	0	0	0	3	1	3	1	7	5	2	2	7	5	1	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:75269450C>A	ENST00000546196.1	-	5	2912	c.1260G>T	c.(1258-1260)ccG>ccT	p.P420P	BCAR1_ENST00000535626.2_Silent_p.P301P|BCAR1_ENST00000418647.3_Silent_p.P495P|BCAR1_ENST00000162330.5_Silent_p.P449P|BCAR1_ENST00000393422.2_Silent_p.P467P|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000542031.2_Silent_p.P447P|BCAR1_ENST00000393420.6_Silent_p.P467P|BCAR1_ENST00000538440.2_Silent_p.P449P|BCAR1_ENST00000420641.3_Silent_p.P467P			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	449					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTCCCGGCCCGGCCCTGCCA	0.697													17	3					7.07596e-05	7.34268e-05	1	0	A	75269450	C	A	75269450	2	1	3	1	0	0	0	0	0	0	0	1	1352	639	23	3		3	BCAR1	16	75269450	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	3786205	75269450	15085303	307	683											
C16orf46	123775	broad.mit.edu	37	chr16	81094970	81094970	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagctttgcactccccgtttCtgcagaagctgcaaggcagc	8	10	10	13	1	1	1	0	0	1	1	2	1	2	1	2	1	6	7	2	1	3	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:81094970C>T	ENST00000378611.4	-	3	1099	c.984G>A	c.(982-984)caG>caA	p.Q328Q	C16orf46_ENST00000299578.5_Silent_p.Q328Q|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	328										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CTCCCCGTTTCTGCAGAAGCT	0.542													72	120					0	0	0	0	T	81094970	C	T	81094970	2	4	3	1	0	0	0	0	0	0	0	1	1828	912	32	2		2	C16orf46	16	81094970	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	5825520	81094970	9259783	308	684											
TSR1	55720	broad.mit.edu	37	chr17	2238189	2238189	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcccctggacagctagTgctgtaagcgaaagagaaaa	16	6	11	8	1	0	1	0	0	0	1	1	5	1	2	2	1	3	3	2	1	6	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:2238189T>A	ENST00000301364.4	-	5	1637	c.556_splice	c.e5-1	p.T186_splice		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	186					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGACAGCTAGTGCTGTAAGCG	0.453													80	98					0	0	0	0	A	2238189	T	A	2238189	5	1	3	1	0	0	0	0	0	0	1	0	16759	1710	59	5	1900	5	TSR1	17	2238189	Splice_Site	SNP	T	TCGA-BA-4076-01A-01D-1434-08		2238189	78957021	309	685											
NEURL4	84461	broad.mit.edu	37	chr17	7230998	7230998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagctccccagcaactgtgCgctccacgcccacgcggtcc	7	5	10	19	4	0	0	0	0	0	0	3	1	3	0	5	1	4	3	5	1	2	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:7230998C>T	ENST00000399464.2	-	2	503	c.488G>A	c.(487-489)cGc>cAc	p.R163H	NEURL4_ENST00000570460.1_Missense_Mutation_p.R163H|NEURL4_ENST00000315614.7_Missense_Mutation_p.R163H	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCAACTGTGCGCTCCACGCC	0.642													65	95					0	0	0	0	T	7230998	C	T	7230998	3	4	3	1	0	0	0	0	1	0	0	0	10417	768	27	1	4312	1	NEURL4	17	7230998	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	4992809	7230998	73964212	310	686											
TP53	7157	broad.mit.edu	37	chr17	7578523	7578523	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcaggtcttggccagtTggcaaaacatcttgttgagg	9	10	14	8	0	2	1	0	1	2	0	2	1	2	1	1	5	1	4	1	5	2	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:7578523T>G	ENST00000420246.2	-	5	539	c.407A>C	c.(406-408)cAa>cCa	p.Q136P	TP53_ENST00000455263.2_Missense_Mutation_p.Q136P|TP53_ENST00000445888.2_Missense_Mutation_p.Q136P|TP53_ENST00000269305.4_Missense_Mutation_p.Q136P|TP53_ENST00000359597.4_Missense_Mutation_p.Q136P|TP53_ENST00000413465.2_Missense_Mutation_p.Q136P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q136P(3)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136R(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.C42fs*9(1)|p.Y126fs*11(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C3fs*9(1)|p.Q136L(1)|p.Q136_K139delQLAK(1)|p.C135_A138delCQLA(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTGGCCAGTTGGCAAAACAT	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	39					0	0	0	0	G	7578523	T	G	7578523	3	3	3	1	0	0	0	0	1	0	0	0	16476	1812	63	5	891	5	TP53	17	7578523	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	347525	7578523	73616687	311	687											
PER1	5187	broad.mit.edu	37	chr17	8044494	8044494	+	Missense_Mutation	SNP	T	T	A																															cttgaagccttggccccgccTtgggcctcctcgcagccctc																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:8044494T>A	ENST00000317276.4	-	23	4002	c.3765A>T	c.(3763-3765)caA>caT	p.Q1255H	PER1_ENST00000581082.1_Missense_Mutation_p.Q1232H	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1255	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGCCCCGCCTTGGGCCTCCT	0.637			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					179	268					0	0	0	0	A	8044494	T	A	8044494	3	1	3	1	0	0	0	0	1	0	0	0	11800	1606	56	5	111	5	PER1	17	8044494	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	465971	8044494	73150716	312	688	11	2									
PER1	5187	broad.mit.edu	37	chr17	8044495	8044495	+	Missense_Mutation	SNP	T	T	A																															ttgaagccttggccccgcctTgggcctcctcgcagccctct																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:8044495T>A	ENST00000317276.4	-	23	4001	c.3764A>T	c.(3763-3765)cAa>cTa	p.Q1255L	PER1_ENST00000581082.1_Missense_Mutation_p.Q1232L	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1255	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCCCGCCTTGGGCCTCCTC	0.642			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					177	260					0	0	0	0	A	8044495	T	A	8044495	3	1	3	1	0	0	0	0	1	0	0	0	11800	1812	63	5	112	5	PER1	17	8044495	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	1	8044495	73150715	313	689	11	2									
PIK3R6	146850	broad.mit.edu	37	chr17	8732225	8732225	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaactcccggtccggccgGaggccctgcagatccaagac	8	4	12	17	3	0	2	0	0	0	2	3	3	3	3	6	4	2	1	6	4	2	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:8732225G>T	ENST00000311434.9	-	11	1211	c.972C>A	c.(970-972)ctC>ctA	p.L324L	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	324					platelet activation	cytosol											GGTCCGGCCGGAGGCCCTGCA	0.657													14	23					1.5842e-08	1.68501e-08	1	0	T	8732225	G	T	8732225	2	4	3	1	0	0	0	0	0	0	0	1	11995	1161	41	2		2	PIK3R6	17	8732225	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	687730	8732225	72462985	314	690											
PMP22	5376	broad.mit.edu	37	chr17	15134181	15134181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgctttctgttttccCttcctcccttccctatgtac	2	20	4	15	0	2	0	0	0	2	0	6	0	6	0	4	0	2	3	4	0	2	8			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:15134181C>A	ENST00000494511.1	-	3	523	c.357G>T	c.(355-357)aaG>aaT	p.K119N	PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000312280.3_3'UTR|PMP22_ENST00000395938.2_3'UTR			Q01453	PMP22_HUMAN	peripheral myelin protein 22	0					peripheral nervous system development|synaptic transmission	integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		TCTGTTTTCCCTTCCTCCCTT	0.507													58	79					2.14255e-21	2.64568e-21	1	0	A	15134181	C	A	15134181	3	1	3	1	0	0	0	0	1	0	0	0	12211	696	24	4		4	PMP22	17	15134181	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	6401956	15134181	66061029	315	691											
KCNJ12	3768	broad.mit.edu	37	chr17	21319071	21319071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcctcttctccatcgaGacgcagaccaccatcggcta	8	9	7	17	3	2	2	0	0	2	2	6	3	3	2	5	1	0	2	5	1	1	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:21319071G>T	ENST00000583088.1	+	3	1312	c.417G>T	c.(415-417)gaG>gaT	p.E139D	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E139D	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TCTCCATCGAGACGCAGACCA	0.672										Prostate(3;0.18)			7	22					0.000442599	0.000455245	1	0	T	21319071	G	T	21319071	3	4	3	1	0	0	0	0	1	0	0	0	8099	933	33	2	419	2	KCNJ12	17	21319071	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	6184890	21319071	59876139	316	692											
ATAD5	79915	broad.mit.edu	37	chr17	29220783	29220783	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaactgcaggaaaaaaaTgttctgcccttgtttctcat	14	12	6	9	0	2	0	1	0	2	0	3	1	2	1	1	1	4	3	1	1	5	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:29220783T>A	ENST00000321990.4	+	21	5290	c.4912T>A	c.(4912-4914)Tgt>Agt	p.C1638S		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1638					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGAAAAAAATGTTCTGCCCT	0.378													106	180					0	0	0	0	A	29220783	T	A	29220783	3	1	3	1	0	0	0	0	1	0	0	0	1080	1464	51	5	4994	5	ATAD5	17	29220783	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	7901712	29220783	51974427	317	693											
MYO1D	4642	broad.mit.edu	37	chr17	31107692	31107692	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtctctcatacagctcaCggcctttatactgctcaatt	8	13	7	13	2	4	0	3	0	1	0	5	0	4	0	1	2	4	2	1	2	4	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:31107692C>T	ENST00000394649.4	-	0	485				MYO1D_ENST00000579584.1_Missense_Mutation_p.R69H|MYO1D_ENST00000318217.5_Missense_Mutation_p.R69H|MYO1D_ENST00000583621.1_Missense_Mutation_p.R69H			O94832	MYO1D_HUMAN	myosin ID							myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ATACAGCTCACGGCCTTTATA	0.448													67	73					0	0	0	0	T	31107692	C	T	31107692	1	4	3	1	0	0	0	0	0	0	0	0	10141	536	19	1		1	MYO1D	17	31107692	Translation_Start_Site	SNP	C	TCGA-BA-4076-01A-01D-1434-08	1886909	31107692	50087518	318	694											
UNC45B	146862	broad.mit.edu	37	chr17	33501357	33501357	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagcagatagtgccatcCtcactgaccagaccaaggag	14	6	10	11	0	1	4	1	2	0	2	2	5	2	5	4	1	2	1	4	1	3	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:33501357C>G	ENST00000268876.5	+	14	2030	c.1933C>G	c.(1933-1935)Ctc>Gtc	p.L645V	UNC45B_ENST00000591048.1_Missense_Mutation_p.L564V|UNC45B_ENST00000394570.2_Missense_Mutation_p.L643V|UNC45B_ENST00000378449.1_Missense_Mutation_p.L564V|UNC45B_ENST00000433649.1_Missense_Mutation_p.L643V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	645					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TAGTGCCATCCTCACTGACCA	0.597													4	108					0	0	0	0	G	33501357	C	G	33501357	3	3	3	1	0	0	0	0	1	0	0	0	17085	681	24	4	1983	4	UNC45B	17	33501357	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	2393665	33501357	47693853	319	695											
SMCHD1	23347	broad.mit.edu	37	chr18	2751280	2751280	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtttaccatgacagatttTatgattagtgttatttctga	11	18	7	5	1	1	4	0	3	1	1	1	4	1	4	1	0	1	2	1	0	4	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:2751280T>C	ENST00000320876.6	+	33	4508	c.4170T>C	c.(4168-4170)ttT>ttC	p.F1390F	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.F1390F	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1390					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGACAGATTTTATGATTAGTG	0.303													17	334					0	0	0	0	C	2751280	T	C	2751280	2	2	3	1	0	0	0	0	0	0	0	1	14876	1751	61	5		5	SMCHD1	18	2751280	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08		2751280	75325968	320	696											
ARHGAP28	79822	broad.mit.edu	37	chr18	6882171	6882171	+	Silent	SNP	T	T	G																															cttgatgccaagtttaatgcTgataaatttaaatgggacaa																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:6882171T>G	ENST00000419673.2	+	10	1066	c.849T>G	c.(847-849)gcT>gcG	p.A283A	ARHGAP28_ENST00000400091.2_Silent_p.A442A|ARHGAP28_ENST00000314319.3_Silent_p.A283A|ARHGAP28_ENST00000262227.3_Silent_p.A390A|ARHGAP28_ENST00000383472.4_Silent_p.A442A|ARHGAP28_ENST00000418986.1_Silent_p.A283A|ARHGAP28_ENST00000531294.1_Silent_p.A278A|ARHGAP28_ENST00000532996.1_Silent_p.A265A	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	265					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AGTTTAATGCTGATAAATTTA	0.398													131	80					0	0	0	0	G	6882171	T	G	6882171	2	3	3	1	0	0	0	0	0	0	0	1	879	1567	55	5		5	ARHGAP28	18	6882171	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08	4130891	6882171	71195077	321	697	12	2									
ARHGAP28	79822	broad.mit.edu	37	chr18	6882172	6882172	+	Missense_Mutation	SNP	G	G	T																															ttgatgccaagtttaatgctGataaatttaaatgggacaaa																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:6882172G>T	ENST00000419673.2	+	10	1067	c.850G>T	c.(850-852)Gat>Tat	p.D284Y	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.D443Y|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.D284Y|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.D391Y|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.D443Y|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.D284Y|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.D279Y|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.D266Y	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	266					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GTTTAATGCTGATAAATTTAA	0.393													132	80					1.21017e-56	1.81525e-56	1	0	T	6882172	G	T	6882172	3	4	3	1	0	0	0	0	1	0	0	0	879	1290	45	2	884	2	ARHGAP28	18	6882172	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	1	6882172	71195076	322	698	12	2									
LAMA1	284217	broad.mit.edu	37	chr18	7015791	7015791	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacttcacaccctgtgtgTgaggggggcagacacactct	9	8	11	13	0	2	2	1	1	1	1	2	2	2	2	1	3	0	1	1	3	0	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:7015791T>C	ENST00000389658.3	-	22	3149	c.3056A>G	c.(3055-3057)cAc>cGc	p.H1019R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1019	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCCTGTGTGTGAGGGGGGCA	0.542													70	259					0	0	0	0	C	7015791	T	C	7015791	3	2	3	1	0	0	0	0	1	0	0	0	8658	1696	59	5	6339	5	LAMA1	18	7015791	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	133619	7015791	71061457	323	699											
PPP4R1	9989	broad.mit.edu	37	chr18	9563520	9563520	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatccaggctggaagcacgTagtgcagcggacagcacttc	10	6	13	12	2	0	0	0	0	0	0	2	2	1	2	1	3	4	6	1	3	2	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:9563520T>A	ENST00000400556.3	-	12	1675	c.1602A>T	c.(1600-1602)ctA>ctT	p.L534L	PPP4R1_ENST00000400555.3_Silent_p.L517L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	534					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TGGAAGCACGTAGTGCAGCGG	0.403													47	163					0	0	0	0	A	9563520	T	A	9563520	2	1	3	1	0	0	0	0	0	0	0	1	12479	1625	57	5		5	PPP4R1	18	9563520	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08	2547729	9563520	68513728	324	700											
ROCK1	6093	broad.mit.edu	37	chr18	18600198	18600198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttttttgcaaactttcCtgctttaatttaaaacaaaa	14	18	3	6	0	0	0	0	0	0	0	1	0	1	0	1	0	4	3	1	0	6	9			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:18600198C>A	ENST00000399799.1	-	12	2215	c.1275G>T	c.(1273-1275)caG>caT	p.Q425H		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	425	Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GCAAACTTTCCTGCTTTAATT	0.269													21	48					7.45023e-12	8.18475e-12	1	0	A	18600198	C	A	18600198	3	1	3	1	0	0	0	0	1	0	0	0	13602	680	24	4	2877	4	ROCK1	18	18600198	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	9036678	18600198	59477050	325	701											
NPC1	4864	broad.mit.edu	37	chr18	21124402	21124402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caatgagggtcaagggcaacCcaatgtagctgaagacaccc	14	5	11	11	0	1	3	1	2	0	1	1	3	1	3	2	2	2	3	2	2	6	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:21124402C>A	ENST00000269228.5	-	13	2590	c.2036G>T	c.(2035-2037)gGg>gTg	p.G679V	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.G361V	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	679	SSD.				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)					CAAGGGCAACCCAATGTAGCT	0.547													161	53					1.11508e-49	1.64624e-49	1	0	A	21124402	C	A	21124402	3	1	3	1	0	0	0	0	1	0	0	0	10640	623	22	4	1852	4	NPC1	18	21124402	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	2524204	21124402	56952846	326	702											
ASXL3	80816	broad.mit.edu	37	chr18	31318971	31318971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaatgacagttgttatcGatcagttagaagtctgtgac	14	12	10	5	1	2	4	1	2	1	2	3	5	2	4	0	0	0	3	0	0	5	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:31318971G>A	ENST00000269197.5	+	11	1603	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGTTGTTATCGATCAGTTAGA	0.393													14	57					0	0	0	0	A	31318971	G	A	31318971	3	1	3	1	0	0	0	0	1	0	0	0	1072	1058	37	1	1645	1	ASXL3	18	31318971	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	10194569	31318971	46758277	327	703											
ASXL3	80816	broad.mit.edu	37	chr18	31326256	31326256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaggtgcagcaacaacaGcagctctgtggaaattatcc	13	8	10	10	0	1	0	0	0	1	0	2	1	2	1	1	2	7	5	1	2	4	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:31326256G>T	ENST00000269197.5	+	12	6444	c.6444G>T	c.(6442-6444)caG>caT	p.Q2148H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGCAACAACAGCAGCTCTGTG	0.433													225	117					1.76002e-104	2.71845e-104	1	0	T	31326256	G	T	31326256	3	4	3	1	0	0	0	0	1	0	0	0	1072	962	34	4	6490	4	ASXL3	18	31326256	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	7285	31326256	46750992	328	704											
SYT4	6860	broad.mit.edu	37	chr18	40850486	40850486	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaacacttatatcttcaagGccctcacaaggaatatcaaa	16	10	4	11	0	5	0	4	0	1	0	5	1	5	1	1	2	1	0	1	2	8	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:40850486G>T	ENST00000255224.3	-	4	1466	c.1098C>A	c.(1096-1098)ggC>ggA	p.G366G	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Silent_p.G348G	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	366	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TATCTTCAAGGCCCTCACAAG	0.433													54	35					1.67211e-32	2.25518e-32	1	0	T	40850486	G	T	40850486	2	4	3	1	0	0	0	0	0	0	0	1	15567	1190	42	4		4	SYT4	18	40850486	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	9524230	40850486	37226762	329	705											
CDC34	997	broad.mit.edu	37	chr19	532007	532007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgcaggaagagccggtcGagggattccgcgtgacactg	8	6	17	10	4	0	2	0	1	0	1	2	5	1	4	2	4	2	2	2	4	1	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:532007G>A	ENST00000215574.4	+	1	294	c.76G>A	c.(76-78)Gag>Aag	p.E26K		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	26					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGAGCCGGTCGAGGGATTCCG	0.672													3	3					0	0	0	0	A	532007	G	A	532007	3	1	3	1	0	0	0	0	1	0	0	0	3096	1059	37	1	78	1	CDC34	19	532007	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08		532007	58596976	330	706											
UBXN6	80700	broad.mit.edu	37	chr19	4454069	4454069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggctggctggttgggCttctctttgtgggccttttc	0	16	16	9	0	1	0	0	0	1	0	3	0	1	0	1	6	0	4	1	6	0	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:4454069C>A	ENST00000301281.6	-	2	229	c.105G>T	c.(103-105)aaG>aaT	p.K35N	UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	35						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GCTGGTTGGGCTTCTCTTTGT	0.657													143	34					3.36649e-63	5.13197e-63	1	0	A	4454069	C	A	4454069	3	1	3	1	0	0	0	0	1	0	0	0	17013	796	28	4	1260	4	UBXN6	19	4454069	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	3922062	4454069	54674914	331	707											
MUC16	94025	broad.mit.edu	37	chr19	9071035	9071035	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttggttagtctgagagaTattaggagttgatgtggaaa	13	14	13	1	0	1	3	0	2	1	1	1	6	1	5	0	3	0	2	0	3	5	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:9071035T>C	ENST00000397910.4	-	3	16614	c.16411A>G	c.(16411-16413)Atc>Gtc	p.I5471V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5473	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						GTCTGAGAGATATTAGGAGTT	0.507													140	21					0	0	0	0	C	9071035	T	C	9071035	3	2	3	1	0	0	0	0	1	0	0	0	10043	1406	49	5	27440	5	MUC16	19	9071035	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	4616966	9071035	50057948	332	708											
CYP4F12	66002	broad.mit.edu	37	chr19	15807871	15807871	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttggctgcgggtggaGcccctgaatgtaagcttgca	6	10	16	9	1	0	1	0	1	0	0	0	2	0	2	2	4	4	5	2	4	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:15807871G>A	ENST00000550308.1	+	13	1931	c.1551G>A	c.(1549-1551)gaG>gaA	p.E517E	CYP4F12_ENST00000324632.9_Silent_p.E517E	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGCGGGTGGAGCCCCTGAATG	0.567													45	81					0	0	0	0	A	15807871	G	A	15807871	2	1	3	1	0	0	0	0	0	0	0	1	4219	962	34	4		4	CYP4F12	19	15807871	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	6736836	15807871	43321112	333	709											
ISYNA1	51477	broad.mit.edu	37	chr19	18545774	18545774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgcccattggcatcaccGgtgcagccattggtggcagc	8	8	13	12	1	1	1	1	0	0	1	1	1	1	1	3	4	4	3	3	4	0	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:18545774G>A	ENST00000545187.1	-	8	1462	c.1176C>T	c.(1174-1176)acC>acT	p.T392T	ISYNA1_ENST00000338128.7_Silent_p.T542T|ISYNA1_ENST00000457269.3_Silent_p.T488T|ISYNA1_ENST00000578963.1_Silent_p.T414T|ISYNA1_ENST00000317018.6_Silent_p.T340T			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	542				S -> G (in Ref. 7; AAH66902).	inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TGGCATCACCGGTGCAGCCAT	0.647													4	142					0	0	0	0	A	18545774	G	A	18545774	2	1	3	1	0	0	0	0	0	0	0	1	7920	1103	39	1		1	ISYNA1	19	18545774	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	2737903	18545774	40583209	334	710											
ZNF208	7757	broad.mit.edu	37	chr19	22155761	22155761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacattcttcacatttgtagGgtttctctccagtatgaatt	9	17	6	9	0	3	1	1	1	2	0	5	1	4	1	1	1	0	3	1	1	3	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:22155761G>T	ENST00000397126.4	-	4	2223	c.2075C>A	c.(2074-2076)cCc>cAc	p.P692H	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTTGTAGGGTTTCTCTCC	0.383													47	99					4.33383e-22	5.3657e-22	1	0	T	22155761	G	T	22155761	3	4	3	1	0	0	0	0	1	0	0	0	17861	1232	43	4	1771	4	ZNF208	19	22155761	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	3609987	22155761	36973222	335	711											
ZNF98	148198	broad.mit.edu	37	chr19	22574982	22574982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccttaccacattcttcaCatttgtagaatttctctcca	10	15	4	12	0	3	1	1	0	2	1	5	1	4	1	3	1	1	1	3	1	3	6	rs74170714		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:22574982C>T	ENST00000357774.5	-	4	1176	c.1055G>A	c.(1054-1056)tGt>tAt	p.C352Y		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ACATTCTTCACATTTGTAGAA	0.393													14	38					0	0	0	0	T	22574982	C	T	22574982	3	4	3	1	0	0	0	0	1	0	0	0	18296	478	17	4	667	4	ZNF98	19	22574982	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	419221	22574982	36554001	336	712											
ZNF99	7652	broad.mit.edu	37	chr19	22941189	22941189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acattcttcacatttgcaagGtttctcttccatatgaatta	11	17	4	9	0	3	1	1	1	2	0	5	1	4	1	1	1	1	2	1	1	4	7			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:22941189G>T	ENST00000397104.3	-	5	1248	c.1249C>A	c.(1249-1251)Cct>Act	p.P417T	ZNF99_ENST00000596209.1_Missense_Mutation_p.P508T					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTTGCAAGGTTTCTCTTCC	0.353													50	65					7.05377e-20	8.55224e-20	1	0	T	22941189	G	T	22941189	3	4	3	1	0	0	0	0	1	0	0	0	18297	1261	44	4	1875	4	ZNF99	19	22941189	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	366207	22941189	36187794	337	713											
CCNE1	898	broad.mit.edu	37	chr19	30312979	30312979	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggttgcatatctaaatgActtacatgaagtgctactgc	12	12	9	8	0	1	2	0	2	1	0	1	2	1	2	0	1	5	4	0	1	6	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:30312979A>G	ENST00000262643.3	+	9	1061	c.782A>G	c.(781-783)gAc>gGc	p.D261G	CCNE1_ENST00000444983.2_Missense_Mutation_p.D246G|CCNE1_ENST00000357943.5_Missense_Mutation_p.D218G	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	261					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TATCTAAATGACTTACATGAA	0.473			A		serous ovarian								99	120					0	0	0	0	G	30312979	A	G	30312979	3	3	3	1	0	0	0	0	1	0	0	0	2949	275	10	5	812	5	CCNE1	19	30312979	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	7371790	30312979	28816004	338	714											
SIGLEC9	27180	broad.mit.edu	37	chr19	51631242	51631242	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgactcagggggtggtcgGgggagctggagccacagccc	7	5	19	10	1	1	1	1	1	0	0	2	3	1	3	2	6	3	1	2	6	0	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:51631242G>T	ENST00000440804.3	+	5	1119	c.1052G>T	c.(1051-1053)gGg>gTg	p.G351V	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G351V	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	351					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGGGTGGTCGGGGGAGCTGGA	0.552													83	233					1.46924e-35	2.04037e-35	1	0	T	51631242	G	T	51631242	3	4	3	1	0	0	0	0	1	0	0	0	14403	1232	43	4	1070	4	SIGLEC9	19	51631242	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	21318263	51631242	7497741	339	715											
ZNF845	91664	broad.mit.edu	37	chr19	53856114	53856114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgtggcaaggccttcaGtcagaagtcatcccttacat	10	11	10	10	0	3	2	3	1	0	1	4	2	4	2	2	2	1	1	2	2	3	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:53856114G>T	ENST00000458035.1	+	4	2303	c.2186G>T	c.(2185-2187)aGt>aTt	p.S729I	ZNF845_ENST00000595091.1_Missense_Mutation_p.S729I	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	729				Missing (in Ref. 1; BAG58121).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAGGCCTTCAGTCAGAAGTCA	0.418													55	102					5.39261e-20	6.55517e-20	1	0	T	53856114	G	T	53856114	3	4	3	1	0	0	0	0	1	0	0	0	18284	1029	36	4	2196	4	ZNF845	19	53856114	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	2224872	53856114	5272869	340	716											
LILRB2	10288	broad.mit.edu	37	chr19	54782747	54782747	+	Frame_Shift_Del	DEL	C	C	-																															caccgtagcatctgtactggCccccgtaggagcggctcaca																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:54782747delC	ENST00000391748.1	-	6	1002	c.875delG	c.(874-876)gcfs	p.G292fs	LILRB2_ENST00000434421.1_Frame_Shift_Del_p.G176fs|LILRB2_ENST00000391749.4_Frame_Shift_Del_p.G292fs|LILRB2_ENST00000314446.5_Frame_Shift_Del_p.G292fs|LILRB2_ENST00000391746.1_Frame_Shift_Del_p.G292fs	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	292	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTGTACTGGCCCCCGTAGGA	0.677													47	50	---	---	---	---					-	54782747	C	-	54782747	7	5	3	1	0	1	0	1	0	0	0	0	8845	739	26	0	957	0	LILRB2	19	54782747	Frame_Shift_Del	DEL	C	TCGA-BA-4076-01A-01D-1434-08	926633	54782747	4346236	341	717											
LILRA5	353514	broad.mit.edu	37	chr19	54822656	54822656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctggcttccctgaattGtactagagaagactgtggct	8	13	11	9	0	1	3	0	1	1	2	2	4	2	3	1	2	1	3	1	2	4	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:54822656G>T	ENST00000446712.3	-	4	782	c.704C>A	c.(703-705)aCa>aAa	p.T235K	LILRA5_ENST00000301219.3_Intron|LILRA5_ENST00000346508.3_Intron|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Missense_Mutation_p.T247K	NM_181986.2	NP_871715.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	0					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCCTGAATTGTACTAGAGAA	0.527													41	74					9.85913e-13	1.10649e-12	1	0	T	54822656	G	T	54822656	3	4	3	1	0	0	0	0	1	0	0	0	8842	1377	48	4	257	4	LILRA5	19	54822656	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	39909	54822656	4306327	342	718											
LAIR1	3903	broad.mit.edu	37	chr19	54868568	54868568	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgtccgacggcctctgCgtgggtcctgggagggagga	4	9	18	10	3	1	0	0	0	1	0	3	4	3	3	3	5	1	1	3	5	0	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:54868568C>T	ENST00000391743.3	-	4	649	c.369G>A	c.(367-369)acG>acA	p.T123T	LAIR1_ENST00000434277.2_Silent_p.T140T|LAIR1_ENST00000348231.4_Silent_p.T124T|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000313038.6_Silent_p.T134T|LAIR1_ENST00000391742.2_Silent_p.T141T|LAIR1_ENST00000474878.1_Silent_p.T123T			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	141						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACGGCCTCTGCGTGGGTCCTG	0.592													14	19					0	0	0	0	T	54868568	C	T	54868568	2	4	3	1	0	0	0	0	0	0	0	1	8655	755	27	1		1	LAIR1	19	54868568	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	45912	54868568	4260415	343	719											
LILRA2	11027	broad.mit.edu	37	chr19	55087544	55087544	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacccctacctgctgtctcTccccagtgaccccctggagc	6	8	7	20	0	1	1	0	1	1	0	3	2	2	2	7	1	4	1	7	1	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:55087544T>A	ENST00000251377.3	+	7	1356	c.1223T>A	c.(1222-1224)cTc>cAc	p.L408H	LILRA2_ENST00000391738.3_Missense_Mutation_p.L408H|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.L408H|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.L396H					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTGCTGTCTCTCCCCAGTGAC	0.622													79	114					0	0	0	0	A	55087544	T	A	55087544	3	1	3	1	0	0	0	0	1	0	0	0	8839	1551	54	5	1245	5	LILRA2	19	55087544	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	218976	55087544	4041439	344	720											
LILRA1	11024	broad.mit.edu	37	chr19	55106644	55106644	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtgaccctccattgtgtCtcacaggtggcatttggcag	8	11	11	11	1	1	1	1	1	1	0	3	1	2	1	2	3	1	2	2	3	1	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:55106644C>A	ENST00000453777.1	+	5	608	c.438C>A	c.(436-438)gtC>gtA	p.V146V	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Silent_p.V146V|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	146	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCCATTGTGTCTCACAGGTGG	0.567													79	110					1.39921e-30	1.86031e-30	1	0	A	55106644	C	A	55106644	2	1	3	1	0	0	0	0	0	0	0	1	8838	900	32	2		2	LILRA1	19	55106644	Silent	SNP	C	TCGA-BA-4076-01A-01D-1434-08	19100	55106644	4022339	345	721											
KIR3DL1	3811	broad.mit.edu	37	chr19	55341657	55341657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctcagaggcccaagacacCccctacagataccatcttgt	11	9	6	15	0	2	3	1	0	2	3	3	3	2	3	4	1	2	0	4	1	3	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:55341657C>A	ENST00000391728.4	+	9	1295	c.1262C>A	c.(1261-1263)cCc>cAc	p.P421H	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P421H|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P326H|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P404H|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P404H	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCCAAGACACCCCCTACAGAT	0.512													196	35					2.91701e-67	4.46131e-67	1	0	A	55341657	C	A	55341657	3	1	3	1	0	0	0	0	1	0	0	0	8372	623	22	4	1296	4	KIR3DL1	19	55341657	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	235013	55341657	3787326	346	722											
NLRP11	204801	broad.mit.edu	37	chr19	56300317	56300317	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcaagagatcgacagcagGcactggttaacatgcactct	13	7	11	10	1	1	1	0	0	1	1	2	3	1	1	0	3	3	5	0	3	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:56300317G>C	ENST00000443188.1	-	11	3421	c.2711C>G	c.(2710-2712)gCc>gGc	p.A904G	NLRP11_ENST00000589824.2_Missense_Mutation_p.A850G|NLRP11_ENST00000360133.3_Missense_Mutation_p.A850G|NLRP11_ENST00000592953.1_Missense_Mutation_p.A805G|NLRP11_ENST00000589093.1_Missense_Mutation_p.A904G	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	904							ATP binding	p.A904V(1)		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)		TCGACAGCAGGCACTGGTTAA	0.458													21	53					0	0	0	0	C	56300317	G	C	56300317	3	2	3	1	0	0	0	0	1	0	0	0	10543	1203	42	4	398	4	NLRP11	19	56300317	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	958660	56300317	2828666	347	723											
NLRP4	147945	broad.mit.edu	37	chr19	56390176	56390176	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggttggaagaatgtgggTtaacgagcacctgctgtaag	11	9	15	6	1	0	1	0	0	0	1	0	3	0	2	1	3	3	6	1	3	4	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:56390176T>A	ENST00000301295.6	+	9	3135	c.2713T>A	c.(2713-2715)Tta>Ata	p.L905I	NLRP4_ENST00000346986.5_Missense_Mutation_p.L849I|NLRP4_ENST00000587891.1_Missense_Mutation_p.L830I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	905							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGAATGTGGGTTAACGAGCAC	0.532													17	20					0	0	0	0	A	56390176	T	A	56390176	3	1	3	1	0	0	0	0	1	0	0	0	10549	1722	60	5	2743	5	NLRP4	19	56390176	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	89859	56390176	2738807	348	724											
NLRP5	126206	broad.mit.edu	37	chr19	56539074	56539074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtggtgggggagagcgtcgCccccttcaaccaaacgctca	8	6	13	14	4	2	1	2	0	0	1	3	2	2	1	3	3	3	1	3	3	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:56539074C>A	ENST00000390649.3	+	7	1475	c.1475C>A	c.(1474-1476)gCc>gAc	p.A492D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	492	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGAGCGTCGCCCCCTTCAAC	0.632													26	32					1.42536e-11	1.55857e-11	1	0	A	56539074	C	A	56539074	3	1	3	1	0	0	0	0	1	0	0	0	10550	739	26	4	1501	4	NLRP5	19	56539074	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	148898	56539074	2589909	349	725											
ZIM3	114026	broad.mit.edu	37	chr19	57647166	57647166	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggtgactttgaaggcgtGactttgaactgaataacttt	11	14	10	6	1	1	5	1	5	0	0	1	5	1	5	0	2	2	0	0	2	4	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:57647166G>C	ENST00000269834.1	-	5	924	c.539C>G	c.(538-540)tCa>tGa	p.S180*		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTGAAGGCGTGACTTTGAACT	0.398													232	171					0	0	0	0	C	57647166	G	C	57647166	4	2	3	1	0	0	0	0	0	1	0	0	17780	1294	45	2	883	2	ZIM3	19	57647166	Nonsense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	1108092	57647166	1481817	350	726											
ZNF264	9422	broad.mit.edu	37	chr19	57723577	57723577	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcataccggggagaagccctAtgagtgcagtgaatgtggga	11	8	15	7	1	1	3	1	2	0	1	1	5	1	4	2	3	3	1	2	3	4	2	rs139216855		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:57723577A>C	ENST00000263095.6	+	4	1526	c.1112A>C	c.(1111-1113)tAt>tCt	p.Y371S	ZNF264_ENST00000536056.1_Missense_Mutation_p.Y371S	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GAGAAGCCCTATGAGTGCAGT	0.517													52	138					0	0	0	0	C	57723577	A	C	57723577	3	2	3	1	0	0	0	0	1	0	0	0	17899	449	16	5	1126	5	ZNF264	19	57723577	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	76411	57723577	1405406	351	727											
SLC24A3	57419	broad.mit.edu	37	chr20	19566110	19566110	+	Frame_Shift_Del	DEL	G	G	-																															ttcatcaccaaaggcgatgtGggagttggcaccatcgtggg																										TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr20:19566110delG	ENST00000328041.6	+	6	731	c.534delG	c.(532-534)gtfs	p.V178fs		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	178						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAGGCGATGTGGGAGTTGGCA	0.547													21	174	---	---	---	---					-	19566110	G	-	19566110	7	5	3	1	0	1	0	1	0	0	0	0	14555	1335	47	0	556	0	SLC24A3	20	19566110	Frame_Shift_Del	DEL	G	TCGA-BA-4076-01A-01D-1434-08		19566110	43459410	352	728											
EIF6	3692	broad.mit.edu	37	chr20	33867551	33867551	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggttcacagtccccgcCtgccaagggatgggctcaat	7	8	11	15	2	2	0	2	0	0	0	4	1	3	1	5	3	1	2	5	3	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr20:33867551C>T	ENST00000374450.3	-	6	811		c.e6-1		EIF6_ENST00000374443.3_Splice_Site|EIF6_ENST00000374436.3_Splice_Site|RP4-614O4.11_ENST00000444717.1_RNA	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6						mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGTCCCCGCCTGCCAAGGGA	0.587													36	50					0	0	0	0	T	33867551	C	T	33867551	5	4	3	1	0	0	0	0	0	0	1	0	5083	695	24	4	199	4	EIF6	20	33867551	Splice_Site	SNP	C	TCGA-BA-4076-01A-01D-1434-08	14301441	33867551	29157969	353	729											
BAGE2	85319	broad.mit.edu	37	chr21	11047562	11047562	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccctttgtcacacgtatcAcacactagcatcttgctatc	10	13	4	14	1	3	0	2	0	1	0	4	0	3	0	1	0	3	3	1	0	4	6			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:11047562A>G	ENST00000470054.1	-	0	692									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACACGTATCACACACTAGCA	0.333													32	640					0	0	0	0	G	11047562	A	G	11047562	1	3	3	0	1	0	0	0	0	0	0	0	1296	174	6	5		5	BAGE2	21	11047562	RNA	SNP	A	TCGA-BA-4076-01A-01D-1434-08		11047562	37082333	354	730											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007617	32007617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactactatggtggtctgcGttatggctatggagtcctgg	7	13	13	8	1	1	0	0	0	1	0	2	1	2	1	1	5	3	2	1	5	5	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:32007617G>A	ENST00000330798.2	+	1	63	c.35G>A	c.(34-36)cGt>cAt	p.R12H		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	12						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGTGGTCTGCGTTATGGCTAT	0.522													50	74					0	0	0	0	A	32007617	G	A	32007617	3	1	3	1	0	0	0	0	1	0	0	0	8589	1145	40	1	37	1	KRTAP20-2	21	32007617	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	20960055	32007617	16122278	355	731											
SYNJ1	8867	broad.mit.edu	37	chr21	34011284	34011284	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgaggtggtggttgtggTggggtttccaaatttggctg	4	15	17	5	1	0	0	0	0	0	0	2	1	1	0	1	7	0	3	1	7	1	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:34011284T>A	ENST00000382499.2	-	31	3965	c.3966A>T	c.(3964-3966)ccA>ccT	p.P1322P	SYNJ1_ENST00000357345.3_Silent_p.P1267P|SYNJ1_ENST00000322229.7_Silent_p.P1283P|SYNJ1_ENST00000433931.2_Silent_p.P1322P|SYNJ1_ENST00000382491.3_Silent_p.P1236P	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1283	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTGGTTGTGGTGGGGTTTCCA	0.507													142	238					0	0	0	0	A	34011284	T	A	34011284	2	1	3	1	0	0	0	0	0	0	0	1	15543	1683	59	5		5	SYNJ1	21	34011284	Silent	SNP	T	TCGA-BA-4076-01A-01D-1434-08	2003667	34011284	14118611	356	732											
KRTAP12-2	353323	broad.mit.edu	37	chr21	46086539	46086539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacaatgggcctgcagcTcacaggcacacacacagaag	15	3	9	14	0	1	1	1	0	0	1	1	1	1	1	1	2	2	3	1	2	2	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:46086539T>C	ENST00000360770.3	-	1	305	c.265A>G	c.(265-267)Agc>Ggc	p.S89G	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	89	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						GGCCTGCAGCTCACAGGCACA	0.632													31	44					0	0	0	0	C	46086539	T	C	46086539	3	2	3	1	0	0	0	0	1	0	0	0	8571	1551	54	5	179	5	KRTAP12-2	21	46086539	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	12075255	46086539	2043356	357	733											
PCNT	5116	broad.mit.edu	37	chr21	47821491	47821491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtgttaaagaaacagcaGatgagtagcttgcttctggc	12	10	13	6	0	1	3	0	1	1	2	1	4	1	3	0	2	4	5	0	2	4	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:47821491G>A	ENST00000359568.5	+	26	4925	c.4818G>A	c.(4816-4818)caG>caA	p.Q1606Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1606					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAAACAGCAGATGAGTAGCT	0.453													51	93					0	0	0	0	A	47821491	G	A	47821491	2	1	3	1	0	0	0	0	0	0	0	1	11661	933	33	2		2	PCNT	21	47821491	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	1734952	47821491	308404	358	734											
DIP2A	23181	broad.mit.edu	37	chr21	47910617	47910617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcccaccgcctcgagggatGagcgcttccggtcaggtagg	6	6	16	13	4	1	1	1	1	0	0	3	3	2	2	4	5	1	2	4	5	1	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:47910617G>A	ENST00000318711.7	+	3	451	c.268G>A	c.(268-270)Gag>Aag	p.E90K	DIP2A_ENST00000435722.3_Missense_Mutation_p.E90K|DIP2A_ENST00000417564.2_Missense_Mutation_p.E90K|DIP2A_ENST00000427143.2_Intron|DIP2A_ENST00000466639.1_Missense_Mutation_p.E90K|DIP2A_ENST00000457905.3_Missense_Mutation_p.E90K|DIP2A_ENST00000400274.1_Missense_Mutation_p.E90K	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	90					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTCGAGGGATGAGCGCTTCCG	0.592													6	7					0	0	0	0	A	47910617	G	A	47910617	3	1	3	1	0	0	0	0	1	0	0	0	4564	1291	45	2	278	2	DIP2A	21	47910617	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	89126	47910617	219278	359	735											
C22orf39	128977	broad.mit.edu	37	chr22	19431847	19431847	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggaggggggctctgcctcgGggcccacaccaggatgtgct	5	7	17	12	1	1	0	0	0	1	0	2	2	1	2	3	7	2	2	3	7	0	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:19431847G>C	ENST00000399562.3	-	3	802	c.259C>G	c.(259-261)Ccg>Gcg	p.P87A	HIRA_ENST00000546308.1_Intron|C22orf39_ENST00000333059.4_Missense_Mutation_p.P124A|C22orf39_ENST00000542103.1_Intron|C22orf39_ENST00000399568.1_Intron|HIRA_ENST00000541063.1_Intron	NM_173793.4	NP_776154.3	Q6P5X5	CV039_HUMAN	chromosome 22 open reading frame 39	87												Colorectal(54;0.0993)					CTCTGCCTCGGGGCCCACACC	0.622													26	44					0	0	0	0	C	19431847	G	C	19431847	3	2	3	1	0	0	0	0	1	0	0	0	2167	1232	43	4	117	4	C22orf39	22	19431847	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08		19431847	31872719	360	736											
CDC45	8318	broad.mit.edu	37	chr22	19471512	19471512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagagccttctgagaagcGcacacggttagaagaggtga	12	7	14	8	2	2	5	1	2	1	4	2	6	2	5	1	2	2	2	1	2	3	2			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:19471512G>A	ENST00000407835.1	+	6	726	c.470G>A	c.(469-471)cGc>cAc	p.R157H	CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_Missense_Mutation_p.R157H|CDC45_ENST00000404724.3_Missense_Mutation_p.R111H|CDC45_ENST00000263201.1_Missense_Mutation_p.R157H			O75419	CDC45_HUMAN	cell division cycle 45	157					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TCTGAGAAGCGCACACGGTTA	0.532													5	113					0	0	0	0	A	19471512	G	A	19471512	3	1	3	1	0	0	0	0	1	0	0	0	3110	1087	38	1	488	1	CDC45	22	19471512	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	39665	19471512	31833054	361	737											
MYO18B	84700	broad.mit.edu	37	chr22	26423401	26423401	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaccgttcctttctctcgggGatcaagaccattttgaagaa	11	12	8	10	2	2	3	1	1	1	2	5	4	3	4	3	2	1	1	3	2	4	4			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:26423401G>C	ENST00000335473.7	+	43	7711	c.7461G>C	c.(7459-7461)ggG>ggC	p.G2487G	MYO18B_ENST00000407587.2_Silent_p.G2488G|MYO18B_ENST00000536101.1_Silent_p.G2487G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2487						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTCTCTCGGGGATCAAGACCA	0.547													20	34					0	0	0	0	C	26423401	G	C	26423401	2	2	3	1	0	0	0	0	0	0	0	1	10136	1161	41	2		2	MYO18B	22	26423401	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	6951889	26423401	24881165	362	738											
FBXO7	25793	broad.mit.edu	37	chr22	32894327	32894327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccctatgttggagaccCaatcagttcactcattcctg	9	13	6	13	0	3	1	3	0	0	1	5	2	5	1	3	1	0	2	3	1	2	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:32894327C>A	ENST00000266087.7	+	9	1706	c.1379C>A	c.(1378-1380)cCa>cAa	p.P460Q	FBXO7_ENST00000397426.1_Missense_Mutation_p.P346Q|FBXO7_ENST00000382058.3_Missense_Mutation_p.P381Q	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	460					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTTGGAGACCCAATCAGTTCA	0.552													4	179					0.150653	0.151625	1	0	A	32894327	C	A	32894327	3	1	3	1	0	0	0	0	1	0	0	0	5805	594	21	4	1454	4	FBXO7	22	32894327	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	6470926	32894327	18410239	363	739											
MCM5	4174	broad.mit.edu	37	chr22	35804507	35804507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgcaggagctgcctgatGcagtcccccacggggagatg	8	6	15	12	1	0	2	0	1	0	1	1	4	1	3	3	3	5	4	3	3	0	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:35804507G>T	ENST00000216122.4	+	6	857	c.703G>T	c.(703-705)Gca>Tca	p.A235S	CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Missense_Mutation_p.A192S	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	235					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GCTGCCTGATGCAGTCCCCCA	0.617													42	48					9.84934e-19	1.1789e-18	1	0	T	35804507	G	T	35804507	3	4	3	1	0	0	0	0	1	0	0	0	9459	1319	46	4	721	4	MCM5	22	35804507	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	2910180	35804507	15500059	364	740											
SSTR3	6753	broad.mit.edu	37	chr22	37603211	37603211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccgaagaagcccagtgcgGccgtgtagatgatgaagccg	10	5	15	11	4	0	4	0	2	0	2	0	5	0	4	4	1	3	1	4	1	4	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:37603211G>A	ENST00000328544.3	-	2	1165	c.632C>T	c.(631-633)gCc>gTc	p.A211V	SSTR3_ENST00000402501.1_Missense_Mutation_p.A211V	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	211					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCCCAGTGCGGCCGTGTAGAT	0.692													18	32					0	0	0	0	A	37603211	G	A	37603211	3	1	3	1	0	0	0	0	1	0	0	0	15289	1203	42	4	628	4	SSTR3	22	37603211	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	1798704	37603211	13701355	365	741											
TRIOBP	11078	broad.mit.edu	37	chr22	38119740	38119740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acgatcccagagcctcctctCccaacagaaccactcaacga	13	5	5	18	2	2	2	1	0	1	2	5	4	4	2	5	0	4	0	5	0	3	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:38119740C>G	ENST00000406386.3	+	7	1432	c.1177C>G	c.(1177-1179)Ccc>Gcc	p.P393A	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	393					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					AGCCTCCTCTCCCAACAGAAC	0.562													96	102					0	0	0	0	G	38119740	C	G	38119740	3	3	3	1	0	0	0	0	1	0	0	0	16648	855	30	2	1195	2	TRIOBP	22	38119740	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	516529	38119740	13184826	366	742											
RBX1	9978	broad.mit.edu	37	chr22	41347432	41347432	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatggatgtggataccccGagcggcaccaacagcggcgc	9	4	15	13	5	0	0	0	0	0	0	0	4	0	2	3	4	4	1	3	4	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:41347432G>T	ENST00000216225.8	+	1	70	c.30G>T	c.(28-30)ccG>ccT	p.P10P	XPNPEP3_ENST00000544094.1_Intron	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	10					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						TGGATACCCCGAGCGGCACCA	0.637													11	19					0.0135373	0.0137727	1	0	T	41347432	G	T	41347432	2	4	3	1	0	0	0	0	0	0	0	1	13247	1045	37	3		3	RBX1	22	41347432	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	3227692	41347432	9957134	367	743											
EP300	2033	broad.mit.edu	37	chr22	41574850	41574850	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttctcagcttgctagcAatccaggcatggcaaacctc	9	11	8	13	0	1	0	1	0	1	0	4	0	2	0	2	2	5	6	2	2	3	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:41574850A>C	ENST00000263253.7	+	31	8354	c.7135A>C	c.(7135-7137)Aat>Cat	p.N2379H	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2379					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GCTTGCTAGCAATCCAGGCAT	0.537			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				43	51					0	0	0	0	C	41574850	A	C	41574850	3	2	3	1	0	0	0	0	1	0	0	0	5186	130	5	5	7257	5	EP300	22	41574850	Missense_Mutation	SNP	A	TCGA-BA-4076-01A-01D-1434-08	227418	41574850	9729716	368	744											
ASMT	438	broad.mit.edu	37	chrX	1748783	1748783	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgtcaacgggagaagcgtGctgaccgcctttgacctgtc	8	8	13	12	4	1	3	1	2	0	1	2	4	1	3	3	1	4	1	3	1	2	1			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:1748783G>A	ENST00000381241.3	+	5	712	c.513G>A	c.(511-513)gtG>gtA	p.V171V	RP13-297E16.3_ENST00000509780.1_RNA|ASMT_ENST00000381229.4_Silent_p.V171V|ASMT_ENST00000381233.3_Silent_p.V171V	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	171					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGAAGCGTGCTGACCGCCT	0.552													110	156					0	0	0	0	A	1748783	G	A	1748783	2	1	3	1	0	0	0	0	0	0	0	1	1049	1306	46	4		4	ASMT	23	1748783	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08		1748783	153521777	369	745											
FRMPD4	9758	broad.mit.edu	37	chrX	12736646	12736646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcagtgcctgtgccacacCcgtggagtcgccgctctgcc	4	8	13	16	3	1	0	0	0	1	0	2	1	1	1	5	2	3	2	5	2	0	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:12736646C>T	ENST00000380682.1	+	16	4207	c.3701C>T	c.(3700-3702)cCc>cTc	p.P1234L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1234					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGTGCCACACCCGTGGAGTCG	0.597													92	23					0	0	0	0	T	12736646	C	T	12736646	3	4	3	1	0	0	0	0	1	0	0	0	6107	623	22	4	3763	4	FRMPD4	23	12736646	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	10987863	12736646	142533914	370	746											
SCML2	10389	broad.mit.edu	37	chrX	18338540	18338540	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggatgtattcatctggtacCctgttttataaaataaatta	14	16	6	5	0	2	0	1	0	1	0	2	1	2	1	1	2	1	3	1	2	8	8			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:18338540C>G	ENST00000251900.4	-	6	557	c.397_splice	c.e6-1	p.G133_splice		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	133					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CATCTGGTACCCTGTTTTATA	0.353													56	10					0	0	0	0	G	18338540	C	G	18338540	5	3	3	1	0	0	0	0	0	0	1	0	13997	637	22	4	1744	4	SCML2	23	18338540	Splice_Site	SNP	C	TCGA-BA-4076-01A-01D-1434-08	5601894	18338540	136932020	371	747											
FAM47B	170062	broad.mit.edu	37	chrX	34962248	34962248	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaagaccggagcgtccCatctaaaagaactgtttcag	13	8	8	12	2	2	2	1	0	1	2	3	3	3	3	3	1	3	1	3	1	5	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:34962248C>A	ENST00000329357.5	+	1	1336	c.1300C>A	c.(1300-1302)Cat>Aat	p.H434N		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	434										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CGGAGCGTCCCATCTAAAAGA	0.517													44	14					8.20599e-20	9.89794e-20	1	0	A	34962248	C	A	34962248	3	1	3	1	0	0	0	0	1	0	0	0	5617	594	21	4	1302	4	FAM47B	23	34962248	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	16623708	34962248	120308312	372	748											
DGKK	139189	broad.mit.edu	37	chrX	50121610	50121610	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgatgcaggttgatgataCgggacattgccatctgcaca	11	10	12	8	1	1	3	0	3	1	0	1	5	1	4	1	2	4	3	1	2	1	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:50121610C>T	ENST00000376025.2	-	0	3001							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTTGATGATACGGGACATTGC	0.542													10	5					0	0	0	0	T	50121610	C	T	50121610	1	4	3	0	1	0	0	0	0	0	0	0	4509	536	19	1		1	DGKK	23	50121610	RNA	SNP	C	TCGA-BA-4076-01A-01D-1434-08	15159362	50121610	105148950	373	749											
DGKK	139189	broad.mit.edu	37	chrX	50127734	50127734	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacggcgtcgtgggcttgtCtggttaatatcttctgggtc	4	16	13	8	3	3	0	0	0	3	0	5	0	3	0	0	4	1	2	0	4	3	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:50127734C>G	ENST00000376025.2	-	0	2495							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTGGGCTTGTCTGGTTAATAT	0.388													113	25					0	0	0	0	G	50127734	C	G	50127734	1	3	3	0	1	0	0	0	0	0	0	0	4509	912	32	2		2	DGKK	23	50127734	RNA	SNP	C	TCGA-BA-4076-01A-01D-1434-08	6124	50127734	105142826	374	750											
ATP7A	538	broad.mit.edu	37	chrX	77294477	77294477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtattagtagcagttGatggtaaggttttccataag	10	15	11	5	0	0	1	0	1	0	0	1	1	1	1	1	2	2	7	1	2	5	8			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:77294477G>T	ENST00000341514.6	+	18	3810	c.3655G>T	c.(3655-3657)Gat>Tat	p.D1219Y	ATP7A_ENST00000350425.4_Missense_Mutation_p.D222Y|ATP7A_ENST00000343533.5_Missense_Mutation_p.D1141Y	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1219					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGTAGCAGTTGATGGTAAGGT	0.323													62	18					2.34445e-45	3.40746e-45	1	0	T	77294477	G	T	77294477	3	4	3	1	0	0	0	0	1	0	0	0	1194	1290	45	2	3721	2	ATP7A	23	77294477	Missense_Mutation	SNP	G	TCGA-BA-4076-01A-01D-1434-08	27166743	77294477	77976083	375	751											
POU3F4	5456	broad.mit.edu	37	chrX	82763828	82763828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagagcctgcacccggtgCtccgagagcccccggatcac	8	4	11	18	3	1	2	1	0	0	2	2	4	2	3	5	2	4	2	5	2	0	0			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:82763828C>A	ENST00000373200.2	+	1	560	c.496C>A	c.(496-498)Ctc>Atc	p.L166I	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	166					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCACCCGGTGCTCCGAGAGCC	0.647													6	1					0.00307968	0.00315381	1	0	A	82763828	C	A	82763828	3	1	3	1	0	0	0	0	1	0	0	0	12348	797	28	4	498	4	POU3F4	23	82763828	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	5469351	82763828	72506732	376	752											
GPRASP2	114928	broad.mit.edu	37	chrX	101970808	101970808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgagttctataagcaGtcctgggttttgcctggaga	10	12	13	6	0	1	3	0	1	1	2	2	5	2	3	2	2	2	3	2	2	3	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:101970808G>A	ENST00000543253.1	+	5	1930	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	GPRASP2_ENST00000332262.5_Silent_p.Q337Q|GPRASP2_ENST00000535209.1_Silent_p.Q337Q	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TCTATAAGCAGTCCTGGGTTT	0.458													71	19					0	0	0	0	A	101970808	G	A	101970808	2	1	3	1	0	0	0	0	0	0	0	1	6773	1020	36	4		4	GPRASP2	23	101970808	Silent	SNP	G	TCGA-BA-4076-01A-01D-1434-08	19206980	101970808	53299752	377	753											
COL4A5	1287	broad.mit.edu	37	chrX	107930715	107930715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttatttcgtggaaataggtaCccgtggtttggatggtcccc	7	14	12	8	2	0	0	0	0	0	0	2	2	1	2	3	5	1	2	3	5	4	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:107930715C>T	ENST00000328300.6	+	49	4563	c.4319C>T	c.(4318-4320)aCc>aTc	p.T1440I	COL4A5_ENST00000361603.2_Missense_Mutation_p.T1434I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1434	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAAATAGGTACCCGTGGTTTG	0.443									Alport syndrome with Diffuse Leiomyomatosis				99	25					0	0	0	0	T	107930715	C	T	107930715	3	4	3	1	0	0	0	0	1	0	0	0	3724	507	18	4	4498	4	COL4A5	23	107930715	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	5959907	107930715	47339845	378	754											
CD40LG	959	broad.mit.edu	37	chrX	135741549	135741549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccatggcactggcttcaCgtcctttggcttactcaaac	8	11	9	13	1	2	0	2	0	0	0	3	1	3	0	2	3	3	3	2	3	2	3			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:135741549C>A	ENST00000370629.2	+	5	817	c.761C>A	c.(760-762)aCg>aAg	p.T254K	CD40LG_ENST00000370628.2_Missense_Mutation_p.T233K	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	254			T -> M (in HIGM1).		anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	ACTGGCTTCACGTCCTTTGGC	0.507									Immune Deficiency with Hyper-IgM				66	15					9.4991e-31	1.26655e-30	1	0	A	135741549	C	A	135741549	3	1	3	1	0	0	0	0	1	0	0	0	3045	536	19	3	779	3	CD40LG	23	135741549	Missense_Mutation	SNP	C	TCGA-BA-4076-01A-01D-1434-08	27810834	135741549	19529011	379	755											
MAGEC1	9947	broad.mit.edu	37	chrX	140993927	140993927	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctcctccactttacTgagtcttttccagagtttct	5	17	4	15	0	2	2	0	1	2	1	7	2	7	2	5	0	1	1	5	0	1	5			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:140993927T>A	ENST00000285879.4	+	4	1023	c.737T>A	c.(736-738)cTg>cAg	p.L246Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	246							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTTTACTGAGTCTTTTC	0.498										HNSCC(15;0.026)			207	38					0	0	0	0	A	140993927	T	A	140993927	3	1	3	1	0	0	0	0	1	0	0	0	9249	1580	55	5	743	5	MAGEC1	23	140993927	Missense_Mutation	SNP	T	TCGA-BA-4076-01A-01D-1434-08	5252378	140993927	14276633	380	756											
NOC2L	26155	broad.mit.edu	37	chr1	892498	892498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctccagcacatctggcaggGagtggaacggcccctcttcc	7	7	11	16	1	2	0	0	0	2	0	4	2	4	2	5	4	2	2	5	4	1	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:892498G>A	ENST00000327044.6	-	3	384	c.335C>T	c.(334-336)tCc>tTc	p.S112F	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	112						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		ATCTGGCAGGGAGTGGAACGG	0.582													66	389					0	0	0	0	A	892498	G	A	892498	3	1	4	1	0	0	0	0	1	0	0	0	10583	1174	41	2	1982	2	NOC2L	1	892498	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08		892498	248358123	1	757											
ARHGEF16	27237	broad.mit.edu	37	chr1	3394440	3394440	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccggctctgtccccccagtCcctcccactgatctctgcct	3	10	6	22	1	2	1	0	1	2	0	6	1	5	1	7	1	1	1	7	1	0	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:3394440C>G	ENST00000378378.4	+	11	1880	c.1473_splice	c.e11-1	p.S492_splice	ARHGEF16_ENST00000378373.1_Splice_Site_p.S204_splice|ARHGEF16_ENST00000413250.2_Splice_Site_p.S196_splice|ARHGEF16_ENST00000378371.2_Splice_Site_p.S204_splice	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	492					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCCCCCCAGTCCCTCCCACTG	0.637													15	79					0	0	0	0	G	3394440	C	G	3394440	5	3	4	1	0	0	0	0	0	0	1	0	901	869	30	2	1513	2	ARHGEF16	1	3394440	Splice_Site	SNP	C	TCGA-BA-4077-01B-01D-1434-08	2501942	3394440	245856181	2	758											
AJAP1	55966	broad.mit.edu	37	chr1	4772109	4772109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcggtcgccgccccggcCgccccggctgtggagtttta	2	7	15	17	7	0	0	0	0	0	0	1	1	0	1	7	4	0	2	7	4	1	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:4772109C>T	ENST00000378191.4	+	2	560	c.179C>T	c.(178-180)cCg>cTg	p.P60L	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.P60L	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	60					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.P60L(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ccgccccggccgccccggcTG	0.731													25	75					0	0	0	0	T	4772109	C	T	4772109	3	4	4	1	0	0	0	0	1	0	0	0	438	652	23	1	185	1	AJAP1	1	4772109	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1377669	4772109	244478512	3	759											
EPHA2	1969	broad.mit.edu	37	chr1	16458218	16458218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagggcaagggcacccacctCgtggttggacaactcccagt	9	6	13	13	1	0	0	0	0	0	0	2	2	1	1	3	4	1	3	3	4	2	1	rs2291806		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:16458218C>T	ENST00000358432.5	-	14	2627	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	825	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	p.E825*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GCACCCACCTCGTGGTTGGAC	0.587													11	87					0	0	0	0	T	16458218	C	T	16458218	3	4	4	1	0	0	0	0	1	0	0	0	5205	893	31	1	473	1	EPHA2	1	16458218	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	11686109	16458218	232792403	4	760											
HSPG2	3339	broad.mit.edu	37	chr1	22158995	22158995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggggtctcaccggaactCgggccttccccccacgaggc	5	6	13	17	3	1	0	1	0	1	0	4	2	2	1	5	5	1	0	5	5	1	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:22158995C>T	ENST00000374695.3	-	81	11279	c.11200G>A	c.(11200-11202)Gag>Aag	p.E3734K		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3734	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CACCGGAACTCGGGCCTTCCC	0.632													16	103					0	0	0	0	T	22158995	C	T	22158995	3	4	4	1	0	0	0	0	1	0	0	0	7483	893	31	1	2043	1	HSPG2	1	22158995	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	5700777	22158995	227091626	5	761											
MYOM3	127294	broad.mit.edu	37	chr1	24432564	24432564	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctcctggaccttctcctCtgtctggaggcgggaagagg	5	9	15	12	1	3	1	0	0	3	1	5	4	4	4	4	6	0	0	4	6	1	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:24432564C>G	ENST00000330966.7	-	5	571	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	MYOM3_ENST00000374434.3_Missense_Mutation_p.E136Q|MYOM3_ENST00000329601.7_Missense_Mutation_p.E136Q|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	136										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACCTTCTCCTCTGTCTGGAGG	0.617													7	36					0	0	0	0	G	24432564	C	G	24432564	3	3	4	1	0	0	0	0	1	0	0	0	10163	922	32	2	4039	2	MYOM3	1	24432564	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	2273569	24432564	224818057	6	762											
UBXN11	91544	broad.mit.edu	37	chr1	26620764	26620764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagactgtcttgctctctGagtcctcctggtccatgggc	4	13	11	13	0	2	2	0	2	2	1	6	3	5	2	3	2	1	1	3	2	0	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:26620764G>A	ENST00000374222.1	-	9	955	c.491C>T	c.(490-492)tCa>tTa	p.S164L	UBXN11_ENST00000374217.2_Missense_Mutation_p.S131L|UBXN11_ENST00000357089.4_Missense_Mutation_p.S131L|UBXN11_ENST00000535108.1_Missense_Mutation_p.S6L|UBXN11_ENST00000436301.2_Missense_Mutation_p.S89L|UBXN11_ENST00000374221.3_Missense_Mutation_p.S164L|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374223.1_Intron			Q5T124	UBX11_HUMAN	UBX domain protein 11	164						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTTGCTCTCTGAGTCCTCCTG	0.617													55	96					0	0	0	0	A	26620764	G	A	26620764	3	1	4	1	0	0	0	0	1	0	0	0	17009	1294	45	2	1103	2	UBXN11	1	26620764	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2188200	26620764	222629857	7	763											
AIM1L	55057	broad.mit.edu	37	chr1	26648788	26648788	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgggctagggggtccaatCacctgtaggctcatggtggg	6	9	16	10	0	2	0	2	0	0	0	3	0	3	0	3	6	0	3	3	6	3	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:26648788C>G	ENST00000527815.1	-	18	2191	c.2142G>C	c.(2140-2142)gtG>gtC	p.V714V	AIM1L_ENST00000308182.5_Silent_p.V543V	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	543							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GGGGTCCAATCACCTGTAGGC	0.632													7	98					0	0	0	0	G	26648788	C	G	26648788	2	3	4	1	0	0	0	0	0	0	0	1	431	813	29	2		2	AIM1L	1	26648788	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	28024	26648788	222601833	8	764											
ARID1A	8289	broad.mit.edu	37	chr1	27106087	27106087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaggaggggcccccacctGatggacctccagaaaaacgg	12	3	12	14	1	0	2	0	1	0	1	1	4	1	4	6	5	1	0	6	5	2	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:27106087G>C	ENST00000324856.7	+	20	6069	c.5698G>C	c.(5698-5700)Gat>Cat	p.D1900H	ARID1A_ENST00000540690.1_Missense_Mutation_p.D228H|ARID1A_ENST00000374152.2_Missense_Mutation_p.D1517H|ARID1A_ENST00000457599.2_Missense_Mutation_p.D1683H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1900					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.D1900N(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCCCCACCTGATGGACCTCC	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								6	88					0	0	0	0	C	27106087	G	C	27106087	3	2	4	1	0	0	0	0	1	0	0	0	915	1290	45	2	5776	2	ARID1A	1	27106087	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	457299	27106087	222144534	9	765											
SFN	2810	broad.mit.edu	37	chr1	27189782	27189782	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacatggcagccttcatgAaaggcgccgtggagaagggc	11	5	16	9	2	1	2	1	1	0	1	1	4	1	3	2	5	1	1	2	5	2	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:27189782A>G	ENST00000339276.4	+	1	150	c.79A>G	c.(79-81)Aaa>Gaa	p.K27E		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	27					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGCCTTCATGAAAGGCGCCGT	0.617													31	68					0	0	0	0	G	27189782	A	G	27189782	3	3	4	1	0	0	0	0	1	0	0	0	14246	247	9	5	81	5	SFN	1	27189782	Missense_Mutation	SNP	A	TCGA-BA-4077-01B-01D-1434-08	83695	27189782	222060839	10	766											
SFN	2810	broad.mit.edu	37	chr1	27190331	27190331	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatctgcacaccctcagcGaggactcctacaaagacagc	12	6	8	15	1	2	2	1	1	1	1	3	4	3	3	2	1	4	1	2	1	2	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:27190331G>T	ENST00000339276.4	+	1	699	c.628G>T	c.(628-630)Gag>Tag	p.E210*		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	210					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CACCCTCAGCGAGGACTCCTA	0.617													50	114					3.86236e-30	4.32545e-30	1	0	T	27190331	G	T	27190331	4	4	4	1	0	0	0	0	0	1	0	0	14246	1059	37	3	630	3	SFN	1	27190331	Nonsense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	549	27190331	222060290	11	767											
COL16A1	1307	broad.mit.edu	37	chr1	32160810	32160810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcccgggcaccatggaCacagggcggacactgaaagg	10	4	15	12	2	0	1	0	1	0	0	1	3	1	3	2	5	0	2	2	5	1	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:32160810C>A	ENST00000373672.3	-	11	1474	c.958G>T	c.(958-960)Gtc>Ttc	p.V320F	COL16A1_ENST00000373668.3_Missense_Mutation_p.V320F|COL16A1_ENST00000271069.6_Missense_Mutation_p.V320F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	320	Nonhelical region 10 (NC10).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCACCATGGACACAGGGCGGA	0.627													12	46					3.07112e-06	3.18728e-06	1	0	A	32160810	C	A	32160810	3	1	4	1	0	0	0	0	1	0	0	0	3703	478	17	4	4100	4	COL16A1	1	32160810	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	4970479	32160810	217089811	12	768											
MFSD2A	84879	broad.mit.edu	37	chr1	40422867	40422867	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgccctgggtttcttccttCagatctacctattggatgtg	5	16	10	10	0	3	1	1	0	2	1	4	2	4	2	3	2	2	1	3	2	2	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:40422867C>T	ENST00000372809.5	+	2	345	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	MFSD2A_ENST00000372811.5_Nonsense_Mutation_p.Q68*|MFSD2A_ENST00000420632.2_Intron	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	68					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTTCTTCCTTCAGATCTACCT	0.527													150	284					0	0	0	0	T	40422867	C	T	40422867	4	4	4	1	0	0	0	0	0	1	0	0	9599	827	29	2	208	2	MFSD2A	1	40422867	Nonsense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	8262057	40422867	208827754	13	769											
CCDC30	728621	broad.mit.edu	37	chr1	43021987	43021987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaagcctgaggaaattGtgaggcttagagaagagctg	13	8	14	6	0	0	5	0	3	0	2	0	7	0	6	2	2	2	2	2	2	4	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:43021987G>T	ENST00000428554.2	+	12	1729	c.586G>T	c.(586-588)Gtg>Ttg	p.V196L	CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.V196L|CCDC30_ENST00000340612.4_Missense_Mutation_p.V196L|CCDC30_ENST00000507855.1_Intron			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	196										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TGAGGAAATTGTGAGGCTTAG	0.463													15	37					1.49906e-05	1.54844e-05	1	0	T	43021987	G	T	43021987	3	4	4	1	0	0	0	0	1	0	0	0	2831	1377	48	4	600	4	CCDC30	1	43021987	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2599120	43021987	206228634	14	770											
ERI3	79033	broad.mit.edu	37	chr1	44820585	44820585	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccggggtgttgcccccaactCgggcccatccaagtccaggg	6	6	13	16	2	0	0	0	0	0	0	3	0	2	0	6	4	2	1	6	4	2	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:44820585C>G	ENST00000372257.2	-	1	295	c.114G>C	c.(112-114)ccG>ccC	p.P38P	ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	38						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCCCCAACTCGGGCCCATCC	0.697													4	42					0	0	0	0	G	44820585	C	G	44820585	2	3	4	1	0	0	0	0	0	0	0	1	5267	871	31	3		3	ERI3	1	44820585	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1798598	44820585	204430036	15	771											
PTCH2	8643	broad.mit.edu	37	chr1	45296710	45296710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccactggatatccgggCggccgctgagggaaaagcct	8	7	15	11	3	0	1	0	1	0	0	2	3	2	3	4	5	1	1	4	5	3	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:45296710C>T	ENST00000447098.2	-	6	634	c.623G>A	c.(622-624)cGc>cAc	p.R208H	PTCH2_ENST00000372192.3_Missense_Mutation_p.R208H	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	208					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GATATCCGGGCGGCCGCTGAG	0.612									Basal Cell Nevus syndrome				19	28					0	0	0	0	T	45296710	C	T	45296710	3	4	4	1	0	0	0	0	1	0	0	0	12810	768	27	1	3076	1	PTCH2	1	45296710	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	476125	45296710	203953911	16	772											
YIPF1	54432	broad.mit.edu	37	chr1	54332512	54332512	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggagacgatgttcataacTttgctgtttctccacatgag	10	14	9	8	1	2	2	1	1	1	1	3	4	2	2	1	1	2	3	1	1	2	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:54332512T>C	ENST00000072644.1	-	8	903	c.567A>G	c.(565-567)aaA>aaG	p.K189K	YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_Silent_p.K6K|YIPF1_ENST00000539954.1_Silent_p.K214K	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	189						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TGTTCATAACTTTGCTGTTTC	0.458													8	82					0	0	0	0	C	54332512	T	C	54332512	2	2	4	1	0	0	0	0	0	0	0	1	17573	1606	56	5		5	YIPF1	1	54332512	Silent	SNP	T	TCGA-BA-4077-01B-01D-1434-08	9035802	54332512	194918109	17	773											
HOOK1	51361	broad.mit.edu	37	chr1	60331554	60331554	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactaatagtacaaaagatCaatgaacttgaagctgctct	16	12	6	7	0	2	3	1	2	1	1	2	3	2	3	0	0	5	3	0	0	9	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:60331554C>T	ENST00000371208.3	+	19	2012	c.1755C>T	c.(1753-1755)atC>atT	p.I585I	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Silent_p.I543I	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	585					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TACAAAAGATCAATGAACTTG	0.274													31	50					0	0	0	0	T	60331554	C	T	60331554	2	4	4	1	0	0	0	0	0	0	0	1	7332	816	29	2		2	HOOK1	1	60331554	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	5999042	60331554	188919067	18	774											
SERBP1	26135	broad.mit.edu	37	chr1	67889986	67889986	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attataagatatttgtttctGaatgtatttgggggactctc	10	18	9	4	0	2	2	0	1	2	1	3	3	2	3	0	2	0	2	0	2	5	7			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:67889986G>A	ENST00000370995.2	-	5	800	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	SERBP1_ENST00000370994.4_Intron|SERBP1_ENST00000484880.1_Intron|SERBP1_ENST00000370990.5_Nonsense_Mutation_p.Q233*|SERBP1_ENST00000361219.6_Intron			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	239					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						ATTTGTTTCTGAATGTATTTG	0.363													10	117					0	0	0	0	A	67889986	G	A	67889986	4	1	4	1	0	0	0	0	0	1	0	0	14162	1299	45	2	527	2	SERBP1	1	67889986	Nonsense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	7558432	67889986	181360635	19	775											
RBMXL1	494115	broad.mit.edu	37	chr1	89448482	89448482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggaagccctctttcttgtCtgccaaccctgtcacaactt	7	12	8	14	0	4	0	1	0	3	0	4	1	4	1	3	2	4	0	3	2	3	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:89448482C>G	ENST00000399794.2	-	3	1743	c.1028G>C	c.(1027-1029)aGa>aCa	p.R343T	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.R343T	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	343	Ser-rich.						nucleotide binding|RNA binding										TCTTTCTTGTCTGCCAACCCT	0.512													75	245					0	0	0	0	G	89448482	C	G	89448482	3	3	4	1	0	0	0	0	1	0	0	0	13235	913	32	2	148	2	RBMXL1	1	89448482	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	21558496	89448482	159802139	20	776											
FNDC7	163479	broad.mit.edu	37	chr1	109275982	109275990	+	In_Frame_Del	DEL	TTACAGCAC	TTACAGCAC	-																															gcctccaggggctctgccaaTtacagcactgacctctatgg																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:109275982_109275990delTTACAGCAC	ENST00000370017.3	+	10	2245_2253	c.1968_1976delTTACAGCAC	c.(1966-1977)aat>aa	p.NYST656del	FNDC7_ENST00000271311.2_In_Frame_Del_p.NYST657del	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	657	Fibronectin type-III 8.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GCTCTGCCAATTACAGCACTGACCTCTAT	0.531													45	165	---	---	---	---					-	109275990	TTACAGCAC	-	109275982	7	5	4	1	0	1	0	1	0	0	0	0	6018	1490	52	0	2006	0	FNDC7	1	109275982	In_Frame_Del	DEL	TTACAGCAC	TCGA-BA-4077-01B-01D-1434-08	19827500	109275982	139974639	21	777											
WDR77	79084	broad.mit.edu	37	chr1	111989744	111989744	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaactcagtaccacctgctGagcaaggtcccaaaccttga	12	8	8	13	0	1	3	1	3	0	0	2	3	2	3	4	1	5	3	4	1	4	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:111989744G>A	ENST00000235090.5	-	4	672	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	WDR77_ENST00000411751.2_Intron|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	156					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACCACCTGCTGAGCAAGGTCC	0.388													31	116					0	0	0	0	A	111989744	G	A	111989744	4	1	4	1	0	0	0	0	0	1	0	0	17423	1299	45	2	590	2	WDR77	1	111989744	Nonsense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2713762	111989744	137260877	22	778											
CAPZA1	829	broad.mit.edu	37	chr1	113212164	113212164	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttccttccttcattaGaatgaagcccaaactgccaa	11	12	4	14	0	2	2	1	1	1	1	4	2	4	2	5	0	3	0	5	0	5	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:113212164G>T	ENST00000263168.3	+	9	1329		c.e9-1		CAPZA1_ENST00000476936.1_Splice_Site	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1						actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTTCATTAGAATGAAGCCC	0.323													15	68					1.52009e-12	1.62761e-12	1	0	T	113212164	G	T	113212164	5	4	4	1	0	0	0	0	0	0	1	0	2665	956	33	2	691	2	CAPZA1	1	113212164	Splice_Site	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1222420	113212164	136038457	23	779											
FLG	2312	broad.mit.edu	37	chr1	152278805	152278805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgacgcgaccctgagtGcctggagccgtctcctgatt	6	10	13	12	3	1	3	0	3	1	0	2	5	1	4	4	2	2	0	4	2	0	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:152278805G>T	ENST00000368799.1	-	3	8592	c.8557C>A	c.(8557-8559)Cac>Aac	p.H2853N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2853	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCTGAGTGCCTGGAGCCG	0.572									Ichthyosis				241	1212					3.38734e-80	3.84249e-80	1	0	T	152278805	G	T	152278805	3	4	4	1	0	0	0	0	1	0	0	0	5967	1319	46	4	3632	4	FLG	1	152278805	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	39066641	152278805	96971816	24	780											
NUP210L	91181	broad.mit.edu	37	chr1	153984740	153984740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttaagattgacaccatttCtgccagtggtgatgaagagc	11	12	10	8	0	1	5	0	3	1	2	1	5	1	5	2	1	2	0	2	1	2	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:153984740C>T	ENST00000368559.3	-	34	4831	c.4760G>A	c.(4759-4761)aGa>aAa	p.R1587K	NUP210L_ENST00000368553.1_Missense_Mutation_p.R520K|NUP210L_ENST00000271854.3_Missense_Mutation_p.R1587K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1587						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GACACCATTTCTGCCAGTGGT	0.383													14	172					0	0	0	0	T	153984740	C	T	153984740	3	4	4	1	0	0	0	0	1	0	0	0	10832	913	32	2	934	2	NUP210L	1	153984740	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1705935	153984740	95265881	25	781											
EFNA4	1945	broad.mit.edu	37	chr1	155039242	155039242	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgtggtggagctgggcctCaacgattacctagacattgt	8	10	13	10	2	1	1	1	0	0	1	1	3	1	2	3	3	3	1	3	3	3	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:155039242C>G	ENST00000368409.3	+	2	243	c.150C>G	c.(148-150)ctC>ctG	p.L50L	EFNA4_ENST00000427683.2_Silent_p.L50L|EFNA3_ENST00000556931.1_Intron|EFNA3_ENST00000505139.1_Intron|EFNA4_ENST00000359751.4_Silent_p.L50L	NM_005227.2	NP_005218.1			ephrin-A4											breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGCTGGGCCTCAACGATTACC	0.627													25	48					0	0	0	0	G	155039242	C	G	155039242	2	3	4	1	0	0	0	0	0	0	0	1	4989	813	29	2		2	EFNA4	1	155039242	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1054502	155039242	94211379	26	782											
THBS3	7059	broad.mit.edu	37	chr1	155167907	155167907	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgacggtctgataggcccGaaaatccgtaagcgttacct	11	8	11	11	5	1	1	0	1	1	0	2	4	2	1	3	2	2	2	3	2	5	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:155167907G>T	ENST00000368378.3	-	18	2199	c.2179C>A	c.(2179-2181)Cgg>Agg	p.R727R	THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Silent_p.R607R|THBS3_ENST00000541576.1_Silent_p.R124R|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541990.1_Silent_p.R256R|THBS3_ENST00000428962.2_3'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	727	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGATAGGCCCGAAAATCCGTA	0.552													3	95					0.115264	0.116057	1	0	T	155167907	G	T	155167907	2	4	4	1	0	0	0	0	0	0	0	1	15949	1057	37	3		3	THBS3	1	155167907	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	128665	155167907	94082714	27	783											
FDPS	2224	broad.mit.edu	37	chr1	155279994	155279994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgctattgcccggctcaagGaggtgagggattcatgactt	9	11	13	8	1	2	2	2	2	0	0	2	4	2	4	1	4	2	2	1	4	2	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:155279994G>A	ENST00000356657.6	+	3	499	c.337G>A	c.(337-339)Gag>Aag	p.E113K	RP11-21N7.2_ENST00000429648.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.E47K|FDPS_ENST00000487002.1_3'UTR|FDPS_ENST00000368356.4_Missense_Mutation_p.E113K	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	113					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CCGGCTCAAGGAGGTGAGGGA	0.517													9	67					0	0	0	0	A	155279994	G	A	155279994	3	1	4	1	0	0	0	0	1	0	0	0	5848	1175	41	2	343	2	FDPS	1	155279994	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	112087	155279994	93970627	28	784											
SYT11	23208	broad.mit.edu	37	chr1	155838359	155838359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggcatcgggtgaagaccaGagtgctgcggaagaccctgg	10	5	16	10	3	0	4	0	1	0	3	1	5	0	5	2	4	2	2	2	4	2	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:155838359G>A	ENST00000368324.4	+	2	891	c.638G>A	c.(637-639)aGa>aAa	p.R213K	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	213	C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.R213T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTGAAGACCAGAGTGCTGCGG	0.572													5	144					0	0	0	0	A	155838359	G	A	155838359	3	1	4	1	0	0	0	0	1	0	0	0	15558	942	33	2	644	2	SYT11	1	155838359	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	558365	155838359	93412262	29	785											
SELL	6402	broad.mit.edu	37	chr1	169672451	169672451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgattcacaaatggttttCttcttcccaattaactcagt	11	16	5	9	0	4	1	2	1	2	0	5	2	5	1	1	1	1	1	1	1	3	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:169672451C>T	ENST00000236147.4	-	6	1096	c.936G>A	c.(934-936)aaG>aaA	p.K312K	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	299	Sushi 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	p.K299N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AAATGGTTTTCTTCTTCCCAA	0.423													3	51					0	0	0	0	T	169672451	C	T	169672451	2	4	4	1	0	0	0	0	0	0	0	1	14103	912	32	2		2	SELL	1	169672451	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	13834092	169672451	79578170	30	786											
SMG7	9887	broad.mit.edu	37	chr1	183511286	183511286	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattaatactggaagacccCagtgaagccaaagagaacct	17	6	9	9	0	0	3	0	1	0	2	0	6	0	4	4	1	3	0	4	1	7	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:183511286C>T	ENST00000367537.3	+	15	1773	c.1578C>T	c.(1576-1578)ccC>ccT	p.P526P	SMG7_ENST00000456731.2_Silent_p.P455P|SMG7_ENST00000508461.1_Silent_p.P455P|SMG7_ENST00000515829.2_Silent_p.P497P|SMG7_ENST00000507469.1_Silent_p.P497P|SMG7_ENST00000347615.2_Silent_p.P497P			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	497					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TGGAAGACCCCAGTGAAGCCA	0.418													107	200					0	0	0	0	T	183511286	C	T	183511286	2	4	4	1	0	0	0	0	0	0	0	1	14886	581	21	4		4	SMG7	1	183511286	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	13838835	183511286	65739335	31	787											
KDM5B	10765	broad.mit.edu	37	chr1	202742383	202742383	+	Frame_Shift_Del	DEL	A	A	-																															ggtccattttctatccttgcAaacaactgcaaatccacctt																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:202742383delA	ENST00000367265.3	-	4	1603	c.439delT	c.(439-441)gcfs	p.C147fs	KDM5B_ENST00000367264.2_Frame_Shift_Del_p.C147fs	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	147	ARID.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTATCCTTGCAAACAACTGCA	0.388													41	87	---	---	---	---					-	202742383	A	-	202742383	7	5	4	1	0	1	0	1	0	0	0	0	8186	130	5	0	4291	0	KDM5B	1	202742383	Frame_Shift_Del	DEL	A	TCGA-BA-4077-01B-01D-1434-08	19231097	202742383	46508238	32	788											
USH2A	7399	broad.mit.edu	37	chr1	215848781	215848781	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggacagtaggagccagctGagagtctggaggggcttcat	9	8	17	7	0	2	1	1	1	1	1	2	5	2	4	1	5	2	3	1	5	1	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:215848781G>A	ENST00000366943.2	-	63	12858	c.12472C>T	c.(12472-12474)Cag>Tag	p.Q4158*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q4158*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4158	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAGCCAGCTGAGAGTCTGGA	0.532										HNSCC(13;0.011)			6	70					0	0	0	0	A	215848781	G	A	215848781	4	1	4	1	0	0	0	0	0	1	0	0	17132	1299	45	2	3176	2	USH2A	1	215848781	Nonsense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	13106398	215848781	33401840	33	789											
MIA3	375056	broad.mit.edu	37	chr1	222801826	222801826	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgatgatgcattagtcccaGatagcaaacaggggaaacca	16	7	10	8	0	0	3	0	2	0	1	1	4	1	4	2	2	4	2	2	2	4	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:222801826G>C	ENST00000344922.5	+	4	1289	c.1264G>C	c.(1264-1266)Gat>Cat	p.D422H	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.D422H|MIA3_ENST00000344507.1_Missense_Mutation_p.D422H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	422					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATTAGTCCCAGATAGCAAACA	0.383													16	144					0	0	0	0	C	222801826	G	C	222801826	3	2	4	1	0	0	0	0	1	0	0	0	9634	942	33	2	1278	2	MIA3	1	222801826	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	6953045	222801826	26448795	34	790											
GALNT2	2590	broad.mit.edu	37	chr1	230338990	230338990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttcaaccaggtggagagtGataagcttcgaatggacaga	14	8	13	6	1	1	3	1	1	0	2	2	6	1	4	1	3	2	2	1	3	3	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:230338990G>A	ENST00000366672.4	+	3	400	c.328G>A	c.(328-330)Gat>Aat	p.D110N	GALNT2_ENST00000543760.1_Missense_Mutation_p.D72N|GALNT2_ENST00000541865.1_Missense_Mutation_p.D20N	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	110					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGTGGAGAGTGATAAGCTTCG	0.547													32	152					0	0	0	0	A	230338990	G	A	230338990	3	1	4	1	0	0	0	0	1	0	0	0	6262	1290	45	2	338	2	GALNT2	1	230338990	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	7537164	230338990	18911631	35	791											
KCNF1	3754	broad.mit.edu	37	chr2	11053214	11053214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccgcgtggagcacccgaCgctggagaacgtggagacgg	10	3	16	12	6	0	2	0	0	0	2	0	6	0	3	2	4	3	2	2	4	2	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:11053214C>T	ENST00000295082.1	+	1	1152	c.662C>T	c.(661-663)aCg>aTg	p.T221M		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	221						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GAGCACCCGACGCTGGAGAAC	0.637													16	36					0	0	0	0	T	11053214	C	T	11053214	3	4	4	1	0	0	0	0	1	0	0	0	8079	536	19	1	664	1	KCNF1	2	11053214	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08		11053214	232146159	36	792											
CENPO	79172	broad.mit.edu	37	chr2	25039552	25039552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgactgggcccttgcagaGaaacccactgtgtaacttgc	9	9	10	13	0	0	2	0	1	0	1	0	3	0	2	3	1	4	2	3	1	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:25039552G>C	ENST00000380834.2	+	6	1057	c.632G>C	c.(631-633)aGa>aCa	p.R211T	CENPO_ENST00000395845.2_Intron|CENPO_ENST00000260662.1_Missense_Mutation_p.R211T|CENPO_ENST00000473706.1_Missense_Mutation_p.R205T			Q9BU64	CENPO_HUMAN	centromere protein O	211					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCTTGCAGAGAAACCCACTG	0.493													267	573					0	0	0	0	C	25039552	G	C	25039552	3	2	4	1	0	0	0	0	1	0	0	0	3268	942	33	2	650	2	CENPO	2	25039552	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	13986338	25039552	218159821	37	793											
GPR113	165082	broad.mit.edu	37	chr2	26534512	26534512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctccctggctgaaggccCggtcacctgccatgatggaa	7	8	11	15	1	2	2	1	2	1	0	3	3	2	3	5	4	1	1	5	4	2	0	rs148160413	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:26534512C>T	ENST00000333478.6	-	8	2069	c.1487G>A	c.(1486-1488)cGg>cAg	p.R496Q	GPR113_ENST00000421160.2_Missense_Mutation_p.R626Q|GPR113_ENST00000311519.1_Missense_Mutation_p.R695Q|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Missense_Mutation_p.R298Q	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	695					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGAAGGCCCGGTCACCTGC	0.577													13	27					0	0	0	0	T	26534512	C	T	26534512	3	4	4	1	0	0	0	0	1	0	0	0	6679	652	23	1	1256	1	GPR113	2	26534512	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1494960	26534512	216664861	38	794											
AGBL5	60509	broad.mit.edu	37	chr2	27278716	27278716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagttcctgtctccctcctGatgctcctgtttctgacctg	3	15	7	16	0	2	2	0	2	2	0	6	2	5	2	6	0	1	3	6	0	0	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:27278716G>A	ENST00000360131.4	+	7	1234	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	AGBL5_ENST00000323064.8_Missense_Mutation_p.D359N	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	359					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCCTCCTGATGCTCCTGT	0.527													25	118					0	0	0	0	A	27278716	G	A	27278716	3	1	4	1	0	0	0	0	1	0	0	0	378	1290	45	2	1097	2	AGBL5	2	27278716	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	744204	27278716	215920657	39	795											
FOSL2	2355	broad.mit.edu	37	chr2	28634820	28634820	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagaggagctggaggaggaGaagtcaggcctgcagaagga	14	3	18	6	0	1	3	1	0	0	3	1	8	1	7	1	6	2	2	1	6	2	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:28634820G>C	ENST00000264716.4	+	4	1349	c.486G>C	c.(484-486)gaG>gaC	p.E162D	FOSL2_ENST00000545753.1_Missense_Mutation_p.E123D|FOSL2_ENST00000379619.1_Missense_Mutation_p.E154D	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	162	Leucine-zipper.				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGGAGGAGGAGAAGTCAGGCC	0.557													4	91					0	0	0	0	C	28634820	G	C	28634820	3	2	4	1	0	0	0	0	1	0	0	0	6033	933	33	2	500	2	FOSL2	2	28634820	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1356104	28634820	214564553	40	796											
LRPPRC	10128	broad.mit.edu	37	chr2	44174430	44174430	+	Frame_Shift_Del	DEL	A	A	-																															gcactaatatgagttgctttAggacatctcttataggttga																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:44174430delA	ENST00000260665.7	-	20	2102	c.2045delT	c.(2044-2046)cafs	p.L682fs		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	682					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GAGTTGCTTTAGGACATCTCT	0.299													26	54	---	---	---	---					-	44174430	A	-	44174430	7	5	4	1	0	1	0	1	0	0	0	0	9029	420	15	0	2215	0	LRPPRC	2	44174430	Frame_Shift_Del	DEL	A	TCGA-BA-4077-01B-01D-1434-08	15539610	44174430	199024943	41	797											
NRXN1	9378	broad.mit.edu	37	chr2	50850564	50850564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccaaattaatgaccagaGagacagctccatttttcagg	14	10	7	10	0	1	3	1	1	0	2	3	4	3	3	3	1	1	1	3	1	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:50850564G>T	ENST00000404971.1	-	7	2460	c.1121C>A	c.(1120-1122)tCt>tAt	p.S374Y	NRXN1_ENST00000402717.3_Missense_Mutation_p.S341Y|NRXN1_ENST00000405472.3_Missense_Mutation_p.S341Y|NRXN1_ENST00000406316.2_Missense_Mutation_p.S341Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.S341Y|NRXN1_ENST00000401669.2_Missense_Mutation_p.S341Y|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	341	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AATGACCAGAGAGACAGCTCC	0.438													30	146					5.8336e-16	6.29226e-16	1	0	T	50850564	G	T	50850564	3	4	4	1	0	0	0	0	1	0	0	0	10736	942	33	2	3857	2	NRXN1	2	50850564	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	6676134	50850564	192348809	42	798											
ELMOD3	84173	broad.mit.edu	37	chr2	85598302	85598302	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccagcgccttcgggaaGaaagggacttggtcctgacc	9	7	12	13	2	0	2	0	1	0	1	3	4	2	4	5	3	1	0	5	3	2	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:85598302G>T	ENST00000315658.7	+	7	713	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	ELMOD3_ENST00000428955.2_Nonsense_Mutation_p.E152*|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Nonsense_Mutation_p.E152*|ELMOD3_ENST00000409344.3_Nonsense_Mutation_p.E152*|ELMOD3_ENST00000409013.3_Nonsense_Mutation_p.E152*|ELMOD3_ENST00000393852.4_Nonsense_Mutation_p.E152*	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	152					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CCTTCGGGAAGAAAGGGACTT	0.587													11	128					0.000978159	0.00100565	1	0	T	85598302	G	T	85598302	4	4	4	1	0	0	0	0	0	1	0	0	5108	943	33	2	476	2	ELMOD3	2	85598302	Nonsense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	34747738	85598302	157601071	43	799											
NXPH2	11249	broad.mit.edu	37	chr2	139429126	139429126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaaacaggcgcaggggaCtgatgatccttgagtgcacc	12	7	12	10	1	0	3	0	3	0	0	1	4	1	4	2	3	3	2	2	3	2	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:139429126C>T	ENST00000272641.3	-	2	267	c.161G>A	c.(160-162)aGt>aAt	p.S54N		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	54	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GCGCAGGGGACTGATGATCCT	0.572													89	179					0	0	0	0	T	139429126	C	T	139429126	3	4	4	1	0	0	0	0	1	0	0	0	10862	565	20	4	637	4	NXPH2	2	139429126	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	53830824	139429126	103770247	44	800											
ARHGAP15	55843	broad.mit.edu	37	chr2	144381721	144381727	+	Frame_Shift_Del	DEL	CGACAGC	CGACAGC	-																															gaagagaagctgaatttggaCgacagccagtgggaggacat																								rs138120208		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:144381721_144381727delCGACAGC	ENST00000295095.6	+	12	1190_1196	c.1023_1029delCGACAGC	c.(1021-1029)gafs	p.DDS341fs		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	341	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTGGACGACAGCCAGTGGGAGG	0.449													27	47	---	---	---	---					-	144381727	CGACAGC	-	144381721	7	5	4	1	0	1	0	1	0	0	0	0	868	535	19	0	1065	0	ARHGAP15	2	144381721	Frame_Shift_Del	DEL	CGACAGC	TCGA-BA-4077-01B-01D-1434-08	4952595	144381721	98817652	45	801											
UPP2	151531	broad.mit.edu	37	chr2	158971685	158971685	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcacaaggagctcgggtttGaggaagctgaagaagacata	14	7	14	6	1	0	4	0	2	0	2	1	6	0	6	0	3	3	4	0	3	5	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:158971685G>C	ENST00000605860.1	+	6	470	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	UPP2_ENST00000409859.4_Missense_Mutation_p.E142Q|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.E85Q			O95045	UPP2_HUMAN	uridine phosphorylase 2	85					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GCTCGGGTTTGAGGAAGCTGA	0.463													15	179					0	0	0	0	C	158971685	G	C	158971685	3	2	4	1	0	0	0	0	1	0	0	0	17109	1291	45	2	442	2	UPP2	2	158971685	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	14589964	158971685	84227688	46	802											
MARCH7	64844	broad.mit.edu	37	chr2	160604337	160604337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttcaagacagagttccttCatattcacaaggagcaagac	14	10	8	9	0	3	3	3	0	0	3	4	4	4	4	1	1	1	3	1	1	4	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:160604337C>T	ENST00000259050.3	+	5	658	c.536C>T	c.(535-537)tCa>tTa	p.S179L	MARCH7_ENST00000409591.1_Missense_Mutation_p.S141L|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000539065.1_Missense_Mutation_p.S123L|MARCH7_ENST00000409175.1_Missense_Mutation_p.S179L	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	179	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AGAGTTCCTTCATATTCACAA	0.328													58	67					0	0	0	0	T	160604337	C	T	160604337	3	4	4	1	0	0	0	0	1	0	0	0	9375	838	29	2	550	2	MARCH7	2	160604337	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1632652	160604337	82595036	47	803											
TTN	7273	broad.mit.edu	37	chr2	179403524	179403524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtagagtgacactatctttgGatattgaaagaatctcaagt	14	13	9	5	0	2	4	1	2	2	2	3	5	2	5	0	1	0	1	0	1	6	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:179403524G>A	ENST00000589042.1	-	354	99256	c.99032C>T	c.(99031-99033)tCc>tTc	p.S33011F	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S31370F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S30443F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S23946F|TTN_ENST00000359218.5_Missense_Mutation_p.S24071F|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S24138F|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31370							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)			ACTATCTTTGGATATTGAAAG	0.383													37	249					0	0	0	0	A	179403524	G	A	179403524	3	1	4	1	0	0	0	0	1	0	0	0	16831	1174	41	2	8983	2	TTN	2	179403524	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	18799187	179403524	63795849	48	804											
CCDC141	285025	broad.mit.edu	37	chr2	179733905	179733905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcctcgtaatcctggattCtctctttctgtttttgatgg	5	20	7	9	1	3	1	0	1	3	0	7	2	5	2	2	2	0	2	2	2	2	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:179733905C>G	ENST00000420890.2	-	15	2450	c.2333G>C	c.(2332-2334)aGa>aCa	p.R778T	CCDC141_ENST00000295723.5_Missense_Mutation_p.R203T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	203							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCCTGGATTCTCTCTTTCTG	0.418													6	254					0	0	0	0	G	179733905	C	G	179733905	3	3	4	1	0	0	0	0	1	0	0	0	2800	913	32	2	2055	2	CCDC141	2	179733905	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	330381	179733905	63465468	49	805											
HSPD1	3329	broad.mit.edu	37	chr2	198353732	198353732	+	Frame_Shift_Del	DEL	C	C	-																															ataatgaatgttaccttcagCacagccactccatctgaaag																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:198353732delC	ENST00000388968.3	-	9	1476	c.1209delG	c.(1207-1209)gtfs	p.V403fs	HSPD1_ENST00000345042.2_Frame_Shift_Del_p.V403fs	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	403					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TTACCTTCAGCACAGCCACTC	0.363													51	133	---	---	---	---					-	198353732	C	-	198353732	7	5	4	1	0	1	0	1	0	0	0	0	7481	697	25	0	528	0	HSPD1	2	198353732	Frame_Shift_Del	DEL	C	TCGA-BA-4077-01B-01D-1434-08	18619827	198353732	44845641	50	806											
CPS1	1373	broad.mit.edu	37	chr2	211521293	211521293	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgttgaagatgcaggtgtCcactcgggagatgccactct	9	10	12	10	1	1	3	0	1	1	2	3	4	2	3	2	2	2	2	2	2	1	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:211521293C>A	ENST00000233072.5	+	30	3799	c.3603C>A	c.(3601-3603)gtC>gtA	p.V1201V	CPS1_ENST00000451903.2_Silent_p.V750V|CPS1_ENST00000430249.2_Silent_p.V1207V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1201	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATGCAGGTGTCCACTCGGGAG	0.413													103	57					1.1777e-47	1.32907e-47	1	0	A	211521293	C	A	211521293	2	1	4	1	0	0	0	0	0	0	0	1	3853	842	30	2		2	CPS1	2	211521293	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	13167561	211521293	31678080	51	807											
SMARCAL1	50485	broad.mit.edu	37	chr2	217279529	217279529	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattggcagaacagcatcaGaggactagctcgggcacctc	11	8	11	11	1	1	2	1	0	0	2	3	3	1	3	1	3	3	4	1	3	3	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:217279529G>C	ENST00000357276.4	+	3	432	c.102G>C	c.(100-102)caG>caC	p.Q34H	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.Q34H	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	34					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AACAGCATCAGAGGACTAGCT	0.522									Schimke Immuno-Osseous Dysplasia				53	105					0	0	0	0	C	217279529	G	C	217279529	3	2	4	1	0	0	0	0	1	0	0	0	14861	933	33	2	104	2	SMARCAL1	2	217279529	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	5758236	217279529	25919844	52	808											
ZNF142	7701	broad.mit.edu	37	chr2	219510915	219510915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaggtcccctgcatgttttCgcatgtgcacacggaggtag	7	11	13	10	2	0	1	0	1	0	0	2	2	1	2	2	3	2	5	2	3	1	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:219510915C>T	ENST00000411696.2	-	6	2209	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	ZNF142_ENST00000449707.1_Missense_Mutation_p.R477Q			P52746	ZN142_HUMAN	zinc finger protein 142	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCATGTTTTCGCATGTGCAC	0.512													21	93					0	0	0	0	T	219510915	C	T	219510915	3	4	4	1	0	0	0	0	1	0	0	0	17826	884	31	1	3649	1	ZNF142	2	219510915	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	2231386	219510915	23688458	53	809											
ZNF142	7701	broad.mit.edu	37	chr2	219510998	219510998	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttggtgttggagtgggtCagcatgtgcttggataggta	6	14	16	5	0	1	0	1	0	0	0	2	2	2	2	1	5	2	4	1	5	2	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:219510998C>T	ENST00000411696.2	-	6	2126	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	ZNF142_ENST00000449707.1_Silent_p.L449L			P52746	ZN142_HUMAN	zinc finger protein 142	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGGAGTGGGTCAGCATGTGCT	0.527													22	70					0	0	0	0	T	219510998	C	T	219510998	2	4	4	1	0	0	0	0	0	0	0	1	17826	813	29	2		2	ZNF142	2	219510998	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	83	219510998	23688375	54	810											
COL6A3	1293	broad.mit.edu	37	chr2	238255176	238255176	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtagccagggtctcccttCtgtccaactatccctggagg	6	10	12	13	0	2	0	0	0	2	0	5	1	4	1	4	4	2	1	4	4	3	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:238255176C>T	ENST00000295550.4	-	32	7514	c.7062G>A	c.(7060-7062)caG>caA	p.Q2354Q	COL6A3_ENST00000346358.4_Silent_p.Q2154Q|COL6A3_ENST00000353578.4_Silent_p.Q2148Q|COL6A3_ENST00000409809.1_Silent_p.Q2148Q|COL6A3_ENST00000347401.3_Silent_p.Q2153Q|COL6A3_ENST00000472056.1_Silent_p.Q1747Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2354	Collagen-like 5.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTCTCCCTTCTGTCCAACTA	0.507													39	34					0	0	0	0	T	238255176	C	T	238255176	2	4	4	1	0	0	0	0	0	0	0	1	3731	912	32	2		2	COL6A3	2	238255176	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	18744178	238255176	4944197	55	811											
OR6B3	150681	broad.mit.edu	37	chr2	240985469	240985469	+	Silent	SNP	G	G	C																															aggatgaaggtgccgaccctGgtgacattctccccactcat																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:240985469G>C	ENST00000319423.4	-	1	20	c.21C>G	c.(19-21)acC>acG	p.T7T		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TGCCGACCCTGGTGACATTCT	0.602													29	19					0	0	0	0	C	240985469	G	C	240985469	2	2	4	1	0	0	0	0	0	0	0	1	11260	1335	47	4		4	OR6B3	2	240985469	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2730293	240985469	2213904	56	812	13	2									
OR6B3	150681	broad.mit.edu	37	chr2	240985470	240985470	+	Missense_Mutation	SNP	G	G	T																															ggatgaaggtgccgaccctgGtgacattctccccactcatg																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:240985470G>T	ENST00000319423.4	-	1	19	c.20C>A	c.(19-21)aCc>aAc	p.T7N		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GCCGACCCTGGTGACATTCTC	0.597													28	18					2.65835e-16	2.88152e-16	1	0	T	240985470	G	T	240985470	3	4	4	1	0	0	0	0	1	0	0	0	11260	1261	44	4	978	4	OR6B3	2	240985470	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1	240985470	2213903	57	813	13	2									
HDAC11	79885	broad.mit.edu	37	chr3	13538259	13538259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctttgctgttgctaccatCacagaaatcccccccgttat	8	13	5	15	1	1	1	1	0	0	1	3	1	3	1	5	0	3	4	5	0	3	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:13538259C>T	ENST00000295757.3	+	4	459	c.276C>T	c.(274-276)atC>atT	p.I92I	HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000437379.2_Silent_p.I64I|HDAC11_ENST00000433119.1_Silent_p.I64I|HDAC11_ENST00000522202.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000404040.1_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	92	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TTGCTACCATCACAGAAATCC	0.572											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	87					0	0	0	0	T	13538259	C	T	13538259	2	4	4	1	0	0	0	0	0	0	0	1	7056	816	29	2		2	HDAC11	3	13538259	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08		13538259	184484171	58	814											
TOP2B	7155	broad.mit.edu	37	chr3	25670595	25670595	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggccaattgtgatggatGaaattaataagcaggccttt	13	12	11	5	0	0	2	0	2	0	0	0	4	0	3	2	3	1	1	2	3	4	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:25670595G>A	ENST00000435706.2	-	14	1917	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	TOP2B_ENST00000264331.4_Silent_p.F577F			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	577					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGTGATGGATGAAATTAATAA	0.274													43	49					0	0	0	0	A	25670595	G	A	25670595	2	1	4	1	0	0	0	0	0	0	0	1	16461	1281	45	2		2	TOP2B	3	25670595	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	12132336	25670595	172351835	59	815											
KIF15	56992	broad.mit.edu	37	chr3	44844322	44844322	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagatagagcaccaccccaGagttgcaaagtatgctatgg	14	7	10	10	0	0	3	0	0	0	3	0	3	0	3	3	1	3	5	3	1	4	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:44844322G>C	ENST00000326047.4	+	14	1675	c.1526G>C	c.(1525-1527)aGa>aCa	p.R509T	KIF15_ENST00000425755.1_Missense_Mutation_p.R144T	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	509					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CACCACCCCAGAGTTGCAAAG	0.383													18	100					0	0	0	0	C	44844322	G	C	44844322	3	2	4	1	0	0	0	0	1	0	0	0	8328	942	33	2	1580	2	KIF15	3	44844322	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	19173727	44844322	153178108	60	816											
CLEC3B	7123	broad.mit.edu	37	chr3	45077096	45077096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccttccacgaggccagcgagGactgcatctcgcgcgggggc	6	5	15	15	5	1	0	0	0	1	0	3	3	2	1	3	4	2	1	3	4	0	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:45077096G>C	ENST00000296130.4	+	3	469	c.289G>C	c.(289-291)Gac>Cac	p.D97H	CLEC3B_ENST00000428034.1_Missense_Mutation_p.D55H|CLEC3B_ENST00000490386.1_3'UTR	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	97	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCAGCGAGGACTGCATCTC	0.632													15	29					0	0	0	0	C	45077096	G	C	45077096	3	2	4	1	0	0	0	0	1	0	0	0	3541	1174	41	2	299	2	CLEC3B	3	45077096	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	232774	45077096	152945334	61	817											
PTPN23	25930	broad.mit.edu	37	chr3	47451515	47451515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagcaggagacccccctGaggagctgcgcagcctcccc	8	4	13	16	1	0	2	0	1	0	1	1	5	1	4	6	3	4	3	6	3	1	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:47451515G>A	ENST00000265562.4	+	20	2304	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	PTPN23_ENST00000431726.1_Missense_Mutation_p.E617K	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	743	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGACCCCCCTGAGGAGCTGCG	0.682													9	6					0	0	0	0	A	47451515	G	A	47451515	3	1	4	1	0	0	0	0	1	0	0	0	12870	1291	45	2	2305	2	PTPN23	3	47451515	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2374419	47451515	150570915	62	818											
P4HTM	54681	broad.mit.edu	37	chr3	49040007	49040007	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggagatgtacgccgcgatCaaggctgaccctgatggtga	10	7	14	10	3	1	4	1	3	0	1	1	6	1	4	2	3	1	2	2	3	2	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:49040007C>G	ENST00000343546.4	+	4	1070	c.702C>G	c.(700-702)atC>atG	p.I234M	P4HTM_ENST00000383729.4_Missense_Mutation_p.I234M|P4HTM_ENST00000468374.1_3'UTR	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	234	EF-hand 2.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	ACGCCGCGATCAAGGCTGACC	0.562													53	52					0	0	0	0	G	49040007	C	G	49040007	3	3	4	1	0	0	0	0	1	0	0	0	11431	816	29	2	716	2	P4HTM	3	49040007	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1588492	49040007	148982423	63	819											
APPL1	26060	broad.mit.edu	37	chr3	57291322	57291322	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagttcaggatccttaggAtctgagtctacaaatttggc	11	12	10	8	0	3	1	1	1	2	0	4	3	4	3	1	3	2	2	1	3	3	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:57291322A>G	ENST00000288266.3	+	15	1443	c.1296A>G	c.(1294-1296)ggA>ggG	p.G432G		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	432					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GATCCTTAGGATCTGAGTCTA	0.433													70	41					0	0	0	0	G	57291322	A	G	57291322	2	3	4	1	0	0	0	0	0	0	0	1	819	320	12	5		5	APPL1	3	57291322	Silent	SNP	A	TCGA-BA-4077-01B-01D-1434-08	8251315	57291322	140731108	64	820											
BBX	56987	broad.mit.edu	37	chr3	107491933	107491933	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctaaaaaagaaaaagaaGaaaagcaaaatggatcgaca	26	3	8	4	1	0	3	0	0	0	3	1	5	0	4	0	1	2	2	0	1	11	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107491933G>C	ENST00000415149.2	+	11	1692	c.1365G>C	c.(1363-1365)aaG>aaC	p.K455N	BBX_ENST00000402543.1_Missense_Mutation_p.K455N|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.K455N|BBX_ENST00000406780.1_Missense_Mutation_p.K455N	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	455	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGAAAAAGAAGAAAAGCAAAA	0.388													160	77					0	0	0	0	C	107491933	G	C	107491933	3	2	4	1	0	0	0	0	1	0	0	0	1347	933	33	2	1395	2	BBX	3	107491933	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	50200611	107491933	90530497	65	821			1	1		8	7	269	N	G	1.122135e-18
BBX	56987	broad.mit.edu	37	chr3	107492069	107492069	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaaggagactggggcataGagaaacttggagatacccct	15	6	12	8	0	0	3	0	0	0	3	0	6	0	3	2	4	2	1	2	4	5	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492069G>C	ENST00000415149.2	+	11	1828	c.1501G>C	c.(1501-1503)Gag>Cag	p.E501Q	BBX_ENST00000402543.1_Missense_Mutation_p.E501Q|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.E501Q|BBX_ENST00000406780.1_Missense_Mutation_p.E501Q	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	501	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E501Q(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CTGGGGCATAGAGAAACTTGG	0.473													115	72					0	0	0	0	C	107492069	G	C	107492069	3	2	4	1	0	0	0	0	1	0	0	0	1347	943	33	2	1531	2	BBX	3	107492069	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	136	107492069	90530361	66	822			1	1		8	7	269	N	G	1.122135e-18
BBX	56987	broad.mit.edu	37	chr3	107492081	107492081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggcatagagaaacttggaGatacccctcgcaagaaggtc	13	6	13	9	1	0	3	0	0	0	3	2	5	0	3	2	4	2	2	2	4	5	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492081G>C	ENST00000415149.2	+	11	1840	c.1513G>C	c.(1513-1515)Gat>Cat	p.D505H	BBX_ENST00000402543.1_Missense_Mutation_p.D505H|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.D505H|BBX_ENST00000406780.1_Missense_Mutation_p.D505H	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	505	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAACTTGGAGATACCCCTCG	0.458													110	69					0	0	0	0	C	107492081	G	C	107492081	3	2	4	1	0	0	0	0	1	0	0	0	1347	942	33	2	1543	2	BBX	3	107492081	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	12	107492081	90530349	67	823			1	1		8	7	269	N	G	1.122135e-18
BBX	56987	broad.mit.edu	37	chr3	107492134	107492134	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggcaagggaagcattttGgatgccaagccaccaaagaa	15	6	12	8	0	0	1	0	0	0	1	0	3	0	3	3	3	3	2	3	3	5	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492134G>C	ENST00000415149.2	+	11	1893	c.1566G>C	c.(1564-1566)ttG>ttC	p.L522F	BBX_ENST00000402543.1_Missense_Mutation_p.L522F|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.L522F|BBX_ENST00000406780.1_Missense_Mutation_p.L522F	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	522	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAGCATTTTGGATGCCAAGC	0.468													34	56					0	0	0	0	C	107492134	G	C	107492134	3	2	4	1	0	0	0	0	1	0	0	0	1347	1339	47	4	1596	4	BBX	3	107492134	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	53	107492134	90530296	68	824			1	1		8	7	269	N	G	1.122135e-18
BBX	56987	broad.mit.edu	37	chr3	107492152	107492152	+	Frame_Shift_Del	DEL	G	G	-																															ttggatgccaagccaccaaaGaaaaaagtgaaatcaagaga																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492152delG	ENST00000415149.2	+	11	1911	c.1584delG	c.(1582-1584)aafs	p.K530fs	BBX_ENST00000325805.8_Frame_Shift_Del_p.K530fs|BBX_ENST00000406780.1_Frame_Shift_Del_p.K530fs|BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Frame_Shift_Del_p.K530fs	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	530	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGCCACCAAAGAAAAAAGTGA	0.448													41	93	---	---	---	---					-	107492152	G	-	107492152	7	5	4	1	0	1	0	1	0	0	0	0	1347	933	33	0	1614	0	BBX	3	107492152	Frame_Shift_Del	DEL	G	TCGA-BA-4077-01B-01D-1434-08	18	107492152	90530278	69	825			1	1		8	7	269	N	G	1.122135e-18
BBX	56987	broad.mit.edu	37	chr3	107492169	107492169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaaaaaagtgaaatcaaGagagaagaaaatgtcaaagg	25	4	10	2	0	2	5	2	1	0	4	2	6	2	5	0	1	0	0	0	1	10	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492169G>C	ENST00000415149.2	+	11	1928	c.1601G>C	c.(1600-1602)aGa>aCa	p.R534T	BBX_ENST00000402543.1_Missense_Mutation_p.R534T|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.R534T|BBX_ENST00000406780.1_Missense_Mutation_p.R534T	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	534	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GTGAAATCAAGAGAGAAGAAA	0.438													7	51					0	0	0	0	C	107492169	G	C	107492169	3	2	4	1	0	0	0	0	1	0	0	0	1347	942	33	2	1631	2	BBX	3	107492169	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	17	107492169	90530261	70	826			1	1		8	7	269	N	G	1.122135e-18
BBX	56987	broad.mit.edu	37	chr3	107492191	107492191	+	Silent	SNP	G	G	A																															gagaagaaaatgtcaaaggaGaaatcctcagacaccaccaa																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492191G>A	ENST00000415149.2	+	11	1950	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	BBX_ENST00000402543.1_Silent_p.E541E|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Silent_p.E541E|BBX_ENST00000406780.1_Silent_p.E541E	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	541	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGTCAAAGGAGAAATCCTCAG	0.433													18	51					0	0	0	0	A	107492191	G	A	107492191	2	1	4	1	0	0	0	0	0	0	0	1	1347	933	33	2		2	BBX	3	107492191	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	22	107492191	90530239	71	827	14	2	1	1		8	7	269	N	G	1.122135e-18
BBX	56987	broad.mit.edu	37	chr3	107492201	107492201	+	Missense_Mutation	SNP	G	G	A																															tgtcaaaggagaaatcctcaGacaccaccaaagagtcaaga																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492201G>A	ENST00000415149.2	+	11	1960	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	BBX_ENST00000402543.1_Missense_Mutation_p.D545N|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.D545N|BBX_ENST00000406780.1_Missense_Mutation_p.D545N	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAATCCTCAGACACCACCAA	0.428													20	54					0	0	0	0	A	107492201	G	A	107492201	3	1	4	1	0	0	0	0	1	0	0	0	1347	942	33	2	1663	2	BBX	3	107492201	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	10	107492201	90530229	72	828	14	2	1	1		8	7	269	N	G	1.122135e-18
BOC	91653	broad.mit.edu	37	chr3	112968688	112968688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acggcgtggagaggaatgagGcctgaggtcacactggcttg	9	7	17	8	2	1	3	1	2	0	1	1	5	1	4	1	6	0	1	1	6	1	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:112968688G>T	ENST00000495514.1	+	3	743	c.39G>T	c.(37-39)agG>agT	p.R13S	BOC_ENST00000484034.1_Missense_Mutation_p.R13S|BOC_ENST00000355385.3_Missense_Mutation_p.R13S|BOC_ENST00000273395.4_Missense_Mutation_p.R13S|BOC_ENST00000485230.1_Missense_Mutation_p.R13S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	13					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GAGGAATGAGGCCTGAGGTCA	0.552													16	126					3.62473e-10	3.84362e-10	1	0	T	112968688	G	T	112968688	3	4	4	1	0	0	0	0	1	0	0	0	1486	1194	42	4	41	4	BOC	3	112968688	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	5476487	112968688	85053742	73	829											
KIAA1407	57577	broad.mit.edu	37	chr3	113724682	113724682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctgcttattgccaggtGcactcagagagacattctga	9	12	11	9	0	2	3	1	1	1	2	2	4	2	3	1	1	4	3	1	1	1	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:113724682G>A	ENST00000295878.3	-	10	1687	c.1541C>T	c.(1540-1542)gCa>gTa	p.A514V	KIAA1407_ENST00000545063.1_Missense_Mutation_p.A345V	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	514										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATTGCCAGGTGCACTCAGAGA	0.542													39	566					0	0	0	0	A	113724682	G	A	113724682	3	1	4	1	0	0	0	0	1	0	0	0	8280	1319	46	4	1301	4	KIAA1407	3	113724682	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	755994	113724682	84297748	74	830											
ZBTB20	26137	broad.mit.edu	37	chr3	114069347	114069347	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaggggctgtggcaggctGaagaggaaaggcttggggcc	8	5	20	8	0	0	2	0	1	0	1	0	3	0	3	2	8	0	4	2	8	2	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:114069347G>A	ENST00000462705.1	-	11	2180	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	ZBTB20_ENST00000481632.1_Silent_p.F453F|ZBTB20_ENST00000393785.2_Silent_p.F453F|ZBTB20_ENST00000464560.1_Silent_p.F453F|ZBTB20_ENST00000357258.3_Silent_p.F453F|ZBTB20_ENST00000474710.1_Silent_p.F526F|ZBTB20_ENST00000471418.1_Silent_p.F453F	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGGCAGGCTGAAGAGGAAAG	0.642													32	170					0	0	0	0	A	114069347	G	A	114069347	2	1	4	1	0	0	0	0	0	0	0	1	17624	1281	45	2		2	ZBTB20	3	114069347	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	344665	114069347	83953083	75	831											
ZBTB20	26137	broad.mit.edu	37	chr3	114070078	114070078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgatccagctggggtcttCcatgtggtggtcgcggggca	4	11	17	9	2	1	1	0	1	1	0	4	1	3	1	2	6	1	2	2	6	0	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:114070078C>T	ENST00000462705.1	-	11	1449	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	ZBTB20_ENST00000481632.1_Missense_Mutation_p.E210K|ZBTB20_ENST00000393785.2_Missense_Mutation_p.E210K|ZBTB20_ENST00000464560.1_Missense_Mutation_p.E210K|ZBTB20_ENST00000357258.3_Missense_Mutation_p.E210K|ZBTB20_ENST00000474710.1_Missense_Mutation_p.E283K|ZBTB20_ENST00000471418.1_Missense_Mutation_p.E210K	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTGGGGTCTTCCATGTGGTGG	0.662													6	208					0	0	0	0	T	114070078	C	T	114070078	3	4	4	1	0	0	0	0	1	0	0	0	17624	864	30	2	1386	2	ZBTB20	3	114070078	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	731	114070078	83952352	76	832											
LSAMP	4045	broad.mit.edu	37	chr3	115561400	115561400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgtggtggcttcattgctCttggattctgtgatagtggg	4	16	14	7	0	3	1	1	1	2	0	3	2	3	2	1	4	1	2	1	4	1	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:115561400C>G	ENST00000490035.1	-	5	1174	c.675G>C	c.(673-675)aaG>aaC	p.K225N	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.K222N	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	225	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTTCATTGCTCTTGGATTCTG	0.498													19	122					0	0	0	0	G	115561400	C	G	115561400	3	3	4	1	0	0	0	0	1	0	0	0	9112	912	32	2	353	2	LSAMP	3	115561400	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1491322	115561400	82461030	77	833											
GOLGB1	2804	broad.mit.edu	37	chr3	121395796	121395796	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaatttcctttaagctgtCattgagctgggtcctgagaa	9	14	11	7	0	1	3	1	3	0	1	3	4	3	3	2	1	2	2	2	1	3	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:121395796C>G	ENST00000393667.3	-	17	9231	c.9121G>C	c.(9121-9123)Gac>Cac	p.D3041H	GOLGB1_ENST00000340645.5_Missense_Mutation_p.D3036H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	3036					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTAAGCTGTCATTGAGCTGG	0.423													14	217					0	0	0	0	G	121395796	C	G	121395796	3	3	4	1	0	0	0	0	1	0	0	0	6613	826	29	2	697	2	GOLGB1	3	121395796	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	5834396	121395796	76626634	78	834											
KALRN	8997	broad.mit.edu	37	chr3	124376308	124376308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcagggcttcatgaagaGaatagaagaaaagggtgtcc	14	7	14	6	0	1	4	1	1	0	3	2	5	2	4	1	2	1	3	1	2	6	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:124376308G>C	ENST00000360013.3	+	40	6000	c.5873G>C	c.(5872-5874)aGa>aCa	p.R1958T	KALRN_ENST00000291478.4_Missense_Mutation_p.R261T|KALRN_ENST00000459915.1_Missense_Mutation_p.R50T|KALRN_ENST00000393496.1_Missense_Mutation_p.R299T|KALRN_ENST00000428018.2_Missense_Mutation_p.R229T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1957	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTCATGAAGAGAATAGAAGAA	0.453													4	129					0	0	0	0	C	124376308	G	C	124376308	3	2	4	1	0	0	0	0	1	0	0	0	8028	942	33	2	6187	2	KALRN	3	124376308	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2980512	124376308	73646122	79	835											
COL6A6	131873	broad.mit.edu	37	chr3	130361868	130361868	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgtgcgagaccgcagtcGtaagtaccctgcttaaaatg	11	10	11	9	3	0	1	0	0	0	1	1	2	0	1	2	0	3	5	2	0	5	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:130361868G>A	ENST00000358511.6	+	30	5258		c.e30+1		COL6A6_ENST00000453409.2_Splice_Site	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6						axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GACCGCAGTCGTAAGTACCCT	0.393													13	80					0	0	0	0	A	130361868	G	A	130361868	5	1	4	1	0	0	0	0	0	0	1	0	3733	1159	40	1	5346	1	COL6A6	3	130361868	Splice_Site	SNP	G	TCGA-BA-4077-01B-01D-1434-08	5985560	130361868	67660562	80	836											
SOX14	8403	broad.mit.edu	37	chr3	137484129	137484129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggcgctctgccctacgcgtCcaccctgggctaccagaacg	6	6	11	18	5	1	1	0	0	1	1	2	1	2	1	4	2	4	2	4	2	3	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:137484129C>T	ENST00000306087.1	+	1	551	c.503C>T	c.(502-504)tCc>tTc	p.S168F		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	168					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CCCTACGCGTCCACCCTGGGC	0.687													9	11					0	0	0	0	T	137484129	C	T	137484129	3	4	4	1	0	0	0	0	1	0	0	0	15033	855	30	2	505	2	SOX14	3	137484129	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	7122261	137484129	60538301	81	837											
BCHE	590	broad.mit.edu	37	chr3	165547864	165547864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaaatcaccatccacggtcgGaccaaagtttactgacaaag	16	7	7	11	2	1	1	1	1	0	0	3	2	2	2	3	2	1	1	3	2	5	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:165547864G>C	ENST00000264381.3	-	2	1124	c.958C>G	c.(958-960)Ccg>Gcg	p.P320A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	320					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCCACGGTCGGACCAAAGTTT	0.373													22	171					0	0	0	0	C	165547864	G	C	165547864	3	2	4	1	0	0	0	0	1	0	0	0	1362	1174	41	2	862	2	BCHE	3	165547864	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	28063735	165547864	32474566	82	838											
PLD1	5337	broad.mit.edu	37	chr3	171431715	171431715	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcaattcggattccatatttCgtttctgtctccttcttccc	5	19	4	13	2	4	0	1	0	3	0	9	1	6	1	3	1	0	1	3	1	2	7			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:171431715C>G	ENST00000356327.5	-	9	949	c.879G>C	c.(877-879)acG>acC	p.T293T	PLD1_ENST00000351298.4_Silent_p.T293T|PLD1_ENST00000342215.6_Silent_p.T293T|PLD1_ENST00000340989.4_Silent_p.T293T	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	293	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.T293T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTCCATATTTCGTTTCTGTCT	0.338													215	145					0	0	0	0	G	171431715	C	G	171431715	2	3	4	1	0	0	0	0	0	0	0	1	12117	871	31	3		3	PLD1	3	171431715	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	5883851	171431715	26590715	83	839											
NLGN1	22871	broad.mit.edu	37	chr3	173322762	173322762	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagaatatcattgatggcaGattgccagaagtcatgcttc	12	11	9	9	0	2	4	2	1	0	3	3	4	2	4	2	1	2	2	2	1	3	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:173322762G>C	ENST00000457714.1	+	3	803	c.374G>C	c.(373-375)aGa>aCa	p.R125T	NLGN1_ENST00000545397.1_Missense_Mutation_p.R125T|NLGN1_ENST00000401917.3_Missense_Mutation_p.R125T|NLGN1_ENST00000361589.4_Missense_Mutation_p.R125T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	125					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATTGATGGCAGATTGCCAGAA	0.433													26	542					0	0	0	0	C	173322762	G	C	173322762	3	2	4	1	0	0	0	0	1	0	0	0	10531	942	33	2	376	2	NLGN1	3	173322762	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1891047	173322762	24699668	84	840											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			102	64					0	0	0	0	A	178936091	G	A	178936091	3	1	4	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	5613329	178936091	19086339	85	841											
BCL6	604	broad.mit.edu	37	chr3	187447044	187447044	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattctggttgaggctgttGagcacgatgaacttgtattt	8	15	12	6	1	1	3	0	3	1	0	1	4	1	3	0	2	2	6	0	2	2	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:187447044G>A	ENST00000406870.2	-	5	1515	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Silent_p.L383L|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Silent_p.L383L	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	383					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGAGGCTGTTGAGCACGATGA	0.607			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								22	903					0	0	0	0	A	187447044	G	A	187447044	2	1	4	1	0	0	0	0	0	0	0	1	1380	1277	45	2		2	BCL6	3	187447044	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	8510953	187447044	10575386	86	842											
TFRC	7037	broad.mit.edu	37	chr3	195782122	195782122	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactcaggaatcctctcaatCagttccttataggtgtccat	11	13	6	11	0	3	0	3	0	1	0	7	1	6	1	3	2	1	1	3	2	5	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:195782122C>G	ENST00000360110.4	-	17	1897	c.1728G>C	c.(1726-1728)ctG>ctC	p.L576L	TFRC_ENST00000420415.1_Silent_p.L495L|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.L294L|TFRC_ENST00000392396.3_Silent_p.L576L	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	576	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TCCTCTCAATCAGTTCCTTAT	0.468			T	BCL6	NHL								40	312					0	0	0	0	G	195782122	C	G	195782122	2	3	4	1	0	0	0	0	0	0	0	1	15906	813	29	2		2	TFRC	3	195782122	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	8335078	195782122	2240308	87	843											
LMLN	89782	broad.mit.edu	37	chr3	197712706	197712706	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcattctaccatgataaaGatggaaatcctctcacttca	13	13	5	10	0	3	2	2	1	2	1	5	3	4	3	2	1	2	1	2	1	4	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:197712706G>C	ENST00000330198.4	+	8	896	c.874G>C	c.(874-876)Gat>Cat	p.D292H	LMLN_ENST00000482695.1_Missense_Mutation_p.D240H|LMLN_ENST00000420910.2_Missense_Mutation_p.D292H|LMLN_ENST00000332636.5_Missense_Mutation_p.D240H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	292					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CCATGATAAAGATGGAAATCC	0.403													26	278					0	0	0	0	C	197712706	G	C	197712706	3	2	4	1	0	0	0	0	1	0	0	0	8902	942	33	2	904	2	LMLN	3	197712706	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1930584	197712706	309724	88	844											
RGS12	6002	broad.mit.edu	37	chr4	3441262	3441262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactggctcggcgcccgggCgggatggtggcatagcgggg	5	6	20	10	5	0	0	0	0	0	0	1	1	0	1	1	8	2	2	1	8	2	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:3441262C>T	ENST00000344733.5	+	18	5099	c.4195C>T	c.(4195-4197)Cgg>Tgg	p.R1399W	RGS12_ENST00000338806.4_Missense_Mutation_p.R751W	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1399						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCGCCCGGGCGGGATGGTGG	0.647													21	32					0	0	0	0	T	3441262	C	T	3441262	3	4	4	1	0	0	0	0	1	0	0	0	13378	759	27	1	4336	1	RGS12	4	3441262	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08		3441262	187713014	89	845											
SDAD1	55153	broad.mit.edu	37	chr4	76886972	76886972	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaacagaaggatcttggttActtctgaaaacataagagaa	18	9	8	6	0	2	3	0	1	2	2	2	5	2	4	0	2	3	1	0	2	7	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:76886972A>G	ENST00000356260.5	-	13	1167	c.1049T>C	c.(1048-1050)gTa>gCa	p.V350A	SDAD1_ENST00000395711.4_Missense_Mutation_p.V313A|SDAD1_ENST00000513089.1_5'UTR	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	350					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATCTTGGTTACTTCTGAAAA	0.473													37	108					0	0	0	0	G	76886972	A	G	76886972	3	3	4	1	0	0	0	0	1	0	0	0	14037	391	14	5	1054	5	SDAD1	4	76886972	Missense_Mutation	SNP	A	TCGA-BA-4077-01B-01D-1434-08	73445710	76886972	114267304	90	846											
CCNG2	901	broad.mit.edu	37	chr4	78081937	78081939	+	In_Frame_Del	DEL	GAA	GAA	-																															tgctggctgctagaatagttGaagaagactgcaatattcca																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:78081937_78081939delGAA	ENST00000316355.5	+	4	696_698	c.340_342delGAA	c.(340-342)del	p.E115del	CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_In_Frame_Del_p.E115del|CCNG2_ENST00000354403.5_In_Frame_Del_p.E115del|CCNG2_ENST00000395640.1_In_Frame_Del_p.E115del|CCNG2_ENST00000509972.1_In_Frame_Del_p.E115del	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	115					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TAGAATAGTTGAAGAAGACTGCA	0.365													71	183	---	---	---	---					-	78081939	GAA	-	78081937	7	5	4	1	0	1	0	1	0	0	0	0	2953	1291	45	0	350	0	CCNG2	4	78081937	In_Frame_Del	DEL	GAA	TCGA-BA-4077-01B-01D-1434-08	1194965	78081937	113072339	91	847											
PTPN13	5783	broad.mit.edu	37	chr4	87705639	87705639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctggggaagaaataaatGaaatatcgtaccccaaagga	17	8	10	6	1	0	2	0	1	0	1	1	4	0	4	2	3	2	2	2	3	8	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:87705639G>A	ENST00000436978.1	+	38	6541	c.6061G>A	c.(6061-6063)Gaa>Aaa	p.E2021K	PTPN13_ENST00000411767.2_Missense_Mutation_p.E2016K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E1997K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E2021K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1825K	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2016						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGAAATAAATGAAATATCGTA	0.378													4	37					0	0	0	0	A	87705639	G	A	87705639	3	1	4	1	0	0	0	0	1	0	0	0	12862	1291	45	2	6207	2	PTPN13	4	87705639	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	9623702	87705639	103448637	92	848											
SPATA5	166378	broad.mit.edu	37	chr4	123855341	123855341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattgcgagtgaaaggggcaGatggcatgatattgggaggg	11	9	18	3	1	0	3	0	2	0	1	0	5	0	4	0	5	1	2	0	5	3	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:123855341G>A	ENST00000274008.3	+	5	664	c.595G>A	c.(595-597)Gat>Aat	p.D199N	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	199					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAAAGGGGCAGATGGCATGAT	0.468													6	124					0	0	0	0	A	123855341	G	A	123855341	3	1	4	1	0	0	0	0	1	0	0	0	15101	942	33	2	613	2	SPATA5	4	123855341	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	36149702	123855341	67298935	93	849											
SLC10A7	84068	broad.mit.edu	37	chr4	147431156	147431156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcaagagtaaagatctGaataaaaagatgcagtttta	19	10	9	3	0	1	4	0	1	1	3	1	5	1	4	0	0	2	4	0	0	9	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:147431156G>T	ENST00000432059.2	-	3	475	c.229C>A	c.(229-231)Cag>Aag	p.Q77K	SLC10A7_ENST00000394059.4_Missense_Mutation_p.Q77K|SLC10A7_ENST00000335472.7_Missense_Mutation_p.Q77K|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000394062.3_Missense_Mutation_p.Q77K|SLC10A7_ENST00000507030.1_Missense_Mutation_p.Q77K|SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000264986.3_Intron			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	77						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GTAAAGATCTGAATAAAAAGA	0.353													29	50					1.30897e-18	1.44382e-18	1	0	T	147431156	G	T	147431156	3	4	4	1	0	0	0	0	1	0	0	0	14467	1299	45	2	878	2	SLC10A7	4	147431156	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	23575815	147431156	43723120	94	850											
ARFIP1	27236	broad.mit.edu	37	chr4	153784795	153784795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatctggacttggtctctCagaaacccaaattacatctc	12	11	5	13	0	4	1	1	0	3	1	6	2	4	2	2	2	2	0	2	2	3	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:153784795C>T	ENST00000451320.2	+	3	295	c.131C>T	c.(130-132)tCa>tTa	p.S44L	ARFIP1_ENST00000356064.3_Missense_Mutation_p.S44L|ARFIP1_ENST00000405727.2_Missense_Mutation_p.S44L|ARFIP1_ENST00000353617.2_Missense_Mutation_p.S44L|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000429148.2_Intron			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	44					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					CTTGGTCTCTCAGAAACCCAA	0.358													12	106					0	0	0	0	T	153784795	C	T	153784795	3	4	4	1	0	0	0	0	1	0	0	0	856	838	29	2	137	2	ARFIP1	4	153784795	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	6353639	153784795	37369481	95	851											
DCHS2	54798	broad.mit.edu	37	chr4	155252756	155252756	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcctaattcacagaacaGagacttgagaacaaaggctt	15	10	7	9	0	2	3	1	1	1	3	3	5	2	3	1	1	2	1	1	1	4	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:155252756G>C	ENST00000357232.3	-	10	2343	c.2344C>G	c.(2344-2346)Ctg>Gtg	p.L782V	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	782	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tcacagaaCAGAGACTTGAGA	0.483													12	27					0	0	0	0	C	155252756	G	C	155252756	3	2	4	1	0	0	0	0	1	0	0	0	4320	933	33	2	6566	2	DCHS2	4	155252756	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1467961	155252756	35901520	96	852											
NPY5R	4889	broad.mit.edu	37	chr4	164271639	164271639	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcatgaaaaagcgtaatCagaagactacggtaaacttc	16	9	7	9	2	2	3	2	1	1	2	4	3	2	3	0	1	3	2	0	1	7	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:164271639C>T	ENST00000515560.1	+	4	1736	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	NPY5R_ENST00000506953.1_Nonsense_Mutation_p.Q72*|NPY5R_ENST00000338566.3_Nonsense_Mutation_p.Q72*			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	72					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAGCGTAATCAGAAGACTAC	0.398													84	335					0	0	0	0	T	164271639	C	T	164271639	4	4	4	1	0	0	0	0	0	1	0	0	10681	827	29	2	216	2	NPY5R	4	164271639	Nonsense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	9018883	164271639	26882637	97	853											
SORBS2	8470	broad.mit.edu	37	chr4	186545444	186545444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgggatttgattttgggaGagacggtttcttccgtgctg	5	15	14	7	3	1	2	0	1	1	1	3	5	3	4	2	3	1	2	2	3	0	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:186545444G>A	ENST00000431808.1	-	14	1690	c.1127C>T	c.(1126-1128)tCt>tTt	p.S376F	SORBS2_ENST00000355634.5_Missense_Mutation_p.S476F|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.S376F|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S280F|SORBS2_ENST00000498125.1_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	376						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GATTTTGGGAGAGACGGTTTC	0.537													42	77					0	0	0	0	A	186545444	G	A	186545444	3	1	4	1	0	0	0	0	1	0	0	0	15016	942	33	2	2211	2	SORBS2	4	186545444	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	22273805	186545444	4608832	98	854											
SDHA	6389	broad.mit.edu	37	chr5	226112	226112	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggcccatcggtgctgcTgtgtggctgatcggactggc	4	9	17	11	2	0	1	0	1	0	0	2	2	0	2	1	6	2	4	1	6	0	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:226112T>C	ENST00000264932.6	+	5	686	c.571T>C	c.(571-573)Tgt>Cgt	p.C191R	SDHA_ENST00000510361.1_Missense_Mutation_p.C143R|SDHA_ENST00000504309.1_Missense_Mutation_p.C191R	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	191					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCGGTGCTGCTGTGTGGCTGA	0.562									Familial Paragangliomas				23	171					0	0	0	0	C	226112	T	C	226112	3	2	4	1	0	0	0	0	1	0	0	0	14050	1580	55	5	589	5	SDHA	5	226112	Missense_Mutation	SNP	T	TCGA-BA-4077-01B-01D-1434-08		226112	180689148	99	855											
DNAH5	1767	broad.mit.edu	37	chr5	13864529	13864529	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttcctctttatatttcaGaagaggtgcctccatgatat	10	17	6	8	0	2	3	1	1	1	2	4	3	4	3	3	1	1	0	3	1	5	7			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:13864529G>A	ENST00000265104.4	-	28	4677	c.4573C>T	c.(4573-4575)Ctg>Ttg	p.L1525L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1525	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTATATTTCAGAAGAGGTGCC	0.408									Kartagener syndrome				13	176					0	0	0	0	A	13864529	G	A	13864529	2	1	4	1	0	0	0	0	0	0	0	1	4641	933	33	2		2	DNAH5	5	13864529	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	13638417	13864529	167050731	100	856											
GPBP1	65056	broad.mit.edu	37	chr5	56531816	56531816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttaaatcctgagtatgaGagagaaccaaatcacaataa	18	10	6	7	0	2	3	1	2	1	2	3	5	3	3	2	0	1	1	2	0	7	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:56531816G>A	ENST00000424459.3	+	6	1709	c.435G>A	c.(433-435)gaG>gaA	p.E145E	GPBP1_ENST00000454432.2_Silent_p.E145E|GPBP1_ENST00000264779.6_Silent_p.E152E|GPBP1_ENST00000511209.1_Silent_p.E152E|GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000538707.1_Silent_p.E152E|GPBP1_ENST00000506184.2_Silent_p.E145E	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CTGAGTATGAGAGAGAACCAA	0.318													9	136					0	0	0	0	A	56531816	G	A	56531816	2	1	4	1	0	0	0	0	0	0	0	1	6644	933	33	2		2	GPBP1	5	56531816	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	42667287	56531816	124383444	101	857											
PLK2	10769	broad.mit.edu	37	chr5	57755707	57755707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcttcttcttcgagtccgctCcgcaacccttgcccagcgcc	4	10	8	19	4	2	0	0	0	2	0	5	1	4	0	5	0	3	3	5	0	1	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:57755707C>T	ENST00000274289.3	-	1	380	c.80G>A	c.(79-81)gGa>gAa	p.G27E		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	27					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CGAGTCCGCTCCGCAACCCTT	0.682													4	35					0	0	0	0	T	57755707	C	T	57755707	3	4	4	1	0	0	0	0	1	0	0	0	12168	855	30	2	2033	2	PLK2	5	57755707	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1223891	57755707	123159553	102	858											
ERCC8	1161	broad.mit.edu	37	chr5	60183269	60183269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgaaaataatatttacctCatcatcatcaggaactggtt	14	14	6	7	0	4	1	4	1	0	0	4	2	4	2	1	2	2	1	1	2	6	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:60183269C>G	ENST00000426742.2	-	12	1380	c.946G>C	c.(946-948)Gag>Cag	p.E316Q	ERCC8_ENST00000265038.5_Missense_Mutation_p.E374Q|ERCC8_ENST00000543101.1_Missense_Mutation_p.E221Q|ERCC8_ENST00000462279.1_5'UTR			Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 8	374					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				ATATTTACCTCATCATCATCA	0.348													33	96					0	0	0	0	G	60183269	C	G	60183269	3	3	4	1	0	0	0	0	1	0	0	0	5257	835	29	2	78	2	ERCC8	5	60183269	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	2427562	60183269	120731991	103	859											
HTR1A	3350	broad.mit.edu	37	chr5	63256428	63256428	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtgggcatgtggcagctGctctcgcagaagggcagaac	9	6	17	9	1	1	2	0	0	1	2	2	2	1	2	0	4	3	6	0	4	2	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:63256428G>A	ENST00000323865.3	-	1	1352	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	373					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGTGGCAGCTGCTCTCGCAGA	0.542													94	167					0	0	0	0	A	63256428	G	A	63256428	2	1	4	1	0	0	0	0	0	0	0	1	7489	1310	46	4		4	HTR1A	5	63256428	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	3073159	63256428	117658832	104	860											
SPZ1	84654	broad.mit.edu	37	chr5	79616896	79616896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggaaataatggagtcGgtttccaaacccagccaaat	13	10	8	10	1	1	0	0	0	1	0	3	2	2	2	3	3	2	1	3	3	4	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:79616896G>A	ENST00000296739.4	+	1	1107	c.862G>A	c.(862-864)Ggt>Agt	p.G288S		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TAATGGAGTCGGTTTCCAAAC	0.413													51	70					0	0	0	0	A	79616896	G	A	79616896	3	1	4	1	0	0	0	0	1	0	0	0	15217	1116	39	1	864	1	SPZ1	5	79616896	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	16360468	79616896	101298364	105	861											
SPZ1	84654	broad.mit.edu	37	chr5	79617264	79617264	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagcttgcaatacccagttCaatattcatgttgcaagaaa	16	11	6	8	0	2	1	2	0	0	1	2	1	2	1	1	0	4	5	1	0	7	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:79617264C>G	ENST00000296739.4	+	1	1475	c.1230C>G	c.(1228-1230)ttC>ttG	p.F410L		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ATACCCAGTTCAATATTCATG	0.378													24	86					0	0	0	0	G	79617264	C	G	79617264	3	3	4	1	0	0	0	0	1	0	0	0	15217	825	29	2	1232	2	SPZ1	5	79617264	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	368	79617264	101297996	106	862											
RASGRF2	5924	broad.mit.edu	37	chr5	80390809	80390809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggatgagtgacatcagtCaggtaagaaagtggcttttg	11	11	13	6	0	2	3	2	2	0	1	2	4	2	4	1	3	0	2	1	3	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:80390809C>G	ENST00000265080.4	+	12	1820	c.1753C>G	c.(1753-1755)Cag>Gag	p.Q585E		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	585	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGACATCAGTCAGGTAAGAAA	0.383													14	75					0	0	0	0	G	80390809	C	G	80390809	3	3	4	1	0	0	0	0	1	0	0	0	13155	827	29	2	1799	2	RASGRF2	5	80390809	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	773545	80390809	100524451	107	863											
DCP2	167227	broad.mit.edu	37	chr5	112337070	112337070	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagaacattgagtggttctCtattgagaaattgccttgtc	10	15	9	7	0	2	3	1	2	1	2	4	4	2	3	1	1	2	1	1	1	3	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:112337070C>G	ENST00000389063.2	+	6	800	c.602C>G	c.(601-603)tCt>tGt	p.S201C	DCP2_ENST00000515408.1_Missense_Mutation_p.S201C|DCP2_ENST00000543319.1_5'UTR	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	201	Nudix hydrolase.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		GAGTGGTTCTCTATTGAGAAA	0.333													40	167					0	0	0	0	G	112337070	C	G	112337070	3	3	4	1	0	0	0	0	1	0	0	0	4332	913	32	2	624	2	DCP2	5	112337070	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	31946261	112337070	68578190	108	864											
PCDHA9	9752	broad.mit.edu	37	chr5	140230180	140230180	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggatgtcaacgtgtacctGatcatcgccatctgcgcggt	7	11	12	11	4	3	1	2	1	1	0	4	2	3	2	2	2	3	1	2	2	2	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140230180G>A	ENST00000378122.3	+	1	2824	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.L700L|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGTACCTGATCATCGCCA	0.662													7	103					0	0	0	0	A	140230180	G	A	140230180	2	1	4	1	0	0	0	0	0	0	0	1	11602	1277	45	2		2	PCDHA9	5	140230180	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	27893110	140230180	40685080	109	865											
PCDHB4	56131	broad.mit.edu	37	chr5	140502348	140502348	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctggaaaacagccccctAgactctccaattgttagggt	10	10	9	12	0	1	1	0	0	1	1	3	2	2	2	4	2	2	1	4	2	5	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140502348A>G	ENST00000194152.1	+	1	768	c.768A>G	c.(766-768)ctA>ctG	p.L256L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		256	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGCCCCCTAGACTCTCCAA	0.448													57	161					0	0	0	0	G	140502348	A	G	140502348	2	3	4	1	0	0	0	0	0	0	0	1	11615	407	15	5		5	PCDHB4	5	140502348	Silent	SNP	A	TCGA-BA-4077-01B-01D-1434-08	272168	140502348	40412912	110	866											
PCDHGC5	56097	broad.mit.edu	37	chr5	140868963	140868963	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaatgttgctcaggatctGggcttaaagatgacagatct	11	11	13	6	0	3	3	1	1	2	2	3	5	3	5	0	3	1	3	0	3	3	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140868963G>C	ENST00000252087.1	+	1	156	c.156G>C	c.(154-156)ctG>ctC	p.L52L	PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		52	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGATCTGGGCTTAAAGA	0.582													13	98					0	0	0	0	C	140868963	G	C	140868963	2	2	4	1	0	0	0	0	0	0	0	1	11642	1335	47	4		4	PCDHGC5	5	140868963	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	366615	140868963	40046297	111	867											
DIAPH1	1729	broad.mit.edu	37	chr5	140955833	140955833	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagctttggcttcagatttCtccacctttgtcttatcaat	7	17	6	11	0	4	1	2	0	2	1	5	1	4	1	2	1	1	3	2	1	2	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140955833C>G	ENST00000253811.6	-	14	1565	c.1425G>C	c.(1423-1425)gaG>gaC	p.E475D	DIAPH1_ENST00000520569.1_Missense_Mutation_p.E421D|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E466D|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E466D|DIAPH1_ENST00000398557.4_Missense_Mutation_p.E475D|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E466D|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E475D|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E466D			O60610	DIAP1_HUMAN	diaphanous-related formin 1	475					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCAGATTTCTCCACCTTTG	0.363													36	145					0	0	0	0	G	140955833	C	G	140955833	3	3	4	1	0	0	0	0	1	0	0	0	4555	912	32	2	2453	2	DIAPH1	5	140955833	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	86870	140955833	39959427	112	868											
RGS14	10636	broad.mit.edu	37	chr5	176795809	176795809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgcccgatggcacagcctCcttggccctggccagacctg	5	7	11	18	1	0	1	0	0	0	1	1	2	1	1	7	3	2	1	7	3	0	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:176795809C>T	ENST00000408923.3	+	9	1129	c.941C>T	c.(940-942)tCc>tTc	p.S314F		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	314	Necessary for interaction with RABGEF1 (By similarity).|RBD 1.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCACAGCCTCCTTGGCCCTG	0.592											OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	41					0	0	0	0	T	176795809	C	T	176795809	3	4	4	1	0	0	0	0	1	0	0	0	13380	855	30	2	975	2	RGS14	5	176795809	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	35839976	176795809	4119451	113	869											
DBN1	1627	broad.mit.edu	37	chr5	176899143	176899143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacacgagagcttgtctCtcgcgtccatccctccaggc	7	8	10	16	3	1	1	0	0	1	1	6	3	4	2	3	2	1	1	3	2	0	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:176899143C>A	ENST00000292385.5	-	2	678	c.69G>T	c.(67-69)gaG>gaT	p.E23D	DBN1_ENST00000309007.5_Intron|DBN1_ENST00000393565.1_Intron	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	0	ADF-H.				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCTTGTCTCTCGCGTCCAT	0.667													8	50					2.74318e-10	2.92295e-10	1	0	A	176899143	C	A	176899143	3	1	4	1	0	0	0	0	1	0	0	0	4285	912	32	2	1942	2	DBN1	5	176899143	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	103334	176899143	4016117	114	870											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834627	27834627	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttcacacgccagcttcCtacttctttttggcagccgc	5	14	8	14	2	2	0	1	0	1	0	3	0	3	0	3	2	3	3	3	2	1	7			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:27834627C>T	ENST00000331442.3	-	1	732	c.681G>A	c.(679-681)taG>taA	p.*227*		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	0					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CGCCAGCTTCCTACTTCTTTT	0.517													15	23					0	0	0	0	T	27834627	C	T	27834627	2	4	4	1	0	0	0	0	0	0	0	1	7173	692	24	4		4	HIST1H1B	6	27834627	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08		27834627	143280440	115	871											
RXRB	6257	broad.mit.edu	37	chr6	33165572	33165572	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccagtggccaggcacttctGatagcggcagtactgacagc	9	7	13	12	1	1	2	0	2	1	0	1	2	1	2	2	3	3	3	2	3	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:33165572G>A	ENST00000374680.3	-	4	998	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	RXRB_ENST00000374685.4_Nonsense_Mutation_p.Q263*|RXRB_ENST00000413614.2_Nonsense_Mutation_p.Q167*|RXRB_ENST00000544186.1_Nonsense_Mutation_p.Q73*	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	263					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGCACTTCTGATAGCGGCAG	0.577													6	69					0	0	0	0	A	33165572	G	A	33165572	4	1	4	1	0	0	0	0	0	1	0	0	13849	1299	45	2	842	2	RXRB	6	33165572	Nonsense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	5330945	33165572	137949495	116	872											
SLC26A8	116369	broad.mit.edu	37	chr6	35980010	35980010	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcatatcttccttacCttggggaacttgcacaaggc	9	12	9	11	0	2	0	1	0	1	0	3	1	3	1	2	4	3	2	2	4	4	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:35980010C>G	ENST00000490799.1	-	3	681	c.328_splice	c.e3+1	p.G110_splice	SLC26A8_ENST00000355574.2_Splice_Site_p.G110_splice|SLC26A8_ENST00000394602.2_Splice_Site_p.G110_splice	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	110					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCTTCCTTACCTTGGGGAACT	0.418													28	454					0	0	0	0	G	35980010	C	G	35980010	5	3	4	1	0	0	0	0	0	0	1	0	14611	695	24	4	2656	4	SLC26A8	6	35980010	Splice_Site	SNP	C	TCGA-BA-4077-01B-01D-1434-08	2814438	35980010	135135057	117	873											
HCRTR2	3062	broad.mit.edu	37	chr6	55113511	55113511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcaatctttctctggctGatgtgctcgtgaccatcacc	7	14	8	12	1	4	2	2	2	2	0	6	2	4	2	2	1	1	2	2	1	2	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:55113511G>T	ENST00000370862.3	+	2	634	c.298G>T	c.(298-300)Gat>Tat	p.D100Y		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	100					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTCTCTGGCTGATGTGCTCGT	0.453													32	235					6.00712e-18	6.60934e-18	1	0	T	55113511	G	T	55113511	3	4	4	1	0	0	0	0	1	0	0	0	7052	1290	45	2	304	2	HCRTR2	6	55113511	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	19133501	55113511	116001556	118	874											
DST	667	broad.mit.edu	37	chr6	56458614	56458614	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagaaattgtgatgtatctCaagtcacctttgtgagaaat	13	13	8	7	0	2	3	2	2	1	2	3	4	2	3	2	0	0	1	2	0	4	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:56458614C>T	ENST00000370754.5	-	48	12479	c.12480G>A	c.(12478-12480)ttG>ttA	p.L4160L	DST_ENST00000370769.4_Silent_p.L3982L|DST_ENST00000370788.2_Silent_p.L1894L|DST_ENST00000421834.2_Silent_p.L1894L|DST_ENST00000312431.6_Silent_p.L3980L|DST_ENST00000244364.6_Silent_p.L1568L|DST_ENST00000361203.3_Silent_p.L3980L|DST_ENST00000446842.2_Silent_p.L3656L			Q03001	DYST_HUMAN	dystonin	3980					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGATGTATCTCAAGTCACCTT	0.438													37	364					0	0	0	0	T	56458614	C	T	56458614	2	4	4	1	0	0	0	0	0	0	0	1	4819	825	29	2		2	DST	6	56458614	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1345103	56458614	114656453	119	875											
DST	667	broad.mit.edu	37	chr6	56470575	56470575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctagatcagtacctaattCagaagttgaactgatattat	14	14	7	6	0	2	4	2	2	0	2	2	4	2	4	1	0	3	3	1	0	7	7			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:56470575C>T	ENST00000370754.5	-	39	8751	c.8752G>A	c.(8752-8754)Gaa>Aaa	p.E2918K	DST_ENST00000370769.4_Missense_Mutation_p.E2740K|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.E2740K|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.E2740K|DST_ENST00000446842.2_Missense_Mutation_p.E2414K			Q03001	DYST_HUMAN	dystonin	2740					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTACCTAATTCAGAAGTTGAA	0.333													15	53					0	0	0	0	T	56470575	C	T	56470575	3	4	4	1	0	0	0	0	1	0	0	0	4819	841	29	2		2	DST	6	56470575	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	11961	56470575	114644492	120	876											
EEF1A1	1915	broad.mit.edu	37	chr6	74229717	74229717	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatctacgtgtccaatgacGacaatgttgatatgagtctt	12	13	9	7	2	2	3	0	3	2	0	3	5	3	3	1	0	1	1	1	0	5	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:74229717G>A	ENST00000316292.9	-	1	1024	c.33C>T	c.(31-33)gtC>gtT	p.V11V	EEF1A1_ENST00000331523.2_Silent_p.V11V|EEF1A1_ENST00000309268.6_Silent_p.V11V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	11						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTCCAATGACGACAATGTTGA	0.418													15	127					0	0	0	0	A	74229717	G	A	74229717	2	1	4	1	0	0	0	0	0	0	0	1	4959	1045	37	1		1	EEF1A1	6	74229717	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	17759142	74229717	96885350	121	877											
GABRR2	2570	broad.mit.edu	37	chr6	89974233	89974233	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgaacacaaagctgacccaGaggtagatgtccacggcctt	13	6	10	12	2	0	3	0	1	0	2	1	4	1	3	3	2	2	2	3	2	3	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:89974233G>C	ENST00000402938.3	-	8	1117	c.984C>G	c.(982-984)ctC>ctG	p.L328L	GABRR2_ENST00000602399.1_Silent_p.L353L			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	353					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		AGCTGACCCAGAGGTAGATGT	0.592													22	95					0	0	0	0	C	89974233	G	C	89974233	2	2	4	1	0	0	0	0	0	0	0	1	6225	929	33	2		2	GABRR2	6	89974233	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	15744516	89974233	81140834	122	878											
MDN1	23195	broad.mit.edu	37	chr6	90494802	90494802	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtctagcaaagtagcatGactgtttagcggtcgatacc	10	13	10	8	2	1	1	0	1	1	0	2	2	1	1	1	1	4	4	1	1	5	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:90494802G>C	ENST00000369393.3	-	9	1493	c.1378C>G	c.(1378-1380)Cat>Gat	p.H460D	MDN1_ENST00000428876.1_Missense_Mutation_p.H460D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	460					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAAGTAGCATGACTGTTTAGC	0.378													6	344					0	0	0	0	C	90494802	G	C	90494802	3	2	4	1	0	0	0	0	1	0	0	0	9484	1290	45	2	15788	2	MDN1	6	90494802	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	520569	90494802	80620265	123	879											
PTPRK	5796	broad.mit.edu	37	chr6	128643138	128643138	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtattacacatatagtgaGaactgatgacatcaaaacat	18	11	6	6	0	1	3	1	3	0	1	1	4	1	3	0	0	3	1	0	0	7	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:128643138G>C	ENST00000525459.1	-	3	769	c.541C>G	c.(541-543)Ctc>Gtc	p.L181V	PTPRK_ENST00000368227.3_Intron|PTPRK_ENST00000368210.3_Intron|PTPRK_ENST00000368213.5_Intron|PTPRK_ENST00000368226.4_Intron|PTPRK_ENST00000524481.1_Intron|PTPRK_ENST00000532331.1_Intron|PTPRK_ENST00000368207.3_Intron|PTPRK_ENST00000368215.3_Intron			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	0	MAM.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CATATAGTGAGAACTGATGAC	0.428													8	47					0	0	0	0	C	128643138	G	C	128643138	3	2	4	1	0	0	0	0	1	0	0	0	12887	957	33	2		2	PTPRK	6	128643138	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	38148336	128643138	42471929	124	880											
MAP3K5	4217	broad.mit.edu	37	chr6	136888996	136888996	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactctcagatgcaaggctGaaatgtggccttagttctgt	9	13	10	9	0	3	2	2	1	2	1	4	2	3	2	1	2	1	3	1	2	3	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:136888996G>A	ENST00000359015.4	-	26	3894	c.3534C>T	c.(3532-3534)ttC>ttT	p.F1178F	MAP3K5_ENST00000355845.4_Silent_p.F425F	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1178					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATGCAAGGCTGAAATGTGGCC	0.408													48	106					0	0	0	0	A	136888996	G	A	136888996	2	1	4	1	0	0	0	0	0	0	0	1	9322	1281	45	2		2	MAP3K5	6	136888996	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	8245858	136888996	34226071	125	881											
FNDC1	84624	broad.mit.edu	37	chr6	159659662	159659662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatggaaatcctcttcGgattaaactaggaggagatg	13	11	10	7	1	2	1	1	0	1	1	4	5	3	4	1	4	1	0	1	4	4	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:159659662G>A	ENST00000297267.9	+	13	4345	c.4145G>A	c.(4144-4146)cGg>cAg	p.R1382Q	FNDC1_ENST00000340366.6_Missense_Mutation_p.R1319Q	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1382						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AATCCTCTTCGGATTAAACTA	0.388													8	20					0	0	0	0	A	159659662	G	A	159659662	3	1	4	1	0	0	0	0	1	0	0	0	6013	1116	39	1	4195	1	FNDC1	6	159659662	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	22770666	159659662	11455405	126	882											
WTAP	9589	broad.mit.edu	37	chr6	160176375	160176375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgactttccttcttctccagGgaatggtaataagtcctcca	9	14	7	11	0	2	1	0	1	2	0	6	2	5	2	4	2	0	1	4	2	3	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:160176375G>A	ENST00000358372.4	+	8	2680	c.923G>A	c.(922-924)gGg>gAg	p.G308E	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	308					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TCTTCTCCAGGGAATGGTAAT	0.507													30	71					0	0	0	0	A	160176375	G	A	160176375	3	1	4	1	0	0	0	0	1	0	0	0	17505	1232	43	4	953	4	WTAP	6	160176375	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	516713	160176375	10938692	127	883											
TCP1	6950	broad.mit.edu	37	chr6	160200096	160200096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaatcattaagggctccaGagtgaacagcatcttcataa	15	10	7	9	0	4	2	3	1	1	1	5	2	5	2	1	1	2	2	1	1	4	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:160200096G>A	ENST00000321394.7	-	12	1932	c.1652C>T	c.(1651-1653)tCt>tTt	p.S551F	ACAT2_ENST00000541436.1_3'UTR|TCP1_ENST00000420894.2_3'UTR|TCP1_ENST00000392168.2_Missense_Mutation_p.S396F|TCP1_ENST00000544255.1_Missense_Mutation_p.S327F	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	551					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AAGGGCTCCAGAGTGAACAGC	0.318													22	90					0	0	0	0	A	160200096	G	A	160200096	3	1	4	1	0	0	0	0	1	0	0	0	15803	942	33	2	22	2	TCP1	6	160200096	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	23721	160200096	10914971	128	884											
PLG	5340	broad.mit.edu	37	chr6	161134091	161134091	+	Missense_Mutation	SNP	G	G	A																															atccagacaacgatccgcagGggccctggtgctatactact																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:161134091G>A	ENST00000308192.9	+	5	544	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	161	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGATCCGCAGGGGCCCTGGTG	0.478													74	154					0	0	0	0	A	161134091	G	A	161134091	3	1	4	1	0	0	0	0	1	0	0	0	12158	1232	43	4	503	4	PLG	6	161134091	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	933995	161134091	9980976	129	885	15	2									
PLG	5340	broad.mit.edu	37	chr6	161134092	161134092	+	Missense_Mutation	SNP	G	G	A																															tccagacaacgatccgcaggGgccctggtgctatactactg																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:161134092G>A	ENST00000308192.9	+	5	545	c.482G>A	c.(481-483)gGg>gAg	p.G161E	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	161	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GATCCGCAGGGGCCCTGGTGC	0.483													74	155					0	0	0	0	A	161134092	G	A	161134092	3	1	4	1	0	0	0	0	1	0	0	0	12158	1232	43	4	504	4	PLG	6	161134092	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1	161134092	9980975	130	886	15	2									
MLLT4	4301	broad.mit.edu	37	chr6	168276155	168276155	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgcaggaatttcggagctCagatgggcggcctgattcag	10	9	14	8	2	2	2	2	1	0	1	3	4	2	4	1	4	2	2	1	4	2	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:168276155C>G	ENST00000366806.2	+	5	861	c.719C>G	c.(718-720)tCa>tGa	p.S240*	MLLT4_ENST00000392112.1_Nonsense_Mutation_p.S239*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.S240*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.S240*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.S239*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.S240*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.S240*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	240					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTTCGGAGCTCAGATGGGCGG	0.438			T	MLL	AL								53	341					0	0	0	0	G	168276155	C	G	168276155	4	3	4	1	0	0	0	0	0	1	0	0	9698	838	29	2	737	2	MLLT4	6	168276155	Nonsense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	7142063	168276155	2838912	131	887											
SMOC2	64094	broad.mit.edu	37	chr6	169053734	169053734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggagacatcggcaaaaagGaaatcaaacccttcaagagg	17	5	11	8	1	2	2	2	0	0	2	3	4	2	3	1	4	1	1	1	4	5	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:169053734G>A	ENST00000354536.5	+	11	1364	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	SMOC2_ENST00000356284.2_Missense_Mutation_p.E371K	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	371	EF-hand 1.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGGCAAAAAGGAAATCAAACC	0.443													34	103					0	0	0	0	A	169053734	G	A	169053734	3	1	4	1	0	0	0	0	1	0	0	0	14890	1175	41	2	1186	2	SMOC2	6	169053734	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	777579	169053734	2061333	132	888											
USP42	84132	broad.mit.edu	37	chr7	6193669	6193669	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggagcttaacaggcgatgcGagcccgttgtcccaggacgc	8	6	15	12	4	0	0	0	0	0	0	1	4	1	2	2	3	4	2	2	3	1	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:6193669G>C	ENST00000306177.5	+	15	2642	c.2484G>C	c.(2482-2484)gcG>gcC	p.A828A		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	828	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAGGCGATGCGAGCCCGTTGT	0.716													9	66					0	0	0	0	C	6193669	G	C	6193669	2	2	4	1	0	0	0	0	0	0	0	1	17169	1045	37	3		3	USP42	7	6193669	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08		6193669	152944994	133	889											
HIBADH	11112	broad.mit.edu	37	chr7	27689115	27689115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacctgcatcttgaaactCtttgcaggcatcagggaaca	11	11	8	11	0	4	1	2	1	2	0	4	2	4	2	1	2	4	3	1	2	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:27689115C>T	ENST00000265395.2	-	2	435	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	77					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	TCTTGAAACTCTTTGCAGGCA	0.353													26	49					0	0	0	0	T	27689115	C	T	27689115	3	4	4	1	0	0	0	0	1	0	0	0	7149	922	32	2	809	2	HIBADH	7	27689115	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	21495446	27689115	131449548	134	890											
NEUROD6	63974	broad.mit.edu	37	chr7	31378495	31378495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagtctctattttggacaGtttctgggttttagaataac	11	17	8	5	0	2	1	0	0	2	1	3	2	2	2	0	2	1	2	0	2	6	8			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:31378495G>C	ENST00000297142.3	-	2	710	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	130	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ATTTTGGACAGTTTCTGGGTT	0.483													41	77					0	0	0	0	C	31378495	G	C	31378495	3	2	4	1	0	0	0	0	1	0	0	0	10421	1020	36	4	629	4	NEUROD6	7	31378495	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	3689380	31378495	127760168	135	891											
CAMK2B	816	broad.mit.edu	37	chr7	44281890	44281890	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtcagcatctggttgAtgaggtttttggcttcagga	7	15	14	5	0	3	3	2	3	1	0	3	4	3	4	0	5	1	4	0	5	0	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:44281890A>G	ENST00000395749.2	-	10	822	c.746T>C	c.(745-747)aTc>aCc	p.I249T	CAMK2B_ENST00000258682.6_Missense_Mutation_p.I249T|CAMK2B_ENST00000440254.2_Missense_Mutation_p.I249T|CAMK2B_ENST00000502837.2_Missense_Mutation_p.I120T|CAMK2B_ENST00000353625.4_Missense_Mutation_p.I249T|CAMK2B_ENST00000457475.1_Missense_Mutation_p.I249T|CAMK2B_ENST00000395747.2_Missense_Mutation_p.I249T|CAMK2B_ENST00000350811.3_Missense_Mutation_p.I249T|CAMK2B_ENST00000347193.4_Missense_Mutation_p.I249T|CAMK2B_ENST00000346990.4_Missense_Mutation_p.I249T|CAMK2B_ENST00000358707.3_Missense_Mutation_p.I249T	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	249	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CATCTGGTTGATGAGGTTTTT	0.627													45	95					0	0	0	0	G	44281890	A	G	44281890	3	3	4	1	0	0	0	0	1	0	0	0	2625	333	12	5	1313	5	CAMK2B	7	44281890	Missense_Mutation	SNP	A	TCGA-BA-4077-01B-01D-1434-08	12903395	44281890	114856773	136	892											
ZNF273	10793	broad.mit.edu	37	chr7	64363754	64363754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttacctgcaggtattgggaGatccacagctaagacgccag	11	8	12	10	1	0	2	0	0	0	2	1	3	1	2	3	2	3	4	3	2	3	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:64363754G>A	ENST00000476120.1	+	1	130	c.59G>A	c.(58-60)aGa>aAa	p.R20K	ZNF273_ENST00000527278.1_Intron|ZNF273_ENST00000545510.1_5'UTR|ZNF273_ENST00000319636.5_Intron	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GGTATTGGGAGATCCACAGCT	0.597													49	90					0	0	0	0	A	64363754	G	A	64363754	3	1	4	1	0	0	0	0	1	0	0	0	17903	942	33	2	61	2	ZNF273	7	64363754	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	20081864	64363754	94774909	137	893											
ZNF273	10793	broad.mit.edu	37	chr7	64388515	64388515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtgaagaatgtggcaaagCctttaaccagtccttaactc	13	11	8	9	0	0	2	0	1	0	1	2	2	1	2	3	1	3	1	3	1	5	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:64388515C>T	ENST00000476120.1	+	4	880	c.809C>T	c.(808-810)gCc>gTc	p.A270V	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.A205V	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGTGGCAAAGCCTTTAACCAG	0.328													35	76					0	0	0	0	T	64388515	C	T	64388515	3	4	4	1	0	0	0	0	1	0	0	0	17903	739	26	4	823	4	ZNF273	7	64388515	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	24761	64388515	94750148	138	894											
GNAI1	2770	broad.mit.edu	37	chr7	79764544	79764544	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagatgatcgaccgcaaccTccgtgaggacggcgagaagg	12	5	14	10	5	0	4	0	2	0	2	2	7	1	5	3	3	1	1	3	3	3	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:79764544T>C	ENST00000351004.3	+	1	441	c.68T>C	c.(67-69)cTc>cCc	p.L23P	GNAI1_ENST00000490206.1_3'UTR	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	23					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GACCGCAACCTCCGTGAGGAC	0.731													9	12					0	0	0	0	C	79764544	T	C	79764544	3	2	4	1	0	0	0	0	1	0	0	0	6555	1551	54	5	70	5	GNAI1	7	79764544	Missense_Mutation	SNP	T	TCGA-BA-4077-01B-01D-1434-08	15376029	79764544	79374119	139	895											
GNAT3	346562	broad.mit.edu	37	chr7	80091924	80091924	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacttctttctctcagatCtctgtccacctacatcaaac	9	14	2	16	0	5	1	2	0	3	1	9	1	7	1	3	0	2	0	3	0	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:80091924C>G	ENST00000398291.3	-	6	707	c.614G>C	c.(613-615)aGa>aCa	p.R205T	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	205					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TCTCTCAGATCTCTGTCCACC	0.373													5	101					0	0	0	0	G	80091924	C	G	80091924	3	3	4	1	0	0	0	0	1	0	0	0	6564	913	32	2	460	2	GNAT3	7	80091924	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	327380	80091924	79046739	140	896											
ABCB1	5243	broad.mit.edu	37	chr7	87214929	87214929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatgagaggaagtccagccCcatggatgatggcagccaaa	13	6	12	10	0	1	2	1	2	0	1	2	5	2	4	4	3	2	1	4	3	2	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:87214929C>T	ENST00000265724.3	-	5	602	c.185G>A	c.(184-186)gGg>gAg	p.G62E	ABCB1_ENST00000543898.1_Missense_Mutation_p.G62E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	62	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AAGTCCAGCCCCATGGATGAT	0.393													26	58					0	0	0	0	T	87214929	C	T	87214929	3	4	4	1	0	0	0	0	1	0	0	0	40	623	22	4	3757	4	ABCB1	7	87214929	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	7123005	87214929	71923734	141	897											
STAG3	10734	broad.mit.edu	37	chr7	99778218	99778218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagctgtgggagataccaaGagggccttgtctgcatcttc	9	10	13	9	0	2	3	0	0	2	3	3	4	2	3	2	2	3	2	2	2	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:99778218G>C	ENST00000426455.1	+	2	446	c.39G>C	c.(37-39)aaG>aaC	p.K13N	STAG3_ENST00000317296.5_Missense_Mutation_p.K13N|STAG3_ENST00000394018.2_Missense_Mutation_p.K13N			Q9UJ98	STAG3_HUMAN	stromal antigen 3	13					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGATACCAAGAGGGCCTTGT	0.522													135	276					0	0	0	0	C	99778218	G	C	99778218	3	2	4	1	0	0	0	0	1	0	0	0	15334	933	33	2	41	2	STAG3	7	99778218	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	12563289	99778218	59360445	142	898											
MUC17	140453	broad.mit.edu	37	chr7	100678729	100678729	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttaacaagtatacctgtCaacaccacactggtggccag	12	9	7	13	0	1	0	1	0	0	0	1	0	1	0	4	2	3	1	4	2	5	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:100678729C>G	ENST00000306151.4	+	3	4096	c.4032C>G	c.(4030-4032)gtC>gtG	p.V1344V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1344	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTATACCTGTCAACACCACAC	0.458													134	293					0	0	0	0	G	100678729	C	G	100678729	2	3	4	1	0	0	0	0	0	0	0	1	10044	813	29	2		2	MUC17	7	100678729	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	900511	100678729	58459934	143	899											
FBXL13	222235	broad.mit.edu	37	chr7	102665558	102665558	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaatgtcacattttagagtCtcatctacaagaaagacttc	15	12	6	8	0	3	3	2	0	2	3	5	4	3	3	0	0	1	0	0	0	5	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:102665558C>G	ENST00000393772.2	-	6	873	c.447G>C	c.(445-447)gaG>gaC	p.E149D	FBXL13_ENST00000379306.3_Missense_Mutation_p.E149D|FBXL13_ENST00000455112.2_Missense_Mutation_p.E149D|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000456695.1_Missense_Mutation_p.E149D|FBXL13_ENST00000436908.1_Missense_Mutation_p.E149D|FBXL13_ENST00000379305.3_Missense_Mutation_p.E149D|FBXL13_ENST00000313221.4_Missense_Mutation_p.E149D|FBXL13_ENST00000379308.3_Missense_Mutation_p.E149D			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	149								p.E149E(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ATTTTAGAGTCTCATCTACAA	0.333													6	36					0	0	0	0	G	102665558	C	G	102665558	3	3	4	1	0	0	0	0	1	0	0	0	5754	912	32	2	1820	2	FBXL13	7	102665558	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1986829	102665558	56473105	144	900											
ASZ1	136991	broad.mit.edu	37	chr7	117060270	117060270	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtagtagttctacacacttCaagatctgttcctctgagcc	10	13	7	11	0	4	2	1	1	3	1	5	2	5	2	2	0	2	4	2	0	4	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:117060270C>T	ENST00000284629.2	-	4	449	c.387G>A	c.(385-387)ttG>ttA	p.L129L		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	129					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTACACACTTCAAGATCTGTT	0.338													18	120					0	0	0	0	T	117060270	C	T	117060270	2	4	4	1	0	0	0	0	0	0	0	1	1073	825	29	2		2	ASZ1	7	117060270	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	14394712	117060270	42078393	145	901											
CFTR	1080	broad.mit.edu	37	chr7	117232003	117232003	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaagctgtgtctgtaaactGatggctaacaaaactaggat	15	11	9	6	0	1	1	0	1	1	0	1	2	1	2	0	2	4	3	0	2	8	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:117232003G>A	ENST00000003084.6	+	14	1914	c.1782G>A	c.(1780-1782)ctG>ctA	p.L594L	CFTR_ENST00000454343.1_Silent_p.L533L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	594	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTGTAAACTGATGGCTAACA	0.259									Cystic Fibrosis				12	108					0	0	0	0	A	117232003	G	A	117232003	2	1	4	1	0	0	0	0	0	0	0	1	3323	1277	45	2		2	CFTR	7	117232003	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	171733	117232003	41906660	146	902											
UBN2	254048	broad.mit.edu	37	chr7	138969091	138969091	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaaatcttcaggccccctCaaagctaacaaactcatcat	17	8	3	13	0	5	0	4	0	1	0	5	0	5	0	2	1	3	1	2	1	6	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:138969091C>G	ENST00000288561.8	+	15	3440	c.3191C>G	c.(3190-3192)tCa>tGa	p.S1064*	UBN2_ENST00000473989.2_Nonsense_Mutation_p.S1147*	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1147	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAGGCCCCCTCAAAGCTAACA	0.473													3	93					0	0	0	0	G	138969091	C	G	138969091	4	3	4	1	0	0	0	0	0	1	0	0	16989	838	29	2	3498	2	UBN2	7	138969091	Nonsense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	21737088	138969091	20169572	147	903											
CUL1	8454	broad.mit.edu	37	chr7	148485666	148485666	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaagcttgcgggttcgaGtacacctctaaacttcagcg	10	9	10	12	3	2	0	1	0	1	0	3	1	2	0	1	1	6	4	1	1	4	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:148485666G>C	ENST00000325222.4	+	14	1776	c.1497G>C	c.(1495-1497)gaG>gaC	p.E499D	CUL1_ENST00000602748.1_Missense_Mutation_p.E499D|CUL1_ENST00000409469.1_Missense_Mutation_p.E499D	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	499					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCGGGTTCGAGTACACCTCTA	0.398													60	120					0	0	0	0	C	148485666	G	C	148485666	3	2	4	1	0	0	0	0	1	0	0	0	4086	1020	36	4	1547	4	CUL1	7	148485666	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	9516575	148485666	10652997	148	904											
GALNTL5	168391	broad.mit.edu	37	chr7	151684344	151684344	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctgattcgagcaaggctGattggagcttctcatgcttc	7	12	13	9	1	1	2	1	2	1	0	4	4	1	3	0	3	3	5	0	3	1	4	rs140077291		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:151684344G>C	ENST00000392800.2	+	5	890	c.636G>C	c.(634-636)ctG>ctC	p.L212L	GALNTL5_ENST00000431418.2_Silent_p.L212L	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	212	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GAGCAAGGCTGATTGGAGCTT	0.468													22	69					0	0	0	0	C	151684344	G	C	151684344	2	2	4	1	0	0	0	0	0	0	0	1	6273	1277	45	2		2	GALNTL5	7	151684344	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	3198678	151684344	7454319	149	905											
NEIL2	252969	broad.mit.edu	37	chr8	11643525	11643525	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggatccatcccctttctCtcggttcagtcctgagtgcc	4	13	9	15	1	2	1	1	1	1	0	7	2	5	2	5	2	1	1	5	2	0	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:11643525C>G	ENST00000284503.6	+	5	1341	c.742C>G	c.(742-744)Ctc>Gtc	p.L248V	NEIL2_ENST00000436750.3_Missense_Mutation_p.L248V|NEIL2_ENST00000403422.3_Missense_Mutation_p.L187V|NEIL2_ENST00000455213.2_Missense_Mutation_p.L248V|NEIL2_ENST00000528323.1_Missense_Mutation_p.L132V	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	248					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TCCCCTTTCTCTCGGTTCAGT	0.552								Base excision repair (BER), DNA glycosylases					9	456					0	0	0	0	G	11643525	C	G	11643525	3	3	4	1	0	0	0	0	1	0	0	0	10389	913	32	2	761	2	NEIL2	8	11643525	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08		11643525	134720497	150	906											
PCM1	5108	broad.mit.edu	37	chr8	17817912	17817912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agaaactgattgacattcagGagaaaattcaagcattgcaa	18	9	8	6	0	2	4	2	2	0	2	2	5	2	4	0	1	3	2	0	1	5	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:17817912G>C	ENST00000325083.8	+	15	2720	c.2281G>C	c.(2281-2283)Gag>Cag	p.E761Q	PCM1_ENST00000519253.1_Missense_Mutation_p.E761Q|PCM1_ENST00000524226.1_Missense_Mutation_p.E762Q	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	761					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGACATTCAGGAGAAAATTCA	0.333			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								27	63					0	0	0	0	C	17817912	G	C	17817912	3	2	4	1	0	0	0	0	1	0	0	0	11655	1175	41	2	2331	2	PCM1	8	17817912	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	6174387	17817912	128546110	151	907											
INTS10	55174	broad.mit.edu	37	chr8	19709251	19709251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcccgctgtggagagaatCtgatggtggttctgcacagg	7	11	14	9	1	3	2	0	1	3	1	4	4	3	3	1	4	1	3	1	4	1	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:19709251C>G	ENST00000397977.3	+	17	2466	c.2068C>G	c.(2068-2070)Ctg>Gtg	p.L690V		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	690					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TGGAGAGAATCTGATGGTGGT	0.557													18	120					0	0	0	0	G	19709251	C	G	19709251	3	3	4	1	0	0	0	0	1	0	0	0	7829	912	32	2	2134	2	INTS10	8	19709251	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1891339	19709251	126654771	152	908											
FGF17	8822	broad.mit.edu	37	chr8	21900473	21900473	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgctgcccaacctcactCtgtaagtgtgctacctctcc	6	11	7	17	0	3	0	1	0	2	0	4	0	3	0	5	0	5	3	5	0	3	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:21900473C>G	ENST00000359441.3	+	1	537	c.35_splice	c.e1+1	p.L12_splice	FGF17_ENST00000518533.1_Splice_Site_p.L12_splice	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	12					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CAACCTCACTCTGTAAGTGTG	0.657													11	16					0	0	0	0	G	21900473	C	G	21900473	5	3	4	1	0	0	0	0	0	0	1	0	5890	927	32	2	36	2	FGF17	8	21900473	Splice_Site	SNP	C	TCGA-BA-4077-01B-01D-1434-08	2191222	21900473	124463549	153	909											
UNC5D	137970	broad.mit.edu	37	chr8	35631911	35631911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaattccctactccatcaGacagcggatttgtgctacat	12	11	6	12	1	1	1	1	0	0	1	3	2	3	2	2	1	4	1	2	1	4	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:35631911G>T	ENST00000287272.2	+	15	2386	c.2366G>T	c.(2365-2367)aGa>aTa	p.R789I	UNC5D_ENST00000416672.1_Missense_Mutation_p.R863I|UNC5D_ENST00000449677.1_Missense_Mutation_p.R434I|UNC5D_ENST00000420357.1_Missense_Mutation_p.R791I|UNC5D_ENST00000453357.2_Missense_Mutation_p.R853I|UNC5D_ENST00000404895.2_Missense_Mutation_p.R858I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	858					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TACTCCATCAGACAGCGGATT	0.473													32	83					1.30897e-18	1.44382e-18	1	0	T	35631911	G	T	35631911	3	4	4	1	0	0	0	0	1	0	0	0	17091	942	33	2	2635	2	UNC5D	8	35631911	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	13731438	35631911	110732111	154	910											
CPA6	57094	broad.mit.edu	37	chr8	68419035	68419035	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttacttcttttacaaacCactgacaaaaggcaggacca	16	9	5	11	0	1	1	0	1	1	0	1	2	1	2	2	2	4	1	2	2	6	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:68419035C>T	ENST00000297770.4	-	6	838	c.623G>A	c.(622-624)tGg>tAg	p.W208*	CPA6_ENST00000518549.1_Nonsense_Mutation_p.W208*|CPA6_ENST00000297769.4_Nonsense_Mutation_p.W60*	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	208					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTTTACAAACCACTGACAAAA	0.403													51	69					0	0	0	0	T	68419035	C	T	68419035	4	4	4	1	0	0	0	0	0	1	0	0	3824	595	21	4	714	4	CPA6	8	68419035	Nonsense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	32787124	68419035	77944987	155	911											
PAG1	55824	broad.mit.edu	37	chr8	81905367	81905367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctagagcacaggaagatgagGaaggtgatgacgaagaaaat	18	5	14	4	1	0	6	0	3	0	3	0	9	0	8	0	3	1	1	0	3	6	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:81905367G>A	ENST00000220597.4	-	4	806	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	32					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGAAGATGAGGAAGGTGATGA	0.542													3	56					0	0	0	0	A	81905367	G	A	81905367	2	1	4	1	0	0	0	0	0	0	0	1	11459	1165	41	2		2	PAG1	8	81905367	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	13486332	81905367	64458655	156	912											
KIAA1429	25962	broad.mit.edu	37	chr8	95507153	95507153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacatagatttcaactgatCatccatgacatcagcaagca	15	9	5	12	0	3	3	3	2	0	1	4	3	4	3	2	0	3	2	2	0	3	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:95507153C>T	ENST00000297591.5	-	20	4651	c.4576G>A	c.(4576-4578)Gat>Aat	p.D1526N	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1526					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTCAACTGATCATCCATGACA	0.318													32	359					0	0	0	0	T	95507153	C	T	95507153	3	4	4	1	0	0	0	0	1	0	0	0	8282	826	29	2	882	2	KIAA1429	8	95507153	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	13601786	95507153	50856869	157	913											
CSMD3	114788	broad.mit.edu	37	chr8	113697953	113697953	+	Frame_Shift_Del	DEL	G	G	-																															tggtgcagtaaagttagacaGgcagggaactggtgaaacag																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:113697953delG	ENST00000297405.5	-	15	2408	c.2164delC	c.(2164-2166)tgfs	p.L722fs	CSMD3_ENST00000343508.3_Frame_Shift_Del_p.L682fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.L618fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.L722fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	722	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTTAGACAGGCAGGGAACT	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			108	99	---	---	---	---					-	113697953	G	-	113697953	7	5	4	1	0	1	0	1	0	0	0	0	3978	991	35	0	9187	0	CSMD3	8	113697953	Frame_Shift_Del	DEL	G	TCGA-BA-4077-01B-01D-1434-08	18190800	113697953	32666069	158	914											
NAPRT1	93100	broad.mit.edu	37	chr8	144659478	144659478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggctgtcaggcccccatCggggccctgagcccgcctca	5	5	14	17	2	2	1	2	1	0	0	3	2	2	2	5	5	1	1	5	5	0	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:144659478C>T	ENST00000449291.2	-	4	823	c.529G>A	c.(529-531)Gat>Aat	p.D177N	NAPRT1_ENST00000276844.7_Missense_Mutation_p.D177N|NAPRT1_ENST00000435154.3_Missense_Mutation_p.D177N|NAPRT1_ENST00000426292.3_Missense_Mutation_p.D177N|RP11-661A12.9_ENST00000531730.1_RNA			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	177					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGCCCCCATCGGGGCCCTGA	0.692													16	4					0	0	0	0	T	144659478	C	T	144659478	3	4	4	1	0	0	0	0	1	0	0	0	10235	884	31	1	1127	1	NAPRT1	8	144659478	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	30961525	144659478	1704544	159	915											
JAK2	3717	broad.mit.edu	37	chr9	5029862	5029862	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatccacccaaccatgtcttCcatatagatgagtcaaccag	13	10	5	13	0	2	2	1	1	1	1	4	2	4	2	5	0	2	0	5	0	5	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:5029862C>T	ENST00000381652.3	+	4	800	c.306C>T	c.(304-306)ttC>ttT	p.F102F	JAK2_ENST00000539801.1_Silent_p.F102F	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	102	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ACCATGTCTTCCATATAGATG	0.363		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				24	252					0	0	0	0	T	5029862	C	T	5029862	2	4	4	1	0	0	0	0	0	0	0	1	7991	854	30	2		2	JAK2	9	5029862	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08		5029862	136183569	160	916											
C9orf131	138724	broad.mit.edu	37	chr9	35044713	35044713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactctctactcctctacCagagccacacattgaccttg	9	11	4	17	0	3	2	1	1	2	1	5	2	4	2	4	0	3	0	4	0	2	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:35044713C>T	ENST00000312292.5	+	2	2134	c.2087C>T	c.(2086-2088)cCa>cTa	p.P696L	C9orf131_ENST00000421362.2_Missense_Mutation_p.P648L|C9orf131_ENST00000354479.5_Missense_Mutation_p.P623L	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	696										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACTCCTCTACCAGAGCCACAC	0.552													14	84					0	0	0	0	T	35044713	C	T	35044713	3	4	4	1	0	0	0	0	1	0	0	0	2482	594	21	4	2109	4	C9orf131	9	35044713	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	30014851	35044713	106168718	161	917											
TLN1	7094	broad.mit.edu	37	chr9	35720452	35720452	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttgggggacactgagtcctCcagcatagtagactcctcat	9	11	10	11	0	1	2	1	1	0	1	4	3	4	3	3	2	1	2	3	2	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:35720452C>G	ENST00000314888.9	-	12	1614	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q	TLN1_ENST00000540444.1_Missense_Mutation_p.E421Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	421	Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGAGTCCTCCAGCATAGTA	0.488													44	461					0	0	0	0	G	35720452	C	G	35720452	3	3	4	1	0	0	0	0	1	0	0	0	16041	864	30	2	6548	2	TLN1	9	35720452	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	675739	35720452	105492979	162	918											
POLR1E	64425	broad.mit.edu	37	chr9	37503070	37503070	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagccaaagccatgaggctGaagatctccaaaagaagggt	16	6	11	8	0	1	4	0	2	1	2	2	4	1	4	3	2	2	1	3	2	6	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:37503070G>A	ENST00000377792.3	+	11	1605	c.1317G>A	c.(1315-1317)ctG>ctA	p.L439L	POLR1E_ENST00000377798.4_Silent_p.L377L|POLR1E_ENST00000442009.2_Silent_p.L307L			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	439					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCATGAGGCTGAAGATCTCCA	0.542													41	201					0	0	0	0	A	37503070	G	A	37503070	2	1	4	1	0	0	0	0	0	0	0	1	12285	1277	45	2		2	POLR1E	9	37503070	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1782618	37503070	103710361	163	919											
PRUNE2	158471	broad.mit.edu	37	chr9	79320938	79320939	+	Frame_Shift_Ins	INS	-	-	CCAT																															tcaggatatcaggattctcaINSccatctgctttcaaactgaa																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:79320938_79320939insCCAT	ENST00000428286.1	-	8	6374_6375	c.5174_5175insATGG	c.(5173-5175)ggafs	p.-1724fs	PRUNE2_ENST00000376718.3_Frame_Shift_Ins_p.-2083fs			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGGATTCTCACCATCTGCTTT	0.49													43	268	---	---	---	---					CCAT	79320939	-	CCAT	79320938	7	5	4	1	0	1	1	0	0	0	0	0	12720	146	6	0	3062	0	PRUNE2	9	79320938	Frame_Shift_Ins	INS	-	TCGA-BA-4077-01B-01D-1434-08	41817868	79320938	61892493	164	920											
S1PR3	1903	broad.mit.edu	37	chr9	91617111	91617111	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacccatccagcctgcgctCgacccaagcagaagtaaatc	12	6	7	16	2	1	1	1	0	0	1	4	2	2	1	4	0	3	3	4	0	4	1	rs138808274		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:91617111C>T	ENST00000375846.3	+	1	5691	c.996C>T	c.(994-996)ctC>ctT	p.L332L	S1PR3_ENST00000358157.2_Silent_p.L332L			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	332					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						AGCCTGCGCTCGACCCAAGCA	0.632													6	79					0	0	0	0	T	91617111	C	T	91617111	2	4	4	1	0	0	0	0	0	0	0	1	13880	871	31	1		1	S1PR3	9	91617111	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	12296173	91617111	49596320	165	921											
HABP4	22927	broad.mit.edu	37	chr9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcccgagagggggtatgCgcggcagaggcagaggtggc	8	3	22	8	3	0	3	0	0	0	3	0	5	0	3	1	7	1	3	1	7	1	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	193					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483													6	290					0	0	0	0	T	99227683	C	T	99227683	3	4	4	1	0	0	0	0	1	0	0	0	6989	768	27	1	587	1	HABP4	9	99227683	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	7610572	99227683	41985748	166	922											
TRIM14	9830	broad.mit.edu	37	chr9	100862396	100862396	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcgtcaagtagtaatctGagttcagtgaatttcccctt	9	16	7	9	1	4	2	2	2	2	0	6	2	5	2	2	0	0	3	2	0	4	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:100862396G>C	ENST00000341469.2	-	3	363	c.354C>G	c.(352-354)ctC>ctG	p.L118L	TRIM14_ENST00000342043.3_Silent_p.L118L|TRIM14_ENST00000375098.3_Silent_p.L118L	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	118						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GTAGTAATCTGAGTTCAGTGA	0.443													48	238					0	0	0	0	C	100862396	G	C	100862396	2	2	4	1	0	0	0	0	0	0	0	1	16584	1277	45	2		2	TRIM14	9	100862396	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1634713	100862396	40351035	167	923											
ANKS6	203286	broad.mit.edu	37	chr9	101540657	101540657	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcccacggggcagcgtcTgcatcagtttgagctttcgg	7	9	13	12	3	2	1	1	1	1	0	3	1	2	1	1	3	4	4	1	3	0	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:101540657T>C	ENST00000353234.4	-	7	1465	c.1418A>G	c.(1417-1419)cAg>cGg	p.Q473R	ANKS6_ENST00000375018.1_Missense_Mutation_p.Q473R|ANKS6_ENST00000375019.2_Missense_Mutation_p.Q172R|ANKS6_ENST00000540940.1_Missense_Mutation_p.Q278R			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	473										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGGCAGCGTCTGCATCAGTTT	0.587													31	38					0	0	0	0	C	101540657	T	C	101540657	3	2	4	1	0	0	0	0	1	0	0	0	691	1580	55	5	1233	5	ANKS6	9	101540657	Missense_Mutation	SNP	T	TCGA-BA-4077-01B-01D-1434-08	678261	101540657	39672774	168	924											
SVEP1	79987	broad.mit.edu	37	chr9	113243615	113243615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtagacccttctgtgaaatCatagccctccaagcaagtta	13	10	7	11	0	2	2	1	1	1	1	3	2	3	2	3	0	2	3	3	0	6	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:113243615C>T	ENST00000401783.2	-	12	2608	c.2272G>A	c.(2272-2274)Gat>Aat	p.D758N	SVEP1_ENST00000374469.1_Missense_Mutation_p.D735N|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D758N|SVEP1_ENST00000374461.1_Missense_Mutation_p.D735N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	758	Sushi 4.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTGTGAAATCATAGCCCTCC	0.413													6	45					0	0	0	0	T	113243615	C	T	113243615	3	4	4	1	0	0	0	0	1	0	0	0	15510	826	29	2	8591	2	SVEP1	9	113243615	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	11702958	113243615	27969816	169	925											
UGCG	7357	broad.mit.edu	37	chr9	114695273	114695273	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagaggaaatcctagatgTataactacagctttgtgact	14	11	9	7	0	0	3	0	1	0	2	1	4	1	4	1	1	4	3	1	1	5	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:114695273T>A	ENST00000374279.3	+	9	1631	c.1181T>A	c.(1180-1182)gTa>gAa	p.V394E		NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	394					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	ATCCTAGATGTATAACTACAG	0.333													33	94					0	0	0	0	A	114695273	T	A	114695273	3	1	4	1	0	0	0	0	1	0	0	0	17035	1638	57	5	1215	5	UGCG	9	114695273	Missense_Mutation	SNP	T	TCGA-BA-4077-01B-01D-1434-08	1451658	114695273	26518158	170	926											
TLR4	7099	broad.mit.edu	37	chr9	120476116	120476116	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagcattttccaagtagTctagctttcttaaatcttac	11	16	4	10	0	3	0	0	0	3	0	4	0	4	0	1	0	4	3	1	0	7	8			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:120476116T>C	ENST00000355622.6	+	3	1811	c.1710T>C	c.(1708-1710)agT>agC	p.S570S	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.S530S	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	570					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTCCAAGTAGTCTAGCTTTCT	0.413													73	60					0	0	0	0	C	120476116	T	C	120476116	2	2	4	1	0	0	0	0	0	0	0	1	16047	1664	58	5		5	TLR4	9	120476116	Silent	SNP	T	TCGA-BA-4077-01B-01D-1434-08	5780843	120476116	20737315	171	927											
LHX6	26468	broad.mit.edu	37	chr9	124979413	124979413	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgcggcagagcaccttctCctcgaccaggccgaactcct	8	7	10	16	3	1	1	0	0	1	1	4	4	2	1	5	2	3	2	5	2	1	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:124979413C>G	ENST00000394319.4	-	5	720	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000373754.2_Missense_Mutation_p.E177Q|LHX6_ENST00000340587.3_Missense_Mutation_p.E206Q|LHX6_ENST00000373755.2_Missense_Mutation_p.E177Q|LHX6_ENST00000541397.2_Missense_Mutation_p.E195Q	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	177					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						AGCACCTTCTCCTCGACCAGG	0.647													19	108					0	0	0	0	G	124979413	C	G	124979413	3	3	4	1	0	0	0	0	1	0	0	0	8829	864	30	2	645	2	LHX6	9	124979413	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	4503297	124979413	16234018	172	928											
RABGAP1	23637	broad.mit.edu	37	chr9	125772653	125772653	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaagcaaagggagagaaaGaataatactgacactttata	21	8	8	4	0	0	3	0	1	0	2	0	5	0	4	0	1	2	1	0	1	9	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:125772653G>C	ENST00000373647.4	+	11	1529	c.1395G>C	c.(1393-1395)aaG>aaC	p.K465N		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	465					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GGGAGAGAAAGAATAATACTG	0.318													33	128					0	0	0	0	C	125772653	G	C	125772653	3	2	4	1	0	0	0	0	1	0	0	0	13046	933	33	2	1433	2	RABGAP1	9	125772653	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	793240	125772653	15440778	173	929											
ANGPTL2	23452	broad.mit.edu	37	chr9	129856193	129856193	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagggcctgcaggcagTctctccatgggcctggggac	5	7	14	15	0	1	0	0	0	1	0	4	1	3	1	5	5	1	2	5	5	0	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:129856193T>A	ENST00000373425.3	-	3	1447	c.830A>T	c.(829-831)gAc>gTc	p.D277V	RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_5'UTR|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	277	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CTGCAGGCAGTCTCTCCATGG	0.617													38	103					0	0	0	0	A	129856193	T	A	129856193	3	1	4	1	0	0	0	0	1	0	0	0	614	1667	58	5	663	5	ANGPTL2	9	129856193	Missense_Mutation	SNP	T	TCGA-BA-4077-01B-01D-1434-08	4083540	129856193	11357238	174	930											
LRSAM1	90678	broad.mit.edu	37	chr9	130253536	130253536	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tattgcagctgacacagctgGagttaaagaggaagtccctg	12	9	12	8	0	0	2	0	1	0	1	1	4	1	4	1	2	3	4	1	2	4	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:130253536G>C	ENST00000323301.4	+	19	2069	c.1465G>C	c.(1465-1467)Gag>Cag	p.E489Q	LRSAM1_ENST00000300417.6_Missense_Mutation_p.E489Q|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E489Q|LRSAM1_ENST00000373324.4_Intron|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	489					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GACACAGCTGGAGTTAAAGAG	0.483													11	95					0	0	0	0	C	130253536	G	C	130253536	3	2	4	1	0	0	0	0	1	0	0	0	9107	1175	41	2	1535	2	LRSAM1	9	130253536	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	397343	130253536	10959895	175	931											
ZER1	10444	broad.mit.edu	37	chr9	131515013	131515013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctctaggatcatgtggcCagagatgtccagggacatta	10	11	12	8	0	2	1	1	0	1	1	4	4	3	3	2	3	0	1	2	3	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:131515013C>T	ENST00000291900.2	-	5	1268	c.862G>A	c.(862-864)Ggc>Agc	p.G288S		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	288					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						ATCATGTGGCCAGAGATGTCC	0.577													3	78					0	0	0	0	T	131515013	C	T	131515013	3	4	4	1	0	0	0	0	1	0	0	0	17720	594	21	4	1486	4	ZER1	9	131515013	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1261477	131515013	9698418	176	932											
PHYHD1	254295	broad.mit.edu	37	chr9	131704017	131704017	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcgcagggcaggagccctCgcccctcccgggtgaagctg	5	6	14	16	3	1	1	0	1	1	0	4	2	2	2	4	3	2	3	4	3	1	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:131704017C>T	ENST00000308941.5	+	12	1299	c.879C>T	c.(877-879)ctC>ctT	p.L293L	RP11-101E3.5_ENST00000482796.1_Intron|PHYHD1_ENST00000372592.3_3'UTR|PHYHD1_ENST00000421063.2_3'UTR|PHYHD1_ENST00000353176.5_3'UTR	NM_174933.3	NP_777593.2			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						CAGGAGCCCTCGCCCCTCCCG	0.592													27	107					0	0	0	0	T	131704017	C	T	131704017	2	4	4	1	0	0	0	0	0	0	0	1	11937	871	31	1		1	PHYHD1	9	131704017	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	189004	131704017	9509414	177	933											
TUBAL3	79861	broad.mit.edu	37	chr10	5435546	5435546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcttccctggcctccaaGaactctgcttcttccatgcc	7	12	6	16	0	3	2	0	0	3	2	6	2	6	2	5	1	3	1	5	1	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:5435546G>C	ENST00000380419.3	-	4	1312	c.1275C>G	c.(1273-1275)ttC>ttG	p.F425L	TUBAL3_ENST00000479328.1_Missense_Mutation_p.F385L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	425					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TGGCCTCCAAGAACTCTGCTT	0.532													12	92					0	0	0	0	C	5435546	G	C	5435546	3	2	4	1	0	0	0	0	1	0	0	0	16847	933	33	2	69	2	TUBAL3	10	5435546	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08		5435546	130099201	178	934											
TUBAL3	79861	broad.mit.edu	37	chr10	5437411	5437411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgctcggggtggaagagtGaacggtgctggcccgtccgg	5	7	19	10	4	0	2	0	1	0	1	2	3	1	3	2	6	3	3	2	6	2	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:5437411G>A	ENST00000380419.3	-	3	312	c.275C>T	c.(274-276)tCa>tTa	p.S92L	TUBAL3_ENST00000479328.1_Missense_Mutation_p.S52L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	92					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GTGGAAGAGTGAACGGTGCTG	0.592													32	225					0	0	0	0	A	5437411	G	A	5437411	3	1	4	1	0	0	0	0	1	0	0	0	16847	1294	45	2	1073	2	TUBAL3	10	5437411	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1865	5437411	130097336	179	935											
STAM	8027	broad.mit.edu	37	chr10	17730107	17730107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaatgatccacagcttagtCtaatatcagcaatgattaag	16	11	7	7	0	2	3	1	2	1	1	3	3	3	3	1	0	2	2	1	0	6	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:17730107C>G	ENST00000377524.3	+	5	594	c.379C>G	c.(379-381)Cta>Gta	p.L127V	STAM_ENST00000540523.1_Missense_Mutation_p.L16V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	127	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						ACAGCTTAGTCTAATATCAGC	0.363													11	256					0	0	0	0	G	17730107	C	G	17730107	3	3	4	1	0	0	0	0	1	0	0	0	15338	912	32	2	397	2	STAM	10	17730107	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	12292696	17730107	117804640	180	936											
PTCHD3	374308	broad.mit.edu	37	chr10	27700799	27700799	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaggtgaaacacagggatCacagtcacagaagttgcctc	13	6	11	11	0	2	2	2	1	0	1	3	3	2	3	2	2	2	1	2	2	2	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:27700799C>T	ENST00000438700.3	-	2	1266	c.1149G>A	c.(1147-1149)gtG>gtA	p.V383V		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	383	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ACACAGGGATCACAGTCACAG	0.358													10	58					0	0	0	0	T	27700799	C	T	27700799	2	4	4	1	0	0	0	0	0	0	0	1	12813	813	29	2		2	PTCHD3	10	27700799	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	9970692	27700799	107833948	181	937											
KIAA1279	26128	broad.mit.edu	37	chr10	70748834	70748834	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggctgaggtggtggaGcccgaggggcccgtcgccca	4	5	18	14	4	0	1	0	1	0	0	1	3	0	2	4	6	2	1	4	6	0	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:70748834G>C	ENST00000361983.4	+	1	348	c.246G>C	c.(244-246)gaG>gaC	p.E82D		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	82					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						AGGTGGTGGAGCCCGAGGGGC	0.731													3	46					0	0	0	0	C	70748834	G	C	70748834	3	2	4	1	0	0	0	0	1	0	0	0	8272	962	34	4	248	4	KIAA1279	10	70748834	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	43048035	70748834	64785913	182	938											
KIAA1279	26128	broad.mit.edu	37	chr10	70775627	70775627	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattctttgaaactgacatgGagagacggtgcaagatgcat	13	10	11	7	1	1	4	0	2	1	2	1	6	1	5	0	2	3	2	0	2	2	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:70775627G>T	ENST00000361983.4	+	7	1423	c.1321G>T	c.(1321-1323)Gag>Tag	p.E441*		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	441					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						AACTGACATGGAGAGACGGTG	0.433													64	127					6.56249e-45	7.38701e-45	1	0	T	70775627	G	T	70775627	4	4	4	1	0	0	0	0	0	1	0	0	8272	1175	41	2	1347	2	KIAA1279	10	70775627	Nonsense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	26793	70775627	64759120	183	939											
SEC24C	9632	broad.mit.edu	37	chr10	75529650	75529650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaactgtgtgttgaaGagtgatgtcctgcagcctgg	8	12	13	8	0	0	4	0	3	0	1	1	4	1	4	3	1	4	2	3	1	3	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:75529650G>T	ENST00000339365.2	+	21	2901	c.2739G>T	c.(2737-2739)aaG>aaT	p.K913N	SEC24C_ENST00000345254.4_Missense_Mutation_p.K913N|SEC24C_ENST00000535742.1_Missense_Mutation_p.K161N|SEC24C_ENST00000411652.2_Missense_Mutation_p.K794N|SEC24C_ENST00000540668.1_Missense_Mutation_p.K161N|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	913					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GTGTGTTGAAGAGTGATGTCC	0.463													46	266					1.56793e-16	1.71224e-16	1	0	T	75529650	G	T	75529650	3	4	4	1	0	0	0	0	1	0	0	0	14083	933	33	2	2813	2	SEC24C	10	75529650	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	4754023	75529650	60005097	184	940											
POLR3A	11128	broad.mit.edu	37	chr10	79753020	79753020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccctccatagctgcaggatCtaagccatctcctccataaa	11	10	5	15	0	2	0	0	0	2	0	6	1	5	1	5	1	3	2	5	1	4	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:79753020C>G	ENST00000372371.3	-	20	2859	c.2722G>C	c.(2722-2724)Gat>Cat	p.D908H		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	908					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCTGCAGGATCTAAGCCATCT	0.413													19	228					0	0	0	0	G	79753020	C	G	79753020	3	3	4	1	0	0	0	0	1	0	0	0	12300	913	32	2	1498	2	POLR3A	10	79753020	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	4223370	79753020	55781727	185	941											
LRIT2	340745	broad.mit.edu	37	chr10	85982250	85982250	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caatgtaggcattgccctccGaggggatggaaagagaatca	13	7	13	8	1	1	1	1	0	0	1	2	5	2	3	2	4	1	2	2	4	4	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:85982250G>C	ENST00000372113.4	-	3	1084	c.1079C>G	c.(1078-1080)tCg>tGg	p.S360W	LRIT2_ENST00000538192.1_Missense_Mutation_p.S370W	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	360						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						ATTGCCCTCCGAGGGGATGGA	0.552													3	61					0	0	0	0	C	85982250	G	C	85982250	3	2	4	1	0	0	0	0	1	0	0	0	9012	1059	37	3	577	3	LRIT2	10	85982250	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	6229230	85982250	49552497	186	942											
WAPAL	23063	broad.mit.edu	37	chr10	88260338	88260338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggagatatttctgatggtGattctggccttttcccaaac	8	16	9	8	0	2	3	0	2	2	1	3	4	3	3	2	3	1	0	2	3	2	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:88260338G>A	ENST00000298767.5	-	3	1134	c.662C>T	c.(661-663)tCa>tTa	p.S221L		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	221	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTCTGATGGTGATTCTGGCCT	0.373													39	335					0	0	0	0	A	88260338	G	A	88260338	3	1	4	1	0	0	0	0	1	0	0	0	17344	1294	45	2	2978	2	WAPAL	10	88260338	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2278088	88260338	47274409	187	943											
RPP30	10556	broad.mit.edu	37	chr10	92655643	92655643	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattttatttcagcctttaGaaataagagggccatatgac	13	14	7	7	0	2	3	2	1	0	2	2	3	2	3	2	1	1	0	2	1	5	7			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:92655643G>C	ENST00000413330.1	+	9	621	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	RPP30_ENST00000371703.3_Missense_Mutation_p.E196Q|RPP30_ENST00000489806.1_3'UTR	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	196					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						TCAGCCTTTAGAAATAAGAGG	0.274													15	127					0	0	0	0	C	92655643	G	C	92655643	3	2	4	1	0	0	0	0	1	0	0	0	13697	943	33	2	620	2	RPP30	10	92655643	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	4395305	92655643	42879104	188	944											
PHRF1	57661	broad.mit.edu	37	chr11	607897	607897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagaggaaggagaacccctCacccctcttctccatcaaga	12	6	8	15	0	4	3	2	0	2	3	5	5	4	4	5	2	1	1	5	2	3	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:607897C>T	ENST00000264555.5	+	14	2569	c.2441C>T	c.(2440-2442)tCa>tTa	p.S814L	PHRF1_ENST00000533464.1_Missense_Mutation_p.S810L|PHRF1_ENST00000416188.2_Missense_Mutation_p.S813L|PHRF1_ENST00000413872.2_Missense_Mutation_p.S812L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	814							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAGAACCCCTCACCCCTCTTC	0.617													8	145					0	0	0	0	T	607897	C	T	607897	3	4	4	1	0	0	0	0	1	0	0	0	11933	838	29	2	2488	2	PHRF1	11	607897	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08		607897	134398619	189	945											
DEAF1	10522	broad.mit.edu	37	chr11	687928	687928	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctgagccgagcctgttcTtgtacagagtgccgctgatg	7	10	12	12	2	1	3	0	2	1	1	1	4	1	3	4	0	4	3	4	0	1	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:687928T>A	ENST00000382409.3	-	4	1131	c.647A>T	c.(646-648)aAg>aTg	p.K216M	DEAF1_ENST00000338675.6_Missense_Mutation_p.K216M	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	216	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GAGCCTGTTCTTGTACAGAGT	0.522													17	84					0	0	0	0	A	687928	T	A	687928	3	1	4	1	0	0	0	0	1	0	0	0	4412	1609	56	5	1086	5	DEAF1	11	687928	Missense_Mutation	SNP	T	TCGA-BA-4077-01B-01D-1434-08	80031	687928	134318588	190	946											
TRPM5	29850	broad.mit.edu	37	chr11	2434782	2434782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaggatgggcgtgcctgCggccatgtccccccaccaga	6	5	13	17	3	0	1	0	0	0	1	1	2	1	2	7	3	2	1	7	3	0	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:2434782C>T	ENST00000452833.1	-	13	1941	c.1933G>A	c.(1933-1935)Gca>Aca	p.A645T	TRPM5_ENST00000533060.1_Missense_Mutation_p.A643T|TRPM5_ENST00000155858.6_Missense_Mutation_p.A643T|TRPM5_ENST00000528453.1_Missense_Mutation_p.A643T			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	643						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCGTGCCTGCGGCCATGTCC	0.647													6	31					0	0	0	0	T	2434782	C	T	2434782	3	4	4	1	0	0	0	0	1	0	0	0	16684	768	27	1	1618	1	TRPM5	11	2434782	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1746854	2434782	132571734	191	947											
OR51T1	401665	broad.mit.edu	37	chr11	4904108	4904108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggtcttaggggaagatggGattgaaggtaggaaattgtc	11	10	18	2	0	1	2	0	1	1	1	2	5	1	5	0	7	0	1	0	7	5	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:4904108G>A	ENST00000380378.1	+	1	1060	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	OR51T1_ENST00000322049.1_Missense_Mutation_p.D327N|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAAGATGGGATTGAAGGTA	0.468													13	84					0	0	0	0	A	4904108	G	A	4904108	3	1	4	1	0	0	0	0	1	0	0	0	11177	1174	41	2	1062	2	OR51T1	11	4904108	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2469326	4904108	130102408	192	948											
OR51L1	119682	broad.mit.edu	37	chr11	5020494	5020494	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggttggatgctccagagatCcaggcaagtgcttgctatgc	8	11	13	9	0	0	1	0	0	0	1	2	3	2	2	2	3	4	5	2	3	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:5020494C>T	ENST00000321543.1	+	1	282	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	94					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)		CTCCAGAGATCCAGGCAAGTG	0.478													98	192					0	0	0	0	T	5020494	C	T	5020494	2	4	4	1	0	0	0	0	0	0	0	1	11173	845	30	2		2	OR51L1	11	5020494	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	116386	5020494	129986022	193	949											
NRIP3	56675	broad.mit.edu	37	chr11	9009738	9009744	+	Frame_Shift_Del	DEL	TTCGTCT	TTCGTCT	-																															acttagcctgattgagtttgTtcgtcttagaggcccaaggg																								rs150007282		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:9009738_9009744delTTCGTCT	ENST00000309166.3	-	2	373_379	c.260_266delAGACGAA	c.(259-267)acfs	p.KTN87fs	NRIP3_ENST00000531090.1_Frame_Shift_Del_p.KTN87fs	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	87					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		ATTGAGTTTGTTCGTCTTAGAGGCCCA	0.483													57	208	---	---	---	---					-	9009744	TTCGTCT	-	9009738	7	5	4	1	0	1	0	1	0	0	0	0	10725	1725	60	0	483	0	NRIP3	11	9009738	Frame_Shift_Del	DEL	TTCGTCT	TCGA-BA-4077-01B-01D-1434-08	3989244	9009738	125996778	194	950											
SWAP70	23075	broad.mit.edu	37	chr11	9735026	9735026	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttaggtccaagacaactTtgacaagattgaattcaata	15	14	6	6	0	1	4	1	2	0	2	2	4	2	4	1	1	1	0	1	1	7	7			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:9735026T>C	ENST00000318950.6	+	3	357	c.254T>C	c.(253-255)tTt>tCt	p.F85S	SWAP70_ENST00000447399.2_Intron	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	85						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		CAAGACAACTTTGACAAGATT	0.358													47	86					0	0	0	0	C	9735026	T	C	9735026	3	2	4	1	0	0	0	0	1	0	0	0	15515	1841	64	5	264	5	SWAP70	11	9735026	Missense_Mutation	SNP	T	TCGA-BA-4077-01B-01D-1434-08	725288	9735026	125271490	195	951											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077743	19077743	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcggccccggccaggctGaggacgtagacagagaaggc	11	3	16	11	3	0	3	0	1	0	2	1	5	0	4	3	5	0	2	3	5	3	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:19077743G>T	ENST00000329773.2	-	2	294	c.207C>A	c.(205-207)ctC>ctA	p.L69L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	69					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CGGCCAGGCTGAGGACGTAGA	0.537													13	123					6.31663e-08	6.60238e-08	1	0	T	19077743	G	T	19077743	2	4	4	1	0	0	0	0	0	0	0	1	9837	1277	45	2		2	MRGPRX2	11	19077743	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	9342717	19077743	115928773	196	952											
CCDC73	493860	broad.mit.edu	37	chr11	32675537	32675537	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttacctgtttttcttctTgaatatgggtaatctcttca	7	20	6	8	0	4	1	1	1	3	0	5	1	4	1	1	1	2	3	1	1	4	8			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:32675537T>G	ENST00000335185.5	-	11	864	c.821A>C	c.(820-822)cAa>cCa	p.Q274P	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	274										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTTTCTTCTTGAATATGGGT	0.259													12	25					0	0	0	0	G	32675537	T	G	32675537	3	3	4	1	0	0	0	0	1	0	0	0	2873	1812	63	5	2450	5	CCDC73	11	32675537	Missense_Mutation	SNP	T	TCGA-BA-4077-01B-01D-1434-08	13597794	32675537	102330979	197	953											
TTC17	55761	broad.mit.edu	37	chr11	43419614	43419614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctataaagaggaagcatGctgtcctatgtcagcaaaaa	17	8	9	7	0	1	1	1	0	0	1	2	2	2	2	1	1	4	4	1	1	8	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:43419614G>A	ENST00000039989.4	+	8	1023	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	TTC17_ENST00000299240.6_Missense_Mutation_p.A337T|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	337							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GAGGAAGCATGCTGTCCTATG	0.453													31	74					0	0	0	0	A	43419614	G	A	43419614	3	1	4	1	0	0	0	0	1	0	0	0	16780	1319	46	4	1039	4	TTC17	11	43419614	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	10744077	43419614	91586902	198	954											
AHNAK	79026	broad.mit.edu	37	chr11	62286923	62286923	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaggtgacttgatgtcaGctttggggctttttgcccca	6	14	13	8	0	1	3	1	3	0	0	1	3	1	3	2	3	2	2	2	3	1	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:62286923G>C	ENST00000378024.4	-	5	15240	c.14966C>G	c.(14965-14967)gCt>gGt	p.A4989G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4989					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGATGTCAGCTTTGGGGCT	0.453													12	203					0	0	0	0	C	62286923	G	C	62286923	3	2	4	1	0	0	0	0	1	0	0	0	414	971	34	4	2826	4	AHNAK	11	62286923	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	18867309	62286923	72719593	199	955											
SLC3A2	6520	broad.mit.edu	37	chr11	62656097	62656097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgtgaggagggctcccctCttgagctggaacgcctgaaa	8	7	14	12	2	1	3	0	3	1	0	2	5	2	5	4	3	2	2	4	3	2	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:62656097C>G	ENST00000377892.1	+	13	2142	c.1918C>G	c.(1918-1920)Ctt>Gtt	p.L640V	SLC3A2_ENST00000377889.2_Missense_Mutation_p.L547V|SLC3A2_ENST00000536981.1_Missense_Mutation_p.L154V|SLC3A2_ENST00000338663.7_Missense_Mutation_p.L508V|SLC3A2_ENST00000535296.1_Missense_Mutation_p.L578V|SLC3A2_ENST00000377890.2_Missense_Mutation_p.L609V|SLC3A2_ENST00000377891.2_Missense_Mutation_p.L610V			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	609					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GGGCTCCCCTCTTGAGCTGGA	0.667													63	119					0	0	0	0	G	62656097	C	G	62656097	3	3	4	1	0	0	0	0	1	0	0	0	14715	913	32	2	1971	2	SLC3A2	11	62656097	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	369174	62656097	72350419	200	956											
PPFIA1	8500	broad.mit.edu	37	chr11	70170534	70170534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcacttactaaagaactCaatgtatgcagggaacagct	15	8	9	9	0	1	1	1	0	0	1	1	2	1	2	0	1	6	5	0	1	7	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:70170534C>T	ENST00000253925.7	+	3	506	c.291C>T	c.(289-291)ctC>ctT	p.L97L	PPFIA1_ENST00000389547.3_Silent_p.L97L|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	97					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTAAAGAACTCAATGTATGCA	0.403													20	341					0	0	0	0	T	70170534	C	T	70170534	2	4	4	1	0	0	0	0	0	0	0	1	12380	813	29	2		2	PPFIA1	11	70170534	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	7514437	70170534	64835982	201	957											
EED	8726	broad.mit.edu	37	chr11	85979511	85979511	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcaggccatttatttctCagaaaatccattttcctgat	10	16	4	11	0	2	2	2	1	1	1	5	2	4	2	4	1	0	0	4	1	3	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:85979511C>T	ENST00000263360.6	+	9	1560	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	EED_ENST00000351625.6_Nonsense_Mutation_p.Q292*|EED_ENST00000327320.4_Nonsense_Mutation_p.Q292*|EED_ENST00000528180.1_Intron	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	292	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				ATTTATTTCTCAGAAAATCCA	0.299													71	71					0	0	0	0	T	85979511	C	T	85979511	4	4	4	1	0	0	0	0	0	1	0	0	4958	827	29	2	908	2	EED	11	85979511	Nonsense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	15808977	85979511	49027005	202	958											
GRM5	2915	broad.mit.edu	37	chr11	88300894	88300894	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagctcatggctggggagaGaccaatgccaattctctgaa	11	9	12	9	0	2	2	1	1	1	1	3	4	2	3	2	3	2	3	2	3	4	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:88300894G>C	ENST00000418177.2	-	8	2324	c.1957C>G	c.(1957-1959)Ctc>Gtc	p.L653V	GRM5_ENST00000393297.1_Missense_Mutation_p.L653V|GRM5_ENST00000305447.4_Missense_Mutation_p.L653V|GRM5_ENST00000455756.2_Missense_Mutation_p.L653V|GRM5_ENST00000305432.5_Missense_Mutation_p.L653V			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	653					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCTGGGGAGAGACCAATGCCA	0.493													16	12					0	0	0	0	C	88300894	G	C	88300894	3	2	4	1	0	0	0	0	1	0	0	0	6850	942	33	2	1693	2	GRM5	11	88300894	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2321383	88300894	46705622	203	959											
CBL	867	broad.mit.edu	37	chr11	119103214	119103214	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaatagcccaccttatatCttagacctgctaccagatac	14	10	5	12	0	1	3	0	0	1	3	1	3	1	3	4	0	4	1	4	0	8	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:119103214C>T	ENST00000264033.4	+	2	628	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	84	4H.|Cbl-PTB.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CACCTTATATCTTAGACCTGC	0.428			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				7	67					0	0	0	0	T	119103214	C	T	119103214	2	4	4	1	0	0	0	0	0	0	0	1	2725	903	32	2		2	CBL	11	119103214	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	30802320	119103214	15903302	204	960											
TECTA	7007	broad.mit.edu	37	chr11	120998984	120998984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaggacctgcttggctGcggggacttcggatcctggt	5	10	16	10	2	0	0	0	0	0	0	2	4	1	3	2	6	3	3	2	6	0	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:120998984G>A	ENST00000392793.1	+	9	2569	c.2298G>A	c.(2296-2298)ctG>ctA	p.L766L	TECTA_ENST00000264037.2_Silent_p.L766L			O75443	TECTA_HUMAN	tectorin alpha	766	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGCTTGGCTGCGGGGACTTC	0.587													21	63					0	0	0	0	A	120998984	G	A	120998984	2	1	4	1	0	0	0	0	0	0	0	1	15841	1306	46	4		4	TECTA	11	120998984	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1895770	120998984	14007532	205	961											
SLC6A13	6540	broad.mit.edu	37	chr12	351877	351877	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaacacaatgatgtagtaGacgttgaggaggatgacgat	14	8	13	6	2	0	4	0	3	0	1	0	7	0	6	1	2	1	3	1	2	4	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:351877G>C	ENST00000343164.4	-	4	433	c.381C>G	c.(379-381)gtC>gtG	p.V127V	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	127					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TGATGTAGTAGACGTTGAGGA	0.577													4	11					0	0	0	0	C	351877	G	C	351877	2	2	4	1	0	0	0	0	0	0	0	1	14764	929	33	2		2	SLC6A13	12	351877	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08		351877	133500018	206	962											
CD163L1	283316	broad.mit.edu	37	chr12	7556331	7556331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgcttacaaaccacaaggGcttgttcattcttccagttc	9	13	7	12	0	2	0	1	0	1	0	4	0	3	0	2	1	3	5	2	1	3	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:7556331G>A	ENST00000313599.3	-	6	1265	c.1208C>T	c.(1207-1209)gCc>gTc	p.A403V	CD163L1_ENST00000396630.1_Missense_Mutation_p.A403V|CD163L1_ENST00000416109.2_Missense_Mutation_p.A413V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	403	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AACCACAAGGGCTTGTTCATT	0.443													86	137					0	0	0	0	A	7556331	G	A	7556331	3	1	4	1	0	0	0	0	1	0	0	0	2997	1203	42	4	3209	4	CD163L1	12	7556331	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	7204454	7556331	126295564	207	963											
FOXJ2	55810	broad.mit.edu	37	chr12	8196363	8196363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagacaccctccagatgatGatgtaagttcccagctcatg	12	9	9	11	0	1	4	1	2	0	2	3	5	3	4	3	0	1	3	3	0	2	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:8196363G>A	ENST00000162391.3	+	4	1620	c.475G>A	c.(475-477)Gat>Aat	p.D159N	FOXJ2_ENST00000428177.2_Missense_Mutation_p.D159N	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	159					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCCAGATGATGATGTAAGTTC	0.493													19	268					0	0	0	0	A	8196363	G	A	8196363	3	1	4	1	0	0	0	0	1	0	0	0	6059	1290	45	2	485	2	FOXJ2	12	8196363	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	640032	8196363	125655532	208	964											
KLRG1	10219	broad.mit.edu	37	chr12	9161668	9161668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatcacctctaaacttctCaaggtaaggggcttcaaagg	12	10	10	9	0	4	0	3	0	2	0	5	1	4	1	1	5	1	2	1	5	5	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:9161668C>T	ENST00000266551.4	+	4	470	c.455C>T	c.(454-456)tCa>tTa	p.S152L	KLRG1_ENST00000356986.3_Missense_Mutation_p.S152L|KLRG1_ENST00000538029.1_3'UTR	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	152	C-type lectin.				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						CTAAACTTCTCAAGGTAAGGG	0.443													18	24					0	0	0	0	T	9161668	C	T	9161668	3	4	4	1	0	0	0	0	1	0	0	0	8473	838	29	2	469	2	KLRG1	12	9161668	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	965305	9161668	124690227	209	965											
LRP6	4040	broad.mit.edu	37	chr12	12312019	12312019	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggctccagtccgtccagtaGatataatcttggtactgagt	9	12	10	10	2	1	2	0	1	1	1	4	2	4	2	3	2	1	3	3	2	4	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:12312019G>C	ENST00000261349.4	-	12	2611	c.2535C>G	c.(2533-2535)atC>atG	p.I845M	LRP6_ENST00000543091.1_Missense_Mutation_p.I845M	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	845	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCGTCCAGTAGATATAATCTT	0.483													16	41					0	0	0	0	C	12312019	G	C	12312019	3	2	4	1	0	0	0	0	1	0	0	0	9026	932	33	2	2354	2	LRP6	12	12312019	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	3150351	12312019	121539876	210	966											
ATF7IP	55729	broad.mit.edu	37	chr12	14649234	14649234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actaaccctgggatcaacagGacctcagctcacagtgcatc	12	7	8	14	0	3	0	3	0	0	0	4	2	3	2	2	2	4	2	2	2	2	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:14649234G>A	ENST00000544627.1	+	14	3694	c.3374G>A	c.(3373-3375)gGa>gAa	p.G1125E	ATF7IP_ENST00000536444.1_Missense_Mutation_p.G1116E|ATF7IP_ENST00000540793.1_Missense_Mutation_p.G1117E|ATF7IP_ENST00000261168.4_Missense_Mutation_p.G1117E			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1117					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GGATCAACAGGACCTCAGCTC	0.388													16	33					0	0	0	0	A	14649234	G	A	14649234	3	1	4	1	0	0	0	0	1	0	0	0	1091	1174	41	2	3400	2	ATF7IP	12	14649234	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2337215	14649234	119202661	211	967											
PDE3A	5139	broad.mit.edu	37	chr12	20806970	20806970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccttcaggaatccttcatCtctcacattgtggggcctct	8	13	7	13	0	5	0	3	0	2	0	7	1	6	1	3	3	1	0	3	3	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:20806970C>G	ENST00000359062.3	+	15	3055	c.3015C>G	c.(3013-3015)atC>atG	p.I1005M	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1005	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AATCCTTCATCTCTCACATTG	0.498													11	75					0	0	0	0	G	20806970	C	G	20806970	3	3	4	1	0	0	0	0	1	0	0	0	11708	903	32	2	3073	2	PDE3A	12	20806970	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	6157736	20806970	113044925	212	968											
CACNB3	784	broad.mit.edu	37	chr12	49219528	49219528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaggaccatcattgagCgctcctctgcccgctccagc	8	7	10	16	2	2	2	1	1	1	1	4	3	4	3	4	1	3	3	4	1	1	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:49219528C>T	ENST00000301050.2	+	9	917	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	CACNB3_ENST00000536187.2_Missense_Mutation_p.R239C|CACNB3_ENST00000547392.1_Missense_Mutation_p.R213C|CACNB3_ENST00000547230.1_Missense_Mutation_p.R199C|CACNB3_ENST00000540990.1_Missense_Mutation_p.R227C	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	240					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CATCATTGAGCGCTCCTCTGC	0.572													20	77					0	0	0	0	T	49219528	C	T	49219528	3	4	4	1	0	0	0	0	1	0	0	0	2579	768	27	1	752	1	CACNB3	12	49219528	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	28412558	49219528	84632367	213	969											
TFCP2	7024	broad.mit.edu	37	chr12	51504737	51504739	+	In_Frame_Del	DEL	GAT	GAT	-																															ttgagttggattagccctagGatcgattatacccacagaca																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:51504737_51504739delGAT	ENST00000307660.4	-	5	1205_1207	c.485_487delATC	c.(484-489)gct>g	p.DP162del	TFCP2_ENST00000549867.1_In_Frame_Del_p.DP162del|TFCP2_ENST00000548115.1_In_Frame_Del_p.DP162del|TFCP2_ENST00000257915.5_In_Frame_Del_p.DP162del	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	162	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TTAGCCCTAGGATCGATTATACC	0.409													84	234	---	---	---	---					-	51504739	GAT	-	51504737	7	5	4	1	0	1	0	1	0	0	0	0	15889	1174	41	0	1065	0	TFCP2	12	51504737	In_Frame_Del	DEL	GAT	TCGA-BA-4077-01B-01D-1434-08	2285209	51504737	82347158	214	970											
ESPL1	9700	broad.mit.edu	37	chr12	53687204	53687204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccaagctccccgactcaaGtatcttattggggctgcacc	8	9	9	15	2	2	0	1	0	1	0	3	1	3	0	4	2	2	4	4	2	4	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:53687204G>C	ENST00000257934.4	+	31	6400	c.6309G>C	c.(6307-6309)aaG>aaC	p.K2103N	ESPL1_ENST00000552462.1_Missense_Mutation_p.K2103N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2103					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCCGACTCAAGTATCTTATTG	0.557													21	89					0	0	0	0	C	53687204	G	C	53687204	3	2	4	1	0	0	0	0	1	0	0	0	5291	1020	36	4	6427	4	ESPL1	12	53687204	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2182467	53687204	80164691	215	971											
GLS2	27165	broad.mit.edu	37	chr12	56865620	56865620	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atttaacaacttcgatgtgtCctaggaatatgggcagaagg	13	11	11	6	1	0	1	0	0	0	1	2	3	1	2	1	3	2	1	1	3	6	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:56865620C>T	ENST00000311966.4	-	17	1867	c.1588_splice	c.e17-1	p.G530_splice		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	530					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTCGATGTGTCCTAGGAATAT	0.483													69	150					0	0	0	0	T	56865620	C	T	56865620	5	4	4	1	0	0	0	0	0	0	1	0	6515	869	30	2	227	2	GLS2	12	56865620	Splice_Site	SNP	C	TCGA-BA-4077-01B-01D-1434-08	3178416	56865620	76986275	216	972											
NAB2	4665	broad.mit.edu	37	chr12	57485044	57485044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgacgtgcagcagctgtgtGaggcgggtgaggaggagttt	8	8	19	6	3	0	2	0	2	0	0	0	5	0	4	0	4	3	4	0	4	0	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:57485044G>C	ENST00000300131.3	+	2	598	c.220G>C	c.(220-222)Gag>Cag	p.E74Q	NAB2_ENST00000342556.6_Missense_Mutation_p.E74Q|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.E74Q	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	74	NCD1.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCAGCTGTGTGAGGCGGGTGA	0.632													25	219					0	0	0	0	C	57485044	G	C	57485044	3	2	4	1	0	0	0	0	1	0	0	0	10202	1291	45	2	226	2	NAB2	12	57485044	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	619424	57485044	76366851	217	973											
DPY19L2	283417	broad.mit.edu	37	chr12	63974572	63974572	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcactgttaaaatgccaaaGataaccttctcaaaacgaac	18	9	4	10	1	2	1	2	0	1	1	3	2	2	1	2	0	4	1	2	0	7	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:63974572G>C	ENST00000324472.4	-	19	1953	c.1770C>G	c.(1768-1770)atC>atG	p.I590M	DPY19L2_ENST00000413230.2_Missense_Mutation_p.I37M	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	590					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAATGCCAAAGATAACCTTCT	0.373													29	86					0	0	0	0	C	63974572	G	C	63974572	3	2	4	1	0	0	0	0	1	0	0	0	4777	932	33	2	522	2	DPY19L2	12	63974572	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	6489528	63974572	69877323	218	974											
LRRC10	376132	broad.mit.edu	37	chr12	70004349	70004349	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgcacaccacctggggCagagccttgaagttgttgaa	11	8	13	9	0	0	3	0	2	0	1	0	3	0	3	3	3	2	4	3	3	3	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:70004349C>A	ENST00000361484.3	-	1	593	c.270G>T	c.(268-270)ctG>ctT	p.L90L		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	90						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCACCTGGGGCAGAGCCTTGA	0.562													23	56					3.62473e-10	3.84362e-10	1	0	A	70004349	C	A	70004349	2	1	4	1	0	0	0	0	0	0	0	1	9031	697	25	4		4	LRRC10	12	70004349	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	6029777	70004349	63847546	219	975											
NUP37	79023	broad.mit.edu	37	chr12	102492898	102492898	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatacctgcaggtgtgatcGtcactcacacttgcaatttc	10	12	7	12	1	2	1	2	1	0	0	4	1	2	1	1	1	3	2	1	1	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:102492898G>A	ENST00000552283.1	-	5	574	c.435C>T	c.(433-435)gaC>gaT	p.D145D	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Silent_p.D145D			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	145					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						AGGTGTGATCGTCACTCACAC	0.343													34	62					0	0	0	0	A	102492898	G	A	102492898	2	1	4	1	0	0	0	0	0	0	0	1	10835	1136	40	1		1	NUP37	12	102492898	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	32488549	102492898	31358997	220	976											
CRY1	1407	broad.mit.edu	37	chr12	107393468	107393468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccatggaaagcctgtccggCcttccgcccatttggctaaa	8	10	9	14	2	0	0	0	0	0	0	3	1	3	1	6	3	1	1	6	3	3	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:107393468C>T	ENST00000008527.5	-	7	1865	c.998G>A	c.(997-999)gGc>gAc	p.G333D		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	333	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GCCTGTCCGGCCTTCCGCCCA	0.473													27	45					0	0	0	0	T	107393468	C	T	107393468	3	4	4	1	0	0	0	0	1	0	0	0	3933	739	26	4	786	4	CRY1	12	107393468	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	4900570	107393468	26458427	221	977											
TCTN1	79600	broad.mit.edu	37	chr12	111078307	111078307	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacactttagcctttgcgtGaatgttgttcttgaggtagg	7	15	13	6	1	1	2	0	2	1	0	1	3	1	3	1	3	2	3	1	3	3	7			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:111078307G>C	ENST00000551590.1	+	8	1119	c.963G>C	c.(961-963)gtG>gtC	p.V321V	TCTN1_ENST00000377654.3_Silent_p.V143V|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Silent_p.V321V|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000397655.3_Silent_p.V307V			Q2MV58	TECT1_HUMAN	tectonic family member 1	321					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						GCCTTTGCGTGAATGTTGTTC	0.542													16	101					0	0	0	0	C	111078307	G	C	111078307	2	2	4	1	0	0	0	0	0	0	0	1	15816	1277	45	2		2	TCTN1	12	111078307	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	3684839	111078307	22773588	222	978											
CCDC63	160762	broad.mit.edu	37	chr12	111336787	111336787	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatatgtatgagagcaagtaCggggaggtcagcaagacctt	13	8	14	6	1	1	2	1	1	0	2	1	5	1	3	1	3	3	4	1	3	5	4	rs141258896		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:111336787C>T	ENST00000308208.5	+	10	1442	c.1200C>T	c.(1198-1200)taC>taT	p.Y400Y	CCDC63_ENST00000552694.1_Silent_p.Y321Y|CCDC63_ENST00000545036.1_Silent_p.Y360Y	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	400										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGAGCAAGTACGGGGAGGTCA	0.512													16	74					0	0	0	0	T	111336787	C	T	111336787	2	4	4	1	0	0	0	0	0	0	0	1	2861	547	19	1		1	CCDC63	12	111336787	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	258480	111336787	22515108	223	979											
CCDC63	160762	broad.mit.edu	37	chr12	111345227	111345227	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaggaagtgcgcggagacAgcctgcctgagaaggtggat	11	6	17	7	2	0	2	0	1	0	2	0	6	0	4	2	4	3	1	2	4	3	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:111345227A>G	ENST00000308208.5	+	12	1881	c.1639A>G	c.(1639-1641)Agc>Ggc	p.S547G	CCDC63_ENST00000552694.1_Missense_Mutation_p.S468G|CCDC63_ENST00000545036.1_Missense_Mutation_p.S507G	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	547										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCGCGGAGACAGCCTGCCTGA	0.517													7	50					0	0	0	0	G	111345227	A	G	111345227	3	3	4	1	0	0	0	0	1	0	0	0	2861	188	7	5	1681	5	CCDC63	12	111345227	Missense_Mutation	SNP	A	TCGA-BA-4077-01B-01D-1434-08	8440	111345227	22506668	224	980											
CCDC64	92558	broad.mit.edu	37	chr12	120530923	120530923	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggggggatgagcccagcatCgctgaaggcaaacgactctt	10	6	14	11	3	1	2	0	2	1	0	2	4	1	3	1	4	3	3	1	4	2	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:120530923C>T	ENST00000397558.2	+	9	1680	c.1680C>T	c.(1678-1680)atC>atT	p.I560I	CCDC64_ENST00000446727.2_Silent_p.I231I|CCDC64_ENST00000257583.4_Silent_p.I257I|CCDC64_ENST00000546857.1_3'UTR	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	560					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCCCAGCATCGCTGAAGGCA	0.602													5	35					0	0	0	0	T	120530923	C	T	120530923	2	4	4	1	0	0	0	0	0	0	0	1	2862	874	31	1		1	CCDC64	12	120530923	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	9185696	120530923	13320972	225	981											
SNRNP35	11066	broad.mit.edu	37	chr12	123950297	123950297	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggacaaattaaaggaagtCttttcccgctatggtgacat	13	11	10	7	1	1	1	0	1	1	0	2	4	2	3	1	3	0	1	1	3	5	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:123950297C>G	ENST00000526639.2	+	2	789	c.210C>G	c.(208-210)gtC>gtG	p.V70V	SNRNP35_ENST00000350887.5_Silent_p.V70V|SNRNP35_ENST00000412157.2_Silent_p.V75V|SNRNP35_ENST00000527158.2_Intron	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	70	RRM.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TAAAGGAAGTCTTTTCCCGCT	0.517													27	46					0	0	0	0	G	123950297	C	G	123950297	2	3	4	1	0	0	0	0	0	0	0	1	14943	900	32	2		2	SNRNP35	12	123950297	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	3419374	123950297	9901598	226	982											
TMEM132B	114795	broad.mit.edu	37	chr12	126135268	126135268	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgaggacgatgaggagaaGaagggacgaggctgctccct	12	4	17	8	3	0	3	0	1	0	2	1	10	1	5	1	4	1	2	1	4	2	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:126135268G>C	ENST00000299308.3	+	7	1676	c.1668G>C	c.(1666-1668)aaG>aaC	p.K556N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.K68N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	556						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATGAGGAGAAGAAGGGACGAG	0.552													4	103					0	0	0	0	C	126135268	G	C	126135268	3	2	4	1	0	0	0	0	1	0	0	0	16140	933	33	2	1694	2	TMEM132B	12	126135268	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2184971	126135268	7716627	227	983											
TMEM132D	121256	broad.mit.edu	37	chr12	129566558	129566558	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgctcatcatcctcctcctCttcactgtccccggcaggcc	4	10	6	21	2	4	0	3	0	1	0	8	0	8	0	7	2	0	2	7	2	0	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:129566558C>G	ENST00000422113.2	-	7	1995	c.1669G>C	c.(1669-1671)Gag>Cag	p.E557Q	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E95Q	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	557						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCTCCTCCTCTTCACTGTCC	0.642													18	96					0	0	0	0	G	129566558	C	G	129566558	3	3	4	1	0	0	0	0	1	0	0	0	16141	922	32	2	1642	2	TMEM132D	12	129566558	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	3431290	129566558	4285337	228	984											
ANKLE2	23141	broad.mit.edu	37	chr12	133306305	133306305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggccggttccctggtgacctCgagctgatcctcgtgcctgg	3	10	14	14	3	0	2	0	2	0	0	4	3	2	2	5	4	2	2	5	4	0	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:133306305C>G	ENST00000539605.1	-	10	8941	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	ANKLE2_ENST00000542657.1_Missense_Mutation_p.E170Q|ANKLE2_ENST00000357997.5_Missense_Mutation_p.E815Q|ANKLE2_ENST00000542282.1_Missense_Mutation_p.E170Q|ANKLE2_ENST00000542374.1_Intron			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	815						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTGGTGACCTCGAGCTGATCC	0.597													10	154					0	0	0	0	G	133306305	C	G	133306305	3	3	4	1	0	0	0	0	1	0	0	0	633	893	31	3	385	3	ANKLE2	12	133306305	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	3739747	133306305	545590	229	985											
FRY	10129	broad.mit.edu	37	chr13	32818298	32818298	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaatgtggaagttctgaaGacaattgaaaaatatgtgca	16	12	9	4	0	2	3	1	2	1	1	2	4	2	4	0	1	1	2	0	1	7	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr13:32818298G>C	ENST00000380250.3	+	47	7303	c.6807G>C	c.(6805-6807)aaG>aaC	p.K2269N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAGTTCTGAAGACAATTGAAA	0.438													23	115					0	0	0	0	C	32818298	G	C	32818298	3	2	4	1	0	0	0	0	1	0	0	0	6111	933	33	2	6993	2	FRY	13	32818298	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08		32818298	82351580	230	986											
UGGT2	55757	broad.mit.edu	37	chr13	96592328	96592328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgagtatattttgatccttCttcactttttggtacatctg	7	20	7	7	0	3	2	1	2	2	0	4	2	4	2	1	1	1	2	1	1	3	9			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr13:96592328C>G	ENST00000376747.3	-	16	1765	c.1695G>C	c.(1693-1695)aaG>aaC	p.K565N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	565					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTTGATCCTTCTTCACTTTTT	0.279													5	126					0	0	0	0	G	96592328	C	G	96592328	3	3	4	1	0	0	0	0	1	0	0	0	17038	912	32	2	2951	2	UGGT2	13	96592328	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	63774030	96592328	18577550	231	987											
NALCN	259232	broad.mit.edu	37	chr13	101756771	101756771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatatcacaaacacatactCagcaatctgaaacgggcaaa	19	6	6	10	1	3	1	2	1	1	0	3	2	3	1	0	1	4	2	0	1	7	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr13:101756771C>T	ENST00000251127.6	-	25	2845	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	922						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACACATACTCAGCAATCTGA	0.423													6	101					0	0	0	0	T	101756771	C	T	101756771	3	4	4	1	0	0	0	0	1	0	0	0	10218	835	29	2	2532	2	NALCN	13	101756771	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	5164443	101756771	13413107	232	988											
OR4N2	390429	broad.mit.edu	37	chr14	20295739	20295739	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctccctggaaattttctCattattttcaccataaagtc	11	16	3	11	0	2	0	2	0	1	0	6	1	4	1	3	1	0	0	3	1	4	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:20295739C>T	ENST00000568211.1	+	1	132	c.132C>T	c.(130-132)ctC>ctT	p.L44L	OR4N2_ENST00000315947.1_Silent_p.L44L			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	44					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)		GAAATTTTCTCATTATTTTCA	0.448													118	271					0	0	0	0	T	20295739	C	T	20295739	2	4	4	1	0	0	0	0	0	0	0	1	11148	813	29	2		2	OR4N2	14	20295739	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08		20295739	87053801	233	989											
OR4K15	81127	broad.mit.edu	37	chr14	20444245	20444245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttggcattcactgttaatCtgccattttgtggtcctaat	8	17	8	8	0	2	0	1	0	1	0	3	0	3	0	2	2	1	3	2	2	2	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:20444245C>G	ENST00000305051.5	+	1	643	c.568C>G	c.(568-570)Ctg>Gtg	p.L190V		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACTGTTAATCTGCCATTTTG	0.438													78	219					0	0	0	0	G	20444245	C	G	20444245	3	3	4	1	0	0	0	0	1	0	0	0	11141	912	32	2	570	2	OR4K15	14	20444245	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	148506	20444245	86905295	234	990											
TOX4	9878	broad.mit.edu	37	chr14	21963395	21963395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcttctcacaggttgagtCtccttctcagatggatgttg	6	16	9	10	0	4	2	2	1	4	1	7	3	4	3	1	2	0	2	1	2	0	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:21963395C>G	ENST00000405508.1	+	9	1925	c.1649C>G	c.(1648-1650)tCt>tGt	p.S550C	TOX4_ENST00000262709.3_Missense_Mutation_p.S550C|TOX4_ENST00000448790.2_Missense_Mutation_p.S527C			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	550						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CAGGTTGAGTCTCCTTCTCAG	0.483													63	168					0	0	0	0	G	21963395	C	G	21963395	3	3	4	1	0	0	0	0	1	0	0	0	16475	913	32	2	1679	2	TOX4	14	21963395	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1519150	21963395	85386145	235	991											
DLGAP5	9787	broad.mit.edu	37	chr14	55625360	55625360	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttcctgcctaattctctCtctcattgcattttttatgg	5	21	4	11	0	4	0	1	0	3	0	7	0	5	0	2	1	2	1	2	1	2	8			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:55625360C>G	ENST00000247191.2	-	14	1969	c.1753G>C	c.(1753-1755)Gag>Cag	p.E585Q	DLGAP5_ENST00000395425.2_Missense_Mutation_p.E585Q	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	585					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CTAATTCTCTCTCTCATTGCA	0.393													40	87					0	0	0	0	G	55625360	C	G	55625360	3	3	4	1	0	0	0	0	1	0	0	0	4600	922	32	2	906	2	DLGAP5	14	55625360	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	33661965	55625360	51724180	236	992											
DLGAP5	9787	broad.mit.edu	37	chr14	55643828	55643828	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgggtgtcaaaaaagcaTtggcacttctgggagtcata	13	10	11	7	0	3	0	2	0	1	0	3	1	3	1	0	3	2	2	0	3	5	3	rs139172891		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:55643828T>C	ENST00000247191.2	-	8	1217	c.1001A>G	c.(1000-1002)aAt>aGt	p.N334S	DLGAP5_ENST00000395425.2_Missense_Mutation_p.N334S	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	334					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAAAAAAGCATTGGCACTTCT	0.378													30	64					0	0	0	0	C	55643828	T	C	55643828	3	2	4	1	0	0	0	0	1	0	0	0	4600	1493	52	5	1682	5	DLGAP5	14	55643828	Missense_Mutation	SNP	T	TCGA-BA-4077-01B-01D-1434-08	18468	55643828	51705712	237	993											
SPTB	6710	broad.mit.edu	37	chr14	65233386	65233386	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctgagcctagtaggggtGagagggctctggctgcagtg	6	8	20	7	0	1	2	0	2	1	1	1	3	1	2	1	5	2	5	1	5	2	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:65233386G>C	ENST00000542895.1	-	32	6499	c.6403C>G	c.(6403-6405)Cac>Gac	p.H2135D	SPTB_ENST00000389722.3_Intron|SPTB_ENST00000389721.5_Missense_Mutation_p.H2135D|SPTB_ENST00000556626.1_Intron			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2135					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TAGTAGGGGTGAGAGGGCTCT	0.652													41	233					0	0	0	0	C	65233386	G	C	65233386	3	2	4	1	0	0	0	0	1	0	0	0	15208	1290	45	2	672	2	SPTB	14	65233386	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	9589558	65233386	42116154	238	994											
ZFP36L1	677	broad.mit.edu	37	chr14	69256568	69256568	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcccaggaggtcatcggcGctcagaatagggggtggggt	8	6	19	8	2	2	1	2	0	0	1	3	3	2	2	1	7	1	1	1	7	2	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:69256568G>A	ENST00000439696.2	-	2	1000	c.699C>T	c.(697-699)agC>agT	p.S233S	ZFP36L1_ENST00000336440.3_Silent_p.S233S|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	233					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGTCATCGGCGCTCAGAATAG	0.627											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	269					0	0	0	0	A	69256568	G	A	69256568	2	1	4	1	0	0	0	0	0	0	0	1	17741	1078	38	1		1	ZFP36L1	14	69256568	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	4023182	69256568	38092972	239	995											
DCAF5	8816	broad.mit.edu	37	chr14	69520744	69520744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggtctcacaggccatttCagacccgcaacaatctttgt	9	10	10	12	1	3	1	2	0	2	1	4	1	3	1	2	3	1	1	2	3	2	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:69520744C>T	ENST00000341516.5	-	9	2806	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K	DCAF5_ENST00000556847.1_Missense_Mutation_p.E805K|DCAF5_ENST00000557386.1_Missense_Mutation_p.E886K|DCAF5_ENST00000554215.1_Missense_Mutation_p.E805K	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	887						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CAGGCCATTTCAGACCCGCAA	0.567													19	193					0	0	0	0	T	69520744	C	T	69520744	3	4	4	1	0	0	0	0	1	0	0	0	4306	835	29	2	173	2	DCAF5	14	69520744	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	264176	69520744	37828796	240	996											
PCNX	22990	broad.mit.edu	37	chr14	71485846	71485846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggtcttccagttctgcctCgtcatagccagctgtcaata	7	13	9	12	1	4	0	2	0	2	0	6	0	5	0	3	1	3	2	3	1	3	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:71485846C>T	ENST00000304743.2	+	12	3563	c.3117C>T	c.(3115-3117)ctC>ctT	p.L1039L	PCNX_ENST00000439984.3_Silent_p.L928L|PCNX_ENST00000238570.5_Silent_p.L1039L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1039						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGTTCTGCCTCGTCATAGCCA	0.423													48	323					0	0	0	0	T	71485846	C	T	71485846	2	4	4	1	0	0	0	0	0	0	0	1	11662	871	31	1		1	PCNX	14	71485846	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1965102	71485846	35863694	241	997											
STON2	85439	broad.mit.edu	37	chr14	81743806	81743806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attccctttgacgaggatgtCattgaggcccaggcggcact	8	10	12	11	2	1	2	1	2	0	0	2	4	2	3	2	4	0	1	2	4	0	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:81743806C>T	ENST00000555447.1	-	6	2261	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	STON2_ENST00000267540.2_Missense_Mutation_p.D617N	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	617	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACGAGGATGTCATTGAGGCCC	0.532													17	142					0	0	0	0	T	81743806	C	T	81743806	3	4	4	1	0	0	0	0	1	0	0	0	15408	826	29	2	874	2	STON2	14	81743806	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	10257960	81743806	25605734	242	998											
STON2	85439	broad.mit.edu	37	chr14	81743896	81743896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctggagaatctggttgtCtcctttgctcacaatgccag	7	13	11	10	0	3	1	1	0	2	1	4	2	3	1	2	2	3	3	2	2	2	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:81743896C>T	ENST00000555447.1	-	6	2171	c.1759G>A	c.(1759-1761)Gac>Aac	p.D587N	STON2_ENST00000267540.2_Missense_Mutation_p.D587N	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	587	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATCTGGTTGTCTCCTTTGCTC	0.507													14	152					0	0	0	0	T	81743896	C	T	81743896	3	4	4	1	0	0	0	0	1	0	0	0	15408	913	32	2	964	2	STON2	14	81743896	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	90	81743896	25605644	243	999											
BDKRB1	623	broad.mit.edu	37	chr14	96730571	96730571	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccaagccgtcccagatctGaacatcaccgcctgcatcct	10	8	6	17	2	2	2	1	1	1	1	5	2	5	2	6	0	3	1	6	0	2	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:96730571G>C	ENST00000216629.6	+	3	1158	c.552G>C	c.(550-552)ctG>ctC	p.L184L	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Silent_p.L184L	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	184					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TCCCAGATCTGAACATCACCG	0.592													32	175					0	0	0	0	C	96730571	G	C	96730571	2	2	4	1	0	0	0	0	0	0	0	1	1396	1277	45	2		2	BDKRB1	14	96730571	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	14986675	96730571	10618969	244	1000											
ATG2B	55102	broad.mit.edu	37	chr14	96777489	96777489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggctccaggcttcatatCtgccttgttaggtgtctgca	8	13	10	10	0	3	0	1	0	2	0	4	0	4	0	2	3	2	4	2	3	3	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:96777489C>T	ENST00000359933.4	-	28	5019	c.4126G>A	c.(4126-4128)Gat>Aat	p.D1376N	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1376										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCTTCATATCTGCCTTGTTA	0.448													35	347					0	0	0	0	T	96777489	C	T	96777489	3	4	4	1	0	0	0	0	1	0	0	0	1098	913	32	2	2170	2	ATG2B	14	96777489	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	46918	96777489	10572051	245	1001											
RTF1	23168	broad.mit.edu	37	chr15	41762577	41762577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacgaacatcatcgtctGatgaagaagaggagtaagct	15	8	10	8	2	3	4	2	2	1	2	4	6	3	5	0	1	2	2	0	1	4	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:41762577G>T	ENST00000389629.4	+	7	1024	c.1012G>T	c.(1012-1014)Gat>Tat	p.D338Y		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	338	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ATCATCGTCTGATGAAGAAGA	0.443													41	369					9.39024e-22	1.04362e-21	1	0	T	41762577	G	T	41762577	3	4	4	1	0	0	0	0	1	0	0	0	13806	1290	45	2	1038	2	RTF1	15	41762577	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08		41762577	60768815	246	1002											
TP53BP1	7158	broad.mit.edu	37	chr15	43749026	43749026	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccctggtgtctgtatcatCtccctttgttttgtcatcat	5	19	6	11	0	5	0	3	0	2	0	7	0	6	0	2	1	0	2	2	1	1	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:43749026C>G	ENST00000263801.3	-	12	2017	c.1765G>C	c.(1765-1767)Gat>Cat	p.D589H	TP53BP1_ENST00000382039.3_Missense_Mutation_p.D594H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.D594H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.D594H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	589					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTGTATCATCTCCCTTTGTT	0.403								Other conserved DNA damage response genes					70	156					0	0	0	0	G	43749026	C	G	43749026	3	3	4	1	0	0	0	0	1	0	0	0	16478	913	32	2	4221	2	TP53BP1	15	43749026	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1986449	43749026	58782366	247	1003											
FBN1	2200	broad.mit.edu	37	chr15	48796097	48796097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtttgatacactggcctCtcttgtatccaccatagcat	10	13	7	11	0	1	1	0	1	1	0	3	1	2	1	3	2	2	3	3	2	4	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:48796097C>G	ENST00000316623.5	-	17	2455	c.2000G>C	c.(1999-2001)aGa>aCa	p.R667T		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	667	TB 3.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACACTGGCCTCTCTTGTATCC	0.488													13	112					0	0	0	0	G	48796097	C	G	48796097	3	3	4	1	0	0	0	0	1	0	0	0	5747	913	32	2	6815	2	FBN1	15	48796097	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	5047071	48796097	53735295	248	1004											
SHC4	399694	broad.mit.edu	37	chr15	49176472	49176472	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaagattcatcaatgtGagactgcatgttgagatggt	11	14	11	5	0	3	3	3	2	0	3	3	5	3	3	0	1	1	2	0	1	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:49176472G>T	ENST00000332408.4	-	4	1241	c.813C>A	c.(811-813)ctC>ctA	p.L271L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	271	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TCATCAATGTGAGACTGCATG	0.338													18	63					2.94398e-08	3.09189e-08	1	0	T	49176472	G	T	49176472	2	4	4	1	0	0	0	0	0	0	0	1	14361	1277	45	2		2	SHC4	15	49176472	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	380375	49176472	53354920	249	1005											
USP3	9960	broad.mit.edu	37	chr15	63866568	63866568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaagtaagcgctctaaGaatcaagaaaatggaccagt	17	8	9	7	1	3	3	2	0	1	3	3	4	3	4	1	1	1	2	1	1	7	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:63866568G>T	ENST00000268049.7	+	12	1320	c.996G>T	c.(994-996)aaG>aaT	p.K332N	USP3_ENST00000558285.1_Missense_Mutation_p.K337N|USP3_ENST00000540797.1_Missense_Mutation_p.K310N|USP3_ENST00000539772.1_Missense_Mutation_p.K105N|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000380324.3_Missense_Mutation_p.K354N|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.K265N|USP3-AS1_ENST00000559357.1_RNA			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	354					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGCGCTCTAAGAATCAAGAAA	0.323													4	77					0.00116845	0.00119848	1	0	T	63866568	G	T	63866568	3	4	4	1	0	0	0	0	1	0	0	0	17156	933	33	2	1104	2	USP3	15	63866568	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	14690096	63866568	38664824	250	1006											
HERC1	8925	broad.mit.edu	37	chr15	63966767	63966767	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtctgagttgtggccattTtcagccagaacttttggtat	8	15	10	8	0	2	2	1	1	1	1	2	2	2	2	2	2	2	2	2	2	2	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:63966767T>A	ENST00000443617.2	-	38	7707	c.7620A>T	c.(7618-7620)gaA>gaT	p.E2540D		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2540					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGTGGCCATTTTCAGCCAGAA	0.483													9	18					0	0	0	0	A	63966767	T	A	63966767	3	1	4	1	0	0	0	0	1	0	0	0	7107	1838	64	5	7129	5	HERC1	15	63966767	Missense_Mutation	SNP	T	TCGA-BA-4077-01B-01D-1434-08	100199	63966767	38564625	251	1007											
IGDCC4	57722	broad.mit.edu	37	chr15	65702644	65702644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagactccgggtgcagagaGaagtctgcgagtgctgggga	9	7	18	7	2	1	3	0	1	1	3	2	7	2	4	1	3	3	2	1	3	1	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:65702644G>C	ENST00000352385.2	-	3	644	c.435C>G	c.(433-435)ttC>ttG	p.F145L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	145	Ig-like C2-type 2.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGTGCAGAGAGAAGTCTGCGA	0.557													15	113					0	0	0	0	C	65702644	G	C	65702644	3	2	4	1	0	0	0	0	1	0	0	0	7622	933	33	2	3389	2	IGDCC4	15	65702644	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1735877	65702644	36828748	252	1008											
RPL4	6124	broad.mit.edu	37	chr15	66791763	66791763	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttatgcagcaggcttcttCtcctctgtagtaggtttctt	5	18	9	9	0	4	0	0	0	4	0	5	0	4	0	1	2	2	7	1	2	3	8			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:66791763C>T	ENST00000307961.6	-	10	1358	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	RPL4_ENST00000568588.1_Silent_p.E328E	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	422	Lys-rich.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CAGGCTTCTTCTCCTCTGTAG	0.413													9	156					0	0	0	0	T	66791763	C	T	66791763	2	4	4	1	0	0	0	0	0	0	0	1	13680	912	32	2		2	RPL4	15	66791763	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1089119	66791763	35739629	253	1009											
HCN4	10021	broad.mit.edu	37	chr15	73659999	73659999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctggcccaggcgcacctCggcctccgggaggatctggt	4	6	16	15	3	1	0	0	0	1	0	3	2	2	2	5	7	0	1	5	7	0	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:73659999C>T	ENST00000261917.3	-	1	1606	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	205					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGGCGCACCTCGGCCTCCGGG	0.682													7	61					0	0	0	0	T	73659999	C	T	73659999	3	4	4	1	0	0	0	0	1	0	0	0	7049	893	31	1	3030	1	HCN4	15	73659999	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	6868236	73659999	28871393	254	1010											
NPTN	27020	broad.mit.edu	37	chr15	73862516	73862516	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaacctcatctggcctcttCctcttctcatacacaacaat	10	12	4	15	0	5	0	2	0	4	0	7	1	6	1	3	2	3	0	3	2	4	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:73862516C>T	ENST00000351217.6	-	5	1659	c.741G>A	c.(739-741)agG>agA	p.R247R	NPTN_ENST00000545878.1_Silent_p.R363R|NPTN_ENST00000563691.1_Silent_p.R363R|NPTN_ENST00000345330.4_Silent_p.R363R|NPTN_ENST00000562924.1_Silent_p.R247R|NPTN_ENST00000542234.1_Silent_p.R158R	NM_001161364.1|NM_017455.3	NP_001154836.1|NP_059429.1	Q9Y639	NPTN_HUMAN	neuroplastin	363	Ig-like 3.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTGGCCTCTTCCTCTTCTCAT	0.512													42	285					0	0	0	0	T	73862516	C	T	73862516	2	4	4	1	0	0	0	0	0	0	0	1	10672	854	30	2		2	NPTN	15	73862516	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	202517	73862516	28668876	255	1011											
C15orf39	56905	broad.mit.edu	37	chr15	75500848	75500848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctggccaagctgctgtCtcagctgcagcgcttcgatc	5	10	12	14	2	1	0	1	0	1	0	4	1	1	0	1	1	6	7	1	1	1	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:75500848C>A	ENST00000360639.2	+	2	2779	c.2459C>A	c.(2458-2460)tCt>tAt	p.S820Y	C15orf39_ENST00000394987.4_Missense_Mutation_p.S820Y|C15orf39_ENST00000567617.1_Missense_Mutation_p.S820Y			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	820										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AAGCTGCTGTCTCAGCTGCAG	0.677													3	21					0.115264	0.116057	1	0	A	75500848	C	A	75500848	3	1	4	1	0	0	0	0	1	0	0	0	1805	913	32	2	2461	2	C15orf39	15	75500848	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1638332	75500848	27030544	256	1012											
ETFA	2108	broad.mit.edu	37	chr15	76584999	76584999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcatgctgagccaccaGaacttttgctatgcctgcta	10	11	7	13	0	1	2	1	1	0	1	1	2	1	2	3	0	6	3	3	0	3	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:76584999G>T	ENST00000557943.1	-	3	309	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	ETFA_ENST00000560726.1_Intron|ETFA_ENST00000433983.2_Missense_Mutation_p.L28M|ETFA_ENST00000559602.1_Intron	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	77					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TGAGCCACCAGAACTTTTGCT	0.358													33	176					1.60099e-16	1.744e-16	1	0	T	76584999	G	T	76584999	3	4	4	1	0	0	0	0	1	0	0	0	5307	933	33	2	812	2	ETFA	15	76584999	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1084151	76584999	25946393	257	1013											
LINGO1	84894	broad.mit.edu	37	chr15	77906720	77906720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgcgcacatgcaggtggGcgggcatggagtcgttgccg	6	7	18	10	4	0	0	0	0	0	0	1	1	0	1	1	4	4	5	1	4	0	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:77906720G>A	ENST00000355300.6	-	2	1703	c.1529C>T	c.(1528-1530)gCc>gTc	p.A510V	LINGO1_ENST00000561030.1_Missense_Mutation_p.A504V	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	510	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ATGCAGGTGGGCGGGCATGGA	0.657													21	71					0	0	0	0	A	77906720	G	A	77906720	3	1	4	1	0	0	0	0	1	0	0	0	8869	1203	42	4	337	4	LINGO1	15	77906720	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1321721	77906720	24624672	258	1014											
ADAMTS7	11173	broad.mit.edu	37	chr15	79058055	79058055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccgcggggggccccgcttCagccaggctgggagccagcg	4	4	18	15	4	1	0	1	0	0	0	2	1	2	1	5	5	3	2	5	5	0	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:79058055C>T	ENST00000388820.4	-	19	4408	c.4198G>A	c.(4198-4200)Gaa>Aaa	p.E1400K		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1400					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCCCCGCTTCAGCCAGGCTG	0.692													15	154					0	0	0	0	T	79058055	C	T	79058055	3	4	4	1	0	0	0	0	1	0	0	0	271	835	29	2	886	2	ADAMTS7	15	79058055	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1151335	79058055	23473337	259	1015											
MSLNL	401827	broad.mit.edu	37	chr16	823207	823207	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgtccaggttggttctGaggatgcagccatccaggca	8	9	15	9	0	1	1	0	1	1	0	3	2	3	2	3	5	2	4	3	5	0	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:823207G>T	ENST00000293892.3	-	10	2060	c.2061C>A	c.(2059-2061)ctC>ctA	p.L687L	MSLNL_ENST00000442466.1_Silent_p.L336L			Q96KJ4	MSLNL_HUMAN	mesothelin-like	336					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTTGGTTCTGAGGATGCAGC	0.627													11	137					1.61879e-10	1.72907e-10	1	0	T	823207	G	T	823207	2	4	4	1	0	0	0	0	0	0	0	1	9952	1277	45	2		2	MSLNL	16	823207	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08		823207	89531546	260	1016											
IFT140	9742	broad.mit.edu	37	chr16	1608111	1608111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggcacccaggctccacctCgtcttctctgtctgcttctt	3	14	8	16	1	4	0	0	0	4	0	7	0	5	0	3	2	1	3	3	2	0	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:1608111C>T	ENST00000426508.2	-	19	2587	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	742										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGCTCCACCTCGTCTTCTCTG	0.567													17	242					0	0	0	0	T	1608111	C	T	1608111	3	4	4	1	0	0	0	0	1	0	0	0	7609	893	31	1	2216	1	IFT140	16	1608111	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	784904	1608111	88746642	261	1017											
CRAMP1L	57585	broad.mit.edu	37	chr16	1706343	1706343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttgagaagacccctgcaGaaggcagggacagtcccacc	11	5	12	13	0	1	3	0	1	1	3	2	5	2	4	4	2	1	2	4	2	2	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:1706343G>A	ENST00000397412.3	+	10	1684	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	CRAMP1L_ENST00000262317.4_Intron|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.E526K|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.E529K			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	529						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GACCCCTGCAGAAGGCAGGGA	0.677													10	19					0	0	0	0	A	1706343	G	A	1706343	3	1	4	1	0	0	0	0	1	0	0	0	3876	943	33	2	1619	2	CRAMP1L	16	1706343	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	98232	1706343	88648410	262	1018											
SEZ6L2	26470	broad.mit.edu	37	chr16	29884920	29884920	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtcccggctgtagcaggtGagcatggctgccccctcgag	5	8	15	13	2	0	1	0	1	0	0	2	2	1	1	3	3	3	5	3	3	1	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:29884920G>A	ENST00000308713.5	-	13	2762	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	SEZ6L2_ENST00000537485.1_Silent_p.L701L|SEZ6L2_ENST00000350527.3_Silent_p.L675L|SEZ6L2_ENST00000346932.5_Silent_p.L631L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	745	Sushi 4.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTAGCAGGTGAGCATGGCTG	0.687													11	65					0	0	0	0	A	29884920	G	A	29884920	2	1	4	1	0	0	0	0	0	0	0	1	14231	1277	45	2		2	SEZ6L2	16	29884920	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	28178577	29884920	60469833	263	1019											
MYLPF	29895	broad.mit.edu	37	chr16	30387201	30387201	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctccagcgtcttctccatgTtcgaccagactcagatccag	8	10	8	15	2	3	2	1	0	2	2	7	3	5	2	4	0	1	2	4	0	0	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:30387201T>C	ENST00000322861.7	+	2	145	c.64T>C	c.(64-66)Ttc>Ctc	p.F22L		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	22					skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			CTTCTCCATGTTCGACCAGAC	0.592													11	41					0	0	0	0	C	30387201	T	C	30387201	3	2	4	1	0	0	0	0	1	0	0	0	10130	1725	60	5	70	5	MYLPF	16	30387201	Missense_Mutation	SNP	T	TCGA-BA-4077-01B-01D-1434-08	502281	30387201	59967552	264	1020											
PRR14	78994	broad.mit.edu	37	chr16	30666893	30666893	+	Missense_Mutation	SNP	T	T	A																															tcagctaaaccttacaccaaTgggactgcctcgaccaatca																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:30666893T>A	ENST00000542965.2	+	9	1841	c.1385T>A	c.(1384-1386)aTg>aAg	p.M462K	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.M462K			Q9BWN1	PRR14_HUMAN	proline rich 14	462										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CTTACACCAATGGGACTGCCT	0.517													7	39					0	0	0	0	A	30666893	T	A	30666893	3	1	4	1	0	0	0	0	1	0	0	0	12666	1464	51	5	1419	5	PRR14	16	30666893	Missense_Mutation	SNP	T	TCGA-BA-4077-01B-01D-1434-08	279692	30666893	59687860	265	1021	16	2									
PRR14	78994	broad.mit.edu	37	chr16	30666894	30666894	+	Missense_Mutation	SNP	G	G	A																															cagctaaaccttacaccaatGggactgcctcgaccaatcag																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:30666894G>A	ENST00000542965.2	+	9	1842	c.1386G>A	c.(1384-1386)atG>atA	p.M462I	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.M462I			Q9BWN1	PRR14_HUMAN	proline rich 14	462										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TTACACCAATGGGACTGCCTC	0.522													7	39					0	0	0	0	A	30666894	G	A	30666894	3	1	4	1	0	0	0	0	1	0	0	0	12666	1348	47	4	1420	4	PRR14	16	30666894	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1	30666894	59687859	266	1022	16	2									
PHKG2	5261	broad.mit.edu	37	chr16	30767526	30767526	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtgggaccccagggtatCtagcgccagagatccttaaa	10	9	12	10	1	1	1	0	0	1	1	2	3	2	2	4	2	1	1	4	2	4	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:30767526C>G	ENST00000563588.1	+	7	819	c.580C>G	c.(580-582)Cta>Gta	p.L194V	PHKG2_ENST00000424889.3_Missense_Mutation_p.L194V|PHKG2_ENST00000328273.7_Missense_Mutation_p.L194V	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	194	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			CCCAGGGTATCTAGCGCCAGA	0.597													77	183					0	0	0	0	G	30767526	C	G	30767526	3	3	4	1	0	0	0	0	1	0	0	0	11919	912	32	2	602	2	PHKG2	16	30767526	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	100632	30767526	59587227	267	1023											
NLRC5	84166	broad.mit.edu	37	chr16	57060138	57060138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaccacgccccaggccagtCtgtggccctcctgcccaaca	7	6	9	19	1	1	1	0	1	1	0	2	1	2	1	7	2	2	0	7	2	1	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:57060138C>T	ENST00000436936.1	+	6	1508	c.1283C>T	c.(1282-1284)tCt>tTt	p.S428F	NLRC5_ENST00000539144.1_Missense_Mutation_p.S428F|NLRC5_ENST00000308149.7_Missense_Mutation_p.S428F|NLRC5_ENST00000262510.6_Missense_Mutation_p.S428F			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	428	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCAGGCCAGTCTGTGGCCCTC	0.637													72	111					0	0	0	0	T	57060138	C	T	57060138	3	4	4	1	0	0	0	0	1	0	0	0	10540	913	32	2	1297	2	NLRC5	16	57060138	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	26292612	57060138	33294615	268	1024											
CHST5	23563	broad.mit.edu	37	chr16	75563052	75563052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaggcccagagttctcagtCaggcgatgcccagctgaagt	10	8	12	11	1	2	2	2	1	1	1	3	3	2	2	2	2	2	2	2	2	2	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:75563052C>G	ENST00000336257.3	-	3	2625	c.1231G>C	c.(1231-1233)Gac>Cac	p.D411H	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.D417H	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	411					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGTTCTCAGTCAGGCGATGCC	0.662													14	28					0	0	0	0	G	75563052	C	G	75563052	3	3	4	1	0	0	0	0	1	0	0	0	3436	826	29	2	8	2	CHST5	16	75563052	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	18502914	75563052	14791701	269	1025											
CHST5	23563	broad.mit.edu	37	chr16	75563522	75563522	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagggtcggcctccaccCacttgccgttggtgcccagc	4	8	14	15	2	0	1	0	1	0	0	2	1	1	1	5	4	3	1	5	4	0	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:75563522C>G	ENST00000336257.3	-	3	2155	c.761G>C	c.(760-762)tGg>tCg	p.W254S	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.W260S	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	254					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGCCTCCACCCACTTGCCGTT	0.731													31	68					0	0	0	0	G	75563522	C	G	75563522	3	3	4	1	0	0	0	0	1	0	0	0	3436	595	21	4	478	4	CHST5	16	75563522	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	470	75563522	14791231	270	1026											
P2RX1	5023	broad.mit.edu	37	chr17	3803019	3803019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtacgtgccagtccaggtCacagtgccagtcgatggtga	8	8	13	12	3	1	1	1	1	0	0	3	2	2	1	4	2	3	1	4	2	1	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:3803019C>T	ENST00000225538.3	-	8	1058	c.784G>A	c.(784-786)Gac>Aac	p.D262N		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	262					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CAGTCCAGGTCACAGTGCCAG	0.542													7	109					0	0	0	0	T	3803019	C	T	3803019	3	4	4	1	0	0	0	0	1	0	0	0	11410	826	29	2	435	2	P2RX1	17	3803019	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08		3803019	77392191	271	1027											
ZZEF1	23140	broad.mit.edu	37	chr17	4015950	4015950	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgtcacatagccagtgAcattgctggggatgtgcaca	10	8	13	10	1	1	1	1	1	0	0	1	2	1	2	1	2	4	3	1	2	1	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4015950A>C	ENST00000381638.2	-	5	1143	c.1019T>G	c.(1018-1020)gTc>gGc	p.V340G	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	340	DOC.						calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATAGCCAGTGACATTGCTGGG	0.512													31	69					0	0	0	0	C	4015950	A	C	4015950	3	2	4	1	0	0	0	0	1	0	0	0	18346	275	10	5	8070	5	ZZEF1	17	4015950	Missense_Mutation	SNP	A	TCGA-BA-4077-01B-01D-1434-08	212931	4015950	77179260	272	1028											
ALOX15	246	broad.mit.edu	37	chr17	4542786	4542786	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcggtaacaagggaacctGacctcgtccccggctccggg	8	5	13	15	4	0	1	0	1	0	0	3	2	2	2	5	4	3	2	5	4	3	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4542786G>A	ENST00000570836.1	-	3	372	c.276C>T	c.(274-276)gtC>gtT	p.V92V	ALOX15_ENST00000574640.1_Silent_p.V53V|ALOX15_ENST00000293761.3_Silent_p.V92V|ALOX15_ENST00000545513.1_Silent_p.V114V			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	92	PLAT.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AAGGGAACCTGACCTCGTCCC	0.647													19	85					0	0	0	0	A	4542786	G	A	4542786	2	1	4	1	0	0	0	0	0	0	0	1	538	1277	45	2		2	ALOX15	17	4542786	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	526836	4542786	76652424	273	1029											
SPAG7	9552	broad.mit.edu	37	chr17	4862900	4862900	+	Missense_Mutation	SNP	C	C	T																															tctgatctcattcatagcctCttcaatggagcgtgtgtccc																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4862900C>T	ENST00000573366.1	-	7	1318	c.460G>A	c.(460-462)Gag>Aag	p.E154K	SPAG7_ENST00000575142.1_3'UTR|SPAG7_ENST00000206020.3_Missense_Mutation_p.E205K			O75391	SPAG7_HUMAN	sperm associated antigen 7	205						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TTCATAGCCTCTTCAATGGAG	0.617													79	129					0	0	0	0	T	4862900	C	T	4862900	3	4	4	1	0	0	0	0	1	0	0	0	15073	922	32	2	74	2	SPAG7	17	4862900	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	320114	4862900	76332310	274	1030	17	2									
SPAG7	9552	broad.mit.edu	37	chr17	4862903	4862903	+	Missense_Mutation	SNP	C	C	T																															gatctcattcatagcctcttCaatggagcgtgtgtccctct																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4862903C>T	ENST00000573366.1	-	7	1315	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	SPAG7_ENST00000575142.1_3'UTR|SPAG7_ENST00000206020.3_Missense_Mutation_p.E204K			O75391	SPAG7_HUMAN	sperm associated antigen 7	204						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						ATAGCCTCTTCAATGGAGCGT	0.617													75	129					0	0	0	0	T	4862903	C	T	4862903	3	4	4	1	0	0	0	0	1	0	0	0	15073	835	29	2	77	2	SPAG7	17	4862903	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	3	4862903	76332307	275	1031	17	2									
SPAG7	9552	broad.mit.edu	37	chr17	4863614	4863614	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttccaccacatcatgtCtgggatgggatggcagaggg	9	8	13	11	0	2	1	1	0	1	1	3	3	3	3	3	4	0	1	3	4	0	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4863614C>A	ENST00000573366.1	-	4	948		c.e4-1		SPAG7_ENST00000575142.1_Splice_Site|SPAG7_ENST00000206020.3_Splice_Site			O75391	SPAG7_HUMAN	sperm associated antigen 7							nucleus	nucleic acid binding|protein binding	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						CACATCATGTCTGGGATGGGA	0.567													31	46					2.52449e-32	2.8344e-32	1	0	A	4863614	C	A	4863614	5	1	4	1	0	0	0	0	0	0	1	0	15073	927	32	2	457	2	SPAG7	17	4863614	Splice_Site	SNP	C	TCGA-BA-4077-01B-01D-1434-08	711	4863614	76331596	276	1032											
POLR2A	5430	broad.mit.edu	37	chr17	7417029	7417029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacgatacacaccacagtctCcaacctataccccaagctca	14	6	3	18	1	2	0	1	0	1	0	3	1	2	0	5	0	4	1	5	0	5	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:7417029C>G	ENST00000322644.6	+	29	5845	c.5446C>G	c.(5446-5448)Cca>Gca	p.P1816A		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1816	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCACAGTCTCCAACCTATAC	0.577													146	279					0	0	0	0	G	7417029	C	G	7417029	3	3	4	1	0	0	0	0	1	0	0	0	12286	855	30	2	5560	2	POLR2A	17	7417029	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	2553415	7417029	73778181	277	1033											
CHD3	1107	broad.mit.edu	37	chr17	7812049	7812049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcaggacatccagaatGatgctcaatttgccattatc	11	11	10	9	0	1	2	1	1	0	1	3	3	2	3	2	3	2	2	2	3	3	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:7812049G>T	ENST00000380358.4	+	36	5474	c.5473G>T	c.(5473-5475)Gat>Tat	p.D1825Y	CHD3_ENST00000358181.4_Missense_Mutation_p.D1732Y|CHD3_ENST00000330494.7_Missense_Mutation_p.D1766Y	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1766	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATCCAGAATGATGCTCAATT	0.443													26	218					4.72057e-08	4.9459e-08	1	0	T	7812049	G	T	7812049	3	4	4	1	0	0	0	0	1	0	0	0	3355	1290	45	2	5719	2	CHD3	17	7812049	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	395020	7812049	73383161	278	1034											
DNAH9	1770	broad.mit.edu	37	chr17	11835359	11835359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgtgttctcgggagaCggagtttaagagcatcctct	9	11	14	7	2	2	3	0	0	2	3	4	6	3	4	1	3	1	3	1	3	1	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:11835359C>T	ENST00000262442.3	+	64	12202	c.12134C>T	c.(12133-12135)aCg>aTg	p.T4045M	DNAH9_ENST00000396001.2_Missense_Mutation_p.T357M|DNAH9_ENST00000454412.2_Missense_Mutation_p.T3969M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4045	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCGGGAGACGGAGTTTAAG	0.498													10	475					0	0	0	0	T	11835359	C	T	11835359	3	4	4	1	0	0	0	0	1	0	0	0	4644	536	19	1	12388	1	DNAH9	17	11835359	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	4023310	11835359	69359851	279	1035											
FLOT2	2319	broad.mit.edu	37	chr17	27209040	27209040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcataggccaactgggcctCagctgtctgtggcaagaggg	8	8	14	11	0	3	1	2	0	1	1	3	1	3	1	2	4	2	2	2	4	3	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:27209040C>T	ENST00000394906.2	-	10	948	c.871G>A	c.(871-873)Gag>Aag	p.E291K	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.E236K|FLOT2_ENST00000394908.4_Missense_Mutation_p.E236K			Q14254	FLOT2_HUMAN	flotillin 2	236					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AACTGGGCCTCAGCTGTCTGT	0.572													18	54					0	0	0	0	T	27209040	C	T	27209040	3	4	4	1	0	0	0	0	1	0	0	0	5982	835	29	2	596	2	FLOT2	17	27209040	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	15373681	27209040	53986170	280	1036											
RFFL	117584	broad.mit.edu	37	chr17	33348692	33348692	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcatgagctcctctcgctGaaaggctgtagctcgaaacc	9	10	9	13	2	2	2	1	2	1	0	5	3	3	2	2	1	3	5	2	1	3	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:33348692G>A	ENST00000315249.7	-	3	511	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	RFFL_ENST00000268850.7_Nonsense_Mutation_p.Q97*|RFFL_ENST00000378516.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000394597.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000413582.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000447669.2_Nonsense_Mutation_p.Q97*|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000415395.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000584655.1_Nonsense_Mutation_p.Q97*			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	97					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TCCTCTCGCTGAAAGGCTGTA	0.512													16	128					0	0	0	0	A	33348692	G	A	33348692	4	1	4	1	0	0	0	0	0	1	0	0	13332	1299	45	2	822	2	RFFL	17	33348692	Nonsense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	6139652	33348692	47846518	281	1037											
NLE1	54475	broad.mit.edu	37	chr17	33469078	33469078	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgaacggggaacccagcaGctgcccgccctcatcctgga	8	5	12	16	3	1	0	1	0	0	0	3	3	2	2	4	3	5	2	4	3	2	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:33469078G>A	ENST00000442241.4	-	2	121	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	NLE1_ENST00000360831.5_Silent_p.L28L|NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	28						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GAACCCAGCAGCTGCCCGCCC	0.687													7	26					0	0	0	0	A	33469078	G	A	33469078	2	1	4	1	0	0	0	0	0	0	0	1	10530	962	34	4		4	NLE1	17	33469078	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	120386	33469078	47726132	282	1038											
GPR179	440435	broad.mit.edu	37	chr17	36486529	36486529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgggactggtgccagggCaggggctggggttggagcta	6	8	20	7	0	0	0	0	0	0	0	0	2	0	2	1	8	3	4	1	8	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:36486529C>A	ENST00000342292.4	-	11	2943	c.2923G>T	c.(2923-2925)Gcc>Tcc	p.A975S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	975						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ggtgccagggcaggggctggg	0.612													22	43					3.10358e-05	3.19829e-05	1	0	A	36486529	C	A	36486529	3	1	4	1	0	0	0	0	1	0	0	0	6723	710	25	4	4184	4	GPR179	17	36486529	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	3017451	36486529	44708681	283	1039											
ERBB2	2064	broad.mit.edu	37	chr17	37880180	37880180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagggcatctggatccctGatggggagaatgtgaaaatt	11	9	13	8	0	1	3	0	2	1	1	2	5	2	4	2	4	0	1	2	4	3	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:37880180G>C	ENST00000406381.2	+	21	2644	c.2134G>C	c.(2134-2136)Gat>Cat	p.D712H	ERBB2_ENST00000445658.2_Missense_Mutation_p.D466H|ERBB2_ENST00000584450.1_Missense_Mutation_p.D742H|ERBB2_ENST00000269571.5_Missense_Mutation_p.D742H|ERBB2_ENST00000584601.1_Missense_Mutation_p.D712H|ERBB2_ENST00000540147.1_Missense_Mutation_p.D712H|ERBB2_ENST00000541774.1_Missense_Mutation_p.D727H	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	742					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTGGATCCCTGATGGGGAGAA	0.502		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			4	67					0	0	0	0	C	37880180	G	C	37880180	3	2	4	1	0	0	0	0	1	0	0	0	5244	1290	45	2	2298	2	ERBB2	17	37880180	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1393651	37880180	43315030	284	1040											
EIF1	10209	broad.mit.edu	37	chr17	39847033	39847033	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcccttttgtcttttcaGattggactggctaaggacga	7	16	10	8	1	2	1	1	0	1	1	2	4	2	3	1	3	1	1	1	3	1	7			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:39847033G>A	ENST00000469257.1	+	4	443		c.e4-1		EIF1_ENST00000310837.4_Splice_Site|JUP_ENST00000540235.1_Intron|EIF1_ENST00000591776.1_Splice_Site			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGTCTTTTCAGATTGGACTGG	0.443													37	120					0	0	0	0	A	39847033	G	A	39847033	5	1	4	1	0	0	0	0	0	0	1	0	5026	956	33	2	311	2	EIF1	17	39847033	Splice_Site	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1966853	39847033	41348177	285	1041											
HAP1	9001	broad.mit.edu	37	chr17	39881154	39881154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggctgatgtcaccacgttCatccgcgttgcctcatccag	7	10	10	14	3	3	1	3	1	0	0	5	1	5	1	4	1	1	3	4	1	0	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:39881154C>T	ENST00000393939.2	-	10	1593	c.1584G>A	c.(1582-1584)atG>atA	p.M528I	HAP1_ENST00000310778.5_Missense_Mutation_p.M605I|HAP1_ENST00000347901.4_Missense_Mutation_p.M553I|HAP1_ENST00000341193.5_Missense_Mutation_p.M536I|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	605	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCACCACGTTCATCCGCGTTG	0.607													184	319					0	0	0	0	T	39881154	C	T	39881154	3	4	4	1	0	0	0	0	1	0	0	0	7003	826	29	2	204	2	HAP1	17	39881154	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	34121	39881154	41314056	286	1042											
HAP1	9001	broad.mit.edu	37	chr17	39881246	39881246	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttccatcaccccttcctCagccggcaccttcttggcag	5	11	6	19	1	4	0	2	0	2	0	6	0	6	0	6	2	1	2	6	2	0	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:39881246C>G	ENST00000393939.2	-	10	1501	c.1492G>C	c.(1492-1494)Gag>Cag	p.E498Q	HAP1_ENST00000310778.5_Missense_Mutation_p.E575Q|HAP1_ENST00000347901.4_Missense_Mutation_p.E523Q|HAP1_ENST00000341193.5_Missense_Mutation_p.E506Q|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	558	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCCCTTCCTCAGCCGGCACC	0.627													187	410					0	0	0	0	G	39881246	C	G	39881246	3	3	4	1	0	0	0	0	1	0	0	0	7003	835	29	2	296	2	HAP1	17	39881246	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	92	39881246	41313964	287	1043											
ETV4	2118	broad.mit.edu	37	chr17	41622708	41622708	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgggccgatcagcgcttCgcgcaagctcccatttccgg	6	7	12	16	6	1	0	1	0	0	0	4	1	3	0	3	2	3	3	3	2	1	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:41622708C>A	ENST00000319349.5	-	3	386	c.88G>T	c.(88-90)Gaa>Taa	p.E30*	ETV4_ENST00000538265.1_5'UTR|ETV4_ENST00000393664.2_Nonsense_Mutation_p.E30*|ETV4_ENST00000545089.1_Nonsense_Mutation_p.E30*|RP11-392O1.4_ENST00000588996.1_RNA|ETV4_ENST00000545954.1_5'UTR|ETV4_ENST00000591713.1_Nonsense_Mutation_p.E30*	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	30					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		ATCAGCGCTTCGCGCAAGCTC	0.647			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"								7	19					0.00198382	0.00203006	1	0	A	41622708	C	A	41622708	4	1	4	1	0	0	0	0	0	1	0	0	5319	893	31	3	1410	3	ETV4	17	41622708	Nonsense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1741462	41622708	39572502	288	1044											
CCDC43	124808	broad.mit.edu	37	chr17	42757999	42757999	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagcacctgaatcatccttCtcatctgcttcagtaagtga	10	13	7	11	0	4	2	3	2	2	0	6	2	5	2	2	0	2	4	2	0	3	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:42757999C>G	ENST00000315286.8	-	4	449	c.441G>C	c.(439-441)gaG>gaC	p.E147D	C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000457422.2_Intron|CCDC43_ENST00000588210.1_Missense_Mutation_p.E150D	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	147										lung(2)	2		Prostate(33;0.0322)				AATCATCCTTCTCATCTGCTT	0.408													26	165					0	0	0	0	G	42757999	C	G	42757999	3	3	4	1	0	0	0	0	1	0	0	0	2842	912	32	2	241	2	CCDC43	17	42757999	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1135291	42757999	38437211	289	1045											
INTS2	57508	broad.mit.edu	37	chr17	59968949	59968949	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggcttctggattagatttCgacgcaggagtaagtataga	11	12	13	5	2	1	2	0	0	1	2	2	5	1	4	0	3	0	4	0	3	4	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:59968949C>T	ENST00000444766.3	-	14	1899	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	INTS2_ENST00000251334.6_Silent_p.S600S	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	608					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.S608S(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GATTAGATTTCGACGCAGGAG	0.373													66	114					0	0	0	0	T	59968949	C	T	59968949	2	4	4	1	0	0	0	0	0	0	0	1	7831	871	31	1		1	INTS2	17	59968949	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	17210950	59968949	21226261	290	1046											
MED13	9969	broad.mit.edu	37	chr17	60060429	60060429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaaaagaagtatgagtttGaggtgtataagcagtgccat	14	10	11	6	0	0	3	0	2	0	1	0	3	0	3	2	1	2	4	2	1	6	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:60060429G>C	ENST00000397786.2	-	16	3011	c.2935C>G	c.(2935-2937)Caa>Gaa	p.Q979E		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	979					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTATGAGTTTGAGGTGTATAA	0.418													9	62					0	0	0	0	C	60060429	G	C	60060429	3	2	4	1	0	0	0	0	1	0	0	0	9499	1299	45	2	3649	2	MED13	17	60060429	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	91480	60060429	21134781	291	1047											
MRC2	9902	broad.mit.edu	37	chr17	60758228	60758228	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcaccactccacgtgggcGcaggcgcagcgcatctgcac	8	4	13	16	4	1	0	0	0	1	0	2	1	2	0	2	2	3	5	2	2	0	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:60758228G>A	ENST00000303375.5	+	17	2943	c.2541G>A	c.(2539-2541)gcG>gcA	p.A847A		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	847	C-type lectin 5.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCACGTGGGCGCAGGCGCAGC	0.667													3	46					0	0	0	0	A	60758228	G	A	60758228	2	1	4	1	0	0	0	0	0	0	0	1	9828	1074	38	1		1	MRC2	17	60758228	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	697799	60758228	20436982	292	1048											
MARCH10	162333	broad.mit.edu	37	chr17	60814396	60814396	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgctgttcaatgacaaaatgGaataaaagtcttcatctcgg	14	12	8	7	1	4	1	2	1	2	0	5	2	4	2	0	2	1	2	0	2	6	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:60814396G>C	ENST00000544856.2	-	7	1208	c.830C>G	c.(829-831)tCc>tGc	p.S277C	RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.S278C|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.S278C|MARCH10_ENST00000583600.1_Missense_Mutation_p.S316C			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	278							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TGACAAAATGGAATAAAAGTC	0.488													101	376					0	0	0	0	C	60814396	G	C	60814396	3	2	4	1	0	0	0	0	1	0	0	0	9368	1174	41	2	1617	2	MARCH10	17	60814396	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	56168	60814396	20380814	293	1049											
RECQL5	9400	broad.mit.edu	37	chr17	73658604	73658604	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttaaggcagaagtccttCaggttcccatagggatcaga	11	9	11	10	0	2	2	2	0	0	2	4	3	4	3	3	3	0	2	3	3	3	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:73658604C>T	ENST00000420326.2	-	4	885	c.726G>A	c.(724-726)ctG>ctA	p.L242L	RECQL5_ENST00000340830.5_Silent_p.L242L|RECQL5_ENST00000317905.5_Silent_p.L242L|RECQL5_ENST00000584999.1_Silent_p.L242L|RECQL5_ENST00000423245.2_Silent_p.L215L	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	242	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGAAGTCCTTCAGGTTCCCAT	0.512								Other identified genes with known or suspected DNA repair function					223	410					0	0	0	0	T	73658604	C	T	73658604	2	4	4	1	0	0	0	0	0	0	0	1	13285	813	29	2		2	RECQL5	17	73658604	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	12844208	73658604	7536606	294	1050											
CIDEA	1149	broad.mit.edu	37	chr18	12264384	12264384	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgtggtggacacagaaGagttctttcagaccttggga	10	9	13	9	1	2	3	1	0	1	3	2	5	2	5	2	3	0	2	2	3	1	3	rs139948292		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:12264384G>T	ENST00000320477.9	+	3	327	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	88	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GGACACAGAAGAGTTCTTTCA	0.512													33	64					1.61788e-16	1.75804e-16	1	0	T	12264384	G	T	12264384	4	4	4	1	0	0	0	0	0	1	0	0	3454	943	33	2	416	2	CIDEA	18	12264384	Nonsense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08		12264384	65812864	295	1051											
CTAGE1	64693	broad.mit.edu	37	chr18	19996658	19996658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctaaccggcatttttcctCtactattaatttcctgtaga	9	17	4	11	1	2	1	0	0	2	1	4	1	4	1	3	1	2	2	3	1	5	8			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:19996658C>T	ENST00000391403.2	-	1	1220	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	373						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CATTTTTCCTCTACTATTAAT	0.368													17	109					0	0	0	0	T	19996658	C	T	19996658	3	4	4	1	0	0	0	0	1	0	0	0	4024	922	32	2	1124	2	CTAGE1	18	19996658	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	7732274	19996658	58080590	296	1052											
C18orf21	83608	broad.mit.edu	37	chr18	33554876	33554876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagatgataagagcacttttGaagaaacgtgtccatactgt	14	12	9	6	1	0	5	0	2	0	3	1	5	1	5	1	0	3	1	1	0	5	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:33554876G>C	ENST00000592875.1	+	3	764	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	C18orf21_ENST00000333234.5_5'UTR	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	40										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						GAGCACTTTTGAAGAAACGTG	0.353													25	118					0	0	0	0	C	33554876	G	C	33554876	3	2	4	1	0	0	0	0	1	0	0	0	1914	1291	45	2	128	2	C18orf21	18	33554876	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	13558218	33554876	44522372	297	1053											
SERPINB3	6317	broad.mit.edu	37	chr18	61328411	61328411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctgaactgttggaacaggtCgaacatgaacttggtgttgg	10	12	13	6	1	1	2	0	2	1	0	2	4	1	3	0	4	4	2	0	4	4	3	rs148776258	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:61328411C>G	ENST00000283752.5	-	2	183	c.40G>C	c.(40-42)Gac>Cac	p.D14H	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.D14H	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	14					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGGAACAGGTCGAACATGAAC	0.428													87	226					0	0	0	0	G	61328411	C	G	61328411	3	3	4	1	0	0	0	0	1	0	0	0	14189	884	31	3	1160	3	SERPINB3	18	61328411	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	27773535	61328411	16748837	298	1054											
GNA15	2769	broad.mit.edu	37	chr19	3148635	3148635	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatcaagcagatgcggatCatccacggcgccggctactc	9	8	10	14	4	3	1	3	0	0	1	5	2	4	2	2	3	3	2	2	3	2	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:3148635C>T	ENST00000262958.3	+	2	450	c.192C>T	c.(190-192)atC>atT	p.I64I	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	64					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		AGATGCGGATCATCCACGGCG	0.657													4	8					0	0	0	0	T	3148635	C	T	3148635	2	4	4	1	0	0	0	0	0	0	0	1	6554	816	29	2		2	GNA15	19	3148635	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08		3148635	55980348	299	1055											
PTPRS	5802	broad.mit.edu	37	chr19	5274263	5274263	+	Missense_Mutation	SNP	G	G	A																															cttgttccaggtcactcgtgGcttggggtcacccgtggcct																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:5274263G>A	ENST00000372412.4	-	3	417	c.184C>T	c.(184-186)Cca>Tca	p.P62S	PTPRS_ENST00000588012.1_Missense_Mutation_p.P62S|PTPRS_ENST00000590509.1_Missense_Mutation_p.P62S|PTPRS_ENST00000357368.4_Missense_Mutation_p.P62S|PTPRS_ENST00000587303.1_Missense_Mutation_p.P62S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P62S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P62S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.P62S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P62S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	62	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTCACTCGTGGCTTGGGGTCA	0.607													20	50					0	0	0	0	A	5274263	G	A	5274263	3	1	4	1	0	0	0	0	1	0	0	0	12893	1203	42	4	5806	4	PTPRS	19	5274263	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2125628	5274263	53854720	300	1056	18	2									
PTPRS	5802	broad.mit.edu	37	chr19	5274264	5274264	+	Missense_Mutation	SNP	C	C	A																															ttgttccaggtcactcgtggCttggggtcacccgtggcctg																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:5274264C>A	ENST00000372412.4	-	3	416	c.183G>T	c.(181-183)aaG>aaT	p.K61N	PTPRS_ENST00000588012.1_Missense_Mutation_p.K61N|PTPRS_ENST00000590509.1_Missense_Mutation_p.K61N|PTPRS_ENST00000357368.4_Missense_Mutation_p.K61N|PTPRS_ENST00000587303.1_Missense_Mutation_p.K61N|PTPRS_ENST00000348075.2_Missense_Mutation_p.K61N|PTPRS_ENST00000353284.2_Missense_Mutation_p.K61N|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.K61N|PTPRS_ENST00000592099.1_Missense_Mutation_p.K61N			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	61	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCACTCGTGGCTTGGGGTCAC	0.602													20	52					2.4624e-09	2.59231e-09	1	0	A	5274264	C	A	5274264	3	1	4	1	0	0	0	0	1	0	0	0	12893	796	28	4	5807	4	PTPRS	19	5274264	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1	5274264	53854719	301	1057	18	2									
CAPS	828	broad.mit.edu	37	chr19	5914740	5914740	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatctggaggagttccttCgggcgctgcgggtgagcccc	4	9	17	11	3	1	1	0	1	1	0	3	4	2	4	3	5	2	2	3	5	0	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:5914740C>A	ENST00000588776.1	+	3	2875	c.508C>A	c.(508-510)Cgg>Agg	p.R170R	CAPS_ENST00000222125.5_Silent_p.R84R|CAPS_ENST00000452990.2_Silent_p.R84R			Q13938	CAYP1_HUMAN	calcyphosine	84	EF-hand 4.				intracellular signal transduction	cytoplasm	calcium ion binding			cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						GGAGTTCCTTCGGGCGCTGCG	0.667													30	109					2.61193e-14	2.80352e-14	1	0	A	5914740	C	A	5914740	2	1	4	1	0	0	0	0	0	0	0	1	2662	875	31	3		3	CAPS	19	5914740	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	640476	5914740	53214243	302	1058											
MYO1F	4542	broad.mit.edu	37	chr19	8601428	8601428	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcggtaggcgaagccggctCtgcgcaccctgatgttctcc	5	8	14	14	4	2	1	0	1	2	0	3	2	2	1	3	4	2	4	3	4	2	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:8601428C>G	ENST00000338257.8	-	18	2120	c.1853G>C	c.(1852-1854)aGa>aCa	p.R618T		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	618	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GAAGCCGGCTCTGCGCACCCT	0.652													39	81					0	0	0	0	G	8601428	C	G	8601428	3	3	4	1	0	0	0	0	1	0	0	0	10143	913	32	2	1487	2	MYO1F	19	8601428	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	2686688	8601428	50527555	303	1059											
ZNF559	84527	broad.mit.edu	37	chr19	9452472	9452472	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggagaacttactttagAaagaaaacctgtgagtgtaa	17	9	9	6	0	0	4	0	1	0	3	0	5	0	4	1	1	3	1	1	1	7	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:9452472A>G	ENST00000393883.2	+	6	993	c.345A>G	c.(343-345)agA>agG	p.R115R	ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000587557.1_Silent_p.R179R|ZNF559_ENST00000585352.1_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.R35R|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Silent_p.R115R|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000592504.1_3'UTR	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CTTACTTTAGAAAGAAAACCT	0.373													10	82					0	0	0	0	G	9452472	A	G	9452472	2	3	4	1	0	0	0	0	0	0	0	1	18085	243	9	5		5	ZNF559	19	9452472	Silent	SNP	A	TCGA-BA-4077-01B-01D-1434-08	851044	9452472	49676511	304	1060											
ICAM1	3383	broad.mit.edu	37	chr19	10395132	10395132	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggtctcagaagggaccGaggtgacagtgaagtgtgag	12	6	17	6	1	1	5	1	3	1	2	2	7	1	6	1	3	0	0	1	3	2	0	rs143008699		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:10395132G>T	ENST00000264832.3	+	5	1304	c.979G>T	c.(979-981)Gag>Tag	p.E327*	ICAM1_ENST00000423829.2_Nonsense_Mutation_p.E105*|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	327	Ig-like C2-type 4.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	p.E327K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	AGAAGGGACCGAGGTGACAGT	0.642													44	91					1.41504e-22	1.57665e-22	1	0	T	10395132	G	T	10395132	4	4	4	1	0	0	0	0	0	1	0	0	7532	1059	37	3	997	3	ICAM1	19	10395132	Nonsense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	942660	10395132	48733851	305	1061											
LDLR	3949	broad.mit.edu	37	chr19	11231182	11231182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctgctggccagggacatGaggagctgcctcacaggtgt	8	8	15	10	0	1	1	1	1	0	0	1	3	1	3	2	4	4	3	2	4	0	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:11231182G>A	ENST00000558518.1	+	14	2311	c.2124G>A	c.(2122-2124)atG>atA	p.M708I	LDLR_ENST00000455727.2_Missense_Mutation_p.M540I|LDLR_ENST00000557933.1_Missense_Mutation_p.M708I|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.M667I|LDLR_ENST00000558013.1_Missense_Mutation_p.M708I	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	708	EGF-like 3.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CCAGGGACATGAGGAGCTGCC	0.627													12	67					0	0	0	0	A	11231182	G	A	11231182	3	1	4	1	0	0	0	0	1	0	0	0	8757	1290	45	2	2178	2	LDLR	19	11231182	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	836050	11231182	47897801	306	1062											
USE1	55850	broad.mit.edu	37	chr19	17330509	17330509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agacggagtcagagcgtctgGagcagcacacgcagaagtca	13	4	14	10	3	3	3	2	0	1	3	3	5	3	5	0	2	3	3	0	2	1	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:17330509G>A	ENST00000445667.2	+	8	727	c.667G>A	c.(667-669)Gag>Aag	p.E223K	USE1_ENST00000379776.4_3'UTR|USE1_ENST00000596136.1_3'UTR|USE1_ENST00000263897.5_Missense_Mutation_p.E223K			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	223					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						AGAGCGTCTGGAGCAGCACAC	0.522													32	74					0	0	0	0	A	17330509	G	A	17330509	3	1	4	1	0	0	0	0	1	0	0	0	17127	1175	41	2	697	2	USE1	19	17330509	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	6099327	17330509	41798474	307	1063											
PLVAP	83483	broad.mit.edu	37	chr19	17476503	17476503	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgagcccaggggatggtaGaggttgtaacccaggttgtc	8	9	15	9	1	0	1	0	0	0	1	2	3	1	2	3	5	2	4	3	5	2	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:17476503G>C	ENST00000252590.4	-	3	832	c.771C>G	c.(769-771)ctC>ctG	p.L257L		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	257						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGATGGTAGAGGTTGTAAC	0.607													5	130					0	0	0	0	C	17476503	G	C	17476503	2	2	4	1	0	0	0	0	0	0	0	1	12188	929	33	2		2	PLVAP	19	17476503	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	145994	17476503	41652480	308	1064											
CILP2	148113	broad.mit.edu	37	chr19	19656361	19656361	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgggatgctgttcgaccagCggcaggtggacaggacgctg	7	6	18	10	4	0	0	0	0	0	0	1	4	0	3	1	5	2	4	1	5	0	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:19656361C>A	ENST00000586018.1	+	8	3127	c.3025C>A	c.(3025-3027)Cgg>Agg	p.R1009R	CILP2_ENST00000291495.4_Silent_p.R1003R			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1003						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GTTCGACCAGCGGCAGGTGGA	0.682													16	15					5.35267e-07	5.58152e-07	1	0	A	19656361	C	A	19656361	2	1	4	1	0	0	0	0	0	0	0	1	3459	759	27	3		3	CILP2	19	19656361	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	2179858	19656361	39472622	309	1065											
ZNF486	90649	broad.mit.edu	37	chr19	20308540	20308540	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcgatccttagtaaacatGagaagattcatacgggagag	14	9	10	8	2	1	3	1	1	0	3	3	6	2	3	2	1	2	1	2	1	5	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:20308540G>C	ENST00000335117.8	+	4	1078	c.1021G>C	c.(1021-1023)Gag>Cag	p.E341Q	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TAGTAAACATGAGAAGATTCA	0.398													23	53					0	0	0	0	C	20308540	G	C	20308540	3	2	4	1	0	0	0	0	1	0	0	0	18034	1291	45	2	1035	2	ZNF486	19	20308540	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	652179	20308540	38820443	310	1066											
NUDT19	390916	broad.mit.edu	37	chr19	33183421	33183421	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgcggctgtgcgcccacctCgactgcacacccgacatctg	6	7	10	18	4	1	0	0	0	1	0	2	2	1	0	3	1	3	2	3	1	0	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:33183421C>G	ENST00000397061.3	+	1	555	c.555C>G	c.(553-555)ctC>ctG	p.L185L		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	185	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GCGCCCACCTCGACTGCACAC	0.721													5	8					0	0	0	0	G	33183421	C	G	33183421	2	3	4	1	0	0	0	0	0	0	0	1	10807	871	31	3		3	NUDT19	19	33183421	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	12874881	33183421	25945562	311	1067											
FFAR2	2867	broad.mit.edu	37	chr19	35941408	35941408	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgtggtgttcagttcactCaacgccagtctggaccccct	6	10	10	15	2	4	0	3	0	1	0	4	1	4	1	4	2	1	2	4	2	1	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:35941408C>G	ENST00000599180.1	+	2	872	c.792C>G	c.(790-792)ctC>ctG	p.L264L	FFAR2_ENST00000246549.2_Silent_p.L264L|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	264						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCAGTTCACTCAACGCCAGTC	0.582													53	196					0	0	0	0	G	35941408	C	G	35941408	2	3	4	1	0	0	0	0	0	0	0	1	5873	813	29	2		2	FFAR2	19	35941408	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	2757987	35941408	23187575	312	1068											
ARHGAP33	115703	broad.mit.edu	37	chr19	36278704	36278704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggcccccctgcaccactCgacaggggagagaacctgta	9	5	12	15	1	0	1	0	0	0	1	1	4	0	2	5	3	2	2	5	3	2	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:36278704C>T	ENST00000007510.4	+	21	3381	c.3237C>T	c.(3235-3237)ctC>ctT	p.L1079L	ARHGAP33_ENST00000378944.5_Silent_p.L915L|ARHGAP33_ENST00000314737.5_Silent_p.L918L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1079					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGCACCACTCGACAGGGGAG	0.672													39	100					0	0	0	0	T	36278704	C	T	36278704	2	4	4	1	0	0	0	0	0	0	0	1	884	871	31	1		1	ARHGAP33	19	36278704	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	337296	36278704	22850279	313	1069											
FCGBP	8857	broad.mit.edu	37	chr19	40357470	40357470	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gttttgccatggcagatctgGacttcggcaactacacggta	9	11	11	10	2	1	1	0	0	1	1	2	2	1	2	1	4	3	4	1	4	3	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:40357470G>C	ENST00000221347.6	-	34	15850	c.15843C>G	c.(15841-15843)gtC>gtG	p.V5281V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5281	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCAGATCTGGACTTCGGCAA	0.572													10	76					0	0	0	0	C	40357470	G	C	40357470	2	2	4	1	0	0	0	0	0	0	0	1	5823	1161	41	2		2	FCGBP	19	40357470	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	4078766	40357470	18771513	314	1070											
IRGQ	126298	broad.mit.edu	37	chr19	44097009	44097009	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctctcgcccttgggattCtccatcttgccttctcccag	5	13	7	16	1	4	0	0	0	4	0	7	1	4	1	4	1	2	1	4	1	1	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:44097009C>G	ENST00000422989.1	-	3	1196	c.1041G>C	c.(1039-1041)gaG>gaC	p.E347D	IRGQ_ENST00000602269.1_Missense_Mutation_p.E347D|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000601520.1_5'UTR	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	347							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCTTGGGATTCTCCATCTTGC	0.587													8	359					0	0	0	0	G	44097009	C	G	44097009	3	3	4	1	0	0	0	0	1	0	0	0	7892	912	32	2	834	2	IRGQ	19	44097009	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	3739539	44097009	15031974	315	1071											
ZNF331	55422	broad.mit.edu	37	chr19	54080952	54080952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgagagaatccacacaggcGaaaccccgtataaatgtaag	17	5	9	10	3	0	1	0	0	0	1	1	4	1	1	3	1	1	2	3	1	6	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:54080952G>A	ENST00000253144.9	+	7	2471	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	ZNF331_ENST00000511593.2_Missense_Mutation_p.E380K|ZNF331_ENST00000411977.2_Missense_Mutation_p.E380K|ZNF331_ENST00000511154.1_Missense_Mutation_p.E380K|ZNF331_ENST00000513999.1_Missense_Mutation_p.E380K|ZNF331_ENST00000512387.1_Missense_Mutation_p.E380K|ZNF331_ENST00000449416.1_Missense_Mutation_p.E380K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CCACACAGGCGAAACCCCGTA	0.498			T	?	follicular thyroid adenoma								31	56					0	0	0	0	A	54080952	G	A	54080952	3	1	4	1	0	0	0	0	1	0	0	0	17944	1059	37	1	1148	1	ZNF331	19	54080952	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	9983943	54080952	5048031	316	1072											
LILRB5	10990	broad.mit.edu	37	chr19	54758747	54758747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctataagactggtactttGactttagacacagcggggga	11	11	12	7	1	1	3	0	1	1	2	1	4	1	4	0	3	2	1	0	3	4	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:54758747G>A	ENST00000450632.1	-	6	1156	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	LILRB5_ENST00000316219.5_Missense_Mutation_p.S369L|LILRB5_ENST00000449561.2_Missense_Mutation_p.S369L|LILRB5_ENST00000345866.6_Missense_Mutation_p.S269L			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	369	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGTACTTTGACTTTAGACA	0.527													7	84					0	0	0	0	A	54758747	G	A	54758747	3	1	4	1	0	0	0	0	1	0	0	0	8848	1294	45	2	701	2	LILRB5	19	54758747	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	677795	54758747	4370236	317	1073											
ZNF628	89887	broad.mit.edu	37	chr19	55994342	55994342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacacgggcgagcggcccttCcgctgcccgctctgccccaa	5	5	11	20	5	1	0	0	0	1	0	2	1	2	0	5	2	3	2	5	2	1	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:55994342C>A	ENST00000598519.1	+	3	2335	c.1782C>A	c.(1780-1782)ttC>ttA	p.F594L	ZNF628_ENST00000391718.2_Missense_Mutation_p.F590L	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	590						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AGCGGCCCTTCCGCTGCCCGC	0.711													4	29					0.00909568	0.00926451	1	0	A	55994342	C	A	55994342	3	1	4	1	0	0	0	0	1	0	0	0	18147	854	30	2	1772	2	ZNF628	19	55994342	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1235595	55994342	3134641	318	1074											
ZNF835	90485	broad.mit.edu	37	chr19	57175754	57175754	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagggcttctcctccgtgtgGatgcgctggtggcggatgag	4	11	17	9	3	1	1	0	1	1	0	3	3	2	3	2	5	1	2	2	5	1	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:57175754G>A	ENST00000537055.2	-	2	1044	c.813C>T	c.(811-813)atC>atT	p.I271I		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCTCCGTGTGGATGCGCTGGT	0.682													6	4					0	0	0	0	A	57175754	G	A	57175754	2	1	4	1	0	0	0	0	0	0	0	1	18279	1164	41	2		2	ZNF835	19	57175754	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1181412	57175754	1953229	319	1075											
ZIK1	284307	broad.mit.edu	37	chr19	58101557	58101557	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagaaaccatacttggtTggagaatgtacaaaccatca	15	8	10	8	0	1	2	1	0	0	2	1	3	1	2	2	3	4	3	2	3	5	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:58101557T>G	ENST00000597850.1	+	4	593	c.378T>G	c.(376-378)gtT>gtG	p.V126V	ZIK1_ENST00000599456.1_Silent_p.V71V|ZIK1_ENST00000536878.2_Silent_p.V113V|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	126	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CATACTTGGTTGGAGAATGTA	0.463													41	84					0	0	0	0	G	58101557	T	G	58101557	2	3	4	1	0	0	0	0	0	0	0	1	17778	1799	63	5		5	ZIK1	19	58101557	Silent	SNP	T	TCGA-BA-4077-01B-01D-1434-08	925803	58101557	1027426	320	1076											
SNTA1	6640	broad.mit.edu	37	chr20	32026798	32026798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaatcccttgaagatcttGgaaatgagaataggcatctt	13	11	9	8	0	2	3	0	2	2	2	3	5	3	4	2	2	0	1	2	2	5	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:32026798G>A	ENST00000217381.2	-	2	616	c.345C>T	c.(343-345)tcC>tcT	p.S115S		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	115	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TGAAGATCTTGGAAATGAGAA	0.517													15	214					0	0	0	0	A	32026798	G	A	32026798	2	1	4	1	0	0	0	0	0	0	0	1	14959	1335	47	4		4	SNTA1	20	32026798	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08		32026798	30998722	321	1077											
EDEM2	55741	broad.mit.edu	37	chr20	33730263	33730263	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaccactctttggaattCtgagacattccccaaaatct	12	13	4	12	0	4	1	1	1	3	1	5	3	5	2	3	1	1	0	3	1	4	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:33730263C>A	ENST00000540582.1	-	8	875	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000374492.3_Nonsense_Mutation_p.E93*|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374491.2_Nonsense_Mutation_p.E56*			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	93					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTTTGGAATTCTGAGACATTC	0.448													14	65					2.32078e-09	2.4491e-09	1	0	A	33730263	C	A	33730263	4	1	4	1	0	0	0	0	0	1	0	0	4948	922	32	2	1491	2	EDEM2	20	33730263	Nonsense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1703465	33730263	29295257	322	1078											
NDRG3	57446	broad.mit.edu	37	chr20	35299789	35299789	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtccacaacattggttgtCaggccagagagctgaaaaga	14	8	11	8	0	1	3	1	1	0	2	2	4	2	3	2	2	2	2	2	2	3	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:35299789C>G	ENST00000373803.2	-	9	599	c.543G>C	c.(541-543)ctG>ctC	p.L181L	NDRG3_ENST00000349004.1_Silent_p.L181L|NDRG3_ENST00000373773.3_Silent_p.L86L|NDRG3_ENST00000359675.2_Silent_p.L169L|NDRG3_ENST00000540765.1_Silent_p.L77L			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	181					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CATTGGTTGTCAGGCCAGAGA	0.378													35	56					0	0	0	0	G	35299789	C	G	35299789	2	3	4	1	0	0	0	0	0	0	0	1	10323	813	29	2		2	NDRG3	20	35299789	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1569526	35299789	27725731	323	1079											
SLC32A1	140679	broad.mit.edu	37	chr20	37356988	37356988	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacagcggcgacgggcgcctGaagtcctgggggctgacgct	6	6	17	12	5	0	2	0	2	0	0	1	3	1	2	2	4	2	2	2	4	2	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:37356988G>A	ENST00000217420.1	+	2	1547	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	428					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ACGGGCGCCTGAAGTCCTGGG	0.652													13	40					0	0	0	0	A	37356988	G	A	37356988	2	1	4	1	0	0	0	0	0	0	0	1	14653	1277	45	2		2	SLC32A1	20	37356988	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2057199	37356988	25668532	324	1080											
PPP1R16B	26051	broad.mit.edu	37	chr20	37535627	37535627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgtgtttcagatgcaGatggcagagctattggtgtc	7	14	12	8	0	1	3	1	0	0	3	3	3	2	3	1	2	2	4	1	2	1	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:37535627G>T	ENST00000299824.1	+	8	1017	c.828G>T	c.(826-828)caG>caT	p.Q276H	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.Q234H	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	276					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TTCAGATGCAGATGGCAGAGC	0.532													17	163					4.63292e-17	5.07195e-17	1	0	T	37535627	G	T	37535627	3	4	4	1	0	0	0	0	1	0	0	0	12442	933	33	2	854	2	PPP1R16B	20	37535627	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	178639	37535627	25489893	325	1081											
TOP1	7150	broad.mit.edu	37	chr20	39742733	39742733	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtcaggaatatgtggtaGagtttgacttcctcgggaag	10	12	14	5	1	1	2	1	1	0	1	3	4	2	4	1	4	0	2	1	4	4	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:39742733G>C	ENST00000361337.2	+	15	1826	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	526					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	ATATGTGGTAGAGTTTGACTT	0.468			T	NUP98	AML*								10	157					0	0	0	0	C	39742733	G	C	39742733	3	2	4	1	0	0	0	0	1	0	0	0	16458	943	33	2	1634	2	TOP1	20	39742733	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2207106	39742733	23282787	326	1082											
ADNP	23394	broad.mit.edu	37	chr20	49510939	49510939	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	taggggcaattaaggagaatCctattttcaaagtcttcact	13	13	8	7	0	3	1	2	0	1	1	4	2	4	1	1	3	0	1	1	3	6	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:49510939C>G	ENST00000396029.3	-	5	879	c.312G>C	c.(310-312)agG>agC	p.R104S	ADNP_ENST00000349014.3_Missense_Mutation_p.R104S|ADNP_ENST00000371602.4_Missense_Mutation_p.R104S|ADNP_ENST00000396032.3_Missense_Mutation_p.R104S	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	104						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TAAGGAGAATCCTATTTTCAA	0.408													32	160					0	0	0	0	G	49510939	C	G	49510939	3	3	4	1	0	0	0	0	1	0	0	0	323	854	30	2	3000	2	ADNP	20	49510939	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	9768206	49510939	13514581	327	1083											
PRPF6	24148	broad.mit.edu	37	chr20	62648154	62648154	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgtgattgggattgggattGaggaggaagatcggaagcat	11	9	17	4	2	0	3	0	2	0	1	1	8	0	8	1	5	1	1	1	5	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:62648154G>C	ENST00000535781.1	+	12	1714	c.1603G>C	c.(1603-1605)Gag>Cag	p.E535Q	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	535					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GATTGGGATTGAGGAGGAAGA	0.542													7	75					0	0	0	0	C	62648154	G	C	62648154	3	2	4	1	0	0	0	0	1	0	0	0	12654	1291	45	2	1649	2	PRPF6	20	62648154	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	13137215	62648154	377366	328	1084											
TCEA2	6919	broad.mit.edu	37	chr20	62701226	62701226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctggtggagtcaggaggCtgcctggcctggtgccctct	3	12	15	11	0	3	0	1	0	2	0	3	2	3	2	3	6	2	1	3	6	0	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:62701226C>T	ENST00000395053.3	+	6	724	c.569C>T	c.(568-570)gCt>gTt	p.A190V	TCEA2_ENST00000361317.2_Intron|TCEA2_ENST00000343484.5_Intron|TCEA2_ENST00000465111.1_3'UTR			Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	0	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					AGTCAGGAGGCTGCCTGGCCT	0.652											OREG0026140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	35					0	0	0	0	T	62701226	C	T	62701226	3	4	4	1	0	0	0	0	1	0	0	0	15762	812	28	4		4	TCEA2	20	62701226	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	53072	62701226	324294	329	1085											
TPTE	7179	broad.mit.edu	37	chr21	10959802	10959802	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaagtcgtgctaacacacTttagccaccaaaaaaaaagc	18	6	7	10	1	0	0	0	0	0	0	1	1	0	1	2	1	4	1	2	1	7	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:10959802T>C	ENST00000298232.7	-	7	487		c.e7-2		TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000361285.4_Splice_Site|TPTE_ENST00000342420.5_Intron	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTAACACACTTTAGCCACCA	0.318													23	91					0	0	0	0	C	10959802	T	C	10959802	5	2	4	1	0	0	0	0	0	0	1	0	16525	1623	56	5	1551	5	TPTE	21	10959802	Splice_Site	SNP	T	TCGA-BA-4077-01B-01D-1434-08		10959802	37170093	330	1086											
BAGE2	85319	broad.mit.edu	37	chr21	11038916	11038916	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaggtgttggggaggaaGacacatctgccttgcttatg	11	10	14	6	0	1	2	0	0	1	2	1	4	1	4	1	4	2	2	1	4	4	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:11038916G>A	ENST00000470054.1	-	0	1287									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGGGAGGAAGACACATCTGC	0.428													47	412					0	0	0	0	A	11038916	G	A	11038916	1	1	4	0	1	0	0	0	0	0	0	0	1296	957	33	2		2	BAGE2	21	11038916	RNA	SNP	G	TCGA-BA-4077-01B-01D-1434-08	79114	11038916	37090979	331	1087											
KCNJ15	3772	broad.mit.edu	37	chr21	39671931	39671931	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagagccccttcctcattCtgcccatgacattctaccat	8	12	5	16	0	3	2	1	2	2	1	4	3	4	2	5	0	3	0	5	0	1	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:39671931C>T	ENST00000398930.1	+	4	1102	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	KCNJ15_ENST00000398932.1_Silent_p.L250L|KCNJ15_ENST00000398934.1_Silent_p.L250L|KCNJ15_ENST00000398938.2_Silent_p.L250L|KCNJ15_ENST00000328656.3_Silent_p.L250L			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	250					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CTTCCTCATTCTGCCCATGAC	0.557													35	66					0	0	0	0	T	39671931	C	T	39671931	2	4	4	1	0	0	0	0	0	0	0	1	8102	912	32	2		2	KCNJ15	21	39671931	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	28633015	39671931	8457964	332	1088											
COL6A1	1291	broad.mit.edu	37	chr21	47422131	47422131	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctgccctttgctatgcaGagccatcaagagcctgcagt	8	11	9	13	0	1	2	1	0	0	2	2	2	2	2	4	0	6	3	4	0	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:47422131G>C	ENST00000361866.3	+	32	2180		c.e32-1		COL6A1_ENST00000498614.1_Splice_Site	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1						axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TTGCTATGCAGAGCCATCAAG	0.711													2	13					0	0	0	0	C	47422131	G	C	47422131	5	2	4	1	0	0	0	0	0	0	1	0	3729	956	33	2	2192	2	COL6A1	21	47422131	Splice_Site	SNP	G	TCGA-BA-4077-01B-01D-1434-08	7750200	47422131	707764	333	1089											
LSS	4047	broad.mit.edu	37	chr21	47636350	47636350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccgcggcactcagccgaaCggcgtagcagtagctcatgg	8	7	13	13	5	2	0	2	0	0	0	3	1	3	0	2	3	4	5	2	3	3	3	rs150614553		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:47636350C>T	ENST00000397728.3	-	7	814	c.736G>A	c.(736-738)Gtt>Att	p.V246I	LSS_ENST00000457828.2_Missense_Mutation_p.V166I|LSS_ENST00000356396.4_Missense_Mutation_p.V246I|LSS_ENST00000522411.1_Missense_Mutation_p.V235I|LSS_ENST00000464357.1_5'UTR	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	246					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CTCAGCCGAACGGCGTAGCAG	0.652													34	48					0	0	0	0	T	47636350	C	T	47636350	3	4	4	1	0	0	0	0	1	0	0	0	9129	536	19	1	1526	1	LSS	21	47636350	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	214219	47636350	493545	334	1090											
CABIN1	23523	broad.mit.edu	37	chr22	24439409	24439409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcaacctctggtataagaTtggacatgtggccctgaggc	9	11	12	9	0	2	2	1	1	1	1	2	3	2	3	2	4	1	1	2	4	3	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:24439409T>C	ENST00000398319.2	+	6	774	c.389T>C	c.(388-390)aTt>aCt	p.I130T	CABIN1_ENST00000263119.5_Missense_Mutation_p.I130T|CABIN1_ENST00000405822.2_Missense_Mutation_p.I130T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	130					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGGTATAAGATTGGACATGTG	0.552													43	111					0	0	0	0	C	24439409	T	C	24439409	3	2	4	1	0	0	0	0	1	0	0	0	2553	1493	52	5	407	5	CABIN1	22	24439409	Missense_Mutation	SNP	T	TCGA-BA-4077-01B-01D-1434-08		24439409	26865157	335	1091											
SUSD2	56241	broad.mit.edu	37	chr22	24580746	24580746	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccctcaggaatgccctactCacaggagtggactgcaaagt	11	8	10	12	0	2	0	2	0	0	0	3	3	3	3	2	3	3	1	2	3	3	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:24580746C>G	ENST00000358321.3	+	5	881	c.620C>G	c.(619-621)tCa>tGa	p.S207*		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	207					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ATGCCCTACTCACAGGAGTGG	0.607													11	52					0	0	0	0	G	24580746	C	G	24580746	4	3	4	1	0	0	0	0	0	1	0	0	15498	838	29	2	638	2	SUSD2	22	24580746	Nonsense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	141337	24580746	26723820	336	1092											
TBC1D10A	83874	broad.mit.edu	37	chr22	30689980	30689980	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcgggagaaggcgcacatGaaccattctgtcatatagag	12	9	12	8	2	2	3	1	1	1	2	3	4	2	3	1	2	1	2	1	2	4	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:30689980G>A	ENST00000215790.7	-	7	989	c.825C>T	c.(823-825)ttC>ttT	p.F275F	RP1-130H16.18_ENST00000447976.1_Silent_p.F149F|TBC1D10A_ENST00000403477.3_Silent_p.F282F|TBC1D10A_ENST00000403362.1_Silent_p.F187F	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	275	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGCGCACATGAACCATTCTG	0.592													22	152					0	0	0	0	A	30689980	G	A	30689980	2	1	4	1	0	0	0	0	0	0	0	1	15689	1281	45	2		2	TBC1D10A	22	30689980	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	6109234	30689980	20614586	337	1093											
DEPDC5	9681	broad.mit.edu	37	chr22	32210996	32210996	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatctgtgcgagagcgagaGagtcacagtcgaaagagtgc	13	6	15	7	3	2	4	1	0	1	4	3	8	2	4	0	0	3	0	0	0	1	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:32210996G>C	ENST00000400246.1	+	21	1606	c.1464G>C	c.(1462-1464)gaG>gaC	p.E488D	DEPDC5_ENST00000400242.3_Missense_Mutation_p.E488D|DEPDC5_ENST00000382105.2_Missense_Mutation_p.E488D|DEPDC5_ENST00000535622.1_Missense_Mutation_p.E488D|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E488D|DEPDC5_ENST00000400248.1_Missense_Mutation_p.E488D|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E488D|DEPDC5_ENST00000382112.3_Missense_Mutation_p.E488D|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E488D|DEPDC5_ENST00000536766.1_Missense_Mutation_p.E460D			O75140	DEPD5_HUMAN	DEP domain containing 5	488					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAGAGCGAGAGAGTCACAGTC	0.532													5	169					0	0	0	0	C	32210996	G	C	32210996	3	2	4	1	0	0	0	0	1	0	0	0	4479	933	33	2	1542	2	DEPDC5	22	32210996	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1521016	32210996	19093570	338	1094											
DEPDC5	9681	broad.mit.edu	37	chr22	32215016	32215016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gataactggcagatgtcctgGagaacatgatggagccacca	13	7	12	9	0	0	3	0	1	0	2	1	6	1	4	3	3	3	1	3	3	2	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:32215016G>A	ENST00000400246.1	+	22	1817	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	DEPDC5_ENST00000382105.2_Missense_Mutation_p.E559K|DEPDC5_ENST00000535622.1_Missense_Mutation_p.E559K|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E559K|DEPDC5_ENST00000400248.1_Missense_Mutation_p.E559K|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E559K|DEPDC5_ENST00000382112.3_Missense_Mutation_p.E559K|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E559K|DEPDC5_ENST00000536766.1_Missense_Mutation_p.E531K			O75140	DEPD5_HUMAN	DEP domain containing 5	559					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGATGTCCTGGAGAACATGAT	0.498													5	151					0	0	0	0	A	32215016	G	A	32215016	3	1	4	1	0	0	0	0	1	0	0	0	4479	1175	41	2	1775	2	DEPDC5	22	32215016	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	4020	32215016	19089550	339	1095											
TUBGCP6	85378	broad.mit.edu	37	chr22	50656807	50656807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagctgacggaactgcacaGagccggccatgtggctcagc	9	5	14	13	2	1	2	1	1	0	1	1	3	1	3	2	3	5	4	2	3	1	0			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:50656807G>A	ENST00000248846.5	-	23	5083	c.4979C>T	c.(4978-4980)tCt>tTt	p.S1660F	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1660					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GAACTGCACAGAGCCGGCCAT	0.657													14	59					0	0	0	0	A	50656807	G	A	50656807	3	1	4	1	0	0	0	0	1	0	0	0	16866	942	33	2	492	2	TUBGCP6	22	50656807	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	18441791	50656807	647759	340	1096											
MXRA5	25878	broad.mit.edu	37	chrX	3228112	3228112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtactccgtctccatcctgCatacataggtacccctgtca	8	11	6	16	2	2	0	1	0	1	0	5	0	4	0	5	1	4	3	5	1	4	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:3228112C>A	ENST00000217939.6	-	7	8286	c.8132G>T	c.(8131-8133)tGc>tTc	p.C2711F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2711	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTCCATCCTGCATACATAGGT	0.607													36	112					3.11337e-16	3.36643e-16	1	0	A	3228112	C	A	3228112	3	1	4	1	0	0	0	0	1	0	0	0	10073	710	25	4	358	4	MXRA5	23	3228112	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08		3228112	152042448	341	1097											
ARHGAP6	395	broad.mit.edu	37	chrX	11187736	11187736	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattctttgtctgatgacttCtgcttgtgcagcaggttggg	6	16	12	7	0	3	2	0	2	3	0	3	2	3	2	0	2	3	4	0	2	1	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:11187736C>G	ENST00000337414.4	-	9	2570	c.1698G>C	c.(1696-1698)caG>caC	p.Q566H	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q391H|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q375H|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q363H|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q566H|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q363H|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q598H	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	566	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGATGACTTCTGCTTGTGCA	0.438													29	214					0	0	0	0	G	11187736	C	G	11187736	3	3	4	1	0	0	0	0	1	0	0	0	889	912	32	2	1368	2	ARHGAP6	23	11187736	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	7959624	11187736	144082824	342	1098											
GEMIN8	54960	broad.mit.edu	37	chrX	14038649	14038649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctggtagctttcgatgttGatgcctacaaaatgaaagga	12	11	11	7	1	0	2	0	2	0	0	1	4	0	3	2	2	3	3	2	2	5	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:14038649G>A	ENST00000380523.4	-	4	338	c.20C>T	c.(19-21)tCa>tTa	p.S7L	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.S7L	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	7					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCGATGTTGATGCCTACAA	0.408													28	217					0	0	0	0	A	14038649	G	A	14038649	3	1	4	1	0	0	0	0	1	0	0	0	6385	1294	45	2	716	2	GEMIN8	23	14038649	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	2850913	14038649	141231911	343	1099											
GRPR	2925	broad.mit.edu	37	chrX	16142343	16142343	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctttgggagacctgctcctCctaataacgtgtgctccagt	7	12	10	12	1	0	1	0	0	0	1	3	2	3	1	4	1	3	3	4	1	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:16142343C>T	ENST00000380289.2	+	1	665	c.267C>T	c.(265-267)ctC>ctT	p.L89L		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	89					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					ACCTGCTCCTCCTAATAACGT	0.483											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	349					0	0	0	0	T	16142343	C	T	16142343	2	4	4	1	0	0	0	0	0	0	0	1	6858	842	30	2		2	GRPR	23	16142343	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	2103694	16142343	139128217	344	1100											
MAGEB1	4112	broad.mit.edu	37	chrX	30269381	30269381	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaaaaatatctgaagtaCgagcaggtgcccaacagtga	16	6	11	8	1	1	2	0	2	1	0	1	4	1	3	1	2	4	2	1	2	6	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:30269381C>A	ENST00000378981.3	+	4	1092	c.771C>A	c.(769-771)taC>taA	p.Y257*	MAGEB1_ENST00000397548.2_Nonsense_Mutation_p.Y257*|MAGEB1_ENST00000397550.1_Nonsense_Mutation_p.Y257*	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	257	MAGE.							p.Y257Y(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ATCTGAAGTACGAGCAGGTGC	0.493													35	85					2.42023e-17	2.6562e-17	1	0	A	30269381	C	A	30269381	4	1	4	1	0	0	0	0	0	1	0	0	9241	547	19	3	773	3	MAGEB1	23	30269381	Nonsense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	14127038	30269381	125001179	345	1101											
FAM47A	158724	broad.mit.edu	37	chrX	34148687	34148687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgaatcttgggaggctccGagaattgatgggactctgga	9	10	14	8	2	2	2	0	1	2	1	4	7	3	5	1	4	0	1	1	4	2	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:34148687G>A	ENST00000346193.3	-	1	1760	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	570										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGGAGGCTCCGAGAATTGATG	0.522													10	125					0	0	0	0	A	34148687	G	A	34148687	3	1	4	1	0	0	0	0	1	0	0	0	5616	1059	37	1	670	1	FAM47A	23	34148687	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	3879306	34148687	121121873	346	1102											
SLC9A7	84679	broad.mit.edu	37	chrX	46466624	46466624	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcagagtcttcctctctCagtggctcttggttctgaaa	9	14	8	10	0	6	2	2	1	4	1	8	2	7	2	1	2	0	2	1	2	2	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:46466624C>A	ENST00000328306.4	-	17	1966	c.1941G>T	c.(1939-1941)ctG>ctT	p.L647L	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	647					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CTTCCTCTCTCAGTGGCTCTT	0.498													9	78					0.00829132	0.00846486	1	0	A	46466624	C	A	46466624	2	1	4	1	0	0	0	0	0	0	0	1	14807	813	29	2		2	SLC9A7	23	46466624	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	12317937	46466624	108803936	347	1103											
SSX1	6756	broad.mit.edu	37	chrX	48117190	48117190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttttttaggcctttgatGatattgccacatacttctct	8	20	5	8	0	1	2	0	2	1	0	2	2	1	2	2	1	2	0	2	1	3	9			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:48117190G>T	ENST00000376919.3	+	3	215	c.79G>T	c.(79-81)Gat>Tat	p.D27Y		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	27	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GGCCTTTGATGATATTGCCAC	0.388			T	SS18	synovial sarcoma								12	26					0.010729	0.0109029	1	0	T	48117190	G	T	48117190	3	4	4	1	0	0	0	0	1	0	0	0	15293	1290	45	2	85	2	SSX1	23	48117190	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	1650566	48117190	107153370	348	1104											
GPKOW	27238	broad.mit.edu	37	chrX	48972603	48972603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtgtttccgcttcctctCtgagttgtcctgctggatgt	4	16	11	10	1	1	1	0	1	1	0	5	2	4	2	3	2	1	4	3	2	1	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:48972603C>G	ENST00000156109.5	-	7	1066	c.988G>C	c.(988-990)Gag>Cag	p.E330Q		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	330						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CGCTTCCTCTCTGAGTTGTCC	0.572													11	126					0	0	0	0	G	48972603	C	G	48972603	3	3	4	1	0	0	0	0	1	0	0	0	6662	922	32	2	462	2	GPKOW	23	48972603	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	855413	48972603	106297957	349	1105											
CCNB3	85417	broad.mit.edu	37	chrX	50089689	50089689	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggatgactttgtgtacatCtgtgatgataattatcagcg	10	15	11	5	1	2	3	1	3	1	0	2	4	2	4	0	1	2	1	0	1	3	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:50089689C>T	ENST00000376042.1	+	10	3991	c.3693C>T	c.(3691-3693)atC>atT	p.I1231I	CCNB3_ENST00000376038.1_Silent_p.I127I|CCNB3_ENST00000348603.2_Silent_p.I127I|CCNB3_ENST00000276014.7_Silent_p.I1231I			Q8WWL7	CCNB3_HUMAN	cyclin B3	1231					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTGTGTACATCTGTGATGATA	0.463													21	189					0	0	0	0	T	50089689	C	T	50089689	2	4	4	1	0	0	0	0	0	0	0	1	2943	903	32	2		2	CCNB3	23	50089689	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1117086	50089689	105180871	350	1106											
BMP15	9210	broad.mit.edu	37	chrX	50659550	50659550	+	Silent	SNP	G	G	T																															cttatgattgaggcaaatggGagtattttgtacaaggagta																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:50659550G>T	ENST00000252677.3	+	2	1122	c.1122G>T	c.(1120-1122)ggG>ggT	p.G374G		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	374					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AGGCAAATGGGAGTATTTTGT	0.468													61	208					4.96213e-28	5.54294e-28	1	0	T	50659550	G	T	50659550	2	4	4	1	0	0	0	0	0	0	0	1	1463	1161	41	2		2	BMP15	23	50659550	Silent	SNP	G	TCGA-BA-4077-01B-01D-1434-08	569861	50659550	104611010	351	1107	19	2									
BMP15	9210	broad.mit.edu	37	chrX	50659551	50659551	+	Missense_Mutation	SNP	A	A	T																															ttatgattgaggcaaatgggAgtattttgtacaaggagtat																										TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:50659551A>T	ENST00000252677.3	+	2	1123	c.1123A>T	c.(1123-1125)Agt>Tgt	p.S375C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	375					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GGCAAATGGGAGTATTTTGTA	0.468													60	210					0	0	0	0	T	50659551	A	T	50659551	3	4	4	1	0	0	0	0	1	0	0	0	1463	304	11	5	1129	5	BMP15	23	50659551	Missense_Mutation	SNP	A	TCGA-BA-4077-01B-01D-1434-08	1	50659551	104611009	352	1108	19	2									
FAM120C	54954	broad.mit.edu	37	chrX	54112314	54112314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgactccttcaaggatgctCtgtctcatcttttccacttt	6	18	5	12	0	4	1	2	1	3	0	7	2	6	2	2	1	1	1	2	1	1	5			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54112314C>T	ENST00000375180.2	-	13	2729	c.2673G>A	c.(2671-2673)caG>caA	p.Q891Q	FAM120C_ENST00000328235.4_Intron	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	891										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAAGGATGCTCTGTCTCATCT	0.478													54	74					0	0	0	0	T	54112314	C	T	54112314	2	4	4	1	0	0	0	0	0	0	0	1	5459	912	32	2		2	FAM120C	23	54112314	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	3452763	54112314	101158246	353	1109											
WNK3	65267	broad.mit.edu	37	chrX	54319739	54319739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatgtataactgatgcagctCctgcctcagacaaattgtca	13	11	7	10	0	2	2	2	1	0	1	3	2	3	2	2	0	4	3	2	0	4	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54319739C>G	ENST00000354646.2	-	9	2153	c.1715G>C	c.(1714-1716)gGa>gCa	p.G572A	WNK3_ENST00000375159.2_Missense_Mutation_p.G572A|WNK3_ENST00000375169.3_Missense_Mutation_p.G572A	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	572					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGATGCAGCTCCTGCCTCAGA	0.393													15	118					0	0	0	0	G	54319739	C	G	54319739	3	3	4	1	0	0	0	0	1	0	0	0	17475	855	30	2	3751	2	WNK3	23	54319739	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	207425	54319739	100950821	354	1110											
FGD1	2245	broad.mit.edu	37	chrX	54476730	54476730	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagtctttcttctcctcctCagtccttggggtggggaata	5	14	10	12	0	4	0	1	0	3	0	7	1	6	1	4	4	0	0	4	4	2	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54476730C>G	ENST00000375135.3	-	13	2753	c.2020G>C	c.(2020-2022)Gag>Cag	p.E674Q		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	674	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TTCTCCTCCTCAGTCCTTGGG	0.478													15	235					0	0	0	0	G	54476730	C	G	54476730	3	3	4	1	0	0	0	0	1	0	0	0	5877	835	29	2	889	2	FGD1	23	54476730	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	156991	54476730	100793830	355	1111											
PFKFB1	5207	broad.mit.edu	37	chrX	54971904	54971904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagcggtagcgatatttatCttggtctcgcagtgcaaatt	10	14	10	7	3	2	0	0	0	2	0	3	1	2	0	0	2	3	3	0	2	5	7			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54971904C>G	ENST00000375006.3	-	10	1136	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H	PFKFB1_ENST00000374992.2_Missense_Mutation_p.D156H|PFKFB1_ENST00000545676.1_Missense_Mutation_p.D291H	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	356	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CGATATTTATCTTGGTCTCGC	0.478													5	70					0	0	0	0	G	54971904	C	G	54971904	3	3	4	1	0	0	0	0	1	0	0	0	11832	913	32	2	369	2	PFKFB1	23	54971904	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	495174	54971904	100298656	356	1112											
BTK	695	broad.mit.edu	37	chrX	100615599	100615599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatggtaagttgctttcctCcaagataaaatattcatcac	13	13	5	10	0	2	1	2	0	0	1	4	1	4	1	3	1	1	3	3	1	5	6			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:100615599C>T	ENST00000308731.7	-	8	896	c.733G>A	c.(733-735)Gag>Aag	p.E245K	BTK_ENST00000372880.1_Missense_Mutation_p.E245K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	245	SH3.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGCTTTCCTCCAAGATAAAA	0.478									Agammaglobulinemia, X-linked				6	180					0	0	0	0	T	100615599	C	T	100615599	3	4	4	1	0	0	0	0	1	0	0	0	1566	864	30	2	1294	2	BTK	23	100615599	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	45643695	100615599	54654961	357	1113											
GPRASP1	9737	broad.mit.edu	37	chrX	101911992	101911992	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgggaggaggtcactgttCagttcaagcctggtccatgg	7	11	15	8	0	3	0	3	0	0	0	4	2	4	2	2	5	1	3	2	5	1	3			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:101911992C>T	ENST00000537097.1	+	6	3964	c.3151C>T	c.(3151-3153)Cag>Tag	p.Q1051*	GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.Q1051*|GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.Q1051*|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.Q1051*	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1051	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGTCACTGTTCAGTTCAAGCC	0.532													147	243					0	0	0	0	T	101911992	C	T	101911992	4	4	4	1	0	0	0	0	0	1	0	0	6772	827	29	2	3153	2	GPRASP1	23	101911992	Nonsense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	1296393	101911992	53358568	358	1114											
NRK	203447	broad.mit.edu	37	chrX	105149322	105149322	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggaatctgctcccacagtCaaatccagcggatggtaaag	12	7	11	11	2	2	0	1	0	1	0	4	2	4	2	2	3	2	2	2	3	4	1			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:105149322C>G	ENST00000428173.2	+	10	1134	c.831C>G	c.(829-831)gtC>gtG	p.V277V	NRK_ENST00000243300.9_Silent_p.V277V			Q7Z2Y5	NRK_HUMAN	Nik related kinase	277	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTCCCACAGTCAAATCCAGCG	0.373										HNSCC(51;0.14)			6	35					0	0	0	0	G	105149322	C	G	105149322	2	3	4	1	0	0	0	0	0	0	0	1	10726	813	29	2		2	NRK	23	105149322	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	3237330	105149322	50121238	359	1115											
ACSL4	2182	broad.mit.edu	37	chrX	108904860	108904860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcttgtaacttcactaGatctttcttacgatctgtta	8	18	5	10	1	4	1	1	0	3	1	5	2	5	1	1	0	3	3	1	0	4	7			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:108904860G>T	ENST00000340800.2	-	15	2224	c.1720C>A	c.(1720-1722)Cta>Ata	p.L574I	ACSL4_ENST00000348502.6_Missense_Mutation_p.L533I|ACSL4_ENST00000469796.2_Missense_Mutation_p.L574I	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	574					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AACTTCACTAGATCTTTCTTA	0.358													21	143					1.37657e-19	1.52604e-19	1	0	T	108904860	G	T	108904860	3	4	4	1	0	0	0	0	1	0	0	0	179	933	33	2	427	2	ACSL4	23	108904860	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	3755538	108904860	46365700	360	1116											
ARHGAP4	393	broad.mit.edu	37	chrX	153178174	153178174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggataaacttctccatgtCtcccccaaagagtctctggt	9	12	7	13	0	3	1	0	0	3	1	6	2	3	2	3	2	1	0	3	2	3	2			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:153178174C>T	ENST00000370028.3	-	13	1699	c.1642G>A	c.(1642-1644)Gac>Aac	p.D548N	ARHGAP4_ENST00000393721.1_Missense_Mutation_p.D330N|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.D487N|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.D508N|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.D485N	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	508	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCATGTCTCCCCCAAAG	0.557													44	360					0	0	0	0	T	153178174	C	T	153178174	3	4	4	1	0	0	0	0	1	0	0	0	887	913	32	2	1362	2	ARHGAP4	23	153178174	Missense_Mutation	SNP	C	TCGA-BA-4077-01B-01D-1434-08	44273314	153178174	2092386	361	1117											
OPN1MW2	728458	broad.mit.edu	37	chrX	153496185	153496185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccaccctttgatggctGccctgccggccttctttgcc	2	13	8	18	1	1	1	0	1	1	0	2	1	2	1	7	2	3	1	7	2	0	4			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:153496185G>T	ENST00000369929.4	+	5	973	c.913G>T	c.(913-915)Gcc>Tcc	p.A305S		NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2											haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTGATGGCTGCCCTGCCGGC	0.552													87	374					1.84561e-53	2.0882e-53	1	0	T	153496185	G	T	153496185	3	4	4	1	0	0	0	0	1	0	0	0	10950	1319	46	4	2050	4	OPN1MW2	23	153496185	Missense_Mutation	SNP	G	TCGA-BA-4077-01B-01D-1434-08	318011	153496185	1774375	362	1118											
PLXNA3	55558	broad.mit.edu	37	chrX	153689684	153689684	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatacgtggaattccccatCggctgctcctggcgcggcgt	5	10	12	14	5	1	0	1	0	0	0	4	1	3	1	3	4	2	2	3	4	2	2	rs149751983		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:153689684C>T	ENST00000369682.3	+	3	1015	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	280	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AATTCCCCATCGGCTGCTCCT	0.637													27	198					0	0	0	0	T	153689684	C	T	153689684	2	4	4	1	0	0	0	0	0	0	0	1	12193	874	31	1		1	PLXNA3	23	153689684	Silent	SNP	C	TCGA-BA-4077-01B-01D-1434-08	193499	153689684	1580876	363	1119											
KIF1B	23095	broad.mit.edu	37	chr1	10386207	10386207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtgtgaacgagcgccttgCcgaccgcacaccctccccca	7	6	9	19	4	0	1	0	1	0	0	1	3	1	1	6	0	3	1	6	0	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:10386207C>T	ENST00000377086.1	+	27	2916	c.2714C>T	c.(2713-2715)gCc>gTc	p.A905V	KIF1B_ENST00000263934.6_Missense_Mutation_p.A859V|KIF1B_ENST00000377081.1_Missense_Mutation_p.A905V			O60333	KIF1B_HUMAN	kinesin family member 1B	905					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAGCGCCTTGCCGACCGCACA	0.542													5	244					0	0	0	0	T	10386207	C	T	10386207	3	4	5	1	0	0	0	0	1	0	0	0	8335	739	26	4	4159	4	KIF1B	1	10386207	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08		10386207	238864414	1	1120											
CELA3B	23436	broad.mit.edu	37	chr1	22304901	22304901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctcgcccttccagccGcgttgtcaatggtgaggatg	5	12	11	13	3	2	1	1	1	1	0	5	2	4	2	4	2	1	1	4	2	1	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:22304901G>T	ENST00000337107.6	+	2	102	c.83G>T	c.(82-84)cGc>cTc	p.R28L		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	28					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CCTTCCAGCCGCGTTGTCAAT	0.612													42	23					6.27289e-28	8.15853e-28	1	0	T	22304901	G	T	22304901	3	4	5	1	0	0	0	0	1	0	0	0	3243	1087	38	3	89	3	CELA3B	1	22304901	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	11918694	22304901	226945720	2	1121											
KIAA1522	57648	broad.mit.edu	37	chr1	33237516	33237516	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccccccagaaaccactGcgaagggccctgtcagggcg	8	4	13	16	3	1	1	1	0	0	1	2	2	1	1	5	3	2	0	5	3	2	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:33237516G>A	ENST00000401073.2	+	6	2806	c.2736G>A	c.(2734-2736)ctG>ctA	p.L912L	KIAA1522_ENST00000373480.1_Silent_p.L853L|KIAA1522_ENST00000373481.3_Silent_p.L864L|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	853	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGAAACCACTGCGAAGGGCCC	0.716													12	17					0	0	0	0	A	33237516	G	A	33237516	2	1	5	1	0	0	0	0	0	0	0	1	8289	1306	46	4		4	KIAA1522	1	33237516	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	10932615	33237516	216013105	3	1122											
ZMYM1	79830	broad.mit.edu	37	chr1	35578906	35578906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatattttagctgtggaaGagagtcatttgcaacccacg	14	11	9	7	1	1	1	1	0	0	1	1	3	1	2	1	1	3	2	1	1	6	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:35578906G>A	ENST00000373330.1	+	11	1649	c.1475G>A	c.(1474-1476)aGa>aAa	p.R492K	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.R492K			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	492						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCTGTGGAAGAGAGTCATTT	0.348													57	107					0	0	0	0	A	35578906	G	A	35578906	3	1	5	1	0	0	0	0	1	0	0	0	17794	942	33	2	1509	2	ZMYM1	1	35578906	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2341390	35578906	213671715	4	1123											
GNL2	29889	broad.mit.edu	37	chr1	38039946	38039946	+	Frame_Shift_Del	DEL	G	G	-																															ggcccaccctgctcttacctGgggggccacaagtggctctg																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:38039946delG	ENST00000373062.3	-	12	1512	c.1414delC	c.(1414-1416)agfs	p.Q472fs		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	472					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GCTCTTACCTGGGGGGCCACA	0.542													16	23	---	---	---	---					-	38039946	G	-	38039946	7	5	5	1	0	1	0	1	0	0	0	0	6587	1357	47	0	801	0	GNL2	1	38039946	Frame_Shift_Del	DEL	G	TCGA-BA-4078-01A-01D-1434-08	2461040	38039946	211210675	5	1124											
ERMAP	114625	broad.mit.edu	37	chr1	43308691	43308691	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgatggaggaaaaaacAcagcacctctagtcatttgt	14	11	8	8	0	3	1	2	1	1	0	3	3	3	3	1	2	2	1	1	2	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:43308691A>G	ENST00000328249.3	+	9	1984	c.946A>G	c.(946-948)Aca>Gca	p.T316A	ERMAP_ENST00000372514.3_Missense_Mutation_p.T406A|RP11-342M1.3_ENST00000444563.1_RNA|ERMAP_ENST00000372517.2_Missense_Mutation_p.T406A|RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.2_ENST00000416809.2_RNA|RP11-342M1.4_ENST00000414798.1_RNA|ERMAP_ENST00000487556.1_3'UTR			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	406	B30.2/SPRY.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGAAAAAACACAGCACCTCT	0.463													62	115					0	0	0	0	G	43308691	A	G	43308691	3	3	5	1	0	0	0	0	1	0	0	0	5272	159	6	5	1254	5	ERMAP	1	43308691	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	5268745	43308691	205941930	6	1125											
HECTD3	79654	broad.mit.edu	37	chr1	45472642	45472642	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtcaatgatgccttcTgcaataaatttacactccca	11	13	5	12	0	2	1	1	1	1	0	3	1	3	1	3	1	3	1	3	1	5	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:45472642T>A	ENST00000372172.4	-	12	1673	c.1602A>T	c.(1600-1602)gcA>gcT	p.A534A	HECTD3_ENST00000372168.3_Silent_p.A144A	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	534	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TGATGCCTTCTGCAATAAATT	0.507													34	53					0	0	0	0	A	45472642	T	A	45472642	2	1	5	1	0	0	0	0	0	0	0	1	7091	1567	55	5		5	HECTD3	1	45472642	Silent	SNP	T	TCGA-BA-4078-01A-01D-1434-08	2163951	45472642	203777979	7	1126											
CYP4A11	1579	broad.mit.edu	37	chr1	47407066	47407066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggattccagagacatCacccaggagtctgctggggc	9	8	14	10	0	2	1	1	0	1	1	3	5	3	4	2	5	1	1	2	5	0	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:47407066C>A	ENST00000310638.4	-	1	71	c.40G>T	c.(40-42)Gat>Tat	p.D14Y	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.D14Y|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.D14Y	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	14					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CCAGAGACATCACCCAGGAGT	0.597													68	123					2.42712e-22	2.989e-22	1	0	A	47407066	C	A	47407066	3	1	5	1	0	0	0	0	1	0	0	0	4215	826	29	2	1567	2	CYP4A11	1	47407066	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	1934424	47407066	201843555	8	1127											
CYP4A22	284541	broad.mit.edu	37	chr1	47609432	47609432	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttcatactctccctcAggaattctcagtcctacatc	8	15	3	15	0	6	0	3	0	4	0	10	1	7	1	2	1	2	0	2	1	3	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:47609432A>C	ENST00000371891.3	+	6	666		c.e6-1		CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000294337.3_Splice_Site|CYP4A22_ENST00000485117.1_Splice_Site|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22							endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTCTCCCTCAGGAATTCTCA	0.512													52	73					0	0	0	0	C	47609432	A	C	47609432	5	2	5	1	0	0	0	0	0	0	1	0	4216	202	7	5	656	5	CYP4A22	1	47609432	Splice_Site	SNP	A	TCGA-BA-4078-01A-01D-1434-08	202366	47609432	201641189	9	1128											
ELAVL4	1996	broad.mit.edu	37	chr1	50659494	50659494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctaacctctatgttagcGgccttcccaaaaccatgacc	11	10	6	14	1	1	1	0	1	1	0	2	1	2	1	5	1	4	2	5	1	5	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:50659494G>A	ENST00000371824.1	+	4	669	c.412G>A	c.(412-414)Ggc>Agc	p.G138S	ELAVL4_ENST00000371821.1_Missense_Mutation_p.G143S|ELAVL4_ENST00000371823.4_Missense_Mutation_p.G138S|ELAVL4_ENST00000357083.4_Missense_Mutation_p.G155S|ELAVL4_ENST00000448907.2_Missense_Mutation_p.G141S|ELAVL4_ENST00000371819.1_Missense_Mutation_p.G143S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.G138S			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	138	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CTATGTTAGCGGCCTTCCCAA	0.488													105	140					0	0	0	0	A	50659494	G	A	50659494	3	1	5	1	0	0	0	0	1	0	0	0	5090	1116	39	1	525	1	ELAVL4	1	50659494	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3050062	50659494	198591127	10	1129											
C8B	732	broad.mit.edu	37	chr1	57425761	57425761	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcacaatcaatgggcaTcagggtaacatccacactcc	13	7	7	14	0	3	0	3	0	0	0	5	0	5	0	2	2	2	3	2	2	3	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:57425761T>A	ENST00000543257.1	-	3	591	c.25A>T	c.(25-27)Atg>Ttg	p.M9L	C8B_ENST00000535057.1_5'UTR|C8B_ENST00000371237.4_Missense_Mutation_p.M61L|C8B_ENST00000494324.1_5'UTR	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	61					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCAATGGGCATCAGGGTAACA	0.488													58	83					0	0	0	0	A	57425761	T	A	57425761	3	1	5	1	0	0	0	0	1	0	0	0	2440	1435	50	5	1638	5	C8B	1	57425761	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	6766267	57425761	191824860	11	1130											
PGM1	5236	broad.mit.edu	37	chr1	64117492	64117492	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgataactttgaatacagcgAcccagtggatggaagcattt	13	10	10	8	2	0	1	0	1	0	0	0	5	0	3	1	2	4	1	1	2	4	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:64117492A>T	ENST00000371083.4	+	9	1855	c.1487A>T	c.(1486-1488)gAc>gTc	p.D496V	PGM1_ENST00000371084.3_Missense_Mutation_p.D478V|PGM1_ENST00000483707.1_3'UTR|PGM1_ENST00000540265.1_Missense_Mutation_p.D281V	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	478					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GAATACAGCGACCCAGTGGAT	0.463													21	53					0	0	0	0	T	64117492	A	T	64117492	3	4	5	1	0	0	0	0	1	0	0	0	11869	275	10	5	1771	5	PGM1	1	64117492	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	6691731	64117492	185133129	12	1131											
SGIP1	84251	broad.mit.edu	37	chr1	67155877	67155877	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctccttacagtccaGaccttttagccctcccattc	6	16	3	16	0	2	1	0	0	2	1	6	1	4	1	5	0	2	0	5	0	2	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:67155877G>T	ENST00000371037.4	+	17	1525	c.1448G>T	c.(1447-1449)aGa>aTa	p.R483I	SGIP1_ENST00000371035.3_Missense_Mutation_p.R273I|SGIP1_ENST00000371036.3_Missense_Mutation_p.R283I|SGIP1_ENST00000371039.1_Missense_Mutation_p.R284I|SGIP1_ENST00000237247.6_Missense_Mutation_p.R514I	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	483	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTACAGTCCAGACCTTTTAGC	0.443													87	167					1.29045e-55	1.96136e-55	1	0	T	67155877	G	T	67155877	3	4	5	1	0	0	0	0	1	0	0	0	14293	942	33	2	1514	2	SGIP1	1	67155877	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3038385	67155877	182094744	13	1132											
C1orf173	127254	broad.mit.edu	37	chr1	75037355	75037355	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtttctgccgtttcacCacctccgtgtagaacttcca	6	13	8	14	2	2	1	1	0	1	1	4	1	4	1	5	1	2	4	5	1	2	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:75037355C>A	ENST00000326665.5	-	14	4257	c.4039G>T	c.(4039-4041)Ggt>Tgt	p.G1347C	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1347	Glu-rich.									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						GCCGTTTCACCACCTCCGTGT	0.537													44	66					2.14255e-21	2.5846e-21	1	0	A	75037355	C	A	75037355	3	1	5	1	0	0	0	0	1	0	0	0	2033	594	21	4	557	4	C1orf173	1	75037355	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	7881478	75037355	174213266	14	1133											
LPHN2	23266	broad.mit.edu	37	chr1	82409022	82409022	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaccatgatacctcaccatAcagatggggaggaaagactg	14	7	10	10	0	1	3	1	1	0	2	1	5	1	5	3	3	3	0	3	3	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:82409022A>G	ENST00000370728.1	+	8	1412	c.767A>G	c.(766-768)tAc>tGc	p.Y256C	LPHN2_ENST00000370717.2_Missense_Mutation_p.Y256C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y256C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y256C|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y256C|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370721.1_Missense_Mutation_p.Y260C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y256C|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370713.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370715.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	256	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACCTCACCATACAGATGGGGA	0.393													60	88					0	0	0	0	G	82409022	A	G	82409022	3	3	5	1	0	0	0	0	1	0	0	0	8980	391	14	5	781	5	LPHN2	1	82409022	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	7371667	82409022	166841599	15	1134											
LPHN2	23266	broad.mit.edu	37	chr1	82445578	82445578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattatcttcttggtgatcaCattgtgcaaaatggtgaagc	11	15	9	6	0	3	2	1	2	2	0	3	2	3	2	0	2	2	1	0	2	5	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:82445578C>A	ENST00000370728.1	+	20	3680	c.3035C>A	c.(3034-3036)aCa>aAa	p.T1012K	LPHN2_ENST00000370717.2_Missense_Mutation_p.T1012K|LPHN2_ENST00000335786.5_Missense_Mutation_p.T1012K|LPHN2_ENST00000359929.3_Missense_Mutation_p.T999K|LPHN2_ENST00000319517.6_Missense_Mutation_p.T999K|LPHN2_ENST00000394879.1_Missense_Mutation_p.T999K|LPHN2_ENST00000370730.1_Missense_Mutation_p.T1012K|LPHN2_ENST00000370727.1_Missense_Mutation_p.T1012K|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1012K|LPHN2_ENST00000370721.1_Missense_Mutation_p.T937K|LPHN2_ENST00000271029.4_Missense_Mutation_p.T1012K|LPHN2_ENST00000370723.1_Missense_Mutation_p.T999K|LPHN2_ENST00000370713.1_Missense_Mutation_p.T999K|LPHN2_ENST00000370715.1_Missense_Mutation_p.T999K|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	1012					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTGGTGATCACATTGTGCAAA	0.299													31	62					2.05212e-20	2.44821e-20	1	0	A	82445578	C	A	82445578	3	1	5	1	0	0	0	0	1	0	0	0	8980	478	17	4	3054	4	LPHN2	1	82445578	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	36556	82445578	166805043	16	1135											
LPPR5	163404	broad.mit.edu	37	chr1	99387542	99387542	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtaagaaatgccaaacAcattaagcccaagcatagaa	19	6	6	10	0	0	2	0	0	0	2	1	2	1	2	3	0	4	2	3	0	7	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:99387542A>C	ENST00000370188.3	-	4	1054	c.694T>G	c.(694-696)Tgt>Ggt	p.C232G	LPPR5_ENST00000263177.4_Missense_Mutation_p.C232G	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		232						integral to membrane	hydrolase activity										AATGCCAAACACATTAAGCCC	0.378													67	77					0	0	0	0	C	99387542	A	C	99387542	3	2	5	1	0	0	0	0	1	0	0	0	8992	159	6	5	283	5	LPPR5	1	99387542	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	16941964	99387542	149863079	17	1136											
COL11A1	1301	broad.mit.edu	37	chr1	103496734	103496734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagagtcacagtctggacTataatgctcacagtagtcat	13	11	9	8	0	4	2	3	1	1	1	4	3	4	3	0	1	1	2	0	1	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:103496734T>C	ENST00000358392.2	-	5	1035	c.718A>G	c.(718-720)Agt>Ggt	p.S240G	COL11A1_ENST00000512756.1_Missense_Mutation_p.S240G|COL11A1_ENST00000353414.4_Missense_Mutation_p.S240G|COL11A1_ENST00000370096.3_Missense_Mutation_p.S240G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	240	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGTCTGGACTATAATGCTCA	0.448													22	38					0	0	0	0	C	103496734	T	C	103496734	3	2	5	1	0	0	0	0	1	0	0	0	3697	1522	53	5	5111	5	COL11A1	1	103496734	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	4109192	103496734	145753887	18	1137											
COL11A1	1301	broad.mit.edu	37	chr1	103496752	103496752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actataatgctcacagtagtCatatgctgccttgggatcac	11	12	8	10	0	3	0	3	0	0	0	3	1	3	1	1	1	3	3	1	1	4	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:103496752C>T	ENST00000358392.2	-	5	1017	c.700G>A	c.(700-702)Gac>Aac	p.D234N	COL11A1_ENST00000512756.1_Missense_Mutation_p.D234N|COL11A1_ENST00000353414.4_Missense_Mutation_p.D234N|COL11A1_ENST00000370096.3_Missense_Mutation_p.D234N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	234	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCACAGTAGTCATATGCTGCC	0.443													21	41					0	0	0	0	T	103496752	C	T	103496752	3	4	5	1	0	0	0	0	1	0	0	0	3697	826	29	2	5129	2	COL11A1	1	103496752	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	18	103496752	145753869	19	1138											
COL11A1	1301	broad.mit.edu	37	chr1	103548502	103548502	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaattgtgaaaatctaGtgcttttagtacatcaactg	13	14	9	5	0	2	2	1	1	1	1	2	3	2	2	0	1	3	2	0	1	7	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:103548502G>A	ENST00000358392.2	-	2	450	c.133C>T	c.(133-135)Cta>Tta	p.L45L	COL11A1_ENST00000512756.1_Silent_p.L45L|COL11A1_ENST00000353414.4_Silent_p.L45L|COL11A1_ENST00000370096.3_Silent_p.L45L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	45	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGAAAATCTAGTGCTTTTAGT	0.333													51	87					0	0	0	0	A	103548502	G	A	103548502	2	1	5	1	0	0	0	0	0	0	0	1	3697	1020	36	4		4	COL11A1	1	103548502	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	51750	103548502	145702119	20	1139											
ATXN7L2	127002	broad.mit.edu	37	chr1	110032945	110032945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgctatgtgtttagccGccggctggaccggttctgct	5	12	14	10	3	1	0	0	0	1	0	1	2	1	2	3	4	3	5	3	4	2	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:110032945G>A	ENST00000369870.3	+	9	1304	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	430										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GTGTTTAGCCGCCGGCTGGAC	0.577											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	72					0	0	0	0	A	110032945	G	A	110032945	3	1	5	1	0	0	0	0	1	0	0	0	1221	1087	38	1	1323	1	ATXN7L2	1	110032945	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	6484443	110032945	139217676	21	1140											
LRIG2	9860	broad.mit.edu	37	chr1	113652911	113652911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatcctgaaaccataattGctctaagaggcatgaatgtg	14	10	8	9	0	1	3	0	2	1	1	2	3	2	3	2	1	2	2	2	1	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:113652911G>T	ENST00000361127.4	+	13	1723	c.1525G>T	c.(1525-1527)Gct>Tct	p.A509S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	509	Ig-like C2-type 1.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACCATAATTGCTCTAAGAGG	0.428													63	110					3.13296e-38	4.3821e-38	1	0	T	113652911	G	T	113652911	3	4	5	1	0	0	0	0	1	0	0	0	9009	1319	46	4	1575	4	LRIG2	1	113652911	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3619966	113652911	135597710	22	1141											
AMPD1	270	broad.mit.edu	37	chr1	115231345	115231345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactttttcagcaaagttgcGcattgcatcatcaatttcta	11	15	5	10	1	4	0	3	0	1	0	4	0	4	0	0	0	3	4	0	0	3	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:115231345G>T	ENST00000369538.3	-	2	186	c.139C>A	c.(139-141)Cgc>Agc	p.R47S	AMPD1_ENST00000353928.6_Missense_Mutation_p.R18S|AMPD1_ENST00000520113.2_Missense_Mutation_p.R51S	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	18					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	GCAAAGTTGCGCATTGCATCA	0.423													68	138					4.66136e-34	6.30255e-34	1	0	T	115231345	G	T	115231345	3	4	5	1	0	0	0	0	1	0	0	0	585	1087	38	3	2247	3	AMPD1	1	115231345	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1578434	115231345	134019276	23	1142											
FLG	2312	broad.mit.edu	37	chr1	152280766	152280766	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcctagagccatctcctGattgttccttgtcatatgtt	7	16	8	10	0	2	2	1	1	1	1	4	2	3	2	4	0	2	2	4	0	2	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:152280766G>T	ENST00000368799.1	-	3	6631	c.6596C>A	c.(6595-6597)tCa>tAa	p.S2199*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2199	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCATCTCCTGATTGTTCCTT	0.542									Ichthyosis				298	419					1.63887e-181	2.5568e-181	1	0	T	152280766	G	T	152280766	4	4	5	1	0	0	0	0	0	1	0	0	5967	1294	45	2	5593	2	FLG	1	152280766	Nonsense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	37049421	152280766	96969855	24	1143											
OR10K2	391107	broad.mit.edu	37	chr1	158389859	158389859	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcatcctggcttgaggaGtagttggactgaggccttaa	10	10	14	7	0	0	3	0	2	0	1	1	5	1	5	2	4	1	4	2	4	2	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:158389859G>A	ENST00000314902.2	-	1	797	c.798C>T	c.(796-798)taC>taT	p.Y266Y		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGCTTGAGGAGTAGTTGGACT	0.398													133	20					0	0	0	0	A	158389859	G	A	158389859	2	1	5	1	0	0	0	0	0	0	0	1	10985	1024	36	4		4	OR10K2	1	158389859	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	6109093	158389859	90860762	25	1144											
ARHGAP30	257106	broad.mit.edu	37	chr1	161018684	161018684	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggcctctgtctcttccctActcccttctctcaatctgac	4	16	4	17	0	5	1	1	1	4	0	9	1	7	1	3	1	1	0	3	1	2	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:161018684A>G	ENST00000368013.3	-	12	2447	c.2127T>C	c.(2125-2127)agT>agC	p.S709S	ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Silent_p.S532S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	709	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTCTTCCCTACTCCCTTCTC	0.527													263	354					0	0	0	0	G	161018684	A	G	161018684	2	3	5	1	0	0	0	0	0	0	0	1	881	388	14	5		5	ARHGAP30	1	161018684	Silent	SNP	A	TCGA-BA-4078-01A-01D-1434-08	2628825	161018684	88231937	26	1145											
GPA33	10223	broad.mit.edu	37	chr1	167024302	167024302	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgataatgagggctgcAaccacgcccaccgcgatgcc	11	5	10	15	3	0	2	0	2	0	0	0	3	0	2	5	1	3	2	5	1	3	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:167024302A>T	ENST00000367868.3	-	6	1081	c.738T>A	c.(736-738)gtT>gtA	p.V246V	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	246						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGAGGGCTGCAACCACGCCCA	0.577													91	16					0	0	0	0	T	167024302	A	T	167024302	2	4	5	1	0	0	0	0	0	0	0	1	6635	117	5	5		5	GPA33	1	167024302	Silent	SNP	A	TCGA-BA-4078-01A-01D-1434-08	6005618	167024302	82226319	27	1146											
CD247	919	broad.mit.edu	37	chr1	167408592	167408592	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacttacgttatagagctGgttctggccctgctggtacg	6	13	12	10	2	1	2	0	1	1	1	1	2	1	2	1	3	4	5	1	3	4	5	rs74315290		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:167408592G>A	ENST00000392122.3	-	3	352	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000362089.5_Nonsense_Mutation_p.Q70*	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	70	ITAM 1.				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			TTATAGAGCTGGTTCTGGCCC	0.637													60	120					0	0	0	0	A	167408592	G	A	167408592	4	1	5	1	0	0	0	0	0	1	0	0	3017	1357	47	4	310	4	CD247	1	167408592	Nonsense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	384290	167408592	81842029	28	1147											
SELP	6403	broad.mit.edu	37	chr1	169580850	169580850	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggagccataggcaaaagCagtgagcggatgaacacagt	14	5	14	8	1	0	2	0	2	0	0	0	4	0	4	1	3	4	3	1	3	4	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:169580850C>G	ENST00000263686.6	-	7	1064	c.1027G>C	c.(1027-1029)Gct>Cct	p.A343P	SELP_ENST00000367786.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367792.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.A281P|SELP_ENST00000367788.2_Missense_Mutation_p.A281P|SELP_ENST00000458599.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	343	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TAGGCAAAAGCAGTGAGCGGA	0.532													130	21					0	0	0	0	G	169580850	C	G	169580850	3	3	5	1	0	0	0	0	1	0	0	0	14106	710	25	4	1505	4	SELP	1	169580850	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2172258	169580850	79669771	29	1148											
KCNT2	343450	broad.mit.edu	37	chr1	196285139	196285139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaaagtcactccacacCtgagtaagtcatctaggctt	13	9	7	12	0	3	1	2	1	1	0	4	1	4	1	2	1	1	3	2	1	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:196285139C>G	ENST00000367433.5	-	20	2395	c.2294G>C	c.(2293-2295)aGg>aCg	p.R765T	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.R715T|KCNT2_ENST00000294725.8_Missense_Mutation_p.R789T|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	789						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CACTCCACACCTGAGTAAGTC	0.393													29	7					0	0	0	0	G	196285139	C	G	196285139	3	3	5	1	0	0	0	0	1	0	0	0	8145	681	24	4	1073	4	KCNT2	1	196285139	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	26704289	196285139	52965482	30	1149											
F13B	2165	broad.mit.edu	37	chr1	197031010	197031010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggttttgtaccctgaagCgcaaccataacgcatgttct	10	12	9	10	2	1	1	0	1	1	0	1	1	1	1	2	1	4	5	2	1	4	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:197031010C>A	ENST00000367412.1	-	3	398	c.355G>T	c.(355-357)Gct>Tct	p.A119S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	119	Sushi 2.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TACCCTGAAGCGCAACCATAA	0.403													46	18					4.44401e-20	5.29204e-20	1	0	A	197031010	C	A	197031010	3	1	5	1	0	0	0	0	1	0	0	0	5379	768	27	3	1670	3	F13B	1	197031010	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	745871	197031010	52219611	31	1150											
CR1L	1379	broad.mit.edu	37	chr1	207871016	207871016	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggagccctgcagcccccaGatgtgaaggtgactagactc	9	7	12	13	0	0	4	0	2	0	2	1	5	0	5	3	2	3	1	3	2	2	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:207871016G>C	ENST00000508064.2	+	6	1091	c.1031G>C	c.(1030-1032)aGa>aCa	p.R344T	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	344	Sushi 5.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCAGCCCCCAGATGTGAAGGT	0.493													286	64					0	0	0	0	C	207871016	G	C	207871016	3	2	5	1	0	0	0	0	1	0	0	0	3871	942	33	2	1053	2	CR1L	1	207871016	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	10840006	207871016	41379605	32	1151											
CENPF	1063	broad.mit.edu	37	chr1	214819347	214819347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagagaaactgaaagaacGcgagcgggagaatgattcac	16	4	13	8	4	1	5	1	2	0	3	1	8	1	5	0	1	3	1	0	1	4	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:214819347G>A	ENST00000366955.3	+	13	6602	c.6434G>A	c.(6433-6435)cGc>cAc	p.R2145H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2241	Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTGAAAGAACGCGAGCGGGAG	0.468													94	13					0	0	0	0	A	214819347	G	A	214819347	3	1	5	1	0	0	0	0	1	0	0	0	3260	1087	38	1	6480	1	CENPF	1	214819347	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	6948331	214819347	34431274	33	1152											
ESRRG	2104	broad.mit.edu	37	chr1	216850746	216850746	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggttgacgctgtccgtcagGgaggctgggctggaaggttc	5	10	18	8	2	1	1	1	1	0	0	3	3	2	3	1	6	0	5	1	6	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:216850746G>A	ENST00000391890.3	-	4	592	c.75C>T	c.(73-75)tcC>tcT	p.S25S	ESRRG_ENST00000359162.2_Silent_p.S25S|ESRRG_ENST00000360012.3_Silent_p.S25S|ESRRG_ENST00000493748.1_Silent_p.S25S|ESRRG_ENST00000366937.1_Silent_p.S53S|ESRRG_ENST00000493603.1_Silent_p.S25S|ESRRG_ENST00000361395.2_Silent_p.S25S|ESRRG_ENST00000361525.3_Silent_p.S25S|ESRRG_ENST00000487276.1_Silent_p.S25S|ESRRG_ENST00000408911.3_Silent_p.S48S|ESRRG_ENST00000366938.2_Silent_p.S25S|ESRRG_ENST00000463665.1_Silent_p.S25S|ESRRG_ENST00000366940.2_Silent_p.S25S	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	48					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGTCCGTCAGGGAGGCTGGGC	0.537													81	21					0	0	0	0	A	216850746	G	A	216850746	2	1	5	1	0	0	0	0	0	0	0	1	5300	1219	43	4		4	ESRRG	1	216850746	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2031399	216850746	32399875	34	1153											
C1orf65	164127	broad.mit.edu	37	chr1	223568029	223568029	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaggctggtggaagcCtgtcgcaagaggcacctaca	11	5	15	10	1	0	2	0	0	0	2	1	4	0	4	2	5	2	3	2	5	3	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:223568029C>G	ENST00000366875.3	+	1	1315	c.1212C>G	c.(1210-1212)gcC>gcG	p.A404A		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	404										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TGGTGGAAGCCTGTCGCAAGA	0.622													43	6					0	0	0	0	G	223568029	C	G	223568029	2	3	5	1	0	0	0	0	0	0	0	1	2075	668	24	4		4	C1orf65	1	223568029	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	6717283	223568029	25682592	35	1154											
PARP1	142	broad.mit.edu	37	chr1	226549218	226549218	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagatacttcagatttacCtgagcaatatcatagacaat	16	11	6	8	0	2	4	2	1	0	3	2	4	2	4	1	0	4	2	1	0	6	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:226549218C>T	ENST00000366794.5	-	23	3131	c.2988G>A	c.(2986-2988)caG>caA	p.Q996Q	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	996	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCAGATTTACCTGAGCAATAT	0.473								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					50	6					0	0	0	0	T	226549218	C	T	226549218	2	4	5	1	0	0	0	0	0	0	0	1	11525	680	24	4		4	PARP1	1	226549218	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2981189	226549218	22701403	36	1155											
COG2	22796	broad.mit.edu	37	chr1	230827172	230827172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtattaaactctgtgaagaaGatggaagagagcctgaaaag	17	8	12	4	0	1	5	0	2	1	3	1	7	1	6	1	1	2	1	1	1	8	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:230827172G>A	ENST00000534989.1	+	17	2135	c.1800G>A	c.(1798-1800)aaG>aaA	p.K600K	COG2_ENST00000366669.4_Silent_p.K659K|COG2_ENST00000535166.1_Silent_p.K543K|COG2_ENST00000546013.1_Silent_p.K348K|COG2_ENST00000366668.3_Silent_p.K658K			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	659					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CTGTGAAGAAGATGGAAGAGA	0.463													62	7					0	0	0	0	A	230827172	G	A	230827172	2	1	5	1	0	0	0	0	0	0	0	1	3688	933	33	2		2	COG2	1	230827172	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	4277954	230827172	18423449	37	1156											
ARID4B	51742	broad.mit.edu	37	chr1	235345469	235345469	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacatcttttcgatctTtggccctgctgttttgaagt	7	16	8	10	1	2	2	0	1	2	1	3	3	2	2	2	1	1	2	2	1	1	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:235345469T>G	ENST00000264183.3	-	20	3262	c.2765A>C	c.(2764-2766)aAa>aCa	p.K922T	ARID4B_ENST00000349213.3_Missense_Mutation_p.K836T|ARID4B_ENST00000366603.2_Missense_Mutation_p.K922T	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	922					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTTCGATCTTTGGCCCTGCT	0.408													191	31					0	0	0	0	G	235345469	T	G	235345469	3	3	5	1	0	0	0	0	1	0	0	0	922	1841	64	5	1193	5	ARID4B	1	235345469	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	4518297	235345469	13905152	38	1157											
RYR2	6262	broad.mit.edu	37	chr1	237670115	237670115	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggctggcagtatggtccgGtatgtaattttgaaatttat	9	17	11	4	1	0	1	0	1	0	0	1	1	1	1	1	4	0	5	1	4	5	8			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:237670115G>T	ENST00000366574.2	+	23	3035		c.e23+1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTATGGTCCGGTATGTAATTT	0.368													15	22					2.61681e-11	2.90807e-11	1	0	T	237670115	G	T	237670115	5	4	5	1	0	0	0	0	0	0	1	0	13854	1275	44	4	2809	4	RYR2	1	237670115	Splice_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2324646	237670115	11580506	39	1158											
RYR2	6262	broad.mit.edu	37	chr1	237711878	237711878	+	Nonsense_Mutation	SNP	T	T	A																															atccggcagggctggacttaTggcatccaacaggtacatgg																								rs113422365		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:237711878T>A	ENST00000366574.2	+	26	3371	c.3054T>A	c.(3052-3054)taT>taA	p.Y1018*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.Y1016*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.Y1002*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1018	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGGACTTATGGCATCCAAC	0.428													42	11					0	0	0	0	A	237711878	T	A	237711878	4	1	5	1	0	0	0	0	0	1	0	0	13854	1471	51	5	3156	5	RYR2	1	237711878	Nonsense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	41763	237711878	11538743	40	1159	20	2									
RYR2	6262	broad.mit.edu	37	chr1	237711879	237711879	+	Missense_Mutation	SNP	G	G	T																															tccggcagggctggacttatGgcatccaacaggtacatggg																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:237711879G>T	ENST00000366574.2	+	26	3372	c.3055G>T	c.(3055-3057)Ggc>Tgc	p.G1019C	RYR2_ENST00000360064.6_Missense_Mutation_p.G1017C|RYR2_ENST00000542537.1_Missense_Mutation_p.G1003C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1019	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGGACTTATGGCATCCAACA	0.428													43	11					6.5261e-18	7.6452e-18	1	0	T	237711879	G	T	237711879	3	4	5	1	0	0	0	0	1	0	0	0	13854	1348	47	4	3157	4	RYR2	1	237711879	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1	237711879	11538742	41	1160	20	2									
RYR2	6262	broad.mit.edu	37	chr1	237778123	237778123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctgctccaaatgaaactgCcagagccagttaaattgcag	13	8	9	11	0	0	2	0	1	0	1	1	2	1	2	4	0	5	3	4	0	4	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:237778123C>T	ENST00000366574.2	+	37	6012	c.5695C>T	c.(5695-5697)Cca>Tca	p.P1899S	RYR2_ENST00000360064.6_Missense_Mutation_p.P1897S|RYR2_ENST00000542537.1_Missense_Mutation_p.P1883S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1899	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATGAAACTGCCAGAGCCAGT	0.468													63	9					0	0	0	0	T	237778123	C	T	237778123	3	4	5	1	0	0	0	0	1	0	0	0	13854	739	26	4	5841	4	RYR2	1	237778123	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	66244	237778123	11472498	42	1161											
OPN3	23596	broad.mit.edu	37	chr1	241761198	241761198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atataaggcatccaacagacCaggaaggtgaatatcattaa	18	8	8	7	0	1	2	1	1	0	1	2	3	2	3	2	3	1	1	2	3	7	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:241761198C>T	ENST00000366554.2	-	3	901	c.795G>A	c.(793-795)ctG>ctA	p.L265L	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Silent_p.L186L	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	265					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCCAACAGACCAGGAAGGTGA	0.378													101	23					0	0	0	0	T	241761198	C	T	241761198	2	4	5	1	0	0	0	0	0	0	0	1	10952	581	21	4		4	OPN3	1	241761198	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	3983075	241761198	7489423	43	1162											
OR2T12	127064	broad.mit.edu	37	chr1	248458280	248458280	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggagcattaacacacAgcagatgtacatggcgtttt	13	9	10	9	1	0	1	0	0	0	1	0	3	0	2	1	2	4	4	1	2	2	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:248458280A>T	ENST00000317996.1	-	1	600	c.601T>A	c.(601-603)Tgt>Agt	p.C201S		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATTAACACACAGCAGATGTAC	0.542													107	24					0	0	0	0	T	248458280	A	T	248458280	3	4	5	1	0	0	0	0	1	0	0	0	11090	188	7	5	364	5	OR2T12	1	248458280	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	6697082	248458280	792341	44	1163											
OR2G6	391211	broad.mit.edu	37	chr1	248685252	248685252	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctgtgtggcccagctctAtgtggccatggggttgggct	3	12	17	9	0	1	0	0	0	1	0	1	0	1	0	2	6	1	4	2	6	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:248685252A>T	ENST00000343414.4	+	1	337	c.305A>T	c.(304-306)tAt>tTt	p.Y102F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCCAGCTCTATGTGGCCATG	0.537													127	19					0	0	0	0	T	248685252	A	T	248685252	3	4	5	1	0	0	0	0	1	0	0	0	11071	449	16	5	307	5	OR2G6	1	248685252	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	226972	248685252	565369	45	1164											
OR14I1	401994	broad.mit.edu	37	chr1	248845040	248845040	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactctacaaagaaaaccTcacaggaaaccagggccaac	20	3	6	12	0	2	1	1	0	1	1	2	2	2	2	3	2	5	0	3	2	8	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:248845040T>A	ENST00000342623.3	-	1	589	c.566A>T	c.(565-567)gAg>gTg	p.E189V		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AAAGAAAACCTCACAGGAAAC	0.483													60	14					0	0	0	0	A	248845040	T	A	248845040	3	1	5	1	0	0	0	0	1	0	0	0	11018	1551	54	5	373	5	OR14I1	1	248845040	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	159788	248845040	405581	46	1165											
NTSR2	23620	broad.mit.edu	37	chr2	11802345	11802345	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttagtgccaaggggagcaCgaaggacaccagcacattca	14	5	12	10	1	1	0	1	0	0	0	1	3	1	2	2	3	3	3	2	3	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:11802345C>A	ENST00000306928.5	-	2	680	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	216					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AAGGGGAGCACGAAGGACACC	0.647													99	146					1.90545e-35	2.62556e-35	1	0	A	11802345	C	A	11802345	3	1	5	1	0	0	0	0	1	0	0	0	10782	536	19	3	598	3	NTSR2	2	11802345	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08		11802345	231397028	47	1166											
APOB	338	broad.mit.edu	37	chr2	21242655	21242655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctggcgttggagtaaGcgcctgaggtgcagtaattc	8	10	16	7	2	0	1	0	1	0	0	1	3	0	3	1	4	3	5	1	4	2	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:21242655G>A	ENST00000233242.1	-	19	3066	c.2939C>T	c.(2938-2940)gCt>gTt	p.A980V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	980					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTTGGAGTAAGCGCCTGAGGT	0.552													32	33					0	0	0	0	A	21242655	G	A	21242655	3	1	5	1	0	0	0	0	1	0	0	0	787	971	34	4	10796	4	APOB	2	21242655	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	9440310	21242655	221956718	48	1167											
CCDC85A	114800	broad.mit.edu	37	chr2	56602977	56602977	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggttgtcatcaggggcTgatgggagtaacagttcacc	9	12	13	7	0	3	1	3	1	0	0	3	2	3	2	1	4	1	4	1	4	2	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:56602977T>A	ENST00000407595.2	+	5	1981	c.1479T>A	c.(1477-1479)gcT>gcA	p.A493A	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	493										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CATCAGGGGCTGATGGGAGTA	0.408													49	57					0	0	0	0	A	56602977	T	A	56602977	2	1	5	1	0	0	0	0	0	0	0	1	2886	1567	55	5		5	CCDC85A	2	56602977	Silent	SNP	T	TCGA-BA-4078-01A-01D-1434-08	35360322	56602977	186596396	49	1168											
ATP6V1B1	525	broad.mit.edu	37	chr2	71189914	71189914	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctacacctccaggatcgagCggatcatcaccccgcgcctg	8	6	10	17	4	2	0	2	0	0	0	4	3	3	2	5	2	2	1	5	2	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:71189914C>G	ENST00000234396.4	+	9	866	c.793C>G	c.(793-795)Cgg>Ggg	p.R265G	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.R265G|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	265					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CAGGATCGAGCGGATCATCAC	0.582													35	83					0	0	0	0	G	71189914	C	G	71189914	3	3	5	1	0	0	0	0	1	0	0	0	1182	759	27	3	827	3	ATP6V1B1	2	71189914	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	14586937	71189914	172009459	50	1169											
PAIP2B	400961	broad.mit.edu	37	chr2	71429712	71429712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtatttgccatattggatCcattcattatgatggaacct	11	16	7	7	0	1	1	1	1	0	0	2	3	2	3	3	2	2	1	3	2	4	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:71429712C>A	ENST00000244221.8	-	2	174	c.8G>T	c.(7-9)gGa>gTa	p.G3V		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	3					negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding			large_intestine(1)|lung(1)	2						CATATTGGATCCATTCATTAT	0.378													78	87					1.25089e-41	1.78816e-41	1	0	A	71429712	C	A	71429712	3	1	5	1	0	0	0	0	1	0	0	0	11469	855	30	2	375	2	PAIP2B	2	71429712	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	239798	71429712	171769661	51	1170											
REG1A	5967	broad.mit.edu	37	chr2	79348763	79348763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgcctatcgctcctactGctactactttaatgaagacc	11	12	5	13	1	0	2	0	1	0	1	2	2	1	2	3	0	5	2	3	0	7	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:79348763G>T	ENST00000233735.1	+	3	243	c.140G>T	c.(139-141)tGc>tTc	p.C47F		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	47	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CGCTCCTACTGCTACTACTTT	0.542													133	199					1.3892e-51	2.08702e-51	1	0	T	79348763	G	T	79348763	3	4	5	1	0	0	0	0	1	0	0	0	13292	1319	46	4	146	4	REG1A	2	79348763	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	7919051	79348763	163850610	52	1171											
CTNNA2	1496	broad.mit.edu	37	chr2	80136777	80136777	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggttccggccgtccctgGaggagaggctggagagcatc	7	6	16	12	2	0	2	0	0	0	2	3	5	2	3	4	6	1	3	4	6	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:80136777G>T	ENST00000466387.1	+	11	1634	c.910G>T	c.(910-912)Gag>Tag	p.E304*	CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E304*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E304*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E338*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E304*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.E304*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	304					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCCGTCCCTGGAGGAGAGGCT	0.592													60	107					5.41189e-41	7.71938e-41	1	0	T	80136777	G	T	80136777	4	4	5	1	0	0	0	0	0	1	0	0	4045	1175	41	2		2	CTNNA2	2	80136777	Nonsense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	788014	80136777	163062596	53	1172											
TMEM150A	129303	broad.mit.edu	37	chr2	85829067	85829067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggcaggaggatccaggcgGtcatgagggaggggagccag	10	3	20	8	1	1	1	1	1	0	0	2	5	2	5	2	8	1	1	2	8	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:85829067G>T	ENST00000409668.1	-	1	472	c.5C>A	c.(4-6)aCc>aAc	p.T2N	TMEM150A_ENST00000306353.3_5'UTR|TMEM150A_ENST00000334462.5_Missense_Mutation_p.T2N			Q86TG1	T150A_HUMAN	transmembrane protein 150A	2						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						GATCCAGGCGGTCATGAGGGA	0.612													168	257					1.85097e-90	2.86019e-90	1	0	T	85829067	G	T	85829067	3	4	5	1	0	0	0	0	1	0	0	0	16161	1261	44	4	838	4	TMEM150A	2	85829067	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	5692290	85829067	157370306	54	1173											
AFF3	3899	broad.mit.edu	37	chr2	100625330	100625330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgtgccatcatcctgttGagtttcttgatttcttcttt	7	19	6	9	1	4	2	1	2	3	0	5	2	5	2	2	0	2	2	2	0	1	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:100625330G>T	ENST00000317233.4	-	4	353	c.118C>A	c.(118-120)Caa>Aaa	p.Q40K	AFF3_ENST00000409236.1_Missense_Mutation_p.Q40K|AFF3_ENST00000409579.1_Missense_Mutation_p.Q65K|AFF3_ENST00000356421.2_Missense_Mutation_p.Q65K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	40					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCATCCTGTTGAGTTTCTTGA	0.403													18	26					3.32936e-07	3.54804e-07	1	0	T	100625330	G	T	100625330	3	4	5	1	0	0	0	0	1	0	0	0	358	1299	45	2	3646	2	AFF3	2	100625330	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	14796263	100625330	142574043	55	1174											
RGPD3	653489	broad.mit.edu	37	chr2	107042508	107042508	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggaattatatgctggtGactgactataatatactgaa	14	13	9	5	0	0	3	0	3	0	0	0	4	0	4	0	2	2	1	0	2	8	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:107042508G>T	ENST00000409886.3	-	19	2729	c.2642C>A	c.(2641-2643)tCa>tAa	p.S881*	RGPD3_ENST00000304514.7_Nonsense_Mutation_p.S881*	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	881					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ATATGCTGGTGACTGACTATA	0.308													38	153					1.32667e-27	1.72202e-27	1	0	T	107042508	G	T	107042508	4	4	5	1	0	0	0	0	0	1	0	0	13369	1294	45	2	2654	2	RGPD3	2	107042508	Nonsense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	6417178	107042508	136156865	56	1175											
ARHGEF4	50649	broad.mit.edu	37	chr2	131797883	131797883	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatgttcagcgaggagcAgctgcgtaccatcttcggga	10	8	13	10	3	2	1	1	0	1	1	3	4	2	3	1	2	5	4	1	2	1	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:131797883A>T	ENST00000392953.3	+	8	1493	c.974A>T	c.(973-975)cAg>cTg	p.Q325L	ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q254L|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.Q325L|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Q325L|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000439368.2_3'UTR	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	325	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGCGAGGAGCAGCTGCGTACC	0.667													14	24					0	0	0	0	T	131797883	A	T	131797883	3	4	5	1	0	0	0	0	1	0	0	0	910	188	7	5	996	5	ARHGEF4	2	131797883	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	24755375	131797883	111401490	57	1176											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135878405	135878405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagggatgtcctttaactcCattgcctccagttagtattg	8	15	8	10	0	0	0	0	0	0	0	3	1	3	1	4	1	2	2	4	1	4	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:135878405C>T	ENST00000264158.8	+	8	708	c.665C>T	c.(664-666)cCa>cTa	p.P222L	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.P178L|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.P222L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	222						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CCTTTAACTCCATTGCCTCCA	0.378													93	138					0	0	0	0	T	135878405	C	T	135878405	3	4	5	1	0	0	0	0	1	0	0	0	13017	594	21	4	695	4	RAB3GAP1	2	135878405	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	4080522	135878405	107320968	58	1177											
LRP1B	53353	broad.mit.edu	37	chr2	141460022	141460022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcgatggagatgccattcgGccatgctattcccatgctta	8	12	10	11	2	0	1	0	0	0	1	3	3	1	1	3	2	3	2	3	2	2	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:141460022G>A	ENST00000389484.3	-	38	7095	c.6124C>T	c.(6124-6126)Ccg>Tcg	p.P2042S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2042					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGCCATTCGGCCATGCTATT	0.433										TSP Lung(27;0.18)			49	111					0	0	0	0	A	141460022	G	A	141460022	3	1	5	1	0	0	0	0	1	0	0	0	9019	1203	42	4	7891	4	LRP1B	2	141460022	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	5581617	141460022	101739351	59	1178											
ZEB2	9839	broad.mit.edu	37	chr2	145147422	145147422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccgcctcccgcttgcAgtaggaatacctgtgattca	7	11	8	15	2	1	1	1	1	0	0	4	2	4	2	5	1	2	3	5	1	3	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:145147422A>G	ENST00000558170.2	-	10	4425	c.3241T>C	c.(3241-3243)Tgc>Cgc	p.C1081R	ZEB2_ENST00000303660.4_Missense_Mutation_p.C1081R|ZEB2_ENST00000409487.3_Missense_Mutation_p.C1081R|ZEB2_ENST00000539609.3_Missense_Mutation_p.C1057R	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1081						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCCGCTTGCAGTAGGAATAC	0.602													47	73					0	0	0	0	G	145147422	A	G	145147422	3	3	5	1	0	0	0	0	1	0	0	0	17719	188	7	5	407	5	ZEB2	2	145147422	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	3687400	145147422	98051951	60	1179											
MBD5	55777	broad.mit.edu	37	chr2	149240960	149240960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaatcaacagcatctcCtaaaccagaatctattaaat	17	10	4	10	0	3	2	1	1	2	1	4	2	3	2	2	0	3	1	2	0	8	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:149240960C>G	ENST00000407073.1	+	10	3797	c.2800C>G	c.(2800-2802)Cta>Gta	p.L934V	MBD5_ENST00000404807.1_Missense_Mutation_p.L934V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	934						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACAGCATCTCCTAAACCAGAA	0.468													116	219					0	0	0	0	G	149240960	C	G	149240960	3	3	5	1	0	0	0	0	1	0	0	0	9416	680	24	4	2818	4	MBD5	2	149240960	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	4093538	149240960	93958413	61	1180											
TBR1	10716	broad.mit.edu	37	chr2	162273105	162273105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaccagggggatgacgaatCagtcagatacagacaatttt	14	10	10	7	1	2	3	2	1	0	2	2	5	2	4	1	2	2	0	1	2	4	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:162273105C>G	ENST00000389554.3	+	1	501	c.184C>G	c.(184-186)Cag>Gag	p.Q62E		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	62						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GATGACGAATCAGTCAGATAC	0.493													66	91					0	0	0	0	G	162273105	C	G	162273105	3	3	5	1	0	0	0	0	1	0	0	0	15741	827	29	2	186	2	TBR1	2	162273105	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	13032145	162273105	80926268	62	1181											
LRP2	4036	broad.mit.edu	37	chr2	170062967	170062967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcatagtctagagacatGacagttctttccacatttat	11	15	6	9	0	3	2	1	1	2	1	4	3	4	2	1	0	0	1	1	0	3	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:170062967G>A	ENST00000263816.3	-	39	7548	c.7263C>T	c.(7261-7263)gtC>gtT	p.V2421V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2421					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTAGAGACATGACAGTTCTTT	0.413													71	96					0	0	0	0	A	170062967	G	A	170062967	2	1	5	1	0	0	0	0	0	0	0	1	9020	1277	45	2		2	LRP2	2	170062967	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	7789862	170062967	73136406	63	1182											
PPIG	9360	broad.mit.edu	37	chr2	170462555	170462555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttatctctataggtgaaaAggggaccgggaaatcaactc	13	11	10	7	1	2	1	1	1	1	0	4	3	2	3	1	4	1	0	1	4	7	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:170462555A>G	ENST00000260970.3	+	5	363	c.143A>G	c.(142-144)aAg>aGg	p.K48R	PPIG_ENST00000462903.1_Missense_Mutation_p.K48R|PPIG_ENST00000409714.3_Missense_Mutation_p.K48R|PPIG_ENST00000448752.2_Missense_Mutation_p.K48R	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	48	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATAGGTGAAAAGGGGACCGGG	0.353													3	137					0	0	0	0	G	170462555	A	G	170462555	3	3	5	1	0	0	0	0	1	0	0	0	12400	72	3	5	153	5	PPIG	2	170462555	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	399588	170462555	72736818	64	1183											
HOXD8	3234	broad.mit.edu	37	chr2	176995440	176995440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctcctcctccgcatcctCcgcctccgccgccacctccc	2	7	4	28	4	0	0	0	0	0	0	7	0	7	0	13	0	0	1	13	0	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:176995440C>A	ENST00000313173.4	+	1	973	c.346C>A	c.(346-348)Ccg>Acg	p.P116T	HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000450510.2_Missense_Mutation_p.P116T|HOXD8_ENST00000544999.1_Missense_Mutation_p.P116T|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	116	Poly-Pro.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		tccgcatcctccgcctccgcc	0.692													77	90					2.36143e-25	2.99916e-25	1	0	A	176995440	C	A	176995440	3	1	5	1	0	0	0	0	1	0	0	0	7375	855	30	2	348	2	HOXD8	2	176995440	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	6532885	176995440	66203933	65	1184											
HOXD4	3233	broad.mit.edu	37	chr2	177016671	177016671	+	Frame_Shift_Del	DEL	C	C	-																															cagctcccccggcgcctccgCcggcgcccctgcctggcgcc																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:177016671delC	ENST00000306324.3	+	1	722	c.310delC	c.(310-312)cgfs	p.P104fs	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	104						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ggcgcctccgccggcgcccct	0.756													16	22	---	---	---	---					-	177016671	C	-	177016671	7	5	5	1	0	1	0	1	0	0	0	0	7374	739	26	0	312	0	HOXD4	2	177016671	Frame_Shift_Del	DEL	C	TCGA-BA-4078-01A-01D-1434-08	21231	177016671	66182702	66	1185											
TTN	7273	broad.mit.edu	37	chr2	179427269	179427269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactcttccaggtgggagggGtggttcagacactttaacgg	8	11	14	8	1	2	1	1	0	1	1	3	2	3	2	1	6	2	1	1	6	2	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:179427269G>A	ENST00000589042.1	-	326	83814	c.83590C>T	c.(83590-83592)Ccc>Tcc	p.P27864S	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P18799S|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18924S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18991S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P25296S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P26223S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26223	Ig-like 130.						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)			GGTGGGAGGGGTGGTTCAGAC	0.448													52	76					0	0	0	0	A	179427269	G	A	179427269	3	1	5	1	0	0	0	0	1	0	0	0	16831	1261	44	4	24537	4	TTN	2	179427269	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2410598	179427269	63772104	67	1186											
TTN	7273	broad.mit.edu	37	chr2	179470333	179470333	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgccgtttttcaatgatatAtccttggatgggactgccac	9	13	9	10	2	1	1	1	1	0	0	2	3	2	3	3	2	1	1	3	2	3	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:179470333A>G	ENST00000589042.1	-	279	53913	c.53689T>C	c.(53689-53691)Tat>Cat	p.Y17897H	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y8832H|TTN_ENST00000359218.5_Missense_Mutation_p.Y8957H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y9024H|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y15329H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y16256H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16256	Fibronectin type-III 29.						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)			TCAATGATATATCCTTGGATG	0.443													76	133					0	0	0	0	G	179470333	A	G	179470333	3	3	5	1	0	0	0	0	1	0	0	0	16831	449	16	5	54340	5	TTN	2	179470333	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	43064	179470333	63729040	68	1187											
TTN	7273	broad.mit.edu	37	chr2	179583155	179583155	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaagaatttccagtatGgtagatttttctgtcatagt	10	17	7	7	0	3	2	2	0	2	2	5	2	4	2	1	1	0	2	1	1	5	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:179583155G>T	ENST00000589042.1	-	85	24902	c.24678C>A	c.(24676-24678)acC>acA	p.T8226T	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T6982T|TTN_ENST00000591111.1_Silent_p.T7909T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7909	Ig-like 64.						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)			TTTCCAGTATGGTAGATTTTT	0.418													49	62					2.13384e-23	2.65808e-23	1	0	T	179583155	G	T	179583155	2	4	5	1	0	0	0	0	0	0	0	1	16831	1335	47	4		4	TTN	2	179583155	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	112822	179583155	63616218	69	1188											
ZSWIM2	151112	broad.mit.edu	37	chr2	187703843	187703844	+	Frame_Shift_Ins	INS	-	-	C																															ggagtttgaactcgatgtatINScccccgaagcaagtcactta																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:187703843_187703844insC	ENST00000295131.2	-	4	375_376	c.336_337insG	c.(334-339)ggtacafs	p.T113fs		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	113					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ACTCGATGTATCCCCCGAAGCA	0.391													111	214	---	---	---	---					C	187703844	-	C	187703843	7	5	5	1	0	1	1	0	0	0	0	0	18332	1435	50	0	1588	0	ZSWIM2	2	187703843	Frame_Shift_Ins	INS	-	TCGA-BA-4078-01A-01D-1434-08	8120688	187703843	55495530	70	1189											
C2orf88	84281	broad.mit.edu	37	chr2	191064816	191064816	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgatgccttgcagcaatGggcatgcaataacatcaagt	12	10	11	8	0	1	1	1	1	0	0	1	1	1	1	1	1	5	4	1	1	4	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:191064816G>A	ENST00000340623.4	+	2	641	c.230G>A	c.(229-231)tGg>tAg	p.W77*	C2orf88_ENST00000409870.1_Nonsense_Mutation_p.W77*|C2orf88_ENST00000396974.2_Nonsense_Mutation_p.W77*|C2orf88_ENST00000443551.2_Nonsense_Mutation_p.W77*	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN	chromosome 2 open reading frame 88	77										kidney(1)|large_intestine(1)|lung(1)	3						TTGCAGCAATGGGCATGCAAT	0.473													130	204					0	0	0	0	A	191064816	G	A	191064816	4	1	5	1	0	0	0	0	0	1	0	0	2222	1357	47	4	232	4	C2orf88	2	191064816	Nonsense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3360973	191064816	52134557	71	1190											
DNAH7	56171	broad.mit.edu	37	chr2	196659124	196659124	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatgaggtatgatcgaaTgatattagcccgtaaacctt	12	12	9	8	2	0	3	0	3	0	0	2	4	1	3	3	1	2	2	3	1	6	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:196659124T>A	ENST00000312428.6	-	57	10754	c.10654A>T	c.(10654-10656)Att>Ttt	p.I3552F	DNAH7_ENST00000409063.1_Missense_Mutation_p.I35F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3552	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATGATCGAATGATATTAGCC	0.453													71	95					0	0	0	0	A	196659124	T	A	196659124	3	1	5	1	0	0	0	0	1	0	0	0	4642	1464	51	5	1456	5	DNAH7	2	196659124	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	5594308	196659124	46540249	72	1191											
ERBB4	2066	broad.mit.edu	37	chr2	212288906	212288906	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgaccatgtaaacgtcaAtagtgcagatgggaggctga	13	8	12	8	1	1	3	1	2	0	1	1	4	1	4	2	2	2	3	2	2	4	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:212288906A>G	ENST00000342788.4	-	23	3150	c.2840T>C	c.(2839-2841)aTt>aCt	p.I947T	ERBB4_ENST00000402597.1_Missense_Mutation_p.I937T|ERBB4_ENST00000436443.1_Missense_Mutation_p.I947T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	947	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTAAACGTCAATAGTGCAGAT	0.388										TSP Lung(8;0.080)			70	105					0	0	0	0	G	212288906	A	G	212288906	3	3	5	1	0	0	0	0	1	0	0	0	5247	101	4	5	1110	5	ERBB4	2	212288906	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	15629782	212288906	30910467	73	1192											
CTDSP1	58190	broad.mit.edu	37	chr2	219267845	219267845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttcactgctagcctcGccaaggtgagccccacaggg	7	8	12	14	1	1	1	1	1	0	0	2	1	1	1	4	2	4	3	4	2	2	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:219267845G>A	ENST00000273062.2	+	5	802	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.A155T	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	156	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTAGCCTCGCCAAGGTGAG	0.642													51	73					0	0	0	0	A	219267845	G	A	219267845	3	1	5	1	0	0	0	0	1	0	0	0	4035	1087	38	1	484	1	CTDSP1	2	219267845	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	6978939	219267845	23931528	74	1193											
WDFY1	57590	broad.mit.edu	37	chr2	224765920	224765920	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacacgaagcccaggaCgtgaagaagtgcctcccgag	12	4	13	12	3	0	3	0	1	0	2	1	6	1	4	3	1	3	1	3	1	3	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:224765920C>T	ENST00000233055.4	-	5	567	c.465G>A	c.(463-465)acG>acA	p.T155T		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	155						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		AAGCCCAGGACGTGAAGAAGT	0.577													50	75					0	0	0	0	T	224765920	C	T	224765920	2	4	5	1	0	0	0	0	0	0	0	1	17364	523	19	1		1	WDFY1	2	224765920	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	5498075	224765920	18433453	75	1194											
DOCK10	55619	broad.mit.edu	37	chr2	225659685	225659685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgcttgcgtaggagtttgCcaggctgtactggagatcca	8	11	14	8	1	0	1	0	0	0	1	1	3	1	2	2	3	4	5	2	3	2	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:225659685C>T	ENST00000409592.3	-	45	5160	c.5047G>A	c.(5047-5049)Gca>Aca	p.A1683T	DOCK10_ENST00000258390.7_Missense_Mutation_p.A1689T			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1689	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TAGGAGTTTGCCAGGCTGTAC	0.517													5	275					0	0	0	0	T	225659685	C	T	225659685	3	4	5	1	0	0	0	0	1	0	0	0	4721	739	26	4	1543	4	DOCK10	2	225659685	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	893765	225659685	17539688	76	1195											
COL4A4	1286	broad.mit.edu	37	chr2	227985813	227985813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaaagcccaatgggtcctgGggctcccaggggtccaattg	8	8	14	11	0	0	1	0	1	0	0	3	1	3	1	4	5	1	1	4	5	3	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:227985813G>A	ENST00000396625.3	-	5	451	c.244C>T	c.(244-246)Cca>Tca	p.P82S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P82S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	82	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATGGGTCCTGGGGCTCCCAGG	0.542													59	72					0	0	0	0	A	227985813	G	A	227985813	3	1	5	1	0	0	0	0	1	0	0	0	3723	1232	43	4	5004	4	COL4A4	2	227985813	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2326128	227985813	15213560	77	1196											
DIS3L2	129563	broad.mit.edu	37	chr2	233198642	233198642	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacacacacttcacctcGcccatccgccgctttgccga	7	9	6	19	4	1	0	1	0	0	0	3	1	2	0	5	0	2	2	5	0	1	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:233198642G>A	ENST00000325385.7	+	17	2379	c.2103G>A	c.(2101-2103)tcG>tcA	p.S701S	DIS3L2_ENST00000409307.1_Silent_p.S701S|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	701							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		ACTTCACCTCGCCCATCCGCC	0.667													58	97					0	0	0	0	A	233198642	G	A	233198642	2	1	5	1	0	0	0	0	0	0	0	1	4574	1074	38	1		1	DIS3L2	2	233198642	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	5212829	233198642	10000731	78	1197											
CHRND	1144	broad.mit.edu	37	chr2	233394727	233394727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctggacagccccagccGccaggacatcaccttctacc	8	6	7	20	1	3	0	1	0	2	0	3	2	3	2	7	2	3	0	7	2	1	2	rs146416320		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:233394727G>T	ENST00000258385.3	+	7	730	c.698G>T	c.(697-699)cGc>cTc	p.R233L	CHRND_ENST00000543200.1_Missense_Mutation_p.R218L|CHRND_ENST00000536614.1_Silent_p.P196P|CHRND_ENST00000457943.2_Intron	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	233					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.R233H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		AGCCCCAGCCGCCAGGACATC	0.617													56	103					4.32865e-36	5.98996e-36	1	0	T	233394727	G	T	233394727	3	4	5	1	0	0	0	0	1	0	0	0	3423	1087	38	3	724	3	CHRND	2	233394727	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	196085	233394727	9804646	79	1198											
NGEF	25791	broad.mit.edu	37	chr2	233839522	233839522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcaggtttcaccttggctgGttcattatcagtgttccatt	6	17	8	10	0	4	0	4	0	0	0	5	0	5	0	2	3	0	4	2	3	1	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:233839522G>T	ENST00000264051.3	-	2	357	c.79C>A	c.(79-81)Cca>Aca	p.P27T		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	27	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ACCTTGGCTGGTTCATTATCA	0.443													81	125					1.51875e-23	1.89917e-23	1	0	T	233839522	G	T	233839522	3	4	5	1	0	0	0	0	1	0	0	0	10464	1261	44	4	2220	4	NGEF	2	233839522	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	444795	233839522	9359851	80	1199											
TRPM8	79054	broad.mit.edu	37	chr2	234904971	234904971	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctctcttccctcaccagcTacacggtgggcaccgtccag	6	10	8	17	2	3	0	1	0	2	0	6	0	5	0	4	2	2	2	4	2	1	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:234904971T>G	ENST00000324695.4	+	22	2981	c.2939_splice	c.e22-1	p.Y981_splice	TRPM8_ENST00000433712.2_Splice_Site_p.Y559_splice	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	981						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCTCACCAGCTACACGGTGGG	0.512													45	74					0	0	0	0	G	234904971	T	G	234904971	5	3	5	1	0	0	0	0	0	0	1	0	16687	1536	53	5	3023	5	TRPM8	2	234904971	Splice_Site	SNP	T	TCGA-BA-4078-01A-01D-1434-08	1065449	234904971	8294402	81	1200											
COL6A3	1293	broad.mit.edu	37	chr2	238283363	238283363	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctgttatcctgcttcccGcagagctgaccaggatgttc	6	13	9	13	1	1	2	0	1	1	1	4	3	3	3	3	1	2	5	3	1	1	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:238283363G>C	ENST00000295550.4	-	8	3823	c.3371C>G	c.(3370-3372)gCg>gGg	p.A1124G	COL6A3_ENST00000392003.2_Missense_Mutation_p.A717G|COL6A3_ENST00000472056.1_Missense_Mutation_p.A517G|COL6A3_ENST00000346358.4_Missense_Mutation_p.A924G|COL6A3_ENST00000409809.1_Missense_Mutation_p.A918G|COL6A3_ENST00000347401.3_Missense_Mutation_p.A923G|COL6A3_ENST00000392004.3_Missense_Mutation_p.A918G|COL6A3_ENST00000353578.4_Missense_Mutation_p.A918G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1124	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTGCTTCCCGCAGAGCTGAC	0.647													45	68					0	0	0	0	C	238283363	G	C	238283363	3	2	5	1	0	0	0	0	1	0	0	0	3731	1087	38	3	6357	3	COL6A3	2	238283363	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3378392	238283363	4916010	82	1201											
CAPN10	11132	broad.mit.edu	37	chr2	241533429	241533429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcggatccagaacccctgGggccggcggtgctggcaggg	5	5	18	13	3	0	1	0	0	0	1	1	2	1	2	4	7	3	2	4	7	1	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:241533429G>T	ENST00000391984.2	+	5	991	c.795G>T	c.(793-795)tgG>tgT	p.W265C	CAPN10_ENST00000404753.3_Missense_Mutation_p.W265C|CAPN10_ENST00000391982.2_Missense_Mutation_p.W265C|CAPN10_ENST00000354082.4_Missense_Mutation_p.W265C|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	265	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGAACCCCTGGGGCCGGCGGT	0.692													86	106					1.42954e-44	2.08488e-44	1	0	T	241533429	G	T	241533429	3	4	5	1	0	0	0	0	1	0	0	0	2648	1241	43	4	813	4	CAPN10	2	241533429	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3250066	241533429	1665944	83	1202											
LRRN1	57633	broad.mit.edu	37	chr3	3886403	3886403	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcattaaccgagtcttcCatacagaatagtgagtgtcc	12	12	7	10	1	2	2	1	1	1	1	4	3	4	2	3	0	2	0	3	0	4	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:3886403C>A	ENST00000319331.3	+	2	839	c.78C>A	c.(76-78)tcC>tcA	p.S26S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	26	LRRNT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCGAGTCTTCCATACAGAATA	0.463													59	19					4.10029e-35	5.61411e-35	1	0	A	3886403	C	A	3886403	2	1	5	1	0	0	0	0	0	0	0	1	9098	581	21	4		4	LRRN1	3	3886403	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08		3886403	194136027	84	1203											
PLCL2	23228	broad.mit.edu	37	chr3	17056221	17056221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgcggtggtgtcattcaagGagctgtgtggcctctcctct	5	13	13	10	1	4	0	2	0	2	0	5	1	4	1	2	4	2	1	2	4	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:17056221G>A	ENST00000418129.2	+	3	2923	c.2458G>A	c.(2458-2460)Gag>Aag	p.E820K	PLCL2_ENST00000432376.1_Missense_Mutation_p.E820K|PLCL2_ENST00000396755.2_Missense_Mutation_p.E820K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	946	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTCATTCAAGGAGCTGTGTGG	0.463													173	43					0	0	0	0	A	17056221	G	A	17056221	3	1	5	1	0	0	0	0	1	0	0	0	12112	1175	41	2	2840	2	PLCL2	3	17056221	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	13169818	17056221	180966209	85	1204											
EOMES	8320	broad.mit.edu	37	chr3	27763724	27763724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcgcgcactctccagcGggtagaagtgcgcgccaggc	6	5	14	16	6	1	1	0	0	1	1	3	1	1	1	3	2	2	2	3	2	2	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:27763724G>T	ENST00000295743.4	-	1	265	c.62C>A	c.(61-63)cCg>cAg	p.P21Q	EOMES_ENST00000449599.1_Missense_Mutation_p.P21Q|EOMES_ENST00000537516.1_Intron|EOMES_ENST00000461503.1_Intron			O95936	EOMES_HUMAN	eomesodermin	21					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACTCTCCAGCGGGTAGAAGTG	0.642													6	2					0.00198382	0.00203396	1	0	T	27763724	G	T	27763724	3	4	5	1	0	0	0	0	1	0	0	0	5185	1116	39	3	2022	3	EOMES	3	27763724	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	10707503	27763724	170258706	86	1205											
ANO10	55129	broad.mit.edu	37	chr3	43474181	43474181	+	Frame_Shift_Del	DEL	G	G	-																															tgccgtggcttatcaggtatGgcaaatgcaagtataaactt																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:43474181delG	ENST00000292246.3	-	12	2006	c.1836delC	c.(1834-1836)gcfs	p.A612fs	ANO10_ENST00000396091.3_Frame_Shift_Del_p.A546fs|ANO10_ENST00000414522.2_Intron|ANO10_ENST00000451430.2_Frame_Shift_Del_p.A501fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.A422fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	612					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						TATCAGGTATGGCAAATGCAA	0.423													59	18	---	---	---	---					-	43474181	G	-	43474181	7	5	5	1	0	1	0	1	0	0	0	0	695	1335	47	0	154	0	ANO10	3	43474181	Frame_Shift_Del	DEL	G	TCGA-BA-4078-01A-01D-1434-08	15710457	43474181	154548249	87	1206											
LAMB2	3913	broad.mit.edu	37	chr3	49161040	49161040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgagctgagtcaggtgCtcagtggcctccccaatttc	6	10	11	14	1	2	1	2	1	0	0	5	2	3	1	4	2	2	2	4	2	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:49161040C>T	ENST00000418109.1	-	26	3986	c.3822G>A	c.(3820-3822)gaG>gaA	p.E1274E	LAMB2_ENST00000305544.4_Silent_p.E1274E	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1274	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGTCAGGTGCTCAGTGGCCT	0.557													69	25					0	0	0	0	T	49161040	C	T	49161040	2	4	5	1	0	0	0	0	0	0	0	1	8664	796	28	4		4	LAMB2	3	49161040	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	5686859	49161040	148861390	88	1207											
AMIGO3	386724	broad.mit.edu	37	chr3	49755619	49755619	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactgtgcgctcagctctTggagcgggctgggtgtttgg	4	11	18	8	2	2	0	1	0	1	0	2	2	2	2	0	5	3	4	0	5	0	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:49755619T>G	ENST00000535833.1	-	10	4730	c.1280A>C	c.(1279-1281)cAa>cCa	p.Q427P	AMIGO3_ENST00000320431.7_Missense_Mutation_p.Q427P|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000327697.6_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	427					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTCAGCTCTTGGAGCGGGCT	0.682													74	27					0	0	0	0	G	49755619	T	G	49755619	3	3	5	1	0	0	0	0	1	0	0	0	577	1812	63	5	238	5	AMIGO3	3	49755619	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	594579	49755619	148266811	89	1208											
CACNA2D2	9254	broad.mit.edu	37	chr3	50421637	50421637	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacactcacagcctttgtaGatgtccgtagggatctgtac	9	11	10	11	1	2	1	1	0	1	1	3	2	3	2	2	1	2	4	2	1	3	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:50421637G>A	ENST00000435965.1	-	6	815	c.642C>T	c.(640-642)atC>atT	p.I214I	CACNA2D2_ENST00000479441.1_Silent_p.I214I|CACNA2D2_ENST00000429770.1_Silent_p.I214I|CACNA2D2_ENST00000424201.2_Silent_p.I214I|CACNA2D2_ENST00000423994.2_Silent_p.I214I|CACNA2D2_ENST00000395083.1_Silent_p.I214I|CACNA2D2_ENST00000360963.3_Silent_p.I145I|CACNA2D2_ENST00000266039.3_Silent_p.I214I			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	214					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	AGCCTTTGTAGATGTCCGTAG	0.567													219	70					0	0	0	0	A	50421637	G	A	50421637	2	1	5	1	0	0	0	0	0	0	0	1	2574	932	33	2		2	CACNA2D2	3	50421637	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	666018	50421637	147600793	90	1209											
FOXP1	27086	broad.mit.edu	37	chr3	71247394	71247394	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcgaggtcagctgcccCgatgtccacggccggcgtct	4	7	16	14	5	2	0	1	0	1	0	3	2	3	0	4	4	2	1	4	4	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:71247394C>A	ENST00000318789.4	-	6	664	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	FOXP1_ENST00000475937.1_Missense_Mutation_p.G47W|FOXP1_ENST00000484350.1_Missense_Mutation_p.G47W|FOXP1_ENST00000468577.1_Missense_Mutation_p.G47W|FOXP1_ENST00000493089.1_Missense_Mutation_p.G47W|FOXP1_ENST00000318779.3_Missense_Mutation_p.G47W|FOXP1_ENST00000498215.1_Missense_Mutation_p.G47W	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	47					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TCAGCTGCCCCGATGTCCACG	0.627			T	PAX5	ALL								85	38					5.00163e-47	7.41109e-47	1	0	A	71247394	C	A	71247394	3	1	5	1	0	0	0	0	1	0	0	0	6073	652	23	3	2127	3	FOXP1	3	71247394	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	20825757	71247394	126775036	91	1210											
PDZRN3	23024	broad.mit.edu	37	chr3	73433465	73433465	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgctcgagctgtccttgTcggatttctccgggagctcg	4	11	14	12	5	1	0	0	0	1	0	6	3	2	2	2	3	2	3	2	3	0	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:73433465T>C	ENST00000263666.4	-	10	2366	c.2252A>G	c.(2251-2253)gAc>gGc	p.D751G	PDZRN3_ENST00000462146.2_Missense_Mutation_p.D408G|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D468G|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D408G|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D473G	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	751							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCTGTCCTTGTCGGATTTCTC	0.617													26	12					0	0	0	0	C	73433465	T	C	73433465	3	2	5	1	0	0	0	0	1	0	0	0	11780	1667	58	5	952	5	PDZRN3	3	73433465	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	2186071	73433465	124588965	92	1211											
ROBO2	6092	broad.mit.edu	37	chr3	77666777	77666777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccaacacctcctgttcgagGcgtggcttcttctcctgcta	5	12	8	16	2	2	0	0	0	2	0	5	1	3	0	4	2	2	3	4	2	2	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:77666777G>A	ENST00000461745.1	+	22	4307	c.3407G>A	c.(3406-3408)gGc>gAc	p.G1136D	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Missense_Mutation_p.G1152D|ROBO2_ENST00000332191.8_Missense_Mutation_p.G1136D	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1136					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTGTTCGAGGCGTGGCTTCT	0.527													85	21					0	0	0	0	A	77666777	G	A	77666777	3	1	5	1	0	0	0	0	1	0	0	0	13599	1203	42	4	3495	4	ROBO2	3	77666777	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	4233312	77666777	120355653	93	1212											
EPHA3	2042	broad.mit.edu	37	chr3	89521722	89521722	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgcaaggaaatcttcacGggtgtggagtacagttcttg	10	11	12	8	1	3	0	1	0	2	0	3	2	3	2	0	3	2	3	0	3	3	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:89521722G>T	ENST00000336596.2	+	16	3024	c.2799G>T	c.(2797-2799)acG>acT	p.T933T	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	933	SAM.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAATCTTCACGGGTGTGGAGT	0.413										TSP Lung(6;0.00050)			60	28					1.32218e-49	1.9681e-49	1	0	T	89521722	G	T	89521722	2	4	5	1	0	0	0	0	0	0	0	1	5206	1103	39	3		3	EPHA3	3	89521722	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	11854945	89521722	108500708	94	1213											
NSUN3	63899	broad.mit.edu	37	chr3	93783304	93783304	+	Missense_Mutation	SNP	G	G	T																															aaagcaaaatcagaggggaaGcttgcaaaacagatttgcaa																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:93783304G>T	ENST00000314622.4	+	2	247	c.36G>T	c.(34-36)aaG>aaT	p.K12N	NSUN3_ENST00000485793.1_3'UTR	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	12							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CAGAGGGGAAGCTTGCAAAAC	0.358													30	105					2.81731e-10	3.09905e-10	1	0	T	93783304	G	T	93783304	3	4	5	1	0	0	0	0	1	0	0	0	10750	962	34	4	42	4	NSUN3	3	93783304	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	4261582	93783304	104239126	95	1214	21	2									
NSUN3	63899	broad.mit.edu	37	chr3	93783306	93783306	+	Missense_Mutation	SNP	T	T	A																															agcaaaatcagaggggaagcTtgcaaaacagatttgcaaag																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:93783306T>A	ENST00000314622.4	+	2	249	c.38T>A	c.(37-39)cTt>cAt	p.L13H	NSUN3_ENST00000485793.1_3'UTR	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	13							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GAGGGGAAGCTTGCAAAACAG	0.363													30	104					0	0	0	0	A	93783306	T	A	93783306	3	1	5	1	0	0	0	0	1	0	0	0	10750	1609	56	5	44	5	NSUN3	3	93783306	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	2	93783306	104239124	96	1215	21	2									
EPHA6	285220	broad.mit.edu	37	chr3	96706794	96706794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggttcctcttggaaggtgCatctgcagtacaggatatga	9	12	12	8	0	2	1	0	1	2	0	3	3	3	3	1	4	3	4	1	4	3	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:96706794C>T	ENST00000389672.5	+	3	1109	c.1071C>T	c.(1069-1071)tgC>tgT	p.C357C	EPHA6_ENST00000470610.2_Silent_p.C357C|EPHA6_ENST00000542517.1_Silent_p.C263C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	262	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGGAAGGTGCATCTGCAGTA	0.383													57	207					0	0	0	0	T	96706794	C	T	96706794	2	4	5	1	0	0	0	0	0	0	0	1	5209	718	25	4		4	EPHA6	3	96706794	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2923488	96706794	101315636	97	1216											
FILIP1L	11259	broad.mit.edu	37	chr3	99567165	99567165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtgattgtcgaggaagagGtgtggctgttggtgtgatag	7	14	18	2	1	0	3	0	2	0	1	1	5	0	4	0	4	0	2	0	4	2	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:99567165G>A	ENST00000331335.5	-	5	3825	c.3355C>T	c.(3355-3357)Cct>Tct	p.P1119S	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.P1119S|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P879S|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.P879S|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.P695S	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1119						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CGAGGAAGAGGTGTGGCTGTT	0.413													75	258					0	0	0	0	A	99567165	G	A	99567165	3	1	5	1	0	0	0	0	1	0	0	0	5940	1261	44	4	81	4	FILIP1L	3	99567165	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2860371	99567165	98455265	98	1217											
GPR128	84873	broad.mit.edu	37	chr3	100349615	100349615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatcccagtgggcagatatgGaccatccttgcaaacatgtg	12	9	10	10	0	0	1	0	0	0	1	2	2	2	2	3	2	2	2	3	2	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:100349615G>T	ENST00000273352.3	+	3	564	c.296G>T	c.(295-297)gGa>gTa	p.G99V		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	99					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GGCAGATATGGACCATCCTTG	0.348													88	107					5.34484e-38	7.45979e-38	1	0	T	100349615	G	T	100349615	3	4	5	1	0	0	0	0	1	0	0	0	6690	1174	41	2	306	2	GPR128	3	100349615	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	782450	100349615	97672815	99	1218											
GPR128	84873	broad.mit.edu	37	chr3	100373869	100373869	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaccattaacatcccgaatCccatgtgcactgcgattgcc	11	9	6	15	2	0	0	0	0	0	0	2	2	2	0	4	0	4	1	4	0	2	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:100373869C>A	ENST00000273352.3	+	12	1838	c.1570C>A	c.(1570-1572)Ccc>Acc	p.P524T	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.P229T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	524					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CATCCCGAATCCCATGTGCAC	0.423													286	380					2.29708e-82	3.5411e-82	1	0	A	100373869	C	A	100373869	3	1	5	1	0	0	0	0	1	0	0	0	6690	855	30	2	1616	2	GPR128	3	100373869	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	24254	100373869	97648561	100	1219											
CEP97	79598	broad.mit.edu	37	chr3	101477063	101477063	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaacttcagagaaacttcCcatgattttaacccagagat	15	10	6	10	0	1	3	1	1	0	2	2	5	2	3	2	0	4	1	2	0	3	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:101477063C>G	ENST00000341893.3	+	9	2365	c.1613C>G	c.(1612-1614)cCc>cGc	p.P538R	CEP97_ENST00000327230.4_Missense_Mutation_p.P538R|CEP97_ENST00000494050.1_Missense_Mutation_p.P479R			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	538	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GAGAAACTTCCCATGATTTTA	0.418													90	349					0	0	0	0	G	101477063	C	G	101477063	3	3	5	1	0	0	0	0	1	0	0	0	3292	623	22	4	1647	4	CEP97	3	101477063	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	1103194	101477063	96545367	101	1220											
MYH15	22989	broad.mit.edu	37	chr3	108159997	108159997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagctcagaatttatctcCtcttcttcctccaccctctc	6	15	3	17	0	6	1	2	0	4	1	10	1	8	1	4	0	1	1	4	0	2	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:108159997C>T	ENST00000273353.3	-	24	2882	c.2826G>A	c.(2824-2826)gaG>gaA	p.E942E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	942						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AATTTATCTCCTCTTCTTCCT	0.478													83	256					0	0	0	0	T	108159997	C	T	108159997	2	4	5	1	0	0	0	0	0	0	0	1	10104	680	24	4		4	MYH15	3	108159997	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	6682934	108159997	89862433	102	1221											
COL6A5	256076	broad.mit.edu	37	chr3	130188184	130188184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatatttgtgttttcctttGgccctaaacacaatgacaaa	12	14	5	10	0	0	1	0	1	0	0	1	1	1	1	3	1	1	1	3	1	5	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:130188184G>T	ENST00000265379.6	+	38	7830	c.7336G>T	c.(7336-7338)Ggc>Tgc	p.G2446C	COL6A5_ENST00000432398.2_Missense_Mutation_p.G2446C			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2446	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTTTTCCTTTGGCCCTAAACA	0.443													23	105					2.32416e-17	2.69835e-17	1	0	T	130188184	G	T	130188184	3	4	5	1	0	0	0	0	1	0	0	0	3732	1348	47	4	7482	4	COL6A5	3	130188184	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	22028187	130188184	67834246	103	1222											
PLSCR5	389158	broad.mit.edu	37	chr3	146309588	146309588	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttctttgtttgcattttgGattgtgaatttaggcagaaa	9	19	9	4	0	2	2	0	1	2	1	2	3	2	3	0	2	1	3	0	2	3	8			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:146309588G>T	ENST00000443512.1	-	5	1537	c.534C>A	c.(532-534)atC>atA	p.I178I	PLSCR5_ENST00000482567.1_Silent_p.I166I|PLSCR5_ENST00000492200.1_Silent_p.I178I	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	178										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TTGCATTTTGGATTGTGAATT	0.388													61	26					2.22609e-26	2.84396e-26	1	0	T	146309588	G	T	146309588	2	4	5	1	0	0	0	0	0	0	0	1	12185	1164	41	2		2	PLSCR5	3	146309588	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	16121404	146309588	51712842	104	1223											
ZIC1	7545	broad.mit.edu	37	chr3	147128064	147128064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaccccagttcgcacgaGctggcttcggccggccagac	7	6	11	17	4	1	1	1	0	0	1	3	2	1	1	4	3	2	4	4	3	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:147128064G>C	ENST00000282928.4	+	1	894	c.165G>C	c.(163-165)gaG>gaC	p.E55D		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	55					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E55D(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GTTCGCACGAGCTGGCTTCGG	0.711													89	50					0	0	0	0	C	147128064	G	C	147128064	3	2	5	1	0	0	0	0	1	0	0	0	17773	962	34	4	167	4	ZIC1	3	147128064	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	818476	147128064	50894366	105	1224											
FAM194A	131831	broad.mit.edu	37	chr3	150400034	150400034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttcagaggaaacatccaCattagaaaaaaatgctctta	17	10	7	7	0	2	2	1	0	1	2	3	3	3	3	1	2	2	2	1	2	6	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:150400034C>A	ENST00000295910.6	-	7	905	c.853G>T	c.(853-855)Gtg>Ttg	p.V285L	FAM194A_ENST00000491361.1_Missense_Mutation_p.V139L	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	285										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAAACATCCACATTAGAAAAA	0.358													88	123					2.01383e-38	2.83509e-38	1	0	A	150400034	C	A	150400034	3	1	5	1	0	0	0	0	1	0	0	0	5569	478	17	4	1170	4	FAM194A	3	150400034	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	3271970	150400034	47622396	106	1225											
MED12L	116931	broad.mit.edu	37	chr3	151129183	151129183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccagagcctatccggccGcacattccaaccccgtgcta	9	7	7	18	3	0	1	0	0	0	1	3	1	3	1	7	1	3	2	7	1	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:151129183G>A	ENST00000474524.1	+	39	5961	c.5923G>A	c.(5923-5925)Gca>Aca	p.A1975T	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1975	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTATCCGGCCGCACATTCCAA	0.572													6	393					0	0	0	0	A	151129183	G	A	151129183	3	1	5	1	0	0	0	0	1	0	0	0	9498	1087	38	1	6077	1	MED12L	3	151129183	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	729149	151129183	46893247	107	1226											
GPR149	344758	broad.mit.edu	37	chr3	154146445	154146445	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgggcagccaaaggacGacttttgtaagcgctaggat	12	9	12	8	2	1	0	1	0	0	0	1	3	1	2	1	3	2	3	1	3	3	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:154146445G>T	ENST00000389740.2	-	1	1059	c.960C>A	c.(958-960)gtC>gtA	p.V320V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	320						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCCAAAGGACGACTTTTGTAA	0.567													229	311					4.76836e-124	7.42126e-124	1	0	T	154146445	G	T	154146445	2	4	5	1	0	0	0	0	0	0	0	1	6703	1045	37	3		3	GPR149	3	154146445	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3017262	154146445	43875985	108	1227											
SI	6476	broad.mit.edu	37	chr3	164786619	164786619	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtttaatttggcttcaactCcttaaagaataaaaaaaagc	17	13	5	6	0	1	1	1	0	0	1	2	1	2	1	1	1	2	2	1	1	9	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:164786619C>G	ENST00000264382.3	-	5	436	c.373_splice	c.e5-1	p.G125_splice		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	125	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGCTTCAACTCCTTAAAGAAT	0.303										HNSCC(35;0.089)			5	253					0	0	0	0	G	164786619	C	G	164786619	5	3	5	1	0	0	0	0	0	0	1	0	14385	869	30	2	5285	2	SI	3	164786619	Splice_Site	SNP	C	TCGA-BA-4078-01A-01D-1434-08	10640174	164786619	33235811	109	1228											
PDCD10	11235	broad.mit.edu	37	chr3	167437849	167437849	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacatgtttacccaactcaCctcattaaacacaggataca	16	9	4	12	0	2	0	2	0	0	0	2	2	2	1	2	1	5	1	2	1	6	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:167437849C>T	ENST00000392750.2	-	3	514		c.e3+1		PDCD10_ENST00000473645.2_Splice_Site|PDCD10_ENST00000487947.2_Splice_Site|PDCD10_ENST00000470131.1_Splice_Site|PDCD10_ENST00000461494.1_Splice_Site|PDCD10_ENST00000471885.1_Splice_Site|PDCD10_ENST00000497056.2_Splice_Site|PDCD10_ENST00000492396.1_Intron	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10						angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						ACCCAACTCACCTCATTAAAC	0.378													57	208					0	0	0	0	T	167437849	C	T	167437849	5	4	5	1	0	0	0	0	0	0	1	0	11687	521	18	4	569	4	PDCD10	3	167437849	Splice_Site	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2651230	167437849	30584581	110	1229											
USP13	8975	broad.mit.edu	37	chr3	179472519	179472519	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatctctctcattttgcaGatgtttctattgatatgcca	10	18	5	8	0	3	2	1	1	3	1	5	2	3	2	1	0	2	2	1	0	3	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:179472519G>T	ENST00000263966.3	+	15	2269		c.e15-1		USP13_ENST00000496897.1_Splice_Site|USP13_ENST00000482333.1_Intron	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)						ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TCATTTTGCAGATGTTTCTAT	0.448													89	293					1.54307e-61	2.35636e-61	1	0	T	179472519	G	T	179472519	5	4	5	1	0	0	0	0	0	0	1	0	17140	956	33	2	1856	2	USP13	3	179472519	Splice_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	12034670	179472519	18549911	111	1230											
VPS8	23355	broad.mit.edu	37	chr3	184675175	184675175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttagggaaggtattcatGtaaatcaagaattactgcaa	15	14	8	4	0	2	1	2	0	0	1	2	2	2	2	0	2	2	3	0	2	9	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:184675175G>T	ENST00000437079.3	+	37	3220	c.3049G>T	c.(3049-3051)Gta>Tta	p.V1017L	VPS8_ENST00000446204.2_Missense_Mutation_p.V925L|VPS8_ENST00000436792.2_Missense_Mutation_p.V1015L|VPS8_ENST00000287546.4_Missense_Mutation_p.V1017L	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1017							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGGTATTCATGTAAATCAAGA	0.333													9	60					3.09899e-07	3.31341e-07	1	0	T	184675175	G	T	184675175	3	4	5	1	0	0	0	0	1	0	0	0	17314	1377	48	4	3187	4	VPS8	3	184675175	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	5202656	184675175	13347255	112	1231											
CCDC50	152137	broad.mit.edu	37	chr3	191078925	191078925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattgaggcagagagacgaCgcattcaggagaagaaggat	15	6	14	6	2	1	5	1	1	0	4	1	9	1	6	0	3	0	2	0	3	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:191078925C>T	ENST00000392455.3	+	4	905	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	CCDC50_ENST00000392456.3_Missense_Mutation_p.R103C	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	103						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGAGAGACGACGCATTCAGGA	0.433													31	171					0	0	0	0	T	191078925	C	T	191078925	3	4	5	1	0	0	0	0	1	0	0	0	2847	536	19	1	321	1	CCDC50	3	191078925	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	6403750	191078925	6943505	113	1232											
CPN2	1370	broad.mit.edu	37	chr3	194063363	194063363	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaagcagtcacaacccatGggacagggctgggcaggcct	11	4	14	12	1	1	0	1	0	0	0	1	2	1	1	2	4	2	3	2	4	2	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:194063363G>T	ENST00000323830.3	-	2	158	c.69C>A	c.(67-69)ccC>ccA	p.P23P	CPN2_ENST00000429275.1_Silent_p.P23P	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	23	LRRNT.				protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CACAACCCATGGGACAGGGCT	0.582													237	88					6.35764e-115	9.87107e-115	1	0	T	194063363	G	T	194063363	2	4	5	1	0	0	0	0	0	0	0	1	3840	1335	47	4		4	CPN2	3	194063363	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2984438	194063363	3959067	114	1233											
UBXN7	26043	broad.mit.edu	37	chr3	196098827	196098827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgttgctccacacatcGcggttgaggcactgacatgc	7	10	11	13	3	0	2	0	2	0	0	3	2	1	2	1	2	2	5	1	2	0	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:196098827G>A	ENST00000296328.4	-	6	629	c.555C>T	c.(553-555)cgC>cgT	p.R185R	UBXN7_ENST00000535858.1_Silent_p.R37R|UBXN7_ENST00000428095.1_Silent_p.R23R	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	185							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TCCACACATCGCGGTTGAGGC	0.413													91	333					0	0	0	0	A	196098827	G	A	196098827	2	1	5	1	0	0	0	0	0	0	0	1	17014	1074	38	1		1	UBXN7	3	196098827	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2035464	196098827	1923603	115	1234											
SLIT2	9353	broad.mit.edu	37	chr4	20543121	20543121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtaactgctacctggcttgGttgggagagtggctgagaaa	9	11	15	6	0	0	2	0	1	0	2	0	4	0	2	1	4	3	5	1	4	3	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:20543121G>T	ENST00000504154.1	+	20	2274	c.2022G>T	c.(2020-2022)tgG>tgT	p.W674C	SLIT2_ENST00000503837.1_Missense_Mutation_p.W670C|SLIT2_ENST00000503823.1_Missense_Mutation_p.W666C|SLIT2_ENST00000273739.5_Missense_Mutation_p.W678C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	674	LRRCT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACCTGGCTTGGTTGGGAGAGT	0.458													46	11					1.10885e-35	1.53115e-35	1	0	T	20543121	G	T	20543121	3	4	5	1	0	0	0	0	1	0	0	0	14828	1270	44	4	2100	4	SLIT2	4	20543121	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08		20543121	170611155	116	1235											
SLIT2	9353	broad.mit.edu	37	chr4	20555507	20555507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaagtcggaatataaggagCctggaattgctcgttgtgct	10	12	13	6	2	0	1	0	1	0	0	2	4	0	4	1	3	3	3	1	3	5	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:20555507C>T	ENST00000504154.1	+	26	2893	c.2641C>T	c.(2641-2643)Cct>Tct	p.P881S	SLIT2_ENST00000503837.1_Missense_Mutation_p.P877S|SLIT2_ENST00000503823.1_Missense_Mutation_p.P873S|SLIT2_ENST00000273739.5_Missense_Mutation_p.P885S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	881	LRRCT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATATAAGGAGCCTGGAATTGC	0.428													98	12					0	0	0	0	T	20555507	C	T	20555507	3	4	5	1	0	0	0	0	1	0	0	0	14828	739	26	4	2743	4	SLIT2	4	20555507	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	12386	20555507	170598769	117	1236											
GABRA2	2555	broad.mit.edu	37	chr4	46252334	46252334	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtctcaattcaaggactGacccctaatacaggttctct	10	12	8	11	0	3	1	2	1	2	0	5	2	3	2	2	3	1	1	2	3	4	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:46252334G>A	ENST00000510861.1	-	10	1520	c.1347C>T	c.(1345-1347)gtC>gtT	p.V449V	GABRA2_ENST00000356504.1_Silent_p.V449V|GABRA2_ENST00000507069.1_Silent_p.V509V|GABRA2_ENST00000381620.4_Silent_p.V449V|GABRA2_ENST00000540012.1_Silent_p.V454V|GABRA2_ENST00000514090.1_Silent_p.V449V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	449					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V449V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCAAGGACTGACCCCTAATA	0.338													70	23					0	0	0	0	A	46252334	G	A	46252334	2	1	5	1	0	0	0	0	0	0	0	1	6209	1277	45	2		2	GABRA2	4	46252334	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	25696827	46252334	144901942	118	1237											
GABRA4	2557	broad.mit.edu	37	chr4	46930523	46930523	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctttcgaggcatatatcCagttcggatagaagtaggag	12	10	12	7	2	0	1	0	0	0	1	3	4	1	3	2	3	1	3	2	3	5	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:46930523C>G	ENST00000264318.3	-	9	2366	c.1384G>C	c.(1384-1386)Gga>Cga	p.G462R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	462					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCATATATCCAGTTCGGATA	0.473													68	18					0	0	0	0	G	46930523	C	G	46930523	3	3	5	1	0	0	0	0	1	0	0	0	6211	603	21	4	284	4	GABRA4	4	46930523	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	678189	46930523	144223753	119	1238											
UGT2B7	7364	broad.mit.edu	37	chr4	69978432	69978432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaagtttgctagaaaagCaaagaagggaaaaaatgatt	19	8	11	3	0	0	3	0	1	0	2	0	5	0	5	0	2	2	3	0	2	9	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:69978432C>A	ENST00000305231.7	+	6	1614	c.1568C>A	c.(1567-1569)gCa>gAa	p.A523E	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	523					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTAGAAAAGCAAAGAAGGGA	0.378													48	25					1.67211e-32	2.23292e-32	1	0	A	69978432	C	A	69978432	3	1	5	1	0	0	0	0	1	0	0	0	17058	710	25	4	1590	4	UGT2B7	4	69978432	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	23047909	69978432	121175844	120	1239											
UGT2B4	7363	broad.mit.edu	37	chr4	70352383	70352383	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtattgagtcctaaagtaTctggtttattcccatcaaat	12	15	7	7	0	2	1	1	1	1	0	4	2	4	1	2	1	0	3	2	1	6	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:70352383T>A	ENST00000305107.6	-	4	1080	c.1034A>T	c.(1033-1035)gAt>gTt	p.D345V	UGT2B4_ENST00000512583.1_Missense_Mutation_p.D345V|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.D209V	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	345					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TCCTAAAGTATCTGGTTTATT	0.348													102	40					0	0	0	0	A	70352383	T	A	70352383	3	1	5	1	0	0	0	0	1	0	0	0	17057	1435	50	5	564	5	UGT2B4	4	70352383	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	373951	70352383	120801893	121	1240											
KIAA1109	84162	broad.mit.edu	37	chr4	123207877	123207877	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcggatcaggtgtggagtatAgatgaactgccttctaaaca	12	11	11	7	1	2	2	1	1	1	1	3	4	2	4	1	3	3	1	1	3	5	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:123207877A>G	ENST00000264501.4	+	53	9592	c.9219A>G	c.(9217-9219)atA>atG	p.I3073M	KIAA1109_ENST00000455637.1_Missense_Mutation_p.I3073M|KIAA1109_ENST00000388738.3_Missense_Mutation_p.I3073M			Q2LD37	K1109_HUMAN	KIAA1109	3073					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGTGGAGTATAGATGAACTGC	0.378													66	23					0	0	0	0	G	123207877	A	G	123207877	3	3	5	1	0	0	0	0	1	0	0	0	8259	410	15	5	9421	5	KIAA1109	4	123207877	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	52855494	123207877	67946399	122	1241											
SPATA5	166378	broad.mit.edu	37	chr4	123868598	123868598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagctggcaaatagtgctCatggatacgttggagcagac	11	9	13	8	1	1	1	1	0	0	1	1	3	1	3	0	3	5	6	0	3	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:123868598C>T	ENST00000274008.3	+	9	1738	c.1669C>T	c.(1669-1671)Cat>Tat	p.H557Y	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	557					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AAATAGTGCTCATGGATACGT	0.478													70	26					0	0	0	0	T	123868598	C	T	123868598	3	4	5	1	0	0	0	0	1	0	0	0	15101	826	29	2	1703	2	SPATA5	4	123868598	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	660721	123868598	67285678	123	1242											
FGA	2243	broad.mit.edu	37	chr4	155507095	155507095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagacaatgtgcctaaatCcattgcctcgggacagtcag	11	8	10	12	1	1	1	1	0	0	1	3	2	2	2	4	1	2	0	4	1	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:155507095C>A	ENST00000302053.3	-	5	1564	c.1486G>T	c.(1486-1488)Gat>Tat	p.D496Y	FGA_ENST00000403106.3_Missense_Mutation_p.D496Y	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	496					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTGCCTAAATCCATTGCCTCG	0.473													87	33					9.37156e-40	1.32509e-39	1	0	A	155507095	C	A	155507095	3	1	5	1	0	0	0	0	1	0	0	0	5875	855	30	2	1166	2	FGA	4	155507095	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	31638497	155507095	35647181	124	1243											
GUCY1A3	2982	broad.mit.edu	37	chr4	156632328	156632328	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcaaccagacgtttagcggGatcatgactatgttgaatat	13	12	9	7	2	2	3	2	2	0	1	2	4	2	4	1	1	2	2	1	1	5	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:156632328G>T	ENST00000296518.7	+	6	1220	c.1011G>T	c.(1009-1011)ggG>ggT	p.G337G	GUCY1A3_ENST00000511507.1_Silent_p.G337G|GUCY1A3_ENST00000506455.1_Silent_p.G337G|GUCY1A3_ENST00000455639.2_Silent_p.G337G|GUCY1A3_ENST00000393832.3_Silent_p.G79G|GUCY1A3_ENST00000511108.1_Silent_p.G337G|GUCY1A3_ENST00000513574.1_Silent_p.G337G			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	337					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CGTTTAGCGGGATCATGACTA	0.383													73	30					2.93416e-43	4.23171e-43	1	0	T	156632328	G	T	156632328	2	4	5	1	0	0	0	0	0	0	0	1	6944	1161	41	2		2	GUCY1A3	4	156632328	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1125233	156632328	34521948	125	1244											
GRIA2	2891	broad.mit.edu	37	chr4	158262467	158262467	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtggttctttaccctgatCataatctcctcctacacggc	7	14	7	13	1	3	1	1	1	2	0	5	1	4	1	3	3	2	1	3	3	3	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:158262467C>T	ENST00000296526.7	+	12	2221	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	GRIA2_ENST00000507898.1_Silent_p.I585I|GRIA2_ENST00000264426.9_Silent_p.I632I|GRIA2_ENST00000449365.1_Silent_p.I585I|GRIA2_ENST00000393815.2_Silent_p.I585I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	632					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TTACCCTGATCATAATCTCCT	0.433													154	58					0	0	0	0	T	158262467	C	T	158262467	2	4	5	1	0	0	0	0	0	0	0	1	6818	816	29	2		2	GRIA2	4	158262467	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	1630139	158262467	32891809	126	1245											
ADAM29	11086	broad.mit.edu	37	chr4	175896743	175896743	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctggacacatccaggatGagcacccccaatatcacagc	12	7	8	14	0	2	1	1	1	1	0	3	3	3	3	3	2	2	2	3	2	2	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:175896743G>T	ENST00000359240.3	+	5	737	c.67G>T	c.(67-69)Gag>Tag	p.E23*	ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E23*|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E23*|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E23*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	23					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CATCCAGGATGAGCACCCCCA	0.498													63	20					7.55815e-43	1.08523e-42	1	0	T	175896743	G	T	175896743	4	4	5	1	0	0	0	0	0	1	0	0	247	1291	45	2	69	2	ADAM29	4	175896743	Nonsense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	17634276	175896743	15257533	127	1246											
FAT1	2195	broad.mit.edu	37	chr4	187630465	187630465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctatgtctgcatccgtggCgctgactcttgcgatactgg	5	13	11	12	3	2	1	0	1	2	0	4	2	4	1	2	2	3	2	2	2	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:187630465C>G	ENST00000441802.2	-	2	726	c.517G>C	c.(517-519)Gcc>Ccc	p.A173P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	173	Cadherin 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCATCCGTGGCGCTGACTCTT	0.438										HNSCC(5;0.00058)			137	35					0	0	0	0	G	187630465	C	G	187630465	3	3	5	1	0	0	0	0	1	0	0	0	5734	768	27	3	13353	3	FAT1	4	187630465	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	11733722	187630465	3523811	128	1247											
ZFP42	132625	broad.mit.edu	37	chr4	188924029	188924029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtggaagagcccccaGtggggctaagcccaggcaag	9	4	16	12	0	0	1	0	0	0	1	0	2	0	2	4	5	2	2	4	5	3	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:188924029G>T	ENST00000326866.4	+	4	476	c.68G>T	c.(67-69)aGt>aTt	p.S23I	ZFP42_ENST00000509524.1_Missense_Mutation_p.S23I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	23					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAGCCCCCAGTGGGGCTAAG	0.547													50	15					3.21987e-24	4.05766e-24	1	0	T	188924029	G	T	188924029	3	4	5	1	0	0	0	0	1	0	0	0	17745	1029	36	4	70	4	ZFP42	4	188924029	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1293564	188924029	2230247	129	1248											
C5orf38	153571	broad.mit.edu	37	chr5	2755285	2755285	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggccgactgagaaggccggGgcgctcgccgggcgcggcgc	4	2	20	15	9	0	1	0	1	0	1	1	3	0	1	3	6	0	1	3	6	1	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:2755285G>C	ENST00000397835.4	+	3	476	c.476G>C	c.(475-477)gGg>gCg	p.G159A	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	45						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		AGAAggccggggcgctcgccg	0.796													15	27					0	0	0	0	C	2755285	G	C	2755285	3	2	5	1	0	0	0	0	1	0	0	0	2317	1247	43	4		4	C5orf38	5	2755285	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08		2755285	178159975	130	1249											
SEMA5A	9037	broad.mit.edu	37	chr5	9052125	9052125	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactcagaccagtccgacCactccgaccagctctctgca	10	6	6	19	2	2	1	1	0	1	1	5	3	4	1	5	0	2	2	5	0	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:9052125C>T	ENST00000382496.5	-	20	3370	c.2705G>A	c.(2704-2706)tGg>tAg	p.W902*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	902	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCAGTCCGACCACTCCGACCA	0.587													16	46					0	0	0	0	T	9052125	C	T	9052125	4	4	5	1	0	0	0	0	0	1	0	0	14124	595	21	4	535	4	SEMA5A	5	9052125	Nonsense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	6296840	9052125	171863135	131	1250											
CTNND2	1501	broad.mit.edu	37	chr5	11346684	11346684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcattctgtgggccGtgctggctgcctgtgcgctg	1	10	18	12	4	1	0	0	0	1	0	1	0	1	0	2	4	3	4	2	4	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:11346684G>T	ENST00000304623.8	-	9	1617	c.1428C>A	c.(1426-1428)caC>caA	p.H476Q	CTNND2_ENST00000359640.2_Missense_Mutation_p.H476Q|CTNND2_ENST00000511377.1_Missense_Mutation_p.H385Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.H43Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.H139Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	476					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTGTGGGCCGTGCTGGCTGC	0.617													46	98					3.68427e-32	4.89977e-32	1	0	T	11346684	G	T	11346684	3	4	5	1	0	0	0	0	1	0	0	0	4052	1136	40	3	2305	3	CTNND2	5	11346684	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2294559	11346684	169568576	132	1251											
DNAH5	1767	broad.mit.edu	37	chr5	13752361	13752361	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagaaaggctgtcttccAggtggtttctgaagtacttg	10	12	12	7	0	2	2	0	1	2	1	3	3	3	2	1	3	1	3	1	3	4	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:13752361A>G	ENST00000265104.4	-	64	11014	c.10910T>C	c.(10909-10911)cTg>cCg	p.L3637P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3637	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTGTCTTCCAGGTGGTTTCT	0.403									Kartagener syndrome				69	147					0	0	0	0	G	13752361	A	G	13752361	3	3	5	1	0	0	0	0	1	0	0	0	4641	188	7	5	3028	5	DNAH5	5	13752361	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	2405677	13752361	167162899	133	1252											
DNAH5	1767	broad.mit.edu	37	chr5	13841950	13841950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattgccctctgccatgaCaggtttatccaattcaatcg	10	12	6	13	1	2	1	1	1	1	0	4	1	3	1	3	1	2	1	3	1	3	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:13841950C>G	ENST00000265104.4	-	33	5439	c.5335G>C	c.(5335-5337)Gtc>Ctc	p.V1779L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1779	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTGCCATGACAGGTTTATCC	0.383									Kartagener syndrome				49	183					0	0	0	0	G	13841950	C	G	13841950	3	3	5	1	0	0	0	0	1	0	0	0	4641	478	17	4	8727	4	DNAH5	5	13841950	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	89589	13841950	167073310	134	1253											
DNAH5	1767	broad.mit.edu	37	chr5	13894843	13894843	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccaggttggagagcttCatccactttggccaagtgag	10	9	12	10	0	1	2	1	1	0	1	2	3	2	2	3	3	2	2	3	3	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:13894843C>A	ENST00000265104.4	-	16	2451	c.2347G>T	c.(2347-2349)Gaa>Taa	p.E783*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	783	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGAGAGCTTCATCCACTTTG	0.423									Kartagener syndrome				98	209					9.47431e-33	1.2678e-32	1	0	A	13894843	C	A	13894843	4	1	5	1	0	0	0	0	0	1	0	0	4641	835	29	2	11783	2	DNAH5	5	13894843	Nonsense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	52893	13894843	167020417	135	1254											
FBXL7	23194	broad.mit.edu	37	chr5	15936859	15936859	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcctgcgggagatcgccaAgctggagtcccgcctgcggt	5	6	16	14	5	0	1	0	0	0	1	2	3	1	2	4	4	3	1	4	4	1	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:15936859A>T	ENST00000504595.1	+	4	1521	c.1040A>T	c.(1039-1041)aAg>aTg	p.K347M	FBXL7_ENST00000510662.1_Missense_Mutation_p.K300M|FBXL7_ENST00000329673.7_Missense_Mutation_p.K335M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	347					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GAGATCGCCAAGCTGGAGTCC	0.657													22	12					0	0	0	0	T	15936859	A	T	15936859	3	4	5	1	0	0	0	0	1	0	0	0	5769	72	3	5	1054	5	FBXL7	5	15936859	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	2042016	15936859	164978401	136	1255											
PRDM9	56979	broad.mit.edu	37	chr5	23526959	23526959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgcagggagtgtgggcggGgctttagctggcagtcagtc	5	10	18	8	1	2	0	1	0	1	0	3	1	2	1	0	5	2	4	0	5	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:23526959G>C	ENST00000296682.3	+	11	1944	c.1762G>C	c.(1762-1764)Ggc>Cgc	p.G588R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	588					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTGTGGGCGGGGCTTTAGCTG	0.607										HNSCC(3;0.000094)			46	157					0	0	0	0	C	23526959	G	C	23526959	3	2	5	1	0	0	0	0	1	0	0	0	12543	1232	43	4	1800	4	PRDM9	5	23526959	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	7590100	23526959	157388301	137	1256											
CDH10	1008	broad.mit.edu	37	chr5	24505268	24505268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccactgagatagttcaCggtcaagaggttttgatgta	11	13	11	6	1	2	3	2	2	0	2	2	4	2	3	1	2	1	3	1	2	4	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:24505268C>A	ENST00000264463.4	-	8	1853	c.1346G>T	c.(1345-1347)cGt>cTt	p.R449L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	449	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R449L(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGATAGTTCACGGTCAAGAGG	0.328										HNSCC(23;0.051)			31	105					4.02929e-09	4.35835e-09	1	0	A	24505268	C	A	24505268	3	1	5	1	0	0	0	0	1	0	0	0	3125	536	19	3	1040	3	CDH10	5	24505268	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	978309	24505268	156409992	138	1257											
PDZD2	23037	broad.mit.edu	37	chr5	31983279	31983279	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttacctggctgagcagtgCtggaatggcggctttatcta	8	12	13	8	1	1	1	0	1	1	0	1	2	1	2	1	4	3	5	1	4	4	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:31983279C>T	ENST00000438447.1	+	3	883	c.495C>T	c.(493-495)tgC>tgT	p.C165C	PDZD2_ENST00000282493.3_Silent_p.C165C			O15018	PDZD2_HUMAN	PDZ domain containing 2	165	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGAGCAGTGCTGGAATGGCG	0.527													49	151					0	0	0	0	T	31983279	C	T	31983279	2	4	5	1	0	0	0	0	0	0	0	1	11772	805	28	4		4	PDZD2	5	31983279	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	7478011	31983279	148931981	139	1258											
ZFR	51663	broad.mit.edu	37	chr5	32420208	32420208	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacccgaagctggctgctgGctacattgtggagtacaaga	11	8	12	10	1	0	1	0	0	0	1	0	3	0	2	1	3	4	5	1	3	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:32420208G>T	ENST00000265069.8	-	3	240	c.137_splice	c.e3-1	p.S46_splice		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	46	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTGGCTGCTGGCTACATTGTG	0.398													10	33					2.17888e-05	2.27346e-05	1	0	T	32420208	G	T	32420208	5	4	5	1	0	0	0	0	0	0	1	0	17754	1217	42	4	3158	4	ZFR	5	32420208	Splice_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	436929	32420208	148495052	140	1259											
ADAMTS12	81792	broad.mit.edu	37	chr5	33588885	33588885	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggggcccgcatgtcgccGagcatgcttcccactcccct	4	8	11	18	4	0	0	0	0	0	0	3	1	2	0	5	2	2	3	5	2	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:33588885G>T	ENST00000504830.1	-	18	3019	c.2684C>A	c.(2683-2685)tCg>tAg	p.S895*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.S810*|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	895	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCATGTCGCCGAGCATGCTTC	0.582										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	115					5.34276e-22	6.49335e-22	1	0	T	33588885	G	T	33588885	4	4	5	1	0	0	0	0	0	1	0	0	257	1059	37	3	2128	3	ADAMTS12	5	33588885	Nonsense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1168677	33588885	147326375	141	1260											
NIPBL	25836	broad.mit.edu	37	chr5	37064663	37064663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacgaaattcagactctaCggagttggcagcacagatga	16	7	10	8	2	2	3	1	1	1	2	2	5	2	4	0	2	3	3	0	2	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:37064663C>T	ENST00000282516.8	+	47	8583	c.8084C>T	c.(8083-8085)aCg>aTg	p.T2695M		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2695					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCAGACTCTACGGAGTTGGCA	0.393													107	240					0	0	0	0	T	37064663	C	T	37064663	3	4	5	1	0	0	0	0	1	0	0	0	10498	536	19	1	8311	1	NIPBL	5	37064663	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	3475778	37064663	143850597	142	1261											
C5orf34	375444	broad.mit.edu	37	chr5	43502545	43502545	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccccttctgatttgaaaaCagatccatccccagaataaa	15	9	5	12	0	1	4	0	2	1	2	3	4	3	4	5	0	2	0	5	0	5	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:43502545C>A	ENST00000306862.2	-	6	1456	c.1081G>T	c.(1081-1083)Gtt>Ttt	p.V361F	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	361										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GATTTGAAAACAGATCCATCC	0.308													74	204					1.74474e-33	2.34925e-33	1	0	A	43502545	C	A	43502545	3	1	5	1	0	0	0	0	1	0	0	0	2314	478	17	4	867	4	C5orf34	5	43502545	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	6437882	43502545	137412715	143	1262											
PARP8	79668	broad.mit.edu	37	chr5	50128662	50128662	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaggacgagccagcttcaAgcagtaaaagcagcaataca	17	4	9	11	1	1	0	1	0	0	0	1	2	1	1	2	1	6	5	2	1	6	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:50128662A>G	ENST00000281631.5	+	23	2439	c.2281A>G	c.(2281-2283)Agc>Ggc	p.S761G	PARP8_ENST00000514067.2_Missense_Mutation_p.S719G|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.S719G|PARP8_ENST00000514342.2_Missense_Mutation_p.S472G|PARP8_ENST00000505697.2_Missense_Mutation_p.S761G|PARP8_ENST00000505554.1_Missense_Mutation_p.S740G	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	761	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCCAGCTTCAAGCAGTAAAAG	0.438													30	8					0	0	0	0	G	50128662	A	G	50128662	3	3	5	1	0	0	0	0	1	0	0	0	11536	72	3	5	2371	5	PARP8	5	50128662	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	6626117	50128662	130786598	144	1263											
GPR98	84059	broad.mit.edu	37	chr5	89938711	89938711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccacatcatccgatcaagGgggtcccttgttaagcagtt	9	11	9	12	1	2	0	2	0	0	0	5	1	5	0	3	2	1	3	3	2	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:89938711G>T	ENST00000405460.2	+	13	2502	c.2406G>T	c.(2404-2406)agG>agT	p.R802S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	802					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCGATCAAGGGGGTCCCTTG	0.403													92	25					1.04318e-46	1.54219e-46	1	0	T	89938711	G	T	89938711	3	4	5	1	0	0	0	0	1	0	0	0	6771	1223	43	4	2456	4	GPR98	5	89938711	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	39810049	89938711	90976549	145	1264											
CHSY3	337876	broad.mit.edu	37	chr5	129520379	129520379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgccaagagcagaggacGgctcattgacttcaaggaaa	15	6	12	8	1	2	3	2	1	0	2	2	6	2	5	1	3	2	2	1	3	4	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:129520379G>T	ENST00000305031.4	+	3	1902	c.1544G>T	c.(1543-1545)cGg>cTg	p.R515L		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	515						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGCAGAGGACGGCTCATTGAC	0.468													36	12					1.58521e-26	2.02919e-26	1	0	T	129520379	G	T	129520379	3	4	5	1	0	0	0	0	1	0	0	0	3442	1116	39	3	1554	3	CHSY3	5	129520379	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	39581668	129520379	51394881	146	1265											
TCF7	6932	broad.mit.edu	37	chr5	133481891	133481891	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcaccctctgtttacaGataactctcttcactattcc	10	15	3	13	0	4	1	2	0	2	1	6	2	5	1	2	0	2	1	2	0	4	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:133481891G>T	ENST00000378560.4	+	10	900		c.e10-1		TCF7_ENST00000395029.1_Intron|TCF7_ENST00000520958.1_Intron|TCF7_ENST00000395023.1_Intron|TCF7_ENST00000321603.6_Splice_Site|TCF7_ENST00000432532.2_Intron|TCF7_ENST00000342854.5_Intron	NM_201634.3	NP_963965.1	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)						cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGTTTACAGATAACTCTCT	0.502											OREG0016787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97	33					1.63549e-45	2.39601e-45	1	0	T	133481891	G	T	133481891	5	4	5	1	0	0	0	0	0	0	1	0	15790	956	33	2	1274	2	TCF7	5	133481891	Splice_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3961512	133481891	47433369	147	1266											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723683	140723683	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gacgctgtgcgaaacaggatCcggtcagatccgctactcgg	9	7	13	12	5	1	1	1	0	0	1	4	4	3	2	2	3	3	2	2	3	2	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:140723683C>G	ENST00000253812.6	+	1	83	c.83C>G	c.(82-84)tCc>tGc	p.S28C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.S28Y(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAACAGGATCCGGTCAGATC	0.587											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	194	70					0	0	0	0	G	140723683	C	G	140723683	3	3	5	1	0	0	0	0	1	0	0	0	11626	855	30	2	85	2	PCDHGA3	5	140723683	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	7241792	140723683	40191577	148	1267											
FAT2	2196	broad.mit.edu	37	chr5	150924598	150924598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatgagtgtcctgctgctcCcggtcaaacgccacacctct	7	10	8	16	2	3	1	2	1	1	0	5	1	5	1	4	1	3	2	4	1	1	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:150924598C>T	ENST00000261800.5	-	9	6102	c.6090G>A	c.(6088-6090)cgG>cgA	p.R2030R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2030	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCTGCTCCCGGTCAAACG	0.512													96	29					0	0	0	0	T	150924598	C	T	150924598	2	4	5	1	0	0	0	0	0	0	0	1	5735	610	22	4		4	FAT2	5	150924598	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	10200915	150924598	29990662	149	1268											
SOX30	11063	broad.mit.edu	37	chr5	157078182	157078182	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttttacagaaggctccAgtagggactgcattttagta	12	13	9	7	0	0	1	0	0	0	1	1	2	1	2	1	2	2	4	1	2	6	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:157078182A>G	ENST00000265007.6	-	1	1246	c.905T>C	c.(904-906)cTg>cCg	p.L302P	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.L302P	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	302					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAAGGCTCCAGTAGGGACTG	0.532													4	166					0	0	0	0	G	157078182	A	G	157078182	3	3	5	1	0	0	0	0	1	0	0	0	15040	188	7	5	1376	5	SOX30	5	157078182	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	6153584	157078182	23837078	150	1269											
CCNJL	79616	broad.mit.edu	37	chr5	159680601	159680601	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagagcaggctccctgaacgGtgggcctgcaaggagtcccg	8	5	16	12	2	0	2	0	1	0	1	2	4	2	3	3	4	3	3	3	4	2	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:159680601G>A	ENST00000393977.3	-	7	1377	c.1092C>T	c.(1090-1092)caC>caT	p.H364H	CCNJL_ENST00000257536.7_Silent_p.H316H|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	364						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCCTGAACGGTGGGCCTGCA	0.662													51	18					0	0	0	0	A	159680601	G	A	159680601	2	1	5	1	0	0	0	0	0	0	0	1	2958	1252	44	4		4	CCNJL	5	159680601	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2602419	159680601	21234659	151	1270											
ATP10B	23120	broad.mit.edu	37	chr5	160115002	160115002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggagagagcagcggtgtgGtttccgatggacaatggggg	8	8	19	6	2	0	1	0	0	0	1	1	5	1	3	1	6	2	2	1	6	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:160115002G>A	ENST00000327245.5	-	5	926	c.80C>T	c.(79-81)aCc>aTc	p.T27I	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	27					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCGGTGTGGTTTCCGATGG	0.547													63	29					0	0	0	0	A	160115002	G	A	160115002	3	1	5	1	0	0	0	0	1	0	0	0	1121	1261	44	4	4393	4	ATP10B	5	160115002	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	434401	160115002	20800258	152	1271											
RNF44	22838	broad.mit.edu	37	chr5	175956289	175956289	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacctgggcagtgttacCttcaaccacttgtcaacaca	11	9	8	13	0	2	1	2	0	0	1	2	1	2	1	3	1	3	3	3	1	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:175956289C>A	ENST00000274811.4	-	10	1760	c.1236_splice	c.e10+1	p.K412_splice	RNF44_ENST00000537487.1_Splice_Site_p.K331_splice	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	412							zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGTGTTACCTTCAACCACT	0.582													43	17					1.32136e-16	1.52863e-16	1	0	A	175956289	C	A	175956289	5	1	5	1	0	0	0	0	0	0	1	0	13581	695	24	4	70	4	RNF44	5	175956289	Splice_Site	SNP	C	TCGA-BA-4078-01A-01D-1434-08	15841287	175956289	4958971	153	1272											
EXOC2	55770	broad.mit.edu	37	chr6	617752	617752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaagaatgtactgagaccgCctttcacataggccaggctg	11	8	11	11	2	1	2	1	1	0	2	1	4	1	2	3	2	1	2	3	2	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:617752C>G	ENST00000230449.4	-	6	755	c.620G>C	c.(619-621)gGc>gCc	p.G207A	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	207					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		ACTGAGACCGCCTTTCACATA	0.517													65	63					0	0	0	0	G	617752	C	G	617752	3	3	5	1	0	0	0	0	1	0	0	0	5339	739	26	4	2246	4	EXOC2	6	617752	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08		617752	170497315	154	1273											
SYCP2L	221711	broad.mit.edu	37	chr6	10899058	10899058	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctttctttttgttagaTtatttccaggagtagtagtg	7	22	8	4	0	2	1	0	0	2	1	3	2	3	2	1	1	0	3	1	1	4	10			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:10899058T>C	ENST00000283141.6	+	6	739	c.441_splice	c.e6-1	p.I148_splice	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	148						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TTTTGTTAGATTATTTCCAGG	0.289													88	31					0	0	0	0	C	10899058	T	C	10899058	5	2	5	1	0	0	0	0	0	0	1	0	15524	1507	52	5	465	5	SYCP2L	6	10899058	Splice_Site	SNP	T	TCGA-BA-4078-01A-01D-1434-08	10281306	10899058	160216009	155	1274											
LRRC16A	55604	broad.mit.edu	37	chr6	25420376	25420376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagccttccttgtaacagCgcgaatccccaccaaggtaa	11	7	8	15	3	0	0	0	0	0	0	2	2	2	0	6	1	3	2	6	1	4	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:25420376C>T	ENST00000329474.6	+	3	541	c.173C>T	c.(172-174)gCg>gTg	p.A58V	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	58					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTTGTAACAGCGCGAATCCCC	0.483													8	234					0	0	0	0	T	25420376	C	T	25420376	3	4	5	1	0	0	0	0	1	0	0	0	9035	768	27	1	183	1	LRRC16A	6	25420376	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	14521318	25420376	145694691	156	1275											
HIST1H1T	3010	broad.mit.edu	37	chr6	26107832	26107832	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctttctcccgctcctaaCagttttaggagttgtcgctc	6	14	8	13	2	1	0	0	0	1	0	5	1	2	1	3	1	2	4	3	1	2	5	rs148167379		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:26107832C>G	ENST00000338379.4	-	1	532	c.490G>C	c.(490-492)Gtt>Ctt	p.V164L		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	164					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CCGCTCCTAACAGTTTTAGGA	0.483													155	229					0	0	0	0	G	26107832	C	G	26107832	3	3	5	1	0	0	0	0	1	0	0	0	7177	478	17	4	137	4	HIST1H1T	6	26107832	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	687456	26107832	145007235	157	1276											
TRIM27	5987	broad.mit.edu	37	chr6	28876602	28876602	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttggattttctccataTctgactgcattttttctaag	8	19	5	9	0	3	1	0	1	3	0	4	2	3	2	2	1	2	1	2	1	3	9			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:28876602T>A	ENST00000377199.3	-	6	1258	c.902A>T	c.(901-903)gAt>gTt	p.D301V	TRIM27_ENST00000377194.3_Missense_Mutation_p.D301V	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	301	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TTTCTCCATATCTGACTGCAT	0.368			T	RET	papillary thyroid								24	10					0	0	0	0	A	28876602	T	A	28876602	3	1	5	1	0	0	0	0	1	0	0	0	16596	1435	50	5	651	5	TRIM27	6	28876602	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	2768770	28876602	142238465	158	1277											
ZBTB22	9278	broad.mit.edu	37	chr6	33283758	33283758	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctgggtcttggggaacCaggggtgttggcgctgggca	6	9	19	7	1	2	1	0	0	2	1	2	2	2	2	1	7	1	3	1	7	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:33283758C>A	ENST00000431845.2	-	2	1087	c.936G>T	c.(934-936)ctG>ctT	p.L312L	ZBTB22_ENST00000418724.1_Silent_p.L312L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTTGGGGAACCAGGGGTGTTG	0.567													48	104					7.77372e-23	9.62814e-23	1	0	A	33283758	C	A	33283758	2	1	5	1	0	0	0	0	0	0	0	1	17625	581	21	4		4	ZBTB22	6	33283758	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	4407156	33283758	137831309	159	1278											
ITPR3	3710	broad.mit.edu	37	chr6	33657174	33657175	+	Frame_Shift_Ins	INS	-	-	G																															gggcccacactcaacatcctINSgggtgccctcaatgtgagtg																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:33657174_33657175insG	ENST00000374316.5	+	51	7914_7915	c.6854_6855insG	c.(6853-6855)cggfs	p.R2285fs	ITPR3_ENST00000605930.1_Frame_Shift_Ins_p.R2285fs			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2285					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTCAACATCCTGGGTGCCCTCA	0.614													38	73	---	---	---	---					G	33657175	-	G	33657174	7	5	5	1	0	1	1	0	0	0	0	0	7975	1580	55	0	7052	0	ITPR3	6	33657174	Frame_Shift_Ins	INS	-	TCGA-BA-4078-01A-01D-1434-08	373416	33657174	137457893	160	1279											
DNAH8	1769	broad.mit.edu	37	chr6	38840416	38840416	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaaggcgcaaacagaatgCggaaggcctcatagagaaat	17	5	12	7	2	1	3	1	1	0	2	1	5	1	4	1	3	2	1	1	3	6	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:38840416C>T	ENST00000359357.3	+	48	6698	c.6444C>T	c.(6442-6444)tgC>tgT	p.C2148C	DNAH8_ENST00000441566.1_Silent_p.C2112C|DNAH8_ENST00000449981.2_Silent_p.C2365C					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAACAGAATGCGGAAGGCCTC	0.483													66	106					0	0	0	0	T	38840416	C	T	38840416	2	4	5	1	0	0	0	0	0	0	0	1	4643	776	27	1		1	DNAH8	6	38840416	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	5183242	38840416	132274651	161	1280											
KCNK17	89822	broad.mit.edu	37	chr6	39272355	39272355	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggttgagcaccacgaggttGagtgggatccccacaagggc	9	6	15	11	2	0	2	0	2	0	0	1	4	1	3	3	4	1	3	3	4	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:39272355G>C	ENST00000453413.2	-	3	569	c.429C>G	c.(427-429)ctC>ctG	p.L143L	KCNK17_ENST00000373231.4_Silent_p.L143L	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	143						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						CCACGAGGTTGAGTGGGATCC	0.637													91	172					0	0	0	0	C	39272355	G	C	39272355	2	2	5	1	0	0	0	0	0	0	0	1	8117	1277	45	2		2	KCNK17	6	39272355	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	431939	39272355	131842712	162	1281											
UBR2	23304	broad.mit.edu	37	chr6	42637959	42637959	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgttggggtagctgcgcGtacaccatccaaagcatagg	10	9	13	9	2	0	0	0	0	0	0	1	0	1	0	2	3	4	5	2	3	4	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:42637959G>T	ENST00000372899.1	+	35	4269	c.4011G>T	c.(4009-4011)gcG>gcT	p.A1337A	UBR2_ENST00000372901.1_Silent_p.A1337A|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1337					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GTAGCTGCGCGTACACCATCC	0.408													69	91					2.26907e-38	3.18062e-38	1	0	T	42637959	G	T	42637959	2	4	5	1	0	0	0	0	0	0	0	1	16998	1132	40	3		3	UBR2	6	42637959	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3365604	42637959	128477108	163	1282											
PKHD1	5314	broad.mit.edu	37	chr6	51890864	51890864	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggctggcagggtttcacaCcagatgctcgcctccgttaa	7	9	13	12	2	1	1	1	0	0	1	3	1	2	1	3	4	1	5	3	4	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:51890864C>T	ENST00000371117.3	-	32	4019	c.3744G>A	c.(3742-3744)tgG>tgA	p.W1248*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.W1248*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1248	IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGTTTCACACCAGATGCTCG	0.597													44	57					0	0	0	0	T	51890864	C	T	51890864	4	4	5	1	0	0	0	0	0	1	0	0	12043	508	18	4	8663	4	PKHD1	6	51890864	Nonsense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	9252905	51890864	119224203	164	1283											
GSTA3	2940	broad.mit.edu	37	chr6	52762651	52762651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggaagttggagataaggCtggagtcaagctcttccaca	12	8	14	7	0	2	1	1	0	1	1	3	5	3	3	1	4	1	3	1	4	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:52762651C>T	ENST00000211122.3	-	6	583	c.518G>A	c.(517-519)aGc>aAc	p.S173N	GSTA3_ENST00000370968.1_Missense_Mutation_p.S123N	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	173	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	GGAGATAAGGCTGGAGTCAAG	0.522													77	128					0	0	0	0	T	52762651	C	T	52762651	3	4	5	1	0	0	0	0	1	0	0	0	6882	797	28	4	158	4	GSTA3	6	52762651	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	871787	52762651	118352416	165	1284											
GFRAL	389400	broad.mit.edu	37	chr6	55216213	55216213	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acggttcttctatcaaaataTaccttttaacattgcccaga	13	14	4	10	1	3	1	1	0	2	1	3	1	3	1	2	1	3	1	2	1	6	8			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:55216213T>A	ENST00000340465.2	+	5	619	c.533T>A	c.(532-534)aTa>aAa	p.I178K		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	178						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TATCAAAATATACCTTTTAAC	0.428													164	222					0	0	0	0	A	55216213	T	A	55216213	3	1	5	1	0	0	0	0	1	0	0	0	6402	1406	49	5	551	5	GFRAL	6	55216213	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	2453562	55216213	115898854	166	1285											
HMGCLL1	54511	broad.mit.edu	37	chr6	55441888	55441888	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatttacccagtggatacaAgccaccgtgcctgccaagga	12	8	9	12	1	0	0	0	0	0	0	0	2	0	2	5	2	5	0	5	2	5	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:55441888A>C	ENST00000398661.2	-	2	317	c.186T>G	c.(184-186)gcT>gcG	p.A62A	HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000358072.5_Intron|HMGCLL1_ENST00000274901.4_Intron|HMGCLL1_ENST00000370850.2_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	62							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			agtggatacaagccaccgtgc	0.438													14	21					0	0	0	0	C	55441888	A	C	55441888	2	2	5	1	0	0	0	0	0	0	0	1	7280	59	3	5		5	HMGCLL1	6	55441888	Silent	SNP	A	TCGA-BA-4078-01A-01D-1434-08	225675	55441888	115673179	167	1286											
PHIP	55023	broad.mit.edu	37	chr6	79679576	79679576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attccatcgcctgtattttgCatcatcaaattgttgtctca	9	17	5	10	1	3	0	3	0	1	0	6	0	4	0	2	0	1	3	2	0	2	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:79679576C>A	ENST00000275034.4	-	27	3348	c.3181G>T	c.(3181-3183)Gca>Tca	p.A1061S	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1061	Mediates interaction with IRS1 (By similarity).				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTGTATTTTGCATCATCAAAT	0.308													21	37					3.10358e-05	3.2331e-05	1	0	A	79679576	C	A	79679576	3	1	5	1	0	0	0	0	1	0	0	0	11914	710	25	4	2340	4	PHIP	6	79679576	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	24237688	79679576	91435491	168	1287											
SNX14	57231	broad.mit.edu	37	chr6	86235871	86235871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacatctggtagtatcttatCaagaaattgtgtttccccac	11	15	6	9	0	3	1	1	0	2	1	4	1	4	1	2	1	1	3	2	1	6	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:86235871C>T	ENST00000314673.3	-	21	2256	c.2080G>A	c.(2080-2082)Gat>Aat	p.D694N	SNX14_ENST00000346348.3_Missense_Mutation_p.D641N|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000369627.2_Missense_Mutation_p.D685N|SNX14_ENST00000505648.1_Missense_Mutation_p.D642N	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	694					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AGTATCTTATCAAGAAATTGT	0.323													12	24					0	0	0	0	T	86235871	C	T	86235871	3	4	5	1	0	0	0	0	1	0	0	0	14973	826	29	2	796	2	SNX14	6	86235871	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	6556295	86235871	84879196	169	1288											
ZNF292	23036	broad.mit.edu	37	chr6	87928449	87928449	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccattggataaggataaaGgtaaattttcgagagacaga	18	9	10	4	1	0	2	0	0	0	2	1	6	0	4	1	3	1	1	1	3	6	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:87928449G>C	ENST00000369577.3	+	4	581	c.538_splice	c.e4+1	p.V180_splice	ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Splice_Site_p.A180_splice	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAGGATAAAGGTAAATTTTC	0.328													6	8					0	0	0	0	C	87928449	G	C	87928449	5	2	5	1	0	0	0	0	0	0	1	0	17921	1014	35	4	552	4	ZNF292	6	87928449	Splice_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1692578	87928449	83186618	170	1289											
GJA10	84694	broad.mit.edu	37	chr6	90604608	90604608	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgaggaggttagaggagCagaagaggatccataaagtc	16	6	14	5	0	0	4	0	1	0	3	2	7	1	7	1	4	2	2	1	4	5	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:90604608C>T	ENST00000369352.1	+	1	421	c.421C>T	c.(421-423)Cag>Tag	p.Q141*		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	141					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GTTAGAGGAGCAGAAGAGGAT	0.463													49	72					0	0	0	0	T	90604608	C	T	90604608	4	4	5	1	0	0	0	0	0	1	0	0	6452	711	25	4	423	4	GJA10	6	90604608	Nonsense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2676159	90604608	80510459	171	1290											
LIN28B	389421	broad.mit.edu	37	chr6	105406115	105406115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcatctccatgataaaccGagagggaagccccttggata	13	9	9	10	1	2	2	1	1	1	1	3	5	2	4	4	2	2	0	4	2	4	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:105406115G>A	ENST00000345080.4	+	2	355	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	51	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATGATAAACCGAGAGGGAAGC	0.498													99	154					0	0	0	0	A	105406115	G	A	105406115	3	1	5	1	0	0	0	0	1	0	0	0	8861	1058	37	1	158	1	LIN28B	6	105406115	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	14801507	105406115	65708952	172	1291											
DDO	8528	broad.mit.edu	37	chr6	110714170	110714170	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcacgcctggcctgtagggCctcaagcccaccttctccct	5	8	9	19	2	2	0	1	0	1	0	3	0	2	0	6	2	1	2	6	2	2	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:110714170C>T	ENST00000368924.3	-	5	933	c.918G>A	c.(916-918)agG>agA	p.R306R	DDO_ENST00000368923.3_Silent_p.R247R|DDO_ENST00000368925.1_Silent_p.R278R	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	278					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GCCTGTAGGGCCTCAAGCCCA	0.607													138	221					0	0	0	0	T	110714170	C	T	110714170	2	4	5	1	0	0	0	0	0	0	0	1	4366	738	26	4		4	DDO	6	110714170	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	5308055	110714170	60400897	173	1292											
LAMA4	3910	broad.mit.edu	37	chr6	112443312	112443312	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctattgctctagggctgttGgaaaggtggcaatgagagtt	9	13	14	5	0	2	1	0	1	2	1	2	3	2	2	0	4	1	5	0	4	4	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:112443312G>A	ENST00000230538.7	-	32	4777	c.4380C>T	c.(4378-4380)tcC>tcT	p.S1460S	LAMA4_ENST00000424408.2_Silent_p.S1453S|LAMA4_ENST00000522006.1_Silent_p.S1453S|LAMA4_ENST00000389463.4_Silent_p.S1453S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1460					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TAGGGCTGTTGGAAAGGTGGC	0.453													80	115					0	0	0	0	A	112443312	G	A	112443312	2	1	5	1	0	0	0	0	0	0	0	1	8661	1335	47	4		4	LAMA4	6	112443312	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1729142	112443312	58671755	174	1293											
FAM184A	79632	broad.mit.edu	37	chr6	119338048	119338048	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcttccaatctacttTgcaggtttttaagttccctt	6	18	4	13	0	2	0	0	0	2	0	5	0	5	0	4	1	2	3	4	1	3	8			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:119338048T>C	ENST00000338891.7	-	5	1837	c.1394A>G	c.(1393-1395)cAa>cGa	p.Q465R	FAM184A_ENST00000521531.1_Missense_Mutation_p.Q465R|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.Q345R|FAM184A_ENST00000522284.1_Missense_Mutation_p.Q345R|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q345R	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	465										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CAATCTACTTTGCAGGTTTTT	0.373													54	81					0	0	0	0	C	119338048	T	C	119338048	3	2	5	1	0	0	0	0	1	0	0	0	5553	1812	63	5	2084	5	FAM184A	6	119338048	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	6894736	119338048	51777019	175	1294											
THEMIS	387357	broad.mit.edu	37	chr6	128040968	128040968	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttatgtctacgtgatgacGctgaaatgacacaggtcaca	12	10	11	8	2	2	4	1	4	1	0	2	4	2	4	0	2	1	2	0	2	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:128040968G>T	ENST00000368250.1	-	6	2020	c.1521_splice	c.e6-1	p.R508_splice	THEMIS_ENST00000543064.1_Splice_Site_p.R626_splice|THEMIS_ENST00000368248.2_Splice_Site_p.R587_splice|THEMIS_ENST00000537166.1_Splice_Site_p.R552_splice			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	587	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACGTGATGACGCTGAAATGAC	0.368													74	81					2.51111e-31	3.32593e-31	1	0	T	128040968	G	T	128040968	5	4	5	1	0	0	0	0	0	0	1	0	15954	1101	38	3	174	3	THEMIS	6	128040968	Splice_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	8702920	128040968	43074099	176	1295											
LAMA2	3908	broad.mit.edu	37	chr6	129775417	129775417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgactcatattggtacCgtatcgtagcatcaaggtaa	12	13	9	7	2	2	2	2	2	0	0	3	2	2	2	1	2	2	5	1	2	6	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:129775417C>A	ENST00000421865.2	+	47	6740	c.6691C>A	c.(6691-6693)Cgt>Agt	p.R2231S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2231	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATATTGGTACCGTATCGTAGC	0.363													47	46					2.81731e-22	3.45639e-22	1	0	A	129775417	C	A	129775417	3	1	5	1	0	0	0	0	1	0	0	0	8659	652	23	3	6877	3	LAMA2	6	129775417	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	1734449	129775417	41339650	177	1296											
SAMD3	154075	broad.mit.edu	37	chr6	130465774	130465774	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaggaagttgaaagtttggGacagtcttcttggacactca	11	12	11	7	0	3	1	1	1	2	0	3	4	3	4	0	3	0	2	0	3	3	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:130465774G>T	ENST00000368134.2	-	14	2062	c.1454C>A	c.(1453-1455)tCc>tAc	p.S485Y	SAMD3_ENST00000457563.2_Missense_Mutation_p.S509Y|SAMD3_ENST00000439090.2_Missense_Mutation_p.S485Y|SAMD3_ENST00000437477.2_Missense_Mutation_p.S485Y	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	485										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GAAAGTTTGGGACAGTCTTCT	0.438													63	100					7.55815e-43	1.08523e-42	1	0	T	130465774	G	T	130465774	3	4	5	1	0	0	0	0	1	0	0	0	13905	1174	41	2	112	2	SAMD3	6	130465774	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	690357	130465774	40649293	178	1297											
TMEM200A	114801	broad.mit.edu	37	chr6	130762115	130762115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagcaaaggcaaatgaacgGcatgtacactggtttgatgg	13	8	14	6	1	0	2	0	2	0	0	0	3	0	3	0	5	3	5	0	5	4	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:130762115G>T	ENST00000392429.1	+	2	2926	c.548G>T	c.(547-549)gGc>gTc	p.G183V	TMEM200A_ENST00000296978.3_Missense_Mutation_p.G183V|TMEM200A_ENST00000545622.1_Missense_Mutation_p.G183V	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	183						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CAAATGAACGGCATGTACACT	0.443													49	62					4.10826e-27	5.2902e-27	1	0	T	130762115	G	T	130762115	3	4	5	1	0	0	0	0	1	0	0	0	16217	1203	42	4	550	4	TMEM200A	6	130762115	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	296341	130762115	40352952	179	1298											
TXLNB	167838	broad.mit.edu	37	chr6	139576740	139576740	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgctccttcagcactttCgcctgaagtttccactctgc	5	15	6	15	1	3	1	1	1	2	0	6	1	5	1	3	0	3	3	3	0	1	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:139576740C>T	ENST00000358430.3	-	7	1270	c.1038G>A	c.(1036-1038)gcG>gcA	p.A346A		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	346						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCAGCACTTTCGCCTGAAGTT	0.512													61	80					0	0	0	0	T	139576740	C	T	139576740	2	4	5	1	0	0	0	0	0	0	0	1	16884	871	31	1		1	TXLNB	6	139576740	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	8814625	139576740	31538327	180	1299											
UTRN	7402	broad.mit.edu	37	chr6	144843114	144843114	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttttgctgtttttgtAggcaatccctattcaacaga	8	20	6	7	0	1	1	1	0	0	1	2	1	2	1	1	1	2	4	1	1	4	9			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:144843114A>G	ENST00000367545.3	+	39	5541		c.e39-1			NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTGTTTTTGTAGGCAATCCCT	0.289													3	150					0	0	0	0	G	144843114	A	G	144843114	5	3	5	1	0	0	0	0	0	0	1	0	17199	434	15	5	5694	5	UTRN	6	144843114	Splice_Site	SNP	A	TCGA-BA-4078-01A-01D-1434-08	5266374	144843114	26271953	181	1300											
MYCT1	80177	broad.mit.edu	37	chr6	153043144	153043144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttccctggaacaagcaaattCctttccaagaaaatcaagtt	15	11	5	10	0	1	1	1	0	0	1	4	2	4	2	3	1	2	2	3	1	7	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:153043144C>G	ENST00000367245.5	+	2	472	c.464C>G	c.(463-465)tCc>tGc	p.S155C	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	155						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CAAGCAAATTCCTTTCCAAGA	0.498													76	121					0	0	0	0	G	153043144	C	G	153043144	3	3	5	1	0	0	0	0	1	0	0	0	10092	855	30	2	470	2	MYCT1	6	153043144	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	8200030	153043144	18071923	182	1301											
TMEM181	57583	broad.mit.edu	37	chr6	159052421	159052421	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggatgatgatgtgatttatgGgtaagtccctgtccgttaga	9	14	13	5	1	0	4	0	3	0	1	2	5	2	5	2	2	0	2	2	2	3	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:159052421G>T	ENST00000367090.3	+	16	1771	c.1760_splice	c.e16+1	p.G587_splice		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	587					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GTGATTTATGGGTAAGTCCCT	0.468													81	127					1.32764e-51	1.99916e-51	1	0	T	159052421	G	T	159052421	5	4	5	1	0	0	0	0	0	0	1	0	16194	1246	43	4	1822	4	TMEM181	6	159052421	Splice_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	6009277	159052421	12062646	183	1302											
PLG	5340	broad.mit.edu	37	chr6	161173182	161173182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttctcaaggaagcccagCtccctgtgattgagaataaa	12	9	9	11	0	1	2	1	2	1	1	3	4	2	3	3	1	2	1	3	1	5	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:161173182C>A	ENST00000308192.9	+	18	2224	c.2161C>A	c.(2161-2163)Ctc>Atc	p.L721I		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	721	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGAAGCCCAGCTCCCTGTGAT	0.468													49	65					5.73435e-26	7.31158e-26	1	0	A	161173182	C	A	161173182	3	1	5	1	0	0	0	0	1	0	0	0	12158	797	28	4	2235	4	PLG	6	161173182	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2120761	161173182	9941885	184	1303											
PDE10A	10846	broad.mit.edu	37	chr6	165832247	165832247	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcacaacgatcggcattcaCcaggttttttgcatatatct	10	13	7	11	3	2	0	1	0	1	0	3	1	2	0	1	2	2	4	1	2	3	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:165832247C>A	ENST00000366882.1	-	12	998	c.844G>T	c.(844-846)Gtg>Ttg	p.V282L	PDE10A_ENST00000354448.4_Missense_Mutation_p.V282L|PDE10A_ENST00000539869.2_Missense_Mutation_p.V292L			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	282	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TCGGCATTCACCAGGTTTTTT	0.353													25	45					4.59853e-10	5.04982e-10	1	0	A	165832247	C	A	165832247	3	1	5	1	0	0	0	0	1	0	0	0	11701	507	18	4	1543	4	PDE10A	6	165832247	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	4659065	165832247	5282820	185	1304											
RAC1	5879	broad.mit.edu	37	chr7	6441558	6441558	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcatcctagtgggaactaaActtgatcttagggatgataa	14	12	9	6	0	2	2	1	2	1	0	3	4	3	4	1	2	2	0	1	2	6	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:6441558A>C	ENST00000348035.4	+	5	561	c.348A>C	c.(346-348)aaA>aaC	p.K116N	RAC1_ENST00000356142.4_Missense_Mutation_p.K135N|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	116					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TGGGAACTAAACTTGATCTTA	0.493													79	79					0	0	0	0	C	6441558	A	C	6441558	3	2	5	1	0	0	0	0	1	0	0	0	13056	40	2	5	427	5	RAC1	7	6441558	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08		6441558	152697105	186	1305											
C7orf26	79034	broad.mit.edu	37	chr7	6639935	6639935	+	Silent	SNP	G	G	T																															gagctctcgctggaccggctGgcgcaggctctgcaggtggc																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:6639935G>T	ENST00000344417.5	+	4	1323	c.1056G>T	c.(1054-1056)ctG>ctT	p.L352L	C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Silent_p.L255L	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	352										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		TGGACCGGCTGGCGCAGGCTC	0.667													19	34					1.33834e-09	1.45735e-09	1	0	T	6639935	G	T	6639935	2	4	5	1	0	0	0	0	0	0	0	1	2404	1335	47	4		4	C7orf26	7	6639935	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	198377	6639935	152498728	187	1306	22	2									
C7orf26	79034	broad.mit.edu	37	chr7	6639936	6639936	+	Missense_Mutation	SNP	G	G	T																															agctctcgctggaccggctgGcgcaggctctgcaggtggcc																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:6639936G>T	ENST00000344417.5	+	4	1324	c.1057G>T	c.(1057-1059)Gcg>Tcg	p.A353S	C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Missense_Mutation_p.A256S	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	353										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GGACCGGCTGGCGCAGGCTCT	0.672													20	34					2.4624e-09	2.67688e-09	1	0	T	6639936	G	T	6639936	3	4	5	1	0	0	0	0	1	0	0	0	2404	1203	42	4	1071	4	C7orf26	7	6639936	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1	6639936	152498727	188	1307	22	2									
C1GALT1	56913	broad.mit.edu	37	chr7	7278431	7278431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgaatgtagaagcaggaGattccagagataccattgga	15	10	11	5	0	0	4	0	1	0	3	1	7	1	5	2	2	2	2	2	2	5	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:7278431G>T	ENST00000436587.2	+	3	989	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	C1GALT1_ENST00000223122.2_Missense_Mutation_p.D256Y|C1GALT1_ENST00000402468.3_Missense_Mutation_p.D256Y	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	256					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AGAAGCAGGAGATTCCAGAGA	0.368													4	108					0.150653	0.152296	1	0	T	7278431	G	T	7278431	3	4	5	1	0	0	0	0	1	0	0	0	1971	942	33	2	772	2	C1GALT1	7	7278431	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	638495	7278431	151860232	189	1308											
DNAH11	8701	broad.mit.edu	37	chr7	21730396	21730396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtagatttgtatttcttGgggaagctatcacactgaag	11	14	11	5	0	2	2	1	1	1	1	2	3	2	3	0	3	1	3	0	3	5	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:21730396G>T	ENST00000328843.6	+	36	5990	c.5959G>T	c.(5959-5961)Ggg>Tgg	p.G1987W	DNAH11_ENST00000409508.3_Missense_Mutation_p.G1980W			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1987	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTATTTCTTGGGGAAGCTAT	0.353									Kartagener syndrome				112	166					8.58103e-55	1.30119e-54	1	0	T	21730396	G	T	21730396	3	4	5	1	0	0	0	0	1	0	0	0	4636	1348	47	4	6098	4	DNAH11	7	21730396	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	14451965	21730396	137408267	190	1309											
OSBPL3	26031	broad.mit.edu	37	chr7	24856232	24856232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagaagaagaacttacactGgcagagtcacatgggttgtg	14	8	12	7	0	1	4	1	0	0	4	1	4	1	4	0	2	2	2	0	2	4	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:24856232G>A	ENST00000313367.2	-	18	2475	c.2024C>T	c.(2023-2025)cCa>cTa	p.P675L	OSBPL3_ENST00000396429.1_Missense_Mutation_p.P639L|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P644L|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P644L|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P608L|OSBPL3_ENST00000431825.2_Missense_Mutation_p.P608L|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P639L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	675					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AACTTACACTGGCAGAGTCAC	0.448													109	137					0	0	0	0	A	24856232	G	A	24856232	3	1	5	1	0	0	0	0	1	0	0	0	11350	1348	47	4	663	4	OSBPL3	7	24856232	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3125836	24856232	134282431	191	1310											
CREB5	9586	broad.mit.edu	37	chr7	28534558	28534558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaccatctgatgattcataGgcacaaacatgaaatgactt	15	10	8	8	0	2	4	1	4	1	0	2	5	2	5	1	2	1	1	1	2	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:28534558G>A	ENST00000357727.2	+	3	500	c.110G>A	c.(109-111)aGg>aAg	p.R37K	CREB5_ENST00000409603.1_Missense_Mutation_p.R4K|CREB5_ENST00000396299.2_Missense_Mutation_p.R4K|CREB5_ENST00000396300.2_Missense_Mutation_p.R30K	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	37					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ATGATTCATAGGCACAAACAT	0.388													77	128					0	0	0	0	A	28534558	G	A	28534558	3	1	5	1	0	0	0	0	1	0	0	0	3890	1000	35	4	120	4	CREB5	7	28534558	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3678326	28534558	130604105	192	1311											
DDX56	54606	broad.mit.edu	37	chr7	44608736	44608736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagcagctcaccctgcagCgatagcggaagccctcgatc	10	5	10	16	3	1	0	1	0	0	0	3	3	1	1	2	1	6	3	2	1	2	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:44608736C>A	ENST00000258772.5	-	10	1392	c.1286G>T	c.(1285-1287)cGc>cTc	p.R429L	DDX56_ENST00000431640.1_Missense_Mutation_p.R389L|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	429					rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CACCCTGCAGCGATAGCGGAA	0.627													48	62					1.48341e-19	1.76002e-19	1	0	A	44608736	C	A	44608736	3	1	5	1	0	0	0	0	1	0	0	0	4406	768	27	3	377	3	DDX56	7	44608736	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	16074178	44608736	114529927	193	1312											
POM121L12	285877	broad.mit.edu	37	chr7	53103882	53103882	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagctcctggacccctGcacccgggagactctgctgg	6	6	13	16	1	1	1	0	0	1	1	2	4	2	3	5	4	3	3	5	4	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:53103882G>T	ENST00000408890.4	+	1	534	c.518G>T	c.(517-519)tGc>tTc	p.C173F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	173										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTGGACCCCTGCACCCGGGAG	0.716													21	28					6.21321e-17	7.20067e-17	1	0	T	53103882	G	T	53103882	3	4	5	1	0	0	0	0	1	0	0	0	12313	1319	46	4	520	4	POM121L12	7	53103882	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	8495146	53103882	106034781	194	1313											
ZNF117	51351	broad.mit.edu	37	chr7	64439659	64439659	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgtctcatcttgtgtctaTttgaatttgaaattttatgg	9	21	7	4	0	3	2	1	2	3	0	4	2	3	2	0	1	0	0	0	1	5	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:64439659T>G	ENST00000282869.5	-	4	1574	c.290A>C	c.(289-291)aAt>aCt	p.N97T		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	97						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTTGTGTCTATTTGAATTTGA	0.279													35	48					0	0	0	0	G	64439659	T	G	64439659	3	3	5	1	0	0	0	0	1	0	0	0	17812	1493	52	5	1165	5	ZNF117	7	64439659	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	11335777	64439659	94699004	195	1314											
CALN1	83698	broad.mit.edu	37	chr7	71571224	71571224	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggccatgcccagctcctgCttggagatgaagccgttccc	7	9	11	14	1	0	2	0	1	0	1	2	3	2	2	5	2	4	3	5	2	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:71571224C>T	ENST00000395275.2	-	4	688	c.300G>A	c.(298-300)aaG>aaA	p.K100K	CALN1_ENST00000405452.2_Silent_p.K58K|CALN1_ENST00000431984.1_Silent_p.K58K|CALN1_ENST00000395276.2_Silent_p.K58K|CALN1_ENST00000329008.5_Silent_p.K58K|CALN1_ENST00000412588.1_Silent_p.K100K	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	58	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCAGCTCCTGCTTGGAGATGA	0.567													28	33					0	0	0	0	T	71571224	C	T	71571224	2	4	5	1	0	0	0	0	0	0	0	1	2616	796	28	4		4	CALN1	7	71571224	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	7131565	71571224	87567439	196	1315											
TYW1B	441250	broad.mit.edu	37	chr7	72209696	72209696	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatgaatactcctactagTatctgcacgacgcaggaaat	14	9	7	11	2	1	1	0	1	1	0	2	3	2	2	2	1	3	3	2	1	6	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:72209696T>G	ENST00000438125.1	-	0	577							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTCCTACTAGTATCTGCACGA	0.363													12	16					0	0	0	0	G	72209696	T	G	72209696	1	3	5	0	1	0	0	0	0	0	0	0	16915	1653	57	5		5	TYW1B	7	72209696	RNA	SNP	T	TCGA-BA-4078-01A-01D-1434-08	638472	72209696	86928967	197	1316											
LIMK1	3984	broad.mit.edu	37	chr7	73521389	73521389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgctggctcactgggctccCcggcctcccagcgcaaggac	5	5	13	18	3	1	0	1	0	0	0	3	1	3	1	4	4	1	4	4	4	1	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:73521389C>T	ENST00000418310.1	+	8	1123	c.1021C>T	c.(1021-1023)Ccg>Tcg	p.P341S	LIMK1_ENST00000336180.2_Missense_Mutation_p.P311S|LIMK1_ENST00000538333.3_Missense_Mutation_p.P277S			P53667	LIMK1_HUMAN	LIM domain kinase 1	311	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				ACTGGGCTCCCCGGCCTCCCA	0.701													13	16					0	0	0	0	T	73521389	C	T	73521389	3	4	5	1	0	0	0	0	1	0	0	0	8855	623	22	4	961	4	LIMK1	7	73521389	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	1311693	73521389	85617274	198	1317											
CACNA2D1	781	broad.mit.edu	37	chr7	81693670	81693670	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgcagctccttggatgtaCctgaaacaaatattgtaata	14	12	8	7	0	0	1	0	1	0	0	1	3	1	2	2	1	4	4	2	1	6	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:81693670C>A	ENST00000356860.3	-	9	1067	c.728_splice	c.e9-1	p.W243_splice	CACNA2D1_ENST00000356253.5_Splice_Site_p.W243_splice|CACNA2D1_ENST00000423588.1_Splice_Site_p.W243_splice	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	243						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTTGGATGTACCTGAAACAAA	0.318													28	57					2.61193e-14	2.95837e-14	1	0	A	81693670	C	A	81693670	5	1	5	1	0	0	0	0	0	0	1	0	2573	521	18	4	2670	4	CACNA2D1	7	81693670	Splice_Site	SNP	C	TCGA-BA-4078-01A-01D-1434-08	8172281	81693670	77444993	199	1318											
RUNDC3B	154661	broad.mit.edu	37	chr7	87329865	87329865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgtcagttcttctagaGctaaggtaagacattggtca	14	12	9	6	0	4	2	2	0	2	2	4	2	4	2	0	2	1	3	0	2	5	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:87329865G>A	ENST00000338056.3	+	4	829	c.418G>A	c.(418-420)Gct>Act	p.A140T	ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.A123T|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.A123T	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	140	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TTCTTCTAGAGCTAAGGTAAG	0.383													72	142					0	0	0	0	A	87329865	G	A	87329865	3	1	5	1	0	0	0	0	1	0	0	0	13830	971	34	4	432	4	RUNDC3B	7	87329865	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	5636195	87329865	71808798	200	1319											
PPP1R9A	55607	broad.mit.edu	37	chr7	94879404	94879404	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaactccaacaaaacataGaagagaataaggaaagaatg	22	4	7	8	0	0	3	0	0	0	3	1	5	1	4	2	1	3	0	2	1	10	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:94879404G>T	ENST00000289495.5	+	8	2383	c.2167G>T	c.(2167-2169)Gaa>Taa	p.E723*	PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.E723*|PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.E723*|PPP1R9A_ENST00000433881.1_Nonsense_Mutation_p.E723*|PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.E723*|PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.E745*	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	723	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAAAACATAGAAGAGAATAA	0.413										HNSCC(28;0.073)			16	32					4.75885e-15	5.40892e-15	1	0	T	94879404	G	T	94879404	4	4	5	1	0	0	0	0	0	1	0	0	12454	943	33	2	2267	2	PPP1R9A	7	94879404	Nonsense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	7549539	94879404	64259259	201	1320											
PON2	5445	broad.mit.edu	37	chr7	95034735	95034735	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacttccttggagaacagaCccattgttggcataaactgt	12	11	9	9	0	0	2	0	0	0	2	1	4	1	2	2	2	3	2	2	2	4	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:95034735C>T	ENST00000536183.1	-	9	1218	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	PON2_ENST00000433091.2_Silent_p.G312G|PON2_ENST00000222572.3_Silent_p.G324G|PON2_ENST00000483292.1_5'UTR	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	324					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GGAGAACAGACCCATTGTTGG	0.423													57	92					0	0	0	0	T	95034735	C	T	95034735	2	4	5	1	0	0	0	0	0	0	0	1	12321	494	18	4		4	PON2	7	95034735	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	155331	95034735	64103928	202	1321											
BRI3	25798	broad.mit.edu	37	chr7	97920509	97920509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggttcatttgctgttttgCcttgaggaagcgacgatgcc	6	14	13	8	2	1	1	1	1	0	0	1	4	1	2	2	2	4	3	2	2	1	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:97920509C>T	ENST00000297290.3	+	3	453	c.332C>T	c.(331-333)gCc>gTc	p.A111V	BRI3_ENST00000473967.1_3'UTR|BRI3_ENST00000539286.1_Intron	NM_015379.4	NP_056194.1	O95415	BRI3_HUMAN	brain protein I3	111						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)	4	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)					TGCTGTTTTGCCTTGAGGAAG	0.542													98	115					0	0	0	0	T	97920509	C	T	97920509	3	4	5	1	0	0	0	0	1	0	0	0	1520	739	26	4	342	4	BRI3	7	97920509	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2885774	97920509	61218154	203	1322											
MUC17	140453	broad.mit.edu	37	chr7	100677017	100677017	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaacaactcctcttgacAcaagcacacatatcaccact	14	10	2	15	0	3	1	2	1	1	0	4	1	4	1	2	0	3	1	2	0	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:100677017A>T	ENST00000306151.4	+	3	2384	c.2320A>T	c.(2320-2322)Aca>Tca	p.T774S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	774	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTCTTGACACAAGCACACA	0.468													226	310					0	0	0	0	T	100677017	A	T	100677017	3	4	5	1	0	0	0	0	1	0	0	0	10044	159	6	5	2330	5	MUC17	7	100677017	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	2756508	100677017	58461646	204	1323											
MUC17	140453	broad.mit.edu	37	chr7	100685698	100685698	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaccagcacacctgtgatCacttctacccaagtcagttc	11	9	6	15	0	3	1	2	1	1	0	4	2	3	1	3	0	2	2	3	0	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:100685698C>A	ENST00000306151.4	+	3	11065	c.11001C>A	c.(10999-11001)atC>atA	p.I3667I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3667	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGTGATCACTTCTACCC	0.502													86	138					4.47867e-22	5.45339e-22	1	0	A	100685698	C	A	100685698	2	1	5	1	0	0	0	0	0	0	0	1	10044	816	29	2		2	MUC17	7	100685698	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	8681	100685698	58452965	205	1324											
CUX1	1523	broad.mit.edu	37	chr7	101837129	101837129	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctcttgcagcattctgAagtccatggagtttgcaccg	7	13	11	10	1	2	1	0	1	2	0	3	2	3	2	2	1	4	5	2	1	1	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:101837129A>T	ENST00000360264.3	+	13	1137	c.1117A>T	c.(1117-1119)Aag>Tag	p.K373*	CUX1_ENST00000425244.2_Nonsense_Mutation_p.K327*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.K362*|CUX1_ENST00000547394.2_Nonsense_Mutation_p.K357*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.K362*|CUX1_ENST00000393824.3_Nonsense_Mutation_p.K334*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.K362*|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Nonsense_Mutation_p.K371*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.K362*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.K373*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.K362*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	362					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGCATTCTGAAGTCCATGGA	0.527													24	27					0	0	0	0	T	101837129	A	T	101837129	4	4	5	1	0	0	0	0	0	1	0	0	4096	247	9	5	1201	5	CUX1	7	101837129	Nonsense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	1151431	101837129	57301534	206	1325											
RELN	5649	broad.mit.edu	37	chr7	103234159	103234159	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcacatatccaggtttcagGgtcaaatctcgagttactgc	11	11	9	10	1	3	0	2	0	1	0	5	1	4	0	1	2	3	3	1	2	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:103234159G>T	ENST00000428762.1	-	27	4041	c.3882C>A	c.(3880-3882)acC>acA	p.T1294T	RELN_ENST00000343529.5_Silent_p.T1294T|RELN_ENST00000424685.2_Silent_p.T1294T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1294					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGGTTTCAGGGTCAAATCTC	0.393													83	153					1.55023e-36	2.14979e-36	1	0	T	103234159	G	T	103234159	2	4	5	1	0	0	0	0	0	0	0	1	13302	1219	43	4		4	RELN	7	103234159	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1397030	103234159	55904504	207	1326											
GPR22	2845	broad.mit.edu	37	chr7	107115363	107115363	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagtctttggtgtaagaacTtcagtttctgtaataattgc	10	17	9	5	0	3	1	1	0	2	1	3	1	3	1	0	1	2	4	0	1	5	8			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:107115363T>A	ENST00000304402.4	+	3	2201	c.858T>A	c.(856-858)acT>acA	p.T286T	COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	286						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GTGTAAGAACTTCAGTTTCTG	0.408													51	49					0	0	0	0	A	107115363	T	A	107115363	2	1	5	1	0	0	0	0	0	0	0	1	6731	1596	56	5		5	GPR22	7	107115363	Silent	SNP	T	TCGA-BA-4078-01A-01D-1434-08	3881204	107115363	52023300	208	1327											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519932	113519932	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatttgaagtagtttcctcTgaaggttgatgtgtacagtc	10	16	10	5	0	1	3	0	3	1	0	3	3	2	3	1	1	1	4	1	1	5	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:113519932T>C	ENST00000284601.3	-	4	1283	c.1215A>G	c.(1213-1215)tcA>tcG	p.S405S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	405					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAGTTTCCTCTGAAGGTTGAT	0.413													186	203					0	0	0	0	C	113519932	T	C	113519932	2	2	5	1	0	0	0	0	0	0	0	1	12447	1567	55	5		5	PPP1R3A	7	113519932	Silent	SNP	T	TCGA-BA-4078-01A-01D-1434-08	6404569	113519932	45618731	209	1328											
CAV1	857	broad.mit.edu	37	chr7	116164934	116164934	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctagacccggcgcagcacAcgtccgggccaaccgcgagc	8	2	13	18	6	0	1	0	0	0	1	1	2	1	1	5	2	3	2	5	2	2	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:116164934A>T	ENST00000341049.2	+	0	96					NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa						blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			GGCGCAGCACACGTCCGGGCC	0.677													12	14					0	0	0	0	T	116164934	A	T	116164934	1	4	5	1	0	0	0	0	0	0	0	0	2718	174	6	5		5	CAV1	7	116164934	Translation_Start_Site	SNP	A	TCGA-BA-4078-01A-01D-1434-08	2645002	116164934	42973729	210	1329											
FLNC	2318	broad.mit.edu	37	chr7	128488080	128488080	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagccactgacgggccctAcacggtagccgtcaagtatg	9	6	11	15	3	1	1	1	1	0	0	1	1	1	1	4	2	3	2	4	2	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:128488080A>G	ENST00000325888.8	+	26	4799	c.4538A>G	c.(4537-4539)tAc>tGc	p.Y1513C	FLNC_ENST00000346177.6_Missense_Mutation_p.Y1513C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1513					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						GACGGGCCCTACACGGTAGCC	0.667													8	9					0	0	0	0	G	128488080	A	G	128488080	3	3	5	1	0	0	0	0	1	0	0	0	5980	391	14	5	4640	5	FLNC	7	128488080	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	12323146	128488080	30650583	211	1330											
PLXNA4	91584	broad.mit.edu	37	chr7	131853075	131853075	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcacctcctgagcagcAgcttagggtggttcttgctc	6	11	10	14	0	2	1	1	1	1	0	4	1	3	1	3	2	4	5	3	2	1	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:131853075A>T	ENST00000359827.3	-	22	5236	c.4274T>A	c.(4273-4275)cTg>cAg	p.L1425Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1425Q			Q9HCM2	PLXA4_HUMAN	plexin A4	1425						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCTGAGCAGCAGCTTAGGGTG	0.612													9	13					0	0	0	0	T	131853075	A	T	131853075	3	4	5	1	0	0	0	0	1	0	0	0	12194	188	7	5	1454	5	PLXNA4	7	131853075	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	3364995	131853075	27285588	212	1331											
PLXNA4	91584	broad.mit.edu	37	chr7	131913220	131913220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctcacaccgctccttcCgggtgcaactgggaaggaca	9	6	11	15	3	1	0	1	0	0	0	3	2	3	2	4	3	2	3	4	3	2	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:131913220C>A	ENST00000359827.3	-	6	2575	c.1613G>T	c.(1612-1614)cGg>cTg	p.R538L	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R538L			Q9HCM2	PLXA4_HUMAN	plexin A4	538	PSI 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGCTCCTTCCGGGTGCAACT	0.607													34	48					2.87052e-16	3.30313e-16	1	0	A	131913220	C	A	131913220	3	1	5	1	0	0	0	0	1	0	0	0	12194	652	23	3	4179	3	PLXNA4	7	131913220	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	60145	131913220	27225443	213	1332											
WDR91	29062	broad.mit.edu	37	chr7	134893687	134893687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaccaatccttccactcagCctggttctggagttccgtgg	8	11	9	13	1	2	0	1	0	1	0	5	1	5	1	5	3	2	2	5	3	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:134893687C>T	ENST00000354475.4	-	3	398	c.367G>A	c.(367-369)Gct>Act	p.A123T	WDR91_ENST00000344400.5_Missense_Mutation_p.A123T|WDR91_ENST00000423565.1_Missense_Mutation_p.A88T	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	123										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTCCACTCAGCCTGGTTCTGG	0.537													81	134					0	0	0	0	T	134893687	C	T	134893687	3	4	5	1	0	0	0	0	1	0	0	0	17434	739	26	4	1928	4	WDR91	7	134893687	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2980467	134893687	24244976	214	1333											
AKR1D1	6718	broad.mit.edu	37	chr7	137773407	137773407	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgacacagggtaccgacatAttgatggggcctacatctac	11	10	10	10	1	1	2	0	2	1	0	1	3	1	2	2	3	3	1	2	3	4	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:137773407A>G	ENST00000242375.3	+	2	196	c.154A>G	c.(154-156)Att>Gtt	p.I52V	AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000411726.2_Missense_Mutation_p.I52V|AKR1D1_ENST00000432161.1_Missense_Mutation_p.I52V	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	52					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic 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						GTACCGACATATTGATGGGGC	0.488													32	41					0	0	0	0	G	137773407	A	G	137773407	3	3	5	1	0	0	0	0	1	0	0	0	473	449	16	5	160	5	AKR1D1	7	137773407	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	2879720	137773407	21365256	215	1334											
WEE2	494551	broad.mit.edu	37	chr7	141424933	141424933	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgctgcatggcaccatatCcgcaagggtaactttccgga	9	9	12	11	2	0	0	0	0	0	0	2	1	2	1	3	4	3	5	3	4	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:141424933C>A	ENST00000397541.2	+	9	1735	c.1329C>A	c.(1327-1329)atC>atA	p.I443I	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	443	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GGCACCATATCCGCAAGGGTA	0.493													49	69					8.00217e-19	9.44256e-19	1	0	A	141424933	C	A	141424933	2	1	5	1	0	0	0	0	0	0	0	1	17441	845	30	2		2	WEE2	7	141424933	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	3651526	141424933	17713730	216	1335											
MGAM	8972	broad.mit.edu	37	chr7	141803074	141803074	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccaattcaacagaatacGatgcaaagccatataatttt	16	12	4	9	1	2	1	1	0	1	1	3	2	2	1	2	0	4	1	2	0	7	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:141803074G>A	ENST00000475668.2	+	70	8073	c.8019G>A	c.(8017-8019)acG>acA	p.T2673T	MGAM_ENST00000549489.2_Silent_p.T1777T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1777					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AACAGAATACGATGCAAAGCC	0.348													13	12					0	0	0	0	A	141803074	G	A	141803074	2	1	5	1	0	0	0	0	0	0	0	1	9610	1045	37	1		1	MGAM	7	141803074	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	378141	141803074	17335589	217	1336											
OR2F2	135948	broad.mit.edu	37	chr7	143633169	143633169	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtcttctatgccattgttAtgcctctgctgaaccctgtg	5	16	8	12	0	3	1	0	1	3	0	3	1	3	1	3	0	4	2	3	0	3	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:143633169A>T	ENST00000408955.2	+	1	911	c.844A>T	c.(844-846)Atg>Ttg	p.M282L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TGCCATTGTTATGCCTCTGCT	0.463													88	111					0	0	0	0	T	143633169	A	T	143633169	3	4	5	1	0	0	0	0	1	0	0	0	11068	449	16	5	846	5	OR2F2	7	143633169	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	1830095	143633169	15505494	218	1337											
OR2A25	392138	broad.mit.edu	37	chr7	143772005	143772005	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagatccagtcaggagaGgggtgccagaaagccttctc	12	7	12	10	0	2	3	1	0	1	3	4	4	3	3	3	3	2	0	3	3	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:143772005G>C	ENST00000408898.2	+	1	731	c.693G>C	c.(691-693)gaG>gaC	p.E231D		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AGTCAGGAGAGGGGTGCCAGA	0.483													92	140					0	0	0	0	C	143772005	G	C	143772005	3	2	5	1	0	0	0	0	1	0	0	0	11049	991	35	4	695	4	OR2A25	7	143772005	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	138836	143772005	15366658	219	1338											
CNTNAP2	26047	broad.mit.edu	37	chr7	146829578	146829578	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcacacagaccaagaTgagccaaatcgatatttcct	16	8	5	12	1	1	3	1	1	0	2	3	4	2	3	3	0	2	0	3	0	4	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:146829578T>A	ENST00000361727.3	+	8	1841	c.1325T>A	c.(1324-1326)aTg>aAg	p.M442K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	442	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGACCAAGATGAGCCAAATC	0.408										HNSCC(39;0.1)			48	69					0	0	0	0	A	146829578	T	A	146829578	3	1	5	1	0	0	0	0	1	0	0	0	3677	1464	51	5	1355	5	CNTNAP2	7	146829578	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	3057573	146829578	12309085	220	1339											
AGAP3	116988	broad.mit.edu	37	chr7	150837179	150837179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaccgggaccccccgaccaGacggccccagcagtgctact	8	3	11	19	3	0	1	0	0	0	1	0	3	0	2	7	2	3	3	7	2	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:150837179G>A	ENST00000397238.2	+	13	1780	c.1780G>A	c.(1780-1782)Gac>Aac	p.D594N	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	558	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCCCCGACCAGACGGCCCCAG	0.607													11	20					0	0	0	0	A	150837179	G	A	150837179	3	1	5	1	0	0	0	0	1	0	0	0	369	942	33	2	1897	2	AGAP3	7	150837179	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	4007601	150837179	8301484	221	1340											
ASB10	136371	broad.mit.edu	37	chr7	150878289	150878289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgtctgctccagctgaaaGcagcaagctgcacagctgca	11	6	11	13	1	1	1	0	1	1	0	2	1	2	1	1	0	9	8	1	0	2	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:150878289G>A	ENST00000422024.1	-	3	1101	c.976C>T	c.(976-978)Ctt>Ttt	p.L326F	ASB10_ENST00000275838.1_Missense_Mutation_p.L281F|ASB10_ENST00000420175.2_Missense_Mutation_p.L281F|ASB10_ENST00000434669.1_Missense_Mutation_p.L326F|ASB10_ENST00000377867.3_Missense_Mutation_p.L266F	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	281					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCTGAAAGCAGCAAGCTG	0.677													27	40					0	0	0	0	A	150878289	G	A	150878289	3	1	5	1	0	0	0	0	1	0	0	0	1018	971	34	4	574	4	ASB10	7	150878289	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	41110	150878289	8260374	222	1341											
PTPRN2	5799	broad.mit.edu	37	chr7	157985038	157985038	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcggggggtctgtccTgcgccgtatgggtcctggcg	2	9	17	13	4	2	0	1	0	1	0	4	0	4	0	4	5	2	1	4	5	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:157985038T>C	ENST00000389413.3	-	5	633	c.530A>G	c.(529-531)cAg>cGg	p.Q177R	PTPRN2_ENST00000409483.1_Missense_Mutation_p.Q139R|PTPRN2_ENST00000389418.4_Missense_Mutation_p.Q177R|PTPRN2_ENST00000389416.4_Missense_Mutation_p.Q160R|PTPRN2_ENST00000404321.2_Missense_Mutation_p.Q200R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	177						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGTCTGTCCTGCGCCGTATG	0.677													25	35					0	0	0	0	C	157985038	T	C	157985038	3	2	5	1	0	0	0	0	1	0	0	0	12890	1580	55	5	2593	5	PTPRN2	7	157985038	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	7106749	157985038	1153625	223	1342											
BLK	640	broad.mit.edu	37	chr8	11418850	11418850	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgagcgcatgaattccAtccaccgcgacctgcgggcg	9	7	11	14	5	0	2	0	2	0	0	2	3	2	2	4	1	2	1	4	1	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:11418850A>G	ENST00000259089.4	+	11	1661	c.1069A>G	c.(1069-1071)Atc>Gtc	p.I357V	BLK_ENST00000529894.1_Missense_Mutation_p.I286V	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	357	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CATGAATTCCATCCACCGCGA	0.562													25	25					0	0	0	0	G	11418850	A	G	11418850	3	3	5	1	0	0	0	0	1	0	0	0	1449	217	8	5	1107	5	BLK	8	11418850	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08		11418850	134945172	224	1343											
PDLIM2	64236	broad.mit.edu	37	chr8	22442530	22442530	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacagtcactctctccacagGgctccgtgaggacatacact	10	8	8	15	1	2	1	1	1	1	0	5	2	4	2	2	2	1	1	2	2	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:22442530G>A	ENST00000265810.4	+	4	431	c.315_splice	c.e4-1	p.G106_splice	PDLIM2_ENST00000308354.7_Splice_Site_p.G356_splice|PDLIM2_ENST00000397760.4_Splice_Site_p.G106_splice|PDLIM2_ENST00000409417.1_Splice_Site_p.G106_splice|PDLIM2_ENST00000339162.7_Splice_Site_p.G106_splice|PDLIM2_ENST00000409141.1_Splice_Site_p.G106_splice|PDLIM2_ENST00000397761.2_Splice_Site_p.G106_splice|PDLIM2_ENST00000448520.1_3'UTR	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	106						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CTCTCCACAGGGCTCCGTGAG	0.637													88	127					0	0	0	0	A	22442530	G	A	22442530	5	1	5	1	0	0	0	0	0	0	1	0	11751	1246	43	4	330	4	PDLIM2	8	22442530	Splice_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	11023680	22442530	123921492	225	1344											
DPYSL2	1808	broad.mit.edu	37	chr8	26501563	26501563	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgattccggagggcaccAatggcactgaggagcggatg	9	6	15	11	2	0	2	0	2	0	0	1	5	1	5	3	5	1	2	3	5	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:26501563A>T	ENST00000311151.5	+	10	1478	c.1066A>T	c.(1066-1068)Aat>Tat	p.N356Y	DPYSL2_ENST00000521913.1_Missense_Mutation_p.N320Y|DPYSL2_ENST00000523027.1_Missense_Mutation_p.N320Y	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	356					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GGAGGGCACCAATGGCACTGA	0.577													28	47					0	0	0	0	T	26501563	A	T	26501563	3	4	5	1	0	0	0	0	1	0	0	0	4783	130	5	5	1104	5	DPYSL2	8	26501563	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	4059033	26501563	119862459	226	1345											
UNC5D	137970	broad.mit.edu	37	chr8	35588529	35588529	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttggctttttctgttttaGgggtgagcttactcatacca	6	18	10	7	0	2	1	1	1	1	0	2	1	2	1	1	3	3	4	1	3	3	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:35588529G>A	ENST00000287272.2	+	10	1494		c.e10-1		UNC5D_ENST00000420357.1_Splice_Site|UNC5D_ENST00000416672.1_Splice_Site|UNC5D_ENST00000404895.2_Splice_Site|UNC5D_ENST00000449677.1_Splice_Site|UNC5D_ENST00000453357.2_Splice_Site			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)						apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTCTGTTTTAGGGGTGAGCTT	0.423													40	41					0	0	0	0	A	35588529	G	A	35588529	5	1	5	1	0	0	0	0	0	0	1	0	17091	1014	35	4	1723	4	UNC5D	8	35588529	Splice_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	9086966	35588529	110775493	227	1346											
ADAM2	2515	broad.mit.edu	37	chr8	39613295	39613295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatccacatcttttggctGtctgcatgatcactggcaaa	9	15	7	10	0	3	1	1	1	2	0	4	1	4	1	1	2	1	3	1	2	2	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:39613295G>T	ENST00000265708.4	-	16	1852	c.1749C>A	c.(1747-1749)gaC>gaA	p.D583E	ADAM2_ENST00000347580.4_Missense_Mutation_p.D564E|ADAM2_ENST00000379853.2_Missense_Mutation_p.D427E|ADAM2_ENST00000521880.1_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	583	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCTTTTGGCTGTCTGCATGAT	0.348													39	61					1.90571e-15	2.16983e-15	1	0	T	39613295	G	T	39613295	3	4	5	1	0	0	0	0	1	0	0	0	241	1368	48	4	478	4	ADAM2	8	39613295	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	4024766	39613295	106750727	228	1347											
SLC20A2	6575	broad.mit.edu	37	chr8	42294989	42294989	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagccccgagtctttgtgCacggtgtggtacacatgacc	8	10	12	11	2	1	2	0	1	1	1	1	3	1	2	3	2	3	2	3	2	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:42294989C>A	ENST00000342228.3	-	8	1410	c.1041G>T	c.(1039-1041)gtG>gtT	p.V347V	SLC20A2_ENST00000520179.1_Silent_p.V347V|SLC20A2_ENST00000520262.1_Silent_p.V347V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	347					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGTCTTTGTGCACGGTGTGGT	0.592													87	120					8.55712e-49	1.27084e-48	1	0	A	42294989	C	A	42294989	2	1	5	1	0	0	0	0	0	0	0	1	14527	697	25	4		4	SLC20A2	8	42294989	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2681694	42294989	104069033	229	1348											
RP1	6101	broad.mit.edu	37	chr8	55540694	55540694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagaaacatagttctctaGatgattttgaaaattgttca	16	15	6	4	0	2	4	1	2	1	2	3	4	2	4	0	0	1	2	0	0	6	8			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:55540694G>T	ENST00000220676.1	+	4	4400	c.4252G>T	c.(4252-4254)Gat>Tat	p.D1418Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1418					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAGTTCTCTAGATGATTTTGA	0.358													50	93					1.61004e-24	2.03291e-24	1	0	T	55540694	G	T	55540694	3	4	5	1	0	0	0	0	1	0	0	0	13617	942	33	2	4262	2	RP1	8	55540694	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	13245705	55540694	90823328	230	1349											
JPH1	56704	broad.mit.edu	37	chr8	75233335	75233340	+	In_Frame_Del	DEL	TAGCCC	TAGCCC	-																															gccgcttgccctgcgcccagTagccctggtaggtgttgccg																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:75233335_75233340delTAGCCC	ENST00000342232.4	-	1	223_228	c.183_188delGGGCTA	c.(181-189)cac>ca	p.QGY61del		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	61	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTGCGCCCAGTAGCCCTGGTAGGTGT	0.684													11	41	---	---	---	---					-	75233340	TAGCCC	-	75233335	7	5	5	1	0	1	0	1	0	0	0	0	8013	1638	57	0	1817	0	JPH1	8	75233335	In_Frame_Del	DEL	TAGCCC	TCGA-BA-4078-01A-01D-1434-08	19692641	75233335	71130687	231	1350											
ZFHX4	79776	broad.mit.edu	37	chr8	77618582	77618582	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaccagcctcagtggctgCggaacaccctctccgtccaa	10	6	8	17	2	2	0	1	0	1	0	4	1	3	1	5	2	4	1	5	2	3	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:77618582C>A	ENST00000521891.2	+	2	2707	c.2259C>A	c.(2257-2259)tgC>tgA	p.C753*	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.C753*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.C753*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.C753*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	753						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCAGTGGCTGCGGAACACCCT	0.527										HNSCC(33;0.089)			21	19					0.000375601	0.000388161	1	0	A	77618582	C	A	77618582	4	1	5	1	0	0	0	0	0	1	0	0	17730	776	27	3	2261	3	ZFHX4	8	77618582	Nonsense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2385247	77618582	68745440	232	1351											
CNBD1	168975	broad.mit.edu	37	chr8	88363947	88363947	+	Silent	SNP	G	G	T																															ggaaatataatttcttttgtGggttatattaactctggatg																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:88363947G>T	ENST00000518476.1	+	9	1128	c.1077G>T	c.(1075-1077)gtG>gtT	p.V359V		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	359										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTTCTTTTGTGGGTTATATTA	0.264													5	8					5.9392e-07	6.30858e-07	1	0	T	88363947	G	T	88363947	2	4	5	1	0	0	0	0	0	0	0	1	3621	1335	47	4		4	CNBD1	8	88363947	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	10745365	88363947	58000075	233	1352	23	2									
CNBD1	168975	broad.mit.edu	37	chr8	88363948	88363948	+	Missense_Mutation	SNP	G	G	T																															gaaatataatttcttttgtgGgttatattaactctggatgc																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:88363948G>T	ENST00000518476.1	+	9	1129	c.1078G>T	c.(1078-1080)Ggt>Tgt	p.G360C		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	360										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTCTTTTGTGGGTTATATTAA	0.264													5	8					2.7689e-08	2.97519e-08	1	0	T	88363948	G	T	88363948	3	4	5	1	0	0	0	0	1	0	0	0	3621	1232	43	4	1112	4	CNBD1	8	88363948	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1	88363948	58000074	234	1353	23	2									
RUNX1T1	862	broad.mit.edu	37	chr8	92982970	92982970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgaccgtgcgctccatCttggccctctctgttgtgat	3	13	11	14	4	2	1	0	1	2	0	5	2	3	1	3	2	1	2	3	2	0	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:92982970C>A	ENST00000523629.1	-	11	1909	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.K458N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.K448N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.K485N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.K458N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.K448N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.K496N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.K448N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	485					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)			TGCGCTCCATCTTGGCCCTCT	0.617													43	64					3.54909e-21	4.27339e-21	1	0	A	92982970	C	A	92982970	3	1	5	1	0	0	0	0	1	0	0	0	13832	912	32	2	367	2	RUNX1T1	8	92982970	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	4619022	92982970	53381052	235	1354											
VPS13B	157680	broad.mit.edu	37	chr8	100866327	100866327	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgatccagccagtaaatttGctcgtcagcatccacgcttc	9	11	8	13	2	1	1	1	1	0	0	5	1	3	1	3	0	3	4	3	0	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:100866327G>A	ENST00000358544.2	+	56	10896	c.10785G>A	c.(10783-10785)ttG>ttA	p.L3595L	VPS13B_ENST00000357162.2_Silent_p.L3570L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3595					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGTAAATTTGCTCGTCAGCA	0.542													39	46					0	0	0	0	A	100866327	G	A	100866327	2	1	5	1	0	0	0	0	0	0	0	1	17286	1310	46	4		4	VPS13B	8	100866327	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	7883357	100866327	45497695	236	1355											
PKHD1L1	93035	broad.mit.edu	37	chr8	110402680	110402680	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtattttcattaaattccaGgtcatcacaatgtcagcttc	11	16	5	9	0	4	0	4	0	0	0	6	0	5	0	1	1	1	2	1	1	4	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:110402680G>T	ENST00000378402.5	+	9	801		c.e9-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTAAATTCCAGGTCATCACAA	0.274										HNSCC(38;0.096)			4	7					0.184627	0.18635	1	0	T	110402680	G	T	110402680	5	4	5	1	0	0	0	0	0	0	1	0	12044	1014	35	4	731	4	PKHD1L1	8	110402680	Splice_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	9536353	110402680	35961342	237	1356											
PKHD1L1	93035	broad.mit.edu	37	chr8	110425733	110425733	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatagcaagattactagaagCactgatacacagtttacata	18	10	6	7	0	0	3	0	1	0	2	0	3	0	3	0	0	5	3	0	0	9	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:110425733C>T	ENST00000378402.5	+	21	2423	c.2319C>T	c.(2317-2319)agC>agT	p.S773S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	773					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTACTAGAAGCACTGATACAC	0.289										HNSCC(38;0.096)			7	4					0	0	0	0	T	110425733	C	T	110425733	2	4	5	1	0	0	0	0	0	0	0	1	12044	709	25	4		4	PKHD1L1	8	110425733	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	23053	110425733	35938289	238	1357											
PKHD1L1	93035	broad.mit.edu	37	chr8	110474049	110474049	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaaagtttggagaagaaaTaggaagtgaccaatttggag	17	8	14	2	0	0	3	0	1	0	2	0	7	0	6	1	4	0	1	1	4	6	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:110474049T>A	ENST00000378402.5	+	48	7399	c.7295T>A	c.(7294-7296)aTa>aAa	p.I2432K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2432					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAGAAGAAATAGGAAGTGAC	0.393										HNSCC(38;0.096)			13	16					0	0	0	0	A	110474049	T	A	110474049	3	1	5	1	0	0	0	0	1	0	0	0	12044	1406	49	5	7485	5	PKHD1L1	8	110474049	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	48316	110474049	35889973	239	1358											
KCNV1	27012	broad.mit.edu	37	chr8	110984922	110984922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagtgggacaaggtccttGggagaagtcctgttcactct	10	10	12	9	0	2	1	1	0	1	1	4	3	4	2	2	3	1	1	2	3	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:110984922G>T	ENST00000524391.1	-	3	1588	c.556C>A	c.(556-558)Caa>Aaa	p.Q186K	KCNV1_ENST00000297404.1_Missense_Mutation_p.Q186K			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	186						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.Q186K(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CAAGGTCCTTGGGAGAAGTCC	0.458													61	98					1.45723e-30	1.91834e-30	1	0	T	110984922	G	T	110984922	3	4	5	1	0	0	0	0	1	0	0	0	8147	1357	47	4	954	4	KCNV1	8	110984922	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	510873	110984922	35379100	240	1359											
CSMD3	114788	broad.mit.edu	37	chr8	113277643	113277643	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaatcattatcatacctcTacaagttggcattactccac	14	12	4	11	0	3	1	2	0	1	1	4	1	4	1	2	1	3	2	2	1	6	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:113277643T>C	ENST00000297405.5	-	60	9929	c.9685A>G	c.(9685-9687)Aga>Gga	p.R3229G	CSMD3_ENST00000455883.2_Missense_Mutation_p.R3060G|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3189G|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3159G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3229	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCATACCTCTACAAGTTGGC	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			81	114					0	0	0	0	C	113277643	T	C	113277643	3	2	5	1	0	0	0	0	1	0	0	0	3978	1530	53	5	1486	5	CSMD3	8	113277643	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	2292721	113277643	33086379	241	1360											
ENPP2	5168	broad.mit.edu	37	chr8	120602744	120602744	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atattttaagaatcaacttaCatttagcattgttgctaaat	15	17	4	5	0	1	1	1	0	0	1	1	1	1	1	0	0	4	3	0	0	8	9			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:120602744C>A	ENST00000427067.2	-	13	1376		c.e13+1		ENPP2_ENST00000259486.6_Splice_Site|ENPP2_ENST00000522167.1_Splice_Site|ENPP2_ENST00000075322.6_Splice_Site|ENPP2_ENST00000522826.1_Splice_Site			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2						cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATCAACTTACATTTAGCATT	0.333													29	39					7.38237e-10	8.05236e-10	1	0	A	120602744	C	A	120602744	5	1	5	1	0	0	0	0	0	0	1	0	5168	492	17	4	1514	4	ENPP2	8	120602744	Splice_Site	SNP	C	TCGA-BA-4078-01A-01D-1434-08	7325101	120602744	25761278	242	1361											
COL14A1	7373	broad.mit.edu	37	chr8	121240971	121240971	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtttttggacagaaccAgctacaaccatagtgcctac	13	9	8	11	0	0	1	0	0	0	1	0	3	0	2	3	1	6	2	3	1	5	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:121240971A>T	ENST00000297848.3	+	18	2430	c.2160A>T	c.(2158-2160)ccA>ccT	p.P720P	COL14A1_ENST00000309791.4_Silent_p.P720P|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.P625P|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	720					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGACAGAACCAGCTACAACCA	0.328													62	91					0	0	0	0	T	121240971	A	T	121240971	2	4	5	1	0	0	0	0	0	0	0	1	3701	175	7	5		5	COL14A1	8	121240971	Silent	SNP	A	TCGA-BA-4078-01A-01D-1434-08	638227	121240971	25123051	243	1362											
EFR3A	23167	broad.mit.edu	37	chr8	132971846	132971846	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggcatttagatcatcAcaaactgtgggatcccaatg	12	11	9	9	0	2	1	2	0	0	1	3	2	3	2	1	2	2	2	1	2	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:132971846A>G	ENST00000254624.5	+	8	1016	c.791A>G	c.(790-792)cAc>cGc	p.H264R	EFR3A_ENST00000519656.1_Missense_Mutation_p.H228R|EFR3A_ENST00000334503.4_Missense_Mutation_p.H264R	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	264						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTAGATCATCACAAACTGTGG	0.279													40	69					0	0	0	0	G	132971846	A	G	132971846	3	3	5	1	0	0	0	0	1	0	0	0	4994	159	6	5	821	5	EFR3A	8	132971846	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	11730875	132971846	13392176	244	1363											
ZFAT	57623	broad.mit.edu	37	chr8	135612791	135612791	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgtgtttctgaattacgTggcgtttaaggcagtttttg	7	18	11	5	2	1	1	0	1	1	0	1	1	1	1	0	2	2	4	0	2	4	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:135612791T>C	ENST00000520727.1	-	8	2626	c.2327A>G	c.(2326-2328)cAc>cGc	p.H776R	ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Missense_Mutation_p.H776R|ZFAT_ENST00000523399.1_Missense_Mutation_p.H726R|ZFAT_ENST00000429442.2_Missense_Mutation_p.H776R|ZFAT_ENST00000377838.3_Missense_Mutation_p.H788R|ZFAT_ENST00000520356.1_Missense_Mutation_p.H776R	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	788					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGAATTACGTGGCGTTTAAG	0.428													90	151					0	0	0	0	C	135612791	T	C	135612791	3	2	5	1	0	0	0	0	1	0	0	0	17727	1696	59	5	1408	5	ZFAT	8	135612791	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	2640945	135612791	10751231	245	1364											
FAM135B	51059	broad.mit.edu	37	chr8	139180143	139180143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaaacagacaaacctgtcGcagggcagtccacgtatctg	14	6	9	12	2	1	1	0	0	1	1	3	1	2	1	2	1	2	3	2	1	4	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:139180143G>T	ENST00000395297.1	-	12	1423	c.1253C>A	c.(1252-1254)gCg>gAg	p.A418E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	418										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAAACCTGTCGCAGGGCAGTC	0.507										HNSCC(54;0.14)			91	114					1.37074e-43	1.98131e-43	1	0	T	139180143	G	T	139180143	3	4	5	1	0	0	0	0	1	0	0	0	5490	1087	38	3	3003	3	FAM135B	8	139180143	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3567352	139180143	7183879	246	1365											
COL22A1	169044	broad.mit.edu	37	chr8	139638470	139638470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatgggccttgggggccaGgagggccttctttcccctaa	6	9	14	12	0	1	1	0	0	1	1	2	2	2	2	5	5	0	0	5	5	1	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:139638470G>T	ENST00000303045.6	-	51	4126	c.3680C>A	c.(3679-3681)cCt>cAt	p.P1227H	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1207H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1227	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGGGGGCCAGGAGGGCCTTC	0.403										HNSCC(7;0.00092)			33	78					1.04352e-10	1.15177e-10	1	0	T	139638470	G	T	139638470	3	4	5	1	0	0	0	0	1	0	0	0	3711	1000	35	4	1260	4	COL22A1	8	139638470	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	458327	139638470	6725552	247	1366											
COL22A1	169044	broad.mit.edu	37	chr8	139642958	139642958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgacccttggattcctgGtggtccagcagctcctgcaa	7	10	12	12	0	0	1	0	1	0	0	3	2	3	2	4	4	3	3	4	4	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:139642958G>A	ENST00000303045.6	-	50	4089	c.3643C>T	c.(3643-3645)Cca>Tca	p.P1215S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1195S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1215	Collagen-like 11.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGATTCCTGGTGGTCCAGCA	0.478										HNSCC(7;0.00092)			150	202					0	0	0	0	A	139642958	G	A	139642958	3	1	5	1	0	0	0	0	1	0	0	0	3711	1261	44	4	1301	4	COL22A1	8	139642958	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	4488	139642958	6721064	248	1367											
SCRIB	23513	broad.mit.edu	37	chr8	144877207	144877207	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgcacactgggcactcaCcctctgcacgctgccagcgc	7	6	9	19	2	2	0	1	0	1	0	2	0	2	0	2	1	4	4	2	1	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:144877207C>A	ENST00000356994.2	-	27	3853		c.e27+1		SCRIB_ENST00000377533.3_Splice_Site|SCRIB_ENST00000320476.3_Splice_Site	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein						activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGGGCACTCACCCTCTGCACG	0.682													21	37					1.64113e-05	1.7179e-05	1	0	A	144877207	C	A	144877207	5	1	5	1	0	0	0	0	0	0	1	0	14024	521	18	4	1164	4	SCRIB	8	144877207	Splice_Site	SNP	C	TCGA-BA-4078-01A-01D-1434-08	5234249	144877207	1486815	249	1368											
RECQL4	9401	broad.mit.edu	37	chr8	145739431	145739431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccacgtcactggcagtgcGgcgtgtggctgtggctgtga	4	10	17	10	3	1	1	1	1	0	0	1	1	1	1	1	4	2	3	1	4	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:145739431G>T	ENST00000428558.2	-	12	1980	c.1939C>A	c.(1939-1941)Cgc>Agc	p.R647S	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	647	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGGCAGTGCGGCGTGTGGCT	0.672			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				4	4					1.23904e-05	1.30119e-05	1	0	T	145739431	G	T	145739431	3	4	5	1	0	0	0	0	1	0	0	0	13284	1116	39	3	1728	3	RECQL4	8	145739431	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	862224	145739431	624591	250	1369											
MPDZ	8777	broad.mit.edu	37	chr9	13196141	13196141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actatttcatagttaattccCataatcctttgccattttgt	10	19	3	9	0	1	0	1	0	0	0	3	0	3	0	3	0	1	1	3	0	4	9			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:13196141C>T	ENST00000319217.7	-	13	1882	c.1635G>A	c.(1633-1635)atG>atA	p.M545I	MPDZ_ENST00000536827.1_Missense_Mutation_p.M545I|MPDZ_ENST00000541718.1_Missense_Mutation_p.M545I|MPDZ_ENST00000447879.1_Missense_Mutation_p.M545I|MPDZ_ENST00000381022.2_Missense_Mutation_p.M545I|MPDZ_ENST00000546205.1_Missense_Mutation_p.M545I|MPDZ_ENST00000381015.4_Missense_Mutation_p.M545I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	545					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AGTTAATTCCCATAATCCTTT	0.383													11	3					0	0	0	0	T	13196141	C	T	13196141	3	4	5	1	0	0	0	0	1	0	0	0	9792	594	21	4	4626	4	MPDZ	9	13196141	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08		13196141	128017290	251	1370											
CDKN2A	1029	broad.mit.edu	37	chr9	21968233	21968233	+	Frame_Shift_Del	DEL	C	C	-																															gcctctctggttctttcaatCggggatgtctgcagagggca																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:21968233delC	ENST00000304494.5	-	3	736	c.466delG	c.(466-468)atfs	p.D156fs	CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.D105fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R131fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.D105fs|CDKN2A_ENST00000498124.1_3'UTR|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.D105fs|CDKN2A_ENST00000361570.3_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	156					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(4)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TTCTTTCAATCGGGGATGTCT	0.562		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			31	14	---	---	---	---					-	21968233	C	-	21968233	7	5	5	1	0	1	0	1	0	0	0	0	3190	884	31	0	8	0	CDKN2A	9	21968233	Frame_Shift_Del	DEL	C	TCGA-BA-4078-01A-01D-1434-08	8772092	21968233	119245198	252	1371											
TLN1	7094	broad.mit.edu	37	chr9	35717418	35717418	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcttggcagacaggtgagCtgattgtaggtgccaccacc	8	9	13	11	0	1	3	0	2	1	1	1	3	1	3	3	3	2	4	3	3	1	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:35717418C>A	ENST00000314888.9	-	19	2536	c.2183G>T	c.(2182-2184)aGc>aTc	p.S728I	TLN1_ENST00000540444.1_Missense_Mutation_p.S728I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	728					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACAGGTGAGCTGATTGTAGG	0.557													68	25					9.53695e-23	1.17671e-22	1	0	A	35717418	C	A	35717418	3	1	5	1	0	0	0	0	1	0	0	0	16041	797	28	4	5598	4	TLN1	9	35717418	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	13749185	35717418	105496013	253	1372											
ZNF658	26149	broad.mit.edu	37	chr9	40774556	40774556	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatccttacaggactttTctcctgttagaaaactctga	11	14	5	11	0	3	2	1	1	2	1	5	3	4	3	2	1	2	1	2	1	4	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:40774556T>C	ENST00000602553.1	-	5	1013	c.719A>G	c.(718-720)gAa>gGa	p.E240G	ZNF658_ENST00000441795.1_Missense_Mutation_p.E238G|ZNF658_ENST00000377626.3_Missense_Mutation_p.E240G			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACAGGACTTTTCTCCTGTTAG	0.323													74	87					0	0	0	0	C	40774556	T	C	40774556	3	2	5	1	0	0	0	0	1	0	0	0	18164	1783	62	5	2464	5	ZNF658	9	40774556	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	5057138	40774556	100438875	254	1373											
RORB	6096	broad.mit.edu	37	chr9	77257706	77257706	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacaatgggcagttagcAccagggataaccatgactga	14	8	10	9	0	1	2	1	2	0	0	1	3	1	3	2	2	3	3	2	2	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:77257706A>G	ENST00000376896.2	+	4	1224	c.612A>G	c.(610-612)gcA>gcG	p.A204A	RORB_ENST00000396204.2_Silent_p.A215A	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	215	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCAGTTAGCACCAGGGATAA	0.408													47	70					0	0	0	0	G	77257706	A	G	77257706	2	3	5	1	0	0	0	0	0	0	0	1	13614	146	6	5		5	RORB	9	77257706	Silent	SNP	A	TCGA-BA-4078-01A-01D-1434-08	36483150	77257706	63955725	255	1374											
IARS	3376	broad.mit.edu	37	chr9	95050422	95050422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acataccacaggtaagccatGgcaatcccatccaaatcttc	14	8	5	14	0	1	0	0	0	1	0	4	0	3	0	4	2	2	2	4	2	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:95050422G>T	ENST00000375643.3	-	3	528	c.262C>A	c.(262-264)Cat>Aat	p.H88N	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.H88N|IARS_ENST00000447699.2_Intron	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	88					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GGTAAGCCATGGCAATCCCAT	0.333													62	71					9.4991e-31	1.25558e-30	1	0	T	95050422	G	T	95050422	3	4	5	1	0	0	0	0	1	0	0	0	7526	1348	47	4	3654	4	IARS	9	95050422	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	17792716	95050422	46163009	256	1375											
NOL8	55035	broad.mit.edu	37	chr9	95077690	95077690	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaagaagttttcttcgtaGatttttccatttgtgaaaat	12	18	7	4	1	1	4	0	2	1	2	3	4	2	4	1	0	0	2	1	0	5	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:95077690G>C	ENST00000545558.1	-	7	1709	c.1217C>G	c.(1216-1218)tCt>tGt	p.S406C	NOL8_ENST00000542053.1_Missense_Mutation_p.S338C|NOL8_ENST00000442668.2_Missense_Mutation_p.S406C|NOL8_ENST00000358855.4_Missense_Mutation_p.S338C|NOL8_ENST00000535387.1_Missense_Mutation_p.S406C			Q76FK4	NOL8_HUMAN	nucleolar protein 8	406					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTTCTTCGTAGATTTTTCCAT	0.328													17	17					0	0	0	0	C	95077690	G	C	95077690	3	2	5	1	0	0	0	0	1	0	0	0	10597	942	33	2	2330	2	NOL8	9	95077690	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	27268	95077690	46135741	257	1376											
ZNF169	169841	broad.mit.edu	37	chr9	97055405	97055405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcagtgaggagctcagcaGgtaaggaaggaggggctatc	11	5	19	6	0	1	1	1	1	0	0	2	4	1	4	0	7	2	5	0	7	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:97055405G>T	ENST00000481550.2	+	3	365	c.310G>T	c.(310-312)Ggt>Tgt	p.G104C	ZNF169_ENST00000395395.2_Intron|ZNF169_ENST00000480716.1_Intron|ZNF169_ENST00000375354.4_Intron|ZNF169_ENST00000340911.4_Intron			Q14929	ZN169_HUMAN	zinc finger protein 169	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GAGCTCAGCAGGTAAGGAAGG	0.572													9	7					1.12685e-05	1.18529e-05	1	0	T	97055405	G	T	97055405	3	4	5	1	0	0	0	0	1	0	0	0	17837	1015	35	4		4	ZNF169	9	97055405	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1977715	97055405	44158026	258	1377											
ZNF782	158431	broad.mit.edu	37	chr9	99580614	99580614	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcttccccacaatgattaCatttatagggtttttcccct	10	15	5	11	0	0	1	0	1	0	0	2	1	2	1	4	1	2	2	4	1	5	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:99580614C>G	ENST00000481138.1	-	6	2352	c.1691G>C	c.(1690-1692)tGt>tCt	p.C564S	ZNF782_ENST00000535338.1_Missense_Mutation_p.C432S	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ACAATGATTACATTTATAGGG	0.413													156	254					0	0	0	0	G	99580614	C	G	99580614	3	3	5	1	0	0	0	0	1	0	0	0	18248	478	17	4	412	4	ZNF782	9	99580614	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2525209	99580614	41632817	259	1378											
RAD23B	5887	broad.mit.edu	37	chr9	110086243	110086243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aattattcagcagaatccttCcttgcttccagcgttactac	10	14	5	12	1	1	1	1	0	0	1	4	1	4	1	3	0	5	3	3	0	5	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:110086243C>T	ENST00000358015.3	+	8	1241	c.890C>T	c.(889-891)tCc>tTc	p.S297F	RAD23B_ENST00000416373.2_Missense_Mutation_p.S225F	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	297	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAGAATCCTTCCTTGCTTCCA	0.388								Direct reversal of damage;Nucleotide excision repair (NER)					79	111					0	0	0	0	T	110086243	C	T	110086243	3	4	5	1	0	0	0	0	1	0	0	0	13065	855	30	2	920	2	RAD23B	9	110086243	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	10505629	110086243	31127188	260	1379											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112898848	112898848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagaacagctagccggcagGcacctcctcacatcgagctc	12	5	9	15	2	1	1	1	0	0	1	4	2	2	1	3	2	4	4	3	2	3	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:112898848G>T	ENST00000374530.3	+	8	1204	c.1024G>T	c.(1024-1026)Gca>Tca	p.A342S	AKAP2_ENST00000259318.7_Missense_Mutation_p.A111S|AKAP2_ENST00000434623.2_Missense_Mutation_p.A200S|AKAP2_ENST00000374525.1_Missense_Mutation_p.A200S|AKAP2_ENST00000555236.1_Missense_Mutation_p.A342S|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A342S|AKAP2_ENST00000510514.5_Missense_Mutation_p.A342S	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		111							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TAGCCGGCAGGCACCTCCTCA	0.622													58	66					1.31171e-36	1.82291e-36	1	0	T	112898848	G	T	112898848	3	4	5	1	0	0	0	0	1	0	0	0	11481	1203	42	4	1054	4	PALM2-AKAP2	9	112898848	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2812605	112898848	28314583	261	1380											
SUSD1	64420	broad.mit.edu	37	chr9	114825256	114825256	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggctttcctcagtctgAggcgtggtagaggtcctctg	4	13	13	11	1	3	2	1	1	2	1	5	2	5	2	3	4	0	2	3	4	1	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:114825256A>G	ENST00000374270.3	-	13	1983	c.1811T>C	c.(1810-1812)cTc>cCc	p.L604P	SUSD1_ENST00000374264.2_Missense_Mutation_p.L604P|SUSD1_ENST00000374263.3_Missense_Mutation_p.L604P	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	604						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCTCAGTCTGAGGCGTGGTAG	0.478													3	234					0	0	0	0	G	114825256	A	G	114825256	3	3	5	1	0	0	0	0	1	0	0	0	15497	304	11	5	452	5	SUSD1	9	114825256	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	1926408	114825256	26388175	262	1381											
COL27A1	85301	broad.mit.edu	37	chr9	117050772	117050772	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaaggctgaggggccccCtgggccacctggagatcggg	6	4	18	13	2	0	2	0	1	0	1	1	3	0	2	4	7	0	2	4	7	1	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:117050772C>A	ENST00000356083.3	+	42	4416	c.4025C>A	c.(4024-4026)cCt>cAt	p.P1342H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1342	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GAGGGGCCCCCTGGGCCACCT	0.662													7	13					0.00448238	0.00458121	1	0	A	117050772	C	A	117050772	3	1	5	1	0	0	0	0	1	0	0	0	3715	681	24	4	4191	4	COL27A1	9	117050772	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2225516	117050772	24162659	263	1382											
TNC	3371	broad.mit.edu	37	chr9	117793913	117793913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgtgtagtgggtggatgGgctcaggtctgccaggctgt	4	11	19	7	0	2	0	1	0	1	0	2	1	2	1	1	6	1	4	1	6	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:117793913G>T	ENST00000350763.4	-	23	6250	c.5839C>A	c.(5839-5841)Cca>Aca	p.P1947T	TNC_ENST00000341037.4_Missense_Mutation_p.P1765T|TNC_ENST00000542877.1_Missense_Mutation_p.P1584T|TNC_ENST00000423613.2_Missense_Mutation_p.P1674T|TNC_ENST00000346706.3_Missense_Mutation_p.P1401T|TNC_ENST00000345230.3_Missense_Mutation_p.P1310T|TNC_ENST00000340094.3_Missense_Mutation_p.P1583T|TNC_ENST00000537320.1_Missense_Mutation_p.P1310T|TNC_ENST00000535648.1_Missense_Mutation_p.P1492T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1947	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGGGTGGATGGGCTCAGGTCT	0.512													78	117					2.72187e-29	3.56867e-29	1	0	T	117793913	G	T	117793913	3	4	5	1	0	0	0	0	1	0	0	0	16364	1232	43	4	790	4	TNC	9	117793913	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	743141	117793913	23419518	264	1383											
TLR4	7099	broad.mit.edu	37	chr9	120476539	120476539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccttcactacagagaCtttattcccggtgtggccat	7	13	8	13	1	2	1	1	0	1	1	3	2	3	1	3	2	2	0	3	2	2	5	rs56225594		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:120476539C>A	ENST00000355622.6	+	3	2234	c.2133C>A	c.(2131-2133)gaC>gaA	p.D711E	TLR4_ENST00000394487.4_Missense_Mutation_p.D671E|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	711	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ACTACAGAGACTTTATTCCCG	0.473													68	85					2.19297e-23	2.7265e-23	1	0	A	120476539	C	A	120476539	3	1	5	1	0	0	0	0	1	0	0	0	16047	564	20	4	2143	4	TLR4	9	120476539	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2682626	120476539	20736892	265	1384											
TMEM8C	389827	broad.mit.edu	37	chr9	136380685	136380685	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctatctgctgggtgtagacGctcttgtctgggtacaggcc	5	12	13	11	1	3	1	0	0	3	1	3	1	3	1	2	3	2	4	2	3	3	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:136380685G>A	ENST00000339996.3	-	4	545	c.444C>T	c.(442-444)agC>agT	p.S148S	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	148						integral to membrane		p.S148R(2)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GGGTGTAGACGCTCTTGTCTG	0.597													47	68					0	0	0	0	A	136380685	G	A	136380685	2	1	5	1	0	0	0	0	0	0	0	1	16310	1078	38	1		1	TMEM8C	9	136380685	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	15904146	136380685	4832746	266	1385											
GTPBP4	23560	broad.mit.edu	37	chr10	1034450	1034450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaacttcaagaaaattacgGtggtgccgtccgccaaggta	13	8	10	10	3	1	1	1	0	0	1	2	1	2	1	3	3	3	1	3	3	7	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:1034450G>T	ENST00000360803.4	+	1	113	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_5'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	11					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GAAAATTACGGTGGTGCCGTC	0.657													20	5					6.44725e-10	7.0561e-10	1	0	T	1034450	G	T	1034450	3	4	5	1	0	0	0	0	1	0	0	0	6932	1261	44	4	33	4	GTPBP4	10	1034450	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08		1034450	134500297	267	1386											
CUBN	8029	broad.mit.edu	37	chr10	17083215	17083215	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactattaccacattctcAcatgctggaaaaagaaatga	16	11	6	8	0	1	3	1	2	1	1	2	4	1	4	1	1	2	1	1	1	5	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:17083215A>C	ENST00000377833.4	-	27	3899	c.3834T>G	c.(3832-3834)tgT>tgG	p.C1278W		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1278	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCACATTCTCACATGCTGGAA	0.343													65	19					0	0	0	0	C	17083215	A	C	17083215	3	2	5	1	0	0	0	0	1	0	0	0	4083	157	6	5	7201	5	CUBN	10	17083215	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	16048765	17083215	118451532	268	1387											
CUBN	8029	broad.mit.edu	37	chr10	17142060	17142060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccatttcttaaatgttcaGaatagagatgaaaatagaga	17	12	7	5	0	2	4	1	1	1	3	3	6	3	4	1	0	0	1	1	0	7	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:17142060G>A	ENST00000377833.4	-	14	1774	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	570	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAATGTTCAGAATAGAGATG	0.418													105	36					0	0	0	0	A	17142060	G	A	17142060	3	1	5	1	0	0	0	0	1	0	0	0	4083	942	33	2	9378	2	CUBN	10	17142060	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	58845	17142060	118392687	269	1388											
GAD2	2572	broad.mit.edu	37	chr10	26512888	26512888	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcagactggctgacatCaacagcaaatactaacatgt	16	7	8	10	0	1	2	1	1	0	1	1	2	1	2	0	1	6	4	0	1	4	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:26512888C>A	ENST00000376261.3	+	5	1096	c.593C>A	c.(592-594)tCa>tAa	p.S198*	GAD2_ENST00000259271.3_Nonsense_Mutation_p.S198*|GAD2_ENST00000376248.1_Nonsense_Mutation_p.S84*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	198					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGGCTGACATCAACAGCAAAT	0.343													40	13					6.97489e-18	8.15622e-18	1	0	A	26512888	C	A	26512888	4	1	5	1	0	0	0	0	0	1	0	0	6228	838	29	2	611	2	GAD2	10	26512888	Nonsense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	9370828	26512888	109021859	270	1389											
RBP3	5949	broad.mit.edu	37	chr10	48388397	48388397	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagcgctggccggcgacctgGggcaaggtccacacctccgt	6	6	14	15	4	0	0	0	0	0	0	2	1	2	0	5	5	1	2	5	5	2	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:48388397G>T	ENST00000224600.4	-	1	2594	c.2481C>A	c.(2479-2481)ccC>ccA	p.P827P		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	827	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CGGCGACCTGGGGCAAGGTCC	0.612													14	8					7.93312e-07	8.41274e-07	1	0	T	48388397	G	T	48388397	2	4	5	1	0	0	0	0	0	0	0	1	13239	1219	43	4		4	RBP3	10	48388397	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	21875509	48388397	87146350	271	1390											
C10orf71	118461	broad.mit.edu	37	chr10	50532657	50532657	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagggaagcaggacttcaGaacacacatttgaaccagaa	17	5	11	8	0	1	4	1	1	0	3	1	7	1	6	1	2	3	1	1	2	4	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:50532657G>A	ENST00000374144.3	+	3	2355	c.2067G>A	c.(2065-2067)caG>caA	p.Q689Q	C10orf71_ENST00000323868.4_Silent_p.Q689Q			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	689								p.Q689Q(2)		endometrium(1)	1						CAGGACTTCAGAACACACATT	0.502													25	11					0	0	0	0	A	50532657	G	A	50532657	2	1	5	1	0	0	0	0	0	0	0	1	1624	933	33	2		2	C10orf71	10	50532657	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2144260	50532657	85002090	272	1391											
A1CF	29974	broad.mit.edu	37	chr10	52573752	52573752	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcctcgacccaggcctgtGtatgccaaatagccacggcc	9	8	9	15	2	0	0	0	0	0	0	2	1	1	0	6	2	2	1	6	2	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:52573752G>T	ENST00000395489.2	-	12	1587	c.1191C>A	c.(1189-1191)taC>taA	p.Y397*	A1CF_ENST00000373993.1_Nonsense_Mutation_p.Y404*|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Nonsense_Mutation_p.Y396*|A1CF_ENST00000395495.1_Nonsense_Mutation_p.Y349*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.Y404*|A1CF_ENST00000373997.3_Nonsense_Mutation_p.Y396*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.Y404*|A1CF_ENST00000493415.1_5'UTR	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	404	Required for nuclear localization.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCAGGCCTGTGTATGCCAAAT	0.483													94	30					2.08528e-44	3.03441e-44	1	0	T	52573752	G	T	52573752	4	4	5	1	0	0	0	0	0	1	0	0	2	1372	48	4	588	4	A1CF	10	52573752	Nonsense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2041095	52573752	82960995	273	1392											
PCDH15	65217	broad.mit.edu	37	chr10	55600188	55600188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggcatctccatgccggCgagctccaatggactccact	11	7	9	14	2	1	0	0	0	1	0	4	2	3	1	4	3	2	2	4	3	3	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:55600188C>A	ENST00000373965.2	-	30	4290	c.3896G>T	c.(3895-3897)cGc>cTc	p.R1299L	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1270L|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1299L|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1292L|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1221L|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1255L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1292L|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1297L|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1292L|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1292L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R903L|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1292					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCATGCCGGCGAGCTCCAAT	0.448										HNSCC(58;0.16)			76	15					5.32961e-40	7.56874e-40	1	0	A	55600188	C	A	55600188	3	1	5	1	0	0	0	0	1	0	0	0	11582	768	27	3	3631	3	PCDH15	10	55600188	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	3026436	55600188	79934559	274	1393											
CTNNA3	29119	broad.mit.edu	37	chr10	69281617	69281617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgctgacgtttgaaggCtaaataatccaaattttcca	13	13	6	9	1	0	2	0	2	0	0	2	2	2	2	3	1	2	3	3	1	6	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:69281617C>T	ENST00000433211.1	-	5	736	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	CTNNA3_ENST00000373744.4_Missense_Mutation_p.A188T|CTNNA3_ENST00000545309.1_Missense_Mutation_p.A188T	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	188					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CGTTTGAAGGCTAAATAATCC	0.478													43	23					0	0	0	0	T	69281617	C	T	69281617	3	4	5	1	0	0	0	0	1	0	0	0	4046	797	28	4	2181	4	CTNNA3	10	69281617	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	13681429	69281617	66253130	275	1394											
CNNM1	26507	broad.mit.edu	37	chr10	101120594	101120594	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctctgtgaccccacagctGacaatcggaaaaagcagagg	13	6	10	12	1	1	3	0	2	1	1	3	4	2	4	3	2	2	2	3	2	3	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:101120594G>C	ENST00000356713.4	+	3	2009	c.1720G>C	c.(1720-1722)Gac>Cac	p.D574H	CNNM1_ENST00000446890.1_Missense_Mutation_p.D503H|CNNM1_ENST00000370534.4_Missense_Mutation_p.D209H|CNNM1_ENST00000370528.3_Missense_Mutation_p.D503H	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	574					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CCCCACAGCTGACAATCGGAA	0.507													137	58					0	0	0	0	C	101120594	G	C	101120594	3	2	5	1	0	0	0	0	1	0	0	0	3642	1290	45	2	1730	2	CNNM1	10	101120594	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	31838977	101120594	34414153	276	1395											
ABCC2	1244	broad.mit.edu	37	chr10	101591439	101591439	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattcttcatcatccttgcGtttgtgatgaattctgtggc	7	18	8	8	1	4	2	2	2	2	0	5	2	5	2	1	1	1	1	1	1	2	6	rs139082536	byFrequency	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:101591439G>A	ENST00000370449.4	+	22	3068	c.2955G>A	c.(2953-2955)gcG>gcA	p.A985A		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	985	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.A985A(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCATCCTTGCGTTTGTGATGA	0.433													6	181					0	0	0	0	A	101591439	G	A	101591439	2	1	5	1	0	0	0	0	0	0	0	1	53	1132	40	1		1	ABCC2	10	101591439	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	470845	101591439	33943308	277	1396											
MGEA5	10724	broad.mit.edu	37	chr10	103558944	103558944	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgccattttcgcttcAacaatttcactcagtatttg	8	17	4	12	1	4	0	3	0	1	0	6	0	5	0	2	0	2	2	2	0	3	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:103558944A>C	ENST00000361464.3	-	9	1859	c.1464T>G	c.(1462-1464)gtT>gtG	p.V488V	MGEA5_ENST00000370094.3_Silent_p.V488V|MGEA5_ENST00000439817.1_Silent_p.V435V|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Silent_p.V435V	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	488					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTTTCGCTTCAACAATTTCAC	0.393													204	79					0	0	0	0	C	103558944	A	C	103558944	2	2	5	1	0	0	0	0	0	0	0	1	9624	117	5	5		5	MGEA5	10	103558944	Silent	SNP	A	TCGA-BA-4078-01A-01D-1434-08	1967505	103558944	31975803	278	1397											
NFKB2	4791	broad.mit.edu	37	chr10	104161253	104161253	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaacaccatggagccaccCctgaccccgcccagcccagc	10	2	8	21	1	0	2	0	1	0	1	0	3	0	3	8	1	4	0	8	1	1	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:104161253C>A	ENST00000369966.3	+	20	2521	c.2271C>A	c.(2269-2271)ccC>ccA	p.P757P	NFKB2_ENST00000189444.6_Silent_p.P757P|NFKB2_ENST00000428099.1_Silent_p.P757P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	757			Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TGGAGCCACCCCTGACCCCGC	0.597			T	IGH@	B-NHL								32	21					2.75727e-19	3.26546e-19	1	0	A	104161253	C	A	104161253	2	1	5	1	0	0	0	0	0	0	0	1	10446	610	22	4		4	NFKB2	10	104161253	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	602309	104161253	31373494	279	1398											
SORCS1	114815	broad.mit.edu	37	chr10	108427560	108427560	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgctcataaccatagtcGctgttaggaaagagccgaga	12	9	11	9	3	1	2	1	0	0	2	3	4	1	3	2	1	2	3	2	1	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:108427560G>T	ENST00000263054.6	-	17	2197	c.2189_splice	c.e17-1	p.C730_splice	SORCS1_ENST00000344440.6_Splice_Site_p.C730_splice|SORCS1_ENST00000369698.1_Splice_Site_p.C265_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	730						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AACCATAGTCGCTGTTAGGAA	0.453													21	4					2.32416e-17	2.69835e-17	1	0	T	108427560	G	T	108427560	5	4	5	1	0	0	0	0	0	0	1	0	15018	1101	38	3	1590	3	SORCS1	10	108427560	Splice_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	4266307	108427560	27107187	280	1399											
TCF7L2	6934	broad.mit.edu	37	chr10	114910775	114910775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggttccctccccatatggtCccaccacatcatacgctaca	10	9	5	17	1	1	0	1	0	0	0	4	0	4	0	5	2	2	2	5	2	3	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:114910775C>T	ENST00000545257.1	+	9	1401	c.894C>T	c.(892-894)gtC>gtT	p.V298V	TCF7L2_ENST00000352065.5_Silent_p.V275V|TCF7L2_ENST00000538897.1_Silent_p.V298V|TCF7L2_ENST00000543371.1_Silent_p.V298V|TCF7L2_ENST00000542695.1_Silent_p.V14V|TCF7L2_ENST00000536810.1_Silent_p.V298V|TCF7L2_ENST00000534894.1_Silent_p.V298V|TCF7L2_ENST00000355717.4_Silent_p.V322V|TCF7L2_ENST00000369397.4_Silent_p.V275V|TCF7L2_ENST00000369389.1_Silent_p.V9V|TCF7L2_ENST00000355995.4_Silent_p.V298V			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	298	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCCATATGGTCCCACCACATC	0.473			T	VTI1A	colorectal								59	19					0	0	0	0	T	114910775	C	T	114910775	2	4	5	1	0	0	0	0	0	0	0	1	15792	842	30	2		2	TCF7L2	10	114910775	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	6483215	114910775	20623972	281	1400											
ATRNL1	26033	broad.mit.edu	37	chr10	117045743	117045743	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagctcatctttgtggagaaGgatggagtcatattggggat	10	13	14	4	0	3	1	2	0	1	1	3	5	3	4	0	5	1	1	0	5	3	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:117045743G>T	ENST00000355044.3	+	15	2377	c.2251G>T	c.(2251-2253)Gga>Tga	p.G751*		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	751	PSI 3.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTGTGGAGAAGGATGGAGTCA	0.313													35	14					1.15505e-17	1.34583e-17	1	0	T	117045743	G	T	117045743	4	4	5	1	0	0	0	0	0	1	0	0	1211	1001	35	4	2309	4	ATRNL1	10	117045743	Nonsense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2134968	117045743	18489004	282	1401											
FAM196A	642938	broad.mit.edu	37	chr10	128974408	128974408	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcactgtcatgtatttgcgGtaggctgctctgcaggacac	7	11	13	10	1	2	0	1	0	1	0	2	1	2	1	0	4	3	6	0	4	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:128974408G>T	ENST00000522781.1	-	4	807	c.252C>A	c.(250-252)taC>taA	p.Y84*	FAM196A_ENST00000424811.2_Nonsense_Mutation_p.Y84*|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	84										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGTATTTGCGGTAGGCTGCTC	0.607													68	22					1.55545e-33	2.09872e-33	1	0	T	128974408	G	T	128974408	4	4	5	1	0	0	0	0	0	1	0	0	5571	1256	44	4	1199	4	FAM196A	10	128974408	Nonsense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	11928665	128974408	6560339	283	1402											
FRG2B	441581	broad.mit.edu	37	chr10	135438990	135438990	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgctgcgcccagtgcaagcCctggaacgtcccctatggtg	6	9	12	14	2	0	0	0	0	0	0	1	1	1	1	4	2	5	2	4	2	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:135438990C>T	ENST00000443774.1	-	4	502	c.453G>A	c.(451-453)agG>agA	p.R151R	FRG2B_ENST00000425520.1_Silent_p.R150R			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	150						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAGTGCAAGCCCTGGAACGTC	0.527													11	178					0	0	0	0	T	135438990	C	T	135438990	2	4	5	1	0	0	0	0	0	0	0	1	6095	622	22	4		4	FRG2B	10	135438990	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	6464582	135438990	95757	284	1403											
OR51F1	256892	broad.mit.edu	37	chr11	4790409	4790409	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaagcaactgctcccaCatgggagacacaggtgctga	14	5	12	10	0	0	3	0	1	0	2	1	5	1	3	1	2	4	3	1	2	3	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:4790409C>A	ENST00000380383.1	-	1	759	c.760G>T	c.(760-762)Gtg>Ttg	p.V254L	OR51F1_ENST00000343430.3_Missense_Mutation_p.V247L|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	247						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACTGCTCCCACATGGGAGACA	0.488													49	23					4.10826e-27	5.2902e-27	1	0	A	4790409	C	A	4790409	3	1	5	1	0	0	0	0	1	0	0	0	11167	478	17	4	202	4	OR51F1	11	4790409	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08		4790409	130216107	285	1404											
OR52B6	340980	broad.mit.edu	37	chr11	5602862	5602862	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcctcctttctcaagatgcCcgctccaaggccctgagtac	7	9	8	17	2	1	2	1	1	1	1	4	2	3	2	5	1	2	2	5	1	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:5602862C>A	ENST00000345043.2	+	1	756	c.756C>A	c.(754-756)gcC>gcA	p.A252A	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAAGATGCCCGCTCCAAGG	0.507													146	50					2.72662e-46	4.01264e-46	1	0	A	5602862	C	A	5602862	2	1	5	1	0	0	0	0	0	0	0	1	11184	610	22	4		4	OR52B6	11	5602862	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	812453	5602862	129403654	286	1405											
DNHD1	144132	broad.mit.edu	37	chr11	6592373	6592373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgacctcatgcgccggccgGtccgcagccgccctggcact	4	5	13	19	6	1	0	1	0	0	0	2	1	2	0	6	3	2	2	6	3	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:6592373G>A	ENST00000254579.6	+	42	14195	c.13631G>A	c.(13630-13632)gGt>gAt	p.G4544D	DNHD1_ENST00000527990.2_Missense_Mutation_p.G4544D	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4544					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCGCCGGCCGGTCCGCAGCCG	0.706													12	3					0	0	0	0	A	6592373	G	A	6592373	3	1	5	1	0	0	0	0	1	0	0	0	4704	1261	44	4	13798	4	DNHD1	11	6592373	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	989511	6592373	128414143	287	1406											
NLRP10	338322	broad.mit.edu	37	chr11	7982797	7982797	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccaggagcacctggttgTatctgccattgactcctgct	7	11	9	14	0	1	1	0	1	1	0	2	2	2	2	5	2	3	4	5	2	1	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:7982797T>C	ENST00000328600.2	-	2	523	c.362A>G	c.(361-363)tAc>tGc	p.Y121C		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	121							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACCTGGTTGTATCTGCCATT	0.557													50	31					0	0	0	0	C	7982797	T	C	7982797	3	2	5	1	0	0	0	0	1	0	0	0	10542	1638	57	5	1609	5	NLRP10	11	7982797	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	1390424	7982797	127023719	288	1407											
FAR1	84188	broad.mit.edu	37	chr11	13716315	13716315	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcttaggatcaaaatGgtttcaatcccagaatacta	13	15	6	7	0	3	1	2	0	1	1	4	2	4	2	1	2	1	2	1	2	7	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:13716315G>A	ENST00000354817.3	+	2	147	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	1					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GGATCAAAATGGTTTCAATCC	0.373													42	21					0	0	0	0	A	13716315	G	A	13716315	1	1	5	1	0	0	0	0	0	0	0	0	5719	1348	47	4		4	FAR1	11	13716315	Translation_Start_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	5733518	13716315	121290201	289	1408											
FANCF	2188	broad.mit.edu	37	chr11	22646835	22646835	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggccttccccacctcctgCagacgctccagcagcagctc	6	7	8	20	2	0	1	0	0	0	1	5	1	3	1	6	1	4	5	6	1	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:22646835C>A	ENST00000327470.3	-	1	552	c.522G>T	c.(520-522)ctG>ctT	p.L174L		NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	174					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						CCACCTCCTGCAGACGCTCCA	0.602			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	175					0.150653	0.152296	1	0	A	22646835	C	A	22646835	2	1	5	1	0	0	0	0	0	0	0	1	5712	697	25	4		4	FANCF	11	22646835	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	8930520	22646835	112359681	290	1409											
ABTB2	25841	broad.mit.edu	37	chr11	34219030	34219030	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggcagggctggcaccCgggcacagggggtgacgccc	5	3	20	13	3	0	1	0	1	0	0	0	1	0	1	2	7	0	4	2	7	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:34219030C>T	ENST00000435224.2	-	3	1510	c.1086G>A	c.(1084-1086)ccG>ccA	p.P362P	ABTB2_ENST00000298992.2_Silent_p.P176P|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	176							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGCTGGCACCCGGGCACAGGG	0.672													23	11					0	0	0	0	T	34219030	C	T	34219030	2	4	5	1	0	0	0	0	0	0	0	1	103	639	23	1		1	ABTB2	11	34219030	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	11572195	34219030	100787486	291	1410											
LRRC4C	57689	broad.mit.edu	37	chr11	40136241	40136241	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccatgagtgtgatggcCacaaaacacccaatgatgat	14	7	10	10	0	0	4	0	4	0	0	0	4	0	4	3	1	2	1	3	1	3	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:40136241C>A	ENST00000278198.2	-	2	3565	c.1602G>T	c.(1600-1602)gtG>gtT	p.V534V	LRRC4C_ENST00000528697.1_Silent_p.V534V|LRRC4C_ENST00000527150.1_Silent_p.V534V|LRRC4C_ENST00000530763.1_Silent_p.V534V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	534					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGTGATGGCCACAAAACACC	0.463													61	16					1.74971e-23	2.18377e-23	1	0	A	40136241	C	A	40136241	2	1	5	1	0	0	0	0	0	0	0	1	9072	581	21	4		4	LRRC4C	11	40136241	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	5917211	40136241	94870275	292	1411											
PHF21A	51317	broad.mit.edu	37	chr11	45970965	45970965	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaatacctctggctcaaaGactgctccactgtagaccgg	11	9	9	12	1	2	2	1	0	1	2	3	2	3	2	3	2	2	4	3	2	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:45970965G>A	ENST00000257821.4	-	12	1838	c.1215C>T	c.(1213-1215)gtC>gtT	p.V405V	PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000323180.6_Silent_p.V405V|PHF21A_ENST00000418153.2_Silent_p.V404V	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	404					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CTGGCTCAAAGACTGCTCCAC	0.458													103	540					0	0	0	0	A	45970965	G	A	45970965	2	1	5	1	0	0	0	0	0	0	0	1	11905	929	33	2		2	PHF21A	11	45970965	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	5834724	45970965	89035551	293	1412											
OR4C3	256144	broad.mit.edu	37	chr11	48347133	48347133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctttgctggaagttgcctGcaccaatacgtatgtcattg	8	13	9	11	1	1	0	1	0	0	0	1	1	1	1	3	1	4	4	3	1	4	5	rs139158085		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:48347133G>T	ENST00000319856.4	+	1	662	c.641G>T	c.(640-642)tGc>tTc	p.C214F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAAGTTGCCTGCACCAATACG	0.502													60	91					2.44813e-32	3.2625e-32	1	0	T	48347133	G	T	48347133	3	4	5	1	0	0	0	0	1	0	0	0	11121	1319	46	4	643	4	OR4C3	11	48347133	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2376168	48347133	86659383	294	1413											
FOLH1	2346	broad.mit.edu	37	chr11	49197499	49197499	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatctggtggtgctgagcCacccatttttctattggaca	7	14	10	10	0	2	1	0	1	2	0	2	2	2	2	2	3	2	2	2	3	2	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:49197499C>A	ENST00000340334.7	-	9	1254	c.886G>T	c.(886-888)Ggc>Tgc	p.G296C	FOLH1_ENST00000343844.4_Missense_Mutation_p.G3C|FOLH1_ENST00000356696.3_Missense_Mutation_p.G311C|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000256999.2_Missense_Mutation_p.G311C|FOLH1_ENST00000533034.1_Missense_Mutation_p.G296C	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	311	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GGTGCTGAGCCACCCATTTTT	0.393													62	88					8.52622e-23	1.054e-22	1	0	A	49197499	C	A	49197499	3	1	5	1	0	0	0	0	1	0	0	0	6024	594	21	4	1369	4	FOLH1	11	49197499	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	850366	49197499	85809017	295	1414											
FOLH1	2346	broad.mit.edu	37	chr11	49207359	49207359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcaaagtagtcagcagggtCggagtagagaatgactcctt	13	8	13	7	1	1	2	1	1	0	1	3	4	2	3	1	2	2	4	1	2	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:49207359C>G	ENST00000340334.7	-	7	1011	c.643G>C	c.(643-645)Gac>Cac	p.D215H	FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Missense_Mutation_p.D230H|FOLH1_ENST00000256999.2_Missense_Mutation_p.D230H|FOLH1_ENST00000533034.1_Missense_Mutation_p.D215H	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	230					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCAGCAGGGTCGGAGTAGAGA	0.458													28	53					0	0	0	0	G	49207359	C	G	49207359	3	3	5	1	0	0	0	0	1	0	0	0	6024	884	31	3	1620	3	FOLH1	11	49207359	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	9860	49207359	85799157	296	1415											
OR8K5	219453	broad.mit.edu	37	chr11	55927730	55927730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaaggggaatctgcagctCaggccgccttgtgagttcca	11	8	12	10	1	2	1	1	1	1	0	3	2	3	2	3	3	2	3	3	3	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:55927730C>T	ENST00000313447.1	-	1	63	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATCTGCAGCTCAGGCCGCCTT	0.453													75	120					0	0	0	0	T	55927730	C	T	55927730	3	4	5	1	0	0	0	0	1	0	0	0	11316	835	29	2	862	2	OR8K5	11	55927730	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	6720371	55927730	79078786	297	1416											
OR5J2	282775	broad.mit.edu	37	chr11	55944604	55944604	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagactgtccttttgtaggCtaaatgctgtcagccacttc	8	13	10	10	0	1	1	1	0	0	1	3	2	2	1	2	2	2	3	2	2	3	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:55944604C>T	ENST00000312298.1	+	1	511	c.511C>T	c.(511-513)Cta>Tta	p.L171L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTTTTGTAGGCTAAATGCTGT	0.438													73	114					0	0	0	0	T	55944604	C	T	55944604	2	4	5	1	0	0	0	0	0	0	0	1	11236	796	28	4		4	OR5J2	11	55944604	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	16874	55944604	79061912	298	1417											
OR5M8	219484	broad.mit.edu	37	chr11	56258412	56258412	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatacacataaggcacCgtgatgaggaaggagcacac	14	5	11	11	1	0	2	0	2	0	0	1	4	1	4	2	3	2	3	2	3	3	2	rs147351186		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:56258412C>A	ENST00000327216.2	-	1	459	c.435G>T	c.(433-435)acG>acT	p.T145T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CATAAGGCACCGTGATGAGGA	0.517													43	83					6.5261e-18	7.6452e-18	1	0	A	56258412	C	A	56258412	2	1	5	1	0	0	0	0	0	0	0	1	11247	639	23	3		3	OR5M8	11	56258412	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	313808	56258412	78748104	299	1418											
OR5M10	390167	broad.mit.edu	37	chr11	56344286	56344286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaaggattttcccctaatCatttgttgtatggcaaggat	12	14	8	7	0	1	0	1	0	0	0	2	2	2	2	2	3	0	3	2	3	5	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:56344286C>T	ENST00000526812.2	-	1	977	c.912G>A	c.(910-912)atG>atA	p.M304I		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TTCCCCTAATCATTTGTTGTA	0.373													159	217					0	0	0	0	T	56344286	C	T	56344286	3	4	5	1	0	0	0	0	1	0	0	0	11244	826	29	2	39	2	OR5M10	11	56344286	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	85874	56344286	78662230	300	1419											
PRG2	5553	broad.mit.edu	37	chr11	57156719	57156719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggtctcctccatctcctGctctggtgtctcctcatcct	3	14	8	16	0	5	0	1	0	4	0	10	0	7	0	5	3	1	1	5	3	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:57156719G>T	ENST00000311862.5	-	3	203	c.130C>A	c.(130-132)Cag>Aag	p.Q44K	RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.Q149K|PRG2_ENST00000525955.1_Missense_Mutation_p.Q44K|PRG2_ENST00000533605.1_Missense_Mutation_p.Q44K	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)		TCCATCTCCTGCTCTGGTGTC	0.562													74	86					4.60868e-44	6.69135e-44	1	0	T	57156719	G	T	57156719	3	4	5	1	0	0	0	0	1	0	0	0	12559	1328	46	4	554	4	PRG2	11	57156719	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	812433	57156719	77849797	301	1420											
CTNND1	1500	broad.mit.edu	37	chr11	57569636	57569636	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgattgcttcgaaaggCtcgtgatatggaccttactg	8	13	12	8	3	0	1	0	1	0	0	2	4	0	2	1	2	3	2	1	2	3	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:57569636C>A	ENST00000524630.1	+	7	1901	c.1388C>A	c.(1387-1389)gCt>gAt	p.A463D	CTNND1_ENST00000529919.1_Missense_Mutation_p.A463D|CTNND1_ENST00000529986.1_Missense_Mutation_p.A362D|CTNND1_ENST00000531014.1_Missense_Mutation_p.A140D|CTNND1_ENST00000526357.1_Missense_Mutation_p.A409D|CTNND1_ENST00000532245.1_Missense_Mutation_p.A362D|CTNND1_ENST00000361332.4_Missense_Mutation_p.A463D|CTNND1_ENST00000532649.1_Missense_Mutation_p.A409D|CTNND1_ENST00000529873.1_Missense_Mutation_p.A409D|CTNND1_ENST00000526772.1_Missense_Mutation_p.A140D|CTNND1_ENST00000528621.1_Missense_Mutation_p.A409D|CTNND1_ENST00000428599.2_Missense_Mutation_p.A463D|CTNND1_ENST00000399050.4_Missense_Mutation_p.A463D|CTNND1_ENST00000526938.1_Missense_Mutation_p.A463D|CTNND1_ENST00000533667.1_Missense_Mutation_p.A140D|CTNND1_ENST00000415361.2_Missense_Mutation_p.A362D|CTNND1_ENST00000399039.4_Missense_Mutation_p.A463D|CTNND1_ENST00000358694.6_Missense_Mutation_p.A463D|CTNND1_ENST00000361391.6_Missense_Mutation_p.A463D|CTNND1_ENST00000530748.1_Missense_Mutation_p.A409D|CTNND1_ENST00000527467.1_Missense_Mutation_p.A140D|CTNND1_ENST00000360682.6_Missense_Mutation_p.A463D|CTNND1_ENST00000525902.1_Missense_Mutation_p.A140D|CTNND1_ENST00000530094.1_Missense_Mutation_p.A362D|CTNND1_ENST00000529526.1_Missense_Mutation_p.A409D|CTNND1_ENST00000528232.1_Missense_Mutation_p.A362D|CTNND1_ENST00000534579.1_Missense_Mutation_p.A409D|CTNND1_ENST00000532844.1_Missense_Mutation_p.A409D|CTNND1_ENST00000426142.2_Missense_Mutation_p.A362D|CTNND1_ENST00000532463.1_Missense_Mutation_p.A362D|CTNND1_ENST00000532787.1_Missense_Mutation_p.A362D|CTNND1_ENST00000361796.4_Missense_Mutation_p.A463D			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	463					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTTCGAAAGGCTCGTGATATG	0.443													160	294					2.83121e-50	4.22403e-50	1	0	A	57569636	C	A	57569636	3	1	5	1	0	0	0	0	1	0	0	0	4051	797	28	4	1406	4	CTNND1	11	57569636	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	412917	57569636	77436880	302	1421											
OR5AN1	390195	broad.mit.edu	37	chr11	59132216	59132216	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcaaactatcactttTgttggttgtattattcagta	12	16	7	6	0	2	0	2	0	0	0	2	1	2	0	0	1	3	5	0	1	6	9			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:59132216T>C	ENST00000313940.2	+	1	332	c.285T>C	c.(283-285)ttT>ttC	p.F95F		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTATCACTTTTGTTGGTTGTA	0.423													158	229					0	0	0	0	C	59132216	T	C	59132216	2	2	5	1	0	0	0	0	0	0	0	1	11214	1809	63	5		5	OR5AN1	11	59132216	Silent	SNP	T	TCGA-BA-4078-01A-01D-1434-08	1562580	59132216	75874300	303	1422											
OR5A2	219981	broad.mit.edu	37	chr11	59189575	59189575	+	Silent	SNP	G	G	T																															tagatgatgggattcaccacGgggatcaccaaggcatagaa																								rs150394868		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:59189575G>T	ENST00000302040.4	-	1	874	c.852C>A	c.(850-852)ccC>ccA	p.P284P		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P284P(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GATTCACCACGGGGATCACCA	0.473													55	66					6.4308e-24	8.08835e-24	1	0	T	59189575	G	T	59189575	2	4	5	1	0	0	0	0	0	0	0	1	11211	1103	39	3		3	OR5A2	11	59189575	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	57359	59189575	75816941	304	1423	24	2									
OR5A2	219981	broad.mit.edu	37	chr11	59189576	59189576	+	Missense_Mutation	SNP	G	G	T																															agatgatgggattcaccacgGggatcaccaaggcatagaat																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:59189576G>T	ENST00000302040.4	-	1	873	c.851C>A	c.(850-852)cCc>cAc	p.P284H		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ATTCACCACGGGGATCACCAA	0.478													56	68					1.17673e-23	1.47432e-23	1	0	T	59189576	G	T	59189576	3	4	5	1	0	0	0	0	1	0	0	0	11211	1232	43	4	125	4	OR5A2	11	59189576	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1	59189576	75816940	305	1424	24	2									
SLC15A3	51296	broad.mit.edu	37	chr11	60718768	60718768	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagccgcccacgggcgccaGcaggtaggaggcgcccagga	8	1	16	16	4	0	0	0	0	0	0	0	2	0	2	5	5	2	2	5	5	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:60718768G>A	ENST00000227880.3	-	1	489	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	86					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						ACGGGCGCCAGCAGGTAGGAG	0.716													4	4					0	0	0	0	A	60718768	G	A	60718768	2	1	5	1	0	0	0	0	0	0	0	1	14488	962	34	4		4	SLC15A3	11	60718768	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1529192	60718768	74287748	306	1425											
SCGB2A1	4246	broad.mit.edu	37	chr11	61977990	61977990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagttcatagacagtgatgCcgctgcagaggctatgggga	11	8	15	7	1	1	4	1	1	0	3	1	5	1	5	1	3	2	4	1	3	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:61977990C>T	ENST00000244930.4	+	2	225	c.161C>T	c.(160-162)gCc>gTc	p.A54V		NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	54						extracellular region	androgen binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						GACAGTGATGCCGCTGCAGAG	0.428													5	250					0	0	0	0	T	61977990	C	T	61977990	3	4	5	1	0	0	0	0	1	0	0	0	13985	739	26	4	167	4	SCGB2A1	11	61977990	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	1259222	61977990	73028526	307	1426											
POLR2G	5436	broad.mit.edu	37	chr11	62533149	62533149	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgattcagcaggacgatGagatccgcttaaagattgtg	11	12	12	6	2	1	3	1	2	0	2	2	6	2	4	1	1	1	2	1	1	2	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:62533149G>T	ENST00000301788.7	+	6	529	c.424G>T	c.(424-426)Gag>Tag	p.E142*		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	142					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding			lung(3)	3						GCAGGACGATGAGATCCGCTT	0.468													67	100					3.41413e-29	4.46728e-29	1	0	T	62533149	G	T	62533149	4	4	5	1	0	0	0	0	0	1	0	0	12292	1291	45	2	446	2	POLR2G	11	62533149	Nonsense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	555159	62533149	72473367	308	1427											
ATG2A	23130	broad.mit.edu	37	chr11	64668018	64668018	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgcccgctgccccccTgcgtgcgccatgagttctgg	2	8	13	18	4	1	1	0	1	1	0	1	1	1	1	6	1	4	3	6	1	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:64668018T>C	ENST00000421419.2	-	31	4532	c.4418A>G	c.(4417-4419)cAg>cGg	p.Q1473R	ATG2A_ENST00000377264.3_Missense_Mutation_p.Q1471R			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1471							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCTGCCCCCCTGCGTGCGCCA	0.642													69	102					0	0	0	0	C	64668018	T	C	64668018	3	2	5	1	0	0	0	0	1	0	0	0	1097	1580	55	5	1448	5	ATG2A	11	64668018	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	2134869	64668018	70338498	309	1428											
RIN1	9610	broad.mit.edu	37	chr11	66103108	66103108	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtaggcacagatgagcTggactaggtctgggaacatg	11	7	16	7	0	1	2	0	1	1	1	1	4	1	4	0	5	2	4	0	5	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:66103108T>A	ENST00000311320.4	-	4	554	c.428A>T	c.(427-429)cAg>cTg	p.Q143L	RIN1_ENST00000530056.1_Missense_Mutation_p.Q38L|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.Q38L	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	143	SH2.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						ACAGATGAGCTGGACTAGGTC	0.642													19	20					0	0	0	0	A	66103108	T	A	66103108	3	1	5	1	0	0	0	0	1	0	0	0	13456	1580	55	5	1951	5	RIN1	11	66103108	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	1435090	66103108	68903408	310	1429											
CTTN	2017	broad.mit.edu	37	chr11	70281737	70281737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agagtctcactgctggggagGagaggactgggcctgatgga	9	7	18	7	0	1	3	1	1	1	2	2	7	1	6	1	6	1	1	1	6	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:70281737G>C	ENST00000376561.3	+	18	1836	c.1665G>C	c.(1663-1665)agG>agC	p.R555S	CTTN_ENST00000301843.8_3'UTR|CTTN_ENST00000538675.1_Missense_Mutation_p.R276S|CTTN_ENST00000346329.3_3'UTR	NM_001184740.1	NP_001171669.1	Q14247	SRC8_HUMAN	cortactin	0						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGCTGGGGAGGAGAGGACTGG	0.597													10	274					0	0	0	0	C	70281737	G	C	70281737	3	2	5	1	0	0	0	0	1	0	0	0	4076	1165	41	2	1885	2	CTTN	11	70281737	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	4178629	70281737	64724779	311	1430											
SHANK2	22941	broad.mit.edu	37	chr11	70333064	70333064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggtggccccaggcccaCatcctcatcccccaggtctg	5	6	12	18	1	2	0	1	0	1	0	4	0	4	0	6	5	0	0	6	5	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:70333064C>A	ENST00000338508.4	-	32	3336	c.3337G>T	c.(3337-3339)Gtg>Ttg	p.V1113L	SHANK2_ENST00000449833.2_Missense_Mutation_p.V517L|SHANK2_ENST00000409161.1_Missense_Mutation_p.V516L|SHANK2_ENST00000423696.2_Missense_Mutation_p.V733L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	733					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCAGGCCCACATCCTCATCC	0.692													38	846					5.43694e-19	6.42727e-19	1	0	A	70333064	C	A	70333064	3	1	5	1	0	0	0	0	1	0	0	0	14353	478	17	4	2223	4	SHANK2	11	70333064	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	51327	70333064	64673452	312	1431											
MAP6	4135	broad.mit.edu	37	chr11	75319187	75319187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgaagggttcgctgtagagGctgcgtattcttctgcgatc	6	14	13	8	3	2	2	0	1	2	1	4	3	2	2	0	2	2	5	0	2	3	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:75319187G>C	ENST00000434603.2	-	2	1150	c.1086C>G	c.(1084-1086)agC>agG	p.S362R	MAP6_ENST00000304771.3_Missense_Mutation_p.S362R|MAP6_ENST00000526740.1_Missense_Mutation_p.S33R	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	362	Calmodulin-binding (By similarity).					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CGCTGTAGAGGCTGCGTATTC	0.512													56	25					0	0	0	0	C	75319187	G	C	75319187	3	2	5	1	0	0	0	0	1	0	0	0	9333	1194	42	4	1371	4	MAP6	11	75319187	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	4986123	75319187	59687329	313	1432											
GRM5	2915	broad.mit.edu	37	chr11	88781022	88781022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaaagtaagactgacaGgatcaacagaaggaccattt	17	9	8	7	0	2	3	2	1	0	2	2	5	2	5	1	2	1	1	1	2	5	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:88781022G>A	ENST00000418177.2	-	2	386	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	GRM5_ENST00000455756.2_Silent_p.L7L|GRM5_ENST00000393297.1_Silent_p.L7L|GRM5_ENST00000305447.4_Silent_p.L7L|GRM5_ENST00000393294.3_Silent_p.L7L|GRM5_ENST00000305432.5_Silent_p.L7L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	7					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AAGACTGACAGGATCAACAGA	0.473													23	16					0	0	0	0	A	88781022	G	A	88781022	2	1	5	1	0	0	0	0	0	0	0	1	6850	991	35	4		4	GRM5	11	88781022	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	13461835	88781022	46225494	314	1433											
MTNR1B	4544	broad.mit.edu	37	chr11	92714792	92714792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaatatcactgccatcGccattaaccgctactgctac	10	12	4	15	2	3	0	2	0	1	0	4	0	3	0	3	0	5	2	3	0	5	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:92714792G>C	ENST00000257068.2	+	2	409	c.403G>C	c.(403-405)Gcc>Ccc	p.A135P		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	135					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CACTGCCATCGCCATTAACCG	0.597													48	11					0	0	0	0	C	92714792	G	C	92714792	3	2	5	1	0	0	0	0	1	0	0	0	10022	1087	38	3	409	3	MTNR1B	11	92714792	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3933770	92714792	42291724	315	1434											
MMP10	4319	broad.mit.edu	37	chr11	102647451	102647451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttcagtgttggctgagtGaaagagccccagggagtggc	9	8	16	8	0	1	3	1	2	0	1	1	4	1	4	2	3	2	3	2	3	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:102647451G>A	ENST00000279441.4	-	5	715	c.679C>T	c.(679-681)Cac>Tac	p.H227Y		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	227					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TTGGCTGAGTGAAAGAGCCCC	0.463													61	22					0	0	0	0	A	102647451	G	A	102647451	3	1	5	1	0	0	0	0	1	0	0	0	9718	1290	45	2	775	2	MMP10	11	102647451	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	9932659	102647451	32359065	316	1435											
MMP12	4321	broad.mit.edu	37	chr11	102742585	102742585	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcctgtgttaatcttgcTgaatttcaagggggtaacat	10	14	10	7	0	2	1	1	1	1	0	2	1	2	1	1	2	3	3	1	2	4	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:102742585T>A	ENST00000532855.1	-	0	544							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TTAATCTTGCTGAATTTCAAG	0.418													30	2					0	0	0	0	A	102742585	T	A	102742585	1	1	5	0	1	0	0	0	0	0	0	0	9720	1580	55	5		5	MMP12	11	102742585	RNA	SNP	T	TCGA-BA-4078-01A-01D-1434-08	95134	102742585	32263931	317	1436											
ATM	472	broad.mit.edu	37	chr11	108213984	108213984	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcgaagtggtgttcttgaAtggtgcacaggaactgtccc	9	10	13	9	1	1	1	0	1	1	0	2	3	2	2	1	3	3	2	1	3	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:108213984A>G	ENST00000278616.4	+	57	8689	c.8304A>G	c.(8302-8304)gaA>gaG	p.E2768E	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Silent_p.E2768E	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2768	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTGTTCTTGAATGGTGCACAG	0.403			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			158	56					0	0	0	0	G	108213984	A	G	108213984	2	3	5	1	0	0	0	0	0	0	0	1	1113	98	4	5		5	ATM	11	108213984	Silent	SNP	A	TCGA-BA-4078-01A-01D-1434-08	5471399	108213984	26792532	318	1437											
NNMT	4837	broad.mit.edu	37	chr11	114168790	114168790	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactactcagaccagaaccTgcaggagctggagaagtggc	12	6	13	10	0	1	4	1	1	0	3	1	6	1	5	2	3	4	2	2	3	3	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:114168790T>A	ENST00000535401.1	+	4	536	c.272T>A	c.(271-273)cTg>cAg	p.L91Q	NNMT_ENST00000299964.3_Missense_Mutation_p.L91Q|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000541754.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	91					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GACCAGAACCTGCAGGAGCTG	0.517													73	24					0	0	0	0	A	114168790	T	A	114168790	3	1	5	1	0	0	0	0	1	0	0	0	10579	1580	55	5	278	5	NNMT	11	114168790	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	5954806	114168790	20837726	319	1438											
TMPRSS13	84000	broad.mit.edu	37	chr11	117785164	117785164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccccgtcacagcgaacagCgtgcttgggacagctctccc	8	6	10	17	3	2	0	1	0	1	0	3	2	2	1	3	1	5	2	3	1	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:117785164C>T	ENST00000528626.1	-	3	590	c.517G>A	c.(517-519)Gct>Act	p.A173T	TMPRSS13_ENST00000430170.2_Missense_Mutation_p.A208T|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A208T|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A208T|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A208T	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	203					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CAGCGAACAGCGTGCTTGGGA	0.617													205	77					0	0	0	0	T	117785164	C	T	117785164	3	4	5	1	0	0	0	0	1	0	0	0	16339	768	27	1	1121	1	TMPRSS13	11	117785164	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	3616374	117785164	17221352	320	1439											
BSX	390259	broad.mit.edu	37	chr11	122850115	122850115	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggcggcggcagtgcttccCcggcagctccgcgtgctgcg	2	6	17	16	7	0	0	0	0	0	0	2	0	2	0	3	4	4	5	3	4	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:122850115C>A	ENST00000343035.2	-	2	361	c.313G>T	c.(313-315)Ggg>Tgg	p.G105W		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	105										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CAGTGCTTCCCCGGCAGCTCC	0.667													31	14					4.02929e-09	4.35835e-09	1	0	A	122850115	C	A	122850115	3	1	5	1	0	0	0	0	1	0	0	0	1543	623	22	4	395	4	BSX	11	122850115	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	5064951	122850115	12156401	321	1440											
OR8B4	283162	broad.mit.edu	37	chr11	124294721	124294721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctctggctgttctgataatCccacaaggataaactcagtc	11	11	8	11	0	3	1	1	1	2	0	5	2	4	2	1	2	1	3	1	2	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:124294721C>A	ENST00000356130.3	-	1	68	c.47G>T	c.(46-48)gGa>gTa	p.G16V		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCTGATAATCCCACAAGGAT	0.473													34	9					6.70999e-13	7.53422e-13	1	0	A	124294721	C	A	124294721	3	1	5	1	0	0	0	0	1	0	0	0	11300	855	30	2	884	2	OR8B4	11	124294721	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	1444606	124294721	10711795	322	1441											
KCNJ1	3758	broad.mit.edu	37	chr11	128709976	128709976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtatctccacttgaggtCaagtaccgttgtccagatgt	8	15	9	9	1	2	2	1	1	1	1	4	2	3	2	3	1	1	3	3	1	3	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:128709976C>G	ENST00000392665.2	-	2	307	c.163G>C	c.(163-165)Gac>Cac	p.D55H	KCNJ1_ENST00000392666.1_Missense_Mutation_p.D55H|KCNJ1_ENST00000440599.2_Missense_Mutation_p.D55H|KCNJ1_ENST00000324036.3_Missense_Mutation_p.D55H|KCNJ1_ENST00000392664.2_Missense_Mutation_p.D74H	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	74					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CACTTGAGGTCAAGTACCGTT	0.433													103	49					0	0	0	0	G	128709976	C	G	128709976	3	3	5	1	0	0	0	0	1	0	0	0	8096	826	29	2	959	2	KCNJ1	11	128709976	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	4415255	128709976	6296540	323	1442											
IGSF9B	22997	broad.mit.edu	37	chr11	133802070	133802070	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggatccccacgggcaCgtaaatcacagggggcatgt	10	6	13	12	2	1	0	1	0	0	0	2	1	2	1	3	4	0	3	3	4	2	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:133802070C>G	ENST00000321016.8	-	8	1236	c.1006G>C	c.(1006-1008)Gtg>Ctg	p.V336L	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V336L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	336	Ig-like 4.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCCACGGGCACGTAAATCACA	0.607													8	2					0	0	0	0	G	133802070	C	G	133802070	3	3	5	1	0	0	0	0	1	0	0	0	7659	536	19	3	3091	3	IGSF9B	11	133802070	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	5092094	133802070	1204446	324	1443											
ITFG2	55846	broad.mit.edu	37	chr12	2929961	2929961	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctcagccaggttgtgcGtatgcaattctactgtgtac	7	14	11	9	1	2	0	1	0	2	0	3	0	2	0	1	1	5	4	1	1	4	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:2929961G>A	ENST00000228799.2	+	6	757	c.618G>A	c.(616-618)gcG>gcA	p.A206A	ITFG2_ENST00000542548.1_Silent_p.A94A|ITFG2_ENST00000419778.2_Silent_p.A29A	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	206										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CAGGTTGTGCGTATGCAATTC	0.562													38	63					0	0	0	0	A	2929961	G	A	2929961	2	1	5	1	0	0	0	0	0	0	0	1	7923	1132	40	1		1	ITFG2	12	2929961	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08		2929961	130921934	325	1444											
CDCA3	83461	broad.mit.edu	37	chr12	6958258	6958258	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttgtcatggtcctggccTtgctcccatgctcgtcctcc	2	14	8	17	1	1	0	1	0	0	0	7	0	6	0	6	2	2	2	6	2	0	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:6958258T>C	ENST00000538862.2	-	6	1657	c.756A>G	c.(754-756)caA>caG	p.Q252Q	CDCA3_ENST00000229265.6_Silent_p.Q227Q|CDCA3_ENST00000535406.1_Silent_p.Q252Q|CDCA3_ENST00000540683.1_3'UTR|CDCA3_ENST00000422785.3_Intron			Q99618	CDCA3_HUMAN	cell division cycle associated 3	252					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						GGTCCTGGCCTTGCTCCCATG	0.532													50	52					0	0	0	0	C	6958258	T	C	6958258	2	2	5	1	0	0	0	0	0	0	0	1	3116	1606	56	5		5	CDCA3	12	6958258	Silent	SNP	T	TCGA-BA-4078-01A-01D-1434-08	4028297	6958258	126893637	326	1445											
CLSTN3	9746	broad.mit.edu	37	chr12	7294733	7294733	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagtacagacaccacccAaggtactccgtgtgtaagaa	15	6	8	12	1	0	2	0	0	0	2	1	2	1	2	3	1	3	3	3	1	6	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:7294733A>T	ENST00000537408.1	+	9	2112	c.1574A>T	c.(1573-1575)cAa>cTa	p.Q525L	CLSTN3_ENST00000266546.6_Missense_Mutation_p.Q513L			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	513					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GACACCACCCAAGGTACTCCG	0.458											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	20					0	0	0	0	T	7294733	A	T	7294733	3	4	5	1	0	0	0	0	1	0	0	0	3593	130	5	5	1576	5	CLSTN3	12	7294733	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	336475	7294733	126557162	327	1446											
CLEC6A	93978	broad.mit.edu	37	chr12	8630046	8630046	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcaatatgtgagatgaatAagatttacctatgagtagaa	17	13	8	3	0	1	5	1	3	0	3	1	6	1	5	1	0	1	1	1	0	8	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:8630046A>T	ENST00000382073.3	+	6	802	c.616A>T	c.(616-618)Aag>Tag	p.K206*		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	206					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TGAGATGAATAAGATTTACCT	0.358													47	77					0	0	0	0	T	8630046	A	T	8630046	4	4	5	1	0	0	0	0	0	1	0	0	3550	363	13	5	638	5	CLEC6A	12	8630046	Nonsense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	1335313	8630046	125221849	328	1447											
A2M	2	broad.mit.edu	37	chr12	9262518	9262518	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgatttcttctgtacCaccaccttgtaggagccctg	7	12	7	15	0	2	1	0	1	2	0	2	2	2	2	6	1	2	2	6	1	2	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:9262518C>T	ENST00000318602.7	-	6	925	c.618G>A	c.(616-618)gtG>gtA	p.V206V		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	206					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TCTTCTGTACCACCACCTTGT	0.458													127	186					0	0	0	0	T	9262518	C	T	9262518	2	4	5	1	0	0	0	0	0	0	0	1	4	581	21	4		4	A2M	12	9262518	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	632472	9262518	124589377	329	1448											
PIK3C2G	5288	broad.mit.edu	37	chr12	18644453	18644453	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatacttgtcatcttccTctgaaccctgccctatgtat	9	15	5	12	0	3	1	1	1	2	0	4	1	4	1	3	0	3	2	3	0	6	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:18644453T>G	ENST00000433979.1	+	19	2747	c.2631T>G	c.(2629-2631)ccT>ccG	p.P877P	PIK3C2G_ENST00000266497.5_Silent_p.P877P|PIK3C2G_ENST00000538779.1_Silent_p.P918P	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	877					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTCATCTTCCTCTGAACCCTG	0.333													57	85					0	0	0	0	G	18644453	T	G	18644453	2	3	5	1	0	0	0	0	0	0	0	1	11983	1538	54	5		5	PIK3C2G	12	18644453	Silent	SNP	T	TCGA-BA-4078-01A-01D-1434-08	9381935	18644453	115207442	330	1449											
ABCC9	10060	broad.mit.edu	37	chr12	21965011	21965011	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accactgaatagtattggatCctgcagaatgattgaaagtc	14	11	9	7	0	0	4	0	3	0	1	2	5	1	5	2	1	1	2	2	1	5	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:21965011C>A	ENST00000261200.4	-	34	4182	c.4183G>T	c.(4183-4185)Gat>Tat	p.D1395Y	ABCC9_ENST00000345162.2_Missense_Mutation_p.D1359Y|ABCC9_ENST00000261201.4_Missense_Mutation_p.D1395Y	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1395	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTATTGGATCCTGCAGAATG	0.378													52	113					1.12612e-26	1.44437e-26	1	0	A	21965011	C	A	21965011	3	1	5	1	0	0	0	0	1	0	0	0	59	855	30	2	628	2	ABCC9	12	21965011	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	3320558	21965011	111886884	331	1450											
ABCC9	10060	broad.mit.edu	37	chr12	22028605	22028605	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgttggaattcgaataTctatattggataatgtagct	12	16	8	5	1	1	0	0	0	1	0	2	3	1	2	1	2	2	3	1	2	8	9			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:22028605T>C	ENST00000261200.4	-	15	2074	c.2075A>G	c.(2074-2076)gAt>gGt	p.D692G	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.D656G|ABCC9_ENST00000261201.4_Missense_Mutation_p.D692G	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	692	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AATTCGAATATCTATATTGGA	0.308													42	60					0	0	0	0	C	22028605	T	C	22028605	3	2	5	1	0	0	0	0	1	0	0	0	59	1435	50	5	2812	5	ABCC9	12	22028605	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	63594	22028605	111823290	332	1451											
FGD4	121512	broad.mit.edu	37	chr12	32735204	32735204	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatggagaaagagatgaaActgccacagctcctgcatca	15	7	10	9	0	1	4	1	2	0	2	2	6	2	4	2	1	4	2	2	1	3	0	rs139620944	by1000genomes	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:32735204A>G	ENST00000427716.2	+	4	827	c.403A>G	c.(403-405)Act>Gct	p.T135A	FGD4_ENST00000531134.1_Missense_Mutation_p.T220A|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000525053.1_Missense_Mutation_p.T247A|FGD4_ENST00000534526.2_Missense_Mutation_p.T272A|FGD4_ENST00000472289.1_Missense_Mutation_p.T135A|FGD4_ENST00000546442.1_Missense_Mutation_p.T42A	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	135	Actin filament-binding (By similarity).				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAGAGATGAAACTGCCACAGC	0.493													38	94					0	0	0	0	G	32735204	A	G	32735204	3	3	5	1	0	0	0	0	1	0	0	0	5880	43	2	5	409	5	FGD4	12	32735204	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	10706599	32735204	101116691	333	1452											
CNTN1	1272	broad.mit.edu	37	chr12	41422960	41422960	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagatggagaatacgtTgtggaggttcgcgcgcacag	10	7	15	9	4	0	2	0	0	0	2	1	5	0	3	1	3	1	3	1	3	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:41422960T>A	ENST00000551295.2	+	23	3036	c.2919T>A	c.(2917-2919)gtT>gtA	p.V973V	CNTN1_ENST00000347616.1_Silent_p.V973V|CNTN1_ENST00000348761.2_Silent_p.V962V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	973	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGAATACGTTGTGGAGGTTC	0.448													148	167					0	0	0	0	A	41422960	T	A	41422960	2	1	5	1	0	0	0	0	0	0	0	1	3670	1799	63	5		5	CNTN1	12	41422960	Silent	SNP	T	TCGA-BA-4078-01A-01D-1434-08	8687756	41422960	92428935	334	1453											
DNAJC22	79962	broad.mit.edu	37	chr12	49745133	49745133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaggggcaacaaatgaaGaaatacatcggagttaccag	18	5	11	7	1	0	3	0	1	0	2	1	4	0	4	1	3	3	2	1	3	7	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:49745133G>A	ENST00000549441.2	+	4	2078	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	DNAJC22_ENST00000395069.3_Missense_Mutation_p.E292K			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	292	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						AACAAATGAAGAAATACATCG	0.522													33	73					0	0	0	0	A	49745133	G	A	49745133	3	1	5	1	0	0	0	0	1	0	0	0	4677	943	33	2	880	2	DNAJC22	12	49745133	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	8322173	49745133	84106762	335	1454											
SLC11A2	4891	broad.mit.edu	37	chr12	51388355	51388355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agatgtccacagccagtgtcGagttatctttaggaaagagg	12	10	12	7	1	1	2	0	0	1	2	3	4	2	3	2	2	1	1	2	2	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:51388355G>C	ENST00000394904.3	-	11	1185	c.1136C>G	c.(1135-1137)tCg>tGg	p.S379W	SLC11A2_ENST00000546743.1_Missense_Mutation_p.S271W|SLC11A2_ENST00000547688.1_Missense_Mutation_p.S379W|SLC11A2_ENST00000547198.1_Missense_Mutation_p.S350W|SLC11A2_ENST00000545993.2_Missense_Mutation_p.S346W|SLC11A2_ENST00000262051.7_Missense_Mutation_p.S350W|SLC11A2_ENST00000541174.2_Missense_Mutation_p.S350W|SLC11A2_ENST00000262052.5_Missense_Mutation_p.S350W	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	350					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						AGCCAGTGTCGAGTTATCTTT	0.403													57	95					0	0	0	0	C	51388355	G	C	51388355	3	2	5	1	0	0	0	0	1	0	0	0	14469	1059	37	3	742	3	SLC11A2	12	51388355	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1643222	51388355	82463540	336	1455											
KRT73	319101	broad.mit.edu	37	chr12	53012037	53012037	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacggacacacggaccccAaggccacactgccaaacatg	14	2	9	16	3	0	0	0	0	0	0	0	3	0	2	4	3	2	0	4	3	2	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:53012037A>G	ENST00000305748.3	-	1	306	c.272T>C	c.(271-273)tTg>tCg	p.L91S		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	91	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACGGACCCCAAGGCCACACT	0.627													111	162					0	0	0	0	G	53012037	A	G	53012037	3	3	5	1	0	0	0	0	1	0	0	0	8538	131	5	5	1386	5	KRT73	12	53012037	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	1623682	53012037	80839858	337	1456											
HOXC13	3229	broad.mit.edu	37	chr12	54338804	54338804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtggttcccctgcagcccGaggtgagcagctaccggcgc	6	6	14	15	4	0	1	0	1	0	0	1	2	1	1	4	3	5	4	4	3	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:54338804G>A	ENST00000243056.3	+	2	913	c.757G>A	c.(757-759)Gag>Aag	p.E253K		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	253						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						CCTGCAGCCCGAGGTGAGCAG	0.607			T	NUP98	AML								148	213					0	0	0	0	A	54338804	G	A	54338804	3	1	5	1	0	0	0	0	1	0	0	0	7362	1059	37	1	763	1	HOXC13	12	54338804	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1326767	54338804	79513091	338	1457											
AVIL	10677	broad.mit.edu	37	chr12	58197112	58197112	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctcagtgacaacgaatTggccggtcttattggaacat	11	12	10	8	2	2	2	1	2	2	0	3	4	2	3	1	3	2	0	1	3	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:58197112T>G	ENST00000537081.1	-	15	1858	c.1859A>C	c.(1858-1860)cAa>cCa	p.Q620P	AVIL_ENST00000550083.1_5'UTR|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.Q627P			O75366	AVIL_HUMAN	advillin	627	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GACAACGAATTGGCCGGTCTT	0.478											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	139	214					0	0	0	0	G	58197112	T	G	58197112	3	3	5	1	0	0	0	0	1	0	0	0	1231	1812	63	5	599	5	AVIL	12	58197112	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	3858308	58197112	75654783	339	1458											
PTPRB	5787	broad.mit.edu	37	chr12	70928431	70928431	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgtgcatcaagctgttcctCctgtaagagcagagagcagg	10	9	13	9	0	1	2	1	0	0	2	3	3	3	2	2	1	4	6	2	1	2	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:70928431C>T	ENST00000334414.6	-	31	6249	c.6204_splice	c.e31-1	p.E2069_splice	PTPRB_ENST00000261266.5_Splice_Site_p.E1851_splice|PTPRB_ENST00000538708.1_Splice_Site_p.E1761_splice|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000550358.1_Splice_Site_p.E1981_splice|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550857.1_Splice_Site_p.E1761_splice|PTPRB_ENST00000451516.2_Splice_Site_p.E1761_splice	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1851					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCTGTTCCTCCTGTAAGAGC	0.493													17	18					0	0	0	0	T	70928431	C	T	70928431	5	4	5	1	0	0	0	0	0	0	1	0	12878	869	30	2	458	2	PTPRB	12	70928431	Splice_Site	SNP	C	TCGA-BA-4078-01A-01D-1434-08	12731319	70928431	62923464	340	1459											
OSBPL8	114882	broad.mit.edu	37	chr12	76791585	76791585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcagaagaactgttcctacCcactgaccatttttttgggt	9	15	7	10	0	1	3	1	1	0	2	2	3	2	3	3	1	2	1	3	1	3	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:76791585C>A	ENST00000261183.3	-	8	1040	c.561G>T	c.(559-561)tgG>tgT	p.W187C	OSBPL8_ENST00000393250.4_Missense_Mutation_p.W145C|OSBPL8_ENST00000393249.2_Missense_Mutation_p.W145C	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	187	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CTGTTCCTACCCACTGACCAT	0.398													48	71					1.00776e-21	1.21794e-21	1	0	A	76791585	C	A	76791585	3	1	5	1	0	0	0	0	1	0	0	0	11354	624	22	4	2176	4	OSBPL8	12	76791585	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	5863154	76791585	57060310	341	1460											
ANKS1B	56899	broad.mit.edu	37	chr12	99548223	99548223	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagggagtagccgtccacGgggtaatagcggtagtcctg	9	7	16	9	3	0	0	0	0	0	0	2	1	2	1	3	4	3	4	3	4	4	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:99548223G>T	ENST00000550693.2	-	1	301	c.48C>A	c.(46-48)ccC>ccA	p.P16P	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000332712.7_Silent_p.P16P|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000549493.2_Silent_p.P16P|ANKS1B_ENST00000546568.1_Silent_p.P16P|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000546960.1_Silent_p.P16P|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000549558.2_Silent_p.P16P	NM_001204069.1|NM_001204070.1	NP_001190998.1|NP_001190999.1	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	0						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGCCGTCCACGGGGTAATAGC	0.537													44	41					7.88023e-25	9.98881e-25	1	0	T	99548223	G	T	99548223	2	4	5	1	0	0	0	0	0	0	0	1	688	1103	39	3		3	ANKS1B	12	99548223	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	22756638	99548223	34303672	342	1461											
DEPDC4	120863	broad.mit.edu	37	chr12	100660775	100660775	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccctgggcccggaagctcgTtctgactgacaagtctacgg	7	8	13	13	3	2	2	0	2	2	0	3	3	2	3	2	3	2	2	2	3	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:100660775T>C	ENST00000416321.1	-	1	82	c.80A>G	c.(79-81)aAc>aGc	p.N27S		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	27					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						CGGAAGCTCGTTCTGACTGAC	0.602													97	119					0	0	0	0	C	100660775	T	C	100660775	3	2	5	1	0	0	0	0	1	0	0	0	4478	1725	60	5	824	5	DEPDC4	12	100660775	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	1112552	100660775	33191120	343	1462											
ANO4	121601	broad.mit.edu	37	chr12	101295504	101295504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaagccgcccagcgtcaCgtcgtcgcctgcctgtggtc	4	8	13	16	5	1	0	1	0	0	0	4	0	1	0	4	2	3	1	4	2	1	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:101295504C>A	ENST00000538618.1	+	4	439	c.439C>A	c.(439-441)Cgt>Agt	p.R147S	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000392979.3_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCCAGCGTCACGTCGTCGCCT	0.498										HNSCC(74;0.22)			49	79					8.86878e-18	1.03522e-17	1	0	A	101295504	C	A	101295504	3	1	5	1	0	0	0	0	1	0	0	0	698	551	19	3		3	ANO4	12	101295504	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	634729	101295504	32556391	344	1463											
SLC5A8	160728	broad.mit.edu	37	chr12	101603501	101603501	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccatcaggaagtccttGgaggtctgctggccgccccc	5	7	12	17	2	2	0	1	0	1	0	3	2	3	2	6	4	1	1	6	4	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:101603501G>A	ENST00000536262.2	-	1	684	c.126C>T	c.(124-126)tcC>tcT	p.S42S		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	42					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGAAGTCCTTGGAGGTCTGCT	0.657													25	38					0	0	0	0	A	101603501	G	A	101603501	2	1	5	1	0	0	0	0	0	0	0	1	14759	1335	47	4		4	SLC5A8	12	101603501	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	307997	101603501	32248394	345	1464											
STAB2	55576	broad.mit.edu	37	chr12	104054129	104054129	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatctcggaagcttctggaActcgtcagataccacattgt	10	11	10	10	2	3	1	1	0	2	1	5	4	3	4	1	3	3	1	1	3	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:104054129A>T	ENST00000388887.2	+	16	1959	c.1755A>T	c.(1753-1755)gaA>gaT	p.E585D		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	585	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCTTCTGGAACTCGTCAGAT	0.438													146	219					0	0	0	0	T	104054129	A	T	104054129	3	4	5	1	0	0	0	0	1	0	0	0	15328	40	2	5	1817	5	STAB2	12	104054129	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	2450628	104054129	29797766	346	1465											
POLR3B	55703	broad.mit.edu	37	chr12	106760311	106760311	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggtgaaaggccttgtgaaAcagcatatagattcatttaa	15	12	9	5	0	1	3	1	2	0	1	1	3	1	3	1	2	2	1	1	2	6	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:106760311A>G	ENST00000228347.4	+	3	345	c.123A>G	c.(121-123)aaA>aaG	p.K41K	POLR3B_ENST00000539066.1_5'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	41					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GCCTTGTGAAACAGCATATAG	0.318													45	44					0	0	0	0	G	106760311	A	G	106760311	2	3	5	1	0	0	0	0	0	0	0	1	12301	40	2	5		5	POLR3B	12	106760311	Silent	SNP	A	TCGA-BA-4078-01A-01D-1434-08	2706182	106760311	27091584	347	1466											
USP30	84749	broad.mit.edu	37	chr12	109522854	109522854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcgccgatgcccttccCtctcccagttgttcccgact	4	11	8	18	3	2	0	1	0	1	0	5	2	4	0	5	0	2	2	5	0	0	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:109522854C>T	ENST00000257548.5	+	12	1358	c.1265C>T	c.(1264-1266)cCt>cTt	p.P422L	USP30_ENST00000392784.2_Missense_Mutation_p.P391L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	422					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATGCCCTTCCCTCTCCCAGTT	0.507													250	374					0	0	0	0	T	109522854	C	T	109522854	3	4	5	1	0	0	0	0	1	0	0	0	17157	681	24	4	1311	4	USP30	12	109522854	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2762543	109522854	24329041	348	1467											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124221737	124221737	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgtgcagctttgacgtGaccaacaagtgcctcattgc	11	10	9	11	1	1	2	1	2	0	0	1	2	1	2	2	0	6	2	2	0	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:124221737G>T	ENST00000330342.3	+	9	1205	c.957G>T	c.(955-957)gtG>gtT	p.V319V		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	319					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GCTTTGACGTGACCAACAAGT	0.562													51	68					6.17242e-35	8.43347e-35	1	0	T	124221737	G	T	124221737	2	4	5	1	0	0	0	0	0	0	0	1	1173	1277	45	2		2	ATP6V0A2	12	124221737	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	14698883	124221737	9630158	349	1468											
TMEM132D	121256	broad.mit.edu	37	chr12	129559181	129559181	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtccctccatgagtcccaTagaagaactgccatagtact	11	9	7	14	1	0	3	0	1	0	2	3	3	3	3	5	0	3	1	5	0	5	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:129559181T>G	ENST00000422113.2	-	9	2865	c.2539A>C	c.(2539-2541)Atg>Ctg	p.M847L	TMEM132D_ENST00000389441.4_Missense_Mutation_p.M385L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	847						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGAGTCCCATAGAAGAACTG	0.527													62	87					0	0	0	0	G	129559181	T	G	129559181	3	3	5	1	0	0	0	0	1	0	0	0	16141	1406	49	5	764	5	TMEM132D	12	129559181	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	5337444	129559181	4292714	350	1469											
TPTE2	93492	broad.mit.edu	37	chr13	20039644	20039644	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagttgtcttttttgatgAagcagatgaaaaattcttat	13	17	7	4	0	3	4	1	3	2	1	3	4	3	4	0	0	1	2	0	0	5	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:20039644A>T	ENST00000400230.2	-	8	617	c.573T>A	c.(571-573)ctT>ctA	p.L191L	TPTE2_ENST00000382975.4_Silent_p.L151L|TPTE2_ENST00000457266.2_Silent_p.L80L|TPTE2_ENST00000255310.6_Silent_p.L114L|TPTE2_ENST00000390680.2_Silent_p.L114L|TPTE2_ENST00000400103.2_Silent_p.L80L|TPTE2_ENST00000382978.1_Silent_p.L151L|TPTE2_ENST00000382977.4_Silent_p.L191L			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	191						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTTTTTGATGAAGCAGATGAA	0.333													28	11					0	0	0	0	T	20039644	A	T	20039644	2	4	5	1	0	0	0	0	0	0	0	1	16526	233	9	5		5	TPTE2	13	20039644	Silent	SNP	A	TCGA-BA-4078-01A-01D-1434-08		20039644	95130234	351	1470											
RNF17	56163	broad.mit.edu	37	chr13	25362210	25362211	+	Frame_Shift_Ins	INS	-	-	A																															ctaaaagctacattgaagagINSaaaaaaaataatttgaatgc																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:25362210_25362211insA	ENST00000255324.5	+	7	748_749	c.696_697insA	c.(694-699)gaaaaafs	p.EK232fs	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Frame_Shift_Ins_p.EK232fs|RNF17_ENST00000255325.5_Frame_Shift_Ins_p.EK233fs	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	232					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.N235fs*3(2)		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)		ACATTGAAGAGAAAAAAAATAA	0.307													42	31	---	---	---	---					A	25362211	-	A	25362210	7	5	5	1	0	1	1	0	0	0	0	0	13546	933	33	0	722	0	RNF17	13	25362210	Frame_Shift_Ins	INS	-	TCGA-BA-4078-01A-01D-1434-08	5322566	25362210	89807668	352	1471											
ATP8A2	51761	broad.mit.edu	37	chr13	26129169	26129169	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatgacactcctgccaTggccaggacatcaaacctta	14	7	8	12	0	1	1	1	1	0	0	2	3	2	3	4	3	2	0	4	3	3	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:26129169T>A	ENST00000381655.2	+	13	1368	c.1226T>A	c.(1225-1227)aTg>aAg	p.M409K	ATP8A2_ENST00000255283.8_Missense_Mutation_p.M369K	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	369					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTCCTGCCATGGCCAGGACA	0.418													61	19					0	0	0	0	A	26129169	T	A	26129169	3	1	5	1	0	0	0	0	1	0	0	0	1197	1464	51	5	1276	5	ATP8A2	13	26129169	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	766959	26129169	89040709	353	1472											
RXFP2	122042	broad.mit.edu	37	chr13	32339279	32339279	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaacaatgtgacattacTgtgagtaaaacttaattatt	15	16	5	5	0	1	2	0	2	1	0	1	2	1	2	0	0	3	1	0	0	7	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:32339279T>A	ENST00000298386.2	+	4	496	c.425_splice	c.e4+1	p.L142_splice	RXFP2_ENST00000380314.1_Splice_Site_p.L142_splice	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	142						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GTGACATTACTGTGAGTAAAA	0.343													38	12					0	0	0	0	A	32339279	T	A	32339279	5	1	5	1	0	0	0	0	0	0	1	0	13845	1594	55	5	439	5	RXFP2	13	32339279	Splice_Site	SNP	T	TCGA-BA-4078-01A-01D-1434-08	6210110	32339279	82830599	354	1473											
SIAH3	283514	broad.mit.edu	37	chr13	46357979	46357979	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccacctccaggcggccttCccactggcaggagaacaagg	10	4	11	16	1	0	1	0	0	0	1	2	2	2	1	5	5	1	1	5	5	2	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:46357979C>A	ENST00000400405.2	-	2	455	c.349G>T	c.(349-351)Gaa>Taa	p.E117*		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	117					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	p.E117K(1)		large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGGCGGCCTTCCCACTGGCAG	0.667													55	24					4.67498e-28	6.09249e-28	1	0	A	46357979	C	A	46357979	4	1	5	1	0	0	0	0	0	1	0	0	14389	864	30	2	464	2	SIAH3	13	46357979	Nonsense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	14018700	46357979	68811899	355	1474											
SLITRK5	26050	broad.mit.edu	37	chr13	88329715	88329715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcgtgctggtcatgaagcGcaggaagaagaaccagagcg	12	6	14	9	3	1	4	1	1	0	3	2	5	1	5	1	2	4	2	1	2	4	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:88329715G>T	ENST00000325089.6	+	2	2291	c.2072G>T	c.(2071-2073)cGc>cTc	p.R691L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R450L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	691						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTCATGAAGCGCAGGAAGAAG	0.602													25	18					1.55469e-16	1.79537e-16	1	0	T	88329715	G	T	88329715	3	4	5	1	0	0	0	0	1	0	0	0	14834	1087	38	3	2074	3	SLITRK5	13	88329715	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	41971736	88329715	26840163	356	1475											
OR4K1	79544	broad.mit.edu	37	chr14	20403895	20403895	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctaattcctggggacttCaacttttcttttttgccatc	6	19	5	11	0	3	0	1	0	2	0	6	1	4	1	2	2	2	0	2	2	2	8			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:20403895C>T	ENST00000285600.4	+	1	129	c.70C>T	c.(70-72)Caa>Taa	p.Q24*		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTGGGGACTTCAACTTTTCTT	0.358													196	326					0	0	0	0	T	20403895	C	T	20403895	4	4	5	1	0	0	0	0	0	1	0	0	11138	827	29	2	72	2	OR4K1	14	20403895	Nonsense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08		20403895	86945645	357	1476											
OR11G2	390439	broad.mit.edu	37	chr14	20666109	20666109	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacatctcccaaatgtcCttctgtggatctaggattat	10	14	7	10	0	4	0	1	0	3	0	6	2	5	2	2	2	1	0	2	2	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:20666109C>A	ENST00000357366.3	+	1	615	c.615C>A	c.(613-615)tcC>tcA	p.S205S		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCCAAATGTCCTTCTGTGGAT	0.443													59	19					8.28887e-21	9.92523e-21	1	0	A	20666109	C	A	20666109	2	1	5	1	0	0	0	0	0	0	0	1	10996	668	24	4		4	OR11G2	14	20666109	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	262214	20666109	86683431	358	1477											
TEP1	7011	broad.mit.edu	37	chr14	20846329	20846329	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catactgtccagccggcccaCagccacaacccccccaggca	10	3	7	21	1	0	0	0	0	0	0	1	0	1	0	7	2	4	1	7	2	2	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:20846329C>G	ENST00000262715.5	-	39	5615	c.5575G>C	c.(5575-5577)Gtg>Ctg	p.V1859L	TEP1_ENST00000556935.1_Missense_Mutation_p.V1751L|TEP1_ENST00000545983.1_Missense_Mutation_p.V197L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1859					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCCGGCCCACAGCCACAACC	0.622													47	15					0	0	0	0	G	20846329	C	G	20846329	3	3	5	1	0	0	0	0	1	0	0	0	15853	478	17	4	2376	4	TEP1	14	20846329	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	180220	20846329	86503211	359	1478											
MYH6	4624	broad.mit.edu	37	chr14	23866242	23866242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcggatgccctccagcaCgccattgcagcgcagctggt	7	7	13	14	3	0	0	0	0	0	0	1	2	1	1	3	2	6	4	3	2	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:23866242C>T	ENST00000405093.3	-	18	2168	c.2098G>A	c.(2098-2100)Gtg>Atg	p.V700M	MYH6_ENST00000356287.3_Missense_Mutation_p.V700M	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	700	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCCTCCAGCACGCCATTGCAG	0.617													43	13					0	0	0	0	T	23866242	C	T	23866242	3	4	5	1	0	0	0	0	1	0	0	0	10108	536	19	1	3809	1	MYH6	14	23866242	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	3019913	23866242	83483298	360	1479											
NPAS3	64067	broad.mit.edu	37	chr14	34247672	34247672	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgtgttcttctctttgtagGattagtgattatatggatct	7	20	9	5	0	3	1	0	1	3	0	4	3	3	3	0	2	0	2	0	2	4	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:34247672G>C	ENST00000346562.2	+	8	1025	c.950_splice	c.e8-1	p.R317_splice	NPAS3_ENST00000548645.1_Splice_Site_p.R319_splice|NPAS3_ENST00000357798.5_Splice_Site_p.R336_splice|NPAS3_ENST00000551492.1_Splice_Site_p.R354_splice|NPAS3_ENST00000356141.4_Splice_Site_p.R349_splice	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CTCTTTGTAGGATTAGTGATT	0.403													63	19					0	0	0	0	C	34247672	G	C	34247672	5	2	5	1	0	0	0	0	0	0	1	0	10634	1188	41	2	1136	2	NPAS3	14	34247672	Splice_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	10381430	34247672	73101868	361	1480											
MAP4K5	11183	broad.mit.edu	37	chr14	50912808	50912808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagctcaccttaggaggtaGgggaggtggtattgcacgtt	8	11	16	6	1	1	0	1	0	0	0	1	2	1	2	1	6	2	6	1	6	4	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:50912808G>A	ENST00000013125.4	-	17	1492	c.1174C>T	c.(1174-1176)Cta>Tta	p.L392L		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	392					activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TTAGGAGGTAGGGGAGGTGGT	0.279													9	6					0	0	0	0	A	50912808	G	A	50912808	2	1	5	1	0	0	0	0	0	0	0	1	9332	991	35	4		4	MAP4K5	14	50912808	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	16665136	50912808	56436732	362	1481											
RGS6	9628	broad.mit.edu	37	chr14	72939588	72939588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttactctttcaggattgaccGgaaaaaagacaagacagaaa	18	8	8	7	1	2	4	1	1	1	3	2	6	2	6	1	2	1	0	1	2	6	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:72939588G>A	ENST00000553530.1	+	9	752	c.545G>A	c.(544-546)cGg>cAg	p.R182Q	RGS6_ENST00000343854.6_Missense_Mutation_p.R182Q|RGS6_ENST00000402788.2_Missense_Mutation_p.R182Q|RGS6_ENST00000407322.4_Missense_Mutation_p.R182Q|RGS6_ENST00000355512.6_Missense_Mutation_p.R182Q|RGS6_ENST00000553525.1_Missense_Mutation_p.R182Q|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000554782.1_Missense_Mutation_p.R43Q|RGS6_ENST00000556437.1_Missense_Mutation_p.R182Q|RGS6_ENST00000434263.2_Missense_Mutation_p.R113Q|RGS6_ENST00000555571.1_Missense_Mutation_p.R182Q|RGS6_ENST00000406236.4_Missense_Mutation_p.R182Q|RGS6_ENST00000404301.2_Missense_Mutation_p.R182Q	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	182					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AGGATTGACCGGAAAAAAGAC	0.448													125	56					0	0	0	0	A	72939588	G	A	72939588	3	1	5	1	0	0	0	0	1	0	0	0	13392	1116	39	1	575	1	RGS6	14	72939588	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	22026780	72939588	34409952	363	1482											
GALC	2581	broad.mit.edu	37	chr14	88411945	88411945	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggatgcatcggcagccCatgtaatgggtctctggttg	6	13	14	8	1	1	0	0	0	1	0	3	1	1	1	1	4	2	5	1	4	1	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:88411945C>T	ENST00000261304.2	-	14	1728	c.1622G>A	c.(1621-1623)tGg>tAg	p.W541*	GALC_ENST00000544807.2_Nonsense_Mutation_p.W485*|GALC_ENST00000393569.2_Nonsense_Mutation_p.W515*|GALC_ENST00000393568.4_Nonsense_Mutation_p.W518*	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	541					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCGGCAGCCCATGTAATGGG	0.418													57	21					0	0	0	0	T	88411945	C	T	88411945	4	4	5	1	0	0	0	0	0	1	0	0	6250	595	21	4	451	4	GALC	14	88411945	Nonsense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	15472357	88411945	18937595	364	1483											
TTC8	123016	broad.mit.edu	37	chr14	89338730	89338730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctggctctggtcaacaaCaacaaccacgccgaggccta	12	5	10	14	2	2	0	1	0	1	0	2	1	2	0	3	4	4	2	3	4	5	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:89338730C>A	ENST00000338104.6	+	13	1381	c.1329C>A	c.(1327-1329)aaC>aaA	p.N443K	TTC8_ENST00000345383.5_Missense_Mutation_p.N417K|TTC8_ENST00000536576.1_Missense_Mutation_p.N188K|TTC8_ENST00000358622.5_Missense_Mutation_p.N229K|TTC8_ENST00000354441.6_Missense_Mutation_p.N162K|TTC8_ENST00000346301.4_Missense_Mutation_p.N387K|TTC8_ENST00000380656.2_Missense_Mutation_p.N427K			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	453					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGGTCAACAACAACAACCACG	0.532													63	18					1.12612e-26	1.44437e-26	1	0	A	89338730	C	A	89338730	3	1	5	1	0	0	0	0	1	0	0	0	16810	477	17	4	1331	4	TTC8	14	89338730	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	926785	89338730	18010810	365	1484											
SLC24A4	123041	broad.mit.edu	37	chr14	92959954	92959954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcgtcaacttgccgatGtgccgggaagacgattagcg	9	9	12	11	5	1	1	1	0	0	1	2	4	1	2	3	1	4	0	3	1	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:92959954G>A	ENST00000532405.1	+	17	2077	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	SLC24A4_ENST00000298877.1_Missense_Mutation_p.M600I|SLC24A4_ENST00000531433.1_Missense_Mutation_p.M598I|SLC24A4_ENST00000393265.2_Missense_Mutation_p.M553I|SLC24A4_ENST00000351924.5_Missense_Mutation_p.M581I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	617						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		ACTTGCCGATGTGCCGGGAAG	0.562													25	2					0	0	0	0	A	92959954	G	A	92959954	3	1	5	1	0	0	0	0	1	0	0	0	14556	1377	48	4	1866	4	SLC24A4	14	92959954	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3621224	92959954	14389586	366	1485											
DICER1	23405	broad.mit.edu	37	chr14	95595897	95595897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttttcttccaattcctctgGatcacatttcccatttaaaa	10	17	2	12	0	3	0	1	0	2	0	6	1	6	1	3	1	0	0	3	1	3	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:95595897G>A	ENST00000526495.1	-	8	937	c.646C>T	c.(646-648)Cca>Tca	p.P216S	DICER1_ENST00000527414.1_Missense_Mutation_p.P216S|DICER1_ENST00000393063.1_Missense_Mutation_p.P216S|DICER1_ENST00000343455.3_Missense_Mutation_p.P216S|DICER1_ENST00000541352.1_Missense_Mutation_p.P216S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	216	Helicase ATP-binding.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AATTCCTCTGGATCACATTTC	0.373			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				61	21					0	0	0	0	A	95595897	G	A	95595897	3	1	5	1	0	0	0	0	1	0	0	0	4558	1174	41	2	5210	2	DICER1	14	95595897	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2635943	95595897	11753643	367	1486											
ATG2B	55102	broad.mit.edu	37	chr14	96777573	96777573	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcacaagagtctgagcacgTtctgatatggacaacatcgc	13	8	10	10	2	2	3	0	2	2	1	3	4	2	4	0	1	3	3	0	1	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:96777573T>A	ENST00000359933.4	-	28	4935	c.4042A>T	c.(4042-4044)Acg>Tcg	p.T1348S	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1348										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCTGAGCACGTTCTGATATGG	0.448													113	33					0	0	0	0	A	96777573	T	A	96777573	3	1	5	1	0	0	0	0	1	0	0	0	1098	1725	60	5	2254	5	ATG2B	14	96777573	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	1181676	96777573	10571967	368	1487											
ATP10A	57194	broad.mit.edu	37	chr15	26026341	26026341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccacgtggatttctttcCagaatcggttcacgtatttc	7	15	7	12	3	2	1	1	0	1	1	6	2	4	2	2	2	0	2	2	2	2	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:26026341C>A	ENST00000356865.6	-	2	590	c.479G>T	c.(478-480)tGg>tTg	p.W160L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	160					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GATTTCTTTCCAGAATCGGTT	0.498													25	26					4.4004e-07	4.68174e-07	1	0	A	26026341	C	A	26026341	3	1	5	1	0	0	0	0	1	0	0	0	1120	595	21	4	4100	4	ATP10A	15	26026341	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08		26026341	76505051	369	1488											
BUB1B	701	broad.mit.edu	37	chr15	40488910	40488910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagatttatgcaggagtagGggaattctcctttgaagaaa	14	11	12	4	0	1	3	0	1	1	2	2	6	1	5	1	3	1	2	1	3	6	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:40488910G>A	ENST00000287598.6	+	9	1418	c.1223G>A	c.(1222-1224)gGg>gAg	p.G408E	BUB1B_ENST00000412359.3_Missense_Mutation_p.G422E	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	408					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GCAGGAGTAGGGGAATTCTCC	0.418			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				4	138					0	0	0	0	A	40488910	G	A	40488910	3	1	5	1	0	0	0	0	1	0	0	0	1580	1232	43	4	1257	4	BUB1B	15	40488910	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	14462569	40488910	62042482	370	1489											
ADAL	161823	broad.mit.edu	37	chr15	43627996	43627996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgatcagatgactgtgattGacaagggaaagaaaagaact	18	7	11	5	1	1	6	1	3	0	3	1	8	1	7	0	1	1	0	0	1	5	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:43627996G>A	ENST00000422466.2	+	5	740	c.166G>A	c.(166-168)Gac>Aac	p.D56N	ADAL_ENST00000562188.1_Missense_Mutation_p.D56N|ADAL_ENST00000389651.4_Missense_Mutation_p.D56N|ADAL_ENST00000428046.3_Missense_Mutation_p.D56N			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	56					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GACTGTGATTGACAAGGGAAA	0.378													88	110					0	0	0	0	A	43627996	G	A	43627996	3	1	5	1	0	0	0	0	1	0	0	0	233	1290	45	2	172	2	ADAL	15	43627996	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3139086	43627996	58903396	371	1490											
SHF	90525	broad.mit.edu	37	chr15	45460274	45460274	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggctgttctggcccagCacatatttgtgttccttggt	4	14	13	10	1	1	0	0	0	1	0	2	0	2	0	2	4	1	4	2	4	1	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:45460274C>G	ENST00000290894.8	-	8	1637	c.1143G>C	c.(1141-1143)gtG>gtC	p.V381V	SHF_ENST00000560734.1_3'UTR|SHF_ENST00000318390.6_Silent_p.V391V|SHF_ENST00000560540.1_3'UTR|SHF_ENST00000458022.2_Silent_p.V197V	NM_138356.2	NP_612365.2	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TCTGGCCCAGCACATATTTGT	0.572											OREG0023104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	44					0	0	0	0	G	45460274	C	G	45460274	2	3	5	1	0	0	0	0	0	0	0	1	14365	697	25	4		4	SHF	15	45460274	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	1832278	45460274	57071118	372	1491											
SLC24A5	283652	broad.mit.edu	37	chr15	48428997	48428997	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgctgcgcctgtcttgcCaaagctatggagagaagtga	9	10	12	10	1	1	2	0	1	1	1	1	4	1	3	3	1	4	2	3	1	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:48428997C>A	ENST00000341459.3	+	6	781	c.708C>A	c.(706-708)gcC>gcA	p.A236A	SLC24A5_ENST00000449382.2_Silent_p.A176A	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	236					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CCTGTCTTGCCAAAGCTATGG	0.388													28	36					4.7796e-09	5.16134e-09	1	0	A	48428997	C	A	48428997	2	1	5	1	0	0	0	0	0	0	0	1	14557	581	21	4		4	SLC24A5	15	48428997	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2968723	48428997	54102395	373	1492											
ATP8B4	79895	broad.mit.edu	37	chr15	50336882	50336882	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaaggaggaaatttctGgaattagctgaaacaaacat	17	9	10	5	0	2	1	1	1	1	0	2	4	2	4	0	4	3	1	0	4	6	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:50336882G>T	ENST00000284509.6	-	5	350	c.209C>A	c.(208-210)cCa>cAa	p.P70Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.P70Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	70					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGAAATTTCTGGAATTAGCTG	0.353													22	37					1.10513e-12	1.23874e-12	1	0	T	50336882	G	T	50336882	3	4	5	1	0	0	0	0	1	0	0	0	1201	1348	47	4	3465	4	ATP8B4	15	50336882	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1907885	50336882	52194510	374	1493											
TRPM7	54822	broad.mit.edu	37	chr15	50929755	50929755	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaacattcaatttgctCagggggttcaataaggtttg	12	14	9	6	0	4	0	4	0	0	0	4	0	4	0	0	3	2	3	0	3	5	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:50929755C>A	ENST00000313478.7	-	7	977	c.696G>T	c.(694-696)ctG>ctT	p.L232L	TRPM7_ENST00000560955.1_Silent_p.L232L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	232					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCAATTTGCTCAGGGGGTTCA	0.373													57	57					1.54886e-18	1.82434e-18	1	0	A	50929755	C	A	50929755	2	1	5	1	0	0	0	0	0	0	0	1	16686	813	29	2		2	TRPM7	15	50929755	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	592873	50929755	51601637	375	1494											
UNC13C	440279	broad.mit.edu	37	chr15	54307549	54307549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtatggaacaaaagcacaCagagtctgagtgggtatgag	15	8	13	5	0	1	3	0	2	1	1	1	4	1	4	0	2	2	3	0	2	6	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:54307549C>A	ENST00000545554.1	+	1	2449	c.2449C>A	c.(2449-2451)Cag>Aag	p.Q817K	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q817K|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q817K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	817					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAAAGCACACAGAGTCTGAG	0.428													33	45					1.60099e-16	1.84554e-16	1	0	A	54307549	C	A	54307549	3	1	5	1	0	0	0	0	1	0	0	0	17082	479	17	4	2451	4	UNC13C	15	54307549	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	3377794	54307549	48223843	376	1495											
UNC13C	440279	broad.mit.edu	37	chr15	54307585	54307585	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaggacagtggctcttcaTtaatggggagatttcggaca	11	11	13	6	1	2	2	1	1	1	1	3	5	2	4	0	5	0	1	0	5	1	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:54307585T>C	ENST00000545554.1	+	1	2485	c.2485T>C	c.(2485-2487)Tta>Cta	p.L829L	UNC13C_ENST00000537900.1_Silent_p.L829L|UNC13C_ENST00000260323.11_Silent_p.L829L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	829					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGCTCTTCATTAATGGGGAG	0.428													40	39					0	0	0	0	C	54307585	T	C	54307585	2	2	5	1	0	0	0	0	0	0	0	1	17082	1490	52	5		5	UNC13C	15	54307585	Silent	SNP	T	TCGA-BA-4078-01A-01D-1434-08	36	54307585	48223807	377	1496											
VPS13C	54832	broad.mit.edu	37	chr15	62312738	62312738	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgctttggatcagtgacCtaccaaagaagaaaagataa	16	7	10	8	1	1	4	1	1	0	3	1	5	1	5	3	2	1	1	3	2	6	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:62312738C>A	ENST00000261517.5	-	9	698		c.e9-1		VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)						protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GATCAGTGACCTACCAAAGAA	0.403													37	45					8.69298e-16	9.96774e-16	1	0	A	62312738	C	A	62312738	5	1	5	1	0	0	0	0	0	0	1	0	17287	695	24	4	10973	4	VPS13C	15	62312738	Splice_Site	SNP	C	TCGA-BA-4078-01A-01D-1434-08	8005153	62312738	40218654	378	1497											
PLEKHO2	80301	broad.mit.edu	37	chr15	65157206	65157206	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcagtgaagcccaacctcggGagacaccccggcccctcatg	9	5	10	17	2	2	2	2	1	0	1	3	3	2	2	6	2	2	0	6	2	2	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:65157206G>C	ENST00000323544.4	+	6	720	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	198	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCAACCTCGGGAGACACCCCG	0.622													59	149					0	0	0	0	C	65157206	G	C	65157206	3	2	5	1	0	0	0	0	1	0	0	0	12157	1175	41	2	614	2	PLEKHO2	15	65157206	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2844468	65157206	37374186	379	1498											
DENND4A	10260	broad.mit.edu	37	chr15	65994823	65994823	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatggaagagtacctcttTgcaattttatgggctgattt	9	15	12	5	0	1	2	0	1	1	1	1	4	1	4	1	3	2	3	1	3	4	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:65994823T>G	ENST00000443035.3	-	17	2465	c.2250A>C	c.(2248-2250)gcA>gcC	p.A750A	DENND4A_ENST00000431932.2_Silent_p.A750A	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AGTACCTCTTTGCAATTTTAT	0.373													6	4					0	0	0	0	G	65994823	T	G	65994823	2	3	5	1	0	0	0	0	0	0	0	1	4470	1799	63	5		5	DENND4A	15	65994823	Silent	SNP	T	TCGA-BA-4078-01A-01D-1434-08	837617	65994823	36536569	380	1499											
ARID3B	10620	broad.mit.edu	37	chr15	74865224	74865224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtggtttggcctggagtGatgatgcagatggaggccgg	7	10	19	5	1	0	3	0	2	0	1	0	5	0	5	2	7	1	2	2	7	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:74865224G>A	ENST00000346246.5	+	3	805	c.574G>A	c.(574-576)Gat>Aat	p.D192N		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GGCCTGGAGTGATGATGCAGA	0.473													35	79					0	0	0	0	A	74865224	G	A	74865224	3	1	5	1	0	0	0	0	1	0	0	0	919	1290	45	2	580	2	ARID3B	15	74865224	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	8870401	74865224	27666168	381	1500											
LINGO1	84894	broad.mit.edu	37	chr15	77907035	77907035	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagggaagtccttgaactccTtgccctggacaaactcgggc	9	8	11	13	1	0	1	0	1	0	0	3	3	2	3	3	3	3	0	3	3	3	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:77907035T>A	ENST00000355300.6	-	2	1388	c.1214A>T	c.(1213-1215)aAg>aTg	p.K405M	LINGO1_ENST00000561030.1_Missense_Mutation_p.K399M	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	405	LRRCT.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CTTGAACTCCTTGCCCTGGAC	0.662													7	11					0	0	0	0	A	77907035	T	A	77907035	3	1	5	1	0	0	0	0	1	0	0	0	8869	1609	56	5	652	5	LINGO1	15	77907035	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	3041811	77907035	24624357	382	1501											
BCL2A1	597	broad.mit.edu	37	chr15	80263104	80263104	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgaactccgcaacaaaatAtgaaatctccttataggtat	16	12	5	8	1	1	2	0	2	1	0	3	2	2	2	2	1	2	2	2	1	10	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:80263104A>G	ENST00000267953.3	-	1	684	c.358T>C	c.(358-360)Tat>Cat	p.Y120H	BCL2A1_ENST00000335661.6_Missense_Mutation_p.Y120H	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	120					anti-apoptosis|apoptosis	cytoplasm	protein binding	p.Y120H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						GCAACAAAATATGAAATCTCC	0.388													133	171					0	0	0	0	G	80263104	A	G	80263104	3	3	5	1	0	0	0	0	1	0	0	0	1370	449	16	5	237	5	BCL2A1	15	80263104	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	2356069	80263104	22268288	383	1502											
ACAN	176	broad.mit.edu	37	chr15	89388786	89388786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctttggagtggggggtgagGaggacatcaccgtccagaca	9	8	16	8	1	2	2	1	1	1	1	3	5	3	5	2	6	0	0	2	6	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:89388786G>A	ENST00000439576.2	+	7	1476	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	ACAN_ENST00000561243.1_Missense_Mutation_p.E368K|ACAN_ENST00000559004.1_Missense_Mutation_p.E368K|ACAN_ENST00000352105.7_Missense_Mutation_p.E368K|ACAN_ENST00000558207.1_Missense_Mutation_p.E368K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	368					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGGGGGTGAGGAGGACATCAC	0.572													28	38					0	0	0	0	A	89388786	G	A	89388786	3	1	5	1	0	0	0	0	1	0	0	0	117	1175	41	2	1124	2	ACAN	15	89388786	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	9125682	89388786	13142606	384	1503											
HS3ST4	9951	broad.mit.edu	37	chr16	26147209	26147209	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcgaatagggatctatgcGctgcatctggaaaactggct	11	11	11	8	2	2	0	0	0	2	0	3	3	2	2	0	3	3	3	0	3	5	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:26147209G>T	ENST00000331351.5	+	2	1403	c.1011G>T	c.(1009-1011)gcG>gcT	p.A337A	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	337					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GGATCTATGCGCTGCATCTGG	0.557													138	44					1.36653e-54	2.06732e-54	1	0	T	26147209	G	T	26147209	2	4	5	1	0	0	0	0	0	0	0	1	7417	1074	38	3		3	HS3ST4	16	26147209	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08		26147209	64207544	385	1504											
NKD1	85407	broad.mit.edu	37	chr16	50667328	50667328	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcactttgtgaggtcccccaAggcccagggcaagagtgtgg	8	7	15	11	0	0	2	0	1	0	1	1	2	1	2	3	4	0	2	3	4	2	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:50667328A>G	ENST00000268459.3	+	10	1273	c.1049A>G	c.(1048-1050)aAg>aGg	p.K350R		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	350					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGGTCCCCCAAGGCCCAGGGC	0.662													53	10					0	0	0	0	G	50667328	A	G	50667328	3	3	5	1	0	0	0	0	1	0	0	0	10511	72	3	5	1087	5	NKD1	16	50667328	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	24520119	50667328	39687425	386	1505											
CYLD	1540	broad.mit.edu	37	chr16	50785545	50785545	+	Frame_Shift_Del	DEL	G	G	-																															gtggtcaaggtttcactgacGgggtgtaccaagggaaacag																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:50785545delG	ENST00000540145.1	+	5	950	c.535delG	c.(535-537)ggfs	p.G179fs	CYLD_ENST00000568704.2_Frame_Shift_Del_p.G179fs|CYLD_ENST00000398568.2_Frame_Shift_Del_p.G179fs|CYLD_ENST00000311559.9_Frame_Shift_Del_p.G179fs|CYLD_ENST00000564326.1_Frame_Shift_Del_p.G179fs|CYLD_ENST00000427738.3_Frame_Shift_Del_p.G179fs|CYLD_ENST00000566206.1_Frame_Shift_Del_p.G179fs|CYLD_ENST00000569418.1_Frame_Shift_Del_p.G179fs			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	179	CAP-Gly 1.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TTTCACTGACGGGGTGTACCA	0.418			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				121	61	---	---	---	---					-	50785545	G	-	50785545	7	5	5	1	0	1	0	1	0	0	0	0	4175	1116	39	0	541	0	CYLD	16	50785545	Frame_Shift_Del	DEL	G	TCGA-BA-4078-01A-01D-1434-08	118217	50785545	39569208	387	1506											
CAPNS2	84290	broad.mit.edu	37	chr16	55601279	55601279	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaatgaagatggagataTggattttaacaatttcatca	15	14	8	4	0	2	3	2	1	0	2	2	5	2	4	0	2	2	1	0	2	5	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:55601279T>C	ENST00000457326.2	+	1	696	c.611T>C	c.(610-612)aTg>aCg	p.M204T	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	204	EF-hand 3.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GATGGAGATATGGATTTTAAC	0.478													198	66					0	0	0	0	C	55601279	T	C	55601279	3	2	5	1	0	0	0	0	1	0	0	0	2659	1464	51	5	613	5	CAPNS2	16	55601279	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	4815734	55601279	34753474	388	1507											
C16orf70	80262	broad.mit.edu	37	chr16	67168322	67168322	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagagtgtagatgttcttCgagatggaactggacctgca	10	11	13	7	1	1	3	0	1	1	3	2	7	1	5	1	2	2	3	1	2	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:67168322C>T	ENST00000219139.3	+	8	801	c.613C>T	c.(613-615)Cga>Tga	p.R205*	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Nonsense_Mutation_p.R205*	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	205										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AGATGTTCTTCGAGATGGAAC	0.512													246	77					0	0	0	0	T	67168322	C	T	67168322	4	4	5	1	0	0	0	0	0	1	0	0	1842	876	31	1	643	1	C16orf70	16	67168322	Nonsense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	11567043	67168322	23186431	389	1508											
CENPT	80152	broad.mit.edu	37	chr16	67862385	67862385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgccttctcaccgccgcatCagcagctccaggtcctctgg	5	8	9	19	3	3	0	2	0	2	0	6	0	5	0	6	2	2	3	6	2	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:67862385C>T	ENST00000562787.1	-	15	2102	c.1554G>A	c.(1552-1554)ctG>ctA	p.L518L	CENPT_ENST00000564817.1_Silent_p.L463L|CENPT_ENST00000440851.2_Silent_p.L518L|CENPT_ENST00000219172.3_Silent_p.L518L	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	518					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		ACCGCCGCATCAGCAGCTCCA	0.562													109	31					0	0	0	0	T	67862385	C	T	67862385	2	4	5	1	0	0	0	0	0	0	0	1	3271	813	29	2		2	CENPT	16	67862385	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	694063	67862385	22492368	390	1509											
DDX28	55794	broad.mit.edu	37	chr16	68056395	68056395	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatgccgtggcctccctcCaggtcccgcaccagcaggcc	5	5	11	20	3	0	0	0	0	0	0	3	0	3	0	7	3	2	3	7	3	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:68056395C>A	ENST00000332395.5	-	1	1375	c.711G>T	c.(709-711)ctG>ctT	p.L237L		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	237	Helicase ATP-binding.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		GGCCTCCCTCCAGGTCCCGCA	0.657													30	8					7.68411e-24	9.64602e-24	1	0	A	68056395	C	A	68056395	2	1	5	1	0	0	0	0	0	0	0	1	4387	581	21	4		4	DDX28	16	68056395	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	194010	68056395	22298358	391	1510											
GLG1	2734	broad.mit.edu	37	chr16	74519693	74519693	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatggagaagataacttaCattgggtctccagatcttat	13	12	8	8	0	2	3	0	0	2	3	3	4	2	3	2	2	2	0	2	2	4	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:74519693C>T	ENST00000422840.2	-	9	1571		c.e9+1		GLG1_ENST00000205061.5_Splice_Site|GLG1_ENST00000447066.2_Splice_Site	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1							Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AGATAACTTACATTGGGTCTC	0.408													68	23					0	0	0	0	T	74519693	C	T	74519693	5	4	5	1	0	0	0	0	0	0	1	0	6487	492	17	4	2119	4	GLG1	16	74519693	Splice_Site	SNP	C	TCGA-BA-4078-01A-01D-1434-08	6463298	74519693	15835060	392	1511											
KIF1C	10749	broad.mit.edu	37	chr17	4908161	4908161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacccaggtatgctgaccGcaccaagcaaatccgctgca	11	6	9	15	2	1	1	1	1	0	0	2	1	2	1	4	1	3	6	4	1	3	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:4908161G>A	ENST00000320785.5	+	13	1388	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	344					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	p.R344H(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TATGCTGACCGCACCAAGCAA	0.612													4	222					0	0	0	0	A	4908161	G	A	4908161	3	1	5	1	0	0	0	0	1	0	0	0	8336	1087	38	1	1073	1	KIF1C	17	4908161	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08		4908161	76287049	393	1512											
TP53	7157	broad.mit.edu	37	chr17	7577610	7577610	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtacagtcagagccaaccTaggagataacacaggcccaa	15	5	10	11	0	1	2	1	0	0	2	1	3	1	2	3	3	4	1	3	3	5	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:7577610T>C	ENST00000420246.2	-	7	805		c.e7-2		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGAGCCAACCTAGGAGATAAC	0.522		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			53	10					0	0	0	0	C	7577610	T	C	7577610	5	2	5	1	0	0	0	0	0	0	1	0	16476	1536	53	5	619	5	TP53	17	7577610	Splice_Site	SNP	T	TCGA-BA-4078-01A-01D-1434-08	2669449	7577610	73617600	394	1513											
MYH10	4628	broad.mit.edu	37	chr17	8526248	8526248	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcctgaatagtagcgatccTtcagattatgtaaaacggaa	14	11	9	7	2	1	2	1	1	0	1	3	4	3	3	2	1	2	2	2	1	7	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:8526248T>C	ENST00000360416.3	-	2	455	c.317A>G	c.(316-318)aAg>aGg	p.K106R	MYH10_ENST00000269243.4_Missense_Mutation_p.K106R|MYH10_ENST00000396239.1_Missense_Mutation_p.K106R|MYH10_ENST00000379980.4_Missense_Mutation_p.K106R	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	106	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GTAGCGATCCTTCAGATTATG	0.343													93	112					0	0	0	0	C	8526248	T	C	8526248	3	2	5	1	0	0	0	0	1	0	0	0	10100	1609	56	5	5773	5	MYH10	17	8526248	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	948638	8526248	72668962	395	1514											
DHRS7C	201140	broad.mit.edu	37	chr17	9683345	9683345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaacaggaccagctttgggGtgaatgtctgctgaaccaat	11	9	11	10	0	1	2	0	2	1	0	1	3	1	3	3	3	4	2	3	3	4	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:9683345G>T	ENST00000330255.4	-	3	290	c.278C>A	c.(277-279)aCc>aAc	p.T93N	DHRS7C_ENST00000571134.1_Missense_Mutation_p.T92N	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	93						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CAGCTTTGGGGTGAATGTCTG	0.507													16	31					6.94344e-10	7.58635e-10	1	0	T	9683345	G	T	9683345	3	4	5	1	0	0	0	0	1	0	0	0	4534	1261	44	4	676	4	DHRS7C	17	9683345	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1157097	9683345	71511865	396	1515											
MYH13	8735	broad.mit.edu	37	chr17	10265781	10265781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatcttgtcaaatttgggagGgttcatggggaagacctggt	9	12	15	5	0	3	1	2	0	1	1	3	4	3	3	1	5	0	1	1	5	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:10265781G>T	ENST00000418404.3	-	3	407	c.244C>A	c.(244-246)Cct>Act	p.P82T	MYH13_ENST00000252172.4_Missense_Mutation_p.P82T|MYH13_ENST00000570743.1_Missense_Mutation_p.P82T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	82	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AATTTGGGAGGGTTCATGGGG	0.478													94	164					1.52783e-54	2.30595e-54	1	0	T	10265781	G	T	10265781	3	4	5	1	0	0	0	0	1	0	0	0	10102	1232	43	4	5724	4	MYH13	17	10265781	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	582436	10265781	70929429	397	1516											
MYH1	4619	broad.mit.edu	37	chr17	10408506	10408506	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccattttctggtactcCactcttgccaagaaccctct	8	13	4	16	0	3	1	0	0	3	1	5	1	5	1	5	1	3	1	5	1	3	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:10408506C>A	ENST00000226207.5	-	21	2503	c.2409G>T	c.(2407-2409)gtG>gtT	p.V803V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	803	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTGGTACTCCACTCTTGCCA	0.433													44	114					1.23713e-20	1.47863e-20	1	0	A	10408506	C	A	10408506	2	1	5	1	0	0	0	0	0	0	0	1	10099	581	21	4		4	MYH1	17	10408506	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	142725	10408506	70786704	398	1517											
DNAH9	1770	broad.mit.edu	37	chr17	11607761	11607761	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgattgctcagaaggTgggtcccaaacatccaggga	13	7	12	9	0	1	3	1	1	0	2	3	4	3	4	2	3	2	1	2	3	3	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:11607761T>C	ENST00000262442.3	+	25	5459		c.e25+2		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTCAGAAGGTGGGTCCCAAA	0.522													28	55					0	0	0	0	C	11607761	T	C	11607761	5	2	5	1	0	0	0	0	0	0	1	0	4644	1710	59	5	5491	5	DNAH9	17	11607761	Splice_Site	SNP	T	TCGA-BA-4078-01A-01D-1434-08	1199255	11607761	69587449	399	1518											
RAI1	10743	broad.mit.edu	37	chr17	17698946	17698946	+	Frame_Shift_Del	DEL	C	C	-																															ggacccgctgtcacccaaggCcccactcatctgcaccaagg																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:17698946delC	ENST00000353383.1	+	3	3153	c.2684delC	c.(2683-2685)gcfs	p.A895fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.A895fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	895						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCACCCAAGGCCCCACTCATC	0.652													31	47	---	---	---	---					-	17698946	C	-	17698946	7	5	5	1	0	1	0	1	0	0	0	0	13089	739	26	0	2686	0	RAI1	17	17698946	Frame_Shift_Del	DEL	C	TCGA-BA-4078-01A-01D-1434-08	6091185	17698946	63496264	400	1519											
MEOX1	4222	broad.mit.edu	37	chr17	41738516	41738516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accccgtagtcatcgcctggGcctcctgtggtgtccaccag	5	9	11	16	2	1	0	1	0	0	0	4	0	3	0	7	2	0	1	7	2	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:41738516G>A	ENST00000549132.1	-	1	415	c.299C>T	c.(298-300)gCc>gTc	p.A100V	MEOX1_ENST00000329168.3_Silent_p.G129G|MEOX1_ENST00000318579.4_Silent_p.G129G|MEOX1_ENST00000393661.2_Silent_p.G14G			P50221	MEOX1_HUMAN	mesenchyme homeobox 1	14						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CATCGCCTGGGCCTCCTGTGG	0.627													150	199					0	0	0	0	A	41738516	G	A	41738516	3	1	5	1	0	0	0	0	1	0	0	0	9542	1190	42	4	389	4	MEOX1	17	41738516	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	24039570	41738516	39456694	401	1520											
GPATCH8	23131	broad.mit.edu	37	chr17	42476285	42476285	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttactgtcatctcctcTgccatcatctttcttcccag	5	17	4	15	0	6	0	2	0	4	0	8	0	7	0	3	0	3	1	3	0	1	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:42476285T>A	ENST00000434000.1	-	9	3208	c.2926A>T	c.(2926-2928)Aga>Tga	p.R976*	GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.R1054*			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1054	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCATCTCCTCTGCCATCATCT	0.537													55	65					0	0	0	0	A	42476285	T	A	42476285	4	1	5	1	0	0	0	0	0	1	0	0	6643	1588	55	5	1352	5	GPATCH8	17	42476285	Nonsense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	737769	42476285	38718925	402	1521											
C17orf104	284071	broad.mit.edu	37	chr17	42744329	42744330	+	Frame_Shift_Ins	INS	-	-	A																															attttagtgtccaagatagcINSaaaaaattagccaatggcac																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:42744329_42744330insA	ENST00000409122.2	+	5	1192_1193	c.1050_1051insA	c.(1048-1053)agaaaafs	p.RK350fs	C17orf104_ENST00000409464.1_Frame_Shift_Ins_p.RK184fs|C17orf104_ENST00000359945.3_Frame_Shift_Ins_p.RK350fs	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	350										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TCCAAGATAGCAAAAAATTAGC	0.347													11	22	---	---	---	---					A	42744330	-	A	42744329	7	5	5	1	0	1	1	0	0	0	0	0	1864	709	25	0	1068	0	C17orf104	17	42744329	Frame_Shift_Ins	INS	-	TCGA-BA-4078-01A-01D-1434-08	268044	42744329	38450881	403	1522											
MRC2	9902	broad.mit.edu	37	chr17	60755933	60755933	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggggcctgccaggagctGggggcccagctgctgagcct	5	5	18	13	0	0	1	0	1	0	0	0	2	0	2	4	5	5	3	4	5	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:60755933G>T	ENST00000303375.5	+	13	2523	c.2121G>T	c.(2119-2121)ctG>ctT	p.L707L		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	707	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCCAGGAGCTGGGGGCCCAGC	0.627													20	31					3.01185e-09	3.26871e-09	1	0	T	60755933	G	T	60755933	2	4	5	1	0	0	0	0	0	0	0	1	9828	1335	47	4		4	MRC2	17	60755933	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	18011604	60755933	20439277	404	1523											
TANC2	26115	broad.mit.edu	37	chr17	61489388	61489388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtagatcatggggccatGatcgagcacgttgactacag	10	9	13	9	2	1	3	1	2	0	1	2	4	1	3	1	3	2	3	1	3	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:61489388G>A	ENST00000424789.2	+	21	3577	c.3573G>A	c.(3571-3573)atG>atA	p.M1191I	AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.M1191I|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1191							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATGGGGCCATGATCGAGCACG	0.542													43	41					0	0	0	0	A	61489388	G	A	61489388	3	1	5	1	0	0	0	0	1	0	0	0	15636	1290	45	2	3655	2	TANC2	17	61489388	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	733455	61489388	19705822	405	1524											
DDX42	11325	broad.mit.edu	37	chr17	61893008	61893008	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcctaggctacagggagcGgcctggcctgggctctgaga	7	6	17	11	1	1	1	0	1	1	1	1	3	1	2	3	6	2	2	3	6	2	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:61893008G>T	ENST00000578681.1	+	17	2589	c.1988G>T	c.(1987-1989)cGg>cTg	p.R663L	DDX42_ENST00000457800.2_Missense_Mutation_p.R663L|DDX42_ENST00000389924.2_Missense_Mutation_p.R663L|DDX42_ENST00000359353.5_Missense_Mutation_p.R544L|DDX42_ENST00000583590.1_Missense_Mutation_p.R663L	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	663					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TACAGGGAGCGGCCTGGCCTG	0.463													47	101					2.74695e-27	3.55134e-27	1	0	T	61893008	G	T	61893008	3	4	5	1	0	0	0	0	1	0	0	0	4394	1116	39	3	2046	3	DDX42	17	61893008	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	403620	61893008	19302202	406	1525											
TEX2	55852	broad.mit.edu	37	chr17	62291206	62291206	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgtacttaatacttgTgctgctggaacaggggactc	9	11	12	9	0	0	0	0	0	0	0	1	2	0	2	0	4	5	4	0	4	4	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:62291206T>C	ENST00000258991.3	-	2	456	c.372A>G	c.(370-372)gcA>gcG	p.A124A	TEX2_ENST00000583097.1_Silent_p.A124A|TEX2_ENST00000584379.1_Silent_p.A124A			Q8IWB9	TEX2_HUMAN	testis expressed 2	124					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TTAATACTTGTGCTGCTGGAA	0.562													107	118					0	0	0	0	C	62291206	T	C	62291206	2	2	5	1	0	0	0	0	0	0	0	1	15875	1683	59	5		5	TEX2	17	62291206	Silent	SNP	T	TCGA-BA-4078-01A-01D-1434-08	398198	62291206	18904004	407	1526											
ABCA9	10350	broad.mit.edu	37	chr17	67041454	67041454	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatccatgcttttttcatCaggccaccccatgattgttc	7	16	5	13	0	3	1	3	1	0	0	5	1	4	1	4	1	1	2	4	1	0	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:67041454C>G	ENST00000340001.4	-	4	539	c.328G>C	c.(328-330)Gat>Cat	p.D110H	ABCA9_ENST00000495634.1_Missense_Mutation_p.D110H|ABCA9_ENST00000370732.2_Missense_Mutation_p.D110H|ABCA9_ENST00000453985.2_Missense_Mutation_p.D110H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	110					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTTTTTTCATCAGGCCACCCC	0.378													61	123					0	0	0	0	G	67041454	C	G	67041454	3	3	5	1	0	0	0	0	1	0	0	0	39	826	29	2	4690	2	ABCA9	17	67041454	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	4750248	67041454	14153756	408	1527											
TRIM47	91107	broad.mit.edu	37	chr17	73871028	73871028	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctcgataatctccacctCccagtagtaggtgcctcggt	7	10	9	15	2	1	0	0	0	1	0	5	1	2	0	5	2	1	2	5	2	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:73871028C>A	ENST00000254816.2	-	6	1479	c.1453G>T	c.(1453-1455)Gag>Tag	p.E485*	TRIM47_ENST00000587339.1_Nonsense_Mutation_p.E247*	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	485	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATCTCCACCTCCCAGTAGTAG	0.647													50	68					5.39261e-20	6.4099e-20	1	0	A	73871028	C	A	73871028	4	1	5	1	0	0	0	0	0	1	0	0	16617	864	30	2	467	2	TRIM47	17	73871028	Nonsense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	6829574	73871028	7324182	409	1528											
FASN	2194	broad.mit.edu	37	chr17	80041269	80041269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcatccagtaggaccccgtGgaatgtcacgttcttcagga	9	9	11	12	3	3	0	2	0	1	0	4	3	4	3	3	3	0	3	3	3	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:80041269G>A	ENST00000306749.2	-	32	5592	c.5374C>T	c.(5374-5376)Cac>Tac	p.H1792Y		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1792	Enoyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGGACCCCGTGGAATGTCACG	0.652													35	48					0	0	0	0	A	80041269	G	A	80041269	3	1	5	1	0	0	0	0	1	0	0	0	5728	1348	47	4	2209	4	FASN	17	80041269	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	6170241	80041269	1153941	410	1529											
CCDC57	284001	broad.mit.edu	37	chr17	80159756	80159756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggtgtgcctgcagcgccCtccactcctcctccttgcga	3	10	10	18	3	0	0	0	0	0	0	4	1	4	0	6	1	5	1	6	1	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:80159756C>T	ENST00000392347.1	-	2	101	c.65G>A	c.(64-66)aGg>aAg	p.R22K	CCDC57_ENST00000389641.4_Missense_Mutation_p.R22K|CCDC57_ENST00000392343.3_Missense_Mutation_p.R22K	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	22										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTGCAGCGCCCTCCACTCCTC	0.657													13	34					0	0	0	0	T	80159756	C	T	80159756	3	4	5	1	0	0	0	0	1	0	0	0	2854	681	24	4	2746	4	CCDC57	17	80159756	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	118487	80159756	1035454	411	1530											
NDC80	10403	broad.mit.edu	37	chr18	2610796	2610796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccacgactgaagaaagacGaaaagtgggaaataacttgc	19	5	10	7	2	0	3	0	1	0	2	0	6	0	4	1	1	3	0	1	1	7	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:2610796G>A	ENST00000261597.4	+	16	1909	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	576	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GAAGAAAGACGAAAAGTGGGA	0.378													85	132					0	0	0	0	A	2610796	G	A	2610796	3	1	5	1	0	0	0	0	1	0	0	0	10312	1058	37	1	1785	1	NDC80	18	2610796	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08		2610796	75466452	412	1531											
LAMA1	284217	broad.mit.edu	37	chr18	7016587	7016587	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgacactggccttcatcCgtgcagccatctgacacgga	9	8	10	14	2	2	2	1	2	1	0	3	3	3	3	3	2	2	1	3	2	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:7016587C>A	ENST00000389658.3	-	21	2985	c.2892G>T	c.(2890-2892)acG>acT	p.T964T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	964	Laminin EGF-like 10.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCTTCATCCGTGCAGCCAT	0.592													27	19					1.74807e-11	1.95266e-11	1	0	A	7016587	C	A	7016587	2	1	5	1	0	0	0	0	0	0	0	1	8658	639	23	3		3	LAMA1	18	7016587	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	4405791	7016587	71060661	413	1532											
TUBB6	84617	broad.mit.edu	37	chr18	12325303	12325303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccttcagcgtcatgccctCgcccaaggtgtcggacacgg	7	7	11	16	4	2	0	2	0	0	0	4	1	2	1	3	3	2	0	3	3	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:12325303C>T	ENST00000317702.5	+	4	749	c.515C>T	c.(514-516)tCg>tTg	p.S172L	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	172					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GTCATGCCCTCGCCCAAGGTG	0.617													98	103					0	0	0	0	T	12325303	C	T	12325303	3	4	5	1	0	0	0	0	1	0	0	0	16856	893	31	1	529	1	TUBB6	18	12325303	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	5308716	12325303	65751945	414	1533											
ROCK1	6093	broad.mit.edu	37	chr18	18535194	18535194	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggttacaggtctaacGtgaaacagtttactaaaatg	13	12	9	7	1	1	1	0	1	1	0	1	1	1	1	1	2	4	2	1	2	6	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:18535194G>C	ENST00000399799.1	-	30	4465	c.3525C>G	c.(3523-3525)caC>caG	p.H1175Q		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1175	Auto-inhibitory.|PH.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CAGGTCTAACGTGAAACAGTT	0.289													14	23					0	0	0	0	C	18535194	G	C	18535194	3	2	5	1	0	0	0	0	1	0	0	0	13602	1136	40	3	555	3	ROCK1	18	18535194	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	6209891	18535194	59542054	415	1534											
MAPRE2	10982	broad.mit.edu	37	chr18	32681988	32681988	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatggtttaagaaattctatGatgctaactacgatgggaag	15	12	10	4	1	1	2	0	1	1	1	1	4	1	3	0	2	3	2	0	2	7	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:32681988G>C	ENST00000436190.2	+	5	713	c.439G>C	c.(439-441)Gat>Cat	p.D147H	MAPRE2_ENST00000413393.1_Missense_Mutation_p.D116H|MAPRE2_ENST00000300249.5_Missense_Mutation_p.D159H|MAPRE2_ENST00000589699.1_Missense_Mutation_p.D116H|MAPRE2_ENST00000538170.2_Missense_Mutation_p.D106H|MAPRE2_ENST00000588910.1_Missense_Mutation_p.D159H	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	159	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						GAAATTCTATGATGCTAACTA	0.433													44	54					0	0	0	0	C	32681988	G	C	32681988	3	2	5	1	0	0	0	0	1	0	0	0	9364	1290	45	2	583	2	MAPRE2	18	32681988	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	14146794	32681988	45395260	416	1535											
LIPG	9388	broad.mit.edu	37	chr18	47108775	47108775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgtcttcagttacaagaaCatgggagaaattgagcccac	14	9	9	9	0	2	3	1	1	1	2	2	4	2	3	1	1	3	1	1	1	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:47108775C>T	ENST00000261292.4	+	7	1358	c.1080C>T	c.(1078-1080)aaC>aaT	p.N360N	LIPG_ENST00000427224.2_Silent_p.N286N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	360	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GTTACAAGAACATGGGAGAAA	0.443													43	89					0	0	0	0	T	47108775	C	T	47108775	2	4	5	1	0	0	0	0	0	0	0	1	8878	477	17	4		4	LIPG	18	47108775	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	14426787	47108775	30968473	417	1536											
DCC	1630	broad.mit.edu	37	chr18	50450086	50450086	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctcatagatccaggacTgcatagacagctgtattttc	10	12	7	12	0	1	2	1	0	0	2	4	3	3	3	3	1	2	3	3	1	3	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:50450086T>A	ENST00000442544.2	+	4	1323	c.707T>A	c.(706-708)cTg>cAg	p.L236Q	DCC_ENST00000412726.1_Missense_Mutation_p.L84Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	236	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GATCCAGGACTGCATAGACAG	0.363													39	97					0	0	0	0	A	50450086	T	A	50450086	3	1	5	1	0	0	0	0	1	0	0	0	4314	1580	55	5	721	5	DCC	18	50450086	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	3341311	50450086	27627162	418	1537											
DCC	1630	broad.mit.edu	37	chr18	51013172	51013172	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcttttgcagctgtcGtgagcgccatcccggtgcca	4	14	10	13	3	1	1	0	1	1	0	3	1	2	1	3	1	4	2	3	1	0	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:51013172G>C	ENST00000442544.2	+	26	4358	c.3742G>C	c.(3742-3744)Gtg>Ctg	p.V1248L	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.V883L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1248					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.V1248M(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCAGCTGTCGTGAGCGCCAT	0.488													80	100					0	0	0	0	C	51013172	G	C	51013172	3	2	5	1	0	0	0	0	1	0	0	0	4314	1145	40	3	3844	3	DCC	18	51013172	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	563086	51013172	27064076	419	1538											
PIGN	23556	broad.mit.edu	37	chr18	59821827	59821827	+	Frame_Shift_Del	DEL	C	C	-																															gttttgttgcatcttgagcaCcaaaatcctctcttttagca																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:59821827delC	ENST00000357637.5	-	7	915	c.500delG	c.(499-501)gtfs	p.G167fs	PIGN_ENST00000400334.3_Frame_Shift_Del_p.G167fs	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	167					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ATCTTGAGCACCAAAATCCTC	0.313													77	200	---	---	---	---					-	59821827	C	-	59821827	7	5	5	1	0	1	0	1	0	0	0	0	11965	507	18	0	2395	0	PIGN	18	59821827	Frame_Shift_Del	DEL	C	TCGA-BA-4078-01A-01D-1434-08	8808655	59821827	18255421	420	1539											
CDH7	1005	broad.mit.edu	37	chr18	63489364	63489364	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatagagaggctaaagacCagtatttgcttgtcattcag	12	12	11	6	0	2	2	2	0	0	2	2	4	2	3	1	2	1	3	1	2	4	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:63489364C>A	ENST00000536984.2	+	5	1367	c.673C>A	c.(673-675)Cag>Aag	p.Q225K	CDH7_ENST00000397968.2_Missense_Mutation_p.Q225K|CDH7_ENST00000323011.3_Missense_Mutation_p.Q225K			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	225	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGCTAAAGACCAGTATTTGCT	0.403													43	60					1.02591e-13	1.15794e-13	1	0	A	63489364	C	A	63489364	3	1	5	1	0	0	0	0	1	0	0	0	3144	595	21	4	687	4	CDH7	18	63489364	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	3667537	63489364	14587884	421	1540											
ZNF407	55628	broad.mit.edu	37	chr18	72344239	72344239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgagcgaaatattctcGtgttgggtaatagctttcgt	9	14	11	7	3	1	1	0	1	1	0	3	3	1	1	1	1	2	3	1	1	4	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:72344239G>T	ENST00000299687.5	+	1	1264	c.1264G>T	c.(1264-1266)Gtg>Ttg	p.V422L	ZNF407_ENST00000582337.1_Missense_Mutation_p.V422L|ZNF407_ENST00000577538.1_Missense_Mutation_p.V422L|ZNF407_ENST00000309902.6_Missense_Mutation_p.V422L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAATATTCTCGTGTTGGGTAA	0.433													51	63					2.74695e-27	3.55134e-27	1	0	T	72344239	G	T	72344239	3	4	5	1	0	0	0	0	1	0	0	0	17982	1145	40	3	1266	3	ZNF407	18	72344239	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	8854875	72344239	5733009	422	1541											
PIP5K1C	23396	broad.mit.edu	37	chr19	3664871	3664871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacctcgatggcccaacttCttcccatggccagggcccgg	7	7	10	17	2	1	0	0	0	1	0	3	1	2	0	5	4	1	0	5	4	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:3664871C>T	ENST00000335312.3	-	3	256	c.168G>A	c.(166-168)aaG>aaA	p.K56K	PIP5K1C_ENST00000537021.1_Silent_p.K56K|PIP5K1C_ENST00000539785.1_Silent_p.K56K|PIP5K1C_ENST00000589578.1_Silent_p.K56K|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	56					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCCAACTTCTTCCCATGGC	0.632													90	121					0	0	0	0	T	3664871	C	T	3664871	2	4	5	1	0	0	0	0	0	0	0	1	12013	912	32	2		2	PIP5K1C	19	3664871	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08		3664871	55464112	423	1542											
ANKRD24	170961	broad.mit.edu	37	chr19	4200161	4200161	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatgtcatgagcgcggaCggggcaggtactgccagctg	9	6	16	10	3	1	1	1	1	0	0	1	2	1	2	1	4	5	4	1	4	2	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:4200161C>T	ENST00000600132.1	+	5	612	c.336C>T	c.(334-336)gaC>gaT	p.D112D	ANKRD24_ENST00000318934.4_Silent_p.D112D|ANKRD24_ENST00000262970.5_Silent_p.D202D	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	112										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TGAGCGCGGACGGGGCAGGTA	0.652													3	17					0	0	0	0	T	4200161	C	T	4200161	2	4	5	1	0	0	0	0	0	0	0	1	653	535	19	1		1	ANKRD24	19	4200161	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	535290	4200161	54928822	424	1543											
KDM4B	23030	broad.mit.edu	37	chr19	5134010	5134010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggccgagaggaagttcaacGcagcggctgcgcgcacggag	10	3	17	11	6	1	1	1	0	0	1	1	4	1	3	1	4	3	4	1	4	2	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:5134010G>T	ENST00000159111.4	+	14	2241	c.2023G>T	c.(2023-2025)Gca>Tca	p.A675S	KDM4B_ENST00000536461.1_Missense_Mutation_p.A709S	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	675					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GAAGTTCAACGCAGCGGCTGC	0.667													93	139					7.0407e-44	1.01996e-43	1	0	T	5134010	G	T	5134010	3	4	5	1	0	0	0	0	1	0	0	0	8182	1087	38	3	2069	3	KDM4B	19	5134010	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	933849	5134010	53994973	425	1544											
TNFSF14	8740	broad.mit.edu	37	chr19	6664993	6664993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacgcagtcgaaccaggcGttcatccagcacacggacga	12	5	10	14	5	2	0	2	0	0	0	4	3	3	1	2	2	2	3	2	2	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:6664993G>A	ENST00000326176.9	-	5	940	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	TNFSF14_ENST00000245912.3_Missense_Mutation_p.R187C|TNFSF14_ENST00000599359.1_Missense_Mutation_p.R223C	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	223					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	p.R223C(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CGAACCAGGCGTTCATCCAGC	0.612													109	155					0	0	0	0	A	6664993	G	A	6664993	3	1	5	1	0	0	0	0	1	0	0	0	16401	1145	40	1	59	1	TNFSF14	19	6664993	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1530983	6664993	52463990	426	1545											
MUC16	94025	broad.mit.edu	37	chr19	9007503	9007503	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacttgtggggctggggacGggggatggagtccctgaggt	5	10	20	6	1	0	1	0	1	0	0	1	4	1	4	1	8	1	1	1	8	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:9007503G>T	ENST00000397910.4	-	43	39668	c.39465C>A	c.(39463-39465)ccC>ccA	p.P13155P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13157					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						GGCTGGGGACGGGGGATGGAG	0.463													13	32					3.32936e-07	3.54804e-07	1	0	T	9007503	G	T	9007503	2	4	5	1	0	0	0	0	0	0	0	1	10043	1103	39	3		3	MUC16	19	9007503	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	2342510	9007503	50121480	427	1546											
MUC16	94025	broad.mit.edu	37	chr19	9026207	9026207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccagaccctgcaggacaCtctccatggtgttgaacttc	10	10	8	13	0	1	2	0	1	1	1	3	3	1	3	3	2	3	2	3	2	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:9026207C>A	ENST00000397910.4	-	14	36982	c.36779G>T	c.(36778-36780)aGt>aTt	p.S12260I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12262	SEA 2.				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						CTGCAGGACACTCTCCATGGT	0.552													143	192					6.37441e-58	9.71125e-58	1	0	A	9026207	C	A	9026207	3	1	5	1	0	0	0	0	1	0	0	0	10043	565	20	4	7028	4	MUC16	19	9026207	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	18704	9026207	50102776	428	1547											
MUC16	94025	broad.mit.edu	37	chr19	9072003	9072003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatttgagttgtggctttgGgtgtctctgagtcagccagt	5	15	13	8	0	2	2	1	2	1	0	3	2	2	2	2	2	1	2	2	2	0	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:9072003G>T	ENST00000397910.4	-	3	15646	c.15443C>A	c.(15442-15444)cCc>cAc	p.P5148H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5150	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						TGTGGCTTTGGGTGTCTCTGA	0.458													132	167					5.80972e-51	8.70788e-51	1	0	T	9072003	G	T	9072003	3	4	5	1	0	0	0	0	1	0	0	0	10043	1232	43	4	28408	4	MUC16	19	9072003	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	45796	9072003	50056980	429	1548											
ILF3	3609	broad.mit.edu	37	chr19	10794209	10794209	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagagggggaccgaaattTgctgctaaggtgagcagtgg	10	8	17	6	1	1	2	1	1	0	1	1	4	1	3	1	4	3	3	1	4	2	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:10794209T>C	ENST00000449870.1	+	15	2171	c.1854T>C	c.(1852-1854)ttT>ttC	p.F618F	ILF3_ENST00000592763.1_Silent_p.F618F|ILF3_ENST00000589998.1_Silent_p.F614F|ILF3_ENST00000250241.8_Silent_p.F614F|ILF3_ENST00000590261.1_Silent_p.F614F|ILF3_ENST00000318511.3_Silent_p.F614F|ILF3_ENST00000420083.1_Silent_p.F614F|ILF3_ENST00000588657.1_Silent_p.F618F|ILF3_ENST00000407004.3_Silent_p.F618F	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	614	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GACCGAAATTTGCTGCTAAGG	0.537													75	118					0	0	0	0	C	10794209	T	C	10794209	2	2	5	1	0	0	0	0	0	0	0	1	7765	1809	63	5		5	ILF3	19	10794209	Silent	SNP	T	TCGA-BA-4078-01A-01D-1434-08	1722206	10794209	48334774	430	1549											
RGL3	57139	broad.mit.edu	37	chr19	11510943	11510943	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggggcaggaggcagcTggtggctcaatgacccggga	8	5	19	9	1	1	1	1	1	0	0	1	4	1	3	1	7	2	5	1	7	1	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:11510943T>C	ENST00000380456.3	-	14	1578	c.1515A>G	c.(1513-1515)ccA>ccG	p.P505P	RGL3_ENST00000393423.3_Silent_p.P505P	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	505	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGGAGGCAGCTGGTGGCTCAA	0.612													44	83					0	0	0	0	C	11510943	T	C	11510943	2	2	5	1	0	0	0	0	0	0	0	1	13360	1567	55	5		5	RGL3	19	11510943	Silent	SNP	T	TCGA-BA-4078-01A-01D-1434-08	716734	11510943	47618040	431	1550											
ZNF442	79973	broad.mit.edu	37	chr19	12461204	12461204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggtccatctccagtgtGcattatcatatgacttcgaa	10	13	9	9	1	2	2	1	2	1	0	5	3	3	2	2	1	1	1	2	1	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:12461204G>A	ENST00000242804.4	-	6	1777	c.1195C>T	c.(1195-1197)Cac>Tac	p.H399Y	ZNF442_ENST00000438182.1_Missense_Mutation_p.H330Y	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCTCCAGTGTGCATTATCATA	0.428													168	241					0	0	0	0	A	12461204	G	A	12461204	3	1	5	1	0	0	0	0	1	0	0	0	18010	1319	46	4	692	4	ZNF442	19	12461204	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	950261	12461204	46667779	432	1551											
WIZ	58525	broad.mit.edu	37	chr19	15558935	15558935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagatgccacctctgccatCcagaatgtctcgggggccct	8	8	11	14	1	2	2	0	0	2	2	4	3	3	2	5	2	2	0	5	2	1	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:15558935C>A	ENST00000389282.4	-	2	397	c.184G>T	c.(184-186)Gat>Tat	p.D62Y	WIZ_ENST00000263381.6_Missense_Mutation_p.D62Y			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	62						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CCTCTGCCATCCAGAATGTCT	0.627													88	135					7.22319e-40	1.02355e-39	1	0	A	15558935	C	A	15558935	3	1	5	1	0	0	0	0	1	0	0	0	17471	855	30	2	2228	2	WIZ	19	15558935	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	3097731	15558935	43570048	433	1552											
EPS15L1	58513	broad.mit.edu	37	chr19	16532206	16532206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggccactcacgtagcCatccaggtccaggtcggtct	6	9	10	16	2	2	0	1	0	1	0	6	0	5	0	5	4	1	1	5	4	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:16532206C>A	ENST00000602009.1	-	4	1307	c.412G>T	c.(412-414)Ggc>Tgc	p.G138C	EPS15L1_ENST00000248070.6_Missense_Mutation_p.G292C|EPS15L1_ENST00000455140.2_Missense_Mutation_p.G292C|EPS15L1_ENST00000597937.1_Missense_Mutation_p.G292C|EPS15L1_ENST00000594975.1_Missense_Mutation_p.G292C|EPS15L1_ENST00000535753.2_Missense_Mutation_p.G292C			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	292	EH 2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTCACGTAGCCATCCAGGTCC	0.537													57	58					3.16986e-14	3.58404e-14	1	0	A	16532206	C	A	16532206	3	1	5	1	0	0	0	0	1	0	0	0	5231	594	21	4	1776	4	EPS15L1	19	16532206	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	973271	16532206	42596777	434	1553											
OCEL1	79629	broad.mit.edu	37	chr19	17337113	17337113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatccaggctcggagctccaGacgctgggacaggtgacccg	8	5	15	13	3	0	2	0	1	0	1	3	5	2	4	3	4	1	3	3	4	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:17337113G>C	ENST00000215061.4	+	1	101	c.57G>C	c.(55-57)caG>caC	p.Q19H	OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Missense_Mutation_p.Q19H	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	19										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CGGAGCTCCAGACGCTGGGAC	0.692													3	12					0	0	0	0	C	17337113	G	C	17337113	3	2	5	1	0	0	0	0	1	0	0	0	10887	933	33	2	59	2	OCEL1	19	17337113	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	804907	17337113	41791870	435	1554											
FCHO1	23149	broad.mit.edu	37	chr19	17886888	17886888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcaagcctgccccggcccGggctccagcctgcagccccg	5	4	11	21	3	1	0	1	0	0	0	2	0	2	0	8	2	5	2	8	2	1	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:17886888G>T	ENST00000594202.1	+	16	1379	c.1100G>T	c.(1099-1101)cGg>cTg	p.R367L	FCHO1_ENST00000600676.1_Missense_Mutation_p.R367L|FCHO1_ENST00000595033.1_Missense_Mutation_p.R317L|FCHO1_ENST00000539407.1_Missense_Mutation_p.R367L|FCHO1_ENST00000389133.4_Missense_Mutation_p.R367L|FCHO1_ENST00000597512.1_Missense_Mutation_p.R374L|FCHO1_ENST00000596536.1_Missense_Mutation_p.R367L|FCHO1_ENST00000252771.7_Missense_Mutation_p.R367L|FCHO1_ENST00000596951.1_Missense_Mutation_p.R367L	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	367										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GCCCCGGCCCGGGCTCCAGCC	0.697													56	63					8.77104e-35	1.19588e-34	1	0	T	17886888	G	T	17886888	3	4	5	1	0	0	0	0	1	0	0	0	5832	1116	39	3	1150	3	FCHO1	19	17886888	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	549775	17886888	41242095	436	1555											
ZNF253	56242	broad.mit.edu	37	chr19	20002455	20002455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaggttataatggacttaaCcaatgtttgacaactaccca	14	11	8	8	0	0	1	0	1	0	0	0	3	0	3	2	3	3	2	2	3	6	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:20002455C>G	ENST00000589717.1	+	4	491	c.399C>G	c.(397-399)aaC>aaG	p.N133K	ZNF253_ENST00000355650.4_Missense_Mutation_p.N57K	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	133					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGGACTTAACCAATGTTTGA	0.323													28	66					0	0	0	0	G	20002455	C	G	20002455	3	3	5	1	0	0	0	0	1	0	0	0	17892	506	18	4	413	4	ZNF253	19	20002455	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2115567	20002455	39126528	437	1556											
ZNF493	284443	broad.mit.edu	37	chr19	21607279	21607279	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacaaatgtgaagaatgTggcaaagcttttaaccgatc	14	10	8	9	1	0	2	0	1	0	1	1	3	0	2	2	1	3	2	2	1	6	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:21607279T>C	ENST00000392288.2	+	4	1927	c.1818T>C	c.(1816-1818)tgT>tgC	p.C606C	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.C478C	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GTGAAGAATGTGGCAAAGCTT	0.333													25	39					0	0	0	0	C	21607279	T	C	21607279	2	2	5	1	0	0	0	0	0	0	0	1	18039	1702	59	5		5	ZNF493	19	21607279	Silent	SNP	T	TCGA-BA-4078-01A-01D-1434-08	1604824	21607279	37521704	438	1557											
DPY19L3	147991	broad.mit.edu	37	chr19	32973120	32973120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagaacaaaaccttccacGtttacaagctgtccagaaac	15	8	5	13	1	0	2	0	0	0	2	3	2	3	2	4	0	5	2	4	0	6	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:32973120G>T	ENST00000342179.5	+	19	2340	c.2125G>T	c.(2125-2127)Gtt>Ttt	p.V709F	DPY19L3_ENST00000586987.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.V709F	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	709						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					AACCTTCCACGTTTACAAGCT	0.458													102	157					1.33972e-64	2.0555e-64	1	0	T	32973120	G	T	32973120	3	4	5	1	0	0	0	0	1	0	0	0	4778	1145	40	3	2195	3	DPY19L3	19	32973120	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	11365841	32973120	26155863	439	1558											
RHPN2	85415	broad.mit.edu	37	chr19	33482784	33482784	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgggggcgttccctctcAaggtgaaccccaagtcccct	8	7	11	15	2	1	1	1	1	1	0	4	2	3	1	5	3	2	1	5	3	4	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:33482784A>T	ENST00000254260.3	-	13	1624	c.1589T>A	c.(1588-1590)tTg>tAg	p.L530*	RHPN2_ENST00000400226.4_Nonsense_Mutation_p.L379*	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	530	PDZ.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GTTCCCTCTCAAGGTGAACCC	0.537													46	90					0	0	0	0	T	33482784	A	T	33482784	4	4	5	1	0	0	0	0	0	1	0	0	13434	131	5	5	483	5	RHPN2	19	33482784	Nonsense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	509664	33482784	25646199	440	1559											
LRP3	4037	broad.mit.edu	37	chr19	33696633	33696633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctgggcgagcgcggggaCcgcctgctgcagacgctgtc	4	5	18	14	5	0	1	0	0	0	1	1	3	0	2	3	4	3	3	3	4	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:33696633C>T	ENST00000253193.7	+	5	1159	c.957C>T	c.(955-957)gaC>gaT	p.D319D		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	319	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AGCGCGGGGACCGCCTGCTGC	0.711													6	11					0	0	0	0	T	33696633	C	T	33696633	2	4	5	1	0	0	0	0	0	0	0	1	9022	506	18	4		4	LRP3	19	33696633	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	213849	33696633	25432350	441	1560											
CD22	933	broad.mit.edu	37	chr19	35828817	35828817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagcagaatacattcaCgctaaacctgcgcgaagtga	16	6	10	9	3	1	3	1	1	0	2	1	5	1	3	1	0	4	2	1	0	7	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:35828817C>T	ENST00000085219.5	+	5	944	c.878C>T	c.(877-879)aCg>aTg	p.T293M	CD22_ENST00000270311.6_Missense_Mutation_p.T173M|CD22_ENST00000544992.2_Missense_Mutation_p.T293M|CD22_ENST00000341773.6_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.T121M|CD22_ENST00000536635.2_Missense_Mutation_p.T293M|CD22_ENST00000594250.1_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	293	Ig-like C2-type 2.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AATACATTCACGCTAAACCTG	0.562													32	48					0	0	0	0	T	35828817	C	T	35828817	3	4	5	1	0	0	0	0	1	0	0	0	3014	536	19	1	892	1	CD22	19	35828817	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	2132184	35828817	23300166	442	1561											
NPHS1	4868	broad.mit.edu	37	chr19	36341873	36341873	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacactcactcaggagaatGgtgatgtcaggtgctggctt	9	10	12	10	0	3	2	3	1	0	1	3	3	3	2	1	4	1	2	1	4	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:36341873G>A	ENST00000378910.5	-	4	515	c.516C>T	c.(514-516)acC>acT	p.T172T	NPHS1_ENST00000353632.6_Silent_p.T172T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	172	Ig-like C2-type 2.		Missing (in NPHS1).		cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCAGGAGAATGGTGATGTCAG	0.602													21	28					0	0	0	0	A	36341873	G	A	36341873	2	1	5	1	0	0	0	0	0	0	0	1	10652	1335	47	4		4	NPHS1	19	36341873	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	513056	36341873	22787110	443	1562											
ZNF566	84924	broad.mit.edu	37	chr19	36964331	36964331	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactcctcctgagagaagtcTacggacacatcactgaacat	13	8	7	13	1	2	3	1	2	1	1	4	5	4	4	2	1	2	0	2	1	3	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:36964331T>C	ENST00000454319.1	-	3	173	c.39A>G	c.(37-39)gtA>gtG	p.V13V	ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000434377.2_Silent_p.V13V|ZNF566_ENST00000392170.2_Silent_p.V13V|ZNF566_ENST00000424129.2_Silent_p.V13V|ZNF566_ENST00000472909.2_Intron	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					GAGAGAAGTCTACGGACACAT	0.388													84	133					0	0	0	0	C	36964331	T	C	36964331	2	2	5	1	0	0	0	0	0	0	0	1	18092	1509	53	5		5	ZNF566	19	36964331	Silent	SNP	T	TCGA-BA-4078-01A-01D-1434-08	622458	36964331	22164652	444	1563											
RYR1	6261	broad.mit.edu	37	chr19	38934789	38934789	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cattccatccccacccatagGagaggcttgctggtggacca	9	8	10	14	0	0	1	0	0	0	1	2	3	2	2	5	4	1	2	5	4	1	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:38934789G>A	ENST00000355481.4	+	6	556	c.424_splice	c.e6-1	p.G142_splice	RYR1_ENST00000360985.3_Splice_Site_p.G142_splice|RYR1_ENST00000359596.3_Splice_Site_p.G142_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	142	MIR 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCACCCATAGGAGAGGCTTGC	0.612													20	34					0	0	0	0	A	38934789	G	A	38934789	5	1	5	1	0	0	0	0	0	0	1	0	13853	1188	41	2	447	2	RYR1	19	38934789	Splice_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1970458	38934789	20194194	445	1564											
CYP2B6	1555	broad.mit.edu	37	chr19	41515933	41515933	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagtgaattcagccaccAgaacctcaacctcaacacgc	15	5	5	16	1	3	2	3	1	0	1	3	2	3	2	4	0	4	0	4	0	4	1	rs146617126	byFrequency	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:41515933A>T	ENST00000324071.4	+	6	864	c.857A>T	c.(856-858)cAg>cTg	p.Q286L	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	286					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TTCAGCCACCAGAACCTCAAC	0.562													43	62					0	0	0	0	T	41515933	A	T	41515933	3	4	5	1	0	0	0	0	1	0	0	0	4196	188	7	5	879	5	CYP2B6	19	41515933	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	2581144	41515933	17613050	446	1565											
DMRTC2	63946	broad.mit.edu	37	chr19	42352590	42352590	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggcaccgacacccccCgggaaggtaaggagaggctg	9	4	15	13	2	0	1	0	0	0	1	0	4	0	2	4	5	1	4	4	5	2	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:42352590C>A	ENST00000269945.3	+	4	492	c.441C>A	c.(439-441)ccC>ccA	p.P147P	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Silent_p.P147P	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	147	Pro-rich.				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						CGACACCCCCCGGGAAGGTAA	0.607													6	22					8.12818e-05	8.42682e-05	1	0	A	42352590	C	A	42352590	2	1	5	1	0	0	0	0	0	0	0	1	4628	639	23	3		3	DMRTC2	19	42352590	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	836657	42352590	16776393	447	1566											
ZNF578	147660	broad.mit.edu	37	chr19	53013842	53013842	+	Missense_Mutation	SNP	A	A	T																															tagatatctcttccaaacgcAtgatgaaggaggtcttgtca																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:53013842A>T	ENST00000421239.2	+	6	452	c.208A>T	c.(208-210)Atg>Ttg	p.M70L		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TTCCAAACGCATGATGAAGGA	0.368													111	214					0	0	0	0	T	53013842	A	T	53013842	3	4	5	1	0	0	0	0	1	0	0	0	18105	217	8	5	218	5	ZNF578	19	53013842	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	10661252	53013842	6115141	448	1567	25	2									
ZNF578	147660	broad.mit.edu	37	chr19	53013843	53013843	+	Missense_Mutation	SNP	T	T	G																															agatatctcttccaaacgcaTgatgaaggaggtcttgtcaa																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:53013843T>G	ENST00000421239.2	+	6	453	c.209T>G	c.(208-210)aTg>aGg	p.M70R		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCCAAACGCATGATGAAGGAG	0.373													115	216					0	0	0	0	G	53013843	T	G	53013843	3	3	5	1	0	0	0	0	1	0	0	0	18105	1464	51	5	219	5	ZNF578	19	53013843	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	1	53013843	6115140	449	1568	25	2									
ZNF320	162967	broad.mit.edu	37	chr19	53384177	53384177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaagtttttgatgacatGcgaggtacgcttttgtacta	10	16	10	5	2	0	3	0	3	0	0	0	4	0	3	0	1	3	4	0	1	5	8			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:53384177G>A	ENST00000595635.1	-	8	1703	c.1202C>T	c.(1201-1203)gCa>gTa	p.A401V	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.A401V|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TTGATGACATGCGAGGTACGC	0.388													61	114					0	0	0	0	A	53384177	G	A	53384177	3	1	5	1	0	0	0	0	1	0	0	0	17934	1319	46	4	331	4	ZNF320	19	53384177	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	370334	53384177	5744806	450	1569											
ZNF761	388561	broad.mit.edu	37	chr19	53959133	53959133	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcccttacatgccatcgtAgacgtcatactggagagcaa	12	9	8	12	2	1	2	1	0	0	2	3	3	2	2	2	1	4	2	2	1	4	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:53959133A>G	ENST00000454407.1	+	0	1825							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATGCCATCGTAGACGTCATAC	0.388													76	104					0	0	0	0	G	53959133	A	G	53959133	1	3	5	0	1	0	0	0	0	0	0	0	18230	412	15	5		5	ZNF761	19	53959133	RNA	SNP	A	TCGA-BA-4078-01A-01D-1434-08	574956	53959133	5169850	451	1570											
NLRP12	91662	broad.mit.edu	37	chr19	54314439	54314439	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccttcaccagcaggagccgGgtgtaccggtggctgaggtt	6	9	15	11	2	1	1	1	1	0	0	2	2	2	2	4	5	3	4	4	5	1	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:54314439G>T	ENST00000324134.6	-	3	642	c.474C>A	c.(472-474)acC>acA	p.T158T	NLRP12_ENST00000391775.3_Silent_p.T158T|NLRP12_ENST00000354278.3_Silent_p.T158T|NLRP12_ENST00000351894.4_Silent_p.T158T|NLRP12_ENST00000345770.5_Silent_p.T158T|NLRP12_ENST00000391773.1_Silent_p.T158T|NLRP12_ENST00000535162.1_Silent_p.T158T|NLRP12_ENST00000391772.1_Silent_p.T158T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	158					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCAGGAGCCGGGTGTACCGGT	0.617													93	128					8.64784e-51	1.29319e-50	1	0	T	54314439	G	T	54314439	2	4	5	1	0	0	0	0	0	0	0	1	10544	1219	43	4		4	NLRP12	19	54314439	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	355306	54314439	4814544	452	1571											
NLRP2	55655	broad.mit.edu	37	chr19	55494535	55494535	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggacggagacatcctccGccaggacagagtctccaaag	11	5	11	14	2	1	2	0	0	1	2	4	5	3	4	5	3	0	0	5	3	1	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:55494535G>C	ENST00000543010.1	+	6	1612	c.1469G>C	c.(1468-1470)cGc>cCc	p.R490P	NLRP2_ENST00000537859.1_Missense_Mutation_p.R468P|NLRP2_ENST00000391721.4_Missense_Mutation_p.R466P|NLRP2_ENST00000448584.2_Missense_Mutation_p.R490P|NLRP2_ENST00000427260.2_Missense_Mutation_p.R467P|NLRP2_ENST00000339757.7_Missense_Mutation_p.R468P|NLRP2_ENST00000538819.1_Missense_Mutation_p.R466P|NLRP2_ENST00000263437.6_Missense_Mutation_p.R487P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	490	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACATCCTCCGCCAGGACAGA	0.602													49	77					0	0	0	0	C	55494535	G	C	55494535	3	2	5	1	0	0	0	0	1	0	0	0	10547	1087	38	3	1487	3	NLRP2	19	55494535	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1180096	55494535	3634448	453	1572											
NLRP5	126206	broad.mit.edu	37	chr19	56539566	56539566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggtcctgctgggctgtcCcgttcccctgggggtgaagc	3	9	17	12	1	0	1	0	1	0	0	3	2	3	2	4	5	2	3	4	5	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:56539566C>A	ENST00000390649.3	+	7	1967	c.1967C>A	c.(1966-1968)cCc>cAc	p.P656H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	656						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGGGCTGTCCCGTTCCCCTG	0.597													77	113					5.21738e-30	6.85441e-30	1	0	A	56539566	C	A	56539566	3	1	5	1	0	0	0	0	1	0	0	0	10550	623	22	4	1993	4	NLRP5	19	56539566	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	1045031	56539566	2589417	454	1573											
ZNF582	147948	broad.mit.edu	37	chr19	56895725	56895725	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattctctgatgtcgtataAgagttgagccttgattaaaa	13	14	9	5	1	1	4	0	3	1	1	3	5	1	4	1	0	1	2	1	0	5	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:56895725A>G	ENST00000301310.4	-	5	1219	c.1061T>C	c.(1060-1062)cTt>cCt	p.L354P	ZNF582_ENST00000586929.1_Missense_Mutation_p.L354P	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ATGTCGTATAAGAGTTGAGCC	0.418													105	135					0	0	0	0	G	56895725	A	G	56895725	3	3	5	1	0	0	0	0	1	0	0	0	18109	72	3	5	496	5	ZNF582	19	56895725	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	356159	56895725	2233258	455	1574											
ZNF835	90485	broad.mit.edu	37	chr19	57175606	57175606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgccggtgctcggccaGagaggcgctctggctgaaga	7	6	17	11	4	1	3	0	1	1	2	2	5	1	3	2	4	2	3	2	4	1	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:57175606G>T	ENST00000537055.2	-	2	1192	c.961C>A	c.(961-963)Ctg>Atg	p.L321M		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.G334fs*26(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCTCGGCCAGAGAGGCGCTC	0.706													9	9					0.0581538	0.0589716	1	0	T	57175606	G	T	57175606	3	4	5	1	0	0	0	0	1	0	0	0	18279	933	33	2	654	2	ZNF835	19	57175606	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	279881	57175606	1953377	456	1575											
ZNF835	90485	broad.mit.edu	37	chr19	57176253	57176253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttccacggcttcttggggCctccacctctctcccgctgg	3	12	9	17	2	2	0	0	0	2	0	6	0	5	0	5	4	0	2	5	4	0	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:57176253C>A	ENST00000537055.2	-	2	545	c.314G>T	c.(313-315)gGc>gTc	p.G105V		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTTCTTGGGGCCTCCACCTCT	0.632													26	43					7.01153e-11	7.7521e-11	1	0	A	57176253	C	A	57176253	3	1	5	1	0	0	0	0	1	0	0	0	18279	739	26	4	1301	4	ZNF835	19	57176253	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	647	57176253	1952730	457	1576											
ZNF548	147694	broad.mit.edu	37	chr19	57910559	57910559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttgttagacatcagagaGttcacaccggagaaaggccg	13	8	11	9	2	2	3	2	0	0	3	2	5	2	3	2	2	0	2	2	2	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:57910559G>T	ENST00000366197.5	+	3	1154	c.904G>T	c.(904-906)Gtt>Ttt	p.V302F	AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.V314F|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		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;0.026)		ACATCAGAGAGTTCACACCGG	0.458													38	65					4.62619e-21	5.55999e-21	1	0	T	57910559	G	T	57910559	3	4	5	1	0	0	0	0	1	0	0	0	18075	1029	36	4	954	4	ZNF548	19	57910559	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	734306	57910559	1218424	458	1577											
ZSCAN1	284312	broad.mit.edu	37	chr19	58549383	58549383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcgctgggccagctctGgacgctgtgccgccagtggc	3	7	15	16	4	1	0	0	0	1	0	2	1	1	1	4	3	2	3	4	3	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:58549383G>C	ENST00000282326.1	+	3	426	c.179G>C	c.(178-180)tGg>tCg	p.W60S	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.W60S|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.W60S	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	60	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W60*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCCAGCTCTGGACGCTGTGC	0.711													8	7					0	0	0	0	C	58549383	G	C	58549383	3	2	5	1	0	0	0	0	1	0	0	0	18319	1357	47	4	181	4	ZSCAN1	19	58549383	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	638824	58549383	579600	459	1578											
ZNF497	162968	broad.mit.edu	37	chr19	58868799	58868799	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagctccctgccggggcctCcctgttcgtccgccgccccc	1	7	10	23	4	0	0	0	0	0	0	4	0	3	0	9	2	2	2	9	2	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:58868799C>A	ENST00000311044.3	-	3	391	c.203G>T	c.(202-204)gGa>gTa	p.G68V	ZNF497_ENST00000425453.3_Missense_Mutation_p.G68V|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|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;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCCGGGGCCTCCCTGTTCGTC	0.746													6	11					0.000442599	0.000456672	1	0	A	58868799	C	A	58868799	3	1	5	1	0	0	0	0	1	0	0	0	18041	855	30	2	1297	2	ZNF497	19	58868799	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	319416	58868799	260184	460	1579											
ANGPT4	51378	broad.mit.edu	37	chr20	870932	870932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgcccagctctagcatgGgggccgtctgattctgggcc	4	10	15	12	1	3	1	0	1	3	0	3	1	3	1	3	4	3	2	3	4	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:870932G>C	ENST00000381922.3	-	2	491	c.389C>G	c.(388-390)cCc>cGc	p.P130R	ANGPT4_ENST00000546022.1_Missense_Mutation_p.P130R	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	130					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTCTAGCATGGGGGCCGTCTG	0.607													67	125					0	0	0	0	C	870932	G	C	870932	3	2	5	1	0	0	0	0	1	0	0	0	612	1232	43	4	1154	4	ANGPT4	20	870932	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08		870932	62154588	461	1580											
KIF16B	55614	broad.mit.edu	37	chr20	16486697	16486697	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgacgttccccagagtcaCgagggacttgttaatatttc	11	12	9	9	2	1	2	1	1	0	1	3	4	2	3	2	1	0	2	2	1	3	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:16486697C>A	ENST00000354981.2	-	8	995	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	KIF16B_ENST00000408042.1_Missense_Mutation_p.V280L|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.V280L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	280	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCCAGAGTCACGAGGGACTTG	0.512													80	377					9.59377e-39	1.35356e-38	1	0	A	16486697	C	A	16486697	3	1	5	1	0	0	0	0	1	0	0	0	8329	536	19	3	3191	3	KIF16B	20	16486697	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	15615765	16486697	46538823	462	1581											
C20orf26	26074	broad.mit.edu	37	chr20	20177362	20177362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttctgaaggagatcctgcGtttaggctttaaatcctgtc	8	15	9	9	1	1	2	0	1	1	1	4	3	3	2	2	2	1	2	2	2	4	5	rs115927004	by1000genomes	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:20177362G>T	ENST00000245957.5	+	16	1815	c.1739G>T	c.(1738-1740)cGt>cTt	p.R580L	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	580										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GAGATCCTGCGTTTAGGCTTT	0.483													120	187					5.01229e-73	7.70848e-73	1	0	T	20177362	G	T	20177362	3	4	5	1	0	0	0	0	1	0	0	0	2126	1145	40	3	1829	3	C20orf26	20	20177362	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	3690665	20177362	42848158	463	1582											
NKX2-4	644524	broad.mit.edu	37	chr20	21376612	21376612	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgtactccccggcggcCgcgtccagggccgccaggcc	3	4	14	20	6	0	0	0	0	0	0	2	0	2	0	8	4	1	2	8	4	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:21376612C>T	ENST00000351817.4	-	2	1630	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	334					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						ccccggcggccgcgtccaggg	0.781													17	11					0	0	0	0	T	21376612	C	T	21376612	2	4	5	1	0	0	0	0	0	0	0	1	10522	639	23	1		1	NKX2-4	20	21376612	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	1199250	21376612	41648908	464	1583											
PAX1	5075	broad.mit.edu	37	chr20	21687579	21687579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagtcccgtgtcgcccacgGgcgccaagatgggcagccac	7	4	13	17	4	0	1	0	0	0	1	2	1	1	1	5	2	1	1	5	2	1	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:21687579G>T	ENST00000398485.2	+	2	844	c.790G>T	c.(790-792)Ggc>Tgc	p.G264C	PAX1_ENST00000444366.2_Missense_Mutation_p.G240C|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	264					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GTCGCCCACGGGCGCCAAGAT	0.697													47	43					1.65492e-34	2.24695e-34	1	0	T	21687579	G	T	21687579	3	4	5	1	0	0	0	0	1	0	0	0	11549	1232	43	4	796	4	PAX1	20	21687579	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	310967	21687579	41337941	465	1584											
SSTR4	6754	broad.mit.edu	37	chr20	23016732	23016732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaacctgcagtggccacaCccggcctggtcggcagtctt	6	8	12	15	2	1	0	0	0	1	0	2	0	1	0	4	4	3	3	4	4	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:23016732C>A	ENST00000255008.3	+	1	676	c.612C>A	c.(610-612)caC>caA	p.H204Q	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	204					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGTGGCCACACCCGGCCTGGT	0.657													37	107					1.00953e-15	1.15553e-15	1	0	A	23016732	C	A	23016732	3	1	5	1	0	0	0	0	1	0	0	0	15290	506	18	4	614	4	SSTR4	20	23016732	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	1329153	23016732	40008788	466	1585											
GGTLC1	92086	broad.mit.edu	37	chr20	23966370	23966370	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcagccggggctcctcCacggcccacttcacgtcata	6	9	10	16	3	2	0	2	0	0	0	4	0	4	0	4	3	2	2	4	3	1	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:23966370C>T	ENST00000335694.4	-	5	669	c.465G>A	c.(463-465)gtG>gtA	p.V155V	GGTLC1_ENST00000278765.4_Silent_p.V155V|GGTLC1_ENST00000286890.4_Silent_p.V155V	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	155							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GGGGCTCCTCCACGGCCCACT	0.607													161	125					0	0	0	0	T	23966370	C	T	23966370	2	4	5	1	0	0	0	0	0	0	0	1	6416	581	21	4		4	GGTLC1	20	23966370	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	949638	23966370	39059150	467	1586											
CEP250	11190	broad.mit.edu	37	chr20	34092279	34092279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacaagaaggtgagatccagGaccaggatctccgataccag	14	6	11	10	1	1	2	0	1	1	2	3	6	2	4	4	3	2	0	4	3	4	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:34092279G>A	ENST00000397527.1	+	30	6802	c.6082G>A	c.(6082-6084)Gac>Aac	p.D2028N	CEP250_ENST00000342580.4_Missense_Mutation_p.D1972N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2028	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGAGATCCAGGACCAGGATCT	0.607													6	26					0	0	0	0	A	34092279	G	A	34092279	3	1	5	1	0	0	0	0	1	0	0	0	3281	1174	41	2	6188	2	CEP250	20	34092279	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	10125909	34092279	28933241	468	1587											
DLGAP4	22839	broad.mit.edu	37	chr20	35060934	35060934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccaccacccccgcccGcacccccagccacctgcccc	5	2	5	29	2	0	0	0	0	0	0	0	0	0	0	12	0	3	1	12	0	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:35060934G>A	ENST00000373913.3	+	3	1294	c.814G>A	c.(814-816)Gca>Aca	p.A272T	DLGAP4_ENST00000373907.2_Missense_Mutation_p.A272T|DLGAP4_ENST00000339266.5_Missense_Mutation_p.A272T|DLGAP4_ENST00000401952.2_Missense_Mutation_p.A272T			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	272	Poly-Pro.				cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACCCCCGCCCGCACCCCCAGC	0.627													10	19					0	0	0	0	A	35060934	G	A	35060934	3	1	5	1	0	0	0	0	1	0	0	0	4599	1087	38	1	816	1	DLGAP4	20	35060934	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	968655	35060934	27964586	469	1588											
TGM2	7052	broad.mit.edu	37	chr20	36775222	36775222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgctgccgatccaggaCatggggctgacgccgtcccc	6	6	12	17	4	0	1	0	1	0	0	3	3	3	2	6	3	1	2	6	3	0	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:36775222C>A	ENST00000361475.2	-	6	929	c.756G>T	c.(754-756)atG>atT	p.M252I	TGM2_ENST00000536724.1_Missense_Mutation_p.M192I|TGM2_ENST00000536701.1_Missense_Mutation_p.M171I	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	252					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CGATCCAGGACATGGGGCTGA	0.657													75	62					1.3515e-34	1.83883e-34	1	0	A	36775222	C	A	36775222	3	1	5	1	0	0	0	0	1	0	0	0	15924	478	17	4	1371	4	TGM2	20	36775222	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	1714288	36775222	26250298	470	1589											
ACTR5	79913	broad.mit.edu	37	chr20	37395021	37395021	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcagtacattctggacagGtgagacagcgaatctgcttt	10	12	10	9	1	3	1	1	1	2	1	3	4	3	2	0	2	3	2	0	2	2	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:37395021G>A	ENST00000243903.4	+	7	1470		c.e7+1			NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)						DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TTCTGGACAGGTGAGACAGCG	0.433													362	140					0	0	0	0	A	37395021	G	A	37395021	5	1	5	1	0	0	0	0	0	0	1	0	215	1275	44	4	1460	4	ACTR5	20	37395021	Splice_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	619799	37395021	25630499	471	1590											
YTHDF1	54915	broad.mit.edu	37	chr20	61833966	61833966	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accccacaaaaatgcccactCccattgacgctgaagagcag	14	5	7	15	1	0	3	0	2	0	1	1	3	1	3	4	0	2	2	4	0	3	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:61833966C>A	ENST00000370339.3	-	4	1667	c.1326G>T	c.(1324-1326)ggG>ggT	p.G442G	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.G392G	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	442	YTH.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AATGCCCACTCCCATTGACGC	0.607													80	36					5.36554e-22	6.50885e-22	1	0	A	61833966	C	A	61833966	2	1	5	1	0	0	0	0	0	0	0	1	17594	842	30	2		2	YTHDF1	20	61833966	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	24438945	61833966	1191554	472	1591											
BAGE2	85319	broad.mit.edu	37	chr21	11058319	11058319	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgcttacaaaatgcaCatcgctgaaaggggtaaagg	16	7	11	7	1	0	1	0	1	0	0	1	1	0	1	0	3	3	4	0	3	7	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr21:11058319C>T	ENST00000470054.1	-	0	328									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACAAAATGCACATCGCTGAAA	0.388													25	253					0	0	0	0	T	11058319	C	T	11058319	1	4	5	0	1	0	0	0	0	0	0	0	1296	478	17	4		4	BAGE2	21	11058319	RNA	SNP	C	TCGA-BA-4078-01A-01D-1434-08		11058319	37071576	473	1592											
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032693	46032693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcctgctgtgtgcctgtcCcctcctgttgtgtccctgcc	0	14	10	17	0	0	0	0	0	0	0	3	0	3	0	7	0	4	2	7	0	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr21:46032693C>T	ENST00000334662.2	+	1	698	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	226	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.P226S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						tgtgcctgtcccctcctgttg	0.716													62	73					0	0	0	0	T	46032693	C	T	46032693	3	4	5	1	0	0	0	0	1	0	0	0	8567	623	22	4	678	4	KRTAP10-8	21	46032693	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	34974374	46032693	2097202	474	1593											
USP18	11274	broad.mit.edu	37	chr22	18643000	18643000	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccttgattcaggtgttCgtaatgaatgtggacttcac	10	14	9	8	1	2	2	2	2	0	0	4	3	3	3	1	2	1	2	1	2	3	5	rs138144879	byFrequency	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr22:18643000C>A	ENST00000215794.7	+	3	649	c.219C>A	c.(217-219)ttC>ttA	p.F73L		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	73					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TTCAGGTGTTCGTAATGAATG	0.418													260	31					2.59669e-106	4.02208e-106	1	0	A	18643000	C	A	18643000	3	1	5	1	0	0	0	0	1	0	0	0	17145	883	31	3	225	3	USP18	22	18643000	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08		18643000	32661566	475	1594											
MN1	4330	broad.mit.edu	37	chr22	28194072	28194072	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagccaggcagctctggccGaacaggttgtccttggagct	7	8	14	12	1	1	0	0	0	1	0	2	2	2	1	3	4	4	5	3	4	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr22:28194072G>A	ENST00000302326.4	-	1	3414	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	820							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGCTCTGGCCGAACAGGTTGT	0.632			T	ETV6	"AML, meningioma"								4	178					0	0	0	0	A	28194072	G	A	28194072	2	1	5	1	0	0	0	0	0	0	0	1	9743	1049	37	1		1	MN1	22	28194072	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	9551072	28194072	23110494	476	1595											
APOL3	80833	broad.mit.edu	37	chr22	36541544	36541544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaattcagccgcagtcacGaatctcttccaggcttcatt	9	11	8	13	2	4	0	3	0	1	0	6	1	5	0	2	2	1	3	2	2	2	4	rs61731691		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr22:36541544G>A	ENST00000397293.2	-	3	461	c.114C>T	c.(112-114)ttC>ttT	p.F38F	APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000349314.2_Silent_p.F109F			O95236	APOL3_HUMAN	apolipoprotein L, 3	109					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CCGCAGTCACGAATCTCTTCC	0.552													50	105					0	0	0	0	A	36541544	G	A	36541544	2	1	5	1	0	0	0	0	0	0	0	1	809	1049	37	1		1	APOL3	22	36541544	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	8347472	36541544	14763022	477	1596											
C1QTNF6	114904	broad.mit.edu	37	chr22	37584249	37584249	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacggaccctgagccacTgcatggcctctggctccttg	6	9	10	16	1	2	1	1	1	1	0	3	2	3	2	4	3	2	2	4	3	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr22:37584249T>C	ENST00000337843.2	-	1	80	c.5A>G	c.(4-6)cAg>cGg	p.Q2R	C1QTNF6_ENST00000397110.2_Missense_Mutation_p.Q2R|C1QTNF6_ENST00000470655.1_5'UTR	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	0			G -> V (in dbSNP:rs229527).			collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						CCTGAGCCACTGCATGGCCTC	0.637													123	20					0	0	0	0	C	37584249	T	C	37584249	3	2	5	1	0	0	0	0	1	0	0	0	1986	1580	55	5	843	5	C1QTNF6	22	37584249	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	1042705	37584249	13720317	478	1597											
CSF2RA	1438	broad.mit.edu	37	chrX	1407468	1407468	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgtctgcatgaaggagtCacatttgaggttcacgtgaa	11	13	11	6	1	3	3	2	3	1	0	3	4	3	4	0	2	1	2	0	2	2	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:1407468C>T	ENST00000381524.3	+	5	462	c.276C>T	c.(274-276)gtC>gtT	p.V92V	CSF2RA_ENST00000417535.2_Silent_p.V92V|CSF2RA_ENST00000355432.3_Silent_p.V92V|CSF2RA_ENST00000381500.1_Silent_p.V92V|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355805.2_Silent_p.V92V|CSF2RA_ENST00000381529.3_Silent_p.V92V|CSF2RA_ENST00000432318.2_Silent_p.V92V|CSF2RA_ENST00000361536.3_Silent_p.V92V|CSF2RA_ENST00000381509.3_Silent_p.V92V			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	92						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATGAAGGAGTCACATTTGAGG	0.423													163	292					0	0	0	0	T	1407468	C	T	1407468	2	4	5	1	0	0	0	0	0	0	0	1	3966	813	29	2		2	CSF2RA	23	1407468	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08		1407468	153863092	479	1598											
IL3RA	3563	broad.mit.edu	37	chrX	1464240	1464240	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaatcacgaacctaaggatGaaagcaaaggctcagcagtt	16	6	9	10	1	2	1	2	1	0	0	2	3	2	2	2	2	3	4	2	2	5	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:1464240G>C	ENST00000331035.4	+	3	445	c.96G>C	c.(94-96)atG>atC	p.M32I	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	32						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACCTAAGGATGAAAGCAAAGG	0.443													5	353					0	0	0	0	C	1464240	G	C	1464240	3	2	5	1	0	0	0	0	1	0	0	0	7748	1290	45	2	102	2	IL3RA	23	1464240	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	56772	1464240	153806320	480	1599											
NLGN4X	57502	broad.mit.edu	37	chrX	6069249	6069249	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttctgggggctgaaaccGcctctctccagtggggggtg	4	9	18	10	1	2	1	0	1	2	0	4	1	3	1	3	6	1	2	3	6	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:6069249G>T	ENST00000381095.3	-	2	886	c.259C>A	c.(259-261)Cgg>Agg	p.R87R	NLGN4X_ENST00000381093.2_Silent_p.R87R|NLGN4X_ENST00000275857.6_Silent_p.R87R|NLGN4X_ENST00000381092.1_Silent_p.R87R|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000538097.1_Silent_p.R87R	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	87					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGCTGAAACCGCCTCTCTCCA	0.572													75	12					6.20995e-33	8.32698e-33	1	0	T	6069249	G	T	6069249	2	4	5	1	0	0	0	0	0	0	0	1	10534	1086	38	3		3	NLGN4X	23	6069249	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	4605009	6069249	149201311	481	1600											
RPS6KA3	6197	broad.mit.edu	37	chrX	20195158	20195159	+	Frame_Shift_Del	DEL	CT	CT	-																															tgaaaagcattcgtaaaagaCtctgcgcttcaggactcaaa																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:20195158_20195159delCT	ENST00000379565.3	-	11	1096_1097	c.889_890delAG	c.(889-891)tfs	p.S297fs	RPS6KA3_ENST00000379548.4_Frame_Shift_Del_p.S268fs|RPS6KA3_ENST00000544447.1_Frame_Shift_Del_p.S269fs|RPS6KA3_ENST00000540702.1_Frame_Shift_Del_p.S269fs	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	297	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TCGTAAAAGACTCTGCGCTTCA	0.307													94	22	---	---	---	---					-	20195159	CT	-	20195158	7	5	5	1	0	1	0	1	0	0	0	0	13737	565	20	0	1380	0	RPS6KA3	23	20195158	Frame_Shift_Del	DEL	CT	TCGA-BA-4078-01A-01D-1434-08	14125909	20195158	135075402	482	1601											
MAGEB4	4115	broad.mit.edu	37	chrX	30260672	30260672	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaatgctgaagatcatcagCaaaaagtacaaggagcactt	18	7	9	7	0	2	2	2	1	0	1	2	4	2	3	0	1	4	4	0	1	6	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:30260672C>T	ENST00000378982.2	+	1	616	c.420C>T	c.(418-420)agC>agT	p.S140S		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	140	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AGATCATCAGCAAAAAGTACA	0.473													25	3					0	0	0	0	T	30260672	C	T	30260672	2	4	5	1	0	0	0	0	0	0	0	1	9247	709	25	4		4	MAGEB4	23	30260672	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	10065514	30260672	125009888	483	1602											
DMD	1756	broad.mit.edu	37	chrX	31893375	31893375	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcctaataggagataacCacagcagcagatgatttaac	16	9	8	8	0	0	3	0	1	0	2	1	5	1	3	2	1	4	2	2	1	4	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:31893375C>G	ENST00000357033.4	-	48	7234	c.7028G>C	c.(7027-7029)tGg>tCg	p.W2343S	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.W2339S|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2343			Missing (in DMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGAGATAACCACAGCAGCAG	0.368													22	7					0	0	0	0	G	31893375	C	G	31893375	3	3	5	1	0	0	0	0	1	0	0	0	4617	595	21	4	4305	4	DMD	23	31893375	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	1632703	31893375	123377185	484	1603											
FAM47C	442444	broad.mit.edu	37	chrX	37027498	37027498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagcctcccaagactctgGtgtccagtctccacccagag	9	7	9	16	0	2	3	0	0	2	3	5	3	4	3	5	1	1	0	5	1	1	0			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:37027498G>T	ENST00000358047.3	+	1	1067	c.1015G>T	c.(1015-1017)Gtg>Ttg	p.V339L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	339										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAAGACTCTGGTGTCCAGTCT	0.622													88	22					1.07111e-62	1.6395e-62	1	0	T	37027498	G	T	37027498	3	4	5	1	0	0	0	0	1	0	0	0	5618	1261	44	4	1017	4	FAM47C	23	37027498	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	5134123	37027498	118243062	485	1604											
WDR45	11152	broad.mit.edu	37	chrX	48933527	48933527	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccactggacggctcaccaCaagttgcagactcccacact	10	7	8	16	1	1	1	1	0	0	1	3	2	3	2	3	2	1	3	3	2	1	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:48933527C>G	ENST00000356463.3	-	8	955	c.517G>C	c.(517-519)Gtg>Ctg	p.V173L	WDR45_ENST00000322995.8_Missense_Mutation_p.V183L|WDR45_ENST00000553851.1_Missense_Mutation_p.V70L|WDR45_ENST00000485908.1_Missense_Mutation_p.V137L|WDR45_ENST00000376368.2_Missense_Mutation_p.V173L|WDR45_ENST00000473974.1_Missense_Mutation_p.V172L|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000396681.4_Missense_Mutation_p.V172L|WDR45_ENST00000376358.3_Missense_Mutation_p.V70L|WDR45_ENST00000376372.3_Missense_Mutation_p.V172L	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	172					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CGGCTCACCACAAGTTGCAGA	0.597													31	3					0	0	0	0	G	48933527	C	G	48933527	3	3	5	1	0	0	0	0	1	0	0	0	17393	478	17	4	588	4	WDR45	23	48933527	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	11906029	48933527	106337033	486	1605											
PAGE4	9506	broad.mit.edu	37	chrX	49597193	49597193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggagtgagcgtggagatGgctctgatgtaaaagagaag	12	8	16	5	2	1	4	0	2	1	2	2	7	1	5	0	3	1	2	0	3	3	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:49597193G>T	ENST00000218068.6	+	4	311	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C	PAGE4_ENST00000376141.1_Missense_Mutation_p.G78C	NM_007003.2	NP_008934.1	O60829	GAGC1_HUMAN	P antigen family, member 4 (prostate associated)	78												Ovarian(276;0.236)					GCGTGGAGATGGCTCTGATGT	0.388													57	12					4.13886e-29	5.40467e-29	1	0	T	49597193	G	T	49597193	3	4	5	1	0	0	0	0	1	0	0	0	11463	1348	47	4	242	4	PAGE4	23	49597193	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	663666	49597193	105673367	487	1606											
WNK3	65267	broad.mit.edu	37	chrX	54359590	54359590	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcagctcacaccaagcaaCctcaacccatgtttcagtgt	11	9	6	15	0	3	0	3	0	0	0	3	0	3	0	3	0	5	4	3	0	3	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:54359590C>A	ENST00000354646.2	-	2	955	c.517G>T	c.(517-519)Gtt>Ttt	p.V173F	WNK3_ENST00000375159.2_Missense_Mutation_p.V173F|WNK3_ENST00000375169.3_Missense_Mutation_p.V173F	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	173	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CACCAAGCAACCTCAACCCAT	0.393													83	22					3.16549e-35	4.34335e-35	1	0	A	54359590	C	A	54359590	3	1	5	1	0	0	0	0	1	0	0	0	17475	507	18	4	4977	4	WNK3	23	54359590	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	4762397	54359590	100910970	488	1607											
MSN	4478	broad.mit.edu	37	chrX	64959590	64959590	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcccatacatcctcacaGgccctcacttcggagctggc	7	10	8	16	1	2	0	2	0	0	0	5	1	4	1	3	3	2	2	3	3	1	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:64959590G>T	ENST00000360270.5	+	13	1741		c.e13-1		MSN_ENST00000486030.1_Splice_Site	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin						leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CATCCTCACAGGCCCTCACTT	0.483			T	ALK	ALCL								54	15					2.64514e-33	3.55423e-33	1	0	T	64959590	G	T	64959590	5	4	5	1	0	0	0	0	0	0	1	0	9955	1014	35	4	1619	4	MSN	23	64959590	Splice_Site	SNP	G	TCGA-BA-4078-01A-01D-1434-08	10600000	64959590	90310970	489	1608											
EDA2R	60401	broad.mit.edu	37	chrX	65824895	65824895	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagcaagctcacctgggCaaacagtccccacagacagc	15	4	8	14	0	1	1	1	0	0	1	2	1	2	1	3	1	4	3	3	1	4	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:65824895C>T	ENST00000374719.3	-	3	317	c.261G>A	c.(259-261)ttG>ttA	p.L87L	EDA2R_ENST00000396050.1_Silent_p.L87L|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000253392.5_Silent_p.L87L|EDA2R_ENST00000450752.1_Silent_p.L87L|EDA2R_ENST00000456230.2_Silent_p.L87L	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	87					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CTCACCTGGGCAAACAGTCCC	0.488													10	2					0	0	0	0	T	65824895	C	T	65824895	2	4	5	1	0	0	0	0	0	0	0	1	4940	709	25	4		4	EDA2R	23	65824895	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	865305	65824895	89445665	490	1609											
KIAA2022	340533	broad.mit.edu	37	chrX	73961161	73961161	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaatttgaggggaaagactAggggtgtccggtggggacat	10	9	18	4	1	0	2	0	1	0	1	1	4	1	4	1	7	0	1	1	7	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:73961161A>G	ENST00000373468.1	-	3	3882	c.3231T>C	c.(3229-3231)ccT>ccC	p.P1077P	KIAA2022_ENST00000055682.5_Silent_p.P1077P			Q5QGS0	K2022_HUMAN	KIAA2022	1077					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGGAAAGACTAGGGGTGTCCG	0.502													102	34					0	0	0	0	G	73961161	A	G	73961161	2	3	5	1	0	0	0	0	0	0	0	1	8320	407	15	5		5	KIAA2022	23	73961161	Silent	SNP	A	TCGA-BA-4078-01A-01D-1434-08	8136266	73961161	81309399	491	1610											
RPS6KA6	27330	broad.mit.edu	37	chrX	83371245	83371245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttaacttacatcccagtCaatatttgcaaaaaacagat	17	12	3	9	0	1	1	1	0	0	1	2	1	2	1	1	0	5	1	1	0	8	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:83371245C>T	ENST00000262752.2	-	12	1007	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.D334N	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	334	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ACATCCCAGTCAATATTTGCA	0.249													28	2					0	0	0	0	T	83371245	C	T	83371245	3	4	5	1	0	0	0	0	1	0	0	0	13740	826	29	2	1281	2	RPS6KA6	23	83371245	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	9410084	83371245	71899315	492	1611											
HDX	139324	broad.mit.edu	37	chrX	83616510	83616510	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatttaattcagttgcCacagcttcaattttctctct	10	17	3	11	0	5	0	3	0	2	0	6	0	5	0	1	0	3	2	1	0	3	7			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:83616510C>G	ENST00000297977.5	-	5	1527	c.1416G>C	c.(1414-1416)gtG>gtC	p.V472V	HDX_ENST00000373177.2_Silent_p.V472V|HDX_ENST00000506585.2_Silent_p.V414V	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	472						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATTCAGTTGCCACAGCTTCAA	0.393													27	8					0	0	0	0	G	83616510	C	G	83616510	2	3	5	1	0	0	0	0	0	0	0	1	7076	581	21	4		4	HDX	23	83616510	Silent	SNP	C	TCGA-BA-4078-01A-01D-1434-08	245265	83616510	71654050	493	1612											
POF1B	79983	broad.mit.edu	37	chrX	84634342	84634342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttttctggaggctgctGggcttggcttgactgatggt	4	17	14	6	0	1	2	0	2	1	0	1	3	1	3	0	5	1	4	0	5	0	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:84634342G>T	ENST00000262753.4	-	2	263	c.118C>A	c.(118-120)Cag>Aag	p.Q40K	POF1B_ENST00000373145.3_Missense_Mutation_p.Q40K	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	40							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGAGGCTGCTGGGCTTGGCTT	0.577													34	4					3.21399e-22	3.93563e-22	1	0	T	84634342	G	T	84634342	3	4	5	1	0	0	0	0	1	0	0	0	12254	1357	47	4	1715	4	POF1B	23	84634342	Missense_Mutation	SNP	G	TCGA-BA-4078-01A-01D-1434-08	1017832	84634342	70636218	494	1613											
DACH2	117154	broad.mit.edu	37	chrX	85994839	85994839	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcccacaccagcagcagTgtgtccagctctccctctca	7	10	6	18	0	3	0	1	0	3	0	7	0	5	0	4	0	3	3	4	0	0	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:85994839T>A	ENST00000373131.1	+	6	1318	c.1155T>A	c.(1153-1155)agT>agA	p.S385R	DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.S231R|DACH2_ENST00000373125.4_Missense_Mutation_p.S398R|DACH2_ENST00000510272.1_Missense_Mutation_p.S179R	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCAGCAGCAGTGTGTCCAGCT	0.468													21	3					0	0	0	0	A	85994839	T	A	85994839	3	1	5	1	0	0	0	0	1	0	0	0	4254	1693	59	5	1220	5	DACH2	23	85994839	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	1360497	85994839	69275721	495	1614											
NOX1	27035	broad.mit.edu	37	chrX	100117442	100117442	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtggtgagtataccagaAgacttcaaaataactcctcc	15	9	8	9	0	1	3	1	1	0	2	3	3	3	3	3	2	2	1	3	2	7	4			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:100117442A>G	ENST00000372966.3	-	6	815	c.610T>C	c.(610-612)Ttc>Ctc	p.F204L	NOX1_ENST00000217885.5_Missense_Mutation_p.F204L|NOX1_ENST00000372960.4_Missense_Mutation_p.F167L|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	204	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTATACCAGAAGACTTCAAAA	0.463													218	48					0	0	0	0	G	100117442	A	G	100117442	3	3	5	1	0	0	0	0	1	0	0	0	10626	72	3	5	1116	5	NOX1	23	100117442	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	14122603	100117442	55153118	496	1615											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104478565	104478565	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagaatgaatcaggcctGtgctacaacagcaggatccg	13	6	12	10	1	1	2	1	1	0	1	2	4	2	3	2	2	4	3	2	2	4	1			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:104478565G>A	ENST00000372582.1	+	4	1176	c.420G>A	c.(418-420)ctG>ctA	p.L140L	IL1RAPL2_ENST00000344799.4_Silent_p.L140L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	140					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AATCAGGCCTGTGCTACAACA	0.403													152	39					0	0	0	0	A	104478565	G	A	104478565	2	1	5	1	0	0	0	0	0	0	0	1	7715	1364	48	4		4	IL1RAPL2	23	104478565	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08	4361123	104478565	50791995	497	1616											
GRIA3	2892	broad.mit.edu	37	chrX	122598930	122598930	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatctggattccaaaggctAtggtgtggcaacccctaaag	13	9	10	9	0	1	0	0	0	1	0	2	1	2	1	3	4	1	2	3	4	6	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:122598930A>T	ENST00000264357.5	+	13	2583	c.2291A>T	c.(2290-2292)tAt>tTt	p.Y764F	GRIA3_ENST00000371251.1_Missense_Mutation_p.Y764F|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y764F|GRIA3_ENST00000542149.1_Missense_Mutation_p.Y764F	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	764					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCCAAAGGCTATGGTGTGGCA	0.428													91	20					0	0	0	0	T	122598930	A	T	122598930	3	4	5	1	0	0	0	0	1	0	0	0	6819	449	16	5	2341	5	GRIA3	23	122598930	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	18120365	122598930	32671630	498	1617											
GPR112	139378	broad.mit.edu	37	chrX	135439903	135439903	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaatggctacaatttcctAtgtaccatacaggtaggaag	15	10	9	7	0	0	1	0	0	0	1	1	2	1	2	2	3	3	3	2	3	8	6			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:135439903A>T	ENST00000394143.1	+	10	7259	c.6968A>T	c.(6967-6969)tAt>tTt	p.Y2323F	GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Missense_Mutation_p.Y2118F|GPR112_ENST00000394141.1_Missense_Mutation_p.Y2118F|GPR112_ENST00000370652.1_Missense_Mutation_p.Y2323F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2323					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACAATTTCCTATGTACCATAC	0.368													147	35					0	0	0	0	T	135439903	A	T	135439903	3	4	5	1	0	0	0	0	1	0	0	0	6678	449	16	5	6994	5	GPR112	23	135439903	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	12840973	135439903	19830657	499	1618											
SLITRK4	139065	broad.mit.edu	37	chrX	142717687	142717687	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtctcccttaatcactgtaAtttgattgctgcctaaatga	10	15	6	10	1	2	2	1	2	1	0	3	2	2	2	2	0	2	2	2	0	4	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:142717687A>G	ENST00000381779.4	-	2	1463	c.1238T>C	c.(1237-1239)aTt>aCt	p.I413T	SLITRK4_ENST00000338017.4_Missense_Mutation_p.I413T|SLITRK4_ENST00000356928.1_Missense_Mutation_p.I413T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	413						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)					AATCACTGTAATTTGATTGCT	0.388													131	25					0	0	0	0	G	142717687	A	G	142717687	3	3	5	1	0	0	0	0	1	0	0	0	14833	101	4	5	1279	5	SLITRK4	23	142717687	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	7277784	142717687	12552873	500	1619											
SLITRK4	139065	broad.mit.edu	37	chrX	142717956	142717957	+	Frame_Shift_Ins	INS	-	-	T																															caatctgactgagattgcggINSttggagagggctttgcctgc																										TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:142717956_142717957insT	ENST00000381779.4	-	2	1193_1194	c.968_969insA	c.(967-969)acgfs	p.T323fs	SLITRK4_ENST00000356928.1_Frame_Shift_Ins_p.T323fs|SLITRK4_ENST00000338017.4_Frame_Shift_Ins_p.T323fs	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	323						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)					TGAGATTGCGGTTGGAGAGGGC	0.465													128	29	---	---	---	---					T	142717957	-	T	142717956	7	5	5	1	0	1	1	0	0	0	0	0	14833	1252	44	0	1548	0	SLITRK4	23	142717956	Frame_Shift_Ins	INS	-	TCGA-BA-4078-01A-01D-1434-08	269	142717956	12552604	501	1620											
SLITRK2	84631	broad.mit.edu	37	chrX	144905948	144905948	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagctcctttcaattacagTatgggtcttacaacactgag	12	13	7	9	0	2	1	1	1	1	0	3	1	3	1	1	1	4	2	1	1	6	5			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:144905948T>A	ENST00000370490.1	+	1	6260	c.2005T>A	c.(2005-2007)Tat>Aat	p.Y669N	SLITRK2_ENST00000447897.2_Missense_Mutation_p.Y669N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.Y669N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.Y669N|SLITRK2_ENST00000434188.2_Missense_Mutation_p.Y669N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	669						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATTACAGTATGGGTCTTA	0.478													85	15					0	0	0	0	A	144905948	T	A	144905948	3	1	5	1	0	0	0	0	1	0	0	0	14831	1638	57	5	2007	5	SLITRK2	23	144905948	Missense_Mutation	SNP	T	TCGA-BA-4078-01A-01D-1434-08	2187992	144905948	10364612	502	1621											
GABRA3	2556	broad.mit.edu	37	chrX	151514091	151514091	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggttgtcatagccgtccAgaagacgatccaagattctg	10	9	11	11	3	2	3	1	0	1	3	4	4	4	3	4	1	1	1	4	1	3	3			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:151514091A>G	ENST00000370314.4	-	3	462	c.224T>C	c.(223-225)cTg>cCg	p.L75P	GABRA3_ENST00000370311.1_Missense_Mutation_p.L75P|GABRA3_ENST00000535043.1_Missense_Mutation_p.L75P	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	75					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATAGCCGTCCAGAAGACGATC	0.473													67	14					0	0	0	0	G	151514091	A	G	151514091	3	3	5	1	0	0	0	0	1	0	0	0	6210	188	7	5	1286	5	GABRA3	23	151514091	Missense_Mutation	SNP	A	TCGA-BA-4078-01A-01D-1434-08	6608143	151514091	3756469	503	1622											
MAGEA6	4105	broad.mit.edu	37	chrX	151869846	151869846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggccacgtgtacatctttgCcacctgcctgggcctctcct	4	11	9	17	2	2	0	0	0	2	0	3	0	2	0	6	2	3	1	6	2	1	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:151869846C>G	ENST00000329342.5	+	3	761	c.536C>G	c.(535-537)gCc>gGc	p.A179G		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	179	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TACATCTTTGCCACCTGCCTG	0.527													102	18					0	0	0	0	G	151869846	C	G	151869846	3	3	5	1	0	0	0	0	1	0	0	0	9237	739	26	4	538	4	MAGEA6	23	151869846	Missense_Mutation	SNP	C	TCGA-BA-4078-01A-01D-1434-08	355755	151869846	3400714	504	1623											
RPS4Y2	140032	broad.mit.edu	37	chrY	22930714	22930714	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttgtgcaaagtgaggaaGattactgtggggacaaaggg	14	8	16	3	0	0	2	0	1	0	1	0	4	0	4	0	4	2	2	0	4	5	2			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrY:22930714G>A	ENST00000288666.5	+	5	384	c.384G>A	c.(382-384)aaG>aaA	p.K128K		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	128					translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						AAGTGAGGAAGATTACTGTGG	0.438													49	8					0	0	0	0	A	22930714	G	A	22930714	2	1	5	1	0	0	0	0	0	0	0	1	13732	933	33	2		2	RPS4Y2	24	22930714	Silent	SNP	G	TCGA-BA-4078-01A-01D-1434-08		22930714	36442852	505	1624											
HTR1D	3352	broad.mit.edu	37	chr1	23520575	23520575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtggccagtgtgatgacGgaaaggaccacggcaaggga	12	5	16	8	2	0	2	0	2	0	0	0	5	0	5	2	5	0	1	2	5	2	0			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:23520575G>A	ENST00000374619.1	-	1	647	c.138C>T	c.(136-138)tcC>tcT	p.S46S	HTR1D_ENST00000314113.3_Silent_p.S46S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	46					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GTGTGATGACGGAAAGGACCA	0.572													91	101					0	0	0	0	A	23520575	G	A	23520575	2	1	6	1	0	0	0	0	0	0	0	1	7491	1103	39	1		1	HTR1D	1	23520575	Silent	SNP	G	TCGA-BA-5149-01A-01D-1512-08		23520575	225730046	1	1625											
S100PBP	64766	broad.mit.edu	37	chr1	33295639	33295639	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggagtgtcattgctcAtatagaagacccagaggaca	13	9	10	9	0	3	3	3	0	1	3	4	5	3	5	1	2	1	1	1	2	3	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:33295639A>C	ENST00000373475.5	+	5	1249	c.995A>C	c.(994-996)cAt>cCt	p.H332P	S100PBP_ENST00000398243.3_Missense_Mutation_p.H331P|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.H332P	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	332						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GTCATTGCTCATATAGAAGAC	0.403													29	140					0	0	0	0	C	33295639	A	C	33295639	3	2	6	1	0	0	0	0	1	0	0	0	13876	217	8	5	1005	5	S100PBP	1	33295639	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	9775064	33295639	215954982	2	1626											
WLS	79971	broad.mit.edu	37	chr1	68613869	68613869	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatactgtagaagggattcgTgagttgtacccctctacaaa	12	11	10	8	1	1	2	0	1	1	1	2	4	1	3	2	1	3	3	2	1	6	6			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:68613869T>G	ENST00000262348.4	-	8	1337	c.1084A>C	c.(1084-1086)Acg>Ccg	p.T362P	GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000540432.1_Missense_Mutation_p.T362P|WLS_ENST00000354777.2_Missense_Mutation_p.T360P|WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.T271P	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	362					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						AAGGGATTCGTGAGTTGTACC	0.443													21	183					0	0	0	0	G	68613869	T	G	68613869	3	3	6	1	0	0	0	0	1	0	0	0	17472	1696	59	5	687	5	WLS	1	68613869	Missense_Mutation	SNP	T	TCGA-BA-5149-01A-01D-1512-08	35318230	68613869	180636752	3	1627											
CTH	1491	broad.mit.edu	37	chr1	70881666	70881666	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatatagccgttctggaaatCccactaggaattgccttgaa	13	11	8	9	1	1	1	0	1	1	0	2	3	2	3	3	2	2	1	3	2	7	6			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:70881666C>G	ENST00000411986.2	+	2	394	c.196C>G	c.(196-198)Ccc>Gcc	p.P66A	CTH_ENST00000464926.1_3'UTR|CTH_ENST00000346806.2_Missense_Mutation_p.P66A|CTH_ENST00000370938.3_Missense_Mutation_p.P66A	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	66					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TTCTGGAAATCCCACTAGGAA	0.358													15	95					0	0	0	0	G	70881666	C	G	70881666	3	3	6	1	0	0	0	0	1	0	0	0	4041	855	30	2	202	2	CTH	1	70881666	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	2267797	70881666	178368955	4	1628											
CCBL2	56267	broad.mit.edu	37	chr1	89427140	89427140	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttactttccagttcttgaGgatctaatgtccagtcagaa	11	15	7	8	0	3	2	1	1	2	1	5	3	5	3	2	1	1	1	2	1	3	6			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:89427140G>C	ENST00000260508.4	-	7	927	c.590C>G	c.(589-591)cCt>cGt	p.P197R	CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.P163R|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	197					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAGTTCTTGAGGATCTAATGT	0.323													40	209					0	0	0	0	C	89427140	G	C	89427140	3	2	6	1	0	0	0	0	1	0	0	0	2758	1000	35	4	806	4	CCBL2	1	89427140	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	18545474	89427140	159823481	5	1629											
FLG	2312	broad.mit.edu	37	chr1	152281203	152281203	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactgactgtgtgtctgaGtcttctgaatgtccctcact	7	14	9	11	0	4	3	1	3	3	0	5	4	5	3	1	0	0	0	1	0	1	1			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:152281203G>C	ENST00000368799.1	-	3	6194	c.6159C>G	c.(6157-6159)gaC>gaG	p.D2053E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2053	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTGTCTGAGTCTTCTGAAT	0.562									Ichthyosis				17	798					0	0	0	0	C	152281203	G	C	152281203	3	2	6	1	0	0	0	0	1	0	0	0	5967	1020	36	4	6030	4	FLG	1	152281203	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	62854063	152281203	96969418	6	1630			1	2		2	2	22	G		9.157532e-05
FLG	2312	broad.mit.edu	37	chr1	152281224	152281224	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgaatgtccctcactGtcactggcctgactaccact	7	13	6	15	0	4	2	2	2	2	0	5	2	5	2	3	1	1	0	3	1	2	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:152281224G>A	ENST00000368799.1	-	3	6173	c.6138C>T	c.(6136-6138)gaC>gaT	p.D2046D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2046	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCCTCACTGTCACTGGCCT	0.562									Ichthyosis				21	833					0	0	0	0	A	152281224	G	A	152281224	2	1	6	1	0	0	0	0	0	0	0	1	5967	1368	48	4		4	FLG	1	152281224	Silent	SNP	G	TCGA-BA-5149-01A-01D-1512-08	21	152281224	96969397	7	1631			1	2		2	2	22	G		9.157532e-05
NAV1	89796	broad.mit.edu	37	chr1	201751710	201751710	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccggcgggcggggtggAcctcgccctgtgagcagcag	5	5	19	12	4	0	2	0	2	0	0	1	3	0	3	3	5	2	2	3	5	0	0			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:201751710A>T	ENST00000367296.4	+	6	2490	c.2070A>T	c.(2068-2070)ggA>ggT	p.G690G	NAV1_ENST00000367300.3_Silent_p.G690G|NAV1_ENST00000367297.4_Silent_p.G690G|NAV1_ENST00000367302.1_Silent_p.G703G|NAV1_ENST00000367295.1_Silent_p.G299G|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.G690G	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	690					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGCGGGGTGGACCTCGCCCTG	0.627													47	44					0	0	0	0	T	201751710	A	T	201751710	2	4	6	1	0	0	0	0	0	0	0	1	10253	262	10	5		5	NAV1	1	201751710	Silent	SNP	A	TCGA-BA-5149-01A-01D-1512-08	49470486	201751710	47498911	8	1632											
APOB	338	broad.mit.edu	37	chr2	21228715	21228715	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcatagactggtaggatGatatttttgaggaaccttag	11	15	11	4	0	1	3	1	2	0	1	1	5	1	5	1	3	1	1	1	3	5	7			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:21228715G>T	ENST00000233242.1	-	26	11152	c.11025C>A	c.(11023-11025)atC>atA	p.I3675I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3675					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGTAGGATGATATTTTTGA	0.458													58	87					1.17673e-23	1.4283e-23	1	0	T	21228715	G	T	21228715	2	4	6	1	0	0	0	0	0	0	0	1	787	1280	45	2		2	APOB	2	21228715	Silent	SNP	G	TCGA-BA-5149-01A-01D-1512-08		21228715	221970658	9	1633											
LTBP1	4052	broad.mit.edu	37	chr2	33500964	33500964	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactgtgacagcgggtaccGcatgactcagagaggccgtt	10	8	13	10	3	1	3	1	2	0	1	1	4	1	3	2	2	3	3	2	2	2	3	rs142262862		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:33500964G>C	ENST00000404816.2	+	18	3319	c.2966G>C	c.(2965-2967)cGc>cCc	p.R989P	LTBP1_ENST00000402934.1_Missense_Mutation_p.R610P|LTBP1_ENST00000354476.3_Missense_Mutation_p.R990P|LTBP1_ENST00000418533.2_Missense_Mutation_p.R663P|LTBP1_ENST00000407925.1_Missense_Mutation_p.R663P|LTBP1_ENST00000404525.1_Missense_Mutation_p.R610P|LTBP1_ENST00000390003.4_Missense_Mutation_p.R664P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	989	EGF-like 6; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCGGGTACCGCATGACTCAG	0.572													27	121					0	0	0	0	C	33500964	G	C	33500964	3	2	6	1	0	0	0	0	1	0	0	0	9137	1087	38	3	3091	3	LTBP1	2	33500964	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	12272249	33500964	209698409	10	1634											
SLC8A1	6546	broad.mit.edu	37	chr2	40657152	40657152	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctatgatagagactccaAgaaacatgtagaccatggcc	15	7	9	10	0	0	4	0	1	0	3	1	5	1	4	3	1	2	2	3	1	5	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:40657152A>C	ENST00000406785.1	-	2	458	c.269T>G	c.(268-270)cTt>cGt	p.L90R	SLC8A1_ENST00000402441.1_Missense_Mutation_p.L90R|SLC8A1_ENST00000332839.4_Missense_Mutation_p.L90R|SLC8A1_ENST00000403092.1_Missense_Mutation_p.L90R|SLC8A1_ENST00000542756.1_Missense_Mutation_p.L90R|SLC8A1_ENST00000542024.1_Missense_Mutation_p.L90R|SLC8A1_ENST00000408028.2_Missense_Mutation_p.L90R|SLC8A1_ENST00000406391.2_Missense_Mutation_p.L90R|SLC8A1_ENST00000405901.3_Missense_Mutation_p.L90R|SLC8A1_ENST00000405269.1_Missense_Mutation_p.L90R			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	90					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	AGAGACTCCAAGAAACATGTA	0.423													88	115					0	0	0	0	C	40657152	A	C	40657152	3	2	6	1	0	0	0	0	1	0	0	0	14794	72	3	5	2800	5	SLC8A1	2	40657152	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	7156188	40657152	202542221	11	1635											
UBXN4	23190	broad.mit.edu	37	chr2	136499550	136499550	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccatcgcgacggccaaaagGagcggcgcggtcttcgtggt	7	6	16	12	7	1	0	0	0	1	0	3	2	1	1	2	5	1	0	2	5	2	1			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:136499550G>A	ENST00000272638.9	+	1	362	c.51G>A	c.(49-51)agG>agA	p.R17R		NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	17					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CGGCCAAAAGGAGCGGCGCGG	0.672													6	22					0	0	0	0	A	136499550	G	A	136499550	2	1	6	1	0	0	0	0	0	0	0	1	17012	1165	41	2		2	UBXN4	2	136499550	Silent	SNP	G	TCGA-BA-5149-01A-01D-1512-08	95842398	136499550	106699823	12	1636											
GPD2	2820	broad.mit.edu	37	chr2	157426617	157426617	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggcacagcatcttgccGccacctatggtgataaggcc	9	8	12	12	1	1	1	0	1	1	0	1	1	1	1	4	4	2	2	4	4	2	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:157426617G>C	ENST00000310454.6	+	12	1867	c.1495G>C	c.(1495-1497)Gcc>Ccc	p.A499P	GPD2_ENST00000409125.4_Missense_Mutation_p.A272P|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409674.1_Missense_Mutation_p.A499P|GPD2_ENST00000438166.2_Missense_Mutation_p.A499P	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	499					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GCATCTTGCCGCCACCTATGG	0.458													22	119					0	0	0	0	C	157426617	G	C	157426617	3	2	6	1	0	0	0	0	1	0	0	0	6655	1087	38	3	1537	3	GPD2	2	157426617	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	20927067	157426617	85772756	13	1637											
DPP4	1803	broad.mit.edu	37	chr2	162849867	162849867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtgctgtgctgctagCtattccatggtcttcatcag	5	16	11	9	0	3	0	2	0	1	0	4	0	4	0	1	2	4	4	1	2	2	5			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:162849867C>T	ENST00000360534.3	-	26	2787	c.2227G>A	c.(2227-2229)Gct>Act	p.A743T		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	743					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GTGCTGCTAGCTATTCCATGG	0.343													47	193					0	0	0	0	T	162849867	C	T	162849867	3	4	6	1	0	0	0	0	1	0	0	0	4765	797	28	4	77	4	DPP4	2	162849867	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	5423250	162849867	80349506	14	1638											
ZDBF2	57683	broad.mit.edu	37	chr2	207170711	207170711	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagcctggttgaccaaagcTatgaatctagtagttctgaa	12	13	9	7	0	2	3	0	3	2	0	2	3	2	3	2	1	2	4	2	1	7	6			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:207170711T>G	ENST00000374423.3	+	5	1845	c.1459T>G	c.(1459-1461)Tat>Gat	p.Y487D		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	487							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGACCAAAGCTATGAATCTAG	0.383													4	72					0	0	0	0	G	207170711	T	G	207170711	3	3	6	1	0	0	0	0	1	0	0	0	17694	1522	53	5	1469	5	ZDBF2	2	207170711	Missense_Mutation	SNP	T	TCGA-BA-5149-01A-01D-1512-08	44320844	207170711	36028662	15	1639											
STK16	8576	broad.mit.edu	37	chr2	220113249	220113250	+	In_Frame_Ins	INS	-	-	CAG																															gctggaggcgcttcagccccINScagctcctggccaacatact																										TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:220113249_220113250insCAG	ENST00000409638.3	+	8	1058_1059	c.886_887insCAG	c.(886-888)agc>CAGagc	p.295_296insQ	STK16_ENST00000409260.1_In_Frame_Ins_p.340_341insQ|STK16_ENST00000409516.3_In_Frame_Ins_p.177_178insQ|STK16_ENST00000396738.2_In_Frame_Ins_p.295_296insQ|STK16_ENST00000409743.1_In_Frame_Ins_p.263_264insQ	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	295					protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTTCAGCCCCCAGCTCCTGGC	0.55													22	162	---	---	---	---					CAG	220113250	-	CAG	220113249	7	5	6	1	0	1	1	0	0	0	0	0	15379	623	22	0	912	0	STK16	2	220113249	In_Frame_Ins	INS	-	TCGA-BA-5149-01A-01D-1512-08	12942538	220113249	23086124	16	1640											
RBM44	375316	broad.mit.edu	37	chr2	238726675	238726675	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaagctttagagacattactCcaaccctgtaaagattgtca	15	11	6	9	0	1	2	1	0	0	2	2	3	2	2	2	0	3	2	2	0	6	5			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:238726675C>G	ENST00000316997.4	+	3	1248	c.1116C>G	c.(1114-1116)ctC>ctG	p.L372L	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Silent_p.L372L	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	371							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGACATTACTCCAACCCTGTA	0.353													34	110					0	0	0	0	G	238726675	C	G	238726675	2	3	6	1	0	0	0	0	0	0	0	1	13220	842	30	2		2	RBM44	2	238726675	Silent	SNP	C	TCGA-BA-5149-01A-01D-1512-08	18613426	238726675	4472698	17	1641											
SLC4A7	9497	broad.mit.edu	37	chr3	27490193	27490193	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgattctttatcttttcTtctccggtggtgatgtttgt	4	22	8	7	1	5	2	0	2	5	0	6	2	5	2	1	2	0	1	1	2	1	7			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:27490193T>A	ENST00000295736.5	-	3	281	c.211A>T	c.(211-213)Aga>Tga	p.R71*	SLC4A7_ENST00000435667.2_Nonsense_Mutation_p.R80*|SLC4A7_ENST00000440156.1_Nonsense_Mutation_p.R80*|SLC4A7_ENST00000388777.4_De_novo_Start_OutOfFrame|SLC4A7_ENST00000437179.1_Nonsense_Mutation_p.R76*|SLC4A7_ENST00000428386.1_Nonsense_Mutation_p.R71*|SLC4A7_ENST00000425128.2_Nonsense_Mutation_p.R76*|SLC4A7_ENST00000446700.1_Nonsense_Mutation_p.R76*|SLC4A7_ENST00000454389.1_Nonsense_Mutation_p.R80*|SLC4A7_ENST00000445684.1_Nonsense_Mutation_p.R80*|SLC4A7_ENST00000455077.1_Nonsense_Mutation_p.R76*	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	71						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TTATCTTTTCTTCTCCGGTGG	0.408													78	71					0	0	0	0	A	27490193	T	A	27490193	4	1	6	1	0	0	0	0	0	1	0	0	14746	1617	56	5	3525	5	SLC4A7	3	27490193	Nonsense_Mutation	SNP	T	TCGA-BA-5149-01A-01D-1512-08		27490193	170532237	18	1642											
ABHD5	51099	broad.mit.edu	37	chr3	43756504	43756504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcttcaatgttcgaagacGatactgtgacagaatacatc	14	12	7	8	2	2	3	1	1	1	2	4	5	2	3	0	0	2	1	0	0	5	5			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:43756504G>A	ENST00000458276.2	+	5	850	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	243					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GTTCGAAGACGATACTGTGAC	0.383													31	101					0	0	0	0	A	43756504	G	A	43756504	3	1	6	1	0	0	0	0	1	0	0	0	85	1058	37	1	745	1	ABHD5	3	43756504	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	16266311	43756504	154265926	19	1643											
TREX1	11277	broad.mit.edu	37	chr3	48507992	48507993	+	Frame_Shift_Del	DEL	CT	CT	-																															ctccccttcggatcttaacaCtgggcactcacacacccacc																										TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:48507992_48507993delCT	ENST00000422277.2	+	1	764_765	c.103_104delCT	c.(103-105)gfs	p.L35fs	TREX1_ENST00000492235.1_Intron|TREX1_ENST00000436480.2_Intron|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000296443.9_Intron|TREX1_ENST00000433541.1_Intron|TREX1_ENST00000444177.1_Intron	NM_016381.3	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	35					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GATCTTAACACTGGGCACTCAC	0.658													101	153	---	---	---	---					-	48507993	CT	-	48507992	7	5	6	1	0	1	0	1	0	0	0	0	16571	564	20	0	105	0	TREX1	3	48507992	Frame_Shift_Del	DEL	CT	TCGA-BA-5149-01A-01D-1512-08	4751488	48507992	149514438	20	1644											
HESX1	8820	broad.mit.edu	37	chr3	57232884	57232884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagtaattttcatatttcGaagctctttcttctggcatt	11	18	5	7	1	4	0	1	0	3	0	5	1	4	0	0	1	1	3	0	1	5	8	rs149663188		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:57232884G>A	ENST00000295934.3	-	2	290	c.254C>T	c.(253-255)tCg>tTg	p.S85L	HESX1_ENST00000473921.1_Missense_Mutation_p.S85L	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	85						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S85L(1)		large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TTCATATTTCGAAGCTCTTTC	0.418													128	367					0	0	0	0	A	57232884	G	A	57232884	3	1	6	1	0	0	0	0	1	0	0	0	7122	1059	37	1	315	1	HESX1	3	57232884	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	8724892	57232884	140789546	21	1645											
POU1F1	5449	broad.mit.edu	37	chr3	87322645	87322645	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atcaaagacaaaatagatggGactggtaagaaaatgtataa	21	8	9	3	0	1	3	1	0	0	3	1	4	1	4	0	2	0	2	0	2	9	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:87322645G>C	ENST00000344265.3	-	2	185	c.142_splice	c.e2-1	p.V48_splice	POU1F1_ENST00000350375.2_Intron|POU1F1_ENST00000560656.1_Intron	NM_001122757.1	NP_001116229.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	47					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		AAATAGATGGGACTGGTAAGA	0.343													7	19					0	0	0	0	C	87322645	G	C	87322645	5	2	6	1	0	0	0	0	0	0	1	0	12340	1188	41	2	829	2	POU1F1	3	87322645	Splice_Site	SNP	G	TCGA-BA-5149-01A-01D-1512-08	30089761	87322645	110699785	22	1646											
IFT57	55081	broad.mit.edu	37	chr3	107941068	107941068	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatgtggtaggccgcgccGggcccccgctccaagaccac	8	4	12	17	4	0	1	0	0	0	1	1	1	1	1	6	3	1	2	6	3	3	1	rs150114125		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:107941068G>T	ENST00000264538.3	-	1	349	c.102C>A	c.(100-102)ccC>ccA	p.P34P		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	34					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			AGGCCGCGCCGGGCCCCCGCT	0.637													21	43					3.83957e-06	4.22353e-06	1	0	T	107941068	G	T	107941068	2	4	6	1	0	0	0	0	0	0	0	1	7615	1103	39	3		3	IFT57	3	107941068	Silent	SNP	G	TCGA-BA-5149-01A-01D-1512-08	20618423	107941068	90081362	23	1647											
NR1I2	8856	broad.mit.edu	37	chr3	119533912	119533912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcaacacagtgttcaatgCggagactggaacctgggagt	12	9	12	8	1	2	1	2	0	0	1	2	4	2	3	1	3	3	1	1	3	3	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:119533912C>T	ENST00000393716.2	+	6	2720	c.881C>T	c.(880-882)gCg>gTg	p.A294V	NR1I2_ENST00000466380.1_Missense_Mutation_p.A257V|NR1I2_ENST00000337940.4_Missense_Mutation_p.A333V	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	294	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GTGTTCAATGCGGAGACTGGA	0.597													16	94					0	0	0	0	T	119533912	C	T	119533912	3	4	6	1	0	0	0	0	1	0	0	0	10691	768	27	1	1020	1	NR1I2	3	119533912	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	11592844	119533912	78488518	24	1648											
EEFSEC	60678	broad.mit.edu	37	chr3	128060189	128060189	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctaagctgctggagcgCgggttggtgtgtgcccccga	5	8	16	12	3	0	0	0	0	0	0	0	3	0	1	3	3	4	3	3	3	1	2	rs114698998	byFrequency	TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:128060189C>T	ENST00000254730.6	+	5	954	c.900C>T	c.(898-900)cgC>cgT	p.R300R	EEFSEC_ENST00000483457.1_Silent_p.R245R|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	300						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TGCTGGAGCGCGGGTTGGTGT	0.592													42	99					0	0	0	0	T	128060189	C	T	128060189	2	4	6	1	0	0	0	0	0	0	0	1	4967	755	27	1		1	EEFSEC	3	128060189	Silent	SNP	C	TCGA-BA-5149-01A-01D-1512-08	8526277	128060189	69962241	25	1649											
COL6A6	131873	broad.mit.edu	37	chr3	130292957	130292957	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataggagcggcccagtttagCgatacctatcacccggagtt	10	9	11	11	3	1	0	1	0	0	0	1	3	1	2	3	3	3	2	3	3	4	6			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:130292957C>T	ENST00000358511.6	+	7	3166	c.3135C>T	c.(3133-3135)agC>agT	p.S1045S	COL6A6_ENST00000453409.2_Silent_p.S1045S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1045	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCCAGTTTAGCGATACCTATC	0.418													24	55					0	0	0	0	T	130292957	C	T	130292957	2	4	6	1	0	0	0	0	0	0	0	1	3733	767	27	1		1	COL6A6	3	130292957	Silent	SNP	C	TCGA-BA-5149-01A-01D-1512-08	2232768	130292957	67729473	26	1650											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			40	75					0	0	0	0	T	178952085	A	T	178952085	3	4	6	1	0	0	0	0	1	0	0	0	11985	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	48659128	178952085	19070345	27	1651											
KLHL6	89857	broad.mit.edu	37	chr3	183210339	183210339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgcatttagcctccacggGcatggccgccttcaaactcc	8	9	9	15	2	1	0	1	0	0	0	3	1	3	0	5	2	3	2	5	2	2	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:183210339G>A	ENST00000341319.3	-	6	1542	c.1507C>T	c.(1507-1509)Ccc>Tcc	p.P503S		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	503										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCCTCCACGGGCATGGCCGCC	0.517													4	146					0	0	0	0	A	183210339	G	A	183210339	3	1	6	1	0	0	0	0	1	0	0	0	8445	1203	42	4	366	4	KLHL6	3	183210339	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	4258254	183210339	14812091	28	1652											
CRYGS	1427	broad.mit.edu	37	chr3	186257359	186257359	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtcatagcgacggccttGaaaatttttgtcttcataga	12	13	8	8	2	3	2	2	1	1	1	3	3	3	2	1	1	1	0	1	1	4	6			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:186257359G>C	ENST00000392499.2	-	3	388	c.49C>G	c.(49-51)Caa>Gaa	p.Q17E	CRYGS_ENST00000307944.5_Missense_Mutation_p.Q17E	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	17	Beta/gamma crystallin 'Greek key' 1.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		CGACGGCCTTGAAAATTTTTG	0.433													23	99					0	0	0	0	C	186257359	G	C	186257359	3	2	6	1	0	0	0	0	1	0	0	0	3949	1299	45	2	495	2	CRYGS	3	186257359	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	3047020	186257359	11765071	29	1653											
CRMP1	1400	broad.mit.edu	37	chr4	5862807	5862807	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcccttggaagaagtcatCagccgcagtcatcccctggg	8	8	12	13	1	3	1	3	0	0	1	5	2	5	2	4	3	1	1	4	3	2	1			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:5862807C>G	ENST00000324989.7	-	3	689	c.601G>C	c.(601-603)Gat>Cat	p.D201H	CRMP1_ENST00000397890.2_Missense_Mutation_p.D87H|CRMP1_ENST00000512574.1_Missense_Mutation_p.D85H|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	87					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		AAGAAGTCATCAGCCGCAGTC	0.572													30	68					0	0	0	0	G	5862807	C	G	5862807	3	3	6	1	0	0	0	0	1	0	0	0	3920	826	29	2	1507	2	CRMP1	4	5862807	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08		5862807	185291469	30	1654											
UGDH	7358	broad.mit.edu	37	chr4	39523092	39523092	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacatgtgggtcctccaacaTagcctgcaccgatgcaacag	11	8	9	13	1	0	0	0	0	0	0	2	1	2	0	4	1	6	2	4	1	4	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:39523092T>C	ENST00000316423.6	-	2	383	c.41A>G	c.(40-42)tAt>tGt	p.Y14C	UGDH_ENST00000507089.1_Intron|UGDH_ENST00000506179.1_Missense_Mutation_p.Y14C|UGDH_ENST00000501493.2_Missense_Mutation_p.Y14C|UGDH_ENST00000515398.1_Intron	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	14					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TCCTCCAACATAGCCTGCACC	0.373													28	97					0	0	0	0	C	39523092	T	C	39523092	3	2	6	1	0	0	0	0	1	0	0	0	17036	1406	49	5	1487	5	UGDH	4	39523092	Missense_Mutation	SNP	T	TCGA-BA-5149-01A-01D-1512-08	33660285	39523092	151631184	31	1655											
GRXCR1	389207	broad.mit.edu	37	chr4	42965026	42965026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agattttccaaaaccatcgcGtaaaatttgaagagaaaaac	19	9	6	7	2	0	3	0	1	0	2	2	4	1	3	2	0	2	1	2	0	7	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:42965026G>A	ENST00000399770.2	+	2	502	c.502G>A	c.(502-504)Gta>Ata	p.V168I		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	168	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.V168I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AAACCATCGCGTAAAATTTGA	0.428													5	325					0	0	0	0	A	42965026	G	A	42965026	3	1	6	1	0	0	0	0	1	0	0	0	6862	1145	40	1	508	1	GRXCR1	4	42965026	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	3441934	42965026	148189250	32	1656											
PROL1	58503	broad.mit.edu	37	chr4	71275443	71275443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattcctttttttcttgctaTttaccttcctatctctaacc	6	22	1	12	0	2	0	0	0	2	0	5	0	4	0	4	0	3	1	4	0	5	12			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:71275443T>C	ENST00000399575.2	+	3	572	c.398T>C	c.(397-399)aTt>aCt	p.I133T	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	133	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTTCTTGCTATTTACCTTCCT	0.443													56	210					0	0	0	0	C	71275443	T	C	71275443	3	2	6	1	0	0	0	0	1	0	0	0	12634	1493	52	5	404	5	PROL1	4	71275443	Missense_Mutation	SNP	T	TCGA-BA-5149-01A-01D-1512-08	28310417	71275443	119878833	33	1657											
ANK2	287	broad.mit.edu	37	chr4	114294489	114294489	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctctgaaggcacagagAaagaagagattatggtgcag	15	8	12	6	0	1	4	0	1	1	3	2	6	2	4	1	2	1	2	1	2	5	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:114294489A>C	ENST00000357077.4	+	45	11796	c.11743A>C	c.(11743-11745)Aaa>Caa	p.K3915Q	ANK2_ENST00000509550.1_Missense_Mutation_p.K1006Q|ANK2_ENST00000510275.2_Missense_Mutation_p.K513Q|ANK2_ENST00000394537.3_Missense_Mutation_p.K1830Q|ANK2_ENST00000506722.1_Missense_Mutation_p.K1821Q|ANK2_ENST00000264366.6_Missense_Mutation_p.K3882Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3882					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGCACAGAGAAAGAAGAGAT	0.403													57	88					0	0	0	0	C	114294489	A	C	114294489	3	2	6	1	0	0	0	0	1	0	0	0	621	247	9	5	11986	5	ANK2	4	114294489	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	43019046	114294489	76859787	34	1658											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005580	118005580	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgaatattagaatcttctaCccacctctgaagccagagag	13	10	7	11	0	3	4	0	2	3	2	3	5	3	4	3	0	2	0	3	0	6	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:118005580C>A	ENST00000310754.4	-	1	1156	c.970G>T	c.(970-972)Gta>Tta	p.V324L		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	324	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GAATCTTCTACCCACCTCTGA	0.408													135	198					1.85997e-60	2.2733e-60	1	0	A	118005580	C	A	118005580	3	1	6	1	0	0	0	0	1	0	0	0	16547	507	18	4	143	4	TRAM1L1	4	118005580	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	3711091	118005580	73148696	35	1659											
DCHS2	54798	broad.mit.edu	37	chr4	155156833	155156833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgattgaaaagctgctggCgaacactgccaagggtgttc	10	9	13	9	1	0	2	0	2	0	0	1	3	0	2	1	2	4	4	1	2	4	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:155156833C>A	ENST00000357232.3	-	25	7605	c.7606G>T	c.(7606-7608)Gcc>Tcc	p.A2536S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2536					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAGCTGCTGGCGAACACTGCC	0.393													16	94					1.02788e-11	1.17472e-11	1	0	A	155156833	C	A	155156833	3	1	6	1	0	0	0	0	1	0	0	0	4320	768	27	3	1148	3	DCHS2	4	155156833	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	37151253	155156833	35997443	36	1660											
TKTL2	84076	broad.mit.edu	37	chr4	164393537	164393537	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatggcatcacttggataGaaaacagtacaattgggaat	16	9	11	5	0	1	2	1	0	0	2	1	5	1	4	0	3	2	2	0	3	6	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:164393537G>C	ENST00000280605.3	-	1	1510	c.1350C>G	c.(1348-1350)ttC>ttG	p.F450L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	450						cytoplasm	metal ion binding|transketolase activity	p.F450F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CACTTGGATAGAAAACAGTAC	0.488													39	131					0	0	0	0	C	164393537	G	C	164393537	3	2	6	1	0	0	0	0	1	0	0	0	16030	933	33	2	534	2	TKTL2	4	164393537	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	9236704	164393537	26760739	37	1661											
DNAH5	1767	broad.mit.edu	37	chr5	13721351	13721351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtccacgatgtacttgcGggcctgccaaaaacagtata	12	8	11	10	2	0	0	0	0	0	0	1	2	1	1	3	2	4	2	3	2	5	4	rs148349630		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:13721351G>A	ENST00000265104.4	-	71	12141	c.12037C>T	c.(12037-12039)Cgc>Tgc	p.R4013C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4013	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGTACTTGCGGGCCTGCCAA	0.408									Kartagener syndrome				52	84					0	0	0	0	A	13721351	G	A	13721351	3	1	6	1	0	0	0	0	1	0	0	0	4641	1116	39	1	1873	1	DNAH5	5	13721351	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08		13721351	167193909	38	1662											
MAP3K1	4214	broad.mit.edu	37	chr5	56170929	56170929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagagatggccctcaggcGtctttcccatgatgtcagtg	8	10	13	10	1	3	3	2	1	1	2	4	5	4	3	2	2	0	0	2	2	0	1			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:56170929G>A	ENST00000399503.3	+	10	1757	c.1757G>A	c.(1756-1758)cGt>cAt	p.R586H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	586					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCCCTCAGGCGTCTTTCCCAT	0.527													48	277					0	0	0	0	A	56170929	G	A	56170929	3	1	6	1	0	0	0	0	1	0	0	0	9312	1145	40	1	1795	1	MAP3K1	5	56170929	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	42449578	56170929	124744331	39	1663											
HTR1A	3350	broad.mit.edu	37	chr5	63256858	63256858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcttctccacctttttgAccgtcttgcggatgcggaag	5	13	11	12	4	3	1	0	1	3	0	4	3	3	3	3	3	2	0	3	3	1	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:63256858A>G	ENST00000323865.3	-	1	922	c.689T>C	c.(688-690)gTc>gCc	p.V230A	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	230					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CACCTTTTTGACCGTCTTGCG	0.587													4	99					0	0	0	0	G	63256858	A	G	63256858	3	3	6	1	0	0	0	0	1	0	0	0	7489	275	10	5	582	5	HTR1A	5	63256858	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	7085929	63256858	117658402	40	1664											
SLCO4C1	353189	broad.mit.edu	37	chr5	101606380	101606380	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatcaagaaaggctgtTcccagagtataaagaggagt	16	8	11	6	0	2	3	2	0	0	3	3	5	3	4	1	2	0	3	1	2	6	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:101606380T>A	ENST00000310954.6	-	3	1036	c.750A>T	c.(748-750)ggA>ggT	p.G250G		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	250					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GAAAGGCTGTTCCCAGAGTAT	0.388													9	104					0	0	0	0	A	101606380	T	A	101606380	2	1	6	1	0	0	0	0	0	0	0	1	14818	1770	62	5		5	SLCO4C1	5	101606380	Silent	SNP	T	TCGA-BA-5149-01A-01D-1512-08	38349522	101606380	79308880	41	1665											
DMXL1	1657	broad.mit.edu	37	chr5	118469800	118469800	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggagtttctgagcttgcccgGattaattctcttcatgtttc	6	17	9	9	1	3	1	1	1	2	0	5	3	3	3	1	2	2	3	1	2	1	6			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:118469800G>A	ENST00000311085.8	+	12	2261	c.2181G>A	c.(2179-2181)cgG>cgA	p.R727R	DMXL1_ENST00000539542.1_Silent_p.R727R	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	727										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGCTTGCCCGGATTAATTCTC	0.443													26	257					0	0	0	0	A	118469800	G	A	118469800	2	1	6	1	0	0	0	0	0	0	0	1	4631	1161	41	2		2	DMXL1	5	118469800	Silent	SNP	G	TCGA-BA-5149-01A-01D-1512-08	16863420	118469800	62445460	42	1666											
PRR16	51334	broad.mit.edu	37	chr5	120021755	120021755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagctcaagtggcacaacagCctccagcctagagaagatca	14	6	9	12	0	2	2	2	0	0	2	3	3	3	2	3	1	4	2	3	1	5	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:120021755C>A	ENST00000379551.2	+	3	554	c.197C>A	c.(196-198)gCc>gAc	p.A66D	PRR16_ENST00000446965.1_Missense_Mutation_p.A19D|PRR16_ENST00000407149.2_Missense_Mutation_p.A89D|PRR16_ENST00000505123.1_Missense_Mutation_p.A19D	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	89										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GGCACAACAGCCTCCAGCCTA	0.527													42	75					2.66277e-13	3.0832e-13	1	0	A	120021755	C	A	120021755	3	1	6	1	0	0	0	0	1	0	0	0	12669	739	26	4	203	4	PRR16	5	120021755	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	1551955	120021755	60893505	43	1667											
NR3C1	2908	broad.mit.edu	37	chr5	142779539	142779539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgcttaattaccccaGgggtgcagagttcgatgaaa	10	12	10	9	1	1	2	0	1	1	1	3	3	1	2	2	2	3	3	2	2	3	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:142779539G>A	ENST00000343796.2	-	2	1859	c.866C>T	c.(865-867)cCt>cTt	p.P289L	NR3C1_ENST00000503201.1_Missense_Mutation_p.P289L|NR3C1_ENST00000504572.1_Missense_Mutation_p.P289L|NR3C1_ENST00000394464.2_Missense_Mutation_p.P289L|NR3C1_ENST00000415690.2_Missense_Mutation_p.P289L|NR3C1_ENST00000394466.2_Missense_Mutation_p.P289L|NR3C1_ENST00000424646.2_Missense_Mutation_p.P289L|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000231509.3_Missense_Mutation_p.P289L	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	289	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	AATTACCCCAGGGGTGCAGAG	0.398													7	331					0	0	0	0	A	142779539	G	A	142779539	3	1	6	1	0	0	0	0	1	0	0	0	10701	1000	35	4	1554	4	NR3C1	5	142779539	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	22757784	142779539	38135721	44	1668											
FAT2	2196	broad.mit.edu	37	chr5	150925174	150925174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcatggacatagacacaGaattggaaagagggcatgct	14	8	13	6	0	1	3	1	0	0	3	1	5	1	5	0	4	1	2	0	4	3	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:150925174G>T	ENST00000261800.5	-	9	5526	c.5514C>A	c.(5512-5514)ttC>ttA	p.F1838L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1838	Cadherin 16.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATAGACACAGAATTGGAAAG	0.463													27	135					1.39806e-14	1.65139e-14	1	0	T	150925174	G	T	150925174	3	4	6	1	0	0	0	0	1	0	0	0	5735	933	33	2	7595	2	FAT2	5	150925174	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	8145635	150925174	29990086	45	1669											
GABRP	2568	broad.mit.edu	37	chr5	170222219	170222219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccctcccaggactacaCagccaccatatacctccgac	10	6	4	21	1	0	0	0	0	0	0	3	2	3	1	7	1	3	0	7	1	3	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:170222219C>A	ENST00000518525.1	+	6	712	c.248C>A	c.(247-249)aCa>aAa	p.T83K	GABRP_ENST00000265294.4_Missense_Mutation_p.T83K|GABRP_ENST00000519385.1_Missense_Mutation_p.T83K|GABRP_ENST00000519598.1_Missense_Mutation_p.T83K			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	83						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGGACTACACAGCCACCATA	0.567													13	274					8.60227e-14	1.00933e-13	1	0	A	170222219	C	A	170222219	3	1	6	1	0	0	0	0	1	0	0	0	6222	478	17	4	262	4	GABRP	5	170222219	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	19297045	170222219	10693041	46	1670											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726458	25726458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgggcaatggtcacgcCgcccaaaagcttattgagtt	9	9	11	12	2	1	1	1	1	0	0	1	1	1	1	3	2	1	3	3	2	4	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:25726458C>T	ENST00000297012.3	-	1	332	c.298G>A	c.(298-300)Ggc>Agc	p.G100S		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	100					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						ATGGTCACGCCGCCCAAAAGC	0.532													123	207					0	0	0	0	T	25726458	C	T	25726458	3	4	6	1	0	0	0	0	1	0	0	0	7178	652	23	1	101	1	HIST1H2AA	6	25726458	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08		25726458	145388609	47	1671											
TRIM27	5987	broad.mit.edu	37	chr6	28872383	28872383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaactgtaccgcacttgccGcagattatcagagaggatca	12	9	10	10	2	2	2	2	0	0	2	2	4	2	3	2	1	3	4	2	1	3	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:28872383G>A	ENST00000377199.3	-	8	1362	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	TRIM27_ENST00000377194.3_Missense_Mutation_p.R336W	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	336	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CGCACTTGCCGCAGATTATCA	0.577			T	RET	papillary thyroid								9	53					0	0	0	0	A	28872383	G	A	28872383	3	1	6	1	0	0	0	0	1	0	0	0	16596	1086	38	1	539	1	TRIM27	6	28872383	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	3145925	28872383	142242684	48	1672											
TNXB	7148	broad.mit.edu	37	chr6	32038061	32038061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgtctttgtccttgaaCtggaccacaaaagagtcgaa	11	9	10	11	2	1	2	0	1	1	1	3	4	2	3	3	2	1	0	3	2	4	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:32038061C>A	ENST00000375244.3	-	14	5322	c.5121G>T	c.(5119-5121)caG>caT	p.Q1707H	TNXB_ENST00000375247.2_Missense_Mutation_p.Q1707H			P22105	TENX_HUMAN	tenascin XB	1789	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTCCTTGAACTGGACCACAA	0.637													10	23					0.000673444	0.000705513	1	0	A	32038061	C	A	32038061	3	1	6	1	0	0	0	0	1	0	0	0	16440	564	20	4	9716	4	TNXB	6	32038061	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	3165678	32038061	139077006	49	1673											
ATF6B	1388	broad.mit.edu	37	chr6	32093996	32093996	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtgccaaggactctgTcttcacatggagcacctccc	7	9	12	13	0	3	0	1	0	2	0	4	2	4	2	3	4	2	1	3	4	1	1			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:32093996T>A	ENST00000375201.4	-	5	412	c.367A>T	c.(367-369)Aca>Tca	p.T123S	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375203.3_Missense_Mutation_p.T126S			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	126					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AAGGACTCTGTCTTCACATGG	0.542													49	71					0	0	0	0	A	32093996	T	A	32093996	3	1	6	1	0	0	0	0	1	0	0	0	1089	1667	58	5	1791	5	ATF6B	6	32093996	Missense_Mutation	SNP	T	TCGA-BA-5149-01A-01D-1512-08	55935	32093996	139021071	50	1674											
C6orf165	154313	broad.mit.edu	37	chr6	88138453	88138453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccattcttgggtgctcAcgaactatactttcctgaga	9	13	8	11	1	3	1	2	1	1	1	4	3	4	1	2	1	4	1	2	1	3	5			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:88138453A>G	ENST00000507897.1	+	9	1153	c.1070A>G	c.(1069-1071)cAc>cGc	p.H357R	C6ORF165_ENST00000369562.4_Missense_Mutation_p.H357R			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	357										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTGGGTGCTCACGAACTATAC	0.408													85	134					0	0	0	0	G	88138453	A	G	88138453	3	3	6	1	0	0	0	0	1	0	0	0	2362	159	6	5	1100	5	C6orf165	6	88138453	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	56044457	88138453	82976614	51	1675											
SLC16A10	117247	broad.mit.edu	37	chr6	111498518	111498518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggacactatttcaagaagCgccttggactggtgaatggc	10	10	13	8	1	1	2	1	1	0	1	1	4	1	4	1	4	1	0	1	4	4	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:111498518C>T	ENST00000368851.5	+	3	767	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	198					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TTTCAAGAAGCGCCTTGGACT	0.498													38	107					0	0	0	0	T	111498518	C	T	111498518	3	4	6	1	0	0	0	0	1	0	0	0	14491	768	27	1	602	1	SLC16A10	6	111498518	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	23360065	111498518	59616549	52	1676											
ARID1B	57492	broad.mit.edu	37	chr6	157528336	157528336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactgcctcgaggtcttgAgggataacacgttggtcacg	8	9	15	9	3	2	1	1	1	1	0	3	4	2	3	1	4	2	1	1	4	1	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:157528336A>G	ENST00000346085.5	+	20	6062	c.6061A>G	c.(6061-6063)Agg>Ggg	p.R2021G	ARID1B_ENST00000367148.1_Missense_Mutation_p.R2061G|ARID1B_ENST00000350026.5_Missense_Mutation_p.R2008G|ARID1B_ENST00000275248.4_Missense_Mutation_p.R2003G	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2008					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGAGGTCTTGAGGGATAACAC	0.542													3	126					0	0	0	0	G	157528336	A	G	157528336	3	3	6	1	0	0	0	0	1	0	0	0	916	295	11	5	6139	5	ARID1B	6	157528336	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	46029818	157528336	13586731	53	1677											
FAM120B	84498	broad.mit.edu	37	chr6	170626814	170626814	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaagaacaacagggagatAtccaggatttttcattacat	15	11	7	8	0	2	2	2	0	0	2	3	4	3	3	1	2	3	0	1	2	5	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:170626814A>G	ENST00000476287.1	+	2	444	c.336A>G	c.(334-336)atA>atG	p.I112M	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.I124M|FAM120B_ENST00000537664.1_Missense_Mutation_p.I135M	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	112					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ACAGGGAGATATCCAGGATTT	0.453													40	114					0	0	0	0	G	170626814	A	G	170626814	3	3	6	1	0	0	0	0	1	0	0	0	5458	439	16	5	338	5	FAM120B	6	170626814	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	13098478	170626814	488253	54	1678											
SDK1	221935	broad.mit.edu	37	chr7	4051785	4051785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatatagtggccagtgggCggactaatcagtccattatg	13	10	11	7	1	1	0	1	0	0	0	2	1	2	1	2	3	0	0	2	3	6	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:4051785C>T	ENST00000404826.2	+	16	2477	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	SDK1_ENST00000389531.3_Missense_Mutation_p.R780W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	780	Fibronectin type-III 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCCAGTGGGCGGACTAATCA	0.512													6	318					0	0	0	0	T	4051785	C	T	4051785	3	4	6	1	0	0	0	0	1	0	0	0	14055	759	27	1	2400	1	SDK1	7	4051785	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08		4051785	155086878	55	1679											
THSD7A	221981	broad.mit.edu	37	chr7	11418786	11418786	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcccgactggttttcAcatctcctcttttgtcctcc	5	15	6	15	1	3	0	1	0	2	0	6	1	5	0	4	1	2	2	4	1	1	5			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:11418786A>G	ENST00000423059.3	-	26	4963	c.4712T>C	c.(4711-4713)gTg>gCg	p.V1571A	AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000595972.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1571						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACTGGTTTTCACATCTCCTCT	0.522										HNSCC(18;0.044)			24	152					0	0	0	0	G	11418786	A	G	11418786	3	3	6	1	0	0	0	0	1	0	0	0	15973	159	6	5	273	5	THSD7A	7	11418786	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	7367001	11418786	147719877	56	1680											
EPDR1	54749	broad.mit.edu	37	chr7	37989814	37989814	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttatagatgaaacctggaTtggcatctatacagtcaagg	13	12	9	7	0	3	2	1	1	2	1	3	3	3	3	1	3	2	1	1	3	6	5			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:37989814T>A	ENST00000199448.4	+	3	870	c.491T>A	c.(490-492)aTt>aAt	p.I164N	EPDR1_ENST00000423717.1_3'UTR|EPDR1_ENST00000425345.1_Missense_Mutation_p.I103N|EPDR1_ENST00000559325.1_Missense_Mutation_p.I284N|EPDR1_ENST00000476620.1_Missense_Mutation_p.I62N	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	164					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GAAACCTGGATTGGCATCTAT	0.358													11	109					0	0	0	0	A	37989814	T	A	37989814	3	1	6	1	0	0	0	0	1	0	0	0	5201	1493	52	5	861	5	EPDR1	7	37989814	Missense_Mutation	SNP	T	TCGA-BA-5149-01A-01D-1512-08	26571028	37989814	121148849	57	1681											
OGDH	4967	broad.mit.edu	37	chr7	44715617	44715617	+	Frame_Shift_Del	DEL	A	A	-																															gcatgtatcaccgcaggatcAatcgtgtcaccgacaggaac																										TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:44715617delA	ENST00000222673.5	+	9	1117	c.1075delA	c.(1075-1077)atfs	p.N359fs	OGDH_ENST00000543843.1_Frame_Shift_Del_p.N310fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.N355fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.N370fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.N374fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.N359fs|OGDH_ENST00000439616.2_Frame_Shift_Del_p.N209fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	359					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCGCAGGATCAATCGTGTCAC	0.562													78	216	---	---	---	---					-	44715617	A	-	44715617	7	5	6	1	0	1	0	1	0	0	0	0	10910	130	5	0	1200	0	OGDH	7	44715617	Frame_Shift_Del	DEL	A	TCGA-BA-5149-01A-01D-1512-08	6725803	44715617	114423046	58	1682											
ADCY1	107	broad.mit.edu	37	chr7	45750144	45750144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcatcaatgttggccctGtggtggctggagtgattggc	6	12	16	7	0	1	1	1	1	0	0	1	2	1	2	1	6	0	3	1	6	2	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:45750144G>T	ENST00000297323.7	+	19	2972	c.2950G>T	c.(2950-2952)Gtg>Ttg	p.V984L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	984			V -> M (in dbSNP:rs2293106).		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGTTGGCCCTGTGGTGGCTGG	0.582													18	101					1.10923e-09	1.24347e-09	1	0	T	45750144	G	T	45750144	3	4	6	1	0	0	0	0	1	0	0	0	292	1377	48	4	3024	4	ADCY1	7	45750144	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	1034527	45750144	113388519	59	1683											
IGFBP3	3486	broad.mit.edu	37	chr7	45956911	45956911	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctgtctttagcatgcccTttcttgatgatgattatctt	6	19	8	8	0	3	3	0	3	3	0	3	3	3	3	1	1	2	2	1	1	2	6			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:45956911T>C	ENST00000275521.6	-	2	664	c.531A>G	c.(529-531)aaA>aaG	p.K177K	IGFBP3_ENST00000381083.4_Silent_p.K183K|IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381086.5_Silent_p.K80K	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	177					negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TAGCATGCCCTTTCTTGATGA	0.547											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	116	162					0	0	0	0	C	45956911	T	C	45956911	2	2	6	1	0	0	0	0	0	0	0	1	7633	1606	56	5		5	IGFBP3	7	45956911	Silent	SNP	T	TCGA-BA-5149-01A-01D-1512-08	206767	45956911	113181752	60	1684											
PCLO	27445	broad.mit.edu	37	chr7	82764455	82764455	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgttggtggaaaactcTgtgagggtttggcagagtct	7	12	14	8	0	2	2	0	1	2	1	2	3	2	3	2	4	1	3	2	4	2	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:82764455T>G	ENST00000423517.2	-	3	2748	c.2411A>C	c.(2410-2412)cAg>cCg	p.Q804P	PCLO_ENST00000333891.8_Missense_Mutation_p.Q804P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	750	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGAAAACTCTGTGAGGGTTT	0.433													80	185					0	0	0	0	G	82764455	T	G	82764455	3	3	6	1	0	0	0	0	1	0	0	0	11654	1580	55	5	13126	5	PCLO	7	82764455	Missense_Mutation	SNP	T	TCGA-BA-5149-01A-01D-1512-08	36807544	82764455	76374208	61	1685											
GRM3	2913	broad.mit.edu	37	chr7	86415678	86415678	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgattactttgccaggacCgtgccccccgacttctacca	8	11	7	15	2	1	1	0	1	1	0	1	3	1	2	6	1	4	0	6	1	3	5			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:86415678C>T	ENST00000361669.2	+	3	1669	c.570C>T	c.(568-570)acC>acT	p.T190T	AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Silent_p.T62T|GRM3_ENST00000394720.2_Silent_p.T188T|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.T190T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	190					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTGCCAGGACCGTGCCCCCCG	0.567													41	153					0	0	0	0	T	86415678	C	T	86415678	2	4	6	1	0	0	0	0	0	0	0	1	6848	639	23	1		1	GRM3	7	86415678	Silent	SNP	C	TCGA-BA-5149-01A-01D-1512-08	3651223	86415678	72722985	62	1686											
RELN	5649	broad.mit.edu	37	chr7	103252122	103252122	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttcacctggttgtccAtgtgtggggtgtatttctgg	4	15	13	9	0	2	0	1	0	1	0	3	0	3	0	3	4	1	3	3	4	1	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:103252122A>T	ENST00000428762.1	-	21	2990	c.2831T>A	c.(2830-2832)aTg>aAg	p.M944K	RELN_ENST00000343529.5_Missense_Mutation_p.M944K|RELN_ENST00000424685.2_Missense_Mutation_p.M944K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	944					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGGTTGTCCATGTGTGGGGT	0.463													32	46					0	0	0	0	T	103252122	A	T	103252122	3	4	6	1	0	0	0	0	1	0	0	0	13302	217	8	5	7731	5	RELN	7	103252122	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	16836444	103252122	55886541	63	1687											
GPR22	2845	broad.mit.edu	37	chr7	107115239	107115239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatattcgaataggcacaaGattttcaacagggcagaaga	17	9	9	6	1	1	3	1	0	0	3	2	4	1	3	0	2	1	2	0	2	7	6			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:107115239G>A	ENST00000304402.4	+	3	2077	c.734G>A	c.(733-735)aGa>aAa	p.R245K	COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000393603.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	245						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						ATAGGCACAAGATTTTCAACA	0.378													14	52					0	0	0	0	A	107115239	G	A	107115239	3	1	6	1	0	0	0	0	1	0	0	0	6731	942	33	2	736	2	GPR22	7	107115239	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	3863117	107115239	52023424	64	1688											
NOM1	64434	broad.mit.edu	37	chr7	156755792	156755792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgggtcgctggtggattGtggggtccgcctggagtggg	4	9	21	7	3	0	1	0	0	0	1	2	3	1	3	2	7	0	1	2	7	0	1			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:156755792G>T	ENST00000275820.3	+	6	1849	c.1834G>T	c.(1834-1836)Gtg>Ttg	p.V612L		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	612					RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTGGTGGATTGTGGGGTCCGC	0.622													17	46					6.94344e-10	7.83363e-10	1	0	T	156755792	G	T	156755792	3	4	6	1	0	0	0	0	1	0	0	0	10600	1377	48	4	1856	4	NOM1	7	156755792	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	49640553	156755792	2382871	65	1689											
DOCK5	80005	broad.mit.edu	37	chr8	25166333	25166333	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctacatccgccagaggcagCtcatcatgtcgcctttgata	9	10	8	14	2	2	2	2	1	0	1	4	2	3	2	4	1	2	2	4	1	2	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:25166333C>G	ENST00000276440.7	+	12	1128	c.1084C>G	c.(1084-1086)Ctc>Gtc	p.L362V		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	362						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCAGAGGCAGCTCATCATGTC	0.468													27	26					0	0	0	0	G	25166333	C	G	25166333	3	3	6	1	0	0	0	0	1	0	0	0	4726	797	28	4	1130	4	DOCK5	8	25166333	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08		25166333	121197689	66	1690											
SLCO5A1	81796	broad.mit.edu	37	chr8	70591756	70591756	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgttctcattgagataagtCttgacaataaccacacggag	13	10	8	10	2	2	2	1	2	2	1	3	4	2	3	2	1	1	1	2	1	3	5			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:70591756C>G	ENST00000260126.3	-	8	2587	c.1881G>C	c.(1879-1881)aaG>aaC	p.K627N	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K572N|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K627N	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	627						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGAGATAAGTCTTGACAATAA	0.448													47	229					0	0	0	0	G	70591756	C	G	70591756	3	3	6	1	0	0	0	0	1	0	0	0	14819	912	32	2	677	2	SLCO5A1	8	70591756	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	45425423	70591756	75772266	67	1691											
KCNB2	9312	broad.mit.edu	37	chr8	73480489	73480489	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgataatacctgctgccctGataaaaggaagaaactgtgg	14	10	10	7	0	0	3	0	2	0	1	0	4	0	4	2	2	4	1	2	2	6	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:73480489G>C	ENST00000523207.1	+	2	1108	c.520G>C	c.(520-522)Gat>Cat	p.D174H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	174					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGCTGCCCTGATAAAAGGAA	0.438													37	212					0	0	0	0	C	73480489	G	C	73480489	3	2	6	1	0	0	0	0	1	0	0	0	8066	1290	45	2	522	2	KCNB2	8	73480489	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	2888733	73480489	72883533	68	1692											
FABP5	2171	broad.mit.edu	37	chr8	82195651	82195651	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatggccaagccagattgtAtcatcacttgtgatggtaaa	13	11	9	8	0	2	2	2	1	0	1	2	2	2	2	2	2	1	2	2	2	5	4	rs145774881		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:82195651A>G	ENST00000396359.1	+	2	498	c.28A>G	c.(28-30)Atc>Gtc	p.I10V	FABP5_ENST00000297258.6_Missense_Mutation_p.I44V			Q01469	FABP5_HUMAN	fatty acid binding protein 5 (psoriasis-associated)	44					epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity			large_intestine(1)|lung(3)	4	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)			GCCAGATTGTATCATCACTTG	0.393													9	93					0	0	0	0	G	82195651	A	G	82195651	3	3	6	1	0	0	0	0	1	0	0	0	5401	449	16	5	136	5	FABP5	8	82195651	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	8715162	82195651	64168371	69	1693											
KCNS2	3788	broad.mit.edu	37	chr8	99440425	99440425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggagttctacttcgaccGcaaccctgagctcttcccct	6	10	9	16	3	2	1	0	1	2	0	4	3	3	2	4	1	3	3	4	1	2	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:99440425G>A	ENST00000287042.4	+	2	568	c.218G>A	c.(217-219)cGc>cAc	p.R73H	KCNS2_ENST00000521839.1_Missense_Mutation_p.R73H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	73						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R73H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TACTTCGACCGCAACCCTGAG	0.597													5	249					0	0	0	0	A	99440425	G	A	99440425	3	1	6	1	0	0	0	0	1	0	0	0	8142	1087	38	1	220	1	KCNS2	8	99440425	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	17244774	99440425	46923597	70	1694											
MTSS1	9788	broad.mit.edu	37	chr8	125577991	125577991	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtaatcagaacctttcaagtCcagaatcacctaaggggaca	15	8	8	10	0	3	2	3	0	0	2	4	3	4	3	3	2	1	1	3	2	5	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:125577991C>G	ENST00000518547.1	-	9	1209	c.736G>C	c.(736-738)Gac>Cac	p.D246H	NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Missense_Mutation_p.D246H|MTSS1_ENST00000431961.2_Missense_Mutation_p.D46H|MTSS1_ENST00000354184.4_Missense_Mutation_p.D46H|MTSS1_ENST00000325064.5_Missense_Mutation_p.D250H|MTSS1_ENST00000524090.1_Missense_Mutation_p.D136H	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	246	IMD.|Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCTTTCAAGTCCAGAATCACC	0.527													55	50					0	0	0	0	G	125577991	C	G	125577991	3	3	6	1	0	0	0	0	1	0	0	0	10032	855	30	2	1555	2	MTSS1	8	125577991	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	26137566	125577991	20786031	71	1695											
CYP11B2	1585	broad.mit.edu	37	chr8	143996592	143996592	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaccatcgggaggaacctCtgcacggccttgggcgacag	8	6	13	14	3	1	0	0	0	1	0	3	3	2	2	4	4	2	1	4	4	1	1			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:143996592C>G	ENST00000323110.2	-	3	467	c.465G>C	c.(463-465)caG>caC	p.Q155H		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	155					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGAGGAACCTCTGCACGGCCT	0.637									Familial Hyperaldosteronism type I				10	59					0	0	0	0	G	143996592	C	G	143996592	3	3	6	1	0	0	0	0	1	0	0	0	4178	912	32	2	1074	2	CYP11B2	8	143996592	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	18418601	143996592	2367430	72	1696											
TMEM38B	55151	broad.mit.edu	37	chr9	108483954	108483954	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtcacacatgctaatagcTattacaaaaatggctggata	16	10	8	7	0	1	0	1	0	0	0	1	2	1	1	0	2	3	3	0	2	7	5			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr9:108483954T>A	ENST00000374688.1	+	3	954	c.244T>A	c.(244-246)Tat>Aat	p.Y82N	TMEM38B_ENST00000374692.3_Missense_Mutation_p.Y136N			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	136						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TGCTAATAGCTATTACAAAAA	0.388													75	44					0	0	0	0	A	108483954	T	A	108483954	3	1	6	1	0	0	0	0	1	0	0	0	16254	1522	53	5	416	5	TMEM38B	9	108483954	Missense_Mutation	SNP	T	TCGA-BA-5149-01A-01D-1512-08		108483954	32729477	73	1697											
NOTCH1	4851	broad.mit.edu	37	chr9	139411734	139411740	+	Frame_Shift_Del	DEL	CTCGCAC	CTCGCAC	-																															tggccctcacccgtggggcaCtcgcactggaactcattgat																										TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr9:139411734_139411740delCTCGCAC	ENST00000277541.6	-	9	1614_1620	c.1539_1545delGTGCGAG	c.(1537-1545)cafs	p.QCE513fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	513	EGF-like 13; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCGTGGGGCACTCGCACTGGAACTCAT	0.691			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			12	12	---	---	---	---					-	139411740	CTCGCAC	-	139411734	7	5	6	1	0	1	0	1	0	0	0	0	10617	564	20	0	6226	0	NOTCH1	9	139411734	Frame_Shift_Del	DEL	CTCGCAC	TCGA-BA-5149-01A-01D-1512-08	30927780	139411734	1801697	74	1698											
CACNA1B	774	broad.mit.edu	37	chr9	140919617	140919617	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcttggggaagccacggtCgttcccagtgagtatctccc	6	10	11	14	2	2	1	0	1	2	0	5	2	3	2	4	3	1	2	4	3	2	3	rs147270326	by1000genomes	TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr9:140919617C>T	ENST00000277549.5	+	20	3424	c.855C>T	c.(853-855)gtC>gtT	p.V285V	CACNA1B_ENST00000371363.1_Silent_p.V1093V|CACNA1B_ENST00000371372.1_Silent_p.V1093V|CACNA1B_ENST00000545473.1_Silent_p.V77V|CACNA1B_ENST00000277551.2_Silent_p.V1093V|CACNA1B_ENST00000371367.5_Silent_p.V77V|CACNA1B_ENST00000371355.4_Silent_p.V1094V|CACNA1B_ENST00000371357.1_Silent_p.V1094V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1093					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AAGCCACGGTCGTTCCCAGTG	0.617													28	13					0	0	0	0	T	140919617	C	T	140919617	2	4	6	1	0	0	0	0	0	0	0	1	2564	871	31	1		1	CACNA1B	9	140919617	Silent	SNP	C	TCGA-BA-5149-01A-01D-1512-08	1507883	140919617	293814	75	1699											
SVIL	6840	broad.mit.edu	37	chr10	29821795	29821795	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgggctggtgcggagcttGagggggttgtgccacgtttt	4	12	19	6	2	0	1	0	1	0	0	0	2	0	2	1	5	3	4	1	5	0	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:29821795G>C	ENST00000375398.2	-	10	1950	c.1501C>G	c.(1501-1503)Caa>Gaa	p.Q501E	SVIL_ENST00000355867.4_Missense_Mutation_p.Q501E|SVIL_ENST00000375400.3_Intron			O95425	SVIL_HUMAN	supervillin	501					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCGGAGCTTGAGGGGGTTGT	0.532													29	121					0	0	0	0	C	29821795	G	C	29821795	3	2	6	1	0	0	0	0	1	0	0	0	15511	1299	45	2	5267	2	SVIL	10	29821795	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08		29821795	105712952	76	1700											
NRG3	10718	broad.mit.edu	37	chr10	83635638	83635638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catccgggccagcccgcgctCcaccacagcacggaacactg	9	3	10	19	4	0	0	0	0	0	0	2	1	2	1	5	2	3	2	5	2	1	0			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:83635638C>A	ENST00000404547.1	+	1	542	c.542C>A	c.(541-543)tCc>tAc	p.S181Y	NRG3_ENST00000372141.2_Missense_Mutation_p.S181Y			P56975	NRG3_HUMAN	neuregulin 3	181	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGCCCGCGCTCCACCACAGCA	0.721													10	34					3.86212e-05	4.17014e-05	1	0	A	83635638	C	A	83635638	3	1	6	1	0	0	0	0	1	0	0	0	10720	855	30	2	544	2	NRG3	10	83635638	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	53813843	83635638	51899109	77	1701											
MYOF	26509	broad.mit.edu	37	chr10	95111312	95111312	+	Nonsense_Mutation	SNP	A	A	T																															gagagaaaatgcttcgtcctAaaaattcatctttgccctag																										TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:95111312A>T	ENST00000371501.4	-	34	3802	c.3680T>A	c.(3679-3681)tTa>tAa	p.L1227*	MYOF_ENST00000371502.4_Nonsense_Mutation_p.L1227*|MYOF_ENST00000358334.5_Nonsense_Mutation_p.L1214*|MYOF_ENST00000359263.4_Nonsense_Mutation_p.L1227*			Q9NZM1	MYOF_HUMAN	myoferlin	1227	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCTTCGTCCTAAAAATTCATC	0.413													41	148					0	0	0	0	T	95111312	A	T	95111312	4	4	6	1	0	0	0	0	0	1	0	0	10159	372	13	5	2589	5	MYOF	10	95111312	Nonsense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	11475674	95111312	40423435	78	1702	26	2									
MYOF	26509	broad.mit.edu	37	chr10	95111315	95111315	+	Missense_Mutation	SNP	A	A	T																															agaaaatgcttcgtcctaaaAattcatctttgccctagaga																										TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:95111315A>T	ENST00000371501.4	-	34	3799	c.3677T>A	c.(3676-3678)tTt>tAt	p.F1226Y	MYOF_ENST00000371502.4_Missense_Mutation_p.F1226Y|MYOF_ENST00000358334.5_Missense_Mutation_p.F1213Y|MYOF_ENST00000359263.4_Missense_Mutation_p.F1226Y			Q9NZM1	MYOF_HUMAN	myoferlin	1226	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCGTCCTAAAAATTCATCTTT	0.413													40	152					0	0	0	0	T	95111315	A	T	95111315	3	4	6	1	0	0	0	0	1	0	0	0	10159	14	1	5	2592	5	MYOF	10	95111315	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	3	95111315	40423432	79	1703	26	2									
COX15	1355	broad.mit.edu	37	chr10	101480789	101480789	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctgctgttccatgagcaaAtcgtctcaactgtaggagtt	10	12	9	10	1	1	1	1	1	1	0	4	2	2	2	2	1	3	5	2	1	3	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:101480789A>G	ENST00000370483.5	-	6	837	c.787T>C	c.(787-789)Ttt>Ctt	p.F263L	COX15_ENST00000016171.5_Missense_Mutation_p.F263L|CUTC_ENST00000493385.1_Intron	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	263					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		CCATGAGCAAATCGTCTCAAC	0.453													9	41					0	0	0	0	G	101480789	A	G	101480789	3	3	6	1	0	0	0	0	1	0	0	0	3794	101	4	5	531	5	COX15	10	101480789	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	6369474	101480789	34053958	80	1704											
FAM160B1	57700	broad.mit.edu	37	chr10	116605950	116605950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagttctgagatgggtattCtcacatccactgctctgctt	7	15	8	11	0	4	1	2	1	3	1	6	2	5	1	1	1	2	4	1	1	1	4	rs17853717		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:116605950C>T	ENST00000369248.4	+	10	1557	c.1222C>T	c.(1222-1224)Ctc>Ttc	p.L408F	FAM160B1_ENST00000369250.3_Missense_Mutation_p.L408F	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	408			L -> I (in dbSNP:rs17853717).							NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GATGGGTATTCTCACATCCAC	0.433													7	420					0	0	0	0	T	116605950	C	T	116605950	3	4	6	1	0	0	0	0	1	0	0	0	5511	913	32	2	1260	2	FAM160B1	10	116605950	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	15125161	116605950	18928797	81	1705											
ATRNL1	26033	broad.mit.edu	37	chr10	117061476	117061476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtgcagcagtacgaaacGatgtgttgactctaatgcct	10	11	12	8	2	1	1	0	1	1	0	1	3	1	1	1	1	5	4	1	1	3	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:117061476G>A	ENST00000355044.3	+	17	2867	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q	ATRNL1_ENST00000423111.2_Missense_Mutation_p.R11Q	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	914	PSI 4.					integral to membrane	sugar binding	p.R914Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGTACGAAACGATGTGTTGAC	0.453													29	163					0	0	0	0	A	117061476	G	A	117061476	3	1	6	1	0	0	0	0	1	0	0	0	1211	1058	37	1	2807	1	ATRNL1	10	117061476	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	455526	117061476	18473271	82	1706											
ADAM8	101	broad.mit.edu	37	chr10	135083954	135083954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcacacatccacgatgcaGatggcacgccccaggggctg	9	5	13	14	2	0	1	0	0	0	1	1	2	1	1	3	4	1	4	3	4	0	0			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:135083954G>C	ENST00000445355.3	-	16	1745	c.1695C>G	c.(1693-1695)atC>atG	p.I565M	ADAM8_ENST00000485491.2_Missense_Mutation_p.I526M|ADAM8_ENST00000415217.3_Missense_Mutation_p.I565M	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	526					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CCACGATGCAGATGGCACGCC	0.652													19	65					0	0	0	0	C	135083954	G	C	135083954	3	2	6	1	0	0	0	0	1	0	0	0	252	932	33	2	729	2	ADAM8	10	135083954	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	18022478	135083954	450793	83	1707											
EPS8L2	64787	broad.mit.edu	37	chr11	720157	720157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagctccaaggagaagatCtggacccaggagatgctgct	11	7	13	10	0	1	4	0	1	1	3	2	7	2	5	2	3	3	3	2	3	2	0			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:720157C>G	ENST00000533256.1	+	6	636	c.261C>G	c.(259-261)atC>atG	p.I87M	EPS8L2_ENST00000526198.1_Missense_Mutation_p.I87M|EPS8L2_ENST00000318562.8_Missense_Mutation_p.I87M|EPS8L2_ENST00000530636.1_Missense_Mutation_p.I87M|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	87	PID.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAGAAGATCTGGACCCAGG	0.627													9	38					0	0	0	0	G	720157	C	G	720157	3	3	6	1	0	0	0	0	1	0	0	0	5234	903	32	2	275	2	EPS8L2	11	720157	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08		720157	134286359	84	1708											
RHOG	391	broad.mit.edu	37	chr11	3848803	3848803	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccagggtcacaagaggAtgcaggaccgcccacgcttg	10	5	14	12	2	1	1	1	0	0	1	1	3	1	3	3	3	2	2	3	3	1	1			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:3848803A>C	ENST00000351018.4	-	2	723	c.566T>G	c.(565-567)aTc>aGc	p.I189S	RHOG_ENST00000533217.1_Missense_Mutation_p.I189S|RHOG_ENST00000396978.1_Missense_Mutation_p.I189S|RHOG_ENST00000396979.1_Missense_Mutation_p.I189S	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	189					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		TCACAAGAGGATGCAGGACCG	0.627													7	30					0	0	0	0	C	3848803	A	C	3848803	3	2	6	1	0	0	0	0	1	0	0	0	13422	333	12	5	13	5	RHOG	11	3848803	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	3128646	3848803	131157713	85	1709											
FAM111B	374393	broad.mit.edu	37	chr11	58892771	58892771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatgaagccataatgcatCagtatccgaattttaaagag	16	11	8	6	1	1	3	1	2	0	1	2	4	2	3	2	0	2	2	2	0	7	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:58892771C>G	ENST00000343597.3	+	4	1392	c.1201C>G	c.(1201-1203)Cag>Gag	p.Q401E	FAM111B_ENST00000529618.1_Missense_Mutation_p.Q371E|FAM111B_ENST00000411426.1_Missense_Mutation_p.Q371E	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	401							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CATAATGCATCAGTATCCGAA	0.378													48	113					0	0	0	0	G	58892771	C	G	58892771	3	3	6	1	0	0	0	0	1	0	0	0	5441	827	29	2	1207	2	FAM111B	11	58892771	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	55043968	58892771	76113745	86	1710											
DAGLA	747	broad.mit.edu	37	chr11	61503242	61503242	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgacgggtgatgctgAgcgcctccccgtggaggggc	5	7	17	12	3	0	4	0	4	0	0	1	5	1	5	4	4	2	1	4	4	0	0			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:61503242A>T	ENST00000257215.5	+	12	1360	c.1244A>T	c.(1243-1245)gAg>gTg	p.E415V		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	415					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTGATGCTGAGCGCCTCCCC	0.672													6	13					0	0	0	0	T	61503242	A	T	61503242	3	4	6	1	0	0	0	0	1	0	0	0	4259	304	11	5	1286	5	DAGLA	11	61503242	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	2610471	61503242	73503274	87	1711											
FAT3	120114	broad.mit.edu	37	chr11	92531604	92531604	+	Missense_Mutation	SNP	G	G	A																															atgctgacagcaaccggaatGctctgcttgtgtatcagatt																										TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:92531604G>A	ENST00000298047.6	+	9	5442	c.5425G>A	c.(5425-5427)Gct>Act	p.A1809T	FAT3_ENST00000525166.1_Missense_Mutation_p.A1659T|FAT3_ENST00000409404.2_Missense_Mutation_p.A1809T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1809	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAACCGGAATGCTCTGCTTGT	0.488										TCGA Ovarian(4;0.039)			5	20					0	0	0	0	A	92531604	G	A	92531604	3	1	6	1	0	0	0	0	1	0	0	0	5736	1319	46	4	5459	4	FAT3	11	92531604	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	31028362	92531604	42474912	88	1712	27	2									
FAT3	120114	broad.mit.edu	37	chr11	92531605	92531605	+	Missense_Mutation	SNP	C	C	A																															tgctgacagcaaccggaatgCtctgcttgtgtatcagattg																										TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:92531605C>A	ENST00000298047.6	+	9	5443	c.5426C>A	c.(5425-5427)gCt>gAt	p.A1809D	FAT3_ENST00000525166.1_Missense_Mutation_p.A1659D|FAT3_ENST00000409404.2_Missense_Mutation_p.A1809D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1809	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACCGGAATGCTCTGCTTGTG	0.488										TCGA Ovarian(4;0.039)			5	20					2.0095e-06	2.22435e-06	1	0	A	92531605	C	A	92531605	3	1	6	1	0	0	0	0	1	0	0	0	5736	797	28	4	5460	4	FAT3	11	92531605	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	1	92531605	42474911	89	1713	27	2									
A2M	2	broad.mit.edu	37	chr12	9222346	9222346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagttctcttaccttatCaaggtaaatcaagacatggt	13	13	8	7	0	3	1	2	0	1	1	4	2	3	2	1	3	1	2	1	3	7	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:9222346C>T	ENST00000318602.7	-	33	4565	c.4258G>A	c.(4258-4260)Gat>Aat	p.D1420N		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1420					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTTACCTTATCAAGGTAAATC	0.353													40	160					0	0	0	0	T	9222346	C	T	9222346	3	4	6	1	0	0	0	0	1	0	0	0	4	826	29	2	182	2	A2M	12	9222346	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08		9222346	124629549	90	1714											
ADCY6	112	broad.mit.edu	37	chr12	49176910	49176910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgggcgccacctcagccGtcccgcccgctgtcgttgtc	2	8	12	19	7	1	0	1	0	0	0	5	0	2	0	5	1	1	2	5	1	0	1			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:49176910G>A	ENST00000307885.4	-	1	1002	c.308C>T	c.(307-309)aCg>aTg	p.T103M	ADCY6_ENST00000357869.3_Missense_Mutation_p.T103M|ADCY6_ENST00000550422.1_Missense_Mutation_p.T103M	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	103					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CACCTCAGCCGTCCCGCCCGC	0.697													16	59					0	0	0	0	A	49176910	G	A	49176910	3	1	6	1	0	0	0	0	1	0	0	0	298	1145	40	1	3282	1	ADCY6	12	49176910	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	39954564	49176910	84674985	91	1715											
MYF5	4617	broad.mit.edu	37	chr12	81111152	81111152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaggtcaaccaggctttcGaaaccctcaagaggtgtacc	13	7	10	11	1	2	2	2	0	0	2	3	3	2	2	3	3	3	2	3	3	5	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:81111152G>A	ENST00000228644.3	+	1	462	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	104	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E104K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCAGGCTTTCGAAACCCTCAA	0.597													25	77					0	0	0	0	A	81111152	G	A	81111152	3	1	6	1	0	0	0	0	1	0	0	0	10097	1059	37	1	312	1	MYF5	12	81111152	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	31934242	81111152	52740743	92	1716											
PPFIA2	8499	broad.mit.edu	37	chr12	81693145	81693145	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatccctttctccgagcttCttcaagaagttcatgcctga	9	14	6	12	1	4	2	2	1	2	1	6	3	5	2	3	0	2	2	3	0	3	5			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:81693145C>A	ENST00000550584.2	-	22	2954	c.2659G>T	c.(2659-2661)Gaa>Taa	p.E887*	PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.E454*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E788*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E734*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E872*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E887*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E872*|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.E887*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.E104*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E887*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E813*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	813										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTCCGAGCTTCTTCAAGAAGT	0.383													3	13					0.004672	0.00480861	1	0	A	81693145	C	A	81693145	4	1	6	1	0	0	0	0	0	1	0	0	12381	922	32	2	1154	2	PPFIA2	12	81693145	Nonsense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	581993	81693145	52158750	93	1717											
ATP2B1	490	broad.mit.edu	37	chr12	89995159	89995159	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaccatagccactgttctaTtgaaagttctgaacaactga	13	12	7	9	0	2	4	0	4	2	0	2	4	2	4	2	0	3	2	2	0	5	5			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:89995159T>A	ENST00000428670.3	-	19	3568	c.3112A>T	c.(3112-3114)Ata>Tta	p.I1038L	ATP2B1_ENST00000261173.2_Missense_Mutation_p.I1038L|ATP2B1_ENST00000393164.2_Missense_Mutation_p.I781L|ATP2B1_ENST00000359142.3_Missense_Mutation_p.I1038L|ATP2B1_ENST00000348959.3_Intron			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1038					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CACTGTTCTATTGAAAGTTCT	0.308													60	196					0	0	0	0	A	89995159	T	A	89995159	3	1	6	1	0	0	0	0	1	0	0	0	1143	1493	52	5	720	5	ATP2B1	12	89995159	Missense_Mutation	SNP	T	TCGA-BA-5149-01A-01D-1512-08	8302014	89995159	43856736	94	1718											
PRKAB1	5564	broad.mit.edu	37	chr12	120111774	120111774	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttttccttgcagccacaAtaactttgtagccatcctgg	8	14	6	13	0	0	0	0	0	0	0	2	0	2	0	5	1	4	2	5	1	3	6			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:120111774A>G	ENST00000229328.5	+	3	821	c.329A>G	c.(328-330)aAt>aGt	p.N110S	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Missense_Mutation_p.N110S	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	110					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TGCAGCCACAATAACTTTGTA	0.522													33	113					0	0	0	0	G	120111774	A	G	120111774	3	3	6	1	0	0	0	0	1	0	0	0	12575	101	4	5	339	5	PRKAB1	12	120111774	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	30116615	120111774	13740121	95	1719											
CAMKK2	10645	broad.mit.edu	37	chr12	121686456	121686456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactgagttctcgacctcctCttcagtcacttcgaccagcg	7	11	8	15	3	4	1	2	1	2	0	7	4	5	1	3	0	1	1	3	0	0	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:121686456C>G	ENST00000324774.5	-	14	2233	c.1405G>C	c.(1405-1407)Gag>Cag	p.E469Q	CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000412367.2_Missense_Mutation_p.E469Q|CAMKK2_ENST00000392473.2_Missense_Mutation_p.E469Q|CAMKK2_ENST00000392474.2_Missense_Mutation_p.E469Q|CAMKK2_ENST00000402834.4_Missense_Mutation_p.E469Q|CAMKK2_ENST00000545538.1_Missense_Mutation_p.E256Q|CAMKK2_ENST00000446440.2_Intron|CAMKK2_ENST00000404169.3_Missense_Mutation_p.E469Q|CAMKK2_ENST00000337174.3_Missense_Mutation_p.E469Q|CAMKK2_ENST00000347034.2_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	469					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCGACCTCCTCTTCAGTCACT	0.612													34	204					0	0	0	0	G	121686456	C	G	121686456	3	3	6	1	0	0	0	0	1	0	0	0	2632	922	32	2	387	2	CAMKK2	12	121686456	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	1574682	121686456	12165439	96	1720											
MTUS2	23281	broad.mit.edu	37	chr13	29599467	29599467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcacggggtcagatacctgGgggtggggaggggccacaga	9	4	20	8	1	1	2	1	0	0	2	1	3	1	3	2	8	2	1	2	8	1	1			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr13:29599467G>T	ENST00000431530.3	+	1	720	c.662G>T	c.(661-663)gGg>gTg	p.G221V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	211						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGATACCTGGGGGTGGGGAG	0.607													9	34					6.40141e-05	6.86981e-05	1	0	T	29599467	G	T	29599467	3	4	6	1	0	0	0	0	1	0	0	0	10036	1232	43	4	664	4	MTUS2	13	29599467	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08		29599467	85570411	97	1721											
TRPC4	7223	broad.mit.edu	37	chr13	38320380	38320380	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaaggccttgtagatgttGagtctggagcgtgagtgacg	8	10	16	7	2	1	4	0	3	1	1	1	5	1	5	2	2	1	2	2	2	2	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr13:38320380G>C	ENST00000379705.3	-	3	1448	c.591C>G	c.(589-591)ctC>ctG	p.L197L	TRPC4_ENST00000379673.2_Silent_p.L197L|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000355779.2_Silent_p.L197L|TRPC4_ENST00000379681.3_Silent_p.L197L|TRPC4_ENST00000358477.2_Silent_p.L197L|TRPC4_ENST00000447043.1_Silent_p.L197L|TRPC4_ENST00000426868.2_Silent_p.L197L|TRPC4_ENST00000338947.5_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	197					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)		TGTAGATGTTGAGTCTGGAGC	0.527													26	76					0	0	0	0	C	38320380	G	C	38320380	2	2	6	1	0	0	0	0	0	0	0	1	16675	1277	45	2		2	TRPC4	13	38320380	Silent	SNP	G	TCGA-BA-5149-01A-01D-1512-08	8720913	38320380	76849498	98	1722											
SLAIN1	122060	broad.mit.edu	37	chr13	78320898	78320898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgtaggaggagccccagttCccagtattttccttcaaata	10	12	9	10	0	1	0	1	0	0	0	3	2	3	2	4	2	1	3	4	2	4	7			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr13:78320898C>T	ENST00000466548.1	+	5	1126	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	SLAIN1_ENST00000351546.3_Missense_Mutation_p.S104F|SLAIN1_ENST00000358679.3_Missense_Mutation_p.S104F|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000488699.1_Missense_Mutation_p.S225F|SLAIN1_ENST00000267219.8_Missense_Mutation_p.S148F|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000418532.1_Missense_Mutation_p.S148F	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	367										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AGCCCCAGTTCCCAGTATTTT	0.478													54	97					0	0	0	0	T	78320898	C	T	78320898	3	4	6	1	0	0	0	0	1	0	0	0	14453	855	30	2	453	2	SLAIN1	13	78320898	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	40000518	78320898	36848980	99	1723											
OR4N2	390429	broad.mit.edu	37	chr14	20296147	20296147	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacaacttcttctgtgaTgtcccacaggtcatcaagct	9	12	8	12	0	4	1	2	1	2	0	5	2	5	2	1	2	2	1	1	2	2	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:20296147T>A	ENST00000315947.1	+	1	540	c.540T>A	c.(538-540)gaT>gaA	p.D180E	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	180					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)		TCTTCTGTGATGTCCCACAGG	0.542													84	135					0	0	0	0	A	20296147	T	A	20296147	3	1	6	1	0	0	0	0	1	0	0	0	11148	1461	51	5	542	5	OR4N2	14	20296147	Missense_Mutation	SNP	T	TCGA-BA-5149-01A-01D-1512-08		20296147	87053393	100	1724											
HOMEZ	57594	broad.mit.edu	37	chr14	23746104	23746104	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcagatgaccagctaatAccacagcggaggcgctgggc	10	7	12	12	2	2	2	1	1	1	1	2	3	2	3	2	3	3	2	2	3	2	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:23746104A>G	ENST00000357460.5	-	2	497	c.333T>C	c.(331-333)ggT>ggC	p.G111G	HOMEZ_ENST00000561013.1_Silent_p.G113G|HOMEZ_ENST00000431326.2_Silent_p.G113G	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	111						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACCAGCTAATACCACAGCGGA	0.498													6	244					0	0	0	0	G	23746104	A	G	23746104	2	3	6	1	0	0	0	0	0	0	0	1	7331	378	14	5		5	HOMEZ	14	23746104	Silent	SNP	A	TCGA-BA-5149-01A-01D-1512-08	3449957	23746104	83603436	101	1725											
RBM25	58517	broad.mit.edu	37	chr14	73566382	73566382	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttttcttttaggaggataTaaatgctatagaaatggaag	14	14	10	3	1	1	1	0	0	1	1	1	4	1	4	0	3	1	2	0	3	8	8			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:73566382T>G	ENST00000261973.7	+	9	1076	c.791T>G	c.(790-792)aTa>aGa	p.I264R	RBM25_ENST00000540173.1_Missense_Mutation_p.I264R|RBM25_ENST00000527432.1_Missense_Mutation_p.I264R|RBM25_ENST00000525321.1_Missense_Mutation_p.I264R|RBM25_ENST00000526754.1_Missense_Mutation_p.I264R	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	264					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TAGGAGGATATAAATGCTATA	0.358													22	156					0	0	0	0	G	73566382	T	G	73566382	3	3	6	1	0	0	0	0	1	0	0	0	13207	1406	49	5	821	5	RBM25	14	73566382	Missense_Mutation	SNP	T	TCGA-BA-5149-01A-01D-1512-08	49820278	73566382	33783158	102	1726											
HEATR4	399671	broad.mit.edu	37	chr14	73973233	73973233	+	Missense_Mutation	SNP	G	G	T																															cacaatccggttcttccattGacagctgttcagctccacag																										TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:73973233G>T	ENST00000553558.1	-	10	2245	c.1924C>A	c.(1924-1926)Caa>Aaa	p.Q642K	HEATR4_ENST00000560393.1_Missense_Mutation_p.Q595K|HEATR4_ENST00000334988.2_Missense_Mutation_p.Q642K	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTCTTCCATTGACAGCTGTTC	0.468													33	169					1.36161e-19	1.61922e-19	1	0	T	73973233	G	T	73973233	3	4	6	1	0	0	0	0	1	0	0	0	7080	1299	45	2	1192	2	HEATR4	14	73973233	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	406851	73973233	33376307	103	1727	28	2									
HEATR4	399671	broad.mit.edu	37	chr14	73973234	73973234	+	Nonsense_Mutation	SNP	A	A	T																															acaatccggttcttccattgAcagctgttcagctccacagc																										TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:73973234A>T	ENST00000553558.1	-	10	2244	c.1923T>A	c.(1921-1923)tgT>tgA	p.C641*	HEATR4_ENST00000560393.1_Nonsense_Mutation_p.C594*|HEATR4_ENST00000334988.2_Nonsense_Mutation_p.C641*	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCTTCCATTGACAGCTGTTCA	0.468													33	170					0	0	0	0	T	73973234	A	T	73973234	4	4	6	1	0	0	0	0	0	1	0	0	7080	273	10	5	1193	5	HEATR4	14	73973234	Nonsense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	1	73973234	33376306	104	1728	28	2									
NEK9	91754	broad.mit.edu	37	chr14	75562095	75562095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttccaatggataagccaCtgctattggaacggatggtc	11	10	11	9	1	0	0	0	0	0	0	2	3	1	3	2	4	3	2	2	4	4	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:75562095C>T	ENST00000238616.5	-	18	2371	c.2213G>A	c.(2212-2214)aGt>aAt	p.S738N		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	738	Interaction with NEK6.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GGATAAGCCACTGCTATTGGA	0.388													7	105					0	0	0	0	T	75562095	C	T	75562095	3	4	6	1	0	0	0	0	1	0	0	0	10401	565	20	4	746	4	NEK9	14	75562095	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	1588861	75562095	31787445	105	1729											
CYP46A1	10858	broad.mit.edu	37	chr14	100187605	100187605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaggtggatgaggtcattgGttctaagaggtacctggatt	9	12	15	5	1	2	2	1	1	1	1	2	5	2	4	1	6	1	2	1	6	2	5			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:100187605G>A	ENST00000554176.1	+	6	1217	c.551G>A	c.(550-552)gGt>gAt	p.G184D	CYP46A1_ENST00000261835.3_Missense_Mutation_p.G337D|CYP46A1_ENST00000423126.2_Missense_Mutation_p.G240D			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	337					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GAGGTCATTGGTTCTAAGAGG	0.547													16	75					0	0	0	0	A	100187605	G	A	100187605	3	1	6	1	0	0	0	0	1	0	0	0	4214	1261	44	4	1052	4	CYP46A1	14	100187605	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	24625510	100187605	7161935	106	1730											
MAPKBP1	23005	broad.mit.edu	37	chr15	42113097	42113097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggacccagaagaagagggcGctgggttcagccaggtgtgg	10	5	18	8	1	1	3	1	0	0	3	1	4	1	4	2	5	1	2	2	5	2	1			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr15:42113097G>A	ENST00000457542.2	+	23	2835	c.2549G>A	c.(2548-2550)cGc>cAc	p.R850H	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R733H|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R689H|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R856H|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R850H	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	856										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGAAGAGGGCGCTGGGTTCAG	0.637													13	52					0	0	0	0	A	42113097	G	A	42113097	3	1	6	1	0	0	0	0	1	0	0	0	9361	1087	38	1	2657	1	MAPKBP1	15	42113097	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08		42113097	60418295	107	1731											
CILP	8483	broad.mit.edu	37	chr15	65494259	65494259	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcacagccccagcatcactCtgggccttgcaaaagtactc	10	9	7	15	0	3	0	2	0	1	0	4	0	3	0	3	1	4	3	3	1	3	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr15:65494259C>G	ENST00000261883.4	-	8	1303	c.1137G>C	c.(1135-1137)caG>caC	p.Q379H		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	379	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAGCATCACTCTGGGCCTTGC	0.572													11	46					0	0	0	0	G	65494259	C	G	65494259	3	3	6	1	0	0	0	0	1	0	0	0	3458	912	32	2	2425	2	CILP	15	65494259	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	23381162	65494259	37037133	108	1732											
SEPT12	124404	broad.mit.edu	37	chr16	4835848	4835848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtccccgaagccgggcgtgtCcgtcaccgtcagcttcagct	5	8	12	16	5	3	0	3	0	0	0	5	1	5	0	5	1	3	2	5	1	1	1	rs141666105		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:4835848C>G	ENST00000268231.8	-	4	597	c.334G>C	c.(334-336)Gac>Cac	p.D112H	SEPT12_ENST00000396693.5_Missense_Mutation_p.D112H|SEPT12_ENST00000591861.1_5'UTR	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	112					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	p.D112N(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CCGGGCGTGTCCGTCACCGTC	0.547													24	88					0	0	0	0	G	4835848	C	G	4835848	3	3	6	1	0	0	0	0	1	0	0	0	14149	855	30	2	770	2	SEPT12	16	4835848	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08		4835848	85518905	109	1733											
SMG1	23049	broad.mit.edu	37	chr16	18852958	18852958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataagggtgtggctccatCtacccactggattagtcctg	10	11	10	10	0	1	0	0	0	1	0	3	1	3	1	3	3	1	1	3	3	4	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:18852958C>A	ENST00000446231.2	-	41	7037	c.6625G>T	c.(6625-6627)Gat>Tat	p.D2209Y	SMG1_ENST00000389467.3_Missense_Mutation_p.D2209Y			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2209	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTGGCTCCATCTACCCACTGG	0.433													47	171					4.01344e-20	4.83812e-20	1	0	A	18852958	C	A	18852958	3	1	6	1	0	0	0	0	1	0	0	0	14883	913	32	2	4452	2	SMG1	16	18852958	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	14017110	18852958	71501795	110	1734											
CETP	1071	broad.mit.edu	37	chr16	56996954	56996954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaaggtgatccagaccGccttccagcgagccagctac	9	6	10	16	2	0	2	0	1	0	1	2	3	2	2	6	1	5	1	6	1	2	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:56996954G>T	ENST00000200676.3	+	2	281	c.151G>T	c.(151-153)Gcc>Tcc	p.A51S	CETP_ENST00000379780.2_Missense_Mutation_p.A51S|CETP_ENST00000569082.1_3'UTR|CETP_ENST00000566128.1_5'UTR	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	51					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GATCCAGACCGCCTTCCAGCG	0.622													12	67					1.36491e-13	1.59089e-13	1	0	T	56996954	G	T	56996954	3	4	6	1	0	0	0	0	1	0	0	0	3306	1087	38	3	157	3	CETP	16	56996954	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	38143996	56996954	33357799	111	1735											
ZFPM1	161882	broad.mit.edu	37	chr16	88598565	88598565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagacctaccccaacgagCgcgtctgccccttcccccag	9	5	8	19	3	1	1	0	0	1	1	2	3	2	1	7	0	4	0	7	0	3	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:88598565C>T	ENST00000319555.3	+	7	1190	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	290					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCCCAACGAGCGCGTCTGCCC	0.716													7	46					0	0	0	0	T	88598565	C	T	88598565	3	4	6	1	0	0	0	0	1	0	0	0	17752	768	27	1	894	1	ZFPM1	16	88598565	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	31601611	88598565	1756188	112	1736											
CDH15	1013	broad.mit.edu	37	chr16	89254553	89254553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcggagtggatgtgggaCgcctggaagtggaggacagg	9	6	20	6	2	1	0	1	0	0	0	1	6	1	6	1	7	1	0	1	7	1	0			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:89254553C>T	ENST00000289746.2	+	7	903	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	280	Cadherin 3.				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)		GGATGTGGGACGCCTGGAAGT	0.647													4	40					0	0	0	0	T	89254553	C	T	89254553	3	4	6	1	0	0	0	0	1	0	0	0	3129	536	19	1	864	1	CDH15	16	89254553	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	655988	89254553	1100200	113	1737											
ANKRD11	29123	broad.mit.edu	37	chr16	89351208	89351208	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attccacactggagccctcaGaggagtagtcagactcgctt	10	9	10	12	1	2	2	2	0	0	2	4	4	3	4	2	2	1	2	2	2	1	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:89351208G>C	ENST00000301030.4	-	9	2202	c.1742C>G	c.(1741-1743)tCt>tGt	p.S581C	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S581C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	581	Ser-rich.					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)		GGAGCCCTCAGAGGAGTAGTC	0.547													12	69					0	0	0	0	C	89351208	G	C	89351208	3	2	6	1	0	0	0	0	1	0	0	0	639	942	33	2	6269	2	ANKRD11	16	89351208	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	96655	89351208	1003545	114	1738											
GAS7	8522	broad.mit.edu	37	chr17	9820581	9820581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagggcggatgttgcccgtCttgtgctctctgacccacag	6	10	12	13	2	2	1	0	1	2	0	3	2	2	2	2	2	2	2	2	2	0	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr17:9820581C>G	ENST00000396115.1	-	14	1525	c.1215G>C	c.(1213-1215)aaG>aaC	p.K405N	GAS7_ENST00000323816.4_Missense_Mutation_p.K401N|GAS7_ENST00000585266.1_Missense_Mutation_p.K401N|GAS7_ENST00000542249.1_Missense_Mutation_p.K410N|GAS7_ENST00000579158.1_Missense_Mutation_p.K417N|GAS7_ENST00000580865.1_Missense_Mutation_p.K325N|GAS7_ENST00000437099.2_Missense_Mutation_p.K401N|GAS7_ENST00000432992.2_Missense_Mutation_p.K465N|GAS7_ENST00000540214.1_Missense_Mutation_p.K170N|GAS7_ENST00000583882.1_Intron	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	465					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGTTGCCCGTCTTGTGCTCTC	0.627			T	MLL	AML*								17	68					0	0	0	0	G	9820581	C	G	9820581	3	3	6	1	0	0	0	0	1	0	0	0	6299	912	32	2	39	2	GAS7	17	9820581	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08		9820581	71374629	115	1739											
TMIGD1	388364	broad.mit.edu	37	chr17	28645840	28645840	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagataccttcattattttCtttcttctagcaatcagtcc	9	19	3	10	0	5	1	2	0	3	1	6	1	6	1	2	0	2	1	2	0	5	9			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr17:28645840C>T	ENST00000328886.4	-	5	804	c.732G>A	c.(730-732)aaG>aaA	p.K244K	TMIGD1_ENST00000538566.2_Intron	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	244						integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TCATTATTTTCTTTCTTCTAG	0.353													28	104					0	0	0	0	T	28645840	C	T	28645840	2	4	6	1	0	0	0	0	0	0	0	1	16324	912	32	2		2	TMIGD1	17	28645840	Silent	SNP	C	TCGA-BA-5149-01A-01D-1512-08	18825259	28645840	52549370	116	1740											
FAM134C	162427	broad.mit.edu	37	chr17	40761276	40761276	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagcctgacacatctcGgcggcccctgaaagtcgacc	9	5	11	16	3	1	2	0	2	1	0	3	4	1	3	5	3	1	0	5	3	1	0			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr17:40761276G>A	ENST00000309428.5	-	1	126	c.67C>T	c.(67-69)Cga>Tga	p.R23*	FAM134C_ENST00000585894.1_Intron|FAM134C_ENST00000543197.1_5'UTR	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	23						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GACACATCTCGGCGGCCCCTG	0.711													29	20					0	0	0	0	A	40761276	G	A	40761276	4	1	6	1	0	0	0	0	0	1	0	0	5488	1124	39	1	1369	1	FAM134C	17	40761276	Nonsense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	12115436	40761276	40433934	117	1741											
RGS9	8787	broad.mit.edu	37	chr17	63156694	63156694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagtggccagctgaagAtaccgattacggtaaatact	13	8	10	10	2	0	2	0	1	0	1	0	3	0	2	3	2	5	3	3	2	6	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr17:63156694A>G	ENST00000449996.3	+	5	425	c.353A>G	c.(352-354)gAt>gGt	p.D118G	RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000262406.9_Missense_Mutation_p.D118G|RGS9_ENST00000443584.3_Missense_Mutation_p.D118G	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	118					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCAGCTGAAGATACCGATTAC	0.463													12	60					0	0	0	0	G	63156694	A	G	63156694	3	3	6	1	0	0	0	0	1	0	0	0	13396	333	12	5	371	5	RGS9	17	63156694	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08	22395418	63156694	18038516	118	1742											
MC2R	4158	broad.mit.edu	37	chr18	13885247	13885247	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgccacgtggcttgagatAgcccatgtttctcaatatga	10	12	9	10	1	1	2	1	2	1	1	2	3	1	2	2	1	2	2	2	1	3	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr18:13885247A>T	ENST00000327606.3	-	2	451	c.271T>A	c.(271-273)Tat>Aat	p.Y91N		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	91					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGCTTGAGATAGCCCATGTTT	0.458													20	105					0	0	0	0	T	13885247	A	T	13885247	3	4	6	1	0	0	0	0	1	0	0	0	9433	420	15	5	626	5	MC2R	18	13885247	Missense_Mutation	SNP	A	TCGA-BA-5149-01A-01D-1512-08		13885247	64192001	119	1743											
FBXO15	201456	broad.mit.edu	37	chr18	71797721	71797721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgagaatgtcagctagtgCggcttttacagatgctattt	9	16	10	6	1	1	2	1	1	0	2	1	3	1	2	0	1	4	3	0	1	4	6			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr18:71797721C>T	ENST00000269500.5	-	4	612	c.277G>A	c.(277-279)Gca>Aca	p.A93T	FBXO15_ENST00000419743.2_Missense_Mutation_p.A169T	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	93										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TCAGCTAGTGCGGCTTTTACA	0.418													3	83					0	0	0	0	T	71797721	C	T	71797721	3	4	6	1	0	0	0	0	1	0	0	0	5773	768	27	1	1055	1	FBXO15	18	71797721	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	57912474	71797721	6279527	120	1744											
ARRDC2	27106	broad.mit.edu	37	chr19	18121139	18121139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcttcctgctggactggagGctgggggccttgccggagcg	4	8	18	11	2	0	0	0	0	0	0	1	3	1	3	3	6	4	3	3	6	0	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr19:18121139G>T	ENST00000222250.4	+	6	1127	c.984G>T	c.(982-984)agG>agT	p.R328S	ARRDC2_ENST00000379656.2_Missense_Mutation_p.R323S	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	328										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TGGACTGGAGGCTGGGGGCCT	0.647													12	33					4.7546e-09	5.29627e-09	1	0	T	18121139	G	T	18121139	3	4	6	1	0	0	0	0	1	0	0	0	987	1194	42	4	1269	4	ARRDC2	19	18121139	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08		18121139	41007844	121	1745											
GPI	2821	broad.mit.edu	37	chr19	34859497	34859497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatccccagggtcgagccGtgctgcacgtggctctgcgg	5	8	15	13	4	1	0	0	0	1	0	3	1	2	0	3	3	4	4	3	3	1	1			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr19:34859497G>T	ENST00000415930.3	+	5	579	c.409G>T	c.(409-411)Gtg>Ttg	p.V137L	GPI_ENST00000586425.1_Missense_Mutation_p.V98L|GPI_ENST00000356487.5_Missense_Mutation_p.V98L	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	98					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGGTCGAGCCGTGCTGCACGT	0.597													8	71					1.12685e-05	1.22423e-05	1	0	T	34859497	G	T	34859497	3	4	6	1	0	0	0	0	1	0	0	0	6660	1145	40	3	427	3	GPI	19	34859497	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	16738358	34859497	24269486	122	1746											
FFAR3	2865	broad.mit.edu	37	chr19	35850648	35850648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcctccgggttccaagccGactttcatgagctgctgagg	6	10	11	14	2	1	2	1	2	0	0	4	3	4	2	5	2	3	3	5	2	1	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr19:35850648G>A	ENST00000327809.4	+	2	1057	c.856G>A	c.(856-858)Gac>Aac	p.D286N	FFAR3_ENST00000594310.1_Missense_Mutation_p.D286N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	286						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTTCCAAGCCGACTTTCATGA	0.597													12	92					0	0	0	0	A	35850648	G	A	35850648	3	1	6	1	0	0	0	0	1	0	0	0	5874	1058	37	1	858	1	FFAR3	19	35850648	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08	991151	35850648	23278335	123	1747											
ZNF567	163081	broad.mit.edu	37	chr19	37210997	37210997	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtgaatgtggaaagtcCttccgccagaagacaaccct	12	9	10	10	1	0	3	0	1	0	2	2	4	2	4	4	1	1	1	4	1	5	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr19:37210997C>A	ENST00000585696.1	+	3	2508	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	ZNF567_ENST00000392163.2_Silent_p.S426S|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Silent_p.S457S|ZNF567_ENST00000588311.1_Silent_p.S426S|ZNF567_ENST00000360729.4_Silent_p.S426S			Q8N184	ZN567_HUMAN	zinc finger protein 567	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTGGAAAGTCCTTCCGCCAGA	0.428													38	73					3.3946e-10	3.85451e-10	1	0	A	37210997	C	A	37210997	2	1	6	1	0	0	0	0	0	0	0	1	18093	668	24	4		4	ZNF567	19	37210997	Silent	SNP	C	TCGA-BA-5149-01A-01D-1512-08	1360349	37210997	21917986	124	1748											
MARK4	57787	broad.mit.edu	37	chr19	45768123	45768123	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttgactacctcgtgtcGcatggccgcatgaaggagaa	9	10	13	9	3	0	3	0	2	0	1	2	4	0	3	2	2	1	3	2	2	3	2			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr19:45768123G>A	ENST00000300843.4	+	6	744	c.447G>A	c.(445-447)tcG>tcA	p.S149S	MARK4_ENST00000262891.4_Silent_p.S149S	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	149	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACCTCGTGTCGCATGGCCGCA	0.677													13	147					0	0	0	0	A	45768123	G	A	45768123	2	1	6	1	0	0	0	0	0	0	0	1	9384	1074	38	1		1	MARK4	19	45768123	Silent	SNP	G	TCGA-BA-5149-01A-01D-1512-08	8557126	45768123	13360860	125	1749											
ZNF337	26152	broad.mit.edu	37	chr20	25656794	25656794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgcttacactgcctgcacGcaaagggcttctcccctgag	7	11	9	14	1	1	1	0	1	1	0	2	1	1	1	3	1	4	4	3	1	2	3			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr20:25656794G>A	ENST00000376436.1	-	4	1669	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.A377V|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.A345V|RP4-694B14.5_ENST00000439498.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGCCTGCACGCAAAGGGCTT	0.512													25	130					0	0	0	0	A	25656794	G	A	25656794	3	1	6	1	0	0	0	0	1	0	0	0	17948	1087	38	1	1129	1	ZNF337	20	25656794	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08		25656794	37368726	126	1750											
CBFA2T2	9139	broad.mit.edu	37	chr20	32212735	32212735	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcttcagcattacacCttagaggatattgcaacttc	11	12	5	13	0	2	1	1	0	1	1	3	2	2	2	3	1	4	2	3	1	4	6			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr20:32212735C>T	ENST00000346541.3	+	7	1422	c.885C>T	c.(883-885)acC>acT	p.T295T	CBFA2T2_ENST00000359606.3_Silent_p.T305T|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000397800.1_Silent_p.T266T|CBFA2T2_ENST00000375279.2_Silent_p.T295T|CBFA2T2_ENST00000342704.5_Silent_p.T286T	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	295						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGCATTACACCTTAGAGGATA	0.532													45	80					0	0	0	0	T	32212735	C	T	32212735	2	4	6	1	0	0	0	0	0	0	0	1	2722	668	24	4		4	CBFA2T2	20	32212735	Silent	SNP	C	TCGA-BA-5149-01A-01D-1512-08	6555941	32212735	30812785	127	1751											
RBL1	5933	broad.mit.edu	37	chr20	35717398	35717398	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaagaggtttaccttaatTtagctgaacgtagtattctg	12	15	8	6	1	2	2	1	1	1	1	2	2	2	2	1	1	3	4	1	1	7	8			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr20:35717398T>G	ENST00000373664.3	-	2	350	c.284A>C	c.(283-285)aAa>aCa	p.K95T	RBL1_ENST00000344359.3_Missense_Mutation_p.K95T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	95					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTACCTTAATTTAGCTGAACG	0.328													65	106					0	0	0	0	G	35717398	T	G	35717398	3	3	6	1	0	0	0	0	1	0	0	0	13191	1841	64	5	3015	5	RBL1	20	35717398	Missense_Mutation	SNP	T	TCGA-BA-5149-01A-01D-1512-08	3504663	35717398	27308122	128	1752											
RALGAPB	57148	broad.mit.edu	37	chr20	37144953	37144953	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatccctgccttaaacatCtgcctcaaatattttttcgt	10	16	4	11	1	2	0	1	0	1	0	4	0	3	0	3	0	3	1	3	0	5	6			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr20:37144953C>T	ENST00000262879.6	+	7	1275	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	RALGAPB_ENST00000397040.1_Silent_p.L331L|RALGAPB_ENST00000397038.1_Silent_p.L109L|RALGAPB_ENST00000537204.1_Silent_p.L331L|RALGAPB_ENST00000397042.3_Silent_p.L331L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	331					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTTAAACATCTGCCTCAAAT	0.413													54	419					0	0	0	0	T	37144953	C	T	37144953	2	4	6	1	0	0	0	0	0	0	0	1	13097	912	32	2		2	RALGAPB	20	37144953	Silent	SNP	C	TCGA-BA-5149-01A-01D-1512-08	1427555	37144953	25880567	129	1753											
TP53RK	112858	broad.mit.edu	37	chr20	45315819	45315819	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccttcaatttcttccataTataagcagttggaagcatag	13	13	7	8	0	2	0	1	0	1	0	3	1	3	1	2	1	3	3	2	1	6	8			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr20:45315819T>C	ENST00000372102.3	-	2	365	c.340A>G	c.(340-342)Ata>Gta	p.I114V				Q96S44	PRPK_HUMAN	TP53 regulating kinase	0	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TTCTTCCATATATAAGCAGTT	0.403													108	477					0	0	0	0	C	45315819	T	C	45315819	3	2	6	1	0	0	0	0	1	0	0	0	16485	1406	49	5	430	5	TP53RK	20	45315819	Missense_Mutation	SNP	T	TCGA-BA-5149-01A-01D-1512-08	8170866	45315819	17709701	130	1754											
RUNX1	861	broad.mit.edu	37	chr21	36206846	36206846	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagttcactgagccgctcGgaaaaggacaagctcccggg	10	6	12	13	3	1	1	1	1	0	0	4	3	3	3	3	3	2	3	3	3	3	1			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr21:36206846G>A	ENST00000344691.4	-	4	2162	c.585C>T	c.(583-585)tcC>tcT	p.S195S	RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000325074.5_Silent_p.S210S|RUNX1_ENST00000437180.1_Silent_p.S222S|RUNX1_ENST00000358356.5_Silent_p.S195S|RUNX1_ENST00000300305.3_Silent_p.S222S	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	195	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S218fs*4(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGAGCCGCTCGGAAAAGGACA	0.642			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"								25	126					0	0	0	0	A	36206846	G	A	36206846	2	1	6	1	0	0	0	0	0	0	0	1	13831	1103	39	1		1	RUNX1	21	36206846	Silent	SNP	G	TCGA-BA-5149-01A-01D-1512-08		36206846	11923049	131	1755											
TNRC6B	23112	broad.mit.edu	37	chr22	40719213	40719213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctcctttactacctggtGaccttctgggaggagggtcg	5	12	13	11	1	1	1	0	1	1	0	3	3	2	3	3	4	3	1	3	4	2	4			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr22:40719213G>A	ENST00000454349.2	+	23	5681	c.5470G>A	c.(5470-5472)Gac>Aac	p.D1824N	TNRC6B_ENST00000402203.1_Missense_Mutation_p.D1020N|TNRC6B_ENST00000335727.8_Missense_Mutation_p.D1714N|TNRC6B_ENST00000301923.9_Missense_Mutation_p.D1020N	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1824					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ACTACCTGGTGACCTTCTGGG	0.502													27	58					0	0	0	0	A	40719213	G	A	40719213	3	1	6	1	0	0	0	0	1	0	0	0	16435	1290	45	2	5681	2	TNRC6B	22	40719213	Missense_Mutation	SNP	G	TCGA-BA-5149-01A-01D-1512-08		40719213	10585353	132	1756											
POLR3H	171568	broad.mit.edu	37	chr22	41928719	41928719	+	Frame_Shift_Del	DEL	A	A	-																															caatgagaatctcatctaggAatggatgaaacaccacgcag																										TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr22:41928719delA	ENST00000355209.4	-	3	582	c.239delT	c.(238-240)tcfs	p.F80fs	POLR3H_ENST00000337566.5_Intron|POLR3H_ENST00000396504.2_Frame_Shift_Del_p.F80fs|POLR3H_ENST00000420561.1_5'UTR|POLR3H_ENST00000407461.1_Frame_Shift_Del_p.F80fs	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	80					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						CTCATCTAGGAATGGATGAAA	0.547											OREG0026590	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	73	---	---	---	---					-	41928719	A	-	41928719	7	5	6	1	0	1	0	1	0	0	0	0	12308	246	9	0	391	0	POLR3H	22	41928719	Frame_Shift_Del	DEL	A	TCGA-BA-5149-01A-01D-1512-08	1209506	41928719	9375847	133	1757											
ASB9	140462	broad.mit.edu	37	chrX	15268558	15268558	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctttttgctttacctgactCcagaagcttcttgacacagg	8	14	8	11	0	1	3	0	2	1	1	2	3	2	3	2	1	3	3	2	1	2	6			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:15268558C>A	ENST00000546332.1	-	6	1045	c.562G>T	c.(562-564)Gag>Tag	p.E188*	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Nonsense_Mutation_p.E188*|ASB9_ENST00000380488.4_Nonsense_Mutation_p.E188*|ASB9_ENST00000380483.3_Nonsense_Mutation_p.E178*	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	188					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TTACCTGACTCCAGAAGCTTC	0.393													37	56					4.14481e-20	4.96249e-20	1	0	A	15268558	C	A	15268558	4	1	6	1	0	0	0	0	0	1	0	0	1034	864	30	2	363	2	ASB9	23	15268558	Nonsense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08		15268558	140002002	134	1758											
SLC7A3	84889	broad.mit.edu	37	chrX	70149727	70149727	+	Missense_Mutation	SNP	C	C	T																															acccaatgtgctgcccacacCcagggccactaaatccaggg																										TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:70149727C>T	ENST00000374299.3	-	2	265	c.121G>A	c.(121-123)Ggt>Agt	p.G41S	SLC7A3_ENST00000298085.4_Missense_Mutation_p.G41S			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	41					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGCCCACACCCAGGGCCACT	0.557													7	28					0	0	0	0	T	70149727	C	T	70149727	3	4	6	1	0	0	0	0	1	0	0	0	14786	623	22	4	1782	4	SLC7A3	23	70149727	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	54881169	70149727	85120833	135	1759	29	2									
SLC7A3	84889	broad.mit.edu	37	chrX	70149728	70149728	+	Silent	SNP	C	C	A																															cccaatgtgctgcccacaccCagggccactaaatccagggt																										TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:70149728C>A	ENST00000374299.3	-	2	264	c.120G>T	c.(118-120)ctG>ctT	p.L40L	SLC7A3_ENST00000298085.4_Silent_p.L40L			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	40					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCCCACACCCAGGGCCACTA	0.557													7	30					0.00307968	0.00318837	1	0	A	70149728	C	A	70149728	2	1	6	1	0	0	0	0	0	0	0	1	14786	581	21	4		4	SLC7A3	23	70149728	Silent	SNP	C	TCGA-BA-5149-01A-01D-1512-08	1	70149728	85120832	136	1760	29	2									
GUCY2F	2986	broad.mit.edu	37	chrX	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-																															ggaaggggcttcatgaagccTtttttcccaatcagccagaa																										TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418													7	359	---	---	---	---					-	108619355	T	-	108619355	7	5	6	1	0	1	0	1	0	0	0	0	6948	1606	56	0	142	0	GUCY2F	23	108619355	Frame_Shift_Del	DEL	T	TCGA-BA-5149-01A-01D-1512-08	38469627	108619355	46651205	137	1761											
STAG2	10735	broad.mit.edu	37	chrX	123164834	123164834	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtaaaaaaggcaaaaagggCccagcagaaaagggcaaagg	20	2	13	6	0	0	1	0	0	0	1	0	1	0	1	1	4	1	4	1	4	8	1			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:123164834C>T	ENST00000371160.1	+	5	437	c.147C>T	c.(145-147)ggC>ggT	p.G49G	STAG2_ENST00000354548.5_5'UTR|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Silent_p.G49G|STAG2_ENST00000371144.3_Silent_p.G49G|STAG2_ENST00000218089.9_Silent_p.G49G|STAG2_ENST00000371157.3_Silent_p.G49G			Q8N3U4	STAG2_HUMAN	stromal antigen 2	49					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCAAAAAGGGCCCAGCAGAAA	0.418													76	31					0	0	0	0	T	123164834	C	T	123164834	2	4	6	1	0	0	0	0	0	0	0	1	15333	726	26	4		4	STAG2	23	123164834	Silent	SNP	C	TCGA-BA-5149-01A-01D-1512-08	14545479	123164834	32105726	138	1762											
IRAK1	3654	broad.mit.edu	37	chrX	153278545	153278545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcccccagctcgattctcCtgccgtgtccccctgaggac	5	9	8	19	2	1	1	0	1	1	0	5	3	3	2	6	1	2	1	6	1	0	1			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:153278545C>T	ENST00000369980.3	-	12	2046	c.1879G>A	c.(1879-1881)Gga>Aga	p.G627R	IRAK1_ENST00000429936.2_Missense_Mutation_p.G623R|IRAK1_ENST00000369974.2_Missense_Mutation_p.G548R|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393687.2_Missense_Mutation_p.G597R|IRAK1_ENST00000393682.1_Missense_Mutation_p.G608R	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	627					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGATTCTCCTGCCGTGTCC	0.687													16	15					0	0	0	0	T	153278545	C	T	153278545	3	4	6	1	0	0	0	0	1	0	0	0	7874	690	24	4	271	4	IRAK1	23	153278545	Missense_Mutation	SNP	C	TCGA-BA-5149-01A-01D-1512-08	30113711	153278545	1992015	139	1763											
MRPL20	55052	broad.mit.edu	37	chr1	1342362	1342362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaatcacggttctgaccGccaacctgtagcagcgattt	9	10	9	13	4	2	1	1	1	1	0	3	3	2	1	3	1	3	3	3	1	3	3			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:1342362G>A	ENST00000482352.1	-	2	197	c.125C>T	c.(124-126)gCg>gTg	p.A42V	MRPL20_ENST00000344843.7_Missense_Mutation_p.A42V			Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	42							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGTTCTGACCGCCAACCTGTA	0.602													6	422					0	0	0	0	A	1342362	G	A	1342362	3	1	7	1	0	0	0	0	1	0	0	0	9856	1087	38	1	336	1	MRPL20	1	1342362	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08		1342362	247908259	1	1764											
TNFRSF25	8718	broad.mit.edu	37	chr1	6521694	6521694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcgcagccccagcgtgcGcacgaactccttccagcgcc	6	5	10	20	6	0	0	0	0	0	0	3	1	2	0	5	0	5	2	5	0	1	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:6521694G>A	ENST00000377782.3	-	10	1148	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	TNFRSF25_ENST00000356876.3_Missense_Mutation_p.R352C|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.R169C|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.R307C|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.R315C	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	352	Death.				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CCCAGCGTGCGCACGAACTCC	0.687													8	35					0	0	0	0	A	6521694	G	A	6521694	3	1	7	1	0	0	0	0	1	0	0	0	16390	1087	38	1	203	1	TNFRSF25	1	6521694	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	5179332	6521694	242728927	2	1765											
HIVEP3	59269	broad.mit.edu	37	chr1	42049362	42049362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgatcaccttcttcctctcGcttaagcggagggccagctt	6	12	9	14	3	3	0	1	0	2	0	6	2	4	1	3	2	2	2	3	2	1	4			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:42049362G>T	ENST00000372584.1	-	3	2121	c.1107C>A	c.(1105-1107)agC>agA	p.S369R	HIVEP3_ENST00000429157.2_Missense_Mutation_p.S369R|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S369R|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S369R	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	369	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)				TCTTCCTCTCGCTTAAGCGGA	0.557													4	170					1	1	1	0	T	42049362	G	T	42049362	3	4	7	1	0	0	0	0	1	0	0	0	7238	1078	38	3	6137	3	HIVEP3	1	42049362	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	35527668	42049362	207201259	3	1766											
CRYZ	1429	broad.mit.edu	37	chr1	75172795	75172795	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatacttactatcactcGtcctccatgtgacagaagac	13	10	7	11	1	1	3	1	1	0	2	4	4	3	4	2	1	2	0	2	1	5	3			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:75172795G>A	ENST00000417775.1	-	8	1228	c.724C>T	c.(724-726)Cga>Tga	p.R242*	CRYZ_ENST00000370871.3_Intron|CRYZ_ENST00000370872.3_Nonsense_Mutation_p.R105*|CRYZ_ENST00000340866.5_Nonsense_Mutation_p.R242*|CRYZ_ENST00000492102.1_5'UTR	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	242					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	ACTATCACTCGTCCTCCATGT	0.274													34	145					0	0	0	0	A	75172795	G	A	75172795	4	1	7	1	0	0	0	0	0	1	0	0	3952	1153	40	1	277	1	CRYZ	1	75172795	Nonsense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	33123433	75172795	174077826	4	1767											
SNX7	51375	broad.mit.edu	37	chr1	99161197	99161197	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagttcatggaaatgaatAactttattgaactatttagc	15	14	8	4	0	1	2	1	2	0	0	1	4	1	4	0	2	3	1	0	2	7	8			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:99161197A>G	ENST00000370189.5	+	6	935	c.571A>G	c.(571-573)Aac>Gac	p.N191D	SNX7_ENST00000306121.3_Missense_Mutation_p.N255D|SNX7_ENST00000529992.1_Missense_Mutation_p.N200D			Q9UNH6	SNX7_HUMAN	sorting nexin 7	191					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GGAAATGAATAACTTTATTGA	0.383													23	113					0	0	0	0	G	99161197	A	G	99161197	3	3	7	1	0	0	0	0	1	0	0	0	14995	362	13	5	781	5	SNX7	1	99161197	Missense_Mutation	SNP	A	TCGA-BA-5151-01A-01D-1434-08	23988402	99161197	150089424	5	1768											
VAV3	10451	broad.mit.edu	37	chr1	108292090	108292090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccaaaaagtcacctttttGttttctttatcggttgtagg	8	19	7	7	1	2	0	1	0	1	0	4	0	3	0	2	2	0	3	2	2	4	9			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:108292090G>T	ENST00000370056.4	-	14	1660	c.1386C>A	c.(1384-1386)aaC>aaA	p.N462K	VAV3_ENST00000527011.1_Missense_Mutation_p.N462K|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.N397K	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	462	PH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCACCTTTTTGTTTTCTTTAT	0.289													3	76					1	1	1	0	T	108292090	G	T	108292090	3	4	7	1	0	0	0	0	1	0	0	0	17229	1368	48	4	1238	4	VAV3	1	108292090	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	9130893	108292090	140958531	6	1769											
HRNR	388697	broad.mit.edu	37	chr1	152187690	152187690	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctagatgactgtcctgatcTagagccgtgttgtccgtagc	7	12	11	11	2	1	4	0	2	1	2	3	4	3	4	4	0	2	2	4	0	3	4			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:152187690T>A	ENST00000368801.2	-	3	6490	c.6415A>T	c.(6415-6417)Aga>Tga	p.R2139*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2139					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGATCTAGAGCCGTGT	0.572													36	1435					0	0	0	0	A	152187690	T	A	152187690	4	1	7	1	0	0	0	0	0	1	0	0	7409	1530	53	5	2141	5	HRNR	1	152187690	Nonsense_Mutation	SNP	T	TCGA-BA-5151-01A-01D-1434-08	43895600	152187690	97062931	7	1770											
HRNR	388697	broad.mit.edu	37	chr1	152191224	152191224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtcctgacctagagcCgtgttgttcgtagctggagg	6	12	14	9	2	0	3	0	2	0	1	2	4	1	4	3	2	2	4	3	2	2	4			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:152191224C>T	ENST00000368801.2	-	3	2956	c.2881G>A	c.(2881-2883)Ggc>Agc	p.G961S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	961					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTAGAGCCGTGTTGTTCG	0.537													102	382					0	0	0	0	T	152191224	C	T	152191224	3	4	7	1	0	0	0	0	1	0	0	0	7409	652	23	1	5675	1	HRNR	1	152191224	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	3534	152191224	97059397	8	1771											
OR10T2	128360	broad.mit.edu	37	chr1	158368907	158368907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgatcatatcccatcacaGcaatgaggaggcagttggtg	12	8	12	9	1	2	1	2	1	0	0	3	3	3	2	1	3	2	3	1	3	2	2			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:158368907G>A	ENST00000334438.1	-	1	349	c.350C>T	c.(349-351)gCt>gTt	p.A117V		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TCCCATCACAGCAATGAGGAG	0.493													4	155					0	0	0	0	A	158368907	G	A	158368907	3	1	7	1	0	0	0	0	1	0	0	0	10990	971	34	4	596	4	OR10T2	1	158368907	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	6177683	158368907	90881714	9	1772											
CACNA1S	779	broad.mit.edu	37	chr1	201012531	201012531	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggaagtcctccaagaaGacaggtgactccatctcttc	10	10	10	11	0	1	3	0	1	1	2	6	4	4	4	3	2	0	0	3	2	3	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:201012531G>T	ENST00000362061.3	-	40	5152	c.4926C>A	c.(4924-4926)gtC>gtA	p.V1642V	CACNA1S_ENST00000367338.3_Silent_p.V1623V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1642					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTCCAAGAAGACAGGTGACT	0.542											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	112					3.11337e-16	3.51597e-16	1	0	T	201012531	G	T	201012531	2	4	7	1	0	0	0	0	0	0	0	1	2572	929	33	2		2	CACNA1S	1	201012531	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08	42643624	201012531	48238090	10	1773											
CD55	1604	broad.mit.edu	37	chr1	207532966	207532966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgacttagccaaagaagaGttaagaagaaaatacacaca	20	6	8	7	0	0	5	0	1	0	4	0	5	0	5	1	0	2	2	1	0	8	3	rs55963761		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:207532966G>T	ENST00000314754.8	+	11	1340	c.1275G>T	c.(1273-1275)gaG>gaT	p.E425D	CD55_ENST00000465534.1_3'UTR|CD55_ENST00000391920.4_3'UTR|CD55_ENST00000367064.3_3'UTR|CD55_ENST00000367065.5_Missense_Mutation_p.E424D|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367062.4_3'UTR|CD55_ENST00000391921.4_3'UTR	NM_001114752.1	NP_001108224.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	0					complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	CCAAAGAAGAGTTAAGAAGAA	0.353													3	72					1	1	1	0	T	207532966	G	T	207532966	3	4	7	1	0	0	0	0	1	0	0	0	3053	1020	36	4	1317	4	CD55	1	207532966	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	6520435	207532966	41717655	11	1774											
PXDN	7837	broad.mit.edu	37	chr2	1667514	1667514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacaggaccaggtgccgcCggtccacggagagctggctc	8	5	15	13	3	0	2	0	1	0	1	2	4	1	3	4	5	2	2	4	5	0	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:1667514C>T	ENST00000252804.4	-	12	1480	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	477	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGGTGCCGCCGGTCCACGGA	0.602													5	139					0	0	0	0	T	1667514	C	T	1667514	3	4	7	1	0	0	0	0	1	0	0	0	12929	652	23	1	3057	1	PXDN	2	1667514	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08		1667514	241531859	12	1775											
CTNNA2	1496	broad.mit.edu	37	chr2	80101317	80101317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccgccacccagatgtcgCcgctacgagagccaaccgag	9	5	10	17	5	1	2	0	0	1	2	3	4	1	2	6	0	3	1	6	0	2	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:80101317C>T	ENST00000466387.1	+	10	1425	c.701C>T	c.(700-702)gCc>gTc	p.A234V	CTNNA2_ENST00000541047.1_Missense_Mutation_p.A234V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A268V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A234V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A234V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A234V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	234					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCAGATGTCGCCGCTACGAGA	0.582													38	78					0	0	0	0	T	80101317	C	T	80101317	3	4	7	1	0	0	0	0	1	0	0	0	4045	739	26	4	719	4	CTNNA2	2	80101317	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	78433803	80101317	163098056	13	1776											
CTNNA2	1496	broad.mit.edu	37	chr2	80620359	80620359	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggaaagaaaaaggagaTcctctcaacattgcgattga	17	7	11	6	1	1	3	1	1	1	2	3	7	2	5	1	3	2	0	1	3	5	2			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:80620359T>C	ENST00000466387.1	+	12	1804	c.1080T>C	c.(1078-1080)gaT>gaC	p.D360D	CTNNA2_ENST00000343114.3_Silent_p.D39D|CTNNA2_ENST00000541047.1_Silent_p.D360D|CTNNA2_ENST00000361291.4_Silent_p.D394D|CTNNA2_ENST00000540488.1_Silent_p.D360D|CTNNA2_ENST00000402739.4_Silent_p.D360D|CTNNA2_ENST00000496558.1_Silent_p.D360D			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	360					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAAAAGGAGATCCTCTCAACA	0.284													63	118					0	0	0	0	C	80620359	T	C	80620359	2	2	7	1	0	0	0	0	0	0	0	1	4045	1432	50	5		5	CTNNA2	2	80620359	Silent	SNP	T	TCGA-BA-5151-01A-01D-1434-08	519042	80620359	162579014	14	1777											
ZAP70	7535	broad.mit.edu	37	chr2	98354062	98354062	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacgtcctgctggttaaccgGcactacgccaagatcagcga	11	7	10	13	4	1	1	1	0	0	1	2	2	2	1	3	2	5	3	3	2	4	2			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:98354062G>A	ENST00000264972.5	+	11	1631	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.R165R|ZAP70_ENST00000442208.1_Silent_p.R346R	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	472	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TGGTTAACCGGCACTACGCCA	0.597													3	68					0	0	0	0	A	98354062	G	A	98354062	2	1	7	1	0	0	0	0	0	0	0	1	17610	1190	42	4		4	ZAP70	2	98354062	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08	17733703	98354062	144845311	15	1778											
GPR45	11250	broad.mit.edu	37	chr2	105858997	105858997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtccgcaagaacgccgtgCgcgtgcacaaccagtcggac	9	4	13	15	7	0	1	0	0	0	1	2	2	1	2	3	2	4	2	3	2	3	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:105858997C>T	ENST00000258456.1	+	1	798	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	228						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GAACGCCGTGCGCGTGCACAA	0.652													5	150					0	0	0	0	T	105858997	C	T	105858997	3	4	7	1	0	0	0	0	1	0	0	0	6745	768	27	1	684	1	GPR45	2	105858997	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	7504935	105858997	137340376	16	1779											
MARCH7	64844	broad.mit.edu	37	chr2	160585576	160585576	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccaagaagaatttctgttCaaccttccagctccttaagt	11	14	5	11	0	2	2	1	0	1	2	5	2	5	2	4	0	2	2	4	0	5	5			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:160585576C>T	ENST00000259050.3	+	2	165	c.43C>T	c.(43-45)Caa>Taa	p.Q15*	MARCH7_ENST00000409175.1_Nonsense_Mutation_p.Q15*|MARCH7_ENST00000539065.1_Nonsense_Mutation_p.Q15*|MARCH7_ENST00000473749.1_3'UTR	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	15	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AATTTCTGTTCAACCTTCCAG	0.343													34	70					0	0	0	0	T	160585576	C	T	160585576	4	4	7	1	0	0	0	0	0	1	0	0	9375	827	29	2	45	2	MARCH7	2	160585576	Nonsense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	54726579	160585576	82613797	17	1780											
SESTD1	91404	broad.mit.edu	37	chr2	179979882	179979882	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgtttccatactctgttCagtcgaggaagtgtatcccc	9	14	8	10	1	2	0	1	0	1	0	5	2	4	1	3	1	1	3	3	1	4	5			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:179979882C>A	ENST00000428443.3	-	16	2065	c.1749G>T	c.(1747-1749)ctG>ctT	p.L583L		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	583					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATACTCTGTTCAGTCGAGGAA	0.433													21	66					4.96729e-08	5.42262e-08	1	0	A	179979882	C	A	179979882	2	1	7	1	0	0	0	0	0	0	0	1	14214	813	29	2		2	SESTD1	2	179979882	Silent	SNP	C	TCGA-BA-5151-01A-01D-1434-08	19394306	179979882	63219491	18	1781											
SSFA2	6744	broad.mit.edu	37	chr2	182767033	182767033	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgtagaatccaaattagAtagtgatttcaacatatcca	16	14	5	6	0	1	3	1	1	0	2	3	3	3	3	2	0	1	1	2	0	8	7			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:182767033A>G	ENST00000431877.2	+	8	1432	c.1253A>G	c.(1252-1254)gAt>gGt	p.D418G	SSFA2_ENST00000428267.2_Missense_Mutation_p.D265G|SSFA2_ENST00000409001.1_Missense_Mutation_p.D418G|SSFA2_ENST00000320370.7_Missense_Mutation_p.D418G	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	418						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCCAAATTAGATAGTGATTTC	0.383													15	84					0	0	0	0	G	182767033	A	G	182767033	3	3	7	1	0	0	0	0	1	0	0	0	15273	333	12	5	1283	5	SSFA2	2	182767033	Missense_Mutation	SNP	A	TCGA-BA-5151-01A-01D-1434-08	2787151	182767033	60432340	19	1782											
CASP8	841	broad.mit.edu	37	chr2	202149679	202149688	+	Frame_Shift_Del	DEL	CTCTCCCATG	CTCTCCCATG	-																															actgcttcatctgctgtatcCtctcccatggagacaagggc																										TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:202149679_202149688delCTCTCCCATG	ENST00000358485.4	+	8	1316_1325	c.1120_1129delCTCTCCCATG	c.(1120-1131)gafs	p.LSHG374fs	CASP8_ENST00000323492.7_Frame_Shift_Del_p.LSHG300fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.LSHG332fs|CASP8_ENST00000432109.2_Frame_Shift_Del_p.LSHG315fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.LSHG231fs|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	315					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGCTGTATCCTCTCCCATGGAGACAAGGG	0.486										HNSCC(4;0.00038)			41	199	---	---	---	---					-	202149688	CTCTCCCATG	-	202149679	7	5	7	1	0	1	0	1	0	0	0	0	2702	681	24	0	1250	0	CASP8	2	202149679	Frame_Shift_Del	DEL	CTCTCCCATG	TCGA-BA-5151-01A-01D-1434-08	19382646	202149679	41049694	20	1783											
NPPC	4880	broad.mit.edu	37	chr2	232790411	232790412	+	Frame_Shift_Ins	INS	-	-	G																															cggccagctcctctgccggcINSggggttcgcgggacctgtcc																										TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:232790411_232790412insG	ENST00000409852.1	-	2	257_258	c.104_105insC	c.(103-105)cccfs	p.P35fs	NPPC_ENST00000295440.2_Frame_Shift_Ins_p.P35fs	NM_024409.2	NP_077720.1	P23582	ANFC_HUMAN	natriuretic peptide C	35					cGMP biosynthetic process|growth plate cartilage chondrocyte differentiation|growth plate cartilage chondrocyte proliferation|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vasoconstriction		hormone activity						all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;9.35e-14)|BRCA - Breast invasive adenocarcinoma(100;0.00119)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00834)		CCTCTGCCGGCGGGGTTCGCGG	0.743													7	8	---	---	---	---					G	232790412	-	G	232790411	7	5	7	1	0	1	1	0	0	0	0	0	10664	755	27	0	279	0	NPPC	2	232790411	Frame_Shift_Ins	INS	-	TCGA-BA-5151-01A-01D-1434-08	30640732	232790411	10408962	21	1784											
GRM7	2917	broad.mit.edu	37	chr3	6903213	6903213	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcactcaatccggatcgaGggggacgtcaccctcggggg	7	5	15	14	5	2	0	2	0	0	0	5	3	3	2	3	5	0	1	3	5	1	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:6903213G>A	ENST00000486284.1	+	1	412	c.138G>A	c.(136-138)gaG>gaA	p.E46E	GRM7_ENST00000402647.2_Silent_p.E46E|GRM7_ENST00000357716.4_Silent_p.E46E|GRM7_ENST00000389336.4_Silent_p.E46E|GRM7_ENST00000403881.1_Silent_p.E46E	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	46					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			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)	TCCGGATCGAGGGGGACGTCA	0.692													3	12					0	0	0	0	A	6903213	G	A	6903213	2	1	7	1	0	0	0	0	0	0	0	1	6852	991	35	4		4	GRM7	3	6903213	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08		6903213	191119217	22	1785											
DAZL	1618	broad.mit.edu	37	chr3	16640104	16640104	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttcaggatttgcagtaGactgtaatttggaaagtaga	13	13	12	3	0	1	2	1	0	0	2	1	5	1	4	0	2	1	5	0	2	4	6			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:16640104G>T	ENST00000250863.8	-	2	352	c.63_splice	c.e2-1	p.S22_splice	DAZL_ENST00000399444.2_Splice_Site_p.S2_splice	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN	deleted in azoospermia-like	2					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						ATTTGCAGTAGACTGTAATTT	0.353													5	225					0.0215528	0.0225873	1	0	T	16640104	G	T	16640104	5	4	7	1	0	0	0	0	0	0	1	0	4279	956	33	2	922	2	DAZL	3	16640104	Splice_Site	SNP	G	TCGA-BA-5151-01A-01D-1434-08	9736891	16640104	181382326	23	1786											
FBXL2	25827	broad.mit.edu	37	chr3	33425643	33425643	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaggcctggagcgcctcGagctgtacgactgccagcag	7	5	15	14	4	0	0	0	0	0	0	1	4	0	1	4	2	5	3	4	2	1	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:33425643G>T	ENST00000484457.1	+	14	1205	c.1114G>T	c.(1114-1116)Gag>Tag	p.E372*	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_Nonsense_Mutation_p.E113*|FBXL2_ENST00000538892.1_Nonsense_Mutation_p.E304*|FBXL2_ENST00000542085.1_Nonsense_Mutation_p.E82*|FBXL2_ENST00000538181.1_Nonsense_Mutation_p.E288*|FBXL2_ENST00000507198.1_Nonsense_Mutation_p.E304*	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	372					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GGAGCGCCTCGAGCTGTACGA	0.592													3	118					1	1	1	0	T	33425643	G	T	33425643	4	4	7	1	0	0	0	0	0	1	0	0	5761	1059	37	3	1168	3	FBXL2	3	33425643	Nonsense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	16785539	33425643	164596787	24	1787											
ARHGAP31	57514	broad.mit.edu	37	chr3	119084258	119084258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtcacctcaaacatacaaCggctaaggtaagctaaaaga	18	6	8	9	1	2	1	2	0	0	1	2	2	2	1	1	2	4	3	1	2	7	4			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:119084258C>T	ENST00000264245.4	+	2	728	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	66	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AAACATACAACGGCTAAGGTA	0.438													17	100					0	0	0	0	T	119084258	C	T	119084258	3	4	7	1	0	0	0	0	1	0	0	0	882	527	19	1	202	1	ARHGAP31	3	119084258	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	85658615	119084258	78938172	25	1788											
PLXNA1	5361	broad.mit.edu	37	chr3	126708596	126708596	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaagctctccctgccgtGgctgctcaacaaggagctgg	7	7	14	13	1	2	0	1	0	1	0	3	1	2	1	2	4	5	5	2	4	3	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:126708596G>A	ENST00000251772.4	+	1	1160	c.1091G>A	c.(1090-1092)tGg>tAg	p.W364*	PLXNA1_ENST00000393409.2_Nonsense_Mutation_p.W387*			Q9UIW2	PLXA1_HUMAN	plexin A1	387	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCCCTGCCGTGGCTGCTCAAC	0.642													32	91					0	0	0	0	A	126708596	G	A	126708596	4	1	7	1	0	0	0	0	0	1	0	0	12191	1357	47	4	1162	4	PLXNA1	3	126708596	Nonsense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	7624338	126708596	71313834	26	1789											
FAIM	55179	broad.mit.edu	37	chr3	138351800	138351800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagatgatgggactgaaaCtcacttcagtatcgggaacc	12	10	11	8	1	2	3	2	2	0	1	3	5	2	5	1	2	2	2	1	2	4	3			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:138351800C>A	ENST00000338446.4	+	6	1204	c.521C>A	c.(520-522)aCt>aAt	p.T174N	FAIM_ENST00000464668.1_Missense_Mutation_p.T140N|FAIM_ENST00000393035.2_Missense_Mutation_p.T140N|FAIM_ENST00000393034.2_Missense_Mutation_p.T140N|FAIM_ENST00000360570.3_Missense_Mutation_p.T162N	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	140					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						GGGACTGAAACTCACTTCAGT	0.413													68	123					1.93348e-29	2.30259e-29	1	0	A	138351800	C	A	138351800	3	1	7	1	0	0	0	0	1	0	0	0	5416	565	20	4	587	4	FAIM	3	138351800	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	11643204	138351800	59670630	27	1790											
XRN1	54464	broad.mit.edu	37	chr3	142098954	142098954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtattaaagcatcaagattGggttcacatggaatgctgaa	14	12	10	5	0	2	2	2	1	0	1	2	3	2	3	0	2	2	4	0	2	6	4			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:142098954G>A	ENST00000264951.4	-	23	2802	c.2685C>T	c.(2683-2685)ccC>ccT	p.P895P	XRN1_ENST00000392981.2_Silent_p.P895P	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	895					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CATCAAGATTGGGTTCACATG	0.328													19	79					0	0	0	0	A	142098954	G	A	142098954	2	1	7	1	0	0	0	0	0	0	0	1	17555	1335	47	4		4	XRN1	3	142098954	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08	3747154	142098954	55923476	28	1791											
CHRD	8646	broad.mit.edu	37	chr3	184101432	184101432	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccaggaggacacacggTgagggctccaggtggagctg	9	4	17	11	1	0	1	0	1	0	0	1	4	1	4	3	6	2	2	3	6	0	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:184101432T>C	ENST00000204604.1	+	12	1686		c.e12+2		CHRD_ENST00000545352.1_Splice_Site|CHRD_ENST00000450923.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin						BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGACACACGGTGAGGGCTCCA	0.607													10	87					0	0	0	0	C	184101432	T	C	184101432	5	2	7	1	0	0	0	0	0	0	1	0	3401	1710	59	5	1488	5	CHRD	3	184101432	Splice_Site	SNP	T	TCGA-BA-5151-01A-01D-1434-08	42002478	184101432	13920998	29	1792											
CPN2	1370	broad.mit.edu	37	chr3	194062951	194062951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggctggaagagcctcctggGcagggcctggagctggttcc	6	7	17	11	0	0	1	0	0	0	1	2	3	2	3	4	6	2	4	4	6	1	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:194062951G>C	ENST00000323830.3	-	2	570	c.481C>G	c.(481-483)Ccc>Gcc	p.P161A	CPN2_ENST00000429275.1_Missense_Mutation_p.P161A	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	161					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AGCCTCCTGGGCAGGGCCTGG	0.637													11	93					0	0	0	0	C	194062951	G	C	194062951	3	2	7	1	0	0	0	0	1	0	0	0	3840	1203	42	4	1160	4	CPN2	3	194062951	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	9961519	194062951	3959479	30	1793											
ENPEP	2028	broad.mit.edu	37	chr4	111430849	111430849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggcactggtgccatggaGaactggggactcatcacgta	9	10	13	9	1	2	1	2	0	0	1	2	3	2	2	1	5	2	2	1	5	2	2			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr4:111430849G>A	ENST00000265162.5	+	5	1422	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	360	Substrate binding (By similarity).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GTGCCATGGAGAACTGGGGAC	0.443													25	132					0	0	0	0	A	111430849	G	A	111430849	2	1	7	1	0	0	0	0	0	0	0	1	5166	933	33	2		2	ENPEP	4	111430849	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08		111430849	79723427	31	1794											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741347	140741347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgccaacgtgagcctgCgcgtgttagtgggcgacctc	6	8	14	13	5	1	1	1	1	0	0	2	2	1	1	3	1	4	1	3	1	2	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr5:140741347C>T	ENST00000522605.1	+	1	1645	c.1645C>T	c.(1645-1647)Cgc>Tgc	p.R549C	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGAGCCTGCGCGTGTTAGT	0.697													21	103					0	0	0	0	T	140741347	C	T	140741347	3	4	7	1	0	0	0	0	1	0	0	0	11634	768	27	1	1647	1	PCDHGB2	5	140741347	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08		140741347	40173913	32	1795											
HAVCR1	26762	broad.mit.edu	37	chr5	156456763	156456763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagtccgtggcataaagaCtattctcaatgtagatattg	12	14	8	7	1	1	2	1	0	1	2	3	2	2	2	1	1	0	2	1	1	7	7			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr5:156456763C>T	ENST00000339252.3	-	8	1608	c.1076G>A	c.(1075-1077)aGt>aAt	p.S359N	HAVCR1_ENST00000522693.1_Missense_Mutation_p.V348I|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000523175.1_Missense_Mutation_p.S359N|HAVCR1_ENST00000425854.1_Missense_Mutation_p.V348I|HAVCR1_ENST00000544197.1_Missense_Mutation_p.S359N	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	354					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCATAAAGACTATTCTCAAT	0.408													15	61					0	0	0	0	T	156456763	C	T	156456763	3	4	7	1	0	0	0	0	1	0	0	0	7023	565	20	4	22	4	HAVCR1	5	156456763	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	15715416	156456763	24458497	33	1796											
GABRG2	2566	broad.mit.edu	37	chr5	161524781	161524781	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactttcttcagaaattcCaaaaaagctgatgcacactg	15	10	6	10	0	2	2	1	1	1	1	3	3	3	2	1	0	2	2	1	0	4	3			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr5:161524781C>T	ENST00000356592.3	+	4	925	c.465C>T	c.(463-465)tcC>tcT	p.S155S	GABRG2_ENST00000393933.4_Silent_p.S60S|GABRG2_ENST00000361925.4_Silent_p.S155S|GABRG2_ENST00000414552.2_Silent_p.S155S	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	155					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TCAGAAATTCCAAAAAAGCTG	0.428													38	165					0	0	0	0	T	161524781	C	T	161524781	2	4	7	1	0	0	0	0	0	0	0	1	6220	581	21	4		4	GABRG2	5	161524781	Silent	SNP	C	TCGA-BA-5151-01A-01D-1434-08	5068018	161524781	19390479	34	1797											
RPL26L1	51121	broad.mit.edu	37	chr5	172386987	172386987	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatccccgctctccaaggaGctgcggcagaagtacaatgt	10	8	10	13	2	2	1	1	0	1	1	4	2	3	2	3	2	3	4	3	2	4	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr5:172386987G>C	ENST00000521476.1	+	2	235	c.111G>C	c.(109-111)gaG>gaC	p.E37D	RPL26L1_ENST00000519239.1_Missense_Mutation_p.E37D|RPL26L1_ENST00000519974.1_Missense_Mutation_p.E37D|RPL26L1_ENST00000265100.2_Missense_Mutation_p.E37D			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	37					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTCCAAGGAGCTGCGGCAGA	0.602													37	180					0	0	0	0	C	172386987	G	C	172386987	3	2	7	1	0	0	0	0	1	0	0	0	13659	962	34	4	113	4	RPL26L1	5	172386987	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	10862206	172386987	8528273	35	1798											
RNF44	22838	broad.mit.edu	37	chr5	175958006	175958006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacaggcagctgctgcatgGtgcacgcctggataagctgc	8	7	14	12	1	0	0	0	0	0	0	0	1	0	1	1	3	6	7	1	3	1	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr5:175958006G>C	ENST00000274811.4	-	5	1006	c.482C>G	c.(481-483)aCc>aGc	p.T161S	RNF44_ENST00000537487.1_Missense_Mutation_p.T80S	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	161	Pro-rich.						zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTGCATGGTGCACGCCTG	0.667													7	20					0	0	0	0	C	175958006	G	C	175958006	3	2	7	1	0	0	0	0	1	0	0	0	13581	1261	44	4	844	4	RNF44	5	175958006	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	3571019	175958006	4957254	36	1799											
GPLD1	2822	broad.mit.edu	37	chr6	24437400	24437400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaatcgggagaagcggCggtctccgctgaaggtgctg	9	6	15	11	4	1	2	0	1	1	1	3	3	1	2	2	4	2	2	2	4	3	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr6:24437400C>T	ENST00000230036.1	-	21	2248	c.2138G>A	c.(2137-2139)cGc>cAc	p.R713H		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	713						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GGAGAAGCGGCGGTCTCCGCT	0.562													22	116					0	0	0	0	T	24437400	C	T	24437400	3	4	7	1	0	0	0	0	1	0	0	0	6663	768	27	1	404	1	GPLD1	6	24437400	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08		24437400	146677667	37	1800											
MAS1L	116511	broad.mit.edu	37	chr6	29455445	29455445	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcacagccttgggggCaatgatattcaagggcaggg	11	6	15	9	0	1	1	1	1	0	0	1	2	1	1	2	4	2	3	2	4	3	3			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr6:29455445C>A	ENST00000377127.3	-	1	293	c.235G>T	c.(235-237)Gcc>Tcc	p.A79S		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	79						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GCCTTGGGGGCAATGATATTC	0.512													24	67					3.08376e-08	3.39473e-08	1	0	A	29455445	C	A	29455445	3	1	7	1	0	0	0	0	1	0	0	0	9390	710	25	4	903	4	MAS1L	6	29455445	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	5018045	29455445	141659622	38	1801											
TULP1	7287	broad.mit.edu	37	chr6	35467758	35467758	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccctcaggtactcacGgtcatcagcgtggacaatct	8	9	11	13	2	5	0	4	0	1	0	5	1	5	1	1	4	2	1	1	4	2	1	rs138772407	byFrequency	TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr6:35467758G>A	ENST00000229771.6	-	14	1574	c.1495_splice	c.e14+1	p.P499_splice	TULP1_ENST00000322263.4_Splice_Site_p.P446_splice	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	499					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGTACTCACGGTCATCAGCG	0.587													71	107					0	0	0	0	A	35467758	G	A	35467758	5	1	7	1	0	0	0	0	0	0	1	0	16869	1130	39	1	141	1	TULP1	6	35467758	Splice_Site	SNP	G	TCGA-BA-5151-01A-01D-1434-08	6012313	35467758	135647309	39	1802											
DST	667	broad.mit.edu	37	chr6	56489977	56489977	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaataatgagatctgctGaactctgcattcttcggcgt	9	14	9	9	2	3	3	0	3	3	1	4	4	3	3	0	1	3	2	0	1	3	4			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr6:56489977G>T	ENST00000370754.5	-	34	4708	c.4709C>A	c.(4708-4710)tCa>tAa	p.S1570*	DST_ENST00000312431.6_Nonsense_Mutation_p.S1392*|DST_ENST00000421834.2_Nonsense_Mutation_p.S1392*|DST_ENST00000370769.4_Nonsense_Mutation_p.S1392*|DST_ENST00000370788.2_Nonsense_Mutation_p.S1392*|DST_ENST00000446842.2_Nonsense_Mutation_p.S1066*|DST_ENST00000361203.3_Nonsense_Mutation_p.S1392*|DST_ENST00000370765.6_Nonsense_Mutation_p.S1066*|DST_ENST00000518935.1_Nonsense_Mutation_p.S1066*|DST_ENST00000244364.6_Nonsense_Mutation_p.S1066*			Q03001	DYST_HUMAN	dystonin	1392					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGATCTGCTGAACTCTGCAT	0.363													63	273					4.60343e-24	5.38437e-24	1	0	T	56489977	G	T	56489977	4	4	7	1	0	0	0	0	0	1	0	0	4819	1294	45	2	17214	2	DST	6	56489977	Nonsense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	21022219	56489977	114625090	40	1803											
PRDM1	639	broad.mit.edu	37	chr6	106552717	106552717	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcacaaacacagagcagtCtaaagcaaccgagcactgag	17	3	9	12	1	1	2	0	1	1	1	1	3	1	2	1	0	6	4	1	0	4	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr6:106552717C>T	ENST00000369096.4	+	5	916	c.682C>T	c.(682-684)Cta>Tta	p.L228L	PRDM1_ENST00000369089.3_Silent_p.L94L|PRDM1_ENST00000369091.2_Silent_p.L192L	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	228					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ACAGAGCAGTCTAAAGCAACC	0.448			"D, N, Mis, F, S"		DLBCL								70	332					0	0	0	0	T	106552717	C	T	106552717	2	4	7	1	0	0	0	0	0	0	0	1	12530	912	32	2		2	PRDM1	6	106552717	Silent	SNP	C	TCGA-BA-5151-01A-01D-1434-08	50062740	106552717	64562350	41	1804											
ARID1B	57492	broad.mit.edu	37	chr6	157528080	157528080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcctctgtgtaccatcgcGcactggcaggactcgctggc	6	9	11	15	3	1	0	0	0	1	0	4	1	2	1	2	3	1	4	2	3	1	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr6:157528080G>A	ENST00000346085.5	+	20	5806	c.5805G>A	c.(5803-5805)gcG>gcA	p.A1935A	ARID1B_ENST00000350026.5_Silent_p.A1922A|ARID1B_ENST00000367148.1_Silent_p.A1975A|ARID1B_ENST00000275248.4_Silent_p.A1917A	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1922					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTACCATCGCGCACTGGCAGG	0.537													37	147					0	0	0	0	A	157528080	G	A	157528080	2	1	7	1	0	0	0	0	0	0	0	1	916	1074	38	1		1	ARID1B	6	157528080	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08	50975363	157528080	13586987	42	1805											
COBL	23242	broad.mit.edu	37	chr7	51203960	51203960	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccctgagatgctgcccagCgagagggatggacccagcgt	9	5	14	13	2	0	2	0	1	0	2	0	6	0	4	4	2	4	1	4	2	0	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr7:51203960C>T	ENST00000395542.2	-	7	1111	c.927G>A	c.(925-927)tcG>tcA	p.S309S	COBL_ENST00000395540.2_Silent_p.S284S|COBL_ENST00000441453.1_Silent_p.S284S|COBL_ENST00000265136.7_Silent_p.S284S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	284	Pro-rich.							p.S284S(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGCTGCCCAGCGAGAGGGATG	0.577													14	69					0	0	0	0	T	51203960	C	T	51203960	2	4	7	1	0	0	0	0	0	0	0	1	3683	755	27	1		1	COBL	7	51203960	Silent	SNP	C	TCGA-BA-5151-01A-01D-1434-08		51203960	107934703	43	1806											
MUC17	140453	broad.mit.edu	37	chr7	100696279	100696279	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctcagctgcgtgaccacGgaaactcactggtacagtgg	10	8	11	12	2	2	1	2	1	1	0	3	2	2	2	1	3	4	2	1	3	2	1	rs146965923		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr7:100696279G>A	ENST00000306151.4	+	10	13180	c.13116G>A	c.(13114-13116)acG>acA	p.T4372T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4372						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCGTGACCACGGAAACTCACT	0.602													19	102					0	0	0	0	A	100696279	G	A	100696279	2	1	7	1	0	0	0	0	0	0	0	1	10044	1103	39	1		1	MUC17	7	100696279	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08	49492319	100696279	58442384	44	1807											
SLC26A4	5172	broad.mit.edu	37	chr7	107330644	107330644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaccactgctctttccCgcacggccgtccaggagagc	6	7	11	17	3	1	1	0	0	1	1	3	2	3	1	5	3	2	2	5	3	0	1	rs147952620	by1000genomes	TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr7:107330644C>T	ENST00000265715.3	+	10	1449	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	409			R -> H (in PDS).|R -> P (in DFNB4).		regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGCTCTTTCCCGCACGGCCGT	0.493									Pendred syndrome				42	145					0	0	0	0	T	107330644	C	T	107330644	3	4	7	1	0	0	0	0	1	0	0	0	14607	652	23	1	1259	1	SLC26A4	7	107330644	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	6634365	107330644	51808019	45	1808											
GCC1	79571	broad.mit.edu	37	chr7	127222240	127222240	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttttgaggtactccagaTtggctccctccctgctctgg	4	15	10	12	0	1	2	0	1	1	1	4	2	4	2	3	3	2	4	3	3	1	4			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr7:127222240T>C	ENST00000321407.2	-	2	2580	c.2156A>G	c.(2155-2157)aAt>aGt	p.N719S		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	719	GRIP.					Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTACTCCAGATTGGCTCCCTC	0.567													43	173					0	0	0	0	C	127222240	T	C	127222240	3	2	7	1	0	0	0	0	1	0	0	0	6334	1493	52	5	175	5	GCC1	7	127222240	Missense_Mutation	SNP	T	TCGA-BA-5151-01A-01D-1434-08	19891596	127222240	31916423	46	1809											
SSPO	23145	broad.mit.edu	37	chr7	149510810	149510810	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgcagccgggtcactgCagctgcctggacctgctgac	5	8	14	14	2	1	1	1	1	0	0	1	2	1	2	3	2	7	4	3	2	0	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr7:149510810C>T	ENST00000378016.2	+	0	10095							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGTCACTGCAGCTGCCTGG	0.697													13	39					0	0	0	0	T	149510810	C	T	149510810	1	4	7	0	1	0	0	0	0	0	0	0	15279	718	25	4		4	SSPO	7	149510810	RNA	SNP	C	TCGA-BA-5151-01A-01D-1434-08	22288570	149510810	9627853	47	1810											
USP17L2	377630	broad.mit.edu	37	chr8	11996046	11996046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcccccaccgcagcaGgtctcctgctactcagagga	8	5	10	18	1	2	1	1	0	1	1	3	2	2	2	5	2	4	3	5	2	1	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr8:11996046G>A	ENST00000333796.3	-	1	540	c.224C>T	c.(223-225)cCt>cTt	p.P75L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	75					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CACCGCAGCAGGTCTCCTGCT	0.572													15	346					0	0	0	0	A	11996046	G	A	11996046	3	1	7	1	0	0	0	0	1	0	0	0	17144	1000	35	4	1372	4	USP17L2	8	11996046	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08		11996046	134367976	48	1811											
NRG1	3084	broad.mit.edu	37	chr8	32620826	32620826	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaactcatcttagatcttcTtccattccccatttgggctt	7	16	5	13	0	4	1	1	0	3	1	6	1	6	1	3	1	1	2	3	1	2	6			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr8:32620826T>A	ENST00000521670.1	+	12	1467	c.1359T>A	c.(1357-1359)tcT>tcA	p.S453S	NRG1_ENST00000356819.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287840.5_Intron			Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TTAGATCTTCTTCCATTCCCC	0.418													40	220					0	0	0	0	A	32620826	T	A	32620826	2	1	7	1	0	0	0	0	0	0	0	1	10718	1596	56	5		5	NRG1	8	32620826	Silent	SNP	T	TCGA-BA-5151-01A-01D-1434-08	20624780	32620826	113743196	49	1812											
RIMS2	9699	broad.mit.edu	37	chr8	104955091	104955091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcattgccacttcccCacccttctccatatatgcca	7	14	2	18	0	3	0	1	0	2	0	6	0	4	0	6	0	2	0	6	0	2	6			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr8:104955091C>A	ENST00000507740.1	+	11	2250	c.2014C>A	c.(2014-2016)Cac>Aac	p.H672N	RIMS2_ENST00000436393.2_Missense_Mutation_p.H658N|RIMS2_ENST00000406091.3_Missense_Mutation_p.H880N|RIMS2_ENST00000262231.10_Missense_Mutation_p.H719N	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	942	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCCACTTCCCCACCCTTCTCC	0.388										HNSCC(12;0.0054)			22	130					5.45024e-15	6.05069e-15	1	0	A	104955091	C	A	104955091	3	1	7	1	0	0	0	0	1	0	0	0	13453	594	21	4	2818	4	RIMS2	8	104955091	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	72334265	104955091	41408931	50	1813											
CSMD3	114788	broad.mit.edu	37	chr8	113662425	113662425	+	Frame_Shift_Del	DEL	T	T	-																															gtggatgactccaccagtggTttttttcgcatagaaggggc																										TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr8:113662425delT	ENST00000297405.5	-	19	3402	c.3158delA	c.(3157-3159)acfs	p.N1053fs	CSMD3_ENST00000343508.3_Frame_Shift_Del_p.N1013fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.N949fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.N1053fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1053	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCACCAGTGGTTTTTTTCGCA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	318	---	---	---	---					-	113662425	T	-	113662425	7	5	7	1	0	1	0	1	0	0	0	0	3978	1725	60	0	8177	0	CSMD3	8	113662425	Frame_Shift_Del	DEL	T	TCGA-BA-5151-01A-01D-1434-08	8707334	113662425	32701597	51	1814											
FAM83H	286077	broad.mit.edu	37	chr8	144810795	144810795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaagcggctcggactgcGcgaagaggatgcggaactcc	10	4	15	12	5	0	1	0	0	0	1	2	5	1	4	1	4	4	2	1	4	3	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr8:144810795G>A	ENST00000388913.3	-	5	961	c.836C>T	c.(835-837)gCg>gTg	p.A279V		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	279					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCGGACTGCGCGAAGAGGAT	0.672													4	44					0	0	0	0	A	144810795	G	A	144810795	3	1	7	1	0	0	0	0	1	0	0	0	5686	1087	38	1	2707	1	FAM83H	8	144810795	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	31148370	144810795	1553227	52	1815											
GADD45G	10912	broad.mit.edu	37	chr9	92220945	92220945	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagcctgttttgcgaggAgagccgcagcgttaacgact	8	9	13	11	4	1	1	1	0	0	1	1	4	1	1	2	1	5	4	2	1	1	3			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr9:92220945A>C	ENST00000252506.6	+	4	540	c.431A>C	c.(430-432)gAg>gCg	p.E144A	GADD45G_ENST00000375769.1_Missense_Mutation_p.E126A|GADD45G_ENST00000494726.1_3'UTR	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	144					activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding			lung(2)	2						TTTTGCGAGGAGAGCCGCAGC	0.682													4	30					0	0	0	0	C	92220945	A	C	92220945	3	2	7	1	0	0	0	0	1	0	0	0	6231	304	11	5	445	5	GADD45G	9	92220945	Missense_Mutation	SNP	A	TCGA-BA-5151-01A-01D-1434-08		92220945	48992486	53	1816											
NCBP1	4686	broad.mit.edu	37	chr9	100424349	100424349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggattcagttttaacccattGaaaatagaagtctttgtaca	14	14	7	6	0	2	2	1	1	1	1	2	3	2	3	1	1	2	2	1	1	6	7			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr9:100424349G>A	ENST00000375147.3	+	17	1882	c.1626G>A	c.(1624-1626)ttG>ttA	p.L542L		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	542					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TTAACCCATTGAAAATAGAAG	0.373													12	96					0	0	0	0	A	100424349	G	A	100424349	2	1	7	1	0	0	0	0	0	0	0	1	10281	1281	45	2		2	NCBP1	9	100424349	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08	8203404	100424349	40789082	54	1817											
REXO4	57109	broad.mit.edu	37	chr9	136279920	136279920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgttccactggccttggtgCgaggtactggcgccctcctg	3	11	13	14	2	0	0	0	0	0	0	2	1	2	0	4	4	2	2	4	4	1	3			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr9:136279920C>A	ENST00000371942.3	-	2	636	c.437G>T	c.(436-438)cGc>cTc	p.R146L	ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Missense_Mutation_p.A87S|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	146						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		GGCCTTGGTGCGAGGTACTGG	0.542													4	181					1	1	1	0	A	136279920	C	A	136279920	3	1	7	1	0	0	0	0	1	0	0	0	13325	768	27	3	859	3	REXO4	9	136279920	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	35855571	136279920	4933511	55	1818											
CDC123	8872	broad.mit.edu	37	chr10	12259436	12259436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttctgcttttcaagagttCcgatttcatcactcgtgact	7	17	6	11	2	4	2	3	1	1	1	6	3	5	2	1	0	1	2	1	0	1	5			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr10:12259436C>T	ENST00000281141.4	+	6	690	c.410C>T	c.(409-411)tCc>tTc	p.S137F	CDC123_ENST00000378900.2_Missense_Mutation_p.S137F|CDC123_ENST00000455773.3_3'UTR	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	137					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						TTCAAGAGTTCCGATTTCATC	0.368													14	141					0	0	0	0	T	12259436	C	T	12259436	3	4	7	1	0	0	0	0	1	0	0	0	3084	855	30	2	432	2	CDC123	10	12259436	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08		12259436	123275311	56	1819											
C10orf111	221060	broad.mit.edu	37	chr10	15138710	15138710	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaactcttactgcctttctCttttcgggctcaagattccc	6	15	6	14	1	3	1	1	0	2	1	6	1	4	1	2	1	3	2	2	1	3	5			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr10:15138710C>T	ENST00000378207.3	-	2	387	c.114G>A	c.(112-114)aaG>aaA	p.K38K		NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	38						integral to membrane				lung(5)|upper_aerodigestive_tract(1)	6						CTGCCTTTCTCTTTTCGGGCT	0.498													36	268					0	0	0	0	T	15138710	C	T	15138710	2	4	7	1	0	0	0	0	0	0	0	1	1593	912	32	2		2	C10orf111	10	15138710	Silent	SNP	C	TCGA-BA-5151-01A-01D-1434-08	2879274	15138710	120396037	57	1820											
ARID5B	84159	broad.mit.edu	37	chr10	63852230	63852230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaccggaaaatgagccCgcagaacattggggcggcgc	10	4	14	13	4	0	2	0	1	0	1	0	3	0	3	3	4	3	2	3	4	3	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr10:63852230C>T	ENST00000279873.7	+	10	3418	c.3008C>T	c.(3007-3009)cCg>cTg	p.P1003L	ARID5B_ENST00000309334.5_Missense_Mutation_p.P760L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1003					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	p.P1003Q(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AAAATGAGCCCGCAGAACATT	0.552													38	207					0	0	0	0	T	63852230	C	T	63852230	3	4	7	1	0	0	0	0	1	0	0	0	924	652	23	1	3046	1	ARID5B	10	63852230	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	48713520	63852230	71682517	58	1821											
MYPN	84665	broad.mit.edu	37	chr10	69948722	69948722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatagagtttcgcttggaaCgtactcctgttgatgaatca	12	13	9	7	2	1	3	1	2	0	1	3	4	2	4	1	1	2	4	1	1	5	5			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr10:69948722C>T	ENST00000358913.5	+	13	3252	c.2764C>T	c.(2764-2766)Cgt>Tgt	p.R922C	MYPN_ENST00000354393.2_Missense_Mutation_p.R647C|MYPN_ENST00000540630.1_Missense_Mutation_p.R922C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	922						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TCGCTTGGAACGTACTCCTGT	0.413													15	63					0	0	0	0	T	69948722	C	T	69948722	3	4	7	1	0	0	0	0	1	0	0	0	10168	536	19	1	2810	1	MYPN	10	69948722	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	6096492	69948722	65586025	59	1822											
TET1	80312	broad.mit.edu	37	chr10	70446282	70446282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtcctggcaccccgccGcaaaaaaagaacgtgtttca	12	6	10	13	4	1	1	1	0	0	1	2	2	2	1	4	2	1	3	4	2	4	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr10:70446282G>A	ENST00000373644.4	+	11	5431	c.5222G>A	c.(5221-5223)cGc>cAc	p.R1741H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1741					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GCACCCCGCCGCAAAAAAAGA	0.498													4	120					0	0	0	0	A	70446282	G	A	70446282	3	1	7	1	0	0	0	0	1	0	0	0	15863	1087	38	1	5260	1	TET1	10	70446282	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	497560	70446282	65088465	60	1823											
ZCCHC24	219654	broad.mit.edu	37	chr10	81154151	81154151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtactcgccgaagcagcGctttttgccctggtatggag	6	12	12	11	3	0	0	0	0	0	0	1	2	0	1	2	2	4	4	2	2	3	5			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr10:81154151G>A	ENST00000372336.3	-	3	679	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.A105V|RP11-342M3.5_ENST00000438554.2_RNA	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	165							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						CCGAAGCAGCGCTTTTTGCCC	0.567													42	174					0	0	0	0	A	81154151	G	A	81154151	3	1	7	1	0	0	0	0	1	0	0	0	17683	1087	38	1	240	1	ZCCHC24	10	81154151	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	10707869	81154151	54380596	61	1824											
ZNF518A	9849	broad.mit.edu	37	chr10	97917661	97917661	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagggaaagcaagttcaGaaaaagaaatgactttgata	18	10	9	4	0	2	4	2	2	0	2	2	5	2	5	0	1	1	2	0	1	6	4			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr10:97917661G>T	ENST00000534948.1	+	0	2439							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AGCAAGTTCAGAAAAAGAAAT	0.323													36	223					4.65686e-17	5.30478e-17	1	0	T	97917661	G	T	97917661	1	4	7	0	1	0	0	0	0	0	0	0	18057	943	33	2		2	ZNF518A	10	97917661	RNA	SNP	G	TCGA-BA-5151-01A-01D-1434-08	16763510	97917661	37617086	62	1825											
HMX3	340784	broad.mit.edu	37	chr10	124896943	124896943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatctgagcagctcggagcGagccggcctggccgcgtccc	5	6	14	16	5	1	1	0	1	1	0	3	3	2	2	4	3	4	2	4	3	1	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr10:124896943G>A	ENST00000357878.5	+	2	859	c.770G>A	c.(769-771)cGa>cAa	p.R257Q		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	257					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AGCTCGGAGCGAGCCGGCCTG	0.647													12	65					0	0	0	0	A	124896943	G	A	124896943	3	1	7	1	0	0	0	0	1	0	0	0	7298	1058	37	1	776	1	HMX3	10	124896943	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	26979282	124896943	10637804	63	1826											
PPFIBP2	8495	broad.mit.edu	37	chr11	7670058	7670058	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattaagcacccactccacAggaagaagcttgttttagca	14	9	8	10	0	0	1	0	0	0	1	1	3	1	2	2	1	3	4	2	1	5	4			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr11:7670058A>T	ENST00000299492.4	+	19	2213	c.1825A>T	c.(1825-1827)Agg>Tgg	p.R609W	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.R466W|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.R497W|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.R451W	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	609	SAM 1.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCCACTCCACAGGAAGAAGCT	0.448													57	233					0	0	0	0	T	7670058	A	T	7670058	3	4	7	1	0	0	0	0	1	0	0	0	12385	179	7	5	1895	5	PPFIBP2	11	7670058	Missense_Mutation	SNP	A	TCGA-BA-5151-01A-01D-1434-08		7670058	127336458	64	1827											
ELP4	26610	broad.mit.edu	37	chr11	31671745	31671745	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagacttagcttttaaattAaaaaggaagctattcaccat	18	12	5	6	0	1	1	1	0	0	1	1	2	1	2	1	1	2	2	1	1	9	6			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr11:31671745A>G	ENST00000395934.2	+	9	1126	c.1119A>G	c.(1117-1119)ttA>ttG	p.L373L	Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000350638.5_Silent_p.L373L|ELP4_ENST00000379163.5_Silent_p.L374L			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	373					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CTTTTAAATTAAAAAGGAAGC	0.269													16	69					0	0	0	0	G	31671745	A	G	31671745	2	3	7	1	0	0	0	0	0	0	0	1	5120	359	13	5		5	ELP4	11	31671745	Silent	SNP	A	TCGA-BA-5151-01A-01D-1434-08	24001687	31671745	103334771	65	1828											
LRP4	4038	broad.mit.edu	37	chr11	46903411	46903411	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggcatccatgccagctcGttcaatcttggggctcgcac	7	10	11	13	2	2	1	1	1	1	0	5	1	3	1	2	3	2	5	2	3	1	2			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr11:46903411G>A	ENST00000378623.1	-	20	2898	c.2656C>T	c.(2656-2658)Cga>Tga	p.R886*		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	886					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATGCCAGCTCGTTCAATCTTG	0.507													25	85					0	0	0	0	A	46903411	G	A	46903411	4	1	7	1	0	0	0	0	0	1	0	0	9023	1153	40	1	3137	1	LRP4	11	46903411	Nonsense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	15231666	46903411	88103105	66	1829											
KDELC2	143888	broad.mit.edu	37	chr11	108350193	108350193	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatatctgtaagcagccacGgtcccatccacatttacttg	10	11	8	12	1	1	0	0	0	1	0	3	1	3	1	3	2	3	2	3	2	3	5			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr11:108350193G>T	ENST00000434945.2	-	5	1262	c.960C>A	c.(958-960)acC>acA	p.T320T	KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000375648.1_Silent_p.T320T|KDELC2_ENST00000323468.5_Silent_p.T376T			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	376						endoplasmic reticulum lumen		p.T376T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		AAGCAGCCACGGTCCCATCCA	0.408													13	72					2.39187e-15	2.67808e-15	1	0	T	108350193	G	T	108350193	2	4	7	1	0	0	0	0	0	0	0	1	8171	1103	39	3		3	KDELC2	11	108350193	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08	61446782	108350193	26656323	67	1830											
GLI1	2735	broad.mit.edu	37	chr12	57862003	57862003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgactgtgccagagggtgCcatggtgagagagcccaggc	9	6	16	10	0	0	4	0	2	0	2	0	5	0	4	3	3	3	0	3	3	0	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr12:57862003C>T	ENST00000228682.2	+	10	1395	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V	GLI1_ENST00000543426.1_Missense_Mutation_p.A307V|GLI1_ENST00000546141.1_Missense_Mutation_p.A394V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	435					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCAGAGGGTGCCATGGTGAGA	0.582													3	57					0	0	0	0	T	57862003	C	T	57862003	3	4	7	1	0	0	0	0	1	0	0	0	6488	739	26	4	1338	4	GLI1	12	57862003	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08		57862003	75989892	68	1831											
KIF5A	3798	broad.mit.edu	37	chr12	57968982	57968982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccggcagctggagaaccTccaggtggagtgtcaccgca	8	6	15	12	2	1	1	1	0	0	1	2	3	2	2	4	4	3	3	4	4	1	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr12:57968982T>C	ENST00000455537.2	+	16	2106	c.1832T>C	c.(1831-1833)cTc>cCc	p.L611P	KIF5A_ENST00000286452.5_Missense_Mutation_p.L522P	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	611					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTGGAGAACCTCCAGGTGGAG	0.562													10	40					0	0	0	0	C	57968982	T	C	57968982	3	2	7	1	0	0	0	0	1	0	0	0	8356	1551	54	5	1894	5	KIF5A	12	57968982	Missense_Mutation	SNP	T	TCGA-BA-5151-01A-01D-1434-08	106979	57968982	75882913	69	1832											
KNTC1	9735	broad.mit.edu	37	chr12	123103082	123103082	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgttctgagagtctcatcGctgtcctcgagtaagcaaaa	11	12	9	9	2	2	1	1	1	2	1	6	3	3	1	1	0	1	4	1	0	3	3			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr12:123103082G>A	ENST00000436959.3	+	0	1753				KNTC1_ENST00000450485.2_Missense_Mutation_p.A972T|KNTC1_ENST00000333479.7_Missense_Mutation_p.A2047T|KNTC1_ENST00000537348.1_3'UTR			P50748	KNTC1_HUMAN	kinetochore associated 1						cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GAGTCTCATCGCTGTCCTCGA	0.338													19	57					0	0	0	0	A	123103082	G	A	123103082	1	1	7	1	0	0	0	0	0	0	0	0	8480	1087	38	1		1	KNTC1	12	123103082	Translation_Start_Site	SNP	G	TCGA-BA-5151-01A-01D-1434-08	65134100	123103082	10748813	70	1833											
FAM101A	144347	broad.mit.edu	37	chr12	124798975	124798975	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccggaccaccctgcactgCagcctgggccggcccagccg	5	5	12	19	3	0	0	0	0	0	0	1	1	1	1	7	3	4	2	7	3	0	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr12:124798975C>A	ENST00000389727.3	+	3	555	c.555C>A	c.(553-555)tgC>tgA	p.C185*	FAM101A_ENST00000338359.4_Nonsense_Mutation_p.C104*|FAM101A_ENST00000324038.3_Nonsense_Mutation_p.C104*|FAM101A_ENST00000546355.1_Nonsense_Mutation_p.C104*			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	185										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCCTGCACTGCAGCCTGGGCC	0.706													11	45					0.000673444	0.000717245	1	0	A	124798975	C	A	124798975	4	1	7	1	0	0	0	0	0	1	0	0	5421	718	25	4	318	4	FAM101A	12	124798975	Nonsense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	1695893	124798975	9052920	71	1834											
RIMBP2	23504	broad.mit.edu	37	chr12	130921701	130921701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaggagctcggggggaaCggcagcaactgcagagtcca	11	3	15	12	2	0	1	0	0	0	1	2	3	1	3	2	5	5	4	2	5	2	0	rs139344487	byFrequency	TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr12:130921701C>T	ENST00000261655.4	-	10	1904	c.1741G>A	c.(1741-1743)Gtt>Att	p.V581I	RIMBP2_ENST00000536002.1_Missense_Mutation_p.V489I|RIMBP2_ENST00000535703.1_Missense_Mutation_p.V489I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	581						cell junction|synapse		p.V581I(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCGGGGGGAACGGCAGCAACT	0.662													7	8					0	0	0	0	T	130921701	C	T	130921701	3	4	7	1	0	0	0	0	1	0	0	0	13446	536	19	1	1457	1	RIMBP2	12	130921701	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	6122726	130921701	2930194	72	1835											
RCBTB2	1102	broad.mit.edu	37	chr13	49076887	49076887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggcgccacgtgacggCgggcgtggcaaagcaggcaa	10	2	19	10	5	0	1	0	1	0	0	0	3	0	2	1	6	1	3	1	6	2	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr13:49076887C>T	ENST00000344532.3	-	11	1513	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	RCBTB2_ENST00000430805.2_Missense_Mutation_p.A369T|RCBTB2_ENST00000544904.1_3'UTR|RCBTB2_ENST00000544492.1_Missense_Mutation_p.A90T	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	364							Ran guanyl-nucleotide exchange factor activity	p.A364S(2)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CACGTGACGGCGGGCGTGGCA	0.592													27	119					0	0	0	0	T	49076887	C	T	49076887	3	4	7	1	0	0	0	0	1	0	0	0	13254	768	27	1	585	1	RCBTB2	13	49076887	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08		49076887	66092991	73	1836											
DOCK9	23348	broad.mit.edu	37	chr13	99554563	99554563	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcggatactgcatggcGgcttcatgaaggatgccctt	7	12	12	10	2	1	1	1	1	0	0	2	3	1	3	1	4	4	3	1	4	2	4			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr13:99554563G>A	ENST00000376460.1	-	12	1439	c.1359C>T	c.(1357-1359)gcC>gcT	p.A453A	DOCK9_ENST00000339416.2_Silent_p.A454A|DOCK9_ENST00000448493.2_Silent_p.A465A|DOCK9_ENST00000442173.1_Silent_p.A453A	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	454					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTGCATGGCGGCTTCATGAA	0.532													15	49					0	0	0	0	A	99554563	G	A	99554563	2	1	7	1	0	0	0	0	0	0	0	1	4730	1103	39	1		1	DOCK9	13	99554563	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08	50477676	99554563	15615315	74	1837											
RAB2B	84932	broad.mit.edu	37	chr14	21936559	21936559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccatgttggaactagagtGctgccgggcatcctctaacc	10	9	10	12	1	1	1	0	0	1	1	2	2	2	2	4	2	5	3	4	2	4	3			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr14:21936559G>A	ENST00000397762.1	-	5	419	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	107					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		GAACTAGAGTGCTGCCGGGCA	0.423													10	49					0	0	0	0	A	21936559	G	A	21936559	3	1	7	1	0	0	0	0	1	0	0	0	13000	1319	46	4	347	4	RAB2B	14	21936559	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08		21936559	85412981	75	1838											
SCFD1	23256	broad.mit.edu	37	chr14	31099754	31099754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaggagctaagagacatGggaatcactctgcatctgtg	12	9	13	7	0	3	2	1	1	2	1	3	5	3	4	0	2	2	2	0	2	3	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr14:31099754G>A	ENST00000458591.2	+	3	431	c.204G>A	c.(202-204)atG>atA	p.M68I	SCFD1_ENST00000396629.2_Intron|SCFD1_ENST00000544052.2_Start_Codon_SNP_p.M1I|SCFD1_ENST00000421551.3_Intron|SCFD1_ENST00000541123.1_5'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	68					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TAAGAGACATGGGAATCACTC	0.318													29	140					0	0	0	0	A	31099754	G	A	31099754	3	1	7	1	0	0	0	0	1	0	0	0	13975	1348	47	4	214	4	SCFD1	14	31099754	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	9163195	31099754	76249786	76	1839											
TTC7B	145567	broad.mit.edu	37	chr14	91142993	91142993	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatcctgctcagcacagcGtcccggttggcctgaaaaaa	10	8	11	12	2	1	1	1	1	0	0	3	1	3	1	3	3	3	4	3	3	4	2	rs149388931		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr14:91142993G>A	ENST00000357056.2	-	9	1147	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	TTC7B_ENST00000328459.6_Silent_p.D342D			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	342							binding	p.D342D(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCAGCACAGCGTCCCGGTTGG	0.532													17	98					0	0	0	0	A	91142993	G	A	91142993	2	1	7	1	0	0	0	0	0	0	0	1	16809	1136	40	1		1	TTC7B	14	91142993	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08	60043239	91142993	16206547	77	1840											
RASGRP1	10125	broad.mit.edu	37	chr15	38808519	38808519	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatttgattttatccttTgagtaagtttcctggaccag	8	18	9	6	0	0	2	0	2	0	0	2	3	2	3	3	2	0	3	3	2	3	7			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr15:38808519T>C	ENST00000310803.5	-	6	731	c.554A>G	c.(553-555)cAa>cGa	p.Q185R	RASGRP1_ENST00000539159.1_Missense_Mutation_p.Q137R|RASGRP1_ENST00000561180.1_Missense_Mutation_p.Q236R|RASGRP1_ENST00000559830.1_Missense_Mutation_p.Q185R|RASGRP1_ENST00000558164.1_Missense_Mutation_p.Q185R|RASGRP1_ENST00000450598.2_Missense_Mutation_p.Q185R	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	185					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TTTTATCCTTTGAGTAAGTTT	0.443													19	111					0	0	0	0	C	38808519	T	C	38808519	3	2	7	1	0	0	0	0	1	0	0	0	13156	1812	63	5	1887	5	RASGRP1	15	38808519	Missense_Mutation	SNP	T	TCGA-BA-5151-01A-01D-1434-08		38808519	63722873	78	1841											
VPS13C	54832	broad.mit.edu	37	chr15	62299547	62299547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctgagactttagactgtGttaacttgtttttgtaggca	8	18	9	6	0	1	2	0	1	1	2	1	3	1	2	0	1	1	4	0	1	3	8			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr15:62299547G>A	ENST00000261517.5	-	15	1323	c.1250C>T	c.(1249-1251)aCa>aTa	p.T417I	VPS13C_ENST00000395896.4_Missense_Mutation_p.T417I|VPS13C_ENST00000249837.3_Missense_Mutation_p.T374I|VPS13C_ENST00000395898.3_Missense_Mutation_p.T374I	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	417					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTAGACTGTGTTAACTTGTT	0.313													11	73					0	0	0	0	A	62299547	G	A	62299547	3	1	7	1	0	0	0	0	1	0	0	0	17287	1377	48	4	10323	4	VPS13C	15	62299547	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	23491028	62299547	40231845	79	1842											
MAP2K1	5604	broad.mit.edu	37	chr15	66727455	66727455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctttcttacccagaaGcagaaggtgggagaactgaa	13	7	13	8	0	1	4	0	1	1	3	1	6	1	4	2	3	3	1	2	3	5	2			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr15:66727455G>T	ENST00000307102.5	+	2	702	c.171G>T	c.(169-171)aaG>aaT	p.K57N		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	57					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K57N(3)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TTACCCAGAAGCAGAAGGTGG	0.542													47	286					4.18559e-23	4.85232e-23	1	0	T	66727455	G	T	66727455	3	4	7	1	0	0	0	0	1	0	0	0	9305	962	34	4	177	4	MAP2K1	15	66727455	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	4427908	66727455	35803937	80	1843											
PLIN1	5346	broad.mit.edu	37	chr15	90213327	90213327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgttggcagcaaattccGcagtgtctctggccaccccc	7	9	11	14	1	1	0	0	0	1	0	3	1	2	0	4	2	1	4	4	2	1	2			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr15:90213327G>A	ENST00000300055.5	-	5	647	c.482C>T	c.(481-483)gCg>gTg	p.A161V	PLIN1_ENST00000430628.2_Missense_Mutation_p.A161V	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	161					triglyceride catabolic process	lipid particle	lipid binding	p.A161V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						AGCAAATTCCGCAGTGTCTCT	0.627													9	37					0	0	0	0	A	90213327	G	A	90213327	3	1	7	1	0	0	0	0	1	0	0	0	12161	1087	38	1	1106	1	PLIN1	15	90213327	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	23485872	90213327	12318065	81	1844											
OR4F15	390649	broad.mit.edu	37	chr15	102358822	102358822	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagaatgtgtctatactttTtagccacttcctctatcatt	10	17	4	10	0	3	1	1	0	2	1	4	1	4	1	2	0	2	0	2	0	6	8			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr15:102358822T>C	ENST00000332238.4	+	1	457	c.433T>C	c.(433-435)Tta>Cta	p.L145L		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTATACTTTTTAGCCACTTC	0.408													36	241					0	0	0	0	C	102358822	T	C	102358822	2	2	7	1	0	0	0	0	0	0	0	1	11132	1838	64	5		5	OR4F15	15	102358822	Silent	SNP	T	TCGA-BA-5151-01A-01D-1434-08	12145495	102358822	172570	82	1845											
TAOK2	9344	broad.mit.edu	37	chr16	29990752	29990752	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaggatggcacccgaggTgatcctggccatggatgagg	8	8	15	10	1	0	2	0	2	0	0	2	5	2	4	4	6	0	1	4	6	1	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr16:29990752T>G	ENST00000308893.4	+	8	1621	c.578T>G	c.(577-579)gTg>gGg	p.V193G	TAOK2_ENST00000279394.3_Missense_Mutation_p.V193G|TAOK2_ENST00000543033.1_Missense_Mutation_p.V193G	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	193	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCACCCGAGGTGATCCTGGCC	0.582													5	37					0	0	0	0	G	29990752	T	G	29990752	3	3	7	1	0	0	0	0	1	0	0	0	15639	1696	59	5	604	5	TAOK2	16	29990752	Missense_Mutation	SNP	T	TCGA-BA-5151-01A-01D-1434-08		29990752	60364001	83	1846											
ITGAL	3683	broad.mit.edu	37	chr16	30510407	30510407	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcagctcccggcccgtGgtggatatggtcaccctgat	5	9	12	15	2	1	1	1	1	0	0	2	2	2	2	4	4	2	2	4	4	1	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr16:30510407G>A	ENST00000356798.6	+	16	2025	c.1845G>A	c.(1843-1845)gtG>gtA	p.V615V	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.V532V|RP11-297C4.1_ENST00000563751.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	615					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCCGGCCCGTGGTGGATATGG	0.567													11	49					0	0	0	0	A	30510407	G	A	30510407	2	1	7	1	0	0	0	0	0	0	0	1	7939	1335	47	4		4	ITGAL	16	30510407	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08	519655	30510407	59844346	84	1847											
ABCC12	94160	broad.mit.edu	37	chr16	48149471	48149471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggtcggagtagacagcgCgggccaggctaatcctctgc	8	6	15	12	4	1	1	0	0	1	1	3	3	2	2	2	4	2	2	2	4	2	2			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr16:48149471C>T	ENST00000311303.3	-	13	2189	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	ABCC12_ENST00000448542.1_Missense_Mutation_p.R615H|ABCC12_ENST00000416054.1_Missense_Mutation_p.A591T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	615	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R615H(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTAGACAGCGCGGGCCAGGCT	0.632													21	61					0	0	0	0	T	48149471	C	T	48149471	3	4	7	1	0	0	0	0	1	0	0	0	52	768	27	1	2303	1	ABCC12	16	48149471	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	17639064	48149471	42205282	85	1848											
FHOD1	29109	broad.mit.edu	37	chr16	67272317	67272317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgagaagagggagcggCggagctcaggaccactggag	11	4	18	8	2	2	2	2	1	0	2	2	7	2	6	1	5	2	1	1	5	1	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr16:67272317C>T	ENST00000258201.4	-	4	654	c.407G>A	c.(406-408)cGc>cAc	p.R136H	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	136	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAGGGAGCGGCGGAGCTCAGG	0.542													13	39					0	0	0	0	T	67272317	C	T	67272317	3	4	7	1	0	0	0	0	1	0	0	0	5927	768	27	1	3163	1	FHOD1	16	67272317	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	19122846	67272317	23082436	86	1849											
CTCF	10664	broad.mit.edu	37	chr16	67645241	67645242	+	Frame_Shift_Ins	INS	-	-	G																															gggtttcaggtggttaaagtINSgggggccaatggagaggtgg																										TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr16:67645241_67645242insG	ENST00000264010.4	+	3	950_951	c.506_507insG	c.(505-507)gggfs	p.G169fs	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	169					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GTGGTTAAAGTGGGGGCCAATG	0.505													19	122	---	---	---	---					G	67645242	-	G	67645241	7	5	7	1	0	1	1	0	0	0	0	0	4032	1696	59	0	508	0	CTCF	16	67645241	Frame_Shift_Ins	INS	-	TCGA-BA-5151-01A-01D-1434-08	372924	67645241	22709512	87	1850											
DLG4	1742	broad.mit.edu	37	chr17	7099547	7099547	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagcctctgacctgatgtaGaaaccccttttggggttgct	8	12	11	10	0	1	3	0	2	1	1	1	4	1	3	4	2	3	3	4	2	3	4			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr17:7099547G>A	ENST00000399510.2	-	13	2274	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	DLG4_ENST00000302955.6_Silent_p.F428F|DLG4_ENST00000399506.2_Silent_p.F431F	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	431	SH3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						ACCTGATGTAGAAACCCCTTT	0.642													5	85					0	0	0	0	A	7099547	G	A	7099547	2	1	7	1	0	0	0	0	0	0	0	1	4594	933	33	2		2	DLG4	17	7099547	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08		7099547	74095663	88	1851											
TP53	7157	broad.mit.edu	37	chr17	7578503	7578503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcaacccacagctgcaCagggcaggtcttggccagtt	10	7	12	12	0	2	0	1	0	1	0	2	1	2	1	2	4	3	4	2	4	2	2			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr17:7578503C>T	ENST00000420246.2	-	5	559	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	TP53_ENST00000269305.4_Missense_Mutation_p.V143M|TP53_ENST00000455263.2_Missense_Mutation_p.V143M|TP53_ENST00000359597.4_Missense_Mutation_p.V143M|TP53_ENST00000413465.2_Missense_Mutation_p.V143M|TP53_ENST00000445888.2_Missense_Mutation_p.V143M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V143M(19)|p.0?(8)|p.V143L(4)|p.V143fs*27(2)|p.V11M(1)|p.L137_W146del10(1)|p.V143fs*29(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V50M(1)|p.V143_S149del(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACAGCTGCACAGGGCAGGTC	0.587		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	47					0	0	0	0	T	7578503	C	T	7578503	3	4	7	1	0	0	0	0	1	0	0	0	16476	478	17	4	871	4	TP53	17	7578503	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	478956	7578503	73616707	89	1852											
STAC2	342667	broad.mit.edu	37	chr17	37368614	37368614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgacgcggatgaagccGtcagcatccttgcttctgcc	6	10	11	14	3	2	2	1	2	1	0	3	3	3	3	3	1	5	3	3	1	1	2	rs147042988		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr17:37368614G>A	ENST00000333461.5	-	11	1536	c.1167C>T	c.(1165-1167)gaC>gaT	p.D389D		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	389					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GGATGAAGCCGTCAGCATCCT	0.637													5	33					0	0	0	0	A	37368614	G	A	37368614	2	1	7	1	0	0	0	0	0	0	0	1	15330	1136	40	1		1	STAC2	17	37368614	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08	29790111	37368614	43826596	90	1853											
STAT3	6774	broad.mit.edu	37	chr17	40474419	40474419	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaggatattggtagcaTccatgatcttatagcccatg	12	11	8	10	0	1	1	0	1	1	0	2	2	2	2	3	2	2	2	3	2	4	5			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr17:40474419T>A	ENST00000264657.5	-	21	2294	c.1982A>T	c.(1981-1983)gAt>gTt	p.D661V	STAT3_ENST00000585517.1_Missense_Mutation_p.D661V|STAT3_ENST00000588969.1_Missense_Mutation_p.D661V|STAT3_ENST00000389272.3_Missense_Mutation_p.D563V|STAT3_ENST00000404395.3_Missense_Mutation_p.D661V	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	661	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ATTGGTAGCATCCATGATCTT	0.483									Hyperimmunoglobulin E Recurrent Infection Syndrome				59	230					0	0	0	0	A	40474419	T	A	40474419	3	1	7	1	0	0	0	0	1	0	0	0	15356	1435	50	5	346	5	STAT3	17	40474419	Missense_Mutation	SNP	T	TCGA-BA-5151-01A-01D-1434-08	3105805	40474419	40720791	91	1854											
ITGB3	3690	broad.mit.edu	37	chr17	45367599	45367599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagttggggttctgtccatgGattccagcaatgtcctccag	7	12	11	11	0	1	0	0	0	1	0	5	1	5	1	4	3	1	3	4	3	1	3	rs150029332	byFrequency	TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr17:45367599G>T	ENST00000559488.1	+	8	1100	c.1084G>T	c.(1084-1086)Gat>Tat	p.D362Y	ITGB3_ENST00000571680.1_Missense_Mutation_p.D362Y|ITGB3_ENST00000435993.2_Missense_Mutation_p.D315Y|ITGB3_ENST00000560629.1_Missense_Mutation_p.G350V	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	362	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TCTGTCCATGGATTCCAGCAA	0.493													49	205					1.11015e-26	1.31018e-26	1	0	T	45367599	G	T	45367599	3	4	7	1	0	0	0	0	1	0	0	0	7948	1174	41	2	1114	2	ITGB3	17	45367599	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	4893180	45367599	35827611	92	1855											
WFIKKN2	124857	broad.mit.edu	37	chr17	48913362	48913362	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtggcagcgctgctgctgCtgctgctactgctcggggtg	3	10	17	11	2	0	0	0	0	0	0	1	0	0	0	0	4	8	8	0	4	1	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr17:48913362C>G	ENST00000311378.4	+	1	592	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	WFIKKN2_ENST00000426127.1_Intron	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	22						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			gctgctgctgctgctgctact	0.677													2	13					0	0	0	0	G	48913362	C	G	48913362	3	3	7	1	0	0	0	0	1	0	0	0	17455	796	28	4	66	4	WFIKKN2	17	48913362	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	3545763	48913362	32281848	93	1856											
RPTOR	57521	broad.mit.edu	37	chr17	78899184	78899184	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagactgcggacgacgcGgacgatgctgctggacacaa	11	5	14	11	5	0	2	0	1	0	1	0	7	0	5	0	3	3	2	0	3	2	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr17:78899184G>A	ENST00000306801.3	+	24	3185	c.2823G>A	c.(2821-2823)gcG>gcA	p.A941A	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.A783A	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	941					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGGACGACGCGGACGATGCTG	0.572													14	65					0	0	0	0	A	78899184	G	A	78899184	2	1	7	1	0	0	0	0	0	0	0	1	13750	1103	39	1		1	RPTOR	17	78899184	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08	29985822	78899184	2296026	94	1857											
ANKRD12	23253	broad.mit.edu	37	chr18	9204522	9204522	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggggggagagacttatatCttcttacaggacatactcag	11	12	11	7	0	3	1	1	0	2	1	3	4	3	3	0	4	2	0	0	4	4	6			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr18:9204522C>G	ENST00000262126.3	+	4	524	c.284C>G	c.(283-285)tCt>tGt	p.S95C	ANKRD12_ENST00000383440.2_Intron|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Intron	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	95						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGACTTATATCTTCTTACAGG	0.373													41	126					0	0	0	0	G	9204522	C	G	9204522	3	3	7	1	0	0	0	0	1	0	0	0	640	913	32	2	294	2	ANKRD12	18	9204522	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08		9204522	68872726	95	1858											
MUC16	94025	broad.mit.edu	37	chr19	9088876	9088876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaacagtggttgttgctGaaggtaaccctgtcttgaat	10	14	11	6	0	1	3	0	3	1	0	1	3	1	3	1	2	3	4	1	2	4	5			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr19:9088876G>A	ENST00000397910.4	-	1	3142	c.2939C>T	c.(2938-2940)tCa>tTa	p.S980L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	980	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S980L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTGTTGCTGAAGGTAACCC	0.458													86	307					0	0	0	0	A	9088876	G	A	9088876	3	1	7	1	0	0	0	0	1	0	0	0	10043	1294	45	2	40920	2	MUC16	19	9088876	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08		9088876	50040107	96	1859											
SMARCA4	6597	broad.mit.edu	37	chr19	11132522	11132522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgctgacgggcacacCgctgcagaacaagcttcccg	8	6	11	16	3	0	2	0	1	0	1	1	2	1	2	3	1	5	6	3	1	2	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr19:11132522C>T	ENST00000358026.2	+	19	3022	c.2738C>T	c.(2737-2739)cCg>cTg	p.P913L	SMARCA4_ENST00000429416.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P913L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P913L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P913L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P913L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	913	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.P913Q(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACGGGCACACCGCTGCAGAAC	0.612			"F, N, Mis"		NSCLC								8	44					0	0	0	0	T	11132522	C	T	11132522	3	4	7	1	0	0	0	0	1	0	0	0	14858	652	23	1	2808	1	SMARCA4	19	11132522	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	2043646	11132522	47996461	97	1860											
RYR1	6261	broad.mit.edu	37	chr19	38939326	38939326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccaagcgggatgtggaggGcatgggcccccctgagatca	8	5	15	13	1	1	1	1	1	0	1	1	4	1	3	5	4	1	1	5	4	1	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr19:38939326G>A	ENST00000355481.4	+	11	1126	c.995G>A	c.(994-996)gGc>gAc	p.G332D	RYR1_ENST00000360985.3_Missense_Mutation_p.G332D|RYR1_ENST00000359596.3_Missense_Mutation_p.G332D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	332					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GATGTGGAGGGCATGGGCCCC	0.637													41	164					0	0	0	0	A	38939326	G	A	38939326	3	1	7	1	0	0	0	0	1	0	0	0	13853	1203	42	4	1037	4	RYR1	19	38939326	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	27806804	38939326	20189657	98	1861											
ZNF610	162963	broad.mit.edu	37	chr19	52856994	52856994	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaggagtggaaatccctGgaccctggacagagggcttt	10	7	15	9	0	0	1	0	0	0	1	1	6	1	6	2	6	0	1	2	6	1	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr19:52856994G>C	ENST00000601151.1	+	4	575	c.123G>C	c.(121-123)ctG>ctC	p.L41L	ZNF610_ENST00000403906.3_Silent_p.L41L|ZNF610_ENST00000327920.8_Silent_p.L41L|ZNF610_ENST00000321287.8_Silent_p.L41L	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGAAATCCCTGGACCCTGGAC	0.493													32	140					0	0	0	0	C	52856994	G	C	52856994	2	2	7	1	0	0	0	0	0	0	0	1	18131	1335	47	4		4	ZNF610	19	52856994	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08	13917668	52856994	6271989	99	1862											
NLRP12	91662	broad.mit.edu	37	chr19	54327166	54327166	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggtcctctctctgtcctCtctcccacaggtccttcctg	3	13	6	19	0	3	0	0	0	3	0	10	0	8	0	6	2	0	0	6	2	0	1			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr19:54327166C>G	ENST00000324134.6	-	1	431	c.263G>C	c.(262-264)aGa>aCa	p.R88T	NLRP12_ENST00000391775.3_Missense_Mutation_p.R88T|NLRP12_ENST00000354278.3_Missense_Mutation_p.R88T|NLRP12_ENST00000351894.4_Missense_Mutation_p.R88T|NLRP12_ENST00000391772.1_Missense_Mutation_p.R88T|NLRP12_ENST00000535162.1_Missense_Mutation_p.R88T|NLRP12_ENST00000391773.1_Missense_Mutation_p.R88T|NLRP12_ENST00000345770.5_Missense_Mutation_p.R88T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	88	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCTCTGTCCTCTCTCCCACAG	0.587													65	224					0	0	0	0	G	54327166	C	G	54327166	3	3	7	1	0	0	0	0	1	0	0	0	10544	913	32	2	3058	2	NLRP12	19	54327166	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08	1470172	54327166	4801817	100	1863											
BTBD3	22903	broad.mit.edu	37	chr20	11903288	11903288	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgctttttacagatatatCtattgtgatgaaattgactt	11	19	7	4	0	1	4	0	3	1	1	1	4	1	4	0	0	2	1	0	0	5	9			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr20:11903288C>G	ENST00000405977.1	+	5	1168	c.543C>G	c.(541-543)atC>atG	p.I181M	BTBD3_ENST00000378226.2_Missense_Mutation_p.I181M|BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000254977.3_Missense_Mutation_p.I120M|BTBD3_ENST00000399006.2_Missense_Mutation_p.I120M			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	181	BTB.									breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						ACAGATATATCTATTGTGATG	0.388													27	132					0	0	0	0	G	11903288	C	G	11903288	3	3	7	1	0	0	0	0	1	0	0	0	1553	903	32	2	557	2	BTBD3	20	11903288	Missense_Mutation	SNP	C	TCGA-BA-5151-01A-01D-1434-08		11903288	51122232	101	1864											
PTPRT	11122	broad.mit.edu	37	chr20	40743859	40743859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctggactgtgaaggtgcGtatgacgtattctgccaggg	7	12	14	8	2	2	2	0	2	2	0	2	3	2	3	1	3	2	2	1	3	3	4			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr20:40743859G>A	ENST00000373198.3	-	23	3380	c.3145C>T	c.(3145-3147)Cgc>Tgc	p.R1049C	PTPRT_ENST00000373193.3_Missense_Mutation_p.R1030C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1037C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1036C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1026C|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1027C|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1017C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1027	Tyrosine-protein phosphatase 1.				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)				GTGAAGGTGCGTATGACGTAT	0.512													31	133					0	0	0	0	A	40743859	G	A	40743859	3	1	7	1	0	0	0	0	1	0	0	0	12894	1145	40	1	1286	1	PTPRT	20	40743859	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	28840571	40743859	22281661	102	1865											
CLDN17	26285	broad.mit.edu	37	chr21	31538657	31538657	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatgccaataagcagggcGatcaaggagagagcaacagc	16	3	13	9	1	1	2	1	0	0	2	1	5	1	3	1	2	5	2	1	2	4	1	rs138854149		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr21:31538657G>A	ENST00000286808.3	-	1	314	c.279C>T	c.(277-279)atC>atT	p.I93I		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	93					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TAAGCAGGGCGATCAAGGAGA	0.557													32	105					0	0	0	0	A	31538657	G	A	31538657	2	1	7	1	0	0	0	0	0	0	0	1	3508	1048	37	1		1	CLDN17	21	31538657	Silent	SNP	G	TCGA-BA-5151-01A-01D-1434-08		31538657	16591238	103	1866											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45993723	45993723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctccgactcctggcaggtgGacgactgcccagagagctgc	7	6	14	14	2	0	1	0	0	0	1	2	5	2	2	3	3	3	3	3	3	0	0			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr21:45993723G>A	ENST00000400374.3	+	1	118	c.88G>A	c.(88-90)Gac>Aac	p.D30N	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	30						keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CTGGCAGGTGGACGACTGCCC	0.682													27	99					0	0	0	0	A	45993723	G	A	45993723	3	1	7	1	0	0	0	0	1	0	0	0	8563	1174	41	2	90	2	KRTAP10-4	21	45993723	Missense_Mutation	SNP	G	TCGA-BA-5151-01A-01D-1434-08	14455066	45993723	2136172	104	1867											
KIAA1210	57481	broad.mit.edu	37	chrX	118217058	118217058	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaacatctttttaggtTggttttcatttgcagagcca	10	16	9	6	0	2	2	1	1	1	1	2	2	2	2	1	2	3	3	1	2	3	7			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chrX:118217058T>C	ENST00000402510.2	-	13	4873	c.4874A>G	c.(4873-4875)cAa>cGa	p.Q1625R		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1625										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTTTTTAGGTTGGTTTTCATT	0.388													34	61					0	0	0	0	C	118217058	T	C	118217058	3	2	7	1	0	0	0	0	1	0	0	0	8265	1812	63	5	263	5	KIAA1210	23	118217058	Missense_Mutation	SNP	T	TCGA-BA-5151-01A-01D-1434-08		118217058	37053502	105	1868											
MXRA8	54587	broad.mit.edu	37	chr1	1290234	1290234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcggcgacctccagcggctcGatacgcagtgagaagtcacc	9	6	12	14	5	1	1	1	1	0	1	4	4	2	1	3	2	2	2	3	2	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:1290234G>C	ENST00000309212.6	-	5	807	c.777C>G	c.(775-777)atC>atG	p.I259M	MXRA8_ENST00000342753.4_Missense_Mutation_p.I158M|MXRA8_ENST00000445648.2_Missense_Mutation_p.I259M	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	259	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCAGCGGCTCGATACGCAGTG	0.687													9	30					0	0	0	0	C	1290234	G	C	1290234	3	2	8	1	0	0	0	0	1	0	0	0	10075	1048	37	3	575	3	MXRA8	1	1290234	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08		1290234	247960387	1	1869											
ATAD3B	83858	broad.mit.edu	37	chr1	1417591	1417591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccgaggcccgggcgcgCgccaaggccgagcgggagaa	9	0	19	13	7	0	2	0	0	0	2	0	6	0	2	4	4	1	0	4	4	2	0	rs143801965		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:1417591C>T	ENST00000308647.7	+	6	704	c.588C>T	c.(586-588)cgC>cgT	p.R196R	ATAD3B_ENST00000378741.3_Silent_p.R28R|ATAD3B_ENST00000378736.2_3'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	196							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCGGGCGCGCGCCAAGGCCG	0.662													22	21					0	0	0	0	T	1417591	C	T	1417591	2	4	8	1	0	0	0	0	0	0	0	1	1078	755	27	1		1	ATAD3B	1	1417591	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	127357	1417591	247833030	2	1870											
GNB1	2782	broad.mit.edu	37	chr1	1721851	1721851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgcaaatggcattgatgtCagactcgtggccagtgaagg	11	8	13	9	2	1	3	1	2	0	1	2	3	1	3	1	3	0	2	1	3	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:1721851C>T	ENST00000378609.4	-	9	1013	c.682G>A	c.(682-684)Gac>Aac	p.D228N		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	228					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCATTGATGTCAGACTCGTGG	0.532													6	93					0	0	0	0	T	1721851	C	T	1721851	3	4	8	1	0	0	0	0	1	0	0	0	6566	826	29	2	352	2	GNB1	1	1721851	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	304260	1721851	247528770	3	1871											
MEGF6	1953	broad.mit.edu	37	chr1	3427384	3427384	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggcactgagccggtagccGgcgtagcagccgcactcgta	7	6	14	14	6	0	1	0	1	0	0	2	1	0	1	3	3	4	6	3	3	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:3427384G>A	ENST00000356575.4	-	10	1423	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A	MEGF6_ENST00000294599.4_Silent_p.A294A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	399	EGF-like 7.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCGGTAGCCGGCGTAGCAGC	0.672													30	41					0	0	0	0	A	3427384	G	A	3427384	2	1	8	1	0	0	0	0	0	0	0	1	9531	1103	39	1		1	MEGF6	1	3427384	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1705533	3427384	245823237	4	1872											
AADACL4	343066	broad.mit.edu	37	chr1	12726206	12726206	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatccagttgtccaggcattCtgtttgcagttgccatcctt	6	16	8	11	0	1	0	0	0	1	0	4	0	4	0	4	1	2	5	4	1	1	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:12726206C>G	ENST00000376221.1	+	4	684	c.684C>G	c.(682-684)ttC>ttG	p.F228L		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	228						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TCCAGGCATTCTGTTTGCAGT	0.527													102	177					0	0	0	0	G	12726206	C	G	12726206	3	3	8	1	0	0	0	0	1	0	0	0	13	912	32	2	698	2	AADACL4	1	12726206	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	9298822	12726206	236524415	5	1873											
EPHA2	1969	broad.mit.edu	37	chr1	16461683	16461683	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cattgtagctgttggagtctCcctgtgggtgggtggccggc	3	12	17	9	1	1	0	0	0	1	0	2	1	1	1	2	5	1	3	2	5	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:16461683C>G	ENST00000358432.5	-	7	1584	c.1428_splice	c.e7-1	p.G477_splice		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	477	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GTTGGAGTCTCCCTGTGGGTG	0.677													66	144					0	0	0	0	G	16461683	C	G	16461683	5	3	8	1	0	0	0	0	0	0	1	0	5205	869	30	2	1544	2	EPHA2	1	16461683	Splice_Site	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3735477	16461683	232788938	6	1874											
EPHA2	1969	broad.mit.edu	37	chr1	16464404	16464404	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcggctggttaccaggcctGagacgccattgcgggcctcc	5	8	14	14	3	0	1	0	1	0	1	1	2	1	1	5	4	3	2	5	4	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:16464404G>C	ENST00000358432.5	-	5	1410	c.1256C>G	c.(1255-1257)tCa>tGa	p.S419*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	419	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TACCAGGCCTGAGACGCCATT	0.637													17	79					0	0	0	0	C	16464404	G	C	16464404	4	2	8	1	0	0	0	0	0	1	0	0	5205	1294	45	2	1726	2	EPHA2	1	16464404	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2721	16464404	232786217	7	1875											
EPHA2	1969	broad.mit.edu	37	chr1	16475323	16475323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgtagtccaggtccgactCggcatagtagaggttgaaag	10	8	14	9	3	0	2	0	1	0	1	3	3	2	2	3	3	0	4	3	3	4	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:16475323C>T	ENST00000358432.5	-	3	527	c.373G>A	c.(373-375)Gag>Aag	p.E125K	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	125					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGGTCCGACTCGGCATAGTAG	0.547													31	60					0	0	0	0	T	16475323	C	T	16475323	3	4	8	1	0	0	0	0	1	0	0	0	5205	893	31	1	2617	1	EPHA2	1	16475323	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	10919	16475323	232775298	8	1876											
CROCC	9696	broad.mit.edu	37	chr1	17264170	17264170	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctggcagtgaagcgtcttGagaagcagaatctggagaag	12	7	15	7	1	2	4	0	2	2	3	2	6	2	4	1	2	2	2	1	2	4	1	rs141704732		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:17264170G>C	ENST00000375541.5	+	10	1297	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	410					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAAGCGTCTTGAGAAGCAGAA	0.572													6	18					0	0	0	0	C	17264170	G	C	17264170	3	2	8	1	0	0	0	0	1	0	0	0	3923	1291	45	2	1266	2	CROCC	1	17264170	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	788847	17264170	231986451	9	1877											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18023375	18023375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcactcaacgggcactgtGggcctgtggccttcctggct	4	11	12	14	1	2	0	2	0	1	0	4	0	3	0	3	4	1	2	3	4	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:18023375G>A	ENST00000361221.3	+	29	3499	c.3340G>A	c.(3340-3342)Ggg>Agg	p.G1114R	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.G887R|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.G1075R|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.G817R|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.G1075R	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1114					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGGGCACTGTGGGCCTGTGGC	0.627											OREG0013156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	32					0	0	0	0	A	18023375	G	A	18023375	3	1	8	1	0	0	0	0	1	0	0	0	897	1348	47	4	3450	4	ARHGEF10L	1	18023375	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	759205	18023375	231227246	10	1878											
UBR4	23352	broad.mit.edu	37	chr1	19407997	19407997	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtccacttcaaaggcactctCcacccacttctccttgggct	7	11	6	17	0	3	0	1	0	2	0	6	0	4	0	4	2	0	2	4	2	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:19407997C>G	ENST00000375267.2	-	103	15082	c.15079G>C	c.(15079-15081)Gag>Cag	p.E5027Q	UBR4_ENST00000375224.1_Missense_Mutation_p.E734Q|UBR4_ENST00000429347.2_Missense_Mutation_p.E550Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E5020Q|UBR4_ENST00000375254.3_Missense_Mutation_p.E5027Q|UBR4_ENST00000375225.3_Missense_Mutation_p.E102Q|UBR4_ENST00000375226.2_Missense_Mutation_p.E5003Q|UBR4_ENST00000543981.1_Missense_Mutation_p.E691Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5027					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGGCACTCTCCACCCACTTC	0.517													92	195					0	0	0	0	G	19407997	C	G	19407997	3	3	8	1	0	0	0	0	1	0	0	0	17000	864	30	2	488	2	UBR4	1	19407997	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1384622	19407997	229842624	11	1879											
UBR4	23352	broad.mit.edu	37	chr1	19446699	19446699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgcagtgtcagacagtGggcctgccagcgcaccgagg	8	6	16	11	2	1	1	1	0	0	1	1	3	1	1	3	2	3	2	3	2	0	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:19446699G>A	ENST00000375267.2	-	69	10288	c.10285C>T	c.(10285-10287)Cac>Tac	p.H3429Y	UBR4_ENST00000375217.2_Missense_Mutation_p.H3422Y|UBR4_ENST00000375254.3_Missense_Mutation_p.H3429Y|UBR4_ENST00000375226.2_Missense_Mutation_p.H3405Y			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3429					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTCAGACAGTGGGCCTGCCAG	0.512													13	108					0	0	0	0	A	19446699	G	A	19446699	3	1	8	1	0	0	0	0	1	0	0	0	17000	1348	47	4	5418	4	UBR4	1	19446699	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	38702	19446699	229803922	12	1880											
NUDC	10726	broad.mit.edu	37	chr1	27272172	27272172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaagaaacaggagattctGaagaagtgagcaattcagag	18	6	12	5	0	2	7	1	2	1	5	2	8	2	7	0	1	2	1	0	1	5	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:27272172G>A	ENST00000321265.5	+	8	1062	c.939G>A	c.(937-939)ctG>ctA	p.L313L	NUDC_ENST00000484772.1_3'UTR	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	313					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		AGGAGATTCTGAAGAAGTGAG	0.547													8	124					0	0	0	0	A	27272172	G	A	27272172	2	1	8	1	0	0	0	0	0	0	0	1	10792	1277	45	2		2	NUDC	1	27272172	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	7825473	27272172	221978449	13	1881											
AHDC1	27245	broad.mit.edu	37	chr1	27877465	27877465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacaggatctttggcctatCagtgcgccgcaaggcgtact	9	9	11	12	3	2	0	1	0	1	0	2	1	2	1	2	3	2	2	2	3	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:27877465C>T	ENST00000374011.2	-	6	2130	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N	AHDC1_ENST00000247087.5_Missense_Mutation_p.D388N|AHDC1_ENST00000482400.2_5'UTR	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	388	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TTTGGCCTATCAGTGCGCCGC	0.716													6	15					0	0	0	0	T	27877465	C	T	27877465	3	4	8	1	0	0	0	0	1	0	0	0	412	826	29	2	3653	2	AHDC1	1	27877465	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	605293	27877465	221373156	14	1882											
BSDC1	55108	broad.mit.edu	37	chr1	32841914	32841914	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccactatccgagttcagctCaaacacccgtaagtctgtgg	10	9	8	14	2	3	0	2	0	1	0	4	1	4	0	3	1	2	3	3	1	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:32841914C>G	ENST00000341071.7	-	9	1167	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	BSDC1_ENST00000449308.1_Missense_Mutation_p.E369Q|BSDC1_ENST00000446293.2_Missense_Mutation_p.E386Q|BSDC1_ENST00000413080.1_Missense_Mutation_p.E308Q|BSDC1_ENST00000419121.2_Missense_Mutation_p.E313Q|BSDC1_ENST00000455895.2_Missense_Mutation_p.E369Q|BSDC1_ENST00000526031.1_Missense_Mutation_p.E274Q			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	369							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGTTCAGCTCAAACACCCGT	0.617													47	121					0	0	0	0	G	32841914	C	G	32841914	3	3	8	1	0	0	0	0	1	0	0	0	1536	835	29	2	199	2	BSDC1	1	32841914	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	4964449	32841914	216408707	15	1883											
KIAA1522	57648	broad.mit.edu	37	chr1	33234274	33234274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcccggacggggccggatGaagacaacatctccttctgc	8	7	11	15	3	2	2	0	1	2	1	4	4	3	4	4	4	2	0	4	4	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:33234274G>A	ENST00000401073.2	+	4	554	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	KIAA1522_ENST00000373481.3_Missense_Mutation_p.E114K|KIAA1522_ENST00000373480.1_Missense_Mutation_p.E103K|KIAA1522_ENST00000294521.3_Missense_Mutation_p.E103K	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	103										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGGGCCGGATGAAGACAACAT	0.562													11	49					0	0	0	0	A	33234274	G	A	33234274	3	1	8	1	0	0	0	0	1	0	0	0	8289	1291	45	2	498	2	KIAA1522	1	33234274	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	392360	33234274	216016347	16	1884											
KIAA1522	57648	broad.mit.edu	37	chr1	33234319	33234319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccacatcctacgtggctGagagctccacagcagaggac	12	5	11	13	1	0	3	0	1	0	3	2	5	2	4	3	2	3	3	3	2	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:33234319G>C	ENST00000401073.2	+	4	599	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	KIAA1522_ENST00000373481.3_Missense_Mutation_p.E129Q|KIAA1522_ENST00000373480.1_Missense_Mutation_p.E118Q|KIAA1522_ENST00000294521.3_Missense_Mutation_p.E118Q	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	118										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTACGTGGCTGAGAGCTCCAC	0.602													5	30					0	0	0	0	C	33234319	G	C	33234319	3	2	8	1	0	0	0	0	1	0	0	0	8289	1291	45	2	543	2	KIAA1522	1	33234319	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	45	33234319	216016302	17	1885											
DLGAP3	58512	broad.mit.edu	37	chr1	35334493	35334493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggcccactggccctgcGtgtggaccgtgcggaagact	6	7	16	12	3	0	1	0	0	0	1	0	3	0	3	3	5	2	1	3	5	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:35334493G>A	ENST00000373347.1	-	9	2466	c.2198C>T	c.(2197-2199)aCg>aTg	p.T733M	DLGAP3_ENST00000235180.4_Missense_Mutation_p.T733M			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	733					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTGGCCCTGCGTGTGGACCGT	0.741													12	12					0	0	0	0	A	35334493	G	A	35334493	3	1	8	1	0	0	0	0	1	0	0	0	4598	1145	40	1	757	1	DLGAP3	1	35334493	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2100174	35334493	213916128	18	1886											
NCDN	23154	broad.mit.edu	37	chr1	36024783	36024783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggccgaaaccccaccctgGagcgctacctgggagccctc	8	4	12	17	2	0	0	0	0	0	0	1	3	0	2	6	3	4	1	6	3	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:36024783G>A	ENST00000373243.2	+	2	492	c.109G>A	c.(109-111)Gag>Aag	p.E37K	NCDN_ENST00000373253.3_Missense_Mutation_p.E20K|NCDN_ENST00000356090.4_Missense_Mutation_p.E37K|NCDN_ENST00000459931.1_3'UTR	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	37					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCCACCCTGGAGCGCTACCT	0.597													21	78					0	0	0	0	A	36024783	G	A	36024783	3	1	8	1	0	0	0	0	1	0	0	0	10284	1175	41	2	115	2	NCDN	1	36024783	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	690290	36024783	213225838	19	1887											
MUTYH	4595	broad.mit.edu	37	chr1	45796983	45796983	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatacttgatatgtcagcttGatgtgagagaaggtgtggac	11	13	13	4	0	1	4	1	3	0	1	1	6	1	5	0	2	2	1	0	2	4	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:45796983G>C	ENST00000450313.1	-	14	1562	c.1347C>G	c.(1345-1347)atC>atG	p.I449M	MUTYH_ENST00000529984.1_Missense_Mutation_p.I116M|MUTYH_ENST00000528332.2_Missense_Mutation_p.I130M|MUTYH_ENST00000372098.3_Missense_Mutation_p.I446M|MUTYH_ENST00000456914.2_Missense_Mutation_p.I421M|MUTYH_ENST00000355498.2_Missense_Mutation_p.I421M|MUTYH_ENST00000448481.1_Missense_Mutation_p.I432M|MUTYH_ENST00000488731.2_Missense_Mutation_p.I116M|MUTYH_ENST00000372100.5_Missense_Mutation_p.I432M|MUTYH_ENST00000372104.1_Missense_Mutation_p.I421M|MUTYH_ENST00000372110.3_Missense_Mutation_p.I436M|MUTYH_ENST00000354383.6_Missense_Mutation_p.I422M|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372115.3_Missense_Mutation_p.I435M	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	446	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ATGTCAGCTTGATGTGAGAGA	0.537			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				11	58					0	0	0	0	C	45796983	G	C	45796983	3	2	8	1	0	0	0	0	1	0	0	0	10063	1280	45	2	314	2	MUTYH	1	45796983	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	9772200	45796983	203453638	20	1888											
CYP4X1	260293	broad.mit.edu	37	chr1	47515108	47515108	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcaggtctttgaccccttGaggttctctcaggagaattc	7	15	9	10	0	4	3	2	2	2	1	6	4	4	3	2	3	0	1	2	3	1	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:47515108G>C	ENST00000371901.3	+	11	1537	c.1287G>C	c.(1285-1287)ttG>ttC	p.L429F	CYP4X1_ENST00000538609.1_Missense_Mutation_p.L428F	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	429						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTGACCCCTTGAGGTTCTCTC	0.458													36	95					0	0	0	0	C	47515108	G	C	47515108	3	2	8	1	0	0	0	0	1	0	0	0	4225	1281	45	2	1329	2	CYP4X1	1	47515108	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1718125	47515108	201735513	21	1889											
SGIP1	84251	broad.mit.edu	37	chr1	67155939	67155939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcacccttagcgcgggctGaaagcacttcttcaatatcg	10	10	9	12	3	2	1	1	1	1	0	3	1	2	1	1	1	3	3	1	1	5	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:67155939G>A	ENST00000371037.4	+	17	1587	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	SGIP1_ENST00000371035.3_Missense_Mutation_p.E294K|SGIP1_ENST00000371036.3_Missense_Mutation_p.E304K|SGIP1_ENST00000371039.1_Missense_Mutation_p.E305K|SGIP1_ENST00000237247.6_Missense_Mutation_p.E535K	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	504					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCGCGGGCTGAAAGCACTTC	0.453													55	140					0	0	0	0	A	67155939	G	A	67155939	3	1	8	1	0	0	0	0	1	0	0	0	14293	1291	45	2	1576	2	SGIP1	1	67155939	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	19640831	67155939	182094682	22	1890											
C1orf141	400757	broad.mit.edu	37	chr1	67558949	67558949	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaattctgtgagaaattataGagtgtattccaagatctgtt	14	15	8	4	0	2	3	0	1	2	3	3	4	3	3	1	0	0	2	1	0	6	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:67558949G>C	ENST00000371007.2	-	8	1051	c.942C>G	c.(940-942)ctC>ctG	p.L314L	C1orf141_ENST00000544837.1_Silent_p.L314L|C1orf141_ENST00000371006.1_Silent_p.L314L	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	314										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						AGAAATTATAGAGTGTATTCC	0.343													31	98					0	0	0	0	C	67558949	G	C	67558949	2	2	8	1	0	0	0	0	0	0	0	1	2020	929	33	2		2	C1orf141	1	67558949	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	403010	67558949	181691672	23	1891											
LRRC7	57554	broad.mit.edu	37	chr1	70505167	70505167	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacccttcatatcaagaagtGaaagctcaggcgggaagttt	13	9	10	9	1	3	2	3	1	0	1	3	3	3	3	1	2	1	2	1	2	5	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:70505167G>C	ENST00000310961.5	+	22	3979	c.3561G>C	c.(3559-3561)gtG>gtC	p.V1187V	LRRC7_ENST00000035383.5_Silent_p.V1182V|LRRC7_ENST00000415775.2_Silent_p.V466V			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1182						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATCAAGAAGTGAAAGCTCAGG	0.502													15	53					0	0	0	0	C	70505167	G	C	70505167	2	2	8	1	0	0	0	0	0	0	0	1	9084	1277	45	2		2	LRRC7	1	70505167	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2946218	70505167	178745454	24	1892											
USP33	23032	broad.mit.edu	37	chr1	78163136	78163136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaaattccatgtttcttCagaaatctggccagaatctg	13	12	7	9	0	4	3	1	0	3	3	5	3	5	3	2	1	0	1	2	1	4	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:78163136C>T	ENST00000370793.1	-	25	3041	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	USP33_ENST00000370794.3_Missense_Mutation_p.E868K|USP33_ENST00000357428.1_Missense_Mutation_p.E899K	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	899	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CATGTTTCTTCAGAAATCTGG	0.388													35	114					0	0	0	0	T	78163136	C	T	78163136	3	4	8	1	0	0	0	0	1	0	0	0	17160	835	29	2	137	2	USP33	1	78163136	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7657969	78163136	171087485	25	1893											
LRRC8C	84230	broad.mit.edu	37	chr1	90178699	90178699	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaaaaggacaacaggaaGaacaacatgaacaggtccaa	22	2	10	7	0	0	3	0	1	0	2	1	6	1	5	1	3	4	0	1	3	9	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:90178699G>C	ENST00000370454.4	+	3	825	c.570G>C	c.(568-570)aaG>aaC	p.K190N	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	190						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ACAACAGGAAGAACAACATGA	0.453													17	78					0	0	0	0	C	90178699	G	C	90178699	3	2	8	1	0	0	0	0	1	0	0	0	9087	933	33	2	576	2	LRRC8C	1	90178699	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	12015563	90178699	159071922	26	1894											
ABCA4	24	broad.mit.edu	37	chr1	94528713	94528713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccacgtctatgtccattCggatcttatacttcacgtgg	8	13	7	13	3	3	0	1	0	2	0	5	1	4	1	3	2	1	0	3	2	3	5	rs61748559		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:94528713C>T	ENST00000370225.3	-	12	1801	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.R572Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	572			R -> P (in STGD1).|R -> Q (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TATGTCCATTCGGATCTTATA	0.473													58	148					0	0	0	0	T	94528713	C	T	94528713	3	4	8	1	0	0	0	0	1	0	0	0	34	884	31	1	5262	1	ABCA4	1	94528713	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	4350014	94528713	154721908	27	1895											
WDR77	79084	broad.mit.edu	37	chr1	111990152	111990152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatacttgcagaacttgctGacaataagtgtctcattctc	11	14	6	10	0	3	2	2	1	2	1	5	2	3	2	0	0	4	2	0	0	4	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:111990152G>A	ENST00000235090.5	-	3	554	c.348C>T	c.(346-348)gtC>gtT	p.V116V	WDR77_ENST00000411751.2_Intron|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	116					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGAACTTGCTGACAATAAGTG	0.453													11	40					0	0	0	0	A	111990152	G	A	111990152	2	1	8	1	0	0	0	0	0	0	0	1	17423	1277	45	2		2	WDR77	1	111990152	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	17461439	111990152	137260469	28	1896											
DDX20	11218	broad.mit.edu	37	chr1	112303904	112303904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcctgctgagtgcatttCaggtaagttcatctcttact	7	17	7	10	0	3	1	2	1	1	0	5	1	4	1	1	1	3	4	1	1	2	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:112303904C>T	ENST00000369702.4	+	7	1639	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	340	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTGCATTTCAGGTAAGTTC	0.338													11	78					0	0	0	0	T	112303904	C	T	112303904	3	4	8	1	0	0	0	0	1	0	0	0	4380	838	29	2	1045	2	DDX20	1	112303904	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	313752	112303904	136946717	29	1897											
HIST2H3D	653604	broad.mit.edu	37	chr1	149784945	149784945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagccccaccaggtaggcctCgctggcctcctgcagcgcca	6	5	11	19	2	0	0	0	0	0	0	2	0	1	0	7	3	3	3	7	3	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:149784945C>T	ENST00000331491.1	-	1	291	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	98					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						AGGTAGGCCTCGCTGGCCTCC	0.642													14	50					0	0	0	0	T	149784945	C	T	149784945	3	4	8	1	0	0	0	0	1	0	0	0	7231	893	31	1	120	1	HIST2H3D	1	149784945	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	37481041	149784945	99465676	30	1898											
RFX5	5993	broad.mit.edu	37	chr1	151317305	151317305	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgtactcctcattgctCagtgtacttggctctgagct	7	15	8	11	0	3	1	2	1	1	0	4	1	4	1	1	1	5	5	1	1	3	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:151317305C>A	ENST00000290524.4	-	6	430	c.252G>T	c.(250-252)ctG>ctT	p.L84L	RFX5_ENST00000452671.2_Silent_p.L84L|RFX5_ENST00000452513.2_Intron|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000368870.2_Silent_p.L84L	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	84	N-terminal domain.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTCATTGCTCAGTGTACTTG	0.463													8	59					7.48243e-07	7.7865e-07	1	0	A	151317305	C	A	151317305	2	1	8	1	0	0	0	0	0	0	0	1	13348	813	29	2		2	RFX5	1	151317305	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1532360	151317305	97933316	31	1899											
TCHH	7062	broad.mit.edu	37	chr1	152079998	152079998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgggattttatctcccCgacttggcggtgcctctgtt	3	17	10	11	2	3	0	0	0	3	0	4	2	3	1	3	3	1	1	3	3	1	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:152079998C>T	ENST00000368804.1	-	2	5694	c.5695G>A	c.(5695-5697)Ggg>Agg	p.G1899R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1899					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTATCTCCCCGACTTGGCGG	0.582													27	105					0	0	0	0	T	152079998	C	T	152079998	3	4	8	1	0	0	0	0	1	0	0	0	15794	652	23	1	140	1	TCHH	1	152079998	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	762693	152079998	97170623	32	1900											
FLG	2312	broad.mit.edu	37	chr1	152282518	152282518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagatccataatggtttctgGaagccgactcagaccgcctc	10	9	9	13	2	2	2	1	0	1	2	4	4	3	3	4	2	1	1	4	2	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:152282518G>A	ENST00000368799.1	-	3	4879	c.4844C>T	c.(4843-4845)tCc>tTc	p.S1615F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1615	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTTTCTGGAAGCCGACTC	0.572									Ichthyosis				57	147					0	0	0	0	A	152282518	G	A	152282518	3	1	8	1	0	0	0	0	1	0	0	0	5967	1174	41	2	7345	2	FLG	1	152282518	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	202520	152282518	96968103	33	1901											
KPRP	448834	broad.mit.edu	37	chr1	152733229	152733229	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtccaccacggcgtcttGaccagtgtccagagtcacca	8	9	9	15	2	3	2	1	1	2	1	5	2	5	2	5	1	0	0	5	1	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:152733229G>C	ENST00000368773.1	+	2	1223	c.1165G>C	c.(1165-1167)Gac>Cac	p.D389H	KPRP_ENST00000606109.1_Missense_Mutation_p.D389H	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	389	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGGCGTCTTGACCAGTGTCC	0.647													15	31					0	0	0	0	C	152733229	G	C	152733229	3	2	8	1	0	0	0	0	1	0	0	0	8488	1290	45	2	1167	2	KPRP	1	152733229	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	450711	152733229	96517392	34	1902											
S100A2	6273	broad.mit.edu	37	chr1	153533966	153533966	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattgcacatgacagtgatGagtgccaggaaaacagcata	15	8	10	8	0	1	3	1	3	0	0	1	4	1	4	1	1	4	2	1	1	3	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:153533966G>A	ENST00000368708.3	-	3	615	c.243C>T	c.(241-243)ctC>ctT	p.L81L	S100A2_ENST00000368709.1_Silent_p.L81L|S100A2_ENST00000368710.1_Silent_p.L81L|S100A2_ENST00000368707.4_3'UTR|S100A2_ENST00000497140.1_Silent_p.L48L|S100A2_ENST00000487430.2_Silent_p.L81L	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	82	EF-hand 2.				endothelial cell migration		calcium ion binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGACAGTGATGAGTGCCAGGA	0.542													4	184					0	0	0	0	A	153533966	G	A	153533966	2	1	8	1	0	0	0	0	0	0	0	1	13863	1277	45	2		2	S100A2	1	153533966	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	800737	153533966	95716655	35	1903											
TPM3	7170	broad.mit.edu	37	chr1	154144523	154144523	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttttcttcagcagcactCagacacttcaggttctggtc	8	13	7	13	0	5	1	3	0	2	1	6	1	5	1	1	2	2	3	1	2	0	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:154144523C>G	ENST00000368533.3	-	5	565	c.513G>C	c.(511-513)ctG>ctC	p.L171L	TPM3_ENST00000368530.2_Intron|TPM3_ENST00000341485.5_Silent_p.L155L|TPM3_ENST00000341372.3_Silent_p.L146L|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000271850.7_Silent_p.L208L|TPM3_ENST00000323144.7_Intron|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000368531.2_Silent_p.L171L|TPM3_ENST00000328159.4_Silent_p.L171L|TPM3_ENST00000469717.1_5'UTR	NM_001043352.1|NM_001278188.1|NM_153649.3	NP_001036817.1|NP_001265117.1|NP_705935.1	P06753	TPM3_HUMAN	tropomyosin 3	207					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CAGCAGCACTCAGACACTTCA	0.473			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"								44	329					0	0	0	0	G	154144523	C	G	154144523	2	3	8	1	0	0	0	0	0	0	0	1	16502	813	29	2		2	TPM3	1	154144523	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	610557	154144523	95106098	36	1904											
ZBTB7B	51043	broad.mit.edu	37	chr1	154988249	154988249	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaggacccacacaggcgaGaagccctttgcctgcgaggt	10	6	13	12	2	0	2	0	1	0	1	0	5	0	3	3	3	3	0	3	3	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:154988249G>C	ENST00000368426.3	+	3	1250	c.1113G>C	c.(1111-1113)gaG>gaC	p.E371D	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E371D|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E371D|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E405D	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	371					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACACAGGCGAGAAGCCCTTTG	0.647													10	52					0	0	0	0	C	154988249	G	C	154988249	3	2	8	1	0	0	0	0	1	0	0	0	17649	933	33	2	1115	2	ZBTB7B	1	154988249	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	843726	154988249	94262372	37	1905											
ADAM15	8751	broad.mit.edu	37	chr1	155026830	155026830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagagagaagctataccctgGagcaggggcctggggacctt	10	6	15	10	0	0	2	0	0	0	2	0	5	0	4	3	5	3	2	3	5	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:155026830G>C	ENST00000356955.2	+	6	561	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	ADAM15_ENST00000449910.2_Missense_Mutation_p.E154Q|ADAM15_ENST00000271836.6_Missense_Mutation_p.E154Q|ADAM15_ENST00000359280.4_Missense_Mutation_p.E154Q|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000531455.1_Missense_Mutation_p.E164Q|ADAM15_ENST00000447332.3_Missense_Mutation_p.E138Q|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.E154Q|ADAM15_ENST00000368412.3_Missense_Mutation_p.E154Q|ADAM15_ENST00000360674.4_Missense_Mutation_p.E154Q	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	154					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTATACCCTGGAGCAGGGGCC	0.547													24	87					0	0	0	0	C	155026830	G	C	155026830	3	2	8	1	0	0	0	0	1	0	0	0	237	1175	41	2	482	2	ADAM15	1	155026830	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	38581	155026830	94223791	38	1906											
FDPS	2224	broad.mit.edu	37	chr1	155279943	155279943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatcgttagggtgctgactGaggatgagatggggcaccca	10	8	16	7	1	0	4	0	3	0	2	1	6	0	5	1	4	1	3	1	4	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:155279943G>A	ENST00000356657.6	+	3	448	c.286G>A	c.(286-288)Gag>Aag	p.E96K	FDPS_ENST00000487002.1_3'UTR|FDPS_ENST00000368356.4_Missense_Mutation_p.E96K|RP11-21N7.2_ENST00000429648.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.E30K	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	96					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GGTGCTGACTGAGGATGAGAT	0.512													18	64					0	0	0	0	A	155279943	G	A	155279943	3	1	8	1	0	0	0	0	1	0	0	0	5848	1291	45	2	292	2	FDPS	1	155279943	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	253113	155279943	93970678	39	1907											
YY1AP1	55249	broad.mit.edu	37	chr1	155629559	155629559	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctggatgccctgagggagCggctccagagcttgccttcc	5	9	13	14	1	0	2	0	1	0	1	3	4	3	4	5	3	4	2	5	3	0	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:155629559C>T	ENST00000368340.5	-	10	2604	c.2496G>A	c.(2494-2496)ccG>ccA	p.P832P	YY1AP1_ENST00000361831.5_Silent_p.P703P|YY1AP1_ENST00000407221.1_Silent_p.P683P|YY1AP1_ENST00000404643.1_Silent_p.P694P|YY1AP1_ENST00000311573.5_Silent_p.P683P|YY1AP1_ENST00000368330.2_Silent_p.P714P|YY1AP1_ENST00000368339.5_Silent_p.P852P|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000295566.4_Silent_p.P760P|YY1AP1_ENST00000347088.5_Silent_p.P714P|YY1AP1_ENST00000535662.1_Silent_p.P560P|YY1AP1_ENST00000355499.4_Silent_p.P714P|YY1AP1_ENST00000359205.5_Silent_p.P703P	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CCTGAGGGAGCGGCTCCAGAG	0.512													25	105					0	0	0	0	T	155629559	C	T	155629559	2	4	8	1	0	0	0	0	0	0	0	1	17604	755	27	1		1	YY1AP1	1	155629559	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	349616	155629559	93621062	40	1908											
LMX1A	4009	broad.mit.edu	37	chr1	165322354	165322354	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacagcttcttgtcccggtaGaagcaggtggtctccagggg	7	10	14	10	1	2	1	0	0	2	1	4	1	3	1	2	5	3	3	2	5	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:165322354G>A	ENST00000342310.3	-	3	604	c.222C>T	c.(220-222)ttC>ttT	p.F74F	LMX1A_ENST00000294816.2_Silent_p.F74F|LMX1A_ENST00000367893.4_Silent_p.F74F	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	74	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGTCCCGGTAGAAGCAGGTGG	0.602													16	91					0	0	0	0	A	165322354	G	A	165322354	2	1	8	1	0	0	0	0	0	0	0	1	8916	933	33	2		2	LMX1A	1	165322354	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	9692795	165322354	83928267	41	1909											
DNM3	26052	broad.mit.edu	37	chr1	172348233	172348233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggcaagtggagaccattCgcaacctcgtagactcctac	12	7	10	12	2	0	3	0	0	0	3	3	4	1	3	3	2	2	3	3	2	4	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:172348233C>T	ENST00000358155.4	+	18	2145	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	DNM3_ENST00000355305.5_Missense_Mutation_p.R663C|DNM3_ENST00000367731.1_Missense_Mutation_p.R653C	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	663					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGAGACCATTCGCAACCTCGT	0.383													7	35					0	0	0	0	T	172348233	C	T	172348233	3	4	8	1	0	0	0	0	1	0	0	0	4709	884	31	1	2039	1	DNM3	1	172348233	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7025879	172348233	76902388	42	1910											
TNN	63923	broad.mit.edu	37	chr1	175048789	175048789	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcggccacggcttctgtGacacgggcgagtgctactgc	6	7	15	13	4	1	1	0	1	1	0	1	2	1	1	1	3	4	3	1	3	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:175048789G>C	ENST00000239462.4	+	3	843	c.730G>C	c.(730-732)Gac>Cac	p.D244H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	244	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGGCTTCTGTGACACGGGCGA	0.662													3	15					0	0	0	0	C	175048789	G	C	175048789	3	2	8	1	0	0	0	0	1	0	0	0	16417	1290	45	2	736	2	TNN	1	175048789	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2700556	175048789	74201832	43	1911											
SOAT1	6646	broad.mit.edu	37	chr1	179311320	179311320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtactaaattcagctaaggaGaaatcaagtatgtaatttct	16	13	7	5	0	3	1	2	0	1	1	3	2	3	1	0	1	2	4	0	1	8	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:179311320G>C	ENST00000367619.3	+	8	995	c.852G>C	c.(850-852)gaG>gaC	p.E284D	SOAT1_ENST00000540564.1_Missense_Mutation_p.E226D|SOAT1_ENST00000539888.1_Missense_Mutation_p.E219D|SOAT1_ENST00000535686.1_Missense_Mutation_p.E20D	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	284					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CAGCTAAGGAGAAATCAAGTA	0.448													9	40					0	0	0	0	C	179311320	G	C	179311320	3	2	8	1	0	0	0	0	1	0	0	0	14998	933	33	2	878	2	SOAT1	1	179311320	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	4262531	179311320	69939301	44	1912											
CEP350	9857	broad.mit.edu	37	chr1	180080147	180080147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctaggttcaggagctccatGaggaggaggcacagtgggtg	9	7	17	8	0	1	1	1	1	0	0	2	4	2	4	2	6	1	3	2	6	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:180080147G>C	ENST00000367607.3	+	38	9623	c.9205G>C	c.(9205-9207)Gag>Cag	p.E3069Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	3069						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GGAGCTCCATGAGGAGGAGGC	0.413													14	71					0	0	0	0	C	180080147	G	C	180080147	3	2	8	1	0	0	0	0	1	0	0	0	3283	1291	45	2	9351	2	CEP350	1	180080147	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	768827	180080147	69170474	45	1913											
NCF2	4688	broad.mit.edu	37	chr1	183543724	183543724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttttttccattcctccttCttggcatacatgaaagcaat	9	16	5	11	0	1	1	0	1	1	0	4	1	4	1	3	1	2	3	3	1	3	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:183543724C>G	ENST00000367535.3	-	4	650	c.399G>C	c.(397-399)aaG>aaC	p.K133N	NCF2_ENST00000418089.1_Intron|NCF2_ENST00000367536.1_Missense_Mutation_p.K133N|NCF2_ENST00000413720.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	133					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ATTCCTCCTTCTTGGCATACA	0.438													27	79					0	0	0	0	G	183543724	C	G	183543724	3	3	8	1	0	0	0	0	1	0	0	0	10287	912	32	2	1229	2	NCF2	1	183543724	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3463577	183543724	65706897	46	1914											
FAM129A	116496	broad.mit.edu	37	chr1	184787891	184787891	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cactggtcccatgagctcctCcaggatggatgccaggaatg	9	8	12	12	0	0	1	0	1	0	0	3	4	3	4	4	4	2	1	4	4	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:184787891C>G	ENST00000367511.3	-	9	1247	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	352					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ATGAGCTCCTCCAGGATGGAT	0.527													28	189					0	0	0	0	G	184787891	C	G	184787891	3	3	8	1	0	0	0	0	1	0	0	0	5477	864	30	2	1756	2	FAM129A	1	184787891	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1244167	184787891	64462730	47	1915											
KCNT2	343450	broad.mit.edu	37	chr1	196395022	196395022	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctttaagggctgaaccttGaaggtagataactcgttggg	11	12	12	6	1	1	3	0	2	1	1	2	3	1	3	1	3	2	3	1	3	5	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:196395022G>C	ENST00000367433.5	-	11	1182	c.1081C>G	c.(1081-1083)Caa>Gaa	p.Q361E	KCNT2_ENST00000294725.8_Missense_Mutation_p.Q361E|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q361E			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	361						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTGAACCTTGAAGGTAGATA	0.403													29	59					0	0	0	0	C	196395022	G	C	196395022	3	2	8	1	0	0	0	0	1	0	0	0	8145	1299	45	2	2398	2	KCNT2	1	196395022	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	11607131	196395022	52855599	48	1916											
IRF6	3664	broad.mit.edu	37	chr1	209969798	209969798	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcatacatcaggttgaattCtctgctcttattgagagcac	11	14	7	9	0	4	2	2	2	2	1	5	3	4	2	0	1	3	3	0	1	3	5	rs121434224		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:209969798C>G	ENST00000367021.3	-	4	446	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	92					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E92K(2)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGGTTGAATTCTCTGCTCTTA	0.532										HNSCC(57;0.16)			21	41					0	0	0	0	G	209969798	C	G	209969798	3	3	8	1	0	0	0	0	1	0	0	0	7887	922	32	2	1153	2	IRF6	1	209969798	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	13574776	209969798	39280823	49	1917											
TATDN3	128387	broad.mit.edu	37	chr1	212977943	212977943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatcgttaaacagaaatgTgcactcacgctctgctggaa	12	11	9	9	2	2	1	1	0	1	1	3	2	2	2	0	1	3	5	0	1	5	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:212977943T>C	ENST00000366974.4	+	7	531	c.437T>C	c.(436-438)gTg>gCg	p.V146A	TATDN3_ENST00000532324.1_Missense_Mutation_p.V146A|TATDN3_ENST00000526641.1_Missense_Mutation_p.V125A|TATDN3_ENST00000526997.1_Missense_Mutation_p.V146A|TATDN3_ENST00000366973.4_Missense_Mutation_p.V146A|TATDN3_ENST00000531963.1_Missense_Mutation_p.V146A|TATDN3_ENST00000525569.1_3'UTR	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	146						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		AACAGAAATGTGCACTCACGC	0.338													6	39					0	0	0	0	C	212977943	T	C	212977943	3	2	8	1	0	0	0	0	1	0	0	0	15684	1696	59	5	463	5	TATDN3	1	212977943	Missense_Mutation	SNP	T	TCGA-BA-5152-01A-02D-1870-08	3008145	212977943	36272678	50	1918											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649741	232649741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacacctgcatttgtgcagtGagagctgagtgacgattcga	10	10	13	8	2	0	3	0	3	0	1	1	7	0	3	1	0	3	3	1	0	0	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:232649741G>A	ENST00000366630.1	-	2	1703	c.1345C>T	c.(1345-1347)Cac>Tac	p.H449Y	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.H449Y			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	449					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTGTGCAGTGAGAGCTGAGT	0.522													46	142					0	0	0	0	A	232649741	G	A	232649741	3	1	8	1	0	0	0	0	1	0	0	0	14418	1290	45	2	3907	2	SIPA1L2	1	232649741	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	19671798	232649741	16600880	51	1919											
OR2L3	391192	broad.mit.edu	37	chr1	248224207	248224207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacctaaattacatctccaCcattgttcctaagatggcat	12	13	5	11	0	1	2	0	1	1	1	3	2	2	2	4	1	1	2	4	1	4	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:248224207C>G	ENST00000359959.3	+	1	224	c.224C>G	c.(223-225)aCc>aGc	p.T75S	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TACATCTCCACCATTGTTCCT	0.438													48	274					0	0	0	0	G	248224207	C	G	248224207	3	3	8	1	0	0	0	0	1	0	0	0	11079	507	18	4	226	4	OR2L3	1	248224207	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	15574466	248224207	1026414	52	1920											
PGBD2	267002	broad.mit.edu	37	chr1	249211312	249211312	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaatttgagtcttacggctCaggaattgaagtgtgttttg	9	16	11	5	1	3	2	2	2	1	0	3	3	3	3	0	2	1	2	0	2	4	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:249211312C>T	ENST00000539153.1	+	4	775	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Nonsense_Mutation_p.Q177*|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	177										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTTACGGCTCAGGAATTGAA	0.368													20	120					0	0	0	0	T	249211312	C	T	249211312	4	4	8	1	0	0	0	0	0	1	0	0	11853	827	29	2	535	2	PGBD2	1	249211312	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	987105	249211312	39309	53	1921											
RSAD2	91543	broad.mit.edu	37	chr2	7023543	7023543	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtggagagccatttcttCaagaccggggagaatacctg	11	8	13	9	1	2	3	1	0	1	3	2	5	2	3	3	4	2	0	3	4	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:7023543C>G	ENST00000382040.3	+	2	524	c.388C>G	c.(388-390)Caa>Gaa	p.Q130E	RSAD2_ENST00000541728.1_Missense_Mutation_p.Q23E	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	130					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GCCATTTCTTCAAGACCGGGG	0.453													12	88					0	0	0	0	G	7023543	C	G	7023543	3	3	8	1	0	0	0	0	1	0	0	0	13780	827	29	2	394	2	RSAD2	2	7023543	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08		7023543	236175830	54	1922											
ADAM17	6868	broad.mit.edu	37	chr2	9630344	9630344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcaacacgattctgacGctgcagtttaaaggaggcag	11	9	12	9	2	2	1	1	1	1	0	2	3	2	2	0	2	2	5	0	2	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:9630344G>A	ENST00000310823.3	-	19	2619	c.2437C>T	c.(2437-2439)Cgt>Tgt	p.R813C	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	813					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CGATTCTGACGCTGCAGTTTA	0.438													5	67					0	0	0	0	A	9630344	G	A	9630344	3	1	8	1	0	0	0	0	1	0	0	0	238	1087	38	1	41	1	ADAM17	2	9630344	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2606801	9630344	233569029	55	1923											
TRIB2	28951	broad.mit.edu	37	chr2	12858450	12858450	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcatgaacatacacaggtCtacccccatcacaatagcga	15	7	5	14	1	3	1	2	1	1	0	3	2	3	1	2	1	4	0	2	1	5	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:12858450C>G	ENST00000155926.4	+	1	1436	c.17C>G	c.(16-18)tCt>tGt	p.S6C	TRIB2_ENST00000405331.3_Missense_Mutation_p.S6C|TRIB2_ENST00000381465.2_Intron	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	6					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATACACAGGTCTACCCCCATC	0.537											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	62					0	0	0	0	G	12858450	C	G	12858450	3	3	8	1	0	0	0	0	1	0	0	0	16578	913	32	2	19	2	TRIB2	2	12858450	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3228106	12858450	230340923	56	1924											
APOB	338	broad.mit.edu	37	chr2	21226113	21226113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcaagccagaagctgcctCttcttcccaattaactttga	11	12	6	12	0	2	2	0	1	2	1	3	2	3	2	3	0	5	2	3	0	5	5	rs121918385		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:21226113C>T	ENST00000233242.1	-	29	12308	c.12181G>A	c.(12181-12183)Gag>Aag	p.E4061K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4061					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAAGCTGCCTCTTCTTCCCAA	0.453													107	295					0	0	0	0	T	21226113	C	T	21226113	3	4	8	1	0	0	0	0	1	0	0	0	787	922	32	2	1514	2	APOB	2	21226113	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	8367663	21226113	221973260	57	1925											
ATAD2B	54454	broad.mit.edu	37	chr2	23980730	23980730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcccctggtccaagtccatGatgtcacaggatgattcatc	9	11	9	12	0	2	2	2	2	0	0	5	3	4	3	4	2	1	0	4	2	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:23980730G>A	ENST00000238789.5	-	25	3979	c.3636C>T	c.(3634-3636)atC>atT	p.I1212I	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1212							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGTCCATGATGTCACAGG	0.443													31	101					0	0	0	0	A	23980730	G	A	23980730	2	1	8	1	0	0	0	0	0	0	0	1	1076	1280	45	2		2	ATAD2B	2	23980730	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2754617	23980730	219218643	58	1926											
C2orf44	80304	broad.mit.edu	37	chr2	24255769	24255769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccttagtttaccatcacaGagaagcaccgctcttttttc	10	13	6	12	1	2	1	1	0	1	1	3	2	2	1	3	0	3	3	3	0	3	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:24255769G>A	ENST00000295148.4	-	3	1923	c.1866C>T	c.(1864-1866)ctC>ctT	p.L622L	C2orf44_ENST00000406895.3_Intron	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	622							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCATCACAGAGAAGCACCG	0.383			T	ALK	NSCLC								46	151					0	0	0	0	A	24255769	G	A	24255769	2	1	8	1	0	0	0	0	0	0	0	1	2188	929	33	2		2	C2orf44	2	24255769	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	275039	24255769	218943604	59	1927											
TMEM214	54867	broad.mit.edu	37	chr2	27263361	27263361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcactgccatgaggcatGcaggtgagacctttgcccag	9	7	14	11	0	0	2	0	2	0	1	0	4	0	3	3	3	4	3	3	3	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:27263361G>A	ENST00000238788.9	+	16	2002	c.1940G>A	c.(1939-1941)tGc>tAc	p.C647Y	TMEM214_ENST00000404032.3_Missense_Mutation_p.C602Y	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	647						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CATGAGGCATGCAGGTGAGAC	0.637													5	56					0	0	0	0	A	27263361	G	A	27263361	3	1	8	1	0	0	0	0	1	0	0	0	16231	1319	46	4	2002	4	TMEM214	2	27263361	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3007592	27263361	215936012	60	1928											
GTF3C2	2976	broad.mit.edu	37	chr2	27566224	27566224	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctctggagggagcctcctCtgatcaggagaatcctcaaa	10	9	11	11	0	4	2	2	1	2	1	6	5	6	4	3	3	2	1	3	3	2	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:27566224C>G	ENST00000359541.2	-	2	627	c.198G>C	c.(196-198)caG>caC	p.Q66H	GTF3C2_ENST00000264720.3_Missense_Mutation_p.Q66H			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	66						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCCTCCTCTGATCAGGAG	0.488													9	282					0	0	0	0	G	27566224	C	G	27566224	3	3	8	1	0	0	0	0	1	0	0	0	6923	912	32	2	2609	2	GTF3C2	2	27566224	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	302863	27566224	215633149	61	1929			1	3		4	4	78	C		4.982009e-10
GTF3C2	2976	broad.mit.edu	37	chr2	27566241	27566241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctgatcaggagaatcctCaaatccaggcaaaggggtag	13	7	11	10	0	3	2	2	1	1	1	5	3	5	2	3	4	0	2	3	4	4	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:27566241C>G	ENST00000359541.2	-	2	610	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	GTF3C2_ENST00000264720.3_Missense_Mutation_p.E61Q			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	61						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGAATCCTCAAATCCAGGC	0.488													5	260					0	0	0	0	G	27566241	C	G	27566241	3	3	8	1	0	0	0	0	1	0	0	0	6923	835	29	2	2626	2	GTF3C2	2	27566241	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	17	27566241	215633132	62	1930			1	3		4	4	78	C		4.982009e-10
GTF3C2	2976	broad.mit.edu	37	chr2	27566274	27566274	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggtaggtaatgacatctCtacggaagcctctgcactgg	10	9	13	9	1	2	1	0	1	2	0	3	2	2	2	1	5	3	3	1	5	4	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:27566274C>G	ENST00000359541.2	-	2	577	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	GTF3C2_ENST00000264720.3_Missense_Mutation_p.E50Q			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	50						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGACATCTCTACGGAAGCC	0.522													5	254					0	0	0	0	G	27566274	C	G	27566274	3	3	8	1	0	0	0	0	1	0	0	0	6923	922	32	2	2659	2	GTF3C2	2	27566274	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	33	27566274	215633099	63	1931			1	3		4	4	78	C		4.982009e-10
GTF3C2	2976	broad.mit.edu	37	chr2	27566301	27566301	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctgcactggtcatttCtgaagaggtcttgacatcaa	10	12	9	10	0	5	3	2	2	3	1	5	3	5	3	1	2	2	1	1	2	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:27566301C>A	ENST00000359541.2	-	2	550	c.121G>T	c.(121-123)Gaa>Taa	p.E41*	GTF3C2_ENST00000264720.3_Nonsense_Mutation_p.E41*			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	41						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTCATTTCTGAAGAGGTC	0.542													6	239					2.52707e-12	2.68431e-12	1	0	A	27566301	C	A	27566301	4	1	8	1	0	0	0	0	0	1	0	0	6923	922	32	2	2686	2	GTF3C2	2	27566301	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	27	27566301	215633072	64	1932			1	3		4	4	78	C		4.982009e-10
SPDYA	245711	broad.mit.edu	37	chr2	29063067	29063067	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgcaccaacccattatatCtggcaaagagaacgttctgt	13	11	7	10	1	2	1	0	0	2	1	2	2	2	1	2	1	3	3	2	1	5	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:29063067C>T	ENST00000334056.5	+	7	771	c.582C>T	c.(580-582)atC>atT	p.I194I	SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Silent_p.I194I	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	194	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CCCATTATATCTGGCAAAGAG	0.378													7	37					0	0	0	0	T	29063067	C	T	29063067	2	4	8	1	0	0	0	0	0	0	0	1	15117	903	32	2		2	SPDYA	2	29063067	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1496766	29063067	214136306	65	1933											
C2orf71	388939	broad.mit.edu	37	chr2	29294902	29294902	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccccagcatcctcagactCtccgtgggactgaaagtttc	8	10	8	15	1	2	2	1	1	1	1	6	3	4	3	4	1	1	2	4	1	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:29294902C>T	ENST00000331664.5	-	1	2225	c.2226G>A	c.(2224-2226)gaG>gaA	p.E742E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	742					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCCTCAGACTCTCCGTGGGAC	0.562													27	65					0	0	0	0	T	29294902	C	T	29294902	2	4	8	1	0	0	0	0	0	0	0	1	2211	912	32	2		2	C2orf71	2	29294902	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	231835	29294902	213904471	66	1934											
XDH	7498	broad.mit.edu	37	chr2	31598258	31598258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactcacgtcttccaggttCtcttggcccagcttctgaag	6	12	8	15	1	4	1	1	1	3	0	6	1	5	1	3	2	1	2	3	2	1	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:31598258C>T	ENST00000379416.3	-	15	1638	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	530					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTTCCAGGTTCTCTTGGCCCA	0.552													39	120					0	0	0	0	T	31598258	C	T	31598258	2	4	8	1	0	0	0	0	0	0	0	1	17522	912	32	2		2	XDH	2	31598258	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2303356	31598258	211601115	67	1935											
CDKL4	344387	broad.mit.edu	37	chr2	39406448	39406448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttaatctgtcatctggattCatcttcagacacccctttgg	8	15	7	11	0	6	1	3	0	3	1	6	2	6	2	2	2	0	1	2	2	1	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:39406448C>T	ENST00000378803.1	-	8	806	c.807G>A	c.(805-807)atG>atA	p.M269I	CDKL4_ENST00000395035.3_Missense_Mutation_p.M269I	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	269	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				CATCTGGATTCATCTTCAGAC	0.423													14	90					0	0	0	0	T	39406448	C	T	39406448	3	4	8	1	0	0	0	0	1	0	0	0	3185	826	29	2	144	2	CDKL4	2	39406448	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7808190	39406448	203792925	68	1936											
SIX3	6496	broad.mit.edu	37	chr2	45169453	45169453	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggctcCagggcccccccggaagagtt	4	3	19	15	6	0	1	0	0	0	1	1	2	1	2	4	8	0	2	4	8	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:45169453C>T	ENST00000260653.3	+	1	552	c.210C>T	c.(208-210)tcC>tcT	p.S70S		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	70					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				gcggcggcTCCAGGGCCCCCC	0.771													4	9					0	0	0	0	T	45169453	C	T	45169453	2	4	8	1	0	0	0	0	0	0	0	1	14436	581	21	4		4	SIX3	2	45169453	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	5763005	45169453	198029920	69	1937											
RHOQ	23433	broad.mit.edu	37	chr2	46770215	46770215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcccggcgcgctgatgctCaagtgcgtggtggtcggcga	4	7	19	11	6	1	1	1	1	0	0	2	2	1	1	1	5	2	2	1	5	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:46770215C>T	ENST00000238738.4	+	1	349	c.30C>T	c.(28-30)ctC>ctT	p.L10L	RHOQ_ENST00000465198.1_Intron	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	10					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CGCTGATGCTCAAGTGCGTGG	0.736													6	49					0	0	0	0	T	46770215	C	T	46770215	2	4	8	1	0	0	0	0	0	0	0	1	13425	813	29	2		2	RHOQ	2	46770215	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1600762	46770215	196429158	70	1938											
SOCS5	9655	broad.mit.edu	37	chr2	46986870	46986870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgaagggaaacctgaaGgcacgtttttgctcagggac	10	10	12	9	2	2	1	1	1	1	0	3	4	2	3	1	3	2	3	1	3	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:46986870G>T	ENST00000306503.5	+	2	1373	c.1201G>T	c.(1201-1203)Ggc>Tgc	p.G401C	SOCS5_ENST00000394861.2_Missense_Mutation_p.G401C	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	401	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GAAACCTGAAGGCACGTTTTT	0.527													26	78					7.92952e-12	8.39803e-12	1	0	T	46986870	G	T	46986870	3	4	8	1	0	0	0	0	1	0	0	0	15005	1000	35	4	1203	4	SOCS5	2	46986870	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	216655	46986870	196212503	71	1939											
FBXO11	80204	broad.mit.edu	37	chr2	48063095	48063095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattttccaggttcaggatgCatcatagggcgagtatattc	11	13	10	7	1	2	0	2	0	0	0	4	2	3	1	1	3	1	3	1	3	4	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:48063095C>T	ENST00000403359.3	-	5	705	c.633G>A	c.(631-633)atG>atA	p.M211I	FBXO11_ENST00000316377.4_Missense_Mutation_p.M127I|FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Missense_Mutation_p.M127I	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	211					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTCAGGATGCATCATAGGGC	0.328			"Mis, F, D"		DLBCL								7	54					0	0	0	0	T	48063095	C	T	48063095	3	4	8	1	0	0	0	0	1	0	0	0	5772	710	25	4	2316	4	FBXO11	2	48063095	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1076225	48063095	195136278	72	1940											
SPTBN1	6711	broad.mit.edu	37	chr2	54852072	54852072	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctatgagggagacttggctGagcgaaaaccagcgtctggt	10	8	15	8	2	1	3	0	2	1	1	1	5	1	3	1	3	3	2	1	3	3	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:54852072G>A	ENST00000333896.5	+	10	1660	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	SPTBN1_ENST00000356805.4_Silent_p.L438L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	438					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGACTTGGCTGAGCGAAAACC	0.488													6	102					0	0	0	0	A	54852072	G	A	54852072	2	1	8	1	0	0	0	0	0	0	0	1	15209	1277	45	2		2	SPTBN1	2	54852072	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	6788977	54852072	188347301	73	1941											
MTIF2	4528	broad.mit.edu	37	chr2	55471167	55471167	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaattaagcttgatacacctCagattctacttcaagaattt	14	14	5	8	0	3	3	2	1	1	2	3	4	3	3	1	0	3	1	1	0	6	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:55471167C>G	ENST00000394600.3	-	12	2045	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	MTIF2_ENST00000403721.1_Missense_Mutation_p.E437Q|MTIF2_ENST00000263629.4_Missense_Mutation_p.E437Q	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	437					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TGATACACCTCAGATTCTACT	0.338													7	31					0	0	0	0	G	55471167	C	G	55471167	3	3	8	1	0	0	0	0	1	0	0	0	10004	835	29	2	898	2	MTIF2	2	55471167	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	619095	55471167	187728206	74	1942											
CCDC104	112942	broad.mit.edu	37	chr2	55747049	55747049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttgtggaacagaaatgtGaaggtaaaaaccagagcccg	16	7	11	7	1	0	3	0	1	0	2	0	4	0	4	2	2	3	1	2	2	6	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:55747049G>A	ENST00000349456.4	+	1	260	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	CCDC104_ENST00000403007.3_Missense_Mutation_p.E38K|CCDC104_ENST00000406691.3_Missense_Mutation_p.E38K|CCDC104_ENST00000407816.3_Missense_Mutation_p.E38K|CCDC104_ENST00000339012.3_Missense_Mutation_p.E38K			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	38										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACAGAAATGTGAAGGTAAAAA	0.567													26	50					0	0	0	0	A	55747049	G	A	55747049	3	1	8	1	0	0	0	0	1	0	0	0	2764	1291	45	2	114	2	CCDC104	2	55747049	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	275882	55747049	187452324	75	1943											
ETAA1	54465	broad.mit.edu	37	chr2	67630409	67630409	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaactggctaaacaatttGataaaaatatggaagagcta	19	10	8	4	0	0	3	0	2	0	1	0	4	0	4	0	2	3	2	0	2	10	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:67630409G>C	ENST00000272342.5	+	5	725	c.595G>C	c.(595-597)Gat>Cat	p.D199H	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	199						cytoplasm|nucleus		p.D199H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TAAACAATTTGATAAAAATAT	0.259													29	65					0	0	0	0	C	67630409	G	C	67630409	3	2	8	1	0	0	0	0	1	0	0	0	5305	1290	45	2	613	2	ETAA1	2	67630409	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	11883360	67630409	175568964	76	1944											
CLEC4F	165530	broad.mit.edu	37	chr2	71043679	71043679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcagcattggctccttcCaaactatttcttaaaacctg	11	14	4	12	0	2	0	1	0	2	0	5	0	4	0	3	1	3	2	3	1	4	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:71043679C>A	ENST00000272367.2	-	4	910	c.834G>T	c.(832-834)ttG>ttT	p.L278F	CLEC4F_ENST00000426626.1_Missense_Mutation_p.L278F	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	278					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGGCTCCTTCCAAACTATTTC	0.408													32	114					3.99451e-17	4.27472e-17	1	0	A	71043679	C	A	71043679	3	1	8	1	0	0	0	0	1	0	0	0	3546	593	21	4	951	4	CLEC4F	2	71043679	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3413270	71043679	172155694	77	1945											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73303223	73303223	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttctccagcccactgctCagggctatgctcagactgga	8	9	10	14	0	3	1	2	0	1	1	4	2	3	2	2	2	4	4	2	2	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:73303223C>T	ENST00000258098.6	-	4	1896	c.1656G>A	c.(1654-1656)ctG>ctA	p.L552L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	552					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCCCACTGCTCAGGGCTATGC	0.622													27	261					0	0	0	0	T	73303223	C	T	73303223	2	4	8	1	0	0	0	0	0	0	0	1	12979	813	29	2		2	RAB11FIP5	2	73303223	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2259544	73303223	169896150	78	1946											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73339833	73339833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcccgcgggcccgcagcaCcgtcacctggacgtgcgtgg	5	4	15	17	6	1	0	1	0	0	0	1	1	1	1	4	3	3	2	4	3	0	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:73339833C>T	ENST00000258098.6	-	1	313	c.73G>A	c.(73-75)Gtg>Atg	p.V25M		NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	25	C2.				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCCCGCAGCACCGTCACCTGG	0.751													3	3					0	0	0	0	T	73339833	C	T	73339833	3	4	8	1	0	0	0	0	1	0	0	0	12979	507	18	4	1908	4	RAB11FIP5	2	73339833	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	36610	73339833	169859540	79	1947											
TPRKB	51002	broad.mit.edu	37	chr2	73959362	73959362	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatttttcccagtttgtaGaggtgaactgctttgtttgc	6	19	9	7	0	1	2	1	1	0	1	2	2	2	2	1	1	3	4	1	1	2	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:73959362G>C	ENST00000318190.7	-	4	429	c.309C>G	c.(307-309)ctC>ctG	p.L103L	TPRKB_ENST00000272424.5_Silent_p.L64L|TPRKB_ENST00000409716.2_Silent_p.L103L			Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	64					protein catabolic process	cytosol|nucleus	protein kinase binding			lung(2)|ovary(1)|skin(1)	4						CCAGTTTGTAGAGGTGAACTG	0.358													23	52					0	0	0	0	C	73959362	G	C	73959362	2	2	8	1	0	0	0	0	0	0	0	1	16515	929	33	2		2	TPRKB	2	73959362	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	619529	73959362	169240011	80	1948											
RTKN	6242	broad.mit.edu	37	chr2	74657432	74657432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtcctgtccactaggatCatctctgtgtcctggatgtg	6	13	12	10	0	2	0	1	0	1	0	6	2	5	2	3	3	0	0	3	3	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:74657432C>T	ENST00000305557.5	-	6	1038	c.453G>A	c.(451-453)atG>atA	p.M151I	RTKN_ENST00000233330.6_Missense_Mutation_p.M114I|RTKN_ENST00000272430.5_Missense_Mutation_p.M164I	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	164					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CCACTAGGATCATCTCTGTGT	0.547													7	36					0	0	0	0	T	74657432	C	T	74657432	3	4	8	1	0	0	0	0	1	0	0	0	13807	826	29	2	1231	2	RTKN	2	74657432	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	698070	74657432	168541941	81	1949											
LRRTM4	80059	broad.mit.edu	37	chr2	76975904	76975904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctgtggtctcggcccagctCcaggccggggctttcgtcct	2	10	14	15	3	1	0	0	0	1	0	5	0	3	0	4	5	1	3	4	5	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:76975904C>G	ENST00000409911.1	-	3	1916	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	LRRTM4_ENST00000409884.1_Missense_Mutation_p.E564Q|LRRTM4_ENST00000409093.1_Missense_Mutation_p.E564Q	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	564						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CGGCCCAGCTCCAGGCCGGGG	0.602													32	121					0	0	0	0	G	76975904	C	G	76975904	3	3	8	1	0	0	0	0	1	0	0	0	9106	864	30	2	86	2	LRRTM4	2	76975904	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2318472	76975904	166223469	82	1950											
ZNF514	84874	broad.mit.edu	37	chr2	95815860	95815860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttttatctgctgcatctCtaactggccatcacaaccgc	8	13	6	14	1	3	0	1	0	2	0	4	0	3	0	2	1	4	3	2	1	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:95815860C>T	ENST00000295208.2	-	5	832	c.370G>A	c.(370-372)Gag>Aag	p.E124K	ZNF514_ENST00000411425.1_Missense_Mutation_p.E124K	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGCTGCATCTCTAACTGGCCA	0.423													40	82					0	0	0	0	T	95815860	C	T	95815860	3	4	8	1	0	0	0	0	1	0	0	0	18054	922	32	2	836	2	ZNF514	2	95815860	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	18839956	95815860	147383513	83	1951											
ZNF514	84874	broad.mit.edu	37	chr2	95818421	95818421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcactcactcactcacctGagtgggctcctgttgagatt	7	14	8	12	0	4	2	4	2	0	1	5	3	5	2	2	1	0	2	2	1	0	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:95818421G>A	ENST00000295208.2	-	4	677	c.215C>T	c.(214-216)tCa>tTa	p.S72L	ZNF514_ENST00000411425.1_Missense_Mutation_p.S72L	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TCACTCACCTGAGTGGGCTCC	0.522													54	150					0	0	0	0	A	95818421	G	A	95818421	3	1	8	1	0	0	0	0	1	0	0	0	18054	1294	45	2	995	2	ZNF514	2	95818421	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2561	95818421	147380952	84	1952											
FER1L5	90342	broad.mit.edu	37	chr2	97361634	97361634	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagactatatgcacccaaaGcttccaagtacggcccttcc	12	8	6	15	1	0	1	0	0	0	1	2	1	2	1	4	1	3	3	4	1	6	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:97361634G>C	ENST00000457909.1	+	0	3553							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TGCACCCAAAGCTTCCAAGTA	0.632													6	29					0	0	0	0	C	97361634	G	C	97361634	1	2	8	0	1	0	0	0	0	0	0	0	5859	962	34	4		4	FER1L5	2	97361634	RNA	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1543213	97361634	145837739	85	1953											
ZC3H8	84524	broad.mit.edu	37	chr2	112989456	112989456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaggagtcagtggagcatGagaaaacttgcagtattctc	12	11	11	7	0	3	1	2	1	1	1	4	4	3	3	0	2	3	3	0	2	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:112989456G>A	ENST00000409573.1	-	7	931	c.802C>T	c.(802-804)Cat>Tat	p.H268Y	ZC3H8_ENST00000476902.1_5'UTR|ZC3H8_ENST00000272570.5_Missense_Mutation_p.H268Y			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	268					apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						AGTGGAGCATGAGAAAACTTG	0.303													20	81					0	0	0	0	A	112989456	G	A	112989456	3	1	8	1	0	0	0	0	1	0	0	0	17669	1290	45	2	81	2	ZC3H8	2	112989456	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	15627822	112989456	130209917	86	1954											
POLR1B	84172	broad.mit.edu	37	chr2	113322029	113322029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgtcatggttggctgggtgGataaggatcttgctccaggc	6	12	16	7	0	2	0	1	0	1	0	3	2	3	2	1	6	1	3	1	6	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:113322029G>C	ENST00000263331.5	+	10	2279	c.1699G>C	c.(1699-1701)Gat>Cat	p.D567H	POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000417433.2_Missense_Mutation_p.D511H|POLR1B_ENST00000537335.1_Missense_Mutation_p.D356H|POLR1B_ENST00000541869.1_Missense_Mutation_p.D605H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	567					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TGGCTGGGTGGATAAGGATCT	0.507													42	212					0	0	0	0	C	113322029	G	C	113322029	3	2	8	1	0	0	0	0	1	0	0	0	12282	1174	41	2	1737	2	POLR1B	2	113322029	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	332573	113322029	129877344	87	1955											
KYNU	8942	broad.mit.edu	37	chr2	143790866	143790866	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcctcccattttgttggtCtgttccttgcatgctagttt	5	19	7	10	0	1	0	0	0	1	0	4	0	4	0	3	1	2	5	3	1	2	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:143790866C>G	ENST00000264170.4	+	12	1275	c.1017C>G	c.(1015-1017)gtC>gtG	p.V339V	KYNU_ENST00000409512.1_Silent_p.V339V	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	339					anthranilate metabolic process|NAD biosynthetic 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)	TTTTGTTGGTCTGTTCCTTGC	0.378													10	179					0	0	0	0	G	143790866	C	G	143790866	2	3	8	1	0	0	0	0	0	0	0	1	8640	900	32	2		2	KYNU	2	143790866	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	30468837	143790866	99408507	88	1956											
LRP2	4036	broad.mit.edu	37	chr2	170115654	170115654	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgagagtctgtccaataGagattctttgaaatccaatc	14	13	7	7	0	2	3	0	2	2	2	5	5	4	3	2	0	0	0	2	0	5	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:170115654G>T	ENST00000263816.3	-	17	2679	c.2394C>A	c.(2392-2394)ctC>ctA	p.L798L	LRP2_ENST00000443831.1_Silent_p.L661L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	798					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGTCCAATAGAGATTCTTTG	0.378													38	66					2.05212e-20	2.20595e-20	1	0	T	170115654	G	T	170115654	2	4	8	1	0	0	0	0	0	0	0	1	9020	929	33	2		2	LRP2	2	170115654	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	26324788	170115654	73083719	89	1957											
HAT1	8520	broad.mit.edu	37	chr2	172822934	172822934	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgttttatctgcagatttGagaagtataataaggatgga	13	15	10	3	0	2	2	0	1	2	2	2	5	2	4	0	2	1	3	0	2	5	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:172822934G>C	ENST00000264108.4	+	7	652	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.E121Q	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	206					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CTGCAGATTTGAGAAGTATAA	0.438													3	40					0	0	0	0	C	172822934	G	C	172822934	3	2	8	1	0	0	0	0	1	0	0	0	7014	1291	45	2	642	2	HAT1	2	172822934	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2707280	172822934	70376439	90	1958											
EVX2	344191	broad.mit.edu	37	chr2	176948129	176948129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgaggcccccgggggagcGaagcgcggagcagcccacct	7	1	17	16	5	0	0	0	0	0	0	0	4	0	2	5	4	4	1	5	4	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:176948129G>A	ENST00000308618.4	-	1	512	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCGGGGGAGCGAAGCGCGGAG	0.682													6	13					0	0	0	0	A	176948129	G	A	176948129	3	1	8	1	0	0	0	0	1	0	0	0	5332	1058	37	1	1064	1	EVX2	2	176948129	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	4125195	176948129	66251244	91	1959											
TTC30B	150737	broad.mit.edu	37	chr2	178415907	178415907	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcatcataagagagctgctCttcctccttttcaatcttcc	8	15	5	13	0	5	1	3	0	2	1	8	2	8	1	3	0	2	2	3	0	2	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:178415907C>G	ENST00000408939.2	-	1	1835	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	529					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GAGAGCTGCTCTTCCTCCTTT	0.378													64	143					0	0	0	0	G	178415907	C	G	178415907	3	3	8	1	0	0	0	0	1	0	0	0	16795	922	32	2	416	2	TTC30B	2	178415907	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1467778	178415907	64783466	92	1960											
TTN	7273	broad.mit.edu	37	chr2	179428814	179428814	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaacattgctgagtttcaGaatatattgtcctccatcag	12	13	6	10	0	2	2	2	1	0	1	4	2	4	2	3	0	2	2	3	0	4	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:179428814G>C	ENST00000589042.1	-	326	82269	c.82045C>G	c.(82045-82047)Ctg>Gtg	p.L27349V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L18284V|TTN_ENST00000342992.6_Missense_Mutation_p.L24781V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L18409V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L18476V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L25708V|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25708	Fibronectin type-III 99.						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)			CTGAGTTTCAGAATATATTGT	0.413													29	173					0	0	0	0	C	179428814	G	C	179428814	3	2	8	1	0	0	0	0	1	0	0	0	16831	933	33	2	26082	2	TTN	2	179428814	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1012907	179428814	63770559	93	1961											
TTN	7273	broad.mit.edu	37	chr2	179572396	179572396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgaagctgcatctgtctGaaggctttatttccctgcca	8	13	9	11	0	2	2	0	2	2	0	3	2	3	2	2	1	4	4	2	1	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:179572396G>A	ENST00000589042.1	-	100	29122	c.28898C>T	c.(28897-28899)tCa>tTa	p.S9633L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8389L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S9316L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9316							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)			GCATCTGTCTGAAGGCTTTAT	0.483													18	36					0	0	0	0	A	179572396	G	A	179572396	3	1	8	1	0	0	0	0	1	0	0	0	16831	1294	45	2	75683	2	TTN	2	179572396	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	143582	179572396	63626977	94	1962											
TTN	7273	broad.mit.edu	37	chr2	179611231	179611231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggtgttcttgatgatgtgGtgtgttccaaatcaaactcc	10	14	10	7	0	2	2	1	2	1	0	4	2	4	2	2	2	1	2	2	2	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:179611231G>A	ENST00000360870.5	-	46	16118	c.15896C>T	c.(15895-15897)aCc>aTc	p.T5299I	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8817	Ig-like 33.						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)			TGATGATGTGGTGTGTTCCAA	0.408													13	34					0	0	0	0	A	179611231	G	A	179611231	3	1	8	1	0	0	0	0	1	0	0	0	16831	1261	44	4	94401	4	TTN	2	179611231	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	38835	179611231	63588142	95	1963											
CFLAR	8837	broad.mit.edu	37	chr2	202025553	202025553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgtgcacagttcaccgaGaagctgacttcttctggagc	8	10	12	11	1	3	2	1	1	2	1	3	4	3	3	1	2	3	4	1	2	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:202025553G>A	ENST00000309955.2	+	9	1707	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CFLAR_ENST00000479953.2_Missense_Mutation_p.E302K|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000457277.1_Missense_Mutation_p.E398K|CFLAR_ENST00000423241.2_Missense_Mutation_p.E398K|CFLAR_ENST00000341582.6_Missense_Mutation_p.E363K|CFLAR_ENST00000340870.5_Missense_Mutation_p.E398K|CFLAR_ENST00000443227.1_Missense_Mutation_p.E302K	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	398	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						AGTTCACCGAGAAGCTGACTT	0.577													15	33					0	0	0	0	A	202025553	G	A	202025553	3	1	8	1	0	0	0	0	1	0	0	0	3321	943	33	2	1286	2	CFLAR	2	202025553	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	22414322	202025553	41173820	96	1964											
ALS2	57679	broad.mit.edu	37	chr2	202625889	202625889	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtttcagtggaggggctGagagcagtgctggcatggtt	7	10	19	5	0	1	1	1	1	0	1	1	3	1	2	0	6	2	6	0	6	0	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:202625889G>A	ENST00000264276.6	-	4	1200	c.828C>T	c.(826-828)ctC>ctT	p.L276L	ALS2_ENST00000467448.1_Silent_p.L276L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	276					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGGAGGGGCTGAGAGCAGTGC	0.453													22	46					0	0	0	0	A	202625889	G	A	202625889	2	1	8	1	0	0	0	0	0	0	0	1	550	1277	45	2		2	ALS2	2	202625889	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	600336	202625889	40573484	97	1965											
C2orf62	375307	broad.mit.edu	37	chr2	219222441	219222441	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggacaaaatgctctgCggaaattccctcctgggtag	9	12	10	10	1	2	0	0	0	2	0	4	2	4	2	2	3	2	2	2	3	4	4	rs150544491		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:219222441C>T	ENST00000289388.3	+	3	332	c.303C>T	c.(301-303)tgC>tgT	p.C101C	AC021016.8_ENST00000411433.1_RNA|C2orf62_ENST00000481940.1_3'UTR	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	101										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAATGCTCTGCGGAAATTCCC	0.527													22	69					0	0	0	0	T	219222441	C	T	219222441	2	4	8	1	0	0	0	0	0	0	0	1	2201	776	27	1		1	C2orf62	2	219222441	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	16596552	219222441	23976932	98	1966											
CHPF	79586	broad.mit.edu	37	chr2	220405145	220405145	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggcggttcagctcctctaGagctgtccccagaacatcgg	7	8	12	14	3	2	2	1	0	1	2	5	2	4	2	3	3	3	3	3	3	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:220405145G>C	ENST00000243776.6	-	4	1536	c.1288C>G	c.(1288-1290)Cta>Gta	p.L430V	CHPF_ENST00000535926.1_Missense_Mutation_p.L268V	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	430						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCTCCTCTAGAGCTGTCCCC	0.647													20	18					0	0	0	0	C	220405145	G	C	220405145	3	2	8	1	0	0	0	0	1	0	0	0	3397	933	33	2	1043	2	CHPF	2	220405145	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1182704	220405145	22794228	99	1967											
PTMA	5757	broad.mit.edu	37	chr2	232576621	232576621	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgaggaaaatggggagcagGaggctgacaatgaggtagac	15	5	17	4	0	0	4	0	3	0	1	0	7	0	7	0	6	1	3	0	6	4	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:232576621G>T	ENST00000409115.3	+	3	337	c.139G>T	c.(139-141)Gag>Tag	p.E47*	PTMA_ENST00000409321.1_Nonsense_Mutation_p.E68*|PTMA_ENST00000341369.7_Nonsense_Mutation_p.E48*|PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000410064.1_Nonsense_Mutation_p.E73*|PTMA_ENST00000409683.1_Nonsense_Mutation_p.E47*	NM_002823.4	NP_002814.3	P06454	PTMA_HUMAN	prothymosin, alpha	48	Asp/Glu-rich (acidic).				transcription, DNA-dependent	nucleus				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGGGGAGCAGGAGGCTGACAA	0.547													6	9					3.59834e-05	3.691e-05	1	0	T	232576621	G	T	232576621	4	4	8	1	0	0	0	0	0	1	0	0	12846	1175	41	2	152	2	PTMA	2	232576621	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	12171476	232576621	10622752	100	1968											
ITPR1	3708	broad.mit.edu	37	chr3	4699900	4699900	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgcctgaaggcaatgaCatctcctccattttcgagct	8	13	8	12	1	2	2	0	2	2	0	5	3	3	2	3	1	2	2	3	1	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:4699900C>G	ENST00000354582.6	+	13	1439	c.1089C>G	c.(1087-1089)gaC>gaG	p.D363E	ITPR1_ENST00000456211.2_Missense_Mutation_p.D348E|ITPR1_ENST00000443694.2_Missense_Mutation_p.D348E|ITPR1_ENST00000357086.4_Missense_Mutation_p.D363E|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.D363E|ITPR1_ENST00000302640.8_Missense_Mutation_p.D348E			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	363	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AAGGCAATGACATCTCCTCCA	0.507													18	64					0	0	0	0	G	4699900	C	G	4699900	3	3	8	1	0	0	0	0	1	0	0	0	7973	477	17	4	1131	4	ITPR1	3	4699900	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08		4699900	193322530	101	1969											
ITPR1	3708	broad.mit.edu	37	chr3	4725457	4725457	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gactatggatggtgcatctgGagaaaatgaacataagaaaa	18	8	11	4	0	1	3	0	1	1	2	1	6	1	4	0	3	2	1	0	3	7	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:4725457G>C	ENST00000302640.8	+	27	3778	c.3428G>C	c.(3427-3429)gGa>gCa	p.G1143A	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1149A|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1149A|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1134A|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1143A|ITPR1_ENST00000354582.6_Missense_Mutation_p.G1158A	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1158					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGTGCATCTGGAGAAAATGAA	0.473													19	44					0	0	0	0	C	4725457	G	C	4725457	3	2	8	1	0	0	0	0	1	0	0	0	7973	1174	41	2	3575	2	ITPR1	3	4725457	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	25557	4725457	193296973	102	1970											
PRRT3	285368	broad.mit.edu	37	chr3	9990498	9990498	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacagctgggccagggtctGagggaccagggatgagagac	10	6	17	8	0	1	3	0	2	1	1	1	6	1	5	2	4	2	1	2	4	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:9990498G>C	ENST00000412055.1	-	3	1244	c.1115C>G	c.(1114-1116)tCa>tGa	p.S372*	PRRT3_ENST00000411976.2_Nonsense_Mutation_p.S372*|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	372	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GCCAGGGTCTGAGGGACCAGG	0.642													63	168					0	0	0	0	C	9990498	G	C	9990498	4	2	8	1	0	0	0	0	0	1	0	0	12690	1294	45	2	1838	2	PRRT3	3	9990498	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	5265041	9990498	188031932	103	1971											
VHL	7428	broad.mit.edu	37	chr3	10188211	10188211	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgataggtcacctttggctCttcagagatgcagggacaca	10	9	11	11	1	3	1	2	0	1	1	3	4	3	2	2	3	1	2	2	3	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:10188211C>T	ENST00000256474.2	+	2	1194	c.354C>T	c.(352-354)ctC>ctT	p.L118L	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	118	Involved in binding to CCT complex.		L -> P (in VHLD; type I; dbSNP:rs5030830).|L -> R (in VHLD).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.W117fs*40(1)|p.L118_G123>P(1)|p.W117fs*1(1)|p.?(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACCTTTGGCTCTTCAGAGATG	0.507		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				58	146					0	0	0	0	T	10188211	C	T	10188211	2	4	8	1	0	0	0	0	0	0	0	1	17258	900	32	2		2	VHL	3	10188211	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	197713	10188211	187834219	104	1972											
ATP2B2	491	broad.mit.edu	37	chr3	10392202	10392202	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagccgtgttgatattgtcGccagtgaccatgcggaccgt	7	10	13	11	5	0	2	0	2	0	0	1	4	0	3	4	1	2	1	4	1	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:10392202G>A	ENST00000397077.1	-	14	2636	c.2061C>T	c.(2059-2061)ggC>ggT	p.G687G	ATP2B2_ENST00000360273.2_Silent_p.G732G|ATP2B2_ENST00000352432.4_Silent_p.G732G|ATP2B2_ENST00000343816.4_Silent_p.G718G|ATP2B2_ENST00000383800.4_Silent_p.G687G			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	732					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGATATTGTCGCCAGTGACCA	0.632													26	72					0	0	0	0	A	10392202	G	A	10392202	2	1	8	1	0	0	0	0	0	0	0	1	1144	1074	38	1		1	ATP2B2	3	10392202	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	203991	10392202	187630228	105	1973											
IQSEC1	9922	broad.mit.edu	37	chr3	12983123	12983123	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctctcggagagtgagcgtGagcgcttgatggcctcctcc	6	9	14	12	3	1	4	0	3	1	1	4	5	3	4	3	2	3	2	3	2	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:12983123G>C	ENST00000273221.4	-	2	524	c.308C>G	c.(307-309)tCa>tGa	p.S103*	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	103					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGTGAGCGTGAGCGCTTGAT	0.662													5	22					0	0	0	0	C	12983123	G	C	12983123	4	2	8	1	0	0	0	0	0	1	0	0	7870	1294	45	2	3180	2	IQSEC1	3	12983123	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2590921	12983123	185039307	106	1974											
C3orf20	84077	broad.mit.edu	37	chr3	14769987	14769987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaccaaaaaggaggaggaaGaatttgttcggttcaagatg	15	8	12	6	1	1	2	1	0	0	2	2	5	1	5	2	4	0	2	2	4	5	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:14769987G>A	ENST00000253697.3	+	12	2184	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	C3orf20_ENST00000435614.1_Missense_Mutation_p.E456K|C3orf20_ENST00000412910.1_Missense_Mutation_p.E456K	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	578	Poly-Glu.					cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGAGGAGGAAGAATTTGTTCG	0.473													23	94					0	0	0	0	A	14769987	G	A	14769987	3	1	8	1	0	0	0	0	1	0	0	0	2233	943	33	2	1770	2	C3orf20	3	14769987	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1786864	14769987	183252443	107	1975											
COLQ	8292	broad.mit.edu	37	chr3	15512102	15512102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtcctgctatcccaggttCaccttttggacccatttcac	6	14	7	14	0	2	0	2	0	0	0	4	1	4	1	4	2	1	2	4	2	1	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:15512102C>T	ENST00000383785.2	-	11	783	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	COLQ_ENST00000603808.1_Missense_Mutation_p.E220K|COLQ_ENST00000435459.2_Missense_Mutation_p.E210K|COLQ_ENST00000383781.4_Missense_Mutation_p.E210K|COLQ_ENST00000383788.5_Missense_Mutation_p.E220K|COLQ_ENST00000383786.5_Missense_Mutation_p.E186K|COLQ_ENST00000383787.2_Missense_Mutation_p.E211K			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	220	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						ATCCCAGGTTCACCTTTTGGA	0.537													63	194					0	0	0	0	T	15512102	C	T	15512102	3	4	8	1	0	0	0	0	1	0	0	0	3743	835	29	2	737	2	COLQ	3	15512102	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	742115	15512102	182510328	108	1976											
BTD	686	broad.mit.edu	37	chr3	15686312	15686312	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtggcatacacacccctCtggagtccttttggtaccat	9	11	9	12	0	1	0	0	0	1	0	2	2	2	1	4	3	2	2	4	3	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:15686312C>T	ENST00000383778.4	+	4	1247	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	BTD_ENST00000303498.5_Silent_p.L317L|BTD_ENST00000437172.1_Silent_p.L319L|BTD_ENST00000449107.1_Silent_p.L319L			P43251	BTD_HUMAN	biotinidase	317	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						ACACACCCCTCTGGAGTCCTT	0.488													27	89					0	0	0	0	T	15686312	C	T	15686312	2	4	8	1	0	0	0	0	0	0	0	1	1559	912	32	2		2	BTD	3	15686312	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	174210	15686312	182336118	109	1977											
RPL15	6138	broad.mit.edu	37	chr3	23959350	23959350	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatttcacaggtaagccaaGatgggtgcatacaagtacat	14	10	10	7	0	1	2	1	1	0	1	1	2	1	2	1	2	4	3	1	2	5	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:23959350G>A	ENST00000307839.5	+	0	639				RPL15_ENST00000413699.1_De_novo_Start_InFrame|RPL15_ENST00000435882.1_De_novo_Start_InFrame|RPL15_ENST00000456530.2_De_novo_Start_InFrame|RPL15_ENST00000415719.1_De_novo_Start_InFrame|RPL15_ENST00000354811.5_De_novo_Start_InFrame|NKIRAS1_ENST00000421515.2_Intron	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						GGTAAGCCAAGATGGGTGCAT	0.453													24	72					0	0	0	0	A	23959350	G	A	23959350	1	1	8	1	0	0	0	0	0	0	0	0	13647	957	33	2		2	RPL15	3	23959350	Translation_Start_Site	SNP	G	TCGA-BA-5152-01A-02D-1870-08	8273038	23959350	174063080	110	1978											
CRTAP	10491	broad.mit.edu	37	chr3	33155701	33155701	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggacgagctgatgccgctCgagtcggcctaccggcacgc	6	5	15	15	7	0	1	0	1	0	0	2	4	0	2	3	3	3	3	3	3	1	1	rs114946269	by1000genomes	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:33155701C>T	ENST00000320954.6	+	1	231	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CRTAP_ENST00000449224.1_Silent_p.L44L	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	44						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TGATGCCGCTCGAGTCGGCCT	0.697													6	22					0	0	0	0	T	33155701	C	T	33155701	2	4	8	1	0	0	0	0	0	0	0	1	3928	871	31	1		1	CRTAP	3	33155701	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	9196351	33155701	164866729	111	1979											
ARPP21	10777	broad.mit.edu	37	chr3	35778790	35778790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaccacagcagcagccctCcccgcagccccaacagcagg	10	1	9	21	1	0	0	0	0	0	0	1	0	1	0	7	1	6	4	7	1	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:35778790C>A	ENST00000187397.4	+	16	2036	c.1580C>A	c.(1579-1581)tCc>tAc	p.S527Y	ARPP21_ENST00000444190.1_Missense_Mutation_p.S473Y|ARPP21_ENST00000417925.1_Missense_Mutation_p.S493Y|ARPP21_ENST00000458225.1_Missense_Mutation_p.S493Y|ARPP21_ENST00000337271.5_Missense_Mutation_p.S473Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	527	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGCAGCCCTCCCCGCAGCCC	0.642													21	41					5.45024e-15	5.82388e-15	1	0	A	35778790	C	A	35778790	3	1	8	1	0	0	0	0	1	0	0	0	982	855	30	2	1647	2	ARPP21	3	35778790	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2623089	35778790	162243640	112	1980											
OXSR1	9943	broad.mit.edu	37	chr3	38266073	38266073	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttgcaggttttaatgctGacactgcagaacgatcctcc	9	13	8	11	1	1	2	0	1	1	1	3	3	3	2	2	1	4	4	2	1	2	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:38266073G>A	ENST00000311806.3	+	8	1086	c.714G>A	c.(712-714)ctG>ctA	p.L238L	OXSR1_ENST00000446845.1_Silent_p.L238L	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	238	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTTTAATGCTGACACTGCAGA	0.343													6	80					0	0	0	0	A	38266073	G	A	38266073	2	1	8	1	0	0	0	0	0	0	0	1	11407	1277	45	2		2	OXSR1	3	38266073	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2487283	38266073	159756357	113	1981											
XIRP1	165904	broad.mit.edu	37	chr3	39226071	39226071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctgatcttgacttgactCtgggcctcagtgtggcattc	5	16	10	10	0	4	3	1	3	3	0	5	3	4	3	1	2	0	1	1	2	0	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:39226071C>G	ENST00000340369.3	-	2	5094	c.4866G>C	c.(4864-4866)caG>caC	p.Q1622H	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.Q305H	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1622							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGACTTGACTCTGGGCCTCAG	0.562													54	161					0	0	0	0	G	39226071	C	G	39226071	3	3	8	1	0	0	0	0	1	0	0	0	17525	912	32	2	669	2	XIRP1	3	39226071	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	959998	39226071	158796359	114	1982											
COL7A1	1294	broad.mit.edu	37	chr3	48625737	48625737	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaggttgccagtgcagaagGaagccctgcgctctgggcac	8	7	14	12	1	2	1	1	0	1	1	2	2	2	2	2	3	4	4	2	3	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:48625737G>A	ENST00000328333.8	-	20	2795	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	COL7A1_ENST00000454817.1_Silent_p.F896F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	896	Fibronectin type-III 8.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTGCAGAAGGAAGCCCTGCG	0.682													17	42					0	0	0	0	A	48625737	G	A	48625737	2	1	8	1	0	0	0	0	0	0	0	1	3734	1165	41	2		2	COL7A1	3	48625737	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	9399666	48625737	149396693	115	1983											
COL7A1	1294	broad.mit.edu	37	chr3	48626388	48626388	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaacgtcgctggaagcattGaggatctgcagcctcgacac	11	7	12	11	3	1	2	0	1	1	1	3	5	1	4	1	2	4	3	1	2	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:48626388G>A	ENST00000328333.8	-	18	2462	c.2355C>T	c.(2353-2355)ctC>ctT	p.L785L	COL7A1_ENST00000454817.1_Silent_p.L785L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	785	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGAAGCATTGAGGATCTGCA	0.607													30	92					0	0	0	0	A	48626388	G	A	48626388	2	1	8	1	0	0	0	0	0	0	0	1	3734	1277	45	2		2	COL7A1	3	48626388	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	651	48626388	149396042	116	1984											
BSN	8927	broad.mit.edu	37	chr3	49692476	49692476	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgcccagagcattggcctCaagccaggcccagtgccaga	10	4	11	16	1	1	2	1	0	0	2	1	2	1	2	6	2	3	1	6	2	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:49692476C>G	ENST00000296452.4	+	5	5601	c.5487C>G	c.(5485-5487)ctC>ctG	p.L1829L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1829					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCATTGGCCTCAAGCCAGGCC	0.612													6	96					0	0	0	0	G	49692476	C	G	49692476	2	3	8	1	0	0	0	0	0	0	0	1	1538	813	29	2		2	BSN	3	49692476	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1066088	49692476	148329954	117	1985											
MST1R	4486	broad.mit.edu	37	chr3	49935953	49935953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccagggaagccatacctCagtaagcttaggtgggcagt	10	8	13	10	0	1	0	1	0	0	0	1	1	1	1	3	3	4	3	3	3	4	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:49935953C>T	ENST00000296474.3	-	4	1744	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	MST1R_ENST00000344206.4_Missense_Mutation_p.E573K	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	573	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGCCATACCTCAGTAAGCTTA	0.582													17	40					0	0	0	0	T	49935953	C	T	49935953	3	4	8	1	0	0	0	0	1	0	0	0	9961	835	29	2	2553	2	MST1R	3	49935953	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	243477	49935953	148086477	118	1986											
MST1R	4486	broad.mit.edu	37	chr3	49936568	49936568	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacgttgtcaaggcgtgtCacatacaatgcagtgacctg	10	10	12	9	2	2	2	2	2	0	0	2	2	2	2	1	1	2	2	1	1	3	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:49936568C>T	ENST00000296474.3	-	2	1386	c.1359G>A	c.(1357-1359)gtG>gtA	p.V453V	MST1R_ENST00000344206.4_Silent_p.V453V	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	453	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAAGGCGTGTCACATACAATG	0.577													43	97					0	0	0	0	T	49936568	C	T	49936568	2	4	8	1	0	0	0	0	0	0	0	1	9961	813	29	2		2	MST1R	3	49936568	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	615	49936568	148085862	119	1987											
NT5DC2	64943	broad.mit.edu	37	chr3	52559068	52559068	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgatgcggatctcacgctCcagctcggggatgatggcgc	7	8	15	11	4	1	2	1	2	1	0	4	5	2	4	1	4	2	2	1	4	0	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:52559068C>G	ENST00000307076.4	-	12	1547	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q	NT5DC2_ENST00000307092.4_Missense_Mutation_p.E324Q|NT5DC2_ENST00000422318.2_Missense_Mutation_p.E420Q|NT5DC2_ENST00000459839.1_Missense_Mutation_p.E395Q	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	383							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		ATCTCACGCTCCAGCTCGGGG	0.682													3	14					0	0	0	0	G	52559068	C	G	52559068	3	3	8	1	0	0	0	0	1	0	0	0	10762	864	30	2	427	2	NT5DC2	3	52559068	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2622500	52559068	145463362	120	1988											
ERC2	26059	broad.mit.edu	37	chr3	55717821	55717821	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atataaaagatggtttctcaCccctcaaaacaaaactggaa	18	9	5	9	0	2	1	2	0	1	1	3	2	2	2	2	2	2	1	2	2	8	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:55717821C>G	ENST00000288221.6	-	17	3169		c.e17+1			NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2							cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGGTTTCTCACCCCTCAAAAC	0.478													4	63					0	0	0	0	G	55717821	C	G	55717821	5	3	8	1	0	0	0	0	0	0	1	0	5249	521	18	4		4	ERC2	3	55717821	Splice_Site	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3158753	55717821	142304609	121	1989											
ATXN7	6314	broad.mit.edu	37	chr3	63973786	63973786	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggtagaagaaaacgatttGatgtgttattagccgagcac	14	10	12	5	2	0	3	0	1	0	2	0	5	0	3	1	1	3	3	1	1	6	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:63973786G>C	ENST00000398590.3	+	9	1700	c.1147G>C	c.(1147-1149)Gat>Cat	p.D383H	ATXN7_ENST00000538065.1_Missense_Mutation_p.D383H|ATXN7_ENST00000487717.1_Missense_Mutation_p.D383H|ATXN7_ENST00000484332.1_Missense_Mutation_p.D238H|ATXN7_ENST00000295900.6_Missense_Mutation_p.D383H	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	383	SCA7.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AAAACGATTTGATGTGTTATT	0.458													74	201					0	0	0	0	C	63973786	G	C	63973786	3	2	8	1	0	0	0	0	1	0	0	0	1219	1290	45	2	1241	2	ATXN7	3	63973786	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	8255965	63973786	134048644	122	1990											
MITF	4286	broad.mit.edu	37	chr3	70014321	70014321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgatccactcctttcCtcagtgtcccccggagcttc	5	12	7	17	1	2	1	2	1	0	0	7	2	6	2	5	1	1	1	5	1	0	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:70014321C>T	ENST00000352241.4	+	10	1648	c.1485C>T	c.(1483-1485)tcC>tcT	p.S495S	MITF_ENST00000314589.5_Silent_p.S479S|MITF_ENST00000394355.2_Silent_p.S470S|MITF_ENST00000394351.3_Silent_p.S394S|MITF_ENST00000328528.6_Silent_p.S494S|MITF_ENST00000472437.1_Silent_p.S443S|MITF_ENST00000448226.2_Silent_p.S501S|MITF_ENST00000314557.6_Silent_p.S388S|MITF_ENST00000531774.1_Silent_p.S332S	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	501					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CACTCCTTTCCTCAGTGTCCC	0.532			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						20	74					0	0	0	0	T	70014321	C	T	70014321	2	4	8	1	0	0	0	0	0	0	0	1	9665	668	24	4		4	MITF	3	70014321	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	6040535	70014321	128008109	123	1991											
ROBO2	6092	broad.mit.edu	37	chr3	77666728	77666728	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttacaccaaggtctggaaGatgaactggaagaagatgat	16	8	11	6	0	1	5	0	2	1	3	1	7	1	7	1	3	2	0	1	3	6	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:77666728G>C	ENST00000461745.1	+	22	4258	c.3358G>C	c.(3358-3360)Gat>Cat	p.D1120H	ROBO2_ENST00000487694.3_Missense_Mutation_p.D1136H|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.D1120H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1120					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGGTCTGGAAGATGAACTGGA	0.458													31	84					0	0	0	0	C	77666728	G	C	77666728	3	2	8	1	0	0	0	0	1	0	0	0	13599	942	33	2	3446	2	ROBO2	3	77666728	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	7652407	77666728	120355702	124	1992											
GABRR3	200959	broad.mit.edu	37	chr3	97711819	97711819	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtacacatccacagccttGaggtaggacacctggggcat	11	7	12	11	0	0	1	0	1	0	0	1	2	1	2	3	5	2	3	3	5	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:97711819G>C	ENST00000472788.1	-	0	982					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						CCACAGCCTTGAGGTAGGACA	0.532													16	132					0	0	0	0	C	97711819	G	C	97711819	1	2	8	0	1	0	0	0	0	0	0	0	6226	1277	45	2		2	GABRR3	3	97711819	RNA	SNP	G	TCGA-BA-5152-01A-02D-1870-08	20045091	97711819	100310611	125	1993											
ST3GAL6	10402	broad.mit.edu	37	chr3	98512551	98512551	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgtgactgcagagcagctCtttttgaaggacattataga	13	12	10	6	0	1	4	0	2	1	2	1	5	1	5	0	1	3	3	0	1	4	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:98512551C>G	ENST00000265261.6	+	10	1010	c.588C>G	c.(586-588)ctC>ctG	p.L196L	ST3GAL6_ENST00000483910.1_Silent_p.L314L|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Silent_p.L314L	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	314					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CAGAGCAGCTCTTTTTGAAGG	0.353													36	107					0	0	0	0	G	98512551	C	G	98512551	2	3	8	1	0	0	0	0	0	0	0	1	15309	900	32	2		2	ST3GAL6	3	98512551	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	800732	98512551	99509879	126	1994											
ZNF80	7634	broad.mit.edu	37	chr3	113955429	113955429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaaaggtttttccacattCtttgcacccaaagagttttt	11	16	6	8	0	1	1	0	0	1	1	2	1	2	1	2	1	1	4	2	1	3	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:113955429C>G	ENST00000482457.2	-	1	996	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	165						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TTTCCACATTCTTTGCACCCA	0.488													17	156					0	0	0	0	G	113955429	C	G	113955429	3	3	8	1	0	0	0	0	1	0	0	0	18261	922	32	2	332	2	ZNF80	3	113955429	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	15442878	113955429	84067001	127	1995											
PODXL2	50512	broad.mit.edu	37	chr3	127390296	127390296	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gattggcatccagaactattCcacaaccagcagctgccagg	12	7	9	13	0	0	1	0	0	0	1	2	2	2	1	4	2	5	3	4	2	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:127390296C>G	ENST00000342480.6	+	7	1484	c.1445C>G	c.(1444-1446)tCc>tGc	p.S482C		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	482					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CAGAACTATTCCACAACCAGC	0.632													23	88					0	0	0	0	G	127390296	C	G	127390296	3	3	8	1	0	0	0	0	1	0	0	0	12253	855	30	2	1471	2	PODXL2	3	127390296	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	13434867	127390296	70632134	128	1996											
COL6A6	131873	broad.mit.edu	37	chr3	130300643	130300643	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctacagtgaaaacatactGaatagcttgaaggatataac	18	10	7	6	0	1	3	0	3	1	0	1	4	1	4	0	1	5	1	0	1	9	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:130300643G>C	ENST00000358511.6	+	8	3817	c.3786G>C	c.(3784-3786)ctG>ctC	p.L1262L	COL6A6_ENST00000453409.2_Silent_p.L1262L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1262	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAAACATACTGAATAGCTTGA	0.413													61	164					0	0	0	0	C	130300643	G	C	130300643	2	2	8	1	0	0	0	0	0	0	0	1	3733	1277	45	2		2	COL6A6	3	130300643	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2910347	130300643	67721787	129	1997											
TF	7018	broad.mit.edu	37	chr3	133496034	133496034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catatgaaaaatacttaggaGaagaatatgtcaaggctgtt	17	11	9	4	0	1	3	1	1	0	2	1	4	1	3	0	2	1	2	0	2	9	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:133496034G>A	ENST00000402696.3	+	16	2499	c.2014G>A	c.(2014-2016)Gaa>Aaa	p.E672K	TF_ENST00000264998.3_Missense_Mutation_p.E545K	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	672	Transferrin-like 2.			E -> Q (in Ref. 12; AA sequence).	cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	ATACTTAGGAGAAGAATATGT	0.443													13	40					0	0	0	0	A	133496034	G	A	133496034	3	1	8	1	0	0	0	0	1	0	0	0	15879	943	33	2	2076	2	TF	3	133496034	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3195391	133496034	64526396	130	1998											
NCK1	4690	broad.mit.edu	37	chr3	136664663	136664663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatggacaagttggatggttCccttcaaactatgtaactga	13	12	9	7	0	1	1	1	1	0	0	2	3	2	3	1	3	2	3	1	3	5	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:136664663C>A	ENST00000469404.1	+	2	364	c.273C>A	c.(271-273)ttC>ttA	p.F91L	NCK1_ENST00000481752.1_Missense_Mutation_p.F155L|NCK1_ENST00000288986.2_Missense_Mutation_p.F155L	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	155					axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TTGGATGGTTCCCTTCAAACT	0.443													19	169					1.15919e-05	1.1976e-05	1	0	A	136664663	C	A	136664663	3	1	8	1	0	0	0	0	1	0	0	0	10289	854	30	2	471	2	NCK1	3	136664663	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3168629	136664663	61357767	131	1999											
C3orf58	205428	broad.mit.edu	37	chr3	143691432	143691432	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcgcctgctggacttcctCaacgtgaagaacgtgtactt	8	12	10	11	3	1	2	1	1	0	1	2	3	2	3	2	1	5	2	2	1	4	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:143691432C>G	ENST00000315691.3	+	1	793	c.258C>G	c.(256-258)ctC>ctG	p.L86L		NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	86						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGACTTCCTCAACGTGAAGA	0.697													7	48					0	0	0	0	G	143691432	C	G	143691432	2	3	8	1	0	0	0	0	0	0	0	1	2256	813	29	2		2	C3orf58	3	143691432	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7026769	143691432	54330998	132	2000											
PLOD2	5352	broad.mit.edu	37	chr3	145828128	145828128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggatacttgtctgctagtCttttatctggccacaaaatt	10	15	7	9	0	3	0	0	0	3	0	3	1	3	1	1	2	2	1	1	2	5	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:145828128C>G	ENST00000282903.5	-	4	623	c.446G>C	c.(445-447)aGa>aCa	p.R149T	PLOD2_ENST00000360060.3_Missense_Mutation_p.R149T|PLOD2_ENST00000494950.1_Missense_Mutation_p.R94T	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	149					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	GTCTGCTAGTCTTTTATCTGG	0.388													25	76					0	0	0	0	G	145828128	C	G	145828128	3	3	8	1	0	0	0	0	1	0	0	0	12174	913	32	2	1898	2	PLOD2	3	145828128	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2136696	145828128	52194302	133	2001											
IGSF10	285313	broad.mit.edu	37	chr3	151155923	151155923	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttttgttactctgccttatCcggggagcagctgttataac	7	15	10	9	1	1	0	0	0	1	0	2	1	2	1	2	2	5	5	2	2	4	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:151155923C>T	ENST00000282466.3	-	6	6425	c.6426G>A	c.(6424-6426)cgG>cgA	p.R2142R	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2142	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTGCCTTATCCGGGGAGCAG	0.458													25	62					0	0	0	0	T	151155923	C	T	151155923	2	4	8	1	0	0	0	0	0	0	0	1	7650	842	30	2		2	IGSF10	3	151155923	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	5327795	151155923	46866507	134	2002											
USP13	8975	broad.mit.edu	37	chr3	179481862	179481862	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcctctgtttttggtgcttCtggactggataaccaacctc	7	14	9	11	0	2	0	0	0	2	0	3	2	2	2	3	3	4	2	3	3	2	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:179481862C>G	ENST00000263966.3	+	18	2636	c.2165C>G	c.(2164-2166)tCt>tGt	p.S722C	USP13_ENST00000496897.1_Missense_Mutation_p.S657C	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	722					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTGGTGCTTCTGGACTGGAT	0.502													31	98					0	0	0	0	G	179481862	C	G	179481862	3	3	8	1	0	0	0	0	1	0	0	0	17140	913	32	2	2235	2	USP13	3	179481862	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	28325939	179481862	18540568	135	2003											
TP63	8626	broad.mit.edu	37	chr3	189582183	189582183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagcggtgccccaaccatGagctgagccgtgaattcaac	11	7	11	12	2	1	4	1	4	0	0	1	4	1	4	4	1	6	1	4	1	4	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:189582183G>A	ENST00000264731.3	+	5	831	c.742G>A	c.(742-744)Gag>Aag	p.E248K	TP63_ENST00000437221.1_Missense_Mutation_p.E154K|TP63_ENST00000449992.1_Missense_Mutation_p.E69K|TP63_ENST00000354600.5_Missense_Mutation_p.E154K|TP63_ENST00000440651.2_Missense_Mutation_p.E248K|TP63_ENST00000392460.3_Missense_Mutation_p.E248K|TP63_ENST00000320472.5_Missense_Mutation_p.E248K|TP63_ENST00000456148.1_Missense_Mutation_p.E154K|TP63_ENST00000392463.2_Missense_Mutation_p.E154K|TP63_ENST00000392461.3_Missense_Mutation_p.E154K|TP63_ENST00000382063.4_Missense_Mutation_p.E163K|TP63_ENST00000418709.2_Missense_Mutation_p.E248K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	248					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCCAACCATGAGCTGAGCCG	0.517										HNSCC(45;0.13)			25	64					0	0	0	0	A	189582183	G	A	189582183	3	1	8	1	0	0	0	0	1	0	0	0	16487	1291	45	2	806	2	TP63	3	189582183	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	10100321	189582183	8440247	136	2004											
TP63	8626	broad.mit.edu	37	chr3	189586432	189586432	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttgcccaggaagagacagGaaggcggatgaagatagcat	14	5	15	7	1	0	3	0	1	0	2	0	7	0	6	1	4	2	2	1	4	4	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:189586432G>A	ENST00000264731.3	+	8	1145	c.1056G>A	c.(1054-1056)agG>agA	p.R352R	TP63_ENST00000437221.1_Silent_p.R258R|TP63_ENST00000449992.1_Silent_p.R173R|TP63_ENST00000354600.5_Silent_p.R258R|TP63_ENST00000440651.2_Silent_p.R352R|TP63_ENST00000392460.3_Silent_p.R352R|TP63_ENST00000320472.5_Silent_p.R352R|TP63_ENST00000456148.1_Silent_p.R258R|TP63_ENST00000392463.2_Silent_p.R258R|TP63_ENST00000392461.3_Silent_p.R258R|TP63_ENST00000382063.4_Silent_p.R267R|TP63_ENST00000418709.2_Silent_p.R352R	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	352	Interaction with HIPK2.		R -> G (in EDRH and OFC8).		anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GAAGAGACAGGAAGGCGGATG	0.502										HNSCC(45;0.13)			17	66					0	0	0	0	A	189586432	G	A	189586432	2	1	8	1	0	0	0	0	0	0	0	1	16487	1165	41	2		2	TP63	3	189586432	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	4249	189586432	8435998	137	2005											
PIGZ	80235	broad.mit.edu	37	chr3	196674441	196674441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggggcatggaccacctgctCcaggtactccaggccaggca	9	5	13	14	0	0	0	0	0	0	0	2	1	2	1	5	6	2	4	5	6	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:196674441C>G	ENST00000412723.1	-	3	1473	c.1327G>C	c.(1327-1329)Gag>Cag	p.E443Q		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	443					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ACCACCTGCTCCAGGTACTCC	0.647													4	46					0	0	0	0	G	196674441	C	G	196674441	3	3	8	1	0	0	0	0	1	0	0	0	11977	864	30	2	416	2	PIGZ	3	196674441	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7088009	196674441	1347989	138	2006											
BDH1	622	broad.mit.edu	37	chr3	197259341	197259341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgcagatgcttggccaatGagaacccaaatccagagtca	15	7	9	10	0	1	3	1	1	0	3	2	4	2	3	3	1	3	2	3	1	4	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:197259341G>A	ENST00000392379.1	-	5	610	c.209C>T	c.(208-210)tCa>tTa	p.S70L	BDH1_ENST00000358186.2_Missense_Mutation_p.S70L|BDH1_ENST00000441275.1_5'UTR|BDH1_ENST00000392378.2_Missense_Mutation_p.S70L	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	70				S -> A (in Ref. 3; AAH11964).	cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CTTGGCCAATGAGAACCCAAA	0.473													10	42					0	0	0	0	A	197259341	G	A	197259341	3	1	8	1	0	0	0	0	1	0	0	0	1394	1294	45	2	838	2	BDH1	3	197259341	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	584900	197259341	763089	139	2007											
MXD4	10608	broad.mit.edu	37	chr4	2259719	2259719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcacttacctgtgcttttCtagctcgttgtgtgaagacc	6	15	10	10	1	2	2	1	1	1	1	3	2	2	2	2	1	3	3	2	1	3	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:2259719C>G	ENST00000337190.2	-	3	497	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q	MXD4_ENST00000515378.1_5'UTR	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	62					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CTGTGCTTTTCTAGCTCGTTG	0.582													13	47					0	0	0	0	G	2259719	C	G	2259719	3	3	8	1	0	0	0	0	1	0	0	0	10071	922	32	2	461	2	MXD4	4	2259719	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08		2259719	188894557	140	2008											
LDB2	9079	broad.mit.edu	37	chr4	16590367	16590367	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctcgggactaactctCggtattgtctaatggtaaag	9	14	10	8	2	3	0	0	0	3	0	5	1	3	1	0	3	2	3	0	3	5	6	rs142034467		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:16590367C>A	ENST00000502640.1	-	4	645	c.497G>T	c.(496-498)cGa>cTa	p.R166L	LDB2_ENST00000503178.2_Missense_Mutation_p.R42L|LDB2_ENST00000304523.5_Missense_Mutation_p.R166L|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.R166L|LDB2_ENST00000441778.2_Missense_Mutation_p.R166L			O43679	LDB2_HUMAN	LIM domain binding 2	166							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GACTAACTCTCGGTATTGTCT	0.393													26	71					7.26314e-15	7.74951e-15	1	0	A	16590367	C	A	16590367	3	1	8	1	0	0	0	0	1	0	0	0	8749	884	31	3	753	3	LDB2	4	16590367	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	14330648	16590367	174563909	141	2009											
KCNIP4	80333	broad.mit.edu	37	chr4	20884280	20884280	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgagcagggcaagagcttCatgagccgctctttaatgct	9	10	12	10	1	2	3	1	2	1	1	2	3	2	3	1	1	4	6	1	1	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:20884280C>G	ENST00000382152.2	-	2	281	c.114G>C	c.(112-114)atG>atC	p.M38I	KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000382150.4_Intron|KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000359001.5_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	38	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GCAAGAGCTTCATGAGCCGCT	0.433													17	40					0	0	0	0	G	20884280	C	G	20884280	3	3	8	1	0	0	0	0	1	0	0	0	8095	826	29	2	671	2	KCNIP4	4	20884280	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	4293913	20884280	170269996	142	2010											
APBB2	323	broad.mit.edu	37	chr4	41016114	41016114	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttgctctgcagccttacgGagctggttctccccattttt	4	15	8	14	1	2	0	0	0	2	0	3	1	2	1	4	2	5	4	4	2	1	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:41016114G>A	ENST00000295974.8	-	6	950	c.321C>T	c.(319-321)ctC>ctT	p.L107L	APBB2_ENST00000513140.1_Silent_p.L107L|APBB2_ENST00000506352.1_Silent_p.L107L|APBB2_ENST00000508593.1_Silent_p.L107L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	107					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|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						CAGCCTTACGGAGCTGGTTCT	0.562													23	70					0	0	0	0	A	41016114	G	A	41016114	2	1	8	1	0	0	0	0	0	0	0	1	762	1161	41	2		2	APBB2	4	41016114	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	20131834	41016114	150138162	143	2011											
KCTD8	386617	broad.mit.edu	37	chr4	44176989	44176989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacttgctgatgagggtctGaaagagttcactgtttctgc	8	13	13	7	0	3	4	1	3	2	1	3	5	3	5	0	2	2	3	0	2	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:44176989G>C	ENST00000360029.3	-	2	1523	c.1240C>G	c.(1240-1242)Cag>Gag	p.Q414E		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	414						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATGAGGGTCTGAAAGAGTTCA	0.428										HNSCC(17;0.042)			77	247					0	0	0	0	C	44176989	G	C	44176989	3	2	8	1	0	0	0	0	1	0	0	0	8168	1299	45	2	185	2	KCTD8	4	44176989	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3160875	44176989	146977287	144	2012											
LNX1	84708	broad.mit.edu	37	chr4	54364928	54364928	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcccaccagcctaatagaGaggctttcactgggatctac	10	9	8	14	0	2	1	1	0	1	1	3	3	3	2	4	2	2	1	4	2	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:54364928G>C	ENST00000306888.2	-	4	821	c.570C>G	c.(568-570)ctC>ctG	p.L190L	LNX1_ENST00000263925.7_Silent_p.L286L|FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000502373.1_RNA	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	286						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCCTAATAGAGAGGCTTTCAC	0.483													21	60					0	0	0	0	C	54364928	G	C	54364928	2	2	8	1	0	0	0	0	0	0	0	1	8920	929	33	2		2	LNX1	4	54364928	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	10187939	54364928	136789348	145	2013											
EPHA5	2044	broad.mit.edu	37	chr4	66217204	66217204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactgttgattaagatgtttCtggcagcaagatctctatgc	10	15	9	7	0	2	3	0	1	2	2	3	3	2	3	0	1	3	4	0	1	4	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:66217204C>T	ENST00000273854.3	-	14	3011	c.2411G>A	c.(2410-2412)aGa>aAa	p.R804K	EPHA5_ENST00000511294.1_Missense_Mutation_p.R805K|EPHA5_ENST00000354839.4_Missense_Mutation_p.R782K|EPHA5_ENST00000432638.2_Missense_Mutation_p.R641K	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	804	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TAAGATGTTTCTGGCAGCAAG	0.473										TSP Lung(17;0.13)			18	65					0	0	0	0	T	66217204	C	T	66217204	3	4	8	1	0	0	0	0	1	0	0	0	5208	913	32	2	722	2	EPHA5	4	66217204	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	11852276	66217204	124937072	146	2014											
UBA6	55236	broad.mit.edu	37	chr4	68514899	68514899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgggcagtccaagagaGccaatgcacaatgtcagcat	12	7	11	11	0	1	1	1	0	0	1	2	2	2	1	3	1	3	3	3	1	3	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:68514899G>A	ENST00000322244.4	-	14	1194	c.1135C>T	c.(1135-1137)Ctc>Ttc	p.L379F		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	379					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GTCCAAGAGAGCCAATGCACA	0.398													12	49					0	0	0	0	A	68514899	G	A	68514899	3	1	8	1	0	0	0	0	1	0	0	0	16928	971	34	4	2103	4	UBA6	4	68514899	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2297695	68514899	122639377	147	2015											
UGT2B15	7366	broad.mit.edu	37	chr4	69535910	69535910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgacatcaaactttgactCttgtagtttcatcataagtt	13	16	5	7	0	4	2	3	2	1	0	4	2	4	2	0	0	1	3	0	0	4	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:69535910C>T	ENST00000338206.5	-	1	436	c.427G>A	c.(427-429)Gag>Aag	p.E143K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	143					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AACTTTGACTCTTGTAGTTTC	0.363													95	271					0	0	0	0	T	69535910	C	T	69535910	3	4	8	1	0	0	0	0	1	0	0	0	17054	922	32	2	2806	2	UGT2B15	4	69535910	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1021011	69535910	121618366	148	2016											
UGT2A3	79799	broad.mit.edu	37	chr4	69816835	69816835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagaagtggaacaaaactGaaagcattgaattttttact	16	12	7	6	0	0	3	0	2	0	1	1	4	1	4	1	1	4	1	1	1	7	4	rs138523993		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:69816835G>A	ENST00000251566.4	-	1	674	c.644C>T	c.(643-645)tCa>tTa	p.S215L	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	215						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAACAAAACTGAAAGCATTGA	0.358													13	33					0	0	0	0	A	69816835	G	A	69816835	3	1	8	1	0	0	0	0	1	0	0	0	17051	1294	45	2	963	2	UGT2A3	4	69816835	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	280925	69816835	121337441	149	2017											
ADAMTS3	9508	broad.mit.edu	37	chr4	73149386	73149386	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtgccaacacttccatttGacagaatatggacttgtctc	10	13	7	11	1	1	2	0	1	1	1	4	3	2	3	2	1	2	0	2	1	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:73149386G>A	ENST00000286657.4	-	22	3121	c.3085C>T	c.(3085-3087)Caa>Taa	p.Q1029*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1029	PLAC.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTTCCATTTGACAGAATATG	0.393													25	63					0	0	0	0	A	73149386	G	A	73149386	4	1	8	1	0	0	0	0	0	1	0	0	267	1299	45	2	536	2	ADAMTS3	4	73149386	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3332551	73149386	118004890	150	2018											
PARM1	25849	broad.mit.edu	37	chr4	75938051	75938051	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cactcatctcccctcaagctCcagcctcatcaccctcatcc	8	9	2	22	0	6	0	5	0	1	0	9	0	8	0	6	0	2	1	6	0	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:75938051C>G	ENST00000307428.7	+	2	672	c.460C>G	c.(460-462)Cca>Gca	p.P154A	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	154					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCTCAAGCTCCAGCCTCATC	0.587													59	204					0	0	0	0	G	75938051	C	G	75938051	3	3	8	1	0	0	0	0	1	0	0	0	11523	855	30	2	466	2	PARM1	4	75938051	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2788665	75938051	115216225	151	2019											
USO1	8615	broad.mit.edu	37	chr4	76703974	76703974	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgaaaattctggctggtCtgcacagaaagtgaccaatc	14	9	10	8	0	2	4	0	2	2	2	3	4	2	4	1	2	1	2	1	2	4	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:76703974C>G	ENST00000538159.1	+	9	824	c.824C>G	c.(823-825)tCt>tGt	p.S275C	USO1_ENST00000514213.2_Missense_Mutation_p.S258C			O60763	USO1_HUMAN	USO1 vesicle transport factor	273	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTGGCTGGTCTGCACAGAAA	0.328													5	30					0	0	0	0	G	76703974	C	G	76703974	3	3	8	1	0	0	0	0	1	0	0	0	17135	913	32	2	693	2	USO1	4	76703974	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	765923	76703974	114450302	152	2020											
SEC31A	22872	broad.mit.edu	37	chr4	83791497	83791497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctctcctgtgtttggattgGagcagagaatcttagcatct	8	14	10	9	0	3	1	0	0	3	1	4	4	3	3	2	2	2	3	2	2	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:83791497G>C	ENST00000432794.1	-	8	1026	c.863C>G	c.(862-864)tCc>tGc	p.S288C	SEC31A_ENST00000513858.1_Missense_Mutation_p.S288C|SEC31A_ENST00000264405.5_Missense_Mutation_p.S60C|SEC31A_ENST00000311785.7_Missense_Mutation_p.S288C|SEC31A_ENST00000509142.1_Missense_Mutation_p.S288C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S288C|SEC31A_ENST00000505984.1_Missense_Mutation_p.S288C|SEC31A_ENST00000505472.1_Missense_Mutation_p.S288C|SEC31A_ENST00000448323.1_Missense_Mutation_p.S288C|SEC31A_ENST00000443462.2_Missense_Mutation_p.S283C|SEC31A_ENST00000395310.2_Missense_Mutation_p.S288C|SEC31A_ENST00000355196.2_Missense_Mutation_p.S288C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S288C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S288C|SEC31A_ENST00000508479.1_Missense_Mutation_p.S288C|SEC31A_ENST00000500777.2_Missense_Mutation_p.S288C|SEC31A_ENST00000436790.2_5'UTR			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	288	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTTTGGATTGGAGCAGAGAAT	0.408													38	134					0	0	0	0	C	83791497	G	C	83791497	3	2	8	1	0	0	0	0	1	0	0	0	14085	1174	41	2	2879	2	SEC31A	4	83791497	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	7087523	83791497	107362779	153	2021											
MANBA	4126	broad.mit.edu	37	chr4	103585971	103585971	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcattttcattattgccactCcatatgatgatagaaggatg	12	15	7	7	0	2	3	2	2	0	1	3	4	3	4	2	1	1	0	2	1	4	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:103585971C>T	ENST00000226578.4	-	11	1455	c.1356G>A	c.(1354-1356)tgG>tgA	p.W452*	MANBA_ENST00000505239.1_Nonsense_Mutation_p.W395*	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	452					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TATTGCCACTCCATATGATGA	0.343													24	73					0	0	0	0	T	103585971	C	T	103585971	4	4	8	1	0	0	0	0	0	1	0	0	9288	856	30	2	1311	2	MANBA	4	103585971	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	19794474	103585971	87568305	154	2022											
COL25A1	84570	broad.mit.edu	37	chr4	109780855	109780856	+	Frame_Shift_Ins	INS	-	-	TGGC																															gttgtagtctatgatctcagINStggctccttgatcccctttt																										TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:109780855_109780856insTGGC	ENST00000399132.1	-	24	1806_1807	c.1276_1277insGCCA	c.(1276-1278)tgafs	p.*426fs	COL25A1_ENST00000399127.1_Frame_Shift_Ins_p.*407fs|COL25A1_ENST00000399126.1_Frame_Shift_Ins_p.*426fs	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	426						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TATGATCTCAGTGGCTCCTTGA	0.51													11	70	---	---	---	---					TGGC	109780856	-	TGGC	109780855	7	5	8	1	0	1	1	0	0	0	0	0	3714	1029	36	0	831	0	COL25A1	4	109780855	Frame_Shift_Ins	INS	-	TCGA-BA-5152-01A-02D-1870-08	6194884	109780855	81373421	155	2023											
ENPEP	2028	broad.mit.edu	37	chr4	111470954	111470954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcatggaactacactcttGagcaataccagaaaacttca	15	11	5	10	0	3	2	2	1	1	1	3	3	3	3	1	1	5	1	1	1	6	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:111470954G>C	ENST00000265162.5	+	17	2755	c.2413G>C	c.(2413-2415)Gag>Cag	p.E805Q		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	805					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTACACTCTTGAGCAATACCA	0.413													22	61					0	0	0	0	C	111470954	G	C	111470954	3	2	8	1	0	0	0	0	1	0	0	0	5166	1291	45	2	2479	2	ENPEP	4	111470954	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1690099	111470954	79683322	156	2024											
C4orf21	55345	broad.mit.edu	37	chr4	113468485	113468485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtttgttccaatccattttCatgagctgcatcagaaccct	10	14	6	11	0	2	2	2	1	0	1	4	2	4	2	3	0	3	4	3	0	2	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:113468485C>T	ENST00000505019.1	-	24	5679	c.5554G>A	c.(5554-5556)Gaa>Aaa	p.E1852K		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AATCCATTTTCATGAGCTGCA	0.363													10	57					0	0	0	0	T	113468485	C	T	113468485	3	4	8	1	0	0	0	0	1	0	0	0	2275	835	29	2	780	2	C4orf21	4	113468485	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1997531	113468485	77685791	157	2025											
SEC24D	9871	broad.mit.edu	37	chr4	119736304	119736304	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcctgccatctggggaccaGagttggctgcttggaaaaaa	10	8	13	10	1	1	1	0	0	1	1	1	3	1	3	3	4	2	3	3	4	3	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:119736304G>C	ENST00000379735.5	-	6	954	c.683C>G	c.(682-684)tCt>tGt	p.S228C	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.S227C	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	227	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTGGGGACCAGAGTTGGCTGC	0.498													20	64					0	0	0	0	C	119736304	G	C	119736304	3	2	8	1	0	0	0	0	1	0	0	0	14084	942	33	2	2490	2	SEC24D	4	119736304	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	6267819	119736304	71417972	158	2026											
FAT4	79633	broad.mit.edu	37	chr4	126241934	126241934	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattaatggtcaactatcCtacacaatcattcaacagat	16	11	4	10	0	3	1	3	0	0	1	4	2	4	1	1	1	3	0	1	1	6	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:126241934C>A	ENST00000394329.3	+	1	4381	c.4368C>A	c.(4366-4368)tcC>tcA	p.S1456S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1456	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCAACTATCCTACACAATCA	0.388													27	101					4.22769e-11	4.45773e-11	1	0	A	126241934	C	A	126241934	2	1	8	1	0	0	0	0	0	0	0	1	5737	668	24	4		4	FAT4	4	126241934	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	6505630	126241934	64912342	159	2027											
PDZD2	23037	broad.mit.edu	37	chr5	32091009	32091009	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctccaagctccaggagctGagagccttgagcatgcctga	9	7	12	13	1	0	3	0	3	0	1	2	5	2	4	4	1	5	4	4	1	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:32091009G>C	ENST00000438447.1	+	20	7843	c.7455G>C	c.(7453-7455)ctG>ctC	p.L2485L	PDZD2_ENST00000282493.3_Silent_p.L2485L			O15018	PDZD2_HUMAN	PDZ domain containing 2	2485					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCAGGAGCTGAGAGCCTTGA	0.607													30	59					0	0	0	0	C	32091009	G	C	32091009	2	2	8	1	0	0	0	0	0	0	0	1	11772	1277	45	2		2	PDZD2	5	32091009	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08		32091009	148824251	160	2028											
SKP2	6502	broad.mit.edu	37	chr5	36181975	36181975	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtttttggaatcgtgccaGatggtacccttcaactgtta	10	14	9	8	1	1	1	1	0	0	1	2	2	1	2	2	2	3	3	2	2	5	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:36181975G>C	ENST00000274255.6	+	10	1313	c.1117G>C	c.(1117-1119)Gat>Cat	p.D373H	SKP2_ENST00000274254.5_Intron|SKP2_ENST00000508514.1_Missense_Mutation_p.D166H|SKP2_ENST00000546211.1_Missense_Mutation_p.D159H	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	373					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATCGTGCCAGATGGTACCCT	0.403													65	159					0	0	0	0	C	36181975	G	C	36181975	3	2	8	1	0	0	0	0	1	0	0	0	14450	942	33	2	1155	2	SKP2	5	36181975	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	4090966	36181975	144733285	161	2029											
WDR70	55100	broad.mit.edu	37	chr5	37479940	37479940	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcttttcgtacagccatCagatcaagtcattacagtat	11	16	5	9	1	4	1	3	0	1	1	5	1	4	1	1	0	3	2	1	0	4	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:37479940C>T	ENST00000265107.4	+	8	847	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.Q231*|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	231										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTACAGCCATCAGATCAAGTC	0.338													30	107					0	0	0	0	T	37479940	C	T	37479940	4	4	8	1	0	0	0	0	0	1	0	0	17417	827	29	2	721	2	WDR70	5	37479940	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1297965	37479940	143435320	162	2030											
C5orf51	285636	broad.mit.edu	37	chr5	41911231	41911231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtatatgtattgtcattctCttaccaaaagaagagagtgg	13	14	9	5	0	2	2	1	0	1	2	3	3	2	2	1	1	1	2	1	1	7	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:41911231C>G	ENST00000381647.2	+	4	455	c.436C>G	c.(436-438)Ctt>Gtt	p.L146V	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	146										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TTGTCATTCTCTTACCAAAAG	0.388													16	44					0	0	0	0	G	41911231	C	G	41911231	3	3	8	1	0	0	0	0	1	0	0	0	2329	913	32	2	450	2	C5orf51	5	41911231	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	4431291	41911231	139004029	163	2031											
PAIP1	10605	broad.mit.edu	37	chr5	43535702	43535702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttcttccatatccatctttCctttttccttccaagcatct	6	20	1	14	0	3	0	0	0	3	0	8	0	8	0	5	0	1	1	5	0	2	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:43535702C>T	ENST00000306846.3	-	7	1245	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E	PAIP1_ENST00000338972.4_Missense_Mutation_p.G226E|PAIP1_ENST00000514514.1_Missense_Mutation_p.G259E|PAIP1_ENST00000436644.2_Missense_Mutation_p.G259E	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	338	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ATCCATCTTTCCTTTTTCCTT	0.328													15	46					0	0	0	0	T	43535702	C	T	43535702	3	4	8	1	0	0	0	0	1	0	0	0	11467	855	30	2	446	2	PAIP1	5	43535702	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1624471	43535702	137379558	164	2032											
NNT	23530	broad.mit.edu	37	chr5	43616149	43616149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggatatgatgcgctaagctCcatggccaacattgcggggt	9	9	14	9	2	0	1	0	1	0	0	1	2	1	2	2	4	4	2	2	4	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:43616149C>T	ENST00000264663.5	+	4	802	c.581C>T	c.(580-582)tCc>tTc	p.S194F	NNT_ENST00000512996.2_Missense_Mutation_p.S63F|NNT_ENST00000344920.4_Missense_Mutation_p.S194F	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	194					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GCGCTAAGCTCCATGGCCAAC	0.433													64	133					0	0	0	0	T	43616149	C	T	43616149	3	4	8	1	0	0	0	0	1	0	0	0	10580	855	30	2	591	2	NNT	5	43616149	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	80447	43616149	137299111	165	2033											
PARP8	79668	broad.mit.edu	37	chr5	50091070	50091070	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttactctagtaatctcaGaatggaagaattatatggac	14	13	8	6	0	3	2	1	0	3	2	4	4	3	4	0	2	1	1	0	2	8	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:50091070G>C	ENST00000281631.5	+	12	1405	c.1247G>C	c.(1246-1248)aGa>aCa	p.R416T	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.R416T|PARP8_ENST00000514342.2_Missense_Mutation_p.R169T|PARP8_ENST00000503750.2_Missense_Mutation_p.R416T|PARP8_ENST00000505554.1_Missense_Mutation_p.R395T|PARP8_ENST00000505697.2_Missense_Mutation_p.R416T	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	416						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGTAATCTCAGAATGGAAGAA	0.418													12	76					0	0	0	0	C	50091070	G	C	50091070	3	2	8	1	0	0	0	0	1	0	0	0	11536	942	33	2	1293	2	PARP8	5	50091070	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	6474921	50091070	130824190	166	2034											
MAST4	375449	broad.mit.edu	37	chr5	66456300	66456300	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagagtgggaataaggtgtCaatcactactaccccatttg	12	12	9	8	0	2	1	2	0	0	1	2	2	2	2	2	2	2	0	2	2	6	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:66456300C>G	ENST00000404260.3	+	27	3982	c.3674C>G	c.(3673-3675)tCa>tGa	p.S1225*	MAST4_ENST00000403666.1_Nonsense_Mutation_p.S1033*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.S1043*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.S1028*|MAST4_ENST00000403625.2_Nonsense_Mutation_p.S1222*			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1225	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AATAAGGTGTCAATCACTACT	0.423													64	186					0	0	0	0	G	66456300	C	G	66456300	4	3	8	1	0	0	0	0	0	1	0	0	9396	838	29	2	3901	2	MAST4	5	66456300	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	16365230	66456300	114458960	167	2035											
GCNT4	51301	broad.mit.edu	37	chr5	74324700	74324700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccataaatacacacgcttCgaaggtgagatccagtacaa	15	8	7	11	2	0	1	0	1	0	1	3	3	2	1	2	1	2	2	2	1	6	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:74324700C>T	ENST00000322348.4	-	1	2024	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	388					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		ACACACGCTTCGAAGGTGAGA	0.418													24	64					0	0	0	0	T	74324700	C	T	74324700	3	4	8	1	0	0	0	0	1	0	0	0	6352	884	31	1	202	1	GCNT4	5	74324700	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7868400	74324700	106590560	168	2036											
HMGCR	3156	broad.mit.edu	37	chr5	74646146	74646146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccattttgcccgagttttaGaagaagaagaaaataagccg	15	9	10	7	2	0	4	0	0	0	4	0	5	0	4	3	0	2	1	3	0	7	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:74646146G>A	ENST00000287936.4	+	8	883	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	HMGCR_ENST00000511206.1_Missense_Mutation_p.E243K|HMGCR_ENST00000343975.5_Missense_Mutation_p.E243K	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	243					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCGAGTTTTAGAAGAAGAAGA	0.413													5	65					0	0	0	0	A	74646146	G	A	74646146	3	1	8	1	0	0	0	0	1	0	0	0	7281	943	33	2	753	2	HMGCR	5	74646146	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	321446	74646146	106269114	169	2037											
S100Z	170591	broad.mit.edu	37	chr5	76171314	76171314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctgcagcgagagctcacgGaattcctctcggtgagtcag	8	9	12	12	3	3	2	2	1	1	1	6	4	5	3	2	2	3	2	2	2	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:76171314G>A	ENST00000317593.4	+	3	362	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	S100Z_ENST00000513010.1_Missense_Mutation_p.E44K	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	44	EF-hand 1.						calcium ion binding			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		AGAGCTCACGGAATTCCTCTC	0.493													32	111					0	0	0	0	A	76171314	G	A	76171314	3	1	8	1	0	0	0	0	1	0	0	0	13877	1175	41	2	132	2	S100Z	5	76171314	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1525168	76171314	104743946	170	2038											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81613993	81613993	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccaacaatatgatctcatCgcctctcctgcccacttctc	9	11	4	17	1	3	1	1	1	3	0	7	2	3	1	4	0	2	0	4	0	3	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:81613993C>T	ENST00000380167.4	+	10	1874	c.549C>T	c.(547-549)atC>atT	p.I183I	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.I183I			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	183					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						ATGATCTCATCGCCTCTCCTG	0.557													17	70					0	0	0	0	T	81613993	C	T	81613993	2	4	8	1	0	0	0	0	0	0	0	1	1170	874	31	1		1	ATP6AP1L	5	81613993	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	5442679	81613993	99301267	171	2039											
CETN3	1070	broad.mit.edu	37	chr5	89705476	89705476	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgacctcagagctaaactCattatctcttcgcacagaga	13	9	6	13	2	3	2	2	0	1	2	5	4	3	2	2	0	2	2	2	0	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:89705476C>T	ENST00000283122.3	-	1	127	c.3G>A	c.(1-3)atG>atA	p.M1I	CETN3_ENST00000522083.1_Start_Codon_SNP_p.M1I|CETN3_ENST00000522864.1_Start_Codon_SNP_p.M1I|CETN3_ENST00000522565.1_Start_Codon_SNP_p.M1I|CETN3_ENST00000522842.1_Start_Codon_SNP_p.M1I	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	1					cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		GAGCTAAACTCATTATCTCTT	0.582													38	114					0	0	0	0	T	89705476	C	T	89705476	1	4	8	1	0	0	0	0	0	0	0	0	3305	826	29	2		2	CETN3	5	89705476	Translation_Start_Site	SNP	C	TCGA-BA-5152-01A-02D-1870-08	8091483	89705476	91209784	172	2040											
NR2F1	7025	broad.mit.edu	37	chr5	92929548	92929548	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtccatccagtgctcctaGaccttgggcgcttcccacct	6	11	8	16	1	0	1	0	0	0	1	4	1	4	1	6	1	1	2	6	1	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:92929548G>C	ENST00000327111.3	+	3	2959	c.1272G>C	c.(1270-1272)taG>taC	p.*424Y	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	0					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AGTGCTCCTAGACCTTGGGCG	0.597													8	85					0	0	0	0	C	92929548	G	C	92929548	4	2	8	1	0	0	0	0	0	0	0	0	10698	937	33	2	1282	2	NR2F1	5	92929548	Nonstop_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3224072	92929548	87985712	173	2041											
FEM1C	56929	broad.mit.edu	37	chr5	114860317	114860317	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatcagcaccacattctatCagtattgcagtaacttgtag	13	12	6	10	0	3	0	2	0	1	0	3	0	3	0	1	0	3	5	1	0	4	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:114860317C>T	ENST00000274457.3	-	3	2103	c.1542G>A	c.(1540-1542)ctG>ctA	p.L514L		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	514						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		CACATTCTATCAGTATTGCAG	0.443													5	222					0	0	0	0	T	114860317	C	T	114860317	2	4	8	1	0	0	0	0	0	0	0	1	5856	813	29	2		2	FEM1C	5	114860317	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	21930769	114860317	66054943	174	2042											
FBN2	2201	broad.mit.edu	37	chr5	127654636	127654636	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgcaatgaaacattccaGgcaggttattacatgttcca	14	11	8	8	0	0	2	0	1	0	1	2	2	2	2	2	2	3	4	2	2	4	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:127654636G>C	ENST00000508053.1	-	41	5503	c.4529C>G	c.(4528-4530)cCt>cGt	p.P1510R	FBN2_ENST00000262464.4_Missense_Mutation_p.P1510R			P35556	FBN2_HUMAN	fibrillin 2	1510	EGF-like 25; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAACATTCCAGGCAGGTTATT	0.358													5	113					0	0	0	0	C	127654636	G	C	127654636	3	2	8	1	0	0	0	0	1	0	0	0	5748	1000	35	4	4333	4	FBN2	5	127654636	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	12794319	127654636	53260624	175	2043											
SLC27A6	28965	broad.mit.edu	37	chr5	128364098	128364098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttattggaatgttggatttCatacaggaagcaaacgtcta	13	13	10	5	1	2	0	1	0	1	0	2	3	2	3	0	3	3	3	0	3	6	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:128364098C>T	ENST00000262462.4	+	8	2525	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	SLC27A6_ENST00000506176.1_Silent_p.F505F|SLC27A6_ENST00000395266.1_Silent_p.F505F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	505					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGTTGGATTTCATACAGGAAG	0.343													18	68					0	0	0	0	T	128364098	C	T	128364098	2	4	8	1	0	0	0	0	0	0	0	1	14618	825	29	2		2	SLC27A6	5	128364098	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	709462	128364098	52551162	176	2044											
SPOCK1	6695	broad.mit.edu	37	chr5	136403477	136403477	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcccatcacagagggtggcGaggcttttgccagtagaaca	10	7	14	10	1	1	2	1	0	0	2	1	3	1	2	2	4	2	2	2	4	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:136403477G>A	ENST00000394945.1	-	6	685	c.516C>T	c.(514-516)ctC>ctT	p.L172L	SPOCK1_ENST00000282223.7_Silent_p.L172L	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	172	Kazal-like.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.L172L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAGGGTGGCGAGGCTTTTGC	0.527													48	159					0	0	0	0	A	136403477	G	A	136403477	2	1	8	1	0	0	0	0	0	0	0	1	15169	1045	37	1		1	SPOCK1	5	136403477	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	8039379	136403477	44511783	177	2045											
KLHL3	26249	broad.mit.edu	37	chr5	136964011	136964011	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgccggcacatgttcatGtctgccacttgcttccaggt	5	13	10	13	2	2	0	1	0	1	0	3	0	3	0	3	2	3	3	3	2	0	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:136964011G>A	ENST00000508657.1	-	13	2184	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D	KLHL3_ENST00000506491.1_Silent_p.D440D|KLHL3_ENST00000309755.4_Silent_p.D522D|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_3'UTR	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	522						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ACATGTTCATGTCTGCCACTT	0.547													29	195					0	0	0	0	A	136964011	G	A	136964011	2	1	8	1	0	0	0	0	0	0	0	1	8435	1368	48	4		4	KLHL3	5	136964011	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	560534	136964011	43951249	178	2046											
KLHL3	26249	broad.mit.edu	37	chr5	137028128	137028128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcagcaagctggctgccggGagcagcacctgcaagagaag	11	4	15	11	1	0	1	0	0	0	1	0	3	0	2	2	2	7	7	2	2	3	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:137028128G>A	ENST00000541417.1	-	3	559	c.17C>T	c.(16-18)tCc>tTc	p.S6F	KLHL3_ENST00000506491.1_Silent_p.L42L|KLHL3_ENST00000394937.3_Silent_p.L124L|KLHL3_ENST00000309755.4_Silent_p.L124L|KLHL3_ENST00000508657.1_Silent_p.L92L			Q9UH77	KLHL3_HUMAN	kelch-like family member 3	0						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGGCTGCCGGGAGCAGCACCT	0.527													8	43					0	0	0	0	A	137028128	G	A	137028128	3	1	8	1	0	0	0	0	1	0	0	0	8435	1161	41	2	1435	2	KLHL3	5	137028128	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	64117	137028128	43887132	179	2047											
BRD8	10902	broad.mit.edu	37	chr5	137497522	137497522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagccaggtgctatgtcatCtgtaacaggctgcaggaaga	11	9	13	8	0	2	1	1	0	1	1	2	2	2	2	1	3	4	5	1	3	4	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:137497522C>T	ENST00000254900.5	-	17	2583	c.2212G>A	c.(2212-2214)Gat>Aat	p.D738N	BRD8_ENST00000230901.5_Missense_Mutation_p.D811N|BRD8_ENST00000455658.2_Missense_Mutation_p.D697N|BRD8_ENST00000402931.1_Missense_Mutation_p.D738N|BRD8_ENST00000411594.2_Missense_Mutation_p.D741N|BRD8_ENST00000515014.1_5'UTR	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	738	Bromo 1.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTATGTCATCTGTAACAGGC	0.463													16	65					0	0	0	0	T	137497522	C	T	137497522	3	4	8	1	0	0	0	0	1	0	0	0	1514	913	32	2	1603	2	BRD8	5	137497522	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	469394	137497522	43417738	180	2048											
KDM3B	51780	broad.mit.edu	37	chr5	137754821	137754821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaatagcaatagtgaactGaaagccatcaggcctccttg	14	9	8	10	0	2	2	2	2	0	0	3	2	3	2	3	1	3	1	3	1	6	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:137754821G>A	ENST00000314358.5	+	14	3815	c.3615G>A	c.(3613-3615)ctG>ctA	p.L1205L	KDM3B_ENST00000542866.1_Silent_p.L237L|KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Silent_p.L861L	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1205					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATAGTGAACTGAAAGCCATCA	0.522													20	50					0	0	0	0	A	137754821	G	A	137754821	2	1	8	1	0	0	0	0	0	0	0	1	8180	1277	45	2		2	KDM3B	5	137754821	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	257299	137754821	43160439	181	2049											
PCDHA10	56139	broad.mit.edu	37	chr5	140236754	140236754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgccctaatcagcgtttCtgaccatgattcaggagcca	10	11	8	12	1	3	2	2	2	1	0	3	3	3	3	3	1	3	1	3	1	1	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:140236754C>G	ENST00000307360.5	+	1	1121	c.1121C>G	c.(1120-1122)tCt>tGt	p.S374C	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S374C|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAGCGTTTCTGACCATGAT	0.488													33	133					0	0	0	0	G	140236754	C	G	140236754	3	3	8	1	0	0	0	0	1	0	0	0	11591	913	32	2	1123	2	PCDHA10	5	140236754	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2481933	140236754	40678506	182	2050											
PCDHA10	56139	broad.mit.edu	37	chr5	140236766	140236766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcgtttctgaccatgattCaggagccaacggacaggtca	11	8	11	11	2	3	2	2	2	1	0	3	4	3	4	2	3	3	1	2	3	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:140236766C>T	ENST00000307360.5	+	1	1133	c.1133C>T	c.(1132-1134)tCa>tTa	p.S378L	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S378L|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCATGATTCAGGAGCCAAC	0.512													32	136					0	0	0	0	T	140236766	C	T	140236766	3	4	8	1	0	0	0	0	1	0	0	0	11591	838	29	2	1135	2	PCDHA10	5	140236766	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	12	140236766	40678494	183	2051											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764372	140764372	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcgggccctgctggacagaGatgccctcaagcagagcctc	8	6	12	15	1	1	2	1	0	0	2	3	4	1	3	3	2	4	2	3	2	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:140764372G>C	ENST00000518325.1	+	1	1906	c.1906G>C	c.(1906-1908)Gat>Cat	p.D636H	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACAGAGATGCCCTCAA	0.652													16	46					0	0	0	0	C	140764372	G	C	140764372	3	2	8	1	0	0	0	0	1	0	0	0	11630	942	33	2	1908	2	PCDHGA7	5	140764372	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	527606	140764372	40150888	184	2052											
PCDHGA10	56106	broad.mit.edu	37	chr5	140793078	140793078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcgtggtgagttttaatatCcttgtggaagacagggtgaa	10	13	14	4	1	0	3	0	2	0	1	1	4	1	4	1	3	1	1	1	3	4	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:140793078C>G	ENST00000398610.2	+	1	336	c.336C>G	c.(334-336)atC>atG	p.I112M	PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTTAATATCCTTGTGGAAG	0.488													42	99					0	0	0	0	G	140793078	C	G	140793078	3	3	8	1	0	0	0	0	1	0	0	0	11622	845	30	2	338	2	PCDHGA10	5	140793078	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	28706	140793078	40122182	185	2053											
ARHGAP26	23092	broad.mit.edu	37	chr5	142283207	142283207	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatcagtccctacaccatgGagggatacctctacgtgcag	10	8	9	14	1	2	0	1	0	1	0	3	2	3	2	4	2	4	1	4	2	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:142283207G>T	ENST00000378004.3	+	8	1160	c.805G>T	c.(805-807)Gag>Tag	p.E269*	ARHGAP26_ENST00000274498.4_Nonsense_Mutation_p.E269*	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	269	PH.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTACACCATGGAGGGATACCT	0.473													22	73					2.89027e-11	3.05202e-11	1	0	T	142283207	G	T	142283207	4	4	8	1	0	0	0	0	0	1	0	0	877	1175	41	2	835	2	ARHGAP26	5	142283207	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1490129	142283207	38632053	186	2054											
SLC36A2	153201	broad.mit.edu	37	chr5	150723127	150723127	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatacagtggcaggcaatGaagcccatcaccagcagact	13	6	10	12	0	1	2	1	1	0	1	1	2	1	2	2	2	4	4	2	2	3	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:150723127G>A	ENST00000335244.4	-	3	417	c.288C>T	c.(286-288)ttC>ttT	p.F96F	SLC36A2_ENST00000521967.1_Silent_p.F96F	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	96					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCAGGCAATGAAGCCCATCA	0.527													31	109					0	0	0	0	A	150723127	G	A	150723127	2	1	8	1	0	0	0	0	0	0	0	1	14682	1281	45	2		2	SLC36A2	5	150723127	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	8439920	150723127	30192133	187	2055											
G3BP1	10146	broad.mit.edu	37	chr5	151169928	151169928	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtccatgggggattggattCaaatggaaagccagcagatg	12	9	14	6	0	1	1	1	0	0	1	2	4	2	4	2	4	2	1	2	4	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:151169928C>G	ENST00000394123.3	+	3	285	c.140C>G	c.(139-141)tCa>tGa	p.S47*	G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Nonsense_Mutation_p.S47*			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	47	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GGATTGGATTCAAATGGAAAG	0.343													6	30					0	0	0	0	G	151169928	C	G	151169928	4	3	8	1	0	0	0	0	0	1	0	0	6189	838	29	2	146	2	G3BP1	5	151169928	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	446801	151169928	29745332	188	2056											
SLIT3	6586	broad.mit.edu	37	chr5	168127613	168127613	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatccttgtggctgtcactCaggtggcaggtgcctccatg	5	11	12	13	0	2	0	2	0	0	0	4	0	4	0	4	4	1	2	4	4	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:168127613C>G	ENST00000519560.1	-	27	3335	c.2916G>C	c.(2914-2916)ctG>ctC	p.L972L	SLIT3_ENST00000404867.3_Silent_p.L972L|SLIT3_ENST00000332966.8_Silent_p.L979L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	972	EGF-like 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTGTCACTCAGGTGGCAGG	0.537													27	71					0	0	0	0	G	168127613	C	G	168127613	2	3	8	1	0	0	0	0	0	0	0	1	14829	813	29	2		2	SLIT3	5	168127613	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	16957685	168127613	12787647	189	2057											
ZFP2	80108	broad.mit.edu	37	chr5	178358745	178358745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acacttcattgaacgatcctCccttactgtacatcaaagaa	14	11	4	12	1	2	2	2	1	0	1	4	3	4	2	2	0	3	1	2	0	5	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:178358745C>T	ENST00000361362.2	+	5	961	c.431C>T	c.(430-432)tCc>tTc	p.S144F	ZFP2_ENST00000523286.1_Missense_Mutation_p.S144F|ZFP2_ENST00000503510.2_Missense_Mutation_p.S144F|ZFP2_ENST00000520301.1_Missense_Mutation_p.S144F	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GAACGATCCTCCCTTACTGTA	0.403													19	58					0	0	0	0	T	178358745	C	T	178358745	3	4	8	1	0	0	0	0	1	0	0	0	17736	855	30	2	433	2	ZFP2	5	178358745	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	10231132	178358745	2556515	190	2058											
ZFP2	80108	broad.mit.edu	37	chr5	178359095	178359095	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatgcatcttattgtacatCagagaagccatactggagaa	14	10	9	8	0	2	2	1	0	1	2	2	4	2	2	1	1	4	3	1	1	5	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:178359095C>T	ENST00000361362.2	+	5	1311	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	ZFP2_ENST00000523286.1_Nonsense_Mutation_p.Q261*|ZFP2_ENST00000503510.2_Nonsense_Mutation_p.Q261*|ZFP2_ENST00000520301.1_Nonsense_Mutation_p.Q261*	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TATTGTACATCAGAGAAGCCA	0.398													23	76					0	0	0	0	T	178359095	C	T	178359095	4	4	8	1	0	0	0	0	0	1	0	0	17736	827	29	2	783	2	ZFP2	5	178359095	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	350	178359095	2556165	191	2059											
HLA-A	3105	broad.mit.edu	37	chr6	29910683	29910683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggagccgcgggcgccgTggatagagcaggaggggccg	7	3	22	9	5	0	1	0	0	0	1	0	5	0	5	3	7	2	1	3	7	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:29910683T>C	ENST00000396634.1	+	4	564	c.223T>C	c.(223-225)Tgg>Cgg	p.W75R	HLA-A_ENST00000376802.2_Missense_Mutation_p.W75R|HLA-A_ENST00000376809.5_Missense_Mutation_p.W75R|HLA-A_ENST00000376806.5_Missense_Mutation_p.W75R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	75	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCGGGCGCCGTGGATAGAGCA	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			11	16					0	0	0	0	C	29910683	T	C	29910683	3	2	8	1	0	0	0	0	1	0	0	0	7245	1696	59	5	229	5	HLA-A	6	29910683	Missense_Mutation	SNP	T	TCGA-BA-5152-01A-02D-1870-08		29910683	141204384	192	2060											
EGFL8	80864	broad.mit.edu	37	chr6	32135415	32135415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcgaccaggtgctgctgctgGaggagaggctaggtgcctgt	6	8	18	9	1	0	1	0	0	0	1	0	4	0	2	2	5	4	4	2	5	1	1	rs17853434		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:32135415G>C	ENST00000395512.1	+	8	922	c.817G>C	c.(817-819)Gag>Cag	p.E273Q	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000489721.1_Intron|EGFL8_ENST00000333845.6_Missense_Mutation_p.E273Q			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	273				E -> Q (in Ref. 6; AAH35574).		extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						GCTGCTGCTGGAGGAGAGGCT	0.612													23	28					0	0	0	0	C	32135415	G	C	32135415	3	2	8	1	0	0	0	0	1	0	0	0	5001	1175	41	2	843	2	EGFL8	6	32135415	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2224732	32135415	138979652	193	2061											
BRD2	6046	broad.mit.edu	37	chr6	32942323	32942323	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggattcgaaaaccctctctCttgtatgagggctttgagag	10	12	11	8	1	2	2	0	2	2	1	4	5	2	3	1	2	1	2	1	2	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:32942323C>T	ENST00000395289.2	+	3	1715	c.114C>T	c.(112-114)ctC>ctT	p.L38L	BRD2_ENST00000449085.2_5'UTR|BRD2_ENST00000374825.4_Silent_p.L38L|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000374831.4_Silent_p.L38L|BRD2_ENST00000395287.1_Silent_p.L38L			P25440	BRD2_HUMAN	bromodomain containing 2	38					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AACCCTCTCTCTTGTATGAGG	0.582													10	80					0	0	0	0	T	32942323	C	T	32942323	2	4	8	1	0	0	0	0	0	0	0	1	1510	900	32	2		2	BRD2	6	32942323	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	806908	32942323	138172744	194	2062											
COL11A2	1302	broad.mit.edu	37	chr6	33154361	33154361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcctgggtgtcttccctCtctggggtgtgctgcacttg	2	14	14	11	0	2	0	0	0	2	0	4	1	3	0	2	3	3	2	2	3	0	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:33154361C>T	ENST00000395194.1	-	5	1054	c.841G>A	c.(841-843)Gag>Aag	p.E281K	COL11A2_ENST00000374713.1_Intron|COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000341947.2_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000357486.1_Intron|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000395197.1_Intron	NM_001163771.1	NP_001157243.1	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1217	Nonhelical 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						TGTCTTCCCTCTCTGGGGTGT	0.567													19	32					0	0	0	0	T	33154361	C	T	33154361	3	4	8	1	0	0	0	0	1	0	0	0	3698	922	32	2	4692	2	COL11A2	6	33154361	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	212038	33154361	137960706	195	2063											
ANKS1A	23294	broad.mit.edu	37	chr6	35027938	35027938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catcaggtttacggacgctgGagcagagtgtcggggagtgg	8	8	18	7	3	1	1	1	0	0	1	2	4	1	4	0	6	2	3	0	6	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:35027938G>A	ENST00000360359.3	+	13	2230	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	ANKS1A_ENST00000535627.1_Intron|ANKS1A_ENST00000470698.1_3'UTR	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	698	SAM 1.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACGGACGCTGGAGCAGAGTGT	0.527													6	17					0	0	0	0	A	35027938	G	A	35027938	3	1	8	1	0	0	0	0	1	0	0	0	687	1175	41	2	2142	2	ANKS1A	6	35027938	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1873577	35027938	136087129	196	2064											
DEF6	50619	broad.mit.edu	37	chr6	35280429	35280429	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtggaagcgagggcacctGagaaggaactgggccgaacg	11	4	17	9	3	0	1	0	1	0	1	0	6	0	3	2	4	3	1	2	4	4	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:35280429G>A	ENST00000316637.5	+	5	692	c.687G>A	c.(685-687)ctG>ctA	p.L229L	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	229	PH.					cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GAGGGCACCTGAGAAGGAACT	0.612													3	29					0	0	0	0	A	35280429	G	A	35280429	2	1	8	1	0	0	0	0	0	0	0	1	4418	1277	45	2		2	DEF6	6	35280429	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	252491	35280429	135834638	197	2065											
SRPK1	6732	broad.mit.edu	37	chr6	35888247	35888247	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttggggtacaagactcacttCctttgggctttgtccttctt	5	17	9	10	0	2	1	1	0	1	1	4	1	4	1	2	3	1	2	2	3	2	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:35888247C>T	ENST00000373825.2	-	2	357	c.72G>A	c.(70-72)agG>agA	p.R24R	SRPK1_ENST00000423325.2_5'UTR|SRPK1_ENST00000373822.1_5'UTR			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	24					cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						AGACTCACTTCCTTTGGGCTT	0.542													59	102					0	0	0	0	T	35888247	C	T	35888247	2	4	8	1	0	0	0	0	0	0	0	1	15249	854	30	2		2	SRPK1	6	35888247	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	607818	35888247	135226820	198	2066											
STK38	11329	broad.mit.edu	37	chr6	36475338	36475338	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtcctatgtgcttttttCagtcctgtgcaaagaccaaa	9	15	7	10	0	2	1	1	0	1	1	4	1	4	1	3	0	2	2	3	0	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:36475338C>T	ENST00000229812.7	-	8	996	c.711G>A	c.(709-711)ctG>ctA	p.L237L		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	237	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGCTTTTTTCAGTCCTGTGC	0.408													92	176					0	0	0	0	T	36475338	C	T	36475338	2	4	8	1	0	0	0	0	0	0	0	1	15393	813	29	2		2	STK38	6	36475338	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	587091	36475338	134639729	199	2067											
DNAH8	1769	broad.mit.edu	37	chr6	38791364	38791364	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggctaacaacccctctctGactgaaatcagatcagaaat	14	10	6	11	0	3	4	2	2	1	2	4	4	3	4	2	1	2	1	2	1	4	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:38791364G>C	ENST00000359357.3	+	26	3350	c.3096G>C	c.(3094-3096)ctG>ctC	p.L1032L	DNAH8_ENST00000449981.2_Silent_p.L1249L|DNAH8_ENST00000441566.1_Silent_p.L1032L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACCCCTCTCTGACTGAAATCA	0.318													11	61					0	0	0	0	C	38791364	G	C	38791364	2	2	8	1	0	0	0	0	0	0	0	1	4643	1277	45	2		2	DNAH8	6	38791364	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2316026	38791364	132323703	200	2068											
FOXP4	116113	broad.mit.edu	37	chr6	41552527	41552527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcctgtgtcggtggccatGatgtcgccgcagatgcttac	5	11	14	11	3	0	2	0	1	0	1	2	2	0	2	3	2	3	2	3	2	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:41552527G>A	ENST00000373060.1	+	4	779	c.321G>A	c.(319-321)atG>atA	p.M107I	FOXP4_ENST00000373063.3_Missense_Mutation_p.M107I|FOXP4_ENST00000373057.3_Missense_Mutation_p.M107I|FOXP4_ENST00000409208.1_Missense_Mutation_p.M107I|FOXP4_ENST00000307972.4_Missense_Mutation_p.M107I	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	107	Gln-rich.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CGGTGGCCATGATGTCGCCGC	0.662													3	6					0	0	0	0	A	41552527	G	A	41552527	3	1	8	1	0	0	0	0	1	0	0	0	6076	1290	45	2	331	2	FOXP4	6	41552527	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2761163	41552527	129562540	201	2069											
TRERF1	55809	broad.mit.edu	37	chr6	42227372	42227372	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggatgaagagaggttcCggccggtgccggaacttttt	7	9	17	8	4	0	2	0	1	0	1	1	5	1	4	3	6	2	1	3	6	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:42227372C>T	ENST00000541110.1	-	9	2602	c.2034G>A	c.(2032-2034)ccG>ccA	p.P678P	TRERF1_ENST00000354325.2_Silent_p.P575P|TRERF1_ENST00000340840.2_Silent_p.P575P|TRERF1_ENST00000372922.4_Silent_p.P658P|TRERF1_ENST00000372917.4_Silent_p.P575P			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	658	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGAGAGGTTCCGGCCGGTGCC	0.652													21	66					0	0	0	0	T	42227372	C	T	42227372	2	4	8	1	0	0	0	0	0	0	0	1	16570	639	23	1		1	TRERF1	6	42227372	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	674845	42227372	128887695	202	2070											
YIPF3	25844	broad.mit.edu	37	chr6	43480834	43480834	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaacatctgcagcatggtGatctgggcgttgcacaggta	9	9	13	10	1	2	1	0	1	2	0	2	1	2	1	1	3	4	5	1	3	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:43480834G>A	ENST00000372422.2	-	6	821	c.639C>T	c.(637-639)atC>atT	p.I213I	YIPF3_ENST00000506469.1_Silent_p.I219I	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	213					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCAGCATGGTGATCTGGGCGT	0.562													52	154					0	0	0	0	A	43480834	G	A	43480834	2	1	8	1	0	0	0	0	0	0	0	1	17575	1280	45	2		2	YIPF3	6	43480834	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1253462	43480834	127634233	203	2071											
GPR116	221395	broad.mit.edu	37	chr6	46851916	46851916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggaggaagacgtcacgctCttgacaaatgagattgtgaa	13	9	13	6	2	2	4	1	3	1	2	2	7	2	6	0	2	0	1	0	2	3	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46851916C>G	ENST00000283296.7	-	5	709	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	GPR116_ENST00000362015.4_Missense_Mutation_p.E141Q|GPR116_ENST00000456426.2_Missense_Mutation_p.E141Q|GPR116_ENST00000265417.7_Missense_Mutation_p.E141Q	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	141					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACGTCACGCTCTTGACAAATG	0.502													17	125					0	0	0	0	G	46851916	C	G	46851916	3	3	8	1	0	0	0	0	1	0	0	0	6682	922	32	2	3687	2	GPR116	6	46851916	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3371082	46851916	124263151	204	2072											
GPR110	266977	broad.mit.edu	37	chr6	46977116	46977116	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgatggaacacgaggatgatCcggtaagccagcaggatgcc	12	6	14	9	2	0	2	0	2	0	0	1	6	1	5	3	4	4	2	3	4	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977116C>T	ENST00000371253.2	-	11	2270	c.2055G>A	c.(2053-2055)cgG>cgA	p.R685R	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.R488R	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	685					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CGAGGATGATCCGGTAAGCCA	0.483													15	47					0	0	0	0	T	46977116	C	T	46977116	2	4	8	1	0	0	0	0	0	0	0	1	6676	842	30	2		2	GPR110	6	46977116	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	125200	46977116	124137951	205	2073			2	4		10	9	627	N	C	9.249249e-21
GPR110	266977	broad.mit.edu	37	chr6	46977149	46977149	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggatgccaagcatgagcatCcagaagaacaaagagaggta	18	4	12	7	0	0	4	0	1	0	3	1	6	1	5	2	2	4	3	2	2	5	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977149C>T	ENST00000371253.2	-	11	2237	c.2022G>A	c.(2020-2022)tgG>tgA	p.W674*	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Nonsense_Mutation_p.W477*	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	674					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GCATGAGCATCCAGAAGAACA	0.498													11	48					0	0	0	0	T	46977149	C	T	46977149	4	4	8	1	0	0	0	0	0	1	0	0	6676	856	30	2	730	2	GPR110	6	46977149	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	33	46977149	124137918	206	2074			2	4		10	9	627	N	C	9.249249e-21
GPR110	266977	broad.mit.edu	37	chr6	46977208	46977208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcagctgtgcagactcCagaagggttcaccgtggtgt	9	8	13	11	1	1	2	1	0	0	2	2	2	2	2	2	2	3	4	2	2	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977208C>T	ENST00000371253.2	-	11	2178	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.G458R	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	655					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GTGCAGACTCCAGAAGGGTTC	0.498													7	33					0	0	0	0	T	46977208	C	T	46977208	3	4	8	1	0	0	0	0	1	0	0	0	6676	603	21	4	789	4	GPR110	6	46977208	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	59	46977208	124137859	207	2075			2	4		10	9	627	N	C	9.249249e-21
GPR110	266977	broad.mit.edu	37	chr6	46977266	46977266	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaaccagacatcagcaatCaagagggacagggctatgtt	16	7	10	8	0	2	2	2	0	0	2	2	3	2	3	1	2	2	3	1	2	5	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977266C>G	ENST00000371253.2	-	11	2120	c.1905G>C	c.(1903-1905)ttG>ttC	p.L635F	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.L438F	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	635					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CATCAGCAATCAAGAGGGACA	0.468													8	40					0	0	0	0	G	46977266	C	G	46977266	3	3	8	1	0	0	0	0	1	0	0	0	6676	825	29	2	847	2	GPR110	6	46977266	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	58	46977266	124137801	208	2076			2	4		10	9	627	N	C	9.249249e-21
GPR110	266977	broad.mit.edu	37	chr6	46977332	46977332	+	Missense_Mutation	SNP	C	C	A																															gaggtttggctttttttaatCtgcttccaaaacaaagcctc																										TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977332C>A	ENST00000371253.2	-	11	2054	c.1839G>T	c.(1837-1839)caG>caT	p.Q613H	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.Q416H	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	613					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTTTTTTAATCTGCTTCCAAA	0.443													10	50					3.86212e-05	3.95591e-05	1	0	A	46977332	C	A	46977332	3	1	8	1	0	0	0	0	1	0	0	0	6676	912	32	2	913	2	GPR110	6	46977332	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	66	46977332	124137735	209	2077	30	2	2	4		10	9	627	N	C	9.249249e-21
GPR110	266977	broad.mit.edu	37	chr6	46977338	46977338	+	Nonsense_Mutation	SNP	C	C	T																															tggctttttttaatctgcttCcaaaacaaagcctcgatgat																										TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977338C>T	ENST00000371253.2	-	11	2048	c.1833G>A	c.(1831-1833)tgG>tgA	p.W611*	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Nonsense_Mutation_p.W414*	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	611					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TAATCTGCTTCCAAAACAAAG	0.438													12	53					0	0	0	0	T	46977338	C	T	46977338	4	4	8	1	0	0	0	0	0	1	0	0	6676	856	30	2	919	2	GPR110	6	46977338	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	6	46977338	124137729	210	2078	30	2	2	4		10	9	627	N	C	9.249249e-21
GPR110	266977	broad.mit.edu	37	chr6	46977410	46977410	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagtcccacataggtgatCcattttacaacggggaagat	12	9	9	11	1	0	2	0	1	0	1	2	3	2	3	3	3	2	0	3	3	4	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977410C>A	ENST00000371253.2	-	11	1976	c.1761G>T	c.(1759-1761)tgG>tgT	p.W587C	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.W390C	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	587					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CATAGGTGATCCATTTTACAA	0.433													18	91					5.26018e-13	5.59577e-13	1	0	A	46977410	C	A	46977410	3	1	8	1	0	0	0	0	1	0	0	0	6676	856	30	2	991	2	GPR110	6	46977410	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	72	46977410	124137657	211	2079			2	4		10	9	627	N	C	9.249249e-21
GPR110	266977	broad.mit.edu	37	chr6	46977535	46977535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactaggtggcagcctgcatCgttccactgcaaatgactga	10	9	10	12	1	0	2	0	2	0	0	2	2	1	2	2	2	3	4	2	2	2	2	rs112946460		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977535C>T	ENST00000371253.2	-	11	1851	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.D349N	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	546	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAgcctgcatcgttccactgc	0.433													13	43					0	0	0	0	T	46977535	C	T	46977535	3	4	8	1	0	0	0	0	1	0	0	0	6676	884	31	1	1116	1	GPR110	6	46977535	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	125	46977535	124137532	212	2080			2	4		10	9	627	N	C	9.249249e-21
GPR110	266977	broad.mit.edu	37	chr6	46977656	46977656	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgaataaccgtggatatCacaggtccattgacctgagc	11	12	9	9	1	1	3	1	3	0	0	2	4	2	4	3	2	2	0	3	2	3	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977656C>G	ENST00000371253.2	-	11	1730	c.1515G>C	c.(1513-1515)gtG>gtC	p.V505V	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.V308V	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	505					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCGTGGATATCACAGGTCCAT	0.408													20	82					0	0	0	0	G	46977656	C	G	46977656	2	3	8	1	0	0	0	0	0	0	0	1	6676	813	29	2		2	GPR110	6	46977656	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	121	46977656	124137411	213	2081			2	4		10	9	627	N	C	9.249249e-21
GPR110	266977	broad.mit.edu	37	chr6	46977742	46977742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccatgctgataatagtttCtggaagggatctctggaatt	10	13	12	6	0	2	1	0	1	2	0	3	4	2	4	1	4	1	2	1	4	4	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977742C>T	ENST00000371253.2	-	11	1644	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.E280K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	477					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATAATAGTTTCTGGAAGGGAT	0.443													22	77					0	0	0	0	T	46977742	C	T	46977742	3	4	8	1	0	0	0	0	1	0	0	0	6676	922	32	2	1323	2	GPR110	6	46977742	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	86	46977742	124137325	214	2082			2	4		10	9	627	N	C	9.249249e-21
CRISP3	10321	broad.mit.edu	37	chr6	49698947	49698947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcataagggacatatagtCtattagcccaattaccactg	13	12	7	9	0	2	0	1	0	1	0	2	1	2	1	2	1	2	1	2	1	7	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:49698947C>T	ENST00000433368.2	-	7	677	c.608G>A	c.(607-609)aGa>aAa	p.R203K	CRISP3_ENST00000371159.4_Missense_Mutation_p.R211K|CRISP3_ENST00000393666.1_Missense_Mutation_p.R180K|CRISP3_ENST00000423399.2_Missense_Mutation_p.R90K|CRISP3_ENST00000263045.4_Missense_Mutation_p.R193K	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	180					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GACATATAGTCTATTAGCCCA	0.333													17	54					0	0	0	0	T	49698947	C	T	49698947	3	4	8	1	0	0	0	0	1	0	0	0	3911	913	32	2	206	2	CRISP3	6	49698947	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2721205	49698947	121416120	215	2083											
SENP6	26054	broad.mit.edu	37	chr6	76407199	76407199	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccggcacgtagatatttttGagaaggattttatttttgta	10	17	9	5	2	0	2	0	1	0	2	0	4	0	3	1	2	0	3	1	2	5	9			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:76407199G>C	ENST00000370014.3	+	18	2873	c.2254G>C	c.(2254-2256)Gag>Cag	p.E752Q	SENP6_ENST00000541192.1_Missense_Mutation_p.E348Q|SENP6_ENST00000370010.2_Missense_Mutation_p.E745Q|SENP6_ENST00000447266.2_Missense_Mutation_p.E752Q	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	752	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGATATTTTTGAGAAGGATTT	0.303													10	25					0	0	0	0	C	76407199	G	C	76407199	3	2	8	1	0	0	0	0	1	0	0	0	14137	1291	45	2	2324	2	SENP6	6	76407199	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	26708252	76407199	94707868	216	2084											
TCF21	6943	broad.mit.edu	37	chr6	134212923	134212923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgcgagccgcttatgtGgaaccaccgcgtcctgacct	7	8	11	15	5	0	2	0	2	0	0	1	4	1	3	6	1	2	1	6	1	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:134212923G>A	ENST00000367882.4	+	2	783	c.523G>A	c.(523-525)Gga>Aga	p.G175R	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.G175R	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	175					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CCGCTTATGTGGAACCACCGC	0.657													11	34					0	0	0	0	A	134212923	G	A	134212923	3	1	8	1	0	0	0	0	1	0	0	0	15785	1349	47	4	529	4	TCF21	6	134212923	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	57805724	134212923	36902144	217	2085											
HECA	51696	broad.mit.edu	37	chr6	139487747	139487747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgaagcggatgcaggacGagaaaaagaagaagtctggc	16	4	16	5	2	1	4	0	1	1	3	1	7	1	6	0	4	2	1	0	4	5	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:139487747G>A	ENST00000367658.2	+	2	883	c.598G>A	c.(598-600)Gag>Aag	p.E200K	RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	200					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GATGCAGGACGAGAAAAAGAA	0.582													37	45					0	0	0	0	A	139487747	G	A	139487747	3	1	8	1	0	0	0	0	1	0	0	0	7088	1059	37	1	604	1	HECA	6	139487747	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	5274824	139487747	31627320	218	2086											
MICALL2	79778	broad.mit.edu	37	chr7	1479682	1479682	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggggcctcccccgccctCggctctgccagggcccgtgg	1	6	15	19	3	1	0	0	0	1	0	3	0	2	0	6	5	1	1	6	5	0	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:1479682C>T	ENST00000297508.7	-	9	2020	c.1845G>A	c.(1843-1845)ccG>ccA	p.P615P	MICALL2_ENST00000405088.4_Silent_p.P403P	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	615						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCCCCGCCCTCGGCTCTGCCA	0.687													28	61					0	0	0	0	T	1479682	C	T	1479682	2	4	8	1	0	0	0	0	0	0	0	1	9643	871	31	1		1	MICALL2	7	1479682	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08		1479682	157658981	219	2087											
GLCCI1	113263	broad.mit.edu	37	chr7	8062158	8062158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagaaaagaggtcacatCagcgttctgcgtcatggggg	10	8	15	8	2	4	2	3	0	1	2	4	2	4	2	0	3	3	2	0	3	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:8062158C>A	ENST00000223145.5	+	3	1212	c.655C>A	c.(655-657)Cag>Aag	p.Q219K	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	219										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GAGGTCACATCAGCGTTCTGC	0.368													7	99					5.18039e-06	5.36754e-06	1	0	A	8062158	C	A	8062158	3	1	8	1	0	0	0	0	1	0	0	0	6482	827	29	2	665	2	GLCCI1	7	8062158	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	6582476	8062158	151076505	220	2088											
DNAH11	8701	broad.mit.edu	37	chr7	21695520	21695520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagacaatcaggatgtttCtgcacacagggcagttggaa	13	9	12	7	0	2	2	1	1	1	1	2	4	2	4	0	3	1	4	0	3	3	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:21695520C>T	ENST00000328843.6	+	29	5061	c.5030C>T	c.(5029-5031)tCt>tTt	p.S1677F	DNAH11_ENST00000409508.3_Missense_Mutation_p.S1672F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1677	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGGATGTTTCTGCACACAGG	0.403									Kartagener syndrome				7	49					0	0	0	0	T	21695520	C	T	21695520	3	4	8	1	0	0	0	0	1	0	0	0	4636	913	32	2	5144	2	DNAH11	7	21695520	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	13633362	21695520	137443143	221	2089											
VPS41	27072	broad.mit.edu	37	chr7	38785177	38785177	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcagaagataaactgtctCttctacaaagtttctctgtt	12	15	5	9	0	4	2	1	0	3	2	6	2	4	2	0	0	2	2	0	0	5	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:38785177C>G	ENST00000310301.4	-	23	2017	c.1963G>C	c.(1963-1965)Gag>Cag	p.E655Q	VPS41_ENST00000395969.2_Missense_Mutation_p.E630Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	655					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TAAACTGTCTCTTCTACAAAG	0.338													45	154					0	0	0	0	G	38785177	C	G	38785177	3	3	8	1	0	0	0	0	1	0	0	0	17306	922	32	2	629	2	VPS41	7	38785177	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	17089657	38785177	120353486	222	2090											
POM121L12	285877	broad.mit.edu	37	chr7	53103800	53103800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgggatcgcgccccctgagCgtcaggagagcccctggaga	7	5	15	14	4	1	3	1	1	0	2	3	6	1	4	4	3	2	0	4	3	0	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:53103800C>T	ENST00000408890.4	+	1	452	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	146										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCCCCTGAGCGTCAGGAGAG	0.711													13	29					0	0	0	0	T	53103800	C	T	53103800	3	4	8	1	0	0	0	0	1	0	0	0	12313	768	27	1	438	1	POM121L12	7	53103800	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	14318623	53103800	106034863	223	2091											
HGF	3082	broad.mit.edu	37	chr7	81334827	81334827	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttatatagagatgtgccactCgtaataggccatcatagttg	12	13	9	7	1	1	1	1	0	0	1	2	2	1	1	2	1	1	2	2	1	6	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:81334827C>G	ENST00000222390.5	-	17	2115	c.1889G>C	c.(1888-1890)cGa>cCa	p.R630P	HGF_ENST00000457544.2_Missense_Mutation_p.R625P	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	630	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATGTGCCACTCGTAATAGGCC	0.368													8	53					0	0	0	0	G	81334827	C	G	81334827	3	3	8	1	0	0	0	0	1	0	0	0	7135	884	31	3	305	3	HGF	7	81334827	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	28231027	81334827	77803836	224	2092											
PCLO	27445	broad.mit.edu	37	chr7	82583504	82583504	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatgatcagcactagctctAccatctggtggggcagtccg	9	10	11	11	1	3	1	1	1	2	0	4	1	4	1	2	3	3	3	2	3	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:82583504A>C	ENST00000423517.2	-	5	7102	c.6765T>G	c.(6763-6765)ggT>ggG	p.G2255G	PCLO_ENST00000333891.8_Silent_p.G2255G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2186					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTAGCTCTACCATCTGGTG	0.393													9	76					0	0	0	0	C	82583504	A	C	82583504	2	2	8	1	0	0	0	0	0	0	0	1	11654	378	14	5		5	PCLO	7	82583504	Silent	SNP	A	TCGA-BA-5152-01A-02D-1870-08	1248677	82583504	76555159	225	2093											
ABCB4	5244	broad.mit.edu	37	chr7	87072722	87072722	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccaaccagggccaccgtCtgcccactctgcaccttcag	7	8	7	19	1	3	0	1	0	2	0	4	0	4	0	6	1	3	1	6	1	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:87072722C>T	ENST00000265723.4	-	12	1380	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	ABCB4_ENST00000453593.1_Silent_p.Q423Q|ABCB4_ENST00000359206.3_Silent_p.Q423Q|ABCB4_ENST00000358400.3_Silent_p.Q423Q|ABCB4_ENST00000545634.1_Silent_p.Q423Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	423	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GGGCCACCGTCTGCCCACTCT	0.493													10	84					0	0	0	0	T	87072722	C	T	87072722	2	4	8	1	0	0	0	0	0	0	0	1	43	912	32	2		2	ABCB4	7	87072722	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	4489218	87072722	72065941	226	2094											
DYNC1I1	1780	broad.mit.edu	37	chr7	95434085	95434085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgagctagagcgcaaaaAgcagcgcttagcacagataa	16	5	11	9	2	0	3	0	1	0	2	0	3	0	3	0	0	6	6	0	0	5	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:95434085A>G	ENST00000324972.6	+	2	237	c.44A>G	c.(43-45)aAg>aGg	p.K15R	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.K15R|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.K15R|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.K15R|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.K15R|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.K15R|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.K15R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	15	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GAGCGCAAAAAGCAGCGCTTA	0.393													3	5					0	0	0	0	G	95434085	A	G	95434085	3	3	8	1	0	0	0	0	1	0	0	0	4878	72	3	5	46	5	DYNC1I1	7	95434085	Missense_Mutation	SNP	A	TCGA-BA-5152-01A-02D-1870-08	8361363	95434085	63704578	227	2095											
ZAN	7455	broad.mit.edu	37	chr7	100350144	100350144	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagcccaccacccccactGaggagaccaccatctccaca	13	3	6	19	0	1	3	0	1	1	2	2	4	1	3	7	1	1	0	7	1	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:100350144G>A	ENST00000542585.1	+	0	2564				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCCCCACTGAGGAGACCAC	0.527													9	74					0	0	0	0	A	100350144	G	A	100350144	1	1	8	0	1	0	0	0	0	0	0	0	17609	1291	45	2		2	ZAN	7	100350144	RNA	SNP	G	TCGA-BA-5152-01A-02D-1870-08	4916059	100350144	58788519	228	2096											
CUX1	1523	broad.mit.edu	37	chr7	101813790	101813790	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctctcatcggccaatcactCcctccagctggcctcacaga	8	8	7	18	1	3	1	3	0	1	1	7	1	5	1	4	2	1	2	4	2	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:101813790C>G	ENST00000360264.3	+	10	841	c.821C>G	c.(820-822)tCc>tGc	p.S274C	CUX1_ENST00000437600.4_Missense_Mutation_p.S274C|CUX1_ENST00000425244.2_Missense_Mutation_p.S228C|CUX1_ENST00000547394.2_Missense_Mutation_p.S258C|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000393824.3_Missense_Mutation_p.S237C|CUX1_ENST00000546411.2_Missense_Mutation_p.S263C|CUX1_ENST00000292535.7_Missense_Mutation_p.S263C|CUX1_ENST00000292538.4_Missense_Mutation_p.S274C|CUX1_ENST00000556210.1_Missense_Mutation_p.S263C|CUX1_ENST00000550008.2_Missense_Mutation_p.S263C|CUX1_ENST00000549414.2_Missense_Mutation_p.S263C	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	263					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCAATCACTCCCTCCAGCTG	0.602													2	7					0	0	0	0	G	101813790	C	G	101813790	3	3	8	1	0	0	0	0	1	0	0	0	4096	855	30	2	893	2	CUX1	7	101813790	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1463646	101813790	57324873	229	2097											
ALKBH4	54784	broad.mit.edu	37	chr7	102100194	102100194	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagccctcaaagtcagactCctctgtgcccacggcccagc	8	6	8	19	1	3	1	2	0	1	1	4	1	4	1	5	1	3	0	5	1	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:102100194C>A	ENST00000292566.3	-	2	217	c.178G>T	c.(178-180)Gag>Tag	p.E60*		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	60						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						AAGTCAGACTCCTCTGTGCCC	0.572													13	77					1.49906e-05	1.54429e-05	1	0	A	102100194	C	A	102100194	4	1	8	1	0	0	0	0	0	1	0	0	529	864	30	2	738	2	ALKBH4	7	102100194	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	286404	102100194	57038469	230	2098											
PUS7	54517	broad.mit.edu	37	chr7	105146708	105146708	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcctatttcatgaacaacGaagtcggagtatctgatgaa	13	13	8	7	2	2	3	1	3	1	0	4	5	3	4	1	1	2	1	1	1	6	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:105146708G>A	ENST00000356362.2	-	3	625	c.411C>T	c.(409-411)ttC>ttT	p.F137F	PUS7_ENST00000469408.1_Silent_p.F137F	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	137					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CATGAACAACGAAGTCGGAGT	0.363													7	34					0	0	0	0	A	105146708	G	A	105146708	2	1	8	1	0	0	0	0	0	0	0	1	12915	1049	37	1		1	PUS7	7	105146708	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3046514	105146708	53991955	231	2099											
NAMPT	10135	broad.mit.edu	37	chr7	105893498	105893498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaggtctccttttccttcctCcagtgtaacaaaattccctg	9	14	5	13	0	1	0	0	0	1	0	6	0	5	0	5	1	1	1	5	1	4	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:105893498C>G	ENST00000222553.3	-	10	1637	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	444					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TTTCCTTCCTCCAGTGTAACA	0.408													10	55					0	0	0	0	G	105893498	C	G	105893498	3	3	8	1	0	0	0	0	1	0	0	0	10219	864	30	2	153	2	NAMPT	7	105893498	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	746790	105893498	53245165	232	2100											
FOXP2	93986	broad.mit.edu	37	chr7	114329955	114329955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgacagagagattgaagaaGagcctttatctgaagatctg	15	9	11	6	1	2	7	0	2	2	5	2	9	2	7	1	0	1	0	1	0	4	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:114329955G>A	ENST00000408937.3	+	18	2571	c.2197G>A	c.(2197-2199)Gag>Aag	p.E733K	FOXP2_ENST00000403559.4_Missense_Mutation_p.E725K|FOXP2_ENST00000393494.2_Missense_Mutation_p.E708K|FOXP2_ENST00000393489.3_Missense_Mutation_p.E616K|FOXP2_ENST00000350908.4_Missense_Mutation_p.E708K|FOXP2_ENST00000393498.2_Missense_Mutation_p.E687K|FOXP2_ENST00000393491.3_Missense_Mutation_p.E523K	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	708					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GATTGAAGAAGAGCCTTTATC	0.438													9	60					0	0	0	0	A	114329955	G	A	114329955	3	1	8	1	0	0	0	0	1	0	0	0	6074	943	33	2	2351	2	FOXP2	7	114329955	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	8436457	114329955	44808708	233	2101											
CADPS2	93664	broad.mit.edu	37	chr7	122261717	122261717	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcactgaagaccgcaactCttctatatacatattctcca	13	13	3	12	1	4	2	1	1	3	1	5	2	4	2	2	0	2	1	2	0	6	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:122261717C>G	ENST00000334010.7	-	5	1343	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	CADPS2_ENST00000313070.7_Missense_Mutation_p.E308Q|CADPS2_ENST00000449022.2_Missense_Mutation_p.E308Q|CADPS2_ENST00000412584.2_Missense_Mutation_p.E308Q	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	308					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GACCGCAACTCTTCTATATAC	0.299													9	48					0	0	0	0	G	122261717	C	G	122261717	3	3	8	1	0	0	0	0	1	0	0	0	2596	922	32	2	3116	2	CADPS2	7	122261717	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7931762	122261717	36876946	234	2102											
RBM28	55131	broad.mit.edu	37	chr7	127975631	127975631	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctcagtgctggtatcactCtgagccagttcctctccatc	6	13	7	15	0	4	1	2	1	2	0	8	1	6	1	4	1	2	3	4	1	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:127975631C>G	ENST00000223073.1	-	8	1026	c.912G>C	c.(910-912)caG>caC	p.Q304H	RBM28_ENST00000415472.2_Missense_Mutation_p.Q163H	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	304					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TGGTATCACTCTGAGCCAGTT	0.423													5	37					0	0	0	0	G	127975631	C	G	127975631	3	3	8	1	0	0	0	0	1	0	0	0	13210	912	32	2	1415	2	RBM28	7	127975631	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	5713914	127975631	31163032	235	2103											
NUP205	23165	broad.mit.edu	37	chr7	135289087	135289087	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgttttcttttctttaaaGatacctatatcatggcaata	13	18	4	6	0	3	1	1	0	2	1	3	1	3	1	1	1	1	2	1	1	8	10			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:135289087G>C	ENST00000285968.6	+	19	2728		c.e19-1			NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTTCTTTAAAGATACCTATAT	0.348													7	23					0	0	0	0	C	135289087	G	C	135289087	5	2	8	1	0	0	0	0	0	0	1	0	10830	956	33	2	2776	2	NUP205	7	135289087	Splice_Site	SNP	G	TCGA-BA-5152-01A-02D-1870-08	7313456	135289087	23849576	236	2104											
BRAF	673	broad.mit.edu	37	chr7	140453110	140453110	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagacaactgttcaaactGatgggacccactccatcgag	12	8	8	13	1	1	2	1	1	0	1	4	4	3	3	3	1	2	1	3	1	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:140453110G>C	ENST00000288602.6	-	15	1885	c.1825C>G	c.(1825-1827)Cag>Gag	p.Q609E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	609	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGTTCAAACTGATGGGACCCA	0.393		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	52					0	0	0	0	C	140453110	G	C	140453110	3	2	8	1	0	0	0	0	1	0	0	0	1504	1299	45	2	491	2	BRAF	7	140453110	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	5164023	140453110	18685553	237	2105											
CUL1	8454	broad.mit.edu	37	chr7	148495716	148495716	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaaaccgaacagaagcagGaacaagaaaccacacacaaa	23	1	7	10	1	0	3	0	1	0	2	0	5	0	4	2	1	5	1	2	1	8	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:148495716G>T	ENST00000325222.4	+	20	2362	c.2083G>T	c.(2083-2085)Gaa>Taa	p.E695*	CUL1_ENST00000602748.1_Nonsense_Mutation_p.E695*|CUL1_ENST00000409469.1_Nonsense_Mutation_p.E695*	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	695					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACAGAAGCAGGAACAAGAAAC	0.418													14	72					1.15088e-07	1.20289e-07	1	0	T	148495716	G	T	148495716	4	4	8	1	0	0	0	0	0	1	0	0	4086	1175	41	2	2157	2	CUL1	7	148495716	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	8042606	148495716	10642947	238	2106											
ZNF425	155054	broad.mit.edu	37	chr7	148801943	148801943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accttcatgcccctcttcagGcggaagcaccggtcacactg	8	8	9	16	2	4	0	3	0	1	0	4	1	4	1	4	3	2	1	4	3	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:148801943G>A	ENST00000378061.2	-	4	1152	c.1020C>T	c.(1018-1020)cgC>cgT	p.R340R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	340					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCCTCTTCAGGCGGAAGCACC	0.662													9	38					0	0	0	0	A	148801943	G	A	148801943	2	1	8	1	0	0	0	0	0	0	0	1	17994	1190	42	4		4	ZNF425	7	148801943	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	306227	148801943	10336720	239	2107											
GIMAP6	474344	broad.mit.edu	37	chr7	150327212	150327212	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctcctggggaatttgttCatattcttcttcctccatct	6	19	5	11	0	5	0	1	0	4	0	8	1	7	1	3	2	0	1	3	2	2	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:150327212C>G	ENST00000328902.5	-	2	235	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	GIMAP6_ENST00000493969.1_Missense_Mutation_p.E7Q	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	7							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAATTTGTTCATATTCTTCT	0.428													3	89					0	0	0	0	G	150327212	C	G	150327212	3	3	8	1	0	0	0	0	1	0	0	0	6434	835	29	2	867	2	GIMAP6	7	150327212	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1525269	150327212	8811451	240	2108											
RNF32	140545	broad.mit.edu	37	chr7	156437207	156437207	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttagggtcactcatctaaGaaagataacttggcagtcaa	14	12	8	7	0	4	2	3	0	1	2	4	2	4	2	0	2	1	1	0	2	5	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:156437207G>C	ENST00000392741.2	+	2	118	c.30G>C	c.(28-30)aaG>aaC	p.K10N	RNF32_ENST00000432459.2_Missense_Mutation_p.K10N|RNF32_ENST00000405335.1_Missense_Mutation_p.K10N|RNF32_ENST00000392740.1_Missense_Mutation_p.K10N|RNF32_ENST00000392743.2_Missense_Mutation_p.K10N|RNF32_ENST00000343665.4_Missense_Mutation_p.K10N|RNF32_ENST00000311822.8_Missense_Mutation_p.K10N|RNF32_ENST00000317955.5_Missense_Mutation_p.K10N			Q9H0A6	RNF32_HUMAN	ring finger protein 32	10						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ACTCATCTAAGAAAGATAACT	0.333													5	53					0	0	0	0	C	156437207	G	C	156437207	3	2	8	1	0	0	0	0	1	0	0	0	13573	933	33	2	36	2	RNF32	7	156437207	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	6109995	156437207	2701456	241	2109											
CSMD1	64478	broad.mit.edu	37	chr8	2823375	2823375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtgactgcttccatgaCatagcctgggttacactgat	9	12	11	9	0	0	3	0	3	0	0	1	4	1	4	2	2	3	2	2	2	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:2823375C>A	ENST00000520002.1	-	60	9760	c.9205G>T	c.(9205-9207)Gtc>Ttc	p.V3069F	CSMD1_ENST00000537824.1_Missense_Mutation_p.V3068F|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.V3069F|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3069	Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTCCATGACATAGCCTGGG	0.493													9	6					2.17888e-05	2.2414e-05	1	0	A	2823375	C	A	2823375	3	1	8	1	0	0	0	0	1	0	0	0	3976	478	17	4	1540	4	CSMD1	8	2823375	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08		2823375	143540647	242	2110											
SOX7	83595	broad.mit.edu	37	chr8	10583925	10583925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagtgccgggggagtactCacccctgtcctccttctccc	4	9	11	17	1	2	0	1	0	1	0	5	1	4	1	6	3	2	2	6	3	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:10583925C>G	ENST00000304501.1	-	2	568	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	SOX7_ENST00000554914.1_Missense_Mutation_p.E216Q|SOX7_ENST00000553390.1_Missense_Mutation_p.E216Q	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	164					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGGAGTACTCACCCCTGTCC	0.726													8	15					0	0	0	0	G	10583925	C	G	10583925	3	3	8	1	0	0	0	0	1	0	0	0	15044	835	29	2	680	2	SOX7	8	10583925	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7760550	10583925	135780097	243	2111											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19297418	19297418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaacagtgagatggactctCccatcctgctcaatgcacat	12	9	7	13	0	2	1	1	1	1	1	4	3	3	2	2	1	3	2	2	1	2	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:19297418C>T	ENST00000454498.2	-	6	1889	c.876G>A	c.(874-876)ggG>ggA	p.G292G	CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000522854.1_Silent_p.G292G|CSGALNACT1_ENST00000311540.4_Silent_p.G292G|CSGALNACT1_ENST00000332246.6_Silent_p.G292G|CSGALNACT1_ENST00000544602.1_Silent_p.G292G	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	292					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GATGGACTCTCCCATCCTGCT	0.418													17	36					0	0	0	0	T	19297418	C	T	19297418	2	4	8	1	0	0	0	0	0	0	0	1	3970	842	30	2		2	CSGALNACT1	8	19297418	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	8713493	19297418	127066604	244	2112											
FAM160B2	64760	broad.mit.edu	37	chr8	21960135	21960135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgacgggccaggctcctgggGagcagtgagtaccaagggtg	8	6	18	9	1	0	2	0	2	0	0	1	3	1	3	3	5	2	3	3	5	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:21960135G>A	ENST00000289921.7	+	16	2135	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	697										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GGCTCCTGGGGAGCAGTGAGT	0.622													5	4					0	0	0	0	A	21960135	G	A	21960135	3	1	8	1	0	0	0	0	1	0	0	0	5512	1175	41	2	1950	2	FAM160B2	8	21960135	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2662717	21960135	124403887	245	2113											
ADAM7	8756	broad.mit.edu	37	chr8	24356805	24356805	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctatatctcaaccaattgCccctctcagtgcaatgaaaa	13	11	5	12	0	3	1	2	1	3	0	5	1	3	1	3	0	3	1	3	0	7	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:24356805C>T	ENST00000175238.6	+	17	1982	c.1899C>T	c.(1897-1899)tgC>tgT	p.C633C	RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Silent_p.C405C|ADAM7_ENST00000380789.1_Silent_p.C633C	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	633	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAACCAATTGCCCCTCTCAGT	0.348													3	46					0	0	0	0	T	24356805	C	T	24356805	2	4	8	1	0	0	0	0	0	0	0	1	251	747	26	4		4	ADAM7	8	24356805	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2396670	24356805	122007217	246	2114											
EBF2	64641	broad.mit.edu	37	chr8	25708194	25708194	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggcaaaggcactcttctGtttgacagcaggaaaaactg	13	8	12	8	0	2	1	0	1	2	0	2	2	2	2	0	4	2	4	0	4	3	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:25708194G>C	ENST00000520164.1	-	15	2149	c.1612C>G	c.(1612-1614)Cag>Gag	p.Q538E	EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Missense_Mutation_p.Q390E	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	538					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GCACTCTTCTGTTTGACAGCA	0.522													41	70					0	0	0	0	C	25708194	G	C	25708194	3	2	8	1	0	0	0	0	1	0	0	0	4917	1386	48	4	123	4	EBF2	8	25708194	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1351389	25708194	120655828	247	2115											
UBXN8	7993	broad.mit.edu	37	chr8	30608921	30608921	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcctttatcaggaatcaagGattttcttttgctttgtggc	7	19	8	7	0	3	0	2	0	1	0	4	2	4	2	1	3	1	1	1	3	3	8			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:30608921G>A	ENST00000519246.1	+	0	296							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						AGGAATCAAGGATTTTCTTTT	0.353													3	18					0	0	0	0	A	30608921	G	A	30608921	1	1	8	0	1	0	0	0	0	0	0	0	17015	1174	41	2		2	UBXN8	8	30608921	RNA	SNP	G	TCGA-BA-5152-01A-02D-1870-08	4900727	30608921	115755101	248	2116											
PRKDC	5591	broad.mit.edu	37	chr8	48719860	48719860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggaagaggggtaagcttCtcctctattttgctgagaaa	10	13	11	7	0	3	2	0	1	3	2	4	4	3	3	1	3	2	3	1	3	4	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:48719860C>G	ENST00000314191.2	-	70	9638	c.9582G>C	c.(9580-9582)gaG>gaC	p.E3194D	PRKDC_ENST00000338368.3_Missense_Mutation_p.E3194D|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3195	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGGTAAGCTTCTCCTCTATTT	0.423								Non-homologous end-joining					46	127					0	0	0	0	G	48719860	C	G	48719860	3	3	8	1	0	0	0	0	1	0	0	0	12601	912	32	2	2873	2	PRKDC	8	48719860	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	18110939	48719860	97644162	249	2117											
PRKDC	5591	broad.mit.edu	37	chr8	48777319	48777319	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctacttgtgtgacacatGaacccctaagaaaacaagat	15	8	8	10	0	0	4	0	2	0	2	0	4	0	4	3	1	3	0	3	1	6	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:48777319G>T	ENST00000314191.2	-	42	5422	c.5366C>A	c.(5365-5367)tCa>tAa	p.S1789*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S1789*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1790					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTGACACATGAACCCCTAAG	0.443								Non-homologous end-joining					3	14					6.4e-05	6.54608e-05	1	0	T	48777319	G	T	48777319	4	4	8	1	0	0	0	0	0	1	0	0	12601	1294	45	2	7201	2	PRKDC	8	48777319	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	57459	48777319	97586703	250	2118											
MCM4	4173	broad.mit.edu	37	chr8	48883280	48883280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctcactgcgtacgtaatGaaagaccctgagacaaggca	13	6	11	11	2	1	3	1	2	0	2	1	4	1	3	2	2	2	3	2	2	4	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:48883280G>A	ENST00000262105.2	+	11	1853	c.1644G>A	c.(1642-1644)atG>atA	p.M548I	MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Missense_Mutation_p.M548I	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	548	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CGTACGTAATGAAAGACCCTG	0.552													14	41					0	0	0	0	A	48883280	G	A	48883280	3	1	8	1	0	0	0	0	1	0	0	0	9458	1290	45	2	1686	2	MCM4	8	48883280	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	105961	48883280	97480742	251	2119											
PXDNL	137902	broad.mit.edu	37	chr8	52284541	52284541	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacatcagcctgcacttgctGaatgctgtcaccattgtcac	9	11	8	13	0	3	1	3	1	0	0	3	2	3	1	2	0	4	3	2	0	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:52284541G>A	ENST00000356297.4	-	19	3893	c.3793C>T	c.(3793-3795)Cag>Tag	p.Q1265*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.Q1265*	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1265					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGCACTTGCTGAATGCTGTCA	0.532													5	26					0	0	0	0	A	52284541	G	A	52284541	4	1	8	1	0	0	0	0	0	1	0	0	12930	1299	45	2	618	2	PXDNL	8	52284541	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3401261	52284541	94079481	252	2120											
MYBL1	4603	broad.mit.edu	37	chr8	67504755	67504755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttattttcttttccttatCaggatcttcatcaatgaagg	9	19	5	8	0	5	1	3	1	2	0	6	2	6	2	1	2	0	0	1	2	4	8			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:67504755C>T	ENST00000522677.3	-	8	1197	c.787G>A	c.(787-789)Gat>Aat	p.D263N	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.D263N	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	263	Transcriptional activation domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TTTTCCTTATCAGGATCTTCA	0.284													6	89					0	0	0	0	T	67504755	C	T	67504755	3	4	8	1	0	0	0	0	1	0	0	0	10079	826	29	2	1507	2	MYBL1	8	67504755	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	15220214	67504755	78859267	253	2121											
ARFGEF1	10565	broad.mit.edu	37	chr8	68150972	68150972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaataaagtgcttatacctCatgccatgaatttcctaaat	16	13	4	8	0	1	1	1	1	0	0	2	1	2	1	3	0	3	1	3	0	9	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:68150972C>T	ENST00000262215.3	-	21	3525	c.3136G>A	c.(3136-3138)Gag>Aag	p.E1046K	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.E500K	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1046					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCTTATACCTCATGCCATGAA	0.323													24	76					0	0	0	0	T	68150972	C	T	68150972	3	4	8	1	0	0	0	0	1	0	0	0	854	835	29	2	2489	2	ARFGEF1	8	68150972	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	646217	68150972	78213050	254	2122											
ARFGEF1	10565	broad.mit.edu	37	chr8	68165736	68165736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcttttgtttctttcattGatatctttttcccagctatt	5	24	4	8	0	4	1	1	1	3	0	5	1	5	1	1	0	1	3	1	0	2	11			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:68165736G>A	ENST00000262215.3	-	18	3037	c.2648C>T	c.(2647-2649)tCa>tTa	p.S883L	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S337L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	883					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCTTTCATTGATATCTTTTT	0.308													6	62					0	0	0	0	A	68165736	G	A	68165736	3	1	8	1	0	0	0	0	1	0	0	0	854	1294	45	2	2989	2	ARFGEF1	8	68165736	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	14764	68165736	78198286	255	2123											
TERF1	7013	broad.mit.edu	37	chr8	73942628	73942628	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagggtacagtatccttattGaggtgaagtaaattgacgtt	12	13	12	4	1	0	3	0	3	0	0	1	4	1	3	1	2	1	4	1	2	6	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:73942628G>A	ENST00000276603.5	+	7	968	c.945G>A	c.(943-945)ttG>ttA	p.L315L	TERF1_ENST00000276602.6_Intron	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	315	Interaction with RLIM.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			TATCCTTATTGAGGTGAAGTA	0.318													6	28					0	0	0	0	A	73942628	G	A	73942628	2	1	8	1	0	0	0	0	0	0	0	1	15855	1281	45	2		2	TERF1	8	73942628	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	5776892	73942628	72421394	256	2124											
TCEB1	6921	broad.mit.edu	37	chr8	74859029	74859029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatctctctaaaattgacctCattggtttcgttctcagcaa	10	16	5	10	1	4	1	2	1	3	0	7	1	4	1	1	1	1	3	1	1	4	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:74859029C>T	ENST00000518127.1	-	4	267	c.175G>A	c.(175-177)Gag>Aag	p.E59K	TCEB1_ENST00000284811.8_Missense_Mutation_p.E59K|TCEB1_ENST00000519487.1_Missense_Mutation_p.E59K|TCEB1_ENST00000520242.1_Missense_Mutation_p.E59K|TCEB1_ENST00000523815.1_Missense_Mutation_p.E59K|TCEB1_ENST00000520210.1_Missense_Mutation_p.E43K|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000522337.1_Missense_Mutation_p.E59K	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	59					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			AAATTGACCTCATTGGTTTCG	0.383													18	55					0	0	0	0	T	74859029	C	T	74859029	3	4	8	1	0	0	0	0	1	0	0	0	15773	835	29	2	167	2	TCEB1	8	74859029	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	916401	74859029	71504993	257	2125											
JPH1	56704	broad.mit.edu	37	chr8	75227373	75227373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgaagccgttgcgcttgtCgttcttccactcgcccatgt	4	12	10	15	5	1	0	0	0	1	0	4	1	2	0	4	0	2	3	4	0	1	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:75227373C>T	ENST00000342232.4	-	2	902	c.862G>A	c.(862-864)Gac>Aac	p.D288N		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	288					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTGCGCTTGTCGTTCTTCCAC	0.542													50	122					0	0	0	0	T	75227373	C	T	75227373	3	4	8	1	0	0	0	0	1	0	0	0	8013	884	31	1	1139	1	JPH1	8	75227373	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	368344	75227373	71136649	258	2126											
ZFHX4	79776	broad.mit.edu	37	chr8	77617904	77617904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtacctcgtcctcctcggcGactgtttctgatgacacaga	7	11	10	13	3	1	3	0	2	1	1	5	4	3	3	3	2	1	2	3	2	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:77617904G>A	ENST00000521891.2	+	2	2029	c.1581G>A	c.(1579-1581)gcG>gcA	p.A527A	ZFHX4_ENST00000455469.2_Silent_p.A527A|ZFHX4_ENST00000050961.6_Silent_p.A527A|ZFHX4_ENST00000518282.1_Silent_p.A527A|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	527						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCCTCGGCGACTGTTTCTG	0.433										HNSCC(33;0.089)			14	57					0	0	0	0	A	77617904	G	A	77617904	2	1	8	1	0	0	0	0	0	0	0	1	17730	1045	37	1		1	ZFHX4	8	77617904	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2390531	77617904	68746118	259	2127											
TPD52	7163	broad.mit.edu	37	chr8	80976724	80976724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttctttacctttgcaagttCtcttcttagctcttcctgct	4	20	5	12	0	4	0	0	0	4	0	6	0	5	0	2	0	4	5	2	0	3	8			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:80976724C>G	ENST00000379096.5	-	2	238	c.124G>C	c.(124-126)Gaa>Caa	p.E42Q	TPD52_ENST00000520527.1_Missense_Mutation_p.E82Q|TPD52_ENST00000537855.1_Missense_Mutation_p.E82Q|TPD52_ENST00000518937.1_Missense_Mutation_p.E42Q|TPD52_ENST00000379097.3_Missense_Mutation_p.E82Q|TPD52_ENST00000448733.2_Missense_Mutation_p.E82Q|TPD52_ENST00000517427.1_Missense_Mutation_p.E82Q|TPD52_ENST00000519303.2_5'UTR	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	82					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TTTGCAAGTTCTCTTCTTAGC	0.428													43	105					0	0	0	0	G	80976724	C	G	80976724	3	3	8	1	0	0	0	0	1	0	0	0	16492	922	32	2	527	2	TPD52	8	80976724	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3358820	80976724	65387298	260	2128											
RBM12B	389677	broad.mit.edu	37	chr8	94746326	94746326	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctccgggggcgggcgcctGaaatgctctgggggtggccg	3	7	20	11	4	1	1	0	1	1	0	2	1	2	1	3	6	2	2	3	6	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:94746326G>A	ENST00000399300.2	-	3	2526	c.2313C>T	c.(2311-2313)ttC>ttT	p.F771F	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.F651F	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	771							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GCGGGCGCCTGAAATGCTCTG	0.662													25	88					0	0	0	0	A	94746326	G	A	94746326	2	1	8	1	0	0	0	0	0	0	0	1	13196	1281	45	2		2	RBM12B	8	94746326	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	13769602	94746326	51617696	261	2129											
ESRP1	54845	broad.mit.edu	37	chr8	95690463	95690463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctcctacacatttccagctCctgctgcagttattcctaca	8	13	4	16	0	0	0	0	0	0	0	4	0	4	0	5	0	5	4	5	0	3	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:95690463C>T	ENST00000433389.2	+	13	1874	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	ESRP1_ENST00000423620.2_Missense_Mutation_p.P558S|ESRP1_ENST00000454170.2_Missense_Mutation_p.P562S|ESRP1_ENST00000358397.5_Missense_Mutation_p.P558S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	562					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						ATTTCCAGCTCCTGCTGCAGT	0.493													24	81					0	0	0	0	T	95690463	C	T	95690463	3	4	8	1	0	0	0	0	1	0	0	0	5296	855	30	2	1734	2	ESRP1	8	95690463	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	944137	95690463	50673559	262	2130											
NIPAL2	79815	broad.mit.edu	37	chr8	99215352	99215352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacctgcaatgatggcactGattgtaaagaaaatatgatt	15	12	8	6	0	1	4	1	3	0	1	1	4	1	4	1	1	1	3	1	1	6	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:99215352G>C	ENST00000341166.3	-	8	1119	c.864C>G	c.(862-864)atC>atG	p.I288M	NIPAL2_ENST00000430223.2_Missense_Mutation_p.I288M|NIPAL2_ENST00000520545.1_5'UTR	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	288						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						TGATGGCACTGATTGTAAAGA	0.398													23	38					0	0	0	0	C	99215352	G	C	99215352	3	2	8	1	0	0	0	0	1	0	0	0	10495	1280	45	2	262	2	NIPAL2	8	99215352	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3524889	99215352	47148670	263	2131											
VPS13B	157680	broad.mit.edu	37	chr8	100654378	100654378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagttcattaaatctcccaGaagttgattcagatgttgct	12	14	8	7	0	3	4	2	1	1	3	4	4	3	4	1	0	1	4	1	0	3	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:100654378G>A	ENST00000358544.2	+	34	5746	c.5635G>A	c.(5635-5637)Gaa>Aaa	p.E1879K	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E1854K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1879					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAATCTCCCAGAAGTTGATTC	0.388													20	189					0	0	0	0	A	100654378	G	A	100654378	3	1	8	1	0	0	0	0	1	0	0	0	17286	943	33	2	5959	2	VPS13B	8	100654378	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1439026	100654378	45709644	264	2132											
VPS13B	157680	broad.mit.edu	37	chr8	100844830	100844830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccagagtttcccagacaGagtgtggcagtacccctcgg	10	7	12	12	1	0	4	0	0	0	4	2	4	1	4	4	2	1	3	4	2	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:100844830G>C	ENST00000358544.2	+	52	9750	c.9639G>C	c.(9637-9639)caG>caC	p.Q3213H	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q3188H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3213					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCCAGACAGAGTGTGGCAG	0.473													23	104					0	0	0	0	C	100844830	G	C	100844830	3	2	8	1	0	0	0	0	1	0	0	0	17286	933	33	2	10035	2	VPS13B	8	100844830	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	190452	100844830	45519192	265	2133											
YWHAZ	7534	broad.mit.edu	37	chr8	101936232	101936232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagcgtgctgtctttgtatGactcttcacttaatgtatca	8	18	7	8	1	4	1	2	1	2	0	4	1	4	1	0	0	2	3	0	0	4	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:101936232G>A	ENST00000395957.2	-	6	970	c.629C>T	c.(628-630)tCa>tTa	p.S210L	YWHAZ_ENST00000457309.1_Missense_Mutation_p.S210L|YWHAZ_ENST00000395951.3_Missense_Mutation_p.S210L|YWHAZ_ENST00000419477.2_Missense_Mutation_p.S210L|YWHAZ_ENST00000395956.3_Missense_Mutation_p.S210L|YWHAZ_ENST00000395958.2_Missense_Mutation_p.S210L|YWHAZ_ENST00000353245.3_Missense_Mutation_p.S210L|YWHAZ_ENST00000395948.2_Missense_Mutation_p.S133L|YWHAZ_ENST00000521309.1_Missense_Mutation_p.S90L|YWHAZ_ENST00000395953.2_Missense_Mutation_p.S210L|YWHAZ_ENST00000522819.1_Missense_Mutation_p.S90L|YWHAZ_ENST00000522542.1_Missense_Mutation_p.S135L			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	210					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	GTCTTTGTATGACTCTTCACT	0.343													42	159					0	0	0	0	A	101936232	G	A	101936232	3	1	8	1	0	0	0	0	1	0	0	0	17602	1294	45	2	116	2	YWHAZ	8	101936232	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1091402	101936232	44427790	266	2134											
NCALD	83988	broad.mit.edu	37	chr8	102701558	102701558	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaactggccggcactgctCgggtcgcactgcaggaggcg	7	5	16	13	4	0	1	0	0	0	1	2	2	0	2	1	5	3	4	1	5	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:102701558C>T	ENST00000395923.1	-	6	1020	c.561G>A	c.(559-561)ccG>ccA	p.P187P	NCALD_ENST00000519508.2_Silent_p.P187P|NCALD_ENST00000522951.1_Intron|NCALD_ENST00000311028.3_Silent_p.P187P|NCALD_ENST00000521599.1_Silent_p.P187P|NCALD_ENST00000220931.6_Silent_p.P187P	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	187					synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CGGCACTGCTCGGGTCGCACT	0.502													5	27					0	0	0	0	T	102701558	C	T	102701558	2	4	8	1	0	0	0	0	0	0	0	1	10271	871	31	1		1	NCALD	8	102701558	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	765326	102701558	43662464	267	2135											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119940992	119940992	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attacctattccacatttttGagttgattcactgtttccgg	8	18	6	9	1	1	2	1	2	0	0	3	2	3	2	3	1	1	2	3	1	2	8			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:119940992G>C	ENST00000297350.4	-	3	955	c.577C>G	c.(577-579)Caa>Gaa	p.Q193E		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	193					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CCACATTTTTGAGTTGATTCA	0.393													4	200					0	0	0	0	C	119940992	G	C	119940992	3	2	8	1	0	0	0	0	1	0	0	0	16379	1299	45	2	640	2	TNFRSF11B	8	119940992	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	17239434	119940992	26423030	268	2136											
COL14A1	7373	broad.mit.edu	37	chr8	121180418	121180418	+	Frame_Shift_Del	DEL	G	G	-																															agttaaagatttagaaaaaaGaaaggatccaaagcccagag																										TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:121180418delG	ENST00000297848.3	+	5	638	c.368delG	c.(367-369)aafs	p.R123fs	COL14A1_ENST00000309791.4_Frame_Shift_Del_p.R123fs|COL14A1_ENST00000247781.3_Frame_Shift_Del_p.R123fs|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Frame_Shift_Del_p.R123fs	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	123					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTAGAAAAAAGAAAGGATCCA	0.353													69	124	---	---	---	---					-	121180418	G	-	121180418	7	5	8	1	0	1	0	1	0	0	0	0	3701	942	33	0	382	0	COL14A1	8	121180418	Frame_Shift_Del	DEL	G	TCGA-BA-5152-01A-02D-1870-08	1239426	121180418	25183604	269	2137											
SNTB1	6641	broad.mit.edu	37	chr8	121823639	121823639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtacagggcttgggtctggtCcgccgccagccccttgaaga	6	8	14	13	2	1	2	0	1	1	1	2	2	2	2	5	3	2	2	5	3	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:121823639C>T	ENST00000395601.3	-	2	859	c.445G>A	c.(445-447)Gac>Aac	p.D149N	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.D149N	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	149	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGGTCTGGTCCGCCGCCAGC	0.657													22	88					0	0	0	0	T	121823639	C	T	121823639	3	4	8	1	0	0	0	0	1	0	0	0	14960	855	30	2	1199	2	SNTB1	8	121823639	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	643221	121823639	24540383	270	2138											
KLHL38	340359	broad.mit.edu	37	chr8	124664436	124664436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgatctggcatgcaggcgagGactgcaggagggcatcgttg	8	8	17	8	2	1	1	0	1	1	0	2	4	1	3	0	5	2	5	0	5	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:124664436G>A	ENST00000325995.7	-	1	754	c.731C>T	c.(730-732)tCc>tTc	p.S244F	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	244										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGCAGGCGAGGACTGCAGGAG	0.552													19	80					0	0	0	0	A	124664436	G	A	124664436	3	1	8	1	0	0	0	0	1	0	0	0	8442	1174	41	2	1026	2	KLHL38	8	124664436	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2840797	124664436	21699586	271	2139											
FER1L6	654463	broad.mit.edu	37	chr8	125072457	125072457	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaaggcctcccacccgttGagccaccagacatcacccag	10	5	8	18	1	1	2	1	1	0	1	2	2	2	2	6	1	2	2	6	1	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:125072457G>C	ENST00000522917.1	+	23	3117	c.2911G>C	c.(2911-2913)Gag>Cag	p.E971Q	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E971Q|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	971						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCACCCGTTGAGCCACCAGA	0.582													41	119					0	0	0	0	C	125072457	G	C	125072457	3	2	8	1	0	0	0	0	1	0	0	0	5860	1291	45	2	2997	2	FER1L6	8	125072457	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	408021	125072457	21291565	272	2140											
TMEM71	137835	broad.mit.edu	37	chr8	133740154	133740154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagatatgatgtggctggaaGaggaggtgatcacagactct	12	9	15	5	0	2	5	1	2	1	3	2	8	2	7	0	4	0	1	0	4	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:133740154G>A	ENST00000356838.3	-	6	651	c.509C>T	c.(508-510)tCt>tTt	p.S170F	TMEM71_ENST00000523829.1_Missense_Mutation_p.S189F|TMEM71_ENST00000377901.4_Intron	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	189						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GTGGCTGGAAGAGGAGGTGAT	0.478													16	144					0	0	0	0	A	133740154	G	A	133740154	3	1	8	1	0	0	0	0	1	0	0	0	16294	942	33	2	341	2	TMEM71	8	133740154	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	8667697	133740154	12623868	273	2141											
CYP11B2	1585	broad.mit.edu	37	chr8	143993975	143993975	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagcagcatctctgcctCtgccaggcgccgcccgaggc	6	5	12	18	3	2	0	0	0	2	0	3	1	2	0	4	2	5	3	4	2	0	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:143993975C>G	ENST00000323110.2	-	8	1371	c.1369G>C	c.(1369-1371)Gag>Cag	p.E457Q		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	457					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ATCTCTGCCTCTGCCAGGCGC	0.692									Familial Hyperaldosteronism type I				15	69					0	0	0	0	G	143993975	C	G	143993975	3	3	8	1	0	0	0	0	1	0	0	0	4178	922	32	2	150	2	CYP11B2	8	143993975	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	10253821	143993975	2370047	274	2142											
ZNF623	9831	broad.mit.edu	37	chr8	144732148	144732148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcacataggacgacgtcaGacagactcacggtgatggag	13	6	12	10	3	3	3	3	1	0	2	3	6	3	5	0	3	0	0	0	3	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:144732148G>A	ENST00000501748.2	+	1	195	c.106G>A	c.(106-108)Gac>Aac	p.D36N	ZNF623_ENST00000458270.2_5'UTR|ZNF623_ENST00000526926.1_5'UTR	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GACGACGTCAGACAGACTCAC	0.502													41	74					0	0	0	0	A	144732148	G	A	144732148	3	1	8	1	0	0	0	0	1	0	0	0	18142	942	33	2	108	2	ZNF623	8	144732148	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	738173	144732148	1631874	275	2143											
EPPK1	83481	broad.mit.edu	37	chr8	144941431	144941431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgcctccgccttctcgatGagctgcttctgcatggcctg	4	12	11	14	2	2	1	0	1	2	0	4	2	3	1	4	1	4	3	4	1	0	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:144941431G>A	ENST00000525985.1	-	2	6062	c.5991C>T	c.(5989-5991)ctC>ctT	p.L1997L				P58107	EPIPL_HUMAN	epiplakin 1	1997						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTTCTCGATGAGCTGCTTCT	0.647													11	30					0	0	0	0	A	144941431	G	A	144941431	2	1	8	1	0	0	0	0	0	0	0	1	5228	1277	45	2		2	EPPK1	8	144941431	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	209283	144941431	1422591	276	2144											
ZNF16	7564	broad.mit.edu	37	chr8	146157135	146157135	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactgcacacatacggtttCtccccagaatggattctttg	9	13	7	12	1	3	1	1	0	2	1	4	2	3	2	2	2	2	2	2	2	2	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:146157135C>T	ENST00000276816.4	-	4	1224	c.1038G>A	c.(1036-1038)gaG>gaA	p.E346E	ZNF16_ENST00000394909.2_Silent_p.E346E	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CATACGGTTTCTCCCCAGAAT	0.488													15	81					0	0	0	0	T	146157135	C	T	146157135	2	4	8	1	0	0	0	0	0	0	0	1	17833	912	32	2		2	ZNF16	8	146157135	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1215704	146157135	206887	277	2145											
CNTLN	54875	broad.mit.edu	37	chr9	17143343	17143343	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaggttacaaacccagatCtcacacaagtggtcagtttg	12	10	8	11	0	2	1	2	0	1	1	4	1	3	1	2	2	2	2	2	2	3	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:17143343C>G	ENST00000380647.3	+	2	502	c.418C>G	c.(418-420)Ctc>Gtc	p.L140V	CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000380641.4_Missense_Mutation_p.L140V|CNTLN_ENST00000262360.5_Missense_Mutation_p.L140V|CNTLN_ENST00000425824.1_Missense_Mutation_p.L140V			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	140						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAACCCAGATCTCACACAAGT	0.348													5	178					0	0	0	0	G	17143343	C	G	17143343	3	3	8	1	0	0	0	0	1	0	0	0	3669	913	32	2	424	2	CNTLN	9	17143343	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08		17143343	124070088	278	2146											
CDKN2A	1029	broad.mit.edu	37	chr9	21968242	21968242	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctttcaatcggggatgtCtgcagagggcagaaagaaaa	13	9	13	6	1	3	3	1	0	2	3	4	4	3	4	0	3	1	3	0	3	4	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:21968242C>T	ENST00000579755.1	-	3	793		c.e3-1		CDKN2A_ENST00000494262.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(6)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGGGATGTCTGCAGAGGGC	0.542		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			30	29					0	0	0	0	T	21968242	C	T	21968242	5	4	8	1	0	0	0	0	0	0	1	0	3190	927	32	2	17	2	CDKN2A	9	21968242	Splice_Site	SNP	C	TCGA-BA-5152-01A-02D-1870-08	4824899	21968242	119245189	279	2147											
KIF24	347240	broad.mit.edu	37	chr9	34290296	34290296	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagatatctttggcagctaGagcatacaatcctgggttct	11	12	10	8	0	2	2	0	0	2	2	3	3	3	2	1	2	3	4	1	2	5	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:34290296G>A	ENST00000379166.2	-	5	1122	c.1003C>T	c.(1003-1005)Cta>Tta	p.L335L	KIF24_ENST00000402558.2_Silent_p.L335L|KIF24_ENST00000379174.3_Intron|KIF24_ENST00000345050.2_Intron	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	335	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTGGCAGCTAGAGCATACAAT	0.458													60	51					0	0	0	0	A	34290296	G	A	34290296	2	1	8	1	0	0	0	0	0	0	0	1	8343	933	33	2		2	KIF24	9	34290296	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	12322054	34290296	106923135	280	2148											
KIF27	55582	broad.mit.edu	37	chr9	86518637	86518637	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcaatccactattgatttGaatggattctttgaaccgtt	11	15	7	8	1	1	3	0	3	1	0	2	4	2	4	2	1	2	2	2	1	4	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:86518637G>C	ENST00000297814.2	-	4	939	c.796C>G	c.(796-798)Caa>Gaa	p.Q266E	KIF27_ENST00000413982.1_Missense_Mutation_p.Q266E|KIF27_ENST00000334204.2_Missense_Mutation_p.Q266E	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	266	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTATTGATTTGAATGGATTCT	0.428													30	81					0	0	0	0	C	86518637	G	C	86518637	3	2	8	1	0	0	0	0	1	0	0	0	8347	1299	45	2	3469	2	KIF27	9	86518637	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	52228341	86518637	54694794	281	2149											
NTRK2	4915	broad.mit.edu	37	chr9	87482318	87482318	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatccccagtactttggcatCaccaacagtcagctcaagcc	12	8	6	15	0	3	0	3	0	0	0	4	0	4	0	4	1	4	3	4	1	4	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:87482318C>T	ENST00000304053.6	+	14	2088	c.1605C>T	c.(1603-1605)atC>atT	p.I535I	NTRK2_ENST00000376214.1_Silent_p.I535I|NTRK2_ENST00000376208.1_Silent_p.I519I|NTRK2_ENST00000277120.3_Silent_p.I535I|NTRK2_ENST00000323115.4_Silent_p.I519I|NTRK2_ENST00000376213.1_Silent_p.I519I	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	519					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						ACTTTGGCATCACCAACAGTC	0.453										TSP Lung(25;0.17)			35	93					0	0	0	0	T	87482318	C	T	87482318	2	4	8	1	0	0	0	0	0	0	0	1	10778	816	29	2		2	NTRK2	9	87482318	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	963681	87482318	53731113	282	2150											
NOL8	55035	broad.mit.edu	37	chr9	95077643	95077643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtagtttaatacagtgatCagaaagctcacagttttctc	12	15	7	7	0	3	2	2	1	1	1	4	2	3	2	0	0	2	4	0	0	4	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:95077643C>T	ENST00000545558.1	-	7	1756	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	NOL8_ENST00000542053.1_Missense_Mutation_p.D354N|NOL8_ENST00000535387.1_Missense_Mutation_p.D422N|NOL8_ENST00000442668.2_Missense_Mutation_p.D422N|NOL8_ENST00000358855.4_Missense_Mutation_p.D354N			Q76FK4	NOL8_HUMAN	nucleolar protein 8	422					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ATACAGTGATCAGAAAGCTCA	0.333													7	30					0	0	0	0	T	95077643	C	T	95077643	3	4	8	1	0	0	0	0	1	0	0	0	10597	826	29	2	2283	2	NOL8	9	95077643	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7595325	95077643	46135788	283	2151											
NOL8	55035	broad.mit.edu	37	chr9	95077919	95077919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttcaaaaggatcactttCagattcatttattgagggtt	13	15	7	6	0	4	2	4	1	0	1	4	3	4	3	0	2	1	1	0	2	4	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:95077919C>T	ENST00000545558.1	-	7	1480	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	NOL8_ENST00000542053.1_Missense_Mutation_p.E262K|NOL8_ENST00000535387.1_Missense_Mutation_p.E330K|NOL8_ENST00000442668.2_Missense_Mutation_p.E330K|NOL8_ENST00000358855.4_Missense_Mutation_p.E262K			Q76FK4	NOL8_HUMAN	nucleolar protein 8	330					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GGATCACTTTCAGATTCATTT	0.353													21	35					0	0	0	0	T	95077919	C	T	95077919	3	4	8	1	0	0	0	0	1	0	0	0	10597	835	29	2	2559	2	NOL8	9	95077919	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	276	95077919	46135512	284	2152											
ZNF484	83744	broad.mit.edu	37	chr9	95610741	95610741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaaaatggaatatgggtCatctcttgtgaagagattaa	14	14	9	4	0	3	2	1	1	2	1	4	4	3	3	0	2	0	0	0	2	6	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:95610741C>T	ENST00000395505.2	-	3	312	c.220G>A	c.(220-222)Gac>Aac	p.D74N	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.D74N|ZNF484_ENST00000375495.3_Missense_Mutation_p.D110N|ZNF484_ENST00000395506.3_Missense_Mutation_p.D112N	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	110	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GAATATGGGTCATCTCTTGTG	0.353													39	110					0	0	0	0	T	95610741	C	T	95610741	3	4	8	1	0	0	0	0	1	0	0	0	18032	826	29	2	2234	2	ZNF484	9	95610741	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	532822	95610741	45602690	285	2153											
GABBR2	9568	broad.mit.edu	37	chr9	101304180	101304180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacctctgaacgtcttgcGtcagcgtgcccacgcgcttc	7	9	10	15	5	3	2	1	1	2	1	4	2	3	2	2	0	5	1	2	0	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:101304180G>A	ENST00000259455.2	-	3	1064	c.605C>T	c.(604-606)aCg>aTg	p.T202M	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	202					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AACGTCTTGCGTCAGCGTGCC	0.532													9	48					0	0	0	0	A	101304180	G	A	101304180	3	1	8	1	0	0	0	0	1	0	0	0	6204	1145	40	1	2288	1	GABBR2	9	101304180	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	5693439	101304180	39909251	286	2154											
GALNT12	79695	broad.mit.edu	37	chr9	101608279	101608279	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttcgagtacacgtcccaGaaagaaatacgctataacac	15	10	6	10	3	0	2	0	0	0	2	2	3	1	2	1	0	3	2	1	0	6	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:101608279G>C	ENST00000375011.3	+	9	1479	c.1479G>C	c.(1477-1479)caG>caC	p.Q493H		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	493	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				ACACGTCCCAGAAAGAAATAC	0.483													11	41					0	0	0	0	C	101608279	G	C	101608279	3	2	8	1	0	0	0	0	1	0	0	0	6259	933	33	2	1513	2	GALNT12	9	101608279	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	304099	101608279	39605152	287	2155											
COL15A1	1306	broad.mit.edu	37	chr9	101763192	101763192	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccccattactgacagcGgctcaggggctggggccttc	6	8	14	13	1	1	2	1	2	0	0	2	2	1	2	3	5	2	2	3	5	1	2	rs137949756		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:101763192G>C	ENST00000375001.3	+	7	1447	c.1024G>C	c.(1024-1026)Ggc>Cgc	p.G342R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	342	Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G342S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TACTGACAGCGGCTCAGGGGC	0.468											OREG0019364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	54					0	0	0	0	C	101763192	G	C	101763192	3	2	8	1	0	0	0	0	1	0	0	0	3702	1116	39	3	1050	3	COL15A1	9	101763192	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	154913	101763192	39450239	288	2156											
OR13C3	138803	broad.mit.edu	37	chr9	107298345	107298345	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaagatggtgtagaggatGaacatataggagaaaaaaat	19	8	12	2	0	0	4	0	1	0	3	0	6	0	5	0	3	2	2	0	3	8	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:107298345G>A	ENST00000374781.2	-	1	792	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	250					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						TGTAGAGGATGAACATATAGG	0.428													37	81					0	0	0	0	A	107298345	G	A	107298345	2	1	8	1	0	0	0	0	0	0	0	1	11006	1281	45	2		2	OR13C3	9	107298345	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	5535153	107298345	33915086	289	2157											
OR13D1	286365	broad.mit.edu	37	chr9	107456838	107456838	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgccatgactgaattctttCtggtggggctttcccaatat	7	15	9	10	0	2	2	0	2	2	0	3	2	3	2	2	3	1	1	2	3	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:107456838C>G	ENST00000318763.5	+	1	179	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TGAATTCTTTCTGGTGGGGCT	0.438													27	69					0	0	0	0	G	107456838	C	G	107456838	3	3	8	1	0	0	0	0	1	0	0	0	11011	912	32	2	138	2	OR13D1	9	107456838	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	158493	107456838	33756593	290	2158											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899402	112899402	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagcccccatcgcagctCtgcacagcccctgcctcttc	6	7	7	21	1	2	0	0	0	2	0	4	0	2	0	5	0	6	4	5	0	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:112899402C>G	ENST00000374530.3	+	8	1758	c.1578C>G	c.(1576-1578)ctC>ctG	p.L526L	AKAP2_ENST00000434623.2_Silent_p.L384L|AKAP2_ENST00000259318.7_Silent_p.L295L|AKAP2_ENST00000374525.1_Silent_p.L384L|AKAP2_ENST00000510514.5_Silent_p.L526L|AKAP2_ENST00000555236.1_Silent_p.L526L|PALM2-AKAP2_ENST00000302798.7_Silent_p.L526L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		295							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CATCGCAGCTCTGCACAGCCC	0.527													10	22					0	0	0	0	G	112899402	C	G	112899402	2	3	8	1	0	0	0	0	0	0	0	1	11481	900	32	2		2	PALM2-AKAP2	9	112899402	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	5442564	112899402	28314029	291	2159											
SUSD1	64420	broad.mit.edu	37	chr9	114875121	114875121	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaggtatcattaaacagtGatacatcattaatctttgtc	14	14	5	8	0	3	1	2	1	1	0	4	1	3	1	0	1	2	1	0	1	5	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:114875121G>C	ENST00000374270.3	-	7	1086	c.914C>G	c.(913-915)tCa>tGa	p.S305*	SUSD1_ENST00000374263.3_Nonsense_Mutation_p.S305*|SUSD1_ENST00000374264.2_Nonsense_Mutation_p.S305*	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	305						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ATTAAACAGTGATACATCATT	0.343													23	52					0	0	0	0	C	114875121	G	C	114875121	4	2	8	1	0	0	0	0	0	1	0	0	15497	1294	45	2	1373	2	SUSD1	9	114875121	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1975719	114875121	26338310	292	2160											
FKBP15	23307	broad.mit.edu	37	chr9	115952852	115952852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacttggctttgactgcatCgggactctaaaaagagagga	13	9	11	8	1	1	2	0	1	1	1	2	5	1	4	0	3	2	2	0	3	4	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:115952852C>T	ENST00000238256.3	-	12	1189	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	358					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTGACTGCATCGGGACTCTAA	0.458													5	6					0	0	0	0	T	115952852	C	T	115952852	3	4	8	1	0	0	0	0	1	0	0	0	5950	884	31	1	2655	1	FKBP15	9	115952852	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1077731	115952852	25260579	293	2161											
TNC	3371	broad.mit.edu	37	chr9	117848518	117848518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtccctggggcattggcgatCccggcagtcttcccctgtgt	3	11	13	14	2	1	0	0	0	1	0	4	1	4	0	4	4	0	2	4	4	0	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:117848518C>T	ENST00000350763.4	-	3	1903	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	TNC_ENST00000341037.4_Missense_Mutation_p.D498N|TNC_ENST00000346706.3_Missense_Mutation_p.D498N|TNC_ENST00000423613.2_Missense_Mutation_p.D498N|TNC_ENST00000542877.1_Missense_Mutation_p.D498N|TNC_ENST00000537320.1_Missense_Mutation_p.D498N|TNC_ENST00000345230.3_Missense_Mutation_p.D498N|TNC_ENST00000535648.1_Missense_Mutation_p.D498N|TNC_ENST00000340094.3_Missense_Mutation_p.D498N	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	498	EGF-like 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CATTGGCGATCCCGGCAGTCT	0.602													43	140					0	0	0	0	T	117848518	C	T	117848518	3	4	8	1	0	0	0	0	1	0	0	0	16364	855	30	2	5217	2	TNC	9	117848518	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1895666	117848518	23364913	294	2162											
TTLL11	158135	broad.mit.edu	37	chr9	124794104	124794104	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggttctcactgctctgctCagagtaattttacgcaccat	9	14	7	11	1	3	1	2	0	2	1	4	1	3	1	1	1	3	5	1	1	2	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:124794104C>T	ENST00000321582.5	-	3	1048	c.861G>A	c.(859-861)ctG>ctA	p.L287L	TTLL11_ENST00000373776.3_Silent_p.L287L|TTLL11_ENST00000474723.1_Intron	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	287	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CTGCTCTGCTCAGAGTAATTT	0.478													32	99					0	0	0	0	T	124794104	C	T	124794104	2	4	8	1	0	0	0	0	0	0	0	1	16820	813	29	2		2	TTLL11	9	124794104	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	6945586	124794104	16419327	295	2163											
RABEPK	10244	broad.mit.edu	37	chr9	127990317	127990317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggggacagattctatgatGacctccactgcattgatata	11	11	10	9	1	1	4	0	3	1	1	2	5	2	5	2	2	1	1	2	2	3	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:127990317G>A	ENST00000373538.3	+	6	965	c.655G>A	c.(655-657)Gac>Aac	p.D219N	RABEPK_ENST00000259460.8_Missense_Mutation_p.D168N|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Missense_Mutation_p.D219N	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	219					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						ATTCTATGATGACCTCCACTG	0.443													13	26					0	0	0	0	A	127990317	G	A	127990317	3	1	8	1	0	0	0	0	1	0	0	0	13045	1290	45	2	673	2	RABEPK	9	127990317	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3196213	127990317	13223114	296	2164											
LRSAM1	90678	broad.mit.edu	37	chr9	130263396	130263396	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctggaggtgcaggcctcaGagtgtgtcgtgtgcctggaa	7	9	17	8	1	1	1	1	0	0	1	2	3	1	3	2	4	3	2	2	4	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:130263396G>C	ENST00000323301.4	+	24	2624	c.2020G>C	c.(2020-2022)Gag>Cag	p.E674Q	LRSAM1_ENST00000300417.6_Missense_Mutation_p.E674Q|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E647Q|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E674Q|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	674					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GCAGGCCTCAGAGTGTGTCGT	0.662													13	35					0	0	0	0	C	130263396	G	C	130263396	3	2	8	1	0	0	0	0	1	0	0	0	9107	943	33	2	2110	2	LRSAM1	9	130263396	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2273079	130263396	10950035	297	2165											
LRRC8A	56262	broad.mit.edu	37	chr9	131671590	131671590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagaacctagccatcaCggccaaccgggtgagtggcc	9	5	11	16	2	1	2	1	1	0	1	2	2	2	2	7	3	3	0	7	3	3	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:131671590C>T	ENST00000259324.5	+	3	2670	c.2147C>T	c.(2146-2148)aCg>aTg	p.T716M	LRRC8A_ENST00000372599.3_Missense_Mutation_p.T716M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T716M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	716					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTAGCCATCACGGCCAACCGG	0.667													29	71					0	0	0	0	T	131671590	C	T	131671590	3	4	8	1	0	0	0	0	1	0	0	0	9085	536	19	1	2149	1	LRRC8A	9	131671590	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1408194	131671590	9541841	298	2166											
RALGDS	5900	broad.mit.edu	37	chr9	135975666	135975666	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgacttactccggtcatctGagagaatctgcagcagctca	10	10	9	12	1	4	3	2	2	2	1	5	4	5	3	1	1	4	3	1	1	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:135975666G>C	ENST00000393160.3	-	17	2746	c.2393C>G	c.(2392-2394)tCa>tGa	p.S798*	RALGDS_ENST00000372047.3_Nonsense_Mutation_p.S841*|RALGDS_ENST00000393157.3_Nonsense_Mutation_p.S852*|RALGDS_ENST00000372062.3_Nonsense_Mutation_p.S824*|RALGDS_ENST00000542690.1_Nonsense_Mutation_p.S924*|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Nonsense_Mutation_p.S853*	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	853	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|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)		CCGGTCATCTGAGAGAATCTG	0.582			T	CIITA	"PMBL, Hodgkin Lymphona, "								79	253					0	0	0	0	C	135975666	G	C	135975666	4	2	8	1	0	0	0	0	0	1	0	0	13098	1294	45	2	194	2	RALGDS	9	135975666	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	4304076	135975666	5237765	299	2167											
C9orf116	138162	broad.mit.edu	37	chr9	138391608	138391608	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcccggcaggtccgcgctCacgcggtagtagtcgctggt	4	8	15	14	6	1	0	1	0	0	0	3	0	2	0	2	4	1	5	2	4	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:138391608C>G	ENST00000371789.3	-	1	756	c.90G>C	c.(88-90)gtG>gtC	p.V30V	C9orf116_ENST00000429260.2_Silent_p.V30V|C9orf116_ENST00000371791.1_Silent_p.V30V			Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	30															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GGTCCGCGCTCACGCGGTAGT	0.697													3	19					0	0	0	0	G	138391608	C	G	138391608	2	3	8	1	0	0	0	0	0	0	0	1	2475	813	29	2		2	C9orf116	9	138391608	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2415942	138391608	2821823	300	2168											
C8G	733	broad.mit.edu	37	chr9	139840549	139840549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccccagcccgagacgcccGaggggctgtgcacgtggttg	5	6	16	14	4	0	1	0	0	0	1	0	3	0	1	4	3	3	3	4	3	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:139840549G>A	ENST00000224181.3	+	4	419	c.359G>A	c.(358-360)cGa>cAa	p.R120Q		NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	120					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		CGAGACGCCCGAGGGGCTGTG	0.642													16	23					0	0	0	0	A	139840549	G	A	139840549	3	1	8	1	0	0	0	0	1	0	0	0	2441	1058	37	1	373	1	C8G	9	139840549	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1448941	139840549	1372882	301	2169											
DIP2C	22982	broad.mit.edu	37	chr10	436786	436786	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttccaagcaagaaacctatCtgctggctccctgcgtcctg	8	10	8	15	1	1	1	0	0	1	1	4	1	4	1	4	1	4	3	4	1	4	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:436786C>G	ENST00000280886.6	-	11	1365	c.1278G>C	c.(1276-1278)caG>caC	p.Q426H	DIP2C_ENST00000381496.3_Missense_Mutation_p.Q319H	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	426						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGAAACCTATCTGCTGGCTCC	0.572													34	121					0	0	0	0	G	436786	C	G	436786	3	3	8	1	0	0	0	0	1	0	0	0	4566	912	32	2	3500	2	DIP2C	10	436786	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08		436786	135097961	302	2170											
NET1	10276	broad.mit.edu	37	chr10	5495245	5495245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccatgttaaagttgtccatCatgtcagaagaggaactcac	13	10	8	10	0	3	2	3	0	0	2	4	3	4	3	2	1	1	2	2	1	4	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:5495245C>T	ENST00000355029.4	+	7	769	c.627C>T	c.(625-627)atC>atT	p.I209I	NET1_ENST00000380359.3_Silent_p.I155I|NET1_ENST00000542715.1_Silent_p.I28I	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	209	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGTTGTCCATCATGTCAGAAG	0.408													49	164					0	0	0	0	T	5495245	C	T	5495245	2	4	8	1	0	0	0	0	0	0	0	1	10408	816	29	2		2	NET1	10	5495245	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	5058459	5495245	130039502	303	2171											
FBXO18	84893	broad.mit.edu	37	chr10	5951160	5951160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctctccgagtgtggatcCcgagagggtgctgtggagtc	5	10	17	9	2	1	1	0	0	1	1	4	5	2	3	2	3	2	2	2	3	0	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:5951160C>T	ENST00000379999.5	+	6	1180	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.P308L|FBXO18_ENST00000379994.1_Missense_Mutation_p.P45L|FBXO18_ENST00000397269.3_5'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	308					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGTGTGGATCCCGAGAGGGTG	0.592													19	67					0	0	0	0	T	5951160	C	T	5951160	3	4	8	1	0	0	0	0	1	0	0	0	5776	623	22	4	1103	4	FBXO18	10	5951160	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	455915	5951160	129583587	304	2172											
ITIH2	3698	broad.mit.edu	37	chr10	7769773	7769773	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctgatcattttggtttctGatggagatccaacagtgggc	8	13	12	8	1	2	3	1	2	1	1	3	4	3	3	1	3	1	2	1	3	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:7769773G>C	ENST00000358415.4	+	11	1427	c.1261G>C	c.(1261-1263)Gat>Cat	p.D421H	ITIH2_ENST00000379587.4_Missense_Mutation_p.D410H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	421	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTGGTTTCTGATGGAGATCC	0.453													15	47					0	0	0	0	C	7769773	G	C	7769773	3	2	8	1	0	0	0	0	1	0	0	0	7957	1290	45	2	1303	2	ITIH2	10	7769773	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1818613	7769773	127764974	305	2173											
CUBN	8029	broad.mit.edu	37	chr10	16957877	16957877	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacagccagaagaattctGaaggttaaagtcttcaaaag	16	10	8	7	0	4	3	2	1	2	2	4	3	4	3	1	1	1	1	1	1	7	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:16957877G>A	ENST00000377833.4	-	46	7218	c.7153C>T	c.(7153-7155)Cag>Tag	p.Q2385*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2385	CUB 17.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGAATTCTGAAGGTTAAAG	0.413													14	94					0	0	0	0	A	16957877	G	A	16957877	4	1	8	1	0	0	0	0	0	1	0	0	4083	1299	45	2	3806	2	CUBN	10	16957877	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	9188104	16957877	118576870	306	2174											
CACNB2	783	broad.mit.edu	37	chr10	18827162	18827162	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgaggatgcctgtgagcaCcttgccgactatctggaggc	7	10	13	11	1	1	2	0	2	1	0	1	5	1	4	3	3	3	1	3	3	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:18827162C>G	ENST00000396576.2	+	12	1692	c.1191C>G	c.(1189-1191)caC>caG	p.H397Q	CACNB2_ENST00000352115.6_Missense_Mutation_p.H428Q|CACNB2_ENST00000282343.8_Missense_Mutation_p.H424Q|CACNB2_ENST00000324631.7_Missense_Mutation_p.H452Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.H404Q|CACNB2_ENST00000377328.1_Missense_Mutation_p.H202Q|CACNB2_ENST00000377329.4_Missense_Mutation_p.H398Q|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.H400Q|CACNB2_ENST00000377319.3_Missense_Mutation_p.H359Q	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	452					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTGTGAGCACCTTGCCGACT	0.552													47	134					0	0	0	0	G	18827162	C	G	18827162	3	3	8	1	0	0	0	0	1	0	0	0	2578	506	18	4	1716	4	CACNB2	10	18827162	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1869285	18827162	116707585	307	2175											
DNAJC1	64215	broad.mit.edu	37	chr10	22208791	22208791	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctgaagcaccgagttttGatacatccacactcttgctg	9	14	7	11	1	2	2	0	2	2	0	3	3	3	2	2	0	3	3	2	0	2	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:22208791G>C	ENST00000376980.3	-	5	895	c.605C>G	c.(604-606)tCa>tGa	p.S202*		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	202					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				ACCGAGTTTTGATACATCCAC	0.299													34	123					0	0	0	0	C	22208791	G	C	22208791	4	2	8	1	0	0	0	0	0	1	0	0	4664	1294	45	2	1091	2	DNAJC1	10	22208791	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3381629	22208791	113325956	308	2176											
MYO3A	53904	broad.mit.edu	37	chr10	26286125	26286125	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taacaacaaaactatccacaGagatgtgaaaggcaataaca	21	6	6	8	0	0	2	0	1	0	1	1	3	1	2	1	1	4	1	1	1	8	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:26286125G>C	ENST00000265944.5	+	6	612	c.446G>C	c.(445-447)aGa>aCa	p.R149T	MYO3A_ENST00000543632.1_Missense_Mutation_p.R149T|MYO3A_ENST00000376301.1_Missense_Mutation_p.R149T|MYO3A_ENST00000376302.1_Missense_Mutation_p.R149T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	149	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACTATCCACAGAGATGTGAAA	0.308													20	61					0	0	0	0	C	26286125	G	C	26286125	3	2	8	1	0	0	0	0	1	0	0	0	10146	942	33	2	460	2	MYO3A	10	26286125	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	4077334	26286125	109248622	309	2177											
KIAA1462	57608	broad.mit.edu	37	chr10	30317643	30317643	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgacgggggtattaagctCtgtggattccaaatggcacc	9	9	12	11	2	1	0	0	0	1	0	2	2	2	1	3	4	1	3	3	4	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:30317643C>G	ENST00000375377.1	-	3	1535	c.1434G>C	c.(1432-1434)caG>caC	p.Q478H		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	478										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTATTAAGCTCTGTGGATTCC	0.572													43	124					0	0	0	0	G	30317643	C	G	30317643	3	3	8	1	0	0	0	0	1	0	0	0	8285	912	32	2	2653	2	KIAA1462	10	30317643	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	4031518	30317643	105217104	310	2178											
CUL2	8453	broad.mit.edu	37	chr10	35327992	35327992	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgacatcgaatttcttcatCttttaatctacctagaacct	11	16	3	11	2	4	1	1	0	3	1	6	3	4	1	2	0	2	0	2	0	5	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:35327992C>G	ENST00000374748.1	-	10	1046	c.733G>C	c.(733-735)Gat>Cat	p.D245H	CUL2_ENST00000374742.1_Missense_Mutation_p.D245H|CUL2_ENST00000602371.1_Missense_Mutation_p.D188H|CUL2_ENST00000374751.3_Missense_Mutation_p.D245H|CUL2_ENST00000374749.3_Missense_Mutation_p.D245H|CUL2_ENST00000537177.1_Missense_Mutation_p.D264H|CUL2_ENST00000374746.1_Missense_Mutation_p.D245H			Q13617	CUL2_HUMAN	cullin 2	245					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ATTTCTTCATCTTTTAATCTA	0.323													10	41					0	0	0	0	G	35327992	C	G	35327992	3	3	8	1	0	0	0	0	1	0	0	0	4087	913	32	2	1556	2	CUL2	10	35327992	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	5010349	35327992	100206755	311	2179											
MAPK8	5599	broad.mit.edu	37	chr10	49618178	49618178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcagatgctgtgtggaatCaagcaccttcattctgctgg	9	13	10	9	0	4	1	3	0	1	1	4	2	4	2	1	2	3	3	1	2	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:49618178C>G	ENST00000374189.1	+	5	598	c.417C>G	c.(415-417)atC>atG	p.I139M	MAPK8_ENST00000360332.3_Missense_Mutation_p.I139M|MAPK8_ENST00000374182.3_Missense_Mutation_p.I139M|MAPK8_ENST00000374174.1_Missense_Mutation_p.I139M|MAPK8_ENST00000395611.3_Missense_Mutation_p.I139M			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	139	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TGTGTGGAATCAAGCACCTTC	0.383													3	145					0	0	0	0	G	49618178	C	G	49618178	3	3	8	1	0	0	0	0	1	0	0	0	9352	816	29	2	431	2	MAPK8	10	49618178	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	14290186	49618178	85916569	312	2180											
PCDH15	65217	broad.mit.edu	37	chr10	55782797	55782797	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatgacgagggtgtactgctCcatctgttgccacaacaaca	12	9	9	11	1	1	1	0	1	1	0	2	2	2	1	2	1	5	3	2	1	4	2	rs146468805		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:55782797C>G	ENST00000373965.2	-	20	2796	c.2402G>C	c.(2401-2403)gGa>gCa	p.G801A	PCDH15_ENST00000395438.1_Missense_Mutation_p.G794A|PCDH15_ENST00000409834.1_Missense_Mutation_p.G405A|PCDH15_ENST00000361849.3_Missense_Mutation_p.G794A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G772A|PCDH15_ENST00000395445.1_Missense_Mutation_p.G801A|PCDH15_ENST00000395430.1_Missense_Mutation_p.G794A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.G794A|PCDH15_ENST00000437009.1_Missense_Mutation_p.G723A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G799A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G757A|PCDH15_ENST00000320301.6_Missense_Mutation_p.G794A	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	794	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGTACTGCTCCATCTGTTGC	0.423										HNSCC(58;0.16)			27	99					0	0	0	0	G	55782797	C	G	55782797	3	3	8	1	0	0	0	0	1	0	0	0	11582	855	30	2	5165	2	PCDH15	10	55782797	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	6164619	55782797	79751950	313	2181											
USP54	159195	broad.mit.edu	37	chr10	75335391	75335391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacactaccacgaccccctGaaaaataatttctcttccaa	14	10	3	14	1	1	1	0	1	1	0	3	2	2	1	4	0	2	1	4	0	6	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:75335391G>A	ENST00000339859.4	-	2	126	c.26C>T	c.(25-27)tCa>tTa	p.S9L	USP54_ENST00000428547.1_Missense_Mutation_p.S9L|USP54_ENST00000408019.1_Missense_Mutation_p.S9L|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.S9L			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	9					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACGACCCCCTGAAAAATAATT	0.448													18	105					0	0	0	0	A	75335391	G	A	75335391	3	1	8	1	0	0	0	0	1	0	0	0	17181	1294	45	2	5116	2	USP54	10	75335391	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	19552594	75335391	60199356	314	2182											
TLL2	7093	broad.mit.edu	37	chr10	98146809	98146809	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgatgctcgcacccgccgtGatctggccaggaacactcat	8	7	11	15	4	2	1	1	1	1	0	3	3	2	2	3	2	2	2	3	2	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:98146809G>C	ENST00000357947.3	-	14	1978	c.1753C>G	c.(1753-1755)Cac>Gac	p.H585D		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	585	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.H585N(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACCCGCCGTGATCTGGCCAG	0.592													18	48					0	0	0	0	C	98146809	G	C	98146809	3	2	8	1	0	0	0	0	1	0	0	0	16040	1290	45	2	1326	2	TLL2	10	98146809	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	22811418	98146809	37387938	315	2183											
PIK3AP1	118788	broad.mit.edu	37	chr10	98362077	98362077	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggcaccctggggggtctctCgagggacatggtgggtgtcc	5	8	18	10	1	1	0	0	0	1	0	4	2	2	1	2	7	0	1	2	7	0	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:98362077C>G	ENST00000339364.5	-	16	2439	c.2320G>C	c.(2320-2322)Gag>Cag	p.E774Q	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.E373Q|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.E596Q	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	774	Pro-rich.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GGGGGTCTCTCGAGGGACATG	0.507													26	40					0	0	0	0	G	98362077	C	G	98362077	3	3	8	1	0	0	0	0	1	0	0	0	11980	893	31	3	105	3	PIK3AP1	10	98362077	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	215268	98362077	37172670	316	2184											
CRTAC1	55118	broad.mit.edu	37	chr10	99655057	99655057	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtagcctgagcccccgtcGatgatcctcaggtgggcccc	6	7	13	15	2	1	2	1	2	0	0	3	3	2	2	6	3	2	1	6	3	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:99655057G>A	ENST00000370597.3	-	11	1786	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	CRTAC1_ENST00000370591.2_Silent_p.I477I|CRTAC1_ENST00000298819.4_Silent_p.I477I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	477						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AGCCCCCGTCGATGATCCTCA	0.632													18	36					0	0	0	0	A	99655057	G	A	99655057	2	1	8	1	0	0	0	0	0	0	0	1	3926	1048	37	1		1	CRTAC1	10	99655057	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1292980	99655057	35879690	317	2185											
POLL	27343	broad.mit.edu	37	chr10	103344383	103344383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacgaggtgacaggcttatgGaagctcttgagggcattgat	10	11	14	6	1	1	3	0	3	1	0	1	5	1	4	0	4	2	3	0	4	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:103344383G>T	ENST00000370162.3	-	5	1361	c.867C>A	c.(865-867)ttC>ttA	p.F289L	POLL_ENST00000456836.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000436284.2_Missense_Mutation_p.S147Y|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.F289L|POLL_ENST00000370172.1_Missense_Mutation_p.F201L|POLL_ENST00000339310.3_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.F289L|POLL_ENST00000370158.3_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	289					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CAGGCTTATGGAAGCTCTTGA	0.562								DNA polymerases (catalytic subunits)					14	51					1.05317e-09	1.10722e-09	1	0	T	103344383	G	T	103344383	3	4	8	1	0	0	0	0	1	0	0	0	12277	1165	41	2	880	2	POLL	10	103344383	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3689326	103344383	32190364	318	2186											
CCDC147	159686	broad.mit.edu	37	chr10	106152107	106152107	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaacctatatgaagctgtGagatcagacagaaatctgta	16	9	9	7	0	2	5	1	2	1	4	2	6	2	5	1	0	2	2	1	0	6	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:106152107G>C	ENST00000369704.3	+	10	1616	c.1482G>C	c.(1480-1482)gtG>gtC	p.V494V		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	494										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATGAAGCTGTGAGATCAGACA	0.299													22	117					0	0	0	0	C	106152107	G	C	106152107	2	2	8	1	0	0	0	0	0	0	0	1	2806	1277	45	2		2	CCDC147	10	106152107	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2807724	106152107	29382640	319	2187											
ADRB1	153	broad.mit.edu	37	chr10	115804636	115804636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtacctgcgggtgttcCgcgaggcccagaagcaggtg	6	8	16	11	4	0	1	0	0	0	1	2	2	1	1	3	3	3	3	3	3	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:115804636C>T	ENST00000369295.2	+	1	831	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	249					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GCGGGTGTTCCGCGAGGCCCA	0.687													10	22					0	0	0	0	T	115804636	C	T	115804636	3	4	8	1	0	0	0	0	1	0	0	0	340	652	23	1	747	1	ADRB1	10	115804636	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	9652529	115804636	19730111	320	2188											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118354333	118354333	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acaggctgccaacaacgtgcGagtggtgggcgcccaggtgg	8	5	17	11	3	0	0	0	0	0	0	0	1	0	0	2	5	4	1	2	5	2	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:118354333G>C	ENST00000528052.1	+	5	493	c.422G>C	c.(421-423)cGa>cCa	p.R141P	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R141P|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R141P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	141					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AACAACGTGCGAGTGGTGGGC	0.592													10	62					0	0	0	0	C	118354333	G	C	118354333	3	2	8	1	0	0	0	0	1	0	0	0	12222	1058	37	3	436	3	PNLIPRP1	10	118354333	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2549697	118354333	17180414	321	2189											
PDZD8	118987	broad.mit.edu	37	chr10	119044202	119044202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgataaagaatttctgatGattcccatgtttgacggtcg	11	14	9	7	3	1	4	0	3	1	1	3	5	2	4	1	1	1	1	1	1	4	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:119044202G>A	ENST00000334464.5	-	5	2281	c.2042C>T	c.(2041-2043)tCa>tTa	p.S681L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	681					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AATTTCTGATGATTCCCATGT	0.413													12	100					0	0	0	0	A	119044202	G	A	119044202	3	1	8	1	0	0	0	0	1	0	0	0	11776	1294	45	2	1426	2	PDZD8	10	119044202	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	689869	119044202	16490545	322	2190											
TACC2	10579	broad.mit.edu	37	chr10	123976183	123976183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagaaacaccaccagtgatCtctgcggtggtccacgccac	10	6	9	16	2	1	2	0	1	1	1	3	2	2	2	5	2	2	0	5	2	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:123976183C>G	ENST00000369005.1	+	11	7726	c.7386C>G	c.(7384-7386)atC>atG	p.I2462M	TACC2_ENST00000515603.1_Missense_Mutation_p.I2417M|TACC2_ENST00000334433.3_Missense_Mutation_p.I2462M|TACC2_ENST00000369001.1_Missense_Mutation_p.I166M|TACC2_ENST00000368999.1_Missense_Mutation_p.I552M|TACC2_ENST00000369004.3_Missense_Mutation_p.I552M|TACC2_ENST00000513429.1_Missense_Mutation_p.I608M|TACC2_ENST00000369000.1_Missense_Mutation_p.I162M|TACC2_ENST00000358010.1_Missense_Mutation_p.I608M|TACC2_ENST00000360561.3_Missense_Mutation_p.I540M|TACC2_ENST00000260733.3_Missense_Mutation_p.I540M|TACC2_ENST00000515273.1_Missense_Mutation_p.I2466M|TACC2_ENST00000453444.2_Missense_Mutation_p.I2466M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2462						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CACCAGTGATCTCTGCGGTGG	0.537													4	101					0	0	0	0	G	123976183	C	G	123976183	3	3	8	1	0	0	0	0	1	0	0	0	15593	903	32	2	7496	2	TACC2	10	123976183	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	4931981	123976183	11558564	323	2191											
DOCK1	1793	broad.mit.edu	37	chr10	129207596	129207596	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatattcagtgcttcacagtGaagcccaaactcgatctgcc	11	10	8	12	1	3	1	2	1	1	0	4	3	3	1	2	0	4	1	2	0	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:129207596G>A	ENST00000280333.6	+	42	4330	c.4221G>A	c.(4219-4221)gtG>gtA	p.V1407V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1407	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCTTCACAGTGAAGCCCAAAC	0.493													12	95					0	0	0	0	A	129207596	G	A	129207596	2	1	8	1	0	0	0	0	0	0	0	1	4720	1277	45	2		2	DOCK1	10	129207596	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	5231413	129207596	6327151	324	2192											
EBF3	253738	broad.mit.edu	37	chr10	131640406	131640406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgttggcttgtgacgtctctGacacgttgacggctagctgg	5	12	14	10	4	1	3	0	3	1	0	2	3	1	3	0	3	1	5	0	3	1	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:131640406G>A	ENST00000368648.3	-	13	1391	c.1319C>T	c.(1318-1320)tCa>tTa	p.S440L	EBF3_ENST00000355311.5_Missense_Mutation_p.S449L	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	449					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGACGTCTCTGACACGTTGAC	0.612													35	92					0	0	0	0	A	131640406	G	A	131640406	3	1	8	1	0	0	0	0	1	0	0	0	4918	1294	45	2	352	2	EBF3	10	131640406	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2432810	131640406	3894341	325	2193											
JAKMIP3	282973	broad.mit.edu	37	chr10	133946815	133946815	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgttctgttctccttgtaGatggaggagataaaatttaa	11	16	10	4	0	2	2	0	0	2	2	3	4	2	3	1	2	0	3	1	2	4	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:133946815G>C	ENST00000298622.4	+	3	771		c.e3-1			NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCTCCTTGTAGATGGAGGAGA	0.537													3	10					0	0	0	0	C	133946815	G	C	133946815	5	2	8	1	0	0	0	0	0	0	1	0	7995	956	33	2	643	2	JAKMIP3	10	133946815	Splice_Site	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2306409	133946815	1587932	326	2194											
PTDSS2	81490	broad.mit.edu	37	chr11	479110	479110	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaggttttggctctgcgtGagtgtggtctacgagctgtt	4	15	16	6	2	2	1	0	1	2	0	2	3	2	2	0	4	3	4	0	4	1	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:479110G>C	ENST00000308020.5	+	4	569	c.393G>C	c.(391-393)gtG>gtC	p.V131V	PTDSS2_ENST00000530087.1_3'UTR	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	131						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GGCTCTGCGTGAGTGTGGTCT	0.567													60	236					0	0	0	0	C	479110	G	C	479110	2	2	8	1	0	0	0	0	0	0	0	1	12816	1277	45	2		2	PTDSS2	11	479110	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08		479110	134527406	327	2195											
PHRF1	57661	broad.mit.edu	37	chr11	605232	605232	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagccctctttggggctgctGagagcggatattggagctgc	6	10	16	9	1	1	1	0	1	1	1	1	5	1	3	1	4	5	3	1	4	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:605232G>A	ENST00000264555.5	+	11	1394	c.1266G>A	c.(1264-1266)ctG>ctA	p.L422L	PHRF1_ENST00000533464.1_Silent_p.L418L|PHRF1_ENST00000413872.2_Silent_p.L421L|PHRF1_ENST00000416188.2_Silent_p.L422L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	422							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGGGGCTGCTGAGAGCGGATA	0.597													33	95					0	0	0	0	A	605232	G	A	605232	2	1	8	1	0	0	0	0	0	0	0	1	11933	1277	45	2		2	PHRF1	11	605232	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	126122	605232	134401284	328	2196											
CTSD	1509	broad.mit.edu	37	chr11	1774844	1774844	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtggcccgctgggtggCgggatgtccatgcccatgaa	7	7	16	11	2	0	2	0	1	0	1	1	3	1	3	3	4	1	1	3	4	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:1774844C>T	ENST00000236671.2	-	9	1260	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	376					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	p.P376P(1)		endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGCTGGGTGGCGGGATGTCCA	0.657													15	71					0	0	0	0	T	1774844	C	T	1774844	2	4	8	1	0	0	0	0	0	0	0	1	4064	755	27	1		1	CTSD	11	1774844	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1169612	1774844	133231672	329	2197											
PHLDA2	7262	broad.mit.edu	37	chr11	2950434	2950434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgcagtccaccttgaggatgGagtggaagcgcagctccttg	8	8	14	11	2	0	1	0	1	0	0	2	4	2	4	3	3	2	3	3	3	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:2950434G>C	ENST00000314222.4	-	1	251	c.161C>G	c.(160-162)tCc>tGc	p.S54C		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	54	PH.				apoptosis	cytoplasm|membrane				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTGAGGATGGAGTGGAAGCG	0.657													8	45					0	0	0	0	C	2950434	G	C	2950434	3	2	8	1	0	0	0	0	1	0	0	0	11921	1174	41	2	301	2	PHLDA2	11	2950434	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1175590	2950434	132056082	330	2198											
DCHS1	8642	broad.mit.edu	37	chr11	6662141	6662141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagggcctgggccctcCgggggggtgaaccaccatca	7	4	15	15	1	1	1	1	1	0	0	2	1	2	1	6	5	2	1	6	5	1	0	rs143767864	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:6662141C>T	ENST00000299441.3	-	2	1115	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGA	0.587													10	145					0	0	0	0	T	6662141	C	T	6662141	3	4	8	1	0	0	0	0	1	0	0	0	4319	652	23	1	9272	1	DCHS1	11	6662141	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3711707	6662141	128344375	331	2199											
SBF2	81846	broad.mit.edu	37	chr11	9875240	9875240	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctctgtatcatagctctCagctacacttcctgcaatac	10	13	4	14	0	3	0	2	0	2	0	6	0	4	0	1	0	5	4	1	0	5	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:9875240C>G	ENST00000256190.8	-	20	2520	c.2383G>C	c.(2383-2385)Gag>Cag	p.E795Q	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	795					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCATAGCTCTCAGCTACACTT	0.373													18	142					0	0	0	0	G	9875240	C	G	9875240	3	3	8	1	0	0	0	0	1	0	0	0	13945	835	29	2	3250	2	SBF2	11	9875240	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3213099	9875240	125131276	332	2200											
MICAL2	9645	broad.mit.edu	37	chr11	12263802	12263802	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcacgtgctcagagagctCaagcaagtgtctgctggcag	9	7	15	10	1	3	1	2	0	1	1	3	2	3	1	0	2	4	6	0	2	2	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:12263802C>G	ENST00000256194.4	+	19	2667	c.2379C>G	c.(2377-2379)ctC>ctG	p.L793L	MICAL2_ENST00000342902.5_Silent_p.L793L|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000379612.3_Intron	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	793						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCAGAGAGCTCAAGCAAGTGT	0.562													10	29					0	0	0	0	G	12263802	C	G	12263802	2	3	8	1	0	0	0	0	0	0	0	1	9639	813	29	2		2	MICAL2	11	12263802	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2388562	12263802	122742714	333	2201											
BTBD10	84280	broad.mit.edu	37	chr11	13427228	13427228	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgaatattcttctcccatCtgtggtggatattcttcatc	7	18	7	9	0	5	1	1	1	4	0	7	2	5	2	1	2	0	0	1	2	3	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:13427228C>T	ENST00000278174.5	-	7	1229	c.984G>A	c.(982-984)caG>caA	p.Q328Q	BTBD10_ENST00000530907.1_Silent_p.Q336Q|BTBD10_ENST00000528120.1_Silent_p.Q280Q	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	328						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CTTCTCCCATCTGTGGTGGAT	0.423													50	147					0	0	0	0	T	13427228	C	T	13427228	2	4	8	1	0	0	0	0	0	0	0	1	1546	912	32	2		2	BTBD10	11	13427228	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1163426	13427228	121579288	334	2202											
COPB1	1315	broad.mit.edu	37	chr11	14520460	14520460	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaacgtgtagcatacgttCtcagccgccgtcatggtttc	8	13	9	11	4	2	0	2	0	1	0	4	0	2	0	2	1	4	4	2	1	3	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:14520460C>G	ENST00000249923.3	-	2	315	c.15G>C	c.(13-15)gaG>gaC	p.E5D	PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000555531.1_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.E5D	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	5					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AGCATACGTTCTCAGCCGCCG	0.343													12	40					0	0	0	0	G	14520460	C	G	14520460	3	3	8	1	0	0	0	0	1	0	0	0	3758	912	32	2	2930	2	COPB1	11	14520460	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1093232	14520460	120486056	335	2203											
NUCB2	4925	broad.mit.edu	37	chr11	17333590	17333590	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttagttggagaaagtatatGaccctaaaaatgaagaggat	17	11	10	3	0	0	4	0	2	0	2	0	6	0	5	1	2	0	2	1	2	8	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:17333590G>C	ENST00000529010.1	+	10	1054	c.835G>C	c.(835-837)Gac>Cac	p.D279H	NUCB2_ENST00000458064.2_Missense_Mutation_p.D279H|NUCB2_ENST00000323688.6_Missense_Mutation_p.D279H	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	279	Binds to necdin (By similarity).					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAAGTATATGACCCTAAAAA	0.299													10	133					0	0	0	0	C	17333590	G	C	17333590	3	2	8	1	0	0	0	0	1	0	0	0	10790	1290	45	2	865	2	NUCB2	11	17333590	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2813130	17333590	117672926	336	2204											
ANO5	203859	broad.mit.edu	37	chr11	22281213	22281213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccacatcactcacaggatCatgcttgaactttattgtca	13	12	5	11	0	4	1	4	1	0	0	4	2	4	2	1	1	3	1	1	1	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:22281213C>T	ENST00000324559.8	+	15	1873	c.1556C>T	c.(1555-1557)tCa>tTa	p.S519L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	519						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCACAGGATCATGCTTGAAC	0.378													20	61					0	0	0	0	T	22281213	C	T	22281213	3	4	8	1	0	0	0	0	1	0	0	0	699	838	29	2	1614	2	ANO5	11	22281213	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	4947623	22281213	112725303	337	2205											
ANO5	203859	broad.mit.edu	37	chr11	22301235	22301235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaattaaaagagaacttggGaattaattctaatgaatttg	18	13	7	3	0	1	2	0	1	1	1	1	4	1	3	0	1	1	0	0	1	8	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:22301235G>T	ENST00000324559.8	+	22	2983	c.2666G>T	c.(2665-2667)gGa>gTa	p.G889V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	889						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGAACTTGGGAATTAATTCT	0.363													7	75					0.00198382	0.00202045	1	0	T	22301235	G	T	22301235	3	4	8	1	0	0	0	0	1	0	0	0	699	1174	41	2	2752	2	ANO5	11	22301235	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	20022	22301235	112705281	338	2206											
LRRC4C	57689	broad.mit.edu	37	chr11	40137420	40137420	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagtatacaaaagctccAttcgggatggtagtaagacg	15	8	11	7	2	0	1	0	0	0	1	2	3	1	2	1	2	2	4	1	2	7	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:40137420A>T	ENST00000278198.2	-	2	2386	c.423T>A	c.(421-423)aaT>aaA	p.N141K	LRRC4C_ENST00000528697.1_Missense_Mutation_p.N141K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N141K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.N141K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	141					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAAAAGCTCCATTCGGGATGG	0.428													20	62					0	0	0	0	T	40137420	A	T	40137420	3	4	8	1	0	0	0	0	1	0	0	0	9072	214	8	5	1503	5	LRRC4C	11	40137420	Missense_Mutation	SNP	A	TCGA-BA-5152-01A-02D-1870-08	17836185	40137420	94869096	339	2207											
PHF21A	51317	broad.mit.edu	37	chr11	45975109	45975109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcccgttttggtttgggtGcagcaggtggggtgatggtg	3	13	18	7	1	0	1	0	1	0	0	1	1	1	1	2	6	2	4	2	6	0	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:45975109G>T	ENST00000257821.4	-	10	1687	c.1064C>A	c.(1063-1065)gCa>gAa	p.A355E	PHF21A_ENST00000418153.2_Missense_Mutation_p.A354E|PHF21A_ENST00000323180.6_Missense_Mutation_p.A355E|PHF21A_ENST00000527753.1_5'UTR	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	354					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGGTTTGGGTGCAGCAGGTGG	0.448													6	51					1.12685e-05	1.16588e-05	1	0	T	45975109	G	T	45975109	3	4	8	1	0	0	0	0	1	0	0	0	11905	1319	46	4	1044	4	PHF21A	11	45975109	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	5837689	45975109	89031407	340	2208											
LRP4	4038	broad.mit.edu	37	chr11	46897369	46897369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcacctcggtgtgggcatCggcccatagcagttgggagc	6	9	14	12	2	1	0	1	0	1	0	4	1	1	1	2	4	2	3	2	4	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:46897369C>T	ENST00000378623.1	-	26	3927	c.3685G>A	c.(3685-3687)Gat>Aat	p.D1229N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1229					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTGTGGGCATCGGCCCATAGC	0.597													8	62					0	0	0	0	T	46897369	C	T	46897369	3	4	8	1	0	0	0	0	1	0	0	0	9023	884	31	1	2084	1	LRP4	11	46897369	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	922260	46897369	88109147	341	2209											
NR1H3	10062	broad.mit.edu	37	chr11	47283391	47283391	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggaagcagggatgaggaGaatcggcctccctggaagag	11	5	17	8	1	0	3	0	1	0	2	2	7	1	6	2	5	1	1	2	5	3	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:47283391G>A	ENST00000481889.2	+	5	1035	c.867G>A	c.(865-867)gaG>gaA	p.E289E	NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000467728.1_Intron|NR1H3_ENST00000441012.2_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	185	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGGATGAGGAGAATCGGCCTC	0.577													21	68					0	0	0	0	A	47283391	G	A	47283391	2	1	8	1	0	0	0	0	0	0	0	1	10689	957	33	2		2	NR1H3	11	47283391	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	386022	47283391	87723125	342	2210											
OR5AP2	338675	broad.mit.edu	37	chr11	56409589	56409589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccaggaaggagccaaaGaagtagaactgggcagcaca	15	3	13	10	0	0	2	0	0	0	2	1	4	1	4	3	3	3	3	3	3	5	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:56409589G>T	ENST00000544374.1	-	1	358	c.330C>A	c.(328-330)ttC>ttA	p.F110L	OR5AP2_ENST00000302981.1_Missense_Mutation_p.F109L			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AGGAGCCAAAGAAGTAGAACT	0.512													17	41					0.006122	0.0062086	1	0	T	56409589	G	T	56409589	3	4	8	1	0	0	0	0	1	0	0	0	11215	933	33	2	627	2	OR5AP2	11	56409589	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	9126198	56409589	78596927	343	2211											
RTN4RL2	349667	broad.mit.edu	37	chr11	57235099	57235099	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcccgcctcggcctgcCtcctgctgatgctcctggcc	2	9	10	20	2	0	1	0	1	0	0	4	1	3	1	7	2	4	3	7	2	0	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:57235099C>G	ENST00000335099.3	+	2	366	c.49C>G	c.(49-51)Ctc>Gtc	p.L17V	RTN4RL2_ENST00000533205.1_Missense_Mutation_p.L17V|RTN4RL2_ENST00000395120.2_Missense_Mutation_p.L17V	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	17					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCGGCCTGCCTCCTGCTGAT	0.677													32	105					0	0	0	0	G	57235099	C	G	57235099	3	3	8	1	0	0	0	0	1	0	0	0	13817	681	24	4	55	4	RTN4RL2	11	57235099	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	825510	57235099	77771417	344	2212											
OR5A1	219982	broad.mit.edu	37	chr11	59211187	59211187	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatcaaccacttcttctgCgacctcccaccagtcctggc	8	10	5	18	1	4	0	2	0	2	0	6	1	6	0	5	1	2	0	5	1	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:59211187C>T	ENST00000302030.2	+	1	571	c.546C>T	c.(544-546)tgC>tgT	p.C182C		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACTTCTTCTGCGACCTCCCAC	0.537													73	251					0	0	0	0	T	59211187	C	T	59211187	2	4	8	1	0	0	0	0	0	0	0	1	11210	776	27	1		1	OR5A1	11	59211187	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1976088	59211187	75795329	345	2213											
MS4A7	58475	broad.mit.edu	37	chr11	60156975	60156975	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcctctcaacattgtggctCagaaatggattatctatcct	10	14	7	10	0	3	1	2	0	2	1	5	2	4	2	2	2	2	1	2	2	4	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:60156975C>G	ENST00000358246.1	+	4	510	c.317C>G	c.(316-318)tCa>tGa	p.S106*	MS4A7_ENST00000534016.1_Nonsense_Mutation_p.S106*|MS4A7_ENST00000530234.2_Intron|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Nonsense_Mutation_p.S151*	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	151						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CATTGTGGCTCAGAAATGGAT	0.443													18	76					0	0	0	0	G	60156975	C	G	60156975	4	3	8	1	0	0	0	0	0	1	0	0	9936	838	29	2	466	2	MS4A7	11	60156975	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	945788	60156975	74849541	346	2214											
AHNAK	79026	broad.mit.edu	37	chr11	62286867	62286867	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacactaatttcaggagtctCaaggttcagctctgcctcag	11	11	8	11	0	5	0	4	0	2	0	6	1	5	1	1	2	3	2	1	2	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:62286867C>G	ENST00000378024.4	-	5	15296	c.15022G>C	c.(15022-15024)Gag>Cag	p.E5008Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5008					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGAGTCTCAAGGTTCAGC	0.423													58	147					0	0	0	0	G	62286867	C	G	62286867	3	3	8	1	0	0	0	0	1	0	0	0	414	835	29	2	2770	2	AHNAK	11	62286867	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2129892	62286867	72719649	347	2215											
MACROD1	28992	broad.mit.edu	37	chr11	63767135	63767135	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagcggagccggtgctcCagcagcaggtccagactgct	8	5	14	14	3	0	1	0	0	0	1	2	3	2	2	4	3	6	4	4	3	0	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:63767135C>T	ENST00000255681.6	-	6	831	c.765G>A	c.(763-765)ctG>ctA	p.L255L	OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	255	Macro.									breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GCCGGTGCTCCAGCAGCAGGT	0.716													4	22					0	0	0	0	T	63767135	C	T	63767135	2	4	8	1	0	0	0	0	0	0	0	1	9210	581	21	4		4	MACROD1	11	63767135	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1480268	63767135	71239381	348	2216											
FERMT3	83706	broad.mit.edu	37	chr11	63974990	63974990	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctgaagattgtggagCagatcagtgagtgtccgctg	8	11	14	8	1	1	4	1	2	0	2	3	5	3	5	2	1	2	3	2	1	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:63974990C>G	ENST00000279227.5	+	2	249	c.154C>G	c.(154-156)Cag>Gag	p.Q52E	FERMT3_ENST00000345728.5_Missense_Mutation_p.Q52E	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	52					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GATTGTGGAGCAGATCAGTGA	0.667													11	61					0	0	0	0	G	63974990	C	G	63974990	3	3	8	1	0	0	0	0	1	0	0	0	5864	711	25	4	156	4	FERMT3	11	63974990	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	207855	63974990	71031526	349	2217											
BAD	572	broad.mit.edu	37	chr11	64037600	64037600	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctctttttgcataggcctGagggaagtacttccgcccat	7	13	9	12	1	1	1	0	1	1	0	3	2	3	2	4	2	2	2	4	2	3	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64037600G>C	ENST00000544785.1	-	2	397	c.397C>G	c.(397-399)Cag>Gag	p.Q133E	BAD_ENST00000394532.3_3'UTR|BAD_ENST00000309032.3_3'UTR			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	0					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GCATAGGCCTGAGGGAAGTAC	0.602													5	20					0	0	0	0	C	64037600	G	C	64037600	3	2	8	1	0	0	0	0	1	0	0	0	1289	1305	45	2		2	BAD	11	64037600	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	62610	64037600	70968916	350	2218											
BAD	572	broad.mit.edu	37	chr11	64037697	64037697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggtcactgggagggggcgGagcttcccctgcccaagttc	7	7	15	12	1	1	0	1	0	0	0	3	2	2	2	3	5	2	2	3	5	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64037697G>A	ENST00000394532.3	-	3	761	c.491C>T	c.(490-492)tCc>tTc	p.S164F	BAD_ENST00000309032.3_Missense_Mutation_p.S164F|BAD_ENST00000544785.1_Silent_p.L100L	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	164					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GGAGGGGGCGGAGCTTCCCCT	0.637													11	42					0	0	0	0	A	64037697	G	A	64037697	3	1	8	1	0	0	0	0	1	0	0	0	1289	1174	41	2	19	2	BAD	11	64037697	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	97	64037697	70968819	351	2219											
GPR137	56834	broad.mit.edu	37	chr11	64054131	64054131	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctccgtctatgcccagctCtggctggtgcttctgtatgg	3	15	11	12	1	4	0	0	0	4	0	5	0	4	0	2	3	3	4	2	3	2	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64054131C>G	ENST00000539851.1	+	2	602	c.135C>G	c.(133-135)ctC>ctG	p.L45L	GPR137_ENST00000377702.4_Silent_p.L45L|GPR137_ENST00000438980.2_Silent_p.L45L|GPR137_ENST00000313074.3_Silent_p.L45L|GPR137_ENST00000411458.1_Silent_p.L103L	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	45						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						ATGCCCAGCTCTGGCTGGTGC	0.627													44	138					0	0	0	0	G	64054131	C	G	64054131	2	3	8	1	0	0	0	0	0	0	0	1	6694	900	32	2		2	GPR137	11	64054131	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	16434	64054131	70952385	352	2220											
ESRRA	2101	broad.mit.edu	37	chr11	64082296	64082296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctgaccccgcaggccctGatgggcacctcccagccgtg	5	6	12	18	2	0	2	0	2	0	0	1	2	1	2	7	2	2	2	7	2	0	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64082296G>A	ENST00000405666.1	+	5	889	c.655G>A	c.(655-657)Gat>Aat	p.D219N	ESRRA_ENST00000406310.1_Missense_Mutation_p.D218N|ESRRA_ENST00000000442.6_Missense_Mutation_p.D219N			P11474	ERR1_HUMAN	estrogen-related receptor alpha	219	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCAGGCCCTGATGGGCACCT	0.587													12	59					0	0	0	0	A	64082296	G	A	64082296	3	1	8	1	0	0	0	0	1	0	0	0	5298	1290	45	2	669	2	ESRRA	11	64082296	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	28165	64082296	70924220	353	2221											
RASGRP2	10235	broad.mit.edu	37	chr11	64510267	64510267	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctcccgagccactcaccGaaggcttcgatgcacccgcg	7	5	10	19	5	1	0	1	0	0	0	3	3	2	0	5	1	2	2	5	1	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64510267G>A	ENST00000377494.1	-	1	994	c.73_splice	c.e1+1	p.F24_splice	RASGRP2_ENST00000377489.1_Splice_Site_p.F24_splice|RASGRP2_ENST00000394430.1_Splice_Site_p.F24_splice|RASGRP2_ENST00000394428.1_Splice_Site_p.F24_splice|RASGRP2_ENST00000377497.3_Splice_Site_p.F24_splice|RASGRP2_ENST00000377487.1_Splice_Site_p.F24_splice|RASGRP2_ENST00000394429.1_Splice_Site_p.F24_splice|RASGRP2_ENST00000394432.3_Splice_Site_p.F24_splice|RASGRP2_ENST00000354024.3_Splice_Site_p.F24_splice|RASGRP2_ENST00000377486.3_Splice_Site_p.F24_splice			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	24	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCACTCACCGAAGGCTTCGA	0.726													4	18					0	0	0	0	A	64510267	G	A	64510267	5	1	8	1	0	0	0	0	0	0	1	0	13157	1072	37	1	1817	1	RASGRP2	11	64510267	Splice_Site	SNP	G	TCGA-BA-5152-01A-02D-1870-08	427971	64510267	70496249	354	2222											
ATG2A	23130	broad.mit.edu	37	chr11	64673226	64673226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggtacctatagtccacaGagcaggagaacaggtgtgtg	11	8	13	9	0	0	2	0	0	0	2	1	3	1	2	3	3	3	2	3	3	4	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64673226G>A	ENST00000421419.2	-	23	3473	c.3359C>T	c.(3358-3360)tCt>tTt	p.S1120F	ATG2A_ENST00000377264.3_Missense_Mutation_p.S1120F			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1120							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATAGTCCACAGAGCAGGAGAA	0.632													7	84					0	0	0	0	A	64673226	G	A	64673226	3	1	8	1	0	0	0	0	1	0	0	0	1097	942	33	2	2533	2	ATG2A	11	64673226	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	162959	64673226	70333290	355	2223											
EFEMP2	30008	broad.mit.edu	37	chr11	65635368	65635368	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgcgagtttccagcacgGatctgaaaggcattgtaggc	9	9	12	11	2	1	1	0	1	1	0	2	3	2	2	2	3	2	4	2	3	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:65635368G>T	ENST00000307998.6	-	10	1364	c.1134C>A	c.(1132-1134)atC>atA	p.I378I	EFEMP2_ENST00000528176.1_Silent_p.I378I	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	378					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TTCCAGCACGGATCTGAAAGG	0.547													33	116					2.68265e-12	2.84536e-12	1	0	T	65635368	G	T	65635368	2	4	8	1	0	0	0	0	0	0	0	1	4978	1164	41	2		2	EFEMP2	11	65635368	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	962142	65635368	69371148	356	2224											
TSGA10IP	254187	broad.mit.edu	37	chr11	65727397	65727397	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaaccccagcctggacccgGagtgcagtccctgagataaa	12	5	10	14	1	0	1	0	1	0	1	1	4	1	3	5	2	3	1	5	2	3	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:65727397G>A	ENST00000532620.1	+	0	1888							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						CCTGGACCCGGAGTGCAGTCC	0.562													5	21					0	0	0	0	A	65727397	G	A	65727397	1	1	8	0	1	0	0	0	0	0	0	0	16713	1175	41	2		2	TSGA10IP	11	65727397	RNA	SNP	G	TCGA-BA-5152-01A-02D-1870-08	92029	65727397	69279119	357	2225											
RBM4B	83759	broad.mit.edu	37	chr11	66436418	66436418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagttgtgctttggacttGaggcagatgggacatggtct	8	12	14	7	0	1	2	0	1	1	1	1	4	1	4	0	4	1	3	0	4	0	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:66436418G>C	ENST00000525754.1	-	2	1425	c.757C>G	c.(757-759)Caa>Gaa	p.Q253E	RBM4B_ENST00000310046.4_Missense_Mutation_p.Q253E|RBM4B_ENST00000531969.1_Intron			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	253	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						CTTTGGACTTGAGGCAGATGG	0.542													4	158					0	0	0	0	C	66436418	G	C	66436418	3	2	8	1	0	0	0	0	1	0	0	0	13224	1299	45	2	326	2	RBM4B	11	66436418	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	709021	66436418	68570098	358	2226											
RBM4B	83759	broad.mit.edu	37	chr11	66436492	66436492	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgctgctactgcctcataaGagcggacccggtatcgctta	8	9	10	14	4	1	1	1	0	0	1	2	2	1	2	3	2	4	4	3	2	4	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:66436492G>C	ENST00000525754.1	-	2	1351	c.683C>G	c.(682-684)tCt>tGt	p.S228C	RBM4B_ENST00000310046.4_Missense_Mutation_p.S228C|RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000524637.1_3'UTR			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	228	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TGCCTCATAAGAGCGGACCCG	0.537													3	76					0	0	0	0	C	66436492	G	C	66436492	3	2	8	1	0	0	0	0	1	0	0	0	13224	942	33	2	400	2	RBM4B	11	66436492	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	74	66436492	68570024	359	2227											
IGHMBP2	3508	broad.mit.edu	37	chr11	68707045	68707045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgcgcccatgcccggcagaGaatcagccgggaaggggtcc	8	4	15	14	4	1	1	1	0	0	1	3	3	2	2	4	4	2	1	4	4	2	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:68707045G>A	ENST00000255078.3	+	15	2939	c.2828G>A	c.(2827-2829)aGa>aAa	p.R943K		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	943					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCCGGCAGAGAATCAGCCGG	0.642													16	60					0	0	0	0	A	68707045	G	A	68707045	3	1	8	1	0	0	0	0	1	0	0	0	7644	942	33	2	2886	2	IGHMBP2	11	68707045	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2270553	68707045	66299471	360	2228											
PDE2A	5138	broad.mit.edu	37	chr11	72290599	72290599	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgggagaaatgatcaaaGatgttgcagccgtgggtgtt	10	11	14	6	2	1	3	1	1	0	2	2	4	2	3	2	2	2	3	2	2	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:72290599G>T	ENST00000334456.5	-	26	2480	c.2235C>A	c.(2233-2235)atC>atA	p.I745I	PDE2A_ENST00000444035.2_Silent_p.I736I|PDE2A_ENST00000418754.2_Silent_p.I630I|PDE2A_ENST00000540345.1_Silent_p.I736I|PDE2A_ENST00000544570.1_Silent_p.I738I|PDE2A_ENST00000376450.3_Silent_p.I489I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	745	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AATGATCAAAGATGTTGCAGC	0.632													14	70					4.7546e-09	4.98399e-09	1	0	T	72290599	G	T	72290599	2	4	8	1	0	0	0	0	0	0	0	1	11707	932	33	2		2	PDE2A	11	72290599	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3583554	72290599	62715917	361	2229											
ARHGEF17	9828	broad.mit.edu	37	chr11	73073674	73073674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgagggtgacccccgcccaGagctggtgccctttgacagt	6	7	14	14	2	0	3	0	2	0	1	0	4	0	3	4	2	2	1	4	2	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:73073674G>A	ENST00000263674.3	+	14	5241	c.4891G>A	c.(4891-4893)Gag>Aag	p.E1631K		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1631					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCCCCGCCCAGAGCTGGTGCC	0.687													17	35					0	0	0	0	A	73073674	G	A	73073674	3	1	8	1	0	0	0	0	1	0	0	0	902	943	33	2	4945	2	ARHGEF17	11	73073674	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	783075	73073674	61932842	362	2230											
MYO7A	4647	broad.mit.edu	37	chr11	76891443	76891443	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtggcgcctcgaggctgaGaaaatgcggctggcggagga	8	6	18	9	4	0	1	0	1	0	1	1	5	0	3	1	6	1	2	1	6	2	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:76891443G>C	ENST00000409709.3	+	22	2882	c.2610G>C	c.(2608-2610)gaG>gaC	p.E870D	MYO7A_ENST00000458637.2_Missense_Mutation_p.E870D|MYO7A_ENST00000409893.1_Missense_Mutation_p.E870D|MYO7A_ENST00000409619.2_Missense_Mutation_p.E859D	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	870					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCGAGGCTGAGAAAATGCGGC	0.597													12	23					0	0	0	0	C	76891443	G	C	76891443	3	2	8	1	0	0	0	0	1	0	0	0	10152	933	33	2	2692	2	MYO7A	11	76891443	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3817769	76891443	58115073	363	2231											
BIRC3	330	broad.mit.edu	37	chr11	102195714	102195714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagatttttctgccttgatGagaagttcctaccactgtgc	9	14	8	10	0	1	3	0	2	1	2	2	4	2	3	3	0	3	1	3	0	3	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:102195714G>A	ENST00000263464.3	+	2	3224	c.474G>A	c.(472-474)atG>atA	p.M158I	BIRC3_ENST00000532808.1_Missense_Mutation_p.M158I	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	158					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CTGCCTTGATGAGAAGTTCCT	0.408			T	MALT1	MALT								60	147					0	0	0	0	A	102195714	G	A	102195714	3	1	8	1	0	0	0	0	1	0	0	0	1441	1290	45	2	476	2	BIRC3	11	102195714	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	25304271	102195714	32810802	364	2232											
DYNC2H1	79659	broad.mit.edu	37	chr11	103047052	103047052	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcacccggtttgatgcactGataaaagatgtctttccggg	9	12	11	9	2	1	3	0	2	1	1	2	3	2	3	2	2	2	3	2	2	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:103047052G>C	ENST00000375735.2	+	37	5907	c.5763G>C	c.(5761-5763)ctG>ctC	p.L1921L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L1921L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1921					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTGATGCACTGATAAAAGATG	0.363													5	18					0	0	0	0	C	103047052	G	C	103047052	2	2	8	1	0	0	0	0	0	0	0	1	4882	1277	45	2		2	DYNC2H1	11	103047052	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	851338	103047052	31959464	365	2233											
CASP5	838	broad.mit.edu	37	chr11	104871152	104871152	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgccatgagacatgagtAccaagaacgtgctgtcagag	13	7	13	8	1	1	4	1	2	0	3	1	6	1	5	2	1	4	2	2	1	3	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:104871152A>T	ENST00000393141.2	-	6	858	c.827T>A	c.(826-828)gTa>gAa	p.V276E	CASP5_ENST00000526056.1_Missense_Mutation_p.V276E|CASP5_ENST00000444749.2_Missense_Mutation_p.V205E|CASP5_ENST00000418434.1_Missense_Mutation_p.V121E|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000260315.3_Missense_Mutation_p.V263E|CASP5_ENST00000531367.1_Missense_Mutation_p.V121E	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	263					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AGACATGAGTACCAAGAACGT	0.458													22	81					0	0	0	0	T	104871152	A	T	104871152	3	4	8	1	0	0	0	0	1	0	0	0	2699	391	14	5	532	5	CASP5	11	104871152	Missense_Mutation	SNP	A	TCGA-BA-5152-01A-02D-1870-08	1824100	104871152	30135364	366	2234											
CUL5	8065	broad.mit.edu	37	chr11	107975080	107975080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacatcagaagagatgaatCtgatatcaacactttcatat	17	12	5	7	0	4	4	3	2	1	2	4	5	4	4	0	0	2	0	0	0	6	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:107975080C>G	ENST00000393094.2	+	19	2928	c.2312C>G	c.(2311-2313)tCt>tGt	p.S771C		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	771					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AGAGATGAATCTGATATCAAC	0.308													29	112					0	0	0	0	G	107975080	C	G	107975080	3	3	8	1	0	0	0	0	1	0	0	0	4091	913	32	2	2386	2	CUL5	11	107975080	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3103928	107975080	27031436	367	2235											
SIK3	23387	broad.mit.edu	37	chr11	116730297	116730297	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgcgggaaggtaagccttGaaactgggaagaagatgcag	14	6	15	6	1	0	3	0	1	0	2	0	5	0	5	1	3	4	2	1	3	5	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:116730297G>C	ENST00000375300.1	-	19	2310	c.2305C>G	c.(2305-2307)Caa>Gaa	p.Q769E	SIK3_ENST00000292055.4_Missense_Mutation_p.Q711E|SIK3_ENST00000434315.2_Missense_Mutation_p.Q610E|SIK3_ENST00000542607.1_Missense_Mutation_p.Q711E|SIK3_ENST00000375288.1_Missense_Mutation_p.Q106E|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.Q769E			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	711	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGTAAGCCTTGAAACTGGGAA	0.537											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	64					0	0	0	0	C	116730297	G	C	116730297	3	2	8	1	0	0	0	0	1	0	0	0	14407	1299	45	2	1680	2	SIK3	11	116730297	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	8755217	116730297	18276219	368	2236											
UBE4A	9354	broad.mit.edu	37	chr11	118239345	118239345	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtatacattttctggcaGatgaactcccagctagccca	12	10	7	12	0	1	2	0	1	1	1	2	2	2	2	2	1	4	3	2	1	4	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:118239345G>C	ENST00000252108.3	+	3	252		c.e3-1		UBE4A_ENST00000431736.2_Splice_Site	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A						ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTTTCTGGCAGATGAACTCCC	0.413													87	249					0	0	0	0	C	118239345	G	C	118239345	5	2	8	1	0	0	0	0	0	0	1	0	16978	956	33	2	127	2	UBE4A	11	118239345	Splice_Site	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1509048	118239345	16767171	369	2237											
TRAPPC4	51399	broad.mit.edu	37	chr11	118892481	118892481	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagggatcaagtttGtggttctagcagatcctagg	8	13	11	9	0	3	1	1	0	2	1	6	2	5	2	2	3	1	3	2	3	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:118892481G>C	ENST00000533632.1	+	4	830	c.466G>C	c.(466-468)Gtg>Ctg	p.V156L	TRAPPC4_ENST00000434101.2_Missense_Mutation_p.V102L|TRAPPC4_ENST00000526141.1_3'UTR|TRAPPC4_ENST00000359005.4_Intron|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.V156L|TRAPPC4_ENST00000525303.1_Missense_Mutation_p.V63L|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.V113L	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	156					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GATCAAGTTTGTGGTTCTAGC	0.408													13	60					0	0	0	0	C	118892481	G	C	118892481	3	2	8	1	0	0	0	0	1	0	0	0	16556	1377	48	4	480	4	TRAPPC4	11	118892481	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	653136	118892481	16114035	370	2238											
FAM118B	79607	broad.mit.edu	37	chr11	126110786	126110786	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgccccaagttccagccctCaaatcctggaaggggttaat	10	8	10	13	1	1	0	1	0	0	0	3	1	3	1	5	3	1	2	5	3	4	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:126110786C>G	ENST00000533050.1	+	4	679	c.186C>G	c.(184-186)ctC>ctG	p.L62L	FAM118B_ENST00000360194.4_Silent_p.L62L|FAM118B_ENST00000525728.1_3'UTR	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	62										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TTCCAGCCCTCAAATCCTGGA	0.453													74	256					0	0	0	0	G	126110786	C	G	126110786	2	3	8	1	0	0	0	0	0	0	0	1	5453	813	29	2		2	FAM118B	11	126110786	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7218305	126110786	8895730	371	2239											
ADAMTS8	11095	broad.mit.edu	37	chr11	130275461	130275461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcccccctgaatcacagggGgcacagctggctttcgcagg	7	7	13	14	1	1	1	1	1	0	0	2	1	1	1	3	4	2	4	3	4	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:130275461G>A	ENST00000257359.6	-	9	3368	c.2662C>T	c.(2662-2664)Ccc>Tcc	p.P888S		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	888	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AATCACAGGGGGCACAGCTGG	0.637													14	97					0	0	0	0	A	130275461	G	A	130275461	3	1	8	1	0	0	0	0	1	0	0	0	272	1232	43	4	11	4	ADAMTS8	11	130275461	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	4164675	130275461	4731055	372	2240											
IQSEC3	440073	broad.mit.edu	37	chr12	278251	278251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcccagggggacccacagtCaaagcaaggatcgccgacag	13	2	13	13	2	1	0	1	0	0	0	2	3	1	2	3	3	2	1	3	3	2	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:278251C>T	ENST00000538872.1	+	12	3162	c.3044C>T	c.(3043-3045)tCa>tTa	p.S1015L	IQSEC3_ENST00000537151.1_3'UTR|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S1015L|IQSEC3_ENST00000382841.2_Missense_Mutation_p.S712L|RP11-598F7.6_ENST00000537295.1_lincRNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1015					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GACCCACAGTCAAAGCAAGGA	0.642													32	64					0	0	0	0	T	278251	C	T	278251	3	4	8	1	0	0	0	0	1	0	0	0	7872	838	29	2	3090	2	IQSEC3	12	278251	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08		278251	133573644	373	2241											
VWF	7450	broad.mit.edu	37	chr12	6103292	6103292	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgctgcacagtccattcctGaacaagtgttttccagtctg	8	12	8	13	1	1	1	0	1	1	0	4	1	4	1	4	0	2	3	4	0	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:6103292G>A	ENST00000261405.5	-	37	6588	c.6334C>T	c.(6334-6336)Cag>Tag	p.Q2112*		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2112	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GTCCATTCCTGAACAAGTGTT	0.542													12	51					0	0	0	0	A	6103292	G	A	6103292	4	1	8	1	0	0	0	0	0	1	0	0	17342	1299	45	2	2171	2	VWF	12	6103292	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	5825041	6103292	127748603	374	2242											
VWF	7450	broad.mit.edu	37	chr12	6103365	6103365	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctccgttctcatcacaGatccctagagaaacaaacaa	14	9	6	12	1	2	2	2	0	1	2	5	3	4	2	2	1	2	2	2	1	4	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:6103365G>T	ENST00000261405.5	-	37	6515	c.6261C>A	c.(6259-6261)atC>atA	p.I2087I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2087	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCTCATCACAGATCCCTAGAG	0.478													14	42					2.61681e-11	2.76734e-11	1	0	T	6103365	G	T	6103365	2	4	8	1	0	0	0	0	0	0	0	1	17342	932	33	2		2	VWF	12	6103365	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	73	6103365	127748530	375	2243											
SCNN1A	6337	broad.mit.edu	37	chr12	6457124	6457124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagggtggcataggcaGggggaggggctgtcaaggct	7	5	21	8	0	1	0	1	0	0	0	1	1	1	1	1	9	0	4	1	9	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:6457124G>A	ENST00000358945.3	-	13	2431	c.1991C>T	c.(1990-1992)cCt>cTt	p.P664L	SCNN1A_ENST00000540037.1_Missense_Mutation_p.P342L|SCNN1A_ENST00000360168.3_Missense_Mutation_p.P701L|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000543768.1_Missense_Mutation_p.P665L|SCNN1A_ENST00000228916.2_Missense_Mutation_p.P642L			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	642					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	ggcataggcagggggaggggc	0.687													4	9					0	0	0	0	A	6457124	G	A	6457124	3	1	8	1	0	0	0	0	1	0	0	0	14014	1000	35	4	88	4	SCNN1A	12	6457124	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	353759	6457124	127394771	376	2244											
LAG3	3902	broad.mit.edu	37	chr12	6887472	6887472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccgcaggctcagagcaaGatagaggagctggagcaaga	13	4	14	10	1	1	4	1	0	0	4	2	6	2	6	2	3	3	5	2	3	3	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:6887472G>C	ENST00000203629.2	+	8	1827	c.1494G>C	c.(1492-1494)aaG>aaC	p.K498N		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	498						integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTCAGAGCAAGATAGAGGAGC	0.632													11	28					0	0	0	0	C	6887472	G	C	6887472	3	2	8	1	0	0	0	0	1	0	0	0	8653	933	33	2	1524	2	LAG3	12	6887472	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	430348	6887472	126964423	377	2245											
APOLD1	81575	broad.mit.edu	37	chr12	12940238	12940238	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaggaccagatgcgagaGatcctgagctgcctcgagtt	9	8	13	11	2	0	3	0	1	0	2	2	7	1	4	4	1	4	2	4	1	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:12940238G>A	ENST00000356591.4	+	2	484	c.399G>A	c.(397-399)gaG>gaA	p.E133E	RP11-59H1.3_ENST00000534843.1_Intron|APOLD1_ENST00000326765.6_Silent_p.E164E	NM_030817.2	NP_110444.3	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	164					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		AGATGCGAGAGATCCTGAGCT	0.642													40	99					0	0	0	0	A	12940238	G	A	12940238	2	1	8	1	0	0	0	0	0	0	0	1	813	933	33	2		2	APOLD1	12	12940238	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	6052766	12940238	120911657	378	2246											
GSG1	83445	broad.mit.edu	37	chr12	13243458	13243458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttcttccacagtttcctCacaggatagccacatgccac	9	11	7	14	0	2	0	1	0	1	0	4	1	4	1	4	2	2	2	4	2	1	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:13243458C>T	ENST00000337630.6	-	2	371	c.304G>A	c.(304-306)Gag>Aag	p.E102K	GSG1_ENST00000457134.2_Missense_Mutation_p.E102K|GSG1_ENST00000432710.2_Missense_Mutation_p.E115K|GSG1_ENST00000351606.6_Missense_Mutation_p.E115K|GSG1_ENST00000396302.3_Missense_Mutation_p.E102K|GSG1_ENST00000537302.1_Missense_Mutation_p.E102K|GSG1_ENST00000396310.2_Missense_Mutation_p.E99K|GSG1_ENST00000324458.8_Missense_Mutation_p.E115K	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	102						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ACAGTTTCCTCACAGGATAGC	0.542													21	53					0	0	0	0	T	13243458	C	T	13243458	3	4	8	1	0	0	0	0	1	0	0	0	6870	835	29	2	893	2	GSG1	12	13243458	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	303220	13243458	120608437	379	2247											
C12orf39	80763	broad.mit.edu	37	chr12	21680692	21680692	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcatctccgaccagagccgGagaaaggacctctccgaccg	10	6	10	15	4	3	2	1	0	2	2	5	6	3	3	6	2	1	0	6	2	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:21680692G>C	ENST00000256969.2	+	4	343	c.177G>C	c.(175-177)cgG>cgC	p.R59R		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN	chromosome 12 open reading frame 39	59						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ACCAGAGCCGGAGAAAGGACC	0.647													4	10					0	0	0	0	C	21680692	G	C	21680692	2	2	8	1	0	0	0	0	0	0	0	1	1696	1161	41	2		2	C12orf39	12	21680692	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	8437234	21680692	112171203	380	2248											
IPO8	10526	broad.mit.edu	37	chr12	30783892	30783892	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaatcttcttctttgcctCtagcatttttcaaaagaaaa	12	17	3	9	0	6	1	2	0	4	1	6	1	6	1	1	0	2	1	1	0	6	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:30783892C>G	ENST00000256079.4	-	25	3355		c.e25-1		IPO8_ENST00000544829.1_Splice_Site	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8						intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTCTTTGCCTCTAGCATTTTT	0.398													18	42					0	0	0	0	G	30783892	C	G	30783892	5	3	8	1	0	0	0	0	0	0	1	0	7851	927	32	2	101	2	IPO8	12	30783892	Splice_Site	SNP	C	TCGA-BA-5152-01A-02D-1870-08	9103200	30783892	103068003	381	2249											
PRPF40B	25766	broad.mit.edu	37	chr12	50029224	50029224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgaaaagaggtttatgatGatgtcctcttcttcctggcc	9	14	9	9	1	2	3	0	2	2	1	5	4	4	3	3	2	0	1	3	2	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:50029224G>A	ENST00000261897.1	+	13	1710	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	PRPF40B_ENST00000548825.2_Missense_Mutation_p.D415N|PRPF40B_ENST00000380281.1_Missense_Mutation_p.D393N			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	393					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGTTTATGATGATGTCCTCTT	0.512													46	154					0	0	0	0	A	50029224	G	A	50029224	3	1	8	1	0	0	0	0	1	0	0	0	12652	1290	45	2	1227	2	PRPF40B	12	50029224	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	19245332	50029224	83822671	382	2250											
BIN2	51411	broad.mit.edu	37	chr12	51685669	51685669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggggtgctgaggtcctctgGatagaggctctcttctttgg	4	13	16	8	0	3	2	0	1	3	1	5	3	4	3	1	6	1	2	1	6	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:51685669G>C	ENST00000267012.4	-	10	1282	c.1221C>G	c.(1219-1221)atC>atG	p.I407M	BIN2_ENST00000604560.1_Missense_Mutation_p.I380M|BIN2_ENST00000452142.2_Missense_Mutation_p.I375M|BIN2_ENST00000544402.1_Missense_Mutation_p.I381M	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	407						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGGTCCTCTGGATAGAGGCTC	0.587													29	93					0	0	0	0	C	51685669	G	C	51685669	3	2	8	1	0	0	0	0	1	0	0	0	1438	1164	41	2	492	2	BIN2	12	51685669	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1656445	51685669	82166226	383	2251											
KRT2	3849	broad.mit.edu	37	chr12	53045411	53045411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctcttgggccttcacattCtggatctctgggtcaacttt	5	15	9	12	1	5	0	2	0	3	0	6	1	5	1	1	3	1	1	1	3	1	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:53045411C>G	ENST00000309680.3	-	1	537	c.516G>C	c.(514-516)caG>caC	p.Q172H		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	172	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CCTTCACATTCTGGATCTCTG	0.527													41	136					0	0	0	0	G	53045411	C	G	53045411	3	3	8	1	0	0	0	0	1	0	0	0	8509	912	32	2	1439	2	KRT2	12	53045411	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1359742	53045411	80806484	384	2252											
ATP5G2	517	broad.mit.edu	37	chr12	54069937	54069937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacgagtcgctcagccaCggatagagtgattgcaacat	12	7	11	11	3	1	2	1	1	0	1	2	4	1	3	2	1	4	2	2	1	3	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:54069937C>T	ENST00000394349.3	-	1	172	c.40G>A	c.(40-42)Gtg>Atg	p.V14M	ATP5G2_ENST00000549164.1_Intron|ATP5G2_ENST00000338662.5_Intron	NM_005176.5	NP_005167.2	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	0					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CGCTCAGCCACGGATAGAGTG	0.637											OREG0021876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	87					0	0	0	0	T	54069937	C	T	54069937	3	4	8	1	0	0	0	0	1	0	0	0	1158	536	19	1	576	1	ATP5G2	12	54069937	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1024526	54069937	79781958	385	2253											
HNRNPA1	3178	broad.mit.edu	37	chr12	54675943	54675943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggcattaaagaagacactGaagaacatcacctaagagat	18	7	9	7	0	1	5	1	1	0	4	1	6	1	5	1	1	1	1	1	1	6	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:54675943G>A	ENST00000546500.1	+	4	964	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	HNRNPA1_ENST00000330752.8_Missense_Mutation_p.E117K|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.E117K|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.E117K|RP11-968A15.8_ENST00000553061.1_RNA			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	117	Globular B domain.|RRM 2.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGAAGACACTGAAGAACATCA	0.378													16	38					0	0	0	0	A	54675943	G	A	54675943	3	1	8	1	0	0	0	0	1	0	0	0	7307	1291	45	2	363	2	HNRNPA1	12	54675943	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	606006	54675943	79175952	386	2254											
COQ10A	93058	broad.mit.edu	37	chr12	56664084	56664084	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgtgaactgatgttccatGaggtgcaccagacttgaggc	9	9	12	11	1	0	5	0	4	0	1	1	5	1	5	3	2	2	2	3	2	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:56664084G>C	ENST00000308197.5	+	5	988	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	COQ10A_ENST00000433805.2_Missense_Mutation_p.E211Q|COQ10A_ENST00000546544.1_Missense_Mutation_p.E226Q	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	243						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GATGTTCCATGAGGTGCACCA	0.498													31	96					0	0	0	0	C	56664084	G	C	56664084	3	2	8	1	0	0	0	0	1	0	0	0	3773	1291	45	2	787	2	COQ10A	12	56664084	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1988141	56664084	77187811	387	2255											
DCTN2	10540	broad.mit.edu	37	chr12	57924487	57924487	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgctcactttcccagcttCttcatccgttcatcaatgct	6	16	5	14	1	5	0	4	0	1	0	7	0	7	0	2	0	3	4	2	0	1	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:57924487C>T	ENST00000548249.1	-	14	1458	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	DCTN2_ENST00000543672.1_Silent_p.K402K|DCTN2_ENST00000537439.1_Silent_p.K374K|DCTN2_ENST00000434715.3_Silent_p.K402K	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	397					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TTCCCAGCTTCTTCATCCGTT	0.473													11	143					0	0	0	0	T	57924487	C	T	57924487	2	4	8	1	0	0	0	0	0	0	0	1	4339	912	32	2		2	DCTN2	12	57924487	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1260403	57924487	75927408	388	2256											
XPOT	11260	broad.mit.edu	37	chr12	64813889	64813889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcataaaagataccatgaggGaacagtgcattccaaatctg	16	9	8	8	0	2	2	1	1	1	1	3	3	3	3	2	1	3	1	2	1	5	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:64813889G>A	ENST00000332707.5	+	7	1058	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	177	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TACCATGAGGGAACAGTGCAT	0.363													23	46					0	0	0	0	A	64813889	G	A	64813889	3	1	8	1	0	0	0	0	1	0	0	0	17546	1175	41	2	551	2	XPOT	12	64813889	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	6889402	64813889	69038006	389	2257											
CAPS2	84698	broad.mit.edu	37	chr12	75692498	75692498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccaagtcggtattgttttCcttttcttcgtccacactga	7	16	6	12	2	1	1	0	1	1	0	5	1	3	1	3	1	0	2	3	1	2	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:75692498C>T	ENST00000393284.3	-	11	975	c.374G>A	c.(373-375)gGa>gAa	p.G125E	CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409799.1_Missense_Mutation_p.G275E|CAPS2_ENST00000409445.3_Missense_Mutation_p.G357E			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	357			L -> F (in dbSNP:rs10879901).				calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GTATTGTTTTCCTTTTCTTCG	0.353													13	50					0	0	0	0	T	75692498	C	T	75692498	3	4	8	1	0	0	0	0	1	0	0	0	2663	855	30	2	631	2	CAPS2	12	75692498	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	10878609	75692498	58159397	390	2258											
SYT1	6857	broad.mit.edu	37	chr12	79689973	79689973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgagacaaaagtccaccGaaaaacccttaatcctgtct	15	10	5	11	1	1	1	0	1	1	1	3	3	3	1	4	0	1	0	4	0	5	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:79689973G>T	ENST00000261205.4	+	7	1256	c.599G>T	c.(598-600)cGa>cTa	p.R200L	SYT1_ENST00000457153.2_Missense_Mutation_p.R197L|SYT1_ENST00000552744.1_Missense_Mutation_p.R200L|SYT1_ENST00000393240.3_Missense_Mutation_p.R200L	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	200	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAAGTCCACCGAAAAACCCTT	0.383													22	60					1.10923e-09	1.16445e-09	1	0	T	79689973	G	T	79689973	3	4	8	1	0	0	0	0	1	0	0	0	15556	1058	37	3	613	3	SYT1	12	79689973	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3997475	79689973	54161922	391	2259											
TMTC3	160418	broad.mit.edu	37	chr12	88547232	88547232	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaactttttctggacaacaaGagtagtgtgattgcttcttt	11	16	8	6	0	2	2	0	1	2	1	2	3	2	3	0	1	3	2	0	1	4	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:88547232G>C	ENST00000266712.6	+	3	574	c.354G>C	c.(352-354)aaG>aaC	p.K118N		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	118						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TGGACAACAAGAGTAGTGTGA	0.328													19	67					0	0	0	0	C	88547232	G	C	88547232	3	2	8	1	0	0	0	0	1	0	0	0	16356	933	33	2	360	2	TMTC3	12	88547232	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	8857259	88547232	45304663	392	2260											
DEPDC4	120863	broad.mit.edu	37	chr12	100657384	100657384	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttggaatcttcaaattCtaattccttttcttttttga	10	21	4	6	0	4	1	1	1	3	0	5	2	5	2	1	1	0	1	1	1	4	10			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:100657384C>A	ENST00000416321.1	-	2	447	c.445G>T	c.(445-447)Gaa>Taa	p.E149*		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	149	DEP.				intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TCTTCAAATTCTAATTCCTTT	0.338													27	51					2.44723e-14	2.60723e-14	1	0	A	100657384	C	A	100657384	4	1	8	1	0	0	0	0	0	1	0	0	4478	922	32	2	455	2	DEPDC4	12	100657384	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	12110152	100657384	33194511	393	2261											
DEPDC4	120863	broad.mit.edu	37	chr12	100657450	100657450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatactttgtgattcattaGaacttggcaaagatgaaccc	15	12	7	7	0	1	4	1	2	0	2	1	4	1	4	1	1	3	1	1	1	6	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:100657450G>C	ENST00000416321.1	-	2	381	c.379C>G	c.(379-381)Cta>Gta	p.L127V		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	127	DEP.				intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TGATTCATTAGAACTTGGCAA	0.358													31	71					0	0	0	0	C	100657450	G	C	100657450	3	2	8	1	0	0	0	0	1	0	0	0	4478	933	33	2	521	2	DEPDC4	12	100657450	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	66	100657450	33194445	394	2262											
PAH	5053	broad.mit.edu	37	chr12	103248921	103248921	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatgtggacttactctgcagGaactgagaaacgtcttccag	11	10	11	9	1	2	1	0	1	2	1	3	5	3	3	1	2	4	1	1	2	3	2	rs62517208		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:103248921G>A	ENST00000553106.1	-	6	1171	c.699C>T	c.(697-699)ttC>ttT	p.F233F	PAH_ENST00000307000.2_Silent_p.F228F	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	233			F -> L (in PKU; haplotypes 2,3).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TACTCTGCAGGAACTGAGAAA	0.488													17	48					0	0	0	0	A	103248921	G	A	103248921	2	1	8	1	0	0	0	0	0	0	0	1	11465	1165	41	2		2	PAH	12	103248921	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2591471	103248921	30602974	395	2263											
C12orf45	121053	broad.mit.edu	37	chr12	105388468	105388468	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtccagcaagtaaaaaaaaGaaatagtcaaataaattatc	23	8	5	5	0	1	1	1	0	0	1	3	1	2	1	1	0	1	2	1	0	11	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:105388468G>C	ENST00000552951.1	+	4	595	c.552G>C	c.(550-552)aaG>aaC	p.K184N	C12orf45_ENST00000548583.1_Intron|C12orf45_ENST00000280749.5_3'UTR	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	184										large_intestine(1)|lung(2)	3						GTAAAAAAAAGAAATAGTCAA	0.368													16	34					0	0	0	0	C	105388468	G	C	105388468	3	2	8	1	0	0	0	0	1	0	0	0	1703	933	33	2	566	2	C12orf45	12	105388468	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2139547	105388468	28463427	396	2264											
ALDH1L2	160428	broad.mit.edu	37	chr12	105446691	105446691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcatttttaccatgatttCattgacctcctttgaaatct	9	18	5	9	0	2	3	1	3	1	0	3	3	3	3	3	1	1	1	3	1	2	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:105446691C>T	ENST00000258494.9	-	11	1446	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.E436K	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	436					10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACCATGATTTCATTGACCTCC	0.363											OREG0022073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	55					0	0	0	0	T	105446691	C	T	105446691	3	4	8	1	0	0	0	0	1	0	0	0	495	835	29	2	1517	2	ALDH1L2	12	105446691	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	58223	105446691	28405204	397	2265											
ACACB	32	broad.mit.edu	37	chr12	109577263	109577263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttctcctgtctgaccttttCctggttaaaaatctggggga	7	16	9	9	0	3	1	0	1	3	0	5	2	4	2	3	3	0	1	3	3	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:109577263C>G	ENST00000338432.7	+	2	172	c.53C>G	c.(52-54)tCc>tGc	p.S18C	ACACB_ENST00000377854.5_Missense_Mutation_p.S18C|ACACB_ENST00000377848.3_Missense_Mutation_p.S18C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	18					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CTGACCTTTTCCTGGTTAAAA	0.433													10	91					0	0	0	0	G	109577263	C	G	109577263	3	3	8	1	0	0	0	0	1	0	0	0	107	855	30	2	55	2	ACACB	12	109577263	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	4130572	109577263	24274632	398	2266											
ACACB	32	broad.mit.edu	37	chr12	109629726	109629726	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgcgatgttcagaacgtgCatgacagatttcttacactc	11	12	9	9	2	2	3	1	1	1	2	3	5	2	3	0	0	4	2	0	0	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:109629726C>T	ENST00000338432.7	+	15	2489	c.2370C>T	c.(2368-2370)tgC>tgT	p.C790C	ACACB_ENST00000377854.5_Silent_p.C790C|ACACB_ENST00000377848.3_Silent_p.C790C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	790					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCAGAACGTGCATGACAGATT	0.517													6	76					0	0	0	0	T	109629726	C	T	109629726	2	4	8	1	0	0	0	0	0	0	0	1	107	718	25	4		4	ACACB	12	109629726	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	52463	109629726	24222169	399	2267											
TRAFD1	10906	broad.mit.edu	37	chr12	112590581	112590581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagctggggatgcagaagagGaagaggaggagtaatggtgt	13	6	20	2	0	0	3	0	0	0	3	0	8	0	7	0	6	2	3	0	6	3	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:112590581G>A	ENST00000257604.5	+	12	2352	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	TRAFD1_ENST00000412615.2_Missense_Mutation_p.E579K	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	579	Poly-Glu.				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TGCAGAAGAGGAAGAGGAGGA	0.493													14	72					0	0	0	0	A	112590581	G	A	112590581	3	1	8	1	0	0	0	0	1	0	0	0	16542	1175	41	2	1777	2	TRAFD1	12	112590581	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2960855	112590581	21261314	400	2268											
C12orf49	79794	broad.mit.edu	37	chr12	117175661	117175661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagggcgagcacccacctCttccgcagaagccggcgcca	9	3	11	18	4	1	1	0	0	1	1	2	2	2	1	6	2	2	2	6	2	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:117175661C>G	ENST00000261318.3	-	1	205	c.45G>C	c.(43-45)aaG>aaC	p.K15N	C12orf49_ENST00000536380.1_Missense_Mutation_p.E38Q	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	15						extracellular region				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		GCACCCACCTCTTCCGCAGAA	0.721													12	24					0	0	0	0	G	117175661	C	G	117175661	3	3	8	1	0	0	0	0	1	0	0	0	1705	912	32	2	592	2	C12orf49	12	117175661	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	4585080	117175661	16676234	401	2269											
C12orf43	64897	broad.mit.edu	37	chr12	121448689	121448689	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggaattcaggggtggtctGaagctcgttgccatcttgtt	6	14	13	8	2	3	1	1	1	2	0	5	2	3	2	1	4	2	3	1	4	2	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:121448689G>A	ENST00000445832.3	-	3	241	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	C12orf43_ENST00000539736.1_Nonsense_Mutation_p.Q77*|C12orf43_ENST00000288757.3_Nonsense_Mutation_p.Q77*|C12orf43_ENST00000537817.1_Nonsense_Mutation_p.Q78*|C12orf43_ENST00000536407.2_Nonsense_Mutation_p.Q77*|C12orf43_ENST00000366211.2_Nonsense_Mutation_p.Q35*			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	77										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGGTGGTCTGAAGCTCGTTG	0.527													50	95					0	0	0	0	A	121448689	G	A	121448689	4	1	8	1	0	0	0	0	0	1	0	0	1701	1299	45	2	575	2	C12orf43	12	121448689	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	4273028	121448689	12403206	402	2270											
ZCCHC8	55596	broad.mit.edu	37	chr12	122962395	122962395	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatgaaacctacctgaatcGagctccatgtcggcgggaga	11	7	13	10	3	0	3	0	2	0	1	3	6	1	4	3	3	3	1	3	3	3	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:122962395G>A	ENST00000543897.1	-	11	2979	c.624C>T	c.(622-624)ctC>ctT	p.L208L	ZCCHC8_ENST00000336229.4_Silent_p.L446L|ZCCHC8_ENST00000538116.1_Silent_p.L57L|ZCCHC8_ENST00000536306.1_Silent_p.L208L			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	446						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TACCTGAATCGAGCTCCATGT	0.463													14	43					0	0	0	0	A	122962395	G	A	122962395	2	1	8	1	0	0	0	0	0	0	0	1	17689	1045	37	1		1	ZCCHC8	12	122962395	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1513706	122962395	10889500	403	2271											
ZCCHC8	55596	broad.mit.edu	37	chr12	122967208	122967208	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaatctttcatttggtgttCttcagaaccacaattgaaac	12	14	6	9	0	4	2	2	1	2	1	4	2	4	2	1	1	2	2	1	1	4	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:122967208C>G	ENST00000336229.4	-	8	836	c.706G>C	c.(706-708)Gaa>Caa	p.E236Q	ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	236						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		ATTTGGTGTTCTTCAGAACCA	0.289													14	44					0	0	0	0	G	122967208	C	G	122967208	3	3	8	1	0	0	0	0	1	0	0	0	17689	922	32	2	1445	2	ZCCHC8	12	122967208	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	4813	122967208	10884687	404	2272											
KNTC1	9735	broad.mit.edu	37	chr12	123014683	123014683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagtgtcggttcaagaaaaGaacatggaactgctttatat	14	12	10	5	1	1	3	1	1	0	2	2	4	1	4	0	2	3	2	0	2	7	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:123014683G>C	ENST00000333479.7	+	2	250	c.73G>C	c.(73-75)Gaa>Caa	p.E25Q	KNTC1_ENST00000450485.2_Missense_Mutation_p.E25Q	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	25					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCAAGAAAAGAACATGGAAC	0.383													34	113					0	0	0	0	C	123014683	G	C	123014683	3	2	8	1	0	0	0	0	1	0	0	0	8480	943	33	2	75	2	KNTC1	12	123014683	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	47475	123014683	10837212	405	2273											
SBNO1	55206	broad.mit.edu	37	chr12	123782660	123782660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acataatacataatatgtacGgcaacgaagacctatttcac	17	10	5	9	2	1	1	1	0	0	1	1	2	1	1	1	1	3	2	1	1	8	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:123782660G>A	ENST00000420886.2	-	30	3903	c.3904C>T	c.(3904-3906)Cgt>Tgt	p.R1302C	SBNO1_ENST00000602750.1_Missense_Mutation_p.R1301C|SBNO1_ENST00000602398.1_Missense_Mutation_p.R1302C|SBNO1_ENST00000267176.4_Missense_Mutation_p.R1301C	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1302							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TAATATGTACGGCAACGAAGA	0.413													35	78					0	0	0	0	A	123782660	G	A	123782660	3	1	8	1	0	0	0	0	1	0	0	0	13948	1116	39	1	285	1	SBNO1	12	123782660	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	767977	123782660	10069235	406	2274											
SBNO1	55206	broad.mit.edu	37	chr12	123810857	123810857	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcagatctgcagcttgctGaaaccgctctctggcgatga	10	10	10	11	2	3	3	1	2	2	1	4	4	3	3	1	1	4	4	1	1	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:123810857G>A	ENST00000420886.2	-	13	1716	c.1717C>T	c.(1717-1719)Cag>Tag	p.Q573*	SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q572*|SBNO1_ENST00000602398.1_Nonsense_Mutation_p.Q573*|SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q572*	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	573							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GCAGCTTGCTGAAACCGCTCT	0.403													20	175					0	0	0	0	A	123810857	G	A	123810857	4	1	8	1	0	0	0	0	0	1	0	0	13948	1299	45	2	2540	2	SBNO1	12	123810857	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	28197	123810857	10041038	407	2275											
GJA3	2700	broad.mit.edu	37	chr13	20716765	20716765	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccagcccaggtggtagatCtccagcatgttgagcagcag	9	9	12	11	0	1	2	0	1	1	1	3	2	2	2	3	2	4	5	3	2	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:20716765C>G	ENST00000241125.3	-	2	839	c.663G>C	c.(661-663)gaG>gaC	p.E221D		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	221					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GGTGGTAGATCTCCAGCATGT	0.662													4	23					0	0	0	0	G	20716765	C	G	20716765	3	3	8	1	0	0	0	0	1	0	0	0	6453	912	32	2	648	2	GJA3	13	20716765	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08		20716765	94453113	408	2276											
GJB6	10804	broad.mit.edu	37	chr13	20797248	20797248	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacccctctatccgaaccttCtgctttttaatgtcctctat	7	16	4	14	1	3	0	0	0	3	0	5	2	5	0	5	0	2	1	5	0	4	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:20797248C>T	ENST00000356192.6	-	5	992	c.372G>A	c.(370-372)caG>caA	p.Q124Q	GJB6_ENST00000400065.3_Silent_p.Q124Q|GJB6_ENST00000241124.6_Silent_p.Q124Q|GJB6_ENST00000400066.3_Silent_p.Q124Q	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	124				Q -> H (in Ref. 1; CAA06611).	cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TCCGAACCTTCTGCTTTTTAA	0.463													15	48					0	0	0	0	T	20797248	C	T	20797248	2	4	8	1	0	0	0	0	0	0	0	1	6463	912	32	2		2	GJB6	13	20797248	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	80483	20797248	94372630	409	2277											
FLT1	2321	broad.mit.edu	37	chr13	29001376	29001376	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccatatgcggtacaagtCaggatttgtctgctgcccag	10	11	10	10	1	2	0	1	0	1	0	2	1	2	1	2	2	5	2	2	2	4	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:29001376C>A	ENST00000282397.4	-	10	1607	c.1356G>T	c.(1354-1356)ctG>ctT	p.L452L	FLT1_ENST00000539099.1_Silent_p.L452L|FLT1_ENST00000541932.1_Silent_p.L452L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	452	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CGGTACAAGTCAGGATTTGTC	0.488													18	61					9.16793e-09	9.59621e-09	1	0	A	29001376	C	A	29001376	2	1	8	1	0	0	0	0	0	0	0	1	5986	813	29	2		2	FLT1	13	29001376	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	8204128	29001376	86168502	410	2278											
KATNAL1	84056	broad.mit.edu	37	chr13	30804674	30804674	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcatcagaggttcctcttcGactgcagatagaatctatct	10	14	7	10	1	5	3	2	0	3	3	7	4	6	3	1	1	1	2	1	1	3	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:30804674G>A	ENST00000380615.3	-	8	1110	c.943C>T	c.(943-945)Cga>Tga	p.R315*	KATNAL1_ENST00000380617.3_Nonsense_Mutation_p.R315*	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	315						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GTTCCTCTTCGACTGCAGATA	0.348													6	40					0	0	0	0	A	30804674	G	A	30804674	4	1	8	1	0	0	0	0	0	1	0	0	8038	1066	37	1	545	1	KATNAL1	13	30804674	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1803298	30804674	84365204	411	2279											
POSTN	10631	broad.mit.edu	37	chr13	38154776	38154776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcgcggaatatgtgaatcGcaccgtttctcccttgctta	7	14	8	12	4	2	1	0	1	2	0	5	2	2	2	2	1	1	3	2	1	4	4	rs145787730	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:38154776G>A	ENST00000379747.4	-	11	1568	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	POSTN_ENST00000541481.1_Missense_Mutation_p.A484V|POSTN_ENST00000541179.1_Missense_Mutation_p.A484V|POSTN_ENST00000379742.4_Missense_Mutation_p.A484V|POSTN_ENST00000379743.4_Missense_Mutation_p.A484V|POSTN_ENST00000379749.4_Missense_Mutation_p.A484V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	484	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TATGTGAATCGCACCGTTTCT	0.443													22	145					0	0	0	0	A	38154776	G	A	38154776	3	1	8	1	0	0	0	0	1	0	0	0	12331	1087	38	1	1111	1	POSTN	13	38154776	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	7350102	38154776	77015102	412	2280											
FREM2	341640	broad.mit.edu	37	chr13	39450265	39450265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaccagccagtacagcagtgGagctttgtctctgactttgc	9	11	10	11	0	1	1	0	1	1	0	2	2	1	2	2	1	6	3	2	1	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:39450265G>C	ENST00000280481.7	+	19	8604	c.8388G>C	c.(8386-8388)tgG>tgC	p.W2796C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2796					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TACAGCAGTGGAGCTTTGTCT	0.418													27	150					0	0	0	0	C	39450265	G	C	39450265	3	2	8	1	0	0	0	0	1	0	0	0	6093	1183	41	2	8462	2	FREM2	13	39450265	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1295489	39450265	75719613	413	2281											
NAA16	79612	broad.mit.edu	37	chr13	41894879	41894879	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgttaccgaaatgccctCaaattagataaagataacct	18	10	5	8	1	1	2	1	0	0	2	1	3	1	2	3	0	3	1	3	0	8	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:41894879C>G	ENST00000379406.3	+	4	645	c.321C>G	c.(319-321)ctC>ctG	p.L107L	NAA16_ENST00000379367.3_Silent_p.L107L|NAA16_ENST00000403412.3_Silent_p.L107L	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	107					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GAAATGCCCTCAAATTAGATA	0.358													3	71					0	0	0	0	G	41894879	C	G	41894879	2	3	8	1	0	0	0	0	0	0	0	1	10189	813	29	2		2	NAA16	13	41894879	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2444614	41894879	73274999	414	2282											
CPB2	1361	broad.mit.edu	37	chr13	46629983	46629983	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcttcactggctactagaGactggaagcaacaagatata	14	9	9	9	0	1	2	1	0	0	2	1	4	1	3	0	2	4	3	0	2	7	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:46629983G>C	ENST00000181383.4	-	10	1017	c.999_splice	c.e10-1	p.S334_splice	CPB2-AS1_ENST00000415033.2_RNA|CPB2_ENST00000439329.3_Splice_Site_p.S297_splice|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	334					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GGCTACTAGAGACTGGAAGCA	0.333													16	72					0	0	0	0	C	46629983	G	C	46629983	5	2	8	1	0	0	0	0	0	0	1	0	3827	956	33	2	278	2	CPB2	13	46629983	Splice_Site	SNP	G	TCGA-BA-5152-01A-02D-1870-08	4735104	46629983	68539895	415	2283											
RBM26	64062	broad.mit.edu	37	chr13	79911392	79911392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcacctcgacctcttgaatGaattcctctgccccgaccag	8	10	7	16	2	2	2	0	2	2	0	4	4	3	2	6	0	2	1	6	0	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:79911392G>A	ENST00000438737.2	-	19	3018	c.2578C>T	c.(2578-2580)Cat>Tat	p.H860Y	RBM26_ENST00000438724.1_Missense_Mutation_p.H836Y|RBM26_ENST00000267229.7_Missense_Mutation_p.H833Y			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	860					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CCTCTTGAATGAATTCCTCTG	0.547													4	100					0	0	0	0	A	79911392	G	A	79911392	3	1	8	1	0	0	0	0	1	0	0	0	13208	1290	45	2	461	2	RBM26	13	79911392	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	33281409	79911392	35258486	416	2284											
ABCC4	10257	broad.mit.edu	37	chr13	95858999	95858999	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagccaaattcatccctctGaggcaggaacttctcagaat	13	9	8	11	0	3	2	2	1	2	1	5	4	4	3	2	2	2	1	2	2	4	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:95858999G>A	ENST00000376887.4	-	8	1062	c.948C>T	c.(946-948)ctC>ctT	p.L316L	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.L241L|ABCC4_ENST00000431522.1_Silent_p.L316L|ABCC4_ENST00000412704.1_Silent_p.L316L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	316	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TCATCCCTCTGAGGCAGGAAC	0.463													21	220					0	0	0	0	A	95858999	G	A	95858999	2	1	8	1	0	0	0	0	0	0	0	1	55	1277	45	2		2	ABCC4	13	95858999	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	15947607	95858999	19310879	417	2285											
RAP2A	5911	broad.mit.edu	37	chr13	98086811	98086811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgtgaccggcaccttcatCgagaaatacgaccccaccat	11	8	7	15	4	1	2	1	1	0	1	3	4	1	2	5	1	1	1	5	1	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:98086811C>T	ENST00000245304.4	+	1	336	c.87C>T	c.(85-87)atC>atT	p.I29I		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	29					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			GCACCTTCATCGAGAAATACG	0.642													18	90					0	0	0	0	T	98086811	C	T	98086811	2	4	8	1	0	0	0	0	0	0	0	1	13122	874	31	1		1	RAP2A	13	98086811	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2227812	98086811	17083067	418	2286											
TM9SF2	9375	broad.mit.edu	37	chr13	100204467	100204467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaatctgatcctctggggaGaaggatcttcagcagctatt	10	12	11	8	0	4	3	1	2	3	1	5	5	5	4	1	3	2	2	1	3	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:100204467G>A	ENST00000376387.4	+	13	1565	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	459					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CCTCTGGGGAGAAGGATCTTC	0.423													22	132					0	0	0	0	A	100204467	G	A	100204467	3	1	8	1	0	0	0	0	1	0	0	0	16072	943	33	2	1425	2	TM9SF2	13	100204467	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2117656	100204467	14965411	419	2287											
PCCA	5095	broad.mit.edu	37	chr13	100764110	100764110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagacttttgataaaattCttgttgctaatagaggagaa	14	15	8	4	0	2	4	1	1	1	3	2	5	2	4	0	1	1	2	0	1	5	9			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:100764110C>G	ENST00000376285.1	+	3	237	c.199C>G	c.(199-201)Ctt>Gtt	p.L67V	PCCA_ENST00000376279.3_Missense_Mutation_p.L67V|PCCA_ENST00000376286.4_Missense_Mutation_p.L41V	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	67	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGATAAAATTCTTGTTGCTAA	0.303													9	24					0	0	0	0	G	100764110	C	G	100764110	3	3	8	1	0	0	0	0	1	0	0	0	11575	913	32	2	209	2	PCCA	13	100764110	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	559643	100764110	14405768	420	2288											
RBM23	55147	broad.mit.edu	37	chr14	23371581	23371581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccgccgggcacactcaGaatcagagaactatgagaaa	14	4	12	11	2	2	3	2	1	0	3	2	5	2	3	2	2	1	1	2	2	4	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:23371581G>T	ENST00000359890.3	-	11	1136	c.941C>A	c.(940-942)tCt>tAt	p.S314Y	RBM23_ENST00000555209.1_Missense_Mutation_p.S64Y|RBM23_ENST00000542016.2_Missense_Mutation_p.S144Y|RBM23_ENST00000346528.5_Missense_Mutation_p.S280Y|RBM23_ENST00000399922.2_Missense_Mutation_p.S298Y	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	314	RRM 2.				mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GGCACACTCAGAATCAGAGAA	0.532													15	35					3.45872e-05	3.55287e-05	1	0	T	23371581	G	T	23371581	3	4	8	1	0	0	0	0	1	0	0	0	13205	942	33	2	394	2	RBM23	14	23371581	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08		23371581	83977959	421	2289											
MYH7	4625	broad.mit.edu	37	chr14	23884362	23884362	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgagggcgatctgctCggcttcgtccagccggtgct	3	10	14	14	4	1	1	0	1	1	0	4	2	2	1	3	3	3	3	3	3	0	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:23884362C>A	ENST00000355349.3	-	37	5563	c.5401G>T	c.(5401-5403)Gag>Tag	p.E1801*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1801					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		GCGATCTGCTCGGCTTCGTCC	0.622													15	103					1.3612e-06	1.41447e-06	1	0	A	23884362	C	A	23884362	4	1	8	1	0	0	0	0	0	1	0	0	10109	893	31	3	422	3	MYH7	14	23884362	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	512781	23884362	83465178	422	2290											
PSME1	5720	broad.mit.edu	37	chr14	24606752	24606752	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagacaaggatgaaaagaaGaagggggaggatgaagacaa	21	2	16	2	0	0	6	0	2	0	4	0	10	0	9	0	4	0	0	0	4	8	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:24606752G>C	ENST00000382708.3	+	5	333	c.270G>C	c.(268-270)aaG>aaC	p.K90N	PSME1_ENST00000561435.1_Missense_Mutation_p.K90N|PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000206451.6_Missense_Mutation_p.K90N|PSME1_ENST00000559123.1_5'UTR	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	90					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		ATGAAAAGAAGAAGGGGGAGG	0.483													12	64					0	0	0	0	C	24606752	G	C	24606752	3	2	8	1	0	0	0	0	1	0	0	0	12785	933	33	2	288	2	PSME1	14	24606752	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	722390	24606752	82742788	423	2291											
RNF31	55072	broad.mit.edu	37	chr14	24618025	24618025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagatgctgcagctttcaGaatttgaccccctattgaga	10	13	8	10	0	2	4	2	2	0	3	2	5	2	4	2	0	3	3	2	0	2	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:24618025G>C	ENST00000324103.6	+	5	891	c.571G>C	c.(571-573)Gaa>Caa	p.E191Q	RNF31_ENST00000559275.1_Missense_Mutation_p.E40Q|RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000382687.3_Missense_Mutation_p.E40Q	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	191	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCAGCTTTCAGAATTTGACCC	0.483													47	240					0	0	0	0	C	24618025	G	C	24618025	3	2	8	1	0	0	0	0	1	0	0	0	13572	943	33	2	589	2	RNF31	14	24618025	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	11273	24618025	82731515	424	2292											
LTB4R	1241	broad.mit.edu	37	chr14	24785338	24785338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaccgcacagtagtgcccTggaaaacgaacatgagcctg	12	6	11	12	3	0	1	0	1	0	0	0	3	0	2	3	1	5	3	3	1	5	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:24785338T>C	ENST00000396789.4	+	2	2206	c.481T>C	c.(481-483)Tgg>Cgg	p.W161R	LTB4R_ENST00000345363.3_Missense_Mutation_p.W161R|LTB4R_ENST00000396782.2_Missense_Mutation_p.W161R	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	161					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		AGTAGTGCCCTGGAAAACGAA	0.637													3	119					0	0	0	0	C	24785338	T	C	24785338	3	2	8	1	0	0	0	0	1	0	0	0	9135	1580	55	5	483	5	LTB4R	14	24785338	Missense_Mutation	SNP	T	TCGA-BA-5152-01A-02D-1870-08	167313	24785338	82564202	425	2293											
KIAA0391	9692	broad.mit.edu	37	chr14	35593114	35593114	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctcatccggggattgatCcattcagacagatggagaga	11	10	11	9	1	2	4	2	1	1	3	5	7	4	6	2	3	0	0	2	3	0	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:35593114C>T	ENST00000557565.1	+	2	1044	c.663C>T	c.(661-663)atC>atT	p.I221I	KIAA0391_ENST00000534898.4_Silent_p.I221I|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000250377.7_Silent_p.I126I|KIAA0391_ENST00000321130.10_Silent_p.I221I|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Silent_p.I126I|KIAA0391_ENST00000603544.1_Silent_p.I221I			O15091	MRRP3_HUMAN	KIAA0391	221					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GGGGATTGATCCATTCAGACA	0.373													17	35					0	0	0	0	T	35593114	C	T	35593114	2	4	8	1	0	0	0	0	0	0	0	1	8223	845	30	2		2	KIAA0391	14	35593114	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	10807776	35593114	71756426	426	2294											
FSCB	84075	broad.mit.edu	37	chr14	44974621	44974621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgctagaagctgaatttCagcagaggcctcttctgcag	10	10	11	10	0	3	3	1	1	2	2	3	3	3	3	1	1	5	5	1	1	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:44974621C>T	ENST00000340446.4	-	1	1861	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	524	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCTGAATTTCAGCAGAGGCC	0.507													5	35					0	0	0	0	T	44974621	C	T	44974621	3	4	8	1	0	0	0	0	1	0	0	0	6114	835	29	2	911	2	FSCB	14	44974621	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	9381507	44974621	62374919	427	2295											
KLHL28	54813	broad.mit.edu	37	chr14	45414609	45414609	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagtcagcatgtgtaagctCaaaaaactcttcagtctggc	13	10	8	10	0	5	0	3	0	2	0	5	0	5	0	0	1	3	3	0	1	5	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:45414609C>G	ENST00000396128.4	-	2	642	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	KLHL28_ENST00000355081.2_Missense_Mutation_p.E189Q	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	175										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTGTAAGCTCAAAAAACTCT	0.383													4	103					0	0	0	0	G	45414609	C	G	45414609	3	3	8	1	0	0	0	0	1	0	0	0	8434	835	29	2	1208	2	KLHL28	14	45414609	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	439988	45414609	61934931	428	2296											
EXOC5	10640	broad.mit.edu	37	chr14	57699411	57699411	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagatcatagagatttttGagatattgctctgcatcgga	12	14	9	6	1	2	3	1	1	1	3	3	6	2	4	0	1	3	2	0	1	3	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:57699411G>C	ENST00000413566.2	-	10	1271	c.912C>G	c.(910-912)ctC>ctG	p.L304L	EXOC5_ENST00000340918.7_Silent_p.L239L	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	304					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						AGAGATTTTTGAGATATTGCT	0.254													3	55					0	0	0	0	C	57699411	G	C	57699411	2	2	8	1	0	0	0	0	0	0	0	1	5344	1277	45	2		2	EXOC5	14	57699411	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	12284802	57699411	49650129	429	2297											
SPTB	6710	broad.mit.edu	37	chr14	65259779	65259779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catctcggccagccacttctCcttctctcccatccacagct	6	11	4	20	1	3	0	0	0	3	0	8	0	5	0	5	1	2	1	5	1	0	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:65259779C>G	ENST00000389722.3	-	13	2655	c.2602G>C	c.(2602-2604)Gag>Cag	p.E868Q	SPTB_ENST00000389721.5_Missense_Mutation_p.E868Q|SPTB_ENST00000556626.1_Missense_Mutation_p.E868Q|SPTB_ENST00000542895.1_Missense_Mutation_p.E868Q|SPTB_ENST00000389720.3_Missense_Mutation_p.E868Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	868					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGCCACTTCTCCTTCTCTCCC	0.602													19	44					0	0	0	0	G	65259779	C	G	65259779	3	3	8	1	0	0	0	0	1	0	0	0	15208	864	30	2	4545	2	SPTB	14	65259779	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7560368	65259779	42089761	430	2298											
SERPINA9	327657	broad.mit.edu	37	chr14	94935785	94935785	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgaagagggcacttcccatCttcaaggtcaggtctttgct	9	11	10	11	1	4	1	2	0	2	1	5	2	5	1	1	3	1	2	1	3	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:94935785C>G	ENST00000337425.5	-	2	521	c.447G>C	c.(445-447)aaG>aaC	p.K149N	SERPINA9_ENST00000424550.2_5'UTR|SERPINA9_ENST00000448305.2_Missense_Mutation_p.K51N|SERPINA9_ENST00000380365.3_Missense_Mutation_p.K131N|SERPINA9_ENST00000546329.1_Missense_Mutation_p.K113N|SERPINA9_ENST00000298845.7_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	131					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CACTTCCCATCTTCAAGGTCA	0.512													30	153					0	0	0	0	G	94935785	C	G	94935785	3	3	8	1	0	0	0	0	1	0	0	0	14182	912	32	2	876	2	SERPINA9	14	94935785	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	29676006	94935785	12413755	431	2299											
MKRN3	7681	broad.mit.edu	37	chr15	23811327	23811327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccactgagggtggcgtttCgccgcctggggcctctgcag	3	8	17	13	3	1	1	0	1	1	0	2	1	1	1	4	5	1	2	4	5	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:23811327C>T	ENST00000314520.3	+	1	874	c.398C>T	c.(397-399)tCg>tTg	p.S133L	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	133						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGTGGCGTTTCGCCGCCTGGG	0.627													15	61					0	0	0	0	T	23811327	C	T	23811327	3	4	8	1	0	0	0	0	1	0	0	0	9677	893	31	1	400	1	MKRN3	15	23811327	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08		23811327	78720065	432	2300											
EIF2AK4	440275	broad.mit.edu	37	chr15	40257961	40257961	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggctttgtcttgttgtatGagtgggtccttcagtggcag	4	16	15	6	0	2	1	1	1	1	0	3	1	3	1	1	3	0	4	1	3	1	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:40257961G>C	ENST00000263791.5	+	8	977	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.E312Q|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E312Q	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	312	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTTGTTGTATGAGTGGGTCCT	0.408													16	63					0	0	0	0	C	40257961	G	C	40257961	3	2	8	1	0	0	0	0	1	0	0	0	5035	1291	45	2	964	2	EIF2AK4	15	40257961	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	16446634	40257961	62273431	433	2301											
GANC	2595	broad.mit.edu	37	chr15	42632913	42632913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgggtagagttccctgatGaactaaagacttttgatatg	11	14	11	5	0	0	5	0	3	0	2	1	5	1	5	1	1	1	2	1	1	5	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:42632913G>A	ENST00000318010.8	+	18	2353	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	705					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GTTCCCTGATGAACTAAAGAC	0.343													23	71					0	0	0	0	A	42632913	G	A	42632913	3	1	8	1	0	0	0	0	1	0	0	0	6283	1291	45	2	2183	2	GANC	15	42632913	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2374952	42632913	59898479	434	2302											
LCMT2	9836	broad.mit.edu	37	chr15	43620956	43620956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaatgggaggctggatgtCtactgactcccagaggaatc	10	9	14	8	0	1	2	0	1	1	1	3	5	2	5	1	5	1	2	1	5	3	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:43620956C>T	ENST00000305641.5	-	1	1847	c.1732G>A	c.(1732-1734)Gac>Aac	p.D578N	LCMT2_ENST00000544735.1_Missense_Mutation_p.D157N|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	578					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GGCTGGATGTCTACTGACTCC	0.517													35	81					0	0	0	0	T	43620956	C	T	43620956	3	4	8	1	0	0	0	0	1	0	0	0	8732	913	32	2	332	2	LCMT2	15	43620956	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	988043	43620956	58910436	435	2303											
LCMT2	9836	broad.mit.edu	37	chr15	43621022	43621022	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagagttcaatggctcctCagaagccccgagacctccag	11	6	9	15	1	2	3	2	0	0	3	4	4	4	3	5	1	1	2	5	1	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:43621022C>G	ENST00000305641.5	-	1	1781	c.1666G>C	c.(1666-1668)Gag>Cag	p.E556Q	LCMT2_ENST00000544735.1_Missense_Mutation_p.E135Q|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	556					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AATGGCTCCTCAGAAGCCCCG	0.557													9	121					0	0	0	0	G	43621022	C	G	43621022	3	3	8	1	0	0	0	0	1	0	0	0	8732	835	29	2	398	2	LCMT2	15	43621022	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	66	43621022	58910370	436	2304											
ZSCAN29	146050	broad.mit.edu	37	chr15	43653641	43653641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacattgataaggtttctctCctgtgtggattctcctatgg	7	16	9	9	0	2	1	0	1	2	0	5	2	3	2	2	3	0	1	2	3	2	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:43653641C>T	ENST00000396976.2	-	5	2323	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	ZSCAN29_ENST00000568898.1_Missense_Mutation_p.G340E|ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.G341E	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	730					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGTTTCTCTCCTGTGTGGAT	0.433													15	59					0	0	0	0	T	43653641	C	T	43653641	3	4	8	1	0	0	0	0	1	0	0	0	18327	855	30	2	373	2	ZSCAN29	15	43653641	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	32619	43653641	58877751	437	2305											
DUOXA1	90527	broad.mit.edu	37	chr15	45415129	45415129	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgcagtcagaaagatcatGatgatgctggccaaagtggt	13	9	13	6	0	2	4	2	2	0	2	2	4	2	4	1	2	2	2	1	2	2	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:45415129G>A	ENST00000558996.1	-	2	138	c.84C>T	c.(82-84)atC>atT	p.I28I	DUOXA1_ENST00000267803.4_Silent_p.I28I|DUOXA1_ENST00000559014.1_Silent_p.I28I|DUOXA1_ENST00000558422.1_Silent_p.I28I|DUOXA1_ENST00000430224.2_Silent_p.I28I|DUOXA1_ENST00000560572.1_Silent_p.I28I	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	28					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GAAAGATCATGATGATGCTGG	0.562													30	62					0	0	0	0	A	45415129	G	A	45415129	2	1	8	1	0	0	0	0	0	0	0	1	4838	1280	45	2		2	DUOXA1	15	45415129	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1761488	45415129	57116263	438	2306											
SPATA5L1	79029	broad.mit.edu	37	chr15	45695714	45695714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcccgggagatttgaccgaGaggtgaatgggcttggcggg	7	7	20	7	3	0	4	0	2	0	2	0	6	0	4	2	6	0	1	2	6	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:45695714G>C	ENST00000305560.6	+	1	1186	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.E363Q	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	363						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		ATTTGACCGAGAGGTGAATGG	0.662													6	53					0	0	0	0	C	45695714	G	C	45695714	3	2	8	1	0	0	0	0	1	0	0	0	15102	943	33	2	1089	2	SPATA5L1	15	45695714	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	280585	45695714	56835678	439	2307											
USP50	373509	broad.mit.edu	37	chr15	50830917	50830917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatccatacctttttaggtgGaaaataattatttttggtgc	12	17	7	5	0	0	0	0	0	0	0	1	1	1	1	2	3	2	0	2	3	7	8			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:50830917G>A	ENST00000532404.1	-	5	965	c.792C>T	c.(790-792)ttC>ttT	p.F264F	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN	ubiquitin specific peptidase 50	264					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TTTTTAGGTGGAAAATAATTA	0.368													6	5					0	0	0	0	A	50830917	G	A	50830917	2	1	8	1	0	0	0	0	0	0	0	1	17178	1165	41	2		2	USP50	15	50830917	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	5135203	50830917	51700475	440	2308											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499805	59499805	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgctcgttttcgtttcttGattggacaaaagcttggtat	8	17	9	7	2	1	1	0	1	1	0	3	2	1	2	0	2	2	5	0	2	3	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:59499805G>C	ENST00000307144.4	+	1	764	c.666G>C	c.(664-666)ttG>ttC	p.L222F	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	222					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	p.L222F(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	TTCGTTTCTTGATTGGACAAA	0.438													16	72					0	0	0	0	C	59499805	G	C	59499805	3	2	8	1	0	0	0	0	1	0	0	0	8753	1281	45	2	668	2	LDHAL6B	15	59499805	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	8668888	59499805	43031587	441	2309											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499959	59499959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggaactgataaagatcctGagcaatggaaaaatgtccac	17	8	9	7	0	0	3	0	2	0	1	2	5	2	5	2	2	2	1	2	2	7	2	rs139039522		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:59499959G>C	ENST00000307144.4	+	1	918	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	274					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	TAAAGATCCTGAGCAATGGAA	0.433													9	61					0	0	0	0	C	59499959	G	C	59499959	3	2	8	1	0	0	0	0	1	0	0	0	8753	1291	45	2	822	2	LDHAL6B	15	59499959	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	154	59499959	43031433	442	2310											
PDCD7	10081	broad.mit.edu	37	chr15	65412134	65412134	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttttctttgtttcttttCtaattctcttttcctctctt	2	28	1	10	0	6	0	0	0	6	0	9	0	7	0	1	0	0	1	1	0	1	12			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:65412134C>G	ENST00000204549.4	-	3	1222	c.1168G>C	c.(1168-1170)Gaa>Caa	p.E390Q		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	390					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						tgtttcttttctaattctctt	0.373													12	55					0	0	0	0	G	65412134	C	G	65412134	3	3	8	1	0	0	0	0	1	0	0	0	11696	922	32	2	301	2	PDCD7	15	65412134	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	5912175	65412134	37119258	443	2311											
MAP2K1	5604	broad.mit.edu	37	chr15	66781559	66781559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acatgtgtttgcagcctcctCcaaaactgcccagtggagtg	9	10	10	12	0	0	0	0	0	0	0	2	1	2	1	4	1	4	2	4	1	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:66781559C>G	ENST00000307102.5	+	9	1498	c.967C>G	c.(967-969)Cca>Gca	p.P323A	MAP2K1_ENST00000566326.1_Missense_Mutation_p.P147A	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	323	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GCAGCCTCCTCCAAAACTGCC	0.483													18	60					0	0	0	0	G	66781559	C	G	66781559	3	3	8	1	0	0	0	0	1	0	0	0	9305	855	30	2	1001	2	MAP2K1	15	66781559	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1369425	66781559	35749833	444	2312											
KIF23	9493	broad.mit.edu	37	chr15	69733362	69733362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtactggactgaaggcaggGaggtggttcctacattcaga	10	10	14	7	0	1	2	1	1	0	1	2	4	2	4	1	5	2	3	1	5	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:69733362G>C	ENST00000260363.4	+	18	2440	c.2323G>C	c.(2323-2325)Gag>Cag	p.E775Q	KIF23_ENST00000352331.4_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.E775Q|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000559279.1_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	775					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TGAAGGCAGGGAGGTGGTTCC	0.448													5	42					0	0	0	0	C	69733362	G	C	69733362	3	2	8	1	0	0	0	0	1	0	0	0	8342	1175	41	2	2393	2	KIF23	15	69733362	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2951803	69733362	32798030	445	2313											
CELF6	60677	broad.mit.edu	37	chr15	72608214	72608214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcttctgctcgtgcagtGcactctgggccttgagagca	5	11	14	11	1	3	1	0	1	3	1	4	2	3	1	1	2	4	4	1	2	0	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:72608214G>A	ENST00000287202.5	-	2	571	c.317C>T	c.(316-318)gCa>gTa	p.A106V	RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000567083.1_Missense_Mutation_p.A106V|RP11-106M3.3_ENST00000570175.1_RNA	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	106	RRM 1.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTCGTGCAGTGCACTCTGGGC	0.627													7	13					0	0	0	0	A	72608214	G	A	72608214	3	1	8	1	0	0	0	0	1	0	0	0	3249	1319	46	4	1172	4	CELF6	15	72608214	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2874852	72608214	29923178	446	2314											
TMEM202	338949	broad.mit.edu	37	chr15	72691140	72691140	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgatcgccatgtccccActgaactgggtacagtttct	8	12	9	12	1	1	2	0	2	1	0	3	2	2	2	3	1	3	3	3	1	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:72691140A>G	ENST00000341689.3	+	2	282	c.228A>G	c.(226-228)ccA>ccG	p.P76P	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	76						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCATGTCCCCACTGAACTGGG	0.527													26	56					0	0	0	0	G	72691140	A	G	72691140	2	3	8	1	0	0	0	0	0	0	0	1	16221	146	6	5		5	TMEM202	15	72691140	Silent	SNP	A	TCGA-BA-5152-01A-02D-1870-08	82926	72691140	29840252	447	2315											
STRA6	64220	broad.mit.edu	37	chr15	74477352	74477352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagcgcatcaggaccaGgaaggtgagtaagcaggaca	14	4	15	8	1	1	2	1	2	0	0	1	5	1	5	1	4	2	3	1	4	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:74477352G>C	ENST00000323940.5	-	13	1380	c.1135C>G	c.(1135-1137)Ctg>Gtg	p.L379V	STRA6_ENST00000574278.1_Missense_Mutation_p.L394V|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Missense_Mutation_p.L418V|STRA6_ENST00000535552.1_Missense_Mutation_p.L416V|STRA6_ENST00000423167.2_Missense_Mutation_p.L370V|STRA6_ENST00000416286.3_Missense_Mutation_p.L371V|STRA6_ENST00000395105.4_Missense_Mutation_p.L379V|STRA6_ENST00000449139.2_Missense_Mutation_p.L379V	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	379					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						ATCAGGACCAGGAAGGTGAGT	0.597													10	36					0	0	0	0	C	74477352	G	C	74477352	3	2	8	1	0	0	0	0	1	0	0	0	15412	991	35	4	896	4	STRA6	15	74477352	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1786212	74477352	28054040	448	2316											
CYP1A2	1544	broad.mit.edu	37	chr15	75044189	75044189	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tacagaggaagatccagaagGagctgggtacatgggggccc	12	5	16	8	0	0	3	0	0	0	3	1	5	1	5	2	5	3	2	2	5	4	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:75044189G>C	ENST00000343932.4	+	4	1099	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	346					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GATCCAGAAGGAGCTGGGTAC	0.522													16	70					0	0	0	0	C	75044189	G	C	75044189	3	2	8	1	0	0	0	0	1	0	0	0	4182	1175	41	2	1046	2	CYP1A2	15	75044189	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	566837	75044189	27487203	449	2317											
CYP1A2	1544	broad.mit.edu	37	chr15	75047131	75047131	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcctctgttcctcttgcaGagagctgtgggaggacccct	5	12	11	13	0	3	1	0	0	3	1	5	4	4	3	4	2	2	3	4	2	0	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:75047131G>C	ENST00000343932.4	+	7	1316		c.e7-1			NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2						alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TCCTCTTGCAGAGAGCTGTGG	0.592													18	112					0	0	0	0	C	75047131	G	C	75047131	5	2	8	1	0	0	0	0	0	0	1	0	4182	956	33	2	1275	2	CYP1A2	15	75047131	Splice_Site	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2942	75047131	27484261	450	2318											
LINGO1	84894	broad.mit.edu	37	chr15	77907918	77907918	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgttgaaggcgccgggctCcacggcgctcacgatgttct	5	10	14	12	5	2	1	1	1	1	0	3	2	3	1	2	3	0	5	2	3	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:77907918C>A	ENST00000355300.6	-	2	505	c.331G>T	c.(331-333)Gag>Tag	p.E111*	LINGO1_ENST00000561030.1_Nonsense_Mutation_p.E105*	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	111					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCGCCGGGCTCCACGGCGCTC	0.617													6	10					5.9392e-07	6.18954e-07	1	0	A	77907918	C	A	77907918	4	1	8	1	0	0	0	0	0	1	0	0	8869	864	30	2	1535	2	LINGO1	15	77907918	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2860787	77907918	24623474	451	2319											
KIAA1199	57214	broad.mit.edu	37	chr15	81171075	81171075	+	Frame_Shift_Del	DEL	C	C	-																															ttggcagtggctgctgggtgCcctgaccagagccctgagtt																										TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:81171075delC	ENST00000394685.3	+	4	527	c.108delC	c.(106-108)tgfs	p.C36fs	KIAA1199_ENST00000220244.3_Frame_Shift_Del_p.C36fs|KIAA1199_ENST00000356249.5_Frame_Shift_Del_p.C36fs			Q8WUJ3	K1199_HUMAN	KIAA1199	36										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGCTGGGTGCCCTGACCAGA	0.582													11	77	---	---	---	---					-	81171075	C	-	81171075	7	5	8	1	0	1	0	1	0	0	0	0	8264	747	26	0	114	0	KIAA1199	15	81171075	Frame_Shift_Del	DEL	C	TCGA-BA-5152-01A-02D-1870-08	3263157	81171075	21360317	452	2320											
FAM154B	283726	broad.mit.edu	37	chr15	82575272	82575272	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtaaccatgtactctgtaGagtacacaccgaaaagacag	16	8	8	9	1	1	2	0	0	1	2	1	3	1	2	2	0	3	4	2	0	6	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:82575272G>C	ENST00000339465.5	+	3	1135	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.E341Q	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	356										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GTACTCTGTAGAGTACACACC	0.398													11	59					0	0	0	0	C	82575272	G	C	82575272	3	2	8	1	0	0	0	0	1	0	0	0	5505	943	33	2	1076	2	FAM154B	15	82575272	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1404197	82575272	19956120	453	2321											
BNC1	646	broad.mit.edu	37	chr15	83932315	83932315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaggggcatgtcttcatctGagctgaggttgtgtcttttc	5	16	13	7	0	4	2	1	2	3	0	5	2	4	2	0	3	1	4	0	3	1	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:83932315G>A	ENST00000345382.2	-	4	1773	c.1688C>T	c.(1687-1689)tCa>tTa	p.S563L	BNC1_ENST00000569704.1_Missense_Mutation_p.S556L|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	563					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTCTTCATCTGAGCTGAGGTT	0.478													25	174					0	0	0	0	A	83932315	G	A	83932315	3	1	8	1	0	0	0	0	1	0	0	0	1479	1294	45	2	1304	2	BNC1	15	83932315	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1357043	83932315	18599077	454	2322											
ISG20	3669	broad.mit.edu	37	chr15	89195491	89195491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctggaccactgcaggCgtgtctccctgcgggtgctg	5	8	14	14	2	1	0	0	0	1	0	2	1	1	1	3	3	4	3	3	3	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:89195491C>T	ENST00000306072.5	+	3	737	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	ISG20_ENST00000560746.1_3'UTR|ISG20_ENST00000560741.1_Missense_Mutation_p.R127C	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	127					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			CCACTGCAGGCGTGTCTCCCT	0.617													9	76					0	0	0	0	T	89195491	C	T	89195491	3	4	8	1	0	0	0	0	1	0	0	0	7907	768	27	1	385	1	ISG20	15	89195491	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	5263176	89195491	13335901	455	2323											
WDR90	197335	broad.mit.edu	37	chr16	706411	706411	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacacgctgtcccgggtgtaCcacatgctggctcgctccca	6	8	11	16	3	0	0	0	0	0	0	3	1	2	0	3	2	2	5	3	2	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:706411C>G	ENST00000549091.1	+	18	2168	c.2076C>G	c.(2074-2076)taC>taG	p.Y692*	WDR90_ENST00000293879.4_Nonsense_Mutation_p.Y692*	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	692										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCCGGGTGTACCACATGCTGG	0.697													5	19					0	0	0	0	G	706411	C	G	706411	4	3	8	1	0	0	0	0	0	1	0	0	17433	518	18	4	2146	4	WDR90	16	706411	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08		706411	89648342	456	2324											
RPUSD1	113000	broad.mit.edu	37	chr16	836894	836894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcccgtgttccagaaccacGagatctgtgaggcttggctt	8	10	12	11	2	1	3	0	1	1	2	2	4	2	3	3	2	2	3	3	2	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:836894G>A	ENST00000565809.1	-	4	463	c.341C>T	c.(340-342)tCg>tTg	p.S114L	RPUSD1_ENST00000561734.1_Silent_p.L148L|RPUSD1_ENST00000007264.2_Silent_p.L148L|RPUSD1_ENST00000567114.1_Silent_p.L19L			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	113					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				CCAGAACCACGAGATCTGTGA	0.632													31	95					0	0	0	0	A	836894	G	A	836894	3	1	8	1	0	0	0	0	1	0	0	0	13751	1045	37	1	502	1	RPUSD1	16	836894	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	130483	836894	89517859	457	2325											
TBC1D24	57465	broad.mit.edu	37	chr16	2547031	2547031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagcgttcgccatccgcctCttctcccgcaaggagatcca	9	8	8	16	4	2	1	0	0	2	1	6	2	4	1	5	1	1	2	5	1	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:2547031C>T	ENST00000567020.1	+	2	1022	c.882C>T	c.(880-882)ctC>ctT	p.L294L	RP11-20I23.1_ENST00000564543.1_Silent_p.L294L|TBC1D24_ENST00000293970.5_Silent_p.L294L|TBC1D24_ENST00000434757.2_Silent_p.L294L	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	294					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCATCCGCCTCTTCTCCCGCA	0.597													21	51					0	0	0	0	T	2547031	C	T	2547031	2	4	8	1	0	0	0	0	0	0	0	1	15705	900	32	2		2	TBC1D24	16	2547031	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1710137	2547031	87807722	458	2326											
ACSM2A	123876	broad.mit.edu	37	chr16	20487070	20487070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagacaggactggacatccGagaatcctatggccagacag	13	5	11	12	1	0	3	0	0	0	3	2	6	2	5	4	3	0	0	4	3	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:20487070G>A	ENST00000573854.1	+	8	1187	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	ACSM2A_ENST00000417235.2_Missense_Mutation_p.R279Q|ACSM2A_ENST00000575690.1_Missense_Mutation_p.R358Q|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.R358Q|ACSM2A_ENST00000396104.2_Missense_Mutation_p.R358Q|ACSM2A_ENST00000536134.1_Missense_Mutation_p.R130Q	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	358					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CTGGACATCCGAGAATCCTAT	0.493													27	245					0	0	0	0	A	20487070	G	A	20487070	3	1	8	1	0	0	0	0	1	0	0	0	183	1058	37	1	1099	1	ACSM2A	16	20487070	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	17940039	20487070	69867683	459	2327											
USP31	57478	broad.mit.edu	37	chr16	23113736	23113736	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtttccaggtcgtctgtatCacaaaaggaacgatggaacc	12	10	10	9	2	2	0	1	0	1	0	4	3	3	2	2	3	2	2	2	3	5	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:23113736C>G	ENST00000219689.7	-	6	1137	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	380					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCGTCTGTATCACAAAAGGAA	0.383													29	70					0	0	0	0	G	23113736	C	G	23113736	3	3	8	1	0	0	0	0	1	0	0	0	17158	826	29	2	2964	2	USP31	16	23113736	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2626666	23113736	67241017	460	2328											
KCTD13	253980	broad.mit.edu	37	chr16	29934634	29934634	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacccatcccgcaggtaattGaggattgtaccaaagtgacg	12	8	11	10	2	0	2	0	2	0	0	1	4	1	3	3	2	1	3	3	2	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:29934634G>C	ENST00000568000.1	-	2	1292	c.291C>G	c.(289-291)ctC>ctG	p.L97L	KCTD13_ENST00000568721.1_5'UTR|KCTD13_ENST00000561540.1_Silent_p.L97L	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	97	BTB.				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						GCAGGTAATTGAGGATTGTAC	0.612													8	45					0	0	0	0	C	29934634	G	C	29934634	2	2	8	1	0	0	0	0	0	0	0	1	8153	1277	45	2		2	KCTD13	16	29934634	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	6820898	29934634	60420119	461	2329											
ZNF764	92595	broad.mit.edu	37	chr16	30569449	30569449	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcccccggctccctccactCgggtccggccccgtttgggt	2	8	12	19	4	0	0	0	0	0	0	4	0	3	0	7	4	1	2	7	4	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:30569449C>G	ENST00000395091.2	-	1	370	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	ZNF764_ENST00000252797.2_Missense_Mutation_p.E19Q|AC002310.13_ENST00000568114.1_Missense_Mutation_p.E19Q			Q96H86	ZN764_HUMAN	zinc finger protein 764	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						TCCCTCCACTCGGGTCCGGCC	0.726													11	11					0	0	0	0	G	30569449	C	G	30569449	3	3	8	1	0	0	0	0	1	0	0	0	18232	893	31	3	1183	3	ZNF764	16	30569449	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	634815	30569449	59785304	462	2330											
ZNF629	23361	broad.mit.edu	37	chr16	30793399	30793399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaggacggaagagctCttccccagctctggactctt	8	9	11	13	1	3	1	0	0	3	1	5	5	5	5	3	4	2	2	3	4	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:30793399C>A	ENST00000262525.4	-	3	2457	c.2250G>T	c.(2248-2250)aaG>aaT	p.K750N		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CGGAAGAGCTCTTCCCCAGCT	0.617													36	100					6.05902e-23	6.53281e-23	1	0	A	30793399	C	A	30793399	3	1	8	1	0	0	0	0	1	0	0	0	18148	912	32	2	363	2	ZNF629	16	30793399	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	223950	30793399	59561354	463	2331											
STX4	6810	broad.mit.edu	37	chr16	31049870	31049870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactcgacaggccttaaatGagatctcggcccggcacagt	10	8	11	12	3	1	2	0	2	1	1	3	4	1	2	2	3	0	1	2	3	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:31049870G>A	ENST00000394998.1	+	9	941	c.598G>A	c.(598-600)Gag>Aag	p.E200K	STX4_ENST00000313843.3_Missense_Mutation_p.E202K|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	202	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology.				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GGCCTTAAATGAGATCTCGGC	0.552													20	55					0	0	0	0	A	31049870	G	A	31049870	3	1	8	1	0	0	0	0	1	0	0	0	15437	1291	45	2	634	2	STX4	16	31049870	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	256471	31049870	59304883	464	2332											
PYCARD	29108	broad.mit.edu	37	chr16	31213912	31213912	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgggatgcgcccgtagccctCgcgcagcggcaccgacagca	7	3	14	17	7	0	0	0	0	0	0	1	2	0	1	3	2	4	4	3	2	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:31213912C>G	ENST00000247470.9	-	1	401	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	C16orf98_ENST00000561916.2_Silent_p.L46L|PYCARD_ENST00000350605.4_Missense_Mutation_p.E34Q	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	34	DAPIN.				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding	p.E34K(1)		NS(1)|kidney(1)	2						CCGTAGCCCTCGCGCAGCGGC	0.677													20	31					0	0	0	0	G	31213912	C	G	31213912	3	3	8	1	0	0	0	0	1	0	0	0	12936	893	31	3	499	3	PYCARD	16	31213912	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	164042	31213912	59140841	465	2333											
NKD1	85407	broad.mit.edu	37	chr16	50666202	50666202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgccgtaggttccagggtGacagccgcctggagcagtct	6	8	14	13	2	1	1	0	1	1	0	2	2	2	2	5	3	3	3	5	3	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:50666202G>A	ENST00000268459.3	+	9	930	c.706G>A	c.(706-708)Gac>Aac	p.D236N		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	236					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GTTCCAGGGTGACAGCCGCCT	0.557													16	38					0	0	0	0	A	50666202	G	A	50666202	3	1	8	1	0	0	0	0	1	0	0	0	10511	1290	45	2	740	2	NKD1	16	50666202	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	19452290	50666202	39688551	466	2334											
CCDC135	84229	broad.mit.edu	37	chr16	57761225	57761225	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcaggtgctggagattctGaagcttcgagaggaagagga	11	10	15	5	1	2	4	1	1	1	3	3	8	2	6	0	4	2	2	0	4	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:57761225G>A	ENST00000360716.3	+	16	2321	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	CCDC135_ENST00000336825.8_Silent_p.L635L|CCDC135_ENST00000394337.4_Silent_p.L700L			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	700						cytoplasm		p.L700L(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGGAGATTCTGAAGCTTCGAG	0.552													44	111					0	0	0	0	A	57761225	G	A	57761225	2	1	8	1	0	0	0	0	0	0	0	1	2794	1277	45	2		2	CCDC135	16	57761225	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	7095023	57761225	32593528	467	2335											
CES2	8824	broad.mit.edu	37	chr16	66975679	66975679	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggccatccaggtcatgagGatctatgatacccagaagga	12	8	11	10	0	2	3	1	2	1	1	3	5	3	5	3	4	1	0	3	4	3	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:66975679G>A	ENST00000317091.4	+	8	2241	c.1257G>A	c.(1255-1257)agG>agA	p.R419R	CES2_ENST00000417689.1_Silent_p.R419R	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	355					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		AGGTCATGAGGATCTATGATA	0.572													62	177					0	0	0	0	A	66975679	G	A	66975679	2	1	8	1	0	0	0	0	0	0	0	1	3299	1165	41	2		2	CES2	16	66975679	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	9214454	66975679	23379074	468	2336											
HSD11B2	3291	broad.mit.edu	37	chr16	67469873	67469873	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccaggcctgtggggcctCgtcaacaacgcaggccacaa	10	4	11	16	2	1	0	1	0	0	0	2	0	1	0	5	4	2	1	5	4	3	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:67469873C>T	ENST00000326152.5	+	3	624	c.492C>T	c.(490-492)ctC>ctT	p.L164L	HSD11B2_ENST00000567684.2_3'UTR	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	164					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	TGTGGGGCCTCGTCAACAACG	0.602													22	78					0	0	0	0	T	67469873	C	T	67469873	2	4	8	1	0	0	0	0	0	0	0	1	7427	871	31	1		1	HSD11B2	16	67469873	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	494194	67469873	22884880	469	2337											
AGRP	181	broad.mit.edu	37	chr16	67516684	67516684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcagccttacgcagcgaCgtgaggagcggggctcgcgg	7	5	17	12	6	0	1	0	1	0	0	1	3	0	2	1	4	5	3	1	4	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:67516684C>T	ENST00000290953.2	-	4	553	c.254G>A	c.(253-255)cGt>cAt	p.R85H	RP11-297D21.4_ENST00000602596.1_RNA	NM_001138.1	NP_001129.1	O00253	AGRP_HUMAN	agouti related protein homolog (mouse)	85					hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity			endometrium(1)	1		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		TACGCAGCGACGTGAGGAGCG	0.602													19	72					0	0	0	0	T	67516684	C	T	67516684	3	4	8	1	0	0	0	0	1	0	0	0	398	536	19	1	148	1	AGRP	16	67516684	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	46811	67516684	22838069	470	2338											
NFATC3	4775	broad.mit.edu	37	chr16	68160439	68160439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgcaacctaaaactcatCatcgagcccattatgaaact	16	9	5	11	1	2	1	2	1	0	0	3	2	2	1	2	0	5	1	2	0	6	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:68160439C>T	ENST00000349223.5	+	3	1551	c.1327C>T	c.(1327-1329)Cat>Tat	p.H443Y	NFATC3_ENST00000575270.1_Missense_Mutation_p.H443Y|NFATC3_ENST00000346183.3_Missense_Mutation_p.H443Y|NFATC3_ENST00000329524.4_Missense_Mutation_p.H443Y|NFATC3_ENST00000535127.2_3'UTR	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	443	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TAAAACTCATCATCGAGCCCA	0.433													33	71					0	0	0	0	T	68160439	C	T	68160439	3	4	8	1	0	0	0	0	1	0	0	0	10434	826	29	2	1337	2	NFATC3	16	68160439	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	643755	68160439	22194314	471	2339											
ZFP1	162239	broad.mit.edu	37	chr16	75203755	75203755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggaatgtggaaaagctttCacccaccagtcaaacctcat	13	8	7	13	1	3	0	3	0	0	0	3	2	3	2	4	2	2	1	4	2	4	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:75203755C>T	ENST00000393430.2	+	4	871	c.747C>T	c.(745-747)ttC>ttT	p.F249F	ZFP1_ENST00000570010.1_Silent_p.F249F|ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Silent_p.F216F			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						GAAAAGCTTTCACCCACCAGT	0.443													28	59					0	0	0	0	T	75203755	C	T	75203755	2	4	8	1	0	0	0	0	0	0	0	1	17731	825	29	2		2	ZFP1	16	75203755	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7043316	75203755	15150998	472	2340											
PKD1L2	114780	broad.mit.edu	37	chr16	81145966	81145966	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggctgctgctgtctcactGaagctgatgcctctgtggga	5	12	13	11	1	2	2	1	2	2	0	4	3	2	3	1	2	4	4	1	2	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:81145966G>A	ENST00000525539.1	-	0	6784				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGTCTCACTGAAGCTGATGC	0.532													19	38					0	0	0	0	A	81145966	G	A	81145966	1	1	8	0	1	0	0	0	0	0	0	0	12037	1281	45	2		2	PKD1L2	16	81145966	RNA	SNP	G	TCGA-BA-5152-01A-02D-1870-08	5942211	81145966	9208787	473	2341											
TRAPPC2L	51693	broad.mit.edu	37	chr16	88925146	88925146	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatggggaaggccctggtCgaccagagggagctgtacct	9	6	16	10	1	0	1	0	0	0	1	1	4	0	3	3	5	2	3	3	5	3	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:88925146C>A	ENST00000561840.1	+	2	113	c.35C>A	c.(34-36)tCg>tAg	p.S12*	TRAPPC2L_ENST00000565504.1_Silent_p.V51V|TRAPPC2L_ENST00000568583.1_Silent_p.V51V|TRAPPC2L_ENST00000567895.1_Silent_p.V21V|TRAPPC2L_ENST00000564365.1_5'UTR|TRAPPC2L_ENST00000567312.1_Silent_p.V51V|TRAPPC2L_ENST00000301021.3_Silent_p.V51V			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	0					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm				lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		AGGCCCTGGTCGACCAGAGGG	0.577													15	51					0.00316338	0.00321722	1	0	A	88925146	C	A	88925146	4	1	8	1	0	0	0	0	0	1	0	0	16554	871	31	3	159	3	TRAPPC2L	16	88925146	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7779180	88925146	1429607	474	2342											
ABR	29	broad.mit.edu	37	chr17	960284	960284	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtgtacagtcctaagcttGaaacaggatcctgtgagcac	11	11	10	9	0	0	2	0	2	0	0	2	3	2	3	2	1	4	3	2	1	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:960284G>C	ENST00000544583.2	-	13	1901	c.1302C>G	c.(1300-1302)ttC>ttG	p.F434L	ABR_ENST00000302538.5_Missense_Mutation_p.F480L|ABR_ENST00000573895.1_5'UTR|ABR_ENST00000536794.2_Missense_Mutation_p.F262L|ABR_ENST00000574437.1_Missense_Mutation_p.F434L|ABR_ENST00000291107.2_Missense_Mutation_p.F443L	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	480	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCCTAAGCTTGAAACAGGATC	0.582													82	118					0	0	0	0	C	960284	G	C	960284	3	2	8	1	0	0	0	0	1	0	0	0	99	1281	45	2	1183	2	ABR	17	960284	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08		960284	80234926	475	2343											
TMEM95	339168	broad.mit.edu	37	chr17	7259355	7259355	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcatttcagctctctgTccccccgcctgccgtgagta	4	14	7	16	2	4	1	2	1	2	0	6	1	5	1	5	0	2	2	5	0	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:7259355T>C	ENST00000389982.4	+	4	397	c.315T>C	c.(313-315)tgT>tgC	p.C105C	TMEM95_ENST00000330767.4_Silent_p.C105C|TMEM95_ENST00000576060.1_Silent_p.C105C			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	105						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CAGCTCTCTGTCCCCCCGCCT	0.592											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	104					0	0	0	0	C	7259355	T	C	7259355	2	2	8	1	0	0	0	0	0	0	0	1	16317	1673	58	5		5	TMEM95	17	7259355	Silent	SNP	T	TCGA-BA-5152-01A-02D-1870-08	6299071	7259355	73935855	476	2344											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			43	59					0	0	0	0	T	7577548	C	T	7577548	3	4	8	1	0	0	0	0	1	0	0	0	16476	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	318193	7577548	73617662	477	2345											
MYH13	8735	broad.mit.edu	37	chr17	10206785	10206785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcagctcccctcttctgttCcacatcaagctcattttcca	7	15	3	16	0	5	0	3	0	2	0	8	0	8	0	4	0	2	3	4	0	1	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:10206785C>T	ENST00000418404.3	-	37	5660	c.5497G>A	c.(5497-5499)Gaa>Aaa	p.E1833K	MYH13_ENST00000570743.1_Missense_Mutation_p.E1833K|MYH13_ENST00000252172.4_Missense_Mutation_p.E1833K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1833					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCTTCTGTTCCACATCAAGC	0.517													74	106					0	0	0	0	T	10206785	C	T	10206785	3	4	8	1	0	0	0	0	1	0	0	0	10102	864	30	2	335	2	MYH13	17	10206785	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2629237	10206785	70988425	478	2346											
LRRC48	83450	broad.mit.edu	37	chr17	17898417	17898417	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcctggtgtcggtgagctCcttgagacatatccttctga	6	13	11	11	1	1	3	0	3	1	1	4	4	3	3	3	2	2	1	3	2	1	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:17898417C>A	ENST00000313838.8	+	9	1195	c.816C>A	c.(814-816)ctC>ctA	p.L272L	LRRC48_ENST00000399187.1_Silent_p.L272L|LRRC48_ENST00000411504.2_Silent_p.L272L|LRRC48_ENST00000584166.1_Silent_p.L272L|LRRC48_ENST00000399182.1_Silent_p.L272L	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	272						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCGGTGAGCTCCTTGAGACAT	0.547													25	21					3.7963e-18	4.06869e-18	1	0	A	17898417	C	A	17898417	2	1	8	1	0	0	0	0	0	0	0	1	9069	842	30	2		2	LRRC48	17	17898417	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7691632	17898417	63296793	479	2347											
MAP2K3	5606	broad.mit.edu	37	chr17	21208407	21208407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccagaagggctacaatgtCaagtccgacgtctggagcct	12	7	11	11	2	2	1	1	0	1	1	3	3	3	2	3	2	3	1	3	2	5	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:21208407C>T	ENST00000342679.4	+	9	990	c.741C>T	c.(739-741)gtC>gtT	p.V247V	MAP2K3_ENST00000316920.6_Silent_p.V218V|MAP2K3_ENST00000361818.5_Silent_p.V218V	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	247	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCTACAATGTCAAGTCCGACG	0.647													25	125					0	0	0	0	T	21208407	C	T	21208407	2	4	8	1	0	0	0	0	0	0	0	1	9307	813	29	2		2	MAP2K3	17	21208407	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3309990	21208407	59986803	480	2348											
ATAD5	79915	broad.mit.edu	37	chr17	29220740	29220740	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaacaatccagagacaaaGaaatctattccttgtcctcc	15	9	6	11	0	1	2	0	0	1	2	5	4	5	3	4	1	1	0	4	1	5	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:29220740G>A	ENST00000321990.4	+	21	5247	c.4869G>A	c.(4867-4869)aaG>aaA	p.K1623K		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1623					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CAGAGACAAAGAAATCTATTC	0.393													61	101					0	0	0	0	A	29220740	G	A	29220740	2	1	8	1	0	0	0	0	0	0	0	1	1080	933	33	2		2	ATAD5	17	29220740	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	8012333	29220740	51974470	481	2349											
C17orf75	64149	broad.mit.edu	37	chr17	30661853	30661853	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttcaacaggagtgtaactCaaagcctatgagagaaaaat	18	8	8	7	0	2	2	2	1	0	1	2	4	2	3	1	1	3	1	1	1	6	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:30661853C>G	ENST00000577809.1	-	7	724	c.675G>C	c.(673-675)ttG>ttC	p.L225F	C17orf75_ENST00000225805.4_Missense_Mutation_p.L225F|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	225					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGTGTAACTCAAAGCCTATG	0.363													10	21					0	0	0	0	G	30661853	C	G	30661853	3	3	8	1	0	0	0	0	1	0	0	0	1896	825	29	2	531	2	C17orf75	17	30661853	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1441113	30661853	50533357	482	2350											
C17orf75	64149	broad.mit.edu	37	chr17	30662447	30662447	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agataggattttatgtgactCtccaggccccttgcctaaat	10	13	8	10	0	1	2	0	1	1	1	2	3	1	3	4	2	1	0	4	2	4	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:30662447C>G	ENST00000577809.1	-	6	613	c.564G>C	c.(562-564)gaG>gaC	p.E188D	C17orf75_ENST00000225805.4_Missense_Mutation_p.E188D|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	188					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTATGTGACTCTCCAGGCCCC	0.398													27	150					0	0	0	0	G	30662447	C	G	30662447	3	3	8	1	0	0	0	0	1	0	0	0	1896	912	32	2	646	2	C17orf75	17	30662447	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	594	30662447	50532763	483	2351											
LIG3	3980	broad.mit.edu	37	chr17	33316674	33316674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacttccttcggaaaggctCagcaggaggtgtggcatgag	9	8	16	8	1	1	1	1	1	0	0	3	4	2	4	1	6	1	3	1	6	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:33316674C>T	ENST00000378526.4	+	4	1014	c.881C>T	c.(880-882)tCa>tTa	p.S294L	LIG3_ENST00000262327.5_Missense_Mutation_p.S294L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	294					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CGGAAAGGCTCAGCAGGAGGT	0.552								Other BER factors					21	98					0	0	0	0	T	33316674	C	T	33316674	3	4	8	1	0	0	0	0	1	0	0	0	8836	838	29	2	891	2	LIG3	17	33316674	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2654227	33316674	47878536	484	2352											
PLXDC1	57125	broad.mit.edu	37	chr17	37264415	37264415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagttgtcggagtagcCagggttgaagttggccatca	8	11	16	6	1	1	1	1	1	0	0	2	3	1	3	2	4	1	4	2	4	2	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:37264415C>T	ENST00000315392.4	-	5	764	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	PLXDC1_ENST00000539608.1_Missense_Mutation_p.G112S|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.G145S|PLXDC1_ENST00000394316.2_Missense_Mutation_p.G185S	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	185					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCGGAGTAGCCAGGGTTGAAG	0.522													51	107					0	0	0	0	T	37264415	C	T	37264415	3	4	8	1	0	0	0	0	1	0	0	0	12189	594	21	4	989	4	PLXDC1	17	37264415	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3947741	37264415	43930795	485	2353											
MSL1	339287	broad.mit.edu	37	chr17	38285648	38285648	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtttgtaaacgtgaattGaggagccaagaaaccccaga	15	8	10	8	1	0	4	0	2	0	2	0	5	0	5	3	1	3	2	3	1	5	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:38285648G>C	ENST00000398532.3	+	3	1458	c.1143G>C	c.(1141-1143)ttG>ttC	p.L381F	MSL1_ENST00000578648.1_Missense_Mutation_p.L381F|MSL1_ENST00000579565.1_Missense_Mutation_p.L118F|MSL1_ENST00000577454.1_Missense_Mutation_p.L381F			Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	381					histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						AACGTGAATTGAGGAGCCAAG	0.473													19	109					0	0	0	0	C	38285648	G	C	38285648	3	2	8	1	0	0	0	0	1	0	0	0	9947	1281	45	2	360	2	MSL1	17	38285648	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1021233	38285648	42909562	486	2354											
TOP2A	7153	broad.mit.edu	37	chr17	38567942	38567942	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctaatttgctgaaagccTttttcactcatagttaaaca	14	14	5	8	0	2	1	2	1	0	0	2	1	2	1	1	0	4	3	1	0	6	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:38567942T>C	ENST00000423485.1	-	8	1076	c.918A>G	c.(916-918)aaA>aaG	p.K306K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	306					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GCTGAAAGCCTTTTTCACTCA	0.318													3	93					0	0	0	0	C	38567942	T	C	38567942	2	2	8	1	0	0	0	0	0	0	0	1	16460	1606	56	5		5	TOP2A	17	38567942	Silent	SNP	T	TCGA-BA-5152-01A-02D-1870-08	282294	38567942	42627268	487	2355											
DHX8	1659	broad.mit.edu	37	chr17	41599574	41599574	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccatccttccagtgccctCttcaacagacagccagaatg	11	9	6	15	0	2	2	1	0	1	2	5	2	5	2	5	0	3	0	5	0	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:41599574C>T	ENST00000262415.3	+	22	3495	c.3423C>T	c.(3421-3423)ctC>ctT	p.L1141L	DHX8_ENST00000540306.1_Silent_p.L1141L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1141						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCAGTGCCCTCTTCAACAGAC	0.512													14	57					0	0	0	0	T	41599574	C	T	41599574	2	4	8	1	0	0	0	0	0	0	0	1	4552	900	32	2		2	DHX8	17	41599574	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3031632	41599574	39595636	488	2356											
PLEKHM1	9842	broad.mit.edu	37	chr17	43517535	43517535	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catgacactcttacctgttgGaggtcagcaacactgaacct	11	10	8	12	0	2	2	1	2	1	0	2	3	2	3	2	2	4	2	2	2	3	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:43517535G>A	ENST00000430334.3	-	10	3028	c.2895C>T	c.(2893-2895)ctC>ctT	p.L965L	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Silent_p.L876L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	965					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TTACCTGTTGGAGGTCAGCAA	0.473													16	105					0	0	0	0	A	43517535	G	A	43517535	2	1	8	1	0	0	0	0	0	0	0	1	12152	1161	41	2		2	PLEKHM1	17	43517535	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1917961	43517535	37677675	489	2357											
LPO	4025	broad.mit.edu	37	chr17	56342211	56342211	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcaccttcgccttccgCtttggccacttggaggtccc	3	13	9	16	2	2	0	1	0	1	0	5	1	4	1	5	3	0	1	5	3	0	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:56342211C>G	ENST00000262290.4	+	10	1711	c.1395C>G	c.(1393-1395)cgC>cgG	p.R465R	LPO_ENST00000421678.2_Silent_p.R382R|LPO_ENST00000543544.1_Silent_p.R406R|LPO_ENST00000582328.1_Silent_p.R382R	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	465					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCGCCTTCCGCTTTGGCCACT	0.517													15	103					0	0	0	0	G	56342211	C	G	56342211	2	3	8	1	0	0	0	0	0	0	0	1	8986	784	28	4		4	LPO	17	56342211	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	12824676	56342211	24852999	490	2358											
RNF43	54894	broad.mit.edu	37	chr17	56440747	56440747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaacaccactggccaggtCagccccagcggctgctgcag	9	5	11	16	1	2	0	2	0	0	0	2	0	2	0	4	3	5	3	4	3	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:56440747C>T	ENST00000584437.1	-	4	2426	c.471G>A	c.(469-471)ctG>ctA	p.L157L	RNF43_ENST00000407977.2_Silent_p.L157L|RNF43_ENST00000577716.1_Silent_p.L157L|RNF43_ENST00000577625.1_Silent_p.L30L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Silent_p.L30L|RNF43_ENST00000583753.1_Silent_p.L116L|RNF43_ENST00000500597.2_Silent_p.L116L			Q68DV7	RNF43_HUMAN	ring finger protein 43	157						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGCCAGGTCAGCCCCAGCG	0.567													17	165					0	0	0	0	T	56440747	C	T	56440747	2	4	8	1	0	0	0	0	0	0	0	1	13580	813	29	2		2	RNF43	17	56440747	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	98536	56440747	24754463	491	2359											
KPNA2	3838	broad.mit.edu	37	chr17	66033573	66033573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtaagctcatttcctgatGatgctacttctccgctgcag	8	14	8	11	1	2	2	1	2	1	0	4	2	3	2	2	0	4	5	2	0	2	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:66033573G>A	ENST00000537025.2	+	3	795	c.175G>A	c.(175-177)Gat>Aat	p.D59N	KPNA2_ENST00000330459.3_Missense_Mutation_p.D59N			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	59	IBB.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTTCCTGATGATGCTACTTC	0.423													65	78					0	0	0	0	A	66033573	G	A	66033573	3	1	8	1	0	0	0	0	1	0	0	0	8482	1290	45	2	181	2	KPNA2	17	66033573	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	9592826	66033573	15161637	492	2360											
ABCA10	10349	broad.mit.edu	37	chr17	67150091	67150091	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgagggcagtaccccaaGaacttgaggctgttgtcatg	9	10	12	10	0	1	3	1	2	0	1	2	3	2	3	3	2	2	4	3	2	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:67150091G>A	ENST00000269081.4	-	33	4755	c.3846C>T	c.(3844-3846)ttC>ttT	p.F1282F	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1282	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGTACCCCAAGAACTTGAGGC	0.478													27	124					0	0	0	0	A	67150091	G	A	67150091	2	1	8	1	0	0	0	0	0	0	0	1	29	933	33	2		2	ABCA10	17	67150091	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1116518	67150091	14045119	493	2361											
FAM104A	84923	broad.mit.edu	37	chr17	71228289	71228289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgcggcgccgctccgcgaaGagagggaacagagggggttg	9	3	19	10	6	0	2	0	0	0	2	1	5	1	3	2	4	1	2	2	4	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:71228289G>A	ENST00000405159.3	-	1	221	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F	FAM104A_ENST00000581110.1_Missense_Mutation_p.L53F|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000403627.3_Missense_Mutation_p.L53F|FAM104A_ENST00000583024.1_Missense_Mutation_p.L53F	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	53										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GCTCCGCGAAGAGAGGGAACA	0.701													4	32					0	0	0	0	A	71228289	G	A	71228289	3	1	8	1	0	0	0	0	1	0	0	0	5426	942	33	2	482	2	FAM104A	17	71228289	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	4078198	71228289	9966921	494	2362											
CD300A	11314	broad.mit.edu	37	chr17	72469964	72469964	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggtggatacaccatggctCcgagactttcatgatcccgt	8	10	12	11	2	1	2	1	1	0	1	3	4	3	3	3	4	1	1	3	4	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:72469964C>T	ENST00000360141.3	+	2	618	c.330C>T	c.(328-330)ctC>ctT	p.L110L	CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	110	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CACCATGGCTCCGAGACTTTC	0.562													12	109					0	0	0	0	T	72469964	C	T	72469964	2	4	8	1	0	0	0	0	0	0	0	1	3025	842	30	2		2	CD300A	17	72469964	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1241675	72469964	8725246	495	2363											
GALR2	8811	broad.mit.edu	37	chr17	74071153	74071153	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcagcactaccaacctgttCatccttaacctgggcgtggc	8	10	9	14	1	2	0	2	0	0	0	3	0	3	0	4	2	4	2	4	2	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:74071153C>T	ENST00000329003.3	+	1	279	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	63					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CCAACCTGTTCATCCTTAACC	0.652													11	70					0	0	0	0	T	74071153	C	T	74071153	2	4	8	1	0	0	0	0	0	0	0	1	6277	825	29	2		2	GALR2	17	74071153	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1601189	74071153	7124057	496	2364											
GALR2	8811	broad.mit.edu	37	chr17	74071276	74071276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaaggcggtgcacttcctCatcttcctcaccatgcacgc	7	10	8	16	2	3	0	2	0	1	0	5	0	5	0	3	2	3	3	3	2	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:74071276C>T	ENST00000329003.3	+	1	402	c.312C>T	c.(310-312)ctC>ctT	p.L104L		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	104					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TGCACTTCCTCATCTTCCTCA	0.647													14	70					0	0	0	0	T	74071276	C	T	74071276	2	4	8	1	0	0	0	0	0	0	0	1	6277	813	29	2		2	GALR2	17	74071276	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	123	74071276	7123934	497	2365											
ZACN	353174	broad.mit.edu	37	chr17	74077658	74077658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacacggcgctcaagtccatCatcgctctcttggtgcctgc	7	10	9	15	3	3	0	2	0	1	0	6	0	4	0	2	2	3	2	2	2	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:74077658C>G	ENST00000334586.5	+	7	785	c.702C>G	c.(700-702)atC>atG	p.I234M	EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	234	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						TCAAGTCCATCATCGCTCTCT	0.642													4	175					0	0	0	0	G	74077658	C	G	74077658	3	3	8	1	0	0	0	0	1	0	0	0	17606	816	29	2	728	2	ZACN	17	74077658	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	6382	74077658	7117552	498	2366											
RHBDF2	79651	broad.mit.edu	37	chr17	74475233	74475233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctggctggggagctcCaggtcacgctggcacgaggc	5	6	16	14	2	1	0	1	0	0	0	3	2	3	1	3	6	1	4	3	6	0	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:74475233C>T	ENST00000591885.1	-	5	949	c.399G>A	c.(397-399)ctG>ctA	p.L133L	RHBDF2_ENST00000592378.1_5'UTR|RHBDF2_ENST00000389760.4_Silent_p.L133L|RHBDF2_ENST00000313080.4_Silent_p.L162L			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	162					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGGGGAGCTCCAGGTCACGCT	0.692													11	77					0	0	0	0	T	74475233	C	T	74475233	2	4	8	1	0	0	0	0	0	0	0	1	13403	581	21	4		4	RHBDF2	17	74475233	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	397575	74475233	6719977	499	2367											
SEPT9	10801	broad.mit.edu	37	chr17	75398526	75398526	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaggacggagatcaccatCgtcaaaccccaggagtcagc	12	4	12	13	3	3	1	3	0	0	1	4	5	3	4	3	4	2	0	3	4	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:75398526C>T	ENST00000329047.8	+	2	1220	c.408C>T	c.(406-408)atC>atT	p.I136I	SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000590294.1_Silent_p.I136I|SEPT9_ENST00000427177.1_Silent_p.I154I|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000591198.1_Silent_p.I135I|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000423034.2_Silent_p.I147I	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	154					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			AGATCACCATCGTCAAACCCC	0.706													8	13					0	0	0	0	T	75398526	C	T	75398526	2	4	8	1	0	0	0	0	0	0	0	1	14158	874	31	1		1	SEPT9	17	75398526	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	923293	75398526	5796684	500	2368											
NPTX1	4884	broad.mit.edu	37	chr17	78449452	78449452	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacctgcctctccagctcatCgatcttgctctgcagcagat	7	11	7	16	1	4	1	1	0	3	1	6	2	4	1	3	0	5	4	3	0	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:78449452C>G	ENST00000306773.4	-	2	668	c.511G>C	c.(511-513)Gat>Cat	p.D171H	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	171					central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TCCAGCTCATCGATCTTGCTC	0.637													17	48					0	0	0	0	G	78449452	C	G	78449452	3	3	8	1	0	0	0	0	1	0	0	0	10673	884	31	3	803	3	NPTX1	17	78449452	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3050926	78449452	2745758	501	2369											
AATK	9625	broad.mit.edu	37	chr17	79094803	79094803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgagggaggtggagagcCgtgtctcgggcccggggccc	5	5	19	12	3	1	2	0	1	1	1	2	4	1	3	3	6	1	0	3	6	0	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:79094803C>T	ENST00000326724.4	-	11	2957	c.2933G>A	c.(2932-2934)cGg>cAg	p.R978Q	AATK_ENST00000417379.1_Missense_Mutation_p.R875Q	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	978						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGTGGAGAGCCGTGTCTCGGG	0.652													4	24					0	0	0	0	T	79094803	C	T	79094803	3	4	8	1	0	0	0	0	1	0	0	0	26	652	23	1	1207	1	AATK	17	79094803	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	645351	79094803	2100407	502	2370											
FASN	2194	broad.mit.edu	37	chr17	80054216	80054216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccttccagcgacggtcatCgtccgtgaccatgtccacac	7	8	9	17	5	1	1	1	1	0	0	5	2	4	1	5	1	1	0	5	1	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:80054216C>T	ENST00000306749.2	-	2	324	c.106G>A	c.(106-108)Gat>Aat	p.D36N		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	36	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CGACGGTCATCGTCCGTGACC	0.632													12	92					0	0	0	0	T	80054216	C	T	80054216	3	4	8	1	0	0	0	0	1	0	0	0	5728	884	31	1	7597	1	FASN	17	80054216	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	959413	80054216	1140994	503	2371											
CCDC57	284001	broad.mit.edu	37	chr17	80141798	80141798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agattttacagttgatgcatCttcacgaagtctaaacatag	14	13	7	7	1	3	2	1	1	2	1	3	3	3	2	0	0	3	2	0	0	5	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:80141798C>T	ENST00000389641.4	-	8	1099	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	CCDC57_ENST00000392343.3_Missense_Mutation_p.D355N|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Missense_Mutation_p.D355N			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	355										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTTGATGCATCTTCACGAAGT	0.453													24	32					0	0	0	0	T	80141798	C	T	80141798	3	4	8	1	0	0	0	0	1	0	0	0	2854	913	32	2	1724	2	CCDC57	17	80141798	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	87582	80141798	1053412	504	2372											
LRRC30	339291	broad.mit.edu	37	chr18	7232012	7232012	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggggcctggagatgctcttCggctacctgaaggacaaaaa	11	7	14	9	1	1	2	0	1	1	1	2	4	1	3	2	5	2	2	2	5	4	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:7232012C>G	ENST00000383467.2	+	1	890	c.876C>G	c.(874-876)ttC>ttG	p.F292L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	292								p.F292F(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGATGCTCTTCGGCTACCTGA	0.587													66	137					0	0	0	0	G	7232012	C	G	7232012	3	3	8	1	0	0	0	0	1	0	0	0	9049	883	31	3	878	3	LRRC30	18	7232012	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08		7232012	70845236	505	2373											
ROCK1	6093	broad.mit.edu	37	chr18	18566941	18566941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcctttctttatttccagtCaaatgttctagtttctgctg	7	20	5	9	0	4	0	1	0	3	0	6	0	6	0	2	0	1	3	2	0	3	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:18566941C>G	ENST00000399799.1	-	19	3214	c.2274G>C	c.(2272-2274)ttG>ttC	p.L758F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	758	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TATTTCCAGTCAAATGTTCTA	0.368													8	111					0	0	0	0	G	18566941	C	G	18566941	3	3	8	1	0	0	0	0	1	0	0	0	13602	825	29	2	1850	2	ROCK1	18	18566941	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	11334929	18566941	59510307	506	2374											
ROCK1	6093	broad.mit.edu	37	chr18	18586476	18586476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggactctaactgactaattGacttgctcatctctgtgtga	9	14	9	9	0	3	3	1	3	2	0	4	4	3	4	0	1	2	1	0	1	2	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:18586476G>A	ENST00000399799.1	-	16	2661	c.1721C>T	c.(1720-1722)tCa>tTa	p.S574L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	574	Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTGACTAATTGACTTGCTCAT	0.383													44	121					0	0	0	0	A	18586476	G	A	18586476	3	1	8	1	0	0	0	0	1	0	0	0	13602	1294	45	2	2415	2	ROCK1	18	18586476	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	19535	18586476	59490772	507	2375											
ZNF521	25925	broad.mit.edu	37	chr18	22805754	22805754	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgtccagcaggtgtttctGaaggtcatccactgatgtga	9	12	11	9	0	2	3	1	3	1	0	4	3	4	3	2	2	1	2	2	2	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:22805754G>A	ENST00000361524.3	-	4	2276	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.Q490*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.Q710*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	710					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGGTGTTTCTGAAGGTCATCC	0.443			T	PAX5	ALL								24	101					0	0	0	0	A	22805754	G	A	22805754	4	1	8	1	0	0	0	0	0	1	0	0	18060	1299	45	2	1827	2	ZNF521	18	22805754	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	4219278	22805754	55271494	508	2376											
KATNAL2	83473	broad.mit.edu	37	chr18	44595607	44595607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagtatccacagctatttaCaggaattctttctccctgga	10	15	6	10	0	2	0	0	0	2	0	4	2	3	2	2	2	2	2	2	2	5	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:44595607C>T	ENST00000245121.5	+	9	820	c.626C>T	c.(625-627)aCa>aTa	p.T209I	KATNAL2_ENST00000356157.7_Missense_Mutation_p.T281I|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	281						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CAGCTATTTACAGGAATTCTT	0.463													25	94					0	0	0	0	T	44595607	C	T	44595607	3	4	8	1	0	0	0	0	1	0	0	0	8039	478	17	4	656	4	KATNAL2	18	44595607	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	21789853	44595607	33481641	509	2377											
CTDP1	9150	broad.mit.edu	37	chr18	77474881	77474881	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagtcctcctcctccgcctCtgatggcgaaagcgagggga	8	7	13	13	3	1	1	0	1	1	0	5	5	5	2	5	3	1	0	5	3	2	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:77474881C>G	ENST00000299543.7	+	8	1568	c.1421C>G	c.(1420-1422)tCt>tGt	p.S474C	CTDP1_ENST00000075430.7_Missense_Mutation_p.S474C	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	474	Ser-rich.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TCCTCCGCCTCTGATGGCGAA	0.677													2	4					0	0	0	0	G	77474881	C	G	77474881	3	3	8	1	0	0	0	0	1	0	0	0	4034	913	32	2	1451	2	CTDP1	18	77474881	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	32879274	77474881	602367	510	2378											
SHC2	25759	broad.mit.edu	37	chr19	422154	422154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcacagcttaccacgccctCggggtccacgagcagcaggt	8	6	12	15	3	0	0	0	0	0	0	2	1	1	0	3	3	5	4	3	3	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:422154C>T	ENST00000264554.6	-	11	1611	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	538	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ACCACGCCCTCGGGGTCCACG	0.687													5	10					0	0	0	0	T	422154	C	T	422154	3	4	8	1	0	0	0	0	1	0	0	0	14359	893	31	1	144	1	SHC2	19	422154	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08		422154	58706829	511	2379											
POLRMT	5442	broad.mit.edu	37	chr19	621366	621366	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagaggcggtacagcgcctCcgcccgcaggctgtgcatct	6	6	14	15	5	1	1	0	0	1	1	2	2	2	1	3	3	3	4	3	3	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:621366C>A	ENST00000588649.2	-	10	2416	c.2332G>T	c.(2332-2334)Gag>Tag	p.E778*		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	778					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TACAGCGCCTCCGCCCGCAGG	0.746													4	10					0.00909568	0.0092113	1	0	A	621366	C	A	621366	4	1	8	1	0	0	0	0	0	1	0	0	12310	864	30	2	1408	2	POLRMT	19	621366	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	199212	621366	58507617	512	2380											
MEX3D	399664	broad.mit.edu	37	chr19	1556393	1556393	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtcgtccctggttgggggtCttggcccagaggctggcggc	2	9	18	12	3	1	1	0	0	1	1	3	1	2	1	2	7	0	2	2	7	0	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:1556393C>G	ENST00000402693.4	-	2	1124	c.1125G>C	c.(1123-1125)aaG>aaC	p.K375N	MEX3D_ENST00000388824.6_Missense_Mutation_p.K375N	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	375					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		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)		GGTTGGGGGTCTTGGCCCAGA	0.776													3	9					0	0	0	0	G	1556393	C	G	1556393	3	3	8	1	0	0	0	0	1	0	0	0	9581	912	32	2	897	2	MEX3D	19	1556393	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	935027	1556393	57572590	513	2381											
TCF3	6929	broad.mit.edu	37	chr19	1621849	1621849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccatacccaggaggctgtCggccccgctgacaggcggcg	6	4	16	15	4	0	1	0	1	0	0	1	2	0	2	4	6	1	2	4	6	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:1621849C>T	ENST00000262965.5	-	11	1287	c.943G>A	c.(943-945)Gac>Aac	p.D315N	TCF3_ENST00000588136.1_Missense_Mutation_p.D315N|TCF3_ENST00000453954.2_Missense_Mutation_p.D231N|TCF3_ENST00000395423.3_Missense_Mutation_p.D264N|TCF3_ENST00000344749.5_Missense_Mutation_p.D315N	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	315					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		AGGAGGCTGTCGGCCCCGCTG	0.711			T	"PBX1, HLF, TFPT"	pre B-ALL								3	14					0	0	0	0	T	1621849	C	T	1621849	3	4	8	1	0	0	0	0	1	0	0	0	15788	884	31	1	1288	1	TCF3	19	1621849	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	65456	1621849	57507134	514	2382											
REXO1	57455	broad.mit.edu	37	chr19	1818554	1818554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcggcctgaagaggacacGaggtactcggtgccacagcg	10	4	15	12	4	0	2	0	1	0	1	1	4	0	3	2	4	4	1	2	4	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:1818554G>A	ENST00000170168.4	-	10	3037	c.2943C>T	c.(2941-2943)ctC>ctT	p.L981L		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	981						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		AAGAGGACACGAGGTACTCGG	0.672													3	18					0	0	0	0	A	1818554	G	A	1818554	2	1	8	1	0	0	0	0	0	0	0	1	13323	1045	37	1		1	REXO1	19	1818554	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	196705	1818554	57310429	515	2383											
DIRAS1	148252	broad.mit.edu	37	chr19	2717417	2717417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgcctcgcgcgtgtccaCctcccgctgcgtctcatcgc	2	9	10	20	7	1	0	1	0	1	0	6	0	3	0	4	0	2	1	4	0	0	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:2717417C>T	ENST00000323469.4	-	2	571	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	DIRAS1_ENST00000585334.1_Missense_Mutation_p.V130M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	130					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		CGCGTGTCCACCTCCCGCTGC	0.617													15	32					0	0	0	0	T	2717417	C	T	2717417	3	4	8	1	0	0	0	0	1	0	0	0	4567	507	18	4	212	4	DIRAS1	19	2717417	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	898863	2717417	56411566	516	2384											
MAP2K2	5605	broad.mit.edu	37	chr19	4099284	4099284	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgaccacgggccggccaaaGatggcctccagctctttggc	7	7	12	15	3	1	1	0	0	1	1	3	2	2	1	5	4	1	1	5	4	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:4099284G>C	ENST00000262948.5	-	7	1087	c.834C>G	c.(832-834)atC>atG	p.I278M	MAP2K2_ENST00000394867.4_Missense_Mutation_p.I181M	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	278	Pro-rich.|Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGCCAAAGATGGCCTCCA	0.697													3	13					0	0	0	0	C	4099284	G	C	4099284	3	2	8	1	0	0	0	0	1	0	0	0	9306	932	33	2	388	2	MAP2K2	19	4099284	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1381867	4099284	55029699	517	2385											
SAFB	6294	broad.mit.edu	37	chr19	5664440	5664440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggtcaatgatgggagaacGagaaggacaggtaagtctga	16	6	15	4	1	2	4	1	2	1	2	2	7	2	5	0	4	1	1	0	4	5	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:5664440G>A	ENST00000292123.5	+	17	2431	c.2324G>A	c.(2323-2325)cGa>cAa	p.R775Q	SAFB_ENST00000588852.1_Missense_Mutation_p.R775Q|SAFB_ENST00000592224.1_Missense_Mutation_p.R774Q|SAFB_ENST00000454510.1_Missense_Mutation_p.R706Q|SAFB_ENST00000433404.1_Missense_Mutation_p.R605Q|SAFB_ENST00000538656.1_Missense_Mutation_p.R617Q	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	775	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		ATGGGAGAACGAGAAGGACAG	0.458													5	36					0	0	0	0	A	5664440	G	A	5664440	3	1	8	1	0	0	0	0	1	0	0	0	13891	1058	37	1	2390	1	SAFB	19	5664440	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1565156	5664440	53464543	518	2386											
DENND1C	79958	broad.mit.edu	37	chr19	6471307	6471307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcccagagctgataggatCgaagggcccctggggtaagg	9	5	17	10	2	0	2	0	1	0	1	1	4	0	3	3	6	1	2	3	6	3	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:6471307C>T	ENST00000381480.2	-	17	1371	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	DENND1C_ENST00000543576.1_Missense_Mutation_p.R376Q	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	420						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CTGATAGGATCGAAGGGCCCC	0.607													7	11					0	0	0	0	T	6471307	C	T	6471307	3	4	8	1	0	0	0	0	1	0	0	0	4465	884	31	1	1174	1	DENND1C	19	6471307	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	806867	6471307	52657676	519	2387											
COL5A3	50509	broad.mit.edu	37	chr19	10085036	10085036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccgtcatctcctttctGcccaaagaggcctgggggtc	6	10	11	14	1	3	1	1	0	2	1	6	2	4	1	4	3	1	0	4	3	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:10085036G>T	ENST00000264828.3	-	46	3476	c.3391C>A	c.(3391-3393)Cag>Aag	p.Q1131K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1131	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTCCTTTCTGCCCAAAGAGG	0.607													14	38					1.49906e-05	1.54429e-05	1	0	T	10085036	G	T	10085036	3	4	8	1	0	0	0	0	1	0	0	0	3728	1328	46	4	1934	4	COL5A3	19	10085036	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3613729	10085036	49043947	520	2388											
EIF3G	8666	broad.mit.edu	37	chr19	10226446	10226446	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctcctgcaggtcggtctCacgcgtgtcctctgacaagt	6	10	12	13	3	2	1	1	1	2	0	6	2	4	1	2	2	2	2	2	2	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:10226446C>G	ENST00000253108.4	-	9	796	c.754G>C	c.(754-756)Gag>Cag	p.E252Q		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	252	RRM.					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AGGTCGGTCTCACGCGTGTCC	0.637													44	87					0	0	0	0	G	10226446	C	G	10226446	3	3	8	1	0	0	0	0	1	0	0	0	5055	835	29	2	220	2	EIF3G	19	10226446	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	141410	10226446	48902537	521	2389											
ICAM1	3383	broad.mit.edu	37	chr19	10395703	10395703	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtgaccgtgaatgtgctCtgtgagtgagccggcgggca	8	8	17	8	3	1	4	0	4	1	0	1	4	1	4	2	3	2	2	2	3	2	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:10395703C>T	ENST00000264832.3	+	6	1750	c.1426_splice	c.e6+1	p.L475_splice	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Splice_Site_p.L253_splice	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	475					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	TGAATGTGCTCTGTGAGTGAG	0.622													15	37					0	0	0	0	T	10395703	C	T	10395703	5	4	8	1	0	0	0	0	0	0	1	0	7532	927	32	2	1447	2	ICAM1	19	10395703	Splice_Site	SNP	C	TCGA-BA-5152-01A-02D-1870-08	169257	10395703	48733280	522	2390											
ICAM5	7087	broad.mit.edu	37	chr19	10402810	10402810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacggactgtttccagcctCagaggccagggtctacctcg	7	8	13	13	2	2	1	1	0	1	1	4	3	3	3	4	4	2	1	4	4	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:10402810C>T	ENST00000221980.4	+	4	836	c.773C>T	c.(772-774)tCa>tTa	p.S258L		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	258	Ig-like C2-type 3.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TTTCCAGCCTCAGAGGCCAGG	0.647													6	111					0	0	0	0	T	10402810	C	T	10402810	3	4	8	1	0	0	0	0	1	0	0	0	7536	838	29	2	787	2	ICAM5	19	10402810	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7107	10402810	48726173	523	2391											
DOCK6	57572	broad.mit.edu	37	chr19	11354276	11354276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagctgcccagcgctgctCacgatgttggccaagtgcac	7	8	11	15	2	1	0	1	0	0	0	2	1	2	0	3	1	5	5	3	1	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:11354276C>T	ENST00000294618.7	-	11	1226	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	405					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CAGCGCTGCTCACGATGTTGG	0.692											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	17					0	0	0	0	T	11354276	C	T	11354276	2	4	8	1	0	0	0	0	0	0	0	1	4727	813	29	2		2	DOCK6	19	11354276	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	951466	11354276	47774707	524	2392											
ZNF625	90589	broad.mit.edu	37	chr19	12256165	12256165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggagctacagggtttttCtccagtgtgagtcctttcat	6	16	11	8	0	2	1	1	1	1	0	4	2	3	2	2	2	2	3	2	2	1	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:12256165C>T	ENST00000355738.1	-	4	1217	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	ZNF625_ENST00000439556.2_Missense_Mutation_p.E356K|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000542938.1_Missense_Mutation_p.E290K			Q96I27	ZN625_HUMAN	zinc finger protein 625	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						CAGGGTTTTTCTCCAGTGTGA	0.428													39	72					0	0	0	0	T	12256165	C	T	12256165	3	4	8	1	0	0	0	0	1	0	0	0	18144	922	32	2	56	2	ZNF625	19	12256165	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	901889	12256165	46872818	525	2393											
TRMT1	55621	broad.mit.edu	37	chr19	13226280	13226280	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccagcacatgcaggccttCctgttggagtaagcagaaaa	12	9	10	10	0	0	1	0	0	0	1	2	2	2	2	3	2	3	5	3	2	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:13226280C>T	ENST00000592062.1	-	6	1024	c.453_splice	c.e6-1	p.E152_splice	TRMT1_ENST00000221504.8_Splice_Site_p.E152_splice|TRMT1_ENST00000357720.4_Splice_Site_p.E152_splice|TRMT1_ENST00000437766.1_Splice_Site_p.E152_splice			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	152							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGCAGGCCTTCCTGTTGGAGT	0.587													8	29					0	0	0	0	T	13226280	C	T	13226280	5	4	8	1	0	0	0	0	0	0	1	0	16656	869	30	2	1577	2	TRMT1	19	13226280	Splice_Site	SNP	C	TCGA-BA-5152-01A-02D-1870-08	970115	13226280	45902703	526	2394											
OR10H4	126541	broad.mit.edu	37	chr19	16060070	16060070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacccctcgcatgctggctGatctgctttccacccatcat	6	12	6	17	1	3	1	2	1	1	0	5	1	4	1	4	1	2	4	4	1	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:16060070G>A	ENST00000322107.1	+	1	253	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CATGCTGGCTGATCTGCTTTC	0.507													6	349					0	0	0	0	A	16060070	G	A	16060070	3	1	8	1	0	0	0	0	1	0	0	0	10979	1290	45	2	255	2	OR10H4	19	16060070	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2833790	16060070	43068913	527	2395											
ZNF486	90649	broad.mit.edu	37	chr19	20307969	20307969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatgtttgacaactacccaGagcaaaatatttcaatgtgg	15	11	7	8	0	1	2	1	1	0	1	1	2	1	2	1	1	3	2	1	1	7	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:20307969G>C	ENST00000335117.8	+	4	507	c.450G>C	c.(448-450)caG>caC	p.Q150H	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAACTACCCAGAGCAAAATAT	0.303													33	95					0	0	0	0	C	20307969	G	C	20307969	3	2	8	1	0	0	0	0	1	0	0	0	18034	933	33	2	464	2	ZNF486	19	20307969	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	4247899	20307969	38821014	528	2396											
ZNF91	7644	broad.mit.edu	37	chr19	23544945	23544945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttatgtctagttagggttGaggaccatagaaatgctttg	10	15	11	5	0	2	2	0	1	2	1	2	3	2	3	1	2	1	3	1	2	5	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:23544945G>A	ENST00000300619.7	-	4	1041	c.836C>T	c.(835-837)tCa>tTa	p.S279L	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S247L	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	279						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTTAGGGTTGAGGACCATAG	0.388													11	83					0	0	0	0	A	23544945	G	A	23544945	3	1	8	1	0	0	0	0	1	0	0	0	18293	1294	45	2	2743	2	ZNF91	19	23544945	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3236976	23544945	35584038	529	2397											
CATSPERG	57828	broad.mit.edu	37	chr19	38853162	38853162	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagggcactgagtacagcttCgccatcttcctgtcggcgca	8	9	11	13	3	1	1	0	1	1	0	4	1	2	1	2	2	2	4	2	2	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:38853162C>T	ENST00000409235.3	+	19	2419	c.2304C>T	c.(2302-2304)ttC>ttT	p.F768F	CATSPERG_ENST00000410018.1_Silent_p.F728F|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	768					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGTACAGCTTCGCCATCTTCC	0.612													9	54					0	0	0	0	T	38853162	C	T	38853162	2	4	8	1	0	0	0	0	0	0	0	1	2717	883	31	1		1	CATSPERG	19	38853162	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	15308217	38853162	20275821	530	2398											
FCGBP	8857	broad.mit.edu	37	chr19	40368869	40368869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcaaggctgtgagcacaCcgttcacctgggggaaggag	10	5	16	10	1	1	1	1	1	0	0	1	3	1	3	2	5	1	4	2	5	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:40368869C>T	ENST00000221347.6	-	28	12486	c.12479G>A	c.(12478-12480)gGt>gAt	p.G4160D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4160	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGTGAGCACACCGTTCACCTG	0.637													25	217					0	0	0	0	T	40368869	C	T	40368869	3	4	8	1	0	0	0	0	1	0	0	0	5823	507	18	4	3774	4	FCGBP	19	40368869	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1515707	40368869	18760114	531	2399											
GSK3A	2931	broad.mit.edu	37	chr19	42737444	42737444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccccgcccctcaccttgatGatctccaccagctggtccac	6	8	7	20	1	2	2	1	2	1	0	4	2	3	2	8	1	1	1	8	1	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:42737444G>A	ENST00000398249.4	-	6	2463	c.750C>T	c.(748-750)atC>atT	p.I250I	GSK3A_ENST00000222330.3_Silent_p.I332I			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	332	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				TCACCTTGATGATCTCCACCA	0.642													4	10					0	0	0	0	A	42737444	G	A	42737444	2	1	8	1	0	0	0	0	0	0	0	1	6873	1280	45	2		2	GSK3A	19	42737444	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2368575	42737444	16391539	532	2400											
GEMIN7	79760	broad.mit.edu	37	chr19	45593559	45593559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgggcacgagccgcccttCgggagcgttacctccgcagc	6	5	14	16	6	0	0	0	0	0	0	2	2	1	1	4	2	5	3	4	2	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:45593559C>T	ENST00000270257.4	+	3	434	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	CTB-179K24.4_ENST00000586744.1_RNA|GEMIN7_ENST00000391951.2_Missense_Mutation_p.R63W|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591607.1_Missense_Mutation_p.R63W|GEMIN7_ENST00000591747.1_Missense_Mutation_p.R63W	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	63					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		AGCCGCCCTTCGGGAGCGTTA	0.632													4	57					0	0	0	0	T	45593559	C	T	45593559	3	4	8	1	0	0	0	0	1	0	0	0	6384	875	31	1	189	1	GEMIN7	19	45593559	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2856115	45593559	13535424	533	2401											
PPM1N	147699	broad.mit.edu	37	chr19	46002055	46002055	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcgacggccacggtggggctCgagctgcccgcttcggtgca	4	7	16	14	6	0	0	0	0	0	0	3	2	0	0	2	5	3	4	2	5	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:46002055C>G	ENST00000324688.4	+	1	191	c.91C>G	c.(91-93)Cga>Gga	p.R31G	PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000451287.2_Missense_Mutation_p.R109G|PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000396737.2_Intron			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	109	Poly-Glu.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						CGGTGGGGCTCGAGCTGCCCG	0.711													2	3					0	0	0	0	G	46002055	C	G	46002055	3	3	8	1	0	0	0	0	1	0	0	0	12422	876	31	3	327	3	PPM1N	19	46002055	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	408496	46002055	13126928	534	2402											
STRN4	29888	broad.mit.edu	37	chr19	47226133	47226133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtcatacaagacggtgtCgccagagcggaaggaggcca	12	5	14	10	3	1	2	1	0	0	2	2	4	1	4	2	4	2	0	2	4	3	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:47226133C>T	ENST00000391910.3	-	14	2311	c.1861G>A	c.(1861-1863)Gac>Aac	p.D621N	STRN4_ENST00000539396.1_Missense_Mutation_p.D495N|STRN4_ENST00000263280.6_Missense_Mutation_p.D614N			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	614						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AAGACGGTGTCGCCAGAGCGG	0.637													29	99					0	0	0	0	T	47226133	C	T	47226133	3	4	8	1	0	0	0	0	1	0	0	0	15421	884	31	1	437	1	STRN4	19	47226133	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1224078	47226133	11902850	535	2403											
SLC1A5	6510	broad.mit.edu	37	chr19	47278850	47278850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggagggggtttccttcctCagtggggactggcagcggat	6	9	18	8	1	1	0	1	0	0	0	3	4	3	3	2	7	1	2	2	7	0	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:47278850C>T	ENST00000542575.2	-	8	2171	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	SLC1A5_ENST00000412532.2_Missense_Mutation_p.E287K|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000594991.1_Missense_Mutation_p.E339K|SLC1A5_ENST00000434726.2_Missense_Mutation_p.E313K	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	515					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TTTCCTTCCTCAGTGGGGACT	0.582													53	201					0	0	0	0	T	47278850	C	T	47278850	3	4	8	1	0	0	0	0	1	0	0	0	14523	835	29	2	86	2	SLC1A5	19	47278850	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	52717	47278850	11850133	536	2404											
EHD2	30846	broad.mit.edu	37	chr19	48229328	48229328	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtgctgcgcgtctacatCggctccttctggtcccagcc	4	10	12	15	3	2	0	0	0	2	0	5	1	4	0	3	3	4	2	3	3	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:48229328C>T	ENST00000263277.3	+	4	1013	c.762C>T	c.(760-762)atC>atT	p.I254I	CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Silent_p.I118I	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	254					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GCGTCTACATCGGCTCCTTCT	0.697													6	6					0	0	0	0	T	48229328	C	T	48229328	2	4	8	1	0	0	0	0	0	0	0	1	5014	874	31	1		1	EHD2	19	48229328	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	950478	48229328	10899655	537	2405											
MYH14	79784	broad.mit.edu	37	chr19	50721024	50721024	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggcctatcggagcatgctGcagggtgagtgctgggtggg	5	8	21	7	1	0	1	0	1	0	0	1	2	0	2	1	6	4	4	1	6	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:50721024G>T	ENST00000440075.2	+	3	605	c.558G>T	c.(556-558)ctG>ctT	p.L186L	MYH14_ENST00000376970.2_Silent_p.L186L|MYH14_ENST00000262269.8_Silent_p.L186L|MYH14_ENST00000601313.1_Silent_p.L186L|MYH14_ENST00000425460.1_Silent_p.L186L|MYH14_ENST00000596571.1_Silent_p.L186L|MYH14_ENST00000598205.1_Silent_p.L186L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	186	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGCATGCTGCAGGGTGAGT	0.642													29	57					7.01153e-11	7.38219e-11	1	0	T	50721024	G	T	50721024	2	4	8	1	0	0	0	0	0	0	0	1	10103	1306	46	4		4	MYH14	19	50721024	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	2491696	50721024	8407959	538	2406											
SIGLEC8	27181	broad.mit.edu	37	chr19	51958028	51958028	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacttgtgatacaggtcttGaggtgcctgcagatggattg	8	13	13	7	0	2	3	1	2	1	1	2	4	2	4	1	3	3	1	1	3	1	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:51958028G>C	ENST00000321424.3	-	5	1124	c.1058C>G	c.(1057-1059)tCa>tGa	p.S353*	SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.S260*|SIGLEC8_ENST00000430817.1_Nonsense_Mutation_p.S244*	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	353					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TACAGGTCTTGAGGTGCCTGC	0.547													11	97					0	0	0	0	C	51958028	G	C	51958028	4	2	8	1	0	0	0	0	0	1	0	0	14402	1294	45	2	453	2	SIGLEC8	19	51958028	Nonsense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1237004	51958028	7170955	539	2407											
ZNF350	59348	broad.mit.edu	37	chr19	52468574	52468574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctaaaggctttcccacattCactacattcaaagggtttct	11	13	6	11	0	3	0	2	0	1	0	4	0	4	0	1	2	1	3	1	2	4	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:52468574C>G	ENST00000243644.4	-	5	1359	c.1132G>C	c.(1132-1134)Gaa>Caa	p.E378Q	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	378					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TTCCCACATTCACTACATTCA	0.433													11	43					0	0	0	0	G	52468574	C	G	52468574	3	3	8	1	0	0	0	0	1	0	0	0	17958	835	29	2	470	2	ZNF350	19	52468574	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	510546	52468574	6660409	540	2408											
ZNF615	284370	broad.mit.edu	37	chr19	52497896	52497896	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagagctccttttctggtTttcaaaacttaaatttgatt	10	17	6	8	0	2	2	1	1	1	1	3	2	3	2	2	1	2	2	2	1	4	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:52497896T>A	ENST00000602063.1	-	6	782	c.433A>T	c.(433-435)Aac>Tac	p.N145Y	ZNF615_ENST00000391795.3_Missense_Mutation_p.N150Y|ZNF615_ENST00000594083.1_Missense_Mutation_p.N156Y|ZNF615_ENST00000598071.1_Missense_Mutation_p.N156Y|ZNF615_ENST00000376716.5_Missense_Mutation_p.N145Y			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTTTCTGGTTTTCAAAACTT	0.318													8	87					0	0	0	0	A	52497896	T	A	52497896	3	1	8	1	0	0	0	0	1	0	0	0	18135	1841	64	5	1766	5	ZNF615	19	52497896	Missense_Mutation	SNP	T	TCGA-BA-5152-01A-02D-1870-08	29322	52497896	6631087	541	2409											
OSCAR	126014	broad.mit.edu	37	chr19	54600369	54600369	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttggggtgcccggcatctCaaggtcacgttgaccccagg	6	8	15	12	2	2	1	2	1	1	0	3	1	2	1	3	6	1	3	3	6	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:54600369C>G	ENST00000284648.6	-	4	350	c.153G>C	c.(151-153)ttG>ttC	p.L51F	OSCAR_ENST00000358375.4_Missense_Mutation_p.L51F|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000359649.4_Missense_Mutation_p.L55F|OSCAR_ENST00000391761.1_Missense_Mutation_p.L40F|OSCAR_ENST00000351806.4_Missense_Mutation_p.L40F|OSCAR_ENST00000356532.3_Missense_Mutation_p.L55F			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	51	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CCCGGCATCTCAAGGTCACGT	0.592													28	122					0	0	0	0	G	54600369	C	G	54600369	3	3	8	1	0	0	0	0	1	0	0	0	11356	825	29	2	844	2	OSCAR	19	54600369	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2102473	54600369	4528614	542	2410											
NDUFA3	4696	broad.mit.edu	37	chr19	54611809	54611809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccactcaacgccaaagctgtCctggagccagacggtcctga	10	6	10	15	2	1	2	1	1	0	1	3	3	3	3	5	2	3	1	5	2	2	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:54611809C>G	ENST00000391764.3	+	4	236	c.226C>G	c.(226-228)Cct>Gct	p.P76A	TFPT_ENST00000391758.1_Intron|TFPT_ENST00000391759.1_Intron|TFPT_ENST00000391757.1_Intron			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	CCAAAGCTGTCCtggagccag	0.592													13	29					0	0	0	0	G	54611809	C	G	54611809	3	3	8	1	0	0	0	0	1	0	0	0	10335	870	30	2		2	NDUFA3	19	54611809	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	11440	54611809	4517174	543	2411											
NLRP5	126206	broad.mit.edu	37	chr19	56539850	56539850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccaagagatgagtccgctGaggcatgtcctgtggtccct	7	10	12	12	1	0	3	0	2	0	1	4	4	4	3	4	2	0	2	4	2	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:56539850G>A	ENST00000390649.3	+	7	2251	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	751						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGTCCGCTGAGGCATGTCC	0.522													58	202					0	0	0	0	A	56539850	G	A	56539850	3	1	8	1	0	0	0	0	1	0	0	0	10550	1291	45	2	2277	2	NLRP5	19	56539850	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1928041	56539850	2589133	544	2412											
USP29	57663	broad.mit.edu	37	chr19	57642360	57642360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaccctcaatcagtctacaGaattaagacttcaaaaggct	16	9	6	10	0	4	3	3	0	1	3	4	3	4	3	1	1	1	1	1	1	6	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:57642360G>A	ENST00000254181.4	+	4	2771	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	USP29_ENST00000598197.1_Missense_Mutation_p.E773K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	773					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGTCTACAGAATTAAGACT	0.463													17	24					0	0	0	0	A	57642360	G	A	57642360	3	1	8	1	0	0	0	0	1	0	0	0	17155	943	33	2	2319	2	USP29	19	57642360	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1102510	57642360	1486623	545	2413											
TRIM28	10155	broad.mit.edu	37	chr19	59060728	59060728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggaggctgccattggagccCctcctactgccactgagggc	6	7	13	15	1	0	1	0	1	0	0	1	3	1	3	5	4	4	1	5	4	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:59060728C>A	ENST00000253024.5	+	13	1982	c.1693C>A	c.(1693-1695)Cct>Act	p.P565T	TRIM28_ENST00000341753.6_Missense_Mutation_p.P483T	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	565					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CATTGGAGCCCCTCCTACTGC	0.607													53	195					6.56871e-35	7.09302e-35	1	0	A	59060728	C	A	59060728	3	1	8	1	0	0	0	0	1	0	0	0	16597	623	22	4	1743	4	TRIM28	19	59060728	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1418368	59060728	68255	546	2414											
NSFL1C	55968	broad.mit.edu	37	chr20	1426360	1426360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcccgccgtctgcaagccGaatttggatgtttgtggtag	6	12	12	11	3	1	0	0	0	1	0	2	2	2	1	4	2	2	3	4	2	3	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:1426360G>A	ENST00000216879.4	-	8	1768	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	NSFL1C_ENST00000476071.1_Missense_Mutation_p.R303W|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R303W|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R270W|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R190W	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	301	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding	p.R301W(1)		breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCTGCAAGCCGAATTTGGATG	0.517													26	258					0	0	0	0	A	1426360	G	A	1426360	3	1	8	1	0	0	0	0	1	0	0	0	10743	1057	37	1	219	1	NSFL1C	20	1426360	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08		1426360	61599160	547	2415											
ZNF343	79175	broad.mit.edu	37	chr20	2474452	2474452	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatgattttgggtcaatttCttcatagtctctacattttc	8	21	5	7	0	4	1	2	1	2	0	6	1	4	1	0	1	1	0	0	1	4	9			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:2474452C>T	ENST00000278772.4	-	3	577	c.90G>A	c.(88-90)aaG>aaA	p.K30K	ZNF343_ENST00000381253.1_Silent_p.K30K|ZNF343_ENST00000358413.2_Silent_p.K30K|RP4-734P14.4_ENST00000461548.1_Silent_p.K30K	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GGGTCAATTTCTTCATAGTCT	0.458													35	154					0	0	0	0	T	2474452	C	T	2474452	2	4	8	1	0	0	0	0	0	0	0	1	17953	912	32	2		2	ZNF343	20	2474452	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1048092	2474452	60551068	548	2416											
ZNF343	79175	broad.mit.edu	37	chr20	2474463	2474463	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcaatttcttcatagtctCtacattttccccattctttg	7	19	4	11	0	5	0	2	0	3	0	7	0	6	0	2	1	1	0	2	1	3	8			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:2474463C>G	ENST00000278772.4	-	3	566	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	ZNF343_ENST00000381253.1_Missense_Mutation_p.E27Q|ZNF343_ENST00000358413.2_Missense_Mutation_p.E27Q|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.E27Q	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E27K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TTCATAGTCTCTACATTTTCC	0.473													36	161					0	0	0	0	G	2474463	C	G	2474463	3	3	8	1	0	0	0	0	1	0	0	0	17953	922	32	2	1736	2	ZNF343	20	2474463	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	11	2474463	60551057	549	2417											
ATRN	8455	broad.mit.edu	37	chr20	3529964	3529964	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatatatgttcaaccactCagattataacatggttctag	14	13	7	7	0	3	1	2	0	1	1	3	2	3	2	1	2	2	2	1	2	6	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:3529964C>G	ENST00000262919.5	+	6	1159	c.1091C>G	c.(1090-1092)tCa>tGa	p.S364*	ATRN_ENST00000446916.2_Nonsense_Mutation_p.S364*	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	364					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTCAACCACTCAGATTATAAC	0.333													21	99					0	0	0	0	G	3529964	C	G	3529964	4	3	8	1	0	0	0	0	0	1	0	0	1210	838	29	2	1113	2	ATRN	20	3529964	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1055501	3529964	59495556	550	2418											
TGM2	7052	broad.mit.edu	37	chr20	36789876	36789876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctcgtagttgcggccctCaaagtgcagggtcagccaga	8	7	14	12	2	2	1	2	0	0	1	3	1	2	1	3	3	3	3	3	3	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:36789876C>T	ENST00000361475.2	-	2	309	c.136G>A	c.(136-138)Gag>Aag	p.E46K	TGM2_ENST00000536701.1_Missense_Mutation_p.E46K|TGM2_ENST00000536724.1_Intron	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	46					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TTGCGGCCCTCAAAGTGCAGG	0.642													9	72					0	0	0	0	T	36789876	C	T	36789876	3	4	8	1	0	0	0	0	1	0	0	0	15924	835	29	2	2007	2	TGM2	20	36789876	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	33259912	36789876	26235644	551	2419											
ADA	100	broad.mit.edu	37	chr20	43251500	43251500	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttttcctgccgcagcctGttataaagggcctggtcttc	6	14	10	11	1	1	0	0	0	1	0	3	0	2	0	4	2	2	3	4	2	3	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:43251500G>A	ENST00000372874.4	-	8	884	c.750C>T	c.(748-750)aaC>aaT	p.N250N	PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372887.1_Intron|ADA_ENST00000464097.1_5'UTR|ADA_ENST00000537820.1_Silent_p.N226N	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	250					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	GCCGCAGCCTGTTATAAAGGG	0.557									Adenosine Deaminase Deficiency				27	133					0	0	0	0	A	43251500	G	A	43251500	2	1	8	1	0	0	0	0	0	0	0	1	230	1368	48	4		4	ADA	20	43251500	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	6461624	43251500	19774020	552	2420											
NEURL2	140825	broad.mit.edu	37	chr20	44517447	44517447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggcaggtggagcccatCaatggccagccggtgcacca	8	7	14	12	1	1	0	1	0	0	0	1	1	1	1	4	5	3	2	4	5	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:44517447C>A	ENST00000372518.4	-	2	1103	c.808G>T	c.(808-810)Gat>Tat	p.D270Y		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	270	SOCS box.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGGAGCCCATCAATGGCCAGC	0.542													5	73					0.000602214	0.000614207	1	0	A	44517447	C	A	44517447	3	1	8	1	0	0	0	0	1	0	0	0	10416	826	29	2	53	2	NEURL2	20	44517447	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1265947	44517447	18508073	553	2421											
RBM38	55544	broad.mit.edu	37	chr20	55982766	55982766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagtacccatacgccgcctCgcctgccacggctgccagct	6	6	9	20	4	0	0	0	0	0	0	1	0	0	0	7	1	5	3	7	1	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:55982766C>T	ENST00000356208.5	+	4	759	c.584C>T	c.(583-585)tCg>tTg	p.S195L	RBM38_ENST00000371219.2_Missense_Mutation_p.S114L|RBM38_ENST00000440234.2_3'UTR	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	195					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			TACGCCGCCTCGCCTGCCACG	0.692													8	20					0	0	0	0	T	55982766	C	T	55982766	3	4	8	1	0	0	0	0	1	0	0	0	13214	893	31	1	357	1	RBM38	20	55982766	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	11465319	55982766	7042754	554	2422											
YTHDF1	54915	broad.mit.edu	37	chr20	61846954	61846954	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatcttgtccttttgttctCtgcaccgccgcaggccggga	4	14	10	13	3	2	0	0	0	2	0	4	1	3	1	4	2	1	3	4	2	1	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:61846954C>G	ENST00000370339.3	-	2	369		c.e2-1		YTHDF1_ENST00000370334.4_Splice_Site	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1											NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CTTTTGTTCTCTGCACCGCCG	0.622													17	29					0	0	0	0	G	61846954	C	G	61846954	5	3	8	1	0	0	0	0	0	0	1	0	17594	927	32	2	1668	2	YTHDF1	20	61846954	Splice_Site	SNP	C	TCGA-BA-5152-01A-02D-1870-08	5864188	61846954	1178566	555	2423											
KCNQ2	3785	broad.mit.edu	37	chr20	62038284	62038284	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcccgcaggttcccctCggggggcctgcagcccgggg	2	6	17	16	3	0	0	0	0	0	0	3	0	2	0	5	6	2	4	5	6	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:62038284C>A	ENST00000354587.3	-	17	2532	c.2356G>T	c.(2356-2358)Gag>Tag	p.E786*	KCNQ2_ENST00000359689.1_Nonsense_Mutation_p.E778*|KCNQ2_ENST00000360480.3_Nonsense_Mutation_p.E750*|KCNQ2_ENST00000430658.1_Nonsense_Mutation_p.E747*|KCNQ2_ENST00000370224.1_Nonsense_Mutation_p.E786*|KCNQ2_ENST00000359125.2_Nonsense_Mutation_p.E778*|KCNQ2_ENST00000344462.3_Nonsense_Mutation_p.E774*|KCNQ2_ENST00000357249.2_Nonsense_Mutation_p.E760*|KCNQ2_ENST00000370226.1_Nonsense_Mutation_p.E748*			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	778					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AGGTTCCCCTCGGGGGGCCTG	0.701													4	10					5.9392e-07	6.18954e-07	1	0	A	62038284	C	A	62038284	4	1	8	1	0	0	0	0	0	1	0	0	8136	893	31	3	290	3	KCNQ2	20	62038284	Nonsense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	191330	62038284	987236	556	2424											
CXADR	1525	broad.mit.edu	37	chr21	18931416	18931416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagtggcaaaaattgtctGactcacagaaaatgcccact	15	9	8	9	0	2	3	1	2	1	1	2	3	2	3	1	1	1	1	1	1	4	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr21:18931416G>A	ENST00000284878.7	+	4	1286	c.538G>A	c.(538-540)Gac>Aac	p.D180N	CXADR_ENST00000356275.6_Intron|CXADR_ENST00000306618.10_Missense_Mutation_p.D180N|CXADR_ENST00000400169.1_Missense_Mutation_p.D180N|CXADR_ENST00000400166.1_Missense_Mutation_p.D180N|CXADR_ENST00000400165.1_Intron	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	180	Ig-like C2-type 2.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		AAAATTGTCTGACTCACAGAA	0.383													18	68					0	0	0	0	A	18931416	G	A	18931416	3	1	8	1	0	0	0	0	1	0	0	0	4108	1290	45	2	552	2	CXADR	21	18931416	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08		18931416	29198479	557	2425											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812732	31812732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttccacttataatttgttCtaccccagcaatgccatcta	10	15	4	12	0	2	0	0	0	2	0	3	0	3	0	4	0	3	3	4	0	5	7	rs138157793	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr21:31812732C>G	ENST00000334067.3	+	1	136	c.87C>G	c.(85-87)ttC>ttG	p.F29L		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	29						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						ATAATTTGTTCTACCCCAGCA	0.478													3	111					0	0	0	0	G	31812732	C	G	31812732	3	3	8	1	0	0	0	0	1	0	0	0	8578	912	32	2	89	2	KRTAP15-1	21	31812732	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	12881316	31812732	16317163	558	2426											
SON	6651	broad.mit.edu	37	chr21	34931614	34931614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtttcggatgaagaggaaGaagaacctcctttttatcat	13	13	9	6	1	1	4	1	1	0	3	3	6	2	6	2	2	1	1	2	2	5	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr21:34931614G>A	ENST00000356577.4	+	5	6875	c.6400G>A	c.(6400-6402)Gaa>Aaa	p.E2134K	SON_ENST00000381692.2_Missense_Mutation_p.E162K|SON_ENST00000290239.6_Missense_Mutation_p.E2134K|SON_ENST00000300278.4_Missense_Mutation_p.E2134K	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	2134					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGAAGAGGAAGAAGAACCTCC	0.323													11	143					0	0	0	0	A	34931614	G	A	34931614	3	1	8	1	0	0	0	0	1	0	0	0	15014	943	33	2	6418	2	SON	21	34931614	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	3118882	34931614	13198281	559	2427											
HMGN1	3150	broad.mit.edu	37	chr21	40714934	40714934	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcttaaaaatgtttctaGagctactaaaaaacttgcat	15	14	4	8	0	2	1	0	0	2	1	2	1	2	1	1	0	4	3	1	0	8	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr21:40714934G>C	ENST00000361263.4	-	3	979	c.298C>G	c.(298-300)Cta>Gta	p.L100V	HMGN1_ENST00000380747.1_3'UTR|HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380749.5_3'UTR|HMGN1_ENST00000380748.1_3'UTR			P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	0					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				AATGTTTCTAGAGCTACTAAA	0.333													4	4					0	0	0	0	C	40714934	G	C	40714934	3	2	8	1	0	0	0	0	1	0	0	0	7284	957	33	2		2	HMGN1	21	40714934	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	5783320	40714934	7414961	560	2428											
DSCAM	1826	broad.mit.edu	37	chr21	41684117	41684117	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttggaaatcctcaaggagctCgtgaagtcaatattgtcaat	13	12	9	7	1	3	1	3	1	0	0	5	3	4	3	1	2	1	1	1	2	6	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr21:41684117C>G	ENST00000400454.1	-	9	2430	c.1953G>C	c.(1951-1953)acG>acC	p.T651T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	651	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAAGGAGCTCGTGAAGTCAA	0.547													20	78					0	0	0	0	G	41684117	C	G	41684117	2	3	8	1	0	0	0	0	0	0	0	1	4804	871	31	3		3	DSCAM	21	41684117	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	969183	41684117	6445778	561	2429											
UFD1L	7353	broad.mit.edu	37	chr22	19463117	19463117	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagggtggtcgaacatgttGaaagagaactagaaggagga	16	7	15	3	1	0	3	0	1	0	2	1	7	0	5	0	4	2	1	0	4	6	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:19463117G>C	ENST00000263202.9	-	2	141	c.12C>G	c.(10-12)ttC>ttG	p.F4L	UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Missense_Mutation_p.F4L|UFD1L_ENST00000360834.4_Missense_Mutation_p.F4L	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	4					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CGAACATGTTGAAAGAGAACT	0.423													14	61					0	0	0	0	C	19463117	G	C	19463117	3	2	8	1	0	0	0	0	1	0	0	0	17031	1281	45	2	955	2	UFD1L	22	19463117	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08		19463117	31841449	562	2430											
DGCR8	54487	broad.mit.edu	37	chr22	20079432	20079432	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggaaatccgaggtctgcatCctgcacgagtacatgcagcg	10	7	13	11	3	1	0	0	0	1	0	3	3	3	1	2	2	5	4	2	2	2	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:20079432C>G	ENST00000351989.3	+	7	1974	c.1545C>G	c.(1543-1545)atC>atG	p.I515M	DGCR8_ENST00000383024.2_Missense_Mutation_p.I515M|DGCR8_ENST00000407755.1_Missense_Mutation_p.I515M	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	515	DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGGTCTGCATCCTGCACGAGT	0.468													10	34					0	0	0	0	G	20079432	C	G	20079432	3	3	8	1	0	0	0	0	1	0	0	0	4501	845	30	2	1567	2	DGCR8	22	20079432	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	616315	20079432	31225134	563	2431											
TRMT2A	27037	broad.mit.edu	37	chr22	20102116	20102116	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggaagaaggcgtgtggaGagatccggaaggtcagccct	10	6	16	9	2	1	2	1	0	0	2	2	6	2	5	3	5	1	0	3	5	3	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:20102116G>C	ENST00000252136.7	-	7	1602	c.1214C>G	c.(1213-1215)tCt>tGt	p.S405C	TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000439169.2_Missense_Mutation_p.S405C|TRMT2A_ENST00000404751.3_Missense_Mutation_p.S405C|TRMT2A_ENST00000403707.3_Missense_Mutation_p.S405C	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	405					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						GGCGTGTGGAGAGATCCGGAA	0.632													21	98					0	0	0	0	C	20102116	G	C	20102116	3	2	8	1	0	0	0	0	1	0	0	0	16660	942	33	2	687	2	TRMT2A	22	20102116	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	22684	20102116	31202450	564	2432											
ZNF280B	140883	broad.mit.edu	37	chr22	22843165	22843165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatccctgagtttagcccTtttgggatttatgctgttta	6	18	8	9	0	0	1	0	1	0	0	2	2	2	2	3	1	2	3	3	1	3	8			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:22843165T>C	ENST00000360412.2	-	4	1334	c.559A>G	c.(559-561)Agg>Ggg	p.R187G	ZNF280B_ENST00000406426.1_Missense_Mutation_p.R187G	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R187G(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGTTTAGCCCTTTTGGGATTT	0.388													4	189					0	0	0	0	C	22843165	T	C	22843165	3	2	8	1	0	0	0	0	1	0	0	0	17910	1608	56	5	1076	5	ZNF280B	22	22843165	Missense_Mutation	SNP	T	TCGA-BA-5152-01A-02D-1870-08	2741049	22843165	28461401	565	2433											
BCR	613	broad.mit.edu	37	chr22	23523385	23523385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgatggggcttccggcgcGcggcgcaggcccccgacggc	4	3	18	16	8	0	0	0	0	0	0	1	2	1	0	3	6	1	2	3	6	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:23523385G>A	ENST00000305877.8	+	1	989	c.238G>A	c.(238-240)Gcg>Acg	p.A80T	BCR_ENST00000359540.3_Missense_Mutation_p.A80T|BCR_ENST00000398512.5_Missense_Mutation_p.A80T	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	80	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CTTCCGGCGCGCGGCGCAGGC	0.736			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								3	4					0	0	0	0	A	23523385	G	A	23523385	3	1	8	1	0	0	0	0	1	0	0	0	1392	1087	38	1	240	1	BCR	22	23523385	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	680220	23523385	27781181	566	2434											
ASPHD2	57168	broad.mit.edu	37	chr22	26829810	26829810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcgtgtggtactgttatCacgtgggcagggagcagccc	6	11	14	10	2	2	0	1	0	1	0	3	1	2	1	1	3	3	4	1	3	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:26829810C>G	ENST00000215906.5	+	2	667	c.229C>G	c.(229-231)Cac>Gac	p.H77D		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	77					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GTACTGTTATCACGTGGGCAG	0.637													23	74					0	0	0	0	G	26829810	C	G	26829810	3	3	8	1	0	0	0	0	1	0	0	0	1059	826	29	2	231	2	ASPHD2	22	26829810	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3306425	26829810	24474756	567	2435											
TBC1D10A	83874	broad.mit.edu	37	chr22	30691787	30691787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccggtgcaggtcacgctCaatcacgtccagccacttgg	7	8	11	15	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:30691787C>T	ENST00000215790.7	-	4	627	c.463G>A	c.(463-465)Gag>Aag	p.E155K	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.E67K|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.E162K|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.E29K	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	155	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGTCACGCTCAATCACGTCC	0.617													9	48					0	0	0	0	T	30691787	C	T	30691787	3	4	8	1	0	0	0	0	1	0	0	0	15689	835	29	2	1087	2	TBC1D10A	22	30691787	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	3861977	30691787	20612779	568	2436											
TRIOBP	11078	broad.mit.edu	37	chr22	38119504	38119504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaaacctccagggcctcatCcacccaagaggacaccccta	12	4	8	17	0	1	1	1	0	0	1	3	3	3	3	7	3	1	0	7	3	3	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:38119504C>T	ENST00000406386.3	+	7	1196	c.941C>T	c.(940-942)tCc>tTc	p.S314F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	314					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					AGGGCCTCATCCACCCAAGAG	0.607													62	159					0	0	0	0	T	38119504	C	T	38119504	3	4	8	1	0	0	0	0	1	0	0	0	16648	855	30	2	959	2	TRIOBP	22	38119504	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	7427717	38119504	13185062	569	2437											
H1F0	3005	broad.mit.edu	37	chr22	38202088	38202088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaaaaaggccaaaccagtGaaacccaaagcaaagtccag	19	2	7	13	0	0	1	0	1	0	0	1	1	1	1	5	1	3	1	5	1	6	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:38202088G>A	ENST00000340857.2	+	1	975	c.537G>A	c.(535-537)gtG>gtA	p.V179V		NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	179					DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding			cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CCAAACCAGTGAAACCCAAAG	0.502													19	44					0	0	0	0	A	38202088	G	A	38202088	2	1	8	1	0	0	0	0	0	0	0	1	6970	1277	45	2		2	H1F0	22	38202088	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	82584	38202088	13102478	570	2438											
C22orf23	84645	broad.mit.edu	37	chr22	38349119	38349119	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcggcgccggaacccagttCctttggtcactacctccatc	6	9	10	16	3	1	0	1	0	0	0	4	1	3	1	5	4	2	1	5	4	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:38349119C>G	ENST00000249079.2	-	2	294	c.38G>C	c.(37-39)gGa>gCa	p.G13A	C22orf23_ENST00000403026.1_Missense_Mutation_p.G13A|C22orf23_ENST00000403305.1_Missense_Mutation_p.G13A|POLR2F_ENST00000484894.1_Intron			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	13										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					GAACCCAGTTCCTTTGGTCAC	0.577													39	143					0	0	0	0	G	38349119	C	G	38349119	3	3	8	1	0	0	0	0	1	0	0	0	2157	855	30	2	639	2	C22orf23	22	38349119	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	147031	38349119	12955447	571	2439											
DMC1	11144	broad.mit.edu	37	chr22	38945946	38945946	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacaaagtattttctgtatCaatgaagataatctttcctc	13	17	4	7	0	3	2	1	1	2	1	5	2	4	2	1	0	1	2	1	0	7	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:38945946C>G	ENST00000216024.2	-	8	754	c.478G>C	c.(478-480)Gat>Cat	p.D160H	DMC1_ENST00000428462.2_Intron	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	160					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTTTCTGTATCAATGAAGATA	0.328								Homologous recombination					8	40					0	0	0	0	G	38945946	C	G	38945946	3	3	8	1	0	0	0	0	1	0	0	0	4616	826	29	2	572	2	DMC1	22	38945946	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	596827	38945946	12358620	572	2440											
SUN2	25777	broad.mit.edu	37	chr22	39138314	39138314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacctcctacctggatgcGagcagcagtttccctgcgga	7	9	10	15	2	0	0	0	0	0	0	3	3	3	2	5	2	5	3	5	2	1	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:39138314G>A	ENST00000405510.1	-	10	1418	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	SUN2_ENST00000405018.1_Missense_Mutation_p.R375C|SUN2_ENST00000406622.1_Missense_Mutation_p.R354C|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.R343C|SUN2_ENST00000216064.4_Missense_Mutation_p.R354C	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	354					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						ACCTGGATGCGAGCAGCAGTT	0.607													9	43					0	0	0	0	A	39138314	G	A	39138314	3	1	8	1	0	0	0	0	1	0	0	0	15482	1058	37	1	1133	1	SUN2	22	39138314	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	192368	39138314	12166252	573	2441											
L3MBTL2	83746	broad.mit.edu	37	chr22	41613186	41613186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcacagttacaaggctgctCccgtcagctgtttcaagcac	10	10	8	13	1	3	0	3	0	0	0	4	0	4	0	1	1	4	6	1	1	3	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:41613186C>T	ENST00000216237.5	+	5	738	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	194					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAAGGCTGCTCCCGTCAGCTG	0.632													25	54					0	0	0	0	T	41613186	C	T	41613186	3	4	8	1	0	0	0	0	1	0	0	0	8645	855	30	2	598	2	L3MBTL2	22	41613186	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	2474872	41613186	9691380	574	2442											
L3MBTL2	83746	broad.mit.edu	37	chr22	41613200	41613200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgctcccgtcagctgtttCaagcacgtgagtgccctgga	6	10	12	13	2	2	1	2	1	0	0	3	2	3	2	2	1	4	5	2	1	1	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:41613200C>T	ENST00000216237.5	+	5	752	c.594C>T	c.(592-594)ttC>ttT	p.F198F	RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	198					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCAGCTGTTTCAAGCACGTGA	0.627													20	51					0	0	0	0	T	41613200	C	T	41613200	2	4	8	1	0	0	0	0	0	0	0	1	8645	825	29	2		2	L3MBTL2	22	41613200	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	14	41613200	9691366	575	2443											
POLR3H	171568	broad.mit.edu	37	chr22	41925317	41925317	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaccaggagagaaggccCaggcctggctcactgatgga	10	5	14	12	0	1	2	1	1	0	1	2	5	2	4	4	5	0	1	4	5	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:41925317C>T	ENST00000355209.4	-	6	928	c.585G>A	c.(583-585)ctG>ctA	p.L195L	POLR3H_ENST00000407461.1_Silent_p.L195L|POLR3H_ENST00000337566.5_Silent_p.L166L|POLR3H_ENST00000396504.2_Silent_p.L195L	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	195					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						AGAGAAGGCCCAGGCCTGGCT	0.597													9	34					0	0	0	0	T	41925317	C	T	41925317	2	4	8	1	0	0	0	0	0	0	0	1	12308	581	21	4		4	POLR3H	22	41925317	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	312117	41925317	9379249	576	2444											
ASMTL	8623	broad.mit.edu	37	chrX	1546743	1546743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcccgcctctcccgcctCggccttctcatcgcggctgc	1	10	9	21	5	2	0	1	0	2	0	7	0	3	0	5	2	1	1	5	2	0	1			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:1546743C>T	ENST00000534940.1	-	7	832	c.607G>A	c.(607-609)Gag>Aag	p.E203K	ASMTL_ENST00000381317.3_Missense_Mutation_p.E261K|ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381333.4_Missense_Mutation_p.E245K|ASMTL_ENST00000416733.2_Missense_Mutation_p.E185K	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	261	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTCCCGCCTCGGCCTTCTCA	0.697													7	57					0	0	0	0	T	1546743	C	T	1546743	3	4	8	1	0	0	0	0	1	0	0	0	1050	893	31	1	1112	1	ASMTL	23	1546743	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08		1546743	153723817	577	2445											
TBL1X	6907	broad.mit.edu	37	chrX	9679750	9679750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtctatagcgtagctttCagccctgatgggaagtactt	8	13	10	10	1	2	1	1	1	1	0	2	2	2	2	2	1	4	3	2	1	5	6			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:9679750C>T	ENST00000217964.7	+	16	2179	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	TBL1X_ENST00000424279.1_Silent_p.F462F|TBL1X_ENST00000407597.2_Silent_p.F513F|TBL1X_ENST00000536365.1_Silent_p.F462F|TBL1X_ENST00000380961.1_Silent_p.F462F	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	513					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GCGTAGCTTTCAGCCCTGATG	0.527													15	21					0	0	0	0	T	9679750	C	T	9679750	2	4	8	1	0	0	0	0	0	0	0	1	15733	825	29	2		2	TBL1X	23	9679750	Silent	SNP	C	TCGA-BA-5152-01A-02D-1870-08	8133007	9679750	145590810	578	2446											
CDKL5	6792	broad.mit.edu	37	chrX	18646649	18646649	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgagccaggcctctggcggGagcagcaacatccggcagga	9	4	15	13	2	1	1	0	1	1	0	2	3	2	3	3	5	4	3	3	5	1	0			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:18646649G>A	ENST00000379989.3	+	19	2940	c.2655G>A	c.(2653-2655)ggG>ggA	p.G885G	CDKL5_ENST00000379996.3_Silent_p.G885G	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	885					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CCTCTGGCGGGAGCAGCAACA	0.592													43	47					0	0	0	0	A	18646649	G	A	18646649	2	1	8	1	0	0	0	0	0	0	0	1	3186	1161	41	2		2	CDKL5	23	18646649	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	8966899	18646649	136623911	579	2447											
SH3KBP1	30011	broad.mit.edu	37	chrX	19764535	19764535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctttgttggtgagagggtCtttcttcatctctttcttta	5	20	9	7	0	5	1	1	1	4	1	6	2	5	1	0	2	1	2	0	2	1	7			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:19764535C>T	ENST00000397821.3	-	3	477	c.187G>A	c.(187-189)Gac>Aac	p.D63N	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.D63N|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.D26N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	63					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GTGAGAGGGTCTTTCTTCATC	0.403													54	51					0	0	0	0	T	19764535	C	T	19764535	3	4	8	1	0	0	0	0	1	0	0	0	14343	913	32	2	1890	2	SH3KBP1	23	19764535	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1117886	19764535	135506025	580	2448											
OTUD5	55593	broad.mit.edu	37	chrX	48783269	48783269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttctagcatctgctgttCaatccatgactcctccgatg	7	14	7	13	1	4	1	1	1	3	0	7	2	7	1	3	0	2	3	3	0	2	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:48783269C>G	ENST00000156084.4	-	6	1192	c.1132G>C	c.(1132-1134)Gaa>Caa	p.E378Q	OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000376488.3_Missense_Mutation_p.E373Q|OTUD5_ENST00000428668.2_Missense_Mutation_p.E156Q|OTUD5_ENST00000396743.3_Missense_Mutation_p.E373Q	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	378					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						ATCTGCTGTTCAATCCATGAC	0.507													8	45					0	0	0	0	G	48783269	C	G	48783269	3	3	8	1	0	0	0	0	1	0	0	0	11386	835	29	2	599	2	OTUD5	23	48783269	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	29018734	48783269	106487291	581	2449											
CCNB3	85417	broad.mit.edu	37	chrX	50094305	50094305	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccccttggtcagacagctGaacaaactgctgactttcag	11	9	8	13	0	2	3	2	2	0	1	2	3	2	3	2	1	4	2	2	1	2	2			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:50094305G>A	ENST00000376042.1	+	12	4324	c.4026G>A	c.(4024-4026)ctG>ctA	p.L1342L	CCNB3_ENST00000376038.1_Silent_p.L238L|CCNB3_ENST00000348603.2_Silent_p.L238L|CCNB3_ENST00000276014.7_Silent_p.L1342L			Q8WWL7	CCNB3_HUMAN	cyclin B3	1342					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCAGACAGCTGAACAAACTGC	0.458													71	49					0	0	0	0	A	50094305	G	A	50094305	2	1	8	1	0	0	0	0	0	0	0	1	2943	1277	45	2		2	CCNB3	23	50094305	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	1311036	50094305	105176255	582	2450											
EFNB1	1947	broad.mit.edu	37	chrX	68058466	68058466	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccttctgggcaggttcctGagtgggaagggcttggtgat	5	13	16	7	0	1	2	0	2	1	0	3	3	3	3	2	5	0	3	2	5	1	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:68058466G>A	ENST00000204961.4	+	2	915	c.135G>A	c.(133-135)ctG>ctA	p.L45L		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	45					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GCAGGTTCCTGAGTGGGAAGG	0.592													17	11					0	0	0	0	A	68058466	G	A	68058466	2	1	8	1	0	0	0	0	0	0	0	1	4991	1277	45	2		2	EFNB1	23	68058466	Silent	SNP	G	TCGA-BA-5152-01A-02D-1870-08	17964161	68058466	87212094	583	2451											
DGAT2L6	347516	broad.mit.edu	37	chrX	69424864	69424864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagacagtagacaagtatCacgcactctacatcagtgcc	15	7	8	11	1	3	3	2	0	1	3	3	3	3	3	1	0	2	3	1	0	5	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:69424864C>G	ENST00000333026.3	+	7	1022	c.922C>G	c.(922-924)Cac>Gac	p.H308D		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	308					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						AGACAAGTATCACGCACTCTA	0.468													18	18					0	0	0	0	G	69424864	C	G	69424864	3	3	8	1	0	0	0	0	1	0	0	0	4496	826	29	2	948	2	DGAT2L6	23	69424864	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	1366398	69424864	85845696	584	2452											
NAP1L3	4675	broad.mit.edu	37	chrX	92927287	92927287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaggctaacatccgacaaGaacttcagaatgggctcatc	13	9	8	11	1	3	2	3	0	0	2	5	3	4	2	1	2	2	2	1	2	4	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:92927287G>C	ENST00000373079.3	-	1	1280	c.1017C>G	c.(1015-1017)ttC>ttG	p.F339L	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	339					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CATCCGACAAGAACTTCAGAA	0.423													14	27					0	0	0	0	C	92927287	G	C	92927287	3	2	8	1	0	0	0	0	1	0	0	0	10228	933	33	2	507	2	NAP1L3	23	92927287	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	23502423	92927287	62343273	585	2453											
GUCY2F	2986	broad.mit.edu	37	chrX	108625366	108625366	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccttgagctctgttcttcctCgaagctccacttcatagccc	6	13	6	16	1	3	1	1	1	2	0	6	2	5	1	4	0	3	3	4	0	2	5			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:108625366C>G	ENST00000218006.2	-	17	3422	c.3131G>C	c.(3130-3132)cGa>cCa	p.R1044P		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1044					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TGTTCTTCCTCGAAGCTCCAC	0.423													3	166					0	0	0	0	G	108625366	C	G	108625366	3	3	8	1	0	0	0	0	1	0	0	0	6948	884	31	3	207	3	GUCY2F	23	108625366	Missense_Mutation	SNP	C	TCGA-BA-5152-01A-02D-1870-08	15698079	108625366	46645194	586	2454											
WDR44	54521	broad.mit.edu	37	chrX	117530989	117530989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actggagaagaaatacctttGagtcttgcagaagagaaact	16	9	10	6	0	1	5	0	1	1	4	1	7	1	5	1	1	3	1	1	1	5	3			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:117530989G>C	ENST00000254029.3	+	7	1505	c.1110G>C	c.(1108-1110)ttG>ttC	p.L370F	WDR44_ENST00000371825.3_Missense_Mutation_p.L370F|WDR44_ENST00000371822.5_Missense_Mutation_p.L345F	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	370						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAATACCTTTGAGTCTTGCAG	0.363													33	42					0	0	0	0	C	117530989	G	C	117530989	3	2	8	1	0	0	0	0	1	0	0	0	17392	1281	45	2	1136	2	WDR44	23	117530989	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	8905623	117530989	37739571	587	2455											
EMD	2010	broad.mit.edu	37	chrX	153608306	153608306	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcctttcaatccagacttGaattcgactagaggggatgc	10	11	9	11	1	1	3	1	1	0	2	4	5	3	4	3	2	1	0	3	2	3	4			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:153608306G>C	ENST00000369842.4	+	3	480	c.192G>C	c.(190-192)ttG>ttC	p.L64F	EMD_ENST00000369835.3_Missense_Mutation_p.L29F|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	64	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATCCAGACTTGAATTCGACTA	0.567													69	100					0	0	0	0	C	153608306	G	C	153608306	3	2	8	1	0	0	0	0	1	0	0	0	5125	1281	45	2	202	2	EMD	23	153608306	Missense_Mutation	SNP	G	TCGA-BA-5152-01A-02D-1870-08	36077317	153608306	1662254	588	2456											
APITD1	378708	broad.mit.edu	37	chr1	10494743	10494743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagaccttgaaatgtttGcaaggtgggtagagaacttg	13	10	12	6	0	0	3	0	1	0	2	0	4	0	3	2	2	2	3	2	2	5	4			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:10494743G>A	ENST00000602787.1	+	3	621	c.205G>A	c.(205-207)Gca>Aca	p.A69T	APITD1_ENST00000462462.1_Intron|APITD1_ENST00000309048.3_Missense_Mutation_p.A69T|APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.A69T|APITD1_ENST00000602296.1_Missense_Mutation_p.A69T|APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000470413.2_Missense_Mutation_p.A69T	NM_198544.3	NP_940946.1			apoptosis-inducing, TAF9-like domain 1											kidney(1)|lung(1)|ovary(1)|stomach(1)	4	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		TGAAATGTTTGCAAGGTGGGT	0.418													8	162					0	0	0	0	A	10494743	G	A	10494743	3	1	9	1	0	0	0	0	1	0	0	0	776	1319	46	4	215	4	APITD1	1	10494743	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08		10494743	238755878	1	2457											
EIF4G3	8672	broad.mit.edu	37	chr1	21220080	21220080	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaaagtctggtcctcgaGgcaaaattcgaggatccaga	12	9	12	8	2	1	1	0	0	1	1	5	4	3	2	2	3	0	2	2	3	4	2			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:21220080G>C	ENST00000602326.1	-	16	2616	c.2033C>G	c.(2032-2034)cCt>cGt	p.P678R	EIF4G3_ENST00000374937.3_Missense_Mutation_p.P678R|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P672R|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374935.3_Missense_Mutation_p.P392R|EIF4G3_ENST00000264211.8_Missense_Mutation_p.P672R|EIF4G3_ENST00000537738.1_Missense_Mutation_p.P125R|EIF4G3_ENST00000544689.1_Missense_Mutation_p.P215R|EIF4G3_ENST00000536266.1_Missense_Mutation_p.P276R	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	672					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGTCCTCGAGGCAAAATTCG	0.463													46	83					0	0	0	0	C	21220080	G	C	21220080	3	2	9	1	0	0	0	0	1	0	0	0	5076	1000	35	4	2822	4	EIF4G3	1	21220080	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	10725337	21220080	228030541	2	2458											
PPP1R8	5511	broad.mit.edu	37	chr1	28167531	28167531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggttattcccagcacacgGcactttcttgggtcacattc	7	14	8	12	1	2	0	1	0	1	0	4	0	3	0	1	3	1	3	1	3	1	6			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:28167531G>A	ENST00000311772.5	+	4	336	c.278G>A	c.(277-279)gGc>gAc	p.G93D	PPP1R8_ENST00000373931.4_5'UTR|PPP1R8_ENST00000236412.7_Intron	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	93	FHA.|Interaction with CDC5L, SF3B1 and MELK.				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCACACGGCACTTTCTTG	0.468													5	250					0	0	0	0	A	28167531	G	A	28167531	3	1	9	1	0	0	0	0	1	0	0	0	12453	1203	42	4	292	4	PPP1R8	1	28167531	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	6947451	28167531	221083090	3	2459											
HIVEP3	59269	broad.mit.edu	37	chr1	42046335	42046335	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacttaacccagaagggccGggcccaacctcatgcacatc	11	6	8	16	1	2	1	2	0	0	1	3	1	2	1	4	2	3	1	4	2	3	1			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:42046335G>A	ENST00000372584.1	-	3	5148	c.4134C>T	c.(4132-4134)ccC>ccT	p.P1378P	HIVEP3_ENST00000372583.1_Silent_p.P1378P|HIVEP3_ENST00000429157.2_Silent_p.P1378P|HIVEP3_ENST00000247584.5_Silent_p.P1378P	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1378					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)				CAGAAGGGCCGGGCCCAACCT	0.527													105	134					0	0	0	0	A	42046335	G	A	42046335	2	1	9	1	0	0	0	0	0	0	0	1	7238	1103	39	1		1	HIVEP3	1	42046335	Silent	SNP	G	TCGA-BA-5153-01A-01D-1434-08	13878804	42046335	207204286	4	2460											
MRPL55	128308	broad.mit.edu	37	chr1	228295431	228295431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagccatcctgcttcaccaGcagcacggggtagagtcgtg	8	7	14	12	2	1	1	1	0	0	1	3	2	2	2	3	3	4	4	3	3	1	2			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:228295431G>T	ENST00000366731.5	-	5	1067	c.274C>A	c.(274-276)Ctg>Atg	p.L92M	MRPL55_ENST00000366732.1_Missense_Mutation_p.L53M|MRPL55_ENST00000336520.3_Missense_Mutation_p.L56M|MRPL55_ENST00000366733.1_Missense_Mutation_p.L56M|MRPL55_ENST00000336300.5_Missense_Mutation_p.L56M|MRPL55_ENST00000366741.1_Missense_Mutation_p.L56M|MRPL55_ENST00000430433.1_Missense_Mutation_p.L92M|MRPL55_ENST00000366742.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366740.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366736.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366746.3_Missense_Mutation_p.L56M|MRPL55_ENST00000411464.2_Missense_Mutation_p.L56M|MRPL55_ENST00000366738.1_Missense_Mutation_p.L92M|MRPL55_ENST00000366747.3_Missense_Mutation_p.L56M|MRPL55_ENST00000391867.3_Missense_Mutation_p.L56M|MRPL55_ENST00000366744.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366739.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366734.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366735.1_Missense_Mutation_p.L56M|MRPL55_ENST00000348259.5_Missense_Mutation_p.L56M|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000295008.4_Missense_Mutation_p.L56M			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	56					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				TGCTTCACCAGCAGCACGGGG	0.647													3	49					0.115264	0.1227	1	0	T	228295431	G	T	228295431	3	4	9	1	0	0	0	0	1	0	0	0	9889	962	34	4	228	4	MRPL55	1	228295431	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	186249096	228295431	20955190	5	2461											
SEMA4F	10505	broad.mit.edu	37	chr2	74883774	74883774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccgggacaccatcttcGctttatccctgcccttctca	5	11	7	18	3	2	0	1	0	2	0	5	1	3	1	4	1	1	1	4	1	1	4			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr2:74883774G>A	ENST00000357877.2	+	2	408	c.259G>A	c.(259-261)Gct>Act	p.A87T	SEMA4F_ENST00000339773.5_Missense_Mutation_p.A87T	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	87	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CACCATCTTCGCTTTATCCCT	0.527													68	131					0	0	0	0	A	74883774	G	A	74883774	3	1	9	1	0	0	0	0	1	0	0	0	14122	1087	38	1	265	1	SEMA4F	2	74883774	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08		74883774	168315599	6	2462											
C2orf68	388969	broad.mit.edu	37	chr2	85836569	85836569	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggcgtacctgatagacgaTaactgatgtgacctctccac	11	9	9	12	2	1	4	0	3	1	1	2	5	1	4	3	1	2	1	3	1	3	3			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr2:85836569T>A	ENST00000306336.5	-	3	411	c.367A>T	c.(367-369)Atc>Ttc	p.I123F	USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	123										breast(1)|central_nervous_system(1)|endometrium(1)	3						TGATAGACGATAACTGATGTG	0.542													170	299					0	0	0	0	A	85836569	T	A	85836569	3	1	9	1	0	0	0	0	1	0	0	0	2207	1406	49	5	141	5	C2orf68	2	85836569	Missense_Mutation	SNP	T	TCGA-BA-5153-01A-01D-1434-08	10952795	85836569	157362804	7	2463											
TTN	7273	broad.mit.edu	37	chr2	179568957	179568957	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctgctcgaacatctgcaAtggtcaatttatggactttg	9	15	8	9	1	3	0	1	0	2	0	4	2	3	1	0	2	3	2	0	2	4	4			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr2:179568957A>G	ENST00000589042.1	-	106	30364	c.30140T>C	c.(30139-30141)aTt>aCt	p.I10047T	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I9730T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I8803T|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9730	Glu-rich.						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)			AACATCTGCAATGGTCAATTT	0.413													91	181					0	0	0	0	G	179568957	A	G	179568957	3	3	9	1	0	0	0	0	1	0	0	0	16831	101	4	5	74417	5	TTN	2	179568957	Missense_Mutation	SNP	A	TCGA-BA-5153-01A-01D-1434-08	93732388	179568957	63630416	8	2464											
AGFG1	3267	broad.mit.edu	37	chr2	228416677	228416677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccttctcttctgtcagcgGcaacctttggcactgcatcc	5	12	8	16	1	3	0	1	0	2	0	5	0	4	0	3	2	3	3	3	2	1	3			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr2:228416677G>A	ENST00000310078.7	+	11	1641	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	AGFG1_ENST00000409315.1_Missense_Mutation_p.A440T|AGFG1_ENST00000409979.2_Missense_Mutation_p.A485T|AGFG1_ENST00000409171.1_Missense_Mutation_p.A461T|AGFG1_ENST00000373671.3_Missense_Mutation_p.A421T	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	461					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	p.A461S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCTGTCAGCGGCAACCTTTGG	0.458													4	231					0	0	0	0	A	228416677	G	A	228416677	3	1	9	1	0	0	0	0	1	0	0	0	380	1203	42	4	1499	4	AGFG1	2	228416677	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	48847720	228416677	14782696	9	2465											
DAZL	1618	broad.mit.edu	37	chr3	16640098	16640098	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttggagtttcaggatttGcagtagactgtaatttggaa	11	15	12	3	0	1	1	1	0	0	1	1	4	1	4	0	3	1	5	0	3	3	6			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:16640098G>T	ENST00000250863.8	-	2	358	c.71C>A	c.(70-72)gCa>gAa	p.A24E	DAZL_ENST00000399444.2_Missense_Mutation_p.A4E	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN	deleted in azoospermia-like	4					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity	p.A4E(1)	RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						TTCAGGATTTGCAGTAGACTG	0.358													4	229					0.184627	0.190397	1	0	T	16640098	G	T	16640098	3	4	9	1	0	0	0	0	1	0	0	0	4279	1319	46	4	916	4	DAZL	3	16640098	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08		16640098	181382332	10	2466											
PLCXD2	257068	broad.mit.edu	37	chr3	111432939	111432939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgaagaccattgcccgggGcttggttgggggcctcaaga	8	8	16	9	1	1	3	1	1	0	2	1	3	1	3	3	5	1	2	3	5	2	3			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:111432939G>T	ENST00000393934.3	+	3	1400	c.830G>T	c.(829-831)gGc>gTc	p.G277V	PLCXD2_ENST00000472215.1_3'UTR|PLCXD2_ENST00000477665.1_Missense_Mutation_p.G277V	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	277					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ATTGCCCGGGGCTTGGTTGGG	0.502													6	173					3.59834e-05	3.89328e-05	1	0	T	111432939	G	T	111432939	3	4	9	1	0	0	0	0	1	0	0	0	12114	1203	42	4	840	4	PLCXD2	3	111432939	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	94792841	111432939	86589491	11	2467											
MYLK	4638	broad.mit.edu	37	chr3	123385193	123385193	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgatctgagggggcattGctgagggaggacagggagaa	11	6	20	4	0	1	4	0	3	1	1	1	8	1	7	0	6	1	2	0	6	1	1			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:123385193G>A	ENST00000360772.3	-	23	4082	c.3703_splice	c.e23-1	p.A1235_splice	MYLK_ENST00000475616.1_Splice_Site_p.A1235_splice|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000360304.3_Splice_Site_p.A1235_splice|MYLK_ENST00000359169.1_Splice_Site_p.A1235_splice|MYLK_ENST00000354792.5_Splice_Site_p.A35_splice|MYLK_ENST00000346322.5_Splice_Site_p.A1166_splice			Q15746	MYLK_HUMAN	myosin light chain kinase	1235	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGGGGCATTGCTGAGGGAGG	0.557													42	166					0	0	0	0	A	123385193	G	A	123385193	5	1	9	1	0	0	0	0	0	0	1	0	10126	1333	46	4	2092	4	MYLK	3	123385193	Splice_Site	SNP	G	TCGA-BA-5153-01A-01D-1434-08	11952254	123385193	74637237	12	2468											
SMC4	10051	broad.mit.edu	37	chr3	160150245	160150245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaatgcttactttgggagggGacgccgaactcgagcttgta	10	10	13	8	3	0	0	0	0	0	0	1	4	0	2	1	3	4	3	1	3	4	4			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:160150245G>A	ENST00000357388.3	+	22	3923	c.3472G>A	c.(3472-3474)Gac>Aac	p.D1158N	SMC4_ENST00000462787.1_Missense_Mutation_p.D1100N|SMC4_ENST00000344722.5_Missense_Mutation_p.D1158N|SMC4_ENST00000469762.1_Missense_Mutation_p.D1133N|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.D1100N|TRIM59_ENST00000543469.1_3'UTR	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1158					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTGGGAGGGGACGCCGAACT	0.363													8	89					0	0	0	0	A	160150245	G	A	160150245	3	1	9	1	0	0	0	0	1	0	0	0	14873	1174	41	2	3554	2	SMC4	3	160150245	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	36765052	160150245	37872185	13	2469											
MUC20	200958	broad.mit.edu	37	chr3	195452996	195452997	+	Frame_Shift_Del	DEL	AG	AG	-																															ccactaacagcgccacagaaAgagaagtgacagcacccggg																										TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:195452996_195452997delAG	ENST00000320736.6	+	3	1135_1136	c.1009_1010delAG	c.(1009-1011)afs	p.R337fs	MUC20_ENST00000447234.2_Frame_Shift_Del_p.R508fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.R473fs|MUC20_ENST00000436408.1_Frame_Shift_Del_p.R508fs	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	508	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CGCCACAGAAAGAGAAGTGACA	0.604													14	126	---	---	---	---					-	195452997	AG	-	195452996	7	5	9	1	0	1	0	1	0	0	0	0	10046	64	3	0	1019	0	MUC20	3	195452996	Frame_Shift_Del	DEL	AG	TCGA-BA-5153-01A-01D-1434-08	35302751	195452996	2569434	14	2470											
FRYL	285527	broad.mit.edu	37	chr4	48529997	48529997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattactcactgatgggttCtttgggaggccagattctgg	7	14	13	7	0	3	3	1	2	2	1	3	4	3	4	1	4	1	1	1	4	1	4			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr4:48529997C>T	ENST00000537810.1	-	52	7735	c.7131G>A	c.(7129-7131)aaG>aaA	p.K2377K	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Silent_p.K2377K|FRYL_ENST00000503238.1_Silent_p.K2377K			O94915	FRYL_HUMAN	FRY-like	2377					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGATGGGTTCTTTGGGAGGC	0.373													5	152					0	0	0	0	T	48529997	C	T	48529997	2	4	9	1	0	0	0	0	0	0	0	1	6112	912	32	2		2	FRYL	4	48529997	Silent	SNP	C	TCGA-BA-5153-01A-01D-1434-08		48529997	142624279	15	2471											
PCDHB3	56132	broad.mit.edu	37	chr5	140480302	140480302	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctttgtttttctgggaggGtctctggctgggtccgagtc	2	16	14	9	1	3	0	0	0	3	0	6	2	4	1	1	4	0	2	1	4	0	3			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr5:140480302G>A	ENST00000231130.2	+	1	69	c.69G>A	c.(67-69)ggG>ggA	p.G23G	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		23					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTGGGAGGGTCTCTGGCTG	0.498													27	75					0	0	0	0	A	140480302	G	A	140480302	2	1	9	1	0	0	0	0	0	0	0	1	11614	1248	44	4		4	PCDHB3	5	140480302	Silent	SNP	G	TCGA-BA-5153-01A-01D-1434-08		140480302	40434958	16	2472											
SLC26A2	1836	broad.mit.edu	37	chr5	149357868	149357868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgacaaaagttgctatgCaattatggttggcagcactg	12	12	11	6	0	0	1	0	1	0	0	0	1	0	1	0	2	3	6	0	2	5	4			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr5:149357868C>T	ENST00000286298.4	+	2	921	c.653C>T	c.(652-654)gCa>gTa	p.A218V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	218						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTTGCTATGCAATTATGGTT	0.363													50	134					0	0	0	0	T	149357868	C	T	149357868	3	4	9	1	0	0	0	0	1	0	0	0	14605	710	25	4	655	4	SLC26A2	5	149357868	Missense_Mutation	SNP	C	TCGA-BA-5153-01A-01D-1434-08	8877566	149357868	31557392	17	2473											
OR2W1	26692	broad.mit.edu	37	chr6	29012436	29012436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaagaaatgatccagaaTgttgtttccacatgtgggca	14	10	9	8	0	0	3	0	1	0	2	2	3	2	3	2	1	0	3	2	1	3	2			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr6:29012436T>C	ENST00000377175.1	-	1	581	c.517A>G	c.(517-519)Att>Gtt	p.I173V		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TGATCCAGAATGTTGTTTCCA	0.378													62	105					0	0	0	0	C	29012436	T	C	29012436	3	2	9	1	0	0	0	0	1	0	0	0	11103	1464	51	5	449	5	OR2W1	6	29012436	Missense_Mutation	SNP	T	TCGA-BA-5153-01A-01D-1434-08		29012436	142102631	18	2474											
NEU1	4758	broad.mit.edu	37	chr6	31828219	31828219	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcatggactcctgacctgGcattcatcaggattgaaatc	10	12	8	11	0	3	2	3	2	1	0	6	4	4	4	2	3	0	1	2	3	1	2			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr6:31828219G>A	ENST00000375631.4	-	4	924	c.795C>T	c.(793-795)tgC>tgT	p.C265C		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	265						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	TCCTGACCTGGCATTCATCAG	0.557													4	163					0	0	0	0	A	31828219	G	A	31828219	2	1	9	1	0	0	0	0	0	0	0	1	10411	1195	42	4		4	NEU1	6	31828219	Silent	SNP	G	TCGA-BA-5153-01A-01D-1434-08	2815783	31828219	139286848	19	2475											
KCNK5	8645	broad.mit.edu	37	chr6	39159524	39159524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgtggtagttggcgctgggGttcacacctgagcggacagg	6	8	18	9	3	1	1	1	1	0	0	1	2	1	2	1	6	1	4	1	6	1	3			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr6:39159524G>T	ENST00000359534.3	-	5	980	c.642C>A	c.(640-642)aaC>aaA	p.N214K		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	214					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TGGCGCTGGGGTTCACACCTG	0.587													65	121					4.38816e-42	5.08103e-42	1	0	T	39159524	G	T	39159524	3	4	9	1	0	0	0	0	1	0	0	0	8122	1252	44	4	861	4	KCNK5	6	39159524	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	7331305	39159524	131955543	20	2476											
GRM1	2911	broad.mit.edu	37	chr6	146747715	146747715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagaggcagccagaattctCgcccaccagccaatgtccgt	11	6	10	14	2	1	2	0	0	1	2	3	3	2	2	5	1	2	1	5	1	3	1			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr6:146747715C>T	ENST00000392299.2	+	9	3151	c.2681C>T	c.(2680-2682)tCg>tTg	p.S894L	GRM1_ENST00000492807.2_Missense_Mutation_p.S894L|GRM1_ENST00000361719.2_Intron|GRM1_ENST00000282753.1_Intron|GRM1_ENST00000507907.1_Missense_Mutation_p.S894L|GRM1_ENST00000355289.4_Intron			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	0					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.S894W(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCAGAATTCTCGCCCACCAGC	0.493													4	21					0	0	0	0	T	146747715	C	T	146747715	3	4	9	1	0	0	0	0	1	0	0	0	6846	893	31	1	2711	1	GRM1	6	146747715	Missense_Mutation	SNP	C	TCGA-BA-5153-01A-01D-1434-08	107588191	146747715	24367352	21	2477											
CHPF2	54480	broad.mit.edu	37	chr7	150934838	150934838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaccggcgggccctggctCgcagggtcagcctgctgcgg	3	5	18	15	4	1	0	1	0	0	0	2	0	1	0	3	6	3	4	3	6	0	0			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr7:150934838C>T	ENST00000035307.2	+	4	2903	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	CHPF2_ENST00000495645.1_Missense_Mutation_p.R456C	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	464						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GGCCCTGGCTCGCAGGGTCAG	0.652													27	58					0	0	0	0	T	150934838	C	T	150934838	3	4	9	1	0	0	0	0	1	0	0	0	3398	884	31	1	1404	1	CHPF2	7	150934838	Missense_Mutation	SNP	C	TCGA-BA-5153-01A-01D-1434-08		150934838	8203825	22	2478											
RP1	6101	broad.mit.edu	37	chr8	55534066	55534066	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagggtcacccagagcttCgaggcatttctacagcacct	10	8	11	12	1	2	1	1	0	1	1	3	3	2	2	2	3	3	3	2	3	1	3			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr8:55534066C>T	ENST00000220676.1	+	2	688	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	180	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCCAGAGCTTCGAGGCATTTC	0.637													99	157					0	0	0	0	T	55534066	C	T	55534066	2	4	9	1	0	0	0	0	0	0	0	1	13617	883	31	1		1	RP1	8	55534066	Silent	SNP	C	TCGA-BA-5153-01A-01D-1434-08		55534066	90829956	23	2479											
PDE7A	5150	broad.mit.edu	37	chr8	66691967	66691967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacttacagtggaaaatacGaaaatcaatatatgggtgag	18	9	9	5	1	1	1	1	1	0	0	1	3	1	2	0	2	2	0	0	2	9	4			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr8:66691967G>A	ENST00000401827.3	-	3	714	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	PDE7A_ENST00000396642.3_Missense_Mutation_p.R91C|PDE7A_ENST00000379419.4_Missense_Mutation_p.R65C	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	91						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	TGGAAAATACGAAAATCAATA	0.353													8	191					0	0	0	0	A	66691967	G	A	66691967	3	1	9	1	0	0	0	0	1	0	0	0	11722	1058	37	1	1253	1	PDE7A	8	66691967	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	11157901	66691967	79672055	24	2480											
NOV	4856	broad.mit.edu	37	chr8	120428777	120428778	+	Frame_Shift_Del	DEL	AG	AG	-																															aggggaaagcctgagcatgcAgagtgtgcagagcacgagct																										TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr8:120428777_120428778delAG	ENST00000259526.3	+	1	232_233	c.5_6delAG	c.(4-6)cfs	p.Q2fs		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	2					regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGAGCATGCAGAGTGTGCAGA	0.55											OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	41	---	---	---	---					-	120428778	AG	-	120428777	7	5	9	1	0	1	0	1	0	0	0	0	10623	188	7	0	7	0	NOV	8	120428777	Frame_Shift_Del	DEL	AG	TCGA-BA-5153-01A-01D-1434-08	53736810	120428777	25935245	25	2481											
ASAP1	50807	broad.mit.edu	37	chr8	131130883	131130883	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccttgaaaacctatgaTctacatactttgcagtgata	12	15	5	9	0	2	3	0	3	2	0	3	3	3	3	2	0	4	1	2	0	6	7			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr8:131130883T>G	ENST00000357668.1	-	18	1673	c.1646A>C	c.(1645-1647)gAt>gCt	p.D549A	ASAP1_ENST00000518721.1_Missense_Mutation_p.D549A			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	549	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AAACCTATGATCTACATACTT	0.333													35	32					0	0	0	0	G	131130883	T	G	131130883	3	3	9	1	0	0	0	0	1	0	0	0	1014	1435	50	5	1791	5	ASAP1	8	131130883	Missense_Mutation	SNP	T	TCGA-BA-5153-01A-01D-1434-08	10702106	131130883	15233139	26	2482											
RECK	8434	broad.mit.edu	37	chr9	36110017	36110017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgctggcaatttggtgtGctctacccgcctttgcctca	4	16	9	12	1	2	0	1	0	1	0	2	0	2	0	3	2	4	3	3	2	2	5			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr9:36110017G>A	ENST00000377966.3	+	15	2395	c.1829G>A	c.(1828-1830)tGc>tAc	p.C610Y		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	610						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AATTTGGTGTGCTCTACCCGC	0.463													118	193					0	0	0	0	A	36110017	G	A	36110017	3	1	9	1	0	0	0	0	1	0	0	0	13282	1319	46	4	1887	4	RECK	9	36110017	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08		36110017	105103414	27	2483											
SPTAN1	6709	broad.mit.edu	37	chr9	131388129	131388129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagatcagcttctcgccGccaaacacgttcagtccaag	12	8	7	14	3	4	1	3	0	1	1	6	1	5	1	3	0	2	2	3	0	3	2			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr9:131388129G>A	ENST00000358161.5	+	48	6264	c.6151G>A	c.(6151-6153)Gcc>Acc	p.A2051T	SPTAN1_ENST00000372731.4_Missense_Mutation_p.A2046T|SPTAN1_ENST00000372739.3_Missense_Mutation_p.A2051T			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2046					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCTTCTCGCCGCCAAACACGT	0.582													6	314					0	0	0	0	A	131388129	G	A	131388129	3	1	9	1	0	0	0	0	1	0	0	0	15207	1087	38	1	6337	1	SPTAN1	9	131388129	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	95278112	131388129	9825302	28	2484											
PPFIBP2	8495	broad.mit.edu	37	chr11	7618879	7618879	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggacaccaggtgaaactcaAtgctgctgaagagatgcttc	13	8	11	9	0	1	3	1	2	0	1	2	5	1	4	1	2	4	3	1	2	3	1			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr11:7618879A>G	ENST00000299492.4	+	5	849	c.461A>G	c.(460-462)aAt>aGt	p.N154S	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.N42S|PPFIBP2_ENST00000533792.1_5'UTR	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	154					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTGAAACTCAATGCTGCTGAA	0.547													16	20					0	0	0	0	G	7618879	A	G	7618879	3	3	9	1	0	0	0	0	1	0	0	0	12385	101	4	5	475	5	PPFIBP2	11	7618879	Missense_Mutation	SNP	A	TCGA-BA-5153-01A-01D-1434-08		7618879	127387637	29	2485											
TMEM132A	54972	broad.mit.edu	37	chr11	60696185	60696185	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacacgggccgagctggccTacacgcttgagcctgcagct	7	6	12	16	3	0	1	0	1	0	0	0	2	0	1	4	2	5	4	4	2	1	2			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr11:60696185T>A	ENST00000005286.4	+	4	772	c.619T>A	c.(619-621)Tac>Aac	p.Y207N	TMEM132A_ENST00000453848.2_Missense_Mutation_p.Y207N	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	207						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CGAGCTGGCCTACACGCTTGA	0.692													28	38					0	0	0	0	A	60696185	T	A	60696185	3	1	9	1	0	0	0	0	1	0	0	0	16139	1522	53	5	633	5	TMEM132A	11	60696185	Missense_Mutation	SNP	T	TCGA-BA-5153-01A-01D-1434-08	53077306	60696185	74310331	30	2486											
DRD2	1813	broad.mit.edu	37	chr11	113283362	113283362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggtcttgagggaggtccGggttttgccattgggcatgg	5	12	17	7	1	1	1	0	1	1	0	2	2	2	2	2	6	1	2	2	6	0	4			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr11:113283362G>A	ENST00000362072.3	-	7	1398	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	DRD2_ENST00000542968.1_Missense_Mutation_p.R352W|DRD2_ENST00000355319.2_Missense_Mutation_p.R354W|DRD2_ENST00000538967.1_Missense_Mutation_p.R354W|DRD2_ENST00000346454.3_Missense_Mutation_p.R323W|DRD2_ENST00000544518.1_Missense_Mutation_p.R351W	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	352	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	AGGGAGGTCCGGGTTTTGCCA	0.567													52	41					0	0	0	0	A	113283362	G	A	113283362	3	1	9	1	0	0	0	0	1	0	0	0	4793	1115	39	1	285	1	DRD2	11	113283362	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	52587177	113283362	21723154	31	2487											
GRIK4	2900	broad.mit.edu	37	chr11	120732824	120732824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accatgtgcccttcactgggCctgcggtaagtacccgccag	7	8	11	15	2	1	0	1	0	0	0	1	0	1	0	5	2	3	2	5	2	2	3			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr11:120732824C>T	ENST00000527524.2	+	9	1188	c.901C>T	c.(901-903)Cct>Tct	p.P301S	GRIK4_ENST00000438375.2_Missense_Mutation_p.P301S			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	301					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTTCACTGGGCCTGCGGTAAG	0.562													142	232					0	0	0	0	T	120732824	C	T	120732824	3	4	9	1	0	0	0	0	1	0	0	0	6826	739	26	4	927	4	GRIK4	11	120732824	Missense_Mutation	SNP	C	TCGA-BA-5153-01A-01D-1434-08	7449462	120732824	14273692	32	2488											
OPCML	4978	broad.mit.edu	37	chr11	132527003	132527003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcactattaggtgaacccGggacgttttgggatgattgt	8	14	13	6	2	0	2	0	2	0	0	0	4	0	4	1	3	2	2	1	3	3	6			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr11:132527003G>A	ENST00000331898.7	-	2	957	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	OPCML_ENST00000524381.1_Missense_Mutation_p.R120W|OPCML_ENST00000374778.4_Missense_Mutation_p.R86W|OPCML_ENST00000541867.1_Missense_Mutation_p.R127W|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	127					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGGTGAACCCGGGACGTTTTG	0.502													31	87					0	0	0	0	A	132527003	G	A	132527003	3	1	9	1	0	0	0	0	1	0	0	0	10945	1115	39	1	682	1	OPCML	11	132527003	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	11794179	132527003	2479513	33	2489											
KRT2	3849	broad.mit.edu	37	chr12	53039156	53039156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggaactggaccctctacCtccagaacctccaaaggcag	11	6	8	16	1	1	1	0	0	1	1	4	3	4	3	6	3	3	1	6	3	4	1			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr12:53039156C>A	ENST00000309680.3	-	9	1588	c.1567G>T	c.(1567-1569)Ggt>Tgt	p.G523C		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	523	Tail.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GACCCTCTACCTCCAGAACCT	0.552													88	148					7.539e-32	8.57886e-32	1	0	A	53039156	C	A	53039156	3	1	9	1	0	0	0	0	1	0	0	0	8509	681	24	4	356	4	KRT2	12	53039156	Missense_Mutation	SNP	C	TCGA-BA-5153-01A-01D-1434-08		53039156	80812739	34	2490											
HAL	3034	broad.mit.edu	37	chr12	96379739	96379739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgcgatcacagaacctgtGactctctgtggaagaggtgg	10	8	14	9	2	2	3	1	1	1	2	3	6	2	4	1	3	1	0	1	3	2	0			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr12:96379739G>A	ENST00000261208.3	-	14	1521	c.1153C>T	c.(1153-1155)Cac>Tac	p.H385Y	HAL_ENST00000541929.1_Missense_Mutation_p.H177Y|HAL_ENST00000538703.1_Missense_Mutation_p.H385Y	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	385					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CAGAACCTGTGACTCTCTGTG	0.418													33	40					0	0	0	0	A	96379739	G	A	96379739	3	1	9	1	0	0	0	0	1	0	0	0	6997	1290	45	2	852	2	HAL	12	96379739	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	43340583	96379739	37472156	35	2491											
SIAH3	283514	broad.mit.edu	37	chr13	46357874	46357874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatccaatcagccggcgCggggaggtgcatgtccgtgg	7	7	17	10	4	1	1	1	1	0	0	3	3	3	2	3	5	2	1	3	5	1	0			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr13:46357874C>T	ENST00000400405.2	-	2	560	c.454G>A	c.(454-456)Gcg>Acg	p.A152T		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	152					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						TCAGCCGGCGCGGGGAGGTGC	0.617													27	19					0	0	0	0	T	46357874	C	T	46357874	3	4	9	1	0	0	0	0	1	0	0	0	14389	768	27	1	359	1	SIAH3	13	46357874	Missense_Mutation	SNP	C	TCGA-BA-5153-01A-01D-1434-08		46357874	68812004	36	2492											
SYNE2	23224	broad.mit.edu	37	chr14	64493344	64493344	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgccagaatagagaccatCatgaagcaggctgagagcag	15	5	13	8	0	1	4	1	2	0	3	1	7	1	4	2	1	3	3	2	1	3	1			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr14:64493344C>T	ENST00000358025.3	+	42	6530	c.6300C>T	c.(6298-6300)atC>atT	p.I2100I	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.I2100I|SYNE2_ENST00000554584.1_Silent_p.I2100I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2100					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAGAGACCATCATGAAGCAGG	0.448													17	9					0	0	0	0	T	64493344	C	T	64493344	2	4	9	1	0	0	0	0	0	0	0	1	15537	816	29	2		2	SYNE2	14	64493344	Silent	SNP	C	TCGA-BA-5153-01A-01D-1434-08		64493344	42856196	37	2493											
ERN2	10595	broad.mit.edu	37	chr16	23713534	23713534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtctctgcagttccactcCccagggtgggatggaccctc	5	11	11	14	0	1	0	0	0	1	0	5	2	3	2	4	3	1	2	4	3	0	2			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr16:23713534C>T	ENST00000256797.4	-	11	1454	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E	ERN2_ENST00000457008.2_Missense_Mutation_p.G381E	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	381					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGTTCCACTCCCCAGGGTGGG	0.617													112	190					0	0	0	0	T	23713534	C	T	23713534	3	4	9	1	0	0	0	0	1	0	0	0	5276	623	22	4	1686	4	ERN2	16	23713534	Missense_Mutation	SNP	C	TCGA-BA-5153-01A-01D-1434-08		23713534	66641219	38	2494											
CYLD	1540	broad.mit.edu	37	chr16	50820854	50820854	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggatttacctctgaagaaAaaggtgaccatcttaactta	15	11	7	8	0	2	3	0	2	2	1	2	4	2	4	2	2	2	0	2	2	6	4			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr16:50820854A>T	ENST00000540145.1	+	13	2453	c.2038A>T	c.(2038-2040)Aaa>Taa	p.K680*	CYLD_ENST00000566206.1_Nonsense_Mutation_p.K677*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.K680*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.K677*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.K680*|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Nonsense_Mutation_p.K677*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.K495*|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Nonsense_Mutation_p.K677*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	680					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CTCTGAAGAAAAAGGTGACCA	0.358			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				37	26					0	0	0	0	T	50820854	A	T	50820854	4	4	9	1	0	0	0	0	0	1	0	0	4175	15	1	5	2080	5	CYLD	16	50820854	Nonsense_Mutation	SNP	A	TCGA-BA-5153-01A-01D-1434-08	27107320	50820854	39533899	39	2495											
IRX6	79190	broad.mit.edu	37	chr16	55361590	55361590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggctcaacgagcaccGcaaaaacccctaccccacta	12	4	7	18	2	1	0	1	0	0	0	1	1	1	0	6	2	4	3	6	2	5	2	rs139251893	by1000genomes	TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr16:55361590G>A	ENST00000290552.7	+	4	1838	c.506G>A	c.(505-507)cGc>cAc	p.R169H	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	169						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AACGAGCACCGCAAAAACCCC	0.612													3	56					0	0	0	0	A	55361590	G	A	55361590	3	1	9	1	0	0	0	0	1	0	0	0	7901	1087	38	1	520	1	IRX6	16	55361590	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	4540736	55361590	34993163	40	2496											
CDH3	1001	broad.mit.edu	37	chr16	68729271	68729271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctactatggcgaagaggggGgtggcgaagaggaccaggtg	10	6	19	6	2	1	2	0	0	1	2	1	5	1	3	1	7	1	0	1	7	4	2			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr16:68729271G>A	ENST00000264012.4	+	14	2660	c.2116G>A	c.(2116-2118)Ggt>Agt	p.G706S	CDH3_ENST00000581171.1_Missense_Mutation_p.G651S|CDH3_ENST00000429102.2_Missense_Mutation_p.G706S	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	706					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CGAAGAGGGGGGTGGCGAAGA	0.587													14	6					0	0	0	0	A	68729271	G	A	68729271	3	1	9	1	0	0	0	0	1	0	0	0	3140	1232	43	4	2170	4	CDH3	16	68729271	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	13367681	68729271	21625482	41	2497											
SHBG	6462	broad.mit.edu	37	chr17	7533791	7533791	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggacaagagcctatcGctgtcatgacctttgacctc	9	9	9	14	1	1	3	1	2	0	1	3	4	1	4	4	1	1	1	4	1	2	2			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr17:7533791G>A	ENST00000575314.1	+	0	104				SHBG_ENST00000576728.1_De_novo_Start_OutOfFrame|SHBG_ENST00000576478.1_De_novo_Start_OutOfFrame|SHBG_ENST00000572182.1_De_novo_Start_OutOfFrame|SHBG_ENST00000575903.1_Missense_Mutation_p.A57T|SHBG_ENST00000340624.5_De_novo_Start_OutOfFrame|SHBG_ENST00000572262.1_De_novo_Start_OutOfFrame|SHBG_ENST00000416273.3_Missense_Mutation_p.A57T|SHBG_ENST00000570547.1_De_novo_Start_OutOfFrame|SHBG_ENST00000380450.4_Missense_Mutation_p.A57T|SHBG_ENST00000574539.1_De_novo_Start_OutOfFrame|SHBG_ENST00000441599.2_Missense_Mutation_p.A57T			P04278	SHBG_HUMAN	sex hormone-binding globulin						hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	AGAGCCTATCGCTGTCATGAC	0.537													58	108					0	0	0	0	A	7533791	G	A	7533791	1	1	9	1	0	0	0	0	0	0	0	0	14357	1087	38	1		1	SHBG	17	7533791	Translation_Start_Site	SNP	G	TCGA-BA-5153-01A-01D-1434-08		7533791	73661419	42	2498											
ASPSCR1	79058	broad.mit.edu	37	chr17	79954516	79954516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccgcagctgccccctttGttcctttctcgggtggggga	3	11	12	15	2	1	0	0	0	1	0	3	1	2	1	4	3	2	3	4	3	0	3			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr17:79954516G>C	ENST00000306729.7	+	7	824	c.727G>C	c.(727-729)Gtt>Ctt	p.V243L	ASPSCR1_ENST00000306739.4_Missense_Mutation_p.V243L|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.V166L	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	243							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGCCCCCTTTGTTCCTTTCTC	0.657			T	TFE3	alveolar soft part sarcoma								20	42					0	0	0	0	C	79954516	G	C	79954516	3	2	9	1	0	0	0	0	1	0	0	0	1063	1377	48	4	753	4	ASPSCR1	17	79954516	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	72420725	79954516	1240694	43	2499											
CHMP1B	57132	broad.mit.edu	37	chr18	11851812	11851812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggttaagtcgatggatgCgacattgaagaccatgaatc	12	11	12	6	2	0	3	0	2	0	1	2	6	0	4	1	2	1	1	1	2	3	2			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr18:11851812C>T	ENST00000526991.2	+	1	418	c.302C>T	c.(301-303)gCg>gTg	p.A101V	RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000269162.5_Intron|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000423027.3_Intron|GNAL_ENST00000535121.1_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	101					cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|lung(1)|urinary_tract(1)	3						TCGATGGATGCGACATTGAAG	0.532													4	194					0	0	0	0	T	11851812	C	T	11851812	3	4	9	1	0	0	0	0	1	0	0	0	3382	768	27	1	304	1	CHMP1B	18	11851812	Missense_Mutation	SNP	C	TCGA-BA-5153-01A-01D-1434-08		11851812	66225436	44	2500											
ZNF516	9658	broad.mit.edu	37	chr18	74091731	74091731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgacgcggtgccagatgCgtttgtgcatccacaggacc	8	8	13	12	3	0	2	0	1	0	1	1	3	1	3	3	2	4	3	3	2	0	1			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr18:74091731C>T	ENST00000443185.2	-	4	2656	c.2339G>A	c.(2338-2340)cGc>cAc	p.R780H	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	780					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GTGCCAGATGCGTTTGTGCAT	0.572													13	30					0	0	0	0	T	74091731	C	T	74091731	3	4	9	1	0	0	0	0	1	0	0	0	18055	768	27	1	1169	1	ZNF516	18	74091731	Missense_Mutation	SNP	C	TCGA-BA-5153-01A-01D-1434-08	62239919	74091731	3985517	45	2501											
GNA15	2769	broad.mit.edu	37	chr19	3148739	3148739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgatcgaggccatggagcGgctgcagattccattcagca	10	8	12	11	2	1	2	1	1	0	1	3	4	2	3	2	3	3	3	2	3	0	2			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr19:3148739G>A	ENST00000262958.3	+	2	554	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	99					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GCCATGGAGCGGCTGCAGATT	0.692													7	1					0	0	0	0	A	3148739	G	A	3148739	3	1	9	1	0	0	0	0	1	0	0	0	6554	1116	39	1	302	1	GNA15	19	3148739	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08		3148739	55980244	46	2502											
DENND1C	79958	broad.mit.edu	37	chr19	6477435	6477435	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccagacagggactgctgaAacagattttgaagaagttcc	13	8	11	9	0	0	5	0	2	0	3	1	6	1	6	2	1	2	2	2	1	3	3			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr19:6477435A>G	ENST00000381480.2	-	7	513	c.401T>C	c.(400-402)tTt>tCt	p.F134S	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.F90S	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	134	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GGACTGCTGAAACAGATTTTG	0.627													19	19					0	0	0	0	G	6477435	A	G	6477435	3	3	9	1	0	0	0	0	1	0	0	0	4465	14	1	5	2072	5	DENND1C	19	6477435	Missense_Mutation	SNP	A	TCGA-BA-5153-01A-01D-1434-08	3328696	6477435	52651548	47	2503											
ZNF429	353088	broad.mit.edu	37	chr19	21719158	21719158	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttccaaaaagtgacactgagGagatatgataaacgtggaca	17	8	10	6	1	0	4	0	3	0	1	1	6	1	5	1	2	1	0	1	2	5	3			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr19:21719158G>A	ENST00000358491.4	+	4	511	c.303G>A	c.(301-303)agG>agA	p.R101R	ZNF429_ENST00000597078.1_Intron|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TGACACTGAGGAGATATGATA	0.328													5	45					0	0	0	0	A	21719158	G	A	21719158	2	1	9	1	0	0	0	0	0	0	0	1	17997	1165	41	2		2	ZNF429	19	21719158	Silent	SNP	G	TCGA-BA-5153-01A-01D-1434-08	15241723	21719158	37409825	48	2504											
KCNK15	60598	broad.mit.edu	37	chr20	43378887	43378887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcgaacggctgaacgCggtggtgcggcgcctcctgt	4	7	17	13	6	0	1	0	1	0	0	1	2	1	1	3	5	3	1	3	5	2	0			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr20:43378887C>T	ENST00000372861.3	+	2	532	c.401C>T	c.(400-402)gCg>gTg	p.A134V		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	134						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CGGCTGAACGCGGTGGTGCGG	0.682													3	18					0	0	0	0	T	43378887	C	T	43378887	3	4	9	1	0	0	0	0	1	0	0	0	8115	768	27	1	407	1	KCNK15	20	43378887	Missense_Mutation	SNP	C	TCGA-BA-5153-01A-01D-1434-08		43378887	19646633	49	2505											
MYH9	4627	broad.mit.edu	37	chr22	36685234	36685234	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctccatggcttcctccAgggcccgggccagcgacaga	6	7	12	16	2	1	1	0	0	1	1	4	2	4	1	5	3	2	2	5	3	0	1			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr22:36685234A>G	ENST00000216181.5	-	32	4684	c.4454T>C	c.(4453-4455)cTg>cCg	p.L1485P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1485					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGCTTCCTCCAGGGCCCGGGC	0.627			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				24	47					0	0	0	0	G	36685234	A	G	36685234	3	3	9	1	0	0	0	0	1	0	0	0	10112	188	7	5	1468	5	MYH9	22	36685234	Missense_Mutation	SNP	A	TCGA-BA-5153-01A-01D-1434-08		36685234	14619332	50	2506											
PHF5A	84844	broad.mit.edu	37	chr22	41863565	41863565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttacactcatcacatatgcGcaccagagtgcagggacgca	12	7	10	12	2	2	1	2	0	0	1	2	2	2	2	1	1	3	4	1	1	2	2			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr22:41863565G>A	ENST00000216252.3	-	3	201	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	44					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TCACATATGCGCACCAGAGTG	0.493													43	60					0	0	0	0	A	41863565	G	A	41863565	3	1	9	1	0	0	0	0	1	0	0	0	11909	1087	38	1	210	1	PHF5A	22	41863565	Missense_Mutation	SNP	G	TCGA-BA-5153-01A-01D-1434-08	5178331	41863565	9441001	51	2507											
RCC2	55920	broad.mit.edu	37	chr1	17743045	17743045	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagaatctgtccatctttCgtcttctcaatgaagatggc	9	13	9	10	1	4	3	1	1	4	2	7	3	5	3	1	2	0	1	1	2	3	2	rs11588635	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:17743045C>T	ENST00000375436.4	-	8	1144	c.957G>A	c.(955-957)acG>acA	p.T319T	RCC2_ENST00000375433.3_Silent_p.T319T	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	319					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GTCCATCTTTCGTCTTCTCAA	0.547													7	99					0	0	0	0	T	17743045	C	T	17743045	2	4	10	1	0	0	0	0	0	0	0	1	13256	871	31	1		1	RCC2	1	17743045	Silent	SNP	C	TCGA-BA-5555-01A-01D-1512-08		17743045	231507576	1	2508											
CAPZB	832	broad.mit.edu	37	chr1	19670883	19670884	+	Frame_Shift_Ins	INS	-	-	A																															acgatatcctttgtttttccINSaaagtagatctcgttcagcg																								rs138529514	by1000genomes	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:19670883_19670884insA	ENST00000401084.2	-	8	832_833	c.699_700insT	c.(697-702)ttgaaafs	p.LK233fs	CAPZB_ENST00000375144.1_Frame_Shift_Ins_p.LK221fs|CAPZB_ENST00000264203.3_Intron|CAPZB_ENST00000433834.1_Frame_Shift_Ins_p.LK262fs|CAPZB_ENST00000264202.6_Frame_Shift_Ins_p.LK233fs|CAPZB_ENST00000375142.1_Frame_Shift_Ins_p.LK233fs	NM_004930.3	NP_004921.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	233					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TTTGTTTTTCCAAAGTAGATCT	0.485											OREG0013171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	98	---	---	---	---					A	19670884	-	A	19670883	7	5	10	1	0	1	1	0	0	0	0	0	2668	603	21	0	126	0	CAPZB	1	19670883	Frame_Shift_Ins	INS	-	TCGA-BA-5555-01A-01D-1512-08	1927838	19670883	229579738	2	2509											
PHC2	1912	broad.mit.edu	37	chr1	33820075	33820075	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatggcagtgacaatagcCtgctgatgtggtgatgggcc	8	9	16	8	0	0	3	0	3	0	0	0	3	0	3	2	4	2	3	2	4	2	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:33820075C>T	ENST00000257118.5	-	8	1535	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	PHC2_ENST00000373422.3_Silent_p.Q100Q|PHC2_ENST00000419414.2_Silent_p.Q495Q|PHC2_ENST00000431992.1_Silent_p.Q465Q|PHC2_ENST00000373416.1_5'UTR|RP11-415J8.5_ENST00000432703.1_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	494					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGACAATAGCCTGCTGATGTG	0.607													43	63					0	0	0	0	T	33820075	C	T	33820075	2	4	10	1	0	0	0	0	0	0	0	1	11889	680	24	4		4	PHC2	1	33820075	Silent	SNP	C	TCGA-BA-5555-01A-01D-1512-08	14149192	33820075	215430546	3	2510											
DMRTB1	63948	broad.mit.edu	37	chr1	53925281	53925281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccagaagatcatggccgCgcagaaggtgctcaagacgc	11	4	14	12	4	2	4	2	0	0	4	2	4	2	4	2	2	1	2	2	2	3	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:53925281C>A	ENST00000371445.3	+	1	210	c.155C>A	c.(154-156)gCg>gAg	p.A52E		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	52					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						ATCATGGCCGCGCAGAAGGTG	0.697													4	8					0.00909568	0.00942558	1	0	A	53925281	C	A	53925281	3	1	10	1	0	0	0	0	1	0	0	0	4627	768	27	3	157	3	DMRTB1	1	53925281	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	20105206	53925281	195325340	4	2511											
SSX2IP	117178	broad.mit.edu	37	chr1	85135504	85135504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaatttagtacagctactaTatttaactctctctttgtct	11	18	3	9	0	3	0	0	0	3	0	4	0	3	0	0	0	4	2	0	0	7	9			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:85135504T>C	ENST00000437941.2	-	3	557	c.205A>G	c.(205-207)Ata>Gta	p.I69V	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000342203.3_Missense_Mutation_p.I96V|SSX2IP_ENST00000605755.1_Missense_Mutation_p.I69V|SSX2IP_ENST00000370612.4_Missense_Mutation_p.I96V	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	96					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACAGCTACTATATTTAACTCT	0.368													67	107					0	0	0	0	C	85135504	T	C	85135504	3	2	10	1	0	0	0	0	1	0	0	0	15294	1406	49	5	1602	5	SSX2IP	1	85135504	Missense_Mutation	SNP	T	TCGA-BA-5555-01A-01D-1512-08	31210223	85135504	164115117	5	2512											
SH3GLB1	51100	broad.mit.edu	37	chr1	87188228	87188228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcctttgcaggtaatGcccttattaaatgtggagaa	11	16	8	6	0	0	1	0	0	0	1	1	2	1	1	2	2	2	2	2	2	5	6			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:87188228G>A	ENST00000370558.4	+	4	673	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.A17T|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.A117T	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	117	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TGCAGGTAATGCCCTTATTAA	0.308													32	189					0	0	0	0	A	87188228	G	A	87188228	3	1	10	1	0	0	0	0	1	0	0	0	14341	1319	46	4	363	4	SH3GLB1	1	87188228	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	2052724	87188228	162062393	6	2513											
CDC14A	8556	broad.mit.edu	37	chr1	100964649	100964649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaactaccagaaattaccCtgagctcaacaataatcagt	16	8	5	12	0	2	2	2	1	0	1	2	2	2	2	3	0	5	1	3	0	7	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:100964649C>T	ENST00000336454.3	+	15	1941	c.1586C>T	c.(1585-1587)cCt>cTt	p.P529L	CDC14A_ENST00000544534.1_Missense_Mutation_p.P529L|CDC14A_ENST00000542213.1_Missense_Mutation_p.P471L|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.P529L	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	529					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGAAATTACCCTGAGCTCAAC	0.547													33	52					0	0	0	0	T	100964649	C	T	100964649	3	4	10	1	0	0	0	0	1	0	0	0	3085	681	24	4	1659	4	CDC14A	1	100964649	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	13776421	100964649	148285972	7	2514											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112999521	112999521	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccacaaatttcagtcccaAgcagatcaggaccaacaagc	15	5	7	14	1	2	1	2	0	0	1	3	2	3	2	3	1	3	1	3	1	4	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:112999521A>T	ENST00000271277.6	+	6	1632	c.1407A>T	c.(1405-1407)caA>caT	p.Q469H	CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	469						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCAGTCCCAAGCAGATCAGG	0.552													32	123					0	0	0	0	T	112999521	A	T	112999521	3	4	10	1	0	0	0	0	1	0	0	0	4078	69	3	5	1421	5	CTTNBP2NL	1	112999521	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	12034872	112999521	136251100	8	2515											
CASQ2	845	broad.mit.edu	37	chr1	116280898	116280898	+	Missense_Mutation	SNP	C	C	G																															gtttgatgtagtcttcaatgCgttcgaaggcttggacttcc																										TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:116280898C>G	ENST00000261448.5	-	4	718	c.479G>C	c.(478-480)cGc>cCc	p.R160P	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	160					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.R160L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTCTTCAATGCGTTCGAAGGC	0.448													105	211					0	0	0	0	G	116280898	C	G	116280898	3	3	10	1	0	0	0	0	1	0	0	0	2706	768	27	3	752	3	CASQ2	1	116280898	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	3281377	116280898	132969723	9	2516	31	2									
CASQ2	845	broad.mit.edu	37	chr1	116280899	116280899	+	Missense_Mutation	SNP	G	G	A																															tttgatgtagtcttcaatgcGttcgaaggcttggacttcca																										TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:116280899G>A	ENST00000261448.5	-	4	717	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	160					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCTTCAATGCGTTCGAAGGCT	0.443													107	211					0	0	0	0	A	116280899	G	A	116280899	3	1	10	1	0	0	0	0	1	0	0	0	2706	1145	40	1	753	1	CASQ2	1	116280899	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	1	116280899	132969722	10	2517	31	2									
GON4L	54856	broad.mit.edu	37	chr1	155747430	155747430	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgctgcatctgctgctGgagtctcttcctctgtgctg	3	15	10	13	0	3	0	0	0	3	0	5	1	4	1	2	1	6	5	2	1	1	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:155747430G>A	ENST00000437809.1	-	15	2196	c.2074C>T	c.(2074-2076)Cag>Tag	p.Q692*	GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q692*|GON4L_ENST00000368331.1_Nonsense_Mutation_p.Q692*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q692*|GON4L_ENST00000471341.1_5'UTR			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	692					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATCTGCTGCTGGAGTCTCTTC	0.473													91	165					0	0	0	0	A	155747430	G	A	155747430	4	1	10	1	0	0	0	0	0	1	0	0	6620	1357	47	4	4837	4	GON4L	1	155747430	Nonsense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	39466531	155747430	93503191	11	2518											
OR10R2	343406	broad.mit.edu	37	chr1	158449897	158449897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggataaaagcctccacaCaccaatgtacttcttccttg	11	11	5	14	0	1	0	0	0	1	0	3	1	3	1	5	1	2	1	5	1	4	5			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:158449897C>A	ENST00000368152.1	+	1	230	c.230C>A	c.(229-231)aCa>aAa	p.T77K	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AGCCTCCACACACCAATGTAC	0.433													189	345					1.4103e-80	1.89302e-80	1	0	A	158449897	C	A	158449897	3	1	10	1	0	0	0	0	1	0	0	0	10988	478	17	4	232	4	OR10R2	1	158449897	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	2702467	158449897	90800724	12	2519											
OR10Z1	128368	broad.mit.edu	37	chr1	158576337	158576337	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctctctctgtatctaGtcactctgaccagcaatgtc	7	15	6	13	0	5	1	1	1	4	0	8	1	6	1	2	0	1	3	2	0	3	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:158576337G>C	ENST00000361284.1	+	1	109	c.109G>C	c.(109-111)Gtc>Ctc	p.V37L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V37I(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTGTATCTAGTCACTCTGAC	0.498													123	315					0	0	0	0	C	158576337	G	C	158576337	3	2	10	1	0	0	0	0	1	0	0	0	10994	1029	36	4	111	4	OR10Z1	1	158576337	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	126440	158576337	90674284	13	2520											
PFDN2	5202	broad.mit.edu	37	chr1	161072167	161072167	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttgaagccagcaatcaccTaacaaggtgagagaagagat	16	6	12	7	0	1	4	1	2	0	2	1	6	1	4	2	2	3	2	2	2	5	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:161072167T>C	ENST00000368010.3	-	2	160		c.e2-2		PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2						'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCAATCACCTAACAAGGTGA	0.522													3	92					0	0	0	0	C	161072167	T	C	161072167	5	2	10	1	0	0	0	0	0	0	1	0	11828	1536	53	5	402	5	PFDN2	1	161072167	Splice_Site	SNP	T	TCGA-BA-5555-01A-01D-1512-08	2495830	161072167	88178454	14	2521											
FCRLA	84824	broad.mit.edu	37	chr1	161681106	161681106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactcaggtgaccttctaccGagatggctcagctctgggtc	7	10	12	12	1	4	2	2	1	2	1	5	4	4	2	2	3	2	2	2	3	1	2	rs145034072		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:161681106G>A	ENST00000367959.2	+	4	652	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	FCRLA_ENST00000349527.4_Missense_Mutation_p.R114Q|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.R120Q|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.R120Q|FCRLA_ENST00000236938.6_Missense_Mutation_p.R131Q|FCRLA_ENST00000470841.1_3'UTR	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	114	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACCTTCTACCGAGATGGCTCA	0.592													38	75					0	0	0	0	A	161681106	G	A	161681106	3	1	10	1	0	0	0	0	1	0	0	0	5845	1058	37	1	424	1	FCRLA	1	161681106	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	608939	161681106	87569515	15	2522											
PAPPA2	60676	broad.mit.edu	37	chr1	176668369	176668369	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctgctcttccaacacccGgtccaagccgacaccctcac	9	6	7	19	2	2	0	1	0	1	0	4	2	4	0	5	1	4	2	5	1	2	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:176668369G>T	ENST00000367662.3	+	8	4044	c.2880G>T	c.(2878-2880)ccG>ccT	p.P960P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	960					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCAACACCCGGTCCAAGCCG	0.572													91	281					1.19196e-48	1.52995e-48	1	0	T	176668369	G	T	176668369	2	4	10	1	0	0	0	0	0	0	0	1	11504	1103	39	3		3	PAPPA2	1	176668369	Silent	SNP	G	TCGA-BA-5555-01A-01D-1512-08	14987263	176668369	72582252	16	2523											
CFHR2	3080	broad.mit.edu	37	chr1	196928027	196928027	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatccatgtgtaatatcAcaagaaattatggaaaaata	19	11	6	5	0	2	2	2	0	0	2	3	3	3	3	1	1	0	1	1	1	8	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:196928027A>G	ENST00000367415.4	+	5	744	c.630A>G	c.(628-630)tcA>tcG	p.S210S	CFHR2_ENST00000367421.3_Silent_p.S210S|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	210	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GTGTAATATCACAAGAAATTA	0.274													41	75					0	0	0	0	G	196928027	A	G	196928027	2	3	10	1	0	0	0	0	0	0	0	1	3314	146	6	5		5	CFHR2	1	196928027	Silent	SNP	A	TCGA-BA-5555-01A-01D-1512-08	20259658	196928027	52322594	17	2524											
JMJD4	65094	broad.mit.edu	37	chr1	227921284	227921284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccgtggcggtcccgcaggGcctcttcctgccctgggggg	1	8	17	15	3	1	0	0	0	1	0	3	0	3	0	5	6	2	1	5	6	0	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:227921284G>A	ENST00000366758.3	-	4	790	c.791C>T	c.(790-792)gCc>gTc	p.A264V	SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000485807.1_5'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.A264V	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	264	JmjC.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GTCCCGCAGGGCCTCTTCCTG	0.637													4	30					0	0	0	0	A	227921284	G	A	227921284	3	1	10	1	0	0	0	0	1	0	0	0	8004	1203	42	4	612	4	JMJD4	1	227921284	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	30993257	227921284	21329337	18	2525											
TRIM67	440730	broad.mit.edu	37	chr1	231349664	231349664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcagcagggccccacaGccttcagccacgtggacggg	8	3	15	15	2	1	0	1	0	0	0	1	1	1	1	4	4	4	3	4	4	0	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:231349664G>A	ENST00000444294.3	+	9	3079	c.2221G>A	c.(2221-2223)Gcc>Acc	p.A741T	TRIM67_ENST00000449018.3_Missense_Mutation_p.A681T|TRIM67_ENST00000366653.5_Missense_Mutation_p.A743T|TRIM67_ENST00000366652.2_Missense_Mutation_p.A743T	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	743	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGGCCCCACAGCCTTCAGCCA	0.652													30	42					0	0	0	0	A	231349664	G	A	231349664	3	1	10	1	0	0	0	0	1	0	0	0	16635	971	34	4	2261	4	TRIM67	1	231349664	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	3428380	231349664	17900957	19	2526											
OR2T1	26696	broad.mit.edu	37	chr1	248570029	248570029	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtgcagacacagccctctAcgagacagtgatgtatgtgt	11	10	11	9	1	1	3	0	1	1	2	1	4	1	3	1	0	3	2	1	0	2	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:248570029A>G	ENST00000366474.1	+	1	734	c.734A>G	c.(733-735)tAc>tGc	p.Y245C		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGCCCTCTACGAGACAGTG	0.493													78	86					0	0	0	0	G	248570029	A	G	248570029	3	3	10	1	0	0	0	0	1	0	0	0	11087	391	14	5	736	5	OR2T1	1	248570029	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	17220365	248570029	680592	20	2527											
TTC27	55622	broad.mit.edu	37	chr2	32891707	32891707	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttattgttttttcaggtgctTtgggaaaaagaacacggttc	10	16	10	5	1	1	1	1	0	0	1	2	2	1	2	0	3	2	3	0	3	4	7			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:32891707T>A	ENST00000317907.4	+	7	1042	c.811T>A	c.(811-813)Ttg>Atg	p.L271M		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	271							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTCAGGTGCTTTGGGAAAAAG	0.368													57	101					0	0	0	0	A	32891707	T	A	32891707	3	1	10	1	0	0	0	0	1	0	0	0	16791	1838	64	5	837	5	TTC27	2	32891707	Missense_Mutation	SNP	T	TCGA-BA-5555-01A-01D-1512-08		32891707	210307666	21	2528											
EPAS1	2034	broad.mit.edu	37	chr2	46603862	46603862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcccagctggctcccaccCcaggagacgccatcatctct	7	7	9	18	1	2	1	1	0	1	1	4	2	3	1	5	3	1	2	5	3	0	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:46603862C>A	ENST00000263734.3	+	9	1729	c.1219C>A	c.(1219-1221)Cca>Aca	p.P407T		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	407					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGCTCCCACCCCAGGAGACGC	0.562													80	188					2.67039e-37	3.35898e-37	1	0	A	46603862	C	A	46603862	3	1	10	1	0	0	0	0	1	0	0	0	5188	623	22	4	1253	4	EPAS1	2	46603862	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	13712155	46603862	196595511	22	2529											
RTN4	57142	broad.mit.edu	37	chr2	55252252	55252252	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcagctctgctgaaaataTagcagatggtgatctgtcct	11	12	9	9	0	3	3	1	2	2	1	4	3	4	3	1	1	3	3	1	1	4	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:55252252T>C	ENST00000337526.6	-	3	3226	c.2983A>G	c.(2983-2985)Ata>Gta	p.I995V	RTN4_ENST00000394611.2_Missense_Mutation_p.I789V|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.I789V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.I763V|RTN4_ENST00000404909.1_Missense_Mutation_p.I789V|RTN4_ENST00000405240.1_Missense_Mutation_p.I789V|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	995					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GCTGAAAATATAGCAGATGGT	0.378													64	160					0	0	0	0	C	55252252	T	C	55252252	3	2	10	1	0	0	0	0	1	0	0	0	13813	1406	49	5	661	5	RTN4	2	55252252	Missense_Mutation	SNP	T	TCGA-BA-5555-01A-01D-1512-08	8648390	55252252	187947121	23	2530											
NMS	129521	broad.mit.edu	37	chr2	101089969	101089969	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctggcatattgtctgAgtcagtgggcacctctttct	7	13	11	10	0	4	1	1	1	3	0	4	1	4	1	1	2	2	4	1	2	1	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:101089969A>T	ENST00000376865.1	+	3	158	c.151A>T	c.(151-153)Agt>Tgt	p.S51C		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	51					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						ATATTGTCTGAGTCAGTGGGC	0.318													16	45					0	0	0	0	T	101089969	A	T	101089969	3	4	10	1	0	0	0	0	1	0	0	0	10572	304	11	5	161	5	NMS	2	101089969	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	45837717	101089969	142109404	24	2531											
MAP4K4	9448	broad.mit.edu	37	chr2	102452401	102452401	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgagagcactgtttctcaTtcccagaaaccctcctcccc	10	10	5	16	0	1	2	1	1	1	2	5	3	4	2	5	0	2	2	5	0	2	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:102452401T>G	ENST00000413150.2	+	9	789	c.734T>G	c.(733-735)aTt>aGt	p.I245S	MAP4K4_ENST00000350878.4_Missense_Mutation_p.I225S|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000347699.4_Missense_Mutation_p.I245S|MAP4K4_ENST00000324219.4_Missense_Mutation_p.I245S|MAP4K4_ENST00000350198.4_Missense_Mutation_p.I245S|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000425019.1_Missense_Mutation_p.I245S	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	245	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGTTTCTCATTCCCAGAAAC	0.408													15	50					0	0	0	0	G	102452401	T	G	102452401	3	3	10	1	0	0	0	0	1	0	0	0	9331	1493	52	5	768	5	MAP4K4	2	102452401	Missense_Mutation	SNP	T	TCGA-BA-5555-01A-01D-1512-08	1362432	102452401	140746972	25	2532											
SULT1C3	442038	broad.mit.edu	37	chr2	108863794	108863794	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaagccaagcctgatgaTcttattctggcaacttaccc	10	12	6	13	0	2	2	0	2	2	0	3	2	3	2	4	1	4	1	4	1	5	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:108863794T>C	ENST00000376700.1	+	1	144	c.144T>C	c.(142-144)gaT>gaC	p.D48D	SULT1C3_ENST00000329106.2_Silent_p.D48D			Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	48						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AGCCTGATGATCTTATTCTGG	0.338													19	173					0	0	0	0	C	108863794	T	C	108863794	2	2	10	1	0	0	0	0	0	0	0	1	15468	1432	50	5		5	SULT1C3	2	108863794	Silent	SNP	T	TCGA-BA-5555-01A-01D-1512-08	6411393	108863794	134335579	26	2533											
ANAPC1	64682	broad.mit.edu	37	chr2	112638249	112638249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccaagccagcagcaccatCagaagaccataattcagaag	17	4	7	13	0	2	3	2	0	0	3	2	3	2	3	4	0	3	2	4	0	4	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:112638249C>T	ENST00000341068.3	-	2	926	c.154G>A	c.(154-156)Gat>Aat	p.D52N	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	52					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GCAGCACCATCAGAAGACCAT	0.473													11	57					0	0	0	0	T	112638249	C	T	112638249	3	4	10	1	0	0	0	0	1	0	0	0	598	826	29	2	5868	2	ANAPC1	2	112638249	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	3774455	112638249	130561124	27	2534											
SLC35F5	80255	broad.mit.edu	37	chr2	114501302	114501302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttacttttttcagtatCaatgtttgtgctctcaggtt	6	21	7	7	0	3	0	3	0	1	0	4	0	3	0	0	1	3	5	0	1	3	8			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:114501302C>A	ENST00000245680.2	-	6	963	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	SLC35F5_ENST00000409342.1_Missense_Mutation_p.D178Y	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	184					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TTTTCAGTATCAATGTTTGTG	0.358													70	218					1.37693e-34	1.72117e-34	1	0	A	114501302	C	A	114501302	3	1	10	1	0	0	0	0	1	0	0	0	14680	826	29	2	1061	2	SLC35F5	2	114501302	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	1863053	114501302	128698071	28	2535											
PTPN4	5775	broad.mit.edu	37	chr2	120718402	120718402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggaaattccttcttccaGcattataaatcagtacattg	13	14	6	8	0	2	0	1	0	1	0	4	2	4	1	2	1	2	2	2	1	5	7			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:120718402G>T	ENST00000263708.2	+	23	2924	c.2153G>T	c.(2152-2154)aGc>aTc	p.S718I	PTPN4_ENST00000544261.1_Missense_Mutation_p.S351I	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	718	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCTTCTTCCAGCATTATAAAT	0.358													67	155					1.20466e-24	1.41725e-24	1	0	T	120718402	G	T	120718402	3	4	10	1	0	0	0	0	1	0	0	0	12872	971	34	4	2239	4	PTPN4	2	120718402	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	6217100	120718402	122480971	29	2536											
POTEE	445582	broad.mit.edu	37	chr2	132020968	132020968	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaagacgtcttgcatgAaaatagtacgttgcgggaag	16	8	12	5	3	1	3	0	1	1	2	1	4	1	4	0	1	3	3	0	1	7	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:132020968A>G	ENST00000356920.5	+	15	2034	c.1940A>G	c.(1939-1941)gAa>gGa	p.E647G	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	647							ATP binding										GTCTTGCATGAAAATAGTACG	0.348													26	52					0	0	0	0	G	132020968	A	G	132020968	3	3	10	1	0	0	0	0	1	0	0	0	12336	246	9	5	1998	5	POTEE	2	132020968	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	11302566	132020968	111178405	30	2537											
ARL6IP6	151188	broad.mit.edu	37	chr2	153591558	153591558	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggattctcctgttgcAgcttttcttggacagtgact	5	16	10	10	0	2	1	0	1	2	0	3	3	2	3	1	2	3	4	1	2	0	5			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:153591558A>T	ENST00000326446.5	+	3	1216	c.505A>T	c.(505-507)Agc>Tgc	p.S169C	ARL6IP6_ENST00000463690.1_3'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	169						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						CTCCTGTTGCAGCTTTTCTTG	0.393													109	225					0	0	0	0	T	153591558	A	T	153591558	3	4	10	1	0	0	0	0	1	0	0	0	949	188	7	5	515	5	ARL6IP6	2	153591558	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	21570590	153591558	89607815	31	2538											
PDK1	5163	broad.mit.edu	37	chr2	173451102	173451102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcgtgttgagacctccCgcgcagtgcctctggtatgt	5	11	12	13	3	1	1	0	1	1	1	3	3	2	1	4	1	1	3	4	1	1	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:173451102C>A	ENST00000410055.1	+	9	1142	c.1042C>A	c.(1042-1044)Cgc>Agc	p.R348S	PDK1_ENST00000392571.2_Missense_Mutation_p.R368S|PDK1_ENST00000282077.2_Missense_Mutation_p.R348S|PDK1_ENST00000544863.1_Missense_Mutation_p.R193S|PDK1_ENST00000543905.1_Missense_Mutation_p.R272S	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	348	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TGAGACCTCCCGCGCAGTGCC	0.443									Autosomal Dominant Polycystic Kidney Disease				3	92					0.004672	0.00486667	1	0	A	173451102	C	A	173451102	3	1	10	1	0	0	0	0	1	0	0	0	11746	652	23	3	1076	3	PDK1	2	173451102	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	19859544	173451102	69748271	32	2539											
TTN	7273	broad.mit.edu	37	chr2	179432093	179432093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaccatcaattctaattgCatcttttacaataagtaaag	15	13	3	10	0	3	0	1	0	2	0	3	0	3	0	2	0	2	2	2	0	7	7			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:179432093C>T	ENST00000589042.1	-	326	78990	c.78766G>A	c.(78766-78768)Gca>Aca	p.A26256T	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A17316T|TTN_ENST00000342992.6_Missense_Mutation_p.A23688T|TTN_ENST00000342175.6_Missense_Mutation_p.A17383T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A24615T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A17191T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24615	Fibronectin type-III 91.						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)			ATTCTAATTGCATCTTTTACA	0.353													11	415					0	0	0	0	T	179432093	C	T	179432093	3	4	10	1	0	0	0	0	1	0	0	0	16831	710	25	4	29361	4	TTN	2	179432093	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	5980991	179432093	63767280	33	2540											
FOXP1	27086	broad.mit.edu	37	chr3	71247445	71247445	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccctcccgaagaccgcCgcactctagtaagtggttgc	7	7	10	17	4	1	1	0	0	1	1	2	2	2	1	6	1	1	3	6	1	3	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr3:71247445C>A	ENST00000318789.4	-	6	613	c.88G>T	c.(88-90)Ggc>Tgc	p.G30C	FOXP1_ENST00000475937.1_Missense_Mutation_p.G30C|FOXP1_ENST00000468577.1_Missense_Mutation_p.G30C|FOXP1_ENST00000493089.1_Missense_Mutation_p.G30C|FOXP1_ENST00000318779.3_Missense_Mutation_p.G30C|FOXP1_ENST00000498215.1_Missense_Mutation_p.G30C|FOXP1_ENST00000484350.1_Missense_Mutation_p.G30C	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	30					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CGAAGACCGCCGCACTCTAGT	0.602			T	PAX5	ALL								69	98					2.69673e-31	3.3293e-31	1	0	A	71247445	C	A	71247445	3	1	10	1	0	0	0	0	1	0	0	0	6073	652	23	3	2178	3	FOXP1	3	71247445	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08		71247445	126774985	34	2541											
CLCN2	1181	broad.mit.edu	37	chr3	184069802	184069802	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccaggctgctggccctaccTtgtgcaaagaggtccgctcc	6	8	12	15	1	0	1	0	0	0	1	2	1	2	1	5	3	3	4	5	3	2	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr3:184069802T>G	ENST00000265593.4	-	22	2585	c.2415_splice	c.e22+1	p.K805_splice	CLCN2_ENST00000457512.1_Splice_Site_p.K805_splice|CLCN2_ENST00000434054.2_Splice_Site_p.K761_splice|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000344937.7_Splice_Site_p.K788_splice	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	805	CBS 2.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TGGCCCTACCTTGTGCAAAGA	0.577													483	156					0	0	0	0	G	184069802	T	G	184069802	5	3	10	1	0	0	0	0	0	0	1	0	3493	1623	56	5	294	5	CLCN2	3	184069802	Splice_Site	SNP	T	TCGA-BA-5555-01A-01D-1512-08	112822357	184069802	13952628	35	2542											
TFRC	7037	broad.mit.edu	37	chr3	195780420	195780420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacagccactgtaaactcaGgcccatttcctgaaacagac	14	8	6	13	0	1	2	1	1	0	1	2	2	2	2	3	1	4	1	3	1	4	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr3:195780420G>T	ENST00000360110.4	-	18	2078	c.1909C>A	c.(1909-1911)Ctg>Atg	p.L637M	TFRC_ENST00000420415.1_Missense_Mutation_p.L556M|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.L355M|TFRC_ENST00000392396.3_Missense_Mutation_p.L637M	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	637	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TGTAAACTCAGGCCCATTTCC	0.393			T	BCL6	NHL								101	80					1.19336e-48	1.52995e-48	1	0	T	195780420	G	T	195780420	3	4	10	1	0	0	0	0	1	0	0	0	15906	991	35	4	381	4	TFRC	3	195780420	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	11710618	195780420	2242010	36	2543											
ZNF718	255403	broad.mit.edu	37	chr4	124639	124639	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggcggtgggaggagtctgtGaatggagttcccgctcagcc	6	8	17	10	3	2	1	1	1	1	0	3	4	3	4	2	5	1	2	2	5	1	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:124639G>C	ENST00000510175.1	+	0	136							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AGGAGTCTGTGAATGGAGTTC	0.667													46	44					0	0	0	0	C	124639	G	C	124639	1	2	10	0	1	0	0	0	0	0	0	0	18215	1305	45	2		2	ZNF718	4	124639	RNA	SNP	G	TCGA-BA-5555-01A-01D-1512-08		124639	191029637	37	2544											
GBA3	57733	broad.mit.edu	37	chr4	22749649	22749649	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaattttttccagatccatcTtggaaaaatgtggattggat	12	15	9	5	0	1	1	0	0	1	1	3	5	3	4	2	3	0	0	2	3	3	5			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:22749649T>A	ENST00000511446.1	+	0	1020				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						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						CAGATCCATCTTGGAAAAATG	0.368													13	15					0	0	0	0	A	22749649	T	A	22749649	1	1	10	0	1	0	0	0	0	0	0	0	6317	1596	56	5		5	GBA3	4	22749649	RNA	SNP	T	TCGA-BA-5555-01A-01D-1512-08	22625010	22749649	168404627	38	2545											
SLC4A4	8671	broad.mit.edu	37	chr4	72429555	72429555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccaagtattaaaattccaAtggacatcatggaacagcaa	17	10	6	8	0	1	0	1	0	0	0	3	2	3	2	2	2	2	2	2	2	7	4	rs150809470		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:72429555A>G	ENST00000340595.3	+	21	3209	c.3013A>G	c.(3013-3015)Atg>Gtg	p.M1005V	SLC4A4_ENST00000264485.5_Missense_Mutation_p.M1049V|SLC4A4_ENST00000351898.6_Missense_Mutation_p.M965V|SLC4A4_ENST00000425175.1_Intron	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	1049						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TAAAATTCCAATGGACATCAT	0.373													86	138					0	0	0	0	G	72429555	A	G	72429555	3	3	10	1	0	0	0	0	1	0	0	0	14744	101	4	5	3356	5	SLC4A4	4	72429555	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	49679906	72429555	118724721	39	2546											
ENPEP	2028	broad.mit.edu	37	chr4	111474548	111474548	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattcgatatatctcatataAcagctatgggaagaacatgg	15	11	8	7	1	1	1	1	0	1	1	3	3	1	2	0	2	3	1	0	2	7	6			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:111474548A>G	ENST00000265162.5	+	18	2921	c.2579A>G	c.(2578-2580)aAc>aGc	p.N860S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	860					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ATCTCATATAACAGCTATGGG	0.393													121	129					0	0	0	0	G	111474548	A	G	111474548	3	3	10	1	0	0	0	0	1	0	0	0	5166	43	2	5	2649	5	ENPEP	4	111474548	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	39044993	111474548	79679728	40	2547											
FNIP2	57600	broad.mit.edu	37	chr4	159782919	159782919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccgtataatcctctttggGcacagctgggttagtaccta	9	13	9	10	1	1	0	0	0	1	0	3	0	3	0	3	2	2	5	3	2	5	6			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:159782919G>A	ENST00000264433.6	+	12	1531	c.1456G>A	c.(1456-1458)Gca>Aca	p.A486T	FNIP2_ENST00000379346.3_Missense_Mutation_p.A509T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	486					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCCTCTTTGGGCACAGCTGGG	0.443													108	114					0	0	0	0	A	159782919	G	A	159782919	3	1	10	1	0	0	0	0	1	0	0	0	6021	1203	42	4	1502	4	FNIP2	4	159782919	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	48308371	159782919	31371357	41	2548											
SPATA4	132851	broad.mit.edu	37	chr4	177113893	177113893	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtaattctgataacctaatGttatctttaatagacttcga	14	16	5	6	1	2	2	0	1	2	1	3	3	2	2	1	0	1	2	1	0	6	9			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:177113893G>A	ENST00000515234.1	-	3	1649	c.54C>T	c.(52-54)aaC>aaT	p.N18N	SPATA4_ENST00000280191.2_Silent_p.N191N			Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	191					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		ATAACCTAATGTTATCTTTAA	0.383													49	57					0	0	0	0	A	177113893	G	A	177113893	2	1	10	1	0	0	0	0	0	0	0	1	15100	1368	48	4		4	SPATA4	4	177113893	Silent	SNP	G	TCGA-BA-5555-01A-01D-1512-08	17330974	177113893	14040383	42	2549											
AHRR	57491	broad.mit.edu	37	chr5	423993	423993	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaggctgctcagggcccaGgagtggggcacaggcacgcc	7	3	19	12	1	1	0	1	0	0	0	1	2	1	2	2	7	1	4	2	7	0	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:423993G>A	ENST00000316418.5	+	7	665	c.621G>A	c.(619-621)caG>caA	p.Q207Q	AHRR_ENST00000512529.1_Silent_p.Q53Q|AHRR_ENST00000505113.1_Silent_p.Q207Q|AHRR_ENST00000506456.1_Silent_p.Q63Q	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TCAGGGCCCAGGAGTGGGGCA	0.657													54	59					0	0	0	0	A	423993	G	A	423993	2	1	10	1	0	0	0	0	0	0	0	1	417	991	35	4		4	AHRR	5	423993	Silent	SNP	G	TCGA-BA-5555-01A-01D-1512-08		423993	180491267	43	2550											
ADAMTS16	170690	broad.mit.edu	37	chr5	5182363	5182363	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcaacccctgcacagcagCgaccttcgcctgggactgcc	8	6	9	18	2	1	0	1	0	0	0	2	2	1	1	5	1	5	2	5	1	1	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:5182363C>G	ENST00000274181.7	+	4	846	c.708C>G	c.(706-708)agC>agG	p.S236R	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.S236R	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	236					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCACAGCAGCGACCTTCGCC	0.522													46	82					0	0	0	0	G	5182363	C	G	5182363	3	3	10	1	0	0	0	0	1	0	0	0	261	767	27	3	722	3	ADAMTS16	5	5182363	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	4758370	5182363	175732897	44	2551											
PRDM9	56979	broad.mit.edu	37	chr5	23527862	23527862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaggggagaagccctacGtctgcagggaggatgagtaa	13	5	15	8	1	1	2	0	1	1	1	1	5	1	4	1	4	3	2	1	4	3	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:23527862G>T	ENST00000296682.3	+	11	2847	c.2665G>T	c.(2665-2667)Gtc>Ttc	p.V889F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	889					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAAGCCCTACGTCTGCAGGGA	0.522										HNSCC(3;0.000094)			17	112					6.49762e-13	7.14024e-13	1	0	T	23527862	G	T	23527862	3	4	10	1	0	0	0	0	1	0	0	0	12543	1145	40	3	2703	3	PRDM9	5	23527862	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	18345499	23527862	157387398	45	2552											
C7	730	broad.mit.edu	37	chr5	40981608	40981608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgagtgtgaggcgggcgCtctgagatgcagagggcaga	8	7	19	7	2	2	5	0	3	2	3	2	6	2	5	0	3	1	3	0	3	0	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:40981608C>T	ENST00000313164.9	+	18	2824	c.2465C>T	c.(2464-2466)gCt>gTt	p.A822V		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	822	Complement control factor I module 2.			GA -> AL (in Ref. 3).	complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAGGCGGGCGCTCTGAGATGC	0.567													22	36					0	0	0	0	T	40981608	C	T	40981608	3	4	10	1	0	0	0	0	1	0	0	0	2398	797	28	4	2535	4	C7	5	40981608	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	17453746	40981608	139933652	46	2553											
HCN1	348980	broad.mit.edu	37	chr5	45262156	45262156	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcggggggatggctcccGacgacatctgtcggaagagg	7	7	18	9	4	1	1	0	0	1	1	4	5	2	3	1	7	0	2	1	7	1	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:45262156G>T	ENST00000303230.4	-	8	2597	c.2540C>A	c.(2539-2541)tCg>tAg	p.S847*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	847						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GATGGCTCCCGACGACATCTG	0.642													46	180					9.58827e-17	1.0958e-16	1	0	T	45262156	G	T	45262156	4	4	10	1	0	0	0	0	0	1	0	0	7046	1059	37	3	136	3	HCN1	5	45262156	Nonsense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	4280548	45262156	135653104	47	2554											
MAP1B	4131	broad.mit.edu	37	chr5	71494697	71494697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgtgcctcagtgttattcGatacaatgcaacaccatcta	11	12	6	12	2	2	0	1	0	1	0	4	1	3	0	3	0	4	2	3	0	5	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:71494697G>A	ENST00000296755.7	+	5	5813	c.5515G>A	c.(5515-5517)Gat>Aat	p.D1839N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1839						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTGTTATTCGATACAATGCA	0.493													40	44					0	0	0	0	A	71494697	G	A	71494697	3	1	10	1	0	0	0	0	1	0	0	0	9297	1058	37	1	5533	1	MAP1B	5	71494697	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	26232541	71494697	109420563	48	2555											
FBN2	2201	broad.mit.edu	37	chr5	127646995	127646995	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcaaattcatctcaccttCacagatgcgggtatcctcgc	10	11	6	14	2	4	1	4	0	1	1	7	1	5	1	2	1	1	1	2	1	2	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:127646995C>G	ENST00000508053.1	-	45	6045	c.5071G>C	c.(5071-5073)Gaa>Caa	p.E1691Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E1691Q			P35556	FBN2_HUMAN	fibrillin 2	1691	EGF-like 27; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCTCACCTTCACAGATGCGG	0.498													21	25					0	0	0	0	G	127646995	C	G	127646995	3	3	10	1	0	0	0	0	1	0	0	0	5748	835	29	2	3775	2	FBN2	5	127646995	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	56152298	127646995	53268265	49	2556											
FAM13B	51306	broad.mit.edu	37	chr5	137346746	137346746	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaaaaatcttcctcttcaTtctcaaaaaactcatagtag	16	13	3	9	0	5	1	3	1	3	0	7	1	6	1	1	0	1	1	1	0	7	5			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:137346746T>A	ENST00000033079.3	-	6	1092	c.641A>T	c.(640-642)aAt>aTt	p.N214I	FAM13B_ENST00000425075.2_Missense_Mutation_p.N96I|FAM13B_ENST00000420893.2_Missense_Mutation_p.N214I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	214	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TTCCTCTTCATTCTCAAAAAA	0.303													70	60					0	0	0	0	A	137346746	T	A	137346746	3	1	10	1	0	0	0	0	1	0	0	0	5494	1493	52	5	2248	5	FAM13B	5	137346746	Missense_Mutation	SNP	T	TCGA-BA-5555-01A-01D-1512-08	9699751	137346746	43568514	50	2557											
NSD1	64324	broad.mit.edu	37	chr5	176637762	176637762	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaacagcccaagttcCgaagtataaagtgcaaacac	19	5	7	10	1	0	0	0	0	0	0	1	1	1	0	2	0	5	4	2	0	8	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:176637762C>T	ENST00000439151.2	+	5	2407	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.R519*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R519*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R685*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	788					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCCCAAGTTCCGAAGTATAAA	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			38	45					0	0	0	0	T	176637762	C	T	176637762	4	4	10	1	0	0	0	0	0	1	0	0	10740	644	23	1	2376	1	NSD1	5	176637762	Nonsense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	39291016	176637762	4277498	51	2558											
PGBD1	84547	broad.mit.edu	37	chr6	28269689	28269689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacaatgagataattttGtgtcgttggtatggggatgg	12	13	14	2	1	0	1	0	1	0	1	1	4	0	2	0	4	1	2	0	4	5	5			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:28269689G>C	ENST00000405948.2	+	7	2478	c.2058G>C	c.(2056-2058)ttG>ttC	p.L686F	PGBD1_ENST00000259883.3_Missense_Mutation_p.L686F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	686					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGATAATTTTGTGTCGTTGGT	0.388													84	311					0	0	0	0	C	28269689	G	C	28269689	3	2	10	1	0	0	0	0	1	0	0	0	11852	1368	48	4	2080	4	PGBD1	6	28269689	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08		28269689	142845378	52	2559											
NOTCH4	4855	broad.mit.edu	37	chr6	32168683	32168683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccactgcagccatcgCagcaaggaagcggagtagaa	12	4	13	12	2	0	1	0	0	0	1	2	3	1	3	2	3	4	5	2	3	4	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:32168683C>T	ENST00000375023.3	-	23	4378	c.4240G>A	c.(4240-4242)Gcg>Acg	p.A1414T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1414					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCAGCCATCGCAGCAAGGAAG	0.647													30	33					0	0	0	0	T	32168683	C	T	32168683	3	4	10	1	0	0	0	0	1	0	0	0	10621	710	25	4	1803	4	NOTCH4	6	32168683	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	3898994	32168683	138946384	53	2560											
NOTCH4	4855	broad.mit.edu	37	chr6	32188357	32188357	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttctggcaggtgcccccGtttctgcagtgagggggacc	5	9	16	11	1	2	1	0	1	2	0	2	3	2	2	3	4	2	4	3	4	0	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:32188357G>A	ENST00000375023.3	-	6	1122	c.984C>T	c.(982-984)aaC>aaT	p.N328N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	328	EGF-like 8; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGGTGCCCCCGTTTCTGCAGT	0.617													44	141					0	0	0	0	A	32188357	G	A	32188357	2	1	10	1	0	0	0	0	0	0	0	1	10621	1136	40	1		1	NOTCH4	6	32188357	Silent	SNP	G	TCGA-BA-5555-01A-01D-1512-08	19674	32188357	138926710	54	2561											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32713831	32713831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcactggggcctggacgagCctcttctgaaacactggggt	8	8	14	11	1	2	1	0	1	2	0	2	3	2	2	2	5	3	1	2	5	1	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:32713831C>T	ENST00000374940.3	+	3	697	c.595C>T	c.(595-597)Cct>Tct	p.P199S		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	199	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTGGACGAGCCTCTTCTGAA	0.488													97	255					0	0	0	0	T	32713831	C	T	32713831	3	4	10	1	0	0	0	0	1	0	0	0	7255	739	26	4	605	4	HLA-DQA2	6	32713831	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	525474	32713831	138401236	55	2562											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34827076	34827076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacaggccaagaaactgagCagaacccaagcctccagctc	14	4	8	15	0	0	3	0	1	0	2	2	3	1	3	4	1	6	2	4	1	5	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:34827076C>T	ENST00000192788.5	+	14	3114	c.2943C>T	c.(2941-2943)agC>agT	p.S981S	UHRF1BP1_ENST00000452449.2_Silent_p.S981S	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	981										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGAAACTGAGCAGAACCCAAG	0.572													65	86					0	0	0	0	T	34827076	C	T	34827076	2	4	10	1	0	0	0	0	0	0	0	1	17064	709	25	4		4	UHRF1BP1	6	34827076	Silent	SNP	C	TCGA-BA-5555-01A-01D-1512-08	2113245	34827076	136287991	56	2563											
DNAH8	1769	broad.mit.edu	37	chr6	38754589	38754589	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaaacagggaagttgcTggttaatttcgatcccaaaa	14	10	9	8	1	0	1	0	0	0	1	3	3	2	2	2	2	2	3	2	2	5	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:38754589T>C	ENST00000359357.3	+	16	2047	c.1793T>C	c.(1792-1794)cTg>cCg	p.L598P	DNAH8_ENST00000449981.2_Missense_Mutation_p.L815P|DNAH8_ENST00000441566.1_Missense_Mutation_p.L598P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGAAGTTGCTGGTTAATTTC	0.363													77	99					0	0	0	0	C	38754589	T	C	38754589	3	2	10	1	0	0	0	0	1	0	0	0	4643	1580	55	5	1847	5	DNAH8	6	38754589	Missense_Mutation	SNP	T	TCGA-BA-5555-01A-01D-1512-08	3927513	38754589	132360478	57	2564											
DNAH8	1769	broad.mit.edu	37	chr6	38994415	38994415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatgaagttctgagacagaCcaaggaggagatcacgtcac	15	6	11	9	1	3	4	2	2	1	3	3	7	3	5	1	2	0	1	1	2	3	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:38994415C>G	ENST00000359357.3	+	90	13411	c.13157C>G	c.(13156-13158)aCc>aGc	p.T4386S	DNAH8_ENST00000441566.1_Missense_Mutation_p.T4350S					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGAGACAGACCAAGGAGGAG	0.527													4	227					0	0	0	0	G	38994415	C	G	38994415	3	3	10	1	0	0	0	0	1	0	0	0	4643	507	18	4	13507	4	DNAH8	6	38994415	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	239826	38994415	132120652	58	2565											
CUL9	23113	broad.mit.edu	37	chr6	43153942	43153943	+	Frame_Shift_Ins	INS	-	-	C																															catgtcacctccccggccaaINScccggtccatctttcagccc																										TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:43153942_43153943insC	ENST00000252050.4	+	4	1084_1085	c.1000_1001insC	c.(1000-1002)ccgfs	p.P334fs	CUL9_ENST00000372647.2_Frame_Shift_Ins_p.P334fs|CUL9_ENST00000354495.3_Frame_Shift_Ins_p.P334fs	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	334					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCCCCGGCCAACCCGGTCCATC	0.614													50	243	---	---	---	---					C	43153943	-	C	43153942	7	5	10	1	0	1	1	0	0	0	0	0	4093	43	2	0	1010	0	CUL9	6	43153942	Frame_Shift_Ins	INS	-	TCGA-BA-5555-01A-01D-1512-08	4159527	43153942	127961125	59	2566											
GPR111	222611	broad.mit.edu	37	chr6	47649207	47649207	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggagataacattggaaaAaatttcactttttctatgag	14	15	7	5	0	3	2	1	1	2	1	3	4	3	3	0	2	1	0	0	2	5	6			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:47649207A>C	ENST00000398742.2	+	5	757	c.708A>C	c.(706-708)aaA>aaC	p.K236N	GPR111_ENST00000507065.1_Missense_Mutation_p.K236N|GPR111_ENST00000296862.1_Missense_Mutation_p.K304N			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	304					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACATTGGAAAAAATTTCACTT	0.398													89	293					0	0	0	0	C	47649207	A	C	47649207	3	2	10	1	0	0	0	0	1	0	0	0	6677	11	1	5	726	5	GPR111	6	47649207	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	4495265	47649207	123465860	60	2567											
CRISP1	167	broad.mit.edu	37	chr6	49803047	49803047	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctattttatctcagtgtcAcacagacaagtggctttaca	12	13	6	10	0	2	1	2	0	1	1	3	1	2	1	1	1	1	1	1	1	4	5			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:49803047A>T	ENST00000335847.4	-	8	833	c.732T>A	c.(730-732)tgT>tgA	p.C244*	CRISP1_ENST00000355791.2_Nonsense_Mutation_p.C244*|CRISP1_ENST00000507853.1_3'UTR|CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000505118.1_Nonsense_Mutation_p.C244*	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	244					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TCTCAGTGTCACACAGACAAG	0.393													9	392					0	0	0	0	T	49803047	A	T	49803047	4	4	10	1	0	0	0	0	0	1	0	0	3909	157	6	5	21	5	CRISP1	6	49803047	Nonsense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	2153840	49803047	121312020	61	2568											
DEFB112	245915	broad.mit.edu	37	chr6	50016327	50016327	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctttgagtacatttttTcaagtttcagtctacatatg	9	20	6	6	0	4	1	2	1	2	0	4	1	4	1	0	0	2	2	0	0	4	9			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:50016327T>C	ENST00000322246.4	-	1	37	c.38A>G	c.(37-39)gAa>gGa	p.E13G		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	13					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					GTACATTTTTTCAAGTTTCAG	0.328													120	121					0	0	0	0	C	50016327	T	C	50016327	3	2	10	1	0	0	0	0	1	0	0	0	4437	1783	62	5	310	5	DEFB112	6	50016327	Missense_Mutation	SNP	T	TCGA-BA-5555-01A-01D-1512-08	213280	50016327	121098740	62	2569											
ZNF451	26036	broad.mit.edu	37	chr6	57012576	57012576	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatttttatgagatggatGaggtagaaggtgaaactttg	13	14	13	1	0	0	4	0	3	0	2	0	7	0	5	0	3	1	1	0	3	5	6			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:57012576G>T	ENST00000370706.4	+	10	1937	c.1693G>T	c.(1693-1695)Gag>Tag	p.E565*	RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.E565*|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.E565*|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGAGATGGATGAGGTAGAAGG	0.393													119	313					4.07119e-57	5.35683e-57	1	0	T	57012576	G	T	57012576	4	4	10	1	0	0	0	0	0	1	0	0	18017	1291	45	2	1731	2	ZNF451	6	57012576	Nonsense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	6996249	57012576	114102491	63	2570											
MCHR2	84539	broad.mit.edu	37	chr6	100390920	100390920	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacccagacaggcaatgcCaggataaaggaagctgccca	15	4	11	11	0	0	2	0	0	0	2	0	4	0	4	3	3	3	2	3	3	5	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:100390920C>A	ENST00000281806.2	-	4	806	c.492G>T	c.(490-492)ctG>ctT	p.L164L	MCHR2_ENST00000445970.1_Silent_p.L164L|MCHR2_ENST00000369212.1_Silent_p.L164L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	164						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGGCAATGCCAGGATAAAGG	0.478													72	104					1.93348e-29	2.3579e-29	1	0	A	100390920	C	A	100390920	2	1	10	1	0	0	0	0	0	0	0	1	9452	581	21	4		4	MCHR2	6	100390920	Silent	SNP	C	TCGA-BA-5555-01A-01D-1512-08	43378344	100390920	70724147	64	2571											
SDK1	221935	broad.mit.edu	37	chr7	4002400	4002400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgcatccagaagctgcGtccagaggactccggaatct	9	7	11	14	3	1	2	0	0	1	2	4	4	4	4	4	2	3	2	4	2	2	0	rs148101694		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:4002400G>A	ENST00000404826.2	+	9	1485	c.1346G>A	c.(1345-1347)cGt>cAt	p.R449H	SDK1_ENST00000389531.3_Missense_Mutation_p.R449H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	449	Ig-like C2-type 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGAAGCTGCGTCCAGAGGAC	0.587													21	33					0	0	0	0	A	4002400	G	A	4002400	3	1	10	1	0	0	0	0	1	0	0	0	14055	1145	40	1	1380	1	SDK1	7	4002400	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08		4002400	155136263	65	2572											
PDE1C	5137	broad.mit.edu	37	chr7	32338306	32338306	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgctgaaagtggcgctccgGcattttttgaagccctcctt	7	13	10	11	2	0	2	0	2	0	0	2	2	2	2	3	2	2	3	3	2	2	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:32338306G>T	ENST00000396193.1	-	1	635	c.42C>A	c.(40-42)tgC>tgA	p.C14*		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGGCGCTCCGGCATTTTTTGA	0.662													7	16					0.00307968	0.00322479	1	0	T	32338306	G	T	32338306	4	4	10	1	0	0	0	0	0	1	0	0	11706	1218	42	4		4	PDE1C	7	32338306	Nonsense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	28335906	32338306	126800357	66	2573											
PCLO	27445	broad.mit.edu	37	chr7	82580369	82580369	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttaaagtgggaacagagtCtatcgtctcagcagtaagag	13	9	13	6	1	2	2	1	0	2	2	4	3	2	3	0	2	2	3	0	2	5	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:82580369C>G	ENST00000423517.2	-	6	9872	c.9535G>C	c.(9535-9537)Gac>Cac	p.D3179H	PCLO_ENST00000333891.8_Missense_Mutation_p.D3179H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3110	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAACAGAGTCTATCGTCTCA	0.423													11	53					0	0	0	0	G	82580369	C	G	82580369	3	3	10	1	0	0	0	0	1	0	0	0	11654	913	32	2	5990	2	PCLO	7	82580369	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	50242063	82580369	76558294	67	2574											
AKAP9	10142	broad.mit.edu	37	chr7	91729178	91729178	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagacaggagctggtagaGataatgtatgtccattttta	13	12	11	5	0	0	2	0	0	0	2	1	5	1	3	1	2	1	3	1	2	4	6			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:91729178G>C	ENST00000359028.2	+	44	11128	c.10903G>C	c.(10903-10905)Gat>Cat	p.D3635H	AKAP9_ENST00000358100.2_Missense_Mutation_p.D3581H|AKAP9_ENST00000356239.3_Missense_Mutation_p.D3631H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3635					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGCTGGTAGAGATAATGTATG	0.378			T	BRAF	papillary thyroid								26	165					0	0	0	0	C	91729178	G	C	91729178	3	2	10	1	0	0	0	0	1	0	0	0	459	942	33	2	11065	2	AKAP9	7	91729178	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	9148809	91729178	67409485	68	2575											
PPP1R9A	55607	broad.mit.edu	37	chr7	94879416	94879416	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaacatagaagagaataagGaaagaatgttgaagttggaa	22	7	11	1	0	0	4	0	1	0	3	0	7	0	6	0	2	1	2	0	2	10	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:94879416G>T	ENST00000289495.5	+	8	2395	c.2179G>T	c.(2179-2181)Gaa>Taa	p.E727*	PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.E749*|PPP1R9A_ENST00000433881.1_Nonsense_Mutation_p.E727*|PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.E727*|PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.E727*|PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.E727*	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	727	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGAGAATAAGGAAAGAATGTT	0.433										HNSCC(28;0.073)			19	41					8.28177e-16	9.35793e-16	1	0	T	94879416	G	T	94879416	4	4	10	1	0	0	0	0	0	1	0	0	12454	1175	41	2	2279	2	PPP1R9A	7	94879416	Nonsense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	3150238	94879416	64259247	69	2576											
AKR1B10	57016	broad.mit.edu	37	chr7	134215455	134215455	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgcaggatatcggcacAttgactgtgcctatgtctat	9	14	10	8	1	1	2	0	2	1	0	2	3	1	3	1	2	2	2	1	2	3	5			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:134215455A>C	ENST00000359579.4	+	2	447	c.127A>C	c.(127-129)Att>Ctt	p.I43L	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	43					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						ATATCGGCACATTGACTGTGC	0.458													27	133					0	0	0	0	C	134215455	A	C	134215455	3	2	10	1	0	0	0	0	1	0	0	0	467	217	8	5	133	5	AKR1B10	7	134215455	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	39336039	134215455	24923208	70	2577											
TRPV6	55503	broad.mit.edu	37	chr7	142571344	142571344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatgaagggcaggtccaCgttgtagttggctgggccat	8	10	15	8	1	0	1	0	1	0	0	1	1	1	1	2	4	1	6	2	4	3	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:142571344C>A	ENST00000359396.3	-	13	1890	c.1645G>T	c.(1645-1647)Gtg>Ttg	p.V549L		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	549					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGCAGGTCCACGTTGTAGTTG	0.562													78	165					2.51111e-31	3.11939e-31	1	0	A	142571344	C	A	142571344	3	1	10	1	0	0	0	0	1	0	0	0	16695	536	19	3	544	3	TRPV6	7	142571344	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	8355889	142571344	16567319	71	2578											
GIMAP4	55303	broad.mit.edu	37	chr7	150269705	150269705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagacttgatggacattttcGgtgaccgctactgtgcgtta	9	13	11	8	3	0	3	0	2	0	1	1	4	0	4	1	2	2	2	1	2	3	5			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:150269705G>T	ENST00000255945.2	+	3	722	c.547G>T	c.(547-549)Ggt>Tgt	p.G183C	GIMAP4_ENST00000461940.1_Missense_Mutation_p.G197C|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	183							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACATTTTCGGTGACCGCTA	0.512													21	151					1.28384e-07	1.36579e-07	1	0	T	150269705	G	T	150269705	3	4	10	1	0	0	0	0	1	0	0	0	6432	1116	39	3	553	3	GIMAP4	7	150269705	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	7698361	150269705	8868958	72	2579											
EYA1	2138	broad.mit.edu	37	chr8	72229916	72229916	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtcttgatgcctgcccAcaatgcacctaaatcagtta	11	12	6	12	0	3	1	2	1	1	0	3	1	3	1	3	0	3	2	3	0	4	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:72229916A>G	ENST00000340726.3	-	7	1066	c.427T>C	c.(427-429)Tgg>Cgg	p.W143R	EYA1_ENST00000388741.2_Missense_Mutation_p.W109R|EYA1_ENST00000388740.3_Missense_Mutation_p.W110R|EYA1_ENST00000388742.4_Missense_Mutation_p.W143R|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000303824.7_Intron|EYA1_ENST00000388743.2_Missense_Mutation_p.W142R	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	143					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ATGCCTGCCCACAATGCACCT	0.428													108	241					0	0	0	0	G	72229916	A	G	72229916	3	3	10	1	0	0	0	0	1	0	0	0	5366	159	6	5	1399	5	EYA1	8	72229916	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08		72229916	74134106	73	2580											
KCNB2	9312	broad.mit.edu	37	chr8	73480044	73480044	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccttcctccagagcctgtGgacattatccggagcaaaac	10	9	8	14	1	0	1	0	0	0	1	4	3	4	3	5	2	3	1	5	2	3	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:73480044G>T	ENST00000523207.1	+	2	663	c.75G>T	c.(73-75)gtG>gtT	p.V25V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	25					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGAGCCTGTGGACATTATCC	0.547													86	173					1.07134e-49	1.39135e-49	1	0	T	73480044	G	T	73480044	2	4	10	1	0	0	0	0	0	0	0	1	8066	1335	47	4		4	KCNB2	8	73480044	Silent	SNP	G	TCGA-BA-5555-01A-01D-1512-08	1250128	73480044	72883978	74	2581											
VPS13B	157680	broad.mit.edu	37	chr8	100829989	100829989	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagactggtcaagagatgtGtgcctggaatccaaagcccc	12	7	12	10	0	1	2	1	0	0	2	2	5	2	3	4	2	2	0	4	2	4	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:100829989G>T	ENST00000358544.2	+	45	8505	c.8394G>T	c.(8392-8394)gtG>gtT	p.V2798V	VPS13B_ENST00000357162.2_Silent_p.V2773V|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2798					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAGAGATGTGTGCCTGGAAT	0.418													100	69					9.45097e-43	1.20394e-42	1	0	T	100829989	G	T	100829989	2	4	10	1	0	0	0	0	0	0	0	1	17286	1364	48	4		4	VPS13B	8	100829989	Silent	SNP	G	TCGA-BA-5555-01A-01D-1512-08	27349945	100829989	45534033	75	2582											
FER1L6	654463	broad.mit.edu	37	chr8	125076699	125076699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccacctcccacagtggtgcCcgactctgcccaggcccagc	6	5	10	20	1	1	0	0	0	1	0	2	1	2	0	6	2	3	0	6	2	0	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:125076699C>T	ENST00000522917.1	+	26	3646	c.3440C>T	c.(3439-3441)cCc>cTc	p.P1147L	FER1L6_ENST00000399018.1_Missense_Mutation_p.P1147L|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1147						integral to membrane		p.P1147H(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACAGTGGTGCCCGACTCTGCC	0.607													78	104					0	0	0	0	T	125076699	C	T	125076699	3	4	10	1	0	0	0	0	1	0	0	0	5860	623	22	4	3538	4	FER1L6	8	125076699	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	24246710	125076699	21287323	76	2583											
ASAP1	50807	broad.mit.edu	37	chr8	131249206	131249206	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttttacagacttcttcActttctgaagggctgttcta	7	18	7	9	0	4	2	1	1	3	1	4	2	4	2	0	1	2	3	0	1	3	8			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:131249206A>T	ENST00000357668.1	-	3	248	c.221T>A	c.(220-222)gTg>gAg	p.V74E	ASAP1_ENST00000518721.1_Missense_Mutation_p.V74E			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	74					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGACTTCTTCACTTTCTGAAG	0.294													37	79					0	0	0	0	T	131249206	A	T	131249206	3	4	10	1	0	0	0	0	1	0	0	0	1014	159	6	5	3276	5	ASAP1	8	131249206	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	6172507	131249206	15114816	77	2584											
TG	7038	broad.mit.edu	37	chr8	134042084	134042084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggtccggagaggtgagtgGcaactgggggctgctggacc	7	6	20	8	1	0	2	0	1	0	1	1	4	1	3	2	7	2	3	2	7	1	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:134042084G>T	ENST00000220616.4	+	41	7095	c.7055G>T	c.(7054-7056)gGc>gTc	p.G2352V	TG_ENST00000519543.1_Missense_Mutation_p.G485V|TG_ENST00000377869.1_Missense_Mutation_p.G2295V|TG_ENST00000542445.1_Missense_Mutation_p.G722V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2352					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGTGAGTGGCAACTGGGGG	0.572													26	47					2.61193e-14	2.91836e-14	1	0	T	134042084	G	T	134042084	3	4	10	1	0	0	0	0	1	0	0	0	15907	1203	42	4	7217	4	TG	8	134042084	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	2792878	134042084	12321938	78	2585											
SCRIB	23513	broad.mit.edu	37	chr8	144893221	144893221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgagattgaggtgggtgagCgcgaacggcagactctgcag	9	8	17	7	3	1	4	0	3	1	2	1	6	1	4	0	3	3	2	0	3	1	2	rs146561937	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:144893221C>T	ENST00000356994.2	-	11	1134	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	SCRIB_ENST00000377533.3_Silent_p.A295A|SCRIB_ENST00000320476.3_Silent_p.A376A	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	376	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGTGGGTGAGCGCGAACGGCA	0.687													6	10					0	0	0	0	T	144893221	C	T	144893221	2	4	10	1	0	0	0	0	0	0	0	1	14024	755	27	1		1	SCRIB	8	144893221	Silent	SNP	C	TCGA-BA-5555-01A-01D-1512-08	10851137	144893221	1470801	79	2586											
LINGO2	158038	broad.mit.edu	37	chr9	27950604	27950604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagccaatggtggatccCatgaagattaacaccacagc	13	6	11	11	0	0	2	0	1	0	1	1	3	1	3	3	3	3	1	3	3	3	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:27950604C>G	ENST00000379992.2	-	6	515	c.66G>C	c.(64-66)atG>atC	p.M22I	LINGO2_ENST00000308675.3_Missense_Mutation_p.M22I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	22						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGGTGGATCCCATGAAGATTA	0.542													4	55					0	0	0	0	G	27950604	C	G	27950604	3	3	10	1	0	0	0	0	1	0	0	0	8870	594	21	4	1758	4	LINGO2	9	27950604	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08		27950604	113262827	80	2587											
PAX5	5079	broad.mit.edu	37	chr9	37015148	37015148	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcgacctttggtttggAtcctccaattaccccaggct	6	13	10	12	1	0	0	0	0	0	0	2	2	2	1	5	4	1	2	5	4	2	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:37015148A>G	ENST00000358127.4	-	3	330	c.256T>C	c.(256-258)Tcc>Ccc	p.S86P	PAX5_ENST00000377853.2_Missense_Mutation_p.S86P|PAX5_ENST00000523241.1_Missense_Mutation_p.S86P|PAX5_ENST00000377852.2_Missense_Mutation_p.S86P|PAX5_ENST00000520281.1_Missense_Mutation_p.S86P|PAX5_ENST00000520154.1_Missense_Mutation_p.S86P|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000414447.1_Missense_Mutation_p.S86P|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377847.2_Missense_Mutation_p.S86P|PAX5_ENST00000522003.1_5'UTR	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	86	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TTTGGTTTGGATCCTCCAATT	0.483			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								155	203					0	0	0	0	G	37015148	A	G	37015148	3	3	10	1	0	0	0	0	1	0	0	0	11553	333	12	5	951	5	PAX5	9	37015148	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	9064544	37015148	104198283	81	2588											
HSDL2	84263	broad.mit.edu	37	chr9	115216373	115216373	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtggaagaaacatttagaAttgttaaggactctctcagt	13	13	9	6	0	2	2	1	0	1	2	3	4	2	4	0	2	1	1	0	2	5	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:115216373A>G	ENST00000398805.3	+	9	1173	c.946A>G	c.(946-948)Att>Gtt	p.I316V	HSDL2_ENST00000539114.1_Missense_Mutation_p.I111V|HSDL2_ENST00000398803.1_Missense_Mutation_p.I243V|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_Missense_Mutation_p.I196V	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	316	SCP2.					peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						AACATTTAGAATTGTTAAGGA	0.398													81	159					0	0	0	0	G	115216373	A	G	115216373	3	3	10	1	0	0	0	0	1	0	0	0	7444	101	4	5	980	5	HSDL2	9	115216373	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	78201225	115216373	25997058	82	2589											
NUP188	23511	broad.mit.edu	37	chr9	131743547	131743547	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctgttttggcaggtgtAtagcttcttggataagatgt	7	19	11	4	0	2	1	0	0	2	1	2	2	2	2	0	3	1	4	0	3	3	9			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:131743547A>G	ENST00000372577.2	+	15	1415	c.1394A>G	c.(1393-1395)tAt>tGt	p.Y465C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	465					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGGCAGGTGTATAGCTTCTTG	0.423													107	335					0	0	0	0	G	131743547	A	G	131743547	3	3	10	1	0	0	0	0	1	0	0	0	10829	449	16	5	1452	5	NUP188	9	131743547	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	16527174	131743547	9469884	83	2590											
ZWINT	11130	broad.mit.edu	37	chr10	58120976	58120976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctagggctgcagcttccgCctctgtctccgctgcctcca	3	11	9	18	2	3	0	0	0	3	0	6	0	5	0	5	1	3	4	5	1	1	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr10:58120976C>T	ENST00000373944.3	-	1	60	c.22G>A	c.(22-24)Gcg>Acg	p.A8T	ZWINT_ENST00000395405.1_Missense_Mutation_p.A8T|ZWINT_ENST00000361148.6_Missense_Mutation_p.A8T			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	8					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GCAGCTTCCGCCTCTGTCTCC	0.597													10	13					0	0	0	0	T	58120976	C	T	58120976	3	4	10	1	0	0	0	0	1	0	0	0	18340	739	26	4	843	4	ZWINT	10	58120976	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08		58120976	77413771	84	2591											
ENTPD1	953	broad.mit.edu	37	chr10	97583051	97583051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatccttggcttctcctCtatcatagctgtgatagctt	7	15	7	12	0	3	1	1	1	2	0	5	1	4	1	3	1	3	3	3	1	3	6			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr10:97583051C>A	ENST00000371207.3	+	2	173	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	ENTPD1_ENST00000453258.2_Missense_Mutation_p.S32Y|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Missense_Mutation_p.S25Y|ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000539125.1_5'UTR|ENTPD1_ENST00000490659.1_3'UTR	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	25					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGCTTCTCCTCTATCATAGCT	0.393													66	79					1.17253e-29	1.43869e-29	1	0	A	97583051	C	A	97583051	3	1	10	1	0	0	0	0	1	0	0	0	5176	913	32	2	177	2	ENTPD1	10	97583051	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	39462075	97583051	37951696	85	2592											
OR56A1	120796	broad.mit.edu	37	chr11	6048184	6048184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaatgaggatgaagtGggagccacatgtgctcaggg	14	6	16	5	0	1	3	1	2	0	1	1	6	1	5	1	3	2	1	1	3	4	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:6048184G>T	ENST00000316650.5	-	1	787	c.751C>A	c.(751-753)Cac>Aac	p.H251N		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATGAAGTGGGAGCCACAT	0.493													34	35					3.03874e-20	3.53342e-20	1	0	T	6048184	G	T	6048184	3	4	10	1	0	0	0	0	1	0	0	0	11204	1348	47	4	209	4	OR56A1	11	6048184	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08		6048184	128958332	86	2593											
ABCC8	6833	broad.mit.edu	37	chr11	17434265	17434265	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggccacactgattcgcTggcgttgaccaccagacagg	8	7	12	14	3	0	3	0	2	0	1	2	3	0	3	3	3	0	2	3	3	0	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:17434265T>A	ENST00000302539.4	-	21	2632	c.2507A>T	c.(2506-2508)cAg>cTg	p.Q836L	ABCC8_ENST00000389817.3_Missense_Mutation_p.Q835L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	835	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACTGATTCGCTGGCGTTGACC	0.582													6	12					0	0	0	0	A	17434265	T	A	17434265	3	1	10	1	0	0	0	0	1	0	0	0	58	1580	55	5	2317	5	ABCC8	11	17434265	Missense_Mutation	SNP	T	TCGA-BA-5555-01A-01D-1512-08	11386081	17434265	117572251	87	2594											
LRRC4C	57689	broad.mit.edu	37	chr11	40137138	40137138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaccctggaaagagccaggCctgatggcagataaatgatt	15	7	11	8	0	0	4	0	2	0	2	0	5	0	5	3	3	2	1	3	3	4	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:40137138C>A	ENST00000278198.2	-	2	2668	c.705G>T	c.(703-705)agG>agT	p.R235S	LRRC4C_ENST00000530763.1_Missense_Mutation_p.R235S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R235S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R235S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	235					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGAGCCAGGCCTGATGGCAG	0.463													29	151					2.65835e-16	3.02085e-16	1	0	A	40137138	C	A	40137138	3	1	10	1	0	0	0	0	1	0	0	0	9072	738	26	4	1221	4	LRRC4C	11	40137138	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	22702873	40137138	94869378	88	2595											
OR4C3	256144	broad.mit.edu	37	chr11	48346805	48346805	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcttcttctatggctcctAaactcattgctgactcattg	8	17	5	11	0	5	1	2	1	3	0	6	1	6	1	1	1	2	2	1	1	3	7			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:48346805A>G	ENST00000319856.4	+	1	334	c.313A>G	c.(313-315)Aaa>Gaa	p.K105E		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TATGGCTCCTAAACTCATTGC	0.463													15	313					0	0	0	0	G	48346805	A	G	48346805	3	3	10	1	0	0	0	0	1	0	0	0	11121	363	13	5	315	5	OR4C3	11	48346805	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	8209667	48346805	86659711	89	2596											
OR5D14	219436	broad.mit.edu	37	chr11	55563331	55563331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctactttagctgcatGatgcagtacttcctgtcctg	7	16	7	11	0	2	1	0	1	2	0	4	1	4	1	2	0	5	4	2	0	3	6			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:55563331G>T	ENST00000335605.1	+	1	300	c.300G>T	c.(298-300)atG>atT	p.M100I		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTAGCTGCATGATGCAGTACT	0.458													43	110					1.03325e-14	1.16095e-14	1	0	T	55563331	G	T	55563331	3	4	10	1	0	0	0	0	1	0	0	0	11226	1290	45	2	302	2	OR5D14	11	55563331	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	7216526	55563331	79443185	90	2597											
GIF	2694	broad.mit.edu	37	chr11	59603312	59603312	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttttgcgctgtgcttcctCtaggacaacaagtaacactg	10	13	8	10	1	1	0	0	0	1	0	2	1	2	1	1	1	4	3	1	1	4	5			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:59603312C>G	ENST00000541311.1	-	7	1201	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	GIF_ENST00000257248.2_Missense_Mutation_p.E348Q			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	348					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TGTGCTTCCTCTAGGACAACA	0.413													106	292					0	0	0	0	G	59603312	C	G	59603312	3	3	10	1	0	0	0	0	1	0	0	0	6427	922	32	2	223	2	GIF	11	59603312	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	4039981	59603312	75403204	91	2598											
AHNAK	79026	broad.mit.edu	37	chr11	62294809	62294809	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatttgggccttccacagcTacttctggcatgtcagcatc	7	12	8	14	0	2	0	1	0	1	0	4	0	3	0	3	2	3	3	3	2	1	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:62294809T>C	ENST00000378024.4	-	5	7354	c.7080A>G	c.(7078-7080)gtA>gtG	p.V2360V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2360					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCCACAGCTACTTCTGGCA	0.453													112	384					0	0	0	0	C	62294809	T	C	62294809	2	2	10	1	0	0	0	0	0	0	0	1	414	1509	53	5		5	AHNAK	11	62294809	Silent	SNP	T	TCGA-BA-5555-01A-01D-1512-08	2691497	62294809	72711707	92	2599											
KRTAP5-11	440051	broad.mit.edu	37	chr11	71293827	71293827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccacagcccccactgccGgagccacagcccccacagcc	9	1	9	22	1	0	0	0	0	0	0	0	2	0	1	8	1	6	0	8	1	0	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:71293827G>A	ENST00000398530.1	-	1	94	c.57C>T	c.(55-57)tcC>tcT	p.S19S	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	19						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCACTGCCGGAGCCACAGC	0.632													22	45					0	0	0	0	A	71293827	G	A	71293827	2	1	10	1	0	0	0	0	0	0	0	1	8613	1103	39	1		1	KRTAP5-11	11	71293827	Silent	SNP	G	TCGA-BA-5555-01A-01D-1512-08	8999018	71293827	63712689	93	2600											
RAB38	23682	broad.mit.edu	37	chr11	87908418	87908418	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcaccttgagcgcgaaGtccacgccgattgtggcccg	7	7	14	13	5	0	1	0	1	0	0	1	4	1	2	4	2	2	1	4	2	1	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:87908418G>A	ENST00000243662.6	-	1	217	c.135C>T	c.(133-135)gaC>gaT	p.D45D		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	45					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGAGCGCGAAGTCCACGCCGA	0.632													37	34					0	0	0	0	A	87908418	G	A	87908418	2	1	10	1	0	0	0	0	0	0	0	1	13010	1020	36	4		4	RAB38	11	87908418	Silent	SNP	G	TCGA-BA-5555-01A-01D-1512-08	16614591	87908418	47098098	94	2601											
ST14	6768	broad.mit.edu	37	chr11	130058529	130058529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccactgagtttgtaagcCtggccagcaaggtgaaggac	11	8	12	10	0	0	2	0	2	0	0	1	3	1	3	3	3	2	3	3	3	3	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:130058529C>T	ENST00000278742.5	+	3	764	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	116					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTTTGTAAGCCTGGCCAGCAA	0.572													54	57					0	0	0	0	T	130058529	C	T	130058529	2	4	10	1	0	0	0	0	0	0	0	1	15301	680	24	4		4	ST14	11	130058529	Silent	SNP	C	TCGA-BA-5555-01A-01D-1512-08	42150111	130058529	4947987	95	2602											
GLB1L3	112937	broad.mit.edu	37	chr11	134153634	134153634	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccctcttgcccccagctgGctcctgcaagacccccggtt	4	8	9	20	1	1	1	0	0	1	1	2	1	2	1	7	2	3	4	7	2	1	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:134153634G>C	ENST00000389887.5	+	6	3027	c.531G>C	c.(529-531)tgG>tgC	p.W177C	GLB1L3_ENST00000431683.2_Missense_Mutation_p.W177C			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	177					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCCCCAGCTGGCTCCTGCAAG	0.592													7	8					0	0	0	0	C	134153634	G	C	134153634	3	2	10	1	0	0	0	0	1	0	0	0	6481	1212	42	4	553	4	GLB1L3	11	134153634	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	4095105	134153634	852882	96	2603											
KLRG1	10219	broad.mit.edu	37	chr12	9162052	9162052	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatagctttgtgcagacatgCggtgccatcaacaaaaatgg	14	9	10	8	1	1	1	1	0	0	1	1	1	1	1	1	2	5	2	1	2	5	2	rs145154967		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:9162052C>A	ENST00000266551.4	+	5	504	c.489C>A	c.(487-489)tgC>tgA	p.C163*	KLRG1_ENST00000538029.1_3'UTR|KLRG1_ENST00000356986.3_Nonsense_Mutation_p.C163*	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	163	C-type lectin.				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						TGCAGACATGCGGTGCCATCA	0.433													38	92					2.04263e-09	2.19638e-09	1	0	A	9162052	C	A	9162052	4	1	10	1	0	0	0	0	0	1	0	0	8473	776	27	3	507	3	KLRG1	12	9162052	Nonsense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08		9162052	124689843	97	2604											
LDHB	3945	broad.mit.edu	37	chr12	21791345	21791345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actatcattgtcagttcccaTttctggattcaattcctgga	9	16	6	10	0	4	0	3	0	1	0	6	2	6	2	2	2	0	1	2	2	2	6			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:21791345T>C	ENST00000396076.1	-	6	987	c.655A>G	c.(655-657)Atg>Gtg	p.M219V	LDHB_ENST00000350669.1_Missense_Mutation_p.M219V	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	219					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	TCAGTTCCCATTTCTGGATTC	0.358													57	122					0	0	0	0	C	21791345	T	C	21791345	3	2	10	1	0	0	0	0	1	0	0	0	8754	1493	52	5	361	5	LDHB	12	21791345	Missense_Mutation	SNP	T	TCGA-BA-5555-01A-01D-1512-08	12629293	21791345	112060550	98	2605											
AMIGO2	347902	broad.mit.edu	37	chr12	47472679	47472679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggcacaccccagaggcaCcagggcccacagtcactgtg	9	4	13	15	0	1	1	1	0	0	1	1	1	1	1	4	4	0	2	4	4	0	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:47472679C>G	ENST00000266581.4	-	2	573	c.107G>C	c.(106-108)gGt>gCt	p.G36A	AMIGO2_ENST00000550413.1_Missense_Mutation_p.G36A|AMIGO2_ENST00000321382.3_Missense_Mutation_p.G36A|AMIGO2_ENST00000429635.1_Missense_Mutation_p.G36A	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	36					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CCCAGAGGCACCAGGGCCCAC	0.587													47	104					0	0	0	0	G	47472679	C	G	47472679	3	3	10	1	0	0	0	0	1	0	0	0	576	507	18	4	1465	4	AMIGO2	12	47472679	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	25681334	47472679	86379216	99	2606											
PTPRR	5801	broad.mit.edu	37	chr12	71158499	71158499	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctaaagctgcagccacTccttggcggaagatccgaag	11	7	11	12	2	0	1	0	0	0	1	3	3	3	2	4	2	3	2	4	2	4	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:71158499T>G	ENST00000283228.2	-	3	869	c.417A>C	c.(415-417)ggA>ggC	p.G139G	PTPRR_ENST00000342084.4_Silent_p.G27G	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	139					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTGCAGCCACTCCTTGGCGGA	0.408													63	91					0	0	0	0	G	71158499	T	G	71158499	2	3	10	1	0	0	0	0	0	0	0	1	12892	1538	54	5		5	PTPRR	12	71158499	Silent	SNP	T	TCGA-BA-5555-01A-01D-1512-08	23685820	71158499	62693396	100	2607											
ACSS3	79611	broad.mit.edu	37	chr12	81472119	81472119	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcggtgaccgaccccGagaggttctggggcaaagct	8	6	14	13	3	1	2	0	1	1	1	2	4	1	2	4	4	2	3	4	4	1	1	rs144134515		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:81472119G>T	ENST00000548058.1	+	1	1130	c.220G>T	c.(220-222)Gag>Tag	p.E74*	ACSS3_ENST00000261206.3_Nonsense_Mutation_p.E74*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	74						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GACCGACCCCGAGAGGTTCTG	0.657													12	64					9.04627e-18	1.0398e-17	1	0	T	81472119	G	T	81472119	4	4	10	1	0	0	0	0	0	1	0	0	190	1059	37	3	222	3	ACSS3	12	81472119	Nonsense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	10313620	81472119	52379776	101	2608											
VEZT	55591	broad.mit.edu	37	chr12	95660258	95660258	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcataagagctttgagatTatggaggacagccaaactac	14	9	11	7	0	1	2	1	1	0	2	1	5	1	4	1	3	4	1	1	3	4	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:95660258T>A	ENST00000436874.1	+	5	665	c.560T>A	c.(559-561)tTa>tAa	p.L187*	VEZT_ENST00000261219.6_Nonsense_Mutation_p.L139*|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	187						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GCTTTGAGATTATGGAGGACA	0.428													132	210					0	0	0	0	A	95660258	T	A	95660258	4	1	10	1	0	0	0	0	0	1	0	0	17252	1764	61	5	578	5	VEZT	12	95660258	Nonsense_Mutation	SNP	T	TCGA-BA-5555-01A-01D-1512-08	14188139	95660258	38191637	102	2609											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100502306	100502319	+	Frame_Shift_Del	DEL	GGAGATAAATTTTT	GGAGATAAATTTTT	-																															tacttagatttatcttgtcaGgagataaatttttggtaaat																										TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:100502306_100502319delGGAGATAAATTTTT	ENST00000279907.7	-	2	264_277	c.52_65delAAAAATTTATCTCC	c.(52-66)tfs	p.KNLSP18fs	UHRF1BP1L_ENST00000356828.3_Frame_Shift_Del_p.KNLSP18fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	18										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TATCTTGTCAGGAGATAAATTTTTGGTAAATCTG	0.313													30	88	---	---	---	---					-	100502319	GGAGATAAATTTTT	-	100502306	7	5	10	1	0	1	0	1	0	0	0	0	17065	1000	35	0	4433	0	UHRF1BP1L	12	100502306	Frame_Shift_Del	DEL	GGAGATAAATTTTT	TCGA-BA-5555-01A-01D-1512-08	4842048	100502306	33349589	103	2610											
RFX4	5992	broad.mit.edu	37	chr12	107126787	107126787	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctccagcaaaatctgcCacatctgtggaagtgccacc	10	11	7	13	0	3	0	0	0	3	0	4	1	3	1	4	1	3	1	4	1	3	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:107126787C>G	ENST00000392842.1	+	15	1971	c.1557C>G	c.(1555-1557)gcC>gcG	p.A519A	RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000229387.5_Silent_p.A425A|RFX4_ENST00000357881.4_Silent_p.A528A|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	519					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CAAAATCTGCCACATCTGTGG	0.507													74	122					0	0	0	0	G	107126787	C	G	107126787	2	3	10	1	0	0	0	0	0	0	0	1	13347	581	21	4		4	RFX4	12	107126787	Silent	SNP	C	TCGA-BA-5555-01A-01D-1512-08	6624481	107126787	26725108	104	2611											
KDM2B	84678	broad.mit.edu	37	chr12	121878774	121878774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgacagcaccaagtccCggagccctggggggacatag	10	4	14	13	1	0	1	0	1	0	0	1	3	1	3	4	4	3	1	4	4	2	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:121878774C>T	ENST00000377069.4	-	20	3654	c.3248G>A	c.(3247-3249)cGg>cAg	p.R1083Q	KDM2B_ENST00000377071.4_Missense_Mutation_p.R1152Q|KDM2B_ENST00000542973.1_Missense_Mutation_p.R520Q|KDM2B_ENST00000536437.1_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1152	F-box.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CACCAAGTCCCGGAGCCCTGG	0.647													14	66					0	0	0	0	T	121878774	C	T	121878774	3	4	10	1	0	0	0	0	1	0	0	0	8178	652	23	1	619	1	KDM2B	12	121878774	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	14751987	121878774	11973121	105	2612											
PIWIL1	9271	broad.mit.edu	37	chr12	130851726	130851726	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagagtgaacaccagattTtttgctcagtctggaggaag	14	10	11	6	0	2	3	1	1	1	2	2	5	2	5	1	2	2	1	1	2	4	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:130851726T>G	ENST00000245255.3	+	19	2516	c.2244T>G	c.(2242-2244)ttT>ttG	p.F748L	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	748	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACACCAGATTTTTTGCTCAGT	0.408													45	198					0	0	0	0	G	130851726	T	G	130851726	3	3	10	1	0	0	0	0	1	0	0	0	12029	1838	64	5	2314	5	PIWIL1	12	130851726	Missense_Mutation	SNP	T	TCGA-BA-5555-01A-01D-1512-08	8972952	130851726	3000169	106	2613											
CDADC1	81602	broad.mit.edu	37	chr13	49823089	49823089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttccagcagaagcccagcgGcaaaaatctcaggtataatt	14	9	8	10	1	1	1	1	0	1	1	3	1	2	1	2	2	3	3	2	2	5	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr13:49823089G>A	ENST00000251108.6	+	2	278	c.165G>A	c.(163-165)cgG>cgA	p.R55R	CDADC1_ENST00000538056.1_Silent_p.R55R|CDADC1_ENST00000496952.1_3'UTR|CDADC1_ENST00000444959.1_5'UTR	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	55							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		AAGCCCAGCGGCAAAAATCTC	0.413													5	209					0	0	0	0	A	49823089	G	A	49823089	2	1	10	1	0	0	0	0	0	0	0	1	3082	1190	42	4		4	CDADC1	13	49823089	Silent	SNP	G	TCGA-BA-5555-01A-01D-1512-08		49823089	65346789	107	2614											
PCDH9	5101	broad.mit.edu	37	chr13	67799767	67799767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagatttgtagtgcttggCcaggtcaggactgttaggct	8	12	14	7	0	1	1	1	0	0	1	1	2	1	2	1	4	2	5	1	4	2	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr13:67799767C>A	ENST00000544246.1	-	2	3497	c.2806G>T	c.(2806-2808)Gcc>Tcc	p.A936S	PCDH9_ENST00000377861.3_Missense_Mutation_p.A936S|PCDH9_ENST00000456367.1_Missense_Mutation_p.A936S|PCDH9_ENST00000377865.2_Missense_Mutation_p.A936S|PCDH9_ENST00000328454.5_Missense_Mutation_p.A936S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	936					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAGTGCTTGGCCAGGTCAGGA	0.502													67	88					5.26073e-25	6.22571e-25	1	0	A	67799767	C	A	67799767	3	1	10	1	0	0	0	0	1	0	0	0	11589	739	26	4	923	4	PCDH9	13	67799767	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	17976678	67799767	47370111	108	2615											
SLITRK6	84189	broad.mit.edu	37	chr13	86369608	86369608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgttgcgctcctgacaatGtattagaagtcctgatgggg	10	12	12	7	1	0	3	0	2	0	1	2	3	2	3	2	2	1	3	2	2	5	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr13:86369608G>A	ENST00000400286.2	-	2	1634	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	346	LRRNT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCTGACAATGTATTAGAAGT	0.408													70	97					0	0	0	0	A	86369608	G	A	86369608	3	1	10	1	0	0	0	0	1	0	0	0	14835	1377	48	4	1493	4	SLITRK6	13	86369608	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	18569841	86369608	28800270	109	2616											
OR4M1	441670	broad.mit.edu	37	chr14	20248817	20248817	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgttggggcttcggagatGttcttgctcacagtgatggc	5	15	14	7	1	2	2	1	1	1	1	3	3	2	2	0	4	1	4	0	4	0	5			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:20248817G>C	ENST00000315957.4	+	1	417	c.336G>C	c.(334-336)atG>atC	p.M112I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCGGAGATGTTCTTGCTCA	0.478													153	598					0	0	0	0	C	20248817	G	C	20248817	3	2	10	1	0	0	0	0	1	0	0	0	11146	1377	48	4	338	4	OR4M1	14	20248817	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08		20248817	87100723	110	2617											
TEP1	7011	broad.mit.edu	37	chr14	20849089	20849089	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagccagtgactcatctcaCcatagagggcatgggcctcc	9	7	10	15	0	2	2	2	1	1	1	4	2	3	2	5	2	1	1	5	2	1	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:20849089C>T	ENST00000262715.5	-	33	4803		c.e33+1		TEP1_ENST00000556935.1_Splice_Site|TEP1_ENST00000545983.1_Splice_Site	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1						telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACTCATCTCACCATAGAGGGC	0.577													23	70					0	0	0	0	T	20849089	C	T	20849089	5	4	10	1	0	0	0	0	0	0	1	0	15853	521	18	4	3212	4	TEP1	14	20849089	Splice_Site	SNP	C	TCGA-BA-5555-01A-01D-1512-08	600272	20849089	86500451	111	2618											
GOLGA5	9950	broad.mit.edu	37	chr14	93277936	93277936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaagtggaaatggaacGtcagaatttagcagaagcaa	19	8	10	4	1	1	2	1	0	0	2	1	4	1	4	0	2	3	2	0	2	9	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:93277936G>A	ENST00000163416.2	+	6	1413	c.1157G>A	c.(1156-1158)cGt>cAt	p.R386H	GOLGA5_ENST00000355976.2_Missense_Mutation_p.R386H	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	386					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GAAATGGAACGTCAGAATTTA	0.358			T	RET	papillary thyroid								42	120					0	0	0	0	A	93277936	G	A	93277936	3	1	10	1	0	0	0	0	1	0	0	0	6607	1145	40	1	1175	1	GOLGA5	14	93277936	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	72428847	93277936	14071604	112	2619											
RYR3	6263	broad.mit.edu	37	chr15	33936553	33936553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctatctcagatcggcCgcatgaatctcgggacagat	9	10	12	10	3	3	3	1	1	3	2	6	4	3	4	1	3	0	1	1	3	2	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:33936553C>A	ENST00000389232.4	+	28	3668	c.3598C>A	c.(3598-3600)Cgc>Agc	p.R1200S	RYR3_ENST00000415757.3_Missense_Mutation_p.R1200S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1200	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAGATCGGCCGCATGAATCT	0.517													13	9					1.05317e-09	1.13856e-09	1	0	A	33936553	C	A	33936553	3	1	10	1	0	0	0	0	1	0	0	0	13855	652	23	3	3708	3	RYR3	15	33936553	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08		33936553	68594839	113	2620											
ACTC1	70	broad.mit.edu	37	chr15	35086967	35086967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcaccagcccagagcCgttgtcgcacaccagggcgg	7	5	13	16	3	1	1	1	0	0	1	2	1	1	1	5	3	2	2	5	3	0	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:35086967C>A	ENST00000290378.4	-	2	698	c.43G>T	c.(43-45)Ggc>Tgc	p.G15C	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	15					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGCCCAGAGCCGTTGTCGCAC	0.677													61	59					2.79145e-41	3.53348e-41	1	0	A	35086967	C	A	35086967	3	1	10	1	0	0	0	0	1	0	0	0	195	652	23	3	1114	3	ACTC1	15	35086967	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	1150414	35086967	67444425	114	2621											
ITPKA	3706	broad.mit.edu	37	chr15	41795316	41795316	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgaggacggctatttgctGgggctggacaatctcattgg	7	10	15	9	3	1	0	1	0	1	0	2	3	1	2	0	6	1	3	0	6	2	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:41795316G>A	ENST00000260386.5	+	7	1391	c.1338G>A	c.(1336-1338)ctG>ctA	p.L446L		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	446					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCTATTTGCTGGGGCTGGACA	0.662													19	16					0	0	0	0	A	41795316	G	A	41795316	2	1	10	1	0	0	0	0	0	0	0	1	7970	1335	47	4		4	ITPKA	15	41795316	Silent	SNP	G	TCGA-BA-5555-01A-01D-1512-08	6708349	41795316	60736076	115	2622											
THSD4	79875	broad.mit.edu	37	chr15	72023481	72023481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatacaccagcagccaaacCcaggcgtgcactacgagtac	13	5	9	14	2	0	1	0	1	0	0	0	2	0	1	3	1	7	3	3	1	4	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:72023481C>A	ENST00000355327.3	+	10	1689	c.1555C>A	c.(1555-1557)Cca>Aca	p.P519T	THSD4_ENST00000261862.6_Missense_Mutation_p.P519T|THSD4_ENST00000357769.4_Missense_Mutation_p.P159T|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	519						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCAGCCAAACCCAGGCGTGCA	0.552											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	67					4.36969e-10	4.74966e-10	1	0	A	72023481	C	A	72023481	3	1	10	1	0	0	0	0	1	0	0	0	15972	623	22	4	1589	4	THSD4	15	72023481	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	30228165	72023481	30507911	116	2623											
AKAP13	11214	broad.mit.edu	37	chr15	86260576	86260576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcctgtctcattcaacaGactcactaaataaaatcagc	16	11	3	11	0	4	1	4	0	1	1	6	1	5	1	1	0	2	0	1	0	6	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:86260576G>A	ENST00000394518.2	+	21	5886	c.5791G>A	c.(5791-5793)Gac>Aac	p.D1931N	AKAP13_ENST00000394510.2_Missense_Mutation_p.D176N|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.D1935N	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1931	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCATTCAACAGACTCACTAAA	0.378													26	39					0	0	0	0	A	86260576	G	A	86260576	3	1	10	1	0	0	0	0	1	0	0	0	449	942	33	2	5939	2	AKAP13	15	86260576	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	14237095	86260576	16270816	117	2624											
ZNF263	10127	broad.mit.edu	37	chr16	3340026	3340026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacagttccaacctccttcGgcaccagagaattcacactg	11	9	6	15	1	2	1	2	0	0	1	5	2	4	1	4	1	1	2	4	1	2	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:3340026G>A	ENST00000219069.5	+	6	2396	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q	ZNF263_ENST00000538765.1_Missense_Mutation_p.R155Q	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	507					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						AACCTCCTTCGGCACCAGAGA	0.522													20	58					0	0	0	0	A	3340026	G	A	3340026	3	1	10	1	0	0	0	0	1	0	0	0	17898	1116	39	1	1542	1	ZNF263	16	3340026	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08		3340026	87014727	118	2625											
PDZD9	255762	broad.mit.edu	37	chr16	21995735	21995735	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatggagaaggggccctCacttctttcttgtcgtctct	6	14	10	11	1	4	1	1	0	3	1	6	2	4	1	1	3	0	1	1	3	2	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:21995735C>A	ENST00000286143.6	-	5	783	c.462G>T	c.(460-462)gtG>gtT	p.V154V	PDZD9_ENST00000537222.2_Silent_p.V156V|PDZD9_ENST00000424898.2_Silent_p.V216V			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	216										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						AAGGGGCCCTCACTTCTTTCT	0.433													164	349					6.73164e-69	8.91608e-69	1	0	A	21995735	C	A	21995735	2	1	10	1	0	0	0	0	0	0	0	1	11777	813	29	2		2	PDZD9	16	21995735	Silent	SNP	C	TCGA-BA-5555-01A-01D-1512-08	18655709	21995735	68359018	119	2626											
VWA3A	146177	broad.mit.edu	37	chr16	22130326	22130326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcagcccctgtgaggCgctcacctgcaccatggagg	8	5	13	15	1	1	1	1	1	0	0	1	2	1	2	4	3	3	4	4	3	0	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:22130326C>A	ENST00000389398.5	+	12	1190	c.1094C>A	c.(1093-1095)gCg>gAg	p.A365E	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	365						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCCTGTGAGGCGCTCACCTGC	0.612													9	25					2.17888e-05	2.29355e-05	1	0	A	22130326	C	A	22130326	3	1	10	1	0	0	0	0	1	0	0	0	17336	768	27	3	1140	3	VWA3A	16	22130326	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	134591	22130326	68224427	120	2627											
CDH5	1003	broad.mit.edu	37	chr16	66426206	66426206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagcctttctaccacttCcagctgaaggaaaaccagaa	14	7	7	13	0	1	2	0	1	1	1	2	3	2	3	4	1	5	2	4	1	5	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:66426206C>A	ENST00000341529.3	+	7	1285	c.1137C>A	c.(1135-1137)ttC>ttA	p.F379L	CDH5_ENST00000563425.2_Missense_Mutation_p.F379L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	379	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TCTACCACTTCCAGCTGAAGG	0.552													67	120					1.26778e-28	1.5367e-28	1	0	A	66426206	C	A	66426206	3	1	10	1	0	0	0	0	1	0	0	0	3142	854	30	2	1159	2	CDH5	16	66426206	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	44295880	66426206	23928547	121	2628											
HYDIN	54768	broad.mit.edu	37	chr16	70852359	70852359	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacttgatggaggctgaCgcaacttgccggactggggt	8	9	14	10	2	0	2	0	2	0	0	1	4	1	4	2	5	3	2	2	5	2	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:70852359C>T	ENST00000393567.2	-	84	14694	c.14544G>A	c.(14542-14544)gcG>gcA	p.A4848A		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4848										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGAGGCTGACGCAACTTGCC	0.547													12	15					0	0	0	0	T	70852359	C	T	70852359	2	4	10	1	0	0	0	0	0	0	0	1	7520	523	19	1		1	HYDIN	16	70852359	Silent	SNP	C	TCGA-BA-5555-01A-01D-1512-08	4426153	70852359	19502394	122	2629											
SHPK	23729	broad.mit.edu	37	chr17	3526640	3526640	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgatactcacgtctctaCgttccagctttggctctgcg	6	14	9	12	3	3	1	1	1	2	0	5	1	4	1	1	1	4	3	1	1	2	4	rs111475678		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:3526640C>A	ENST00000225519.3	-	4	742	c.640G>T	c.(640-642)Gta>Tta	p.V214L		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	214					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CACGTCTCTACGTTCCAGCTT	0.557													129	73					4.27115e-56	5.5832e-56	1	0	A	3526640	C	A	3526640	3	1	10	1	0	0	0	0	1	0	0	0	14378	536	19	3	812	3	SHPK	17	3526640	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08		3526640	77668570	123	2630											
TP53	7157	broad.mit.edu	37	chr17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaggaactgttacacatgTagttgtagtggatggtggta	10	13	14	4	0	0	0	0	0	0	0	0	2	0	2	0	4	3	6	0	4	5	5			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTACACATGTAGTTGTAGTG	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			40	32					0	0	0	0	C	7577574	T	C	7577574	3	2	10	1	0	0	0	0	1	0	0	0	16476	1638	57	5	583	5	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-BA-5555-01A-01D-1512-08	4050934	7577574	73617636	124	2631											
RNFT1	51136	broad.mit.edu	37	chr17	58040557	58040557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcactgcttccagttcctgGaggactgtgcagttggctac	6	12	11	12	0	1	0	1	0	0	0	3	2	3	2	2	3	3	5	2	3	1	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:58040557G>A	ENST00000305783.8	-	2	200	c.145C>T	c.(145-147)Cca>Tca	p.P49S	RNFT1_ENST00000442346.2_Missense_Mutation_p.P12S|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	49						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			CCAGTTCCTGGAGGACTGTGC	0.483													81	67					0	0	0	0	A	58040557	G	A	58040557	3	1	10	1	0	0	0	0	1	0	0	0	13586	1174	41	2	1194	2	RNFT1	17	58040557	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	50462983	58040557	23154653	125	2632											
FASN	2194	broad.mit.edu	37	chr17	80041948	80041948	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatgagcagcgtctccccGgggcgcacccgcccacgcac	6	4	13	18	5	1	1	0	1	1	0	2	2	1	2	4	3	2	3	4	3	0	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:80041948G>A	ENST00000306749.2	-	29	5219	c.5001C>T	c.(4999-5001)ccC>ccT	p.P1667P		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1667	Enoyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCGTCTCCCCGGGGCGCACCC	0.721													3	4					0	0	0	0	A	80041948	G	A	80041948	2	1	10	1	0	0	0	0	0	0	0	1	5728	1103	39	1		1	FASN	17	80041948	Silent	SNP	G	TCGA-BA-5555-01A-01D-1512-08	22001391	80041948	1153262	126	2633											
LAMA1	284217	broad.mit.edu	37	chr18	6999495	6999495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggttcacactcatcgcaccGgagccccgaggcccccagcc	7	4	10	20	4	2	0	2	0	0	0	3	2	2	1	6	3	2	2	6	3	0	1	rs149937004		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:6999495G>A	ENST00000389658.3	-	32	4705	c.4612C>T	c.(4612-4614)Cgg>Tgg	p.R1538W		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1538	Laminin EGF-like 17.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATCGCACCGGAGCCCCGAG	0.537													7	31					0	0	0	0	A	6999495	G	A	6999495	3	1	10	1	0	0	0	0	1	0	0	0	8658	1115	39	1	4743	1	LAMA1	18	6999495	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08		6999495	71077753	127	2634											
CEP192	55125	broad.mit.edu	37	chr18	13069788	13069788	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccaaagaatctactccttAaacctggagaagaacatgag	17	8	7	9	0	1	4	0	1	1	3	3	5	3	4	3	1	3	0	3	1	7	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:13069788A>T	ENST00000506447.1	+	27	5187	c.5107A>T	c.(5107-5109)Aaa>Taa	p.K1703*	CEP192_ENST00000430049.2_Nonsense_Mutation_p.K1228*|CEP192_ENST00000325971.8_Nonsense_Mutation_p.K1107*	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1298										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCTACTCCTTAAACCTGGAGA	0.378													56	158					0	0	0	0	T	13069788	A	T	13069788	4	4	10	1	0	0	0	0	0	1	0	0	3280	363	13	5	5209	5	CEP192	18	13069788	Nonsense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	6070293	13069788	65007460	128	2635											
SMAD4	4089	broad.mit.edu	37	chr18	48604809	48604809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtacttcataccatgcCgattgcagacccacaacctt	12	9	6	14	2	1	1	1	0	0	1	1	3	1	1	4	0	5	2	4	0	4	5			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:48604809C>T	ENST00000342988.3	+	12	2169	c.1631C>T	c.(1630-1632)cCg>cTg	p.P544L	SMAD4_ENST00000398417.2_Missense_Mutation_p.P544L|SMAD4_ENST00000588745.1_Missense_Mutation_p.P448L|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	544	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CATACCATGCCGATTGCAGAC	0.463													6	139					0	0	0	0	T	48604809	C	T	48604809	3	4	10	1	0	0	0	0	1	0	0	0	14848	652	23	1	1673	1	SMAD4	18	48604809	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	35535021	48604809	29472439	129	2636											
SERPINB8	5271	broad.mit.edu	37	chr18	61654402	61654402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtggtcaggaattccCggtgcagcagaatggagcca	9	8	14	10	1	1	1	1	0	0	1	2	3	2	3	2	4	4	3	2	4	2	1	rs150328649	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:61654402C>T	ENST00000397985.2	+	7	1271	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Missense_Mutation_p.R339W|SERPINB8_ENST00000542677.1_Missense_Mutation_p.R157W	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	339		Reactive bond (By similarity).			regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	p.R339R(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAGGAATTCCCGGTGCAGCAG	0.532													19	59					0	0	0	0	T	61654402	C	T	61654402	3	4	10	1	0	0	0	0	1	0	0	0	14194	643	23	1	1050	1	SERPINB8	18	61654402	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	13049593	61654402	16422846	130	2637											
CDH7	1005	broad.mit.edu	37	chr18	63511092	63511092	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttacacgctacggatagaAgctgcaaataaagatgccga	16	7	10	8	3	0	2	0	0	0	2	0	4	0	3	1	1	5	4	1	1	7	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:63511092A>T	ENST00000536984.2	+	7	1720	c.1026A>T	c.(1024-1026)gaA>gaT	p.E342D	CDH7_ENST00000323011.3_Missense_Mutation_p.E342D|CDH7_ENST00000397968.2_Missense_Mutation_p.E342D			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	342	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TACGGATAGAAGCTGCAAATA	0.443													47	95					0	0	0	0	T	63511092	A	T	63511092	3	4	10	1	0	0	0	0	1	0	0	0	3144	69	3	5	1048	5	CDH7	18	63511092	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	1856690	63511092	14566156	131	2638											
CDH7	1005	broad.mit.edu	37	chr18	63529970	63529970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaatcagtttactatctgCcaattttcattgtggacagt	12	15	6	8	0	3	0	2	0	1	0	3	1	3	1	1	1	3	1	1	1	5	6			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:63529970C>T	ENST00000536984.2	+	11	2375	c.1681C>T	c.(1681-1683)Cca>Tca	p.P561S	CDH7_ENST00000323011.3_Missense_Mutation_p.P561S|CDH7_ENST00000397968.2_Missense_Mutation_p.P561S			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	561	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTACTATCTGCCAATTTTCAT	0.498													26	74					0	0	0	0	T	63529970	C	T	63529970	3	4	10	1	0	0	0	0	1	0	0	0	3144	739	26	4	1719	4	CDH7	18	63529970	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08	18878	63529970	14547278	132	2639											
ZNF516	9658	broad.mit.edu	37	chr18	74154265	74154265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggccacacacctcgcacGggaactccccggggctcagc	7	4	11	19	3	1	0	1	0	0	0	3	1	2	1	5	4	2	2	5	4	1	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:74154265G>A	ENST00000443185.2	-	3	1063	c.746C>T	c.(745-747)cCg>cTg	p.P249L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CACCTCGCACGGGAACTCCCC	0.687													16	34					0	0	0	0	A	74154265	G	A	74154265	3	1	10	1	0	0	0	0	1	0	0	0	18055	1116	39	1	2766	1	ZNF516	18	74154265	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	10624295	74154265	3922983	133	2640											
SALL3	27164	broad.mit.edu	37	chr18	76754386	76754386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgagcagctacgatgacGacatggacgagaactccatg	12	6	11	12	3	0	3	0	2	0	1	1	7	1	4	2	1	4	2	2	1	2	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:76754386G>A	ENST00000536229.3	+	1	2705	c.1996G>A	c.(1996-1998)Gac>Aac	p.D666N	SALL3_ENST00000537592.2_Missense_Mutation_p.D799N|SALL3_ENST00000575389.2_Missense_Mutation_p.D799N			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTACGATGACGACATGGACGA	0.662													15	47					0	0	0	0	A	76754386	G	A	76754386	3	1	10	1	0	0	0	0	1	0	0	0	13897	1058	37	1	2401	1	SALL3	18	76754386	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	2600121	76754386	1322862	134	2641											
MUC16	94025	broad.mit.edu	37	chr19	9014654	9014654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcttttggggtcaagaCggtgggtgcagatggcatcc	7	9	17	8	1	1	2	1	0	0	2	2	2	2	2	1	6	1	3	1	6	1	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:9014654C>T	ENST00000397910.4	-	31	38524	c.38321G>A	c.(38320-38322)cGt>cAt	p.R12774H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12776	SEA 5.			Missing (in Ref. 3; AAK74120).	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						GGGGTCAAGACGGTGGGTGCA	0.567													13	56					0	0	0	0	T	9014654	C	T	9014654	3	4	10	1	0	0	0	0	1	0	0	0	10043	536	19	1	5418	1	MUC16	19	9014654	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08		9014654	50114329	135	2642											
ICAM1	3383	broad.mit.edu	37	chr19	10394262	10394262	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcaccccgggccaaccTcaccgtggtgctgctccgtg	4	7	14	16	3	1	0	1	0	0	0	2	0	2	0	6	4	3	3	6	4	1	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:10394262T>A	ENST00000264832.3	+	3	762	c.437T>A	c.(436-438)cTc>cAc	p.L146H	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000585443.1_3'UTR|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	146	Ig-like C2-type 2.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CGGGCCAACCTCACCGTGGTG	0.667													8	50					0	0	0	0	A	10394262	T	A	10394262	3	1	10	1	0	0	0	0	1	0	0	0	7532	1551	54	5	447	5	ICAM1	19	10394262	Missense_Mutation	SNP	T	TCGA-BA-5555-01A-01D-1512-08	1379608	10394262	48734721	136	2643											
MYO9B	4650	broad.mit.edu	37	chr19	17283733	17283733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatggcagtgcttcgggagGccggacgcctgcgggccgag	5	5	18	13	5	0	0	0	0	0	0	1	3	0	2	4	5	2	2	4	5	0	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:17283733G>A	ENST00000595618.1	+	13	2253	c.2101G>A	c.(2101-2103)Gcc>Acc	p.A701T	MYO9B_ENST00000594824.1_Missense_Mutation_p.A701T|MYO9B_ENST00000397274.2_Missense_Mutation_p.A701T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	701	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCTTCGGGAGGCCGGACGCCT	0.687													4	33					0	0	0	0	A	17283733	G	A	17283733	3	1	10	1	0	0	0	0	1	0	0	0	10155	1203	42	4	2147	4	MYO9B	19	17283733	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	6889471	17283733	41845250	137	2644											
UPF1	5976	broad.mit.edu	37	chr19	18958606	18958606	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttactgtaataccagcaagaAgtggttctgcaacggacgtg	12	10	11	8	2	1	1	0	0	1	1	1	2	1	2	1	2	5	4	1	2	6	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:18958606A>G	ENST00000262803.5	+	3	697	c.425A>G	c.(424-426)aAg>aGg	p.K142R	UPF1_ENST00000599848.1_Missense_Mutation_p.K142R	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	142	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ACCAGCAAGAAGTGGTTCTGC	0.428											OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	99					0	0	0	0	G	18958606	A	G	18958606	3	3	10	1	0	0	0	0	1	0	0	0	17099	72	3	5	435	5	UPF1	19	18958606	Missense_Mutation	SNP	A	TCGA-BA-5555-01A-01D-1512-08	1674873	18958606	40170377	138	2645											
FBL	2091	broad.mit.edu	37	chr19	40327295	40327295	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccacatcagcaaagatCacatccaccattgctaagga	14	7	8	12	0	2	1	2	0	0	1	3	2	3	2	3	2	2	2	3	2	2	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:40327295C>A	ENST00000221801.3	-	7	809	c.696G>T	c.(694-696)gtG>gtT	p.V232V	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	232					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CAGCAAAGATCACATCCACCA	0.537													21	37					2.37509e-13	2.62441e-13	1	0	A	40327295	C	A	40327295	2	1	10	1	0	0	0	0	0	0	0	1	5741	813	29	2		2	FBL	19	40327295	Silent	SNP	C	TCGA-BA-5555-01A-01D-1512-08	21368689	40327295	18801688	139	2646											
KCNC3	3748	broad.mit.edu	37	chr19	50826517	50826517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagcccggttgcgggggccGggggatgtgtttgttcttct	2	12	18	9	4	2	0	0	0	2	0	2	2	2	1	2	5	2	3	2	5	0	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:50826517G>A	ENST00000376959.2	-	2	1856	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	KCNC3_ENST00000477616.1_Missense_Mutation_p.R565W|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	565					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		TGCGGGGGCCGGGGGATGTGT	0.662													16	8					0	0	0	0	A	50826517	G	A	50826517	3	1	10	1	0	0	0	0	1	0	0	0	8069	1115	39	1	592	1	KCNC3	19	50826517	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	10499222	50826517	8302466	140	2647											
ZNF419	79744	broad.mit.edu	37	chr19	58005043	58005043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagaaaggccttacaagtGcagcgactgtgggaaatttt	12	10	13	6	1	0	1	0	0	0	1	0	4	0	2	1	3	3	1	1	3	4	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:58005043G>A	ENST00000424930.2	+	5	1350	c.1121G>A	c.(1120-1122)tGc>tAc	p.C374Y	ZNF419_ENST00000354197.4_Missense_Mutation_p.C361Y|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.C361Y|ZNF419_ENST00000347466.6_Missense_Mutation_p.C341Y|ZNF419_ENST00000415379.2_Missense_Mutation_p.C327Y|ZNF419_ENST00000442920.2_Missense_Mutation_p.C360Y|ZNF419_ENST00000221735.7_Missense_Mutation_p.C373Y	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CCTTACAAGTGCAGCGACTGT	0.413													61	98					0	0	0	0	A	58005043	G	A	58005043	3	1	10	1	0	0	0	0	1	0	0	0	17991	1319	46	4	1139	4	ZNF419	19	58005043	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	7178526	58005043	1123940	141	2648											
ADAM33	80332	broad.mit.edu	37	chr20	3655704	3655704	+	Frame_Shift_Del	DEL	C	C	-																															ggggccagcaccactggctgCccatctgggccgtagtgggt																										TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:3655704delC	ENST00000356518.2	-	4	544	c.303delG	c.(301-303)ggfs	p.G101fs	ADAM33_ENST00000350009.2_Frame_Shift_Del_p.G101fs|ADAM33_ENST00000379861.4_Frame_Shift_Del_p.G101fs	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	101					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCACTGGCTGCCCATCTGGGC	0.612													14	18	---	---	---	---					-	3655704	C	-	3655704	7	5	10	1	0	1	0	1	0	0	0	0	250	726	26	0	2214	0	ADAM33	20	3655704	Frame_Shift_Del	DEL	C	TCGA-BA-5555-01A-01D-1512-08		3655704	59369816	142	2649											
TOP1	7150	broad.mit.edu	37	chr20	39706251	39706251	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggggatgcaaaaataaaGaaggagaaggaaaatggctt	18	7	13	3	0	1	2	0	0	1	2	1	5	1	4	0	5	1	2	0	5	8	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:39706251G>A	ENST00000361337.2	+	5	559	c.309G>A	c.(307-309)aaG>aaA	p.K103K		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	103	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	CAAAAATAAAGAAGGAGAAGG	0.438			T	NUP98	AML*								81	71					0	0	0	0	A	39706251	G	A	39706251	2	1	10	1	0	0	0	0	0	0	0	1	16458	933	33	2		2	TOP1	20	39706251	Silent	SNP	G	TCGA-BA-5555-01A-01D-1512-08	36050547	39706251	23319269	143	2650											
TOX2	84969	broad.mit.edu	37	chr20	42683010	42683010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagaagaagaaaaagaaGgaccccaatgagccgcagaa	20	1	11	9	2	0	6	0	1	0	5	0	8	0	7	4	1	1	1	4	1	8	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:42683010G>T	ENST00000358131.5	+	5	958	c.750G>T	c.(748-750)aaG>aaT	p.K250N	TOX2_ENST00000341197.3_Missense_Mutation_p.K241N|TOX2_ENST00000372999.1_Missense_Mutation_p.K199N|TOX2_ENST00000435864.2_Missense_Mutation_p.K119N|TOX2_ENST00000423191.1_Missense_Mutation_p.K199N	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	250	Poly-Lys.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGAAAAAGAAGGACCCCAATG	0.542													4	37					0.014758	0.0152144	1	0	T	42683010	G	T	42683010	3	4	10	1	0	0	0	0	1	0	0	0	16473	991	35	4	871	4	TOX2	20	42683010	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	2976759	42683010	20342510	144	2651											
MATN4	8785	broad.mit.edu	37	chr20	43933064	43933064	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggccacgcggtcctggggCcgcccgtctgtcacgatgac	4	7	14	16	6	2	1	1	1	1	0	4	2	3	1	4	4	0	0	4	4	0	0			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:43933064C>T	ENST00000537548.1	-	4	691	c.447G>A	c.(445-447)cgG>cgA	p.R149R	MATN4_ENST00000342716.4_Silent_p.R149R|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372754.1_Silent_p.R149R|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Silent_p.R149R|MATN4_ENST00000353917.5_Silent_p.R149R|MATN4_ENST00000360607.5_Silent_p.R149R			O95460	MATN4_HUMAN	matrilin 4	149	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GGTCCTGGGGCCGCCCGTCTG	0.721													6	7					0	0	0	0	T	43933064	C	T	43933064	2	4	10	1	0	0	0	0	0	0	0	1	9405	726	26	4		4	MATN4	20	43933064	Silent	SNP	C	TCGA-BA-5555-01A-01D-1512-08	1250054	43933064	19092456	145	2652											
PIGT	51604	broad.mit.edu	37	chr20	44045291	44045291	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccttcctgcaggccccaTcaggtgcagagctgtgggtc	6	8	12	15	0	1	1	1	0	0	1	3	1	2	1	4	3	3	3	4	3	0	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:44045291T>A	ENST00000279036.6	+	2	402	c.322T>A	c.(322-324)Tca>Aca	p.S108T	PIGT_ENST00000372689.5_Missense_Mutation_p.S108T|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000279035.9_Intron|PIGT_ENST00000535404.1_5'UTR|PIGT_ENST00000543458.2_Missense_Mutation_p.S108T|PIGT_ENST00000545755.1_Intron	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	108					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GCAGGCCCCATCAGGTGCAGA	0.582													7	35					0	0	0	0	A	44045291	T	A	44045291	3	1	10	1	0	0	0	0	1	0	0	0	11971	1435	50	5	328	5	PIGT	20	44045291	Missense_Mutation	SNP	T	TCGA-BA-5555-01A-01D-1512-08	112227	44045291	18980229	146	2653											
KCNB1	3745	broad.mit.edu	37	chr20	47991215	47991215	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcggaagatctggaccacGcggcggacattctggaattg	10	8	14	9	4	2	1	0	0	2	1	2	5	2	5	1	5	1	0	1	5	2	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:47991215G>A	ENST00000371741.4	-	2	1048	c.882C>T	c.(880-882)cgC>cgT	p.R294R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	294					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.R294R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTGGACCACGCGGCGGACAT	0.532													9	78					0	0	0	0	A	47991215	G	A	47991215	2	1	10	1	0	0	0	0	0	0	0	1	8065	1074	38	1		1	KCNB1	20	47991215	Silent	SNP	G	TCGA-BA-5555-01A-01D-1512-08	3945924	47991215	15034305	147	2654											
BAGE2	85319	broad.mit.edu	37	chr21	11047531	11047531	+	RNA	DEL	A	A	-																															tttcataattcgttgaagacAaaaagtatgataccctttgt																										TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr21:11047531delA	ENST00000470054.1	-	0	723									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGTTGAAGACAAAAAGTATGA	0.348													84	1070	---	---	---	---					-	11047531	A	-	11047531	6	5	10	0	1	1	0	1	0	0	0	0	1296	145	5	0		0	BAGE2	21	11047531	RNA	DEL	A	TCGA-BA-5555-01A-01D-1512-08		11047531	37082364	148	2655											
HSPA13	6782	broad.mit.edu	37	chr21	15753858	15753858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaggagagtcaaaacaGccgatcctgaaataaaggaa	19	4	9	9	1	1	2	1	1	0	1	2	5	2	3	3	2	3	0	3	2	7	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr21:15753858G>A	ENST00000285667.3	-	2	99	c.32C>T	c.(31-33)gCt>gTt	p.A11V	HSPA13_ENST00000544452.1_5'UTR|HSPA13_ENST00000478035.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	11						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGTCAAAACAGCCGATCCTGA	0.363													3	18					0	0	0	0	A	15753858	G	A	15753858	3	1	10	1	0	0	0	0	1	0	0	0	7458	971	34	4	1399	4	HSPA13	21	15753858	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	4706327	15753858	32376037	149	2656											
BID	637	broad.mit.edu	37	chr22	18222188	18222189	+	Frame_Shift_Ins	INS	-	-	T																															cggagggatgctacggtccaINStgctgtccccgacctgggcg																										TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:18222188_18222189insT	ENST00000317361.7	-	4	753_754	c.427_428insA	c.(427-429)ggafs	p.G143fs	BID_ENST00000473439.1_5'UTR|BID_ENST00000342111.5_Frame_Shift_Ins_p.D129fs|BID_ENST00000399765.1_Start_Codon_Ins|BID_ENST00000399774.3_Frame_Shift_Ins_p.G97fs|BID_ENST00000551952.1_Frame_Shift_Ins_p.G97fs|BID_ENST00000399767.1_Start_Codon_Ins	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	97					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		GCTACGGTCCATGCTGTCCCCG	0.629													23	56	---	---	---	---					T	18222189	-	T	18222188	7	5	10	1	0	1	1	0	0	0	0	0	1435	217	8	0	309	0	BID	22	18222188	Frame_Shift_Ins	INS	-	TCGA-BA-5555-01A-01D-1512-08		18222188	33082378	150	2657											
MICAL3	57553	broad.mit.edu	37	chr22	18369952	18369952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacctcctctgattgactgGtctttctcctcttcccagca	5	15	5	16	0	5	2	1	2	4	0	8	2	7	2	4	1	1	1	4	1	0	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:18369952G>A	ENST00000441493.2	-	15	2403	c.2051C>T	c.(2050-2052)aCc>aTc	p.T684I	MICAL3_ENST00000429452.1_Missense_Mutation_p.T684I|MICAL3_ENST00000444520.1_Missense_Mutation_p.T684I|MICAL3_ENST00000414725.2_Missense_Mutation_p.T684I|MICAL3_ENST00000207726.7_Missense_Mutation_p.T684I|MICAL3_ENST00000585038.1_Missense_Mutation_p.T684I|MICAL3_ENST00000400561.2_Missense_Mutation_p.T684I|MICAL3_ENST00000383094.3_Missense_Mutation_p.T684I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	684						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGATTGACTGGTCTTTCTCCT	0.433													19	48					0	0	0	0	A	18369952	G	A	18369952	3	1	10	1	0	0	0	0	1	0	0	0	9640	1261	44	4	4766	4	MICAL3	22	18369952	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	147764	18369952	32934614	151	2658											
TIMP3	7078	broad.mit.edu	37	chr22	33253268	33253268	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccaagatgccccatgtGcagtacatccatacggaagc	12	8	8	13	1	1	1	1	0	0	1	2	2	2	2	4	1	5	2	4	1	4	3			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:33253268G>C	ENST00000266085.6	+	3	538	c.237G>C	c.(235-237)gtG>gtC	p.V79V	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	79	NTR.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						TGCCCCATGTGCAGTACATCC	0.502													62	129					0	0	0	0	C	33253268	G	C	33253268	2	2	10	1	0	0	0	0	0	0	0	1	16013	1306	46	4		4	TIMP3	22	33253268	Silent	SNP	G	TCGA-BA-5555-01A-01D-1512-08	14883316	33253268	18051298	152	2659											
TTLL12	23170	broad.mit.edu	37	chr22	43575707	43575707	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagggcagcagcatgcacTtccggatcagggggtccgtc	7	6	14	14	2	1	0	1	0	0	0	4	1	3	1	3	4	3	4	3	4	0	1			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:43575707T>C	ENST00000216129.6	-	5	821	c.758A>G	c.(757-759)aAg>aGg	p.K253R		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	253					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CAGCATGCACTTCCGGATCAG	0.662													52	135					0	0	0	0	C	43575707	T	C	43575707	3	2	10	1	0	0	0	0	1	0	0	0	16821	1609	56	5	1216	5	TTLL12	22	43575707	Missense_Mutation	SNP	T	TCGA-BA-5555-01A-01D-1512-08	10322439	43575707	7728859	153	2660											
MOV10L1	54456	broad.mit.edu	37	chr22	50591608	50591608	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgggctgggagaagttGcctaagaaaggcttccctct	8	11	13	9	0	1	2	0	0	1	2	2	3	2	2	2	3	2	4	2	3	3	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:50591608G>A	ENST00000262794.5	+	22	3110	c.3027G>A	c.(3025-3027)ttG>ttA	p.L1009L	MOV10L1_ENST00000354853.2_Silent_p.L52L|MOV10L1_ENST00000395852.1_Silent_p.L136L|MOV10L1_ENST00000395858.3_Silent_p.L1009L|MOV10L1_ENST00000540615.1_Silent_p.L989L|MOV10L1_ENST00000395843.1_Silent_p.L52L|MOV10L1_ENST00000545383.1_Silent_p.L1009L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	1009					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGGAGAAGTTGCCTAAGAAAG	0.582													58	166					0	0	0	0	A	50591608	G	A	50591608	2	1	10	1	0	0	0	0	0	0	0	1	9789	1310	46	4		4	MOV10L1	22	50591608	Silent	SNP	G	TCGA-BA-5555-01A-01D-1512-08	7015901	50591608	712958	154	2661											
PLXNB2	23654	broad.mit.edu	37	chr22	50721196	50721196	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggggttttcgcggtaggtGaagaagatgccggggttggg	7	9	20	5	4	0	3	0	1	0	2	1	3	0	3	1	7	1	3	1	7	3	4			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:50721196G>C	ENST00000449103.1	-	18	3071	c.2931C>G	c.(2929-2931)ttC>ttG	p.F977L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F977L			O15031	PLXB2_HUMAN	plexin B2	977	IPT/TIG 2.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCGGTAGGTGAAGAAGATGC	0.677													7	34					0	0	0	0	C	50721196	G	C	50721196	3	2	10	1	0	0	0	0	1	0	0	0	12196	1281	45	2	2665	2	PLXNB2	22	50721196	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	129588	50721196	583370	155	2662											
ARHGAP6	395	broad.mit.edu	37	chrX	11204464	11204464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttttcctttttactttgagCctcagcaggcaaggaaagtt	9	16	8	8	0	1	1	1	1	0	0	2	2	2	2	2	2	3	3	2	2	3	7			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chrX:11204464C>A	ENST00000337414.4	-	5	2037	c.1165G>T	c.(1165-1167)Gct>Tct	p.A389S	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.A198S|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.A389S|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.A214S|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.A186S|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.A186S|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.A421S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	389					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTACTTTGAGCCTCAGCAGGC	0.463													163	103					9.35327e-79	1.2471e-78	1	0	A	11204464	C	A	11204464	3	1	10	1	0	0	0	0	1	0	0	0	889	739	26	4	1917	4	ARHGAP6	23	11204464	Missense_Mutation	SNP	C	TCGA-BA-5555-01A-01D-1512-08		11204464	144066096	156	2663											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29972680	29972680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttatcatacaccaaagtgGatcctgaccagtggaatcaa	15	9	7	10	0	2	1	2	1	0	0	3	3	3	3	3	2	1	0	3	2	5	2			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chrX:29972680G>T	ENST00000378993.1	+	10	1916	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.D415Y	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	415	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CACCAAAGTGGATCCTGACCA	0.358													48	29					3.68337e-26	4.38497e-26	1	0	T	29972680	G	T	29972680	3	4	10	1	0	0	0	0	1	0	0	0	7714	1174	41	2	1277	2	IL1RAPL1	23	29972680	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	18768216	29972680	125297880	157	2664											
CXorf22	170063	broad.mit.edu	37	chrX	36007603	36007603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacatggtttttgttttgagGgctatgaatttgttgggtat	8	19	12	2	0	0	2	0	2	0	0	0	2	0	2	0	3	1	5	0	3	4	8			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chrX:36007603G>T	ENST00000297866.5	+	16	2947	c.2881G>T	c.(2881-2883)Ggc>Tgc	p.G961C		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	961										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTGTTTTGAGGGCTATGAATT	0.328													41	31					1.59932e-28	1.9269e-28	1	0	T	36007603	G	T	36007603	3	4	10	1	0	0	0	0	1	0	0	0	4134	1232	43	4	2943	4	CXorf22	23	36007603	Missense_Mutation	SNP	G	TCGA-BA-5555-01A-01D-1512-08	6034923	36007603	119262957	158	2665											
CNR2	1269	broad.mit.edu	37	chr1	24202069	24202069	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggaatccaagccatccttGgagccattggctatctctgt	8	13	9	11	0	1	0	0	0	1	0	4	2	3	2	4	3	2	1	4	3	3	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:24202069G>C	ENST00000536471.1	-	3	297	c.39C>G	c.(37-39)tcC>tcG	p.S13S	CNR2_ENST00000374472.4_Silent_p.S13S			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	13					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	AGCCATCCTTGGAGCCATTGG	0.512													24	188					0	0	0	0	C	24202069	G	C	24202069	2	2	11	1	0	0	0	0	0	0	0	1	3662	1335	47	4		4	CNR2	1	24202069	Silent	SNP	G	TCGA-BA-5556-01A-01D-1512-08		24202069	225048552	1	2666											
THRAP3	9967	broad.mit.edu	37	chr1	36755247	36755247	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccccaagaaagacctctGagagccgagacaagctggga	13	4	11	13	1	1	4	0	1	1	4	2	7	2	5	4	1	2	1	4	1	3	0			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:36755247G>T	ENST00000354618.5	+	5	1851	c.1627G>T	c.(1627-1629)Gag>Tag	p.E543*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.E543*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	543					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAAGACCTCTGAGAGCCGAGA	0.507			T	USP6	aneurysmal bone cysts								24	198					6.12954e-19	7.31829e-19	1	0	T	36755247	G	T	36755247	4	4	11	1	0	0	0	0	0	1	0	0	15968	1291	45	2	1637	2	THRAP3	1	36755247	Nonsense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	12553178	36755247	212495374	2	2667											
PODN	127435	broad.mit.edu	37	chr1	53543413	53543413	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagctgagcagcctgcgCgagctatacctgcagaacaa	12	5	12	12	3	0	2	0	1	0	1	0	4	0	2	2	0	9	4	2	0	4	2	rs138179023		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:53543413C>T	ENST00000371500.3	+	9	1223	c.882C>T	c.(880-882)cgC>cgT	p.R294R	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.R171R|PODN_ENST00000312553.5_Silent_p.R313R	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	265					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCAGCCTGCGCGAGCTATACC	0.612													40	183					0	0	0	0	T	53543413	C	T	53543413	2	4	11	1	0	0	0	0	0	0	0	1	12250	755	27	1		1	PODN	1	53543413	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08	16788166	53543413	195707208	3	2668											
STXBP3	6814	broad.mit.edu	37	chr1	109342874	109342874	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatagattagattcaaaagaAtggccatattgttcccagtg	15	12	8	6	0	1	3	1	0	0	3	2	3	2	3	2	1	0	1	2	1	7	6			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:109342874A>G	ENST00000370008.3	+	17	1532	c.1482A>G	c.(1480-1482)gaA>gaG	p.E494E		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	494					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATTCAAAAGAATGGCCATATT	0.343													15	96					0	0	0	0	G	109342874	A	G	109342874	2	3	11	1	0	0	0	0	0	0	0	1	15444	98	4	5		5	STXBP3	1	109342874	Silent	SNP	A	TCGA-BA-5556-01A-01D-1512-08	55799461	109342874	139907747	4	2669											
APH1A	51107	broad.mit.edu	37	chr1	150240393	150240393	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaagcggaacacctccTgtagaaggacagagacagca	16	3	12	10	1	0	2	0	0	0	2	1	5	1	4	2	3	3	3	2	3	4	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:150240393T>C	ENST00000360244.4	-	2	740	c.248A>G	c.(247-249)cAg>cGg	p.Q83R	APH1A_ENST00000414276.2_Splice_Site|APH1A_ENST00000369109.3_Missense_Mutation_p.Q83R|APH1A_ENST00000461320.1_Splice_Site	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	83					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAACACCTCCTGTAGAAGGAC	0.552													22	134					0	0	0	0	C	150240393	T	C	150240393	3	2	11	1	0	0	0	0	1	0	0	0	772	1580	55	5	584	5	APH1A	1	150240393	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	40897519	150240393	99010228	5	2670											
USH2A	7399	broad.mit.edu	37	chr1	215972260	215972260	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccccttacctggaaggcgaTtgtacaccactccttcttct	7	12	7	15	1	2	0	0	0	2	0	3	2	3	1	5	2	2	1	5	2	3	5			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:215972260T>A	ENST00000366943.2	-	50	10333	c.9947A>T	c.(9946-9948)aAt>aTt	p.N3316I	USH2A_ENST00000307340.3_Missense_Mutation_p.N3316I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3316					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGAAGGCGATTGTACACCAC	0.483										HNSCC(13;0.011)			36	128					0	0	0	0	A	215972260	T	A	215972260	3	1	11	1	0	0	0	0	1	0	0	0	17132	1493	52	5	5753	5	USH2A	1	215972260	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	65731867	215972260	33278361	6	2671											
USH2A	7399	broad.mit.edu	37	chr1	216390860	216390860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgacaggtttcattcaagGctcctgagagatgacaatta	13	11	10	7	0	2	4	2	3	0	1	3	5	3	4	1	2	0	2	1	2	3	3	rs150729680	byFrequency	TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:216390860G>A	ENST00000366943.2	-	15	3412	c.3026C>T	c.(3025-3027)gCc>gTc	p.A1009V	USH2A_ENST00000366942.3_Missense_Mutation_p.A1009V|USH2A_ENST00000307340.3_Missense_Mutation_p.A1009V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1009	Laminin EGF-like 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCATTCAAGGCTCCTGAGAG	0.393										HNSCC(13;0.011)			9	52					0	0	0	0	A	216390860	G	A	216390860	3	1	11	1	0	0	0	0	1	0	0	0	17132	1203	42	4	12828	4	USH2A	1	216390860	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	418600	216390860	32859761	7	2672											
MARK1	4139	broad.mit.edu	37	chr1	220826574	220826574	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaacagctccgggagcgacGcagcgttgcttataatgggc	9	8	14	10	4	0	1	0	1	0	0	1	3	1	2	1	2	5	4	1	2	3	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:220826574G>C	ENST00000402574.1	+	16	2465	c.1463G>C	c.(1462-1464)cGc>cCc	p.R488P	MARK1_ENST00000366918.4_Missense_Mutation_p.R601P|MARK1_ENST00000366917.4_Missense_Mutation_p.R623P	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	623					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CGGGAGCGACGCAGCGTTGCT	0.532													19	127					0	0	0	0	C	220826574	G	C	220826574	3	2	11	1	0	0	0	0	1	0	0	0	9381	1087	38	3	1930	3	MARK1	1	220826574	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	4435714	220826574	28424047	8	2673											
AGT	183	broad.mit.edu	37	chr1	230845931	230845931	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagccaggccctgcacaaaCggctgcttcaggtgcaggcc	9	5	13	14	1	1	1	1	0	0	1	1	1	1	1	3	4	5	4	3	4	1	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:230845931C>T	ENST00000366667.4	-	2	880	c.666G>A	c.(664-666)ccG>ccA	p.P222P		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	222					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CCTGCACAAACGGCTGCTTCA	0.617													5	91					0	0	0	0	T	230845931	C	T	230845931	2	4	11	1	0	0	0	0	0	0	0	1	399	523	19	1		1	AGT	1	230845931	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08	10019357	230845931	18404690	9	2674											
GREM2	64388	broad.mit.edu	37	chr1	240656540	240656540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcgctcaccgtctgcCgcagcggctgcgtcttgcac	3	9	10	19	5	3	0	1	0	2	0	5	0	4	0	4	1	4	4	4	1	0	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:240656540C>T	ENST00000318160.4	-	2	502	c.236G>A	c.(235-237)cGg>cAg	p.R79Q		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	79	CTCK.				BMP signaling pathway	extracellular space	cytokine activity	p.R79P(1)		endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CACCGTCTGCCGCAGCGGCTG	0.642													4	29					0	0	0	0	T	240656540	C	T	240656540	3	4	11	1	0	0	0	0	1	0	0	0	6812	652	23	1	274	1	GREM2	1	240656540	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	9810609	240656540	8594081	10	2675											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27890212	27890212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaaagggaggccttttatAtaaaggatcccaaaaaggct	16	8	11	6	0	0	0	0	0	0	0	1	3	1	3	2	5	0	1	2	5	7	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr2:27890212A>G	ENST00000326019.6	+	3	1381	c.1099A>G	c.(1099-1101)Ata>Gta	p.I367V		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	367						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GGCCTTTTATATAAAGGATCC	0.418													26	123					0	0	0	0	G	27890212	A	G	27890212	3	3	11	1	0	0	0	0	1	0	0	0	14741	449	16	5	1109	5	SLC4A1AP	2	27890212	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08		27890212	215309161	11	2676											
SLC8A1	6546	broad.mit.edu	37	chr2	40656013	40656013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgatttccttctgggtatCaccaggcttaaacaccacag	10	12	7	12	0	3	1	1	1	2	0	4	1	4	1	3	2	1	2	3	2	3	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr2:40656013C>T	ENST00000406785.1	-	2	1597	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	SLC8A1_ENST00000408028.2_Missense_Mutation_p.D470N|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D470N|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D470N|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D470N|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D470N|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D470N|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D470N|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D470N|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D470N			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	470	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	TTCTGGGTATCACCAGGCTTA	0.408													12	106					0	0	0	0	T	40656013	C	T	40656013	3	4	11	1	0	0	0	0	1	0	0	0	14794	826	29	2	1661	2	SLC8A1	2	40656013	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	12765801	40656013	202543360	12	2677											
LRP1B	53353	broad.mit.edu	37	chr2	141027862	141027862	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctggcatgtgccaccattgTaacagtagccatcacataac	12	9	8	12	0	1	0	1	0	0	0	1	0	1	0	3	1	4	4	3	1	3	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr2:141027862T>C	ENST00000389484.3	-	86	14167	c.13196A>G	c.(13195-13197)tAc>tGc	p.Y4399C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4399	EGF-like 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Y4399F(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCACCATTGTAACAGTAGCC	0.403										TSP Lung(27;0.18)			12	132					0	0	0	0	C	141027862	T	C	141027862	3	2	11	1	0	0	0	0	1	0	0	0	9019	1638	57	5	627	5	LRP1B	2	141027862	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	100371849	141027862	102171511	13	2678											
LRP1B	53353	broad.mit.edu	37	chr2	141571360	141571360	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataaagcttgttttccacaTagtctatcgatagacctgta	13	14	6	8	1	1	1	0	0	1	1	3	2	2	1	2	0	1	3	2	0	7	8			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr2:141571360T>A	ENST00000389484.3	-	32	6196	c.5225A>T	c.(5224-5226)tAt>tTt	p.Y1742F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1742					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTTTCCACATAGTCTATCGA	0.348										TSP Lung(27;0.18)			13	109					0	0	0	0	A	141571360	T	A	141571360	3	1	11	1	0	0	0	0	1	0	0	0	9019	1406	49	5	8814	5	LRP1B	2	141571360	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	543498	141571360	101628013	14	2679											
ZC3H15	55854	broad.mit.edu	37	chr2	187364950	187364950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaattgaagaaggatgaCaagaagaaagaattgcagga	22	5	12	2	0	0	7	0	2	0	5	0	9	0	9	0	2	1	1	0	2	8	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr2:187364950C>G	ENST00000337859.6	+	3	446	c.219C>G	c.(217-219)gaC>gaG	p.D73E	AC018867.1_ENST00000396985.1_Intron|ZC3H15_ENST00000544130.1_5'UTR|ZC3H15_ENST00000468120.1_3'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	73						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			AGAAGGATGACAAGAAGAAAG	0.308													6	51					0	0	0	0	G	187364950	C	G	187364950	3	3	11	1	0	0	0	0	1	0	0	0	17662	477	17	4	229	4	ZC3H15	2	187364950	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	45793590	187364950	55834423	15	2680											
CASP8	841	broad.mit.edu	37	chr2	202149860	202149860	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatacctgttgagactgattCagaggagcaaccctatttag	12	12	9	8	0	1	3	1	2	0	2	1	5	1	4	2	1	3	2	2	1	5	7			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr2:202149860C>G	ENST00000358485.4	+	8	1497	c.1301C>G	c.(1300-1302)tCa>tGa	p.S434*	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.S360*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.S291*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.S392*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.S375*|CASP8_ENST00000392259.2_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	375					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.S392*(3)|p.S434*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAGACTGATTCAGAGGAGCAA	0.448										HNSCC(4;0.00038)			25	112					0	0	0	0	G	202149860	C	G	202149860	4	3	11	1	0	0	0	0	0	1	0	0	2702	838	29	2	1431	2	CASP8	2	202149860	Nonsense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	14784910	202149860	41049513	16	2681											
GRM7	2917	broad.mit.edu	37	chr3	7348199	7348199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggcagatccttgcagCagccaaaagagctgaccaag	14	4	10	13	0	0	3	0	1	0	2	1	3	1	3	4	1	4	4	4	1	3	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:7348199C>A	ENST00000486284.1	+	4	1167	c.893C>A	c.(892-894)gCa>gAa	p.A298E	GRM7_ENST00000389336.4_Missense_Mutation_p.A298E|GRM7_ENST00000402647.2_Missense_Mutation_p.A298E|GRM7_ENST00000403881.1_Missense_Mutation_p.A298E|GRM7_ENST00000357716.4_Missense_Mutation_p.A298E	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	298					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			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)	ATCCTTGCAGCAGCCAAAAGA	0.438													6	198					0.00198382	0.0020899	1	0	A	7348199	C	A	7348199	3	1	11	1	0	0	0	0	1	0	0	0	6852	710	25	4	907	4	GRM7	3	7348199	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08		7348199	190674231	17	2682											
ITGA9	3680	broad.mit.edu	37	chr3	37555268	37555268	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcagatgggctcttacttCggctcctccttgtgcgcagt	4	14	11	12	2	1	1	0	0	1	1	4	1	3	1	2	2	3	4	2	2	1	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:37555268C>T	ENST00000264741.5	+	9	1168	c.912C>T	c.(910-912)ttC>ttT	p.F304F	ITGA9_ENST00000422441.1_Silent_p.F304F	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	304					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GCTCTTACTTCGGCTCCTCCT	0.552													15	82					0	0	0	0	T	37555268	C	T	37555268	2	4	11	1	0	0	0	0	0	0	0	1	7936	883	31	1		1	ITGA9	3	37555268	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08	30207069	37555268	160467162	18	2683											
RBM6	10180	broad.mit.edu	37	chr3	50095359	50095359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatctgcctccttctcgaaGggaagggccaactttccgaa	9	10	10	12	2	2	0	0	0	2	0	5	3	4	1	4	2	2	1	4	2	5	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:50095359G>A	ENST00000443081.1	+	9	2415	c.1496G>A	c.(1495-1497)aGg>aAg	p.R499K	RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000422955.1_Missense_Mutation_p.R109K|RBM6_ENST00000266022.4_Missense_Mutation_p.R631K|RBM6_ENST00000442092.1_Missense_Mutation_p.R109K|RBM6_ENST00000441115.1_3'UTR			P78332	RBM6_HUMAN	RNA binding motif protein 6	631	RRM.				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCTTCTCGAAGGGAAGGGCCA	0.512													10	61					0	0	0	0	A	50095359	G	A	50095359	3	1	11	1	0	0	0	0	1	0	0	0	13226	1000	35	4	1922	4	RBM6	3	50095359	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	12540091	50095359	147927071	19	2684											
BAP1	8314	broad.mit.edu	37	chr3	52441440	52441440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggctattatgggccttggCcaactccggggcattgccaa	8	10	12	11	1	0	0	0	0	0	0	1	0	1	0	4	5	2	2	4	5	4	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:52441440C>T	ENST00000460680.1	-	6	883	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	BAP1_ENST00000296288.5_Missense_Mutation_p.A138T	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	138					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(2)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TGGGCCTTGGCCAACTCCGGG	0.517			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							5	162					0	0	0	0	T	52441440	C	T	52441440	3	4	11	1	0	0	0	0	1	0	0	0	1315	739	26	4	1825	4	BAP1	3	52441440	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	2346081	52441440	145580990	20	2685											
PLS1	5357	broad.mit.edu	37	chr3	142388320	142388320	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctggctacaaggtgcgCgagattgtggagaaaattct	10	10	13	8	2	1	2	0	0	1	2	1	4	1	2	1	3	3	1	1	3	4	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:142388320C>T	ENST00000337777.3	+	3	372	c.159C>T	c.(157-159)cgC>cgT	p.R53R	PLS1_ENST00000497002.1_Silent_p.R53R|PLS1_ENST00000457734.2_Silent_p.R53R	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	53	EF-hand 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ACAAGGTGCGCGAGATTGTGG	0.408													26	184					0	0	0	0	T	142388320	C	T	142388320	2	4	11	1	0	0	0	0	0	0	0	1	12179	755	27	1		1	PLS1	3	142388320	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08	89946880	142388320	55634110	21	2686											
ZIC4	84107	broad.mit.edu	37	chr3	147114229	147114229	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggaggcggcggtgagcTgggggccatggtgtccagag	5	6	22	8	2	0	2	0	1	0	1	1	3	1	3	2	8	1	2	2	8	0	0			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:147114229T>G	ENST00000383075.3	-	3	610	c.98A>C	c.(97-99)cAg>cCg	p.Q33P	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.Q33P|ZIC4_ENST00000425731.3_Missense_Mutation_p.Q71P|ZIC4_ENST00000525172.2_Missense_Mutation_p.Q83P|ZIC4_ENST00000473123.1_Missense_Mutation_p.Q33P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	33						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGCGGTGAGCTGGGGGCCATG	0.692													9	37					0	0	0	0	G	147114229	T	G	147114229	3	3	11	1	0	0	0	0	1	0	0	0	17776	1580	55	5	918	5	ZIC4	3	147114229	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	4725909	147114229	50908201	22	2687											
PTX3	5806	broad.mit.edu	37	chr3	157160520	157160520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttgagatggccacaggtCacattgttcctgagggagga	9	10	14	8	0	1	2	1	2	0	1	2	5	2	4	2	4	0	2	2	4	0	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:157160520C>T	ENST00000295927.3	+	3	1043	c.898C>T	c.(898-900)Cac>Tac	p.H300Y	VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	300	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGCCACAGGTCACATTGTTCC	0.532													9	83					0	0	0	0	T	157160520	C	T	157160520	3	4	11	1	0	0	0	0	1	0	0	0	12904	826	29	2	908	2	PTX3	3	157160520	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	10046291	157160520	40861910	23	2688											
SLITRK3	22865	broad.mit.edu	37	chr3	164908254	164908254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttaaaatcttaagaccaTtgaaagctccagtctgaatg	14	13	6	8	0	3	3	0	2	3	1	4	3	4	3	2	0	1	1	2	0	5	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:164908254T>C	ENST00000475390.1	-	2	808	c.365A>G	c.(364-366)aAt>aGt	p.N122S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.N122S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	122						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTTAAGACCATTGAAAGCTCC	0.348										HNSCC(40;0.11)			22	106					0	0	0	0	C	164908254	T	C	164908254	3	2	11	1	0	0	0	0	1	0	0	0	14832	1493	52	5	2572	5	SLITRK3	3	164908254	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	7747734	164908254	33114176	24	2689											
PPAT	5471	broad.mit.edu	37	chr4	57267496	57267496	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaagaaatctacttacCttcgaacatactgtctggtc	15	11	6	9	1	2	2	0	0	2	2	4	3	2	2	1	1	4	0	1	1	8	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr4:57267496C>T	ENST00000264220.2	-	7	1023	c.886_splice	c.e7+1	p.D296_splice		NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	296					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	ATCTACTTACCTTCGAACATA	0.353													19	271					0	0	0	0	T	57267496	C	T	57267496	5	4	11	1	0	0	0	0	0	0	1	0	12373	695	24	4	687	4	PPAT	4	57267496	Splice_Site	SNP	C	TCGA-BA-5556-01A-01D-1512-08		57267496	133886780	25	2690											
YTHDC1	91746	broad.mit.edu	37	chr4	69184292	69184292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaattccctcacataatcaTtgtaggactaaaataaaaga	19	10	5	7	0	2	1	2	0	0	1	3	3	3	2	1	1	0	1	1	1	7	6			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr4:69184292T>C	ENST00000344157.4	-	15	2104	c.1769A>G	c.(1768-1770)aAt>aGt	p.N590S	YTHDC1_ENST00000355665.3_Missense_Mutation_p.N572S|YTHDC1_ENST00000579690.1_Missense_Mutation_p.N598S	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	590										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CACATAATCATTGTAGGACTA	0.289													7	64					0	0	0	0	C	69184292	T	C	69184292	3	2	11	1	0	0	0	0	1	0	0	0	17592	1493	52	5	426	5	YTHDC1	4	69184292	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	11916796	69184292	121969984	26	2691											
FRAS1	80144	broad.mit.edu	37	chr4	79285132	79285132	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctcatgtgacaccaacctCgtgctgtcccacactggcac	8	9	7	17	1	1	1	1	1	0	0	4	1	3	1	4	1	2	2	4	1	1	0			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr4:79285132C>T	ENST00000264895.6	+	22	3086	c.2646C>T	c.(2644-2646)ctC>ctT	p.L882L	FRAS1_ENST00000325942.6_Silent_p.L882L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	882					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L882L(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACACCAACCTCGTGCTGTCCC	0.527													3	24					0	0	0	0	T	79285132	C	T	79285132	2	4	11	1	0	0	0	0	0	0	0	1	6089	871	31	1		1	FRAS1	4	79285132	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08	10100840	79285132	111869144	27	2692											
PPM1K	152926	broad.mit.edu	37	chr4	89192268	89192268	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggacaaaattaagcagatCtctctttccactgaagcccc	12	10	7	12	0	2	2	0	1	2	1	4	3	3	3	3	1	2	1	3	1	4	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr4:89192268C>T	ENST00000315194.4	-	4	1004	c.615G>A	c.(613-615)gaG>gaA	p.E205E	PPM1K_ENST00000513546.2_Intron|PPM1K_ENST00000506423.1_Silent_p.E205E|PPM1K_ENST00000295908.6_Intron			Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	0	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TTAAGCAGATCTCTCTTTCCA	0.517													3	43					0	0	0	0	T	89192268	C	T	89192268	2	4	11	1	0	0	0	0	0	0	0	1	12419	928	32	2		2	PPM1K	4	89192268	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08	9907136	89192268	101962008	28	2693											
HERC3	8916	broad.mit.edu	37	chr4	89591032	89591032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactggtggtctcaggtatGcccgaaatatttcatgaagc	11	12	10	8	1	2	1	2	1	1	0	3	2	2	1	1	3	3	1	1	3	5	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr4:89591032G>A	ENST00000402738.1	+	15	1894	c.1655G>A	c.(1654-1656)tGc>tAc	p.C552Y	HERC3_ENST00000543130.1_5'UTR|HERC3_ENST00000264345.3_Missense_Mutation_p.C552Y	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	552					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TCTCAGGTATGCCCGAAATAT	0.363													20	137					0	0	0	0	A	89591032	G	A	89591032	3	1	11	1	0	0	0	0	1	0	0	0	7109	1319	46	4	1705	4	HERC3	4	89591032	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	398764	89591032	101563244	29	2694											
PAPSS1	9061	broad.mit.edu	37	chr4	108608212	108608212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctttaatttctcctgccCgggcttttttgtagagtcct	5	17	8	11	1	1	1	0	0	1	1	3	2	2	1	4	1	1	2	4	1	2	7			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr4:108608212C>T	ENST00000265174.4	-	4	805	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	178					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TTCTCCTGCCCGGGCTTTTTT	0.363													11	238					0	0	0	0	T	108608212	C	T	108608212	3	4	11	1	0	0	0	0	1	0	0	0	11505	652	23	1	1377	1	PAPSS1	4	108608212	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	19017180	108608212	82546064	30	2695											
PPIP5K2	23262	broad.mit.edu	37	chr5	102487035	102487035	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatggcttcagttttgtgAaaaattccatgaagtattat	13	16	7	5	0	2	2	2	2	0	0	3	2	3	2	1	1	0	3	1	1	6	6			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr5:102487035A>T	ENST00000321521.9	+	9	1558	c.985A>T	c.(985-987)Aaa>Taa	p.K329*	PPIP5K2_ENST00000414217.1_Nonsense_Mutation_p.K329*|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Nonsense_Mutation_p.K329*			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	329					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGTTTTGTGAAAAATTCCAT	0.308													31	131					0	0	0	0	T	102487035	A	T	102487035	4	4	11	1	0	0	0	0	0	1	0	0	12409	247	9	5	1015	5	PPIP5K2	5	102487035	Nonsense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08		102487035	78428225	31	2696											
C5orf15	56951	broad.mit.edu	37	chr5	133295208	133295208	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgttgtgatatgtaaTgtaaacaacagcaatgcaaa	15	13	7	6	0	0	1	0	1	0	0	0	1	0	1	1	0	4	5	1	0	7	6			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr5:133295208T>C	ENST00000231512.3	-	2	845	c.643A>G	c.(643-645)Att>Gtt	p.I215V		NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	215						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TGATATGTAATGTAAACAACA	0.294													12	68					0	0	0	0	C	133295208	T	C	133295208	3	2	11	1	0	0	0	0	1	0	0	0	2304	1464	51	5	162	5	C5orf15	5	133295208	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	30808173	133295208	47620052	32	2697											
HARS2	23438	broad.mit.edu	37	chr5	140073602	140073602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagctgctttaaacgtcatgGagcaaaggggatggacaccc	12	7	12	10	1	1	0	1	0	0	0	1	3	1	3	1	4	4	3	1	4	3	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr5:140073602G>A	ENST00000230771.3	+	3	489	c.266G>A	c.(265-267)gGa>gAa	p.G89E	HARS2_ENST00000448069.2_Intron|HARS2_ENST00000502303.1_3'UTR|HARS2_ENST00000432671.2_Intron|HARS2_ENST00000508522.1_Missense_Mutation_p.G64E|HARS2_ENST00000435019.2_Intron|HARS2_ENST00000437649.2_Missense_Mutation_p.G89E	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	89					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACGTCATGGAGCAAAGGGG	0.478													59	245					0	0	0	0	A	140073602	G	A	140073602	3	1	11	1	0	0	0	0	1	0	0	0	7010	1174	41	2	276	2	HARS2	5	140073602	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	6778394	140073602	40841658	33	2698											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798230	140798230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagagtgaaggccactgaCcaggacgagggcatcaactc	12	5	13	11	1	1	3	1	3	0	1	2	6	1	4	2	3	1	1	2	3	2	0			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr5:140798230C>A	ENST00000398594.2	+	1	804	c.804C>A	c.(802-804)gaC>gaA	p.D268E	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCACTGACCAGGACGAGG	0.532													13	68					0.000151284	0.000161098	1	0	A	140798230	C	A	140798230	3	1	11	1	0	0	0	0	1	0	0	0	11639	506	18	4	806	4	PCDHGB7	5	140798230	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	724628	140798230	40117030	34	2699											
CRISP2	7180	broad.mit.edu	37	chr6	49667570	49667570	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgcacttgtttgcccacCtttgggcattcgttgttacc	6	15	9	11	1	0	0	0	0	0	0	1	0	0	0	3	1	3	5	3	1	2	6			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr6:49667570C>G	ENST00000339139.4	-	6	454	c.218G>C	c.(217-219)aGg>aCg	p.R73T		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	73						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GTTTGCCCACCTTTGGGCATT	0.333													12	78					0	0	0	0	G	49667570	C	G	49667570	3	3	11	1	0	0	0	0	1	0	0	0	3910	681	24	4	533	4	CRISP2	6	49667570	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08		49667570	121447497	35	2700											
MICAL1	64780	broad.mit.edu	37	chr6	109766112	109766112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccttacgtgatcatgagctCggcctcctcagccaccaggc	7	8	9	17	2	2	2	2	2	0	0	4	2	3	2	5	2	3	1	5	2	1	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr6:109766112C>T	ENST00000368952.4	-	23	3315	c.3025G>A	c.(3025-3027)Gag>Aag	p.E1009K	MICAL1_ENST00000358807.3_Missense_Mutation_p.E990K|MICAL1_ENST00000358577.3_Missense_Mutation_p.E904K			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	990					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ATCATGAGCTCGGCCTCCTCA	0.552													5	242					0	0	0	0	T	109766112	C	T	109766112	3	4	11	1	0	0	0	0	1	0	0	0	9638	893	31	1	247	1	MICAL1	6	109766112	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	60098542	109766112	61348955	36	2701											
SOD2	6648	broad.mit.edu	37	chr6	160106063	160106063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgatggcttccagcaactCccctattaaaaaaaaaatcc	15	11	4	11	0	0	1	0	1	0	0	3	1	3	1	4	1	2	2	4	1	7	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr6:160106063C>T	ENST00000538183.1	-	4	506	c.346G>A	c.(346-348)Gag>Aag	p.E116K	SOD2_ENST00000337404.4_Missense_Mutation_p.E77K|SOD2_ENST00000367055.4_Missense_Mutation_p.E116K|SOD2_ENST00000367054.2_Missense_Mutation_p.E77K|SOD2_ENST00000444946.2_Intron|SOD2_ENST00000546087.1_Missense_Mutation_p.E70K	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	116					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		TCCAGCAACTCCCCTATTAAA	0.373													7	49					0	0	0	0	T	160106063	C	T	160106063	3	4	11	1	0	0	0	0	1	0	0	0	15009	864	30	2	330	2	SOD2	6	160106063	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	50339951	160106063	11009004	37	2702											
EIF3B	8662	broad.mit.edu	37	chr7	2409152	2409152	+	Silent	SNP	G	G	T																															aacataatcgccttctgggtGcctgaagacaaagatattcc																										TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:2409152G>T	ENST00000360876.4	+	10	1505	c.1449G>T	c.(1447-1449)gtG>gtT	p.V483V	EIF3B_ENST00000397011.2_Silent_p.V483V	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	483					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CCTTCTGGGTGCCTGAAGACA	0.473													48	338					1.72184e-34	2.09384e-34	1	0	T	2409152	G	T	2409152	2	4	11	1	0	0	0	0	0	0	0	1	5049	1306	46	4		4	EIF3B	7	2409152	Silent	SNP	G	TCGA-BA-5556-01A-01D-1512-08		2409152	156729511	38	2703	32	2									
EIF3B	8662	broad.mit.edu	37	chr7	2409153	2409153	+	Missense_Mutation	SNP	C	C	T																															acataatcgccttctgggtgCctgaagacaaagatattcca																										TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:2409153C>T	ENST00000360876.4	+	10	1506	c.1450C>T	c.(1450-1452)Cct>Tct	p.P484S	EIF3B_ENST00000397011.2_Missense_Mutation_p.P484S	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	484					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CTTCTGGGTGCCTGAAGACAA	0.473													46	340					0	0	0	0	T	2409153	C	T	2409153	3	4	11	1	0	0	0	0	1	0	0	0	5049	739	26	4	1488	4	EIF3B	7	2409153	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	1	2409153	156729510	39	2704	32	2									
SEMA3A	10371	broad.mit.edu	37	chr7	83606507	83606507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttatatcttgtcgtcttGtgcgtctgaagcaattacat	8	18	7	8	2	4	1	0	1	4	0	5	1	4	1	0	0	3	1	0	0	5	6			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:83606507G>A	ENST00000265362.3	-	15	1972	c.1658C>T	c.(1657-1659)aCa>aTa	p.T553I	SEMA3A_ENST00000436949.1_Missense_Mutation_p.T553I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	553					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTGTCGTCTTGTGCGTCTGAA	0.343													18	120					0	0	0	0	A	83606507	G	A	83606507	3	1	11	1	0	0	0	0	1	0	0	0	14111	1377	48	4	669	4	SEMA3A	7	83606507	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	81197354	83606507	75532156	40	2705											
MUC17	140453	broad.mit.edu	37	chr7	100679879	100679879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccacttctactgaagccCgttcatctcctacaacttct	9	13	4	15	1	4	2	1	2	3	0	5	2	4	2	3	0	4	1	3	0	4	5	rs71273404		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:100679879C>T	ENST00000306151.4	+	3	5246	c.5182C>T	c.(5182-5184)Cgt>Tgt	p.R1728C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1728	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACTGAAGCCCGTTCATCTCC	0.498													58	353					0	0	0	0	T	100679879	C	T	100679879	3	4	11	1	0	0	0	0	1	0	0	0	10044	652	23	1	5192	1	MUC17	7	100679879	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	17073372	100679879	58458784	41	2706											
MUC17	140453	broad.mit.edu	37	chr7	100683048	100683048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcatacctgtcaccaCttctactgaagccagttcct	10	10	5	16	0	2	1	1	1	1	0	3	1	3	1	5	0	4	2	5	0	3	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:100683048C>A	ENST00000306151.4	+	3	8415	c.8351C>A	c.(8350-8352)aCt>aAt	p.T2784N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2784	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTCACCACTTCTACTGAA	0.478													9	340					2.17888e-05	2.34557e-05	1	0	A	100683048	C	A	100683048	3	1	11	1	0	0	0	0	1	0	0	0	10044	565	20	4	8361	4	MUC17	7	100683048	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	3169	100683048	58455615	42	2707											
MUC17	140453	broad.mit.edu	37	chr7	100686329	100686329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaagcactccattaacaActctccttgtcagcaccaca	15	8	4	14	0	2	1	1	0	1	1	4	1	3	1	3	0	4	2	3	0	4	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:100686329A>G	ENST00000306151.4	+	3	11696	c.11632A>G	c.(11632-11634)Act>Gct	p.T3878A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3878						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCATTAACAACTCTCCTTGT	0.468													38	185					0	0	0	0	G	100686329	A	G	100686329	3	3	11	1	0	0	0	0	1	0	0	0	10044	43	2	5	11642	5	MUC17	7	100686329	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08	3281	100686329	58452334	43	2708											
MOGAT3	346606	broad.mit.edu	37	chr7	100843751	100843751	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaacagagaagggccagAgtgacgtgaagaggaggaca	19	2	15	5	1	0	5	0	2	0	3	0	8	0	7	1	3	1	0	1	3	5	0			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:100843751A>T	ENST00000223114.4	-	2	321	c.155T>A	c.(154-156)cTc>cAc	p.L52H	MOGAT3_ENST00000379423.3_Missense_Mutation_p.L52H|MOGAT3_ENST00000440203.2_Missense_Mutation_p.L52H	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	52					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GAAGGGCCAGAGTGACGTGAA	0.527													7	27					0	0	0	0	T	100843751	A	T	100843751	3	4	11	1	0	0	0	0	1	0	0	0	9766	304	11	5	894	5	MOGAT3	7	100843751	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08	157422	100843751	58294912	44	2709											
LRRN3	54674	broad.mit.edu	37	chr7	110762919	110762919	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaaagtggattgtccaCggttatgtacgtgtgaaatc	14	12	10	5	2	0	1	0	1	0	0	2	2	1	2	1	2	1	2	1	2	6	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:110762919C>A	ENST00000451085.1	+	4	1137	c.91C>A	c.(91-93)Cgg>Agg	p.R31R	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Silent_p.R31R|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Silent_p.R31R|IMMP2L_ENST00000437687.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	31	LRRNT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGATTGTCCACGGTTATGTAC	0.408													21	148					2.37509e-13	2.75231e-13	1	0	A	110762919	C	A	110762919	2	1	11	1	0	0	0	0	0	0	0	1	9100	527	19	3		3	LRRN3	7	110762919	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08	9919168	110762919	48375744	45	2710											
NRF1	4899	broad.mit.edu	37	chr7	129297354	129297354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggacacctcttacgatGactcagatatactcaactcc	12	9	6	14	2	3	2	2	1	1	1	4	5	4	3	3	1	3	0	3	1	4	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:129297354G>T	ENST00000393232.1	+	2	280	c.163G>T	c.(163-165)Gac>Tac	p.D55Y	NRF1_ENST00000539636.1_5'UTR|NRF1_ENST00000223190.4_Missense_Mutation_p.D55Y|NRF1_ENST00000393231.3_Missense_Mutation_p.D55Y|NRF1_ENST00000393230.2_Missense_Mutation_p.D55Y|NRF1_ENST00000311967.2_Missense_Mutation_p.D55Y|NRF1_ENST00000353868.4_Missense_Mutation_p.D55Y	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	55	Asp/Glu-rich (acidic).|Dimerization.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CTCTTACGATGACTCAGATAT	0.478													9	124					4.68919e-08	5.21904e-08	1	0	T	129297354	G	T	129297354	3	4	11	1	0	0	0	0	1	0	0	0	10717	1290	45	2	165	2	NRF1	7	129297354	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	18534435	129297354	29841309	46	2711											
XKR5	389610	broad.mit.edu	37	chr8	6673269	6673270	+	RNA	INS	-	-	A																															ctaccctttgagcccattgtINSaaaaaaaaaaaatacgttgg																								rs112269595		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:6673269_6673270insA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GAGCCCATTGTAAAAAAAAAAA	0.505											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	3	---	---	---	---					A	6673270	-	A	6673269	6	5	11	0	1	1	1	0	0	0	0	0	17530	1653	57	0		0	XKR5	8	6673269	RNA	INS	-	TCGA-BA-5556-01A-01D-1512-08		6673269	139690753	47	2712											
ST18	9705	broad.mit.edu	37	chr8	53055550	53055550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtttagggcttggtatagagGcctctccaggaaactttttt	8	15	11	7	0	1	1	0	0	1	1	2	2	1	2	2	4	1	3	2	4	4	8			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:53055550G>A	ENST00000276480.7	-	17	2791	c.2108C>T	c.(2107-2109)gCc>gTc	p.A703V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	703						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGTATAGAGGCCTCTCCAGG	0.418													25	193					0	0	0	0	A	53055550	G	A	53055550	3	1	11	1	0	0	0	0	1	0	0	0	15302	1203	42	4	1075	4	ST18	8	53055550	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	46382281	53055550	93308472	48	2713											
ATP6V1H	51606	broad.mit.edu	37	chr8	54730074	54730074	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catagtcaaagaaaatgctaAcacgctgatgattttcctaa	16	11	6	8	1	1	3	1	2	0	1	2	3	2	3	1	0	2	2	1	0	6	5			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:54730074A>G	ENST00000355221.3	-	5	882	c.323T>C	c.(322-324)gTt>gCt	p.V108A	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.V108A|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.V108A|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.V68A	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	108					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GAAAATGCTAACACGCTGATG	0.413													13	51					0	0	0	0	G	54730074	A	G	54730074	3	3	11	1	0	0	0	0	1	0	0	0	1193	43	2	5	1168	5	ATP6V1H	8	54730074	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08	1674524	54730074	91633948	49	2714											
RALYL	138046	broad.mit.edu	37	chr8	85774590	85774590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtaattccgctgaagcGtcccagagtggcagtcacaa	11	8	11	11	2	1	2	1	1	0	1	3	2	3	2	2	1	2	4	2	1	3	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:85774590G>A	ENST00000521268.1	+	6	1578	c.473G>A	c.(472-474)cGt>cAt	p.R158H	RALYL_ENST00000521695.1_Missense_Mutation_p.R158H|RALYL_ENST00000518566.1_Missense_Mutation_p.R147H|RALYL_ENST00000523850.1_Missense_Mutation_p.R85H|RALYL_ENST00000517638.1_Missense_Mutation_p.R171H|RALYL_ENST00000522455.1_Missense_Mutation_p.R158H|RALYL_ENST00000521376.1_Missense_Mutation_p.R69H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	158							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCGCTGAAGCGTCCCAGAGTG	0.507													7	38					0	0	0	0	A	85774590	G	A	85774590	3	1	11	1	0	0	0	0	1	0	0	0	13102	1145	40	1	534	1	RALYL	8	85774590	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	31044516	85774590	60589432	50	2715											
WWP1	11059	broad.mit.edu	37	chr8	87470164	87470165	+	Frame_Shift_Ins	INS	-	-	A																															cccaggttatgttgtgtggcINSatgcaggaggttgacttggc																										TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:87470164_87470165insA	ENST00000517970.1	+	22	2716_2717	c.2409_2410insA	c.(2407-2412)ggtgcafs	p.A804fs	WWP1_ENST00000341922.2_Frame_Shift_Ins_p.A674fs|WWP1_ENST00000349423.2_Frame_Shift_Ins_p.A586fs|WWP1_ENST00000265428.4_Frame_Shift_Ins_p.A804fs	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	804	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTTGTGTGGCATGCAGGAGGT	0.376													32	194	---	---	---	---					A	87470165	-	A	87470164	7	5	11	1	0	1	1	0	0	0	0	0	17511	697	25	0	2487	0	WWP1	8	87470164	Frame_Shift_Ins	INS	-	TCGA-BA-5556-01A-01D-1512-08	1695574	87470164	58893858	51	2716											
VPS13B	157680	broad.mit.edu	37	chr8	100523369	100523369	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggcactcatcagcagcAtggattcctctctctgacat	10	11	8	12	0	4	2	2	1	2	1	6	3	5	3	1	2	2	3	1	2	0	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:100523369A>T	ENST00000358544.2	+	29	4448	c.4337A>T	c.(4336-4338)cAt>cTt	p.H1446L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.H1421L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1446					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CATCAGCAGCATGGATTCCTC	0.333													37	161					0	0	0	0	T	100523369	A	T	100523369	3	4	11	1	0	0	0	0	1	0	0	0	17286	217	8	5	4641	5	VPS13B	8	100523369	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08	13053205	100523369	45840653	52	2717											
DCAF13	25879	broad.mit.edu	37	chr8	104432504	104432504	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttcagttccaagaaactAtgatcctgctttacatcctt	11	16	4	10	0	1	2	1	1	0	1	4	2	4	2	3	0	3	2	3	0	5	7			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:104432504A>G	ENST00000297579.5	+	2	816	c.539A>G	c.(538-540)tAt>tGt	p.Y180C	DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000521971.1_Missense_Mutation_p.Y24C|DCAF13_ENST00000521716.1_Missense_Mutation_p.Y24C|DCAF13_ENST00000519682.1_Missense_Mutation_p.Y24C	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	28					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCAAGAAACTATGATCCTGCT	0.358													17	107					0	0	0	0	G	104432504	A	G	104432504	3	3	11	1	0	0	0	0	1	0	0	0	4299	449	16	5	545	5	DCAF13	8	104432504	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08	3909135	104432504	41931518	53	2718											
FAM91A1	157769	broad.mit.edu	37	chr8	124796733	124796733	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacctcttgaaggttttgtaAtgaatcgagtgcaaggtgat	11	13	11	6	1	1	3	0	3	1	0	2	4	1	3	1	2	1	3	1	2	4	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:124796733A>G	ENST00000334705.7	+	9	973	c.727A>G	c.(727-729)Atg>Gtg	p.M243V	FAM91A1_ENST00000521166.1_Missense_Mutation_p.M243V	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	243										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AGGTTTTGTAATGAATCGAGT	0.308													5	115					0	0	0	0	G	124796733	A	G	124796733	3	3	11	1	0	0	0	0	1	0	0	0	5696	101	4	5	761	5	FAM91A1	8	124796733	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08	20364229	124796733	21567289	54	2719											
PHF20L1	51105	broad.mit.edu	37	chr8	133851650	133851650	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtcagaggtggagtgcaaAatatcgttatgataaggagt	14	10	14	3	1	1	2	1	1	0	1	2	4	1	4	0	4	1	2	0	4	5	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:133851650A>T	ENST00000395386.2	+	18	2509	c.2210A>T	c.(2209-2211)aAa>aTa	p.K737I	PHF20L1_ENST00000220847.7_Missense_Mutation_p.K124I|PHF20L1_ENST00000395390.2_Missense_Mutation_p.K712I|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	737							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGGAGTGCAAAATATCGTTAT	0.373													7	154					0	0	0	0	T	133851650	A	T	133851650	3	4	11	1	0	0	0	0	1	0	0	0	11904	14	1	5	2372	5	PHF20L1	8	133851650	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08	9054917	133851650	12512372	55	2720											
COL22A1	169044	broad.mit.edu	37	chr8	139601676	139601676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagcatagccaggttccccGggttgacctggcccaaggag	8	8	13	12	1	0	1	0	1	0	0	1	2	1	2	5	4	2	3	5	4	3	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:139601676G>A	ENST00000303045.6	-	65	5147	c.4701C>T	c.(4699-4701)ccC>ccT	p.P1567P	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.P1547P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1567	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGGTTCCCCGGGTTGACCTG	0.577										HNSCC(7;0.00092)			3	26					0	0	0	0	A	139601676	G	A	139601676	2	1	11	1	0	0	0	0	0	0	0	1	3711	1103	39	1		1	COL22A1	8	139601676	Silent	SNP	G	TCGA-BA-5556-01A-01D-1512-08	5750026	139601676	6762346	56	2721											
FREM1	158326	broad.mit.edu	37	chr9	14801743	14801743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagagaagtctttgctaaAccccctatcgatgaggaggc	11	9	10	11	1	2	2	1	1	1	1	3	5	2	3	2	2	2	1	2	2	4	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:14801743A>G	ENST00000380881.4	-	21	4419	c.3604T>C	c.(3604-3606)Ttt>Ctt	p.F1202L	FREM1_ENST00000422223.2_Missense_Mutation_p.F1201L|FREM1_ENST00000380880.3_Missense_Mutation_p.F1201L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1201			S -> R (in dbSNP:rs16932300).		cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTTTGCTAAACCCCCTATCG	0.522													12	129					0	0	0	0	G	14801743	A	G	14801743	3	3	11	1	0	0	0	0	1	0	0	0	6092	43	2	5	3060	5	FREM1	9	14801743	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08		14801743	126411688	57	2722											
KIF24	347240	broad.mit.edu	37	chr9	34255735	34255735	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagtgtccaacttactgCgcttgctccagggtgggctg	7	10	14	10	1	0	0	0	0	0	0	2	1	2	1	2	3	4	3	2	3	3	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:34255735C>T	ENST00000379166.2	-	11	3989	c.3870G>A	c.(3868-3870)gcG>gcA	p.A1290A	KIF24_ENST00000345050.2_Silent_p.A1156A|KIF24_ENST00000379174.3_Silent_p.A1156A|KIF24_ENST00000402558.2_Silent_p.A1290A	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1290					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CAACTTACTGCGCTTGCTCCA	0.567											OREG0019148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	38					0	0	0	0	T	34255735	C	T	34255735	2	4	11	1	0	0	0	0	0	0	0	1	8343	755	27	1		1	KIF24	9	34255735	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08	19453992	34255735	106957696	58	2723											
KIF24	347240	broad.mit.edu	37	chr9	34263141	34263141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggagtatgggtgtgttcCtgatccagtgctcggataca	9	11	14	7	1	0	1	0	1	0	0	3	3	2	3	2	3	2	3	2	3	3	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:34263141C>A	ENST00000379166.2	-	9	1592	c.1473G>T	c.(1471-1473)caG>caT	p.Q491H	KIF24_ENST00000345050.2_Missense_Mutation_p.Q357H|KIF24_ENST00000379174.3_Missense_Mutation_p.Q357H|KIF24_ENST00000402558.2_Missense_Mutation_p.Q491H	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	491					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GGGTGTGTTCCTGATCCAGTG	0.448													4	61					0.014758	0.0151423	1	0	A	34263141	C	A	34263141	3	1	11	1	0	0	0	0	1	0	0	0	8343	680	24	4	2653	4	KIF24	9	34263141	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	7406	34263141	106950290	59	2724											
WNK2	65268	broad.mit.edu	37	chr9	95993222	95993222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttctccgcagctggtgcCggcagatcctgaagggcctg	6	8	15	12	2	1	2	0	1	1	1	3	2	2	2	4	4	2	4	4	4	1	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:95993222C>T	ENST00000297954.4	+	3	907	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	WNK2_ENST00000395475.2_Missense_Mutation_p.R289W|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.R303W			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	303	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CAGCTGGTGCCGGCAGATCCT	0.587													25	77					0	0	0	0	T	95993222	C	T	95993222	3	4	11	1	0	0	0	0	1	0	0	0	17474	643	23	1	917	1	WNK2	9	95993222	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	61730081	95993222	45220209	60	2725											
STXBP1	6812	broad.mit.edu	37	chr9	130446647	130446647	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcctctgttctcccacagGttctactcacattcttactc	6	15	5	15	0	5	0	1	0	4	0	7	0	5	0	2	2	2	2	2	2	2	5			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:130446647G>A	ENST00000373302.3	+	19	1842	c.1702_splice	c.e19-1	p.G568_splice	STXBP1_ENST00000481942.1_Intron|STXBP1_ENST00000373299.1_Intron	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	568					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	p.G568V(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCTCCCACAGGTTCTACTCAC	0.483													14	51					0	0	0	0	A	130446647	G	A	130446647	5	1	11	1	0	0	0	0	0	0	1	0	15442	1275	44	4	1777	4	STXBP1	9	130446647	Splice_Site	SNP	G	TCGA-BA-5556-01A-01D-1512-08	34453425	130446647	10766784	61	2726											
GPR107	57720	broad.mit.edu	37	chr9	132854651	132854651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctggattcatatccttcGaaaacgacggtaaactattt	13	13	6	9	3	2	0	1	0	1	0	4	3	3	1	1	2	2	1	1	2	6	6			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:132854651G>A	ENST00000372406.1	+	9	1361	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	GPR107_ENST00000347136.6_Missense_Mutation_p.R285Q|GPR107_ENST00000372410.3_Missense_Mutation_p.R285Q	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	285						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CATATCCTTCGAAAACGACGG	0.423													62	170					0	0	0	0	A	132854651	G	A	132854651	3	1	11	1	0	0	0	0	1	0	0	0	6672	1058	37	1	888	1	GPR107	9	132854651	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	2408004	132854651	8358780	62	2727											
TPRN	286262	broad.mit.edu	37	chr9	140087090	140087090	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctctagggagctctcGgaagggtactcaaatgtggt	8	11	13	9	1	3	0	1	0	2	0	5	2	4	2	1	4	3	3	1	4	4	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:140087090G>A	ENST00000409012.4	-	2	1865	c.1779C>T	c.(1777-1779)tcC>tcT	p.S593S	TPRN_ENST00000321773.2_Silent_p.S532S	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	593	Glu-rich.				sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GGGAGCTCTCGGAAGGGTACT	0.582													5	91					0	0	0	0	A	140087090	G	A	140087090	2	1	11	1	0	0	0	0	0	0	0	1	16516	1103	39	1		1	TPRN	9	140087090	Silent	SNP	G	TCGA-BA-5556-01A-01D-1512-08	7232439	140087090	1126341	63	2728											
GATA3	2625	broad.mit.edu	37	chr10	8100579	8100579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacgagaaagagtgcctcAagtaccaggtgcccctgccc	11	5	12	13	1	1	2	1	0	0	2	1	4	1	3	5	2	4	1	5	2	3	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr10:8100579A>G	ENST00000379328.3	+	3	1121	c.553A>G	c.(553-555)Aag>Gag	p.K185E	GATA3_ENST00000346208.3_Missense_Mutation_p.K185E|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	185					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGAGTGCCTCAAGTACCAGGT	0.701			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						11	97					0	0	0	0	G	8100579	A	G	8100579	3	3	11	1	0	0	0	0	1	0	0	0	6304	131	5	5	559	5	GATA3	10	8100579	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08		8100579	127434168	64	2729											
ANKRD30A	91074	broad.mit.edu	37	chr10	37430782	37430782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacctgacacggctgaaagCttggtggaaaaaacacctga	15	6	10	10	1	0	3	0	3	0	0	0	4	0	4	2	3	2	2	2	3	4	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr10:37430782C>A	ENST00000374660.1	+	7	888	c.789C>A	c.(787-789)agC>agA	p.S263R	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S263R|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S263R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	319						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CGGCTGAAAGCTTGGTGGAAA	0.483													8	64					0.000274275	0.000290496	1	0	A	37430782	C	A	37430782	3	1	11	1	0	0	0	0	1	0	0	0	658	796	28	4	815	4	ANKRD30A	10	37430782	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	29330203	37430782	98103965	65	2730											
EXOSC1	51013	broad.mit.edu	37	chr10	99196219	99196219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttaggtctgcaagaattCgggttgtactcgggctactt	7	15	11	8	2	2	1	0	0	2	1	4	1	2	1	0	3	3	4	0	3	5	7			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr10:99196219C>T	ENST00000370902.3	-	8	602	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	EXOSC1_ENST00000370886.5_Missense_Mutation_p.E174K|EXOSC1_ENST00000370885.4_Missense_Mutation_p.E166K|EXOSC1_ENST00000485122.2_3'UTR	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	191					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		TGCAAGAATTCGGGTTGTACT	0.478													17	174					0	0	0	0	T	99196219	C	T	99196219	3	4	11	1	0	0	0	0	1	0	0	0	5350	893	31	1	20	1	EXOSC1	10	99196219	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	61765437	99196219	36338528	66	2731											
HRAS	3265	broad.mit.edu	37	chr11	534286	534286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcactcttgcccacacCgccggcgcccaccaccacca	8	3	7	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	1	7	1	0	1	rs104894228		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:534286C>G	ENST00000417302.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			8	28					0	0	0	0	G	534286	C	G	534286	3	3	11	1	0	0	0	0	1	0	0	0	7398	652	23	3	615	3	HRAS	11	534286	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08		534286	134472230	67	2732											
MUC2	4583	broad.mit.edu	37	chr11	1087951	1087951	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatgtgggaaccggagcttCgagacctgcaggaccatcaa	11	6	12	12	2	1	1	1	0	0	1	2	5	1	4	4	3	3	2	4	3	2	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:1087951C>T	ENST00000441003.2	+	25	3453	c.3426C>T	c.(3424-3426)ttC>ttT	p.F1142F	MUC2_ENST00000359061.5_Silent_p.F1142F	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1142						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCGGAGCTTCGAGACCTGCA	0.612													3	18					0	0	0	0	T	1087951	C	T	1087951	2	4	11	1	0	0	0	0	0	0	0	1	10045	883	31	1		1	MUC2	11	1087951	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08	553665	1087951	133918565	68	2733											
PGAP2	27315	broad.mit.edu	37	chr11	3845337	3845337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctcgcgttgctagtgctCacttatgtctcctcctccga	6	13	7	15	3	2	0	1	0	1	0	6	1	4	0	4	0	3	3	4	0	3	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:3845337C>T	ENST00000396993.4	+	3	328	c.250C>T	c.(250-252)Cac>Tac	p.H84Y	PGAP2_ENST00000300730.6_Silent_p.L187L|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000463452.2_Silent_p.L130L|PGAP2_ENST00000465307.2_Missense_Mutation_p.H134Y|PGAP2_ENST00000278243.4_Silent_p.L191L|PGAP2_ENST00000396986.2_Silent_p.L187L|PGAP2_ENST00000396991.2_Silent_p.L191L|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000493547.2_Silent_p.L130L			Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	0					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						TGCTAGTGCTCACTTATGTCT	0.612													6	38					0	0	0	0	T	3845337	C	T	3845337	3	4	11	1	0	0	0	0	1	0	0	0	11850	826	29	2	762	2	PGAP2	11	3845337	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	2757386	3845337	131161179	69	2734											
ANO5	203859	broad.mit.edu	37	chr11	22249037	22249037	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgaagtatccccatcctGaatattttactgcacaattc	11	14	6	10	0	0	2	0	2	0	0	3	2	2	2	3	0	2	2	3	0	6	5	rs140381407		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:22249037G>T	ENST00000324559.8	+	7	870	c.553G>T	c.(553-555)Gaa>Taa	p.E185*		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	185						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCCCATCCTGAATATTTTAC	0.463													18	164					8.00594e-06	8.71365e-06	1	0	T	22249037	G	T	22249037	4	4	11	1	0	0	0	0	0	1	0	0	699	1291	45	2	579	2	ANO5	11	22249037	Nonsense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	18403700	22249037	112757479	70	2735											
PAMR1	25891	broad.mit.edu	37	chr11	35463155	35463155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccaattttagcatggcGtccgttgataagcccagggc	8	10	13	10	2	0	1	0	1	0	0	1	1	1	1	3	3	3	2	3	3	3	4	rs149018193		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:35463155G>A	ENST00000378880.2	-	7	1352	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	PAMR1_ENST00000378878.3_Missense_Mutation_p.R192C|PAMR1_ENST00000278360.3_Missense_Mutation_p.R320C|PAMR1_ENST00000532848.1_Missense_Mutation_p.R263C	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	303	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTAGCATGGCGTCCGTTGATA	0.468													50	178					0	0	0	0	A	35463155	G	A	35463155	3	1	11	1	0	0	0	0	1	0	0	0	11484	1145	40	1	1275	1	PAMR1	11	35463155	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	13214118	35463155	99543361	71	2736											
MADD	8567	broad.mit.edu	37	chr11	47330541	47330541	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaattggcaggaagggacaaAggatccatgtgggaccagtt	14	7	14	6	0	0	0	0	0	0	0	1	4	1	4	2	5	0	2	2	5	3	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:47330541A>G	ENST00000311027.5	+	26	4044	c.3879A>G	c.(3877-3879)aaA>aaG	p.K1293K	MADD_ENST00000407859.3_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000405573.2_Silent_p.K103K|MADD_ENST00000402799.1_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000395336.3_Silent_p.K1293K|MADD_ENST00000349238.3_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000395344.3_Intron	NM_003682.3	NP_003673.3	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1293					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GAAGGGACAAAGGATCCATGT	0.458													36	172					0	0	0	0	G	47330541	A	G	47330541	2	3	11	1	0	0	0	0	0	0	0	1	9217	69	3	5		5	MADD	11	47330541	Silent	SNP	A	TCGA-BA-5556-01A-01D-1512-08	11867386	47330541	87675975	72	2737											
OR8J3	81168	broad.mit.edu	37	chr11	55904306	55904306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctttaaggcaacatttaCatcattattcctcaggctgt	10	17	5	9	0	3	0	2	0	1	0	4	0	4	0	1	2	2	2	1	2	4	7			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:55904306C>A	ENST00000301529.1	-	1	888	c.889G>T	c.(889-891)Gta>Tta	p.V297L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCAACATTTACATCATTATTC	0.338													20	141					3.99206e-14	4.65346e-14	1	0	A	55904306	C	A	55904306	3	1	11	1	0	0	0	0	1	0	0	0	11313	478	17	4	60	4	OR8J3	11	55904306	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	8573765	55904306	79102210	73	2738											
OR9Q1	219956	broad.mit.edu	37	chr11	57947391	57947391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcatcagtgccttggtgCggacagtctcagccttcact	6	12	10	13	1	4	0	4	0	2	0	6	1	4	1	2	2	3	0	2	2	0	2	rs2513718		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:57947391C>T	ENST00000335397.3	+	3	791	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	159			R -> L (in dbSNP:rs12420738).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R159W(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGCCTTGGTGCGGACAGTCTC	0.537													24	62					0	0	0	0	T	57947391	C	T	57947391	3	4	11	1	0	0	0	0	1	0	0	0	11326	759	27	1	477	1	OR9Q1	11	57947391	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	2043085	57947391	77059125	74	2739											
OR1S1	219959	broad.mit.edu	37	chr11	57982965	57982965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacacagggaaagtggaaagCcttctccacttgtggctctc	10	9	10	12	0	2	0	0	0	2	0	4	2	2	2	2	3	1	1	2	3	2	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:57982965C>T	ENST00000309433.6	+	1	749	c.749C>T	c.(748-750)gCc>gTc	p.A250V		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AAGTGGAAAGCCTTCTCCACT	0.468													25	110					0	0	0	0	T	57982965	C	T	57982965	3	4	11	1	0	0	0	0	1	0	0	0	11043	739	26	4	751	4	OR1S1	11	57982965	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	35574	57982965	77023551	75	2740											
OR4D10	390197	broad.mit.edu	37	chr11	59244959	59244959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttccttggcctgacccaGaatcgggaagtgagcttagt	9	12	11	9	1	0	3	0	2	0	1	2	4	1	4	3	2	1	1	3	2	3	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:59244959G>A	ENST00000530162.1	+	1	114	c.57G>A	c.(55-57)caG>caA	p.Q19Q		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTGACCCAGAATCGGGAAG	0.403													5	162					0	0	0	0	A	59244959	G	A	59244959	2	1	11	1	0	0	0	0	0	0	0	1	11125	933	33	2		2	OR4D10	11	59244959	Silent	SNP	G	TCGA-BA-5556-01A-01D-1512-08	1261994	59244959	75761557	76	2741											
NRXN2	9379	broad.mit.edu	37	chr11	64397889	64397889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctacctgccgggtaccgctCgttgaccggccagctgtcca	5	8	11	17	4	0	1	0	1	0	0	2	1	1	1	7	2	4	4	7	2	2	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:64397889C>T	ENST00000265459.6	-	19	4203	c.3742G>A	c.(3742-3744)Gag>Aag	p.E1248K	NRXN2_ENST00000377551.1_Missense_Mutation_p.E1248K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E1241K|NRXN2_ENST00000377559.3_Missense_Mutation_p.E1208K|NRXN2_ENST00000301894.2_Missense_Mutation_p.E202K	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1248	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGGTACCGCTCGTTGACCGGC	0.731													10	60					0	0	0	0	T	64397889	C	T	64397889	3	4	11	1	0	0	0	0	1	0	0	0	10737	893	31	1	1416	1	NRXN2	11	64397889	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	5152930	64397889	70608627	77	2742											
SF1	7536	broad.mit.edu	37	chr11	64536792	64536792	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctggagtctcgataccctGcttcaggatgtttcttatct	6	16	8	11	1	5	0	1	0	4	0	6	3	5	2	1	2	2	2	1	2	2	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:64536792G>A	ENST00000377390.3	-	7	1019	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	SF1_ENST00000377394.3_Nonsense_Mutation_p.Q228*|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000422298.2_Nonsense_Mutation_p.Q113*|SF1_ENST00000377387.1_Nonsense_Mutation_p.Q353*|SF1_ENST00000334944.5_Nonsense_Mutation_p.Q228*|SF1_ENST00000433274.2_Nonsense_Mutation_p.Q202*|SF1_ENST00000227503.9_Nonsense_Mutation_p.Q228*	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	228					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA 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						TCGATACCCTGCTTCAGGATG	0.502													6	121					0	0	0	0	A	64536792	G	A	64536792	4	1	11	1	0	0	0	0	0	1	0	0	14232	1328	46	4	1403	4	SF1	11	64536792	Nonsense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	138903	64536792	70469724	78	2743											
C11orf30	56946	broad.mit.edu	37	chr11	76171120	76171120	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccaagtggaagtactgttTatgtcaaaagtaagtgatat	14	13	10	4	0	1	1	1	1	0	0	1	2	1	2	1	1	2	3	1	1	8	5			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:76171120T>C	ENST00000529032.1	+	5	562	c.562T>C	c.(562-564)Tat>Cat	p.Y188H	C11orf30_ENST00000525919.1_Missense_Mutation_p.Y189H|C11orf30_ENST00000334736.3_Missense_Mutation_p.Y188H|C11orf30_ENST00000524767.1_Missense_Mutation_p.Y203H|C11orf30_ENST00000343878.3_Missense_Mutation_p.Y188H|C11orf30_ENST00000524490.1_Missense_Mutation_p.Y189H|C11orf30_ENST00000533248.1_Missense_Mutation_p.Y202H|C11orf30_ENST00000525038.1_Missense_Mutation_p.Y203H			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	188	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AAGTACTGTTTATGTCAAAAG	0.458													45	309					0	0	0	0	C	76171120	T	C	76171120	3	2	11	1	0	0	0	0	1	0	0	0	1647	1754	61	5	580	5	C11orf30	11	76171120	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	11634328	76171120	58835396	79	2744											
CNTN5	53942	broad.mit.edu	37	chr11	100179177	100179177	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaacacattaaagagagtCtaggaagaccacagggattt	17	7	11	6	0	1	2	0	0	1	2	1	6	1	5	1	3	1	0	1	3	5	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:100179177C>G	ENST00000524871.1	+	21	2997	c.2707C>G	c.(2707-2709)Cta>Gta	p.L903V	CNTN5_ENST00000279463.3_Missense_Mutation_p.L903V|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.L903V|CNTN5_ENST00000418526.2_Missense_Mutation_p.L829V|CNTN5_ENST00000528682.1_Missense_Mutation_p.L903V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	903	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TAAAGAGAGTCTAGGAAGACC	0.418													8	49					0	0	0	0	G	100179177	C	G	100179177	3	3	11	1	0	0	0	0	1	0	0	0	3674	912	32	2	2781	2	CNTN5	11	100179177	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	24008057	100179177	34827339	80	2745											
BSX	390259	broad.mit.edu	37	chr11	122849989	122849989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtctcggacaggctgaGggccgtggccagctccactc	5	7	14	15	3	1	1	0	1	1	0	4	2	2	2	3	4	2	2	3	4	0	0			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:122849989G>A	ENST00000343035.2	-	2	487	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	147										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GACAGGCTGAGGGCCGTGGCC	0.612													43	119					0	0	0	0	A	122849989	G	A	122849989	3	1	11	1	0	0	0	0	1	0	0	0	1543	1000	35	4	269	4	BSX	11	122849989	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	22670812	122849989	12156527	81	2746											
OR6T1	219874	broad.mit.edu	37	chr11	123813728	123813728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagctcaggacggaggcaCctttgttgagcagtttggac	8	10	14	9	1	1	1	1	1	0	0	1	4	1	4	1	4	3	6	1	4	0	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:123813728C>A	ENST00000321252.2	-	1	852	c.818G>T	c.(817-819)gGt>gTt	p.G273V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GACGGAGGCACCTTTGTTGAG	0.512													70	226					5.02462e-34	6.0727e-34	1	0	A	123813728	C	A	123813728	3	1	11	1	0	0	0	0	1	0	0	0	11281	507	18	4	156	4	OR6T1	11	123813728	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	963739	123813728	11192788	82	2747											
DYRK4	8798	broad.mit.edu	37	chr12	4721794	4721794	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacctcaagccacagcccAggccccagaccctgaggaaa	13	2	10	16	0	1	2	1	1	0	1	1	4	1	4	6	3	3	0	6	3	3	0			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr12:4721794A>T	ENST00000540757.2	+	12	1391	c.1231A>T	c.(1231-1233)Agg>Tgg	p.R411W	DYRK4_ENST00000543431.1_Missense_Mutation_p.R411W|DYRK4_ENST00000010132.5_Missense_Mutation_p.R411W|DYRK4_ENST00000545342.1_Missense_Mutation_p.R48W	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	411						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GCCACAGCCCAGGCCCCAGAC	0.542													23	149					0	0	0	0	T	4721794	A	T	4721794	3	4	11	1	0	0	0	0	1	0	0	0	4894	179	7	5	1269	5	DYRK4	12	4721794	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08		4721794	129130101	83	2748											
RERG	85004	broad.mit.edu	37	chr12	15262344	15262344	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgatctcatctaggatGttcttaagtggcagcacttc	8	17	8	8	0	3	1	1	1	3	0	5	2	3	2	0	2	1	3	0	2	2	6			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr12:15262344G>A	ENST00000256953.2	-	5	636	c.300C>T	c.(298-300)aaC>aaT	p.N100N	RERG_ENST00000538313.1_Silent_p.N100N|RERG_ENST00000536465.1_Silent_p.N100N|RERG_ENST00000546331.1_Silent_p.N81N	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	100					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CATCTAGGATGTTCTTAAGTG	0.498													91	414					0	0	0	0	A	15262344	G	A	15262344	2	1	11	1	0	0	0	0	0	0	0	1	13314	1368	48	4		4	RERG	12	15262344	Silent	SNP	G	TCGA-BA-5556-01A-01D-1512-08	10540550	15262344	118589551	84	2749											
DIP2B	57609	broad.mit.edu	37	chr12	51080428	51080428	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaaagactggcagccacAcatctcacctgctgggacag	12	5	10	14	1	1	1	1	0	1	1	2	3	1	2	3	2	2	2	3	2	1	0			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr12:51080428A>T	ENST00000301180.5	+	12	1548	c.1514A>T	c.(1513-1515)cAc>cTc	p.H505L		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	505						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGGCAGCCACACATCTCACCT	0.458													4	24					0	0	0	0	T	51080428	A	T	51080428	3	4	11	1	0	0	0	0	1	0	0	0	4565	159	6	5	1560	5	DIP2B	12	51080428	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08	35818084	51080428	82771467	85	2750											
NAV3	89795	broad.mit.edu	37	chr12	78452823	78452823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatactagaagtctgaaccGaataccagacacagcaactt	17	8	6	10	1	1	3	0	1	1	2	1	4	1	3	2	0	5	1	2	0	8	5			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr12:78452823G>A	ENST00000397909.2	+	12	2737	c.2564G>A	c.(2563-2565)cGa>cAa	p.R855Q	NAV3_ENST00000228327.6_Missense_Mutation_p.R855Q|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000536525.2_Missense_Mutation_p.R855Q|NAV3_ENST00000266692.7_Missense_Mutation_p.R855Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	855						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGTCTGAACCGAATACCAGAC	0.413										HNSCC(70;0.22)			20	89					0	0	0	0	A	78452823	G	A	78452823	3	1	11	1	0	0	0	0	1	0	0	0	10255	1058	37	1	2610	1	NAV3	12	78452823	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	27372395	78452823	55399072	86	2751											
HNF1A	6927	broad.mit.edu	37	chr12	121431330	121431330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtgcctgcagagttcacCcatgcagggcagggagggct	7	8	15	11	0	2	1	1	0	1	1	2	2	2	2	2	3	3	5	2	3	0	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr12:121431330C>T	ENST00000257555.6	+	3	760	c.534C>T	c.(532-534)acC>acT	p.T178T	HNF1A_ENST00000543427.1_Silent_p.T61T|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.T178T|HNF1A_ENST00000541395.1_Silent_p.T178T|HNF1A_ENST00000402929.1_Silent_p.T178T|HNF1A_ENST00000400024.2_Silent_p.T178T			P20823	HNF1A_HUMAN	HNF1 homeobox A	178					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.H179fs*9(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGAGTTCACCCATGCAGGGC	0.587									Hepatic Adenoma, Familial Clustering of				6	38					0	0	0	0	T	121431330	C	T	121431330	2	4	11	1	0	0	0	0	0	0	0	1	7301	610	22	4		4	HNF1A	12	121431330	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08	42978507	121431330	12420565	87	2752											
OASL	8638	broad.mit.edu	37	chr12	121461833	121461833	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggttctccctgttgtcaTagcaacagtcctgtttcagg	6	14	11	10	0	3	0	2	0	1	0	5	0	4	0	2	3	2	4	2	3	2	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr12:121461833T>C	ENST00000257570.5	-	5	1277	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	OASL_ENST00000339275.5_Silent_p.L255L	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	336					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGTTGTCATAGCAACAGTC	0.557													5	102					0	0	0	0	C	121461833	T	C	121461833	3	2	11	1	0	0	0	0	1	0	0	0	10873	1406	49	5	545	5	OASL	12	121461833	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	30503	121461833	12390062	88	2753											
MIPEP	4285	broad.mit.edu	37	chr13	24460635	24460635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcactcagctcaggaactCcaaaaagacccttagaacca	15	5	8	13	0	2	2	2	0	0	2	3	3	3	3	3	2	3	2	3	2	5	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:24460635C>T	ENST00000382172.3	-	2	298	c.200G>A	c.(199-201)gGa>gAa	p.G67E	MIPEP_ENST00000469167.1_5'UTR	NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	67					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CTCAGGAACTCCAAAAAGACC	0.373													25	120					0	0	0	0	T	24460635	C	T	24460635	3	4	11	1	0	0	0	0	1	0	0	0	9661	855	30	2	2013	2	MIPEP	13	24460635	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08		24460635	90709243	89	2754											
ATP12A	479	broad.mit.edu	37	chr13	25276139	25276139	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagagtgtggggatcattTcagccaacagtgaaacagtg	13	8	12	8	0	2	2	2	1	0	1	2	3	2	3	2	2	3	0	2	2	3	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:25276139T>C	ENST00000218548.6	+	14	2299	c.1966T>C	c.(1966-1968)Tca>Cca	p.S656P	ATP12A_ENST00000381946.3_Missense_Mutation_p.S650P	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	650					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGGGATCATTTCAGCCAACAG	0.458													22	131					0	0	0	0	C	25276139	T	C	25276139	3	2	11	1	0	0	0	0	1	0	0	0	1126	1783	62	5	2020	5	ATP12A	13	25276139	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	815504	25276139	89893739	90	2755											
FRY	10129	broad.mit.edu	37	chr13	32841345	32841345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggagtctctccccctccctCgcccttcttctcagccatcc	3	11	6	21	1	3	0	1	0	3	0	9	1	6	1	6	1	1	0	6	1	0	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:32841345C>T	ENST00000380250.3	+	55	8481	c.7985C>T	c.(7984-7986)tCg>tTg	p.S2662L	FRY_ENST00000542859.1_Missense_Mutation_p.S32L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCCCCTCCCTCGCCCTTCTTC	0.537													47	230					0	0	0	0	T	32841345	C	T	32841345	3	4	11	1	0	0	0	0	1	0	0	0	6111	893	31	1	8203	1	FRY	13	32841345	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	7565206	32841345	82328533	91	2756											
LRCH1	23143	broad.mit.edu	37	chr13	47260079	47260079	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtaaagtttgacttttcctGcaacaaagtgctcgtgattc	10	14	9	8	1	0	2	0	2	0	0	3	2	1	2	1	1	3	4	1	1	4	5			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:47260079G>C	ENST00000311191.6	+	5	954	c.725G>C	c.(724-726)tGc>tCc	p.C242S	LRCH1_ENST00000389797.3_Missense_Mutation_p.C242S|LRCH1_ENST00000389798.3_Missense_Mutation_p.C242S	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	242										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GACTTTTCCTGCAACAAAGTG	0.343													7	55					0	0	0	0	C	47260079	G	C	47260079	3	2	11	1	0	0	0	0	1	0	0	0	8996	1319	46	4	743	4	LRCH1	13	47260079	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	14418734	47260079	67909799	92	2757											
WDFY2	115825	broad.mit.edu	37	chr13	52313218	52313218	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgttgggacccagtccAgcgggtgttgttctcaggca	5	12	13	11	1	2	0	1	0	2	0	5	1	3	1	2	3	1	4	2	3	0	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:52313218A>T	ENST00000298125.5	+	7	812	c.632A>T	c.(631-633)cAg>cTg	p.Q211L		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	211							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		GACCCAGTCCAGCGGGTGTTG	0.512													43	215					0	0	0	0	T	52313218	A	T	52313218	3	4	11	1	0	0	0	0	1	0	0	0	17365	188	7	5	658	5	WDFY2	13	52313218	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08	5053139	52313218	62856660	93	2758											
MYCBP2	23077	broad.mit.edu	37	chr13	77625189	77625190	+	Frame_Shift_Ins	INS	-	-	A																															gtcattctttgaaaatcatcINSatgacaagcattacaaaaat																										TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:77625189_77625190insA	ENST00000407578.2	-	82	14129_14130	c.13863_13864insT	c.(13861-13866)caatgafs	p.Q*4621fs	MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.Q*4583fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.Q*4583fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGAAAATCATCATGACAAGCAT	0.347													23	138	---	---	---	---					A	77625190	-	A	77625189	7	5	11	1	0	1	1	0	0	0	0	0	10088	826	29	0	180	0	MYCBP2	13	77625189	Frame_Shift_Ins	INS	-	TCGA-BA-5556-01A-01D-1512-08	25311971	77625189	37544689	94	2759											
SLITRK5	26050	broad.mit.edu	37	chr13	88329623	88329623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcggaggggcgtcgtcGgtgcccttgtctgtgttaat	4	11	17	9	4	1	0	0	0	1	0	3	1	1	1	1	5	1	2	1	5	1	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:88329623G>A	ENST00000325089.6	+	2	2199	c.1980G>A	c.(1978-1980)tcG>tcA	p.S660S	SLITRK5_ENST00000400028.3_Silent_p.S419S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	660						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGGCGTCGTCGGTGCCCTTGT	0.642													7	51					0	0	0	0	A	88329623	G	A	88329623	2	1	11	1	0	0	0	0	0	0	0	1	14834	1103	39	1		1	SLITRK5	13	88329623	Silent	SNP	G	TCGA-BA-5556-01A-01D-1512-08	10704434	88329623	26840255	95	2760											
GPC6	10082	broad.mit.edu	37	chr13	94482798	94482798	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgcaaaccgagtttccaaGgtaattgaaaacgtgctttc	12	12	9	8	2	0	1	0	1	0	0	2	2	1	1	2	1	4	5	2	1	5	5			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:94482798G>T	ENST00000377047.4	+	3	1326	c.711_splice	c.e3+1	p.K237_splice	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	237						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GAGTTTCCAAGGTAATTGAAA	0.398													9	61					1.12685e-05	1.21972e-05	1	0	T	94482798	G	T	94482798	5	4	11	1	0	0	0	0	0	0	1	0	6651	1014	35	4	721	4	GPC6	13	94482798	Splice_Site	SNP	G	TCGA-BA-5556-01A-01D-1512-08	6153175	94482798	20687080	96	2761											
SLC10A2	6555	broad.mit.edu	37	chr13	103710731	103710731	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatgtggtcatgctgaCgctgaaaggcaatgggcaga	11	7	16	7	1	1	3	1	2	0	1	1	4	1	4	0	4	2	5	0	4	2	0	rs150843319	by1000genomes	TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:103710731C>T	ENST00000245312.3	-	2	975	c.377_splice	c.e2-1	p.V127_splice		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	127					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTCATGCTGACGCTGAAAGGC	0.423													14	84					0	0	0	0	T	103710731	C	T	103710731	5	4	11	1	0	0	0	0	0	0	1	0	14462	550	19	1	687	1	SLC10A2	13	103710731	Splice_Site	SNP	C	TCGA-BA-5556-01A-01D-1512-08	9227933	103710731	11459147	97	2762											
REM2	161253	broad.mit.edu	37	chr14	23355326	23355326	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaccgacggagtttctccAaagttccagagaccctactt	10	9	8	14	3	1	1	0	0	1	1	3	5	2	2	5	1	1	2	5	1	2	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr14:23355326A>G	ENST00000267396.4	+	4	736	c.613A>G	c.(613-615)Aaa>Gaa	p.K205E	REM2_ENST00000536884.1_Missense_Mutation_p.Q180R	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	205					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GAGTTTCTCCAAAGTTCCAGA	0.627													13	73					0	0	0	0	G	23355326	A	G	23355326	3	3	11	1	0	0	0	0	1	0	0	0	13305	131	5	5	627	5	REM2	14	23355326	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08		23355326	83994214	98	2763											
PNN	5411	broad.mit.edu	37	chr14	39650863	39650863	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcacagaaggagcgtGgatcggaagagaagggatac	17	3	16	5	2	0	3	0	0	0	3	1	8	0	7	0	4	3	1	0	4	5	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr14:39650863G>T	ENST00000216832.4	+	9	2017	c.1950G>T	c.(1948-1950)gtG>gtT	p.V650V	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	650	Arg-rich.|Necessary for interaction with PPIG.|Ser-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GAAGGAGCGTGGATCGGAAGA	0.443													5	111					0.184627	0.187482	1	0	T	39650863	G	T	39650863	2	4	11	1	0	0	0	0	0	0	0	1	12232	1335	47	4		4	PNN	14	39650863	Silent	SNP	G	TCGA-BA-5556-01A-01D-1512-08	16295537	39650863	67698677	99	2764											
RDH12	145226	broad.mit.edu	37	chr14	68191267	68191267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatcactggcgccaacaCgggcattggcaaggagacgg	10	5	16	10	3	1	2	1	1	0	1	1	3	1	2	1	6	1	2	1	6	2	1	rs28940314		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr14:68191267C>T	ENST00000551171.1	+	4	470	c.146C>T	c.(145-147)aCg>aTg	p.T49M	RDH12_ENST00000267502.3_Missense_Mutation_p.T49M|RDH12_ENST00000539142.1_Missense_Mutation_p.T49M	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	49			T -> M (in LCA13; aberrant activity in interconverting isomers of retinol and retinal; there is differing activity profiles associated with each of the alleles of the R-161-Q polymorphism; genetic background may act as a modifier of mutation effect; dbSNP:rs28940314).		photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	GGCGCCAACACGGGCATTGGC	0.557													19	72					0	0	0	0	T	68191267	C	T	68191267	3	4	11	1	0	0	0	0	1	0	0	0	13273	536	19	1	152	1	RDH12	14	68191267	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	28540404	68191267	39158273	100	2765											
PPP4R4	57718	broad.mit.edu	37	chr14	94711996	94711996	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtggagaaagcagtgttCaagaaaataaggtaaacttc	16	9	11	5	0	1	2	1	0	0	2	2	3	1	2	0	3	2	3	0	3	7	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr14:94711996C>T	ENST00000304338.3	+	13	1571	c.1417C>T	c.(1417-1419)Caa>Taa	p.Q473*		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	473						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAGCAGTGTTCAAGAAAATAA	0.338													25	148					0	0	0	0	T	94711996	C	T	94711996	4	4	11	1	0	0	0	0	0	1	0	0	12481	827	29	2	1540	2	PPP4R4	14	94711996	Nonsense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	26520729	94711996	12637544	101	2766											
RYR3	6263	broad.mit.edu	37	chr15	34040349	34040349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcgctggcctgcgcgagagtCcctgaaaaccatgctggctg	7	8	13	13	3	0	2	0	1	0	1	2	3	1	2	3	2	3	3	3	2	2	0			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr15:34040349C>G	ENST00000389232.4	+	54	8094	c.8024C>G	c.(8023-8025)tCc>tGc	p.S2675C	RYR3_ENST00000415757.3_Missense_Mutation_p.S2675C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2675	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S2675F(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCGCGAGAGTCCCTGAAAACC	0.527													16	99					0	0	0	0	G	34040349	C	G	34040349	3	3	11	1	0	0	0	0	1	0	0	0	13855	855	30	2	8238	2	RYR3	15	34040349	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08		34040349	68491043	102	2767											
TYRO3	7301	broad.mit.edu	37	chr15	41870164	41870164	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgcgaatggaactggagaAcatcttgggccagctgtctg	9	10	13	9	1	3	1	0	0	3	1	3	4	3	2	1	3	4	1	1	3	3	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr15:41870164A>T	ENST00000263798.3	+	19	2587	c.2363A>T	c.(2362-2364)aAc>aTc	p.N788I	TYRO3_ENST00000559066.1_Missense_Mutation_p.N743I	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	788	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAACTGGAGAACATCTTGGGC	0.572													9	102					0	0	0	0	T	41870164	A	T	41870164	3	4	11	1	0	0	0	0	1	0	0	0	16910	43	2	5	2437	5	TYRO3	15	41870164	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08	7829815	41870164	60661228	103	2768											
TP53BP1	7158	broad.mit.edu	37	chr15	43701208	43701209	+	Frame_Shift_Ins	INS	-	-	G																															cccagacatgagacacacaaINSggaatcccactggcaaggca																										TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr15:43701208_43701209insG	ENST00000263801.3	-	26	5723_5724	c.5471_5472insC	c.(5470-5472)ctgfs	p.L1824fs	TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.L1827fs|TP53BP1_ENST00000382039.3_Frame_Shift_Ins_p.L1779fs|TP53BP1_ENST00000382044.4_Frame_Shift_Ins_p.L1829fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1824	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GAGACACACAAGGAATCCCACT	0.49								Other conserved DNA damage response genes					16	123	---	---	---	---					G	43701209	-	G	43701208	7	5	11	1	0	1	1	0	0	0	0	0	16478	59	3	0	458	0	TP53BP1	15	43701208	Frame_Shift_Ins	INS	-	TCGA-BA-5556-01A-01D-1512-08	1831044	43701208	58830184	104	2769											
DMXL2	23312	broad.mit.edu	37	chr15	51806663	51806663	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatggctgaaaaaatatttCtgtttcctttttctccatat	10	19	5	7	0	2	2	0	2	2	0	4	2	3	2	2	1	0	2	2	1	5	6			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr15:51806663C>G	ENST00000251076.5	-	15	2907	c.2620G>C	c.(2620-2622)Gaa>Caa	p.E874Q	DMXL2_ENST00000543779.2_Missense_Mutation_p.E874Q|DMXL2_ENST00000449909.3_Missense_Mutation_p.E874Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	874						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.E874*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAAAATATTTCTGTTTCCTTT	0.318													32	213					0	0	0	0	G	51806663	C	G	51806663	3	3	11	1	0	0	0	0	1	0	0	0	4632	922	32	2	6609	2	DMXL2	15	51806663	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	8105455	51806663	50724729	105	2770											
ANPEP	290	broad.mit.edu	37	chr15	90328694	90328694	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggcccgggtgcctgagccGaagcctgtttcctcgttgtc	4	10	14	13	3	0	1	0	1	0	0	3	2	1	1	5	2	3	2	5	2	1	2	rs145116014		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr15:90328694G>A	ENST00000300060.6	-	21	3103	c.2790C>T	c.(2788-2790)ttC>ttT	p.F930F		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	930	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	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)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TGCCTGAGCCGAAGCCTGTTT	0.562													14	212					0	0	0	0	A	90328694	G	A	90328694	2	1	11	1	0	0	0	0	0	0	0	1	709	1049	37	1		1	ANPEP	15	90328694	Silent	SNP	G	TCGA-BA-5556-01A-01D-1512-08	38522031	90328694	12202698	106	2771											
METRN	79006	broad.mit.edu	37	chr16	765975	765975	+	Frame_Shift_Del	DEL	G	G	-																															ccccgcaggcccacggtctcGgcgtagacggtgagtggcgg																										TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr16:765975delG	ENST00000568223.2	+	2	671	c.496delG	c.(496-498)gcfs	p.G166fs		NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	166										skin(1)	1		Hepatocellular(780;0.00335)				CCACGGTCTCGGCGTAGACGG	0.711													2	4	---	---	---	---					-	765975	G	-	765975	7	5	11	1	0	1	0	1	0	0	0	0	9557	1116	39	0	502	0	METRN	16	765975	Frame_Shift_Del	DEL	G	TCGA-BA-5556-01A-01D-1512-08		765975	89588778	107	2772											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140386	3140386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctcaccccgcagtccGcgcagatgaactgcaactcc	10	5	10	16	3	1	2	1	1	0	1	3	3	3	3	4	1	4	4	4	1	3	0			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr16:3140386G>A	ENST00000252463.2	-	5	971	c.884C>T	c.(883-885)gCg>gTg	p.A295V	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.A213V|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	295					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCCGCAGTCCGCGCAGATGAA	0.637													7	129					0	0	0	0	A	3140386	G	A	3140386	3	1	11	1	0	0	0	0	1	0	0	0	18320	1087	38	1	1297	1	ZSCAN10	16	3140386	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	2374411	3140386	87214367	108	2773											
MON1B	22879	broad.mit.edu	37	chr16	77229463	77229463	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggccccctacagcagagagGaggagcggcagcggctgtcg	9	3	17	12	3	0	1	0	0	0	1	1	4	0	3	2	5	4	3	2	5	1	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr16:77229463G>C	ENST00000248248.3	+	5	1677	c.1327G>C	c.(1327-1329)Gag>Cag	p.E443Q	MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Missense_Mutation_p.E334Q|MON1B_ENST00000545553.1_Missense_Mutation_p.E297Q	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	443							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGCAGAGAGGAGGAGCGGCA	0.632													5	24					0	0	0	0	C	77229463	G	C	77229463	3	2	11	1	0	0	0	0	1	0	0	0	9769	1175	41	2	1341	2	MON1B	16	77229463	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	74089077	77229463	13125290	109	2774											
SLC38A8	146167	broad.mit.edu	37	chr16	84050761	84050761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctccccaggaagagcaCgatggggtagacagttacga	12	6	12	11	2	1	2	1	0	0	2	2	5	2	3	3	3	2	3	3	3	3	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr16:84050761C>T	ENST00000299709.3	-	7	936	c.937G>A	c.(937-939)Gtg>Atg	p.V313M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	313					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGAAGAGCACGATGGGGTAG	0.552													10	56					0	0	0	0	T	84050761	C	T	84050761	3	4	11	1	0	0	0	0	1	0	0	0	14698	536	19	1	386	1	SLC38A8	16	84050761	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	6821298	84050761	6303992	110	2775											
PRDM7	11105	broad.mit.edu	37	chr16	90133294	90133294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtttactctgttctcctCtgaaggccatccaaggaggt	7	13	11	10	0	3	1	0	1	3	0	5	2	4	2	3	4	1	2	3	4	3	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr16:90133294C>T	ENST00000449207.2	-	4	345	c.326G>A	c.(325-327)aGa>aAa	p.R109K	PRDM7_ENST00000407825.1_5'UTR	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	109						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)		CTGTTCTCCTCTGAAGGCCAT	0.383													46	281					0	0	0	0	T	90133294	C	T	90133294	3	4	11	1	0	0	0	0	1	0	0	0	12541	913	32	2	1180	2	PRDM7	16	90133294	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	6082533	90133294	221459	111	2776											
RPH3AL	9501	broad.mit.edu	37	chr17	169309	169309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgttccccatcacattccGcctcatggtctccagccgct	5	10	7	19	3	3	0	2	0	1	0	6	0	5	0	7	1	1	2	7	1	0	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:169309G>A	ENST00000323434.8	-	5	850	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	RPH3AL_ENST00000536489.2_Missense_Mutation_p.R85W|RPH3AL_ENST00000331302.7_Missense_Mutation_p.R85W	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	85	RabBD.			R -> Q (in Ref. 4; AAH05153).	exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding	p.R85W(1)		NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		ATCACATTCCGCCTCATGGTC	0.632													5	40					0	0	0	0	A	169309	G	A	169309	3	1	11	1	0	0	0	0	1	0	0	0	13637	1086	38	1	718	1	RPH3AL	17	169309	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08		169309	81025901	112	2777											
TOM1L2	146691	broad.mit.edu	37	chr17	17788024	17788024	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctttcctcttcagctccTcatatatgtgcacaacgccg	7	12	5	17	2	3	0	2	0	1	0	5	0	5	0	5	0	3	2	5	0	3	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:17788024T>A	ENST00000581396.1	-	4	371	c.275A>T	c.(274-276)gAg>gTg	p.E92V	TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E142V|TOM1L2_ENST00000318094.10_Intron|TOM1L2_ENST00000395739.4_Intron|TOM1L2_ENST00000379504.3_Missense_Mutation_p.E142V	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	142	VHS.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CTTCAGCTCCTCATATATGTG	0.517													23	207					0	0	0	0	A	17788024	T	A	17788024	3	1	11	1	0	0	0	0	1	0	0	0	16447	1551	54	5	1142	5	TOM1L2	17	17788024	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	17618715	17788024	63407186	113	2778											
ABHD15	116236	broad.mit.edu	37	chr17	27893561	27893561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccccgaacacaaggtcCtaccacccagtccagggcca	10	3	10	18	2	0	0	0	0	0	0	2	1	2	0	7	3	2	0	7	3	3	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:27893561C>G	ENST00000307201.4	-	1	594	c.424G>C	c.(424-426)Gga>Cga	p.G142R	RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000584522.1_3'UTR	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	142						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						ACACAAGGTCCTACCACCCAG	0.687													3	28					0	0	0	0	G	27893561	C	G	27893561	3	3	11	1	0	0	0	0	1	0	0	0	81	690	24	4	990	4	ABHD15	17	27893561	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	10105537	27893561	53301649	114	2779											
WIPF2	147179	broad.mit.edu	37	chr17	38421105	38421105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcgagagggacctcctgCtccacccccagtcaaaccac	9	6	9	17	1	1	1	1	0	0	1	4	3	3	2	6	2	2	1	6	2	1	0			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:38421105C>T	ENST00000323571.4	+	5	917	c.677C>T	c.(676-678)gCt>gTt	p.A226V	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.A226V|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.A226V	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	226						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GGACCTCCTGCTCCACCCCCA	0.607										HNSCC(43;0.11)			29	213					0	0	0	0	T	38421105	C	T	38421105	3	4	11	1	0	0	0	0	1	0	0	0	17464	797	28	4	691	4	WIPF2	17	38421105	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	10527544	38421105	42774105	115	2780											
ANKFN1	162282	broad.mit.edu	37	chr17	54230890	54230890	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggaggcgtctctaaccaGggtaggaaaacaatagttct	13	9	11	8	1	2	0	0	0	2	0	3	2	2	2	1	4	2	2	1	4	6	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:54230890G>A	ENST00000566473.2	+	1	20	c.21_splice	c.e1+1	p.R7_splice	ANKFN1_ENST00000574292.1_3'UTR|ANKFN1_ENST00000318698.2_Splice_Site_p.R7_splice			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	7										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TCTCTAACCAGGGTAGGAAAA	0.488													11	112					0	0	0	0	A	54230890	G	A	54230890	5	1	11	1	0	0	0	0	0	0	1	0	625	1014	35	4	22	4	ANKFN1	17	54230890	Splice_Site	SNP	G	TCGA-BA-5556-01A-01D-1512-08	15809785	54230890	26964320	116	2781											
TRIM37	4591	broad.mit.edu	37	chr17	57181722	57181722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcatcccgcaatttctccaTacaaatgaaacatcggaaaa	16	9	5	11	2	1	1	0	1	1	0	4	2	2	2	2	1	3	2	2	1	6	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:57181722T>C	ENST00000262294.7	-	2	314	c.55A>G	c.(55-57)Atg>Gtg	p.M19V	TRIM37_ENST00000584889.1_Missense_Mutation_p.M19V|TRIM37_ENST00000393065.2_Intron|TRIM37_ENST00000393066.3_Missense_Mutation_p.M19V|TRIM37_ENST00000376149.3_5'UTR	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	19						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AATTTCTCCATACAAATGAAA	0.408									Mulibrey Nanism				15	92					0	0	0	0	C	57181722	T	C	57181722	3	2	11	1	0	0	0	0	1	0	0	0	16606	1406	49	5	2939	5	TRIM37	17	57181722	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	2950832	57181722	24013488	117	2782											
MED13	9969	broad.mit.edu	37	chr17	60050211	60050211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactggctgaagagagaggaGcattcgaagtatatcctgtg	13	9	13	6	1	0	3	0	1	0	2	2	6	1	4	1	2	2	3	1	2	5	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:60050211G>A	ENST00000397786.2	-	17	3920	c.3844C>T	c.(3844-3846)Ctc>Ttc	p.L1282F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1282					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAGAGAGGAGCATTCGAAGT	0.373													60	249					0	0	0	0	A	60050211	G	A	60050211	3	1	11	1	0	0	0	0	1	0	0	0	9499	971	34	4	2736	4	MED13	17	60050211	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	2868489	60050211	21144999	118	2783											
TLK2	11011	broad.mit.edu	37	chr17	60678092	60678092	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattaatgtcggagaaagAggcccggtccattatcatgc	13	9	10	9	2	1	2	1	0	0	2	3	3	2	2	2	3	1	0	2	3	4	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:60678092A>G	ENST00000582809.1	+	19	1887	c.1184A>G	c.(1183-1185)gAg>gGg	p.E395G	TLK2_ENST00000346027.5_Missense_Mutation_p.E544G|TLK2_ENST00000326270.9_Missense_Mutation_p.E566G|TLK2_ENST00000343388.7_Missense_Mutation_p.E512G|TLK2_ENST00000542523.1_Missense_Mutation_p.E512G			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	566					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TCGGAGAAAGAGGCCCGGTCC	0.368													19	97					0	0	0	0	G	60678092	A	G	60678092	3	3	11	1	0	0	0	0	1	0	0	0	16038	304	11	5	1697	5	TLK2	17	60678092	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08	627881	60678092	20517118	119	2784											
ABCA10	10349	broad.mit.edu	37	chr17	67197795	67197795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaataatggagaatcccCatggccatctttatctaatt	15	12	6	8	0	2	1	0	0	2	1	3	3	3	1	3	2	0	0	3	2	6	5			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:67197795C>T	ENST00000269081.4	-	11	1930	c.1021G>A	c.(1021-1023)Ggg>Agg	p.G341R	ABCA10_ENST00000432313.2_Missense_Mutation_p.G341R|ABCA10_ENST00000416101.2_Missense_Mutation_p.G341R	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	341					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGAGAATCCCCATGGCCATCT	0.313													6	75					0	0	0	0	T	67197795	C	T	67197795	3	4	11	1	0	0	0	0	1	0	0	0	29	594	21	4	3730	4	ABCA10	17	67197795	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	6519703	67197795	13997415	120	2785											
SLC16A5	9121	broad.mit.edu	37	chr17	73096607	73096607	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctccatcatcggcttcagCaacatcttcctgaggcccct	8	11	6	16	1	4	1	2	1	2	0	7	1	5	1	4	2	2	2	4	2	1	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:73096607C>T	ENST00000450736.2	+	4	1264	c.849C>T	c.(847-849)agC>agT	p.S283S	SLC16A5_ENST00000580123.1_Silent_p.S283S|SLC16A5_ENST00000538213.2_Silent_p.S323S|SLC16A5_ENST00000329783.4_Silent_p.S283S			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	283					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.S283S(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCGGCTTCAGCAACATCTTCC	0.617													11	653					0	0	0	0	T	73096607	C	T	73096607	2	4	11	1	0	0	0	0	0	0	0	1	14499	709	25	4		4	SLC16A5	17	73096607	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08	5898812	73096607	8098603	121	2786											
RFNG	5986	broad.mit.edu	37	chr17	80006664	80006664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccgtgtctgggtacagaaGacaatggatagacttaaacc	13	9	11	8	1	1	3	0	0	1	3	2	4	2	4	2	2	2	1	2	2	6	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:80006664G>A	ENST00000310496.4	-	8	941	c.934C>T	c.(934-936)Ctt>Ttt	p.L312F	RFNG_ENST00000584838.1_5'UTR|RFNG_ENST00000429557.3_Missense_Mutation_p.L186F	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	312					cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGGTACAGAAGACAATGGATA	0.652													7	81					0	0	0	0	A	80006664	G	A	80006664	3	1	11	1	0	0	0	0	1	0	0	0	13334	942	33	2	65	2	RFNG	17	80006664	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	6910057	80006664	1188546	122	2787											
CDH19	28513	broad.mit.edu	37	chr18	64239419	64239419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaattcccaacataaaaCgcagcagtaaataacagttc	18	7	7	9	1	0	0	0	0	0	0	2	2	1	1	1	1	4	4	1	1	7	5			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr18:64239419C>T	ENST00000262150.2	-	2	315	c.23G>A	c.(22-24)cGt>cAt	p.R8H	CDH19_ENST00000540086.1_Missense_Mutation_p.R8H	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	8					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CAACATAAAACGCAGCAGTAA	0.398													4	99					0	0	0	0	T	64239419	C	T	64239419	3	4	11	1	0	0	0	0	1	0	0	0	3133	536	19	1	2339	1	CDH19	18	64239419	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08		64239419	13837829	123	2788											
ZNF791	163049	broad.mit.edu	37	chr19	12734621	12734621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgtgatgcaggaaacattCaagaacctggcatctatagg	14	9	11	7	0	2	2	1	1	1	1	2	4	2	3	1	3	3	2	1	3	5	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:12734621C>G	ENST00000343325.4	+	2	273	c.111C>G	c.(109-111)ttC>ttG	p.F37L	ZNF791_ENST00000446165.1_Missense_Mutation_p.F37L|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.F5L	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGGAAACATTCAAGAACCTGG	0.443													16	108					0	0	0	0	G	12734621	C	G	12734621	3	3	11	1	0	0	0	0	1	0	0	0	18256	825	29	2	117	2	ZNF791	19	12734621	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08		12734621	46394362	124	2789											
CPAMD8	27151	broad.mit.edu	37	chr19	17038893	17038893	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagggtgaaggcctcgctgTagctctcgtccacctccatc	6	9	10	16	2	1	1	0	1	1	0	6	1	3	1	5	2	1	3	5	2	2	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:17038893T>C	ENST00000443236.1	-	25	3468	c.3437A>G	c.(3436-3438)tAc>tGc	p.Y1146C		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1099						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGCCTCGCTGTAGCTCTCGTC	0.637													4	91					0	0	0	0	C	17038893	T	C	17038893	3	2	11	1	0	0	0	0	1	0	0	0	3825	1638	57	5	2433	5	CPAMD8	19	17038893	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	4304272	17038893	42090090	125	2790											
KLHL26	55295	broad.mit.edu	37	chr19	18779586	18779586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctggggccgcctcaggggGccgcctctacatctcgggtg	3	8	16	14	3	3	0	1	0	2	0	4	0	3	0	4	5	2	1	4	5	1	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:18779586G>T	ENST00000300976.4	+	3	1469	c.1379G>T	c.(1378-1380)gGc>gTc	p.G460V	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	460										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCTCAGGGGGCCGCCTCTAC	0.692													5	24					0.248553	0.251102	1	0	T	18779586	G	T	18779586	3	4	11	1	0	0	0	0	1	0	0	0	8433	1203	42	4	1389	4	KLHL26	19	18779586	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	1740693	18779586	40349397	126	2791											
ZNF208	7757	broad.mit.edu	37	chr19	22155688	22155688	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgtagggtttctctccAgtatgaattctcttatgttc	7	19	7	8	0	2	1	0	1	2	0	6	1	3	1	1	1	0	4	1	1	4	7			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:22155688A>T	ENST00000397126.4	-	4	2296	c.2148T>A	c.(2146-2148)acT>acA	p.T716T	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTTCTCTCCAGTATGAATTC	0.373													12	111					0	0	0	0	T	22155688	A	T	22155688	2	4	11	1	0	0	0	0	0	0	0	1	17861	175	7	5		5	ZNF208	19	22155688	Silent	SNP	A	TCGA-BA-5556-01A-01D-1512-08	3376102	22155688	36973295	127	2792											
ZNF181	339318	broad.mit.edu	37	chr19	35231761	35231761	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagtgtttacaaatacaatAtatttagaagcacctttcat	16	14	4	7	0	1	1	1	0	0	1	1	1	1	1	1	0	3	2	1	0	8	8			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:35231761A>G	ENST00000392232.3	+	6	775	c.607A>G	c.(607-609)Ata>Gta	p.I203V	ZNF181_ENST00000492450.1_Missense_Mutation_p.I159V|ZNF181_ENST00000459757.1_Missense_Mutation_p.I158V			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CAAATACAATATATTTAGAAG	0.373													23	104					0	0	0	0	G	35231761	A	G	35231761	3	3	11	1	0	0	0	0	1	0	0	0	17844	449	16	5	489	5	ZNF181	19	35231761	Missense_Mutation	SNP	A	TCGA-BA-5556-01A-01D-1512-08	13076073	35231761	23897222	128	2793											
SERTAD1	29950	broad.mit.edu	37	chr19	40928872	40928872	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatcctcagggcctggtttGaggccctcagaggctggtgc	5	9	14	13	0	2	2	2	1	0	1	3	2	3	2	4	5	1	2	4	5	0	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:40928872G>C	ENST00000357949.4	-	2	740	c.582C>G	c.(580-582)ctC>ctG	p.L194L		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	194					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCCTGGTTTGAGGCCCTCAG	0.582													6	26					0	0	0	0	C	40928872	G	C	40928872	2	2	11	1	0	0	0	0	0	0	0	1	14207	1277	45	2		2	SERTAD1	19	40928872	Silent	SNP	G	TCGA-BA-5556-01A-01D-1512-08	5697111	40928872	18200111	129	2794											
OPA3	80207	broad.mit.edu	37	chr19	46032622	46032622	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccagcagctccgcgcccaGctcggcggctgcaccctcgt	4	5	12	20	5	0	0	0	0	0	0	3	0	1	0	4	2	4	5	4	2	0	0			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:46032622G>A	ENST00000323060.3	-	2	312	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L		NM_001017989.2	NP_001017989.2	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	79					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		TCCGCGCCCAGCTCGGCGGCT	0.627													10	82					0	0	0	0	A	46032622	G	A	46032622	2	1	11	1	0	0	0	0	0	0	0	1	10943	962	34	4		4	OPA3	19	46032622	Silent	SNP	G	TCGA-BA-5556-01A-01D-1512-08	5103750	46032622	13096361	130	2795											
IGFL2	147920	broad.mit.edu	37	chr19	46664118	46664118	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtgccactcatctccCatctccagtaaatgtgaaag	11	10	6	14	0	3	1	1	1	2	0	6	1	4	1	4	0	1	1	4	0	3	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:46664118C>T	ENST00000434646.2	+	4	645	c.354C>T	c.(352-354)ccC>ccT	p.P118P	IGFL2_ENST00000377693.4_Silent_p.P107P|IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	107						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		ACTCATCTCCCATCTCCAGTA	0.532													5	129					0	0	0	0	T	46664118	C	T	46664118	2	4	11	1	0	0	0	0	0	0	0	1	7640	581	21	4		4	IGFL2	19	46664118	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08	631496	46664118	12464865	131	2796											
DHX34	9704	broad.mit.edu	37	chr19	47865870	47865870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctgcttccgcctctatGccgaatcggactatgatgcc	7	11	10	13	3	2	1	0	1	2	0	4	4	3	2	4	1	3	1	4	1	3	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:47865870G>A	ENST00000328771.4	+	6	1862	c.1513G>A	c.(1513-1515)Gcc>Acc	p.A505T	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	505	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCGCCTCTATGCCGAATCGGA	0.657													9	51					0	0	0	0	A	47865870	G	A	47865870	3	1	11	1	0	0	0	0	1	0	0	0	4544	1319	46	4	1531	4	DHX34	19	47865870	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	1201752	47865870	11263113	132	2797											
RBL1	5933	broad.mit.edu	37	chr20	35684633	35684633	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttagtattttcataaTgttttccacaggattacgca	10	18	5	8	1	1	0	1	0	0	0	3	1	3	1	2	1	1	3	2	1	4	9			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr20:35684633T>A	ENST00000373664.3	-	10	1345	c.1279A>T	c.(1279-1281)Att>Ttt	p.I427F	RBL1_ENST00000344359.3_Missense_Mutation_p.I427F	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	427	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				ATTTTCATAATGTTTTCCACA	0.348													13	51					0	0	0	0	A	35684633	T	A	35684633	3	1	11	1	0	0	0	0	1	0	0	0	13191	1464	51	5	1988	5	RBL1	20	35684633	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08		35684633	27340887	133	2798											
SLC12A5	57468	broad.mit.edu	37	chr20	44676687	44676687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggctcgctatgccctcttaCgcctggaggaagggccccca	6	7	12	16	3	1	0	0	0	1	0	2	2	1	2	4	4	2	2	4	4	3	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr20:44676687C>T	ENST00000454036.1	+	16	2120	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R659C|SLC12A5_ENST00000539566.1_3'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	682					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCCCTCTTACGCCTGGAGGA	0.597													3	24					0	0	0	0	T	44676687	C	T	44676687	3	4	11	1	0	0	0	0	1	0	0	0	14474	536	19	1	2162	1	SLC12A5	20	44676687	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	8992054	44676687	18348833	134	2799											
ZNF334	55713	broad.mit.edu	37	chr20	45131097	45131097	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctgcattcactgcatTcatagggtctctctccagta	7	16	6	12	0	4	0	2	0	2	0	7	0	5	0	2	1	2	3	2	1	2	6			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr20:45131097T>A	ENST00000457685.2	-	6	2090	c.767A>T	c.(766-768)gAa>gTa	p.E256V	ZNF334_ENST00000593880.1_Missense_Mutation_p.E317V|ZNF334_ENST00000347606.4_Missense_Mutation_p.E294V			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTCACTGCATTCATAGGGTCT	0.423													52	241					0	0	0	0	A	45131097	T	A	45131097	3	1	11	1	0	0	0	0	1	0	0	0	17946	1783	62	5	1165	5	ZNF334	20	45131097	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	454410	45131097	17894423	135	2800											
TPTE	7179	broad.mit.edu	37	chr21	10934054	10934054	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttactgtagagtggggacaTtatgatcatcaatcatgatt	12	14	9	6	0	3	3	3	2	0	1	3	4	3	4	0	2	1	1	0	2	4	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr21:10934054T>A	ENST00000298232.7	-	15	1236	c.869A>T	c.(868-870)aAt>aTt	p.N290I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.N308I|TPTE_ENST00000342420.5_Missense_Mutation_p.N270I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	308	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGTGGGGACATTATGATCATC	0.299													20	438					0	0	0	0	A	10934054	T	A	10934054	3	1	11	1	0	0	0	0	1	0	0	0	16525	1493	52	5	768	5	TPTE	21	10934054	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08		10934054	37195841	136	2801											
APP	351	broad.mit.edu	37	chr21	27269978	27269978	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccgtcttgatatttgtcaaCccagaacctgtattacatca	11	14	5	11	1	3	2	2	1	1	1	4	2	4	2	3	0	3	1	3	0	5	5	rs141559720	byFrequency	TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr21:27269978C>T	ENST00000358918.3	-	15	2116	c.1917G>A	c.(1915-1917)ggG>ggA	p.G639G	APP_ENST00000359726.3_Silent_p.G601G|APP_ENST00000357903.3_Silent_p.G638G|APP_ENST00000354192.3_Silent_p.G526G|APP_ENST00000348990.5_Silent_p.G582G|APP_ENST00000448388.2_Silent_p.G547G|APP_ENST00000346798.3_Silent_p.G657G|APP_ENST00000440126.3_Silent_p.G633G|APP_ENST00000439274.2_Silent_p.G601G	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	657					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TATTTGTCAACCCAGAACCTG	0.358													31	237					0	0	0	0	T	27269978	C	T	27269978	2	4	11	1	0	0	0	0	0	0	0	1	817	494	18	4		4	APP	21	27269978	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08	16335924	27269978	20859917	137	2802											
GRIK1	2897	broad.mit.edu	37	chr21	30959875	30959875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgactttctcccgcacgtagGtgatggtaagaggagccact	9	10	12	10	2	1	3	0	2	1	1	2	4	1	4	2	3	1	3	2	3	2	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr21:30959875G>T	ENST00000399914.1	-	11	2080	c.1559C>A	c.(1558-1560)aCc>aAc	p.T520N	GRIK1_ENST00000399913.1_Missense_Mutation_p.T535N|GRIK1_ENST00000399909.1_Missense_Mutation_p.T520N|GRIK1_ENST00000389125.3_Missense_Mutation_p.T520N|GRIK1_ENST00000309434.7_Missense_Mutation_p.T537N|GRIK1_ENST00000389124.2_Missense_Mutation_p.T535N|GRIK1_ENST00000399907.1_Missense_Mutation_p.T535N|GRIK1_ENST00000535441.1_Missense_Mutation_p.T537N|GRIK1_ENST00000327783.4_Missense_Mutation_p.T535N			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	535					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CCGCACGTAGGTGATGGTAAG	0.483													3	48					0.004672	0.00484413	1	0	T	30959875	G	T	30959875	3	4	11	1	0	0	0	0	1	0	0	0	6823	1261	44	4	1336	4	GRIK1	21	30959875	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	3689897	30959875	17170020	138	2803											
DSCR3	10311	broad.mit.edu	37	chr21	38610786	38610786	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgacaaacacgccatgaTacgtctcatacagaactttg	13	11	7	10	2	1	3	1	2	1	1	2	3	1	3	1	0	4	1	1	0	4	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr21:38610786T>C	ENST00000288304.5	-	3	992	c.200A>G	c.(199-201)tAt>tGt	p.Y67C	DSCR3_ENST00000398998.1_Missense_Mutation_p.Y61C|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000309117.6_Missense_Mutation_p.Y109C|DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000476950.1_Missense_Mutation_p.Y109C			O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	109					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						CACGCCATGATACGTCTCATA	0.448													7	162					0	0	0	0	C	38610786	T	C	38610786	3	2	11	1	0	0	0	0	1	0	0	0	4807	1406	49	5	591	5	DSCR3	21	38610786	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	7650911	38610786	9519109	139	2804											
B3GALT5	10317	broad.mit.edu	37	chr21	41032541	41032541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctggttctgggggctCtttgtttgtattttagcatg	3	19	12	7	0	3	0	0	0	3	0	3	0	3	0	1	3	1	5	1	3	2	7			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr21:41032541C>A	ENST00000380620.3	+	5	647	c.55C>A	c.(55-57)Ctt>Att	p.L19I	B3GALT5_ENST00000398714.2_Missense_Mutation_p.L19I|B3GALT5_ENST00000380618.1_Missense_Mutation_p.L19I|B3GALT5_ENST00000343118.4_Missense_Mutation_p.L19I|AF064860.5_ENST00000416555.1_RNA			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	19					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TCTGGGGGCTCTTTGTTTGTA	0.398													28	220					1.08312e-15	1.28539e-15	1	0	A	41032541	C	A	41032541	3	1	11	1	0	0	0	0	1	0	0	0	1254	913	32	2	57	2	B3GALT5	21	41032541	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	2421755	41032541	7097354	140	2805											
S100B	6285	broad.mit.edu	37	chr21	48022218	48022218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgggaaagctcattgttGatgagctccttcagttcgga	11	12	11	7	1	2	2	2	2	0	0	4	4	3	4	1	2	2	4	1	2	2	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr21:48022218G>C	ENST00000367071.4	-	2	307	c.111C>G	c.(109-111)atC>atG	p.I37M	S100B_ENST00000397648.1_Missense_Mutation_p.I37M|S100B_ENST00000291700.4_Missense_Mutation_p.I37M			P04271	S100B_HUMAN	S100 calcium binding protein B	37	EF-hand 1.				axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular region|nucleus|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5	Breast(49;0.247)	Lung NSC(3;0.245)		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)		GCTCATTGTTGATGAGCTCCT	0.443													11	76					0	0	0	0	C	48022218	G	C	48022218	3	2	11	1	0	0	0	0	1	0	0	0	13873	1280	45	2	175	2	S100B	21	48022218	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	6989677	48022218	107677	141	2806											
ATF4	468	broad.mit.edu	37	chr22	39918604	39918604	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggaagaaaagggtcccCtagttgaggatagtcaggag	13	6	17	5	0	1	2	1	1	0	1	2	5	2	5	2	5	0	1	2	5	5	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr22:39918604C>A	ENST00000337304.2	+	2	1935	c.1053C>A	c.(1051-1053)ccC>ccA	p.P351P	ATF4_ENST00000396680.1_Silent_p.P351P|ATF4_ENST00000404241.2_Silent_p.P351P	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	351					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					AAAGGGTCCCCTAGTTGAGGA	0.468													4	29					0.150653	0.153776	1	0	A	39918604	C	A	39918604	2	1	11	1	0	0	0	0	0	0	0	1	1086	668	24	4		4	ATF4	22	39918604	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08		39918604	11385962	142	2807											
DNAJB7	150353	broad.mit.edu	37	chr22	41257198	41257198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacccaagatatacctccCtcatcattgtccacgaaagt	13	10	5	13	1	2	1	2	0	0	1	4	2	4	1	4	0	2	1	4	0	5	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr22:41257198C>T	ENST00000307221.4	-	1	932	c.801G>A	c.(799-801)gaG>gaA	p.E267E	XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	267					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						ATATACCTCCCTCATCATTGT	0.423													23	136					0	0	0	0	T	41257198	C	T	41257198	2	4	11	1	0	0	0	0	0	0	0	1	4661	680	24	4		4	DNAJB7	22	41257198	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08	1338594	41257198	10047368	143	2808											
CYB5R3	1727	broad.mit.edu	37	chr22	43032788	43032788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtgatggctggcgtggagCgctggaacagcttcatgagc	7	8	18	8	2	1	2	1	2	0	0	1	4	1	4	0	5	4	3	0	5	1	1	rs140159332		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr22:43032788C>T	ENST00000361740.4	-	2	184	c.185G>A	c.(184-186)cGc>cAc	p.R62H	CYB5R3_ENST00000402438.1_Missense_Mutation_p.R6H|CYB5R3_ENST00000407332.1_Missense_Mutation_p.R6H|CYB5R3_ENST00000407623.3_Missense_Mutation_p.R6H|CYB5R3_ENST00000396303.3_Missense_Mutation_p.R6H|CYB5R3_ENST00000352397.5_Missense_Mutation_p.R29H	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	29	FAD-binding FR-type.				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	TGGCGTGGAGCGCTGGAACAG	0.647													7	23					0	0	0	0	T	43032788	C	T	43032788	3	4	11	1	0	0	0	0	1	0	0	0	4160	768	27	1	851	1	CYB5R3	22	43032788	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	1775590	43032788	8271778	144	2809											
FRMPD4	9758	broad.mit.edu	37	chrX	12701661	12701661	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattaaagtccaatcctgtCaaagtacgcttctctgagga	13	11	8	9	1	2	2	1	1	1	1	5	3	4	3	2	1	1	2	2	1	5	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:12701661C>A	ENST00000380682.1	+	6	1034	c.528C>A	c.(526-528)gtC>gtA	p.V176V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	176					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCAATCCTGTCAAAGTACGCT	0.418													14	90					2.31682e-05	2.48051e-05	1	0	A	12701661	C	A	12701661	2	1	11	1	0	0	0	0	0	0	0	1	6107	813	29	2		2	FRMPD4	23	12701661	Silent	SNP	C	TCGA-BA-5556-01A-01D-1512-08		12701661	142568899	145	2810											
PHKA2	5256	broad.mit.edu	37	chrX	18972501	18972501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggcatccttctgctcatgGctggctgacagcagccccgt	6	9	11	15	1	2	1	1	1	1	0	3	1	3	1	3	3	3	5	3	3	0	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:18972501G>T	ENST00000379942.4	-	2	773	c.108C>A	c.(106-108)agC>agA	p.S36R		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	36					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCTGCTCATGGCTGGCTGACA	0.562													25	107					4.26978e-12	4.89038e-12	1	0	T	18972501	G	T	18972501	3	4	11	1	0	0	0	0	1	0	0	0	11916	1194	42	4	3727	4	PHKA2	23	18972501	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	6270840	18972501	136298059	146	2811											
RPS6KA3	6197	broad.mit.edu	37	chrX	20211697	20211697	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtagaatttgacatcttcTtctgtgaacatcacctaaaa	15	13	5	8	0	4	3	1	2	3	1	4	3	4	3	1	0	1	1	1	0	6	5			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:20211697T>A	ENST00000379565.3	-	7	708	c.501A>T	c.(499-501)gaA>gaT	p.E167D	RPS6KA3_ENST00000379548.4_Missense_Mutation_p.E138D|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.E139D|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.E139D	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	167	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TGACATCTTCTTCTGTGAACA	0.294													6	78					0	0	0	0	A	20211697	T	A	20211697	3	1	11	1	0	0	0	0	1	0	0	0	13737	1606	56	5	1785	5	RPS6KA3	23	20211697	Missense_Mutation	SNP	T	TCGA-BA-5556-01A-01D-1512-08	1239196	20211697	135058863	147	2812											
KIF4A	24137	broad.mit.edu	37	chrX	69626750	69626750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttttcctagccaaaacCttctcgtgttaaagaaaagt	12	14	5	10	1	1	1	0	0	1	1	3	1	2	1	4	0	2	1	4	0	7	6			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:69626750C>T	ENST00000374403.3	+	28	3162	c.3080C>T	c.(3079-3081)cCt>cTt	p.P1027L	KIF4A_ENST00000374388.3_Missense_Mutation_p.P1027L	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1027	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TAGCCAAAACCTTCTCGTGTT	0.363													19	114					0	0	0	0	T	69626750	C	T	69626750	3	4	11	1	0	0	0	0	1	0	0	0	8354	681	24	4	3186	4	KIF4A	23	69626750	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	49415053	69626750	85643810	148	2813											
MED12	9968	broad.mit.edu	37	chrX	70349995	70349995	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgcagctcatttgctaTccacatcgactgctggacaa	10	11	7	13	1	2	0	2	0	0	0	4	2	3	1	1	1	4	4	1	1	2	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:70349995T>C	ENST00000333646.6	+	28	4177	c.3978T>C	c.(3976-3978)taT>taC	p.Y1326Y	MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Silent_p.Y1326Y|MED12_ENST00000374080.3_Silent_p.Y1326Y	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1326					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCATTTGCTATCCACATCGAC	0.572			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	29					0	0	0	0	C	70349995	T	C	70349995	2	2	11	1	0	0	0	0	0	0	0	1	9497	1442	50	5		5	MED12	23	70349995	Silent	SNP	T	TCGA-BA-5556-01A-01D-1512-08	723245	70349995	84920565	149	2814											
ATRX	546	broad.mit.edu	37	chrX	76814235	76814235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataagatggattccaagaagCgtcgaatataattactcgat	16	11	8	6	3	0	2	0	0	0	2	3	5	1	3	1	1	2	0	1	1	7	5			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:76814235C>T	ENST00000373344.5	-	29	6623	c.6409G>A	c.(6409-6411)Gct>Act	p.A2137T	ATRX_ENST00000395603.3_Missense_Mutation_p.A2099T|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2137	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.A2137T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCCAAGAAGCGTCGAATATA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						28	170					0	0	0	0	T	76814235	C	T	76814235	3	4	11	1	0	0	0	0	1	0	0	0	1212	768	27	1	1097	1	ATRX	23	76814235	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	6464240	76814235	78456325	150	2815											
ATRX	546	broad.mit.edu	37	chrX	76939409	76939409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccaaagcacaaggtttttCtccttttcgtgcttttgttt	6	20	6	9	1	1	0	0	0	1	0	4	0	2	0	2	1	2	4	2	1	2	8			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:76939409C>T	ENST00000373344.5	-	9	1553	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	ATRX_ENST00000395603.3_Missense_Mutation_p.E409K|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	447					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CAAGGTTTTTCTCCTTTTCGT	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						60	379					0	0	0	0	T	76939409	C	T	76939409	3	4	11	1	0	0	0	0	1	0	0	0	1212	922	32	2	6247	2	ATRX	23	76939409	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	125174	76939409	78331151	151	2816											
PGAM4	441531	broad.mit.edu	37	chrX	77224509	77224509	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgggaataccagtcggcagGttcagctccatgatagcctc	10	9	11	11	1	1	1	1	1	0	0	4	2	2	2	3	3	3	3	3	3	3	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:77224509G>A	ENST00000458128.1	-	1	626	c.627C>T	c.(625-627)aaC>aaT	p.N209N	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	209					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CAGTCGGCAGGTTCAGCTCCA	0.527													11	232					0	0	0	0	A	77224509	G	A	77224509	2	1	11	1	0	0	0	0	0	0	0	1	11847	1252	44	4		4	PGAM4	23	77224509	Silent	SNP	G	TCGA-BA-5556-01A-01D-1512-08	285100	77224509	78046051	152	2817											
GPRASP1	9737	broad.mit.edu	37	chrX	101909693	101909693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatcccaatagcaggtccagGtttaggtctaagaaagaagt	14	9	11	7	0	1	2	0	0	1	2	3	3	3	2	2	3	1	2	2	3	6	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:101909693G>T	ENST00000537097.1	+	6	1665	c.852G>T	c.(850-852)agG>agT	p.R284S	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.R284S|GPRASP1_ENST00000361600.5_Missense_Mutation_p.R284S|GPRASP1_ENST00000444152.1_Missense_Mutation_p.R284S	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	284						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCAGGTCCAGGTTTAGGTCTA	0.483													19	241					1.56452e-12	1.8024e-12	1	0	T	101909693	G	T	101909693	3	4	11	1	0	0	0	0	1	0	0	0	6772	1252	44	4	854	4	GPRASP1	23	101909693	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	24685184	101909693	53360867	153	2818											
RAB40A	142684	broad.mit.edu	37	chrX	102755663	102755663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagtcataggcctggtCggggctgcccggggcgctca	6	6	17	12	3	2	0	2	0	0	0	3	1	2	1	2	7	1	2	2	7	2	1			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:102755663C>A	ENST00000372633.1	-	1	2140	c.22G>T	c.(22-24)Gac>Tac	p.D8Y	RAB40A_ENST00000304236.1_Missense_Mutation_p.D8Y			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	8					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TAGGCCTGGTCGGGGCTGCCC	0.667													12	81					5.16669e-11	5.84964e-11	1	0	A	102755663	C	A	102755663	3	1	11	1	0	0	0	0	1	0	0	0	13021	884	31	3	815	3	RAB40A	23	102755663	Missense_Mutation	SNP	C	TCGA-BA-5556-01A-01D-1512-08	845970	102755663	52514897	154	2819											
WDR44	54521	broad.mit.edu	37	chrX	117582909	117582909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctgctgacttcactggaGcaatcaaagtgtttgttaat	10	15	8	8	0	3	1	2	1	1	0	4	2	3	2	0	1	2	4	0	1	3	3			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:117582909G>A	ENST00000254029.3	+	20	3096	c.2701G>A	c.(2701-2703)Gca>Aca	p.A901T	WDR44_ENST00000371825.3_Missense_Mutation_p.A893T|WDR44_ENST00000371822.5_Missense_Mutation_p.A812T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	901						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CTTCACTGGAGCAATCAAAGT	0.254													16	91					0	0	0	0	A	117582909	G	A	117582909	3	1	11	1	0	0	0	0	1	0	0	0	17392	971	34	4	2779	4	WDR44	23	117582909	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	14827246	117582909	37687651	155	2820											
CT47B1	643311	broad.mit.edu	37	chrX	120008795	120008795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcggttcctctgcggccgGttcctctgtggcctcctctg	0	13	13	15	3	3	0	0	0	3	0	7	0	6	0	5	5	1	2	5	5	0	2			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:120008795G>A	ENST00000371311.3	-	1	984	c.730C>T	c.(730-732)Ccg>Tcg	p.P244S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	244										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCTGCGGCCGGTtcctctgtg	0.692													34	197					0	0	0	0	A	120008795	G	A	120008795	3	1	11	1	0	0	0	0	1	0	0	0	4021	1261	44	4	177	4	CT47B1	23	120008795	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	2425886	120008795	35261765	156	2821											
PNMA5	114824	broad.mit.edu	37	chrX	152159412	152159412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagaaacctaaactgaGaggctctaaagtcctcttta	13	11	7	10	0	3	2	0	1	3	2	4	3	4	2	2	1	3	2	2	1	6	4			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:152159412G>T	ENST00000439251.1	-	2	1169	c.731C>A	c.(730-732)tCt>tAt	p.S244Y	PNMA5_ENST00000535214.1_Missense_Mutation_p.S244Y|PNMA5_ENST00000452693.1_Missense_Mutation_p.S244Y|PNMA5_ENST00000361887.5_Missense_Mutation_p.S244Y	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	244					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTAAACTGAGAGGCTCTAAA	0.522													30	184					3.00307e-07	3.32362e-07	1	0	T	152159412	G	T	152159412	3	4	11	1	0	0	0	0	1	0	0	0	12228	942	33	2	619	2	PNMA5	23	152159412	Missense_Mutation	SNP	G	TCGA-BA-5556-01A-01D-1512-08	32150617	152159412	3111148	157	2822											
HSPG2	3339	broad.mit.edu	37	chr1	22186712	22186712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacactggggttacccaCgtaacctgggccacacctgt	8	9	10	14	1	0	0	0	0	0	0	0	0	0	0	4	3	3	3	4	3	2	3	rs143523507		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:22186712C>T	ENST00000374695.3	-	40	5051	c.4972G>A	c.(4972-4974)Gtg>Atg	p.V1658M		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1658	Laminin EGF-like 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGTTACCCACGTAACCTGGG	0.637													4	26					0	0	0	0	T	22186712	C	T	22186712	3	4	12	1	0	0	0	0	1	0	0	0	7483	536	19	1	8435	1	HSPG2	1	22186712	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08		22186712	227063909	1	2823											
MOV10	4343	broad.mit.edu	37	chr1	113236698	113236698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcgaccacctgtttgcccTtttgtcctcggagacacacc	6	10	10	15	2	0	1	0	0	0	1	2	3	1	1	5	2	1	1	5	2	0	3			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:113236698T>C	ENST00000369644.1	+	9	2060	c.1031T>C	c.(1030-1032)cTt>cCt	p.L344P	MOV10_ENST00000413052.2_Missense_Mutation_p.L400P|MOV10_ENST00000357443.2_Missense_Mutation_p.L400P|MOV10_ENST00000369645.1_Missense_Mutation_p.L400P|MOV10_ENST00000468624.1_3'UTR|RP11-426L16.3_ENST00000421943.1_RNA			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	400					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTGTTTGCCCTTTTGTCCTCG	0.562													3	85					0	0	0	0	C	113236698	T	C	113236698	3	2	12	1	0	0	0	0	1	0	0	0	9788	1609	56	5	1225	5	MOV10	1	113236698	Missense_Mutation	SNP	T	TCGA-BA-5557-01A-01D-1512-08	91049986	113236698	136013923	2	2824											
SEC22B	9554	broad.mit.edu	37	chr1	145109975	145109976	+	RNA	INS	-	-	C																															cacatgtgacaggaactttgINSctaaagatctacttgattgg																								rs67257307		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													3	4	---	---	---	---					C	145109976	-	C	145109975	6	5	12	0	1	1	1	0	0	0	0	0	14076	1334	46	0		0	SEC22B	1	145109975	RNA	INS	-	TCGA-BA-5557-01A-01D-1512-08	31873277	145109975	104140646	3	2825											
TGFB2	7042	broad.mit.edu	37	chr1	218609454	218609454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcacaacagaccaaccggcgGaagaagcgtgctttggatgc	12	6	12	11	3	1	2	1	0	0	2	1	4	1	4	2	3	5	1	2	3	4	1			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:218609454G>A	ENST00000366929.4	+	6	1448	c.981G>A	c.(979-981)cgG>cgA	p.R327R	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Silent_p.R299R	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	299					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CCAACCGGCGGAAGAAGCGTG	0.433													6	70					0	0	0	0	A	218609454	G	A	218609454	2	1	12	1	0	0	0	0	0	0	0	1	15912	1161	41	2		2	TGFB2	1	218609454	Silent	SNP	G	TCGA-BA-5557-01A-01D-1512-08	73499479	218609454	30641167	4	2826											
OR2T33	391195	broad.mit.edu	37	chr1	248436658	248436658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacagcctgcaggagcccGtcagctgcacccaggagcca	11	3	11	16	1	1	0	1	0	0	0	1	2	1	2	4	2	7	3	4	2	1	0			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:248436658G>A	ENST00000318021.2	-	1	480	c.459C>T	c.(457-459)gaC>gaT	p.D153D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAGGAGCCCGTCAGCTGCAC	0.587													9	118					0	0	0	0	A	248436658	G	A	248436658	2	1	12	1	0	0	0	0	0	0	0	1	11095	1136	40	1		1	OR2T33	1	248436658	Silent	SNP	G	TCGA-BA-5557-01A-01D-1512-08	29827204	248436658	813963	5	2827											
TTN	7273	broad.mit.edu	37	chr2	179659934	179659934	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcaatggagacctaacAgacctgatgggggatgtgga	13	7	15	6	0	0	4	0	2	0	2	0	7	0	6	2	4	2	1	2	4	2	1			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr2:179659934A>G	ENST00000589042.1	-	7	1184	c.960T>C	c.(958-960)tcT>tcC	p.S320S	TTN_ENST00000359218.5_Silent_p.S320S|TTN_ENST00000342992.6_Silent_p.S320S|TTN_ENST00000591111.1_Silent_p.S320S|TTN_ENST00000342175.6_Silent_p.S320S|TTN_ENST00000360870.5_Silent_p.S320S|TTN_ENST00000460472.2_Silent_p.S320S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	320	ZIS1.						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)			GAGACCTAACAGACCTGATGG	0.547													10	60					0	0	0	0	G	179659934	A	G	179659934	2	3	12	1	0	0	0	0	0	0	0	1	16831	175	7	5		5	TTN	2	179659934	Silent	SNP	A	TCGA-BA-5557-01A-01D-1512-08		179659934	63539439	6	2828											
ARMC9	80210	broad.mit.edu	37	chr2	232081457	232081457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctttctatgcccttcCttttgttcccaaccctatgg	4	18	4	15	0	2	0	0	0	2	0	5	0	5	0	5	1	2	1	5	1	3	8			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr2:232081457C>T	ENST00000349938.4	+	5	649	c.455C>T	c.(454-456)cCt>cTt	p.P152L	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	152							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TATGCCCTTCCTTTTGTTCCC	0.463													9	141					0	0	0	0	T	232081457	C	T	232081457	3	4	12	1	0	0	0	0	1	0	0	0	962	681	24	4	469	4	ARMC9	2	232081457	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08	52421523	232081457	11117916	7	2829											
NR2C2	7182	broad.mit.edu	37	chr3	15079580	15079580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagttctgtaacagcatGgcgaagctggatatagatgg	12	9	14	6	1	1	1	0	0	1	1	1	4	1	3	0	4	3	4	0	4	4	4			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:15079580G>A	ENST00000425241.1	+	12	1808	c.1446G>A	c.(1444-1446)atG>atA	p.M482I	NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000323373.6_Missense_Mutation_p.M501I|NR2C2_ENST00000406272.2_Missense_Mutation_p.M482I|NR2C2_ENST00000393102.3_Missense_Mutation_p.M482I			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	482	Ligand-binding (By similarity).				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTAACAGCATGGCGAAGCTGG	0.463													5	101					0	0	0	0	A	15079580	G	A	15079580	3	1	12	1	0	0	0	0	1	0	0	0	10694	1348	47	4	1549	4	NR2C2	3	15079580	Missense_Mutation	SNP	G	TCGA-BA-5557-01A-01D-1512-08		15079580	182942850	8	2830											
MORC1	27136	broad.mit.edu	37	chr3	108688549	108688549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttcagctttttgttcatCtgctctgggcactgctccag	5	17	8	11	0	4	0	2	0	2	0	5	0	5	0	1	1	3	5	1	1	0	5			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:108688549C>G	ENST00000232603.5	-	26	2653	c.2571G>C	c.(2569-2571)caG>caC	p.Q857H	MORC1_ENST00000483760.1_Missense_Mutation_p.Q836H	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	857					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTTGTTCATCTGCTCTGGGC	0.363													5	101					0	0	0	0	G	108688549	C	G	108688549	3	3	12	1	0	0	0	0	1	0	0	0	9771	912	32	2	395	2	MORC1	3	108688549	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08	93608969	108688549	89333881	9	2831											
PLOD2	5352	broad.mit.edu	37	chr3	145788905	145788905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgatgaggacgaagagaaCgctgtcgttcaggggagtat	12	8	15	6	3	1	3	1	2	0	1	2	7	1	5	0	3	1	3	0	3	3	2			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:145788905C>T	ENST00000282903.5	-	19	2222	c.2045G>A	c.(2044-2046)cGt>cAt	p.R682H	PLOD2_ENST00000360060.3_Missense_Mutation_p.R661H|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.R627H|PLOD2_ENST00000461497.1_Missense_Mutation_p.R342H	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	661	Fe2OG dioxygenase.				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ACGAAGAGAACGCTGTCGTTC	0.348													6	34					0	0	0	0	T	145788905	C	T	145788905	3	4	12	1	0	0	0	0	1	0	0	0	12174	536	19	1	239	1	PLOD2	3	145788905	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08	37100356	145788905	52233525	10	2832											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	50					0	0	0	0	A	178936082	G	A	178936082	3	1	12	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-BA-5557-01A-01D-1512-08	33147177	178936082	19086348	11	2833											
SLC4A4	8671	broad.mit.edu	37	chr4	72425867	72425867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcttctcccagcacgacCtcagcttcctggatgatgtc	7	11	7	16	1	3	1	1	1	2	0	6	3	4	2	4	1	2	2	4	1	0	2			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr4:72425867C>A	ENST00000340595.3	+	20	3059	c.2863C>A	c.(2863-2865)Ctc>Atc	p.L955I	SLC4A4_ENST00000425175.1_Missense_Mutation_p.L999I|SLC4A4_ENST00000351898.6_Missense_Mutation_p.L915I|SLC4A4_ENST00000264485.5_Missense_Mutation_p.L999I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	999						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCAGCACGACCTCAGCTTCCT	0.413													24	109					3.99451e-17	4.38286e-17	1	0	A	72425867	C	A	72425867	3	1	12	1	0	0	0	0	1	0	0	0	14744	681	24	4	3202	4	SLC4A4	4	72425867	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08		72425867	118728409	12	2834											
GPR98	84059	broad.mit.edu	37	chr5	90087077	90087077	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcggatcataaagaacagCcgattgttaccgaaaatgca	16	8	8	9	3	1	1	1	0	0	1	2	4	1	2	2	1	4	2	2	1	6	3			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr5:90087077C>A	ENST00000405460.2	+	70	14527	c.14431C>A	c.(14431-14433)Ccg>Acg	p.P4811T	GPR98_ENST00000425867.2_Missense_Mutation_p.P472T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4811					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAAAGAACAGCCGATTGTTAC	0.443													3	17					1	1	1	0	A	90087077	C	A	90087077	3	1	12	1	0	0	0	0	1	0	0	0	6771	739	26	4	14709	4	GPR98	5	90087077	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08		90087077	90828183	13	2835											
ERAP2	64167	broad.mit.edu	37	chr5	96222495	96222495	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcatcaggggtcaaggTgagactgagttctaacgttc	10	11	11	9	1	4	2	3	2	1	1	5	3	4	2	0	3	1	2	0	3	2	4			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr5:96222495T>A	ENST00000437043.3	+	4	1560		c.e4+2		CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Intron|ERAP2_ENST00000510309.1_Splice_Site	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2						antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGGGTCAAGGTGAGACTGAGT	0.378													12	77					0	0	0	0	A	96222495	T	A	96222495	5	1	12	1	0	0	0	0	0	0	1	0	5242	1710	59	5	861	5	ERAP2	5	96222495	Splice_Site	SNP	T	TCGA-BA-5557-01A-01D-1512-08	6135418	96222495	84692765	14	2836											
PCDHB13	56123	broad.mit.edu	37	chr5	140595010	140595010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacacagctcaatatgaccGtgctgatcgccgatgtcaat	12	10	8	11	3	2	2	2	2	0	0	3	3	2	2	2	0	3	2	2	0	4	2			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr5:140595010G>A	ENST00000341948.4	+	1	1502	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		439	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATATGACCGTGCTGATCGC	0.547													18	102					0	0	0	0	A	140595010	G	A	140595010	3	1	12	1	0	0	0	0	1	0	0	0	11609	1145	40	1	1317	1	PCDHB13	5	140595010	Missense_Mutation	SNP	G	TCGA-BA-5557-01A-01D-1512-08	44372515	140595010	40320250	15	2837											
BMP6	654	broad.mit.edu	37	chr6	7845405	7845405	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagttctcccctcgtcagCgacaccacaaagagttcaag	12	7	9	13	2	3	1	2	0	1	1	5	3	3	2	3	1	1	2	3	1	2	2			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr6:7845405C>T	ENST00000283147.6	+	2	856	c.697C>T	c.(697-699)Cga>Tga	p.R233*		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	233					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCCTCGTCAGCGACACCACAA	0.483													4	105					0	0	0	0	T	7845405	C	T	7845405	4	4	12	1	0	0	0	0	0	1	0	0	1469	760	27	1	703	1	BMP6	6	7845405	Nonsense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08		7845405	163269662	16	2838											
PAPOLB	56903	broad.mit.edu	37	chr7	4899722	4899722	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacctgttgcaaggaaaattCagtagcctgtatgttagcca	12	11	9	9	0	1	0	1	0	0	0	1	1	1	1	3	1	3	5	3	1	6	5			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr7:4899722C>G	ENST00000404991.1	-	1	1903	c.1717G>C	c.(1717-1719)Gaa>Caa	p.E573Q	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	573					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAGGAAAATTCAGTAGCCTGT	0.458													5	53					0	0	0	0	G	4899722	C	G	4899722	3	3	12	1	0	0	0	0	1	0	0	0	11501	835	29	2	197	2	PAPOLB	7	4899722	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08		4899722	154238941	17	2839											
PRKRIP1	79706	broad.mit.edu	37	chr7	102040012	102040012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggttcaagtgctggggccGgcagtggagagttccacgtg	7	8	17	9	2	1	1	1	0	0	1	2	2	2	1	2	5	1	4	2	5	1	2			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr7:102040012G>A	ENST00000496391.1	+	7	1533	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	PRKRIP1_ENST00000397912.3_Missense_Mutation_p.G75S|PRKRIP1_ENST00000462601.1_Missense_Mutation_p.G18S|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.G37S|PRKRIP1_ENST00000482465.1_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	75	Required for RNA-binding (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						TGCTGGGGCCGGCAGTGGAGA	0.512													19	115					0	0	0	0	A	102040012	G	A	102040012	3	1	12	1	0	0	0	0	1	0	0	0	12605	1116	39	1	233	1	PRKRIP1	7	102040012	Missense_Mutation	SNP	G	TCGA-BA-5557-01A-01D-1512-08	97140290	102040012	57098651	18	2840											
CALD1	800	broad.mit.edu	37	chr7	134644737	134644737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatttcagggaacaaaaagcGcaaaacctacaaagccggca	19	4	8	10	2	1	0	1	0	0	0	1	1	1	1	2	2	5	2	2	2	8	2			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr7:134644737G>A	ENST00000361388.2	+	12	1853	c.1387G>A	c.(1387-1389)Gca>Aca	p.A463T	CALD1_ENST00000417172.1_Missense_Mutation_p.A437T|CALD1_ENST00000393118.2_Missense_Mutation_p.A457T|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000543443.1_Missense_Mutation_p.A442T|CALD1_ENST00000361675.2_Missense_Mutation_p.A692T|CALD1_ENST00000422748.1_Missense_Mutation_p.A462T|CALD1_ENST00000361901.2_Missense_Mutation_p.A437T|CALD1_ENST00000424922.1_Missense_Mutation_p.A431T|CALD1_ENST00000495522.1_Missense_Mutation_p.A456T	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	692					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AACAAAAAGCGCAAAACCTAC	0.418													3	40					0	0	0	0	A	134644737	G	A	134644737	3	1	12	1	0	0	0	0	1	0	0	0	2606	1087	38	1	2169	1	CALD1	7	134644737	Missense_Mutation	SNP	G	TCGA-BA-5557-01A-01D-1512-08	32604725	134644737	24493926	19	2841											
IKBKB	3551	broad.mit.edu	37	chr8	42147786	42147786	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccaaggaggagatctcCggaaggtgaggctcccacgg	10	5	15	11	2	1	2	0	1	1	1	3	5	2	4	3	6	1	1	3	6	2	0			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr8:42147786C>G	ENST00000520810.1	+	4	499	c.313C>G	c.(313-315)Cgg>Ggg	p.R105G	IKBKB_ENST00000520835.1_Missense_Mutation_p.R103G|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.R46G|IKBKB_ENST00000519735.1_Missense_Mutation_p.R105G	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	105	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGGAGATCTCCGGAAGGTGAG	0.612													4	13					0	0	0	0	G	42147786	C	G	42147786	3	3	12	1	0	0	0	0	1	0	0	0	7664	643	23	3	323	3	IKBKB	8	42147786	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08		42147786	104216236	20	2842											
CDKN2A	1029	broad.mit.edu	37	chr9	21971110	21971110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctcccgggcagcgtcgTgcacgggtcgggtgagagtg	5	6	18	12	5	0	1	0	1	0	1	3	2	1	1	2	3	3	2	2	3	0	0			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr9:21971110T>C	ENST00000304494.5	-	2	518	c.248A>G	c.(247-249)cAc>cGc	p.H83R	CDKN2A_ENST00000361570.3_Silent_p.A138A|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32R|CDKN2A_ENST00000530628.2_Silent_p.A97A|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32R|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83R|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83R|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Silent_p.A97A|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83R|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32R|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.H83P(2)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)|p.H83R(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCAGCGTCGTGCACGGGTCG	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	14					0	0	0	0	C	21971110	T	C	21971110	3	2	12	1	0	0	0	0	1	0	0	0	3190	1696	59	5	230	5	CDKN2A	9	21971110	Missense_Mutation	SNP	T	TCGA-BA-5557-01A-01D-1512-08		21971110	119242321	21	2843											
OR52E2	119678	broad.mit.edu	37	chr11	5080386	5080386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtatagagggaatgaCgaaaattaaagccctcacaa	20	6	9	6	1	1	3	1	1	0	2	1	5	1	4	1	1	1	1	1	1	10	3			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:5080386C>T	ENST00000321522.2	-	1	471	c.472G>A	c.(472-474)Gtc>Atc	p.V158I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGGGAATGACGAAAATTAAA	0.453													4	20					0	0	0	0	T	5080386	C	T	5080386	3	4	12	1	0	0	0	0	1	0	0	0	11186	536	19	1	508	1	OR52E2	11	5080386	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08		5080386	129926130	22	2844											
CHST1	8534	broad.mit.edu	37	chr11	45671747	45671747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcggaaggtctcgctgcGcgaagccagaatgccgcggg	7	5	17	12	7	1	1	0	0	1	1	3	3	1	2	2	3	3	1	2	3	3	0			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:45671747G>A	ENST00000308064.2	-	4	1397	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	243					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GTCTCGCTGCGCGAAGCCAGA	0.657													4	66					0	0	0	0	A	45671747	G	A	45671747	3	1	12	1	0	0	0	0	1	0	0	0	3426	1087	38	1	512	1	CHST1	11	45671747	Missense_Mutation	SNP	G	TCGA-BA-5557-01A-01D-1512-08	40591361	45671747	89334769	23	2845											
OR8J3	81168	broad.mit.edu	37	chr11	55904529	55904529	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtatccttagaatggacaaAacaatattgaaataagatac	19	10	6	6	1	0	3	0	1	0	2	1	4	1	4	1	1	2	1	1	1	10	6			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:55904529A>T	ENST00000301529.1	-	1	665	c.666T>A	c.(664-666)gtT>gtA	p.V222V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAATGGACAAAACAATATTGA	0.373													5	89					0	0	0	0	T	55904529	A	T	55904529	2	4	12	1	0	0	0	0	0	0	0	1	11313	1	1	5		5	OR8J3	11	55904529	Silent	SNP	A	TCGA-BA-5557-01A-01D-1512-08	10232782	55904529	79101987	24	2846											
BBS1	582	broad.mit.edu	37	chr11	66278499	66278499	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagcaatgaggccaattcGaagtggttggatgcgcacta	11	9	12	9	2	0	1	0	1	0	0	2	3	1	2	2	3	2	3	2	3	4	3			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:66278499G>A	ENST00000419755.3	+	2	252	c.174G>A	c.(172-174)tcG>tcA	p.S58S	BBS1_ENST00000455748.2_Silent_p.S21S|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Silent_p.S21S|BBS1_ENST00000537537.1_5'UTR|BBS1_ENST00000393994.2_Silent_p.S21S																							AGGCCAATTCGAAGTGGTTGG	0.527													19	210					0	0	0	0	A	66278499	G	A	66278499	2	1	12	1	0	0	0	0	0	0	0	1	1339	1045	37	1		1	BBS1	11	66278499	Silent	SNP	G	TCGA-BA-5557-01A-01D-1512-08	10373970	66278499	68728017	25	2847											
GRAMD1B	57476	broad.mit.edu	37	chr11	123481027	123481027	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgctcacccgtgtggctCggaacaagagccgactcagg	10	5	12	14	4	2	1	2	0	0	1	3	3	2	2	2	3	2	2	2	3	2	0			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:123481027C>A	ENST00000529750.1	+	13	1798	c.1471C>A	c.(1471-1473)Cgg>Agg	p.R491R	GRAMD1B_ENST00000456860.2_Silent_p.R498R|GRAMD1B_ENST00000450171.2_Silent_p.R182R|GRAMD1B_ENST00000322282.7_Silent_p.R491R	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	491						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCGTGTGGCTCGGAACAAGAG	0.542													6	98					0.217242	0.220027	1	0	A	123481027	C	A	123481027	2	1	12	1	0	0	0	0	0	0	0	1	6798	875	31	3		3	GRAMD1B	11	123481027	Silent	SNP	C	TCGA-BA-5557-01A-01D-1512-08	57202528	123481027	11525489	26	2848											
IGSF9B	22997	broad.mit.edu	37	chr11	133791120	133791120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcctctgccttggccaCgctgtacttcttgctgctga	3	13	10	15	2	2	1	0	1	2	0	3	1	2	1	3	2	4	4	3	2	1	4			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:133791120C>T	ENST00000321016.8	-	18	2730	c.2500G>A	c.(2500-2502)Gtg>Atg	p.V834M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V834M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	834						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCTTGGCCACGCTGTACTTC	0.657													3	40					0	0	0	0	T	133791120	C	T	133791120	3	4	12	1	0	0	0	0	1	0	0	0	7659	536	19	1	1557	1	IGSF9B	11	133791120	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08	10310093	133791120	1215396	27	2849											
KCNA6	3742	broad.mit.edu	37	chr12	4920108	4920108	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatcatgaacatcattgacTtggtggctatcttcccctac	10	13	6	12	0	3	2	2	2	1	0	4	2	4	2	2	2	2	1	2	2	3	5			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:4920108T>C	ENST00000433855.1	+	1	1767	c.901T>C	c.(901-903)Ttg>Ctg	p.L301L	KCNA6_ENST00000280684.3_Silent_p.L301L	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	301						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CATCATTGACTTGGTGGCTAT	0.582										HNSCC(72;0.22)			23	63					0	0	0	0	C	4920108	T	C	4920108	2	2	12	1	0	0	0	0	0	0	0	1	8060	1606	56	5		5	KCNA6	12	4920108	Silent	SNP	T	TCGA-BA-5557-01A-01D-1512-08		4920108	128931787	28	2850											
PZP	5858	broad.mit.edu	37	chr12	9318713	9318713	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcaccgtttcagggactggCcctgaactttgttcattatt	7	14	9	11	2	2	1	2	1	0	0	2	2	2	2	2	2	1	3	2	2	2	5			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:9318713C>A	ENST00000261336.2	-	18	2221	c.2193G>T	c.(2191-2193)ggG>ggT	p.G731G	PZP_ENST00000381997.2_Silent_p.G600G|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CAGGGACTGGCCCTGAACTTT	0.428													14	104					6.31663e-08	6.74343e-08	1	0	A	9318713	C	A	9318713	2	1	12	1	0	0	0	0	0	0	0	1	12951	726	26	4		4	PZP	12	9318713	Silent	SNP	C	TCGA-BA-5557-01A-01D-1512-08	4398605	9318713	124533182	29	2851											
TMEM120B	144404	broad.mit.edu	37	chr12	122211410	122211410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagaggaaccacctggatCtcacagtgggtgagtagctg	10	7	16	8	0	1	2	1	1	1	1	2	5	1	4	2	4	2	2	2	4	2	1			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:122211410C>G	ENST00000449592.2	+	9	864	c.763C>G	c.(763-765)Ctc>Gtc	p.L255V	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	255						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CCACCTGGATCTCACAGTGGG	0.652											OREG0022206	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	18					0	0	0	0	G	122211410	C	G	122211410	3	3	12	1	0	0	0	0	1	0	0	0	16128	913	32	2	797	2	TMEM120B	12	122211410	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08	112892697	122211410	11640485	30	2852											
PITPNM2	57605	broad.mit.edu	37	chr12	123482002	123482002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggcgatggtgttagcatCgcccttcttggagctggggt	4	13	16	8	2	1	0	0	0	1	0	2	2	1	1	1	5	2	4	1	5	1	4			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:123482002C>T	ENST00000280562.5	-	10	1547	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	PITPNM2_ENST00000320201.4_Missense_Mutation_p.D448N|PITPNM2_ENST00000392428.1_Missense_Mutation_p.D169N|PITPNM2_ENST00000542749.1_Missense_Mutation_p.D448N			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	448					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGTTAGCATCGCCCTTCTTG	0.682													12	89					0	0	0	0	T	123482002	C	T	123482002	3	4	12	1	0	0	0	0	1	0	0	0	12023	884	31	1	2771	1	PITPNM2	12	123482002	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08	1270592	123482002	10369893	31	2853											
GOLGA6A	342096	broad.mit.edu	37	chr15	74368258	74368258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgtgtcacgtgtgcgttCagcagcgcccgctcctttat	5	12	10	14	4	2	0	2	0	0	0	3	0	3	0	3	0	3	3	3	0	1	3			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr15:74368258C>T	ENST00000290438.3	-	8	673	c.633G>A	c.(631-633)ctG>ctA	p.L211L		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	211										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						CGTGTGCGTTCAGCAGCGCCC	0.582													5	76					0	0	0	0	T	74368258	C	T	74368258	2	4	12	1	0	0	0	0	0	0	0	1	6608	813	29	2		2	GOLGA6A	15	74368258	Silent	SNP	C	TCGA-BA-5557-01A-01D-1512-08		74368258	28163134	32	2854											
ABCC11	85320	broad.mit.edu	37	chr16	48211016	48211016	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgtaaaggagcttccgaGacacacatcttgtttttgaa	12	13	9	7	1	1	2	0	1	1	1	2	4	2	3	1	1	1	3	1	1	3	5			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr16:48211016G>A	ENST00000394747.1	-	24	3706	c.3357C>T	c.(3355-3357)gtC>gtT	p.V1119V	ABCC11_ENST00000356608.2_Silent_p.V1119V|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.V1119V|ABCC11_ENST00000353782.5_Silent_p.V1119V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1119						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GAGCTTCCGAGACACACATCT	0.483													5	54					0	0	0	0	A	48211016	G	A	48211016	2	1	12	1	0	0	0	0	0	0	0	1	51	929	33	2		2	ABCC11	16	48211016	Silent	SNP	G	TCGA-BA-5557-01A-01D-1512-08		48211016	42143737	33	2855											
HIC1	3090	broad.mit.edu	37	chr17	1960080	1960080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttcttgtgcgacgtgatcatCgtggtgcagaacgccctctt	6	13	11	11	4	3	2	1	1	2	1	4	3	3	2	1	1	3	1	1	1	1	3			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:1960080C>G	ENST00000399849.2	+	2	256	c.96C>G	c.(94-96)atC>atG	p.I32M	HIC1_ENST00000322941.3_Missense_Mutation_p.I51M	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	51					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		ACGTGATCATCGTGGTGCAGA	0.632													5	30					0	0	0	0	G	1960080	C	G	1960080	3	3	12	1	0	0	0	0	1	0	0	0	7151	874	31	3	159	3	HIC1	17	1960080	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08		1960080	79235130	34	2856											
ZNF232	7775	broad.mit.edu	37	chr17	5012303	5012303	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcccagagattccttcttCtcccatggctcttcctgtgc	4	14	7	16	0	3	1	0	0	3	1	7	2	6	1	4	1	1	2	4	1	0	4			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:5012303C>T	ENST00000250076.3	-	4	1197	c.543G>A	c.(541-543)gaG>gaA	p.E181E	ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000575898.1_Silent_p.E181E|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	154					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						ATTCCTTCTTCTCCCATGGCT	0.532													12	150					0	0	0	0	T	5012303	C	T	5012303	2	4	12	1	0	0	0	0	0	0	0	1	17880	912	32	2		2	ZNF232	17	5012303	Silent	SNP	C	TCGA-BA-5557-01A-01D-1512-08	3052223	5012303	76182907	35	2857											
TP53	7157	broad.mit.edu	37	chr17	7578247	7578247	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccaaatactccacacgcAaatttccttccactcggata	13	10	3	15	2	0	0	0	0	0	0	5	1	4	1	4	1	1	1	4	1	4	4			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:7578247A>T	ENST00000420246.2	-	6	734	c.602T>A	c.(601-603)tTg>tAg	p.L201*	TP53_ENST00000455263.2_Nonsense_Mutation_p.L201*|TP53_ENST00000269305.4_Nonsense_Mutation_p.L201*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.L201*|TP53_ENST00000359597.4_Nonsense_Mutation_p.L201*|TP53_ENST00000445888.2_Nonsense_Mutation_p.L201*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	201	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; somatic mutation).|LR -> FC (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.N200fs*4(1)|p.L201P(1)|p.L201S(1)|p.E198fs*7(1)|p.L201fs*46(1)|p.P191fs*6(1)|p.G199fs*42(1)|p.L201*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCCACACGCAAATTTCCTTC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	43					0	0	0	0	T	7578247	A	T	7578247	4	4	12	1	0	0	0	0	0	1	0	0	16476	131	5	5	692	5	TP53	17	7578247	Nonsense_Mutation	SNP	A	TCGA-BA-5557-01A-01D-1512-08	2565944	7578247	73616963	36	2858											
NF1	4763	broad.mit.edu	37	chr17	29557872	29557872	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctataggaataagatggtAgaatacctgacagactgggt	14	11	11	5	0	1	4	0	1	1	3	1	5	1	5	1	3	1	1	1	3	7	6			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:29557872A>G	ENST00000358273.4	+	24	3509	c.3126A>G	c.(3124-3126)gtA>gtG	p.V1042V	NF1_ENST00000356175.3_Silent_p.V1042V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1042					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.V1042fs*17(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATAAGATGGTAGAATACCTGA	0.368			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	34					0	0	0	0	G	29557872	A	G	29557872	2	3	12	1	0	0	0	0	0	0	0	1	10426	407	15	5		5	NF1	17	29557872	Silent	SNP	A	TCGA-BA-5557-01A-01D-1512-08	21979625	29557872	51637338	37	2859											
PITPNC1	26207	broad.mit.edu	37	chr17	65548417	65548417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgtccccaaaatattttAtgtgacagagaaggcttgga	12	13	10	6	0	0	2	0	1	0	1	1	4	1	3	2	2	0	2	2	2	5	5			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:65548417A>G	ENST00000580974.1	+	3	938	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	PITPNC1_ENST00000299954.9_Missense_Mutation_p.Y81C|PITPNC1_ENST00000581322.1_Missense_Mutation_p.Y81C|PITPNC1_ENST00000335257.6_Missense_Mutation_p.Y81C	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	81					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AAAATATTTTATGTGACAGAG	0.413													8	63					0	0	0	0	G	65548417	A	G	65548417	3	3	12	1	0	0	0	0	1	0	0	0	12021	449	16	5	252	5	PITPNC1	17	65548417	Missense_Mutation	SNP	A	TCGA-BA-5557-01A-01D-1512-08	35990545	65548417	15646793	38	2860											
PLEKHG2	64857	broad.mit.edu	37	chr19	39913429	39913429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaggtgcctggcgacagcGaaaccctcacattccaagcc	10	5	9	17	2	1	0	1	0	0	0	2	2	2	0	5	2	4	0	5	2	2	1			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:39913429G>A	ENST00000425673.1	+	16	1973	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.E579K|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E520K			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	579					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGCGACAGCGAAACCCTCAC	0.587													4	57					0	0	0	0	A	39913429	G	A	39913429	3	1	12	1	0	0	0	0	1	0	0	0	12141	1059	37	1	1801	1	PLEKHG2	19	39913429	Missense_Mutation	SNP	G	TCGA-BA-5557-01A-01D-1512-08		39913429	19215554	39	2861											
FGF21	26291	broad.mit.edu	37	chr19	49261276	49261276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgaagcccacggcctcccGctgcacctgccagggaacaa	9	4	10	18	3	0	0	0	0	0	0	2	2	2	1	6	2	4	2	6	2	3	0			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:49261276G>A	ENST00000593756.1	+	4	1001	c.429G>A	c.(427-429)ccG>ccA	p.P143P	FGF21_ENST00000222157.3_Silent_p.P143P			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	143					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ACGGCCTCCCGCTGCACCTGC	0.652													21	89					0	0	0	0	A	49261276	G	A	49261276	2	1	12	1	0	0	0	0	0	0	0	1	5895	1074	38	1		1	FGF21	19	49261276	Silent	SNP	G	TCGA-BA-5557-01A-01D-1512-08	9347847	49261276	9867707	40	2862											
PPP1R12C	54776	broad.mit.edu	37	chr19	55623923	55623923	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccgtcactgttgacggcGgcgatgttggccccgtggct	3	10	14	14	5	1	1	1	1	0	0	2	2	2	1	4	4	0	3	4	4	0	2			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:55623923G>A	ENST00000263433.3	-	3	498	c.483C>T	c.(481-483)gcC>gcT	p.A161A	PPP1R12C_ENST00000376393.2_Silent_p.A161A|PPP1R12C_ENST00000435544.2_Silent_p.A87A	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	161						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TGTTGACGGCGGCGATGTTGG	0.731													10	20					0	0	0	0	A	55623923	G	A	55623923	2	1	12	1	0	0	0	0	0	0	0	1	12432	1103	39	1		1	PPP1R12C	19	55623923	Silent	SNP	G	TCGA-BA-5557-01A-01D-1512-08	6362647	55623923	3505060	41	2863											
NLRP4	147945	broad.mit.edu	37	chr19	56369450	56369450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagactcttgttcgtcatcGacagcttcgaagagctgcag	10	10	11	10	3	2	2	1	0	1	2	5	5	2	2	0	0	3	4	0	0	1	3			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:56369450G>A	ENST00000301295.6	+	3	1113	c.691G>A	c.(691-693)Gac>Aac	p.D231N	NLRP4_ENST00000346986.5_Missense_Mutation_p.D231N|NLRP4_ENST00000587891.1_Missense_Mutation_p.D156N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	231	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTTCGTCATCGACAGCTTCGA	0.547													7	92					0	0	0	0	A	56369450	G	A	56369450	3	1	12	1	0	0	0	0	1	0	0	0	10549	1058	37	1	697	1	NLRP4	19	56369450	Missense_Mutation	SNP	G	TCGA-BA-5557-01A-01D-1512-08	745527	56369450	2759533	42	2864											
JAG1	182	broad.mit.edu	37	chr20	10626068	10626068	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagtcattgaccaggtcGcgacacgtgcccccattgtg	9	9	11	12	3	1	2	1	1	0	1	2	3	1	2	3	1	1	0	3	1	2	3			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:10626068G>A	ENST00000254958.5	-	16	2564	c.2049C>T	c.(2047-2049)cgC>cgT	p.R683R	JAG1_ENST00000423891.2_Silent_p.R524R|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	683	EGF-like 12; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGACCAGGTCGCGACACGTGC	0.502									Alagille Syndrome				18	89					0	0	0	0	A	10626068	G	A	10626068	2	1	12	1	0	0	0	0	0	0	0	1	7987	1074	38	1		1	JAG1	20	10626068	Silent	SNP	G	TCGA-BA-5557-01A-01D-1512-08		10626068	52399452	43	2865											
TRPC4AP	26133	broad.mit.edu	37	chr20	33593578	33593578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttggagtccaccagggagCtgttgatctgcttcaggaat	8	12	13	8	0	2	1	1	1	1	0	3	4	3	4	2	3	2	4	2	3	1	3			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:33593578C>T	ENST00000252015.2	-	16	1945	c.1856G>A	c.(1855-1857)aGc>aAc	p.S619N	TRPC4AP_ENST00000539834.1_Missense_Mutation_p.S221N|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.S611N|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.S580N			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	619					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CACCAGGGAGCTGTTGATCTG	0.547													4	93					0	0	0	0	T	33593578	C	T	33593578	3	4	12	1	0	0	0	0	1	0	0	0	16676	797	28	4	553	4	TRPC4AP	20	33593578	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08	22967510	33593578	29431942	44	2866											
PHF20	51230	broad.mit.edu	37	chr20	34519268	34519268	+	Missense_Mutation	SNP	G	G	C																															gaagagaactactcccatcaGaatgccaagaagatcgtggc																										TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:34519268G>C	ENST00000374012.3	+	15	2331	c.2202G>C	c.(2200-2202)caG>caC	p.Q734H	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ACTCCCATCAGAATGCCAAGA	0.517													7	79					0	0	0	0	C	34519268	G	C	34519268	3	2	12	1	0	0	0	0	1	0	0	0	11903	933	33	2	2256	2	PHF20	20	34519268	Missense_Mutation	SNP	G	TCGA-BA-5557-01A-01D-1512-08	925690	34519268	28506252	45	2867	33	2									
PHF20	51230	broad.mit.edu	37	chr20	34519277	34519277	+	Silent	SNP	G	G	A																															tactcccatcagaatgccaaGaagatcgtggccacccacca																										TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:34519277G>A	ENST00000374012.3	+	15	2340	c.2211G>A	c.(2209-2211)aaG>aaA	p.K737K	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AGAATGCCAAGAAGATCGTGG	0.522													7	81					0	0	0	0	A	34519277	G	A	34519277	2	1	12	1	0	0	0	0	0	0	0	1	11903	933	33	2		2	PHF20	20	34519277	Silent	SNP	G	TCGA-BA-5557-01A-01D-1512-08	9	34519277	28506243	46	2868	33	2									
SEMG2	6407	broad.mit.edu	37	chr20	43851115	43851115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagatcaagagcatggccGgaaggcacataaaatatcat	17	7	9	8	1	3	2	3	0	0	2	3	3	3	3	1	3	1	2	1	3	6	2	rs138747718	by1000genomes	TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:43851115G>A	ENST00000372769.3	+	2	932	c.842G>A	c.(841-843)cGg>cAg	p.R281Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	281	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GAGCATGGCCGGAAGGCACAT	0.403													3	74					0	0	0	0	A	43851115	G	A	43851115	3	1	12	1	0	0	0	0	1	0	0	0	14132	1116	39	1	848	1	SEMG2	20	43851115	Missense_Mutation	SNP	G	TCGA-BA-5557-01A-01D-1512-08	9331838	43851115	19174405	47	2869											
C20orf85	128602	broad.mit.edu	37	chr20	56728608	56728608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttttcaggaaataccGtctgaaggctgaatcggaag	11	13	10	7	2	3	2	1	2	2	0	4	4	3	4	1	3	1	1	1	3	5	4	rs16984945	byFrequency	TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:56728608G>A	ENST00000371168.3	+	2	138	c.77G>A	c.(76-78)cGt>cAt	p.R26H		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	26			R -> H (in dbSNP:rs16984945).					p.R26L(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AGGAAATACCGTCTGAAGGCT	0.483													21	173					0	0	0	0	A	56728608	G	A	56728608	3	1	12	1	0	0	0	0	1	0	0	0	2140	1145	40	1	83	1	C20orf85	20	56728608	Missense_Mutation	SNP	G	TCGA-BA-5557-01A-01D-1512-08	12877493	56728608	6296912	48	2870											
BAGE2	85319	broad.mit.edu	37	chr21	11056427	11056427	+	RNA	DEL	G	G	-																															gtctggaattacatatttttGgggggtctctctattatctt																								rs137953514		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr21:11056427delG	ENST00000470054.1	-	0	487									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		acatatttttggggggtctct	0.303													10	4	---	---	---	---					-	11056427	G	-	11056427	6	5	12	0	1	1	0	1	0	0	0	0	1296	1363	47	0		0	BAGE2	21	11056427	RNA	DEL	G	TCGA-BA-5557-01A-01D-1512-08		11056427	37073468	49	2871											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666941	19666941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttatggttacactgtaaccGaatcaaggaatcctgtaaac	14	12	7	8	1	1	0	1	0	0	0	2	2	2	1	2	2	3	3	2	2	8	5	rs140721787		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr21:19666941G>A	ENST00000284885.3	-	20	2323	c.2290C>T	c.(2290-2292)Cgg>Tgg	p.R764W		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	764	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACTGTAACCGAATCAAGGAA	0.284													7	101					0	0	0	0	A	19666941	G	A	19666941	3	1	12	1	0	0	0	0	1	0	0	0	16340	1057	37	1	793	1	TMPRSS15	21	19666941	Missense_Mutation	SNP	G	TCGA-BA-5557-01A-01D-1512-08	8610514	19666941	28462954	50	2872											
CCDC116	164592	broad.mit.edu	37	chr22	21989343	21989343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgtggcgcccactgccgcGacggccgtcctctgttcccc	2	8	11	20	6	1	0	0	0	1	0	4	1	4	0	7	2	1	1	7	2	0	1			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:21989343G>A	ENST00000292779.3	+	4	1152	c.991G>A	c.(991-993)Gac>Aac	p.D331N		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	331										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCACTGCCGCGACGGCCGTCC	0.657													6	41					0	0	0	0	A	21989343	G	A	21989343	3	1	12	1	0	0	0	0	1	0	0	0	2778	1058	37	1	1001	1	CCDC116	22	21989343	Missense_Mutation	SNP	G	TCGA-BA-5557-01A-01D-1512-08		21989343	29315223	51	2873											
CDC42EP1	11135	broad.mit.edu	37	chr22	37964720	37964720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgggagagcctggacgaaGagtggagggcgccccaggca	9	3	18	11	2	0	2	0	0	0	2	0	6	0	4	4	5	1	1	4	5	1	0			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:37964720G>C	ENST00000249014.4	+	3	1489	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	357					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCTGGACGAAGAGTGGAGGGC	0.647													4	3					0	0	0	0	C	37964720	G	C	37964720	3	2	12	1	0	0	0	0	1	0	0	0	3104	943	33	2	1075	2	CDC42EP1	22	37964720	Missense_Mutation	SNP	G	TCGA-BA-5557-01A-01D-1512-08	15975377	37964720	13339846	52	2874											
DNAJB7	150353	broad.mit.edu	37	chr22	41257532	41257532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgaaccctgtgatgtatatCctgtatcatatgaagaaaat	15	13	7	6	0	1	4	1	3	0	1	2	4	2	4	2	0	1	2	2	0	8	4			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:41257532C>T	ENST00000307221.4	-	1	598	c.467G>A	c.(466-468)gGa>gAa	p.G156E	XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	156					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TGATGTATATCCTGTATCATA	0.398													13	166					0	0	0	0	T	41257532	C	T	41257532	3	4	12	1	0	0	0	0	1	0	0	0	4661	855	30	2	466	2	DNAJB7	22	41257532	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08	3292812	41257532	10047034	53	2875											
PLXNB2	23654	broad.mit.edu	37	chr22	50720062	50720062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgggggctgcacctccGggggctcacagtacaggtcg	5	6	18	12	3	1	0	1	0	0	0	3	0	2	0	2	6	2	4	2	6	1	1			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:50720062G>A	ENST00000449103.1	-	21	3595	c.3455C>T	c.(3454-3456)cCg>cTg	p.P1152L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1152L			O15031	PLXB2_HUMAN	plexin B2	1152					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCACCTCCGGGGGCTCACA	0.677													3	38					0	0	0	0	A	50720062	G	A	50720062	3	1	12	1	0	0	0	0	1	0	0	0	12196	1116	39	1	2129	1	PLXNB2	22	50720062	Missense_Mutation	SNP	G	TCGA-BA-5557-01A-01D-1512-08	9462530	50720062	584504	54	2876											
CLCN4	1183	broad.mit.edu	37	chrX	10201608	10201608	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaaaccaggaccccgaatCcatcatgtttaattagcaac	14	8	7	12	1	1	0	1	0	0	0	2	2	2	1	4	2	3	3	4	2	5	3			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:10201608C>A	ENST00000380833.4	+	13	2658	c.2267C>A	c.(2266-2268)tCc>tAc	p.S756Y	CLCN4_ENST00000380829.1_Missense_Mutation_p.S725Y|CLCN4_ENST00000421085.2_Missense_Mutation_p.S662Y	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	756						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GACCCCGAATCCATCATGTTT	0.358													6	86					0.00198382	0.00203535	1	0	A	10201608	C	A	10201608	3	1	12	1	0	0	0	0	1	0	0	0	3495	855	30	2	2309	2	CLCN4	23	10201608	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08		10201608	145068952	55	2877											
HUWE1	10075	broad.mit.edu	37	chrX	53570870	53570870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtataatggcatcagcctCagcctccagctgccgaacag	10	9	9	13	1	2	0	2	0	0	0	3	1	3	0	4	1	5	3	4	1	3	3			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:53570870C>T	ENST00000342160.3	-	72	11768	c.11311G>A	c.(11311-11313)Gag>Aag	p.E3771K	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.E3771K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3771					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCATCAGCCTCAGCCTCCAGC	0.517													4	19					0	0	0	0	T	53570870	C	T	53570870	3	4	12	1	0	0	0	0	1	0	0	0	7514	835	29	2	1861	2	HUWE1	23	53570870	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08	43369262	53570870	101699690	56	2878											
WNK3	65267	broad.mit.edu	37	chrX	54335724	54335724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccttaagacctttggtttCatgactttaaatcgttttaa	10	18	5	8	1	1	2	1	1	0	1	3	2	2	2	2	1	0	2	2	1	4	7			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:54335724C>T	ENST00000354646.2	-	4	1173	c.735G>A	c.(733-735)atG>atA	p.M245I	WNK3_ENST00000375159.2_Missense_Mutation_p.M245I|WNK3_ENST00000375169.3_Missense_Mutation_p.M245I	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	245	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CCTTTGGTTTCATGACTTTAA	0.368													5	48					0	0	0	0	T	54335724	C	T	54335724	3	4	12	1	0	0	0	0	1	0	0	0	17475	826	29	2	4751	2	WNK3	23	54335724	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08	764854	54335724	100934836	57	2879											
HEPH	9843	broad.mit.edu	37	chrX	65411985	65411985	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagatggcatgcaggcActctacaaggtcaagtcttg	10	10	10	11	0	4	1	2	0	2	1	4	1	4	1	1	3	2	3	1	3	3	3			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:65411985A>C	ENST00000519389.1	+	7	1418	c.1239A>C	c.(1237-1239)gcA>gcC	p.A413A	HEPH_ENST00000374727.3_Silent_p.A362A|HEPH_ENST00000336279.5_Silent_p.A92A|HEPH_ENST00000441993.2_Silent_p.A362A|HEPH_ENST00000343002.2_Silent_p.A359A|HEPH_ENST00000419594.1_Silent_p.A362A			Q9BQS7	HEPH_HUMAN	hephaestin	359	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCATGCAGGCACTCTACAAGG	0.488													13	52					0	0	0	0	C	65411985	A	C	65411985	2	2	12	1	0	0	0	0	0	0	0	1	7104	146	6	5		5	HEPH	23	65411985	Silent	SNP	A	TCGA-BA-5557-01A-01D-1512-08	11076261	65411985	89858575	58	2880											
BHLHB9	80823	broad.mit.edu	37	chrX	102004645	102004645	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccaggcaccatctgaggCaagccctccttcatatattg	10	10	7	14	0	2	1	1	1	1	0	4	1	4	1	4	2	1	2	4	2	3	4			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:102004645C>A	ENST00000372735.1	+	4	1307	c.722C>A	c.(721-723)gCa>gAa	p.A241E	BHLHB9_ENST00000361229.4_Missense_Mutation_p.A241E|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A241E|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A241E|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A241E			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	241						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCATCTGAGGCAAGCCCTCCT	0.517													16	151					6.31663e-08	6.74343e-08	1	0	A	102004645	C	A	102004645	3	1	12	1	0	0	0	0	1	0	0	0	1425	710	25	4	724	4	BHLHB9	23	102004645	Missense_Mutation	SNP	C	TCGA-BA-5557-01A-01D-1512-08	36592660	102004645	53265915	59	2881											
SEPT6	23157	broad.mit.edu	37	chrX	118797579	118797579	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgtgtgggtggctggctcCccttcgaatttggtgttgaa	4	15	15	7	1	0	1	0	1	0	0	2	2	1	1	2	4	0	3	2	4	2	3			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:118797579C>T	ENST00000394610.1	-	3	471	c.207G>A	c.(205-207)ggG>ggA	p.G69G	SEPT6_ENST00000489216.1_Silent_p.G69G|SEPT6_ENST00000394617.2_Silent_p.G99G|SEPT6_ENST00000354416.3_Silent_p.G69G|SEPT6_ENST00000343984.5_Silent_p.G69G|SEPT6_ENST00000394616.4_Silent_p.G11G|SEPT6_ENST00000360156.7_Silent_p.G69G|SEPT6_ENST00000354228.4_Silent_p.G69G	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	69					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TGGCTGGCTCCCCTTCGAATT	0.507			T	MLL	AML								73	289					0	0	0	0	T	118797579	C	T	118797579	2	4	12	1	0	0	0	0	0	0	0	1	14155	610	22	4		4	SEPT6	23	118797579	Silent	SNP	C	TCGA-BA-5557-01A-01D-1512-08	16792934	118797579	36472981	60	2882											
SPANXN4	441525	broad.mit.edu	37	chrX	142121809	142121811	+	Splice_Site	DEL	AGA	AGA	-																															cctctccctgtttttttaccAgaagaagaagaatctgcaca																								rs78094296		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:142121809_142121811delAGA	ENST00000446864.1	+	2	175_176	c.78_splice	c.e2-1	p.K28_splice	SPANXN4_ENST00000370504.3_Intron	NM_001009613.2	NP_001009613.1	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	28										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTTTTACCAGAAGAAGAAGAA	0.414													6	5	---	---	---	---					-	142121811	AGA	-	142121809	8	5	12	1	0	1	0	1	0	0	1	0	15083	202	7	0	83	0	SPANXN4	23	142121809	Splice_Site	DEL	AGA	TCGA-BA-5557-01A-01D-1512-08	23324230	142121809	13148751	61	2883											
VBP1	7411	broad.mit.edu	37	chrX	154467052	154467052	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctttgacaattcttgcaGatatggccagggtttataat	10	17	8	6	0	2	2	0	1	2	1	2	2	2	2	1	2	1	2	1	2	4	8			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:154467052G>C	ENST00000286428.5	+	6	640		c.e6-1		VBP1_ENST00000459836.1_Splice_Site|VBP1_ENST00000535916.1_Splice_Site	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1						'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding			NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATTCTTGCAGATATGGCCAG	0.338													10	191					0	0	0	0	C	154467052	G	C	154467052	5	2	12	1	0	0	0	0	0	0	1	0	17232	956	33	2	545	2	VBP1	23	154467052	Splice_Site	SNP	G	TCGA-BA-5557-01A-01D-1512-08	12345243	154467052	803508	62	2884											
PRDM16	63976	broad.mit.edu	37	chr1	3342265	3342265	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccgctgcttcgggcagcaGaccaacctggaccggcacct	9	5	11	16	3	0	1	0	0	0	1	1	2	0	2	5	3	4	5	5	3	2	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:3342265G>A	ENST00000378398.3	+	14	3142	c.3060G>A	c.(3058-3060)caG>caA	p.Q1020Q	PRDM16_ENST00000378391.2_Silent_p.Q1020Q|PRDM16_ENST00000442529.2_Silent_p.Q1019Q|PRDM16_ENST00000441472.2_Silent_p.Q1019Q|PRDM16_ENST00000514189.1_Silent_p.Q1020Q|PRDM16_ENST00000511072.1_Silent_p.Q1021Q|PRDM16_ENST00000270722.5_Silent_p.Q1020Q|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1020	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TCGGGCAGCAGACCAACCTGG	0.647			T	EVI1	"MDS, AML"								24	104					0	0	0	0	A	3342265	G	A	3342265	2	1	13	1	0	0	0	0	0	0	0	1	12537	933	33	2		2	PRDM16	1	3342265	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08		3342265	245908356	1	2885											
PRAMEF7	441871	broad.mit.edu	37	chr1	12979810	12979810	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtcacgctgacccatttCagccctgagcccctcacagg	7	8	10	16	1	3	2	3	2	0	0	3	2	3	2	4	2	2	1	4	2	0	1	rs144939857		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:12979810C>T	ENST00000361079.2	+	4	1085	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGACCCATTTCAGCCCTGAGC	0.577													49	269					0	0	0	0	T	12979810	C	T	12979810	2	4	13	1	0	0	0	0	0	0	0	1	12518	825	29	2		2	PRAMEF7	1	12979810	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	9637545	12979810	236270811	2	2886											
PLEKHM2	23207	broad.mit.edu	37	chr1	16046258	16046258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctagacctggccccctaCatgcccgactactacaaacc	11	7	5	18	1	0	1	0	0	0	1	0	2	0	1	6	1	6	0	6	1	6	5			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:16046258C>T	ENST00000375799.3	+	6	722	c.495C>T	c.(493-495)taC>taT	p.Y165Y	PLEKHM2_ENST00000375793.2_Silent_p.Y165Y	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	165	Interaction with KIF5B.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TGGCCCCCTACATGCCCGACT	0.587													14	83					0	0	0	0	T	16046258	C	T	16046258	2	4	13	1	0	0	0	0	0	0	0	1	12153	489	17	4		4	PLEKHM2	1	16046258	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	3066448	16046258	233204363	3	2887											
UBR4	23352	broad.mit.edu	37	chr1	19487411	19487411	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatcagtcagccccacCtggttctgtaattcctcccg	7	10	9	15	1	3	0	2	0	1	0	5	1	5	1	5	2	2	3	5	2	1	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:19487411C>T	ENST00000375267.2	-	38	5409	c.5406_splice	c.e38+1	p.Q1802_splice	UBR4_ENST00000375254.3_Splice_Site_p.Q1802_splice|UBR4_ENST00000375217.2_Splice_Site_p.Q1802_splice|UBR4_ENST00000375226.2_Splice_Site_p.Q1802_splice			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1802					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAGCCCCACCTGGTTCTGTA	0.512													12	36					0	0	0	0	T	19487411	C	T	19487411	5	4	13	1	0	0	0	0	0	0	1	0	17000	695	24	4	10421	4	UBR4	1	19487411	Splice_Site	SNP	C	TCGA-BA-5558-01A-01D-1512-08	3441153	19487411	229763210	4	2888											
ALPL	249	broad.mit.edu	37	chr1	21903944	21903944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccacggcggggaggacgtgGccgtcttctccaagggcccc	5	5	15	16	4	2	0	0	0	2	0	3	2	2	2	5	6	0	0	5	6	1	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:21903944G>T	ENST00000374840.3	+	12	1628	c.1378G>T	c.(1378-1380)Gcc>Tcc	p.A460S	ALPL_ENST00000540617.1_Missense_Mutation_p.A405S|ALPL_ENST00000425315.2_Missense_Mutation_p.A460S|ALPL_ENST00000539907.1_Missense_Mutation_p.A383S|ALPL_ENST00000374829.1_Missense_Mutation_p.A106S|ALPL_ENST00000374830.1_Missense_Mutation_p.A106S|ALPL_ENST00000374832.1_Missense_Mutation_p.A460S	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	460					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GGAGGACGTGGCCGTCTTCTC	0.667													7	66					2.7689e-08	2.9459e-08	1	0	T	21903944	G	T	21903944	3	4	13	1	0	0	0	0	1	0	0	0	547	1203	42	4	1420	4	ALPL	1	21903944	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	2416533	21903944	227346677	5	2889											
NRD1	4898	broad.mit.edu	37	chr1	52280475	52280475	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttccaccaaacagtgcaaGagcccagcatctacaggtgg	13	7	9	12	0	1	1	0	0	1	1	2	1	2	1	3	2	5	2	3	2	3	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:52280475G>C	ENST00000354831.7	-	14	1843	c.1654C>G	c.(1654-1656)Ctt>Gtt	p.L552V	NRD1_ENST00000352171.7_Missense_Mutation_p.L484V|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.L420V|NRD1_ENST00000544028.1_Missense_Mutation_p.L352V	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	483					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AACAGTGCAAGAGCCCAGCAT	0.378													11	54					0	0	0	0	C	52280475	G	C	52280475	3	2	13	1	0	0	0	0	1	0	0	0	10716	942	33	2	2085	2	NRD1	1	52280475	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	30376531	52280475	196970146	6	2890											
C1orf168	199920	broad.mit.edu	37	chr1	57254662	57254662	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttccccctgagtcttGggaacagcagctggctgcct	6	11	10	14	0	1	1	0	1	1	0	2	2	2	2	4	2	5	3	4	2	2	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:57254662G>A	ENST00000343433.6	-	3	983	c.903C>T	c.(901-903)ccC>ccT	p.P301P	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	301										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						CCTGAGTCTTGGGAACAGCAG	0.602													38	158					0	0	0	0	A	57254662	G	A	57254662	2	1	13	1	0	0	0	0	0	0	0	1	2031	1335	47	4		4	C1orf168	1	57254662	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	4974187	57254662	191995959	7	2891											
WLS	79971	broad.mit.edu	37	chr1	68659750	68659750	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaacagaaaacacgatGtcattggcttcaatttccct	13	12	7	9	1	2	2	2	1	0	1	3	3	3	2	1	1	2	1	1	1	4	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:68659750G>A	ENST00000262348.4	-	2	520	c.267C>T	c.(265-267)gaC>gaT	p.D89D	WLS_ENST00000354777.2_Silent_p.D87D|WLS_ENST00000540432.1_Silent_p.D89D|WLS_ENST00000370971.1_Silent_p.D89D|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000370976.3_Intron|GNG12-AS1_ENST00000413628.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	89					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						AAAACACGATGTCATTGGCTT	0.463													18	86					0	0	0	0	A	68659750	G	A	68659750	2	1	13	1	0	0	0	0	0	0	0	1	17472	1368	48	4		4	WLS	1	68659750	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	11405088	68659750	180590871	8	2892											
MTMR11	10903	broad.mit.edu	37	chr1	149905309	149905309	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattctcaccaggcaggcaGagggccctcagcctcaggtg	8	8	12	13	0	3	1	3	0	1	1	4	1	3	1	3	4	1	2	3	4	1	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:149905309G>A	ENST00000439741.2	-	10	1225	c.975C>T	c.(973-975)ctC>ctT	p.L325L	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Silent_p.L253L|MTMR11_ENST00000406732.3_Silent_p.L297L	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	325	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CAGGCAGGCAGAGGGCCCTCA	0.557													57	188					0	0	0	0	A	149905309	G	A	149905309	2	1	13	1	0	0	0	0	0	0	0	1	10010	929	33	2		2	MTMR11	1	149905309	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	81245559	149905309	99345312	9	2893											
ARNT	405	broad.mit.edu	37	chr1	150808789	150808789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgaagtggaaagctgctCacgaagtttatccacatcat	12	12	8	9	1	3	1	2	1	1	0	4	3	4	2	1	1	2	3	1	1	4	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:150808789C>T	ENST00000358595.5	-	7	867	c.667G>A	c.(667-669)Gag>Aag	p.E223K	ARNT_ENST00000515192.1_Missense_Mutation_p.E214K|ARNT_ENST00000505755.1_Missense_Mutation_p.E208K|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Missense_Mutation_p.E223K	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	223	PAS 1.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAAAGCTGCTCACGAAGTTTA	0.448			T	ETV6	AML								28	84					0	0	0	0	T	150808789	C	T	150808789	3	4	13	1	0	0	0	0	1	0	0	0	969	835	29	2	1766	2	ARNT	1	150808789	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	903480	150808789	98441832	10	2894											
MRPL9	65005	broad.mit.edu	37	chr1	151732598	151732598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtacttatatcttttggtCttgggcttctcaaagttcac	8	17	7	9	0	4	0	2	0	3	0	5	0	4	0	0	2	1	3	0	2	4	8			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:151732598C>A	ENST00000368830.3	-	7	816	c.732G>T	c.(730-732)aaG>aaT	p.K244N	MRPL9_ENST00000467306.1_5'UTR|MRPL9_ENST00000368829.3_Missense_Mutation_p.K210N	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	244					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCTTTTGGTCTTGGGCTTCT	0.493													25	70					1.64293e-13	1.81423e-13	1	0	A	151732598	C	A	151732598	3	1	13	1	0	0	0	0	1	0	0	0	9890	912	32	2	75	2	MRPL9	1	151732598	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	923809	151732598	97518023	11	2895											
ATP8B2	57198	broad.mit.edu	37	chr1	154309988	154309988	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcctacatcatcatcctCaacaccgttgtgcccatttc	8	13	5	15	1	3	0	3	0	0	0	6	0	5	0	4	1	3	1	4	1	2	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:154309988C>A	ENST00000368489.3	+	12	1101	c.1101C>A	c.(1099-1101)ctC>ctA	p.L367L	ATP8B2_ENST00000368487.3_Silent_p.L334L|ATP8B2_ENST00000341822.2_Silent_p.L353L|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	353					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCATCATCCTCAACACCGTTG	0.532													117	403					1.39264e-60	1.56002e-60	1	0	A	154309988	C	A	154309988	2	1	13	1	0	0	0	0	0	0	0	1	1199	813	29	2		2	ATP8B2	1	154309988	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	2577390	154309988	94940633	12	2896											
PBXIP1	57326	broad.mit.edu	37	chr1	154926182	154926182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacccagctattatcagagtCtgggcaggaggccatagttg	10	9	12	10	0	2	1	1	0	1	1	2	2	2	2	2	3	1	3	2	3	3	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:154926182C>T	ENST00000368463.3	-	2	87	c.16G>A	c.(16-18)Gac>Aac	p.D6N	PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000368460.3_Missense_Mutation_p.D6N|PBXIP1_ENST00000539880.1_Missense_Mutation_p.D6N|PBXIP1_ENST00000368465.1_Intron|PBXIP1_ENST00000542459.1_Intron	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	6					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTATCAGAGTCTGGGCAGGAG	0.607													10	24					0	0	0	0	T	154926182	C	T	154926182	3	4	13	1	0	0	0	0	1	0	0	0	11567	913	32	2	2219	2	PBXIP1	1	154926182	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	616194	154926182	94324439	13	2897											
USH2A	7399	broad.mit.edu	37	chr1	215848871	215848872	+	Frame_Shift_Del	DEL	AG	AG	-																															ggcctccagggtcagtgtgtAgagagtgaaaggatccaggc																										TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:215848871_215848872delAG	ENST00000366943.2	-	63	12767_12768	c.12381_12382delCT	c.(12379-12384)ctacfs	p.LY4127fs	USH2A_ENST00000307340.3_Frame_Shift_Del_p.LY4127fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4127	Fibronectin type-III 26.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCAGTGTGTAGAGAGTGAAAG	0.559										HNSCC(13;0.011)			15	41	---	---	---	---					-	215848872	AG	-	215848871	7	5	13	1	0	1	0	1	0	0	0	0	17132	420	15	0	3266	0	USH2A	1	215848871	Frame_Shift_Del	DEL	AG	TCGA-BA-5558-01A-01D-1512-08	60922689	215848871	33401750	14	2898											
USH2A	7399	broad.mit.edu	37	chr1	216369938	216369938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgttgaggtgattgttcaGaaagcatattgatgtcatac	12	14	10	5	0	2	4	2	3	0	1	2	4	2	4	0	1	2	3	0	1	3	6			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:216369938G>A	ENST00000366943.2	-	19	4594	c.4208C>T	c.(4207-4209)tCt>tTt	p.S1403F	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.S1403F|USH2A_ENST00000307340.3_Missense_Mutation_p.S1403F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1403	Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGATTGTTCAGAAAGCATATT	0.408										HNSCC(13;0.011)			39	129					0	0	0	0	A	216369938	G	A	216369938	3	1	13	1	0	0	0	0	1	0	0	0	17132	942	33	2	11630	2	USH2A	1	216369938	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	521067	216369938	32880683	15	2899											
CHML	1122	broad.mit.edu	37	chr1	241798757	241798757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctccatatcctgactggcGtagcaaaaagcttctgtgtg	9	12	9	11	1	1	1	0	1	1	0	4	1	4	1	3	1	2	3	3	1	4	3	rs113330678		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:241798757G>A	ENST00000366553.1	-	1	475	c.312C>T	c.(310-312)taC>taT	p.Y104Y	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	104					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.Y104Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCTGACTGGCGTAGCAAAAAG	0.438													116	342					0	0	0	0	A	241798757	G	A	241798757	2	1	13	1	0	0	0	0	0	0	0	1	3380	1140	40	1		1	CHML	1	241798757	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	25428819	241798757	7451864	16	2900											
OR2W3	343171	broad.mit.edu	37	chr1	248059077	248059077	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccccatgtacttcttcctCgcccacctttccttcctgga	5	13	4	19	1	1	0	0	0	1	0	5	1	4	1	7	1	1	1	7	1	1	5			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:248059077C>T	ENST00000537741.1	+	3	446	c.189C>T	c.(187-189)ctC>ctT	p.L63L	OR2W3_ENST00000360358.3_Silent_p.L63L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACTTCTTCCTCGCCCACCTTT	0.572													49	261					0	0	0	0	T	248059077	C	T	248059077	2	4	13	1	0	0	0	0	0	0	0	1	11104	871	31	1		1	OR2W3	1	248059077	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	6260320	248059077	1191544	17	2901											
NT5C1B	93034	broad.mit.edu	37	chr2	18745214	18745214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagcaaggaaaagagcttCgtctatctctagaccccagc	12	8	8	13	1	2	2	0	0	2	2	5	3	3	3	3	1	3	2	3	1	5	3	rs140939592	byFrequency	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:18745214C>T	ENST00000304081.4	-	9	1601	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K	NT5C1B_ENST00000600945.1_Missense_Mutation_p.E561K|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E561K|NT5C1B_ENST00000359846.2_Missense_Mutation_p.E561K	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AAAAGAGCTTCGTCTATCTCT	0.537													38	118					0	0	0	0	T	18745214	C	T	18745214	3	4	13	1	0	0	0	0	1	0	0	0	10757	893	31	1	155	1	NT5C1B	2	18745214	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08		18745214	224454159	18	2902											
XDH	7498	broad.mit.edu	37	chr2	31621533	31621533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgccaggggtgcagaacccGcactgggagccgtggctttt	7	8	15	11	2	0	1	0	0	0	1	0	2	0	2	3	4	4	3	3	4	1	2	rs118042822	by1000genomes	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:31621533G>A	ENST00000379416.3	-	5	387	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	113					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.C113C(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGCAGAACCCGCACTGGGAGC	0.552													55	176					0	0	0	0	A	31621533	G	A	31621533	2	1	13	1	0	0	0	0	0	0	0	1	17522	1079	38	1		1	XDH	2	31621533	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	12876319	31621533	211577840	19	2903											
BIRC6	57448	broad.mit.edu	37	chr2	32641134	32641153	+	Frame_Shift_Del	DEL	AGTGGAGCCTCCCAAAAAGG	AGTGGAGCCTCCCAAAAAGG	-																															aactttgaaattttggccaaAgtggagcctcccaaaaagga																										TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:32641134_32641153delAGTGGAGCCTCCCAAAAAGG	ENST00000421745.2	+	10	2909_2928	c.2775_2794delAGTGGAGCCTCCCAAAAAGG	c.(2773-2796)aaagfs	p.KVEPPKKE925fs		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	925					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTTGGCCAAAGTGGAGCCTCCCAAAAAGGAGGGCACTGA	0.414													18	140	---	---	---	---					-	32641153	AGTGGAGCCTCCCAAAAAGG	-	32641134	7	5	13	1	0	1	0	1	0	0	0	0	1443	69	3	0	2813	0	BIRC6	2	32641134	Frame_Shift_Del	DEL	AGTGGAGCCTCCCAAAAAGG	TCGA-BA-5558-01A-01D-1512-08	1019601	32641134	210558239	20	2904											
FAM98A	25940	broad.mit.edu	37	chr2	33813507	33813507	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactcttgaaagacctcactAccgcctccttcttgagcttt	9	13	5	14	1	3	3	1	2	2	1	4	3	4	3	4	0	3	1	4	0	3	5			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:33813507A>G	ENST00000403368.1	-	4	486	c.417T>C	c.(415-417)ggT>ggC	p.G139G	FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000238823.8_Silent_p.G139G|FAM98A_ENST00000498340.1_Intron	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	139										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					AGACCTCACTACCGCCTCCTT	0.413													41	180					0	0	0	0	G	33813507	A	G	33813507	2	3	13	1	0	0	0	0	0	0	0	1	5701	378	14	5		5	FAM98A	2	33813507	Silent	SNP	A	TCGA-BA-5558-01A-01D-1512-08	1172373	33813507	209385866	21	2905											
USP34	9736	broad.mit.edu	37	chr2	61447483	61447483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgtgagccaaaagaaacCgctcgacccagttttccata	14	9	7	11	2	0	2	0	1	0	1	2	3	1	2	4	0	2	2	4	0	5	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:61447483C>T	ENST00000398571.2	-	67	8085	c.8009G>A	c.(8008-8010)cGg>cAg	p.R2670Q	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2670					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAAAAGAAACCGCTCGACCCA	0.378													103	383					0	0	0	0	T	61447483	C	T	61447483	3	4	13	1	0	0	0	0	1	0	0	0	17161	652	23	1	2687	1	USP34	2	61447483	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	27633976	61447483	181751890	22	2906											
TTN	7273	broad.mit.edu	37	chr2	179400544	179400544	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaactgctcccatgccttCaagagttttaggtaagtgta	11	13	9	8	0	1	2	1	1	0	1	2	2	2	2	2	1	3	4	2	1	5	5			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:179400544C>A	ENST00000589042.1	-	358	101022	c.100798G>T	c.(100798-100800)Gaa>Taa	p.E33600*	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E31032*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E31959*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E24660*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E24727*|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E24535*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31959							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)			CCCATGCCTTCAAGAGTTTTA	0.393													3	60					0.115264	0.115761	1	0	A	179400544	C	A	179400544	4	1	13	1	0	0	0	0	0	1	0	0	16831	835	29	2	7201	2	TTN	2	179400544	Nonsense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	117953061	179400544	63798829	23	2907											
RFTN2	130132	broad.mit.edu	37	chr2	198498526	198498526	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatgatgaagttcttcctCaattccgctttcagatgact	9	16	6	10	1	4	4	3	3	1	1	6	4	6	4	2	0	0	2	2	0	2	5			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:198498526C>G	ENST00000295049.3	-	4	1170	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	212						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						AGTTCTTCCTCAATTCCGCTT	0.403													65	155					0	0	0	0	G	198498526	C	G	198498526	3	3	13	1	0	0	0	0	1	0	0	0	13341	835	29	2	895	2	RFTN2	2	198498526	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	19097982	198498526	44700847	24	2908											
STK36	27148	broad.mit.edu	37	chr2	219562684	219562684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctccttataggtgtcttggCcgacctcagggactcagaag	8	10	11	12	1	3	1	2	0	1	1	4	3	4	2	4	3	0	0	4	3	3	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:219562684C>T	ENST00000295709.3	+	25	3296	c.3017C>T	c.(3016-3018)gCc>gTc	p.A1006V	STK36_ENST00000440309.1_Missense_Mutation_p.A1006V|STK36_ENST00000392105.3_Missense_Mutation_p.A985V|STK36_ENST00000392106.2_Missense_Mutation_p.A985V	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1006					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGTGTCTTGGCCGACCTCAGG	0.547													4	172					0	0	0	0	T	219562684	C	T	219562684	3	4	13	1	0	0	0	0	1	0	0	0	15392	739	26	4	3111	4	STK36	2	219562684	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	21064158	219562684	23636689	25	2909											
FARP2	9855	broad.mit.edu	37	chr2	242312558	242312558	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaacatacagagtcctgcaGactgcagggatgcgcttggg	10	7	15	9	1	0	2	0	0	0	2	1	4	1	4	1	3	5	3	1	3	2	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:242312558G>A	ENST00000264042.3	+	2	206	c.36G>A	c.(34-36)caG>caA	p.Q12Q	FARP2_ENST00000373287.4_Silent_p.Q12Q|FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000545004.1_Silent_p.Q12Q	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	12					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GAGTCCTGCAGACTGCAGGGA	0.488													36	79					0	0	0	0	A	242312558	G	A	242312558	2	1	13	1	0	0	0	0	0	0	0	1	5722	933	33	2		2	FARP2	2	242312558	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	22749874	242312558	886815	26	2910											
SCN5A	6331	broad.mit.edu	37	chr3	38627225	38627225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcaagaagaccagcaggCataatgactgccccgacacc	15	3	9	14	1	0	3	0	1	0	2	0	4	0	3	4	1	3	3	4	1	4	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:38627225C>A	ENST00000413689.1	-	16	2937	c.2744G>T	c.(2743-2745)tGc>tTc	p.C915F	SCN5A_ENST00000425664.1_Missense_Mutation_p.C915F|SCN5A_ENST00000423572.2_Missense_Mutation_p.C915F|SCN5A_ENST00000455624.2_Missense_Mutation_p.C915F|SCN5A_ENST00000414099.2_Missense_Mutation_p.C915F|SCN5A_ENST00000333535.4_Missense_Mutation_p.C915F|SCN5A_ENST00000451551.2_Missense_Mutation_p.C915F|SCN5A_ENST00000450102.2_Missense_Mutation_p.C915F|SCN5A_ENST00000449557.2_Missense_Mutation_p.C915F|SCN5A_ENST00000443581.1_Missense_Mutation_p.C915F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	915					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GACCAGCAGGCATAATGACTG	0.532													3	58					0.115264	0.115761	1	0	A	38627225	C	A	38627225	3	1	13	1	0	0	0	0	1	0	0	0	14009	710	25	4	3358	4	SCN5A	3	38627225	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08		38627225	159395205	27	2911											
CHDH	55349	broad.mit.edu	37	chr3	53852082	53852082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctgtcggcttttgcccGcacaaaggcatctatctctt	6	12	10	13	3	2	0	0	0	2	0	4	0	2	0	1	3	1	4	1	3	2	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:53852082G>A	ENST00000315251.5	-	9	1944	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	503					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GCTTTTGCCCGCACAAAGGCA	0.582													4	141					0	0	0	0	A	53852082	G	A	53852082	3	1	13	1	0	0	0	0	1	0	0	0	3362	1086	38	1	281	1	CHDH	3	53852082	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	15224857	53852082	144170348	28	2912											
TFG	10342	broad.mit.edu	37	chr3	100463729	100463729	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctatggtgcacagcagccGcaggctccacctcagcagcc	8	5	12	16	1	1	0	1	0	0	0	2	0	2	0	4	3	5	6	4	3	1	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:100463729G>A	ENST00000240851.4	+	7	1114	c.774G>A	c.(772-774)ccG>ccA	p.P258P	TFG_ENST00000490574.1_Silent_p.P258P|TFG_ENST00000476228.1_Silent_p.P254P|TFG_ENST00000418917.2_Silent_p.P254P|TFG_ENST00000481203.1_3'UTR	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	258					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACAGCAGCCGCAGGCTCCAC	0.468			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"								19	103					0	0	0	0	A	100463729	G	A	100463729	2	1	13	1	0	0	0	0	0	0	0	1	15900	1074	38	1		1	TFG	3	100463729	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	46611647	100463729	97558701	29	2913											
CD80	941	broad.mit.edu	37	chr3	119248743	119248743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tactgagattaaggtaatggCccaggatgggagcaggttat	12	10	14	5	0	0	1	0	1	0	1	0	4	0	3	1	5	2	3	1	5	4	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:119248743C>T	ENST00000264246.3	-	5	1104	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	CD80_ENST00000478182.1_Missense_Mutation_p.A248T|CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Intron	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	248					interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	AAGGTAATGGCCCAGGATGGG	0.403													20	114					0	0	0	0	T	119248743	C	T	119248743	3	4	13	1	0	0	0	0	1	0	0	0	3067	739	26	4	132	4	CD80	3	119248743	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	18785014	119248743	78773687	30	2914											
AMOTL2	51421	broad.mit.edu	37	chr3	134086483	134086483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggtggctgaggaggcctgGgcactcactggcccctccac	6	6	15	14	0	1	1	1	1	0	0	2	3	2	2	4	6	0	2	4	6	0	0			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:134086483G>A	ENST00000514516.1	-	3	1249	c.1071C>T	c.(1069-1071)gcC>gcT	p.A357A	AMOTL2_ENST00000249883.5_Silent_p.A299A|AMOTL2_ENST00000422605.2_Silent_p.A299A|AMOTL2_ENST00000513145.1_Silent_p.A299A	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	299										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGGAGGCCTGGGCACTCACTG	0.667													27	88					0	0	0	0	A	134086483	G	A	134086483	2	1	13	1	0	0	0	0	0	0	0	1	584	1219	43	4		4	AMOTL2	3	134086483	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	14837740	134086483	63935947	31	2915											
GRK7	131890	broad.mit.edu	37	chr3	141497261	141497261	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccgggctgcagggctgCgcggagctccgccagaagct	5	5	16	15	4	0	1	0	0	0	1	1	2	1	2	3	3	5	5	3	3	1	0			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:141497261C>T	ENST00000264952.2	+	1	272	c.135C>T	c.(133-135)tgC>tgT	p.C45C		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	45					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGCAGGGCTGCGCGGAGCTCC	0.687													12	33					0	0	0	0	T	141497261	C	T	141497261	2	4	13	1	0	0	0	0	0	0	0	1	6844	776	27	1		1	GRK7	3	141497261	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	7410778	141497261	56525169	32	2916											
RAP2B	5912	broad.mit.edu	37	chr3	152880843	152880843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgggcaacaaggtggacctgGagggtgagcgcgaggtctcg	8	6	19	8	3	1	1	0	1	1	0	2	4	1	3	1	6	2	1	1	6	2	0			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:152880843G>C	ENST00000323534.2	+	1	815	c.361G>C	c.(361-363)Gag>Cag	p.E121Q		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	121					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGTGGACCTGGAGGGTGAGCG	0.627													43	75					0	0	0	0	C	152880843	G	C	152880843	3	2	13	1	0	0	0	0	1	0	0	0	13123	1175	41	2	363	2	RAP2B	3	152880843	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	11383582	152880843	45141587	33	2917											
SLC7A14	57709	broad.mit.edu	37	chr3	170184960	170184960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgccttcgcatctgacatCtgttggtaatagaagccttt	8	16	8	9	1	2	2	0	1	2	1	3	2	2	2	2	1	2	3	2	1	3	6			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:170184960C>G	ENST00000231706.4	-	8	2514	c.2199G>C	c.(2197-2199)caG>caC	p.Q733H	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	733						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CATCTGACATCTGTTGGTAAT	0.532													48	208					0	0	0	0	G	170184960	C	G	170184960	3	3	13	1	0	0	0	0	1	0	0	0	14784	912	32	2	120	2	SLC7A14	3	170184960	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	17304117	170184960	27837470	34	2918											
EIF4G1	1981	broad.mit.edu	37	chr3	184043113	184043113	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcattaaagaaaagaagacGtcatcccgcatccgctttat	15	10	6	10	3	2	3	2	0	0	3	4	3	4	3	2	0	0	2	2	0	6	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:184043113G>A	ENST00000342981.4	+	18	3330	c.2916G>A	c.(2914-2916)acG>acA	p.T972T	EIF4G1_ENST00000434061.2_Silent_p.T776T|EIF4G1_ENST00000352767.3_Silent_p.T978T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.T884T|EIF4G1_ENST00000346169.2_Silent_p.T971T|EIF4G1_ENST00000441154.1_Silent_p.T808T|EIF4G1_ENST00000414031.1_Silent_p.T931T|EIF4G1_ENST00000319274.6_Silent_p.T971T|EIF4G1_ENST00000350481.5_Silent_p.T807T|EIF4G1_ENST00000411531.1_Silent_p.T932T|EIF4G1_ENST00000424196.1_Silent_p.T978T|EIF4G1_ENST00000435046.2_Silent_p.T775T|EIF4G1_ENST00000427845.1_Silent_p.T885T|EIF4G1_ENST00000382330.3_Silent_p.T978T	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	971	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAAGAAGACGTCATCCCGCA	0.522													32	162					0	0	0	0	A	184043113	G	A	184043113	2	1	13	1	0	0	0	0	0	0	0	1	5074	1132	40	1		1	EIF4G1	3	184043113	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	13858153	184043113	13979317	35	2919											
WHSC1	7468	broad.mit.edu	37	chr4	1976646	1976646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcgatttatgaatcacagCtgccagcccaactgtgagac	11	10	8	12	1	2	2	1	2	1	1	3	4	2	2	2	0	4	1	2	0	3	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:1976646C>A	ENST00000382895.3	+	21	3860	c.3429C>A	c.(3427-3429)agC>agA	p.S1143R	WHSC1_ENST00000382891.5_Missense_Mutation_p.S1143R|WHSC1_ENST00000508803.1_Missense_Mutation_p.S1143R|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.S491R|WHSC1_ENST00000382892.2_Missense_Mutation_p.S1143R	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1143	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGAATCACAGCTGCCAGCCCA	0.507			T	IGH@	MM								53	109					1.77205e-36	1.97553e-36	1	0	A	1976646	C	A	1976646	3	1	13	1	0	0	0	0	1	0	0	0	17458	796	28	4	3575	4	WHSC1	4	1976646	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08		1976646	189177630	36	2920											
HGFAC	3083	broad.mit.edu	37	chr4	3444828	3444828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccttccgctacgggggccGcatgctgcatgcctgcactt	4	9	11	17	3	0	0	0	0	0	0	1	0	1	0	5	2	5	5	5	2	1	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:3444828G>A	ENST00000382774.3	+	3	465	c.350G>A	c.(349-351)cGc>cAc	p.R117H	HGFAC_ENST00000511533.1_Missense_Mutation_p.R117H	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	117	Fibronectin type-II.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TACGGGGGCCGCATGCTGCAT	0.721													3	16					0	0	0	0	A	3444828	G	A	3444828	3	1	13	1	0	0	0	0	1	0	0	0	7136	1087	38	1	360	1	HGFAC	4	3444828	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	1468182	3444828	187709448	37	2921											
TBC1D19	55296	broad.mit.edu	37	chr4	26719590	26719590	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccgggatacatctgtgttGagtcactttgcattcaacag	9	13	9	10	1	3	1	2	1	1	0	4	2	4	2	1	1	3	2	1	1	2	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:26719590G>A	ENST00000264866.4	+	14	1268	c.990G>A	c.(988-990)ttG>ttA	p.L330L	TBC1D19_ENST00000511789.1_Silent_p.L265L	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	330	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CATCTGTGTTGAGTCACTTTG	0.303													34	105					0	0	0	0	A	26719590	G	A	26719590	2	1	13	1	0	0	0	0	0	0	0	1	15698	1281	45	2		2	TBC1D19	4	26719590	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	23274762	26719590	164434686	38	2922											
ANKRD17	26057	broad.mit.edu	37	chr4	73990774	73990774	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccaagatgagtggagtaaaAcctggagaaaaataatgatc	18	7	11	5	0	0	4	0	2	0	2	1	6	0	5	2	2	1	1	2	2	6	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:73990774A>G	ENST00000358602.4	-	18	3464	c.3346_splice	c.e18-1	p.G1116_splice	ANKRD17_ENST00000509867.2_Splice_Site_p.G1003_splice|ANKRD17_ENST00000330838.6_Splice_Site_p.G865_splice|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1116					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTGGAGTAAAACCTGGAGAAA	0.378													28	84					0	0	0	0	G	73990774	A	G	73990774	5	3	13	1	0	0	0	0	0	0	1	0	646	57	2	5	4531	5	ANKRD17	4	73990774	Splice_Site	SNP	A	TCGA-BA-5558-01A-01D-1512-08	47271184	73990774	117163502	39	2923											
PAPSS1	9061	broad.mit.edu	37	chr4	108552816	108552816	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatagtagtccatacgcttCtttttcttgttgtaagctgc	7	18	7	9	1	3	0	1	0	2	0	4	0	4	0	1	0	3	5	1	0	4	9			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:108552816C>G	ENST00000265174.4	-	11	1979	c.1707G>C	c.(1705-1707)aaG>aaC	p.K569N		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	569					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CCATACGCTTCTTTTTCTTGT	0.423													45	174					0	0	0	0	G	108552816	C	G	108552816	3	3	13	1	0	0	0	0	1	0	0	0	11505	912	32	2	175	2	PAPSS1	4	108552816	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	34562042	108552816	82601460	40	2924											
CASP6	839	broad.mit.edu	37	chr4	110612108	110612108	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtccaacttctctgtctGattatctactacatccaaag	10	14	6	11	0	3	1	0	1	3	0	6	1	5	1	2	1	3	0	2	1	5	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:110612108G>A	ENST00000265164.2	-	6	618	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	CASP6_ENST00000510324.1_5'UTR|CASP6_ENST00000352981.3_Nonsense_Mutation_p.Q92*	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	181					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		TTCTCTGTCTGATTATCTACT	0.488													24	84					0	0	0	0	A	110612108	G	A	110612108	4	1	13	1	0	0	0	0	0	1	0	0	2700	1299	45	2	348	2	CASP6	4	110612108	Nonsense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	2059292	110612108	80542168	41	2925											
DCHS2	54798	broad.mit.edu	37	chr4	155256201	155256201	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtcttgagcagagaccatCaacgaaagtgtggtagattc	12	9	11	9	2	2	3	1	1	1	2	3	5	2	3	2	1	2	2	2	1	3	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:155256201C>T	ENST00000357232.3	-	8	1034	c.1035G>A	c.(1033-1035)ttG>ttA	p.L345L	DCHS2_ENST00000339452.1_Silent_p.L844L|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	345	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGAGACCATCAACGAAAGTG	0.408													25	90					0	0	0	0	T	155256201	C	T	155256201	2	4	13	1	0	0	0	0	0	0	0	1	4320	825	29	2		2	DCHS2	4	155256201	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	44644093	155256201	35898075	42	2926											
SNX25	83891	broad.mit.edu	37	chr4	186185722	186185722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcaaaggatgtgcagtctCtcagcttacgtataatgctt	10	13	8	10	1	3	0	2	0	1	0	4	1	3	1	1	1	4	4	1	1	4	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:186185722C>T	ENST00000504273.1	+	4	664	c.370C>T	c.(370-372)Ctc>Ttc	p.L124F	SNX25_ENST00000264694.8_Missense_Mutation_p.L124F			Q9H3E2	SNX25_HUMAN	sorting nexin 25	124	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TGTGCAGTCTCTCAGCTTACG	0.403													43	93					0	0	0	0	T	186185722	C	T	186185722	3	4	13	1	0	0	0	0	1	0	0	0	14984	913	32	2	380	2	SNX25	4	186185722	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	30929521	186185722	4968554	43	2927											
PRDM9	56979	broad.mit.edu	37	chr5	23526395	23526395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtctggccttttcaagtCagaaatttctcagtcaacat	10	14	7	10	0	5	1	4	0	2	1	6	1	5	1	1	1	1	1	1	1	3	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:23526395C>G	ENST00000296682.3	+	11	1380	c.1198C>G	c.(1198-1200)Cag>Gag	p.Q400E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	400					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTTTCAAGTCAGAAATTTCT	0.473										HNSCC(3;0.000094)			34	203					0	0	0	0	G	23526395	C	G	23526395	3	3	13	1	0	0	0	0	1	0	0	0	12543	827	29	2	1236	2	PRDM9	5	23526395	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08		23526395	157388865	44	2928											
ADAMTS12	81792	broad.mit.edu	37	chr5	33649669	33649669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacttactccaagaagcGggtgatgtactcctcgctgc	8	11	10	12	2	1	2	1	1	0	1	4	2	3	2	2	1	4	2	2	1	4	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:33649669G>A	ENST00000504830.1	-	8	1659	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R442C|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	442	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCAAGAAGCGGGTGATGTAC	0.532										HNSCC(64;0.19)			9	132					0	0	0	0	A	33649669	G	A	33649669	3	1	13	1	0	0	0	0	1	0	0	0	257	1116	39	1	3528	1	ADAMTS12	5	33649669	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	10123274	33649669	147265591	45	2929											
NIPBL	25836	broad.mit.edu	37	chr5	36985741	36985741	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actaagacgtgaccatgataAtaaacaaaaatcagatgaca	21	7	6	7	1	1	5	1	3	0	2	1	5	1	5	1	0	1	0	1	0	6	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:36985741A>G	ENST00000282516.8	+	10	2958	c.2459A>G	c.(2458-2460)aAt>aGt	p.N820S	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.N820S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	820					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GACCATGATAATAAACAAAAA	0.438													6	129					0	0	0	0	G	36985741	A	G	36985741	3	3	13	1	0	0	0	0	1	0	0	0	10498	101	4	5	2493	5	NIPBL	5	36985741	Missense_Mutation	SNP	A	TCGA-BA-5558-01A-01D-1512-08	3336072	36985741	143929519	46	2930											
DAB2	1601	broad.mit.edu	37	chr5	39392478	39392478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcttaccccagttttctCatcaattatttttatcccag	10	18	2	11	0	3	0	2	0	2	0	5	0	4	0	3	0	1	1	3	0	5	8			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:39392478C>T	ENST00000320816.6	-	4	786	c.319G>A	c.(319-321)Gag>Aag	p.E107K	DAB2_ENST00000339788.6_Missense_Mutation_p.E107K|DAB2_ENST00000545653.1_Missense_Mutation_p.E107K|DAB2_ENST00000509337.1_Missense_Mutation_p.E107K|DAB2_ENST00000512525.1_5'UTR	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	107	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCAGTTTTCTCATCAATTATT	0.463													21	118					0	0	0	0	T	39392478	C	T	39392478	3	4	13	1	0	0	0	0	1	0	0	0	4251	835	29	2	2037	2	DAB2	5	39392478	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	2406737	39392478	141522782	47	2931											
PDE4D	5144	broad.mit.edu	37	chr5	58285677	58285677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacatcagcatggtaatggtCttcgagagtcataagatatg	13	11	10	7	1	3	2	2	0	1	2	4	3	3	2	0	2	1	2	0	2	3	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:58285677C>T	ENST00000340635.6	-	10	1532	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	PDE4D_ENST00000502484.2_Missense_Mutation_p.D392N|PDE4D_ENST00000546160.1_Missense_Mutation_p.D392N|PDE4D_ENST00000503258.1_Missense_Mutation_p.D323N|PDE4D_ENST00000405755.2_Missense_Mutation_p.D331N|PDE4D_ENST00000358923.6_Missense_Mutation_p.D151N|PDE4D_ENST00000507116.1_Missense_Mutation_p.D389N|PDE4D_ENST00000317118.8_Missense_Mutation_p.D162N|PDE4D_ENST00000360047.5_Missense_Mutation_p.D317N	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	453					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TGGTAATGGTCTTCGAGAGTC	0.343													17	72					0	0	0	0	T	58285677	C	T	58285677	3	4	13	1	0	0	0	0	1	0	0	0	11713	913	32	2	1096	2	PDE4D	5	58285677	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	18893199	58285677	122629583	48	2932											
MEF2C	4208	broad.mit.edu	37	chr5	88018491	88018491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctttcgtccggcgaaggtCtggtgagtccaatgggggag	6	9	16	10	3	1	1	0	1	1	0	4	3	3	2	3	5	0	0	3	5	2	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:88018491C>T	ENST00000504921.2	-	10	2024	c.1352G>A	c.(1351-1353)aGa>aAa	p.R451K	MEF2C_ENST00000340208.5_Missense_Mutation_p.R461K|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000539796.1_Missense_Mutation_p.R395K|MEF2C_ENST00000514015.1_Missense_Mutation_p.R419K|MEF2C_ENST00000510942.1_Missense_Mutation_p.R443K|MEF2C_ENST00000508569.1_Missense_Mutation_p.R411K|MEF2C_ENST00000437473.2_Missense_Mutation_p.R451K|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000514028.1_Missense_Mutation_p.R451K|MEF2C_ENST00000424173.2_Missense_Mutation_p.R441K			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	451					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CGGCGAAGGTCTGGTGAGTCC	0.498										HNSCC(66;0.2)			66	251					0	0	0	0	T	88018491	C	T	88018491	3	4	13	1	0	0	0	0	1	0	0	0	9526	913	32	2	73	2	MEF2C	5	88018491	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	29732814	88018491	92896769	49	2933											
SEMA6A	57556	broad.mit.edu	37	chr5	115783452	115783452	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatgactgcaatggccaaGagggtgacgggaaccagctg	12	5	16	8	1	0	3	0	2	0	1	0	5	0	5	2	4	3	2	2	4	3	0			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:115783452G>A	ENST00000343348.6	-	19	2737	c.1950C>T	c.(1948-1950)ctC>ctT	p.L650L	SEMA6A_ENST00000503865.1_Silent_p.L29L|SEMA6A_ENST00000510263.1_Silent_p.L650L|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000513137.1_Silent_p.L77L|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.L667L|SEMA6A_ENST00000282394.6_Silent_p.L127L	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	650					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CAATGGCCAAGAGGGTGACGG	0.552													5	29					0	0	0	0	A	115783452	G	A	115783452	2	1	13	1	0	0	0	0	0	0	0	1	14126	929	33	2		2	SEMA6A	5	115783452	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	27764961	115783452	65131808	50	2934											
ADAMTS19	171019	broad.mit.edu	37	chr5	128862009	128862009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaggtctagaaaaatagcaGaaagtggaagagggaaacga	19	5	13	4	1	1	3	0	0	1	3	1	6	1	5	0	3	2	1	0	3	8	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:128862009G>A	ENST00000274487.4	+	4	1073	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	310					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAAATAGCAGAAAGTGGAAG	0.358													18	57					0	0	0	0	A	128862009	G	A	128862009	3	1	13	1	0	0	0	0	1	0	0	0	264	943	33	2	942	2	ADAMTS19	5	128862009	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	13078557	128862009	52053251	51	2935											
HSPA4	3308	broad.mit.edu	37	chr5	132400683	132400683	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttctagggcttgcatttCttttggtcctaagaatcgtt	6	18	9	8	1	3	1	0	0	3	1	5	1	4	1	1	2	1	3	1	2	3	8			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:132400683C>G	ENST00000304858.2	+	2	408	c.119C>G	c.(118-120)tCt>tGt	p.S40C		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	40					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTTGCATTTCTTTTGGTCCT	0.343													33	161					0	0	0	0	G	132400683	C	G	132400683	3	3	13	1	0	0	0	0	1	0	0	0	7464	913	32	2	125	2	HSPA4	5	132400683	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	3538674	132400683	48514577	52	2936											
PCDHA1	56147	broad.mit.edu	37	chr5	140165886	140165886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttgcaatggtgttttCtaggagagggggcctgggag	6	13	16	6	0	1	1	0	0	1	1	2	3	2	2	2	5	1	2	2	5	2	5			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:140165886C>A	ENST00000504120.2	+	1	11	c.11C>A	c.(10-12)tCt>tAt	p.S4Y	PCDHA1_ENST00000394633.3_Missense_Mutation_p.S4Y|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S4Y	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGTGTTTTCTAGGAGAGGG	0.502													47	225					2.76378e-25	3.06648e-25	1	0	A	140165886	C	A	140165886	3	1	13	1	0	0	0	0	1	0	0	0	11590	913	32	2	13	2	PCDHA1	5	140165886	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	7765203	140165886	40749374	53	2937											
PCDH12	51294	broad.mit.edu	37	chr5	141336011	141336011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtaagttgttttcccgcGtggagacttcatacctgctt	7	14	11	9	2	1	1	1	0	0	1	2	2	2	1	2	2	2	4	2	2	2	7			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:141336011G>A	ENST00000231484.3	-	1	2616	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	469	Cadherin 5.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTTCCCGCGTGGAGACTTC	0.478													35	143					0	0	0	0	A	141336011	G	A	141336011	3	1	13	1	0	0	0	0	1	0	0	0	11581	1145	40	1	2164	1	PCDH12	5	141336011	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	1170125	141336011	39579249	54	2938											
SH3RF2	153769	broad.mit.edu	37	chr5	145379752	145379752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggggaaatcaatggcatCagcgggaacttcccagccag	12	5	13	11	1	2	0	2	0	0	0	3	2	3	2	2	4	3	1	2	4	3	1	rs137960488		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:145379752C>T	ENST00000511217.1	+	2	562	c.510C>T	c.(508-510)atC>atT	p.I170I	SH3RF2_ENST00000359120.4_Silent_p.I170I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	170	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAATGGCATCAGCGGGAACT	0.567													19	81					0	0	0	0	T	145379752	C	T	145379752	2	4	13	1	0	0	0	0	0	0	0	1	14347	816	29	2		2	SH3RF2	5	145379752	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	4043741	145379752	35535508	55	2939											
GABRG2	2566	broad.mit.edu	37	chr5	161524718	161524718	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttaacagcaccattaaagtCctccgattgaacagcaacat	15	10	5	11	1	0	1	0	1	0	0	2	2	2	1	3	0	5	2	3	0	5	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:161524718C>T	ENST00000356592.3	+	4	862	c.402C>T	c.(400-402)gtC>gtT	p.V134V	GABRG2_ENST00000414552.2_Silent_p.V134V|GABRG2_ENST00000361925.4_Silent_p.V134V|GABRG2_ENST00000393933.4_Silent_p.V39V	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	134					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CCATTAAAGTCCTCCGATTGA	0.378													30	128					0	0	0	0	T	161524718	C	T	161524718	2	4	13	1	0	0	0	0	0	0	0	1	6220	842	30	2		2	GABRG2	5	161524718	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	16144966	161524718	19390542	56	2940											
SERPINB6	5269	broad.mit.edu	37	chr6	2948610	2948610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaggaaggggtggtcGgcgcagaagcgggggacgaa	14	2	20	5	4	0	2	0	0	0	2	1	5	0	4	0	7	1	1	0	7	6	0			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:2948610G>A	ENST00000380520.1	-	6	3047	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	SERPINB6_ENST00000380529.1_Silent_p.A351A|SERPINB6_ENST00000380546.3_Silent_p.A351A|SERPINB6_ENST00000380539.1_Silent_p.A351A|SERPINB6_ENST00000335686.5_Silent_p.A351A|SERPINB6_ENST00000380524.1_Silent_p.A351A			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	351					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	AGGGGTGGTCGGCGCAGAAGC	0.587													13	58					0	0	0	0	A	2948610	G	A	2948610	2	1	13	1	0	0	0	0	0	0	0	1	14192	1103	39	1		1	SERPINB6	6	2948610	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08		2948610	168166457	57	2941											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114238	27114238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgacggccttggtgccctCggacacggcgtgcttggcca	4	8	16	13	4	0	1	0	1	0	0	1	2	0	2	3	6	2	1	3	6	0	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:27114238C>T	ENST00000396891.4	-	1	381	c.340G>A	c.(340-342)Gag>Aag	p.E114K	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.E114K	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	114					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTGGTGCCCTCGGACACGGCG	0.582													28	125					0	0	0	0	T	27114238	C	T	27114238	3	4	13	1	0	0	0	0	1	0	0	0	7200	893	31	1	44	1	HIST1H2BK	6	27114238	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	24165628	27114238	144000829	58	2942											
GABBR1	2550	broad.mit.edu	37	chr6	29591083	29591083	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcccaacccctcctcaccGaagtgaagacctcagtggtc	9	8	8	16	1	2	2	2	1	0	1	4	3	3	2	6	1	2	0	6	1	3	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:29591083G>A	ENST00000377034.4	-	8	1297	c.963_splice	c.e8+1	p.S321_splice	GABBR1_ENST00000377012.4_Splice_Site_p.S204_splice|GABBR1_ENST00000377016.4_Splice_Site_p.S259_splice|GABBR1_ENST00000355973.3_Splice_Site_p.S204_splice|GABBR1_ENST00000376977.3_Splice_Site_p.S321_splice	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	321					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CCTCCTCACCGAAGTGAAGAC	0.517													13	50					0	0	0	0	A	29591083	G	A	29591083	5	1	13	1	0	0	0	0	0	0	1	0	6203	1072	37	1	1987	1	GABBR1	6	29591083	Splice_Site	SNP	G	TCGA-BA-5558-01A-01D-1512-08	2476845	29591083	141523984	59	2943											
MDFI	4188	broad.mit.edu	37	chr6	41621181	41621181	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgcctctgctgctgctgCtgtggctctggcgagtgtgc	1	13	15	12	2	2	0	0	0	2	0	3	1	2	0	1	2	6	5	1	2	0	0			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:41621181C>T	ENST00000373050.4	+	4	613	c.426C>T	c.(424-426)tgC>tgT	p.C142C				Q99750	MDFI_HUMAN	MyoD family inhibitor	203					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GCTGCTGCTGCTGTGGCTCTG	0.657													3	105					0	0	0	0	T	41621181	C	T	41621181	2	4	13	1	0	0	0	0	0	0	0	1	9473	805	28	4		4	MDFI	6	41621181	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	12030098	41621181	129493886	60	2944											
FRS3	10817	broad.mit.edu	37	chr6	41738550	41738550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctggggccccttagggCggtctccaccccagcccttt	3	10	12	16	1	2	0	0	0	2	0	3	0	2	0	6	5	1	1	6	5	1	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:41738550C>T	ENST00000373018.3	-	7	1537	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H	FRS3_ENST00000259748.2_Missense_Mutation_p.R429H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	429					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCCTTAGGGCGGTCTCCACC	0.637													6	74					0	0	0	0	T	41738550	C	T	41738550	3	4	13	1	0	0	0	0	1	0	0	0	6110	768	27	1	196	1	FRS3	6	41738550	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	117369	41738550	129376517	61	2945											
GPR111	222611	broad.mit.edu	37	chr6	47649665	47649665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatgtaggcctgggcatttCtatttgcagcctgatccttt	7	16	9	9	0	1	1	0	1	1	0	2	1	2	1	3	2	2	3	3	2	3	6			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:47649665C>G	ENST00000398742.2	+	5	1215	c.1166C>G	c.(1165-1167)tCt>tGt	p.S389C	GPR111_ENST00000296862.1_Missense_Mutation_p.S457C|GPR111_ENST00000507065.1_Missense_Mutation_p.S389C			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	457					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGGGCATTTCTATTTGCAGC	0.428													60	187					0	0	0	0	G	47649665	C	G	47649665	3	3	13	1	0	0	0	0	1	0	0	0	6677	913	32	2	1184	2	GPR111	6	47649665	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	5911115	47649665	123465402	62	2946											
DST	667	broad.mit.edu	37	chr6	56482963	56482963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttgtctgagaaaagtactCagagtaacactgctggcttt	11	12	10	8	0	2	2	1	1	1	2	2	3	2	2	0	1	3	5	0	1	4	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:56482963C>T	ENST00000370765.6	-	23	5976	c.5869G>A	c.(5869-5871)Gag>Aag	p.E1957K	DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1356					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAAAAGTACTCAGAGTAACAC	0.458													27	68					0	0	0	0	T	56482963	C	T	56482963	3	4	13	1	0	0	0	0	1	0	0	0	4819	835	29	2	14534	2	DST	6	56482963	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	8833298	56482963	114632104	63	2947											
TBX18	9096	broad.mit.edu	37	chr6	85469990	85469990	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtatcttttgttgtcCactggtacaatatccatggc	8	16	7	10	0	1	0	0	0	1	0	3	0	3	0	3	2	2	3	3	2	5	7			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:85469990C>G	ENST00000369663.5	-	3	919	c.582G>C	c.(580-582)gtG>gtC	p.V194V	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Silent_p.V36V	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	194					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TTTTGTTGTCCACTGGTACAA	0.388													11	69					0	0	0	0	G	85469990	C	G	85469990	2	3	13	1	0	0	0	0	0	0	0	1	15747	581	21	4		4	TBX18	6	85469990	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	28987027	85469990	85645077	64	2948											
MCM9	254394	broad.mit.edu	37	chr6	119245170	119245170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgttacacatgtaatcccGctcaaactccagaaccttca	12	12	4	13	1	2	1	2	0	0	1	4	1	4	1	3	0	3	3	3	0	4	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:119245170G>A	ENST00000316316.6	-	3	713	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	MCM9_ENST00000316068.3_Missense_Mutation_p.R143W	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	143					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ATGTAATCCCGCTCAAACTCC	0.468													5	350					0	0	0	0	A	119245170	G	A	119245170	3	1	13	1	0	0	0	0	1	0	0	0	9463	1086	38	1	768	1	MCM9	6	119245170	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	33775180	119245170	51869897	65	2949											
KIAA1244	57221	broad.mit.edu	37	chr6	138576900	138576900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggaagccatcaaaataatGaaagaggtgaggaggcactg	16	6	14	5	0	1	3	1	2	0	1	1	5	1	5	1	4	1	1	1	4	5	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:138576900G>A	ENST00000251691.4	+	10	1264	c.1098G>A	c.(1096-1098)atG>atA	p.M366I		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	366					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)		TCAAAATAATGAAAGAGGTGA	0.572													5	8					0	0	0	0	A	138576900	G	A	138576900	3	1	13	1	0	0	0	0	1	0	0	0	8268	1290	45	2	1136	2	KIAA1244	6	138576900	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	19331730	138576900	32538167	66	2950											
TTLL2	83887	broad.mit.edu	37	chr6	167754382	167754382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagatttttttcctaccttCgtagctgggatgtggacgat	7	15	11	8	2	0	1	0	0	0	1	2	4	1	3	2	2	2	3	2	2	2	6			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:167754382C>T	ENST00000239587.5	+	3	1082	c.994C>T	c.(994-996)Cgt>Tgt	p.R332C		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	332	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTCCTACCTTCGTAGCTGGGA	0.463													81	256					0	0	0	0	T	167754382	C	T	167754382	3	4	13	1	0	0	0	0	1	0	0	0	16823	884	31	1	1004	1	TTLL2	6	167754382	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	29177482	167754382	3360685	67	2951											
PDGFA	5154	broad.mit.edu	37	chr7	550596	550596	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgaggaatctcgtaaatGaccgtcctggtcttgcagac	9	10	10	12	3	2	2	0	1	2	1	5	4	4	3	3	2	1	2	3	2	3	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:550596G>T	ENST00000402802.3	-	4	710	c.303C>A	c.(301-303)gtC>gtA	p.V101V	PDGFA_ENST00000354513.5_Silent_p.V101V	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	101					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		TCTCGTAAATGACCGTCCTGG	0.667													3	35					1	1	1	0	T	550596	G	T	550596	2	4	13	1	0	0	0	0	0	0	0	1	11728	1277	45	2		2	PDGFA	7	550596	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08		550596	158588067	68	2952											
SDK1	221935	broad.mit.edu	37	chr7	4169596	4169596	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggagccacatcgtgcgaggGaaccacacgcagtcggccct	10	4	13	14	4	0	0	0	0	0	0	2	3	0	2	3	3	3	1	3	3	1	0			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:4169596G>A	ENST00000404826.2	+	27	4135	c.3996G>A	c.(3994-3996)ggG>ggA	p.G1332G	SDK1_ENST00000389531.3_Silent_p.G1332G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1332	Fibronectin type-III 7.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCGTGCGAGGGAACCACACGC	0.652													25	72					0	0	0	0	A	4169596	G	A	4169596	2	1	13	1	0	0	0	0	0	0	0	1	14055	1161	41	2		2	SDK1	7	4169596	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	3619000	4169596	154969067	69	2953											
MPP6	51678	broad.mit.edu	37	chr7	24727123	24727123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcatacaaccactattttGatttgatcatcataaatgat	15	14	5	7	0	2	3	2	3	0	0	2	4	2	3	1	0	3	1	1	0	5	6			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:24727123G>A	ENST00000396475.2	+	13	1812	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	MPP6_ENST00000409761.1_Missense_Mutation_p.D393N|MPP6_ENST00000222644.4_Missense_Mutation_p.D505N	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	505	Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CCACTATTTTGATTTGATCAT	0.378													46	186					0	0	0	0	A	24727123	G	A	24727123	3	1	13	1	0	0	0	0	1	0	0	0	9808	1290	45	2	1555	2	MPP6	7	24727123	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	20557527	24727123	134411540	70	2954											
HNRNPA2B1	3181	broad.mit.edu	37	chr7	26232925	26232925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaaagtttccactcttcaTtggaccgtagttagaaggtt	11	13	8	9	1	2	1	1	0	1	1	3	2	3	2	3	2	0	4	3	2	4	6			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:26232925T>C	ENST00000354667.4	-	10	1114	c.946A>G	c.(946-948)Atg>Gtg	p.M316V	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.M304V	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	316	Gly-rich.|Nuclear targeting sequence (By similarity).				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCACTCTTCATTGGACCGTAG	0.343			T	ETV1	prostate								4	176					0	0	0	0	C	26232925	T	C	26232925	3	2	13	1	0	0	0	0	1	0	0	0	7309	1493	52	5	123	5	HNRNPA2B1	7	26232925	Missense_Mutation	SNP	T	TCGA-BA-5558-01A-01D-1512-08	1505802	26232925	132905738	71	2955											
CBX3	11335	broad.mit.edu	37	chr7	26251377	26251377	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgatgtttctcatgaaatgGtgagtatgcagagattgtta	11	16	11	3	0	1	4	1	3	1	1	2	5	1	4	0	1	1	4	0	1	3	5			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:26251377G>C	ENST00000337620.4	+	5	853		c.e5+1		CBX3_ENST00000396386.2_Splice_Site|CBX3_ENST00000409747.1_Splice_Site	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3						chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TCATGAAATGGTGAGTATGCA	0.368													21	62					0	0	0	0	C	26251377	G	C	26251377	5	2	13	1	0	0	0	0	0	0	1	0	2744	1275	44	4	440	4	CBX3	7	26251377	Splice_Site	SNP	G	TCGA-BA-5558-01A-01D-1512-08	18452	26251377	132887286	72	2956											
SFRP4	6424	broad.mit.edu	37	chr7	37955829	37955829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctcgcagtcgtcgcgcGcgcgttggcacaccgacttg	4	7	16	14	8	0	0	0	0	0	0	3	1	0	0	1	3	0	4	1	3	0	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:37955829G>T	ENST00000436072.2	-	1	688	c.311C>A	c.(310-312)gCg>gAg	p.A104E	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	104	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A104V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTCGTCGCGCGCGCGTTGGCA	0.627													17	46					6.94344e-10	7.48992e-10	1	0	T	37955829	G	T	37955829	3	4	13	1	0	0	0	0	1	0	0	0	14250	1087	38	3	753	3	SFRP4	7	37955829	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	11704452	37955829	121182834	73	2957											
ADCY1	107	broad.mit.edu	37	chr7	45753466	45753466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcggaaaatgtgtccatttGggagagctggccttcagggc	9	10	14	8	1	1	1	1	0	0	1	3	3	2	2	2	4	1	1	2	4	2	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:45753466G>T	ENST00000297323.7	+	20	3254	c.3232G>T	c.(3232-3234)Ggg>Tgg	p.G1078W		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1078					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GTGTCCATTTGGGAGAGCTGG	0.602													30	111					1.74807e-11	1.89442e-11	1	0	T	45753466	G	T	45753466	3	4	13	1	0	0	0	0	1	0	0	0	292	1348	47	4	3310	4	ADCY1	7	45753466	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	7797637	45753466	113385197	74	2958											
NAA38	51691	broad.mit.edu	37	chr7	117828389	117828389	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttggatgaaagccatgaaCgagtattcagctcttcacag	12	12	9	8	1	3	2	2	2	1	0	3	4	3	3	1	1	3	2	1	1	3	5			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:117828389C>T	ENST00000424702.1	+	3	210	c.130C>T	c.(130-132)Cga>Tga	p.R44*	NAA38_ENST00000422760.1_Nonsense_Mutation_p.R23*|NAA38_ENST00000249299.2_Nonsense_Mutation_p.R44*			O95777	NAA38_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	44					nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AAGCCATGAACGAGTATTCAG	0.338													41	138					0	0	0	0	T	117828389	C	T	117828389	4	4	13	1	0	0	0	0	0	1	0	0	10194	528	19	1	140	1	NAA38	7	117828389	Nonsense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	72074923	117828389	41310274	75	2959											
AKR1B10	57016	broad.mit.edu	37	chr7	134216705	134216705	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccttgtgaggaaagcctttGagaagaccctcaaggacctg	11	8	11	11	0	1	3	1	2	0	2	1	6	1	5	4	2	1	0	4	2	3	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:134216705G>C	ENST00000359579.4	+	3	600	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	94					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GAAAGCCTTTGAGAAGACCCT	0.468													40	150					0	0	0	0	C	134216705	G	C	134216705	3	2	13	1	0	0	0	0	1	0	0	0	467	1291	45	2	290	2	AKR1B10	7	134216705	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	16388316	134216705	24921958	76	2960											
MGAM	8972	broad.mit.edu	37	chr7	141765212	141765212	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcttctggccgctgggcagGacattggctgggagacaaca	8	8	14	11	1	2	1	0	0	2	1	2	3	2	2	1	5	1	3	1	5	1	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:141765212G>C	ENST00000475668.2	+	38	4616	c.4562G>C	c.(4561-4563)gGa>gCa	p.G1521A	MGAM_ENST00000549489.2_Missense_Mutation_p.G1521A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1521	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGCTGGGCAGGACATTGGCTG	0.622													4	11					0	0	0	0	C	141765212	G	C	141765212	3	2	13	1	0	0	0	0	1	0	0	0	9610	1174	41	2	4708	2	MGAM	7	141765212	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	7548507	141765212	17373451	77	2961											
DPP6	1804	broad.mit.edu	37	chr7	154679393	154679393	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttccgtgcagcctctgcGttttccgagaggtacttggg	4	13	13	11	3	1	1	0	0	1	1	3	2	3	1	3	2	5	4	3	2	1	5			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:154679393G>A	ENST00000404039.1	+	23	2648	c.2061G>A	c.(2059-2061)gcG>gcA	p.A687A	DPP6_ENST00000377770.3_Silent_p.A751A|DPP6_ENST00000427557.1_Silent_p.A644A|DPP6_ENST00000332007.3_Silent_p.A689A	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	751					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAGCCTCTGCGTTTTCCGAGA	0.592													69	241					0	0	0	0	A	154679393	G	A	154679393	2	1	13	1	0	0	0	0	0	0	0	1	4766	1132	40	1		1	DPP6	7	154679393	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	12914181	154679393	4459270	78	2962											
CSMD3	114788	broad.mit.edu	37	chr8	113599423	113599423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtggataatttggagacaGcaaaattccttcattattcg	13	13	9	6	1	1	1	1	0	0	1	3	4	2	2	1	2	1	1	1	2	4	6			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:113599423G>A	ENST00000297405.5	-	23	4001	c.3757C>T	c.(3757-3759)Ctg>Ttg	p.L1253L	CSMD3_ENST00000343508.3_Silent_p.L1213L|CSMD3_ENST00000455883.2_Silent_p.L1149L|CSMD3_ENST00000352409.3_Silent_p.L1253L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1253	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGGAGACAGCAAAATTCCT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	222					0	0	0	0	A	113599423	G	A	113599423	2	1	13	1	0	0	0	0	0	0	0	1	3978	962	34	4		4	CSMD3	8	113599423	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08		113599423	32764599	79	2963											
TRPS1	7227	broad.mit.edu	37	chr8	116599315	116599315	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagacttctctccgccAgctggcgccccctgcaggaa	6	6	10	19	2	1	1	0	0	1	1	3	2	2	2	6	2	2	2	6	2	1	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:116599315A>C	ENST00000395715.3	-	5	3190	c.2613T>G	c.(2611-2613)gcT>gcG	p.A871A	TRPS1_ENST00000520276.1_Silent_p.A862A|TRPS1_ENST00000220888.5_Silent_p.A858A|TRPS1_ENST00000519076.1_Silent_p.A612A|TRPS1_ENST00000519674.1_Silent_p.A858A	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	858					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCTCTCCGCCAGCTGGCGCCC	0.577									Langer-Giedion syndrome				4	141					0	0	0	0	C	116599315	A	C	116599315	2	2	13	1	0	0	0	0	0	0	0	1	16688	175	7	5		5	TRPS1	8	116599315	Silent	SNP	A	TCGA-BA-5558-01A-01D-1512-08	2999892	116599315	29764707	80	2964											
HAS2	3037	broad.mit.edu	37	chr8	122641162	122641162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tataagtggctgatttgtctCtgcccatgacttcactgaag	9	14	9	9	0	2	3	1	3	1	0	3	3	2	3	1	1	1	1	1	1	3	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:122641162C>T	ENST00000303924.4	-	2	956	c.419G>A	c.(418-420)aGa>aAa	p.R140K		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	140						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGATTTGTCTCTGCCCATGAC	0.443													86	434					0	0	0	0	T	122641162	C	T	122641162	3	4	13	1	0	0	0	0	1	0	0	0	7012	913	32	2	1251	2	HAS2	8	122641162	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	6041847	122641162	23722860	81	2965											
FER1L6	654463	broad.mit.edu	37	chr8	124975615	124975615	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgcttctatctttcctgtCccctcagcttctccaaagag	7	14	6	14	0	4	1	1	0	3	1	7	2	6	1	4	0	2	2	4	0	2	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:124975615C>T	ENST00000522917.1	+	3	380	c.174C>T	c.(172-174)gtC>gtT	p.V58V	FER1L6_ENST00000399018.1_Silent_p.V58V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	58						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTTTCCTGTCCCCTCAGCTT	0.507													111	123					0	0	0	0	T	124975615	C	T	124975615	2	4	13	1	0	0	0	0	0	0	0	1	5860	842	30	2		2	FER1L6	8	124975615	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	2334453	124975615	21388407	82	2966											
HSF1	3297	broad.mit.edu	37	chr8	145533469	145533469	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatccaggtgtccaccctGaagagtgaagacataaagat	15	7	11	8	0	0	5	0	2	0	3	2	6	2	6	3	2	0	0	3	2	5	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:145533469G>A	ENST00000528838.1	+	4	535	c.375G>A	c.(373-375)ctG>ctA	p.L125L	HSF1_ENST00000400780.4_Silent_p.L60L	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	125						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGTCCACCCTGAAGAGTGAAG	0.597													18	117					0	0	0	0	A	145533469	G	A	145533469	2	1	13	1	0	0	0	0	0	0	0	1	7445	1277	45	2		2	HSF1	8	145533469	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	20557854	145533469	830553	83	2967											
SH3GL2	6456	broad.mit.edu	37	chr9	17791298	17791298	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacaagcaggcagtccagAtcctgcagcaagtcacggtc	12	5	10	14	1	1	1	1	0	0	1	4	1	3	1	3	2	3	4	3	2	2	0			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:17791298A>T	ENST00000380607.4	+	7	814	c.694A>T	c.(694-696)Atc>Ttc	p.I232F	SH3GL2_ENST00000537391.1_Missense_Mutation_p.I185F	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	232	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GGCAGTCCAGATCCTGCAGCA	0.433													34	131					0	0	0	0	T	17791298	A	T	17791298	3	4	13	1	0	0	0	0	1	0	0	0	14339	333	12	5	720	5	SH3GL2	9	17791298	Missense_Mutation	SNP	A	TCGA-BA-5558-01A-01D-1512-08		17791298	123422133	84	2968											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	12					0	0	0	0	A	21971120	G	A	21971120	4	1	13	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	4179822	21971120	119242311	85	2969											
LINGO2	158038	broad.mit.edu	37	chr9	27949543	27949543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacacataggttgctggccaCcaaactgcagggtgggctgt	9	8	13	11	0	0	0	0	0	0	0	0	0	0	0	2	4	3	4	2	4	2	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:27949543C>A	ENST00000379992.2	-	6	1576	c.1127G>T	c.(1126-1128)gGt>gTt	p.G376V	LINGO2_ENST00000308675.3_Missense_Mutation_p.G376V	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	376	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTGCTGGCCACCAAACTGCAG	0.527													4	66					0.00024832	0.000258297	1	0	A	27949543	C	A	27949543	3	1	13	1	0	0	0	0	1	0	0	0	8870	507	18	4	697	4	LINGO2	9	27949543	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	5978423	27949543	113263888	86	2970											
TRPM3	80036	broad.mit.edu	37	chr9	73254078	73254078	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccactctgtccagaactaaGgcatccaacatggcttgctc	10	10	7	14	0	1	1	0	0	1	1	5	1	4	1	3	2	3	3	3	2	3	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:73254078G>T	ENST00000377110.2	-	11	1722	c.1479C>A	c.(1477-1479)gcC>gcA	p.A493A	TRPM3_ENST00000377105.1_Silent_p.A340A|TRPM3_ENST00000358082.3_Silent_p.A365A|TRPM3_ENST00000408909.2_Silent_p.A340A|TRPM3_ENST00000396280.5_Silent_p.A340A|TRPM3_ENST00000377111.2_Silent_p.A493A|TRPM3_ENST00000396285.1_Silent_p.A340A|TRPM3_ENST00000360823.2_Silent_p.A365A|TRPM3_ENST00000396292.4_Silent_p.A365A|TRPM3_ENST00000423814.3_Silent_p.A520A|TRPM3_ENST00000357533.2_Silent_p.A495A|TRPM3_ENST00000377106.1_Silent_p.A365A	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	518						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCAGAACTAAGGCATCCAACA	0.448													4	109					0.014758	0.0151481	1	0	T	73254078	G	T	73254078	2	4	13	1	0	0	0	0	0	0	0	1	16682	987	35	4		4	TRPM3	9	73254078	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	45304535	73254078	67959353	87	2971											
GSN	2934	broad.mit.edu	37	chr9	124072998	124072998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggattcaagcacgtggtaCccaacgaggtggtggtgcag	10	7	15	9	2	1	0	1	0	0	0	1	2	1	1	1	5	4	3	1	5	3	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:124072998C>T	ENST00000373823.3	+	12	1293	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	GSN_ENST00000394353.2_Missense_Mutation_p.P141S|GSN_ENST00000449733.1_Missense_Mutation_p.P130S|GSN_ENST00000373818.4_Missense_Mutation_p.P181S|GSN_ENST00000545652.1_Missense_Mutation_p.P138S|GSN_ENST00000341272.2_Missense_Mutation_p.P130S|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000412819.1_Missense_Mutation_p.P130S|GSN_ENST00000373808.2_Missense_Mutation_p.P130S|GSN_ENST00000436847.1_Missense_Mutation_p.P141S			P06396	GELS_HUMAN	gelsolin	181	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GCACGTGGTACCCAACGAGGT	0.577													18	74					0	0	0	0	T	124072998	C	T	124072998	3	4	13	1	0	0	0	0	1	0	0	0	6875	507	18	4	583	4	GSN	9	124072998	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	50818920	124072998	17140433	88	2972											
GOLGA1	2800	broad.mit.edu	37	chr9	127684082	127684082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgacatctgattggagttCatcaactcctcctgggtacg	9	12	10	10	1	3	2	2	2	1	0	5	4	5	3	2	2	2	2	2	2	2	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:127684082C>T	ENST00000373555.4	-	9	984	c.651G>A	c.(649-651)atG>atA	p.M217I		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	217						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GATTGGAGTTCATCAACTCCT	0.438													54	213					0	0	0	0	T	127684082	C	T	127684082	3	4	13	1	0	0	0	0	1	0	0	0	6602	826	29	2	1712	2	GOLGA1	9	127684082	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	3611084	127684082	13529349	89	2973											
NUP188	23511	broad.mit.edu	37	chr9	131745261	131745261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtacagacctgtcgatagcaGactgtctcctgcccatcaca	10	9	8	14	1	2	2	1	0	1	2	4	3	2	2	3	0	3	2	3	0	2	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:131745261G>C	ENST00000372577.2	+	17	1771	c.1750G>C	c.(1750-1752)Gac>Cac	p.D584H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	584					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTCGATAGCAGACTGTCTCCT	0.522													50	186					0	0	0	0	C	131745261	G	C	131745261	3	2	13	1	0	0	0	0	1	0	0	0	10829	942	33	2	1816	2	NUP188	9	131745261	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	4061179	131745261	9468170	90	2974											
C9orf9	11092	broad.mit.edu	37	chr9	135759439	135759439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcactgcagggagaaCgcccacgacaagatccggcc	11	3	13	14	3	0	2	0	0	0	2	1	5	1	3	3	3	3	2	3	3	2	0	rs140311024	by1000genomes	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:135759439C>A	ENST00000372136.3	+	2	552	c.105C>A	c.(103-105)aaC>aaA	p.N35K	C9orf9_ENST00000350499.6_Missense_Mutation_p.N35K|C9orf9_ENST00000356311.5_Missense_Mutation_p.N35K			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	35								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		GCAGGGAGAACGCCCACGACA	0.617													3	72					0.115264	0.115761	1	0	A	135759439	C	A	135759439	3	1	13	1	0	0	0	0	1	0	0	0	2529	535	19	3	107	3	C9orf9	9	135759439	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	4014178	135759439	5453992	91	2975											
CAMK1D	57118	broad.mit.edu	37	chr10	12866500	12866500	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcaacaaaaacatccaCgagtccgtcagcgcccagat	13	5	7	16	3	2	1	2	0	0	1	4	2	4	1	4	0	3	0	4	0	3	0			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:12866500C>T	ENST00000378847.3	+	9	1207	c.870C>T	c.(868-870)caC>caT	p.H290H	CAMK1D_ENST00000378845.1_Silent_p.H290H	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	290	Autoinhibitory domain (By similarity).					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		AAAACATCCACGAGTCCGTCA	0.517													7	42					0	0	0	0	T	12866500	C	T	12866500	2	4	13	1	0	0	0	0	0	0	0	1	2622	535	19	1		1	CAMK1D	10	12866500	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08		12866500	122668247	92	2976											
RHOBTB1	9886	broad.mit.edu	37	chr10	62670718	62670718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgagagaaacactcacttCatcaacaacatcccgagaac	16	6	5	14	1	3	3	3	1	0	2	4	5	4	3	2	0	4	0	2	0	4	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:62670718C>T	ENST00000337910.5	-	4	560	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E75K	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	75	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ACACTCACTTCATCAACAACA	0.488													17	75					0	0	0	0	T	62670718	C	T	62670718	3	4	13	1	0	0	0	0	1	0	0	0	13416	835	29	2	1899	2	RHOBTB1	10	62670718	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	49804218	62670718	72864029	93	2977											
CCAR1	55749	broad.mit.edu	37	chr10	70520875	70520875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtagaggaacaaaaagaaGaacagaaggagttagagaaa	24	3	12	2	0	0	5	0	0	0	5	0	8	0	7	0	2	2	2	0	2	10	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:70520875G>C	ENST00000265872.6	+	16	2151	c.2032G>C	c.(2032-2034)Gaa>Caa	p.E678Q	CCAR1_ENST00000543719.1_Missense_Mutation_p.E663Q|CCAR1_ENST00000535016.1_Missense_Mutation_p.E663Q	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	678	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ACAAAAAGAAGAACAGAAGGA	0.348													33	99					0	0	0	0	C	70520875	G	C	70520875	3	2	13	1	0	0	0	0	1	0	0	0	2755	943	33	2	2090	2	CCAR1	10	70520875	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	7850157	70520875	65013872	94	2978											
USP54	159195	broad.mit.edu	37	chr10	75331188	75331188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtacttaccttgagagcGcaaaagatgcaggaatctcc	14	8	10	9	1	1	2	0	1	1	2	2	5	1	3	2	1	4	3	2	1	6	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:75331188G>A	ENST00000339859.4	-	3	331	c.231C>T	c.(229-231)tgC>tgT	p.C77C	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Silent_p.C77C|USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000319786.7_Silent_p.C77C			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	77					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCTTGAGAGCGCAAAAGATGC	0.433													4	134					0	0	0	0	A	75331188	G	A	75331188	2	1	13	1	0	0	0	0	0	0	0	1	17181	1079	38	1		1	USP54	10	75331188	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	4810313	75331188	60203559	95	2979											
TM9SF3	56889	broad.mit.edu	37	chr10	98311125	98311125	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgatggtctaaatacatctCcatgcacctgtttccatcca	10	14	5	12	0	2	1	0	1	2	0	5	1	4	1	4	1	2	2	4	1	3	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:98311125C>G	ENST00000371142.4	-	7	1052	c.836G>C	c.(835-837)gGa>gCa	p.G279A	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	279						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AAATACATCTCCATGCACCTG	0.353													34	157					0	0	0	0	G	98311125	C	G	98311125	3	3	13	1	0	0	0	0	1	0	0	0	16073	855	30	2	969	2	TM9SF3	10	98311125	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	22979937	98311125	37223622	96	2980											
POLL	27343	broad.mit.edu	37	chr10	103344392	103344392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggcttatggaagctcttGagggcattgatggccttggc	8	11	14	8	0	1	2	0	2	1	0	1	3	1	3	1	5	1	3	1	5	2	4	rs41540413		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:103344392G>A	ENST00000436284.2	-	3	631	c.431C>T	c.(430-432)tCa>tTa	p.S144L	POLL_ENST00000370158.3_Intron|POLL_ENST00000456836.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370162.3_Silent_p.L286L|POLL_ENST00000370169.1_Silent_p.L286L|DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Silent_p.L286L|POLL_ENST00000370172.1_Silent_p.L198L|POLL_ENST00000339310.3_Intron			Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	0					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGAAGCTCTTGAGGGCATTGA	0.562								DNA polymerases (catalytic subunits)					42	107					0	0	0	0	A	103344392	G	A	103344392	3	1	13	1	0	0	0	0	1	0	0	0	12277	1277	45	2	889	2	POLL	10	103344392	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	5033267	103344392	32190355	97	2981											
POLL	27343	broad.mit.edu	37	chr10	103344516	103344516	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattggtcgccttctggcttGagggctgtgcacagacccac	6	10	13	12	1	1	2	0	1	1	1	2	3	1	2	2	3	1	3	2	3	0	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:103344516G>C	ENST00000370162.3	-	5	1228	c.734C>G	c.(733-735)tCa>tGa	p.S245*	POLL_ENST00000436284.2_Missense_Mutation_p.Q103E|POLL_ENST00000370158.3_Intron|POLL_ENST00000456836.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Nonsense_Mutation_p.S245*|DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Nonsense_Mutation_p.S245*|POLL_ENST00000370172.1_Nonsense_Mutation_p.S157*|POLL_ENST00000339310.3_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	245					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CTTCTGGCTTGAGGGCTGTGC	0.582								DNA polymerases (catalytic subunits)					26	66					0	0	0	0	C	103344516	G	C	103344516	4	2	13	1	0	0	0	0	0	1	0	0	12277	1294	45	2	1013	2	POLL	10	103344516	Nonsense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	124	103344516	32190231	98	2982											
ACADSB	36	broad.mit.edu	37	chr10	124803982	124803982	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggagtctcaatgaaggtaGaataggaattgctgcacagg	14	8	14	5	0	1	2	1	1	1	1	2	4	1	4	0	4	2	3	0	4	6	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:124803982G>C	ENST00000358776.4	+	7	895	c.881G>C	c.(880-882)aGa>aCa	p.R294T	ACADSB_ENST00000368869.4_Missense_Mutation_p.R192T|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	294	Substrate binding.				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	AATGAAGGTAGAATAGGAATT	0.358													20	72					0	0	0	0	C	124803982	G	C	124803982	3	2	13	1	0	0	0	0	1	0	0	0	115	942	33	2	907	2	ACADSB	10	124803982	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	21459466	124803982	10730765	99	2983											
C10orf137	26098	broad.mit.edu	37	chr10	127414362	127414362	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttcatggcctgctcccttCgaaatgccttcttcagtttc	5	15	7	14	1	3	0	2	0	1	0	6	1	4	0	3	1	2	3	3	1	1	5	rs150180630	byFrequency	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:127414362C>T	ENST00000337623.3	+	6	852	c.747C>T	c.(745-747)ttC>ttT	p.F249F	C10orf137_ENST00000356792.4_Silent_p.F249F	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTGCTCCCTTCGAAATGCCTT	0.463													21	76					0	0	0	0	T	127414362	C	T	127414362	2	4	13	1	0	0	0	0	0	0	0	1	1604	883	31	1		1	C10orf137	10	127414362	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	2610380	127414362	8120385	100	2984											
OR52J3	119679	broad.mit.edu	37	chr11	5068023	5068023	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgggtatcttctggtttGatgctcacgagattaactat	8	16	10	7	1	3	2	1	1	2	1	3	3	3	2	0	2	3	4	0	2	3	5			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:5068023G>C	ENST00000380370.1	+	1	268	c.268G>C	c.(268-270)Gat>Cat	p.D90H		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCTGGTTTGATGCTCACGA	0.498													19	112					0	0	0	0	C	5068023	G	C	5068023	3	2	13	1	0	0	0	0	1	0	0	0	11193	1290	45	2	270	2	OR52J3	11	5068023	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08		5068023	129938493	101	2985											
KIF18A	81930	broad.mit.edu	37	chr11	28104463	28104463	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttggtcattttcattaGtgaaggctttctgttcttca	6	20	8	7	0	5	1	3	1	2	0	5	1	5	1	0	2	1	3	0	2	2	8			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:28104463G>C	ENST00000263181.6	-	9	1492	c.1202C>G	c.(1201-1203)aCt>aGt	p.T401S		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	401					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						ATTTTCATTAGTGAAGGCTTT	0.279													23	75					0	0	0	0	C	28104463	G	C	28104463	3	2	13	1	0	0	0	0	1	0	0	0	8331	1029	36	4	1530	4	KIF18A	11	28104463	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	23036440	28104463	106902053	102	2986											
APLNR	187	broad.mit.edu	37	chr11	57004030	57004030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacccaaagaactgccGtggccacggccccgctgacc	9	3	10	19	3	0	2	0	1	0	1	0	2	0	2	7	2	3	2	7	2	2	0			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:57004030G>A	ENST00000606794.1	-	1	645	c.449C>T	c.(448-450)aCg>aTg	p.T150M		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	150						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AAGAACTGCCGTGGCCACGGC	0.647													5	33					0	0	0	0	A	57004030	G	A	57004030	3	1	13	1	0	0	0	0	1	0	0	0	779	1145	40	1	697	1	APLNR	11	57004030	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	28899567	57004030	78002486	103	2987											
VWCE	220001	broad.mit.edu	37	chr11	61039224	61039224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaaccccgttgtcgtcaaGagagcagcctggatgaggac	10	7	12	12	2	2	2	2	1	0	1	3	5	2	4	3	2	3	2	3	2	2	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:61039224G>C	ENST00000335613.5	-	14	2094	c.1708C>G	c.(1708-1710)Ctt>Gtt	p.L570V	VWCE_ENST00000535710.1_Missense_Mutation_p.L35V	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	570	VWFC 4.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTGTCGTCAAGAGAGCAGCCT	0.532													2	16					0	0	0	0	C	61039224	G	C	61039224	3	2	13	1	0	0	0	0	1	0	0	0	17341	942	33	2	1187	2	VWCE	11	61039224	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	4035194	61039224	73967292	104	2988											
LGALS12	85329	broad.mit.edu	37	chr11	63283757	63283757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggagggctgaagctggcGctcaatgggcaggggctggg	7	5	22	7	1	1	1	1	1	0	0	1	3	1	2	0	7	1	5	0	7	2	0			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:63283757G>A	ENST00000415491.2	+	8	1334	c.720G>A	c.(718-720)gcG>gcA	p.A240A	LGALS12_ENST00000425950.2_Silent_p.A231A|LGALS12_ENST00000255684.5_Silent_p.A292A|LGALS12_ENST00000340246.5_Silent_p.A302A|LGALS12_ENST00000394618.3_Silent_p.A301A	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	301	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						TGAAGCTGGCGCTCAATGGGC	0.632													19	50					0	0	0	0	A	63283757	G	A	63283757	2	1	13	1	0	0	0	0	0	0	0	1	8792	1074	38	1		1	LGALS12	11	63283757	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	2244533	63283757	71722759	105	2989											
PYGM	5837	broad.mit.edu	37	chr11	64519416	64519416	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtacagggtgatgacaTggaggcagttgaggagctgt	9	10	18	4	0	0	3	0	3	0	0	0	5	0	5	0	5	2	5	0	5	1	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:64519416T>A	ENST00000164139.3	-	14	2146	c.1748A>T	c.(1747-1749)cAt>cTt	p.H583L	PYGM_ENST00000377432.3_Missense_Mutation_p.H495L|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	583					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGTGATGACATGGAGGCAGTT	0.517													20	95					0	0	0	0	A	64519416	T	A	64519416	3	1	13	1	0	0	0	0	1	0	0	0	12944	1464	51	5	808	5	PYGM	11	64519416	Missense_Mutation	SNP	T	TCGA-BA-5558-01A-01D-1512-08	1235659	64519416	70487100	106	2990											
CCDC67	159989	broad.mit.edu	37	chr11	93148192	93148192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgactgtgagccaaacaGaagtacaatgcctcccttgc	12	9	8	12	0	1	3	1	2	0	1	2	3	2	3	3	0	5	1	3	0	4	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:93148192G>A	ENST00000298050.3	+	13	1650	c.1550G>A	c.(1549-1551)aGa>aAa	p.R517K	CCDC67_ENST00000525646.1_Missense_Mutation_p.R259K	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	517										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GAGCCAAACAGAAGTACAATG	0.398													91	113					0	0	0	0	A	93148192	G	A	93148192	3	1	13	1	0	0	0	0	1	0	0	0	2866	942	33	2	1596	2	CCDC67	11	93148192	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	28628776	93148192	41858324	107	2991											
C11orf88	399949	broad.mit.edu	37	chr11	111385713	111385713	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcgtctgccggtggcgcgGcccaggaggagcagagggtc	6	4	19	12	4	1	1	0	0	1	1	2	3	1	3	2	6	3	1	2	6	0	0			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:111385713G>C	ENST00000529167.1	+	1	204	c.204G>C	c.(202-204)cgG>cgC	p.R68R	RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Silent_p.R68R|C11orf88_ENST00000332814.6_Silent_p.R68R			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	68										endometrium(1)|large_intestine(3)|lung(2)	6						CGGTGGCGCGGCCCAGGAGGA	0.602											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	70					0	0	0	0	C	111385713	G	C	111385713	2	2	13	1	0	0	0	0	0	0	0	1	1681	1190	42	4		4	C11orf88	11	111385713	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	18237521	111385713	23620803	108	2992											
SLC6A13	6540	broad.mit.edu	37	chr12	333247	333247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcttcttgcggaacacgtGagggtacatgtccaccagcg	8	10	12	11	3	2	1	0	1	2	0	3	2	3	2	2	2	4	2	2	2	2	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:333247G>A	ENST00000343164.4	-	11	1274	c.1222C>T	c.(1222-1224)Cac>Tac	p.H408Y	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Missense_Mutation_p.H316Y	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	408					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.H408N(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CGGAACACGTGAGGGTACATG	0.562													25	61					0	0	0	0	A	333247	G	A	333247	3	1	13	1	0	0	0	0	1	0	0	0	14764	1290	45	2	606	2	SLC6A13	12	333247	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08		333247	133518648	109	2993											
CHD4	1108	broad.mit.edu	37	chr12	6691446	6691446	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgaaaagagagacatatgCcctgtgtaaagaagtagaga	18	7	11	5	0	0	5	0	1	0	4	0	7	0	5	1	0	1	2	1	0	7	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:6691446C>T	ENST00000309577.6	-	29	4619	c.4454_splice	c.e29-1	p.A1486_splice	CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Splice_Site_p.A1451_splice|CHD4_ENST00000544484.1_Splice_Site_p.A1483_splice|CHD4_ENST00000357008.2_Splice_Site_p.A1458_splice			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1458					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GAGACATATGCCCTGTGTAAA	0.488													21	70					0	0	0	0	T	6691446	C	T	6691446	5	4	13	1	0	0	0	0	0	0	1	0	3356	753	26	4	1410	4	CHD4	12	6691446	Splice_Site	SNP	C	TCGA-BA-5558-01A-01D-1512-08	6358199	6691446	127160449	110	2994											
ATN1	1822	broad.mit.edu	37	chr12	7045557	7045557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccatgaggtttccttattCatcctctagtagtagctctg	7	15	7	12	0	3	1	1	1	2	0	5	1	5	1	4	1	1	4	4	1	4	6			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:7045557C>T	ENST00000356654.4	+	5	1364	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L	ATN1_ENST00000396684.2_Missense_Mutation_p.S376L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	376	Poly-Ser.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TTTCCTTATTCATCCTCTAGT	0.602													44	134					0	0	0	0	T	7045557	C	T	7045557	3	4	13	1	0	0	0	0	1	0	0	0	1115	838	29	2	1141	2	ATN1	12	7045557	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	354111	7045557	126806338	111	2995											
ESPL1	9700	broad.mit.edu	37	chr12	53680494	53680494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggcgccaaaagttagcctCtgctcccctgcgcctcaata	9	8	9	15	2	2	0	1	0	1	0	3	0	3	0	5	1	3	2	5	1	5	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:53680494C>T	ENST00000257934.4	+	18	4065	c.3974C>T	c.(3973-3975)tCt>tTt	p.S1325F	ESPL1_ENST00000552462.1_Missense_Mutation_p.S1325F	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1325					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AAGTTAGCCTCTGCTCCCCTG	0.562													16	49					0	0	0	0	T	53680494	C	T	53680494	3	4	13	1	0	0	0	0	1	0	0	0	5291	913	32	2	4040	2	ESPL1	12	53680494	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	46634937	53680494	80171401	112	2996											
ARHGAP9	64333	broad.mit.edu	37	chr12	57872434	57872434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agattgtcagtgctgacgctCctacacattttgcggggaag	9	11	12	9	2	1	2	1	1	0	1	2	3	2	3	1	2	3	2	1	2	2	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:57872434C>G	ENST00000393797.2	-	6	828	c.636G>C	c.(634-636)agG>agC	p.R212S	ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R141S|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R220S|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R141S|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R141S			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	141					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TGCTGACGCTCCTACACATTT	0.577													38	158					0	0	0	0	G	57872434	C	G	57872434	3	3	13	1	0	0	0	0	1	0	0	0	891	854	30	2	1836	2	ARHGAP9	12	57872434	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	4191940	57872434	75979461	113	2997											
FAM19A2	338811	broad.mit.edu	37	chr12	62261196	62261196	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttgctttctgtaagtatCtcttactcatcctgcaaata	9	18	5	9	0	3	0	1	0	2	0	5	0	4	0	1	0	3	5	1	0	5	7			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:62261196C>G	ENST00000416284.3	-	2	1595	c.11G>C	c.(10-12)aGa>aCa	p.R4T	FAM19A2_ENST00000551619.1_Missense_Mutation_p.R4T|FAM19A2_ENST00000551449.1_Missense_Mutation_p.R4T	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	4						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CTGTAAGTATCTCTTACTCAT	0.313													23	113					0	0	0	0	G	62261196	C	G	62261196	3	3	13	1	0	0	0	0	1	0	0	0	5575	913	32	2	400	2	FAM19A2	12	62261196	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	4388762	62261196	71590699	114	2998											
CPM	1368	broad.mit.edu	37	chr12	69250400	69250400	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttaagagcactgaagttCtgggatttctccggaataat	11	15	9	6	1	2	2	0	1	2	1	3	4	2	4	1	2	1	2	1	2	4	6			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:69250400C>T	ENST00000551568.1	-	9	1209	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	CPM_ENST00000546373.1_Silent_p.Q383Q|CPM_ENST00000338356.3_Silent_p.Q383Q	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	383					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CACTGAAGTTCTGGGATTTCT	0.393													32	124					0	0	0	0	T	69250400	C	T	69250400	2	4	13	1	0	0	0	0	0	0	0	1	3838	912	32	2		2	CPM	12	69250400	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	6989204	69250400	64601495	115	2999											
CDK17	5128	broad.mit.edu	37	chr12	96691104	96691104	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccatgtactgtttcaggtCtttatcctggaaaaacacag	12	13	7	9	0	2	0	1	0	1	0	4	1	4	1	2	2	2	2	2	2	4	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:96691104C>G	ENST00000261211.3	-	9	1420	c.817G>C	c.(817-819)Gac>Cac	p.D273H	CDK17_ENST00000543119.2_Missense_Mutation_p.D273H|CDK17_ENST00000542666.1_Missense_Mutation_p.D220H|CDK17_ENST00000553042.1_5'UTR	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	273	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TGTTTCAGGTCTTTATCCTGG	0.338													9	67					0	0	0	0	G	96691104	C	G	96691104	3	3	13	1	0	0	0	0	1	0	0	0	3162	913	32	2	828	2	CDK17	12	96691104	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	27440704	96691104	37160791	116	3000											
MYBPC1	4604	broad.mit.edu	37	chr12	102046500	102046500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccctcactgaagatgaagGtgattatgtatttgcacctg	10	13	10	8	0	1	4	1	3	0	1	1	4	1	4	2	1	2	2	2	1	4	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:102046500G>C	ENST00000549145.1	+	16	1635	c.1535G>C	c.(1534-1536)gGt>gCt	p.G512A	MYBPC1_ENST00000392934.3_Missense_Mutation_p.G486A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G524A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G524A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G499A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G480A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G473A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.G499A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.G400A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G485A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G499A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G499A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G487A|MYBPC1_ENST00000550270.1_Missense_Mutation_p.G499A|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G499A|MYBPC1_ENST00000550501.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	499	Ig-like C2-type 4.				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						GAAGATGAAGGTGATTATGTA	0.358													54	199					0	0	0	0	C	102046500	G	C	102046500	3	2	13	1	0	0	0	0	1	0	0	0	10081	1261	44	4	1637	4	MYBPC1	12	102046500	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	5355396	102046500	31805395	117	3001											
STAB2	55576	broad.mit.edu	37	chr12	104064480	104064480	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctttgctcccagtgtgcaGatagcctcggcggcaacggg	6	8	14	13	3	0	1	0	0	0	1	2	1	1	1	3	3	4	3	3	3	2	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:104064480G>C	ENST00000388887.2	+	22	2470	c.2266G>C	c.(2266-2268)Gat>Cat	p.D756H		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	756	EGF-like 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAGTGTGCAGATAGCCTCGG	0.502													11	28					0	0	0	0	C	104064480	G	C	104064480	3	2	13	1	0	0	0	0	1	0	0	0	15328	942	33	2	2352	2	STAB2	12	104064480	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	2017980	104064480	29787415	118	3002											
CKAP4	10970	broad.mit.edu	37	chr12	106633144	106633144	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcgcccacactcctcttCagctcctccacgtcaccgta	7	9	5	20	3	3	0	2	0	1	0	7	0	6	0	5	0	2	3	5	0	1	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:106633144C>T	ENST00000378026.4	-	2	1603	c.1467G>A	c.(1465-1467)ctG>ctA	p.L489L		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	489						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CACTCCTCTTCAGCTCCTCCA	0.662													32	89					0	0	0	0	T	106633144	C	T	106633144	2	4	13	1	0	0	0	0	0	0	0	1	3474	813	29	2		2	CKAP4	12	106633144	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	2568664	106633144	27218751	119	3003											
PXMP2	5827	broad.mit.edu	37	chr12	133281274	133281274	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctccttggggaagtgaCgaccgctgggagaacatcag	9	7	15	10	2	1	2	1	1	0	1	2	5	2	3	3	4	1	1	3	4	2	1	rs143659699	byFrequency	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:133281274C>G	ENST00000545677.1	+	4	406	c.203C>G	c.(202-204)aCg>aGg	p.T68R	RP13-672B3.2_ENST00000537262.1_Missense_Mutation_p.T68R|PXMP2_ENST00000543589.1_Missense_Mutation_p.D102E|PXMP2_ENST00000428960.2_Missense_Mutation_p.T149R|PXMP2_ENST00000539093.1_Missense_Mutation_p.T68R|PXMP2_ENST00000317479.3_3'UTR			Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	0						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GGGGAAGTGACGACCGCTGGG	0.597													3	128					0	0	0	0	G	133281274	C	G	133281274	3	3	13	1	0	0	0	0	1	0	0	0	12932	551	19	3	607	3	PXMP2	12	133281274	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	26648130	133281274	570621	120	3004											
SLC7A1	6541	broad.mit.edu	37	chr13	30096553	30096553	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccatcctcagccatggCatagataacccgaggcatgg	11	7	10	13	1	1	1	1	0	0	1	3	2	3	1	4	3	2	2	4	3	2	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr13:30096553C>G	ENST00000380752.5	-	8	1476	c.1090G>C	c.(1090-1092)Gcc>Ccc	p.A364P		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	364					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCAGCCATGGCATAGATAACC	0.498													30	150					0	0	0	0	G	30096553	C	G	30096553	3	3	13	1	0	0	0	0	1	0	0	0	14780	710	25	4	823	4	SLC7A1	13	30096553	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08		30096553	85073325	121	3005											
PCDH9	5101	broad.mit.edu	37	chr13	67800883	67800883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggctattgtcattctcatCcagaacagtaacaatcacag	13	10	8	10	0	3	1	3	0	1	1	5	1	4	1	1	2	2	2	1	2	4	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr13:67800883C>A	ENST00000544246.1	-	2	2381	c.1690G>T	c.(1690-1692)Gat>Tat	p.D564Y	PCDH9_ENST00000377865.2_Missense_Mutation_p.D564Y|PCDH9_ENST00000328454.5_Missense_Mutation_p.D564Y|PCDH9_ENST00000377861.3_Missense_Mutation_p.D564Y|PCDH9_ENST00000456367.1_Missense_Mutation_p.D564Y	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	564	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCATTCTCATCCAGAACAGTA	0.428													33	155					1.74807e-11	1.89442e-11	1	0	A	67800883	C	A	67800883	3	1	13	1	0	0	0	0	1	0	0	0	11589	855	30	2	2039	2	PCDH9	13	67800883	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	37704330	67800883	47368995	122	3006											
RBM26	64062	broad.mit.edu	37	chr13	79933752	79933752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggaactccaggctctccaGaaccaatggttcttttcctt	9	13	7	12	0	2	1	0	0	2	1	5	2	4	2	4	3	2	2	4	3	4	5			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr13:79933752G>A	ENST00000438737.2	-	10	1927	c.1487C>T	c.(1486-1488)tCt>tTt	p.S496F	RBM26_ENST00000438724.1_Missense_Mutation_p.S496F|RBM26_ENST00000267229.7_Missense_Mutation_p.S496F			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	496					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		AGGCTCTCCAGAACCAATGGT	0.363													70	202					0	0	0	0	A	79933752	G	A	79933752	3	1	13	1	0	0	0	0	1	0	0	0	13208	942	33	2	1503	2	RBM26	13	79933752	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	12132869	79933752	35236126	123	3007											
TGDS	23483	broad.mit.edu	37	chr13	95233394	95233394	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacattcagcagctgctttaGatgatgcataaggatttgta	13	13	9	6	0	1	2	1	1	0	1	1	3	1	3	0	1	5	5	0	1	4	6			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr13:95233394G>C	ENST00000261296.5	-	6	626	c.506C>G	c.(505-507)tCt>tGt	p.S169C	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	169					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AGCTGCTTTAGATGATGCATA	0.299													16	77					0	0	0	0	C	95233394	G	C	95233394	3	2	13	1	0	0	0	0	1	0	0	0	15908	942	33	2	574	2	TGDS	13	95233394	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	15299642	95233394	19936484	124	3008											
HOMEZ	57594	broad.mit.edu	37	chr14	23745733	23745733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgactggttgggacccCtgcctgcctgctcctttgag	4	12	12	13	0	0	2	0	2	0	0	1	3	1	3	5	2	3	2	5	2	0	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:23745733C>T	ENST00000357460.5	-	2	868	c.704G>A	c.(703-705)aGg>aAg	p.R235K	HOMEZ_ENST00000431326.2_Missense_Mutation_p.R237K|HOMEZ_ENST00000561013.1_Missense_Mutation_p.R237K	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	235						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTTGGGACCCCTGCCTGCCTG	0.542													37	105					0	0	0	0	T	23745733	C	T	23745733	3	4	13	1	0	0	0	0	1	0	0	0	7331	681	24	4	952	4	HOMEZ	14	23745733	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08		23745733	83603807	125	3009											
SLC22A17	51310	broad.mit.edu	37	chr14	23816792	23816792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaagaaggatgccccGgcggccaaatcggtccacgg	11	3	16	11	4	0	2	0	0	0	2	2	5	1	4	4	6	1	0	4	6	3	0			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:23816792G>A	ENST00000354772.3	-	8	1596	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.R365W|SLC22A17_ENST00000397260.3_Missense_Mutation_p.R254W|SLC22A17_ENST00000206544.8_Missense_Mutation_p.R365W	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	365					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGGATGCCCCGGCGGCCAAAT	0.632													24	62					0	0	0	0	A	23816792	G	A	23816792	3	1	13	1	0	0	0	0	1	0	0	0	14536	1115	39	1	535	1	SLC22A17	14	23816792	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	71059	23816792	83532748	126	3010											
CLMN	79789	broad.mit.edu	37	chr14	95670229	95670229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcaccagcgaccttgtcaGaggaggattctggaatcttc	9	11	11	10	1	4	1	2	0	2	1	5	5	4	4	2	3	1	0	2	3	1	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:95670229G>A	ENST00000298912.4	-	9	1570	c.1457C>T	c.(1456-1458)tCt>tTt	p.S486F		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	486						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GACCTTGTCAGAGGAGGATTC	0.468													25	50					0	0	0	0	A	95670229	G	A	95670229	3	1	13	1	0	0	0	0	1	0	0	0	3572	942	33	2	1571	2	CLMN	14	95670229	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	71853437	95670229	11679311	127	3011											
PACS2	23241	broad.mit.edu	37	chr14	105850745	105850745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactaccgctacaacaacttCttccaggacctggcctggag	10	8	9	14	1	1	0	0	0	1	0	2	3	2	2	4	3	4	1	4	3	4	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:105850745C>G	ENST00000447393.1	+	17	2011	c.1836C>G	c.(1834-1836)ttC>ttG	p.F612L	PACS2_ENST00000430725.2_Missense_Mutation_p.F533L|PACS2_ENST00000547217.1_Missense_Mutation_p.F578L|PACS2_ENST00000551743.1_Missense_Mutation_p.F122L|PACS2_ENST00000458164.2_Missense_Mutation_p.F612L|PACS2_ENST00000325438.8_Missense_Mutation_p.F608L	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	608					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACAACAACTTCTTCCAGGACC	0.677													12	35					0	0	0	0	G	105850745	C	G	105850745	3	3	13	1	0	0	0	0	1	0	0	0	11444	912	32	2	1902	2	PACS2	14	105850745	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	10180516	105850745	1498795	128	3012											
RASL12	51285	broad.mit.edu	37	chr15	65357567	65357567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttacccaagttggggtCatattcactgataaacctct	10	15	6	10	0	4	1	2	1	2	0	4	1	4	1	2	2	2	1	2	2	5	6			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr15:65357567C>T	ENST00000220062.4	-	2	424	c.148G>A	c.(148-150)Gac>Aac	p.D50N	RASL12_ENST00000421977.3_Intron|RASL12_ENST00000434605.2_Missense_Mutation_p.D39N	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	50					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						AAGTTGGGGTCATATTCACTG	0.572													8	20					0	0	0	0	T	65357567	C	T	65357567	3	4	13	1	0	0	0	0	1	0	0	0	13165	826	29	2	668	2	RASL12	15	65357567	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08		65357567	37173825	129	3013											
MEX3B	84206	broad.mit.edu	37	chr15	82336835	82336835	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcggcagcagagatgatctCcctccgagccatggccacat	9	7	10	15	2	1	2	0	1	1	1	4	4	2	2	4	2	2	2	4	2	0	0			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr15:82336835C>A	ENST00000329713.4	-	2	811	c.376G>T	c.(376-378)Gag>Tag	p.E126*	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	126	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GAGATGATCTCCCTCCGAGCC	0.627													3	44					0.115264	0.115761	1	0	A	82336835	C	A	82336835	4	1	13	1	0	0	0	0	0	1	0	0	9579	864	30	2	1337	2	MEX3B	15	82336835	Nonsense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	16979268	82336835	20194557	130	3014											
WHAMM	123720	broad.mit.edu	37	chr15	83495204	83495204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttcagattgcaacaggctGaagaaagcataagatactct	15	9	10	7	0	2	4	1	1	1	3	2	4	2	4	0	2	4	4	0	2	5	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr15:83495204G>A	ENST00000286760.4	+	7	1600	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	501						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						GCAACAGGCTGAAGAAAGCAT	0.408													37	133					0	0	0	0	A	83495204	G	A	83495204	3	1	13	1	0	0	0	0	1	0	0	0	17457	1291	45	2	1527	2	WHAMM	15	83495204	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	1158369	83495204	19036188	131	3015											
ZNF592	9640	broad.mit.edu	37	chr15	85341666	85341666	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtgccctgagtgcccactCttgttcgtgcagaagccgga	8	9	12	12	2	1	2	0	1	1	1	2	3	1	3	3	1	4	2	3	1	2	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr15:85341666C>G	ENST00000299927.3	+	4	2719	c.2697C>G	c.(2695-2697)ctC>ctG	p.L899L	ZNF592_ENST00000560079.2_Silent_p.L899L			Q92610	ZN592_HUMAN	zinc finger protein 592	899					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGTGCCCACTCTTGTTCGTGC	0.567													29	60					0	0	0	0	G	85341666	C	G	85341666	2	3	13	1	0	0	0	0	0	0	0	1	18117	900	32	2		2	ZNF592	15	85341666	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	1846462	85341666	17189726	132	3016											
AGBL1	123624	broad.mit.edu	37	chr15	87097594	87097594	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtttttactgtagacTcttcccaaaatccttgataa	10	19	4	8	0	1	2	0	1	1	1	3	2	3	2	2	0	1	2	2	0	5	9			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr15:87097594T>C	ENST00000441037.2	+	20	2777	c.2682T>C	c.(2680-2682)acT>acC	p.T894T	AGBL1_ENST00000389298.3_Silent_p.T625T|AGBL1_ENST00000421325.2_Silent_p.T894T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	894					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TACTGTAGACTCTTCCCAAAA	0.418													4	7					0	0	0	0	C	87097594	T	C	87097594	2	2	13	1	0	0	0	0	0	0	0	1	375	1538	54	5		5	AGBL1	15	87097594	Silent	SNP	T	TCGA-BA-5558-01A-01D-1512-08	1755928	87097594	15433798	133	3017											
WDR90	197335	broad.mit.edu	37	chr16	711778	711778	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagcgtggggcagacatCagccttcaggtgccacccgt	8	6	13	14	2	2	1	2	0	0	1	2	1	2	1	3	3	4	2	3	3	0	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:711778C>T	ENST00000549091.1	+	31	3947	c.3855C>T	c.(3853-3855)atC>atT	p.I1285I	WDR90_ENST00000293879.4_Silent_p.I1285I	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1285										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGCAGACATCAGCCTTCAGG	0.647													32	101					0	0	0	0	T	711778	C	T	711778	2	4	13	1	0	0	0	0	0	0	0	1	17433	816	29	2		2	WDR90	16	711778	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08		711778	89642975	134	3018											
WDR90	197335	broad.mit.edu	37	chr16	716485	716485	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggggtggagggcacagacCtatggctggctgccagtggg	7	7	19	8	0	0	1	0	0	0	1	0	2	0	2	2	7	1	3	2	7	2	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:716485C>T	ENST00000549091.1	+	38	4869	c.4777C>T	c.(4777-4779)Cta>Tta	p.L1593L	WDR90_ENST00000547944.1_Silent_p.L190L|WDR90_ENST00000293879.4_Silent_p.L1591L|WDR90_ENST00000315764.4_Intron|WDR90_ENST00000547543.1_3'UTR	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1591								p.L1591V(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGCACAGACCTATGGCTGGC	0.632													13	36					0	0	0	0	T	716485	C	T	716485	2	4	13	1	0	0	0	0	0	0	0	1	17433	680	24	4		4	WDR90	16	716485	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	4707	716485	89638268	135	3019											
GLYR1	84656	broad.mit.edu	37	chr16	4863755	4863755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgggccagctcagtgaCggtgtcagcgtccactgttg	6	10	13	12	2	2	1	2	1	0	0	3	1	3	1	3	2	3	2	3	2	1	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:4863755C>T	ENST00000321919.9	-	12	1178	c.1102G>A	c.(1102-1104)Gtc>Atc	p.V368I	GLYR1_ENST00000436648.5_Missense_Mutation_p.V287I|GLYR1_ENST00000381983.3_Missense_Mutation_p.V351I|GLYR1_ENST00000591451.1_Missense_Mutation_p.V362I	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	368					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						AGCTCAGTGACGGTGTCAGCG	0.592													6	29					0	0	0	0	T	4863755	C	T	4863755	3	4	13	1	0	0	0	0	1	0	0	0	6534	536	19	1	579	1	GLYR1	16	4863755	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	4147270	4863755	85490998	136	3020											
TMC7	79905	broad.mit.edu	37	chr16	19063127	19063127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaataatacctctgacaatCagcatatcacggtaaatgtg	15	10	7	9	1	3	1	2	1	1	0	3	1	3	1	1	1	2	3	1	1	7	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:19063127C>G	ENST00000421369.3	+	13	2088	c.1530C>G	c.(1528-1530)atC>atG	p.I510M	TMC7_ENST00000304381.5_Missense_Mutation_p.I620M|TMC7_ENST00000569532.1_Missense_Mutation_p.I620M	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	620						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTCTGACAATCAGCATATCAC	0.413													70	316					0	0	0	0	G	19063127	C	G	19063127	3	3	13	1	0	0	0	0	1	0	0	0	16084	816	29	2	1910	2	TMC7	16	19063127	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	14199372	19063127	71291626	137	3021											
SEPHS2	22928	broad.mit.edu	37	chr16	30456439	30456439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgccgtccctccttcctCagccgcatcccgaaagcctt	6	9	6	20	3	1	0	1	0	0	0	5	1	5	0	7	0	3	1	7	0	1	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:30456439C>T	ENST00000478753.2	-	1	1063	c.610G>A	c.(610-612)Gag>Aag	p.E204K	SEPHS2_ENST00000500504.2_Missense_Mutation_p.E204K|SEPHS2_ENST00000542752.1_Missense_Mutation_p.E147K			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	204					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CCTCCTTCCTCAGCCGCATCC	0.517													34	106					0	0	0	0	T	30456439	C	T	30456439	3	4	13	1	0	0	0	0	1	0	0	0	14142	835	29	2	740	2	SEPHS2	16	30456439	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	11393312	30456439	59898314	138	3022											
SEPHS2	22928	broad.mit.edu	37	chr16	30456870	30456870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgcgggaccttgcagcctCagcccttcatgccggagaag	7	7	12	15	2	2	1	2	0	0	1	2	3	2	2	5	2	5	1	5	2	1	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:30456870C>T	ENST00000478753.2	-	1	632	c.179G>A	c.(178-180)tGa>tAa	p.*60*	SEPHS2_ENST00000500504.2_Silent_p.*60*|SEPHS2_ENST00000542752.1_Intron			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	60					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CTTGCAGCCTCAGCCCTTCAT	0.726													5	6					0	0	0	0	T	30456870	C	T	30456870	2	4	13	1	0	0	0	0	0	0	0	1	14142	837	29	2		2	SEPHS2	16	30456870	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	431	30456870	59897883	139	3023											
SETD1A	9739	broad.mit.edu	37	chr16	30976423	30976423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagggcccagccctgagagaGaagaagttcggacttccccc	10	5	13	13	1	0	3	0	1	0	3	2	7	1	4	4	2	1	1	4	2	2	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:30976423G>A	ENST00000262519.8	+	7	2046	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	454	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCCTGAGAGAGAAGAAGTTCG	0.697													11	41					0	0	0	0	A	30976423	G	A	30976423	3	1	13	1	0	0	0	0	1	0	0	0	14217	943	33	2	1382	2	SETD1A	16	30976423	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	519553	30976423	59378330	140	3024											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53730193	53730193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgagacttcattgtccGtgttgttgaagtttctgcaa	7	15	11	8	2	2	2	1	1	1	1	3	3	3	2	1	1	1	4	1	1	2	5			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:53730193G>A	ENST00000262135.4	-	3	193	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R34W	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	34					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TTCATTGTCCGTGTTGTTGAA	0.373													65	230					0	0	0	0	A	53730193	G	A	53730193	3	1	13	1	0	0	0	0	1	0	0	0	13635	1144	40	1	3947	1	RPGRIP1L	16	53730193	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	22753770	53730193	36624560	141	3025											
ZNF319	57567	broad.mit.edu	37	chr16	58031982	58031982	+	Frame_Shift_Del	DEL	G	G	-																															cctgcaggggtgcgtgttgtGggggctgcaggccggggtct																										TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:58031982delG	ENST00000299237.2	-	2	810	c.188delC	c.(187-189)cafs	p.P63fs		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	63	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TGCGTGTTGTGGGGGCTGCAG	0.687													20	62	---	---	---	---					-	58031982	G	-	58031982	7	5	13	1	0	1	0	1	0	0	0	0	17932	1348	47	0	1564	0	ZNF319	16	58031982	Frame_Shift_Del	DEL	G	TCGA-BA-5558-01A-01D-1512-08	4301789	58031982	32322771	142	3026											
CNOT1	23019	broad.mit.edu	37	chr16	58608533	58608533	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacaagcttgcagacaGgccaacattgtcgccaaagt	12	7	9	13	1	0	1	0	0	0	1	1	1	0	1	3	1	4	3	3	1	3	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:58608533G>C	ENST00000317147.5	-	16	2291	c.1959C>G	c.(1957-1959)gcC>gcG	p.A653A	CNOT1_ENST00000569240.1_Silent_p.A653A|CNOT1_ENST00000441024.2_Silent_p.A653A	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	653					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTTGCAGACAGGCCAACATTG	0.423													32	105					0	0	0	0	C	58608533	G	C	58608533	2	2	13	1	0	0	0	0	0	0	0	1	3647	987	35	4		4	CNOT1	16	58608533	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	576551	58608533	31746220	143	3027											
FUK	197258	broad.mit.edu	37	chr16	70513582	70513582	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctgttgccctttcccatGaagctggcttctctctgcaa	7	13	7	14	0	2	1	0	1	2	0	4	1	3	1	3	1	4	4	3	1	3	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:70513582G>A	ENST00000288078.6	+	24	3486	c.3254G>A	c.(3253-3255)tGa>tAa	p.*1085*	FUK_ENST00000571514.1_Silent_p.*576*|FUK_ENST00000378912.2_Silent_p.*1091*	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	0						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTTTCCCATGAAGCTGGCTT	0.592													13	45					0	0	0	0	A	70513582	G	A	70513582	2	1	13	1	0	0	0	0	0	0	0	1	6144	1285	45	2		2	FUK	16	70513582	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	11905049	70513582	19841171	144	3028											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	53					0	0	0	0	A	7577094	G	A	7577094	3	1	13	1	0	0	0	0	1	0	0	0	16476	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08		7577094	73618116	145	3029											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	71					0	0	0	0	T	7578406	C	T	7578406	3	4	13	1	0	0	0	0	1	0	0	0	16476	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	1312	7578406	73616804	146	3030											
ALOX12B	242	broad.mit.edu	37	chr17	7983140	7983140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggaacggagccaccatgtCgtctgtgacggggaacttgt	9	8	14	10	3	1	1	0	1	1	0	2	4	1	4	2	4	3	0	2	4	2	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:7983140C>T	ENST00000319144.4	-	7	1134	c.874G>A	c.(874-876)Gac>Aac	p.D292N	AC129492.6_ENST00000399413.3_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	292	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCCACCATGTCGTCTGTGACG	0.677										Multiple Myeloma(8;0.094)			13	35					0	0	0	0	T	7983140	C	T	7983140	3	4	13	1	0	0	0	0	1	0	0	0	537	884	31	1	1267	1	ALOX12B	17	7983140	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	404734	7983140	73212070	147	3031											
ALOX12B	242	broad.mit.edu	37	chr17	7983186	7983186	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccgcgtgcagcggcggatCaggccggggttgacgccgtt	5	7	17	12	7	1	1	1	1	0	0	2	2	2	2	3	5	2	3	3	5	0	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:7983186C>G	ENST00000319144.4	-	7	1088	c.828G>C	c.(826-828)ctG>ctC	p.L276L	AC129492.6_ENST00000399413.3_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	276	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGCGGCGGATCAGGCCGGGGT	0.652										Multiple Myeloma(8;0.094)			7	35					0	0	0	0	G	7983186	C	G	7983186	2	3	13	1	0	0	0	0	0	0	0	1	537	813	29	2		2	ALOX12B	17	7983186	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	46	7983186	73212024	148	3032											
DNAH9	1770	broad.mit.edu	37	chr17	11738200	11738200	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcagcgcaggcagctctCaacaccctgaacaaggtagg	13	4	11	13	1	1	1	1	1	1	0	2	1	1	1	1	3	5	5	1	3	4	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:11738200C>G	ENST00000262442.3	+	49	9560	c.9492C>G	c.(9490-9492)ctC>ctG	p.L3164L	DNAH9_ENST00000454412.2_Silent_p.L3164L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3164	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGCAGCTCTCAACACCCTGA	0.572													4	31					0	0	0	0	G	11738200	C	G	11738200	2	3	13	1	0	0	0	0	0	0	0	1	4644	813	29	2		2	DNAH9	17	11738200	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	3755014	11738200	69457010	149	3033											
NAGLU	4669	broad.mit.edu	37	chr17	40689478	40689478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtggtgggactgggcccGctgggagcgagagatagact	7	7	19	8	3	0	2	0	0	0	2	0	6	0	4	1	4	1	1	1	4	1	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:40689478G>A	ENST00000225927.2	+	2	547	c.446G>A	c.(445-447)cGc>cAc	p.R149H	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	149						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GACTGGGCCCGCTGGGAGCGA	0.627													4	133					0	0	0	0	A	40689478	G	A	40689478	3	1	13	1	0	0	0	0	1	0	0	0	10213	1087	38	1	452	1	NAGLU	17	40689478	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	28951278	40689478	40505732	150	3034											
COX11	1353	broad.mit.edu	37	chr17	53040725	53040725	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caatattgtatgtagaaattCcaattactggtttgtcagta	13	16	7	5	0	1	1	1	0	0	1	2	1	2	1	1	1	1	4	1	1	8	8			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:53040725C>G	ENST00000299335.3	-	3	728	c.590G>C	c.(589-591)gGa>gCa	p.G197A	COX11_ENST00000571584.1_Missense_Mutation_p.G197A	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	197					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						TGTAGAAATTCCAATTACTGG	0.323													26	94					0	0	0	0	G	53040725	C	G	53040725	3	3	13	1	0	0	0	0	1	0	0	0	3793	855	30	2	314	2	COX11	17	53040725	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	12351247	53040725	28154485	151	3035											
KCNJ2	3759	broad.mit.edu	37	chr17	68171901	68171901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagaattacttctgaagggGagtatatccctctggatcaa	12	11	9	9	0	3	2	1	1	2	1	4	4	4	4	2	3	1	1	2	3	6	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:68171901G>A	ENST00000243457.3	+	2	1104	c.721G>A	c.(721-723)Gag>Aag	p.E241K	KCNJ2_ENST00000535240.1_Missense_Mutation_p.E241K	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	241					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TTCTGAAGGGGAGTATATCCC	0.448													33	87					0	0	0	0	A	68171901	G	A	68171901	3	1	13	1	0	0	0	0	1	0	0	0	8104	1175	41	2	723	2	KCNJ2	17	68171901	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	15131176	68171901	13023309	152	3036											
EXOC7	23265	broad.mit.edu	37	chr17	74085376	74085376	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtggatgtaggcatcggtCtccacgtccagcatgtcatc	8	10	11	12	2	2	0	1	0	1	0	6	1	3	1	2	3	1	3	2	3	1	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:74085376C>T	ENST00000607838.1	-	9	1090	c.996G>A	c.(994-996)gaG>gaA	p.E332E	EXOC7_ENST00000411744.2_Silent_p.E301E|EXOC7_ENST00000332065.5_Silent_p.E278E|EXOC7_ENST00000335146.7_Silent_p.E360E|EXOC7_ENST00000405575.4_Silent_p.E332E|EXOC7_ENST00000589210.1_Silent_p.E309E|EXOC7_ENST00000467929.2_Silent_p.E268E	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	360					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AGGCATCGGTCTCCACGTCCA	0.637													18	45					0	0	0	0	T	74085376	C	T	74085376	2	4	13	1	0	0	0	0	0	0	0	1	5347	912	32	2		2	EXOC7	17	74085376	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	5913475	74085376	7109834	153	3037											
RPTOR	57521	broad.mit.edu	37	chr17	78681774	78681774	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgccccggcccacagtcaAcggggaggtctgggtcttca	6	7	15	13	2	4	0	2	0	2	0	4	1	4	1	3	6	2	0	3	6	1	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:78681774A>G	ENST00000306801.3	+	4	844	c.482A>G	c.(481-483)aAc>aGc	p.N161S	RPTOR_ENST00000544334.2_Missense_Mutation_p.N161S|RPTOR_ENST00000570891.1_Missense_Mutation_p.N161S|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	161					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCCACAGTCAACGGGGAGGTC	0.592													11	28					0	0	0	0	G	78681774	A	G	78681774	3	3	13	1	0	0	0	0	1	0	0	0	13750	43	2	5	496	5	RPTOR	17	78681774	Missense_Mutation	SNP	A	TCGA-BA-5558-01A-01D-1512-08	4596398	78681774	2513436	154	3038											
MYO5B	4645	broad.mit.edu	37	chr18	47563335	47563335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatagattggcaactgttCataaggattaatggcaacaa	15	11	8	7	0	1	1	1	0	0	1	2	2	2	2	1	3	2	3	1	3	6	5			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr18:47563335C>T	ENST00000285039.7	-	4	639	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	114	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGCAACTGTTCATAAGGATTA	0.468													17	40					0	0	0	0	T	47563335	C	T	47563335	3	4	13	1	0	0	0	0	1	0	0	0	10149	835	29	2	5354	2	MYO5B	18	47563335	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08		47563335	30513913	155	3039											
POLRMT	5442	broad.mit.edu	37	chr19	618526	618526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcatcatgtgggaggaGtccagcgagtggatgaagtt	10	9	17	5	1	1	2	1	2	0	0	2	6	2	5	1	3	2	2	1	3	1	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:618526G>T	ENST00000588649.2	-	17	3468	c.3384C>A	c.(3382-3384)gaC>gaA	p.D1128E		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1128	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGTGGGAGGAGTCCAGCGAGT	0.662													11	30					6.40141e-05	6.7186e-05	1	0	T	618526	G	T	618526	3	4	13	1	0	0	0	0	1	0	0	0	12310	1020	36	4	328	4	POLRMT	19	618526	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08		618526	58510457	156	3040											
MUC16	94025	broad.mit.edu	37	chr19	9056712	9056712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaacctggattctgggaagGaggttatcccagtggactcc	10	10	12	9	0	1	0	0	0	1	0	3	4	3	4	3	5	1	1	3	5	4	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:9056712G>A	ENST00000397910.4	-	3	30937	c.30734C>T	c.(30733-30735)tCc>tTc	p.S10245F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10247	Ser-rich.|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						TTCTGGGAAGGAGGTTATCCC	0.463													24	62					0	0	0	0	A	9056712	G	A	9056712	3	1	13	1	0	0	0	0	1	0	0	0	10043	1174	41	2	13117	2	MUC16	19	9056712	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	8438186	9056712	50072271	157	3041											
CCDC151	115948	broad.mit.edu	37	chr19	11545748	11545748	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggtttgcccgaagcctcCctgcccttgaccctggaaga	6	9	11	15	1	0	2	0	1	0	1	1	4	1	3	5	2	3	1	5	2	2	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:11545748C>T	ENST00000356392.4	-	1	177	c.90G>A	c.(88-90)agG>agA	p.R30R	CCDC151_ENST00000586836.1_Intron|CCDC151_ENST00000545100.1_Intron|CCDC151_ENST00000591179.1_Silent_p.R30R	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	30										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CCGAAGCCTCCCTGCCCTTGA	0.667											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	97					0	0	0	0	T	11545748	C	T	11545748	2	4	13	1	0	0	0	0	0	0	0	1	2811	622	22	4		4	CCDC151	19	11545748	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	2489036	11545748	47583235	158	3042											
SLC8A2	6543	broad.mit.edu	37	chr19	47935484	47935484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagagtccttgaggccaaCggtgcagccgaagtgggagg	10	5	17	9	2	0	2	0	1	0	1	1	5	1	3	3	4	3	1	3	4	2	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:47935484C>T	ENST00000236877.6	-	9	2724	c.2329G>A	c.(2329-2331)Gtt>Att	p.V777I	SLC8A2_ENST00000542837.1_Missense_Mutation_p.V533I|SLC8A2_ENST00000539381.1_Missense_Mutation_p.V240I	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	777					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTGAGGCCAACGGTGCAGCCG	0.607													14	89					0	0	0	0	T	47935484	C	T	47935484	3	4	13	1	0	0	0	0	1	0	0	0	14795	536	19	1	444	1	SLC8A2	19	47935484	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	36389736	47935484	11193499	159	3043											
CCDC114	93233	broad.mit.edu	37	chr19	48801464	48801464	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaaggcctgcactgtcagGagctccaccagccgcttctc	8	7	11	15	1	2	0	1	0	1	0	4	2	3	2	4	3	3	3	4	3	1	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:48801464G>T	ENST00000315396.7	-	11	1945	c.1263C>A	c.(1261-1263)ctC>ctA	p.L421L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	421										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCACTGTCAGGAGCTCCACCA	0.652													13	63					5.50884e-06	5.80796e-06	1	0	T	48801464	G	T	48801464	2	4	13	1	0	0	0	0	0	0	0	1	2776	1161	41	2		2	CCDC114	19	48801464	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	865980	48801464	10327519	160	3044											
HAS1	3036	broad.mit.edu	37	chr19	52216936	52216936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagttagcggccagcttcCgccggcccgaggtgccccag	5	6	14	16	5	0	0	0	0	0	0	1	1	1	0	6	3	3	3	6	3	2	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:52216936C>T	ENST00000540069.2	-	5	1538	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	HAS1_ENST00000601714.1_Missense_Mutation_p.R501Q|HAS1_ENST00000222115.1_Missense_Mutation_p.R494Q			Q92839	HAS1_HUMAN	hyaluronan synthase 1	494					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGCCAGCTTCCGCCGGCCCGA	0.687													5	4					0	0	0	0	T	52216936	C	T	52216936	3	4	13	1	0	0	0	0	1	0	0	0	7011	652	23	1	259	1	HAS1	19	52216936	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	3415472	52216936	6912047	161	3045											
PPP2R1A	5518	broad.mit.edu	37	chr19	52709301	52709301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgggaggcccagagtaCgtgcactgcctgctggtgag	6	8	17	10	1	0	2	0	1	0	1	0	3	0	3	2	4	4	3	2	4	1	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:52709301C>T	ENST00000322088.6	+	3	313	c.255C>T	c.(253-255)taC>taT	p.Y85Y	PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Intron	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	85	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GCCCAGAGTACGTGCACTGCC	0.612			Mis		clear cell ovarian carcinoma								26	118					0	0	0	0	T	52709301	C	T	52709301	2	4	13	1	0	0	0	0	0	0	0	1	12458	547	19	1		1	PPP2R1A	19	52709301	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	492365	52709301	6419682	162	3046											
ZNF160	90338	broad.mit.edu	37	chr19	53578367	53578367	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccctgtataagatcctctGagcagggtccaggcatttcc	8	11	10	12	0	1	2	0	1	1	1	5	2	5	2	4	2	1	3	4	2	2	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:53578367G>C	ENST00000429604.1	-	5	500	c.85C>G	c.(85-87)Cag>Gag	p.Q29E	ZNF160_ENST00000599056.1_Missense_Mutation_p.Q29E|ZNF160_ENST00000601421.1_5'UTR|ZNF160_ENST00000418871.1_Missense_Mutation_p.Q29E|ZNF160_ENST00000355147.5_Missense_Mutation_p.Q29E	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	29	KRAB.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AAGATCCTCTGAGCAGGGTCC	0.453													68	134					0	0	0	0	C	53578367	G	C	53578367	3	2	13	1	0	0	0	0	1	0	0	0	17834	1299	45	2	2383	2	ZNF160	19	53578367	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	869066	53578367	5550616	163	3047											
FCAR	2204	broad.mit.edu	37	chr19	55401040	55401040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccaccaagattacacgacGcagaacttgatccgcatggc	13	7	8	13	3	0	3	0	1	0	2	2	4	2	3	3	1	2	2	3	1	3	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:55401040G>A	ENST00000391723.3	+	4	565	c.565G>A	c.(565-567)Gca>Aca	p.A189T	FCAR_ENST00000345937.4_Silent_p.T129T|FCAR_ENST00000391726.3_Silent_p.T117T|FCAR_ENST00000359272.4_Silent_p.T213T|FCAR_ENST00000355524.3_Silent_p.T225T|FCAR_ENST00000353758.4_Silent_p.T116T|FCAR_ENST00000391725.3_Silent_p.T203T|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Silent_p.T191T	NM_133274.2	NP_579808.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		ATTACACGACGCAGAACTTGA	0.527													123	537					0	0	0	0	A	55401040	G	A	55401040	3	1	13	1	0	0	0	0	1	0	0	0	5818	1087	38	1	764	1	FCAR	19	55401040	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	1822673	55401040	3727943	164	3048											
TMEM150B	284417	broad.mit.edu	37	chr19	55824413	55824413	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctacgcagcgagcaggcgtgGaggacgatcactgccccagg	9	4	15	13	4	1	0	1	0	0	0	1	4	1	2	2	4	4	2	2	4	1	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:55824413G>A	ENST00000326652.4	-	8	698	c.516C>T	c.(514-516)ctC>ctT	p.L172L	TMEM150B_ENST00000438693.1_Silent_p.L172L			A6NC51	T150B_HUMAN	transmembrane protein 150B	172						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						AGCAGGCGTGGAGGACGATCA	0.687													5	15					0	0	0	0	A	55824413	G	A	55824413	2	1	13	1	0	0	0	0	0	0	0	1	16162	1161	41	2		2	TMEM150B	19	55824413	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08	423373	55824413	3304570	165	3049											
ZIM3	114026	broad.mit.edu	37	chr19	57646830	57646830	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttatgttgaatgagggttGagttctgcctgaaggatttc	8	17	12	4	0	1	4	0	4	1	0	2	5	1	5	1	2	1	3	1	2	3	6			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:57646830G>C	ENST00000269834.1	-	5	1260	c.875C>G	c.(874-876)tCa>tGa	p.S292*		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AATGAGGGTTGAGTTCTGCCT	0.378													118	195					0	0	0	0	C	57646830	G	C	57646830	4	2	13	1	0	0	0	0	0	1	0	0	17780	1294	45	2	547	2	ZIM3	19	57646830	Nonsense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	1822417	57646830	1482153	166	3050											
VN1R1	57191	broad.mit.edu	37	chr19	57966870	57966870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactgagagatatgagtatCactcatgatgaggacaaaag	17	8	11	5	0	2	5	2	4	0	1	2	8	2	6	0	1	1	1	0	1	5	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:57966870C>T	ENST00000321039.3	-	1	984	c.985G>A	c.(985-987)Gat>Aat	p.D329N	AC004076.9_ENST00000415705.3_5'UTR|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	329					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		ATATGAGTATCACTCATGATG	0.463													30	99					0	0	0	0	T	57966870	C	T	57966870	3	4	13	1	0	0	0	0	1	0	0	0	17274	826	29	2	80	2	VN1R1	19	57966870	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	320040	57966870	1162113	167	3051											
SIRPG	55423	broad.mit.edu	37	chr20	1629897	1629897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggccttctttttgattgtaGattaattcccggcctggtcc	5	17	9	10	1	1	2	0	1	1	1	3	2	3	2	4	3	0	1	4	3	2	7			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:1629897G>A	ENST00000381580.1	-	2	311	c.132C>T	c.(130-132)atC>atT	p.I44I	SIRPG_ENST00000303415.3_Silent_p.I77I|SIRPG_ENST00000216927.4_Silent_p.I77I|SIRPG_ENST00000344103.4_Silent_p.I77I|SIRPG_ENST00000381583.2_Silent_p.I77I			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	77	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TTTGATTGTAGATTAATTCCC	0.517													44	146					0	0	0	0	A	1629897	G	A	1629897	2	1	13	1	0	0	0	0	0	0	0	1	14424	932	33	2		2	SIRPG	20	1629897	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08		1629897	61395623	168	3052											
PAX1	5075	broad.mit.edu	37	chr20	21687574	21687574	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaccccagtcccgtgtcgcCcacgggcgccaagatgggca	7	5	12	17	4	0	1	0	0	0	1	2	1	1	1	5	2	1	1	5	2	2	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:21687574C>A	ENST00000398485.2	+	2	839	c.785C>A	c.(784-786)cCc>cAc	p.P262H	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.P238H	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	262					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCCGTGTCGCCCACGGGCGCC	0.697													3	71					0.115264	0.115761	1	0	A	21687574	C	A	21687574	3	1	13	1	0	0	0	0	1	0	0	0	11549	623	22	4	791	4	PAX1	20	21687574	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	20057677	21687574	41337946	169	3053											
EPB41L1	2036	broad.mit.edu	37	chr20	34806864	34806864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcccacagacggtggccacgGaaatccgttctctttctccg	7	9	10	15	4	2	1	0	0	2	1	5	2	3	2	4	3	0	1	4	3	1	2			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:34806864G>A	ENST00000338074.2	+	18	2496	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	EPB41L1_ENST00000373941.1_Missense_Mutation_p.E778K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E670K|EPB41L1_ENST00000373946.3_Missense_Mutation_p.E599K|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E677K|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E677K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	779	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGTGGCCACGGAAATCCGTTC	0.582													10	38					0	0	0	0	A	34806864	G	A	34806864	3	1	13	1	0	0	0	0	1	0	0	0	5190	1175	41	2	2401	2	EPB41L1	20	34806864	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	13119290	34806864	28218656	170	3054											
PTPRT	11122	broad.mit.edu	37	chr20	40979290	40979290	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaggagctccccgggactGagcgggtttcagcatcactg	8	7	14	12	2	2	1	2	1	0	0	3	4	3	3	2	3	3	3	2	3	0	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:40979290G>A	ENST00000373198.3	-	11	2078	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*	PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Q615*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	615	Fibronectin type-III 4.				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)				CCCCGGGACTGAGCGGGTTTC	0.527													30	139					0	0	0	0	A	40979290	G	A	40979290	4	1	13	1	0	0	0	0	0	1	0	0	12894	1299	45	2	2627	2	PTPRT	20	40979290	Nonsense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	6172426	40979290	22046230	171	3055											
STAU1	6780	broad.mit.edu	37	chr20	47734390	47734390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccatggggtacgtggcctGaagagatgttattctttaaa	10	13	12	6	1	1	2	0	1	1	1	2	3	2	2	2	3	1	2	2	3	5	5			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:47734390G>A	ENST00000371828.3	-	11	1695	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L	STAU1_ENST00000371802.1_Missense_Mutation_p.S403L|STAU1_ENST00000360426.4_Missense_Mutation_p.S397L|STAU1_ENST00000340954.7_Missense_Mutation_p.S397L|STAU1_ENST00000347458.5_Missense_Mutation_p.S397L|STAU1_ENST00000371792.1_Missense_Mutation_p.S395L|STAU1_ENST00000371856.2_Missense_Mutation_p.S478L	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	478						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TACGTGGCCTGAAGAGATGTT	0.537													24	93					0	0	0	0	A	47734390	G	A	47734390	3	1	13	1	0	0	0	0	1	0	0	0	15362	1294	45	2	316	2	STAU1	20	47734390	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08	6755100	47734390	15291130	172	3056											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007779	32007779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtcctgtggcttctactGagaaatatctggcaactcaa	10	12	9	10	0	3	1	1	1	2	1	4	2	4	1	1	3	2	2	1	3	5	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr21:32007779G>A	ENST00000330798.2	+	1	225	c.197G>A	c.(196-198)tGa>tAa	p.*66*		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	0						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGCTTCTACTGAGAAATATCT	0.468													49	117					0	0	0	0	A	32007779	G	A	32007779	2	1	13	1	0	0	0	0	0	0	0	1	8589	1304	45	2		2	KRTAP20-2	21	32007779	Silent	SNP	G	TCGA-BA-5558-01A-01D-1512-08		32007779	16122116	173	3057											
PI4KA	5297	broad.mit.edu	37	chr22	21115663	21115663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagcgatcaggatctgttGaacgcagtaccctaagaaga	14	7	12	8	2	2	3	1	1	1	2	2	6	2	5	1	2	3	3	1	2	5	3			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr22:21115663G>A	ENST00000255882.6	-	23	2806	c.2720C>T	c.(2719-2721)tCa>tTa	p.S907L	PI4KA_ENST00000572273.1_Missense_Mutation_p.S849L|PI4KA_ENST00000466162.1_5'UTR	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	849					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)			AGGATCTGTTGAACGCAGTAC	0.393													23	46					0	0	0	0	A	21115663	G	A	21115663	3	1	13	1	0	0	0	0	1	0	0	0	11945	1294	45	2	3720	2	PI4KA	22	21115663	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08		21115663	30188903	174	3058											
MED14	9282	broad.mit.edu	37	chrX	40522377	40522377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagcgctgaggtagtttacGaggtggaggcatgtttgttg	8	12	17	4	2	0	2	0	1	0	1	0	4	0	3	0	4	2	6	0	4	2	5			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chrX:40522377G>A	ENST00000324817.1	-	26	3602	c.3484C>T	c.(3484-3486)Cgt>Tgt	p.R1162C		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1162	Pro-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTAGTTTACGAGGTGGAGGC	0.453													10	10					0	0	0	0	A	40522377	G	A	40522377	3	1	13	1	0	0	0	0	1	0	0	0	9501	1058	37	1	904	1	MED14	23	40522377	Missense_Mutation	SNP	G	TCGA-BA-5558-01A-01D-1512-08		40522377	114748183	175	3059											
GDPD2	54857	broad.mit.edu	37	chrX	69649354	69649354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttatagaggcgacccttCtggggggccaaaccgctggc	7	9	13	12	2	2	1	0	0	2	1	2	2	2	1	3	5	1	1	3	5	3	4			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chrX:69649354C>T	ENST00000453994.2	+	11	1309	c.948C>T	c.(946-948)ttC>ttT	p.F316F	GDPD2_ENST00000536730.1_Silent_p.F237F|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Silent_p.F237F|GDPD2_ENST00000374382.3_Silent_p.F316F	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	316	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GGCGACCCTTCTGGGGGGCCA	0.522													12	16					0	0	0	0	T	69649354	C	T	69649354	2	4	13	1	0	0	0	0	0	0	0	1	6375	912	32	2		2	GDPD2	23	69649354	Silent	SNP	C	TCGA-BA-5558-01A-01D-1512-08	29126977	69649354	85621206	176	3060											
DRP2	1821	broad.mit.edu	37	chrX	100511136	100511136	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccagtacctgctgcggcactCcagccccatcacagaccggg	8	5	10	18	2	1	1	1	0	0	1	2	1	2	1	6	2	4	3	6	2	1	1			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chrX:100511136C>G	ENST00000395209.3	+	21	2803	c.2276C>G	c.(2275-2277)tCc>tGc	p.S759C	DRP2_ENST00000541709.1_Missense_Mutation_p.S681C|DRP2_ENST00000538510.1_Missense_Mutation_p.S759C|DRP2_ENST00000402866.1_Missense_Mutation_p.S759C	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	759					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CTGCGGCACTCCAGCCCCATC	0.572													26	58					0	0	0	0	G	100511136	C	G	100511136	3	3	13	1	0	0	0	0	1	0	0	0	4800	855	30	2	2350	2	DRP2	23	100511136	Missense_Mutation	SNP	C	TCGA-BA-5558-01A-01D-1512-08	30861782	100511136	54759424	177	3061											
CDC20	991	broad.mit.edu	37	chr1	43825460	43825460	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggaagccaagatccttcGgctcagtggaaaaccacaaa	16	5	10	10	1	1	2	1	0	0	2	3	4	2	4	3	3	2	1	3	3	5	1			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:43825460G>C	ENST00000372462.1	+	3	598	c.395G>C	c.(394-396)cGg>cCg	p.R132P	CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Missense_Mutation_p.R132P			Q12834	CDC20_HUMAN	cell division cycle 20	132					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|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	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAGATCCTTCGGCTCAGTGGA	0.502													102	164					0	0	0	0	C	43825460	G	C	43825460	3	2	14	1	0	0	0	0	1	0	0	0	3088	1116	39	3	405	3	CDC20	1	43825460	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08		43825460	205425161	1	3062											
PTPRF	5792	broad.mit.edu	37	chr1	44044587	44044587	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgcgaacctgtatgtGcgaggtaaggactcaggcag	9	7	14	11	2	1	0	1	0	0	0	1	3	1	1	3	3	3	3	3	3	3	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:44044587G>A	ENST00000359947.4	+	7	1015	c.675G>A	c.(673-675)gtG>gtA	p.V225V	PTPRF_ENST00000438120.1_Silent_p.V225V|PTPRF_ENST00000372413.3_Silent_p.V225V|PTPRF_ENST00000372414.3_Silent_p.V225V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	225					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCTGTATGTGCGAGGTAAGG	0.612													3	39					0	0	0	0	A	44044587	G	A	44044587	2	1	14	1	0	0	0	0	0	0	0	1	12883	1306	46	4		4	PTPRF	1	44044587	Silent	SNP	G	TCGA-BA-5559-01A-01D-1512-08	219127	44044587	205206034	2	3063											
LPPR4	9890	broad.mit.edu	37	chr1	99771805	99771805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctggcgctgtccccGgatgtaacaacagcatgcct	8	8	10	15	2	0	0	0	0	0	0	2	1	2	1	5	2	5	3	5	2	2	1			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:99771805G>A	ENST00000370185.3	+	7	2028	c.1531G>A	c.(1531-1533)Gga>Aga	p.G511R	LPPR4_ENST00000370184.1_Missense_Mutation_p.G353R|LPPR4_ENST00000457765.1_Missense_Mutation_p.G453R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		511							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CGCTGTCCCCGGATGTAACAA	0.552													17	384					0	0	0	0	A	99771805	G	A	99771805	3	1	14	1	0	0	0	0	1	0	0	0	8991	1117	39	1	1557	1	LPPR4	1	99771805	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	55727218	99771805	149478816	3	3064											
AMIGO1	57463	broad.mit.edu	37	chr1	110051444	110051444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcaggacagctaaccaCggctcggccagctctggcca	8	4	14	15	3	1	0	0	0	1	0	2	1	1	1	3	6	3	4	3	6	1	1	rs139908524		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:110051444C>T	ENST00000369864.4	-	2	440	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	AMIGO1_ENST00000369862.1_Missense_Mutation_p.V31M			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	31	LRRNT.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CAGCTAACCACGGCTCGGCCA	0.627													11	29					0	0	0	0	T	110051444	C	T	110051444	3	4	14	1	0	0	0	0	1	0	0	0	575	536	19	1	1394	1	AMIGO1	1	110051444	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	10279639	110051444	139199177	4	3065											
ARHGEF11	9826	broad.mit.edu	37	chr1	156950259	156950259	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtcgccctctttcacaccGgccttcatggctgcacctcc	4	10	8	19	3	3	0	2	0	1	0	5	0	4	0	5	3	1	2	5	3	0	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:156950259G>A	ENST00000368194.3	-	4	1282	c.243C>T	c.(241-243)gcC>gcT	p.A81A	ARHGEF11_ENST00000361409.2_Silent_p.A81A	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	81	PDZ.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.A81A(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTTCACACCGGCCTTCATGG	0.567													5	11					0	0	0	0	A	156950259	G	A	156950259	2	1	14	1	0	0	0	0	0	0	0	1	898	1103	39	1		1	ARHGEF11	1	156950259	Silent	SNP	G	TCGA-BA-5559-01A-01D-1512-08	46898815	156950259	92300362	5	3066											
ATP1A2	477	broad.mit.edu	37	chr1	160104995	160104995	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacatgacatcggagcagctCgatgagatcctcaagaacca	14	6	10	11	2	1	3	1	2	0	2	4	7	2	4	2	1	3	2	2	1	2	0			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:160104995C>T	ENST00000361216.3	+	15	2114	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.L675L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	675					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGGAGCAGCTCGATGAGATCC	0.577													34	59					0	0	0	0	T	160104995	C	T	160104995	2	4	14	1	0	0	0	0	0	0	0	1	1133	871	31	1		1	ATP1A2	1	160104995	Silent	SNP	C	TCGA-BA-5559-01A-01D-1512-08	3154736	160104995	89145626	6	3067											
PAPPA2	60676	broad.mit.edu	37	chr1	176525894	176525894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgctgggagatgatgacGcttatctcggcaatcaaaga	12	9	12	8	2	2	4	1	2	1	2	3	5	2	4	0	2	2	4	0	2	3	1			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:176525894G>A	ENST00000367662.3	+	2	1600	c.436G>A	c.(436-438)Gct>Act	p.A146T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A146T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	146					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGATGATGACGCTTATCTCGG	0.542													6	209					0	0	0	0	A	176525894	G	A	176525894	3	1	14	1	0	0	0	0	1	0	0	0	11504	1087	38	1	438	1	PAPPA2	1	176525894	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	16420899	176525894	72724727	7	3068											
CACNA1E	777	broad.mit.edu	37	chr1	181745355	181745355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtctgggcagaatatgaccGagcagcatggtgcgtaggcc	9	7	15	10	3	1	2	0	1	1	1	1	3	1	2	2	3	3	4	2	3	3	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:181745355G>A	ENST00000526775.1	+	37	5366	c.5201G>A	c.(5200-5202)cGa>cAa	p.R1734Q	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1360Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1704Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1685Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1734Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1753					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAATATGACCGAGCAGCATGG	0.612													6	168					0	0	0	0	A	181745355	G	A	181745355	3	1	14	1	0	0	0	0	1	0	0	0	2567	1058	37	1	5408	1	CACNA1E	1	181745355	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	5219461	181745355	67505266	8	3069											
CACNA1S	779	broad.mit.edu	37	chr1	201046135	201046135	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtcatacctccccccaaaGagctgcatgcccaggagggc	11	5	10	15	0	1	1	1	0	0	1	2	2	2	2	5	2	4	2	5	2	3	1			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:201046135G>C	ENST00000362061.3	-	12	1966	c.1740C>G	c.(1738-1740)ctC>ctG	p.L580L	CACNA1S_ENST00000367338.3_Silent_p.L580L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	580					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCCCCCAAAGAGCTGCATGC	0.572													16	145					0	0	0	0	C	201046135	G	C	201046135	2	2	14	1	0	0	0	0	0	0	0	1	2572	929	33	2		2	CACNA1S	1	201046135	Silent	SNP	G	TCGA-BA-5559-01A-01D-1512-08	19300780	201046135	48204486	9	3070											
CHI3L1	1116	broad.mit.edu	37	chr1	203150383	203150383	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccaggctccatgaaaatcGtaggtcatgatgctaatgaa	13	9	10	9	2	1	3	1	3	0	0	3	3	2	3	2	2	1	3	2	2	5	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:203150383G>A	ENST00000255409.3	-	7	743	c.618C>T	c.(616-618)taC>taT	p.Y206Y		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	206	Chitooligosaccharide.				chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CATGAAAATCGTAGGTCATGA	0.522													25	61					0	0	0	0	A	203150383	G	A	203150383	2	1	14	1	0	0	0	0	0	0	0	1	3369	1140	40	1		1	CHI3L1	1	203150383	Silent	SNP	G	TCGA-BA-5559-01A-01D-1512-08	2104248	203150383	46100238	10	3071											
GREM2	64388	broad.mit.edu	37	chr1	240656560	240656560	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcagcggctgcgtcttgcaCcagtcactcttgaggtactt	6	11	11	13	3	3	1	1	1	2	0	3	1	3	1	1	2	4	4	1	2	1	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:240656560C>G	ENST00000318160.4	-	2	482	c.216G>C	c.(214-216)tgG>tgC	p.W72C		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	72					BMP signaling pathway	extracellular space	cytokine activity	p.W72C(1)		endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GCGTCTTGCACCAGTCACTCT	0.632													12	44					0	0	0	0	G	240656560	C	G	240656560	3	3	14	1	0	0	0	0	1	0	0	0	6812	508	18	4	294	4	GREM2	1	240656560	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	37506177	240656560	8594061	11	3072											
RGS7	6000	broad.mit.edu	37	chr1	240966240	240966240	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagctcctgataggcactGgatcttataaaacgtgggta	13	10	11	7	1	1	2	0	1	1	1	2	3	2	3	1	3	2	3	1	3	6	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:240966240G>A	ENST00000366565.1	-	16	1704	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	RGS7_ENST00000331110.7_Silent_p.S415S|RGS7_ENST00000366562.4_Silent_p.S441S|RGS7_ENST00000348120.2_Silent_p.S388S|RGS7_ENST00000366564.1_Silent_p.S441S|RGS7_ENST00000401882.1_Silent_p.S388S|RGS7_ENST00000366563.1_Silent_p.S441S|RGS7_ENST00000407727.1_Silent_p.S441S|RGS7_ENST00000446183.2_Silent_p.S357S	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	441	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.S441S(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GATAGGCACTGGATCTTATAA	0.348													19	189					0	0	0	0	A	240966240	G	A	240966240	2	1	14	1	0	0	0	0	0	0	0	1	13393	1335	47	4		4	RGS7	1	240966240	Silent	SNP	G	TCGA-BA-5559-01A-01D-1512-08	309680	240966240	8284381	12	3073											
LRP1B	53353	broad.mit.edu	37	chr2	141806556	141806556	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcacagtgtcacttaccAtctttcaggatggtttctct	8	16	7	10	0	5	0	3	0	2	0	6	1	5	1	1	2	1	1	1	2	1	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr2:141806556A>G	ENST00000389484.3	-	11	2759	c.1789_splice	c.e11+1	p.D596_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	596					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCACTTACCATCTTTCAGGA	0.418										TSP Lung(27;0.18)			45	148					0	0	0	0	G	141806556	A	G	141806556	5	3	14	1	0	0	0	0	0	0	1	0	9019	231	8	5	12335	5	LRP1B	2	141806556	Splice_Site	SNP	A	TCGA-BA-5559-01A-01D-1512-08		141806556	101392817	13	3074											
MBD5	55777	broad.mit.edu	37	chr2	149226535	149226535	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccacctccccctcctccAccttcttgtgctcttcagaa	5	11	5	20	0	3	1	1	0	2	1	6	1	6	1	7	1	1	1	7	1	1	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr2:149226535A>G	ENST00000407073.1	+	9	2020	c.1023A>G	c.(1021-1023)ccA>ccG	p.P341P	MBD5_ENST00000404807.1_Silent_p.P341P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	341	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCCCTCCTCCACCTTCTTGTG	0.428													13	58					0	0	0	0	G	149226535	A	G	149226535	2	3	14	1	0	0	0	0	0	0	0	1	9416	146	6	5		5	MBD5	2	149226535	Silent	SNP	A	TCGA-BA-5559-01A-01D-1512-08	7419979	149226535	93972838	14	3075											
ITGB6	3694	broad.mit.edu	37	chr2	161029176	161029176	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtttgctgtccattccaaaAtgagaatcagcatcactcac	13	11	6	11	0	3	1	3	1	0	1	5	2	5	1	2	0	2	3	2	0	3	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr2:161029176A>G	ENST00000283249.2	-	6	1062	c.825T>C	c.(823-825)caT>caC	p.H275H	ITGB6_ENST00000409872.1_Silent_p.H275H|ITGB6_ENST00000409967.2_Silent_p.H275H|ITGB6_ENST00000428609.2_Silent_p.H233H|ITGB6_ENST00000485635.1_5'UTR			P18564	ITB6_HUMAN	integrin, beta 6	275	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CCATTCCAAAATGAGAATCAG	0.448													10	213					0	0	0	0	G	161029176	A	G	161029176	2	3	14	1	0	0	0	0	0	0	0	1	7952	98	4	5		5	ITGB6	2	161029176	Silent	SNP	A	TCGA-BA-5559-01A-01D-1512-08	11802641	161029176	82170197	15	3076											
COL6A3	1293	broad.mit.edu	37	chr2	238269816	238269816	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccgtcttctccaggaataCcctgaaacaaagtaatcggg	13	8	9	11	2	2	1	0	1	2	0	4	2	2	2	3	2	3	1	3	2	5	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr2:238269816C>A	ENST00000295550.4	-	16	6610	c.6156_splice	c.e16-1	p.G2053_splice	COL6A3_ENST00000472056.1_Splice_Site_p.G1446_splice|COL6A3_ENST00000409809.1_Splice_Site_p.G1847_splice|COL6A3_ENST00000353578.4_Splice_Site_p.G1847_splice|COL6A3_ENST00000347401.3_Splice_Site_p.G1852_splice|COL6A3_ENST00000346358.4_Splice_Site_p.G1853_splice	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2053	Collagen-like 1.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCCAGGAATACCCTGAAACAA	0.478													4	72					2.56e-06	2.98296e-06	1	0	A	238269816	C	A	238269816	5	1	14	1	0	0	0	0	0	0	1	0	3731	521	18	4	3491	4	COL6A3	2	238269816	Splice_Site	SNP	C	TCGA-BA-5559-01A-01D-1512-08	77240640	238269816	4929557	16	3077											
KLF15	28999	broad.mit.edu	37	chr3	126070938	126070938	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaatgcgcacaaacttGgagggcaggttcaagttgga	11	7	16	7	1	1	0	1	0	0	0	1	2	1	2	0	6	2	5	0	6	3	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr3:126070938G>C	ENST00000296233.3	-	2	1058	c.828C>G	c.(826-828)tcC>tcG	p.S276S		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	276						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GCACAAACTTGGAGGGCAGGT	0.627													2	9					0	0	0	0	C	126070938	G	C	126070938	2	2	14	1	0	0	0	0	0	0	0	1	8395	1335	47	4		4	KLF15	3	126070938	Silent	SNP	G	TCGA-BA-5559-01A-01D-1512-08		126070938	71951492	17	3078											
DNAJC13	23317	broad.mit.edu	37	chr3	132186135	132186135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgatgcactggagggataGgatgggcattgctcaaaaag	13	9	14	5	0	1	1	1	1	0	0	1	4	1	4	0	4	2	3	0	4	3	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr3:132186135G>T	ENST00000260818.6	+	20	2434	c.2186G>T	c.(2185-2187)aGg>aTg	p.R729M	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	729							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGGAGGGATAGGATGGGCATT	0.398													12	154					6.40141e-05	7.33153e-05	1	0	T	132186135	G	T	132186135	3	4	14	1	0	0	0	0	1	0	0	0	4668	1000	35	4	2260	4	DNAJC13	3	132186135	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	6115197	132186135	65836295	18	3079											
FXR1	8087	broad.mit.edu	37	chr3	180688116	180688116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatggaatgactgaatctGatacagcttcagttaatgaa	14	12	10	5	0	2	4	1	4	1	0	2	6	2	6	0	2	2	2	0	2	5	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr3:180688116G>A	ENST00000357559.4	+	15	1957	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	FXR1_ENST00000491062.1_Missense_Mutation_p.D476N|FXR1_ENST00000305586.7_Missense_Mutation_p.D440N|FXR1_ENST00000468861.1_Missense_Mutation_p.D440N|FXR1_ENST00000445140.2_Missense_Mutation_p.D525N|FXR1_ENST00000480918.1_Missense_Mutation_p.D512N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	525					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GACTGAATCTGATACAGCTTC	0.353													12	206					0	0	0	0	A	180688116	G	A	180688116	3	1	14	1	0	0	0	0	1	0	0	0	6163	1290	45	2	1631	2	FXR1	3	180688116	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	48501981	180688116	17334314	19	3080											
LYAR	55646	broad.mit.edu	37	chr4	4281210	4281210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaaagatattccacacctgGtccagaatggattcattatg	14	11	8	8	0	1	2	1	0	0	2	3	4	3	3	3	2	0	0	3	2	5	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr4:4281210G>C	ENST00000343470.4	-	6	633	c.393C>G	c.(391-393)gaC>gaG	p.D131E	LYAR_ENST00000452476.1_Missense_Mutation_p.D131E	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	131						nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCACACCTGGTCCAGAATGG	0.338													39	63					0	0	0	0	C	4281210	G	C	4281210	3	2	14	1	0	0	0	0	1	0	0	0	9168	1252	44	4	766	4	LYAR	4	4281210	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08		4281210	186873066	20	3081											
GBA3	57733	broad.mit.edu	37	chr4	22749784	22749785	+	RNA	DEL	TA	TA	-																															gtgggcaagacaggcatatgTatatatatatatatatatat																								rs73803318		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr4:22749784_22749785delTA	ENST00000508166.1	+	0	1185				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						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						CAGGCatatgtatatatatata	0.342													2	4	---	---	---	---					-	22749785	TA	-	22749784	6	5	14	0	1	1	0	1	0	0	0	0	6317	1653	57	0		0	GBA3	4	22749784	RNA	DEL	TA	TCGA-BA-5559-01A-01D-1512-08	18468574	22749784	168404492	21	3082											
CCKAR	886	broad.mit.edu	37	chr4	26491091	26491091	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtacaagagaatctgcAccgctggctgccactctgca	11	7	11	12	1	2	1	0	0	2	1	2	3	2	2	2	2	4	5	2	2	3	1			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr4:26491091A>G	ENST00000295589.3	-	2	322	c.128T>C	c.(127-129)gTg>gCg	p.V43A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	43					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GAGAATCTGCACCGCTGGCTG	0.552													6	58					0	0	0	0	G	26491091	A	G	26491091	3	3	14	1	0	0	0	0	1	0	0	0	2907	159	6	5	1174	5	CCKAR	4	26491091	Missense_Mutation	SNP	A	TCGA-BA-5559-01A-01D-1512-08	3741307	26491091	164663185	22	3083											
UBA6	55236	broad.mit.edu	37	chr4	68490887	68490887	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctttttcaaatgaaagcActgccatctgaaggtcacct	12	12	6	11	0	4	2	2	2	2	0	4	2	4	2	2	1	2	1	2	1	3	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr4:68490887A>G	ENST00000322244.4	-	29	2596	c.2537T>C	c.(2536-2538)gTg>gCg	p.V846A		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	846					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAATGAAAGCACTGCCATCTG	0.368													4	150					0	0	0	0	G	68490887	A	G	68490887	3	3	14	1	0	0	0	0	1	0	0	0	16928	159	6	5	641	5	UBA6	4	68490887	Missense_Mutation	SNP	A	TCGA-BA-5559-01A-01D-1512-08	41999796	68490887	122663389	23	3084											
DNAH5	1767	broad.mit.edu	37	chr5	13701532	13701532	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagaaacccagtgtactaGaaatccaagaagcctgcaat	17	6	7	11	0	0	3	0	0	0	3	1	3	1	3	4	0	4	2	4	0	7	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:13701532G>C	ENST00000265104.4	-	77	13456	c.13352C>G	c.(13351-13353)tCt>tGt	p.S4451C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4451				S -> F (in Ref. 5; BAB15543).	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGTGTACTAGAAATCCAAGA	0.373									Kartagener syndrome				5	143					0	0	0	0	C	13701532	G	C	13701532	3	2	14	1	0	0	0	0	1	0	0	0	4641	942	33	2	534	2	DNAH5	5	13701532	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08		13701532	167213728	24	3085											
PARP8	79668	broad.mit.edu	37	chr5	50091099	50091099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattatatggactgaaaaatCacaaattgctcagcaagtcc	17	10	6	8	0	2	1	2	1	0	0	3	2	3	2	1	1	2	2	1	1	7	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:50091099C>T	ENST00000281631.5	+	12	1434	c.1276C>T	c.(1276-1278)Cac>Tac	p.H426Y	PARP8_ENST00000503750.2_Missense_Mutation_p.H426Y|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.H426Y|PARP8_ENST00000505554.1_Missense_Mutation_p.H405Y|PARP8_ENST00000514342.2_Missense_Mutation_p.H179Y|PARP8_ENST00000505697.2_Missense_Mutation_p.H426Y	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	426						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACTGAAAAATCACAAATTGCT	0.448													24	177					0	0	0	0	T	50091099	C	T	50091099	3	4	14	1	0	0	0	0	1	0	0	0	11536	826	29	2	1322	2	PARP8	5	50091099	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	36389567	50091099	130824161	25	3086											
FAM169A	26049	broad.mit.edu	37	chr5	74091962	74091962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctctctgttcaggttcttCttccaggaattcttctgagc	5	16	7	13	0	6	1	1	1	5	0	8	2	7	2	2	2	1	2	2	2	1	6			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:74091962C>T	ENST00000389156.4	-	11	1243	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.E325K	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	385	Asp/Glu-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TCAGGTTCTTCTTCCAGGAAT	0.423													13	207					0	0	0	0	T	74091962	C	T	74091962	3	4	14	1	0	0	0	0	1	0	0	0	5528	922	32	2	871	2	FAM169A	5	74091962	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	24000863	74091962	106823298	26	3087											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712481	140712481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcgcactttgtgggcgtgGacggggttcgggctttcctg	2	13	17	9	4	0	0	0	0	0	0	3	1	1	1	1	5	0	4	1	5	0	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:140712481G>T	ENST00000517417.1	+	1	2230	c.2230G>T	c.(2230-2232)Gac>Tac	p.D744Y	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D744Y	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGCGTGGACGGGGTTCG	0.642													4	109					0.150653	0.160219	1	0	T	140712481	G	T	140712481	3	4	14	1	0	0	0	0	1	0	0	0	11621	1174	41	2	2232	2	PCDHGA1	5	140712481	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	66620519	140712481	40202779	27	3088											
DIAPH1	1729	broad.mit.edu	37	chr5	140960400	140960400	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcaggatccatggctctGaccagcagtaggattccttc	10	9	10	12	0	1	1	0	1	1	0	4	3	3	3	3	3	2	4	3	3	1	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:140960400G>C	ENST00000253811.6	-	8	875	c.735C>G	c.(733-735)gtC>gtG	p.V245V	DIAPH1_ENST00000398557.4_Silent_p.V245V|DIAPH1_ENST00000398566.3_Silent_p.V236V|DIAPH1_ENST00000389054.3_Silent_p.V245V|DIAPH1_ENST00000389057.5_Silent_p.V236V|DIAPH1_ENST00000398562.2_Silent_p.V236V|DIAPH1_ENST00000520569.1_Silent_p.V191V|DIAPH1_ENST00000518047.1_Silent_p.V236V			O60610	DIAP1_HUMAN	diaphanous-related formin 1	245	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGGCTCTGACCAGCAGTA	0.463													8	116					0	0	0	0	C	140960400	G	C	140960400	2	2	14	1	0	0	0	0	0	0	0	1	4555	1277	45	2		2	DIAPH1	5	140960400	Silent	SNP	G	TCGA-BA-5559-01A-01D-1512-08	247919	140960400	39954860	28	3089											
PCDH12	51294	broad.mit.edu	37	chr5	141336689	141336689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgaactctcagcaaacGcagggctattgtcattggag	11	9	11	10	1	2	1	2	1	1	0	3	2	2	2	1	2	3	3	1	2	3	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:141336689G>A	ENST00000231484.3	-	1	1938	c.728C>T	c.(727-729)gCg>gTg	p.A243V		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	243	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding	p.A243V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCAAACGCAGGGCTATT	0.512													24	93					0	0	0	0	A	141336689	G	A	141336689	3	1	14	1	0	0	0	0	1	0	0	0	11581	1087	38	1	2842	1	PCDH12	5	141336689	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	376289	141336689	39578571	29	3090											
TTC1	7265	broad.mit.edu	37	chr5	159476610	159476610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctagatgaagccctggaaGactataaatctatattagaa	17	10	8	6	0	1	4	0	1	1	3	1	5	1	5	1	1	2	1	1	1	10	6			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:159476610G>A	ENST00000231238.5	+	6	741	c.631G>A	c.(631-633)Gac>Aac	p.D211N	TTC1_ENST00000520274.1_3'UTR|TTC1_ENST00000522793.1_Missense_Mutation_p.D211N	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	211					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		AGCCCTGGAAGACTATAAATC	0.333													5	52					0	0	0	0	A	159476610	G	A	159476610	3	1	14	1	0	0	0	0	1	0	0	0	16774	942	33	2	649	2	TTC1	5	159476610	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	18139921	159476610	21438650	30	3091											
ATP10B	23120	broad.mit.edu	37	chr5	160042962	160042962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatctccggaagtcctcttCgcttacaacctatgggatgg	8	11	9	13	2	2	0	0	0	2	0	5	2	3	2	4	3	2	1	4	3	4	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:160042962C>T	ENST00000327245.5	-	17	3382	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	846					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGTCCTCTTCGCTTACAACC	0.527													17	55					0	0	0	0	T	160042962	C	T	160042962	3	4	14	1	0	0	0	0	1	0	0	0	1121	893	31	1	1889	1	ATP10B	5	160042962	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	566352	160042962	20872298	31	3092											
HLA-B	3106	broad.mit.edu	37	chr6	31323191	31323191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccacagctgcccacttCtggaaggttctatctcctgc	8	10	7	16	0	3	0	0	0	3	0	4	1	3	1	4	2	3	2	4	2	2	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:31323191C>A	ENST00000412585.2	-	4	826	c.798G>T	c.(796-798)caG>caT	p.Q266H		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTGCCCACTTCTGGAAGGTTC	0.582									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				4	83					0.150653	0.160219	1	0	A	31323191	C	A	31323191	3	1	14	1	0	0	0	0	1	0	0	0	7246	912	32	2	306	2	HLA-B	6	31323191	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08		31323191	139791876	32	3093											
ABCC10	89845	broad.mit.edu	37	chr6	43400422	43400422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcacccttgctggcccGtggggcctgtggagagctcc	3	8	16	14	1	0	1	0	0	0	1	1	2	1	1	4	5	2	4	4	5	0	1			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:43400422G>A	ENST00000244533.3	+	1	934	c.575G>A	c.(574-576)cGt>cAt	p.R192H	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.R235H	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	235						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TTGCTGGCCCGTGGGGCCTGT	0.637													11	66					0	0	0	0	A	43400422	G	A	43400422	3	1	14	1	0	0	0	0	1	0	0	0	50	1145	40	1	577	1	ABCC10	6	43400422	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	12077231	43400422	127714645	33	3094											
RIMS1	22999	broad.mit.edu	37	chr6	73023290	73023290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtcagtgatgtttccGccatttcccgaaccagcagt	8	12	10	11	2	1	2	1	2	0	0	3	3	3	2	4	0	2	2	4	0	1	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:73023290G>A	ENST00000264839.7	+	24	3592	c.3592G>A	c.(3592-3594)Gcc>Acc	p.A1198T	RIMS1_ENST00000517960.1_Missense_Mutation_p.A1141T|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.A669T|RIMS1_ENST00000348717.5_Missense_Mutation_p.A1141T|RIMS1_ENST00000538414.1_Missense_Mutation_p.A155T|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000521978.1_Missense_Mutation_p.A1349T|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.A1172T			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1349					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)				TGATGTTTCCGCCATTTCCCG	0.448													11	36					0	0	0	0	A	73023290	G	A	73023290	3	1	14	1	0	0	0	0	1	0	0	0	13452	1087	38	1	4318	1	RIMS1	6	73023290	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	29622868	73023290	98091777	34	3095											
SYNE1	23345	broad.mit.edu	37	chr6	152451872	152451872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctgctatgtggactgctGacagagggtccaggctgtga	8	10	14	9	0	0	3	0	2	0	1	1	4	1	4	2	3	3	3	2	3	2	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:152451872G>A	ENST00000367255.5	-	145	26737	c.26136C>T	c.(26134-26136)gtC>gtT	p.V8712V	SYNE1_ENST00000265368.4_Silent_p.V8712V|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.V3236V|SYNE1_ENST00000423061.1_Silent_p.V8664V|SYNE1_ENST00000448038.1_Silent_p.V8664V|SYNE1_ENST00000539504.1_Silent_p.V867V|SYNE1_ENST00000341594.5_Silent_p.V8324V|SYNE1_ENST00000354674.4_Silent_p.V890V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8712	Ser-rich.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGGACTGCTGACAGAGGGTC	0.468										HNSCC(10;0.0054)			8	34					0	0	0	0	A	152451872	G	A	152451872	2	1	14	1	0	0	0	0	0	0	0	1	15536	1277	45	2		2	SYNE1	6	152451872	Silent	SNP	G	TCGA-BA-5559-01A-01D-1512-08	79428582	152451872	18663195	35	3096											
SYNE1	23345	broad.mit.edu	37	chr6	152728244	152728244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagttgtttgaccatccctCaatctcatctctagttgaca	9	14	6	12	0	3	2	2	2	2	0	6	2	4	2	2	0	0	4	2	0	2	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:152728244C>G	ENST00000367255.5	-	45	7229	c.6628G>C	c.(6628-6630)Gag>Cag	p.E2210Q	SYNE1_ENST00000265368.4_Missense_Mutation_p.E2210Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2217Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2217Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2247Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2210					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACCATCCCTCAATCTCATCT	0.428										HNSCC(10;0.0054)			8	127					0	0	0	0	G	152728244	C	G	152728244	3	3	14	1	0	0	0	0	1	0	0	0	15536	835	29	2	20246	2	SYNE1	6	152728244	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	276372	152728244	18386823	36	3097											
SYNE1	23345	broad.mit.edu	37	chr6	152746543	152746543	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatgatctgtggtaaatctCtccatctctcatccaactgc	10	14	5	12	0	4	1	1	1	3	0	8	1	6	1	2	1	2	1	2	1	4	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:152746543C>G	ENST00000367255.5	-	39	5841	c.5240G>C	c.(5239-5241)aGa>aCa	p.R1747T	SYNE1_ENST00000265368.4_Missense_Mutation_p.R1747T|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1754T|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1754T|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1784T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1747					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGTAAATCTCTCCATCTCTC	0.318										HNSCC(10;0.0054)			5	163					0	0	0	0	G	152746543	C	G	152746543	3	3	14	1	0	0	0	0	1	0	0	0	15536	913	32	2	21658	2	SYNE1	6	152746543	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	18299	152746543	18368524	37	3098											
C6orf118	168090	broad.mit.edu	37	chr6	165715113	165715113	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctcccagtgaagtcattcTtcaggagatcttgcttggcg	7	13	11	10	1	4	2	2	1	2	1	5	3	5	2	1	2	2	2	1	2	1	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:165715113T>C	ENST00000543069.1	-	2	967	c.386A>G	c.(385-387)aAg>aGg	p.K129R	C6orf118_ENST00000230301.8_Missense_Mutation_p.K233R			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	233										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GAAGTCATTCTTCAGGAGATC	0.607													3	101					0	0	0	0	C	165715113	T	C	165715113	3	2	14	1	0	0	0	0	1	0	0	0	2344	1609	56	5	743	5	C6orf118	6	165715113	Missense_Mutation	SNP	T	TCGA-BA-5559-01A-01D-1512-08	12968570	165715113	5399954	38	3099											
ASZ1	136991	broad.mit.edu	37	chr7	117007450	117007450	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaccttttcactcaaatCttcaacattattaaccaatt	14	14	2	11	0	4	1	3	0	1	1	4	1	4	1	2	0	2	1	2	0	5	6			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr7:117007450C>A	ENST00000284629.2	-	12	1293	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	411					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCACTCAAATCTTCAACATTA	0.303													4	46					0.00116845	0.00130476	1	0	A	117007450	C	A	117007450	3	1	14	1	0	0	0	0	1	0	0	0	1073	913	32	2	204	2	ASZ1	7	117007450	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08		117007450	42131213	39	3100											
RIMS2	9699	broad.mit.edu	37	chr8	104897724	104897724	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagggactccaacaggagAagtcataggcattccaaaga	16	7	10	8	0	1	2	1	0	0	2	3	4	3	3	2	3	1	1	2	3	6	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr8:104897724A>G	ENST00000507740.1	+	2	557	c.321A>G	c.(319-321)agA>agG	p.R107R	RIMS2_ENST00000406091.3_Silent_p.R299R|RIMS2_ENST00000436393.2_Silent_p.R77R|RIMS2_ENST00000262231.10_Silent_p.R107R|RIMS2_ENST00000522174.1_3'UTR	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	330	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAACAGGAGAAGTCATAGGC	0.413										HNSCC(12;0.0054)			4	151					0	0	0	0	G	104897724	A	G	104897724	2	3	14	1	0	0	0	0	0	0	0	1	13453	243	9	5		5	RIMS2	8	104897724	Silent	SNP	A	TCGA-BA-5559-01A-01D-1512-08		104897724	41466298	40	3101											
ASAP1	50807	broad.mit.edu	37	chr8	131127917	131127917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcatctatctcctcctgtCgaagattccactcatattct	8	16	3	14	1	5	1	2	0	4	1	10	2	7	1	3	0	0	0	3	0	3	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr8:131127917C>T	ENST00000357668.1	-	22	2156	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q	ASAP1_ENST00000518721.1_Missense_Mutation_p.R710Q			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	710					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTCCTCCTGTCGAAGATTCCA	0.413													32	478					0	0	0	0	T	131127917	C	T	131127917	3	4	14	1	0	0	0	0	1	0	0	0	1014	884	31	1	1292	1	ASAP1	8	131127917	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	26230193	131127917	15236105	41	3102											
TAF1L	138474	broad.mit.edu	37	chr9	32635464	32635464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgccgaaaaggataccCgctaaagtaaatgggccacc	14	7	10	10	2	0	0	0	0	0	0	0	2	0	1	4	2	2	3	4	2	7	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr9:32635464C>T	ENST00000242310.4	-	1	203	c.114G>A	c.(112-114)gcG>gcA	p.A38A	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	38					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAAGGATACCCGCTAAAGTAA	0.567													7	153					0	0	0	0	T	32635464	C	T	32635464	2	4	14	1	0	0	0	0	0	0	0	1	15614	639	23	1		1	TAF1L	9	32635464	Silent	SNP	C	TCGA-BA-5559-01A-01D-1512-08		32635464	108577967	42	3103											
OR1L4	254973	broad.mit.edu	37	chr9	125486377	125486377	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttcctcatcatgtacCtactcactgcggtggggaat	8	12	8	13	1	4	0	3	0	1	0	5	1	5	1	3	3	3	1	3	3	3	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr9:125486377C>A	ENST00000259466.1	+	1	109	c.109C>A	c.(109-111)Cta>Ata	p.L37I		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CATCATGTACCTACTCACTGC	0.498													15	246					2.61681e-11	3.13083e-11	1	0	A	125486377	C	A	125486377	3	1	14	1	0	0	0	0	1	0	0	0	11036	680	24	4	111	4	OR1L4	9	125486377	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	92850913	125486377	15727054	43	3104											
SLC39A12	221074	broad.mit.edu	37	chr10	18270411	18270411	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgccacctaccactctggaGagtaagttctggatcttcct	8	12	8	13	0	3	1	0	0	3	1	4	3	4	2	4	2	2	2	4	2	2	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr10:18270411G>C	ENST00000377369.2	+	6	1368	c.1096_splice	c.e6+1	p.E365_splice	SLC39A12_ENST00000539911.1_Splice_Site_p.E231_splice|SLC39A12_ENST00000377371.3_Splice_Site_p.E365_splice|SLC39A12_ENST00000377374.4_Splice_Site_p.E365_splice	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	365					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.E365D(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCACTCTGGAGAGTAAGTTCT	0.443													10	39					0	0	0	0	C	18270411	G	C	18270411	5	2	14	1	0	0	0	0	0	0	1	0	14703	956	33	2	1113	2	SLC39A12	10	18270411	Splice_Site	SNP	G	TCGA-BA-5559-01A-01D-1512-08		18270411	117264336	44	3105											
TET1	80312	broad.mit.edu	37	chr10	70405419	70405419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgggcaaactactaccctttCcaactcacatatcaactcag	13	10	4	14	0	3	0	3	0	0	0	4	0	4	0	2	1	5	1	2	1	6	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr10:70405419C>G	ENST00000373644.4	+	4	3142	c.2933C>G	c.(2932-2934)tCc>tGc	p.S978C		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	978					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.S978C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACTACCCTTTCCAACTCACAT	0.363													17	72					0	0	0	0	G	70405419	C	G	70405419	3	3	14	1	0	0	0	0	1	0	0	0	15863	855	30	2	2943	2	TET1	10	70405419	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	52135008	70405419	65129328	45	3106											
PTEN	5728	broad.mit.edu	37	chr10	89692944	89692944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcatatttattacatcgggGcaaatttttaaaggcacaag	14	13	8	6	1	0	0	0	0	0	0	1	0	0	0	0	3	2	3	0	3	7	7			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr10:89692944G>A	ENST00000371953.3	+	5	1785	c.428G>A	c.(427-429)gGc>gAc	p.G143D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	143	Phosphatase tensin-type.				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 cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|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|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain 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.?(5)|p.R55fs*1(5)|p.G143fs*4(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(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)		TTACATCGGGGCAAATTTTTA	0.388		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)			4	146					0	0	0	0	A	89692944	G	A	89692944	3	1	14	1	0	0	0	0	1	0	0	0	12817	1203	42	4	446	4	PTEN	10	89692944	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	19287525	89692944	45841803	46	3107											
PLCE1	51196	broad.mit.edu	37	chr10	95790919	95790919	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtctcagacatcaatatttCaaaagcacatactgtcagac	15	10	6	10	0	4	2	4	0	1	2	5	2	4	2	0	1	2	1	0	1	5	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr10:95790919C>G	ENST00000260766.3	+	2	750	c.116C>G	c.(115-117)tCa>tGa	p.S39*	PLCE1_ENST00000371380.2_Nonsense_Mutation_p.S39*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	39					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCAATATTTCAAAAGCACAT	0.423													17	96					0	0	0	0	G	95790919	C	G	95790919	4	3	14	1	0	0	0	0	0	1	0	0	12106	838	29	2	118	2	PLCE1	10	95790919	Nonsense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	6097975	95790919	39743828	47	3108											
SORCS3	22986	broad.mit.edu	37	chr10	107012588	107012588	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtttcctggtctccccaCttcagcagagcttttcattc	5	15	7	14	1	3	1	2	0	1	1	6	1	4	1	3	1	2	3	3	1	0	5			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr10:107012588C>A	ENST00000369701.3	+	23	3388	c.3161C>A	c.(3160-3162)aCt>aAt	p.T1054N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1054						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTCTCCCCACTTCAGCAGAG	0.517													30	69					2.49675e-24	3.12677e-24	1	0	A	107012588	C	A	107012588	3	1	14	1	0	0	0	0	1	0	0	0	15020	565	20	4	3251	4	SORCS3	10	107012588	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	11221669	107012588	28522159	48	3109											
ATHL1	80162	broad.mit.edu	37	chr11	294335	294335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccagagtgagcgtctccgGcatcttctaccaggggaaca	9	8	11	13	2	3	2	0	1	3	1	5	3	4	3	3	3	3	1	3	3	2	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:294335G>A	ENST00000409548.2	+	13	1992	c.1877G>A	c.(1876-1878)gGc>gAc	p.G626D	ATHL1_ENST00000409479.1_Missense_Mutation_p.G653D|ATHL1_ENST00000409655.1_Missense_Mutation_p.G378D	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	626					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGCGTCTCCGGCATCTTCTAC	0.612													4	209					0	0	0	0	A	294335	G	A	294335	3	1	14	1	0	0	0	0	1	0	0	0	1108	1203	42	4	1923	4	ATHL1	11	294335	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08		294335	134712181	49	3110											
MUC5B	727897	broad.mit.edu	37	chr11	1275954	1275954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaaattccggtgagcagcGgtttcagcaagaacggcgtg	11	7	13	10	4	1	2	1	1	0	1	2	2	2	2	2	3	4	3	2	3	3	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:1275954G>A	ENST00000447027.1	+	35	15575	c.15517G>A	c.(15517-15519)Ggt>Agt	p.G5173S	MUC5B_ENST00000529681.1_Missense_Mutation_p.G5170S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5170	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTGAGCAGCGGTTTCAGCAA	0.607													11	31					0	0	0	0	A	1275954	G	A	1275954	3	1	14	1	0	0	0	0	1	0	0	0	10049	1116	39	1	15655	1	MUC5B	11	1275954	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	981619	1275954	133730562	50	3111											
CARS	833	broad.mit.edu	37	chr11	3061081	3061081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaccttgtcatcaatatccGtaatgttcatgcaataaaag	14	14	5	8	1	3	0	3	0	0	0	4	0	4	0	2	0	2	3	2	0	7	6			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:3061081G>A	ENST00000397114.3	-	5	633	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CARS_ENST00000278224.9_Missense_Mutation_p.T96M|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000401769.3_Missense_Mutation_p.T109M|CARS_ENST00000397111.5_Missense_Mutation_p.T96M|CARS_ENST00000380525.4_Missense_Mutation_p.T179M			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	96					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ATCAATATCCGTAATGTTCAT	0.294			T	ALK	ALCL								4	42					0	0	0	0	A	3061081	G	A	3061081	3	1	14	1	0	0	0	0	1	0	0	0	2682	1145	40	1	2043	1	CARS	11	3061081	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	1785127	3061081	131945435	51	3112											
OR51F2	119694	broad.mit.edu	37	chr11	4843392	4843392	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacctgcacatcccacatCagtgctgtttccatcttcta	10	12	4	15	0	3	0	1	0	2	0	5	0	5	0	3	0	3	3	3	0	2	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:4843392C>A	ENST00000322110.5	+	1	842	c.777C>A	c.(775-777)atC>atA	p.I259I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATCCCACATCAGTGCTGTTT	0.493													22	72					7.45023e-12	8.99397e-12	1	0	A	4843392	C	A	4843392	2	1	14	1	0	0	0	0	0	0	0	1	11168	816	29	2		2	OR51F2	11	4843392	Silent	SNP	C	TCGA-BA-5559-01A-01D-1512-08	1782311	4843392	130163124	52	3113											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955550	18955550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcactgctgttaagagcgGacaggaaaatagaaactaga	16	7	12	6	1	0	3	0	0	0	3	0	5	0	5	0	3	3	3	0	3	6	3	rs150108666		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:18955550G>T	ENST00000302797.3	-	1	1006	c.782C>A	c.(781-783)tCc>tAc	p.S261Y		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	261					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTTAAGAGCGGACAGGAAAAT	0.463													33	97					1.61788e-16	1.98895e-16	1	0	T	18955550	G	T	18955550	3	4	14	1	0	0	0	0	1	0	0	0	9836	1174	41	2	190	2	MRGPRX1	11	18955550	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	14112158	18955550	116050966	53	3114											
PAMR1	25891	broad.mit.edu	37	chr11	35454125	35454125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggttcccagctggcacagaAcatgttatcagtgacactca	11	9	10	11	0	2	2	2	1	0	1	3	2	3	2	1	2	2	4	1	2	2	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:35454125A>G	ENST00000378880.2	-	11	2387	c.1942T>C	c.(1942-1944)Ttc>Ctc	p.F648L	PAMR1_ENST00000532848.1_Missense_Mutation_p.F608L|PAMR1_ENST00000378878.3_Missense_Mutation_p.F537L|PAMR1_ENST00000278360.3_Missense_Mutation_p.F665L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	648	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CTGGCACAGAACATGTTATCA	0.597													15	42					0	0	0	0	G	35454125	A	G	35454125	3	3	14	1	0	0	0	0	1	0	0	0	11484	43	2	5	224	5	PAMR1	11	35454125	Missense_Mutation	SNP	A	TCGA-BA-5559-01A-01D-1512-08	16498575	35454125	99552391	54	3115											
LRP4	4038	broad.mit.edu	37	chr11	46911062	46911062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcgtgcagcctccgttGttgtccccacagcggttttt	4	13	12	12	3	0	0	0	0	0	0	2	0	2	0	4	2	4	4	4	2	0	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:46911062G>T	ENST00000378623.1	-	16	2357	c.2115C>A	c.(2113-2115)aaC>aaA	p.N705K		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	705	EGF-like 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGCCTCCGTTGTTGTCCCCAC	0.592											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	118					3.09899e-07	3.6749e-07	1	0	T	46911062	G	T	46911062	3	4	14	1	0	0	0	0	1	0	0	0	9023	1368	48	4	3694	4	LRP4	11	46911062	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	11456937	46911062	88095454	55	3116											
UBE2L6	9246	broad.mit.edu	37	chr11	57327824	57327824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcacgggtaggaggagagCgtgccacaccaggacattgg	11	5	15	10	2	1	1	1	0	0	1	1	4	1	3	2	5	2	1	2	5	1	2	rs35921478	byFrequency	TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:57327824C>T	ENST00000287156.4	-	2	304	c.109G>A	c.(109-111)Gct>Act	p.A37T	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	37					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						AGGAGGAGAGCGTGCCACACC	0.572													4	216					0	0	0	0	T	57327824	C	T	57327824	3	4	14	1	0	0	0	0	1	0	0	0	16960	768	27	1	364	1	UBE2L6	11	57327824	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	10416762	57327824	77678692	56	3117											
EFEMP2	30008	broad.mit.edu	37	chr11	65638052	65638052	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaccatcagggcaggtgcActgataggagccaggcaagt	12	6	14	9	0	1	1	1	1	0	0	1	2	1	2	2	4	3	4	2	4	3	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:65638052A>T	ENST00000307998.6	-	5	675	c.445T>A	c.(445-447)Tgc>Agc	p.C149S	EFEMP2_ENST00000528176.1_Missense_Mutation_p.C149S	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	149	EGF-like 2; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGGCAGGTGCACTGATAGGAG	0.622													13	27					0	0	0	0	T	65638052	A	T	65638052	3	4	14	1	0	0	0	0	1	0	0	0	4978	159	6	5	914	5	EFEMP2	11	65638052	Missense_Mutation	SNP	A	TCGA-BA-5559-01A-01D-1512-08	8310228	65638052	69368464	57	3118											
HYOU1	10525	broad.mit.edu	37	chr11	118925377	118925377	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggtgatcactgcatccttGatgggctgctctacagatga	9	11	11	10	1	2	4	1	3	1	1	3	4	3	4	1	2	3	3	1	2	1	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:118925377G>A	ENST00000404233.3	-	7	631	c.507C>T	c.(505-507)atC>atT	p.I169I	HYOU1_ENST00000543287.1_Silent_p.I82I|HYOU1_ENST00000525859.1_Silent_p.I169I|HYOU1_ENST00000529972.1_Silent_p.I169I	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	169						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CTGCATCCTTGATGGGCTGCT	0.542													9	26					0	0	0	0	A	118925377	G	A	118925377	2	1	14	1	0	0	0	0	0	0	0	1	7523	1280	45	2		2	HYOU1	11	118925377	Silent	SNP	G	TCGA-BA-5559-01A-01D-1512-08	53287325	118925377	16081139	58	3119											
LPAR5	57121	broad.mit.edu	37	chr12	6729533	6729533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgctaaagtagtacaccagCgggtccagcacgcagttggc	10	6	13	12	3	0	0	0	0	0	0	1	0	1	0	2	2	3	6	2	2	4	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:6729533C>T	ENST00000329858.4	-	2	1638	c.882G>A	c.(880-882)ccG>ccA	p.P294P	LPAR5_ENST00000431922.1_Silent_p.P294P	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	294						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						AGTACACCAGCGGGTCCAGCA	0.726													12	25					0	0	0	0	T	6729533	C	T	6729533	2	4	14	1	0	0	0	0	0	0	0	1	8972	755	27	1		1	LPAR5	12	6729533	Silent	SNP	C	TCGA-BA-5559-01A-01D-1512-08		6729533	127122362	59	3120											
CLEC1A	51267	broad.mit.edu	37	chr12	10233841	10233841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacacacttacctccaGctttgttatacagctcacga	11	10	6	14	1	1	0	1	0	0	0	2	2	2	1	3	1	4	3	3	1	3	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:10233841G>A	ENST00000315330.4	-	3	448	c.386C>T	c.(385-387)gCt>gTt	p.A129V	CLEC1A_ENST00000457018.2_Missense_Mutation_p.A96V|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	129					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CTTACCTCCAGCTTTGTTATA	0.453													13	264					0	0	0	0	A	10233841	G	A	10233841	3	1	14	1	0	0	0	0	1	0	0	0	3535	971	34	4	472	4	CLEC1A	12	10233841	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	3504308	10233841	123618054	60	3121											
PRB3	5544	broad.mit.edu	37	chr12	11421068	11421068	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctccttgtgggcgtcGtccttctggctttcctggag	1	16	12	12	2	1	0	0	0	1	0	6	1	5	1	4	3	0	2	4	3	0	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:11421068G>A	ENST00000381842.3	-	0	152				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGTGGGCGTCGTCCTTCTGGC	0.547													22	190					0	0	0	0	A	11421068	G	A	11421068	1	1	14	0	1	0	0	0	0	0	0	0	12524	1153	40	1		1	PRB3	12	11421068	RNA	SNP	G	TCGA-BA-5559-01A-01D-1512-08	1187227	11421068	122430827	61	3122											
PCBP2	5094	broad.mit.edu	37	chr12	53849269	53849269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaatcagttaagaagatgCgcgaggaggtaagttatgaa	16	8	14	3	2	1	4	1	1	0	3	1	7	1	5	0	2	1	3	0	2	6	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:53849269C>T	ENST00000603815.1	+	4	468	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	PCBP2_ENST00000359462.5_Missense_Mutation_p.R40C|PCBP2_ENST00000359282.5_Missense_Mutation_p.R40C|PCBP2_ENST00000541275.1_Missense_Mutation_p.R40C|PCBP2_ENST00000552819.1_Missense_Mutation_p.R40C|PCBP2_ENST00000549863.1_Missense_Mutation_p.R40C|PCBP2_ENST00000548933.1_Missense_Mutation_p.R40C|PCBP2_ENST00000546463.1_Missense_Mutation_p.R40C|PCBP2_ENST00000552296.2_Missense_Mutation_p.R40C|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Missense_Mutation_p.R40C|PCBP2_ENST00000447282.1_Missense_Mutation_p.R40C|PCBP2_ENST00000439930.3_Missense_Mutation_p.R40C|PCBP2_ENST00000437231.1_Missense_Mutation_p.R40C	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	40	KH 1.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TAAGAAGATGCGCGAGGAGGT	0.348													4	138					0	0	0	0	T	53849269	C	T	53849269	3	4	14	1	0	0	0	0	1	0	0	0	11572	768	27	1	128	1	PCBP2	12	53849269	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	42428201	53849269	80002626	62	3123											
NEDD1	121441	broad.mit.edu	37	chr12	97331091	97331091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aattgtcagagaagcacctgCcacgtccattgccacagttc	11	9	8	13	1	1	1	1	0	0	1	3	2	2	1	4	0	3	2	4	0	2	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:97331091C>T	ENST00000266742.4	+	9	1376	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	NEDD1_ENST00000457368.2_Missense_Mutation_p.A257V|NEDD1_ENST00000557644.1_Missense_Mutation_p.A353V|NEDD1_ENST00000411739.2_Missense_Mutation_p.A257V|NEDD1_ENST00000429527.2_Missense_Mutation_p.A346V	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	346					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GAAGCACCTGCCACGTCCATT	0.433													104	109					0	0	0	0	T	97331091	C	T	97331091	3	4	14	1	0	0	0	0	1	0	0	0	10379	739	26	4	1088	4	NEDD1	12	97331091	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	43481822	97331091	36520804	63	3124											
SSH1	54434	broad.mit.edu	37	chr12	109182226	109182226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagaaaggaggggggctCttcagtgagcctccttccaa	11	8	13	9	0	2	3	1	1	1	2	4	4	4	4	3	4	1	1	3	4	4	3	rs148301801		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:109182226C>A	ENST00000326495.5	-	15	2781	c.2688G>T	c.(2686-2688)aaG>aaT	p.K896N	SSH1_ENST00000360239.3_Missense_Mutation_p.K584N	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	896					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGGGGGGCTCTTCAGTGAGC	0.597													26	72					3.6726e-16	4.4739e-16	1	0	A	109182226	C	A	109182226	3	1	14	1	0	0	0	0	1	0	0	0	15274	912	32	2	465	2	SSH1	12	109182226	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	11851135	109182226	24669669	64	3125											
RIMBP2	23504	broad.mit.edu	37	chr12	130927171	130927171	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaagtccacgaagttggaGggcaccagacccctctggcc	11	5	11	14	1	1	1	0	0	1	1	2	3	2	2	5	3	0	2	5	3	2	1			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:130927171G>A	ENST00000261655.4	-	8	838	c.675C>T	c.(673-675)ccC>ccT	p.P225P	RIMBP2_ENST00000536002.1_Silent_p.P133P|RIMBP2_ENST00000535703.1_Silent_p.P133P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	225	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGAAGTTGGAGGGCACCAGAC	0.597													34	46					0	0	0	0	A	130927171	G	A	130927171	2	1	14	1	0	0	0	0	0	0	0	1	13446	987	35	4		4	RIMBP2	12	130927171	Silent	SNP	G	TCGA-BA-5559-01A-01D-1512-08	21744945	130927171	2924724	65	3126											
INTS6	26512	broad.mit.edu	37	chr13	51957877	51957877	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggatgagatgtacgaggtgGctaaaggggaaagtcttgta	13	9	16	3	1	1	1	0	1	1	1	1	5	1	3	0	5	1	3	0	5	5	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr13:51957877G>A	ENST00000311234.4	-	8	1367	c.894_splice	c.e8-1	p.P299_splice	INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Splice_Site_p.P121_splice|INTS6_ENST00000490542.1_5'UTR|INTS6_ENST00000398119.2_Splice_Site_p.P286_splice|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000420668.2_3'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	299					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	p.P299S(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GTACGAGGTGGCTAAAGGGGA	0.353													10	91					0	0	0	0	A	51957877	G	A	51957877	5	1	14	1	0	0	0	0	0	0	1	0	7835	1217	42	4	1812	4	INTS6	13	51957877	Splice_Site	SNP	G	TCGA-BA-5559-01A-01D-1512-08		51957877	63212001	66	3127											
ATP7B	540	broad.mit.edu	37	chr13	52548430	52548430	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatagccctctgcagagccActgggctggtacaagaaggg	10	6	14	11	1	1	2	0	0	1	2	1	3	1	2	2	3	4	3	2	3	4	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr13:52548430A>G	ENST00000242839.4	-	2	1082	c.926T>C	c.(925-927)gTg>gCg	p.V309A	ATP7B_ENST00000418097.2_Missense_Mutation_p.V309A|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.V309A|ATP7B_ENST00000344297.5_Missense_Mutation_p.V309A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.V309A|ATP7B_ENST00000542656.1_Missense_Mutation_p.V277A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	309	HMA 3.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTGCAGAGCCACTGGGCTGGT	0.488									Wilson disease				23	109					0	0	0	0	G	52548430	A	G	52548430	3	3	14	1	0	0	0	0	1	0	0	0	1195	159	6	5	3551	5	ATP7B	13	52548430	Missense_Mutation	SNP	A	TCGA-BA-5559-01A-01D-1512-08	590553	52548430	62621448	67	3128											
OR11H4	390442	broad.mit.edu	37	chr14	20711912	20711912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtttggaatgagaattcGtcaaaattcgtgagccaaag	13	11	10	7	2	1	2	1	2	0	1	3	4	1	3	2	1	1	1	2	1	5	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr14:20711912G>A	ENST00000315409.2	+	1	1015	c.962G>A	c.(961-963)cGt>cAt	p.R321H		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATGAGAATTCGTCAAAATTCG	0.393													39	80					0	0	0	0	A	20711912	G	A	20711912	3	1	14	1	0	0	0	0	1	0	0	0	10999	1145	40	1	964	1	OR11H4	14	20711912	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08		20711912	86637628	68	3129											
PLEK2	26499	broad.mit.edu	37	chr14	67864498	67864498	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtacaccagcgtgttctGccgaaggatgaaccatcgcg	10	8	12	11	4	1	1	0	1	1	0	2	3	1	2	3	1	4	3	3	1	4	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr14:67864498G>A	ENST00000216446.4	-	2	228	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	PLEK2_ENST00000557388.1_5'UTR	NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	30	PH 1.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		AGCGTGTTCTGCCGAAGGATG	0.602													9	24					0	0	0	0	A	67864498	G	A	67864498	4	1	14	1	0	0	0	0	0	1	0	0	12126	1328	46	4	1005	4	PLEK2	14	67864498	Nonsense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	47152586	67864498	39485042	69	3130											
LGMN	5641	broad.mit.edu	37	chr14	93172859	93172859	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagttgaagcagtgggtcCggaagtgcagcagggcctct	8	7	16	10	1	1	1	0	1	1	0	2	2	2	2	3	3	3	4	3	3	2	1			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr14:93172859C>A	ENST00000393218.2	-	13	1497	c.1160G>T	c.(1159-1161)cGg>cTg	p.R387L	LGMN_ENST00000557434.1_Intron|LGMN_ENST00000334869.4_Missense_Mutation_p.R387L|LGMN_ENST00000555699.1_Intron	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	387					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GCAGTGGGTCCGGAAGTGCAG	0.627													3	81					0.115264	0.124559	1	0	A	93172859	C	A	93172859	3	1	14	1	0	0	0	0	1	0	0	0	8809	652	23	3	153	3	LGMN	14	93172859	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	25308361	93172859	14176681	70	3131											
TTC23	64927	broad.mit.edu	37	chr15	99762036	99762036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaattcttgtcagtgctaCgcaacgcacaagctcatgga	12	9	9	11	2	3	0	2	0	1	0	3	1	3	1	0	1	4	5	0	1	4	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr15:99762036C>T	ENST00000394132.2	-	6	1031	c.214G>A	c.(214-216)Gta>Ata	p.V72I	TTC23_ENST00000558663.1_Missense_Mutation_p.V72I|TTC23_ENST00000394136.1_Missense_Mutation_p.V72I|TTC23_ENST00000394130.1_Missense_Mutation_p.V72I|TTC23_ENST00000394135.3_Missense_Mutation_p.V72I|TTC23_ENST00000262074.4_Missense_Mutation_p.V72I|TTC23_ENST00000558613.1_Missense_Mutation_p.V72I|TTC23_ENST00000394129.2_Missense_Mutation_p.V72I			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	72							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GTCAGTGCTACGCAACGCACA	0.448													14	48					0	0	0	0	T	99762036	C	T	99762036	3	4	14	1	0	0	0	0	1	0	0	0	16786	536	19	1	1165	1	TTC23	15	99762036	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08		99762036	2769356	71	3132											
ACSM2B	348158	broad.mit.edu	37	chr16	20565101	20565101	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagagctcagcttacccAgcatccatcttggccttgag	11	9	9	12	0	2	3	1	1	1	2	3	3	3	3	3	1	4	3	3	1	2	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:20565101A>C	ENST00000329697.6	-	5	906	c.738T>G	c.(736-738)gcT>gcG	p.A246A	ACSM2B_ENST00000567001.1_Silent_p.A246A|ACSM2B_ENST00000565232.1_Silent_p.A246A|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Silent_p.A167A	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	246					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAGCTTACCCAGCATCCATCT	0.512													27	104					0	0	0	0	C	20565101	A	C	20565101	2	2	14	1	0	0	0	0	0	0	0	1	184	175	7	5		5	ACSM2B	16	20565101	Silent	SNP	A	TCGA-BA-5559-01A-01D-1512-08		20565101	69789652	72	3133											
EARS2	124454	broad.mit.edu	37	chr16	23541092	23541092	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaggaggatcctctccacGtagactgggttgaggacatc	10	8	13	10	1	1	2	0	1	1	1	4	5	2	5	2	4	1	3	2	4	1	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:23541092G>A	ENST00000449606.1	-	6	1225	c.1194C>T	c.(1192-1194)taC>taT	p.Y398Y	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Silent_p.Y398Y|EARS2_ENST00000563459.1_Silent_p.Y398Y|EARS2_ENST00000563232.1_Silent_p.Y398Y	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	398					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	TCCTCTCCACGTAGACTGGGT	0.592													27	181					0	0	0	0	A	23541092	G	A	23541092	2	1	14	1	0	0	0	0	0	0	0	1	4914	1140	40	1		1	EARS2	16	23541092	Silent	SNP	G	TCGA-BA-5559-01A-01D-1512-08	2975991	23541092	66813661	73	3134											
CYLD	1540	broad.mit.edu	37	chr16	50811826	50811826	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaaccacaatccaaatCaaaaaatacatggtacattg	19	8	3	11	0	2	0	2	0	0	0	3	0	3	0	2	1	3	1	2	1	8	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:50811826C>A	ENST00000540145.1	+	8	1527	c.1112C>A	c.(1111-1113)tCa>tAa	p.S371*	CYLD_ENST00000398568.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.S371*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.S371*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	371	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.S371*(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CAATCCAAATCAAAAAATACA	0.313			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				7	126					8.12818e-05	9.23031e-05	1	0	A	50811826	C	A	50811826	4	1	14	1	0	0	0	0	0	1	0	0	4175	838	29	2	1134	2	CYLD	16	50811826	Nonsense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	27270734	50811826	39542927	74	3135											
CDH11	1009	broad.mit.edu	37	chr16	65032522	65032522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcgtgcaggaactccggagGgttgtcattaatgtcctgga	8	11	13	9	2	1	0	1	0	0	0	4	3	3	3	2	4	2	2	2	4	2	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:65032522G>T	ENST00000394156.3	-	4	919	c.466C>A	c.(466-468)Cct>Act	p.P156T	CDH11_ENST00000566827.1_Missense_Mutation_p.P30T|CDH11_ENST00000268603.4_Missense_Mutation_p.P156T			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	156	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AACTCCGGAGGGTTGTCATTA	0.587			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			9	95					7.48243e-07	8.79514e-07	1	0	T	65032522	G	T	65032522	3	4	14	1	0	0	0	0	1	0	0	0	3126	1232	43	4	1964	4	CDH11	16	65032522	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	14220696	65032522	25322231	75	3136											
PIK3R5	23533	broad.mit.edu	37	chr17	8812440	8812440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggataaggaagtggcccGggtccctgctgaccagctcc	8	6	15	12	1	0	1	0	1	0	0	2	4	2	4	4	5	2	2	4	5	2	1			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr17:8812440G>A	ENST00000447110.1	-	3	279	c.155C>T	c.(154-156)cCg>cTg	p.P52L	PIK3R5_ENST00000584803.1_Missense_Mutation_p.P52L|PIK3R5_ENST00000581552.1_Missense_Mutation_p.P52L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	52	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GAAGTGGCCCGGGTCCCTGCT	0.592													3	30					0	0	0	0	A	8812440	G	A	8812440	3	1	14	1	0	0	0	0	1	0	0	0	11994	1116	39	1	2555	1	PIK3R5	17	8812440	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08		8812440	72382770	76	3137											
KRT38	8687	broad.mit.edu	37	chr17	39593678	39593678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaattcagaatcggcttcCggtggtgctggctccacagg	8	9	14	10	2	1	1	1	0	0	1	4	2	3	2	2	6	1	3	2	6	2	2	rs148086126	byFrequency	TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr17:39593678C>T	ENST00000246646.3	-	7	1356	c.1357G>A	c.(1357-1359)Gga>Aga	p.G453R		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	453	Tail.					intermediate filament	structural molecule activity	p.G453R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AATCGGCTTCCGGTGGTGCTG	0.592													8	9					0	0	0	0	T	39593678	C	T	39593678	3	4	14	1	0	0	0	0	1	0	0	0	8527	661	23	1	17	1	KRT38	17	39593678	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	30781238	39593678	41601532	77	3138											
BRIP1	83990	broad.mit.edu	37	chr17	59876570	59876570	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaccgaagctgaacttctgTtacactgtaacttgctgatt	12	13	7	9	1	1	2	0	2	1	0	1	3	1	2	1	0	6	4	1	0	5	5			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr17:59876570T>C	ENST00000259008.2	-	9	1498	c.1231A>G	c.(1231-1233)Aca>Gca	p.T411A	BRIP1_ENST00000577598.1_Missense_Mutation_p.T411A	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	411	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TGAACTTCTGTTACACTGTAA	0.398			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					37	135					0	0	0	0	C	59876570	T	C	59876570	3	2	14	1	0	0	0	0	1	0	0	0	1522	1725	60	5	2566	5	BRIP1	17	59876570	Missense_Mutation	SNP	T	TCGA-BA-5559-01A-01D-1512-08	20282892	59876570	21318640	78	3139											
SLC25A19	60386	broad.mit.edu	37	chr17	73282528	73282528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcactgcgagacaggcGctcatgctgaagctaggaat	10	7	15	9	2	2	2	2	1	0	1	2	4	2	3	0	4	3	3	0	4	3	1			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr17:73282528G>A	ENST00000402418.3	-	2	1054	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	SLC25A19_ENST00000442286.2_Missense_Mutation_p.R49C|SLC25A19_ENST00000320362.3_Missense_Mutation_p.R49C|SLC25A19_ENST00000580994.1_Missense_Mutation_p.R49C|SLC25A19_ENST00000375261.4_Missense_Mutation_p.R49C|SLC25A19_ENST00000416858.2_Missense_Mutation_p.R49C			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	49						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			CGAGACAGGCGCTCATGCTGA	0.532													4	118					0	0	0	0	A	73282528	G	A	73282528	3	1	14	1	0	0	0	0	1	0	0	0	14569	1087	38	1	837	1	SLC25A19	17	73282528	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	13405958	73282528	7912682	79	3140											
LAMA1	284217	broad.mit.edu	37	chr18	7080343	7080343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgggtttcggacgggccGacctggcacatgctccacaa	7	8	13	13	3	0	0	0	0	0	0	2	2	1	1	3	4	1	3	3	4	1	1			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr18:7080343G>A	ENST00000389658.3	-	2	268	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	59	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGACGGGCCGACCTGGCACA	0.547													72	110					0	0	0	0	A	7080343	G	A	7080343	3	1	14	1	0	0	0	0	1	0	0	0	8658	1057	37	1	9300	1	LAMA1	18	7080343	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08		7080343	70996905	80	3141											
MC2R	4158	broad.mit.edu	37	chr18	13885277	13885277	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcaatatgatcaggatatTttccaagatcttatataggc	13	15	6	7	0	3	2	2	1	2	1	5	3	4	3	1	2	0	0	1	2	7	7			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr18:13885277T>A	ENST00000327606.3	-	2	421	c.241A>T	c.(241-243)Aat>Tat	p.N81Y		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	81					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ATCAGGATATTTTCCAAGATC	0.448													108	43					0	0	0	0	A	13885277	T	A	13885277	3	1	14	1	0	0	0	0	1	0	0	0	9433	1841	64	5	656	5	MC2R	18	13885277	Missense_Mutation	SNP	T	TCGA-BA-5559-01A-01D-1512-08	6804934	13885277	64191971	81	3142											
SERPINB10	5273	broad.mit.edu	37	chr18	61602476	61602476	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagattatgctccccctaAatcctgcatatctctcaaca	12	11	5	13	0	2	1	1	0	1	1	5	2	4	2	3	1	3	2	3	1	6	3			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr18:61602476A>T	ENST00000238508.3	+	8	1253	c.1194A>T	c.(1192-1194)taA>taT	p.*398Y	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GCTCCCCCTAAATCCTGCATA	0.363													43	211					0	0	0	0	T	61602476	A	T	61602476	4	4	14	1	0	0	0	0	0	0	0	0	14184	29	1	5	1220	5	SERPINB10	18	61602476	Nonstop_Mutation	SNP	A	TCGA-BA-5559-01A-01D-1512-08	47717199	61602476	16474772	82	3143											
ZNF407	55628	broad.mit.edu	37	chr18	72343784	72343784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcaaaacacatctccGtcgtcagaatctggctgctc	9	11	8	13	2	4	1	1	0	3	1	7	1	4	1	1	2	2	3	1	2	3	1			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr18:72343784G>A	ENST00000299687.5	+	1	809	c.809G>A	c.(808-810)cGt>cAt	p.R270H	ZNF407_ENST00000309902.6_Missense_Mutation_p.R270H|ZNF407_ENST00000582337.1_Missense_Mutation_p.R270H|ZNF407_ENST00000577538.1_Missense_Mutation_p.R270H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R270H(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACACATCTCCGTCGTCAGAAT	0.403													11	195					0	0	0	0	A	72343784	G	A	72343784	3	1	14	1	0	0	0	0	1	0	0	0	17982	1145	40	1	811	1	ZNF407	18	72343784	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	10741308	72343784	5733464	83	3144											
ZNF208	7757	broad.mit.edu	37	chr19	22156525	22156525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatgttccataaggtttgaGgaccagttgaaagctttgcc	10	14	10	7	0	0	2	0	2	0	0	1	3	1	3	3	2	2	4	3	2	3	6			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr19:22156525G>A	ENST00000397126.4	-	4	1459	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGGTTTGAGGACCAGTTGA	0.378													11	169					0	0	0	0	A	22156525	G	A	22156525	2	1	14	1	0	0	0	0	0	0	0	1	17861	987	35	4		4	ZNF208	19	22156525	Silent	SNP	G	TCGA-BA-5559-01A-01D-1512-08		22156525	36972458	84	3145											
BLVRB	645	broad.mit.edu	37	chr19	40971542	40971542	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccgcctgcgccagggtGgtgagcccggtctggccagt	4	7	16	14	3	1	1	0	1	1	0	1	1	1	1	5	4	3	1	5	4	0	0			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr19:40971542G>A	ENST00000263368.4	-	1	205	c.54C>T	c.(52-54)acC>acT	p.T18T	BLVRB_ENST00000595483.1_Silent_p.T18T	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	18					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	GCGCCAGGGTGGTGAGCCCGG	0.687													11	26					0	0	0	0	A	40971542	G	A	40971542	2	1	14	1	0	0	0	0	0	0	0	1	1457	1335	47	4		4	BLVRB	19	40971542	Silent	SNP	G	TCGA-BA-5559-01A-01D-1512-08	18815017	40971542	18157441	85	3146											
ZNF610	162963	broad.mit.edu	37	chr19	52857030	52857030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttatacagggacgtgatGttggagaactacaggaacct	12	10	12	7	1	0	2	0	1	0	1	0	5	0	4	1	3	4	2	1	3	5	5			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr19:52857030G>A	ENST00000601151.1	+	4	611	c.159G>A	c.(157-159)atG>atA	p.M53I	ZNF610_ENST00000327920.8_Missense_Mutation_p.M53I|ZNF610_ENST00000403906.3_Missense_Mutation_p.M53I|ZNF610_ENST00000321287.8_Missense_Mutation_p.M53I	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGGACGTGATGTTGGAGAACT	0.512													26	203					0	0	0	0	A	52857030	G	A	52857030	3	1	14	1	0	0	0	0	1	0	0	0	18131	1377	48	4	165	4	ZNF610	19	52857030	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	11885488	52857030	6271953	86	3147											
ZNF71	58491	broad.mit.edu	37	chr19	57132929	57132929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtcctggtcccaccaCggctggacgaccccacagaa	8	6	11	16	2	0	1	0	0	0	1	2	3	2	2	5	3	0	2	5	3	1	0			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr19:57132929C>T	ENST00000328070.6	+	3	508	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	92						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGTCCCACCACGGCTGGACGA	0.582													5	82					0	0	0	0	T	57132929	C	T	57132929	3	4	14	1	0	0	0	0	1	0	0	0	18209	527	19	1	276	1	ZNF71	19	57132929	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	4275899	57132929	1996054	87	3148											
ZNF835	90485	broad.mit.edu	37	chr19	57175917	57175917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgtagggccgctcgcccGtgtgcacgcgccggtgctgg	3	6	17	15	8	0	0	0	0	0	0	1	0	0	0	3	3	2	4	3	3	1	1			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr19:57175917G>A	ENST00000537055.2	-	2	881	c.650C>T	c.(649-651)aCg>aTg	p.T217M		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.T239M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCGCTCGCCCGTGTGCACGCG	0.711													7	18					0	0	0	0	A	57175917	G	A	57175917	3	1	14	1	0	0	0	0	1	0	0	0	18279	1145	40	1	965	1	ZNF835	19	57175917	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	42988	57175917	1953066	88	3149											
ITCH	83737	broad.mit.edu	37	chr20	33033193	33033193	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actggaatccgtccggaactAtgaacaatggcagctacagc	13	7	10	11	2	0	1	0	1	0	0	2	3	2	3	2	3	5	2	2	3	6	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr20:33033193A>G	ENST00000374864.4	+	11	1280	c.1067A>G	c.(1066-1068)tAt>tGt	p.Y356C	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Missense_Mutation_p.Y246C|ITCH_ENST00000262650.6_Missense_Mutation_p.Y397C	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	397	WW 1.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GTCCGGAACTATGAACAATGG	0.458													85	137					0	0	0	0	G	33033193	A	G	33033193	3	3	14	1	0	0	0	0	1	0	0	0	7921	449	16	5	1101	5	ITCH	20	33033193	Missense_Mutation	SNP	A	TCGA-BA-5559-01A-01D-1512-08		33033193	29992327	89	3150											
ZHX3	23051	broad.mit.edu	37	chr20	39831282	39831285	+	Frame_Shift_Del	DEL	GTTT	GTTT	-																															gcctgggagctgctctgccaGtttgtttgactcatcatcct																										TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr20:39831282_39831285delGTTT	ENST00000309060.3	-	4	2687_2690	c.2272_2275delAAAC	c.(2272-2277)tgfs	p.KL758fs	ZHX3_ENST00000560361.1_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.KL758fs			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	758					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TGCTCTGCCAGTTTGTTTGACTCA	0.544													24	125	---	---	---	---					-	39831285	GTTT	-	39831282	7	5	14	1	0	1	0	1	0	0	0	0	17772	1020	36	0	603	0	ZHX3	20	39831282	Frame_Shift_Del	DEL	GTTT	TCGA-BA-5559-01A-01D-1512-08	6798089	39831282	23194238	90	3151											
ZNF335	63925	broad.mit.edu	37	chr20	44579141	44579141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctcctttgtgtgagtcaGcatgtgccgacgcaggtcct	5	13	11	12	2	2	1	1	1	1	0	4	2	3	1	3	1	2	2	3	1	0	2			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr20:44579141G>A	ENST00000322927.2	-	21	3383	c.3283C>T	c.(3283-3285)Ctg>Ttg	p.L1095L	ZNF335_ENST00000426788.1_Silent_p.L940L	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1095					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GTGTGAGTCAGCATGTGCCGA	0.597													4	236					0	0	0	0	A	44579141	G	A	44579141	2	1	14	1	0	0	0	0	0	0	0	1	17947	962	34	4		4	ZNF335	20	44579141	Silent	SNP	G	TCGA-BA-5559-01A-01D-1512-08	4747859	44579141	18446379	91	3152											
CCT8	10694	broad.mit.edu	37	chr21	30440001	30440001	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatatgagaagccattacaAtcatttttgcagcaggatgc	13	11	9	8	0	1	1	1	1	0	1	1	3	1	2	1	1	5	3	1	1	4	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr21:30440001A>G	ENST00000286788.4	-	4	463	c.257T>C	c.(256-258)aTt>aCt	p.I86T	CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	86					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGCCATTACAATCATTTTTGC	0.368													4	134					0	0	0	0	G	30440001	A	G	30440001	3	3	14	1	0	0	0	0	1	0	0	0	2989	101	4	5	1437	5	CCT8	21	30440001	Missense_Mutation	SNP	A	TCGA-BA-5559-01A-01D-1512-08		30440001	17689894	92	3153											
COL6A2	1292	broad.mit.edu	37	chr21	47545457	47545457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgggtacaccaacttcaCactggagaagaacttcgtca	13	9	8	11	1	2	2	2	0	0	2	3	3	2	2	1	2	3	1	1	2	4	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr21:47545457C>A	ENST00000300527.4	+	25	1999	c.1895C>A	c.(1894-1896)aCa>aAa	p.T632K	COL6A2_ENST00000357838.4_Missense_Mutation_p.T632K|COL6A2_ENST00000310645.5_Missense_Mutation_p.T632K|COL6A2_ENST00000397763.1_Missense_Mutation_p.T632K|COL6A2_ENST00000409416.1_Missense_Mutation_p.T632K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	632	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACCAACTTCACACTGGAGAAG	0.617													3	42					0.004672	0.00517395	1	0	A	47545457	C	A	47545457	3	1	14	1	0	0	0	0	1	0	0	0	3730	478	17	4	1989	4	COL6A2	21	47545457	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	17105456	47545457	584438	93	3154											
IL2RB	3560	broad.mit.edu	37	chr22	37524391	37524391	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccccaggggctgggggtcCcagtctctggggactctttc	3	9	16	13	0	2	0	0	0	2	0	5	1	3	1	3	7	0	1	3	7	0	1			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr22:37524391C>A	ENST00000216223.5	-	10	1599	c.1401G>T	c.(1399-1401)tgG>tgT	p.W467C		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	467					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCTGGGGGTCCCAGTCTCTGG	0.682													5	50					0.014758	0.0160778	1	0	A	37524391	C	A	37524391	3	1	14	1	0	0	0	0	1	0	0	0	7740	624	22	4	258	4	IL2RB	22	37524391	Missense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08		37524391	13780175	94	3155											
EP300	2033	broad.mit.edu	37	chr22	41553402	41553402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagccttggatactgttGtggcagaaaggtaagaaatg	14	9	13	5	0	0	2	0	0	0	2	0	3	0	3	1	3	2	4	1	3	5	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr22:41553402G>A	ENST00000263253.7	+	18	4710	c.3491G>A	c.(3490-3492)tGt>tAt	p.C1164Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1164					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGATACTGTTGTGGCAGAAAG	0.393			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				113	70					0	0	0	0	A	41553402	G	A	41553402	3	1	14	1	0	0	0	0	1	0	0	0	5186	1377	48	4	3561	4	EP300	22	41553402	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	4029011	41553402	9751164	95	3156											
CLCN4	1183	broad.mit.edu	37	chrX	10176320	10176320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgcctggtgcaggaggcGcaagaccaccaggctgggga	9	4	16	12	2	0	1	0	0	0	1	1	3	0	3	3	6	1	3	3	6	1	0			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chrX:10176320G>A	ENST00000380833.4	+	9	1470	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	CLCN4_ENST00000380829.1_Missense_Mutation_p.R329H|CLCN4_ENST00000421085.2_Missense_Mutation_p.R266H	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	360						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCAGGAGGCGCAAGACCACC	0.597													4	171					0	0	0	0	A	10176320	G	A	10176320	3	1	14	1	0	0	0	0	1	0	0	0	3495	1087	38	1	1105	1	CLCN4	23	10176320	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08		10176320	145094240	96	3157											
OR13H1	347468	broad.mit.edu	37	chrX	130678201	130678201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatctttcttattcactttGaccccaacctccacactcca	9	14	2	16	0	3	2	1	2	2	0	5	2	5	2	5	0	1	0	5	0	2	4			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chrX:130678201G>A	ENST00000338616.3	+	1	252	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TATTCACTTTGACCCCAACCT	0.413													61	177					0	0	0	0	A	130678201	G	A	130678201	3	1	14	1	0	0	0	0	1	0	0	0	11014	1290	45	2	156	2	OR13H1	23	130678201	Missense_Mutation	SNP	G	TCGA-BA-5559-01A-01D-1512-08	120501881	130678201	24592359	97	3158											
IL9R	3581	broad.mit.edu	37	chrX	155232635	155232635	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctcctggcctgcatctgCatctgcacctgtgtctgctt	3	14	10	14	0	3	0	0	0	3	0	4	0	4	0	3	2	4	5	3	2	0	1			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chrX:155232635C>A	ENST00000424344.3	+	3	397	c.30C>A	c.(28-30)tgC>tgA	p.C10*	IL9R_ENST00000540897.1_Nonsense_Mutation_p.C68*|IL9R_ENST00000244174.5_Nonsense_Mutation_p.C31*|IL9R_ENST00000369423.2_Nonsense_Mutation_p.C78*			Q01113	IL9R_HUMAN	interleukin 9 receptor	31					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTGCATCTGCATCTGCACCT	0.597													51	134					6.14515e-18	7.62454e-18	1	0	A	155232635	C	A	155232635	4	1	14	1	0	0	0	0	0	1	0	0	7761	718	25	4	99	4	IL9R	23	155232635	Nonsense_Mutation	SNP	C	TCGA-BA-5559-01A-01D-1512-08	24554434	155232635	37925	98	3159											
KIF1B	23095	broad.mit.edu	37	chr1	10364177	10364177	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagtcctgggacacatatCatcataacagaagatgaggt	14	9	11	7	0	2	3	2	1	0	2	3	5	3	5	1	3	1	0	1	3	3	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:10364177C>T	ENST00000377093.4	+	21	3087	c.2934C>T	c.(2932-2934)atC>atT	p.I978I	KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Silent_p.I978I	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGACACATATCATCATAACAG	0.453													55	67					0	0	0	0	T	10364177	C	T	10364177	2	4	15	1	0	0	0	0	0	0	0	1	8335	816	29	2		2	KIF1B	1	10364177	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08		10364177	238886444	1	3160											
PRDM2	7799	broad.mit.edu	37	chr1	14108768	14108768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaaaaaaagtttctcattCatctaagaaaggtggacact	18	10	6	7	0	3	1	2	0	2	1	4	2	3	2	0	2	0	1	0	2	6	3			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:14108768C>T	ENST00000235372.7	+	8	5334	c.4478C>T	c.(4477-4479)tCa>tTa	p.S1493L	PRDM2_ENST00000343137.4_Missense_Mutation_p.S1292L|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1493L|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1292L	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1493						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTTTCTCATTCATCTAAGAAA	0.448													56	161					0	0	0	0	T	14108768	C	T	14108768	3	4	15	1	0	0	0	0	1	0	0	0	12538	838	29	2	4504	2	PRDM2	1	14108768	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	3744591	14108768	235141853	2	3161											
CROCC	9696	broad.mit.edu	37	chr1	17275397	17275397	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagccgaggggcaggccctgCtgctggccaaggagaccctg	8	4	16	13	1	0	1	0	0	0	1	0	3	0	1	4	5	3	3	4	5	2	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:17275397C>T	ENST00000375541.5	+	19	2881	c.2812C>T	c.(2812-2814)Ctg>Ttg	p.L938L	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	938					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGGCCCTGCTGCTGGCCAA	0.677													5	67					0	0	0	0	T	17275397	C	T	17275397	2	4	15	1	0	0	0	0	0	0	0	1	3923	796	28	4		4	CROCC	1	17275397	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08	3166629	17275397	231975224	3	3162											
ZMYM6	9204	broad.mit.edu	37	chr1	35452758	35452759	+	Frame_Shift_Ins	INS	-	-	A																															ggaattaaagatgtgactgcINSaagtcttagggcagggccag																										TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:35452758_35452759insA	ENST00000357182.4	-	16	4151_4152	c.3924_3925insT	c.(3922-3927)ctcagtfs	p.S1309fs	ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1309					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GATGTGACTGCAAGTCTTAGGG	0.366													27	55	---	---	---	---					A	35452759	-	A	35452758	7	5	15	1	0	1	1	0	0	0	0	0	17799	710	25	0	56	0	ZMYM6	1	35452758	Frame_Shift_Ins	INS	-	TCGA-BA-6868-01B-12D-1912-08	18177361	35452758	213797863	4	3163											
DOCK7	85440	broad.mit.edu	37	chr1	63027299	63027299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaactcacttgtgtatggaTagacgaaacagcaacaactt	17	9	7	8	1	1	1	1	0	0	1	1	3	1	2	0	1	5	2	0	1	7	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:63027299T>C	ENST00000251157.5	-	19	2221	c.2188A>G	c.(2188-2190)Atc>Gtc	p.I730V	DOCK7_ENST00000340370.5_Missense_Mutation_p.I730V	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	730	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGTGTATGGATAGACGAAACA	0.294													39	66					0	0	0	0	C	63027299	T	C	63027299	3	2	15	1	0	0	0	0	1	0	0	0	4728	1406	49	5	4265	5	DOCK7	1	63027299	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08	27574541	63027299	186223322	5	3164											
COL11A1	1301	broad.mit.edu	37	chr1	103474059	103474059	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacctttggccccagatGaaccaggccccccctataga	9	8	7	17	0	1	3	1	1	1	2	2	3	1	3	7	2	1	0	7	2	3	3			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:103474059G>T	ENST00000358392.2	-	15	1996	c.1679C>A	c.(1678-1680)tCa>tAa	p.S560*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.S432*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.S548*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.S509*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	548	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGCCCCAGATGAACCAGGCCC	0.373													14	36					1.3612e-06	1.75929e-06	1	0	T	103474059	G	T	103474059	4	4	15	1	0	0	0	0	0	1	0	0	3697	1294	45	2	3989	2	COL11A1	1	103474059	Nonsense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	40446760	103474059	145776562	6	3165											
ATP1A1	476	broad.mit.edu	37	chr1	116927412	116927412	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcccttaggatgatcAtaaacttagccttgatgaac	11	15	7	8	0	1	3	1	3	0	0	2	4	2	4	2	1	3	1	2	1	5	6			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:116927412A>G	ENST00000537345.1	+	3	494	c.131A>G	c.(130-132)cAt>cGt	p.H44R	ATP1A1_ENST00000295598.5_Missense_Mutation_p.H44R|ATP1A1_ENST00000369496.4_Missense_Mutation_p.H13R	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	44					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TAGGATGATCATAAACTTAGC	0.313													22	39					0	0	0	0	G	116927412	A	G	116927412	3	3	15	1	0	0	0	0	1	0	0	0	1132	217	8	5	157	5	ATP1A1	1	116927412	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	13453353	116927412	132323209	7	3166											
SMG5	23381	broad.mit.edu	37	chr1	156243195	156243195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtagtaaaatctctcGgctagcagctcggtatctac	9	12	10	10	2	2	0	0	0	2	0	5	0	2	0	0	3	3	7	0	3	6	6	rs151161240	byFrequency	TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:156243195G>A	ENST00000361813.5	-	6	735	c.591C>T	c.(589-591)gcC>gcT	p.A197A	SMG5_ENST00000368267.4_Silent_p.A197A	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	197					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AAAATCTCTCGGCTAGCAGCT	0.468													19	32					0	0	0	0	A	156243195	G	A	156243195	2	1	15	1	0	0	0	0	0	0	0	1	14884	1103	39	1		1	SMG5	1	156243195	Silent	SNP	G	TCGA-BA-6868-01B-12D-1912-08	39315783	156243195	93007426	8	3167											
GORAB	92344	broad.mit.edu	37	chr1	170508524	170508524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagttaacgttcaaaaaccaCctttttcttcccctactctt	10	15	3	13	1	3	0	1	0	2	0	4	1	4	0	4	0	3	2	4	0	4	7			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:170508524C>A	ENST00000367763.3	+	2	330	c.310C>A	c.(310-312)Cct>Act	p.P104T	GORAB_ENST00000465717.1_3'UTR|GORAB_ENST00000367762.1_Missense_Mutation_p.P104T	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	104						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TCAAAAACCACCTTTTTCTTC	0.473													16	43					0.000308642	0.000389714	1	0	A	170508524	C	A	170508524	3	1	15	1	0	0	0	0	1	0	0	0	6622	507	18	4	316	4	GORAB	1	170508524	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	14265329	170508524	78742097	9	3168											
STX6	10228	broad.mit.edu	37	chr1	180959168	180959168	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaatgagaattggctctctgGagctctcggtccagacgccc	9	9	11	12	2	2	2	0	1	2	2	5	4	3	3	2	3	1	2	2	3	2	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:180959168G>C	ENST00000258301.5	-	5	678	c.441C>G	c.(439-441)ctC>ctG	p.L147L	STX6_ENST00000542060.1_Silent_p.L46L	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	147					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						TGGCTCTCTGGAGCTCTCGGT	0.557													48	66					0	0	0	0	C	180959168	G	C	180959168	2	2	15	1	0	0	0	0	0	0	0	1	15439	1161	41	2		2	STX6	1	180959168	Silent	SNP	G	TCGA-BA-6868-01B-12D-1912-08	10450644	180959168	68291453	10	3169											
KLHDC8A	55220	broad.mit.edu	37	chr1	205306715	205306715	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtctccaggacagtgggttGattccctgaaagtgtcaagg	9	10	13	9	1	2	2	1	2	1	0	4	3	3	3	2	3	0	1	2	3	2	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:205306715G>A	ENST00000367156.3	-	9	1681	c.865C>T	c.(865-867)Caa>Taa	p.Q289*	KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.Q155*|KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.Q289*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.Q176*|KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.Q289*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	289								p.Q289E(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACAGTGGGTTGATTCCCTGAA	0.587													45	51					0	0	0	0	A	205306715	G	A	205306715	4	1	15	1	0	0	0	0	0	1	0	0	8414	1299	45	2	191	2	KLHDC8A	1	205306715	Nonsense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	24347547	205306715	43943906	11	3170											
INTS7	25896	broad.mit.edu	37	chr1	212120048	212120048	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagaggcatgctgtgtgCtgggggaaaaaagaaactaa	14	8	14	5	0	0	2	0	0	0	2	0	3	0	3	0	3	4	4	0	3	5	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:212120048C>T	ENST00000366994.3	-	18	2421		c.e18-1		INTS7_ENST00000440600.2_Splice_Site|INTS7_ENST00000366992.3_Intron|INTS7_ENST00000469606.1_Splice_Site|INTS7_ENST00000366993.3_Splice_Site	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7						snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATGCTGTGTGCTGGGGGAAAA	0.348													3	58					0	0	0	0	T	212120048	C	T	212120048	5	4	15	1	0	0	0	0	0	0	1	0	7836	811	28	4	584	4	INTS7	1	212120048	Splice_Site	SNP	C	TCGA-BA-6868-01B-12D-1912-08	6813333	212120048	37130573	12	3171											
SPHAR	10638	broad.mit.edu	37	chr1	229440922	229440922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtatgtatctgttttagatAttttgagttttgcttttttt	7	25	7	2	0	1	2	0	1	1	1	1	2	1	2	0	0	1	5	0	0	4	12			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:229440922A>G	ENST00000366688.3	+	1	794	c.41A>G	c.(40-42)tAt>tGt	p.Y14C	RAB4A_ENST00000366690.4_3'UTR	NM_006542.3	NP_006533.1	Q15513	SPHAR_HUMAN	S-phase response (cyclin related)	14					DNA replication							Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TGTTTTAGATATTTTGAGTTT	0.299													26	32					0	0	0	0	G	229440922	A	G	229440922	3	3	15	1	0	0	0	0	1	0	0	0	15135	449	16	5	43	5	SPHAR	1	229440922	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	17320874	229440922	19809699	13	3172											
OR2G3	81469	broad.mit.edu	37	chr1	247769130	247769130	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actagccttgctcctcagacCttagttaacttgcaaagacc	11	11	6	13	0	1	2	1	0	0	2	2	2	2	2	4	0	4	3	4	0	4	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:247769130C>G	ENST00000320002.2	+	1	275	c.243C>G	c.(241-243)acC>acG	p.T81T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCCTCAGACCTTAGTTAACT	0.458													120	194					0	0	0	0	G	247769130	C	G	247769130	2	3	15	1	0	0	0	0	0	0	0	1	11070	668	24	4		4	OR2G3	1	247769130	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08	18328208	247769130	1481491	14	3173											
OR2G6	391211	broad.mit.edu	37	chr1	248684984	248684984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagctctgaaaagggatttCttctcctgggattttcagat	10	14	9	8	0	4	2	1	1	3	1	5	4	4	4	1	2	1	1	1	2	2	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:248684984C>G	ENST00000343414.4	+	1	69	c.37C>G	c.(37-39)Ctt>Gtt	p.L13V		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAGGGATTTCTTCTCCTGGG	0.423													44	75					0	0	0	0	G	248684984	C	G	248684984	3	3	15	1	0	0	0	0	1	0	0	0	11071	913	32	2	39	2	OR2G6	1	248684984	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	915854	248684984	565637	15	3174											
SH3BP5L	80851	broad.mit.edu	37	chr1	249107242	249107242	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtaggggcggctcttgccGatggccctccggagggtctt	5	9	16	11	3	2	0	0	0	2	0	3	2	3	1	3	6	1	2	3	6	2	3			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:249107242G>A	ENST00000366472.5	-	6	1886	c.657C>T	c.(655-657)atC>atT	p.I219I	SH3BP5L_ENST00000411742.2_Silent_p.I187I|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	219								p.I219I(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCTCTTGCCGATGGCCCTCC	0.652													25	43					0	0	0	0	A	249107242	G	A	249107242	2	1	15	1	0	0	0	0	0	0	0	1	14335	1048	37	1		1	SH3BP5L	1	249107242	Silent	SNP	G	TCGA-BA-6868-01B-12D-1912-08	422258	249107242	143379	16	3175											
TTC27	55622	broad.mit.edu	37	chr2	32927945	32927945	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccggacaaaacttgagaaAggaagtactcgccgagtgga	14	6	12	9	3	0	1	0	1	0	1	2	6	1	4	2	3	2	1	2	3	5	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:32927945A>G	ENST00000317907.4	+	10	1422	c.1191A>G	c.(1189-1191)aaA>aaG	p.K397K		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	397							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AACTTGAGAAAGGAAGTACTC	0.438													50	102					0	0	0	0	G	32927945	A	G	32927945	2	3	15	1	0	0	0	0	0	0	0	1	16791	69	3	5		5	TTC27	2	32927945	Silent	SNP	A	TCGA-BA-6868-01B-12D-1912-08		32927945	210271428	17	3176											
CEBPZ	10153	broad.mit.edu	37	chr2	37455847	37455847	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaattcaaagatgttctgTttatctttctttactttcgg	11	19	5	6	1	4	1	1	0	3	1	5	1	4	1	0	1	1	2	0	1	5	8			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:37455847T>C	ENST00000234170.5	-	2	634	c.489A>G	c.(487-489)aaA>aaG	p.K163K		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	163					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AGATGTTCTGTTTATCTTTCT	0.373													50	70					0	0	0	0	C	37455847	T	C	37455847	2	2	15	1	0	0	0	0	0	0	0	1	3233	1722	60	5		5	CEBPZ	2	37455847	Silent	SNP	T	TCGA-BA-6868-01B-12D-1912-08	4527902	37455847	205743526	18	3177											
ABCG8	64241	broad.mit.edu	37	chr2	44079515	44079515	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacgtgatcgcggagcTgcggcttaggcagtgcgctg	6	7	19	9	5	0	1	0	1	0	0	1	4	0	4	0	5	3	4	0	5	1	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:44079515T>C	ENST00000272286.2	+	5	674	c.584T>C	c.(583-585)cTg>cCg	p.L195P		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	195	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATCGCGGAGCTGCGGCTTAGG	0.637													24	31					0	0	0	0	C	44079515	T	C	44079515	3	2	15	1	0	0	0	0	1	0	0	0	72	1580	55	5	602	5	ABCG8	2	44079515	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08	6623668	44079515	199119858	19	3178											
ANKRD36B	57730	broad.mit.edu	37	chr2	98165918	98165918	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcctttttttctctggCtatattcaaaacagaatctt	10	18	3	10	0	3	1	1	0	2	1	6	1	5	1	2	1	1	1	2	1	5	7			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:98165918C>G	ENST00000443455.1	-	0	1551							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TTTTCTCTGGCTATATTCAAA	0.308													3	36					0	0	0	0	G	98165918	C	G	98165918	1	3	15	0	1	0	0	0	0	0	0	0	665	797	28	4		4	ANKRD36B	2	98165918	RNA	SNP	C	TCGA-BA-6868-01B-12D-1912-08	54086403	98165918	145033455	20	3179											
MRPS9	64965	broad.mit.edu	37	chr2	105696507	105696507	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactggcaaacagtcatactAttcattaatgcatgtaagta	15	13	6	7	0	2	0	2	0	0	0	2	0	2	0	0	1	4	4	0	1	7	7			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:105696507A>T	ENST00000258455.3	+	5	586	c.476A>T	c.(475-477)tAt>tTt	p.Y159F		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	159					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CAGTCATACTATTCATTAATG	0.333													38	60					0	0	0	0	T	105696507	A	T	105696507	3	4	15	1	0	0	0	0	1	0	0	0	9919	449	16	5	494	5	MRPS9	2	105696507	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	7530589	105696507	137502866	21	3180											
LRP1B	53353	broad.mit.edu	37	chr2	141122323	141122323	+	Frame_Shift_Del	DEL	G	G	-																															gcagagagaattattgcaaaGgaactcatcagctctacata																										TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:141122323delG	ENST00000389484.3	-	72	12009	c.11038delC	c.(11038-11040)ttfs	p.L3680fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3680	LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTATTGCAAAGGAACTCATCA	0.403										TSP Lung(27;0.18)			46	112	---	---	---	---					-	141122323	G	-	141122323	7	5	15	1	0	1	0	1	0	0	0	0	9019	1000	35	0	2841	0	LRP1B	2	141122323	Frame_Shift_Del	DEL	G	TCGA-BA-6868-01B-12D-1912-08	35425816	141122323	102077050	22	3181											
LRP1B	53353	broad.mit.edu	37	chr2	141128783	141128783	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcacaatcatattctccatTacatttcaaagatgctgaaa	16	12	4	9	0	3	2	2	1	1	1	4	2	3	2	1	0	3	2	1	0	5	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:141128783T>A	ENST00000389484.3	-	70	11811	c.10840A>T	c.(10840-10842)Aat>Tat	p.N3614Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3614	LDL-receptor class A 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATTCTCCATTACATTTCAAA	0.299										TSP Lung(27;0.18)			17	21					0	0	0	0	A	141128783	T	A	141128783	3	1	15	1	0	0	0	0	1	0	0	0	9019	1754	61	5	3047	5	LRP1B	2	141128783	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08	6460	141128783	102070590	23	3182											
TANC1	85461	broad.mit.edu	37	chr2	160053172	160053172	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgtccacagtgccctacgGggccacggtgacattctcca	7	9	10	15	2	1	1	0	1	1	0	3	1	2	1	4	3	2	0	4	3	1	3			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:160053172G>T	ENST00000263635.6	+	18	3270	c.3033G>T	c.(3031-3033)cgG>cgT	p.R1011R	TANC1_ENST00000454300.1_Silent_p.R905R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1011						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GTGCCCTACGGGGCCACGGTG	0.622													25	53					2.24059e-21	3.10062e-21	1	0	T	160053172	G	T	160053172	2	4	15	1	0	0	0	0	0	0	0	1	15635	1219	43	4		4	TANC1	2	160053172	Silent	SNP	G	TCGA-BA-6868-01B-12D-1912-08	18924389	160053172	83146201	24	3183											
WDSUB1	151525	broad.mit.edu	37	chr2	160139519	160139519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagtagccaagagggaaaagGagaaggcacagcagttgaca	18	3	14	6	0	0	3	0	1	0	2	0	5	0	4	1	3	2	4	1	3	6	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:160139519G>C	ENST00000409990.3	-	2	318	c.62C>G	c.(61-63)tCc>tGc	p.S21C	WDSUB1_ENST00000409124.1_Missense_Mutation_p.S21C|WDSUB1_ENST00000392796.3_Missense_Mutation_p.S21C|WDSUB1_ENST00000359774.4_Missense_Mutation_p.S21C|WDSUB1_ENST00000358147.4_Missense_Mutation_p.S21C	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	21						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GAGGGAAAAGGAGAAGGCACA	0.413													38	42					0	0	0	0	C	160139519	G	C	160139519	3	2	15	1	0	0	0	0	1	0	0	0	17437	1174	41	2	1408	2	WDSUB1	2	160139519	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	86347	160139519	83059854	25	3184											
LRP2	4036	broad.mit.edu	37	chr2	170129520	170129520	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatcattatctgttctgTggctgaggacacagacctgc	10	11	9	11	0	3	2	1	1	2	1	3	3	3	3	2	2	2	2	2	2	2	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:170129520T>C	ENST00000263816.3	-	15	2318	c.2033A>G	c.(2032-2034)cAc>cGc	p.H678R	LRP2_ENST00000443831.1_Missense_Mutation_p.H609R	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	678	EGF-like 3.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCTGTTCTGTGGCTGAGGAC	0.453													57	100					0	0	0	0	C	170129520	T	C	170129520	3	2	15	1	0	0	0	0	1	0	0	0	9020	1696	59	5	12194	5	LRP2	2	170129520	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08	9990001	170129520	73069853	26	3185											
FASTKD1	79675	broad.mit.edu	37	chr2	170428349	170428349	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacatcccacttgcttttctGaaagtatggctttgtttctt	7	18	6	10	0	2	1	0	1	2	0	3	1	3	1	1	1	1	4	1	1	2	7			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:170428349G>C	ENST00000453153.2	-	2	537	c.191C>G	c.(190-192)tCa>tGa	p.S64*	FASTKD1_ENST00000453929.2_Nonsense_Mutation_p.S64*	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	64					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TTGCTTTTCTGAAAGTATGGC	0.378													30	46					0	0	0	0	C	170428349	G	C	170428349	4	2	15	1	0	0	0	0	0	1	0	0	5730	1294	45	2	2408	2	FASTKD1	2	170428349	Nonsense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	298829	170428349	72771024	27	3186											
COL4A4	1286	broad.mit.edu	37	chr2	227924929	227924929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgaaccactcagcccagggGcaccttggggacctggaaat	10	6	12	13	0	1	1	1	1	0	0	1	3	1	3	4	5	2	1	4	5	2	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:227924929G>T	ENST00000396625.3	-	27	2294	c.2087C>A	c.(2086-2088)gCc>gAc	p.A696D	COL4A4_ENST00000329662.7_Missense_Mutation_p.A696D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	696	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAGCCCAGGGGCACCTTGGGG	0.428													36	88					2.09667e-21	2.91617e-21	1	0	T	227924929	G	T	227924929	3	4	15	1	0	0	0	0	1	0	0	0	3723	1203	42	4	3073	4	COL4A4	2	227924929	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	57496580	227924929	15274444	28	3187											
DIS3L2	129563	broad.mit.edu	37	chr2	233075076	233075076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacccatcaaccgcccgaGacctcgatgatgccctctcc	8	8	7	18	3	2	3	1	2	1	1	4	5	2	3	6	0	2	0	6	0	1	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:233075076G>T	ENST00000325385.7	+	10	1441	c.1165G>T	c.(1165-1167)Gac>Tac	p.D389Y	DIS3L2_ENST00000409307.1_Missense_Mutation_p.D389Y|DIS3L2_ENST00000273009.6_Missense_Mutation_p.D389Y	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	389							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AACCGCCCGAGACCTCGATGA	0.478													16	75					6.49762e-13	8.72719e-13	1	0	T	233075076	G	T	233075076	3	4	15	1	0	0	0	0	1	0	0	0	4574	942	33	2	1199	2	DIS3L2	2	233075076	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	5150147	233075076	10124297	29	3188											
OGG1	4968	broad.mit.edu	37	chr3	9798304	9798304	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccagaccaacaaggaactGggtgaggaaagtgggctgca	13	4	14	10	0	0	2	0	1	0	1	0	4	0	4	3	4	3	2	3	4	4	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr3:9798304G>A	ENST00000302036.7	+	5	1240	c.898_splice	c.e5+1	p.L299_splice	OGG1_ENST00000302003.7_Splice_Site_p.L299_splice|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000339511.5_Splice_Site_p.L299_splice|OGG1_ENST00000344629.7_Splice_Site_p.L299_splice|OGG1_ENST00000449570.2_Splice_Site_p.L299_splice|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Splice_Site_p.L299_splice	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	299					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ACAAGGAACTGGGTGAGGAAA	0.582								Base excision repair (BER), DNA glycosylases					27	8					0	0	0	0	A	9798304	G	A	9798304	5	1	15	1	0	0	0	0	0	0	1	0	10916	1362	47	4	915	4	OGG1	3	9798304	Splice_Site	SNP	G	TCGA-BA-6868-01B-12D-1912-08		9798304	188224126	30	3189											
IMPDH2	3615	broad.mit.edu	37	chr3	49064207	49064207	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaatggctgccccacacagCagctgtttcttggcatcttt	7	12	8	14	0	2	0	0	0	2	0	2	0	2	0	3	2	3	5	3	2	1	3			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr3:49064207C>T	ENST00000326739.4	-	7	771	c.732G>A	c.(730-732)ctG>ctA	p.L244L		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	244					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CCCCACACAGCAGCTGTTTCT	0.517													113	40					0	0	0	0	T	49064207	C	T	49064207	2	4	15	1	0	0	0	0	0	0	0	1	7780	697	25	4		4	IMPDH2	3	49064207	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08	39265903	49064207	148958223	31	3190											
EPHA6	285220	broad.mit.edu	37	chr3	97202882	97202882	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgatccctcaagaattcgtAttgagagagtcattggggca	11	12	11	7	1	2	4	2	2	0	2	4	5	3	4	1	2	0	2	1	2	3	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr3:97202882A>T	ENST00000389672.5	+	10	2217	c.2179A>T	c.(2179-2181)Att>Ttt	p.I727F	EPHA6_ENST00000502694.1_Missense_Mutation_p.I119F|EPHA6_ENST00000442602.2_Missense_Mutation_p.I93F|EPHA6_ENST00000514100.1_Missense_Mutation_p.I119F	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	632	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AAGAATTCGTATTGAGAGAGT	0.358													21	20					0	0	0	0	T	97202882	A	T	97202882	3	4	15	1	0	0	0	0	1	0	0	0	5209	449	16	5	2285	5	EPHA6	3	97202882	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	48138675	97202882	100819548	32	3191											
POLQ	10721	broad.mit.edu	37	chr3	121202255	121202255	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggatcttcataactttgcTccaaggagatgccacaagaa	14	10	8	9	0	2	2	1	0	1	2	3	4	3	3	2	2	3	1	2	2	5	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr3:121202255T>A	ENST00000264233.5	-	18	6076	c.5948A>T	c.(5947-5949)gAg>gTg	p.E1983V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1983					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATAACTTTGCTCCAAGGAGAT	0.303								DNA polymerases (catalytic subunits)					27	30					0	0	0	0	A	121202255	T	A	121202255	3	1	15	1	0	0	0	0	1	0	0	0	12280	1551	54	5	1876	5	POLQ	3	121202255	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08	23999373	121202255	76820175	33	3192											
PIK3R4	30849	broad.mit.edu	37	chr3	130452572	130452572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagagtcattgctgaaatGcaaaagatatggagtaatac	18	9	9	5	0	1	3	1	1	0	2	1	4	1	4	0	1	4	3	0	1	7	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr3:130452572G>A	ENST00000356763.3	-	4	1827	c.1270C>T	c.(1270-1272)Cat>Tat	p.H424Y		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	424					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						TTGCTGAAATGCAAAAGATAT	0.413													43	45					0	0	0	0	A	130452572	G	A	130452572	3	1	15	1	0	0	0	0	1	0	0	0	11993	1319	46	4	2874	4	PIK3R4	3	130452572	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	9250317	130452572	67569858	34	3193											
PPP2R3A	5523	broad.mit.edu	37	chr3	135863925	135863925	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaacctgcctctccctctGaatttggaaacaaaagcaat	14	10	6	11	0	2	2	0	2	2	0	3	3	2	3	3	1	4	1	3	1	6	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr3:135863925G>C	ENST00000264977.3	+	14	3987	c.3370G>C	c.(3370-3372)Gaa>Caa	p.E1124Q	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E503Q|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E388Q	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1124					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTCTCCCTCTGAATTTGGAAA	0.358													3	44					0	0	0	0	C	135863925	G	C	135863925	3	2	15	1	0	0	0	0	1	0	0	0	12464	1291	45	2	3556	2	PPP2R3A	3	135863925	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	5411353	135863925	62158505	35	3194											
XRN1	54464	broad.mit.edu	37	chr3	142048418	142048418	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatagactgaacattaTggtactcattagcactgtga	12	13	8	8	0	1	3	1	2	0	1	2	3	2	3	1	1	3	2	1	1	5	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr3:142048418T>C	ENST00000264951.4	-	37	4376	c.4259A>G	c.(4258-4260)cAt>cGt	p.H1420R	XRN1_ENST00000392981.2_Missense_Mutation_p.H1421R	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1420					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTGAACATTATGGTACTCATT	0.383													26	26					0	0	0	0	C	142048418	T	C	142048418	3	2	15	1	0	0	0	0	1	0	0	0	17555	1464	51	5	885	5	XRN1	3	142048418	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08	6184493	142048418	55974012	36	3195											
SPATA18	132671	broad.mit.edu	37	chr4	52943055	52943055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggagaccgtccccaaaccGctccaagctgtccaatgtgg	10	6	10	15	2	0	1	0	0	0	1	3	2	3	1	6	2	2	2	6	2	3	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:52943055G>T	ENST00000295213.4	+	7	1243	c.869G>T	c.(868-870)cGc>cTc	p.R290L	SPATA18_ENST00000419395.2_Missense_Mutation_p.R258L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	290	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCCCCAAACCGCTCCAAGCTG	0.682													15	28					0.000566183	0.000711625	1	0	T	52943055	G	T	52943055	3	4	15	1	0	0	0	0	1	0	0	0	15093	1087	38	3	895	3	SPATA18	4	52943055	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08		52943055	138211221	37	3196											
PRDM8	56978	broad.mit.edu	37	chr4	81123531	81123531	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctgagtcccgacggcatCgccacgggcggcggcaaagg	8	3	17	13	6	0	1	0	1	0	0	2	3	1	1	2	5	1	3	2	5	1	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:81123531C>T	ENST00000339711.4	+	10	2146	c.915C>T	c.(913-915)atC>atT	p.I305I	PRDM8_ENST00000504452.1_Silent_p.I305I|PRDM8_ENST00000415738.2_Silent_p.I305I	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	305	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCGACGGCATCGCCACGGGCG	0.746											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	5					0	0	0	0	T	81123531	C	T	81123531	2	4	15	1	0	0	0	0	0	0	0	1	12542	874	31	1		1	PRDM8	4	81123531	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08	28180476	81123531	110030745	38	3197											
FGF5	2250	broad.mit.edu	37	chr4	81188009	81188009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcctcctcctcctcttcTtcagccacctgatcctcagc	4	13	3	21	0	4	1	2	1	2	0	9	1	9	1	8	0	2	0	8	0	0	3			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:81188009T>C	ENST00000456523.3	+	1	217	c.31T>C	c.(31-33)Ttc>Ctc	p.F11L	FGF5_ENST00000312465.7_Missense_Mutation_p.F11L	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	11					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CCTCCTCTTCTTCAGCCACCT	0.622													32	42					0	0	0	0	C	81188009	T	C	81188009	3	2	15	1	0	0	0	0	1	0	0	0	5900	1609	56	5	33	5	FGF5	4	81188009	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08	64478	81188009	109966267	39	3198											
C4orf36	132989	broad.mit.edu	37	chr4	87809368	87809368	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttccaagaaaggcaacttGatattggctaggtttgtgga	11	13	11	6	0	1	2	0	1	1	1	2	3	2	3	1	4	1	3	1	4	5	6			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:87809368G>C	ENST00000473559.1	-	6	789	c.126C>G	c.(124-126)atC>atG	p.I42M	C4orf36_ENST00000503001.1_5'UTR|C4orf36_ENST00000295898.3_Missense_Mutation_p.I42M			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	42										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		AAGGCAACTTGATATTGGCTA	0.398													24	29					0	0	0	0	C	87809368	G	C	87809368	3	2	15	1	0	0	0	0	1	0	0	0	2287	1280	45	2	235	2	C4orf36	4	87809368	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	6621359	87809368	103344908	40	3199											
MAML3	55534	broad.mit.edu	37	chr4	140811147	140811147	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgctgtttctgctgcatGagtttggccctttgttgctg	2	19	12	8	0	1	1	0	1	1	0	1	1	1	1	1	1	4	8	1	1	0	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:140811147G>A	ENST00000509479.2	-	2	2299	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L	MAML3_ENST00000327122.5_Silent_p.L325L|MAML3_ENST00000398940.1_Silent_p.L20L	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	481	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					tctgctgcATGAGTTTGGCCC	0.577													13	24					0	0	0	0	A	140811147	G	A	140811147	2	1	15	1	0	0	0	0	0	0	0	1	9276	1277	45	2		2	MAML3	4	140811147	Silent	SNP	G	TCGA-BA-6868-01B-12D-1912-08	53001779	140811147	50343129	41	3200											
INPP4B	8821	broad.mit.edu	37	chr4	143094803	143094803	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttttctgaaagcatcttTaaagaattcttcaagctgtc	12	16	5	8	0	4	2	1	1	3	1	5	2	4	2	0	0	2	2	0	0	5	6			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:143094803T>G	ENST00000513000.1	-	17	1774	c.1341A>C	c.(1339-1341)ttA>ttC	p.L447F	INPP4B_ENST00000308502.4_Missense_Mutation_p.L447F|INPP4B_ENST00000262992.4_Missense_Mutation_p.L447F|INPP4B_ENST00000509777.1_Missense_Mutation_p.L447F|INPP4B_ENST00000508116.1_Missense_Mutation_p.L447F	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	447					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AAAGCATCTTTAAAGAATTCT	0.388													26	60					0	0	0	0	G	143094803	T	G	143094803	3	3	15	1	0	0	0	0	1	0	0	0	7806	1751	61	5	1477	5	INPP4B	4	143094803	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08	2283656	143094803	48059473	42	3201											
FBXW7	55294	broad.mit.edu	37	chr4	153247297	153247297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgaacacagcggactgctGcaacatgacccatcaaaaca	16	6	7	12	1	1	2	1	2	0	0	1	3	1	3	1	1	6	2	1	1	4	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:153247297G>A	ENST00000281708.4	-	10	2734	c.1505C>T	c.(1504-1506)gCa>gTa	p.A502V	FBXW7_ENST00000263981.5_Missense_Mutation_p.A422V|FBXW7_ENST00000603548.1_Missense_Mutation_p.A502V|FBXW7_ENST00000296555.5_Missense_Mutation_p.A384V|FBXW7_ENST00000393956.3_Missense_Mutation_p.A326V|FBXW7_ENST00000603841.1_Missense_Mutation_p.A502V	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	502					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GCGGACTGCTGCAACATGACC	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								41	53					0	0	0	0	A	153247297	G	A	153247297	3	1	15	1	0	0	0	0	1	0	0	0	5814	1319	46	4	630	4	FBXW7	4	153247297	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	10152494	153247297	37906979	43	3202											
STOX2	56977	broad.mit.edu	37	chr4	184931650	184931650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccacaagctataaagaGgtgtgtattccagagatagt	13	11	10	7	1	0	2	0	0	0	2	3	3	2	2	2	1	1	2	2	1	6	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:184931650G>T	ENST00000308497.4	+	3	3094	c.1659G>T	c.(1657-1659)gaG>gaT	p.E553D	STOX2_ENST00000438269.1_Missense_Mutation_p.E553D	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	553					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCTATAAAGAGGTGTGTATTC	0.522													18	15					3.52763e-06	4.51669e-06	1	0	T	184931650	G	T	184931650	3	4	15	1	0	0	0	0	1	0	0	0	15410	991	35	4	1669	4	STOX2	4	184931650	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	31684353	184931650	6222626	44	3203											
TLR3	7098	broad.mit.edu	37	chr4	187004613	187004613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatttgaactaaagatcatCgatttaggattgaataattt	15	17	6	3	1	1	3	1	2	0	1	2	5	1	4	0	1	1	0	0	1	7	8			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:187004613C>T	ENST00000296795.2	+	4	1877	c.1773C>T	c.(1771-1773)atC>atT	p.I591I	TLR3_ENST00000504367.1_Silent_p.I314I	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	591					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TAAAGATCATCGATTTAGGAT	0.388													30	45					0	0	0	0	T	187004613	C	T	187004613	2	4	15	1	0	0	0	0	0	0	0	1	16046	874	31	1		1	TLR3	4	187004613	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08	2072963	187004613	4149663	45	3204											
TLR3	7098	broad.mit.edu	37	chr4	187006008	187006008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attgcaagtagcacttggatCcaaaaactctgtacattaaa	16	11	6	8	0	1	0	0	0	1	0	2	1	2	1	1	1	4	4	1	1	7	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:187006008C>G	ENST00000296795.2	+	5	2800	c.2696C>G	c.(2695-2697)tCc>tGc	p.S899C	TLR3_ENST00000504367.1_Missense_Mutation_p.S622C	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	899					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GCACTTGGATCCAAAAACTCT	0.328													26	26					0	0	0	0	G	187006008	C	G	187006008	3	3	15	1	0	0	0	0	1	0	0	0	16046	855	30	2	2710	2	TLR3	4	187006008	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	1395	187006008	4148268	46	3205											
ZFP42	132625	broad.mit.edu	37	chr4	188924382	188924382	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatagttggagagaattcgCttgagtattctgagtacatg	12	13	12	4	1	1	4	0	2	1	2	2	6	1	5	0	1	1	4	0	1	4	7			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:188924382C>G	ENST00000326866.4	+	4	829	c.421C>G	c.(421-423)Ctt>Gtt	p.L141V	ZFP42_ENST00000509524.1_Missense_Mutation_p.L141V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	141					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAGAATTCGCTTGAGTATTC	0.418													50	88					0	0	0	0	G	188924382	C	G	188924382	3	3	15	1	0	0	0	0	1	0	0	0	17745	797	28	4	423	4	ZFP42	4	188924382	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	1918374	188924382	2229894	47	3206											
ZDHHC11	79844	broad.mit.edu	37	chr5	837492	837492	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggtacctggagaactccTttgtccatttgcacgtatgg	7	13	12	9	1	0	1	0	0	0	1	2	2	2	1	3	4	3	3	3	4	3	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:837492T>C	ENST00000283441.8	-	6	1271	c.888A>G	c.(886-888)aaA>aaG	p.K296K	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.K296K	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	296						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGAGAACTCCTTTGTCCATTT	0.478													9	301					0	0	0	0	C	837492	T	C	837492	2	2	15	1	0	0	0	0	0	0	0	1	17696	1606	56	5		5	ZDHHC11	5	837492	Silent	SNP	T	TCGA-BA-6868-01B-12D-1912-08		837492	180077768	48	3207											
SLC45A2	51151	broad.mit.edu	37	chr5	33984637	33984637	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagtcaaaggggccatcatCagctagggatttatagatgt	13	10	12	6	0	3	2	3	0	0	2	3	3	3	3	1	3	1	1	1	3	4	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:33984637C>G	ENST00000382102.3	-	1	109	c.52G>C	c.(52-54)Gat>Cat	p.D18H	SLC45A2_ENST00000296589.4_Missense_Mutation_p.D18H|SLC45A2_ENST00000342059.3_Missense_Mutation_p.D18H|SLC45A2_ENST00000345083.5_Missense_Mutation_p.D18H|SLC45A2_ENST00000509381.1_Missense_Mutation_p.D18H	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	18					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GGGCCATCATCAGCTAGGGAT	0.582													18	58					0	0	0	0	G	33984637	C	G	33984637	3	3	15	1	0	0	0	0	1	0	0	0	14729	826	29	2	1583	2	SLC45A2	5	33984637	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	33147145	33984637	146930623	49	3208											
POLK	51426	broad.mit.edu	37	chr5	74865317	74865317	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggatcaatgagtatgctGgtaagtaaagatcaaataca	17	10	10	4	0	2	2	2	1	0	1	2	3	2	3	0	2	2	5	0	2	8	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:74865317G>T	ENST00000241436.4	+	4	580	c.408_splice	c.e4+1	p.L136_splice	POLK_ENST00000504026.1_Splice_Site_p.L136_splice|POLK_ENST00000380481.3_Splice_Site_p.L46_splice|POLK_ENST00000508526.1_Splice_Site_p.L136_splice|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000515295.1_Splice_Site_p.L136_splice|POLK_ENST00000352007.5_Splice_Site_p.L136_splice	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	136	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TGAGTATGCTGGTAAGTAAAG	0.368								DNA polymerases (catalytic subunits)					16	11					1.33834e-09	1.763e-09	1	0	T	74865317	G	T	74865317	5	4	15	1	0	0	0	0	0	0	1	0	12276	1362	47	4	418	4	POLK	5	74865317	Splice_Site	SNP	G	TCGA-BA-6868-01B-12D-1912-08	40880680	74865317	106049943	50	3209											
CMYA5	202333	broad.mit.edu	37	chr5	79033128	79033128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgactccagaaaggcataCagttcatactattcagacat	15	11	6	9	0	2	3	2	1	0	2	3	3	3	3	1	1	2	2	1	1	4	6			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:79033128C>G	ENST00000446378.2	+	2	8571	c.8540C>G	c.(8539-8541)aCa>aGa	p.T2847R		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2847						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAAGGCATACAGTTCATACT	0.423													41	25					0	0	0	0	G	79033128	C	G	79033128	3	3	15	1	0	0	0	0	1	0	0	0	3620	478	17	4	8546	4	CMYA5	5	79033128	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	4167811	79033128	101882132	51	3210											
RGMB	285704	broad.mit.edu	37	chr5	98129212	98129212	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactggagactgccaacactCaatgccatgagaagatgcca	14	6	9	12	0	1	3	1	1	0	3	1	5	1	3	3	1	4	0	3	1	3	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:98129212C>G	ENST00000308234.7	+	5	1594	c.1192C>G	c.(1192-1194)Caa>Gaa	p.Q398E	RGMB_ENST00000513185.1_Missense_Mutation_p.Q357E	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	357					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TGCCAACACTCAATGCCATGA	0.587													9	11					0	0	0	0	G	98129212	C	G	98129212	3	3	15	1	0	0	0	0	1	0	0	0	13363	827	29	2	1206	2	RGMB	5	98129212	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	19096084	98129212	82786048	52	3211											
SHROOM1	134549	broad.mit.edu	37	chr5	132161695	132161695	+	Frame_Shift_Del	DEL	G	G	-																															tctgtccccggcgactgcgtGcgcggctcggggccgccgga																										TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:132161695delG	ENST00000378679.3	-	4	942	c.138delC	c.(136-138)cgfs	p.R46fs	SHROOM1_ENST00000378676.1_Frame_Shift_Del_p.R46fs|SHROOM1_ENST00000319854.3_Frame_Shift_Del_p.R46fs	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	46					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGACTGCGTGCGCGGCTCGG	0.706													2	4	---	---	---	---					-	132161695	G	-	132161695	7	5	15	1	0	1	0	1	0	0	0	0	14381	1306	46	0	2448	0	SHROOM1	5	132161695	Frame_Shift_Del	DEL	G	TCGA-BA-6868-01B-12D-1912-08	34032483	132161695	48753565	53	3212											
PCDHB10	56126	broad.mit.edu	37	chr5	140574507	140574507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattccaccttccgaaatagCtttggatttaatattcagta	13	15	5	8	1	1	0	1	0	0	0	3	2	3	1	3	1	1	2	3	1	6	9			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:140574507C>T	ENST00000239446.4	+	1	2566	c.2382C>T	c.(2380-2382)agC>agT	p.S794S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		794					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGAAATAGCTTTGGATTTA	0.368													17	36					0	0	0	0	T	140574507	C	T	140574507	2	4	15	1	0	0	0	0	0	0	0	1	11606	796	28	4		4	PCDHB10	5	140574507	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08	8412812	140574507	40340753	54	3213											
PCDHB11	56125	broad.mit.edu	37	chr5	140580775	140580775	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggcagtgtcagcgctacAgacagagactcaggcaccaa	13	5	11	12	2	2	2	2	0	0	2	3	3	2	2	1	2	2	3	1	2	2	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:140580775A>C	ENST00000354757.3	+	1	1428	c.1428A>C	c.(1426-1428)acA>acC	p.T476T	PCDHB11_ENST00000536699.1_Silent_p.T111T	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		476	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGCGCTACAGACAGAGACT	0.617													41	207					0	0	0	0	C	140580775	A	C	140580775	2	2	15	1	0	0	0	0	0	0	0	1	11607	175	7	5		5	PCDHB11	5	140580775	Silent	SNP	A	TCGA-BA-6868-01B-12D-1912-08	6268	140580775	40334485	55	3214											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719966	140719966	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtcttctcagtgacggcCcatgaccccgacagcaacga	9	8	9	15	3	3	2	1	2	3	0	4	4	3	2	3	1	2	1	3	1	1	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:140719966C>A	ENST00000394576.2	+	1	1428	c.1428C>A	c.(1426-1428)gcC>gcA	p.A476A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGACGGCCCATGACCCCG	0.542													21	86					4.43304e-23	6.1972e-23	1	0	A	140719966	C	A	140719966	2	1	15	1	0	0	0	0	0	0	0	1	11625	610	22	4		4	PCDHGA2	5	140719966	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08	139191	140719966	40195294	56	3215											
ARAP3	64411	broad.mit.edu	37	chr5	141059694	141059694	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggacactcctggtcccccGagggctgggctcagcccagg	5	6	14	16	1	1	0	1	0	0	0	3	2	3	1	4	5	1	2	4	5	0	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:141059694G>A	ENST00000239440.4	-	2	425	c.360C>T	c.(358-360)ctC>ctT	p.L120L	ARAP3_ENST00000508305.1_Silent_p.L42L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	120	Pro-rich.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTGGTCCCCCGAGGGCTGGGC	0.652													105	41					0	0	0	0	A	141059694	G	A	141059694	2	1	15	1	0	0	0	0	0	0	0	1	842	1045	37	1		1	ARAP3	5	141059694	Silent	SNP	G	TCGA-BA-6868-01B-12D-1912-08	339728	141059694	39855566	57	3216											
HFE	3077	broad.mit.edu	37	chr6	26091716	26091716	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctggagtgggaaaggcAcaagattcgggccaggcaga	13	4	16	8	1	0	2	0	0	0	2	1	4	0	4	1	5	1	3	1	5	3	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:26091716A>G	ENST00000357618.5	+	3	637	c.515A>G	c.(514-516)cAc>cGc	p.H172R	HFE_ENST00000317896.7_Intron|HFE_ENST00000397022.3_Missense_Mutation_p.H149R|HFE_ENST00000336625.8_Intron|HFE_ENST00000349999.4_Missense_Mutation_p.H84R|HFE_ENST00000353147.5_Intron|HFE_ENST00000488199.1_Missense_Mutation_p.H84R|HFE_ENST00000461397.1_Missense_Mutation_p.H172R|HFE_ENST00000352392.4_Intron|HFE_ENST00000470149.1_Missense_Mutation_p.H172R|HFE_ENST00000309234.6_Missense_Mutation_p.H172R	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	172	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGAAAGGCACAAGATTCGG	0.597									Hemochromatosis				12	33					0	0	0	0	G	26091716	A	G	26091716	3	3	15	1	0	0	0	0	1	0	0	0	7131	159	6	5	525	5	HFE	6	26091716	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08		26091716	145023351	58	3217											
HLA-A	3105	broad.mit.edu	37	chr6	29911958	29911959	+	Frame_Shift_Ins	INS	-	-	GC																															ccatgaggccaccctgaggtINSgctgggccctgggcttctac																										TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:29911958_29911959insGC	ENST00000396634.1	+	6	1020_1021	c.679_680insGC	c.(679-681)ctgfs	p.L227fs	HLA-A_ENST00000376806.5_Frame_Shift_Ins_p.L227fs|HLA-A_ENST00000376802.2_Frame_Shift_Ins_p.L227fs|HLA-A_ENST00000376809.5_Frame_Shift_Ins_p.L227fs			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	227	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CACCCTGAGGTGCTGGGCCCTG	0.604									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			37	120	---	---	---	---					GC	29911959	-	GC	29911958	7	5	15	1	0	1	1	0	0	0	0	0	7245	1696	59	0	693	0	HLA-A	6	29911958	Frame_Shift_Ins	INS	-	TCGA-BA-6868-01B-12D-1912-08	3820242	29911958	141203109	59	3218											
RGL2	5863	broad.mit.edu	37	chr6	33264552	33264552	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtgggggaggcatagggAcctggagaacacagagagat	14	4	17	6	1	0	3	0	0	0	3	0	7	0	5	1	5	2	1	1	5	3	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:33264552A>C	ENST00000497454.1	-	4	737	c.240_splice	c.e4-1	p.V81_splice	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_5'UTR|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	81					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						AGGCATAGGGACCTGGAGAAC	0.562													21	31					0	0	0	0	C	33264552	A	C	33264552	5	2	15	1	0	0	0	0	0	0	1	0	13359	289	10	5	2151	5	RGL2	6	33264552	Splice_Site	SNP	A	TCGA-BA-6868-01B-12D-1912-08	3352594	33264552	137850515	60	3219											
MRPS10	55173	broad.mit.edu	37	chr6	42179587	42179587	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataactgtccaatacagcCttatcgtgacctttcaccaa	12	12	4	13	1	2	1	2	1	0	0	4	1	3	1	4	0	3	0	4	0	5	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:42179587C>G	ENST00000053468.3	-	4	270	c.255G>C	c.(253-255)aaG>aaC	p.K85N		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	85					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			CCAATACAGCCTTATCGTGAC	0.388													11	31					0	0	0	0	G	42179587	C	G	42179587	3	3	15	1	0	0	0	0	1	0	0	0	9891	680	24	4	366	4	MRPS10	6	42179587	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	8915035	42179587	128935480	61	3220											
TDRD6	221400	broad.mit.edu	37	chr6	46658086	46658086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaactagttgtgcaggaaAaagtgaaaagagcatctgtt	15	10	11	5	0	1	3	0	2	1	1	1	4	1	4	0	1	3	4	0	1	6	3			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:46658086A>G	ENST00000544460.1	+	1	2475	c.2221A>G	c.(2221-2223)Aaa>Gaa	p.K741E	TDRD6_ENST00000316081.6_Missense_Mutation_p.K741E	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	741					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGTGCAGGAAAAAGTGAAAAG	0.393													10	12					0	0	0	0	G	46658086	A	G	46658086	3	3	15	1	0	0	0	0	1	0	0	0	15828	15	1	5	2223	5	TDRD6	6	46658086	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	4478499	46658086	124456981	62	3221											
TFAP2B	7021	broad.mit.edu	37	chr6	50791426	50791426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccagcctcgggccgccttgCcccagctctcgggccttgac	3	7	11	20	3	1	1	0	1	1	0	3	1	1	1	7	2	3	1	7	2	0	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:50791426C>A	ENST00000263046.4	+	3	581	c.415C>A	c.(415-417)Ccc>Acc	p.P139T	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Missense_Mutation_p.P130T			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	130					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GGCCGCCTTGCCCCAGCTCTC	0.721													7	5					0.00307968	0.00385311	1	0	A	50791426	C	A	50791426	3	1	15	1	0	0	0	0	1	0	0	0	15882	739	26	4	394	4	TFAP2B	6	50791426	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	4133340	50791426	120323641	63	3222											
LYRM2	57226	broad.mit.edu	37	chr6	90347471	90347471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgttctcacctcttcggtgGcacttttgtttcttctgaat	4	20	7	10	1	4	1	1	1	4	0	6	1	4	1	1	2	0	3	1	2	1	7			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:90347471G>A	ENST00000523377.1	-	2	212	c.176C>T	c.(175-177)gCc>gTc	p.A59V	LYRM2_ENST00000520441.1_Missense_Mutation_p.A59V|LYRM2_ENST00000520318.1_Missense_Mutation_p.A59V|LYRM2_ENST00000517396.1_5'UTR	NM_020466.4	NP_065199.1	Q9NU23	LYRM2_HUMAN	LYR motif containing 2	59										kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)		CTCTTCGGTGGCACTTTTGTT	0.363													5	221					0	0	0	0	A	90347471	G	A	90347471	3	1	15	1	0	0	0	0	1	0	0	0	9185	1203	42	4	98	4	LYRM2	6	90347471	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	39556045	90347471	80767596	64	3223											
MDN1	23195	broad.mit.edu	37	chr6	90409446	90409446	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgttgatttttgctgcaTctgttccaaaaataaagagg	11	15	10	5	0	1	2	0	1	1	1	2	2	2	2	1	2	2	5	1	2	4	6			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:90409446T>A	ENST00000369393.3	-	58	8986	c.8870_splice	c.e58-1	p.R2957_splice	MDN1_ENST00000428876.1_Splice_Site_p.R2957_splice			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2957					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTTGCTGCATCTGTTCCAAA	0.408													31	38					0	0	0	0	A	90409446	T	A	90409446	5	1	15	1	0	0	0	0	0	0	1	0	9484	1449	50	5	8099	5	MDN1	6	90409446	Splice_Site	SNP	T	TCGA-BA-6868-01B-12D-1912-08	61975	90409446	80705621	65	3224											
BCLAF1	9774	broad.mit.edu	37	chr6	136597187	136597187	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctcaggtgactgagtttcTttctttactgttattctttc	5	21	7	8	0	4	2	1	2	3	0	5	2	4	2	0	1	2	3	0	1	2	7			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:136597187T>C	ENST00000531224.1	-	5	1728	c.1476A>G	c.(1474-1476)aaA>aaG	p.K492K	BCLAF1_ENST00000527536.1_Silent_p.K492K|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Silent_p.K490K|BCLAF1_ENST00000527759.1_Silent_p.K490K|BCLAF1_ENST00000392348.2_Silent_p.K490K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	492					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.K492K(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACTGAGTTTCTTTCTTTACTG	0.378													31	201					0	0	0	0	C	136597187	T	C	136597187	2	2	15	1	0	0	0	0	0	0	0	1	1387	1606	56	5		5	BCLAF1	6	136597187	Silent	SNP	T	TCGA-BA-6868-01B-12D-1912-08	46187741	136597187	34517880	66	3225											
PLEKHG1	57480	broad.mit.edu	37	chr6	151162005	151162006	+	Frame_Shift_Del	DEL	GT	GT	-																															tctctaagggaaaaatttcaGtgtctcagttcaagcagctt																										TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:151162005_151162006delGT	ENST00000367328.1	+	17	4443_4444	c.4131_4132delGT	c.(4129-4134)cagtfs	p.QC1377fs	PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.QC1377fs	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1377			Q -> P (in dbSNP:rs58786678).		regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AAAAATTTCAGTGTCTCAGTTC	0.366													13	94	---	---	---	---					-	151162006	GT	-	151162005	7	5	15	1	0	1	0	1	0	0	0	0	12140	1020	36	0	4189	0	PLEKHG1	6	151162005	Frame_Shift_Del	DEL	GT	TCGA-BA-6868-01B-12D-1912-08	14564818	151162005	19953062	67	3226											
ARID1B	57492	broad.mit.edu	37	chr6	157522507	157522507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccacatcccaggtcacCgggccaccaccccaaccacc	9	3	6	23	1	1	0	1	0	0	0	3	0	3	0	10	2	1	0	10	2	1	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:157522507C>T	ENST00000346085.5	+	18	4780	c.4779C>T	c.(4777-4779)acC>acT	p.T1593T	ARID1B_ENST00000367148.1_Silent_p.T1633T|ARID1B_ENST00000350026.5_Silent_p.T1580T|ARID1B_ENST00000275248.4_Silent_p.T1575T	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1580	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCCAGGTCACCGGGCCACCAC	0.547													45	130					0	0	0	0	T	157522507	C	T	157522507	2	4	15	1	0	0	0	0	0	0	0	1	916	639	23	1		1	ARID1B	6	157522507	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08	6360502	157522507	13592560	68	3227											
CDK13	8621	broad.mit.edu	37	chr7	40027286	40027286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattgtctagatccagaagtCgtcattctagtatttctcct	9	16	7	9	1	4	2	1	0	3	2	7	3	5	2	2	0	0	1	2	0	4	6			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr7:40027286C>T	ENST00000181839.4	+	2	1905	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	CDK13_ENST00000340829.5_Missense_Mutation_p.R434C	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	434					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ATCCAGAAGTCGTCATTCTAG	0.463													25	33					0	0	0	0	T	40027286	C	T	40027286	3	4	15	1	0	0	0	0	1	0	0	0	3158	884	31	1	1306	1	CDK13	7	40027286	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08		40027286	119111377	69	3228											
STEAP2	261729	broad.mit.edu	37	chr7	89859238	89859238	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaagtttggagaattgAaatgtatatctcctttggca	13	13	11	4	0	1	3	0	1	1	2	2	5	1	4	1	3	0	3	1	3	6	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr7:89859238A>G	ENST00000287908.3	+	4	1466	c.1073A>G	c.(1072-1074)gAa>gGa	p.E358G	STEAP2_ENST00000394632.1_Missense_Mutation_p.E358G|STEAP2_ENST00000394622.2_Missense_Mutation_p.E358G|STEAP2_ENST00000394629.2_Missense_Mutation_p.E358G|STEAP2_ENST00000394626.1_Missense_Mutation_p.E358G|STEAP2_ENST00000394621.2_Missense_Mutation_p.E358G|STEAP2_ENST00000402625.2_Missense_Mutation_p.E358G	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	358	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TGGAGAATTGAAATGTATATC	0.373													3	126					0	0	0	0	G	89859238	A	G	89859238	3	3	15	1	0	0	0	0	1	0	0	0	15368	246	9	5	1083	5	STEAP2	7	89859238	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	49831952	89859238	69279425	70	3229											
ZAN	7455	broad.mit.edu	37	chr7	100348484	100348484	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactggcagaacacctccGtcaccgtcccctcaggacac	9	7	7	18	2	2	1	2	0	0	1	4	2	4	2	5	2	2	1	5	2	2	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr7:100348484G>A	ENST00000542585.1	+	0	1634				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAACACCTCCGTCACCGTCCC	0.632													13	64					0	0	0	0	A	100348484	G	A	100348484	1	1	15	0	1	0	0	0	0	0	0	0	17609	1145	40	1		1	ZAN	7	100348484	RNA	SNP	G	TCGA-BA-6868-01B-12D-1912-08	10489246	100348484	58790179	71	3230											
PRKDC	5591	broad.mit.edu	37	chr8	48697813	48697813	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaatgtcgttgaagtcactGagcttcattctcagtagttt	9	16	9	7	1	3	2	3	2	1	0	5	2	3	2	0	0	1	5	0	0	3	6			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:48697813G>A	ENST00000314191.2	-	78	11021	c.10965C>T	c.(10963-10965)ctC>ctT	p.L3655L	PRKDC_ENST00000338368.3_Silent_p.L3655L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3656					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGAAGTCACTGAGCTTCATTC	0.363								Non-homologous end-joining					12	33					0	0	0	0	A	48697813	G	A	48697813	2	1	15	1	0	0	0	0	0	0	0	1	12601	1277	45	2		2	PRKDC	8	48697813	Silent	SNP	G	TCGA-BA-6868-01B-12D-1912-08		48697813	97666209	72	3231											
KCNB2	9312	broad.mit.edu	37	chr8	73480238	73480238	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaacgagtatttctttgAtcggcatccaggagccttca	10	11	10	10	3	2	2	1	1	1	1	4	5	3	3	2	2	2	2	2	2	2	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:73480238A>G	ENST00000523207.1	+	2	857	c.269A>G	c.(268-270)gAt>gGt	p.D90G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	90					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TATTTCTTTGATCGGCATCCA	0.493													33	91					0	0	0	0	G	73480238	A	G	73480238	3	3	15	1	0	0	0	0	1	0	0	0	8066	333	12	5	271	5	KCNB2	8	73480238	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	24782425	73480238	72883784	73	3232											
JPH1	56704	broad.mit.edu	37	chr8	75233253	75233253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaccccgtagcgccccttGaaaccatgtgaccactcccc	8	6	8	19	3	0	2	0	2	0	0	1	3	1	3	8	1	2	1	8	1	2	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:75233253G>C	ENST00000342232.4	-	1	310	c.270C>G	c.(268-270)ttC>ttG	p.F90L		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	90	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AGCGCCCCTTGAAACCATGTG	0.667													9	52					0	0	0	0	C	75233253	G	C	75233253	3	2	15	1	0	0	0	0	1	0	0	0	8013	1281	45	2	1735	2	JPH1	8	75233253	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	1753015	75233253	71130769	74	3233											
ZFHX4	79776	broad.mit.edu	37	chr8	77764911	77764911	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattggaaaactttggtttTgaactggtcattcagtataa	12	17	8	4	0	2	1	2	1	0	0	2	2	2	2	0	3	2	2	0	3	6	8			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:77764911T>C	ENST00000521891.2	+	10	6202	c.5754T>C	c.(5752-5754)ttT>ttC	p.F1918F	ZFHX4_ENST00000455469.2_Silent_p.F1873F|ZFHX4_ENST00000050961.6_Silent_p.F1873F|ZFHX4_ENST00000518282.1_Silent_p.F1892F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1873						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTTGGTTTTGAACTGGTCA	0.448										HNSCC(33;0.089)			13	47					0	0	0	0	C	77764911	T	C	77764911	2	2	15	1	0	0	0	0	0	0	0	1	17730	1809	63	5		5	ZFHX4	8	77764911	Silent	SNP	T	TCGA-BA-6868-01B-12D-1912-08	2531658	77764911	68599111	75	3234											
WWP1	11059	broad.mit.edu	37	chr8	87414410	87414410	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctccaaaaccactcgcAtctgagcctgccgatgacac	11	6	7	17	2	1	2	0	2	1	0	3	3	2	2	5	0	4	2	5	0	2	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:87414410A>G	ENST00000517970.1	+	8	1009	c.702A>G	c.(700-702)gcA>gcG	p.A234A	WWP1_ENST00000341922.2_Intron|WWP1_ENST00000265428.4_Silent_p.A234A|WWP1_ENST00000349423.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	234					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AACCACTCGCATCTGAGCCTG	0.448													15	27					0	0	0	0	G	87414410	A	G	87414410	2	3	15	1	0	0	0	0	0	0	0	1	17511	204	8	5		5	WWP1	8	87414410	Silent	SNP	A	TCGA-BA-6868-01B-12D-1912-08	9649499	87414410	58949612	76	3235											
RUNX1T1	862	broad.mit.edu	37	chr8	92983007	92983007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcatgtcgtgggctttcCgctccgcctcagacacggcc	5	10	11	15	4	2	2	2	1	0	1	5	2	4	2	4	2	0	2	4	2	0	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:92983007C>T	ENST00000523629.1	-	11	1872	c.1418G>A	c.(1417-1419)cGg>cAg	p.R473Q	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R484Q|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R473Q|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R436Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	473					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)			GTGGGCTTTCCGCTCCGCCTC	0.617													27	29					0	0	0	0	T	92983007	C	T	92983007	3	4	15	1	0	0	0	0	1	0	0	0	13832	652	23	1	404	1	RUNX1T1	8	92983007	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	5568597	92983007	53381015	77	3236											
PKHD1L1	93035	broad.mit.edu	37	chr8	110416786	110416786	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttactctattttccagataCtatattgaaatcttgctgca	11	17	5	8	0	2	2	0	1	2	1	3	2	3	2	1	0	4	3	1	0	6	9			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:110416786C>G	ENST00000378402.5	+	15	1481	c.1377C>G	c.(1375-1377)taC>taG	p.Y459*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	459					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTCCAGATACTATATTGAAA	0.299										HNSCC(38;0.096)			9	16					0	0	0	0	G	110416786	C	G	110416786	4	3	15	1	0	0	0	0	0	1	0	0	12044	576	20	4	1435	4	PKHD1L1	8	110416786	Nonsense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	17433779	110416786	35947236	78	3237											
ENPP2	5168	broad.mit.edu	37	chr8	120596204	120596204	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagttctgccatcatacctGcatgctgttgaccttgttat	8	15	7	11	0	2	1	1	1	1	0	2	1	2	1	3	0	4	5	3	0	2	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:120596204G>A	ENST00000427067.2	-	16	1621	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	ENPP2_ENST00000075322.6_Nonsense_Mutation_p.Q485*|ENPP2_ENST00000522167.1_Nonsense_Mutation_p.Q124*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.Q537*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.Q485*			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	485					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATCATACCTGCATGCTGTTG	0.363													81	249					0	0	0	0	A	120596204	G	A	120596204	4	1	15	1	0	0	0	0	0	1	0	0	5168	1328	46	4	1257	4	ENPP2	8	120596204	Nonsense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	10179418	120596204	25767818	79	3238											
FAM135B	51059	broad.mit.edu	37	chr8	139160898	139160898	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatccttcaatcttcagttCttttttaaatttttctttgg	9	22	3	7	0	5	0	2	0	3	0	6	0	6	0	1	1	0	1	1	1	4	9			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:139160898C>G	ENST00000395297.1	-	14	3483	c.3313G>C	c.(3313-3315)Gaa>Caa	p.E1105Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1105										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATCTTCAGTTCTTTTTTAAAT	0.368										HNSCC(54;0.14)			10	55					0	0	0	0	G	139160898	C	G	139160898	3	3	15	1	0	0	0	0	1	0	0	0	5490	922	32	2	935	2	FAM135B	8	139160898	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	18564694	139160898	7203124	80	3239											
NAPRT1	93100	broad.mit.edu	37	chr8	144658617	144658617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcactgggctgcagcagctCggaagaccttgcggatctcc	7	8	12	14	2	2	1	1	0	1	1	4	3	2	3	2	3	4	4	2	3	1	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:144658617C>T	ENST00000449291.2	-	7	1301	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	NAPRT1_ENST00000435154.3_Missense_Mutation_p.R336Q|NAPRT1_ENST00000426292.3_Missense_Mutation_p.R336Q|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000276844.7_Missense_Mutation_p.R336Q			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	336					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGCAGCAGCTCGGAAGACCTT	0.652													18	40					0	0	0	0	T	144658617	C	T	144658617	3	4	15	1	0	0	0	0	1	0	0	0	10235	884	31	1	637	1	NAPRT1	8	144658617	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	5497719	144658617	1705405	81	3240											
KIFC2	90990	broad.mit.edu	37	chr8	145698668	145698668	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgacactccgctcaccGggaccccctgcacccctacg	7	4	8	22	4	1	0	1	0	0	0	2	2	2	1	7	1	2	3	7	1	1	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:145698668G>T	ENST00000301332.2	+	17	2729	c.2352G>T	c.(2350-2352)ccG>ccT	p.P784P	KIFC2_ENST00000301331.5_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	784	Pro-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCCGCTCACCGGGACCCCCTG	0.741													7	16					0.000157383	0.000199644	1	0	T	145698668	G	T	145698668	2	4	15	1	0	0	0	0	0	0	0	1	8364	1103	39	3		3	KIFC2	8	145698668	Silent	SNP	G	TCGA-BA-6868-01B-12D-1912-08	1040051	145698668	665354	82	3241											
KIAA1432	57589	broad.mit.edu	37	chr9	5774097	5774097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagactagcccccgggcaGaggagagcaggggctcctcc	10	3	14	14	1	0	3	0	0	0	3	2	4	2	3	4	4	3	3	4	4	2	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr9:5774097G>A	ENST00000414202.2	+	26	4314	c.4123G>A	c.(4123-4125)Gag>Aag	p.E1375K	KIAA1432_ENST00000449720.2_Missense_Mutation_p.E1259K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1296K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1375						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCCCCGGGCAGAGGAGAGCAG	0.557													19	19					0	0	0	0	A	5774097	G	A	5774097	3	1	15	1	0	0	0	0	1	0	0	0	8284	943	33	2	4058	2	KIAA1432	9	5774097	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08		5774097	135439334	83	3242											
DENND1A	57706	broad.mit.edu	37	chr9	126414381	126414381	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttaacatccacagccaCaaaatattctgtcagatttc	13	13	5	10	0	2	1	1	0	1	1	4	1	3	1	2	0	2	2	2	0	4	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr9:126414381C>G	ENST00000373624.2	-	9	730	c.529G>C	c.(529-531)Gtg>Ctg	p.V177L	DENND1A_ENST00000394219.3_Missense_Mutation_p.V145L|DENND1A_ENST00000373620.3_Missense_Mutation_p.V177L|DENND1A_ENST00000394215.2_Missense_Mutation_p.V147L|DENND1A_ENST00000373618.1_Missense_Mutation_p.V145L|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	177	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TCCACAGCCACAAAATATTCT	0.398													16	45					0	0	0	0	G	126414381	C	G	126414381	3	3	15	1	0	0	0	0	1	0	0	0	4463	478	17	4	2663	4	DENND1A	9	126414381	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	120640284	126414381	14799050	84	3243											
GTF3C4	9329	broad.mit.edu	37	chr9	135546192	135546192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggtgagcggcctggaaccGctggcttggtccgaggacca	6	6	17	12	4	0	1	0	1	0	0	1	4	1	3	4	6	2	2	4	6	1	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr9:135546192G>A	ENST00000372146.4	+	1	771	c.207G>A	c.(205-207)ccG>ccA	p.P69P	GTF3C4_ENST00000483873.2_Silent_p.P69P	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	69					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GCCTGGAACCGCTGGCTTGGT	0.706													4	4					0	0	0	0	A	135546192	G	A	135546192	2	1	15	1	0	0	0	0	0	0	0	1	6925	1074	38	1		1	GTF3C4	9	135546192	Silent	SNP	G	TCGA-BA-6868-01B-12D-1912-08	9131811	135546192	5667239	85	3244											
NOTCH1	4851	broad.mit.edu	37	chr9	139412684	139412684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgacagggttggtgtcgCagttggagccctcgttacag	7	11	14	9	2	0	1	0	1	0	0	2	2	0	2	1	3	2	4	1	3	1	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr9:139412684C>T	ENST00000277541.6	-	7	1235	c.1160G>A	c.(1159-1161)tGc>tAc	p.C387Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	387	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTGGTGTCGCAGTTGGAGCC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			9	1					0	0	0	0	T	139412684	C	T	139412684	3	4	15	1	0	0	0	0	1	0	0	0	10617	710	25	4	6619	4	NOTCH1	9	139412684	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	3866492	139412684	1800747	86	3245											
MRPL41	64975	broad.mit.edu	37	chr9	140446808	140446808	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacggccgcgcagctctTcagcgaagccgtggcgcctg	5	6	14	16	6	2	1	1	1	1	0	2	2	2	1	4	2	3	2	4	2	1	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr9:140446808T>G	ENST00000371443.5	+	2	1063	c.275T>G	c.(274-276)tTc>tGc	p.F92C		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	92					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GCGCAGCTCTTCAGCGAAGCC	0.622													13	29					0	0	0	0	G	140446808	T	G	140446808	3	3	15	1	0	0	0	0	1	0	0	0	9875	1783	62	5	277	5	MRPL41	9	140446808	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08	1034124	140446808	766623	87	3246											
PCDH15	65217	broad.mit.edu	37	chr10	55568819	55568819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcctcaaccatgggccttCttcttgcaagcacaatgttt	8	13	6	14	0	3	0	1	0	2	0	4	0	4	0	4	1	3	3	4	1	3	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr10:55568819C>G	ENST00000395445.1	-	36	5385	c.4991G>C	c.(4990-4992)aGa>aCa	p.R1664T	PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395442.1_Missense_Mutation_p.R529T|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.R598T|PCDH15_ENST00000395446.1_Missense_Mutation_p.R860T|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000414778.1_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATGGGCCTTCTTCTTGCAAG	0.463										HNSCC(58;0.16)			11	25					0	0	0	0	G	55568819	C	G	55568819	3	3	15	1	0	0	0	0	1	0	0	0	11582	913	32	2	925	2	PCDH15	10	55568819	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08		55568819	79965928	88	3247											
LCOR	84458	broad.mit.edu	37	chr10	98714920	98714920	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgggccatctggattacaGaatcatggacaacacttaat	13	11	8	9	0	2	1	1	0	1	1	2	3	2	3	1	3	2	0	1	3	4	3			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr10:98714920G>C	ENST00000540664.1	+	8	1086	c.543G>C	c.(541-543)caG>caC	p.Q181H	LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371097.4_Missense_Mutation_p.Q181H|LCOR_ENST00000371103.3_Missense_Mutation_p.Q181H|LCOR_ENST00000356016.3_Missense_Mutation_p.Q181H	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CTGGATTACAGAATCATGGAC	0.478													24	34					0	0	0	0	C	98714920	G	C	98714920	3	2	15	1	0	0	0	0	1	0	0	0	8742	933	33	2	553	2	LCOR	10	98714920	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	43146101	98714920	36819827	89	3248											
OR51G1	79324	broad.mit.edu	37	chr11	4945555	4945555	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctttggaggctgctattAagaagaattgtcatagcttt	10	15	10	6	0	2	2	1	0	1	2	2	3	2	3	0	2	2	4	0	2	5	6			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:4945555A>C	ENST00000321961.2	-	1	82	c.15T>G	c.(13-15)ctT>ctG	p.L5L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTGCTATTAAGAAGAATTG	0.438													31	12					0	0	0	0	C	4945555	A	C	4945555	2	2	15	1	0	0	0	0	0	0	0	1	11169	349	13	5		5	OR51G1	11	4945555	Silent	SNP	A	TCGA-BA-6868-01B-12D-1912-08		4945555	130060961	90	3249											
HPX	3263	broad.mit.edu	37	chr11	6453230	6453230	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccatcccggctggtgtccaGacgccagtagtgggtccctg	5	8	14	14	2	0	1	0	0	0	1	3	1	3	1	5	3	0	2	5	3	1	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:6453230G>C	ENST00000265983.3	-	8	953	c.853C>G	c.(853-855)Ctg>Gtg	p.L285V		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	285	Hemopexin-like 4.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CTGGTGTCCAGACGCCAGTAG	0.567													66	31					0	0	0	0	C	6453230	G	C	6453230	3	2	15	1	0	0	0	0	1	0	0	0	7396	933	33	2	547	2	HPX	11	6453230	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	1507675	6453230	128553286	91	3250											
GTF2H1	2965	broad.mit.edu	37	chr11	18369136	18369136	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatctattatttctcacaggGctatggcatttcctctgtgc	8	16	7	10	0	3	0	1	0	3	0	5	0	4	0	1	2	1	2	1	2	4	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:18369136G>T	ENST00000265963.4	+	8	999	c.837_splice	c.e8-1	p.G280_splice	GTF2H1_ENST00000453096.2_Splice_Site_p.G280_splice|GTF2H1_ENST00000530496.2_5'UTR|GTF2H1_ENST00000524753.4_Splice_Site_p.G76_splice|GTF2H1_ENST00000534641.1_Splice_Site_p.G164_splice	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	280					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						ttCTCACAGGGCTATGGCATT	0.348								Nucleotide excision repair (NER)					10	23					7.48243e-07	9.71652e-07	1	0	T	18369136	G	T	18369136	5	4	15	1	0	0	0	0	0	0	1	0	6910	1217	42	4	865	4	GTF2H1	11	18369136	Splice_Site	SNP	G	TCGA-BA-6868-01B-12D-1912-08	11915906	18369136	116637380	92	3251											
LRP4	4038	broad.mit.edu	37	chr11	46900527	46900527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtacagctgaatccgcttgGatttggggacctaagacaca	11	9	12	9	1	0	2	0	1	0	1	1	4	1	4	2	4	2	3	2	4	3	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:46900527G>C	ENST00000378623.1	-	22	3309	c.3067C>G	c.(3067-3069)Cca>Gca	p.P1023A		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1023					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AATCCGCTTGGATTTGGGGAC	0.537													117	125					0	0	0	0	C	46900527	G	C	46900527	3	2	15	1	0	0	0	0	1	0	0	0	9023	1174	41	2	2718	2	LRP4	11	46900527	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	28531391	46900527	88105989	93	3252											
OR5W2	390148	broad.mit.edu	37	chr11	55681486	55681486	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actaactcattgacctgtgtAtctgagcgagagagtaataa	14	11	9	7	1	2	3	1	2	1	1	2	5	2	3	1	0	2	2	1	0	4	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:55681486A>T	ENST00000344514.1	-	1	572	c.573T>A	c.(571-573)gaT>gaA	p.D191E		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGACCTGTGTATCTGAGCGAG	0.383													10	68					0	0	0	0	T	55681486	A	T	55681486	3	4	15	1	0	0	0	0	1	0	0	0	11256	446	16	5	361	5	OR5W2	11	55681486	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	8780959	55681486	79325030	94	3253											
SMTNL1	219537	broad.mit.edu	37	chr11	57310543	57310543	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaggctgaggagaaagAggccaaacctgaatctgggc	14	4	15	8	0	1	5	0	2	1	3	1	6	1	5	2	4	1	2	2	4	4	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:57310543A>T	ENST00000457912.1	+	2	482	c.482A>T	c.(481-483)gAg>gTg	p.E161V	SMTNL1_ENST00000527972.1_Missense_Mutation_p.E143V|SMTNL1_ENST00000399154.2_Missense_Mutation_p.E143V			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	143										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GAGGAGAAAGAGGCCAAACCT	0.532													4	18					0	0	0	0	T	57310543	A	T	57310543	3	4	15	1	0	0	0	0	1	0	0	0	14903	304	11	5	488	5	SMTNL1	11	57310543	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	1629057	57310543	77695973	95	3254											
C11orf84	144097	broad.mit.edu	37	chr11	63594564	63594564	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccacagttctgtcagaaTccagcaccactgtggcaggg	9	7	12	13	0	2	1	1	0	1	1	3	1	3	1	3	3	1	3	3	3	1	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:63594564T>G	ENST00000294244.4	+	6	1398	c.1099T>G	c.(1099-1101)Tcc>Gcc	p.S367A		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	367										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TCTGTCAGAATCCAGCACCAC	0.617													11	44					0	0	0	0	G	63594564	T	G	63594564	3	3	15	1	0	0	0	0	1	0	0	0	1678	1435	50	5	1121	5	C11orf84	11	63594564	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08	6284021	63594564	71411952	96	3255											
RELA	5970	broad.mit.edu	37	chr11	65425831	65425831	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgccgcagctgcatggaGacacgcacaggagcctgcag	9	3	15	14	3	0	1	0	0	0	1	0	3	0	2	3	3	4	5	3	3	0	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:65425831G>A	ENST00000525693.1	-	8	866	c.804C>T	c.(802-804)gtC>gtT	p.V268V	RELA_ENST00000308639.9_Silent_p.V265V|RELA_ENST00000406246.3_Silent_p.V268V			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	268	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GCTGCATGGAGACACGCACAG	0.627													25	43					0	0	0	0	A	65425831	G	A	65425831	2	1	15	1	0	0	0	0	0	0	0	1	13298	929	33	2		2	RELA	11	65425831	Silent	SNP	G	TCGA-BA-6868-01B-12D-1912-08	1831267	65425831	69580685	97	3256											
CATSPER1	117144	broad.mit.edu	37	chr11	65792826	65792826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactcctgtacgagaagcaGcagggccgggggcatcgtga	10	5	16	10	3	0	3	0	1	0	2	2	4	1	3	2	3	3	4	2	3	2	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:65792826G>T	ENST00000312106.5	-	1	1162	c.1025C>A	c.(1024-1026)gCt>gAt	p.A342D		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	342					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ACGAGAAGCAGCAGGGCCGGG	0.587													30	44					1.30897e-18	1.78437e-18	1	0	T	65792826	G	T	65792826	3	4	15	1	0	0	0	0	1	0	0	0	2712	971	34	4	1365	4	CATSPER1	11	65792826	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	366995	65792826	69213690	98	3257											
SHANK2	22941	broad.mit.edu	37	chr11	70333469	70333469	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggcctctcttgttgcggaAgttggcttgcgggccggcat	3	12	15	11	3	1	0	0	0	1	0	2	1	1	1	2	5	2	4	2	5	1	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:70333469A>C	ENST00000338508.4	-	32	2931	c.2932T>G	c.(2932-2934)Ttc>Gtc	p.F978V	SHANK2_ENST00000449833.2_Missense_Mutation_p.F382V|SHANK2_ENST00000423696.2_Missense_Mutation_p.F598V|SHANK2_ENST00000409161.1_Missense_Mutation_p.F381V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	598					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTGTTGCGGAAGTTGGCTTGC	0.587													51	799					0	0	0	0	C	70333469	A	C	70333469	3	2	15	1	0	0	0	0	1	0	0	0	14353	72	3	5	2628	5	SHANK2	11	70333469	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	4540643	70333469	64673047	99	3258											
ARAP1	116985	broad.mit.edu	37	chr11	72415374	72415374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgccattccccagctgtaaGaagagctgtgggggtgtgca	8	8	15	10	1	0	2	0	0	0	2	1	2	1	2	3	2	3	4	3	2	2	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:72415374G>C	ENST00000359373.5	-	14	2666	c.1815C>G	c.(1813-1815)ttC>ttG	p.F605L	ARAP1_ENST00000334211.8_Missense_Mutation_p.F360L|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000455638.2_Missense_Mutation_p.F605L|ARAP1_ENST00000426523.1_Missense_Mutation_p.F360L|ARAP1_ENST00000393605.3_Missense_Mutation_p.F365L|ARAP1_ENST00000393609.3_Missense_Mutation_p.F605L			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	605	Arf-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCAGCTGTAAGAAGAGCTGTG	0.667													11	56					0	0	0	0	C	72415374	G	C	72415374	3	2	15	1	0	0	0	0	1	0	0	0	840	933	33	2	2625	2	ARAP1	11	72415374	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	2081905	72415374	62591142	100	3259											
PCF11	51585	broad.mit.edu	37	chr11	82878338	82878338	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcttgcaagcaaaagagaAttacttcaaaaggtagttac	17	10	7	7	0	2	1	1	0	1	1	2	2	2	1	0	1	4	4	0	1	9	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:82878338A>G	ENST00000298281.4	+	6	2441	c.1989A>G	c.(1987-1989)gaA>gaG	p.E663E		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	663					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GCAAAAGAGAATTACTTCAAA	0.313													12	35					0	0	0	0	G	82878338	A	G	82878338	2	3	15	1	0	0	0	0	0	0	0	1	11644	98	4	5		5	PCF11	11	82878338	Silent	SNP	A	TCGA-BA-6868-01B-12D-1912-08	10462964	82878338	52128178	101	3260											
PICALM	8301	broad.mit.edu	37	chr11	85718613	85718613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctggtatatcacctctgTcaattccaacttgctgtaag	9	14	8	10	0	4	0	2	0	2	0	5	0	5	0	2	2	2	3	2	2	5	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:85718613T>C	ENST00000526033.1	-	8	1095	c.779A>G	c.(778-780)gAc>gGc	p.D260G	PICALM_ENST00000528398.1_Missense_Mutation_p.D209G|PICALM_ENST00000356360.5_Missense_Mutation_p.D260G|PICALM_ENST00000532317.1_Missense_Mutation_p.D260G|PICALM_ENST00000393346.3_Missense_Mutation_p.D260G	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	260					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				ATCACCTCTGTCAATTCCAAC	0.289			T	"MLLT10, MLL"	"TALL, AML, "								3	96					0	0	0	0	C	85718613	T	C	85718613	3	2	15	1	0	0	0	0	1	0	0	0	11952	1667	58	5	1259	5	PICALM	11	85718613	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08	2840275	85718613	49287903	102	3261											
TAF1D	79101	broad.mit.edu	37	chr11	93472441	93472441	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagcatcagatgtcacatgGtcaagagaatctattcctga	14	10	8	9	0	4	3	3	1	1	2	5	4	5	3	1	1	1	1	1	1	3	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:93472441G>C	ENST00000448108.2	-	2	680	c.30C>G	c.(28-30)gaC>gaG	p.D10E		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						ATGTCACATGGTCAAGAGAAT	0.308													14	69					0	0	0	0	C	93472441	G	C	93472441	3	2	15	1	0	0	0	0	1	0	0	0	15613	1252	44	4	826	4	TAF1D	11	93472441	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	7753828	93472441	41534075	103	3262											
CNTN5	53942	broad.mit.edu	37	chr11	99715973	99715973	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggggagtattcttagtagaGaagctacactgcagtttgcc	10	12	12	7	0	1	1	0	0	1	1	1	3	1	2	1	2	4	5	1	2	5	6			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:99715973G>C	ENST00000524871.1	+	6	846	c.556G>C	c.(556-558)Gaa>Caa	p.E186Q	CNTN5_ENST00000279463.3_Missense_Mutation_p.E186Q|CNTN5_ENST00000527185.1_Missense_Mutation_p.E186Q|CNTN5_ENST00000528682.1_Missense_Mutation_p.E186Q|CNTN5_ENST00000418526.2_Missense_Mutation_p.E112Q	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	186	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTTAGTAGAGAAGCTACACT	0.338													38	362					0	0	0	0	C	99715973	G	C	99715973	3	2	15	1	0	0	0	0	1	0	0	0	3674	943	33	2	570	2	CNTN5	11	99715973	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	6243532	99715973	35290543	104	3263											
PGR	5241	broad.mit.edu	37	chr11	100933383	100933383	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaaagtgaatctctggctTagggcttggctttcatttgg	9	14	12	6	0	2	1	1	1	1	0	3	2	2	1	0	4	0	3	0	4	4	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:100933383T>G	ENST00000325455.5	-	4	3460	c.2007A>C	c.(2005-2007)ctA>ctC	p.L669L	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Silent_p.L75L	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	669					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	ATCTCTGGCTTAGGGCTTGGC	0.443													7	603					0	0	0	0	G	100933383	T	G	100933383	2	3	15	1	0	0	0	0	0	0	0	1	11877	1741	61	5		5	PGR	11	100933383	Silent	SNP	T	TCGA-BA-6868-01B-12D-1912-08	1217410	100933383	34073133	105	3264											
PDGFD	80310	broad.mit.edu	37	chr11	103870957	103870957	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggatggtctcatctcttcGgtacaagtctgtgaggtgat	7	14	12	8	1	3	2	1	2	3	0	6	3	3	3	0	4	1	1	0	4	2	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:103870957G>A	ENST00000302251.5	-	2	584	c.133C>T	c.(133-135)Cga>Tga	p.R45*	PDGFD_ENST00000393158.2_Nonsense_Mutation_p.R51*	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	51					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TCATCTCTTCGGTACAAGTCT	0.458													25	353					0	0	0	0	A	103870957	G	A	103870957	4	1	15	1	0	0	0	0	0	1	0	0	11731	1124	39	1	985	1	PDGFD	11	103870957	Nonsense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	2937574	103870957	31135559	106	3265											
DSCAML1	57453	broad.mit.edu	37	chr11	117387378	117387378	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggagtagtagggatagccGatgaccctgcagttgataag	12	9	14	6	1	0	2	0	2	0	0	0	5	0	4	2	2	2	4	2	2	4	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:117387378G>A	ENST00000321322.6	-	8	1768	c.1767C>T	c.(1765-1767)atC>atT	p.I589I	DSCAML1_ENST00000527706.1_Silent_p.I319I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	529					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGGATAGCCGATGACCCTGC	0.592													7	23					0	0	0	0	A	117387378	G	A	117387378	2	1	15	1	0	0	0	0	0	0	0	1	4805	1048	37	1		1	DSCAML1	11	117387378	Silent	SNP	G	TCGA-BA-6868-01B-12D-1912-08	13516421	117387378	17619138	107	3266											
TECTA	7007	broad.mit.edu	37	chr11	121000847	121000847	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcagagctctgtgactcTgtggcccggtatgcaagcgc	7	9	14	11	2	3	2	1	1	2	1	3	3	3	2	1	2	3	3	1	2	2	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:121000847T>G	ENST00000392793.1	+	10	3139	c.2868T>G	c.(2866-2868)tcT>tcG	p.S956S	TECTA_ENST00000264037.2_Silent_p.S956S			O75443	TECTA_HUMAN	tectorin alpha	956					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCTGTGACTCTGTGGCCCGGT	0.602													21	43					0	0	0	0	G	121000847	T	G	121000847	2	3	15	1	0	0	0	0	0	0	0	1	15841	1567	55	5		5	TECTA	11	121000847	Silent	SNP	T	TCGA-BA-6868-01B-12D-1912-08	3613469	121000847	14005669	108	3267											
SOX5	6660	broad.mit.edu	37	chr12	23716248	23716248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaacagccaccttcccatCaagcacctgttgttcccgtc	9	9	5	18	1	1	0	1	0	0	0	4	0	3	0	5	0	3	3	5	0	2	3			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:23716248C>G	ENST00000546136.1	-	10	1395	c.1393G>C	c.(1393-1395)Gat>Cat	p.D465H	SOX5_ENST00000541536.1_Intron|SOX5_ENST00000545921.1_Missense_Mutation_p.D468H|SOX5_ENST00000451604.2_Missense_Mutation_p.D478H|SOX5_ENST00000537393.1_Missense_Mutation_p.D443H|SOX5_ENST00000309359.1_Missense_Mutation_p.D465H|SOX5_ENST00000396007.2_Missense_Mutation_p.D92H|SOX5_ENST00000381381.2_Intron			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	478					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACCTTCCCATCAAGCACCTGT	0.418													38	49					0	0	0	0	G	23716248	C	G	23716248	3	3	15	1	0	0	0	0	1	0	0	0	15042	826	29	2	879	2	SOX5	12	23716248	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08		23716248	110135647	109	3268											
TMEM117	84216	broad.mit.edu	37	chr12	44537363	44537363	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agactatatgggcatccgaaAtgaaagtttcatgaaattag	16	11	9	5	1	1	3	1	2	0	1	2	4	2	3	1	1	0	2	1	1	6	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:44537363A>G	ENST00000266534.3	+	4	573	c.446A>G	c.(445-447)aAt>aGt	p.N149S	TMEM117_ENST00000551577.1_Missense_Mutation_p.N149S|TMEM117_ENST00000536799.1_Intron	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	149						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GGCATCCGAAATGAAAGTTTC	0.408													20	36					0	0	0	0	G	44537363	A	G	44537363	3	3	15	1	0	0	0	0	1	0	0	0	16125	101	4	5	456	5	TMEM117	12	44537363	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	20821115	44537363	89314532	110	3269											
CCT2	10576	broad.mit.edu	37	chr12	69986801	69986801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctacagcaaaggttgcaGaaatagaacatgcggaaaag	18	6	10	7	1	1	2	0	0	1	2	1	3	1	3	0	2	5	3	0	2	7	3			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:69986801G>C	ENST00000543146.2	+	9	1137	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q	CCT2_ENST00000544368.2_Missense_Mutation_p.E266Q|CCT2_ENST00000299300.6_Missense_Mutation_p.E266Q	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	266					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AAAGGTTGCAGAAATAGAACA	0.343													13	35					0	0	0	0	C	69986801	G	C	69986801	3	2	15	1	0	0	0	0	1	0	0	0	2982	943	33	2	830	2	CCT2	12	69986801	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	25449438	69986801	63865094	111	3270											
TRHDE	29953	broad.mit.edu	37	chr12	72667201	72667201	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctctacccgcaaaccCaggtcttagtggtggtgctg	6	13	10	12	1	2	0	0	0	2	0	3	0	3	0	3	3	3	2	3	3	3	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:72667201C>A	ENST00000261180.4	+	1	739	c.643C>A	c.(643-645)Cag>Aag	p.Q215K	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	215					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCCGCAAACCCAGGTCTTAGT	0.572													28	34					1.75199e-13	2.36475e-13	1	0	A	72667201	C	A	72667201	3	1	15	1	0	0	0	0	1	0	0	0	16574	595	21	4	645	4	TRHDE	12	72667201	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	2680400	72667201	61184694	112	3271											
SLC6A15	55117	broad.mit.edu	37	chr12	85266514	85266514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgaaaggttgatatgatggGgaataatatcctgactaatg	14	13	11	3	0	0	4	0	4	0	0	1	5	1	5	1	3	0	1	1	3	6	6			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:85266514G>A	ENST00000266682.5	-	8	1710	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	SLC6A15_ENST00000552192.1_Missense_Mutation_p.P283L|SLC6A15_ENST00000309283.7_Missense_Mutation_p.P98L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	390					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GATATGATGGGGAATAATATC	0.323													3	37					0	0	0	0	A	85266514	G	A	85266514	3	1	15	1	0	0	0	0	1	0	0	0	14766	1232	43	4	1043	4	SLC6A15	12	85266514	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	12599313	85266514	48585381	113	3272											
KIAA1033	23325	broad.mit.edu	37	chr12	105556620	105556620	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgatgatggctttgccAtgggtaagcttaatggaatt	10	15	11	5	0	0	2	0	2	0	0	0	3	0	3	1	3	3	3	1	3	4	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:105556620A>G	ENST00000332180.5	+	30	3241	c.3154A>G	c.(3154-3156)Atg>Gtg	p.M1052V	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	1052					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TGGCTTTGCCATGGGTAAGCT	0.308													4	16					0	0	0	0	G	105556620	A	G	105556620	3	3	15	1	0	0	0	0	1	0	0	0	8257	217	8	5	3272	5	KIAA1033	12	105556620	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	20290106	105556620	28295275	114	3273											
SH2B3	10019	broad.mit.edu	37	chr12	111886081	111886081	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggagccacctgcgggccaTagacaatcagtacacacctc	11	5	9	16	2	1	1	1	0	0	1	2	2	1	2	5	2	3	1	5	2	3	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:111886081T>C	ENST00000341259.2	+	8	2060	c.1703T>C	c.(1702-1704)aTa>aCa	p.I568T	SH2B3_ENST00000538307.1_Missense_Mutation_p.I366T	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	568					blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						CTGCGGGCCATAGACAATCAG	0.562													6	10					0	0	0	0	C	111886081	T	C	111886081	3	2	15	1	0	0	0	0	1	0	0	0	14316	1406	49	5	1729	5	SH2B3	12	111886081	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08	6329461	111886081	21965814	115	3274											
TAOK3	51347	broad.mit.edu	37	chr12	118650751	118650751	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgatgttggcctttcctGaggtattttctgcaagcagt	6	16	11	8	0	1	2	0	2	1	0	2	2	2	2	2	2	3	5	2	2	2	5			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:118650751G>A	ENST00000392533.3	-	11	1277	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	TAOK3_ENST00000419821.2_Nonsense_Mutation_p.Q263*	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	263	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCTTTCCTGAGGTATTTTC	0.348													17	12					0	0	0	0	A	118650751	G	A	118650751	4	1	15	1	0	0	0	0	0	1	0	0	15640	1299	45	2	1953	2	TAOK3	12	118650751	Nonsense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	6764670	118650751	15201144	116	3275											
NCOR2	9612	broad.mit.edu	37	chr12	124821412	124821412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccgggctggcgtggtgaGgtgcgaggttcttcgcaggg	3	9	21	8	4	1	1	0	1	1	0	3	2	2	1	1	7	1	3	1	7	0	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:124821412G>C	ENST00000356219.3	-	39	6178	c.6023C>G	c.(6022-6024)cCt>cGt	p.P2008R	NCOR2_ENST00000405201.1_Missense_Mutation_p.P2001R|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1991R|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1562R|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1992R|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1991R	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2012					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCGTGGTGAGGTGCGAGGTT	0.687													18	16					0	0	0	0	C	124821412	G	C	124821412	3	2	15	1	0	0	0	0	1	0	0	0	10306	1000	35	4	1582	4	NCOR2	12	124821412	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	6170661	124821412	9030483	117	3276											
NHLRC3	387921	broad.mit.edu	37	chr13	39621219	39621219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaaagaatccaagtatttGataaagacactggggagtgg	17	9	11	4	0	0	3	0	1	0	2	1	4	1	4	1	3	0	1	1	3	7	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr13:39621219G>A	ENST00000379600.3	+	6	1043	c.721G>A	c.(721-723)Gat>Aat	p.D241N	NHLRC3_ENST00000470258.1_Missense_Mutation_p.D44N|NHLRC3_ENST00000379599.2_Missense_Mutation_p.D174N	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	241						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CCAAGTATTTGATAAAGACAC	0.363													53	25					0	0	0	0	A	39621219	G	A	39621219	3	1	15	1	0	0	0	0	1	0	0	0	10477	1290	45	2	743	2	NHLRC3	13	39621219	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08		39621219	75548659	118	3277											
ACIN1	22985	broad.mit.edu	37	chr14	23547373	23547373	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttacacagtgtgatgaaTtctttctgattctggcagat	10	15	8	8	0	3	4	0	3	3	1	3	4	3	4	0	1	1	1	0	1	2	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr14:23547373T>C	ENST00000262710.1	-	8	2611	c.2284A>G	c.(2284-2286)Att>Gtt	p.I762V	ACIN1_ENST00000555053.1_Missense_Mutation_p.I762V|ACIN1_ENST00000605057.1_Missense_Mutation_p.I704V|ACIN1_ENST00000457657.1_Missense_Mutation_p.I722V|ACIN1_ENST00000555352.1_5'UTR	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	762					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTGTGATGAATTCTTTCTGAT	0.493													68	106					0	0	0	0	C	23547373	T	C	23547373	3	2	15	1	0	0	0	0	1	0	0	0	142	1493	52	5	1936	5	ACIN1	14	23547373	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08		23547373	83802167	119	3278											
NOVA1	4857	broad.mit.edu	37	chr14	26949229	26949229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtctggggttgtagaatgCtgactggttctgtcttggcc	4	15	15	7	0	3	2	0	1	3	1	3	2	3	2	1	5	1	4	1	5	2	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr14:26949229C>A	ENST00000539517.2	-	3	718	c.401G>T	c.(400-402)aGc>aTc	p.S134I	NOVA1_ENST00000465357.2_Missense_Mutation_p.S134I|NOVA1_ENST00000547619.1_Missense_Mutation_p.S134I|NOVA1_ENST00000344429.5_Missense_Mutation_p.S134I|NOVA1_ENST00000574031.1_Missense_Mutation_p.S134I|NOVA1_ENST00000267422.7_Missense_Mutation_p.S12I	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	137					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTGTAGAATGCTGACTGGTTC	0.418													48	86					6.9144e-35	9.71561e-35	1	0	A	26949229	C	A	26949229	3	1	15	1	0	0	0	0	1	0	0	0	10624	797	28	4	1165	4	NOVA1	14	26949229	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	3401856	26949229	80400311	120	3279											
HEATR5A	25938	broad.mit.edu	37	chr14	31819914	31819915	+	Frame_Shift_Ins	INS	-	-	A																															tgtccaaaagctgttccaatINSataagaagcctacaatcaga																										TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr14:31819914_31819915insA	ENST00000543095.2	-	17	2604_2605	c.2420_2421insT	c.(2419-2421)attfs	p.I807fs	HEATR5A_ENST00000389961.3_Frame_Shift_Ins_p.I801fs|HEATR5A_ENST00000404677.3_Frame_Shift_Ins_p.I807fs|HEATR5A_ENST00000439727.1_Frame_Shift_Ins_p.I514fs|HEATR5A_ENST00000439348.1_Frame_Shift_Ins_p.I801fs	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	801							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GCTGTTCCAATATAAGAAGCCT	0.351													6	10	---	---	---	---					A	31819915	-	A	31819914	7	5	15	1	0	1	1	0	0	0	0	0	7081	1396	49	0	3799	0	HEATR5A	14	31819914	Frame_Shift_Ins	INS	-	TCGA-BA-6868-01B-12D-1912-08	4870685	31819914	75529626	121	3280											
SYNE2	23224	broad.mit.edu	37	chr14	64494410	64494410	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctaaaggagttaaaatctCagggaaactacctcttggag	14	10	10	7	0	2	0	1	0	2	0	3	3	2	3	1	3	3	2	1	3	6	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr14:64494410C>T	ENST00000358025.3	+	43	6843	c.6613C>T	c.(6613-6615)Cag>Tag	p.Q2205*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q2205*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q2205*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2205					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTTAAAATCTCAGGGAAACTA	0.403													25	38					0	0	0	0	T	64494410	C	T	64494410	4	4	15	1	0	0	0	0	0	1	0	0	15537	827	29	2	6779	2	SYNE2	14	64494410	Nonsense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	32674496	64494410	42855130	122	3281											
AHNAK2	113146	broad.mit.edu	37	chr14	105415528	105415528	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgtccacctgggggcccTtgaggtccactttgggcatc	5	11	13	12	0	0	2	0	2	0	0	3	2	2	2	4	4	0	1	4	4	0	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr14:105415528T>C	ENST00000333244.5	-	7	6379	c.6260A>G	c.(6259-6261)aAg>aGg	p.K2087R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2087						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGGGGGCCCTTGAGGTCCAC	0.612													127	200					0	0	0	0	C	105415528	T	C	105415528	3	2	15	1	0	0	0	0	1	0	0	0	415	1609	56	5	11131	5	AHNAK2	14	105415528	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08	40921118	105415528	1934012	123	3282											
TRPM1	4308	broad.mit.edu	37	chr15	31294736	31294736	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttttagagtctgtctgTctttcatcatcttcctttga	5	22	5	9	0	7	2	2	1	5	1	8	2	8	2	1	0	0	0	1	0	1	6			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr15:31294736T>C	ENST00000542188.1	-	27	4531	c.4218A>G	c.(4216-4218)agA>agG	p.R1406R	TRPM1_ENST00000256552.6_Silent_p.R1389R|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Silent_p.R1367R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1367					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGTCTGTCTGTCTTTCATCAT	0.378													64	66					0	0	0	0	C	31294736	T	C	31294736	2	2	15	1	0	0	0	0	0	0	0	1	16680	1664	58	5		5	TRPM1	15	31294736	Silent	SNP	T	TCGA-BA-6868-01B-12D-1912-08		31294736	71236656	124	3283											
DUOX1	53905	broad.mit.edu	37	chr15	45434285	45434285	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggcttcggggtcaccatCgggaccctctgttgcttccc	3	13	11	14	2	2	0	1	0	1	0	5	1	3	1	3	4	1	3	3	4	0	4	rs140249290	byFrequency	TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr15:45434285C>T	ENST00000321429.4	+	16	2204	c.1797C>T	c.(1795-1797)atC>atT	p.I599I	DUOX1_ENST00000561166.1_Silent_p.I245I|DUOX1_ENST00000389037.3_Silent_p.I599I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	599					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GGGTCACCATCGGGACCCTCT	0.557													7	95					0	0	0	0	T	45434285	C	T	45434285	2	4	15	1	0	0	0	0	0	0	0	1	4836	874	31	1		1	DUOX1	15	45434285	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08	14139549	45434285	57097107	125	3284											
RASL12	51285	broad.mit.edu	37	chr15	65347288	65347288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtaggcgccttgcgcttGctctgggcccgggatgactt	4	10	16	11	3	1	1	0	1	1	0	1	2	1	2	2	4	2	3	2	4	1	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr15:65347288G>T	ENST00000220062.4	-	5	1026	c.750C>A	c.(748-750)agC>agA	p.S250R	RASL12_ENST00000434605.2_Missense_Mutation_p.S239R|RASL12_ENST00000421977.3_Missense_Mutation_p.S231R	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	250					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CCTTGCGCTTGCTCTGGGCCC	0.627											OREG0023189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	15					2.23348e-06	2.87312e-06	1	0	T	65347288	G	T	65347288	3	4	15	1	0	0	0	0	1	0	0	0	13165	1310	46	4	54	4	RASL12	15	65347288	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	19913003	65347288	37184104	126	3285											
CLK3	1198	broad.mit.edu	37	chr15	74919886	74919888	+	In_Frame_Del	DEL	GAG	GAG	-																															gccttgcctttcagagctgtGaggagaagtcagtgaagaac																								rs149199059		TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr15:74919886_74919888delGAG	ENST00000395066.3	+	9	1824_1826	c.1363_1365delGAG	c.(1363-1365)del	p.E456del	CLK3_ENST00000352989.5_In_Frame_Del_p.E285del|CLK3_ENST00000345005.4_In_Frame_Del_p.E308del|CLK3_ENST00000348245.3_3'UTR	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	456	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TCAGAGCTGTGAGGAGAAGTCAG	0.576													54	54	---	---	---	---					-	74919888	GAG	-	74919886	7	5	15	1	0	1	0	1	0	0	0	0	3568	1291	45	0	1397	0	CLK3	15	74919886	In_Frame_Del	DEL	GAG	TCGA-BA-6868-01B-12D-1912-08	9572598	74919886	27611506	127	3286											
SH2D7	646892	broad.mit.edu	37	chr15	78390796	78390796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgtggacccagaaaaccCacctgccacggcattcctca	11	6	7	17	2	1	1	1	0	0	1	3	2	2	2	5	2	2	1	5	2	2	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr15:78390796C>T	ENST00000328828.5	+	4	503	c.503C>T	c.(502-504)cCa>cTa	p.P168L	SH2D7_ENST00000409568.2_Missense_Mutation_p.P32L	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	168										endometrium(2)|kidney(2)|lung(3)	7						CCAGAAAACCCACCTGCCACG	0.607													15	24					0	0	0	0	T	78390796	C	T	78390796	3	4	15	1	0	0	0	0	1	0	0	0	14326	594	21	4	517	4	SH2D7	15	78390796	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	3470910	78390796	24140596	128	3287											
AEN	64782	broad.mit.edu	37	chr15	89173493	89173493	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcccacggcagcagaggaGgagccagggaggcacaggac	11	1	18	11	1	0	1	0	0	0	1	0	5	0	5	2	7	2	3	2	7	0	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr15:89173493G>T	ENST00000332810.3	+	4	1097	c.946G>T	c.(946-948)Gga>Tga	p.G316*	AEN_ENST00000379231.3_Intron	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	316					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						CAGCAGAGGAGGAGCCAGGGA	0.647													8	9					0.00448238	0.00555734	1	0	T	89173493	G	T	89173493	4	4	15	1	0	0	0	0	0	1	0	0	351	1001	35	4	956	4	AEN	15	89173493	Nonsense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	10782697	89173493	13357899	129	3288											
ADCY9	115	broad.mit.edu	37	chr16	4165167	4165167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttcaccgagtcgaacttggGgtcccaccagcggctggagg	7	7	15	12	3	1	0	1	0	0	0	3	3	2	1	3	5	2	2	3	5	1	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:4165167G>A	ENST00000294016.3	-	2	815	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	93					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCGAACTTGGGGTCCCACCAG	0.706													12	42					0	0	0	0	A	4165167	G	A	4165167	3	1	15	1	0	0	0	0	1	0	0	0	301	1232	43	4	3824	4	ADCY9	16	4165167	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08		4165167	86189586	130	3289											
TFAP4	7023	broad.mit.edu	37	chr16	4308235	4308235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcttttcctgggtgccctCgatgtgctggattgcctgga	3	14	13	11	1	0	0	0	0	0	0	2	3	1	2	3	3	4	2	3	3	0	3			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:4308235C>T	ENST00000204517.6	-	7	1166	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	280					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TGGGTGCCCTCGATGTGCTGG	0.657													18	30					0	0	0	0	T	4308235	C	T	4308235	3	4	15	1	0	0	0	0	1	0	0	0	15886	893	31	1	182	1	TFAP4	16	4308235	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	143068	4308235	86046518	131	3290											
GPRC5B	51704	broad.mit.edu	37	chr16	19871853	19871853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcctgtgtgacttggcGgagcagttgggatctggaat	6	13	15	7	1	2	1	0	1	2	0	3	4	3	4	1	4	1	2	1	4	1	3	rs147744945		TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:19871853G>A	ENST00000300571.2	-	4	1372	c.1181C>T	c.(1180-1182)cCg>cTg	p.P394L	GPRC5B_ENST00000569479.1_Missense_Mutation_p.P394L|GPRC5B_ENST00000537135.1_Missense_Mutation_p.P420L|GPRC5B_ENST00000535671.1_Intron|GPRC5B_ENST00000569847.1_Missense_Mutation_p.P394L	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	394										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTGACTTGGCGGAGCAGTTGG	0.448													14	23					0	0	0	0	A	19871853	G	A	19871853	3	1	15	1	0	0	0	0	1	0	0	0	6775	1116	39	1	34	1	GPRC5B	16	19871853	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	15563618	19871853	70482900	132	3291											
TNRC6A	27327	broad.mit.edu	37	chr16	24800634	24800634	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaagtgattctagcacaaActgtaagaatgctgttgtaa	15	12	8	6	0	1	2	0	1	1	1	1	2	1	2	0	0	4	5	0	0	7	6			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:24800634A>T	ENST00000395799.3	+	6	800	c.671A>T	c.(670-672)aAc>aTc	p.N224I	TNRC6A_ENST00000315183.7_Missense_Mutation_p.N224I	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	224	Ser-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTAGCACAAACTGTAAGAAT	0.448													47	62					0	0	0	0	T	24800634	A	T	24800634	3	4	15	1	0	0	0	0	1	0	0	0	16434	43	2	5	693	5	TNRC6A	16	24800634	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	4928781	24800634	65554119	133	3292											
SEZ6L2	26470	broad.mit.edu	37	chr16	29906732	29906732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggcctggggatcccccaCcagccagcaccaggagctcc	8	3	11	19	0	0	0	0	0	0	0	2	2	2	2	8	4	3	2	8	4	0	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:29906732C>T	ENST00000308713.5	-	5	1228	c.701G>A	c.(700-702)gGt>gAt	p.G234D	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G190D|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G164D|SEZ6L2_ENST00000346932.5_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	234	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGATCCCCCACCAGCCAGCAC	0.622													34	50					0	0	0	0	T	29906732	C	T	29906732	3	4	15	1	0	0	0	0	1	0	0	0	14231	507	18	4	2126	4	SEZ6L2	16	29906732	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	5106098	29906732	60448021	134	3293											
TMEM219	124446	broad.mit.edu	37	chr16	29979372	29979372	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcaggacaactggtccttAtcacagccagggtgaccaca	11	7	10	13	0	1	1	1	1	0	0	2	2	2	2	3	3	3	1	3	3	2	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:29979372A>T	ENST00000566848.1	+	3	849	c.382A>T	c.(382-384)Atc>Ttc	p.I128F	TMEM219_ENST00000561899.2_Missense_Mutation_p.I128F|TMEM219_ENST00000414689.2_Missense_Mutation_p.I128F|TMEM219_ENST00000279396.6_Missense_Mutation_p.I128F			Q86XT9	TM219_HUMAN	transmembrane protein 219	128						integral to membrane				large_intestine(1)|lung(1)|prostate(2)	4						ACTGGTCCTTATCACAGCCAG	0.507													61	101					0	0	0	0	T	29979372	A	T	29979372	3	4	15	1	0	0	0	0	1	0	0	0	16236	449	16	5	392	5	TMEM219	16	29979372	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	72640	29979372	60375381	135	3294											
ABCC12	94160	broad.mit.edu	37	chr16	48138167	48138167	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaaaactgctgcagaaagTtctctgcgtgaaacggcagc	14	8	10	9	2	1	2	0	1	1	1	2	2	1	2	0	1	6	4	0	1	5	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:48138167T>G	ENST00000311303.3	-	20	3131	c.2786A>C	c.(2785-2787)aAc>aCc	p.N929T	ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	929	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTGCAGAAAGTTCTCTGCGTG	0.493													15	310					0	0	0	0	G	48138167	T	G	48138167	3	3	15	1	0	0	0	0	1	0	0	0	52	1725	60	5	1333	5	ABCC12	16	48138167	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08	18158795	48138167	42216586	136	3295											
DHX38	9785	broad.mit.edu	37	chr16	72143370	72143370	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggcggagctgggcccCatgttctatagcgtgaaaca	8	9	14	10	2	1	1	0	1	1	0	1	2	1	2	2	4	3	3	2	4	3	3			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:72143370C>T	ENST00000268482.3	+	25	3947	c.3438C>T	c.(3436-3438)ccC>ccT	p.P1146P	DHX38_ENST00000536867.1_Silent_p.P458P	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1146					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGCTGGGCCCCATGTTCTATA	0.637													8	23					0	0	0	0	T	72143370	C	T	72143370	2	4	15	1	0	0	0	0	0	0	0	1	4548	581	21	4		4	DHX38	16	72143370	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08	24005203	72143370	18211383	137	3296											
CLEC18B	497190	broad.mit.edu	37	chr16	74455117	74455117	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgccaaggagggccaGgagcacagccaggagatgcc	10	3	18	10	0	0	1	0	0	0	1	0	4	0	3	4	6	4	1	4	6	1	0	rs141907838	byFrequency	TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:74455117G>A	ENST00000339953.5	-	1	173	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	18						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGGAGGGCCAGGAGCACAGCC	0.682													24	99					0	0	0	0	A	74455117	G	A	74455117	2	1	15	1	0	0	0	0	0	0	0	1	3533	991	35	4		4	CLEC18B	16	74455117	Silent	SNP	G	TCGA-BA-6868-01B-12D-1912-08	2311747	74455117	15899636	138	3297											
CTU2	348180	broad.mit.edu	37	chr16	88780121	88780121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcgggaccacaccctgaagGaggtcgctttctacaaccgc	9	7	11	14	3	1	1	0	1	1	0	2	3	1	3	3	3	3	1	3	3	3	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:88780121G>A	ENST00000567949.1	+	9	1162	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	CTU2_ENST00000378384.3_Missense_Mutation_p.E227K|CTU2_ENST00000453996.2_Missense_Mutation_p.E314K|CTU2_ENST00000312060.5_Missense_Mutation_p.E314K			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	314					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						CACCCTGAAGGAGGTCGCTTT	0.637													44	106					0	0	0	0	A	88780121	G	A	88780121	3	1	15	1	0	0	0	0	1	0	0	0	4080	1175	41	2	974	2	CTU2	16	88780121	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	14325004	88780121	1574632	139	3298											
TP53	7157	broad.mit.edu	37	chr17	7578268	7578268	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttccttccactcggataAgatgctgaggaggggccaga	11	9	12	9	1	0	3	0	1	0	2	3	5	2	5	3	4	1	1	3	4	2	3			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:7578268A>G	ENST00000420246.2	-	6	713	c.581T>C	c.(580-582)cTt>cCt	p.L194P	TP53_ENST00000359597.4_Missense_Mutation_p.L194P|TP53_ENST00000413465.2_Missense_Mutation_p.L194P|TP53_ENST00000269305.4_Missense_Mutation_p.L194P|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.L194P|TP53_ENST00000455263.2_Missense_Mutation_p.L194P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACTCGGATAAGATGCTGAGG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	12					0	0	0	0	G	7578268	A	G	7578268	3	3	15	1	0	0	0	0	1	0	0	0	16476	72	3	5	713	5	TP53	17	7578268	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08		7578268	73616942	140	3299											
VTN	7448	broad.mit.edu	37	chr17	26696658	26696658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggccttgagtctatcccCtcaggcttagaggcgcccac	7	9	10	15	1	3	2	2	1	1	1	4	2	4	2	4	3	0	1	4	3	2	3			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:26696658C>G	ENST00000226218.4	-	3	1017	c.399G>C	c.(397-399)gaG>gaC	p.E133D	SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	133					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	AGTCTATCCCCTCAGGCTTAG	0.622													17	21					0	0	0	0	G	26696658	C	G	26696658	3	3	15	1	0	0	0	0	1	0	0	0	17333	680	24	4	1061	4	VTN	17	26696658	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	19118390	26696658	54498552	141	3300											
KIAA0100	9703	broad.mit.edu	37	chr17	26962035	26962035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggcttggagaggcccaaGcacgagtcccttgatgtagt	9	8	14	10	1	0	2	0	1	0	1	1	4	1	2	2	3	1	3	2	3	2	3			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:26962035G>T	ENST00000528896.2	-	16	2644	c.2570C>A	c.(2569-2571)gCt>gAt	p.A857D	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.A714D|KIAA0100_ENST00000389003.3_Missense_Mutation_p.A714D	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	857						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGAGGCCCAAGCACGAGTCCC	0.483													85	106					3.61627e-53	5.13398e-53	1	0	T	26962035	G	T	26962035	3	4	15	1	0	0	0	0	1	0	0	0	8205	971	34	4	4233	4	KIAA0100	17	26962035	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	265377	26962035	54233175	142	3301											
TIAF1	9220	broad.mit.edu	37	chr17	27400997	27400997	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtttaccttaaataggtcaTtgcacataacacgctgagac	13	11	8	9	1	1	1	1	1	0	1	1	2	1	1	1	2	3	3	1	2	5	6	rs115510379	by1000genomes	TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:27400997T>C	ENST00000359450.6	-	1	4878	c.221A>G	c.(220-222)aAt>aGt	p.N74S	MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000527372.1_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.N74S|MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000533112.1_3'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	74					anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAATAGGTCATTGCACATAAC	0.552													25	74					0	0	0	0	C	27400997	T	C	27400997	3	2	15	1	0	0	0	0	1	0	0	0	15982	1493	52	5	130	5	TIAF1	17	27400997	Missense_Mutation	SNP	T	TCGA-BA-6868-01B-12D-1912-08	438962	27400997	53794213	143	3302											
RFFL	117584	broad.mit.edu	37	chr17	33348470	33348470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggttgggtgaggtaggtgGaaccatgctggagtgaggct	8	9	20	4	0	0	2	0	2	0	0	0	5	0	4	1	7	2	4	1	7	2	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:33348470G>T	ENST00000315249.7	-	3	733	c.511C>A	c.(511-513)Cca>Aca	p.P171T	RFFL_ENST00000394597.2_Missense_Mutation_p.P171T|RFFL_ENST00000268850.7_Missense_Mutation_p.P171T|RFFL_ENST00000584655.1_Missense_Mutation_p.P171T|RFFL_ENST00000378516.2_Missense_Mutation_p.P171T|RFFL_ENST00000447669.2_Missense_Mutation_p.P171T|RFFL_ENST00000415395.2_Missense_Mutation_p.P171T|RFFL_ENST00000413582.2_Missense_Mutation_p.P171T|RAD51L3-RFFL_ENST00000593039.1_Intron			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	171					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GAGGTAGGTGGAACCATGCTG	0.587													13	19					2.27111e-07	2.96326e-07	1	0	T	33348470	G	T	33348470	3	4	15	1	0	0	0	0	1	0	0	0	13332	1174	41	2	600	2	RFFL	17	33348470	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	5947473	33348470	47846740	144	3303											
HEXIM1	10614	broad.mit.edu	37	chr17	43226879	43226879	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgacttcccgccgccggcaGaagtggaaccgacgcccgag	8	3	14	16	7	0	1	0	0	0	1	1	5	1	2	5	2	1	1	5	2	2	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:43226879G>C	ENST00000332499.2	+	1	2196	c.322G>C	c.(322-324)Gaa>Caa	p.E108Q		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	108					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCGCCGGCAGAAGTGGAACC	0.677											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	5					0	0	0	0	C	43226879	G	C	43226879	3	2	15	1	0	0	0	0	1	0	0	0	7126	943	33	2	324	2	HEXIM1	17	43226879	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	9878409	43226879	37968331	145	3304											
PPM1D	8493	broad.mit.edu	37	chr17	58678140	58678140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcccgggagcacttgtgggGtttcatcaagaagcagaagg	10	8	15	8	1	2	2	2	0	0	2	2	3	2	3	1	4	3	3	1	4	3	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:58678140G>T	ENST00000305921.3	+	1	597	c.365G>T	c.(364-366)gGt>gTt	p.G122V		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	122	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			CACTTGTGGGGTTTCATCAAG	0.637													7	35					1.26484e-09	1.67424e-09	1	0	T	58678140	G	T	58678140	3	4	15	1	0	0	0	0	1	0	0	0	12413	1261	44	4	367	4	PPM1D	17	58678140	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	15451261	58678140	22517070	146	3305											
BPTF	2186	broad.mit.edu	37	chr17	65905793	65905793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagagcctgattctgaaaaaGatgaggtaaaaggttcagat	16	10	11	4	0	2	6	1	3	1	3	2	6	2	6	1	2	1	2	1	2	5	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:65905793G>A	ENST00000321892.4	+	12	3347	c.3286G>A	c.(3286-3288)Gat>Aat	p.D1096N	BPTF_ENST00000306378.6_Missense_Mutation_p.D970N|BPTF_ENST00000335221.5_Missense_Mutation_p.D1096N|BPTF_ENST00000424123.3_Missense_Mutation_p.D957N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1096					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTCTGAAAAAGATGAGGTAAA	0.343													11	43					0	0	0	0	A	65905793	G	A	65905793	3	1	15	1	0	0	0	0	1	0	0	0	1503	942	33	2	3332	2	BPTF	17	65905793	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	7227653	65905793	15289417	147	3306											
CCDC57	284001	broad.mit.edu	37	chr17	80156247	80156247	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttttctctccagtgtccaTtttagattttcatactgttc	7	20	5	9	0	2	1	1	0	1	1	6	1	4	1	2	0	1	2	2	0	2	8			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:80156247T>C	ENST00000389641.4	-	3	495	c.459A>G	c.(457-459)aaA>aaG	p.K153K	CCDC57_ENST00000392343.3_Silent_p.K153K|CCDC57_ENST00000392347.1_Silent_p.K153K			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	153										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CCAGTGTCCATTTTAGATTTT	0.478													3	34					0	0	0	0	C	80156247	T	C	80156247	2	2	15	1	0	0	0	0	0	0	0	1	2854	1490	52	5		5	CCDC57	17	80156247	Silent	SNP	T	TCGA-BA-6868-01B-12D-1912-08	14250454	80156247	1038963	148	3307											
FHOD3	80206	broad.mit.edu	37	chr18	34298136	34298136	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttccatctcccctgatgctGagcccaatgacaaggtccca	9	9	8	15	0	1	3	0	3	1	0	4	3	3	3	5	1	2	2	5	1	2	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr18:34298136G>C	ENST00000257209.4	+	16	2472	c.2350G>C	c.(2350-2352)Gag>Cag	p.E784Q	FHOD3_ENST00000445677.1_Missense_Mutation_p.E746Q|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Missense_Mutation_p.E959Q|FHOD3_ENST00000359247.4_Missense_Mutation_p.E767Q	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	767					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCCTGATGCTGAGCCCAATGA	0.542													41	249					0	0	0	0	C	34298136	G	C	34298136	3	2	15	1	0	0	0	0	1	0	0	0	5928	1291	45	2	2412	2	FHOD3	18	34298136	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08		34298136	43779112	149	3308											
PIK3C3	5289	broad.mit.edu	37	chr18	39629561	39629561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggataaccttttgctaaCaaaaacaggtaacaattaat	17	11	5	8	0	0	0	0	0	0	0	0	1	0	1	2	2	5	2	2	2	7	6			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr18:39629561C>G	ENST00000262039.4	+	21	2341	c.2255C>G	c.(2254-2256)aCa>aGa	p.T752R	PIK3C3_ENST00000593098.1_Missense_Mutation_p.T237R|PIK3C3_ENST00000589056.1_Missense_Mutation_p.T99R|PIK3C3_ENST00000587402.1_Missense_Mutation_p.T99R|PIK3C3_ENST00000398870.3_Missense_Mutation_p.T689R	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	752	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CTTTTGCTAACAAAAACAGGT	0.378										TSP Lung(28;0.18)			34	19					0	0	0	0	G	39629561	C	G	39629561	3	3	15	1	0	0	0	0	1	0	0	0	11984	478	17	4	2337	4	PIK3C3	18	39629561	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	5331425	39629561	38447687	150	3309											
MED16	10025	broad.mit.edu	37	chr19	885883	885883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagggcaggatctccgtgtCgatacggcacttctcgctca	7	9	13	12	4	3	0	1	0	2	0	6	3	3	2	1	4	1	3	1	4	1	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:885883C>T	ENST00000312090.6	-	5	916	c.766G>A	c.(766-768)Gac>Aac	p.D256N	MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Missense_Mutation_p.D256N|MED16_ENST00000269814.4_Missense_Mutation_p.D256N|MED16_ENST00000589119.1_Missense_Mutation_p.D256N|MED16_ENST00000325464.1_Missense_Mutation_p.D256N			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	256					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		ATCTCCGTGTCGATACGGCAC	0.647													4	66					0	0	0	0	T	885883	C	T	885883	3	4	15	1	0	0	0	0	1	0	0	0	9503	884	31	1	1915	1	MED16	19	885883	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08		885883	58243100	151	3310											
FUT5	2527	broad.mit.edu	37	chr19	5867283	5867283	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccggcagttgctgggggActccatgctgaaccagatcc	7	8	14	12	1	0	2	0	1	0	1	2	3	2	3	4	3	4	4	4	3	1	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:5867283A>G	ENST00000252675.5	-	5	1016	c.454T>C	c.(454-456)Tcc>Ccc	p.S152P	FUT5_ENST00000588525.1_Missense_Mutation_p.S152P			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	152					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TTGCTGGGGGACTCCATGCTG	0.627													7	30					0	0	0	0	G	5867283	A	G	5867283	3	3	15	1	0	0	0	0	1	0	0	0	6155	275	10	5	674	5	FUT5	19	5867283	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	4981400	5867283	53261700	152	3311											
JAK3	3718	broad.mit.edu	37	chr19	17948809	17948809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtctttcgggcctccccatCcaccacctcatggcgacagc	6	9	8	18	2	2	0	1	0	1	0	5	1	4	0	6	2	1	0	6	2	0	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:17948809C>G	ENST00000458235.1	-	12	1732	c.1633G>C	c.(1633-1635)Gat>Cat	p.D545H	JAK3_ENST00000527670.1_Missense_Mutation_p.D545H|JAK3_ENST00000534444.1_Missense_Mutation_p.D545H	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	545	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GCCTCCCCATCCACCACCTCA	0.567		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								67	95					0	0	0	0	G	17948809	C	G	17948809	3	3	15	1	0	0	0	0	1	0	0	0	7992	855	30	2	1793	2	JAK3	19	17948809	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	12081526	17948809	41180174	153	3312											
ZNF99	7652	broad.mit.edu	37	chr19	22942464	22942464	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatctggccaaaagtcttGtgtaaaatgagaactaataa	16	11	8	6	0	2	2	0	2	2	1	2	3	2	2	1	1	1	1	1	1	7	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:22942464G>C	ENST00000397104.3	-	4	309	c.310C>G	c.(310-312)Caa>Gaa	p.Q104E	ZNF99_ENST00000596209.1_Missense_Mutation_p.Q83E					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CAAAAGTCTTGTGTAAAATGA	0.279													16	17					0	0	0	0	C	22942464	G	C	22942464	3	2	15	1	0	0	0	0	1	0	0	0	18297	1386	48	4	2818	4	ZNF99	19	22942464	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	4993655	22942464	36186519	154	3313											
ZNF91	7644	broad.mit.edu	37	chr19	23544197	23544197	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattaagggttaaggattgTctaaaagctttgccacattc	12	15	8	6	0	1	0	0	0	1	0	2	1	1	1	1	2	2	2	1	2	5	7			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:23544197T>C	ENST00000300619.7	-	4	1789	c.1584A>G	c.(1582-1584)agA>agG	p.R528R	ZNF91_ENST00000397082.2_Silent_p.R496R|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	528						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTAAGGATTGTCTAAAAGCTT	0.343													9	20					0	0	0	0	C	23544197	T	C	23544197	2	2	15	1	0	0	0	0	0	0	0	1	18293	1664	58	5		5	ZNF91	19	23544197	Silent	SNP	T	TCGA-BA-6868-01B-12D-1912-08	601733	23544197	35584786	155	3314											
ZNF91	7644	broad.mit.edu	37	chr19	23544264	23544264	+	Missense_Mutation	SNP	G	G	T																															tatgaattatcttatgtttaGtaagggttgaggattgccta																										TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:23544264G>T	ENST00000300619.7	-	4	1722	c.1517C>A	c.(1516-1518)aCt>aAt	p.T506N	ZNF91_ENST00000397082.2_Missense_Mutation_p.T474N|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	506						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTTATGTTTAGTAAGGGTTGA	0.363													9	31					5.4927e-09	7.20096e-09	1	0	T	23544264	G	T	23544264	3	4	15	1	0	0	0	0	1	0	0	0	18293	1029	36	4	2062	4	ZNF91	19	23544264	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	67	23544264	35584719	156	3315	34	2									
ZNF91	7644	broad.mit.edu	37	chr19	23544273	23544273	+	Missense_Mutation	SNP	G	G	A																															tcttatgtttagtaagggttGaggattgcctaaaagctttg																										TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:23544273G>A	ENST00000300619.7	-	4	1713	c.1508C>T	c.(1507-1509)tCa>tTa	p.S503L	ZNF91_ENST00000397082.2_Missense_Mutation_p.S471L|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	503						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTAAGGGTTGAGGATTGCCT	0.368													11	31					0	0	0	0	A	23544273	G	A	23544273	3	1	15	1	0	0	0	0	1	0	0	0	18293	1294	45	2	2071	2	ZNF91	19	23544273	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	9	23544273	35584710	157	3316	34	2									
SLC7A10	56301	broad.mit.edu	37	chr19	33699842	33699842	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaggcagcagggagggTgggcaggggccattctcctc	6	6	19	10	0	1	0	0	0	1	0	3	1	1	1	2	7	1	4	2	7	0	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:33699842T>G	ENST00000253188.3	-	11	1673	c.1527A>C	c.(1525-1527)ccA>ccC	p.P509P		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	509					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GCAGGGAGGGTGGGCAGGGGC	0.547													10	70					0	0	0	0	G	33699842	T	G	33699842	2	3	15	1	0	0	0	0	0	0	0	1	14781	1683	59	5		5	SLC7A10	19	33699842	Silent	SNP	T	TCGA-BA-6868-01B-12D-1912-08	10155569	33699842	25429141	158	3317											
NPHS1	4868	broad.mit.edu	37	chr19	36335330	36335330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccaccgcggtcaccacCagcacctgctcccccaggaa	8	5	8	20	2	1	0	1	0	0	0	3	1	3	1	7	2	3	3	7	2	1	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:36335330C>T	ENST00000378910.5	-	15	1961	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L	NPHS1_ENST00000353632.6_Silent_p.L654L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	654					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGTCACCACCAGCACCTGCT	0.637													3	3					0	0	0	0	T	36335330	C	T	36335330	2	4	15	1	0	0	0	0	0	0	0	1	10652	581	21	4		4	NPHS1	19	36335330	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08	2635488	36335330	22793653	159	3318											
CYP2F1	1572	broad.mit.edu	37	chr19	41630665	41630665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgtggtgggacgcgcgCggctgccggcgctgaaggac	5	5	18	13	7	0	1	0	1	0	0	1	3	0	3	2	5	1	2	2	5	1	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:41630665C>T	ENST00000331105.2	+	8	1078	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	336					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGGACGCGCGCGGCTGCCGGC	0.677													10	6					0	0	0	0	T	41630665	C	T	41630665	3	4	15	1	0	0	0	0	1	0	0	0	4203	759	27	1	1032	1	CYP2F1	19	41630665	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	5295335	41630665	17498318	160	3319											
MAMSTR	284358	broad.mit.edu	37	chr19	49216571	49216571	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagccggctgctgctggagtCagataagtcagcggagaaga	11	6	15	9	2	2	3	2	0	0	3	2	5	2	4	1	3	4	3	1	3	2	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:49216571C>G	ENST00000318083.6	-	10	1264	c.1201G>C	c.(1201-1203)Gac>Cac	p.D401H	MAMSTR_ENST00000377367.3_Missense_Mutation_p.D233H|MAMSTR_ENST00000594582.1_Missense_Mutation_p.D233H|MAMSTR_ENST00000356751.4_Missense_Mutation_p.D298H|MAMSTR_ENST00000419611.1_Missense_Mutation_p.D298H			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	401	Ser-rich.|Transcription activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CTGCTGGAGTCAGATAAGTCA	0.617											OREG0025608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	17					0	0	0	0	G	49216571	C	G	49216571	3	3	15	1	0	0	0	0	1	0	0	0	9278	826	29	2	50	2	MAMSTR	19	49216571	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	7585906	49216571	9912412	161	3320											
LILRB4	11006	broad.mit.edu	37	chr19	55179390	55179390	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctttaccctcagacagAaggcaactgagcctcctcca	12	7	7	15	0	1	3	1	1	0	2	3	3	3	3	4	1	4	2	4	1	3	2	rs534751		TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:55179390A>G	ENST00000391736.1	+	14	1582	c.1267A>G	c.(1267-1269)Aag>Gag	p.K423E	LILRB4_ENST00000270452.2_Missense_Mutation_p.K423E|LILRB4_ENST00000391733.3_Missense_Mutation_p.K424E|LILRB4_ENST00000430952.2_Missense_Mutation_p.K422E|LILRB4_ENST00000391734.3_Missense_Mutation_p.K370E	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	423						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCTCAGACAGAAGGCAACTGA	0.622													5	133					0	0	0	0	G	55179390	A	G	55179390	3	3	15	1	0	0	0	0	1	0	0	0	8847	247	9	5	1313	5	LILRB4	19	55179390	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	5962819	55179390	3949593	162	3321											
ZNF446	55663	broad.mit.edu	37	chr19	58988810	58988810	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgctggagcagttcctGggcacactgcctcccgagat	6	9	13	13	1	0	1	0	0	0	1	2	3	2	2	3	3	3	4	3	3	0	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:58988810G>C	ENST00000596341.1	+	2	2445	c.225G>C	c.(223-225)ctG>ctC	p.L75L	ZNF446_ENST00000594369.1_Silent_p.L75L|ZNF446_ENST00000335841.4_Silent_p.L75L			Q9NWS9	ZN446_HUMAN	zinc finger protein 446	75	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGCAGTTCCTGGGCACACTGC	0.662													28	45					0	0	0	0	C	58988810	G	C	58988810	2	2	15	1	0	0	0	0	0	0	0	1	18014	1335	47	4		4	ZNF446	19	58988810	Silent	SNP	G	TCGA-BA-6868-01B-12D-1912-08	3809420	58988810	140173	163	3322											
CDC25B	994	broad.mit.edu	37	chr20	3782640	3782640	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccctgcagcgtgatccggCccatcctcaagaggctggag	7	7	13	14	2	1	2	1	1	0	1	3	3	3	3	4	3	3	2	4	3	1	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr20:3782640C>G	ENST00000245960.5	+	10	1688	c.991C>G	c.(991-993)Ccc>Gcc	p.P331A	CDC25B_ENST00000439880.2_Missense_Mutation_p.P317A|CDC25B_ENST00000340833.4_Missense_Mutation_p.P290A|CDC25B_ENST00000344256.6_Missense_Mutation_p.P267A|CDC25B_ENST00000379598.5_Missense_Mutation_p.P240A|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	331					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						CGTGATCCGGCCCATCCTCAA	0.652													3	12					0	0	0	0	G	3782640	C	G	3782640	3	3	15	1	0	0	0	0	1	0	0	0	3092	739	26	4	1029	4	CDC25B	20	3782640	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08		3782640	59242880	164	3323											
AHCY	191	broad.mit.edu	37	chr20	32879320	32879320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccccagtcgtggtctcctCagagatgcctcggatgccta	7	9	11	14	2	2	1	1	0	1	1	5	4	2	2	5	2	2	0	5	2	1	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr20:32879320C>T	ENST00000538132.1	-	5	765	c.379G>A	c.(379-381)Gag>Aag	p.E127K	AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000217426.2_Missense_Mutation_p.E155K	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	155					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTGGTCTCCTCAGAGATGCCT	0.527													30	88					0	0	0	0	T	32879320	C	T	32879320	3	4	15	1	0	0	0	0	1	0	0	0	409	835	29	2	859	2	AHCY	20	32879320	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	29096680	32879320	30146200	165	3324											
PCIF1	63935	broad.mit.edu	37	chr20	44571864	44571864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccatgtttcgtgaaatcAtgaacgacattcctatcagg	11	13	7	10	2	2	2	2	2	0	0	5	3	4	2	2	1	1	1	2	1	3	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr20:44571864A>G	ENST00000372409.3	+	8	1166	c.802A>G	c.(802-804)Atg>Gtg	p.M268V		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	268						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TCGTGAAATCATGAACGACAT	0.537													24	128					0	0	0	0	G	44571864	A	G	44571864	3	3	15	1	0	0	0	0	1	0	0	0	11651	217	8	5	824	5	PCIF1	20	44571864	Missense_Mutation	SNP	A	TCGA-BA-6868-01B-12D-1912-08	11692544	44571864	18453656	166	3325											
TPTE	7179	broad.mit.edu	37	chr21	10933918	10933918	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccatccactcatttacttCcttggtgaaaaccaccatct	11	12	4	14	0	2	1	1	1	1	0	4	1	4	1	5	1	3	0	5	1	3	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr21:10933918C>A	ENST00000298232.7	-	16	1274	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	TPTE_ENST00000342420.5_Nonsense_Mutation_p.E283*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Nonsense_Mutation_p.E321*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	321	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATTTACTTCCTTGGTGAAA	0.333													51	315					1.48341e-19	2.03227e-19	1	0	A	10933918	C	A	10933918	4	1	15	1	0	0	0	0	0	1	0	0	16525	864	30	2	726	2	TPTE	21	10933918	Nonsense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08		10933918	37195977	167	3326											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343													5	106					0	0	0	0	C	11058353	T	C	11058353	1	2	15	0	1	0	0	0	0	0	0	0	1296	1769	61	5		5	BAGE2	21	11058353	RNA	SNP	T	TCGA-BA-6868-01B-12D-1912-08	124435	11058353	37071542	168	3327											
PCNT	5116	broad.mit.edu	37	chr21	47817314	47817314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacagctgtctcagcatcGcgggtgtgccaagcaggcgg	9	6	15	11	3	1	1	1	0	1	1	3	1	1	1	1	3	5	3	1	3	2	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr21:47817314G>A	ENST00000359568.5	+	22	4459	c.4352G>A	c.(4351-4353)cGc>cAc	p.R1451H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1451					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCTCAGCATCGCGGGTGTGCC	0.567													29	23					0	0	0	0	A	47817314	G	A	47817314	3	1	15	1	0	0	0	0	1	0	0	0	11661	1087	38	1	4438	1	PCNT	21	47817314	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	36758961	47817314	312581	169	3328											
ZNF280B	140883	broad.mit.edu	37	chr22	22843615	22843615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcatcttcatttacatGttccacaccaacaaagatga	14	11	4	12	0	3	2	2	1	1	1	4	2	4	2	2	0	3	2	2	0	3	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr22:22843615G>T	ENST00000360412.2	-	4	884	c.109C>A	c.(109-111)Cat>Aat	p.H37N	ZNF280B_ENST00000406426.1_Missense_Mutation_p.H37N	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TCATTTACATGTTCCACACCA	0.418													31	68					3.80469e-20	5.23862e-20	1	0	T	22843615	G	T	22843615	3	4	15	1	0	0	0	0	1	0	0	0	17910	1377	48	4	1526	4	ZNF280B	22	22843615	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08		22843615	28460951	170	3329											
SLC2A11	66035	broad.mit.edu	37	chr22	24224830	24224830	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagctctgcgggaatgaCtcggtgagacccctgccccg	7	7	14	13	3	1	2	0	2	1	1	2	5	1	4	4	3	3	1	4	3	1	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr22:24224830C>T	ENST00000345044.6	+	7	1138	c.870C>T	c.(868-870)gaC>gaT	p.D290D	SLC2A11_ENST00000467660.1_3'UTR|AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000398356.2_Silent_p.D297D|SLC2A11_ENST00000316185.8_Silent_p.D293D			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	290						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GCGGGAATGACTCGGTGAGAC	0.687													4	15					0	0	0	0	T	24224830	C	T	24224830	2	4	15	1	0	0	0	0	0	0	0	1	14628	564	20	4		4	SLC2A11	22	24224830	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08	1381215	24224830	27079736	171	3330											
MYO18B	84700	broad.mit.edu	37	chr22	26159338	26159338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaggaagcagttagctgtCgcctctccagaacgagaggt	11	7	13	10	2	1	3	0	0	1	3	3	5	1	4	2	2	3	3	2	2	3	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr22:26159338C>T	ENST00000335473.7	+	3	430	c.180C>T	c.(178-180)gtC>gtT	p.V60V	MYO18B_ENST00000407587.2_Silent_p.V60V|MYO18B_ENST00000536101.1_Silent_p.V60V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	60						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGTTAGCTGTCGCCTCTCCAG	0.512													13	13					0	0	0	0	T	26159338	C	T	26159338	2	4	15	1	0	0	0	0	0	0	0	1	10136	871	31	1		1	MYO18B	22	26159338	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08	1934508	26159338	25145228	172	3331											
MYO18B	84700	broad.mit.edu	37	chr22	26423316	26423316	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gacacctacctccttggctgGatcagccaaaggtgggcaag	10	7	12	12	0	1	0	1	0	0	0	2	2	2	1	4	4	2	2	4	4	3	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr22:26423316G>C	ENST00000335473.7	+	43	7626	c.7376G>C	c.(7375-7377)gGa>gCa	p.G2459A	MYO18B_ENST00000407587.2_Missense_Mutation_p.G2460A|MYO18B_ENST00000536101.1_Missense_Mutation_p.G2459A	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2459						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCCTTGGCTGGATCAGCCAAA	0.532													56	83					0	0	0	0	C	26423316	G	C	26423316	3	2	15	1	0	0	0	0	1	0	0	0	10136	1174	41	2	7542	2	MYO18B	22	26423316	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	263978	26423316	24881250	173	3332											
MIOX	55586	broad.mit.edu	37	chr22	50926457	50926457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagacagcggagggcatccGgaaggcccacccagacaagg	12	1	14	14	2	0	2	0	0	0	2	1	4	1	4	4	5	1	1	4	5	2	0			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr22:50926457G>A	ENST00000395732.3	+	4	342	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	MIOX_ENST00000216075.6_Missense_Mutation_p.R107Q|MIOX_ENST00000395733.3_Missense_Mutation_p.R107Q			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	107					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGGCATCCGGAAGGCCCAC	0.652													15	46					0	0	0	0	A	50926457	G	A	50926457	3	1	15	1	0	0	0	0	1	0	0	0	9659	1116	39	1	334	1	MIOX	22	50926457	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	24503141	50926457	378109	174	3333											
MXRA5	25878	broad.mit.edu	37	chrX	3241328	3241328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaatcaatgggggtacttCtgtgcccttagggagatttt	8	16	11	6	0	2	1	1	0	1	1	2	2	2	1	1	3	2	1	1	3	4	7			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chrX:3241328C>T	ENST00000217939.6	-	5	2552	c.2398G>A	c.(2398-2400)Gaa>Aaa	p.E800K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	800						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGGGTACTTCTGTGCCCTTA	0.468													27	16					0	0	0	0	T	3241328	C	T	3241328	3	4	15	1	0	0	0	0	1	0	0	0	10073	922	32	2	6100	2	MXRA5	23	3241328	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08		3241328	152029232	175	3334											
FRMPD4	9758	broad.mit.edu	37	chrX	12701691	12701691	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctctgaggaggtcatcatCaacggccaagtgtcggtgag	9	10	13	9	2	4	2	3	2	1	0	6	3	4	3	1	4	1	0	1	4	2	1			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chrX:12701691C>T	ENST00000380682.1	+	6	1064	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	186					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGTCATCATCAACGGCCAAG	0.443													19	8					0	0	0	0	T	12701691	C	T	12701691	2	4	15	1	0	0	0	0	0	0	0	1	6107	816	29	2		2	FRMPD4	23	12701691	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08	9460363	12701691	142568869	176	3335											
GPR64	10149	broad.mit.edu	37	chrX	19022962	19022962	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatgaacgtcagagccatCatttgagcaggcagcacaga	14	7	11	9	1	2	4	2	2	0	2	2	4	2	4	1	1	4	4	1	1	2	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chrX:19022962C>A	ENST00000379878.3	-	22	2068	c.1827G>T	c.(1825-1827)atG>atT	p.M609I	GPR64_ENST00000360279.4_Missense_Mutation_p.M603I|GPR64_ENST00000379869.3_Missense_Mutation_p.M625I|GPR64_ENST00000340581.3_Missense_Mutation_p.M506I|GPR64_ENST00000357991.3_Missense_Mutation_p.M622I|GPR64_ENST00000357544.3_Missense_Mutation_p.M595I|GPR64_ENST00000379873.2_Missense_Mutation_p.M625I|GPR64_ENST00000356606.4_Missense_Mutation_p.M611I|GPR64_ENST00000379876.1_Missense_Mutation_p.M601I|GPR64_ENST00000354791.3_Missense_Mutation_p.M609I	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	625	GPS.				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TCAGAGCCATCATTTGAGCAG	0.338													84	31					1.79992e-35	2.54215e-35	1	0	A	19022962	C	A	19022962	3	1	15	1	0	0	0	0	1	0	0	0	6754	826	29	2	1206	2	GPR64	23	19022962	Missense_Mutation	SNP	C	TCGA-BA-6868-01B-12D-1912-08	6321271	19022962	136247598	177	3336											
P2RY10	27334	broad.mit.edu	37	chrX	78216656	78216656	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtgatcccagtgatcatCatcgcatggtgtacctggaa	9	13	10	9	1	2	2	2	2	0	0	4	3	3	3	2	2	1	2	2	2	2	2			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chrX:78216656C>T	ENST00000171757.2	+	4	919	c.639C>T	c.(637-639)atC>atT	p.I213I	P2RY10_ENST00000544091.1_Silent_p.I213I	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	213						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CAGTGATCATCATCGCATGGT	0.478													38	13					0	0	0	0	T	78216656	C	T	78216656	2	4	15	1	0	0	0	0	0	0	0	1	11418	816	29	2		2	P2RY10	23	78216656	Silent	SNP	C	TCGA-BA-6868-01B-12D-1912-08	59193694	78216656	77053904	178	3337											
IRS4	8471	broad.mit.edu	37	chrX	107977584	107977584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctttgcattctttcGtggctcctctgtcaacacaa	6	16	7	12	1	4	0	1	0	3	0	6	0	5	0	1	2	2	3	1	2	2	4			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chrX:107977584G>A	ENST00000372129.2	-	1	2067	c.1991C>T	c.(1990-1992)aCg>aTg	p.T664M		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	664						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCATTCTTTCGTGGCTCCTCT	0.512													219	77					0	0	0	0	A	107977584	G	A	107977584	3	1	15	1	0	0	0	0	1	0	0	0	7895	1145	40	1	1786	1	IRS4	23	107977584	Missense_Mutation	SNP	G	TCGA-BA-6868-01B-12D-1912-08	29760928	107977584	47292976	179	3338											
ATAD3B	83858	broad.mit.edu	37	chr1	1430870	1430870	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctcttcactaggccacGgcatatgcctccaaggacgg	8	9	9	15	2	3	0	1	0	2	0	5	1	4	1	3	4	1	1	3	4	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:1430870G>A	ENST00000308647.7	+	16	1736	c.1620G>A	c.(1618-1620)acG>acA	p.T540T		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	540							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACTAGGCCACGGCATATGCCT	0.632													23	15					0	0	0	0	A	1430870	G	A	1430870	2	1	16	1	0	0	0	0	0	0	0	1	1078	1103	39	1		1	ATAD3B	1	1430870	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08		1430870	247819751	1	3339											
SLC35E2	9906	broad.mit.edu	37	chr1	1670363	1670363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccaggagattctttacctCatcagacccacaaacagcat	15	8	5	13	0	3	2	2	0	1	2	3	3	3	2	3	1	4	1	3	1	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:1670363C>T	ENST00000355439.2	-	4	1216	c.456G>A	c.(454-456)atG>atA	p.M152I	SLC35E2_ENST00000400924.1_Missense_Mutation_p.M152I|SLC35E2_ENST00000246421.4_Missense_Mutation_p.M152I	NM_001199787.1	NP_001186716.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	152						integral to membrane				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTCTTTACCTCATCAGACCCA	0.473													8	28					0	0	0	0	T	1670363	C	T	1670363	3	4	16	1	0	0	0	0	1	0	0	0	14673	826	29	2	1610	2	SLC35E2	1	1670363	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	239493	1670363	247580258	2	3340											
AJAP1	55966	broad.mit.edu	37	chr1	4772252	4772252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccacaggccccgggaccagGcggccgccctcgtgcccaag	6	2	13	20	4	0	0	0	0	0	0	1	1	0	1	7	4	1	0	7	4	1	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:4772252G>C	ENST00000378191.4	+	2	703	c.322G>C	c.(322-324)Gcg>Ccg	p.A108P	AJAP1_ENST00000378190.3_Missense_Mutation_p.A108P	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	108					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCGGGACCAGGCGGCCGCCCT	0.736													2	7					0	0	0	0	C	4772252	G	C	4772252	3	2	16	1	0	0	0	0	1	0	0	0	438	1203	42	4	328	4	AJAP1	1	4772252	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3101889	4772252	244478369	3	3341											
CAMTA1	23261	broad.mit.edu	37	chr1	7723703	7723703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtccatcagcagcgggCtcaacagcgacccggacatg	9	6	12	14	3	2	0	2	0	0	0	3	2	3	1	2	2	4	2	2	2	1	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:7723703C>A	ENST00000303635.7	+	9	1303	c.1096C>A	c.(1096-1098)Ctc>Atc	p.L366I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.L366I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGCAGCGGGCTCAACAGCGA	0.662			T	WWTR1	epitheliod hemangioendothelioma								33	60					1.04352e-10	1.26487e-10	1	0	A	7723703	C	A	7723703	3	1	16	1	0	0	0	0	1	0	0	0	2638	797	28	4	1130	4	CAMTA1	1	7723703	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2951451	7723703	241526918	4	3342											
KIAA2013	90231	broad.mit.edu	37	chr1	11982754	11982754	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgtagatgagcttgaagAggaagaggtggaagagggtg	12	8	19	2	1	0	6	0	2	0	4	0	8	0	8	0	4	1	3	0	4	4	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:11982754A>C	ENST00000376572.3	-	2	2011	c.1826T>G	c.(1825-1827)cTc>cGc	p.L609R	KIAA2013_ENST00000376576.3_Missense_Mutation_p.L609R	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	609						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTTGAAGAGGAAGAGGTG	0.597													10	20					0	0	0	0	C	11982754	A	C	11982754	3	2	16	1	0	0	0	0	1	0	0	0	8318	304	11	5	86	5	KIAA2013	1	11982754	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	4259051	11982754	237267867	5	3343											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854287	12854287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagatacctcttccagtggGtttaccaaaggagaggttta	11	12	11	7	0	1	2	0	1	1	2	2	4	2	2	3	3	2	2	3	3	4	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:12854287G>A	ENST00000332296.7	+	3	614	c.511G>A	c.(511-513)Gtt>Att	p.V171I		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	171										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCAGTGGGTTTACCAAAG	0.433													83	283					0	0	0	0	A	12854287	G	A	12854287	3	1	16	1	0	0	0	0	1	0	0	0	12501	1261	44	4	517	4	PRAMEF1	1	12854287	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	871533	12854287	236396334	6	3344											
CLCNKB	1188	broad.mit.edu	37	chr1	16378026	16378026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctgccgggtacttcatGcccatctttgtctatggtga	6	14	10	11	1	3	1	1	1	2	0	3	1	3	1	3	2	4	1	3	2	2	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:16378026G>T	ENST00000375679.4	+	13	1392	c.1281G>T	c.(1279-1281)atG>atT	p.M427I	CLCNKB_ENST00000375667.3_Missense_Mutation_p.M258I	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGTACTTCATGCCCATCTTTG	0.592													48	104					1.65492e-34	2.5278e-34	1	0	T	16378026	G	T	16378026	3	4	16	1	0	0	0	0	1	0	0	0	3500	1319	46	4	1475	4	CLCNKB	1	16378026	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3523739	16378026	232872595	7	3345											
CAPZB	832	broad.mit.edu	37	chr1	19671737	19671737	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcagtcactcacagtttcatCcttctccatctgcaaaagac	11	11	5	14	0	5	1	3	0	2	1	7	1	6	1	2	0	1	3	2	0	2	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:19671737C>G	ENST00000264203.3	-	8	1169	c.676G>C	c.(676-678)Gat>Cat	p.D226H	CAPZB_ENST00000375142.1_Missense_Mutation_p.D200H|CAPZB_ENST00000264202.6_Missense_Mutation_p.D200H|CAPZB_ENST00000433834.1_Missense_Mutation_p.D229H|CAPZB_ENST00000401084.2_Missense_Mutation_p.D200H|CAPZB_ENST00000375144.1_Missense_Mutation_p.D188H			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	200					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		ACAGTTTCATCCTTCTCCATC	0.557													4	110					0	0	0	0	G	19671737	C	G	19671737	3	3	16	1	0	0	0	0	1	0	0	0	2668	855	30	2	232	2	CAPZB	1	19671737	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	3293711	19671737	229578884	8	3346											
CNKSR1	10256	broad.mit.edu	37	chr1	26510929	26510929	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgagcccctgcccatcccCccggaacccccagccatact	7	5	6	23	1	0	1	0	1	0	0	1	2	1	2	10	1	5	0	10	1	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:26510929C>T	ENST00000531191.1	+	11	1271	c.264C>T	c.(262-264)ccC>ccT	p.P88P	CNKSR1_ENST00000361530.6_Silent_p.P346P|CNKSR1_ENST00000374253.5_Silent_p.P353P			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	353	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCCATCCCCCCGGAACCCC	0.637													13	17					0	0	0	0	T	26510929	C	T	26510929	2	4	16	1	0	0	0	0	0	0	0	1	3636	610	22	4		4	CNKSR1	1	26510929	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	6839192	26510929	222739692	9	3347											
MATN1	4146	broad.mit.edu	37	chr1	31187158	31187158	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttcaccagggactcgcaGgcacacgggtcttcctctgc	8	9	10	14	2	3	0	1	0	2	0	5	1	4	1	2	3	1	2	2	3	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:31187158G>A	ENST00000373765.4	-	7	1412	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A		NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	459					protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACTCGCAGGCACACGGGT	0.627													4	13					0	0	0	0	A	31187158	G	A	31187158	2	1	16	1	0	0	0	0	0	0	0	1	9402	987	35	4		4	MATN1	1	31187158	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	4676229	31187158	218063463	10	3348											
SPOCD1	90853	broad.mit.edu	37	chr1	32267266	32267266	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaaatgtaaaaacctacgTagcacacaagcttcactcca	18	8	4	11	1	1	0	1	0	0	0	2	0	2	0	2	0	4	4	2	0	8	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:32267266T>C	ENST00000360482.2	-	3	1553	c.1425_splice	c.e3+1	p.Y475_splice	SPOCD1_ENST00000533231.1_Splice_Site_p.Y475_splice|SPOCD1_ENST00000257100.3_5'UTR|SPOCD1_ENST00000373648.2_Splice_Site_p.Y475_splice	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	475					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AAAACCTACGTAGCACACAAG	0.507													22	57					0	0	0	0	C	32267266	T	C	32267266	5	2	16	1	0	0	0	0	0	0	1	0	15168	1652	57	5	2282	5	SPOCD1	1	32267266	Splice_Site	SNP	T	TCGA-BA-6869-01A-11D-1870-08	1080108	32267266	216983355	11	3349											
TIE1	7075	broad.mit.edu	37	chr1	43772569	43772569	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcggttcctgctgcaGctcccaaatgtgcagccacc	7	8	12	14	1	0	0	0	0	0	0	2	1	2	0	4	2	5	5	4	2	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:43772569G>C	ENST00000372476.3	+	4	622	c.543G>C	c.(541-543)caG>caC	p.Q181H	TIE1_ENST00000538015.1_Missense_Mutation_p.Q181H|TIE1_ENST00000441333.2_Missense_Mutation_p.Q181H	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	181					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCTGCTGCAGCTCCCAAATG	0.607													18	46					0	0	0	0	C	43772569	G	C	43772569	3	2	16	1	0	0	0	0	1	0	0	0	15987	962	34	4	557	4	TIE1	1	43772569	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	11505303	43772569	205478052	12	3350											
CC2D1B	200014	broad.mit.edu	37	chr1	52826198	52826198	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgttcctccagcaaagcGtgtagcccctgagatgctcc	8	9	9	15	2	0	1	0	1	0	1	4	2	4	1	6	0	4	4	6	0	2	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:52826198G>A	ENST00000438831.1	-	0	638				CC2D1B_ENST00000284376.3_Silent_p.H167H|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000371586.2_Silent_p.H167H			Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B											breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CCAGCAAAGCGTGTAGCCCCT	0.632													11	23					0	0	0	0	A	52826198	G	A	52826198	1	1	16	1	0	0	0	0	0	0	0	0	2752	1136	40	1		1	CC2D1B	1	52826198	Translation_Start_Site	SNP	G	TCGA-BA-6869-01A-11D-1870-08	9053629	52826198	196424423	13	3351											
LRRC7	57554	broad.mit.edu	37	chr1	70300502	70300502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcctaaacctgacccaGctctacctgaatgacgcctt	10	9	6	16	1	1	3	0	3	1	0	2	3	2	3	5	0	4	2	5	0	4	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:70300502G>T	ENST00000310961.5	+	7	859	c.441G>T	c.(439-441)caG>caT	p.Q147H	LRRC7_ENST00000035383.5_Missense_Mutation_p.Q142H|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.Q180H			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	142						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACCTGACCCAGCTCTACCTGA	0.358													23	47					6.21321e-17	8.44258e-17	1	0	T	70300502	G	T	70300502	3	4	16	1	0	0	0	0	1	0	0	0	9084	962	34	4	440	4	LRRC7	1	70300502	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	17474304	70300502	178950119	14	3352											
C1orf173	127254	broad.mit.edu	37	chr1	75097586	75097586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgaattgcctatggagttCctgaacttcatcactgcctt	8	15	8	10	0	2	2	2	2	0	0	3	3	3	3	3	1	3	1	3	1	3	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:75097586C>A	ENST00000326665.5	-	7	848	c.630G>T	c.(628-630)agG>agT	p.R210S	C1orf173_ENST00000420661.2_Missense_Mutation_p.R13S	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	210										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						CTATGGAGTTCCTGAACTTCA	0.393													39	51					1.47244e-24	2.15152e-24	1	0	A	75097586	C	A	75097586	3	1	16	1	0	0	0	0	1	0	0	0	2033	854	30	2	3994	2	C1orf173	1	75097586	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	4797084	75097586	174153035	15	3353											
FAM73A	374986	broad.mit.edu	37	chr1	78332059	78332059	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtcggtgctgaaacagAaaagacaacagatgaaggta	16	7	13	5	1	0	5	0	2	0	3	1	5	0	5	0	3	3	3	0	3	6	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:78332059A>T	ENST00000370791.3	+	14	1578	c.1546A>T	c.(1546-1548)Aaa>Taa	p.K516*	FAM73A_ENST00000443751.2_Nonsense_Mutation_p.K478*	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	516						integral to membrane		p.R517fs*19(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GCTGAAACAGAAAAGACAACA	0.353													28	69					0	0	0	0	T	78332059	A	T	78332059	4	4	16	1	0	0	0	0	0	1	0	0	5663	247	9	5	1600	5	FAM73A	1	78332059	Nonsense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	3234473	78332059	170918562	16	3354											
LPHN2	23266	broad.mit.edu	37	chr1	82416749	82416749	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccactggaacatggaaccctAagggccccgatcttagcaac	12	6	9	14	1	1	0	0	0	1	0	1	3	1	2	4	3	4	1	4	3	5	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:82416749A>G	ENST00000370728.1	+	10	2185	c.1540A>G	c.(1540-1542)Aag>Gag	p.K514E	LPHN2_ENST00000319517.6_Missense_Mutation_p.K514E|LPHN2_ENST00000370717.2_Missense_Mutation_p.K514E|LPHN2_ENST00000370713.1_Missense_Mutation_p.K514E|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.K514E|LPHN2_ENST00000370721.1_Missense_Mutation_p.K452E|LPHN2_ENST00000370723.1_Missense_Mutation_p.K514E|LPHN2_ENST00000370715.1_Missense_Mutation_p.K514E|LPHN2_ENST00000370725.1_Missense_Mutation_p.K514E|LPHN2_ENST00000335786.5_Missense_Mutation_p.K514E|LPHN2_ENST00000370727.1_Missense_Mutation_p.K514E|LPHN2_ENST00000359929.3_Missense_Mutation_p.K514E|LPHN2_ENST00000394879.1_Missense_Mutation_p.K514E|LPHN2_ENST00000370730.1_Missense_Mutation_p.K514E			O95490	LPHN2_HUMAN	latrophilin 2	514					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGGAACCCTAAGGGCCCCGA	0.438													29	67					0	0	0	0	G	82416749	A	G	82416749	3	3	16	1	0	0	0	0	1	0	0	0	8980	363	13	5	1562	5	LPHN2	1	82416749	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	4084690	82416749	166833872	17	3355											
CLCA1	1179	broad.mit.edu	37	chr1	86961284	86961284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaagtgcgggctctgggagGagttaacgcagccagacgga	12	5	16	8	3	1	1	0	0	1	1	1	4	1	4	1	4	3	3	1	4	3	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:86961284G>A	ENST00000234701.3	+	13	2390	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E	CLCA1_ENST00000394711.1_Missense_Mutation_p.G680E			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	680					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	p.G680E(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCTCTGGGAGGAGTTAACGCA	0.463													22	40					0	0	0	0	A	86961284	G	A	86961284	3	1	16	1	0	0	0	0	1	0	0	0	3487	1174	41	2	2085	2	CLCA1	1	86961284	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	4544535	86961284	162289337	18	3356											
EVI5	7813	broad.mit.edu	37	chr1	93167773	93167773	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctactaaagagtaagcCtaaaaagtaaaaaaaagttg	21	8	7	5	1	1	1	0	0	1	1	1	2	1	1	1	0	2	3	1	0	11	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:93167773C>A	ENST00000370331.1	-	5	706		c.e5-1		EVI5_ENST00000540033.1_Splice_Site|EVI5_ENST00000543509.1_Splice_Site	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5						cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAGAGTAAGCCTAAAAAGTAA	0.303													15	21					1.05317e-09	1.2482e-09	1	0	A	93167773	C	A	93167773	5	1	16	1	0	0	0	0	0	0	1	0	5327	695	24	4	1792	4	EVI5	1	93167773	Splice_Site	SNP	C	TCGA-BA-6869-01A-11D-1870-08	6206489	93167773	156082848	19	3357											
GNAI3	2773	broad.mit.edu	37	chr1	110129355	110129355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttatttctttttcagaaccGaatgcatgaaagcatgaaac	14	14	6	7	1	2	3	1	2	1	1	2	4	2	3	1	0	4	2	1	0	5	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:110129355G>A	ENST00000369851.4	+	7	835	c.725G>A	c.(724-726)cGa>cAa	p.R242Q		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	242					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TTTCAGAACCGAATGCATGAA	0.318													16	26					0	0	0	0	A	110129355	G	A	110129355	3	1	16	1	0	0	0	0	1	0	0	0	6557	1058	37	1	751	1	GNAI3	1	110129355	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	16961582	110129355	139121266	20	3358											
TBX15	6913	broad.mit.edu	37	chr1	119474346	119474346	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccatggaagacatggcAgcaggcacagggcctgcagc	10	5	13	13	0	0	1	0	0	0	1	2	2	2	2	3	4	3	4	3	4	1	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:119474346A>T	ENST00000369429.3	-	2	324	c.315T>A	c.(313-315)gcT>gcA	p.A105A	TBX15_ENST00000207157.3_5'UTR			Q96SF7	TBX15_HUMAN	T-box 15	105						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AAGACATGGCAGCAGGCACAG	0.537													13	27					0	0	0	0	T	119474346	A	T	119474346	2	4	16	1	0	0	0	0	0	0	0	1	15746	203	7	5		5	TBX15	1	119474346	Silent	SNP	A	TCGA-BA-6869-01A-11D-1870-08	9344991	119474346	129776275	21	3359											
WARS2	10352	broad.mit.edu	37	chr1	119575893	119575893	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactatctcctctgggctgtCtgttattcggacggtggcca	5	13	11	12	2	3	0	0	0	3	0	5	1	3	1	2	4	0	2	2	4	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:119575893C>A	ENST00000235521.4	-	6	750	c.724G>T	c.(724-726)Gac>Tac	p.D242Y	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.D148Y	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	242					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TCTGGGCTGTCTGTTATTCGG	0.517													50	91					4.01344e-20	5.59608e-20	1	0	A	119575893	C	A	119575893	3	1	16	1	0	0	0	0	1	0	0	0	17346	913	32	2	362	2	WARS2	1	119575893	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	101547	119575893	129674728	22	3360											
SNX27	81609	broad.mit.edu	37	chr1	151611499	151611499	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagatcccagtgacgactcGttgggacaatcattttatga	11	12	9	9	2	1	3	1	2	0	1	3	5	2	4	1	1	0	1	1	1	3	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:151611499G>T	ENST00000368843.3	+	2	567	c.447G>T	c.(445-447)tcG>tcT	p.S149S	SNX27_ENST00000458013.2_Silent_p.S149S|SNX27_ENST00000368838.1_Silent_p.S56S	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	149					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGACGACTCGTTGGGACAAT	0.468													25	53					1.64293e-13	2.11565e-13	1	0	T	151611499	G	T	151611499	2	4	16	1	0	0	0	0	0	0	0	1	14985	1132	40	3		3	SNX27	1	151611499	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	32035606	151611499	97639122	23	3361											
LINGO4	339398	broad.mit.edu	37	chr1	151774763	151774763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaacaatctggttgaggcGgaggtccagcagggtcagag	11	6	17	7	1	2	3	1	1	1	2	3	5	3	4	1	5	2	2	1	5	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:151774763G>A	ENST00000368820.3	-	2	1355	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	140						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGTTGAGGCGGAGGTCCAGC	0.582													35	69					0	0	0	0	A	151774763	G	A	151774763	3	1	16	1	0	0	0	0	1	0	0	0	8872	1116	39	1	1367	1	LINGO4	1	151774763	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	163264	151774763	97475858	24	3362											
FLG	2312	broad.mit.edu	37	chr1	152284331	152284331	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtccaccagaggaagtctCtgcgtgaggagttcctgatt	8	11	12	10	1	1	3	0	2	1	1	4	5	3	5	3	2	1	1	3	2	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:152284331C>G	ENST00000368799.1	-	3	3066	c.3031G>C	c.(3031-3033)Gag>Cag	p.E1011Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1011	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGTCTCTGCGTGAGGA	0.582									Ichthyosis				138	260					0	0	0	0	G	152284331	C	G	152284331	3	3	16	1	0	0	0	0	1	0	0	0	5967	922	32	2	9158	2	FLG	1	152284331	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	509568	152284331	96966290	25	3363											
OR10T2	128360	broad.mit.edu	37	chr1	158369186	158369186	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaaaagcagcagctggAgctcccccaggctggagaaa	14	4	12	11	0	0	2	0	1	0	1	1	4	1	3	2	3	4	5	2	3	3	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:158369186A>T	ENST00000334438.1	-	1	70	c.71T>A	c.(70-72)cTc>cAc	p.L24H		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CAGCAGCTGGAGCTCCCCCAG	0.483													11	29					0	0	0	0	T	158369186	A	T	158369186	3	4	16	1	0	0	0	0	1	0	0	0	10990	304	11	5	875	5	OR10T2	1	158369186	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	6084855	158369186	90881435	26	3364											
IGSF9	57549	broad.mit.edu	37	chr1	159898079	159898079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgtggaggggggccgcagGaacgaagcgctgcctcgccc	6	4	18	13	4	0	0	0	0	0	0	1	3	0	2	3	5	3	3	3	5	2	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:159898079G>A	ENST00000368094.1	-	19	3296	c.3099C>T	c.(3097-3099)ttC>ttT	p.F1033F	IGSF9_ENST00000361509.3_Silent_p.F1017F|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1033						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGCCGCAGGAACGAAGCGC	0.697													13	17					0	0	0	0	A	159898079	G	A	159898079	2	1	16	1	0	0	0	0	0	0	0	1	7658	1165	41	2		2	IGSF9	1	159898079	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1528893	159898079	89352542	27	3365											
FCGR3B	2215	broad.mit.edu	37	chr1	161599754	161599754	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaggctccctggcacttcaGagtcacactgtccttctcaa	8	11	8	14	0	3	1	3	0	1	1	6	1	5	1	2	2	0	3	2	2	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:161599754G>C	ENST00000294800.3	-	3	406	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.L81V|FCGR3B_ENST00000367964.2_Missense_Mutation_p.L45V	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	45	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGCACTTCAGAGTCACACTG	0.532													24	74					0	0	0	0	C	161599754	G	C	161599754	3	2	16	1	0	0	0	0	1	0	0	0	5830	933	33	2	580	2	FCGR3B	1	161599754	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1701675	161599754	87650867	28	3366											
PRRX1	5396	broad.mit.edu	37	chr1	170633413	170633413	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccggcgctgggcggccgCttggacagcccgggcaacct	6	4	15	16	5	0	0	0	0	0	0	0	1	0	1	4	5	3	3	4	5	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:170633413C>A	ENST00000239461.6	+	1	367	c.54C>A	c.(52-54)cgC>cgA	p.R18R	PRRX1_ENST00000367760.3_Silent_p.R18R|PRRX1_ENST00000497230.2_Silent_p.R18R	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	18						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGCGGCCGCTTGGACAGCC	0.662													14	19					6.31663e-08	7.20613e-08	1	0	A	170633413	C	A	170633413	2	1	16	1	0	0	0	0	0	0	0	1	12691	784	28	4		4	PRRX1	1	170633413	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	9033659	170633413	78617208	29	3367											
TNN	63923	broad.mit.edu	37	chr1	175092651	175092651	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgcgctacacctctgcTgacggagagaccagggaggt	9	7	15	10	2	1	2	0	1	1	1	1	5	1	4	2	4	3	2	2	4	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:175092651T>A	ENST00000239462.4	+	12	2879	c.2766T>A	c.(2764-2766)gcT>gcA	p.A922A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	922	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACACCTCTGCTGACGGAGAGA	0.597													17	59					0	0	0	0	A	175092651	T	A	175092651	2	1	16	1	0	0	0	0	0	0	0	1	16417	1567	55	5		5	TNN	1	175092651	Silent	SNP	T	TCGA-BA-6869-01A-11D-1870-08	4459238	175092651	74157970	30	3368											
PAPPA2	60676	broad.mit.edu	37	chr1	176526361	176526361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccggagggaggacagaacaaCccagccatcatcgcaggtaa	14	3	12	12	2	1	1	1	0	0	1	2	4	1	4	3	4	3	2	3	4	3	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:176526361C>A	ENST00000367662.3	+	2	2067	c.903C>A	c.(901-903)aaC>aaA	p.N301K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.N301K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	301					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GACAGAACAACCCAGCCATCA	0.577													4	13					0.000602214	0.000627715	1	0	A	176526361	C	A	176526361	3	1	16	1	0	0	0	0	1	0	0	0	11504	506	18	4	905	4	PAPPA2	1	176526361	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1433710	176526361	72724260	31	3369											
F13B	2165	broad.mit.edu	37	chr1	197030098	197030098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtcttctttcctccagCtgtgtagtagccagtagcac	6	14	8	13	0	3	0	0	0	3	0	5	0	5	0	3	0	3	5	3	0	3	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:197030098C>A	ENST00000367412.1	-	4	602	c.559G>T	c.(559-561)Gct>Tct	p.A187S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	187	Sushi 3.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTTCCTCCAGCTGTGTAGTAG	0.388													30	84					3.1745e-13	4.0715e-13	1	0	A	197030098	C	A	197030098	3	1	16	1	0	0	0	0	1	0	0	0	5379	797	28	4	1462	4	F13B	1	197030098	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	20503737	197030098	52220523	32	3370											
PTPRC	5788	broad.mit.edu	37	chr1	198687375	198687375	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttagaaatgagtcgcatAagaattgcgatttccgtgta	12	13	11	5	3	0	3	0	1	0	2	2	4	1	3	1	1	1	3	1	1	5	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:198687375A>G	ENST00000367376.2	+	14	1768	c.1597A>G	c.(1597-1599)Aag>Gag	p.K533E	PTPRC_ENST00000348564.6_Missense_Mutation_p.K374E|PTPRC_ENST00000442510.2_Missense_Mutation_p.K535E|PTPRC_ENST00000594404.1_Missense_Mutation_p.K372E|PTPRC_ENST00000352140.3_Missense_Mutation_p.K485E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	533	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGAGTCGCATAAGAATTGCGA	0.398													12	22					0	0	0	0	G	198687375	A	G	198687375	3	3	16	1	0	0	0	0	1	0	0	0	12879	363	13	5	1658	5	PTPRC	1	198687375	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	1657277	198687375	50563246	33	3371											
KIF21B	23046	broad.mit.edu	37	chr1	200954076	200954076	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgagtgggaggggatgatggGggtgtgaatcccacatctgt	8	9	18	6	1	1	2	0	2	1	0	2	5	2	4	1	5	0	0	1	5	1	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:200954076G>C	ENST00000332129.2	-	27	4030	c.3714C>G	c.(3712-3714)ccC>ccG	p.P1238P	KIF21B_ENST00000422435.2_Silent_p.P1238P|KIF21B_ENST00000461742.2_Silent_p.P1238P|KIF21B_ENST00000360529.5_Silent_p.P1238P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1238					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGGATGATGGGGGTGTGAATC	0.612													14	52					0	0	0	0	C	200954076	G	C	200954076	2	2	16	1	0	0	0	0	0	0	0	1	8340	1219	43	4		4	KIF21B	1	200954076	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2266701	200954076	48296545	34	3372											
AVPR1B	553	broad.mit.edu	37	chr1	206224591	206224591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctggtgctggcgaccgggGgcaacctggctgtgctgctg	3	9	17	12	2	0	0	0	0	0	0	1	1	1	0	3	5	4	5	3	5	1	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:206224591G>C	ENST00000367126.4	+	1	616	c.151G>C	c.(151-153)Ggc>Cgc	p.G51R		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	51					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGCGACCGGGGGCAACCTGGC	0.682													21	59					0	0	0	0	C	206224591	G	C	206224591	3	2	16	1	0	0	0	0	1	0	0	0	1236	1232	43	4	153	4	AVPR1B	1	206224591	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	5270515	206224591	43026030	35	3373											
IL24	11009	broad.mit.edu	37	chr1	207072725	207072725	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagatggttgtgctcccttgCctgggttttaccctgcttct	3	16	10	12	0	1	1	0	0	1	1	2	1	2	1	3	2	4	4	3	2	1	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:207072725C>A	ENST00000367093.3	+	3	382	c.108C>A	c.(106-108)tgC>tgA	p.C36*	IL24_ENST00000391929.3_Nonsense_Mutation_p.C36*|IL24_ENST00000491169.1_Intron|IL24_ENST00000294984.2_Nonsense_Mutation_p.C35*	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN	interleukin 24	35					apoptosis	extracellular space	cytokine activity			endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					TGCTCCCTTGCCTGGGTTTTA	0.592													22	46					1.1804e-14	1.55443e-14	1	0	A	207072725	C	A	207072725	4	1	16	1	0	0	0	0	0	1	0	0	7730	747	26	4	114	4	IL24	1	207072725	Nonsense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	848134	207072725	42177896	36	3374											
CR2	1380	broad.mit.edu	37	chr1	207649656	207649656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatagctcgattttctcctGgaatgtcaatcctgtacagc	10	13	7	11	1	2	0	1	0	1	0	5	2	3	1	2	1	3	2	2	1	4	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:207649656G>A	ENST00000367057.3	+	15	2983	c.2794G>A	c.(2794-2796)Gga>Aga	p.G932R	CR2_ENST00000367059.3_Intron|CR2_ENST00000367058.3_Missense_Mutation_p.G873R|CR2_ENST00000458541.2_Missense_Mutation_p.G846R	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	873	Sushi 15.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATTTTCTCCTGGAATGTCAAT	0.527													25	76					0	0	0	0	A	207649656	G	A	207649656	3	1	16	1	0	0	0	0	1	0	0	0	3872	1349	47	4	2852	4	CR2	1	207649656	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	576931	207649656	41600965	37	3375											
USH2A	7399	broad.mit.edu	37	chr1	215901506	215901506	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcaacagaactgaatgagCactcgtggcttgagcccaag	13	8	10	10	1	1	4	1	3	0	1	2	4	1	4	1	1	4	2	1	1	4	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:215901506C>G	ENST00000366943.2	-	61	12318	c.11932G>C	c.(11932-11934)Gct>Cct	p.A3978P	USH2A_ENST00000307340.3_Missense_Mutation_p.A3978P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3978	Fibronectin type-III 25.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTGAATGAGCACTCGTGGCT	0.488										HNSCC(13;0.011)			37	63					0	0	0	0	G	215901506	C	G	215901506	3	3	16	1	0	0	0	0	1	0	0	0	17132	710	25	4	3724	4	USH2A	1	215901506	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	8251850	215901506	33349115	38	3376											
USH2A	7399	broad.mit.edu	37	chr1	216019335	216019335	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggtagcagaactccaaaaAagtgtgtaatattcaacttc	16	10	8	7	0	1	1	1	0	0	1	3	2	2	1	1	1	3	3	1	1	8	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:216019335A>T	ENST00000366943.2	-	45	9272	c.8886T>A	c.(8884-8886)ctT>ctA	p.L2962L	USH2A_ENST00000307340.3_Silent_p.L2962L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2962	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACTCCAAAAAAGTGTGTAAT	0.398										HNSCC(13;0.011)			11	26					0	0	0	0	T	216019335	A	T	216019335	2	4	16	1	0	0	0	0	0	0	0	1	17132	1	1	5		5	USH2A	1	216019335	Silent	SNP	A	TCGA-BA-6869-01A-11D-1870-08	117829	216019335	33231286	39	3377											
FMN2	56776	broad.mit.edu	37	chr1	240255689	240255689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaggcgccggcggctccCgcgaagatgtactggattcc	8	6	15	12	5	0	1	0	0	0	1	2	4	2	3	3	5	1	2	3	5	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:240255689C>T	ENST00000319653.9	+	1	510	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	94					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGCGGCTCCCGCGAAGATGT	0.622													7	14					0	0	0	0	T	240255689	C	T	240255689	3	4	16	1	0	0	0	0	1	0	0	0	5995	652	23	1	282	1	FMN2	1	240255689	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	24236354	240255689	8994932	40	3378											
FMN2	56776	broad.mit.edu	37	chr1	240601394	240601394	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acggcatatttcttcatgaaAccaaaacttggagagaagga	16	9	9	7	1	2	2	1	1	1	1	2	5	2	4	1	3	2	1	1	3	5	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:240601394A>T	ENST00000319653.9	+	16	5174	c.4944A>T	c.(4942-4944)aaA>aaT	p.K1648N	FMN2_ENST00000545751.1_Missense_Mutation_p.K244N	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1648	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCTTCATGAAACCAAAACTTG	0.383													38	76					0	0	0	0	T	240601394	A	T	240601394	3	4	16	1	0	0	0	0	1	0	0	0	5995	40	2	5	5006	5	FMN2	1	240601394	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	345705	240601394	8649227	41	3379											
CEP170	9859	broad.mit.edu	37	chr1	243289810	243289810	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgaatctattgaaatgtaTactgaaatcagcctcagatt	14	14	7	6	0	3	4	2	3	1	1	3	4	3	4	1	0	2	2	1	0	6	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:243289810T>C	ENST00000366542.1	-	20	4747	c.4696A>G	c.(4696-4698)Ata>Gta	p.I1566V	CEP170_ENST00000490813.1_Missense_Mutation_p.I275V|CEP170_ENST00000366543.1_Missense_Mutation_p.I1442V|CEP170_ENST00000366544.1_Missense_Mutation_p.I1468V|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000481987.1_Missense_Mutation_p.I302V	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1566	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTGAAATGTATACTGAAATCA	0.438													9	16					0	0	0	0	C	243289810	T	C	243289810	3	2	16	1	0	0	0	0	1	0	0	0	3279	1406	49	5	62	5	CEP170	1	243289810	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	2688416	243289810	5960811	42	3380											
OR11L1	391189	broad.mit.edu	37	chr1	248004808	248004808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcatgaggaaggggtagcGgagtgggctgcagatggcca	10	6	19	6	1	0	2	0	1	0	1	0	4	0	4	1	6	3	4	1	6	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:248004808G>T	ENST00000355784.2	-	1	446	c.391C>A	c.(391-393)Cgc>Agc	p.R131S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R131S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGGGTAGCGGAGTGGGCTG	0.587													12	29					5.50884e-06	5.98583e-06	1	0	T	248004808	G	T	248004808	3	4	16	1	0	0	0	0	1	0	0	0	11001	1116	39	3	581	3	OR11L1	1	248004808	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	4714998	248004808	1245813	43	3381											
OR11L1	391189	broad.mit.edu	37	chr1	248005080	248005080	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgatgacaacattccctAtaatggtcaggcagtagatg	13	11	10	7	0	1	4	1	3	0	1	2	4	2	4	1	2	1	2	1	2	4	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:248005080A>G	ENST00000355784.2	-	1	174	c.119T>C	c.(118-120)aTa>aCa	p.I40T		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACATTCCCTATAATGGTCAG	0.502													14	28					0	0	0	0	G	248005080	A	G	248005080	3	3	16	1	0	0	0	0	1	0	0	0	11001	449	16	5	853	5	OR11L1	1	248005080	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	272	248005080	1245541	44	3382											
OR2T11	127077	broad.mit.edu	37	chr1	248790416	248790416	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagggtgaagtcagaggatGatgtgttcgtcattgatatg	10	12	16	3	1	2	4	2	3	0	1	3	6	2	6	0	3	0	1	0	3	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:248790416G>C	ENST00000330803.2	-	1	75	c.14C>G	c.(13-15)tCa>tGa	p.S5*		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCAGAGGATGATGTGTTCGT	0.547													17	44					0	0	0	0	C	248790416	G	C	248790416	4	2	16	1	0	0	0	0	0	1	0	0	11089	1294	45	2	940	2	OR2T11	1	248790416	Nonsense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	785336	248790416	460205	45	3383											
OR2T27	403239	broad.mit.edu	37	chr1	248813780	248813780	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagatcttgcggctcaTgaggacaggatagtgcagag	11	7	14	9	1	2	3	1	1	1	2	2	5	2	5	1	3	3	3	1	3	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:248813780T>A	ENST00000344889.3	-	1	405	c.406A>T	c.(406-408)Atg>Ttg	p.M136L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGCGGCTCATGAGGACAGGA	0.557													20	48					0	0	0	0	A	248813780	T	A	248813780	3	1	16	1	0	0	0	0	1	0	0	0	11092	1464	51	5	550	5	OR2T27	1	248813780	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	23364	248813780	436841	46	3384											
TPO	7173	broad.mit.edu	37	chr2	1457542	1457542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgaggacggcttcagtCagccccgaggctggaacccc	8	7	12	14	2	3	1	2	1	1	0	3	4	3	3	4	4	2	2	4	4	2	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:1457542C>A	ENST00000345913.4	+	6	650	c.559C>A	c.(559-561)Cag>Aag	p.Q187K	TPO_ENST00000382198.1_Missense_Mutation_p.Q187K|TPO_ENST00000382201.3_Missense_Mutation_p.Q187K|TPO_ENST00000346956.3_Missense_Mutation_p.Q187K|TPO_ENST00000337415.3_Missense_Mutation_p.Q187K|TPO_ENST00000349624.3_Missense_Mutation_p.Q187K|TPO_ENST00000329066.4_Missense_Mutation_p.Q187K|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	187					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGCTTCAGTCAGCCCCGAGG	0.602													29	60					7.41945e-09	8.64927e-09	1	0	A	1457542	C	A	1457542	3	1	16	1	0	0	0	0	1	0	0	0	16505	827	29	2	577	2	TPO	2	1457542	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08		1457542	241741831	47	3385											
PXDN	7837	broad.mit.edu	37	chr2	1684055	1684055	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccgctgcctgcgcgttccCcgactccgcgtaggttttca	3	10	12	16	6	1	0	1	0	0	0	3	1	3	0	5	2	2	4	5	2	1	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:1684055C>G	ENST00000252804.4	-	7	690	c.640G>C	c.(640-642)Ggg>Cgg	p.G214R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	214	LRRCT.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGCGCGTTCCCCGACTCCGCG	0.582													11	24					0	0	0	0	G	1684055	C	G	1684055	3	3	16	1	0	0	0	0	1	0	0	0	12929	623	22	4	3867	4	PXDN	2	1684055	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	226513	1684055	241515318	48	3386											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10923308	10923308	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttttgtaggcatctgtGgagatcccgggactgcaact	7	13	11	10	1	2	1	0	0	2	1	3	3	3	2	1	3	2	3	1	3	2	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:10923308G>A	ENST00000381661.3	+	13	1174	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V	ATP6V1C2_ENST00000272238.4_Silent_p.V401V	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	401					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGGCATCTGTGGAGATCCCGG	0.443													20	45					0	0	0	0	A	10923308	G	A	10923308	2	1	16	1	0	0	0	0	0	0	0	1	1185	1335	47	4		4	ATP6V1C2	2	10923308	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	9239253	10923308	232276065	49	3387											
APOB	338	broad.mit.edu	37	chr2	21231404	21231404	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtttgctgaggtggttccaTtccctatgtcagcatttgca	6	15	10	10	1	1	1	1	1	0	0	3	1	3	1	2	2	3	5	2	2	1	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:21231404T>A	ENST00000233242.1	-	26	8463	c.8336A>T	c.(8335-8337)aAt>aTt	p.N2779I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2779					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGTGGTTCCATTCCCTATGTC	0.398													40	65					0	0	0	0	A	21231404	T	A	21231404	3	1	16	1	0	0	0	0	1	0	0	0	787	1493	52	5	5371	5	APOB	2	21231404	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	10308096	21231404	221967969	50	3388											
XDH	7498	broad.mit.edu	37	chr2	31598392	31598392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccagtcctgcacacaCgtcctgcagcagctcctcct	6	9	7	19	1	1	0	0	0	1	0	5	0	5	0	5	0	5	4	5	0	0	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:31598392C>A	ENST00000379416.3	-	15	1504	c.1456G>T	c.(1456-1458)Gtg>Ttg	p.V486L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	486					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.V486M(1)|p.V486L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCTGCACACACGTCCTGCAGC	0.637													18	26					1.67942e-08	1.94012e-08	1	0	A	31598392	C	A	31598392	3	1	16	1	0	0	0	0	1	0	0	0	17522	536	19	3	2633	3	XDH	2	31598392	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	10366988	31598392	211600981	51	3389											
THUMPD2	80745	broad.mit.edu	37	chr2	39971589	39971589	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaatgtcagaaataataaTatcaacactttctgaaggca	17	11	7	6	0	3	2	2	1	1	1	3	3	3	3	0	2	1	1	0	2	7	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:39971589T>C	ENST00000505747.1	-	9	1135	c.1108A>G	c.(1108-1110)Att>Gtt	p.I370V	THUMPD2_ENST00000260619.6_Missense_Mutation_p.I340V	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	370							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				GAAATAATAATATCAACACTT	0.279													16	30					0	0	0	0	C	39971589	T	C	39971589	3	2	16	1	0	0	0	0	1	0	0	0	15977	1406	49	5	411	5	THUMPD2	2	39971589	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	8373197	39971589	203227784	52	3390											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48848069	48848069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaggtatagaggaacAagttttaaaagacttgaagc	18	9	11	3	0	0	5	0	2	0	3	0	6	0	6	0	2	2	2	0	2	9	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:48848069A>G	ENST00000394754.1	+	4	2327	c.2213A>G	c.(2212-2214)cAa>cGa	p.Q738R	GTF2A1L_ENST00000430487.2_Intron|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.Q738R|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.Q738R|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.Q738R|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.Q34R|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.Q738R	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		738					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATAGAGGAACAAGTTTTAAAA	0.333													18	31					0	0	0	0	G	48848069	A	G	48848069	3	3	16	1	0	0	0	0	1	0	0	0	15407	130	5	5	2223	5	STON1-GTF2A1L	2	48848069	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	8876480	48848069	194351304	53	3391											
NRXN1	9378	broad.mit.edu	37	chr2	51254950	51254950	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgggggcagccccccgacGaaaaggccgctgaacaccgt	9	3	13	16	5	0	1	0	1	0	0	1	3	1	1	6	3	2	2	6	3	3	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:51254950G>A	ENST00000404971.1	-	2	1801	c.462C>T	c.(460-462)ttC>ttT	p.F154F	NRXN1_ENST00000405581.1_Silent_p.F154F|NRXN1_ENST00000402717.3_Silent_p.F154F|NRXN1_ENST00000401669.2_Silent_p.F154F|NRXN1_ENST00000406859.3_Silent_p.F154F|NRXN1_ENST00000406316.2_Silent_p.F154F|NRXN1_ENST00000405472.3_Silent_p.F154F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	154	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCCCCCGACGAAAAGGCCGC	0.662													5	21					0	0	0	0	A	51254950	G	A	51254950	2	1	16	1	0	0	0	0	0	0	0	1	10736	1049	37	1		1	NRXN1	2	51254950	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2406881	51254950	191944423	54	3392											
CNRIP1	25927	broad.mit.edu	37	chr2	68521024	68521024	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccttgttcacccacatCagactgcgtgtctcgttggg	6	12	10	13	2	3	1	2	0	1	1	5	2	4	1	2	1	1	2	2	1	0	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:68521024C>A	ENST00000263655.3	-	3	1070	c.465G>T	c.(463-465)ctG>ctT	p.L155L	CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Intron	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	155							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						TCACCCACATCAGACTGCGTG	0.473													25	40					2.79863e-10	3.36678e-10	1	0	A	68521024	C	A	68521024	2	1	16	1	0	0	0	0	0	0	0	1	3663	813	29	2		2	CNRIP1	2	68521024	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	17266074	68521024	174678349	55	3393											
DYSF	8291	broad.mit.edu	37	chr2	71839829	71839829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaaggtcatcgataaccGccagtttggccgccggcctg	7	8	12	14	5	2	0	2	0	0	0	3	1	2	0	5	3	1	1	5	3	2	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:71839829G>T	ENST00000258104.3	+	39	4503	c.4226G>T	c.(4225-4227)cGc>cTc	p.R1409L	DYSF_ENST00000409762.1_Missense_Mutation_p.R1426L|DYSF_ENST00000409651.1_Missense_Mutation_p.R1441L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.R1410L|DYSF_ENST00000409366.1_Missense_Mutation_p.R1410L|DYSF_ENST00000409744.1_Missense_Mutation_p.R1396L|DYSF_ENST00000429174.2_Missense_Mutation_p.R1409L|DYSF_ENST00000413539.2_Missense_Mutation_p.R1440L|DYSF_ENST00000410020.3_Missense_Mutation_p.R1427L|DYSF_ENST00000409582.3_Missense_Mutation_p.R1426L|DYSF_ENST00000410041.1_Missense_Mutation_p.R1427L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1409						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCGATAACCGCCAGTTTGGC	0.637													23	52					2.41591e-17	3.28975e-17	1	0	T	71839829	G	T	71839829	3	4	16	1	0	0	0	0	1	0	0	0	4895	1087	38	3	4572	3	DYSF	2	71839829	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3318805	71839829	171359544	56	3394											
REG3G	130120	broad.mit.edu	37	chr2	79254295	79254295	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggctccatgaccccacaCaggtgcgagtatatcctccc	8	9	9	15	1	0	1	0	1	0	0	3	2	3	1	5	2	1	2	5	2	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:79254295C>A	ENST00000272324.5	+	4	515	c.331C>A	c.(331-333)Cag>Aag	p.Q111K	REG3G_ENST00000393897.2_Missense_Mutation_p.Q111K|REG3G_ENST00000409471.1_Intron	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	111	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGACCCCACACAGGTGCGAGT	0.557													33	67					3.76114e-14	4.9025e-14	1	0	A	79254295	C	A	79254295	3	1	16	1	0	0	0	0	1	0	0	0	13295	479	17	4	341	4	REG3G	2	79254295	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	7414466	79254295	163945078	57	3395											
LRRTM1	347730	broad.mit.edu	37	chr2	80529964	80529964	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggaagttgttgagccaCgaggctagggcacacacgtt	9	8	13	11	2	0	1	0	1	0	0	0	3	0	2	2	3	1	5	2	3	2	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:80529964C>T	ENST00000295057.3	-	2	1637	c.981G>A	c.(979-981)tcG>tcA	p.S327S	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.S327S|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	327	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGTTGAGCCACGAGGCTAGGG	0.637										HNSCC(69;0.2)			7	17					0	0	0	0	T	80529964	C	T	80529964	2	4	16	1	0	0	0	0	0	0	0	1	9103	523	19	1		1	LRRTM1	2	80529964	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1275669	80529964	162669409	58	3396											
SMYD1	150572	broad.mit.edu	37	chr2	88405918	88405918	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	accaacatctacatgctgcgGatgctgagcattgtttcgga	10	11	10	10	2	1	1	0	1	1	0	2	3	1	3	1	2	6	4	1	2	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:88405918G>C	ENST00000419482.2	+	8	1141	c.1056G>C	c.(1054-1056)cgG>cgC	p.R352R	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.R339R	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ACATGCTGCGGATGCTGAGCA	0.547													22	41					0	0	0	0	C	88405918	G	C	88405918	2	2	16	1	0	0	0	0	0	0	0	1	14909	1161	41	2		2	SMYD1	2	88405918	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	7875954	88405918	154793455	59	3397											
CNGA3	1261	broad.mit.edu	37	chr2	98999860	98999860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcccgcagcgcctggccCctggccaaatgcaacactaa	9	6	8	18	2	0	0	0	0	0	0	1	0	1	0	6	2	3	2	6	2	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:98999860C>T	ENST00000393504.1	+	5	822	c.405C>T	c.(403-405)ccC>ccT	p.P135P	CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000409937.1_Silent_p.P139P|CNGA3_ENST00000272602.2_Silent_p.P135P	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	135					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCGCCTGGCCCCTGGCCAAAT	0.597													9	39					0	0	0	0	T	98999860	C	T	98999860	2	4	16	1	0	0	0	0	0	0	0	1	3628	610	22	4		4	CNGA3	2	98999860	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	10593942	98999860	144199513	60	3398											
IL1R1	3554	broad.mit.edu	37	chr2	102788275	102788275	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcaggatcccagatacaaTtgatctgtaatgtcaccggc	11	11	9	10	1	2	2	1	1	1	1	3	3	3	3	2	2	2	2	2	2	3	4	rs35308674	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:102788275T>A	ENST00000410023.1	+	8	1054	c.736T>A	c.(736-738)Ttg>Atg	p.L246M	IL1R1_ENST00000409929.1_Missense_Mutation_p.L246M|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.L246M|IL1R1_ENST00000424272.1_Missense_Mutation_p.L246M|IL1R1_ENST00000409288.1_Missense_Mutation_p.L246M|IL1R1_ENST00000233946.3_Missense_Mutation_p.L246M			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	246	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CCAGATACAATTGATCTGTAA	0.338													10	33					0	0	0	0	A	102788275	T	A	102788275	3	1	16	1	0	0	0	0	1	0	0	0	7711	1490	52	5	758	5	IL1R1	2	102788275	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	3788415	102788275	140411098	61	3399											
SLC5A7	60482	broad.mit.edu	37	chr2	108626897	108626897	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggcaggttatgtttcTggcctcttcctgagaataac	7	13	11	10	1	2	1	0	1	2	1	3	2	3	1	3	3	1	3	3	3	3	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:108626897T>A	ENST00000264047.2	+	9	1599	c.1323T>A	c.(1321-1323)tcT>tcA	p.S441S	SLC5A7_ENST00000540517.1_Silent_p.S336S|SLC5A7_ENST00000409059.1_Silent_p.S441S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	441					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GTTATGTTTCTGGCCTCTTCC	0.453													16	49					0	0	0	0	A	108626897	T	A	108626897	2	1	16	1	0	0	0	0	0	0	0	1	14758	1567	55	5		5	SLC5A7	2	108626897	Silent	SNP	T	TCGA-BA-6869-01A-11D-1870-08	5838622	108626897	134572476	62	3400											
THSD7B	80731	broad.mit.edu	37	chr2	138320906	138320906	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgctgtggaggaggaaCacaatctaggaaaatcaggt	13	7	13	8	1	2	0	1	0	1	0	2	4	2	4	1	5	2	1	1	5	5	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:138320906C>A	ENST00000409968.1	+	16	3432	c.3254C>A	c.(3253-3255)aCa>aAa	p.T1085K	THSD7B_ENST00000413152.2_Missense_Mutation_p.T1057K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T1088K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGAGGAGGAACACAATCTAGG	0.413													14	30					2.31682e-05	2.4754e-05	1	0	A	138320906	C	A	138320906	3	1	16	1	0	0	0	0	1	0	0	0	15974	478	17	4	3224	4	THSD7B	2	138320906	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	29694009	138320906	104878467	63	3401											
LRP1B	53353	broad.mit.edu	37	chr2	141092122	141092122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccaacaacagtccagtaCatcatcctgaagagagcggg	13	6	9	13	1	1	2	1	1	0	1	4	3	4	2	4	1	4	1	4	1	4	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:141092122C>A	ENST00000389484.3	-	79	13094	c.12123G>T	c.(12121-12123)atG>atT	p.M4041I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4041					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTCCAGTACATCATCCTGA	0.493										TSP Lung(27;0.18)			18	41					1.67942e-08	1.94012e-08	1	0	A	141092122	C	A	141092122	3	1	16	1	0	0	0	0	1	0	0	0	9019	478	17	4	1728	4	LRP1B	2	141092122	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2771216	141092122	102107251	64	3402											
LRP1B	53353	broad.mit.edu	37	chr2	141108566	141108566	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatatataaaacccaggaTatcagtgtcattagcaatgt	15	12	8	6	0	2	0	2	0	0	0	2	2	2	2	1	2	2	1	1	2	7	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:141108566T>A	ENST00000389484.3	-	77	12663	c.11692A>T	c.(11692-11694)Atc>Ttc	p.I3898F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3898					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAACCCAGGATATCAGTGTCA	0.294										TSP Lung(27;0.18)			35	91					0	0	0	0	A	141108566	T	A	141108566	3	1	16	1	0	0	0	0	1	0	0	0	9019	1406	49	5	2167	5	LRP1B	2	141108566	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	16444	141108566	102090807	65	3403											
LRP1B	53353	broad.mit.edu	37	chr2	141208166	141208166	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggttcatcagatccatcaCcacagtcatccacggtgtca	11	9	7	14	1	5	1	5	0	0	1	7	1	7	1	3	2	0	1	3	2	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:141208166C>G	ENST00000389484.3	-	63	10999	c.10028G>C	c.(10027-10029)gGt>gCt	p.G3343A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3343	LDL-receptor class A 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGATCCATCACCACAGTCATC	0.348										TSP Lung(27;0.18)			19	65					0	0	0	0	G	141208166	C	G	141208166	3	3	16	1	0	0	0	0	1	0	0	0	9019	507	18	4	3887	4	LRP1B	2	141208166	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	99600	141208166	101991207	66	3404											
NEB	4703	broad.mit.edu	37	chr2	152563504	152563504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttttcatagtcttctttgTattttacctgtaggagtgaa	8	20	7	6	0	4	1	1	1	3	0	4	2	4	2	1	1	1	2	1	1	5	9			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:152563504T>C	ENST00000427231.2	-	13	1245	c.1043A>G	c.(1042-1044)tAc>tGc	p.Y348C	NEB_ENST00000604864.1_Missense_Mutation_p.Y348C|NEB_ENST00000409198.1_Missense_Mutation_p.Y348C|NEB_ENST00000397345.3_Missense_Mutation_p.Y348C|NEB_ENST00000172853.10_Missense_Mutation_p.Y348C|NEB_ENST00000603639.1_Missense_Mutation_p.Y348C	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	348					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCTTCTTTGTATTTTACCTG	0.373													5	11					0	0	0	0	C	152563504	T	C	152563504	3	2	16	1	0	0	0	0	1	0	0	0	10372	1638	57	5	25323	5	NEB	2	152563504	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	11355338	152563504	90635869	67	3405											
FIGN	55137	broad.mit.edu	37	chr2	164467533	164467533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaggtacgctgaaggcGgaggcggtgcccccccaggg	8	3	18	12	3	0	1	0	1	0	0	0	2	0	2	3	7	2	3	3	7	3	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:164467533G>T	ENST00000333129.3	-	3	1123	c.809C>A	c.(808-810)cCg>cAg	p.P270Q	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	270	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGCTGAAGGCGGAGGCGGTGC	0.592													19	35					7.45023e-12	9.33101e-12	1	0	T	164467533	G	T	164467533	3	4	16	1	0	0	0	0	1	0	0	0	5936	1116	39	3	1474	3	FIGN	2	164467533	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	11904029	164467533	78731840	68	3406											
SCN1A	6323	broad.mit.edu	37	chr2	166850763	166850763	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactctccagtaaatagcAcaatgaacaccagattgatg	16	8	6	11	0	1	3	0	2	1	1	2	3	1	3	2	0	2	2	2	0	5	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:166850763A>G	ENST00000423058.2	-	25	4762	c.4745T>C	c.(4744-4746)gTg>gCg	p.V1582A	SCN1A_ENST00000375405.3_Missense_Mutation_p.V1571A|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1554A|SCN1A_ENST00000303395.4_Missense_Mutation_p.V1582A|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1582						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGTAAATAGCACAATGAACAC	0.378													12	33					0	0	0	0	G	166850763	A	G	166850763	3	3	16	1	0	0	0	0	1	0	0	0	14001	159	6	5	1292	5	SCN1A	2	166850763	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	2383230	166850763	76348610	69	3407											
SCN9A	6335	broad.mit.edu	37	chr2	167056252	167056252	+	Missense_Mutation	SNP	G	G	T																															catcatcaaagcaaagagcaGcgtgcggatcccctttgctc																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:167056252G>T	ENST00000303354.6	-	27	5240	c.4900C>A	c.(4900-4902)Ctg>Atg	p.L1634M	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.L1633M|SCN9A_ENST00000375387.4_Missense_Mutation_p.L1634M|SCN9A_ENST00000409672.1_Missense_Mutation_p.L1622M			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1633						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCAAAGAGCAGCGTGCGGATC	0.502													54	109					1.0442e-30	1.57987e-30	1	0	T	167056252	G	T	167056252	3	4	16	1	0	0	0	0	1	0	0	0	14012	962	34	4	1073	4	SCN9A	2	167056252	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	205489	167056252	76143121	70	3408	35	2									
SCN9A	6335	broad.mit.edu	37	chr2	167056253	167056253	+	Silent	SNP	C	C	G																															atcatcaaagcaaagagcagCgtgcggatcccctttgctcc																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:167056253C>G	ENST00000303354.6	-	27	5239	c.4899G>C	c.(4897-4899)acG>acC	p.T1633T	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Silent_p.T1632T|SCN9A_ENST00000375387.4_Silent_p.T1633T|SCN9A_ENST00000409672.1_Silent_p.T1621T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1632						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAAAGAGCAGCGTGCGGATCC	0.502													53	110					0	0	0	0	G	167056253	C	G	167056253	2	3	16	1	0	0	0	0	0	0	0	1	14012	755	27	3		3	SCN9A	2	167056253	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1	167056253	76143120	71	3409	35	2									
XIRP2	129446	broad.mit.edu	37	chr2	168099600	168099600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaagagaatacttggaatgGgatgaaattctgaagggaga	17	8	14	2	0	1	4	0	2	1	2	1	9	1	6	0	3	1	0	0	3	6	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:168099600G>T	ENST00000409195.1	+	9	1787	c.1698G>T	c.(1696-1698)tgG>tgT	p.W566C	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.W566C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.W344C|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	391					actin cytoskeleton organization	cell junction	actin binding	p.W566*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTTGGAATGGGATGAAATTC	0.403													13	25					1.49906e-05	1.60973e-05	1	0	T	168099600	G	T	168099600	3	4	16	1	0	0	0	0	1	0	0	0	17526	1241	43	4	1728	4	XIRP2	2	168099600	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1043347	168099600	75099773	72	3410											
AGPS	8540	broad.mit.edu	37	chr2	178301756	178301756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggaaggaatgtttgagcGaattcctgatatagttttat	12	14	11	4	1	0	2	0	2	0	0	1	5	1	4	1	2	1	2	1	2	6	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:178301756G>T	ENST00000264167.4	+	5	757	c.611G>T	c.(610-612)cGa>cTa	p.R204L	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	204	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	p.R204Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ATGTTTGAGCGAATTCCTGAT	0.303													30	72					3.67414e-24	5.3442e-24	1	0	T	178301756	G	T	178301756	3	4	16	1	0	0	0	0	1	0	0	0	394	1058	37	3	629	3	AGPS	2	178301756	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	10202156	178301756	64897617	73	3411											
TTN	7273	broad.mit.edu	37	chr2	179481873	179481873	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcgtcagcggtgagaggaCcaagaatttcagatggatct	12	9	12	8	2	3	3	2	1	1	3	4	6	3	5	1	3	1	0	1	3	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:179481873C>A	ENST00000589042.1	-	255	48073	c.47849G>T	c.(47848-47850)gGt>gTt	p.G15950V	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G14309V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G13382V|TTN_ENST00000342175.6_Missense_Mutation_p.G7077V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G6885V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7010V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14309	Fibronectin type-III 16.						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)			GGTGAGAGGACCAAGAATTTC	0.368													7	18					1.12685e-05	1.21822e-05	1	0	A	179481873	C	A	179481873	3	1	16	1	0	0	0	0	1	0	0	0	16831	507	18	4	60276	4	TTN	2	179481873	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1180117	179481873	63717500	74	3412											
TTN	7273	broad.mit.edu	37	chr2	179577472	179577472	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccttgccagcttcattgcTaactatgcaagtatattctc	10	14	6	11	0	2	0	1	0	1	0	3	0	2	0	2	0	6	4	2	0	5	8			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:179577472T>A	ENST00000589042.1	-	94	27504	c.27280A>T	c.(27280-27282)Agc>Tgc	p.S9094C	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S8777C|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7850C|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8777	Ig-like 74.						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)			GCTTCATTGCTAACTATGCAA	0.393													25	69					0	0	0	0	A	179577472	T	A	179577472	3	1	16	1	0	0	0	0	1	0	0	0	16831	1522	53	5	77325	5	TTN	2	179577472	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	95599	179577472	63621901	75	3413											
TTN	7273	broad.mit.edu	37	chr2	179659227	179659227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcactctggccatatcaaCggcagcaacaacagtcgcaa	13	7	7	14	2	3	0	2	0	2	0	5	0	3	0	1	2	4	3	1	2	5	1	rs146000949		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:179659227C>T	ENST00000589042.1	-	8	1521	c.1297G>A	c.(1297-1299)Gtt>Att	p.V433I	TTN_ENST00000360870.5_Missense_Mutation_p.V433I|TTN_ENST00000591111.1_Missense_Mutation_p.V433I|TTN_ENST00000342992.6_Missense_Mutation_p.V433I|TTN_ENST00000342175.6_Missense_Mutation_p.V433I|TTN_ENST00000460472.2_Missense_Mutation_p.V433I|TTN_ENST00000359218.5_Missense_Mutation_p.V433I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	433	Ala-rich.						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)			GCCATATCAACGGCAGCAACA	0.468													17	78					0	0	0	0	T	179659227	C	T	179659227	3	4	16	1	0	0	0	0	1	0	0	0	16831	536	19	1	110111	1	TTN	2	179659227	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	81755	179659227	63540146	76	3414											
CWC22	57703	broad.mit.edu	37	chr2	180835757	180835757	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacgctatcatctgttggtCtttccaggagcaaagtgagc	10	11	10	10	1	3	1	1	1	2	0	4	2	4	2	1	2	3	3	1	2	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:180835757C>G	ENST00000410053.3	-	9	1150	c.851G>C	c.(850-852)aGa>aCa	p.R284T	CWC22_ENST00000295749.6_Missense_Mutation_p.R284T	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	284	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ATCTGTTGGTCTTTCCAGGAG	0.353													16	22					0	0	0	0	G	180835757	C	G	180835757	3	3	16	1	0	0	0	0	1	0	0	0	4100	913	32	2	1923	2	CWC22	2	180835757	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1176530	180835757	62363616	77	3415											
CWC22	57703	broad.mit.edu	37	chr2	180851515	180851515	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aatctctatcccggggggatCgttcttgttcttcatatcta	7	16	8	10	2	5	0	1	0	4	0	8	1	6	1	1	3	0	2	1	3	4	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:180851515C>G	ENST00000410053.3	-	4	412	c.113G>C	c.(112-114)cGa>cCa	p.R38P	CWC22_ENST00000295749.6_Missense_Mutation_p.R38P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	38	Arg-rich.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CCGGGGGGATCGTTCTTGTTC	0.343													18	17					0	0	0	0	G	180851515	C	G	180851515	3	3	16	1	0	0	0	0	1	0	0	0	4100	884	31	3	2681	3	CWC22	2	180851515	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	15758	180851515	62347858	78	3416											
SLC39A10	57181	broad.mit.edu	37	chr2	196581405	196581405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatcgacttaatgaaactGaactgacagatttagaaggc	17	9	9	6	1	0	6	0	3	0	3	1	7	0	6	0	1	2	0	0	1	6	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:196581405G>A	ENST00000409086.3	+	7	2016	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	SLC39A10_ENST00000359634.5_Missense_Mutation_p.E581K|SLC39A10_ENST00000541054.1_Missense_Mutation_p.E131K	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	581					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TAATGAAACTGAACTGACAGA	0.348													20	33					0	0	0	0	A	196581405	G	A	196581405	3	1	16	1	0	0	0	0	1	0	0	0	14701	1291	45	2	1763	2	SLC39A10	2	196581405	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	15729890	196581405	46617968	79	3417											
DNAH7	56171	broad.mit.edu	37	chr2	196659141	196659141	+	Missense_Mutation	SNP	C	C	T																															gaatgatattagcccgtaaaCcttttggtgcttcattggtc																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:196659141C>T	ENST00000312428.6	-	57	10737	c.10637G>A	c.(10636-10638)gGt>gAt	p.G3546D	DNAH7_ENST00000409063.1_Missense_Mutation_p.G29D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3546	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGCCCGTAAACCTTTTGGTGC	0.443													35	83					0	0	0	0	T	196659141	C	T	196659141	3	4	16	1	0	0	0	0	1	0	0	0	4642	507	18	4	1473	4	DNAH7	2	196659141	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	77736	196659141	46540232	80	3418	36	2									
DNAH7	56171	broad.mit.edu	37	chr2	196659142	196659142	+	Missense_Mutation	SNP	C	C	A																															aatgatattagcccgtaaacCttttggtgcttcattggtca																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:196659142C>A	ENST00000312428.6	-	57	10736	c.10636G>T	c.(10636-10638)Ggt>Tgt	p.G3546C	DNAH7_ENST00000409063.1_Missense_Mutation_p.G29C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3546	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCCCGTAAACCTTTTGGTGCT	0.438													35	85					6.90743e-12	8.66814e-12	1	0	A	196659142	C	A	196659142	3	1	16	1	0	0	0	0	1	0	0	0	4642	681	24	4	1474	4	DNAH7	2	196659142	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1	196659142	46540231	81	3419	36	2									
DNAH7	56171	broad.mit.edu	37	chr2	196674504	196674504	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtagatttatggttagacAaaaggaaaagagcagcttat	17	10	10	4	0	0	3	0	0	0	3	0	4	0	4	0	2	2	4	0	2	8	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:196674504A>C	ENST00000312428.6	-	52	9953	c.9853T>G	c.(9853-9855)Tgt>Ggt	p.C3285G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3285					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGTTAGACAAAAGGAAAAG	0.368													19	31					0	0	0	0	C	196674504	A	C	196674504	3	2	16	1	0	0	0	0	1	0	0	0	4642	130	5	5	2277	5	DNAH7	2	196674504	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	15362	196674504	46524869	82	3420											
HECW2	57520	broad.mit.edu	37	chr2	197092955	197092955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccaggaagaaaaactctCtagaaggcccactgtaatcc	16	7	7	11	0	1	2	0	0	1	2	3	3	2	3	3	2	2	1	3	2	7	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:197092955C>A	ENST00000260983.2	-	22	3970	c.3788G>T	c.(3787-3789)aGa>aTa	p.R1263I	HECW2_ENST00000409111.1_Missense_Mutation_p.R907I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1263	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAAAAACTCTCTAGAAGGCCC	0.363													20	29					8.10497e-08	9.21347e-08	1	0	A	197092955	C	A	197092955	3	1	16	1	0	0	0	0	1	0	0	0	7093	913	32	2	962	2	HECW2	2	197092955	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	418451	197092955	46106418	83	3421											
FZD7	8324	broad.mit.edu	37	chr2	202900651	202900651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggggcttcgtgctggcGcctctgttcgtctacctctt	1	14	12	14	4	3	0	0	0	3	0	5	0	3	0	2	3	3	3	2	3	1	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:202900651G>A	ENST00000286201.1	+	1	1342	c.1281G>A	c.(1279-1281)gcG>gcA	p.A427A		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	427					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCGTGCTGGCGCCTCTGTTCG	0.617											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	78					0	0	0	0	A	202900651	G	A	202900651	2	1	16	1	0	0	0	0	0	0	0	1	6183	1074	38	1		1	FZD7	2	202900651	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	5807696	202900651	40298722	84	3422											
FZD5	7855	broad.mit.edu	37	chr2	208632914	208632914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacacgaacgggcccccagCggggcattcgccccccgagg	7	2	14	18	5	0	0	0	0	0	0	1	2	0	0	5	4	2	2	5	4	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:208632914C>A	ENST00000295417.3	-	2	1103	c.550G>T	c.(550-552)Gct>Tct	p.A184S		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	184					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GGGCCCCCAGCGGGGCATTCG	0.711													12	11					4.36969e-10	5.22729e-10	1	0	A	208632914	C	A	208632914	3	1	16	1	0	0	0	0	1	0	0	0	6181	768	27	3	1211	3	FZD5	2	208632914	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	5732263	208632914	34566459	85	3423											
CUL3	8452	broad.mit.edu	37	chr2	225371641	225371641	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagctttaccttgctccctCaaataggaactcatacactc	12	11	5	13	0	2	1	2	0	0	1	4	2	3	2	2	1	5	2	2	1	5	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:225371641C>G	ENST00000264414.4	-	7	1301	c.963G>C	c.(961-963)ttG>ttC	p.L321F	CUL3_ENST00000409096.1_Missense_Mutation_p.L297F|CUL3_ENST00000344951.4_Missense_Mutation_p.L255F|CUL3_ENST00000409777.1_Missense_Mutation_p.L297F	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	321					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	p.L321F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTTGCTCCCTCAAATAGGAAC	0.378													26	36					0	0	0	0	G	225371641	C	G	225371641	3	3	16	1	0	0	0	0	1	0	0	0	4088	825	29	2	1383	2	CUL3	2	225371641	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	16738727	225371641	17827732	86	3424											
SLC19A3	80704	broad.mit.edu	37	chr2	228563910	228563910	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagaggccaaggatatgAcgttgaggtaaaagtacgac	16	6	13	6	2	0	4	0	2	0	2	0	6	0	5	1	3	1	3	1	3	5	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:228563910A>T	ENST00000258403.3	-	3	592	c.521T>A	c.(520-522)gTc>gAc	p.V174D	SLC19A3_ENST00000541617.1_Missense_Mutation_p.V170D|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	174			V -> I (in dbSNP:rs59736804).		thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CAAGGATATGACGTTGAGGTA	0.507													27	85					0	0	0	0	T	228563910	A	T	228563910	3	4	16	1	0	0	0	0	1	0	0	0	14518	275	10	5	985	5	SLC19A3	2	228563910	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	3192269	228563910	14635463	87	3425											
SPHKAP	80309	broad.mit.edu	37	chr2	228890142	228890142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatctgcctggagatttcCagaggctaacccacttagga	13	9	9	10	0	1	2	0	0	1	2	2	4	2	3	3	3	2	1	3	3	4	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:228890142C>T	ENST00000392056.3	-	5	455	c.409G>A	c.(409-411)Gga>Aga	p.G137R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G137R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	137						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGAGATTTCCAGAGGCTAAC	0.378													19	60					0	0	0	0	T	228890142	C	T	228890142	3	4	16	1	0	0	0	0	1	0	0	0	15138	603	21	4	4725	4	SPHKAP	2	228890142	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	326232	228890142	14309231	88	3426											
TRIP12	9320	broad.mit.edu	37	chr2	230652349	230652349	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacataaaaaagcatttGccgggtatcaaaaggaaaga	19	8	9	5	1	1	1	1	0	0	1	1	2	1	2	1	2	3	3	1	2	8	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:230652349G>A	ENST00000283943.5	-	32	4820	c.4642C>T	c.(4642-4644)Caa>Taa	p.Q1548*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.Q1596*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.Q1278*	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1548	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAAAGCATTTGCCGGGTATCA	0.353													14	31					0	0	0	0	A	230652349	G	A	230652349	4	1	16	1	0	0	0	0	0	1	0	0	16651	1328	46	4	1376	4	TRIP12	2	230652349	Nonsense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1762207	230652349	12547024	89	3427											
COL6A3	1293	broad.mit.edu	37	chr2	238277511	238277511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcttctatgcgactccccGcagacttaacaaagaggttt	10	11	8	12	3	2	2	0	0	2	2	3	3	3	2	2	1	2	2	2	1	3	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:238277511G>T	ENST00000295550.4	-	10	5047	c.4595C>A	c.(4594-4596)gCg>gAg	p.A1532E	COL6A3_ENST00000347401.3_Missense_Mutation_p.A1331E|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1332E|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1326E|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1326E|COL6A3_ENST00000472056.1_Missense_Mutation_p.A925E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1532	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCGACTCCCCGCAGACTTAAC	0.597													34	46					3.90053e-15	5.17912e-15	1	0	T	238277511	G	T	238277511	3	4	16	1	0	0	0	0	1	0	0	0	3731	1087	38	3	5078	3	COL6A3	2	238277511	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	7625162	238277511	4921862	90	3428											
GAL3ST2	64090	broad.mit.edu	37	chr2	242741244	242741244	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccggtcaccaacatcatgttCctgaagacgcacaagacggc	12	6	9	14	3	2	3	2	1	0	2	3	3	3	3	3	2	1	2	3	2	3	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:242741244C>T	ENST00000192314.6	+	3	299	c.168C>T	c.(166-168)ttC>ttT	p.F56F	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	56					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACATCATGTTCCTGAAGACGC	0.662													18	33					0	0	0	0	T	242741244	C	T	242741244	2	4	16	1	0	0	0	0	0	0	0	1	6247	854	30	2		2	GAL3ST2	2	242741244	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	4463733	242741244	458129	91	3429											
PLCL2	23228	broad.mit.edu	37	chr3	17052928	17052928	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttttggaaatgtggttGccaaattgtagccatgaact	12	14	10	5	0	0	2	0	1	0	1	0	3	0	3	2	2	3	2	2	2	4	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:17052928G>C	ENST00000418129.2	+	2	2177	c.1712G>C	c.(1711-1713)tGc>tCc	p.C571S	PLCL2_ENST00000396755.2_Missense_Mutation_p.C571S|PLCL2_ENST00000432376.1_Missense_Mutation_p.C571S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	697					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AAATGTGGTTGCCAAATTGTA	0.418													29	31					0	0	0	0	C	17052928	G	C	17052928	3	2	16	1	0	0	0	0	1	0	0	0	12112	1319	46	4	2090	4	PLCL2	3	17052928	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08		17052928	180969502	92	3430											
LYZL4	131375	broad.mit.edu	37	chr3	42445602	42445602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaattgtcttctctaaatTaggattcagtaaagctgtgg	11	17	8	5	0	3	0	1	0	2	0	4	1	3	1	0	2	1	2	0	2	6	8			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:42445602T>C	ENST00000287748.3	-	4	582	c.307A>G	c.(307-309)Aat>Gat	p.N103D	LYZL4_ENST00000441172.1_Missense_Mutation_p.N103D|LYZL4_ENST00000470991.1_5'UTR	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	103					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TTCTCTAAATTAGGATTCAGT	0.388													18	15					0	0	0	0	C	42445602	T	C	42445602	3	2	16	1	0	0	0	0	1	0	0	0	9198	1754	61	5	141	5	LYZL4	3	42445602	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	25392674	42445602	155576828	93	3431											
ZNF660	285349	broad.mit.edu	37	chr3	44636619	44636619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgagtgtgggaaagcctatCggtatagttcacagcttatt	10	13	12	6	1	1	1	1	1	0	0	2	2	1	2	1	2	2	3	1	2	5	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:44636619C>T	ENST00000322734.2	+	3	1267	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		GAAAGCCTATCGGTATAGTTC	0.408													14	29					0	0	0	0	T	44636619	C	T	44636619	3	4	16	1	0	0	0	0	1	0	0	0	18165	875	31	1	936	1	ZNF660	3	44636619	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2191017	44636619	153385811	94	3432											
TGM4	7047	broad.mit.edu	37	chr3	44945437	44945437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgcccaagggctacgacGgctggcaggctgtggacgca	8	6	15	12	3	1	0	0	0	1	0	1	2	1	1	1	5	2	5	1	5	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:44945437G>A	ENST00000296125.4	+	9	1101	c.1033G>A	c.(1033-1035)Ggc>Agc	p.G345S		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	345					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGGCTACGACGGCTGGCAGGC	0.652													35	46					0	0	0	0	A	44945437	G	A	44945437	3	1	16	1	0	0	0	0	1	0	0	0	15926	1116	39	1	1067	1	TGM4	3	44945437	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	308818	44945437	153076993	95	3433											
USP19	10869	broad.mit.edu	37	chr3	49149744	49149744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagcccacacggtagcacCgggtacagcgcttcagcttt	9	8	11	13	3	1	0	1	0	0	0	1	0	1	0	2	2	5	6	2	2	3	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:49149744C>A	ENST00000453664.1	-	19	3020	c.2702G>T	c.(2701-2703)cGg>cTg	p.R901L	USP19_ENST00000434032.2_Missense_Mutation_p.R911L|USP19_ENST00000417901.1_Missense_Mutation_p.R913L|USP19_ENST00000398888.2_Missense_Mutation_p.R810L|USP19_ENST00000398892.3_Missense_Mutation_p.R850L|USP19_ENST00000398896.1_Missense_Mutation_p.R618L|USP19_ENST00000398898.2_Missense_Mutation_p.R850L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	810					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACGGTAGCACCGGGTACAGCG	0.617													4	6					1.23904e-05	1.33275e-05	1	0	A	49149744	C	A	49149744	3	1	16	1	0	0	0	0	1	0	0	0	17146	652	23	3	1563	3	USP19	3	49149744	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	4204307	49149744	148872686	96	3434											
FEZF2	55079	broad.mit.edu	37	chr3	62358002	62358002	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgaggagctcagacggcGggtacgcggtcgagtccagg	7	5	18	11	6	1	2	1	1	0	1	3	4	2	3	1	5	2	3	1	5	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:62358002G>C	ENST00000283268.3	-	2	836	c.542C>G	c.(541-543)cCg>cGg	p.P181R	FEZF2_ENST00000486811.1_Missense_Mutation_p.P181R|FEZF2_ENST00000475839.1_Missense_Mutation_p.P181R	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	181					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CTCAGACGGCGGGTACGCGGT	0.672													5	2					0	0	0	0	C	62358002	G	C	62358002	3	2	16	1	0	0	0	0	1	0	0	0	5871	1116	39	3	853	3	FEZF2	3	62358002	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	13208258	62358002	135664428	97	3435											
ROBO2	6092	broad.mit.edu	37	chr3	77651571	77651571	+	Frame_Shift_Del	DEL	G	G	-																															gcctgatccacaatggaaaaGctcaattcagcaaaaaacag																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:77651571delG	ENST00000461745.1	+	20	3965	c.3065delG	c.(3064-3066)acfs	p.S1023fs	ROBO2_ENST00000332191.8_Frame_Shift_Del_p.S1023fs|ROBO2_ENST00000487694.3_Frame_Shift_Del_p.S1039fs	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1023					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAATGGAAAAGCTCAATTCAG	0.443													23	17	---	---	---	---					-	77651571	G	-	77651571	7	5	16	1	0	1	0	1	0	0	0	0	13599	971	34	0	3145	0	ROBO2	3	77651571	Frame_Shift_Del	DEL	G	TCGA-BA-6869-01A-11D-1870-08	15293569	77651571	120370859	98	3436											
DPPA4	55211	broad.mit.edu	37	chr3	109047837	109047837	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcactctcccttcttgctTttctggaacccaggcttgac	6	14	6	15	0	4	1	1	1	3	0	5	2	4	2	2	2	2	2	2	2	1	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:109047837T>A	ENST00000335658.6	-	6	832	c.778A>T	c.(778-780)Aag>Tag	p.K260*		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	260						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCTTCTTGCTTTTCTGGAACC	0.517													22	19					0	0	0	0	A	109047837	T	A	109047837	4	1	16	1	0	0	0	0	0	1	0	0	4772	1850	64	5	144	5	DPPA4	3	109047837	Nonsense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	31396266	109047837	88974593	99	3437											
SEMA5B	54437	broad.mit.edu	37	chr3	122662294	122662294	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttacctggctcccacGatgagctggttcccggaggg	5	10	13	13	2	0	1	0	1	0	0	2	3	2	2	4	4	2	4	4	4	1	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:122662294G>T	ENST00000195173.4	-	4	720	c.417C>A	c.(415-417)atC>atA	p.I139I	SEMA5B_ENST00000357599.3_Silent_p.I139I|SEMA5B_ENST00000451055.2_Silent_p.I193I|SEMA5B_ENST00000465147.1_5'UTR			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	139	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGCTCCCACGATGAGCTGGT	0.602													9	16					1.76689e-08	2.03383e-08	1	0	T	122662294	G	T	122662294	2	4	16	1	0	0	0	0	0	0	0	1	14125	1048	37	3		3	SEMA5B	3	122662294	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	13614457	122662294	75360136	100	3438											
MYLK	4638	broad.mit.edu	37	chr3	123333078	123333078	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttggcatcgtcatccccGcaaacatcactaataattaa	14	11	4	12	2	2	0	2	0	0	0	4	0	3	0	2	1	2	2	2	1	5	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:123333078G>A	ENST00000360772.3	-	34	5844	c.5466C>T	c.(5464-5466)tgC>tgT	p.C1822C	MYLK_ENST00000359169.1_Silent_p.C1822C|MYLK_ENST00000354792.5_Silent_p.C673C|MYLK_ENST00000583087.1_Silent_p.C113C|MYLK_ENST00000475616.1_Silent_p.C1873C|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000578202.1_Silent_p.C112C|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Silent_p.C1873C|MYLK_ENST00000418370.2_Silent_p.C113C|MYLK_ENST00000346322.5_Silent_p.C1804C			Q15746	MYLK_HUMAN	myosin light chain kinase	1873	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGTCATCCCCGCAAACATCAC	0.498													4	156					0	0	0	0	A	123333078	G	A	123333078	2	1	16	1	0	0	0	0	0	0	0	1	10126	1079	38	1		1	MYLK	3	123333078	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	670784	123333078	74689352	101	3439											
ZNF148	7707	broad.mit.edu	37	chr3	125032301	125032301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcactttcttgtaacacttCatctgcagcaaggatctcct	9	15	5	12	0	5	0	2	0	3	0	6	1	5	1	1	1	3	3	1	1	2	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:125032301C>T	ENST00000360647.4	-	4	669	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ZNF148_ENST00000484491.1_Missense_Mutation_p.E62K|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.E62K|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.E62K	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	62					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TGTAACACTTCATCTGCAGCA	0.443													96	52					0	0	0	0	T	125032301	C	T	125032301	3	4	16	1	0	0	0	0	1	0	0	0	17829	835	29	2	2224	2	ZNF148	3	125032301	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1699223	125032301	72990129	102	3440											
RHO	6010	broad.mit.edu	37	chr3	129249874	129249874	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgccgcacccccactcGccggctggtccaggtaatgg	5	6	12	18	4	0	0	0	0	0	0	2	0	1	0	6	4	1	3	6	4	1	1	rs139731264		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:129249874G>C	ENST00000296271.3	+	2	611	c.517G>C	c.(517-519)Gcc>Ccc	p.A173P		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	173					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ACCCCCACTCGCCGGCTGGTC	0.612													15	36					0	0	0	0	C	129249874	G	C	129249874	3	2	16	1	0	0	0	0	1	0	0	0	13413	1087	38	3	523	3	RHO	3	129249874	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	4217573	129249874	68772556	103	3441											
COL6A6	131873	broad.mit.edu	37	chr3	130293227	130293227	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtatcgacatctactccgtGggcattggggatgtggatga	8	11	15	7	2	1	1	0	1	1	0	3	4	2	3	1	5	1	2	1	5	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:130293227G>A	ENST00000358511.6	+	7	3436	c.3405G>A	c.(3403-3405)gtG>gtA	p.V1135V	COL6A6_ENST00000453409.2_Silent_p.V1135V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1135	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCTACTCCGTGGGCATTGGGG	0.552													45	28					0	0	0	0	A	130293227	G	A	130293227	2	1	16	1	0	0	0	0	0	0	0	1	3733	1335	47	4		4	COL6A6	3	130293227	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1043353	130293227	67729203	104	3442											
SLCO2A1	6578	broad.mit.edu	37	chr3	133657272	133657272	+	Splice_Site	DEL	C	C	-																															agaggggtcttagacacttaCccagcaagcgcatcaacaag																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:133657272delC	ENST00000310926.4	-	12	1964		c.e12+1		SLCO2A1_ENST00000493729.1_Splice_Site	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1						sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TAGACACTTACCCAGCAAGCG	0.537													103	66	---	---	---	---					-	133657272	C	-	133657272	8	5	16	1	0	1	0	1	0	0	1	0	14814	521	18	0	252	0	SLCO2A1	3	133657272	Splice_Site	DEL	C	TCGA-BA-6869-01A-11D-1870-08	3364045	133657272	64365158	105	3443											
CLSTN2	64084	broad.mit.edu	37	chr3	140167468	140167468	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttccctccagatcgtcAcagagctgcagactaattac	10	11	7	13	1	2	3	1	0	1	3	5	3	4	3	2	0	3	2	2	0	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:140167468A>T	ENST00000458420.3	+	6	1085	c.895A>T	c.(895-897)Aca>Tca	p.T299S		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	299					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCAGATCGTCACAGAGCTGCA	0.532										HNSCC(16;0.037)			35	127					0	0	0	0	T	140167468	A	T	140167468	3	4	16	1	0	0	0	0	1	0	0	0	3592	159	6	5	917	5	CLSTN2	3	140167468	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	6510196	140167468	57854962	106	3444											
MME	4311	broad.mit.edu	37	chr3	154802866	154802866	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatggtatttgcaagtcatCagactgcataaaatcaggta	15	11	9	6	0	3	2	3	0	0	2	3	2	3	2	0	2	2	4	0	2	5	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:154802866C>G	ENST00000460393.1	+	3	299	c.179C>G	c.(178-180)tCa>tGa	p.S60*	MME_ENST00000492661.1_Nonsense_Mutation_p.S60*|MME_ENST00000493237.1_Nonsense_Mutation_p.S60*|MME_ENST00000462745.1_Nonsense_Mutation_p.S60*|MME_ENST00000382989.3_Nonsense_Mutation_p.S60*|MME_ENST00000360490.2_Nonsense_Mutation_p.S60*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	60					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	tgcaagtcatcagactgcata	0.244													42	12					0	0	0	0	G	154802866	C	G	154802866	4	3	16	1	0	0	0	0	0	1	0	0	9714	838	29	2	185	2	MME	3	154802866	Nonsense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	14635398	154802866	43219564	107	3445											
VEPH1	79674	broad.mit.edu	37	chr3	157146169	157146169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagtagatggtactgttctGgctgttccagctgagacatc	8	13	12	8	0	1	2	0	1	1	2	3	3	2	2	1	2	2	7	1	2	3	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:157146169G>T	ENST00000362010.2	-	5	945	c.638C>A	c.(637-639)cCa>cAa	p.P213Q	VEPH1_ENST00000392833.2_Missense_Mutation_p.P213Q|VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392832.2_Missense_Mutation_p.P213Q|VEPH1_ENST00000543418.1_Missense_Mutation_p.P213Q	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	213						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GTACTGTTCTGGCTGTTCCAG	0.443													102	28					5.84261e-33	8.88188e-33	1	0	T	157146169	G	T	157146169	3	4	16	1	0	0	0	0	1	0	0	0	17250	1348	47	4	1903	4	VEPH1	3	157146169	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2343303	157146169	40876261	108	3446											
SI	6476	broad.mit.edu	37	chr3	164724621	164724621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcatgagtaggtttcatCtgtgaccatccatagagatt	11	14	8	8	0	3	3	2	2	1	1	4	4	4	3	2	1	1	2	2	1	3	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:164724621C>A	ENST00000264382.3	-	37	4451	c.4389G>T	c.(4387-4389)caG>caT	p.Q1463H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1463	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAGGTTTCATCTGTGACCATC	0.358										HNSCC(35;0.089)			40	14					3.77016e-25	5.5469e-25	1	0	A	164724621	C	A	164724621	3	1	16	1	0	0	0	0	1	0	0	0	14385	912	32	2	1142	2	SI	3	164724621	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	7578452	164724621	33297809	109	3447											
SI	6476	broad.mit.edu	37	chr3	164785240	164785240	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtaaactcttttacatactGatgaggaacttcatatcttc	13	15	5	8	0	3	2	1	2	2	0	4	3	3	3	0	1	4	1	0	1	6	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:164785240G>C	ENST00000264382.3	-	6	585	c.523C>G	c.(523-525)Cag>Gag	p.Q175E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	175	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTACATACTGATGAGGAACT	0.338										HNSCC(35;0.089)			26	147					0	0	0	0	C	164785240	G	C	164785240	3	2	16	1	0	0	0	0	1	0	0	0	14385	1299	45	2	5132	2	SI	3	164785240	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	60619	164785240	33237190	110	3448											
SLITRK3	22865	broad.mit.edu	37	chr3	164907946	164907946	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccagctggagctccaTcaggcttctgccaatgtgat	7	13	9	12	0	3	1	1	1	2	0	5	2	5	2	3	2	3	3	3	2	1	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:164907946T>A	ENST00000475390.1	-	2	1116	c.673A>T	c.(673-675)Atg>Ttg	p.M225L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.M225L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	225						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGGAGCTCCATCAGGCTTCTG	0.438										HNSCC(40;0.11)			60	80					0	0	0	0	A	164907946	T	A	164907946	3	1	16	1	0	0	0	0	1	0	0	0	14832	1435	50	5	2264	5	SLITRK3	3	164907946	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	122706	164907946	33114484	111	3449											
ZBBX	79740	broad.mit.edu	37	chr3	167068208	167068208	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcattttagaaagccatacCtgcaaaagagttgttctgtg	13	13	8	7	0	2	2	1	0	1	2	2	2	2	2	2	0	3	3	2	0	5	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:167068208C>A	ENST00000392766.2	-	9	868	c.528_splice	c.e9+1	p.Q176_splice	ZBBX_ENST00000392764.1_Splice_Site_p.Q147_splice|ZBBX_ENST00000455345.2_Splice_Site_p.Q176_splice|ZBBX_ENST00000307529.5_Splice_Site_p.Q176_splice|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Splice_Site_p.Q176_splice	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	176						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAAGCCATACCTGCAAAAGAG	0.343													53	242					8.13277e-46	1.25724e-45	1	0	A	167068208	C	A	167068208	5	1	16	1	0	0	0	0	0	0	1	0	17612	695	24	4	1926	4	ZBBX	3	167068208	Splice_Site	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2160262	167068208	30954222	112	3450											
MECOM	2122	broad.mit.edu	37	chr3	168834254	168834254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgcctattggcgccaaaaTagtcagcaaggcccgggttg	10	8	13	10	2	1	0	1	0	0	0	1	1	1	0	3	3	2	2	3	3	5	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:168834254T>C	ENST00000464456.1	-	7	2042	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	MECOM_ENST00000494292.1_Missense_Mutation_p.Y469C|MECOM_ENST00000472280.1_Missense_Mutation_p.Y282C|MECOM_ENST00000392736.3_Missense_Mutation_p.Y281C|MECOM_ENST00000468789.1_Missense_Mutation_p.Y281C|MECOM_ENST00000433243.2_Missense_Mutation_p.Y282C|MECOM_ENST00000264674.3_Missense_Mutation_p.Y346C|MECOM_ENST00000460814.1_Missense_Mutation_p.Y281C	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGCGCCAAAATAGTCAGCAAG	0.493													15	79					0	0	0	0	C	168834254	T	C	168834254	3	2	16	1	0	0	0	0	1	0	0	0	9491	1406	49	5	2353	5	MECOM	3	168834254	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	1766046	168834254	29188176	113	3451											
TNIK	23043	broad.mit.edu	37	chr3	170843830	170843830	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccacgcggtgggaggtCacgttcagagcctcctgaaa	9	8	12	12	3	3	2	2	1	1	1	5	3	4	3	3	3	1	1	3	3	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:170843830C>A	ENST00000436636.2	-	17	2228	c.1884G>T	c.(1882-1884)gtG>gtT	p.V628V	TNIK_ENST00000475336.1_Silent_p.V544V|TNIK_ENST00000488470.1_Silent_p.V573V|TNIK_ENST00000369326.5_Silent_p.V599V|TNIK_ENST00000538048.1_Silent_p.V573V|TNIK_ENST00000357327.5_Silent_p.V599V|TNIK_ENST00000341852.6_Silent_p.V544V|TNIK_ENST00000284483.8_Silent_p.V628V|TNIK_ENST00000470834.1_Silent_p.V599V|TNIK_ENST00000460047.1_Silent_p.V573V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	628	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGTGGGAGGTCACGTTCAGAG	0.577													18	83					0.00121646	0.00126386	1	0	A	170843830	C	A	170843830	2	1	16	1	0	0	0	0	0	0	0	1	16407	813	29	2		2	TNIK	3	170843830	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2009576	170843830	27178600	114	3452											
CCDC39	339829	broad.mit.edu	37	chr3	180372672	180372672	+	Frame_Shift_Del	DEL	C	C	-																															gttattcccaatctcactttCcaaaaacttgatcttttctt																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:180372672delC	ENST00000273654.4	-	13	1679	c.1060delG	c.(1060-1062)aafs	p.E354fs	CCDC39_ENST00000442201.2_Frame_Shift_Del_p.E270fs			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	270					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATCTCACTTTCCAAAAACTTG	0.318													59	22	---	---	---	---					-	180372672	C	-	180372672	7	5	16	1	0	1	0	1	0	0	0	0	2837	864	30	0	2073	0	CCDC39	3	180372672	Frame_Shift_Del	DEL	C	TCGA-BA-6869-01A-11D-1870-08	9528842	180372672	17649758	115	3453											
MAP3K13	9175	broad.mit.edu	37	chr3	185161246	185161246	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggaaggggtgtttgtactCaggccccatgttattgtatt	7	16	12	6	0	1	0	1	0	0	0	1	1	1	1	2	4	1	4	2	4	4	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:185161246C>T	ENST00000265026.3	+	4	1007	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.Q81*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.Q18*|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.Q81*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.Q225*	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	225	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGTTTGTACTCAGGCCCCATG	0.368													76	35					0	0	0	0	T	185161246	C	T	185161246	4	4	16	1	0	0	0	0	0	1	0	0	9316	827	29	2	683	2	MAP3K13	3	185161246	Nonsense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	4788574	185161246	12861184	116	3454											
DOK7	285489	broad.mit.edu	37	chr4	3494900	3494900	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggacagtcgagtaccAggtgcccacctccctgcggg	6	5	14	16	3	0	0	0	0	0	0	2	2	1	1	5	3	3	1	5	3	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:3494900A>T	ENST00000340083.5	+	7	1252	c.1187A>T	c.(1186-1188)cAg>cTg	p.Q396L	DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000389653.2_Missense_Mutation_p.Q396L|DOK7_ENST00000512714.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	396					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GTCGAGTACCAGGTGCCCACC	0.692													6	10					0	0	0	0	T	3494900	A	T	3494900	3	4	16	1	0	0	0	0	1	0	0	0	4738	188	7	5	1213	5	DOK7	4	3494900	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08		3494900	187659376	117	3455											
LRPAP1	4043	broad.mit.edu	37	chr4	3516631	3516631	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttgtgcttctcgatttTggcttcgaagtgcttgagct	4	17	13	7	2	1	1	0	1	1	0	3	3	1	1	0	2	3	5	0	2	1	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:3516631T>A	ENST00000500728.2	-	7	1005	c.859A>T	c.(859-861)Aaa>Taa	p.K287*	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	287	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TTCTCGATTTTGGCTTCGAAG	0.592													43	92					0	0	0	0	A	3516631	T	A	3516631	4	1	16	1	0	0	0	0	0	1	0	0	9028	1821	63	5	222	5	LRPAP1	4	3516631	Nonsense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	21731	3516631	187637645	118	3456											
ZNF518B	85460	broad.mit.edu	37	chr4	10444812	10444812	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgactcatccactcttcctgGtcttcatacagtcgcccaca	8	12	5	16	1	4	1	2	1	2	0	7	1	6	1	3	1	1	0	3	1	1	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:10444812G>A	ENST00000326756.3	-	3	3579	c.3141C>T	c.(3139-3141)gaC>gaT	p.D1047D		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	1047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ACTCTTCCTGGTCTTCATACA	0.413													31	80					0	0	0	0	A	10444812	G	A	10444812	2	1	16	1	0	0	0	0	0	0	0	1	18058	1252	44	4		4	ZNF518B	4	10444812	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	6928181	10444812	180709464	119	3457											
KCNIP4	80333	broad.mit.edu	37	chr4	21305453	21305453	+	Missense_Mutation	SNP	C	C	A																															ctaaacctgcttcaatcagcCcaaactgttccaataattta																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:21305453C>A	ENST00000382150.4	-	1	159	c.77G>T	c.(76-78)gGg>gTg	p.G26V	KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382152.2_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000509207.1_Intron	NM_147183.3	NP_671712.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	0	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TTCAATCAGCCCAAACTGTTC	0.398													8	37					0.000157383	0.00016594	1	0	A	21305453	C	A	21305453	3	1	16	1	0	0	0	0	1	0	0	0	8095	623	22	4	752	4	KCNIP4	4	21305453	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	10860641	21305453	169848823	120	3458	37	2									
KCNIP4	80333	broad.mit.edu	37	chr4	21305454	21305454	+	Missense_Mutation	SNP	C	C	G																															taaacctgcttcaatcagccCaaactgttccaataatttaa																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:21305454C>G	ENST00000382150.4	-	1	158	c.76G>C	c.(76-78)Ggg>Cgg	p.G26R	KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382152.2_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000509207.1_Intron	NM_147183.3	NP_671712.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	0	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TCAATCAGCCCAAACTGTTCC	0.398													8	37					0	0	0	0	G	21305454	C	G	21305454	3	3	16	1	0	0	0	0	1	0	0	0	8095	594	21	4	753	4	KCNIP4	4	21305454	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1	21305454	169848822	121	3459	37	2									
ARAP2	116984	broad.mit.edu	37	chr4	36075423	36075423	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttttcgttcctttccagctGgtggccatatatcatattca	7	17	7	10	1	2	0	2	0	0	0	5	0	4	0	3	2	1	3	3	2	3	8			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:36075423G>C	ENST00000303965.4	-	32	5120	c.4631C>G	c.(4630-4632)cCa>cGa	p.P1544R		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1544					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTTTCCAGCTGGTGGCCATAT	0.413													36	67					0	0	0	0	C	36075423	G	C	36075423	3	2	16	1	0	0	0	0	1	0	0	0	841	1348	47	4	491	4	ARAP2	4	36075423	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	14769969	36075423	155078853	122	3460											
PHOX2B	8929	broad.mit.edu	37	chr4	41749478	41749478	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctctttgagctgggcactgGtgaaagtggtgcggatgcgc	6	10	17	8	2	1	2	0	2	1	0	1	3	1	3	0	4	3	3	0	4	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:41749478G>C	ENST00000226382.2	-	2	676	c.317C>G	c.(316-318)aCc>aGc	p.T106S		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	106					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTGGGCACTGGTGAAAGTGGT	0.572			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				23	59					0	0	0	0	C	41749478	G	C	41749478	3	2	16	1	0	0	0	0	1	0	0	0	11931	1261	44	4	635	4	PHOX2B	4	41749478	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	5674055	41749478	149404798	123	3461											
PDGFRA	5156	broad.mit.edu	37	chr4	55156559	55156559	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgtggactcagacaatgCatacattggtgtcacctaca	11	10	10	10	1	2	1	2	0	0	1	2	2	2	2	1	2	3	1	1	2	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:55156559C>A	ENST00000257290.5	+	22	3291	c.2960C>A	c.(2959-2961)gCa>gAa	p.A987E	FIP1L1_ENST00000507166.1_Missense_Mutation_p.A747E	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	987					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCAGACAATGCATACATTGGT	0.468			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			28	82					2.12542e-12	2.69894e-12	1	0	A	55156559	C	A	55156559	3	1	16	1	0	0	0	0	1	0	0	0	11732	710	25	4	3042	4	PDGFRA	4	55156559	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	13407081	55156559	135997717	124	3462											
KIT	3815	broad.mit.edu	37	chr4	55592133	55592133	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctagtgcattcaagcacaAtggcacggttgaatgtaagg	12	11	11	7	1	2	1	1	1	1	0	2	1	2	1	0	3	2	5	0	3	5	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:55592133A>T	ENST00000288135.5	+	9	1554	c.1457A>T	c.(1456-1458)aAt>aTt	p.N486I		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	486	Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.D479fs*2(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCAAGCACAATGGCACGGTT	0.403		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				24	50					0	0	0	0	T	55592133	A	T	55592133	3	4	16	1	0	0	0	0	1	0	0	0	8381	101	4	5	1491	5	KIT	4	55592133	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	435574	55592133	135562143	125	3463											
KDR	3791	broad.mit.edu	37	chr4	55987310	55987310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccttaattgtaagtatgtCtttttgtatgctgagcctgg	8	17	10	6	0	1	1	0	1	1	0	1	1	1	1	2	1	3	4	2	1	4	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:55987310C>T	ENST00000263923.4	-	2	410	c.115G>A	c.(115-117)Gac>Aac	p.D39N		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	39					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.D39Y(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GTAAGTATGTCTTTTTGTATG	0.333			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			16	62					0	0	0	0	T	55987310	C	T	55987310	3	4	16	1	0	0	0	0	1	0	0	0	8191	913	32	2	4071	2	KDR	4	55987310	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	395177	55987310	135166966	126	3464											
KIAA1211	57482	broad.mit.edu	37	chr4	57190344	57190344	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaagtccactgctctgccAgaagagaagaggcccgagac	13	4	11	13	1	1	4	0	0	1	4	2	6	2	4	3	1	2	1	3	1	3	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:57190344A>G	ENST00000504228.1	+	8	3558	c.3453A>G	c.(3451-3453)ccA>ccG	p.P1151P	KIAA1211_ENST00000264229.6_Silent_p.P1151P|KIAA1211_ENST00000541073.1_Silent_p.P1144P			Q6ZU35	K1211_HUMAN	KIAA1211	1151										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTGCTCTGCCAGAAGAGAAGA	0.572													16	37					0	0	0	0	G	57190344	A	G	57190344	2	3	16	1	0	0	0	0	0	0	0	1	8266	175	7	5		5	KIAA1211	4	57190344	Silent	SNP	A	TCGA-BA-6869-01A-11D-1870-08	1203034	57190344	133963932	127	3465											
TECRL	253017	broad.mit.edu	37	chr4	65180375	65180375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatcacttactgtaccactGggtggcgtaatcttctagca	9	13	9	10	1	3	0	1	0	2	0	3	0	3	0	1	2	3	4	1	2	5	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:65180375G>A	ENST00000381210.3	-	5	652	c.542C>T	c.(541-543)cCa>cTa	p.P181L	TECRL_ENST00000507440.1_Missense_Mutation_p.P181L|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	181					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTGTACCACTGGGTGGCGTAA	0.438													19	42					0	0	0	0	A	65180375	G	A	65180375	3	1	16	1	0	0	0	0	1	0	0	0	15840	1348	47	4	581	4	TECRL	4	65180375	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	7990031	65180375	125973901	128	3466											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68919654	68919654	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagtctttgaggcaatccaAtctcgatacttagttactct	10	14	6	11	1	3	1	0	1	3	0	5	2	4	1	2	1	2	2	2	1	5	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:68919654A>G	ENST00000356291.2	-	10	1349	c.1290T>C	c.(1288-1290)gaT>gaC	p.D430D	RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	430	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AGGCAATCCAATCTCGATACT	0.408													33	60					0	0	0	0	G	68919654	A	G	68919654	2	3	16	1	0	0	0	0	0	0	0	1	16337	98	4	5		5	TMPRSS11F	4	68919654	Silent	SNP	A	TCGA-BA-6869-01A-11D-1870-08	3739279	68919654	122234622	129	3467											
UGT2B10	7365	broad.mit.edu	37	chr4	69693223	69693223	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttcaacacaatgtcgagtAcagacctgctgaatgcactg	13	9	8	11	1	1	2	1	1	0	1	2	3	1	2	1	0	4	3	1	0	4	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:69693223A>G	ENST00000265403.7	+	5	1291	c.1264A>G	c.(1264-1266)Aca>Gca	p.T422A	UGT2B10_ENST00000458688.2_Missense_Mutation_p.T338A	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	422					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AATGTCGAGTACAGACCTGCT	0.388													53	91					0	0	0	0	G	69693223	A	G	69693223	3	3	16	1	0	0	0	0	1	0	0	0	17052	391	14	5	1282	5	UGT2B10	4	69693223	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	773569	69693223	121461053	130	3468											
UGT2B7	7364	broad.mit.edu	37	chr4	69978304	69978304	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacaccttcgggttgcagcCcacgacctcacctggttcca	9	8	8	16	2	1	0	1	0	0	0	3	1	2	0	5	2	3	3	5	2	1	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:69978304C>A	ENST00000305231.7	+	6	1486	c.1440C>A	c.(1438-1440)gcC>gcA	p.A480A	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	480					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGTTGCAGCCCACGACCTCA	0.483													52	118					4.25531e-23	6.10628e-23	1	0	A	69978304	C	A	69978304	2	1	16	1	0	0	0	0	0	0	0	1	17058	610	22	4		4	UGT2B7	4	69978304	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	285081	69978304	121175972	131	3469											
GC	2638	broad.mit.edu	37	chr4	72622457	72622457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttggtgtttcctggatCacacacatctttgtttgtgg	6	17	10	8	0	2	0	1	0	1	0	3	2	3	1	1	3	0	2	1	3	0	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:72622457C>A	ENST00000273951.8	-	8	1349	c.1006G>T	c.(1006-1008)Gat>Tat	p.D336Y	GC_ENST00000504199.1_Missense_Mutation_p.D355Y|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.D336Y	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	336	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTTCCTGGATCACACACATCT	0.453													8	33					5.18039e-06	5.67714e-06	1	0	A	72622457	C	A	72622457	3	1	16	1	0	0	0	0	1	0	0	0	6331	826	29	2	438	2	GC	4	72622457	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2644153	72622457	118531819	132	3470											
GC	2638	broad.mit.edu	37	chr4	72629169	72629169	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagcagcatattgtgagcaGactctatttgacagagtggt	12	12	11	6	0	1	4	0	2	1	2	1	4	1	4	0	1	3	3	0	1	3	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:72629169G>C	ENST00000273951.8	-	6	1000	c.657C>G	c.(655-657)gtC>gtG	p.V219V	GC_ENST00000504199.1_Silent_p.V238V|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.V219V	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	219	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	ATTGTGAGCAGACTCTATTTG	0.368													16	39					0	0	0	0	C	72629169	G	C	72629169	2	2	16	1	0	0	0	0	0	0	0	1	6331	929	33	2		2	GC	4	72629169	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	6712	72629169	118525107	133	3471											
ENPEP	2028	broad.mit.edu	37	chr4	111452358	111452358	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaaaaaaattttagttatAcatggaatatcccagttaaa	18	15	4	4	0	0	0	0	0	0	0	1	1	1	1	1	1	1	2	1	1	11	8			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:111452358A>G	ENST00000265162.5	+	11	2074	c.1732A>G	c.(1732-1734)Aca>Gca	p.T578A		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	578					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ttttaGTTATACATGGAATAT	0.204													15	22					0	0	0	0	G	111452358	A	G	111452358	3	3	16	1	0	0	0	0	1	0	0	0	5166	391	14	5	1774	5	ENPEP	4	111452358	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	38823189	111452358	79701918	134	3472											
ANK2	287	broad.mit.edu	37	chr4	114214656	114214656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctccgtggtcgacaccCtgaaggttgtgactgaggag	9	9	13	10	2	1	3	0	3	1	0	3	5	1	4	2	3	0	1	2	3	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:114214656C>A	ENST00000357077.4	+	22	2490	c.2437C>A	c.(2437-2439)Ctg>Atg	p.L813M	ANK2_ENST00000509550.1_Missense_Mutation_p.L22M|ANK2_ENST00000506722.1_Missense_Mutation_p.L792M|ANK2_ENST00000394537.3_Missense_Mutation_p.L813M|ANK2_ENST00000264366.6_Missense_Mutation_p.L813M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	813					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGTCGACACCCTGAAGGTTGT	0.478													17	26					5.3912e-06	5.87797e-06	1	0	A	114214656	C	A	114214656	3	1	16	1	0	0	0	0	1	0	0	0	621	680	24	4	2548	4	ANK2	4	114214656	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2762298	114214656	76939620	135	3473											
PCDH18	54510	broad.mit.edu	37	chr4	138452706	138452706	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgatattaaaaaaatcAttggcagagagcgagtatgt	16	10	9	6	2	1	1	1	0	0	1	2	4	1	1	1	1	1	2	1	1	6	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:138452706A>T	ENST00000344876.4	-	1	923	c.537T>A	c.(535-537)aaT>aaA	p.N179K	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.N179K|PCDH18_ENST00000507846.1_5'UTR	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	179	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TAAAAAAATCATTGGCAGAGA	0.483													17	40					0	0	0	0	T	138452706	A	T	138452706	3	4	16	1	0	0	0	0	1	0	0	0	11584	214	8	5	2886	5	PCDH18	4	138452706	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	24238050	138452706	52701570	136	3474											
RNF150	57484	broad.mit.edu	37	chr4	142053645	142053645	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcggggcggcgaacttGgtgttggggtcgcaggccag	4	7	21	9	5	0	0	0	0	0	0	2	1	0	0	1	8	1	2	1	8	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:142053645G>T	ENST00000306799.3	-	1	971	c.318C>A	c.(316-318)acC>acA	p.T106T	RNF150_ENST00000507500.1_Silent_p.T106T|RNF150_ENST00000420921.2_Intron|RNF150_ENST00000515673.1_Silent_p.T106T	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	106	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CGGCGAACTTGGTGTTGGGGT	0.672													8	10					5.18039e-06	5.67714e-06	1	0	T	142053645	G	T	142053645	2	4	16	1	0	0	0	0	0	0	0	1	13536	1335	47	4		4	RNF150	4	142053645	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3600939	142053645	49100631	137	3475											
GUCY1A3	2982	broad.mit.edu	37	chr4	156629432	156629432	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaaacaattgcagagcAagcagttgcagcaggtaata	18	7	10	6	0	0	2	0	1	0	1	0	2	0	2	0	1	6	7	0	1	7	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:156629432A>C	ENST00000296518.7	+	5	571	c.362A>C	c.(361-363)cAa>cCa	p.Q121P	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q121P			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	121					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATTGCAGAGCAAGCAGTTGCA	0.274													29	56					0	0	0	0	C	156629432	A	C	156629432	3	2	16	1	0	0	0	0	1	0	0	0	6944	130	5	5	372	5	GUCY1A3	4	156629432	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	14575787	156629432	34524844	138	3476											
NPY1R	4886	broad.mit.edu	37	chr4	164247365	164247365	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgcacaaaaggattcaaCttacacatcgcctcaccaaa	16	8	4	13	1	2	0	2	0	0	0	3	1	2	1	2	1	3	1	2	1	5	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:164247365C>G	ENST00000296533.2	-	2	873	c.342G>C	c.(340-342)aaG>aaC	p.K114N	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	114					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAGGATTCAACTTACACATCG	0.443													19	46					0	0	0	0	G	164247365	C	G	164247365	3	3	16	1	0	0	0	0	1	0	0	0	10679	564	20	4	820	4	NPY1R	4	164247365	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	7617933	164247365	26906911	139	3477											
TRIM60	166655	broad.mit.edu	37	chr4	165962140	165962140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagatctcaacacagcacatCctcaacttcttgtctctgag	11	12	5	13	0	4	2	2	1	3	1	7	2	5	2	1	0	3	1	1	0	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:165962140C>A	ENST00000512596.1	+	3	1132	c.916C>A	c.(916-918)Cct>Act	p.P306T	TRIM60_ENST00000341062.5_Missense_Mutation_p.P306T|TRIM60_ENST00000508504.1_Missense_Mutation_p.P306T	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	306	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CACAGCACATCCTCAACTTCT	0.383													36	77					9.45814e-24	1.3695e-23	1	0	A	165962140	C	A	165962140	3	1	16	1	0	0	0	0	1	0	0	0	16630	855	30	2	918	2	TRIM60	4	165962140	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1714775	165962140	25192136	140	3478											
DDX60L	91351	broad.mit.edu	37	chr4	169305796	169305796	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgggtcatctcccttGgaagccagcagcatgagtcg	7	10	11	13	1	3	1	1	1	2	0	6	2	4	2	3	2	3	2	3	2	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:169305796G>T	ENST00000511577.1	-	30	4330	c.4083C>A	c.(4081-4083)tcC>tcA	p.S1361S	DDX60L_ENST00000260184.7_Silent_p.S1361S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1361							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CATCTCCCTTGGAAGCCAGCA	0.547													10	22					9.70103e-10	1.15403e-09	1	0	T	169305796	G	T	169305796	2	4	16	1	0	0	0	0	0	0	0	1	4411	1335	47	4		4	DDX60L	4	169305796	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3343656	169305796	21848480	141	3479											
PALLD	23022	broad.mit.edu	37	chr4	169630280	169630280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagcaaccagcactgccCagctggttgtcacctcaggt	9	8	10	14	0	3	0	3	0	0	0	3	1	3	0	3	2	5	4	3	2	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:169630280C>A	ENST00000335742.7	+	9	1814	c.457C>A	c.(457-459)Cag>Aag	p.Q153K	PALLD_ENST00000505667.1_Missense_Mutation_p.Q535K|PALLD_ENST00000261509.6_Missense_Mutation_p.Q535K|PALLD_ENST00000512127.1_Missense_Mutation_p.Q153K			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	535					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGCACTGCCCAGCTGGTTGT	0.498									Pancreatic Cancer, Familial Clustering of				23	45					9.57634e-11	1.1674e-10	1	0	A	169630280	C	A	169630280	3	1	16	1	0	0	0	0	1	0	0	0	11478	595	21	4	1633	4	PALLD	4	169630280	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	324484	169630280	21523996	142	3480											
IRX1	79192	broad.mit.edu	37	chr5	3599662	3599662	+	Missense_Mutation	SNP	G	G	C																															ggagcgcgcagcaaggaccaGgaagatggagcgctcttcgg																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:3599662G>C	ENST00000302006.3	+	2	652	c.600G>C	c.(598-600)caG>caC	p.Q200H	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	200						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCAAGGACCAGGAAGATGGAG	0.627													35	56					0	0	0	0	C	3599662	G	C	3599662	3	2	16	1	0	0	0	0	1	0	0	0	7896	991	35	4	606	4	IRX1	5	3599662	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08		3599662	177315598	143	3481	38	2									
IRX1	79192	broad.mit.edu	37	chr5	3599663	3599663	+	Nonsense_Mutation	SNP	G	G	T																															gagcgcgcagcaaggaccagGaagatggagcgctcttcggc																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:3599663G>T	ENST00000302006.3	+	2	653	c.601G>T	c.(601-603)Gaa>Taa	p.E201*	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	201						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGGACCAGGAAGATGGAGC	0.622													34	56					1.22384e-17	1.67362e-17	1	0	T	3599663	G	T	3599663	4	4	16	1	0	0	0	0	0	1	0	0	7896	1175	41	2	607	2	IRX1	5	3599663	Nonsense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1	3599663	177315597	144	3482	38	2									
SEMA5A	9037	broad.mit.edu	37	chr5	9154600	9154600	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccccggagatgccctacCtgcgtgtgcggtagaactgg	7	8	14	12	3	0	3	0	1	0	2	0	4	0	3	4	3	5	1	4	3	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:9154600C>A	ENST00000382496.5	-	12	2146	c.1481_splice	c.e12+1	p.S494_splice		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	494				S -> R (in Ref. 2; AAC14668).	cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GATGCCCTACCTGCGTGTGCG	0.612													38	39					3.28013e-08	3.76891e-08	1	0	A	9154600	C	A	9154600	5	1	16	1	0	0	0	0	0	0	1	0	14124	695	24	4	1791	4	SEMA5A	5	9154600	Splice_Site	SNP	C	TCGA-BA-6869-01A-11D-1870-08	5554937	9154600	171760660	145	3483											
ADAMTS12	81792	broad.mit.edu	37	chr5	33535075	33535075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacagtcctcttctgaaagCcacctccacaggaagtggaa	12	7	10	12	0	2	1	0	1	2	0	4	4	4	4	4	3	1	0	4	3	3	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:33535075C>A	ENST00000504830.1	-	23	4804	c.4469G>T	c.(4468-4470)gGc>gTc	p.G1490V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1405V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1490	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTTCTGAAAGCCACCTCCACA	0.493										HNSCC(64;0.19)			32	44					1.56442e-22	2.23488e-22	1	0	A	33535075	C	A	33535075	3	1	16	1	0	0	0	0	1	0	0	0	257	739	26	4	323	4	ADAMTS12	5	33535075	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	24380475	33535075	147380185	146	3484											
WDR70	55100	broad.mit.edu	37	chr5	37727134	37727134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acagcccatattgggtttctCcagcatattccaagtgagaa	12	11	8	10	0	1	1	0	1	1	1	3	2	2	1	3	1	2	2	3	1	4	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:37727134C>T	ENST00000265107.4	+	17	2020	c.1864C>T	c.(1864-1866)Cca>Tca	p.P622S		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	622										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGGGTTTCTCCAGCATATTC	0.383													68	88					0	0	0	0	T	37727134	C	T	37727134	3	4	16	1	0	0	0	0	1	0	0	0	17417	855	30	2	1930	2	WDR70	5	37727134	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	4192059	37727134	143188126	147	3485											
C9	735	broad.mit.edu	37	chr5	39306836	39306836	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcaaatgcatattttctGgttccacctcttatgagtga	10	16	7	8	0	3	2	1	2	2	0	4	2	4	2	2	1	1	3	2	1	3	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:39306836G>C	ENST00000263408.4	-	9	1394	c.1299C>G	c.(1297-1299)acC>acG	p.T433T		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	433	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CATATTTTCTGGTTCCACCTC	0.403													32	73					0	0	0	0	C	39306836	G	C	39306836	2	2	16	1	0	0	0	0	0	0	0	1	2468	1335	47	4		4	C9	5	39306836	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1579702	39306836	141608424	148	3486											
CARD6	84674	broad.mit.edu	37	chr5	40843302	40843302	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaatctatgggggcaaGcagtaattcagaagatgctt	12	11	10	8	0	3	2	2	0	1	2	4	2	4	2	1	2	2	4	1	2	5	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:40843302G>C	ENST00000254691.5	+	2	531	c.332G>C	c.(331-333)aGc>aCc	p.S111T	CARD6_ENST00000381677.3_Missense_Mutation_p.S111T	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	111					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATGGGGGCAAGCAGTAATTCA	0.383													50	83					0	0	0	0	C	40843302	G	C	40843302	3	2	16	1	0	0	0	0	1	0	0	0	2675	971	34	4	338	4	CARD6	5	40843302	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1536466	40843302	140071958	149	3487											
C6	729	broad.mit.edu	37	chr5	41160245	41160245	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagattcctgatacttactGgatttataatctggagactg	12	15	8	6	0	1	3	0	1	1	2	2	5	2	4	1	2	2	0	1	2	5	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:41160245G>T	ENST00000263413.3	-	11	1947	c.1684_splice	c.e11+1	p.S561_splice	C6_ENST00000337836.5_Splice_Site_p.S561_splice	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	561					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GATACTTACTGGATTTATAAT	0.408													50	94					3.68337e-26	5.4317e-26	1	0	T	41160245	G	T	41160245	5	4	16	1	0	0	0	0	0	0	1	0	2336	1362	47	4	1153	4	C6	5	41160245	Splice_Site	SNP	G	TCGA-BA-6869-01A-11D-1870-08	316943	41160245	139755015	150	3488											
HMGCS1	3157	broad.mit.edu	37	chr5	43298817	43298817	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagccgcccaatgcaatcaTaggaaaggttatttctctcc	11	10	7	13	1	2	0	1	0	1	0	4	1	3	1	4	2	2	2	4	2	5	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:43298817T>C	ENST00000325110.6	-	3	457	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	HMGCS1_ENST00000433297.2_Missense_Mutation_p.Y84C	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	84					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						AATGCAATCATAGGAAAGGTT	0.428													70	116					0	0	0	0	C	43298817	T	C	43298817	3	2	16	1	0	0	0	0	1	0	0	0	7282	1406	49	5	1347	5	HMGCS1	5	43298817	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	2138572	43298817	137616443	151	3489											
HCN1	348980	broad.mit.edu	37	chr5	45262356	45262356	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagagtggcctgacttcccgGgtcaggttggtgttgtgaag	6	11	17	7	1	1	3	1	2	0	1	2	4	2	3	2	4	0	2	2	4	1	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:45262356G>C	ENST00000303230.4	-	8	2397	c.2340C>G	c.(2338-2340)acC>acG	p.T780T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	780						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGACTTCCCGGGTCAGGTTGG	0.632													22	61					0	0	0	0	C	45262356	G	C	45262356	2	2	16	1	0	0	0	0	0	0	0	1	7046	1219	43	4		4	HCN1	5	45262356	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1963539	45262356	135652904	152	3490											
HCN1	348980	broad.mit.edu	37	chr5	45396681	45396681	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcatagcaggtggccccGacgatcatgctcagcatggt	9	8	13	11	2	2	0	2	0	0	0	2	2	2	0	2	4	3	4	2	4	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:45396681G>T	ENST00000303230.4	-	4	1200	c.1143C>A	c.(1141-1143)gtC>gtA	p.V381V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	381						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGTGGCCCCGACGATCATGC	0.507													18	75					5.03518e-11	6.20909e-11	1	0	T	45396681	G	T	45396681	2	4	16	1	0	0	0	0	0	0	0	1	7046	1045	37	3		3	HCN1	5	45396681	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	134325	45396681	135518579	153	3491											
CDC20B	166979	broad.mit.edu	37	chr5	54442506	54442509	+	Frame_Shift_Del	DEL	GCTT	GCTT	-																															tcttcagcactgatccggaaGcttctgggaggtaggtggtt																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:54442506_54442509delGCTT	ENST00000334206.5	-	3	478_481	c.302_305delAAGC	c.(301-306)gtfs	p.EA101fs	CDC20B_ENST00000296733.1_Frame_Shift_Del_p.EA101fs|CDC20B_ENST00000331730.3_Frame_Shift_Del_p.EA80fs|CDC20B_ENST00000381375.2_Frame_Shift_Del_p.EA101fs|CDC20B_ENST00000322374.6_Frame_Shift_Del_p.EA101fs			Q86Y33	CD20B_HUMAN	cell division cycle 20B	101										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TGATCCGGAAGCTTCTGGGAGGTA	0.529											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	60	---	---	---	---					-	54442509	GCTT	-	54442506	7	5	16	1	0	1	0	1	0	0	0	0	3089	971	34	0	1294	0	CDC20B	5	54442506	Frame_Shift_Del	DEL	GCTT	TCGA-BA-6869-01A-11D-1870-08	9045825	54442506	126472754	154	3492											
BDP1	55814	broad.mit.edu	37	chr5	70798483	70798483	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaaggctttaagacctgtAcaagtgaggggccgattgca	12	9	12	8	1	0	2	0	1	0	1	0	3	0	2	2	3	2	3	2	3	5	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:70798483A>G	ENST00000358731.4	+	15	2369	c.2106A>G	c.(2104-2106)gtA>gtG	p.V702V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	702					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAAGACCTGTACAAGTGAGGG	0.383													23	14					0	0	0	0	G	70798483	A	G	70798483	2	3	16	1	0	0	0	0	0	0	0	1	1399	378	14	5		5	BDP1	5	70798483	Silent	SNP	A	TCGA-BA-6869-01A-11D-1870-08	16355977	70798483	110116777	155	3493											
MAP1B	4131	broad.mit.edu	37	chr5	71492996	71492996	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccttagaaaagacccccCtgggtgaacgtagtgtgaac	12	7	10	12	1	0	4	0	2	0	2	0	4	0	4	4	1	2	1	4	1	6	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:71492996C>A	ENST00000296755.7	+	5	4112	c.3814C>A	c.(3814-3816)Ctg>Atg	p.L1272M		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1272						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAAGACCCCCCTGGGTGAACG	0.517													51	23					3.86236e-30	5.81626e-30	1	0	A	71492996	C	A	71492996	3	1	16	1	0	0	0	0	1	0	0	0	9297	680	24	4	3832	4	MAP1B	5	71492996	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	694513	71492996	109422264	156	3494											
NSA2	10412	broad.mit.edu	37	chr5	74069717	74069717	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtttcaagaaagcccatGtaacacatcctgaactgaaa	15	9	7	10	1	1	3	1	2	0	1	2	3	2	3	2	0	4	2	2	0	5	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:74069717G>C	ENST00000296802.5	+	5	916	c.547G>C	c.(547-549)Gta>Cta	p.V183L		NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	183					rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						GAAAGCCCATGTAACACATCC	0.403													31	20					0	0	0	0	C	74069717	G	C	74069717	3	2	16	1	0	0	0	0	1	0	0	0	10739	1377	48	4	565	4	NSA2	5	74069717	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2576721	74069717	106845543	157	3495											
MEF2C	4208	broad.mit.edu	37	chr5	88119602	88119602	+	Missense_Mutation	SNP	C	C	A																															aatctgaatcttttttctccCcatagtccccgtttttcttc																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:88119602C>A	ENST00000504921.2	-	2	676	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W	MEF2C_ENST00000437473.2_Missense_Mutation_p.G2W|MEF2C_ENST00000340208.5_Missense_Mutation_p.G2W|MEF2C_ENST00000514028.1_Missense_Mutation_p.G2W|MEF2C_ENST00000514015.1_Missense_Mutation_p.G2W|MEF2C_ENST00000424173.2_Missense_Mutation_p.G2W|MEF2C_ENST00000510942.1_Missense_Mutation_p.G2W|MEF2C_ENST00000508569.1_Missense_Mutation_p.G2W|MEF2C_ENST00000539796.1_Missense_Mutation_p.G2W|MEF2C_ENST00000506554.1_Missense_Mutation_p.G2W			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	2					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTTTTTCTCCCCATAGTCCCC	0.338										HNSCC(66;0.2)			136	137					1.82609e-66	2.84354e-66	1	0	A	88119602	C	A	88119602	3	1	16	1	0	0	0	0	1	0	0	0	9526	623	22	4	1599	4	MEF2C	5	88119602	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	14049885	88119602	92795658	158	3496	39	2									
MEF2C	4208	broad.mit.edu	37	chr5	88119603	88119603	+	Translation_Start_Site	SNP	C	C	A																															atctgaatcttttttctcccCatagtccccgtttttcttct																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:88119603C>A	ENST00000504921.2	-	2	675	c.3G>T	c.(1-3)atG>atT	p.M1I	MEF2C_ENST00000437473.2_Start_Codon_SNP_p.M1I|MEF2C_ENST00000340208.5_Start_Codon_SNP_p.M1I|MEF2C_ENST00000514028.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000514015.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000424173.2_Start_Codon_SNP_p.M1I|MEF2C_ENST00000510942.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000508569.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000539796.1_Start_Codon_SNP_p.M1I|MEF2C_ENST00000506554.1_Start_Codon_SNP_p.M1I			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	1					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTTTTCTCCCCATAGTCCCCG	0.343										HNSCC(66;0.2)			134	135					1.23427e-62	1.91266e-62	1	0	A	88119603	C	A	88119603	1	1	16	1	0	0	0	0	0	0	0	0	9526	594	21	4		4	MEF2C	5	88119603	Translation_Start_Site	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1	88119603	92795657	159	3497	39	2									
GPR98	84059	broad.mit.edu	37	chr5	89986666	89986666	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagtttaactcagtgaaGgtaaacctgccaataattcg	13	11	8	9	1	1	2	1	2	0	0	2	2	1	2	3	1	3	2	3	1	6	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:89986666G>A	ENST00000405460.2	+	31	6855	c.6759G>A	c.(6757-6759)aaG>aaA	p.K2253K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2253					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTCAGTGAAGGTAAACCTGC	0.428													17	10					0	0	0	0	A	89986666	G	A	89986666	2	1	16	1	0	0	0	0	0	0	0	1	6771	991	35	4		4	GPR98	5	89986666	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1867063	89986666	90928594	160	3498											
POU5F2	134187	broad.mit.edu	37	chr5	93076445	93076445	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggctgtccccacaatctcCcgtggggaagcatcattggt	7	9	11	14	2	2	0	1	0	1	0	4	1	3	1	4	4	1	2	4	4	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:93076445C>T	ENST00000510627.4	-	1	898	c.825G>A	c.(823-825)cgG>cgA	p.R275R	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron|POU5F2_ENST00000606183.1_5'UTR	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	275						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CCACAATCTCCCGTGGGGAAG	0.577													6	16					0	0	0	0	T	93076445	C	T	93076445	2	4	16	1	0	0	0	0	0	0	0	1	12354	610	22	4		4	POU5F2	5	93076445	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	3089779	93076445	87838815	161	3499											
LMNB1	4001	broad.mit.edu	37	chr5	126154638	126154638	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcatgtttggaaaggattCaagaattagaggacttgctt	13	12	12	4	0	1	2	1	0	0	2	1	6	1	5	0	3	2	3	0	3	4	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:126154638C>G	ENST00000261366.5	+	6	1325	c.964C>G	c.(964-966)Caa>Gaa	p.Q322E	LMNB1_ENST00000460265.1_3'UTR|LMNB1_ENST00000395354.1_Missense_Mutation_p.Q322E	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	322	Coil 2.|Rod.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GGAAAGGATTCAAGAATTAGA	0.388													69	41					0	0	0	0	G	126154638	C	G	126154638	3	3	16	1	0	0	0	0	1	0	0	0	8904	827	29	2	986	2	LMNB1	5	126154638	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	33078193	126154638	54760622	162	3500											
FBN2	2201	broad.mit.edu	37	chr5	127595187	127595187	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcattctgagagcctccCcaagctcccctaggaggtag	8	8	10	15	0	2	1	1	1	1	1	4	3	4	2	6	2	2	2	6	2	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:127595187C>A	ENST00000508053.1	-	71	9673	c.8699G>T	c.(8698-8700)gGg>gTg	p.G2900V	FBN2_ENST00000262464.4_Missense_Mutation_p.G2900V			P35556	FBN2_HUMAN	fibrillin 2	2900					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAGAGCCTCCCCAAGCTCCCC	0.493													62	44					9.53978e-28	1.41987e-27	1	0	A	127595187	C	A	127595187	3	1	16	1	0	0	0	0	1	0	0	0	5748	623	22	4	43	4	FBN2	5	127595187	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1440549	127595187	53320073	163	3501											
FBN2	2201	broad.mit.edu	37	chr5	127702106	127702106	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacctactccactactacAaaggccgtggaattcagctg	12	9	8	12	1	1	0	1	0	0	0	2	2	2	1	3	2	5	1	3	2	6	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:127702106A>T	ENST00000508053.1	-	23	3240	c.2266T>A	c.(2266-2268)Tgt>Agt	p.C756S	FBN2_ENST00000262464.4_Missense_Mutation_p.C756S|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000508989.1_Missense_Mutation_p.C723S			P35556	FBN2_HUMAN	fibrillin 2	756	TB 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCACTACTACAAAGGCCGTGG	0.323													19	16					0	0	0	0	T	127702106	A	T	127702106	3	4	16	1	0	0	0	0	1	0	0	0	5748	130	5	5	6668	5	FBN2	5	127702106	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	106919	127702106	53213154	164	3502											
TGFBI	7045	broad.mit.edu	37	chr5	135379745	135379745	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtatggttgtcttgttacAgagtcatcagctacgagtgc	9	14	11	7	1	3	1	2	0	1	1	3	2	3	1	0	1	4	4	0	1	3	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:135379745A>G	ENST00000442011.2	+	3	394		c.e3-1		TGFBI_ENST00000504185.1_Splice_Site|TGFBI_ENST00000305126.8_Splice_Site	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa						angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCTTGTTACAGAGTCATCAG	0.537													95	51					0	0	0	0	G	135379745	A	G	135379745	5	3	16	1	0	0	0	0	0	0	1	0	15914	202	7	5	242	5	TGFBI	5	135379745	Splice_Site	SNP	A	TCGA-BA-6869-01A-11D-1870-08	7677639	135379745	45535515	165	3503											
TRPC7	57113	broad.mit.edu	37	chr5	135692763	135692763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcgcgtcccccacccGtgccaggttctccttcttca	5	9	8	19	3	3	0	1	0	2	0	5	0	4	0	5	1	3	2	5	1	0	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:135692763G>A	ENST00000513104.1	-	2	595	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	TRPC7_ENST00000426057.2_Missense_Mutation_p.R105W|TRPC7_ENST00000355180.3_Missense_Mutation_p.R105W	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	105					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.R105W(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCCCCACCCGTGCCAGGTTC	0.652													37	21					0	0	0	0	A	135692763	G	A	135692763	3	1	16	1	0	0	0	0	1	0	0	0	16679	1144	40	1	2319	1	TRPC7	5	135692763	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	313018	135692763	45222497	166	3504											
PCDHA4	56144	broad.mit.edu	37	chr5	140188125	140188125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggctgatgtgaacgacaaCgctccggcgttcgcgcagcc	7	7	14	13	6	0	2	0	2	0	0	2	3	1	2	2	2	3	4	2	2	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140188125C>T	ENST00000530339.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.N451N|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.N451N	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCTCCGGCGT	0.647													62	28					0	0	0	0	T	140188125	C	T	140188125	2	4	16	1	0	0	0	0	0	0	0	1	11597	535	19	1		1	PCDHA4	5	140188125	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	4495362	140188125	40727135	167	3505											
PCDHA6	56142	broad.mit.edu	37	chr5	140209711	140209711	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccaggctccaaaggcgTcatcacgggcgtcggtgggc	6	6	17	12	4	2	0	2	0	0	0	4	0	3	0	2	6	0	1	2	6	1	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140209711T>A	ENST00000529310.1	+	1	2149	c.2035T>A	c.(2035-2037)Tca>Aca	p.S679T	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAAAGGCGTCATCACGGGC	0.677													40	29					0	0	0	0	A	140209711	T	A	140209711	3	1	16	1	0	0	0	0	1	0	0	0	11599	1667	58	5	2037	5	PCDHA6	5	140209711	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	21586	140209711	40705549	168	3506											
PCDHA8	56140	broad.mit.edu	37	chr5	140223346	140223346	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaattctatttgtggaaaTtgtagttactttaaaagtgt	14	18	7	2	0	1	0	0	0	1	0	1	1	1	1	0	1	1	2	0	1	8	9			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140223346T>C	ENST00000378123.3	+	1	2440	c.2440T>C	c.(2440-2442)Ttg>Ctg	p.L814L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_031856.1	NP_114062.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGTGGAAATTGTAGTTACT	0.274													23	20					0	0	0	0	C	140223346	T	C	140223346	2	2	16	1	0	0	0	0	0	0	0	1	11601	1490	52	5		5	PCDHA8	5	140223346	Silent	SNP	T	TCGA-BA-6869-01A-11D-1870-08	13635	140223346	40691914	169	3507											
PCDHA10	56139	broad.mit.edu	37	chr5	140236619	140236619	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agataagggaaacccacctaTggttggtcactgcacggtcc	11	8	11	11	1	1	1	1	0	0	1	2	2	2	2	3	4	2	2	3	4	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140236619T>C	ENST00000307360.5	+	1	986	c.986T>C	c.(985-987)aTg>aCg	p.M329T	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.M329T	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCACCTATGGTTGGTCAC	0.408													34	39					0	0	0	0	C	140236619	T	C	140236619	3	2	16	1	0	0	0	0	1	0	0	0	11591	1464	51	5	988	5	PCDHA10	5	140236619	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	13273	140236619	40678641	170	3508											
PCDHA10	56139	broad.mit.edu	37	chr5	140237225	140237225	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggagctggagctgctacAgttccaggtgagcgcgcgcg	7	6	17	11	5	0	1	0	1	0	0	1	4	1	3	1	3	5	4	1	3	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140237225A>T	ENST00000307360.5	+	1	1592	c.1592A>T	c.(1591-1593)cAg>cTg	p.Q531L	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.Q531L	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGCTACAGTTCCAGGTG	0.677													80	49					0	0	0	0	T	140237225	A	T	140237225	3	4	16	1	0	0	0	0	1	0	0	0	11591	188	7	5	1594	5	PCDHA10	5	140237225	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	606	140237225	40678035	171	3509											
PCDHA12	56137	broad.mit.edu	37	chr5	140256339	140256339	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagctggtggtgactgcgCgggatgggggctcgccttcg	4	9	19	9	4	0	2	0	2	0	0	2	3	0	3	1	5	2	2	1	5	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140256339C>A	ENST00000398631.2	+	1	1282	c.1282C>A	c.(1282-1284)Cgg>Agg	p.R428R	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.R428W(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGACTGCGCGGGATGGGGG	0.637													124	76					1.15969e-64	1.80146e-64	1	0	A	140256339	C	A	140256339	2	1	16	1	0	0	0	0	0	0	0	1	11593	759	27	3		3	PCDHA12	5	140256339	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	19114	140256339	40658921	172	3510											
PCDHB3	56132	broad.mit.edu	37	chr5	140480891	140480891	+	Frame_Shift_Del	DEL	C	C	-																															ccgcgctggacggcggctctCcccctcggtctgggacagcc																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140480891delC	ENST00000231130.2	+	1	658	c.658delC	c.(658-660)ccfs	p.P221fs	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		221	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCGGCTCTCCCCCTCGGTC	0.552													44	30	---	---	---	---					-	140480891	C	-	140480891	7	5	16	1	0	1	0	1	0	0	0	0	11614	855	30	0	660	0	PCDHB3	5	140480891	Frame_Shift_Del	DEL	C	TCGA-BA-6869-01A-11D-1870-08	224552	140480891	40434369	173	3511											
PCDHB7	56129	broad.mit.edu	37	chr5	140554035	140554035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagaccgcggctcccccgCgctgagcagcgaggcgctgg	6	3	15	17	6	0	2	0	1	0	1	1	3	1	2	3	3	2	4	3	3	0	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140554035C>T	ENST00000231137.3	+	1	1793	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		540	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTCCCCCGCGCTGAGCAGC	0.697													45	32					0	0	0	0	T	140554035	C	T	140554035	3	4	16	1	0	0	0	0	1	0	0	0	11618	768	27	1	1621	1	PCDHB7	5	140554035	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	73144	140554035	40361225	174	3512											
PCDHGA7	56108	broad.mit.edu	37	chr5	140762824	140762824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaatctttaccctataGacgtggaaataatagatatt	17	13	6	5	1	1	3	0	1	1	2	1	4	1	4	1	1	1	0	1	1	9	8			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140762824G>T	ENST00000518325.1	+	1	358	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACCCTATAGACGTGGAAAT	0.418													60	37					7.50695e-29	1.12516e-28	1	0	T	140762824	G	T	140762824	3	4	16	1	0	0	0	0	1	0	0	0	11630	942	33	2	360	2	PCDHGA7	5	140762824	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	208789	140762824	40152436	175	3513											
PPP2R2B	5521	broad.mit.edu	37	chr5	146017900	146017900	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtacacgaaggtgttgCaatgatgggggtggaactcg	9	10	16	6	2	0	1	0	1	0	0	1	3	0	2	0	4	4	4	0	4	4	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:146017900C>G	ENST00000394413.3	-	6	1274	c.704G>C	c.(703-705)tGc>tCc	p.C235S	PPP2R2B_ENST00000508545.2_Missense_Mutation_p.C224S|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.C241S|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.C235S|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.C301S|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.C235S|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.C224S|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.C293S|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.C235S|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.C238S			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	235					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGGTGTTGCAATGATGGGG	0.542													43	21					0	0	0	0	G	146017900	C	G	146017900	3	3	16	1	0	0	0	0	1	0	0	0	12461	710	25	4	643	4	PPP2R2B	5	146017900	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	5255076	146017900	34897360	176	3514											
NSD1	64324	broad.mit.edu	37	chr5	176637520	176637520	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagcctctcattagtaactCacatacagaccacttaatgg	14	10	6	11	0	2	1	2	0	1	1	3	2	2	1	2	1	3	1	2	1	5	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:176637520C>G	ENST00000439151.2	+	5	2165	c.2120C>G	c.(2119-2121)tCa>tGa	p.S707*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.S438*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.S438*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.S604*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	707					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATTAGTAACTCACATACAGAC	0.403			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			43	25					0	0	0	0	G	176637520	C	G	176637520	4	3	16	1	0	0	0	0	0	1	0	0	10740	838	29	2	2134	2	NSD1	5	176637520	Nonsense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	30619620	176637520	4277740	177	3515											
RNF182	221687	broad.mit.edu	37	chr6	13977639	13977639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttgacttgtggaggcaaaGggaagaagtgcctgccagag	12	7	15	7	0	0	3	0	1	0	2	0	5	0	5	2	3	2	1	2	3	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:13977639G>A	ENST00000488300.1	+	3	812	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	RNF182_ENST00000537388.1_Missense_Mutation_p.G97R|RNF182_ENST00000544682.1_Missense_Mutation_p.G97R|RNF182_ENST00000537663.1_Missense_Mutation_p.G97R	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	97						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TGGAGGCAAAGGGAAGAAGTG	0.542													58	84					0	0	0	0	A	13977639	G	A	13977639	3	1	16	1	0	0	0	0	1	0	0	0	13551	1000	35	4	291	4	RNF182	6	13977639	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08		13977639	157137428	178	3516											
GPLD1	2822	broad.mit.edu	37	chr6	24473885	24473885	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctctgaataggagccgTgaaaatcaatctaagaaaga	17	7	10	7	1	3	4	1	2	2	2	3	6	3	5	2	1	2	0	2	1	7	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:24473885T>A	ENST00000230036.1	-	6	562	c.452A>T	c.(451-453)cAc>cTc	p.H151L	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	151						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ATAGGAGCCGTGAAAATCAAT	0.393													22	15					0	0	0	0	A	24473885	T	A	24473885	3	1	16	1	0	0	0	0	1	0	0	0	6663	1696	59	5	2191	5	GPLD1	6	24473885	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	10496246	24473885	146641182	179	3517											
SLC17A1	6568	broad.mit.edu	37	chr6	25830751	25830751	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggaacagaataaagtgctaCcttttttgggaggcaaccgg	12	10	12	7	1	0	1	0	0	0	1	0	3	0	3	2	4	4	2	2	4	6	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:25830751C>T	ENST00000244527.4	-	2	150		c.e2+1		SLC17A1_ENST00000427328.1_Splice_Site|SLC17A1_ENST00000468082.1_Splice_Site|SLC17A1_ENST00000476801.1_Splice_Site	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1						sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TAAAGTGCTACCTTTTTTGGG	0.398													66	73					0	0	0	0	T	25830751	C	T	25830751	5	4	16	1	0	0	0	0	0	0	1	0	14504	521	18	4	1412	4	SLC17A1	6	25830751	Splice_Site	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1356866	25830751	145284316	180	3518											
HIST1H3D	8351	broad.mit.edu	37	chr6	26197203	26197203	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgcaggcctcctgcagCgccatcaccgccgagctctg	5	6	11	19	4	2	0	1	0	1	0	4	1	3	0	6	1	3	3	6	1	0	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:26197203C>A	ENST00000377831.5	-	2	729	c.276G>T	c.(274-276)gcG>gcT	p.A92A	HIST1H3D_ENST00000356476.2_Silent_p.A92A	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	92					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CCTCCTGCAGCGCCATCACCG	0.587													31	99					2.08457e-15	2.79105e-15	1	0	A	26197203	C	A	26197203	2	1	16	1	0	0	0	0	0	0	0	1	7208	755	27	3		3	HIST1H3D	6	26197203	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	366452	26197203	144917864	181	3519											
HIST1H1B	3009	broad.mit.edu	37	chr6	27835170	27835170	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagccacagccttggtgatCagctctgagactgggggccc	7	7	14	13	0	2	2	1	2	1	1	2	3	2	2	3	3	3	2	3	3	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:27835170C>T	ENST00000331442.3	-	1	189	c.138G>A	c.(136-138)ctG>ctA	p.L46L		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	46	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding	p.L46L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCTTGGTGATCAGCTCTGAGA	0.602													25	87					0	0	0	0	T	27835170	C	T	27835170	2	4	16	1	0	0	0	0	0	0	0	1	7173	813	29	2		2	HIST1H1B	6	27835170	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1637967	27835170	143279897	182	3520											
OR11A1	26531	broad.mit.edu	37	chr6	29394860	29394860	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggatccgagcaagccaggcCcacgaaaagcataaagtcac	15	3	11	12	2	1	0	1	0	0	0	2	3	2	1	3	2	3	2	3	2	5	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:29394860C>A	ENST00000377149.1	-	5	1031	c.559G>T	c.(559-561)Ggc>Tgc	p.G187C	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.G187C|OR11A1_ENST00000377147.2_Missense_Mutation_p.G187C			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAAGCCAGGCCCACGAAAAGC	0.507													21	14					2.89027e-11	3.57099e-11	1	0	A	29394860	C	A	29394860	3	1	16	1	0	0	0	0	1	0	0	0	10995	623	22	4	392	4	OR11A1	6	29394860	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1559690	29394860	141720207	183	3521											
DNAH8	1769	broad.mit.edu	37	chr6	38905924	38905924	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctctacttcctcatcaCagagatgagcatggtcaaca	12	10	6	13	0	4	2	3	1	1	1	6	3	6	2	2	1	3	1	2	1	2	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:38905924C>A	ENST00000359357.3	+	76	11341	c.11087C>A	c.(11086-11088)aCa>aAa	p.T3696K	DNAH8_ENST00000449981.2_Missense_Mutation_p.T3913K|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.T3660K					dynein, axonemal, heavy chain 8									p.T3696I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCCTCATCACAGAGATGAGC	0.522													52	25					1.21353e-23	1.75319e-23	1	0	A	38905924	C	A	38905924	3	1	16	1	0	0	0	0	1	0	0	0	4643	478	17	4	11381	4	DNAH8	6	38905924	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	9511064	38905924	132209143	184	3522											
DAAM2	23500	broad.mit.edu	37	chr6	39864638	39864638	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaagcgtcttagacagAtgctagaggtcatcctagcc	11	8	11	11	1	2	3	1	0	1	3	3	3	3	3	2	1	4	3	2	1	4	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:39864638A>T	ENST00000538976.1	+	20	2574	c.2392A>T	c.(2392-2394)Atg>Ttg	p.M798L	DAAM2_ENST00000274867.4_Missense_Mutation_p.M798L|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.M798L|RP11-61I13.3_ENST00000420293.1_RNA	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	798	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCTTAGACAGATGCTAGAGGT	0.622													18	8					0	0	0	0	T	39864638	A	T	39864638	3	4	16	1	0	0	0	0	1	0	0	0	4249	333	12	5	2466	5	DAAM2	6	39864638	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	958714	39864638	131250429	185	3523											
CUL9	23113	broad.mit.edu	37	chr6	43170895	43170895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctcttggagaacctgAaccgcttctggcccatcatc	8	11	8	14	1	3	3	1	2	2	1	5	4	4	3	4	2	2	1	4	2	2	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:43170895A>G	ENST00000252050.4	+	18	3886	c.3802A>G	c.(3802-3804)Aac>Gac	p.N1268D	CUL9_ENST00000372647.2_Missense_Mutation_p.N1268D|CUL9_ENST00000354495.3_Missense_Mutation_p.N1158D	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1268	DOC.			N -> S (in Ref. 3; CAH18328).	ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGAGAACCTGAACCGCTTCTG	0.577													23	28					0	0	0	0	G	43170895	A	G	43170895	3	3	16	1	0	0	0	0	1	0	0	0	4093	246	9	5	3868	5	CUL9	6	43170895	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	3306257	43170895	127944172	186	3524											
HMGCLL1	54511	broad.mit.edu	37	chr6	55443753	55443753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcgaggtggtacctgcgcgGggtcgagcgcccctgccact	4	6	16	15	6	0	0	0	0	0	0	1	2	0	0	4	4	4	1	4	4	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:55443753G>T	ENST00000398661.2	-	1	232	c.101C>A	c.(100-102)cCc>cAc	p.P34H	HMGCLL1_ENST00000428842.1_Missense_Mutation_p.P34H|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P34H|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.P34H|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.P34H|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.P34H|HMGCLL1_ENST00000358072.5_Missense_Mutation_p.P34H	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	34							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TACCTGCGCGGGGTCGAGCGC	0.647													5	3					1.024e-07	1.16199e-07	1	0	T	55443753	G	T	55443753	3	4	16	1	0	0	0	0	1	0	0	0	7280	1232	43	4	1051	4	HMGCLL1	6	55443753	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	12272858	55443753	115671314	187	3525											
BAI3	577	broad.mit.edu	37	chr6	69666697	69666697	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatgcaatgagcagcgatgCcctggtgagaatgaacccaa	14	6	12	9	1	0	4	0	3	0	2	0	6	0	4	2	1	5	2	2	1	4	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:69666697C>A	ENST00000370598.1	+	8	2342	c.1521C>A	c.(1519-1521)tgC>tgA	p.C507*		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	507	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGCAGCGATGCCCTGGTGAGA	0.423													39	30					1.49673e-21	2.12397e-21	1	0	A	69666697	C	A	69666697	4	1	16	1	0	0	0	0	0	1	0	0	1304	747	26	4	1543	4	BAI3	6	69666697	Nonsense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	14222944	69666697	101448370	188	3526											
TBX18	9096	broad.mit.edu	37	chr6	85446515	85446515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgcactccttccacaGggggcaacatctgccgatcc	8	7	11	15	1	1	0	0	0	1	0	4	1	4	0	4	3	3	3	4	3	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:85446515G>T	ENST00000369663.5	-	8	2049	c.1712C>A	c.(1711-1713)cCt>cAt	p.P571H	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	571					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TCCTTCCACAGGGGGCAACAT	0.522													40	18					4.0492e-12	5.12152e-12	1	0	T	85446515	G	T	85446515	3	4	16	1	0	0	0	0	1	0	0	0	15747	1000	35	4	115	4	TBX18	6	85446515	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	15779818	85446515	85668552	189	3527											
GPR63	81491	broad.mit.edu	37	chr6	97246760	97246760	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctggcctggctgaggcatAtaccttcagggtagctatgg	7	11	14	9	0	1	1	1	1	0	0	1	1	1	1	2	5	3	5	2	5	4	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:97246760A>G	ENST00000229955.3	-	2	1193	c.848T>C	c.(847-849)aTa>aCa	p.I283T	GPR63_ENST00000417980.1_Missense_Mutation_p.I283T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	283						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GCTGAGGCATATACCTTCAGG	0.473													47	24					0	0	0	0	G	97246760	A	G	97246760	3	3	16	1	0	0	0	0	1	0	0	0	6753	449	16	5	415	5	GPR63	6	97246760	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	11800245	97246760	73868307	190	3528											
PRDM1	639	broad.mit.edu	37	chr6	106547326	106547326	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctacttctacaccattaAgcccatccctgccaaccagg	11	9	4	17	0	2	0	0	0	2	0	3	0	3	0	5	1	5	0	5	1	4	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:106547326A>T	ENST00000369096.4	+	4	797	c.563A>T	c.(562-564)aAg>aTg	p.K188M	PRDM1_ENST00000369089.3_Missense_Mutation_p.K54M|PRDM1_ENST00000369091.2_Missense_Mutation_p.K152M	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	188	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TACACCATTAAGCCCATCCCT	0.502			"D, N, Mis, F, S"		DLBCL								27	30					0	0	0	0	T	106547326	A	T	106547326	3	4	16	1	0	0	0	0	1	0	0	0	12530	72	3	5	590	5	PRDM1	6	106547326	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	9300566	106547326	64567741	191	3529											
GPRC6A	222545	broad.mit.edu	37	chr6	117127963	117127963	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagttgaccaattatcaCtagcaatccacatcttattt	12	14	5	10	0	2	1	1	1	1	0	3	1	3	1	2	1	1	3	2	1	5	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:117127963C>A	ENST00000310357.3	-	3	926	c.905G>T	c.(904-906)aGt>aTt	p.S302I	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Missense_Mutation_p.S302I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	302					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CCAATTATCACTAGCAATCCA	0.363													44	41					9.39024e-22	1.3355e-21	1	0	A	117127963	C	A	117127963	3	1	16	1	0	0	0	0	1	0	0	0	6778	565	20	4	1891	4	GPRC6A	6	117127963	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	10580637	117127963	53987104	192	3530											
ENPP3	5169	broad.mit.edu	37	chr6	132043384	132043384	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagatcttctacgcattcaaCcagcaccaaacaatggaacc	15	7	5	14	1	3	1	1	0	2	1	3	2	3	2	3	1	5	2	3	1	5	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:132043384C>A	ENST00000414305.1	+	19	1913	c.1585C>A	c.(1585-1587)Cca>Aca	p.P529T	ENPP3_ENST00000357639.3_Missense_Mutation_p.P529T|ENPP3_ENST00000358229.5_Missense_Mutation_p.P529T			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	529					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ACGCATTCAACCAGCACCAAA	0.408													29	23					3.67414e-24	5.3442e-24	1	0	A	132043384	C	A	132043384	3	1	16	1	0	0	0	0	1	0	0	0	5169	507	18	4	1655	4	ENPP3	6	132043384	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	14915421	132043384	39071683	193	3531											
TAAR9	134860	broad.mit.edu	37	chr6	132859539	132859539	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgatctatcctctacgcCgtccttggttttggggctgt	3	15	10	13	3	2	0	0	0	2	0	5	1	4	0	4	3	1	2	4	3	2	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:132859539C>T	ENST00000434551.1	+	0	111					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TCCTCTACGCCGTCCTTGGTT	0.478													33	17					0	0	0	0	T	132859539	C	T	132859539	1	4	16	0	1	0	0	0	0	0	0	0	15585	639	23	1		1	TAAR9	6	132859539	RNA	SNP	C	TCGA-BA-6869-01A-11D-1870-08	816155	132859539	38255528	194	3532											
GRM1	2911	broad.mit.edu	37	chr6	146755793	146755793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgcgctgacgcctccgtCgcctttccgcgactcggtgg	2	9	13	17	7	0	1	0	1	0	0	4	2	2	1	5	2	1	1	5	2	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:146755793C>T	ENST00000361719.2	+	9	3916	c.3446C>T	c.(3445-3447)tCg>tTg	p.S1149L	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.S1149L|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1149	Ser-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACGCCTCCGTCGCCTTTCCGC	0.657													5	43					0	0	0	0	T	146755793	C	T	146755793	3	4	16	1	0	0	0	0	1	0	0	0	6846	893	31	1	3541	1	GRM1	6	146755793	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	13896254	146755793	24359274	195	3533											
SASH1	23328	broad.mit.edu	37	chr6	148867161	148867161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggcagcatggccgctGtgggattcctgaagccctgg	5	9	14	13	1	0	1	0	1	0	0	2	2	2	2	4	4	2	3	4	4	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:148867161G>T	ENST00000367467.3	+	19	3834	c.3359G>T	c.(3358-3360)tGt>tTt	p.C1120F		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1120							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CATGGCCGCTGTGGGATTCCT	0.522													39	19					1.7489e-18	2.41228e-18	1	0	T	148867161	G	T	148867161	3	4	16	1	0	0	0	0	1	0	0	0	13934	1377	48	4	3433	4	SASH1	6	148867161	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2111368	148867161	22247906	196	3534											
LATS1	9113	broad.mit.edu	37	chr6	150005102	150005102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctgctgtcagaggatatgGaggtggtggctgccgattca	8	10	16	7	1	2	1	2	0	0	1	2	4	2	3	1	5	3	3	1	5	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:150005102G>A	ENST00000543571.1	-	4	1670	c.1123C>T	c.(1123-1125)Cca>Tca	p.P375S	LATS1_ENST00000392273.3_Missense_Mutation_p.P375S|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.P375S	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	375					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGAGGATATGGAGGTGGTGGC	0.478													40	30					0	0	0	0	A	150005102	G	A	150005102	3	1	16	1	0	0	0	0	1	0	0	0	8699	1174	41	2	2289	2	LATS1	6	150005102	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1137941	150005102	21109965	197	3535											
SYNE1	23345	broad.mit.edu	37	chr6	152605236	152605236	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacaagactcggatacCagctcctctgcgagagagga	11	6	11	13	2	2	2	1	0	1	2	4	6	3	4	3	2	3	1	3	2	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:152605236C>G	ENST00000367255.5	-	96	18685	c.18084G>C	c.(18082-18084)ctG>ctC	p.L6028L	SYNE1_ENST00000265368.4_Silent_p.L6028L|SYNE1_ENST00000356820.4_Silent_p.L552L|SYNE1_ENST00000423061.1_Silent_p.L5957L|SYNE1_ENST00000341594.5_Silent_p.L5640L|SYNE1_ENST00000448038.1_Silent_p.L5957L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6028					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTCGGATACCAGCTCCTCTG	0.542										HNSCC(10;0.0054)			35	25					0	0	0	0	G	152605236	C	G	152605236	2	3	16	1	0	0	0	0	0	0	0	1	15536	581	21	4		4	SYNE1	6	152605236	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2600134	152605236	18509831	198	3536											
SYNE1	23345	broad.mit.edu	37	chr6	152631122	152631122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcactgcttgcaccttcgGcttcagtgactccatctcag	6	12	8	15	1	2	1	2	1	1	0	5	1	3	1	2	1	3	4	2	1	0	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:152631122G>A	ENST00000367255.5	-	90	17651	c.17050C>T	c.(17050-17052)Ccg>Tcg	p.P5684S	SYNE1_ENST00000265368.4_Missense_Mutation_p.P5684S|SYNE1_ENST00000356820.4_Missense_Mutation_p.P208S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P5613S|SYNE1_ENST00000341594.5_Missense_Mutation_p.P5296S|SYNE1_ENST00000448038.1_Missense_Mutation_p.P5613S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5684					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCACCTTCGGCTTCAGTGAC	0.453										HNSCC(10;0.0054)			30	19					0	0	0	0	A	152631122	G	A	152631122	3	1	16	1	0	0	0	0	1	0	0	0	15536	1203	42	4	9644	4	SYNE1	6	152631122	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	25886	152631122	18483945	199	3537											
VIP	7432	broad.mit.edu	37	chr6	153077303	153077303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaccctgtaccagtcaaaCgtcactcagatgcagtcttc	12	9	7	13	1	4	2	3	0	1	2	5	2	4	2	2	0	3	2	2	0	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:153077303C>A	ENST00000367244.3	+	5	542	c.370C>A	c.(370-372)Cgt>Agt	p.R124S	VIP_ENST00000367243.3_Missense_Mutation_p.R123S	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	124					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		ACCAGTCAAACGTCACTCAGA	0.383													67	43					1.93348e-29	2.90475e-29	1	0	A	153077303	C	A	153077303	3	1	16	1	0	0	0	0	1	0	0	0	17263	536	19	3	384	3	VIP	6	153077303	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	446181	153077303	18037764	200	3538											
SLC22A2	6582	broad.mit.edu	37	chr6	160668217	160668217	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaaggccctggctcaccTgaagggaggcgggtagagat	10	7	15	9	1	1	2	1	1	0	1	1	4	1	3	2	5	0	2	2	5	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:160668217T>G	ENST00000366952.1	-	7	2374	c.894_splice	c.e7+1	p.Q298_splice	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Splice_Site_p.Q319_splice			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	319					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CTGGCTCACCTGAAGGGAGGC	0.488													50	27					0	0	0	0	G	160668217	T	G	160668217	5	3	16	1	0	0	0	0	0	0	1	0	14539	1594	55	5	739	5	SLC22A2	6	160668217	Splice_Site	SNP	T	TCGA-BA-6869-01A-11D-1870-08	7590914	160668217	10446850	201	3539											
MAD1L1	8379	broad.mit.edu	37	chr7	1937853	1937853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccttgaagatgaggcagtCgcctgggtgctcggcgtaca	8	8	14	11	3	0	3	0	2	0	1	2	3	0	3	2	3	2	3	2	3	2	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:1937853C>T	ENST00000406869.1	-	18	2538	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N	MAD1L1_ENST00000265854.7_Missense_Mutation_p.D661N|MAD1L1_ENST00000402746.1_Missense_Mutation_p.D569N|MAD1L1_ENST00000399654.2_Missense_Mutation_p.D661N			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	661					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ATGAGGCAGTCGCCTGGGTGC	0.627													4	9					0	0	0	0	T	1937853	C	T	1937853	3	4	16	1	0	0	0	0	1	0	0	0	9212	884	31	1	183	1	MAD1L1	7	1937853	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08		1937853	157200810	202	3540											
DGKB	1607	broad.mit.edu	37	chr7	14722240	14722240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaacatttaacagttttgtGgcacttatcacacttggttg	10	16	8	7	0	1	0	1	0	0	0	1	0	1	0	0	2	2	4	0	2	3	8			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:14722240G>T	ENST00000403951.2	-	12	1392	c.973C>A	c.(973-975)Cac>Aac	p.H325N	DGKB_ENST00000258767.5_Missense_Mutation_p.H325N|DGKB_ENST00000402815.1_Missense_Mutation_p.H325N|DGKB_ENST00000444700.2_Missense_Mutation_p.H318N|DGKB_ENST00000406247.3_Missense_Mutation_p.H325N|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.H318N|DGKB_ENST00000399322.3_Missense_Mutation_p.H325N			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	325					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ACAGTTTTGTGGCACTTATCA	0.423													40	93					1.48646e-12	1.89887e-12	1	0	T	14722240	G	T	14722240	3	4	16	1	0	0	0	0	1	0	0	0	4503	1348	47	4	1516	4	DGKB	7	14722240	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	12784387	14722240	144416423	203	3541											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067285	18067285	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcatcaatttccacgcAggtctcctggttgctgaatt	8	14	7	12	1	3	1	2	1	2	0	6	1	4	1	2	2	1	3	2	2	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:18067285A>T	ENST00000506618.2	-	1	201	c.121T>A	c.(121-123)Tgc>Agc	p.C41S		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	41					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ATTTCCACGCAGGTCTCCTGG	0.512													65	138					0	0	0	0	T	18067285	A	T	18067285	3	4	16	1	0	0	0	0	1	0	0	0	12659	188	7	5	839	5	PRPS1L1	7	18067285	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	3345045	18067285	141071378	204	3542											
CRHR2	1395	broad.mit.edu	37	chr7	30706845	30706845	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggtgagggccactcaccTtgtcatccaaaatgggctca	10	8	11	12	0	3	1	3	1	0	0	4	1	4	1	3	3	0	2	3	3	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:30706845T>C	ENST00000471646.1	-	3	731	c.315_splice	c.e3+1	p.K105_splice	CRHR2_ENST00000341843.4_Splice_Site_p.K91_splice|CRHR2_ENST00000348438.4_Splice_Site_p.K132_splice|CRHR2_ENST00000506074.2_Splice_Site_p.K105_splice	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	105					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCACTCACCTTGTCATCCAA	0.517													15	47					0	0	0	0	C	30706845	T	C	30706845	5	2	16	1	0	0	0	0	0	0	1	0	3902	1623	56	5	961	5	CRHR2	7	30706845	Splice_Site	SNP	T	TCGA-BA-6869-01A-11D-1870-08	12639560	30706845	128431818	205	3543											
CCDC129	223075	broad.mit.edu	37	chr7	31683113	31683113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctccaggtctgtaatgaCccagatgtcctccagcctgg	8	9	10	14	0	1	2	0	1	1	1	4	2	4	2	5	2	2	2	5	2	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:31683113C>T	ENST00000319386.3	+	11	2678	c.1685C>T	c.(1684-1686)aCc>aTc	p.T562I	CCDC129_ENST00000451887.2_Missense_Mutation_p.T736I|CCDC129_ENST00000409210.1_Missense_Mutation_p.T618I|CCDC129_ENST00000407970.3_Missense_Mutation_p.T710I			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	710										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCTGTAATGACCCAGATGTCC	0.522													25	45					0	0	0	0	T	31683113	C	T	31683113	3	4	16	1	0	0	0	0	1	0	0	0	2789	507	18	4	2167	4	CCDC129	7	31683113	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	976268	31683113	127455550	206	3544											
PDE1C	5137	broad.mit.edu	37	chr7	32209472	32209472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggatctcctctgggggtCgagggtcatggacaattgtt	7	12	14	8	1	3	0	1	0	2	0	5	3	3	2	1	5	0	1	1	5	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:32209472C>A	ENST00000396193.1	-	3	826	c.233G>T	c.(232-234)cGa>cTa	p.R78L		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTCTGGGGGTCGAGGGTCATG	0.507													29	64					1.04594e-18	1.44579e-18	1	0	A	32209472	C	A	32209472	3	1	16	1	0	0	0	0	1	0	0	0	11706	899	31	3		3	PDE1C	7	32209472	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	526359	32209472	126929191	207	3545											
NPSR1	387129	broad.mit.edu	37	chr7	34889223	34889223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacgttccgggagagaactGagaggcatgagatgcagatt	12	8	15	6	2	0	5	0	3	0	4	1	9	1	6	1	2	2	3	1	2	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:34889223G>A	ENST00000360581.1	+	9	1200	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	NPSR1_ENST00000381539.3_Silent_p.*391*|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.E292K|NPSR1_ENST00000531252.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	358						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GGAGAGAACTGAGAGGCATGA	0.488													40	80					0	0	0	0	A	34889223	G	A	34889223	3	1	16	1	0	0	0	0	1	0	0	0	10671	1291	45	2	1106	2	NPSR1	7	34889223	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2679751	34889223	124249440	208	3546											
ADCY1	107	broad.mit.edu	37	chr7	45697343	45697343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagatctgtggctgaagccaCcgaggtggatctgaacatgc	10	8	13	10	1	2	3	0	2	2	1	2	5	2	4	2	3	3	1	2	3	2	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:45697343C>A	ENST00000297323.7	+	6	1188	c.1166C>A	c.(1165-1167)aCc>aAc	p.T389N	ADCY1_ENST00000432715.1_Missense_Mutation_p.T164N	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	389					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCTGAAGCCACCGAGGTGGAT	0.607													5	15					1.23904e-05	1.33275e-05	1	0	A	45697343	C	A	45697343	3	1	16	1	0	0	0	0	1	0	0	0	292	507	18	4	1188	4	ADCY1	7	45697343	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	10808120	45697343	113441320	209	3547											
TNS3	64759	broad.mit.edu	37	chr7	47333420	47333420	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgagttcattggccaaaTctccagctgtggcaagaaat	12	9	11	9	1	2	1	1	0	1	1	3	3	2	2	2	3	1	3	2	3	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:47333420T>C	ENST00000398879.1	-	25	4049	c.3683A>G	c.(3682-3684)gAt>gGt	p.D1228G	TNS3_ENST00000355730.3_Missense_Mutation_p.D988G|TNS3_ENST00000311160.9_Missense_Mutation_p.D1228G			Q68CZ2	TENS3_HUMAN	tensin 3	1228	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATTGGCCAAATCTCCAGCTGT	0.438													28	50					0	0	0	0	C	47333420	T	C	47333420	3	2	16	1	0	0	0	0	1	0	0	0	16438	1435	50	5	682	5	TNS3	7	47333420	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	1636077	47333420	111805243	210	3548											
TNS3	64759	broad.mit.edu	37	chr7	47408232	47408232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattcacaacctggtctcCtggaaacctgggtttgaacg	9	11	9	12	1	2	1	1	1	1	0	4	2	3	2	4	3	3	1	4	3	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:47408232C>T	ENST00000398879.1	-	17	2377	c.2011G>A	c.(2011-2013)Gga>Aga	p.G671R	TNS3_ENST00000355730.3_Missense_Mutation_p.G431R|TNS3_ENST00000311160.9_Missense_Mutation_p.G671R			Q68CZ2	TENS3_HUMAN	tensin 3	671						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ACCTGGTCTCCTGGAAACCTG	0.632													60	113					0	0	0	0	T	47408232	C	T	47408232	3	4	16	1	0	0	0	0	1	0	0	0	16438	690	24	4	2386	4	TNS3	7	47408232	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	74812	47408232	111730431	211	3549											
PKD1L1	168507	broad.mit.edu	37	chr7	47894539	47894539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggaaaattcaatttctatCtgtagagattcctgggggtt	10	16	10	5	0	3	1	1	0	2	1	4	3	4	2	1	3	0	2	1	3	5	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:47894539C>G	ENST00000289672.2	-	30	4850	c.4800G>C	c.(4798-4800)caG>caC	p.Q1600H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1600					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAATTTCTATCTGTAGAGATT	0.398													31	63					0	0	0	0	G	47894539	C	G	47894539	3	3	16	1	0	0	0	0	1	0	0	0	12036	912	32	2	3861	2	PKD1L1	7	47894539	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	486307	47894539	111244124	212	3550											
ABCA13	154664	broad.mit.edu	37	chr7	48285513	48285513	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttctctgagaaggaggtCtttttgccgcctggaaactc	7	13	11	10	2	2	1	0	1	2	1	4	4	2	3	2	3	2	1	2	3	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:48285513C>A	ENST00000435803.1	+	13	1569	c.1545C>A	c.(1543-1545)gtC>gtA	p.V515V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	515					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						AGAAGGAGGTCTTTTTGCCGC	0.448													15	37					6.72482e-11	8.24499e-11	1	0	A	48285513	C	A	48285513	2	1	16	1	0	0	0	0	0	0	0	1	31	900	32	2		2	ABCA13	7	48285513	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	390974	48285513	110853150	213	3551											
ABCA13	154664	broad.mit.edu	37	chr7	48318403	48318403	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttcggggaagatgtccAcagtttttaaaactcatttt	12	15	8	6	1	1	1	1	0	0	1	3	2	2	2	1	2	1	2	1	2	4	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:48318403A>T	ENST00000435803.1	+	18	7636	c.7612A>T	c.(7612-7614)Aca>Tca	p.T2538S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2538					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						GAAGATGTCCACAGTTTTTAA	0.393													55	134					0	0	0	0	T	48318403	A	T	48318403	3	4	16	1	0	0	0	0	1	0	0	0	31	159	6	5	7511	5	ABCA13	7	48318403	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	32890	48318403	110820260	214	3552											
ZPBP	11055	broad.mit.edu	37	chr7	50129302	50129302	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttggtaatcgaaccaagtgtCcaactatcaaaaaaaaagat	19	9	6	7	1	1	1	1	0	0	1	3	2	2	1	2	1	2	1	2	1	9	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:50129302C>G	ENST00000046087.2	-	2	200	c.131G>C	c.(130-132)gGa>gCa	p.G44A	ZPBP_ENST00000419417.1_Missense_Mutation_p.G44A	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	44					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AACCAAGTGTCCAACTATCAA	0.318													16	22					0	0	0	0	G	50129302	C	G	50129302	3	3	16	1	0	0	0	0	1	0	0	0	18312	855	30	2	952	2	ZPBP	7	50129302	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1810899	50129302	109009361	215	3553											
GTF2I	2969	broad.mit.edu	37	chr7	74113421	74113421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggactatttctgcttttgCtatggtaaaaacaatagatt	13	15	8	5	0	1	1	0	0	1	1	1	3	1	2	0	2	3	3	0	2	7	8			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:74113421C>G	ENST00000324896.4	+	4	758	c.369C>G	c.(367-369)tgC>tgG	p.C123W	GTF2I_ENST00000353920.4_Missense_Mutation_p.C123W|GTF2I_ENST00000346152.4_Missense_Mutation_p.C123W|GTF2I_ENST00000416070.1_Missense_Mutation_p.C123W|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.C123W	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	123					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TCTGCTTTTGCTATGGTAAAA	0.294													7	23					0	0	0	0	G	74113421	C	G	74113421	3	3	16	1	0	0	0	0	1	0	0	0	6917	805	28	4	379	4	GTF2I	7	74113421	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	23984119	74113421	85025242	216	3554											
PHTF2	57157	broad.mit.edu	37	chr7	77569410	77569410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgcagtctctctcatactgGgtttaactccatttgttttc	7	18	6	10	0	2	0	1	0	2	0	6	0	3	0	1	1	3	3	1	1	2	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:77569410G>A	ENST00000416283.2	+	12	1555	c.1429G>A	c.(1429-1431)Ggt>Agt	p.G477S	PHTF2_ENST00000307305.8_Missense_Mutation_p.G473S|PHTF2_ENST00000248550.7_Missense_Mutation_p.G511S|PHTF2_ENST00000424760.1_Missense_Mutation_p.G473S|PHTF2_ENST00000422959.2_Missense_Mutation_p.G477S|PHTF2_ENST00000275575.7_Missense_Mutation_p.G473S	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TCTCATACTGGGTTTAACTCC	0.408													21	59					0	0	0	0	A	77569410	G	A	77569410	3	1	16	1	0	0	0	0	1	0	0	0	11935	1232	43	4	1529	4	PHTF2	7	77569410	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3455989	77569410	81569253	217	3555											
PCLO	27445	broad.mit.edu	37	chr7	82538271	82538271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaccatgtccattttcCaaacgagactccctgggttt	9	12	7	13	1	0	2	0	0	0	2	4	3	4	2	5	1	1	1	5	1	1	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:82538271C>A	ENST00000423517.2	-	8	13696	c.13359G>T	c.(13357-13359)ttG>ttT	p.L4453F	PCLO_ENST00000333891.8_Missense_Mutation_p.L4453F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4384	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.L4453F(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCCATTTTCCAAACGAGACT	0.443													22	58					2.37509e-13	3.05233e-13	1	0	A	82538271	C	A	82538271	3	1	16	1	0	0	0	0	1	0	0	0	11654	593	21	4	2158	4	PCLO	7	82538271	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	4968861	82538271	76600392	218	3556											
CDK14	5218	broad.mit.edu	37	chr7	90419960	90419960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggacacctttcacagctatCagggaaggtaggcacttttc	10	10	11	10	0	2	0	2	0	0	0	3	2	2	2	1	4	1	3	1	4	3	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:90419960C>T	ENST00000406263.1	+	4	841	c.399C>T	c.(397-399)atC>atT	p.I133I	CDK14_ENST00000436577.2_Silent_p.I50I|CDK14_ENST00000265741.3_Silent_p.I161I|CDK14_ENST00000380050.3_Silent_p.I179I			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	179					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TCACAGCTATCAGGGAAGGTA	0.403													15	32					0	0	0	0	T	90419960	C	T	90419960	2	4	16	1	0	0	0	0	0	0	0	1	3159	816	29	2		2	CDK14	7	90419960	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	7881689	90419960	68718703	219	3557											
CASD1	64921	broad.mit.edu	37	chr7	94183816	94183816	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttagccttcatcctaataAgaaacatccctggatatgcc	12	13	5	11	0	1	1	1	0	0	1	3	2	3	2	4	1	3	0	4	1	5	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:94183816A>G	ENST00000297273.4	+	17	2343	c.2056A>G	c.(2056-2058)Aga>Gga	p.R686G		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	686						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CATCCTAATAAGAAACATCCC	0.274													24	59					0	0	0	0	G	94183816	A	G	94183816	3	3	16	1	0	0	0	0	1	0	0	0	2689	64	3	5	2122	5	CASD1	7	94183816	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	3763856	94183816	64954847	220	3558											
PPP1R9A	55607	broad.mit.edu	37	chr7	94740690	94740690	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctggaacttttcccagtGgagctagagaaaggttcgtg	11	10	13	7	1	0	1	0	0	0	1	2	4	1	3	1	3	3	3	1	3	4	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:94740690G>T	ENST00000289495.5	+	2	1731	c.1515G>T	c.(1513-1515)gtG>gtT	p.V505V	PPP1R9A_ENST00000456331.2_Silent_p.V505V|PPP1R9A_ENST00000340694.4_Silent_p.V505V|PPP1R9A_ENST00000433360.1_Silent_p.V505V|PPP1R9A_ENST00000433881.1_Silent_p.V505V|PPP1R9A_ENST00000424654.1_Silent_p.V505V	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	505	PDZ.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTTTCCCAGTGGAGCTAGAGA	0.373										HNSCC(28;0.073)			23	46					2.32416e-17	3.17156e-17	1	0	T	94740690	G	T	94740690	2	4	16	1	0	0	0	0	0	0	0	1	12454	1335	47	4		4	PPP1R9A	7	94740690	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	556874	94740690	64397973	221	3559											
PUS7	54517	broad.mit.edu	37	chr7	105111200	105111200	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcgaagcagctgcccttCcacacaccttttgacaggta	9	10	7	15	1	0	1	0	1	0	0	3	2	2	1	4	1	3	3	4	1	2	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:105111200C>A	ENST00000356362.2	-	11	1547	c.1333G>T	c.(1333-1335)Gaa>Taa	p.E445*	PUS7_ENST00000469408.1_Nonsense_Mutation_p.E445*	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	445	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						AGCTGCCCTTCCACACACCTT	0.453													56	89					2.17126e-26	3.20925e-26	1	0	A	105111200	C	A	105111200	4	1	16	1	0	0	0	0	0	1	0	0	12915	864	30	2	676	2	PUS7	7	105111200	Nonsense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	10370510	105111200	54027463	222	3560											
CFTR	1080	broad.mit.edu	37	chr7	117267811	117267811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatttccttctcaataaGtcctggccagagggtgagat	11	11	10	9	0	1	2	1	1	1	2	4	4	3	2	3	2	1	0	3	2	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:117267811G>T	ENST00000003084.6	+	22	3836	c.3704G>T	c.(3703-3705)aGt>aTt	p.S1235I	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.S1174I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1235	ABC transporter 2.		S -> R (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTCTCAATAAGTCCTGGCCAG	0.438									Cystic Fibrosis				11	43					0.00136819	0.0014192	1	0	T	117267811	G	T	117267811	3	4	16	1	0	0	0	0	1	0	0	0	3323	1029	36	4	3790	4	CFTR	7	117267811	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	12156611	117267811	41870852	223	3561											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432538	117432538	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggcacgaagctgttcccGctcagtgtcaaactcagaga	10	9	10	12	2	3	1	3	0	0	1	4	3	4	1	1	1	2	4	1	1	2	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:117432538G>T	ENST00000160373.3	-	4	803	c.712C>A	c.(712-714)Cgg>Agg	p.R238R		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	238										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGCTGTTCCCGCTCAGTGTCA	0.453													13	39					2.27111e-07	2.559e-07	1	0	T	117432538	G	T	117432538	2	4	16	1	0	0	0	0	0	0	0	1	4077	1086	38	3		3	CTTNBP2	7	117432538	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	164727	117432538	41706125	224	3562											
KCND2	3751	broad.mit.edu	37	chr7	119915355	119915355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaactgccctgtggagaGcggtatgctgtggccttctt	8	11	13	9	1	1	2	0	0	1	2	1	3	1	2	2	3	4	2	2	3	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:119915355G>T	ENST00000331113.4	+	1	1634	c.669G>T	c.(667-669)gaG>gaT	p.E223D		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	223					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CCTGTGGAGAGCGGTATGCTG	0.542													27	39					7.41945e-09	8.64927e-09	1	0	T	119915355	G	T	119915355	3	4	16	1	0	0	0	0	1	0	0	0	8072	962	34	4	671	4	KCND2	7	119915355	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2482817	119915355	39223308	225	3563											
GRM8	2918	broad.mit.edu	37	chr7	126173021	126173021	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttaccttttctgctgactgGgctgtaccaaaaaagatggg	10	12	10	9	0	1	2	0	1	1	1	1	2	1	2	2	2	3	3	2	2	5	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:126173021G>T	ENST00000339582.2	-	9	3223	c.2415C>A	c.(2413-2415)gcC>gcA	p.A805A	GRM8_ENST00000358373.3_Silent_p.A805A|GRM8_ENST00000444921.2_Silent_p.A805A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	805					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTGCTGACTGGGCTGTACCAA	0.388										HNSCC(24;0.065)			18	23					1.67942e-08	1.94012e-08	1	0	T	126173021	G	T	126173021	2	4	16	1	0	0	0	0	0	0	0	1	6853	1219	43	4		4	GRM8	7	126173021	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	6257666	126173021	32965642	226	3564											
EXOC4	60412	broad.mit.edu	37	chr7	133502223	133502223	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattgaaggagtcactaaaAcatctgaccctttgaagatt	15	11	8	7	0	2	5	1	3	1	2	2	6	2	6	1	1	1	0	1	1	4	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:133502223A>G	ENST00000253861.4	+	11	1689	c.1660A>G	c.(1660-1662)Aca>Gca	p.T554A	EXOC4_ENST00000539845.1_Missense_Mutation_p.T453A|EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Missense_Mutation_p.T164A	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	554					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGTCACTAAAACATCTGACCC	0.443													18	23					0	0	0	0	G	133502223	A	G	133502223	3	3	16	1	0	0	0	0	1	0	0	0	5343	43	2	5	1711	5	EXOC4	7	133502223	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	7329202	133502223	25636440	227	3565											
DENND2A	27147	broad.mit.edu	37	chr7	140301270	140301270	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagaggaaggtgggggagAggagggcagaggcgggggag	11	1	25	4	1	0	3	0	0	0	3	0	7	0	6	0	9	0	1	0	9	1	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:140301270A>C	ENST00000275884.6	-	2	1345	c.928T>G	c.(928-930)Tct>Gct	p.S310A	DENND2A_ENST00000537639.1_Missense_Mutation_p.S310A|DENND2A_ENST00000496613.1_Missense_Mutation_p.S310A|DENND2A_ENST00000492720.1_Missense_Mutation_p.S310A			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	310								p.S310A(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ggtgggggagaggagggcaga	0.597													14	37					0	0	0	0	C	140301270	A	C	140301270	3	2	16	1	0	0	0	0	1	0	0	0	4466	304	11	5	2173	5	DENND2A	7	140301270	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	6799047	140301270	18837393	228	3566											
OR9A2	135924	broad.mit.edu	37	chr7	142723861	142723861	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagggttacacacagccAcataacggtccacagccatc	14	6	7	14	1	1	0	1	0	0	0	3	0	2	0	3	2	4	1	3	2	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:142723861A>T	ENST00000350513.2	-	1	421	c.359T>A	c.(358-360)gTg>gAg	p.V120E		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					ACACACAGCCACATAACGGTC	0.438													28	57					0	0	0	0	T	142723861	A	T	142723861	3	4	16	1	0	0	0	0	1	0	0	0	11319	159	6	5	577	5	OR9A2	7	142723861	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	2422591	142723861	16414802	229	3567											
TAS2R60	338398	broad.mit.edu	37	chr7	143141256	143141256	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcaggattccgagagccCagtgtgcaggcacacataaa	13	6	10	12	1	1	1	1	0	0	1	2	3	2	2	3	2	2	2	3	2	2	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:143141256C>A	ENST00000332690.1	+	1	711	c.711C>A	c.(709-711)ccC>ccA	p.P237P	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	237					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.P237P(2)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCCGAGAGCCCAGTGTGCAGG	0.483													38	69					2.09667e-21	2.96873e-21	1	0	A	143141256	C	A	143141256	2	1	16	1	0	0	0	0	0	0	0	1	15676	581	21	4		4	TAS2R60	7	143141256	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	417395	143141256	15997407	230	3568											
CNTNAP2	26047	broad.mit.edu	37	chr7	146741075	146741075	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattattgcccgctatgtgcGcatagtgcctctggattgga	7	13	12	9	2	1	0	0	0	1	0	1	3	1	2	2	2	3	2	2	2	3	5	rs138738227	by1000genomes	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:146741075G>C	ENST00000361727.3	+	4	995	c.479G>C	c.(478-480)cGc>cCc	p.R160P		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	160	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R160H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGCTATGTGCGCATAGTGCCT	0.433										HNSCC(39;0.1)			27	79					0	0	0	0	C	146741075	G	C	146741075	3	2	16	1	0	0	0	0	1	0	0	0	3677	1087	38	3	493	3	CNTNAP2	7	146741075	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3599819	146741075	12397588	231	3569											
KCNH2	3757	broad.mit.edu	37	chr7	150644574	150644574	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgactgtccccccagaagctGaaaatgttggacactcctga	11	8	9	13	1	0	3	0	2	0	1	2	5	2	4	4	1	1	2	4	1	3	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:150644574G>A	ENST00000392968.2	-	11	3826	c.2706C>T	c.(2704-2706)ttC>ttT	p.F902F	KCNH2_ENST00000330883.4_Silent_p.F658F|KCNH2_ENST00000262186.5_Silent_p.F998F			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	998					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CCCAGAAGCTGAAAATGTTGG	0.692													5	11					0	0	0	0	A	150644574	G	A	150644574	2	1	16	1	0	0	0	0	0	0	0	1	8085	1281	45	2		2	KCNH2	7	150644574	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3903499	150644574	8494089	232	3570											
DPP6	1804	broad.mit.edu	37	chr7	154684051	154684051	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttccttgcagatttaccCggacgaaagccattacttta	10	12	7	12	2	0	1	0	0	0	1	1	3	1	2	4	1	4	1	4	1	4	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:154684051C>G	ENST00000404039.1	+	26	2854	c.2267C>G	c.(2266-2268)cCg>cGg	p.P756R	DPP6_ENST00000377770.3_Missense_Mutation_p.P820R|DPP6_ENST00000332007.3_Missense_Mutation_p.P758R|DPP6_ENST00000427557.1_Missense_Mutation_p.P713R	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	820					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAGATTTACCCGGACGAAAGC	0.517													30	48					0	0	0	0	G	154684051	C	G	154684051	3	3	16	1	0	0	0	0	1	0	0	0	4766	652	23	3	2677	3	DPP6	7	154684051	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	4039477	154684051	4454612	233	3571											
EN2	2020	broad.mit.edu	37	chr7	155255140	155255140	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcacggcctttaccgccGagcagctgcagaggctcaag	8	5	13	15	5	1	1	1	0	0	1	1	2	1	1	3	2	4	5	3	2	2	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:155255140G>T	ENST00000297375.4	+	2	1009	c.760G>T	c.(760-762)Gag>Tag	p.E254*		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	254						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTTACCGCCGAGCAGCTGCA	0.607													26	85					5.45024e-15	7.22185e-15	1	0	T	155255140	G	T	155255140	4	4	16	1	0	0	0	0	0	1	0	0	5148	1059	37	3	766	3	EN2	7	155255140	Nonsense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	571089	155255140	3883523	234	3572											
WDR60	55112	broad.mit.edu	37	chr7	158718989	158718989	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacccttttctactcaagAaggtacgtgattcttcactt	9	16	5	11	1	5	2	3	1	2	1	5	2	5	2	1	1	2	1	1	1	4	8			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:158718989A>T	ENST00000407559.3	+	18	2527	c.2369A>T	c.(2368-2370)gAa>gTa	p.E790V		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	790										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCTACTCAAGAAGGTACGTGA	0.388													6	12					0	0	0	0	T	158718989	A	T	158718989	3	4	16	1	0	0	0	0	1	0	0	0	17407	246	9	5	2439	5	WDR60	7	158718989	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	3463849	158718989	419674	235	3573											
CSMD1	64478	broad.mit.edu	37	chr8	2820892	2820894	+	In_Frame_Del	DEL	CGG	CGG	-																															tccactgttccattctgcacCggcggcggctgaggacacag																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:2820892_2820894delCGG	ENST00000520002.1	-	61	9862_9864	c.9307_9309delCCG	c.(9307-9309)del	p.P3103del	CSMD1_ENST00000602723.1_In_Frame_Del_p.P2926del|CSMD1_ENST00000602557.1_In_Frame_Del_p.P3103del|CSMD1_ENST00000400186.3_In_Frame_Del_p.P2926del|CSMD1_ENST00000542608.1_In_Frame_Del_p.P2925del|CSMD1_ENST00000537824.1_In_Frame_Del_p.P3102del			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3103	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATTCTGCACCGGCGGCGGCTGA	0.537													39	177	---	---	---	---					-	2820894	CGG	-	2820892	7	5	16	1	0	1	0	1	0	0	0	0	3976	639	23	0	1432	0	CSMD1	8	2820892	In_Frame_Del	DEL	CGG	TCGA-BA-6869-01A-11D-1870-08		2820892	143543130	236	3574											
CSMD1	64478	broad.mit.edu	37	chr8	2820916	2820916	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggctgaggacacagcacGgctatttccaaagaacaaac	14	5	11	11	2	0	2	0	1	0	1	1	3	1	3	1	4	3	3	1	4	4	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:2820916G>T	ENST00000602557.1	-	61	9840	c.9283_splice	c.e61-1	p.A3095_splice	CSMD1_ENST00000537824.1_Splice_Site_p.A3094_splice|CSMD1_ENST00000602723.1_Splice_Site_p.A2918_splice|CSMD1_ENST00000400186.3_Splice_Site_p.A2918_splice|CSMD1_ENST00000542608.1_Splice_Site_p.A2917_splice|CSMD1_ENST00000520002.1_Splice_Site_p.A3095_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3095	Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GACACAGCACGGCTATTTCCA	0.498													51	101					6.56871e-35	1.00574e-34	1	0	T	2820916	G	T	2820916	5	4	16	1	0	0	0	0	0	0	1	0	3976	1130	39	3	1456	3	CSMD1	8	2820916	Splice_Site	SNP	G	TCGA-BA-6869-01A-11D-1870-08	24	2820916	143543106	237	3575											
SPAG11A	653423	broad.mit.edu	37	chr8	7717939	7717939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctttttagggcctagatgGgccaggtgagcattcataaa	10	11	13	7	0	1	2	1	1	0	1	1	2	1	2	2	4	1	2	2	4	4	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:7717939G>T	ENST00000434307.2	+	3	452	c.285G>T	c.(283-285)tgG>tgT	p.W95C	SPAG11A_ENST00000454911.2_Missense_Mutation_p.W42C|SPAG11A_ENST00000326558.5_Intron|SPAG11A_ENST00000351436.4_Intron|SPAG11A_ENST00000326625.5_Intron					sperm associated antigen 11A											central_nervous_system(1)|lung(2)	3				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		GGCCTAGATGGGCCAGGTGAG	0.448													14	52					0.000219431	0.00023098	1	0	T	7717939	G	T	7717939	3	4	16	1	0	0	0	0	1	0	0	0	15066	1247	43	4		4	SPAG11A	8	7717939	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	4897023	7717939	138646083	238	3576											
SOX7	83595	broad.mit.edu	37	chr8	10583781	10583781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgctccggctccagcaCgtccaggggagacatttcag	7	8	13	13	2	2	1	1	0	1	1	5	2	5	1	3	4	2	3	3	4	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:10583781C>A	ENST00000304501.1	-	2	712	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	SOX7_ENST00000553390.1_Missense_Mutation_p.V264L|SOX7_ENST00000554914.1_Missense_Mutation_p.V264L	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	212					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGCTCCAGCACGTCCAGGGGA	0.701													17	25					7.07596e-05	7.49771e-05	1	0	A	10583781	C	A	10583781	3	1	16	1	0	0	0	0	1	0	0	0	15044	536	19	3	536	3	SOX7	8	10583781	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2865842	10583781	135780241	239	3577											
DLC1	10395	broad.mit.edu	37	chr8	12957730	12957730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgagctgcttcagcttctCctcatccatcccctcttgca	5	14	6	16	0	4	1	2	1	2	0	7	1	6	1	4	0	4	5	4	0	0	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:12957730C>T	ENST00000276297.4	-	9	2525	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	DLC1_ENST00000520226.1_Missense_Mutation_p.E195K|DLC1_ENST00000358919.2_Missense_Mutation_p.E269K|DLC1_ENST00000512044.2_Missense_Mutation_p.E303K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	706					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTCAGCTTCTCCTCATCCATC	0.567													21	33					0	0	0	0	T	12957730	C	T	12957730	3	4	16	1	0	0	0	0	1	0	0	0	4587	864	30	2	2510	2	DLC1	8	12957730	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2373949	12957730	133406292	240	3578											
INTS10	55174	broad.mit.edu	37	chr8	19681415	19681415	+	Frame_Shift_Del	DEL	T	T	-																															acatctgatttaatgtcaccTagcaaacgtagctctcagaa																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:19681415delT	ENST00000397977.3	+	7	1094	c.696delT	c.(694-696)ccfs	p.P232fs		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	232					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TAATGTCACCTAGCAAACGTA	0.403													29	53	---	---	---	---					-	19681415	T	-	19681415	7	5	16	1	0	1	0	1	0	0	0	0	7829	1509	53	0	722	0	INTS10	8	19681415	Frame_Shift_Del	DEL	T	TCGA-BA-6869-01A-11D-1870-08	6723685	19681415	126682607	241	3579											
UNC5D	137970	broad.mit.edu	37	chr8	35406851	35406851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccgaatccatcccatcaGctcctgggacactgcctcat	8	10	6	17	1	2	0	2	0	0	0	6	2	6	1	5	1	2	1	5	1	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:35406851G>C	ENST00000287272.2	+	2	165	c.145G>C	c.(145-147)Gct>Cct	p.A49P	UNC5D_ENST00000404895.2_Missense_Mutation_p.A49P|UNC5D_ENST00000416672.1_Missense_Mutation_p.A49P|UNC5D_ENST00000453357.2_Missense_Mutation_p.A44P|UNC5D_ENST00000420357.1_Missense_Mutation_p.A49P			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	49					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATCCCATCAGCTCCTGGGAC	0.483													13	40					0	0	0	0	C	35406851	G	C	35406851	3	2	16	1	0	0	0	0	1	0	0	0	17091	971	34	4	151	4	UNC5D	8	35406851	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	15725436	35406851	110957171	242	3580											
KCNU1	157855	broad.mit.edu	37	chr8	36776389	36776389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatgagaaatcaaactgccGaaaagtccctatccttactg	15	10	6	10	1	1	1	1	1	0	1	3	3	3	1	3	0	3	0	3	0	7	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:36776389G>A	ENST00000399881.3	+	23	2607	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	857						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCAAACTGCCGAAAAGTCCCT	0.358													17	84					0	0	0	0	A	36776389	G	A	36776389	3	1	16	1	0	0	0	0	1	0	0	0	8146	1058	37	1	2660	1	KCNU1	8	36776389	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1369538	36776389	109587633	243	3581											
DDHD2	23259	broad.mit.edu	37	chr8	38095108	38095108	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggaaaaagaaactggaatCtcccaacagagaaattatta	20	8	7	6	0	1	2	0	0	1	2	2	5	1	4	1	2	2	0	1	2	8	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:38095108C>G	ENST00000397166.2	+	4	989	c.464C>G	c.(463-465)tCt>tGt	p.S155C	DDHD2_ENST00000520272.2_Missense_Mutation_p.S155C	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	155					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AAACTGGAATCTCCCAACAGA	0.328													7	14					0	0	0	0	G	38095108	C	G	38095108	3	3	16	1	0	0	0	0	1	0	0	0	4359	913	32	2	474	2	DDHD2	8	38095108	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1318719	38095108	108268914	244	3582											
PXDNL	137902	broad.mit.edu	37	chr8	52287228	52287228	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtcccactcttgtaccAggaatcaggtcttcaaccat	9	12	8	12	0	4	0	2	0	2	0	5	1	5	1	3	3	2	2	3	3	3	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:52287228A>G	ENST00000356297.4	-	18	3721	c.3621T>C	c.(3619-3621)ccT>ccC	p.P1207P	PXDNL_ENST00000543296.1_Silent_p.P1207P	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1207					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTCTTGTACCAGGAATCAGGT	0.483													12	39					0	0	0	0	G	52287228	A	G	52287228	2	3	16	1	0	0	0	0	0	0	0	1	12930	175	7	5		5	PXDNL	8	52287228	Silent	SNP	A	TCGA-BA-6869-01A-11D-1870-08	14192120	52287228	94076794	245	3583											
RP1	6101	broad.mit.edu	37	chr8	55533949	55533950	+	Frame_Shift_Ins	INS	-	-	G																															cgcactcaccgccccaccccINSgtagccgtcgctgctcccgg																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:55533949_55533950insG	ENST00000220676.1	+	2	571_572	c.423_424insG	c.(421-426)cctagcfs	p.S142fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	142					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.V142I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGCCCCACCCCGTAGCCGTCGC	0.698													25	64	---	---	---	---					G	55533950	-	G	55533949	7	5	16	1	0	1	1	0	0	0	0	0	13617	639	23	0	425	0	RP1	8	55533949	Frame_Shift_Ins	INS	-	TCGA-BA-6869-01A-11D-1870-08	3246721	55533949	90830073	246	3584											
EYA1	2138	broad.mit.edu	37	chr8	72182001	72182001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctgttggcgtaggaccCagtaagcaaggagtggaaaa	14	8	13	6	1	1	0	0	0	1	0	1	3	1	3	1	4	1	4	1	4	6	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:72182001C>A	ENST00000340726.3	-	11	1663	c.1024G>T	c.(1024-1026)Ggg>Tgg	p.G342W	EYA1_ENST00000388741.2_Missense_Mutation_p.G308W|EYA1_ENST00000419131.1_Missense_Mutation_p.G337W|EYA1_ENST00000303824.7_Missense_Mutation_p.G336W|EYA1_ENST00000388740.3_Missense_Mutation_p.G309W|EYA1_ENST00000388743.2_Missense_Mutation_p.G341W|EYA1_ENST00000388742.4_Missense_Mutation_p.G342W	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	342					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCGTAGGACCCAGTAAGCAAG	0.398													33	91					6.29468e-14	8.18821e-14	1	0	A	72182001	C	A	72182001	3	1	16	1	0	0	0	0	1	0	0	0	5366	594	21	4	786	4	EYA1	8	72182001	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	16648052	72182001	74182021	247	3585											
EYA1	2138	broad.mit.edu	37	chr8	72229917	72229917	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcttgatgcctgcccaCaatgcacctaaatcagttag	11	11	7	12	0	3	1	2	1	1	0	3	1	3	1	3	0	3	2	3	0	4	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:72229917C>G	ENST00000340726.3	-	7	1065	c.426G>C	c.(424-426)ttG>ttC	p.L142F	EYA1_ENST00000388741.2_Missense_Mutation_p.L108F|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000303824.7_Intron|EYA1_ENST00000388740.3_Missense_Mutation_p.L109F|EYA1_ENST00000388743.2_Missense_Mutation_p.L141F|EYA1_ENST00000388742.4_Missense_Mutation_p.L142F	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	142					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGCCTGCCCACAATGCACCTA	0.423													37	96					0	0	0	0	G	72229917	C	G	72229917	3	3	16	1	0	0	0	0	1	0	0	0	5366	477	17	4	1400	4	EYA1	8	72229917	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	47916	72229917	74134105	248	3586											
MSC	9242	broad.mit.edu	37	chr8	72756070	72756070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcatccgggcacgctcaCgggcgttggccgcgttccgc	3	6	15	17	9	1	0	1	0	0	0	3	0	3	0	3	3	0	5	3	3	0	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:72756070C>T	ENST00000325509.4	-	1	633	c.344G>A	c.(343-345)cGt>cAt	p.R115H	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	115					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GGCACGCTCACGGGCGTTGGC	0.692											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	17					0	0	0	0	T	72756070	C	T	72756070	3	4	16	1	0	0	0	0	1	0	0	0	9938	536	19	1	284	1	MSC	8	72756070	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	526153	72756070	73607952	249	3587											
TRPA1	8989	broad.mit.edu	37	chr8	72951141	72951141	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcactagtttcattgaTgatgccagttgagttgaaag	12	14	10	5	0	2	5	2	5	0	0	2	5	2	5	1	0	1	3	1	0	2	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:72951141T>A	ENST00000262209.4	-	19	2461	c.2254A>T	c.(2254-2256)Atc>Ttc	p.I752F	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	752						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTTTCATTGATGATGCCAGTT	0.299													26	46					0	0	0	0	A	72951141	T	A	72951141	3	1	16	1	0	0	0	0	1	0	0	0	16672	1464	51	5	1141	5	TRPA1	8	72951141	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	195071	72951141	73412881	250	3588											
TPD52	7163	broad.mit.edu	37	chr8	80976829	80976829	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctgttctcagcagacCtggttggggatttaaaccat	8	13	12	8	0	2	1	1	0	2	1	3	2	2	2	2	4	2	3	2	4	2	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:80976829C>A	ENST00000379096.5	-	2	134		c.e2-1		TPD52_ENST00000519303.2_Splice_Site|TPD52_ENST00000517427.1_Splice_Site|TPD52_ENST00000448733.2_Splice_Site|TPD52_ENST00000518937.1_Splice_Site|TPD52_ENST00000379097.3_Splice_Site|TPD52_ENST00000520527.1_Splice_Site|TPD52_ENST00000537855.1_Splice_Site	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52						anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			CTCAGCAGACCTGGTTGGGGA	0.463													40	81					8.69298e-16	1.17126e-15	1	0	A	80976829	C	A	80976829	5	1	16	1	0	0	0	0	0	0	1	0	16492	695	24	4	632	4	TPD52	8	80976829	Splice_Site	SNP	C	TCGA-BA-6869-01A-11D-1870-08	8025688	80976829	65387193	251	3589											
VPS13B	157680	broad.mit.edu	37	chr8	100523713	100523713	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaatttttattccaaaaAcagaagaaatgcagccaact	18	10	5	8	0	1	3	1	0	0	3	2	3	2	3	2	0	4	1	2	0	7	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:100523713A>T	ENST00000358544.2	+	29	4792	c.4681A>T	c.(4681-4683)Aca>Tca	p.T1561S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.T1536S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1561					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATTCCAAAAACAGAAGAAAT	0.343													13	25					0	0	0	0	T	100523713	A	T	100523713	3	4	16	1	0	0	0	0	1	0	0	0	17286	43	2	5	4985	5	VPS13B	8	100523713	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	19546884	100523713	45840309	252	3590											
RIMS2	9699	broad.mit.edu	37	chr8	104898351	104898351	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaaaggcggtaaaatgcgCcagatttcgttgagcagttc	13	9	12	7	3	0	3	0	1	0	2	2	3	0	3	1	2	2	4	1	2	4	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:104898351C>T	ENST00000507740.1	+	2	1184	c.948C>T	c.(946-948)cgC>cgT	p.R316R	RIMS2_ENST00000436393.2_Silent_p.R286R|RIMS2_ENST00000262231.10_Silent_p.R316R|RIMS2_ENST00000406091.3_Silent_p.R508R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	539					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTAAAATGCGCCAGATTTCGT	0.423										HNSCC(12;0.0054)			13	24					0	0	0	0	T	104898351	C	T	104898351	2	4	16	1	0	0	0	0	0	0	0	1	13453	726	26	4		4	RIMS2	8	104898351	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	4374638	104898351	41465671	253	3591											
RIMS2	9699	broad.mit.edu	37	chr8	104922385	104922385	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acatggattacaactggttgGatcatacgtcttggcatagc	11	12	10	8	1	2	0	1	0	1	0	2	2	2	2	0	4	4	2	0	4	4	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:104922385G>C	ENST00000507740.1	+	3	1308	c.1072G>C	c.(1072-1074)Gat>Cat	p.D358H	RIMS2_ENST00000436393.2_Missense_Mutation_p.D328H|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Missense_Mutation_p.D550H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	617					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAACTGGTTGGATCATACGTC	0.393										HNSCC(12;0.0054)			32	91					0	0	0	0	C	104922385	G	C	104922385	3	2	16	1	0	0	0	0	1	0	0	0	13453	1174	41	2	1792	2	RIMS2	8	104922385	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	24034	104922385	41441637	254	3592											
PKHD1L1	93035	broad.mit.edu	37	chr8	110455181	110455181	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattttatggcaggttcatTttcttaccaatttacttctc	8	20	4	9	0	4	0	2	0	2	0	5	0	4	0	1	2	2	2	1	2	4	9			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:110455181T>A	ENST00000378402.5	+	36	4504	c.4400T>A	c.(4399-4401)tTt>tAt	p.F1467Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1467	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCAGGTTCATTTTCTTACCAA	0.318										HNSCC(38;0.096)			21	36					0	0	0	0	A	110455181	T	A	110455181	3	1	16	1	0	0	0	0	1	0	0	0	12044	1841	64	5	4542	5	PKHD1L1	8	110455181	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	5532796	110455181	35908841	255	3593											
CSMD3	114788	broad.mit.edu	37	chr8	113267587	113267587	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctgaatgaaacctctGactggtatataaagcttttg	12	13	9	7	0	1	3	0	3	1	0	1	3	1	3	1	1	4	4	1	1	6	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:113267587G>T	ENST00000297405.5	-	62	10176	c.9932C>A	c.(9931-9933)tCa>tAa	p.S3311*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S3241*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S3142*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S3271*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3311	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAAACCTCTGACTGGTATAT	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	50					1.42536e-11	1.77476e-11	1	0	T	113267587	G	T	113267587	4	4	16	1	0	0	0	0	0	1	0	0	3978	1294	45	2	1231	2	CSMD3	8	113267587	Nonsense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2812406	113267587	33096435	256	3594											
CSMD3	114788	broad.mit.edu	37	chr8	113668416	113668416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaaccattattggaacGactgttgtctgttgtaaata	12	15	8	6	1	1	1	0	1	1	0	1	3	1	2	1	1	2	3	1	1	6	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:113668416G>T	ENST00000297405.5	-	18	3215	c.2971C>A	c.(2971-2973)Cgt>Agt	p.R991S	CSMD3_ENST00000352409.3_Missense_Mutation_p.R991S|CSMD3_ENST00000455883.2_Missense_Mutation_p.R887S|CSMD3_ENST00000343508.3_Missense_Mutation_p.R951S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	991	CUB 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTATTGGAACGACTGTTGTCT	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	70					4.7796e-09	5.59222e-09	1	0	T	113668416	G	T	113668416	3	4	16	1	0	0	0	0	1	0	0	0	3978	1058	37	3	8368	3	CSMD3	8	113668416	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	400829	113668416	32695606	257	3595											
FER1L6	654463	broad.mit.edu	37	chr8	124978246	124978246	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattaaactttcttttaataGatcaaaactgttgactaaga	16	16	4	5	0	2	3	1	1	1	2	2	3	2	3	0	0	2	1	0	0	8	8			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:124978246G>A	ENST00000522917.1	+	4	403		c.e4-1		FER1L6_ENST00000399018.1_Splice_Site	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)							integral to membrane		p.?(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTTTTAATAGATCAAAACTG	0.358													6	21					0	0	0	0	A	124978246	G	A	124978246	5	1	16	1	0	0	0	0	0	0	1	0	5860	956	33	2	207	2	FER1L6	8	124978246	Splice_Site	SNP	G	TCGA-BA-6869-01A-11D-1870-08	11309830	124978246	21385776	258	3596											
KCNQ3	3786	broad.mit.edu	37	chr8	133175730	133175730	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctggatgctgcctccAgctgttctttcctagaaaga	8	13	8	12	0	1	2	0	0	1	2	3	3	3	3	4	1	4	3	4	1	3	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:133175730A>T	ENST00000388996.4	-	9	1667	c.1247T>A	c.(1246-1248)cTg>cAg	p.L416Q	KCNQ3_ENST00000519445.1_Missense_Mutation_p.L416Q|KCNQ3_ENST00000521134.1_Missense_Mutation_p.L296Q	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	416					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGCTGCCTCCAGCTGTTCTTT	0.443													22	48					0	0	0	0	T	133175730	A	T	133175730	3	4	16	1	0	0	0	0	1	0	0	0	8137	188	7	5	1399	5	KCNQ3	8	133175730	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	8197484	133175730	13188292	259	3597											
FAM135B	51059	broad.mit.edu	37	chr8	139263091	139263091	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaacttcatacctgatcaAtggctgctgcagagccacca	11	9	8	13	0	2	3	2	2	0	1	2	3	2	3	3	1	5	3	3	1	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:139263091A>G	ENST00000395297.1	-	6	705	c.535T>C	c.(535-537)Ttg>Ctg	p.L179L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	179										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TACCTGATCAATGGCTGCTGC	0.562										HNSCC(54;0.14)			30	50					0	0	0	0	G	139263091	A	G	139263091	2	3	16	1	0	0	0	0	0	0	0	1	5490	98	4	5		5	FAM135B	8	139263091	Silent	SNP	A	TCGA-BA-6869-01A-11D-1870-08	6087361	139263091	7100931	260	3598											
COL22A1	169044	broad.mit.edu	37	chr8	139833498	139833498	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcaatgtgcagggagaCgttctgggcctggatgctca	9	9	14	9	1	3	1	2	0	1	1	3	3	3	2	1	3	2	3	1	3	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:139833498C>A	ENST00000303045.6	-	7	1572	c.1126G>T	c.(1126-1128)Gtc>Ttc	p.V376F	COL22A1_ENST00000435777.1_Missense_Mutation_p.V376F	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	376	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGCAGGGAGACGTTCTGGGCC	0.562										HNSCC(7;0.00092)			21	45					4.96729e-08	5.6769e-08	1	0	A	139833498	C	A	139833498	3	1	16	1	0	0	0	0	1	0	0	0	3711	536	19	3	3990	3	COL22A1	8	139833498	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	570407	139833498	6530524	261	3599											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18474230	18474230	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattccggcaaggatccaagCatggaatgctgccgtcgggc	9	7	14	11	3	0	0	0	0	0	0	3	3	2	2	3	4	3	3	3	4	3	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:18474230C>A	ENST00000380548.4	+	0	339				ADAMTSL1_ENST00000431052.2_De_novo_Start_InFrame|ADAMTSL1_ENST00000380566.4_De_novo_Start_InFrame|ADAMTSL1_ENST00000327883.7_De_novo_Start_InFrame|ADAMTSL1_ENST00000276935.6_Intron|ADAMTSL1_ENST00000380570.4_De_novo_Start_InFrame	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1							proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGGATCCAAGCATGGAATGCT	0.512													38	36					1.07121e-22	1.53372e-22	1	0	A	18474230	C	A	18474230	1	1	16	1	0	0	0	0	0	0	0	0	274	725	25	4		4	ADAMTSL1	9	18474230	Translation_Start_Site	SNP	C	TCGA-BA-6869-01A-11D-1870-08		18474230	122739201	262	3600											
RUSC2	9853	broad.mit.edu	37	chr9	35556330	35556330	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagtgaagccgttaccactGacctgccctgacttccagga	9	8	10	14	1	0	3	0	3	0	0	1	4	1	4	5	1	3	2	5	1	2	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:35556330G>A	ENST00000455600.1	+	5	3437	c.2868G>A	c.(2866-2868)ctG>ctA	p.L956L		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	956						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CGTTACCACTGACCTGCCCTG	0.542													27	48					0	0	0	0	A	35556330	G	A	35556330	2	1	16	1	0	0	0	0	0	0	0	1	13836	1277	45	2		2	RUSC2	9	35556330	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	17082100	35556330	105657101	263	3601											
ZNF462	58499	broad.mit.edu	37	chr9	109691071	109691071	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcccgagatgaccactgaAgtgagcccttcccaagtctc	10	7	10	14	1	1	4	0	3	1	1	3	6	2	4	4	0	2	0	4	0	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:109691071A>G	ENST00000277225.5	+	3	5167	c.4878A>G	c.(4876-4878)gaA>gaG	p.E1626E	ZNF462_ENST00000457913.1_Silent_p.E1626E|ZNF462_ENST00000441147.2_Silent_p.E471E			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1626					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGACCACTGAAGTGAGCCCTT	0.557													23	62					0	0	0	0	G	109691071	A	G	109691071	2	3	16	1	0	0	0	0	0	0	0	1	18021	69	3	5		5	ZNF462	9	109691071	Silent	SNP	A	TCGA-BA-6869-01A-11D-1870-08	74134741	109691071	31522360	264	3602											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112898559	112898559	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatgtaaaagtgttccTggaatcacctctaccccaca	13	9	7	12	0	2	1	1	0	1	1	3	2	3	2	4	1	1	3	4	1	5	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:112898559T>G	ENST00000374530.3	+	8	915	c.735T>G	c.(733-735)ccT>ccG	p.P245P	AKAP2_ENST00000259318.7_Silent_p.P14P|AKAP2_ENST00000434623.2_Silent_p.P103P|AKAP2_ENST00000374525.1_Silent_p.P103P|AKAP2_ENST00000510514.5_Silent_p.P245P|PALM2-AKAP2_ENST00000302798.7_Silent_p.P245P|AKAP2_ENST00000555236.1_Silent_p.P245P	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		14							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AAAGTGTTCCTGGAATCACCT	0.502													31	88					0	0	0	0	G	112898559	T	G	112898559	2	3	16	1	0	0	0	0	0	0	0	1	11481	1567	55	5		5	PALM2-AKAP2	9	112898559	Silent	SNP	T	TCGA-BA-6869-01A-11D-1870-08	3207488	112898559	28314872	265	3603											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899252	112899252	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaatggtggaatcccccGcaggaaaaaaccatcgagga	16	4	11	10	2	0	0	0	0	0	0	2	4	1	3	3	4	1	2	3	4	6	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:112899252G>T	ENST00000374530.3	+	8	1608	c.1428G>T	c.(1426-1428)ccG>ccT	p.P476P	AKAP2_ENST00000259318.7_Silent_p.P245P|AKAP2_ENST00000434623.2_Silent_p.P334P|AKAP2_ENST00000374525.1_Silent_p.P334P|AKAP2_ENST00000510514.5_Silent_p.P476P|PALM2-AKAP2_ENST00000302798.7_Silent_p.P476P|AKAP2_ENST00000555236.1_Silent_p.P476P	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		245							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GGAATCCCCCGCAGGAAAAAA	0.542													18	42					5.3912e-06	5.87797e-06	1	0	T	112899252	G	T	112899252	2	4	16	1	0	0	0	0	0	0	0	1	11481	1074	38	3		3	PALM2-AKAP2	9	112899252	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	693	112899252	28314179	266	3604											
ASTN2	23245	broad.mit.edu	37	chr9	119202971	119202971	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtggtgctggactcggaaCagcatcgaggctgagacctc	9	8	14	10	2	0	1	0	1	0	1	3	5	0	3	1	4	3	3	1	4	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:119202971C>A	ENST00000313400.4	-	22	3799	c.3699G>T	c.(3697-3699)ctG>ctT	p.L1233L	ASTN2_ENST00000361209.2_Silent_p.L1182L|ASTN2_ENST00000341734.4_Silent_p.L285L|ASTN2_ENST00000373996.3_Silent_p.L1229L|ASTN2_ENST00000288520.5_Silent_p.L334L|ASTN2_ENST00000361477.3_Silent_p.L285L			O75129	ASTN2_HUMAN	astrotactin 2	1233						integral to membrane		p.L1182L(1)|p.L285L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGACTCGGAACAGCATCGAGG	0.498													28	75					3.73808e-20	5.23495e-20	1	0	A	119202971	C	A	119202971	2	1	16	1	0	0	0	0	0	0	0	1	1069	465	17	4		4	ASTN2	9	119202971	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	6303719	119202971	22010460	267	3605											
TLR4	7099	broad.mit.edu	37	chr9	120470943	120470943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacctgagctttaatcccCtgaggcatttaggcagctat	9	12	10	10	0	0	2	0	2	0	0	1	3	1	3	3	3	2	4	3	3	3	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:120470943C>T	ENST00000355622.6	+	2	297	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Silent_p.L26L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	66					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTTTAATCCCCTGAGGCATTT	0.443													52	132					0	0	0	0	T	120470943	C	T	120470943	2	4	16	1	0	0	0	0	0	0	0	1	16047	680	24	4		4	TLR4	9	120470943	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1267972	120470943	20742488	268	3606											
OR1L1	26737	broad.mit.edu	37	chr9	125424532	125424532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccatcactttttctgcGatgatcaaccagtgctaaaa	12	13	5	11	1	4	1	3	1	1	0	5	2	5	1	2	0	3	1	2	0	3	3	rs142065229		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:125424532G>T	ENST00000373686.1	+	1	688	c.688G>T	c.(688-690)Gat>Tat	p.D230Y				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CTTTTTCTGCGATGATCAACC	0.428													59	123					4.96213e-28	7.40272e-28	1	0	T	125424532	G	T	125424532	3	4	16	1	0	0	0	0	1	0	0	0	11034	1058	37	3	540	3	OR1L1	9	125424532	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	4953589	125424532	15788899	269	3607											
ADAMTS13	11093	broad.mit.edu	37	chr9	136302011	136302011	+	Frame_Shift_Del	DEL	G	G	-																															gccaggaccgacggccagccGctgcgctcctcccctggcgg																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:136302011delG	ENST00000371929.3	+	12	1815	c.1371delG	c.(1369-1371)ccfs	p.P457fs	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Frame_Shift_Del_p.P426fs|ADAMTS13_ENST00000355699.2_Frame_Shift_Del_p.P457fs|ADAMTS13_ENST00000536611.1_Frame_Shift_Del_p.P129fs	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	457			P -> L (in dbSNP:rs36220240).		cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACGGCCAGCCGCTGCGCTCCT	0.697													5	7	---	---	---	---					-	136302011	G	-	136302011	7	5	16	1	0	1	0	1	0	0	0	0	258	1074	38	0	1417	0	ADAMTS13	9	136302011	Frame_Shift_Del	DEL	G	TCGA-BA-6869-01A-11D-1870-08	10877479	136302011	4911420	270	3608											
SEPHS1	22929	broad.mit.edu	37	chr10	13378324	13378324	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccattgcatagaggtcactGaggacattggcacacgctat	11	9	10	11	1	1	2	1	1	0	1	1	3	1	3	1	3	1	3	1	3	2	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:13378324G>A	ENST00000327347.5	-	4	699	c.324C>T	c.(322-324)ctC>ctT	p.L108L	SEPHS1_ENST00000378614.4_Silent_p.L108L|SEPHS1_ENST00000545675.1_Silent_p.L108L|SEPHS1_ENST00000537130.1_Silent_p.L41L	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	108					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						AGAGGTCACTGAGGACATTGG	0.517													10	69					0	0	0	0	A	13378324	G	A	13378324	2	1	16	1	0	0	0	0	0	0	0	1	14141	1277	45	2		2	SEPHS1	10	13378324	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08		13378324	122156423	271	3609											
C1QL3	389941	broad.mit.edu	37	chr10	16562732	16562732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgatggccccggccgcGttcaggccgggcgccccggg	2	4	18	17	7	1	1	1	1	0	0	1	1	1	1	6	5	0	2	6	5	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:16562732G>A	ENST00000298943.3	-	1	1272	c.333C>T	c.(331-333)aaC>aaT	p.N111N		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	111	Collagen-like.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCCCGGCCGCGTTCAggccgg	0.761													6	48					0	0	0	0	A	16562732	G	A	16562732	2	1	16	1	0	0	0	0	0	0	0	1	1979	1136	40	1		1	C1QL3	10	16562732	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3184408	16562732	118972015	272	3610											
CUBN	8029	broad.mit.edu	37	chr10	16870935	16870935	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgacaagccttccagCaggagcaacaaggacccact	13	5	11	12	0	0	1	0	1	0	0	1	4	1	3	3	3	4	2	3	3	3	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:16870935C>G	ENST00000377833.4	-	66	10698	c.10633G>C	c.(10633-10635)Gct>Cct	p.A3545P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3545	CUB 27.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCCTTCCAGCAGGAGCAACA	0.522													65	44					0	0	0	0	G	16870935	C	G	16870935	3	3	16	1	0	0	0	0	1	0	0	0	4083	710	25	4	246	4	CUBN	10	16870935	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	308203	16870935	118663812	273	3611											
CUBN	8029	broad.mit.edu	37	chr10	16916401	16916401	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcaccttgtcgtcactaaCggtgatggtatacagacagt	11	11	10	9	2	2	2	2	1	0	1	3	3	2	2	1	2	2	1	1	2	3	4	rs144314567		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:16916401C>A	ENST00000377833.4	-	58	9273	c.9208G>T	c.(9208-9210)Gtt>Ttt	p.V3070F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3070	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCGTCACTAACGGTGATGGTA	0.403													27	156					0.000117367	0.000123952	1	0	A	16916401	C	A	16916401	3	1	16	1	0	0	0	0	1	0	0	0	4083	536	19	3	1703	3	CUBN	10	16916401	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	45466	16916401	118618346	274	3612											
ARHGAP21	57584	broad.mit.edu	37	chr10	24880577	24880577	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaatacttacaagaggCtcttcagcaccttcttctgt	11	12	6	12	0	4	2	1	0	3	2	4	2	4	2	1	1	3	2	1	1	4	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:24880577C>A	ENST00000396432.2	-	23	4524	c.4038G>T	c.(4036-4038)gaG>gaT	p.E1346D	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E1133D	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1345					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTACAAGAGGCTCTTCAGCAC	0.393													33	161					8.73648e-17	1.18461e-16	1	0	A	24880577	C	A	24880577	3	1	16	1	0	0	0	0	1	0	0	0	873	796	28	4	1854	4	ARHGAP21	10	24880577	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	7964176	24880577	110654170	275	3613											
GPR158	57512	broad.mit.edu	37	chr10	25885717	25885717	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggatccagaggacattcGggtaatgccagtactctatc	10	11	10	10	1	1	1	0	0	1	1	4	3	2	3	2	3	2	2	2	3	3	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:25885717G>A	ENST00000376351.3	+	10	2503	c.2145_splice	c.e10+1	p.R715_splice	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	715						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGGACATTCGGGTAATGCCA	0.488													87	63					0	0	0	0	A	25885717	G	A	25885717	5	1	16	1	0	0	0	0	0	0	1	0	6712	1130	39	1	2182	1	GPR158	10	25885717	Splice_Site	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1005140	25885717	109649030	276	3614											
RET	5979	broad.mit.edu	37	chr10	43608405	43608405	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatttgccctcaggacTgcctccgtaagcagggttta	9	11	9	12	1	2	0	2	0	0	0	3	1	3	1	3	2	4	3	3	2	3	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:43608405T>A	ENST00000355710.3	+	9	1985	c.1753T>A	c.(1753-1755)Tgc>Agc	p.C585S	RET_ENST00000340058.5_Missense_Mutation_p.C585S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	585					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCCTCAGGACTGCCTCCGTAA	0.572		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				13	27					0	0	0	0	A	43608405	T	A	43608405	3	1	16	1	0	0	0	0	1	0	0	0	13317	1580	55	5	1787	5	RET	10	43608405	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	17722688	43608405	91926342	277	3615											
SGMS1	259230	broad.mit.edu	37	chr10	52103623	52103623	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtctacgccaatgttgagGtgcccattggcatggccgtt	7	12	12	10	2	1	1	0	1	1	0	1	1	1	1	3	3	2	3	3	3	2	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:52103623G>A	ENST00000361781.2	-	7	1211	c.252C>T	c.(250-252)caC>caT	p.H84H	SGMS1_ENST00000361543.2_Silent_p.H84H|SGMS1_ENST00000429490.1_Intron	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	90					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CAATGTTGAGGTGCCCATTGG	0.512													22	54					0	0	0	0	A	52103623	G	A	52103623	2	1	16	1	0	0	0	0	0	0	0	1	14301	1252	44	4		4	SGMS1	10	52103623	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	8495218	52103623	83431124	278	3616											
ANK3	288	broad.mit.edu	37	chr10	61828625	61828625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacaagctttaaggtctcaCcactaattcccttaaaatat	14	12	3	12	0	1	0	1	0	1	0	3	0	2	0	3	1	1	1	3	1	6	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:61828625C>T	ENST00000280772.1	-	37	12205	c.12014G>A	c.(12013-12015)gGt>gAt	p.G4005D	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4005					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAAGGTCTCACCACTAATTCC	0.433													38	88					0	0	0	0	T	61828625	C	T	61828625	3	4	16	1	0	0	0	0	1	0	0	0	622	507	18	4	1460	4	ANK3	10	61828625	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	9725002	61828625	73706122	279	3617											
LRRTM3	347731	broad.mit.edu	37	chr10	68687991	68687991	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcctgctggttatctaCgtgtcatggaagcggtaccc	7	12	11	11	2	3	0	2	0	1	0	4	1	4	1	2	3	4	3	2	3	4	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:68687991C>G	ENST00000361320.4	+	2	1895	c.1317C>G	c.(1315-1317)taC>taG	p.Y439*	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	439						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGGTTATCTACGTGTCATGGA	0.542													26	86					0	0	0	0	G	68687991	C	G	68687991	4	3	16	1	0	0	0	0	0	1	0	0	9105	547	19	3	1323	3	LRRTM3	10	68687991	Nonsense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	6859366	68687991	66846756	280	3618											
GRID1	2894	broad.mit.edu	37	chr10	87487768	87487768	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctttgtagcgcttgggCtgtcctaggatgttctcagc	6	13	11	11	1	1	0	1	0	1	0	3	1	2	1	2	2	3	4	2	2	3	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:87487768C>A	ENST00000327946.7	-	10	1462	c.1377G>T	c.(1375-1377)caG>caT	p.Q459H	GRID1_ENST00000536331.1_Missense_Mutation_p.Q30H	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	459						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGCGCTTGGGCTGTCCTAGGA	0.473										Multiple Myeloma(13;0.14)			38	54					1.22674e-20	1.72933e-20	1	0	A	87487768	C	A	87487768	3	1	16	1	0	0	0	0	1	0	0	0	6821	796	28	4	1680	4	GRID1	10	87487768	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	18799777	87487768	48046979	281	3619											
IFIT5	24138	broad.mit.edu	37	chr10	91177811	91177811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaccaacttcttctttcctGcatcaccagatgggactttg	9	13	6	13	0	3	1	1	0	2	1	4	2	4	2	3	1	2	1	3	1	1	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:91177811G>A	ENST00000371795.4	+	2	1068	c.855G>A	c.(853-855)ctG>ctA	p.L285L	IFIT5_ENST00000416601.1_Silent_p.L237L	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	285							binding			endometrium(1)|large_intestine(4)|lung(4)	9						CTTCTTTCCTGCATCACCAGA	0.423													33	35					0	0	0	0	A	91177811	G	A	91177811	2	1	16	1	0	0	0	0	0	0	0	1	7578	1306	46	4		4	IFIT5	10	91177811	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3690043	91177811	44356936	282	3620											
PLCE1	51196	broad.mit.edu	37	chr10	95995801	95995801	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagctgcaatcgaagtctgGagacagacgaggaggacagc	13	4	16	8	2	1	2	0	0	1	2	2	8	1	5	0	4	3	2	0	4	2	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:95995801G>T	ENST00000260766.3	+	7	2978	c.2344G>T	c.(2344-2346)Gag>Tag	p.E782*	PLCE1_ENST00000371385.3_Nonsense_Mutation_p.E474*|PLCE1_ENST00000371380.2_Nonsense_Mutation_p.E782*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.E474*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	782	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCGAAGTCTGGAGACAGACGA	0.468													15	16					1.3612e-06	1.50983e-06	1	0	T	95995801	G	T	95995801	4	4	16	1	0	0	0	0	0	1	0	0	12106	1175	41	2	2652	2	PLCE1	10	95995801	Nonsense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	4817990	95995801	39538946	283	3621											
CYP2C8	1558	broad.mit.edu	37	chr10	96796938	96796938	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagagaaacaatcccttTggtaactgcagtagtattga	13	11	10	7	0	0	2	0	1	0	1	1	3	1	2	1	2	3	5	1	2	5	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:96796938T>G	ENST00000371270.3	-	9	1514	c.1420A>C	c.(1420-1422)Aaa>Caa	p.K474Q	CYP2C8_ENST00000535898.1_Missense_Mutation_p.K372Q	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	474					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ACAATCCCTTTGGTAACTGCA	0.428													13	24					0	0	0	0	G	96796938	T	G	96796938	3	3	16	1	0	0	0	0	1	0	0	0	4199	1821	63	5	56	5	CYP2C8	10	96796938	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	801137	96796938	38737809	284	3622											
SLIT1	6585	broad.mit.edu	37	chr10	98770785	98770785	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaggcaggagtagctgttGacttcatccatacactgggc	10	9	12	10	0	1	2	1	1	0	1	2	3	2	3	1	3	2	4	1	3	2	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:98770785G>C	ENST00000266058.4	-	31	3551	c.3306C>G	c.(3304-3306)gtC>gtG	p.V1102V	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.V1102V	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1102	EGF-like 5.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGTAGCTGTTGACTTCATCCA	0.592													6	18					0	0	0	0	C	98770785	G	C	98770785	2	2	16	1	0	0	0	0	0	0	0	1	14827	1277	45	2		2	SLIT1	10	98770785	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1973847	98770785	36763962	285	3623											
SEC31B	25956	broad.mit.edu	37	chr10	102256959	102256959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccagccgctccacactcCctgagcacacataacagagt	12	5	6	18	1	0	2	0	1	0	1	2	2	2	2	5	0	3	2	5	0	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:102256959C>A	ENST00000370345.3	-	17	2166	c.2069G>T	c.(2068-2070)gGg>gTg	p.G690V		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	690					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTCCACACTCCCTGAGCACAC	0.582													15	43					7.93312e-07	8.84529e-07	1	0	A	102256959	C	A	102256959	3	1	16	1	0	0	0	0	1	0	0	0	14086	623	22	4	1510	4	SEC31B	10	102256959	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	3486174	102256959	33277788	286	3624											
CALHM1	255022	broad.mit.edu	37	chr10	105218107	105218107	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgcccagtgcgctcacGggcacggcagtgcagaaggc	7	5	15	14	4	1	1	1	0	0	1	1	1	1	1	2	3	3	5	2	3	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:105218107G>A	ENST00000329905.5	-	1	538	c.402C>T	c.(400-402)ccC>ccT	p.P134P	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	134						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GTGCGCTCACGGGCACGGCAG	0.706													10	17					0	0	0	0	A	105218107	G	A	105218107	2	1	16	1	0	0	0	0	0	0	0	1	2607	1103	39	1		1	CALHM1	10	105218107	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2961148	105218107	30316640	287	3625											
NRAP	4892	broad.mit.edu	37	chr10	115350515	115350515	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgggaccgactcttggcaAagtccttcttgtactcattg	8	13	9	11	1	3	0	1	0	2	0	4	2	4	1	2	2	1	2	2	2	2	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:115350515A>G	ENST00000369358.4	-	40	5046	c.4802T>C	c.(4801-4803)tTt>tCt	p.F1601S	NRAP_ENST00000360478.3_Missense_Mutation_p.F1558S|NRAP_ENST00000359988.3_Missense_Mutation_p.F1593S|NRAP_ENST00000369360.3_Missense_Mutation_p.F1566S			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1593						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ACTCTTGGCAAAGTCCTTCTT	0.577													26	63					0	0	0	0	G	115350515	A	G	115350515	3	3	16	1	0	0	0	0	1	0	0	0	10709	14	1	5	426	5	NRAP	10	115350515	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	10132408	115350515	20184232	288	3626											
ATRNL1	26033	broad.mit.edu	37	chr10	117061411	117061411	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaaagccatgctctctGaggacatcatgttccaactg	12	10	8	11	0	2	1	1	1	1	0	4	2	3	2	2	1	4	3	2	1	3	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:117061411G>T	ENST00000355044.3	+	17	2802	c.2676G>T	c.(2674-2676)ctG>ctT	p.L892L	ATRNL1_ENST00000423111.2_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	892	PSI 4.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CATGCTCTCTGAGGACATCAT	0.378													16	48					0.000308642	0.000323821	1	0	T	117061411	G	T	117061411	2	4	16	1	0	0	0	0	0	0	0	1	1211	1277	45	2		2	ATRNL1	10	117061411	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1710896	117061411	18473336	289	3627											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118386463	118386463	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacccaagccgtgcaaaacaTtcgggttgttggggcggaga	10	7	14	10	3	0	1	0	0	0	1	1	2	0	1	2	4	3	3	2	4	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:118386463T>A	ENST00000537242.1	+	0	445				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GTGCAAAACATTCGGGTTGTT	0.557													8	11					0	0	0	0	A	118386463	T	A	118386463	1	1	16	0	1	0	0	0	0	0	0	0	12223	1493	52	5		5	PNLIPRP2	10	118386463	RNA	SNP	T	TCGA-BA-6869-01A-11D-1870-08	1325052	118386463	17148284	290	3628											
BTBD16	118663	broad.mit.edu	37	chr10	124036332	124036332	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcggctggaacgccgggtCactggctcaaccaaccggtg	7	6	14	14	4	2	0	2	0	0	0	3	1	2	1	3	5	3	3	3	5	3	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:124036332C>A	ENST00000368994.2	+	3	299	c.48C>A	c.(46-48)gtC>gtA	p.V16V	BTBD16_ENST00000260723.4_Silent_p.V15V			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	15										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AACGCCGGGTCACTGGCTCAA	0.478													22	92					1.96292e-10	2.36586e-10	1	0	A	124036332	C	A	124036332	2	1	16	1	0	0	0	0	0	0	0	1	1549	813	29	2		2	BTBD16	10	124036332	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	5649869	124036332	11498415	291	3629											
DMBT1	1755	broad.mit.edu	37	chr10	124399936	124399936	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatactccaatgacttcacGtctttgacttatgatctaat	11	15	4	11	1	3	3	1	3	2	0	4	3	4	3	2	0	1	0	2	0	4	5	rs112912048		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:124399936G>C	ENST00000368909.3	+	52	7042	c.6936G>C	c.(6934-6936)acG>acC	p.T2312T	DMBT1_ENST00000368956.2_Silent_p.T1684T|DMBT1_ENST00000344338.3_Silent_p.T2302T|DMBT1_ENST00000359586.6_Silent_p.T1032T|DMBT1_ENST00000330163.4_Silent_p.T1684T|DMBT1_ENST00000338354.3_Silent_p.T2312T|DMBT1_ENST00000368955.3_Silent_p.T2302T	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2312	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGACTTCACGTCTTTGACTT	0.458													19	40					0	0	0	0	C	124399936	G	C	124399936	2	2	16	1	0	0	0	0	0	0	0	1	4614	1132	40	3		3	DMBT1	10	124399936	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	363604	124399936	11134811	292	3630											
FAM53B	9679	broad.mit.edu	37	chr10	126370314	126370314	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgctggagcgtctcgcCagctctggtgttgaggcagg	5	8	17	11	3	2	1	0	1	2	0	3	2	2	2	2	5	2	4	2	5	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:126370314C>A	ENST00000337318.3	-	4	979	c.768G>T	c.(766-768)ctG>ctT	p.L256L	FAM53B_ENST00000392754.3_Silent_p.L256L|FAM53B_ENST00000280780.6_Silent_p.L256L|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	256										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGCGTCTCGCCAGCTCTGGTG	0.587													4	13					3.59834e-05	3.83823e-05	1	0	A	126370314	C	A	126370314	2	1	16	1	0	0	0	0	0	0	0	1	5627	581	21	4		4	FAM53B	10	126370314	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1970378	126370314	9164433	293	3631											
ADAM8	101	broad.mit.edu	37	chr10	135086312	135086312	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcccaccttgtccacgTgattcaccacctccagcacc	7	8	6	20	2	1	1	1	1	0	0	3	1	3	1	7	0	2	2	7	0	0	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:135086312T>A	ENST00000445355.3	-	8	745	c.695A>T	c.(694-696)cAc>cTc	p.H232L	ADAM8_ENST00000415217.3_Missense_Mutation_p.H232L|ADAM8_ENST00000485491.2_Missense_Mutation_p.H193L	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	193					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CTTGTCCACGTGATTCACCAC	0.672													14	23					0	0	0	0	A	135086312	T	A	135086312	3	1	16	1	0	0	0	0	1	0	0	0	252	1696	59	5	1761	5	ADAM8	10	135086312	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	8715998	135086312	448435	294	3632											
PHRF1	57661	broad.mit.edu	37	chr11	608731	608731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggaggacgtcccggtcgcGgtcggggagccctggcagct	4	5	18	14	6	0	0	0	0	0	0	3	3	1	3	3	7	2	2	3	7	0	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:608731G>T	ENST00000264555.5	+	14	3403	c.3275G>T	c.(3274-3276)cGg>cTg	p.R1092L	PHRF1_ENST00000413872.2_Missense_Mutation_p.R1090L|PHRF1_ENST00000533464.1_Missense_Mutation_p.R1088L|PHRF1_ENST00000416188.2_Missense_Mutation_p.R1091L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1092	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCCCGGTCGCGGTCGGGGAGC	0.632													12	19					1.61879e-10	1.95477e-10	1	0	T	608731	G	T	608731	3	4	16	1	0	0	0	0	1	0	0	0	11933	1116	39	3	3322	3	PHRF1	11	608731	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08		608731	134397785	295	3633											
MUC2	4583	broad.mit.edu	37	chr11	1078313	1078313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggaacatgcagaagatcaaCcagcccgatgtggtgtgtga	12	7	14	8	1	1	3	1	1	0	2	1	5	1	4	2	2	4	1	2	2	3	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:1078313C>A	ENST00000441003.2	+	5	627	c.600C>A	c.(598-600)aaC>aaA	p.N200K	MUC2_ENST00000359061.5_Missense_Mutation_p.N200K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	200	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGAAGATCAACCAGCCCGATG	0.662													27	69					1.7881e-09	2.11531e-09	1	0	A	1078313	C	A	1078313	3	1	16	1	0	0	0	0	1	0	0	0	10045	506	18	4	618	4	MUC2	11	1078313	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	469582	1078313	133928203	296	3634											
OR52I2	143502	broad.mit.edu	37	chr11	4608485	4608485	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggggctgctgctgaccaTggcttttgaccgctatgtag	6	11	14	10	2	0	2	0	2	0	0	0	3	0	2	2	3	2	6	2	3	2	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:4608485T>C	ENST00000312614.4	+	1	465	c.443T>C	c.(442-444)aTg>aCg	p.M148T		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGCTGACCATGGCTTTTGAC	0.493													16	70					0	0	0	0	C	4608485	T	C	4608485	3	2	16	1	0	0	0	0	1	0	0	0	11192	1464	51	5	445	5	OR52I2	11	4608485	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	3530172	4608485	130398031	297	3635											
TRIM68	55128	broad.mit.edu	37	chr11	4621844	4621844	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctacattttgcttacataCtcccaggccccactcagacc	9	11	5	16	0	2	1	1	0	1	1	3	1	3	1	4	1	4	1	4	1	3	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:4621844C>G	ENST00000300747.5	-	7	1409	c.1120G>C	c.(1120-1122)Gta>Cta	p.V374L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	374	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCTTACATACTCCCAGGCCC	0.537													18	29					0	0	0	0	G	4621844	C	G	4621844	3	3	16	1	0	0	0	0	1	0	0	0	16636	565	20	4	341	4	TRIM68	11	4621844	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	13359	4621844	130384672	298	3636											
HBG2	3048	broad.mit.edu	37	chr11	5275578	5275578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagttcactcagctgggCaaaggtgcccttgagatcat	9	10	12	10	0	3	1	3	1	0	1	3	2	3	1	1	2	3	4	1	2	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:5275578C>T	ENST00000380259.2	-	7	1499	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	HBG2_ENST00000336906.4_Missense_Mutation_p.A87T|HBG2_ENST00000380252.1_Missense_Mutation_p.A77T					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAGCTGGGCAAAGGTGCCC	0.517													25	197					0	0	0	0	T	5275578	C	T	5275578	3	4	16	1	0	0	0	0	1	0	0	0	7033	710	25	4	192	4	HBG2	11	5275578	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	653734	5275578	129730938	299	3637											
OR51B6	390058	broad.mit.edu	37	chr11	5373081	5373081	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagtcaggtgtcttgcttgCcatggcttatgactgtttca	6	15	12	8	0	3	1	2	1	1	0	3	2	3	2	1	3	2	3	1	3	1	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:5373081C>G	ENST00000380219.1	+	1	344	c.344C>G	c.(343-345)gCc>gGc	p.A115G	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTTGCTTGCCATGGCTTAT	0.473													13	63					0	0	0	0	G	5373081	C	G	5373081	3	3	16	1	0	0	0	0	1	0	0	0	11163	739	26	4	346	4	OR51B6	11	5373081	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	97503	5373081	129633435	300	3638											
DNHD1	144132	broad.mit.edu	37	chr11	6588904	6588904	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgagtgcctggcaggtgcCctggcagacttcaccactag	7	8	12	14	0	1	2	1	1	0	1	1	2	1	2	4	3	2	2	4	3	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:6588904C>T	ENST00000254579.6	+	36	12729	c.12165C>T	c.(12163-12165)gcC>gcT	p.A4055A	DNHD1_ENST00000527990.2_Silent_p.A4055A	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4055					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGGCAGGTGCCCTGGCAGACT	0.617													16	38					0	0	0	0	T	6588904	C	T	6588904	2	4	16	1	0	0	0	0	0	0	0	1	4704	610	22	4		4	DNHD1	11	6588904	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1215823	6588904	128417612	301	3639											
DNHD1	144132	broad.mit.edu	37	chr11	6589744	6589744	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagcaggaatgtaagcaCtgttcacagagattttcgtc	13	11	10	7	1	1	2	1	1	0	1	3	4	1	3	0	1	2	4	0	1	3	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:6589744C>G	ENST00000254579.6	+	38	13163	c.12599C>G	c.(12598-12600)aCt>aGt	p.T4200S	DNHD1_ENST00000527990.2_Missense_Mutation_p.T4200S	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4200					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AATGTAAGCACTGTTCACAGA	0.463													24	48					0	0	0	0	G	6589744	C	G	6589744	3	3	16	1	0	0	0	0	1	0	0	0	4704	565	20	4	12750	4	DNHD1	11	6589744	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	840	6589744	128416772	302	3640											
OR6A2	8590	broad.mit.edu	37	chr11	6816345	6816345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatctgtaagctctgctgTggacatatcagtgcatgaga	12	11	11	7	0	3	1	1	1	2	1	3	4	3	2	0	1	3	4	0	1	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:6816345T>C	ENST00000332601.3	-	1	783	c.595A>G	c.(595-597)Aca>Gca	p.T199A		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCTCTGCTGTGGACATATCA	0.468													37	98					0	0	0	0	C	6816345	T	C	6816345	3	2	16	1	0	0	0	0	1	0	0	0	11257	1696	59	5	392	5	OR6A2	11	6816345	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	226601	6816345	128190171	303	3641											
FAR1	84188	broad.mit.edu	37	chr11	13743308	13743308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caataactcgtcttcacaaaGctatggtgtttcttgaatat	12	15	6	8	1	3	1	1	1	2	0	4	1	3	1	0	1	2	2	0	1	6	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:13743308G>T	ENST00000532502.1	+	1	1859	c.31G>T	c.(31-33)Gct>Tct	p.A11S	FAR1_ENST00000354817.3_Missense_Mutation_p.A387S			Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	387					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TCTTCACAAAGCTATGGTGTT	0.328													24	39					9.57634e-11	1.1674e-10	1	0	T	13743308	G	T	13743308	3	4	16	1	0	0	0	0	1	0	0	0	5719	971	34	4	1193	4	FAR1	11	13743308	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	6926963	13743308	121263208	304	3642											
INSC	387755	broad.mit.edu	37	chr11	15197552	15197552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgggtgcacagcatgagcGtgcgtctgacctgccatgcc	7	7	13	14	3	1	2	0	2	1	0	1	2	1	2	3	1	6	2	3	1	0	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:15197552G>C	ENST00000379554.3	+	3	509	c.463G>C	c.(463-465)Gtg>Ctg	p.V155L	INSC_ENST00000525218.1_Missense_Mutation_p.V108L|INSC_ENST00000424273.1_Missense_Mutation_p.V108L|INSC_ENST00000379556.3_Missense_Mutation_p.V108L|INSC_ENST00000530161.1_Missense_Mutation_p.V108L|INSC_ENST00000528567.1_Missense_Mutation_p.V108L	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	155					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CAGCATGAGCGTGCGTCTGAC	0.627													8	10					0	0	0	0	C	15197552	G	C	15197552	3	2	16	1	0	0	0	0	1	0	0	0	7817	1145	40	3	473	3	INSC	11	15197552	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1454244	15197552	119808964	305	3643											
INSC	387755	broad.mit.edu	37	chr11	15260566	15260566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaagctgcagtgaccCtggctcgtctcagccgagac	10	6	12	13	2	1	3	1	1	1	2	3	4	1	3	2	1	4	4	2	1	1	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:15260566C>A	ENST00000379554.3	+	11	1526	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	INSC_ENST00000525218.1_Missense_Mutation_p.L405M|INSC_ENST00000424273.1_Missense_Mutation_p.L405M|INSC_ENST00000379556.3_Missense_Mutation_p.L447M|INSC_ENST00000530161.1_Missense_Mutation_p.L447M|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Missense_Mutation_p.L447M	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	494					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGCAGTGACCCTGGCTCGTCT	0.602													16	26					1.15088e-07	1.30135e-07	1	0	A	15260566	C	A	15260566	3	1	16	1	0	0	0	0	1	0	0	0	7817	680	24	4	1522	4	INSC	11	15260566	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	63014	15260566	119745950	306	3644											
PLEKHA7	144100	broad.mit.edu	37	chr11	16834669	16834669	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcacttacctttagatcCaggtactccaggtctttctt	8	16	6	11	0	3	1	1	0	2	1	5	1	5	1	3	2	2	1	3	2	3	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:16834669C>A	ENST00000355661.3	-	13	2008	c.1998G>T	c.(1996-1998)ctG>ctT	p.L666L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.L666L|PLEKHA7_ENST00000531066.1_Silent_p.L666L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	666	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCTTTAGATCCAGGTACTCCA	0.468													15	34					7.93312e-07	8.84529e-07	1	0	A	16834669	C	A	16834669	2	1	16	1	0	0	0	0	0	0	0	1	12133	581	21	4		4	PLEKHA7	11	16834669	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1574103	16834669	118171847	307	3645											
SERGEF	26297	broad.mit.edu	37	chr11	18010157	18010157	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcacctgtctgagcaacCaggtgtgtccatccactcca	8	10	8	15	0	2	1	1	1	2	0	6	1	5	1	5	1	2	1	5	1	1	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:18010157C>G	ENST00000265965.5	-	8	982	c.831G>C	c.(829-831)ctG>ctC	p.L277L	SERGEF_ENST00000532265.1_Silent_p.L163L|SERGEF_ENST00000528200.1_Silent_p.L277L	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	277					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TCTGAGCAACCAGGTGTGTCC	0.507													26	43					0	0	0	0	G	18010157	C	G	18010157	2	3	16	1	0	0	0	0	0	0	0	1	14164	581	21	4		4	SERGEF	11	18010157	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1175488	18010157	116996359	308	3646											
LDHC	3948	broad.mit.edu	37	chr11	18472631	18472631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcccttttcaagaagaGtgcagaaacactttggaata	14	9	11	7	0	1	3	1	0	0	3	1	5	1	5	1	3	2	1	1	3	5	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:18472631G>T	ENST00000541669.1	+	8	1067	c.956G>T	c.(955-957)aGt>aTt	p.S319I	LDHC_ENST00000546146.1_3'UTR|LDHC_ENST00000280704.4_Missense_Mutation_p.S319I|LDHC_ENST00000544105.1_3'UTR|LDHC_ENST00000537486.1_3'UTR|LDHC_ENST00000536880.1_Missense_Mutation_p.S305I|LDHC_ENST00000535809.1_3'UTR			P07864	LDHC_HUMAN	lactate dehydrogenase C	319					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TTCAAGAAGAGTGCAGAAACA	0.388													29	55					1.2476e-16	1.68808e-16	1	0	T	18472631	G	T	18472631	3	4	16	1	0	0	0	0	1	0	0	0	8755	1029	36	4	982	4	LDHC	11	18472631	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	462474	18472631	116533885	309	3647											
ANO5	203859	broad.mit.edu	37	chr11	22271793	22271793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttcacaggaattattatGgagaaaaaattggtatctat	15	16	7	3	0	2	1	1	0	1	1	2	3	2	2	0	3	0	1	0	3	8	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:22271793G>A	ENST00000324559.8	+	10	1206	c.889G>A	c.(889-891)Gga>Aga	p.G297R		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	297						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAATTATTATGGAGAAAAAAT	0.308													10	20					0	0	0	0	A	22271793	G	A	22271793	3	1	16	1	0	0	0	0	1	0	0	0	699	1349	47	4	927	4	ANO5	11	22271793	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3799162	22271793	112734723	310	3648											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45924289	45924289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacccctccacggcagggcGgccgcacccctccatcagtg	6	5	10	20	3	1	0	1	0	0	0	3	0	3	0	7	3	1	2	7	3	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:45924289G>A	ENST00000395629.2	+	5	1271	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.R324Q			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	324					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		ACGGCAGGGCGGCCGCACCCC	0.711													7	10					0	0	0	0	A	45924289	G	A	45924289	3	1	16	1	0	0	0	0	1	0	0	0	9353	1116	39	1	989	1	MAPK8IP1	11	45924289	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	23652496	45924289	89082227	311	3649											
OR4B1	119765	broad.mit.edu	37	chr11	48239279	48239279	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcaaaaaggagaatccAgggagggagtgaaaaaagag	19	3	16	3	0	0	3	0	1	0	2	1	7	1	6	1	4	1	1	1	4	6	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:48239279A>T	ENST00000309562.2	+	1	936	c.918A>T	c.(916-918)ccA>ccT	p.P306P		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGGAGAATCCAGGGAGGGAGT	0.408													11	31					0	0	0	0	T	48239279	A	T	48239279	2	4	16	1	0	0	0	0	0	0	0	1	11115	175	7	5		5	OR4B1	11	48239279	Silent	SNP	A	TCGA-BA-6869-01A-11D-1870-08	2314990	48239279	86767237	312	3650											
OR5M3	219482	broad.mit.edu	37	chr11	56237369	56237369	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggaatatgtgaagttaatgCcggcaagtatgatcattgta	13	12	12	4	1	1	2	1	2	0	0	1	3	1	3	1	2	1	4	1	2	7	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:56237369C>A	ENST00000312240.2	-	1	645	c.605G>T	c.(604-606)gGc>gTc	p.G202V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GAAGTTAATGCCGGCAAGTAT	0.418													35	80					1.90571e-15	2.55692e-15	1	0	A	56237369	C	A	56237369	3	1	16	1	0	0	0	0	1	0	0	0	11246	739	26	4	320	4	OR5M3	11	56237369	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	7998090	56237369	78769147	313	3651											
OR5M8	219484	broad.mit.edu	37	chr11	56258161	56258161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgcctgccctctgtaGagcgaatctttaaaatagca	10	14	7	10	1	2	1	0	0	2	1	2	2	2	1	2	0	4	2	2	0	5	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:56258161G>T	ENST00000327216.2	-	1	710	c.686C>A	c.(685-687)tCt>tAt	p.S229Y		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCCCTCTGTAGAGCGAATCTT	0.413													17	34					4.14922e-12	5.23767e-12	1	0	T	56258161	G	T	56258161	3	4	16	1	0	0	0	0	1	0	0	0	11247	942	33	2	253	2	OR5M8	11	56258161	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	20792	56258161	78748355	314	3652											
OR5AR1	219493	broad.mit.edu	37	chr11	56431878	56431878	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccttaaggctttctcCacctgcgggtctcaccttac	5	11	9	16	2	2	0	1	0	2	0	4	0	2	0	5	3	2	1	5	3	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:56431878C>A	ENST00000302969.2	+	1	741	c.717C>A	c.(715-717)tcC>tcA	p.S239S		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						AGGCTTTCTCCACCTGCGGGT	0.483													24	90					2.21704e-12	2.80971e-12	1	0	A	56431878	C	A	56431878	2	1	16	1	0	0	0	0	0	0	0	1	11216	581	21	4		4	OR5AR1	11	56431878	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	173717	56431878	78574638	315	3653											
OR9I1	219954	broad.mit.edu	37	chr11	57886521	57886521	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggattcatggccacggtAtagagcagtgggttgcgaat	9	10	15	7	2	1	1	1	0	0	1	1	3	1	2	1	4	2	3	1	4	3	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:57886521A>G	ENST00000302610.1	-	1	395	c.396T>C	c.(394-396)taT>taC	p.Y132Y	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TGGCCACGGTATAGAGCAGTG	0.557													12	38					0	0	0	0	G	57886521	A	G	57886521	2	3	16	1	0	0	0	0	0	0	0	1	11324	456	16	5		5	OR9I1	11	57886521	Silent	SNP	A	TCGA-BA-6869-01A-11D-1870-08	1454643	57886521	77119995	316	3654											
MS4A4A	51338	broad.mit.edu	37	chr11	60073587	60073587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctagggtctggatggcatGgtgctcctcctaagtgtgct	5	13	13	10	0	1	0	0	0	1	0	4	1	4	1	3	4	2	3	3	4	2	2	rs148827848		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:60073587G>T	ENST00000355131.3	+	7	727	c.504G>T	c.(502-504)atG>atT	p.M168I	MS4A4A_ENST00000395016.3_Missense_Mutation_p.M168I|MS4A4A_ENST00000532114.1_Missense_Mutation_p.M134I|MS4A4A_ENST00000337908.4_Missense_Mutation_p.M187I	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	187						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TGGATGGCATGGTGCTCCTCC	0.463													32	78					1.22384e-17	1.67362e-17	1	0	T	60073587	G	T	60073587	3	4	16	1	0	0	0	0	1	0	0	0	9932	1348	47	4	583	4	MS4A4A	11	60073587	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2187066	60073587	74932929	317	3655											
GDPD4	220032	broad.mit.edu	37	chr11	76940195	76940195	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattatatatatacttacCagtgaaaacaaaatatggca	21	11	4	5	0	0	1	0	1	0	0	0	1	0	1	1	1	3	1	1	1	13	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:76940195C>A	ENST00000315938.4	-	14	1722	c.1472_splice	c.e14+1	p.W491_splice	GDPD4_ENST00000376217.2_Splice_Site_p.W491_splice	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	491					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						atataCTTACCAGTGAAAACA	0.303													8	21					5.18039e-06	5.67714e-06	1	0	A	76940195	C	A	76940195	5	1	16	1	0	0	0	0	0	0	1	0	6377	608	21	4	102	4	GDPD4	11	76940195	Splice_Site	SNP	C	TCGA-BA-6869-01A-11D-1870-08	16866608	76940195	58066321	318	3656											
FZD4	8322	broad.mit.edu	37	chr11	86662821	86662821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgctgccaaaaaccaaGtgagtgtcagaataacccac	14	7	8	12	0	1	2	1	1	0	1	2	2	2	2	4	0	4	1	4	0	5	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:86662821G>A	ENST00000531380.1	-	2	1282	c.977C>T	c.(976-978)aCt>aTt	p.T326I	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	326					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAAAACCAAGTGAGTGTCAG	0.453													13	23					0	0	0	0	A	86662821	G	A	86662821	3	1	16	1	0	0	0	0	1	0	0	0	6180	1029	36	4	640	4	FZD4	11	86662821	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	9722626	86662821	48343695	319	3657											
GRM5	2915	broad.mit.edu	37	chr11	88258477	88258477	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactcatagtttgcttacCtgctcattgttgctctccca	6	15	6	14	0	3	0	2	0	1	0	4	0	3	0	3	0	4	5	3	0	2	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:88258477C>A	ENST00000418177.2	-	9	3093	c.2726_splice	c.e9+1	p.S909_splice	GRM5_ENST00000305432.5_Intron|GRM5_ENST00000455756.2_Intron|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305447.4_Splice_Site_p.S909_splice			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	909					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GTTTGCTTACCTGCTCATTGT	0.507													73	191					2.37984e-18	3.27548e-18	1	0	A	88258477	C	A	88258477	5	1	16	1	0	0	0	0	0	0	1	0	6850	695	24	4	920	4	GRM5	11	88258477	Splice_Site	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1595656	88258477	46748039	320	3658											
FAT3	120114	broad.mit.edu	37	chr11	92087428	92087428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatttcttgacttttattCaattaatagacagggaccat	12	16	7	6	0	2	2	1	1	1	1	2	4	2	4	1	2	0	0	1	2	4	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:92087428C>T	ENST00000298047.6	+	1	2167	c.2150C>T	c.(2149-2151)tCa>tTa	p.S717L	FAT3_ENST00000525166.1_Missense_Mutation_p.S567L|FAT3_ENST00000541502.1_Missense_Mutation_p.S717L|FAT3_ENST00000409404.2_Missense_Mutation_p.S717L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	717					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACTTTTATTCAATTAATAGA	0.398										TCGA Ovarian(4;0.039)			49	145					0	0	0	0	T	92087428	C	T	92087428	3	4	16	1	0	0	0	0	1	0	0	0	5736	838	29	2	2152	2	FAT3	11	92087428	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	3828951	92087428	42919088	321	3659											
FAT3	120114	broad.mit.edu	37	chr11	92564960	92564960	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggacagtccctgtcctcTctcactactgtcaccatcac	7	11	5	18	0	4	0	3	0	1	0	7	1	6	1	4	1	1	0	4	1	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:92564960T>A	ENST00000298047.6	+	13	9671	c.9654T>A	c.(9652-9654)tcT>tcA	p.S3218S	FAT3_ENST00000525166.1_Silent_p.S3068S|FAT3_ENST00000409404.2_Silent_p.S3218S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3218	Cadherin 29.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTGTCCTCTCTCACTACTG	0.577										TCGA Ovarian(4;0.039)			11	11					0	0	0	0	A	92564960	T	A	92564960	2	1	16	1	0	0	0	0	0	0	0	1	5736	1538	54	5		5	FAT3	11	92564960	Silent	SNP	T	TCGA-BA-6869-01A-11D-1870-08	477532	92564960	42441556	322	3660											
CNTN5	53942	broad.mit.edu	37	chr11	99715885	99715885	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtttgatagatggcacCttcattataagcaatccaag	14	12	7	8	0	1	2	1	1	0	1	2	2	2	2	2	1	2	3	2	1	6	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:99715885C>A	ENST00000524871.1	+	6	758	c.468C>A	c.(466-468)acC>acA	p.T156T	CNTN5_ENST00000528682.1_Silent_p.T156T|CNTN5_ENST00000279463.3_Silent_p.T156T|CNTN5_ENST00000418526.2_Silent_p.T82T|CNTN5_ENST00000527185.1_Silent_p.T156T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	156	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TAGATGGCACCTTCATTATAA	0.373													35	69					8.53417e-09	9.93068e-09	1	0	A	99715885	C	A	99715885	2	1	16	1	0	0	0	0	0	0	0	1	3674	668	24	4		4	CNTN5	11	99715885	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	7150925	99715885	35290631	323	3661											
CNTN5	53942	broad.mit.edu	37	chr11	99941252	99941252	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggaaaacccagacccaCgtatcgttggctgaagaatg	13	8	10	10	2	0	3	0	1	0	2	1	4	0	4	2	2	2	3	2	2	6	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:99941252C>G	ENST00000524871.1	+	11	1549	c.1259C>G	c.(1258-1260)aCg>aGg	p.T420R	CNTN5_ENST00000528682.1_Missense_Mutation_p.T420R|CNTN5_ENST00000279463.3_Missense_Mutation_p.T420R|CNTN5_ENST00000418526.2_Missense_Mutation_p.T346R|CNTN5_ENST00000527185.1_Missense_Mutation_p.T420R	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	420	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCCAGACCCACGTATCGTTGG	0.478													16	30					0	0	0	0	G	99941252	C	G	99941252	3	3	16	1	0	0	0	0	1	0	0	0	3674	536	19	3	1293	3	CNTN5	11	99941252	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	225367	99941252	35065264	324	3662											
CNTN5	53942	broad.mit.edu	37	chr11	99944884	99944884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttttttaatagcttcagctCccacttttgcactgaatcaa	10	16	4	11	0	2	1	2	1	0	0	3	1	3	1	1	0	3	3	1	0	4	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:99944884C>A	ENST00000524871.1	+	13	1728	c.1438C>A	c.(1438-1440)Ccc>Acc	p.P480T	CNTN5_ENST00000528682.1_Missense_Mutation_p.P480T|CNTN5_ENST00000279463.3_Missense_Mutation_p.P480T|CNTN5_ENST00000418526.2_Missense_Mutation_p.P406T|CNTN5_ENST00000527185.1_Missense_Mutation_p.P480T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	480	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGCTTCAGCTCCCACTTTTGC	0.368													10	30					5.50884e-06	5.98583e-06	1	0	A	99944884	C	A	99944884	3	1	16	1	0	0	0	0	1	0	0	0	3674	855	30	2	1480	2	CNTN5	11	99944884	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	3632	99944884	35061632	325	3663											
MMP10	4319	broad.mit.edu	37	chr11	102649421	102649421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccataaagcccaggtccagGtgggtaggcatgagccaaac	12	6	12	11	0	0	1	0	1	0	0	2	1	2	1	4	4	3	2	4	4	4	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:102649421G>A	ENST00000279441.4	-	4	592	c.556C>T	c.(556-558)Cct>Tct	p.P186S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	186					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CCAGGTCCAGGTGGGTAGGCA	0.423													23	42					0	0	0	0	A	102649421	G	A	102649421	3	1	16	1	0	0	0	0	1	0	0	0	9718	1261	44	4	902	4	MMP10	11	102649421	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2704537	102649421	32357095	326	3664											
CARD16	114769	broad.mit.edu	37	chr11	104912149	104912149	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgataatttatgagttccaGtttgcaactctttacctaaa	13	16	5	7	0	1	2	0	2	1	0	2	2	2	2	2	0	3	3	2	0	6	8			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:104912149G>C	ENST00000375706.2	-	3	589	c.572C>G	c.(571-573)aCt>aGt	p.T191S	CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16											endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						ATGAGTTCCAGTTTGCAACTC	0.393													21	35					0	0	0	0	C	104912149	G	C	104912149	3	2	16	1	0	0	0	0	1	0	0	0	2672	1029	36	4	25	4	CARD16	11	104912149	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2262728	104912149	30094367	327	3665											
GUCY1A2	2977	broad.mit.edu	37	chr11	106888648	106888648	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccgggctgggctccagcGgcccgggcgggctccggctg	1	4	20	16	6	0	0	0	0	0	0	2	0	2	0	4	7	1	4	4	7	0	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:106888648G>C	ENST00000526355.1	-	1	602	c.134C>G	c.(133-135)cCg>cGg	p.P45R	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P45R|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P45R	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	45					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GGGCTCCAGCGGCCCGGGCGG	0.781													2	5					0	0	0	0	C	106888648	G	C	106888648	3	2	16	1	0	0	0	0	1	0	0	0	6943	1116	39	3	2096	3	GUCY1A2	11	106888648	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1976499	106888648	28117868	328	3666											
DRD2	1813	broad.mit.edu	37	chr11	113295162	113295162	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcgaggctgacgatcaggTagttggtggtggtctgcagc	6	10	17	8	2	2	1	1	1	1	0	2	3	2	1	0	5	3	4	0	5	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:113295162T>A	ENST00000362072.3	-	2	556	c.212A>T	c.(211-213)tAc>tTc	p.Y71F	DRD2_ENST00000544518.1_Missense_Mutation_p.Y71F|DRD2_ENST00000542968.1_Missense_Mutation_p.Y71F|DRD2_ENST00000538967.1_Missense_Mutation_p.Y71F|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Missense_Mutation_p.Y71F|DRD2_ENST00000346454.3_Missense_Mutation_p.Y71F	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	71					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GACGATCAGGTAGTTGGTGGT	0.637													16	38					0	0	0	0	A	113295162	T	A	113295162	3	1	16	1	0	0	0	0	1	0	0	0	4793	1638	57	5	1147	5	DRD2	11	113295162	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	6406514	113295162	21711354	329	3667											
RNF214	257160	broad.mit.edu	37	chr11	117153235	117153235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactggcagaacatgagcggGtggcagcaagtactcaggtg	11	6	16	8	1	1	2	1	1	0	1	1	3	1	2	0	4	4	4	0	4	3	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:117153235G>A	ENST00000530849.1	+	11	1373	c.1363G>A	c.(1363-1365)Gtg>Atg	p.V455M	RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000300650.4_Missense_Mutation_p.V610M|RNF214_ENST00000531452.1_Missense_Mutation_p.V610M|RNF214_ENST00000531287.1_Missense_Mutation_p.V455M			Q8ND24	RN214_HUMAN	ring finger protein 214	610	Pro-rich.						zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		ACATGAGCGGGTGGCAGCAAG	0.522													14	18					0	0	0	0	A	117153235	G	A	117153235	3	1	16	1	0	0	0	0	1	0	0	0	13563	1261	44	4	1870	4	RNF214	11	117153235	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3858073	117153235	17853281	330	3668											
CEP164	22897	broad.mit.edu	37	chr11	117253621	117253621	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaggatcctgaggagaagGtggcggtcagccccaccccg	9	4	15	13	2	1	3	1	1	0	2	2	5	2	4	5	5	1	0	5	5	1	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:117253621G>C	ENST00000278935.3	+	14	1834	c.1687G>C	c.(1687-1689)Gtg>Ctg	p.V563L	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	563	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGAGGAGAAGGTGGCGGTCAG	0.637													17	20					0	0	0	0	C	117253621	G	C	117253621	3	2	16	1	0	0	0	0	1	0	0	0	3278	1261	44	4	1733	4	CEP164	11	117253621	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	100386	117253621	17752895	331	3669											
SORL1	6653	broad.mit.edu	37	chr11	121475024	121475024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggacgagagcgatgaaaagGcctgcagtggtgagtgccgg	10	5	18	8	4	0	3	0	2	0	1	0	6	0	4	2	4	3	1	2	4	2	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:121475024G>A	ENST00000260197.7	+	33	4771	c.4642G>A	c.(4642-4644)Gcc>Acc	p.A1548T	SORL1_ENST00000525532.1_Missense_Mutation_p.A492T|SORL1_ENST00000532694.1_Missense_Mutation_p.A394T|SORL1_ENST00000534286.1_Missense_Mutation_p.A458T|SORL1_ENST00000527934.1_Missense_Mutation_p.A163T	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1548	LDL-receptor class A 11.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CGATGAAAAGGCCTGCAGTGG	0.662													20	37					0	0	0	0	A	121475024	G	A	121475024	3	1	16	1	0	0	0	0	1	0	0	0	15022	1203	42	4	4772	4	SORL1	11	121475024	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	4221403	121475024	13531492	332	3670											
OR10G4	390264	broad.mit.edu	37	chr11	123886995	123886995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcgcagagcctttcaGacctgtgcctcccactgtat	7	9	12	13	1	1	2	1	0	0	2	2	3	2	3	4	2	2	2	4	2	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:123886995G>T	ENST00000320891.4	+	1	714	c.714G>T	c.(712-714)caG>caT	p.Q238H		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAGCCTTTCAGACCTGTGCCT	0.542													22	57					1.50039e-11	1.86456e-11	1	0	T	123886995	G	T	123886995	3	4	16	1	0	0	0	0	1	0	0	0	10972	933	33	2	716	2	OR10G4	11	123886995	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2411971	123886995	11119521	333	3671											
OR8D2	283160	broad.mit.edu	37	chr11	124189698	124189698	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgggacatgacaatattGtaaagcagtgggcgacagat	13	9	13	6	1	0	2	0	1	0	1	0	4	0	3	0	2	1	2	0	2	4	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:124189698G>T	ENST00000357438.2	-	1	486	c.396C>A	c.(394-396)taC>taA	p.Y132*		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TGACAATATTGTAAAGCAGTG	0.443													11	32					2.80697e-09	3.3084e-09	1	0	T	124189698	G	T	124189698	4	4	16	1	0	0	0	0	0	1	0	0	11303	1372	48	4	542	4	OR8D2	11	124189698	Nonsense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	302703	124189698	10816818	334	3672											
FAM118B	79607	broad.mit.edu	37	chr11	126110725	126110725	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaactaagaagcctcgagAacttgtgctagtgattggaa	16	9	10	6	1	0	3	0	1	0	2	1	5	0	4	1	1	4	1	1	1	7	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:126110725A>C	ENST00000533050.1	+	4	618	c.125A>C	c.(124-126)gAa>gCa	p.E42A	FAM118B_ENST00000525728.1_3'UTR|FAM118B_ENST00000360194.4_Missense_Mutation_p.E42A	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	42										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		AAGCCTCGAGAACTTGTGCTA	0.443													64	148					0	0	0	0	C	126110725	A	C	126110725	3	2	16	1	0	0	0	0	1	0	0	0	5453	246	9	5	131	5	FAM118B	11	126110725	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	1921027	126110725	8895791	335	3673											
KCNJ1	3758	broad.mit.edu	37	chr11	128709440	128709440	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcattcccagcgtcaacTacaaagttgatattgatctg	11	15	6	9	1	3	2	2	2	1	0	4	2	4	2	1	0	3	1	1	0	4	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:128709440T>A	ENST00000392665.2	-	2	843	c.699A>T	c.(697-699)gtA>gtT	p.V233V	KCNJ1_ENST00000324036.3_Silent_p.V233V|KCNJ1_ENST00000440599.2_Silent_p.V233V|KCNJ1_ENST00000392664.2_Silent_p.V252V|KCNJ1_ENST00000392666.1_Silent_p.V233V	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	252					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CAGCGTCAACTACAAAGTTGA	0.428													40	92					0	0	0	0	A	128709440	T	A	128709440	2	1	16	1	0	0	0	0	0	0	0	1	8096	1509	53	5		5	KCNJ1	11	128709440	Silent	SNP	T	TCGA-BA-6869-01A-11D-1870-08	2598715	128709440	6297076	336	3674											
OPCML	4978	broad.mit.edu	37	chr11	132307171	132307171	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgacatcgttcaacgcGctgcattcgtactccccgga	8	8	10	15	6	1	0	1	0	0	0	4	2	2	1	2	1	4	5	2	1	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:132307171G>C	ENST00000331898.7	-	4	1187	c.609C>G	c.(607-609)agC>agG	p.S203R	OPCML_ENST00000524381.1_Missense_Mutation_p.S196R|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.S203R|OPCML_ENST00000374778.4_Missense_Mutation_p.S162R	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	203	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CGTTCAACGCGCTGCATTCGT	0.542													26	42					0	0	0	0	C	132307171	G	C	132307171	3	2	16	1	0	0	0	0	1	0	0	0	10945	1078	38	3	444	3	OPCML	11	132307171	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3597731	132307171	2699345	337	3675											
WNK1	65125	broad.mit.edu	37	chr12	977384	977384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctcaagtttacagtgactAtagacctggactagtacttc	12	13	7	9	0	1	2	1	1	1	1	3	3	1	3	1	1	2	2	1	1	6	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:977384A>G	ENST00000537687.1	+	9	3135	c.2492A>G	c.(2491-2493)tAt>tGt	p.Y831C	WNK1_ENST00000530271.2_Missense_Mutation_p.Y916C|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.Y130C	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TACAGTGACTATAGACCTGGA	0.463													7	11					0	0	0	0	G	977384	A	G	977384	3	3	16	1	0	0	0	0	1	0	0	0	17473	449	16	5	2785	5	WNK1	12	977384	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08		977384	132874511	338	3676											
LEPREL2	10536	broad.mit.edu	37	chr12	6943184	6943184	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggctgctcaccccagccGagtgtggggtgctgctgcag	5	8	16	12	1	1	0	1	0	0	0	1	1	1	0	3	3	5	5	3	3	0	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:6943184G>T	ENST00000251761.8	+	0	1462				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						CACCCCAGCCGAGTGTGGGGT	0.587													28	55					1.17739e-12	1.50706e-12	1	0	T	6943184	G	T	6943184	1	4	16	0	1	0	0	0	0	0	0	0	8784	1059	37	3		3	LEPREL2	12	6943184	RNA	SNP	G	TCGA-BA-6869-01A-11D-1870-08	5965800	6943184	126908711	339	3677											
CD163	9332	broad.mit.edu	37	chr12	7640427	7640427	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttccttctgggcggggtgcTactgggcagagtgaaagatg	7	10	17	7	1	1	3	0	1	1	2	2	3	2	3	1	4	2	3	1	4	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:7640427T>G	ENST00000359156.4	-	7	1879	c.1677A>C	c.(1675-1677)gtA>gtC	p.V559V	CD163_ENST00000541972.1_Silent_p.V547V|CD163_ENST00000396620.3_Silent_p.V559V|CD163_ENST00000432237.2_Silent_p.V559V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	559	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGCGGGGTGCTACTGGGCAGA	0.502													32	58					0	0	0	0	G	7640427	T	G	7640427	2	3	16	1	0	0	0	0	0	0	0	1	2996	1509	53	5		5	CD163	12	7640427	Silent	SNP	T	TCGA-BA-6869-01A-11D-1870-08	697243	7640427	126211468	340	3678											
KLRB1	3820	broad.mit.edu	37	chr12	9751243	9751243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcagtttaagagacccGgtctctctaaagtaaaaaac	14	10	9	8	1	2	1	0	0	2	1	3	2	2	1	1	2	1	3	1	2	6	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:9751243G>T	ENST00000229402.3	-	4	312	c.266C>A	c.(265-267)cCg>cAg	p.P89Q		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	89					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						TAAGAGACCCGGTCTCTCTAA	0.373													32	72					4.31634e-10	5.17314e-10	1	0	T	9751243	G	T	9751243	3	4	16	1	0	0	0	0	1	0	0	0	8466	1116	39	3	422	3	KLRB1	12	9751243	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2110816	9751243	124100652	341	3679											
TAS2R8	50836	broad.mit.edu	37	chr12	10959383	10959383	+	Frame_Shift_Del	DEL	C	C	-																															ggttcagtactattacaatgCcatttacaaccattacactg																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:10959383delC	ENST00000240615.2	-	1	509	c.197delG	c.(196-198)gcfs	p.G66fs		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	66					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATTACAATGCCATTTACAAC	0.318													31	72	---	---	---	---					-	10959383	C	-	10959383	7	5	16	1	0	1	0	1	0	0	0	0	15678	739	26	0	735	0	TAS2R8	12	10959383	Frame_Shift_Del	DEL	C	TCGA-BA-6869-01A-11D-1870-08	1208140	10959383	122892512	342	3680											
GUCY2C	2984	broad.mit.edu	37	chr12	14766128	14766128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttatagctggctacccGtctgggtttttggcttctta	4	20	9	8	1	2	0	0	0	2	0	2	0	2	0	1	3	2	4	1	3	4	9	rs140551603		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:14766128G>A	ENST00000261170.3	-	27	3281	c.3145C>T	c.(3145-3147)Cgg>Tgg	p.R1049W	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1049					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTGGCTACCCGTCTGGGTTTT	0.433													74	158					0	0	0	0	A	14766128	G	A	14766128	3	1	16	1	0	0	0	0	1	0	0	0	6946	1144	40	1	80	1	GUCY2C	12	14766128	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3806745	14766128	119085767	343	3681											
ART4	420	broad.mit.edu	37	chr12	14993877	14993877	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaaatagccacagcgtGtgtggtagtcatgttctggg	12	10	12	7	1	2	0	1	0	1	0	2	0	2	0	1	2	3	2	1	2	5	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:14993877G>T	ENST00000228936.4	-	2	736	c.355C>A	c.(355-357)Cac>Aac	p.H119N	C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	119					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						GCCACAGCGTGTGTGGTAGTC	0.438													44	87					4.18559e-23	6.01972e-23	1	0	T	14993877	G	T	14993877	3	4	16	1	0	0	0	0	1	0	0	0	1003	1377	48	4	597	4	ART4	12	14993877	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	227749	14993877	118858018	344	3682											
PTPRO	5800	broad.mit.edu	37	chr12	15654948	15654948	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgacctggttaccaccCaaaccacccactgcttttga	11	11	5	14	0	0	2	0	2	0	0	0	2	0	2	5	1	3	2	5	1	3	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:15654948C>G	ENST00000281171.4	+	5	1386	c.1056C>G	c.(1054-1056)ccC>ccG	p.P352P	PTPRO_ENST00000348962.2_Silent_p.P352P|PTPRO_ENST00000543886.1_Silent_p.P352P	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	352	Fibronectin type-III 4.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGTTACCACCCAAACCACCCA	0.418													21	63					0	0	0	0	G	15654948	C	G	15654948	2	3	16	1	0	0	0	0	0	0	0	1	12891	581	21	4		4	PTPRO	12	15654948	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	661071	15654948	118196947	345	3683											
SLCO1C1	53919	broad.mit.edu	37	chr12	20876190	20876190	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggccaactttgtgatcggTatgctcatctgcctttcatg	7	14	10	10	1	3	1	2	1	1	0	4	1	3	1	2	2	3	2	2	2	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:20876190T>G	ENST00000381552.1	+	9	1554		c.e9+2		SLCO1C1_ENST00000545102.1_Splice_Site|SLCO1C1_ENST00000540354.1_Splice_Site|SLCO1C1_ENST00000545604.1_Splice_Site|SLCO1C1_ENST00000266509.2_Splice_Site			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1						sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTGTGATCGGTATGCTCATCT	0.443													17	40					0	0	0	0	G	20876190	T	G	20876190	5	3	16	1	0	0	0	0	0	0	1	0	14813	1652	57	5	1218	5	SLCO1C1	12	20876190	Splice_Site	SNP	T	TCGA-BA-6869-01A-11D-1870-08	5221242	20876190	112975705	346	3684											
RECQL	5965	broad.mit.edu	37	chr12	21629893	21629893	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagctttacaatatcctcaaTaaaatcttcagtgtttgagg	13	14	7	7	0	3	1	2	1	1	0	4	2	4	1	1	1	2	2	1	1	6	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:21629893T>C	ENST00000444129.2	-	8	1369	c.901A>G	c.(901-903)Att>Gtt	p.I301V	RECQL_ENST00000421138.2_Missense_Mutation_p.I301V	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	301	Helicase C-terminal.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						ATATCCTCAATAAAATCTTCA	0.338								Other identified genes with known or suspected DNA repair function					13	39					0	0	0	0	C	21629893	T	C	21629893	3	2	16	1	0	0	0	0	1	0	0	0	13283	1406	49	5	1080	5	RECQL	12	21629893	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	753703	21629893	112222002	347	3685											
PPFIBP1	8496	broad.mit.edu	37	chr12	27844781	27844781	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaattgggacaggcatcaGgaagtgcatctaagaaagga	15	7	14	5	0	2	1	1	0	1	1	2	5	2	5	0	5	1	2	0	5	4	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:27844781G>C	ENST00000318304.8	+	27	3086	c.2803G>C	c.(2803-2805)Gga>Cga	p.G935R	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G904R|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G782R|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G929R	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	935					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ACAGGCATCAGGAAGTGCATC	0.403													38	81					0	0	0	0	C	27844781	G	C	27844781	3	2	16	1	0	0	0	0	1	0	0	0	12384	1001	35	4	2929	4	PPFIBP1	12	27844781	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	6214888	27844781	106007114	348	3686											
PKP2	5318	broad.mit.edu	37	chr12	32975546	32975547	+	Frame_Shift_Del	DEL	CA	CA	-																															aggagaggttatgaagaatgCacacacaattctccgtggcc																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:32975546_32975547delCA	ENST00000340811.4	-	8	1801_1802	c.1693_1694delTG	c.(1693-1695)cfs	p.C565fs	PKP2_ENST00000070846.6_Frame_Shift_Del_p.C609fs	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	609					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATGAAGAATGCACACACAATTC	0.426													22	58	---	---	---	---					-	32975547	CA	-	32975546	7	5	16	1	0	1	0	1	0	0	0	0	12057	710	25	0	843	0	PKP2	12	32975546	Frame_Shift_Del	DEL	CA	TCGA-BA-6869-01A-11D-1870-08	5130765	32975546	100876349	349	3687											
KIF21A	55605	broad.mit.edu	37	chr12	39720119	39720119	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcatcagtactatcctcTacattttctacaaaaaaatg	14	14	2	11	0	4	0	2	0	2	0	6	0	6	0	2	0	3	1	2	0	7	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:39720119T>C	ENST00000395670.3	-	24	3767	c.3348A>G	c.(3346-3348)gtA>gtG	p.V1116V	KIF21A_ENST00000544797.2_Silent_p.V1096V|KIF21A_ENST00000361961.3_Silent_p.V1103V|KIF21A_ENST00000361418.5_Silent_p.V1116V|KIF21A_ENST00000541463.2_Silent_p.V1080V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1116					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TACTATCCTCTACATTTTCTA	0.358													11	35					0	0	0	0	C	39720119	T	C	39720119	2	2	16	1	0	0	0	0	0	0	0	1	8339	1509	53	5		5	KIF21A	12	39720119	Silent	SNP	T	TCGA-BA-6869-01A-11D-1870-08	6744573	39720119	94131776	350	3688											
LRRK2	120892	broad.mit.edu	37	chr12	40707845	40707845	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaaaaatcattttatcGgagcgtaaaaatgtgccaat	16	12	7	6	2	1	1	1	1	0	0	2	2	1	2	1	1	2	1	1	1	8	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:40707845G>C	ENST00000298910.7	+	32	4666	c.4608G>C	c.(4606-4608)tcG>tcC	p.S1536S	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1536					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCATTTTATCGGAGCGTAAAA	0.373													13	37					0	0	0	0	C	40707845	G	C	40707845	2	2	16	1	0	0	0	0	0	0	0	1	9097	1103	39	3		3	LRRK2	12	40707845	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	987726	40707845	93144050	351	3689											
NELL2	4753	broad.mit.edu	37	chr12	45173741	45173741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacttctgtgtgagggcggtGactgcctgagcggtaatgca	7	10	15	9	2	1	3	0	3	1	0	1	3	1	3	1	3	3	2	1	3	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:45173741G>A	ENST00000429094.2	-	4	904	c.400C>T	c.(400-402)Cac>Tac	p.H134Y	NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000437801.2_Missense_Mutation_p.H184Y|NELL2_ENST00000551601.1_Missense_Mutation_p.H133Y|NELL2_ENST00000549027.1_Missense_Mutation_p.H133Y|NELL2_ENST00000333837.4_Missense_Mutation_p.H157Y|NELL2_ENST00000395487.2_Missense_Mutation_p.H133Y|NELL2_ENST00000452445.2_Missense_Mutation_p.H134Y	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	134	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGAGGGCGGTGACTGCCTGAG	0.473													32	79					0	0	0	0	A	45173741	G	A	45173741	3	1	16	1	0	0	0	0	1	0	0	0	10404	1290	45	2	2118	2	NELL2	12	45173741	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	4465896	45173741	88678154	352	3690											
KRT6C	286887	broad.mit.edu	37	chr12	52862855	52862855	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagcactttagtgcttGtagctcttcctgctggagga	7	12	13	9	0	1	0	0	0	1	0	2	3	2	2	1	3	4	6	1	3	2	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:52862855G>A	ENST00000252250.6	-	9	1733	c.1686C>T	c.(1684-1686)taC>taT	p.Y562Y		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	562	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TTTAGTGCTTGTAGCTCTTCC	0.612													4	50					0	0	0	0	A	52862855	G	A	52862855	2	1	16	1	0	0	0	0	0	0	0	1	8534	1372	48	4		4	KRT6C	12	52862855	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	7689114	52862855	80989040	353	3691											
ANKRD52	283373	broad.mit.edu	37	chr12	56641850	56641850	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcgcttgcgctccttgatGagggcagaggcgccgtgggc	4	9	17	11	4	0	3	0	2	0	1	1	3	1	3	2	3	2	3	2	3	0	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:56641850G>A	ENST00000267116.7	-	18	2056	c.1935C>T	c.(1933-1935)ctC>ctT	p.L645L		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	645							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCTCCTTGATGAGGGCAGAGG	0.632													11	19					0	0	0	0	A	56641850	G	A	56641850	2	1	16	1	0	0	0	0	0	0	0	1	677	1277	45	2		2	ANKRD52	12	56641850	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3778995	56641850	77210045	354	3692											
GNS	2799	broad.mit.edu	37	chr12	65130829	65130829	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcctcgaaccaacagTggaactttgatatcaaactc	13	9	7	12	1	1	1	1	1	0	0	4	3	2	2	3	2	4	0	3	2	5	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:65130829T>C	ENST00000258145.3	-	9	1223	c.1053A>G	c.(1051-1053)ccA>ccG	p.P351P	GNS_ENST00000542058.1_Silent_p.P331P|GNS_ENST00000418919.2_Silent_p.P295P|GNS_ENST00000543646.1_Silent_p.P383P	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	351						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		GAACCAACAGTGGAACTTTGA	0.453													16	51					0	0	0	0	C	65130829	T	C	65130829	2	2	16	1	0	0	0	0	0	0	0	1	6601	1683	59	5		5	GNS	12	65130829	Silent	SNP	T	TCGA-BA-6869-01A-11D-1870-08	8488979	65130829	68721066	355	3693											
PPFIA2	8499	broad.mit.edu	37	chr12	81768458	81768458	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagttcagcctctacttcAggcaaggtttcagcctttct	7	13	8	13	0	5	0	3	0	2	0	5	0	5	0	3	2	3	3	3	2	2	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:81768458A>T	ENST00000550584.2	-	10	1516	c.1221T>A	c.(1219-1221)ccT>ccA	p.P407P	PPFIA2_ENST00000333447.7_Silent_p.P389P|PPFIA2_ENST00000552948.1_Silent_p.P407P|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Silent_p.P333P|PPFIA2_ENST00000549325.1_Silent_p.P389P|PPFIA2_ENST00000443686.3_Silent_p.P308P|PPFIA2_ENST00000548586.1_Silent_p.P407P|PPFIA2_ENST00000550359.2_Silent_p.P254P|PPFIA2_ENST00000549396.1_Silent_p.P407P	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	333										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCTCTACTTCAGGCAAGGTTT	0.433													39	61					0	0	0	0	T	81768458	A	T	81768458	2	4	16	1	0	0	0	0	0	0	0	1	12381	175	7	5		5	PPFIA2	12	81768458	Silent	SNP	A	TCGA-BA-6869-01A-11D-1870-08	16637629	81768458	52083437	356	3694											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100492321	100492321	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcaaagccgtattcacTggaaaaacaaagcaaaacaa	20	6	6	9	1	2	0	2	0	0	0	2	1	2	1	1	1	5	3	1	1	8	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:100492321T>C	ENST00000279907.7	-	5	551		c.e5-2		UHRF1BP1L_ENST00000356828.3_Splice_Site	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CCGTATTCACTGGAAAAACAA	0.328													16	23					0	0	0	0	C	100492321	T	C	100492321	5	2	16	1	0	0	0	0	0	0	1	0	17065	1594	55	5	4149	5	UHRF1BP1L	12	100492321	Splice_Site	SNP	T	TCGA-BA-6869-01A-11D-1870-08	18723863	100492321	33359574	357	3695											
NT5DC3	51559	broad.mit.edu	37	chr12	104187036	104187036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacgatataactcatccCtttgtccctagggcaacaag	12	9	6	14	1	1	0	1	0	0	0	3	1	3	0	3	1	3	1	3	1	6	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:104187036C>T	ENST00000392876.3	-	9	965	c.925G>A	c.(925-927)Ggg>Agg	p.G309R		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	309							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TAACTCATCCCTTTGTCCCTA	0.418													63	167					0	0	0	0	T	104187036	C	T	104187036	3	4	16	1	0	0	0	0	1	0	0	0	10763	681	24	4	745	4	NT5DC3	12	104187036	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	3694715	104187036	29664859	358	3696											
SLC41A2	84102	broad.mit.edu	37	chr12	105321903	105321903	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatcaccatcactagataTatcttcatcttgtaacatgg	12	15	4	10	0	6	1	4	0	2	1	6	1	6	1	1	1	1	1	1	1	4	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:105321903T>G	ENST00000258538.3	-	1	530	c.403A>C	c.(403-405)Ata>Cta	p.I135L		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	135						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TCACTAGATATATCTTCATCT	0.393													34	75					0	0	0	0	G	105321903	T	G	105321903	3	3	16	1	0	0	0	0	1	0	0	0	14718	1406	49	5	1358	5	SLC41A2	12	105321903	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	1134867	105321903	28529992	359	3697											
NUAK1	9891	broad.mit.edu	37	chr12	106461453	106461453	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagtcattctctttcttGgatttcttcagcgaccgctg	7	15	8	11	2	5	0	2	0	3	0	6	2	5	1	1	1	1	2	1	1	1	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:106461453G>T	ENST00000261402.2	-	7	2492	c.1113C>A	c.(1111-1113)tcC>tcA	p.S371S		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	371							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCTCTTTCTTGGATTTCTTCA	0.547													32	68					1.45844e-13	1.88185e-13	1	0	T	106461453	G	T	106461453	2	4	16	1	0	0	0	0	0	0	0	1	10783	1335	47	4		4	NUAK1	12	106461453	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1139550	106461453	27390442	360	3698											
WSCD2	9671	broad.mit.edu	37	chr12	108603974	108603974	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccaggcgacgaacgtgagcGaggcagagtgcgacatggag	11	4	17	9	5	0	2	0	1	0	1	1	7	1	3	1	3	3	1	1	3	1	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:108603974G>C	ENST00000332082.4	+	5	1392	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	WSCD2_ENST00000547525.1_Missense_Mutation_p.E192Q|WSCD2_ENST00000261400.3_Missense_Mutation_p.E192Q|WSCD2_ENST00000549903.1_Missense_Mutation_p.E192Q			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	192	WSC 1.					integral to membrane		p.E192K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAACGTGAGCGAGGCAGAGTG	0.677													8	26					0	0	0	0	C	108603974	G	C	108603974	3	2	16	1	0	0	0	0	1	0	0	0	17503	1059	37	3	584	3	WSCD2	12	108603974	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2142521	108603974	25247921	361	3699											
RASAL1	8437	broad.mit.edu	37	chr12	113543582	113543582	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccagacgtagcgcttcttGaaggcaaagcgcgtggccag	10	6	14	11	4	1	2	0	1	1	1	1	2	1	2	2	2	3	3	2	2	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:113543582G>A	ENST00000546530.1	-	17	2055	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	RASAL1_ENST00000261729.5_Silent_p.F588F|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Silent_p.F588F|RASAL1_ENST00000548055.1_Silent_p.F589F	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	588	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCGCTTCTTGAAGGCAAAGC	0.637													31	54					0	0	0	0	A	113543582	G	A	113543582	2	1	16	1	0	0	0	0	0	0	0	1	13145	1281	45	2		2	RASAL1	12	113543582	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	4939608	113543582	20308313	362	3700											
IQCD	115811	broad.mit.edu	37	chr12	113645397	113645397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtagtttttcaaacaggaaaCcacggagctctatcaggctg	12	10	10	9	1	3	0	2	0	1	0	3	2	3	2	1	3	3	4	1	3	4	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:113645397C>T	ENST00000546692.1	-	2	948	c.575G>A	c.(574-576)gGt>gAt	p.G192D	IQCD_ENST00000416617.2_Missense_Mutation_p.G192D|IQCD_ENST00000299732.2_Missense_Mutation_p.G192D			Q96DY2	IQCD_HUMAN	IQ motif containing D	192										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AAACAGGAAACCACGGAGCTC	0.473													22	66					0	0	0	0	T	113645397	C	T	113645397	3	4	16	1	0	0	0	0	1	0	0	0	7858	507	18	4	476	4	IQCD	12	113645397	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	101815	113645397	20206498	363	3701											
SRRM4	84530	broad.mit.edu	37	chr12	119563220	119563220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaaagtctcaccgccacCgccatcaccgctgcccctcg	7	5	7	22	5	2	0	2	0	1	0	4	1	2	0	8	0	1	1	8	0	1	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:119563220C>A	ENST00000267260.4	+	7	938	c.550C>A	c.(550-552)Cgc>Agc	p.R184S	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	184	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCACCGCCACCGCCATCACCG	0.612													17	27					6.94344e-10	8.27524e-10	1	0	A	119563220	C	A	119563220	3	1	16	1	0	0	0	0	1	0	0	0	15261	652	23	3	576	3	SRRM4	12	119563220	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	5917823	119563220	14288675	364	3702											
COQ5	84274	broad.mit.edu	37	chr12	120947835	120947835	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catacctgatcaatgtgtgtGacattccggatcccaaaggc	11	10	9	11	1	1	2	1	2	0	0	3	3	3	3	3	2	1	0	3	2	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:120947835G>C	ENST00000288532.6	-	4	706	c.666C>G	c.(664-666)gtC>gtG	p.V222V	COQ5_ENST00000445328.2_Silent_p.V148V	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	222					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAATGTGTGTGACATTCCGGA	0.438													15	37					0	0	0	0	C	120947835	G	C	120947835	2	2	16	1	0	0	0	0	0	0	0	1	3778	1277	45	2		2	COQ5	12	120947835	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1384615	120947835	12904060	365	3703											
TUBA3C	7278	broad.mit.edu	37	chr13	19751082	19751082	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cataccttaaatccagttggGcaccaatctacaaactggat	14	10	6	11	0	1	0	0	0	1	0	2	1	2	1	3	2	3	2	3	2	6	4	rs148928584		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:19751082G>T	ENST00000400113.3	-	4	1145	c.1041C>A	c.(1039-1041)tgC>tgA	p.C347*		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	347					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCCAGTTGGGCACCAATCTA	0.527													13	19					1.15088e-07	1.30135e-07	1	0	T	19751082	G	T	19751082	4	4	16	1	0	0	0	0	0	1	0	0	16842	1195	42	4	319	4	TUBA3C	13	19751082	Nonsense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08		19751082	95418796	366	3704											
BRCA2	675	broad.mit.edu	37	chr13	32907114	32907114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtggcttcttcatttcaggGtatcaaaaagtctatattca	12	15	7	7	0	6	0	4	0	2	0	6	0	6	0	0	2	0	2	0	2	5	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:32907114G>T	ENST00000544455.1	+	10	1726	c.1499G>T	c.(1498-1500)gGt>gTt	p.G500V	BRCA2_ENST00000380152.3_Missense_Mutation_p.G500V	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	500					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCATTTCAGGGTATCAAAAAG	0.363			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			25	33					4.26978e-12	5.36868e-12	1	0	T	32907114	G	T	32907114	3	4	16	1	0	0	0	0	1	0	0	0	1507	1261	44	4	1533	4	BRCA2	13	32907114	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	13156032	32907114	82262764	367	3705											
FREM2	341640	broad.mit.edu	37	chr13	39343823	39343823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggccacatggcgagtgcGgatcctgagtgatggggagc	8	6	18	9	2	0	2	0	2	0	0	1	5	1	4	2	5	2	0	2	5	0	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:39343823G>T	ENST00000280481.7	+	4	5735	c.5519G>T	c.(5518-5520)cGg>cTg	p.R1840L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1840	Calx-beta 1.		R -> W (in dbSNP:rs9603422).		cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGCGAGTGCGGATCCTGAGT	0.537													19	21					2.39187e-15	3.18745e-15	1	0	T	39343823	G	T	39343823	3	4	16	1	0	0	0	0	1	0	0	0	6093	1116	39	3	5533	3	FREM2	13	39343823	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	6436709	39343823	75826055	368	3706											
FREM2	341640	broad.mit.edu	37	chr13	39425200	39425200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccctttggggctgcagttGgtgaacaaaatgaaactctc	10	11	10	10	0	1	2	0	2	1	0	3	2	2	2	1	3	3	3	1	3	4	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:39425200G>C	ENST00000280481.7	+	10	6913	c.6697G>C	c.(6697-6699)Ggt>Cgt	p.G2233R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2233					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGCTGCAGTTGGTGAACAAAA	0.438													16	24					0	0	0	0	C	39425200	G	C	39425200	3	2	16	1	0	0	0	0	1	0	0	0	6093	1348	47	4	6735	4	FREM2	13	39425200	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	81377	39425200	75744678	369	3707											
DIAPH3	81624	broad.mit.edu	37	chr13	60590252	60590252	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtctaataataatccaagCccttcatgtccaaagctttc	13	13	4	11	0	2	0	1	0	1	0	5	0	4	0	3	0	2	1	3	0	5	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:60590252C>T	ENST00000400324.4	-	6	874	c.654G>A	c.(652-654)ggG>ggA	p.G218G	DIAPH3_ENST00000400319.1_Silent_p.G148G|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000400320.1_Silent_p.G172G|DIAPH3_ENST00000400330.1_Silent_p.G218G|DIAPH3_ENST00000377908.2_Silent_p.G207G|DIAPH3_ENST00000267215.4_Silent_p.G218G|DIAPH3-AS1_ENST00000435636.1_RNA	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	218	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.G218G(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ATAATCCAAGCCCTTCATGTC	0.313													7	15					0	0	0	0	T	60590252	C	T	60590252	2	4	16	1	0	0	0	0	0	0	0	1	4557	726	26	4		4	DIAPH3	13	60590252	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	21165052	60590252	54579626	370	3708											
MYO16	23026	broad.mit.edu	37	chr13	109318423	109318423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgaaaaggctgaagcatgCgaagaatccgaaagttcact	15	7	10	9	2	1	3	1	2	0	1	2	5	2	3	2	1	2	3	2	1	6	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:109318423C>A	ENST00000356711.2	+	2	278	c.152C>A	c.(151-153)gCg>gAg	p.A51E	MYO16_ENST00000357550.2_Missense_Mutation_p.A51E|MYO16_ENST00000251041.5_Missense_Mutation_p.A51E	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	51					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTGAAGCATGCGAAGAATCCG	0.483													12	12					3.07112e-06	3.39467e-06	1	0	A	109318423	C	A	109318423	3	1	16	1	0	0	0	0	1	0	0	0	10134	768	27	3	154	3	MYO16	13	109318423	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	48728171	109318423	5851455	371	3709											
POTEG	404785	broad.mit.edu	37	chr14	19553819	19553819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggagccgaggtaccacGtccgtcgagaagatctggac	10	7	13	11	4	2	2	1	0	1	2	4	6	3	4	3	3	2	1	3	3	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:19553819G>A	ENST00000409832.3	+	1	455	c.403G>A	c.(403-405)Gtc>Atc	p.V135I		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	135								p.V135I(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAGGTACCACGTCCGTCGAGA	0.582													11	285					0	0	0	0	A	19553819	G	A	19553819	3	1	16	1	0	0	0	0	1	0	0	0	12338	1145	40	1	405	1	POTEG	14	19553819	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08		19553819	87795721	372	3710											
FOXG1	2290	broad.mit.edu	37	chr14	29236541	29236541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccccaagtcctcgttcaGcatcaacagcctggtgcccg	8	8	9	16	2	2	0	2	0	0	0	5	1	4	0	5	1	4	2	5	1	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:29236541G>T	ENST00000382535.3	+	2	425	c.56G>T	c.(55-57)aGc>aTc	p.S19I	FOXG1_ENST00000313071.4_Missense_Mutation_p.S19I			P55316	FOXG1_HUMAN	forkhead box G1	19					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCCTCGTTCAGCATCAACAGC	0.652													7	18					1.12685e-05	1.21822e-05	1	0	T	29236541	G	T	29236541	3	4	16	1	0	0	0	0	1	0	0	0	6054	971	34	4	58	4	FOXG1	14	29236541	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	9682722	29236541	78112999	373	3711											
PRKD1	5587	broad.mit.edu	37	chr14	30194823	30194823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggatgttttcagaggtagGgtcatggcgaaaaagcagga	14	8	15	4	1	2	1	2	0	0	1	2	4	2	3	0	5	1	3	0	5	4	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:30194823G>A	ENST00000331968.5	-	2	551	c.322C>T	c.(322-324)Cct>Tct	p.P108S	PRKD1_ENST00000415220.2_Missense_Mutation_p.P108S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	108					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCAGAGGTAGGGTCATGGCGA	0.413													16	45					0	0	0	0	A	30194823	G	A	30194823	3	1	16	1	0	0	0	0	1	0	0	0	12598	1232	43	4	2484	4	PRKD1	14	30194823	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	958282	30194823	77154717	374	3712											
CLEC14A	161198	broad.mit.edu	37	chr14	38724494	38724494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggtacctcccggggcagGgacacaacacatcgcccgag	10	3	14	14	3	0	0	0	0	0	0	2	3	1	2	3	5	2	2	3	5	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:38724494G>A	ENST00000342213.2	-	1	1080	c.734C>T	c.(733-735)cCc>cTc	p.P245L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	245	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCCGGGGCAGGGACACAACAC	0.617													46	120					0	0	0	0	A	38724494	G	A	38724494	3	1	16	1	0	0	0	0	1	0	0	0	3529	1232	43	4	742	4	CLEC14A	14	38724494	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	8529671	38724494	68625046	375	3713											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208417	65208417	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagctattatgaaaatgcaGaacaccatgatgcaggcttc	15	9	9	8	0	0	4	0	2	0	2	1	4	0	4	1	1	4	4	1	1	5	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:65208417G>C	ENST00000247226.7	+	14	2322	c.2014G>C	c.(2014-2016)Gaa>Caa	p.E672Q	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.E728Q|PLEKHG3_ENST00000492928.1_3'UTR|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.E261Q|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.E233Q	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	728					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGAAAATGCAGAACACCATGA	0.527													22	84					0	0	0	0	C	65208417	G	C	65208417	3	2	16	1	0	0	0	0	1	0	0	0	12142	943	33	2	2064	2	PLEKHG3	14	65208417	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	26483923	65208417	42141123	376	3714											
ZFYVE26	23503	broad.mit.edu	37	chr14	68274302	68274302	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaggagatgcaactcaacCccaagtggttctgcggggca	11	6	12	12	1	2	1	1	0	1	1	2	2	2	1	2	4	4	3	2	4	3	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:68274302C>A	ENST00000347230.4	-	5	837	c.699G>T	c.(697-699)ggG>ggT	p.G233G	ZFYVE26_ENST00000555452.1_Silent_p.G233G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	233					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCAACTCAACCCCAAGTGGTT	0.637													16	31					2.31682e-05	2.4754e-05	1	0	A	68274302	C	A	68274302	2	1	16	1	0	0	0	0	0	0	0	1	17763	610	22	4		4	ZFYVE26	14	68274302	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	3065885	68274302	39075238	377	3715											
TC2N	123036	broad.mit.edu	37	chr14	92266697	92266697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggggaaccgggaagtttGttcgtccttaaatcacaaac	12	9	10	10	2	1	0	1	0	0	0	3	2	2	2	3	3	2	2	3	3	5	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:92266697G>A	ENST00000435962.2	-	5	812	c.489C>T	c.(487-489)aaC>aaT	p.N163N	TC2N_ENST00000556018.1_Silent_p.N163N|TC2N_ENST00000340892.5_Silent_p.N163N|TC2N_ENST00000360594.5_Silent_p.N163N	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	163						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CGGGAAGTTTGTTCGTCCTTA	0.328													10	28					0	0	0	0	A	92266697	G	A	92266697	2	1	16	1	0	0	0	0	0	0	0	1	15759	1368	48	4		4	TC2N	14	92266697	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	23992395	92266697	15082843	378	3716											
CYP46A1	10858	broad.mit.edu	37	chr14	100172989	100172989	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtttctccagctcctTggttagcttaatggaaacat	8	15	9	9	0	1	0	0	0	1	0	3	1	2	1	2	2	4	5	2	2	3	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:100172989T>A	ENST00000261835.3	+	6	553	c.449T>A	c.(448-450)tTg>tAg	p.L150*	CYP46A1_ENST00000554176.1_5'UTR|CYP46A1_ENST00000423126.2_Nonsense_Mutation_p.L53*	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	150					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TCCAGCTCCTTGGTTAGCTTA	0.547													22	44					0	0	0	0	A	100172989	T	A	100172989	4	1	16	1	0	0	0	0	0	1	0	0	4214	1821	63	5	471	5	CYP46A1	14	100172989	Nonsense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	7906292	100172989	7176551	379	3717											
ADSSL1	122622	broad.mit.edu	37	chr14	105213312	105213312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggttggtgttggcaagtCaagagagtcgatgatccagc	10	10	15	6	1	1	2	1	1	0	1	3	4	2	2	1	3	1	3	1	3	2	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:105213312C>T	ENST00000332972.5	+	13	1634	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L	ADSSL1_ENST00000556623.1_Missense_Mutation_p.S55L|ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000555674.1_Missense_Mutation_p.S66L|ADSSL1_ENST00000330877.2_Missense_Mutation_p.S449L	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	449					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GTTGGCAAGTCAAGAGAGTCG	0.468													13	57					0	0	0	0	T	105213312	C	T	105213312	3	4	16	1	0	0	0	0	1	0	0	0	348	838	29	2	1721	2	ADSSL1	14	105213312	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	5040323	105213312	2136228	380	3718											
AHNAK2	113146	broad.mit.edu	37	chr14	105411241	105411241	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaggtcagtggccttgAggtccccctgcatggaggag	6	9	16	10	0	1	2	1	2	0	0	2	4	2	4	3	5	2	2	3	5	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:105411241A>C	ENST00000333244.5	-	7	10666	c.10547T>G	c.(10546-10548)cTc>cGc	p.L3516R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3516						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGTGGCCTTGAGGTCCCCCTG	0.667													49	125					0	0	0	0	C	105411241	A	C	105411241	3	2	16	1	0	0	0	0	1	0	0	0	415	304	11	5	6844	5	AHNAK2	14	105411241	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	197929	105411241	1938299	381	3719											
OR4M2	390538	broad.mit.edu	37	chr15	22369024	22369024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggctctctcctggaGggggggcttcattcattcta	4	13	13	11	0	4	0	2	0	2	0	6	1	5	1	2	6	0	2	2	6	1	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:22369024G>T	ENST00000332663.2	+	1	547	c.449G>T	c.(448-450)aGg>aTg	p.R150M	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCTCCTGGAGGGGGGGCTTC	0.502													49	313					1.74971e-23	2.52211e-23	1	0	T	22369024	G	T	22369024	3	4	16	1	0	0	0	0	1	0	0	0	11147	1000	35	4	451	4	OR4M2	15	22369024	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08		22369024	80162368	382	3720											
OR4N4	283694	broad.mit.edu	37	chr15	22383416	22383416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtggattttataataaGaaactgagaaggaggaattc	17	11	10	3	0	1	2	1	1	0	2	2	6	1	5	0	3	1	0	0	3	7	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:22383416G>T	ENST00000328795.4	+	1	1035	c.944G>T	c.(943-945)aGa>aTa	p.R315I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTATAATAAGAAACTGAGAA	0.388													11	21					6.40141e-05	6.7942e-05	1	0	T	22383416	G	T	22383416	3	4	16	1	0	0	0	0	1	0	0	0	11149	942	33	2	946	2	OR4N4	15	22383416	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	14392	22383416	80147976	383	3721											
MAGEL2	54551	broad.mit.edu	37	chr15	23890799	23890799	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgctaccgggggtccGggctgggcctgcaagactgc	4	6	17	14	3	0	1	0	0	0	1	1	1	1	1	4	4	4	4	4	4	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:23890799G>T	ENST00000532292.1	-	1	376	c.282C>A	c.(280-282)ccC>ccA	p.P94P		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCGGGGGTCCGGGCTGGGCCT	0.652													3	8					0.004672	0.00479949	1	0	T	23890799	G	T	23890799	2	4	16	1	0	0	0	0	0	0	0	1	9258	1103	39	3		3	MAGEL2	15	23890799	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1507383	23890799	78640593	384	3722											
GABRA5	2558	broad.mit.edu	37	chr15	27160007	27160007	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcccgatggatgcgcaCgcttgccctctgaaatttgg	7	11	11	12	3	1	1	0	1	1	0	2	4	2	2	2	2	2	2	2	2	1	3	rs140643363	by1000genomes	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:27160007C>G	ENST00000335625.5	+	7	1443	c.555C>G	c.(553-555)caC>caG	p.H185Q	GABRA5_ENST00000400081.3_Missense_Mutation_p.H185Q|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.H185Q	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	185					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGATGCGCACGCTTGCCCTC	0.433													17	18					0	0	0	0	G	27160007	C	G	27160007	3	3	16	1	0	0	0	0	1	0	0	0	6212	535	19	3	573	3	GABRA5	15	27160007	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	3269208	27160007	75371385	385	3723											
MAP1A	4130	broad.mit.edu	37	chr15	43821049	43821049	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacccacctctgcccccaTccatagatgatagggacctc	10	8	7	16	0	1	3	0	2	1	1	3	4	2	4	6	1	2	0	6	1	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:43821049T>A	ENST00000382031.1	+	5	8123	c.8092T>A	c.(8092-8094)Tcc>Acc	p.S2698T	MAP1A_ENST00000399453.1_Missense_Mutation_p.S2460T|MAP1A_ENST00000300231.5_Missense_Mutation_p.S2460T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2460						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCTGCCCCCATCCATAGATGA	0.662													25	16					0	0	0	0	A	43821049	T	A	43821049	3	1	16	1	0	0	0	0	1	0	0	0	9296	1435	50	5	7380	5	MAP1A	15	43821049	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	16661042	43821049	58710343	386	3724											
MYO5C	55930	broad.mit.edu	37	chr15	52532055	52532055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtatttctgtaggatcaCagccttatgttcctccagca	8	14	8	11	1	2	0	1	0	1	0	4	1	4	1	3	1	3	4	3	1	3	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:52532055C>A	ENST00000261839.7	-	21	2739	c.2578G>T	c.(2578-2580)Gtg>Ttg	p.V860L	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	860	IQ 5.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGTAGGATCACAGCCTTATGT	0.463													15	23					1.05317e-09	1.2482e-09	1	0	A	52532055	C	A	52532055	3	1	16	1	0	0	0	0	1	0	0	0	10150	478	17	4	2734	4	MYO5C	15	52532055	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	8711006	52532055	49999337	387	3725											
DENND4A	10260	broad.mit.edu	37	chr15	66007893	66007893	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acattcttcaatgaagcgaaTaaacatttgtgttttggtca	13	15	7	6	1	3	1	2	1	1	0	3	2	3	1	0	1	2	1	0	1	5	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:66007893T>A	ENST00000443035.3	-	14	2091	c.1876A>T	c.(1876-1878)Att>Ttt	p.I626F	DENND4A_ENST00000431932.2_Missense_Mutation_p.I626F	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	626	dDENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATGAAGCGAATAAACATTTGT	0.328													7	21					0	0	0	0	A	66007893	T	A	66007893	3	1	16	1	0	0	0	0	1	0	0	0	4470	1406	49	5	3924	5	DENND4A	15	66007893	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	13475838	66007893	36523499	388	3726											
IQCH	64799	broad.mit.edu	37	chr15	67757467	67757467	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctgttttaatcaggtGtgggcaaccggccttaacct	7	12	11	11	1	1	0	1	0	0	0	2	0	2	0	4	4	2	3	4	4	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:67757467G>T	ENST00000335894.4	+	17	2574	c.2508G>T	c.(2506-2508)gtG>gtT	p.V836V	IQCH_ENST00000360277.4_Silent_p.V497V|IQCH_ENST00000358767.3_Silent_p.V572V|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Silent_p.V493V	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	836										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTAATCAGGTGTGGGCAACCG	0.517													21	43					9.57634e-11	1.1674e-10	1	0	T	67757467	G	T	67757467	2	4	16	1	0	0	0	0	0	0	0	1	7864	1364	48	4		4	IQCH	15	67757467	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1749574	67757467	34773925	389	3727											
TBC1D21	161514	broad.mit.edu	37	chr15	74178505	74178505	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggaccccgtgtttgcTgagcacctaagtgagtggtt	6	13	12	10	1	0	2	0	2	0	0	1	3	1	3	4	2	2	4	4	2	1	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:74178505T>A	ENST00000300504.2	+	7	749	c.666T>A	c.(664-666)gcT>gcA	p.A222A	TBC1D21_ENST00000535547.2_Silent_p.A186A|TBC1D21_ENST00000562056.1_Silent_p.A185A	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	222	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCGTGTTTGCTGAGCACCTAA	0.592													15	35					0	0	0	0	A	74178505	T	A	74178505	2	1	16	1	0	0	0	0	0	0	0	1	15701	1567	55	5		5	TBC1D21	15	74178505	Silent	SNP	T	TCGA-BA-6869-01A-11D-1870-08	6421038	74178505	28352887	390	3728											
ACSBG1	23205	broad.mit.edu	37	chr15	78474423	78474423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtagctgactaccaccTcctgctggacttctgccggc	6	9	11	15	1	1	1	0	1	1	0	2	2	2	2	4	3	4	4	4	3	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:78474423T>C	ENST00000258873.4	-	8	1164	c.959A>G	c.(958-960)gAg>gGg	p.E320G	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E78G|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E78G	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	320					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GACTACCACCTCCTGCTGGAC	0.627													21	32					0	0	0	0	C	78474423	T	C	78474423	3	2	16	1	0	0	0	0	1	0	0	0	173	1551	54	5	1243	5	ACSBG1	15	78474423	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	4295918	78474423	24056969	391	3729											
IL16	3603	broad.mit.edu	37	chr15	81517813	81517813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatctccaggtccctgatgCtctgtaatgctaagaccagt	9	11	8	13	0	2	2	0	1	2	1	4	2	3	2	4	1	2	3	4	1	2	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:81517813C>T	ENST00000394660.2	+	2	433	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	IL16_ENST00000302987.4_Missense_Mutation_p.L25F	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	25					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCCCTGATGCTCTGTAATGC	0.498													19	50					0	0	0	0	T	81517813	C	T	81517813	3	4	16	1	0	0	0	0	1	0	0	0	7686	797	28	4	75	4	IL16	15	81517813	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	3043390	81517813	21013579	392	3730											
TMC3	342125	broad.mit.edu	37	chr15	81625263	81625263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggggagggaggctggcGggggacccgggatgcatatt	6	7	21	7	2	0	0	0	0	0	0	0	4	0	4	1	8	1	2	1	8	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:81625263G>T	ENST00000558726.1	-	22	2938	c.2803C>A	c.(2803-2805)Cgc>Agc	p.R935S	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.R934S|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	934						integral to membrane		p.R938S(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGAGGCTGGCGGGGGACCCGG	0.552													13	44					9.05144e-12	1.12922e-11	1	0	T	81625263	G	T	81625263	3	4	16	1	0	0	0	0	1	0	0	0	16080	1116	39	3	506	3	TMC3	15	81625263	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	107450	81625263	20906129	393	3731											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84657464	84657464	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataattttggatggaactggGaagatacagatacagaatcc	16	10	10	5	0	0	3	0	0	0	3	1	6	1	6	1	3	3	0	1	3	6	5	rs141705388		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:84657464G>T	ENST00000286744.5	+	22	3962	c.3738G>T	c.(3736-3738)ggG>ggT	p.G1246G	ADAMTSL3_ENST00000567476.1_Silent_p.G1246G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1246	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATGGAACTGGGAAGATACAGA	0.373													8	39					5.18039e-06	5.67714e-06	1	0	T	84657464	G	T	84657464	2	4	16	1	0	0	0	0	0	0	0	1	276	1161	41	2		2	ADAMTSL3	15	84657464	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3032201	84657464	17873928	394	3732											
ZNF592	9640	broad.mit.edu	37	chr15	85326315	85326315	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtcagagccattacccAccttcaaccagttcagtcca	12	8	5	16	0	3	1	3	0	0	1	4	1	4	1	6	0	3	1	6	0	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:85326315A>C	ENST00000299927.3	+	1	431	c.409A>C	c.(409-411)Acc>Ccc	p.T137P	ZNF592_ENST00000560079.2_Missense_Mutation_p.T137P			Q92610	ZN592_HUMAN	zinc finger protein 592	137					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCATTACCCACCTTCAACCA	0.478													49	91					0	0	0	0	C	85326315	A	C	85326315	3	2	16	1	0	0	0	0	1	0	0	0	18117	159	6	5	411	5	ZNF592	15	85326315	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	668851	85326315	17205077	395	3733											
AGBL1	123624	broad.mit.edu	37	chr15	86790944	86790944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccgaggctacgtcaccaGcctgctcgggctgcaccagg	8	5	13	15	3	1	0	1	0	0	0	2	2	1	0	4	3	5	4	4	3	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:86790944G>C	ENST00000441037.2	+	6	526	c.431G>C	c.(430-432)aGc>aCc	p.S144T	AGBL1_ENST00000421325.2_Missense_Mutation_p.S144T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	144					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TACGTCACCAGCCTGCTCGGG	0.612													12	11					0	0	0	0	C	86790944	G	C	86790944	3	2	16	1	0	0	0	0	1	0	0	0	375	971	34	4	449	4	AGBL1	15	86790944	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1464629	86790944	15740448	396	3734											
PEX11A	8800	broad.mit.edu	37	chr15	90227164	90227164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtatagcatgtaccacaTtgcctagtctgaaccctgca	10	11	7	13	0	1	1	0	1	1	0	1	1	1	1	4	0	5	4	4	0	5	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:90227164T>C	ENST00000300056.3	-	3	337	c.188A>G	c.(187-189)aAt>aGt	p.N63S	PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_Silent_p.Q24Q|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	63					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	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)			ATGTACCACATTGCCTAGTCT	0.448													23	48					0	0	0	0	C	90227164	T	C	90227164	3	2	16	1	0	0	0	0	1	0	0	0	11809	1493	52	5	559	5	PEX11A	15	90227164	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	3436220	90227164	12304228	397	3735											
NR2F2	7026	broad.mit.edu	37	chr15	96875646	96875646	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcaagagcttcttcaaGcgcagcgtgcggaggaacct	9	7	14	11	3	2	1	1	0	1	1	2	3	2	3	1	3	6	4	1	3	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:96875646G>C	ENST00000394166.3	+	1	1701	c.312G>C	c.(310-312)aaG>aaC	p.K104N	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	104					lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCTTCTTCAAGCGCAGCGTGC	0.612													8	28					0	0	0	0	C	96875646	G	C	96875646	3	2	16	1	0	0	0	0	1	0	0	0	10699	962	34	4	361	4	NR2F2	15	96875646	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	6648482	96875646	5655746	398	3736											
CREBBP	1387	broad.mit.edu	37	chr16	3781465	3781465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgtgcaggtggatcaCgaagaagacctgcaggagag	12	4	15	10	2	1	3	1	0	0	3	1	6	1	4	2	3	3	2	2	3	2	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:3781465C>A	ENST00000262367.5	-	30	5709	c.4900G>T	c.(4900-4902)Gtg>Ttg	p.V1634L	CREBBP_ENST00000382070.3_Missense_Mutation_p.V1596L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1634	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGTGGATCACGAAGAAGACC	0.642			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						6	1					0.00198382	0.00205112	1	0	A	3781465	C	A	3781465	3	1	16	1	0	0	0	0	1	0	0	0	3891	536	19	3	2436	3	CREBBP	16	3781465	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08		3781465	86573288	399	3737											
CLN3	1201	broad.mit.edu	37	chr16	28493805	28493805	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctcacttacaagtcccTggttaatgaaatactcggca	12	10	6	13	1	1	1	1	1	0	0	3	1	2	1	3	2	2	2	3	2	5	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:28493805T>A	ENST00000569430.1	-	13	1718	c.899A>T	c.(898-900)cAg>cTg	p.Q300L	CLN3_ENST00000568224.1_Missense_Mutation_p.Q222L|CLN3_ENST00000354630.5_Intron|CLN3_ENST00000333496.9_Missense_Mutation_p.Q276L|CLN3_ENST00000565316.1_Intron|CLN3_ENST00000395653.4_Missense_Mutation_p.Q200L|CLN3_ENST00000359984.7_Missense_Mutation_p.Q300L|CLN3_ENST00000357076.5_Missense_Mutation_p.Q190L|CLN3_ENST00000360019.2_Missense_Mutation_p.Q300L|CLN3_ENST00000355477.5_Missense_Mutation_p.Q252L|CLN3_ENST00000567963.1_Missense_Mutation_p.Q300L|CLN3_ENST00000357806.7_Missense_Mutation_p.Q201L|CLN3_ENST00000535392.1_Missense_Mutation_p.Q222L|CLN3_ENST00000357857.9_Missense_Mutation_p.Q246L			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	300					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TACAAGTCCCTGGTTAATGAA	0.547													22	38					0	0	0	0	A	28493805	T	A	28493805	3	1	16	1	0	0	0	0	1	0	0	0	3573	1580	55	5	437	5	CLN3	16	28493805	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	24712340	28493805	61860948	400	3738											
SEPHS2	22928	broad.mit.edu	37	chr16	30456594	30456594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacgttggcacaagctatgCgccccatcatgtagggatct	9	9	11	12	2	2	0	1	0	1	0	2	1	2	1	2	2	2	5	2	2	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:30456594C>A	ENST00000478753.2	-	1	908	c.455G>T	c.(454-456)cGc>cTc	p.R152L	SEPHS2_ENST00000500504.2_Missense_Mutation_p.R152L|SEPHS2_ENST00000542752.1_Missense_Mutation_p.R95L			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	152					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ACAAGCTATGCGCCCCATCAT	0.547													23	46					5.35047e-06	5.85351e-06	1	0	A	30456594	C	A	30456594	3	1	16	1	0	0	0	0	1	0	0	0	14142	768	27	3	895	3	SEPHS2	16	30456594	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1962789	30456594	59898159	401	3739											
PRSS36	146547	broad.mit.edu	37	chr16	31160510	31160510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggtgcccggctgcgcGtttgagccccccacgatgcg	4	6	15	16	5	0	1	0	1	0	0	0	2	0	1	5	3	4	2	5	3	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:31160510G>T	ENST00000268281.4	-	4	214	c.156C>A	c.(154-156)aaC>aaA	p.N52K	PRSS36_ENST00000418068.2_Missense_Mutation_p.N52K|PRSS36_ENST00000569305.1_Missense_Mutation_p.N52K	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	52	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCGGCTGCGCGTTTGAGCCCC	0.701													4	9					0.014758	0.015088	1	0	T	31160510	G	T	31160510	3	4	16	1	0	0	0	0	1	0	0	0	12704	1136	40	3	2459	3	PRSS36	16	31160510	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	703916	31160510	59194243	402	3740											
ITFG1	81533	broad.mit.edu	37	chr16	47345160	47345160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttccttaccttccagatGtgttctttagtatgaccaga	10	16	6	9	0	1	3	0	1	1	2	3	3	3	3	4	0	1	2	4	0	4	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:47345160G>A	ENST00000320640.6	-	10	1289	c.1061C>T	c.(1060-1062)aCa>aTa	p.T354I	ITFG1_ENST00000568047.1_5'UTR|RP11-474B12.1_ENST00000564739.1_RNA|ITFG1_ENST00000544001.2_Missense_Mutation_p.T241I	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	354						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CCTTCCAGATGTGTTCTTTAG	0.353													15	25					0	0	0	0	A	47345160	G	A	47345160	3	1	16	1	0	0	0	0	1	0	0	0	7922	1377	48	4	813	4	ITFG1	16	47345160	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	16184650	47345160	43009593	403	3741											
CNGB1	1258	broad.mit.edu	37	chr16	57931410	57931410	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacccgtgcgccaccacgtTggccgtgcgccggttcccgc	5	6	12	18	7	0	0	0	0	0	0	1	0	1	0	6	2	3	2	6	2	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:57931410T>A	ENST00000564448.1	-	31	3175	c.3115A>T	c.(3115-3117)Aac>Tac	p.N1039Y	CNGB1_ENST00000251102.8_Missense_Mutation_p.N1045Y			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1045					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCACCACGTTGGCCGTGCGC	0.557													14	33					0	0	0	0	A	57931410	T	A	57931410	3	1	16	1	0	0	0	0	1	0	0	0	3630	1812	63	5	634	5	CNGB1	16	57931410	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	10586250	57931410	32423343	404	3742											
CDH8	1006	broad.mit.edu	37	chr16	61935119	61935119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcacagtagcatgataggGtccattaagaaactctggtg	12	10	12	7	0	1	2	0	1	1	1	2	2	2	2	1	3	2	3	1	3	4	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:61935119G>T	ENST00000577390.1	-	3	1465	c.511C>A	c.(511-513)Ccc>Acc	p.P171T	CDH8_ENST00000577730.1_Missense_Mutation_p.P171T|CDH8_ENST00000299345.6_Missense_Mutation_p.P171T|CDH8_ENST00000584337.1_Missense_Mutation_p.P171T	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	171	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCATGATAGGGTCCATTAAGA	0.398													30	59					4.02929e-09	4.74034e-09	1	0	T	61935119	G	T	61935119	3	4	16	1	0	0	0	0	1	0	0	0	3145	1261	44	4	1928	4	CDH8	16	61935119	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	4003709	61935119	28419634	405	3743											
CDH11	1009	broad.mit.edu	37	chr16	64984725	64984725	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcgcctgtgctcaggccGgcgttcagaatgtaggcctc	6	8	15	12	3	2	1	2	0	0	1	3	1	2	1	3	4	1	3	3	4	2	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:64984725G>A	ENST00000394156.3	-	12	2292	c.1839C>T	c.(1837-1839)gcC>gcT	p.A613A	CDH11_ENST00000268603.4_Silent_p.A613A|CDH11_ENST00000566827.1_Silent_p.A487A			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	613					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGCTCAGGCCGGCGTTCAGAA	0.637			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			13	25					0	0	0	0	A	64984725	G	A	64984725	2	1	16	1	0	0	0	0	0	0	0	1	3126	1103	39	1		1	CDH11	16	64984725	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3049606	64984725	25370028	406	3744											
CDH11	1009	broad.mit.edu	37	chr16	65022110	65022110	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagtccgttgtgatttCaaacgattccataccatctc	10	15	5	11	2	3	1	2	1	1	0	6	2	5	1	3	0	2	1	3	0	3	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:65022110C>A	ENST00000394156.3	-	7	1402	c.949G>T	c.(949-951)Gaa>Taa	p.E317*	CDH11_ENST00000268603.4_Nonsense_Mutation_p.E317*|CDH11_ENST00000566827.1_Nonsense_Mutation_p.E191*			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	317	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTTGTGATTTCAAACGATTCC	0.443			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			71	106					9.42754e-34	1.43658e-33	1	0	A	65022110	C	A	65022110	4	1	16	1	0	0	0	0	0	1	0	0	3126	835	29	2	1469	2	CDH11	16	65022110	Nonsense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	37385	65022110	25332643	407	3745											
SLC12A4	6560	broad.mit.edu	37	chr16	67981323	67981323	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcctcggatcccgtcaccCcactccttctcagccctgca	6	8	7	20	2	2	0	2	0	1	0	6	1	4	1	6	2	2	1	6	2	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:67981323C>T	ENST00000422611.2	-	15	2028	c.1989G>A	c.(1987-1989)tgG>tgA	p.W663*	SLC12A4_ENST00000316341.3_Nonsense_Mutation_p.W661*|SLC12A4_ENST00000541864.2_Nonsense_Mutation_p.W630*|SLC12A4_ENST00000537830.2_Nonsense_Mutation_p.W655*|SLC12A4_ENST00000572037.1_Nonsense_Mutation_p.W613*|SLC12A4_ENST00000338335.3_Nonsense_Mutation_p.W661*|SLC12A4_ENST00000576616.1_Nonsense_Mutation_p.W661*	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	661					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCCGTCACCCCACTCCTTCT	0.667													5	10					0	0	0	0	T	67981323	C	T	67981323	4	4	16	1	0	0	0	0	0	1	0	0	14473	624	22	4	1310	4	SLC12A4	16	67981323	Nonsense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2959213	67981323	22373430	408	3746											
NFAT5	10725	broad.mit.edu	37	chr16	69727108	69727108	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagacttctacaacctcctCtgaacaaatgcagcctccaa	13	9	4	15	0	3	2	1	1	2	1	5	2	5	2	4	0	5	1	4	0	5	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:69727108C>G	ENST00000349945.1	+	14	4650	c.3098C>G	c.(3097-3099)tCt>tGt	p.S1033C	NFAT5_ENST00000393742.2_Missense_Mutation_p.S1033C|NFAT5_ENST00000432919.1_Missense_Mutation_p.S1127C|NFAT5_ENST00000567239.1_Missense_Mutation_p.S1126C|NFAT5_ENST00000354436.2_Missense_Mutation_p.S1109C|NFAT5_ENST00000566899.1_Missense_Mutation_p.S1033C	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1109					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACAACCTCCTCTGAACAAATG	0.438													35	122					0	0	0	0	G	69727108	C	G	69727108	3	3	16	1	0	0	0	0	1	0	0	0	10430	913	32	2	3430	2	NFAT5	16	69727108	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1745785	69727108	20627645	409	3747											
ZFHX3	463	broad.mit.edu	37	chr16	72821667	72821667	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgccgccggtggggacgTgaagcaccatctcttgcagg	6	6	15	14	5	1	1	0	1	1	0	2	2	1	2	4	4	2	2	4	4	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:72821667T>A	ENST00000268489.5	-	10	11180	c.10508A>T	c.(10507-10509)cAc>cTc	p.H3503L	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.H2589L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3503					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gGTGGGGACGTGAAGCACCAT	0.731													13	29					0	0	0	0	A	72821667	T	A	72821667	3	1	16	1	0	0	0	0	1	0	0	0	17729	1696	59	5	607	5	ZFHX3	16	72821667	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	3094559	72821667	17533086	410	3748											
ANKRD11	29123	broad.mit.edu	37	chr16	89351869	89351869	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caataggtgcttgtcgtccaCcggaggaaccctgtcctgct	7	10	11	13	2	0	0	0	0	0	0	3	2	2	2	4	3	3	2	4	3	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:89351869C>A	ENST00000301030.4	-	9	1541	c.1081G>T	c.(1081-1083)Gtg>Ttg	p.V361L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.V361L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	361						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)		TTGTCGTCCACCGGAGGAACC	0.468													60	125					1.92745e-42	2.97245e-42	1	0	A	89351869	C	A	89351869	3	1	16	1	0	0	0	0	1	0	0	0	639	507	18	4	6930	4	ANKRD11	16	89351869	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	16530202	89351869	1002884	411	3749											
PRPF8	10594	broad.mit.edu	37	chr17	1576801	1576801	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacgaagctgttctcccaCtgaactgtagtcactgaccg	10	9	9	13	2	2	2	1	2	1	0	3	4	2	2	2	0	2	3	2	0	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:1576801C>A	ENST00000572621.1	-	22	3772	c.3507G>T	c.(3505-3507)caG>caT	p.Q1169H	PRPF8_ENST00000304992.6_Missense_Mutation_p.Q1169H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1169						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTTCTCCCACTGAACTGTAG	0.547													29	57					2.4375e-19	3.38395e-19	1	0	A	1576801	C	A	1576801	3	1	16	1	0	0	0	0	1	0	0	0	12655	564	20	4	3584	4	PRPF8	17	1576801	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08		1576801	79618409	412	3750											
OR3A1	4994	broad.mit.edu	37	chr17	3195410	3195410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtcagtgcgttggtgAaagcacaagcccaggacgca	10	7	15	9	2	1	1	1	1	0	0	1	2	1	2	1	3	3	3	1	3	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:3195410A>G	ENST00000323404.1	-	1	466	c.467T>C	c.(466-468)tTc>tCc	p.F156S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGCGTTGGTGAAAGCACAAGC	0.572													47	102					0	0	0	0	G	3195410	A	G	3195410	3	3	16	1	0	0	0	0	1	0	0	0	11108	246	9	5	484	5	OR3A1	17	3195410	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	1618609	3195410	77999800	413	3751											
NLGN2	57555	broad.mit.edu	37	chr17	7317751	7317751	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacatgttcgatggctcAgtcctggctgcctatggcaa	9	10	12	10	1	1	0	1	0	0	0	3	2	2	1	2	4	2	4	2	4	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:7317751A>T	ENST00000302926.2	+	3	670	c.597A>T	c.(595-597)tcA>tcT	p.S199S	NLGN2_ENST00000575301.1_Silent_p.S199S	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	199					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TCGATGGCTCAGTCCTGGCTG	0.597													27	73					0	0	0	0	T	7317751	A	T	7317751	2	4	16	1	0	0	0	0	0	0	0	1	10532	175	7	5		5	NLGN2	17	7317751	Silent	SNP	A	TCGA-BA-6869-01A-11D-1870-08	4122341	7317751	73877459	414	3752											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	10	11	12	8	1	0	0	0	0	0	0	0	2	0	2	1	2	3	5	1	2	4	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:7577568C>A	ENST00000420246.2	-	7	845	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000269305.4_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAACTGTTACACATGTAGTT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	62					1.2644e-06	1.40489e-06	1	0	A	7577568	C	A	7577568	3	1	16	1	0	0	0	0	1	0	0	0	16476	478	17	4	577	4	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	259817	7577568	73617642	415	3753											
TP53	7157	broad.mit.edu	37	chr17	7578463	7578463	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggccatggcgcggacgCgggtgccgggcgggggtgtg	4	5	23	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	0	2	7	0	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:7578463C>G	ENST00000420246.2	-	5	599	c.467G>C	c.(466-468)cGc>cCc	p.R156P	TP53_ENST00000269305.4_Missense_Mutation_p.R156P|TP53_ENST00000445888.2_Missense_Mutation_p.R156P|TP53_ENST00000359597.4_Missense_Mutation_p.R156P|TP53_ENST00000455263.2_Missense_Mutation_p.R156P|TP53_ENST00000413465.2_Missense_Mutation_p.R156P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R156P(24)|p.R156H(10)|p.0?(8)|p.?(5)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCGCGGACGCGGGTGCCGGG	0.612		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	43					0	0	0	0	G	7578463	C	G	7578463	3	3	16	1	0	0	0	0	1	0	0	0	16476	768	27	3	831	3	TP53	17	7578463	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	895	7578463	73616747	416	3754											
DNAH2	146754	broad.mit.edu	37	chr17	7734089	7734089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacatgtcacagatgactgGgaccggcgcctgctgaccac	9	6	13	13	2	1	3	1	2	0	1	1	5	1	5	3	3	1	1	3	3	0	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:7734089G>T	ENST00000572933.1	+	79	13619	c.12159G>T	c.(12157-12159)tgG>tgT	p.W4053C	DNAH2_ENST00000389173.2_Missense_Mutation_p.W4053C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4053					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGATGACTGGGACCGGCGCC	0.547													18	43					3.41278e-10	4.0979e-10	1	0	T	7734089	G	T	7734089	3	4	16	1	0	0	0	0	1	0	0	0	4639	1241	43	4	12469	4	DNAH2	17	7734089	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	155626	7734089	73461121	417	3755											
ARHGEF15	22899	broad.mit.edu	37	chr17	8219105	8219105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgtcccgtgtgcgctCttccccccacatcagcgact	4	10	8	19	3	2	0	1	0	1	0	5	1	5	0	5	0	2	2	5	0	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:8219105C>A	ENST00000361926.3	+	8	1564	c.1454C>A	c.(1453-1455)tCt>tAt	p.S485Y	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S485Y	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	485	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CGTGTGCGCTCTTCCCCCCAC	0.577													17	18					5.35267e-07	5.99949e-07	1	0	A	8219105	C	A	8219105	3	1	16	1	0	0	0	0	1	0	0	0	900	913	32	2	1480	2	ARHGEF15	17	8219105	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	485016	8219105	72976105	418	3756											
PIK3R6	146850	broad.mit.edu	37	chr17	8707437	8707437	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtcccggctctggatcTggatattgttcgtcctgaag	5	14	12	10	2	3	1	0	1	3	0	6	3	5	3	2	4	0	2	2	4	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:8707437T>C	ENST00000311434.9	-	20	2266	c.2027A>G	c.(2026-2028)cAg>cGg	p.Q676R	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	677					platelet activation	cytosol											GCTCTGGATCTGGATATTGTT	0.587													12	20					0	0	0	0	C	8707437	T	C	8707437	3	2	16	1	0	0	0	0	1	0	0	0	11995	1580	55	5	242	5	PIK3R6	17	8707437	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	488332	8707437	72487773	419	3757											
GAS7	8522	broad.mit.edu	37	chr17	10101583	10101583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagcccgtcctccttctcgCcttcccaccagccgccgtcc	3	8	8	22	4	1	0	0	0	1	0	6	1	5	1	9	1	2	0	9	1	0	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:10101583C>A	ENST00000432992.2	-	1	285	c.125G>T	c.(124-126)gGc>gTc	p.G42V	GAS7_ENST00000540214.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	42	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CTCCTTCTCGCCTTCCCACCA	0.726			T	MLL	AML*								17	31					8.34094e-07	9.28382e-07	1	0	A	10101583	C	A	10101583	3	1	16	1	0	0	0	0	1	0	0	0	6299	739	26	4	1419	4	GAS7	17	10101583	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1394146	10101583	71093627	420	3758											
DNAH9	1770	broad.mit.edu	37	chr17	11757566	11757566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaagaccccgagttcaatCctgagtttgtggccaccaaa	11	9	9	12	1	1	2	1	1	0	1	2	3	2	2	5	1	1	3	5	1	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:11757566C>A	ENST00000262442.3	+	50	9822	c.9754C>A	c.(9754-9756)Cct>Act	p.P3252T	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3252T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3252	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGAGTTCAATCCTGAGTTTGT	0.488													40	106					1.69901e-12	2.16607e-12	1	0	A	11757566	C	A	11757566	3	1	16	1	0	0	0	0	1	0	0	0	4644	855	30	2	9952	2	DNAH9	17	11757566	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1655983	11757566	69437644	421	3759											
UBB	7314	broad.mit.edu	37	chr17	16285753	16285753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgacaccatcgaaaatGtgaaggccaagatccaagat	16	6	9	10	1	0	4	0	2	0	2	2	5	1	4	4	1	0	0	4	1	5	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:16285753G>A	ENST00000302182.3	+	2	924	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Missense_Mutation_p.V178M|UBB_ENST00000395839.1_Missense_Mutation_p.V178M|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Missense_Mutation_p.V102M	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	178	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CATCGAAAATGTGAAGGCCAA	0.552													21	47					0	0	0	0	A	16285753	G	A	16285753	3	1	16	1	0	0	0	0	1	0	0	0	16937	1377	48	4	534	4	UBB	17	16285753	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	4528187	16285753	64909457	422	3760											
TRIM16L	147166	broad.mit.edu	37	chr17	18638707	18638707	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaagaaggaaaacgccatCcggattgtagatctgggaga	14	7	12	8	2	1	3	0	0	1	3	3	6	3	5	3	3	1	1	3	3	5	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:18638707C>A	ENST00000449552.2	+	7	2465	c.981C>A	c.(979-981)atC>atA	p.I327I	TRIM16L_ENST00000571708.1_Silent_p.I327I|TRIM16L_ENST00000395671.4_Silent_p.I327I|TRIM16L_ENST00000395672.2_Silent_p.I327I|TRIM16L_ENST00000572555.1_Silent_p.I327I|TRIM16L_ENST00000395902.3_Silent_p.I381I|TRIM16L_ENST00000414850.2_3'UTR			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	327	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						AAAACGCCATCCGGATTGTAG	0.527													8	33					3.52763e-06	3.89256e-06	1	0	A	18638707	C	A	18638707	2	1	16	1	0	0	0	0	0	0	0	1	16587	845	30	2		2	TRIM16L	17	18638707	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2352954	18638707	62556503	423	3761											
UNC45B	146862	broad.mit.edu	37	chr17	33497240	33497241	+	Frame_Shift_Ins	INS	-	-	C																															gacgactttgtccaggacgtINSccctgccctgcaggccatgt																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:33497240_33497241insC	ENST00000268876.5	+	12	1752_1753	c.1655_1656insC	c.(1654-1656)gccfs	p.A552fs	UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000378449.1_Intron|UNC45B_ENST00000433649.1_Frame_Shift_Ins_p.A552fs|UNC45B_ENST00000394570.2_Frame_Shift_Ins_p.A552fs	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	552					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GTCCAGGACGTCCCTGCCCTGC	0.619													15	30	---	---	---	---					C	33497241	-	C	33497240	7	5	16	1	0	1	1	0	0	0	0	0	17085	1667	58	0	1697	0	UNC45B	17	33497240	Frame_Shift_Ins	INS	-	TCGA-BA-6869-01A-11D-1870-08	14858533	33497240	47697970	424	3762											
GAS2L2	246176	broad.mit.edu	37	chr17	34074283	34074283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggaagctgcctggcttGtgtgctaccaacagtccccc	7	10	10	14	0	1	0	1	0	0	0	2	1	2	1	4	2	5	3	4	2	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:34074283G>A	ENST00000254466.6	-	5	864	c.837C>T	c.(835-837)caC>caT	p.H279H	GAS2L2_ENST00000587565.1_Silent_p.H263H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	279					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCTGGCTTGTGTGCTACCA	0.597													52	101					0	0	0	0	A	34074283	G	A	34074283	2	1	16	1	0	0	0	0	0	0	0	1	6296	1368	48	4		4	GAS2L2	17	34074283	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	577043	34074283	47120927	425	3763											
TADA2A	6871	broad.mit.edu	37	chr17	35818669	35818669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctatcattccaggttaaaGgagagacaaagacgaaaaaa	20	7	8	6	1	2	2	1	0	1	2	3	5	3	3	1	2	0	1	1	2	7	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:35818669G>T	ENST00000394395.2	+	9	821	c.648G>T	c.(646-648)aaG>aaT	p.K216N	TADA2A_ENST00000586023.1_Missense_Mutation_p.K216N|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000417170.1_Missense_Mutation_p.K216N|TADA2A_ENST00000225396.6_Missense_Mutation_p.K216N	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	216					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CCAGGTTAAAGGAGAGACAAA	0.323													13	34					2.32078e-09	2.74041e-09	1	0	T	35818669	G	T	35818669	3	4	16	1	0	0	0	0	1	0	0	0	15601	991	35	4	678	4	TADA2A	17	35818669	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1744386	35818669	45376541	426	3764											
ORMDL3	94103	broad.mit.edu	37	chr17	38079494	38079494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagggtgtccccttcaccGtgtgcaggaagatatacatg	11	9	11	10	1	1	1	1	0	0	1	2	2	2	2	3	2	2	1	3	2	4	3	rs139204234	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:38079494G>A	ENST00000394169.1	-	5	1691	c.197C>T	c.(196-198)aCg>aTg	p.T66M	ORMDL3_ENST00000304046.2_Missense_Mutation_p.T66M|ORMDL3_ENST00000584220.1_Missense_Mutation_p.T50M|ORMDL3_ENST00000579695.1_Missense_Mutation_p.T66M			Q8N138	ORML3_HUMAN	ORM1-like 3 (S. cerevisiae)	66					ceramide metabolic process	integral to membrane|SPOTS complex	protein binding			endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CCCCTTCACCGTGTGCAGGAA	0.582													39	120					0	0	0	0	A	38079494	G	A	38079494	3	1	16	1	0	0	0	0	1	0	0	0	11342	1145	40	1	272	1	ORMDL3	17	38079494	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2260825	38079494	43115716	427	3765											
STAT5B	6777	broad.mit.edu	37	chr17	40362219	40362219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaagcaatggtgatgcCgccaatttctgagtcactga	10	11	9	11	1	2	3	1	3	1	0	3	3	3	3	3	1	2	1	3	1	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:40362219C>A	ENST00000293328.3	-	15	2044	c.1876G>T	c.(1876-1878)Ggc>Tgc	p.G626C		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	626	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	ATGGTGATGCCGCCAATTTCT	0.428													30	51					2.12542e-12	2.69894e-12	1	0	A	40362219	C	A	40362219	3	1	16	1	0	0	0	0	1	0	0	0	15359	652	23	3	507	3	STAT5B	17	40362219	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2282725	40362219	40832991	428	3766											
PLEKHH3	79990	broad.mit.edu	37	chr17	40822701	40822701	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagtcgggcgagtcctccaAcccagcttcctccgcggcca	6	6	12	17	4	0	0	0	0	0	0	5	2	4	1	6	3	2	1	6	3	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:40822701A>T	ENST00000293349.6	-	10	1865	c.1435T>A	c.(1435-1437)Ttg>Atg	p.L479M	PLEKHH3_ENST00000591022.1_Missense_Mutation_p.L482M|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.L479M			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	482	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GAGTCCTCCAACCCAGCTTCC	0.672													17	19					0	0	0	0	T	40822701	A	T	40822701	3	4	16	1	0	0	0	0	1	0	0	0	12150	40	2	5	953	5	PLEKHH3	17	40822701	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	460482	40822701	40372509	429	3767											
ARL4D	379	broad.mit.edu	37	chr17	41477216	41477216	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaagacctccctcctttAccgcctcaagttcaaggagt	10	10	8	13	1	2	1	2	0	0	1	4	3	4	3	5	2	1	1	5	2	4	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:41477216A>T	ENST00000320033.4	+	2	323	c.116A>T	c.(115-117)tAc>tTc	p.Y39F		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	39					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TCCCTCCTTTACCGCCTCAAG	0.592													20	40					0	0	0	0	T	41477216	A	T	41477216	3	4	16	1	0	0	0	0	1	0	0	0	942	391	14	5	118	5	ARL4D	17	41477216	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	654515	41477216	39717994	430	3768											
GPATCH8	23131	broad.mit.edu	37	chr17	42475961	42475961	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttccaagccagactcttCacacttcttattgggctttc	7	15	5	14	0	3	1	1	0	2	1	5	1	4	1	3	1	1	1	3	1	2	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:42475961C>A	ENST00000434000.1	-	9	3532	c.3250G>T	c.(3250-3252)Gaa>Taa	p.E1084*	GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.E1162*			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1162						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCAGACTCTTCACACTTCTTA	0.542													50	121					1.32667e-27	1.97e-27	1	0	A	42475961	C	A	42475961	4	1	16	1	0	0	0	0	0	1	0	0	6643	835	29	2	1028	2	GPATCH8	17	42475961	Nonsense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	998745	42475961	38719249	431	3769											
ADAM11	4185	broad.mit.edu	37	chr17	42852065	42852065	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgcctggctcacccctcaGgggactgcaagtgtccagac	7	7	11	16	1	2	1	2	0	0	1	4	2	4	2	5	3	1	2	5	3	1	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:42852065G>T	ENST00000200557.6	+	14	1337		c.e14-1		ADAM11_ENST00000535346.1_Splice_Site	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11						integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TCACCCCTCAGGGGACTGCAA	0.652													11	47					6.40141e-05	6.7942e-05	1	0	T	42852065	G	T	42852065	5	4	16	1	0	0	0	0	0	0	1	0	235	1014	35	4	1222	4	ADAM11	17	42852065	Splice_Site	SNP	G	TCGA-BA-6869-01A-11D-1870-08	376104	42852065	38343145	432	3770											
MAPT	4137	broad.mit.edu	37	chr17	44068882	44068882	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagcagcccctccaggccaGaagggccaggccaacgccac	10	1	13	17	1	0	1	0	0	0	1	1	2	1	2	7	4	3	1	7	4	2	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:44068882G>C	ENST00000344290.5	+	9	1759	c.1437G>C	c.(1435-1437)caG>caC	p.Q479H	MAPT_ENST00000351559.5_Missense_Mutation_p.Q162H|MAPT_ENST00000347967.5_Missense_Mutation_p.Q68H|MAPT_ENST00000340799.5_Missense_Mutation_p.Q133H|MAPT_ENST00000334239.8_Missense_Mutation_p.Q104H|MAPT_ENST00000262410.5_Missense_Mutation_p.Q479H|MAPT_ENST00000415613.2_Missense_Mutation_p.Q479H|MAPT_ENST00000571987.1_Missense_Mutation_p.Q479H|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.Q162H|MAPT_ENST00000446361.3_Missense_Mutation_p.Q104H|MAPT_ENST00000431008.3_Missense_Mutation_p.Q162H|MAPT_ENST00000420682.2_Missense_Mutation_p.Q133H|MAPT_ENST00000576518.1_Missense_Mutation_p.Q93H|MAPT_ENST00000574436.1_Missense_Mutation_p.Q162H	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	479					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CTCCAGGCCAGAAGGGCCAGG	0.542													37	94					0	0	0	0	C	44068882	G	C	44068882	3	2	16	1	0	0	0	0	1	0	0	0	9366	933	33	2	1467	2	MAPT	17	44068882	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1216817	44068882	37126328	433	3771											
OR4D2	124538	broad.mit.edu	37	chr17	56247544	56247544	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccccaacattttggataaCttctactgtgatgttcccca	9	13	7	12	0	1	1	0	1	1	0	2	2	2	2	4	2	3	1	4	2	3	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:56247544C>T	ENST00000545221.1	+	1	528	c.528C>T	c.(526-528)aaC>aaT	p.N176N		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TTTTGGATAACTTCTACTGTG	0.547													48	99					0	0	0	0	T	56247544	C	T	56247544	2	4	16	1	0	0	0	0	0	0	0	1	11127	564	20	4		4	OR4D2	17	56247544	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	12178662	56247544	24947666	434	3772											
C17orf82	388407	broad.mit.edu	37	chr17	59489603	59489603	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctcctgggcaccctccCgggagcgccttcggggtgga	3	7	17	14	3	1	0	0	0	1	0	4	2	2	2	4	6	1	1	4	6	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:59489603C>T	ENST00000335108.2	+	1	492	c.267C>T	c.(265-267)ccC>ccT	p.P89P		NM_203425.1	NP_982249.1	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	89										cervix(1)|lung(1)	2						GGCACCCTCCCGGGAGCGCCT	0.721											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	7					0	0	0	0	T	59489603	C	T	59489603	2	4	16	1	0	0	0	0	0	0	0	1	1903	639	23	1		1	C17orf82	17	59489603	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	3242059	59489603	21705607	435	3773											
ABCA6	23460	broad.mit.edu	37	chr17	67136824	67136824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttggtttgctgatacacGcttttctgtttcatattcat	6	20	7	8	1	3	1	2	1	1	0	3	1	3	1	0	1	2	5	0	1	2	8			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:67136824G>T	ENST00000284425.2	-	2	195	c.21C>A	c.(19-21)agC>agA	p.S7R	ABCA6_ENST00000590645.1_Missense_Mutation_p.S7R	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	7					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCTGATACACGCTTTTCTGTT	0.333													23	52					7.87624e-14	1.02247e-13	1	0	T	67136824	G	T	67136824	3	4	16	1	0	0	0	0	1	0	0	0	36	1078	38	3	4984	3	ABCA6	17	67136824	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	7647221	67136824	14058386	436	3774											
C17orf77	146723	broad.mit.edu	37	chr17	72588218	72588218	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgtcattttccctgacAtgtctccttcctgagaacag	7	13	8	13	1	2	2	1	2	1	1	5	3	4	2	3	0	1	1	3	0	1	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:72588218A>T	ENST00000392620.1	+	3	395	c.33A>T	c.(31-33)acA>acT	p.T11T	C17orf77_ENST00000328023.2_Silent_p.T11T|CD300LD_ENST00000375352.1_Intron	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	11						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TTTCCCTGACATGTCTCCTTC	0.478													48	92					0	0	0	0	T	72588218	A	T	72588218	2	4	16	1	0	0	0	0	0	0	0	1	1898	204	8	5		5	C17orf77	17	72588218	Silent	SNP	A	TCGA-BA-6869-01A-11D-1870-08	5451394	72588218	8606992	437	3775											
DLGAP1	9229	broad.mit.edu	37	chr18	3879384	3879384	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtactgtgaggccgagcggtCggggcacctgcccatggtca	6	7	16	12	3	1	1	1	1	0	0	2	2	1	1	3	5	3	2	3	5	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:3879384C>G	ENST00000315677.3	-	4	1280	c.685G>C	c.(685-687)Gac>Cac	p.D229H	DLGAP1_ENST00000581527.1_Missense_Mutation_p.D229H|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D229H|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D229H	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	229					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCCGAGCGGTCGGGGCACCTG	0.647													152	187					0	0	0	0	G	3879384	C	G	3879384	3	3	16	1	0	0	0	0	1	0	0	0	4596	884	31	3	2343	3	DLGAP1	18	3879384	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08		3879384	74197864	438	3776											
DLGAP1	9229	broad.mit.edu	37	chr18	3879506	3879506	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggccttgggctccgcgCgccgctccttgctcttgctg	0	10	14	17	5	1	0	0	0	1	0	3	0	3	0	5	2	2	4	5	2	0	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:3879506C>G	ENST00000315677.3	-	4	1158	c.563G>C	c.(562-564)cGc>cCc	p.R188P	DLGAP1_ENST00000581527.1_Missense_Mutation_p.R188P|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R188P|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R188P	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	188					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGGCTCCGCGCGCCGCTCCTT	0.711													53	258					0	0	0	0	G	3879506	C	G	3879506	3	3	16	1	0	0	0	0	1	0	0	0	4596	768	27	3	2465	3	DLGAP1	18	3879506	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	122	3879506	74197742	439	3777											
ASXL3	80816	broad.mit.edu	37	chr18	31224903	31224903	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgcaatgcttcacactaaCactcgaataggggatggaac	15	8	9	9	1	1	0	1	0	0	0	2	3	1	2	0	3	4	2	0	3	6	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:31224903C>T	ENST00000269197.5	+	3	183	c.183C>T	c.(181-183)aaC>aaT	p.N61N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTCACACTAACACTCGAATAG	0.393													3	8					0	0	0	0	T	31224903	C	T	31224903	2	4	16	1	0	0	0	0	0	0	0	1	1072	477	17	4		4	ASXL3	18	31224903	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	27345397	31224903	46852345	440	3778											
SETBP1	26040	broad.mit.edu	37	chr18	42532199	42532199	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctaatcaccaagttccAagtgttcagaatctcccacc	12	9	7	13	0	3	1	2	0	1	1	5	2	4	2	4	1	1	3	4	1	4	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:42532199A>G	ENST00000282030.5	+	4	3190	c.2894A>G	c.(2893-2895)cAa>cGa	p.Q965R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	965						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCAAGTTCCAAGTGTTCAGA	0.473									Schinzel-Giedion syndrome				52	58					0	0	0	0	G	42532199	A	G	42532199	3	3	16	1	0	0	0	0	1	0	0	0	14216	130	5	5	3097	5	SETBP1	18	42532199	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	11307296	42532199	35545049	441	3779											
SLC14A1	6563	broad.mit.edu	37	chr18	43316445	43316445	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttctcaagtgcattgaaTtccatgctcagcaaatggga	12	13	8	8	0	2	1	2	1	1	0	4	2	3	2	1	1	3	3	1	1	3	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:43316445T>C	ENST00000321925.4	+	6	727	c.495T>C	c.(493-495)aaT>aaC	p.N165N	SLC14A1_ENST00000589700.1_Silent_p.N165N|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000415427.3_Silent_p.N221N|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000436407.3_Silent_p.N221N|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000502059.2_Silent_p.N57N|SLC14A1_ENST00000402943.2_Silent_p.N60N|SLC14A1_ENST00000535474.1_Silent_p.N33N|SLC14A1_ENST00000586142.1_Silent_p.N165N	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	165						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GTGCATTGAATTCCATGCTCA	0.458													34	114					0	0	0	0	C	43316445	T	C	43316445	2	2	16	1	0	0	0	0	0	0	0	1	14484	1490	52	5		5	SLC14A1	18	43316445	Silent	SNP	T	TCGA-BA-6869-01A-11D-1870-08	784246	43316445	34760803	442	3780											
TCEB3C	162699	broad.mit.edu	37	chr18	44555173	44555173	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgccgagggcgtccggattGttcctaggcacccggaggca	6	7	15	13	5	0	0	0	0	0	0	3	3	2	2	4	5	0	3	4	5	1	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:44555173G>A	ENST00000330682.2	-	1	1276	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	347	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CGTCCGGATTGTTCCTAGGCA	0.647													43	1066					0	0	0	0	A	44555173	G	A	44555173	2	1	16	1	0	0	0	0	0	0	0	1	15777	1368	48	4		4	TCEB3C	18	44555173	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1238728	44555173	33522075	443	3781											
MBD1	4152	broad.mit.edu	37	chr18	47806252	47806252	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcccactacccacccagtaCctctggtaataggtgtctga	9	10	8	14	0	2	1	0	1	2	0	2	1	2	1	4	2	3	2	4	2	4	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:47806252C>T	ENST00000591416.1	-	2	542		c.e2+1		MBD1_ENST00000588937.1_Splice_Site|MBD1_ENST00000585672.1_Splice_Site|MBD1_ENST00000398495.2_Splice_Site|MBD1_ENST00000269468.5_Splice_Site|MBD1_ENST00000585595.1_Splice_Site|MBD1_ENST00000339998.6_Splice_Site|MBD1_ENST00000269471.5_Splice_Site|MBD1_ENST00000382948.5_Splice_Site|MBD1_ENST00000457839.2_Splice_Site|MBD1_ENST00000436910.1_Splice_Site|MBD1_ENST00000424334.2_Splice_Site|MBD1_ENST00000398488.1_Splice_Site|MBD1_ENST00000347968.3_Splice_Site|MBD1_ENST00000398493.1_Splice_Site|MBD1_ENST00000353909.3_Splice_Site|MBD1_ENST00000587605.1_Splice_Site|MBD1_ENST00000349085.2_Splice_Site|MBD1_ENST00000591535.1_Splice_Site|MBD1_ENST00000590208.1_Splice_Site			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1						negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCACCCAGTACCTCTGGTAAT	0.537													16	50					0	0	0	0	T	47806252	C	T	47806252	5	4	16	1	0	0	0	0	0	0	1	0	9411	521	18	4	1960	4	MBD1	18	47806252	Splice_Site	SNP	C	TCGA-BA-6869-01A-11D-1870-08	3251079	47806252	30270996	444	3782											
MRO	83876	broad.mit.edu	37	chr18	48331580	48331580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaagaaggaacccaaacCtttcccctggatcttgccca	12	9	7	13	0	1	2	0	1	1	1	2	4	2	4	5	2	3	0	5	2	5	3	rs143359256	by1000genomes	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:48331580C>T	ENST00000428869.2	-	6	631	c.373G>A	c.(373-375)Ggt>Agt	p.G125S	MRO_ENST00000587291.1_5'UTR|MRO_ENST00000436348.2_Missense_Mutation_p.G139S|MRO_ENST00000431965.2_Missense_Mutation_p.G139S|MRO_ENST00000588444.1_Missense_Mutation_p.G125S|MRO_ENST00000398439.3_Missense_Mutation_p.G125S|MRO_ENST00000256425.2_Missense_Mutation_p.G125S			Q9BYG7	MSTRO_HUMAN	maestro	125						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GAACCCAAACCTTTCCCCTGG	0.433													50	45					0	0	0	0	T	48331580	C	T	48331580	3	4	16	1	0	0	0	0	1	0	0	0	9842	681	24	4	389	4	MRO	18	48331580	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	525328	48331580	29745668	445	3783											
DCC	1630	broad.mit.edu	37	chr18	50450211	50450211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttacctggttacgaggcgagGaagtcatccaactcaggtat	11	10	11	9	2	2	0	2	0	0	0	3	3	3	1	2	4	3	2	2	4	5	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:50450211G>A	ENST00000442544.2	+	4	1448	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	DCC_ENST00000412726.1_Missense_Mutation_p.E126K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	278	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACGAGGCGAGGAAGTCATCCA	0.368													41	48					0	0	0	0	A	50450211	G	A	50450211	3	1	16	1	0	0	0	0	1	0	0	0	4314	1175	41	2	846	2	DCC	18	50450211	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2118631	50450211	27627037	446	3784											
CDH19	28513	broad.mit.edu	37	chr18	64239255	64239255	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaataagtacctggccgaTgtgatgactagtcgtattca	13	12	9	7	2	1	2	1	2	0	0	2	3	1	2	2	1	1	2	2	1	6	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:64239255T>C	ENST00000262150.2	-	2	479	c.187A>G	c.(187-189)Atc>Gtc	p.I63V	CDH19_ENST00000540086.1_Missense_Mutation_p.I63V	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	63	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ACCTGGCCGATGTGATGACTA	0.378													17	38					0	0	0	0	C	64239255	T	C	64239255	3	2	16	1	0	0	0	0	1	0	0	0	3133	1464	51	5	2175	5	CDH19	18	64239255	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	13789044	64239255	13837993	447	3785											
CNDP1	84735	broad.mit.edu	37	chr18	72247448	72247448	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgactctaggactacaccCgtggattgcaaatattgatg	12	11	9	9	1	1	2	0	2	1	0	1	4	1	4	1	2	2	1	1	2	4	5	rs144587048		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:72247448C>G	ENST00000582365.1	+	9	1187	c.1121C>G	c.(1120-1122)cCg>cGg	p.P374R	CNDP1_ENST00000358821.3_Missense_Mutation_p.P417R			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	417					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGACTACACCCGTGGATTGCA	0.443													12	36					0	0	0	0	G	72247448	C	G	72247448	3	3	16	1	0	0	0	0	1	0	0	0	3623	652	23	3	1288	3	CNDP1	18	72247448	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	8008193	72247448	5829800	448	3786											
NFATC1	4772	broad.mit.edu	37	chr18	77170505	77170505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccttcagacctccacacCgggcatcatcccgccggcgg	8	5	9	19	4	2	1	2	0	0	1	4	1	4	1	6	3	1	1	6	3	1	1	rs143045693		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:77170505C>T	ENST00000253506.5	+	2	599	c.230C>T	c.(229-231)cCg>cTg	p.P77L	NFATC1_ENST00000318065.5_Missense_Mutation_p.P64L|NFATC1_ENST00000592223.1_Missense_Mutation_p.P64L|NFATC1_ENST00000586434.1_Missense_Mutation_p.P64L|NFATC1_ENST00000591814.1_Missense_Mutation_p.P77L|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.P77L|NFATC1_ENST00000427363.2_Missense_Mutation_p.P77L|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.P77L|NFATC1_ENST00000329101.4_Missense_Mutation_p.P64L	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	77					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		ACCTCCACACCGGGCATCATC	0.692													32	37					0	0	0	0	T	77170505	C	T	77170505	3	4	16	1	0	0	0	0	1	0	0	0	10431	652	23	1	328	1	NFATC1	18	77170505	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	4923057	77170505	906743	449	3787											
ELANE	1991	broad.mit.edu	37	chr19	852883	852883	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgtccccaggcaccgcGctggcctcggagattgtggg	4	8	17	12	3	0	1	0	0	0	1	2	2	1	1	4	5	0	2	4	5	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:852883G>A	ENST00000590230.1	+	3	216	c.75G>A	c.(73-75)gcG>gcA	p.A25A	ELANE_ENST00000263621.1_Silent_p.A25A			P08246	ELNE_HUMAN	elastase, neutrophil expressed	25			A -> V (in SCN1).		cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CAGGCACCGCGCTGGCCTCGG	0.741													11	8					0	0	0	0	A	852883	G	A	852883	2	1	16	1	0	0	0	0	0	0	0	1	5086	1074	38	1		1	ELANE	19	852883	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08		852883	58276100	450	3788											
APC2	10297	broad.mit.edu	37	chr19	1466497	1466497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgcaagaggggccactctCgctgtcccgatgcagctccc	6	6	13	16	3	1	1	0	0	1	1	4	2	3	1	3	3	2	4	3	3	1	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:1466497C>T	ENST00000535453.1	+	14	4910	c.3197C>T	c.(3196-3198)tCg>tTg	p.S1066L	APC2_ENST00000238483.4_Missense_Mutation_p.S792L|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.S1066L			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1066	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		GGGCCACTCTCGCTGTCCCGA	0.682													5	10					0	0	0	0	T	1466497	C	T	1466497	3	4	16	1	0	0	0	0	1	0	0	0	765	893	31	1	3251	1	APC2	19	1466497	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	613614	1466497	57662486	451	3789											
MUC16	94025	broad.mit.edu	37	chr19	9070007	9070007	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacttctgtcctggagacCtcagtagtagtagtagtggg	10	12	12	7	0	2	1	1	0	1	1	3	2	3	1	2	2	1	4	2	2	5	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:9070007C>G	ENST00000397910.4	-	3	17642	c.17439G>C	c.(17437-17439)gaG>gaC	p.E5813D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5815	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						TCCTGGAGACCTCAGTAGTAG	0.493													21	75					0	0	0	0	G	9070007	C	G	9070007	3	3	16	1	0	0	0	0	1	0	0	0	10043	680	24	4	26412	4	MUC16	19	9070007	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	7603510	9070007	50058976	452	3790											
MUC16	94025	broad.mit.edu	37	chr19	9075389	9075389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccatgtaagggctgacGtccctcagttcaatagtcaa	10	11	10	10	1	3	1	3	1	0	0	5	1	5	1	2	1	0	3	2	1	4	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:9075389G>A	ENST00000397910.4	-	3	12260	c.12057C>T	c.(12055-12057)gaC>gaT	p.D4019D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4021	Ser-rich.|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						AAGGGCTGACGTCCCTCAGTT	0.473													27	56					0	0	0	0	A	9075389	G	A	9075389	2	1	16	1	0	0	0	0	0	0	0	1	10043	1136	40	1		1	MUC16	19	9075389	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	5382	9075389	50053594	453	3791											
DNM2	1785	broad.mit.edu	37	chr19	10893766	10893766	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatggccgaccgcatgggCacgccacatctgcagaagac	11	4	11	15	3	1	2	0	0	1	2	1	3	1	2	3	2	1	3	3	2	1	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:10893766C>T	ENST00000314646.5	+	6	983	c.819C>T	c.(817-819)ggC>ggT	p.G273G	DNM2_ENST00000359692.6_Silent_p.G273G|DNM2_ENST00000389253.4_Silent_p.G273G|DNM2_ENST00000585892.1_Silent_p.G273G|DNM2_ENST00000355667.6_Silent_p.G273G|DNM2_ENST00000408974.4_Silent_p.G273G			P50570	DYN2_HUMAN	dynamin 2	273					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ACCGCATGGGCACGCCACATC	0.577			"F, N, Splice, Mis, O"		ETP ALL								15	47					0	0	0	0	T	10893766	C	T	10893766	2	4	16	1	0	0	0	0	0	0	0	1	4708	697	25	4		4	DNM2	19	10893766	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1818377	10893766	48235217	454	3792											
ZNF443	10224	broad.mit.edu	37	chr19	12542408	12542408	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacatttataaggtccatctCcacgctgcactgccatgtgt	9	13	7	12	1	1	0	0	0	1	0	3	0	2	0	3	1	3	2	3	1	3	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:12542408C>G	ENST00000301547.5	-	4	775	c.578G>C	c.(577-579)gGa>gCa	p.G193A	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	193					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AGGTCCATCTCCACGCTGCAC	0.418													36	93					0	0	0	0	G	12542408	C	G	12542408	3	3	16	1	0	0	0	0	1	0	0	0	18011	855	30	2	1441	2	ZNF443	19	12542408	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1648642	12542408	46586575	455	3793											
CCDC130	81576	broad.mit.edu	37	chr19	13869957	13869957	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagacggacgccatgttccgGctggagcatggcgaggccga	8	5	17	11	5	0	1	0	0	0	1	1	6	1	3	3	5	1	3	3	5	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:13869957G>T	ENST00000586600.1	+	9	947	c.444G>T	c.(442-444)cgG>cgT	p.R148R	CCDC130_ENST00000221554.8_Silent_p.R148R|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	148					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CCATGTTCCGGCTGGAGCATG	0.652													4	10					0.00909568	0.00931398	1	0	T	13869957	G	T	13869957	2	4	16	1	0	0	0	0	0	0	0	1	2791	1190	42	4		4	CCDC130	19	13869957	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1327549	13869957	45259026	456	3794											
RFX1	5989	broad.mit.edu	37	chr19	14104570	14104570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggtggtggcggtggcGgctggggctgggcttgtggc	0	9	25	7	2	0	0	0	0	0	0	0	0	0	0	0	11	0	3	0	11	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:14104570G>A	ENST00000254325.4	-	2	320	c.86C>T	c.(85-87)cCg>cTg	p.P29L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	29					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tggcggtggcggctggggctg	0.711													5	15					0	0	0	0	A	14104570	G	A	14104570	3	1	16	1	0	0	0	0	1	0	0	0	13344	1116	39	1	2933	1	RFX1	19	14104570	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	234613	14104570	45024413	457	3795											
FCHO1	23149	broad.mit.edu	37	chr19	17887482	17887482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagagacctcggtctgccCccagaaccagcaggtgggtt	8	6	12	15	1	1	2	0	0	1	2	2	3	1	2	5	3	3	2	5	3	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:17887482C>G	ENST00000594202.1	+	18	1525	c.1246C>G	c.(1246-1248)Ccc>Gcc	p.P416A	FCHO1_ENST00000252771.7_Missense_Mutation_p.P416A|FCHO1_ENST00000539407.1_Missense_Mutation_p.P416A|FCHO1_ENST00000389133.4_Missense_Mutation_p.P416A|FCHO1_ENST00000595033.1_Missense_Mutation_p.P366A|FCHO1_ENST00000597512.1_Missense_Mutation_p.P423A|FCHO1_ENST00000600676.1_Missense_Mutation_p.P416A|FCHO1_ENST00000596536.1_Missense_Mutation_p.P416A|FCHO1_ENST00000596951.1_Missense_Mutation_p.P416A	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	416										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCGGTCTGCCCCCAGAACCAG	0.637													13	41					0	0	0	0	G	17887482	C	G	17887482	3	3	16	1	0	0	0	0	1	0	0	0	5832	623	22	4	1304	4	FCHO1	19	17887482	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	3782912	17887482	41241501	458	3796											
ZNF90	7643	broad.mit.edu	37	chr19	20229413	20229413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatgtggcaaagccttCaggcgctccttagtccttcg	9	10	11	11	2	1	1	1	0	0	1	4	2	3	1	3	2	1	2	3	2	4	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:20229413C>A	ENST00000418063.2	+	4	1162	c.1050C>A	c.(1048-1050)ttC>ttA	p.F350L	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	350						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GCAAAGCCTTCAGGCGCTCCT	0.423													14	23					6.81908e-15	9.01696e-15	1	0	A	20229413	C	A	20229413	3	1	16	1	0	0	0	0	1	0	0	0	18292	825	29	2	1064	2	ZNF90	19	20229413	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2341931	20229413	38899570	459	3797											
ZNF430	80264	broad.mit.edu	37	chr19	21205625	21205625	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctggagtgtatcctctcAaggaagcaagtggatgccct	10	10	12	9	0	2	0	1	0	2	0	4	3	3	3	2	3	2	2	2	3	4	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:21205625A>T	ENST00000261560.5	+	2	215	c.34A>T	c.(34-36)Aag>Tag	p.K12*	ZNF430_ENST00000599548.1_Nonsense_Mutation_p.K12*|ZNF430_ENST00000595401.1_Nonsense_Mutation_p.K12*	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GTATCCTCTCAAGGAAGCAAG	0.448													33	74					0	0	0	0	T	21205625	A	T	21205625	4	4	16	1	0	0	0	0	0	1	0	0	17999	131	5	5	40	5	ZNF430	19	21205625	Nonsense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	976212	21205625	37923358	460	3798											
ZNF208	7757	broad.mit.edu	37	chr19	22154585	22154585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacattcttcacatttgtagGgttcctctccagcatgagtt	8	15	7	11	0	3	1	1	1	2	0	5	1	4	1	2	1	1	4	2	1	1	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:22154585G>T	ENST00000397126.4	-	4	3399	c.3251C>A	c.(3250-3252)cCc>cAc	p.P1084H	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTTGTAGGGTTCCTCTCC	0.428													36	86					1.03484e-13	1.34068e-13	1	0	T	22154585	G	T	22154585	3	4	16	1	0	0	0	0	1	0	0	0	17861	1232	43	4	595	4	ZNF208	19	22154585	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	948960	22154585	36974398	461	3799											
ZNF676	163223	broad.mit.edu	37	chr19	22363718	22363718	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgccttatgtgtattaagGgttgagacgctactaaatcc	11	14	9	7	1	0	1	0	1	0	1	1	2	1	1	2	1	2	3	2	1	6	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:22363718G>A	ENST00000397121.2	-	3	1118	c.801C>T	c.(799-801)acC>acT	p.T267T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTGTATTAAGGGTTGAGACGC	0.388													23	60					0	0	0	0	A	22363718	G	A	22363718	2	1	16	1	0	0	0	0	0	0	0	1	18178	1219	43	4		4	ZNF676	19	22363718	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	209133	22363718	36765265	462	3800											
LGI4	163175	broad.mit.edu	37	chr19	35617862	35617862	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgtgaggctccccttGgtaggagaagggctctacgc	9	8	13	11	1	1	2	0	1	1	1	2	3	2	2	2	4	1	3	2	4	4	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:35617862G>A	ENST00000392225.3	-	7	1207	c.688C>T	c.(688-690)Caa>Taa	p.Q230*	LGI4_ENST00000310123.3_Nonsense_Mutation_p.Q230*|LGI4_ENST00000493050.1_5'UTR			Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	230						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCTCCCCTTGGTAGGAGAAG	0.652													15	43					0	0	0	0	A	35617862	G	A	35617862	4	1	16	1	0	0	0	0	0	1	0	0	8808	1357	47	4	937	4	LGI4	19	35617862	Nonsense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	13254144	35617862	23511121	463	3801											
ZNF568	374900	broad.mit.edu	37	chr19	37488355	37488355	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcaaaaagttcacactgggGagagaccccataagtgtaag	16	7	10	8	0	2	1	2	0	0	1	2	3	2	2	2	2	0	2	2	2	4	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:37488355G>T	ENST00000455427.2	+	9	1899	c.1570G>T	c.(1570-1572)Gag>Tag	p.E524*		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACTGGGGAGAGACCCCA	0.448													5	13					0.000602214	0.000627715	1	0	T	37488355	G	T	37488355	4	4	16	1	0	0	0	0	0	1	0	0	18094	1189	41	2		2	ZNF568	19	37488355	Nonsense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1870493	37488355	21640628	464	3802											
RYR1	6261	broad.mit.edu	37	chr19	38948913	38948913	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctattcctacggctttgaTggactgcatctctggacagg	7	13	10	11	1	2	1	0	1	2	0	4	3	3	3	1	4	2	2	1	4	2	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:38948913T>A	ENST00000355481.4	+	18	2279	c.2148T>A	c.(2146-2148)gaT>gaA	p.D716E	RYR1_ENST00000360985.3_Missense_Mutation_p.D716E|RYR1_ENST00000359596.3_Missense_Mutation_p.D716E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	716	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACGGCTTTGATGGACTGCATC	0.632													23	79					0	0	0	0	A	38948913	T	A	38948913	3	1	16	1	0	0	0	0	1	0	0	0	13853	1461	51	5	2218	5	RYR1	19	38948913	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	1460558	38948913	20180070	465	3803											
DYRK1B	9149	broad.mit.edu	37	chr19	40317964	40317964	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcgtagggtccagccaccCccaggcagccgttcaaagta	9	7	10	15	2	1	0	1	0	0	0	3	0	2	0	5	2	2	4	5	2	3	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:40317964C>A	ENST00000593685.1	-	8	1524	c.1056G>T	c.(1054-1056)ggG>ggT	p.G352G	DYRK1B_ENST00000430012.2_Silent_p.G352G|DYRK1B_ENST00000597639.1_Silent_p.G352G|DYRK1B_ENST00000323039.5_Silent_p.G352G|DYRK1B_ENST00000348817.3_Silent_p.G352G			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	352	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TCCAGCCACCCCCAGGCAGCC	0.652													14	23					6.72482e-11	8.24499e-11	1	0	A	40317964	C	A	40317964	2	1	16	1	0	0	0	0	0	0	0	1	4891	610	22	4		4	DYRK1B	19	40317964	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1369051	40317964	18811019	466	3804											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41809959	41809959	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaacaactccaacaacagAggcagctacaaccgggctcc	16	3	7	15	1	0	1	0	0	0	1	2	1	2	1	3	2	8	3	3	2	7	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:41809959A>T	ENST00000392006.3	+	13	2228	c.2055A>T	c.(2053-2055)agA>agT	p.R685S	HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R685S|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R596S|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R585S|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R585S|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R585S|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R571S	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	685	Asn-rich.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCAACAACAGAGGCAGCTACA	0.612													37	56					0	0	0	0	T	41809959	A	T	41809959	3	4	16	1	0	0	0	0	1	0	0	0	7324	301	11	5	2105	5	HNRNPUL1	19	41809959	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	1491995	41809959	17319024	467	3805											
EXOC3L2	90332	broad.mit.edu	37	chr19	45731307	45731307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcctggctgatgcggggtGctcgctctgtgtgctcttcc	2	13	13	13	2	2	1	0	1	2	0	5	1	4	1	2	3	3	4	2	3	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:45731307G>A	ENST00000413988.1	-	4	258	c.218C>T	c.(217-219)gCa>gTa	p.A73V	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.A73V	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	73										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GATGCGGGGTGCTCGCTCTGT	0.637													8	26					0	0	0	0	A	45731307	G	A	45731307	3	1	16	1	0	0	0	0	1	0	0	0	5342	1319	46	4	1039	4	EXOC3L2	19	45731307	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3921348	45731307	13397676	468	3806											
ARHGAP35	2909	broad.mit.edu	37	chr19	47422368	47422368	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggctggagcaggactttGagcagaaacaaatgccagac	13	6	14	8	0	0	3	0	1	0	2	0	5	0	5	1	4	4	3	1	4	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:47422368G>T	ENST00000404338.3	+	1	436	c.436G>T	c.(436-438)Gag>Tag	p.E146*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	146					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GCAGGACTTTGAGCAGAAACA	0.483													26	45					7.92952e-12	9.9119e-12	1	0	T	47422368	G	T	47422368	4	4	16	1	0	0	0	0	0	1	0	0	6845	1291	45	2	438	2	ARHGAP35	19	47422368	Nonsense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1691061	47422368	11706615	469	3807											
CCDC155	147872	broad.mit.edu	37	chr19	49902726	49902726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtcaggaaaaggagcagCagcatctggtggctgagatg	11	8	16	6	0	2	1	1	1	1	1	2	4	2	3	0	5	3	4	0	5	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:49902726C>G	ENST00000447857.3	+	9	965	c.760C>G	c.(760-762)Cag>Gag	p.Q254E		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	254						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						AAAGGAGCAGCAGCATCTGGT	0.572													7	9					0	0	0	0	G	49902726	C	G	49902726	3	3	16	1	0	0	0	0	1	0	0	0	2814	711	25	4	790	4	CCDC155	19	49902726	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2480358	49902726	9226257	470	3808											
HAS1	3036	broad.mit.edu	37	chr19	52222623	52222623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcccgataggctccggCgcccaccgcgcccgccgccg	4	3	11	23	8	0	0	0	0	0	0	2	1	2	0	8	2	0	1	8	2	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:52222623C>A	ENST00000540069.2	-	2	595	c.535G>T	c.(535-537)Gcc>Tcc	p.A179S	HAS1_ENST00000222115.1_Missense_Mutation_p.A180S|HAS1_ENST00000594621.1_Missense_Mutation_p.A34S|HAS1_ENST00000601714.1_Missense_Mutation_p.A187S			Q92839	HAS1_HUMAN	hyaluronan synthase 1	180					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TAGGCTccggcgcccaccgcg	0.726													3	8					0.004672	0.00479949	1	0	A	52222623	C	A	52222623	3	1	16	1	0	0	0	0	1	0	0	0	7011	768	27	3	1214	3	HAS1	19	52222623	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2319897	52222623	6906360	471	3809											
FPR2	2358	broad.mit.edu	37	chr19	52272136	52272136	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgacttttctttcacGgccacattaccattcctcat	7	15	5	14	1	3	1	2	1	1	0	4	1	4	1	3	2	1	1	3	2	1	5	rs147854636		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:52272136G>C	ENST00000598776.1	+	2	997	c.225G>C	c.(223-225)acG>acC	p.T75T	FPR2_ENST00000340023.6_Silent_p.T75T|FPR2_ENST00000598953.1_Silent_p.T75T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	75					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTTCTTTCACGGCCACATTAC	0.512													28	88					0	0	0	0	C	52272136	G	C	52272136	2	2	16	1	0	0	0	0	0	0	0	1	6086	1103	39	3		3	FPR2	19	52272136	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	49513	52272136	6856847	472	3810											
ZNF761	388561	broad.mit.edu	37	chr19	53960016	53960016	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgtaatgaatgtggtgagGtttttaatcaacaagcacac	14	12	10	5	0	1	2	1	2	0	0	1	2	1	2	0	2	2	3	0	2	5	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:53960016G>C	ENST00000454407.1	+	0	2708							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATGTGGTGAGGTTTTTAATCA	0.388													6	70					0	0	0	0	C	53960016	G	C	53960016	1	2	16	0	1	0	0	0	0	0	0	0	18230	1276	44	4		4	ZNF761	19	53960016	RNA	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1687880	53960016	5168967	473	3811											
PTPRH	5794	broad.mit.edu	37	chr19	55707974	55707974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggtggctgggtaggaccGagccggcccgagacccaaca	9	4	16	12	3	0	1	0	0	0	1	0	5	0	2	4	5	2	2	4	5	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:55707974G>A	ENST00000376350.3	-	10	2195	c.2173C>T	c.(2173-2175)Cgg>Tgg	p.R725W	PTPRH_ENST00000263434.5_Missense_Mutation_p.R547W|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	725	Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGGTAGGACCGAGCCGGCCCG	0.632													29	44					0	0	0	0	A	55707974	G	A	55707974	3	1	16	1	0	0	0	0	1	0	0	0	12885	1057	37	1	1218	1	PTPRH	19	55707974	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1747958	55707974	3421009	474	3812											
BRSK1	84446	broad.mit.edu	37	chr19	55817783	55817783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgggacggcagcggaggtgGtggcatctactccgtcacct	7	7	15	12	4	2	0	1	0	1	0	3	2	3	2	2	6	2	2	2	6	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:55817783G>A	ENST00000309383.1	+	17	2331	c.2054G>A	c.(2053-2055)gGt>gAt	p.G685D	BRSK1_ENST00000590333.1_Missense_Mutation_p.G701D|BRSK1_ENST00000326848.7_Missense_Mutation_p.G380D	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	685					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGCGGAGGTGGTGGCATCTAC	0.642													9	33					0	0	0	0	A	55817783	G	A	55817783	3	1	16	1	0	0	0	0	1	0	0	0	1531	1261	44	4	2120	4	BRSK1	19	55817783	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	109809	55817783	3311200	475	3813											
ZNF256	10172	broad.mit.edu	37	chr19	58453833	58453833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtctgtatacagtttctGaccatggtgtgttccttggt	5	16	10	10	1	2	1	0	1	2	0	3	1	3	1	3	2	1	3	3	2	2	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:58453833G>T	ENST00000282308.3	-	3	539	c.343C>A	c.(343-345)Cag>Aag	p.Q115K	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	115					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TACAGTTTCTGACCATGGTGT	0.473													42	103					3.66854e-30	5.53742e-30	1	0	T	58453833	G	T	58453833	3	4	16	1	0	0	0	0	1	0	0	0	17894	1299	45	2	1544	2	ZNF256	19	58453833	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2636050	58453833	675150	476	3814											
ZNF324	25799	broad.mit.edu	37	chr19	58983146	58983146	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccttcgcctgcccacaGtgcggccgcgcctttagcca	6	7	10	18	4	0	0	0	0	0	0	1	0	0	0	6	1	4	0	6	1	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:58983146G>C	ENST00000536459.2	+	4	1996	c.1287G>C	c.(1285-1287)caG>caC	p.Q429H	ZNF324_ENST00000196482.3_Missense_Mutation_p.Q429H|ZNF324_ENST00000535298.1_Missense_Mutation_p.Q206H			O75467	Z324A_HUMAN	zinc finger protein 324	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCTGCCCACAGTGCGGCCGCG	0.677													14	31					0	0	0	0	C	58983146	G	C	58983146	3	2	16	1	0	0	0	0	1	0	0	0	17939	1020	36	4	1297	4	ZNF324	19	58983146	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	529313	58983146	145837	477	3815											
C20orf27	54976	broad.mit.edu	37	chr20	3735131	3735131	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctctttgaggacgccctCtttgtgcgccgagtactcac	5	12	9	15	3	3	1	1	1	2	0	4	3	4	2	3	1	2	1	3	1	1	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:3735131C>G	ENST00000379772.3	-	5	1147	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	C20orf27_ENST00000217195.8_Missense_Mutation_p.E138Q	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	113										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						AGGACGCCCTCTTTGTGCGCC	0.632													24	53					0	0	0	0	G	3735131	C	G	3735131	3	3	16	1	0	0	0	0	1	0	0	0	2127	922	32	2	195	2	C20orf27	20	3735131	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08		3735131	59290389	478	3816											
PAK7	57144	broad.mit.edu	37	chr20	9561116	9561116	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagaggggagctactcgaGgctctctgatactcccactt	8	10	10	13	1	1	2	0	1	1	1	5	4	3	3	2	3	3	2	2	3	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:9561116G>T	ENST00000378429.3	-	5	1212	c.666C>A	c.(664-666)gcC>gcA	p.A222A	PAK7_ENST00000353224.5_Silent_p.A222A|PAK7_ENST00000378423.1_Silent_p.A222A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	222	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGCTACTCGAGGCTCTCTGAT	0.488													20	43					2.39187e-15	3.18745e-15	1	0	T	9561116	G	T	9561116	2	4	16	1	0	0	0	0	0	0	0	1	11476	987	35	4		4	PAK7	20	9561116	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	5825985	9561116	53464404	479	3817											
FLRT3	23767	broad.mit.edu	37	chr20	14306693	14306694	+	Frame_Shift_Ins	INS	-	-	T																															agtttcatcaaataggtagaINSggttgctggtttccatggga																								rs144984452		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:14306693_14306694insT	ENST00000378053.3	-	2	1715_1716	c.1459_1460insA	c.(1459-1461)ctafs	p.L487fs	FLRT3_ENST00000341420.4_Frame_Shift_Ins_p.L487fs|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	487	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AAATAGGTAGAGGTTGCTGGTT	0.455													26	89	---	---	---	---					T	14306694	-	T	14306693	7	5	16	1	0	1	1	0	0	0	0	0	5985	304	11	0	493	0	FLRT3	20	14306693	Frame_Shift_Ins	INS	-	TCGA-BA-6869-01A-11D-1870-08	4745577	14306693	48718827	480	3818											
BPI	671	broad.mit.edu	37	chr20	36952317	36952317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaatccacctccctttgctCcaccagtgatggagtttccc	8	11	6	16	0	0	1	0	1	0	0	4	2	4	2	6	1	1	2	6	1	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:36952317C>T	ENST00000262865.4	+	8	903	c.814C>T	c.(814-816)Cca>Tca	p.P272S	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_Intron	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	272					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCCCTTTGCTCCACCAGTGAT	0.522													23	45					0	0	0	0	T	36952317	C	T	36952317	3	4	16	1	0	0	0	0	1	0	0	0	1498	855	30	2	844	2	BPI	20	36952317	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	22645624	36952317	26073203	481	3819											
ACTR5	79913	broad.mit.edu	37	chr20	37378668	37378668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtagggctgtgttgatcatCccatagttttgacagaagct	10	13	11	7	0	1	3	1	2	0	1	2	3	2	3	1	1	1	5	1	1	3	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:37378668C>T	ENST00000243903.4	+	2	428	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	131					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TGTTGATCATCCCATAGTTTT	0.413													23	55					0	0	0	0	T	37378668	C	T	37378668	3	4	16	1	0	0	0	0	1	0	0	0	215	855	30	2	397	2	ACTR5	20	37378668	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	426351	37378668	25646852	482	3820											
ZNF831	128611	broad.mit.edu	37	chr20	57769304	57769304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagccaccgtatccatcGcctctgcatgggcagcactt	8	9	9	15	2	1	1	0	1	1	0	3	1	2	1	4	1	3	4	4	1	1	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:57769304G>T	ENST00000371030.2	+	1	3230	c.3230G>T	c.(3229-3231)cGc>cTc	p.R1077L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1077						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGTATCCATCGCCTCTGCATG	0.637													10	32					1.76689e-08	2.03383e-08	1	0	T	57769304	G	T	57769304	3	4	16	1	0	0	0	0	1	0	0	0	18278	1087	38	3	3232	3	ZNF831	20	57769304	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	20390636	57769304	5256216	483	3821											
TAF4	6874	broad.mit.edu	37	chr20	60581806	60581806	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcagctgtctcaaggcgggTaagctcctctgggtggaaag	8	9	15	9	1	3	0	2	0	2	0	5	1	4	1	1	4	2	3	1	4	3	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:60581806T>C	ENST00000252996.3	-	7	1982	c.1983A>G	c.(1981-1983)ttA>ttG	p.L661L	TAF4_ENST00000488539.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	661	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCAAGGCGGGTAAGCTCCTCT	0.587													16	27					0	0	0	0	C	60581806	T	C	60581806	2	2	16	1	0	0	0	0	0	0	0	1	15617	1635	57	5		5	TAF4	20	60581806	Silent	SNP	T	TCGA-BA-6869-01A-11D-1870-08	2812502	60581806	2443714	484	3822											
ZNF512B	57473	broad.mit.edu	37	chr20	62597874	62597874	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgactggcatgggtctgccGaccgagactggcttgctgat	6	10	15	10	2	1	3	0	2	1	1	1	5	1	3	2	3	2	3	2	3	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:62597874G>A	ENST00000450537.1	-	5	714	c.654C>T	c.(652-654)gtC>gtT	p.V218V	ZNF512B_ENST00000217130.3_Silent_p.V218V|ZNF512B_ENST00000369888.1_Silent_p.V218V			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGGTCTGCCGACCGAGACTG	0.597													65	165					0	0	0	0	A	62597874	G	A	62597874	2	1	16	1	0	0	0	0	0	0	0	1	18052	1045	37	1		1	ZNF512B	20	62597874	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2016068	62597874	427646	485	3823											
BAGE2	85319	broad.mit.edu	37	chr21	11039216	11039216	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaattttggaggccttGattcttctttggataccact	9	16	8	8	0	2	2	0	2	2	0	2	4	2	4	2	3	1	0	2	3	2	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:11039216G>T	ENST00000470054.1	-	0	987									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGAGGCCTTGATTCTTCTTT	0.428													22	266					9.95505e-16	1.33849e-15	1	0	T	11039216	G	T	11039216	1	4	16	0	1	0	0	0	0	0	0	0	1296	1305	45	2		2	BAGE2	21	11039216	RNA	SNP	G	TCGA-BA-6869-01A-11D-1870-08		11039216	37090679	486	3824											
KRTAP6-2	337967	broad.mit.edu	37	chr21	31971084	31971084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccatgaccatagccacagCaggagctatagccacagcgc	13	4	10	14	1	0	1	0	1	0	0	0	2	0	2	4	1	6	2	4	1	3	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:31971084C>G	ENST00000334897.3	-	1	135	c.110G>C	c.(109-111)tGc>tCc	p.C37S		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	37						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						ATAGCCACAGCAGGAGCTATA	0.562													14	39					0	0	0	0	G	31971084	C	G	31971084	3	3	16	1	0	0	0	0	1	0	0	0	8623	710	25	4	81	4	KRTAP6-2	21	31971084	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	20931868	31971084	16158811	487	3825											
SYNJ1	8867	broad.mit.edu	37	chr21	34018775	34018775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaagggaaggtacaggacCctctgatattgtaggtgact	11	9	15	6	0	1	2	0	2	1	0	1	5	1	5	1	5	1	2	1	5	5	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:34018775C>A	ENST00000382499.2	-	24	3291	c.3292G>T	c.(3292-3294)Ggt>Tgt	p.G1098C	SYNJ1_ENST00000433931.2_Missense_Mutation_p.G1098C|SYNJ1_ENST00000357345.3_Missense_Mutation_p.G1059C|SYNJ1_ENST00000382491.3_Missense_Mutation_p.G1054C|SYNJ1_ENST00000322229.7_Missense_Mutation_p.G1059C	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1059	Pro-rich.			Missing (in Ref. 1; BAA74933).			inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGTACAGGACCCTCTGATATT	0.517													61	99					3.95532e-38	6.07052e-38	1	0	A	34018775	C	A	34018775	3	1	16	1	0	0	0	0	1	0	0	0	15543	623	22	4	1607	4	SYNJ1	21	34018775	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	2047691	34018775	14111120	488	3826											
CLIC6	54102	broad.mit.edu	37	chr21	36042977	36042977	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtagcggcgaggccgcGcgcgtgaacggccgccggga	6	2	21	12	9	0	1	0	1	0	0	0	4	0	2	3	5	2	1	3	5	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:36042977G>C	ENST00000360731.3	+	1	1290	c.1290G>C	c.(1288-1290)gcG>gcC	p.A430A	CLIC6_ENST00000349499.2_Silent_p.A430A			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	430						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GCGAGGCCGCGCGCGTGAACG	0.741													5	4					0	0	0	0	C	36042977	G	C	36042977	2	2	16	1	0	0	0	0	0	0	0	1	3560	1074	38	3		3	CLIC6	21	36042977	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2024202	36042977	12086918	489	3827											
DSCAM	1826	broad.mit.edu	37	chr21	41505903	41505903	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccagctccagtgaaggcTgtgtggtggtgatgttttta	6	14	14	7	1	0	2	0	2	0	0	2	2	2	2	2	3	1	3	2	3	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:41505903T>A	ENST00000400454.1	-	19	3917	c.3440A>T	c.(3439-3441)cAg>cTg	p.Q1147L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1147	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGTGAAGGCTGTGTGGTGGT	0.532													18	38					0	0	0	0	A	41505903	T	A	41505903	3	1	16	1	0	0	0	0	1	0	0	0	4804	1580	55	5	2658	5	DSCAM	21	41505903	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	5462926	41505903	6623992	490	3828											
MCM3AP	8888	broad.mit.edu	37	chr21	47704494	47704494	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatattgacttaggtcctCtcttctcttcctctacattt	8	18	3	12	0	3	1	0	1	3	0	7	1	5	1	2	1	1	0	2	1	4	7			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:47704494C>G	ENST00000397708.1	-	2	961	c.707G>C	c.(706-708)aGa>aCa	p.R236T	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R236T			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	236					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTTAGGTCCTCTCTTCTCTTC	0.393													22	67					0	0	0	0	G	47704494	C	G	47704494	3	3	16	1	0	0	0	0	1	0	0	0	9457	913	32	2	5347	2	MCM3AP	21	47704494	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	6198591	47704494	425401	491	3829											
MCM3AP	8888	broad.mit.edu	37	chr21	47704507	47704507	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtcctctcttctcttcctCtacattttggtttgacaaag	7	17	6	11	0	3	1	0	1	3	0	7	1	5	1	2	2	1	1	2	2	2	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:47704507C>G	ENST00000397708.1	-	2	948	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E232Q			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	232					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTCTCTTCCTCTACATTTTGG	0.388													21	61					0	0	0	0	G	47704507	C	G	47704507	3	3	16	1	0	0	0	0	1	0	0	0	9457	922	32	2	5360	2	MCM3AP	21	47704507	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	13	47704507	425388	492	3830											
PCNT	5116	broad.mit.edu	37	chr21	47821563	47821563	+	Frame_Shift_Del	DEL	G	G	-																															agatgtcccgagcctccttcGggcagccctcctgagggtcc																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:47821563delG	ENST00000359568.5	+	26	4997	c.4890delG	c.(4888-4890)tcfs	p.S1630fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1630					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCCTCCTTCGGGCAGCCCTC	0.562													39	70	---	---	---	---					-	47821563	G	-	47821563	7	5	16	1	0	1	0	1	0	0	0	0	11661	1103	39	0	4992	0	PCNT	21	47821563	Frame_Shift_Del	DEL	G	TCGA-BA-6869-01A-11D-1870-08	117056	47821563	308332	493	3831											
OR11H1	81061	broad.mit.edu	37	chr22	16449523	16449523	+	Frame_Shift_Del	DEL	G	G	-																															aggaagttgaccaacatcttGggaactgtagaagagacata																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:16449523delG	ENST00000252835.4	-	1	282	c.282delC	c.(280-282)ccfs	p.P94fs		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		CCAACATCTTGGGAACTGTAG	0.408													8	57	---	---	---	---					-	16449523	G	-	16449523	7	5	16	1	0	1	0	1	0	0	0	0	10997	1335	47	0	700	0	OR11H1	22	16449523	Frame_Shift_Del	DEL	G	TCGA-BA-6869-01A-11D-1870-08		16449523	34855043	494	3832											
ZNF280B	140883	broad.mit.edu	37	chr22	22843555	22843555	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgttcaaaatgtttgaaaCgactggttttgaatttgaag	12	16	9	4	1	2	3	1	3	1	0	2	4	2	3	0	1	1	3	0	1	5	5			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:22843555C>G	ENST00000360412.2	-	4	944	c.169G>C	c.(169-171)Gtt>Ctt	p.V57L	ZNF280B_ENST00000406426.1_Missense_Mutation_p.V57L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATGTTTGAAACGACTGGTTTT	0.408													30	56					0	0	0	0	G	22843555	C	G	22843555	3	3	16	1	0	0	0	0	1	0	0	0	17910	536	19	3	1466	3	ZNF280B	22	22843555	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	6394032	22843555	28461011	495	3833											
GNAZ	2781	broad.mit.edu	37	chr22	23465617	23465617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagtacattggcctttgctGaggagctgggcccggggccc	6	8	15	12	1	0	1	0	1	0	0	0	2	0	2	3	5	3	3	3	5	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:23465617G>A	ENST00000248996.4	+	3	1733	c.1067G>A	c.(1066-1068)tGa>tAa	p.*356*	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	0						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GGCCTTTGCTGAGGAGCTGGG	0.587													6	4					0	0	0	0	A	23465617	G	A	23465617	2	1	16	1	0	0	0	0	0	0	0	1	6565	1285	45	2		2	GNAZ	22	23465617	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	622062	23465617	27838949	496	3834											
SUSD2	56241	broad.mit.edu	37	chr22	24584279	24584279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctatgtgctgctgcgcCgcaggaagggcaacacgtga	8	8	14	11	4	1	1	0	1	1	0	2	2	1	2	1	2	4	4	1	2	3	1	rs150371467		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:24584279C>A	ENST00000358321.3	+	14	2689	c.2428C>A	c.(2428-2430)Cgc>Agc	p.R810S		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	810					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCTGCTGCGCCGCAGGAAGGG	0.657													8	20					0.00621372	0.00637304	1	0	A	24584279	C	A	24584279	3	1	16	1	0	0	0	0	1	0	0	0	15498	652	23	3	2482	3	SUSD2	22	24584279	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	1118662	24584279	26720287	497	3835											
GGT5	2687	broad.mit.edu	37	chr22	24622662	24622662	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccccttggcaaacttgagCgtctctacaaggtggtggta	8	11	12	10	1	1	1	0	1	1	0	2	1	1	1	2	4	4	2	2	4	4	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:24622662C>G	ENST00000327365.4	-	7	1391	c.975G>C	c.(973-975)acG>acC	p.T325T	GGT5_ENST00000263112.7_Silent_p.T293T|GGT5_ENST00000398292.3_Silent_p.T325T|GGT5_ENST00000418439.2_Silent_p.T248T	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	325					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.T325T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CAAACTTGAGCGTCTCTACAA	0.612													21	61					0	0	0	0	G	24622662	C	G	24622662	2	3	16	1	0	0	0	0	0	0	0	1	6413	755	27	3		3	GGT5	22	24622662	Silent	SNP	C	TCGA-BA-6869-01A-11D-1870-08	38383	24622662	26681904	498	3836											
CRYBB1	1414	broad.mit.edu	37	chr22	26995525	26995525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttgtcacgcaggcgacGcagggactgcatctgtggct	6	9	14	12	3	2	0	1	0	1	0	2	2	2	1	0	3	2	5	0	3	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:26995525G>T	ENST00000215939.2	-	6	818	c.688C>A	c.(688-690)Cgt>Agt	p.R230S		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	230	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CGCAGGCGACGCAGGGACTGC	0.627													21	45					8.10497e-08	9.21347e-08	1	0	T	26995525	G	T	26995525	3	4	16	1	0	0	0	0	1	0	0	0	3940	1087	38	3	74	3	CRYBB1	22	26995525	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2372863	26995525	24309041	499	3837											
RFPL1	5988	broad.mit.edu	37	chr22	29835041	29835041	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttccatggtctctcagaaGaacaaaatcaggcccagttg	12	10	9	10	0	3	2	2	0	1	2	5	2	4	2	2	2	1	2	2	2	4	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:29835041G>A	ENST00000354373.2	+	1	470	c.261G>A	c.(259-261)aaG>aaA	p.K87K	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	87							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCTCTCAGAAGAACAAAATCA	0.517													28	70					0	0	0	0	A	29835041	G	A	29835041	2	1	16	1	0	0	0	0	0	0	0	1	13335	933	33	2		2	RFPL1	22	29835041	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2839516	29835041	21469525	500	3838											
DUSP18	150290	broad.mit.edu	37	chr22	31059931	31059931	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcttttggttatctgcgaGaggccgctgactgagggctg	6	11	16	8	2	1	3	0	2	1	1	1	4	1	3	1	4	1	4	1	4	1	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:31059931G>C	ENST00000403268.1	-	2	530	c.60C>G	c.(58-60)ctC>ctG	p.L20L	DUSP18_ENST00000404885.1_Silent_p.L20L|DUSP18_ENST00000407308.1_Silent_p.L20L|DUSP18_ENST00000334679.3_Silent_p.L20L|DUSP18_ENST00000461301.1_Intron			Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	20						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						TTATCTGCGAGAGGCCGCTGA	0.552													15	40					0	0	0	0	C	31059931	G	C	31059931	2	2	16	1	0	0	0	0	0	0	0	1	4853	929	33	2		2	DUSP18	22	31059931	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	1224890	31059931	20244635	501	3839											
GTSE1	51512	broad.mit.edu	37	chr22	46722418	46722418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catggcgtgtgtcagccttgCccacacccgccagccggcgc	5	6	12	18	4	1	0	1	0	0	0	1	0	1	0	5	2	3	0	5	2	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:46722418C>T	ENST00000454366.1	+	9	1803	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	512					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GTCAGCCTTGCCCACACCCGC	0.652													21	37					0	0	0	0	T	46722418	C	T	46722418	3	4	16	1	0	0	0	0	1	0	0	0	6935	739	26	4	1621	4	GTSE1	22	46722418	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	15662487	46722418	4582148	502	3840											
GLRA2	2742	broad.mit.edu	37	chrX	14627215	14627215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttatagtaattttgtcctGggtttccttttggataaata	9	19	8	5	0	0	0	0	0	0	0	2	1	2	1	2	2	0	3	2	2	6	10			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:14627215G>C	ENST00000218075.4	+	7	1348	c.818G>C	c.(817-819)tGg>tCg	p.W273S	GLRA2_ENST00000355020.4_Missense_Mutation_p.W273S|GLRA2_ENST00000443437.2_Missense_Mutation_p.W184S	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	273					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	ATTTTGTCCTGGGTTTCCTTT	0.473													51	29					0	0	0	0	C	14627215	G	C	14627215	3	2	16	1	0	0	0	0	1	0	0	0	6506	1357	47	4	916	4	GLRA2	23	14627215	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08		14627215	140643345	503	3841											
NHS	4810	broad.mit.edu	37	chrX	17739579	17739579	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccatcccccagaggatGaagatacagatgtcatgtta	13	9	9	10	0	1	4	1	1	0	3	3	5	3	5	3	1	1	1	3	1	3	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:17739579G>T	ENST00000380060.3	+	4	1209	c.871G>T	c.(871-873)Gaa>Taa	p.E291*	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Nonsense_Mutation_p.E135*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	291						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCCAGAGGATGAAGATACAGA	0.433													25	13					4.59853e-10	5.49078e-10	1	0	T	17739579	G	T	17739579	4	4	16	1	0	0	0	0	0	1	0	0	10481	1291	45	2	990	2	NHS	23	17739579	Nonsense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	3112364	17739579	137530981	504	3842											
DMD	1756	broad.mit.edu	37	chrX	32459328	32459328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagatttcctcagctccgCcaggaatgttttcagtggtt	8	13	10	10	1	2	1	2	0	0	1	4	3	4	2	3	2	1	3	3	2	1	4			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:32459328C>G	ENST00000357033.4	-	28	4096	c.3890G>C	c.(3889-3891)gGc>gCc	p.G1297A	DMD_ENST00000378677.2_Missense_Mutation_p.G1293A	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1297					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCAGCTCCGCCAGGAATGTT	0.358													31	21					0	0	0	0	G	32459328	C	G	32459328	3	3	16	1	0	0	0	0	1	0	0	0	4617	739	26	4	7618	4	DMD	23	32459328	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	14719749	32459328	122811232	505	3843											
FAM47B	170062	broad.mit.edu	37	chrX	34962223	34962223	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgtccagtctctgcccGgagcctaccaagaccggagc	7	6	13	15	3	1	1	0	0	1	1	3	3	2	3	5	3	4	0	5	3	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:34962223G>T	ENST00000329357.5	+	1	1311	c.1275G>T	c.(1273-1275)ccG>ccT	p.P425P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	425								p.P425P(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCTCTGCCCGGAGCCTACCA	0.547													31	10					3.80469e-20	5.3166e-20	1	0	T	34962223	G	T	34962223	2	4	16	1	0	0	0	0	0	0	0	1	5617	1103	39	3		3	FAM47B	23	34962223	Silent	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2502895	34962223	120308337	506	3844											
DGKK	139189	broad.mit.edu	37	chrX	50163498	50163498	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgatttttcgttgtggtGtaataacctaaacaaaaagc	14	13	9	5	1	0	1	0	1	0	0	1	2	0	1	1	1	3	2	1	1	6	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:50163498G>T	ENST00000376025.2	-	0	904							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGTTGTGGTGTAATAACCTA	0.388													39	21					2.59497e-14	3.39628e-14	1	0	T	50163498	G	T	50163498	1	4	16	0	1	0	0	0	0	0	0	0	4509	1377	48	4		4	DGKK	23	50163498	RNA	SNP	G	TCGA-BA-6869-01A-11D-1870-08	15201275	50163498	105107062	507	3845											
TRO	7216	broad.mit.edu	37	chrX	54957428	54957428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtggagccgccagtcttgGtgcctgtggcttctcgtatg	4	12	14	11	2	2	0	0	0	2	0	3	1	2	1	3	3	2	2	3	3	1	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:54957428G>T	ENST00000173898.7	+	12	4383	c.4271G>T	c.(4270-4272)gGt>gTt	p.G1424V	TRO_ENST00000420798.2_Missense_Mutation_p.G955V|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G1027V|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1424	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCCAGTCTTGGTGCCTGTGGC	0.567													9	11					1.11149e-13	1.43708e-13	1	0	T	54957428	G	T	54957428	3	4	16	1	0	0	0	0	1	0	0	0	16669	1261	44	4	4313	4	TRO	23	54957428	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	4793930	54957428	100313132	508	3846											
KIAA2022	340533	broad.mit.edu	37	chrX	73962264	73962265	+	Frame_Shift_Ins	INS	-	-	A																															actttcctctctggccccttINSaaactctgtgtcttgggctt																										TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:73962264_73962265insA	ENST00000373468.1	-	3	2778_2779	c.2127_2128insT	c.(2125-2130)ttagggfs	p.LG709fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.LG709fs			Q5QGS0	K2022_HUMAN	KIAA2022	709					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTGGCCCCTTAAACTCTGTGT	0.431													39	26	---	---	---	---					A	73962265	-	A	73962264	7	5	16	1	0	1	1	0	0	0	0	0	8320	1763	61	0	2430	0	KIAA2022	23	73962264	Frame_Shift_Ins	INS	-	TCGA-BA-6869-01A-11D-1870-08	19004836	73962264	81308296	509	3847											
BRWD3	254065	broad.mit.edu	37	chrX	79932626	79932626	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctacgtaatcttgatctgTtctggaagttgattcagagt	10	16	9	6	1	5	3	1	2	4	1	5	4	5	4	0	1	1	3	0	1	3	6			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:79932626T>A	ENST00000373275.4	-	41	5107	c.4891A>T	c.(4891-4893)Aca>Tca	p.T1631S		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1631										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTTGATCTGTTCTGGAAGTT	0.383													47	36					0	0	0	0	A	79932626	T	A	79932626	3	1	16	1	0	0	0	0	1	0	0	0	1534	1725	60	5	521	5	BRWD3	23	79932626	Missense_Mutation	SNP	T	TCGA-BA-6869-01A-11D-1870-08	5970362	79932626	75337934	510	3848											
PABPC5	140886	broad.mit.edu	37	chrX	90690743	90690743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgtgatccggtgacccGcagccccctgggctatgggt	4	8	14	15	3	0	2	0	2	0	0	1	2	1	2	5	3	2	2	5	3	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:90690743G>T	ENST00000312600.3	+	2	381	c.167G>T	c.(166-168)cGc>cTc	p.R56L	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	56	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CCGGTGACCCGCAGCCCCCTG	0.532													9	5					5.68852e-11	7.00126e-11	1	0	T	90690743	G	T	90690743	3	4	16	1	0	0	0	0	1	0	0	0	11438	1087	38	3	169	3	PABPC5	23	90690743	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	10758117	90690743	64579817	511	3849											
PCDH11X	27328	broad.mit.edu	37	chrX	91132611	91132611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctcttcatcaaagtgaaaGatgaaaatgacaatgctcca	16	10	7	8	0	3	4	2	3	1	1	4	4	4	4	1	0	2	2	1	0	5	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:91132611G>C	ENST00000373094.1	+	2	2217	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	PCDH11X_ENST00000395337.2_Missense_Mutation_p.D458H|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D458H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D458H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D458H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	458	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAAAGTGAAAGATGAAAATGA	0.403													27	12					0	0	0	0	C	91132611	G	C	91132611	3	2	16	1	0	0	0	0	1	0	0	0	11579	942	33	2	1378	2	PCDH11X	23	91132611	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	441868	91132611	64137949	512	3850											
NXF3	56000	broad.mit.edu	37	chrX	102332651	102332651	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggtatcccgcacaaagAgcttgtcattcacgatgcac	10	9	10	12	2	2	1	2	0	0	1	3	2	3	1	1	2	2	5	1	2	2	3			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:102332651A>T	ENST00000395065.3	-	18	1576	c.1475T>A	c.(1474-1476)cTc>cAc	p.L492H	NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000425644.1_Missense_Mutation_p.L164H	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	492	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCGCACAAAGAGCTTGTCATT	0.572													42	22					0	0	0	0	T	102332651	A	T	102332651	3	4	16	1	0	0	0	0	1	0	0	0	10856	304	11	5	128	5	NXF3	23	102332651	Missense_Mutation	SNP	A	TCGA-BA-6869-01A-11D-1870-08	11200040	102332651	52937909	513	3851											
TEX13A	56157	broad.mit.edu	37	chrX	104464879	104464879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaaggccaggctgccccagGtgcaggcctctttgacctca	7	7	11	16	0	2	1	1	1	1	0	2	1	2	1	6	4	2	2	6	4	1	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:104464879G>A	ENST00000372578.3	-	2	314	c.203C>T	c.(202-204)aCc>aTc	p.T68I	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.T68I|TEX13A_ENST00000413579.1_Missense_Mutation_p.T68I|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	68						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCTGCCCCAGGTGCAGGCCTC	0.582													16	11					0	0	0	0	A	104464879	G	A	104464879	3	1	16	1	0	0	0	0	1	0	0	0	15870	1261	44	4	1036	4	TEX13A	23	104464879	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	2132228	104464879	50805681	514	3852											
NRK	203447	broad.mit.edu	37	chrX	105132386	105132386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcatttttcaagctgagtCcccctggtcagcggcaccaa	9	9	10	13	1	2	1	2	1	0	0	3	2	3	1	3	2	3	3	3	2	2	2			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:105132386C>A	ENST00000428173.2	+	5	655	c.352C>A	c.(352-354)Ccc>Acc	p.P118T	NRK_ENST00000243300.9_Missense_Mutation_p.P118T|NRK_ENST00000536164.1_Missense_Mutation_p.P118T			Q7Z2Y5	NRK_HUMAN	Nik related kinase	118	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAAGCTGAGTCCCCCTGGTCA	0.398										HNSCC(51;0.14)			5	2					5.9392e-07	6.64526e-07	1	0	A	105132386	C	A	105132386	3	1	16	1	0	0	0	0	1	0	0	0	10726	855	30	2	370	2	NRK	23	105132386	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	667507	105132386	50138174	515	3853											
BCORL1	63035	broad.mit.edu	37	chrX	129184758	129184758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctgggatttttacagcaGttctgtgttgggtaagtttt	7	18	11	5	0	1	0	0	0	1	0	2	1	2	1	1	2	2	5	1	2	2	8			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:129184758G>T	ENST00000540052.1	+	10	4729	c.4685G>T	c.(4684-4686)aGt>aTt	p.S1562I	BCORL1_ENST00000303743.5_Missense_Mutation_p.S1636I|BCORL1_ENST00000218147.7_Missense_Mutation_p.S1562I|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1432I	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1562					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTTTACAGCAGTTCTGTGTTG	0.502													61	39					8.33888e-18	1.14525e-17	1	0	T	129184758	G	T	129184758	3	4	16	1	0	0	0	0	1	0	0	0	1391	1029	36	4	4949	4	BCORL1	23	129184758	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	24052372	129184758	26085802	516	3854											
GPR101	83550	broad.mit.edu	37	chrX	136112905	136112905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccgtcgctggccaccgtgCtgctctctctgacctcctcg	2	11	10	18	4	2	1	0	1	2	0	6	1	3	1	5	1	3	3	5	1	0	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:136112905C>T	ENST00000298110.1	-	1	928	c.929G>A	c.(928-930)aGc>aAc	p.S310N		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	310						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGCCACCGTGCTGCTCTCTCT	0.602													72	51					0	0	0	0	T	136112905	C	T	136112905	3	4	16	1	0	0	0	0	1	0	0	0	6671	797	28	4	600	4	GPR101	23	136112905	Missense_Mutation	SNP	C	TCGA-BA-6869-01A-11D-1870-08	6928147	136112905	19157655	517	3855											
MAGEC1	9947	broad.mit.edu	37	chrX	140993368	140993368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcctcagagtcgttctgagGgggaggactcctcggatcct	6	10	14	11	2	2	2	1	1	1	1	7	5	5	5	3	4	0	1	3	4	0	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:140993368G>T	ENST00000285879.4	+	4	464	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	60							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTTCTGAGGGGGAGGACTC	0.602										HNSCC(15;0.026)			42	31					4.67007e-22	6.65666e-22	1	0	T	140993368	G	T	140993368	3	4	16	1	0	0	0	0	1	0	0	0	9249	1232	43	4	184	4	MAGEC1	23	140993368	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	4880463	140993368	14277192	518	3856											
PLXNA3	55558	broad.mit.edu	37	chrX	153689091	153689091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgcaagctcatcagtgatGaagacagcgcggacatgttc	11	7	11	12	3	2	3	2	2	0	1	3	4	2	4	1	1	2	3	1	1	2	1			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:153689091G>A	ENST00000369682.3	+	2	743	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	190	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.E190K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCAGTGATGAAGACAGCGC	0.597													29	18					0	0	0	0	A	153689091	G	A	153689091	3	1	16	1	0	0	0	0	1	0	0	0	12193	1291	45	2	570	2	PLXNA3	23	153689091	Missense_Mutation	SNP	G	TCGA-BA-6869-01A-11D-1870-08	12695723	153689091	1581469	519	3857											
PLXNA3	55558	broad.mit.edu	37	chrX	153693211	153693211	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggtccacagccctgaGgtgaggcgggcgccgcatgt	6	5	18	12	3	0	2	0	2	0	0	1	2	1	2	3	5	1	2	3	5	0	0			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:153693211G>A	ENST00000369682.3	+	10	2218	c.2043_splice	c.e10+1	p.E681_splice		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	681					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACAGCCCTGAGGTGAGGCGGG	0.662													3	2					0	0	0	0	A	153693211	G	A	153693211	5	1	16	1	0	0	0	0	0	0	1	0	12193	1014	35	4	2077	4	PLXNA3	23	153693211	Splice_Site	SNP	G	TCGA-BA-6869-01A-11D-1870-08	4120	153693211	1577349	520	3858											
ZMYM6	9204	broad.mit.edu	37	chr1	35453123	35453123	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccttccaggtgctcaaaaAtaatccttgtgatgtctgtc	9	14	8	10	0	2	1	1	1	1	0	6	1	5	1	3	1	1	1	3	1	3	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:35453123A>C	ENST00000357182.4	-	16	3787	c.3560T>G	c.(3559-3561)aTt>aGt	p.I1187S	ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1187					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTGCTCAAAAATAATCCTTGT	0.383													9	63					0	0	0	0	C	35453123	A	C	35453123	3	2	17	1	0	0	0	0	1	0	0	0	17799	101	4	5	421	5	ZMYM6	1	35453123	Missense_Mutation	SNP	A	TCGA-BA-6870-01A-11D-1870-08		35453123	213797498	1	3859											
RLF	6018	broad.mit.edu	37	chr1	40703347	40703347	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaaaaagataaagacgaaAgatctgtttccctctttggg	14	10	8	9	1	2	3	0	0	2	3	3	4	3	3	2	1	0	1	2	1	5	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:40703347A>G	ENST00000372771.4	+	8	3000	c.2973A>G	c.(2971-2973)aaA>aaG	p.K991K		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	991					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TAAAGACGAAAGATCTGTTTC	0.408													14	43					0	0	0	0	G	40703347	A	G	40703347	2	3	17	1	0	0	0	0	0	0	0	1	13474	69	3	5		5	RLF	1	40703347	Silent	SNP	A	TCGA-BA-6870-01A-11D-1870-08	5250224	40703347	208547274	2	3860											
ERMAP	114625	broad.mit.edu	37	chr1	43305715	43305715	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctttagagaaactccggAgtgaactgagtaagtttccc	12	12	9	8	1	1	3	0	2	1	1	3	5	3	4	2	1	2	2	2	1	4	5			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:43305715A>T	ENST00000328249.3	+	6	1417	c.379A>T	c.(379-381)Agt>Tgt	p.S127C	RP11-342M1.2_ENST00000416809.2_RNA|RP11-342M1.4_ENST00000414798.1_RNA|ERMAP_ENST00000487556.1_3'UTR|ERMAP_ENST00000372517.2_Missense_Mutation_p.S217C|ERMAP_ENST00000372514.3_Missense_Mutation_p.S217C			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	217	Ig-like V-type.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAAACTCCGGAGTGAACTGAG	0.438													45	129					0	0	0	0	T	43305715	A	T	43305715	3	4	17	1	0	0	0	0	1	0	0	0	5272	304	11	5	675	5	ERMAP	1	43305715	Missense_Mutation	SNP	A	TCGA-BA-6870-01A-11D-1870-08	2602368	43305715	205944906	3	3861											
CYP4A22	284541	broad.mit.edu	37	chr1	47609524	47609535	+	In_Frame_Del	DEL	CTACAGCCTGAC	CTACAGCCTGAC	-																															tttcatgagaatgacaccatCtacagcctgacctctgctgg																										TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:47609524_47609535delCTACAGCCTGAC	ENST00000371891.3	+	6	757_768	c.726_737delCTACAGCCTGAC	c.(724-738)atc>at	p.IYSLT242del	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_In_Frame_Del_p.IYSLT242del|CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	242						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGACACCATCTACAGCCTGACCTCTGCTGGC	0.542													7	145	---	---	---	---					-	47609535	CTACAGCCTGAC	-	47609524	7	5	17	1	0	1	0	1	0	0	0	0	4216	903	32	0	748	0	CYP4A22	1	47609524	In_Frame_Del	DEL	CTACAGCCTGAC	TCGA-BA-6870-01A-11D-1870-08	4303809	47609524	201641097	4	3862											
ANKRD13C	81573	broad.mit.edu	37	chr1	70758091	70758091	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaattctgttccattaTgtttccacctttactcaaac	11	16	2	12	0	3	0	2	0	1	0	5	0	5	0	3	0	2	2	3	0	5	6			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:70758091T>G	ENST00000370944.4	-	9	1508	c.1195A>C	c.(1195-1197)Ata>Cta	p.I399L	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.I364L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	399					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TGTTCCATTATGTTTCCACCT	0.338													15	57					0	0	0	0	G	70758091	T	G	70758091	3	3	17	1	0	0	0	0	1	0	0	0	643	1464	51	5	450	5	ANKRD13C	1	70758091	Missense_Mutation	SNP	T	TCGA-BA-6870-01A-11D-1870-08	23148567	70758091	178492530	5	3863											
CASQ2	845	broad.mit.edu	37	chr1	116280931	116280931	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttccagtttgctgctgAtgatctccactgggtcttca	6	14	10	11	0	3	2	1	2	2	0	5	3	4	3	2	2	2	3	2	2	0	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:116280931A>C	ENST00000261448.5	-	4	685	c.446T>G	c.(445-447)aTc>aGc	p.I149S	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	149					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTTGCTGCTGATGATCTCCAC	0.443													47	121					0	0	0	0	C	116280931	A	C	116280931	3	2	17	1	0	0	0	0	1	0	0	0	2706	333	12	5	785	5	CASQ2	1	116280931	Missense_Mutation	SNP	A	TCGA-BA-6870-01A-11D-1870-08	45522840	116280931	132969690	6	3864											
NOTCH2	4853	broad.mit.edu	37	chr1	120502074	120502074	+	Frame_Shift_Del	DEL	T	T	-																															tgccatccatacagattccaTggatacaagggttacttgca																										TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:120502074delT	ENST00000256646.2	-	12	2186	c.1967delA	c.(1966-1968)ctfs	p.H656fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	656	EGF-like 17; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		ACAGATTCCATGGATACAAGG	0.428			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				15	74	---	---	---	---					-	120502074	T	-	120502074	7	5	17	1	0	1	0	1	0	0	0	0	10618	1464	51	0	5540	0	NOTCH2	1	120502074	Frame_Shift_Del	DEL	T	TCGA-BA-6870-01A-11D-1870-08	4221143	120502074	128748547	7	3865											
ZNF687	57592	broad.mit.edu	37	chr1	151259824	151259824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taactcaggtcccctcagatCctgatccacctgcccccttg	7	10	6	18	0	2	2	2	1	0	1	5	2	5	2	7	1	2	0	7	1	1	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:151259824C>T	ENST00000368879.2	+	2	1155	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCCTCAGATCCTGATCCACC	0.562													29	65					0	0	0	0	T	151259824	C	T	151259824	3	4	17	1	0	0	0	0	1	0	0	0	18187	855	30	2	1059	2	ZNF687	1	151259824	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	30757750	151259824	97990797	8	3866											
ADAM15	8751	broad.mit.edu	37	chr1	155034393	155034393	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaggctgagctggctgAccgacccaatccccctaccc	7	8	9	17	1	1	2	1	2	0	0	2	3	2	2	5	2	2	4	5	2	2	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:155034393A>G	ENST00000356955.2	+	21	2467	c.2366A>G	c.(2365-2367)gAc>gGc	p.D789G	ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000359280.4_Missense_Mutation_p.D764G|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Intron|ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.D788G	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	789					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAGCTGGCTGACCGACCCAAT	0.642											OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	145					0	0	0	0	G	155034393	A	G	155034393	3	3	17	1	0	0	0	0	1	0	0	0	237	275	10	5	2448	5	ADAM15	1	155034393	Missense_Mutation	SNP	A	TCGA-BA-6870-01A-11D-1870-08	3774569	155034393	94216228	9	3867											
BCAN	63827	broad.mit.edu	37	chr1	156618415	156618415	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattggaggaagcacgggcGtactgccaggagcggggtgc	9	5	18	9	3	0	0	0	0	0	0	0	3	0	3	1	6	5	2	1	6	2	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:156618415G>A	ENST00000329117.4	+	6	1161	c.825G>A	c.(823-825)gcG>gcA	p.A275A	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.A275A	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	275	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACGGGCGTACTGCCAGG	0.612													24	126					0	0	0	0	A	156618415	G	A	156618415	2	1	17	1	0	0	0	0	0	0	0	1	1349	1132	40	1		1	BCAN	1	156618415	Silent	SNP	G	TCGA-BA-6870-01A-11D-1870-08	1584022	156618415	92632206	10	3868											
CFH	3075	broad.mit.edu	37	chr1	196658702	196658702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagttactgggatcacattCattgcacacaagatggatgg	13	10	11	7	0	2	1	2	0	0	1	2	4	2	3	0	3	2	2	0	3	3	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:196658702C>T	ENST00000367429.4	+	8	1357	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	CFH_ENST00000359637.2_Missense_Mutation_p.H309Y|CFH_ENST00000439155.2_Missense_Mutation_p.H373Y	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	373	Sushi 6.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGATCACATTCATTGCACACA	0.393													9	130					0	0	0	0	T	196658702	C	T	196658702	3	4	17	1	0	0	0	0	1	0	0	0	3312	826	29	2	1147	2	CFH	1	196658702	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	40040287	196658702	52591919	11	3869											
URB2	9816	broad.mit.edu	37	chr1	229773396	229773396	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagctaatgcagatgctCatccaaatgaagctgagctt	13	9	11	8	0	1	3	1	2	0	1	2	5	2	4	1	1	5	5	1	1	3	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:229773396C>A	ENST00000258243.2	+	4	3172	c.3036C>A	c.(3034-3036)ctC>ctA	p.L1012L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1012						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGCAGATGCTCATCCAAATGA	0.448													26	49					1.64293e-13	2.00494e-13	1	0	A	229773396	C	A	229773396	2	1	17	1	0	0	0	0	0	0	0	1	17121	813	29	2		2	URB2	1	229773396	Silent	SNP	C	TCGA-BA-6870-01A-11D-1870-08	33114694	229773396	19477225	12	3870											
OR2C3	81472	broad.mit.edu	37	chr1	247695697	247695697	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atgatgccattgcccaagatCgataccatgtaaaaactcaa	16	9	6	10	1	1	2	1	1	0	1	2	3	1	2	3	0	4	1	3	0	6	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:247695697C>G	ENST00000366487.3	-	2	478	c.117G>C	c.(115-117)tcG>tcC	p.S39S	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGCCCAAGATCGATACCATGT	0.473													25	109					0	0	0	0	G	247695697	C	G	247695697	2	3	17	1	0	0	0	0	0	0	0	1	11064	871	31	3		3	OR2C3	1	247695697	Silent	SNP	C	TCGA-BA-6870-01A-11D-1870-08	17922301	247695697	1554924	13	3871											
HADHA	3030	broad.mit.edu	37	chr2	26415267	26415267	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacaccctcctgatagaTgtaaaagcccttcccagatt	11	11	5	14	0	1	3	1	1	0	2	3	3	3	3	4	0	1	1	4	0	3	5			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:26415267T>C	ENST00000380649.3	-	18	2041	c.1912A>G	c.(1912-1914)Atc>Gtc	p.I638V		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	638					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TCCTGATAGATGTAAAAGCCC	0.428													15	49					0	0	0	0	C	26415267	T	C	26415267	3	2	17	1	0	0	0	0	1	0	0	0	6993	1464	51	5	391	5	HADHA	2	26415267	Missense_Mutation	SNP	T	TCGA-BA-6870-01A-11D-1870-08		26415267	216784106	14	3872											
CCDC88A	55704	broad.mit.edu	37	chr2	55573405	55573405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgactctgactgctttctctCgaagtgcatctaattcatct	8	15	6	12	2	5	1	1	1	4	0	7	3	5	1	0	0	2	2	0	0	2	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:55573405C>T	ENST00000436346.1	-	10	1788	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	CCDC88A_ENST00000413716.2_Missense_Mutation_p.R316Q|CCDC88A_ENST00000263630.8_Missense_Mutation_p.R316Q|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R316Q	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	316					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGCTTTCTCTCGAAGTGCATC	0.333													30	93					0	0	0	0	T	55573405	C	T	55573405	3	4	17	1	0	0	0	0	1	0	0	0	2890	884	31	1	4760	1	CCDC88A	2	55573405	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	29158138	55573405	187625968	15	3873											
MERTK	10461	broad.mit.edu	37	chr2	112732906	112732906	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtaatggctcagtcatgaTttttaacacctctgccttac	10	14	7	10	0	3	1	2	1	1	0	3	2	3	1	2	1	3	2	2	1	3	5			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:112732906T>C	ENST00000295408.4	+	7	1258	c.1001T>C	c.(1000-1002)aTt>aCt	p.I334T	MERTK_ENST00000409780.1_Missense_Mutation_p.I158T|MERTK_ENST00000421804.2_Missense_Mutation_p.I334T			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	334	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TCAGTCATGATTTTTAACACC	0.473													54	166					0	0	0	0	C	112732906	T	C	112732906	3	2	17	1	0	0	0	0	1	0	0	0	9548	1493	52	5	1027	5	MERTK	2	112732906	Missense_Mutation	SNP	T	TCGA-BA-6870-01A-11D-1870-08	57159501	112732906	130466467	16	3874											
MYO7B	4648	broad.mit.edu	37	chr2	128390861	128390861	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaagcagcccccgcacCaggtggaggtggaggccgca	8	2	16	15	3	0	0	0	0	0	0	0	3	0	3	5	6	2	3	5	6	1	0			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:128390861C>A	ENST00000389524.4	+	39	5412	c.5359C>A	c.(5359-5361)Cag>Aag	p.Q1787K	MYO7B_ENST00000409090.1_Missense_Mutation_p.Q639K|MYO7B_ENST00000409816.2_Missense_Mutation_p.Q1786K|MYO7B_ENST00000428314.1_Missense_Mutation_p.Q1786K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1786	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCCCCGCACCAGGTGGAGGT	0.667													4	24					0.000602214	0.000667068	1	0	A	128390861	C	A	128390861	3	1	17	1	0	0	0	0	1	0	0	0	10153	595	21	4	5506	4	MYO7B	2	128390861	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	15657955	128390861	114808512	17	3875											
LRP1B	53353	broad.mit.edu	37	chr2	141457953	141457953	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagccaaggctatgacattcTtgaaataacgtggattctca	14	11	8	8	1	2	2	1	2	2	0	3	3	2	3	1	2	2	1	1	2	5	5			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:141457953T>C	ENST00000389484.3	-	41	7636	c.6665A>G	c.(6664-6666)aAg>aGg	p.K2222R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2222					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATGACATTCTTGAAATAACG	0.318										TSP Lung(27;0.18)			35	143					0	0	0	0	C	141457953	T	C	141457953	3	2	17	1	0	0	0	0	1	0	0	0	9019	1609	56	5	7338	5	LRP1B	2	141457953	Missense_Mutation	SNP	T	TCGA-BA-6870-01A-11D-1870-08	13067092	141457953	101741420	18	3876											
ASNSD1	54529	broad.mit.edu	37	chr2	190532561	190532561	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgtgtccgctttcagtcGcatgggctggaaggattgaa	8	11	13	9	3	1	1	1	1	0	0	4	3	2	3	1	3	0	3	1	3	2	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:190532561G>A	ENST00000260952.4	+	5	1949	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	ASNSD1_ENST00000607062.1_Silent_p.S31S	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	512	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GCTTTCAGTCGCATGGGCTGG	0.413													4	142					0	0	0	0	A	190532561	G	A	190532561	2	1	17	1	0	0	0	0	0	0	0	1	1053	1074	38	1		1	ASNSD1	2	190532561	Silent	SNP	G	TCGA-BA-6870-01A-11D-1870-08	49074608	190532561	52666812	19	3877											
PTPN23	25930	broad.mit.edu	37	chr3	47450918	47450918	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcagaagttgttcgaGgagcagctgaaaaagtatga	13	10	11	7	1	1	3	1	2	0	1	3	5	2	4	1	1	2	5	1	1	4	4			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr3:47450918G>A	ENST00000265562.4	+	18	1886	c.1809G>A	c.(1807-1809)gaG>gaA	p.E603E	PTPN23_ENST00000431726.1_Silent_p.E477E	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	603					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTTGTTCGAGGAGCAGCTGA	0.622													3	39					0	0	0	0	A	47450918	G	A	47450918	2	1	17	1	0	0	0	0	0	0	0	1	12870	991	35	4		4	PTPN23	3	47450918	Silent	SNP	G	TCGA-BA-6870-01A-11D-1870-08		47450918	150571512	20	3878											
OR5H1	26341	broad.mit.edu	37	chr3	97852161	97852161	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttctcaggttcaattcAggtattcagcattgtgacta	10	17	7	7	0	4	1	4	1	1	0	5	1	4	1	0	2	1	3	0	2	4	9			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr3:97852161A>G	ENST00000354565.2	+	1	620	c.620A>G	c.(619-621)cAg>cGg	p.Q207R	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GGTTCAATTCAGGTATTCAGC	0.318													3	83					0	0	0	0	G	97852161	A	G	97852161	3	3	17	1	0	0	0	0	1	0	0	0	11230	188	7	5	622	5	OR5H1	3	97852161	Missense_Mutation	SNP	A	TCGA-BA-6870-01A-11D-1870-08	50401243	97852161	100170269	21	3879											
TRH	7200	broad.mit.edu	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	18	1	20	2	0	0	4	0	0	0	4	0	12	0	10	0	6	1	1	0	6	4	0			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642													3	78					0	0	0	0	A	129695840	G	A	129695840	2	1	17	1	0	0	0	0	0	0	0	1	16573	991	35	4		4	TRH	3	129695840	Silent	SNP	G	TCGA-BA-6870-01A-11D-1870-08	31843679	129695840	68326590	22	3880											
NCK1	4690	broad.mit.edu	37	chr3	136665013	136665013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtgattacattaggccttCactcactggaaagtttgctg	9	14	10	8	0	2	1	2	1	0	0	2	2	2	2	1	2	2	2	1	2	3	4			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr3:136665013C>T	ENST00000469404.1	+	2	714	c.623C>T	c.(622-624)tCa>tTa	p.S208L	NCK1_ENST00000481752.1_Missense_Mutation_p.S272L|NCK1_ENST00000288986.2_Missense_Mutation_p.S272L	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	272	SH3 3.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						ATTAGGCCTTCACTCACTGGA	0.413													28	161					0	0	0	0	T	136665013	C	T	136665013	3	4	17	1	0	0	0	0	1	0	0	0	10289	838	29	2	821	2	NCK1	3	136665013	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	6969173	136665013	61357417	23	3881											
PACRGL	133015	broad.mit.edu	37	chr4	20706289	20706289	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtttttttccaggtaactAtgatcaaaggacatcatcaa	13	14	6	8	0	3	1	3	1	0	0	4	2	4	2	1	2	1	2	1	2	4	5			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr4:20706289A>G	ENST00000360916.5	+	3	450	c.59A>G	c.(58-60)tAt>tGt	p.Y20C	PACRGL_ENST00000538990.1_Missense_Mutation_p.Y20C|PACRGL_ENST00000507634.1_Missense_Mutation_p.Y20C|PACRGL_ENST00000513459.1_Missense_Mutation_p.Y20C|PACRGL_ENST00000444671.2_Missense_Mutation_p.Y20C|PACRGL_ENST00000295290.8_Missense_Mutation_p.Y20C|PACRGL_ENST00000502374.1_Missense_Mutation_p.Y20C|PACRGL_ENST00000503585.1_Missense_Mutation_p.Y20C|PACRGL_ENST00000502938.1_Missense_Mutation_p.Y20C	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	20							binding			endometrium(2)|lung(7)|prostate(1)	10						CCAGGTAACTATGATCAAAGG	0.403													12	40					0	0	0	0	G	20706289	A	G	20706289	3	3	17	1	0	0	0	0	1	0	0	0	11442	449	16	5	65	5	PACRGL	4	20706289	Missense_Mutation	SNP	A	TCGA-BA-6870-01A-11D-1870-08		20706289	170447987	24	3882											
NDST4	64579	broad.mit.edu	37	chr4	115997541	115997541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttggaaaatagtccagtcttCcccaggaagagggcctttct	10	11	10	10	0	2	1	0	0	2	1	4	3	4	3	4	3	0	0	4	3	4	4			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr4:115997541C>T	ENST00000264363.2	-	2	1330	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	218	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.E218K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTCCAGTCTTCCCCAGGAAGA	0.408													19	62					0	0	0	0	T	115997541	C	T	115997541	3	4	17	1	0	0	0	0	1	0	0	0	10328	864	30	2	2018	2	NDST4	4	115997541	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	95291252	115997541	75156735	25	3883											
TBC1D9	23158	broad.mit.edu	37	chr4	141591978	141591978	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctgcactagaaagtctcTatctttcaagttggcaaata	12	13	6	10	0	4	1	1	0	3	1	5	1	4	1	1	1	1	3	1	1	6	5			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr4:141591978T>C	ENST00000442267.2	-	7	1236	c.1162A>G	c.(1162-1164)Aga>Gga	p.R388G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	388						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGAAAGTCTCTATCTTTCAAG	0.443													49	117					0	0	0	0	C	141591978	T	C	141591978	3	2	17	1	0	0	0	0	1	0	0	0	15721	1530	53	5	2698	5	TBC1D9	4	141591978	Missense_Mutation	SNP	T	TCGA-BA-6870-01A-11D-1870-08	25594437	141591978	49562298	26	3884											
FASTKD3	79072	broad.mit.edu	37	chr5	7859654	7859654	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctcatgataggggatcTgtaaaggtagaaaagtaaaa	18	9	10	4	0	2	2	1	1	2	1	3	3	2	3	0	3	0	3	0	3	9	4			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:7859654T>C	ENST00000264669.5	-	7	2021		c.e7-2		MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Splice_Site	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3						apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATAGGGGATCTGTAAAGGTAG	0.388													20	55					0	0	0	0	C	7859654	T	C	7859654	5	2	17	1	0	0	0	0	0	0	1	0	5732	1594	55	5	109	5	FASTKD3	5	7859654	Splice_Site	SNP	T	TCGA-BA-6870-01A-11D-1870-08		7859654	173055606	27	3885											
CDH9	1007	broad.mit.edu	37	chr5	26915954	26915954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctcctgtattttcatctaTaacaaatagactgccagccc	11	13	5	12	0	3	1	1	0	2	1	4	1	3	1	3	0	3	1	3	0	5	6			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:26915954T>C	ENST00000231021.4	-	3	479	c.307A>G	c.(307-309)Ata>Gta	p.I103V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	103	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTTCATCTATAACAAATAGA	0.378													95	152					0	0	0	0	C	26915954	T	C	26915954	3	2	17	1	0	0	0	0	1	0	0	0	3146	1406	49	5	2102	5	CDH9	5	26915954	Missense_Mutation	SNP	T	TCGA-BA-6870-01A-11D-1870-08	19056300	26915954	153999306	28	3886											
CDH6	1004	broad.mit.edu	37	chr5	31302316	31302316	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggagaaaatgctgaaattGagtacagcatcacagacggt	15	8	12	6	1	1	4	1	2	0	2	1	5	1	4	0	2	3	3	0	2	4	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:31302316G>C	ENST00000265071.2	+	6	1175	c.910G>C	c.(910-912)Gag>Cag	p.E304Q	CDH6_ENST00000514738.1_Missense_Mutation_p.E249Q	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	304	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCTGAAATTGAGTACAGCAT	0.473													11	105					0	0	0	0	C	31302316	G	C	31302316	3	2	17	1	0	0	0	0	1	0	0	0	3143	1291	45	2	928	2	CDH6	5	31302316	Missense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08	4386362	31302316	149612944	29	3887											
GHR	2690	broad.mit.edu	37	chr5	42718796	42718796	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaacctgacattctggAgactgatttcaatgccaatg	11	13	9	8	0	2	4	1	3	1	1	2	5	2	4	2	1	2	0	2	1	3	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:42718796A>G	ENST00000230882.4	+	10	1377	c.1187A>G	c.(1186-1188)gAg>gGg	p.E396G	GHR_ENST00000537449.1_Missense_Mutation_p.E209G|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.E374G	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	396					2-oxoglutarate metabolic process|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|JAK-STAT cascade|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)	GACATTCTGGAGACTGATTTC	0.478													23	96					0	0	0	0	G	42718796	A	G	42718796	3	3	17	1	0	0	0	0	1	0	0	0	6422	304	11	5	1221	5	GHR	5	42718796	Missense_Mutation	SNP	A	TCGA-BA-6870-01A-11D-1870-08	11416480	42718796	138196464	30	3888											
SKIV2L2	23517	broad.mit.edu	37	chr5	54662572	54662572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggctccgctgatcctctaaAtagtgctttccatttgacct	7	14	8	12	1	1	2	0	2	1	0	4	2	4	2	4	1	1	3	4	1	3	4			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:54662572A>G	ENST00000230640.5	+	16	1933	c.1679A>G	c.(1678-1680)aAt>aGt	p.N560S	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.N459S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	560	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GATCCTCTAAATAGTGCTTTC	0.338													31	63					0	0	0	0	G	54662572	A	G	54662572	3	3	17	1	0	0	0	0	1	0	0	0	14448	101	4	5	1741	5	SKIV2L2	5	54662572	Missense_Mutation	SNP	A	TCGA-BA-6870-01A-11D-1870-08	11943776	54662572	126252688	31	3889											
CMYA5	202333	broad.mit.edu	37	chr5	79032587	79032587	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaagtcaagcagagatatgCcagatcacagtgaagaaaaa	21	5	9	6	0	2	4	2	1	0	3	2	5	2	4	1	0	2	1	1	0	7	1			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:79032587C>G	ENST00000446378.2	+	2	8030	c.7999C>G	c.(7999-8001)Cca>Gca	p.P2667A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2667						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGAGATATGCCAGATCACAG	0.403													10	46					0	0	0	0	G	79032587	C	G	79032587	3	3	17	1	0	0	0	0	1	0	0	0	3620	739	26	4	8005	4	CMYA5	5	79032587	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	24370015	79032587	101882673	32	3890											
TCF7	6932	broad.mit.edu	37	chr5	133477960	133477961	+	Frame_Shift_Ins	INS	-	-	GG																															cggccattgtgcccccctcaINSgggaagcaggagctgcagcc																										TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:133477960_133477961insGG	ENST00000395029.1	+	6	915_916	c.720_721insGG	c.(718-723)tcggaafs	p.E241fs	TCF7_ENST00000378560.4_Frame_Shift_Ins_p.E126fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.E241fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.E126fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.E241fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.E241fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.E126fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.E241fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.E126fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.E126fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	241					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCCCCCCTCAGGGAAGCAGGA	0.604													8	81	---	---	---	---					GG	133477961	-	GG	133477960	7	5	17	1	0	1	1	0	0	0	0	0	15790	175	7	0	742	0	TCF7	5	133477960	Frame_Shift_Ins	INS	-	TCGA-BA-6870-01A-11D-1870-08	54445373	133477960	47437300	33	3891											
PCDHA5	56143	broad.mit.edu	37	chr5	140202875	140202875	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgagcgcccgctgtcgagTtacgtttcggtgcacgcgga	5	8	16	12	8	0	0	0	0	0	0	2	3	0	1	1	3	3	4	1	3	1	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:140202875T>C	ENST00000529859.1	+	1	1515	c.1515T>C	c.(1513-1515)agT>agC	p.S505S	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.S505S|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.S505S|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGTCGAGTTACGTTTCGG	0.682													25	86					0	0	0	0	C	140202875	T	C	140202875	2	2	17	1	0	0	0	0	0	0	0	1	11598	1722	60	5		5	PCDHA5	5	140202875	Silent	SNP	T	TCGA-BA-6870-01A-11D-1870-08	6724915	140202875	40712385	34	3892											
PCDHB12	56124	broad.mit.edu	37	chr5	140588971	140588971	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatttagatgtaggaatCaatgctgtaaaaagctacac	17	10	9	5	0	1	1	1	0	0	1	1	3	1	3	0	2	3	4	0	2	9	5			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:140588971C>A	ENST00000239450.2	+	1	681	c.492C>A	c.(490-492)atC>atA	p.I164I	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		164	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGTAGGAATCAATGCTGTAA	0.388													11	64					0.000673444	0.000740274	1	0	A	140588971	C	A	140588971	2	1	17	1	0	0	0	0	0	0	0	1	11608	816	29	2		2	PCDHB12	5	140588971	Silent	SNP	C	TCGA-BA-6870-01A-11D-1870-08	386096	140588971	40326289	35	3893											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755399	140755399	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgccccgctccgcagaGcccggctacctggtgaccaa	6	5	12	18	4	0	2	0	1	0	1	1	2	1	2	6	3	2	3	6	3	2	1			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:140755399G>A	ENST00000517434.1	+	1	1749	c.1749G>A	c.(1747-1749)gaG>gaA	p.E583E	PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCGCAGAGCCCGGCTACC	0.657													53	143					0	0	0	0	A	140755399	G	A	140755399	2	1	17	1	0	0	0	0	0	0	0	1	11629	962	34	4		4	PCDHGA6	5	140755399	Silent	SNP	G	TCGA-BA-6870-01A-11D-1870-08	166428	140755399	40159861	36	3894											
DOCK2	1794	broad.mit.edu	37	chr5	169506012	169506012	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagcatcacccaagacgccGagagtggagcaggaggaacc	13	4	13	11	2	1	2	1	0	0	2	1	6	1	5	3	3	3	2	3	3	3	1			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:169506012G>A	ENST00000256935.8	+	49	5108	c.5028G>A	c.(5026-5028)ccG>ccA	p.P1676P	DOCK2_ENST00000520908.1_Silent_p.P1168P|DOCK2_ENST00000540750.1_Silent_p.P737P|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1676					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAAGACGCCGAGAGTGGAGC	0.547													16	141					0	0	0	0	A	169506012	G	A	169506012	2	1	17	1	0	0	0	0	0	0	0	1	4723	1045	37	1		1	DOCK2	5	169506012	Silent	SNP	G	TCGA-BA-6870-01A-11D-1870-08	28750613	169506012	11409248	37	3895											
TREML2	79865	broad.mit.edu	37	chr6	41166046	41166046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggctcacacttcttcttCctgattttgcaccaaacctt	8	14	4	15	0	3	1	1	1	2	0	4	1	4	1	4	1	2	2	4	1	1	6			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:41166046C>A	ENST00000483722.1	-	2	362	c.177G>T	c.(175-177)agG>agT	p.R59S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	59	Ig-like V-type.			R -> K (in Ref. 3; BAB14668).	T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACTTCTTCTTCCTGATTTTGC	0.552													47	148					6.31075e-24	7.97148e-24	1	0	A	41166046	C	A	41166046	3	1	17	1	0	0	0	0	1	0	0	0	16568	854	30	2	804	2	TREML2	6	41166046	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08		41166046	129949021	38	3896											
OGFRL1	79627	broad.mit.edu	37	chr6	72003291	72003291	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatcttcgtttttataagaAtaaaattccattcaagccag	15	14	4	8	1	2	1	1	0	1	1	4	1	3	1	2	0	1	1	2	0	7	8			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:72003291A>G	ENST00000370435.4	+	3	511	c.377A>G	c.(376-378)aAt>aGt	p.N126S	RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|OGFRL1_ENST00000467503.1_3'UTR	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	126						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TTTTATAAGAATAAAATTCCA	0.299													8	40					0	0	0	0	G	72003291	A	G	72003291	3	3	17	1	0	0	0	0	1	0	0	0	10915	101	4	5	387	5	OGFRL1	6	72003291	Missense_Mutation	SNP	A	TCGA-BA-6870-01A-11D-1870-08	30837245	72003291	99111776	39	3897											
EEF1A1	1915	broad.mit.edu	37	chr6	74229664	74229664	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcgatgccaccgcatttaTagatcagatggccagtagtg	10	11	11	9	2	1	2	1	0	0	2	2	3	1	2	3	1	1	2	3	1	3	4			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:74229664T>C	ENST00000316292.9	-	1	1077	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	EEF1A1_ENST00000309268.6_Missense_Mutation_p.Y29C|EEF1A1_ENST00000331523.2_Missense_Mutation_p.Y29C	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	29						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACCGCATTTATAGATCAGATG	0.418													15	81					0	0	0	0	C	74229664	T	C	74229664	3	2	17	1	0	0	0	0	1	0	0	0	4959	1406	49	5	1330	5	EEF1A1	6	74229664	Missense_Mutation	SNP	T	TCGA-BA-6870-01A-11D-1870-08	2226373	74229664	96885403	40	3898											
MED23	9439	broad.mit.edu	37	chr6	131926435	131926435	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcataggtaagggggtaaTagatcctgaagccatacagt	13	10	12	6	0	1	2	1	1	0	1	2	2	2	2	2	3	2	3	2	3	6	6			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:131926435T>C	ENST00000403834.3	-	14	1749	c.1576A>G	c.(1576-1578)Att>Gtt	p.I526V	MED23_ENST00000540546.1_Missense_Mutation_p.I526V|MED23_ENST00000368058.1_Missense_Mutation_p.I526V|MED23_ENST00000368060.3_Missense_Mutation_p.I520V|MED23_ENST00000545957.1_Missense_Mutation_p.I161V|MED23_ENST00000354577.4_Missense_Mutation_p.I526V|MED23_ENST00000368068.3_Missense_Mutation_p.I520V|MED23_ENST00000539158.1_Intron|MED23_ENST00000368053.4_Missense_Mutation_p.I526V			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	520					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AAGGGGGTAATAGATCCTGAA	0.393													10	47					0	0	0	0	C	131926435	T	C	131926435	3	2	17	1	0	0	0	0	1	0	0	0	9510	1406	49	5	2619	5	MED23	6	131926435	Missense_Mutation	SNP	T	TCGA-BA-6870-01A-11D-1870-08	57696771	131926435	39188632	41	3899											
SBDS	51119	broad.mit.edu	37	chr7	66453484	66453484	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcccgggtcaatcagacaTacctgaaacatttaacgtag	14	8	8	11	2	2	2	2	1	0	1	2	2	2	2	2	1	4	1	2	1	5	4			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:66453484T>C	ENST00000246868.2	-	5	810	c.627A>G	c.(625-627)gtA>gtG	p.V209V		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	209					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						CAATCAGACATACCTGAAACA	0.408			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome				12	47					0	0	0	0	C	66453484	T	C	66453484	2	2	17	1	0	0	0	0	0	0	0	1	13943	1393	49	5		5	SBDS	7	66453484	Silent	SNP	T	TCGA-BA-6870-01A-11D-1870-08		66453484	92685179	42	3900											
COL1A2	1278	broad.mit.edu	37	chr7	94037520	94037520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgggcttcctggtgagaGaggacgtgttggtgcccctg	4	10	17	10	2	0	2	0	1	0	1	1	4	1	3	4	4	1	2	4	4	0	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:94037520G>T	ENST00000297268.6	+	14	1136	c.665G>T	c.(664-666)aGa>aTa	p.R222I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	222					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGGTGAGAGAGGACGTGTT	0.408										HNSCC(75;0.22)			6	76					8.12818e-05	9.14421e-05	1	0	T	94037520	G	T	94037520	3	4	17	1	0	0	0	0	1	0	0	0	3708	942	33	2	719	2	COL1A2	7	94037520	Missense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08	27584036	94037520	65101143	43	3901											
FBXO24	26261	broad.mit.edu	37	chr7	100198322	100198322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccaggaccccggggggAtggcccaggcctgcgaggag	7	2	17	15	2	0	0	0	0	0	0	0	4	0	3	6	7	1	0	6	7	0	0			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:100198322A>G	ENST00000241071.6	+	10	1865	c.1543A>G	c.(1543-1545)Atg>Gtg	p.M515V	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.M553V|FBXO24_ENST00000468962.1_Missense_Mutation_p.M503V|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	515						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGGGGGGATGGCCCAGGC	0.662													3	56					0	0	0	0	G	100198322	A	G	100198322	3	3	17	1	0	0	0	0	1	0	0	0	5780	333	12	5	1738	5	FBXO24	7	100198322	Missense_Mutation	SNP	A	TCGA-BA-6870-01A-11D-1870-08	6160802	100198322	58940341	44	3902											
GNB2	2783	broad.mit.edu	37	chr7	100276221	100276224	+	Frame_Shift_Del	DEL	GAAG	GAAG	-																															tgcaacatctgggatgccatGaagggcgaccgtgcaggtga																										TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:100276221_100276224delGAAG	ENST00000303210.4	+	9	1382_1385	c.900_903delGAAG	c.(898-903)atfs	p.MK300fs	GNB2_ENST00000436220.1_Frame_Shift_Del_p.MK256fs|GNB2_ENST00000393924.1_Frame_Shift_Del_p.MK300fs|GNB2_ENST00000419828.1_Frame_Shift_Del_p.MK200fs|GNB2_ENST00000427895.1_Frame_Shift_Del_p.MK200fs|GNB2_ENST00000393926.1_Frame_Shift_Del_p.MK300fs|GNB2_ENST00000424361.1_Frame_Shift_Del_p.MK256fs	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	300					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GGGATGCCATGAAGGGCGACCGTG	0.608													20	71	---	---	---	---					-	100276224	GAAG	-	100276221	7	5	17	1	0	1	0	1	0	0	0	0	6568	1290	45	0	930	0	GNB2	7	100276221	Frame_Shift_Del	DEL	GAAG	TCGA-BA-6870-01A-11D-1870-08	77899	100276221	58862442	45	3903											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	21	0	6	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	6	0	0	7	0	rs149757187		TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502													3	55					0	0	0	0	G	114269973	A	G	114269973	2	3	17	1	0	0	0	0	0	0	0	1	6074	40	2	5		5	FOXP2	7	114269973	Silent	SNP	A	TCGA-BA-6870-01A-11D-1870-08	13993752	114269973	44868690	46	3904											
CTTNBP2	83992	broad.mit.edu	37	chr7	117450836	117450836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccttcttttgtctgctctCagcagcagccagctgtgcgg	5	13	10	13	1	3	0	1	0	3	0	4	0	3	0	2	1	7	4	2	1	1	4			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:117450836C>T	ENST00000160373.3	-	3	488	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	133										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGTCTGCTCTCAGCAGCAGCC	0.483													39	266					0	0	0	0	T	117450836	C	T	117450836	3	4	17	1	0	0	0	0	1	0	0	0	4077	835	29	2	4678	2	CTTNBP2	7	117450836	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	3180863	117450836	41687827	47	3905											
AKR1B10	57016	broad.mit.edu	37	chr7	134221441	134221441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggggctggtgaaagccCttggggtctccaatttcagc	8	10	14	9	0	2	2	1	2	1	0	3	2	2	2	2	5	2	1	2	5	2	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:134221441C>A	ENST00000359579.4	+	5	789	c.469C>A	c.(469-471)Ctt>Att	p.L157I	AKR1B10_ENST00000475559.1_Intron	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	157					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GGTGAAAGCCCTTGGGGTCTC	0.488													36	148					5.71845e-15	7.03809e-15	1	0	A	134221441	C	A	134221441	3	1	17	1	0	0	0	0	1	0	0	0	467	681	24	4	487	4	AKR1B10	7	134221441	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	16770605	134221441	24917222	48	3906											
CNTNAP2	26047	broad.mit.edu	37	chr7	146829576	146829576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaacatcacacagaccaaGatgagccaaatcgatatttc	17	8	5	11	1	2	3	2	1	0	2	4	4	2	3	2	0	2	0	2	0	4	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:146829576G>T	ENST00000361727.3	+	8	1839	c.1323G>T	c.(1321-1323)aaG>aaT	p.K441N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	441	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CACAGACCAAGATGAGCCAAA	0.413										HNSCC(39;0.1)			22	48					1.22574e-08	1.41205e-08	1	0	T	146829576	G	T	146829576	3	4	17	1	0	0	0	0	1	0	0	0	3677	933	33	2	1353	2	CNTNAP2	7	146829576	Missense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08	12608135	146829576	12309087	49	3907											
PAXIP1	22976	broad.mit.edu	37	chr7	154738224	154738225	+	Frame_Shift_Ins	INS	-	-	T																															taagcggggaaacgtacctaINStgcctctggcaaaatattct																										TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:154738224_154738225insT	ENST00000404141.1	-	19	3284_3285	c.3130_3131insA	c.(3130-3132)agafs	p.R1044fs	PAXIP1_ENST00000397192.1_Frame_Shift_Ins_p.R1044fs|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1044	BRCT 6.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AAACGTACCTATGCCTCTGGCA	0.406													27	76	---	---	---	---					T	154738225	-	T	154738224	7	5	17	1	0	1	1	0	0	0	0	0	11558	449	16	0	90	0	PAXIP1	7	154738224	Frame_Shift_Ins	INS	-	TCGA-BA-6870-01A-11D-1870-08	7908648	154738224	4400439	50	3908											
RUNX1T1	862	broad.mit.edu	37	chr8	93017495	93017495	+	Missense_Mutation	SNP	G	G	C																															ggccagtcttgcgcagtggaGgagctcacgctgcagcaggg																										TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr8:93017495G>C	ENST00000523629.1	-	6	1043	c.589C>G	c.(589-591)Ctc>Gtc	p.L197V	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.L160V|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.L170V|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.L208V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.L160V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.L197V|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.L160V|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.L170V|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.L160V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	197	TAFH.				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)			GCGCAGTGGAGGAGCTCACGC	0.557													6	71					0	0	0	0	C	93017495	G	C	93017495	3	2	17	1	0	0	0	0	1	0	0	0	13832	1000	35	4	1253	4	RUNX1T1	8	93017495	Missense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08		93017495	53346527	51	3909	40	2									
RUNX1T1	862	broad.mit.edu	37	chr8	93017496	93017496	+	Silent	SNP	G	G	A																															gccagtcttgcgcagtggagGagctcacgctgcagcagggg																										TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr8:93017496G>A	ENST00000523629.1	-	6	1042	c.588C>T	c.(586-588)ctC>ctT	p.L196L	RUNX1T1_ENST00000520724.1_Silent_p.L159L|RUNX1T1_ENST00000518844.1_Silent_p.L169L|RUNX1T1_ENST00000436581.2_Silent_p.L207L|RUNX1T1_ENST00000360348.2_Silent_p.L159L|RUNX1T1_ENST00000265814.3_Silent_p.L196L|RUNX1T1_ENST00000521553.1_Silent_p.L159L|RUNX1T1_ENST00000396218.1_Silent_p.L169L|RUNX1T1_ENST00000422361.2_Silent_p.L159L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	196	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L159L(1)		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)			CGCAGTGGAGGAGCTCACGCT	0.552													6	69					0	0	0	0	A	93017496	G	A	93017496	2	1	17	1	0	0	0	0	0	0	0	1	13832	1161	41	2		2	RUNX1T1	8	93017496	Silent	SNP	G	TCGA-BA-6870-01A-11D-1870-08	1	93017496	53346526	52	3910	40	2									
MTBP	27085	broad.mit.edu	37	chr8	121468867	121468867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcagaaatgttattgactCaaaggaattatggaggggga	14	11	12	4	0	2	2	2	1	1	1	3	5	2	5	0	4	0	1	0	4	5	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr8:121468867C>T	ENST00000305949.1	+	7	749	c.704C>T	c.(703-705)tCa>tTa	p.S235L		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	235					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GTTATTGACTCAAAGGAATTA	0.313													24	282					0	0	0	0	T	121468867	C	T	121468867	3	4	17	1	0	0	0	0	1	0	0	0	9982	838	29	2	730	2	MTBP	8	121468867	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	28451371	121468867	24895155	53	3911											
DMRT2	10655	broad.mit.edu	37	chr9	1057243	1057243	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtctattcttaagaggccTtcatctgccatcactcgtgt	8	14	8	11	1	5	1	2	0	3	1	6	2	5	1	2	1	1	0	2	1	2	4			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr9:1057243T>C	ENST00000382251.3	+	5	1985	c.1656T>C	c.(1654-1656)ccT>ccC	p.P552P	DMRT2_ENST00000302441.6_Silent_p.P552P|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Silent_p.P552P			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	552					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TTAAGAGGCCTTCATCTGCCA	0.393													20	54					0	0	0	0	C	1057243	T	C	1057243	2	2	17	1	0	0	0	0	0	0	0	1	4623	1596	56	5		5	DMRT2	9	1057243	Silent	SNP	T	TCGA-BA-6870-01A-11D-1870-08		1057243	140156188	54	3912											
RC3H2	54542	broad.mit.edu	37	chr9	125618124	125618124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataatgggaaagatgatcttCttcaaattttgtaccactca	14	14	6	7	0	4	2	2	1	2	1	4	3	4	3	1	1	1	1	1	1	4	6			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr9:125618124C>T	ENST00000373670.1	-	13	3088	c.2488G>A	c.(2488-2490)Gaa>Aaa	p.E830K	RC3H2_ENST00000423239.2_Missense_Mutation_p.E830K|RC3H2_ENST00000357244.2_Missense_Mutation_p.E830K			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	830						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AGATGATCTTCTTCAAATTTT	0.343													9	59					0	0	0	0	T	125618124	C	T	125618124	3	4	17	1	0	0	0	0	1	0	0	0	13249	922	32	2	1197	2	RC3H2	9	125618124	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	124560881	125618124	15595307	55	3913											
RC3H2	54542	broad.mit.edu	37	chr9	125621230	125621230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctggtaaggagaagaattCattcgatctcgaggggaaaa	14	8	14	5	2	2	2	1	0	1	2	4	6	2	3	0	5	0	2	0	5	5	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr9:125621230C>T	ENST00000373670.1	-	11	2601	c.2001G>A	c.(1999-2001)atG>atA	p.M667I	RC3H2_ENST00000423239.2_Missense_Mutation_p.M667I|RC3H2_ENST00000357244.2_Missense_Mutation_p.M667I			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	667	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GAGAAGAATTCATTCGATCTC	0.522													5	213					0	0	0	0	T	125621230	C	T	125621230	3	4	17	1	0	0	0	0	1	0	0	0	13249	826	29	2	1692	2	RC3H2	9	125621230	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	3106	125621230	15592201	56	3914											
TTF1	7270	broad.mit.edu	37	chr9	135276927	135276927	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcacaccttcttccatcaTggcgccatcaccttctactg	7	14	4	16	1	5	0	3	0	2	0	6	0	6	0	4	1	1	0	4	1	1	5			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr9:135276927T>C	ENST00000334270.2	-	2	1321	c.1282A>G	c.(1282-1284)Atg>Gtg	p.M428V		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	428					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCTTCCATCATGGCGCCATCA	0.507													66	78					0	0	0	0	C	135276927	T	C	135276927	3	2	17	1	0	0	0	0	1	0	0	0	16814	1464	51	5	1475	5	TTF1	9	135276927	Missense_Mutation	SNP	T	TCGA-BA-6870-01A-11D-1870-08	9655697	135276927	5936504	57	3915											
OR56A1	120796	broad.mit.edu	37	chr11	6048343	6048344	+	Frame_Shift_Ins	INS	-	-	A																															attctgttaagggtgaaattINSatcacaggagagcctggaca																										TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr11:6048343_6048344insA	ENST00000316650.5	-	1	627_628	c.591_592insT	c.(589-594)gaatttfs	p.EF197fs		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGTGAAATTATCACAGGAGA	0.46													12	109	---	---	---	---					A	6048344	-	A	6048343	7	5	17	1	0	1	1	0	0	0	0	0	11204	1754	61	0	368	0	OR56A1	11	6048343	Frame_Shift_Ins	INS	-	TCGA-BA-6870-01A-11D-1870-08		6048343	128958173	58	3916											
OR5I1	10798	broad.mit.edu	37	chr11	55703033	55703033	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagcactggaatgaaaaTggtgtagaacactgagataa	17	9	10	5	0	1	3	1	2	0	2	1	5	1	4	0	2	2	2	0	2	6	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr11:55703033T>C	ENST00000301532.3	-	1	843	c.844A>G	c.(844-846)Att>Gtt	p.I282V		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGAATGAAAATGGTGTAGAAC	0.383													12	26					0	0	0	0	C	55703033	T	C	55703033	3	2	17	1	0	0	0	0	1	0	0	0	11235	1464	51	5	103	5	OR5I1	11	55703033	Missense_Mutation	SNP	T	TCGA-BA-6870-01A-11D-1870-08	49654690	55703033	79303483	59	3917											
MS4A12	54860	broad.mit.edu	37	chr11	60264874	60264874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagcagctttatggctcCtggatttcaacagcctctgg	9	11	9	12	0	2	0	1	0	1	0	3	1	3	1	3	3	4	3	3	3	3	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr11:60264874C>A	ENST00000016913.4	+	2	140	c.83C>A	c.(82-84)cCt>cAt	p.P28H	MS4A12_ENST00000525951.1_3'UTR|MS4A12_ENST00000537076.1_Missense_Mutation_p.P28H	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	28						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TTTATGGCTCCTGGATTTCAA	0.478													27	83					2.48779e-11	2.98535e-11	1	0	A	60264874	C	A	60264874	3	1	17	1	0	0	0	0	1	0	0	0	9926	681	24	4	85	4	MS4A12	11	60264874	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	4561841	60264874	74741642	60	3918											
PC	5091	broad.mit.edu	37	chr11	66617874	66617874	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgcagtcgaaggccgcGtacagtccccgagccccctc	6	5	12	18	5	0	0	0	0	0	0	3	2	1	0	6	1	3	2	6	1	2	1			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr11:66617874G>A	ENST00000393960.1	-	19	2816	c.2535C>T	c.(2533-2535)taC>taT	p.Y845Y	PC_ENST00000393955.2_Silent_p.Y845Y|PC_ENST00000393958.2_Silent_p.Y845Y	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	845					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGAAGGCCGCGTACAGTCCCC	0.597													9	87					0	0	0	0	A	66617874	G	A	66617874	2	1	17	1	0	0	0	0	0	0	0	1	11568	1140	40	1		1	PC	11	66617874	Silent	SNP	G	TCGA-BA-6870-01A-11D-1870-08	6353000	66617874	68388642	61	3919											
MMP8	4317	broad.mit.edu	37	chr11	102585393	102585393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atagtttgatatatccttggGataaccttgcagaatatcat	13	15	7	6	0	1	2	1	1	0	1	2	3	2	3	2	1	2	2	2	1	6	8			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr11:102585393G>A	ENST00000236826.3	-	8	1182	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	362	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ATATCCTTGGGATAACCTTGC	0.383													10	174					0	0	0	0	A	102585393	G	A	102585393	3	1	17	1	0	0	0	0	1	0	0	0	9738	1174	41	2	331	2	MMP8	11	102585393	Missense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08	35967519	102585393	32421123	62	3920											
PARP11	57097	broad.mit.edu	37	chr12	3935380	3935380	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcgctgctttccagtggtGagattcatttgcttcatttc	7	16	9	9	1	2	1	2	1	0	1	4	2	3	1	1	1	3	3	1	1	1	5			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:3935380G>A	ENST00000228820.4	-	4	432	c.288C>T	c.(286-288)ctC>ctT	p.L96L	PARP11_ENST00000427057.2_Silent_p.L15L|PARP11_ENST00000447133.3_Silent_p.L15L|PARP11_ENST00000397096.2_Silent_p.L89L	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	89	WWE.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TTCCAGTGGTGAGATTCATTT	0.358													23	172					0	0	0	0	A	3935380	G	A	3935380	2	1	17	1	0	0	0	0	0	0	0	1	11527	1277	45	2		2	PARP11	12	3935380	Silent	SNP	G	TCGA-BA-6870-01A-11D-1870-08		3935380	129916515	63	3921											
DPPA3	359787	broad.mit.edu	37	chr12	7864205	7864205	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatccaacctacatcccaggGtctccacaaatgctcaccga	13	7	5	16	1	2	0	1	0	1	0	5	1	4	0	5	1	3	1	5	1	4	1			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:7864205G>T	ENST00000345088.2	+	1	156	c.39G>T	c.(37-39)ggG>ggT	p.G13G		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	13						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		ACATCCCAGGGTCTCCACAAA	0.483													3	43					0.004672	0.00498347	1	0	T	7864205	G	T	7864205	2	4	17	1	0	0	0	0	0	0	0	1	4771	1248	44	4		4	DPPA3	12	7864205	Silent	SNP	G	TCGA-BA-6870-01A-11D-1870-08	3928825	7864205	125987690	64	3922											
PDZRN4	29951	broad.mit.edu	37	chr12	41966610	41966610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagaactgagaaacattGagcttgagtgtcagaatatc	16	10	10	5	0	1	6	1	4	0	3	2	7	1	6	0	0	3	1	0	0	5	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:41966610G>A	ENST00000298919.7	+	10	1637	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E419K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E677K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	677	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAGAAACATTGAGCTTGAGTG	0.453													13	80					0	0	0	0	A	41966610	G	A	41966610	3	1	17	1	0	0	0	0	1	0	0	0	11781	1291	45	2	2140	2	PDZRN4	12	41966610	Missense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08	34102405	41966610	91885285	65	3923											
NCKAP1L	3071	broad.mit.edu	37	chr12	54936370	54936370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcaggtggtggaggaGtcatccttcctgaccctgga	6	12	12	11	0	3	1	2	1	1	0	5	4	5	4	3	5	0	0	3	5	0	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:54936370G>A	ENST00000293373.6	+	31	3364	c.3285G>A	c.(3283-3285)gaG>gaA	p.E1095E	NCKAP1L_ENST00000545638.2_Silent_p.E1045E	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1095					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGGTGGAGGAGTCATCCTTCC	0.527													18	136					0	0	0	0	A	54936370	G	A	54936370	2	1	17	1	0	0	0	0	0	0	0	1	10292	1020	36	4		4	NCKAP1L	12	54936370	Silent	SNP	G	TCGA-BA-6870-01A-11D-1870-08	12969760	54936370	78915525	66	3924											
LRIG3	121227	broad.mit.edu	37	chr12	59266402	59266402	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggagtcctgtagttttcTaaagtctgtttaaaggtaca	10	17	9	5	0	2	0	0	0	2	0	3	1	3	1	1	2	1	4	1	2	6	8			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:59266402T>G	ENST00000320743.3	-	19	3598	c.3312A>C	c.(3310-3312)ttA>ttC	p.L1104F	LRIG3_ENST00000379141.4_Missense_Mutation_p.L1044F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1104						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGTAGTTTTCTAAAGTCTGTT	0.383			T	ROS1	NSCLC								16	98					0	0	0	0	G	59266402	T	G	59266402	3	3	17	1	0	0	0	0	1	0	0	0	9010	1519	53	5	51	5	LRIG3	12	59266402	Missense_Mutation	SNP	T	TCGA-BA-6870-01A-11D-1870-08	4330032	59266402	74585493	67	3925											
DPY19L2	283417	broad.mit.edu	37	chr12	64041067	64041067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggttctattctggtgaCattccagcaggtcttagttt	9	15	10	7	0	3	2	0	1	3	1	4	2	4	2	1	3	1	3	1	3	3	6			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:64041067C>T	ENST00000324472.4	-	5	850	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	223					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATTCTGGTGACATTCCAGCAG	0.318													17	133					0	0	0	0	T	64041067	C	T	64041067	3	4	17	1	0	0	0	0	1	0	0	0	4777	478	17	4	1681	4	DPY19L2	12	64041067	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	4774665	64041067	69810828	68	3926											
PIWIL1	9271	broad.mit.edu	37	chr12	130847537	130847537	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctctggcctgtttcagcGgctctgagggcttggaatag	5	13	13	10	1	3	1	1	1	2	0	4	2	3	2	1	4	1	3	1	4	2	4			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:130847537G>A	ENST00000245255.3	+	18	2315	c.2041_splice	c.e18-1	p.A681_splice		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	681	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CTGTTTCAGCGGCTCTGAGGG	0.512													26	62					0	0	0	0	A	130847537	G	A	130847537	5	1	17	1	0	0	0	0	0	0	1	0	12029	1130	39	1	2109	1	PIWIL1	12	130847537	Splice_Site	SNP	G	TCGA-BA-6870-01A-11D-1870-08	66806470	130847537	3004358	69	3927											
WASF3	10810	broad.mit.edu	37	chr13	27255411	27255411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccgcctccccctcaggccCcagaggggtcccaggcctct	4	5	10	22	1	2	1	1	0	1	1	4	1	4	1	9	4	0	0	9	4	0	0			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr13:27255411C>T	ENST00000361042.4	+	8	1153	c.928C>T	c.(928-930)Cca>Tca	p.P310S	WASF3_ENST00000335327.5_Missense_Mutation_p.P313S			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	313	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCTCAGGCCCCAGAGGGGTC	0.652													32	97					0	0	0	0	T	27255411	C	T	27255411	3	4	17	1	0	0	0	0	1	0	0	0	17350	623	22	4	959	4	WASF3	13	27255411	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08		27255411	87914467	70	3928											
BRCA2	675	broad.mit.edu	37	chr13	32936727	32936727	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgggtttataatcactatAgatggatcatatggaaactg	13	15	9	4	0	2	1	2	0	0	1	2	3	2	3	0	3	1	1	0	3	6	7			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr13:32936727A>T	ENST00000544455.1	+	17	8100	c.7873A>T	c.(7873-7875)Aga>Tga	p.R2625*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.R2625*	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2625					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAATCACTATAGATGGATCAT	0.368			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			26	72					0	0	0	0	T	32936727	A	T	32936727	4	4	17	1	0	0	0	0	0	1	0	0	1507	412	15	5	7935	5	BRCA2	13	32936727	Nonsense_Mutation	SNP	A	TCGA-BA-6870-01A-11D-1870-08	5681316	32936727	82233151	71	3929											
SPTB	6710	broad.mit.edu	37	chr14	65239589	65239589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgcgtcgatgagtcgctcGatgaaggcattcacattgtc	8	10	11	12	5	1	2	1	2	0	0	5	4	1	2	1	1	0	2	1	1	1	2	rs142168941		TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr14:65239589G>A	ENST00000389722.3	-	25	5315	c.5262C>T	c.(5260-5262)atC>atT	p.I1754I	SPTB_ENST00000556626.1_Silent_p.I1754I|SPTB_ENST00000542895.1_Silent_p.I1754I|SPTB_ENST00000389720.3_Silent_p.I1754I|SPTB_ENST00000389721.5_Silent_p.I1754I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1754					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.I1754I(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGAGTCGCTCGATGAAGGCAT	0.637													12	21					0	0	0	0	A	65239589	G	A	65239589	2	1	17	1	0	0	0	0	0	0	0	1	15208	1048	37	1		1	SPTB	14	65239589	Silent	SNP	G	TCGA-BA-6870-01A-11D-1870-08		65239589	42109951	72	3930											
ABCD4	5826	broad.mit.edu	37	chr14	74766262	74766262	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcttaccgtggagttcaGaacaatgagcatgacagcca	14	8	10	9	1	2	4	1	2	1	2	2	5	2	5	2	1	4	2	2	1	3	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr14:74766262G>C	ENST00000356924.4	-	3	417	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	ABCD4_ENST00000298816.7_Missense_Mutation_p.L5V|ABCD4_ENST00000557554.1_5'UTR|ABCD4_ENST00000557588.1_Missense_Mutation_p.L92V	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	92	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GTGGAGTTCAGAACAATGAGC	0.512													20	72					0	0	0	0	C	74766262	G	C	74766262	3	2	17	1	0	0	0	0	1	0	0	0	63	933	33	2	1614	2	ABCD4	14	74766262	Missense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08	9526673	74766262	32583278	73	3931											
NRXN3	9369	broad.mit.edu	37	chr14	79181301	79181301	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcattgatgggcgcagcaaGaacattcgacagctggcaga	12	8	12	9	2	1	3	1	1	0	2	2	4	1	3	0	2	3	4	0	2	2	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr14:79181301G>C	ENST00000554719.1	+	5	1235	c.744G>C	c.(742-744)aaG>aaC	p.K248N	NRXN3_ENST00000335750.5_Missense_Mutation_p.K248N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	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)		GGCGCAGCAAGAACATTCGAC	0.557													11	36					0	0	0	0	C	79181301	G	C	79181301	3	2	17	1	0	0	0	0	1	0	0	0	10738	933	33	2	754	2	NRXN3	14	79181301	Missense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08	4415039	79181301	28168239	74	3932											
LTK	4058	broad.mit.edu	37	chr15	41797201	41797201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgccatcccaaagtcccCaatcttggccactcggctgg	7	9	9	16	2	1	0	0	0	1	0	5	0	3	0	5	3	1	1	5	3	2	1			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr15:41797201C>T	ENST00000263800.6	-	16	2083	c.1987G>A	c.(1987-1989)Ggg>Agg	p.G663R	LTK_ENST00000355166.5_Missense_Mutation_p.G602R|LTK_ENST00000453182.2_Missense_Mutation_p.G533R|LTK_ENST00000561619.1_Missense_Mutation_p.G361R	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	663	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CCAAAGTCCCCAATCTTGGCC	0.567										TSP Lung(18;0.14)			11	32					0	0	0	0	T	41797201	C	T	41797201	3	4	17	1	0	0	0	0	1	0	0	0	9144	594	21	4	627	4	LTK	15	41797201	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08		41797201	60734191	75	3933											
THSD4	79875	broad.mit.edu	37	chr15	72023537	72023537	+	Silent	SNP	G	G	A																															aacgccatcagcccccaggtGccaccccacaggagaccagg																										TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr15:72023537G>A	ENST00000355327.3	+	10	1745	c.1611G>A	c.(1609-1611)gtG>gtA	p.V537V	THSD4_ENST00000261862.6_Silent_p.V537V|THSD4_ENST00000357769.4_Silent_p.V177V|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	537						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCCCCCAGGTGCCACCCCACA	0.537											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	47					0	0	0	0	A	72023537	G	A	72023537	2	1	17	1	0	0	0	0	0	0	0	1	15972	1306	46	4		4	THSD4	15	72023537	Silent	SNP	G	TCGA-BA-6870-01A-11D-1870-08	30226336	72023537	30507855	76	3934	41	2									
THSD4	79875	broad.mit.edu	37	chr15	72023538	72023538	+	Missense_Mutation	SNP	C	C	T																															acgccatcagcccccaggtgCcaccccacaggagaccaggt																										TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr15:72023538C>T	ENST00000355327.3	+	10	1746	c.1612C>T	c.(1612-1614)Cca>Tca	p.P538S	THSD4_ENST00000261862.6_Missense_Mutation_p.P538S|THSD4_ENST00000357769.4_Missense_Mutation_p.P178S|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	538						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCCCAGGTGCCACCCCACAG	0.542											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	46					0	0	0	0	T	72023538	C	T	72023538	3	4	17	1	0	0	0	0	1	0	0	0	15972	739	26	4	1646	4	THSD4	15	72023538	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	1	72023538	30507854	77	3935	41	2									
DNAH3	55567	broad.mit.edu	37	chr16	20998737	20998737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagaagacccgataaacctCatggatccaaagccggatac	16	6	8	11	2	1	2	1	0	0	2	2	5	2	4	4	2	3	0	4	2	6	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:20998737C>T	ENST00000261383.3	-	47	6915	c.6916G>A	c.(6916-6918)Gag>Aag	p.E2306K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2306					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGATAAACCTCATGGATCCAA	0.428													15	82					0	0	0	0	T	20998737	C	T	20998737	3	4	17	1	0	0	0	0	1	0	0	0	4640	835	29	2	5497	2	DNAH3	16	20998737	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08		20998737	69356016	78	3936											
UBFD1	56061	broad.mit.edu	37	chr16	23570829	23570829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagtcatgtataagggactCgtccccgaggataaaacatt	15	9	9	8	2	1	0	1	0	0	0	3	3	2	2	2	2	1	1	2	2	5	4			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:23570829C>T	ENST00000395878.3	+	3	777	c.396C>T	c.(394-396)ctC>ctT	p.L132L	UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000219638.4_Silent_p.L356L|UBFD1_ENST00000567264.1_Silent_p.L132L|UBFD1_ENST00000567212.1_Silent_p.L123L	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	132	Ubiquitin-like.									endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		ATAAGGGACTCGTCCCCGAGG	0.458													8	40					0	0	0	0	T	23570829	C	T	23570829	2	4	17	1	0	0	0	0	0	0	0	1	16980	871	31	1		1	UBFD1	16	23570829	Silent	SNP	C	TCGA-BA-6870-01A-11D-1870-08	2572092	23570829	66783924	79	3937											
GTF3C1	2975	broad.mit.edu	37	chr16	27483198	27483198	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggcactccatgaaggccTtcacaagaacgtggtccttg	9	10	10	12	1	2	2	1	1	1	1	4	2	4	2	3	3	1	1	3	3	3	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:27483198T>C	ENST00000356183.4	-	30	4412	c.4397A>G	c.(4396-4398)aAg>aGg	p.K1466R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.K1466R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1466						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATGAAGGCCTTCACAAGAAC	0.627													18	62					0	0	0	0	C	27483198	T	C	27483198	3	2	17	1	0	0	0	0	1	0	0	0	6922	1609	56	5	1964	5	GTF3C1	16	27483198	Missense_Mutation	SNP	T	TCGA-BA-6870-01A-11D-1870-08	3912369	27483198	62871555	80	3938											
ZNF423	23090	broad.mit.edu	37	chr16	49670697	49670697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctccacctcggtgctgaagGtctccccacagaagatgcac	9	7	10	15	1	1	3	0	1	1	2	4	3	2	3	4	2	2	3	4	2	2	0			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:49670697G>T	ENST00000561648.1	-	4	2419	c.2366C>A	c.(2365-2367)aCc>aAc	p.T789N	ZNF423_ENST00000562520.1_Missense_Mutation_p.T729N|ZNF423_ENST00000262383.2_Missense_Mutation_p.T789N|ZNF423_ENST00000562871.1_Missense_Mutation_p.T729N|ZNF423_ENST00000535559.1_Missense_Mutation_p.T672N|ZNF423_ENST00000563137.2_Missense_Mutation_p.T729N|ZNF423_ENST00000567169.1_Missense_Mutation_p.T672N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	789					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTGCTGAAGGTCTCCCCACA	0.572													9	84					0.00136819	0.00148135	1	0	T	49670697	G	T	49670697	3	4	17	1	0	0	0	0	1	0	0	0	17993	1261	44	4	1508	4	ZNF423	16	49670697	Missense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08	22187499	49670697	40684056	81	3939											
HPR	3250	broad.mit.edu	37	chr16	72110554	72110554	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgagagagtgatgcccatCtgcctaccttcaaagaatta	14	10	8	9	0	2	4	1	2	1	2	2	5	2	4	3	0	3	0	3	0	5	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:72110554C>T	ENST00000540303.2	+	5	653	c.621C>T	c.(619-621)atC>atT	p.I207I	HPR_ENST00000356967.5_Silent_p.I207I|HPR_ENST00000228226.8_Silent_p.I244I|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	207	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	p.I207M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TGATGCCCATCTGCCTACCTT	0.448													19	141					0	0	0	0	T	72110554	C	T	72110554	2	4	17	1	0	0	0	0	0	0	0	1	7387	903	32	2		2	HPR	16	72110554	Silent	SNP	C	TCGA-BA-6870-01A-11D-1870-08	22439857	72110554	18244199	82	3940											
TP53	7157	broad.mit.edu	37	chr17	7577556	7577556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggttcatgccgcccatgCaggaactgttacacatgtag	9	10	10	12	2	1	0	1	0	0	0	2	1	2	1	3	2	4	4	3	2	3	3	rs121912655		TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr17:7577556C>T	ENST00000420246.2	-	7	857	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	TP53_ENST00000269305.4_Missense_Mutation_p.C242Y|TP53_ENST00000359597.4_Missense_Mutation_p.C242Y|TP53_ENST00000455263.2_Missense_Mutation_p.C242Y|TP53_ENST00000413465.2_Missense_Mutation_p.C242Y|TP53_ENST00000445888.2_Missense_Mutation_p.C242Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGCCCATGCAGGAACTGTT	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			36	62					0	0	0	0	T	7577556	C	T	7577556	3	4	17	1	0	0	0	0	1	0	0	0	16476	710	25	4	565	4	TP53	17	7577556	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08		7577556	73617654	83	3941											
SCO1	6341	broad.mit.edu	37	chr17	10584496	10584496	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagcagctatttctcccttCctcttgttctggccaaaata	9	14	6	12	0	3	0	0	0	3	0	5	1	4	0	3	1	2	3	3	1	5	6			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr17:10584496C>T	ENST00000255390.5	-	6	906	c.846G>A	c.(844-846)agG>agA	p.R282R	CTC-297N7.10_ENST00000584139.1_RNA|SCO1_ENST00000577427.1_Silent_p.R251R	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	282					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TTTCTCCCTTCCTCTTGTTCT	0.438													46	74					0	0	0	0	T	10584496	C	T	10584496	2	4	17	1	0	0	0	0	0	0	0	1	14018	854	30	2		2	SCO1	17	10584496	Silent	SNP	C	TCGA-BA-6870-01A-11D-1870-08	3006940	10584496	70610714	84	3942											
MAP2K4	6416	broad.mit.edu	37	chr17	12016562	12016575	+	Frame_Shift_Del	DEL	CCAATATTCTTCTG	CCAATATTCTTCTG	-																															tcttgcagatatcaaaccttCcaatattcttctggacagaa																										TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr17:12016562_12016575delCCAATATTCTTCTG	ENST00000415385.3	+	8	784_797	c.731_744delCCAATATTCTTCTG	c.(730-744)tfs	p.SNILL244fs	MAP2K4_ENST00000353533.5_Frame_Shift_Del_p.SNILL233fs			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	233	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.N234I(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATCAAACCTTCCAATATTCTTCTGGACAGAAGTG	0.388			"D, Mis, N"		"pancreatic, breast, colorectal"								15	56	---	---	---	---					-	12016575	CCAATATTCTTCTG	-	12016562	7	5	17	1	0	1	0	1	0	0	0	0	9308	855	30	0	724	0	MAP2K4	17	12016562	Frame_Shift_Del	DEL	CCAATATTCTTCTG	TCGA-BA-6870-01A-11D-1870-08	1432066	12016562	69178648	85	3943											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39261862	39261862	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgctgtcagaccacctgTtgcaggaccacctgctaccg	8	8	10	15	1	1	1	1	0	0	1	1	2	1	2	5	1	5	5	5	1	1	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr17:39261862T>C	ENST00000391415.1	+	1	279	c.222T>C	c.(220-222)tgT>tgC	p.C74C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	74	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].		Missing (in allele KAP.9-v1).			keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						AGACCACCTGTTGCAGGACCA	0.652													6	37					0	0	0	0	C	39261862	T	C	39261862	2	2	17	1	0	0	0	0	0	0	0	1	8610	1731	60	5		5	KRTAP4-9	17	39261862	Silent	SNP	T	TCGA-BA-6870-01A-11D-1870-08	27245300	39261862	41933348	86	3944											
MKNK2	2872	broad.mit.edu	37	chr19	2041985	2041985	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtcgtagatgctagcctcctCgctgaaggcctccactacct	7	10	9	15	2	0	2	0	1	0	1	4	2	2	2	5	1	3	3	5	1	4	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:2041985C>G	ENST00000250896.3	-	11	1043	c.799G>C	c.(799-801)Gag>Cag	p.E267Q	MKNK2_ENST00000541165.1_Missense_Mutation_p.E136Q|MKNK2_ENST00000309340.7_Missense_Mutation_p.E267Q|MKNK2_ENST00000591588.1_Missense_Mutation_p.E11Q|MKNK2_ENST00000591142.1_Missense_Mutation_p.E11Q|MKNK2_ENST00000588014.1_Missense_Mutation_p.E11Q|MKNK2_ENST00000591601.1_Missense_Mutation_p.E267Q	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	267	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		CTAGCCTCCTCGCTGAAGGCC	0.667													3	8					0	0	0	0	G	2041985	C	G	2041985	3	3	17	1	0	0	0	0	1	0	0	0	9674	893	31	3	709	3	MKNK2	19	2041985	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08		2041985	57086998	87	3945											
TLE6	79816	broad.mit.edu	37	chr19	2987759	2987759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accaggatcctgtgacccagGaacagacccatgtcctgaag	12	6	10	13	0	0	3	0	2	0	1	2	5	2	5	5	2	1	0	5	2	2	0			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:2987759G>A	ENST00000246112.4	+	9	797	c.596G>A	c.(595-597)gGa>gAa	p.G199E	TLE6_ENST00000452088.1_Missense_Mutation_p.G76E|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	76					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		TGTGACCCAGGAACAGACCCA	0.607													7	91					0	0	0	0	A	2987759	G	A	2987759	3	1	17	1	0	0	0	0	1	0	0	0	16036	1174	41	2	626	2	TLE6	19	2987759	Missense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08	945774	2987759	56141224	88	3946											
CHAF1A	10036	broad.mit.edu	37	chr19	4418037	4418037	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataactaagaaattcgtcaaAggctctacagagaagaacaa	20	7	7	7	1	2	3	1	0	1	3	3	4	2	3	0	1	3	1	0	1	8	4			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:4418037A>G	ENST00000301280.5	+	4	1082	c.981A>G	c.(979-981)aaA>aaG	p.K327K		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	327	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AATTCGTCAAAGGCTCTACAG	0.353								Chromatin Structure					7	97					0	0	0	0	G	4418037	A	G	4418037	2	3	17	1	0	0	0	0	0	0	0	1	3340	69	3	5		5	CHAF1A	19	4418037	Silent	SNP	A	TCGA-BA-6870-01A-11D-1870-08	1430278	4418037	54710946	89	3947											
ZNF433	163059	broad.mit.edu	37	chr19	12126445	12126446	+	Frame_Shift_Ins	INS	-	-	A																															tctccagtgtgagttctttcINSatgatatcggaaggaactgg																										TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:12126445_12126446insA	ENST00000419886.2	-	5	1422_1423	c.1131_1132insT	c.(1129-1134)caaaagfs	p.Q377fs	CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000344980.6_Frame_Shift_Ins_p.Q412fs|CTD-2006C1.2_ENST00000476474.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TGAGTTCTTTCATGATATCGGA	0.431													44	92	---	---	---	---					A	12126446	-	A	12126445	7	5	17	1	0	1	1	0	0	0	0	0	18002	835	29	0	788	0	ZNF433	19	12126445	Frame_Shift_Ins	INS	-	TCGA-BA-6870-01A-11D-1870-08	7708408	12126445	47002538	90	3948											
ZNF493	284443	broad.mit.edu	37	chr19	21606460	21606460	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaaagcctttagtattttCtcaacccctactaaacataa	14	12	4	11	0	1	0	1	0	1	0	2	0	1	0	3	1	4	2	3	1	8	8			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:21606460C>T	ENST00000392288.2	+	4	1108	c.999C>T	c.(997-999)ttC>ttT	p.F333F	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.F205F	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTAGTATTTTCTCAACCCCTA	0.348													4	90					0	0	0	0	T	21606460	C	T	21606460	2	4	17	1	0	0	0	0	0	0	0	1	18039	912	32	2		2	ZNF493	19	21606460	Silent	SNP	C	TCGA-BA-6870-01A-11D-1870-08	9480015	21606460	37522523	91	3949											
CHST8	64377	broad.mit.edu	37	chr19	34263477	34263477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttgtccgcgagcccttcGagaggctggtgtccgccttc	3	12	12	14	4	1	1	0	0	1	1	5	3	3	1	4	2	1	1	4	2	0	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:34263477G>A	ENST00000262622.3	+	4	1542	c.784G>A	c.(784-786)Gag>Aag	p.E262K	CHST8_ENST00000434302.1_Missense_Mutation_p.E262K|CHST8_ENST00000438847.2_Missense_Mutation_p.E262K	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	262					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CGAGCCCTTCGAGAGGCTGGT	0.617													7	95					0	0	0	0	A	34263477	G	A	34263477	3	1	17	1	0	0	0	0	1	0	0	0	3439	1059	37	1	794	1	CHST8	19	34263477	Missense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08	12657017	34263477	24865506	92	3950											
LMTK3	114783	broad.mit.edu	37	chr19	48989041	48989041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggggaatcaattctccaCggggcctgaggatggacaga	10	8	14	9	2	2	2	1	1	1	1	4	5	2	5	2	6	0	0	2	6	2	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:48989041C>A	ENST00000600059.1	-	15	4599	c.4372G>T	c.(4372-4374)Gtg>Ttg	p.V1458L	LMTK3_ENST00000270238.3_Missense_Mutation_p.V1487L					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CAATTCTCCACGGGGCCTGAG	0.572													7	15					0.00307968	0.00330951	1	0	A	48989041	C	A	48989041	3	1	17	1	0	0	0	0	1	0	0	0	8915	536	19	3	14	3	LMTK3	19	48989041	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	14725564	48989041	10139942	93	3951											
KLK3	354	broad.mit.edu	37	chr19	51363277	51363277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtgcttcaaggtatcaCgtcatggggcagtgaaccat	9	11	13	8	1	3	1	3	1	0	0	3	1	3	1	1	4	2	3	1	4	3	2	rs138882542	by1000genomes	TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:51363277C>T	ENST00000326003.2	+	5	721	c.680C>T	c.(679-681)aCg>aTg	p.T227M	KLK3_ENST00000360617.3_3'UTR|KLK3_ENST00000595952.1_Missense_Mutation_p.T184M	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	227	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CAAGGTATCACGTCATGGGGC	0.547													36	66					0	0	0	0	T	51363277	C	T	51363277	3	4	17	1	0	0	0	0	1	0	0	0	8457	536	19	1	793	1	KLK3	19	51363277	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	2374236	51363277	7765706	94	3952											
JAG1	182	broad.mit.edu	37	chr20	10653370	10653370	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggcgaaactgaaaggCagcacgatgcggttgcggtc	10	5	16	10	4	0	1	0	1	0	0	1	3	0	1	1	5	4	3	1	5	2	1			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:10653370C>G	ENST00000254958.5	-	2	881	c.366G>C	c.(364-366)ctG>ctC	p.L122L		NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	122					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AACTGAAAGGCAGCACGATGC	0.677									Alagille Syndrome				9	30					0	0	0	0	G	10653370	C	G	10653370	2	3	17	1	0	0	0	0	0	0	0	1	7987	697	25	4		4	JAG1	20	10653370	Silent	SNP	C	TCGA-BA-6870-01A-11D-1870-08		10653370	52372150	95	3953											
XRN2	22803	broad.mit.edu	37	chr20	21314185	21314185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattcctgttcttgcagcatGatgaacttgccgatagtctt	8	15	8	10	1	2	2	0	2	2	0	3	3	3	2	2	0	4	3	2	0	2	6			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:21314185G>A	ENST00000377191.3	+	10	957	c.862G>A	c.(862-864)Gat>Aat	p.D288N	XRN2_ENST00000539513.1_Missense_Mutation_p.D234N|XRN2_ENST00000430571.2_Missense_Mutation_p.D212N	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	288					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CTTGCAGCATGATGAACTTGC	0.388													17	129					0	0	0	0	A	21314185	G	A	21314185	3	1	17	1	0	0	0	0	1	0	0	0	17556	1290	45	2	900	2	XRN2	20	21314185	Missense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08	10660815	21314185	41711335	96	3954											
SUN5	140732	broad.mit.edu	37	chr20	31587923	31587923	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgtcttctccatgagcttCtggcacagcagcttgcatct	6	13	8	14	0	4	1	0	1	4	0	5	1	4	1	2	1	4	5	2	1	0	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:31587923C>G	ENST00000356173.3	-	5	389	c.297G>C	c.(295-297)caG>caC	p.Q99H	SUN5_ENST00000375523.3_Missense_Mutation_p.Q74H|SUN5_ENST00000375519.2_Missense_Mutation_p.R77T	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	99					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CCATGAGCTTCTGGCACAGCA	0.602													8	47					0	0	0	0	G	31587923	C	G	31587923	3	3	17	1	0	0	0	0	1	0	0	0	15484	912	32	2	878	2	SUN5	20	31587923	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	10273738	31587923	31437597	97	3955											
PTPRT	11122	broad.mit.edu	37	chr20	41101056	41101056	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctcctcggcctcgtactGctgctggttgaacacatact	7	11	9	14	2	0	1	0	1	0	0	3	2	1	1	3	2	5	4	3	2	3	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:41101056G>A	ENST00000373198.3	-	8	1535	c.1300C>T	c.(1300-1302)Cag>Tag	p.Q434*	PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Q434*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Q434*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Q434*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Q434*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Q434*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Q434*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	434	Fibronectin type-III 2.				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)				GCCTCGTACTGCTGCTGGTTG	0.627													50	59					0	0	0	0	A	41101056	G	A	41101056	4	1	17	1	0	0	0	0	0	1	0	0	12894	1328	46	4	3182	4	PTPRT	20	41101056	Nonsense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08	9513133	41101056	21924464	98	3956											
MYT1	4661	broad.mit.edu	37	chr20	62871243	62871243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagtctcgccaatatccGccttccgcacatggtaggca	10	8	8	15	3	1	0	0	0	1	0	4	0	3	0	5	2	0	3	5	2	4	3	rs139674530		TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:62871243G>T	ENST00000536311.1	+	22	3669	c.3305G>T	c.(3304-3306)cGc>cTc	p.R1102L	MYT1_ENST00000328439.1_Missense_Mutation_p.R1075L			Q01538	MYT1_HUMAN	myelin transcription factor 1	1075				D -> A (in Ref. 5; AAA59897).	cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCAATATCCGCCTTCCGCAC	0.622													37	114					7.04047e-22	8.8159e-22	1	0	T	62871243	G	T	62871243	3	4	17	1	0	0	0	0	1	0	0	0	10176	1087	38	3	3302	3	MYT1	20	62871243	Missense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08	21770187	62871243	154277	99	3957											
BAGE2	85319	broad.mit.edu	37	chr21	11058340	11058340	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgaaaggggtaaaggAgagaaatctctttataaaac	17	9	10	5	1	1	2	0	1	1	1	3	4	1	3	0	3	1	2	0	3	7	4	rs28617310	by1000genomes	TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363													6	165					0	0	0	0	C	11058340	A	C	11058340	1	2	17	0	1	0	0	0	0	0	0	0	1296	319	11	5		5	BAGE2	21	11058340	RNA	SNP	A	TCGA-BA-6870-01A-11D-1870-08		11058340	37071555	100	3958											
DOPEY2	9980	broad.mit.edu	37	chr21	37623566	37623566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagaaagaaagcccagcGtcacagtaagatgaaggtaa	18	4	12	7	1	1	4	1	1	0	3	1	5	1	4	1	1	3	3	1	1	5	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr21:37623566G>A	ENST00000399151.3	+	22	5190	c.5105G>A	c.(5104-5106)cGt>cAt	p.R1702H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1702					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGCCCAGCGTCACAGTAAG	0.423													13	77					0	0	0	0	A	37623566	G	A	37623566	3	1	17	1	0	0	0	0	1	0	0	0	4744	1145	40	1	5187	1	DOPEY2	21	37623566	Missense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08	26565226	37623566	10506329	101	3959											
PDE9A	5152	broad.mit.edu	37	chr21	44153465	44153465	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttttctttttcattcctaGagcattcaaaatcaatgaac	12	17	3	9	0	5	2	3	1	2	1	6	2	6	2	1	0	2	1	1	0	5	7			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr21:44153465G>A	ENST00000291539.6	+	7	557		c.e7-1		PDE9A_ENST00000398224.3_Splice_Site|PDE9A_ENST00000398225.3_Splice_Site|PDE9A_ENST00000539837.1_Splice_Site|PDE9A_ENST00000398229.3_Splice_Site|PDE9A_ENST00000398227.3_Splice_Site|PDE9A_ENST00000398232.3_Splice_Site|PDE9A_ENST00000398234.3_Splice_Site|PDE9A_ENST00000328862.6_Splice_Site|PDE9A_ENST00000349112.3_Splice_Site|PDE9A_ENST00000398236.3_Splice_Site|PDE9A_ENST00000380328.2_Splice_Site|PDE9A_ENST00000335512.4_Splice_Site|PDE9A_ENST00000335440.6_Splice_Site|PDE9A_ENST00000470987.1_Splice_Site	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TTCATTCCTAGAGCATTCAAA	0.418													13	36					0	0	0	0	A	44153465	G	A	44153465	5	1	17	1	0	0	0	0	0	0	1	0	11726	956	33	2	603	2	PDE9A	21	44153465	Splice_Site	SNP	G	TCGA-BA-6870-01A-11D-1870-08	6529899	44153465	3976430	102	3960											
NF2	4771	broad.mit.edu	37	chr22	30057252	30057252	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggcttcacatttatgAccctgagaacagactgaccc	10	9	9	13	0	1	4	1	3	0	2	1	5	1	4	3	2	1	1	3	2	2	3			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr22:30057252A>G	ENST00000338641.4	+	8	1175	c.734A>G	c.(733-735)gAc>gGc	p.D245G	NF2_ENST00000361452.4_Missense_Mutation_p.D204G|NF2_ENST00000361676.4_Missense_Mutation_p.D203G|NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Missense_Mutation_p.D162G|NF2_ENST00000347330.5_Missense_Mutation_p.D86G|NF2_ENST00000403999.3_Missense_Mutation_p.D245G|NF2_ENST00000334961.7_Missense_Mutation_p.D162G|NF2_ENST00000403435.1_Missense_Mutation_p.D245G|NF2_ENST00000361166.4_Missense_Mutation_p.D245G|NF2_ENST00000397789.3_Missense_Mutation_p.D245G	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	245	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.D245fs*31(1)|p.N226_E270del(1)|p.L232_P257del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CACATTTATGACCCTGAGAAC	0.498			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				3	157					0	0	0	0	G	30057252	A	G	30057252	3	3	17	1	0	0	0	0	1	0	0	0	10427	275	10	5	764	5	NF2	22	30057252	Missense_Mutation	SNP	A	TCGA-BA-6870-01A-11D-1870-08		30057252	21247314	103	3961											
BMX	660	broad.mit.edu	37	chrX	15567988	15567988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgatgtgggaggtgttcagCctggggaagcagccctatga	8	9	16	8	0	1	2	1	2	0	0	1	4	1	4	2	4	3	2	2	4	2	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:15567988C>A	ENST00000357607.2	+	18	2009	c.1821C>A	c.(1819-1821)agC>agA	p.S607R	BMX_ENST00000348343.6_Missense_Mutation_p.S607R|BMX_ENST00000342014.6_Missense_Mutation_p.S607R			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	607	Protein kinase.				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)					AGGTGTTCAGCCTGGGGAAGC	0.552													4	197					0.00116845	0.00127467	1	0	A	15567988	C	A	15567988	3	1	17	1	0	0	0	0	1	0	0	0	1478	738	26	4	1887	4	BMX	23	15567988	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08		15567988	139702572	104	3962											
FGD1	2245	broad.mit.edu	37	chrX	54496604	54496604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggcacactagccagggCagggggcccagggcagaggc	11	1	17	12	0	0	1	0	0	0	1	0	1	0	1	2	6	2	3	2	6	2	1			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:54496604C>A	ENST00000375135.3	-	4	1679	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	316	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTAGCCAGGGCAGGGGGCCCA	0.657													11	19					4.68919e-08	5.35907e-08	1	0	A	54496604	C	A	54496604	3	1	17	1	0	0	0	0	1	0	0	0	5877	710	25	4	1999	4	FGD1	23	54496604	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	38928616	54496604	100773956	105	3963											
DIAPH2	1730	broad.mit.edu	37	chrX	96213115	96213115	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaaaatgtataaacctGaagtgtccatgaagagaatc	20	8	8	5	0	0	4	0	2	0	2	2	5	1	4	2	0	1	1	2	0	9	2			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:96213115G>T	ENST00000324765.8	+	16	2250	c.1903G>T	c.(1903-1905)Gaa>Taa	p.E635*	DIAPH2_ENST00000373049.4_Nonsense_Mutation_p.E635*|DIAPH2_ENST00000355827.4_Nonsense_Mutation_p.E635*|DIAPH2_ENST00000373054.4_Nonsense_Mutation_p.E631*|DIAPH2_ENST00000373061.3_Nonsense_Mutation_p.E635*			O60879	DIAP2_HUMAN	diaphanous-related formin 2	635	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GTATAAACCTGAAGTGTCCAT	0.398													20	112					1.96292e-10	2.27952e-10	1	0	T	96213115	G	T	96213115	4	4	17	1	0	0	0	0	0	1	0	0	4556	1291	45	2	1965	2	DIAPH2	23	96213115	Nonsense_Mutation	SNP	G	TCGA-BA-6870-01A-11D-1870-08	41716511	96213115	59057445	106	3964											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104728331	104728331	+	Missense_Mutation	SNP	C	C	A																															tcacagacaagcctcccaagCcattgttccccatggagaat																										TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:104728331C>A	ENST00000372582.1	+	6	1480	c.724C>A	c.(724-726)Cca>Aca	p.P242T	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P242T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	242	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCCTCCCAAGCCATTGTTCCC	0.398													21	102					5.35356e-11	6.31895e-11	1	0	A	104728331	C	A	104728331	3	1	17	1	0	0	0	0	1	0	0	0	7715	739	26	4	742	4	IL1RAPL2	23	104728331	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	8515216	104728331	50542229	107	3965	42	2									
IL1RAPL2	26280	broad.mit.edu	37	chrX	104728332	104728332	+	Missense_Mutation	SNP	C	C	A																															cacagacaagcctcccaagcCattgttccccatggagaatc																										TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:104728332C>A	ENST00000372582.1	+	6	1481	c.725C>A	c.(724-726)cCa>cAa	p.P242Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P242Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	242	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCTCCCAAGCCATTGTTCCCC	0.398													21	101					5.35356e-11	6.31895e-11	1	0	A	104728332	C	A	104728332	3	1	17	1	0	0	0	0	1	0	0	0	7715	594	21	4	743	4	IL1RAPL2	23	104728332	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	1	104728332	50542228	108	3966	42	2									
GLUD2	2747	broad.mit.edu	37	chrX	120182678	120182678	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgactgtgacatactgatCccagctgccactgagaagca	11	8	10	12	1	0	3	0	3	0	1	2	5	1	3	2	0	4	2	2	0	2	1			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:120182678C>A	ENST00000328078.1	+	1	1217	c.1140C>A	c.(1138-1140)atC>atA	p.I380I		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	380					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACATACTGATCCCAGCTGCCA	0.507													64	220					7.05995e-25	8.99675e-25	1	0	A	120182678	C	A	120182678	2	1	17	1	0	0	0	0	0	0	0	1	6528	845	30	2		2	GLUD2	23	120182678	Silent	SNP	C	TCGA-BA-6870-01A-11D-1870-08	15454346	120182678	35087882	109	3967											
STAG2	10735	broad.mit.edu	37	chrX	123200245	123200245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtactcactatgtaatcCtttggcaacttgctaagata	12	14	7	8	0	1	1	1	0	0	1	2	1	2	1	1	1	3	4	1	1	6	7			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:123200245C>A	ENST00000371160.1	+	23	2514	c.2224C>A	c.(2224-2226)Ctt>Att	p.L742I	STAG2_ENST00000371157.3_Missense_Mutation_p.L742I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.L673I|STAG2_ENST00000218089.9_Missense_Mutation_p.L742I|STAG2_ENST00000371144.3_Missense_Mutation_p.L742I|STAG2_ENST00000371145.3_Missense_Mutation_p.L742I			Q8N3U4	STAG2_HUMAN	stromal antigen 2	742					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTATGTAATCCTTTGGCAACT	0.328													13	110					1.5739e-10	1.84261e-10	1	0	A	123200245	C	A	123200245	3	1	17	1	0	0	0	0	1	0	0	0	15333	681	24	4	2306	4	STAG2	23	123200245	Missense_Mutation	SNP	C	TCGA-BA-6870-01A-11D-1870-08	3017567	123200245	32070315	110	3968											
ATP11C	286410	broad.mit.edu	37	chrX	138820082	138820084	+	In_Frame_Del	DEL	CTT	CTT	-																															acttagttcttaccctggcaCttcttcttcttacattcttt																										TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:138820082_138820084delCTT	ENST00000370557.1	-	28	4297_4299	c.3270_3272delAAG	c.(3268-3273)agt>ag	p.RS1090del	ATP11C_ENST00000370543.1_In_Frame_Del_p.RS1096del|ATP11C_ENST00000359686.2_In_Frame_Del_p.RS1096del|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_In_Frame_Del_p.RS1096del|ATP11C_ENST00000327569.3_In_Frame_Del_p.RS1096del			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1096					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TACCCTGGCACTTCTTCTTCTTA	0.355													15	149	---	---	---	---					-	138820084	CTT	-	138820082	7	5	17	1	0	1	0	1	0	0	0	0	1125	565	20	0	183	0	ATP11C	23	138820082	In_Frame_Del	DEL	CTT	TCGA-BA-6870-01A-11D-1870-08	15619837	138820082	16450478	111	3969											
HCFC1	3054	broad.mit.edu	37	chrX	153223611	153223611	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacttgtgcactgtgatgatAgggcgggtagacgtgttggt	7	12	17	5	2	0	3	0	2	0	1	0	4	0	3	0	3	1	3	0	3	2	4			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:153223611A>T	ENST00000310441.7	-	11	2859	c.1893T>A	c.(1891-1893)ccT>ccA	p.P631P	HCFC1_ENST00000369984.4_Silent_p.P631P|HCFC1_ENST00000354233.3_Silent_p.P562P	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	631	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGATGATAGGGCGGGTAG	0.622													18	67					0	0	0	0	T	153223611	A	T	153223611	2	4	17	1	0	0	0	0	0	0	0	1	7041	407	15	5		5	HCFC1	23	153223611	Silent	SNP	A	TCGA-BA-6870-01A-11D-1870-08	14403529	153223611	2046949	112	3970											
AIM1L	55057	broad.mit.edu	37	chr1	26658052	26658052	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgagagtggggaactcGccctcagagagaatgtgctg	9	7	16	9	2	1	3	1	1	0	3	2	6	1	4	2	2	2	1	2	2	2	0			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:26658052G>A	ENST00000527815.1	-	14	1669	c.1620C>T	c.(1618-1620)ggC>ggT	p.G540G	AIM1L_ENST00000308182.5_Silent_p.G369G	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	369	Ricin B-type lectin.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGGGGAACTCGCCCTCAGAGA	0.567													18	29					0	0	0	0	A	26658052	G	A	26658052	2	1	18	1	0	0	0	0	0	0	0	1	431	1074	38	1		1	AIM1L	1	26658052	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08		26658052	222592569	1	3971											
RCC1	1104	broad.mit.edu	37	chr1	28864461	28864461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaccgtgtggtcttatCtgtgtccagcgggggccagc	6	9	16	10	2	2	1	0	0	2	1	3	2	3	1	3	4	3	0	3	4	2	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:28864461C>A	ENST00000373833.6	+	13	1493	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	RCC1_ENST00000398958.2_Missense_Mutation_p.S403Y|RCC1_ENST00000373831.3_Missense_Mutation_p.S434Y|RCC1_ENST00000373832.1_Missense_Mutation_p.S403Y			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	403					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTCTTATCTGTGTCCAGC	0.577													5	20					0.000602214	0.000642586	1	0	A	28864461	C	A	28864461	3	1	18	1	0	0	0	0	1	0	0	0	13255	913	32	2	1339	2	RCC1	1	28864461	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	2206409	28864461	220386160	2	3972											
PTPRU	10076	broad.mit.edu	37	chr1	29609426	29609426	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagcctaggaaggcctatCtcatctacttccaggcagca	10	10	9	12	0	2	1	1	1	2	0	4	2	3	2	3	3	3	2	3	3	4	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:29609426C>G	ENST00000356870.3	+	12	2217	c.2107C>G	c.(2107-2109)Ctc>Gtc	p.L703V	PTPRU_ENST00000428026.2_Missense_Mutation_p.L703V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.L703V|PTPRU_ENST00000323874.8_Missense_Mutation_p.L703V|PTPRU_ENST00000460170.2_Missense_Mutation_p.L703V|PTPRU_ENST00000345512.3_Missense_Mutation_p.L703V	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	703					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GAAGGCCTATCTCATCTACTT	0.617													12	53					0	0	0	0	G	29609426	C	G	29609426	3	3	18	1	0	0	0	0	1	0	0	0	12895	913	32	2	2153	2	PTPRU	1	29609426	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	744965	29609426	219641195	3	3973											
C1orf94	84970	broad.mit.edu	37	chr1	34666533	34666533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaacctacatgtccagcCgagaagaacttgctctatga	15	8	8	10	1	1	4	0	1	1	3	2	5	2	4	3	0	5	1	3	0	6	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:34666533C>T	ENST00000488417.1	+	3	1290	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	C1orf94_ENST00000373374.3_Silent_p.A200A	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	200							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CATGTCCAGCCGAGAAGAACT	0.592													13	27					0	0	0	0	T	34666533	C	T	34666533	2	4	18	1	0	0	0	0	0	0	0	1	2091	639	23	1		1	C1orf94	1	34666533	Silent	SNP	C	TCGA-BA-6871-01A-11D-1870-08	5057107	34666533	214584088	4	3974											
INPP5B	3633	broad.mit.edu	37	chr1	38357097	38357097	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cataggcactcccttcccatTtggtctcaaaccatcaaagt	11	11	5	14	0	2	0	2	0	1	0	5	0	4	0	3	2	1	1	3	2	3	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:38357097T>A	ENST00000373023.2	-	8	895	c.802A>T	c.(802-804)Aat>Tat	p.N268Y	INPP5B_ENST00000373026.1_Missense_Mutation_p.N268Y|INPP5B_ENST00000373024.3_Missense_Mutation_p.N188Y|INPP5B_ENST00000373027.1_Missense_Mutation_p.N24Y	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	268					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTCCCATTTGGTCTCAAA	0.448													44	87					0	0	0	0	A	38357097	T	A	38357097	3	1	18	1	0	0	0	0	1	0	0	0	7808	1841	64	5	2247	5	INPP5B	1	38357097	Missense_Mutation	SNP	T	TCGA-BA-6871-01A-11D-1870-08	3690564	38357097	210893524	5	3975											
FHL3	2275	broad.mit.edu	37	chr1	38463526	38463526	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctgatcacggtatgtcactCcaccctgtgtcagcgtctgt	6	12	10	13	2	4	1	3	1	1	0	5	1	5	1	2	1	1	2	2	1	1	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:38463526C>G	ENST00000373016.3	-	5	686	c.518G>C	c.(517-519)gGa>gCa	p.G173A	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	173	LIM zinc-binding 3.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTATGTCACTCCACCCTGTGT	0.607													9	31					0	0	0	0	G	38463526	C	G	38463526	3	3	18	1	0	0	0	0	1	0	0	0	5925	855	30	2	332	2	FHL3	1	38463526	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	106429	38463526	210787095	6	3976											
PARS2	25973	broad.mit.edu	37	chr1	55224719	55224719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacgagacagcagcaggCgccgccctcttcttggggca	9	5	12	15	3	2	1	0	0	2	1	2	2	2	1	2	3	2	3	2	3	0	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:55224719C>T	ENST00000371279.3	-	2	198	c.116G>A	c.(115-117)cGc>cAc	p.R39H		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	39					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CAGCAGCAGGCGCCGCCCTCT	0.607													4	20					0	0	0	0	T	55224719	C	T	55224719	3	4	18	1	0	0	0	0	1	0	0	0	11538	768	27	1	1315	1	PARS2	1	55224719	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	16761193	55224719	194025902	7	3977											
SGIP1	84251	broad.mit.edu	37	chr1	67154866	67154866	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcgaccagccactcctttgGttccttgcagaagtaccact	8	11	7	15	1	0	1	0	0	0	1	3	2	2	1	5	1	3	3	5	1	2	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:67154866G>C	ENST00000371037.4	+	16	1428	c.1351G>C	c.(1351-1353)Gtt>Ctt	p.V451L	SGIP1_ENST00000371035.3_Missense_Mutation_p.V241L|SGIP1_ENST00000371036.3_Missense_Mutation_p.V251L|SGIP1_ENST00000371039.1_Missense_Mutation_p.V252L|SGIP1_ENST00000237247.6_Missense_Mutation_p.V482L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	451	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CACTCCTTTGGTTCCTTGCAG	0.532													87	159					0	0	0	0	C	67154866	G	C	67154866	3	2	18	1	0	0	0	0	1	0	0	0	14293	1261	44	4	1413	4	SGIP1	1	67154866	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	11930147	67154866	182095755	8	3978											
OVGP1	5016	broad.mit.edu	37	chr1	111957388	111957388	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgactgatatgtttcTggaggggacagtcacctttt	8	13	14	6	0	2	2	1	2	1	0	2	4	2	4	1	5	0	1	1	5	1	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:111957388T>C	ENST00000369732.3	-	11	1790	c.1735A>G	c.(1735-1737)Aga>Gga	p.R579G		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	579					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GATATGTTTCTGGAGGGGACA	0.522													34	61					0	0	0	0	C	111957388	T	C	111957388	3	2	18	1	0	0	0	0	1	0	0	0	11396	1588	55	5	305	5	OVGP1	1	111957388	Missense_Mutation	SNP	T	TCGA-BA-6871-01A-11D-1870-08	44802522	111957388	137293233	9	3979											
TBX15	6913	broad.mit.edu	37	chr1	119474283	119474283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atttcagttccaatatcatgGaaccgcttccagaggtcagc	11	11	8	11	1	3	1	3	0	0	1	5	2	5	2	3	2	2	2	3	2	3	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:119474283G>A	ENST00000369429.3	-	2	387	c.378C>T	c.(376-378)ttC>ttT	p.F126F	TBX15_ENST00000207157.3_Silent_p.F20F			Q96SF7	TBX15_HUMAN	T-box 15	126						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CAATATCATGGAACCGCTTCC	0.507													19	32					0	0	0	0	A	119474283	G	A	119474283	2	1	18	1	0	0	0	0	0	0	0	1	15746	1165	41	2		2	TBX15	1	119474283	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08	7516895	119474283	129776338	10	3980											
ZBTB7B	51043	broad.mit.edu	37	chr1	154987574	154987574	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attctgcagggcagtgggctAgaagctcccagcccggacga	9	6	14	12	2	1	1	0	0	1	1	2	3	2	2	2	3	3	4	2	3	2	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:154987574A>C	ENST00000368426.3	+	3	575	c.438A>C	c.(436-438)ctA>ctC	p.L146L	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000292176.2_Silent_p.L146L|ZBTB7B_ENST00000417934.2_Silent_p.L180L|ZBTB7B_ENST00000535420.1_Silent_p.L146L	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	146					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGTGGGCTAGAAGCTCCCA	0.627													53	28					0	0	0	0	C	154987574	A	C	154987574	2	2	18	1	0	0	0	0	0	0	0	1	17649	407	15	5		5	ZBTB7B	1	154987574	Silent	SNP	A	TCGA-BA-6871-01A-11D-1870-08	35513291	154987574	94263047	11	3981											
KIFAP3	22920	broad.mit.edu	37	chr1	169923234	169923234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgggacttatggctccttCagaggcaattaatccatcta	11	12	8	10	1	2	1	1	0	1	1	5	2	4	2	2	3	0	2	2	3	4	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:169923234C>T	ENST00000367765.1	-	19	3572	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	KIFAP3_ENST00000367767.1_Missense_Mutation_p.E687K|KIFAP3_ENST00000361580.2_Missense_Mutation_p.E731K|KIFAP3_ENST00000538366.1_Missense_Mutation_p.E653K|KIFAP3_ENST00000540905.1_Missense_Mutation_p.E433K	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	731					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGGCTCCTTCAGAGGCAATT	0.358													41	186					0	0	0	0	T	169923234	C	T	169923234	3	4	18	1	0	0	0	0	1	0	0	0	8362	835	29	2	195	2	KIFAP3	1	169923234	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	14935660	169923234	79327387	12	3982											
GPR25	2848	broad.mit.edu	37	chr1	200843070	200843070	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccttcgtcaacagctgcgCcaacccgctcatctacctcc	7	8	7	19	3	3	0	2	0	1	0	5	0	4	0	5	1	5	2	5	1	3	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:200843070C>G	ENST00000304244.2	+	1	988	c.905C>G	c.(904-906)gCc>gGc	p.A302G		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	302						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						AACAGCTGCGCCAACCCGCTC	0.731													9	88					0	0	0	0	G	200843070	C	G	200843070	3	3	18	1	0	0	0	0	1	0	0	0	6732	739	26	4	907	4	GPR25	1	200843070	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	30919836	200843070	48407551	13	3983											
TMEM81	388730	broad.mit.edu	37	chr1	205052694	205052694	+	Frame_Shift_Del	DEL	C	C	-																															gaagctgtcactgctgcaggCccccccttagcgcacagagg																										TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:205052694delC	ENST00000367167.3	-	1	951	c.755delG	c.(754-756)gcfs	p.G252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCTGCAGGCCCCCCCTTAG	0.537													7	180	---	---	---	---					-	205052694	C	-	205052694	7	5	18	1	0	1	0	1	0	0	0	0	16299	739	26	0	16	0	TMEM81	1	205052694	Frame_Shift_Del	DEL	C	TCGA-BA-6871-01A-11D-1870-08	4209624	205052694	44197927	14	3984											
USH2A	7399	broad.mit.edu	37	chr1	215824103	215824103	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggttctgcaccatgtcCagctactgggggcttttcct	4	12	11	14	1	1	0	0	0	1	0	3	0	3	0	4	3	3	4	4	3	1	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:215824103C>T	ENST00000366943.2	-	65	14560	c.14174G>A	c.(14173-14175)tGg>tAg	p.W4725*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.W4725*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4725	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCACCATGTCCAGCTACTGGG	0.522										HNSCC(13;0.011)			62	263					0	0	0	0	T	215824103	C	T	215824103	4	4	18	1	0	0	0	0	0	1	0	0	17132	595	21	4	1466	4	USH2A	1	215824103	Nonsense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	10771409	215824103	33426518	15	3985											
USH2A	7399	broad.mit.edu	37	chr1	215940058	215940058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgtctgacctagaaaaGgctcgcttgaagtgcaccca	11	8	11	11	1	1	3	0	2	1	1	2	3	1	3	2	1	1	4	2	1	4	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:215940058G>A	ENST00000366943.2	-	56	11398	c.11012C>T	c.(11011-11013)cCt>cTt	p.P3671L	USH2A_ENST00000307340.3_Missense_Mutation_p.P3671L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3671	Fibronectin type-III 21.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTAGAAAAGGCTCGCTTGA	0.438										HNSCC(13;0.011)			168	23					0	0	0	0	A	215940058	G	A	215940058	3	1	18	1	0	0	0	0	1	0	0	0	17132	1000	35	4	4664	4	USH2A	1	215940058	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	115955	215940058	33310563	16	3986											
TPO	7173	broad.mit.edu	37	chr2	1460007	1460007	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgccttcgggggaggggctGactgccagatgacttgtgag	6	9	17	9	1	0	4	0	3	0	1	1	5	0	5	2	4	2	1	2	4	0	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:1460007G>C	ENST00000345913.4	+	7	863	c.772G>C	c.(772-774)Gac>Cac	p.D258H	TPO_ENST00000349624.3_Missense_Mutation_p.D258H|TPO_ENST00000346956.3_Missense_Mutation_p.D258H|TPO_ENST00000382198.1_Missense_Mutation_p.D258H|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.D258H|TPO_ENST00000337415.3_Missense_Mutation_p.D258H|TPO_ENST00000329066.4_Missense_Mutation_p.D258H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	258					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAGGGGCTGACTGCCAGAT	0.463													9	40					0	0	0	0	C	1460007	G	C	1460007	3	2	18	1	0	0	0	0	1	0	0	0	16505	1290	45	2	794	2	TPO	2	1460007	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08		1460007	241739366	17	3987											
IFT172	26160	broad.mit.edu	37	chr2	27677472	27677472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatatttgagatgaacctCgggggttttgtgcttgaggg	8	13	15	5	1	0	3	0	3	0	1	1	4	0	3	1	3	3	3	1	3	2	5	rs144121974	byFrequency	TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:27677472C>T	ENST00000260570.3	-	31	3530	c.3427G>A	c.(3427-3429)Gag>Aag	p.E1143K		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1143					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGATGAACCTCGGGGGTTTTG	0.493													14	43					0	0	0	0	T	27677472	C	T	27677472	3	4	18	1	0	0	0	0	1	0	0	0	7610	893	31	1	1894	1	IFT172	2	27677472	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	26217465	27677472	215521901	18	3988											
ALMS1	7840	broad.mit.edu	37	chr2	73716878	73716878	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctgaacatccacaactaGatagacacccttgtgctttc	11	12	5	13	0	1	3	0	1	1	2	3	3	2	3	2	0	3	1	2	0	4	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:73716878G>C	ENST00000264448.6	+	10	7900	c.7789G>C	c.(7789-7791)Gat>Cat	p.D2597H	ALMS1_ENST00000409009.1_Missense_Mutation_p.D2555H	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2597					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCCACAACTAGATAGACACCC	0.473													13	46					0	0	0	0	C	73716878	G	C	73716878	3	2	18	1	0	0	0	0	1	0	0	0	535	942	33	2	7827	2	ALMS1	2	73716878	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	46039406	73716878	169482495	19	3989											
CTNNA2	1496	broad.mit.edu	37	chr2	80085146	80085146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctgtcttccaggtgagacGatgcggatcgcctcctccga	6	10	12	13	4	2	1	0	1	2	1	6	5	5	2	4	2	1	0	4	2	0	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:80085146G>A	ENST00000466387.1	+	8	1030	c.306G>A	c.(304-306)acG>acA	p.T102T	CTNNA2_ENST00000361291.4_Silent_p.T136T|CTNNA2_ENST00000496558.1_Silent_p.T102T|CTNNA2_ENST00000541047.1_Silent_p.T102T|CTNNA2_ENST00000402739.4_Silent_p.T102T|CTNNA2_ENST00000540488.1_Silent_p.T102T			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	102					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAGGTGAGACGATGCGGATCG	0.552													28	87					0	0	0	0	A	80085146	G	A	80085146	2	1	18	1	0	0	0	0	0	0	0	1	4045	1045	37	1		1	CTNNA2	2	80085146	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08	6368268	80085146	163114227	20	3990											
KDM3A	55818	broad.mit.edu	37	chr2	86716520	86716520	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgcagctaatgtcatggtCtatgtgggaattcccaaagg	11	11	12	7	0	2	0	1	0	1	0	3	2	3	1	1	3	2	2	1	3	4	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:86716520C>G	ENST00000409556.1	+	23	3758	c.3393C>G	c.(3391-3393)gtC>gtG	p.V1131V	KDM3A_ENST00000409064.1_Silent_p.V1131V|KDM3A_ENST00000542128.1_Silent_p.V1079V|KDM3A_ENST00000312912.5_Silent_p.V1131V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1131	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ATGTCATGGTCTATGTGGGAA	0.428													20	43					0	0	0	0	G	86716520	C	G	86716520	2	3	18	1	0	0	0	0	0	0	0	1	8179	900	32	2		2	KDM3A	2	86716520	Silent	SNP	C	TCGA-BA-6871-01A-11D-1870-08	6631374	86716520	156482853	21	3991											
MYO7B	4648	broad.mit.edu	37	chr2	128394476	128394476	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcagccgcctgctgtgCgagacctccctggtgagctc	4	8	14	15	3	0	2	0	1	0	1	2	3	1	2	4	2	4	3	4	2	0	0			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:128394476C>A	ENST00000389524.4	+	46	6293	c.6240C>A	c.(6238-6240)tgC>tgA	p.C2080*	MYO7B_ENST00000409090.1_Nonsense_Mutation_p.C932*|MYO7B_ENST00000409816.2_Nonsense_Mutation_p.C2079*|MYO7B_ENST00000428314.1_Nonsense_Mutation_p.C2079*			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2079	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCTGCTGTGCGAGACCTCCC	0.612													3	40					0.004672	0.00490303	1	0	A	128394476	C	A	128394476	4	1	18	1	0	0	0	0	0	1	0	0	10153	776	27	3	6415	3	MYO7B	2	128394476	Nonsense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	41677956	128394476	114804897	22	3992											
THSD7B	80731	broad.mit.edu	37	chr2	138414381	138414381	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaggagactgccatttaaCagaatggtcagagtggagca	13	8	12	8	0	1	3	1	0	0	3	2	5	2	4	2	3	3	1	2	3	2	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:138414381C>G	ENST00000409968.1	+	23	4299	c.4121C>G	c.(4120-4122)aCa>aGa	p.T1374R	THSD7B_ENST00000413152.2_Missense_Mutation_p.T1346R|THSD7B_ENST00000272643.3_Missense_Mutation_p.T1377R|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGCCATTTAACAGAATGGTCA	0.473													5	32					0	0	0	0	G	138414381	C	G	138414381	3	3	18	1	0	0	0	0	1	0	0	0	15974	478	17	4	4119	4	THSD7B	2	138414381	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	10019905	138414381	104784992	23	3993											
LRP1B	53353	broad.mit.edu	37	chr2	141032089	141032089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttggtccttcatagcgcGttggacagacacattcaaca	11	12	8	10	2	2	1	2	0	0	1	3	2	3	2	1	2	2	1	1	2	2	6			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:141032089G>A	ENST00000389484.3	-	85	14017	c.13046C>T	c.(13045-13047)aCg>aTg	p.T4349M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4349	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCATAGCGCGTTGGACAGAC	0.423										TSP Lung(27;0.18)			17	32					0	0	0	0	A	141032089	G	A	141032089	3	1	18	1	0	0	0	0	1	0	0	0	9019	1145	40	1	781	1	LRP1B	2	141032089	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	2617708	141032089	102167284	24	3994											
LRP1B	53353	broad.mit.edu	37	chr2	141116452	141116452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccattgcacatttgctccGactgtaggcatattctgtta	8	15	7	11	1	1	0	0	0	1	0	3	1	3	0	2	1	2	5	2	1	3	6			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:141116452G>A	ENST00000389484.3	-	73	12166	c.11195C>T	c.(11194-11196)tCg>tTg	p.S3732L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3732	LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTTGCTCCGACTGTAGGCA	0.388										TSP Lung(27;0.18)			34	42					0	0	0	0	A	141116452	G	A	141116452	3	1	18	1	0	0	0	0	1	0	0	0	9019	1059	37	1	2680	1	LRP1B	2	141116452	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	84363	141116452	102082921	25	3995											
ZSWIM2	151112	broad.mit.edu	37	chr2	187712479	187712479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacaaagttcccctcctttcGgaaatgtggaacagttacaa	13	11	7	10	1	0	0	0	0	0	0	3	2	2	2	3	2	3	2	3	2	6	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:187712479G>A	ENST00000295131.2	-	2	248	c.209C>T	c.(208-210)cCg>cTg	p.P70L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	70					apoptosis		zinc ion binding	p.P70Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCTCCTTTCGGAAATGTGGA	0.348													25	35					0	0	0	0	A	187712479	G	A	187712479	3	1	18	1	0	0	0	0	1	0	0	0	18332	1116	39	1	1724	1	ZSWIM2	2	187712479	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	46596027	187712479	55486894	26	3996											
ALPPL2	251	broad.mit.edu	37	chr2	233272041	233272041	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggatcctaaaagggcAgaagaaggacaaactggggc	15	4	14	8	0	0	2	0	0	0	2	1	4	1	4	2	5	2	1	2	5	5	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:233272041A>G	ENST00000295453.3	+	3	282	c.230A>G	c.(229-231)cAg>cGg	p.Q77R		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	77					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CTAAAAGGGCAGAAGAAGGAC	0.587													17	36					0	0	0	0	G	233272041	A	G	233272041	3	3	18	1	0	0	0	0	1	0	0	0	549	188	7	5	240	5	ALPPL2	2	233272041	Missense_Mutation	SNP	A	TCGA-BA-6871-01A-11D-1870-08	45559562	233272041	9927332	27	3997											
CHRNG	1146	broad.mit.edu	37	chr2	233410382	233410382	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaaccgggtgccggccctgCcattccctggagatccacgc	7	6	11	17	3	0	1	0	0	0	1	2	2	2	1	6	3	3	0	6	3	1	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:233410382C>G	ENST00000389494.3	+	12	1531	c.1510C>G	c.(1510-1512)Cca>Gca	p.P504A	CHRNG_ENST00000389492.3_Missense_Mutation_p.P452A	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	504					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GCCGGCCCTGCCATTCCCTGG	0.617													17	43					0	0	0	0	G	233410382	C	G	233410382	3	3	18	1	0	0	0	0	1	0	0	0	3425	739	26	4	1556	4	CHRNG	2	233410382	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	138341	233410382	9788991	28	3998											
ATG16L1	55054	broad.mit.edu	37	chr2	234202923	234202923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatccatcaatgcggtggCgtggtcgccctctggctcgc	4	10	12	15	4	3	0	2	0	1	0	6	0	4	0	2	4	1	1	2	4	1	0			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:234202923C>T	ENST00000392017.4	+	18	2008	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	ATG16L1_ENST00000347464.5_Missense_Mutation_p.A421V|ATG16L1_ENST00000392018.1_Missense_Mutation_p.A601V|ATG16L1_ENST00000392020.4_Missense_Mutation_p.A565V|ATG16L1_ENST00000373525.5_Missense_Mutation_p.A405V	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	584					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		AATGCGGTGGCGTGGTCGCCC	0.537													14	25					0	0	0	0	T	234202923	C	T	234202923	3	4	18	1	0	0	0	0	1	0	0	0	1095	768	27	1	1821	1	ATG16L1	2	234202923	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	792541	234202923	8996450	29	3999											
UGT1A7	54577	broad.mit.edu	37	chr2	234591112	234591112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggaatattttgccactatCttgaagaaggtgcacagtgc	11	11	12	7	0	1	2	0	1	1	1	1	3	1	3	1	3	3	1	1	3	5	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:234591112C>G	ENST00000373426.3	+	1	529	c.529C>G	c.(529-531)Ctt>Gtt	p.L177V	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTGCCACTATCTTGAAGAAGG	0.483													56	100					0	0	0	0	G	234591112	C	G	234591112	3	3	18	1	0	0	0	0	1	0	0	0	17046	913	32	2	531	2	UGT1A7	2	234591112	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	388189	234591112	8608261	30	4000											
DOCK3	1795	broad.mit.edu	37	chr3	51317591	51317591	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagatgtgtgacacccatTtccagcacctcctggacaac	10	8	8	15	0	0	2	0	1	0	1	2	3	2	3	5	1	2	1	5	1	1	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:51317591T>C	ENST00000266037.9	+	27	2901	c.2878T>C	c.(2878-2880)Ttc>Ctc	p.F960L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	960						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGACACCCATTTCCAGCACCT	0.532													10	17					0	0	0	0	C	51317591	T	C	51317591	3	2	18	1	0	0	0	0	1	0	0	0	4724	1841	64	5	2984	5	DOCK3	3	51317591	Missense_Mutation	SNP	T	TCGA-BA-6871-01A-11D-1870-08		51317591	146704839	31	4001											
ROBO2	6092	broad.mit.edu	37	chr3	77600053	77600053	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcacaatcaccaacattCaacgttccgacgcgggttac	12	8	6	15	4	3	0	3	0	0	0	4	1	4	0	3	1	3	2	3	1	4	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:77600053C>G	ENST00000461745.1	+	8	2044	c.1144C>G	c.(1144-1146)Caa>Gaa	p.Q382E	ROBO2_ENST00000487694.3_Missense_Mutation_p.Q398E|ROBO2_ENST00000332191.8_Missense_Mutation_p.Q382E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	382	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CACCAACATTCAACGTTCCGA	0.488													16	34					0	0	0	0	G	77600053	C	G	77600053	3	3	18	1	0	0	0	0	1	0	0	0	13599	827	29	2	1176	2	ROBO2	3	77600053	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	26282462	77600053	120422377	32	4002											
SLC15A2	6565	broad.mit.edu	37	chr3	121646672	121646672	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcagttgcggcagctgtaGagataaaaataaatgtgagt	14	11	12	4	1	0	2	0	1	0	1	0	3	0	2	0	1	3	5	0	1	6	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:121646672G>C	ENST00000489711.1	+	14	1580	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q	SLC15A2_ENST00000295605.2_Missense_Mutation_p.E367Q	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	398					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)	GGCAGCTGTAGAGATAAAAAT	0.388													15	43					0	0	0	0	C	121646672	G	C	121646672	3	2	18	1	0	0	0	0	1	0	0	0	14487	943	33	2	1246	2	SLC15A2	3	121646672	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	44046619	121646672	76375758	33	4003											
DHX36	170506	broad.mit.edu	37	chr3	154022638	154022638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcaatgttgcactcatCaatattactttcaagtcaga	13	14	5	9	0	5	1	5	0	0	1	5	1	5	1	0	0	2	3	0	0	5	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:154022638C>A	ENST00000496811.1	-	8	1172	c.1092G>T	c.(1090-1092)ttG>ttT	p.L364F	DHX36_ENST00000544526.1_Missense_Mutation_p.L364F|DHX36_ENST00000308361.6_Missense_Mutation_p.L364F|DHX36_ENST00000329463.5_Missense_Mutation_p.L364F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	364	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTGCACTCATCAATATTACTT	0.289													10	78					0.000978159	0.00103794	1	0	A	154022638	C	A	154022638	3	1	18	1	0	0	0	0	1	0	0	0	4546	825	29	2	2006	2	DHX36	3	154022638	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	32375966	154022638	43999792	34	4004											
IFT80	57560	broad.mit.edu	37	chr3	159997002	159997002	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaacaaagcgacaaagtctCacagcatcttcccattttga	14	11	5	11	1	2	1	1	1	2	0	4	2	3	1	1	0	3	1	1	0	3	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:159997002C>G	ENST00000326448.7	-	16	2247	c.1815G>C	c.(1813-1815)gtG>gtC	p.V605V	IFT80_ENST00000483465.1_Silent_p.V468V|RP11-432B6.3_ENST00000483754.1_Silent_p.V776V|IFT80_ENST00000496589.1_Silent_p.V468V	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	605						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GACAAAGTCTCACAGCATCTT	0.343													13	117					0	0	0	0	G	159997002	C	G	159997002	2	3	18	1	0	0	0	0	0	0	0	1	7617	813	29	2		2	IFT80	3	159997002	Silent	SNP	C	TCGA-BA-6871-01A-11D-1870-08	5974364	159997002	38025428	35	4005											
SMC4	10051	broad.mit.edu	37	chr3	160141353	160141353	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gataccttagtagctgacaaCttggatcaagccacaagagt	14	9	9	9	0	1	2	1	1	0	1	1	4	1	3	2	1	4	2	2	1	6	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:160141353C>G	ENST00000357388.3	+	14	2611	c.2160C>G	c.(2158-2160)aaC>aaG	p.N720K	SMC4_ENST00000462787.1_Missense_Mutation_p.N720K|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.N720K|SMC4_ENST00000344722.5_Missense_Mutation_p.N720K|SMC4_ENST00000469762.1_Missense_Mutation_p.N695K	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	720	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAGCTGACAACTTGGATCAAG	0.343													53	389					0	0	0	0	G	160141353	C	G	160141353	3	3	18	1	0	0	0	0	1	0	0	0	14873	564	20	4	2210	4	SMC4	3	160141353	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	144351	160141353	37881077	36	4006											
SI	6476	broad.mit.edu	37	chr3	164733816	164733817	+	Frame_Shift_Ins	INS	-	-	T																															gtcctggaatgcttcaccaaINSttgtaaagtctagctgcctt																										TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:164733816_164733817insT	ENST00000264382.3	-	32	3873_3874	c.3811_3812insA	c.(3811-3813)tggfs	p.W1271fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1271	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCTTCACCAATTGTAAAGTCT	0.366										HNSCC(35;0.089)			162	289	---	---	---	---					T	164733817	-	T	164733816	7	5	18	1	0	1	1	0	0	0	0	0	14385	101	4	0	1739	0	SI	3	164733816	Frame_Shift_Ins	INS	-	TCGA-BA-6871-01A-11D-1870-08	4592463	164733816	33288614	37	4007											
SLITRK3	22865	broad.mit.edu	37	chr3	164905937	164905937	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacaaatcccactgtgcaGggggcaggctgtggcctctc	7	8	12	14	0	1	0	0	0	1	0	4	0	3	0	3	4	1	3	3	4	1	0			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:164905937G>T	ENST00000475390.1	-	2	3125	c.2682C>A	c.(2680-2682)ccC>ccA	p.P894P	SLITRK3_ENST00000241274.3_Silent_p.P894P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	894						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCACTGTGCAGGGGGCAGGCT	0.552										HNSCC(40;0.11)			44	59					1.7489e-18	2.02449e-18	1	0	T	164905937	G	T	164905937	2	4	18	1	0	0	0	0	0	0	0	1	14832	987	35	4		4	SLITRK3	3	164905937	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08	172121	164905937	33116493	38	4008											
ZNF639	51193	broad.mit.edu	37	chr3	179052100	179052100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaagatcttaaaattcatCtagatttcaagcattcagct	14	15	5	7	0	5	3	3	1	2	2	5	3	5	3	0	0	2	2	0	0	5	6			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:179052100C>G	ENST00000326361.3	+	7	1793	c.1348C>G	c.(1348-1350)Cta>Gta	p.L450V	ZNF639_ENST00000496856.1_Missense_Mutation_p.L450V|ZNF639_ENST00000484866.1_Missense_Mutation_p.L450V	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	450	Interaction with CTNNA2.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TAAAATTCATCTAGATTTCAA	0.323													32	162					0	0	0	0	G	179052100	C	G	179052100	3	3	18	1	0	0	0	0	1	0	0	0	18151	912	32	2	1362	2	ZNF639	3	179052100	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	14146163	179052100	18970330	39	4009											
YEATS2	55689	broad.mit.edu	37	chr3	183493712	183493712	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtatttttagatctccagtCtggctcagctgccagtggtg	6	15	11	9	0	3	1	1	0	2	1	4	1	3	1	2	2	2	3	2	2	2	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:183493712C>G	ENST00000305135.5	+	18	2573	c.2378C>G	c.(2377-2379)tCt>tGt	p.S793C		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	793					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GATCTCCAGTCTGGCTCAGCT	0.522													20	146					0	0	0	0	G	183493712	C	G	183493712	3	3	18	1	0	0	0	0	1	0	0	0	17568	913	32	2	2444	2	YEATS2	3	183493712	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	4441612	183493712	14528718	40	4010											
CHRD	8646	broad.mit.edu	37	chr3	184102418	184102418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaccaaggacttcccaGacggagagcttcgggggcac	9	5	15	12	2	0	2	0	0	0	2	2	4	1	3	2	5	1	3	2	5	1	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:184102418G>T	ENST00000204604.1	+	13	1780	c.1534G>T	c.(1534-1536)Gac>Tac	p.D512Y	CHRD_ENST00000348986.3_Missense_Mutation_p.D472Y|CHRD_ENST00000545352.1_Missense_Mutation_p.D142Y|CHRD_ENST00000450923.1_Missense_Mutation_p.D512Y|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	512	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGACTTCCCAGACGGAGAGCT	0.637													23	90					1.50039e-11	1.69571e-11	1	0	T	184102418	G	T	184102418	3	4	18	1	0	0	0	0	1	0	0	0	3401	942	33	2	1584	2	CHRD	3	184102418	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	608706	184102418	13920012	41	4011											
PAK2	5062	broad.mit.edu	37	chr3	196530019	196530019	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtgaagcagaaatatctGagctttactcctcctggtaa	13	11	8	9	0	1	3	0	2	1	1	3	3	3	3	2	1	3	3	2	1	5	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:196530019G>C	ENST00000327134.3	+	4	742	c.420G>C	c.(418-420)ctG>ctC	p.L140L		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	140					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGAAATATCTGAGCTTTACTC	0.418													16	113					0	0	0	0	C	196530019	G	C	196530019	2	2	18	1	0	0	0	0	0	0	0	1	11472	1277	45	2		2	PAK2	3	196530019	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08	12427601	196530019	1492411	42	4012											
KIT	3815	broad.mit.edu	37	chr4	55594190	55594190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttagcgagtgcccatttGacagaacgggaagccctcat	11	10	10	10	2	1	2	1	1	0	1	1	4	1	3	2	1	4	0	2	1	3	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:55594190G>C	ENST00000288135.5	+	13	1990	c.1893G>C	c.(1891-1893)ttG>ttC	p.L631F		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	631	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCCCATTTGACAGAACGGG	0.438		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				5	71					0	0	0	0	C	55594190	G	C	55594190	3	2	18	1	0	0	0	0	1	0	0	0	8381	1281	45	2	1943	2	KIT	4	55594190	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08		55594190	135560086	43	4013											
PRDM8	56978	broad.mit.edu	37	chr4	81122461	81122461	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtagacacctcagcagcAaatggttcctcagaaggtct	12	8	10	11	0	3	2	2	0	1	2	4	2	4	2	2	3	2	4	2	3	3	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:81122461A>C	ENST00000339711.4	+	9	1468	c.237A>C	c.(235-237)gcA>gcC	p.A79A	PRDM8_ENST00000415738.2_Silent_p.A79A|PRDM8_ENST00000504452.1_Silent_p.A79A	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	79	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCTCAGCAGCAAATGGTTCCT	0.478													9	18					0	0	0	0	C	81122461	A	C	81122461	2	2	18	1	0	0	0	0	0	0	0	1	12542	117	5	5		5	PRDM8	4	81122461	Silent	SNP	A	TCGA-BA-6871-01A-11D-1870-08	25528271	81122461	110031815	44	4014											
PRDM8	56978	broad.mit.edu	37	chr4	81123227	81123227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcaccaaggaccacggggGcggcggcggcggtggcaaag	8	1	21	11	5	0	0	0	0	0	0	0	1	0	1	2	9	0	2	2	9	2	0			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:81123227G>A	ENST00000339711.4	+	10	1842	c.611G>A	c.(610-612)gGc>gAc	p.G204D	PRDM8_ENST00000415738.2_Missense_Mutation_p.G204D|PRDM8_ENST00000504452.1_Missense_Mutation_p.G204D	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	204	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gaccacgggggcggcggcggc	0.652											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	53					0	0	0	0	A	81123227	G	A	81123227	3	1	18	1	0	0	0	0	1	0	0	0	12542	1203	42	4	621	4	PRDM8	4	81123227	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	766	81123227	110031049	45	4015											
FAM13A	10144	broad.mit.edu	37	chr4	89744151	89744151	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggcatgatttcacaaGccattctcgtatgtaaattt	12	13	8	8	1	2	2	1	1	1	1	3	2	2	2	1	1	1	4	1	1	4	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:89744151G>C	ENST00000395002.2	-	1	361	c.5C>G	c.(4-6)gCt>gGt	p.A2G	FAM13A_ENST00000508369.1_Missense_Mutation_p.A2G|FAM13A_ENST00000513837.1_Missense_Mutation_p.A2G|FAM13A_ENST00000264344.5_Intron|FAM13A_ENST00000502459.1_Intron|FAM13A_ENST00000503556.1_Missense_Mutation_p.A2G|FAM13A_ENST00000511976.1_Intron	NM_001015045.2|NM_001265579.1	NP_001015045.1|NP_001252508.1	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	0					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GATTTCACAAGCCATTCTCGT	0.383													41	118					0	0	0	0	C	89744151	G	C	89744151	3	2	18	1	0	0	0	0	1	0	0	0	5493	971	34	4	2160	4	FAM13A	4	89744151	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	8620924	89744151	101410125	46	4016											
MTTP	4547	broad.mit.edu	37	chr4	100534196	100534196	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagctcagacctgtcaccTttttcaacggatacagtgat	10	13	7	11	1	4	2	4	1	0	1	4	3	4	3	2	1	3	1	2	1	2	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:100534196T>C	ENST00000457717.1	+	16	2372	c.2116T>C	c.(2116-2118)Ttt>Ctt	p.F706L	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.F733L|MTTP_ENST00000265517.5_Missense_Mutation_p.F706L	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	706					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ACCTGTCACCTTTTTCAACGG	0.478													3	120					0	0	0	0	C	100534196	T	C	100534196	3	2	18	1	0	0	0	0	1	0	0	0	10034	1609	56	5	2174	5	MTTP	4	100534196	Missense_Mutation	SNP	T	TCGA-BA-6871-01A-11D-1870-08	10790045	100534196	90620080	47	4017											
TBCK	93627	broad.mit.edu	37	chr4	107156504	107156504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgcttctttccagatttgGttttttttatatggataagc	7	21	7	6	0	1	1	0	0	1	1	2	2	2	2	1	2	2	2	1	2	3	10			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:107156504G>T	ENST00000273980.4	-	16	1818	c.1371C>A	c.(1369-1371)aaC>aaA	p.N457K	TBCK_ENST00000394708.2_Missense_Mutation_p.N457K|TBCK_ENST00000361687.4_Missense_Mutation_p.N394K|TBCK_ENST00000394706.3_Missense_Mutation_p.N418K|TBCK_ENST00000432496.2_Missense_Mutation_p.N457K			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	457						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TCCAGATTTGGTTTTTTTTAT	0.363													10	28					6.40141e-05	6.90774e-05	1	0	T	107156504	G	T	107156504	3	4	18	1	0	0	0	0	1	0	0	0	15730	1252	44	4	1358	4	TBCK	4	107156504	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	6622308	107156504	83997772	48	4018											
ANK2	287	broad.mit.edu	37	chr4	114275313	114275313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaggcaccctccagtatcaCcatcaagtaaaactgagaaa	18	6	6	11	0	2	1	2	1	0	1	3	2	3	1	3	1	1	3	3	1	6	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:114275313C>A	ENST00000357077.4	+	38	5592	c.5539C>A	c.(5539-5541)Cca>Aca	p.P1847T	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P1814T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1814	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCAGTATCACCATCAAGTAA	0.473													56	179					2.5401e-28	2.9948e-28	1	0	A	114275313	C	A	114275313	3	1	18	1	0	0	0	0	1	0	0	0	621	507	18	4	5754	4	ANK2	4	114275313	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	7118809	114275313	76878963	49	4019											
KIAA1109	84162	broad.mit.edu	37	chr4	123270379	123270379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaatcgtgatcgagagatCagcatgtctgttggtctggg	9	12	14	6	2	3	2	1	1	2	1	5	4	3	2	0	2	1	3	0	2	1	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:123270379C>T	ENST00000264501.4	+	78	13720	c.13347C>T	c.(13345-13347)atC>atT	p.I4449I	KIAA1109_ENST00000388738.3_Silent_p.I4449I			Q2LD37	K1109_HUMAN	KIAA1109	4449					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATCGAGAGATCAGCATGTCTG	0.403													12	37					0	0	0	0	T	123270379	C	T	123270379	2	4	18	1	0	0	0	0	0	0	0	1	8259	816	29	2		2	KIAA1109	4	123270379	Silent	SNP	C	TCGA-BA-6871-01A-11D-1870-08	8995066	123270379	67883897	50	4020											
ZNF827	152485	broad.mit.edu	37	chr4	146823888	146823888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcattctgttcctgcttctCggccaacttcctggccagaa	6	13	8	14	1	3	1	1	0	2	1	6	1	5	1	4	2	2	2	4	2	2	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:146823888C>T	ENST00000508784.1	-	2	750	c.523G>A	c.(523-525)Gag>Aag	p.E175K	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.E175K			Q17R98	ZN827_HUMAN	zinc finger protein 827	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCCTGCTTCTCGGCCAACTTC	0.537													4	93					0	0	0	0	T	146823888	C	T	146823888	3	4	18	1	0	0	0	0	1	0	0	0	18273	893	31	1	2758	1	ZNF827	4	146823888	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	23553509	146823888	44330388	51	4021											
FAT1	2195	broad.mit.edu	37	chr4	187535482	187535482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacgtcttcaggaataGtgtctgaatataaagtctgc	13	11	11	6	1	4	1	1	1	3	0	4	4	4	3	0	2	1	0	0	2	7	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:187535482G>A	ENST00000441802.2	-	12	9301	c.9092C>T	c.(9091-9093)aCt>aTt	p.T3031I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3031	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCAGGAATAGTGTCTGAATA	0.378										HNSCC(5;0.00058)			19	56					0	0	0	0	A	187535482	G	A	187535482	3	1	18	1	0	0	0	0	1	0	0	0	5734	1029	36	4	4738	4	FAT1	4	187535482	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	40711594	187535482	3618794	52	4022											
TERT	7015	broad.mit.edu	37	chr5	1253933	1253933	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgggagcttccgactCagctgcgtctgggctgcggg	3	8	16	14	4	2	0	1	0	1	0	4	2	4	1	3	3	4	3	3	3	0	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:1253933C>A	ENST00000310581.5	-	16	3366	c.3309G>T	c.(3307-3309)ctG>ctT	p.L1103L	TERT_ENST00000334602.6_Silent_p.L1040L|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1103	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|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)			GCTTCCGACTCAGCTGCGTCT	0.662									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				13	133					1.3612e-06	1.49419e-06	1	0	A	1253933	C	A	1253933	2	1	18	1	0	0	0	0	0	0	0	1	15858	813	29	2		2	TERT	5	1253933	Silent	SNP	C	TCGA-BA-6871-01A-11D-1870-08		1253933	179661327	53	4023											
NPR3	4883	broad.mit.edu	37	chr5	32789781	32789781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcacatgtgccttctttgcCccaaatgcatcactttcctt	7	14	6	14	0	2	0	1	0	1	0	3	0	3	0	4	1	3	2	4	1	1	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:32789781C>A	ENST00000326958.1	+	1	837	c.274C>A	c.(274-276)Ccc>Acc	p.P92T	NPR3_ENST00000265074.8_3'UTR																							CCTTCTTTGCCCCAAATGCAT	0.403													18	41					1.67942e-08	1.86493e-08	1	0	A	32789781	C	A	32789781	3	1	18	1	0	0	0	0	1	0	0	0	10667	623	22	4		4	NPR3	5	32789781	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	31535848	32789781	148125479	54	4024											
REEP5	7905	broad.mit.edu	37	chr5	112238181	112238181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaggtcagccactgggtatCatcttctttgttgggactct	6	15	11	9	0	5	0	2	0	3	0	5	1	5	1	1	3	1	3	1	3	2	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:112238181C>T	ENST00000379638.4	-	3	595	c.247G>A	c.(247-249)Gat>Aat	p.D83N	REEP5_ENST00000474542.2_5'UTR|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000545426.1_Missense_Mutation_p.D83N|REEP5_ENST00000513339.1_Missense_Mutation_p.D83N	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	83						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		CACTGGGTATCATCTTCTTTG	0.383													16	48					0	0	0	0	T	112238181	C	T	112238181	3	4	18	1	0	0	0	0	1	0	0	0	13290	826	29	2	334	2	REEP5	5	112238181	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	79448400	112238181	68677079	55	4025											
FBN2	2201	broad.mit.edu	37	chr5	127595471	127595471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgggagaggttgaacttCatgttgacggggctgtccat	8	11	16	6	1	1	3	1	2	0	1	2	4	2	3	1	5	1	3	1	5	1	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:127595471C>T	ENST00000508053.1	-	71	9389	c.8415G>A	c.(8413-8415)atG>atA	p.M2805I	FBN2_ENST00000262464.4_Missense_Mutation_p.M2805I			P35556	FBN2_HUMAN	fibrillin 2	2805					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTTGAACTTCATGTTGACGG	0.517													47	44					0	0	0	0	T	127595471	C	T	127595471	3	4	18	1	0	0	0	0	1	0	0	0	5748	826	29	2	327	2	FBN2	5	127595471	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	15357290	127595471	53319789	56	4026											
KCTD16	57528	broad.mit.edu	37	chr5	143586683	143586683	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcccagatgaattctgcCacagtgactttgaagatgcc	13	9	9	10	0	1	5	0	3	1	2	1	5	1	5	3	0	3	0	3	0	3	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:143586683C>G	ENST00000507359.2	+	2	1497	c.406C>G	c.(406-408)Cac>Gac	p.H136D	KCTD16_ENST00000512467.1_Missense_Mutation_p.H136D	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	136						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGAATTCTGCCACAGTGACTT	0.522													28	43					0	0	0	0	G	143586683	C	G	143586683	3	3	18	1	0	0	0	0	1	0	0	0	8156	594	21	4	408	4	KCTD16	5	143586683	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	15991212	143586683	37328577	57	4027											
THG1L	54974	broad.mit.edu	37	chr5	157166327	157166327	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actactttatttttacctgtAggtggatgaagtgatgacaa	12	15	9	5	0	0	3	0	3	0	0	0	4	0	4	1	2	2	1	1	2	6	7			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:157166327A>T	ENST00000231198.7	+	6	979		c.e6-1			NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)						protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTACCTGTAGGTGGATGAA	0.428													17	26					0	0	0	0	T	157166327	A	T	157166327	5	4	18	1	0	0	0	0	0	0	1	0	15955	434	15	5	756	5	THG1L	5	157166327	Splice_Site	SNP	A	TCGA-BA-6871-01A-11D-1870-08	13579644	157166327	23748933	58	4028											
TRIM26	7726	broad.mit.edu	37	chr6	30166498	30166498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtggggcctgtgctccCgggactcccggcacatcacg	4	7	14	16	4	1	0	1	0	0	0	3	1	3	1	4	4	1	2	4	4	0	0			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:30166498C>G	ENST00000454678.2	-	4	819	c.383G>C	c.(382-384)cGg>cCg	p.R128P	TRIM26_ENST00000453195.1_Missense_Mutation_p.R128P|TRIM26_ENST00000437089.1_Missense_Mutation_p.R128P	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	128							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CCTGTGCTCCCGGGACTCCCG	0.642													11	14					0	0	0	0	G	30166498	C	G	30166498	3	3	18	1	0	0	0	0	1	0	0	0	16595	652	23	3	1264	3	TRIM26	6	30166498	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08		30166498	140948569	59	4029											
ANKS1A	23294	broad.mit.edu	37	chr6	34949518	34949518	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcgcagtatggccacacaGaggtggtgaaggtgctctta	10	8	14	9	1	1	2	0	1	1	1	1	2	1	2	1	4	2	3	1	4	3	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:34949518G>C	ENST00000360359.3	+	4	625	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	ANKS1A_ENST00000535627.1_Missense_Mutation_p.E163Q	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	163						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGGCCACACAGAGGTGGTGAA	0.542													21	41					0	0	0	0	C	34949518	G	C	34949518	3	2	18	1	0	0	0	0	1	0	0	0	687	943	33	2	501	2	ANKS1A	6	34949518	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	4783020	34949518	136165549	60	4030											
ZFAND3	60685	broad.mit.edu	37	chr6	38120124	38120124	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaagctggaccggaaaGtggggcgctcctgccagcgc	7	6	17	11	3	0	1	0	1	0	0	1	3	1	3	3	5	3	2	3	5	2	0			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:38120124G>C	ENST00000287218.4	+	6	1090	c.643G>C	c.(643-645)Gtg>Ctg	p.V215L	ZFAND3_ENST00000463847.1_3'UTR|ZFAND3_ENST00000373391.2_Missense_Mutation_p.V193L	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	215							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						GGACCGGAAAGTGGGGCGCTC	0.577													69	67					0	0	0	0	C	38120124	G	C	38120124	3	2	18	1	0	0	0	0	1	0	0	0	17724	1029	36	4	665	4	ZFAND3	6	38120124	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	3170606	38120124	132994943	61	4031											
KLHDC3	116138	broad.mit.edu	37	chr6	42985674	42985674	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgtgtcctaggcaagAtcatgtacatttttgggggc	8	12	12	9	0	1	1	1	0	0	1	2	1	2	1	2	3	2	2	2	3	3	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:42985674A>C	ENST00000326974.4	+	4	610	c.415A>C	c.(415-417)Atc>Ctc	p.I139L	KLHDC3_ENST00000244670.8_Intron|KLHDC3_ENST00000332245.8_Missense_Mutation_p.I80L	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	139					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCTAGGCAAGATCATGTACAT	0.512													27	77					0	0	0	0	C	42985674	A	C	42985674	3	2	18	1	0	0	0	0	1	0	0	0	8409	333	12	5	425	5	KLHDC3	6	42985674	Missense_Mutation	SNP	A	TCGA-BA-6871-01A-11D-1870-08	4865550	42985674	128129393	62	4032											
GSTA4	2941	broad.mit.edu	37	chr6	52847396	52847396	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaaaggaaatgcagacagGatattaggaattttctcttc	15	11	10	5	0	1	1	0	0	1	1	3	5	1	5	0	4	1	1	0	4	5	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:52847396G>A	ENST00000541324.1	-	4	508	c.243C>T	c.(241-243)atC>atT	p.I81I	GSTA4_ENST00000370960.1_Silent_p.I81I|GSTA4_ENST00000370959.1_Silent_p.I174I|GSTA4_ENST00000486559.1_5'UTR			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	174	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	ATGCAGACAGGATATTAGGAA	0.408													19	39					0	0	0	0	A	52847396	G	A	52847396	2	1	18	1	0	0	0	0	0	0	0	1	6883	1164	41	2		2	GSTA4	6	52847396	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08	9861722	52847396	118267671	63	4033											
FHL5	9457	broad.mit.edu	37	chr6	97063544	97063544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtggcatagcgaatgctttAactgcgggaaatgctctgtc	10	11	12	8	2	1	0	0	0	1	0	2	2	1	1	0	2	5	3	0	2	4	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:97063544A>G	ENST00000326771.2	+	7	1131	c.751A>G	c.(751-753)Aac>Gac	p.N251D	FHL5_ENST00000541107.1_Missense_Mutation_p.N251D	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	251	LIM zinc-binding 4.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CGAATGCTTTAACTGCGGGAA	0.448													8	53					0	0	0	0	G	97063544	A	G	97063544	3	3	18	1	0	0	0	0	1	0	0	0	5926	362	13	5	769	5	FHL5	6	97063544	Missense_Mutation	SNP	A	TCGA-BA-6871-01A-11D-1870-08	44216148	97063544	74051523	64	4034											
GRIK2	2898	broad.mit.edu	37	chr6	102503442	102503442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacaaatccaaaaaaaacgCtcaattggaaaaggtaaatg	22	7	6	6	1	1	0	1	0	0	0	2	1	2	1	1	2	2	2	1	2	11	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:102503442C>A	ENST00000369138.1	+	15	3039	c.2549C>A	c.(2548-2550)gCt>gAt	p.A850D	GRIK2_ENST00000318991.6_Missense_Mutation_p.A850D|GRIK2_ENST00000421544.1_Missense_Mutation_p.A850D|GRIK2_ENST00000413795.1_Missense_Mutation_p.A850D|GRIK2_ENST00000369137.3_Missense_Mutation_p.A774D|GRIK2_ENST00000369134.4_Missense_Mutation_p.A801D	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	850					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AAAAAAAACGCTCAATTGGAA	0.328													20	100					9.95505e-16	1.13857e-15	1	0	A	102503442	C	A	102503442	3	1	18	1	0	0	0	0	1	0	0	0	6824	797	28	4	2607	4	GRIK2	6	102503442	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	5439898	102503442	68611625	65	4035											
NCOA7	135112	broad.mit.edu	37	chr6	126210254	126210258	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-																															ccagaccaatagtacctttgGagaagtccacaggacataca																										TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:126210254_126210258delGAGAA	ENST00000368357.3	+	10	1406_1410	c.1054_1058delGAGAA	c.(1054-1059)gfs	p.EK352fs	NCOA7_ENST00000229634.9_Frame_Shift_Del_p.EK237fs|NCOA7_ENST00000392477.2_Frame_Shift_Del_p.EK352fs	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	352					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AGTACCTTTGGAGAAGTCCACAGGA	0.434													41	78	---	---	---	---					-	126210258	GAGAA	-	126210254	7	5	18	1	0	1	0	1	0	0	0	0	10304	1175	41	0	1084	0	NCOA7	6	126210254	Frame_Shift_Del	DEL	GAGAA	TCGA-BA-6871-01A-11D-1870-08	23706812	126210254	44904813	66	4036											
HECA	51696	broad.mit.edu	37	chr6	139495643	139495643	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggcactatgtacacCtacgacatcctggctgcctc	8	9	9	15	1	0	0	0	0	0	0	2	1	1	0	3	2	4	4	3	2	3	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:139495643C>T	ENST00000367658.2	+	3	1719	c.1434C>T	c.(1432-1434)acC>acT	p.T478T	RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	478					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CTATGTACACCTACGACATCC	0.547													12	131					0	0	0	0	T	139495643	C	T	139495643	2	4	18	1	0	0	0	0	0	0	0	1	7088	668	24	4		4	HECA	6	139495643	Silent	SNP	C	TCGA-BA-6871-01A-11D-1870-08	13285389	139495643	31619424	67	4037											
SUN1	23353	broad.mit.edu	37	chr7	912967	912967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatggcgaacctgtcaagtGaagacactactcattatttt	12	13	7	9	1	3	2	3	1	0	1	3	3	3	2	1	1	2	0	1	1	5	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:912967G>A	ENST00000456758.2	+	25	2924	c.2924G>A	c.(2923-2925)tGa>tAa	p.*975*	SUN1_ENST00000452783.2_Silent_p.*683*|SUN1_ENST00000425407.2_Silent_p.*703*|SUN1_ENST00000389574.3_Silent_p.*703*|SUN1_ENST00000413514.2_Silent_p.*584*|SUN1_ENST00000405266.1_Silent_p.*823*|SUN1_ENST00000401592.1_Silent_p.*786*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTGTCAAGTGAAGACACTAC	0.423											OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	67					0	0	0	0	A	912967	G	A	912967	2	1	18	1	0	0	0	0	0	0	0	1	15481	1285	45	2		2	SUN1	7	912967	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08		912967	158225696	68	4038											
CARD11	84433	broad.mit.edu	37	chr7	2987368	2987368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacattctcccacaaggCgtcctcttcatccttcagcg	7	11	5	18	2	4	0	2	0	2	0	8	0	7	0	4	1	1	0	4	1	1	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:2987368C>T	ENST00000396946.4	-	3	464	c.61G>A	c.(61-63)Gcc>Acc	p.A21T		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	21	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCCACAAGGCGTCCTCTTCA	0.507			Mis		DLBCL								27	99					0	0	0	0	T	2987368	C	T	2987368	3	4	18	1	0	0	0	0	1	0	0	0	2670	768	27	1	3495	1	CARD11	7	2987368	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	2074401	2987368	156151295	69	4039											
PMS2	5395	broad.mit.edu	37	chr7	6043690	6043690	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagtccttaagctttagatCtagaaagtttaaaatattta	16	16	5	4	0	1	2	0	0	1	2	2	2	2	2	1	0	1	2	1	0	9	10			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:6043690C>G	ENST00000265849.7	-	3	269		c.e3-1		PMS2_ENST00000406569.3_Splice_Site|PMS2_ENST00000382321.4_Splice_Site|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)						mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGCTTTAGATCTAGAAAGttt	0.294			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				33	78					0	0	0	0	G	6043690	C	G	6043690	5	3	18	1	0	0	0	0	0	0	1	0	12215	927	32	2	2477	2	PMS2	7	6043690	Splice_Site	SNP	C	TCGA-BA-6871-01A-11D-1870-08	3056322	6043690	153094973	70	4040											
ZNF12	7559	broad.mit.edu	37	chr7	6731676	6731676	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggatttcccacactgattAcattcgtaaggtttctctcc	10	14	6	11	1	1	1	0	1	1	0	5	2	3	2	2	2	1	2	2	2	3	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:6731676A>T	ENST00000405858.1	-	5	1438	c.897T>A	c.(895-897)tgT>tgA	p.C299*	ZNF12_ENST00000404360.1_Nonsense_Mutation_p.C225*|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.C261*|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	299					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CACACTGATTACATTCGTAAG	0.423													70	51					0	0	0	0	T	6731676	A	T	6731676	4	4	18	1	0	0	0	0	0	1	0	0	17813	389	14	5	1200	5	ZNF12	7	6731676	Nonsense_Mutation	SNP	A	TCGA-BA-6871-01A-11D-1870-08	687986	6731676	152406987	71	4041											
WIPF3	644150	broad.mit.edu	37	chr7	29923502	29923502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccctggctcccgcgcgcCctctcccaggcttcccaaca	4	6	10	21	3	1	0	0	0	1	0	4	0	3	0	5	3	1	2	5	3	1	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:29923502C>T	ENST00000409290.1	+	4	392	c.392C>T	c.(391-393)cCc>cTc	p.P131L	WIPF3_ENST00000409123.1_Missense_Mutation_p.P131L|WIPF3_ENST00000242140.5_Missense_Mutation_p.P131L	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	131										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TCCCGCGCGCCCTCTCCCAGG	0.627													6	18					0	0	0	0	T	29923502	C	T	29923502	3	4	18	1	0	0	0	0	1	0	0	0	17465	623	22	4	406	4	WIPF3	7	29923502	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	23191826	29923502	129215161	72	4042											
DDX56	54606	broad.mit.edu	37	chr7	44610375	44610375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttgtcccctttgggccctCggccccgacgcttgcccttg	2	11	10	18	3	0	0	0	0	0	0	2	1	1	0	6	2	1	1	6	2	0	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:44610375C>T	ENST00000258772.5	-	7	1098	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Intron	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	331	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TTTGGGCCCTCGGCCCCGACG	0.527													32	75					0	0	0	0	T	44610375	C	T	44610375	3	4	18	1	0	0	0	0	1	0	0	0	4406	884	31	1	683	1	DDX56	7	44610375	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	14686873	44610375	114528288	73	4043											
PKD1L1	168507	broad.mit.edu	37	chr7	47924243	47924243	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcttgaatgtcactgtaaTaggcttcaaaatctataaga	14	14	6	7	0	4	2	2	1	2	1	4	2	4	2	0	1	0	2	0	1	7	7			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:47924243T>C	ENST00000289672.2	-	19	3268	c.3218A>G	c.(3217-3219)tAt>tGt	p.Y1073C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1073	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTCACTGTAATAGGCTTCAAA	0.448													9	29					0	0	0	0	C	47924243	T	C	47924243	3	2	18	1	0	0	0	0	1	0	0	0	12036	1406	49	5	5487	5	PKD1L1	7	47924243	Missense_Mutation	SNP	T	TCGA-BA-6871-01A-11D-1870-08	3313868	47924243	111214420	74	4044											
IKZF1	10320	broad.mit.edu	37	chr7	50358680	50358680	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctgatgagggtcaagAcatgtcccaagtttcaggtg	10	10	14	7	0	2	3	2	2	0	1	3	4	3	4	1	3	1	2	1	3	2	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:50358680A>G	ENST00000331340.3	+	2	178	c.23A>G	c.(22-24)gAc>gGc	p.D8G	IKZF1_ENST00000438033.1_Missense_Mutation_p.D8G|IKZF1_ENST00000359197.5_Missense_Mutation_p.D8G|IKZF1_ENST00000349824.4_Missense_Mutation_p.D8G|IKZF1_ENST00000413698.1_Missense_Mutation_p.D8G|IKZF1_ENST00000440768.2_Missense_Mutation_p.D8G|IKZF1_ENST00000346667.4_Missense_Mutation_p.D8G|IKZF1_ENST00000357364.4_Missense_Mutation_p.D8G|IKZF1_ENST00000343574.5_Missense_Mutation_p.D8G|IKZF1_ENST00000492782.1_3'UTR|IKZF1_ENST00000439701.1_Missense_Mutation_p.D8G	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	8					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(41)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAGGGTCAAGACATGTCCCAA	0.438			"D,T"	BCL6	"ALL, DLBCL"								45	138					0	0	0	0	G	50358680	A	G	50358680	3	3	18	1	0	0	0	0	1	0	0	0	7667	275	10	5	25	5	IKZF1	7	50358680	Missense_Mutation	SNP	A	TCGA-BA-6871-01A-11D-1870-08	2434437	50358680	108779983	75	4045											
IKZF1	10320	broad.mit.edu	37	chr7	50450284	50450284	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcggggcctcattcacccaGaagggcaacctgctccggca	8	6	12	15	2	2	1	2	0	0	1	3	1	3	1	4	4	3	3	4	4	2	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:50450284G>A	ENST00000331340.3	+	5	623	c.468G>A	c.(466-468)caG>caA	p.Q156Q	IKZF1_ENST00000438033.1_Silent_p.Q69Q|IKZF1_ENST00000359197.5_Silent_p.Q156Q|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Silent_p.Q156Q|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000357364.4_Silent_p.Q156Q|IKZF1_ENST00000343574.5_Silent_p.Q69Q|IKZF1_ENST00000439701.1_Silent_p.Q156Q	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	156	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CATTCACCCAGAAGGGCAACC	0.612			"D,T"	BCL6	"ALL, DLBCL"								7	21					0	0	0	0	A	50450284	G	A	50450284	2	1	18	1	0	0	0	0	0	0	0	1	7667	933	33	2		2	IKZF1	7	50450284	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08	91604	50450284	108688379	76	4046											
POM121	9883	broad.mit.edu	37	chr7	72413639	72413639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttggcggtgccacgcactCggcgtttgggttgaaagcca	6	10	14	11	4	0	1	0	1	0	0	1	1	0	1	2	4	2	3	2	4	1	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:72413639C>T	ENST00000395270.1	+	14	3353	c.2312C>T	c.(2311-2313)tCg>tTg	p.S771L	POM121_ENST00000358357.3_Missense_Mutation_p.S771L|POM121_ENST00000446813.1_Missense_Mutation_p.S771L|POM121_ENST00000257622.4_Missense_Mutation_p.S771L|POM121_ENST00000434423.2_Missense_Mutation_p.S1036L	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1036	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCCACGCACTCGGCGTTTGGG	0.652													10	63					0	0	0	0	T	72413639	C	T	72413639	3	4	18	1	0	0	0	0	1	0	0	0	12311	893	31	1	2350	1	POM121	7	72413639	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	21963355	72413639	86725024	77	4047											
HIP1	3092	broad.mit.edu	37	chr7	75168691	75168691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagctcgtagtgctttttccGaagctctcccagtttttgac	7	15	8	11	2	1	1	0	1	1	0	4	2	2	1	2	0	3	5	2	0	3	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:75168691G>A	ENST00000336926.6	-	30	3039	c.3013C>T	c.(3013-3015)Cgg>Tgg	p.R1005W	HIP1_ENST00000434438.2_Missense_Mutation_p.R954W	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1005	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCTTTTTCCGAAGCTCTCCC	0.502			T	PDGFRB	CMML								85	293					0	0	0	0	A	75168691	G	A	75168691	3	1	18	1	0	0	0	0	1	0	0	0	7164	1057	37	1	108	1	HIP1	7	75168691	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	2755052	75168691	83969972	78	4048											
PCLO	27445	broad.mit.edu	37	chr7	82585126	82585126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcagactcgaagatccctCtccccttgacctatcttcag	9	11	6	15	1	3	3	1	1	2	2	6	4	4	3	4	0	1	1	4	0	2	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:82585126C>G	ENST00000423517.2	-	5	5480	c.5143G>C	c.(5143-5145)Gag>Cag	p.E1715Q	PCLO_ENST00000333891.8_Missense_Mutation_p.E1715Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1646					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAGATCCCTCTCCCCTTGAC	0.463													21	48					0	0	0	0	G	82585126	C	G	82585126	3	3	18	1	0	0	0	0	1	0	0	0	11654	922	32	2	10386	2	PCLO	7	82585126	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	7416435	82585126	76553537	79	4049											
STEAP4	79689	broad.mit.edu	37	chr7	87908865	87908865	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagataccatctgagatttgAagggctgaggaatctcttcc	12	11	10	8	0	2	4	0	3	2	2	4	6	3	5	2	2	1	1	2	2	4	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:87908865A>T	ENST00000380079.4	-	5	1329	c.1228T>A	c.(1228-1230)Tca>Aca	p.S410T	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.S234T	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	410					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTGAGATTTGAAGGGCTGAGG	0.448													22	32					0	0	0	0	T	87908865	A	T	87908865	3	4	18	1	0	0	0	0	1	0	0	0	15370	246	9	5	155	5	STEAP4	7	87908865	Missense_Mutation	SNP	A	TCGA-BA-6871-01A-11D-1870-08	5323739	87908865	71229798	80	4050											
AKAP9	10142	broad.mit.edu	37	chr7	91695764	91695764	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccattgacagagaacaTgagagagatgtattccaaca	17	7	9	8	0	0	4	0	2	0	3	1	7	1	4	2	0	3	1	2	0	4	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:91695764T>C	ENST00000359028.2	+	27	6495	c.6270T>C	c.(6268-6270)caT>caC	p.H2090H	AKAP9_ENST00000356239.3_Silent_p.H2078H|AKAP9_ENST00000358100.2_Silent_p.H2090H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2090	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGAGAACATGAGAGAGATG	0.358			T	BRAF	papillary thyroid								15	58					0	0	0	0	C	91695764	T	C	91695764	2	2	18	1	0	0	0	0	0	0	0	1	459	1461	51	5		5	AKAP9	7	91695764	Silent	SNP	T	TCGA-BA-6871-01A-11D-1870-08	3786899	91695764	67442899	81	4051											
LRRN3	54674	broad.mit.edu	37	chr7	110763135	110763135	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggatttatctcaaaacAatttatcttcagtcaccaat	13	14	4	10	0	4	0	3	0	2	0	5	1	4	1	2	1	1	0	2	1	6	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:110763135A>T	ENST00000451085.1	+	4	1353	c.307A>T	c.(307-309)Aat>Tat	p.N103Y	IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.N103Y|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N103Y	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	103						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATCTCAAAACAATTTATCTTC	0.353													5	35					0	0	0	0	T	110763135	A	T	110763135	3	4	18	1	0	0	0	0	1	0	0	0	9100	130	5	5	309	5	LRRN3	7	110763135	Missense_Mutation	SNP	A	TCGA-BA-6871-01A-11D-1870-08	19067371	110763135	48375528	82	4052											
MGAM	8972	broad.mit.edu	37	chr7	141797392	141797392	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgtttatgtttcattttaGaatgccagaaatgtcactgc	10	17	7	7	0	2	2	2	0	0	2	2	2	2	2	1	0	2	2	1	0	4	6			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:141797392G>C	ENST00000475668.2	+	66	7746		c.e66-1		MGAM_ENST00000549489.2_Splice_Site			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTCATTTTAGAATGCCAGAA	0.398													16	36					0	0	0	0	C	141797392	G	C	141797392	5	2	18	1	0	0	0	0	0	0	1	0	9610	956	33	2	5170	2	MGAM	7	141797392	Splice_Site	SNP	G	TCGA-BA-6871-01A-11D-1870-08	31034257	141797392	17341271	83	4053											
CSMD3	114788	broad.mit.edu	37	chr8	114110999	114110999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaccatatggtaggtggCtcagaaccttctatttctaa	11	14	7	9	0	3	1	1	0	2	1	3	1	3	1	2	3	2	2	2	3	6	7			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:114110999C>A	ENST00000297405.5	-	5	1147	c.903G>T	c.(901-903)gaG>gaT	p.E301D	CSMD3_ENST00000455883.2_Missense_Mutation_p.E301D|CSMD3_ENST00000343508.3_Missense_Mutation_p.E261D|CSMD3_ENST00000352409.3_Missense_Mutation_p.E301D|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	301	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTAGGTGGCTCAGAACCTT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	60					0.00909568	0.00949331	1	0	A	114110999	C	A	114110999	3	1	18	1	0	0	0	0	1	0	0	0	3978	796	28	4	10488	4	CSMD3	8	114110999	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08		114110999	32253023	84	4054											
OC90	729330	broad.mit.edu	37	chr8	133048660	133048660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtcagcctcagtctctgCagccactgtgaacagaaatc	10	10	8	13	0	4	2	2	1	2	1	6	2	4	2	2	0	4	1	2	0	2	0			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:133048660C>A	ENST00000262283.5	-	13	1372	c.1273G>T	c.(1273-1275)Gca>Tca	p.A425S	OC90_ENST00000443356.2_Missense_Mutation_p.A229S|OC90_ENST00000254627.3_Intron|OC90_ENST00000603859.1_Intron			Q02509	OC90_HUMAN	otoconin 90	229	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.A425S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCAGTCTCTGCAGCCACTGTG	0.463													16	100					0.000566183	0.000607534	1	0	A	133048660	C	A	133048660	3	1	18	1	0	0	0	0	1	0	0	0	10885	725	25	4		4	OC90	8	133048660	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	18937661	133048660	13315362	85	4055											
KCNQ3	3786	broad.mit.edu	37	chr8	133153390	133153390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaccttcagaactctgcCagaaagcgtaggctttcatg	11	11	8	11	1	3	2	2	0	1	2	3	2	3	2	2	1	4	2	2	1	4	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:133153390C>A	ENST00000388996.4	-	10	1871	c.1451G>T	c.(1450-1452)tGg>tTg	p.W484L	KCNQ3_ENST00000521134.1_Missense_Mutation_p.W364L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.W484L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	484					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGAACTCTGCCAGAAAGCGTA	0.493													36	81					1.69901e-12	1.93161e-12	1	0	A	133153390	C	A	133153390	3	1	18	1	0	0	0	0	1	0	0	0	8137	595	21	4	1191	4	KCNQ3	8	133153390	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	104730	133153390	13210632	86	4056											
TRAPPC9	83696	broad.mit.edu	37	chr8	140744287	140744287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggtcgtagttgtgcaCgccgttctggtggtcctgga	4	12	16	9	3	1	0	0	0	1	0	3	1	2	1	2	4	2	5	2	4	1	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:140744287C>T	ENST00000389328.4	-	22	3522	c.3508G>A	c.(3508-3510)Gtg>Atg	p.V1170M	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.V1063M|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.V1072M|TRAPPC9_ENST00000522504.1_5'UTR	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1072					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TAGTTGTGCACGCCGTTCTGG	0.682													3	16					0	0	0	0	T	140744287	C	T	140744287	3	4	18	1	0	0	0	0	1	0	0	0	16560	536	19	1	240	1	TRAPPC9	8	140744287	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	7590897	140744287	5619735	87	4057											
TOP1MT	116447	broad.mit.edu	37	chr8	144406249	144406249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcccggtactgggagcGgatctcgtccacaaatcccc	8	7	11	15	3	2	0	1	0	1	0	5	2	4	2	4	3	3	1	4	3	2	1	rs144092447		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:144406249G>A	ENST00000523676.1	-	8	991	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	TOP1MT_ENST00000329245.4_Missense_Mutation_p.R294C|TOP1MT_ENST00000519148.1_Missense_Mutation_p.R196C|TOP1MT_ENST00000521193.1_Missense_Mutation_p.R196C			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	294					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TACTGGGAGCGGATCTCGTCC	0.527													4	206					0	0	0	0	A	144406249	G	A	144406249	3	1	18	1	0	0	0	0	1	0	0	0	16459	1116	39	1	957	1	TOP1MT	8	144406249	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	3661962	144406249	1957773	88	4058											
EPPK1	83481	broad.mit.edu	37	chr8	144947143	144947143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcagggccttggacacaggGagcagctggccccgggcgag	7	4	18	12	2	0	0	0	0	0	0	0	3	0	2	3	5	3	3	3	5	0	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:144947143G>A	ENST00000525985.1	-	2	350	c.279C>T	c.(277-279)ctC>ctT	p.L93L				P58107	EPIPL_HUMAN	epiplakin 1	93						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACACAGGGAGCAGCTGGC	0.701													5	24					0	0	0	0	A	144947143	G	A	144947143	2	1	18	1	0	0	0	0	0	0	0	1	5228	1161	41	2		2	EPPK1	8	144947143	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08	540894	144947143	1416879	89	4059											
PTPRD	5789	broad.mit.edu	37	chr9	8525016	8525016	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttggtcagactcttcactCtgctcaatctgaagggctcc	7	12	8	14	0	6	2	3	1	3	1	7	2	7	2	2	2	1	2	2	2	2	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:8525016C>G	ENST00000381196.4	-	15	1131	c.588G>C	c.(586-588)caG>caC	p.Q196H	PTPRD_ENST00000360074.4_Missense_Mutation_p.Q187H|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q196H|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q193H|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q187H|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q196H|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q196H|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q196H|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q190H|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q193H|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q190H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	196	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTCTTCACTCTGCTCAATCT	0.433										TSP Lung(15;0.13)			41	115					0	0	0	0	G	8525016	C	G	8525016	3	3	18	1	0	0	0	0	1	0	0	0	12881	912	32	2	5334	2	PTPRD	9	8525016	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08		8525016	132688415	90	4060											
PSIP1	11168	broad.mit.edu	37	chr9	15472711	15472711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctttcagcatattccttCtgtgagcagtctgaaagttc	8	14	9	10	0	3	2	1	2	2	0	5	2	4	2	2	1	2	3	2	1	2	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:15472711C>G	ENST00000380733.4	-	10	1239	c.896G>C	c.(895-897)aGa>aCa	p.R299T	PSIP1_ENST00000380738.4_Missense_Mutation_p.R299T|PSIP1_ENST00000380716.4_Missense_Mutation_p.R299T|PSIP1_ENST00000380715.1_Missense_Mutation_p.R299T|PSIP1_ENST00000397519.2_Missense_Mutation_p.R299T			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	299					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CATATTCCTTCTGTGAGCAGT	0.373													37	51					0	0	0	0	G	15472711	C	G	15472711	3	3	18	1	0	0	0	0	1	0	0	0	12742	913	32	2	753	2	PSIP1	9	15472711	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	6947695	15472711	125740720	91	4061											
NOL8	55035	broad.mit.edu	37	chr9	95062242	95062242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaactgctgtcttgtaaacGagggtcttcctgccagacaa	10	11	10	10	1	2	2	0	1	2	1	3	3	3	2	2	1	4	2	2	1	4	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:95062242G>A	ENST00000545558.1	-	14	3724	c.3232C>T	c.(3232-3234)Cgt>Tgt	p.R1078C	NOL8_ENST00000535387.1_Missense_Mutation_p.R1040C|NOL8_ENST00000542053.1_Missense_Mutation_p.R1010C|NOL8_ENST00000442668.2_Missense_Mutation_p.R1078C|NOL8_ENST00000358855.4_Missense_Mutation_p.R1010C			Q76FK4	NOL8_HUMAN	nucleolar protein 8	1078					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTTGTAAACGAGGGTCTTCC	0.413													74	131					0	0	0	0	A	95062242	G	A	95062242	3	1	18	1	0	0	0	0	1	0	0	0	10597	1058	37	1	287	1	NOL8	9	95062242	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	79589531	95062242	46151189	92	4062											
GRIN3A	116443	broad.mit.edu	37	chr9	104375732	104375732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagcatatccataaaccCatgtgacttgtattgactga	13	12	8	8	0	0	3	0	3	0	0	1	4	1	4	2	1	2	2	2	1	4	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:104375732C>A	ENST00000361820.3	-	6	3292	c.2692G>T	c.(2692-2694)Ggg>Tgg	p.G898W	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	898					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TCCATAAACCCATGTGACTTG	0.463													22	8					2.27525e-19	2.66609e-19	1	0	A	104375732	C	A	104375732	3	1	18	1	0	0	0	0	1	0	0	0	6833	594	21	4	671	4	GRIN3A	9	104375732	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	9313490	104375732	36837699	93	4063											
GRIN3A	116443	broad.mit.edu	37	chr9	104432608	104432608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaaatggactcttccattCatacagagtgaggaagacgg	14	8	10	9	1	2	3	1	1	1	2	3	5	3	5	2	3	1	0	2	3	3	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:104432608C>T	ENST00000361820.3	-	3	2686	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	696					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTCTTCCATTCATACAGAGTG	0.488													29	77					0	0	0	0	T	104432608	C	T	104432608	3	4	18	1	0	0	0	0	1	0	0	0	6833	835	29	2	1289	2	GRIN3A	9	104432608	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	56876	104432608	36780823	94	4064											
C9orf50	375759	broad.mit.edu	37	chr9	132375462	132375462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcagcggccttcttccatGaacagaagggcaggctgctg	9	7	14	11	1	1	2	0	1	1	1	2	3	2	2	2	3	4	4	2	3	2	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:132375462G>A	ENST00000372478.4	-	6	1313	c.1112C>T	c.(1111-1113)tCa>tTa	p.S371L	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	371										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				CTTCTTCCATGAACAGAAGGG	0.607													11	33					0	0	0	0	A	132375462	G	A	132375462	3	1	18	1	0	0	0	0	1	0	0	0	2512	1294	45	2	191	2	C9orf50	9	132375462	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	27942854	132375462	8837969	95	4065											
COL5A1	1289	broad.mit.edu	37	chr9	137715309	137715309	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccacccaggacccccaggCcccccggtaagtagcccttg	7	4	11	19	1	0	0	0	0	0	0	0	1	0	1	8	4	1	2	8	4	2	3	rs61735501	byFrequency	TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:137715309C>A	ENST00000371817.3	+	61	5106	c.4692C>A	c.(4690-4692)ggC>ggA	p.G1564G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1564	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACCCCCAGGCCCCCCGGTAA	0.597													26	50					1.74197e-06	1.90124e-06	1	0	A	137715309	C	A	137715309	2	1	18	1	0	0	0	0	0	0	0	1	3726	726	26	4		4	COL5A1	9	137715309	Silent	SNP	C	TCGA-BA-6871-01A-11D-1870-08	5339847	137715309	3498122	96	4066											
GLT6D1	360203	broad.mit.edu	37	chr9	138531020	138531020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaaaccaataacagcattCttttagaattcattctctcc	15	14	2	10	0	3	1	1	0	2	1	5	1	4	1	2	0	3	1	2	0	6	7			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:138531020C>G	ENST00000371763.1	-	2	267	c.14G>C	c.(13-15)aGa>aCa	p.R5T		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	5					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TAACAGCATTCTTTTAGAATT	0.289													13	32					0	0	0	0	G	138531020	C	G	138531020	3	3	18	1	0	0	0	0	1	0	0	0	6519	913	32	2	832	2	GLT6D1	9	138531020	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	815711	138531020	2682411	97	4067											
UPF2	26019	broad.mit.edu	37	chr10	11994141	11994141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaattacagagtttgatCtttggtcttagcagttctag	11	15	10	5	0	3	3	0	1	3	2	3	4	3	3	0	1	2	3	0	1	4	6			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:11994141C>A	ENST00000356352.2	-	14	3431	c.2958G>T	c.(2956-2958)aaG>aaT	p.K986N	UPF2_ENST00000357604.5_Missense_Mutation_p.K986N|UPF2_ENST00000397053.2_Missense_Mutation_p.K986N			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	986	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AGAGTTTGATCTTTGGTCTTA	0.368													87	82					8.84886e-50	1.05633e-49	1	0	A	11994141	C	A	11994141	3	1	18	1	0	0	0	0	1	0	0	0	17100	912	32	2	892	2	UPF2	10	11994141	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08		11994141	123540606	98	4068											
UPF2	26019	broad.mit.edu	37	chr10	11994167	11994167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttagcagttctagtgtatCactgatcatgtaatctatat	11	17	6	7	0	5	1	2	1	3	0	5	1	5	1	0	0	1	4	0	0	6	7			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:11994167C>T	ENST00000356352.2	-	14	3405	c.2932G>A	c.(2932-2934)Gat>Aat	p.D978N	UPF2_ENST00000357604.5_Missense_Mutation_p.D978N|UPF2_ENST00000397053.2_Missense_Mutation_p.D978N			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	978	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTAGTGTATCACTGATCATG	0.353													76	66					0	0	0	0	T	11994167	C	T	11994167	3	4	18	1	0	0	0	0	1	0	0	0	17100	826	29	2	918	2	UPF2	10	11994167	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	26	11994167	123540580	99	4069											
CUBN	8029	broad.mit.edu	37	chr10	17113568	17113568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttaggaaaaaaaggcgagcGaatgaccccttctccagtta	14	8	10	9	2	1	1	0	1	1	0	2	4	1	2	3	2	1	2	3	2	6	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:17113568G>A	ENST00000377833.4	-	19	2547	c.2482C>T	c.(2482-2484)Cgc>Tgc	p.R828C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	828	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAGGCGAGCGAATGACCCCT	0.413													17	66					0	0	0	0	A	17113568	G	A	17113568	3	1	18	1	0	0	0	0	1	0	0	0	4083	1058	37	1	8585	1	CUBN	10	17113568	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	5119401	17113568	118421179	100	4070											
NRP1	8829	broad.mit.edu	37	chr10	33619748	33619748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacttgggtgataagaatGaggataaccaggagatgtaa	15	10	12	4	0	1	4	1	2	0	2	1	6	1	5	1	3	1	1	1	3	4	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:33619748G>A	ENST00000265371.4	-	3	661	c.136C>T	c.(136-138)Cat>Tat	p.H46Y	NRP1_ENST00000374816.3_Missense_Mutation_p.H46Y|NRP1_ENST00000374821.5_Missense_Mutation_p.H46Y|NRP1_ENST00000374822.4_Missense_Mutation_p.H46Y|NRP1_ENST00000374823.5_Missense_Mutation_p.H46Y|NRP1_ENST00000374867.2_Missense_Mutation_p.H46Y|NRP1_ENST00000395995.1_Missense_Mutation_p.H46Y			O14786	NRP1_HUMAN	neuropilin 1	46	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGATAAGAATGAGGATAACCA	0.418													24	30					0	0	0	0	A	33619748	G	A	33619748	3	1	18	1	0	0	0	0	1	0	0	0	10731	1290	45	2	2710	2	NRP1	10	33619748	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	16506180	33619748	101914999	101	4071											
ANKRD30A	91074	broad.mit.edu	37	chr10	37451602	37451602	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccggggaagccatctgccttCgaggtatttagttttatgat	8	14	11	8	2	1	1	0	1	1	0	2	3	1	2	3	3	2	2	3	3	4	6			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:37451602C>G	ENST00000374660.1	+	16	1857	c.1758C>G	c.(1756-1758)ttC>ttG	p.F586L	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.F586L|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.F586L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	642						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F586L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCTGCCTTCGAGGTATTTA	0.328													47	65					0	0	0	0	G	37451602	C	G	37451602	3	3	18	1	0	0	0	0	1	0	0	0	658	883	31	3	1820	3	ANKRD30A	10	37451602	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	3831854	37451602	98083145	102	4072											
BICC1	80114	broad.mit.edu	37	chr10	60559980	60559980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatataaaatatggtgcaatAtccacttcatcacttggaga	15	12	7	7	0	2	1	2	0	0	1	3	3	3	1	1	2	1	1	1	2	6	6			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:60559980A>G	ENST00000373886.3	+	13	1756	c.1752A>G	c.(1750-1752)atA>atG	p.I584M	BICC1_ENST00000263103.1_Missense_Mutation_p.I210M	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	584					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATGGTGCAATATCCACTTCAT	0.388													15	7					0	0	0	0	G	60559980	A	G	60559980	3	3	18	1	0	0	0	0	1	0	0	0	1432	439	16	5	1802	5	BICC1	10	60559980	Missense_Mutation	SNP	A	TCGA-BA-6871-01A-11D-1870-08	23108378	60559980	74974767	103	4073											
PIK3AP1	118788	broad.mit.edu	37	chr10	98469731	98469731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgatgaggatgtcgcatcctCtgggcacccctggacaagaa	10	7	12	12	2	1	2	0	1	1	1	3	5	2	4	3	3	0	2	3	3	2	0			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:98469731C>T	ENST00000339364.5	-	2	142	c.23G>A	c.(22-24)aGa>aAa	p.R8K		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	8						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCGCATCCTCTGGGCACCCC	0.592													13	51					0	0	0	0	T	98469731	C	T	98469731	3	4	18	1	0	0	0	0	1	0	0	0	11980	913	32	2	2458	2	PIK3AP1	10	98469731	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	37909751	98469731	37065016	104	4074											
TECTB	6975	broad.mit.edu	37	chr10	114044408	114044408	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttacaatggggtccaCgaaggaggttactaccaatt	11	11	11	8	1	0	0	0	0	0	0	1	2	1	1	2	4	3	2	2	4	6	4	rs146576556		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:114044408C>T	ENST00000369422.3	+	2	192	c.192C>T	c.(190-192)caC>caT	p.H64H		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	64	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		ATGGGGTCCACGAAGGAGGTT	0.488													25	14					0	0	0	0	T	114044408	C	T	114044408	2	4	18	1	0	0	0	0	0	0	0	1	15842	535	19	1		1	TECTB	10	114044408	Silent	SNP	C	TCGA-BA-6871-01A-11D-1870-08	15574677	114044408	21490339	105	4075											
PSTK	118672	broad.mit.edu	37	chr10	124742535	124742535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtctaccagctggctcGgaaatgtaattaaaactttt	13	13	8	7	1	1	1	0	1	1	0	2	2	1	2	1	2	3	3	1	2	6	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:124742535G>A	ENST00000405485.1	+	2	569	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	PSTK_ENST00000368887.3_Missense_Mutation_p.R168Q|PSTK_ENST00000497219.1_3'UTR			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	168							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		CAGCTGGCTCGGAAATGTAAT	0.313													58	61					0	0	0	0	A	124742535	G	A	124742535	3	1	18	1	0	0	0	0	1	0	0	0	12799	1116	39	1	509	1	PSTK	10	124742535	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	10698127	124742535	10792212	106	4076											
GPR26	2849	broad.mit.edu	37	chr10	125426287	125426287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccaagatgcgcctccgcGacgcggcgctcatggtggcc	5	5	16	15	6	1	1	1	0	0	1	2	2	2	1	4	4	1	1	4	4	1	0			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:125426287G>A	ENST00000284674.1	+	1	417	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	122					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGCCTCCGCGACGCGGCGCT	0.701													3	6					0	0	0	0	A	125426287	G	A	125426287	3	1	18	1	0	0	0	0	1	0	0	0	6733	1058	37	1	366	1	GPR26	10	125426287	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	683752	125426287	10108460	107	4077											
PSMC3	5702	broad.mit.edu	37	chr11	47444246	47444246	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgaacatctgcaccagctGggggccagccagctttagga	11	7	12	11	0	1	1	0	1	1	0	1	2	1	2	3	3	5	3	3	3	3	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:47444246G>C	ENST00000298852.3	-	8	920	c.763C>G	c.(763-765)Cag>Gag	p.Q255E	PSMC3_ENST00000602866.1_Missense_Mutation_p.Q239E|PSMC3_ENST00000530912.1_Missense_Mutation_p.Q213E	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	255					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCACCAGCTGGGGGCCAGCC	0.547													29	110					0	0	0	0	C	47444246	G	C	47444246	3	2	18	1	0	0	0	0	1	0	0	0	12766	1357	47	4	576	4	PSMC3	11	47444246	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08		47444246	87562270	108	4078											
OR8J3	81168	broad.mit.edu	37	chr11	55905136	55905136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaatctggagctctggaCagctagagacacctgtgaga	11	7	15	8	0	2	2	0	1	2	2	2	7	2	5	1	4	2	2	1	4	2	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:55905136C>T	ENST00000301529.1	-	1	58	c.59G>A	c.(58-60)tGt>tAt	p.C20Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAGCTCTGGACAGCTAGAGAC	0.478													33	93					0	0	0	0	T	55905136	C	T	55905136	3	4	18	1	0	0	0	0	1	0	0	0	11313	478	17	4	890	4	OR8J3	11	55905136	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	8460890	55905136	79101380	109	4079											
OR8K5	219453	broad.mit.edu	37	chr11	55927085	55927085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaaccacatgtggagaaagCctttttcctgccctctgcag	9	10	10	12	0	1	1	0	0	1	1	2	3	2	2	4	2	4	1	4	2	2	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:55927085C>A	ENST00000313447.1	-	1	708	c.709G>T	c.(709-711)Gct>Tct	p.A237S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237T(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTGGAGAAAGCCTTTTTCCTG	0.408													13	33					1.5842e-08	1.76949e-08	1	0	A	55927085	C	A	55927085	3	1	18	1	0	0	0	0	1	0	0	0	11316	739	26	4	217	4	OR8K5	11	55927085	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	21949	55927085	79079431	110	4080											
OR5M9	390162	broad.mit.edu	37	chr11	56230773	56230773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatatttcccaacagagtGatcatgtaaaccgctaggaa	15	9	7	10	1	1	2	1	1	0	1	2	3	2	3	3	1	2	2	3	1	7	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:56230773G>A	ENST00000279791.1	-	1	104	c.105C>T	c.(103-105)atC>atT	p.I35I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CCAACAGAGTGATCATGTAAA	0.443													15	27					0	0	0	0	A	56230773	G	A	56230773	2	1	18	1	0	0	0	0	0	0	0	1	11248	1280	45	2		2	OR5M9	11	56230773	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08	303688	56230773	78775743	111	4081											
CCDC87	55231	broad.mit.edu	37	chr11	66359037	66359037	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtactgccaacaaagttatCaatatccattttttcaatgg	14	14	5	8	0	2	0	2	0	0	0	3	0	3	0	2	1	3	2	2	1	7	6			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:66359037C>G	ENST00000333861.3	-	1	1517	c.1450G>C	c.(1450-1452)Gat>Cat	p.D484H		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	484										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACAAAGTTATCAATATCCATT	0.463													29	84					0	0	0	0	G	66359037	C	G	66359037	3	3	18	1	0	0	0	0	1	0	0	0	2889	826	29	2	1103	2	CCDC87	11	66359037	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	10128264	66359037	68647479	112	4082											
LRP5	4041	broad.mit.edu	37	chr11	68201226	68201226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcccagttcccctgcgcgcGgggtcagtgtgtggacctgc	3	8	15	15	4	1	0	1	0	0	0	2	1	2	1	4	3	2	1	4	3	0	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:68201226G>A	ENST00000294304.7	+	18	4026	c.3920G>A	c.(3919-3921)cGg>cAg	p.R1307Q		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1307	LDL-receptor class A 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTGCGCGCGGGGTCAGTGT	0.711													26	27					0	0	0	0	A	68201226	G	A	68201226	3	1	18	1	0	0	0	0	1	0	0	0	9024	1116	39	1	3990	1	LRP5	11	68201226	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	1842189	68201226	66805290	113	4083											
DDI1	414301	broad.mit.edu	37	chr11	103908425	103908425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgggctggggttgctaaagGagtgggcacacagagaatta	11	8	17	5	0	0	1	0	0	0	1	0	3	0	2	0	5	1	4	0	5	4	3	rs142985363		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:103908425G>A	ENST00000302259.3	+	1	1118	c.875G>A	c.(874-876)gGa>gAa	p.G292E	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	292					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GTTGCTAAAGGAGTGGGCACA	0.512													14	25					0	0	0	0	A	103908425	G	A	103908425	3	1	18	1	0	0	0	0	1	0	0	0	4360	1174	41	2	877	2	DDI1	11	103908425	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	35707199	103908425	31098091	114	4084											
CWF19L2	143884	broad.mit.edu	37	chr11	107207441	107207442	+	Splice_Site	INS	-	-	A																															caatgattttctgaacatctINSaaaaaaaaaaaagaactagg																										TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:107207441_107207442insA	ENST00000282251.5	-	15	2230		c.e15-2			NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)								catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCTGAACATCTAAAAAAAAAAA	0.257													2	4	---	---	---	---					A	107207442	-	A	107207441	8	5	18	1	0	1	1	0	0	0	1	0	4104	1536	53	0	499	0	CWF19L2	11	107207441	Splice_Site	INS	-	TCGA-BA-6871-01A-11D-1870-08	3299016	107207441	27799075	115	4085											
SIK2	23235	broad.mit.edu	37	chr11	111571713	111571713	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaagggcagcagtatgaAggaccacagctggacatctg	12	8	13	8	0	1	2	0	2	1	0	1	4	1	4	1	3	2	4	1	3	3	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:111571713A>G	ENST00000304987.3	+	5	755	c.582A>G	c.(580-582)gaA>gaG	p.E194E		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	194	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGCAGTATGAAGGACCACAGC	0.468													8	27					0	0	0	0	G	111571713	A	G	111571713	2	3	18	1	0	0	0	0	0	0	0	1	14406	69	3	5		5	SIK2	11	111571713	Silent	SNP	A	TCGA-BA-6871-01A-11D-1870-08	4364272	111571713	23434803	116	4086											
UBE4A	9354	broad.mit.edu	37	chr11	118260439	118260439	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactttggattcttttccaGagatcaagtcactctttgtg	9	16	8	8	0	4	2	2	0	2	2	5	4	5	3	1	1	0	0	1	1	1	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:118260439G>A	ENST00000252108.3	+	17	2718		c.e17-1		UBE4A_ENST00000545354.1_Splice_Site|UBE4A_ENST00000431736.2_Splice_Site	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A						ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTCTTTTCCAGAGATCAAGTC	0.433													25	84					0	0	0	0	A	118260439	G	A	118260439	5	1	18	1	0	0	0	0	0	0	1	0	16978	956	33	2	2670	2	UBE4A	11	118260439	Splice_Site	SNP	G	TCGA-BA-6871-01A-11D-1870-08	6688726	118260439	16746077	117	4087											
ARCN1	372	broad.mit.edu	37	chr11	118468432	118468432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaacaggtctggtgtcGgcgcgcctgttatcggtgag	6	10	14	11	4	2	1	1	1	1	0	4	1	2	1	1	4	1	1	1	4	2	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:118468432G>A	ENST00000359415.4	+	10	1540	c.1375G>A	c.(1375-1377)Ggc>Agc	p.G459S	ARCN1_ENST00000392859.3_Missense_Mutation_p.G330S|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000264028.4_Missense_Mutation_p.G418S			P48444	COPD_HUMAN	archain 1	418	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GTCTGGTGTCGGCGCGCCTGT	0.493													4	22					0	0	0	0	A	118468432	G	A	118468432	3	1	18	1	0	0	0	0	1	0	0	0	844	1116	39	1	1286	1	ARCN1	11	118468432	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	207993	118468432	16538084	118	4088											
CRTAM	56253	broad.mit.edu	37	chr11	122724650	122724650	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaatccattttgttctaGcaactcctttcaagccaatc	13	13	4	11	0	2	0	1	0	1	0	5	1	4	0	3	0	3	2	3	0	6	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:122724650G>T	ENST00000227348.4	+	4	393		c.e4-1			NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule						cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TTTTGTTCTAGCAACTCCTTT	0.398													10	35					3.07112e-06	3.33286e-06	1	0	T	122724650	G	T	122724650	5	4	18	1	0	0	0	0	0	0	1	0	3927	985	34	4	360	4	CRTAM	11	122724650	Splice_Site	SNP	G	TCGA-BA-6871-01A-11D-1870-08	4256218	122724650	12281866	119	4089											
VPS26B	112936	broad.mit.edu	37	chr11	134095034	134095034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgatgagcttcttcggcttCgggcagagcgtggaggtgga	6	9	18	8	4	1	2	0	1	1	1	3	5	1	4	0	5	2	3	0	5	0	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:134095034C>T	ENST00000281187.5	+	1	496	c.18C>T	c.(16-18)ttC>ttT	p.F6F	VPS26B_ENST00000525095.2_Silent_p.F6F	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	6					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TCTTCGGCTTCGGGCAGAGCG	0.627													5	10					0	0	0	0	T	134095034	C	T	134095034	2	4	18	1	0	0	0	0	0	0	0	1	17294	883	31	1		1	VPS26B	11	134095034	Silent	SNP	C	TCGA-BA-6871-01A-11D-1870-08	11370384	134095034	911482	120	4090											
ERC1	23085	broad.mit.edu	37	chr12	1250924	1250924	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggacatgttggatgtgaagGagcggaaggttaatgttctt	11	12	15	3	1	1	1	0	1	1	0	1	5	1	5	0	5	1	3	0	5	3	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:1250924G>T	ENST00000397203.2	+	8	2114	c.1708G>T	c.(1708-1710)Gag>Tag	p.E570*	ERC1_ENST00000543086.3_Nonsense_Mutation_p.E542*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E570*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E570*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.E570*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Nonsense_Mutation_p.E570*			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	570					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGATGTGAAGGAGCGGAAGGT	0.423													16	275					1.15088e-07	1.27062e-07	1	0	T	1250924	G	T	1250924	4	4	18	1	0	0	0	0	0	1	0	0	5248	1175	41	2	1734	2	ERC1	12	1250924	Nonsense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08		1250924	132600971	121	4091											
NCAPD2	9918	broad.mit.edu	37	chr12	6639016	6639016	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcgaggcctccgtaagatGcttgacaattttgactgttt	9	13	11	8	2	0	3	0	2	0	1	1	5	1	3	2	1	2	3	2	1	2	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:6639016G>C	ENST00000315579.5	+	29	4528	c.3729G>C	c.(3727-3729)atG>atC	p.M1243I	NCAPD2_ENST00000545962.1_Missense_Mutation_p.M1198I	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1243					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TCCGTAAGATGCTTGACAATT	0.532													392	84					0	0	0	0	C	6639016	G	C	6639016	3	2	18	1	0	0	0	0	1	0	0	0	10275	1319	46	4	3839	4	NCAPD2	12	6639016	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	5388092	6639016	127212879	122	4092											
DDX11	1663	broad.mit.edu	37	chr12	31253973	31253973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccaggtcacgtgatccCtccagacaacatcctgcccc	9	8	6	18	1	1	2	1	1	0	1	4	2	4	2	6	1	3	0	6	1	2	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:31253973C>T	ENST00000407793.2	+	20	2212	c.1961C>T	c.(1960-1962)cCt>cTt	p.P654L	DDX11_ENST00000542838.1_Missense_Mutation_p.P654L|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.P654L|DDX11_ENST00000228264.6_Missense_Mutation_p.P628L|DDX11_ENST00000545668.1_Missense_Mutation_p.P654L	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	654					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	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)					CACGTGATCCCTCCAGACAAC	0.582										Multiple Myeloma(12;0.14)			15	114					0	0	0	0	T	31253973	C	T	31253973	3	4	18	1	0	0	0	0	1	0	0	0	4375	681	24	4	2035	4	DDX11	12	31253973	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	24614957	31253973	102597922	123	4093											
STAT2	6773	broad.mit.edu	37	chr12	56743976	56743976	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttgaacttccggaagcTgttccaggaggaagatacat	13	10	11	7	1	0	2	0	1	0	1	2	5	2	5	2	3	3	3	2	3	5	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:56743976T>A	ENST00000314128.4	-	13	1139		c.e13-2		STAT2_ENST00000418572.2_Splice_Site|STAT2_ENST00000557235.1_Splice_Site			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa						interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTCCGGAAGCTGTTCCAGGAG	0.423													29	83					0	0	0	0	A	56743976	T	A	56743976	5	1	18	1	0	0	0	0	0	0	1	0	15355	1594	55	5	1489	5	STAT2	12	56743976	Splice_Site	SNP	T	TCGA-BA-6871-01A-11D-1870-08	25490003	56743976	77107919	124	4094											
NR2C1	7181	broad.mit.edu	37	chr12	95451597	95451597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agattttttctgttgaagcgGcacagttggaagatttttct	9	17	10	5	1	2	3	0	1	2	2	2	4	2	4	0	2	1	3	0	2	2	7			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:95451597G>A	ENST00000333003.5	-	6	932	c.602C>T	c.(601-603)gCc>gTc	p.A201V	NR2C1_ENST00000393101.3_Missense_Mutation_p.A201V|NR2C1_ENST00000330677.7_Missense_Mutation_p.A201V|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	201					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGTTGAAGCGGCACAGTTGGA	0.343													4	147					0	0	0	0	A	95451597	G	A	95451597	3	1	18	1	0	0	0	0	1	0	0	0	10693	1203	42	4	1323	4	NR2C1	12	95451597	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	38707621	95451597	38400298	125	4095											
RIMBP2	23504	broad.mit.edu	37	chr12	130921646	130921646	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaacttgctaatggctttGattggggtgcaggtctcggg	7	12	15	7	1	1	2	0	1	1	1	2	2	1	2	0	5	3	3	0	5	2	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:130921646G>C	ENST00000261655.4	-	10	1959	c.1796C>G	c.(1795-1797)tCa>tGa	p.S599*	RIMBP2_ENST00000536002.1_Nonsense_Mutation_p.S507*|RIMBP2_ENST00000535703.1_Nonsense_Mutation_p.S507*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	599	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TAATGGCTTTGATTGGGGTGC	0.652													4	16					0	0	0	0	C	130921646	G	C	130921646	4	2	18	1	0	0	0	0	0	1	0	0	13446	1294	45	2	1402	2	RIMBP2	12	130921646	Nonsense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	35470049	130921646	2930249	126	4096											
NBEA	26960	broad.mit.edu	37	chr13	35685031	35685031	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatacgcagagtaggaacaGtattacagctaatgcacacc	15	7	8	11	1	0	1	0	0	0	1	0	2	0	2	2	1	5	5	2	1	6	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr13:35685031G>C	ENST00000400445.3	+	13	2452	c.1918G>C	c.(1918-1920)Gta>Cta	p.V640L	NBEA_ENST00000379939.2_Missense_Mutation_p.V640L|NBEA_ENST00000310336.4_Missense_Mutation_p.V640L|NBEA_ENST00000540320.1_Missense_Mutation_p.V640L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	640						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTAGGAACAGTATTACAGCT	0.373													19	43					0	0	0	0	C	35685031	G	C	35685031	3	2	18	1	0	0	0	0	1	0	0	0	10257	1029	36	4	1968	4	NBEA	13	35685031	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08		35685031	79484847	127	4097											
SLITRK5	26050	broad.mit.edu	37	chr13	88330088	88330088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccgccgcagctgcagctGcagcccggggaggaggagag	7	2	17	15	3	0	1	0	0	0	1	0	4	0	3	4	4	5	5	4	4	0	0			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr13:88330088G>A	ENST00000325089.6	+	2	2664	c.2445G>A	c.(2443-2445)ctG>ctA	p.L815L	SLITRK5_ENST00000400028.3_Silent_p.L574L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	815						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					agctgcagctgcagcCCGGGG	0.711													3	6					0	0	0	0	A	88330088	G	A	88330088	2	1	18	1	0	0	0	0	0	0	0	1	14834	1306	46	4		4	SLITRK5	13	88330088	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08	52645057	88330088	26839790	128	4098											
IPO5	3843	broad.mit.edu	37	chr13	98668033	98668033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgaagagtcactacaagatGaggtaagttattccctttgg	12	12	10	7	1	1	3	1	1	0	2	3	4	2	3	1	2	1	2	1	2	5	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr13:98668033G>A	ENST00000261574.5	+	24	2725	c.2545G>A	c.(2545-2547)Gag>Aag	p.E849K	IPO5_ENST00000539640.1_Missense_Mutation_p.E706K|IPO5_ENST00000490680.1_Missense_Mutation_p.E831K	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	831					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ACTACAAGATGAGGTAAGTTA	0.358													11	27					0	0	0	0	A	98668033	G	A	98668033	3	1	18	1	0	0	0	0	1	0	0	0	7849	1291	45	2	2631	2	IPO5	13	98668033	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	10337945	98668033	16501845	129	4099											
MYH6	4624	broad.mit.edu	37	chr14	23866199	23866199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtccccgtagaggatgCggttggggaagcccttcctg	7	8	16	10	2	0	1	0	0	0	1	2	4	2	4	4	5	2	2	4	5	3	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr14:23866199C>T	ENST00000405093.3	-	18	2211	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	MYH6_ENST00000356287.3_Missense_Mutation_p.R714H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	714	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTAGAGGATGCGGTTGGGGAA	0.632													3	38					0	0	0	0	T	23866199	C	T	23866199	3	4	18	1	0	0	0	0	1	0	0	0	10108	768	27	1	3766	1	MYH6	14	23866199	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08		23866199	83483341	130	4100											
PPP2R5E	5529	broad.mit.edu	37	chr14	63860550	63860550	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcctacctgtgcatggaaGagtgataagctcctgacagt	10	10	10	11	0	0	3	0	2	0	1	2	4	2	4	4	1	3	2	4	1	3	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr14:63860550G>C	ENST00000337537.3	-	8	1439	c.837C>G	c.(835-837)ctC>ctG	p.L279L	PPP2R5E_ENST00000422769.2_Silent_p.L203L|PPP2R5E_ENST00000555899.1_Silent_p.L279L|PPP2R5E_ENST00000553266.1_5'UTR	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	279					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GTGCATGGAAGAGTGATAAGC	0.348													6	10					0	0	0	0	C	63860550	G	C	63860550	2	2	18	1	0	0	0	0	0	0	0	1	12472	929	33	2		2	PPP2R5E	14	63860550	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08	39994351	63860550	43488990	131	4101											
SMEK1	55671	broad.mit.edu	37	chr14	91948149	91948149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttcgtggttgtgataaaGcaggatcatattctaaacat	12	15	9	5	1	2	1	1	1	1	0	3	2	2	2	0	2	2	3	0	2	5	7			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr14:91948149G>A	ENST00000554684.1	-	4	1182	c.686C>T	c.(685-687)gCt>gTt	p.A229V	SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000554943.1_Missense_Mutation_p.A229V|SMEK1_ENST00000337238.4_Missense_Mutation_p.A229V|SMEK1_ENST00000428424.2_Intron			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	229						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TTGTGATAAAGCAGGATCATA	0.348													19	38					0	0	0	0	A	91948149	G	A	91948149	3	1	18	1	0	0	0	0	1	0	0	0	14881	971	34	4	1824	4	SMEK1	14	91948149	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	28087599	91948149	15401391	132	4102											
ATP10A	57194	broad.mit.edu	37	chr15	25966813	25966813	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagactcaccatttgcatCatgagaatattctacaccag	13	10	5	13	0	3	2	2	1	1	2	3	3	3	2	3	0	2	1	3	0	3	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr15:25966813C>G	ENST00000356865.6	-	7	1465	c.1354G>C	c.(1354-1356)Gat>Cat	p.D452H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	452					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCATTTGCATCATGAGAATAT	0.468													17	69					0	0	0	0	G	25966813	C	G	25966813	3	3	18	1	0	0	0	0	1	0	0	0	1120	826	29	2	3205	2	ATP10A	15	25966813	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08		25966813	76564579	133	4103											
HERC2	8924	broad.mit.edu	37	chr15	28358347	28358347	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctcccagaaccactggAtcagcgatgcggaaggctcg	10	6	11	14	3	2	1	2	0	0	1	4	4	3	3	3	3	3	1	3	3	2	0			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr15:28358347A>G	ENST00000261609.7	-	92	14210	c.14102T>C	c.(14101-14103)aTc>aCc	p.I4701T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4701	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAACCACTGGATCAGCGATGC	0.607													11	48					0	0	0	0	G	28358347	A	G	28358347	3	3	18	1	0	0	0	0	1	0	0	0	7108	333	12	5	410	5	HERC2	15	28358347	Missense_Mutation	SNP	A	TCGA-BA-6871-01A-11D-1870-08	2391534	28358347	74173045	134	4104											
CGNL1	84952	broad.mit.edu	37	chr15	57815716	57815716	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcagactacccaggagcaGaagcagttgtctgagaagct	13	7	12	9	0	2	3	1	1	1	3	2	5	2	4	1	1	4	4	1	1	3	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr15:57815716G>A	ENST00000281282.5	+	11	2823	c.2745G>A	c.(2743-2745)caG>caA	p.Q915Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	915						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCCAGGAGCAGAAGCAGTTGT	0.532													43	20					0	0	0	0	A	57815716	G	A	57815716	2	1	18	1	0	0	0	0	0	0	0	1	3333	933	33	2		2	CGNL1	15	57815716	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08	29457369	57815716	44715676	135	4105											
GRIN2A	2903	broad.mit.edu	37	chr16	10274118	10274118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggccccacagtgttcgaaGttcgcgctctgtcacgtcgt	5	10	13	13	5	2	0	1	0	1	0	5	1	2	0	2	2	0	3	2	2	1	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:10274118G>C	ENST00000396573.2	-	3	460	c.151C>G	c.(151-153)Ctt>Gtt	p.L51V	GRIN2A_ENST00000330684.3_Missense_Mutation_p.L51V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L51V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L51V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L51V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	51					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGTGTTCGAAGTTCGCGCTCT	0.682													16	93					0	0	0	0	C	10274118	G	C	10274118	3	2	18	1	0	0	0	0	1	0	0	0	6829	1029	36	4	4291	4	GRIN2A	16	10274118	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08		10274118	80080635	136	4106											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25268325	25268325	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagcatttgcggaaggtctCagagctatccgatccttcca	10	10	10	11	2	1	1	1	0	1	1	5	4	4	2	3	2	3	2	3	2	3	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:25268325C>G	ENST00000328086.7	-	1	927	c.124G>C	c.(124-126)Gag>Cag	p.E42Q		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	42					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CGGAAGGTCTCAGAGCTATCC	0.522											OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	40					0	0	0	0	G	25268325	C	G	25268325	3	3	18	1	0	0	0	0	1	0	0	0	17782	835	29	2	2807	2	ZKSCAN2	16	25268325	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	14994207	25268325	65086428	137	4107											
CPNE2	221184	broad.mit.edu	37	chr16	57149418	57149418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaagaagatcactaggcctCtgctgctgctgaatgacaag	12	8	11	10	0	2	4	1	2	1	2	2	4	2	4	1	1	3	4	1	1	5	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:57149418C>T	ENST00000535318.2	+	5	752	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	CPNE2_ENST00000565874.1_Silent_p.L131L|CPNE2_ENST00000537605.1_Silent_p.L29L|CPNE2_ENST00000290776.8_Silent_p.L131L			Q96FN4	CPNE2_HUMAN	copine II	131										central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CACTAGGCCTCTGCTGCTGCT	0.622													14	46					0	0	0	0	T	57149418	C	T	57149418	2	4	18	1	0	0	0	0	0	0	0	1	3842	912	32	2		2	CPNE2	16	57149418	Silent	SNP	C	TCGA-BA-6871-01A-11D-1870-08	31881093	57149418	33205335	138	4108											
CPNE2	221184	broad.mit.edu	37	chr16	57153158	57153158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttttataagccaggagacGatggcaagtggatgctggtc	11	10	14	6	1	0	1	0	0	0	1	1	4	0	2	1	4	2	3	1	4	3	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:57153158G>A	ENST00000535318.2	+	7	920	c.559G>A	c.(559-561)Gat>Aat	p.D187N	CPNE2_ENST00000565874.1_Missense_Mutation_p.D187N|CPNE2_ENST00000537605.1_Missense_Mutation_p.D85N|CPNE2_ENST00000290776.8_Missense_Mutation_p.D187N			Q96FN4	CPNE2_HUMAN	copine II	187	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GCCAGGAGACGATGGCAAGTG	0.587													30	90					0	0	0	0	A	57153158	G	A	57153158	3	1	18	1	0	0	0	0	1	0	0	0	3842	1058	37	1	577	1	CPNE2	16	57153158	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	3740	57153158	33201595	139	4109											
OR3A2	4995	broad.mit.edu	37	chr17	3181289	3181289	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtgatctcctccccaaaAatatttgccacagagcaccc	12	9	5	15	0	2	2	1	1	1	1	4	2	3	2	5	0	2	1	5	0	3	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:3181289A>C	ENST00000408891.2	-	1	979	c.941T>G	c.(940-942)tTt>tGt	p.F314C		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	314					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CCTCCCCAAAAATATTTGCCA	0.463													8	48					0	0	0	0	C	3181289	A	C	3181289	3	2	18	1	0	0	0	0	1	0	0	0	11109	14	1	5	28	5	OR3A2	17	3181289	Missense_Mutation	SNP	A	TCGA-BA-6871-01A-11D-1870-08		3181289	78013921	140	4110											
ZNF594	84622	broad.mit.edu	37	chr17	5085147	5085147	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctatgatgtctcagaaggtCtgagctctgattgagttttc	8	16	10	7	0	4	5	1	4	4	1	6	5	4	5	0	1	1	2	0	1	2	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:5085147C>G	ENST00000399604.4	-	1	2545	c.2405G>C	c.(2404-2406)aGa>aCa	p.R802T	ZNF594_ENST00000575779.1_Missense_Mutation_p.R802T			Q96JF6	ZN594_HUMAN	zinc finger protein 594	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTCAGAAGGTCTGAGCTCTGA	0.403													40	114					0	0	0	0	G	5085147	C	G	5085147	3	3	18	1	0	0	0	0	1	0	0	0	18119	913	32	2	22	2	ZNF594	17	5085147	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	1903858	5085147	76110063	141	4111											
ZNF624	57547	broad.mit.edu	37	chr17	16527489	16527489	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaaatgggtatctgtaatCaaatttaaattctctgtgaa	14	14	6	7	0	3	1	1	1	2	0	4	1	3	1	1	1	0	2	1	1	7	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:16527489C>G	ENST00000311331.7	-	6	802	c.711G>C	c.(709-711)ttG>ttC	p.L237F		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TATCTGTAATCAAATTTAAAT	0.383													22	66					0	0	0	0	G	16527489	C	G	16527489	3	3	18	1	0	0	0	0	1	0	0	0	18143	825	29	2	1890	2	ZNF624	17	16527489	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	11442342	16527489	64667721	142	4112											
PROCA1	147011	broad.mit.edu	37	chr17	27038611	27038611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcatctgctctcatcccacGagcgggccttgggctcggtc	4	9	13	15	3	2	0	1	0	2	0	6	1	3	0	2	4	2	3	2	4	0	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:27038611G>C	ENST00000301039.2	-	1	261	c.68C>G	c.(67-69)tCg>tGg	p.S23W	PROCA1_ENST00000581289.1_Missense_Mutation_p.S23W	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	23					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CTCATCCCACGAGCGGGCCTT	0.672													6	209					0	0	0	0	C	27038611	G	C	27038611	3	2	18	1	0	0	0	0	1	0	0	0	12626	1059	37	3	958	3	PROCA1	17	27038611	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	10511122	27038611	54156599	143	4113											
RPTOR	57521	broad.mit.edu	37	chr17	78858859	78858859	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgttcgtgggcaactctgcaGagaggacggaccactccacc	9	6	12	14	3	1	1	0	0	1	1	3	4	2	3	3	3	2	3	3	3	1	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:78858859G>C	ENST00000306801.3	+	17	2256	c.1894G>C	c.(1894-1896)Gag>Cag	p.E632Q	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	632					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CAACTCTGCAGAGAGGACGGA	0.672													4	13					0	0	0	0	C	78858859	G	C	78858859	3	2	18	1	0	0	0	0	1	0	0	0	13750	943	33	2	1960	2	RPTOR	17	78858859	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	51820248	78858859	2336351	144	4114											
SETBP1	26040	broad.mit.edu	37	chr18	42530340	42530340	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaaagatgtgataagtcaGaccataccaaacccagacct	19	6	6	10	0	1	4	1	1	0	3	1	4	1	4	4	0	2	0	4	0	6	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr18:42530340G>A	ENST00000282030.5	+	4	1331	c.1035G>A	c.(1033-1035)caG>caA	p.Q345Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	345						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGATAAGTCAGACCATACCAA	0.483									Schinzel-Giedion syndrome				13	35					0	0	0	0	A	42530340	G	A	42530340	2	1	18	1	0	0	0	0	0	0	0	1	14216	933	33	2		2	SETBP1	18	42530340	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08		42530340	35546908	145	4115											
TRIP10	9322	broad.mit.edu	37	chr19	6743214	6743214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttctgtagcacttccaaGaagggcggcgggcccagcag	8	8	13	12	2	2	1	0	0	2	1	3	1	3	1	2	3	2	3	2	3	3	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:6743214G>C	ENST00000600428.1	+	5	677	c.31G>C	c.(31-33)Gaa>Caa	p.E11Q	TRIP10_ENST00000313285.8_Missense_Mutation_p.E119Q|TRIP10_ENST00000313244.9_Missense_Mutation_p.E119Q|TRIP10_ENST00000596758.1_Missense_Mutation_p.E119Q			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	119	FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GCACTTCCAAGAAGGGCGGCG	0.562													9	16					0	0	0	0	C	6743214	G	C	6743214	3	2	18	1	0	0	0	0	1	0	0	0	16649	943	33	2	373	2	TRIP10	19	6743214	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08		6743214	52385769	146	4116											
COL5A3	50509	broad.mit.edu	37	chr19	10107155	10107155	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcctgctggaatgagActggggggcctttaaaggag	8	8	17	8	0	0	1	0	1	0	1	0	4	0	3	3	6	1	1	3	6	3	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:10107155A>T	ENST00000264828.3	-	13	1461	c.1376T>A	c.(1375-1377)gTc>gAc	p.V459D	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	459	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTGGAATGAGACTGGGGGGCC	0.597													13	41					0	0	0	0	T	10107155	A	T	10107155	3	4	18	1	0	0	0	0	1	0	0	0	3728	275	10	5	4081	5	COL5A3	19	10107155	Missense_Mutation	SNP	A	TCGA-BA-6871-01A-11D-1870-08	3363941	10107155	49021828	147	4117											
JAK3	3718	broad.mit.edu	37	chr19	17942159	17942159	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctccacgaggatgtttcgGgcggccaggtcgcggtgcac	5	8	15	13	5	1	0	0	0	1	0	4	2	1	1	2	5	1	2	2	5	0	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:17942159G>T	ENST00000458235.1	-	21	2955	c.2856C>A	c.(2854-2856)gcC>gcA	p.A952A	JAK3_ENST00000527670.1_Silent_p.A952A|JAK3_ENST00000534444.1_Silent_p.A952A	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	952	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGATGTTTCGGGCGGCCAGGT	0.652		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								26	107					5.77227e-19	6.72258e-19	1	0	T	17942159	G	T	17942159	2	4	18	1	0	0	0	0	0	0	0	1	7992	1219	43	4		4	JAK3	19	17942159	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08	7835004	17942159	41186824	148	4118											
KIAA1683	80726	broad.mit.edu	37	chr19	18377335	18377335	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactggatatgtctggagtaGagtcttggtgatcatgggcc	8	12	14	7	0	3	2	1	1	2	1	3	4	3	4	1	4	0	1	1	4	2	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:18377335G>C	ENST00000392413.3	-	3	1230	c.1015C>G	c.(1015-1017)Cta>Gta	p.L339V	KIAA1683_ENST00000600328.2_Missense_Mutation_p.L339V|KIAA1683_ENST00000600359.2_Missense_Mutation_p.L293V	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	339	Thr-rich.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTCTGGAGTAGAGTCTTGGTG	0.567													13	53					0	0	0	0	C	18377335	G	C	18377335	3	2	18	1	0	0	0	0	1	0	0	0	8302	933	33	2	3096	2	KIAA1683	19	18377335	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	435176	18377335	40751648	149	4119											
ZNF383	163087	broad.mit.edu	37	chr19	37733511	37733511	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagatgttttggaatatagaAgccaccttgcaaaacaactg	15	10	9	7	0	0	2	0	0	0	2	0	4	0	3	2	1	4	2	2	1	7	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:37733511A>G	ENST00000589413.1	+	8	956	c.373A>G	c.(373-375)Agc>Ggc	p.S125G	ZNF383_ENST00000352998.3_Missense_Mutation_p.S125G|ZNF383_ENST00000590503.1_Missense_Mutation_p.S125G			Q8NA42	ZN383_HUMAN	zinc finger protein 383	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAATATAGAAGCCACCTTGC	0.383													46	87					0	0	0	0	G	37733511	A	G	37733511	3	3	18	1	0	0	0	0	1	0	0	0	17969	72	3	5	387	5	ZNF383	19	37733511	Missense_Mutation	SNP	A	TCGA-BA-6871-01A-11D-1870-08	19356176	37733511	21395472	150	4120											
SAMD4B	55095	broad.mit.edu	37	chr19	39860463	39860463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgctttcatcgaggagaGtcgccagctgctttcctatg	8	12	10	11	2	1	1	1	0	0	1	4	3	2	1	2	1	3	3	2	1	2	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:39860463G>A	ENST00000314471.6	+	6	1400	c.365G>A	c.(364-366)aGt>aAt	p.S122N	SAMD4B_ENST00000596368.1_Missense_Mutation_p.S122N|SAMD4B_ENST00000598913.1_Missense_Mutation_p.S122N	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	122							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATCGAGGAGAGTCGCCAGCTG	0.587													9	22					0	0	0	0	A	39860463	G	A	39860463	3	1	18	1	0	0	0	0	1	0	0	0	13907	1029	36	4	371	4	SAMD4B	19	39860463	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	2126952	39860463	19268520	151	4121											
TMEM145	284339	broad.mit.edu	37	chr19	42827922	42827922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacggagctcttctccaTccccccgcccgccacctccg	4	8	6	23	4	3	0	1	0	2	0	6	1	5	1	8	1	1	1	8	1	0	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:42827922T>C	ENST00000301204.3	+	14	1423	c.1382T>C	c.(1381-1383)aTc>aCc	p.I461T		NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	461						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CTCTTCTCCATCCCCCCGCCC	0.706													3	53					0	0	0	0	C	42827922	T	C	42827922	3	2	18	1	0	0	0	0	1	0	0	0	16153	1435	50	5	1436	5	TMEM145	19	42827922	Missense_Mutation	SNP	T	TCGA-BA-6871-01A-11D-1870-08	2967459	42827922	16301061	152	4122											
CCDC114	93233	broad.mit.edu	37	chr19	48800482	48800482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgaggcactggtggagccGaaggtcacgtggccagtgtt	7	8	16	10	3	1	0	1	0	0	0	2	3	1	1	2	5	1	2	2	5	1	1			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:48800482G>A	ENST00000315396.7	-	14	2446	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	588										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TGGTGGAGCCGAAGGTCACGT	0.657													13	18					0	0	0	0	A	48800482	G	A	48800482	2	1	18	1	0	0	0	0	0	0	0	1	2776	1049	37	1		1	CCDC114	19	48800482	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08	5972560	48800482	10328501	153	4123											
GPR32	2854	broad.mit.edu	37	chr19	51273921	51273921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctggggtcctgacacgtGatcgctcttgttccaggaag	8	10	12	11	2	1	2	0	2	1	0	4	3	3	3	3	3	1	2	3	3	2	2			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:51273921G>A	ENST00000270590.4	+	1	201	c.64G>A	c.(64-66)Gat>Aat	p.D22N		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	22						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTGACACGTGATCGCTCTTG	0.527													11	15					0	0	0	0	A	51273921	G	A	51273921	3	1	18	1	0	0	0	0	1	0	0	0	6737	1290	45	2	66	2	GPR32	19	51273921	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08	2473439	51273921	7855062	154	4124											
C20orf194	25943	broad.mit.edu	37	chr20	3311319	3311319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagttttcttgggcagcttGctgtcaccacctgtgaaaga	8	13	10	10	0	3	2	2	1	1	1	3	2	3	2	2	1	2	4	2	1	1	4			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr20:3311319G>T	ENST00000252032.9	-	12	1141	c.1074C>A	c.(1072-1074)agC>agA	p.S358R	C20orf194_ENST00000453730.2_Missense_Mutation_p.S97R	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	358										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGGGCAGCTTGCTGTCACCAC	0.388													7	17					0.00307968	0.00324983	1	0	T	3311319	G	T	3311319	3	4	18	1	0	0	0	0	1	0	0	0	2119	1310	46	4	2563	4	C20orf194	20	3311319	Missense_Mutation	SNP	G	TCGA-BA-6871-01A-11D-1870-08		3311319	59714201	155	4125											
PRAME	23532	broad.mit.edu	37	chr22	22892735	22892735	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagttcttccgtaaatcCagcacttgaagtttccacct	10	13	7	11	1	1	2	0	2	1	1	4	3	4	2	4	0	1	4	4	0	3	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr22:22892735C>G	ENST00000543184.1	-	4	1228	c.366G>C	c.(364-366)ctG>ctC	p.L122L	PRAME_ENST00000398743.2_Silent_p.L122L|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000424204.2_Silent_p.L106L|PRAME_ENST00000398741.1_Silent_p.L122L|PRAME_ENST00000539862.1_Silent_p.L106L|PRAME_ENST00000402697.1_Silent_p.L122L|PRAME_ENST00000405655.3_Silent_p.L122L	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	122					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCCGTAAATCCAGCACTTGAA	0.448													8	47					0	0	0	0	G	22892735	C	G	22892735	2	3	18	1	0	0	0	0	0	0	0	1	12500	581	21	4		4	PRAME	22	22892735	Silent	SNP	C	TCGA-BA-6871-01A-11D-1870-08		22892735	28411831	156	4126											
PRDX4	10549	broad.mit.edu	37	chrX	23700512	23700512	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccattcttctgttttacaGaggtctcttcattattgatg	8	19	6	8	0	4	2	1	1	3	1	5	2	4	2	1	1	2	1	1	1	3	8			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chrX:23700512G>A	ENST00000379341.4	+	5	724		c.e5-1			NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4						cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTGTTTTACAGAGGTCTCTTC	0.368													16	25					0	0	0	0	A	23700512	G	A	23700512	5	1	18	1	0	0	0	0	0	0	1	0	12547	956	33	2	617	2	PRDX4	23	23700512	Splice_Site	SNP	G	TCGA-BA-6871-01A-11D-1870-08		23700512	131570048	157	4127											
RPGR	6103	broad.mit.edu	37	chrX	38145068	38145068	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttcccctcttcttcctcctCctcttctctgttcctcctgt	0	19	2	20	0	4	0	0	0	4	0	11	0	10	0	7	0	0	1	7	0	0	5			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chrX:38145068C>G	ENST00000378505.2	-	15	3360	c.3184G>C	c.(3184-3186)Gag>Cag	p.E1062Q	RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	845					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tcttcctcctcctcttctctg	0.488													39	31					0	0	0	0	G	38145068	C	G	38145068	3	3	18	1	0	0	0	0	1	0	0	0	13633	864	30	2	837	2	RPGR	23	38145068	Missense_Mutation	SNP	C	TCGA-BA-6871-01A-11D-1870-08	14444556	38145068	117125492	158	4128											
HUWE1	10075	broad.mit.edu	37	chrX	53631658	53631658	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtagcatcagcaacattGcctgcgcaagccagttctcg	10	8	11	12	2	2	0	1	0	1	0	3	0	2	0	2	1	6	5	2	1	3	3			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chrX:53631658G>A	ENST00000342160.3	-	25	3091	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	HUWE1_ENST00000262854.6_Silent_p.G878G|HUWE1_ENST00000218328.8_Silent_p.G878G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	878					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGCAACATTGCCTGCGCAAG	0.562													8	17					0	0	0	0	A	53631658	G	A	53631658	2	1	18	1	0	0	0	0	0	0	0	1	7514	1306	46	4		4	HUWE1	23	53631658	Silent	SNP	G	TCGA-BA-6871-01A-11D-1870-08	15486590	53631658	101638902	159	4129											
CLCNKB	1188	broad.mit.edu	37	chr1	16380141	16380141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcctgcagttcccacCgcgtgagggtggagcacttc	5	9	12	15	2	1	1	0	1	1	0	3	2	2	2	4	2	3	3	4	2	0	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:16380141C>T	ENST00000375679.4	+	16	1741	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R375C	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTTCCCACCGCGTGAGGGT	0.622													3	67					0	0	0	0	T	16380141	C	T	16380141	3	4	19	1	0	0	0	0	1	0	0	0	3500	652	23	1	1836	1	CLCNKB	1	16380141	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08		16380141	232870480	1	4130											
CYP4A11	1579	broad.mit.edu	37	chr1	47398701	47398701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtggtgaaggccataaatgGagaggaggaccatgatacct	13	8	14	6	0	0	3	0	2	0	1	0	6	0	5	3	5	1	0	3	5	4	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:47398701G>A	ENST00000310638.4	-	10	1272	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000371904.4_Missense_Mutation_p.S415F|CYP4A11_ENST00000371905.1_Missense_Mutation_p.S414F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	414					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCCATAAATGGAGAGGAGGAC	0.507													84	357					0	0	0	0	A	47398701	G	A	47398701	3	1	19	1	0	0	0	0	1	0	0	0	4215	1174	41	2	330	2	CYP4A11	1	47398701	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	31018560	47398701	201851920	2	4131											
JAK1	3716	broad.mit.edu	37	chr1	65300341	65300341	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcataagttgataaacCtgtaaaaagaaagaagtaac	19	10	6	6	0	1	3	1	1	0	2	2	3	2	3	2	0	2	3	2	0	9	6			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:65300341C>T	ENST00000342505.4	-	25	3618		c.e25-1			NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1						interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GTTGATAAACCTGTAAAAAGA	0.303			Mis		ALL								15	47					0	0	0	0	T	65300341	C	T	65300341	5	4	19	1	0	0	0	0	0	0	1	0	7990	695	24	4	99	4	JAK1	1	65300341	Splice_Site	SNP	C	TCGA-BA-6872-01A-11D-1870-08	17901640	65300341	183950280	3	4132											
LEPR	3953	broad.mit.edu	37	chr1	66064395	66064395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtagacagtatacttcctgGgtcttcgtatgaggttcagg	9	13	12	7	1	2	2	1	1	1	1	4	2	3	2	1	3	1	4	1	3	4	7			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:66064395G>A	ENST00000349533.6	+	8	1087	c.902G>A	c.(901-903)gGg>gAg	p.G301E	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.G301E|LEPR_ENST00000371059.3_Missense_Mutation_p.G301E|LEPR_ENST00000371060.3_Missense_Mutation_p.G301E|LEPR_ENST00000344610.8_Missense_Mutation_p.G301E	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	301	Fibronectin type-III 1.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATACTTCCTGGGTCTTCGTAT	0.448													17	48					0	0	0	0	A	66064395	G	A	66064395	3	1	19	1	0	0	0	0	1	0	0	0	8781	1232	43	4	924	4	LEPR	1	66064395	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	764054	66064395	183186226	4	4133											
IL12RB2	3595	broad.mit.edu	37	chr1	67793933	67793933	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagcaatgtaaagacatttAttgtgactatttggactttg	13	15	9	4	0	0	2	0	1	0	1	0	4	0	3	0	1	1	2	0	1	6	7			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:67793933A>C	ENST00000262345.1	+	5	1170	c.530A>C	c.(529-531)tAt>tCt	p.Y177S	IL12RB2_ENST00000371000.1_Missense_Mutation_p.Y177S|IL12RB2_ENST00000544434.1_Missense_Mutation_p.Y177S|IL12RB2_ENST00000541374.1_Missense_Mutation_p.Y177S	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	177	Fibronectin type-III 1.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AAAGACATTTATTGTGACTAT	0.398													56	70					0	0	0	0	C	67793933	A	C	67793933	3	2	19	1	0	0	0	0	1	0	0	0	7680	449	16	5	544	5	IL12RB2	1	67793933	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	1729538	67793933	181456688	5	4134											
MSH4	4438	broad.mit.edu	37	chr1	76272747	76272747	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggacttgccagaggtgAaataggaatggcaagtattg	14	8	15	4	0	0	3	0	1	0	2	0	6	0	5	1	4	1	2	1	4	5	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:76272747A>G	ENST00000263187.3	+	3	613	c.509A>G	c.(508-510)gAa>gGa	p.E170G		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	170					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GCCAGAGGTGAAATAGGAATG	0.363								Mismatch excision repair (MMR)					19	52					0	0	0	0	G	76272747	A	G	76272747	3	3	19	1	0	0	0	0	1	0	0	0	9942	246	9	5	519	5	MSH4	1	76272747	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	8478814	76272747	172977874	6	4135											
LPHN2	23266	broad.mit.edu	37	chr1	82415915	82415915	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttcttcagctgagctgtTcaaaaccataatatcaacca	15	11	4	11	0	4	1	3	1	1	0	4	1	4	1	2	0	5	3	2	0	6	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:82415915T>G	ENST00000370728.1	+	9	1886	c.1241T>G	c.(1240-1242)tTc>tGc	p.F414C	LPHN2_ENST00000319517.6_Missense_Mutation_p.F414C|LPHN2_ENST00000359929.3_Missense_Mutation_p.F414C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.F414C|LPHN2_ENST00000394879.1_Missense_Mutation_p.F414C|LPHN2_ENST00000370713.1_Missense_Mutation_p.F414C|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.F414C|LPHN2_ENST00000370723.1_Missense_Mutation_p.F414C|LPHN2_ENST00000370717.2_Missense_Mutation_p.F414C|LPHN2_ENST00000370725.1_Missense_Mutation_p.F414C|LPHN2_ENST00000370727.1_Missense_Mutation_p.F414C|LPHN2_ENST00000370730.1_Missense_Mutation_p.F414C|LPHN2_ENST00000271029.4_Missense_Mutation_p.F414C			O95490	LPHN2_HUMAN	latrophilin 2	414					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCTGAGCTGTTCAAAACCATA	0.428													43	135					0	0	0	0	G	82415915	T	G	82415915	3	3	19	1	0	0	0	0	1	0	0	0	8980	1783	62	5	1259	5	LPHN2	1	82415915	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	6143168	82415915	166834706	7	4136											
LPHN2	23266	broad.mit.edu	37	chr1	82416120	82416120	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggataaagtggcctcagacAcaaaggggaatgatggttga	14	7	15	5	0	1	3	1	2	0	1	1	5	1	5	1	5	0	1	1	5	4	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:82416120A>T	ENST00000370728.1	+	9	2091	c.1446A>T	c.(1444-1446)acA>acT	p.T482T	LPHN2_ENST00000319517.6_Silent_p.T482T|LPHN2_ENST00000359929.3_Silent_p.T482T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Silent_p.T482T|LPHN2_ENST00000394879.1_Silent_p.T482T|LPHN2_ENST00000370713.1_Silent_p.T482T|LPHN2_ENST00000370721.1_Silent_p.T420T|LPHN2_ENST00000370715.1_Silent_p.T482T|LPHN2_ENST00000370723.1_Silent_p.T482T|LPHN2_ENST00000370717.2_Silent_p.T482T|LPHN2_ENST00000370725.1_Silent_p.T482T|LPHN2_ENST00000370727.1_Silent_p.T482T|LPHN2_ENST00000370730.1_Silent_p.T482T|LPHN2_ENST00000271029.4_Silent_p.T482T			O95490	LPHN2_HUMAN	latrophilin 2	482					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGCCTCAGACACAAAGGGGAA	0.398													11	36					0	0	0	0	T	82416120	A	T	82416120	2	4	19	1	0	0	0	0	0	0	0	1	8980	146	6	5		5	LPHN2	1	82416120	Silent	SNP	A	TCGA-BA-6872-01A-11D-1870-08	205	82416120	166834501	8	4137											
SPRR1A	6698	broad.mit.edu	37	chr1	152957935	152957935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgagccctgcccttcaacgGtcactccagcaccagcccag	8	6	8	19	1	2	1	2	1	0	0	3	1	3	1	5	1	5	1	5	1	1	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:152957935G>A	ENST00000307122.2	+	2	293	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	SPRR1A_ENST00000368762.1_Missense_Mutation_p.V77I	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	77	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCTTCAACGGTCACTCCAGC	0.617													39	87					0	0	0	0	A	152957935	G	A	152957935	3	1	19	1	0	0	0	0	1	0	0	0	15185	1261	44	4	231	4	SPRR1A	1	152957935	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	70541815	152957935	96292686	9	4138											
CD1A	909	broad.mit.edu	37	chr1	158224916	158224916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccatgtcacctggatcgcatCcttttacaaccattcctgga	9	12	6	14	1	1	0	1	0	0	0	4	2	3	2	5	2	2	1	5	2	2	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:158224916C>G	ENST00000289429.5	+	2	634	c.101C>G	c.(100-102)tCc>tGc	p.S34C		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	34					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGGATCGCATCCTTTTACAAC	0.478													23	122					0	0	0	0	G	158224916	C	G	158224916	3	3	19	1	0	0	0	0	1	0	0	0	3003	855	30	2	107	2	CD1A	1	158224916	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	5266981	158224916	91025705	10	4139											
OR6N1	128372	broad.mit.edu	37	chr1	158735835	158735835	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacataggagcagaggatcAgcaggaaggtggctaggatc	13	5	16	7	0	1	1	1	0	0	1	2	5	1	5	0	6	2	4	0	6	3	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:158735835A>C	ENST00000335094.2	-	1	657	c.638T>G	c.(637-639)cTg>cGg	p.L213R		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCAGAGGATCAGCAGGAAGGT	0.498													8	120					0	0	0	0	C	158735835	A	C	158735835	3	2	19	1	0	0	0	0	1	0	0	0	11277	188	7	5	303	5	OR6N1	1	158735835	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	510919	158735835	90514786	11	4140											
CASQ1	844	broad.mit.edu	37	chr1	160165806	160165806	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagattgtcaacttcgtggaGgagcacaggaggtggggacc	10	7	17	7	1	1	1	1	0	0	1	2	6	1	5	1	6	2	1	1	6	1	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:160165806G>A	ENST00000368079.3	+	6	1028	c.753G>A	c.(751-753)gaG>gaA	p.E251E	CASQ1_ENST00000368078.3_Silent_p.E257E	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	257						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTTCGTGGAGGAGCACAGGA	0.552													10	73					0	0	0	0	A	160165806	G	A	160165806	2	1	19	1	0	0	0	0	0	0	0	1	2705	991	35	4		4	CASQ1	1	160165806	Silent	SNP	G	TCGA-BA-6872-01A-11D-1870-08	1429971	160165806	89084815	12	4141											
RGS5	8490	broad.mit.edu	37	chr1	163122400	163122400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctttgccttctcagccatCttggcaggggacttgatctt	5	15	10	11	0	3	1	1	1	3	0	4	2	3	2	2	3	3	2	2	3	0	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:163122400C>G	ENST00000313961.5	-	4	601	c.324G>C	c.(322-324)aaG>aaC	p.K108N	RGS5_ENST00000527988.1_5'UTR|RGS5_ENST00000530507.1_Missense_Mutation_p.K108N|RGS5_ENST00000367903.3_Missense_Mutation_p.K128N	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	108	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TCTCAGCCATCTTGGCAGGGG	0.448													62	282					0	0	0	0	G	163122400	C	G	163122400	3	3	19	1	0	0	0	0	1	0	0	0	13391	912	32	2	229	2	RGS5	1	163122400	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	2956594	163122400	86128221	13	4142											
TBX19	9095	broad.mit.edu	37	chr1	168260618	168260618	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatgaaagctcccatctccTtcagcaaagtgaagctgacc	12	8	9	12	0	2	3	1	3	1	0	4	4	3	4	3	1	3	3	3	1	3	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:168260618T>C	ENST00000367821.3	+	2	475	c.424T>C	c.(424-426)Ttc>Ctc	p.F142L		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	142					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCCCATCTCCTTCAGCAAAGT	0.622													34	175					0	0	0	0	C	168260618	T	C	168260618	3	2	19	1	0	0	0	0	1	0	0	0	15748	1609	56	5	430	5	TBX19	1	168260618	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	5138218	168260618	80990003	14	4143											
NUAK2	81788	broad.mit.edu	37	chr1	205272810	205272810	+	Missense_Mutation	SNP	T	T	A																															agtccagctggtcaaaggacTcagaggacaggatgctgtcc																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:205272810T>A	ENST00000367157.3	-	7	1781	c.1655A>T	c.(1654-1656)gAg>gTg	p.E552V		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	552					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTCAAAGGACTCAGAGGACAG	0.672													7	50					0	0	0	0	A	205272810	T	A	205272810	3	1	19	1	0	0	0	0	1	0	0	0	10784	1551	54	5	235	5	NUAK2	1	205272810	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	37012192	205272810	43977811	15	4144	43	2									
NUAK2	81788	broad.mit.edu	37	chr1	205272811	205272811	+	Missense_Mutation	SNP	C	C	T																															gtccagctggtcaaaggactCagaggacaggatgctgtcct																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:205272811C>T	ENST00000367157.3	-	7	1780	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	552					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCAAAGGACTCAGAGGACAGG	0.677													8	50					0	0	0	0	T	205272811	C	T	205272811	3	4	19	1	0	0	0	0	1	0	0	0	10784	835	29	2	236	2	NUAK2	1	205272811	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	1	205272811	43977810	16	4145	43	2									
PROX1	5629	broad.mit.edu	37	chr1	214170581	214170581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaaagaacagaagcgagagGagcgccgacagctgaaacag	18	1	14	8	3	0	4	0	1	0	3	0	8	0	5	1	1	5	1	1	1	5	0			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:214170581G>A	ENST00000366958.4	+	2	1311	c.703G>A	c.(703-705)Gag>Aag	p.E235K	PROX1_ENST00000261454.4_Missense_Mutation_p.E235K|PROX1_ENST00000435016.1_Missense_Mutation_p.E235K|PROX1_ENST00000498508.2_Missense_Mutation_p.E235K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	235					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAAGCGAGAGGAGCGCCGACA	0.498													10	48					0	0	0	0	A	214170581	G	A	214170581	3	1	19	1	0	0	0	0	1	0	0	0	12640	1175	41	2	705	2	PROX1	1	214170581	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	8897770	214170581	35080040	17	4146											
UBXN2A	165324	broad.mit.edu	37	chr2	24194165	24194165	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtttgtgaaacaggatctGataatcaacctcttggtaat	12	13	10	6	0	3	2	1	2	2	0	3	3	3	3	1	3	2	2	1	3	4	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:24194165G>C	ENST00000309033.4	+	3	305	c.61G>C	c.(61-63)Gat>Cat	p.D21H	UBXN2A_ENST00000404924.1_Missense_Mutation_p.D21H|UBXN2A_ENST00000535786.1_Missense_Mutation_p.D21H|UBXN2A_ENST00000446425.2_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	21										endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						AACAGGATCTGATAATCAACC	0.313													8	102					0	0	0	0	C	24194165	G	C	24194165	3	2	19	1	0	0	0	0	1	0	0	0	17010	1290	45	2	67	2	UBXN2A	2	24194165	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08		24194165	219005208	18	4147											
FOSL2	2355	broad.mit.edu	37	chr2	28626989	28626989	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagaaattccgggtagatAtgcctggctcaggcagtgca	10	10	12	9	1	2	2	2	0	0	2	3	2	3	2	2	3	2	4	2	3	3	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:28626989A>G	ENST00000264716.4	+	2	981	c.118A>G	c.(118-120)Atg>Gtg	p.M40V	FOSL2_ENST00000379619.1_Missense_Mutation_p.M15V|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000545753.1_Start_Codon_SNP_p.M1V	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	40					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCGGGTAGATATGCCTGGCTC	0.463													28	83					0	0	0	0	G	28626989	A	G	28626989	3	3	19	1	0	0	0	0	1	0	0	0	6033	449	16	5	124	5	FOSL2	2	28626989	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	4432824	28626989	214572384	19	4148											
NRXN1	9378	broad.mit.edu	37	chr2	51149017	51149017	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgtaatacctttacttttAcctatggatttgatgaaatg	13	17	6	5	0	0	2	0	2	0	0	0	3	0	3	2	1	3	1	2	1	7	8			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:51149017A>G	ENST00000404971.1	-	6	2260	c.919_splice	c.e6-1	p.G307_splice	NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000406316.2_Splice_Site_p.G274_splice|NRXN1_ENST00000405581.1_Splice_Site_p.G274_splice|NRXN1_ENST00000405472.3_Splice_Site_p.G274_splice|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000401669.2_Splice_Site_p.G274_splice	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	274	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTTACTTTTACCTATGGATT	0.303													6	14					0	0	0	0	G	51149017	A	G	51149017	5	3	19	1	0	0	0	0	0	0	1	0	10736	406	14	5		5	NRXN1	2	51149017	Splice_Site	SNP	A	TCGA-BA-6872-01A-11D-1870-08	22522028	51149017	192050356	20	4149											
RTN4	57142	broad.mit.edu	37	chr2	55252582	55252582	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagtatattccctggctaAtttagaaaatgaatcagttt	13	15	7	6	0	2	2	2	1	0	1	3	2	3	2	1	1	0	3	1	1	7	7			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:55252582A>C	ENST00000337526.6	-	3	2896	c.2653T>G	c.(2653-2655)Tta>Gta	p.L885V	RTN4_ENST00000404909.1_Missense_Mutation_p.L679V|RTN4_ENST00000405240.1_Missense_Mutation_p.L679V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.L679V|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.L679V|RTN4_ENST00000354474.6_Missense_Mutation_p.L653V|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	885					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCCCTGGCTAATTTAGAAAAT	0.388													34	19					0	0	0	0	C	55252582	A	C	55252582	3	2	19	1	0	0	0	0	1	0	0	0	13813	98	4	5	991	5	RTN4	2	55252582	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	4103565	55252582	187946791	21	4150											
MCM6	4175	broad.mit.edu	37	chr2	136614422	136614422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgattgggtttgctgctGccaaaatggacgtccgggcg	7	10	14	10	3	0	1	0	1	0	0	1	2	1	2	2	3	3	3	2	3	2	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:136614422G>T	ENST00000264156.2	-	11	1562	c.1502C>A	c.(1501-1503)gCa>gAa	p.A501E	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	501	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GTTTGCTGCTGCCAAAATGGA	0.383													16	31					0.000566183	0.000619741	1	0	T	136614422	G	T	136614422	3	4	19	1	0	0	0	0	1	0	0	0	9460	1319	46	4	991	4	MCM6	2	136614422	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	81361840	136614422	106584951	22	4151											
EPC2	26122	broad.mit.edu	37	chr2	149501231	149501231	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaccagattatgatatggaTtcagaagatgagactttatt	15	13	8	5	0	1	5	1	2	0	4	1	7	1	6	1	1	1	0	1	1	5	6			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:149501231T>G	ENST00000258484.6	+	3	388	c.354T>G	c.(352-354)gaT>gaG	p.D118E		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	118					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATGATATGGATTCAGAAGATG	0.294													9	14					0	0	0	0	G	149501231	T	G	149501231	3	3	19	1	0	0	0	0	1	0	0	0	5199	1490	52	5	364	5	EPC2	2	149501231	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	12886809	149501231	93698142	23	4152											
KIF5C	3800	broad.mit.edu	37	chr2	149868127	149868127	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacccggcctcatctccaacGgccgtccatgccattcgagg	7	8	9	17	4	2	0	1	0	1	0	5	1	3	0	6	3	3	0	6	3	2	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:149868127G>A	ENST00000435030.1	+	25	3179	c.2811G>A	c.(2809-2811)acG>acA	p.T937T	KIF5C_ENST00000414838.2_Silent_p.T842T|KIF5C_ENST00000397413.1_Silent_p.T705T|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	937	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CATCTCCAACGGCCGTCCATG	0.498													18	45					0	0	0	0	A	149868127	G	A	149868127	2	1	19	1	0	0	0	0	0	0	0	1	8358	1103	39	1		1	KIF5C	2	149868127	Silent	SNP	G	TCGA-BA-6872-01A-11D-1870-08	366896	149868127	93331246	24	4153											
SCN1A	6323	broad.mit.edu	37	chr2	166848067	166848067	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcgttttaaagtagtagtGattggctgataggagacctt	10	16	11	4	1	0	3	0	2	0	1	1	4	0	3	1	2	0	4	1	2	5	8			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:166848067G>A	ENST00000423058.2	-	26	5735	c.5718C>T	c.(5716-5718)atC>atT	p.I1906I	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.I1906I|SCN1A_ENST00000375405.3_Silent_p.I1895I|SCN1A_ENST00000409050.1_Silent_p.I1878I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1906						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGTAGTAGTGATTGGCTGAT	0.443													11	118					0	0	0	0	A	166848067	G	A	166848067	2	1	19	1	0	0	0	0	0	0	0	1	14001	1280	45	2		2	SCN1A	2	166848067	Silent	SNP	G	TCGA-BA-6872-01A-11D-1870-08	16979940	166848067	76351306	25	4154											
XIRP2	129446	broad.mit.edu	37	chr2	168101809	168101809	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaaaacaattactgaaGaagtaatacagggtgatgta	19	8	9	5	0	0	4	0	2	0	2	0	4	0	4	1	1	3	2	1	1	10	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:168101809G>T	ENST00000409195.1	+	9	3996	c.3907G>T	c.(3907-3909)Gaa>Taa	p.E1303*	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E1081*|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E1303*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1128					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						AATTACTGAAGAAGTAATACA	0.383													17	65					1.5739e-10	1.81259e-10	1	0	T	168101809	G	T	168101809	4	4	19	1	0	0	0	0	0	1	0	0	17526	943	33	2	3937	2	XIRP2	2	168101809	Nonsense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	1253742	168101809	75097564	26	4155											
XIRP2	129446	broad.mit.edu	37	chr2	168105100	168105100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaacaatattcccaaaaaGaagcctcgaactctcagaat	17	8	5	11	1	1	2	1	0	1	2	4	3	2	2	2	0	4	1	2	0	8	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:168105100G>A	ENST00000409195.1	+	9	7287	c.7198G>A	c.(7198-7200)Gaa>Aaa	p.E2400K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2178K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2400K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2225					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						TTCCCAAAAAGAAGCCTCGAA	0.473													4	102					0	0	0	0	A	168105100	G	A	168105100	3	1	19	1	0	0	0	0	1	0	0	0	17526	943	33	2	7228	2	XIRP2	2	168105100	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	3291	168105100	75094273	27	4156											
LRP2	4036	broad.mit.edu	37	chr2	170065990	170065990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatccactgcaataccccGgactccattttctcctattc	9	12	3	17	1	1	0	0	0	1	0	5	1	3	1	6	1	2	1	6	1	4	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:170065990G>A	ENST00000263816.3	-	38	6727	c.6442C>T	c.(6442-6444)Cgg>Tgg	p.R2148W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2148					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCAATACCCCGGACTCCATTT	0.398													19	124					0	0	0	0	A	170065990	G	A	170065990	3	1	19	1	0	0	0	0	1	0	0	0	9020	1115	39	1	7693	1	LRP2	2	170065990	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	1960890	170065990	73133383	28	4157											
SCRN3	79634	broad.mit.edu	37	chr2	175292478	175292479	+	Frame_Shift_Del	DEL	TG	TG	-																															gttggacaacatgaggaaacTggagaaagaactattcagag																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:175292478_175292479delTG	ENST00000272732.6	+	8	1212_1213	c.1130_1131delTG	c.(1129-1131)cfs	p.L377fs	SCRN3_ENST00000409673.3_Frame_Shift_Del_p.L370fs|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	377					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			ATGAGGAAACTGGAGAAAGAAC	0.297													11	111	---	---	---	---					-	175292479	TG	-	175292478	7	5	19	1	0	1	0	1	0	0	0	0	14027	1580	55	0	1156	0	SCRN3	2	175292478	Frame_Shift_Del	DEL	TG	TCGA-BA-6872-01A-11D-1870-08	5226488	175292478	67906895	29	4158											
KIAA1715	80856	broad.mit.edu	37	chr2	176794907	176794907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctctgtattatcatcaaGaacatcgtgttctaaagatt	12	15	6	8	1	4	2	2	0	2	2	5	2	4	2	0	0	2	3	0	0	6	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:176794907G>A	ENST00000272748.4	-	13	1322	c.1075C>T	c.(1075-1077)Ctt>Ttt	p.L359F	KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.L390F	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	359						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTATCATCAAGAACATCGTGT	0.353													4	167					0	0	0	0	A	176794907	G	A	176794907	3	1	19	1	0	0	0	0	1	0	0	0	8305	942	33	2	215	2	KIAA1715	2	176794907	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	1502429	176794907	66404466	30	4159											
OSBPL6	114880	broad.mit.edu	37	chr2	179213991	179213991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcaccagttcgcttgcattCctccaaccccaacctttgtg	7	12	6	16	1	1	0	1	0	0	0	4	0	3	0	6	0	3	3	6	0	2	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:179213991C>T	ENST00000190611.4	+	12	1404	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	OSBPL6_ENST00000357080.4_Missense_Mutation_p.S312F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.S347F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S343F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S343F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S368F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S312F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	343					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CGCTTGCATTCCTCCAACCCC	0.438													17	271					0	0	0	0	T	179213991	C	T	179213991	3	4	19	1	0	0	0	0	1	0	0	0	11352	855	30	2	1188	2	OSBPL6	2	179213991	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	2419084	179213991	63985382	31	4160											
TTN	7273	broad.mit.edu	37	chr2	179403855	179403855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagtggatgtctctttgCgttcgatgtagtagcctgtg	5	16	13	7	2	2	0	1	0	1	0	4	2	2	1	1	1	2	3	1	1	2	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:179403855C>T	ENST00000589042.1	-	353	99031	c.98807G>A	c.(98806-98808)cGc>cAc	p.R32936H	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24063H|TTN_ENST00000460472.2_Missense_Mutation_p.R23871H|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23996H|TTN_ENST00000591111.1_Missense_Mutation_p.R31295H|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R30368H|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31295							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)			TGTCTCTTTGCGTTCGATGTA	0.498													16	114					0	0	0	0	T	179403855	C	T	179403855	3	4	19	1	0	0	0	0	1	0	0	0	16831	768	27	1	9212	1	TTN	2	179403855	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	189864	179403855	63795518	32	4161											
TTN	7273	broad.mit.edu	37	chr2	179544334	179544334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtggtgtaccttttgccGgtggagcttccttcttcttg	3	17	12	9	1	2	0	0	0	2	0	3	1	3	1	3	4	3	2	3	4	1	7			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:179544334G>A	ENST00000589042.1	-	141	33880	c.33656C>T	c.(33655-33657)cCg>cTg	p.P11219L	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P10902L|TTN_ENST00000342992.6_Missense_Mutation_p.P9975L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10902	Glu-rich.|Pro-rich.						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)			ACCTTTTGCCGGTGGAGCTTC	0.418													8	31					0	0	0	0	A	179544334	G	A	179544334	3	1	19	1	0	0	0	0	1	0	0	0	16831	1116	39	1	70761	1	TTN	2	179544334	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	140479	179544334	63655039	33	4162											
NCKAP1	10787	broad.mit.edu	37	chr2	183850902	183850902	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaataaaactactcacgcaTgtgacacggctgcctccttg	13	9	7	12	2	1	1	1	1	0	0	2	1	2	1	2	1	3	2	2	1	5	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:183850902T>C	ENST00000360982.2	-	11	1777	c.1019A>G	c.(1018-1020)cAt>cGt	p.H340R	NCKAP1_ENST00000361354.3_Missense_Mutation_p.H334R	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	334					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TACTCACGCATGTGACACGGC	0.318													6	12					0	0	0	0	C	183850902	T	C	183850902	3	2	19	1	0	0	0	0	1	0	0	0	10291	1464	51	5	2473	5	NCKAP1	2	183850902	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	4306568	183850902	59348471	34	4163											
ERBB4	2066	broad.mit.edu	37	chr2	212488717	212488717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcagtttctttcaaaataCgaagttgagcttgattgggt	10	15	10	6	1	3	2	2	2	1	0	3	3	3	2	0	1	2	4	0	1	4	6			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:212488717C>A	ENST00000342788.4	-	18	2442	c.2132G>T	c.(2131-2133)cGt>cTt	p.R711L	ERBB4_ENST00000402597.1_Missense_Mutation_p.R701L|ERBB4_ENST00000436443.1_Missense_Mutation_p.R711L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	711					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTTCAAAATACGAAGTTGAGC	0.418										TSP Lung(8;0.080)			4	57					0.00909568	0.00944551	1	0	A	212488717	C	A	212488717	3	1	19	1	0	0	0	0	1	0	0	0	5247	536	19	3	1838	3	ERBB4	2	212488717	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	28637815	212488717	30710656	35	4164											
ABCA12	26154	broad.mit.edu	37	chr2	215854110	215854110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaatgaaagagtcagctaGgattagacagcacagccagc	17	6	10	8	0	1	3	1	1	0	2	1	4	1	4	1	1	4	2	1	1	5	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:215854110G>T	ENST00000272895.7	-	26	3991	c.3772C>A	c.(3772-3774)Cta>Ata	p.L1258I	ABCA12_ENST00000389661.4_Missense_Mutation_p.L940I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1258					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTCAGCTAGGATTAGACAG	0.423													9	68					1.12685e-05	1.25608e-05	1	0	T	215854110	G	T	215854110	3	4	19	1	0	0	0	0	1	0	0	0	30	991	35	4	4127	4	ABCA12	2	215854110	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	3365393	215854110	27345263	36	4165											
TRIP12	9320	broad.mit.edu	37	chr2	230693917	230693917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttacttactagctccaCttccaattgttctatggaaa	11	17	4	9	0	1	0	0	0	1	0	3	1	3	1	2	1	3	2	2	1	6	9			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:230693917C>T	ENST00000283943.5	-	7	1476	c.1298G>A	c.(1297-1299)aGt>aAt	p.S433N	TRIP12_ENST00000389044.4_Missense_Mutation_p.S481N|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.S136N	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	433					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ACTAGCTCCACTTCCAATTGT	0.393													7	36					0	0	0	0	T	230693917	C	T	230693917	3	4	19	1	0	0	0	0	1	0	0	0	16651	565	20	4	4820	4	TRIP12	2	230693917	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	14839807	230693917	12505456	37	4166											
TRANK1	9881	broad.mit.edu	37	chr3	36873988	36873988	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcagactctagagctttGagttccctgttgtagttgtc	6	18	9	8	0	2	3	1	1	1	2	4	3	3	3	1	0	1	5	1	0	2	8			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:36873988G>C	ENST00000301807.6	-	21	7201	c.5304C>G	c.(5302-5304)ctC>ctG	p.L1768L	TRANK1_ENST00000428977.2_Silent_p.L1768L|TRANK1_ENST00000429976.2_Silent_p.L2318L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2318					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTAGAGCTTTGAGTTCCCTGT	0.512													7	75					0	0	0	0	C	36873988	G	C	36873988	2	2	19	1	0	0	0	0	0	0	0	1	16549	1277	45	2		2	TRANK1	3	36873988	Silent	SNP	G	TCGA-BA-6872-01A-11D-1870-08		36873988	161148442	38	4167											
ULK4	54986	broad.mit.edu	37	chr3	41960008	41960008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcagttaattctgaaataCtttctgagaagaatggaggt	13	15	9	4	0	3	3	1	2	2	2	3	5	3	4	0	2	1	1	0	2	5	5	rs55840267		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:41960008C>A	ENST00000301831.4	-	7	1130	c.668G>T	c.(667-669)aGt>aTt	p.S223I	ULK4_ENST00000420927.1_Missense_Mutation_p.S223I	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	223	Protein kinase.		S -> N (in dbSNP:rs55840267).				ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TTCTGAAATACTTTCTGAGAA	0.279													3	64					0.00909568	0.00944551	1	0	A	41960008	C	A	41960008	3	1	19	1	0	0	0	0	1	0	0	0	17074	565	20	4	3283	4	ULK4	3	41960008	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	5086020	41960008	156062422	39	4168											
NKTR	4820	broad.mit.edu	37	chr3	42680530	42680530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaaaacattcagcacgttGaagaaagtgttcccaatgga	16	9	8	8	1	1	2	1	1	0	1	2	3	2	3	1	1	3	3	1	1	6	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:42680530G>A	ENST00000232978.8	+	13	3522	c.3334G>A	c.(3334-3336)Gaa>Aaa	p.E1112K	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1112					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCAGCACGTTGAAGAAAGTGT	0.408													10	37					0	0	0	0	A	42680530	G	A	42680530	3	1	19	1	0	0	0	0	1	0	0	0	10518	1291	45	2	3380	2	NKTR	3	42680530	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	720522	42680530	155341900	40	4169											
PDE12	201626	broad.mit.edu	37	chr3	57542704	57542704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccttttccgctggtataagGaagccaagcccggagcggcg	8	7	13	13	4	0	0	0	0	0	0	1	2	1	2	4	4	3	2	4	4	4	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:57542704G>A	ENST00000311180.8	+	1	701	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	PDE12_ENST00000487257.1_Missense_Mutation_p.E200K	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	200							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CTGGTATAAGGAAGCCAAGCC	0.607													24	51					0	0	0	0	A	57542704	G	A	57542704	3	1	19	1	0	0	0	0	1	0	0	0	11703	1175	41	2	600	2	PDE12	3	57542704	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	14862174	57542704	140479726	41	4170											
KALRN	8997	broad.mit.edu	37	chr3	124207131	124207131	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgtcccaaagaaagcCaatgatgccatgcatgtcag	13	8	9	11	0	2	2	2	1	0	1	3	2	3	2	3	0	3	1	3	0	3	0			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:124207131C>T	ENST00000360013.3	+	29	4486	c.4359C>T	c.(4357-4359)gcC>gcT	p.A1453A	KALRN_ENST00000240874.3_Silent_p.A1453A|KALRN_ENST00000460856.1_Silent_p.A1444A	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1453	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAAGAAAGCCAATGATGCCA	0.532													4	91					0	0	0	0	T	124207131	C	T	124207131	2	4	19	1	0	0	0	0	0	0	0	1	8028	581	21	4		4	KALRN	3	124207131	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08	66664427	124207131	73815299	42	4171											
ACAD9	28976	broad.mit.edu	37	chr3	128625055	128625055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggactatccgtacgagcGcatactgcgtgacacccgca	11	6	11	13	5	0	1	0	1	0	0	1	3	1	2	2	1	4	3	2	1	4	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:128625055G>A	ENST00000308982.7	+	12	1322	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	414						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCGTACGAGCGCATACTGCGT	0.632													4	115					0	0	0	0	A	128625055	G	A	128625055	3	1	19	1	0	0	0	0	1	0	0	0	111	1087	38	1	1287	1	ACAD9	3	128625055	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	4417924	128625055	69397375	43	4172											
ZBTB38	253461	broad.mit.edu	37	chr3	141161426	141161426	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatatcttttggagccatAcaatctgtatttccagccac	13	13	5	10	0	2	0	0	0	2	0	3	1	3	1	3	1	3	1	3	1	6	6			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:141161426A>G	ENST00000514251.1	+	4	475	c.196A>G	c.(196-198)Aca>Gca	p.T66A	ZBTB38_ENST00000321464.5_Missense_Mutation_p.T67A|ZBTB38_ENST00000441582.2_Missense_Mutation_p.T66A			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	66	BTB.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TTGGAGCCATACAATCTGTAT	0.388													16	81					0	0	0	0	G	141161426	A	G	141161426	3	3	19	1	0	0	0	0	1	0	0	0	17634	391	14	5	198	5	ZBTB38	3	141161426	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	12536371	141161426	56861004	44	4173											
DVL3	1857	broad.mit.edu	37	chr3	183885832	183885832	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgagcagtgctactacAtcttcggtgacctctgcggc	6	11	10	14	3	3	1	0	1	3	0	5	2	3	1	2	2	5	2	2	2	2	3	rs61758454		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:183885832A>G	ENST00000313143.3	+	13	1725	c.1477A>G	c.(1477-1479)Atc>Gtc	p.I493V	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.I476V	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	493	DEP.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GTGCTACTACATCTTCGGTGA	0.592													16	102					0	0	0	0	G	183885832	A	G	183885832	3	3	19	1	0	0	0	0	1	0	0	0	4873	217	8	5	1527	5	DVL3	3	183885832	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	42724406	183885832	14136598	45	4174											
CC2D2A	57545	broad.mit.edu	37	chr4	15589466	15589468	+	In_Frame_Del	DEL	GAA	GAA	-																															ttgatctcctggcaggggatGaagaagaacatgcagtacta																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:15589466_15589468delGAA	ENST00000424120.1	+	32	4347_4349	c.4093_4095delGAA	c.(4093-4095)del	p.E1367del	CC2D2A_ENST00000389652.5_In_Frame_Del_p.E1259del|CC2D2A_ENST00000413206.1_In_Frame_Del_p.E1367del|CC2D2A_ENST00000503292.1_In_Frame_Del_p.E1367del			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1367					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GGCAGGGGATGAAGAAGAACATG	0.399													14	49	---	---	---	---					-	15589468	GAA	-	15589466	7	5	19	1	0	1	0	1	0	0	0	0	2753	1291	45	0	4418	0	CC2D2A	4	15589466	In_Frame_Del	DEL	GAA	TCGA-BA-6872-01A-11D-1870-08		15589466	175564810	46	4175											
GC	2638	broad.mit.edu	37	chr4	72635073	72635073	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgaagtcctcctttcccaGatgggagaattccttgcaga	9	12	10	10	0	0	4	0	1	0	3	4	5	4	4	4	1	1	1	4	1	2	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:72635073G>A	ENST00000273951.8	-	2	446	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.L35L|GC_ENST00000504199.1_Silent_p.L54L	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	35	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TCCTTTCCCAGATGGGAGAAT	0.408													3	27					0	0	0	0	A	72635073	G	A	72635073	2	1	19	1	0	0	0	0	0	0	0	1	6331	933	33	2		2	GC	4	72635073	Silent	SNP	G	TCGA-BA-6872-01A-11D-1870-08	57045607	72635073	118519203	47	4176											
ALB	213	broad.mit.edu	37	chr4	74274375	74274375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacctatggtgaaatggCtgactgctgtgcaaaacaag	14	9	11	7	0	0	3	0	3	0	0	0	3	0	3	1	2	4	3	1	2	6	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:74274375C>T	ENST00000295897.4	+	4	424	c.335C>T	c.(334-336)gCt>gTt	p.A112V	ALB_ENST00000509063.1_Missense_Mutation_p.A112V|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000503124.1_Intron	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	112	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GGTGAAATGGCTGACTGCTGT	0.443													6	27					0	0	0	0	T	74274375	C	T	74274375	3	4	19	1	0	0	0	0	1	0	0	0	486	797	28	4	349	4	ALB	4	74274375	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	1639302	74274375	116879901	48	4177											
HERC3	8916	broad.mit.edu	37	chr4	89627912	89627912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctccccagtgttcctgaCaggcagcgatcggattccca	7	10	10	14	2	1	1	0	1	1	0	5	3	3	2	4	2	1	3	4	2	0	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:89627912C>A	ENST00000402738.1	+	26	3193	c.2954C>A	c.(2953-2955)aCa>aAa	p.T985K	HERC3_ENST00000264345.3_Missense_Mutation_p.T985K|HERC3_ENST00000543130.1_Missense_Mutation_p.T429K	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	985	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GTGTTCCTGACAGGCAGCGAT	0.552											OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	15					0.00024832	0.00027304	1	0	A	89627912	C	A	89627912	3	1	19	1	0	0	0	0	1	0	0	0	7109	478	17	4	3048	4	HERC3	4	89627912	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	15353537	89627912	101526364	49	4178											
INTS12	57117	broad.mit.edu	37	chr4	106604428	106604428	+	Frame_Shift_Del	DEL	G	G	-																															ttaagccactagttactgacGaggaaacgctggcactagaa																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:106604428delG	ENST00000451321.2	-	7	1330	c.851delC	c.(850-852)tgfs	p.S285fs	INTS12_ENST00000340139.5_Frame_Shift_Del_p.S285fs|INTS12_ENST00000394735.1_Frame_Shift_Del_p.S285fs	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	285	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		AGTTACTGACGAGGAAACGCT	0.378													8	30	---	---	---	---					-	106604428	G	-	106604428	7	5	19	1	0	1	0	1	0	0	0	0	7830	1059	37	0	541	0	INTS12	4	106604428	Frame_Shift_Del	DEL	G	TCGA-BA-6872-01A-11D-1870-08	16976516	106604428	84549848	50	4179											
CCDC110	256309	broad.mit.edu	37	chr4	186380147	186380147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgcttctctaaagaaaGttgtatatttttttcctcta	9	21	5	6	0	2	1	0	0	2	1	4	1	3	1	1	0	1	4	1	0	6	11			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:186380147G>C	ENST00000307588.3	-	6	1669	c.1594C>G	c.(1594-1596)Ctt>Gtt	p.L532V	CCDC110_ENST00000510617.1_Missense_Mutation_p.L532V|CCDC110_ENST00000393540.3_Missense_Mutation_p.L495V	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	532						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TCTAAAGAAAGTTGTATATTT	0.269													13	31					0	0	0	0	C	186380147	G	C	186380147	3	2	19	1	0	0	0	0	1	0	0	0	2772	1029	36	4	915	4	CCDC110	4	186380147	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	79775719	186380147	4774129	51	4180											
DNAH5	1767	broad.mit.edu	37	chr5	13901525	13901525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctatggaagagctggcgggCccacaaaatctttccagcga	11	7	11	12	2	1	1	0	0	1	1	2	3	2	2	3	3	2	1	3	3	4	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:13901525C>T	ENST00000265104.4	-	14	1992	c.1888G>A	c.(1888-1890)Gcc>Acc	p.A630T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	630	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTGGCGGGCCCACAAAATC	0.502									Kartagener syndrome				7	30					0	0	0	0	T	13901525	C	T	13901525	3	4	19	1	0	0	0	0	1	0	0	0	4641	739	26	4	12250	4	DNAH5	5	13901525	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08		13901525	167013735	52	4181											
SEMA6A	57556	broad.mit.edu	37	chr5	115782551	115782551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcccctgccaaagctctGgtttctggagaggtgagagg	7	10	14	10	0	3	2	0	1	3	2	4	4	3	2	3	4	2	2	3	4	1	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:115782551G>T	ENST00000343348.6	-	19	3638	c.2851C>A	c.(2851-2853)Cag>Aag	p.Q951K	SEMA6A_ENST00000282394.6_Missense_Mutation_p.Q428K|SEMA6A_ENST00000510263.1_Missense_Mutation_p.Q951K|SEMA6A_ENST00000503865.1_Missense_Mutation_p.Q330K|SEMA6A_ENST00000257414.8_Missense_Mutation_p.Q968K|SEMA6A_ENST00000513137.1_Missense_Mutation_p.Q378K	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	951					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CCAAAGCTCTGGTTTCTGGAG	0.607													10	38					1.76689e-08	2.00633e-08	1	0	T	115782551	G	T	115782551	3	4	19	1	0	0	0	0	1	0	0	0	14126	1357	47	4	245	4	SEMA6A	5	115782551	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	101881026	115782551	65132709	53	4182											
FTMT	94033	broad.mit.edu	37	chr5	121188162	121188162	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgctctactcttggaaaaGaacgtgaaccagtcgttgct	10	12	10	9	2	2	2	0	1	2	1	3	3	2	3	1	1	5	3	1	1	5	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:121188162G>C	ENST00000321339.1	+	1	513	c.504G>C	c.(502-504)aaG>aaC	p.K168N		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	168	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TCTTGGAAAAGAACGTGAACC	0.547													17	91					0	0	0	0	C	121188162	G	C	121188162	3	2	19	1	0	0	0	0	1	0	0	0	6133	933	33	2	506	2	FTMT	5	121188162	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	5405611	121188162	59727098	54	4183											
HSPA4	3308	broad.mit.edu	37	chr5	132440096	132440096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtgccttcggattcaGacaagaagcttcctgaaatg	11	10	10	10	1	1	3	1	1	0	2	3	4	2	4	2	1	3	2	2	1	3	3	rs144576995		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:132440096G>T	ENST00000304858.2	+	19	2780	c.2491G>T	c.(2491-2493)Gac>Tac	p.D831Y		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	831					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCGGATTCAGACAAGAAGCT	0.423													14	64					6.72482e-11	7.78158e-11	1	0	T	132440096	G	T	132440096	3	4	19	1	0	0	0	0	1	0	0	0	7464	942	33	2	2565	2	HSPA4	5	132440096	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	11251934	132440096	48475164	55	4184											
CD14	929	broad.mit.edu	37	chr5	140012362	140012362	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcatcgacgcgctttagAaacggctctaggttgagacc	9	9	11	12	5	1	2	0	1	1	2	3	4	2	2	2	2	1	4	2	2	3	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:140012362A>T	ENST00000302014.6	-	2	836	c.207T>A	c.(205-207)ttT>ttA	p.F69L	CD14_ENST00000401743.2_Missense_Mutation_p.F69L	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	69					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCTTTAGAAACGGCTCTA	0.632													4	38					0	0	0	0	T	140012362	A	T	140012362	3	4	19	1	0	0	0	0	1	0	0	0	2993	243	9	5	924	5	CD14	5	140012362	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	7572266	140012362	40902898	56	4185											
PCDHA3	56145	broad.mit.edu	37	chr5	140181796	140181796	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gatcactgcacagttctactCgaaattgtggacatcaatga	13	11	8	9	1	3	1	2	1	1	0	4	4	3	2	0	1	2	2	0	1	3	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:140181796C>G	ENST00000522353.2	+	1	1014	c.1014C>G	c.(1012-1014)ctC>ctG	p.L338L	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.L338L|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTACTCGAAATTGTGG	0.398													3	71					0	0	0	0	G	140181796	C	G	140181796	2	3	19	1	0	0	0	0	0	0	0	1	11596	871	31	3		3	PCDHA3	5	140181796	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08	169434	140181796	40733464	57	4186											
RNF14	9604	broad.mit.edu	37	chr5	141363007	141363007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggctaataaaagacttttgGatcaaaggtatggtaagaga	17	10	11	3	0	1	2	1	0	0	2	1	4	1	3	0	4	0	3	0	4	6	6			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:141363007G>T	ENST00000394520.2	+	7	1435	c.1126G>T	c.(1126-1128)Gat>Tat	p.D376Y	RNF14_ENST00000347642.3_Missense_Mutation_p.D376Y|RNF14_ENST00000540015.1_Missense_Mutation_p.D73Y|RNF14_ENST00000394515.3_Missense_Mutation_p.D200Y|RNF14_ENST00000394514.2_Missense_Mutation_p.D250Y|RNF14_ENST00000356143.1_Missense_Mutation_p.D376Y|RNF14_ENST00000394519.1_Missense_Mutation_p.D376Y	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	376	Interaction with androgen receptor.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AAGACTTTTGGATCAAAGGTA	0.378													3	22					0.004672	0.00493607	1	0	T	141363007	G	T	141363007	3	4	19	1	0	0	0	0	1	0	0	0	13528	1174	41	2	1144	2	RNF14	5	141363007	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	1181211	141363007	39552253	58	4187											
PPARGC1B	133522	broad.mit.edu	37	chr5	149215963	149215963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcactcaaggccaccccaGgggctgcccacaagctgcca	9	5	9	18	0	2	0	2	0	1	0	3	0	2	0	5	3	3	2	5	3	2	0			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:149215963G>A	ENST00000309241.5	+	8	1977	c.1945G>A	c.(1945-1947)Ggg>Agg	p.G649R	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.G610R|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.G585R|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.G649R	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	649					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCCACCCCAGGGGCTGCCCA	0.602													16	78					0	0	0	0	A	149215963	G	A	149215963	3	1	19	1	0	0	0	0	1	0	0	0	12372	1000	35	4	1982	4	PPARGC1B	5	149215963	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	7852956	149215963	31699297	59	4188											
C5orf54	63920	broad.mit.edu	37	chr5	159821116	159821116	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagatctccaatggaaaaaTatccatggaagaagttgctc	16	10	8	7	0	1	2	0	0	1	2	4	4	2	4	2	2	1	2	2	2	7	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:159821116T>C	ENST00000408953.3	-	2	1889	c.1382A>G	c.(1381-1383)tAt>tGt	p.Y461C	C5orf54_ENST00000523213.1_Missense_Mutation_p.Y461C	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	461										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						aatggaaaaatatccatggaa	0.303													8	62					0	0	0	0	C	159821116	T	C	159821116	3	2	19	1	0	0	0	0	1	0	0	0	2331	1406	49	5	406	5	C5orf54	5	159821116	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	10605153	159821116	21094144	60	4189											
CCNG1	900	broad.mit.edu	37	chr5	162866483	162866483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgacacagagacattttCtctagctgtgaatttactgg	10	15	8	8	0	1	3	0	2	1	1	2	4	1	3	0	1	2	1	0	1	3	6			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:162866483C>T	ENST00000340828.2	+	2	445	c.221C>T	c.(220-222)tCt>tTt	p.S74F	AC112205.1_ENST00000599797.1_Silent_p.E21E|CCNG1_ENST00000511683.2_Intron|CCNG1_ENST00000512163.1_Intron|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000393929.1_Missense_Mutation_p.S74F	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	74					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		GAGACATTTTCTCTAGCTGTG	0.373													24	24					0	0	0	0	T	162866483	C	T	162866483	3	4	19	1	0	0	0	0	1	0	0	0	2952	913	32	2	223	2	CCNG1	5	162866483	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	3045367	162866483	18048777	61	4190											
FOXI1	2299	broad.mit.edu	37	chr5	169535531	169535531	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcagctatggaggatcTgtgctcagccaattcagccc	9	10	10	12	0	4	0	3	0	1	0	4	2	4	2	2	2	5	3	2	2	2	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:169535531T>A	ENST00000449804.2	+	2	813	c.768T>A	c.(766-768)tcT>tcA	p.S256S	FOXI1_ENST00000306268.6_Silent_p.S351S	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	351					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGAGGATCTGTGCTCAGCC	0.582									Pendred syndrome				10	62					0	0	0	0	A	169535531	T	A	169535531	2	1	19	1	0	0	0	0	0	0	0	1	6056	1567	55	5		5	FOXI1	5	169535531	Silent	SNP	T	TCGA-BA-6872-01A-11D-1870-08	6669048	169535531	11379729	62	4191											
TRIM10	10107	broad.mit.edu	37	chr6	30122152	30122152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtggcccggtcaaaaCgttgggggttgtctggtgag	7	9	17	8	2	2	1	1	1	1	0	2	1	2	1	1	6	1	2	1	6	2	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:30122152C>T	ENST00000449742.2	-	7	1115	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H	TRIM10_ENST00000376704.3_Missense_Mutation_p.R347H	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	347	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CCGGTCAAAACGTTGGGGGTT	0.602													15	48					0	0	0	0	T	30122152	C	T	30122152	3	4	19	1	0	0	0	0	1	0	0	0	16581	536	19	1	497	1	TRIM10	6	30122152	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08		30122152	140992915	63	4192											
MTCH1	23787	broad.mit.edu	37	chr6	36936732	36936732	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcggaaaagcaggctggAgcctcggaagagctggccct	9	4	16	12	3	0	1	0	0	0	1	1	4	0	4	3	6	3	3	3	6	3	0			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:36936732A>G	ENST00000373627.5	-	12	1241	c.1117T>C	c.(1117-1119)Tcc>Ccc	p.S373P	MTCH1_ENST00000471737.1_5'UTR|MTCH1_ENST00000373616.5_Missense_Mutation_p.S356P	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	373					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGCAGGCTGGAGCCTCGGAAG	0.562													3	63					0	0	0	0	G	36936732	A	G	36936732	3	3	19	1	0	0	0	0	1	0	0	0	9983	304	11	5	56	5	MTCH1	6	36936732	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	6814580	36936732	134178335	64	4193											
DST	667	broad.mit.edu	37	chr6	56417926	56417926	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgttgttcagtaattctaCcataccaaagtgttggtcca	10	15	8	8	0	2	0	1	0	1	0	3	0	3	0	3	1	2	4	3	1	4	7			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:56417926C>A	ENST00000370754.5	-	61	15570	c.15571G>T	c.(15571-15573)Gta>Tta	p.V5191L	DST_ENST00000370769.4_Missense_Mutation_p.V5013L|DST_ENST00000244364.6_Missense_Mutation_p.V2599L|DST_ENST00000361203.3_Missense_Mutation_p.V5011L|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.V2925L|DST_ENST00000421834.2_Missense_Mutation_p.V2925L|DST_ENST00000446842.2_Missense_Mutation_p.V4687L			Q03001	DYST_HUMAN	dystonin	5011					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTAATTCTACCATACCAAAG	0.403													86	204					4.25105e-50	5.06375e-50	1	0	A	56417926	C	A	56417926	3	1	19	1	0	0	0	0	1	0	0	0	4819	507	18	4	7892	4	DST	6	56417926	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	19481194	56417926	114697141	65	4194											
TBX18	9096	broad.mit.edu	37	chr6	85472390	85472390	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccgggccagggagcgCgccggagaccccttggggga	5	2	20	14	5	0	1	0	0	0	1	0	4	0	3	6	6	1	0	6	6	0	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:85472390C>G	ENST00000369663.5	-	2	706	c.369G>C	c.(367-369)gcG>gcC	p.A123A	TBX18_ENST00000606784.1_5'UTR|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	123					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCAGGGAGCGCGCCGGAGACC	0.697													7	35					0	0	0	0	G	85472390	C	G	85472390	2	3	19	1	0	0	0	0	0	0	0	1	15747	755	27	3		3	TBX18	6	85472390	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08	29054464	85472390	85642677	66	4195											
RRAGD	58528	broad.mit.edu	37	chr6	90097057	90097057	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcctgttccccggaagAtcatctcatagtcaaatgta	10	12	8	11	1	3	1	3	0	1	1	6	2	5	2	3	1	1	3	3	1	4	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:90097057A>T	ENST00000369415.4	-	2	677	c.401T>A	c.(400-402)aTc>aAc	p.I134N	RRAGD_ENST00000359203.2_Intron|RRAGD_ENST00000492783.1_5'UTR	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	134					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TCCCCGGAAGATCATCTCATA	0.498													16	124					0	0	0	0	T	90097057	A	T	90097057	3	4	19	1	0	0	0	0	1	0	0	0	13760	333	12	5	825	5	RRAGD	6	90097057	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	4624667	90097057	81018010	67	4196											
GRM1	2911	broad.mit.edu	37	chr6	146351225	146351225	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattcagccacaagcatcgAcctgagtgacaaaactttgt	13	11	7	10	1	1	2	1	2	0	0	2	3	1	2	2	0	3	1	2	0	4	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:146351225A>T	ENST00000392299.2	+	2	1042	c.572A>T	c.(571-573)gAc>gTc	p.D191V	GRM1_ENST00000361719.2_Missense_Mutation_p.D191V|GRM1_ENST00000282753.1_Missense_Mutation_p.D191V|GRM1_ENST00000507907.1_Missense_Mutation_p.D191V|GRM1_ENST00000355289.4_Missense_Mutation_p.D191V|GRM1_ENST00000492807.2_Missense_Mutation_p.D191V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	191					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACAAGCATCGACCTGAGTGAC	0.507													49	65					0	0	0	0	T	146351225	A	T	146351225	3	4	19	1	0	0	0	0	1	0	0	0	6846	275	10	5	574	5	GRM1	6	146351225	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	56254168	146351225	24763842	68	4197											
PLEKHG1	57480	broad.mit.edu	37	chr6	151054974	151054974	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaggaggtaggggccataAaactggagctgattcctgcc	12	8	13	8	0	0	1	0	1	0	0	1	3	1	3	3	5	3	2	3	5	4	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:151054974A>C	ENST00000367328.1	+	3	469	c.157A>C	c.(157-159)Aaa>Caa	p.K53Q	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.K53Q	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	53					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGGGGCCATAAAACTGGAGCT	0.572													18	55					0	0	0	0	C	151054974	A	C	151054974	3	2	19	1	0	0	0	0	1	0	0	0	12140	15	1	5	159	5	PLEKHG1	6	151054974	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	4703749	151054974	20060093	69	4198											
RMND1	55005	broad.mit.edu	37	chr6	151766876	151766876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacattagatgaccgattCttcggcactgatgtgctttt	9	16	8	8	2	1	3	0	2	1	1	2	4	1	3	1	1	2	2	1	1	2	6			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:151766876C>A	ENST00000367303.4	-	2	193	c.71G>T	c.(70-72)aGa>aTa	p.R24I	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	24										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		ATGACCGATTCTTCGGCACTG	0.403													14	34					4.36969e-10	4.98514e-10	1	0	A	151766876	C	A	151766876	3	1	19	1	0	0	0	0	1	0	0	0	13481	913	32	2	1322	2	RMND1	6	151766876	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	711902	151766876	19348191	70	4199											
NUDT1	4521	broad.mit.edu	37	chr7	2290629	2290629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactccgcgaggtggacaCggtctagcgggagcccaggg	8	4	16	13	4	1	0	0	0	1	0	2	3	2	2	2	5	2	0	2	5	1	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:2290629C>T	ENST00000397049.1	+	5	635	c.533C>T	c.(532-534)aCg>aTg	p.T178M	NUDT1_ENST00000343985.4_Missense_Mutation_p.T178M|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000356714.1_Missense_Mutation_p.T155M|NUDT1_ENST00000339737.2_Missense_Mutation_p.T155M|NUDT1_ENST00000397046.1_Missense_Mutation_p.T155M|NUDT1_ENST00000397048.1_Missense_Mutation_p.T178M	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	196					DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	p.T178M(1)		large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GAGGTGGACACGGTCTAGCGG	0.602								Modulation of nucleotide pools					18	140					0	0	0	0	T	2290629	C	T	2290629	3	4	19	1	0	0	0	0	1	0	0	0	10796	536	19	1	547	1	NUDT1	7	2290629	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08		2290629	156848034	71	4200											
C7orf10	79783	broad.mit.edu	37	chr7	40535977	40535977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatgaagaatgtatttgcaGaacctcaggtttgtttttga	12	15	9	5	0	1	4	1	2	0	2	1	4	1	4	1	1	2	4	1	1	4	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:40535977G>A	ENST00000309930.5	+	12	1126	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	C7orf10_ENST00000401647.2_Missense_Mutation_p.E320K|C7orf10_ENST00000335693.4_Missense_Mutation_p.E368K	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	368							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TGTATTTGCAGAACCTCAGGT	0.403													4	27					0	0	0	0	A	40535977	G	A	40535977	3	1	19	1	0	0	0	0	1	0	0	0	2399	943	33	2	1037	2	C7orf10	7	40535977	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	38245348	40535977	118602686	72	4201											
EGFR	1956	broad.mit.edu	37	chr7	55218998	55218998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatttcaggccaaaagtgtGatccaagctgtcccaatggg	12	9	10	10	0	1	1	1	1	0	0	3	1	3	1	3	2	1	1	3	2	4	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:55218998G>A	ENST00000275493.2	+	5	748	c.571G>A	c.(571-573)Gat>Aat	p.D191N	EGFR_ENST00000342916.3_Missense_Mutation_p.D191N|EGFR_ENST00000344576.2_Missense_Mutation_p.D191N|EGFR_ENST00000455089.1_Missense_Mutation_p.D146N|EGFR_ENST00000420316.2_Missense_Mutation_p.D191N|EGFR_ENST00000442591.1_Missense_Mutation_p.D191N|EGFR_ENST00000454757.2_Missense_Mutation_p.D138N	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	191					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCAAAAGTGTGATCCAAGCTG	0.498		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			59	724					0	0	0	0	A	55218998	G	A	55218998	3	1	19	1	0	0	0	0	1	0	0	0	5003	1290	45	2	589	2	EGFR	7	55218998	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	14683021	55218998	103919665	73	4202											
AASS	10157	broad.mit.edu	37	chr7	121738533	121738533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatcctgttttgccaccaaGaagcccagcttctcttcttg	8	13	7	13	0	2	2	0	0	2	2	4	2	3	2	4	0	3	2	4	0	2	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:121738533G>A	ENST00000393376.1	-	14	1721	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	AASS_ENST00000417368.2_Silent_p.F542F|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	542	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTGCCACCAAGAAGCCCAGCT	0.338													13	48					0	0	0	0	A	121738533	G	A	121738533	2	1	19	1	0	0	0	0	0	0	0	1	24	933	33	2		2	AASS	7	121738533	Silent	SNP	G	TCGA-BA-6872-01A-11D-1870-08	66519535	121738533	37400130	74	4203											
KIAA1549	57670	broad.mit.edu	37	chr7	138524925	138524925	+	Missense_Mutation	SNP	G	G	T																															cccgtacgaaggccagcctgGccccccatactggctgcctc																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:138524925G>T	ENST00000440172.1	-	19	5599	c.5551C>A	c.(5551-5553)Cca>Aca	p.P1851T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1801T|KIAA1549_ENST00000422774.1_Missense_Mutation_p.P1851T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1851						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGCCAGCCTGGCCCCCCATAC	0.582			O	BRAF	pilocytic astrocytoma								3	3					0.004672	0.00493607	1	0	T	138524925	G	T	138524925	3	4	19	1	0	0	0	0	1	0	0	0	8295	1203	42	4	309	4	KIAA1549	7	138524925	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	16786392	138524925	20613738	75	4204	44	2									
KIAA1549	57670	broad.mit.edu	37	chr7	138524926	138524926	+	Silent	SNP	C	C	T																															ccgtacgaaggccagcctggCcccccatactggctgcctct																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:138524926C>T	ENST00000440172.1	-	19	5598	c.5550G>A	c.(5548-5550)ggG>ggA	p.G1850G	KIAA1549_ENST00000242365.4_Silent_p.G1800G|KIAA1549_ENST00000422774.1_Silent_p.G1850G	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1850						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCCAGCCTGGCCCCCCATACT	0.582			O	BRAF	pilocytic astrocytoma								3	3					0	0	0	0	T	138524926	C	T	138524926	2	4	19	1	0	0	0	0	0	0	0	1	8295	726	26	4		4	KIAA1549	7	138524926	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08	1	138524926	20613737	76	4205	44	2									
CLCN1	1180	broad.mit.edu	37	chr7	143020479	143020479	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttctgcggggtatatgaGgtaaggttgagacagtgaaa	11	11	16	3	1	1	3	0	3	1	1	1	4	1	3	0	4	1	4	0	4	4	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:143020479G>C	ENST00000343257.2	+	6	861	c.774_splice	c.e6+1	p.E258_splice	CLCN1_ENST00000495612.1_Intron	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	258					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)					GGGTATATGAGGTAAGGTTGA	0.602													16	63					0	0	0	0	C	143020479	G	C	143020479	5	2	19	1	0	0	0	0	0	0	1	0	3492	1014	35	4	796	4	CLCN1	7	143020479	Splice_Site	SNP	G	TCGA-BA-6872-01A-11D-1870-08	4495553	143020479	16118184	77	4206											
ZNF746	155061	broad.mit.edu	37	chr7	149191396	149191396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgcctctgcagcagccCgtactcctgcagcagggtcc	6	6	11	18	2	1	0	0	0	1	0	3	0	3	0	5	1	7	5	5	1	1	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:149191396C>A	ENST00000461958.2	-	2	419	c.223G>T	c.(223-225)Ggg>Tgg	p.G75W	ZNF746_ENST00000340622.3_Missense_Mutation_p.G75W|ZNF746_ENST00000458143.2_Missense_Mutation_p.G75W			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	75					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCAGCAGCCCGTACTCCTGC	0.652													4	166					0.00909568	0.00944551	1	0	A	149191396	C	A	149191396	3	1	19	1	0	0	0	0	1	0	0	0	18223	652	23	3	1738	3	ZNF746	7	149191396	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	6170917	149191396	9947267	78	4207											
STC1	6781	broad.mit.edu	37	chr8	23702493	23702493	+	Frame_Shift_Del	DEL	G	G	-																															ttctccatcaggctgtctctGattgtgctgactgtgtcttc																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:23702493delG	ENST00000290271.2	-	4	817	c.534delC	c.(532-534)atfs	p.I178fs	STC1_ENST00000524323.1_Frame_Shift_Del_p.I109fs	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	178					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGCTGTCTCTGATTGTGCTGA	0.502													50	41	---	---	---	---					-	23702493	G	-	23702493	7	5	19	1	0	1	0	1	0	0	0	0	15365	1280	45	0	213	0	STC1	8	23702493	Frame_Shift_Del	DEL	G	TCGA-BA-6872-01A-11D-1870-08		23702493	122661529	79	4208											
ADAM2	2515	broad.mit.edu	37	chr8	39613286	39613286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttccatcttttatccacatCttttggctgtctgcatgatc	6	18	6	11	0	3	1	0	1	3	0	6	1	5	1	2	1	1	3	2	1	1	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:39613286C>G	ENST00000265708.4	-	16	1861	c.1758G>C	c.(1756-1758)aaG>aaC	p.K586N	ADAM2_ENST00000347580.4_Missense_Mutation_p.K567N|ADAM2_ENST00000379853.2_Missense_Mutation_p.K430N|ADAM2_ENST00000521880.1_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	586	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTATCCACATCTTTTGGCTGT	0.348													25	10					0	0	0	0	G	39613286	C	G	39613286	3	3	19	1	0	0	0	0	1	0	0	0	241	912	32	2	469	2	ADAM2	8	39613286	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	15910793	39613286	106750736	80	4209											
POTEA	340441	broad.mit.edu	37	chr8	43147924	43147924	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaagggacaagaagaaGaggtaaccgggcctggggct	16	3	15	7	1	0	3	0	0	0	3	0	4	0	4	2	5	2	2	2	5	7	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:43147924G>T	ENST00000522175.2	+	0	299							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACAAGAAGAAGAGGTAACCGG	0.627													9	23					0.000673444	0.000733843	1	0	T	43147924	G	T	43147924	1	4	19	0	1	0	0	0	0	0	0	0	12333	933	33	2		2	POTEA	8	43147924	RNA	SNP	G	TCGA-BA-6872-01A-11D-1870-08	3534638	43147924	103216098	81	4210											
ZFHX4	79776	broad.mit.edu	37	chr8	77763747	77763747	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agaaaagggcccaattttacGatggaaaaattccttgatcc	15	10	8	8	1	0	2	0	1	0	1	2	4	2	3	3	2	1	0	3	2	6	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:77763747G>C	ENST00000521891.2	+	10	5038	c.4590G>C	c.(4588-4590)acG>acC	p.T1530T	ZFHX4_ENST00000455469.2_Silent_p.T1485T|ZFHX4_ENST00000518282.1_Silent_p.T1504T|ZFHX4_ENST00000050961.6_Silent_p.T1485T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1485						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAATTTTACGATGGAAAAAT	0.403										HNSCC(33;0.089)			4	45					0	0	0	0	C	77763747	G	C	77763747	2	2	19	1	0	0	0	0	0	0	0	1	17730	1045	37	3		3	ZFHX4	8	77763747	Silent	SNP	G	TCGA-BA-6872-01A-11D-1870-08	34615823	77763747	68600275	82	4211											
MMP16	4325	broad.mit.edu	37	chr8	89128802	89128802	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcccatcacagatgttgggTttggctccgggataggaggg	7	11	15	8	1	1	1	1	0	0	1	3	3	3	3	2	5	0	3	2	5	1	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:89128802T>G	ENST00000286614.6	-	6	1298	c.1017A>C	c.(1015-1017)aaA>aaC	p.K339N	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	339					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						AGATGTTGGGTTTGGCTCCGG	0.483													44	56					0	0	0	0	G	89128802	T	G	89128802	3	3	19	1	0	0	0	0	1	0	0	0	9724	1722	60	5	982	5	MMP16	8	89128802	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	11365055	89128802	57235220	83	4212											
CSMD3	114788	broad.mit.edu	37	chr8	113256689	113256689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctatgttctgttccacCtgctaagaagaagccaggct	10	11	8	12	0	2	2	0	0	2	2	3	2	3	2	3	1	2	4	3	1	4	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:113256689C>T	ENST00000297405.5	-	65	10580	c.10336G>A	c.(10336-10338)Ggt>Agt	p.G3446S	CSMD3_ENST00000455883.2_Missense_Mutation_p.G3277S|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3406S|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3376S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3446	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGTTCCACCTGCTAAGAAG	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	59					0	0	0	0	T	113256689	C	T	113256689	3	4	19	1	0	0	0	0	1	0	0	0	3978	681	24	4	815	4	CSMD3	8	113256689	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	24127887	113256689	33107333	84	4213											
CSMD3	114788	broad.mit.edu	37	chr8	113317029	113317029	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaggacctagtccatgAtaaccagggtcacagctgaa	13	6	12	10	0	1	2	1	2	0	0	2	4	2	3	3	3	2	2	3	3	3	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:113317029A>G	ENST00000297405.5	-	52	8431	c.8187T>C	c.(8185-8187)taT>taC	p.Y2729Y	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Silent_p.Y2689Y|CSMD3_ENST00000352409.3_Silent_p.Y2659Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2729	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTAGTCCATGATAACCAGGGT	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	47					0	0	0	0	G	113317029	A	G	113317029	2	3	19	1	0	0	0	0	0	0	0	1	3978	340	12	5		5	CSMD3	8	113317029	Silent	SNP	A	TCGA-BA-6872-01A-11D-1870-08	60340	113317029	33046993	85	4214											
TRMT12	55039	broad.mit.edu	37	chr8	125463385	125463385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttccagagcagcacctgcagGagctgaggaatcgtgttgcc	9	8	13	11	1	0	2	0	1	0	1	2	4	1	4	3	2	5	5	3	2	1	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:125463385G>A	ENST00000328599.3	+	1	338	c.217G>A	c.(217-219)Gag>Aag	p.E73K	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	73					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCACCTGCAGGAGCTGAGGAA	0.592													8	44					0	0	0	0	A	125463385	G	A	125463385	3	1	19	1	0	0	0	0	1	0	0	0	16659	1175	41	2	219	2	TRMT12	8	125463385	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	12146356	125463385	20900637	86	4215											
CDKN2A	1029	broad.mit.edu	37	chr9	21970971	21970971	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccccgcagccgcgcgcagGtaccgtgcgacatcgcgatg	6	4	13	18	8	0	0	0	0	0	0	1	2	0	0	5	1	3	3	5	1	1	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr9:21970971G>T	ENST00000304494.5	-	2	657	c.387C>A	c.(385-387)taC>taA	p.Y129*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.Y78*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Y129*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.Y78*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Y129*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.Y78*|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.Y78*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.Y78*|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000579122.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	129					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(13)|p.Y129*(7)|p.R128fs*12(3)|p.R128fs*9(2)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGCGCGCAGGTACCGTGCGA	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			20	12					1.55795e-14	1.82889e-14	1	0	T	21970971	G	T	21970971	4	4	19	1	0	0	0	0	0	1	0	0	3190	1256	44	4	91	4	CDKN2A	9	21970971	Nonsense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08		21970971	119242460	87	4216											
PRKCQ	5588	broad.mit.edu	37	chr10	6470234	6470234	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaacatattctggtccaTgctgttgatcagtgctctgt	7	15	9	10	0	3	2	1	2	2	0	4	2	4	2	2	1	3	3	2	1	2	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:6470234T>C	ENST00000263125.5	-	18	2155	c.2056A>G	c.(2056-2058)Atg>Gtg	p.M686V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.M623V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.M561V	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	686	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TTCTGGTCCATGCTGTTGATC	0.468													122	93					0	0	0	0	C	6470234	T	C	6470234	3	2	19	1	0	0	0	0	1	0	0	0	12595	1464	51	5	68	5	PRKCQ	10	6470234	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08		6470234	129064513	88	4217											
PCDH15	65217	broad.mit.edu	37	chr10	55955582	55955594	+	Frame_Shift_Del	DEL	TTTTCATCCAGTA	TTTTCATCCAGTA	-																															taaaatatggactttgattgTtttcatccagtatttcaatg																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:55955582_55955594delTTTTCATCCAGTA	ENST00000373965.2	-	11	1548_1560	c.1154_1166delTACTGGATGAAAA	c.(1153-1167)acfs	p.ILDEN385fs	PCDH15_ENST00000395430.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000414778.1_Frame_Shift_Del_p.ILDEN390fs|PCDH15_ENST00000395446.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000437009.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000395445.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000395438.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000373957.3_Frame_Shift_Del_p.ILDEN363fs|PCDH15_ENST00000395433.1_Frame_Shift_Del_p.ILDEN363fs|PCDH15_ENST00000320301.6_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000373955.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000395440.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000361849.3_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Frame_Shift_Del_p.ILDEN348fs	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	385	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.E393K(2)|p.E388K(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTTTGATTGTTTTCATCCAGTATTTCAATGTG	0.39										HNSCC(58;0.16)			7	47	---	---	---	---					-	55955594	TTTTCATCCAGTA	-	55955582	7	5	19	1	0	1	0	1	0	0	0	0	11582	1725	60	0	6437	0	PCDH15	10	55955582	Frame_Shift_Del	DEL	TTTTCATCCAGTA	TCGA-BA-6872-01A-11D-1870-08	49485348	55955582	79579165	89	4218											
ASCC1	51008	broad.mit.edu	37	chr10	73892814	73892814	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atagttctctgggggacttaCcattggggtctttcctgaat	7	15	11	8	0	2	1	0	1	2	0	4	2	3	2	2	4	1	1	2	4	3	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:73892814C>G	ENST00000342444.4	-	9	1057		c.e9+1		ASCC1_ENST00000394919.1_Splice_Site|ASCC1_ENST00000317168.6_Splice_Site|ASCC1_ENST00000545550.1_Splice_Site|ASCC1_ENST00000394915.3_Splice_Site|ASCC1_ENST00000317126.4_Splice_Site	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						GGGGGACTTACCATTGGGGTC	0.428													10	81					0	0	0	0	G	73892814	C	G	73892814	5	3	19	1	0	0	0	0	0	0	1	0	1035	521	18	4	213	4	ASCC1	10	73892814	Splice_Site	SNP	C	TCGA-BA-6872-01A-11D-1870-08	17937232	73892814	61641933	90	4219											
DLG5	9231	broad.mit.edu	37	chr10	79616567	79616567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgggtcatcagccgcaGctgaatggagaggttctcca	8	8	12	13	2	3	2	2	1	1	1	5	3	4	2	3	3	2	3	3	3	1	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:79616567G>T	ENST00000372391.2	-	3	462	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	DLG5_ENST00000372388.2_Missense_Mutation_p.L153M	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	153					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATCAGCCGCAGCTGAATGGAG	0.597													7	58					0.00307968	0.00328229	1	0	T	79616567	G	T	79616567	3	4	19	1	0	0	0	0	1	0	0	0	4595	962	34	4	5422	4	DLG5	10	79616567	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	5723753	79616567	55918180	91	4220											
SH2D4B	387694	broad.mit.edu	37	chr10	82330001	82330001	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccctggtgacaagccctaCgaagagatctctgaggagct	10	7	13	11	1	1	3	0	2	1	1	2	6	1	4	2	3	3	1	2	3	3	1	rs149783849	byFrequency	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:82330001C>T	ENST00000339284.2	+	2	706	c.276C>T	c.(274-276)taC>taT	p.Y92Y	SH2D4B_ENST00000470604.2_Silent_p.Y91Y|SH2D4B_ENST00000313455.4_Silent_p.Y43Y	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	91	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			ACAAGCCCTACGAAGAGATCT	0.597													36	93					0	0	0	0	T	82330001	C	T	82330001	2	4	19	1	0	0	0	0	0	0	0	1	14323	547	19	1		1	SH2D4B	10	82330001	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08	2713434	82330001	53204746	92	4221											
BTAF1	9044	broad.mit.edu	37	chr10	93741428	93741428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaactgttgagtaaggcttCagttcagtatgtggtagcag	10	12	14	5	0	2	1	2	1	0	0	2	2	2	2	0	3	2	7	0	3	4	6			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:93741428C>T	ENST00000265990.6	+	16	2092	c.1784C>T	c.(1783-1785)tCa>tTa	p.S595L	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	595					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGTAAGGCTTCAGTTCAGTAT	0.398													34	183					0	0	0	0	T	93741428	C	T	93741428	3	4	19	1	0	0	0	0	1	0	0	0	1544	838	29	2	1846	2	BTAF1	10	93741428	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	11411427	93741428	41793319	93	4222											
FRA10AC1	118924	broad.mit.edu	37	chr10	95452474	95452474	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtataacatccaagtctgtCttgtcattttccctggaaaa	11	14	6	10	1	3	0	1	0	2	0	5	1	5	1	2	1	1	1	2	1	5	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:95452474C>G	ENST00000359204.4	-	6	506	c.309G>C	c.(307-309)aaG>aaC	p.K103N	FRA10AC1_ENST00000394100.2_Missense_Mutation_p.K103N|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.K103N|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.K103N	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	103						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						CCAAGTCTGTCTTGTCATTTT	0.338													17	85					0	0	0	0	G	95452474	C	G	95452474	3	3	19	1	0	0	0	0	1	0	0	0	6088	912	32	2	674	2	FRA10AC1	10	95452474	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	1711046	95452474	40082273	94	4223											
DNTT	1791	broad.mit.edu	37	chr10	98078208	98078208	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcagctcacaaccagagctCctcgatgtctcctggctgat	8	10	9	14	1	3	2	2	1	1	1	6	3	4	2	3	1	3	3	3	1	1	0			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:98078208C>A	ENST00000419175.1	+	2	473	c.303C>A	c.(301-303)ctC>ctA	p.L101L	DNTT_ENST00000371174.2_Silent_p.L101L	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	101	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AACCAGAGCTCCTCGATGTCT	0.488													52	110					5.13769e-22	6.09004e-22	1	0	A	98078208	C	A	98078208	2	1	19	1	0	0	0	0	0	0	0	1	4716	842	30	2		2	DNTT	10	98078208	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08	2625734	98078208	37456539	95	4224											
SORCS1	114815	broad.mit.edu	37	chr10	108437080	108437080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgcccttaccaaagatgtCgaattgggagagatgtgtgt	10	12	13	6	1	0	2	0	0	0	2	1	5	0	3	2	1	2	0	2	1	3	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:108437080C>T	ENST00000263054.6	-	13	1830	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	SORCS1_ENST00000369698.1_Missense_Mutation_p.R143Q|SORCS1_ENST00000344440.6_Missense_Mutation_p.R608Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	608						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCAAAGATGTCGAATTGGGAG	0.463													22	53					0	0	0	0	T	108437080	C	T	108437080	3	4	19	1	0	0	0	0	1	0	0	0	15018	884	31	1	1973	1	SORCS1	10	108437080	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	10358872	108437080	27097667	96	4225											
SORCS1	114815	broad.mit.edu	37	chr10	108489807	108489807	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcaaagttgatttacttaCgaccatccacagttctggcc	10	11	8	12	2	1	1	0	1	1	0	2	2	2	1	3	2	2	3	3	2	3	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:108489807C>T	ENST00000263054.6	-	6	1032		c.e6+1		SORCS1_ENST00000344440.6_Splice_Site	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1							integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GATTTACTTACGACCATCCAC	0.383													4	81					0	0	0	0	T	108489807	C	T	108489807	5	4	19	1	0	0	0	0	0	0	1	0	15018	550	19	1	2799	1	SORCS1	10	108489807	Splice_Site	SNP	C	TCGA-BA-6872-01A-11D-1870-08	52727	108489807	27044940	97	4226											
C10orf137	26098	broad.mit.edu	37	chr10	127414390	127414390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttcttcagtttctgaagatCccagtgcttccagtcaggtt	7	15	8	11	0	4	2	2	1	2	1	6	2	6	2	2	1	1	3	2	1	1	5	rs149421957		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:127414390C>G	ENST00000337623.3	+	6	880	c.775C>G	c.(775-777)Ccc>Gcc	p.P259A	C10orf137_ENST00000356792.4_Missense_Mutation_p.P259A	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTCTGAAGATCCCAGTGCTTC	0.408													5	63					0	0	0	0	G	127414390	C	G	127414390	3	3	19	1	0	0	0	0	1	0	0	0	1604	855	30	2	797	2	C10orf137	10	127414390	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	18924583	127414390	8120357	98	4227											
UROS	7390	broad.mit.edu	37	chr10	127503624	127503624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcagttttattgttttgctCcaaacataactctgctgctt	8	19	5	9	0	2	0	1	0	1	0	3	0	3	0	1	0	5	5	1	0	3	8			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:127503624C>G	ENST00000368778.3	-	4	416	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	UROS_ENST00000368786.1_Missense_Mutation_p.E75Q|UROS_ENST00000368797.4_Missense_Mutation_p.E75Q|UROS_ENST00000368774.1_Missense_Mutation_p.E75Q			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	75					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity	p.E75K(1)		endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TTGTTTTGCTCCAAACATAAC	0.443													6	59					0	0	0	0	G	127503624	C	G	127503624	3	3	19	1	0	0	0	0	1	0	0	0	17126	864	30	2	602	2	UROS	10	127503624	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	89234	127503624	8031123	99	4228											
MUC5B	727897	broad.mit.edu	37	chr11	1272931	1272931	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccccagctcccacttctctActccctgcttctgcagggca	5	11	6	19	0	2	0	0	0	2	0	6	0	5	0	4	1	4	4	4	1	1	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:1272931A>G	ENST00000447027.1	+	31	14888	c.14830A>G	c.(14830-14832)Act>Gct	p.T4944A	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4941A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4941					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACTTCTCTACTCCCTGCTT	0.582													7	23					0	0	0	0	G	1272931	A	G	1272931	3	3	19	1	0	0	0	0	1	0	0	0	10049	391	14	5	14952	5	MUC5B	11	1272931	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08		1272931	133733585	100	4229											
FAR1	84188	broad.mit.edu	37	chr11	13736146	13736146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctccaatcatcttttatAtcattactggattgctgtaa	12	16	4	9	0	3	0	2	0	1	0	4	1	4	1	2	1	3	2	2	1	6	6			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:13736146A>G	ENST00000354817.3	+	9	1190	c.1046A>G	c.(1045-1047)tAt>tGt	p.Y349C	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	349					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CATCTTTTATATCATTACTGG	0.438													9	29					0	0	0	0	G	13736146	A	G	13736146	3	3	19	1	0	0	0	0	1	0	0	0	5719	449	16	5	1076	5	FAR1	11	13736146	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	12463215	13736146	121270370	101	4230											
PLEKHA7	144100	broad.mit.edu	37	chr11	16816213	16816213	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggcttgctctcagaagttGagagtgaaggcacaggcggg	9	7	17	8	2	1	3	1	2	1	2	2	4	1	3	0	4	1	4	0	4	2	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:16816213G>C	ENST00000355661.3	-	19	2577	c.2567C>G	c.(2566-2568)tCa>tGa	p.S856*	PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.S856*|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.S856*|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	856	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CTCAGAAGTTGAGAGTGAAGG	0.582													7	54					0	0	0	0	C	16816213	G	C	16816213	4	2	19	1	0	0	0	0	0	1	0	0	12133	1294	45	2	818	2	PLEKHA7	11	16816213	Nonsense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	3080067	16816213	118190303	102	4231											
OSBP	5007	broad.mit.edu	37	chr11	59376155	59376155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagagggtccgaagggtattCtgcagctcagtcttgtcagt	8	11	14	8	1	4	1	2	0	2	1	5	3	5	1	1	2	2	3	1	2	2	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:59376155C>G	ENST00000263847.1	-	3	1103	c.624G>C	c.(622-624)caG>caC	p.Q208H		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	208					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GAAGGGTATTCTGCAGCTCAG	0.468													7	66					0	0	0	0	G	59376155	C	G	59376155	3	3	19	1	0	0	0	0	1	0	0	0	11344	912	32	2	1847	2	OSBP	11	59376155	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	42559942	59376155	75630361	103	4232											
DDB1	1642	broad.mit.edu	37	chr11	61080987	61080987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacctgtcaggatagccatCtgaattgaggggacacatgt	11	10	11	9	0	3	2	2	2	1	0	3	4	3	4	2	3	1	0	2	3	2	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:61080987C>T	ENST00000301764.7	-	16	2450	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	685	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGATAGCCATCTGAATTGAGG	0.433								Nucleotide excision repair (NER)					17	124					0	0	0	0	T	61080987	C	T	61080987	3	4	19	1	0	0	0	0	1	0	0	0	4355	913	32	2	1417	2	DDB1	11	61080987	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	1704832	61080987	73925529	104	4233											
CATSPER1	117144	broad.mit.edu	37	chr11	65793160	65793160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctggtgggcttcatgatGacgggacctgccatggtggt	6	11	16	8	1	1	2	1	2	0	0	1	3	1	3	2	5	2	2	2	5	0	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:65793160G>A	ENST00000312106.5	-	1	828	c.691C>T	c.(691-693)Cat>Tat	p.H231Y		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	231	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GCTTCATGATGACGGGACCTG	0.582													40	22					0	0	0	0	A	65793160	G	A	65793160	3	1	19	1	0	0	0	0	1	0	0	0	2712	1290	45	2	1699	2	CATSPER1	11	65793160	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	4712173	65793160	69213356	105	4234											
PPFIA1	8500	broad.mit.edu	37	chr11	70202282	70202282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagctggtgtttccgagaCggataactcatctcaggatg	10	10	11	10	2	2	1	2	0	1	1	4	4	3	3	1	3	2	2	1	3	1	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:70202282C>T	ENST00000253925.7	+	19	2719	c.2504C>T	c.(2503-2505)aCg>aTg	p.T835M	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.T835M	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	835					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTTTCCGAGACGGATAACTCA	0.403													21	1879					0	0	0	0	T	70202282	C	T	70202282	3	4	19	1	0	0	0	0	1	0	0	0	12380	536	19	1	2574	1	PPFIA1	11	70202282	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	4409122	70202282	64804234	106	4235											
CTTN	2017	broad.mit.edu	37	chr11	70267604	70267604	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actggttttggaggcaaattCggtgttcagtcggagaggca	9	11	15	6	2	1	1	1	0	0	1	3	3	1	2	0	6	0	4	0	6	1	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:70267604C>T	ENST00000301843.8	+	11	1025	c.819C>T	c.(817-819)ttC>ttT	p.F273F	CTTN_ENST00000538675.1_Intron|CTTN_ENST00000346329.3_Intron|CTTN_ENST00000376561.3_Intron	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	273						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GAGGCAAATTCGGTGTTCAGT	0.507													22	4260					0	0	0	0	T	70267604	C	T	70267604	2	4	19	1	0	0	0	0	0	0	0	1	4076	883	31	1		1	CTTN	11	70267604	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08	65322	70267604	64738912	107	4236											
NADSYN1	55191	broad.mit.edu	37	chr11	71191849	71191849	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtggactttgccctcTcgtgccacgaggacttgctg	6	11	13	11	2	1	1	0	1	1	0	2	4	1	3	2	3	3	1	2	3	1	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:71191849T>C	ENST00000319023.2	+	11	1110	c.922T>C	c.(922-924)Tcg>Ccg	p.S308P	NADSYN1_ENST00000530055.1_5'UTR|NADSYN1_ENST00000539574.1_Missense_Mutation_p.S48P|NADSYN1_ENST00000526039.2_3'UTR	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	308					NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTTGCCCTCTCGTGCCACGA	0.592													7	300					0	0	0	0	C	71191849	T	C	71191849	3	2	19	1	0	0	0	0	1	0	0	0	10208	1551	54	5	964	5	NADSYN1	11	71191849	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	924245	71191849	63814667	108	4237											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238436	71238436	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctctggctgtgggggAtgtggctccagctgctgtgt	2	13	18	8	0	1	0	0	0	1	0	2	1	2	1	1	5	2	5	1	5	0	0			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:71238436A>C	ENST00000398536.4	+	1	124	c.90A>C	c.(88-90)ggA>ggC	p.G30G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	30						keratin filament		p.G30G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GCTGTGGGGGATGTGGCTCCA	0.677													9	1179					0	0	0	0	C	71238436	A	C	71238436	2	2	19	1	0	0	0	0	0	0	0	1	8619	320	12	5		5	KRTAP5-7	11	71238436	Silent	SNP	A	TCGA-BA-6872-01A-11D-1870-08	46587	71238436	63768080	109	4238											
FAT3	120114	broad.mit.edu	37	chr11	92577879	92577879	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgcgtttctacaggaaCgtgcgttgcacctgcaatgg	7	11	12	11	4	1	0	0	0	1	0	2	1	2	1	2	2	5	4	2	2	3	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:92577879C>T	ENST00000298047.6	+	18	11363	c.11346C>T	c.(11344-11346)aaC>aaT	p.N3782N	FAT3_ENST00000409404.2_Silent_p.N3782N|FAT3_ENST00000525166.1_Silent_p.N3632N|FAT3_ENST00000533797.1_Silent_p.N117N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3782					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTACAGGAACGTGCGTTGCA	0.512										TCGA Ovarian(4;0.039)			4	4					0	0	0	0	T	92577879	C	T	92577879	2	4	19	1	0	0	0	0	0	0	0	1	5736	535	19	1		1	FAT3	11	92577879	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08	21339443	92577879	42428637	110	4239											
PIWIL4	143689	broad.mit.edu	37	chr11	94349700	94349700	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagagaacaatgactgatgTtgcagattgcttgaaagttt	13	13	10	5	0	1	5	1	3	0	2	1	6	1	5	0	0	3	4	0	0	3	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:94349700T>C	ENST00000299001.6	+	16	2196	c.1985T>C	c.(1984-1986)gTt>gCt	p.V662A	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	662	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGACTGATGTTGCAGATTGC	0.343													14	34					0	0	0	0	C	94349700	T	C	94349700	3	2	19	1	0	0	0	0	1	0	0	0	12032	1725	60	5	2047	5	PIWIL4	11	94349700	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	1771821	94349700	40656816	111	4240											
KBTBD3	143879	broad.mit.edu	37	chr11	105924371	105924371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacatttccctttgcaacCacctgtcaagaatattttct	12	14	3	12	0	2	1	1	0	1	1	3	1	3	1	3	0	3	1	3	0	5	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:105924371C>T	ENST00000526793.1	-	3	1204	c.1045G>A	c.(1045-1047)Ggt>Agt	p.G349S	KBTBD3_ENST00000534815.1_Missense_Mutation_p.G270S|KBTBD3_ENST00000531837.1_Missense_Mutation_p.G349S	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	345										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CCTTTGCAACCACCTGTCAAG	0.423													11	20					0	0	0	0	T	105924371	C	T	105924371	3	4	19	1	0	0	0	0	1	0	0	0	8047	594	21	4	797	4	KBTBD3	11	105924371	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	11574671	105924371	29082145	112	4241											
ROBO4	54538	broad.mit.edu	37	chr11	124757312	124757312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaggggtgctggagggaGatgacgagtaaccagctcat	13	6	16	6	1	1	3	1	1	0	2	1	6	1	4	1	4	3	3	1	4	2	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:124757312G>A	ENST00000306534.3	-	14	2625	c.2140C>T	c.(2140-2142)Ctc>Ttc	p.L714F	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.L569F	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	714					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCTGGAGGGAGATGACGAGTA	0.602													17	49					0	0	0	0	A	124757312	G	A	124757312	3	1	19	1	0	0	0	0	1	0	0	0	13601	942	33	2	903	2	ROBO4	11	124757312	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	18832941	124757312	10249204	113	4242											
ADAMTS20	80070	broad.mit.edu	37	chr12	43822440	43822440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcataagaatacttacggGtgaccaatcccctgcttgcc	10	11	7	13	1	1	2	1	1	1	1	3	2	2	2	4	1	4	1	4	1	5	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:43822440G>T	ENST00000389420.3	-	25	3651	c.3652C>A	c.(3652-3654)Ccc>Acc	p.P1218T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1218T|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P336T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1218	TSP type-1 8.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATACTTACGGGTGACCAATCC	0.333													4	12					0.00909568	0.00944551	1	0	T	43822440	G	T	43822440	3	4	19	1	0	0	0	0	1	0	0	0	266	1261	44	4	2139	4	ADAMTS20	12	43822440	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08		43822440	90029455	114	4243											
AAAS	8086	broad.mit.edu	37	chr12	53708119	53708119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtccagggtccagataaGaatgcagctctggcaggcca	11	6	14	10	0	1	2	0	0	1	2	3	2	3	2	3	4	2	3	3	4	2	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:53708119G>A	ENST00000209873.4	-	7	817	c.652C>T	c.(652-654)Ctt>Ttt	p.L218F	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Missense_Mutation_p.L185F|AAAS_ENST00000550286.1_Missense_Mutation_p.L94F	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	218					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GTCCAGATAAGAATGCAGCTC	0.587													21	119					0	0	0	0	A	53708119	G	A	53708119	3	1	19	1	0	0	0	0	1	0	0	0	8	942	33	2	1028	2	AAAS	12	53708119	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	9885679	53708119	80143776	115	4244											
TRHDE	29953	broad.mit.edu	37	chr12	73012775	73012775	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagccgagctctttatcctcTagataaattactggaccgca	11	11	7	12	2	2	1	0	0	2	1	3	3	3	2	3	1	3	2	3	1	5	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:73012775T>C	ENST00000261180.4	+	13	2387	c.2291T>C	c.(2290-2292)cTa>cCa	p.L764P		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	764					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTTTATCCTCTAGATAAATTA	0.353													9	45					0	0	0	0	C	73012775	T	C	73012775	3	2	19	1	0	0	0	0	1	0	0	0	16574	1522	53	5	2341	5	TRHDE	12	73012775	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	19304656	73012775	60839120	116	4245											
TRHDE	29953	broad.mit.edu	37	chr12	73015465	73015465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatgctggcctgcagttttgGcaacaagcactgtcaccaac	11	9	9	12	0	1	0	1	0	0	0	1	0	1	0	2	2	5	5	2	2	4	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:73015465G>T	ENST00000261180.4	+	15	2570	c.2474G>T	c.(2473-2475)gGc>gTc	p.G825V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	825					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCAGTTTTGGCAACAAGCAC	0.373													6	24					0.00198382	0.00212365	1	0	T	73015465	G	T	73015465	3	4	19	1	0	0	0	0	1	0	0	0	16574	1203	42	4	2532	4	TRHDE	12	73015465	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	2690	73015465	60836430	117	4246											
TMCC3	57458	broad.mit.edu	37	chr12	94965347	94965347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgggtgagacgaacttcGcgatggtggacacacacact	11	8	12	10	3	1	1	1	1	0	1	2	5	1	2	0	3	1	0	0	3	1	1	rs149413079	byFrequency	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:94965347G>A	ENST00000261226.4	-	4	1429	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	TMCC3_ENST00000551457.1_Missense_Mutation_p.A402V	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	433						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GACGAACTTCGCGATGGTGGA	0.488													21	77					0	0	0	0	A	94965347	G	A	94965347	3	1	19	1	0	0	0	0	1	0	0	0	16088	1087	38	1	139	1	TMCC3	12	94965347	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	21949882	94965347	38886548	118	4247											
C12orf42	374470	broad.mit.edu	37	chr12	103695998	103695998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaacctttattaacctcttgGaggggaaatgggtggaagca	13	10	12	6	0	1	0	0	0	1	0	1	3	1	3	2	5	3	1	2	5	5	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:103695998G>T	ENST00000548048.1	-	9	1266	c.770C>A	c.(769-771)tCc>tAc	p.S257Y	C12orf42_ENST00000378113.2_Missense_Mutation_p.S324Y|C12orf42_ENST00000548883.1_Missense_Mutation_p.S324Y|C12orf42_ENST00000315192.8_Intron			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	324										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TAACCTCTTGGAGGGGAAATG	0.622													22	54					2.89027e-11	3.36045e-11	1	0	T	103695998	G	T	103695998	3	4	19	1	0	0	0	0	1	0	0	0	1700	1174	41	2	115	2	C12orf42	12	103695998	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	8730651	103695998	30155897	119	4248											
APPL2	55198	broad.mit.edu	37	chr12	105591721	105591721	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaggtggtggtgaccaGccctgttttgctgtgagttg	4	13	14	10	0	0	2	0	2	0	0	1	2	1	2	3	3	2	3	3	3	0	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:105591721G>C	ENST00000258530.3	-	11	1099	c.874C>G	c.(874-876)Ctg>Gtg	p.L292V	APPL2_ENST00000549573.1_Intron|APPL2_ENST00000539978.2_Missense_Mutation_p.L249V|APPL2_ENST00000551662.1_Missense_Mutation_p.L298V	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	292	PH.|Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTGGTGACCAGCCCTGTTTTG	0.542													5	27					0	0	0	0	C	105591721	G	C	105591721	3	2	19	1	0	0	0	0	1	0	0	0	820	962	34	4	1164	4	APPL2	12	105591721	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	1895723	105591721	28260174	120	4249											
PRDM4	11108	broad.mit.edu	37	chr12	108145684	108145684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacaccgtccatcgtaagctCctctgccattccatctgtcg	8	11	6	16	3	2	0	0	0	2	0	7	0	5	0	5	0	3	2	5	0	2	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:108145684C>T	ENST00000228437.5	-	5	1093	c.634G>A	c.(634-636)Gag>Aag	p.E212K	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	212					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						ATCGTAAGCTCCTCTGCCATT	0.512													8	89					0	0	0	0	T	108145684	C	T	108145684	3	4	19	1	0	0	0	0	1	0	0	0	12539	864	30	2	1803	2	PRDM4	12	108145684	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	2553963	108145684	25706211	121	4250											
TMEM119	338773	broad.mit.edu	37	chr12	108985942	108985942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggtgatgggccccccaggGttatgggctggggccccatc	4	7	18	12	0	0	1	0	1	0	0	1	1	0	1	5	7	0	2	5	7	1	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:108985942G>A	ENST00000392806.3	-	2	386	c.218C>T	c.(217-219)aCc>aTc	p.T73I		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	73						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GCCCCCCAGGGTTATGGGCTG	0.677													14	55					0	0	0	0	A	108985942	G	A	108985942	3	1	19	1	0	0	0	0	1	0	0	0	16126	1261	44	4	637	4	TMEM119	12	108985942	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	840258	108985942	24865953	122	4251											
ANAPC7	51434	broad.mit.edu	37	chr12	110834183	110834183	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttactcacagcattccgaTattccttatcatgaaagaga	14	12	5	10	1	2	2	2	1	0	1	4	4	4	2	2	0	2	1	2	0	4	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:110834183T>C	ENST00000455511.3	-	2	278	c.278A>G	c.(277-279)tAt>tGt	p.Y93C	ANAPC7_ENST00000450008.2_Missense_Mutation_p.Y93C|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	93					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						AGCATTCCGATATTCCTTATC	0.383													15	22					0	0	0	0	C	110834183	T	C	110834183	3	2	19	1	0	0	0	0	1	0	0	0	606	1406	49	5	1565	5	ANAPC7	12	110834183	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	1848241	110834183	23017712	123	4252											
VPS29	51699	broad.mit.edu	37	chr12	110929916	110929916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatccatcaacacaaatgatGgaataatgtttctagaagaa	18	11	6	6	0	2	3	1	1	1	2	3	4	3	4	1	1	1	1	1	1	8	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:110929916G>A	ENST00000549578.1	-	4	508	c.443C>T	c.(442-444)cCa>cTa	p.P148L	VPS29_ENST00000447578.2_Missense_Mutation_p.P53L|VPS29_ENST00000360579.7_Missense_Mutation_p.P152L|VPS29_ENST00000546588.1_Missense_Mutation_p.P180L|VPS29_ENST00000552130.2_Missense_Mutation_p.P53L|VPS29_ENST00000549970.1_Missense_Mutation_p.P53L	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	148					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CACAAATGATGGAATAATGTT	0.328													5	29					0	0	0	0	A	110929916	G	A	110929916	3	1	19	1	0	0	0	0	1	0	0	0	17296	1348	47	4	109	4	VPS29	12	110929916	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	95733	110929916	22921979	124	4253											
KSR2	283455	broad.mit.edu	37	chr12	117909103	117909103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaaggccattccctggCgtggagttcataccagattg	9	11	11	10	1	1	2	1	1	0	1	2	3	2	3	3	3	1	1	3	3	2	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:117909103C>T	ENST00000425217.1	-	18	2572	c.2518G>A	c.(2518-2520)Gcc>Acc	p.A840T	KSR2_ENST00000339824.5_Missense_Mutation_p.A869T|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	869	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATTCCCTGGCGTGGAGTTCA	0.502													17	32					0	0	0	0	T	117909103	C	T	117909103	3	4	19	1	0	0	0	0	1	0	0	0	8635	768	27	1	259	1	KSR2	12	117909103	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	6979187	117909103	15942792	125	4254											
C12orf43	64897	broad.mit.edu	37	chr12	121442193	121442193	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttcttctttgcctccttCtccactgttccagggctgtg	2	18	7	14	0	3	0	0	0	3	0	6	0	5	0	4	1	1	2	4	1	0	6			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:121442193C>T	ENST00000445832.3	-	6	564	c.462G>A	c.(460-462)gaG>gaA	p.E154E	C12orf43_ENST00000537817.1_Silent_p.E185E|C12orf43_ENST00000288757.3_Silent_p.E184E|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000366211.2_Silent_p.E143E|C12orf43_ENST00000539736.1_Silent_p.E174E			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	184										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGCCTCCTTCTCCACTGTTC	0.602													39	138					0	0	0	0	T	121442193	C	T	121442193	2	4	19	1	0	0	0	0	0	0	0	1	1701	912	32	2		2	C12orf43	12	121442193	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08	3533090	121442193	12409702	126	4255											
UBC	7316	broad.mit.edu	37	chr12	125397265	125397265	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccatcttccagctgtttTccggcaaagatcaacctctg	9	11	7	14	2	3	1	1	0	2	1	5	2	5	1	4	1	2	3	4	1	2	3	rs140629410		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:125397265T>C	ENST00000536769.1	-	1	2629	c.1053A>G	c.(1051-1053)ggA>ggG	p.G351G	UBC_ENST00000546120.1_Silent_p.G275G|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.G351G			P0CG48	UBC_HUMAN	ubiquitin C	351	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCAGCTGTTTTCCGGCAAAGA	0.527													31	180					0	0	0	0	C	125397265	T	C	125397265	2	2	19	1	0	0	0	0	0	0	0	1	16938	1770	62	5		5	UBC	12	125397265	Silent	SNP	T	TCGA-BA-6872-01A-11D-1870-08	3955072	125397265	8454630	127	4256											
FAM155A	728215	broad.mit.edu	37	chr13	108518304	108518304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatccgacaagttccagagcGgagtgggatgcttgctcctc	9	9	12	11	2	0	1	0	0	0	1	4	4	3	3	3	2	3	3	3	2	2	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr13:108518304G>A	ENST00000375915.2	-	1	779	c.641C>T	c.(640-642)cCg>cTg	p.P214L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	214						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTTCCAGAGCGGAGTGGGATG	0.577													16	106					0	0	0	0	A	108518304	G	A	108518304	3	1	19	1	0	0	0	0	1	0	0	0	5506	1116	39	1	747	1	FAM155A	13	108518304	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08		108518304	6651574	128	4257											
RHOJ	57381	broad.mit.edu	37	chr14	63747788	63747788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcttaccacaatgtccagGaggaatgggtccccgagctc	9	8	10	14	1	1	0	0	0	1	0	4	3	3	2	5	3	2	1	5	3	3	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:63747788G>A	ENST00000316754.3	+	3	799	c.337G>A	c.(337-339)Gag>Aag	p.E113K	RHOJ_ENST00000555125.1_Missense_Mutation_p.E113K	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	113					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CAATGTCCAGGAGGAATGGGT	0.557													25	67					0	0	0	0	A	63747788	G	A	63747788	3	1	19	1	0	0	0	0	1	0	0	0	13424	1175	41	2	347	2	RHOJ	14	63747788	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08		63747788	43601752	129	4258											
RHOJ	57381	broad.mit.edu	37	chr14	63747813	63747813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggtccccgagctcaaggActgcatgcctcacgtgcctt	7	9	11	14	2	2	0	2	0	0	0	3	2	3	1	4	2	4	2	4	2	1	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:63747813A>G	ENST00000316754.3	+	3	824	c.362A>G	c.(361-363)gAc>gGc	p.D121G	RHOJ_ENST00000555125.1_Missense_Mutation_p.D121G	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	121					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GAGCTCAAGGACTGCATGCCT	0.537													24	55					0	0	0	0	G	63747813	A	G	63747813	3	3	19	1	0	0	0	0	1	0	0	0	13424	275	10	5	372	5	RHOJ	14	63747813	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	25	63747813	43601727	130	4259											
SYNE2	23224	broad.mit.edu	37	chr14	64532170	64532170	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccttggtgtcaaatcttatAtcaaccaaagaagagttaat	15	12	7	7	0	3	2	2	0	1	2	3	2	3	2	2	1	1	1	2	1	7	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:64532170A>G	ENST00000358025.3	+	51	10463	c.10233A>G	c.(10231-10233)atA>atG	p.I3411M	SYNE2_ENST00000555002.1_Missense_Mutation_p.I45M|SYNE2_ENST00000554584.1_Missense_Mutation_p.I3444M|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.I3411M	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3411					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAAATCTTATATCAACCAAAG	0.353													24	22					0	0	0	0	G	64532170	A	G	64532170	3	3	19	1	0	0	0	0	1	0	0	0	15537	439	16	5	10431	5	SYNE2	14	64532170	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	784357	64532170	42817370	131	4260											
ACOT4	122970	broad.mit.edu	37	chr14	74061758	74061758	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcttttcttccaggtaaaAggcccaggcattgggctttt	7	15	9	10	0	2	0	0	0	2	0	3	0	3	0	2	4	0	3	2	4	2	8			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:74061758A>G	ENST00000326303.4	+	3	920	c.666A>G	c.(664-666)aaA>aaG	p.K222K		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	222					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TCCAGGTAAAAGGCCCAGGCA	0.478													3	181					0	0	0	0	G	74061758	A	G	74061758	2	3	19	1	0	0	0	0	0	0	0	1	153	69	3	5		5	ACOT4	14	74061758	Silent	SNP	A	TCGA-BA-6872-01A-11D-1870-08	9529588	74061758	33287782	132	4261											
MAP1A	4130	broad.mit.edu	37	chr15	43815715	43815716	+	Frame_Shift_Ins	INS	-	-	A																															aaaagctgagggtttttaccINSaaaaacatatgcaggaaccc																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:43815715_43815716insA	ENST00000382031.1	+	5	2789_2790	c.2758_2759insA	c.(2758-2760)aaafs	p.K920fs	MAP1A_ENST00000300231.5_Frame_Shift_Ins_p.K682fs|MAP1A_ENST00000399453.1_Frame_Shift_Ins_p.K682fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	682						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGTTTTTACCAAAAACATATG	0.515													7	26	---	---	---	---					A	43815716	-	A	43815715	7	5	19	1	0	1	1	0	0	0	0	0	9296	595	21	0	2046	0	MAP1A	15	43815715	Frame_Shift_Ins	INS	-	TCGA-BA-6872-01A-11D-1870-08		43815715	58715677	133	4262											
CASC4	113201	broad.mit.edu	37	chr15	44671915	44671915	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagcctcctatttcagtttCtcaacatgaaagtcatcaag	13	12	6	10	0	4	1	4	1	1	0	6	2	5	1	2	0	2	1	2	0	5	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:44671915C>G	ENST00000299957.6	+	7	1129	c.830C>G	c.(829-831)tCt>tGt	p.S277C	CASC4_ENST00000345795.2_Missense_Mutation_p.S277C|CASC4_ENST00000360824.3_3'UTR	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	277						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ATTTCAGTTTCTCAACATGAA	0.333													67	76					0	0	0	0	G	44671915	C	G	44671915	3	3	19	1	0	0	0	0	1	0	0	0	2687	913	32	2	856	2	CASC4	15	44671915	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	856200	44671915	57859477	134	4263											
UNC13C	440279	broad.mit.edu	37	chr15	54305645	54305645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttaaaactgggagctttacGaaaactgagaaaatggaaaa	19	8	9	5	1	0	1	0	1	0	1	0	5	0	3	0	2	4	1	0	2	9	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:54305645G>A	ENST00000545554.1	+	1	545	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	UNC13C_ENST00000537900.1_Missense_Mutation_p.R182Q|UNC13C_ENST00000260323.11_Missense_Mutation_p.R182Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	182					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R182Q(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAGCTTTACGAAAACTGAGA	0.458													48	82					0	0	0	0	A	54305645	G	A	54305645	3	1	19	1	0	0	0	0	1	0	0	0	17082	1058	37	1	547	1	UNC13C	15	54305645	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	9633730	54305645	48225747	135	4264											
VPS13C	54832	broad.mit.edu	37	chr15	62165518	62165518	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgactcaactcttctcttCttttttgctgatattccttg	5	20	5	11	1	4	1	1	1	3	0	7	2	5	1	1	0	2	1	1	0	2	8			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:62165518C>G	ENST00000261517.5	-	78	10578	c.10505G>C	c.(10504-10506)aGa>aCa	p.R3502T	VPS13C_ENST00000395896.4_Missense_Mutation_p.R3502T|VPS13C_ENST00000249837.3_Missense_Mutation_p.R3459T|VPS13C_ENST00000395898.3_Missense_Mutation_p.R3459T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3502					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTCTTCTCTTCTTTTTTGCTG	0.453													46	154					0	0	0	0	G	62165518	C	G	62165518	3	3	19	1	0	0	0	0	1	0	0	0	17287	913	32	2	816	2	VPS13C	15	62165518	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	7859873	62165518	40365874	136	4265											
DENND4A	10260	broad.mit.edu	37	chr15	65968902	65968902	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatggcagacatcttcaTctgttaaagaggtagattca	13	12	8	8	0	5	3	3	0	2	3	5	3	5	3	0	2	0	3	0	2	3	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:65968902T>C	ENST00000443035.3	-	24	4462	c.4247A>G	c.(4246-4248)gAt>gGt	p.D1416G	DENND4A_ENST00000431932.2_Missense_Mutation_p.D1373G	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GACATCTTCATCTGTTAAAGA	0.423													7	31					0	0	0	0	C	65968902	T	C	65968902	3	2	19	1	0	0	0	0	1	0	0	0	4470	1435	50	5	1513	5	DENND4A	15	65968902	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	3803384	65968902	36562490	137	4266											
STARD5	80765	broad.mit.edu	37	chr15	81614833	81614833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagctggcttcacacaGtcccacacctcctctagtgt	9	9	6	17	0	2	0	1	0	1	0	4	0	4	0	4	1	2	2	4	1	2	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:81614833G>A	ENST00000302824.6	-	3	223	c.198C>T	c.(196-198)gaC>gaT	p.D66D	STARD5_ENST00000559913.1_5'UTR	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	66	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						GCTTCACACAGTCCCACACCT	0.473													19	75					0	0	0	0	A	81614833	G	A	81614833	2	1	19	1	0	0	0	0	0	0	0	1	15350	1020	36	4		4	STARD5	15	81614833	Silent	SNP	G	TCGA-BA-6872-01A-11D-1870-08	15645931	81614833	20916559	138	4267											
IQGAP1	8826	broad.mit.edu	37	chr15	90934059	90934060	+	Frame_Shift_Ins	INS	-	-	A																															gatggatgaaaggagacgtcINSagaacgtggcttatgagtac																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:90934059_90934060insA	ENST00000268182.5	+	2	233_234	c.109_110insA	c.(109-111)gaafs	p.E37fs	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	37					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGGAGACGTCAGAACGTGGCT	0.426													18	65	---	---	---	---					A	90934060	-	A	90934059	7	5	19	1	0	1	1	0	0	0	0	0	7867	827	29	0	115	0	IQGAP1	15	90934059	Frame_Shift_Ins	INS	-	TCGA-BA-6872-01A-11D-1870-08	9319226	90934059	11597333	139	4268											
ACSM5	54988	broad.mit.edu	37	chr16	20442541	20442541	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgatgatttccttaccaGattgtggatgatgagggcaa	10	13	12	6	0	0	5	0	4	0	1	1	6	1	6	2	2	1	1	2	2	2	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:20442541G>A	ENST00000331849.4	+	10	1353		c.e10-1			NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5						fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TTCCTTACCAGATTGTGGATG	0.552													23	102					0	0	0	0	A	20442541	G	A	20442541	5	1	19	1	0	0	0	0	0	0	1	0	187	956	33	2	1240	2	ACSM5	16	20442541	Splice_Site	SNP	G	TCGA-BA-6872-01A-11D-1870-08		20442541	69912212	140	4269											
PALB2	79728	broad.mit.edu	37	chr16	23641719	23641719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatggagccgtgaaagcatCatcatccaaggataaataag	18	7	9	7	1	2	1	2	1	0	0	3	3	3	3	2	2	2	1	2	2	6	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:23641719C>T	ENST00000261584.4	-	5	1908	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	586					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GTGAAAGCATCATCATCCAAG	0.368			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					7	24					0	0	0	0	T	23641719	C	T	23641719	3	4	19	1	0	0	0	0	1	0	0	0	11477	826	29	2	1840	2	PALB2	16	23641719	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	3199178	23641719	66713034	141	4270											
ZNF423	23090	broad.mit.edu	37	chr16	49764716	49764716	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcccggtggtccgtcagGtctgccagagactcgaagtc	6	8	15	12	3	2	1	1	0	1	1	5	3	3	1	3	4	1	0	3	4	1	0			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:49764716G>C	ENST00000561648.1	-	3	296	c.243C>G	c.(241-243)gaC>gaG	p.D81E	ZNF423_ENST00000562520.1_Missense_Mutation_p.D21E|ZNF423_ENST00000262383.2_Missense_Mutation_p.D81E|ZNF423_ENST00000562871.1_Missense_Mutation_p.D21E|ZNF423_ENST00000563137.2_Missense_Mutation_p.D21E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	81					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTCCGTCAGGTCTGCCAGAG	0.517													5	105					0	0	0	0	C	49764716	G	C	49764716	3	2	19	1	0	0	0	0	1	0	0	0	17993	1252	44	4	3635	4	ZNF423	16	49764716	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	26122997	49764716	40590037	142	4271											
CLEC18C	283971	broad.mit.edu	37	chr16	70211272	70211272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatgcagctgctgcccgcGggcttggcgtcctttgttga	5	11	13	12	3	0	1	0	1	0	0	1	1	1	1	2	2	5	5	2	2	1	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:70211272G>A	ENST00000569347.2	+	3	599	c.345G>A	c.(343-345)gcG>gcA	p.A115A	CLEC18C_ENST00000561612.1_Intron|CLEC18C_ENST00000536907.2_Silent_p.A115A|CLEC18C_ENST00000541793.2_Silent_p.A115A|CLEC18C_ENST00000314151.8_Silent_p.A115A	NM_173619.2	NP_775890.2			C-type lectin domain family 18, member C											endometrium(3)|large_intestine(6)|lung(1)	10						TGCTGCCCGCGGGCTTGGCGT	0.662													4	31					0	0	0	0	A	70211272	G	A	70211272	2	1	19	1	0	0	0	0	0	0	0	1	3534	1103	39	1		1	CLEC18C	16	70211272	Silent	SNP	G	TCGA-BA-6872-01A-11D-1870-08	20446556	70211272	20143481	143	4272											
PLCG2	5336	broad.mit.edu	37	chr16	81957192	81957192	+	Frame_Shift_Del	DEL	G	G	-																															acaatgtctccaaggagcccGggggctggtaaggctgagtg																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:81957192delG	ENST00000359376.3	+	22	2624	c.2410delG	c.(2410-2412)ggfs	p.G805fs		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	805	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAAGGAGCCCGGGGGCTGGTA	0.582													14	30	---	---	---	---					-	81957192	G	-	81957192	7	5	19	1	0	1	0	1	0	0	0	0	12108	1116	39	0	2492	0	PLCG2	16	81957192	Frame_Shift_Del	DEL	G	TCGA-BA-6872-01A-11D-1870-08	11745920	81957192	8397561	144	4273											
ALOX12	239	broad.mit.edu	37	chr17	6900305	6900305	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcccgtgctaccgctGggtgcagggcgaggacatcc	5	7	15	14	3	0	0	0	0	0	0	2	2	2	1	4	4	3	3	4	4	1	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:6900305G>A	ENST00000251535.6	+	2	349	c.296G>A	c.(295-297)tGg>tAg	p.W99*	AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	99	PLAT.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TGCTACCGCTGGGTGCAGGGC	0.706													5	3					0	0	0	0	A	6900305	G	A	6900305	4	1	19	1	0	0	0	0	0	1	0	0	536	1357	47	4	302	4	ALOX12	17	6900305	Nonsense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08		6900305	74294905	145	4274											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			32	25					0	0	0	0	T	7578406	C	T	7578406	3	4	19	1	0	0	0	0	1	0	0	0	16476	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	678101	7578406	73616804	146	4275											
MYH8	4626	broad.mit.edu	37	chr17	10302117	10302117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctagttgatgtttcagctCttcaatctgctgagtagatg	8	16	9	8	0	5	3	2	2	3	1	5	3	5	3	0	0	2	5	0	0	3	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:10302117C>T	ENST00000403437.2	-	29	4043	c.3949G>A	c.(3949-3951)Gag>Aag	p.E1317K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1317					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTTTCAGCTCTTCAATCTGC	0.388									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				6	55					0	0	0	0	T	10302117	C	T	10302117	3	4	19	1	0	0	0	0	1	0	0	0	10111	922	32	2	1912	2	MYH8	17	10302117	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	2723711	10302117	70893093	147	4276											
SUPT6H	6830	broad.mit.edu	37	chr17	27017211	27017211	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacagaggagatcttcaatAtgttaaccaaagaaacacca	19	7	6	9	0	2	3	1	0	1	3	2	4	2	3	2	1	2	1	2	1	5	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:27017211A>G	ENST00000314616.6	+	26	3737	c.3454A>G	c.(3454-3456)Atg>Gtg	p.M1152V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.M1152V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1152					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATCTTCAATATGTTAACCAA	0.458													26	57					0	0	0	0	G	27017211	A	G	27017211	3	3	19	1	0	0	0	0	1	0	0	0	15490	449	16	5	3552	5	SUPT6H	17	27017211	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	16715094	27017211	54177999	148	4277											
ACACA	31	broad.mit.edu	37	chr17	35564685	35564685	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagctacatgggtcatgccaTagtggttgaggttggaggag	9	11	16	5	0	1	1	1	1	0	0	1	3	1	3	1	5	3	3	1	5	3	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:35564685T>C	ENST00000353139.5	-	31	4218	c.3737A>G	c.(3736-3738)tAt>tGt	p.Y1246C	ACACA_ENST00000394406.2_Missense_Mutation_p.Y1209C|ACACA_ENST00000360679.3_Missense_Mutation_p.Y1151C|ACACA_ENST00000335166.5_Missense_Mutation_p.Y1131C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1209					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGTCATGCCATAGTGGTTGAG	0.473													21	84					0	0	0	0	C	35564685	T	C	35564685	3	2	19	1	0	0	0	0	1	0	0	0	106	1406	49	5	3518	5	ACACA	17	35564685	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	8547474	35564685	45630525	149	4278											
KRT25	147183	broad.mit.edu	37	chr17	38906826	38906826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagttgctctcggtctctgtCaaggagcactccagggagtg	7	11	13	10	1	3	0	1	0	2	0	6	2	4	2	1	3	2	3	1	3	2	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:38906826C>G	ENST00000312150.4	-	6	1041	c.981G>C	c.(979-981)ttG>ttC	p.L327F		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	327	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CGGTCTCTGTCAAGGAGCACT	0.522													18	216					0	0	0	0	G	38906826	C	G	38906826	3	3	19	1	0	0	0	0	1	0	0	0	8514	825	29	2	383	2	KRT25	17	38906826	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	3342141	38906826	42288384	150	4279											
JUP	3728	broad.mit.edu	37	chr17	39912040	39912040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtacgggggcctgaggcCgtcgctgtaggtgtcgatgg	4	8	21	8	4	0	1	0	1	0	0	2	2	0	1	2	7	1	3	2	7	2	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:39912040C>T	ENST00000393931.3	-	14	2312	c.2194G>A	c.(2194-2196)Ggc>Agc	p.G732S	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.G732S|JUP_ENST00000393930.1_Missense_Mutation_p.G732S	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	732					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGCCTGAGGCCGTCGCTGTAG	0.632													12	51					0	0	0	0	T	39912040	C	T	39912040	3	4	19	1	0	0	0	0	1	0	0	0	8025	652	23	1	47	1	JUP	17	39912040	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	1005214	39912040	41283170	151	4280											
BRCA1	672	broad.mit.edu	37	chr17	41244991	41244991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attctgcaaatactgagcatCaagttcactttcttccattt	11	16	4	10	0	4	1	2	1	2	0	5	1	5	1	1	0	3	3	1	0	3	6			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:41244991C>T	ENST00000309486.4	-	9	2696	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.D806N|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.D853N|BRCA1_ENST00000354071.3_Missense_Mutation_p.D853N|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.D853N|BRCA1_ENST00000471181.2_Missense_Mutation_p.D853N|BRCA1_ENST00000468300.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	853					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TACTGAGCATCAAGTTCACTT	0.393			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			50	133					0	0	0	0	T	41244991	C	T	41244991	3	4	19	1	0	0	0	0	1	0	0	0	1506	826	29	2	3160	2	BRCA1	17	41244991	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	1332951	41244991	39950219	152	4281											
HEXIM1	10614	broad.mit.edu	37	chr17	43226740	43226743	+	Frame_Shift_Del	DEL	GGAG	GGAG	-																															ttgggtggccgtccggggccGgagggggaagggagcctgga																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:43226740_43226743delGGAG	ENST00000332499.2	+	1	2057_2060	c.183_186delGGAG	c.(181-186)ccfs	p.PE61fs		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	61					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTCCGGGGCCGGAGGGGGAAGGGA	0.676											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	49	---	---	---	---					-	43226743	GGAG	-	43226740	7	5	19	1	0	1	0	1	0	0	0	0	7126	1103	39	0	185	0	HEXIM1	17	43226740	Frame_Shift_Del	DEL	GGAG	TCGA-BA-6872-01A-11D-1870-08	1981749	43226740	37968470	153	4282											
LUC7L3	51747	broad.mit.edu	37	chr17	48821155	48821155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagaagagagagaactgcTaaggtccacaacgtcggtga	17	5	12	7	2	0	4	0	1	0	3	2	6	1	4	1	2	3	1	1	2	6	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:48821155T>C	ENST00000505658.1	+	6	704	c.515T>C	c.(514-516)cTa>cCa	p.L172P	LUC7L3_ENST00000544170.1_Missense_Mutation_p.L96P|LUC7L3_ENST00000393227.2_Missense_Mutation_p.L172P|LUC7L3_ENST00000240304.1_Missense_Mutation_p.L172P			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	172					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGAGAACTGCTAAGGTCCACA	0.363													9	48					0	0	0	0	C	48821155	T	C	48821155	3	2	19	1	0	0	0	0	1	0	0	0	9148	1522	53	5	537	5	LUC7L3	17	48821155	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	5594415	48821155	32374055	154	4283											
SMURF2	64750	broad.mit.edu	37	chr17	62579622	62579622	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttcttgttatatggtttaGatactggattcttccagagg	9	17	10	5	0	2	2	0	0	2	2	3	3	3	3	1	3	1	3	1	3	4	9			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:62579622G>C	ENST00000262435.9	-	7	713	c.526C>G	c.(526-528)Cta>Gta	p.L176V	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	176	WW 1.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ATATGGTTTAGATACTGGATT	0.413													4	85					0	0	0	0	C	62579622	G	C	62579622	3	2	19	1	0	0	0	0	1	0	0	0	14908	933	33	2	1772	2	SMURF2	17	62579622	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	13758467	62579622	18615588	155	4284											
CD300E	342510	broad.mit.edu	37	chr17	72619723	72619723	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccacagccccactcacctGagaggcagagaaggagtaga	14	3	12	12	0	1	3	1	1	0	3	1	6	1	4	4	2	2	2	4	2	2	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:72619723G>C	ENST00000392619.1	-	1	154	c.119C>G	c.(118-120)tCa>tGa	p.S40*	CD300E_ENST00000328630.3_Nonsense_Mutation_p.S13*|CD300E_ENST00000426295.2_Nonsense_Mutation_p.S54*	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	13	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCACTCACCTGAGAGGCAGAG	0.547													4	152					0	0	0	0	C	72619723	G	C	72619723	4	2	19	1	0	0	0	0	0	1	0	0	3027	1294	45	2	595	2	CD300E	17	72619723	Nonsense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	10040101	72619723	8575487	156	4285											
FHOD3	80206	broad.mit.edu	37	chr18	33935606	33935606	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcttccaggatgacgcCgggtaagagcaactgttcac	11	7	13	10	2	1	2	1	1	0	1	2	4	2	3	2	3	2	4	2	3	3	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr18:33935606C>T	ENST00000257209.4	+	2	392	c.270C>T	c.(268-270)gcC>gcT	p.A90A	FHOD3_ENST00000445677.1_Silent_p.A90A|FHOD3_ENST00000359247.4_Silent_p.A90A|FHOD3_ENST00000590592.1_Silent_p.A90A	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	90	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGGATGACGCCGGGTAAGAGC	0.542													15	13					0	0	0	0	T	33935606	C	T	33935606	2	4	19	1	0	0	0	0	0	0	0	1	5928	639	23	1		1	FHOD3	18	33935606	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08		33935606	44141642	157	4286											
SMAD2	4087	broad.mit.edu	37	chr18	45371798	45371798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcttcaaaaccctgattaAcagactgagccagaagagca	15	6	9	11	1	1	5	1	2	0	3	1	5	1	5	2	1	4	2	2	1	4	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr18:45371798A>G	ENST00000402690.2	-	10	1587	c.1193T>C	c.(1192-1194)gTt>gCt	p.V398A	SMAD2_ENST00000586040.1_Missense_Mutation_p.V368A|SMAD2_ENST00000262160.6_Missense_Mutation_p.V398A|SMAD2_ENST00000591214.1_Missense_Mutation_p.V368A|SMAD2_ENST00000356825.4_Missense_Mutation_p.V368A	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	398	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						ACCCTGATTAACAGACTGAGC	0.383													49	42					0	0	0	0	G	45371798	A	G	45371798	3	3	19	1	0	0	0	0	1	0	0	0	14846	43	2	5	218	5	SMAD2	18	45371798	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	11436192	45371798	32705450	158	4287											
AP3D1	8943	broad.mit.edu	37	chr19	2121203	2121203	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtagttggactggctgcaGatgtcaatgatcttggtgag	8	13	15	5	0	2	3	1	2	1	1	2	4	2	4	0	4	1	4	0	4	2	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:2121203G>A	ENST00000355272.6	-	13	1415	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	AP3D1_ENST00000356926.4_Silent_p.I312I|AP3D1_ENST00000345016.5_Silent_p.I403I|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Silent_p.I234I	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	403					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		ACTGGCTGCAGATGTCAATGA	0.587													16	63					0	0	0	0	A	2121203	G	A	2121203	2	1	19	1	0	0	0	0	0	0	0	1	747	932	33	2		2	AP3D1	19	2121203	Silent	SNP	G	TCGA-BA-6872-01A-11D-1870-08		2121203	57007780	159	4288											
DOT1L	84444	broad.mit.edu	37	chr19	2210666	2210666	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggagcagccaccgtgaagaAgccgtctccctccaaagccc	10	4	11	16	2	1	2	0	1	1	1	3	3	2	3	6	1	4	1	6	1	3	0			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:2210666A>T	ENST00000398665.3	+	14	1199	c.1163A>T	c.(1162-1164)aAg>aTg	p.K388M		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	388						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		ACCGTGAAGAAGCCGTCTCCC	0.607													22	131					0	0	0	0	T	2210666	A	T	2210666	3	4	19	1	0	0	0	0	1	0	0	0	4745	72	3	5	1217	5	DOT1L	19	2210666	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	89463	2210666	56918317	160	4289											
DIRAS1	148252	broad.mit.edu	37	chr19	2717766	2717766	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcccacgccgcccgccccGaacaccaccacgcggtaatc	8	4	8	21	6	0	0	0	0	0	0	1	1	0	0	7	1	2	1	7	1	2	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:2717766G>A	ENST00000323469.4	-	2	222	c.39C>T	c.(37-39)ttC>ttT	p.F13F	AC006538.4_ENST00000586572.1_Intron|DIRAS1_ENST00000585334.1_Silent_p.F13F	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	13					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		CGCCCGCCCCGAACACCACCA	0.692													9	30					0	0	0	0	A	2717766	G	A	2717766	2	1	19	1	0	0	0	0	0	0	0	1	4567	1049	37	1		1	DIRAS1	19	2717766	Silent	SNP	G	TCGA-BA-6872-01A-11D-1870-08	507100	2717766	56411217	161	4290											
SLC44A2	57153	broad.mit.edu	37	chr19	10745462	10745462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctacatggagtactcccGactgcgtggtgaggccggct	6	9	14	12	3	0	1	0	1	0	0	1	3	1	2	2	4	4	3	2	4	2	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:10745462G>A	ENST00000586078.1	+	11	963	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	SLC44A2_ENST00000407327.4_Missense_Mutation_p.R283Q|SLC44A2_ENST00000335757.5_Missense_Mutation_p.R285Q	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	285					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GAGTACTCCCGACTGCGTGGT	0.557													4	97					0	0	0	0	A	10745462	G	A	10745462	3	1	19	1	0	0	0	0	1	0	0	0	14724	1058	37	1	931	1	SLC44A2	19	10745462	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	8027696	10745462	48383521	162	4291											
EMR3	84658	broad.mit.edu	37	chr19	14736338	14736338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtcaggacccatcttgctgGaaagtgtgtatgtctcagac	10	11	11	9	0	3	1	2	0	2	1	4	3	3	3	1	2	1	2	1	2	2	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:14736338G>A	ENST00000253673.5	-	15	1986	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	EMR3_ENST00000599900.1_Missense_Mutation_p.S414F|EMR3_ENST00000443157.2_Missense_Mutation_p.S503F|EMR3_ENST00000344373.4_Missense_Mutation_p.S577F	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	629					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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						CATCTTGCTGGAAAGTGTGTA	0.393													17	95					0	0	0	0	A	14736338	G	A	14736338	3	1	19	1	0	0	0	0	1	0	0	0	5144	1174	41	2	80	2	EMR3	19	14736338	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	3990876	14736338	44392645	163	4292											
ZNF429	353088	broad.mit.edu	37	chr19	21720747	21720747	+	Missense_Mutation	SNP	C	C	A																															agaatgtgccaaagcttttaCccggtcttcaagacttactc																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:21720747C>A	ENST00000358491.4	+	4	2100	c.1892C>A	c.(1891-1893)aCc>aAc	p.T631N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAAGCTTTTACCCGGTCTTCA	0.433													4	40					0.00198382	0.00212365	1	0	A	21720747	C	A	21720747	3	1	19	1	0	0	0	0	1	0	0	0	17997	507	18	4	1906	4	ZNF429	19	21720747	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	6984409	21720747	37408236	164	4293	45	2									
ZNF429	353088	broad.mit.edu	37	chr19	21720754	21720754	+	Silent	SNP	T	T	C																															gccaaagcttttacccggtcTtcaagacttactcaacataa																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:21720754T>C	ENST00000358491.4	+	4	2107	c.1899T>C	c.(1897-1899)tcT>tcC	p.S633S	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTACCCGGTCTTCAAGACTTA	0.433													4	36					0	0	0	0	C	21720754	T	C	21720754	2	2	19	1	0	0	0	0	0	0	0	1	17997	1596	56	5		5	ZNF429	19	21720754	Silent	SNP	T	TCGA-BA-6872-01A-11D-1870-08	7	21720754	37408229	165	4294	45	2									
C19orf40	91442	broad.mit.edu	37	chr19	33464412	33464412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcattctttatgtcaccGaagctgatttggtggcagga	8	13	12	8	1	2	1	1	1	1	0	2	3	2	2	1	3	2	4	1	3	2	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:33464412G>A	ENST00000588258.1	+	3	297	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	C19orf40_ENST00000590281.1_Missense_Mutation_p.E63K|C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000589646.1_5'UTR	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	63					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TTATGTCACCGAAGCTGATTT	0.438								Direct reversal of damage					19	106					0	0	0	0	A	33464412	G	A	33464412	3	1	19	1	0	0	0	0	1	0	0	0	1941	1059	37	1	193	1	C19orf40	19	33464412	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	11743658	33464412	25664571	166	4295											
ATP4A	495	broad.mit.edu	37	chr19	36051332	36051332	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctctcgtgcgtgcactcGggtgagcgggtctgtggctc	2	10	18	11	4	2	1	0	1	2	0	5	1	2	1	0	4	3	3	0	4	0	0			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:36051332G>A	ENST00000262623.3	-	6	748	c.720C>T	c.(718-720)ccC>ccT	p.P240P		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	240					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCGTGCACTCGGGTGAGCGGG	0.657													15	81					0	0	0	0	A	36051332	G	A	36051332	2	1	19	1	0	0	0	0	0	0	0	1	1149	1103	39	1		1	ATP4A	19	36051332	Silent	SNP	G	TCGA-BA-6872-01A-11D-1870-08	2586920	36051332	23077651	167	4296											
NUP62	23636	broad.mit.edu	37	chr19	50412137	50412137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccaggtggagcggtcaCggcagctgctgtattgctgg	6	8	18	9	2	1	0	1	0	0	0	1	1	1	1	1	6	4	5	1	6	1	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:50412137C>T	ENST00000596217.1	-	2	2815	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	NUP62_ENST00000413454.1_Missense_Mutation_p.V310M|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.V310M|NUP62_ENST00000422090.2_Missense_Mutation_p.V310M|NUP62_ENST00000597723.1_Intron|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.V310M			P37198	NUP62_HUMAN	nucleoporin 62kDa	310	Ala-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGAGCGGTCACGGCAGCTGCT	0.652													9	49					0	0	0	0	T	50412137	C	T	50412137	3	4	19	1	0	0	0	0	1	0	0	0	10839	536	19	1	644	1	NUP62	19	50412137	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	14360805	50412137	8716846	168	4297											
ZNF320	162967	broad.mit.edu	37	chr19	53384531	53384539	+	In_Frame_Del	DEL	GCGAAGGTC	GCGAAGGTC	-																															ttacgaggactgaatttcgaGcgaaggtcttgccacactca																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:53384531_53384539delGCGAAGGTC	ENST00000595635.1	-	8	1341_1349	c.840_848delGACCTTCGC	c.(838-849)aat>aa	p.KTFA280del	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_In_Frame_Del_p.KTFA280del|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TGAATTTCGAGCGAAGGTCTTGCCACACT	0.416													17	89	---	---	---	---					-	53384539	GCGAAGGTC	-	53384531	7	5	19	1	0	1	0	1	0	0	0	0	17934	971	34	0	685	0	ZNF320	19	53384531	In_Frame_Del	DEL	GCGAAGGTC	TCGA-BA-6872-01A-11D-1870-08	2972394	53384531	5744452	169	4298											
ZNF347	84671	broad.mit.edu	37	chr19	53652011	53652011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctccaaagtgaaaggcTccttcccttgctccaacata	10	10	7	14	0	1	1	0	1	1	0	5	1	4	1	4	2	2	3	4	2	4	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:53652011T>C	ENST00000452676.2	-	4	623	c.197A>G	c.(196-198)gAg>gGg	p.E66G	ZNF347_ENST00000601469.2_Missense_Mutation_p.E66G|ZNF347_ENST00000601804.1_Missense_Mutation_p.E7G|ZNF347_ENST00000334197.7_Missense_Mutation_p.E65G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGTGAAAGGCTCCTTCCCTTG	0.428													34	156					0	0	0	0	C	53652011	T	C	53652011	3	2	19	1	0	0	0	0	1	0	0	0	17956	1551	54	5	2333	5	ZNF347	19	53652011	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	267480	53652011	5476972	170	4299											
MBOAT7	79143	broad.mit.edu	37	chr19	54677830	54677830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacctaaagccagccccaGccccagggctgccagggcca	9	2	10	20	0	0	0	0	0	0	0	0	0	0	0	9	2	4	1	9	2	2	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:54677830G>T	ENST00000245615.1	-	8	1807	c.1327C>A	c.(1327-1329)Ctg>Atg	p.L443M	MBOAT7_ENST00000431666.2_Missense_Mutation_p.L370M|MBOAT7_ENST00000338624.6_Missense_Mutation_p.L370M	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	443					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCAGCCCCAGCCCCAGGGCT	0.652													8	33					5.18039e-06	5.82794e-06	1	0	T	54677830	G	T	54677830	3	4	19	1	0	0	0	0	1	0	0	0	9427	962	34	4	95	4	MBOAT7	19	54677830	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	1025819	54677830	4451153	171	4300											
PEG3	5178	broad.mit.edu	37	chr19	57327434	57327434	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttactgggccctgctacActgtgacttttctgagcttc	5	15	10	11	0	1	2	0	2	1	0	2	2	1	2	1	2	4	3	1	2	2	6			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:57327434A>C	ENST00000326441.9	-	10	2739	c.2376T>G	c.(2374-2376)agT>agG	p.S792R	PEG3_ENST00000593695.1_Missense_Mutation_p.S666R|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S668R|PEG3_ENST00000423103.2_Missense_Mutation_p.S792R|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	792					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCCTGCTACACTGTGACTTT	0.453													76	88					0	0	0	0	C	57327434	A	C	57327434	3	2	19	1	0	0	0	0	1	0	0	0	11791	156	6	5	2394	5	PEG3	19	57327434	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08	2649604	57327434	1801549	172	4301											
ZBTB45	84878	broad.mit.edu	37	chr19	59028615	59028615	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgcaggtgcgagtggCgggggcacaggggtgggcag	6	4	23	8	3	0	0	0	0	0	0	0	1	0	0	0	7	3	4	0	7	0	0			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:59028615C>T	ENST00000594051.1	-	2	906	c.426G>A	c.(424-426)ccG>ccA	p.P142P	ZBTB45_ENST00000600990.1_Silent_p.P142P|ZBTB45_ENST00000354590.3_Silent_p.P142P			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	142	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTGCGAGTGGCGGGGGCACAG	0.706											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	13					0	0	0	0	T	59028615	C	T	59028615	2	4	19	1	0	0	0	0	0	0	0	1	17641	755	27	1		1	ZBTB45	19	59028615	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08	1701181	59028615	100368	173	4302											
PAK7	57144	broad.mit.edu	37	chr20	9561038	9561038	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttcactgtacgccaggctCtccttggagcacccgctggt	5	11	10	15	2	2	0	1	0	1	0	3	1	2	1	3	3	2	4	3	3	1	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:9561038C>G	ENST00000378429.3	-	5	1290	c.744G>C	c.(742-744)gaG>gaC	p.E248D	PAK7_ENST00000378423.1_Missense_Mutation_p.E248D|PAK7_ENST00000353224.5_Missense_Mutation_p.E248D	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	248	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACGCCAGGCTCTCCTTGGAGC	0.537													7	68					0	0	0	0	G	9561038	C	G	9561038	3	3	19	1	0	0	0	0	1	0	0	0	11476	912	32	2	1443	2	PAK7	20	9561038	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08		9561038	53464482	174	4303											
RBL1	5933	broad.mit.edu	37	chr20	35717460	35717460	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgataccctttccaacCgtgggaataatgcttttgcg	9	13	8	11	2	0	1	0	1	0	0	2	2	2	2	4	1	4	1	4	1	4	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:35717460C>T	ENST00000373664.3	-	2	288	c.222G>A	c.(220-222)acG>acA	p.T74T	RBL1_ENST00000344359.3_Silent_p.T74T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	74					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CCTTTCCAACCGTGGGAATAA	0.383													12	76					0	0	0	0	T	35717460	C	T	35717460	2	4	19	1	0	0	0	0	0	0	0	1	13191	639	23	1		1	RBL1	20	35717460	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08	26156422	35717460	27308060	175	4304											
LBP	3929	broad.mit.edu	37	chr20	36992694	36992694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagcccctcgggcaacaGcccagatgctggaggtgatg	9	6	15	11	1	0	2	0	1	0	1	1	4	0	4	3	4	4	2	3	4	2	0			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:36992694G>T	ENST00000217407.2	+	7	879	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	240					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCGGGCAACAGCCCAGATGCT	0.562													6	44					0.00198382	0.00212365	1	0	T	36992694	G	T	36992694	3	4	19	1	0	0	0	0	1	0	0	0	8704	971	34	4	744	4	LBP	20	36992694	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	1275234	36992694	26032826	176	4305											
B4GALT5	9334	broad.mit.edu	37	chr20	48263615	48263615	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcaagtcaagaggataaTctagggaggtaaaggaaaaa	18	7	13	3	0	3	1	2	0	1	1	3	4	3	4	0	5	0	2	0	5	8	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:48263615T>C	ENST00000371711.4	-	3	438	c.250_splice	c.e3-1	p.D84_splice		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	84					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			AAGAGGATAATCTAGGGAGGT	0.413													14	49					0	0	0	0	C	48263615	T	C	48263615	5	2	19	1	0	0	0	0	0	0	1	0	1278	1449	50	5	943	5	B4GALT5	20	48263615	Splice_Site	SNP	T	TCGA-BA-6872-01A-11D-1870-08	11270921	48263615	14761905	177	4306											
PRPF6	24148	broad.mit.edu	37	chr20	62626765	62626765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaggactgatgacacctgGcacaggtgagctggacatga	11	6	14	10	0	0	4	0	4	0	0	0	6	0	6	2	4	1	2	2	4	0	0			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:62626765G>T	ENST00000535781.1	+	6	812	c.701G>T	c.(700-702)gGc>gTc	p.G234V	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	234					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATGACACCTGGCACAGGTGAG	0.527													11	51					5.50884e-06	6.16888e-06	1	0	T	62626765	G	T	62626765	3	4	19	1	0	0	0	0	1	0	0	0	12654	1203	42	4	723	4	PRPF6	20	62626765	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	14363150	62626765	398755	178	4307											
BAGE2	85319	broad.mit.edu	37	chr21	11038861	11038861	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggaactaagagctgaaggGtaattacgcagcatgtcatg	14	8	13	6	1	1	2	1	1	0	1	1	4	1	3	0	2	4	4	0	2	5	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr21:11038861G>T	ENST00000470054.1	-	0	1342									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAGCTGAAGGGTAATTACGCA	0.438													30	270					1.26612e-14	1.49353e-14	1	0	T	11038861	G	T	11038861	1	4	19	0	1	0	0	0	0	0	0	0	1296	1276	44	4		4	BAGE2	21	11038861	RNA	SNP	G	TCGA-BA-6872-01A-11D-1870-08		11038861	37091034	179	4308											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047691	46047691	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccatctgctgtgtgcctgtCtgctctggggcttcctcttt	1	16	10	14	0	4	0	0	0	4	0	5	0	5	0	3	2	3	3	3	2	0	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr21:46047691C>G	ENST00000397911.3	+	1	652	c.603C>G	c.(601-603)gtC>gtG	p.V201V	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	201	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GTGTGCCTGTCTGCTCTGGGG	0.622													72	296					0	0	0	0	G	46047691	C	G	46047691	2	3	19	1	0	0	0	0	0	0	0	1	8568	900	32	2		2	KRTAP10-9	21	46047691	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08	35008830	46047691	2082204	180	4309											
PCNT	5116	broad.mit.edu	37	chr21	47783764	47783764	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	attgcagccagtgtgggcggGagccgcccacagcccaggac	8	4	15	14	2	0	0	0	0	0	0	0	2	0	2	4	3	4	1	4	3	0	1			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr21:47783764G>C	ENST00000359568.5	+	14	2631	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	842					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.E842*(1)|p.E842K(1)|p.E842Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGTGGGCGGGAGCCGCCCAC	0.662													8	129					0	0	0	0	C	47783764	G	C	47783764	3	2	19	1	0	0	0	0	1	0	0	0	11661	1175	41	2	2578	2	PCNT	21	47783764	Missense_Mutation	SNP	G	TCGA-BA-6872-01A-11D-1870-08	1736073	47783764	346131	181	4310											
MICAL3	57553	broad.mit.edu	37	chr22	18301236	18301236	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggttggcagggacaacggCtcgccttccggctttggcag	5	8	17	11	3	0	0	0	0	0	0	2	1	1	1	2	7	1	5	2	7	1	3			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:18301236C>T	ENST00000441493.2	-	26	4543	c.4191G>A	c.(4189-4191)gaG>gaA	p.E1397E		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1397	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGACAACGGCTCGCCTTCCG	0.647													34	94					0	0	0	0	T	18301236	C	T	18301236	2	4	19	1	0	0	0	0	0	0	0	1	9640	796	28	4		4	MICAL3	22	18301236	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08		18301236	33003330	182	4311											
CABIN1	23523	broad.mit.edu	37	chr22	24463127	24463127	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccagcccagctgcttcttCtgcaggtgtgtgctgccagt	4	11	13	13	0	2	0	0	0	2	0	2	0	2	0	3	2	6	4	3	2	0	2			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:24463127C>T	ENST00000398319.2	+	16	2612	c.2227C>T	c.(2227-2229)Ctg>Ttg	p.L743L	CABIN1_ENST00000263119.5_Silent_p.L743L|CABIN1_ENST00000405822.2_Silent_p.L693L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	743					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTGCTTCTTCTGCAGGTGTG	0.532													5	26					0	0	0	0	T	24463127	C	T	24463127	2	4	19	1	0	0	0	0	0	0	0	1	2553	912	32	2		2	CABIN1	22	24463127	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08	6161891	24463127	26841439	183	4312											
SRRD	402055	broad.mit.edu	37	chr22	26886165	26886168	+	Splice_Site	DEL	GTAA	GTAA	-																															ttcaaaggacttgaggagagGtaagtctgagaatgctgaga																										TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:26886165_26886168delGTAA	ENST00000215917.6	+	5	778		c.e5+1			NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing						rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTGAGGAGAGGTAAGTCTGAGAAT	0.461													7	37	---	---	---	---					-	26886168	GTAA	-	26886165	8	5	19	1	0	1	0	1	0	0	1	0	15257	1275	44	0	783	0	SRRD	22	26886165	Splice_Site	DEL	GTAA	TCGA-BA-6872-01A-11D-1870-08	2423038	26886165	24418401	184	4313											
TPST2	8459	broad.mit.edu	37	chr22	26928676	26928676	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaacctgaaaatatcctttCagattggctggtgttttata	11	16	7	7	0	1	2	1	1	0	1	2	2	2	2	2	2	1	2	2	2	6	7			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:26928676C>T	ENST00000338754.4	-	5	1347	c.1077G>A	c.(1075-1077)ctG>ctA	p.L359L	TPST2_ENST00000403880.1_Silent_p.L359L|TPST2_ENST00000398110.2_Silent_p.L359L	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	359					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						AATATCCTTTCAGATTGGCTG	0.378													35	233					0	0	0	0	T	26928676	C	T	26928676	2	4	19	1	0	0	0	0	0	0	0	1	16523	813	29	2		2	TPST2	22	26928676	Silent	SNP	C	TCGA-BA-6872-01A-11D-1870-08	42511	26928676	24375890	185	4314											
SMC1B	27127	broad.mit.edu	37	chr22	45745620	45745620	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaacttactttgcctatgtTagtattgtctagggctgcat	9	16	9	7	0	1	0	0	0	1	0	1	1	1	0	1	1	4	4	1	1	6	7			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:45745620T>A	ENST00000357450.4	-	23	3483	c.3484A>T	c.(3484-3486)Aac>Tac	p.N1162Y	SMC1B_ENST00000404354.3_Intron	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1162					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTGCCTATGTTAGTATTGTCT	0.333													17	26					0	0	0	0	A	45745620	T	A	45745620	3	1	19	1	0	0	0	0	1	0	0	0	14870	1754	61	5	235	5	SMC1B	22	45745620	Missense_Mutation	SNP	T	TCGA-BA-6872-01A-11D-1870-08	18816944	45745620	5558946	186	4315											
REPS2	9185	broad.mit.edu	37	chrX	17047658	17047658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtttcagcaccttatgAagctaggcagccccttgtcc	7	12	9	13	0	1	1	1	1	0	0	2	1	2	1	4	1	4	5	4	1	3	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chrX:17047658A>G	ENST00000357277.3	+	5	854	c.683A>G	c.(682-684)gAa>gGa	p.E228G	REPS2_ENST00000303843.7_Missense_Mutation_p.E227G|REPS2_ENST00000380064.4_Missense_Mutation_p.E88G	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	228					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GCACCTTATGAAGCTAGGCAG	0.483													3	57					0	0	0	0	G	17047658	A	G	17047658	3	3	19	1	0	0	0	0	1	0	0	0	13311	246	9	5	701	5	REPS2	23	17047658	Missense_Mutation	SNP	A	TCGA-BA-6872-01A-11D-1870-08		17047658	138222902	187	4316											
CDKL5	6792	broad.mit.edu	37	chrX	18646534	18646534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagttgttacatctctcttCggcctcaaatcacccggctt	8	13	6	14	2	4	0	2	0	2	0	6	0	4	0	2	2	1	3	2	2	3	4			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chrX:18646534C>T	ENST00000379989.3	+	19	2825	c.2540C>T	c.(2539-2541)tCg>tTg	p.S847L	CDKL5_ENST00000379996.3_Missense_Mutation_p.S847L	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	847					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CATCTCTCTTCGGCCTCAAAT	0.483													63	93					0	0	0	0	T	18646534	C	T	18646534	3	4	19	1	0	0	0	0	1	0	0	0	3186	893	31	1	2606	1	CDKL5	23	18646534	Missense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	1598876	18646534	136624026	188	4317											
GABRQ	55879	broad.mit.edu	37	chrX	151818953	151818953	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttaacagctaccttgtgCaagtctactggcctactgtc	10	12	8	11	0	1	0	0	0	1	0	2	0	1	0	2	1	6	3	2	1	6	5			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chrX:151818953C>T	ENST00000370306.2	+	7	831	c.811C>T	c.(811-813)Caa>Taa	p.Q271*		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	271						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCTTGTGCAAGTCTACTG	0.488													209	67					0	0	0	0	T	151818953	C	T	151818953	4	4	19	1	0	0	0	0	0	1	0	0	6223	711	25	4	837	4	GABRQ	23	151818953	Nonsense_Mutation	SNP	C	TCGA-BA-6872-01A-11D-1870-08	133172419	151818953	3451607	189	4318											
PER3	8863	broad.mit.edu	37	chr1	7902814	7902814	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggtagaagacagctgttGagtgactgtgaggatgaacc	11	10	14	6	0	1	6	0	4	1	2	1	7	1	7	1	2	2	3	1	2	3	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:7902814G>C	ENST00000377532.3	+	21	3856	c.3632G>C	c.(3631-3633)tGa>tCa	p.*1211S	PER3_ENST00000361923.2_Nonstop_Mutation_p.*1202S			P56645	PER3_HUMAN	period circadian clock 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GACAGCTGTTGAGTGACTGTG	0.438													24	77					0	0	0	0	C	7902814	G	C	7902814	4	2	20	1	0	0	0	0	0	0	0	0	11802	1285	45	2	3687	2	PER3	1	7902814	Nonstop_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08		7902814	241347807	1	4319											
EPHA2	1969	broad.mit.edu	37	chr1	16462185	16462185	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctcgtacttccacactcGgctctgctgcggcgggggga	5	8	14	14	4	1	0	0	0	1	0	4	2	2	1	2	5	3	3	2	5	1	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:16462185G>A	ENST00000358432.5	-	6	1547	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	465	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TTCCACACTCGGCTCTGCTGC	0.662													35	36					0	0	0	0	A	16462185	G	A	16462185	4	1	20	1	0	0	0	0	0	1	0	0	5205	1124	39	1	1585	1	EPHA2	1	16462185	Nonsense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	8559371	16462185	232788436	2	4320											
YARS	8565	broad.mit.edu	37	chr1	33276553	33276553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctgcaatctttgacatggGcacaaagtaagccacatgtg	12	10	10	9	0	2	1	0	1	2	0	2	1	2	1	1	1	2	3	1	1	3	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:33276553G>A	ENST00000373477.4	-	2	1071	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	55					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	p.P55S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTTGACATGGGCACAAAGTAA	0.488													5	424					0	0	0	0	A	33276553	G	A	33276553	3	1	20	1	0	0	0	0	1	0	0	0	17563	1203	42	4	1471	4	YARS	1	33276553	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	16814368	33276553	215974068	3	4321											
KIAA0754	643314	broad.mit.edu	37	chr1	39879889	39879889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcagtgcccaccccagagGtgcctgccatcccagctgct	6	8	9	18	0	1	1	1	0	0	1	2	1	2	1	6	1	5	2	6	1	0	1			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:39879889G>A	ENST00000530275.1	+	1	3739	c.3544G>A	c.(3544-3546)Gtg>Atg	p.V1182M	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1182	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACCCCAGAGGTGCCTGCCAT	0.627													6	37					0	0	0	0	A	39879889	G	A	39879889	3	1	20	1	0	0	0	0	1	0	0	0	8243	1261	44	4	3954	4	KIAA0754	1	39879889	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	6603336	39879889	209370732	4	4322											
CAP1	10487	broad.mit.edu	37	chr1	40530008	40530008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcacctgtcagctgtcaGcgaaagtatccaggccctgg	10	9	10	12	1	3	0	3	0	0	0	4	1	4	0	3	2	2	2	3	2	3	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:40530008G>A	ENST00000372797.3	+	5	965	c.404G>A	c.(403-405)aGc>aAc	p.S135N	CAP1_ENST00000340450.3_Missense_Mutation_p.S134N|CAP1_ENST00000372802.1_Missense_Mutation_p.S134N|CAP1_ENST00000372792.2_Missense_Mutation_p.S135N|CAP1_ENST00000372798.1_Missense_Mutation_p.S134N|CAP1_ENST00000372805.3_Missense_Mutation_p.S135N	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	135					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	p.S135N(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGCTGTCAGCGAAAGTATC	0.512													4	116					0	0	0	0	A	40530008	G	A	40530008	3	1	20	1	0	0	0	0	1	0	0	0	2644	971	34	4	418	4	CAP1	1	40530008	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	650119	40530008	208720613	5	4323											
PTPRF	5792	broad.mit.edu	37	chr1	44069439	44069439	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaccatagatttcggcaaGgatgaccagcacttcacagt	14	8	8	11	1	1	2	1	1	0	1	2	3	1	3	2	2	2	2	2	2	3	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:44069439G>A	ENST00000359947.4	+	16	2956	c.2616G>A	c.(2614-2616)aaG>aaA	p.K872K	PTPRF_ENST00000438120.1_Silent_p.K863K|PTPRF_ENST00000372413.3_Silent_p.K863K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.K872K|PTPRF_ENST00000422171.2_Silent_p.K220K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	872	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATTTCGGCAAGGATGACCAGC	0.632													18	89					0	0	0	0	A	44069439	G	A	44069439	2	1	20	1	0	0	0	0	0	0	0	1	12883	991	35	4		4	PTPRF	1	44069439	Silent	SNP	G	TCGA-BA-6873-01A-11D-1870-08	3539431	44069439	205181182	6	4324											
TAL1	6886	broad.mit.edu	37	chr1	47691450	47691450	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcggctcgtctccttggcGacgccgttcagcaggaccag	5	7	14	15	6	2	0	1	0	1	0	4	2	2	1	3	3	1	3	3	3	0	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:47691450G>A	ENST00000371883.3	-	2	687	c.111C>T	c.(109-111)gtC>gtT	p.V37V	TAL1_ENST00000371884.2_Silent_p.V37V|TAL1_ENST00000294339.3_Silent_p.V37V			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	37					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTCCTTGGCGACGCCGTTCA	0.796			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								11	27					0	0	0	0	A	47691450	G	A	47691450	2	1	20	1	0	0	0	0	0	0	0	1	15632	1045	37	1		1	TAL1	1	47691450	Silent	SNP	G	TCGA-BA-6873-01A-11D-1870-08	3622011	47691450	201559171	7	4325											
SGIP1	84251	broad.mit.edu	37	chr1	67105475	67105475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacagaagaaaagcaatgggGcaccaaatggattttatgcg	16	8	11	6	1	0	2	0	0	0	2	0	3	0	3	1	3	3	2	1	3	7	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:67105475G>A	ENST00000371037.4	+	5	264	c.187G>A	c.(187-189)Gca>Aca	p.A63T	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Missense_Mutation_p.A38T|SGIP1_ENST00000371039.1_Missense_Mutation_p.A39T|SGIP1_ENST00000237247.6_Missense_Mutation_p.A67T|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	63					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAGCAATGGGGCACCAAATGG	0.289													14	53					0	0	0	0	A	67105475	G	A	67105475	3	1	20	1	0	0	0	0	1	0	0	0	14293	1203	42	4	205	4	SGIP1	1	67105475	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	19414025	67105475	182145146	8	4326											
PSRC1	84722	broad.mit.edu	37	chr1	109824422	109824422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcacaaaggtctcccgcCgaggactgggcttcactcgg	8	7	12	14	3	3	0	2	0	1	0	5	2	3	1	2	4	1	2	2	4	1	1	rs114022452	byFrequency	TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:109824422C>T	ENST00000438534.2	-	4	476	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	PSRC1_ENST00000369903.2_Missense_Mutation_p.R113Q|PSRC1_ENST00000369904.3_Missense_Mutation_p.R113Q|PSRC1_ENST00000369909.2_Missense_Mutation_p.R113Q|PSRC1_ENST00000369907.3_Missense_Mutation_p.R113Q|PSRC1_ENST00000409267.1_Missense_Mutation_p.R113Q|PSRC1_ENST00000409138.2_Missense_Mutation_p.R113Q	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	113	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GGTCTCCCGCCGAGGACTGGG	0.672													32	53					0	0	0	0	T	109824422	C	T	109824422	3	4	20	1	0	0	0	0	1	0	0	0	12798	652	23	1	744	1	PSRC1	1	109824422	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	42718947	109824422	139426199	9	4327											
NTRK1	4914	broad.mit.edu	37	chr1	156845368	156845368	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtccctgcatttcatgacaTtgggtggcagctccctgtcc	5	13	10	13	0	1	1	1	1	0	0	4	1	4	1	3	2	2	3	3	2	0	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:156845368T>C	ENST00000368196.3	+	11	1513	c.1393T>C	c.(1393-1395)Ttg>Ctg	p.L465L	NTRK1_ENST00000358660.3_Silent_p.L465L|NTRK1_ENST00000524377.1_Silent_p.L471L|NTRK1_ENST00000392302.2_Silent_p.L435L	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	471					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TTTCATGACATTGGGTGGCAG	0.607			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			15	78					0	0	0	0	C	156845368	T	C	156845368	2	2	20	1	0	0	0	0	0	0	0	1	10777	1490	52	5		5	NTRK1	1	156845368	Silent	SNP	T	TCGA-BA-6873-01A-11D-1870-08	47020946	156845368	92405253	10	4328											
HHIPL2	79802	broad.mit.edu	37	chr1	222696022	222696022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttcaggctcttcctcCtcttgccctggcggacgtgg	2	13	12	14	2	3	0	1	0	2	0	5	1	5	1	3	5	1	2	3	5	0	4			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:222696022C>T	ENST00000343410.6	-	9	2154	c.2096G>A	c.(2095-2097)aGg>aAg	p.R699K	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	699					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCTCTTCCTCCTCTTGCCCTG	0.567													103	269					0	0	0	0	T	222696022	C	T	222696022	3	4	20	1	0	0	0	0	1	0	0	0	7144	681	24	4	82	4	HHIPL2	1	222696022	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	65850654	222696022	26554599	11	4329											
HHIPL2	79802	broad.mit.edu	37	chr1	222721186	222721186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtgctgatcacagcagccGaaggactcatagtcagagca	12	8	11	10	1	3	2	3	1	0	1	3	4	3	3	1	1	4	3	1	1	2	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:222721186G>A	ENST00000343410.6	-	1	259	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	67					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CACAGCAGCCGAAGGACTCAT	0.567													23	40					0	0	0	0	A	222721186	G	A	222721186	2	1	20	1	0	0	0	0	0	0	0	1	7144	1049	37	1		1	HHIPL2	1	222721186	Silent	SNP	G	TCGA-BA-6873-01A-11D-1870-08	25164	222721186	26529435	12	4330											
OR2M4	26245	broad.mit.edu	37	chr1	248402849	248402849	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatttgttgtgtggtaatgCtaatctttccagtttcagtt	7	20	8	6	0	3	0	2	0	1	0	4	0	4	0	1	1	1	5	1	1	2	7			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:248402849C>T	ENST00000306687.1	+	1	619	c.619C>T	c.(619-621)Cta>Tta	p.L207L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTGGTAATGCTAATCTTTCC	0.433													12	78					0	0	0	0	T	248402849	C	T	248402849	2	4	20	1	0	0	0	0	0	0	0	1	11083	796	28	4		4	OR2M4	1	248402849	Silent	SNP	C	TCGA-BA-6873-01A-11D-1870-08	25681663	248402849	847772	13	4331											
PSME4	23198	broad.mit.edu	37	chr2	54120868	54120868	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccttttctgtcttctaaTgatagaaaagtaattaactg	12	18	5	6	0	3	2	0	1	3	1	4	2	4	2	1	0	1	1	1	0	6	8			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:54120868T>C	ENST00000404125.1	-	35	4036	c.3981A>G	c.(3979-3981)tcA>tcG	p.S1327S	PSME4_ENST00000421748.2_Silent_p.S471S	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1327					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGTCTTCTAATGATAGAAAAG	0.289													8	30					0	0	0	0	C	54120868	T	C	54120868	2	2	20	1	0	0	0	0	0	0	0	1	12788	1451	51	5		5	PSME4	2	54120868	Silent	SNP	T	TCGA-BA-6873-01A-11D-1870-08		54120868	189078505	14	4332											
TFCP2L1	29842	broad.mit.edu	37	chr2	121981961	121981961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtagccatcattgctctCagctgcaagagagaaacact	12	9	10	10	0	2	2	2	0	1	2	3	3	2	2	1	1	5	4	1	1	3	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:121981961C>T	ENST00000263707.5	-	15	1493	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	466					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.E466Q(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TCATTGCTCTCAGCTGCAAGA	0.517													17	32					0	0	0	0	T	121981961	C	T	121981961	3	4	20	1	0	0	0	0	1	0	0	0	15890	835	29	2	47	2	TFCP2L1	2	121981961	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	67861093	121981961	121217412	15	4333											
GPR155	151556	broad.mit.edu	37	chr2	175301127	175301127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccacagaaagttccagcaGaagtctttgcaccacacctg	13	7	8	13	0	1	2	0	0	1	2	2	2	2	2	4	0	3	3	4	0	2	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:175301127G>A	ENST00000392552.2	-	16	2568	c.2330C>T	c.(2329-2331)tCt>tTt	p.S777F	GPR155_ENST00000295500.4_Missense_Mutation_p.S777F|GPR155_ENST00000392551.2_Missense_Mutation_p.S777F|GPR155_ENST00000459996.1_5'UTR	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	777	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						AGTTCCAGCAGAAGTCTTTGC	0.473													33	62					0	0	0	0	A	175301127	G	A	175301127	3	1	20	1	0	0	0	0	1	0	0	0	6709	942	33	2	286	2	GPR155	2	175301127	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	53319166	175301127	67898246	16	4334											
HOXD13	3239	broad.mit.edu	37	chr2	176958165	176958165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcgtaccggccaacgagGtgccagcgcgagccaaggag	10	2	16	13	5	0	0	0	0	0	0	0	3	0	1	4	3	6	2	4	3	3	1			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:176958165G>T	ENST00000392539.3	+	1	547	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	183					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GGCCAACGAGGTGCCAGCGCG	0.627			T	NUP98	AML*								12	53					0.00010058	0.00010551	1	0	T	176958165	G	T	176958165	3	4	20	1	0	0	0	0	1	0	0	0	7372	1261	44	4	549	4	HOXD13	2	176958165	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	1657038	176958165	66241208	17	4335											
CASP8	841	broad.mit.edu	37	chr2	202131411	202131411	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaaggagctgctcttcCgaattaatagactggatttg	10	13	10	8	1	1	2	0	1	1	1	3	5	3	4	2	2	2	2	2	2	4	4			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:202131411C>T	ENST00000358485.4	+	2	575	c.379C>T	c.(379-381)Cga>Tga	p.R127*	CASP8_ENST00000432109.2_Nonsense_Mutation_p.R68*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R68*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.R68*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R68*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.R68*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.R68*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R68*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	68	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R127*(1)|p.R68*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTGCTCTTCCGAATTAATAG	0.453										HNSCC(4;0.00038)			16	49					0	0	0	0	T	202131411	C	T	202131411	4	4	20	1	0	0	0	0	0	1	0	0	2702	644	23	1	385	1	CASP8	2	202131411	Nonsense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	25173246	202131411	41067962	18	4336											
IDH1	3417	broad.mit.edu	37	chr2	209108281	209108281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaactgtgtgcaaaatcttCaattgacttatcttgattat	12	16	7	6	0	3	2	1	2	2	0	3	3	3	3	0	1	2	1	0	1	6	5			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:209108281C>T	ENST00000415913.1	-	6	949	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	IDH1_ENST00000345146.2_Missense_Mutation_p.E190K|IDH1_ENST00000446179.1_Missense_Mutation_p.E190K			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	190					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GCAAAATCTTCAATTGACTTA	0.408			Mis		gliobastoma								28	40					0	0	0	0	T	209108281	C	T	209108281	3	4	20	1	0	0	0	0	1	0	0	0	7547	835	29	2	696	2	IDH1	2	209108281	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	6976870	209108281	34091092	19	4337											
LRRFIP2	9209	broad.mit.edu	37	chr3	37095356	37095356	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttttcctactgctgggccaGaagtgctgtcctattggcct	5	14	11	11	0	0	1	0	0	0	1	2	1	2	1	4	2	3	3	4	2	3	5			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:37095356G>C	ENST00000421307.1	-	29	2574	c.2152C>G	c.(2152-2154)Ctg>Gtg	p.L718V	LRRFIP2_ENST00000336686.4_Missense_Mutation_p.L718V|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.L421V|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.L500V|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.L397V|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.L421V	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	718					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGCTGGGCCAGAAGTGCTGTC	0.532													36	77					0	0	0	0	C	37095356	G	C	37095356	3	2	20	1	0	0	0	0	1	0	0	0	9092	933	33	2	17	2	LRRFIP2	3	37095356	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08		37095356	160927074	20	4338											
ZNF197	10168	broad.mit.edu	37	chr3	44673621	44673621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctgcccctgaagcttctgCcctttcccaggaagagaacc	8	9	8	16	0	1	2	0	1	1	1	3	4	3	3	6	1	4	1	6	1	3	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:44673621C>T	ENST00000396058.1	+	3	742	c.575C>T	c.(574-576)gCc>gTc	p.A192V	ZNF197_ENST00000383744.4_Missense_Mutation_p.A192V|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Missense_Mutation_p.A192V|ZNF197_ENST00000344387.4_Missense_Mutation_p.A192V			O14709	ZN197_HUMAN	zinc finger protein 197	192					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAAGCTTCTGCCCTTTCCCAG	0.498													5	424					0	0	0	0	T	44673621	C	T	44673621	3	4	20	1	0	0	0	0	1	0	0	0	17854	739	26	4	585	4	ZNF197	3	44673621	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	7578265	44673621	153348809	21	4339											
KIAA1524	57650	broad.mit.edu	37	chr3	108288376	108288376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagtggcgctgccaggtgGagactgttcaaacatcatct	10	9	12	10	1	3	2	2	0	1	2	3	3	3	2	1	3	2	2	1	3	1	1			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:108288376G>T	ENST00000295746.8	-	9	1049	c.973C>A	c.(973-975)Cca>Aca	p.P325T	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.P166T	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	325						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGCCAGGTGGAGACTGTTCA	0.458													6	25					1.06961e-07	1.14449e-07	1	0	T	108288376	G	T	108288376	3	4	20	1	0	0	0	0	1	0	0	0	8290	1174	41	2	1796	2	KIAA1524	3	108288376	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	63614755	108288376	89734054	22	4340											
PARP14	54625	broad.mit.edu	37	chr3	122418601	122418602	+	Frame_Shift_Ins	INS	-	-	A																															tcaggtctaaatataaagtcINSaacccaattaaagtggatcc																										TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:122418601_122418602insA	ENST00000474629.2	+	6	1466_1467	c.1200_1201insA	c.(1198-1203)gtacccfs	p.P401fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AATATAAAGTCAACCCAATTAA	0.406													55	123	---	---	---	---					A	122418602	-	A	122418601	7	5	20	1	0	1	1	0	0	0	0	0	11529	813	29	0	1222	0	PARP14	3	122418601	Frame_Shift_Ins	INS	-	TCGA-BA-6873-01A-11D-1870-08	14130225	122418601	75603829	23	4341											
PLSCR4	57088	broad.mit.edu	37	chr3	145912935	145912935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaagcaagctccaaaaatCatggctttcatcttcacatc	14	10	6	11	0	4	0	3	0	1	0	6	1	5	1	1	2	2	3	1	2	4	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:145912935C>T	ENST00000354952.2	-	8	1161	c.921G>A	c.(919-921)atG>atA	p.M307I	PLSCR4_ENST00000493382.1_Missense_Mutation_p.M307I|PLSCR4_ENST00000446574.2_Missense_Mutation_p.M307I|PLSCR4_ENST00000383083.2_Missense_Mutation_p.M217I|PLSCR4_ENST00000433593.2_Missense_Mutation_p.M202I	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	307					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CTCCAAAAATCATGGCTTTCA	0.398													6	49					0	0	0	0	T	145912935	C	T	145912935	3	4	20	1	0	0	0	0	1	0	0	0	12184	826	29	2	76	2	PLSCR4	3	145912935	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	23494334	145912935	52109495	24	4342											
MED12L	116931	broad.mit.edu	37	chr3	151082800	151082800	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagtaaagcaaaccatataTaataacgtgatgcctgcaaa	20	8	6	7	1	0	1	0	1	0	0	0	1	0	1	2	0	5	3	2	0	9	5			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:151082800T>C	ENST00000474524.1	+	20	2924	c.2886T>C	c.(2884-2886)taT>taC	p.Y962Y	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.Y822Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	962					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAACCATATATAATAACGTGA	0.353													68	246					0	0	0	0	C	151082800	T	C	151082800	2	2	20	1	0	0	0	0	0	0	0	1	9498	1413	49	5		5	MED12L	3	151082800	Silent	SNP	T	TCGA-BA-6873-01A-11D-1870-08	5169865	151082800	46939630	25	4343											
ENPEP	2028	broad.mit.edu	37	chr4	111441470	111441470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagaacatcacacagaaaCgctttttgttggacccaaga	15	9	7	10	1	2	3	2	0	0	3	2	4	2	4	1	1	2	2	1	1	4	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr4:111441470C>T	ENST00000265162.5	+	10	2017	c.1675C>T	c.(1675-1677)Cgc>Tgc	p.R559C		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	559					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CACACAGAAACGCTTTTTGTT	0.448													34	30					0	0	0	0	T	111441470	C	T	111441470	3	4	20	1	0	0	0	0	1	0	0	0	5166	536	19	1	1713	1	ENPEP	4	111441470	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08		111441470	79712806	26	4344											
CEP72	55722	broad.mit.edu	37	chr5	637680	637680	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcagaagttggatttgtCaggagaaatggtgcctggtc	9	13	13	6	0	2	2	2	0	1	2	4	4	2	3	1	4	1	1	1	4	2	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr5:637680C>G	ENST00000264935.5	+	7	1043	c.953C>G	c.(952-954)tCa>tGa	p.S318*	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	318					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TTGGATTTGTCAGGAGAAATG	0.552													15	108					0	0	0	0	G	637680	C	G	637680	4	3	20	1	0	0	0	0	0	1	0	0	3289	838	29	2	979	2	CEP72	5	637680	Nonsense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08		637680	180277580	27	4345											
DHX29	54505	broad.mit.edu	37	chr5	54603304	54603304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttgctttgggcctccccgGcaattccagcctcggcagat	5	11	10	15	2	1	1	0	0	1	1	4	1	3	1	5	3	2	3	5	3	1	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr5:54603304G>A	ENST00000251636.5	-	1	246	c.98C>T	c.(97-99)gCc>gTc	p.A33V		NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	33	Ala-rich.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GGCCTCCCCGGCAATTCCAGC	0.662													41	157					0	0	0	0	A	54603304	G	A	54603304	3	1	20	1	0	0	0	0	1	0	0	0	4540	1203	42	4	4119	4	DHX29	5	54603304	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	53965624	54603304	126311956	28	4346											
KIF4B	285643	broad.mit.edu	37	chr5	154394891	154394891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcagccattgatactgCggtagaagaagaagctcaag	13	7	13	8	1	1	4	1	1	0	3	1	4	1	4	1	2	5	4	1	2	6	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr5:154394891C>T	ENST00000435029.4	+	1	1632	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	491					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATTGATACTGCGGTAGAAGAA	0.443													16	114					0	0	0	0	T	154394891	C	T	154394891	3	4	20	1	0	0	0	0	1	0	0	0	8355	768	27	1	1474	1	KIF4B	5	154394891	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	99791587	154394891	26520369	29	4347											
ZNF454	285676	broad.mit.edu	37	chr5	178369801	178369801	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagaaagaatggctgtCagccacctgccaaccatggt	13	6	12	10	0	1	3	1	0	0	3	1	4	1	3	4	3	3	1	4	3	4	0			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr5:178369801C>A	ENST00000320129.3	+	2	312	c.9C>A	c.(7-9)gtC>gtA	p.V3V	ZNF454_ENST00000519564.1_Silent_p.V3V	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GAATGGCTGTCAGCCACCTGC	0.537													7	65					5.18039e-06	5.48814e-06	1	0	A	178369801	C	A	178369801	2	1	20	1	0	0	0	0	0	0	0	1	18018	813	29	2		2	ZNF454	5	178369801	Silent	SNP	C	TCGA-BA-6873-01A-11D-1870-08	23974910	178369801	2545459	30	4348											
BTNL8	79908	broad.mit.edu	37	chr5	180335650	180335650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggaggacgcagcattCtcctgtttcctgtctcctaa	6	12	12	11	1	2	0	0	0	2	0	5	2	3	2	3	3	1	3	3	3	1	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr5:180335650C>A	ENST00000231229.4	+	2	348	c.114C>A	c.(112-114)ttC>ttA	p.F38L	BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.F38L|BTNL8_ENST00000340184.4_Missense_Mutation_p.F38L	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	38	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGCAGCATTCTCCTGTTTCC	0.552													37	70					2.47872e-24	2.82153e-24	1	0	A	180335650	C	A	180335650	3	1	20	1	0	0	0	0	1	0	0	0	1576	912	32	2	146	2	BTNL8	5	180335650	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	1965849	180335650	579610	31	4349											
RREB1	6239	broad.mit.edu	37	chr6	7230732	7230732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcagcgccgcgttcgcGgccaagcgcaactgcatcca	8	5	13	15	6	0	0	0	0	0	0	2	1	1	0	3	1	5	4	3	1	2	1			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr6:7230732G>A	ENST00000379938.2	+	10	2937	c.2400G>A	c.(2398-2400)gcG>gcA	p.A800A	RREB1_ENST00000379933.3_Silent_p.A800A|RREB1_ENST00000349384.6_Silent_p.A800A|RREB1_ENST00000334984.6_Silent_p.A800A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	800					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCGCGTTCGCGGCCAAGCGCA	0.711													4	19					0	0	0	0	A	7230732	G	A	7230732	2	1	20	1	0	0	0	0	0	0	0	1	13764	1103	39	1		1	RREB1	6	7230732	Silent	SNP	G	TCGA-BA-6873-01A-11D-1870-08		7230732	163884335	32	4350											
TAAR2	9287	broad.mit.edu	37	chr6	132938773	132938773	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaagcaaccaagatgtcaTagccctctattccatctgca	14	9	5	13	0	3	1	1	0	2	1	4	1	4	1	3	0	5	2	3	0	6	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr6:132938773T>G	ENST00000275191.2	-	1	544	c.437A>C	c.(436-438)tAt>tCt	p.Y146S	TAAR2_ENST00000537809.1_Missense_Mutation_p.Y146S|TAAR2_ENST00000367931.1_Missense_Mutation_p.Y191S	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	191						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CAAGATGTCATAGCCCTCTAT	0.493													8	80					0	0	0	0	G	132938773	T	G	132938773	3	3	20	1	0	0	0	0	1	0	0	0	15581	1406	49	5	487	5	TAAR2	6	132938773	Missense_Mutation	SNP	T	TCGA-BA-6873-01A-11D-1870-08	125708041	132938773	38176294	33	4351											
ABCA13	154664	broad.mit.edu	37	chr7	48314202	48314202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actccttaatgcctgtagttCatcacactagtccacaaaat	13	12	4	12	0	2	0	2	0	0	0	4	0	4	0	3	0	1	2	3	0	5	4			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr7:48314202C>T	ENST00000435803.1	+	17	4963	c.4939C>T	c.(4939-4941)Cat>Tat	p.H1647Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1647					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						GCCTGTAGTTCATCACACTAG	0.373													60	137					0	0	0	0	T	48314202	C	T	48314202	3	4	20	1	0	0	0	0	1	0	0	0	31	826	29	2	4834	2	ABCA13	7	48314202	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08		48314202	110824461	34	4352											
WBSCR17	64409	broad.mit.edu	37	chr7	70885987	70885987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacaactttgaggtgcaGcggtacgagaactcggccca	11	6	13	11	3	0	2	0	1	0	1	1	4	0	3	1	4	5	2	1	4	3	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr7:70885987G>T	ENST00000333538.5	+	5	1492	c.858G>T	c.(856-858)caG>caT	p.Q286H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	286						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTGAGGTGCAGCGGTACGAGA	0.582													37	133					1.90571e-15	2.08072e-15	1	0	T	70885987	G	T	70885987	3	4	20	1	0	0	0	0	1	0	0	0	17360	962	34	4	876	4	WBSCR17	7	70885987	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	22571785	70885987	88252676	35	4353											
PCLO	27445	broad.mit.edu	37	chr7	82785646	82785646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaccaggttgagctggaCgcccagggtccgggggtctt	6	8	17	10	2	1	2	0	2	1	1	2	4	2	3	3	5	1	2	3	5	0	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr7:82785646C>T	ENST00000423517.2	-	2	648	c.311G>A	c.(310-312)cGt>cAt	p.R104H	PCLO_ENST00000333891.8_Missense_Mutation_p.R104H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	104					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGAGCTGGACGCCCAGGGTC	0.428													9	43					0	0	0	0	T	82785646	C	T	82785646	3	4	20	1	0	0	0	0	1	0	0	0	11654	536	19	1	15230	1	PCLO	7	82785646	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	11899659	82785646	76353017	36	4354											
CSMD1	64478	broad.mit.edu	37	chr8	3565950	3565950	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacagacagagtttttaTggcttccatccttgctgggc	8	13	9	11	0	1	2	1	0	0	2	3	2	3	2	2	2	1	3	2	2	1	5			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr8:3565950T>C	ENST00000520002.1	-	7	1550	c.995A>G	c.(994-996)cAt>cGt	p.H332R	CSMD1_ENST00000602723.1_Missense_Mutation_p.H332R|CSMD1_ENST00000400186.3_Missense_Mutation_p.H332R|CSMD1_ENST00000602557.1_Missense_Mutation_p.H332R|CSMD1_ENST00000542608.1_Missense_Mutation_p.H332R|CSMD1_ENST00000539096.1_Missense_Mutation_p.H332R|CSMD1_ENST00000537824.1_Missense_Mutation_p.H332R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	332						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGAGTTTTTATGGCTTCCATC	0.463													18	32					0	0	0	0	C	3565950	T	C	3565950	3	2	20	1	0	0	0	0	1	0	0	0	3976	1464	51	5	9768	5	CSMD1	8	3565950	Missense_Mutation	SNP	T	TCGA-BA-6873-01A-11D-1870-08		3565950	142798072	37	4355											
CSMD3	114788	broad.mit.edu	37	chr8	113241072	113241072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctacagaactactatttGtaccatgaggttgatttgaa	12	14	9	6	0	0	4	0	3	0	1	0	4	0	4	1	2	4	3	1	2	6	7			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr8:113241072G>T	ENST00000297405.5	-	70	11121	c.10877C>A	c.(10876-10878)aCa>aAa	p.T3626K	CSMD3_ENST00000343508.3_Missense_Mutation_p.T3586K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3457K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3556K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3626						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTACTATTTGTACCATGAGG	0.279										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	75					3.73194e-20	4.15956e-20	1	0	T	113241072	G	T	113241072	3	4	20	1	0	0	0	0	1	0	0	0	3978	1377	48	4	254	4	CSMD3	8	113241072	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	109675122	113241072	33122950	38	4356											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			24	8					0	0	0	0	A	21971120	G	A	21971120	4	1	20	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08		21971120	119242311	39	4357											
OR13C8	138802	broad.mit.edu	37	chr9	107332319	107332319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggagtgatgactcccatgCttaatcctctcatctatagt	10	14	7	10	0	2	2	1	2	2	0	5	3	4	3	2	1	1	1	2	1	3	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr9:107332319C>A	ENST00000335040.1	+	1	871	c.871C>A	c.(871-873)Ctt>Att	p.L291I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GACTCCCATGCTTAATCCTCT	0.408													20	68					8.04996e-18	8.87985e-18	1	0	A	107332319	C	A	107332319	3	1	20	1	0	0	0	0	1	0	0	0	11009	797	28	4	873	4	OR13C8	9	107332319	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	85361199	107332319	33881112	40	4358											
NOTCH1	4851	broad.mit.edu	37	chr9	139412704	139412704	+	Frame_Shift_Del	DEL	G	G	-																															cagttggagccctcgttacaGgggttgctgatgcatgcgtc																										TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr9:139412704delG	ENST00000277541.6	-	7	1215	c.1140delC	c.(1138-1140)ccfs	p.P380fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	380	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTCGTTACAGGGGTTGCTGA	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			10	23	---	---	---	---					-	139412704	G	-	139412704	7	5	20	1	0	1	0	1	0	0	0	0	10617	987	35	0	6639	0	NOTCH1	9	139412704	Frame_Shift_Del	DEL	G	TCGA-BA-6873-01A-11D-1870-08	32080385	139412704	1800727	41	4359											
CCAR1	55749	broad.mit.edu	37	chr10	70525798	70525798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtctttgagtgtcctattgGactacagattagaggataat	11	15	10	5	0	1	3	0	1	1	2	2	5	2	5	1	2	1	0	1	2	4	6			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:70525798G>C	ENST00000265872.6	+	17	2379	c.2260G>C	c.(2260-2262)Gac>Cac	p.D754H	CCAR1_ENST00000543719.1_Missense_Mutation_p.D739H|CCAR1_ENST00000535016.1_Missense_Mutation_p.D739H	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	754	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TGTCCTATTGGACTACAGATT	0.338													19	53					0	0	0	0	C	70525798	G	C	70525798	3	2	20	1	0	0	0	0	1	0	0	0	2755	1174	41	2	2322	2	CCAR1	10	70525798	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08		70525798	65008949	42	4360											
HELLS	3070	broad.mit.edu	37	chr10	96336456	96336456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggaacccaggaggaacGtcaaaaattggtaagaaata	18	7	10	6	1	2	1	2	0	0	1	2	4	2	4	1	4	2	1	1	4	7	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:96336456G>A	ENST00000348459.5	+	10	1031	c.926G>A	c.(925-927)cGt>cAt	p.R309H	HELLS_ENST00000394045.1_Missense_Mutation_p.R309H|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394044.1_Missense_Mutation_p.R309H|HELLS_ENST00000371332.4_Missense_Mutation_p.R309H|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	309	Helicase ATP-binding.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CAGGAGGAACGTCAAAAATTG	0.333													5	38					0	0	0	0	A	96336456	G	A	96336456	3	1	20	1	0	0	0	0	1	0	0	0	7096	1145	40	1	964	1	HELLS	10	96336456	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	25810658	96336456	39198291	43	4361											
SORCS3	22986	broad.mit.edu	37	chr10	106907398	106907398	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacatcatcagtacagaCgagaaccaagtatttgctgc	14	9	8	10	1	2	2	2	0	0	2	2	3	2	2	1	0	5	4	1	0	4	3	rs147429425	by1000genomes	TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:106907398C>T	ENST00000369701.3	+	9	1553	c.1326C>T	c.(1324-1326)gaC>gaT	p.D442D		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	442						integral to membrane	neuropeptide receptor activity	p.D442D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGTACAGACGAGAACCAAG	0.473													19	58					0	0	0	0	T	106907398	C	T	106907398	2	4	20	1	0	0	0	0	0	0	0	1	15020	535	19	1		1	SORCS3	10	106907398	Silent	SNP	C	TCGA-BA-6873-01A-11D-1870-08	10570942	106907398	28627349	44	4362											
VAX1	11023	broad.mit.edu	37	chr10	118896029	118896029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgagctcggtcctctcgCggcccaccacgtactggcag	5	6	14	16	5	1	0	0	0	1	0	4	1	2	0	3	4	2	3	3	4	1	1			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:118896029C>T	ENST00000277905.2	-	2	627	c.383G>A	c.(382-384)cGc>cAc	p.R128H	VAX1_ENST00000369206.5_Missense_Mutation_p.R128H	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	128						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GGTCCTCTCGCGGCCCACCAC	0.667													15	40					0	0	0	0	T	118896029	C	T	118896029	3	4	20	1	0	0	0	0	1	0	0	0	17230	768	27	1	769	1	VAX1	10	118896029	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	11988631	118896029	16638718	45	4363											
FAM24A	118670	broad.mit.edu	37	chr10	124671218	124671218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcttactggttgccgCgatggtgctcctaagtgttg	7	12	13	9	2	0	0	0	0	0	0	1	1	1	0	2	2	5	5	2	2	3	4			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:124671218C>T	ENST00000368894.1	+	2	189	c.68C>T	c.(67-69)gCg>gTg	p.A23V		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	23						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CTGGTTGCCGCGATGGTGCTC	0.473													6	427					0	0	0	0	T	124671218	C	T	124671218	3	4	20	1	0	0	0	0	1	0	0	0	5591	768	27	1	70	1	FAM24A	10	124671218	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	5775189	124671218	10863529	46	4364											
CTBP2	1488	broad.mit.edu	37	chr10	126678151	126678151	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggttgggagagggcgctTgggaaggatgtgccactgtc	6	9	19	7	1	0	1	0	0	0	1	1	4	0	3	1	5	1	3	1	5	1	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:126678151T>C	ENST00000309035.6	-	9	3024	c.2894A>G	c.(2893-2895)cAa>cGa	p.Q965R	CTBP2_ENST00000411419.2_Missense_Mutation_p.Q425R|CTBP2_ENST00000334808.6_Missense_Mutation_p.Q493R|CTBP2_ENST00000494626.2_Missense_Mutation_p.Q425R|CTBP2_ENST00000531469.1_Missense_Mutation_p.Q425R|CTBP2_ENST00000337195.5_Missense_Mutation_p.Q425R	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	425					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGAGGGCGCTTGGGAAGGATG	0.567													4	116					0	0	0	0	C	126678151	T	C	126678151	3	2	20	1	0	0	0	0	1	0	0	0	4030	1812	63	5	67	5	CTBP2	10	126678151	Missense_Mutation	SNP	T	TCGA-BA-6873-01A-11D-1870-08	2006933	126678151	8856596	47	4365											
ADRBK1	156	broad.mit.edu	37	chr11	67044804	67044804	+	Frame_Shift_Del	DEL	T	T	-																															aggtgacctttgagaagatcTtttcccagaagctgggtgag																										TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr11:67044804delT	ENST00000308595.5	+	2	465	c.175delT	c.(175-177)ttfs	p.F59fs	ADRBK1_ENST00000526285.1_Frame_Shift_Del_p.F59fs	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	59	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TGAGAAGATCTTTTCCCAGAA	0.607													57	149	---	---	---	---					-	67044804	T	-	67044804	7	5	20	1	0	1	0	1	0	0	0	0	343	1609	56	0	181	0	ADRBK1	11	67044804	Frame_Shift_Del	DEL	T	TCGA-BA-6873-01A-11D-1870-08		67044804	67961712	48	4366											
FOLH1B	219595	broad.mit.edu	37	chr11	89395322	89395322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttttttttttcagaataCgcttataggcatggaattgc	11	18	7	5	1	1	1	1	0	0	1	1	2	1	2	0	2	2	2	0	2	6	9			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343													5	56					0	0	0	0	T	89395322	C	T	89395322	1	4	20	0	1	0	0	0	0	0	0	0	6025	551	19	1		1	FOLH1B	11	89395322	RNA	SNP	C	TCGA-BA-6873-01A-11D-1870-08	22350518	89395322	45611194	49	4367			1	5		2	2	12	N	C_A	2.913702e-05
FOLH1B	219595	broad.mit.edu	37	chr11	89395333	89395333	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaatacgcttataggcAtggaattgcagaggctgttg	11	12	12	6	1	1	2	1	0	0	2	1	3	1	3	0	3	2	5	0	3	5	6			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr11:89395333A>G	ENST00000532352.1	+	0	731							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCTTATAGGCATGGAATTGCA	0.348													5	73					0	0	0	0	G	89395333	A	G	89395333	1	3	20	0	1	0	0	0	0	0	0	0	6025	232	8	5		5	FOLH1B	11	89395333	RNA	SNP	A	TCGA-BA-6873-01A-11D-1870-08	11	89395333	45611183	50	4368			1	5		2	2	12	N	C_A	2.913702e-05
GPR162	27239	broad.mit.edu	37	chr12	6935885	6935885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacccctcgggaaccaggctCcttcctgcacaagtggtcat	8	9	9	15	1	1	0	1	0	0	0	4	1	3	1	5	3	3	2	5	3	3	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr12:6935885C>T	ENST00000311268.3	+	5	2070	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	GPR162_ENST00000382315.3_Missense_Mutation_p.S124F|GPR162_ENST00000428545.2_Missense_Mutation_p.S144F	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	428						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GAACCAGGCTCCTTCCTGCAC	0.612													86	143					0	0	0	0	T	6935885	C	T	6935885	3	4	20	1	0	0	0	0	1	0	0	0	6715	855	30	2	1316	2	GPR162	12	6935885	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08		6935885	126916010	51	4369											
BEST3	144453	broad.mit.edu	37	chr12	70049468	70049468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctcctgtagcttcttcttCtggggctggaggggtgttcg	2	14	15	10	1	3	0	0	0	3	0	5	1	4	1	2	5	1	4	2	5	1	5			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr12:70049468C>G	ENST00000330891.5	-	10	1452	c.1226G>C	c.(1225-1227)aGa>aCa	p.R409T	BEST3_ENST00000488961.1_Missense_Mutation_p.R196T|BEST3_ENST00000553096.1_Missense_Mutation_p.R303T|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	409						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GCTTCTTCTTCTGGGGCTGGA	0.552													65	102					0	0	0	0	G	70049468	C	G	70049468	3	3	20	1	0	0	0	0	1	0	0	0	1410	913	32	2	784	2	BEST3	12	70049468	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	63113583	70049468	63802427	52	4370											
ATXN2	6311	broad.mit.edu	37	chr12	111895024	111895024	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttgcccttacctgaacAggactgggtgcaggatgact	9	10	13	9	0	0	3	0	3	0	0	0	5	0	5	2	3	4	2	2	3	2	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr12:111895024A>G	ENST00000377617.3	-	22	3671	c.3510T>C	c.(3508-3510)ccT>ccC	p.P1170P	ATXN2_ENST00000535949.1_Silent_p.P863P|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Silent_p.P905P|ATXN2_ENST00000389153.4_Silent_p.P907P	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1170					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTACCTGAACAGGACTGGGTG	0.537													3	40					0	0	0	0	G	111895024	A	G	111895024	2	3	20	1	0	0	0	0	0	0	0	1	1215	175	7	5		5	ATXN2	12	111895024	Silent	SNP	A	TCGA-BA-6873-01A-11D-1870-08	41845556	111895024	21956871	53	4371											
OASL	8638	broad.mit.edu	37	chr12	121465598	121465598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagagggggcagattggctCtgggggacctggctttcaca	8	8	17	8	0	2	2	1	0	1	2	2	4	2	3	1	6	0	3	1	6	0	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr12:121465598C>T	ENST00000257570.5	-	4	950	c.680G>A	c.(679-681)aGa>aAa	p.R227K	OASL_ENST00000339275.5_Intron	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	227					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGATTGGCTCTGGGGGACCT	0.488													25	39					0	0	0	0	T	121465598	C	T	121465598	3	4	20	1	0	0	0	0	1	0	0	0	10873	913	32	2	876	2	OASL	12	121465598	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	9570574	121465598	12386297	54	4372											
DCT	1638	broad.mit.edu	37	chr13	95112446	95112446	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacttgagaatccagagTcccatctgctttatcaaacc	12	11	5	13	0	3	2	2	1	1	2	5	3	5	2	3	0	2	1	3	0	3	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr13:95112446T>C	ENST00000377028.5	-	6	1491	c.1078A>G	c.(1078-1080)Act>Gct	p.T360A	DCT_ENST00000446125.1_Missense_Mutation_p.T360A	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	360					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GAATCCAGAGTCCCATCTGCT	0.408													8	26					0	0	0	0	C	95112446	T	C	95112446	3	2	20	1	0	0	0	0	1	0	0	0	4336	1667	58	5	600	5	DCT	13	95112446	Missense_Mutation	SNP	T	TCGA-BA-6873-01A-11D-1870-08		95112446	20057432	55	4373											
NPAS3	64067	broad.mit.edu	37	chr14	34269100	34269100	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggacagccgcgacagcgaCgacagcttcgagcactcgga	10	3	13	15	7	0	0	0	0	0	0	2	6	0	2	2	2	4	2	2	2	0	1	rs148867285		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr14:34269100C>T	ENST00000346562.2	+	11	1565	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	NPAS3_ENST00000357798.5_Silent_p.D516D|NPAS3_ENST00000551492.1_Silent_p.D534D|NPAS3_ENST00000356141.4_Silent_p.D529D|NPAS3_ENST00000548645.1_Silent_p.D499D	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCGACAGCGACGACAGCTTCG	0.637													27	43					0	0	0	0	T	34269100	C	T	34269100	2	4	20	1	0	0	0	0	0	0	0	1	10634	535	19	1		1	NPAS3	14	34269100	Silent	SNP	C	TCGA-BA-6873-01A-11D-1870-08		34269100	73080440	56	4374											
PAPLN	89932	broad.mit.edu	37	chr14	73721248	73721248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagttgtggcgttggcgtcCggaagcggagcgttacttgc	5	11	16	9	5	1	0	1	0	0	0	2	2	2	2	1	4	4	3	1	4	2	4	rs143213374		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr14:73721248C>T	ENST00000427855.1	+	13	1432	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	PAPLN_ENST00000381166.3_Missense_Mutation_p.R444W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R417W|PAPLN_ENST00000554301.1_Missense_Mutation_p.R444W|PAPLN_ENST00000555445.1_Missense_Mutation_p.R444W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	444	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGTTGGCGTCCGGAAGCGGAG	0.622													58	211					0	0	0	0	T	73721248	C	T	73721248	3	4	20	1	0	0	0	0	1	0	0	0	11499	643	23	1	1291	1	PAPLN	14	73721248	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	39452148	73721248	33628292	57	4375											
TRAF3	7187	broad.mit.edu	37	chr14	103357700	103357700	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcccacgaggccagctcCgccgtgcagcacgtcaacct	9	4	11	17	4	1	0	1	0	0	0	2	1	2	0	5	2	4	3	5	2	2	0			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr14:103357700C>T	ENST00000560371.1	+	8	982	c.765C>T	c.(763-765)tcC>tcT	p.S255S	TRAF3_ENST00000392745.2_Silent_p.S255S|TRAF3_ENST00000351691.5_Silent_p.S230S|TRAF3_ENST00000347662.4_Silent_p.S230S|TRAF3_ENST00000539721.1_Intron	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	255					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGGCCAGCTCCGCCGTGCAGC	0.557													7	35					0	0	0	0	T	103357700	C	T	103357700	2	4	20	1	0	0	0	0	0	0	0	1	16534	639	23	1		1	TRAF3	14	103357700	Silent	SNP	C	TCGA-BA-6873-01A-11D-1870-08	29636452	103357700	3991840	58	4376											
LCAT	3931	broad.mit.edu	37	chr16	67974104	67974112	+	In_Frame_Del	DEL	GCCCACGCC	GCCCACGCC	-																															taggtgcggggcgtgggcagGcccacgccgtaaagacagta																								rs112299487		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr16:67974104_67974112delGCCCACGCC	ENST00000264005.5	-	6	1047_1055	c.1018_1026delGGCGTGGGC	c.(1018-1026)del	p.GVG340del		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	340					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GCGTGGGCAGGCCCACGCCGTAAAGACAG	0.608													33	153	---	---	---	---					-	67974112	GCCCACGCC	-	67974104	7	5	20	1	0	1	0	1	0	0	0	0	8711	1190	42	0	300	0	LCAT	16	67974104	In_Frame_Del	DEL	GCCCACGCC	TCGA-BA-6873-01A-11D-1870-08		67974104	22380649	59	4377											
NFAT5	10725	broad.mit.edu	37	chr16	69727514	69727515	+	Frame_Shift_Del	DEL	CT	CT	-																															atagttgccatgcagagtaaCtctccatcccaggaacagca																								rs148486602		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr16:69727514_69727515delCT	ENST00000349945.1	+	14	5056_5057	c.3504_3505delCT	c.(3502-3507)aactfs	p.NS1168fs	NFAT5_ENST00000354436.2_Frame_Shift_Del_p.NS1244fs|NFAT5_ENST00000566899.1_Frame_Shift_Del_p.NS1168fs|NFAT5_ENST00000432919.1_Frame_Shift_Del_p.NS1262fs|NFAT5_ENST00000393742.2_Frame_Shift_Del_p.NS1168fs|NFAT5_ENST00000567239.1_Frame_Shift_Del_p.NS1261fs	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1244					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGCAGAGTAACTCTCCATCCCA	0.505													23	69	---	---	---	---					-	69727515	CT	-	69727514	7	5	20	1	0	1	0	1	0	0	0	0	10430	564	20	0	3836	0	NFAT5	16	69727514	Frame_Shift_Del	DEL	CT	TCGA-BA-6873-01A-11D-1870-08	1753410	69727514	20627239	60	4378											
ATP2A3	489	broad.mit.edu	37	chr17	3851149	3851149	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccgatgtgatattggtgcCctggccaggggagggacaag	8	7	17	9	1	0	1	0	1	0	0	0	4	0	3	3	5	1	0	3	5	2	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr17:3851149C>T	ENST00000309890.7	-	8	781	c.630_splice	c.e8-1	p.G211_splice	ATP2A3_ENST00000397041.3_Splice_Site_p.G211_splice|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Splice_Site_p.G211_splice|ATP2A3_ENST00000359983.3_Splice_Site_p.G211_splice|ATP2A3_ENST00000397035.3_Splice_Site_p.G211_splice|ATP2A3_ENST00000397043.3_Splice_Site_p.G211_splice	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	211					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ATATTGGTGCCCTGGCCAGGG	0.637													6	36					0	0	0	0	T	3851149	C	T	3851149	5	4	20	1	0	0	0	0	0	0	1	0	1142	637	22	4	2635	4	ATP2A3	17	3851149	Splice_Site	SNP	C	TCGA-BA-6873-01A-11D-1870-08		3851149	77344061	61	4379											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr17:7578271T>A	ENST00000420246.2	-	6	710	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	29					0	0	0	0	A	7578271	T	A	7578271	3	1	20	1	0	0	0	0	1	0	0	0	16476	1464	51	5	716	5	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-BA-6873-01A-11D-1870-08	3727122	7578271	73616939	62	4380											
TP53	7157	broad.mit.edu	37	chr17	7578384	7578401	+	In_Frame_Del	DEL	GCAGCGCTCATGGTGGGG	GCAGCGCTCATGGTGGGG	-																															tgctcaccatcgctatctgaGcagcgctcatggtgggggca																								rs68130327	by1000genomes	TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG	ENST00000420246.2	-	5	661_678	c.529_546delCCCCACCATGAGCGCTGC	c.(529-546)del	p.PHHERC177del	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000413465.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000269305.4_In_Frame_Del_p.PHHERC177del|TP53_ENST00000359597.4_In_Frame_Del_p.PHHERC177del|TP53_ENST00000445888.2_In_Frame_Del_p.PHHERC177del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179Y(98)|p.H179L(43)|p.H179Q(23)|p.R181H(21)|p.R181C(19)|p.P177R(18)|p.P177L(17)|p.H178fs*69(16)|p.H179N(16)|p.E180*(14)|p.R181P(14)|p.H179D(13)|p.P177P(10)|p.P177_C182delPHHERC(8)|p.C182S(8)|p.P177S(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.E180D(6)|p.H47Y(6)|p.H178P(6)|p.H86Y(6)|p.E180K(5)|p.H178fs*3(5)|p.H178Q(5)|p.C182*(5)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.P177H(3)|p.H178N(3)|p.R175_E180delRCPHHE(3)|p.R181L(3)|p.R174fs*24(3)|p.H179fs*68(2)|p.H179H(2)|p.H47Q(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.P177fs*3(2)|p.C182R(2)|p.C182Y(2)|p.C182C(2)|p.R49C(2)|p.R88C(2)|p.H86R(2)|p.H86Q(2)|p.H85fs*69(2)|p.R181R(2)|p.H46fs*>45(2)|p.V173fs*59(2)|p.V173fs*69(1)|p.E180G(1)|p.E180fs*67(1)|p.E180Q(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.H178fs*6(1)|p.H47D(1)|p.R174fs*3(1)|p.H47N(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H178L(1)|p.E171fs*1(1)|p.H179del(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.E180>DGRCPHQ(1)|p.H178del(1)|p.E48D(1)|p.E180_S183del(1)|p.P177T(1)|p.R49P(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R175_H178>X(1)|p.C176_P177delCP(1)|p.P177fs*69(1)|p.R42fs*24(1)|p.R88P(1)|p.C182fs*4(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.C182fs*65(1)|p.E87D(1)|p.H85_S90delHHERCS(1)|p.H86D(1)|p.H86N(1)|p.C176fs*65(1)|p.R181G(1)|p.C176fs*68(1)|p.R174_H178>S(1)|p.H46D(1)|p.R181>XXXXXXX(1)|p.H178_H179>QY(1)|p.H85D(1)|p.?(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.P84R(1)|p.P177_H179delPHH(1)|p.E180fs*6(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTC	0.638		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	65	---	---	---	---					-	7578401	GCAGCGCTCATGGTGGGG	-	7578384	7	5	20	1	0	1	0	1	0	0	0	0	16476	963	34	0	752	0	TP53	17	7578384	In_Frame_Del	DEL	GCAGCGCTCATGGTGGGG	TCGA-BA-6873-01A-11D-1870-08	113	7578384	73616826	63	4381											
CCDC144A	9720	broad.mit.edu	37	chr17	16631037	16631038	+	Frame_Shift_Del	DEL	AG	AG	-																															caaaaaattgaatgggagaaAgagctgtacgatttgaggta																										TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr17:16631037_16631038delAG	ENST00000443444.2	+	9	2228_2229	c.2088_2089delAG	c.(2086-2091)aaagfs	p.KE696fs	CCDC144A_ENST00000399273.1_Frame_Shift_Del_p.KE696fs|CCDC144A_ENST00000360524.8_Frame_Shift_Del_p.KE696fs|CCDC144A_ENST00000456009.1_Frame_Shift_Del_p.KE416fs|RP11-219A15.1_ENST00000448331.3_Frame_Shift_Del_p.KE696fs			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	696																	AATGGGAGAAAGAGCTGTACGA	0.302													7	48	---	---	---	---					-	16631038	AG	-	16631037	7	5	20	1	0	1	0	1	0	0	0	0	2802	69	3	0	2122	0	CCDC144A	17	16631037	Frame_Shift_Del	DEL	AG	TCGA-BA-6873-01A-11D-1870-08	9052653	16631037	64564173	64	4382											
PTPRM	5797	broad.mit.edu	37	chr18	7926657	7926657	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgccatcggcaggaccgtGgcaggagacaggctctggtt	8	7	16	10	2	1	1	0	0	1	1	2	3	1	2	2	6	1	4	2	6	0	1			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr18:7926657G>A	ENST00000332175.8	+	5	1676	c.639G>A	c.(637-639)gtG>gtA	p.V213V	PTPRM_ENST00000400060.4_Silent_p.V213V|PTPRM_ENST00000580170.1_Silent_p.V213V|PTPRM_ENST00000400053.4_Silent_p.V151V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	213	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCAGGACCGTGGCAGGAGACA	0.522													9	97					0	0	0	0	A	7926657	G	A	7926657	2	1	20	1	0	0	0	0	0	0	0	1	12888	1335	47	4		4	PTPRM	18	7926657	Silent	SNP	G	TCGA-BA-6873-01A-11D-1870-08		7926657	70150591	65	4383											
WDR18	57418	broad.mit.edu	37	chr19	989771	989771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcacaggtctccaccGggaaccttctggtcatcctg	6	9	9	17	1	4	0	2	0	2	0	6	1	5	1	6	3	1	0	6	3	1	1			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:989771G>A	ENST00000251289.5	+	3	354	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	WDR18_ENST00000591997.1_3'UTR|WDR18_ENST00000587001.2_Missense_Mutation_p.G111R	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	111								p.G111W(1)		endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GGTCTCCACCGGGAACCTTCT	0.632													18	79					0	0	0	0	A	989771	G	A	989771	3	1	20	1	0	0	0	0	1	0	0	0	17374	1116	39	1	341	1	WDR18	19	989771	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08		989771	58139212	66	4384											
ZNF426	79088	broad.mit.edu	37	chr19	9643595	9643595	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagactgggtttgatgatcTgacctcctgagcacagagaa	11	11	11	8	0	1	6	0	4	1	2	2	7	2	6	2	1	1	2	2	1	2	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:9643595T>A	ENST00000593003.1	-	4	614	c.137A>T	c.(136-138)cAg>cTg	p.Q46L	ZNF426_ENST00000253115.2_Missense_Mutation_p.Q84L|ZNF426_ENST00000535489.1_Missense_Mutation_p.Q84L|ZNF426_ENST00000589289.1_Missense_Mutation_p.Q84L			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTTGATGATCTGACCTCCTGA	0.413													24	119					0	0	0	0	A	9643595	T	A	9643595	3	1	20	1	0	0	0	0	1	0	0	0	17995	1580	55	5	1425	5	ZNF426	19	9643595	Missense_Mutation	SNP	T	TCGA-BA-6873-01A-11D-1870-08	8653824	9643595	49485388	67	4385											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941278	13941278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagatcgtgctggacgCggcggccggcggcctgggcc	4	5	17	15	6	0	1	0	0	0	1	1	2	0	2	4	6	2	1	4	6	1	1			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:13941278C>T	ENST00000254323.2	+	13	2573	c.2384C>T	c.(2383-2385)gCg>gTg	p.A795V	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A629V	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	795							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GTGCTGGACGCGGCGGCCGGC	0.697													64	81					0	0	0	0	T	13941278	C	T	13941278	3	4	20	1	0	0	0	0	1	0	0	0	18334	768	27	1	2434	1	ZSWIM4	19	13941278	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08	4297683	13941278	45187705	68	4386											
ZNF507	22847	broad.mit.edu	37	chr19	32844652	32844652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggggtcgatgcagtcGtcattgctattggagagagt	7	12	16	6	2	1	1	1	0	0	1	3	4	1	2	0	4	2	2	0	4	1	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:32844652G>A	ENST00000311921.3	+	2	1108	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	ZNF507_ENST00000544431.1_Missense_Mutation_p.V306I|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.V306I	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CGATGCAGTCGTCATTGCTAT	0.478													19	177					0	0	0	0	A	32844652	G	A	32844652	3	1	20	1	0	0	0	0	1	0	0	0	18048	1145	40	1	918	1	ZNF507	19	32844652	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	18903374	32844652	26284331	69	4387											
BCKDHA	593	broad.mit.edu	37	chr19	41920002	41920002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgaggagggcacgcacGtggggagtgccgccgccctg	6	5	19	11	4	0	1	0	1	0	0	0	3	0	3	3	5	1	2	3	5	0	0			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:41920002G>A	ENST00000269980.2	+	4	792	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.V176M|BCKDHA_ENST00000457836.2_Missense_Mutation_p.V120M|BCKDHA_ENST00000595085.1_Missense_Mutation_p.V176M	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	142					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGGCACGCACGTGGGGAGTGC	0.617													16	83					0	0	0	0	A	41920002	G	A	41920002	3	1	20	1	0	0	0	0	1	0	0	0	1363	1145	40	1	438	1	BCKDHA	19	41920002	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	9075350	41920002	17208981	70	4388											
ERF	2077	broad.mit.edu	37	chr19	42754040	42754040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttgttgaaattgaacttGtaggtgaaccgtttcccctt	9	16	9	7	1	0	3	0	3	0	0	1	3	1	3	3	1	2	4	3	1	4	7			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:42754040G>A	ENST00000222329.4	-	3	469	c.312C>T	c.(310-312)taC>taT	p.Y104Y	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Silent_p.Y29Y	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	104					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				AATTGAACTTGTAGGTGAACC	0.488													30	134					0	0	0	0	A	42754040	G	A	42754040	2	1	20	1	0	0	0	0	0	0	0	1	5259	1372	48	4		4	ERF	19	42754040	Silent	SNP	G	TCGA-BA-6873-01A-11D-1870-08	834038	42754040	16374943	71	4389											
VN1R2	317701	broad.mit.edu	37	chr19	53762720	53762720	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttttccaactattagcccTtttgttctcatgtgccgtga	6	18	7	10	1	1	1	1	1	1	0	3	1	2	1	3	0	3	2	3	0	3	7			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:53762720T>C	ENST00000341702.3	+	1	1176	c.1092T>C	c.(1090-1092)ccT>ccC	p.P364P	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	364					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.P364P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CTATTAGCCCTTTTGTTCTCA	0.433													4	171					0	0	0	0	C	53762720	T	C	53762720	2	2	20	1	0	0	0	0	0	0	0	1	17275	1596	56	5		5	VN1R2	19	53762720	Silent	SNP	T	TCGA-BA-6873-01A-11D-1870-08	11008680	53762720	5366263	72	4390											
NLRP2	55655	broad.mit.edu	37	chr19	55489152	55489152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacgaccacctctagacGtggacgaaatgctggagcgc	13	5	12	11	4	1	2	0	0	1	2	1	6	1	4	2	2	3	1	2	2	4	1			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:55489152G>A	ENST00000543010.1	+	4	501	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	NLRP2_ENST00000339757.7_Missense_Mutation_p.V120M|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000537859.1_Missense_Mutation_p.V120M|NLRP2_ENST00000427260.2_Missense_Mutation_p.V97M|NLRP2_ENST00000448584.2_Missense_Mutation_p.V120M|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000263437.6_Missense_Mutation_p.V120M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	120					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.V120M(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACCTCTAGACGTGGACGAAAT	0.542													31	62					0	0	0	0	A	55489152	G	A	55489152	3	1	20	1	0	0	0	0	1	0	0	0	10547	1145	40	1	368	1	NLRP2	19	55489152	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	1726432	55489152	3639831	73	4391											
SPATA2	9825	broad.mit.edu	37	chr20	48524766	48524766	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctccagcatgctgaaggCgccgtgcagagcccgcaggc	7	5	14	15	4	1	2	0	1	1	1	2	2	1	2	3	2	4	4	3	2	1	0	rs150565930		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr20:48524766C>A	ENST00000422556.1	-	2	611	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S	SPATA2_ENST00000289431.5_Missense_Mutation_p.A88S|SPATA2_ENST00000543716.1_Intron	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	88					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			ATGCTGAAGGCGCCGTGCAGA	0.577													46	98					3.21987e-24	3.62659e-24	1	0	A	48524766	C	A	48524766	3	1	20	1	0	0	0	0	1	0	0	0	15095	768	27	3	1308	3	SPATA2	20	48524766	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08		48524766	14500754	74	4392											
SON	6651	broad.mit.edu	37	chr21	34922496	34922496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgaggtgtaccctgagcCaagcacatcaacaacaatgg	14	7	9	11	0	1	2	1	2	0	0	1	2	1	2	2	2	6	2	2	2	6	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr21:34922496C>G	ENST00000356577.4	+	3	1434	c.959C>G	c.(958-960)cCa>cGa	p.P320R	SON_ENST00000381679.4_Missense_Mutation_p.P320R|SON_ENST00000300278.4_Missense_Mutation_p.P320R|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.P320R	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	320					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TACCCTGAGCCAAGCACATCA	0.468											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	13	104					0	0	0	0	G	34922496	C	G	34922496	3	3	20	1	0	0	0	0	1	0	0	0	15014	594	21	4	969	4	SON	21	34922496	Missense_Mutation	SNP	C	TCGA-BA-6873-01A-11D-1870-08		34922496	13207399	75	4393											
FAM3B	54097	broad.mit.edu	37	chr21	42710379	42710379	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatgcctacaggttactcAgcggaggtggcagaagcaag	11	7	13	10	1	1	1	1	0	0	1	1	2	1	2	2	4	5	3	2	4	5	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr21:42710379A>G	ENST00000398652.3	+	4	421	c.355A>G	c.(355-357)Agc>Ggc	p.S119G	FAM3B_ENST00000357985.2_Missense_Mutation_p.S80G|FAM3B_ENST00000398647.3_Missense_Mutation_p.S32G|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Missense_Mutation_p.S103G			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	80					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CAGGTTACTCAGCGGAGGTGG	0.458													4	123					0	0	0	0	G	42710379	A	G	42710379	3	3	20	1	0	0	0	0	1	0	0	0	5604	188	7	5	248	5	FAM3B	21	42710379	Missense_Mutation	SNP	A	TCGA-BA-6873-01A-11D-1870-08	7787883	42710379	5419516	76	4394											
COL6A1	1291	broad.mit.edu	37	chr21	47409674	47409674	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggtgtgtagggagaaaaAgggagccgtggggagaaggt	11	6	21	3	1	0	2	0	0	0	2	0	5	0	3	1	6	1	1	1	6	4	1			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr21:47409674A>G	ENST00000361866.3	+	11	1026	c.912A>G	c.(910-912)aaA>aaG	p.K304K		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	304	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGGAGAAAAAGGGAGCCGTG	0.637													3	115					0	0	0	0	G	47409674	A	G	47409674	2	3	20	1	0	0	0	0	0	0	0	1	3729	69	3	5		5	COL6A1	21	47409674	Silent	SNP	A	TCGA-BA-6873-01A-11D-1870-08	4699295	47409674	720221	77	4395											
SFI1	9814	broad.mit.edu	37	chr22	31979944	31979944	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccttactgcatgctgcCtgggaccactacaggtaggg	7	9	11	14	0	0	0	0	0	0	0	1	1	1	1	4	3	5	3	4	3	3	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr22:31979944C>G	ENST00000432498.1	+	12	1632	c.1239C>G	c.(1237-1239)gcC>gcG	p.A413A	SFI1_ENST00000400288.2_Silent_p.A444A|SFI1_ENST00000400289.1_Silent_p.A362A|SFI1_ENST00000414585.1_Silent_p.A291A|SFI1_ENST00000443011.1_Silent_p.A291A|SFI1_ENST00000540643.1_Silent_p.A389A|SFI1_ENST00000443326.1_Silent_p.A362A	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	444					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						TGCATGCTGCCTGGGACCACT	0.517													62	123					0	0	0	0	G	31979944	C	G	31979944	2	3	20	1	0	0	0	0	0	0	0	1	14243	668	24	4		4	SFI1	22	31979944	Silent	SNP	C	TCGA-BA-6873-01A-11D-1870-08		31979944	19324622	78	4396											
TNRC6B	23112	broad.mit.edu	37	chr22	40669448	40669448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattccaaatctatgcaagaCggctggggggagagtgacgg	11	7	16	7	2	1	3	0	1	1	2	2	5	2	3	1	5	1	2	1	5	3	2			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr22:40669448C>T	ENST00000454349.2	+	7	3196	c.2985C>T	c.(2983-2985)gaC>gaT	p.D995D	TNRC6B_ENST00000335727.8_Silent_p.D942D|TNRC6B_ENST00000402203.1_Silent_p.D248D|TNRC6B_ENST00000301923.9_Silent_p.D248D	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	995					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CTATGCAAGACGGCTGGGGGG	0.483													5	6					0	0	0	0	T	40669448	C	T	40669448	2	4	20	1	0	0	0	0	0	0	0	1	16435	535	19	1		1	TNRC6B	22	40669448	Silent	SNP	C	TCGA-BA-6873-01A-11D-1870-08	8689504	40669448	10635118	79	4397											
PANX2	56666	broad.mit.edu	37	chr22	50615649	50615649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgttaccaccgggcggccGagggccgcgcgcccaagatc	7	4	14	16	6	0	1	0	0	0	1	1	2	0	1	5	3	1	1	5	3	2	1			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr22:50615649G>A	ENST00000395842.2	+	2	508	c.508G>A	c.(508-510)Gag>Aag	p.E170K	PANX2_ENST00000159647.5_Missense_Mutation_p.E170K	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	170					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCGGGCGGCCGAGGGCCGCGC	0.662													4	10					0	0	0	0	A	50615649	G	A	50615649	3	1	20	1	0	0	0	0	1	0	0	0	11492	1059	37	1	514	1	PANX2	22	50615649	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	9946201	50615649	688917	80	4398											
FRMPD4	9758	broad.mit.edu	37	chrX	12736856	12736856	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattaacaccgaacccctgtTtggcacattgagagatggat	12	10	9	10	1	0	2	0	1	0	1	0	5	0	3	3	2	2	2	3	2	2	3			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chrX:12736856T>G	ENST00000380682.1	+	16	4417	c.3911T>G	c.(3910-3912)tTt>tGt	p.F1304C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1304					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAACCCCTGTTTGGCACATTG	0.507													72	67					0	0	0	0	G	12736856	T	G	12736856	3	3	20	1	0	0	0	0	1	0	0	0	6107	1841	64	5	3973	5	FRMPD4	23	12736856	Missense_Mutation	SNP	T	TCGA-BA-6873-01A-11D-1870-08		12736856	142533704	81	4399											
CACNA1F	778	broad.mit.edu	37	chrX	49089767	49089767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttcccgccttcagattccGacatctttctttcgagattg	6	16	6	13	3	3	2	1	0	2	2	6	4	5	2	3	0	0	0	3	0	0	6			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chrX:49089767G>A	ENST00000376265.2	-	1	66	c.5C>T	c.(4-6)tCg>tTg	p.S2L	CACNA1F_ENST00000323022.5_Missense_Mutation_p.S2L|CACNA1F_ENST00000376251.1_Missense_Mutation_p.S2L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	2					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTCAGATTCCGACATCTTTCT	0.577													23	13					0	0	0	0	A	49089767	G	A	49089767	3	1	20	1	0	0	0	0	1	0	0	0	2568	1059	37	1	6120	1	CACNA1F	23	49089767	Missense_Mutation	SNP	G	TCGA-BA-6873-01A-11D-1870-08	36352911	49089767	106180793	82	4400											
ACTRT2	140625	broad.mit.edu	37	chr1	2939160	2939160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagattgtgctgtcggggGgcactaccctgttccacggg	5	9	17	10	2	0	1	0	0	0	1	2	2	1	1	2	5	2	3	2	5	1	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:2939160G>A	ENST00000378404.2	+	1	1115	c.910G>A	c.(910-912)Ggc>Agc	p.G304S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	304						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GCTGTCGGGGGGCACTACCCT	0.612													24	53					0	0	0	0	A	2939160	G	A	2939160	3	1	21	1	0	0	0	0	1	0	0	0	219	1232	43	4	912	4	ACTRT2	1	2939160	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08		2939160	246311461	1	4401											
CAMTA1	23261	broad.mit.edu	37	chr1	7798137	7798137	+	Silent	SNP	G	G	A																															ttccagacaaggcaggagaaGctgcttcccactgcactgag																										TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:7798137G>A	ENST00000303635.7	+	16	3984	c.3777G>A	c.(3775-3777)aaG>aaA	p.K1259K	CAMTA1_ENST00000439411.2_Silent_p.K1259K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGCAGGAGAAGCTGCTTCCCA	0.498			T	WWTR1	epitheliod hemangioendothelioma								9	41					0	0	0	0	A	7798137	G	A	7798137	2	1	21	1	0	0	0	0	0	0	0	1	2638	962	34	4		4	CAMTA1	1	7798137	Silent	SNP	G	TCGA-BA-7269-01A-11D-2012-08	4858977	7798137	241452484	2	4402	46	2									
CAMTA1	23261	broad.mit.edu	37	chr1	7798138	7798138	+	Silent	SNP	C	C	T																															tccagacaaggcaggagaagCtgcttcccactgcactgagt																										TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:7798138C>T	ENST00000303635.7	+	16	3985	c.3778C>T	c.(3778-3780)Ctg>Ttg	p.L1260L	CAMTA1_ENST00000439411.2_Silent_p.L1260L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCAGGAGAAGCTGCTTCCCAC	0.493			T	WWTR1	epitheliod hemangioendothelioma								9	41					0	0	0	0	T	7798138	C	T	7798138	2	4	21	1	0	0	0	0	0	0	0	1	2638	796	28	4		4	CAMTA1	1	7798138	Silent	SNP	C	TCGA-BA-7269-01A-11D-2012-08	1	7798138	241452483	3	4403	46	2									
TMEM39B	55116	broad.mit.edu	37	chr1	32566231	32566231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatctgcagggcaggaatGtgatgtcattgcaagagaaa	14	8	14	5	0	2	2	1	1	1	1	2	5	2	4	0	3	2	3	0	3	3	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:32566231G>T	ENST00000427288.1	+	9	1439	c.959G>T	c.(958-960)tGt>tTt	p.C320F	TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000487305.1_Intron|TMEM39B_ENST00000336294.5_Intron			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	0						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGGCAGGAATGTGATGTCATT	0.512													20	10					8.81451e-21	1.09979e-20	1	0	T	32566231	G	T	32566231	3	4	21	1	0	0	0	0	1	0	0	0	16256	1392	48	4		4	TMEM39B	1	32566231	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	24768093	32566231	216684390	4	4404											
PABPC4	8761	broad.mit.edu	37	chr1	40034520	40034520	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaactgttcaaatttccgtTttaactctgcctgccgttct	7	17	5	12	2	4	0	2	0	2	0	5	0	5	0	3	0	4	3	3	0	3	5			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:40034520T>A	ENST00000372857.3	-	6	1622	c.830A>T	c.(829-831)aAa>aTa	p.K277I	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.K277I|PABPC4_ENST00000372858.3_Missense_Mutation_p.K277I|PABPC4_ENST00000372862.3_Missense_Mutation_p.K277I	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	277					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAATTTCCGTTTTAACTCTGC	0.418													28	64					0	0	0	0	A	40034520	T	A	40034520	3	1	21	1	0	0	0	0	1	0	0	0	11437	1841	64	5	1192	5	PABPC4	1	40034520	Missense_Mutation	SNP	T	TCGA-BA-7269-01A-11D-2012-08	7468289	40034520	209216101	5	4405											
CMPK1	51727	broad.mit.edu	37	chr1	47834266	47834266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagattgtaccagttgagatAaccatcagtttattaaagag	16	12	8	5	0	1	3	1	1	0	3	1	4	1	3	2	0	2	3	2	0	6	7			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:47834266A>G	ENST00000371873.5	+	2	446	c.297A>G	c.(295-297)atA>atG	p.I99M	CMPK1_ENST00000450808.2_Intron	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN	cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	67					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	CAGTTGAGATAACCATCAGTT	0.403													8	24					0	0	0	0	G	47834266	A	G	47834266	3	3	21	1	0	0	0	0	1	0	0	0	3610	352	13	5	303	5	CMPK1	1	47834266	Missense_Mutation	SNP	A	TCGA-BA-7269-01A-11D-2012-08	7799746	47834266	201416355	6	4406											
FUBP1	8880	broad.mit.edu	37	chr1	78430374	78430374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgacccatactcattcCgaacttctctgaaaccgcct	9	13	4	15	2	3	2	1	2	2	0	5	3	4	2	4	0	3	0	4	0	3	5			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:78430374C>T	ENST00000370767.1	-	10	881	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	FUBP1_ENST00000370768.2_Missense_Mutation_p.R265Q|FUBP1_ENST00000436586.2_Missense_Mutation_p.R286Q			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	265					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATACTCATTCCGAACTTCTCT	0.353			"F, N"		oligodendroglioma								17	57					0	0	0	0	T	78430374	C	T	78430374	3	4	21	1	0	0	0	0	1	0	0	0	6140	652	23	1	1184	1	FUBP1	1	78430374	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	30596108	78430374	170820247	7	4407											
OLFM3	118427	broad.mit.edu	37	chr1	102271700	102271700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggttccagatgtcttgaCtgtaactgggcctgtgattt	6	15	12	8	1	1	3	0	2	1	1	3	3	2	3	2	2	1	2	2	2	1	4			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:102271700C>A	ENST00000370103.4	-	5	844	c.631G>T	c.(631-633)Gtc>Ttc	p.V211F	OLFM3_ENST00000338858.5_Missense_Mutation_p.V231F|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	231						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GATGTCTTGACTGTAACTGGG	0.428													10	31					2.68362e-12	3.14631e-12	1	0	A	102271700	C	A	102271700	3	1	21	1	0	0	0	0	1	0	0	0	10925	565	20	4	753	4	OLFM3	1	102271700	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	23841326	102271700	146978921	8	4408											
RFX5	5993	broad.mit.edu	37	chr1	151316211	151316211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatcgggcagagatgaGatgctgctgtagcaggaagc	11	7	16	7	1	0	3	0	1	0	3	1	6	0	4	0	2	5	6	0	2	2	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:151316211G>T	ENST00000290524.4	-	9	881	c.703C>A	c.(703-705)Ctc>Atc	p.L235I	RFX5_ENST00000452671.2_Missense_Mutation_p.L235I|RFX5_ENST00000452513.2_Missense_Mutation_p.L195I|RFX5_ENST00000368870.2_Missense_Mutation_p.L235I	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	235						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGAGATGAGATGCTGCTGT	0.582													35	110					2.20262e-25	2.79959e-25	1	0	T	151316211	G	T	151316211	3	4	21	1	0	0	0	0	1	0	0	0	13348	942	33	2	1159	2	RFX5	1	151316211	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	49044511	151316211	97934410	9	4409											
SLC27A3	11000	broad.mit.edu	37	chr1	153749041	153749041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcccgccctgagagccatgGggctccacctgtgggctgca	5	7	14	15	1	0	1	0	1	0	1	1	2	1	1	5	3	3	3	5	3	0	0			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:153749041G>T	ENST00000271857.2	+	2	1859	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.G286W			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	286					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGAGCCATGGGGCTCCACCT	0.627													4	152					1.23904e-05	1.32685e-05	1	0	T	153749041	G	T	153749041	3	4	21	1	0	0	0	0	1	0	0	0	14615	1232	43	4	862	4	SLC27A3	1	153749041	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	2432830	153749041	95501580	10	4410											
ATP8B2	57198	broad.mit.edu	37	chr1	154303375	154303378	+	Frame_Shift_Del	DEL	ACTT	ACTT	-																															agttccaggaagttgccaacActtacttcctgttcctcctc																										TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:154303375_154303378delACTT	ENST00000368489.3	+	4	274_277	c.274_277delACTT	c.(274-279)acfs	p.TY92fs	ATP8B2_ENST00000368487.3_Frame_Shift_Del_p.TY59fs|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Frame_Shift_Del_p.TY78fs	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	78					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTTGCCAACACTTACTTCCTGTT	0.461													7	49	---	---	---	---					-	154303378	ACTT	-	154303375	7	5	21	1	0	1	0	1	0	0	0	0	1199	159	6	0	288	0	ATP8B2	1	154303375	Frame_Shift_Del	DEL	ACTT	TCGA-BA-7269-01A-11D-2012-08	554334	154303375	94947246	11	4411											
CD5L	922	broad.mit.edu	37	chr1	157811469	157811469	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagatactcaccaaggAtcaaggagaatagcagagcc	16	5	11	9	0	2	3	2	0	0	3	2	6	2	4	2	2	4	2	2	2	5	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:157811469A>G	ENST00000368174.4	-	1	119	c.23T>C	c.(22-24)aTc>aCc	p.I8T	CD5L_ENST00000484609.1_Intron	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	8					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCACCAAGGATCAAGGAGAA	0.453													5	25					0	0	0	0	G	157811469	A	G	157811469	3	3	21	1	0	0	0	0	1	0	0	0	3056	333	12	5	1044	5	CD5L	1	157811469	Missense_Mutation	SNP	A	TCGA-BA-7269-01A-11D-2012-08	3508094	157811469	91439152	12	4412											
PAPPA2	60676	broad.mit.edu	37	chr1	176738821	176738821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggactgcggtgttcccGacccgtctttggtgaactat	5	12	12	12	4	1	1	0	1	1	0	2	3	2	2	3	3	2	1	3	3	2	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:176738821G>T	ENST00000367662.3	+	16	5566	c.4402G>T	c.(4402-4404)Gac>Tac	p.D1468Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1468	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.D1468Y(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CGGTGTTCCCGACCCGTCTTT	0.507													16	102					0.000308642	0.00032539	1	0	T	176738821	G	T	176738821	3	4	21	1	0	0	0	0	1	0	0	0	11504	1058	37	3	4513	3	PAPPA2	1	176738821	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	18927352	176738821	72511800	13	4413											
ASPM	259266	broad.mit.edu	37	chr1	197072273	197072273	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcctttattctttttctCactttcataccacgataagc	10	17	2	12	1	3	0	2	0	2	0	5	1	4	0	2	0	2	0	2	0	4	8			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:197072273C>A	ENST00000367409.4	-	18	6364	c.6108G>T	c.(6106-6108)gtG>gtT	p.V2036V	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2036	IQ 14.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTTTTTCTCACTTTCATAC	0.338													54	59					6.14515e-18	7.46197e-18	1	0	A	197072273	C	A	197072273	2	1	21	1	0	0	0	0	0	0	0	1	1060	813	29	2		2	ASPM	1	197072273	Silent	SNP	C	TCGA-BA-7269-01A-11D-2012-08	20333452	197072273	52178348	14	4414											
ATP2B4	493	broad.mit.edu	37	chr1	203682333	203682333	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatctggcctaagcttcGggtcctggcgcgatcttctc	6	11	11	13	3	3	1	0	0	3	1	6	2	4	1	2	3	1	1	2	3	2	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:203682333G>C	ENST00000357681.5	+	14	3375	c.2252G>C	c.(2251-2253)cGg>cCg	p.R751P	ATP2B4_ENST00000341360.2_Missense_Mutation_p.R751P|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R739P|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R751P|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R751P	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	751					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTAAGCTTCGGGTCCTGGCG	0.537													26	110					0	0	0	0	C	203682333	G	C	203682333	3	2	21	1	0	0	0	0	1	0	0	0	1146	1116	39	3	2302	3	ATP2B4	1	203682333	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	6610060	203682333	45568288	15	4415											
RPS6KC1	26750	broad.mit.edu	37	chr1	213436154	213436154	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaggctcgctcactcattCaacaggtaatttaactgacc	13	10	7	11	1	3	2	3	1	0	1	4	2	3	2	1	2	2	3	1	2	4	4			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:213436154C>T	ENST00000366960.3	+	14	3235	c.3085C>T	c.(3085-3087)Caa>Taa	p.Q1029*	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.Q817*|RPS6KC1_ENST00000543354.1_3'UTR|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.Q1017*	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1029	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTCACTCATTCAACAGGTAAT	0.418													9	48					0	0	0	0	T	213436154	C	T	213436154	4	4	21	1	0	0	0	0	0	1	0	0	13743	827	29	2	3139	2	RPS6KC1	1	213436154	Nonsense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	9753821	213436154	35814467	16	4416											
LYST	1130	broad.mit.edu	37	chr1	235952058	235952058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttggatcatcaacgctttgGatcccagtgaaattatatga	12	13	8	8	1	2	2	2	2	0	0	3	4	3	4	1	2	1	1	1	2	4	4			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:235952058G>T	ENST00000389794.3	-	13	4805	c.4631C>A	c.(4630-4632)tCc>tAc	p.S1544Y	LYST_ENST00000389793.2_Missense_Mutation_p.S1544Y|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1544					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAACGCTTTGGATCCCAGTGA	0.403													9	29					1.12685e-05	1.21628e-05	1	0	T	235952058	G	T	235952058	3	4	21	1	0	0	0	0	1	0	0	0	9193	1174	41	2	6938	2	LYST	1	235952058	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	22515904	235952058	13298563	17	4417											
OR2M2	391194	broad.mit.edu	37	chr1	248344299	248344299	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctttttctatgatgtcAaaatactagcattgattatg	12	17	5	7	0	3	2	1	2	2	0	3	2	3	2	1	0	2	1	1	0	6	7			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:248344299A>G	ENST00000359682.2	+	1	1012	c.1012A>G	c.(1012-1014)Aaa>Gaa	p.K338E		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	338					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K338E(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTATGATGTCAAAATACTAGC	0.289													23	114					0	0	0	0	G	248344299	A	G	248344299	3	3	21	1	0	0	0	0	1	0	0	0	11081	131	5	5	1014	5	OR2M2	1	248344299	Missense_Mutation	SNP	A	TCGA-BA-7269-01A-11D-2012-08	12392241	248344299	906322	18	4418											
LCLAT1	253558	broad.mit.edu	37	chr2	30863047	30863047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaacattcctcaatcagaGaagcacctcctccaaggaga	15	6	6	14	0	2	2	2	0	0	2	5	4	5	2	4	1	2	1	4	1	4	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:30863047G>C	ENST00000309052.4	+	7	1016	c.807G>C	c.(805-807)gaG>gaC	p.E269D	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.E231D|LCLAT1_ENST00000540623.1_Missense_Mutation_p.E231D	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	269					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CTCAATCAGAGAAGCACCTCC	0.473													51	63					0	0	0	0	C	30863047	G	C	30863047	3	2	21	1	0	0	0	0	1	0	0	0	8730	933	33	2	829	2	LCLAT1	2	30863047	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08		30863047	212336326	19	4419											
DCTN1	1639	broad.mit.edu	37	chr2	74592723	74592723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcatctgcatccttggcaGcactgtccaacttcttctcc	6	13	6	16	0	4	0	1	0	3	0	7	0	6	0	3	1	3	4	3	1	1	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:74592723G>A	ENST00000361874.3	-	25	3265	c.2948C>T	c.(2947-2949)gCt>gTt	p.A983V	DCTN1_ENST00000409567.3_Missense_Mutation_p.A963V|DCTN1_ENST00000409240.1_Missense_Mutation_p.A946V|DCTN1_ENST00000394003.3_Missense_Mutation_p.A976V|DCTN1_ENST00000407639.2_Missense_Mutation_p.A849V|DCTN1_ENST00000409438.1_Missense_Mutation_p.A849V|DCTN1_ENST00000409868.1_Missense_Mutation_p.A966V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	983					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ATCCTTGGCAGCACTGTCCAA	0.567													3	63					0	0	0	0	A	74592723	G	A	74592723	3	1	21	1	0	0	0	0	1	0	0	0	4338	971	34	4	920	4	DCTN1	2	74592723	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	43729676	74592723	168606650	20	4420											
CNNM4	26504	broad.mit.edu	37	chr2	97427416	97427416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcaccgagaaggagaggcGctatgcccgcaagattgagc	11	5	15	10	3	0	4	0	1	0	3	0	6	0	4	2	3	2	3	2	3	3	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:97427416G>A	ENST00000377075.2	+	1	778	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	227	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AAGGAGAGGCGCTATGCCCGC	0.592													4	69					0	0	0	0	A	97427416	G	A	97427416	3	1	21	1	0	0	0	0	1	0	0	0	3645	1087	38	1	682	1	CNNM4	2	97427416	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	22834693	97427416	145771957	21	4421											
VWA3B	200403	broad.mit.edu	37	chr2	98852910	98852910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatcgtcagaaaaggtgaCgcgagaaggaagccaggttt	15	6	13	7	3	1	3	1	1	0	2	2	5	1	4	1	3	1	1	1	3	5	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:98852910C>T	ENST00000477737.1	+	18	2690	c.2486C>T	c.(2485-2487)aCg>aTg	p.T829M		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	829								p.T829M(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAAAAGGTGACGCGAGAAGGA	0.423													22	45					0	0	0	0	T	98852910	C	T	98852910	3	4	21	1	0	0	0	0	1	0	0	0	17337	536	19	1	2552	1	VWA3B	2	98852910	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	1425494	98852910	144346463	22	4422											
INPP4A	3631	broad.mit.edu	37	chr2	99160454	99160454	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taccaggagaacctgaccgaCctccatcagtacagaggtgg	12	6	11	12	1	1	3	1	1	0	2	2	5	2	3	5	3	3	1	5	3	3	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:99160454C>T	ENST00000074304.5	+	11	1326	c.933C>T	c.(931-933)gaC>gaT	p.D311D	INPP4A_ENST00000409540.3_Silent_p.D311D|INPP4A_ENST00000409851.3_Silent_p.D311D|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Silent_p.D311D|INPP4A_ENST00000409016.3_Silent_p.D311D|INPP4A_ENST00000523221.1_Silent_p.D311D	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	311					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						ACCTGACCGACCTCCATCAGT	0.587													3	5					0	0	0	0	T	99160454	C	T	99160454	2	4	21	1	0	0	0	0	0	0	0	1	7805	506	18	4		4	INPP4A	2	99160454	Silent	SNP	C	TCGA-BA-7269-01A-11D-2012-08	307544	99160454	144038919	23	4423											
POTEE	445582	broad.mit.edu	37	chr2	131976382	131976382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccaggtaccacgtccGtggagaagatctggacaagc	11	5	14	11	2	1	2	0	0	1	2	2	5	2	4	3	4	3	1	3	4	3	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:131976382G>A	ENST00000356920.5	+	1	501	c.407G>A	c.(406-408)cGt>cAt	p.R136H	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R136H|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	136							ATP binding										TACCACGTCCGTGGAGAAGAT	0.592													29	78					0	0	0	0	A	131976382	G	A	131976382	3	1	21	1	0	0	0	0	1	0	0	0	12336	1145	40	1	409	1	POTEE	2	131976382	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	32815928	131976382	111222991	24	4424											
KYNU	8942	broad.mit.edu	37	chr2	143712382	143712382	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atatgtttattttacaggagCcaatgagaaagaaatagccc	16	11	8	6	0	0	2	0	1	0	2	0	4	0	3	2	1	3	1	2	1	7	6			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:143712382C>G	ENST00000264170.4	+	5	635	c.377C>G	c.(376-378)gCc>gGc	p.A126G	KYNU_ENST00000409512.1_Missense_Mutation_p.A126G|KYNU_ENST00000375773.2_Missense_Mutation_p.A126G	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	126					anthranilate metabolic process|NAD biosynthetic 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)	TTTACAGGAGCCAATGAGAAA	0.299													3	28					0	0	0	0	G	143712382	C	G	143712382	3	3	21	1	0	0	0	0	1	0	0	0	8640	739	26	4	391	4	KYNU	2	143712382	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	11736000	143712382	99486991	25	4425											
NFE2L2	4780	broad.mit.edu	37	chr2	178096545	178096545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcactgtcaactggttgggGtcttctgtggagaggatgct	6	14	14	7	0	4	1	2	0	2	1	4	3	4	2	0	5	2	2	0	5	1	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:178096545G>C	ENST00000397062.3	-	5	1340	c.786C>G	c.(784-786)gaC>gaG	p.D262E	NFE2L2_ENST00000464747.1_Missense_Mutation_p.D246E|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D239E|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D246E	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	262					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTGGTTGGGGTCTTCTGTGG	0.403			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			10	41					0	0	0	0	C	178096545	G	C	178096545	3	2	21	1	0	0	0	0	1	0	0	0	10438	1252	44	4	1035	4	NFE2L2	2	178096545	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	34384163	178096545	65102828	26	4426											
TTN	7273	broad.mit.edu	37	chr2	179471858	179471858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctcaagcagacctgtgAtgtcacatttagatctctca	10	12	7	12	0	4	3	3	1	1	2	6	3	5	3	2	0	1	1	2	0	2	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:179471858A>G	ENST00000589042.1	-	278	53695	c.53471T>C	c.(53470-53472)aTc>aCc	p.I17824T	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I8759T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I15256T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I8884T|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I8951T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I16183T|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16183	Ig-like 104.						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)			CAGACCTGTGATGTCACATTT	0.413													24	130					0	0	0	0	G	179471858	A	G	179471858	3	3	21	1	0	0	0	0	1	0	0	0	16831	333	12	5	54562	5	TTN	2	179471858	Missense_Mutation	SNP	A	TCGA-BA-7269-01A-11D-2012-08	1375313	179471858	63727515	27	4427											
ZNF142	7701	broad.mit.edu	37	chr2	219510940	219510940	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacacggaggtagtgctTccacttggtgacatagccac	9	9	12	11	1	0	1	0	1	0	0	1	2	1	2	2	3	3	3	2	3	2	4			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:219510940T>A	ENST00000411696.2	-	6	2184	c.1405A>T	c.(1405-1407)Aag>Tag	p.K469*	ZNF142_ENST00000449707.1_Nonsense_Mutation_p.K469*			P52746	ZN142_HUMAN	zinc finger protein 142	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGTAGTGCTTCCACTTGGTG	0.517													43	56					0	0	0	0	A	219510940	T	A	219510940	4	1	21	1	0	0	0	0	0	1	0	0	17826	1792	62	5	3674	5	ZNF142	2	219510940	Nonsense_Mutation	SNP	T	TCGA-BA-7269-01A-11D-2012-08	40039082	219510940	23688433	28	4428											
COPS7B	64708	broad.mit.edu	37	chr2	232653363	232653363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagtggctcagccctcaCtgctctcataagccaggtct	8	10	8	15	0	4	0	3	0	2	0	5	0	4	0	3	2	4	2	3	2	2	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:232653363C>A	ENST00000373608.3	+	2	190	c.83C>A	c.(82-84)aCt>aAt	p.T28N	COPS7B_ENST00000410017.1_Missense_Mutation_p.T28N|COPS7B_ENST00000410024.1_Missense_Mutation_p.T28N|COPS7B_ENST00000409295.1_Intron|COPS7B_ENST00000350033.3_Missense_Mutation_p.T28N|COPS7B_ENST00000409091.1_Intron			Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	28					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TCAGCCCTCACTGCTCTCATA	0.498													29	41					8.58068e-18	1.03272e-17	1	0	A	232653363	C	A	232653363	3	1	21	1	0	0	0	0	1	0	0	0	3769	565	20	4	85	4	COPS7B	2	232653363	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	13142423	232653363	10546010	29	4429											
FANCD2	2177	broad.mit.edu	37	chr3	10122836	10122836	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaacagagatctgcccAagaaattgttcattgtgttt	11	14	7	9	0	3	2	1	0	2	2	4	3	3	2	2	0	2	2	2	0	3	4			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:10122836A>G	ENST00000287647.3	+	31	3122	c.3029A>G	c.(3028-3030)cAa>cGa	p.Q1010R	FANCD2_ENST00000419585.1_Missense_Mutation_p.Q1010R|FANCD2_ENST00000383807.1_Missense_Mutation_p.Q1010R|FANCD2_ENST00000383806.1_Missense_Mutation_p.Q1010R	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1010					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGATCTGCCCAAGAAATTGTT	0.408			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				18	46					0	0	0	0	G	10122836	A	G	10122836	3	3	21	1	0	0	0	0	1	0	0	0	5710	130	5	5	3147	5	FANCD2	3	10122836	Missense_Mutation	SNP	A	TCGA-BA-7269-01A-11D-2012-08		10122836	187899594	30	4430											
CAND2	23066	broad.mit.edu	37	chr3	12858258	12858258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgaccggcttggggatgaCctggagcccacgttactgct	6	9	15	11	2	0	2	0	2	0	0	0	4	0	4	3	5	3	3	3	5	1	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:12858258C>G	ENST00000456430.2	+	10	1868	c.1827C>G	c.(1825-1827)gaC>gaG	p.D609E	CAND2_ENST00000295989.5_Missense_Mutation_p.D516E	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	609					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TTGGGGATGACCTGGAGCCCA	0.647													23	149					0	0	0	0	G	12858258	C	G	12858258	3	3	21	1	0	0	0	0	1	0	0	0	2641	506	18	4	1865	4	CAND2	3	12858258	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	2735422	12858258	185164172	31	4431											
SLC4A7	9497	broad.mit.edu	37	chr3	27477926	27477926	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatatccagcatgactgttCcattgaggatgcaactcctt	10	13	7	11	0	1	2	1	2	0	0	4	3	4	3	3	1	3	3	3	1	2	4			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:27477926C>A	ENST00000295736.5	-	5	585	c.515G>T	c.(514-516)gGa>gTa	p.G172V	SLC4A7_ENST00000440156.1_Missense_Mutation_p.G181V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G172V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G181V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G181V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G181V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G177V|SLC4A7_ENST00000425128.2_Missense_Mutation_p.G177V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G177V|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G177V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	172						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CATGACTGTTCCATTGAGGAT	0.398													11	30					4.68919e-08	5.27049e-08	1	0	A	27477926	C	A	27477926	3	1	21	1	0	0	0	0	1	0	0	0	14746	855	30	2	3213	2	SLC4A7	3	27477926	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	14619668	27477926	170544504	32	4432											
SETD2	29072	broad.mit.edu	37	chr3	47162207	47162207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggtctacctgatcttggatCccagtaaccattgccttgcc	8	12	8	13	0	2	1	0	1	2	0	3	2	3	2	5	2	4	1	5	2	2	5			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:47162207C>G	ENST00000409792.3	-	3	3961	c.3919G>C	c.(3919-3921)Gat>Cat	p.D1307H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GATCTTGGATCCCAGTAACCA	0.473			"N, F, S, Mis"		clear cell renal carcinoma								10	31					0	0	0	0	G	47162207	C	G	47162207	3	3	21	1	0	0	0	0	1	0	0	0	14218	855	30	2	3851	2	SETD2	3	47162207	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	19684281	47162207	150860223	33	4433											
SLC12A8	84561	broad.mit.edu	37	chr3	124906105	124906105	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaacacatagagcagcccGatggtgcctcccgtctgccc	9	6	9	17	2	1	1	0	0	1	1	2	2	2	1	5	1	5	1	5	1	2	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:124906105G>A	ENST00000423114.2	-	4	452	c.453C>T	c.(451-453)atC>atT	p.I151I	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Silent_p.I122I|SLC12A8_ENST00000393469.4_Silent_p.I122I			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	122					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						AGAGCAGCCCGATGGTGCCTC	0.627													14	72					0	0	0	0	A	124906105	G	A	124906105	2	1	21	1	0	0	0	0	0	0	0	1	14477	1048	37	1		1	SLC12A8	3	124906105	Silent	SNP	G	TCGA-BA-7269-01A-11D-2012-08	77743898	124906105	73116325	34	4434											
PLD1	5337	broad.mit.edu	37	chr3	171394572	171394572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgccttcccgtggactgcaGaggcaatgtcatgccagggc	7	7	13	14	2	1	1	1	0	0	1	2	2	2	2	4	3	2	2	4	3	1	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:171394572G>A	ENST00000356327.5	-	17	2004	c.1934C>T	c.(1933-1935)tCt>tTt	p.S645F	PLD1_ENST00000340989.4_Missense_Mutation_p.S683F|PLD1_ENST00000342215.6_Silent_p.L574L|PLD1_ENST00000351298.4_Missense_Mutation_p.S683F	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	683	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.S683F(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTGGACTGCAGAGGCAATGTC	0.532													8	81					0	0	0	0	A	171394572	G	A	171394572	3	1	21	1	0	0	0	0	1	0	0	0	12117	942	33	2	1216	2	PLD1	3	171394572	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	46488467	171394572	26627858	35	4435											
UGT2B4	7363	broad.mit.edu	37	chr4	70360857	70360857	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaatcaaaaaagttacttAcctagaacttcactgtagaa	18	10	4	9	0	2	2	2	0	0	2	2	2	2	2	2	0	3	2	2	0	10	5			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr4:70360857A>G	ENST00000305107.6	-	1	768		c.e1+1		UGT2B4_ENST00000381096.3_Splice_Site|UGT2B4_ENST00000512583.1_Splice_Site|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4						estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AAAGTTACTTACCTAGAACTT	0.333													8	17					0	0	0	0	G	70360857	A	G	70360857	5	3	21	1	0	0	0	0	0	0	1	0	17057	405	14	5	887	5	UGT2B4	4	70360857	Splice_Site	SNP	A	TCGA-BA-7269-01A-11D-2012-08		70360857	120793419	36	4436											
TBCK	93627	broad.mit.edu	37	chr4	107016738	107016738	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggtaagctccccttcTgcagtgaaggcagcactgaa	9	8	11	13	0	1	2	0	2	1	0	2	2	2	2	3	2	3	5	3	2	3	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr4:107016738T>G	ENST00000273980.4	-	26	2919	c.2472A>C	c.(2470-2472)gcA>gcC	p.A824A	TBCK_ENST00000394708.2_Silent_p.A824A|TBCK_ENST00000394706.3_Silent_p.A785A|TBCK_ENST00000432496.2_Silent_p.A824A|TBCK_ENST00000361687.4_Silent_p.A761A			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	824	Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GCTCCCCTTCTGCAGTGAAGG	0.468													11	45					0	0	0	0	G	107016738	T	G	107016738	2	3	21	1	0	0	0	0	0	0	0	1	15730	1567	55	5		5	TBCK	4	107016738	Silent	SNP	T	TCGA-BA-7269-01A-11D-2012-08	36655881	107016738	84137538	37	4437											
KIAA0922	23240	broad.mit.edu	37	chr4	154525199	154525199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagacttcacccctgggcaGctcactgcctgctgctaaag	9	8	9	15	0	2	1	2	0	0	1	2	1	2	1	3	1	4	4	3	1	2	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr4:154525199G>A	ENST00000409663.3	+	25	3084	c.3032G>A	c.(3031-3033)aGc>aAc	p.S1011N	KIAA0922_ENST00000440693.1_Missense_Mutation_p.S928N|KIAA0922_ENST00000409959.3_Missense_Mutation_p.S1012N	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1011						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCCCTGGGCAGCTCACTGCCT	0.502													13	67					0	0	0	0	A	154525199	G	A	154525199	3	1	21	1	0	0	0	0	1	0	0	0	8252	971	34	4	3133	4	KIAA0922	4	154525199	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	47508461	154525199	36629077	38	4438											
ADAM29	11086	broad.mit.edu	37	chr4	175898746	175898746	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttattgttttgtttattttAttatgttgtctttatcgact	6	26	5	4	1	1	0	0	0	1	0	2	1	1	0	0	0	0	3	0	0	5	12			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr4:175898746A>T	ENST00000359240.3	+	5	2740	c.2070A>T	c.(2068-2070)ttA>ttT	p.L690F	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.L690F|ADAM29_ENST00000404450.4_Missense_Mutation_p.L690F|ADAM29_ENST00000514159.1_Missense_Mutation_p.L690F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	690					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTTTATTTTATTATGTTGTC	0.343													9	19					0	0	0	0	T	175898746	A	T	175898746	3	4	21	1	0	0	0	0	1	0	0	0	247	446	16	5	2072	5	ADAM29	4	175898746	Missense_Mutation	SNP	A	TCGA-BA-7269-01A-11D-2012-08	21373547	175898746	15255530	39	4439											
FAT1	2195	broad.mit.edu	37	chr4	187628726	187628732	+	Frame_Shift_Del	DEL	CAGTTTT	CAGTTTT	-																															cctccagaaacagcatagacCagttttccattgaagccagt																										TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr4:187628726_187628732delCAGTTTT	ENST00000441802.2	-	2	2459_2465	c.2250_2256delAAAACTG	c.(2248-2256)ggfs	p.GKL750fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	750	Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGCATAGACCAGTTTTCCATTGAAGC	0.425										HNSCC(5;0.00058)			58	32	---	---	---	---					-	187628732	CAGTTTT	-	187628726	7	5	21	1	0	1	0	1	0	0	0	0	5734	581	21	0	11614	0	FAT1	4	187628726	Frame_Shift_Del	DEL	CAGTTTT	TCGA-BA-7269-01A-11D-2012-08	11729980	187628726	3525550	40	4440											
TTC37	9652	broad.mit.edu	37	chr5	94820469	94820469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagatattcttcctgtgtCtattagaccagtgacagctt	9	16	7	9	0	3	3	1	1	2	2	4	3	4	3	2	0	1	1	2	0	3	7			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr5:94820469C>G	ENST00000358746.2	-	38	4310	c.4012G>C	c.(4012-4014)Gac>Cac	p.D1338H		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1338							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CTTCCTGTGTCTATTAGACCA	0.348													18	25					0	0	0	0	G	94820469	C	G	94820469	3	3	21	1	0	0	0	0	1	0	0	0	16801	913	32	2	706	2	TTC37	5	94820469	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08		94820469	86094791	41	4441											
PCDHA12	56137	broad.mit.edu	37	chr5	140256690	140256690	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgacgccggcgtgccgcctCtgggcagcaacgtgacgctg	5	5	16	15	7	1	1	0	1	1	0	1	2	1	1	3	2	3	3	3	2	1	0			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr5:140256690C>G	ENST00000398631.2	+	1	1633	c.1633C>G	c.(1633-1635)Ctg>Gtg	p.L545V	PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCCGCCTCTGGGCAGCAA	0.697													36	79					0	0	0	0	G	140256690	C	G	140256690	3	3	21	1	0	0	0	0	1	0	0	0	11593	912	32	2	1635	2	PCDHA12	5	140256690	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	45436221	140256690	40658570	42	4442											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788292	140788292	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagattataagataaactctAatccttatttttcattaatg	16	17	3	5	0	2	2	1	0	1	2	3	2	3	2	1	0	1	0	1	0	8	8			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr5:140788292A>C	ENST00000520790.1	+	1	523	c.523A>C	c.(523-525)Aat>Cat	p.N175H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAAACTCTAATCCTTATTT	0.388													10	7					0	0	0	0	C	140788292	A	C	140788292	3	2	21	1	0	0	0	0	1	0	0	0	11638	362	13	5	525	5	PCDHGB6	5	140788292	Missense_Mutation	SNP	A	TCGA-BA-7269-01A-11D-2012-08	531602	140788292	40126968	43	4443											
FAM71B	153745	broad.mit.edu	37	chr5	156590665	156590665	+	Missense_Mutation	SNP	G	G	A																															ccccttctctgtggagctctGcagcctataccaaggggaag																										TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr5:156590665G>A	ENST00000302938.4	-	2	706	c.611C>T	c.(610-612)gCa>gTa	p.A204V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	204						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGAGCTCTGCAGCCTATAC	0.493													18	53					0	0	0	0	A	156590665	G	A	156590665	3	1	21	1	0	0	0	0	1	0	0	0	5654	1319	46	4	1210	4	FAM71B	5	156590665	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	15802373	156590665	24324595	44	4444	47	2									
FAM71B	153745	broad.mit.edu	37	chr5	156590666	156590666	+	Missense_Mutation	SNP	C	C	A																															cccttctctgtggagctctgCagcctataccaaggggaaga																										TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr5:156590666C>A	ENST00000302938.4	-	2	705	c.610G>T	c.(610-612)Gca>Tca	p.A204S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	204						nucleus		p.A204P(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAGCTCTGCAGCCTATACC	0.488													18	51					1.33834e-09	1.54249e-09	1	0	A	156590666	C	A	156590666	3	1	21	1	0	0	0	0	1	0	0	0	5654	710	25	4	1211	4	FAM71B	5	156590666	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	1	156590666	24324594	45	4445	47	2									
SCAND3	114821	broad.mit.edu	37	chr6	28540656	28540656	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcatggcaagactttCtcgatgaatgaagcaatgtg	11	15	9	6	1	2	3	1	2	1	1	3	4	2	3	0	1	1	2	0	1	4	4			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:28540656C>A	ENST00000452236.2	-	4	3627	c.3010G>T	c.(3010-3012)Gaa>Taa	p.E1004*		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1004					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gcaagactttctcgatgaatg	0.323													16	34					3.51602e-12	4.08699e-12	1	0	A	28540656	C	A	28540656	4	1	21	1	0	0	0	0	0	1	0	0	13962	922	32	2	971	2	SCAND3	6	28540656	Nonsense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08		28540656	142574411	46	4446											
OR2H1	26716	broad.mit.edu	37	chr6	29429639	29429639	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctttgtggttgtcttcacTtcctacctcttgaccctggt	3	18	7	13	0	4	1	1	1	3	0	5	1	5	1	3	2	1	1	3	2	1	6			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:29429639T>A	ENST00000377136.1	+	4	558	c.93T>A	c.(91-93)acT>acA	p.T31T	OR2H1_ENST00000377133.1_Silent_p.T31T|OR2H1_ENST00000396792.2_Silent_p.T31T|OR2H1_ENST00000377132.1_Silent_p.T31T|OR2H1_ENST00000473369.1_Intron|OR2H1_ENST00000442615.1_Silent_p.T31T			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						TTGTCTTCACTTCCTACCTCT	0.522													4	166					0	0	0	0	A	29429639	T	A	29429639	2	1	21	1	0	0	0	0	0	0	0	1	11072	1596	56	5		5	OR2H1	6	29429639	Silent	SNP	T	TCGA-BA-7269-01A-11D-2012-08	888983	29429639	141685428	47	4447											
ZFP57	346171	broad.mit.edu	37	chr6	29641487	29641487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcatcactagtccccTcatctctcagactgggatgt	7	13	7	14	0	5	1	4	0	1	1	7	2	6	2	3	1	0	0	3	1	1	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:29641487T>C	ENST00000376883.1	-	6	752	c.341A>G	c.(340-342)gAg>gGg	p.E114G	ZFP57_ENST00000376881.3_Missense_Mutation_p.E114G|ZFP57_ENST00000488757.1_Missense_Mutation_p.E134G			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	78			N -> S (in dbSNP:rs9461544).		DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						ACTAGTCCCCTCATCTCTCAG	0.512													3	142					0	0	0	0	C	29641487	T	C	29641487	3	2	21	1	0	0	0	0	1	0	0	0	17746	1551	54	5	1213	5	ZFP57	6	29641487	Missense_Mutation	SNP	T	TCGA-BA-7269-01A-11D-2012-08	211848	29641487	141473580	48	4448											
HLA-F	3134	broad.mit.edu	37	chr6	29692932	29692932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcgggatggggaggaacaGacccaggacacagagcttgt	12	4	16	9	1	0	2	0	0	0	2	0	6	0	6	1	5	3	1	1	5	1	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:29692932G>C	ENST00000440587.2	+	4	740	c.381G>C	c.(379-381)caG>caC	p.Q127H	HLA-F_ENST00000434407.2_Intron|HLA-F_ENST00000334668.4_Missense_Mutation_p.Q245H|HLA-F_ENST00000259951.7_Missense_Mutation_p.Q245H|HLA-F_ENST00000376861.1_Missense_Mutation_p.Q245H			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	245	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGGAGGAACAGACCCAGGACA	0.627													14	44					0	0	0	0	C	29692932	G	C	29692932	3	2	21	1	0	0	0	0	1	0	0	0	7261	933	33	2	749	2	HLA-F	6	29692932	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	51445	29692932	141422135	49	4449											
HLA-DMB	3109	broad.mit.edu	37	chr6	32906490	32906490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtcagtgatccccagaagGgctgggtgtgtgtggcacaa	8	9	16	8	0	1	2	1	1	0	1	2	2	2	2	2	4	0	2	2	4	2	0			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:32906490G>A	ENST00000416244.2	-	2	502	c.308C>T	c.(307-309)cCc>cTc	p.P103L	XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.P135L|HLA-DMB_ENST00000418107.2_Missense_Mutation_p.P103L			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	103	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCCCCAGAAGGGCTGGGTGTG	0.572													25	77					0	0	0	0	A	32906490	G	A	32906490	3	1	21	1	0	0	0	0	1	0	0	0	7249	1232	43	4	503	4	HLA-DMB	6	32906490	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	3213558	32906490	138208577	50	4450											
PEX6	5190	broad.mit.edu	37	chr6	42934376	42934376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctccccctcatcctcctCagtcaagccacctgccaaac	9	7	4	21	0	3	0	3	0	0	0	6	0	6	0	7	0	4	1	7	0	2	0			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:42934376C>T	ENST00000304611.8	-	10	2050	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	PEX6_ENST00000244546.4_Missense_Mutation_p.E661K	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	661					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCATCCTCCTCAGTCAAGCCA	0.597													32	128					0	0	0	0	T	42934376	C	T	42934376	3	4	21	1	0	0	0	0	1	0	0	0	11822	835	29	2	993	2	PEX6	6	42934376	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	10027886	42934376	128180691	51	4451											
ABCC10	89845	broad.mit.edu	37	chr6	43403844	43403844	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaacagattgtggtagattAggagcccaaatcaagtggct	14	9	11	7	0	1	2	1	0	0	2	1	3	1	3	1	3	2	2	1	3	5	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:43403844A>G	ENST00000244533.3	+	4	2009	c.1650A>G	c.(1648-1650)ttA>ttG	p.L550L	ABCC10_ENST00000372530.4_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	589	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTGGTAGATTAGGAGCCCAAA	0.488													3	151					0	0	0	0	G	43403844	A	G	43403844	2	3	21	1	0	0	0	0	0	0	0	1	50	417	15	5		5	ABCC10	6	43403844	Silent	SNP	A	TCGA-BA-7269-01A-11D-2012-08	469468	43403844	127711223	52	4452											
PAQR8	85315	broad.mit.edu	37	chr6	52268767	52268767	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtaccacaccctccagatCctcttcttcctggttagcgc	6	12	7	16	1	2	1	0	0	2	1	5	1	5	1	5	2	2	2	5	2	2	4			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:52268767C>A	ENST00000442253.2	+	2	930	c.756C>A	c.(754-756)atC>atA	p.I252I	PAQR8_ENST00000360726.3_Silent_p.I252I	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	252					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCCTCCAGATCCTCTTCTTCC	0.577													17	50					2.23348e-06	2.44963e-06	1	0	A	52268767	C	A	52268767	2	1	21	1	0	0	0	0	0	0	0	1	11512	845	30	2		2	PAQR8	6	52268767	Silent	SNP	C	TCGA-BA-7269-01A-11D-2012-08	8864923	52268767	118846300	53	4453											
GCM1	8521	broad.mit.edu	37	chr6	52993147	52993147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagaggcgtaggtgaagaGaaaggggtcttcttgaggtg	11	9	18	3	1	2	4	0	3	2	2	2	6	2	4	0	5	0	1	0	5	3	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:52993147G>A	ENST00000259803.7	-	6	1379	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	390						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TAGGTGAAGAGAAAGGGGTCT	0.443													13	269					0	0	0	0	A	52993147	G	A	52993147	3	1	21	1	0	0	0	0	1	0	0	0	6346	942	33	2	146	2	GCM1	6	52993147	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	724380	52993147	118121920	54	4454											
FBXL4	26235	broad.mit.edu	37	chr6	99374830	99374830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcatatataataaaacatgGtcagaactgttaacatggga	17	10	9	5	0	1	1	1	0	0	1	1	2	1	2	0	3	3	2	0	3	7	5			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:99374830G>C	ENST00000369244.2	-	4	463	c.35C>G	c.(34-36)aCc>aGc	p.T12S	FBXL4_ENST00000229971.1_Missense_Mutation_p.T12S			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	12					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATAAAACATGGTCAGAACTGT	0.433													15	75					0	0	0	0	C	99374830	G	C	99374830	3	2	21	1	0	0	0	0	1	0	0	0	5766	1261	44	4	1858	4	FBXL4	6	99374830	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	46381683	99374830	71740237	55	4455											
SIM1	6492	broad.mit.edu	37	chr6	100898154	100898154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcacctacctgagaaagacCcaagtggactgaggctgtct	11	8	10	12	0	2	3	1	2	1	2	2	5	2	4	3	2	1	1	3	2	3	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:100898154C>T	ENST00000369208.3	-	4	1119	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	SIM1_ENST00000262901.4_Missense_Mutation_p.G113S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	113	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGAGAAAGACCCAAGTGGACT	0.562													32	107					0	0	0	0	T	100898154	C	T	100898154	3	4	21	1	0	0	0	0	1	0	0	0	14411	623	22	4	1999	4	SIM1	6	100898154	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	1523324	100898154	70216913	56	4456											
LRP11	84918	broad.mit.edu	37	chr6	150174158	150174158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatgtccactgacgggTccccctgcagcagtgcccac	6	8	9	18	1	1	1	1	1	0	0	3	1	3	1	5	1	3	2	5	1	0	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:150174158T>C	ENST00000239367.2	-	2	757	c.752A>G	c.(751-753)gAc>gGc	p.D251G	LRP11_ENST00000367368.2_Missense_Mutation_p.D251G|LRP11_ENST00000546019.1_5'UTR	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	251	PKD.					integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CACTGACGGGTCCCCCTGCAG	0.542													4	54					0	0	0	0	C	150174158	T	C	150174158	3	2	21	1	0	0	0	0	1	0	0	0	9017	1667	58	5	774	5	LRP11	6	150174158	Missense_Mutation	SNP	T	TCGA-BA-7269-01A-11D-2012-08	49276004	150174158	20940909	57	4457											
SDK1	221935	broad.mit.edu	37	chr7	4249658	4249658	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtgttctattctcccagcCcctggggcccccagctttct	3	14	8	16	0	3	0	0	0	3	0	4	0	3	0	5	2	2	2	5	2	1	5			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:4249658C>T	ENST00000404826.2	+	38	5542	c.5401_splice	c.e38-1	p.A1801_splice	SDK1_ENST00000389531.3_Splice_Site_p.A1781_splice	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1801					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTCTCCCAGCCCCTGGGGCCC	0.522													4	118					0	0	0	0	T	4249658	C	T	4249658	5	4	21	1	0	0	0	0	0	0	1	0	14055	637	22	4	5553	4	SDK1	7	4249658	Splice_Site	SNP	C	TCGA-BA-7269-01A-11D-2012-08		4249658	154889005	58	4458											
EGFR	1956	broad.mit.edu	37	chr7	55210023	55210023	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacgcagttgggcacttttGaagatcattttctcagcctc	8	14	8	11	1	3	2	3	1	1	1	5	2	3	2	1	1	1	3	1	1	1	5			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:55210023G>C	ENST00000275493.2	+	2	310	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q	EGFR_ENST00000420316.2_Missense_Mutation_p.E45Q|EGFR_ENST00000454757.2_5'UTR|EGFR_ENST00000442591.1_Missense_Mutation_p.E45Q|EGFR_ENST00000342916.3_Missense_Mutation_p.E45Q|EGFR_ENST00000344576.2_Missense_Mutation_p.E45Q|EGFR_ENST00000455089.1_Missense_Mutation_p.E45Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	45					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGGCACTTTTGAAGATCATTT	0.398		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	350					0	0	0	0	C	55210023	G	C	55210023	3	2	21	1	0	0	0	0	1	0	0	0	5003	1291	45	2	139	2	EGFR	7	55210023	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	50960365	55210023	103928640	59	4459											
STEAP4	79689	broad.mit.edu	37	chr7	87910314	87910314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagagtacaaacagaaaaaaCccaagtattcccaaagccac	21	4	5	11	0	0	2	0	0	0	2	1	2	1	2	3	0	4	2	3	0	9	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:87910314C>T	ENST00000380079.4	-	4	1166	c.1065G>A	c.(1063-1065)ggG>ggA	p.G355G	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Silent_p.G179G|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	355	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ACAGAAAAAACCCAAGTATTC	0.408													19	34					0	0	0	0	T	87910314	C	T	87910314	2	4	21	1	0	0	0	0	0	0	0	1	15370	494	18	4		4	STEAP4	7	87910314	Silent	SNP	C	TCGA-BA-7269-01A-11D-2012-08	32700291	87910314	71228349	60	4460											
TRRAP	8295	broad.mit.edu	37	chr7	98608797	98608797	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttccggaagatgttcacCatccagctggctctgatagg	9	10	11	11	2	2	2	1	1	1	1	4	3	4	3	3	3	1	4	3	3	2	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:98608797C>A	ENST00000359863.4	+	70	11228	c.11019C>A	c.(11017-11019)acC>acA	p.T3673T	TRRAP_ENST00000355540.3_Silent_p.T3644T|TRRAP_ENST00000446306.3_Silent_p.T3662T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3673	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGATGTTCACCATCCAGCTGG	0.537													20	73					1.96895e-08	2.23147e-08	1	0	A	98608797	C	A	98608797	2	1	21	1	0	0	0	0	0	0	0	1	16696	581	21	4		4	TRRAP	7	98608797	Silent	SNP	C	TCGA-BA-7269-01A-11D-2012-08	10698483	98608797	60529866	61	4461											
FBXO24	26261	broad.mit.edu	37	chr7	100198322	100198322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccaggaccccggggggAtggcccaggcctgcgaggag	7	2	17	15	2	0	0	0	0	0	0	0	4	0	3	6	7	1	0	6	7	0	0			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:100198322A>G	ENST00000241071.6	+	10	1865	c.1543A>G	c.(1543-1545)Atg>Gtg	p.M515V	FBXO24_ENST00000468962.1_Missense_Mutation_p.M503V|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.M553V	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	515						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGGGGGGATGGCCCAGGC	0.662													3	50					0	0	0	0	G	100198322	A	G	100198322	3	3	21	1	0	0	0	0	1	0	0	0	5780	333	12	5	1738	5	FBXO24	7	100198322	Missense_Mutation	SNP	A	TCGA-BA-7269-01A-11D-2012-08	1589525	100198322	58940341	62	4462											
SLC35B4	84912	broad.mit.edu	37	chr7	133979789	133979789	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgacggtgagggaggcGcattctgtggtgaggataaa	10	8	18	5	3	1	3	0	3	1	0	1	5	1	5	0	5	1	1	0	5	2	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:133979789G>A	ENST00000378509.4	-	10	1091	c.792C>T	c.(790-792)tgC>tgT	p.C264C	SLC35B4_ENST00000466599.1_Intron	NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	264						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						TGAGGGAGGCGCATTCTGTGG	0.537													7	377					0	0	0	0	A	133979789	G	A	133979789	2	1	21	1	0	0	0	0	0	0	0	1	14666	1079	38	1		1	SLC35B4	7	133979789	Silent	SNP	G	TCGA-BA-7269-01A-11D-2012-08	33781467	133979789	25158874	63	4463											
CSMD1	64478	broad.mit.edu	37	chr8	3432474	3432474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggagccttaccttgtccGggtcggtggtggtgatgacc	4	10	17	10	3	0	2	0	2	0	0	2	3	1	3	4	6	2	0	4	6	1	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr8:3432474G>A	ENST00000602557.1	-	11	1895	c.1340C>T	c.(1339-1341)cCg>cTg	p.P447L	CSMD1_ENST00000539096.1_Missense_Mutation_p.P446L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P446L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P447L|CSMD1_ENST00000520002.1_Missense_Mutation_p.P447L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P447L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P446L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	447	CUB 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACCTTGTCCGGGTCGGTGGT	0.522													16	31					0	0	0	0	A	3432474	G	A	3432474	3	1	21	1	0	0	0	0	1	0	0	0	3976	1116	39	1	9414	1	CSMD1	8	3432474	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08		3432474	142931548	64	4464											
ADHFE1	137872	broad.mit.edu	37	chr8	67372555	67372555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttctaggagccgacacccGcactgccaggatccaagatg	10	7	10	14	2	2	1	0	0	2	1	3	4	3	3	4	2	2	1	4	2	2	2	rs144952353		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr8:67372555G>A	ENST00000396623.3	+	13	1206	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	C8orf46_ENST00000482608.2_3'UTR|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.R344H	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	392					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	p.R344H(1)		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)			GCCGACACCCGCACTGCCAGG	0.517											OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	155					0	0	0	0	A	67372555	G	A	67372555	3	1	21	1	0	0	0	0	1	0	0	0	314	1087	38	1	1225	1	ADHFE1	8	67372555	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	63940081	67372555	78991467	65	4465											
EXT1	2131	broad.mit.edu	37	chr8	118847731	118847731	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acggcagcttggttccaattAatcacttcagagaatggcaa	13	10	9	9	1	2	1	2	0	0	1	3	2	3	1	1	3	1	4	1	3	4	4			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr8:118847731A>T	ENST00000378204.2	-	3	1922	c.1116T>A	c.(1114-1116)atT>atA	p.I372I		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	372					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGTTCCAATTAATCACTTCAG	0.507			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				4	94					0	0	0	0	T	118847731	A	T	118847731	2	4	21	1	0	0	0	0	0	0	0	1	5361	358	13	5		5	EXT1	8	118847731	Silent	SNP	A	TCGA-BA-7269-01A-11D-2012-08	51475176	118847731	27516291	66	4466											
CDKN2A	1029	broad.mit.edu	37	chr9	21974678	21974678	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaccctctacccaccTggatcggcctccgaccgtaa	8	7	8	18	3	1	1	0	0	1	1	3	3	2	2	6	2	2	2	6	2	2	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr9:21974678T>C	ENST00000304494.5	-	1	419	c.150_splice	c.e1+1	p.Q50_splice	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Splice_Site_p.Q50_splice|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000579122.1_Splice_Site_p.Q50_splice|CDKN2A_ENST00000498124.1_Splice_Site_p.Q50_splice|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	50			Q -> R (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Q50R(1)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCTACCCACCTGGATCGGCCT	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			94	81					0	0	0	0	C	21974678	T	C	21974678	5	2	21	1	0	0	0	0	0	0	1	0	3190	1594	55	5	534	5	CDKN2A	9	21974678	Splice_Site	SNP	T	TCGA-BA-7269-01A-11D-2012-08		21974678	119238753	67	4467											
GCNT1	2650	broad.mit.edu	37	chr9	79117750	79117750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcctcagaatttctattgCattcatgtggacacaaaatc	13	13	6	9	0	3	1	2	0	1	1	4	2	3	2	1	1	2	1	1	1	4	4			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr9:79117750C>T	ENST00000442371.1	+	3	1392	c.453C>T	c.(451-453)tgC>tgT	p.C151C	GCNT1_ENST00000536223.1_Silent_p.C151C|GCNT1_ENST00000376730.4_Silent_p.C151C|GCNT1_ENST00000444201.2_Silent_p.C151C	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	151	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						ATTTCTATTGCATTCATGTGG	0.443													22	35					0	0	0	0	T	79117750	C	T	79117750	2	4	21	1	0	0	0	0	0	0	0	1	6349	718	25	4		4	GCNT1	9	79117750	Silent	SNP	C	TCGA-BA-7269-01A-11D-2012-08	57143072	79117750	62095681	68	4468											
NOL8	55035	broad.mit.edu	37	chr9	95064013	95064013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgtagtttggaatatttCtttcagatccatagcaatat	11	19	6	5	0	2	1	1	0	1	1	3	2	3	2	1	1	1	3	1	1	6	9			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr9:95064013C>G	ENST00000545558.1	-	13	3487	c.2995G>C	c.(2995-2997)Gaa>Caa	p.E999Q	NOL8_ENST00000358855.4_Missense_Mutation_p.E931Q|NOL8_ENST00000542053.1_Missense_Mutation_p.E931Q|NOL8_ENST00000442668.2_Missense_Mutation_p.E999Q|NOL8_ENST00000535387.1_Missense_Mutation_p.E961Q			Q76FK4	NOL8_HUMAN	nucleolar protein 8	999					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGGAATATTTCTTTCAGATCC	0.388													5	11					0	0	0	0	G	95064013	C	G	95064013	3	3	21	1	0	0	0	0	1	0	0	0	10597	922	32	2	528	2	NOL8	9	95064013	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	15946263	95064013	46149418	69	4469											
PCGF5	84333	broad.mit.edu	37	chr10	93038049	93038049	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccctatggtactgcagtaTcgaccaagaattgatttcgg	11	12	9	9	2	0	2	0	1	0	1	2	3	0	2	2	2	3	3	2	2	6	6			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr10:93038049T>G	ENST00000336126.5	+	10	979	c.747T>G	c.(745-747)taT>taG	p.Y249*	PCGF5_ENST00000543648.1_Nonsense_Mutation_p.Y249*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						TACTGCAGTATCGACCAAGAA	0.358													4	24					0	0	0	0	G	93038049	T	G	93038049	4	3	21	1	0	0	0	0	0	1	0	0	11648	1442	50	5	781	5	PCGF5	10	93038049	Nonsense_Mutation	SNP	T	TCGA-BA-7269-01A-11D-2012-08		93038049	42496698	70	4470											
IDE	3416	broad.mit.edu	37	chr10	94294475	94294475	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttagggtatttctttgtTcccaaaaaaagcatatgttc	11	17	6	7	0	2	0	0	0	2	0	4	0	3	0	1	1	1	4	1	1	6	8			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr10:94294475T>C	ENST00000265986.6	-	3	407	c.351A>G	c.(349-351)ggA>ggG	p.G117G		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	117					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTTCTTTGTTCCCAAAAAAA	0.348													28	36					0	0	0	0	C	94294475	T	C	94294475	2	2	21	1	0	0	0	0	0	0	0	1	7546	1770	62	5		5	IDE	10	94294475	Silent	SNP	T	TCGA-BA-7269-01A-11D-2012-08	1256426	94294475	41240272	71	4471											
CALHM1	255022	broad.mit.edu	37	chr10	105218230	105218230	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatgtagcgcaacacagcGgggtccttggcccggcggcc	8	5	14	14	4	0	0	0	0	0	0	1	0	1	0	3	5	4	2	3	5	3	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr10:105218230G>A	ENST00000329905.5	-	1	415	c.279C>T	c.(277-279)ccC>ccT	p.P93P	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	93						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GCAACACAGCGGGGTCCTTGG	0.642													17	26					0	0	0	0	A	105218230	G	A	105218230	2	1	21	1	0	0	0	0	0	0	0	1	2607	1103	39	1		1	CALHM1	10	105218230	Silent	SNP	G	TCGA-BA-7269-01A-11D-2012-08	10923755	105218230	30316517	72	4472											
VENTX	27287	broad.mit.edu	37	chr10	135053283	135053283	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcttccagcaccaccagtaCctgagccctctggagcggaa	9	7	10	15	1	2	1	0	1	2	0	3	3	3	3	5	2	4	2	5	2	2	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr10:135053283C>G	ENST00000325980.9	+	2	856	c.345C>G	c.(343-345)taC>taG	p.Y115*		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	115					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		ACCACCAGTACCTGAGCCCTC	0.662													27	33					0	0	0	0	G	135053283	C	G	135053283	4	3	21	1	0	0	0	0	0	1	0	0	17249	518	18	4	351	4	VENTX	10	135053283	Nonsense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	29835053	135053283	481464	73	4473											
AHNAK	79026	broad.mit.edu	37	chr11	62296954	62296954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggccttgaaatgcatCtcaggcatcttaaacttggg	9	12	12	8	0	2	1	1	1	2	0	3	1	2	1	1	4	2	2	1	4	3	4			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr11:62296954C>A	ENST00000378024.4	-	5	5209	c.4935G>T	c.(4933-4935)gaG>gaT	p.E1645D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1645					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGAAATGCATCTCAGGCATCT	0.468													71	224					8.73484e-25	1.09994e-24	1	0	A	62296954	C	A	62296954	3	1	21	1	0	0	0	0	1	0	0	0	414	912	32	2	12857	2	AHNAK	11	62296954	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08		62296954	72709562	74	4474											
RTN3	10313	broad.mit.edu	37	chr11	63488185	63488185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccagtagcatctcttgaCttagaacaagaacagctcac	14	9	6	12	0	2	3	1	1	1	2	4	3	3	3	1	0	4	3	1	0	5	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr11:63488185C>A	ENST00000377819.5	+	3	2365	c.2211C>A	c.(2209-2211)gaC>gaA	p.D737E	RTN3_ENST00000339997.4_Missense_Mutation_p.D718E|RTN3_ENST00000540798.1_Missense_Mutation_p.D625E|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	737					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATCTCTTGACTTAGAACAAG	0.423													17	26					5.3912e-06	5.86563e-06	1	0	A	63488185	C	A	63488185	3	1	21	1	0	0	0	0	1	0	0	0	13812	564	20	4	2221	4	RTN3	11	63488185	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	1191231	63488185	71518331	75	4475											
PTPN6	5777	broad.mit.edu	37	chr12	7065324	7065324	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgaccacagccgagtgatCctgcagggacgggacagtaa	11	6	14	10	2	0	2	0	2	0	0	1	5	1	4	3	2	2	3	3	2	1	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr12:7065324C>T	ENST00000456013.1	+	8	1106	c.864C>T	c.(862-864)atC>atT	p.I288I	PTPN6_ENST00000447931.2_Silent_p.I249I|PTPN6_ENST00000318974.9_Silent_p.I288I|PTPN6_ENST00000399448.1_Silent_p.I290I	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	288	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GCCGAGTGATCCTGCAGGGAC	0.612													14	34					0	0	0	0	T	7065324	C	T	7065324	2	4	21	1	0	0	0	0	0	0	0	1	12874	845	30	2		2	PTPN6	12	7065324	Silent	SNP	C	TCGA-BA-7269-01A-11D-2012-08		7065324	126786571	76	4476											
USP15	9958	broad.mit.edu	37	chr12	62715344	62715344	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taacacatttgaaccactgaAtaaaccagacagcaccattc	17	8	4	12	0	0	3	0	2	0	1	1	3	0	3	3	0	4	1	3	0	5	4			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr12:62715344A>G	ENST00000280377.5	+	5	633	c.575A>G	c.(574-576)aAt>aGt	p.N192S	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.N192S|USP15_ENST00000393654.3_Missense_Mutation_p.N192S|USP15_ENST00000312635.6_Missense_Mutation_p.N192S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	192					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAACCACTGAATAAACCAGAC	0.338													8	19					0	0	0	0	G	62715344	A	G	62715344	3	3	21	1	0	0	0	0	1	0	0	0	17142	101	4	5	593	5	USP15	12	62715344	Missense_Mutation	SNP	A	TCGA-BA-7269-01A-11D-2012-08	55650020	62715344	71136551	77	4477											
E2F7	144455	broad.mit.edu	37	chr12	77439832	77439832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actcacaagagggacagtcgGgttcagagaaatccagtaac	15	6	11	9	1	2	2	2	0	0	2	4	4	3	3	1	2	1	2	1	2	3	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr12:77439832G>T	ENST00000322886.7	-	5	1050	c.815C>A	c.(814-816)cCc>cAc	p.P272H	E2F7_ENST00000416496.2_Missense_Mutation_p.P272H	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	272					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GGGACAGTCGGGTTCAGAGAA	0.433													12	34					0.000978159	0.00101549	1	0	T	77439832	G	T	77439832	3	4	21	1	0	0	0	0	1	0	0	0	4908	1232	43	4	1956	4	E2F7	12	77439832	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	14724488	77439832	56412063	78	4478											
SACS	26278	broad.mit.edu	37	chr13	23942586	23942586	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcttctcaaaatgtccttGagaaaatcaacaagtggtgg	14	12	8	7	0	3	1	2	1	2	1	5	2	4	1	1	2	1	0	1	2	7	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr13:23942586G>C	ENST00000382298.3	-	5	888	c.300C>G	c.(298-300)ctC>ctG	p.L100L	SACS_ENST00000382292.3_Silent_p.L100L|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	100					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAATGTCCTTGAGAAAATCAA	0.373													5	13					0	0	0	0	C	23942586	G	C	23942586	2	2	21	1	0	0	0	0	0	0	0	1	13889	1277	45	2		2	SACS	13	23942586	Silent	SNP	G	TCGA-BA-7269-01A-11D-2012-08		23942586	91227292	79	4479											
KLHL1	57626	broad.mit.edu	37	chr13	70549922	70549922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtgtcattgaatggccGgttgatgacagcctataaac	11	11	12	7	1	1	4	1	4	0	0	1	4	1	4	2	3	2	1	2	3	4	4			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr13:70549922G>A	ENST00000377844.4	-	2	1269	c.510C>T	c.(508-510)acC>acT	p.T170T	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	170					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTGAATGGCCGGTTGATGACA	0.378													3	30					0	0	0	0	A	70549922	G	A	70549922	2	1	21	1	0	0	0	0	0	0	0	1	8417	1103	39	1		1	KLHL1	13	70549922	Silent	SNP	G	TCGA-BA-7269-01A-11D-2012-08	46607336	70549922	44619956	80	4480											
ARHGAP5	394	broad.mit.edu	37	chr14	32560503	32560516	+	Frame_Shift_Del	DEL	AGAGAAGTTCAGGC	AGAGAAGTTCAGGC	-																															aatgcgtggatcattatcttAgagaagttcaggcatttgct																										TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr14:32560503_32560516delAGAGAAGTTCAGGC	ENST00000345122.3	+	2	943_956	c.628_641delAGAGAAGTTCAGGC	c.(628-642)afs	p.REVQA210fs	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.REVQA210fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.REVQA210fs|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.REVQA210fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	210					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TCATTATCTTAGAGAAGTTCAGGCATTTGCTTCA	0.322													9	58	---	---	---	---					-	32560516	AGAGAAGTTCAGGC	-	32560503	7	5	21	1	0	1	0	1	0	0	0	0	888	412	15	0	630	0	ARHGAP5	14	32560503	Frame_Shift_Del	DEL	AGAGAAGTTCAGGC	TCGA-BA-7269-01A-11D-2012-08		32560503	74789037	81	4481											
CLEC14A	161198	broad.mit.edu	37	chr14	38724915	38724915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaaaggctcgttctccaGggtgcagtgggaacgcctgc	7	7	14	13	3	1	0	0	0	1	0	3	1	1	1	3	3	3	4	3	3	2	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr14:38724915G>A	ENST00000342213.2	-	1	659	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	105	C-type lectin.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCGTTCTCCAGGGTGCAGTGG	0.692													3	8					0	0	0	0	A	38724915	G	A	38724915	2	1	21	1	0	0	0	0	0	0	0	1	3529	991	35	4		4	CLEC14A	14	38724915	Silent	SNP	G	TCGA-BA-7269-01A-11D-2012-08	6164412	38724915	68624625	82	4482											
FLRT2	23768	broad.mit.edu	37	chr14	86088851	86088851	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaatatatcccttcatcTctcaacgtgcggggtttcat	9	14	6	12	2	5	0	4	0	1	0	7	0	6	0	1	2	2	1	1	2	4	4			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr14:86088851T>C	ENST00000330753.4	+	2	1760	c.993T>C	c.(991-993)tcT>tcC	p.S331S	FLRT2_ENST00000554746.1_Silent_p.S331S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	331	LRRCT.				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)		TCCCTTCATCTCTCAACGTGC	0.488													38	216					0	0	0	0	C	86088851	T	C	86088851	2	2	21	1	0	0	0	0	0	0	0	1	5984	1538	54	5		5	FLRT2	14	86088851	Silent	SNP	T	TCGA-BA-7269-01A-11D-2012-08	47363936	86088851	21260689	83	4483											
MAP1A	4130	broad.mit.edu	37	chr15	43821107	43821107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctagtaggaagaggggggcGgcgccgggtaggggggccag	7	3	24	7	3	0	1	0	0	0	1	0	2	0	2	2	9	0	3	2	9	4	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr15:43821107G>A	ENST00000382031.1	+	5	8181	c.8150G>A	c.(8149-8151)cGg>cAg	p.R2717Q	MAP1A_ENST00000300231.5_Missense_Mutation_p.R2479Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2479Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2479						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGGGGGGCGGCGCCGGGTA	0.622													17	33					0	0	0	0	A	43821107	G	A	43821107	3	1	21	1	0	0	0	0	1	0	0	0	9296	1116	39	1	7438	1	MAP1A	15	43821107	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08		43821107	58710285	84	4484											
ANKS3	124401	broad.mit.edu	37	chr16	4774826	4774826	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagggagtaaatccacatatCggctccctgcaagatgtggg	12	8	12	9	1	0	1	0	0	0	1	3	2	2	2	2	3	1	3	2	3	5	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:4774826C>T	ENST00000304283.4	-	6	792	c.498G>A	c.(496-498)ccG>ccA	p.P166P	ANKS3_ENST00000592711.1_Silent_p.P59P|ANKS3_ENST00000585773.1_Silent_p.P93P|ANKS3_ENST00000446014.2_Silent_p.P37P|ANKS3_ENST00000450067.2_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	166										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ATCCACATATCGGCTCCCTGC	0.488													6	16					0	0	0	0	T	4774826	C	T	4774826	2	4	21	1	0	0	0	0	0	0	0	1	689	871	31	1		1	ANKS3	16	4774826	Silent	SNP	C	TCGA-BA-7269-01A-11D-2012-08		4774826	85579927	85	4485											
C16orf71	146562	broad.mit.edu	37	chr16	4793097	4793097	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagtctggcgggacaagaAgacaaccagggaaatcgtgc	14	4	14	9	2	1	3	0	0	1	3	2	5	1	5	1	3	2	0	1	3	4	0			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:4793097A>C	ENST00000299320.5	+	5	1315	c.837A>C	c.(835-837)gaA>gaC	p.E279D	C16orf71_ENST00000590191.1_Missense_Mutation_p.E293D|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	279										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CGGGACAAGAAGACAACCAGG	0.527													28	52					0	0	0	0	C	4793097	A	C	4793097	3	2	21	1	0	0	0	0	1	0	0	0	1843	69	3	5	851	5	C16orf71	16	4793097	Missense_Mutation	SNP	A	TCGA-BA-7269-01A-11D-2012-08	18271	4793097	85561656	86	4486											
NFATC2IP	84901	broad.mit.edu	37	chr16	28975123	28975123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatgggacaaagctttcagGcagggagctgccagctgacc	10	7	14	10	0	1	2	1	2	0	0	1	4	1	4	2	3	4	4	2	3	1	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:28975123G>T	ENST00000320805.4	+	8	1274	c.1199G>T	c.(1198-1200)gGc>gTc	p.G400V	NFATC2IP_ENST00000564978.1_Missense_Mutation_p.G121V|RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000568148.1_Missense_Mutation_p.G108V	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	400	Ubiquitin-like.					cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						AAGCTTTCAGGCAGGGAGCTG	0.587													9	29					0.000442599	0.000463027	1	0	T	28975123	G	T	28975123	3	4	21	1	0	0	0	0	1	0	0	0	10433	1203	42	4	1229	4	NFATC2IP	16	28975123	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	24182026	28975123	61379630	87	4487											
CDH11	1009	broad.mit.edu	37	chr16	64984856	64984856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgctgatcactatgggcaGaaggtacaagtcctgcttct	10	11	10	10	1	2	2	1	1	1	1	4	2	3	2	1	2	2	4	1	2	4	3	rs142957030		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:64984856G>A	ENST00000394156.3	-	12	2161	c.1708C>T	c.(1708-1710)Ctg>Ttg	p.L570L	CDH11_ENST00000268603.4_Silent_p.L570L|CDH11_ENST00000566827.1_Silent_p.L444L			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	570	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACTATGGGCAGAAGGTACAAG	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			15	33					0	0	0	0	A	64984856	G	A	64984856	2	1	21	1	0	0	0	0	0	0	0	1	3126	933	33	2		2	CDH11	16	64984856	Silent	SNP	G	TCGA-BA-7269-01A-11D-2012-08	36009733	64984856	25369897	88	4488											
RANBP10	57610	broad.mit.edu	37	chr16	67761784	67761784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccccgcagagctgccgcCgaggatgcctgtcatctgca	6	7	12	16	3	2	1	1	0	1	1	2	3	2	2	5	1	5	3	5	1	0	0			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:67761784C>T	ENST00000317506.3	-	12	1605	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	RANBP10_ENST00000602677.1_Missense_Mutation_p.R527Q|RANBP10_ENST00000411657.2_Missense_Mutation_p.R410Q|RANBP10_ENST00000536251.1_Missense_Mutation_p.R268Q|RANBP10_ENST00000448631.2_Missense_Mutation_p.R471Q	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	497										endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GAGCTGCCGCCGAGGATGCCT	0.622													12	29					0	0	0	0	T	67761784	C	T	67761784	3	4	21	1	0	0	0	0	1	0	0	0	13108	652	23	1	384	1	RANBP10	16	67761784	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	2776928	67761784	22592969	89	4489											
TP53	7157	broad.mit.edu	37	chr17	7578180	7578181	+	Frame_Shift_Ins	INS	-	-	T																															cagttgcaaaccagacctcaINSggcggctcatagggcaccac																								rs138983188		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr17:7578180_7578181insT	ENST00000420246.2	-	6	800_801	c.668_669insA	c.(667-669)cgafs	p.R223fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.R223fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.R223fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.R223fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.R223fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Ins_p.R223fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	223	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(12)|p.0?(8)|p.P223P(4)|p.P223L(4)|p.P223H(2)|p.Y220_P223delYEPP(1)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P223R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCAGACCTCAGGCGGCTCATA	0.54		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	20	---	---	---	---					T	7578181	-	T	7578180	7	5	21	1	0	1	1	0	0	0	0	0	16476	175	7	0	625	0	TP53	17	7578180	Frame_Shift_Ins	INS	-	TCGA-BA-7269-01A-11D-2012-08		7578180	73617030	90	4490											
RAI1	10743	broad.mit.edu	37	chr17	17697704	17697704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcataaaagccagcactGcagccccgaagggagcggct	12	3	13	13	2	0	0	0	0	0	0	0	2	0	1	3	2	6	5	3	2	3	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr17:17697704G>T	ENST00000353383.1	+	3	1911	c.1442G>T	c.(1441-1443)tGc>tTc	p.C481F	RAI1_ENST00000261641.6_Missense_Mutation_p.C481F	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	481						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGCCAGCACTGCAGCCCCGAA	0.652													19	66					4.63292e-17	5.527e-17	1	0	T	17697704	G	T	17697704	3	4	21	1	0	0	0	0	1	0	0	0	13089	1319	46	4	1444	4	RAI1	17	17697704	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	10119524	17697704	63497506	91	4491											
CDC6	990	broad.mit.edu	37	chr17	38450241	38450241	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggatcaactggacagcaaAggccaggatgtattgtacac	14	8	11	8	0	1	0	1	0	0	0	1	3	1	3	1	4	3	3	1	4	4	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr17:38450241A>G	ENST00000209728.4	+	6	1347	c.876A>G	c.(874-876)aaA>aaG	p.K292K		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	292					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TGGACAGCAAAGGCCAGGATG	0.393													24	79					0	0	0	0	G	38450241	A	G	38450241	2	3	21	1	0	0	0	0	0	0	0	1	3112	69	3	5		5	CDC6	17	38450241	Silent	SNP	A	TCGA-BA-7269-01A-11D-2012-08	20752537	38450241	42744969	92	4492											
DSEL	92126	broad.mit.edu	37	chr18	65180850	65180850	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccataaaaccaattataattGgaatctgctatacccacagt	16	11	4	10	0	1	0	0	0	1	0	1	1	1	1	3	1	3	1	3	1	8	6			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr18:65180850G>T	ENST00000310045.7	-	2	2499	c.1026C>A	c.(1024-1026)tcC>tcA	p.S342S	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	332						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AATTATAATTGGAATCTGCTA	0.363													13	56					4.3838e-07	4.88686e-07	1	0	T	65180850	G	T	65180850	2	4	21	1	0	0	0	0	0	0	0	1	4811	1335	47	4		4	DSEL	18	65180850	Silent	SNP	G	TCGA-BA-7269-01A-11D-2012-08		65180850	12896398	93	4493											
KEAP1	9817	broad.mit.edu	37	chr19	10597411	10597411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccactccggcccgatgTcattcgggtcacctcgctcc	5	8	8	20	4	2	0	2	0	0	0	6	1	4	0	6	2	0	1	6	2	0	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:10597411T>C	ENST00000171111.5	-	6	2339	c.1792A>G	c.(1792-1794)Aca>Gca	p.T598A	KEAP1_ENST00000393623.2_Missense_Mutation_p.T598A	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGGCCCGATGTCATTCGGGTC	0.567													47	44					0	0	0	0	C	10597411	T	C	10597411	3	2	21	1	0	0	0	0	1	0	0	0	8193	1667	58	5	86	5	KEAP1	19	10597411	Missense_Mutation	SNP	T	TCGA-BA-7269-01A-11D-2012-08		10597411	48531572	94	4494											
ZNF709	163051	broad.mit.edu	37	chr19	12575387	12575387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctttaccacactgtttaCattcatagggtttctctcca	9	15	6	11	0	2	0	1	0	1	0	4	0	3	0	2	2	2	3	2	2	3	7			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:12575387C>A	ENST00000397732.3	-	4	1520	c.1349G>T	c.(1348-1350)tGt>tTt	p.C450F	ZNF709_ENST00000428311.1_Missense_Mutation_p.C450F|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						ACACTGTTTACATTCATAGGG	0.403													27	82					4.87955e-14	5.7706e-14	1	0	A	12575387	C	A	12575387	3	1	21	1	0	0	0	0	1	0	0	0	18208	478	17	4	580	4	ZNF709	19	12575387	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	1977976	12575387	46553596	95	4495											
ZNF302	55900	broad.mit.edu	37	chr19	35175566	35175566	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatgcagtgaatgtgggaaAgcctttggcaaacagtcaat	14	9	11	7	0	1	1	1	1	0	0	1	2	1	2	1	2	3	2	1	2	4	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:35175566A>G	ENST00000505242.1	+	5	1118	c.624A>G	c.(622-624)aaA>aaG	p.K208K	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000446502.2_Silent_p.K252K|ZNF302_ENST00000457781.2_Silent_p.K208K|ZNF302_ENST00000423823.2_Silent_p.K208K			Q9NR11	ZN302_HUMAN	zinc finger protein 302	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AATGTGGGAAAGCCTTTGGCA	0.438													54	60					0	0	0	0	G	35175566	A	G	35175566	2	3	21	1	0	0	0	0	0	0	0	1	17927	69	3	5		5	ZNF302	19	35175566	Silent	SNP	A	TCGA-BA-7269-01A-11D-2012-08	22600179	35175566	23953417	96	4496											
AXL	558	broad.mit.edu	37	chr19	41749592	41749592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcgcaagtcctacagtcGtcggaccactgaagctacct	9	8	10	14	4	0	1	0	1	0	0	3	2	1	2	3	1	4	2	3	1	4	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:41749592G>A	ENST00000301178.4	+	12	1707	c.1517G>A	c.(1516-1518)cGt>cAt	p.R506H	AXL_ENST00000593513.1_Missense_Mutation_p.R238H|AXL_ENST00000359092.3_Missense_Mutation_p.R497H	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	506						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TCCTACAGTCGTCGGACCACT	0.562													38	72					0	0	0	0	A	41749592	G	A	41749592	3	1	21	1	0	0	0	0	1	0	0	0	1242	1145	40	1	1563	1	AXL	19	41749592	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	6574026	41749592	17379391	97	4497											
SLC8A2	6543	broad.mit.edu	37	chr19	47941206	47941206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccgagcctcctcctcctcgGctgttagcttcctgtcccca	3	12	7	19	2	0	0	0	0	0	0	7	1	6	0	8	1	2	3	8	1	1	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:47941206G>A	ENST00000236877.6	-	7	2305	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Missense_Mutation_p.A393V|SLC8A2_ENST00000539381.1_Missense_Mutation_p.A100V	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	637					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTCCTCCTCGGCTGTTAGCTT	0.567													27	101					0	0	0	0	A	47941206	G	A	47941206	3	1	21	1	0	0	0	0	1	0	0	0	14795	1203	42	4	871	4	SLC8A2	19	47941206	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	6191614	47941206	11187777	98	4498											
SIGLEC11	114132	broad.mit.edu	37	chr19	50463939	50463939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaggagcagctccctttGccgggatccccagtgagctg	8	7	12	14	1	0	1	0	1	0	0	2	3	2	3	5	2	4	3	5	2	1	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:50463939G>A	ENST00000447370.2	-	2	420	c.330C>T	c.(328-330)ggC>ggT	p.G110G	SIGLEC11_ENST00000426971.2_Silent_p.G110G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	110	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGCTCCCTTTGCCGGGATCCC	0.587													11	87					0	0	0	0	A	50463939	G	A	50463939	2	1	21	1	0	0	0	0	0	0	0	1	14395	1306	46	4		4	SIGLEC11	19	50463939	Silent	SNP	G	TCGA-BA-7269-01A-11D-2012-08	2522733	50463939	8665044	99	4499											
NDUFA3	4696	broad.mit.edu	37	chr19	54611775	54611775	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagggccacaggatagaGctcagctcccactccactca	13	5	9	14	0	2	1	2	0	0	1	4	3	4	2	3	2	2	2	3	2	3	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:54611775G>A	ENST00000391764.3	+	4	202	c.192G>A	c.(190-192)gaG>gaA	p.E64E	TFPT_ENST00000391757.1_Intron|TFPT_ENST00000391758.1_Intron|TFPT_ENST00000391759.1_Intron			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	65					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	ACAGGATAGAGCTCAGCTCCC	0.592													6	34					0	0	0	0	A	54611775	G	A	54611775	2	1	21	1	0	0	0	0	0	0	0	1	10335	986	34	4		4	NDUFA3	19	54611775	Silent	SNP	G	TCGA-BA-7269-01A-11D-2012-08	4147836	54611775	4517208	100	4500											
BRSK1	84446	broad.mit.edu	37	chr19	55823324	55823324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgctggtgccccaccccGaagcctgcagcccccacccg	5	4	10	22	2	0	0	0	0	0	0	0	1	0	0	9	1	5	2	9	1	1	0			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:55823324G>A	ENST00000309383.1	+	19	2502	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q	BRSK1_ENST00000326848.7_Missense_Mutation_p.R437Q|BRSK1_ENST00000590333.1_Missense_Mutation_p.R758Q	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	742					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCCCACCCCGAAGCCTGCAG	0.697													5	17					0	0	0	0	A	55823324	G	A	55823324	3	1	21	1	0	0	0	0	1	0	0	0	1531	1058	37	1	2299	1	BRSK1	19	55823324	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	1211549	55823324	3305659	101	4501											
SLC23A2	9962	broad.mit.edu	37	chr20	4880210	4880210	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaatctcacctgcatccaAacgttgtctgtagcaaagta	12	10	6	13	1	2	0	1	0	2	0	4	0	3	0	3	0	3	5	3	0	5	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr20:4880210A>G	ENST00000379333.1	-	6	865	c.473T>C	c.(472-474)tTt>tCt	p.F158S	SLC23A2_ENST00000338244.1_Missense_Mutation_p.F158S|SLC23A2_ENST00000424750.2_Missense_Mutation_p.F158S|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	158					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCTGCATCCAAACGTTGTCTG	0.552													71	176					0	0	0	0	G	4880210	A	G	4880210	3	3	21	1	0	0	0	0	1	0	0	0	14551	14	1	5	1527	5	SLC23A2	20	4880210	Missense_Mutation	SNP	A	TCGA-BA-7269-01A-11D-2012-08		4880210	58145310	102	4502											
XRN2	22803	broad.mit.edu	37	chr20	21312236	21312236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgctcctggtgaaggagAacataaaatcatggattaca	15	10	10	6	0	1	2	1	1	0	1	2	4	2	3	1	3	3	1	1	3	6	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr20:21312236A>G	ENST00000377191.3	+	7	709	c.614A>G	c.(613-615)gAa>gGa	p.E205G	XRN2_ENST00000430571.2_Missense_Mutation_p.E129G|XRN2_ENST00000539513.1_Missense_Mutation_p.E151G	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	205					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GGTGAAGGAGAACATAAAATC	0.289													16	36					0	0	0	0	G	21312236	A	G	21312236	3	3	21	1	0	0	0	0	1	0	0	0	17556	246	9	5	640	5	XRN2	20	21312236	Missense_Mutation	SNP	A	TCGA-BA-7269-01A-11D-2012-08	16432026	21312236	41713284	103	4503											
MRPL39	54148	broad.mit.edu	37	chr21	26978860	26978860	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttctatcttctcagttcGgggagttaatgataactgcc	10	14	8	9	1	3	1	1	1	3	0	5	2	3	2	1	2	3	2	1	2	4	6			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr21:26978860G>C	ENST00000307301.7	-	2	222	c.181C>G	c.(181-183)Cga>Gga	p.R61G	MRPL39_ENST00000352957.4_Missense_Mutation_p.R61G	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	61						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TTCTCAGTTCGGGGAGTTAAT	0.433													10	40					0	0	0	0	C	26978860	G	C	26978860	3	2	21	1	0	0	0	0	1	0	0	0	9872	1124	39	3	964	3	MRPL39	21	26978860	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08		26978860	21151035	104	4504											
APP	351	broad.mit.edu	37	chr21	27394285	27394285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcaccatcctcatcgtcctCgtcatcatcggcttcttctt	6	15	4	16	3	6	0	4	0	2	0	11	0	8	0	3	1	0	1	3	1	0	3	rs147485129		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr21:27394285C>T	ENST00000358918.3	-	6	935	c.736G>A	c.(736-738)Gag>Aag	p.E246K	APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_Missense_Mutation_p.E246K|APP_ENST00000357903.3_Missense_Mutation_p.E246K|APP_ENST00000354192.3_Missense_Mutation_p.E190K|APP_ENST00000348990.5_Missense_Mutation_p.E246K|APP_ENST00000448388.2_Missense_Mutation_p.E211K|APP_ENST00000346798.3_Missense_Mutation_p.E246K|APP_ENST00000440126.3_Missense_Mutation_p.E241K|APP_ENST00000439274.2_Missense_Mutation_p.E190K	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	246	Asp/Glu-rich (acidic).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				tcatcgtcctcgtcatcatcg	0.502													9	35					0	0	0	0	T	27394285	C	T	27394285	3	4	21	1	0	0	0	0	1	0	0	0	817	893	31	1	1628	1	APP	21	27394285	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	415425	27394285	20735610	105	4505											
NEFH	4744	broad.mit.edu	37	chr22	29879403	29879403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcagccaaggtgaacaCagacgctatgcgctcagcgc	11	4	14	12	3	1	2	1	1	0	1	1	3	1	3	1	3	4	3	1	3	3	1			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr22:29879403C>T	ENST00000310624.6	+	2	956	c.923C>T	c.(922-924)aCa>aTa	p.T308I		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	308	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGGTGAACACAGACGCTATG	0.597													56	271					0	0	0	0	T	29879403	C	T	29879403	3	4	21	1	0	0	0	0	1	0	0	0	10384	478	17	4	929	4	NEFH	22	29879403	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08		29879403	21425163	106	4506											
SSTR3	6753	broad.mit.edu	37	chr22	37603361	37603361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacagccgcgctgaccgtgCgggccaccggagctgtgcgc	6	4	15	16	6	0	1	0	1	0	0	0	2	0	2	4	2	4	2	4	2	0	0			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr22:37603361C>T	ENST00000328544.3	-	2	1015	c.482G>A	c.(481-483)cGc>cAc	p.R161H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R161H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	161					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCTGACCGTGCGGGCCACCGG	0.682													53	59					0	0	0	0	T	37603361	C	T	37603361	3	4	21	1	0	0	0	0	1	0	0	0	15289	768	27	1	778	1	SSTR3	22	37603361	Missense_Mutation	SNP	C	TCGA-BA-7269-01A-11D-2012-08	7723958	37603361	13701205	107	4507											
APOBEC3B	9582	broad.mit.edu	37	chr22	39387518	39387518	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccttcaggagaacacacAcgtgagactgcgcatcttcg	10	9	10	12	3	2	2	1	1	1	2	4	4	3	2	1	1	2	2	1	1	1	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr22:39387518A>G	ENST00000402182.3	+	6	960	c.905A>G	c.(904-906)cAc>cGc	p.H302R	APOBEC3B_ENST00000333467.3_Missense_Mutation_p.H302R|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.H277R			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	302					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GAGAACACACACGTGAGACTG	0.597													14	212					0	0	0	0	G	39387518	A	G	39387518	3	3	21	1	0	0	0	0	1	0	0	0	792	159	6	5	927	5	APOBEC3B	22	39387518	Missense_Mutation	SNP	A	TCGA-BA-7269-01A-11D-2012-08	1784157	39387518	11917048	108	4508											
DMD	1756	broad.mit.edu	37	chrX	31854842	31854842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgcttcattaccttcactGgctgagtggctggtttttcc	4	17	10	10	0	2	1	2	1	0	0	3	1	3	1	2	3	2	5	2	3	1	6			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chrX:31854842G>T	ENST00000357033.4	-	49	7399	c.7193C>A	c.(7192-7194)cCa>cAa	p.P2398Q	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.P2394Q|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2398					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACCTTCACTGGCTGAGTGGC	0.423													23	16					1.36565e-18	1.67322e-18	1	0	T	31854842	G	T	31854842	3	4	21	1	0	0	0	0	1	0	0	0	4617	1348	47	4	4136	4	DMD	23	31854842	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08		31854842	123415718	109	4509											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-																															gctgcggctgggcgggacgcGcagcagcagcagcagcagca																								rs72445954		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	SRPX_ENST00000343800.6_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6	---	---	---	---					-	38079978	GCA	-	38079976	7	5	21	1	0	1	0	1	0	0	0	0	15254	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-BA-7269-01A-11D-2012-08	6225134	38079976	117190584	110	4510											
CSTF2	1478	broad.mit.edu	37	chrX	100078983	100078983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgatgagaattgtggatccgGaaattgccctggtgagtgct	9	12	14	6	1	0	3	0	3	0	1	1	6	1	5	2	3	2	1	2	3	2	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chrX:100078983G>A	ENST00000415585.2	+	5	575	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	CSTF2_ENST00000486615.1_Intron|CSTF2_ENST00000372972.2_Missense_Mutation_p.E185K			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	185	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TGTGGATCCGGAAATTGCCCT	0.468													23	45					0	0	0	0	A	100078983	G	A	100078983	3	1	21	1	0	0	0	0	1	0	0	0	4016	1175	41	2	571	2	CSTF2	23	100078983	Missense_Mutation	SNP	G	TCGA-BA-7269-01A-11D-2012-08	61999007	100078983	55191577	111	4511											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685719	125685719	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctggatagtgcgctcccGgctttccacaggtggaagta	8	9	13	11	2	0	0	0	0	0	0	2	2	2	2	3	4	2	3	3	4	3	3			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chrX:125685719G>A	ENST00000371126.1	-	1	1115	c.873C>T	c.(871-873)gcC>gcT	p.A291A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	291										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GTGCGCTCCCGGCTTTCCACA	0.607													15	30					0	0	0	0	A	125685719	G	A	125685719	2	1	21	1	0	0	0	0	0	0	0	1	4297	1103	39	1		1	DCAF12L1	23	125685719	Silent	SNP	G	TCGA-BA-7269-01A-11D-2012-08	25606736	125685719	29584841	112	4512											
ZNF185	7739	broad.mit.edu	37	chrX	152113985	152113985	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcggatctgagcaacttgtCagacgagagagttgtggcag	11	8	15	7	2	2	3	1	1	1	2	2	6	2	4	0	2	3	3	0	2	1	2			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chrX:152113985C>T	ENST00000535861.1	+	17	1527	c.1479C>T	c.(1477-1479)gtC>gtT	p.V493V	ZNF185_ENST00000370270.1_Silent_p.V224V|ZNF185_ENST00000370268.4_Silent_p.V461V|ZNF185_ENST00000324823.6_Silent_p.V229V|ZNF185_ENST00000539731.1_Silent_p.V464V|ZNF185_ENST00000449285.2_Silent_p.V462V|ZNF185_ENST00000318504.7_Silent_p.V402V|ZNF185_ENST00000318529.8_Silent_p.V240V	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	461						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAACTTGTCAGACGAGAGA	0.607													6	3					0	0	0	0	T	152113985	C	T	152113985	2	4	21	1	0	0	0	0	0	0	0	1	17847	813	29	2		2	ZNF185	23	152113985	Silent	SNP	C	TCGA-BA-7269-01A-11D-2012-08	26428266	152113985	3156575	113	4513											
VPS13D	55187	broad.mit.edu	37	chr1	12321202	12321202	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagtggattcctgaagagatCctgggtacggtgggagctgg	8	9	17	7	1	0	2	0	1	0	1	2	5	2	4	2	5	2	2	2	5	2	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr1:12321202C>G	ENST00000358136.3	+	12	1540	c.1410C>G	c.(1408-1410)atC>atG	p.I470M	VPS13D_ENST00000356315.4_Missense_Mutation_p.I470M	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	470					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTGAAGAGATCCTGGGTACGG	0.478													31	169					0	0	0	0	G	12321202	C	G	12321202	3	3	22	1	0	0	0	0	1	0	0	0	17288	845	30	2	1452	2	VPS13D	1	12321202	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08		12321202	236929419	1	4514											
NBPF1	55672	broad.mit.edu	37	chr1	16890496	16890496	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagacttgttcccatcaaaGtaagaaacctattgtccacg	13	10	8	10	1	1	2	1	0	0	2	3	3	3	2	3	1	1	2	3	1	4	5			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr1:16890496G>C	ENST00000430580.2	-	29	4249	c.3362C>G	c.(3361-3363)aCt>aGt	p.T1121S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	0	NBPF 8.|Poly-Arg.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCCCATCAAAGTAAGAAACCT	0.473													47	895					0	0	0	0	C	16890496	G	C	16890496	3	2	22	1	0	0	0	0	1	0	0	0	10262	1029	36	4	61	4	NBPF1	1	16890496	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	4569294	16890496	232360125	2	4515											
LDLRAP1	26119	broad.mit.edu	37	chr1	25883713	25883713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcgcccagagccagcacaaCcagagcctcgagtgccacgc	11	3	10	17	3	0	2	0	0	0	2	2	3	0	2	5	0	5	1	5	0	1	0			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr1:25883713C>A	ENST00000374338.4	+	4	533	c.414C>A	c.(412-414)aaC>aaA	p.N138K	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	138	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGCACAACCAGAGCCTCG	0.602													30	82					1.61788e-16	1.78349e-16	1	0	A	25883713	C	A	25883713	3	1	22	1	0	0	0	0	1	0	0	0	8761	506	18	4	428	4	LDLRAP1	1	25883713	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	8993217	25883713	223366908	3	4516											
SSX2IP	117178	broad.mit.edu	37	chr1	85116066	85116066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgttcagatatgcaggaaCgtgtctggcaaaagtctgaa	13	11	11	6	1	3	2	1	1	2	1	3	3	3	3	0	2	2	3	0	2	6	3			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr1:85116066C>A	ENST00000437941.2	-	12	1920	c.1568G>T	c.(1567-1569)cGt>cTt	p.R523L	SSX2IP_ENST00000370612.4_Missense_Mutation_p.R550L|SSX2IP_ENST00000603677.1_Missense_Mutation_p.R69L|SSX2IP_ENST00000605755.1_Missense_Mutation_p.R523L|SSX2IP_ENST00000342203.3_Missense_Mutation_p.R550L	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	550					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TATGCAGGAACGTGTCTGGCA	0.413													32	154					2.61193e-14	2.8568e-14	1	0	A	85116066	C	A	85116066	3	1	22	1	0	0	0	0	1	0	0	0	15294	536	19	3	203	3	SSX2IP	1	85116066	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	59232353	85116066	164134555	4	4517											
RWDD3	25950	broad.mit.edu	37	chr1	95709957	95709957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttacttgagcaagcagaGagccttttgtcggagcctat	11	12	10	8	1	0	2	0	1	0	1	1	4	0	3	2	1	5	2	2	1	4	6			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr1:95709957G>A	ENST00000429514.2	+	3	437	c.231G>A	c.(229-231)gaG>gaA	p.E77E	RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000370202.4_Silent_p.E92E|RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000263893.6_Silent_p.E92E|RP11-57H12.6_ENST00000604534.1_3'UTR			Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	92	RWD.					cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AGCAAGCAGAGAGCCTTTTGT	0.468													23	67					0	0	0	0	A	95709957	G	A	95709957	2	1	22	1	0	0	0	0	0	0	0	1	13842	933	33	2		2	RWDD3	1	95709957	Silent	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	10593891	95709957	153540664	5	4518											
WARS2	10352	broad.mit.edu	37	chr1	119575875	119575875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttgcggaatttctgcaCtatctcctctgggctgtctg	5	14	10	12	1	4	0	0	0	4	0	5	1	4	1	2	2	3	2	2	2	2	3			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr1:119575875C>A	ENST00000235521.4	-	6	768	c.742G>T	c.(742-744)Gtg>Ttg	p.V248L	WARS2_ENST00000537870.1_Missense_Mutation_p.V154L|WARS2_ENST00000369426.5_3'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	248					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AATTTCTGCACTATCTCCTCT	0.552													38	103					6.03168e-27	7.0961e-27	1	0	A	119575875	C	A	119575875	3	1	22	1	0	0	0	0	1	0	0	0	17346	565	20	4	344	4	WARS2	1	119575875	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	23865918	119575875	129674746	6	4519											
ADAM30	11085	broad.mit.edu	37	chr1	120437244	120437244	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgagtagaaattatagtCgtatgctctggcaaatcagg	15	11	10	5	1	2	2	1	1	1	1	3	2	2	2	0	2	1	4	0	2	7	4	rs145951922	byFrequency	TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr1:120437244C>A	ENST00000369400.1	-	1	1874	c.1716G>T	c.(1714-1716)acG>acT	p.T572T		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	572	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAATTATAGTCGTATGCTCTG	0.398													4	187					1	1	1	0	A	120437244	C	A	120437244	2	1	22	1	0	0	0	0	0	0	0	1	248	871	31	3		3	ADAM30	1	120437244	Silent	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	861369	120437244	128813377	7	4520											
HIST3H3	8290	broad.mit.edu	37	chr1	228612821	228612821	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctcgcgcatcagccgcTggaagggcaacttgcggatt	8	8	13	12	5	2	0	1	0	1	0	3	3	2	2	1	3	3	3	1	3	2	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr1:228612821T>A	ENST00000366696.1	-	1	205	c.206A>T	c.(205-207)cAg>cTg	p.Q69L		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	69					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				CATCAGCCGCTGGAAGGGCAA	0.642													66	161					0	0	0	0	A	228612821	T	A	228612821	3	1	22	1	0	0	0	0	1	0	0	0	7234	1580	55	5	208	5	HIST3H3	1	228612821	Missense_Mutation	SNP	T	TCGA-BA-A4IF-01A-11D-A25Y-08	108175577	228612821	20637800	8	4521											
TRIM58	25893	broad.mit.edu	37	chr1	248039556	248039556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccaactggaaagtcctcGctgcattgggattttcttgg	7	14	10	10	1	2	0	0	0	2	0	5	2	3	2	2	3	2	2	2	3	2	4			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr1:248039556G>T	ENST00000366481.3	+	6	1274	c.1226G>T	c.(1225-1227)cGc>cTc	p.R409L	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	409	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAAAGTCCTCGCTGCATTGGG	0.478													56	131					5.39261e-20	6.13793e-20	1	0	T	248039556	G	T	248039556	3	4	22	1	0	0	0	0	1	0	0	0	16626	1087	38	3	1248	3	TRIM58	1	248039556	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	19426735	248039556	1211065	9	4522											
NRXN1	9378	broad.mit.edu	37	chr2	51255135	51255135	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagcgcagaagatggagaAgctgagctgcaggcggccgc	10	4	16	11	3	1	4	1	1	0	3	1	5	1	4	1	3	4	4	1	3	2	0			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr2:51255135A>T	ENST00000404971.1	-	2	1616	c.277T>A	c.(277-279)Ttc>Atc	p.F93I	NRXN1_ENST00000406316.2_Missense_Mutation_p.F93I|NRXN1_ENST00000406859.3_Missense_Mutation_p.F93I|NRXN1_ENST00000405472.3_Missense_Mutation_p.F93I|NRXN1_ENST00000402717.3_Missense_Mutation_p.F93I|NRXN1_ENST00000405581.1_Missense_Mutation_p.F93I|NRXN1_ENST00000401669.2_Missense_Mutation_p.F93I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	93	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAGATGGAGAAGCTGAGCTGC	0.682													5	35					0	0	0	0	T	51255135	A	T	51255135	3	4	22	1	0	0	0	0	1	0	0	0	10736	72	3	5	4721	5	NRXN1	2	51255135	Missense_Mutation	SNP	A	TCGA-BA-A4IF-01A-11D-A25Y-08		51255135	191944238	10	4523											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105883845	105883845	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggccaagcttttcaagTccgagtgccaggactggatg	8	10	13	10	1	1	0	1	0	0	0	2	3	2	2	3	3	2	1	3	3	2	3			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr2:105883845T>A	ENST00000393359.2	-	12	3004	c.2578A>T	c.(2578-2580)Act>Tct	p.T860S	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.T860S			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	860					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCTTTTCAAGTCCGAGTGCCA	0.557													17	87					0	0	0	0	A	105883845	T	A	105883845	3	1	22	1	0	0	0	0	1	0	0	0	15918	1667	58	5	8	5	TGFBRAP1	2	105883845	Missense_Mutation	SNP	T	TCGA-BA-A4IF-01A-11D-A25Y-08	54628710	105883845	137315528	11	4524											
SLC5A7	60482	broad.mit.edu	37	chr2	108608643	108608643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctagcttgggctcaggCaccaattggatattctctta	8	13	10	10	0	2	0	1	0	1	0	3	1	2	1	2	4	1	3	2	4	4	6			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr2:108608643C>T	ENST00000264047.2	+	3	536	c.260C>T	c.(259-261)gCa>gTa	p.A87V	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A87V|SLC5A7_ENST00000540517.1_5'UTR	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	87					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGGCTCAGGCACCAATTGGA	0.413													13	53					0	0	0	0	T	108608643	C	T	108608643	3	4	22	1	0	0	0	0	1	0	0	0	14758	710	25	4	266	4	SLC5A7	2	108608643	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	2724798	108608643	134590730	12	4525											
EPB41L5	57669	broad.mit.edu	37	chr2	120847933	120847933	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttcagggcaaagaacAggaacatacatttgtcttta	13	14	7	7	0	3	1	1	0	2	1	3	2	3	2	0	2	3	1	0	2	5	6			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr2:120847933A>C	ENST00000263713.5	+	12	1098	c.884A>C	c.(883-885)cAg>cCg	p.Q295P	EPB41L5_ENST00000443124.1_Missense_Mutation_p.Q295P|EPB41L5_ENST00000443902.2_Missense_Mutation_p.Q295P|EPB41L5_ENST00000331393.4_Missense_Mutation_p.Q295P|EPB41L5_ENST00000452780.1_Missense_Mutation_p.Q295P	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	295	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GGCAAAGAACAGGAACATACA	0.373													7	94					0	0	0	0	C	120847933	A	C	120847933	3	2	22	1	0	0	0	0	1	0	0	0	5195	188	7	5	926	5	EPB41L5	2	120847933	Missense_Mutation	SNP	A	TCGA-BA-A4IF-01A-11D-A25Y-08	12239290	120847933	122351440	13	4526											
NR4A2	4929	broad.mit.edu	37	chr2	157186571	157186571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgttggtgaggtccatgCtaaacttgacaaactctgga	11	11	11	8	0	1	2	0	2	1	0	2	3	2	3	1	3	3	2	1	3	3	3			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr2:157186571C>T	ENST00000339562.4	-	3	490	c.128G>A	c.(127-129)aGc>aAc	p.S43N	NR4A2_ENST00000426264.1_Intron|NR4A2_ENST00000409572.1_Missense_Mutation_p.S43N|NR4A2_ENST00000409108.2_Missense_Mutation_p.S43N|NR4A2_ENST00000539077.1_Missense_Mutation_p.S54N|NR4A2_ENST00000429376.1_Intron	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	43					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GAGGTCCATGCTAAACTTGAC	0.512													33	58					0	0	0	0	T	157186571	C	T	157186571	3	4	22	1	0	0	0	0	1	0	0	0	10704	797	28	4	1692	4	NR4A2	2	157186571	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	36338638	157186571	86012802	14	4527											
HECW2	57520	broad.mit.edu	37	chr2	197297889	197297889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaatccaatcactggggtCcacctcctctttaatgtccc	8	12	5	16	0	2	0	1	0	1	0	7	0	7	0	6	2	0	0	6	2	3	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr2:197297889C>A	ENST00000260983.2	-	2	441	c.259G>T	c.(259-261)Gac>Tac	p.D87Y		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	87					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCACTGGGGTCCACCTCCTCT	0.463													7	67					5.18039e-06	5.37226e-06	1	0	A	197297889	C	A	197297889	3	1	22	1	0	0	0	0	1	0	0	0	7093	855	30	2	4571	2	HECW2	2	197297889	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	40111318	197297889	45901484	15	4528											
NBEAL1	65065	broad.mit.edu	37	chr2	204032068	204032068	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccaatccaactactttctCaatttcaaaaaagaggtatg	16	11	5	9	0	2	1	2	0	1	1	4	2	3	1	2	1	2	1	2	1	8	4			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr2:204032068C>T	ENST00000449802.1	+	37	6228	c.5895C>T	c.(5893-5895)ctC>ctT	p.L1965L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1965							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACTACTTTCTCAATTTCAAAA	0.383													62	80					0	0	0	0	T	204032068	C	T	204032068	2	4	22	1	0	0	0	0	0	0	0	1	10258	813	29	2		2	NBEAL1	2	204032068	Silent	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	6734179	204032068	39167305	16	4529											
GOLGA4	2803	broad.mit.edu	37	chr3	37365649	37365649	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaggcattaaaagatcaaAttaatcaacttgagcttctc	17	11	6	7	0	3	3	2	1	1	2	4	3	3	3	0	1	2	2	0	1	6	4			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr3:37365649A>G	ENST00000361924.2	+	14	2646	c.2272A>G	c.(2272-2274)Att>Gtt	p.I758V	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.I780V	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	758	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAAAGATCAAATTAATCAACT	0.383													13	64					0	0	0	0	G	37365649	A	G	37365649	3	3	22	1	0	0	0	0	1	0	0	0	6606	101	4	5	2396	5	GOLGA4	3	37365649	Missense_Mutation	SNP	A	TCGA-BA-A4IF-01A-11D-A25Y-08		37365649	160656781	17	4530											
QARS	5859	broad.mit.edu	37	chr3	49137075	49137075	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaaagccagaagtaggaaGagcgtctggggtgggagagt	12	6	18	5	1	1	3	0	0	1	3	1	5	1	4	1	4	3	2	1	4	4	1			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr3:49137075G>C	ENST00000306125.6	-	16	1731	c.1394C>G	c.(1393-1395)tCt>tGt	p.S465C	QARS_ENST00000414533.1_Missense_Mutation_p.S454C			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	465					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GAAGTAGGAAGAGCGTCTGGG	0.572													7	59					0	0	0	0	C	49137075	G	C	49137075	3	2	22	1	0	0	0	0	1	0	0	0	12953	942	33	2	969	2	QARS	3	49137075	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	11771426	49137075	148885355	18	4531											
EPHA6	285220	broad.mit.edu	37	chr3	97251229	97251229	+	Frame_Shift_Del	DEL	G	G	-																															tggagaagtctgtagtgggcGtttgaagacaccagggaaaa																										TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr3:97251229delG	ENST00000389672.5	+	11	2266	c.2228delG	c.(2227-2229)ctfs	p.R743fs	EPHA6_ENST00000502694.1_Frame_Shift_Del_p.R135fs|EPHA6_ENST00000514100.1_Frame_Shift_Del_p.R135fs|EPHA6_ENST00000442602.2_Frame_Shift_Del_p.R109fs	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	648	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGTAGTGGGCGTTTGAAGACA	0.388													12	172	---	---	---	---					-	97251229	G	-	97251229	7	5	22	1	0	1	0	1	0	0	0	0	5209	1145	40	0	2338	0	EPHA6	3	97251229	Frame_Shift_Del	DEL	G	TCGA-BA-A4IF-01A-11D-A25Y-08	48114154	97251229	100771201	19	4532											
ST3GAL6	10402	broad.mit.edu	37	chr3	98510706	98510706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctaaacacccaacaacaGgaattattgccatcacattg	17	8	4	12	0	1	0	1	0	0	0	1	1	1	1	3	1	5	0	3	1	7	4			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr3:98510706G>A	ENST00000265261.6	+	9	846	c.424G>A	c.(424-426)Gga>Aga	p.G142R	ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.G260R|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.G260R	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	260					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CCCAACAACAGGAATTATTGC	0.388													4	207					0	0	0	0	A	98510706	G	A	98510706	3	1	22	1	0	0	0	0	1	0	0	0	15309	1001	35	4	808	4	ST3GAL6	3	98510706	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	1259477	98510706	99511724	20	4533											
IMPG2	50939	broad.mit.edu	37	chr3	100963310	100963310	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtggttcagcgctcttcTctgatgaagtctcactccat	8	13	8	12	1	4	2	2	2	3	0	7	2	5	2	1	1	1	2	1	1	1	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr3:100963310T>C	ENST00000193391.7	-	13	2052	c.1865A>G	c.(1864-1866)gAg>gGg	p.E622G		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	622					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGCGCTCTTCTCTGATGAAGT	0.433													17	195					0	0	0	0	C	100963310	T	C	100963310	3	2	22	1	0	0	0	0	1	0	0	0	7782	1551	54	5	1888	5	IMPG2	3	100963310	Missense_Mutation	SNP	T	TCGA-BA-A4IF-01A-11D-A25Y-08	2452604	100963310	97059120	21	4534											
ACAD11	84129	broad.mit.edu	37	chr3	132378464	132378464	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctgtactgggcaatggtCagcgtagcctcacgttcggc	7	10	12	12	3	2	0	2	0	0	0	3	0	2	0	2	3	4	4	2	3	4	4			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr3:132378464C>T	ENST00000264990.6	-	1	1103	c.132G>A	c.(130-132)ctG>ctA	p.L44L	UBA5_ENST00000264991.4_Intron|ACAD11_ENST00000355458.3_Silent_p.L44L|UBA5_ENST00000356232.4_5'UTR|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Silent_p.L44L|ACAD11_ENST00000489991.1_5'UTR	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GGGCAATGGTCAGCGTAGCCT	0.537											OREG0015804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	86					0	0	0	0	T	132378464	C	T	132378464	2	4	22	1	0	0	0	0	0	0	0	1	109	813	29	2		2	ACAD11	3	132378464	Silent	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	31415154	132378464	65643966	22	4535											
MME	4311	broad.mit.edu	37	chr3	154802023	154802023	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagccaaagaagaaacagCgatggactccactggagatc	17	4	10	10	1	0	3	0	0	0	3	2	6	1	4	2	2	3	0	2	2	4	0	rs150836510		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr3:154802023C>T	ENST00000460393.1	+	2	187	c.67C>T	c.(67-69)Cga>Tga	p.R23*	MME_ENST00000462745.1_Nonsense_Mutation_p.R23*|MME_ENST00000382989.3_Nonsense_Mutation_p.R23*|MME_ENST00000360490.2_Nonsense_Mutation_p.R23*|MME_ENST00000493237.1_Nonsense_Mutation_p.R23*|MME_ENST00000492661.1_Nonsense_Mutation_p.R23*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	23					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R23*(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GAAGAAACAGCGATGGACTCC	0.433													20	202					0	0	0	0	T	154802023	C	T	154802023	4	4	22	1	0	0	0	0	0	1	0	0	9714	760	27	1	69	1	MME	3	154802023	Nonsense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	22423559	154802023	43220407	23	4536											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			28	25					0	0	0	0	A	178936091	G	A	178936091	3	1	22	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	24134068	178936091	19086339	24	4537											
KIAA0232	9778	broad.mit.edu	37	chr4	6863455	6863455	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatcagtgcatggtctttGtatcagcaacaataatcttc	12	14	7	8	0	4	1	2	1	2	0	5	1	4	1	0	1	3	3	0	1	5	4			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr4:6863455G>C	ENST00000307659.5	+	7	1801	c.1346G>C	c.(1345-1347)tGt>tCt	p.C449S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.C449S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	449							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CATGGTCTTTGTATCAGCAAC	0.383													22	46					0	0	0	0	C	6863455	G	C	6863455	3	2	22	1	0	0	0	0	1	0	0	0	8214	1377	48	4	1364	4	KIAA0232	4	6863455	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08		6863455	184290821	25	4538											
HNRNPD	3184	broad.mit.edu	37	chr4	83279847	83279847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagtactcccttattttctCttcaggtgtatctggagaaa	11	15	7	8	0	3	1	1	0	2	1	5	2	4	1	1	2	1	2	1	2	5	6			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr4:83279847C>G	ENST00000313899.7	-	4	863	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	HNRNPD_ENST00000543098.1_Missense_Mutation_p.E144Q|HNRNPD_ENST00000541060.1_Missense_Mutation_p.E42Q|HNRNPD_ENST00000353341.4_Missense_Mutation_p.E196Q|HNRNPD_ENST00000352301.4_Missense_Mutation_p.E177Q	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	196	RRM 2.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CTTATTTTCTCTTCAGGTGTA	0.378													33	49					0	0	0	0	G	83279847	C	G	83279847	3	3	22	1	0	0	0	0	1	0	0	0	7314	922	32	2	501	2	HNRNPD	4	83279847	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	76416392	83279847	107874429	26	4539											
CLDN22	53842	broad.mit.edu	37	chr4	184241063	184241063	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctccaattctcaaacaGtccaggccaaacccagagac	13	7	5	16	0	2	1	1	0	2	1	6	2	4	1	4	1	2	0	4	1	3	1			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr4:184241063G>C	ENST00000323319.5	-	1	864	c.309C>G	c.(307-309)gaC>gaG	p.D103E	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	103					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTCTCAAACAGTCCAGGCCAA	0.552													9	31					0	0	0	0	C	184241063	G	C	184241063	3	2	22	1	0	0	0	0	1	0	0	0	3513	1020	36	4	357	4	CLDN22	4	184241063	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	100961216	184241063	6913213	27	4540											
FAT1	2195	broad.mit.edu	37	chr4	187628173	187628173	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttctggaagatcctctcGgactttcacacgataattag	10	13	7	11	2	3	1	1	0	2	1	6	4	5	3	2	2	0	0	2	2	3	4			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr4:187628173G>A	ENST00000441802.2	-	2	3018	c.2809C>T	c.(2809-2811)Cga>Tga	p.R937*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	937	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGATCCTCTCGGACTTTCACA	0.468										HNSCC(5;0.00058)			113	170					0	0	0	0	A	187628173	G	A	187628173	4	1	22	1	0	0	0	0	0	1	0	0	5734	1124	39	1	11061	1	FAT1	4	187628173	Nonsense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	3387110	187628173	3526103	28	4541											
HSPB3	8988	broad.mit.edu	37	chr5	53751746	53751746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcctgggccaaccatcGtggacctgaggaaaaccagg	11	5	12	13	1	0	1	0	1	0	0	1	3	0	3	5	4	3	0	5	4	3	0			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr5:53751746G>T	ENST00000302005.1	+	1	302	c.127G>T	c.(127-129)Gtg>Ttg	p.V43L		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	43					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				GCCAACCATCGTGGACCTGAG	0.552													8	82					5.18039e-06	5.37226e-06	1	0	T	53751746	G	T	53751746	3	4	22	1	0	0	0	0	1	0	0	0	7473	1145	40	3	129	3	HSPB3	5	53751746	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08		53751746	127163514	29	4542											
MAP1B	4131	broad.mit.edu	37	chr5	71491772	71491772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctggagctaatcgaagacGaagagaaactgaaggaaact	18	5	12	6	2	0	3	0	1	0	2	1	8	0	5	0	2	4	2	0	2	6	1			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr5:71491772G>A	ENST00000296755.7	+	5	2888	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	864						microtubule|microtubule associated complex	structural molecule activity	p.E864K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AATCGAAGACGAAGAGAAACT	0.493													133	132					0	0	0	0	A	71491772	G	A	71491772	3	1	22	1	0	0	0	0	1	0	0	0	9297	1059	37	1	2608	1	MAP1B	5	71491772	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	17740026	71491772	109423488	30	4543											
PCDHB8	56128	broad.mit.edu	37	chr5	140558302	140558302	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatctggcactgctcaggtCtacattgaagttgtcgatgt	9	13	11	8	1	3	2	1	1	2	1	4	3	3	2	0	2	2	3	0	2	2	3			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr5:140558302C>G	ENST00000239444.2	+	1	932	c.687C>G	c.(685-687)gtC>gtG	p.V229V		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		229	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V229V(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCTCAGGTCTACATTGAAG	0.512													92	322					0	0	0	0	G	140558302	C	G	140558302	2	3	22	1	0	0	0	0	0	0	0	1	11619	900	32	2		2	PCDHB8	5	140558302	Silent	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	69066530	140558302	40356958	31	4544											
PCDHB16	57717	broad.mit.edu	37	chr5	140564100	140564100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctccgcgctcggccaccGccacgctgcacgtgctcctg	4	6	11	20	6	0	0	0	0	0	0	3	0	2	0	6	1	3	4	6	1	0	0			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr5:140564100G>A	ENST00000361016.2	+	1	3121	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		656	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A656T(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.706													75	67					0	0	0	0	A	140564100	G	A	140564100	3	1	22	1	0	0	0	0	1	0	0	0	11612	1087	38	1	1968	1	PCDHB16	5	140564100	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	5798	140564100	40351160	32	4545											
FAT2	2196	broad.mit.edu	37	chr5	150901065	150901065	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgatggatgctagctcctGaaactcgtagaaggttccag	11	10	12	8	1	0	3	0	2	0	1	3	5	2	4	2	2	3	4	2	2	4	3			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr5:150901065G>A	ENST00000261800.5	-	18	11101	c.11089C>T	c.(11089-11091)Cag>Tag	p.Q3697*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3697					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTAGCTCCTGAAACTCGTAG	0.582													59	51					0	0	0	0	A	150901065	G	A	150901065	4	1	22	1	0	0	0	0	0	1	0	0	5735	1299	45	2	1984	2	FAT2	5	150901065	Nonsense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	10336965	150901065	30014195	33	4546											
NSD1	64324	broad.mit.edu	37	chr5	176687017	176687017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgctgtgtccgctgtcCtgtggcataccacgccaatg	6	10	12	13	3	0	0	0	0	0	0	2	1	2	0	4	1	2	3	4	1	2	1			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr5:176687017C>T	ENST00000439151.2	+	14	5039	c.4994C>T	c.(4993-4995)cCt>cTt	p.P1665L	NSD1_ENST00000361032.4_Missense_Mutation_p.P1562L|NSD1_ENST00000354179.4_Missense_Mutation_p.P1396L|NSD1_ENST00000347982.4_Missense_Mutation_p.P1396L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1665					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTCCGCTGTCCTGTGGCATAC	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			63	62					0	0	0	0	T	176687017	C	T	176687017	3	4	22	1	0	0	0	0	1	0	0	0	10740	681	24	4	5044	4	NSD1	5	176687017	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	25785952	176687017	4228243	34	4547											
TRIM7	81786	broad.mit.edu	37	chr5	180627055	180627055	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggaactctgcccccacCttctcctgctccgctgccat	4	10	7	20	1	2	0	0	0	2	0	4	1	3	1	7	1	4	2	7	1	1	1			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr5:180627055C>T	ENST00000393315.1	-	3	718	c.21G>A	c.(19-21)aaG>aaA	p.K7K	CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000361809.3_Silent_p.K7K|CTC-338M12.6_ENST00000511517.1_RNA|TRIM7_ENST00000393319.3_Silent_p.K33K|CTC-338M12.6_ENST00000419707.2_RNA|TRIM7_ENST00000422067.2_Silent_p.K7K|TRIM7_ENST00000274773.7_Silent_p.K215K|CTC-338M12.6_ENST00000502812.2_RNA	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	215						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CTGCCCCCACCTTCTCCTGCT	0.602													51	57					0	0	0	0	T	180627055	C	T	180627055	2	4	22	1	0	0	0	0	0	0	0	1	16638	680	24	4		4	TRIM7	5	180627055	Silent	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	3940038	180627055	288205	35	4548											
F13A1	2162	broad.mit.edu	37	chr6	6174921	6174921	+	Frame_Shift_Del	DEL	G	G	-																															ataagctgtgatggtgtaacGgttgtggctgttgttccgga																										TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr6:6174921delG	ENST00000264870.3	-	12	1904	c.1639delC	c.(1639-1641)gtfs	p.R547fs		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	547					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R547C(1)		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)	ATGGTGTAACGGTTGTGGCTG	0.507													25	90	---	---	---	---					-	6174921	G	-	6174921	7	5	22	1	0	1	0	1	0	0	0	0	5378	1116	39	0	575	0	F13A1	6	6174921	Frame_Shift_Del	DEL	G	TCGA-BA-A4IF-01A-11D-A25Y-08		6174921	164940146	36	4549											
DDR1	780	broad.mit.edu	37	chr6	30866962	30866962	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccggccgcctgcctgcccGcagggcctatatgagctgat	5	8	12	16	3	0	2	0	2	0	0	1	2	1	2	6	2	3	2	6	2	2	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr6:30866962G>A	ENST00000324771.8	+	20	3179	c.2631G>A	c.(2629-2631)ccG>ccA	p.P877P	DDR1_ENST00000418800.2_Silent_p.P840P|DDR1_ENST00000376568.3_Silent_p.P877P|DDR1_ENST00000452441.1_Silent_p.P877P|DDR1_ENST00000376570.4_Silent_p.P840P|DDR1_ENST00000454612.2_Silent_p.P840P|DDR1_ENST00000376567.2_Silent_p.P840P|DDR1_ENST00000376575.3_Silent_p.P883P|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000513240.1_Silent_p.P883P|DDR1_ENST00000376569.3_Silent_p.P840P|DDR1_ENST00000508312.1_Silent_p.P858P			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	877	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTGCCTGCCCGCAGGGCCTAT	0.577													32	153					0	0	0	0	A	30866962	G	A	30866962	2	1	22	1	0	0	0	0	0	0	0	1	4368	1074	38	1		1	DDR1	6	30866962	Silent	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	24692041	30866962	140248105	37	4550											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-57)gaafs	p.E19fs	STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													7	256	---	---	---	---					A	31939830	-	A	31939829	7	5	22	1	0	1	1	0	0	0	0	0	15382	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-BA-A4IF-01A-11D-A25Y-08	1072867	31939829	139175238	38	4551											
MCM3	4172	broad.mit.edu	37	chr6	52138596	52138596	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatccgaaggacatggtctGagatctcccgatcctgctca	9	9	10	13	2	3	1	1	1	2	1	6	5	5	2	3	2	1	2	3	2	1	0			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr6:52138596G>C	ENST00000596288.1	-	10	1655	c.1628C>G	c.(1627-1629)tCa>tGa	p.S543*	MCM3_ENST00000229854.7_Nonsense_Mutation_p.S498*|MCM3_ENST00000419835.2_Nonsense_Mutation_p.S452*	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	498					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GACATGGTCTGAGATCTCCCG	0.507													33	96					0	0	0	0	C	52138596	G	C	52138596	4	2	22	1	0	0	0	0	0	1	0	0	9456	1294	45	2	965	2	MCM3	6	52138596	Nonsense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	20198767	52138596	118976471	39	4552											
DST	667	broad.mit.edu	37	chr6	56501368	56501368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatacctcgaaatacgctGtgttctcctttatgtgctgc	8	14	7	12	2	1	0	0	0	1	0	3	1	1	0	2	0	4	3	2	0	4	5			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr6:56501368G>A	ENST00000370754.5	-	22	2947	c.2948C>T	c.(2947-2949)aCa>aTa	p.T983I	DST_ENST00000370788.2_Missense_Mutation_p.T805I|DST_ENST00000244364.6_Missense_Mutation_p.T479I|DST_ENST00000370769.4_Missense_Mutation_p.T805I|DST_ENST00000370765.6_Missense_Mutation_p.T479I|DST_ENST00000446842.2_Missense_Mutation_p.T479I|DST_ENST00000312431.6_Missense_Mutation_p.T805I|DST_ENST00000421834.2_Missense_Mutation_p.T805I|DST_ENST00000518935.1_Missense_Mutation_p.T479I|DST_ENST00000361203.3_Missense_Mutation_p.T805I			Q03001	DYST_HUMAN	dystonin	805					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAAATACGCTGTGTTCTCCTT	0.413													26	75					0	0	0	0	A	56501368	G	A	56501368	3	1	22	1	0	0	0	0	1	0	0	0	4819	1377	48	4	19023	4	DST	6	56501368	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	4362772	56501368	114613699	40	4553											
MTO1	25821	broad.mit.edu	37	chr6	74190513	74190513	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggcaccactggttatgaGgaagctgcagctcaagtaag	13	8	12	8	0	1	1	1	1	0	0	1	2	1	2	1	3	3	6	1	3	5	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr6:74190513G>A	ENST00000498286.1	+	7	1522	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E	MTO1_ENST00000370300.4_Silent_p.E440E|MTO1_ENST00000370305.1_Silent_p.E366E|MTO1_ENST00000415954.2_Silent_p.E415E			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	440					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						CTGGTTATGAGGAAGCTGCAG	0.393													18	42					0	0	0	0	A	74190513	G	A	74190513	2	1	22	1	0	0	0	0	0	0	0	1	10023	991	35	4		4	MTO1	6	74190513	Silent	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	17689145	74190513	96924554	41	4554											
HTR1B	3351	broad.mit.edu	37	chr6	78172432	78172432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgggcttctacgtagatgCggccatagagggcgatgagg	9	7	17	8	4	1	3	0	1	1	2	1	4	1	3	1	4	3	2	1	4	3	4			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr6:78172432C>T	ENST00000369947.2	-	1	1058	c.689G>A	c.(688-690)cGc>cAc	p.R230H		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	230					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	TACGTAGATGCGGCCATAGAG	0.607													16	72					0	0	0	0	T	78172432	C	T	78172432	3	4	22	1	0	0	0	0	1	0	0	0	7490	768	27	1	487	1	HTR1B	6	78172432	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	3981919	78172432	92942635	42	4555											
RWDD2A	112611	broad.mit.edu	37	chr6	83905854	83905854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttgaagagttactccttGaggctcatggtgactatgga	9	14	11	7	0	1	4	1	3	0	1	2	5	2	5	1	3	1	2	1	3	3	5			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr6:83905854G>C	ENST00000369724.4	+	3	947	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	RWDD2A_ENST00000539997.1_Missense_Mutation_p.E194Q	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	248										cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GTTACTCCTTGAGGCTCATGG	0.418													15	93					0	0	0	0	C	83905854	G	C	83905854	3	2	22	1	0	0	0	0	1	0	0	0	13840	1291	45	2	748	2	RWDD2A	6	83905854	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	5733422	83905854	87209213	43	4556											
RPF2	84154	broad.mit.edu	37	chr6	111329306	111329307	+	Frame_Shift_Del	DEL	AG	AG	-																															ggcgatgatttcgatgtaacAgaagattatagaagactaaa																										TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr6:111329306_111329307delAG	ENST00000441448.2	+	7	551_552	c.459_460delAG	c.(457-462)acaafs	p.TE153fs		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	153	Brix.					nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TCGATGTAACAGAAGATTATAG	0.332													8	66	---	---	---	---					-	111329307	AG	-	111329306	7	5	22	1	0	1	0	1	0	0	0	0	13632	175	7	0	485	0	RPF2	6	111329306	Frame_Shift_Del	DEL	AG	TCGA-BA-A4IF-01A-11D-A25Y-08	27423452	111329306	59785761	44	4557											
AMPH	273	broad.mit.edu	37	chr7	38424508	38424508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtctgattccttcactcCcaccagccagcctgcatcct	7	10	5	19	0	2	1	1	1	1	0	5	1	5	1	7	0	3	1	7	0	0	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr7:38424508C>T	ENST00000356264.2	-	21	2214	c.1999G>A	c.(1999-2001)Gga>Aga	p.G667R	AMPH_ENST00000428293.2_Missense_Mutation_p.G625R|AMPH_ENST00000325590.5_Missense_Mutation_p.G625R	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	667	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCCTTCACTCCCACCAGCCAG	0.458													17	76					0	0	0	0	T	38424508	C	T	38424508	3	4	22	1	0	0	0	0	1	0	0	0	588	632	22	4	92	4	AMPH	7	38424508	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08		38424508	120714155	45	4558											
POM121L12	285877	broad.mit.edu	37	chr7	53103706	53103706	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcgagacctctcctgTgcctgggagggttgcatgaa	6	9	16	10	1	1	2	0	1	1	1	2	4	1	3	3	4	2	2	3	4	1	1			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr7:53103706T>G	ENST00000408890.4	+	1	358	c.342T>G	c.(340-342)tgT>tgG	p.C114W		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	114										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACCTCTCCTGTGCCTGGGAGG	0.721													4	82					0	0	0	0	G	53103706	T	G	53103706	3	3	22	1	0	0	0	0	1	0	0	0	12313	1702	59	5	344	5	POM121L12	7	53103706	Missense_Mutation	SNP	T	TCGA-BA-A4IF-01A-11D-A25Y-08	14679198	53103706	106034957	46	4559											
MDH2	4191	broad.mit.edu	37	chr7	75695628	75695628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgagaagaacctgggcatcgGcaaagtctcctcttttgagg	10	9	12	10	2	2	3	0	1	2	2	4	4	2	3	2	3	1	2	2	3	3	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr7:75695628G>A	ENST00000315758.5	+	9	1011	c.917G>A	c.(916-918)gGc>gAc	p.G306D	MDH2_ENST00000443006.1_Missense_Mutation_p.G199D|MDH2_ENST00000432020.2_Missense_Mutation_p.G264D	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	306					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	CTGGGCATCGGCAAAGTCTCC	0.493													4	84					0	0	0	0	A	75695628	G	A	75695628	3	1	22	1	0	0	0	0	1	0	0	0	9479	1203	42	4	951	4	MDH2	7	75695628	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	22591922	75695628	83443035	47	4560											
AKAP9	10142	broad.mit.edu	37	chr7	91652205	91652205	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaacaagttcaagaattaGaaagcctcatatcctctttg	16	11	6	8	0	3	3	2	0	1	3	4	3	4	3	2	0	2	1	2	0	8	4			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr7:91652205G>C	ENST00000359028.2	+	15	4291	c.4066G>C	c.(4066-4068)Gaa>Caa	p.E1356Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E1356Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1344Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1356					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCAAGAATTAGAAAGCCTCAT	0.343			T	BRAF	papillary thyroid								17	31					0	0	0	0	C	91652205	G	C	91652205	3	2	22	1	0	0	0	0	1	0	0	0	459	943	33	2	4084	2	AKAP9	7	91652205	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	15956577	91652205	67486458	48	4561											
ZAN	7455	broad.mit.edu	37	chr7	100350033	100350033	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagaaaaacccaccatcTccccagaaaaactcaccatc	17	4	2	18	0	2	2	1	0	1	2	4	2	2	2	6	0	2	0	6	0	4	0			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr7:100350033T>C	ENST00000542585.1	+	0	2453				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCTCCCCAGAAAA	0.522													8	150					0	0	0	0	C	100350033	T	C	100350033	1	2	22	0	1	0	0	0	0	0	0	0	17609	1551	54	5		5	ZAN	7	100350033	RNA	SNP	T	TCGA-BA-A4IF-01A-11D-A25Y-08	8697828	100350033	58788630	49	4562											
CNTNAP2	26047	broad.mit.edu	37	chr7	147183111	147183111	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgtgatgagacaggataCagtggggccacctgccacaa	12	7	12	10	0	0	2	0	2	0	1	0	4	0	3	3	3	2	0	3	3	2	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr7:147183111C>G	ENST00000361727.3	+	11	2271	c.1755C>G	c.(1753-1755)taC>taG	p.Y585*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	585	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGACAGGATACAGTGGGGCCA	0.468										HNSCC(39;0.1)			7	78					0	0	0	0	G	147183111	C	G	147183111	4	3	22	1	0	0	0	0	0	1	0	0	3677	489	17	4	1797	4	CNTNAP2	7	147183111	Nonsense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	46833078	147183111	11955552	50	4563											
AGAP3	116988	broad.mit.edu	37	chr7	150817147	150817147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccccagcatcagccagcGggagctgcgcatcgagacca	10	3	11	17	3	1	1	1	0	0	1	2	3	1	2	4	1	5	3	4	1	0	0			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr7:150817147G>A	ENST00000397238.2	+	8	1043	c.1043G>A	c.(1042-1044)cGg>cAg	p.R348Q	AGAP3_ENST00000463381.1_Missense_Mutation_p.R120Q|AGAP3_ENST00000335367.3_Missense_Mutation_p.R528Q|AGAP3_ENST00000473312.1_Missense_Mutation_p.R348Q|AGAP3_ENST00000479901.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	312	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ATCAGCCAGCGGGAGCTGCGC	0.647													22	84					0	0	0	0	A	150817147	G	A	150817147	3	1	22	1	0	0	0	0	1	0	0	0	369	1116	39	1	1073	1	AGAP3	7	150817147	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	3634036	150817147	8321516	51	4564											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19363248	19363248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaccttttggggtgcagGccaacatgtacaggacagag	10	8	13	10	1	1	1	1	0	0	1	1	2	1	2	2	4	3	2	2	4	2	3			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr8:19363248G>A	ENST00000454498.2	-	4	1111	c.98C>T	c.(97-99)gCc>gTc	p.A33V	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.A33V|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.A33V|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.A33V|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.A33V	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	33					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TGGGGTGCAGGCCAACATGTA	0.617													37	84					0	0	0	0	A	19363248	G	A	19363248	3	1	22	1	0	0	0	0	1	0	0	0	3970	1203	42	4	1528	4	CSGALNACT1	8	19363248	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08		19363248	127000774	52	4565											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744247	70744247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaactcttggatctggtagGggggcgagatgaagtgaggt	9	10	17	5	1	3	3	1	2	2	1	3	5	3	4	0	6	1	1	0	6	3	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr8:70744247G>A	ENST00000260126.3	-	2	1368	c.662C>T	c.(661-663)cCc>cTc	p.P221L	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P221L|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P221L|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	221						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GATCTGGTAGGGGGGCGAGAT	0.677													19	32					0	0	0	0	A	70744247	G	A	70744247	3	1	22	1	0	0	0	0	1	0	0	0	14819	1232	43	4	1920	4	SLCO5A1	8	70744247	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	51380999	70744247	75619775	53	4566											
MSC	9242	broad.mit.edu	37	chr8	72756257	72756257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcgctcctcctcgccgtCggggtcctcctcctctgccg	1	9	11	20	5	1	0	0	0	1	0	8	0	6	0	7	2	2	2	7	2	0	0			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr8:72756257C>T	ENST00000325509.4	-	1	446	c.157G>A	c.(157-159)Gac>Aac	p.D53N	RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	53	Glu-rich (acidic).				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TCCTCGCCGTCGGGGTCCTCC	0.736											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	11					0	0	0	0	T	72756257	C	T	72756257	3	4	22	1	0	0	0	0	1	0	0	0	9938	884	31	1	471	1	MSC	8	72756257	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	2012010	72756257	73607765	54	4567											
TSNARE1	203062	broad.mit.edu	37	chr8	143396416	143396416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagagctgggttttcagcCggtccagctgaggacgctcc	6	9	14	12	2	1	2	1	2	0	1	3	4	3	3	3	3	3	4	3	3	0	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr8:143396416C>T	ENST00000519651.1	-	6	465	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000307180.3_Missense_Mutation_p.R341Q|TSNARE1_ENST00000524325.1_Missense_Mutation_p.R340Q|TSNARE1_ENST00000520166.1_Missense_Mutation_p.R340Q			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	341					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGTTTTCAGCCGGTCCAGCTG	0.652													4	85					0	0	0	0	T	143396416	C	T	143396416	3	4	22	1	0	0	0	0	1	0	0	0	16725	652	23	1	543	1	TSNARE1	8	143396416	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	70640159	143396416	2967606	55	4568											
CDKN2A	1029	broad.mit.edu	37	chr9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgtgtccaggaagccctCccgggcagcgtcgtgcacgg	6	5	15	15	5	0	0	0	0	0	0	3	1	2	1	3	3	4	2	3	3	1	0	rs121913384		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr9:21971096C>A	ENST00000304494.5	-	2	532	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			17	23					1.40151e-16	1.55723e-16	1	0	A	21971096	C	A	21971096	4	1	22	1	0	0	0	0	0	1	0	0	3190	864	30	2	216	2	CDKN2A	9	21971096	Nonsense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08		21971096	119242335	56	4569											
ALDH1B1	219	broad.mit.edu	37	chr9	38396287	38396287	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgttggtgtctgtggccAgatcatcccgtggaacttcc	5	11	12	13	2	2	1	1	0	1	1	4	2	4	2	4	3	1	1	4	3	1	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr9:38396287A>G	ENST00000377698.3	+	2	695	c.542A>G	c.(541-543)cAg>cGg	p.Q181R		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	181					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GTCTGTGGCCAGATCATCCCG	0.582													39	75					0	0	0	0	G	38396287	A	G	38396287	3	3	22	1	0	0	0	0	1	0	0	0	493	188	7	5	544	5	ALDH1B1	9	38396287	Missense_Mutation	SNP	A	TCGA-BA-A4IF-01A-11D-A25Y-08	16425191	38396287	102817144	57	4570											
DNAJC25	548645	broad.mit.edu	37	chr9	114411821	114411821	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagctacagagattgccaAgcagcagggactgctcaaaa	15	5	10	11	0	1	1	1	0	0	1	1	3	1	2	2	1	6	4	2	1	5	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr9:114411821A>T	ENST00000313525.3	+	3	634	c.578A>T	c.(577-579)aAg>aTg	p.K193M	DNAJC25-GNG10_ENST00000374294.3_Intron|DNAJC25_ENST00000556107.1_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	193					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						GAGATTGCCAAGCAGCAGGGA	0.403													8	30					0	0	0	0	T	114411821	A	T	114411821	3	4	22	1	0	0	0	0	1	0	0	0	4679	72	3	5	588	5	DNAJC25	9	114411821	Missense_Mutation	SNP	A	TCGA-BA-A4IF-01A-11D-A25Y-08	76015534	114411821	26801610	58	4571											
ASTN2	23245	broad.mit.edu	37	chr9	119204767	119204767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctaccagtggacaggccGtcctcagggtcaccgtgctt	7	9	11	14	2	3	0	2	0	1	0	4	1	4	1	4	3	2	1	4	3	1	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr9:119204767G>A	ENST00000313400.4	-	21	3663	c.3563C>T	c.(3562-3564)aCg>aTg	p.T1188M	ASTN2_ENST00000341734.4_Missense_Mutation_p.T240M|ASTN2_ENST00000361209.2_Missense_Mutation_p.T1137M|ASTN2_ENST00000361477.3_Missense_Mutation_p.T240M|ASTN2_ENST00000373996.3_Missense_Mutation_p.T1184M|ASTN2_ENST00000288520.5_Missense_Mutation_p.T289M			O75129	ASTN2_HUMAN	astrotactin 2	1188	Fibronectin type-III.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGGACAGGCCGTCCTCAGGGT	0.512													16	109					0	0	0	0	A	119204767	G	A	119204767	3	1	22	1	0	0	0	0	1	0	0	0	1069	1145	40	1	509	1	ASTN2	9	119204767	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	4792946	119204767	22008664	59	4572											
OR1L8	138881	broad.mit.edu	37	chr9	125330260	125330260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcacagaaggtgagaCgattcagcagaagtgtgtgc	12	8	15	6	1	2	3	2	1	0	3	2	6	2	4	0	2	2	1	0	2	2	1			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr9:125330260C>A	ENST00000304865.2	-	1	578	c.497G>T	c.(496-498)cGt>cTt	p.R166L		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAAGGTGAGACGATTCAGCAG	0.498													21	73					0.000175454	0.000179296	1	0	A	125330260	C	A	125330260	3	1	22	1	0	0	0	0	1	0	0	0	11038	536	19	3	436	3	OR1L8	9	125330260	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	6125493	125330260	15883171	60	4573											
RC3H2	54542	broad.mit.edu	37	chr9	125618102	125618102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgccacaagaccagggaGaataatgggaaagatgatct	15	7	13	6	0	1	4	0	1	1	3	1	6	1	5	2	3	1	0	2	3	4	1			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr9:125618102G>A	ENST00000373670.1	-	13	3110	c.2510C>T	c.(2509-2511)tCt>tTt	p.S837F	RC3H2_ENST00000357244.2_Missense_Mutation_p.S837F|RC3H2_ENST00000423239.2_Missense_Mutation_p.S837F			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	837						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AGACCAGGGAGAATAATGGGA	0.353													22	56					0	0	0	0	A	125618102	G	A	125618102	3	1	22	1	0	0	0	0	1	0	0	0	13249	942	33	2	1175	2	RC3H2	9	125618102	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	287842	125618102	15595329	61	4574			1	6		2	2	17	G		5.78856e-05
RC3H2	54542	broad.mit.edu	37	chr9	125618118	125618118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagaataatgggaaagatGatcttcttcaaattttgtac	14	13	10	4	0	3	3	1	1	2	2	3	5	3	4	0	2	1	1	0	2	5	6			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr9:125618118G>A	ENST00000373670.1	-	13	3094	c.2494C>T	c.(2494-2496)Cat>Tat	p.H832Y	RC3H2_ENST00000357244.2_Missense_Mutation_p.H832Y|RC3H2_ENST00000423239.2_Missense_Mutation_p.H832Y			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	832						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGGGAAAGATGATCTTCTTCA	0.358													19	52					0	0	0	0	A	125618118	G	A	125618118	3	1	22	1	0	0	0	0	1	0	0	0	13249	1290	45	2	1191	2	RC3H2	9	125618118	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	16	125618118	15595313	62	4575			1	6		2	2	17	G		5.78856e-05
NOTCH1	4851	broad.mit.edu	37	chr9	139393350	139393350	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatcccagcctcgcgctcaCcctgttgttctgcatatctt	5	13	7	16	2	3	0	1	0	2	0	5	0	4	0	3	0	2	5	3	0	1	4			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr9:139393350C>G	ENST00000277541.6	-	33	6256		c.e33+1			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCGCGCTCACCCTGTTGTTC	0.622			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			37	130					0	0	0	0	G	139393350	C	G	139393350	5	3	22	1	0	0	0	0	0	0	1	0	10617	521	18	4	1494	4	NOTCH1	9	139393350	Splice_Site	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	13775232	139393350	1820081	63	4576											
TMEM72	643236	broad.mit.edu	37	chr10	45430235	45430235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgctgtgagcaccaccGgctctggggacacagagcaa	10	4	14	13	2	1	2	0	1	1	1	1	3	1	3	2	3	3	5	2	3	1	0			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr10:45430235G>A	ENST00000544540.1	+	4	611	c.127G>A	c.(127-129)Ggc>Agc	p.G43S	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	161						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						GAGCACCACCGGCTCTGGGGA	0.587													67	213					0	0	0	0	A	45430235	G	A	45430235	3	1	22	1	0	0	0	0	1	0	0	0	16295	1116	39	1	499	1	TMEM72	10	45430235	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08		45430235	90104512	64	4577											
FRMPD2	143162	broad.mit.edu	37	chr10	49393657	49393657	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttctcggcccggttcagcTataaagctcttcctcctatt	7	15	6	13	2	3	0	1	0	2	0	6	0	5	0	3	2	2	3	3	2	4	7			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr10:49393657T>A	ENST00000374201.3	-	18	2600	c.2298A>T	c.(2296-2298)atA>atT	p.I766I	FRMPD2_ENST00000305531.3_Silent_p.I741I|FRMPD2_ENST00000407470.4_Silent_p.I734I	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	766					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCGGTTCAGCTATAAAGCTCT	0.473													22	67					0	0	0	0	A	49393657	T	A	49393657	2	1	22	1	0	0	0	0	0	0	0	1	6106	1512	53	5		5	FRMPD2	10	49393657	Silent	SNP	T	TCGA-BA-A4IF-01A-11D-A25Y-08	3963422	49393657	86141090	65	4578											
PBLD	64081	broad.mit.edu	37	chr10	70045128	70045128	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttctttcttccccagaTgctgggaccagtagctgctg	6	13	10	12	0	2	1	0	0	2	1	3	2	3	2	3	1	3	5	3	1	1	4			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr10:70045128T>A	ENST00000358769.2	-	9	933	c.731A>T	c.(730-732)cAt>cTt	p.H244L	PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000336578.1_Missense_Mutation_p.H211L|PBLD_ENST00000309049.4_Missense_Mutation_p.H244L|PBLD_ENST00000432941.1_Missense_Mutation_p.H244L	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	244					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTTCCCCAGATGCTGGGACCA	0.433													30	125					0	0	0	0	A	70045128	T	A	70045128	3	1	22	1	0	0	0	0	1	0	0	0	11560	1464	51	5	232	5	PBLD	10	70045128	Missense_Mutation	SNP	T	TCGA-BA-A4IF-01A-11D-A25Y-08	20651471	70045128	65489619	66	4579											
ANKRD1	27063	broad.mit.edu	37	chr10	92675321	92675321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcttgatgttgagatcCgcgccatacataatcaggag	11	11	10	9	2	2	2	1	2	1	1	3	4	3	3	2	1	1	2	2	1	2	5			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr10:92675321C>T	ENST00000371697.3	-	8	1076	c.828G>A	c.(826-828)gcG>gcA	p.A276A		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	276					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TGTTGAGATCCGCGCCATACA	0.458													7	54					0	0	0	0	T	92675321	C	T	92675321	2	4	22	1	0	0	0	0	0	0	0	1	637	639	23	1		1	ANKRD1	10	92675321	Silent	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	22630193	92675321	42859426	67	4580											
SLIT1	6585	broad.mit.edu	37	chr10	98762697	98762697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaccgtggaagccggtgccGttgaggatctgccacaggcg	8	6	15	12	4	1	1	0	1	1	0	1	3	1	3	4	4	4	1	4	4	2	1	rs148583876		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr10:98762697G>A	ENST00000266058.4	-	35	4163	c.3918C>T	c.(3916-3918)aaC>aaT	p.N1306N	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.N1306N	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1306	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGCCGGTGCCGTTGAGGATCT	0.607													69	232					0	0	0	0	A	98762697	G	A	98762697	2	1	22	1	0	0	0	0	0	0	0	1	14827	1136	40	1		1	SLIT1	10	98762697	Silent	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	6087376	98762697	36772050	68	4581											
SORCS1	114815	broad.mit.edu	37	chr10	108412274	108412274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgtactgttcccttaCgccatcagtgcaattattgg	8	13	10	10	1	1	0	1	0	0	0	2	0	2	0	2	2	3	4	2	2	4	5			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr10:108412274C>T	ENST00000263054.6	-	18	2348	c.2341G>A	c.(2341-2343)Gta>Ata	p.V781I	SORCS1_ENST00000344440.6_Missense_Mutation_p.V781I|SORCS1_ENST00000369698.1_Missense_Mutation_p.V316I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	781						integral to membrane	neuropeptide receptor activity|protein binding	p.V781L(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTTCCCTTACGCCATCAGTG	0.493													27	94					0	0	0	0	T	108412274	C	T	108412274	3	4	22	1	0	0	0	0	1	0	0	0	15018	536	19	1	1435	1	SORCS1	10	108412274	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	9649577	108412274	27122473	69	4582											
OR51G2	81282	broad.mit.edu	37	chr11	4936206	4936206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggcgatggacagcaCggtgcgcaggatcagagcat	10	5	16	10	3	1	1	1	0	0	1	1	5	1	4	1	5	3	3	1	5	0	0			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr11:4936206C>T	ENST00000322013.3	-	1	716	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V230M(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGACAGCACGGTGCGCAGG	0.522													17	66					0	0	0	0	T	4936206	C	T	4936206	3	4	22	1	0	0	0	0	1	0	0	0	11170	536	19	1	260	1	OR51G2	11	4936206	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08		4936206	130070310	70	4583											
TP53I11	9537	broad.mit.edu	37	chr11	44957116	44957116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacctcaggactcacccaaGaactggaccccgaaatagca	14	4	7	16	1	2	1	2	0	0	1	2	4	2	3	5	2	2	1	5	2	4	1			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr11:44957116G>A	ENST00000533940.1	-	9	1036	c.432C>T	c.(430-432)ttC>ttT	p.F144F	TP53I11_ENST00000525680.1_Silent_p.F144F|TP53I11_ENST00000395648.3_Silent_p.F144F|TP53I11_ENST00000308212.5_Silent_p.F144F	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	144					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						ACTCACCCAAGAACTGGACCC	0.582													6	60					0	0	0	0	A	44957116	G	A	44957116	2	1	22	1	0	0	0	0	0	0	0	1	16480	933	33	2		2	TP53I11	11	44957116	Silent	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	40020910	44957116	90049400	71	4584											
TECTA	7007	broad.mit.edu	37	chr11	121000526	121000526	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattgcacagggggcttgtgCggcttctacaatgccaacgc	9	9	12	11	2	1	0	0	0	1	0	1	0	1	0	1	3	5	3	1	3	4	4	rs148065839		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr11:121000526C>T	ENST00000392793.1	+	10	2818	c.2547C>T	c.(2545-2547)tgC>tgT	p.C849C	TECTA_ENST00000264037.2_Silent_p.C849C			O75443	TECTA_HUMAN	tectorin alpha	849	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGGCTTGTGCGGCTTCTACA	0.547													4	208					0	0	0	0	T	121000526	C	T	121000526	2	4	22	1	0	0	0	0	0	0	0	1	15841	776	27	1		1	TECTA	11	121000526	Silent	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	76043410	121000526	14005990	72	4585											
LRP6	4040	broad.mit.edu	37	chr12	12274116	12274116	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaggtgatgagaatagcTcctctctgtgtatggagaag	11	11	14	5	0	1	4	0	2	1	3	3	6	2	4	1	2	1	3	1	2	5	3			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr12:12274116T>C	ENST00000261349.4	-	23	4862	c.4786A>G	c.(4786-4788)Agc>Ggc	p.S1596G	LRP6_ENST00000543091.1_Missense_Mutation_p.S1551G|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1596					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGAGAATAGCTCCTCTCTGTG	0.547													6	82					0	0	0	0	C	12274116	T	C	12274116	3	2	22	1	0	0	0	0	1	0	0	0	9026	1551	54	5	59	5	LRP6	12	12274116	Missense_Mutation	SNP	T	TCGA-BA-A4IF-01A-11D-A25Y-08		12274116	121577779	73	4586											
GRIN2B	2904	broad.mit.edu	37	chr12	13764681	13764681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccatcagcgaggcacctGttataacccacagggctgaa	11	7	10	13	1	1	1	1	1	0	0	1	2	1	1	3	2	3	3	3	2	3	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr12:13764681G>T	ENST00000279593.3	-	8	1967	c.1758C>A	c.(1756-1758)aaC>aaA	p.N586K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	586					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGAGGCACCTGTTATAACCCA	0.493													42	134					9.39024e-22	1.07757e-21	1	0	T	13764681	G	T	13764681	3	4	22	1	0	0	0	0	1	0	0	0	6830	1368	48	4	2720	4	GRIN2B	12	13764681	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	1490565	13764681	120087214	74	4587											
TSPAN31	6302	broad.mit.edu	37	chr12	58139630	58139630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgctgtgggagtcttcCttctccttattgcagtggct	4	17	10	10	0	3	0	1	0	2	0	5	1	4	1	2	2	2	3	2	2	1	5			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr12:58139630C>T	ENST00000547992.1	+	2	298	c.166C>T	c.(166-168)Ctt>Ttt	p.L56F	TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000257910.3_Missense_Mutation_p.L56F|TSPAN31_ENST00000553221.1_3'UTR			Q12999	TSN31_HUMAN	tetraspanin 31	56					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GGGAGTCTTCCTTCTCCTTAT	0.577													15	91					0	0	0	0	T	58139630	C	T	58139630	3	4	22	1	0	0	0	0	1	0	0	0	16741	681	24	4	172	4	TSPAN31	12	58139630	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	44374949	58139630	75712265	75	4588											
P2RX4	5025	broad.mit.edu	37	chr12	121670836	121670837	+	Frame_Shift_Ins	INS	-	-	T																															catcatagtcctctactgcaINStgaagaaaagactctactat																										TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr12:121670836_121670837insT	ENST00000337233.4	+	11	1389_1390	c.1081_1082insT	c.(1081-1083)gaafs	p.E361fs	P2RX4_ENST00000543171.1_Frame_Shift_Ins_p.E260fs|P2RX4_ENST00000359949.7_Frame_Shift_Ins_p.E377fs	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	361					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTCTACTGCATGAAGAAAAGA	0.495													138	296	---	---	---	---					T	121670837	-	T	121670836	7	5	22	1	0	1	1	0	0	0	0	0	11413	217	8	0	1123	0	P2RX4	12	121670836	Frame_Shift_Ins	INS	-	TCGA-BA-A4IF-01A-11D-A25Y-08	63531206	121670836	12181059	76	4589											
MTUS2	23281	broad.mit.edu	37	chr13	29600974	29600974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcttcagttccggattGatggtgtctggaatcaagcc	8	12	13	8	1	4	1	2	1	2	0	5	3	5	3	2	4	1	1	2	4	2	3			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr13:29600974G>T	ENST00000431530.3	+	1	2227	c.2169G>T	c.(2167-2169)ttG>ttT	p.L723F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	713	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GTTCCGGATTGATGGTGTCTG	0.468													25	57					2.41591e-17	2.70582e-17	1	0	T	29600974	G	T	29600974	3	4	22	1	0	0	0	0	1	0	0	0	10036	1281	45	2	2171	2	MTUS2	13	29600974	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08		29600974	85568904	77	4590											
INTS6	26512	broad.mit.edu	37	chr13	51950210	51950210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcctttcagaaatctgCgagtgctcttcaaaagatta	11	13	7	10	1	4	2	2	0	2	2	5	3	5	2	2	0	2	1	2	0	4	3			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr13:51950210C>A	ENST00000311234.4	-	13	2175	c.1703G>T	c.(1702-1704)cGc>cTc	p.R568L	INTS6_ENST00000490542.1_Missense_Mutation_p.R252L|INTS6_ENST00000398119.2_Missense_Mutation_p.R555L|INTS6_ENST00000497989.1_Missense_Mutation_p.R390L|INTS6_ENST00000425000.1_Missense_Mutation_p.R136L|INTS6_ENST00000463928.1_Intron	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	568					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CAGAAATCTGCGAGTGCTCTT	0.338													18	43					2.35188e-11	2.51346e-11	1	0	A	51950210	C	A	51950210	3	1	22	1	0	0	0	0	1	0	0	0	7835	768	27	3	984	3	INTS6	13	51950210	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	22349236	51950210	63219668	78	4591											
NRXN3	9369	broad.mit.edu	37	chr14	79746660	79746660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaatccacgcgagacGgagccctcctcgccggccgg	7	4	13	17	6	0	2	0	1	0	2	3	5	2	3	6	3	1	0	6	3	1	0			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr14:79746660G>T	ENST00000281127.7	+	1	905	c.26G>T	c.(25-27)cGg>cTg	p.R9L	NRXN3_ENST00000557594.1_Missense_Mutation_p.R9L|NRXN3_ENST00000428277.2_Missense_Mutation_p.R9L|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000554719.1_Intron	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	9					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)		CACGCGAGACGGAGCCCTCCT	0.557													61	191					8.81991e-31	1.04643e-30	1	0	T	79746660	G	T	79746660	3	4	22	1	0	0	0	0	1	0	0	0	10738	1116	39	3	2211	3	NRXN3	14	79746660	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08		79746660	27602880	79	4592											
EML1	2009	broad.mit.edu	37	chr14	100387174	100387174	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttggtcaccgttcacacAgatggaaacgaacagctctc	12	8	9	12	2	3	1	2	0	1	1	4	4	3	2	1	2	3	2	1	2	2	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr14:100387174A>T	ENST00000262233.6	+	17	2008	c.1869A>T	c.(1867-1869)acA>acT	p.T623T	EML1_ENST00000334192.4_Silent_p.T642T|EML1_ENST00000327921.9_Silent_p.T611T	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	623						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CCGTTCACACAGATGGAAACG	0.353													13	80					0	0	0	0	T	100387174	A	T	100387174	2	4	22	1	0	0	0	0	0	0	0	1	5134	175	7	5		5	EML1	14	100387174	Silent	SNP	A	TCGA-BA-A4IF-01A-11D-A25Y-08	20640514	100387174	6962366	80	4593											
ZNF839	55778	broad.mit.edu	37	chr14	102805159	102805159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatttcttttcaggttgctGagtcattaggaatcacagaa	11	14	8	8	0	4	2	3	1	1	1	4	3	4	3	1	2	1	2	1	2	3	5			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr14:102805159G>C	ENST00000262236.5	+	6	1673	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q	ZNF839_ENST00000442396.2_Missense_Mutation_p.E556Q|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000559185.1_Missense_Mutation_p.E440Q|ZNF839_ENST00000558850.1_Missense_Mutation_p.E440Q	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	440						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TCAGGTTGCTGAGTCATTAGG	0.458													12	34					0	0	0	0	C	102805159	G	C	102805159	3	2	22	1	0	0	0	0	1	0	0	0	18281	1291	45	2	1688	2	ZNF839	14	102805159	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	2417985	102805159	4544381	81	4594											
BCL2A1	597	broad.mit.edu	37	chr15	80253470	80253470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtaacttctagaaaaGtcatccagccagatttaggt	12	13	7	9	0	2	2	1	0	1	2	4	2	4	2	3	1	2	1	3	1	5	6			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr15:80253470G>A	ENST00000267953.3	-	2	793	c.467C>T	c.(466-468)aCt>aTt	p.T156I	BCL2A1_ENST00000335661.6_3'UTR	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	156					anti-apoptosis|apoptosis	cytoplasm	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						TTCTAGAAAAGTCATCCAGCC	0.353													14	28					0	0	0	0	A	80253470	G	A	80253470	3	1	22	1	0	0	0	0	1	0	0	0	1370	1029	36	4	64	4	BCL2A1	15	80253470	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08		80253470	22277922	82	4595											
SSTR5	6755	broad.mit.edu	37	chr16	1129719	1129719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggagcccgcctccgccgGcctctacttcttcgtggtca	4	9	10	18	4	3	0	1	0	2	0	5	1	4	1	6	3	2	0	6	3	1	3			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr16:1129719G>A	ENST00000293897.4	+	1	939	c.851G>A	c.(850-852)gGc>gAc	p.G284D	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.G284D	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	284					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GCCTCCGCCGGCCTCTACTTC	0.617													33	77					0	0	0	0	A	1129719	G	A	1129719	3	1	22	1	0	0	0	0	1	0	0	0	15291	1203	42	4	853	4	SSTR5	16	1129719	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08		1129719	89225034	83	4596											
ZNF785	146540	broad.mit.edu	37	chr16	30593997	30593997	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgctgccacgcgcgccTctcgctgcaggagcggtgga	4	6	16	15	5	1	0	0	0	1	0	2	2	1	2	3	4	4	3	3	4	0	0			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr16:30593997T>A	ENST00000395216.2	-	3	1261	c.1102A>T	c.(1102-1104)Agg>Tgg	p.R368W	AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.R353W	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CACGCGCGCCTCTCGCTGCAG	0.637													37	99					0	0	0	0	A	30593997	T	A	30593997	3	1	22	1	0	0	0	0	1	0	0	0	18250	1550	54	5	119	5	ZNF785	16	30593997	Missense_Mutation	SNP	T	TCGA-BA-A4IF-01A-11D-A25Y-08	29464278	30593997	59760756	84	4597											
GPT2	84706	broad.mit.edu	37	chr16	46952615	46952615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagatggggcccgagtactCcagcaacgtggagctcgcct	8	6	14	13	4	0	1	0	0	0	1	2	4	1	2	3	3	4	3	3	3	2	1			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr16:46952615C>A	ENST00000440783.2	+	8	1348	c.683C>A	c.(682-684)tCc>tAc	p.S228Y	GPT2_ENST00000340124.4_Missense_Mutation_p.S328Y	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	328					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCCGAGTACTCCAGCAACGTG	0.617													41	157					1.96642e-18	2.22015e-18	1	0	A	46952615	C	A	46952615	3	1	22	1	0	0	0	0	1	0	0	0	6788	855	30	2	1009	2	GPT2	16	46952615	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	16358618	46952615	43402138	85	4598											
TMED6	146456	broad.mit.edu	37	chr16	69385576	69385576	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctggtccccagagccactTagaggttctgtcttctggct	5	12	12	12	0	3	2	0	0	3	2	4	2	4	2	3	4	1	3	3	4	1	3	rs143433971	by1000genomes	TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr16:69385576T>A	ENST00000564737.1	-	1	57	c.58A>T	c.(58-60)Aag>Tag	p.K20*	TMED6_ENST00000288025.3_Silent_p.L27L|RP11-343C2.9_ENST00000563634.1_Intron																							CAGAGCCACTTAGAGGTTCTG	0.552													48	153					0	0	0	0	A	69385576	T	A	69385576	4	1	22	1	0	0	0	0	0	1	0	0	16102	1741	61	5	657	5	TMED6	16	69385576	Nonsense_Mutation	SNP	T	TCGA-BA-A4IF-01A-11D-A25Y-08	22432961	69385576	20969177	86	4599											
CHST5	23563	broad.mit.edu	37	chr16	75563775	75563775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcacagtgtcttgcataCgtcctgcttgctgatggtgc	5	13	12	11	2	1	1	0	1	1	0	2	1	2	1	1	1	6	4	1	1	1	3			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr16:75563775C>T	ENST00000336257.3	-	3	1902	c.508G>A	c.(508-510)Gta>Ata	p.V170I	CHST5_ENST00000541075.1_Missense_Mutation_p.V176I|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	170					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GTCTTGCATACGTCCTGCTTG	0.652													83	295					0	0	0	0	T	75563775	C	T	75563775	3	4	22	1	0	0	0	0	1	0	0	0	3436	536	19	1	731	1	CHST5	16	75563775	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	6178199	75563775	14790978	87	4600											
CMIP	80790	broad.mit.edu	37	chr16	81733384	81733384	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgctcctggcactgaGggggaaccagaccatggtgg	8	7	15	11	0	0	2	0	1	0	1	1	3	1	3	3	5	3	3	3	5	1	0			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr16:81733384G>C	ENST00000537098.3	+	15	1805	c.1733G>C	c.(1732-1734)aGg>aCg	p.R578T	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.R425T|CMIP_ENST00000539778.2_Missense_Mutation_p.R484T	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	544						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CTGGCACTGAGGGGGAACCAG	0.597													8	39					0	0	0	0	C	81733384	G	C	81733384	3	2	22	1	0	0	0	0	1	0	0	0	3608	1000	35	4	1813	4	CMIP	16	81733384	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	6169609	81733384	8621369	88	4601											
KIAA0513	9764	broad.mit.edu	37	chr16	85121917	85121917	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagtgaccacattgagcaaAtggccactgagtaggcccca	12	8	10	11	0	0	3	0	3	0	0	0	3	0	3	4	2	1	2	4	2	3	3			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr16:85121917A>G	ENST00000566428.1	+	13	1853	c.1222A>G	c.(1222-1224)Atg>Gtg	p.M408V	KIAA0513_ENST00000258180.3_Missense_Mutation_p.M408V|KIAA0513_ENST00000538274.1_Missense_Mutation_p.M398V			O60268	K0513_HUMAN	KIAA0513	408						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CATTGAGCAAATGGCCACTGA	0.562													16	73					0	0	0	0	G	85121917	A	G	85121917	3	3	22	1	0	0	0	0	1	0	0	0	8232	101	4	5	1268	5	KIAA0513	16	85121917	Missense_Mutation	SNP	A	TCGA-BA-A4IF-01A-11D-A25Y-08	3388533	85121917	5232836	89	4602											
ZNF594	84622	broad.mit.edu	37	chr17	5085765	5085765	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccacattctttgcattcaTatggtttctctcttgtatga	7	19	5	10	0	4	1	1	1	3	0	6	1	5	1	1	1	1	3	1	1	2	7			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr17:5085765T>C	ENST00000399604.4	-	1	1927	c.1787A>G	c.(1786-1788)tAt>tGt	p.Y596C	ZNF594_ENST00000575779.1_Missense_Mutation_p.Y596C			Q96JF6	ZN594_HUMAN	zinc finger protein 594	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTGCATTCATATGGTTTCTC	0.418													20	206					0	0	0	0	C	5085765	T	C	5085765	3	2	22	1	0	0	0	0	1	0	0	0	18119	1406	49	5	640	5	ZNF594	17	5085765	Missense_Mutation	SNP	T	TCGA-BA-A4IF-01A-11D-A25Y-08		5085765	76109445	90	4603											
TP53	7157	broad.mit.edu	37	chr17	7578530	7578530	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcttggccagttggcaaaAcatcttgttgagggcagggg	8	10	16	7	0	2	1	0	1	2	0	2	1	2	1	1	6	1	4	1	6	2	4			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr17:7578530A>C	ENST00000420246.2	-	5	532	c.400T>G	c.(400-402)Ttt>Gtt	p.F134V	TP53_ENST00000359597.4_Missense_Mutation_p.F134V|TP53_ENST00000455263.2_Missense_Mutation_p.F134V|TP53_ENST00000269305.4_Missense_Mutation_p.F134V|TP53_ENST00000445888.2_Missense_Mutation_p.F134V|TP53_ENST00000413465.2_Missense_Mutation_p.F134V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	134	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F134L(16)|p.F134V(12)|p.0?(8)|p.C135fs*35(5)|p.M133fs*36(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.F2V(1)|p.F41V(1)|p.S127fs*36(1)|p.?(1)|p.Y126fs*11(1)|p.F134fs*39(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F41L(1)|p.F2L(1)|p.M133fs*13(1)|p.M40fs*36(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGTTGGCAAAACATCTTGTTG	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	32					0	0	0	0	C	7578530	A	C	7578530	3	2	22	1	0	0	0	0	1	0	0	0	16476	43	2	5	898	5	TP53	17	7578530	Missense_Mutation	SNP	A	TCGA-BA-A4IF-01A-11D-A25Y-08	2492765	7578530	73616680	91	4604											
MYH1	4619	broad.mit.edu	37	chr17	10404587	10404587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttcctcagggtggccGccgtggcttcatgctgtagg	3	12	14	12	2	3	0	2	0	1	0	4	0	4	0	3	4	1	4	3	4	1	4			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr17:10404587G>A	ENST00000226207.5	-	27	3672	c.3578C>T	c.(3577-3579)gCg>gTg	p.A1193V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1193						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGGGTGGCCGCCGTGGCTTC	0.577													26	151					0	0	0	0	A	10404587	G	A	10404587	3	1	22	1	0	0	0	0	1	0	0	0	10099	1087	38	1	2297	1	MYH1	17	10404587	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	2826057	10404587	70790623	92	4605											
FLII	2314	broad.mit.edu	37	chr17	18160272	18160272	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtagcagaggccagtgCggttcagcttcagccaccgc	8	6	14	13	2	2	1	2	0	0	1	2	1	2	1	3	3	4	5	3	3	1	3	rs145813372		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr17:18160272C>A	ENST00000327031.4	-	2	350	c.125G>T	c.(124-126)cGc>cTc	p.R42L	FLII_ENST00000579294.1_Missense_Mutation_p.R31L|FLII_ENST00000578558.1_Missense_Mutation_p.R42L|FLII_ENST00000379450.4_Missense_Mutation_p.R11L|FLII_ENST00000545457.2_Missense_Mutation_p.R42L|FLII_ENST00000584444.1_5'UTR	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	42	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GAGGCCAGTGCGGTTCAGCTT	0.652													6	15					0.00198382	0.00199809	1	0	A	18160272	C	A	18160272	3	1	22	1	0	0	0	0	1	0	0	0	5970	768	27	3	3800	3	FLII	17	18160272	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	7755685	18160272	63034938	93	4606											
SLFN13	146857	broad.mit.edu	37	chr17	33772191	33772191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcataattttactaggtggaGacccttcattaatcagatta	13	15	6	7	0	3	2	3	0	0	2	3	3	3	2	1	2	1	0	1	2	5	7			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr17:33772191G>A	ENST00000285013.6	-	3	784	c.509C>T	c.(508-510)tCt>tTt	p.S170F	SLFN13_ENST00000542635.1_Missense_Mutation_p.S170F|SLFN13_ENST00000526861.1_Missense_Mutation_p.S170F|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.S170F|SLFN13_ENST00000360502.2_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	170						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACTAGGTGGAGACCCTTCATT	0.378													5	163					0	0	0	0	A	33772191	G	A	33772191	3	1	22	1	0	0	0	0	1	0	0	0	14824	942	33	2	2200	2	SLFN13	17	33772191	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	15611919	33772191	47423019	94	4607											
FAM117A	81558	broad.mit.edu	37	chr17	47788765	47788765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggaaggggagatcccGggtttgaggggcagttacgg	7	6	21	7	3	0	2	0	1	0	1	1	4	1	3	2	8	1	3	2	8	2	2	rs138923537		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr17:47788765G>A	ENST00000240364.2	-	8	1293	c.1214C>T	c.(1213-1215)cCg>cTg	p.P405L	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_Missense_Mutation_p.P133L	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	405	Pro-rich.									haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GGGAGATCCCGGGTTTGAGGG	0.647													19	59					0	0	0	0	A	47788765	G	A	47788765	3	1	22	1	0	0	0	0	1	0	0	0	5450	1116	39	1	151	1	FAM117A	17	47788765	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	14016574	47788765	33406445	95	4608											
TANC2	26115	broad.mit.edu	37	chr17	61345182	61345190	+	In_Frame_Del	DEL	ACGAATGCC	ACGAATGCC	-																															acacctttgagaacttctctAcgaatgccaagacagagcat																										TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr17:61345182_61345190delACGAATGCC	ENST00000424789.2	+	7	889_897	c.885_893delACGAATGCC	c.(883-894)cta>ct	p.LRMP295del	TANC2_ENST00000389520.4_In_Frame_Del_p.LRMP295del|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	295							binding	p.M297I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GAACTTCTCTACGAATGCCAAGACAGAGC	0.483													8	43	---	---	---	---					-	61345190	ACGAATGCC	-	61345182	7	5	22	1	0	1	0	1	0	0	0	0	15636	378	14	0	911	0	TANC2	17	61345182	In_Frame_Del	DEL	ACGAATGCC	TCGA-BA-A4IF-01A-11D-A25Y-08	13556417	61345182	19850028	96	4609											
MUC16	94025	broad.mit.edu	37	chr19	9046079	9046079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctgtccctggatgggtgGaaagtggggctgtttttgca	5	15	15	6	0	1	0	0	0	1	0	2	2	2	2	1	5	1	3	1	5	1	3			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr19:9046079G>T	ENST00000397910.4	-	5	35755	c.35552C>A	c.(35551-35553)tCc>tAc	p.S11851Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11853	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						TGGATGGGTGGAAAGTGGGGC	0.478													59	72					4.17463e-26	4.8704e-26	1	0	T	9046079	G	T	9046079	3	4	22	1	0	0	0	0	1	0	0	0	10043	1174	41	2	8291	2	MUC16	19	9046079	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08		9046079	50082904	97	4610											
MUC16	94025	broad.mit.edu	37	chr19	9059461	9059461	+	Missense_Mutation	SNP	T	T	C																															gcctgggatggatgttctgcTagaagagatggcttctgtcc																										TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr19:9059461T>C	ENST00000397910.4	-	3	28188	c.27985A>G	c.(27985-27987)Agc>Ggc	p.S9329G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9331	Ser-rich.|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						GATGTTCTGCTAGAAGAGATG	0.498													68	127					0	0	0	0	C	9059461	T	C	9059461	3	2	22	1	0	0	0	0	1	0	0	0	10043	1522	53	5	15866	5	MUC16	19	9059461	Missense_Mutation	SNP	T	TCGA-BA-A4IF-01A-11D-A25Y-08	13382	9059461	50069522	98	4611	48	2									
MUC16	94025	broad.mit.edu	37	chr19	9059462	9059462	+	Silent	SNP	A	A	T																															cctgggatggatgttctgctAgaagagatggcttctgtcct																										TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr19:9059462A>T	ENST00000397910.4	-	3	28187	c.27984T>A	c.(27982-27984)tcT>tcA	p.S9328S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9330	Ser-rich.|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						ATGTTCTGCTAGAAGAGATGG	0.493													70	128					0	0	0	0	T	9059462	A	T	9059462	2	4	22	1	0	0	0	0	0	0	0	1	10043	407	15	5		5	MUC16	19	9059462	Silent	SNP	A	TCGA-BA-A4IF-01A-11D-A25Y-08	1	9059462	50069521	99	4612	48	2									
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10224527	10224527	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgacctgctctgcgccCtgacgctgcccccgctggcc	3	7	11	20	4	2	1	1	1	1	0	2	2	2	1	5	1	4	3	5	1	0	0			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr19:10224527C>T	ENST00000428358.1	+	13	1732	c.1560C>T	c.(1558-1560)ccC>ccT	p.P520P	PPAN-P2RY11_ENST00000393796.4_Silent_p.L500L|P2RY11_ENST00000321826.4_Silent_p.L80L|PPAN_ENST00000556468.1_Silent_p.L500L	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		0					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GCTCTGCGCCCTGACGCTGCC	0.687											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	31					0	0	0	0	T	10224527	C	T	10224527	2	4	22	1	0	0	0	0	0	0	0	1	12360	680	24	4		4	PPAN-P2RY11	19	10224527	Silent	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	1165065	10224527	48904456	100	4613											
YIPF2	78992	broad.mit.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-																															gctgaaggtccagaatcccgGctgctgctgctgctgctgct																										TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)ccg>c	p.QP74del	YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621													7	136	---	---	---	---					-	11038364	GCT	-	11038362	7	5	22	1	0	1	0	1	0	0	0	0	17574	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-BA-A4IF-01A-11D-A25Y-08	813835	11038362	48090621	101	4614											
ZNF823	55552	broad.mit.edu	37	chr19	11833927	11833927	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgactgatggctttcccaCgttgtttatgtgtatatggc	7	16	11	7	1	0	2	0	2	0	0	1	3	1	2	1	2	0	4	1	2	3	6			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr19:11833927C>T	ENST00000545749.1	-	0	514				ZNF823_ENST00000440527.1_Intron|ZNF823_ENST00000341191.6_Missense_Mutation_p.R141H			P16415	ZN823_HUMAN	zinc finger protein 823						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						GGCTTTCCCACGTTGTTTATG	0.438										HNSCC(68;0.2)			23	143					0	0	0	0	T	11833927	C	T	11833927	1	4	22	1	0	0	0	0	0	0	0	0	18272	536	19	1		1	ZNF823	19	11833927	Translation_Start_Site	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	795565	11833927	47295056	102	4615											
EML2	24139	broad.mit.edu	37	chr19	46117912	46117912	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgtggcccattccatgttCctcacagcatccgcactggt	6	11	9	15	1	1	0	1	0	0	0	4	0	4	0	4	2	1	4	4	2	0	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr19:46117912C>T	ENST00000536630.1	-	20	2223	c.2085G>A	c.(2083-2085)agG>agA	p.R695R	EML2_ENST00000589876.1_Silent_p.R548R|EML2_ENST00000587152.1_Silent_p.R749R|EML2_ENST00000245925.3_Silent_p.R548R	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	548					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ATTCCATGTTCCTCACAGCAT	0.522													32	167					0	0	0	0	T	46117912	C	T	46117912	2	4	22	1	0	0	0	0	0	0	0	1	5135	854	30	2		2	EML2	19	46117912	Silent	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	34283985	46117912	13011071	103	4616											
PRKCG	5582	broad.mit.edu	37	chr19	54385908	54385908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgcagccactgcaccGacttcatctggtgagggaag	8	9	11	13	1	3	1	1	1	2	0	3	3	3	2	3	2	3	2	3	2	1	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr19:54385908G>T	ENST00000263431.3	+	1	442	c.160G>T	c.(160-162)Gac>Tac	p.D54Y	PRKCG_ENST00000540413.1_Missense_Mutation_p.D54Y|PRKCG_ENST00000536044.1_Missense_Mutation_p.D54Y	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	54					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCACTGCACCGACTTCATCTG	0.622													20	63					3.51602e-12	3.78648e-12	1	0	T	54385908	G	T	54385908	3	4	22	1	0	0	0	0	1	0	0	0	12592	1058	37	3	162	3	PRKCG	19	54385908	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	8267996	54385908	4743075	104	4617											
AURKC	6795	broad.mit.edu	37	chr19	57743153	57743153	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcccagcagcccagcCatgtgagtcccttgggattg	8	7	12	14	0	0	1	0	1	0	0	1	2	1	2	4	1	5	2	4	1	0	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr19:57743153C>A	ENST00000598785.1	+	0	167				AURKC_ENST00000448930.1_De_novo_Start_InFrame|AURKC_ENST00000415300.2_Silent_p.A15A|AURKC_ENST00000302804.7_Silent_p.A34A|AURKC_ENST00000599062.1_Silent_p.A31A			Q9UQB9	AURKC_HUMAN	aurora kinase C						cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		gcagcccagcCATGTGAGTCC	0.587													8	110					2.17888e-05	2.24296e-05	1	0	A	57743153	C	A	57743153	1	1	22	1	0	0	0	0	0	0	0	0	1228	581	21	4		4	AURKC	19	57743153	Translation_Start_Site	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	3357245	57743153	1385830	105	4618											
ZNF211	10520	broad.mit.edu	37	chr19	58153055	58153055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagacctcatgagtgcaatGaatgtggaaaatcctttagc	15	10	9	7	0	1	3	1	2	0	1	2	4	2	4	2	1	2	1	2	1	6	2			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr19:58153055G>A	ENST00000544273.1	+	5	1564	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	ZNF211_ENST00000541801.1_Missense_Mutation_p.E392K|ZNF211_ENST00000299871.5_Missense_Mutation_p.E466K|ZNF211_ENST00000240731.4_Missense_Mutation_p.E414K|ZNF211_ENST00000391703.3_Missense_Mutation_p.E340K|ZNF211_ENST00000347302.3_Missense_Mutation_p.E401K|ZNF211_ENST00000420680.1_Missense_Mutation_p.E405K|ZNF211_ENST00000254182.7_Missense_Mutation_p.E392K			Q13398	ZN211_HUMAN	zinc finger protein 211	401						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAGTGCAATGAATGTGGAAA	0.458													11	70					0	0	0	0	A	58153055	G	A	58153055	3	1	22	1	0	0	0	0	1	0	0	0	17862	1291	45	2	1254	2	ZNF211	19	58153055	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	409902	58153055	975928	106	4619											
NFATC2	4773	broad.mit.edu	37	chr20	50090571	50090571	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgattctgccactggactCtgggatgtgaactcggaaaa	11	9	12	9	2	2	1	0	1	2	0	3	6	2	4	1	3	2	0	1	3	3	1			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr20:50090571C>G	ENST00000371564.3	-	5	1873	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q	NFATC2_ENST00000414705.1_Missense_Mutation_p.E532Q|NFATC2_ENST00000396009.3_Missense_Mutation_p.E552Q	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	552	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCACTGGACTCTGGGATGTGA	0.537													21	83					0	0	0	0	G	50090571	C	G	50090571	3	3	22	1	0	0	0	0	1	0	0	0	10432	922	32	2	1195	2	NFATC2	20	50090571	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08		50090571	12934949	107	4620											
AURKA	6790	broad.mit.edu	37	chr20	54961341	54961341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcaggggctgcttgctCttttgggtgttattcagtgg	4	15	16	6	0	2	0	1	0	1	0	2	1	2	0	0	5	2	5	0	5	1	5			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr20:54961341C>A	ENST00000395909.4	-	5	856	c.291G>T	c.(289-291)aaG>aaT	p.K97N	AURKA_ENST00000395913.3_Missense_Mutation_p.K97N|AURKA_ENST00000395907.1_Missense_Mutation_p.K97N|AURKA_ENST00000312783.6_Missense_Mutation_p.K97N|AURKA_ENST00000395911.1_Missense_Mutation_p.K97N|AURKA_ENST00000395915.3_Missense_Mutation_p.K97N|AURKA_ENST00000395914.1_Missense_Mutation_p.K97N|AURKA_ENST00000347343.2_Missense_Mutation_p.K97N|AURKA_ENST00000371356.2_Missense_Mutation_p.K97N	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	97					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GCTGCTTGCTCTTTTGGGTGT	0.478													22	213					1.22574e-08	1.29025e-08	1	0	A	54961341	C	A	54961341	3	1	22	1	0	0	0	0	1	0	0	0	1225	912	32	2	948	2	AURKA	20	54961341	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	4870770	54961341	8064179	108	4621											
ADAMTS1	9510	broad.mit.edu	37	chr21	28210183	28210183	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaccagtcttctctgccaAcccaattcacatgacttaga	11	12	4	14	0	4	2	1	1	3	1	5	2	4	2	3	0	3	0	3	0	4	4			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr21:28210183A>G	ENST00000284984.2	-	9	3073	c.2619T>C	c.(2617-2619)ggT>ggC	p.G873G		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	873	TSP type-1 2.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTCTCTGCCAACCCAATTCAC	0.478													16	113					0	0	0	0	G	28210183	A	G	28210183	2	3	22	1	0	0	0	0	0	0	0	1	255	30	2	5		5	ADAMTS1	21	28210183	Silent	SNP	A	TCGA-BA-A4IF-01A-11D-A25Y-08		28210183	19919712	109	4622											
KRTAP13-4	284827	broad.mit.edu	37	chr21	31802793	31802793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagaaatcctgctaccGccccaggacctccatcctct	8	8	6	19	1	1	1	0	0	1	1	4	2	4	2	8	1	3	1	8	1	2	1	rs139497735	byFrequency	TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr21:31802793G>A	ENST00000334068.2	+	1	222	c.200G>A	c.(199-201)cGc>cAc	p.R67H		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	67	4 X 10 AA approximate repeats.					intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TCCTGCTACCGCCCCAGGACC	0.617													15	86					0	0	0	0	A	31802793	G	A	31802793	3	1	22	1	0	0	0	0	1	0	0	0	8577	1087	38	1	202	1	KRTAP13-4	21	31802793	Missense_Mutation	SNP	G	TCGA-BA-A4IF-01A-11D-A25Y-08	3592610	31802793	16327102	110	4623											
KLHL22	84861	broad.mit.edu	37	chr22	20819166	20819166	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcatcgggactctgctCgaaatccttggacattgttg	8	12	10	11	2	1	0	0	0	1	0	5	3	3	2	2	2	2	3	2	2	1	3			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr22:20819166C>A	ENST00000328879.4	-	4	1247	c.1091G>T	c.(1090-1092)cGa>cTa	p.R364L	KLHL22_ENST00000440659.2_Missense_Mutation_p.R221L	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	364					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGACTCTGCTCGAAATCCTTG	0.562													35	115					6.29468e-14	6.83144e-14	1	0	A	20819166	C	A	20819166	3	1	22	1	0	0	0	0	1	0	0	0	8429	884	31	3	829	3	KLHL22	22	20819166	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08		20819166	30485400	111	4624											
CYB5R3	1727	broad.mit.edu	37	chr22	43024193	43024193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagcccactggggcccCggaactcaatggtgtctcca	8	6	11	16	1	2	0	1	0	1	0	3	1	2	1	5	4	3	1	5	4	2	0			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr22:43024193C>T	ENST00000361740.4	-	5	526	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	CYB5R3_ENST00000402438.1_Missense_Mutation_p.R120Q|CYB5R3_ENST00000396303.3_Missense_Mutation_p.R120Q|CYB5R3_ENST00000352397.5_Missense_Mutation_p.R143Q|CYB5R3_ENST00000407332.1_Missense_Mutation_p.R120Q|CYB5R3_ENST00000407623.3_Missense_Mutation_p.R120Q	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	143					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity	p.R120Q(1)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	ACTGGGGCCCCGGAACTCAAT	0.562													13	210					0	0	0	0	T	43024193	C	T	43024193	3	4	22	1	0	0	0	0	1	0	0	0	4160	652	23	1	497	1	CYB5R3	22	43024193	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	22205027	43024193	8280373	112	4625											
HDAC10	83933	broad.mit.edu	37	chr22	50684138	50684138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgaggctccagctgccctCtcaggtacatcagggcctgg	7	8	12	14	0	2	1	2	1	1	0	4	1	3	1	3	4	3	3	3	4	1	1			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08D0D2A4-D35D-4D63-9027-0995F487D377	AA9E0B6F-0ADD-4DE6-BAE3-BE1F4E19081D	g.chr22:50684138C>G	ENST00000216271.5	-	19	2304	c.1952G>C	c.(1951-1953)aGa>aCa	p.R651T	HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.R601T|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.R631T	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	651					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCTGCCCTCTCAGGTACAT	0.662													4	43					0	0	0	0	G	50684138	C	G	50684138	3	3	22	1	0	0	0	0	1	0	0	0	7055	913	32	2	65	2	HDAC10	22	50684138	Missense_Mutation	SNP	C	TCGA-BA-A4IF-01A-11D-A25Y-08	7659945	50684138	620428	113	4626											
ANGPTL7	10218	broad.mit.edu	37	chr1	11254561	11254561	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgctgagtatagccactttgTtttgggcaatgaactcaaca	11	12	9	9	1	1	2	1	2	0	0	1	2	1	2	1	1	3	4	1	1	5	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr1:11254561T>A	ENST00000376819.3	+	4	955	c.716T>A	c.(715-717)gTt>gAt	p.V239D	MTOR_ENST00000361445.4_Intron|ANGPTL7_ENST00000476934.1_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	239	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AGCCACTTTGTTTTGGGCAAT	0.527													13	166					0	0	0	0	A	11254561	T	A	11254561	3	1	23	1	0	0	0	0	1	0	0	0	619	1725	60	5	730	5	ANGPTL7	1	11254561	Missense_Mutation	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08		11254561	237996060	1	4627											
ACTL8	81569	broad.mit.edu	37	chr1	18149579	18149579	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggccggctggaatgagcctCagatggtcttcccgaacatc	8	8	12	13	3	2	2	1	1	1	1	4	4	3	3	3	4	2	1	3	4	2	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr1:18149579C>T	ENST00000375406.1	+	2	292	c.76C>T	c.(76-78)Cag>Tag	p.Q26*		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	26						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GAATGAGCCTCAGATGGTCTT	0.597													21	59					0	0	0	0	T	18149579	C	T	18149579	4	4	23	1	0	0	0	0	0	1	0	0	202	827	29	2	78	2	ACTL8	1	18149579	Nonsense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	6895018	18149579	231101042	2	4628											
KIAA0319L	79932	broad.mit.edu	37	chr1	35936496	35936496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatctgggaatgtttccCttccatttctccactgtagt	7	15	9	10	0	2	0	0	0	2	0	5	3	4	2	3	2	0	2	3	2	2	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr1:35936496C>A	ENST00000325722.3	-	6	1315	c.1081G>T	c.(1081-1083)Ggg>Tgg	p.G361W	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	361	PKD 1.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAATGTTTCCCTTCCATTTCT	0.418													10	98					6.40141e-05	6.75058e-05	1	0	A	35936496	C	A	35936496	3	1	23	1	0	0	0	0	1	0	0	0	8220	681	24	4	2132	4	KIAA0319L	1	35936496	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	17786917	35936496	213314125	3	4629											
MRPS15	64960	broad.mit.edu	37	chr1	36926340	36926340	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggtttgcaacaatcttcTtcataaactgttcttgcttg	8	17	7	9	0	4	0	1	0	3	0	4	0	4	0	0	1	4	4	0	1	4	7			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr1:36926340T>C	ENST00000373116.5	-	5	499	c.338A>G	c.(337-339)aAg>aGg	p.K113R		NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	113					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AACAATCTTCTTCATAAACTG	0.512													21	46					0	0	0	0	C	36926340	T	C	36926340	3	2	23	1	0	0	0	0	1	0	0	0	9895	1609	56	5	451	5	MRPS15	1	36926340	Missense_Mutation	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08	989844	36926340	212324281	4	4630											
EIF2B3	8891	broad.mit.edu	37	chr1	45407265	45407265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaagtgatgcatcataagCtctaaacaggtccacaacct	15	8	7	11	0	2	1	1	1	1	0	3	1	3	1	2	1	5	3	2	1	5	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr1:45407265C>T	ENST00000360403.2	-	4	493	c.367G>A	c.(367-369)Gct>Act	p.A123T	EIF2B3_ENST00000372183.3_Missense_Mutation_p.A123T|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	123					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					GCATCATAAGCTCTAAACAGG	0.428													20	149					0	0	0	0	T	45407265	C	T	45407265	3	4	23	1	0	0	0	0	1	0	0	0	5038	797	28	4	1064	4	EIF2B3	1	45407265	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	8480925	45407265	203843356	5	4631											
JAK1	3716	broad.mit.edu	37	chr1	65304245	65304245	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcccgaaggcagaaatTccatgatgagcttaatacca	13	9	9	10	1	0	3	0	2	0	1	2	4	2	3	3	2	2	3	3	2	4	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr1:65304245T>G	ENST00000342505.4	-	21	3118	c.2870A>C	c.(2869-2871)gAa>gCa	p.E957A		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	957	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AGGCAGAAATTCCATGATGAG	0.413			Mis		ALL								18	51					0	0	0	0	G	65304245	T	G	65304245	3	3	23	1	0	0	0	0	1	0	0	0	7990	1783	62	5	614	5	JAK1	1	65304245	Missense_Mutation	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08	19896980	65304245	183946376	6	4632											
LPHN2	23266	broad.mit.edu	37	chr1	82433849	82433849	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcatgcagccacctaaccaAttttgcaattctcatggccc	10	11	6	14	0	1	0	1	0	1	0	2	0	1	0	4	1	5	3	4	1	3	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr1:82433849A>C	ENST00000370728.1	+	16	3122	c.2477A>C	c.(2476-2478)aAt>aCt	p.N826T	LPHN2_ENST00000370730.1_Missense_Mutation_p.N826T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.N826T|LPHN2_ENST00000394879.1_Missense_Mutation_p.N813T|LPHN2_ENST00000319517.6_Missense_Mutation_p.N813T|LPHN2_ENST00000370721.1_Missense_Mutation_p.N751T|LPHN2_ENST00000370713.1_Missense_Mutation_p.N813T|LPHN2_ENST00000335786.5_Missense_Mutation_p.N826T|LPHN2_ENST00000370723.1_Missense_Mutation_p.N813T|LPHN2_ENST00000359929.3_Missense_Mutation_p.N813T|LPHN2_ENST00000370715.1_Missense_Mutation_p.N813T|LPHN2_ENST00000370725.1_Missense_Mutation_p.N826T|LPHN2_ENST00000370717.2_Missense_Mutation_p.N826T|LPHN2_ENST00000370727.1_Missense_Mutation_p.N826T			O95490	LPHN2_HUMAN	latrophilin 2	826	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.N813S(1)|p.N826S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CACCTAACCAATTTTGCAATT	0.413													37	70					0	0	0	0	C	82433849	A	C	82433849	3	2	23	1	0	0	0	0	1	0	0	0	8980	101	4	5	2480	5	LPHN2	1	82433849	Missense_Mutation	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08	17129604	82433849	166816772	7	4633											
GBP7	388646	broad.mit.edu	37	chr1	89607325	89607325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggaagctctggaggacctCgtctgcctgaagaaccaaga	12	6	12	11	1	2	3	0	1	2	2	3	6	2	6	3	3	3	1	3	3	4	0			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr1:89607325C>T	ENST00000294671.2	-	9	1510	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	458						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TGGAGGACCTCGTCTGCCTGA	0.488													10	61					0	0	0	0	T	89607325	C	T	89607325	3	4	23	1	0	0	0	0	1	0	0	0	6328	893	31	1	556	1	GBP7	1	89607325	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	7173476	89607325	159643296	8	4634											
PRCC	5546	broad.mit.edu	37	chr1	156756871	156756871	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaagatggcagcaggttcaAgtggggccccttggatgcct	8	9	14	10	0	2	1	2	0	0	1	2	2	2	2	3	5	2	3	3	5	2	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr1:156756871A>G	ENST00000271526.4	+	3	1260	c.988A>G	c.(988-990)Agt>Ggt	p.S330G	PRCC_ENST00000353233.3_Missense_Mutation_p.S330G|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	330					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCAGGTTCAAGTGGGGCCCC	0.567			T	TFE3	papillary renal								41	251					0	0	0	0	G	156756871	A	G	156756871	3	3	23	1	0	0	0	0	1	0	0	0	12527	72	3	5	998	5	PRCC	1	156756871	Missense_Mutation	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08	67149546	156756871	92493750	9	4635											
ASPM	259266	broad.mit.edu	37	chr1	197073087	197073087	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gataatactgccgagcctttCtcattctgaaataagactgt	12	13	7	9	1	2	2	1	1	2	1	3	4	2	2	2	0	3	0	2	0	4	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr1:197073087C>G	ENST00000367409.4	-	18	5550	c.5294G>C	c.(5293-5295)aGa>aCa	p.R1765T	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1765	IQ 7.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCGAGCCTTTCTCATTCTGAA	0.358													48	167					0	0	0	0	G	197073087	C	G	197073087	3	3	23	1	0	0	0	0	1	0	0	0	1060	913	32	2	5183	2	ASPM	1	197073087	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	40316216	197073087	52177534	10	4636											
OBSCN	84033	broad.mit.edu	37	chr1	228558406	228558406	+	Frame_Shift_Del	DEL	C	C	-																															atgcctgcggaggaggcccaCttcatcaacaccaagcagct																										TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr1:228558406delC	ENST00000570156.2	+	104	23138	c.23064delC	c.(23062-23064)cafs	p.H7688fs	OBSCN_ENST00000422127.1_Frame_Shift_Del_p.H6731fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.H4365fs	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6731	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGAGGCCCACTTCATCAACA	0.612													11	89	---	---	---	---					-	228558406	C	-	228558406	7	5	23	1	0	1	0	1	0	0	0	0	10883	564	20	0	21769	0	OBSCN	1	228558406	Frame_Shift_Del	DEL	C	TCGA-BA-A4IG-01A-11D-A25Y-08	31485319	228558406	20692215	11	4637											
CHML	1122	broad.mit.edu	37	chr1	241798371	241798381	+	Frame_Shift_Del	DEL	AAATCAATATT	AAATCAATATT	-																															aatacagcagttttgacaccAaatcaatattaaacctcctg																										TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr1:241798371_241798381delAAATCAATATT	ENST00000366553.1	-	1	851_861	c.688_698delAATATTGATTT	c.(688-699)gfs	p.NIDL230fs	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	230					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTTTGACACCAAATCAATATTAAACCTCCTG	0.313													39	128	---	---	---	---					-	241798381	AAATCAATATT	-	241798371	7	5	23	1	0	1	0	1	0	0	0	0	3380	131	5	0	1276	0	CHML	1	241798371	Frame_Shift_Del	DEL	AAATCAATATT	TCGA-BA-A4IG-01A-11D-A25Y-08	13239965	241798371	7452250	12	4638											
NBAS	51594	broad.mit.edu	37	chr2	15496481	15496481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctttgtagtcatggaagcGaagtgcctgctccactaaaa	11	11	10	9	1	1	0	1	0	0	0	2	2	2	1	2	1	4	3	2	1	5	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr2:15496481G>A	ENST00000281513.5	-	33	3902	c.3877C>T	c.(3877-3879)Cgc>Tgc	p.R1293C	NBAS_ENST00000441750.1_Missense_Mutation_p.R1173C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1293										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCATGGAAGCGAAGTGCCTGC	0.448													18	42					0	0	0	0	A	15496481	G	A	15496481	3	1	23	1	0	0	0	0	1	0	0	0	10256	1058	37	1	3318	1	NBAS	2	15496481	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08		15496481	227702892	13	4639											
ALK	238	broad.mit.edu	37	chr2	29940550	29940550	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgtttgttggtgattcCaaggagctatgacctggaca	9	12	13	7	0	0	2	0	2	0	0	1	4	1	4	2	4	1	4	2	4	2	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr2:29940550C>G	ENST00000389048.3	-	2	1587	c.681G>C	c.(679-681)ttG>ttC	p.L227F	ALK_ENST00000431873.1_Missense_Mutation_p.L227F	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	227					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTGGTGATTCCAAGGAGCTAT	0.408			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	100					0	0	0	0	G	29940550	C	G	29940550	3	3	23	1	0	0	0	0	1	0	0	0	525	593	21	4	4293	4	ALK	2	29940550	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	14444069	29940550	213258823	14	4640											
PUS10	150962	broad.mit.edu	37	chr2	61181120	61181120	+	Frame_Shift_Del	DEL	T	T	-																															tttgttagatgagttattaaTtttctgtagtagcagaaaaa																										TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr2:61181120delT	ENST00000316752.6	-	14	1399	c.1138delA	c.(1138-1140)ttfs	p.I380fs	PUS10_ENST00000407787.1_Frame_Shift_Del_p.I380fs	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	380					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GAGTTATTAATTTTCTGTAGT	0.378													13	69	---	---	---	---					-	61181120	T	-	61181120	7	5	23	1	0	1	0	1	0	0	0	0	12913	1493	52	0	471	0	PUS10	2	61181120	Frame_Shift_Del	DEL	T	TCGA-BA-A4IG-01A-11D-A25Y-08	31240570	61181120	182018253	15	4641											
SLC4A5	57835	broad.mit.edu	37	chr2	74454961	74454961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccattcagggaggccacGcccatgtagaggaagactcc	11	6	12	12	1	1	2	1	0	0	2	2	4	2	4	4	3	1	1	4	3	2	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr2:74454961G>A	ENST00000423644.1	-	25	3110	c.2713C>T	c.(2713-2715)Cgt>Tgt	p.R905C	SLC4A5_ENST00000377632.1_Intron|SLC4A5_ENST00000377634.4_Silent_p.G964G|SLC4A5_ENST00000358683.4_Silent_p.G862G|SLC4A5_ENST00000357822.5_Silent_p.G964G|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000394019.2_Silent_p.G964G|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_Silent_p.G862G			Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	0						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.G964G(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGGAGGCCACGCCCATGTAGA	0.577													3	14					0	0	0	0	A	74454961	G	A	74454961	3	1	23	1	0	0	0	0	1	0	0	0	14745	1074	38	1	545	1	SLC4A5	2	74454961	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	13273841	74454961	168744412	16	4642											
LRRTM1	347730	broad.mit.edu	37	chr2	80530545	80530545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggttgggcatgggccGgaaggtggtgttgggcagtt	5	9	21	6	2	0	0	0	0	0	0	0	1	0	1	1	7	0	6	1	7	1	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr2:80530545G>C	ENST00000295057.3	-	2	1056	c.400C>G	c.(400-402)Cgg>Ggg	p.R134G	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R134G|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	134						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGCATGGGCCGGAAGGTGGTG	0.627										HNSCC(69;0.2)			8	88					0	0	0	0	C	80530545	G	C	80530545	3	2	23	1	0	0	0	0	1	0	0	0	9103	1115	39	3	1172	3	LRRTM1	2	80530545	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	6075584	80530545	162668828	17	4643											
RANBP2	5903	broad.mit.edu	37	chr2	109382596	109382596	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgggcatgtggatcaagaAaattcaccttcatttatgtt	11	16	8	6	0	3	1	3	0	0	1	3	2	3	2	1	2	0	2	1	2	4	6			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr2:109382596A>G	ENST00000283195.6	+	20	5727	c.5601A>G	c.(5599-5601)gaA>gaG	p.E1867E		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1867					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGGATCAAGAAAATTCACCTT	0.358													85	203					0	0	0	0	G	109382596	A	G	109382596	2	3	23	1	0	0	0	0	0	0	0	1	13110	11	1	5		5	RANBP2	2	109382596	Silent	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08	28852051	109382596	133816777	18	4644											
HS6ST1	9394	broad.mit.edu	37	chr2	129026418	129026418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtagcgggacacggggtctCgtagcagggtgatgtagtag	8	8	19	6	3	1	1	0	1	1	0	2	2	1	2	0	5	2	5	0	5	4	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr2:129026418C>T	ENST00000259241.6	-	2	567	c.554G>A	c.(553-555)cGa>cAa	p.R185Q		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	185	3'-phosphate binding (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CACGGGGTCTCGTAGCAGGGT	0.627													10	38					0	0	0	0	T	129026418	C	T	129026418	3	4	23	1	0	0	0	0	1	0	0	0	7420	884	31	1	685	1	HS6ST1	2	129026418	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	19643822	129026418	114172955	19	4645											
KIF5C	3800	broad.mit.edu	37	chr2	149806902	149806902	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtgggaactgcagaacCaccatcgtcatttgctgttc	8	12	11	10	1	1	1	1	0	0	1	3	2	1	2	2	2	4	3	2	2	2	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr2:149806902C>A	ENST00000435030.1	+	10	1262	c.894C>A	c.(892-894)acC>acA	p.T298T	KIF5C_ENST00000414838.2_Silent_p.T203T|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.T66T			O60282	KIF5C_HUMAN	kinesin family member 5C	298	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ACTGCAGAACCACCATCGTCA	0.478													8	48					5.18039e-06	5.52999e-06	1	0	A	149806902	C	A	149806902	2	1	23	1	0	0	0	0	0	0	0	1	8358	581	21	4		4	KIF5C	2	149806902	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	20780484	149806902	93392471	20	4646											
SLC38A11	151258	broad.mit.edu	37	chr2	165796058	165796058	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgaccaataaacacgttttCaggatcaactaaaacacaat	18	8	5	10	2	2	0	2	0	0	0	2	2	2	1	1	1	3	1	1	1	7	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr2:165796058C>G	ENST00000303735.4	-	4	535	c.205G>C	c.(205-207)Gaa>Caa	p.E69Q	SLC38A11_ENST00000409662.1_Missense_Mutation_p.E91Q|SLC38A11_ENST00000409149.3_Missense_Mutation_p.E91Q|SLC38A11_ENST00000409058.1_Missense_Mutation_p.E122Q	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	91					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						AACACGTTTTCAGGATCAACT	0.328													6	60					0	0	0	0	G	165796058	C	G	165796058	3	3	23	1	0	0	0	0	1	0	0	0	14691	835	29	2	977	2	SLC38A11	2	165796058	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	15989156	165796058	77403315	21	4647											
HNRNPA3	220988	broad.mit.edu	37	chr2	178082558	178082558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatggttacaatgaaggaGgaaattttggcggtggtaag	13	11	15	2	1	0	2	0	2	0	0	0	4	0	4	0	6	1	2	0	6	5	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr2:178082558G>A	ENST00000411529.2	+	8	931	c.880G>A	c.(880-882)Gga>Aga	p.G294R	HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G316R|HNRNPA3_ENST00000392524.2_Missense_Mutation_p.G316R	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	316	Gly-rich.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						CAATGAAGGAGGAAATTTTGG	0.403													34	125					0	0	0	0	A	178082558	G	A	178082558	3	1	23	1	0	0	0	0	1	0	0	0	7310	1001	35	4	976	4	HNRNPA3	2	178082558	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	12286500	178082558	65116815	22	4648											
TTN	7273	broad.mit.edu	37	chr2	179413855	179413855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcacagttgtctttgatGtgtctgttactttgaccact	7	17	8	9	0	3	2	1	2	2	0	3	2	3	2	1	0	2	3	1	0	1	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr2:179413855G>A	ENST00000589042.1	-	339	92722	c.92498C>T	c.(92497-92499)aCa>aTa	p.T30833I	TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T21768I|TTN_ENST00000359218.5_Missense_Mutation_p.T21893I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T28265I|TTN_ENST00000342175.6_Missense_Mutation_p.T21960I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T29192I|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29192	Fibronectin type-III 124.						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)			TGTCTTTGATGTGTCTGTTAC	0.458													33	93					0	0	0	0	A	179413855	G	A	179413855	3	1	23	1	0	0	0	0	1	0	0	0	16831	1377	48	4	15577	4	TTN	2	179413855	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	1331297	179413855	63785518	23	4649											
TTN	7273	broad.mit.edu	37	chr2	179593405	179593405	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgtctttaagccatttCactttgagttctggtgttcc	5	18	7	11	1	3	1	1	1	2	0	5	1	5	1	3	1	1	2	3	1	1	7			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr2:179593405C>A	ENST00000589042.1	-	66	19472	c.19248G>T	c.(19246-19248)gtG>gtT	p.V6416V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.V5172V|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.V6099V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6099	Ig-like 45.						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)			TAAGCCATTTCACTTTGAGTT	0.393													25	44					6.21321e-17	7.11249e-17	1	0	A	179593405	C	A	179593405	2	1	23	1	0	0	0	0	0	0	0	1	16831	813	29	2		2	TTN	2	179593405	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	179550	179593405	63605968	24	4650											
OR6B2	389090	broad.mit.edu	37	chr2	240969460	240969460	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaggacgtggtagcgcagCgggtggcagatggccacgta	10	5	17	9	4	0	1	0	0	0	1	0	2	0	2	1	5	2	4	1	5	3	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr2:240969460C>T	ENST00000402971.2	-	1	446	c.387G>A	c.(385-387)ccG>ccA	p.P129P		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GGTAGCGCAGCGGGTGGCAGA	0.597													4	31					0	0	0	0	T	240969460	C	T	240969460	2	4	23	1	0	0	0	0	0	0	0	1	11259	755	27	1		1	OR6B2	2	240969460	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	61376055	240969460	2229913	25	4651											
ACY1	95	broad.mit.edu	37	chr3	52022615	52022615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttttagccgggtctgcaagGatatgtgagcacgctggcca	8	10	13	10	2	1	1	0	1	1	0	1	2	1	2	2	3	3	3	2	3	3	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr3:52022615G>A	ENST00000458031.2	+	15	1498	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	ACY1_ENST00000476351.1_Missense_Mutation_p.D298N|ACY1_ENST00000404366.2_Missense_Mutation_p.D333N|ACY1_ENST00000494103.1_Missense_Mutation_p.D261N|ACY1_ENST00000476854.1_Missense_Mutation_p.D268N|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.D434N			Q03154	ACY1_HUMAN	aminoacylase 1	333					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	GGTCTGCAAGGATATGTGAGC	0.592													12	81					0	0	0	0	A	52022615	G	A	52022615	3	1	23	1	0	0	0	0	1	0	0	0	226	1174	41	2	1043	2	ACY1	3	52022615	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08		52022615	145999815	26	4652											
TLR9	54106	broad.mit.edu	37	chr3	52263740	52263740	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcggctcttgcagctGgagtagagcattcgctcctt	7	10	14	10	2	1	1	0	0	1	1	3	3	2	3	1	4	3	6	1	4	1	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr3:52263740G>A	ENST00000494383.1	-	4	399	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	TWF2_ENST00000305533.5_Silent_p.S273S|TLR9_ENST00000597542.1_Silent_p.S4S|TWF2_ENST00000499914.2_Intron			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCTTGCAGCTGGAGTAGAGCA	0.622													13	67					0	0	0	0	A	52263740	G	A	52263740	4	1	23	1	0	0	0	0	0	1	0	0	16052	1335	47	4		4	TLR9	3	52263740	Nonsense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	241125	52263740	145758690	27	4653											
SEMA3G	56920	broad.mit.edu	37	chr3	52469793	52469793	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaccacacgcgctcacaGtactcatccacccggggcag	9	5	9	18	3	2	0	2	0	0	0	3	0	3	0	3	2	2	4	3	2	1	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr3:52469793G>T	ENST00000231721.2	-	16	2174	c.2175C>A	c.(2173-2175)taC>taA	p.Y725*		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	725					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGCGCTCACAGTACTCATCCA	0.687													26	75					3.6726e-16	4.17668e-16	1	0	T	52469793	G	T	52469793	4	4	23	1	0	0	0	0	0	1	0	0	14117	1024	36	4	177	4	SEMA3G	3	52469793	Nonsense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	206053	52469793	145552637	28	4654											
ARHGEF3	50650	broad.mit.edu	37	chr3	56766330	56766330	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcacttctccatcctggagGtcttccagcaggaggtcttt	6	13	9	13	0	4	0	1	0	3	0	7	2	6	2	3	4	1	1	3	4	0	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr3:56766330G>A	ENST00000413728.2	-	9	1725	c.1182C>T	c.(1180-1182)gaC>gaT	p.D394D	ARHGEF3_ENST00000496106.1_Silent_p.D394D|ARHGEF3_ENST00000497267.1_Silent_p.D359D|ARHGEF3_ENST00000495373.1_Silent_p.D388D|ARHGEF3_ENST00000296315.3_Silent_p.D388D|ARHGEF3_ENST00000338458.4_Silent_p.D420D	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	388	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CATCCTGGAGGTCTTCCAGCA	0.542													26	87					0	0	0	0	A	56766330	G	A	56766330	2	1	23	1	0	0	0	0	0	0	0	1	906	1252	44	4		4	ARHGEF3	3	56766330	Silent	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	4296537	56766330	141256100	29	4655											
KIAA1407	57577	broad.mit.edu	37	chr3	113723568	113723568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgggagtcacttctgccttCagtcccaggggaagcaacag	9	8	12	12	1	3	0	2	0	1	0	5	2	4	2	2	3	3	1	2	3	2	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr3:113723568C>T	ENST00000295878.3	-	11	2040	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	KIAA1407_ENST00000545063.1_Missense_Mutation_p.E463K	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	632										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTTCTGCCTTCAGTCCCAGGG	0.453													31	175					0	0	0	0	T	113723568	C	T	113723568	3	4	23	1	0	0	0	0	1	0	0	0	8280	835	29	2	944	2	KIAA1407	3	113723568	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	56957238	113723568	84298862	30	4656											
TMEM39A	55254	broad.mit.edu	37	chr3	119153706	119153706	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgcaccagcaccccttgaGgccatattgtattttctgac	8	11	8	14	1	1	2	0	2	1	0	1	2	1	2	5	1	1	3	5	1	2	6			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr3:119153706G>C	ENST00000319172.5	-	8	1556	c.1136C>G	c.(1135-1137)cCt>cGt	p.P379R		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	379						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CACCCCTTGAGGCCATATTGT	0.453													22	101					0	0	0	0	C	119153706	G	C	119153706	3	2	23	1	0	0	0	0	1	0	0	0	16255	1000	35	4	338	4	TMEM39A	3	119153706	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	5430138	119153706	78868724	31	4657											
PARP14	54625	broad.mit.edu	37	chr3	122420291	122420291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctaccttgtggatgtatctGagaagactgttgaggccttt	8	15	11	7	0	2	3	0	2	2	2	2	5	2	4	2	2	1	2	2	2	3	5	rs76716529		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr3:122420291G>A	ENST00000474629.2	+	6	3156	c.2890G>A	c.(2890-2892)Gag>Aag	p.E964K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	964	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGATGTATCTGAGAAGACTGT	0.493													13	51					0	0	0	0	A	122420291	G	A	122420291	3	1	23	1	0	0	0	0	1	0	0	0	11529	1291	45	2	2912	2	PARP14	3	122420291	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	3266585	122420291	75602139	32	4658											
DNAJC13	23317	broad.mit.edu	37	chr3	132249931	132249931	+	Frame_Shift_Del	DEL	A	A	-																															tctgagtcacaaacagcaggAtacctcacaggtaagccata																										TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr3:132249931delA	ENST00000260818.6	+	55	6863	c.6615delA	c.(6613-6615)ggfs	p.G2205fs		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2205							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AAACAGCAGGATACCTCACAG	0.413													10	100	---	---	---	---					-	132249931	A	-	132249931	7	5	23	1	0	1	0	1	0	0	0	0	4668	320	12	0	6829	0	DNAJC13	3	132249931	Frame_Shift_Del	DEL	A	TCGA-BA-A4IG-01A-11D-A25Y-08	9829640	132249931	65772499	33	4659											
MME	4311	broad.mit.edu	37	chr3	154802000	154802000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatataactgatatcaacaCtccaaagccaaagaagaaac	20	6	6	9	0	1	3	1	1	0	2	2	4	2	4	2	1	4	0	2	1	8	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr3:154802000C>T	ENST00000460393.1	+	2	164	c.44C>T	c.(43-45)aCt>aTt	p.T15I	MME_ENST00000492661.1_Missense_Mutation_p.T15I|MME_ENST00000493237.1_Missense_Mutation_p.T15I|MME_ENST00000462745.1_Missense_Mutation_p.T15I|MME_ENST00000382989.3_Missense_Mutation_p.T15I|MME_ENST00000360490.2_Missense_Mutation_p.T15I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	15					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GATATCAACACTCCAAAGCCA	0.393													11	202					0	0	0	0	T	154802000	C	T	154802000	3	4	23	1	0	0	0	0	1	0	0	0	9714	565	20	4	46	4	MME	3	154802000	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	22552069	154802000	43220430	34	4660											
RSRC1	51319	broad.mit.edu	37	chr3	157841746	157841746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgagggaaatcctatagaGttcagaggtctaggtcaaaa	14	9	12	6	1	3	2	2	0	1	2	5	4	4	3	1	3	0	1	1	3	6	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr3:157841746G>T	ENST00000464171.1	+	3	411	c.286G>T	c.(286-288)Gtt>Ttt	p.V96F	RSRC1_ENST00000312179.6_Missense_Mutation_p.V96F|RSRC1_ENST00000295930.3_Missense_Mutation_p.V96F|RSRC1_ENST00000480820.1_Missense_Mutation_p.V96F|RSRC1_ENST00000475278.2_Missense_Mutation_p.V96F	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	96	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ATCCTATAGAGTTCAGAGGTC	0.408													12	90					1.08611e-07	1.18857e-07	1	0	T	157841746	G	T	157841746	3	4	23	1	0	0	0	0	1	0	0	0	13799	1029	36	4	292	4	RSRC1	3	157841746	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	3039746	157841746	40180684	35	4661											
TRIM59	286827	broad.mit.edu	37	chr3	160156358	160156358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccaacatcacagagagccGttaggaaacttttttttttc	11	14	7	9	1	1	1	1	0	0	1	2	3	1	2	2	1	4	1	2	1	3	6			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr3:160156358G>A	ENST00000543469.1	-	2	828	c.614C>T	c.(613-615)aCg>aTg	p.T205M	TRIM59_ENST00000309784.4_Missense_Mutation_p.T205M|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.T205M			Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	205						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACAGAGAGCCGTTAGGAAACT	0.358													117	133					0	0	0	0	A	160156358	G	A	160156358	3	1	23	1	0	0	0	0	1	0	0	0	16627	1145	40	1	601	1	TRIM59	3	160156358	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	2314612	160156358	37866072	36	4662											
PRKCI	5584	broad.mit.edu	37	chr3	169940505	169940505	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcccacacggtcgcaggCggcggcagcggggaccattc	7	5	15	14	5	0	0	0	0	0	0	3	1	1	1	2	6	1	2	2	6	0	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr3:169940505C>T	ENST00000295797.4	+	1	353	c.48C>T	c.(46-48)ggC>ggT	p.G16G		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	16	Regulatory domain.|Required for interaction with RAB2.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CGGTCGCAGGCGGCGGCAGCG	0.721													3	10					0	0	0	0	T	169940505	C	T	169940505	2	4	23	1	0	0	0	0	0	0	0	1	12594	755	27	1		1	PRKCI	3	169940505	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	9784147	169940505	28081925	37	4663											
CCDC39	339829	broad.mit.edu	37	chr3	180337659	180337659	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttacagctgttcagcacttGaagggtattttctagagcgt	9	14	11	7	1	2	2	1	1	1	1	2	2	2	2	0	1	4	5	0	1	4	7			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr3:180337659G>C	ENST00000442201.2	-	15	2217	c.2098C>G	c.(2098-2100)Caa>Gaa	p.Q700E	CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	700					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCAGCACTTGAAGGGTATTT	0.348													10	34					0	0	0	0	C	180337659	G	C	180337659	3	2	23	1	0	0	0	0	1	0	0	0	2837	1299	45	2	751	2	CCDC39	3	180337659	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	10397154	180337659	17684771	38	4664											
DCUN1D1	54165	broad.mit.edu	37	chr3	182665102	182665102	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattccaagtgtcttttggTattgatcgtttatgatgttc	8	19	9	5	1	1	3	0	2	1	1	4	3	2	3	1	1	0	3	1	1	3	8			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr3:182665102T>G	ENST00000292782.4	-	6	777	c.624A>C	c.(622-624)atA>atC	p.I208I	DCUN1D1_ENST00000469954.1_Silent_p.I193I	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	208	DCUN1.					ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TGTCTTTTGGTATTGATCGTT	0.303													4	40					0	0	0	0	G	182665102	T	G	182665102	2	3	23	1	0	0	0	0	0	0	0	1	4345	1628	57	5		5	DCUN1D1	3	182665102	Silent	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08	2327443	182665102	15357328	39	4665											
TP63	8626	broad.mit.edu	37	chr3	189611999	189611999	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccctgttgcacaggatcTggcaagtctgaaaatccctg	9	11	9	12	0	2	1	0	1	2	0	4	2	4	2	3	2	1	3	3	2	3	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr3:189611999T>G	ENST00000264731.3	+	14	1840	c.1751T>G	c.(1750-1752)cTg>cGg	p.L584R	TP63_ENST00000449992.1_Missense_Mutation_p.L405R|TP63_ENST00000392461.3_Silent_p.S410S|TP63_ENST00000456148.1_Missense_Mutation_p.L486R|TP63_ENST00000440651.2_Missense_Mutation_p.L580R|TP63_ENST00000354600.5_Missense_Mutation_p.L490R|TP63_ENST00000392460.3_Missense_Mutation_p.W553G|TP63_ENST00000392463.2_Missense_Mutation_p.W459G|TP63_ENST00000382063.4_Missense_Mutation_p.L499R|TP63_ENST00000320472.5_Silent_p.S504S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	584	SAM.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCACAGGATCTGGCAAGTCTG	0.502										HNSCC(45;0.13)			10	81					0	0	0	0	G	189611999	T	G	189611999	3	3	23	1	0	0	0	0	1	0	0	0	16487	1580	55	5	1970	5	TP63	3	189611999	Missense_Mutation	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08	6946897	189611999	8410431	40	4666											
GRK4	2868	broad.mit.edu	37	chr4	3031042	3031042	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcaaaaaatacaaagagaAagtcaaatgggaggaggtcg	20	6	11	4	1	2	1	2	0	0	1	3	4	2	3	0	3	1	0	0	3	7	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr4:3031042A>T	ENST00000398052.4	+	12	1518	c.1175A>T	c.(1174-1176)aAa>aTa	p.K392I	GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000345167.6_Missense_Mutation_p.K360I|GRK4_ENST00000504933.1_Missense_Mutation_p.K392I|GRK4_ENST00000398051.4_Missense_Mutation_p.K360I	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	392	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TACAAAGAGAAAGTCAAATGG	0.393													23	53					0	0	0	0	T	3031042	A	T	3031042	3	4	23	1	0	0	0	0	1	0	0	0	6841	14	1	5	1221	5	GRK4	4	3031042	Missense_Mutation	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08		3031042	188123234	41	4667											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69096989	69096989	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggctccacagtagtgacgGcctttccattgcatgctggc	7	10	12	12	1	0	1	0	1	0	0	2	2	2	1	3	3	2	4	3	3	1	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr4:69096989G>A	ENST00000332644.5	-	7	779	c.618C>T	c.(616-618)ggC>ggT	p.G206G		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	206	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AGTAGTGACGGCCTTTCCATT	0.473													9	53					0	0	0	0	A	69096989	G	A	69096989	2	1	23	1	0	0	0	0	0	0	0	1	16334	1190	42	4		4	TMPRSS11B	4	69096989	Silent	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	66065947	69096989	122057287	42	4668											
C1QTNF3	114899	broad.mit.edu	37	chr5	34033477	34033477	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgctgcccccgctcccctcGaggccccaggtcacctttgt	4	9	9	19	2	1	0	1	0	0	0	3	1	2	0	7	2	2	2	7	2	0	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr5:34033477G>A	ENST00000382065.3	-	3	1208	c.502C>T	c.(502-504)Cga>Tga	p.R168*	C1QTNF3_ENST00000231338.7_Nonsense_Mutation_p.R95*	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	95	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CGCTCCCCTCGAGGCCCCAGG	0.562													22	78					0	0	0	0	A	34033477	G	A	34033477	4	1	23	1	0	0	0	0	0	1	0	0	1983	1066	37	1	473	1	C1QTNF3	5	34033477	Nonsense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08		34033477	146881783	43	4669											
NUP155	9631	broad.mit.edu	37	chr5	37363995	37363995	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttaaatacatacccatcCtcatagttccacatgaatat	14	12	3	12	0	1	1	1	1	0	0	3	1	3	1	4	0	2	1	4	0	7	6			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr5:37363995C>T	ENST00000231498.3	-	3	590	c.387G>A	c.(385-387)gaG>gaA	p.E129E	NUP155_ENST00000381843.2_Silent_p.E70E|NUP155_ENST00000513532.1_Silent_p.E129E	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	129					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATACCCATCCTCATAGTTCC	0.393													41	52					0	0	0	0	T	37363995	C	T	37363995	2	4	23	1	0	0	0	0	0	0	0	1	10827	680	24	4		4	NUP155	5	37363995	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	3330518	37363995	143551265	44	4670											
FYB	2533	broad.mit.edu	37	chr5	39119657	39119657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaattttttcctgaagtCtttttcttctttttcctgct	5	25	3	8	0	3	1	0	1	3	0	5	1	5	1	2	0	1	1	2	0	3	10			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr5:39119657C>A	ENST00000351578.6	-	14	2270	c.2080G>T	c.(2080-2082)Gac>Tac	p.D694Y	FYB_ENST00000515010.1_Missense_Mutation_p.D694Y|FYB_ENST00000505428.1_Missense_Mutation_p.D740Y|FYB_ENST00000512982.1_Missense_Mutation_p.D740Y|FYB_ENST00000540520.1_Missense_Mutation_p.D750Y	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	694					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTCCTGAAGTCTTTTTCTTCT	0.294													3	4					0.115264	0.116604	1	0	A	39119657	C	A	39119657	3	1	23	1	0	0	0	0	1	0	0	0	6172	913	32	2	291	2	FYB	5	39119657	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	1755662	39119657	141795603	45	4671											
ERBB2IP	55914	broad.mit.edu	37	chr5	65350591	65350591	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagagtgctcgaccctctAttaatgaaataccagagaga	14	9	8	10	1	2	4	1	1	1	3	3	6	2	4	2	0	2	1	2	0	4	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr5:65350591A>T	ENST00000284037.5	+	21	3834	c.3445A>T	c.(3445-3447)Att>Ttt	p.I1149F	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.I1145F|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.I1149F	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1149					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TCGACCCTCTATTAATGAAAT	0.433													11	55					0	0	0	0	T	65350591	A	T	65350591	3	4	23	1	0	0	0	0	1	0	0	0	5245	449	16	5	3519	5	ERBB2IP	5	65350591	Missense_Mutation	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08	26230934	65350591	115564669	46	4672											
ZNF608	57507	broad.mit.edu	37	chr5	123983485	123983485	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccgacagtccatttgcCagcccttcattcttgttgag	7	13	8	13	1	2	1	1	1	1	0	4	3	4	1	4	0	2	1	4	0	0	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr5:123983485C>A	ENST00000306315.5	-	4	3027	c.2592G>T	c.(2590-2592)ctG>ctT	p.L864L	ZNF608_ENST00000504926.1_Silent_p.L437L	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	864						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GTCCATTTGCCAGCCCTTCAT	0.502													16	98					2.23348e-06	2.41383e-06	1	0	A	123983485	C	A	123983485	2	1	23	1	0	0	0	0	0	0	0	1	18129	581	21	4		4	ZNF608	5	123983485	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	58632894	123983485	56931775	47	4673											
SEPT8	23176	broad.mit.edu	37	chr5	132096852	132096852	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttctccttcagctccagCtctgtctccttcactttgtt	3	18	4	16	0	5	0	2	0	3	0	9	0	7	0	4	0	2	3	4	0	0	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr5:132096852C>G	ENST00000296873.7	-	8	1351	c.1068G>C	c.(1066-1068)gaG>gaC	p.E356D	SEPT8_ENST00000378699.2_Missense_Mutation_p.E296D|SEPT8_ENST00000378706.1_Missense_Mutation_p.E356D|SEPT8_ENST00000378701.1_Missense_Mutation_p.E354D|SEPT8_ENST00000378721.4_Missense_Mutation_p.E354D|SEPT8_ENST00000448933.1_Missense_Mutation_p.E296D|SEPT8_ENST00000458488.2_Missense_Mutation_p.E356D|SEPT8_ENST00000378719.2_Missense_Mutation_p.E356D	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	356					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGCTCCAGCTCTGTCTCCT	0.562													5	42					0	0	0	0	G	132096852	C	G	132096852	3	3	23	1	0	0	0	0	1	0	0	0	14157	796	28	4	450	4	SEPT8	5	132096852	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	8113367	132096852	48818408	48	4674											
NHLRC1	378884	broad.mit.edu	37	chr6	18122653	18122653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcactcgagggccagagtgCgcgggtgcgccagggcggcc	5	3	20	13	5	0	1	0	0	0	1	1	2	0	1	3	5	2	1	3	5	0	0			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr6:18122653C>T	ENST00000340650.3	-	1	198	c.185G>A	c.(184-186)cGc>cAc	p.R62H		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	62					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGCCAGAGTGCGCGGGTGCGC	0.701													3	17					0	0	0	0	T	18122653	C	T	18122653	3	4	23	1	0	0	0	0	1	0	0	0	10475	768	27	1	1006	1	NHLRC1	6	18122653	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08		18122653	152992414	49	4675											
FAM65B	9750	broad.mit.edu	37	chr6	24848286	24848286	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgaaggtgggcgtttcCggggtaccctggctgtacat	5	13	14	9	2	1	1	0	1	1	0	2	1	2	1	2	5	2	4	2	5	3	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr6:24848286C>T	ENST00000259698.4	-	12	1219	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P	FAM65B_ENST00000378023.4_Silent_p.P348P|FAM65B_ENST00000538035.1_Silent_p.P377P|FAM65B_ENST00000540914.1_Silent_p.P348P|FAM65B_ENST00000510784.2_Silent_p.P382P	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	348					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGGGCGTTTCCGGGGTACCCT	0.532													5	40					0	0	0	0	T	24848286	C	T	24848286	2	4	23	1	0	0	0	0	0	0	0	1	5646	639	23	1		1	FAM65B	6	24848286	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	6725633	24848286	146266781	50	4676											
CFB	629	broad.mit.edu	37	chr6	31907070	31907070	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcagagagatcctgaacAtcaaccagaagaggaatgac	18	6	9	8	0	2	6	2	2	0	4	3	8	3	7	2	1	2	0	2	1	5	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr6:31907070A>G	ENST00000556679.1	+	6	788	c.733A>G	c.(733-735)Atc>Gtc	p.I245V	CFB_ENST00000477310.1_Missense_Mutation_p.I216V|C2_ENST00000452323.2_Missense_Mutation_p.I184V|C2_ENST00000442278.2_Missense_Mutation_p.I266V|C2_ENST00000299367.5_Missense_Mutation_p.I398V|CFB_ENST00000456570.1_Missense_Mutation_p.I245V|C2_ENST00000469372.1_Missense_Mutation_p.I152V			P00751	CFAB_HUMAN	complement factor B	411					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						GATCCTGAACATCAACCAGAA	0.468													9	68					0	0	0	0	G	31907070	A	G	31907070	3	3	23	1	0	0	0	0	1	0	0	0	3307	217	8	5		5	CFB	6	31907070	Missense_Mutation	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08	7058784	31907070	139207997	51	4677											
TREM2	54209	broad.mit.edu	37	chr6	41130791	41130791	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggatcctacctgtgacaaaGagtaagatgagcagccggag	13	6	14	8	1	0	4	0	2	0	2	1	6	1	6	3	2	3	2	3	2	3	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr6:41130791G>C	ENST00000373113.3	-	1	123	c.30C>G	c.(28-30)ctC>ctG	p.L10L	TREM2_ENST00000373122.4_Silent_p.L10L|TREM2_ENST00000338469.3_Silent_p.L10L	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	10					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGTGACAAAGAGTAAGATGA	0.582													7	25					0	0	0	0	C	41130791	G	C	41130791	2	2	23	1	0	0	0	0	0	0	0	1	16566	929	33	2		2	TREM2	6	41130791	Silent	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	9223721	41130791	129984276	52	4678											
CDC5L	988	broad.mit.edu	37	chr6	44413455	44413455	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatggaaaagaagatgaaaAttttgcttgggggttaccag	15	10	13	3	0	0	4	0	1	0	3	0	5	0	5	1	3	2	2	1	3	6	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr6:44413455A>T	ENST00000371477.3	+	15	2454	c.2155A>T	c.(2155-2157)Att>Ttt	p.I719F		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	719	Interaction with PLRG1.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAAGATGAAAATTTTGCTTGG	0.463													18	65					0	0	0	0	T	44413455	A	T	44413455	3	4	23	1	0	0	0	0	1	0	0	0	3111	101	4	5	2213	5	CDC5L	6	44413455	Missense_Mutation	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08	3282664	44413455	126701612	53	4679											
BAI3	577	broad.mit.edu	37	chr6	70082307	70082307	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcttacagagaagaaaaTcacgatattcagaccttgac	17	10	6	8	1	3	4	2	1	1	3	3	6	3	4	1	0	1	0	1	0	6	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr6:70082307T>A	ENST00000370598.1	+	30	5070	c.4249T>A	c.(4249-4251)Tca>Aca	p.S1417T	BAI3_ENST00000546190.1_Missense_Mutation_p.S381T|BAI3_ENST00000238918.8_Missense_Mutation_p.S623T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1417					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGAAGAAAATCACGATATTC	0.214													7	23					0	0	0	0	A	70082307	T	A	70082307	3	1	23	1	0	0	0	0	1	0	0	0	1304	1435	50	5	4359	5	BAI3	6	70082307	Missense_Mutation	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08	25668852	70082307	101032760	54	4680											
TMEM181	57583	broad.mit.edu	37	chr6	158957802	158957802	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgcctttgagcccccgctCtgcagcgagctcaagcacct	6	8	9	18	2	2	1	1	1	1	0	2	2	2	1	5	0	6	4	5	0	1	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr6:158957802C>G	ENST00000367090.3	+	1	335	c.324C>G	c.(322-324)ctC>ctG	p.L108L		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	108					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		AGCCCCCGCTCTGCAGCGAGC	0.701													4	16					0	0	0	0	G	158957802	C	G	158957802	2	3	23	1	0	0	0	0	0	0	0	1	16194	900	32	2		2	TMEM181	6	158957802	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	88875495	158957802	12157265	55	4681											
OCM	654231	broad.mit.edu	37	chr7	5922148	5922148	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacacttttgaaccccaaaAattcttccagacatcaggcc	14	9	5	13	0	2	3	1	1	1	2	3	3	3	3	4	1	1	0	4	1	3	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr7:5922148A>T	ENST00000242104.5	+	2	178	c.86A>T	c.(85-87)aAa>aTa	p.K29I	OCM_ENST00000416608.1_Missense_Mutation_p.K29I	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin	29							calcium ion binding			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		GAACCCCAAAAATTCTTCCAG	0.453													34	94					0	0	0	0	T	5922148	A	T	5922148	3	4	23	1	0	0	0	0	1	0	0	0	10892	14	1	5	92	5	OCM	7	5922148	Missense_Mutation	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08		5922148	153216515	56	4682											
DGKB	1607	broad.mit.edu	37	chr7	14647094	14647094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagaaagactgtaaacCtgacgaggatttaatagata	16	11	8	6	1	0	4	0	1	0	3	1	6	1	5	2	1	1	1	2	1	6	6			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr7:14647094C>A	ENST00000403951.2	-	17	1820	c.1401G>T	c.(1399-1401)caG>caT	p.Q467H	DGKB_ENST00000406247.3_Missense_Mutation_p.Q467H|DGKB_ENST00000399322.3_Missense_Mutation_p.Q467H|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.Q448H|DGKB_ENST00000402815.1_Missense_Mutation_p.Q466H|DGKB_ENST00000258767.5_Missense_Mutation_p.Q467H|DGKB_ENST00000407950.1_Missense_Mutation_p.Q459H			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	467	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GACTGTAAACCTGACGAGGAT	0.284													6	31					0.00307968	0.00317079	1	0	A	14647094	C	A	14647094	3	1	23	1	0	0	0	0	1	0	0	0	4503	680	24	4	1068	4	DGKB	7	14647094	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	8724946	14647094	144491569	57	4683											
FIGNL1	63979	broad.mit.edu	37	chr7	50514663	50514663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactactcattttgaaaacaTtatttattgacaatccagac	15	14	3	9	0	1	3	1	2	0	1	2	3	2	3	1	0	2	0	1	0	6	7			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr7:50514663T>C	ENST00000419119.1	-	2	1876	c.323A>G	c.(322-324)aAt>aGt	p.N108S	FIGNL1_ENST00000395556.2_Missense_Mutation_p.N108S|FIGNL1_ENST00000433017.1_Missense_Mutation_p.N108S|FIGNL1_ENST00000435566.1_3'UTR|FIGNL1_ENST00000356889.4_Missense_Mutation_p.N108S			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	108					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTTGAAAACATTATTTATTGA	0.368													43	70					0	0	0	0	C	50514663	T	C	50514663	3	2	23	1	0	0	0	0	1	0	0	0	5937	1493	52	5	1705	5	FIGNL1	7	50514663	Missense_Mutation	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08	35867569	50514663	108624000	58	4684											
ZNF679	168417	broad.mit.edu	37	chr7	63720710	63720710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgttagagaactacagaAacctggtctccctgggtgag	11	10	12	8	0	1	4	0	2	1	2	2	5	1	4	2	2	3	1	2	2	4	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr7:63720710A>G	ENST00000421025.1	+	3	420	c.151A>G	c.(151-153)Aac>Gac	p.N51D	ZNF679_ENST00000255746.4_Missense_Mutation_p.N51D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GAACTACAGAAACCTGGTCTC	0.373													35	122					0	0	0	0	G	63720710	A	G	63720710	3	3	23	1	0	0	0	0	1	0	0	0	18181	14	1	5	157	5	ZNF679	7	63720710	Missense_Mutation	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08	13206047	63720710	95417953	59	4685											
PTPN12	5782	broad.mit.edu	37	chr7	77221564	77221564	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataacgtttgcaccatttaaAatttcttgtgtaagtatcca	13	16	5	7	1	1	0	0	0	1	0	2	0	2	0	2	0	2	4	2	0	5	8			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr7:77221564A>C	ENST00000248594.6	+	6	755	c.483A>C	c.(481-483)aaA>aaC	p.K161N	PTPN12_ENST00000435495.2_Missense_Mutation_p.K31N|PTPN12_ENST00000415482.2_Missense_Mutation_p.K42N	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	161	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CACCATTTAAAATTTCTTGTG	0.313													24	55					0	0	0	0	C	77221564	A	C	77221564	3	2	23	1	0	0	0	0	1	0	0	0	12861	11	1	5	505	5	PTPN12	7	77221564	Missense_Mutation	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08	13500854	77221564	81917099	60	4686											
RAB19	401409	broad.mit.edu	37	chr7	140110835	140110835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgggcagactcaaaagatGagcccccaaatctggaccaa	15	4	9	13	1	2	3	1	1	1	2	2	4	2	4	3	2	1	1	3	2	4	0			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr7:140110835G>A	ENST00000275874.5	+	3	462	c.264G>A	c.(262-264)atG>atA	p.M88I	RAB19_ENST00000356407.3_Intron|RAB19_ENST00000537763.1_Intron			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	67					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CTCAAAAGATGAGCCCCCAAA	0.493													26	117					0	0	0	0	A	140110835	G	A	140110835	3	1	23	1	0	0	0	0	1	0	0	0	12986	1305	45	2		2	RAB19	7	140110835	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	62889271	140110835	19027828	61	4687											
RHOBTB2	23221	broad.mit.edu	37	chr8	22863632	22863632	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgctgacctggaggctgtCaacagggctaggcgaccctt	8	8	13	12	2	1	1	1	1	0	0	1	3	1	2	2	4	2	3	2	4	3	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr8:22863632C>T	ENST00000251822.6	+	4	993	c.456C>T	c.(454-456)gtC>gtT	p.V152V	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Silent_p.V159V|RHOBTB2_ENST00000519685.1_Silent_p.V174V|RHOBTB2_ENST00000523918.1_3'UTR	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	152	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGGAGGCTGTCAACAGGGCTA	0.607													21	222					0	0	0	0	T	22863632	C	T	22863632	2	4	23	1	0	0	0	0	0	0	0	1	13417	813	29	2		2	RHOBTB2	8	22863632	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08		22863632	123500390	62	4688											
POTEA	340441	broad.mit.edu	37	chr8	43173690	43173690	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgctggcaatggtgatggtgGattagttccacaaagaaaga	13	10	13	5	0	0	3	0	1	0	2	1	4	1	4	1	4	1	3	1	4	4	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr8:43173690G>C	ENST00000522175.2	+	0	976							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTGATGGTGGATTAGTTCCA	0.413													74	70					0	0	0	0	C	43173690	G	C	43173690	1	2	23	0	1	0	0	0	0	0	0	0	12333	1174	41	2		2	POTEA	8	43173690	RNA	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	20310058	43173690	103190332	63	4689											
TGS1	96764	broad.mit.edu	37	chr8	56708566	56708566	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcccaaatttcagtcatcGgcaggtcaggtatttagaga	13	11	9	8	1	3	1	3	0	0	1	5	2	4	1	1	3	0	2	1	3	4	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr8:56708566G>C	ENST00000260129.5	+	7	1874	c.1397G>C	c.(1396-1398)cGg>cCg	p.R466P		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	466					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TTCAGTCATCGGCAGGTCAGG	0.343													21	67					0	0	0	0	C	56708566	G	C	56708566	3	2	23	1	0	0	0	0	1	0	0	0	15931	1116	39	3	1423	3	TGS1	8	56708566	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	13534876	56708566	89655456	64	4690											
MTFR1	9650	broad.mit.edu	37	chr8	66619352	66619352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaaagtacatctgctgttGatctgattaaagaacgaaga	16	10	8	7	1	2	4	0	2	2	2	2	5	2	4	1	0	3	3	1	0	6	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr8:66619352G>C	ENST00000262146.4	+	6	751	c.625G>C	c.(625-627)Gat>Cat	p.D209H	MTFR1_ENST00000458689.2_Missense_Mutation_p.D176H|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	209						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			ATCTGCTGTTGATCTGATTAA	0.483													19	100					0	0	0	0	C	66619352	G	C	66619352	3	2	23	1	0	0	0	0	1	0	0	0	9995	1290	45	2	643	2	MTFR1	8	66619352	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	9910786	66619352	79744670	65	4691											
TRPA1	8989	broad.mit.edu	37	chr8	72975102	72975102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaagtcaccattttgcaCagccaggtggagaggggtgg	9	9	14	9	0	1	1	1	0	0	1	2	2	2	1	3	5	2	1	3	5	1	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr8:72975102C>A	ENST00000262209.4	-	6	946	c.739G>T	c.(739-741)Gtg>Ttg	p.V247L		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	247						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CCATTTTGCACAGCCAGGTGG	0.398													7	76					0.000157383	0.000164968	1	0	A	72975102	C	A	72975102	3	1	23	1	0	0	0	0	1	0	0	0	16672	478	17	4	2708	4	TRPA1	8	72975102	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	6355750	72975102	73388920	66	4692											
CNGB3	54714	broad.mit.edu	37	chr8	87641148	87641148	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtaatctgccatgcttaccTagcattctttgagagtccca	9	13	8	11	0	2	1	0	1	2	1	3	2	3	1	3	1	4	3	3	1	3	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr8:87641148T>C	ENST00000320005.5	-	12	1526	c.1480_splice	c.e12+1	p.L493_splice		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	493					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CATGCTTACCTAGCATTCTTT	0.383													14	198					0	0	0	0	C	87641148	T	C	87641148	5	2	23	1	0	0	0	0	0	0	1	0	3631	1536	53	5	978	5	CNGB3	8	87641148	Splice_Site	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08	14666046	87641148	58722874	67	4693											
OTUD6B	51633	broad.mit.edu	37	chr8	92083370	92083370	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaatggcttttcagccaaAattcagggcatgaagaatgc	13	12	9	7	0	2	2	2	1	0	1	2	2	2	2	1	2	2	2	1	2	5	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr8:92083370A>T	ENST00000285420.4	+	2	276	c.177A>T	c.(175-177)aaA>aaT	p.K59N	OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	29										endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			TTTCAGCCAAAATTCAGGGCA	0.438													17	82					0	0	0	0	T	92083370	A	T	92083370	3	4	23	1	0	0	0	0	1	0	0	0	11388	11	1	5	183	5	OTUD6B	8	92083370	Missense_Mutation	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08	4442222	92083370	54280652	68	4694											
VPS13B	157680	broad.mit.edu	37	chr8	100779109	100779109	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactgcagttgccggatatCaatctcgtgaatgaccagaa	13	9	10	9	2	2	3	1	2	1	1	3	5	2	4	2	1	3	2	2	1	5	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr8:100779109C>T	ENST00000358544.2	+	40	7344	c.7233C>T	c.(7231-7233)atC>atT	p.I2411I	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.I2386I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2411					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGCCGGATATCAATCTCGTGA	0.383													8	87					0	0	0	0	T	100779109	C	T	100779109	2	4	23	1	0	0	0	0	0	0	0	1	17286	816	29	2		2	VPS13B	8	100779109	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	8695739	100779109	45584913	69	4695											
ATAD2	29028	broad.mit.edu	37	chr8	124346146	124346146	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaagccacaggagtactCggtgtctttagcttttcatt	8	14	9	10	1	2	0	1	0	1	0	3	1	2	1	1	2	4	3	1	2	3	6	rs147456124	byFrequency	TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr8:124346146C>T	ENST00000287394.5	-	24	3557	c.3450G>A	c.(3448-3450)ccG>ccA	p.P1150P	ATAD2_ENST00000521903.1_Silent_p.P468P	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAGGAGTACTCGGTGTCTTTA	0.388													44	67					0	0	0	0	T	124346146	C	T	124346146	2	4	23	1	0	0	0	0	0	0	0	1	1075	871	31	1		1	ATAD2	8	124346146	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	23567037	124346146	22017876	70	4696											
KIAA1432	57589	broad.mit.edu	37	chr9	5769097	5769097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcagcccagctgggctttGaactaattagttggctatgc	8	13	11	9	0	0	1	0	1	0	0	0	1	0	1	1	2	5	5	1	2	4	6			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr9:5769097G>A	ENST00000414202.2	+	22	3456	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	KIAA1432_ENST00000251879.6_Missense_Mutation_p.E1089K|KIAA1432_ENST00000381532.2_Missense_Mutation_p.E1010K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E973K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1010K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1089						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GCTGGGCTTTGAACTAATTAG	0.498													18	178					0	0	0	0	A	5769097	G	A	5769097	3	1	23	1	0	0	0	0	1	0	0	0	8284	1291	45	2	3110	2	KIAA1432	9	5769097	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08		5769097	135444334	71	4697											
UBAP2	55833	broad.mit.edu	37	chr9	33943557	33943560	+	Frame_Shift_Del	DEL	AACC	AACC	-																															taatcctgtgacatctgctgAaccaggcatttccactgcag																										TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr9:33943557_33943560delAACC	ENST00000379238.1	-	15	1690_1693	c.1573_1576delGGTT	c.(1573-1578)cafs	p.GS525fs	UBAP2_ENST00000360802.1_Frame_Shift_Del_p.GS525fs|UBAP2_ENST00000539807.1_Frame_Shift_Del_p.GS280fs|UBAP2_ENST00000379225.1_Frame_Shift_Del_p.GS158fs|UBAP2_ENST00000379239.4_Frame_Shift_Del_p.GS258fs|UBAP2_ENST00000449054.1_Frame_Shift_Del_p.GS525fs|UBAP2_ENST00000418786.2_Frame_Shift_Del_p.GS472fs			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	525										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACATCTGCTGAACCAGGCATTTCC	0.471													12	71	---	---	---	---					-	33943560	AACC	-	33943557	7	5	23	1	0	1	0	1	0	0	0	0	16933	246	9	0	1843	0	UBAP2	9	33943557	Frame_Shift_Del	DEL	AACC	TCGA-BA-A4IG-01A-11D-A25Y-08	28174460	33943557	107269874	72	4698											
RUSC2	9853	broad.mit.edu	37	chr9	35555103	35555103	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcgctacagcaaggaacaGaggccaaccacactgcccat	13	5	8	15	1	0	1	0	0	0	1	1	2	0	2	3	2	5	2	3	2	4	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr9:35555103G>C	ENST00000455600.1	+	3	2630	c.2061G>C	c.(2059-2061)caG>caC	p.Q687H		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	687						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCAAGGAACAGAGGCCAACCA	0.582													32	89					0	0	0	0	C	35555103	G	C	35555103	3	2	23	1	0	0	0	0	1	0	0	0	13836	933	33	2	2067	2	RUSC2	9	35555103	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	1611546	35555103	105658328	73	4699											
IARS	3376	broad.mit.edu	37	chr9	95027389	95027389	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccacagcgtgaaggaaTggtcaggtggtcaacactaa	12	8	11	10	1	2	1	2	1	0	0	3	2	3	2	1	4	2	0	1	4	4	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr9:95027389T>G	ENST00000375643.3	-	16	1788	c.1522A>C	c.(1522-1524)Att>Ctt	p.I508L	IARS_ENST00000447699.2_Missense_Mutation_p.I398L|IARS_ENST00000443024.2_Missense_Mutation_p.I508L|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	508					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CGTGAAGGAATGGTCAGGTGG	0.433													6	23					0	0	0	0	G	95027389	T	G	95027389	3	3	23	1	0	0	0	0	1	0	0	0	7526	1464	51	5	2342	5	IARS	9	95027389	Missense_Mutation	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08	59472286	95027389	46186042	74	4700											
C9orf84	158401	broad.mit.edu	37	chr9	114500747	114500747	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcttctttaacagaaaaTatctttttcaaatctgtaac	13	18	2	8	0	5	1	1	0	4	1	5	1	5	1	0	0	2	1	0	0	6	8			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr9:114500747T>A	ENST00000394779.3	-	8	1165	c.921A>T	c.(919-921)atA>atT	p.I307I	C9orf84_ENST00000374283.5_Silent_p.I410I|C9orf84_ENST00000318737.4_Silent_p.I346I|C9orf84_ENST00000394777.4_Silent_p.I307I|C9orf84_ENST00000374287.3_Silent_p.I346I	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	346										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TAACAGAAAATATCTTTTTCA	0.333													32	92					0	0	0	0	A	114500747	T	A	114500747	2	1	23	1	0	0	0	0	0	0	0	1	2525	1396	49	5		5	C9orf84	9	114500747	Silent	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08	19473358	114500747	26712684	75	4701											
RAPGEF1	2889	broad.mit.edu	37	chr9	134526228	134526228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttctctggaatctttacgGacacctcagctggttttccc	6	14	8	13	1	3	0	1	0	2	0	5	2	4	2	2	3	2	3	2	3	2	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr9:134526228G>A	ENST00000372195.1	-	2	413	c.170C>T	c.(169-171)tCc>tTc	p.S57F	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.S40F|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S58F			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	40					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AATCTTTACGGACACCTCAGC	0.458													14	150					0	0	0	0	A	134526228	G	A	134526228	3	1	23	1	0	0	0	0	1	0	0	0	13125	1174	41	2	3206	2	RAPGEF1	9	134526228	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	20025481	134526228	6687203	76	4702											
SURF2	6835	broad.mit.edu	37	chr9	136227943	136227943	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccacagaagcagttgggCtcgttgaaaaagaagttcaa	15	8	10	8	1	1	3	1	1	0	2	3	3	2	3	1	1	1	5	1	1	5	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr9:136227943C>G	ENST00000371964.4	+	6	740	c.699C>G	c.(697-699)ggC>ggG	p.G233G		NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN	surfeit 2	233							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGCAGTTGGGCTCGTTGAAAA	0.493													10	162					0	0	0	0	G	136227943	C	G	136227943	2	3	23	1	0	0	0	0	0	0	0	1	15494	784	28	4		4	SURF2	9	136227943	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	1701715	136227943	4985488	77	4703											
CUBN	8029	broad.mit.edu	37	chr10	16873292	16873292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatttcatatccacgatcaGaagttacactatcactctta	13	14	4	10	1	4	2	3	1	1	1	5	3	5	2	1	0	1	1	1	0	5	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr10:16873292G>A	ENST00000377833.4	-	65	10552	c.10487C>T	c.(10486-10488)tCt>tTt	p.S3496F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3496	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCACGATCAGAAGTTACACT	0.403													22	70					0	0	0	0	A	16873292	G	A	16873292	3	1	23	1	0	0	0	0	1	0	0	0	4083	942	33	2	396	2	CUBN	10	16873292	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08		16873292	118661455	78	4704											
MYO3A	53904	broad.mit.edu	37	chr10	26463414	26463414	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggaaatcaataacatcaaGaagaaggataacaaagactc	22	5	8	6	0	2	3	2	0	0	3	3	6	2	5	0	2	2	0	0	2	8	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr10:26463414G>A	ENST00000265944.5	+	30	4387	c.4221G>A	c.(4219-4221)aaG>aaA	p.K1407K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1407					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATAACATCAAGAAGAAGGATA	0.328													28	79					0	0	0	0	A	26463414	G	A	26463414	2	1	23	1	0	0	0	0	0	0	0	1	10146	933	33	2		2	MYO3A	10	26463414	Silent	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	9590122	26463414	109071333	79	4705											
HIF1AN	55662	broad.mit.edu	37	chr10	102295856	102295856	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccattccgcgtctgagtcaGagcgacccccgggcagagga	8	5	13	15	4	2	3	1	1	1	2	3	5	3	4	4	2	1	1	4	2	0	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr10:102295856G>C	ENST00000299163.5	+	1	241	c.141G>C	c.(139-141)caG>caC	p.Q47H		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	47	Interaction with VHL.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		GTCTGAGTCAGAGCGACCCCC	0.642											OREG0020442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	14					0	0	0	0	C	102295856	G	C	102295856	3	2	23	1	0	0	0	0	1	0	0	0	7154	933	33	2	143	2	HIF1AN	10	102295856	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	75832442	102295856	33238891	80	4706											
ANO3	63982	broad.mit.edu	37	chr11	26681950	26681950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaacatttgcaacaacaaCggagaaaaagtggtcagcct	16	7	10	8	1	1	1	1	0	0	1	1	3	1	2	1	3	6	1	1	3	6	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr11:26681950C>T	ENST00000256737.3	+	27	3757	c.2905C>T	c.(2905-2907)Cgg>Tgg	p.R969W	ANO3_ENST00000537978.1_Missense_Mutation_p.R953W|ANO3_ENST00000531568.1_Missense_Mutation_p.R823W|ANO3_ENST00000525139.1_Missense_Mutation_p.R953W	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	969						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GCAACAACAACGGAGAAAAAG	0.428													19	61					0	0	0	0	T	26681950	C	T	26681950	3	4	23	1	0	0	0	0	1	0	0	0	697	527	19	1	3011	1	ANO3	11	26681950	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08		26681950	108324566	81	4707											
INPPL1	3636	broad.mit.edu	37	chr11	71946742	71946742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatcagcattgataaggatGaggcaggagcaaagagcaaa	17	5	14	5	0	1	3	1	2	0	1	1	6	1	6	0	4	3	4	0	4	3	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr11:71946742G>A	ENST00000298229.2	+	24	2887	c.2683G>A	c.(2683-2685)Gag>Aag	p.E895K	INPPL1_ENST00000538751.1_Missense_Mutation_p.E653K|INPPL1_ENST00000541756.1_Missense_Mutation_p.E653K	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	895					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGATAAGGATGAGGCAGGAGC	0.602													27	51					0	0	0	0	A	71946742	G	A	71946742	3	1	23	1	0	0	0	0	1	0	0	0	7814	1291	45	2	2777	2	INPPL1	11	71946742	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	45264792	71946742	63059774	82	4708											
OR10S1	219873	broad.mit.edu	37	chr11	123847864	123847864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcccacagtagagcaggcGgaaggtgagggaggtgtgga	11	4	20	6	1	0	2	0	1	0	1	0	5	0	5	1	7	1	2	1	7	2	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr11:123847864G>A	ENST00000531945.1	-	1	624	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R179C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAGAGCAGGCGGAAGGTGAGG	0.552													17	33					0	0	0	0	A	123847864	G	A	123847864	3	1	23	1	0	0	0	0	1	0	0	0	10989	1116	39	1	464	1	OR10S1	11	123847864	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	51901122	123847864	11158652	83	4709											
SLC2A3	6515	broad.mit.edu	37	chr12	8077033	8077033	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaaagaaacagtcatgagCgtggaacaaaaagccatccc	19	4	8	10	1	1	2	1	1	0	1	2	3	2	3	2	1	5	0	2	1	6	0			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr12:8077033C>G	ENST00000075120.7	-	8	1281	c.1041G>C	c.(1039-1041)acG>acC	p.T347T		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	347					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CAGTCATGAGCGTGGAACAAA	0.438													12	59					0	0	0	0	G	8077033	C	G	8077033	2	3	23	1	0	0	0	0	0	0	0	1	14633	755	27	3		3	SLC2A3	12	8077033	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08		8077033	125774862	84	4710											
ERGIC2	51290	broad.mit.edu	37	chr12	29514592	29514592	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattacctctgccactctttCtgctgtggtgaaagatcaaa	10	14	7	10	0	4	2	1	1	3	1	4	2	4	2	2	1	3	1	2	1	4	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr12:29514592C>T	ENST00000360150.4	-	6	435	c.360G>A	c.(358-360)caG>caA	p.Q120Q		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	120					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	GCCACTCTTTCTGCTGTGGTG	0.289													30	87					0	0	0	0	T	29514592	C	T	29514592	2	4	23	1	0	0	0	0	0	0	0	1	5262	912	32	2		2	ERGIC2	12	29514592	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	21437559	29514592	104337303	85	4711											
ARID2	196528	broad.mit.edu	37	chr12	46245425	46245425	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctggcaaccaggtaacCataacagttgtgccaaatac	14	9	7	11	0	1	0	0	0	1	0	1	0	1	0	3	2	5	3	3	2	5	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr12:46245425C>A	ENST00000334344.6	+	15	3691	c.3519C>A	c.(3517-3519)acC>acA	p.T1173T	ARID2_ENST00000422737.1_Silent_p.T1024T|ARID2_ENST00000444670.1_Silent_p.T783T|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1173					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACCAGGTAACCATAACAGTTG	0.468			"N, S, F"		hepatocellular carcinoma								7	90					1.06961e-07	1.17793e-07	1	0	A	46245425	C	A	46245425	2	1	23	1	0	0	0	0	0	0	0	1	917	581	21	4		4	ARID2	12	46245425	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	16730833	46245425	87606470	86	4712											
NTN4	59277	broad.mit.edu	37	chr12	96107023	96107023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagcccccgttttgccatCagctgcctcccatggccggt	4	9	12	16	2	1	0	1	0	0	0	2	1	2	1	6	3	4	2	6	3	0	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr12:96107023C>T	ENST00000343702.4	-	4	1406	c.958G>A	c.(958-960)Gat>Aat	p.D320N	NTN4_ENST00000344911.4_Missense_Mutation_p.D283N|NTN4_ENST00000538383.1_Missense_Mutation_p.D283N|NTN4_ENST00000553059.1_Missense_Mutation_p.D320N	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	320	Laminin EGF-like 1.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTTTTGCCATCAGCTGCCTCC	0.517													10	55					0	0	0	0	T	96107023	C	T	96107023	3	4	23	1	0	0	0	0	1	0	0	0	10773	826	29	2	956	2	NTN4	12	96107023	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	49861598	96107023	37744872	87	4713											
ANKLE2	23141	broad.mit.edu	37	chr12	133327346	133327346	+	Missense_Mutation	SNP	C	C	T																															agcaaatttctcagcgtcttCtctggtagaaaaagctttaa																										TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr12:133327346C>T	ENST00000539605.1	-	2	7228	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	ANKLE2_ENST00000357997.5_Missense_Mutation_p.E244K|ANKLE2_ENST00000337516.5_Missense_Mutation_p.E244K			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	244						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCAGCGTCTTCTCTGGTAGAA	0.393													33	86					0	0	0	0	T	133327346	C	T	133327346	3	4	23	1	0	0	0	0	1	0	0	0	633	922	32	2	2130	2	ANKLE2	12	133327346	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	37220323	133327346	524549	88	4714	49	2									
ANKLE2	23141	broad.mit.edu	37	chr12	133327347	133327347	+	Missense_Mutation	SNP	T	T	A																															gcaaatttctcagcgtcttcTctggtagaaaaagctttaaa																										TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr12:133327347T>A	ENST00000539605.1	-	2	7227	c.543A>T	c.(541-543)agA>agT	p.R181S	ANKLE2_ENST00000357997.5_Missense_Mutation_p.R243S|ANKLE2_ENST00000337516.5_Missense_Mutation_p.R243S			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	243						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CAGCGTCTTCTCTGGTAGAAA	0.388													33	88					0	0	0	0	A	133327347	T	A	133327347	3	1	23	1	0	0	0	0	1	0	0	0	633	1548	54	5	2131	5	ANKLE2	12	133327347	Missense_Mutation	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08	1	133327347	524548	89	4715	49	2									
DCT	1638	broad.mit.edu	37	chr13	95092186	95092186	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatctcttgctgcttaaaTgtgtctccattaggggtgta	7	17	10	7	0	2	0	0	0	2	0	4	0	2	0	1	2	2	4	1	2	5	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr13:95092186T>C	ENST00000377028.5	-	8	1939	c.1526A>G	c.(1525-1527)cAt>cGt	p.H509R	DCT_ENST00000446125.1_Missense_Mutation_p.H542R	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	509					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GCTGCTTAAATGTGTCTCCAT	0.453													25	60					0	0	0	0	C	95092186	T	C	95092186	3	2	23	1	0	0	0	0	1	0	0	0	4336	1464	51	5	37	5	DCT	13	95092186	Missense_Mutation	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08		95092186	20077692	90	4716											
TMCO3	55002	broad.mit.edu	37	chr13	114150217	114150217	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagagctgaatgaaagtgaAaattccgttttccaagctgt	15	11	9	6	1	0	4	0	3	0	1	2	4	2	4	2	0	2	3	2	0	6	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr13:114150217A>G	ENST00000434316.2	+	2	680	c.321A>G	c.(319-321)gaA>gaG	p.E107E	TMCO3_ENST00000375391.1_Silent_p.E107E|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	107						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ATGAAAGTGAAAATTCCGTTT	0.502													17	20					0	0	0	0	G	114150217	A	G	114150217	2	3	23	1	0	0	0	0	0	0	0	1	16091	11	1	5		5	TMCO3	13	114150217	Silent	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08	19058031	114150217	1019661	91	4717											
OR4M1	441670	broad.mit.edu	37	chr14	20249099	20249099	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtagtagtggtctgatCtctgtggtgtgtttcattgc	5	18	12	6	0	4	1	1	1	3	0	5	1	4	1	0	2	1	3	0	2	2	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr14:20249099C>A	ENST00000315957.4	+	1	699	c.618C>A	c.(616-618)atC>atA	p.I206I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGTCTGATCTCTGTGGTGT	0.473													21	333					1.50039e-11	1.68431e-11	1	0	A	20249099	C	A	20249099	2	1	23	1	0	0	0	0	0	0	0	1	11146	903	32	2		2	OR4M1	14	20249099	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08		20249099	87100441	92	4718											
ARHGAP5	394	broad.mit.edu	37	chr14	32560921	32560921	+	Frame_Shift_Del	DEL	T	T	-																															accaagagcttttaacactcTtttgccaaatctagaagaga																										TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr14:32560921delT	ENST00000345122.3	+	2	1361	c.1046delT	c.(1045-1047)ctfs	p.L350fs	ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.L350fs|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.L350fs|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.L350fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	350					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTTAACACTCTTTTGCCAAAT	0.313													60	171	---	---	---	---					-	32560921	T	-	32560921	7	5	23	1	0	1	0	1	0	0	0	0	888	1609	56	0	1048	0	ARHGAP5	14	32560921	Frame_Shift_Del	DEL	T	TCGA-BA-A4IG-01A-11D-A25Y-08	12311822	32560921	74788619	93	4719											
MAP3K9	4293	broad.mit.edu	37	chr14	71205062	71205062	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcctcctcctccccttcctCctttgggacgactgagctcc	3	12	6	20	1	0	1	0	1	0	0	7	3	7	2	8	1	1	1	8	1	0	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr14:71205062C>G	ENST00000554752.2	-	8	1743	c.1744G>C	c.(1744-1746)Gag>Cag	p.E582Q	MAP3K9_ENST00000553414.1_Missense_Mutation_p.E324Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E582Q|MAP3K9_ENST00000554146.1_Missense_Mutation_p.E319Q|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E582Q			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	582					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCCCCTTCCTCCTTTGGGACG	0.572													17	85					0	0	0	0	G	71205062	C	G	71205062	3	3	23	1	0	0	0	0	1	0	0	0	9326	864	30	2	1636	2	MAP3K9	14	71205062	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	38644141	71205062	36144478	94	4720											
PPP4R4	57718	broad.mit.edu	37	chr14	94708174	94708174	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttggaattttataagaaActttgtacattgggtttgca	11	19	8	3	0	0	1	0	0	0	1	0	2	0	2	0	2	3	3	0	2	5	9			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr14:94708174A>T	ENST00000304338.3	+	10	1180	c.1026A>T	c.(1024-1026)aaA>aaT	p.K342N		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	342						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTTATAAGAAACTTTGTACAT	0.318													24	86					0	0	0	0	T	94708174	A	T	94708174	3	4	23	1	0	0	0	0	1	0	0	0	12481	40	2	5	1137	5	PPP4R4	14	94708174	Missense_Mutation	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08	23503112	94708174	12641366	95	4721											
LTK	4058	broad.mit.edu	37	chr15	41804923	41804923	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagatactggccagggcccGgcacgcgccacagctgcacg	9	3	13	16	4	0	1	0	0	0	1	0	1	0	1	3	3	3	3	3	3	1	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr15:41804923G>C	ENST00000263800.6	-	3	437	c.341C>G	c.(340-342)cCg>cGg	p.P114R	LTK_ENST00000355166.5_Missense_Mutation_p.P114R|LTK_ENST00000453182.2_Missense_Mutation_p.P114R|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	114					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCCAGGGCCCGGCACGCGCCA	0.662										TSP Lung(18;0.14)			6	20					0	0	0	0	C	41804923	G	C	41804923	3	2	23	1	0	0	0	0	1	0	0	0	9144	1116	39	3	2325	3	LTK	15	41804923	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08		41804923	60726469	96	4722											
ALPK3	57538	broad.mit.edu	37	chr15	85399943	85399943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtcagacaggagtgcacaGaagggcatgatgacacaggg	14	4	15	8	0	1	4	1	2	0	2	1	5	1	5	0	3	1	2	0	3	1	0			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr15:85399943G>A	ENST00000258888.5	+	6	2747	c.2580G>A	c.(2578-2580)caG>caA	p.Q860Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	860					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGTGCACAGAAGGGCATGA	0.542													5	46					0	0	0	0	A	85399943	G	A	85399943	2	1	23	1	0	0	0	0	0	0	0	1	546	933	33	2		2	ALPK3	15	85399943	Silent	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	43595020	85399943	17131449	97	4723											
NUBP2	10101	broad.mit.edu	37	chr16	1838664	1838664	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccgccttcgctgcactCacctccatagcccagaagat	9	7	7	18	2	1	2	1	0	0	2	3	2	2	2	6	0	3	2	6	0	2	2	rs147565674		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr16:1838664C>A	ENST00000262302.9	+	7	885	c.765C>A	c.(763-765)ctC>ctA	p.L255L	NUBP2_ENST00000568706.1_Silent_p.L114L|NUBP2_ENST00000565987.1_Silent_p.L195L|NUBP2_ENST00000543305.1_Silent_p.L114L	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	255						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TCGCTGCACTCACCTCCATAG	0.667													7	21					2.0095e-06	2.18533e-06	1	0	A	1838664	C	A	1838664	2	1	23	1	0	0	0	0	0	0	0	1	10787	813	29	2		2	NUBP2	16	1838664	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08		1838664	88516089	98	4724											
SRRM2	23524	broad.mit.edu	37	chr16	2808538	2808538	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagaagaaaaagaagaaaGatagaggacggtaagttagt	22	5	13	1	1	0	7	0	0	0	7	0	8	0	8	0	2	0	2	0	2	9	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr16:2808538G>C	ENST00000301740.8	+	5	1132	c.583G>C	c.(583-585)Gat>Cat	p.D195H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	195	Lys-rich.|Ser-rich.			D -> K (in Ref. 6; AAH07752).		Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						aaagaagaaAGATAGAGGACG	0.473													15	161					0	0	0	0	C	2808538	G	C	2808538	3	2	23	1	0	0	0	0	1	0	0	0	15259	942	33	2	597	2	SRRM2	16	2808538	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	969874	2808538	87546215	99	4725											
PALB2	79728	broad.mit.edu	37	chr16	23646717	23646717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaaagaggagaggttgcttCcaggctaagactcttaggtt	12	10	13	6	0	1	4	0	0	1	4	2	5	2	4	1	4	1	4	1	4	3	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr16:23646717C>T	ENST00000261584.4	-	4	1302	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	384					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GAGGTTGCTTCCAGGCTAAGA	0.413			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					16	112					0	0	0	0	T	23646717	C	T	23646717	3	4	23	1	0	0	0	0	1	0	0	0	11477	864	30	2	2450	2	PALB2	16	23646717	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	20838179	23646717	66708036	100	4726											
ARMC5	79798	broad.mit.edu	37	chr16	31477197	31477197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctactgcagaacctgacgGttcaggctgagtcgcccttt	7	10	12	12	2	1	3	1	2	0	1	2	3	1	3	2	3	3	4	2	3	2	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr16:31477197G>T	ENST00000408912.3	+	7	2493	c.2176G>T	c.(2176-2178)Gtt>Ttt	p.V726F	ARMC5_ENST00000412665.2_Missense_Mutation_p.V275F|ARMC5_ENST00000268314.4_Missense_Mutation_p.V631F|ARMC5_ENST00000563544.1_Missense_Mutation_p.V631F|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000538189.1_Missense_Mutation_p.V663F			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	631							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAACCTGACGGTTCAGGCTGA	0.637													5	34					1	1	1	0	T	31477197	G	T	31477197	3	4	23	1	0	0	0	0	1	0	0	0	958	1261	44	4	2223	4	ARMC5	16	31477197	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	7830480	31477197	58877556	101	4727											
ABCC11	85320	broad.mit.edu	37	chr16	48256716	48256716	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccaactgctcttctgaataTtccaggatctttggtataat	10	15	6	10	0	3	1	0	1	3	0	4	2	4	2	2	2	2	2	2	2	5	6			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr16:48256716T>C	ENST00000394747.1	-	5	919	c.570A>G	c.(568-570)gaA>gaG	p.E190E	ABCC11_ENST00000356608.2_Silent_p.E190E|ABCC11_ENST00000394748.1_Silent_p.E190E|ABCC11_ENST00000353782.5_Silent_p.E190E|ABCC11_ENST00000537808.1_Silent_p.E190E	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	190	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTTCTGAATATTCCAGGATCT	0.443													16	45					0	0	0	0	C	48256716	T	C	48256716	2	2	23	1	0	0	0	0	0	0	0	1	51	1490	52	5		5	ABCC11	16	48256716	Silent	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08	16779519	48256716	42098037	102	4728											
NFATC3	4775	broad.mit.edu	37	chr16	68156551	68156551	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgatgagaattggctGagccccaggccagcctcagg	9	7	13	12	0	2	3	2	3	0	1	2	4	2	3	4	3	2	1	4	3	1	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr16:68156551G>T	ENST00000349223.5	+	2	989	c.765G>T	c.(763-765)ctG>ctT	p.L255L	NFATC3_ENST00000346183.3_Silent_p.L255L|NFATC3_ENST00000575270.1_Silent_p.L255L|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Silent_p.L255L	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	255	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AGAATTGGCTGAGCCCCAGGC	0.532													8	111					5.4927e-09	6.08745e-09	1	0	T	68156551	G	T	68156551	2	4	23	1	0	0	0	0	0	0	0	1	10434	1277	45	2		2	NFATC3	16	68156551	Silent	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	19899835	68156551	22198202	103	4729											
CLEC18B	497190	broad.mit.edu	37	chr16	74447558	74447558	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccacagcccagctggcttGaggtggcccacacgagctac	8	5	12	16	1	0	1	0	1	0	0	0	2	0	1	3	3	4	3	3	3	1	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr16:74447558G>C	ENST00000339953.5	-	4	594	c.473C>G	c.(472-474)tCa>tGa	p.S158*		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	158	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGCTGGCTTGAGGTGGCCCA	0.602													23	147					0	0	0	0	C	74447558	G	C	74447558	4	2	23	1	0	0	0	0	0	1	0	0	3533	1294	45	2	934	2	CLEC18B	16	74447558	Nonsense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	6291007	74447558	15907195	104	4730											
BCAR1	9564	broad.mit.edu	37	chr16	75263550	75263550	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggtggccacgatgccGcgcaggaggtcgcacagcag	7	6	17	11	4	0	0	0	0	0	0	1	2	0	1	2	5	2	3	2	5	0	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr16:75263550G>T	ENST00000546196.1	-	7	4037	c.2385C>A	c.(2383-2385)cgC>cgA	p.R795R	BCAR1_ENST00000420641.3_Silent_p.R842R|BCAR1_ENST00000418647.3_Silent_p.R870R|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393420.6_Silent_p.R842R|BCAR1_ENST00000393422.2_Silent_p.R842R|BCAR1_ENST00000542031.2_Silent_p.R822R|BCAR1_ENST00000538440.2_Silent_p.R824R|BCAR1_ENST00000162330.5_Silent_p.R824R|BCAR1_ENST00000535626.2_Silent_p.R676R			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	824	Divergent helix-loop-helix motif.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCACGATGCCGCGCAGGAGGT	0.662													11	29					6.40141e-05	6.75058e-05	1	0	T	75263550	G	T	75263550	2	4	23	1	0	0	0	0	0	0	0	1	1352	1074	38	3		3	BCAR1	16	75263550	Silent	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	815992	75263550	15091203	105	4731											
GINS2	51659	broad.mit.edu	37	chr16	85721167	85721167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggtaaaccagggttaaaaGgccccaggtccccctgccaa	11	5	11	14	1	0	0	0	0	0	0	1	0	1	0	6	4	2	2	6	4	5	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr16:85721167G>C	ENST00000253462.3	-	2	204	c.104C>G	c.(103-105)cCt>cGt	p.P35R		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	35					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						AGGGTTAAAAGGCCCCAGGTC	0.468													7	55					0	0	0	0	C	85721167	G	C	85721167	3	2	23	1	0	0	0	0	1	0	0	0	6439	1000	35	4	469	4	GINS2	16	85721167	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	10457617	85721167	4633586	106	4732											
C17orf74	201243	broad.mit.edu	37	chr17	7330242	7330242	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgctgtatgactcctGggatcagcggcgtcgtggca	6	10	15	10	3	1	1	1	1	0	0	3	3	2	3	1	4	2	3	1	4	1	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr17:7330242G>A	ENST00000333870.3	+	3	1006	c.932G>A	c.(931-933)tGg>tAg	p.W311*	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	311						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				TATGACTCCTGGGATCAGCGG	0.706													8	43					0	0	0	0	A	7330242	G	A	7330242	4	1	23	1	0	0	0	0	0	1	0	0	1895	1357	47	4	942	4	C17orf74	17	7330242	Nonsense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08		7330242	73864968	107	4733											
MYH10	4628	broad.mit.edu	37	chr17	8383508	8383508	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccttgaacttagacttGacagcaccctcgagttcctg	8	11	10	12	1	0	3	0	2	0	1	2	4	1	3	3	1	2	2	3	1	2	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr17:8383508G>T	ENST00000360416.3	-	40	5655	c.5517C>A	c.(5515-5517)gtC>gtA	p.V1839V	MYH10_ENST00000379980.4_Silent_p.V1824V|MYH10_ENST00000269243.4_Silent_p.V1808V|NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000396239.1_Silent_p.V1829V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1808					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ACTTAGACTTGACAGCACCCT	0.587													12	63					1.61879e-10	1.80558e-10	1	0	T	8383508	G	T	8383508	2	4	23	1	0	0	0	0	0	0	0	1	10100	1277	45	2		2	MYH10	17	8383508	Silent	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	1053266	8383508	72811702	108	4734											
CCDC42	146849	broad.mit.edu	37	chr17	8633486	8633486	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttccttctttttcacctCtgcccagatgtccgaccggt	4	16	7	14	2	3	1	1	0	2	1	5	2	5	1	5	1	1	1	5	1	0	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr17:8633486C>G	ENST00000293845.3	-	7	1139	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	CCDC42_ENST00000539522.2_Missense_Mutation_p.E231Q	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	305										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TTTTTCACCTCTGCCCAGATG	0.532													8	24					0	0	0	0	G	8633486	C	G	8633486	3	3	23	1	0	0	0	0	1	0	0	0	2840	922	32	2	41	2	CCDC42	17	8633486	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	249978	8633486	72561724	109	4735											
SP6	80320	broad.mit.edu	37	chr17	45924952	45924952	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgcacacgaagggacGgtcgccgctgtgccagcgca	8	5	14	14	5	0	0	0	0	0	0	1	2	0	1	3	2	3	4	3	2	1	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr17:45924952G>C	ENST00000536300.1	-	2	1175	c.844C>G	c.(844-846)Cgt>Ggt	p.R282G	SP6_ENST00000342234.2_Missense_Mutation_p.R282G	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						ACGAAGGGACGGTCGCCGCTG	0.642													7	34					0	0	0	0	C	45924952	G	C	45924952	3	2	23	1	0	0	0	0	1	0	0	0	15056	1116	39	3	290	3	SP6	17	45924952	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	37291466	45924952	35270258	110	4736											
SMARCD2	6603	broad.mit.edu	37	chr17	61910996	61910996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattggtggtagaggccagaAaattgctcatttgggccttc	9	12	13	7	0	1	2	1	0	0	2	2	3	1	2	2	4	1	2	2	4	3	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr17:61910996A>G	ENST00000448276.2	-	10	1533	c.1268T>C	c.(1267-1269)tTt>tCt	p.F423S	SMARCD2_ENST00000323347.10_Missense_Mutation_p.F375S|SMARCD2_ENST00000225742.9_Missense_Mutation_p.F348S	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	423					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						AGAGGCCAGAAAATTGCTCAT	0.582													18	87					0	0	0	0	G	61910996	A	G	61910996	3	3	23	1	0	0	0	0	1	0	0	0	14866	14	1	5	343	5	SMARCD2	17	61910996	Missense_Mutation	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08	15986044	61910996	19284214	111	4737											
TMC8	147138	broad.mit.edu	37	chr17	76133869	76133869	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctcctcaccgtggccttCgccttcctggtcaccctgcc	2	12	7	20	2	2	0	2	0	0	0	6	0	5	0	8	2	1	0	8	2	0	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr17:76133869C>T	ENST00000318430.5	+	11	1697	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	TMC8_ENST00000589691.1_Silent_p.F218F	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	441						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CCGTGGCCTTCGCCTTCCTGG	0.662													12	75					0	0	0	0	T	76133869	C	T	76133869	2	4	23	1	0	0	0	0	0	0	0	1	16085	883	31	1		1	TMC8	17	76133869	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	14222873	76133869	5061341	112	4738											
RNF213	57674	broad.mit.edu	37	chr17	78293223	78293223	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctcctccgctaactcAgagattgggaagtgggcacc	9	8	11	13	1	2	1	2	0	0	1	4	3	4	2	3	2	2	3	3	2	2	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr17:78293223A>T	ENST00000319921.4	+	17	3276	c.3135A>T	c.(3133-3135)tcA>tcT	p.S1045S	RNF213_ENST00000508628.2_Intron|RNF213_ENST00000456466.1_Intron|RNF213_ENST00000582970.1_Intron	NM_020954.3	NP_066005.2	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCGCTAACTCAGAGATTGGGA	0.587													12	79					0	0	0	0	T	78293223	A	T	78293223	2	4	23	1	0	0	0	0	0	0	0	1	13562	175	7	5		5	RNF213	17	78293223	Silent	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08	2159354	78293223	2901987	113	4739											
PPP4R1	9989	broad.mit.edu	37	chr18	9550380	9550380	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgggactatataactctaGaagtaaaatcagctgtctac	14	12	7	8	0	4	1	1	0	3	1	4	2	4	2	0	1	3	2	0	1	8	6			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr18:9550380G>C	ENST00000400556.3	-	17	2381	c.2308C>G	c.(2308-2310)Cta>Gta	p.L770V	PPP4R1_ENST00000400555.3_Missense_Mutation_p.L753V	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	770					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TATAACTCTAGAAGTAAAATC	0.333													14	150					0	0	0	0	C	9550380	G	C	9550380	3	2	23	1	0	0	0	0	1	0	0	0	12479	933	33	2	560	2	PPP4R1	18	9550380	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08		9550380	68526868	114	4740											
ATP8B1	5205	broad.mit.edu	37	chr18	55361887	55361887	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcccactattcttcattAttttagtgtcagcacctgaa	9	18	4	10	0	3	1	2	1	1	0	4	1	4	1	2	0	1	1	2	0	4	8			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr18:55361887A>G	ENST00000536015.1	-	11	1075	c.956T>C	c.(955-957)aTa>aCa	p.I319T	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.I319T	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	319					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ATTCTTCATTATTTTAGTGTC	0.328													6	20					0	0	0	0	G	55361887	A	G	55361887	3	3	23	1	0	0	0	0	1	0	0	0	1198	449	16	5	2871	5	ATP8B1	18	55361887	Missense_Mutation	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08	45811507	55361887	22715361	115	4741											
ALPK2	115701	broad.mit.edu	37	chr18	56246469	56246469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctcttgtcagctgccgtCtcccaacactggctcatccc	6	11	6	18	1	4	0	2	0	2	0	7	0	5	0	3	1	3	2	3	1	1	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr18:56246469C>G	ENST00000361673.3	-	4	1752	c.1539G>C	c.(1537-1539)gaG>gaC	p.E513D		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	513							ATP binding|protein serine/threonine kinase activity			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						CAGCTGCCGTCTCCCAACACT	0.517											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	158					0	0	0	0	G	56246469	C	G	56246469	3	3	23	1	0	0	0	0	1	0	0	0	545	912	32	2	5013	2	ALPK2	18	56246469	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	884582	56246469	21830779	116	4742											
DOK6	220164	broad.mit.edu	37	chr18	67406319	67406319	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgaaagattaatgctaGaaatggaacagaaggcccgg	18	6	11	6	1	0	4	0	1	0	3	0	5	0	5	1	3	3	1	1	3	7	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr18:67406319G>T	ENST00000382713.5	+	6	908	c.718G>T	c.(718-720)Gaa>Taa	p.E240*		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	240							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ATTAATGCTAGAAATGGAACA	0.453													41	94					8.69298e-16	9.82194e-16	1	0	T	67406319	G	T	67406319	4	4	23	1	0	0	0	0	0	1	0	0	4737	943	33	2	740	2	DOK6	18	67406319	Nonsense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	11159850	67406319	10670929	117	4743											
DOT1L	84444	broad.mit.edu	37	chr19	2216347	2216347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcaagtcctgtgtgcCgcctgacgacgccctgtccc	5	8	11	17	3	1	1	1	1	0	0	3	2	3	1	5	0	2	2	5	0	1	0			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr19:2216347C>T	ENST00000398665.3	+	20	2027	c.1991C>T	c.(1990-1992)cCg>cTg	p.P664L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	664						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		TCCTGTGTGCCGCCTGACGAC	0.682													21	67					0	0	0	0	T	2216347	C	T	2216347	3	4	23	1	0	0	0	0	1	0	0	0	4745	652	23	1	2069	1	DOT1L	19	2216347	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08		2216347	56912636	118	4744											
TICAM1	148022	broad.mit.edu	37	chr19	4817854	4817854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacaccgtcaatggggcgtGggaggctcctggtcccagag	9	6	15	11	2	1	1	1	0	0	1	3	2	3	2	3	5	1	1	3	5	2	0			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr19:4817854G>C	ENST00000248244.5	-	2	765	c.536C>G	c.(535-537)cCa>cGa	p.P179R		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	179					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	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)		AATGGGGCGTGGGAGGCTCCT	0.642													19	131					0	0	0	0	C	4817854	G	C	4817854	3	2	23	1	0	0	0	0	1	0	0	0	15986	1348	47	4	1606	4	TICAM1	19	4817854	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	2601507	4817854	54311129	119	4745											
ZNF358	140467	broad.mit.edu	37	chr19	7585034	7585034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcggcaaggccttcgggcaGagctcggcgctgctgcagca	6	6	16	13	4	0	1	0	0	0	1	2	1	0	1	1	4	5	7	1	4	1	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr19:7585034G>C	ENST00000597229.1	+	2	1076	c.906G>C	c.(904-906)caG>caC	p.Q302H	CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.Q302H	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	302					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCTTCGGGCAGAGCTCGGCGC	0.701													18	38					0	0	0	0	C	7585034	G	C	7585034	3	2	23	1	0	0	0	0	1	0	0	0	17962	933	33	2	908	2	ZNF358	19	7585034	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	2767180	7585034	51543949	120	4746											
ZNF558	148156	broad.mit.edu	37	chr19	8922717	8922717	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgattacattcattgagtTtcactccacgatgacttctt	10	16	5	10	1	3	3	2	3	1	0	4	4	4	3	1	0	1	1	1	0	1	6			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr19:8922717T>A	ENST00000601372.1	-	10	1160	c.449A>T	c.(448-450)aAa>aTa	p.K150I	ZNF558_ENST00000301475.1_Missense_Mutation_p.K150I|ZNF558_ENST00000444186.2_Missense_Mutation_p.K79I			Q96NG5	ZN558_HUMAN	zinc finger protein 558	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TTCATTGAGTTTCACTCCACG	0.338													17	39					0	0	0	0	A	8922717	T	A	8922717	3	1	23	1	0	0	0	0	1	0	0	0	18084	1841	64	5	763	5	ZNF558	19	8922717	Missense_Mutation	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08	1337683	8922717	50206266	121	4747											
ZNF699	374879	broad.mit.edu	37	chr19	9407234	9407255	+	Frame_Shift_Del	DEL	TTTACATTCATAGTTTGTCTTT	TTTACATTCATAGTTTGTCTTT	-																															ctaaaacctttcccacattcTttacattcatagtttgtctt																										TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr19:9407234_9407255delTTTACATTCATAGTTTGTCTTT	ENST00000591998.1	-	6	1053_1074	c.825_846delAAAGACAAACTATGAATGTAAA	c.(823-846)ggfs	p.GKTNYECK275fs	ZNF699_ENST00000308650.3_Frame_Shift_Del_p.GKTNYECK275fs			Q32M78	ZN699_HUMAN	zinc finger protein 699	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCCACATTCTTTACATTCATAGTTTGTCTTTCCGATGTGAA	0.41													7	113	---	---	---	---					-	9407255	TTTACATTCATAGTTTGTCTTT	-	9407234	7	5	23	1	0	1	0	1	0	0	0	0	18196	1606	56	0	1086	0	ZNF699	19	9407234	Frame_Shift_Del	DEL	TTTACATTCATAGTTTGTCTTT	TCGA-BA-A4IG-01A-11D-A25Y-08	484517	9407234	49721749	122	4748											
ZNF44	51710	broad.mit.edu	37	chr19	12384064	12384064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatatcttacatttatgagGtccatctccactgtgcatta	11	15	5	10	0	2	1	0	1	2	0	4	1	3	1	2	1	2	1	2	1	4	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr19:12384064G>C	ENST00000356109.5	-	5	1268	c.1150C>G	c.(1150-1152)Cct>Gct	p.P384A	ZNF44_ENST00000355684.5_Missense_Mutation_p.P336A	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CATTTATGAGGTCCATCTCCA	0.408													40	146					0	0	0	0	C	12384064	G	C	12384064	3	2	23	1	0	0	0	0	1	0	0	0	18007	1261	44	4	845	4	ZNF44	19	12384064	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	2976830	12384064	46744919	123	4749											
CYP4F8	11283	broad.mit.edu	37	chr19	15728889	15728889	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggctttgtgaggtggttgGgccccatcactcccatcatc	6	11	12	12	0	2	1	2	1	0	0	4	1	3	1	3	4	0	2	3	4	0	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr19:15728889G>A	ENST00000441682.2	+	0	341							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GAGGTGGTTGGGCCCCATCAC	0.597													25	64					0	0	0	0	A	15728889	G	A	15728889	1	1	23	0	1	0	0	0	0	0	0	0	4223	1232	43	4		4	CYP4F8	19	15728889	RNA	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	3344825	15728889	43400094	124	4750											
NCAN	1463	broad.mit.edu	37	chr19	19338281	19338281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcagctcccagccctgccCcctgggaggcattccctgtg	4	9	10	18	0	1	0	1	0	1	0	4	1	3	1	5	2	3	2	5	2	0	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr19:19338281C>T	ENST00000252575.5	+	8	1895	c.1852C>T	c.(1852-1854)Ccc>Tcc	p.P618S	NCAN_ENST00000538881.1_Missense_Mutation_p.P69S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	618					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CAGCCCTGCCCCCTGGGAGGC	0.647													5	69					0	0	0	0	T	19338281	C	T	19338281	3	4	23	1	0	0	0	0	1	0	0	0	10274	623	22	4	1878	4	NCAN	19	19338281	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	3609392	19338281	39790702	125	4751											
PBX4	80714	broad.mit.edu	37	chr19	19675809	19675809	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccgtggtatccacagcCgttttacccgtgtaaatggt	8	13	9	11	3	0	0	0	0	0	0	2	0	2	0	4	2	2	3	4	2	4	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr19:19675809C>T	ENST00000251203.8	-	6	1144	c.858G>A	c.(856-858)acG>acA	p.T286T		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	286							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TATCCACAGCCGTTTTACCCG	0.527													22	263					0	0	0	0	T	19675809	C	T	19675809	2	4	23	1	0	0	0	0	0	0	0	1	11566	639	23	1		1	PBX4	19	19675809	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	337528	19675809	39453174	126	4752											
ZNF233	353355	broad.mit.edu	37	chr19	44778518	44778518	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctacaaatgtgatgtgTgtgggaaaggcttcagttgg	10	12	13	6	0	1	1	1	1	0	0	2	2	2	2	1	3	1	2	1	3	3	3			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr19:44778518T>C	ENST00000391958.2	+	5	1832	c.1705T>C	c.(1705-1707)Tgt>Cgt	p.C569R	ZNF233_ENST00000334152.1_Missense_Mutation_p.C551R|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ATGTGATGTGTGTGGGAAAGG	0.448													6	100					0	0	0	0	C	44778518	T	C	44778518	3	2	23	1	0	0	0	0	1	0	0	0	17881	1696	59	5	1719	5	ZNF233	19	44778518	Missense_Mutation	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08	25102709	44778518	14350465	127	4753											
RASIP1	54922	broad.mit.edu	37	chr19	49225236	49225236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtcaaggtggggtggtcgGttcttaggctgctccatgaa	6	11	17	7	1	2	1	1	1	1	0	4	1	3	1	1	7	1	3	1	7	3	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr19:49225236G>A	ENST00000222145.4	-	11	2771	c.2567C>T	c.(2566-2568)aCc>aTc	p.T856I		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	856	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGGGTGGTCGGTTCTTAGGCT	0.622													19	48					0	0	0	0	A	49225236	G	A	49225236	3	1	23	1	0	0	0	0	1	0	0	0	13160	1261	44	4	332	4	RASIP1	19	49225236	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	4446718	49225236	9903747	128	4754											
ZNF600	162966	broad.mit.edu	37	chr19	53270816	53270816	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctgtgctaccagtcaactTttttatttttgtcatgggtg	6	19	9	7	0	3	0	2	0	1	0	3	0	3	0	1	1	3	1	1	1	3	6			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr19:53270816T>A	ENST00000338230.3	-	3	460	c.193A>T	c.(193-195)Aag>Tag	p.K65*		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CCAGTCAACTTTTTTATTTTT	0.378													106	233					0	0	0	0	A	53270816	T	A	53270816	4	1	23	1	0	0	0	0	0	1	0	0	18125	1850	64	5	1979	5	ZNF600	19	53270816	Nonsense_Mutation	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08	4045580	53270816	5858167	129	4755											
ZNF551	90233	broad.mit.edu	37	chr19	58198984	58198984	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtggagaaagaccttaTgaatgcagagaatgtgggaa	16	7	13	5	0	0	4	0	1	0	3	0	7	0	5	1	2	1	1	1	2	5	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr19:58198984T>A	ENST00000282296.5	+	3	1526	c.1341T>A	c.(1339-1341)taT>taA	p.Y447*	ZNF551_ENST00000356715.4_Nonsense_Mutation_p.Y431*|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGACCTTATGAATGCAGAG	0.433													34	89					0	0	0	0	A	58198984	T	A	58198984	4	1	23	1	0	0	0	0	0	1	0	0	18078	1471	51	5	1303	5	ZNF551	19	58198984	Nonsense_Mutation	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08	4928168	58198984	929999	130	4756											
PLCB1	23236	broad.mit.edu	37	chr20	8639305	8639305	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaaacaagagcaagtccaAgtattgattgagaagtatga	18	9	9	5	0	0	4	0	3	0	2	1	5	1	4	1	0	2	3	1	0	8	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr20:8639305A>C	ENST00000378641.3	+	9	1291	c.816A>C	c.(814-816)caA>caC	p.Q272H	PLCB1_ENST00000338037.6_Missense_Mutation_p.Q272H|PLCB1_ENST00000378637.2_Missense_Mutation_p.Q272H	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	272					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCAAGTCCAAGTATTGATTG	0.413													36	87					0	0	0	0	C	8639305	A	C	8639305	3	2	23	1	0	0	0	0	1	0	0	0	12099	69	3	5	850	5	PLCB1	20	8639305	Missense_Mutation	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08		8639305	54386215	131	4757											
EIF6	3692	broad.mit.edu	37	chr20	33872144	33872144	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcttgactcctgcgcaCgcctccccgccaccgtaagc	6	7	9	19	4	1	1	0	1	1	0	3	2	3	1	6	0	3	3	6	0	1	2			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr20:33872144C>G	ENST00000374443.3	-	2	196	c.147G>C	c.(145-147)gcG>gcC	p.A49A	EIF6_ENST00000374450.3_Intron|EIF6_ENST00000374436.3_Intron|EIF6_ENST00000462894.1_Intron	NM_181466.2	NP_852131.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	52					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTCCTGCGCACGCCTCCCCGC	0.662													20	104					0	0	0	0	G	33872144	C	G	33872144	2	3	23	1	0	0	0	0	0	0	0	1	5083	523	19	3		3	EIF6	20	33872144	Silent	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	25232839	33872144	29153376	132	4758											
KCNK15	60598	broad.mit.edu	37	chr20	43379120	43379120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcgtggcactgcagagcggcGaggcgctgcagaggaagctc	8	5	17	11	4	0	2	0	0	0	2	2	4	0	3	0	4	4	5	0	4	1	0			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr20:43379120G>C	ENST00000372861.3	+	2	765	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	212						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GCAGAGCGGCGAGGCGCTGCA	0.622													9	57					0	0	0	0	C	43379120	G	C	43379120	3	2	23	1	0	0	0	0	1	0	0	0	8115	1059	37	3	640	3	KCNK15	20	43379120	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	9506976	43379120	19646400	133	4759											
RIMS4	140730	broad.mit.edu	37	chr20	43386398	43386398	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgttccgctcctgcagacCgatctccacatcccctggaa	8	8	7	18	3	1	1	0	0	1	1	5	3	4	2	7	1	1	3	7	1	1	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr20:43386398C>G	ENST00000372851.3	-	4	430	c.364G>C	c.(364-366)Ggt>Cgt	p.G122R	RIMS4_ENST00000541604.2_Missense_Mutation_p.G123R	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	122	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TCCTGCAGACCGATCTCCACA	0.562													5	75					0	0	0	0	G	43386398	C	G	43386398	3	3	23	1	0	0	0	0	1	0	0	0	13455	652	23	3	457	3	RIMS4	20	43386398	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	7278	43386398	19639122	134	4760											
ZNF335	63925	broad.mit.edu	37	chr20	44581078	44581078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagggccgtctctgggcagtCccccacactgcagcaggggc	6	5	14	16	1	1	0	0	0	1	0	3	0	2	0	3	4	2	3	3	4	0	0			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr20:44581078C>T	ENST00000322927.2	-	20	2997	c.2897G>A	c.(2896-2898)gGa>gAa	p.G966E	ZNF335_ENST00000426788.1_Missense_Mutation_p.G811E	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	966					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TCTGGGCAGTCCCCCACACTG	0.632													18	58					0	0	0	0	T	44581078	C	T	44581078	3	4	23	1	0	0	0	0	1	0	0	0	17947	855	30	2	1167	2	ZNF335	20	44581078	Missense_Mutation	SNP	C	TCGA-BA-A4IG-01A-11D-A25Y-08	1194680	44581078	18444442	135	4761											
ZNF334	55713	broad.mit.edu	37	chr20	45130958	45130958	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcccctgtgtgtgacctGaaatgttcagccagggctga	7	12	11	11	0	2	3	1	3	1	0	3	3	2	3	4	1	1	2	4	1	1	2	rs35251052		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr20:45130958G>C	ENST00000457685.2	-	6	2229	c.906C>G	c.(904-906)ttC>ttG	p.F302L	ZNF334_ENST00000347606.4_Missense_Mutation_p.F340L|ZNF334_ENST00000593880.1_Missense_Mutation_p.F363L			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTGTGACCTGAAATGTTCAG	0.438													16	239					0	0	0	0	C	45130958	G	C	45130958	3	2	23	1	0	0	0	0	1	0	0	0	17946	1281	45	2	1026	2	ZNF334	20	45130958	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08	549880	45130958	17894562	136	4762											
APP	351	broad.mit.edu	37	chr21	27269970	27269970	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatctcctccgtcttgataTttgtcaacccagaacctgta	10	13	6	12	1	3	3	1	1	2	2	5	3	4	3	4	0	2	1	4	0	4	4			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr21:27269970T>C	ENST00000358918.3	-	15	2124	c.1925A>G	c.(1924-1926)aAt>aGt	p.N642S	APP_ENST00000354192.3_Missense_Mutation_p.N529S|APP_ENST00000348990.5_Missense_Mutation_p.N585S|APP_ENST00000448388.2_Missense_Mutation_p.N550S|APP_ENST00000346798.3_Missense_Mutation_p.N660S|APP_ENST00000440126.3_Missense_Mutation_p.N636S|APP_ENST00000439274.2_Missense_Mutation_p.N604S|APP_ENST00000359726.3_Missense_Mutation_p.N604S|APP_ENST00000357903.3_Missense_Mutation_p.N641S	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	660					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CGTCTTGATATTTGTCAACCC	0.348													40	117					0	0	0	0	C	27269970	T	C	27269970	3	2	23	1	0	0	0	0	1	0	0	0	817	1493	52	5	345	5	APP	21	27269970	Missense_Mutation	SNP	T	TCGA-BA-A4IG-01A-11D-A25Y-08		27269970	20859925	137	4763											
HIRA	7290	broad.mit.edu	37	chr22	19363199	19363199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagggcaggagcacctGgtgtggctttggaccgctct	5	10	16	10	1	2	0	1	0	1	0	2	2	2	2	2	6	1	4	2	6	0	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr22:19363199G>A	ENST00000263208.5	-	15	1986	c.1730C>T	c.(1729-1731)cCa>cTa	p.P577L	HIRA_ENST00000541063.1_Missense_Mutation_p.P533L|HIRA_ENST00000546308.1_Missense_Mutation_p.P533L|HIRA_ENST00000340170.4_Missense_Mutation_p.P577L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	577	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGGAGCACCTGGTGTGGCTTT	0.577													9	69					0	0	0	0	A	19363199	G	A	19363199	3	1	23	1	0	0	0	0	1	0	0	0	7170	1348	47	4	1367	4	HIRA	22	19363199	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08		19363199	31941367	138	4764											
APOBEC3D	140564	broad.mit.edu	37	chr22	39427873	39427873	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagcaacgtgaatctcAccatcttcaccgcccgcctc	9	7	7	18	3	3	1	2	1	2	0	5	1	3	1	4	1	2	2	4	1	2	1			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chr22:39427873A>G	ENST00000216099.7	+	6	1344	c.937A>G	c.(937-939)Acc>Gcc	p.T313A	APOBEC3D_ENST00000427494.2_Missense_Mutation_p.T129A|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.T313A	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	313					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CGTGAATCTCACCATCTTCAC	0.587													24	104					0	0	0	0	G	39427873	A	G	39427873	3	3	23	1	0	0	0	0	1	0	0	0	794	159	6	5	959	5	APOBEC3D	22	39427873	Missense_Mutation	SNP	A	TCGA-BA-A4IG-01A-11D-A25Y-08	20064674	39427873	11876693	139	4765											
WDR44	54521	broad.mit.edu	37	chrX	117538393	117538393	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctataaataaagttaaaaGtgttagagatgaaggtgagt	17	12	11	1	0	0	3	0	2	0	1	0	4	0	3	0	1	1	3	0	1	9	5			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200D5AD1-BD1F-4068-A4E4-4B6A3AAAF92D	DF122B02-6D09-4441-AF8A-CAE70FD20FFF	g.chrX:117538393G>C	ENST00000254029.3	+	9	1762	c.1367G>C	c.(1366-1368)aGt>aCt	p.S456T	WDR44_ENST00000371822.5_Missense_Mutation_p.S431T|WDR44_ENST00000371825.3_Missense_Mutation_p.S456T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	456						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAAGTTAAAAGTGTTAGAGAT	0.318													9	23					0	0	0	0	C	117538393	G	C	117538393	3	2	23	1	0	0	0	0	1	0	0	0	17392	1029	36	4	1401	4	WDR44	23	117538393	Missense_Mutation	SNP	G	TCGA-BA-A4IG-01A-11D-A25Y-08		117538393	37732167	140	4766											
LDLRAD2	401944	broad.mit.edu	37	chr1	22141024	22141024	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgcaggcggcagccccCggcgaccggatccgcttcca	5	5	15	16	5	0	0	0	0	0	0	2	2	2	1	5	5	2	3	5	5	0	1			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr1:22141024C>T	ENST00000344642.2	+	2	406	c.219C>T	c.(217-219)ccC>ccT	p.P73P	LDLRAD2_ENST00000543870.1_Silent_p.P73P	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	73						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		CGGCAGCCCCCGGCGACCGGA	0.731													19	26					0	0	0	0	T	22141024	C	T	22141024	2	4	24	1	0	0	0	0	0	0	0	1	8759	639	23	1		1	LDLRAD2	1	22141024	Silent	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08		22141024	227109597	1	4767											
YARS	8565	broad.mit.edu	37	chr1	33272139	33272139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctccacctgctttaccaCctcagctccagccttcttgg	5	12	7	17	0	2	0	1	0	1	0	4	0	4	0	6	1	5	3	6	1	1	4			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr1:33272139C>T	ENST00000373477.4	-	4	1362	c.454G>A	c.(454-456)Gtg>Atg	p.V152M		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	152					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TGCTTTACCACCTCAGCTCCA	0.547													47	136					0	0	0	0	T	33272139	C	T	33272139	3	4	24	1	0	0	0	0	1	0	0	0	17563	507	18	4	1172	4	YARS	1	33272139	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08	11131115	33272139	215978482	2	4768											
ZMYM6	9204	broad.mit.edu	37	chr1	35453087	35453087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctggtggaaaacagtcaCtgaacacttgagaaagtcct	13	10	10	8	0	2	2	1	2	1	1	3	4	3	3	1	2	2	1	1	2	4	2			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr1:35453087C>T	ENST00000357182.4	-	16	3823	c.3596G>A	c.(3595-3597)aGt>aAt	p.S1199N	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1199					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAAACAGTCACTGAACACTTG	0.368													59	77					0	0	0	0	T	35453087	C	T	35453087	3	4	24	1	0	0	0	0	1	0	0	0	17799	565	20	4	385	4	ZMYM6	1	35453087	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08	2180948	35453087	213797534	3	4769											
TCHH	7062	broad.mit.edu	37	chr1	152081316	152081316	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgcggaattttctgtgAcgctcctggcgcagctgctg	4	13	12	12	4	2	1	0	1	2	0	4	2	3	2	1	2	2	4	1	2	1	3	rs143332338	by1000genomes	TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr1:152081316A>G	ENST00000368804.1	-	2	4376	c.4377T>C	c.(4375-4377)cgT>cgC	p.R1459R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1459	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTTTCTGTGACGCTCCTGGC	0.547													10	189					0	0	0	0	G	152081316	A	G	152081316	2	3	24	1	0	0	0	0	0	0	0	1	15794	262	10	5		5	TCHH	1	152081316	Silent	SNP	A	TCGA-BA-A4IH-01A-11D-A25Y-08	116628229	152081316	97169305	4	4770											
SELP	6403	broad.mit.edu	37	chr1	169578760	169578760	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accttgacagactggggctgGtgctgtccactgtcccaagt	7	10	12	12	0	0	2	0	1	0	1	2	2	2	2	3	3	1	2	3	3	1	1			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr1:169578760G>C	ENST00000263686.6	-	8	1352	c.1315C>G	c.(1315-1317)Cca>Gca	p.P439A	SELP_ENST00000367786.2_Missense_Mutation_p.P377A|SELP_ENST00000367791.2_Intron|SELP_ENST00000367792.2_Missense_Mutation_p.P377A|SELP_ENST00000458599.2_Missense_Mutation_p.P377A|SELP_ENST00000367794.2_Missense_Mutation_p.P377A|SELP_ENST00000367793.2_Missense_Mutation_p.P377A|SELP_ENST00000367788.2_Missense_Mutation_p.P377A	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	439	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ACTGGGGCTGGTGCTGTCCAC	0.493													8	68					0	0	0	0	C	169578760	G	C	169578760	3	2	24	1	0	0	0	0	1	0	0	0	14106	1261	44	4	1213	4	SELP	1	169578760	Missense_Mutation	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08	17497444	169578760	79671861	5	4771											
GPR37L1	9283	broad.mit.edu	37	chr1	202092407	202092407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaggaactgaggggcaatCtgacaggagcaccagggcag	12	3	17	9	0	1	2	0	2	1	0	1	4	1	4	1	6	2	4	1	6	2	0	rs77385011		TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr1:202092407C>T	ENST00000367282.4	+	1	422	c.316C>T	c.(316-318)Ctg>Ttg	p.L106L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	106						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GAGGGGCAATCTGACAGGAGC	0.632													26	30					0	0	0	0	T	202092407	C	T	202092407	2	4	24	1	0	0	0	0	0	0	0	1	6741	912	32	2		2	GPR37L1	1	202092407	Silent	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08	32513647	202092407	47158214	6	4772											
OR2M3	127062	broad.mit.edu	37	chr1	248366772	248366772	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctctaagatacaccaatCtcatgagccctaaaatttgt	14	11	4	12	0	2	2	1	1	2	1	3	2	2	2	3	0	2	0	3	0	5	4			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr1:248366772C>A	ENST00000456743.1	+	1	441	c.403C>A	c.(403-405)Ctc>Atc	p.L135I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATACACCAATCTCATGAGCCC	0.433													132	199					3.87428e-42	4.5787e-42	1	0	A	248366772	C	A	248366772	3	1	24	1	0	0	0	0	1	0	0	0	11082	913	32	2	405	2	OR2M3	1	248366772	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08	46274365	248366772	883849	7	4773											
APOB	338	broad.mit.edu	37	chr2	21236404	21236404	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtatatttgacccggccatCgctgaaatgaacaacaaaga	15	8	9	9	2	0	4	0	3	0	1	1	4	0	4	2	2	2	2	2	2	6	3			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr2:21236404C>T	ENST00000233242.1	-	25	3971	c.3842_splice	c.e25-1	p.D1282_splice		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1282					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACCCGGCCATCGCTGAAATGA	0.413													38	61					0	0	0	0	T	21236404	C	T	21236404	5	4	24	1	0	0	0	0	0	0	1	0	787	898	31	1	9867	1	APOB	2	21236404	Splice_Site	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08		21236404	221962969	8	4774											
AFTPH	54812	broad.mit.edu	37	chr2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-																															cattagacaatggagcagagGatgatgatgatgatgaattt																										TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)del	p.D26del	AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409													7	252	---	---	---	---					-	64778674	GAT	-	64778672	7	5	24	1	0	1	0	1	0	0	0	0	364	1174	41	0	66	0	AFTPH	2	64778672	In_Frame_Del	DEL	GAT	TCGA-BA-A4IH-01A-11D-A25Y-08	43542268	64778672	178420701	9	4775											
AAK1	22848	broad.mit.edu	37	chr2	69736466	69736466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgggttacgtcactgagaaTacgcctgtgcccagcacgtt	8	10	12	11	3	1	1	1	1	0	1	1	2	1	1	2	1	4	3	2	1	3	3			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr2:69736466T>C	ENST00000409085.4	-	14	2279	c.1903A>G	c.(1903-1905)Att>Gtt	p.I635V	AAK1_ENST00000409068.1_Missense_Mutation_p.I635V|AAK1_ENST00000406297.3_Missense_Mutation_p.I635V	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	635						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TCACTGAGAATACGCCTGTGC	0.572													46	54					0	0	0	0	C	69736466	T	C	69736466	3	2	24	1	0	0	0	0	1	0	0	0	16	1406	49	5	1018	5	AAK1	2	69736466	Missense_Mutation	SNP	T	TCGA-BA-A4IH-01A-11D-A25Y-08	4957794	69736466	173462907	10	4776											
RANBP2	5903	broad.mit.edu	37	chr2	109357023	109357023	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcttagaaatgaaaggAcatttctacatgcatgctgg	13	13	8	7	0	2	2	0	1	2	1	2	3	2	3	0	2	3	2	0	2	4	4			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr2:109357023A>T	ENST00000283195.6	+	7	987	c.861A>T	c.(859-861)ggA>ggT	p.G287G		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	287					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAATGAAAGGACATTTCTACA	0.393													158	228					0	0	0	0	T	109357023	A	T	109357023	2	4	24	1	0	0	0	0	0	0	0	1	13110	262	10	5		5	RANBP2	2	109357023	Silent	SNP	A	TCGA-BA-A4IH-01A-11D-A25Y-08	39620557	109357023	133842350	11	4777											
PTH2R	5746	broad.mit.edu	37	chr2	209353868	209353868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgagctcttcttcaactCctttcaggtaaagggtgctg	7	14	10	10	0	4	1	2	1	2	0	5	1	5	1	1	2	3	3	1	2	3	4			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr2:209353868C>A	ENST00000272847.2	+	11	1421	c.1208C>A	c.(1207-1209)tCc>tAc	p.S403Y	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	403						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTCTTCAACTCCTTTCAGGTA	0.473													36	36					1.60099e-16	1.7553e-16	1	0	A	209353868	C	A	209353868	3	1	24	1	0	0	0	0	1	0	0	0	12840	855	30	2	1250	2	PTH2R	2	209353868	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08	99996845	209353868	33845505	12	4778											
CELSR3	1951	broad.mit.edu	37	chr3	48677542	48677542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaggtcccgggtgcggcggGgcggaggcagcgtgctcaac	6	4	19	12	5	1	0	1	0	0	0	2	1	2	1	1	7	4	2	1	7	2	0			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr3:48677542G>A	ENST00000544264.1	-	35	9771	c.9491C>T	c.(9490-9492)cCc>cTc	p.P3164L	CELSR3_ENST00000164024.4_Missense_Mutation_p.P3159L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3159					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTGCGGCGGGGCGGAGGCAG	0.706													19	20					0	0	0	0	A	48677542	G	A	48677542	3	1	24	1	0	0	0	0	1	0	0	0	3252	1232	43	4	470	4	CELSR3	3	48677542	Missense_Mutation	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08		48677542	149344888	13	4779											
DAG1	1605	broad.mit.edu	37	chr3	49569031	49569031	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccagtcagggatcctgttCctgggaaacccacggtcacc	8	8	10	15	1	2	0	2	0	0	0	5	2	5	2	5	3	1	1	5	3	1	1			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr3:49569031C>G	ENST00000545947.1	+	6	1809	c.1087C>G	c.(1087-1089)Cct>Gct	p.P363A	DAG1_ENST00000539901.1_Missense_Mutation_p.P363A|DAG1_ENST00000515359.2_Missense_Mutation_p.P363A|DAG1_ENST00000538711.1_Missense_Mutation_p.P363A|DAG1_ENST00000308775.2_Missense_Mutation_p.P363A|DAG1_ENST00000541308.1_Missense_Mutation_p.P363A	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	363	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGATCCTGTTCCTGGGAAACC	0.607													42	112					0	0	0	0	G	49569031	C	G	49569031	3	3	24	1	0	0	0	0	1	0	0	0	4258	855	30	2	1093	2	DAG1	3	49569031	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08	891489	49569031	148453399	14	4780											
FGFR3	2261	broad.mit.edu	37	chr4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atctgcccccacagagcgctCcccgcaccggcccatcctgc	6	5	8	22	3	1	1	0	0	1	1	3	1	3	1	7	1	3	2	7	1	0	0	rs121913483		TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				12	13					0	0	0	0	G	1803568	C	G	1803568	3	3	24	1	0	0	0	0	1	0	0	0	5912	855	30	2	768	2	FGFR3	4	1803568	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08		1803568	189350708	15	4781											
GSX2	170825	broad.mit.edu	37	chr4	54967865	54967865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtacctgtctcgactcCggaggattgaaatcgccact	10	10	9	12	3	1	1	0	1	1	0	4	4	2	3	3	2	1	1	3	2	2	2			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr4:54967865C>T	ENST00000326902.2	+	2	1005	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	231						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GTCTCGACTCCGGAGGATTGA	0.537													57	111					0	0	0	0	T	54967865	C	T	54967865	3	4	24	1	0	0	0	0	1	0	0	0	6900	643	23	1	697	1	GSX2	4	54967865	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08	53164297	54967865	136186411	16	4782											
WDFY3	23001	broad.mit.edu	37	chr4	85729569	85729569	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagggatctgttctgcacGactacagacaacaaaacaga	16	6	10	9	1	2	2	0	0	2	2	2	5	2	4	0	2	4	2	0	2	4	2			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr4:85729569G>A	ENST00000322366.6	-	15	2754	c.2345_splice	c.e15-1	p.R783_splice	WDFY3_ENST00000295888.4_Splice_Site_p.R783_splice|WDFY3-AS1_ENST00000510449.1_RNA			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	783						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTTCTGCACGACTACAGACA	0.458													77	136					0	0	0	0	A	85729569	G	A	85729569	5	1	24	1	0	0	0	0	0	0	1	0	17366	1072	37	1	8449	1	WDFY3	4	85729569	Splice_Site	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08	30761704	85729569	105424707	17	4783											
SYNPO2	171024	broad.mit.edu	37	chr4	119947910	119947910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacaaagacccagtgcaCagaattcttcctcgcccctg	10	7	8	16	1	1	2	0	0	1	2	3	2	2	2	5	1	1	1	5	1	2	2			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr4:119947910C>T	ENST00000307142.4	+	3	582	c.386C>T	c.(385-387)aCa>aTa	p.T129I	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.T129I|SYNPO2_ENST00000434046.2_Missense_Mutation_p.T129I	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	129						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACCCAGTGCACAGAATTCTTC	0.502													25	49					0	0	0	0	T	119947910	C	T	119947910	3	4	24	1	0	0	0	0	1	0	0	0	15548	478	17	4	396	4	SYNPO2	4	119947910	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08	34218341	119947910	71206366	18	4784											
PCDHB7	56129	broad.mit.edu	37	chr5	140553474	140553474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcctgtcttcacttaCtagcccaattgcagaaaact	10	12	6	13	0	2	1	1	0	1	1	3	1	3	1	2	0	5	3	2	0	5	4			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr5:140553474C>T	ENST00000231137.3	+	1	1232	c.1058C>T	c.(1057-1059)aCt>aTt	p.T353I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		353	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTCACTTACTAGCCCAATT	0.488													21	43					0	0	0	0	T	140553474	C	T	140553474	3	4	24	1	0	0	0	0	1	0	0	0	11618	565	20	4	1060	4	PCDHB7	5	140553474	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08		140553474	40361786	19	4785											
PCDHGB1	56104	broad.mit.edu	37	chr5	140732056	140732056	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccaaccacagcgaggggacTttgccctattcctacaatct	10	9	7	15	1	1	0	0	0	1	0	2	2	2	1	4	2	4	0	4	2	4	4			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr5:140732056T>A	ENST00000523390.1	+	1	2229	c.2229T>A	c.(2227-2229)acT>acA	p.T743T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGGGGACTTTGCCCTATT	0.552													18	94					0	0	0	0	A	140732056	T	A	140732056	2	1	24	1	0	0	0	0	0	0	0	1	11633	1596	56	5		5	PCDHGB1	5	140732056	Silent	SNP	T	TCGA-BA-A4IH-01A-11D-A25Y-08	178582	140732056	40183204	20	4786											
PPARGC1B	133522	broad.mit.edu	37	chr5	149212836	149212836	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaggatcgcagcttcaccCaagagcaccgggcccagacc	11	4	11	15	2	1	2	1	0	0	2	2	3	1	3	4	2	2	4	4	2	2	2			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr5:149212836C>G	ENST00000309241.5	+	5	1232	c.1200C>G	c.(1198-1200)ccC>ccG	p.P400P	PPARGC1B_ENST00000394320.3_Silent_p.P400P|PPARGC1B_ENST00000403750.1_Silent_p.P336P|PPARGC1B_ENST00000360453.4_Silent_p.P361P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	400					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGCTTCACCCAAGAGCACCG	0.677													4	70					0	0	0	0	G	149212836	C	G	149212836	2	3	24	1	0	0	0	0	0	0	0	1	12372	581	21	4		4	PPARGC1B	5	149212836	Silent	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08	8480780	149212836	31702424	21	4787											
CPNE5	57699	broad.mit.edu	37	chr6	36766264	36766264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaggactcttagagtcaaCgtcgtatctgcagggaacac	12	9	10	10	2	4	1	2	0	2	1	5	3	4	3	0	2	3	2	0	2	4	2			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr6:36766264C>A	ENST00000244751.2	-	5	919	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	99	C2 1.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TTAGAGTCAACGTCGTATCTG	0.527													11	27					0.000673444	0.000696402	1	0	A	36766264	C	A	36766264	3	1	24	1	0	0	0	0	1	0	0	0	3845	536	19	3	1554	3	CPNE5	6	36766264	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08		36766264	134348803	22	4788											
FGD2	221472	broad.mit.edu	37	chr6	36979565	36979565	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggtcatcttctccaacatCtcctccatctatcagttcca	9	13	4	15	0	6	0	2	0	4	0	10	0	8	0	4	1	1	1	4	1	2	3			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr6:36979565C>G	ENST00000274963.8	+	4	633	c.462C>G	c.(460-462)atC>atG	p.I154M		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	154	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCTCCAACATCTCCTCCATCT	0.592													29	60					0	0	0	0	G	36979565	C	G	36979565	3	3	24	1	0	0	0	0	1	0	0	0	5878	903	32	2	476	2	FGD2	6	36979565	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08	213301	36979565	134135502	23	4789											
FAM184A	79632	broad.mit.edu	37	chr6	119345176	119345176	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagcttttggcatttgTcaagaagacttccagcttca	10	14	8	9	0	3	3	2	1	1	2	4	3	4	3	1	1	2	3	1	1	3	5			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr6:119345176T>C	ENST00000338891.7	-	2	1405	c.962A>G	c.(961-963)gAc>gGc	p.D321G	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.D201G|FAM184A_ENST00000521531.1_Missense_Mutation_p.D321G|FAM184A_ENST00000368475.4_Missense_Mutation_p.D201G|FAM184A_ENST00000352896.5_Missense_Mutation_p.D201G	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	321										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTGGCATTTGTCAAGAAGACT	0.338													75	121					0	0	0	0	C	119345176	T	C	119345176	3	2	24	1	0	0	0	0	1	0	0	0	5553	1667	58	5	2528	5	FAM184A	6	119345176	Missense_Mutation	SNP	T	TCGA-BA-A4IH-01A-11D-A25Y-08	82365611	119345176	51769891	24	4790											
C6orf58	352999	broad.mit.edu	37	chr6	127898604	127898604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atattttatgggggttgcctCtgcagtatggctggcaatat	8	15	12	6	0	1	0	0	0	1	0	1	0	1	0	1	4	2	5	1	4	5	6			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr6:127898604C>G	ENST00000329722.7	+	1	286	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	92						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GGGGTTGCCTCTGCAGTATGG	0.378													70	90					0	0	0	0	G	127898604	C	G	127898604	3	3	24	1	0	0	0	0	1	0	0	0	2389	912	32	2	276	2	C6orf58	6	127898604	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08	8553428	127898604	43216463	25	4791											
PTCD1	26024	broad.mit.edu	37	chr7	99022765	99022765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccctatcaaggccagccGgtcagctggggtggtcaccg	6	6	14	15	2	3	0	3	0	0	0	3	0	3	0	5	5	2	1	5	5	2	1			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr7:99022765G>A	ENST00000292478.4	-	6	1640	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.R513W|PTCD1_ENST00000555673.1_Missense_Mutation_p.R513W	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AAGGCCAGCCGGTCAGCTGGG	0.652													7	63					0	0	0	0	A	99022765	G	A	99022765	3	1	24	1	0	0	0	0	1	0	0	0	12806	1115	39	1	724	1	PTCD1	7	99022765	Missense_Mutation	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08		99022765	60115898	26	4792											
XPO7	23039	broad.mit.edu	37	chr8	21843168	21843168	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttttgccagcactgatGagcaagacgccatggatggt	9	12	11	9	1	1	3	0	2	1	1	1	4	1	4	2	2	3	2	2	2	1	3			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr8:21843168G>T	ENST00000434536.1	+	13	1672	c.1570G>T	c.(1570-1572)Gag>Tag	p.E524*	XPO7_ENST00000252512.9_Nonsense_Mutation_p.E515*|XPO7_ENST00000433566.4_Nonsense_Mutation_p.E516*			Q9UIA9	XPO7_HUMAN	exportin 7	515					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CAGCACTGATGAGCAAGACGC	0.562													80	107					6.86016e-32	8.00352e-32	1	0	T	21843168	G	T	21843168	4	4	24	1	0	0	0	0	0	1	0	0	17545	1291	45	2	1645	2	XPO7	8	21843168	Nonsense_Mutation	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08		21843168	124520854	27	4793											
SMC2	10592	broad.mit.edu	37	chr9	106888954	106888954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcactctggaactggaagaGctcaagagagagcatacatc	15	7	10	9	0	3	3	2	0	1	3	4	6	3	5	0	2	4	2	0	2	4	1			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr9:106888954G>T	ENST00000286398.7	+	19	2772	c.2484G>T	c.(2482-2484)gaG>gaT	p.E828D	SMC2_ENST00000374787.3_Missense_Mutation_p.E828D|SMC2_ENST00000374793.3_Missense_Mutation_p.E828D|SMC2_ENST00000303219.8_Missense_Mutation_p.E828D	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	828					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AACTGGAAGAGCTCAAGAGAG	0.353													33	38					7.16026e-08	7.57655e-08	1	0	T	106888954	G	T	106888954	3	4	24	1	0	0	0	0	1	0	0	0	14871	962	34	4	2554	4	SMC2	9	106888954	Missense_Mutation	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08		106888954	34324477	28	4794											
FKTN	2218	broad.mit.edu	37	chr9	108397458	108397458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagattcctgtaaagacGtgggactggaagcgctctcc	10	9	13	9	2	1	2	0	0	1	2	3	5	2	5	2	3	1	2	2	3	4	2			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr9:108397458G>A	ENST00000223528.2	+	10	1423	c.1299G>A	c.(1297-1299)acG>acA	p.T433T	FKTN_ENST00000602661.1_Silent_p.T433T|FKTN_ENST00000357998.5_Intron|FKTN_ENST00000448551.2_Intron|FKTN_ENST00000540160.1_3'UTR	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	433					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						CTGTAAAGACGTGGGACTGGA	0.463													73	78					0	0	0	0	A	108397458	G	A	108397458	2	1	24	1	0	0	0	0	0	0	0	1	5964	1132	40	1		1	FKTN	9	108397458	Silent	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08	1508504	108397458	32815973	29	4795											
CRB2	286204	broad.mit.edu	37	chr9	126136215	126136216	+	Frame_Shift_Ins	INS	-	-	G																															gcaggtgggatggctgggcaINSggggggtgggctgcgaatgc																										TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr9:126136215_126136216insG	ENST00000359999.3	+	10	3496_3497	c.3405_3406insG	c.(3403-3408)gcggggfs	p.AG1135fs	CRB2_ENST00000373629.2_Intron|CRB2_ENST00000373631.3_Intron			Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	909	EGF-like 14.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ATGGCTGGGCAGGGGGGTGGGC	0.698													3	3	---	---	---	---					G	126136216	-	G	126136215	7	5	24	1	0	1	1	0	0	0	0	0	3879	203	7	0		0	CRB2	9	126136215	Frame_Shift_Ins	INS	-	TCGA-BA-A4IH-01A-11D-A25Y-08	17738757	126136215	15077216	30	4796											
PSD	5662	broad.mit.edu	37	chr10	104164758	104164758	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagggcatggtggatgcTgatggcattcttgagctccg	6	10	16	9	1	1	2	0	2	1	0	2	3	2	3	2	5	2	4	2	5	0	2			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr10:104164758T>A	ENST00000020673.5	-	14	2978	c.2452A>T	c.(2452-2454)Agc>Tgc	p.S818C	PSD_ENST00000406432.1_Missense_Mutation_p.S818C	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	818	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGGTGGATGCTGATGGCATTC	0.612													19	32					0	0	0	0	A	104164758	T	A	104164758	3	1	24	1	0	0	0	0	1	0	0	0	12725	1580	55	5	638	5	PSD	10	104164758	Missense_Mutation	SNP	T	TCGA-BA-A4IH-01A-11D-A25Y-08		104164758	31369989	31	4797											
OR5D13	390142	broad.mit.edu	37	chr11	55541549	55541549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atattcaatgaggtgagcagCctaattatcattctgacatc	13	13	7	8	0	3	3	2	3	1	0	4	3	3	3	1	1	2	1	1	1	4	5			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr11:55541549C>A	ENST00000361760.1	+	1	636	c.636C>A	c.(634-636)agC>agA	p.S212R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AGGTGAGCAGCCTAATTATCA	0.428													44	77					6.5261e-18	7.3318e-18	1	0	A	55541549	C	A	55541549	3	1	24	1	0	0	0	0	1	0	0	0	11225	738	26	4	638	4	OR5D13	11	55541549	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08		55541549	79464967	32	4798											
OR8J3	81168	broad.mit.edu	37	chr11	55904442	55904442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaatagcattgtcccataGaaaaccgtgactgctatcat	15	11	6	9	1	1	2	1	1	0	1	2	2	2	2	2	0	3	2	2	0	7	5			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr11:55904442G>T	ENST00000301529.1	-	1	752	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TTGTCCCATAGAAAACCGTGA	0.408													49	73					2.64894e-19	3.01317e-19	1	0	T	55904442	G	T	55904442	3	4	24	1	0	0	0	0	1	0	0	0	11313	933	33	2	196	2	OR8J3	11	55904442	Missense_Mutation	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08	362893	55904442	79102074	33	4799											
TMPRSS13	84000	broad.mit.edu	37	chr11	117780594	117780594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagatgtgggtggtgcCgaagtgcagactcacttgcc	8	9	13	11	1	1	2	1	0	0	2	2	3	2	2	3	2	3	1	3	2	1	1			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr11:117780594C>T	ENST00000528626.1	-	7	1004	c.931G>A	c.(931-933)Ggc>Agc	p.G311S	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G346S|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.G346S|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G346S|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.G346S	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	341	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGGGTGGTGCCGAAGTGCAGA	0.627													3	35					0	0	0	0	T	117780594	C	T	117780594	3	4	24	1	0	0	0	0	1	0	0	0	16339	652	23	1	691	1	TMPRSS13	11	117780594	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08	61876152	117780594	17225922	34	4800											
B3GAT1	27087	broad.mit.edu	37	chr11	134253908	134253908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagctcggccttctgcaccGggcggctgtaggtgggcgtc	3	9	16	13	4	2	0	1	0	1	0	4	0	2	0	2	5	2	4	2	5	1	2			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr11:134253908G>A	ENST00000524765.1	-	3	4831	c.287C>T	c.(286-288)cCg>cTg	p.P96L	B3GAT1_ENST00000312527.4_Missense_Mutation_p.P96L|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000537389.1_Missense_Mutation_p.P109L|B3GAT1_ENST00000392580.1_Missense_Mutation_p.P96L			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	96					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CTTCTGCACCGGGCGGCTGTA	0.701													11	5					0	0	0	0	A	134253908	G	A	134253908	3	1	24	1	0	0	0	0	1	0	0	0	1257	1116	39	1	729	1	B3GAT1	11	134253908	Missense_Mutation	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08	16473314	134253908	752608	35	4801											
KCNA5	3741	broad.mit.edu	37	chr12	5155093	5155093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcaaggccaagagcaacGtggacttgcggaggtccctt	10	7	13	11	3	1	1	1	0	0	1	2	3	2	3	2	4	3	1	2	4	3	2			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr12:5155093G>A	ENST00000252321.3	+	1	2009	c.1780G>A	c.(1780-1782)Gtg>Atg	p.V594M		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	594						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			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						CAAGAGCAACGTGGACTTGCG	0.587													37	28					0	0	0	0	A	5155093	G	A	5155093	3	1	24	1	0	0	0	0	1	0	0	0	8059	1145	40	1	1782	1	KCNA5	12	5155093	Missense_Mutation	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08		5155093	128696802	36	4802											
GPRC5D	55507	broad.mit.edu	37	chr12	13102633	13102633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgtcgctggaactgcGggttgcctctcaggagcatg	5	9	17	10	2	1	0	1	0	1	0	3	2	1	2	1	5	4	4	1	5	1	1			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr12:13102633G>A	ENST00000228887.1	-	1	685	c.686C>T	c.(685-687)cCg>cTg	p.P229L	RP11-392P7.6_ENST00000545914.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.P229L|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5, member D	229						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		CTGGAACTGCGGGTTGCCTCT	0.562													37	97					0	0	0	0	A	13102633	G	A	13102633	3	1	24	1	0	0	0	0	1	0	0	0	6777	1116	39	1	361	1	GPRC5D	12	13102633	Missense_Mutation	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08	7947540	13102633	120749262	37	4803											
GUCY2C	2984	broad.mit.edu	37	chr12	14766109	14766109	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaagtattccagagtgcctTttttatagctggctacccgt	8	14	9	10	1	0	1	0	0	0	1	1	1	1	1	3	1	3	4	3	1	5	7			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr12:14766109T>A	ENST00000261170.3	-	27	3300	c.3164A>T	c.(3163-3165)aAa>aTa	p.K1055I	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1055					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CAGAGTGCCTTTTTTATAGCT	0.408													21	334					0	0	0	0	A	14766109	T	A	14766109	3	1	24	1	0	0	0	0	1	0	0	0	6946	1841	64	5	61	5	GUCY2C	12	14766109	Missense_Mutation	SNP	T	TCGA-BA-A4IH-01A-11D-A25Y-08	1663476	14766109	119085786	38	4804											
TMEM5	10329	broad.mit.edu	37	chr12	64195968	64195968	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaaaaagcaaagatctttTatgccacccagtggttactt	14	11	8	8	0	1	2	0	0	1	2	1	3	1	2	2	1	3	2	2	1	5	4			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr12:64195968T>C	ENST00000261234.6	+	4	684	c.526T>C	c.(526-528)Tat>Cat	p.Y176H	TMEM5_ENST00000537373.1_5'UTR|TMEM5_ENST00000537982.1_3'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	176						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AAAGATCTTTTATGCCACCCA	0.378													8	53					0	0	0	0	C	64195968	T	C	64195968	3	2	24	1	0	0	0	0	1	0	0	0	16268	1754	61	5	540	5	TMEM5	12	64195968	Missense_Mutation	SNP	T	TCGA-BA-A4IH-01A-11D-A25Y-08	49429859	64195968	69655927	39	4805											
LUM	4060	broad.mit.edu	37	chr12	91502249	91502249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacagcatcctctttcagccGattgtgctggagatggatga	10	11	11	9	1	2	2	1	1	1	1	3	5	3	3	2	2	4	2	2	2	1	2			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr12:91502249G>A	ENST00000266718.4	-	2	962	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	170					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R170R(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCTTTCAGCCGATTGTGCTGG	0.443													55	60					0	0	0	0	A	91502249	G	A	91502249	3	1	24	1	0	0	0	0	1	0	0	0	9149	1057	37	1	516	1	LUM	12	91502249	Missense_Mutation	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08	27306281	91502249	42349646	40	4806											
ABCB9	23457	broad.mit.edu	37	chr12	123435004	123435004	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgagccagctacctgccaAtggccagcaggcacacgatg	10	6	12	13	1	0	1	0	1	0	0	0	2	0	1	4	2	5	4	4	2	2	2			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr12:123435004A>T	ENST00000542678.1	-	3	3548	c.710T>A	c.(709-711)aTt>aAt	p.I237N	ABCB9_ENST00000442028.2_Missense_Mutation_p.I237N|ABCB9_ENST00000392439.3_Missense_Mutation_p.I237N|ABCB9_ENST00000442833.2_Missense_Mutation_p.I237N|ABCB9_ENST00000344275.7_Missense_Mutation_p.I237N|ABCB9_ENST00000280560.8_Missense_Mutation_p.I237N|ABCB9_ENST00000540285.1_Missense_Mutation_p.I237N|ABCB9_ENST00000346530.5_Missense_Mutation_p.I237N			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	237	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CTACCTGCCAATGGCCAGCAG	0.632													12	5					0	0	0	0	T	123435004	A	T	123435004	3	4	24	1	0	0	0	0	1	0	0	0	48	101	4	5	1630	5	ABCB9	12	123435004	Missense_Mutation	SNP	A	TCGA-BA-A4IH-01A-11D-A25Y-08	31932755	123435004	10416891	41	4807											
SLC39A2	29986	broad.mit.edu	37	chr14	21469268	21469268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaactccacagccatggaCatttaccctcaccctcaaag	12	8	5	16	1	2	0	2	0	0	0	4	2	3	1	4	1	3	0	4	1	3	2	rs2234637	byFrequency	TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr14:21469268C>T	ENST00000298681.4	+	4	617	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	154			H -> Y (in dbSNP:rs2234637).			cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		CAGCCATGGACATTTACCCTC	0.582													7	96					0	0	0	0	T	21469268	C	T	21469268	3	4	24	1	0	0	0	0	1	0	0	0	14706	478	17	4	474	4	SLC39A2	14	21469268	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08		21469268	85880272	42	4808											
CDH24	64403	broad.mit.edu	37	chr14	23524310	23524310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcatggtagggcccaaGgggaaaaatgggtggattgt	10	8	19	4	0	0	0	0	0	0	0	0	2	0	2	1	8	0	2	1	8	4	2			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr14:23524310G>A	ENST00000397359.3	-	3	713	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	CDH24_ENST00000554034.1_Missense_Mutation_p.L152F|CDH24_ENST00000487137.2_Missense_Mutation_p.L152F|CDH24_ENST00000267383.5_Missense_Mutation_p.L152F	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	152	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TAGGGCCCAAGGGGAAAAATG	0.597											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	21					0	0	0	0	A	23524310	G	A	23524310	3	1	24	1	0	0	0	0	1	0	0	0	3138	1000	35	4	2049	4	CDH24	14	23524310	Missense_Mutation	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08	2055042	23524310	83825230	43	4809											
SRP14	6727	broad.mit.edu	37	chr15	40330522	40330522	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcccatcggtagctcttaaCagacacttgttgtctgcggg	7	13	10	11	2	2	1	0	0	2	1	4	1	3	1	1	2	3	3	1	2	2	5			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr15:40330522C>A	ENST00000267884.6	-	3	242	c.171G>T	c.(169-171)ctG>ctT	p.L57L	SRP14_ENST00000559081.1_Silent_p.L57L|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_5'UTR|SRP14_ENST00000558720.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	57					negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		TAGCTCTTAACAGACACTTGT	0.448													40	62					4.32679e-17	4.80168e-17	1	0	A	40330522	C	A	40330522	2	1	24	1	0	0	0	0	0	0	0	1	15243	465	17	4		4	SRP14	15	40330522	Silent	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08		40330522	62200870	44	4810											
LRRK1	79705	broad.mit.edu	37	chr15	101598236	101598236	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagccagatgaaggacccGacttttgccaccttcatgta	10	10	10	11	1	1	3	1	2	0	1	1	5	1	4	4	1	2	1	4	1	2	4			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr15:101598236G>T	ENST00000284395.5	+	30	4960	c.4560G>T	c.(4558-4560)ccG>ccT	p.P1520P	LRRK1_ENST00000388948.3_Silent_p.P1523P|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1523	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGAAGGACCCGACTTTTGCCA	0.562													19	34					8.00594e-06	8.37403e-06	1	0	T	101598236	G	T	101598236	2	4	24	1	0	0	0	0	0	0	0	1	9096	1045	37	3		3	LRRK1	15	101598236	Silent	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08	61267714	101598236	933156	45	4811											
MYO1D	4642	broad.mit.edu	37	chr17	31082577	31082577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcaagaaacatttcatcgGtgactttgccgacattcatg	11	13	7	10	2	3	2	3	1	0	1	4	3	3	2	1	1	2	0	1	1	2	4			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr17:31082577G>C	ENST00000318217.5	-	11	1704	c.1400C>G	c.(1399-1401)aCc>aGc	p.T467S	MYO1D_ENST00000579584.1_Missense_Mutation_p.T467S|MYO1D_ENST00000394649.4_Missense_Mutation_p.T379S|MYO1D_ENST00000584232.1_5'UTR	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	467	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CATTTCATCGGTGACTTTGCC	0.413													37	40					0	0	0	0	C	31082577	G	C	31082577	3	2	24	1	0	0	0	0	1	0	0	0	10141	1261	44	4	1668	4	MYO1D	17	31082577	Missense_Mutation	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08		31082577	50112633	46	4812											
C19orf57	79173	broad.mit.edu	37	chr19	14000402	14000402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catggactctccgctcccagGtgccagagccagggaggctg	7	6	14	14	1	1	1	0	0	1	1	3	3	2	3	4	4	2	2	4	4	0	0			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr19:14000402G>A	ENST00000454313.1	-	6	1325	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Missense_Mutation_p.P423S|C19orf57_ENST00000346736.2_Missense_Mutation_p.P423S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	423					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCGCTCCCAGGTGCCAGAGCC	0.627													27	92					0	0	0	0	A	14000402	G	A	14000402	3	1	24	1	0	0	0	0	1	0	0	0	1957	1261	44	4	658	4	C19orf57	19	14000402	Missense_Mutation	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08		14000402	45128581	47	4813											
ILVBL	10994	broad.mit.edu	37	chr19	15230293	15230293	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccatcagaggcctctTggcccggctcaggatctcca	8	7	10	16	1	4	1	2	0	2	1	5	2	4	2	4	4	1	2	4	4	0	1			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr19:15230293T>C	ENST00000263383.3	-	8	989	c.850A>G	c.(850-852)Aag>Gag	p.K284E	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.K177E	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	284						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AGAGGCCTCTTGGCCCGGCTC	0.547													7	43					0	0	0	0	C	15230293	T	C	15230293	3	2	24	1	0	0	0	0	1	0	0	0	7768	1821	63	5	1084	5	ILVBL	19	15230293	Missense_Mutation	SNP	T	TCGA-BA-A4IH-01A-11D-A25Y-08	1229891	15230293	43898690	48	4814											
EPS15L1	58513	broad.mit.edu	37	chr19	16528778	16528785	+	Frame_Shift_Del	DEL	TCCGAAGG	TCCGAAGG	-																															ccgggccgggcgtgcctctcTccgaaggcgggaccatgtcc																										TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr19:16528778_16528785delTCCGAAGG	ENST00000602009.1	-	5	1514_1521	c.619_626delCCTTCGGA	c.(619-627)gfs	p.PSE207fs	EPS15L1_ENST00000597937.1_Frame_Shift_Del_p.PSE361fs|EPS15L1_ENST00000248070.6_Frame_Shift_Del_p.PSE361fs|EPS15L1_ENST00000594975.1_Frame_Shift_Del_p.PSE361fs|EPS15L1_ENST00000535753.2_Frame_Shift_Del_p.PSE361fs|EPS15L1_ENST00000455140.2_Frame_Shift_Del_p.PSE361fs			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	361	EH 2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CGTGCCTCTCTCCGAAGGCGGGACCATG	0.587											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	14	---	---	---	---					-	16528785	TCCGAAGG	-	16528778	7	5	24	1	0	1	0	1	0	0	0	0	5231	1551	54	0	1558	0	EPS15L1	19	16528778	Frame_Shift_Del	DEL	TCCGAAGG	TCGA-BA-A4IH-01A-11D-A25Y-08	1298485	16528778	42600205	49	4815											
FAM129C	199786	broad.mit.edu	37	chr19	17651299	17651299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcaccgtggaagcctcgCtcgaggcggtgcggaccctc	5	6	15	15	6	0	0	0	0	0	0	3	3	0	2	3	4	3	2	3	4	1	0			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr19:17651299C>T	ENST00000335393.4	+	10	1309	c.1171C>T	c.(1171-1173)Ctc>Ttc	p.L391F	FAM129C_ENST00000599124.1_Missense_Mutation_p.L360F|FAM129C_ENST00000332386.5_Missense_Mutation_p.L391F|FAM129C_ENST00000449408.2_Missense_Mutation_p.L117F|FAM129C_ENST00000300971.2_Missense_Mutation_p.L391F|FAM129C_ENST00000595684.1_Missense_Mutation_p.L391F|FAM129C_ENST00000601861.1_Missense_Mutation_p.L360F|FAM129C_ENST00000599164.1_Missense_Mutation_p.L360F|FAM129C_ENST00000600871.1_Missense_Mutation_p.L337F|FAM129C_ENST00000352727.3_Missense_Mutation_p.L391F	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	391										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGAAGCCTCGCTCGAGGCGGT	0.721													18	3					0	0	0	0	T	17651299	C	T	17651299	3	4	24	1	0	0	0	0	1	0	0	0	5479	797	28	4	1209	4	FAM129C	19	17651299	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08	1122521	17651299	41477684	50	4816											
USP29	57663	broad.mit.edu	37	chr19	57642321	57642321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgttaggaagctggatGcccaggaacatacagaagag	14	6	14	7	0	0	2	0	0	0	2	0	5	0	5	1	4	4	2	1	4	5	2			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr19:57642321G>T	ENST00000254181.4	+	4	2732	c.2278G>T	c.(2278-2280)Gcc>Tcc	p.A760S	USP29_ENST00000598197.1_Missense_Mutation_p.A760S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	760					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGCTGGATGCCCAGGAACA	0.488													21	35					3.51602e-12	3.80902e-12	1	0	T	57642321	G	T	57642321	3	4	24	1	0	0	0	0	1	0	0	0	17155	1319	46	4	2280	4	USP29	19	57642321	Missense_Mutation	SNP	G	TCGA-BA-A4IH-01A-11D-A25Y-08	39991022	57642321	1486662	51	4817											
BFSP1	631	broad.mit.edu	37	chr20	17475195	17475195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagagggctccacctggcCgtcataaagcacagagtctt	11	7	12	11	1	2	2	1	0	1	2	3	3	3	2	3	3	1	2	3	3	2	2			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr20:17475195C>T	ENST00000377873.3	-	8	1561	c.1522G>A	c.(1522-1524)Ggc>Agc	p.G508S	BFSP1_ENST00000377868.2_Missense_Mutation_p.G383S|BFSP1_ENST00000544874.1_Missense_Mutation_p.G369S|BFSP1_ENST00000536626.1_Missense_Mutation_p.G369S	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	508	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TCCACCTGGCCGTCATAAAGC	0.542													5	75					0	0	0	0	T	17475195	C	T	17475195	3	4	24	1	0	0	0	0	1	0	0	0	1420	652	23	1	479	1	BFSP1	20	17475195	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08		17475195	45550325	52	4818											
ACSS1	84532	broad.mit.edu	37	chr20	25011639	25011639	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagatggaggagggccAaaatgcagagcagtttgggg	13	6	17	5	0	1	2	1	0	0	2	1	5	1	4	1	5	2	3	1	5	2	1	rs60849220	by1000genomes	TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr20:25011639A>G	ENST00000537502.1	-	1	1669	c.138T>C	c.(136-138)ttT>ttC	p.F46F	ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000542618.1_Intron|ACSS1_ENST00000323482.4_Intron			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	0	Poly-Ala.				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAGGAGGGCCAAAATGCAGAG	0.517													3	18					0	0	0	0	G	25011639	A	G	25011639	2	3	24	1	0	0	0	0	0	0	0	1	188	145	5	5		5	ACSS1	20	25011639	Silent	SNP	A	TCGA-BA-A4IH-01A-11D-A25Y-08	7536444	25011639	38013881	53	4819											
SUSD2	56241	broad.mit.edu	37	chr22	24582098	24582098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgacctgagggtgcaggCgcgggcccagcccgggacga	7	2	18	14	5	0	1	0	1	0	0	0	5	0	2	4	4	2	1	4	4	0	0	rs116820424	by1000genomes	TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr22:24582098C>T	ENST00000358321.3	+	9	1715	c.1454C>T	c.(1453-1455)gCg>gTg	p.A485V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	485	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGGGTGCAGGCGCGGGCCCAG	0.647													3	27					0	0	0	0	T	24582098	C	T	24582098	3	4	24	1	0	0	0	0	1	0	0	0	15498	768	27	1	1488	1	SUSD2	22	24582098	Missense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08		24582098	26722468	54	4820											
MYH9	4627	broad.mit.edu	37	chr22	36702000	36702000	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaaactcctggaagaccAccctgttggggaagccctgg	9	6	13	13	1	0	1	0	0	0	1	1	4	1	3	5	4	2	1	5	4	3	1			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr22:36702000A>T	ENST00000216181.5	-	17	2365	c.2135T>A	c.(2134-2136)gTg>gAg	p.V712E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	712	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTGGAAGACCACCCTGTTGGG	0.672			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				36	64					0	0	0	0	T	36702000	A	T	36702000	3	4	24	1	0	0	0	0	1	0	0	0	10112	159	6	5	3847	5	MYH9	22	36702000	Missense_Mutation	SNP	A	TCGA-BA-A4IH-01A-11D-A25Y-08	12119902	36702000	14602566	55	4821											
TRMU	55687	broad.mit.edu	37	chr22	46733801	46733801	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttagacatccctttccatCaagtgtcctacgtaaaggag	11	12	7	11	1	2	1	1	0	1	1	5	2	5	2	3	1	1	1	3	1	5	4			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CDE5F95C-DB1D-420F-BC33-D32AA1B8D814	D61CF248-B477-4677-81B8-43448F607E3D	g.chr22:46733801C>T	ENST00000290846.4	+	2	548	c.208C>T	c.(208-210)Caa>Taa	p.Q70*	TRMU_ENST00000381019.3_Nonsense_Mutation_p.Q70*|TRMU_ENST00000424260.2_Nonsense_Mutation_p.Q35*	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	70						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CCCTTTCCATCAAGTGTCCTA	0.483													21	113					0	0	0	0	T	46733801	C	T	46733801	4	4	24	1	0	0	0	0	0	1	0	0	16666	827	29	2	214	2	TRMU	22	46733801	Nonsense_Mutation	SNP	C	TCGA-BA-A4IH-01A-11D-A25Y-08	10031801	46733801	4570765	56	4822											
C1orf173	127254	broad.mit.edu	37	chr1	75038309	75038309	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatctcttccccttccaCatcttccttgcaaaggaagg	9	11	5	16	0	2	0	0	0	2	0	6	1	5	1	5	2	1	1	5	2	2	4			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr1:75038309C>A	ENST00000326665.5	-	14	3303	c.3085G>T	c.(3085-3087)Gtg>Ttg	p.V1029L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1029	Glu-rich.									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						TCCCCTTCCACATCTTCCTTG	0.502													25	153					3.6726e-16	4.27514e-16	1	0	A	75038309	C	A	75038309	3	1	25	1	0	0	0	0	1	0	0	0	2033	478	17	4	1511	4	C1orf173	1	75038309	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08		75038309	174212312	1	4823											
LPPR4	9890	broad.mit.edu	37	chr1	99762293	99762293	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacccttctatctttgcaGattatggtaggagaaggaat	13	13	9	6	0	2	2	0	0	2	2	2	4	2	3	1	3	2	2	1	3	7	6			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr1:99762293G>T	ENST00000370185.3	+	3	905		c.e3-1		LPPR4_ENST00000457765.1_Splice_Site	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN									phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TATCTTTGCAGATTATGGTAG	0.383													14	192					1.52009e-12	1.71586e-12	1	0	T	99762293	G	T	99762293	5	4	25	1	0	0	0	0	0	0	1	0	8991	956	33	2	418	2	LPPR4	1	99762293	Splice_Site	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	24723984	99762293	149488328	2	4824											
SV2A	9900	broad.mit.edu	37	chr1	149877520	149877520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaaaaggcagagcagagCgatcatggccgactcactgt	13	5	12	11	2	2	2	2	0	0	2	2	4	2	2	2	2	2	2	2	2	2	0			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr1:149877520C>T	ENST00000369146.3	-	12	2447	c.1957G>A	c.(1957-1959)Gct>Act	p.A653T	SV2A_ENST00000369145.1_Missense_Mutation_p.A653T	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	653					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAGAGCAGAGCGATCATGGCC	0.547													28	125					0	0	0	0	T	149877520	C	T	149877520	3	4	25	1	0	0	0	0	1	0	0	0	15507	768	27	1	279	1	SV2A	1	149877520	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	50115227	149877520	99373101	3	4825											
CLK2	1196	broad.mit.edu	37	chr1	155233126	155233126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgcttagctggttcataCtctagcatgctttcaatcag	9	13	8	11	1	4	0	3	0	1	0	4	0	4	0	1	1	5	5	1	1	4	5			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr1:155233126C>A	ENST00000368361.4	-	13	1698	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	CLK2_ENST00000355560.4_Missense_Mutation_p.E459D|CLK2_ENST00000536801.1_Missense_Mutation_p.E461D|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.E460D			P49760	CLK2_HUMAN	CDC-like kinase 2	461	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGGTTCATACTCTAGCATGC	0.567								Other conserved DNA damage response genes					4	64					0.184627	0.185875	1	0	A	155233126	C	A	155233126	3	1	25	1	0	0	0	0	1	0	0	0	3567	564	20	4	120	4	CLK2	1	155233126	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	5355606	155233126	94017495	4	4826											
TNR	7143	broad.mit.edu	37	chr1	175372559	175372559	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgggcaccggagttcGgaacagtcatccccgctgta	7	10	12	12	3	2	0	1	0	1	0	4	2	3	2	3	3	1	5	3	3	2	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr1:175372559G>A	ENST00000367674.1	-	4	1401	c.693C>T	c.(691-693)tcC>tcT	p.S231S	TNR_ENST00000263525.2_Silent_p.S231S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	231	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCGGAGTTCGGAACAGTCAT	0.637													19	125					0	0	0	0	A	175372559	G	A	175372559	2	1	25	1	0	0	0	0	0	0	0	1	16432	1103	39	1		1	TNR	1	175372559	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	20139433	175372559	73878062	5	4827											
KCNT2	343450	broad.mit.edu	37	chr1	196250051	196250051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgggaacatctccagtaGaagaacacaacttctgataa	17	8	7	9	0	2	3	0	1	2	2	3	4	2	4	1	1	3	1	1	1	7	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr1:196250051G>T	ENST00000367433.5	-	24	2878	c.2777C>A	c.(2776-2778)tCt>tAt	p.S926Y	KCNT2_ENST00000367431.4_Missense_Mutation_p.S876Y|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.S950Y|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	950						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATCTCCAGTAGAAGAACACAA	0.323													7	58					2.0095e-06	2.15407e-06	1	0	T	196250051	G	T	196250051	3	4	25	1	0	0	0	0	1	0	0	0	8145	942	33	2	574	2	KCNT2	1	196250051	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	20877492	196250051	53000570	6	4828											
DENND1B	163486	broad.mit.edu	37	chr1	197552285	197552285	+	Frame_Shift_Del	DEL	C	C	-																															tggaggtccactcttacctgCttaaaaagctggaggttaat																										TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr1:197552285delC	ENST00000235453.4	-	15	1333	c.1056delG	c.(1054-1056)aafs	p.K352fs	DENND1B_ENST00000400967.2_Frame_Shift_Del_p.K352fs|DENND1B_ENST00000367396.3_Frame_Shift_Del_p.K382fs			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	382	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.K352K(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						CTCTTACCTGCTTAAAAAGCT	0.403													21	80	---	---	---	---					-	197552285	C	-	197552285	7	5	25	1	0	1	0	1	0	0	0	0	4464	796	28	0	1258	0	DENND1B	1	197552285	Frame_Shift_Del	DEL	C	TCGA-BA-A4II-01A-11D-A25Y-08	1302234	197552285	51698336	7	4829											
OBSCN	84033	broad.mit.edu	37	chr1	228495983	228495983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggctgtgcgggatggccGcatccacaccctgcggctga	5	7	16	13	3	0	1	0	1	0	0	1	2	1	2	3	5	2	3	3	5	0	0	rs56306215		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr1:228495983G>A	ENST00000570156.2	+	58	15583	c.15509G>A	c.(15508-15510)cGc>cAc	p.R5170H	OBSCN_ENST00000366709.4_Missense_Mutation_p.R1332H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1847H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4213H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4213H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4213	Ig-like 49.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGGATGGCCGCATCCACACC	0.632													3	30					0	0	0	0	A	228495983	G	A	228495983	3	1	25	1	0	0	0	0	1	0	0	0	10883	1087	38	1	12820	1	OBSCN	1	228495983	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	30943698	228495983	20754638	8	4830											
IRF2BP2	359948	broad.mit.edu	37	chr1	234743476	234743476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaggatgtaggagtcaTggggatcttgagcccctctg	11	9	14	7	0	3	2	1	1	2	1	3	5	3	5	2	4	1	1	2	4	3	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr1:234743476T>C	ENST00000366609.3	-	2	1201	c.1171A>G	c.(1171-1173)Atg>Gtg	p.M391V	IRF2BP2_ENST00000366610.3_Missense_Mutation_p.M375V|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GTAGGAGTCATGGGGATCTTG	0.612													9	84					0	0	0	0	C	234743476	T	C	234743476	3	2	25	1	0	0	0	0	1	0	0	0	7883	1464	51	5	596	5	IRF2BP2	1	234743476	Missense_Mutation	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08	6247493	234743476	14507145	9	4831											
RYR2	6262	broad.mit.edu	37	chr1	237713905	237713905	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttctggatgaccgaaccaAgaaatccaacaaggacagcc	15	6	8	12	1	2	2	0	1	2	1	3	5	3	4	4	2	3	0	4	2	5	1			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr1:237713905A>G	ENST00000366574.2	+	27	3445	c.3128A>G	c.(3127-3129)aAg>aGg	p.K1043R	RYR2_ENST00000360064.6_Missense_Mutation_p.K1041R|RYR2_ENST00000542537.1_Missense_Mutation_p.K1027R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1043	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACCGAACCAAGAAATCCAAC	0.507													3	10					0	0	0	0	G	237713905	A	G	237713905	3	3	25	1	0	0	0	0	1	0	0	0	13854	72	3	5	3234	5	RYR2	1	237713905	Missense_Mutation	SNP	A	TCGA-BA-A4II-01A-11D-A25Y-08	2970429	237713905	11536716	10	4832											
CHML	1122	broad.mit.edu	37	chr1	241798408	241798408	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgccttctttaactatttGagagtaagtaatcctatttc	10	17	5	9	0	1	1	0	1	1	1	3	2	2	1	3	0	2	2	3	0	5	9			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr1:241798408G>A	ENST00000366553.1	-	1	824	c.661C>T	c.(661-663)Caa>Taa	p.Q221*	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	221					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTAACTATTTGAGAGTAAGTA	0.328													40	156					0	0	0	0	A	241798408	G	A	241798408	4	1	25	1	0	0	0	0	0	1	0	0	3380	1299	45	2	1313	2	CHML	1	241798408	Nonsense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	4084503	241798408	7452213	11	4833											
NLRP3	114548	broad.mit.edu	37	chr1	247587832	247587832	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agaaactgcagcacttgctgGaccatcctcggcatgtggag	10	8	12	11	1	0	1	0	0	0	1	2	3	1	3	2	3	4	4	2	3	1	1			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr1:247587832G>C	ENST00000366497.2	+	4	1867	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H	NLRP3_ENST00000348069.2_Missense_Mutation_p.D363H|NLRP3_ENST00000391827.2_Missense_Mutation_p.D363H|NLRP3_ENST00000391828.3_Missense_Mutation_p.D363H|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.D363H|NLRP3_ENST00000336119.3_Missense_Mutation_p.D363H	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	363	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCACTTGCTGGACCATCCTCG	0.552													17	96					0	0	0	0	C	247587832	G	C	247587832	3	2	25	1	0	0	0	0	1	0	0	0	10548	1174	41	2	1097	2	NLRP3	1	247587832	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	5789424	247587832	1662789	12	4834											
ID2	3398	broad.mit.edu	37	chr2	8822561	8822561	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccactattgtcagcctgcAtcaccagagacccgggcaga	10	7	9	15	1	2	2	2	0	0	2	3	3	3	2	4	1	2	2	4	1	1	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr2:8822561A>G	ENST00000234091.4	+	3	1126	c.266A>G	c.(265-267)cAt>cGt	p.H89R	ID2_ENST00000396290.1_Missense_Mutation_p.H89R|ID2_ENST00000331129.3_Missense_Mutation_p.H89R			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	89					cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCAGCCTGCATCACCAGAGA	0.577													7	75					0	0	0	0	G	8822561	A	G	8822561	3	3	25	1	0	0	0	0	1	0	0	0	7543	217	8	5	268	5	ID2	2	8822561	Missense_Mutation	SNP	A	TCGA-BA-A4II-01A-11D-A25Y-08		8822561	234376812	13	4835											
TRMT61B	55006	broad.mit.edu	37	chr2	29092581	29092581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccacgatcttgccgaacGggactgccccccagttacta	8	8	8	17	3	1	0	0	0	1	0	2	3	2	1	6	1	4	1	6	1	3	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr2:29092581G>A	ENST00000306108.5	-	1	586	c.563C>T	c.(562-564)cCg>cTg	p.P188L		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	188							tRNA (adenine-N1-)-methyltransferase activity	p.P188Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CTTGCCGAACGGGACTGCCCC	0.473													13	129					0	0	0	0	A	29092581	G	A	29092581	3	1	25	1	0	0	0	0	1	0	0	0	16665	1116	39	1	898	1	TRMT61B	2	29092581	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	20270020	29092581	214106792	14	4836											
MRPS5	64969	broad.mit.edu	37	chr2	95774025	95774025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcttctttcggtcccactCttctctctgctggatcatgt	3	18	6	14	1	6	0	1	0	5	0	9	1	7	1	1	2	1	1	1	2	0	4			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr2:95774025C>T	ENST00000272418.2	-	5	740	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	178					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CGGTCCCACTCTTCTCTCTGC	0.532													20	98					0	0	0	0	T	95774025	C	T	95774025	3	4	25	1	0	0	0	0	1	0	0	0	9916	922	32	2	792	2	MRPS5	2	95774025	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	66681444	95774025	147425348	15	4837											
VWA3B	200403	broad.mit.edu	37	chr2	98851130	98851130	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatcaaccaaaaccagcctGctcagaagccagatgtcctc	14	6	7	14	0	2	2	2	0	0	2	4	3	3	2	5	0	5	1	5	0	5	0			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr2:98851130G>T	ENST00000477737.1	+	17	2532	c.2328G>T	c.(2326-2328)ctG>ctT	p.L776L		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	776										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAACCAGCCTGCTCAGAAGCC	0.473													9	54					5.4927e-09	6.10756e-09	1	0	T	98851130	G	T	98851130	2	4	25	1	0	0	0	0	0	0	0	1	17337	1306	46	4		4	VWA3B	2	98851130	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	3077105	98851130	144348243	16	4838											
DARS	1615	broad.mit.edu	37	chr2	136743008	136743008	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctcccgcggcttctcctGactcttgcggctggcgctgg	2	11	13	15	4	3	1	0	1	3	0	5	2	3	1	2	4	1	3	2	4	0	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr2:136743008G>A	ENST00000264161.4	-	1	246	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	AC093391.2_ENST00000419808.1_RNA|DARS_ENST00000537273.1_5'UTR|AC093391.2_ENST00000444406.1_RNA|AC093391.2_ENST00000438432.1_RNA	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	11					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GGCTTCTCCTGACTCTTGCGG	0.687													4	38					0	0	0	0	A	136743008	G	A	136743008	4	1	25	1	0	0	0	0	0	1	0	0	4274	1299	45	2	1538	2	DARS	2	136743008	Nonsense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	37891878	136743008	106456365	17	4839											
THSD7B	80731	broad.mit.edu	37	chr2	138169279	138169279	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatatcccaaccttatggAaactggtcagattgcattct	11	15	6	9	0	2	1	1	0	1	1	3	2	3	2	2	2	3	1	2	2	5	6			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr2:138169279A>G	ENST00000409968.1	+	14	2974	c.2796A>G	c.(2794-2796)ggA>ggG	p.G932G	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.G901G|THSD7B_ENST00000272643.3_Silent_p.G932G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACCTTATGGAAACTGGTCAG	0.478													19	129					0	0	0	0	G	138169279	A	G	138169279	2	3	25	1	0	0	0	0	0	0	0	1	15974	233	9	5		5	THSD7B	2	138169279	Silent	SNP	A	TCGA-BA-A4II-01A-11D-A25Y-08	1426271	138169279	105030094	18	4840											
PARD3B	117583	broad.mit.edu	37	chr2	206480461	206480461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggcagaccagggccccGtgggggcagcccagaccagt	10	2	15	14	1	0	2	0	0	0	2	0	2	0	2	5	4	2	2	5	4	1	0			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr2:206480461G>T	ENST00000406610.2	+	23	3749	c.3542G>T	c.(3541-3543)cGt>cTt	p.R1181L	PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000349953.3_Missense_Mutation_p.R1080L|PARD3B_ENST00000351153.1_Missense_Mutation_p.R1112L|PARD3B_ENST00000358768.2_Missense_Mutation_p.R1119L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1181					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCAGGGCCCCGTGGGGGCAGC	0.627													16	101					7.05477e-17	8.27685e-17	1	0	T	206480461	G	T	206480461	3	4	25	1	0	0	0	0	1	0	0	0	11515	1145	40	3	3632	3	PARD3B	2	206480461	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	68311182	206480461	36718912	19	4841											
B3GNT7	93010	broad.mit.edu	37	chr2	232262479	232262479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagtctgtgcctggccctgGccctgctcgtggccgtgacg	2	9	16	14	3	1	1	0	1	1	0	2	2	1	2	4	4	2	1	4	4	0	0			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr2:232262479G>A	ENST00000287590.5	+	2	310	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	17					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CCTGGCCCTGGCCCTGCTCGT	0.632													11	57					0	0	0	0	A	232262479	G	A	232262479	3	1	25	1	0	0	0	0	1	0	0	0	1266	1203	42	4	55	4	B3GNT7	2	232262479	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	25782018	232262479	10936894	20	4842											
CNTN4	152330	broad.mit.edu	37	chr3	2944593	2944593	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcaaggaacactcaacAtaacaatagtgaacctctca	17	8	6	10	0	2	2	2	2	1	0	3	3	2	3	1	1	5	1	1	1	7	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr3:2944593A>G	ENST00000397461.1	+	11	1495	c.1111A>G	c.(1111-1113)Ata>Gta	p.I371V	CNTN4_ENST00000448906.2_Missense_Mutation_p.I43V|CNTN4_ENST00000397459.2_Missense_Mutation_p.I43V|CNTN4_ENST00000427331.1_Missense_Mutation_p.I371V|CNTN4_ENST00000358480.3_Missense_Mutation_p.I152V|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000418658.1_Missense_Mutation_p.I371V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	371	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AACACTCAACATAACAATAGT	0.373													18	35					0	0	0	0	G	2944593	A	G	2944593	3	3	25	1	0	0	0	0	1	0	0	0	3673	217	8	5	1145	5	CNTN4	3	2944593	Missense_Mutation	SNP	A	TCGA-BA-A4II-01A-11D-A25Y-08		2944593	195077837	21	4843											
COL7A1	1294	broad.mit.edu	37	chr3	48625824	48625824	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcgtccccagggctggCggagcctcaggcgctggaga	7	5	17	12	3	1	2	1	1	0	1	2	4	2	3	3	5	2	2	3	5	1	0			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr3:48625824C>T	ENST00000328333.8	-	20	2708	c.2601G>A	c.(2599-2601)ccG>ccA	p.P867P	COL7A1_ENST00000454817.1_Silent_p.P867P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	867	Fibronectin type-III 8.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGGGCTGGCGGAGCCTCAG	0.706													3	14					0	0	0	0	T	48625824	C	T	48625824	2	4	25	1	0	0	0	0	0	0	0	1	3734	755	27	1		1	COL7A1	3	48625824	Silent	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	45681231	48625824	149396606	22	4844											
DOCK3	1795	broad.mit.edu	37	chr3	51101894	51101894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagaaacacaaagtagatCttttctacaaactacgccat	16	11	4	10	1	3	2	1	0	2	2	3	2	3	2	1	0	4	1	1	0	6	6			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr3:51101894C>T	ENST00000266037.9	+	6	354	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	111						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAAAGTAGATCTTTTCTACAA	0.408													12	93					0	0	0	0	T	51101894	C	T	51101894	3	4	25	1	0	0	0	0	1	0	0	0	4724	913	32	2	353	2	DOCK3	3	51101894	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	2476070	51101894	146920536	23	4845											
RFT1	91869	broad.mit.edu	37	chr3	53133435	53133435	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcatggcagcaaatgtgaaAcactctgtcactccattgat	12	11	7	11	0	3	2	2	2	1	0	4	2	4	2	1	1	2	2	1	1	2	1			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr3:53133435A>G	ENST00000607203.1	-	1	34	c.35T>C	c.(34-36)gTt>gCt	p.V12A	RFT1_ENST00000296292.3_Silent_p.C390C|RFT1_ENST00000394738.3_Silent_p.C351C																							CAAATGTGAAACACTCTGTCA	0.468													8	52					0	0	0	0	G	53133435	A	G	53133435	3	3	25	1	0	0	0	0	1	0	0	0	13339	41	2	5	467	5	RFT1	3	53133435	Missense_Mutation	SNP	A	TCGA-BA-A4II-01A-11D-A25Y-08	2031541	53133435	144888995	24	4846											
GOLGB1	2804	broad.mit.edu	37	chr3	121396297	121396297	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcccaggaactcttctccatCctagaaaaaacatgacacaa	16	8	4	13	0	2	2	0	1	2	1	5	3	4	3	3	1	2	0	3	1	6	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr3:121396297C>T	ENST00000393667.3	-	16	8984	c.8873_splice	c.e16-1	p.R2958_splice	GOLGB1_ENST00000340645.5_Splice_Site_p.R2953_splice	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2953					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTCTCCATCCTAGAAAAAA	0.413													15	77					0	0	0	0	T	121396297	C	T	121396297	5	4	25	1	0	0	0	0	0	0	1	0	6613	869	30	2	948	2	GOLGB1	3	121396297	Splice_Site	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	68262862	121396297	76626133	25	4847											
SEC22A	26984	broad.mit.edu	37	chr3	122944059	122944059	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctgaggcctccttatcaAatttccatgtgcgaactggg	10	11	10	10	1	1	1	1	1	0	0	3	2	3	1	3	2	3	1	3	2	4	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr3:122944059A>C	ENST00000309934.4	+	3	1352	c.456A>C	c.(454-456)caA>caC	p.Q152H	SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000492595.1_Missense_Mutation_p.Q152H	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	152					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		CTCCTTATCAAATTTCCATGT	0.433													20	153					0	0	0	0	C	122944059	A	C	122944059	3	2	25	1	0	0	0	0	1	0	0	0	14075	11	1	5	466	5	SEC22A	3	122944059	Missense_Mutation	SNP	A	TCGA-BA-A4II-01A-11D-A25Y-08	1547762	122944059	75078371	26	4848											
RAB7A	7879	broad.mit.edu	37	chr3	128532230	128532230	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaactggacaagaatgacCgggccaaggcctcggcagaa	14	4	12	11	2	1	3	1	1	0	2	2	4	1	4	3	4	1	1	3	4	5	0			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr3:128532230C>A	ENST00000265062.3	+	6	835	c.589C>A	c.(589-591)Cgg>Agg	p.R197R	RAB7A_ENST00000482525.1_Silent_p.R150R|RAB7A_ENST00000485280.1_Silent_p.R81R	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	197					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		CAAGAATGACCGGGCCAAGGC	0.507													36	223					9.65963e-10	1.08217e-09	1	0	A	128532230	C	A	128532230	2	1	25	1	0	0	0	0	0	0	0	1	13036	643	23	3		3	RAB7A	3	128532230	Silent	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	5588171	128532230	69490200	27	4849											
TNIK	23043	broad.mit.edu	37	chr3	170858223	170858223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcctcctctcctcctcccGgcgcatctgctcctcatagt	4	11	6	20	3	3	0	1	0	2	0	8	0	7	0	6	1	1	2	6	1	1	1			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr3:170858223G>A	ENST00000436636.2	-	13	1641	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	TNIK_ENST00000475336.1_Missense_Mutation_p.R433W|TNIK_ENST00000488470.1_Missense_Mutation_p.R433W|TNIK_ENST00000538048.1_Missense_Mutation_p.R433W|TNIK_ENST00000369326.5_Missense_Mutation_p.R433W|TNIK_ENST00000470834.1_Missense_Mutation_p.R433W|TNIK_ENST00000341852.6_Missense_Mutation_p.R433W|TNIK_ENST00000284483.8_Missense_Mutation_p.R433W|TNIK_ENST00000357327.5_Missense_Mutation_p.R433W|TNIK_ENST00000460047.1_Missense_Mutation_p.R433W	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	433	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCTCCTCCCGGCGCATCTGC	0.652													16	223					0	0	0	0	A	170858223	G	A	170858223	3	1	25	1	0	0	0	0	1	0	0	0	16407	1115	39	1	2869	1	TNIK	3	170858223	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	42325993	170858223	27164207	28	4850											
STK32B	55351	broad.mit.edu	37	chr4	5170100	5170100	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaagcagaagtgcatcgaGagggatgaggttcggaatgt	14	7	15	5	2	0	3	0	1	0	2	2	6	0	5	0	3	3	3	0	3	4	1			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr4:5170100G>A	ENST00000282908.5	+	3	605	c.183G>A	c.(181-183)gaG>gaA	p.E61E	STK32B_ENST00000510398.1_Silent_p.E14E|STK32B_ENST00000512636.1_Silent_p.E14E	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	61	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AGTGCATCGAGAGGGATGAGG	0.517													5	28					0	0	0	0	A	5170100	G	A	5170100	2	1	25	1	0	0	0	0	0	0	0	1	15388	933	33	2		2	STK32B	4	5170100	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08		5170100	185984176	29	4851											
JAKMIP1	152789	broad.mit.edu	37	chr4	6082016	6082016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtatgccgcttcagagaCgcctgcgctgacagcttttc	7	10	12	12	3	1	2	1	1	0	1	2	4	1	2	2	1	3	4	2	1	1	4	rs150623866		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr4:6082016C>T	ENST00000409021.3	-	7	1574	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	JAKMIP1_ENST00000282924.5_Silent_p.A375A|JAKMIP1_ENST00000409831.1_Silent_p.A375A|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Silent_p.A210A|JAKMIP1_ENST00000410077.2_Silent_p.A210A	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	375	Mediates interaction with TYK2 and GABBR1.		A -> V (in a colorectal cancer sample; somatic mutation).		protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTCAGAGACGCCTGCGCTG	0.577													4	35					0	0	0	0	T	6082016	C	T	6082016	2	4	25	1	0	0	0	0	0	0	0	1	7993	523	19	1		1	JAKMIP1	4	6082016	Silent	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	911916	6082016	185072260	30	4852											
FRYL	285527	broad.mit.edu	37	chr4	48578177	48578177	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggatcagatagtttctcCacaggccaatgtatgagtca	14	10	9	8	0	3	2	2	1	1	1	4	3	3	3	2	2	0	2	2	2	4	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr4:48578177C>G	ENST00000358350.4	-	24	3195	c.2591G>C	c.(2590-2592)tGg>tCg	p.W864S	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.W864S|FRYL_ENST00000503238.1_Missense_Mutation_p.W864S|FRYL_ENST00000507711.1_Missense_Mutation_p.W864S	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	864					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATAGTTTCTCCACAGGCCAAT	0.438													19	97					0	0	0	0	G	48578177	C	G	48578177	3	3	25	1	0	0	0	0	1	0	0	0	6112	595	21	4	6614	4	FRYL	4	48578177	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	42496161	48578177	142576099	31	4853											
IRX1	79192	broad.mit.edu	37	chr5	3599913	3599913	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggactcgcccttgggccTggcaaaggaggccccagagc	8	4	14	15	1	0	1	0	0	0	1	1	3	0	3	5	5	1	1	5	5	1	1			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr5:3599913T>A	ENST00000302006.3	+	2	903	c.851T>A	c.(850-852)cTg>cAg	p.L284Q	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	284						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCCTTGGGCCTGGCAAAGGAG	0.741													3	13					0	0	0	0	A	3599913	T	A	3599913	3	1	25	1	0	0	0	0	1	0	0	0	7896	1580	55	5	857	5	IRX1	5	3599913	Missense_Mutation	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08		3599913	177315347	32	4854											
CDH10	1008	broad.mit.edu	37	chr5	24535227	24535227	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taaagggtgcttactctgggGgaaacgtggtgggttgtcat	8	12	16	5	1	2	0	1	0	1	0	2	1	2	1	0	5	3	2	0	5	4	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr5:24535227G>C	ENST00000264463.4	-	5	1315	c.808C>G	c.(808-810)Ccc>Gcc	p.P270A		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	270	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTACTCTGGGGGAAACGTGGT	0.458										HNSCC(23;0.051)			5	50					0	0	0	0	C	24535227	G	C	24535227	3	2	25	1	0	0	0	0	1	0	0	0	3125	1232	43	4	1590	4	CDH10	5	24535227	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	20935314	24535227	156380033	33	4855											
C6	729	broad.mit.edu	37	chr5	41176735	41176735	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttaagtgctttcaaaaagAcatcagaaaggtgcagatct	15	10	10	6	0	3	3	2	0	1	3	3	3	3	3	0	2	2	3	0	2	4	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr5:41176735A>T	ENST00000263413.3	-	8	1274	c.1010T>A	c.(1009-1011)gTc>gAc	p.V337D	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.V337D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	337	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTCAAAAAGACATCAGAAAG	0.383													18	82					0	0	0	0	T	41176735	A	T	41176735	3	4	25	1	0	0	0	0	1	0	0	0	2336	275	10	5	1838	5	C6	5	41176735	Missense_Mutation	SNP	A	TCGA-BA-A4II-01A-11D-A25Y-08	16641508	41176735	139738525	34	4856											
HCN1	348980	broad.mit.edu	37	chr5	45462012	45462012	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtagtggtactaagaacTgaagacaaccatcccagtgg	14	7	11	9	0	0	3	0	1	0	2	1	3	1	3	2	2	3	3	2	2	6	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr5:45462012T>G	ENST00000303230.4	-	3	1004	c.947A>C	c.(946-948)cAg>cCg	p.Q316P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	316						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TACTAAGAACTGAAGACAACC	0.423													8	41					0	0	0	0	G	45462012	T	G	45462012	3	3	25	1	0	0	0	0	1	0	0	0	7046	1580	55	5	1749	5	HCN1	5	45462012	Missense_Mutation	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08	4285277	45462012	135453248	35	4857											
PDE8B	8622	broad.mit.edu	37	chr5	76708950	76708950	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggccattggtttatcTgggcttaaaggtcttctctc	6	17	9	9	0	4	0	1	0	3	0	6	0	4	0	1	4	0	2	1	4	3	6			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr5:76708950T>A	ENST00000264917.5	+	17	1772	c.1727T>A	c.(1726-1728)cTg>cAg	p.L576Q	PDE8B_ENST00000346042.3_Missense_Mutation_p.L479Q|PDE8B_ENST00000505283.1_Missense_Mutation_p.L41Q|PDE8B_ENST00000342343.4_Missense_Mutation_p.L556Q|PDE8B_ENST00000340978.3_Missense_Mutation_p.L529Q|PDE8B_ENST00000333194.4_Missense_Mutation_p.L521Q	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	576					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TTGGTTTATCTGGGCTTAAAG	0.448													12	135					0	0	0	0	A	76708950	T	A	76708950	3	1	25	1	0	0	0	0	1	0	0	0	11725	1580	55	5	1793	5	PDE8B	5	76708950	Missense_Mutation	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08	31246938	76708950	104206310	36	4858											
LYSMD3	116068	broad.mit.edu	37	chr5	89815001	89815001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgctgttaaggccgataCtacctcattgaggttctctc	7	15	9	10	1	2	1	1	1	1	0	4	2	2	1	2	2	3	3	2	2	3	6			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr5:89815001C>A	ENST00000315948.6	-	3	700	c.556G>T	c.(556-558)Gta>Tta	p.V186L	LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	186					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		AAGGCCGATACTACCTCATTG	0.408													22	113					7.33628e-21	8.67544e-21	1	0	A	89815001	C	A	89815001	3	1	25	1	0	0	0	0	1	0	0	0	9191	565	20	4	368	4	LYSMD3	5	89815001	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	13106051	89815001	91100259	37	4859											
FBXL17	64839	broad.mit.edu	37	chr5	107216852	107216852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccacagtctctattgtCatgctgtatcgcccaatggc	9	12	7	13	1	2	0	1	0	1	0	5	0	3	0	2	1	1	2	2	1	3	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr5:107216852C>A	ENST00000542267.1	-	8	2257	c.1851G>T	c.(1849-1851)atG>atT	p.M617I	FBXL17_ENST00000496714.1_Missense_Mutation_p.M219I|FBXL17_ENST00000359660.5_Missense_Mutation_p.M219I	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	617										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TCTCTATTGTCATGCTGTATC	0.458													13	94					1.5842e-08	1.73563e-08	1	0	A	107216852	C	A	107216852	3	1	25	1	0	0	0	0	1	0	0	0	5758	826	29	2	262	2	FBXL17	5	107216852	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	17401851	107216852	73698408	38	4860											
PCDHB12	56124	broad.mit.edu	37	chr5	140590357	140590357	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatggcgaggtgcgcacCgccaggctgctgagcgagcg	8	4	16	13	5	0	1	0	1	0	0	0	3	0	1	2	3	4	3	2	3	1	0			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr5:140590357C>T	ENST00000239450.2	+	1	2067	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	PCDHB12_ENST00000541609.1_Silent_p.T289T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		626	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGCGCACCGCCAGGCTGC	0.701													16	110					0	0	0	0	T	140590357	C	T	140590357	2	4	25	1	0	0	0	0	0	0	0	1	11608	639	23	1		1	PCDHB12	5	140590357	Silent	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	33373505	140590357	40324903	39	4861											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720964	140720964	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagaaacgttttctcaggTaatctatcttttcacaacat	14	14	5	8	1	4	2	2	0	3	2	5	2	4	2	0	1	2	2	0	1	5	6			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr5:140720964T>C	ENST00000394576.2	+	1	2424		c.e1+2		PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCTCAGGTAATCTATCTT	0.393													9	96					0	0	0	0	C	140720964	T	C	140720964	5	2	25	1	0	0	0	0	0	0	1	0	11625	1652	57	5	2428	5	PCDHGA2	5	140720964	Splice_Site	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08	130607	140720964	40194296	40	4862											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745430	140745430	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatccattaactctgacacCggtgtcctgtatgctctgag	8	13	9	11	1	2	2	0	2	2	0	4	2	4	2	3	1	2	3	3	1	3	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr5:140745430C>T	ENST00000518069.1	+	1	1533	c.1533C>T	c.(1531-1533)acC>acT	p.T511T	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTGACACCGGTGTCCTGT	0.557													26	231					0	0	0	0	T	140745430	C	T	140745430	2	4	25	1	0	0	0	0	0	0	0	1	11628	639	23	1		1	PCDHGA5	5	140745430	Silent	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	24466	140745430	40169830	41	4863											
SLC36A2	153201	broad.mit.edu	37	chr5	150723748	150723748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcttaccaggatgcccGcgttcttcacagcgaggggt	6	10	11	14	3	3	0	1	0	2	0	4	2	3	1	3	3	3	1	3	3	1	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr5:150723748G>A	ENST00000335244.4	-	2	374	c.245C>T	c.(244-246)gCg>gTg	p.A82V	SLC36A2_ENST00000521967.1_Missense_Mutation_p.A82V	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	82					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGATGCCCGCGTTCTTCAC	0.547													6	26					0	0	0	0	A	150723748	G	A	150723748	3	1	25	1	0	0	0	0	1	0	0	0	14682	1087	38	1	1242	1	SLC36A2	5	150723748	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	9978318	150723748	30191512	42	4864											
BMP6	654	broad.mit.edu	37	chr6	7862723	7862723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtggcgcgggtctccaGtgcttcaggtgggtttgtgg	3	11	19	8	3	2	0	1	0	1	0	3	1	2	1	1	6	1	2	1	6	0	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr6:7862723G>T	ENST00000283147.6	+	4	1355	c.1196G>T	c.(1195-1197)aGt>aTt	p.S399I		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	399					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CGGGTCTCCAGTGCTTCAGGT	0.592													5	50					0.184627	0.185875	1	0	T	7862723	G	T	7862723	3	4	25	1	0	0	0	0	1	0	0	0	1469	1029	36	4	1210	4	BMP6	6	7862723	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08		7862723	163252344	43	4865											
LRRC16A	55604	broad.mit.edu	37	chr6	25600788	25600788	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cacaatggcaattctgaacgGatagaggagataaaaacacc	18	6	9	8	1	1	3	0	1	1	2	1	5	1	4	1	3	2	1	1	3	7	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr6:25600788G>C	ENST00000329474.6	+	33	3734	c.3366G>C	c.(3364-3366)cgG>cgC	p.R1122R		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1122					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATTCTGAACGGATAGAGGAGA	0.537													14	70					0	0	0	0	C	25600788	G	C	25600788	2	2	25	1	0	0	0	0	0	0	0	1	9035	1161	41	2		2	LRRC16A	6	25600788	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	17738065	25600788	145514279	44	4866											
BTN3A3	10384	broad.mit.edu	37	chr6	26452430	26452430	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaccatttgcccaataccaAaagaagtagagagttccccc	14	8	7	12	0	0	3	0	1	0	2	1	4	1	3	5	0	2	2	5	0	6	4			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr6:26452430A>G	ENST00000244519.2	+	11	1789	c.1546A>G	c.(1546-1548)Aaa>Gaa	p.K516E	BTN3A3_ENST00000361232.3_Missense_Mutation_p.K467E|BTN3A3_ENST00000339789.4_Missense_Mutation_p.K474E	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	516	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CCCAATACCAAAAGAAGTAGA	0.517													15	111					0	0	0	0	G	26452430	A	G	26452430	3	3	25	1	0	0	0	0	1	0	0	0	1573	15	1	5	1580	5	BTN3A3	6	26452430	Missense_Mutation	SNP	A	TCGA-BA-A4II-01A-11D-A25Y-08	851642	26452430	144662637	45	4867											
HSD17B8	7923	broad.mit.edu	37	chr6	33173308	33173308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcaacatcagtagcatcGtaggaaaggtcaggttgagt	13	10	11	7	1	4	1	4	1	0	0	5	2	4	2	0	3	2	4	0	3	4	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr6:33173308G>C	ENST00000374662.3	+	4	499	c.472G>C	c.(472-474)Gta>Cta	p.V158L	HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	158			V -> L (in a breast cancer sample; somatic mutation).		estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity	p.V158L(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9					NADH(DB00157)	CAGTAGCATCGTAGGAAAGGT	0.537													8	110					0	0	0	0	C	33173308	G	C	33173308	3	2	25	1	0	0	0	0	1	0	0	0	7439	1145	40	3	486	3	HSD17B8	6	33173308	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	6720878	33173308	137941759	46	4868											
UBR2	23304	broad.mit.edu	37	chr6	42630014	42630014	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcatgcccattgttggcaaAggtaatgtatattcttaata	12	15	8	6	0	1	0	0	0	1	0	1	0	1	0	1	2	2	5	1	2	6	8			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr6:42630014A>G	ENST00000372901.1	+	31	3793	c.3536_splice	c.e31+1	p.R1179_splice	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Splice_Site_p.R1179_splice			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1179					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTGTTGGCAAAGGTAATGTAT	0.333													41	115					0	0	0	0	G	42630014	A	G	42630014	5	3	25	1	0	0	0	0	0	0	1	0	16998	86	3	5	3803	5	UBR2	6	42630014	Splice_Site	SNP	A	TCGA-BA-A4II-01A-11D-A25Y-08	9456706	42630014	128485053	47	4869											
ZNF318	24149	broad.mit.edu	37	chr6	43323121	43323121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcggtcagctgagaagcGgtggtcaactgaggaacagt	12	6	15	8	2	2	2	2	2	0	1	2	4	2	3	0	4	5	1	0	4	3	0	rs150884238		TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr6:43323121G>A	ENST00000361428.2	-	4	2028	c.1951C>T	c.(1951-1953)Cgc>Tgc	p.R651C	ZNF318_ENST00000318149.3_Missense_Mutation_p.R651C	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	651					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTGAGAAGCGGTGGTCAACT	0.537													10	110					0	0	0	0	A	43323121	G	A	43323121	3	1	25	1	0	0	0	0	1	0	0	0	17931	1116	39	1	4916	1	ZNF318	6	43323121	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	693107	43323121	127791946	48	4870			1	7		2	2	21	N	T_G	7.364851e-05
ZNF318	24149	broad.mit.edu	37	chr6	43323141	43323141	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtcaactgaggaacagTggtcagctgaaaagtatcgg	12	8	15	6	1	2	2	2	2	0	0	3	3	2	3	0	5	3	2	0	5	5	1			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr6:43323141T>C	ENST00000361428.2	-	4	2008	c.1931A>G	c.(1930-1932)cAc>cGc	p.H644R	ZNF318_ENST00000318149.3_Missense_Mutation_p.H644R	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	644					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGAGGAACAGTGGTCAGCTGA	0.547													16	109					0	0	0	0	C	43323141	T	C	43323141	3	2	25	1	0	0	0	0	1	0	0	0	17931	1696	59	5	4936	5	ZNF318	6	43323141	Missense_Mutation	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08	20	43323141	127791926	49	4871			1	7		2	2	21	N	T_G	7.364851e-05
TNFRSF21	27242	broad.mit.edu	37	chr6	47200709	47200709	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtccaggcgtacctgcCgcaacactgtgtccttcttt	6	11	11	13	2	1	0	0	0	1	0	3	0	3	0	4	3	3	2	4	3	2	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr6:47200709C>G	ENST00000296861.2	-	6	2153	c.1760G>C	c.(1759-1761)cGg>cCg	p.R587P		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	587					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GCGTACCTGCCGCAACACTGT	0.532													50	109					0	0	0	0	G	47200709	C	G	47200709	3	3	25	1	0	0	0	0	1	0	0	0	16389	652	23	3	211	3	TNFRSF21	6	47200709	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	3877568	47200709	123914358	50	4872											
OPN5	221391	broad.mit.edu	37	chr6	47762987	47762987	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggctgaaaagaaagcaCgcctacatctgcctggcagc	11	8	11	11	1	1	2	0	1	1	1	1	2	1	2	2	2	4	4	2	2	4	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr6:47762987C>T	ENST00000489301.2	+	4	529	c.444C>T	c.(442-444)caC>caT	p.H148H	OPN5_ENST00000393699.2_Silent_p.H148H|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Silent_p.H148H			Q6U736	OPN5_HUMAN	opsin 5	148					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AAAGAAAGCACGCCTACATCT	0.547													6	33					0	0	0	0	T	47762987	C	T	47762987	2	4	25	1	0	0	0	0	0	0	0	1	10954	535	19	1		1	OPN5	6	47762987	Silent	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	562278	47762987	123352080	51	4873											
LRRC1	55227	broad.mit.edu	37	chr6	53747727	53747727	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacagaatttaacatgtctTtctgtaaatgacatctcact	13	16	4	8	0	3	2	1	1	3	1	4	2	3	2	0	0	2	1	0	0	5	5			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr6:53747727T>C	ENST00000370888.1	+	4	676	c.399T>C	c.(397-399)ctT>ctC	p.L133L	LRRC1_ENST00000370882.1_Silent_p.L133L	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	133						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TAACATGTCTTTCTGTAAATG	0.333													14	33					0	0	0	0	C	53747727	T	C	53747727	2	2	25	1	0	0	0	0	0	0	0	1	9030	1828	64	5		5	LRRC1	6	53747727	Silent	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08	5984740	53747727	117367340	52	4874											
TRDN	10345	broad.mit.edu	37	chr6	123542661	123542661	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgggagacacatcttcaGttccttctagtggataaaaa	12	13	9	7	0	3	1	1	0	2	1	4	3	4	2	1	2	0	1	1	2	4	6			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr6:123542661G>T	ENST00000334268.4	-	39	2314	c.1997C>A	c.(1996-1998)aCt>aAt	p.T666N	TRDN_ENST00000398178.3_Missense_Mutation_p.T674N			Q13061	TRDN_HUMAN	triadin	674					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CACATCTTCAGTTCCTTCTAG	0.269													4	18					0.150653	0.153749	1	0	T	123542661	G	T	123542661	3	4	25	1	0	0	0	0	1	0	0	0	16563	1029	36	4	176	4	TRDN	6	123542661	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	69794934	123542661	47572406	53	4875											
ENPP3	5169	broad.mit.edu	37	chr6	132059223	132059223	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaacatgccacagaaagAaatggagtaaatgtggttag	19	8	10	4	0	0	2	0	0	0	2	0	3	0	3	1	2	2	2	1	2	7	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr6:132059223A>T	ENST00000414305.1	+	24	2548	c.2220A>T	c.(2218-2220)agA>agT	p.R740S	ENPP3_ENST00000357639.3_Missense_Mutation_p.R740S|ENPP3_ENST00000358229.5_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	740	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCACAGAAAGAAATGGAGTAA	0.313													15	69					0	0	0	0	T	132059223	A	T	132059223	3	4	25	1	0	0	0	0	1	0	0	0	5169	243	9	5	2310	5	ENPP3	6	132059223	Missense_Mutation	SNP	A	TCGA-BA-A4II-01A-11D-A25Y-08	8516562	132059223	39055844	54	4876											
SLC35B4	84912	broad.mit.edu	37	chr7	133986850	133986850	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggcaatggaggtatatttGaatatactgtatctgcaaaa	15	12	10	4	0	1	1	0	1	1	0	1	2	1	2	0	3	2	4	0	3	9	6			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr7:133986850G>C	ENST00000378509.4	-	5	656	c.357C>G	c.(355-357)ttC>ttG	p.F119L		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	119				F -> S (in Ref. 6; BAD96594).		Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						AGGTATATTTGAATATACTGT	0.353													13	53					0	0	0	0	C	133986850	G	C	133986850	3	2	25	1	0	0	0	0	1	0	0	0	14666	1281	45	2	662	2	SLC35B4	7	133986850	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08		133986850	25151813	55	4877											
ERI1	90459	broad.mit.edu	37	chr8	8869081	8869081	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttctaaagaagagacTgaaaaactattataagaagc	19	9	9	4	0	1	4	0	1	1	3	1	6	1	5	0	1	2	1	0	1	9	5			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr8:8869081T>A	ENST00000523898.1	+	4	996	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	ERI1_ENST00000519292.1_Missense_Mutation_p.L106Q|ERI1_ENST00000250263.7_Missense_Mutation_p.L106Q			Q8IV48	ERI1_HUMAN	exoribonuclease 1	106	SAP.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	AAGAAGAGACTGAAAAACTAT	0.348													10	43					0	0	0	0	A	8869081	T	A	8869081	3	1	25	1	0	0	0	0	1	0	0	0	5265	1580	55	5	327	5	ERI1	8	8869081	Missense_Mutation	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08		8869081	137494941	56	4878											
HR	55806	broad.mit.edu	37	chr8	21973240	21973240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctgtaatgtccccacGgccaccttcactgcttggaa	7	10	8	16	1	1	0	1	0	0	0	3	1	3	1	6	2	1	2	6	2	2	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr8:21973240G>A	ENST00000381418.4	-	19	5023	c.3543C>T	c.(3541-3543)gcC>gcT	p.A1181A	HR_ENST00000312841.8_Silent_p.A1126A	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1181							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ATGTCCCCACGGCCACCTTCA	0.567													10	27					0	0	0	0	A	21973240	G	A	21973240	2	1	25	1	0	0	0	0	0	0	0	1	7397	1103	39	1		1	HR	8	21973240	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	13104159	21973240	124390782	57	4879											
GPR124	25960	broad.mit.edu	37	chr8	37687410	37687410	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctgtgactgccacctgcGctggctgctgccctgggccc	3	8	13	17	1	0	1	0	1	0	0	0	2	0	1	5	2	4	3	5	2	0	0			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr8:37687410G>C	ENST00000315215.7	+	6	959	c.596G>C	c.(595-597)cGc>cCc	p.R199P	GPR124_ENST00000412232.2_Missense_Mutation_p.R199P			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	199	LRRCT.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGCCACCTGCGCTGGCTGCTG	0.667													13	52					0	0	0	0	C	37687410	G	C	37687410	3	2	25	1	0	0	0	0	1	0	0	0	6687	1087	38	3	597	3	GPR124	8	37687410	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	15714170	37687410	108676612	58	4880											
GPR124	25960	broad.mit.edu	37	chr8	37696570	37696570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctctgcctcttcGccaccatcatcacctacatc	6	12	5	18	1	4	0	2	0	2	0	6	0	4	0	4	0	5	3	4	0	1	2	rs139221615	byFrequency	TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr8:37696570G>A	ENST00000315215.7	+	12	2068	c.1705G>A	c.(1705-1707)Gcc>Acc	p.A569T	GPR124_ENST00000412232.2_Missense_Mutation_p.A786T			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	786					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTGCCTCTTCGCCACCATCAT	0.677													11	38					0	0	0	0	A	37696570	G	A	37696570	3	1	25	1	0	0	0	0	1	0	0	0	6687	1087	38	1	2393	1	GPR124	8	37696570	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	9160	37696570	108667452	59	4881											
TRPA1	8989	broad.mit.edu	37	chr8	72967823	72967823	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcctctgacaggtattGatacgcccataacttggaaa	13	9	10	9	1	1	2	0	2	1	0	1	4	1	4	2	3	3	1	2	3	4	5			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr8:72967823G>T	ENST00000262209.4	-	12	1584	c.1377C>A	c.(1375-1377)atC>atA	p.I459I	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	459						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GACAGGTATTGATACGCCCAT	0.403													26	107					3.1745e-13	3.61069e-13	1	0	T	72967823	G	T	72967823	2	4	25	1	0	0	0	0	0	0	0	1	16672	1280	45	2		2	TRPA1	8	72967823	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	35271253	72967823	73396199	60	4882											
DPYS	1807	broad.mit.edu	37	chr8	105441917	105441917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctgctatgggttcaccaTagaccaccttccctggaaag	9	10	10	12	0	1	1	1	0	0	1	2	2	2	2	4	3	1	3	4	3	3	4			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr8:105441917T>C	ENST00000351513.2	-	5	938	c.806A>G	c.(805-807)tAt>tGt	p.Y269C		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	269					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGGTTCACCATAGACCACCTT	0.423													16	87					0	0	0	0	C	105441917	T	C	105441917	3	2	25	1	0	0	0	0	1	0	0	0	4782	1406	49	5	773	5	DPYS	8	105441917	Missense_Mutation	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08	32474094	105441917	40922105	61	4883											
RUSC2	9853	broad.mit.edu	37	chr9	35546716	35546716	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacaagctgactccctgctAttcagcagcctgcactctac	9	9	8	15	0	2	1	1	1	1	0	3	2	3	2	2	1	6	4	2	1	3	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr9:35546716A>G	ENST00000455600.1	+	2	767	c.198A>G	c.(196-198)ctA>ctG	p.L66L	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	66						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACTCCCTGCTATTCAGCAGCC	0.587													11	58					0	0	0	0	G	35546716	A	G	35546716	2	3	25	1	0	0	0	0	0	0	0	1	13836	436	16	5		5	RUSC2	9	35546716	Silent	SNP	A	TCGA-BA-A4II-01A-11D-A25Y-08		35546716	105666715	62	4884											
S1PR3	1903	broad.mit.edu	37	chr9	91616168	91616168	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgggggaacgagacccTgcgggagcattaccagtacg	9	5	17	10	4	0	1	0	0	0	1	0	4	0	3	2	4	6	2	2	4	3	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr9:91616168T>C	ENST00000375846.3	+	1	4748	c.53T>C	c.(52-54)cTg>cCg	p.L18P	S1PR3_ENST00000358157.2_Missense_Mutation_p.L18P			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	18					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						AACGAGACCCTGCGGGAGCAT	0.637											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	131					0	0	0	0	C	91616168	T	C	91616168	3	2	25	1	0	0	0	0	1	0	0	0	13880	1580	55	5	55	5	S1PR3	9	91616168	Missense_Mutation	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08	56069452	91616168	49597263	63	4885											
LHX3	8022	broad.mit.edu	37	chr9	139089573	139089573	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattggccgggcccatttcCgccaaggaaggctcatctgc	7	8	11	15	2	2	0	1	0	1	0	3	1	3	1	5	4	1	1	5	4	2	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr9:139089573C>T	ENST00000371746.3	-	6	925	c.807G>A	c.(805-807)gcG>gcA	p.A269A	LHX3_ENST00000371748.5_Silent_p.A264A	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	264					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GGCCCATTTCCGCCAAGGAAG	0.677													4	16					0	0	0	0	T	139089573	C	T	139089573	2	4	25	1	0	0	0	0	0	0	0	1	8826	639	23	1		1	LHX3	9	139089573	Silent	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	47473405	139089573	2123858	64	4886											
CCDC6	8030	broad.mit.edu	37	chr10	61592365	61592365	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgttgacctgaaattccTgctcttgttcaagatgctgt	7	17	9	8	0	2	3	1	2	1	1	3	3	3	3	2	0	2	5	2	0	2	5			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr10:61592365T>C	ENST00000263102.6	-	3	731	c.500A>G	c.(499-501)cAg>cGg	p.Q167R		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	167	5 X 29 AA tandem repeats.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CTGAAATTCCTGCTCTTGTTC	0.398			T	RET	NSCLC								10	71					0	0	0	0	C	61592365	T	C	61592365	3	2	25	1	0	0	0	0	1	0	0	0	2857	1580	55	5	952	5	CCDC6	10	61592365	Missense_Mutation	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08		61592365	73942382	65	4887											
OR8K5	219453	broad.mit.edu	37	chr11	55927156	55927156	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatgtaggacactaagactAtcagaaaggaggagatcaaa	19	6	10	6	0	2	3	2	0	0	3	2	6	2	5	0	3	0	1	0	3	5	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr11:55927156A>T	ENST00000313447.1	-	1	637	c.638T>A	c.(637-639)aTa>aAa	p.I213K		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CACTAAGACTATCAGAAAGGA	0.378													13	105					0	0	0	0	T	55927156	A	T	55927156	3	4	25	1	0	0	0	0	1	0	0	0	11316	449	16	5	288	5	OR8K5	11	55927156	Missense_Mutation	SNP	A	TCGA-BA-A4II-01A-11D-A25Y-08		55927156	79079360	66	4888											
GLYATL1	92292	broad.mit.edu	37	chr11	58723306	58723306	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacagcatggaaaaatacCgaaggacaggcaacatggca	17	4	10	10	1	0	0	0	0	0	0	0	3	0	2	2	4	4	3	2	4	6	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr11:58723306C>T	ENST00000300079.5	+	7	858	c.808C>T	c.(808-810)Cga>Tga	p.R270*	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Nonsense_Mutation_p.R239*	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	239						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GGAAAAATACCGAAGGACAGG	0.483													9	116					0	0	0	0	T	58723306	C	T	58723306	4	4	25	1	0	0	0	0	0	1	0	0	6531	644	23	1	834	1	GLYATL1	11	58723306	Nonsense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	2796150	58723306	76283210	67	4889											
AHNAK	79026	broad.mit.edu	37	chr11	62300566	62300566	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctctccctttgcacctgaTacagagaacttggggacttt	8	13	8	12	0	1	2	0	1	1	1	3	4	2	3	3	2	3	1	3	2	2	4			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr11:62300566T>C	ENST00000378024.4	-	5	1597	c.1323A>G	c.(1321-1323)gtA>gtG	p.V441V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	441					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGCACCTGATACAGAGAACT	0.537													14	93					0	0	0	0	C	62300566	T	C	62300566	2	2	25	1	0	0	0	0	0	0	0	1	414	1393	49	5		5	AHNAK	11	62300566	Silent	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08	3577260	62300566	72705950	68	4890											
NRXN2	9379	broad.mit.edu	37	chr11	64418041	64418041	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtgccactggttgtcattGactggtttgtctgagttccc	4	17	11	9	0	2	2	1	2	1	0	3	2	3	2	2	2	1	3	2	2	0	5			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr11:64418041G>C	ENST00000265459.6	-	15	3449	c.2988C>G	c.(2986-2988)gtC>gtG	p.V996V	NRXN2_ENST00000377551.1_Silent_p.V996V|NRXN2_ENST00000409571.1_Silent_p.V989V|NRXN2_ENST00000377559.3_Silent_p.V956V|AP001092.4_ENST00000433606.1_RNA	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	996	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGTTGTCATTGACTGGTTTGT	0.577											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	154					0	0	0	0	C	64418041	G	C	64418041	2	2	25	1	0	0	0	0	0	0	0	1	10737	1277	45	2		2	NRXN2	11	64418041	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	2117475	64418041	70588475	69	4891											
RNF169	254225	broad.mit.edu	37	chr11	74546712	74546712	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacccttcagctccctttCatccttggcttccctgcata	5	15	4	17	0	3	0	2	0	1	0	6	0	6	0	4	1	3	3	4	1	2	6			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr11:74546712C>A	ENST00000299563.4	+	6	1077	c.1064C>A	c.(1063-1065)tCa>tAa	p.S355*		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	355							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						AGCTCCCTTTCATCCTTGGCT	0.512													8	100					0.0381472	0.0391996	1	0	A	74546712	C	A	74546712	4	1	25	1	0	0	0	0	0	1	0	0	13545	838	29	2	1086	2	RNF169	11	74546712	Nonsense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	10128671	74546712	60459804	70	4892											
WNT11	7481	broad.mit.edu	37	chr11	75902893	75902893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcatttccagagaggcgCgcagagcctgcggacagggg	9	6	15	11	3	1	2	1	0	0	2	2	4	2	3	2	4	2	1	2	4	0	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr11:75902893C>T	ENST00000322563.3	-	4	729	c.605G>A	c.(604-606)cGc>cAc	p.R202H	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	202					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CAGAGAGGCGCGCAGAGCCTG	0.672													3	42					0	0	0	0	T	75902893	C	T	75902893	3	4	25	1	0	0	0	0	1	0	0	0	17480	768	27	1	467	1	WNT11	11	75902893	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	1356181	75902893	59103623	71	4893											
C11orf87	399947	broad.mit.edu	37	chr11	109294474	109294474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacgggtgcccgcggcccaGgcgcagtaggcagcggcacc	7	2	16	16	5	0	0	0	0	0	0	0	0	0	0	3	5	2	4	3	5	1	1			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr11:109294474G>T	ENST00000327419.6	+	2	518	c.115G>T	c.(115-117)Ggc>Tgc	p.G39C	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	39						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCGCGGCCCAGGCGCAGTAGG	0.657													9	40					2.17888e-05	2.3025e-05	1	0	T	109294474	G	T	109294474	3	4	25	1	0	0	0	0	1	0	0	0	1680	1000	35	4	117	4	C11orf87	11	109294474	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	33391581	109294474	25712042	72	4894											
PDZRN4	29951	broad.mit.edu	37	chr12	41966828	41966828	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagctgcagaagtactccGctcactgtagaccgttcccc	9	8	10	14	2	1	3	1	0	0	3	3	4	3	3	4	0	3	6	4	0	3	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr12:41966828G>T	ENST00000298919.7	+	10	1855	c.1467G>T	c.(1465-1467)ccG>ccT	p.P489P	PDZRN4_ENST00000402685.2_Silent_p.P749P|PDZRN4_ENST00000539469.2_Silent_p.P491P			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	749							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAGTACTCCGCTCACTGTAG	0.493													18	106					9.16793e-09	1.01187e-08	1	0	T	41966828	G	T	41966828	2	4	25	1	0	0	0	0	0	0	0	1	11781	1074	38	3		3	PDZRN4	12	41966828	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08		41966828	91885067	73	4895											
KRT6A	3853	broad.mit.edu	37	chr12	52881537	52881537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcctgctggaggaggaGgtggtggtgtacttgatggt	5	13	17	6	0	1	1	0	1	1	0	2	4	2	4	1	7	2	2	1	7	1	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr12:52881537G>A	ENST00000330722.6	-	9	1730	c.1662C>T	c.(1660-1662)acC>acT	p.T554T		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	554	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGAGGAGGAGGTGGTGGTGT	0.597													17	119					0	0	0	0	A	52881537	G	A	52881537	2	1	25	1	0	0	0	0	0	0	0	1	8532	987	35	4		4	KRT6A	12	52881537	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	10914709	52881537	80970358	74	4896											
PTPRB	5787	broad.mit.edu	37	chr12	70946775	70946775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggaagggagagggtgctgCtgttctggcttcagctcatc	7	11	15	8	0	3	1	2	0	1	1	4	3	3	2	0	4	3	5	0	4	2	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr12:70946775C>T	ENST00000334414.6	-	21	5213	c.5169G>A	c.(5167-5169)caG>caA	p.Q1723Q	PTPRB_ENST00000261266.5_Silent_p.Q1505Q|PTPRB_ENST00000550857.1_Silent_p.Q1415Q|PTPRB_ENST00000550358.1_Silent_p.Q1635Q|PTPRB_ENST00000538708.1_Silent_p.Q1415Q|PTPRB_ENST00000451516.2_Silent_p.Q1415Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1505	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAGGGTGCTGCTGTTCTGGCT	0.453													32	168					0	0	0	0	T	70946775	C	T	70946775	2	4	25	1	0	0	0	0	0	0	0	1	12878	796	28	4		4	PTPRB	12	70946775	Silent	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	18065238	70946775	62905120	75	4897											
TMEM132D	121256	broad.mit.edu	37	chr12	129558470	129558470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgtgcagctctttgcagtCcccagggtccagatcctggc	5	11	12	13	0	1	1	0	0	1	1	4	1	4	1	4	2	3	4	4	2	0	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr12:129558470C>T	ENST00000422113.2	-	9	3576	c.3250G>A	c.(3250-3252)Gac>Aac	p.D1084N	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D622N	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1084						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTTTGCAGTCCCCAGGGTCC	0.512													20	120					0	0	0	0	T	129558470	C	T	129558470	3	4	25	1	0	0	0	0	1	0	0	0	16141	855	30	2	53	2	TMEM132D	12	129558470	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	58611695	129558470	4293425	76	4898											
TMEM132D	121256	broad.mit.edu	37	chr12	130185156	130185156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaagaaggagacgtccGcgttgttgatgtggtaggtc	9	10	16	6	3	1	3	1	1	0	2	3	5	2	4	1	4	0	3	1	4	3	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr12:130185156G>A	ENST00000422113.2	-	2	493	c.167C>T	c.(166-168)gCg>gTg	p.A56V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	56						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGAGACGTCCGCGTTGTTGAT	0.557													10	50					0	0	0	0	A	130185156	G	A	130185156	3	1	25	1	0	0	0	0	1	0	0	0	16141	1087	38	1	3164	1	TMEM132D	12	130185156	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	626686	130185156	3666739	77	4899											
XPO4	64328	broad.mit.edu	37	chr13	21370992	21370992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggggtattcttgtaaacttCcatcaatccaatgcaattgg	11	14	8	8	0	2	0	1	0	1	0	4	0	4	0	2	3	2	3	2	3	6	6			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr13:21370992C>T	ENST00000400602.2	-	17	2562	c.2527G>A	c.(2527-2529)Gaa>Aaa	p.E843K	XPO4_ENST00000255305.6_Missense_Mutation_p.E843K	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	843					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TTGTAAACTTCCATCAATCCA	0.393													12	33					0	0	0	0	T	21370992	C	T	21370992	3	4	25	1	0	0	0	0	1	0	0	0	17542	864	30	2	956	2	XPO4	13	21370992	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08		21370992	93798886	78	4900											
PABPC3	5042	broad.mit.edu	37	chr13	25670474	25670474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccggatctgcagggacttGatcaccagcggctcctccaa	9	8	10	14	2	2	1	1	1	1	0	5	3	5	3	4	3	2	2	4	3	1	1			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr13:25670474G>A	ENST00000281589.3	+	1	175	c.138G>A	c.(136-138)ttG>ttA	p.L46L		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	46	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCAGGGACTTGATCACCAGCG	0.567													9	72					0	0	0	0	A	25670474	G	A	25670474	2	1	25	1	0	0	0	0	0	0	0	1	11436	1281	45	2		2	PABPC3	13	25670474	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	4299482	25670474	89499404	79	4901											
ZIC2	7546	broad.mit.edu	37	chr13	100637931	100637931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacttcaatgaatggtacGtgtgacgggtcggggcctct	8	10	13	10	3	2	2	1	2	1	0	3	2	2	2	2	4	2	1	2	4	4	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr13:100637931G>C	ENST00000376335.3	+	3	1887	c.1594G>C	c.(1594-1596)Gtg>Ctg	p.V532L		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	532					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAATGGTACGTGTGACGGGT	0.706													3	15					0	0	0	0	C	100637931	G	C	100637931	3	2	25	1	0	0	0	0	1	0	0	0	17774	1145	40	3	1604	3	ZIC2	13	100637931	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	74967457	100637931	14531947	80	4902											
ANG	283	broad.mit.edu	37	chr14	21162089	21162089	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccagtaccgagccacagcGgggttcagaaacgttgttgt	9	9	13	10	3	1	1	1	0	0	1	1	2	1	1	3	2	5	4	3	2	2	4			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr14:21162089G>A	ENST00000336811.6	+	2	966	c.366G>A	c.(364-366)gcG>gcA	p.A122A	ANG_ENST00000397990.4_Silent_p.A122A|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000304704.4_Intron|RNASE4_ENST00000555835.1_Intron|RNASE4_ENST00000555597.1_Intron|AL163636.6_ENST00000553909.1_RNA|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000397995.2_Intron	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	122					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		GAGCCACAGCGGGGTTCAGAA	0.517													26	84					0	0	0	0	A	21162089	G	A	21162089	2	1	25	1	0	0	0	0	0	0	0	1	607	1103	39	1		1	ANG	14	21162089	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08		21162089	86187451	81	4903											
TRIP11	9321	broad.mit.edu	37	chr14	92471331	92471331	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaaggctctgaacttttgTttcttgaaaaatatcagagt	13	16	7	5	0	3	3	1	2	2	1	3	3	3	3	0	1	1	2	0	1	5	6			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr14:92471331T>A	ENST00000267622.4	-	11	3362	c.2989A>T	c.(2989-2991)Aca>Tca	p.T997S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	997					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGAACTTTTGTTTCTTGAAAA	0.318			T	PDGFRB	AML								5	108					0	0	0	0	A	92471331	T	A	92471331	3	1	25	1	0	0	0	0	1	0	0	0	16650	1725	60	5	2994	5	TRIP11	14	92471331	Missense_Mutation	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08	71309242	92471331	14878209	82	4904											
ATP10A	57194	broad.mit.edu	37	chr15	25959070	25959070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atacaccagtgcggcctcatCcgggctctccgcctcgtacc	6	8	9	18	4	2	0	1	0	1	0	5	0	3	0	6	2	3	2	6	2	2	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr15:25959070C>T	ENST00000356865.6	-	10	2206	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	699					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCGGCCTCATCCGGGCTCTCC	0.667													17	55					0	0	0	0	T	25959070	C	T	25959070	3	4	25	1	0	0	0	0	1	0	0	0	1120	855	30	2	2452	2	ATP10A	15	25959070	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08		25959070	76572322	83	4905											
DUOX2	50506	broad.mit.edu	37	chr15	45401151	45401151	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggccaggccagtaatCtgaagaggagagaagactag	14	4	15	8	0	1	4	0	1	1	3	1	6	1	5	3	3	0	1	3	3	4	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr15:45401151C>A	ENST00000389039.6	-	12	1620		c.e12-1		DUOX2_ENST00000603300.1_Splice_Site			Q9NRD8	DUOX2_HUMAN	dual oxidase 2						cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGCCAGTAATCTGAAGAGGAG	0.542													10	39					0.000442599	0.000464418	1	0	A	45401151	C	A	45401151	5	1	25	1	0	0	0	0	0	0	1	0	4837	927	32	2	3504	2	DUOX2	15	45401151	Splice_Site	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	19442081	45401151	57130241	84	4906											
GNG13	51764	broad.mit.edu	37	chr16	849043	849046	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															ggtacttgaggctctccaccTctttcttcatctgtggcacg																										TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr16:849043_849046delTCTT	ENST00000248150.4	-	2	133_136	c.32_35delAAGA	c.(31-36)agfs	p.KE11fs		NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein), gamma 13	11					cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity			ovary(1)	1		Hepatocellular(780;0.00335)				GCTCTCCACCTCTTTCTTCATCTG	0.623													9	43	---	---	---	---					-	849046	TCTT	-	849043	7	5	25	1	0	1	0	1	0	0	0	0	6577	1551	54	0	176	0	GNG13	16	849043	Frame_Shift_Del	DEL	TCTT	TCGA-BA-A4II-01A-11D-A25Y-08		849043	89505710	85	4907											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1811306	1811306	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctatctctgtacagaatcGgtacatccactcttcactct	10	13	5	13	1	4	1	1	0	3	1	7	1	5	1	1	1	3	3	1	1	4	4			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr16:1811306G>A	ENST00000250894.4	+	13	1693	c.1536_splice	c.e13+1	p.S512_splice	MAPK8IP3_ENST00000356010.5_Splice_Site_p.S506_splice	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	512					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|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						GTACAGAATCGGTACATCCAC	0.567													17	85					0	0	0	0	A	1811306	G	A	1811306	5	1	25	1	0	0	0	0	0	0	1	0	9355	1130	39	1	1602	1	MAPK8IP3	16	1811306	Splice_Site	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	962263	1811306	88543447	86	4908											
QPRT	23475	broad.mit.edu	37	chr16	29706251	29706251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgaggtccggggccctGcccactgcctgctgctgggg	2	7	17	15	2	0	0	0	0	0	0	1	1	1	0	5	6	4	2	5	6	0	0			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr16:29706251G>A	ENST00000395384.4	+	2	441	c.280G>A	c.(280-282)Gcc>Acc	p.A94T	QPRT_ENST00000562473.1_Intron|QPRT_ENST00000219771.7_Intron|AC009133.19_ENST00000449759.1_Missense_Mutation_p.132_132insL	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	94					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	CCGGGGCCCTGCCCACTGCCT	0.682													8	72					0	0	0	0	A	29706251	G	A	29706251	3	1	25	1	0	0	0	0	1	0	0	0	12958	1319	46	4	286	4	QPRT	16	29706251	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	27894945	29706251	60648502	87	4909											
ABCC11	85320	broad.mit.edu	37	chr16	48232154	48232154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagattttcccattttcCaacaaaatgatctggccaca	13	12	4	12	0	2	2	1	1	1	1	4	2	4	2	3	1	1	0	3	1	3	4			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr16:48232154C>A	ENST00000394747.1	-	15	2464	c.2115G>T	c.(2113-2115)ttG>ttT	p.L705F	ABCC11_ENST00000394748.1_Missense_Mutation_p.L705F|ABCC11_ENST00000356608.2_Missense_Mutation_p.L705F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L705F|ABCC11_ENST00000537808.1_Missense_Mutation_p.L705F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	705	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCCCATTTTCCAACAAAATGA	0.378													15	81					3.27435e-08	3.56116e-08	1	0	A	48232154	C	A	48232154	3	1	25	1	0	0	0	0	1	0	0	0	51	593	21	4	2093	4	ABCC11	16	48232154	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	18525903	48232154	42122599	88	4910											
CHD9	80205	broad.mit.edu	37	chr16	53279747	53279747	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcaggaaatgttgtaatcatCcatatcttataaaaggtagc	15	13	7	6	0	3	0	2	0	1	0	4	1	4	1	1	2	1	3	1	2	7	6			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr16:53279747C>G	ENST00000566029.1	+	15	3648	c.3439C>G	c.(3439-3441)Cca>Gca	p.P1147A	CHD9_ENST00000564845.1_Missense_Mutation_p.P1147A|CHD9_ENST00000447540.1_Missense_Mutation_p.P1147A|CHD9_ENST00000398510.3_Missense_Mutation_p.P1147A			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1147					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTGTAATCATCCATATCTTAT	0.313													9	31					0	0	0	0	G	53279747	C	G	53279747	3	3	25	1	0	0	0	0	1	0	0	0	3361	855	30	2	3493	2	CHD9	16	53279747	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	5047593	53279747	37075006	89	4911											
TP53	7157	broad.mit.edu	37	chr17	7577111	7577111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccggtctctcccaggacagGcacaaacacgcacctcaaag	12	4	9	16	2	2	0	1	0	1	0	4	1	3	1	3	3	1	2	3	3	2	0			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr17:7577111G>T	ENST00000420246.2	-	8	959	c.827C>A	c.(826-828)gCc>gAc	p.A276D	TP53_ENST00000269305.4_Missense_Mutation_p.A276D|TP53_ENST00000455263.2_Missense_Mutation_p.A276D|TP53_ENST00000445888.2_Missense_Mutation_p.A276D|TP53_ENST00000359597.4_Missense_Mutation_p.A276D|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	276	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		A -> D (in sporadic cancers; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.A276V(7)|p.A276D(6)|p.A276G(4)|p.?(2)|p.A276fs*69(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*70(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCCAGGACAGGCACAAACACG	0.547		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	35					2.23348e-06	2.37707e-06	1	0	T	7577111	G	T	7577111	3	4	25	1	0	0	0	0	1	0	0	0	16476	1203	42	4	459	4	TP53	17	7577111	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08		7577111	73618099	90	4912											
BZRAP1	9256	broad.mit.edu	37	chr17	56385249	56385249	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actcggacacctctcttctgGgggcccctccgcccagagcc	5	7	10	19	2	2	1	0	0	2	1	5	2	3	2	6	3	1	0	6	3	0	1			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr17:56385249G>C	ENST00000355701.3	-	23	5655	c.4785C>G	c.(4783-4785)ccC>ccG	p.P1595P	BZRAP1_ENST00000343736.4_Silent_p.P1595P|BZRAP1_ENST00000268893.6_Silent_p.P1535P	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1595						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCTCTTCTGGGGGCCCCTCC	0.622													7	34					0	0	0	0	C	56385249	G	C	56385249	2	2	25	1	0	0	0	0	0	0	0	1	1586	1219	43	4		4	BZRAP1	17	56385249	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	48808138	56385249	24809961	91	4913											
EPB41L3	23136	broad.mit.edu	37	chr18	5394709	5394709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccatcttctggtgtgatCtctgtctctttatggaccac	5	17	7	12	0	5	1	0	1	5	0	8	2	5	2	2	2	0	0	2	2	1	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr18:5394709C>A	ENST00000341928.2	-	22	3577	c.3237G>T	c.(3235-3237)gaG>gaT	p.E1079D	EPB41L3_ENST00000540638.2_Missense_Mutation_p.E857D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E857D|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E1079D|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E384D|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E376D|EPB41L3_ENST00000544123.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1079	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGGTGTGATCTCTGTCTCTT	0.527													17	103					4.75885e-15	5.49665e-15	1	0	A	5394709	C	A	5394709	3	1	25	1	0	0	0	0	1	0	0	0	5192	912	32	2	30	2	EPB41L3	18	5394709	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08		5394709	72682539	92	4914											
GAMT	2593	broad.mit.edu	37	chr19	1399013	1399013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccccccggcttcagcaggcGaaaggcgtggttctgtggaa	7	7	15	12	3	2	0	1	0	1	0	2	2	2	1	3	5	1	3	3	5	2	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr19:1399013G>A	ENST00000447102.3	-	5	565	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	GAMT_ENST00000252288.2_Missense_Mutation_p.R158C	NM_138924.2	NP_620279.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	158					creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|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)	Creatine(DB00148)	TTCAGCAGGCGAAAGGCGTGG	0.627													7	50					0	0	0	0	A	1399013	G	A	1399013	3	1	25	1	0	0	0	0	1	0	0	0	6280	1058	37	1	486	1	GAMT	19	1399013	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08		1399013	57729970	93	4915											
EEF2	1938	broad.mit.edu	37	chr19	3977871	3977871	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtccttgatctcgttgagGtactgcacacccttggtgat	6	14	10	11	1	1	3	0	3	1	0	3	3	2	3	2	2	2	3	2	2	1	4			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr19:3977871G>A	ENST00000309311.6	-	12	2101	c.2013C>T	c.(2011-2013)taC>taT	p.Y671Y		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	671						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCGTTGAGGTACTGCACAC	0.627													15	93					0	0	0	0	A	3977871	G	A	3977871	2	1	25	1	0	0	0	0	0	0	0	1	4965	1256	44	4		4	EEF2	19	3977871	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	2578858	3977871	55151112	94	4916											
ILF3	3609	broad.mit.edu	37	chr19	10793234	10793234	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttacaggacatgggcttgCcgacgggtgctgaaggcagg	8	8	17	8	2	0	1	0	1	0	0	0	3	0	2	1	5	3	4	1	5	2	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr19:10793234C>G	ENST00000449870.1	+	13	1719	c.1402C>G	c.(1402-1404)Ccg>Gcg	p.P468A	ILF3_ENST00000590261.1_Missense_Mutation_p.P468A|ILF3_ENST00000589998.1_Missense_Mutation_p.P468A|ILF3_ENST00000407004.3_Missense_Mutation_p.P468A|ILF3_ENST00000420083.1_Missense_Mutation_p.P468A|ILF3_ENST00000592763.1_Missense_Mutation_p.P468A|ILF3_ENST00000588657.1_Missense_Mutation_p.P468A|ILF3_ENST00000250241.8_Missense_Mutation_p.P468A|ILF3_ENST00000318511.3_Missense_Mutation_p.P468A	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	468					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CATGGGCTTGCCGACGGGTGC	0.652													4	53					0	0	0	0	G	10793234	C	G	10793234	3	3	25	1	0	0	0	0	1	0	0	0	7765	739	26	4	1448	4	ILF3	19	10793234	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	6815363	10793234	48335749	95	4917											
SLC25A42	284439	broad.mit.edu	37	chr19	19218754	19218754	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctcgagagaagaggggctGaagactctctaccatggatt	12	9	12	8	1	2	4	0	1	2	3	4	7	2	5	1	3	1	1	1	3	3	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr19:19218754G>A	ENST00000318596.7	+	7	700	c.549G>A	c.(547-549)ctG>ctA	p.L183L	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	183					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			AAGAGGGGCTGAAGACTCTCT	0.567													23	100					0	0	0	0	A	19218754	G	A	19218754	2	1	25	1	0	0	0	0	0	0	0	1	14595	1277	45	2		2	SLC25A42	19	19218754	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	8425520	19218754	39910229	96	4918											
ZNF90	7643	broad.mit.edu	37	chr19	20229100	20229100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtattcctctacccttactgCacataagagaattcatactg	12	13	5	11	0	2	1	1	0	1	1	3	2	3	1	2	0	4	2	2	0	6	7			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr19:20229100C>A	ENST00000418063.2	+	4	849	c.737C>A	c.(736-738)gCa>gAa	p.A246E	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	246						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACCCTTACTGCACATAAGAGA	0.368													3	19					1	1	1	0	A	20229100	C	A	20229100	3	1	25	1	0	0	0	0	1	0	0	0	18292	710	25	4	751	4	ZNF90	19	20229100	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	1010346	20229100	38899883	97	4919											
ZNF43	7594	broad.mit.edu	37	chr19	21991630	21991630	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacttaaaagctttgccAcattcttcacatttgtaggg	11	13	7	10	0	2	0	1	0	1	0	2	1	2	0	2	1	2	2	2	1	3	6			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr19:21991630A>T	ENST00000594012.1	-	7	1705	c.1191T>A	c.(1189-1191)tgT>tgA	p.C397*	ZNF43_ENST00000595461.1_Nonsense_Mutation_p.C397*|ZNF43_ENST00000354959.4_Nonsense_Mutation_p.C403*|ZNF43_ENST00000598381.1_Nonsense_Mutation_p.C397*	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AAGCTTTGCCACATTCTTCAC	0.363													9	70					0	0	0	0	T	21991630	A	T	21991630	4	4	25	1	0	0	0	0	0	1	0	0	17998	157	6	5	1224	5	ZNF43	19	21991630	Nonsense_Mutation	SNP	A	TCGA-BA-A4II-01A-11D-A25Y-08	1762530	21991630	37137353	98	4920											
ZNF30	90075	broad.mit.edu	37	chr19	35422786	35422786	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcacggatcagtgacatttGaggatgtggccatagccttc	10	11	11	9	1	2	2	2	2	0	0	3	4	2	4	2	3	1	0	2	3	1	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr19:35422786G>C	ENST00000439785.1	+	3	493	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	ZNF30_ENST00000303586.7_Missense_Mutation_p.E17Q|ZNF30_ENST00000601540.1_3'UTR|ZNF30_ENST00000601957.1_Missense_Mutation_p.E17Q|ZNF30_ENST00000601142.1_Missense_Mutation_p.E17Q|ZNF30_ENST00000426813.2_5'UTR	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AGTGACATTTGAGGATGTGGC	0.453													7	22					0	0	0	0	C	35422786	G	C	35422786	3	2	25	1	0	0	0	0	1	0	0	0	17925	1291	45	2	55	2	ZNF30	19	35422786	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	13431156	35422786	23706197	99	4921											
ZNF585A	199704	broad.mit.edu	37	chr19	37642616	37642616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttattcaaattggacctgtCagtaaaggccttcccacact	11	13	6	11	0	2	0	2	0	0	0	3	1	3	1	3	2	0	1	3	2	4	6			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr19:37642616C>T	ENST00000356958.4	-	5	2443	c.2185G>A	c.(2185-2187)Gac>Aac	p.D729N	ZNF585A_ENST00000392157.2_Missense_Mutation_p.D674N|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.D674N|ZNF585A_ENST00000355533.2_Missense_Mutation_p.D366N			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGGACCTGTCAGTAAAGGCC	0.458													18	110					0	0	0	0	T	37642616	C	T	37642616	3	4	25	1	0	0	0	0	1	0	0	0	18112	826	29	2	128	2	ZNF585A	19	37642616	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	2219830	37642616	21486367	100	4922											
DMPK	1760	broad.mit.edu	37	chr19	46281006	46281006	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatagaacatttcataggcGaatacacccagcgcccacca	14	6	6	15	2	1	1	1	0	0	1	1	2	1	1	4	1	3	0	4	1	5	4			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr19:46281006G>A	ENST00000600757.1	-	6	1518	c.831C>T	c.(829-831)ttC>ttT	p.F277F	DMPK_ENST00000343373.4_Silent_p.F277F|DMPK_ENST00000354227.5_Silent_p.F267F|DMPK_ENST00000458663.2_Silent_p.F267F|DMPK_ENST00000291270.4_Silent_p.F267F|DMPK_ENST00000447742.2_Silent_p.F267F			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	277	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TTTCATAGGCGAATACACCCA	0.632													26	141					0	0	0	0	A	46281006	G	A	46281006	2	1	25	1	0	0	0	0	0	0	0	1	4621	1049	37	1		1	DMPK	19	46281006	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	8638390	46281006	12847977	101	4923											
PPP5C	5536	broad.mit.edu	37	chr19	46891878	46891878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgtcaccaaggccttcttGgaagagaacaacctggacta	13	7	10	11	1	2	1	1	0	1	1	2	5	2	3	3	3	2	0	3	3	5	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr19:46891878G>T	ENST00000012443.4	+	11	1348	c.1245G>T	c.(1243-1245)ttG>ttT	p.L415F	PPP5C_ENST00000391919.1_Missense_Mutation_p.L287F	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	415	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		AGGCCTTCTTGGAAGAGAACA	0.612													11	75					1.58986e-06	1.71659e-06	1	0	T	46891878	G	T	46891878	3	4	25	1	0	0	0	0	1	0	0	0	12482	1339	47	4	1287	4	PPP5C	19	46891878	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	610872	46891878	12237105	102	4924											
PRR12	57479	broad.mit.edu	37	chr19	50099945	50099945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccatggcctccttctggagGccgggggccctgacctccca	4	7	12	18	1	1	1	0	1	1	0	3	2	3	2	7	5	0	0	7	5	0	1			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr19:50099945G>A	ENST00000418929.2	+	4	2365	c.2353G>A	c.(2353-2355)Gcc>Acc	p.A785T		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	480							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)		CCTTCTGGAGGCCGGGGGCCC	0.711													3	16					0	0	0	0	A	50099945	G	A	50099945	3	1	25	1	0	0	0	0	1	0	0	0	12664	1203	42	4	2367	4	PRR12	19	50099945	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	3208067	50099945	9029038	103	4925											
ZNF813	126017	broad.mit.edu	37	chr19	53994161	53994161	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagagtggcaaagcctttaaTtatagctcactcttaaggaa	14	11	9	7	0	2	1	1	0	1	1	2	3	2	2	1	2	2	2	1	2	6	5			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr19:53994161T>A	ENST00000396403.4	+	4	803	c.675T>A	c.(673-675)aaT>aaA	p.N225K	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAGCCTTTAATTATAGCTCAC	0.363													18	143					0	0	0	0	A	53994161	T	A	53994161	3	1	25	1	0	0	0	0	1	0	0	0	18268	1490	52	5	685	5	ZNF813	19	53994161	Missense_Mutation	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08	3894216	53994161	5134822	104	4926											
MBOAT7	79143	broad.mit.edu	37	chr19	54678110	54678111	+	Frame_Shift_Ins	INS	-	-	A																															gccagtaggcgctcagcagcINSatggtccaggcgctcctgag																										TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr19:54678110_54678111insA	ENST00000245615.1	-	8	1526_1527	c.1046_1047insT	c.(1045-1047)actfs	p.T349fs	MBOAT7_ENST00000431666.2_Frame_Shift_Ins_p.T276fs|MBOAT7_ENST00000338624.6_Frame_Shift_Ins_p.T276fs	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	349					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCTCAGCAGCATGGTCCAGGC	0.688													9	51	---	---	---	---					A	54678111	-	A	54678110	7	5	25	1	0	1	1	0	0	0	0	0	9427	710	25	0	375	0	MBOAT7	19	54678110	Frame_Shift_Ins	INS	-	TCGA-BA-A4II-01A-11D-A25Y-08	683949	54678110	4450873	105	4927											
ZNF154	7710	broad.mit.edu	37	chr19	58213858	58213858	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctttctgtagtgagggtTctctgctgctgaacaagtgt	7	15	11	8	0	3	2	0	2	3	0	4	2	3	2	0	1	3	4	0	1	3	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr19:58213858T>A	ENST00000512439.2	-	3	655	c.459A>T	c.(457-459)agA>agT	p.R153S	AC003006.7_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.R153S|AC003006.7_ENST00000599221.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	153						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TAGTGAGGGTTCTCTGCTGCT	0.448													70	277					0	0	0	0	A	58213858	T	A	58213858	3	1	25	1	0	0	0	0	1	0	0	0	17830	1780	62	5	858	5	ZNF154	19	58213858	Missense_Mutation	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08	3535748	58213858	915125	106	4928											
SLC4A11	83959	broad.mit.edu	37	chr20	3211669	3211669	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaacagggtggtggtgaTgtatttgcccacagccttgt	8	11	15	7	0	0	1	0	1	0	0	0	3	0	2	2	4	3	1	2	4	2	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr20:3211669T>C	ENST00000380059.3	-	10	1308	c.1207A>G	c.(1207-1209)Atc>Gtc	p.I403V	SLC4A11_ENST00000380056.3_Missense_Mutation_p.I376V|SLC4A11_ENST00000539553.1_Missense_Mutation_p.I360V|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	376	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTGGTGGTGATGTATTTGCCC	0.577													13	99					0	0	0	0	C	3211669	T	C	3211669	3	2	25	1	0	0	0	0	1	0	0	0	14740	1464	51	5	1593	5	SLC4A11	20	3211669	Missense_Mutation	SNP	T	TCGA-BA-A4II-01A-11D-A25Y-08		3211669	59813851	107	4929											
ZNF341	84905	broad.mit.edu	37	chr20	32379114	32379114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggggctgggctggtgcccGaggctgtccccggcaagccg	4	5	18	14	3	0	0	0	0	0	0	1	1	1	0	4	6	2	4	4	6	1	0			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr20:32379114G>A	ENST00000375200.1	+	15	2721	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K	ZNF341_ENST00000342427.2_Missense_Mutation_p.E779K|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCTGGTGCCCGAGGCTGTCCC	0.706													7	41					0	0	0	0	A	32379114	G	A	32379114	3	1	25	1	0	0	0	0	1	0	0	0	17952	1059	37	1	2393	1	ZNF341	20	32379114	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	29167445	32379114	30646406	108	4930											
EEF1A2	1917	broad.mit.edu	37	chr20	62121936	62121936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttcttcacattgaagcCgacgttgtcgccgggcagag	8	9	12	12	5	2	2	1	1	1	1	3	3	2	2	2	1	1	3	2	1	1	4			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr20:62121936C>T	ENST00000217182.3	-	6	1090	c.925G>A	c.(925-927)Ggc>Agc	p.G309S	EEF1A2_ENST00000298049.7_Missense_Mutation_p.G309S	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	309						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			ACATTGAAGCCGACGTTGTCG	0.602													19	129					0	0	0	0	T	62121936	C	T	62121936	3	4	25	1	0	0	0	0	1	0	0	0	4960	652	23	1	478	1	EEF1A2	20	62121936	Missense_Mutation	SNP	C	TCGA-BA-A4II-01A-11D-A25Y-08	29742822	62121936	903584	109	4931											
ZNF280B	140883	broad.mit.edu	37	chr22	22843036	22843036	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaaaaggtgctccattctGaacatggcttaatgaggtat	12	12	11	6	0	1	2	0	2	1	0	2	3	2	3	1	4	2	3	1	4	5	3			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr22:22843036G>C	ENST00000360412.2	-	4	1463	c.688C>G	c.(688-690)Cag>Gag	p.Q230E	ZNF280B_ENST00000406426.1_Missense_Mutation_p.Q230E	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GCTCCATTCTGAACATGGCTT	0.368													56	130					0	0	0	0	C	22843036	G	C	22843036	3	2	25	1	0	0	0	0	1	0	0	0	17910	1299	45	2	947	2	ZNF280B	22	22843036	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08		22843036	28461530	110	4932											
CHEK2	11200	broad.mit.edu	37	chr22	29130641	29130641	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggactgggtaacgctGccatggggctgtgaacaggc	7	8	16	10	1	0	1	0	1	0	0	0	2	0	2	2	5	3	3	2	5	2	2			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chr22:29130641G>T	ENST00000382580.2	-	2	144	c.69C>A	c.(67-69)ggC>ggA	p.G23G	CHEK2_ENST00000382565.1_Silent_p.G23G|CHEK2_ENST00000402731.1_Silent_p.G23G|CHEK2_ENST00000348295.3_Silent_p.G23G|CHEK2_ENST00000404276.1_Silent_p.G23G|CHEK2_ENST00000382578.1_Silent_p.G23G|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000328354.6_Silent_p.G23G|CHEK2_ENST00000382566.1_Silent_p.G23G|CHEK2_ENST00000405598.1_Silent_p.G23G|CHEK2_ENST00000403642.1_Silent_p.G23G	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	23					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GGGTAACGCTGCCATGGGGCT	0.562			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					32	79					8.4185e-14	9.6489e-14	1	0	T	29130641	G	T	29130641	2	4	25	1	0	0	0	0	0	0	0	1	3364	1306	46	4		4	CHEK2	22	29130641	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	6287605	29130641	22173925	111	4933											
MED14	9282	broad.mit.edu	37	chrX	40541116	40541116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacttactgagcttcccttGgtggttccataacacaagat	11	12	8	10	0	0	3	0	1	0	2	2	3	2	3	2	2	3	2	2	2	3	5			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chrX:40541116G>A	ENST00000324817.1	-	19	2563	c.2445C>T	c.(2443-2445)acC>acT	p.T815T	MED14_ENST00000496531.1_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	815	Interaction with SREBF1.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCTTCCCTTGGTGGTTCCAT	0.299													10	30					0	0	0	0	A	40541116	G	A	40541116	2	1	25	1	0	0	0	0	0	0	0	1	9501	1335	47	4		4	MED14	23	40541116	Silent	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08		40541116	114729444	112	4934											
MTMR8	55613	broad.mit.edu	37	chrX	63488489	63488489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcccccaagatgcccatGtccccagagaaacccctggc	9	6	9	17	0	0	2	0	0	0	2	2	3	2	2	7	1	2	0	7	1	2	0			TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chrX:63488489G>T	ENST00000374852.3	-	14	2110	c.2043C>A	c.(2041-2043)gaC>gaA	p.D681E	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	681						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGATGCCCATGTCCCCAGAGA	0.527													6	33					0.0215528	0.0223011	1	0	T	63488489	G	T	63488489	3	4	25	1	0	0	0	0	1	0	0	0	10019	1368	48	4	75	4	MTMR8	23	63488489	Missense_Mutation	SNP	G	TCGA-BA-A4II-01A-11D-A25Y-08	22947373	63488489	91782071	113	4935											
NONO	4841	broad.mit.edu	37	chrX	70511784	70511787	+	Frame_Shift_Del	DEL	TTCA	TTCA	-																															atggaaaggcaggcgaagtcTtcattcataaggataaagga																										TCGA-BA-A4II-01A-11D-A25Y-08	TCGA-BA-A4II-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	D2746527-5F39-47A2-BA05-4FF608616B57	887DEF3D-1332-4DDB-B05B-A79450F9E4F5	g.chrX:70511784_70511787delTTCA	ENST00000535149.1	+	2	686_689	c.43_46delTTCA	c.(43-48)ttfs	p.FI15fs	NONO_ENST00000373856.3_Frame_Shift_Del_p.FI104fs|NONO_ENST00000276079.8_Frame_Shift_Del_p.FI104fs|NONO_ENST00000373841.1_Frame_Shift_Del_p.FI104fs	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	104					DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGGCGAAGTCTTCATTCATAAGGA	0.441			T	TFE3	papillary renal cancer								27	80	---	---	---	---					-	70511787	TTCA	-	70511784	7	5	25	1	0	1	0	1	0	0	0	0	10604	1609	56	0	316	0	NONO	23	70511784	Frame_Shift_Del	DEL	TTCA	TCGA-BA-A4II-01A-11D-A25Y-08	7023295	70511784	84758776	114	4936											
PRAMEF11	440560	broad.mit.edu	37	chr1	12888484	12888484	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccaggcctgcaccatcaGcttcagggcctcacagcgtc	7	6	12	16	1	3	0	3	0	0	0	4	0	3	0	4	3	3	2	4	3	0	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:12888484G>C	ENST00000535591.1	-	2	235	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	14										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGCACCATCAGCTTCAGGGCC	0.622													26	52					0	0	0	0	C	12888484	G	C	12888484	3	2	26	1	0	0	0	0	1	0	0	0	12503	962	34	4	1282	4	PRAMEF11	1	12888484	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08		12888484	236362137	1	4937											
RCC2	55920	broad.mit.edu	37	chr1	17747236	17747236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccatattcagggcacccaAaggaatagaggtttcctttg	12	10	10	9	0	1	1	1	0	0	1	2	3	2	2	3	3	0	2	3	3	4	5			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:17747236A>G	ENST00000375436.4	-	7	1020	c.833T>C	c.(832-834)tTt>tCt	p.F278S	RCC2_ENST00000375433.3_Missense_Mutation_p.F278S	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	278					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGGGCACCCAAAGGAATAGAG	0.413													3	58					0	0	0	0	G	17747236	A	G	17747236	3	3	26	1	0	0	0	0	1	0	0	0	13256	14	1	5	763	5	RCC2	1	17747236	Missense_Mutation	SNP	A	TCGA-BA-A6D8-01A-31D-A31L-08	4858752	17747236	231503385	2	4938											
WNT4	54361	broad.mit.edu	37	chr1	22447766	22447767	+	Frame_Shift_Ins	INS	-	-	TC																															ctggacgaggcccccttgctINStctctcccgcacatccacaa																										TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:22447766_22447767insTC	ENST00000290167.6	-	4	568_569	c.525_526insGA	c.(523-528)aggcaafs	p.Q176fs	WNT4_ENST00000542383.1_Frame_Shift_Ins_p.Q121fs	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	176					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCCCCCTTGCTTCTCTCCCGCA	0.609													7	47	---	---	---	---					TC	22447767	-	TC	22447766	7	5	26	1	0	1	1	0	0	0	0	0	17486	1609	56	0	537	0	WNT4	1	22447766	Frame_Shift_Ins	INS	-	TCGA-BA-A6D8-01A-31D-A31L-08	4700530	22447766	226802855	3	4939											
FAAH	2166	broad.mit.edu	37	chr1	46877317	46877317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggaactgcagcacgaGatcgaggtgaggccagagcc	10	5	15	11	2	1	3	0	1	1	2	2	6	1	4	2	3	4	2	2	3	1	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:46877317G>T	ENST00000243167.8	+	12	1434	c.1350G>T	c.(1348-1350)gaG>gaT	p.E450D		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	450					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TGCAGCACGAGATCGAGGTGA	0.617													4	28					0.150653	0.150653	1	0	T	46877317	G	T	46877317	3	4	26	1	0	0	0	0	1	0	0	0	5394	933	33	2	1396	2	FAAH	1	46877317	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	24429551	46877317	202373304	4	4940											
USP33	23032	broad.mit.edu	37	chr1	78180383	78180383	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaagccactgtcgagaaaTataaaactgaaggaggcttg	16	9	10	6	1	0	2	0	1	0	1	1	4	0	3	1	2	2	1	1	2	6	4			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:78180383T>C	ENST00000370793.1	-	20	2570	c.2224A>G	c.(2224-2226)Att>Gtt	p.I742V	USP33_ENST00000357428.1_Missense_Mutation_p.I742V|USP33_ENST00000370794.3_Missense_Mutation_p.I711V|USP33_ENST00000370792.3_Missense_Mutation_p.I734V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	742	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TGTCGAGAAATATAAAACTGA	0.373													5	55					0	0	0	0	C	78180383	T	C	78180383	3	2	26	1	0	0	0	0	1	0	0	0	17160	1406	49	5	640	5	USP33	1	78180383	Missense_Mutation	SNP	T	TCGA-BA-A6D8-01A-31D-A31L-08	31303066	78180383	171070238	5	4941											
OR10J5	127385	broad.mit.edu	37	chr1	159505300	159505300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accactgtgccacagaacggCaaattgaacatggctgtcac	13	7	9	12	1	1	2	1	1	0	1	1	2	1	2	2	2	3	2	2	2	3	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:159505300C>A	ENST00000334857.2	-	1	542	c.498G>T	c.(496-498)ttG>ttT	p.L166F		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CACAGAACGGCAAATTGAACA	0.443													11	65					1.58986e-06	1.6931e-06	1	0	A	159505300	C	A	159505300	3	1	26	1	0	0	0	0	1	0	0	0	10983	709	25	4	433	4	OR10J5	1	159505300	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	81324917	159505300	89745321	6	4942											
SLAMF6	114836	broad.mit.edu	37	chr1	160461016	160461016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggaaatcctggggtcccagGagacagtgaggtttggctga	9	9	16	7	0	0	3	0	2	0	1	2	5	2	4	2	6	0	2	2	6	1	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:160461016G>A	ENST00000368059.3	-	3	614	c.545C>T	c.(544-546)tCc>tTc	p.S182F	SLAMF6_ENST00000368057.3_Missense_Mutation_p.S182F|SLAMF6_ENST00000368055.1_Missense_Mutation_p.S71F	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	182	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GGGGTCCCAGGAGACAGTGAG	0.493													14	71					0	0	0	0	A	160461016	G	A	160461016	3	1	26	1	0	0	0	0	1	0	0	0	14456	1174	41	2	477	2	SLAMF6	1	160461016	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	955716	160461016	88789605	7	4943											
USH2A	7399	broad.mit.edu	37	chr1	215955496	215955496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgatgttccccgaaaaCgttcaattccatttcgaaga	12	12	7	10	3	2	2	2	1	0	1	5	4	4	2	3	0	1	2	3	0	4	4			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:215955496C>A	ENST00000366943.2	-	54	11014	c.10628G>T	c.(10627-10629)cGt>cTt	p.R3543L	USH2A_ENST00000307340.3_Missense_Mutation_p.R3543L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3543	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R3543H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCCCGAAAACGTTCAATTCC	0.378										HNSCC(13;0.011)			19	52					3.32936e-07	3.61599e-07	1	0	A	215955496	C	A	215955496	3	1	26	1	0	0	0	0	1	0	0	0	17132	536	19	3	5056	3	USH2A	1	215955496	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	55494480	215955496	33295125	8	4944											
USH2A	7399	broad.mit.edu	37	chr1	216420274	216420274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattgcactgtctcccttcaAcattgggcttgcagatgcac	8	13	8	12	0	2	1	1	0	1	1	3	1	2	1	1	1	4	4	1	1	2	5			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:216420274A>G	ENST00000366943.2	-	13	2848	c.2462T>C	c.(2461-2463)gTt>gCt	p.V821A	USH2A_ENST00000307340.3_Missense_Mutation_p.V821A|USH2A_ENST00000366942.3_Missense_Mutation_p.V821A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	821	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTCCCTTCAACATTGGGCTT	0.478										HNSCC(13;0.011)			17	46					0	0	0	0	G	216420274	A	G	216420274	3	3	26	1	0	0	0	0	1	0	0	0	17132	43	2	5	13400	5	USH2A	1	216420274	Missense_Mutation	SNP	A	TCGA-BA-A6D8-01A-31D-A31L-08	464778	216420274	32830347	9	4945											
URB2	9816	broad.mit.edu	37	chr1	229771720	229771720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcccaggaggcgcttattCgtactgtcttccagacttat	9	12	9	11	2	1	1	0	0	1	1	3	2	2	2	2	2	2	2	2	2	4	5	rs115399585	by1000genomes	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:229771720C>T	ENST00000258243.2	+	4	1496	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	454						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGCGCTTATTCGTACTGTCTT	0.522													50	106					0	0	0	0	T	229771720	C	T	229771720	3	4	26	1	0	0	0	0	1	0	0	0	17121	884	31	1	1370	1	URB2	1	229771720	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	13351446	229771720	19478901	10	4946											
C2orf71	388939	broad.mit.edu	37	chr2	29296729	29296729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtactactttcctcactCtcatctccagaaaagtctgc	9	13	6	13	0	4	1	2	0	3	1	7	1	5	1	2	1	3	1	2	1	4	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:29296729C>A	ENST00000331664.5	-	1	398	c.399G>T	c.(397-399)gaG>gaT	p.E133D		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	133					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTTCCTCACTCTCATCTCCAG	0.478													34	50					3.33393e-15	3.82353e-15	1	0	A	29296729	C	A	29296729	3	1	26	1	0	0	0	0	1	0	0	0	2211	912	32	2	3475	2	C2orf71	2	29296729	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08		29296729	213902644	11	4947											
DYNC2LI1	51626	broad.mit.edu	37	chr2	44028815	44028815	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagaataaaccgctgtttAtcacagcaggattggattct	13	12	8	8	1	3	1	2	0	1	1	3	3	3	3	1	2	2	3	1	2	4	5			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:44028815A>G	ENST00000260605.8	+	10	869	c.769A>G	c.(769-771)Atc>Gtc	p.I257V	DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.I131V|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.I258V	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	257						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACCGCTGTTTATCACAGCAGG	0.348													4	18					0	0	0	0	G	44028815	A	G	44028815	3	3	26	1	0	0	0	0	1	0	0	0	4883	449	16	5	906	5	DYNC2LI1	2	44028815	Missense_Mutation	SNP	A	TCGA-BA-A6D8-01A-31D-A31L-08	14732086	44028815	199170558	12	4948											
EXOC6B	23233	broad.mit.edu	37	chr2	72968448	72968448	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttactttgagtttctgggcTtctcctctcactttcagcag	5	17	7	12	0	4	1	2	1	3	0	6	1	4	1	1	1	2	3	1	1	1	5			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:72968448T>C	ENST00000272427.6	-	2	394	c.264A>G	c.(262-264)gaA>gaG	p.E88E	EXOC6B_ENST00000410104.1_Silent_p.E88E	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	88					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GTTTCTGGGCTTCTCCTCTCA	0.403													58	77					0	0	0	0	C	72968448	T	C	72968448	2	2	26	1	0	0	0	0	0	0	0	1	5346	1606	56	5		5	EXOC6B	2	72968448	Silent	SNP	T	TCGA-BA-A6D8-01A-31D-A31L-08	28939633	72968448	170230925	13	4949											
CNTNAP5	129684	broad.mit.edu	37	chr2	125671862	125671862	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaaacgggaatatttcatCtgagaaactgcagggttcct	12	12	10	7	1	2	1	1	1	1	1	3	3	3	2	1	2	3	3	1	2	5	4			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:125671862C>G	ENST00000431078.1	+	24	4282	c.3918C>G	c.(3916-3918)atC>atG	p.I1306M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1306					cell adhesion|signal transduction	integral to membrane	receptor binding	p.I1306I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATATTTCATCTGAGAAACTG	0.378													15	20					0	0	0	0	G	125671862	C	G	125671862	3	3	26	1	0	0	0	0	1	0	0	0	3680	903	32	2	4012	2	CNTNAP5	2	125671862	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	52703414	125671862	117527511	14	4950											
BAZ2B	29994	broad.mit.edu	37	chr2	160303315	160303315	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatctttgattttgtcaactCtagcatccaaaggctggttt	9	17	7	8	0	3	1	1	1	2	0	4	1	4	1	1	2	2	3	1	2	4	6			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:160303315C>G	ENST00000392783.2	-	6	1169	c.674G>C	c.(673-675)aGa>aCa	p.R225T	BAZ2B_ENST00000392782.1_Missense_Mutation_p.R223T|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R225T|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R223T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	225	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTGTCAACTCTAGCATCCAA	0.358													12	86					0	0	0	0	G	160303315	C	G	160303315	3	3	26	1	0	0	0	0	1	0	0	0	1336	913	32	2	5960	2	BAZ2B	2	160303315	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	34631453	160303315	82896058	15	4951											
FIGN	55137	broad.mit.edu	37	chr2	164467569	164467569	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctgtacccagaccccAcagcagtctgaggaggatag	11	5	13	12	0	1	2	0	1	1	1	1	4	1	4	3	3	2	3	3	3	2	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:164467569A>G	ENST00000333129.3	-	3	1087	c.773T>C	c.(772-774)gTg>gCg	p.V258A	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	258	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCCAGACCCCACAGCAGTCTG	0.622													21	45					0	0	0	0	G	164467569	A	G	164467569	3	3	26	1	0	0	0	0	1	0	0	0	5936	159	6	5	1510	5	FIGN	2	164467569	Missense_Mutation	SNP	A	TCGA-BA-A6D8-01A-31D-A31L-08	4164254	164467569	78731804	16	4952											
TTN	7273	broad.mit.edu	37	chr2	179587962	179587962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttccaagtgacagaaattgGaagtgttccagtgtaggtgc	11	12	12	6	0	0	2	0	1	0	1	2	3	2	3	2	2	1	2	2	2	4	4			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:179587962G>T	ENST00000589042.1	-	75	21996	c.21772C>A	c.(21772-21774)Cca>Aca	p.P7258T	TTN_ENST00000342992.6_Missense_Mutation_p.P6014T|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P6941T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6941	Ig-like 54.						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)			ACAGAAATTGGAAGTGTTCCA	0.373													14	26					6.72482e-11	7.55391e-11	1	0	T	179587962	G	T	179587962	3	4	26	1	0	0	0	0	1	0	0	0	16831	1174	41	2	82909	2	TTN	2	179587962	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	15120393	179587962	63611411	17	4953											
TTN	7273	broad.mit.edu	37	chr2	179590629	179590629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtttttggatgcaatcttgTatttcttgctgcttctgagt	6	20	9	6	0	3	1	0	1	3	0	3	2	3	2	0	1	3	5	0	1	2	7			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:179590629T>C	ENST00000589042.1	-	70	20644	c.20420A>G	c.(20419-20421)tAc>tGc	p.Y6807C	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y5563C|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Y6490C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6490	Ig-like 49.						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)			TGCAATCTTGTATTTCTTGCT	0.428													12	18					0	0	0	0	C	179590629	T	C	179590629	3	2	26	1	0	0	0	0	1	0	0	0	16831	1638	57	5	84281	5	TTN	2	179590629	Missense_Mutation	SNP	T	TCGA-BA-A6D8-01A-31D-A31L-08	2667	179590629	63608744	18	4954											
TTN	7273	broad.mit.edu	37	chr2	179615135	179615135	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaagagttaatattgaatAgttttccaacgaatgaatga	17	13	8	3	1	0	5	0	4	0	1	1	6	1	5	1	0	1	2	1	0	8	6			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:179615135A>G	ENST00000360870.5	-	46	12214	c.11992T>C	c.(11992-11994)Tat>Cat	p.Y3998H	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9814							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)			AATATTGAATAGTTTTCCAAC	0.338													22	36					0	0	0	0	G	179615135	A	G	179615135	3	3	26	1	0	0	0	0	1	0	0	0	16831	420	15	5	98305	5	TTN	2	179615135	Missense_Mutation	SNP	A	TCGA-BA-A6D8-01A-31D-A31L-08	24506	179615135	63584238	19	4955											
DNAH7	56171	broad.mit.edu	37	chr2	196825057	196825057	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaataatatggtcatccaAcaacatctgaatttcatcaa	16	14	3	8	0	4	1	3	1	1	0	5	1	5	1	1	1	2	0	1	1	7	5			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:196825057A>G	ENST00000312428.6	-	18	2918	c.2818T>C	c.(2818-2820)Ttg>Ctg	p.L940L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	940	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGGTCATCCAACAACATCTGA	0.338													29	55					0	0	0	0	G	196825057	A	G	196825057	2	3	26	1	0	0	0	0	0	0	0	1	4642	40	2	5		5	DNAH7	2	196825057	Silent	SNP	A	TCGA-BA-A6D8-01A-31D-A31L-08	17209922	196825057	46374316	20	4956											
THUMPD3	25917	broad.mit.edu	37	chr3	9412933	9412933	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagaaatgttaaaaaaGagttcactagccatgcttta	17	11	7	6	0	2	2	2	0	0	2	2	3	2	2	1	0	2	3	1	0	6	5			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:9412933G>T	ENST00000345094.3	+	4	854	c.520G>T	c.(520-522)Gag>Tag	p.E174*	THUMPD3_ENST00000452837.2_Nonsense_Mutation_p.E174*|THUMPD3_ENST00000515662.2_Nonsense_Mutation_p.E174*|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	174	THUMP.						methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TGTTAAAAAAGAGTTCACTAG	0.308													12	15					1.08611e-07	1.18748e-07	1	0	T	9412933	G	T	9412933	4	4	26	1	0	0	0	0	0	1	0	0	15978	943	33	2	530	2	THUMPD3	3	9412933	Nonsense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08		9412933	188609497	21	4957											
VGLL4	9686	broad.mit.edu	37	chr3	11643423	11643423	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgattgggggagggccGgtgcggtgactgctgagggc	4	7	23	7	2	0	3	0	3	0	0	0	4	0	4	1	7	2	2	1	7	0	1	rs151086238	byFrequency	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:11643423G>T	ENST00000273038.3	-	3	503	c.138C>A	c.(136-138)acC>acA	p.T46T	VGLL4_ENST00000413604.1_5'UTR|VGLL4_ENST00000404339.1_Silent_p.T51T|VGLL4_ENST00000430365.2_Silent_p.T52T	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GGGGAGGGCCGGTGCGGTGAC	0.592													8	47					0.000157383	0.0001644	1	0	T	11643423	G	T	11643423	2	4	26	1	0	0	0	0	0	0	0	1	17257	1103	39	3		3	VGLL4	3	11643423	Silent	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	2230490	11643423	186379007	22	4958											
ST3GAL6	10402	broad.mit.edu	37	chr3	98512578	98512578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggacattatagaaaaaaaCctcgtaatcaacttgactca	19	9	5	8	1	2	2	2	1	0	1	3	3	2	3	1	1	2	1	1	1	8	4			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:98512578C>A	ENST00000265261.6	+	10	1037	c.615C>A	c.(613-615)aaC>aaA	p.N205K	ST3GAL6_ENST00000483910.1_Missense_Mutation_p.N323K|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.N323K	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	323					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TAGAAAAAAACCTCGTAATCA	0.328													20	26					1.10513e-12	1.24994e-12	1	0	A	98512578	C	A	98512578	3	1	26	1	0	0	0	0	1	0	0	0	15309	506	18	4	1003	4	ST3GAL6	3	98512578	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	86869155	98512578	99509852	23	4959											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133958	119133958	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccacagattaggcaaggtgGtgttcctgggccagagagca	10	8	14	9	0	0	2	0	0	0	2	2	3	2	2	3	4	1	3	3	4	2	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:119133958G>C	ENST00000264245.4	+	12	3714	c.3182G>C	c.(3181-3183)gGt>gCt	p.G1061A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1061					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGGCAAGGTGGTGTTCCTGGG	0.587													110	134					0	0	0	0	C	119133958	G	C	119133958	3	2	26	1	0	0	0	0	1	0	0	0	882	1261	44	4	3228	4	ARHGAP31	3	119133958	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	20621380	119133958	78888472	24	4960											
CPA3	1359	broad.mit.edu	37	chr3	148614363	148614363	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgggcatcaaacacacaTttgcctttgagctccgagat	11	10	8	12	1	1	2	1	1	0	1	2	3	2	2	3	1	3	2	3	1	1	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:148614363T>A	ENST00000296046.3	+	11	1175	c.1123T>A	c.(1123-1125)Ttt>Att	p.F375I	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	375					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CAAACACACATTTGCCTTTGA	0.408													24	67					0	0	0	0	A	148614363	T	A	148614363	3	1	26	1	0	0	0	0	1	0	0	0	3821	1493	52	5	1165	5	CPA3	3	148614363	Missense_Mutation	SNP	T	TCGA-BA-A6D8-01A-31D-A31L-08	29480405	148614363	49408067	25	4961											
TP63	8626	broad.mit.edu	37	chr3	189582020	189582020	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggccccaactctaagcaGtattccactgaactgaagaa	14	8	7	12	0	1	3	0	2	1	1	2	3	2	3	3	1	3	2	3	1	6	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:189582020G>A	ENST00000264731.3	+	5	668		c.e5-1		TP63_ENST00000320472.5_Splice_Site|TP63_ENST00000449992.1_Splice_Site|TP63_ENST00000456148.1_Splice_Site|TP63_ENST00000392460.3_Splice_Site|TP63_ENST00000354600.5_Splice_Site|TP63_ENST00000437221.1_Splice_Site|TP63_ENST00000392463.2_Splice_Site|TP63_ENST00000382063.4_Splice_Site|TP63_ENST00000418709.2_Splice_Site|TP63_ENST00000440651.2_Splice_Site|TP63_ENST00000392461.3_Splice_Site	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACTCTAAGCAGTATTCCACTG	0.458										HNSCC(45;0.13)			165	142					0	0	0	0	A	189582020	G	A	189582020	5	1	26	1	0	0	0	0	0	0	1	0	16487	1043	36	4	643	4	TP63	3	189582020	Splice_Site	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	40967657	189582020	8440410	26	4962											
SLAIN2	57606	broad.mit.edu	37	chr4	48381711	48381711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttttttttttaaggtaaCttgaaaagctcagacagaaa	14	17	6	4	0	1	3	1	1	0	2	1	3	1	3	0	1	2	2	0	1	5	9			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:48381711C>G	ENST00000264313.6	+	4	1126	c.708C>G	c.(706-708)aaC>aaG	p.N236K	SLAIN2_ENST00000512093.1_Missense_Mutation_p.N43K|SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	236						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TTTAAGGTAACTTGAAAAGCT	0.318													14	19					0	0	0	0	G	48381711	C	G	48381711	3	3	26	1	0	0	0	0	1	0	0	0	14454	564	20	4	722	4	SLAIN2	4	48381711	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08		48381711	142772565	27	4963											
MUC7	4589	broad.mit.edu	37	chr4	71347156	71347156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcttcctcagctccacCagagaccacagctgccccac	10	6	5	20	0	2	1	1	0	1	1	4	2	4	1	7	0	3	2	7	0	0	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:71347156C>A	ENST00000413702.1	+	4	983	c.695C>A	c.(694-696)cCa>cAa	p.P232Q	MUC7_ENST00000304887.5_Missense_Mutation_p.P232Q|MUC7_ENST00000456088.1_Missense_Mutation_p.P232Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	232	Thr-rich.					extracellular region	protein binding	p.P232Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCAGCTCCACCAGAGACCACA	0.587													7	183					0.00621372	0.00636906	1	0	A	71347156	C	A	71347156	3	1	26	1	0	0	0	0	1	0	0	0	10051	594	21	4	701	4	MUC7	4	71347156	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	22965445	71347156	119807120	28	4964											
SDAD1	55153	broad.mit.edu	37	chr4	76879032	76879032	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcatcggaagagtgttGcacatcaatccattcaccat	11	13	6	11	1	4	1	3	0	1	1	6	2	5	2	2	1	1	2	2	1	2	4			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:76879032G>A	ENST00000356260.5	-	18	1664	c.1546C>T	c.(1546-1548)Caa>Taa	p.Q516*	SDAD1_ENST00000395711.4_Nonsense_Mutation_p.Q479*	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	516					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAGAGTGTTGCACATCAATC	0.413													44	152					0	0	0	0	A	76879032	G	A	76879032	4	1	26	1	0	0	0	0	0	1	0	0	14037	1328	46	4	537	4	SDAD1	4	76879032	Nonsense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	5531876	76879032	114275244	29	4965											
KIAA1109	84162	broad.mit.edu	37	chr4	123150333	123150333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttgaaatatactatgattCgtttagcagtagatggagcc	13	14	9	5	1	0	3	0	2	0	1	1	4	0	4	1	1	3	3	1	1	6	8			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:123150333C>T	ENST00000264501.4	+	25	3353	c.2980C>T	c.(2980-2982)Cgt>Tgt	p.R994C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R994C|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R994C			Q2LD37	K1109_HUMAN	KIAA1109	994					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TACTATGATTCGTTTAGCAGT	0.358													25	24					0	0	0	0	T	123150333	C	T	123150333	3	4	26	1	0	0	0	0	1	0	0	0	8259	884	31	1	3070	1	KIAA1109	4	123150333	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	46271301	123150333	68003943	30	4966											
PDZD2	23037	broad.mit.edu	37	chr5	32093099	32093099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgaaatctaccatcctaaCtctcattcaggaagcgaaag	15	9	6	11	2	3	0	2	0	2	0	6	3	4	1	2	1	3	0	2	1	5	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr5:32093099C>T	ENST00000438447.1	+	21	8202	c.7814C>T	c.(7813-7815)aCt>aTt	p.T2605I	PDZD2_ENST00000282493.3_Missense_Mutation_p.T2605I			O15018	PDZD2_HUMAN	PDZ domain containing 2	2605					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACCATCCTAACTCTCATTCAG	0.458											OREG0016544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	76					0	0	0	0	T	32093099	C	T	32093099	3	4	26	1	0	0	0	0	1	0	0	0	11772	565	20	4	7892	4	PDZD2	5	32093099	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08		32093099	148822161	31	4967											
MEF2C	4208	broad.mit.edu	37	chr5	88018473	88018473	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgactgagggactttccCtttcgtccggcgaaggtctg	5	12	13	11	3	1	2	0	2	1	0	4	4	3	3	2	3	0	1	2	3	1	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr5:88018473C>G	ENST00000504921.2	-	10	2042	c.1370G>C	c.(1369-1371)aGg>aCg	p.R457T	MEF2C_ENST00000508569.1_Missense_Mutation_p.R417T|MEF2C_ENST00000514015.1_Missense_Mutation_p.R425T|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000424173.2_Missense_Mutation_p.R447T|MEF2C_ENST00000539796.1_Missense_Mutation_p.R401T|MEF2C_ENST00000510942.1_Missense_Mutation_p.R449T|MEF2C_ENST00000514028.1_Missense_Mutation_p.R457T|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000340208.5_Missense_Mutation_p.R467T|MEF2C_ENST00000437473.2_Missense_Mutation_p.R457T			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	457					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GGGACTTTCCCTTTCGTCCGG	0.493										HNSCC(66;0.2)			77	69					0	0	0	0	G	88018473	C	G	88018473	3	3	26	1	0	0	0	0	1	0	0	0	9526	681	24	4	55	4	MEF2C	5	88018473	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	55925374	88018473	92896787	32	4968											
RASGEF1C	255426	broad.mit.edu	37	chr5	179564678	179564678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggggctcgatgaagaggCgagagctcagcaggaaggtg	10	4	18	9	3	1	3	1	1	0	2	2	6	1	4	1	5	2	3	1	5	2	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr5:179564678C>T	ENST00000393371.2	-	2	508	c.212G>A	c.(211-213)cGc>cAc	p.R71H	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R71H			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	71	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGAAGAGGCGAGAGCTCAG	0.642													14	19					0	0	0	0	T	179564678	C	T	179564678	3	4	26	1	0	0	0	0	1	0	0	0	13153	768	27	1	1236	1	RASGEF1C	5	179564678	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	91546205	179564678	1350582	33	4969											
HLA-B	3106	broad.mit.edu	37	chr6	31323359	31323360	+	Frame_Shift_Ins	INS	-	-	T																															ggtggtgggtcacgtgtgtcINStttggggggtctgatgggaa																								rs67709394		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:31323359_31323360insT	ENST00000412585.2	-	4	657_658	c.629_630insA	c.(628-630)aacfs	p.N210fs		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCACGTGTGTCTTTGGGGGGTC	0.584									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				52	146	---	---	---	---					T	31323360	-	T	31323359	7	5	26	1	0	1	1	0	0	0	0	0	7246	912	32	0	474	0	HLA-B	6	31323359	Frame_Shift_Ins	INS	-	TCGA-BA-A6D8-01A-31D-A31L-08		31323359	139791708	34	4970											
PKHD1	5314	broad.mit.edu	37	chr6	51913367	51913367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgctgtcgtctctgtgtcGtcaccaggaccagtccagat	6	11	10	14	3	2	1	1	0	1	1	7	2	4	2	4	1	0	1	4	1	0	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:51913367G>A	ENST00000371117.3	-	23	2605	c.2330C>T	c.(2329-2331)aCg>aTg	p.T777M	PKHD1_ENST00000340994.4_Missense_Mutation_p.T777M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	777					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.T777M(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTCTGTGTCGTCACCAGGAC	0.527													21	49					0	0	0	0	A	51913367	G	A	51913367	3	1	26	1	0	0	0	0	1	0	0	0	12043	1145	40	1	10113	1	PKHD1	6	51913367	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	20590008	51913367	119201700	35	4971											
COL19A1	1310	broad.mit.edu	37	chr6	70866118	70866118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtatgattccatggccCggaaggtgagaagcctggct	11	8	14	8	1	0	2	0	2	0	1	1	5	1	3	3	4	1	2	3	4	4	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:70866118C>T	ENST00000322773.4	+	32	2281	c.2179C>T	c.(2179-2181)Cgg>Tgg	p.R727W	COL19A1_ENST00000393344.1_Missense_Mutation_p.R349W	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	727	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTCCATGGCCCGGAAGGTGAG	0.502													15	46					0	0	0	0	T	70866118	C	T	70866118	3	4	26	1	0	0	0	0	1	0	0	0	3706	643	23	1	2301	1	COL19A1	6	70866118	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	18952751	70866118	100248949	36	4972											
RIMS1	22999	broad.mit.edu	37	chr6	73023285	73023285	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatagtgatgtcagtgatgTttccgccatttcccgaacca	10	12	9	10	2	1	3	1	2	0	1	3	4	3	3	4	0	1	1	4	0	2	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:73023285T>A	ENST00000264839.7	+	24	3587	c.3587T>A	c.(3586-3588)gTt>gAt	p.V1196D	RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000538414.1_Missense_Mutation_p.V153D|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000517960.1_Missense_Mutation_p.V1139D|RIMS1_ENST00000401910.3_Missense_Mutation_p.V667D|RIMS1_ENST00000491071.2_Missense_Mutation_p.V1170D|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000348717.5_Missense_Mutation_p.V1139D|RIMS1_ENST00000521978.1_Missense_Mutation_p.V1347D			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1347					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)				GTCAGTGATGTTTCCGCCATT	0.453													10	19					0	0	0	0	A	73023285	T	A	73023285	3	1	26	1	0	0	0	0	1	0	0	0	13452	1725	60	5	4313	5	RIMS1	6	73023285	Missense_Mutation	SNP	T	TCGA-BA-A6D8-01A-31D-A31L-08	2157167	73023285	98091782	37	4973											
SLC2A12	154091	broad.mit.edu	37	chr6	134312379	134312379	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctggggttttcttttttGaggctgttttggcactaatt	4	20	10	7	0	1	1	0	1	1	0	2	1	2	1	1	4	0	4	1	4	1	9			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:134312379G>C	ENST00000275230.5	-	5	1923	c.1768C>G	c.(1768-1770)Caa>Gaa	p.Q590E		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	590						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TTTCTTTTTTGAGGCTGTTTT	0.433													48	88					0	0	0	0	C	134312379	G	C	134312379	3	2	26	1	0	0	0	0	1	0	0	0	14629	1299	45	2	89	2	SLC2A12	6	134312379	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	61289094	134312379	36802688	38	4974											
ICA1	3382	broad.mit.edu	37	chr7	8178675	8178675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaatactttttccatcttCagctgtaatataacatgtgc	13	16	4	8	0	2	0	1	0	1	0	3	0	3	0	1	0	4	2	1	0	6	8			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:8178675C>T	ENST00000402384.3	-	11	1224	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	ICA1_ENST00000265577.7_Missense_Mutation_p.E319K|ICA1_ENST00000406470.2_Missense_Mutation_p.E320K|ICA1_ENST00000422063.2_Missense_Mutation_p.E349K|ICA1_ENST00000401396.1_Missense_Mutation_p.E308K|ICA1_ENST00000396675.3_Missense_Mutation_p.E320K			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	320					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTTCCATCTTCAGCTGTAATA	0.373													9	39					0	0	0	0	T	8178675	C	T	8178675	3	4	26	1	0	0	0	0	1	0	0	0	7530	835	29	2	509	2	ICA1	7	8178675	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08		8178675	150959988	39	4975											
YWHAG	7532	broad.mit.edu	37	chr7	75959452	75959452	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctcaatgctactgatGaccctccaggaagagcggcg	9	9	11	12	2	2	3	1	2	1	1	3	4	3	4	2	2	4	2	2	2	3	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:75959452G>T	ENST00000307630.3	-	2	408	c.186C>A	c.(184-186)gtC>gtA	p.V62V		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	62					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						TGCTACTGATGACCCTCCAGG	0.532													23	119					8.04996e-18	9.29713e-18	1	0	T	75959452	G	T	75959452	2	4	26	1	0	0	0	0	0	0	0	1	17599	1277	45	2		2	YWHAG	7	75959452	Silent	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	67780777	75959452	83179211	40	4976											
HGF	3082	broad.mit.edu	37	chr7	81334750	81334750	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagccccagcacatatttCagactcattcagagtcacct	11	11	5	14	0	5	2	5	0	0	2	5	2	5	2	3	0	2	1	3	0	1	4			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:81334750C>G	ENST00000222390.5	-	17	2192	c.1966G>C	c.(1966-1968)Gaa>Caa	p.E656Q	HGF_ENST00000457544.2_Missense_Mutation_p.E651Q	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	656	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.E656K(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCACATATTTCAGACTCATTC	0.408													3	62					0	0	0	0	G	81334750	C	G	81334750	3	3	26	1	0	0	0	0	1	0	0	0	7135	835	29	2	228	2	HGF	7	81334750	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	5375298	81334750	77803913	41	4977											
HGF	3082	broad.mit.edu	37	chr7	81388012	81388012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagaagtcagttacctttGttttcatagaggtcaaattc	11	14	10	6	0	3	2	3	0	0	2	4	3	3	2	1	2	1	2	1	2	4	6			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:81388012G>T	ENST00000222390.5	-	3	589	c.363C>A	c.(361-363)aaC>aaA	p.N121K	HGF_ENST00000457544.2_Missense_Mutation_p.N121K|HGF_ENST00000354224.6_Missense_Mutation_p.N121K|HGF_ENST00000444829.2_Missense_Mutation_p.N121K|HGF_ENST00000453411.1_Missense_Mutation_p.N121K|HGF_ENST00000423064.2_Missense_Mutation_p.N121K|HGF_ENST00000453018.1_Missense_Mutation_p.N18K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	121	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGTTACCTTTGTTTTCATAGA	0.338													18	23					2.94398e-08	3.24036e-08	1	0	T	81388012	G	T	81388012	3	4	26	1	0	0	0	0	1	0	0	0	7135	1368	48	4	1907	4	HGF	7	81388012	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	53262	81388012	77750651	42	4978											
ZAN	7455	broad.mit.edu	37	chr7	100370987	100370987	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagcagcataaacaacccGagggactgccccaaagcact	14	4	9	14	1	0	0	0	0	0	0	0	2	0	1	3	1	7	4	3	1	4	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:100370987G>A	ENST00000542585.1	+	0	5653				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TAAACAACCCGAGGGACTGCC	0.577													12	43					0	0	0	0	A	100370987	G	A	100370987	1	1	26	0	1	0	0	0	0	0	0	0	17609	1045	37	1		1	ZAN	7	100370987	RNA	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	18982975	100370987	58767676	43	4979											
MKLN1	4289	broad.mit.edu	37	chr7	131012647	131012647	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtcggtggcggccgctacGgtgctgacaagatggcggct	5	7	18	11	6	0	2	0	1	0	1	1	2	0	2	1	7	2	3	1	7	2	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:131012647G>A	ENST00000352689.6	+	0	29				MKLN1_ENST00000421797.2_Intron|MKLN1_ENST00000429546.1_Intron	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs						signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CGGCCGCTACGGTGCTGACAA	0.721													22	32					0	0	0	0	A	131012647	G	A	131012647	1	1	26	1	0	0	0	0	0	0	0	0	9672	1131	39	1		1	MKLN1	7	131012647	Translation_Start_Site	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	30641660	131012647	28126016	44	4980											
RAB19	401409	broad.mit.edu	37	chr7	140125940	140125940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaagtgaaaagacccactGcacttgctaagatgtttgca	13	10	8	10	0	0	3	0	1	0	2	1	3	1	3	2	0	3	4	2	0	4	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:140125940G>T	ENST00000275874.5	+	5	983	c.785G>T	c.(784-786)tGc>tTc	p.C262F	RAB19_ENST00000356407.3_Missense_Mutation_p.C215F|RAB19_ENST00000537763.1_Missense_Mutation_p.C215F			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	215					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					AAGACCCACTGCACTTGCTAA	0.577													18	48					2.37509e-13	2.70497e-13	1	0	T	140125940	G	T	140125940	3	4	26	1	0	0	0	0	1	0	0	0	12986	1319	46	4	654	4	RAB19	7	140125940	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	9113293	140125940	19012723	45	4981											
CNTNAP2	26047	broad.mit.edu	37	chr7	147914379	147914379	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctctctcctttataacaGatgttggtgcattttttgaa	8	19	6	8	0	2	2	0	1	2	1	5	2	3	2	1	1	2	2	1	1	3	7			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:147914379G>C	ENST00000361727.3	+	19	3526		c.e19-1		CNTNAP2_ENST00000538075.1_Splice_Site	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTTATAACAGATGTTGGTGC	0.478										HNSCC(39;0.1)			33	48					0	0	0	0	C	147914379	G	C	147914379	5	2	26	1	0	0	0	0	0	0	1	0	3677	956	33	2	3084	2	CNTNAP2	7	147914379	Splice_Site	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	7788439	147914379	11224284	46	4982											
ZNF775	285971	broad.mit.edu	37	chr7	150094135	150094135	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagacccactcccggcccgCcacccactcgtgccccgagt	7	4	9	21	4	0	1	0	0	0	1	2	3	1	1	7	1	1	0	7	1	1	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:150094135C>G	ENST00000329630.5	+	3	673	c.566C>G	c.(565-567)gCc>gGc	p.A189G		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCGGCCCGCCACCCACTCG	0.736													3	11					0	0	0	0	G	150094135	C	G	150094135	3	3	26	1	0	0	0	0	1	0	0	0	18241	739	26	4	572	4	ZNF775	7	150094135	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	2179756	150094135	9044528	47	4983											
PAXIP1	22976	broad.mit.edu	37	chr7	154738073	154738073	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattctcttttggaaaggatAtgattcatagtccagcgttt	11	16	8	6	1	2	1	1	1	1	0	4	3	3	3	1	2	1	1	1	2	4	7			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:154738073A>G	ENST00000404141.1	-	20	3349		c.e20+1		PAXIP1_ENST00000473219.1_Splice_Site|PAXIP1_ENST00000397192.1_Splice_Site_p.Y1066_splice			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1						DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TGGAAAGGATATGATTCATAG	0.403													41	76					0	0	0	0	G	154738073	A	G	154738073	5	3	26	1	0	0	0	0	0	0	1	0	11558	463	16	5	21	5	PAXIP1	7	154738073	Splice_Site	SNP	A	TCGA-BA-A6D8-01A-31D-A31L-08	4643938	154738073	4400590	48	4984											
CLVS1	157807	broad.mit.edu	37	chr8	62212768	62212768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatcgatgggttccccGgggtgctggaaaaccgagac	8	8	14	11	3	1	2	0	1	1	1	3	5	2	3	3	4	2	2	3	4	2	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr8:62212768G>A	ENST00000519846.1	+	3	854	c.382G>A	c.(382-384)Ggg>Agg	p.G128R	CLVS1_ENST00000325897.4_Missense_Mutation_p.G128R|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	128	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGGGTTCCCCGGGGTGCTGGA	0.483													14	40					0	0	0	0	A	62212768	G	A	62212768	3	1	26	1	0	0	0	0	1	0	0	0	3601	1116	39	1	384	1	CLVS1	8	62212768	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08		62212768	84151254	49	4985											
PSKH2	85481	broad.mit.edu	37	chr8	87076416	87076416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaccactttttttcccGgagtatgccaaaccaaaatc	12	11	5	13	1	1	0	1	0	0	0	3	1	2	1	4	1	2	1	4	1	4	4			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr8:87076416G>A	ENST00000276616.2	-	2	704	c.630C>T	c.(628-630)tcC>tcT	p.S210S	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	210	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TTTTTTTCCCGGAGTATGCCA	0.423													14	26					0	0	0	0	A	87076416	G	A	87076416	2	1	26	1	0	0	0	0	0	0	0	1	12744	1103	39	1		1	PSKH2	8	87076416	Silent	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	24863648	87076416	59287606	50	4986											
RUNX1T1	862	broad.mit.edu	37	chr8	92999149	92999149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccactcttctgcccattctCtgtctgttagtctgtgatca	5	17	6	13	0	6	1	1	1	5	0	8	1	7	1	2	0	1	1	2	0	1	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr8:92999149C>T	ENST00000523629.1	-	8	1497	c.1043G>A	c.(1042-1044)aGa>aAa	p.R348K	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R359K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R321K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R311K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R311K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R348K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R311K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R321K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	348	Important for oligomerization.				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)			TGCCCATTCTCTGTCTGTTAG	0.388													10	142					0	0	0	0	T	92999149	C	T	92999149	3	4	26	1	0	0	0	0	1	0	0	0	13832	913	32	2	791	2	RUNX1T1	8	92999149	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	5922733	92999149	53364873	51	4987											
KIAA0196	9897	broad.mit.edu	37	chr8	126059561	126059561	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggactggtacatgctttGccaatcttgaatctagaaaa	13	12	9	7	0	2	2	0	1	2	1	2	3	2	3	1	2	3	2	1	2	6	4			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr8:126059561G>A	ENST00000318410.7	-	20	2741	c.2392C>T	c.(2392-2394)Caa>Taa	p.Q798*	KIAA0196_ENST00000517845.1_Nonsense_Mutation_p.Q650*	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	798					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TACATGCTTTGCCAATCTTGA	0.353													11	52					0	0	0	0	A	126059561	G	A	126059561	4	1	26	1	0	0	0	0	0	1	0	0	8212	1328	46	4	1127	4	KIAA0196	8	126059561	Nonsense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	33060412	126059561	20304461	52	4988											
RECQL4	9401	broad.mit.edu	37	chr8	145742569	145742569	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccagcagcggggctcTggcgcctgcaggagacaaca	8	3	15	15	2	1	1	0	0	1	1	1	2	1	1	3	5	4	3	3	5	1	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr8:145742569T>A	ENST00000428558.2	-	4	260	c.219A>T	c.(217-219)ccA>ccT	p.P73P	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	73					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCGGGGCTCTGGCGCCTGCA	0.711			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				8	11					0	0	0	0	A	145742569	T	A	145742569	2	1	26	1	0	0	0	0	0	0	0	1	13284	1567	55	5		5	RECQL4	8	145742569	Silent	SNP	T	TCGA-BA-A6D8-01A-31D-A31L-08	19683008	145742569	621453	53	4989											
DNAI1	27019	broad.mit.edu	37	chr9	34485161	34485161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagattcagggactgaaGtgggagaaggcacagatgaa	16	6	15	4	0	1	6	1	3	0	3	1	8	1	7	0	3	0	1	0	3	4	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:34485161G>A	ENST00000242317.4	+	3	274	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	DNAI1_ENST00000488369.1_3'UTR|DNAI1_ENST00000545019.1_Missense_Mutation_p.V35M	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	35					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AGGGACTGAAGTGGGAGAAGG	0.498									Kartagener syndrome				29	43					0	0	0	0	A	34485161	G	A	34485161	3	1	26	1	0	0	0	0	1	0	0	0	4645	1029	36	4	113	4	DNAI1	9	34485161	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08		34485161	106728270	54	4990											
TRPM3	80036	broad.mit.edu	37	chr9	73230854	73230854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctcttcctctttttcCtttgtgggcttctctggttc	1	21	7	12	0	3	0	0	0	3	0	8	0	6	0	3	2	0	2	3	2	0	6			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:73230854C>A	ENST00000377110.2	-	17	2703	c.2460G>T	c.(2458-2460)aaG>aaT	p.K820N	TRPM3_ENST00000396280.5_Missense_Mutation_p.K669N|TRPM3_ENST00000357533.2_Missense_Mutation_p.K824N|TRPM3_ENST00000423814.3_Missense_Mutation_p.K847N|TRPM3_ENST00000358082.3_Missense_Mutation_p.K682N|TRPM3_ENST00000377105.1_Missense_Mutation_p.K679N|TRPM3_ENST00000377106.1_Missense_Mutation_p.K692N|TRPM3_ENST00000396285.1_Missense_Mutation_p.K667N|TRPM3_ENST00000377111.2_Missense_Mutation_p.K820N|TRPM3_ENST00000360823.2_Missense_Mutation_p.K682N|TRPM3_ENST00000408909.2_Missense_Mutation_p.K679N|TRPM3_ENST00000396292.4_Missense_Mutation_p.K692N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	845						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCTCTTTTTCCTTTGTGGGCT	0.468													62	22					1.26778e-28	1.50664e-28	1	0	A	73230854	C	A	73230854	3	1	26	1	0	0	0	0	1	0	0	0	16682	680	24	4	2699	4	TRPM3	9	73230854	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	38745693	73230854	67982577	55	4991											
RORB	6096	broad.mit.edu	37	chr9	77280437	77280437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttagtgagaatgtgccGtgccttcaacccattaaaca	11	12	9	9	1	1	1	1	1	0	1	1	2	1	1	3	1	4	1	3	1	5	4			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:77280437G>C	ENST00000376896.2	+	7	1538	c.926G>C	c.(925-927)cGt>cCt	p.R309P	RORB_ENST00000396204.2_Missense_Mutation_p.R320P	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	320	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R309H(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						AGAATGTGCCGTGCCTTCAAC	0.313													29	64					0	0	0	0	C	77280437	G	C	77280437	3	2	26	1	0	0	0	0	1	0	0	0	13614	1145	40	3	952	3	RORB	9	77280437	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	4049583	77280437	63932994	56	4992											
STXBP1	6812	broad.mit.edu	37	chr9	130427537	130427537	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtcagggaatacaaggAcaatgccctgctggctcagc	10	9	11	11	0	2	0	2	0	0	0	2	2	2	2	1	3	4	2	1	3	4	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:130427537A>T	ENST00000373302.3	+	8	729	c.590A>T	c.(589-591)gAc>gTc	p.D197V	STXBP1_ENST00000373299.1_Missense_Mutation_p.D197V	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	197					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GAATACAAGGACAATGCCCTG	0.562													55	119					0	0	0	0	T	130427537	A	T	130427537	3	4	26	1	0	0	0	0	1	0	0	0	15442	275	10	5	620	5	STXBP1	9	130427537	Missense_Mutation	SNP	A	TCGA-BA-A6D8-01A-31D-A31L-08	53147100	130427537	10785894	57	4993											
COL5A1	1289	broad.mit.edu	37	chr9	137650128	137650128	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggctgggttgccaggcGagaagggccacagggtgagt	7	6	19	9	1	0	2	0	1	0	1	0	3	0	2	3	5	1	2	3	5	1	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:137650128G>T	ENST00000371817.3	+	18	2335	c.1921G>T	c.(1921-1923)Gag>Tag	p.E641*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	641	Triple-helical region.			E -> G (in Ref. 4; AA sequence).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTTGCCAGGCGAGAAGGGCCA	0.622													57	35					5.52965e-18	6.43165e-18	1	0	T	137650128	G	T	137650128	4	4	26	1	0	0	0	0	0	1	0	0	3726	1059	37	3	1991	3	COL5A1	9	137650128	Nonsense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	7222591	137650128	3563303	58	4994											
NOTCH1	4851	broad.mit.edu	37	chr9	139417630	139417630	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgcacgggtcagcctgctgGcacgatttccctggagacaa	8	7	13	13	3	1	1	1	0	0	1	2	3	2	1	2	3	2	3	2	3	1	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:139417630G>T	ENST00000277541.6	-	4	489	c.414C>A	c.(412-414)tgC>tgA	p.C138*	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	138	EGF-like 3.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGCCTGCTGGCACGATTTCC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			13	3					1.05317e-09	1.17497e-09	1	0	T	139417630	G	T	139417630	4	4	26	1	0	0	0	0	0	1	0	0	10617	1195	42	4	7377	4	NOTCH1	9	139417630	Nonsense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	1767502	139417630	1795801	59	4995											
GDI2	2665	broad.mit.edu	37	chr10	5808504	5808504	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagctggtctgatttccttCtcaggctccttggtttccac	6	15	8	12	0	2	1	1	1	2	0	6	1	5	1	3	3	1	3	3	3	1	4			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:5808504C>G	ENST00000380191.4	-	9	1379	c.1089G>C	c.(1087-1089)gaG>gaC	p.E363D	GDI2_ENST00000380132.4_Missense_Mutation_p.E367D|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380181.3_Missense_Mutation_p.E318D	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	363					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TGATTTCCTTCTCAGGCTCCT	0.433													31	42					0	0	0	0	G	5808504	C	G	5808504	3	3	26	1	0	0	0	0	1	0	0	0	6372	912	32	2	260	2	GDI2	10	5808504	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08		5808504	129726243	60	4996											
ITIH5	80760	broad.mit.edu	37	chr10	7608335	7608335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtggccatttggaggggCgggtgccccaattaactctc	6	11	13	11	1	1	0	0	0	1	0	2	1	1	1	3	5	2	0	3	5	2	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:7608335C>T	ENST00000256861.6	-	13	2263	c.2185G>A	c.(2185-2187)Gcc>Acc	p.A729T	ITIH5_ENST00000446830.2_Missense_Mutation_p.A511T|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.A515T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	729					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTTGGAGGGGCGGGTGCCCCA	0.512													8	25					0	0	0	0	T	7608335	C	T	7608335	3	4	26	1	0	0	0	0	1	0	0	0	7960	768	27	1	693	1	ITIH5	10	7608335	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	1799831	7608335	127926412	61	4997											
BICC1	80114	broad.mit.edu	37	chr10	60549041	60549041	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgcttcctttggtgcTgatgtttgagctaccaattg	6	15	12	8	0	0	2	0	2	0	0	1	3	1	3	2	2	5	5	2	2	2	5			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:60549041T>A	ENST00000373886.3	+	7	624	c.620T>A	c.(619-621)cTg>cAg	p.L207Q		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	207					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CCTTTGGTGCTGATGTTTGAG	0.378													21	19					0	0	0	0	A	60549041	T	A	60549041	3	1	26	1	0	0	0	0	1	0	0	0	1432	1580	55	5	646	5	BICC1	10	60549041	Missense_Mutation	SNP	T	TCGA-BA-A6D8-01A-31D-A31L-08	52940706	60549041	74985706	62	4998											
CTNNA3	29119	broad.mit.edu	37	chr10	67680137	67680138	+	Frame_Shift_Ins	INS	-	-	T																															catgacttgcaatggatggaINStttttttctttgctgagcct																										TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:67680137_67680138insT	ENST00000433211.1	-	18	2812_2813	c.2638_2639insA	c.(2638-2640)ccafs	p.P880fs	CTNNA3_ENST00000373744.4_Frame_Shift_Ins_p.P880fs|CTNNA3_ENST00000373735.1_Frame_Shift_Ins_p.P219fs	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	880					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAATGGATGGATTTTTTTCTTT	0.411													7	83	---	---	---	---					T	67680138	-	T	67680137	7	5	26	1	0	1	1	0	0	0	0	0	4046	333	12	0	52	0	CTNNA3	10	67680137	Frame_Shift_Ins	INS	-	TCGA-BA-A6D8-01A-31D-A31L-08	7131096	67680137	67854610	63	4999											
LZTS2	84445	broad.mit.edu	37	chr10	102766754	102766754	+	Frame_Shift_Del	DEL	C	C	-																															aaggagcaggtgatccgctaCcagaagcagctgcagcacaa																										TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:102766754delC	ENST00000370220.1	+	4	4902	c.1839delC	c.(1837-1839)tafs	p.Y613fs	LZTS2_ENST00000370223.3_Frame_Shift_Del_p.Y613fs			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	613	Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TGATCCGCTACCAGAAGCAGC	0.672													2	4	---	---	---	---					-	102766754	C	-	102766754	7	5	26	1	0	1	0	1	0	0	0	0	9204	518	18	0	1853	0	LZTS2	10	102766754	Frame_Shift_Del	DEL	C	TCGA-BA-A6D8-01A-31D-A31L-08	35086617	102766754	32767993	64	5000											
FGF8	2253	broad.mit.edu	37	chr10	103530240	103530240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacgctggtgctgccgcGtcttggagcccttgcggggc	2	9	15	15	4	2	0	1	0	1	0	2	1	2	1	3	4	4	2	3	4	0	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:103530240G>A	ENST00000347978.2	-	5	663	c.494C>T	c.(493-495)aCg>aTg	p.T165M	FGF8_ENST00000346714.3_Missense_Mutation_p.T154M|FGF8_ENST00000344255.3_Missense_Mutation_p.T183M|FGF8_ENST00000320185.2_Missense_Mutation_p.T194M|FGF8_ENST00000485728.1_5'UTR	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	183					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GTGCTGCCGCGTCTTGGAGCC	0.642													3	19					0	0	0	0	A	103530240	G	A	103530240	3	1	26	1	0	0	0	0	1	0	0	0	5903	1145	40	1	157	1	FGF8	10	103530240	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	763486	103530240	32004507	65	5001											
DMBT1	1755	broad.mit.edu	37	chr10	124390760	124390760	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaggctggttctcccacaaCtgtaatcatcgtgaagatgc	10	10	10	11	2	2	2	1	1	1	1	4	3	2	2	1	2	2	3	1	2	3	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:124390760C>A	ENST00000338354.3	+	46	6028	c.5922C>A	c.(5920-5922)aaC>aaA	p.N1974K	DMBT1_ENST00000368956.2_Missense_Mutation_p.N1346K|DMBT1_ENST00000368909.3_Missense_Mutation_p.N1974K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N1964K|DMBT1_ENST00000359586.6_Missense_Mutation_p.N694K|DMBT1_ENST00000368955.3_Missense_Mutation_p.N1964K|DMBT1_ENST00000330163.4_Missense_Mutation_p.N1346K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1974	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTCCCACAACTGTAATCATC	0.537													52	82					3.07002e-29	3.67506e-29	1	0	A	124390760	C	A	124390760	3	1	26	1	0	0	0	0	1	0	0	0	4614	564	20	4	6104	4	DMBT1	10	124390760	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	20860520	124390760	11143987	66	5002											
C11orf16	56673	broad.mit.edu	37	chr11	8942974	8942974	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggttgctttcgagacCagctccttggtagtccccac	6	12	11	12	1	0	1	0	0	0	1	3	2	2	1	4	2	2	4	4	2	1	4			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:8942974C>G	ENST00000326053.5	-	6	1399	c.1293G>C	c.(1291-1293)ctG>ctC	p.L431L	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	431										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CTTTCGAGACCAGCTCCTTGG	0.498													35	45					0	0	0	0	G	8942974	C	G	8942974	2	3	26	1	0	0	0	0	0	0	0	1	1641	581	21	4		4	C11orf16	11	8942974	Silent	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08		8942974	126063542	67	5003											
MICALCL	84953	broad.mit.edu	37	chr11	12316275	12316275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccccaagaggaaggtgctgCctgaagatagtgcgcaggcc	10	5	15	11	1	0	3	0	1	0	2	0	4	0	4	4	3	3	2	4	3	4	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:12316275C>T	ENST00000256186.2	+	3	1588	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	433					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GAAGGTGCTGCCTGAAGATAG	0.557													70	79					0	0	0	0	T	12316275	C	T	12316275	3	4	26	1	0	0	0	0	1	0	0	0	9641	739	26	4	1303	4	MICALCL	11	12316275	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	3373301	12316275	122690241	68	5004											
LUZP2	338645	broad.mit.edu	37	chr11	24750790	24750790	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattcttcgtcagctgacAaagacatcaagagaacttga	15	9	7	10	1	3	4	2	2	1	2	4	5	3	4	1	0	2	1	1	0	3	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:24750790A>C	ENST00000336930.6	+	2	204	c.138A>C	c.(136-138)acA>acC	p.T46T	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	46						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GTCAGCTGACAAAGACATCAA	0.413													23	74					0	0	0	0	C	24750790	A	C	24750790	2	2	26	1	0	0	0	0	0	0	0	1	9151	117	5	5		5	LUZP2	11	24750790	Silent	SNP	A	TCGA-BA-A6D8-01A-31D-A31L-08	12434515	24750790	110255726	69	5005											
OR4D11	219986	broad.mit.edu	37	chr11	59271482	59271482	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaatgcactgccctcaTctctgcctcttggatggggg	6	10	13	12	0	3	0	1	0	2	0	4	1	3	1	2	4	3	2	2	4	1	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:59271482T>C	ENST00000313253.1	+	1	434	c.434T>C	c.(433-435)aTc>aCc	p.I145T		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						ACTGCCCTCATCTCTGCCTCT	0.517													57	90					0	0	0	0	C	59271482	T	C	59271482	3	2	26	1	0	0	0	0	1	0	0	0	11126	1435	50	5	436	5	OR4D11	11	59271482	Missense_Mutation	SNP	T	TCGA-BA-A6D8-01A-31D-A31L-08	34520692	59271482	75735034	70	5006											
TRPC6	7225	broad.mit.edu	37	chr11	101353835	101353835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgactagcagtcccagaaaaAtggtgaaggaggctgcgtgt	12	8	14	7	1	0	3	0	2	0	1	1	4	1	4	1	3	2	2	1	3	4	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:101353835A>G	ENST00000344327.3	-	5	1779	c.1355T>C	c.(1354-1356)aTt>aCt	p.I452T	TRPC6_ENST00000360497.4_Missense_Mutation_p.I397T|TRPC6_ENST00000532133.1_Missense_Mutation_p.I452T|TRPC6_ENST00000348423.4_Missense_Mutation_p.I336T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	452					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCCCAGAAAAATGGTGAAGGA	0.428													22	39					0	0	0	0	G	101353835	A	G	101353835	3	3	26	1	0	0	0	0	1	0	0	0	16678	101	4	5	1476	5	TRPC6	11	101353835	Missense_Mutation	SNP	A	TCGA-BA-A6D8-01A-31D-A31L-08	42082353	101353835	33652681	71	5007											
KIAA1377	57562	broad.mit.edu	37	chr11	101815012	101815012	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagagcttttgaggagaaaCgaaaagaacaggaagaaaaa	22	5	11	3	1	0	5	0	1	0	4	0	8	0	6	0	2	3	1	0	2	8	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:101815012C>T	ENST00000263468.8	+	3	535	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	89							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGAGGAGAAACGAAAAGAACA	0.313													16	18					0	0	0	0	T	101815012	C	T	101815012	4	4	26	1	0	0	0	0	0	1	0	0	8278	528	19	1	275	1	KIAA1377	11	101815012	Nonsense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	461177	101815012	33191504	72	5008											
KDELC2	143888	broad.mit.edu	37	chr11	108350156	108350156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctttaaaaccagactgtCgcccagcatgagatatggat	12	10	9	10	1	0	2	0	1	0	2	1	4	0	3	2	1	3	2	2	1	3	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:108350156C>T	ENST00000434945.2	-	5	1299	c.997G>A	c.(997-999)Gac>Aac	p.D333N	KDELC2_ENST00000375648.1_Missense_Mutation_p.D333N|KDELC2_ENST00000323468.5_Missense_Mutation_p.D389N|KDELC2_ENST00000532730.1_Intron			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	389						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ACCAGACTGTCGCCCAGCATG	0.388													13	27					0	0	0	0	T	108350156	C	T	108350156	3	4	26	1	0	0	0	0	1	0	0	0	8171	884	31	1	370	1	KDELC2	11	108350156	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	6535144	108350156	26656360	73	5009											
ATP5L	10632	broad.mit.edu	37	chr11	118277667	118277667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccagctgctgtgacttactCgaagcctcgattggccacat	8	11	9	13	2	0	1	0	1	0	0	3	3	1	1	3	1	4	2	3	1	2	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:118277667C>G	ENST00000300688.3	+	2	580	c.68C>G	c.(67-69)tCg>tGg	p.S23W	ATP5L_ENST00000529770.1_3'UTR|ATP5L_ENST00000524422.1_Missense_Mutation_p.S23W	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G	23					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding	p.S23L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		GTGACTTACTCGAAGCCTCGA	0.458													8	10					0	0	0	0	G	118277667	C	G	118277667	3	3	26	1	0	0	0	0	1	0	0	0	1164	893	31	3	74	3	ATP5L	11	118277667	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	9927511	118277667	16728849	74	5010											
IPO8	10526	broad.mit.edu	37	chr12	30783830	30783830	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtcccaaaattaaatgcGgagaggactcctttgttttc	12	12	8	9	1	0	1	0	0	0	1	3	3	2	2	2	2	1	1	2	2	4	4			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:30783830G>T	ENST00000256079.4	-	25	3416	c.3078C>A	c.(3076-3078)tcC>tcA	p.S1026S	IPO8_ENST00000544829.1_Silent_p.S821S	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	1026					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AATTAAATGCGGAGAGGACTC	0.413													24	41					2.08973e-25	2.46558e-25	1	0	T	30783830	G	T	30783830	2	4	26	1	0	0	0	0	0	0	0	1	7851	1103	39	3		3	IPO8	12	30783830	Silent	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08		30783830	103068065	75	5011											
CPNE8	144402	broad.mit.edu	37	chr12	39047819	39047819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctttagccaatctagcCatgctcagtatgtggtttcc	9	14	7	11	0	3	0	1	0	2	0	4	0	4	0	3	1	3	3	3	1	4	5			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:39047819C>T	ENST00000331366.5	-	20	1656	c.1560G>A	c.(1558-1560)atG>atA	p.M520I	CPNE8_ENST00000538596.2_Missense_Mutation_p.M189I|CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000360449.3_Missense_Mutation_p.M508I	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	520										NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CCAATCTAGCCATGCTCAGTA	0.453													3	43					0	0	0	0	T	39047819	C	T	39047819	3	4	26	1	0	0	0	0	1	0	0	0	3848	594	21	4	138	4	CPNE8	12	39047819	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	8263989	39047819	94804076	76	5012											
DBX2	440097	broad.mit.edu	37	chr12	45429828	45429828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagtggaggatgcagggCgccgacaggacccaccgcag	11	2	16	12	3	0	0	0	0	0	0	0	4	0	3	3	4	2	3	3	4	1	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:45429828C>A	ENST00000332700.6	-	2	644	c.473G>T	c.(472-474)cGc>cTc	p.R158L		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		ggatgcagggcgccgacagga	0.493													4	12					0.00909568	0.00920797	1	0	A	45429828	C	A	45429828	3	1	26	1	0	0	0	0	1	0	0	0	4293	768	27	3	558	3	DBX2	12	45429828	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	6382009	45429828	88422067	77	5013											
AMIGO2	347902	broad.mit.edu	37	chr12	47471911	47471911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaataaagccaagcgcaCgaaaggaaccattgatgatg	17	6	10	8	2	0	3	0	3	0	0	0	5	0	4	2	1	3	1	2	1	6	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:47471911C>T	ENST00000266581.4	-	2	1341	c.875G>A	c.(874-876)cGt>cAt	p.R292H	AMIGO2_ENST00000321382.3_Missense_Mutation_p.R292H|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R292H|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R292H	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	292	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GCCAAGCGCACGAAAGGAACC	0.507													4	106					0	0	0	0	T	47471911	C	T	47471911	3	4	26	1	0	0	0	0	1	0	0	0	576	536	19	1	697	1	AMIGO2	12	47471911	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	2042083	47471911	86379984	78	5014											
FMNL3	91010	broad.mit.edu	37	chr12	50045040	50045040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgaagacaggcagccGgaacttggtcttgataggtt	10	10	13	8	1	1	3	0	2	1	1	1	4	1	4	2	4	2	3	2	4	3	5			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:50045040G>A	ENST00000335154.5	-	16	1941	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	FMNL3_ENST00000352151.5_Missense_Mutation_p.R519W|FMNL3_ENST00000293590.5_Missense_Mutation_p.R570W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R570W	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	570	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ACAGGCAGCCGGAACTTGGTC	0.517													29	50					0	0	0	0	A	50045040	G	A	50045040	3	1	26	1	0	0	0	0	1	0	0	0	5998	1115	39	1	1419	1	FMNL3	12	50045040	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	2573129	50045040	83806855	79	5015											
ITGA7	3679	broad.mit.edu	37	chr12	56079042	56079042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactggggcacggtggcctCggggtgcttcgcccgtttga	3	10	17	11	4	0	1	0	1	0	0	2	1	0	1	2	6	2	4	2	6	1	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:56079042C>T	ENST00000257879.6	-	25	3429	c.3214G>A	c.(3214-3216)Gag>Aag	p.E1072K	ITGA7_ENST00000555728.1_Missense_Mutation_p.E1116K|ITGA7_ENST00000394230.2_Silent_p.P1113P|ITGA7_ENST00000394229.2_Silent_p.P1109P|ITGA7_ENST00000452168.2_Missense_Mutation_p.E979K|ITGA7_ENST00000347027.6_Missense_Mutation_p.E1066K|ITGA7_ENST00000257880.7_Silent_p.P1153P|ITGA7_ENST00000553804.1_Missense_Mutation_p.E1076K	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN	integrin, alpha 7	1116					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACGGTGGCCTCGGGGTGCTTC	0.602													10	55					0	0	0	0	T	56079042	C	T	56079042	3	4	26	1	0	0	0	0	1	0	0	0	7934	893	31	1	203	1	ITGA7	12	56079042	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	6034002	56079042	77772853	80	5016											
LRP1	4035	broad.mit.edu	37	chr12	57553653	57553653	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtggactggatgggagacaAtctgtactggacggacgatg	10	8	16	7	3	1	1	0	0	1	1	1	7	1	5	0	5	1	1	0	5	2	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:57553653A>G	ENST00000243077.3	+	12	2310	c.1844A>G	c.(1843-1845)aAt>aGt	p.N615S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	615					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATGGGAGACAATCTGTACTGG	0.537													32	62					0	0	0	0	G	57553653	A	G	57553653	3	3	26	1	0	0	0	0	1	0	0	0	9015	101	4	5	1890	5	LRP1	12	57553653	Missense_Mutation	SNP	A	TCGA-BA-A6D8-01A-31D-A31L-08	1474611	57553653	76298242	81	5017											
CAND1	55832	broad.mit.edu	37	chr12	67691443	67691443	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagctggtcatagaataGgtaagaaatctttaaaagtt	16	11	10	4	0	2	2	1	0	1	2	2	2	2	2	0	3	1	4	0	3	8	6			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:67691443G>A	ENST00000545606.1	+	5	1185	c.748_splice	c.e5+1	p.G250_splice		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	250					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCATAGAATAGGTAAGAAATC	0.299													19	26					0	0	0	0	A	67691443	G	A	67691443	5	1	26	1	0	0	0	0	0	0	1	0	2640	1014	35	4	766	4	CAND1	12	67691443	Splice_Site	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	10137790	67691443	66160452	82	5018											
ANO4	121601	broad.mit.edu	37	chr12	101477583	101477583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acttatcgtttctgcatctgGaatattttttatggtttgaa	9	20	7	5	1	2	1	0	1	2	0	3	2	2	2	0	2	1	3	0	2	5	7			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:101477583G>A	ENST00000392979.3	+	15	1779	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	ANO4_ENST00000392977.3_Missense_Mutation_p.G508E|ANO4_ENST00000550015.1_Intron|ANO4_ENST00000299222.9_Intron	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	508						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCTGCATCTGGAATATTTTTT	0.308										HNSCC(74;0.22)			18	19					0	0	0	0	A	101477583	G	A	101477583	3	1	26	1	0	0	0	0	1	0	0	0	698	1174	41	2	1472	2	ANO4	12	101477583	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	33786140	101477583	32374312	83	5019											
MYBPC1	4604	broad.mit.edu	37	chr12	102053472	102053472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattatggaaggcagtggccGgataagaacagaatcttacc	14	9	11	7	1	1	2	0	0	1	2	1	4	1	4	2	4	2	1	2	4	7	4	rs149018411	byFrequency	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:102053472G>A	ENST00000549145.1	+	18	1854	c.1754G>A	c.(1753-1755)cGg>cAg	p.R585Q	MYBPC1_ENST00000361466.2_Missense_Mutation_p.R597Q|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R473Q|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R572Q|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R597Q|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R553Q|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R572Q|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R559Q|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R560Q|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R572Q|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R572Q|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R572Q|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R546Q|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R572Q|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R558Q			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	572	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.R572Q(1)|p.R597Q(1)		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						GGCAGTGGCCGGATAAGAACA	0.408													16	44					0	0	0	0	A	102053472	G	A	102053472	3	1	26	1	0	0	0	0	1	0	0	0	10081	1116	39	1	1864	1	MYBPC1	12	102053472	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	575889	102053472	31798423	84	5020											
STARD13	90627	broad.mit.edu	37	chr13	33679799	33679799	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatcctggcaacttctgcTgcacacagatgtccaaagcc	11	9	7	14	0	1	1	0	0	1	1	3	1	3	1	3	1	4	3	3	1	3	2	rs149865098	byFrequency	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr13:33679799T>A	ENST00000336934.5	-	14	3389	c.3273A>T	c.(3271-3273)gcA>gcT	p.A1091A	STARD13_ENST00000399365.3_Silent_p.A973A|STARD13_ENST00000255486.4_Silent_p.A1083A	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	1091	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CAACTTCTGCTGCACACAGAT	0.468													40	20					0	0	0	0	A	33679799	T	A	33679799	2	1	26	1	0	0	0	0	0	0	0	1	15346	1567	55	5		5	STARD13	13	33679799	Silent	SNP	T	TCGA-BA-A6D8-01A-31D-A31L-08		33679799	81490079	85	5021											
NALCN	259232	broad.mit.edu	37	chr13	101833498	101833498	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggatgctctcccaagccAcgcagatgccaaggagaaga	14	4	11	12	1	1	3	0	0	1	3	2	5	1	4	3	2	3	2	3	2	4	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr13:101833498A>C	ENST00000376196.3	-	15	2114	c.1955T>G	c.(1954-1956)gTg>gGg	p.V652G	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000251127.6_Intron			Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	0						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTCCCAAGCCACGCAGATGCC	0.542													66	58					0	0	0	0	C	101833498	A	C	101833498	3	2	26	1	0	0	0	0	1	0	0	0	10218	174	6	5		5	NALCN	13	101833498	Missense_Mutation	SNP	A	TCGA-BA-A6D8-01A-31D-A31L-08	68153699	101833498	13336380	86	5022											
KIAA0391	9692	broad.mit.edu	37	chr14	35592829	35592829	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattcagaggagtgggataaActtaaggaagatttaaaaga	19	9	11	2	0	1	3	1	0	0	3	1	6	1	6	0	3	1	0	0	3	7	5			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr14:35592829A>G	ENST00000557565.1	+	2	759	c.378A>G	c.(376-378)aaA>aaG	p.K126K	KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Silent_p.K31K|KIAA0391_ENST00000603544.1_Silent_p.K126K|KIAA0391_ENST00000321130.10_Silent_p.K126K|KIAA0391_ENST00000250377.7_Silent_p.K31K|KIAA0391_ENST00000534898.4_Silent_p.K126K|KIAA0391_ENST00000603588.1_Intron			O15091	MRRP3_HUMAN	KIAA0391	126					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		AGTGGGATAAACTTAAGGAAG	0.408													22	20					0	0	0	0	G	35592829	A	G	35592829	2	3	26	1	0	0	0	0	0	0	0	1	8223	40	2	5		5	KIAA0391	14	35592829	Silent	SNP	A	TCGA-BA-A6D8-01A-31D-A31L-08		35592829	71756711	87	5023											
PPP2R5E	5529	broad.mit.edu	37	chr14	63851189	63851189	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgttcttttgaaatcctaTaaaggctggaaaacatgatg	15	13	8	5	0	1	2	0	2	1	0	2	3	2	3	1	2	1	2	1	2	7	5			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr14:63851189T>C	ENST00000337537.3	-	12	1777	c.1175A>G	c.(1174-1176)tAt>tGt	p.Y392C	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.Y392C|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.Y316C	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	392					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TGAAATCCTATAAAGGCTGGA	0.388													25	31					0	0	0	0	C	63851189	T	C	63851189	3	2	26	1	0	0	0	0	1	0	0	0	12472	1406	49	5	240	5	PPP2R5E	14	63851189	Missense_Mutation	SNP	T	TCGA-BA-A6D8-01A-31D-A31L-08	28258360	63851189	43498351	88	5024											
C14orf166B	145497	broad.mit.edu	37	chr14	77297647	77297647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acttcattcggaacatggagGagtcctacgtgaacctcaac	12	9	9	11	2	2	1	2	1	0	0	4	4	3	4	2	3	4	0	2	3	4	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr14:77297647G>A	ENST00000393774.3	+	3	443	c.319G>A	c.(319-321)Gag>Aag	p.E107K	C14orf166B_ENST00000450042.2_Missense_Mutation_p.E90K|C14orf166B_ENST00000460005.1_3'UTR	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	107										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GAACATGGAGGAGTCCTACGT	0.537													44	65					0	0	0	0	A	77297647	G	A	77297647	3	1	26	1	0	0	0	0	1	0	0	0	1769	1175	41	2	329	2	C14orf166B	14	77297647	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	13446458	77297647	30051893	89	5025											
CATSPERB	79820	broad.mit.edu	37	chr14	92189429	92189429	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaagatgccattatatgtActattcatgattcccaagct	12	14	7	8	0	1	2	1	1	0	1	2	3	2	3	2	1	3	2	2	1	6	6			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr14:92189429A>T	ENST00000256343.3	-	4	429	c.273T>A	c.(271-273)agT>agA	p.S91R		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	91					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CATTATATGTACTATTCATGA	0.348													10	60					0	0	0	0	T	92189429	A	T	92189429	3	4	26	1	0	0	0	0	1	0	0	0	2716	388	14	5	3173	5	CATSPERB	14	92189429	Missense_Mutation	SNP	A	TCGA-BA-A6D8-01A-31D-A31L-08	14891782	92189429	15160111	90	5026											
NOX5	79400	broad.mit.edu	37	chr15	69329471	69329471	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctggaatcttgttttTcctggagaaggccatcggac	7	12	13	9	1	1	1	0	0	1	1	3	4	2	3	3	5	1	1	3	5	2	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr15:69329471T>C	ENST00000260364.5	+	9	1539	c.1238T>C	c.(1237-1239)tTc>tCc	p.F413S	NOX5_ENST00000530406.2_Missense_Mutation_p.F403S|NOX5_ENST00000448182.3_Missense_Mutation_p.F385S|NOX5_ENST00000455873.3_Missense_Mutation_p.F396S|NOX5_ENST00000388866.3_Missense_Mutation_p.F431S			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	431	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTTGTTTTTCCTGGAGAAG	0.562													74	31					0	0	0	0	C	69329471	T	C	69329471	3	2	26	1	0	0	0	0	1	0	0	0	10629	1783	62	5	1355	5	NOX5	15	69329471	Missense_Mutation	SNP	T	TCGA-BA-A6D8-01A-31D-A31L-08		69329471	33201921	91	5027											
CSPG4	1464	broad.mit.edu	37	chr15	75982528	75982528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagatttccagccggtgaGcattgatgtggacactgacc	9	9	13	10	2	0	4	0	3	0	1	1	6	1	5	3	3	2	1	3	3	0	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr15:75982528G>A	ENST00000308508.5	-	3	970	c.878C>T	c.(877-879)gCt>gTt	p.A293V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	293	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGCCGGTGAGCATTGATGTG	0.622													9	41					0	0	0	0	A	75982528	G	A	75982528	3	1	26	1	0	0	0	0	1	0	0	0	3992	971	34	4	6122	4	CSPG4	15	75982528	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	6653057	75982528	26548864	92	5028											
NPRL3	8131	broad.mit.edu	37	chr16	169169	169169	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgggtgcccaacaaatcGcacattatcaatcttcagtt	11	13	7	10	1	3	0	2	0	1	0	4	0	3	0	1	1	2	3	1	1	4	4			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:169169G>A	ENST00000399953.3	-	3	676	c.274C>T	c.(274-276)Cga>Tga	p.R92*	NPRL3_ENST00000399951.3_Intron|NPRL3_ENST00000405960.3_5'UTR	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	92							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CCAACAAATCGCACATTATCA	0.478													4	6					0	0	0	0	A	169169	G	A	169169	4	1	26	1	0	0	0	0	0	1	0	0	10669	1095	38	1	1478	1	NPRL3	16	169169	Nonsense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08		169169	90185584	93	5029											
CREBBP	1387	broad.mit.edu	37	chr16	3843540	3843541	+	Frame_Shift_Ins	INS	-	-	T																															agtagaaccagctgctgctgINStatcagtttgcgtttttcag																										TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:3843540_3843541insT	ENST00000262367.5	-	4	1871_1872	c.1062_1063insA	c.(1060-1065)atagcafs	p.A355fs	CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.A355fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	355	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.Q355*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGCTGCTGCTGTATCAGTTTGC	0.49			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						37	38	---	---	---	---					T	3843541	-	T	3843540	7	5	26	1	0	1	1	0	0	0	0	0	3891	1386	48	0	6377	0	CREBBP	16	3843540	Frame_Shift_Ins	INS	-	TCGA-BA-A6D8-01A-31D-A31L-08	3674371	3843540	86511213	94	5030											
SMG1	23049	broad.mit.edu	37	chr16	18827673	18827673	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctccaagctgtcggttaTgaccagtgagcacagtcttt	9	12	9	11	1	2	2	0	2	2	0	4	2	2	2	2	1	2	3	2	1	2	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:18827673T>C	ENST00000446231.2	-	58	10665	c.10253A>G	c.(10252-10254)cAt>cGt	p.H3418R	SMG1_ENST00000389467.3_Missense_Mutation_p.H3419R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3418					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTGTCGGTTATGACCAGTGAG	0.393													25	23					0	0	0	0	C	18827673	T	C	18827673	3	2	26	1	0	0	0	0	1	0	0	0	14883	1464	51	5	756	5	SMG1	16	18827673	Missense_Mutation	SNP	T	TCGA-BA-A6D8-01A-31D-A31L-08	14984133	18827673	71527080	95	5031											
PDILT	204474	broad.mit.edu	37	chr16	20386258	20386258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatcacatcatagaacaaCtctgctacttcttcctctaa	12	14	3	12	0	5	2	2	1	3	1	6	2	6	2	1	0	4	1	1	0	5	6			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:20386258C>T	ENST00000302451.4	-	5	815	c.567G>A	c.(565-567)gaG>gaA	p.E189E		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	189					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CATAGAACAACTCTGCTACTT	0.443													14	127					0	0	0	0	T	20386258	C	T	20386258	2	4	26	1	0	0	0	0	0	0	0	1	11745	564	20	4		4	PDILT	16	20386258	Silent	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	1558585	20386258	69968495	96	5032											
ERN2	10595	broad.mit.edu	37	chr16	23702254	23702254	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctcctcatggctcggtgCgtgtggaggagcagccgtgg	5	8	17	11	3	1	0	1	0	0	0	3	2	2	2	2	5	4	3	2	5	0	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:23702254C>T	ENST00000256797.4	-	22	2991	c.2823G>A	c.(2821-2823)acG>acA	p.T941T	ERN2_ENST00000457008.2_Silent_p.T841T	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	893					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGGCTCGGTGCGTGTGGAGGA	0.642													17	43					0	0	0	0	T	23702254	C	T	23702254	2	4	26	1	0	0	0	0	0	0	0	1	5276	755	27	1		1	ERN2	16	23702254	Silent	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	3315996	23702254	66652499	97	5033											
ITGAL	3683	broad.mit.edu	37	chr16	30492809	30492809	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaacagaatttgatttctCagattatgttaaacggaagg	16	12	8	5	1	1	3	1	1	1	2	2	4	1	4	0	2	2	1	0	2	7	4			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:30492809C>G	ENST00000356798.6	+	7	806	c.626C>G	c.(625-627)tCa>tGa	p.S209*	ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000358164.5_Nonsense_Mutation_p.S126*	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	209	VWFA.				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTTGATTTCTCAGATTATGTT	0.393													10	23					0	0	0	0	G	30492809	C	G	30492809	4	3	26	1	0	0	0	0	0	1	0	0	7939	838	29	2	652	2	ITGAL	16	30492809	Nonsense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	6790555	30492809	59861944	98	5034											
SALL1	6299	broad.mit.edu	37	chr16	51175040	51175040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaccgctgggttgctgaCatgggaggccccagcacttg	7	8	15	11	1	0	2	0	2	0	1	0	4	0	3	3	3	2	4	3	3	0	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:51175040C>T	ENST00000440970.1	-	2	1233	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.V365I|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	365					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGGTTGCTGACATGGGAGGCC	0.522													25	70					0	0	0	0	T	51175040	C	T	51175040	3	4	26	1	0	0	0	0	1	0	0	0	13895	478	17	4	2889	4	SALL1	16	51175040	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	20682231	51175040	39179713	99	5035											
PMFBP1	83449	broad.mit.edu	37	chr16	72170468	72170468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggcagatgtctcctccCgcagtccgtgcaggtccagc	5	9	13	14	2	1	1	0	0	1	1	5	1	4	1	4	2	2	3	4	2	0	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:72170468C>T	ENST00000537465.1	-	9	1240	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	PMFBP1_ENST00000355636.6_Missense_Mutation_p.R216Q|PMFBP1_ENST00000237353.10_Missense_Mutation_p.R361Q			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	361										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)				TGTCTCCTCCCGCAGTCCGTG	0.587													25	78					0	0	0	0	T	72170468	C	T	72170468	3	4	26	1	0	0	0	0	1	0	0	0	12206	652	23	1	2053	1	PMFBP1	16	72170468	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	20995428	72170468	18184285	100	5036											
NUP88	4927	broad.mit.edu	37	chr17	5322813	5322813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtttctcgtcagcaactgcGgcggcggcgacgaaggcaac	8	6	14	13	7	2	0	1	0	1	0	3	2	2	0	0	4	4	3	0	4	3	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:5322813G>A	ENST00000573584.1	-	1	667	c.158C>T	c.(157-159)cCg>cTg	p.P53L		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	53					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CAGCAACTGCGGCGGCGGCGA	0.597													54	48					0	0	0	0	A	5322813	G	A	5322813	3	1	26	1	0	0	0	0	1	0	0	0	10842	1116	39	1	2135	1	NUP88	17	5322813	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08		5322813	75872397	101	5037											
MIS12	79003	broad.mit.edu	37	chr17	5392615	5392616	+	Frame_Shift_Ins	INS	-	-	A																															tcttgcagaattagaagagcINSaaaaaattgttcaggccaaa																										TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:5392615_5392616insA	ENST00000381165.3	+	3	986_987	c.433_434insA	c.(433-435)aaafs	p.K145fs	MIS12_ENST00000573759.1_Frame_Shift_Ins_p.K145fs	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN	MIS12 kinetochore complex component	145					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						ATTAGAAGAGCAAAAAATTGTT	0.386													28	97	---	---	---	---					A	5392616	-	A	5392615	7	5	26	1	0	1	1	0	0	0	0	0	9663	711	25	0	435	0	MIS12	17	5392615	Frame_Shift_Ins	INS	-	TCGA-BA-A6D8-01A-31D-A31L-08	69802	5392615	75802595	102	5038											
TP53	7157	broad.mit.edu	37	chr17	7573926	7573926	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggggctgaggtcactcaCctggagtgagccctgctccc	7	7	14	13	0	2	2	2	2	0	0	3	4	3	3	3	4	2	2	3	4	1	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:7573926C>T	ENST00000420246.2	-	11	1366		c.e11+1		TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(2)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGTCACTCACCTGGAGTGAG	0.592		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	7					0	0	0	0	T	7573926	C	T	7573926	5	4	26	1	0	0	0	0	0	0	1	0	16476	521	18	4	88	4	TP53	17	7573926	Splice_Site	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	2181311	7573926	73621284	103	5039											
TP53	7157	broad.mit.edu	37	chr17	7579312	7579312	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctcagggcaactgacCgtgcaagtcacagacttggc	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs55863639		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:7579312C>G	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAACTGACCGTGCAAGTCA	0.537		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	37					0	0	0	0	G	7579312	C	G	7579312	5	3	26	1	0	0	0	0	0	0	1	0	16476	666	23	3	927	3	TP53	17	7579312	Splice_Site	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	5386	7579312	73615898	104	5040											
MYO15A	51168	broad.mit.edu	37	chr17	18022345	18022345	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgcaagaggaaggcccgCaccgtgctcaagtccacgtc	11	4	12	14	4	1	1	1	0	0	1	3	2	2	2	3	2	2	3	3	2	4	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:18022345C>T	ENST00000205890.5	+	2	569	c.231C>T	c.(229-231)cgC>cgT	p.R77R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	77	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGAAGGCCCGCACCGTGCTCA	0.617													11	8					0	0	0	0	T	18022345	C	T	18022345	2	4	26	1	0	0	0	0	0	0	0	1	10133	697	25	4		4	MYO15A	17	18022345	Silent	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	10443033	18022345	63172865	105	5041											
SGK494	124923	broad.mit.edu	37	chr17	26938788	26938788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggaaaaagacttacctCgttcatctagaagaatattc	16	10	8	7	1	2	3	1	0	1	3	4	5	2	5	1	2	1	1	1	2	8	5			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:26938788C>A	ENST00000301037.5	-	8	718	c.719G>T	c.(718-720)cGa>cTa	p.R240L	RP11-192H23.4_ENST00000534850.1_3'UTR|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA	NM_001174103.1	NP_001167574.1												p.R279Q(1)									AGACTTACCTCGTTCATCTAG	0.428													4	203					0.150653	0.150653	1	0	A	26938788	C	A	26938788	3	1	26	1	0	0	0	0	1	0	0	0	14300	884	31	3	533	3	SGK494	17	26938788	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	8916443	26938788	54256422	106	5042											
OMG	4974	broad.mit.edu	37	chr17	29622180	29622180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttgaggcatttcagaGaaattatttggcatgccact	10	15	9	7	0	1	2	1	1	0	1	1	3	1	2	1	2	1	3	1	2	2	5			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:29622180G>T	ENST00000247271.4	-	2	1431	c.1170C>A	c.(1168-1170)ttC>ttA	p.F390L	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	390					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		GCATTTCAGAGAAATTATTTG	0.428													36	213					1.836e-18	2.15074e-18	1	0	T	29622180	G	T	29622180	3	4	26	1	0	0	0	0	1	0	0	0	10937	933	33	2	156	2	OMG	17	29622180	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	2683392	29622180	51573030	107	5043											
GPR179	440435	broad.mit.edu	37	chr17	36499189	36499189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtggcctgcagggccaGctgtaggtggctggcccctg	3	7	18	13	1	0	0	0	0	0	0	0	0	0	0	5	6	2	4	5	6	1	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:36499189G>T	ENST00000342292.4	-	1	504	c.484C>A	c.(484-486)Ctg>Atg	p.L162M		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	162						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGCAGGGCCAGCTGTAGGTGG	0.647													26	65					6.36457e-07	6.86704e-07	1	0	T	36499189	G	T	36499189	3	4	26	1	0	0	0	0	1	0	0	0	6723	962	34	4	6663	4	GPR179	17	36499189	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	6877009	36499189	44696021	108	5044											
TLE2	7089	broad.mit.edu	37	chr19	3005477	3005477	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctggcggccctcccgCaggtcccagcagcgcaccgt	5	5	13	18	4	0	0	0	0	0	0	2	0	2	0	4	3	4	5	4	3	0	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:3005477C>A	ENST00000262953.6	-	17	2116	c.1854G>T	c.(1852-1854)ctG>ctT	p.L618L	TLE2_ENST00000591529.1_Silent_p.L632L|TLE2_ENST00000590536.1_Silent_p.L619L|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Silent_p.L496L|TLE2_ENST00000447365.2_Silent_p.L285L|TLE2_ENST00000443826.3_Silent_p.L496L|TLE2_ENST00000426948.2_Silent_p.L632L	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	618					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GGCCCTCCCGCAGGTCCCAGC	0.632													9	24					0.000274275	0.000284691	1	0	A	3005477	C	A	3005477	2	1	26	1	0	0	0	0	0	0	0	1	16033	697	25	4		4	TLE2	19	3005477	Silent	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08		3005477	56123506	109	5045											
HDGFRP2	84717	broad.mit.edu	37	chr19	4491567	4491567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgttccccttccagatgtCggtctcgaaacgagcccgaa	8	8	10	15	5	1	1	0	0	1	1	5	4	3	1	5	1	2	1	5	1	2	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:4491567C>T	ENST00000301284.4	+	5	558	c.494C>T	c.(493-495)tCg>tTg	p.S165L	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.S165L	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		165	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										TTCCAGATGTCGGTCTCGAAA	0.622													21	36					0	0	0	0	T	4491567	C	T	4491567	3	4	26	1	0	0	0	0	1	0	0	0	7070	893	31	1	512	1	HDGFRP2	19	4491567	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	1486090	4491567	54637416	110	5046											
C19orf66	55337	broad.mit.edu	37	chr19	10200662	10200662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttatccctgctgtggaccGgcagtttgcctgctcctcct	3	13	9	16	1	0	0	0	0	0	0	3	1	3	1	6	2	3	4	6	2	1	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:10200662G>T	ENST00000397881.3	+	5	647	c.170G>T	c.(169-171)cGg>cTg	p.R57L	CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000591813.1_Missense_Mutation_p.R108L|C19orf66_ENST00000253110.11_Missense_Mutation_p.R108L			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	108										large_intestine(3)|skin(1)	4						GCTGTGGACCGGCAGTTTGCC	0.607													6	9					2.7689e-08	3.06824e-08	1	0	T	10200662	G	T	10200662	3	4	26	1	0	0	0	0	1	0	0	0	1964	1116	39	3	341	3	C19orf66	19	10200662	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	5709095	10200662	48928321	111	5047											
NWD1	284434	broad.mit.edu	37	chr19	16860198	16860198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgcctgccgtggagccgcGacttggtgaaccccaagaac	9	5	12	15	4	0	2	0	1	0	1	0	4	0	3	6	2	4	0	6	2	3	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:16860198G>A	ENST00000524140.2	+	6	1163	c.745G>A	c.(745-747)Gac>Aac	p.D249N	NWD1_ENST00000523826.1_Missense_Mutation_p.D43N|NWD1_ENST00000379808.3_Missense_Mutation_p.D249N|NWD1_ENST00000339803.6_Missense_Mutation_p.D114N|NWD1_ENST00000552788.1_Missense_Mutation_p.D249N|NWD1_ENST00000549814.1_Missense_Mutation_p.D249N	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	249							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGGAGCCGCGACTTGGTGAA	0.602													4	77					0	0	0	0	A	16860198	G	A	16860198	3	1	26	1	0	0	0	0	1	0	0	0	10852	1058	37	1	346	1	NWD1	19	16860198	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	6659536	16860198	42268785	112	5048											
CILP2	148113	broad.mit.edu	37	chr19	19655470	19655470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggggtcctcgggccccCgggtgcgccgggaggagcgc	3	3	21	14	6	0	0	0	0	0	0	2	3	1	2	4	6	2	0	4	6	0	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:19655470C>T	ENST00000586018.1	+	8	2236	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	CILP2_ENST00000291495.4_Missense_Mutation_p.R706W			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	706						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTCGGGCCCCCGGGTGCGCCG	0.716													4	14					0	0	0	0	T	19655470	C	T	19655470	3	4	26	1	0	0	0	0	1	0	0	0	3459	643	23	1	2146	1	CILP2	19	19655470	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	2795272	19655470	39473513	113	5049											
ZNF536	9745	broad.mit.edu	37	chr19	31025786	31025786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgggagatctgccggcGtccagcaaccagcgctgctt	7	7	14	13	3	1	1	0	0	1	1	2	2	2	1	3	3	5	4	3	3	1	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:31025786G>A	ENST00000355537.3	+	3	2350	c.2203G>A	c.(2203-2205)Gtc>Atc	p.V735I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATCTGCCGGCGTCCAGCAACC	0.567													48	115					0	0	0	0	A	31025786	G	A	31025786	3	1	26	1	0	0	0	0	1	0	0	0	18069	1145	40	1	2209	1	ZNF536	19	31025786	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	11370316	31025786	28103197	114	5050											
GPATCH1	55094	broad.mit.edu	37	chr19	33617574	33617574	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagtagctccgagagttcCgacagcagcgacagccagag	12	5	13	11	3	0	2	0	0	0	2	2	5	2	2	3	0	4	5	3	0	2	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:33617574C>T	ENST00000170564.2	+	19	3014	c.2700C>T	c.(2698-2700)tcC>tcT	p.S900S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	900						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CCGAGAGTTCCGACAGCAGCG	0.483											OREG0025410	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	65					0	0	0	0	T	33617574	C	T	33617574	2	4	26	1	0	0	0	0	0	0	0	1	6639	639	23	1		1	GPATCH1	19	33617574	Silent	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	2591788	33617574	25511409	115	5051											
RYR1	6261	broad.mit.edu	37	chr19	38990452	38990452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcatccgcagggaccggcGgcgcgagcagtgagtctccc	7	4	16	14	5	1	1	0	1	1	0	3	3	2	2	3	4	1	3	3	4	0	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:38990452G>A	ENST00000355481.4	+	44	7336	c.7205G>A	c.(7204-7206)cGg>cAg	p.R2402Q	RYR1_ENST00000360985.3_Missense_Mutation_p.R2402Q|RYR1_ENST00000359596.3_Missense_Mutation_p.R2402Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2402	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGGACCGGCGGCGCGAGCAG	0.706													11	13					0	0	0	0	A	38990452	G	A	38990452	3	1	26	1	0	0	0	0	1	0	0	0	13853	1116	39	1	7379	1	RYR1	19	38990452	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	5372878	38990452	20138531	116	5052											
RYR1	6261	broad.mit.edu	37	chr19	39071027	39071027	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctggtgatgaccgtgggCcttctggcggtggtcgtcta	4	11	16	10	3	2	2	0	2	2	0	3	2	2	2	2	5	1	1	2	5	1	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:39071027C>T	ENST00000355481.4	+	100	14645	c.14514C>T	c.(14512-14514)ggC>ggT	p.G4838G	RYR1_ENST00000360985.3_Silent_p.G4838G|RYR1_ENST00000359596.3_Silent_p.G4843G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4843			L -> V (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGACCGTGGGCCTTCTGGCGG	0.627													17	25					0	0	0	0	T	39071027	C	T	39071027	2	4	26	1	0	0	0	0	0	0	0	1	13853	726	26	4		4	RYR1	19	39071027	Silent	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	80575	39071027	20057956	117	5053											
NUMBL	9253	broad.mit.edu	37	chr19	41173407	41173407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaatgtcttttgcaggtcgCcagaaaaggggttggagggt	9	10	16	6	2	1	1	0	0	1	1	2	3	1	2	1	5	1	2	1	5	3	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:41173407C>T	ENST00000252891.4	-	10	1963	c.1796G>A	c.(1795-1797)gGc>gAc	p.G599D	NUMBL_ENST00000540131.1_Missense_Mutation_p.G558D|NUMBL_ENST00000598779.1_Missense_Mutation_p.G558D	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	599					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TTGCAGGTCGCCAGAAAAGGG	0.612													3	11					0	0	0	0	T	41173407	C	T	41173407	3	4	26	1	0	0	0	0	1	0	0	0	10823	739	26	4	37	4	NUMBL	19	41173407	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	2102380	41173407	17955576	118	5054											
MED25	81857	broad.mit.edu	37	chr19	50322477	50322477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaacacagtggactgcGctcccgagtcctacgtacaa	10	9	9	13	3	1	0	1	0	0	0	3	2	3	1	2	1	4	3	2	1	4	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:50322477G>A	ENST00000312865.6	+	3	282	c.229G>A	c.(229-231)Gct>Act	p.A77T	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	77	Interaction with the Mediator complex.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		AGTGGACTGCGCTCCCGAGTC	0.552													23	41					0	0	0	0	A	50322477	G	A	50322477	3	1	26	1	0	0	0	0	1	0	0	0	9512	1087	38	1	239	1	MED25	19	50322477	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	9149070	50322477	8806506	119	5055											
ZNF578	147660	broad.mit.edu	37	chr19	53014034	53014034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catccatgccaaaaatcaaaGagttgatgggtagcacagac	16	7	9	9	0	1	3	1	1	0	2	2	3	2	3	2	1	2	3	2	1	4	2			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:53014034G>C	ENST00000421239.2	+	6	644	c.400G>C	c.(400-402)Gag>Cag	p.E134Q		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAAAATCAAAGAGTTGATGGG	0.378													53	125					0	0	0	0	C	53014034	G	C	53014034	3	2	26	1	0	0	0	0	1	0	0	0	18105	943	33	2	410	2	ZNF578	19	53014034	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	2691557	53014034	6114949	120	5056											
ZNF418	147686	broad.mit.edu	37	chr19	58438683	58438683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taaaagatttcccacattctCcacattcataaggtcttttc	12	15	3	11	0	3	1	1	0	2	1	6	1	4	1	2	1	0	0	2	1	3	7			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:58438683C>T	ENST00000396147.1	-	4	1157	c.866G>A	c.(865-867)gGa>gAa	p.G289E	ZNF418_ENST00000425570.3_Missense_Mutation_p.G310E|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.G204E|ZNF418_ENST00000595830.1_Missense_Mutation_p.G289E	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CCCACATTCTCCACATTCATA	0.433													51	114					0	0	0	0	T	58438683	C	T	58438683	3	4	26	1	0	0	0	0	1	0	0	0	17990	855	30	2	1168	2	ZNF418	19	58438683	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	5424649	58438683	690300	121	5057											
ATRN	8455	broad.mit.edu	37	chr20	3584812	3584812	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccaacattaaggagtacaAagatagtttctctaatgaga	18	10	7	6	0	1	2	0	1	1	2	2	4	1	3	1	1	3	2	1	1	7	5			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:3584812A>G	ENST00000262919.5	+	24	3772	c.3704A>G	c.(3703-3705)aAa>aGa	p.K1235R	ATRN_ENST00000446916.2_Missense_Mutation_p.K1235R	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1235					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AAGGAGTACAAAGATAGTTTC	0.363													12	17					0	0	0	0	G	3584812	A	G	3584812	3	3	26	1	0	0	0	0	1	0	0	0	1210	14	1	5	3798	5	ATRN	20	3584812	Missense_Mutation	SNP	A	TCGA-BA-A6D8-01A-31D-A31L-08		3584812	59440708	122	5058											
MYLK2	85366	broad.mit.edu	37	chr20	30408135	30408135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaggggcggggggcccGcggagggcagtgctgggccc	4	3	23	11	3	0	1	0	1	0	0	0	2	0	2	2	8	1	2	2	8	0	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:30408135G>A	ENST00000375994.2	+	2	532	c.259G>A	c.(259-261)Gcg>Acg	p.A87T	MYLK2_ENST00000375985.4_Missense_Mutation_p.A87T			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	87			A -> V (in CMH).		cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGGGGGGCCCGCGGAGGGCAG	0.682													22	30					0	0	0	0	A	30408135	G	A	30408135	3	1	26	1	0	0	0	0	1	0	0	0	10127	1087	38	1	265	1	MYLK2	20	30408135	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	26823323	30408135	32617385	123	5059											
ASXL1	171023	broad.mit.edu	37	chr20	31021616	31021616	+	Frame_Shift_Del	DEL	A	A	-																															ctgcatcctttcccgaaaagAagccccggcttgaagatcgt																										TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:31021616delA	ENST00000375687.4	+	12	2039	c.1615delA	c.(1615-1617)agfs	p.K539fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.K534fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	539					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCCCGAAAAGAAGCCCCGGCT	0.517			"F, N, Mis"		"MDS, CMML"								88	177	---	---	---	---					-	31021616	A	-	31021616	7	5	26	1	0	1	0	1	0	0	0	0	1070	247	9	0	1667	0	ASXL1	20	31021616	Frame_Shift_Del	DEL	A	TCGA-BA-A6D8-01A-31D-A31L-08	613481	31021616	32003904	124	5060											
NCOA6	23054	broad.mit.edu	37	chr20	33315172	33315172	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgggagtttcttcggccTgggattttggacttttcaac	5	16	12	8	2	2	0	1	0	1	0	4	3	2	3	1	4	1	2	1	4	1	7			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:33315172T>A	ENST00000374796.2	-	15	8609	c.6039A>T	c.(6037-6039)ccA>ccT	p.P2013P	NCOA6_ENST00000359003.2_Silent_p.P2013P			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	2013	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTCTTCGGCCTGGGATTTTGG	0.498													24	62					0	0	0	0	A	33315172	T	A	33315172	2	1	26	1	0	0	0	0	0	0	0	1	10303	1567	55	5		5	NCOA6	20	33315172	Silent	SNP	T	TCGA-BA-A6D8-01A-31D-A31L-08	2293556	33315172	29710348	125	5061											
BCAS1	8537	broad.mit.edu	37	chr20	52644945	52644945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaccttccctgcagggaCatcatcggactgccctgata	9	10	8	14	1	1	1	1	1	0	0	3	3	2	3	3	2	3	1	3	2	2	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:52644945C>G	ENST00000395961.3	-	4	875	c.709G>C	c.(709-711)Gtc>Ctc	p.V237L	BCAS1_ENST00000371440.3_Missense_Mutation_p.V237L|BCAS1_ENST00000371435.2_Missense_Mutation_p.V237L|BCAS1_ENST00000411563.1_Missense_Mutation_p.V140L	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	237						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCTGCAGGGACATCATCGGAC	0.537													74	178					0	0	0	0	G	52644945	C	G	52644945	3	3	26	1	0	0	0	0	1	0	0	0	1354	478	17	4	1081	4	BCAS1	20	52644945	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	19329773	52644945	10380575	126	5062											
MAGEB18	286514	broad.mit.edu	37	chrX	26157865	26157865	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgcagctaaagtacctgGagtaccagcaagtgcccaac	12	7	11	11	0	0	0	0	0	0	0	0	1	0	1	3	2	7	5	3	2	6	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:26157865G>T	ENST00000325250.1	+	2	950	c.763G>T	c.(763-765)Gag>Tag	p.E255*		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	255	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAAGTACCTGGAGTACCAGCA	0.473													12	7					7.93312e-07	8.50348e-07	1	0	T	26157865	G	T	26157865	4	4	26	1	0	0	0	0	0	1	0	0	9244	1175	41	2	765	2	MAGEB18	23	26157865	Nonsense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08		26157865	129112695	127	5063											
THOC2	57187	broad.mit.edu	37	chrX	122747346	122747346	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacttatttttttccttGtctttctcatttggataagg	6	23	6	6	0	2	1	1	1	2	0	4	2	3	2	1	2	0	0	1	2	2	9			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:122747346G>C	ENST00000245838.8	-	36	4612	c.4581C>G	c.(4579-4581)gaC>gaG	p.D1527E	THOC2_ENST00000491737.1_Missense_Mutation_p.D1412E|THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000355725.4_Missense_Mutation_p.D1527E	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1527	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTTTTTCCTTGTCTTTCTCAT	0.333													30	4					0	0	0	0	C	122747346	G	C	122747346	3	2	26	1	0	0	0	0	1	0	0	0	15959	1368	48	4	212	4	THOC2	23	122747346	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	96589481	122747346	32523214	128	5064											
SH2D1A	4068	broad.mit.edu	37	chrX	123480505	123480505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accaggccatggacgcagtgGctgtgtatcatggcaaaatc	11	8	12	10	1	1	0	1	0	0	0	2	1	1	1	2	4	0	4	2	4	3	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:123480505G>A	ENST00000371139.4	+	1	312	c.13G>A	c.(13-15)Gct>Act	p.A5T	SH2D1A_ENST00000360027.4_Missense_Mutation_p.A5T|SH2D1A_ENST00000470647.1_3'UTR|STAG2_ENST00000469481.1_Intron	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	5					cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGACGCAGTGGCTGTGTATCA	0.602													40	16					0	0	0	0	A	123480505	G	A	123480505	3	1	26	1	0	0	0	0	1	0	0	0	14317	1203	42	4	15	4	SH2D1A	23	123480505	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	733159	123480505	31790055	129	5065											
MAGEC1	9947	broad.mit.edu	37	chrX	140994009	140994009	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctctccagattcctgtgagCccctccttctcctccacttt	4	15	4	18	0	2	2	0	1	2	1	8	2	6	2	7	0	1	0	7	0	0	3			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:140994009C>T	ENST00000285879.4	+	4	1105	c.819C>T	c.(817-819)agC>agT	p.S273S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	273							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCCCCTCCTTCT	0.488										HNSCC(15;0.026)			71	32					0	0	0	0	T	140994009	C	T	140994009	2	4	26	1	0	0	0	0	0	0	0	1	9249	738	26	4		4	MAGEC1	23	140994009	Silent	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	17513504	140994009	14276551	130	5066											
TREX2	11219	broad.mit.edu	37	chrX	152710807	152710807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagagggacagctcggCaatctcgggctccacactgg	11	5	13	12	2	1	1	0	0	1	1	4	2	2	2	1	4	2	4	1	4	2	0			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:152710807C>T	ENST00000330912.2	-	13	1632	c.82G>A	c.(82-84)Gcc>Acc	p.A28T	TREX2_ENST00000414588.1_Missense_Mutation_p.A70T|TREX2_ENST00000338525.2_Missense_Mutation_p.A28T|TREX2_ENST00000393862.2_Missense_Mutation_p.A28T|TREX2_ENST00000370232.1_Missense_Mutation_p.A71T|TREX2_ENST00000334497.2_Missense_Mutation_p.A71T|TREX2_ENST00000402951.1_Missense_Mutation_p.A71T|TREX2_ENST00000370231.2_Missense_Mutation_p.A28T			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	71					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GACAGCTCGGCAATCTCGGGC	0.642								Editing and processing nucleases					7	2					0	0	0	0	T	152710807	C	T	152710807	3	4	26	1	0	0	0	0	1	0	0	0	16572	710	25	4	631	4	TREX2	23	152710807	Missense_Mutation	SNP	C	TCGA-BA-A6D8-01A-31D-A31L-08	11716798	152710807	2559753	131	5067											
FLNA	2316	broad.mit.edu	37	chrX	153595857	153595857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggaactgggacaggtagGtcatgacagagtgctcgtcc	9	8	16	8	1	1	2	1	1	0	1	3	4	2	4	1	5	2	2	1	5	2	1			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:153595857G>A	ENST00000422373.1	-	5	1024	c.776C>T	c.(775-777)aCc>aTc	p.T259I	FLNA_ENST00000369850.3_Missense_Mutation_p.T259I|FLNA_ENST00000344736.4_Missense_Mutation_p.T259I|FLNA_ENST00000360319.4_Missense_Mutation_p.T259I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	259	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGACAGGTAGGTCATGACAGA	0.617													45	15					0	0	0	0	A	153595857	G	A	153595857	3	1	26	1	0	0	0	0	1	0	0	0	5978	1261	44	4	7343	4	FLNA	23	153595857	Missense_Mutation	SNP	G	TCGA-BA-A6D8-01A-31D-A31L-08	885050	153595857	1674703	132	5068											
CAMTA1	23261	broad.mit.edu	37	chr1	7797432	7797432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggaattgccaggtcaCggggtcatgtgaaattagca	10	11	13	7	1	2	1	2	1	0	0	2	2	2	2	1	4	2	1	1	4	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:7797432C>T	ENST00000303635.7	+	15	3667	c.3460C>T	c.(3460-3462)Cgg>Tgg	p.R1154W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R1154W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGCCAGGTCACGGGGTCATGT	0.572			T	WWTR1	epitheliod hemangioendothelioma								27	96					0	0	0	0	T	7797432	C	T	7797432	3	4	27	1	0	0	0	0	1	0	0	0	2638	527	19	1	3518	1	CAMTA1	1	7797432	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08		7797432	241453189	1	5069											
MASP2	10747	broad.mit.edu	37	chr1	11106734	11106734	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgccaggggcccgctcCgtgtctgtgctctcctgccc	1	11	11	18	2	2	0	0	0	2	0	5	0	4	0	6	2	3	2	6	2	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:11106734C>A	ENST00000400897.3	-	3	306	c.291G>T	c.(289-291)acG>acT	p.T97T	MASP2_ENST00000400898.3_Silent_p.T97T	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	97	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGGCCCGCTCCGTGTCTGTGC	0.647													8	34					2.74318e-10	3.59207e-10	1	0	A	11106734	C	A	11106734	2	1	27	1	0	0	0	0	0	0	0	1	9392	639	23	3		3	MASP2	1	11106734	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3309302	11106734	238143887	2	5070											
UBIAD1	29914	broad.mit.edu	37	chr1	11333601	11333601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcttccatggcggcctctCaggtcctgggggagaagatt	7	9	15	10	1	1	2	1	0	1	2	4	4	3	2	3	5	1	1	3	5	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:11333601C>G	ENST00000376810.5	+	1	339	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	UBIAD1_ENST00000376804.2_Missense_Mutation_p.Q5E	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	5					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GGCGGCCTCTCAGGTCCTGGG	0.612													15	48					0	0	0	0	G	11333601	C	G	11333601	3	3	27	1	0	0	0	0	1	0	0	0	16981	827	29	2	15	2	UBIAD1	1	11333601	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	226867	11333601	237917020	3	5071											
CLCNKA	1187	broad.mit.edu	37	chr1	16351351	16351351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccctcgtctctttctcctCaggcttctcccagagcatca	5	12	7	17	1	5	1	2	0	3	1	9	1	5	1	3	2	1	2	3	2	0	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:16351351C>T	ENST00000375692.1	+	5	451	c.323C>T	c.(322-324)tCa>tTa	p.S108L	CLCNKA_ENST00000331433.4_Missense_Mutation_p.S108L|CLCNKA_ENST00000464764.1_Intron|CLCNKA_ENST00000439316.2_Intron|CLCNKA_ENST00000420078.1_Missense_Mutation_p.S108L			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	108					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCTTTCTCCTCAGGCTTCTCC	0.607													15	38					0	0	0	0	T	16351351	C	T	16351351	3	4	27	1	0	0	0	0	1	0	0	0	3499	838	29	2	333	2	CLCNKA	1	16351351	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	5017750	16351351	232899270	4	5072											
TAS1R2	80834	broad.mit.edu	37	chr1	19181196	19181196	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtccacaatggtcaccagGcgctggcgctcctctgacgt	6	10	11	14	3	2	1	1	1	1	0	4	1	4	1	3	3	0	2	3	3	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:19181196G>A	ENST00000375371.3	-	3	789	c.768C>T	c.(766-768)cgC>cgT	p.R256R	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	256					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGGTCACCAGGCGCTGGCGCT	0.637													8	23					0	0	0	0	A	19181196	G	A	19181196	2	1	27	1	0	0	0	0	0	0	0	1	15654	1190	42	4		4	TAS1R2	1	19181196	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2829845	19181196	230069425	5	5073											
TMCO4	255104	broad.mit.edu	37	chr1	20027338	20027338	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttctccctccacaggCgcacccagcaggatgacgtc	7	8	10	16	2	1	1	0	1	1	0	4	2	2	2	3	3	1	3	3	3	0	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:20027338C>A	ENST00000294543.6	-	14	1546	c.1305G>T	c.(1303-1305)gcG>gcT	p.A435A	TMCO4_ENST00000375122.2_Silent_p.A395A|TMCO4_ENST00000375127.1_Silent_p.A435A|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	435						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CCTCCACAGGCGCACCCAGCA	0.597													20	86					2.94398e-08	3.65598e-08	1	0	A	20027338	C	A	20027338	2	1	27	1	0	0	0	0	0	0	0	1	16092	755	27	3		3	TMCO4	1	20027338	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	846142	20027338	229223283	6	5074											
EIF4G3	8672	broad.mit.edu	37	chr1	21137234	21137234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgagataaacttactggCaggttgatcaagttttacta	14	13	8	6	0	1	2	1	2	0	1	1	3	1	2	0	2	3	3	0	2	6	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:21137234C>T	ENST00000602326.1	-	34	5174	c.4591G>A	c.(4591-4593)Gcc>Acc	p.A1531T	EIF4G3_ENST00000400422.1_Missense_Mutation_p.A1525T|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A1245T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A1531T|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A1129T|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A1525T|EIF4G3_ENST00000537738.1_Missense_Mutation_p.A1015T	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1525	EIF4A-binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AACTTACTGGCAGGTTGATCA	0.393													16	50					0	0	0	0	T	21137234	C	T	21137234	3	4	27	1	0	0	0	0	1	0	0	0	5076	710	25	4	192	4	EIF4G3	1	21137234	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1109896	21137234	228113387	7	5075											
HSPG2	3339	broad.mit.edu	37	chr1	22182345	22182345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaactccgccagttgcccgGgctgcactgtgagctgtggc	5	8	15	13	2	0	1	0	1	0	0	1	2	1	2	3	3	4	4	3	3	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:22182345G>A	ENST00000374695.3	-	45	5715	c.5636C>T	c.(5635-5637)cCc>cTc	p.P1879L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1879	Ig-like C2-type 4.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CAGTTGCCCGGGCTGCACTGT	0.647													10	30					0	0	0	0	A	22182345	G	A	22182345	3	1	27	1	0	0	0	0	1	0	0	0	7483	1232	43	4	7751	4	HSPG2	1	22182345	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1045111	22182345	227068276	8	5076											
EPHA8	2046	broad.mit.edu	37	chr1	22925396	22925396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagtgggtgccggcatGcgctacctctcagacctggg	7	7	16	11	2	1	2	1	0	1	2	2	3	1	3	3	4	3	2	3	4	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:22925396G>T	ENST00000166244.3	+	13	2316	c.2244G>T	c.(2242-2244)atG>atT	p.M748I		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	748	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTGCCGGCATGCGCTACCTCT	0.622													4	23					2.56e-06	2.98069e-06	1	0	T	22925396	G	T	22925396	3	4	27	1	0	0	0	0	1	0	0	0	5211	1319	46	4	2467	4	EPHA8	1	22925396	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	743051	22925396	226325225	9	5077											
HTR1D	3352	broad.mit.edu	37	chr1	23519781	23519781	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagggcagccagcagatgAtaaaggcccccagaatgatg	15	4	13	9	0	0	5	0	2	0	3	0	5	0	5	3	2	2	2	3	2	4	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:23519781A>T	ENST00000374619.1	-	1	1441	c.932T>A	c.(931-933)aTc>aAc	p.I311N	HTR1D_ENST00000314113.3_Missense_Mutation_p.I311N	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	311					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCAGCAGATGATAAAGGCCCC	0.547													25	89					0	0	0	0	T	23519781	A	T	23519781	3	4	27	1	0	0	0	0	1	0	0	0	7491	333	12	5	205	5	HTR1D	1	23519781	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	594385	23519781	225730840	10	5078											
TMEM222	84065	broad.mit.edu	37	chr1	27661903	27661903	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaagacctggctgcccttCatccttctcctgggcatcat	6	12	9	14	0	3	2	2	1	1	1	5	2	4	2	4	2	1	2	4	2	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:27661903C>T	ENST00000374076.4	+	6	611	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	191						integral to membrane	protein binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GGCTGCCCTTCATCCTTCTCC	0.642													18	101					0	0	0	0	T	27661903	C	T	27661903	2	4	27	1	0	0	0	0	0	0	0	1	16239	825	29	2		2	TMEM222	1	27661903	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	4142122	27661903	221588718	11	5079											
MAP3K6	9064	broad.mit.edu	37	chr1	27686011	27686011	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgttgatcagcacattgtcCccctgattgacagccattag	9	12	9	11	0	1	3	1	3	0	0	2	3	2	3	3	0	2	2	3	0	1	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:27686011C>A	ENST00000493901.1	-	19	2561	c.2322G>T	c.(2320-2322)ggG>ggT	p.G774G	MAP3K6_ENST00000357582.2_Silent_p.G774G|MAP3K6_ENST00000374040.3_Silent_p.G766G	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	774	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCACATTGTCCCCCTGATTGA	0.567													9	42					2.74318e-10	3.59207e-10	1	0	A	27686011	C	A	27686011	2	1	27	1	0	0	0	0	0	0	0	1	9323	610	22	4		4	MAP3K6	1	27686011	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	24108	27686011	221564610	12	5080											
WASF2	10163	broad.mit.edu	37	chr1	27736340	27736340	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccggaggaggaggaggAgggggaggaggaggtgctcc	8	2	24	7	1	0	0	0	0	0	0	1	8	1	8	3	11	1	1	3	11	0	0	rs71584884		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:27736340A>G	ENST00000430629.2	-	8	1400	c.1185T>C	c.(1183-1185)ccT>ccC	p.P395P	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	395	Poly-Pro.				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		gaggaggaggagggggaggag	0.642													4	48					0	0	0	0	G	27736340	A	G	27736340	2	3	27	1	0	0	0	0	0	0	0	1	17349	291	11	5		5	WASF2	1	27736340	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	50329	27736340	221514281	13	5081											
PHACTR4	65979	broad.mit.edu	37	chr1	28817491	28817491	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagctgatcgtcaggcagaAaaacgagaaattaaacgtcg	17	6	11	7	4	1	3	1	1	0	2	3	5	1	3	0	1	3	2	0	1	6	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:28817491A>G	ENST00000373839.3	+	11	2106	c.1845A>G	c.(1843-1845)gaA>gaG	p.E615E	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.E625E	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	615							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGGCAGAAAAACGAGAAA	0.353													13	32					0	0	0	0	G	28817491	A	G	28817491	2	3	27	1	0	0	0	0	0	0	0	1	11884	11	1	5		5	PHACTR4	1	28817491	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	1081151	28817491	220433130	14	5082											
PTPRU	10076	broad.mit.edu	37	chr1	29587162	29587162	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccacagctgctgcgtgcTggccccacctacctcatcat	6	8	7	20	1	2	0	2	0	0	0	2	0	2	0	6	1	5	3	6	1	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:29587162T>C	ENST00000323874.8	+	7	1001	c.891T>C	c.(889-891)gcT>gcC	p.A297A	PTPRU_ENST00000345512.3_Silent_p.A297A|PTPRU_ENST00000460170.2_Silent_p.A297A|PTPRU_ENST00000428026.2_Silent_p.A297A|PTPRU_ENST00000356870.3_Silent_p.A297A|PTPRU_ENST00000373779.3_Silent_p.A297A			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	297	Fibronectin type-III 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCTGCGTGCTGGCCCCACCT	0.662													16	40					0	0	0	0	C	29587162	T	C	29587162	2	2	27	1	0	0	0	0	0	0	0	1	12895	1567	55	5		5	PTPRU	1	29587162	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	769671	29587162	219663459	15	5083											
ZCCHC17	51538	broad.mit.edu	37	chr1	31811836	31811836	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaataaaagtatccctctcCatgaaggttgtcaatcaagg	15	10	8	8	0	3	2	2	1	1	1	5	2	4	2	2	2	0	2	2	2	7	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:31811836C>T	ENST00000373714.1	+	5	519	c.258C>T	c.(256-258)tcC>tcT	p.S86S	ZCCHC17_ENST00000422613.2_Silent_p.S62S|RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000344147.5_Silent_p.S86S|ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000546109.1_Silent_p.S78S			Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	86	S1 motif.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		TATCCCTCTCCATGAAGGTTG	0.348													6	26					0	0	0	0	T	31811836	C	T	31811836	2	4	27	1	0	0	0	0	0	0	0	1	17680	581	21	4		4	ZCCHC17	1	31811836	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2224674	31811836	217438785	16	5084											
CSMD2	114784	broad.mit.edu	37	chr1	34076814	34076814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttctatgtagtcgtggttgGgctcggtggagaagttcagg	6	14	16	5	2	2	1	1	0	1	1	4	2	2	1	0	5	0	4	0	5	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:34076814G>A	ENST00000373381.4	-	41	6346	c.6170C>T	c.(6169-6171)cCc>cTc	p.P2057L	CSMD2_ENST00000373388.2_Missense_Mutation_p.P156L|CSMD2_ENST00000373377.1_Missense_Mutation_p.P156L|CSMD2_ENST00000373380.1_Missense_Mutation_p.P930L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2017	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCGTGGTTGGGCTCGGTGGA	0.562													10	41					0	0	0	0	A	34076814	G	A	34076814	3	1	27	1	0	0	0	0	1	0	0	0	3977	1232	43	4	4529	4	CSMD2	1	34076814	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2264978	34076814	215173807	17	5085											
DLGAP3	58512	broad.mit.edu	37	chr1	35334214	35334214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgtgactcactctcctcgGgtagctcatagtcctccgcc	5	10	9	17	3	3	1	2	1	1	0	7	1	5	1	5	1	1	2	5	1	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:35334214G>T	ENST00000373347.1	-	9	2745	c.2477C>A	c.(2476-2478)cCc>cAc	p.P826H	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P826H			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	826					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				ACTCTCCTCGGGTAGCTCATA	0.632													8	46					5.4927e-09	6.9921e-09	1	0	T	35334214	G	T	35334214	3	4	27	1	0	0	0	0	1	0	0	0	4598	1232	43	4	478	4	DLGAP3	1	35334214	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1257400	35334214	213916407	18	5086											
CDCA8	55143	broad.mit.edu	37	chr1	38161590	38161590	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttaaagcccttggaGgaaacaaacaggccctggaa	13	10	9	9	0	1	0	0	0	1	0	1	3	1	3	2	4	3	0	2	4	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:38161590G>T	ENST00000373055.1	+	3	505	c.232G>T	c.(232-234)Gga>Tga	p.G78*	CDCA8_ENST00000327331.2_Nonsense_Mutation_p.G78*	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	78	Required for centromere localization.|Required for interaction with INCENP and BIRC5.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCCTTGGAGGAAACAAACA	0.408													5	30					0.000602214	0.00064528	1	0	T	38161590	G	T	38161590	4	4	27	1	0	0	0	0	0	1	0	0	3121	1001	35	4	242	4	CDCA8	1	38161590	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2827376	38161590	211089031	19	5087											
KDM4A	9682	broad.mit.edu	37	chr1	44128596	44128596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaatattggccggctgaGaacaatcctggacttggtgg	9	10	15	7	1	0	1	0	1	0	1	1	4	1	3	2	6	1	1	2	6	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:44128596G>T	ENST00000372396.3	+	5	595	c.461G>T	c.(460-462)aGa>aTa	p.R154I	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	154	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GGCCGGCTGAGAACAATCCTG	0.483													19	77					5.03518e-11	6.76788e-11	1	0	T	44128596	G	T	44128596	3	4	27	1	0	0	0	0	1	0	0	0	8181	942	33	2	475	2	KDM4A	1	44128596	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5967006	44128596	205122025	20	5088											
DMBX1	127343	broad.mit.edu	37	chr1	46977890	46977890	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttcgaagtagggggtccGgcccctgctgctgcagcggc	4	8	15	14	3	0	0	0	0	0	0	3	1	2	0	4	4	4	4	4	4	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:46977890G>C	ENST00000371956.4	+	4	888	c.873G>C	c.(871-873)ccG>ccC	p.P291P	DMBX1_ENST00000360032.3_Silent_p.P286P	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	291					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P291P(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TAGGGGGTCCGGCCCCTGCTG	0.657													14	36					0	0	0	0	C	46977890	G	C	46977890	2	2	27	1	0	0	0	0	0	0	0	1	4615	1103	39	3		3	DMBX1	1	46977890	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2849294	46977890	202272731	21	5089											
CYP4A11	1579	broad.mit.edu	37	chr1	47399865	47399865	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggtgatggaggctccAtcacccaggaggctgtggat	9	7	14	11	0	1	1	1	1	0	0	2	4	2	4	3	6	0	2	3	6	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:47399865A>G	ENST00000310638.4	-	8	1102	c.1071T>C	c.(1069-1071)gaT>gaC	p.D357D	CYP4A11_ENST00000371905.1_Silent_p.D357D|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000371904.4_Silent_p.D358D	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	357					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGGAGGCTCCATCACCCAGGA	0.612													10	43					0	0	0	0	G	47399865	A	G	47399865	2	3	27	1	0	0	0	0	0	0	0	1	4215	214	8	5		5	CYP4A11	1	47399865	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	421975	47399865	201850756	22	5090											
TAL1	6886	broad.mit.edu	37	chr1	47685465	47685465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggccgtgtgtttgggcgcgGgctcctccgtgtagctgtcc	1	11	17	12	4	0	0	0	0	0	0	3	0	3	0	4	3	1	4	4	3	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:47685465G>T	ENST00000371883.3	-	4	1505	c.929C>A	c.(928-930)cCc>cAc	p.P310H	TAL1_ENST00000294339.3_Missense_Mutation_p.P308H|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Missense_Mutation_p.P308H			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	308					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TTTGGGCGCGGGCTCCTCCGT	0.697			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								20	67					1.2644e-06	1.49311e-06	1	0	T	47685465	G	T	47685465	3	4	27	1	0	0	0	0	1	0	0	0	15632	1232	43	4	76	4	TAL1	1	47685465	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	285600	47685465	201565156	23	5091											
NRD1	4898	broad.mit.edu	37	chr1	52344242	52344242	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccggcctcacacaactTcctccgggtggcacagactg	7	6	10	18	3	1	1	1	0	0	1	3	1	3	1	5	3	1	1	5	3	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:52344242T>G	ENST00000354831.7	-	1	235	c.46A>C	c.(46-48)Aag>Cag	p.K16Q	NRD1_ENST00000352171.7_Missense_Mutation_p.K16Q|NRD1_ENST00000544028.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	16					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCACACAACTTCCTCCGGGTG	0.637													7	17					0	0	0	0	G	52344242	T	G	52344242	3	3	27	1	0	0	0	0	1	0	0	0	10716	1792	62	5	3745	5	NRD1	1	52344242	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	4658777	52344242	196906379	24	5092											
PRKAA2	5563	broad.mit.edu	37	chr1	57158157	57158157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggatgcacacatgaatGccaagatagccgatttcggt	11	11	11	8	2	0	2	0	1	0	1	1	4	0	3	2	2	3	2	2	2	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:57158157G>T	ENST00000371244.4	+	4	523	c.457G>T	c.(457-459)Gcc>Tcc	p.A153S		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	153	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ACACATGAATGCCAAGATAGC	0.408													20	103					8.34094e-07	9.86237e-07	1	0	T	57158157	G	T	57158157	3	4	27	1	0	0	0	0	1	0	0	0	12574	1319	46	4	471	4	PRKAA2	1	57158157	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4813915	57158157	192092464	25	5093											
LRRC7	57554	broad.mit.edu	37	chr1	70504192	70504192	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtttgaagacaggaccgcTtttccttccaaattagagac	11	11	8	11	2	0	3	0	1	0	2	2	5	2	4	4	1	0	2	4	1	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:70504192T>A	ENST00000310961.5	+	22	3004	c.2586T>A	c.(2584-2586)gcT>gcA	p.A862A	LRRC7_ENST00000035383.5_Silent_p.A857A|LRRC7_ENST00000415775.2_Silent_p.A141A			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	857						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGGACCGCTTTTCCTTCCA	0.463													27	76					0	0	0	0	A	70504192	T	A	70504192	2	1	27	1	0	0	0	0	0	0	0	1	9084	1596	56	5		5	LRRC7	1	70504192	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	13346035	70504192	178746429	26	5094											
PTGER3	5733	broad.mit.edu	37	chr1	71418708	71418708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacaatgtgcagttgccCtctgtatctgagagttctgc	7	12	10	12	0	3	1	0	1	3	1	3	2	3	1	2	0	3	4	2	0	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:71418708C>A	ENST00000356595.4	-	4	1349	c.1139G>T	c.(1138-1140)aGg>aTg	p.R380M	PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370932.2_Intron	NM_198718.1	NP_942011.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	TGcagttgccctctgtatctg	0.353													32	58					1.08312e-15	1.62824e-15	1	0	A	71418708	C	A	71418708	3	1	27	1	0	0	0	0	1	0	0	0	12824	681	24	4	146	4	PTGER3	1	71418708	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	914516	71418708	177831913	27	5095											
PTGER3	5733	broad.mit.edu	37	chr1	71437416	71437416	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactccgttctttcattaTctgttagaatagagagagaa	13	13	7	8	1	3	3	1	0	2	3	4	5	4	3	2	0	1	2	2	0	6	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:71437416T>A	ENST00000306666.5	-	4	1380	c.1169_splice	c.e4-1	p.R390_splice	PTGER3_ENST00000356595.4_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000414819.1_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370932.2_Intron	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	390					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	TCTTTCATTATCTGTTAGAAT	0.303													25	66					0	0	0	0	A	71437416	T	A	71437416	5	1	27	1	0	0	0	0	0	0	1	0	12824	1449	50	5	219	5	PTGER3	1	71437416	Splice_Site	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	18708	71437416	177813205	28	5096											
ZRANB2	9406	broad.mit.edu	37	chr1	71542499	71542499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttctttcttctaatttagCatactttggagtattacaca	10	19	5	7	0	3	0	0	0	3	0	3	1	3	1	0	1	3	3	0	1	5	10			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:71542499C>T	ENST00000370920.3	-	4	581	c.280G>A	c.(280-282)Gct>Act	p.A94T	ZRANB2_ENST00000254821.6_Missense_Mutation_p.A94T	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	94					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TCTAATTTAGCATACTTTGGA	0.299													8	45					0	0	0	0	T	71542499	C	T	71542499	3	4	27	1	0	0	0	0	1	0	0	0	18316	710	25	4	778	4	ZRANB2	1	71542499	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	105083	71542499	177708122	29	5097											
C1orf173	127254	broad.mit.edu	37	chr1	75038606	75038606	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaccctcagcctctccctCctccgatgtcgctgcctctc	3	10	5	23	2	3	0	1	0	2	0	8	1	5	0	7	0	2	1	7	0	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:75038606C>A	ENST00000326665.5	-	14	3006	c.2788G>T	c.(2788-2790)Gag>Tag	p.E930*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	930	Glu-rich.									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						GCCTCTCCCTCCTCCGATGTC	0.552													31	117					1.06801e-11	1.45696e-11	1	0	A	75038606	C	A	75038606	4	1	27	1	0	0	0	0	0	1	0	0	2033	864	30	2	1808	2	C1orf173	1	75038606	Nonsense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3496107	75038606	174212015	30	5098											
RABGGTB	5876	broad.mit.edu	37	chr1	76253192	76253192	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgaaagggcactccacAgaaggatgttattatcaagt	14	12	9	6	0	1	2	1	1	0	1	2	3	2	3	1	2	0	2	1	2	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:76253192A>G	ENST00000319942.3	+	2	85	c.14A>G	c.(13-15)cAg>cGg	p.Q5R	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000370826.3_Missense_Mutation_p.Q5R	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	5					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						GGCACTCCACAGAAGGATGTT	0.378													18	49					0	0	0	0	G	76253192	A	G	76253192	3	3	27	1	0	0	0	0	1	0	0	0	13050	188	7	5	20	5	RABGGTB	1	76253192	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	1214586	76253192	172997429	31	5099											
FUBP1	8880	broad.mit.edu	37	chr1	78414934	78414934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcagcccaggctgcactaTaatctggctgaccacctgga	10	8	9	14	0	2	1	1	1	1	0	2	2	2	2	3	3	2	3	3	3	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:78414934T>C	ENST00000370767.1	-	19	1919	c.1832A>G	c.(1831-1833)tAt>tGt	p.Y611C	FUBP1_ENST00000370768.2_Missense_Mutation_p.Y611C|FUBP1_ENST00000436586.2_Missense_Mutation_p.Y632C			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	611					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGCTGCACTATAATCTGGCTG	0.493			"F, N"		oligodendroglioma								29	58					0	0	0	0	C	78414934	T	C	78414934	3	2	27	1	0	0	0	0	1	0	0	0	6140	1406	49	5	110	5	FUBP1	1	78414934	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	2161742	78414934	170835687	32	5100											
RPF1	80135	broad.mit.edu	37	chr1	84946695	84946695	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaggctcttggcgataaGgtaaataaaatttttagctg	14	12	11	4	1	1	1	0	0	1	1	1	3	1	1	0	3	1	3	0	3	6	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:84946695G>A	ENST00000370654.5	+	2	300	c.285_splice	c.e2+1	p.K95_splice	RPF1_ENST00000370656.1_Splice_Site_p.K95_splice	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	95					rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TTGGCGATAAGGTAAATAAAA	0.289													18	52					0	0	0	0	A	84946695	G	A	84946695	5	1	27	1	0	0	0	0	0	0	1	0	13631	1014	35	4	291	4	RPF1	1	84946695	Splice_Site	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	6531761	84946695	164303926	33	5101											
COL24A1	255631	broad.mit.edu	37	chr1	86340371	86340371	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctccaacactgccagcAgttccaacatctccctgaag	10	9	6	16	0	1	1	0	1	1	0	5	1	4	1	5	0	4	3	5	0	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:86340371A>T	ENST00000370571.2	-	35	3465	c.3099T>A	c.(3097-3099)acT>acA	p.T1033T	COL24A1_ENST00000436319.1_Silent_p.T1033T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1033	Collagen-like 9.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CACTGCCAGCAGTTCCAACAT	0.463													10	16					0	0	0	0	T	86340371	A	T	86340371	2	4	27	1	0	0	0	0	0	0	0	1	3713	175	7	5		5	COL24A1	1	86340371	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	1393676	86340371	162910250	34	5102											
COL11A1	1301	broad.mit.edu	37	chr1	103363709	103363709	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtggtccatcttggcctGcagctccagggagaccttgt	6	10	13	12	0	1	1	0	0	1	1	3	2	3	1	4	4	2	2	4	4	0	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:103363709G>C	ENST00000358392.2	-	57	4627	c.4310C>G	c.(4309-4311)gCa>gGa	p.A1437G	COL11A1_ENST00000512756.1_Missense_Mutation_p.A1309G|COL11A1_ENST00000370096.3_Missense_Mutation_p.A1425G|COL11A1_ENST00000353414.4_Missense_Mutation_p.A1386G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1425	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATCTTGGCCTGCAGCTCCAGG	0.279													3	6					0	0	0	0	C	103363709	G	C	103363709	3	2	27	1	0	0	0	0	1	0	0	0	3697	1319	46	4	1190	4	COL11A1	1	103363709	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	17023338	103363709	145886912	35	5103											
KCNC4	3749	broad.mit.edu	37	chr1	110754352	110754352	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggccggcccgagaccgaTggcggcggtgtgggtagcag	5	4	22	10	5	0	1	0	0	0	1	0	3	0	1	3	7	1	2	3	7	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:110754352T>A	ENST00000369787.3	+	1	258	c.231T>A	c.(229-231)gaT>gaA	p.D77E	KCNC4_ENST00000413138.3_Missense_Mutation_p.D77E|KCNC4_ENST00000438661.2_Missense_Mutation_p.D77E	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	77					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCGAGACcgatggcggcggtg	0.721													4	16					0	0	0	0	A	110754352	T	A	110754352	3	1	27	1	0	0	0	0	1	0	0	0	8070	1461	51	5	233	5	KCNC4	1	110754352	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	7390643	110754352	138496269	36	5104											
OVGP1	5016	broad.mit.edu	37	chr1	111969254	111969254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaataacacacgagtttaTgggcagcacctggtaaggga	14	8	12	7	1	0	1	0	1	0	0	0	3	0	2	1	3	2	4	1	3	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:111969254T>C	ENST00000369732.3	-	3	120	c.65A>G	c.(64-66)cAt>cGt	p.H22R	OVGP1_ENST00000540696.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	22					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CACGAGTTTATGGGCAGCACC	0.547													5	20					0	0	0	0	C	111969254	T	C	111969254	3	2	27	1	0	0	0	0	1	0	0	0	11396	1464	51	5	2007	5	OVGP1	1	111969254	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1214902	111969254	137281367	37	5105											
AMPD1	270	broad.mit.edu	37	chr1	115222277	115222277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctcgttaagcatctgatGgacctggaacttggaggaga	11	10	12	8	1	2	2	0	1	2	1	3	6	2	5	1	4	2	2	1	4	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:115222277G>A	ENST00000369538.3	-	6	954	c.907C>T	c.(907-909)Cat>Tat	p.H303Y	AMPD1_ENST00000520113.2_Missense_Mutation_p.H307Y|AMPD1_ENST00000353928.6_Missense_Mutation_p.H274Y	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	274					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	AGCATCTGATGGACCTGGAAC	0.428													26	88					0	0	0	0	A	115222277	G	A	115222277	3	1	27	1	0	0	0	0	1	0	0	0	585	1348	47	4	1463	4	AMPD1	1	115222277	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3253023	115222277	134028344	38	5106											
AMPD1	270	broad.mit.edu	37	chr1	115231344	115231344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acactttttcagcaaagttgCgcattgcatcatcaatttct	11	15	5	10	1	4	0	3	0	1	0	4	0	4	0	0	0	3	4	0	0	2	5	rs140601541		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:115231344C>A	ENST00000369538.3	-	2	187	c.140G>T	c.(139-141)cGc>cTc	p.R47L	AMPD1_ENST00000520113.2_Missense_Mutation_p.R51L|AMPD1_ENST00000353928.6_Missense_Mutation_p.R18L	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	18					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.R18H(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	AGCAAAGTTGCGCATTGCATC	0.418													21	85					4.35082e-09	5.56174e-09	1	0	A	115231344	C	A	115231344	3	1	27	1	0	0	0	0	1	0	0	0	585	768	27	3	2246	3	AMPD1	1	115231344	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	9067	115231344	134019277	39	5107											
CSDE1	7812	broad.mit.edu	37	chr1	115268984	115268984	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgctgtccaggcctctgTttgtcactaatactaaattc	9	14	6	12	0	2	0	1	0	1	0	4	0	3	0	3	1	2	2	3	1	4	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:115268984T>C	ENST00000438362.2	-	14	2004	c.1626A>G	c.(1624-1626)aaA>aaG	p.K542K	CSDE1_ENST00000530886.1_Silent_p.K366K|CSDE1_ENST00000358528.4_Silent_p.K496K|CSDE1_ENST00000261443.5_Silent_p.K465K|CSDE1_ENST00000339438.6_Silent_p.K465K|CSDE1_ENST00000534699.1_Silent_p.K496K|CSDE1_ENST00000369530.1_Silent_p.K511K	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	496	CSD 7.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		CAGGCCTCTGTTTGTCACTAA	0.403													15	35					0	0	0	0	C	115268984	T	C	115268984	2	2	27	1	0	0	0	0	0	0	0	1	3961	1722	60	5		5	CSDE1	1	115268984	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	37640	115268984	133981637	40	5108											
SPAG17	200162	broad.mit.edu	37	chr1	118558728	118558728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacctccacaggagttaCagtttgaactgcctctggag	10	10	11	10	0	1	2	0	2	1	0	2	4	2	4	3	2	4	2	3	2	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:118558728C>A	ENST00000336338.5	-	29	4212	c.4147G>T	c.(4147-4149)Gta>Tta	p.V1383L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1383						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACAGGAGTTACAGTTTGAACT	0.453													16	34					2.48551e-13	3.54407e-13	1	0	A	118558728	C	A	118558728	3	1	27	1	0	0	0	0	1	0	0	0	15069	478	17	4	2604	4	SPAG17	1	118558728	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3289744	118558728	130691893	41	5109											
SPAG17	200162	broad.mit.edu	37	chr1	118635845	118635845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaacattaataagctgCatgctttccaaatagtgctg	12	13	9	7	0	0	0	0	0	0	0	1	1	1	1	1	1	5	4	1	1	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:118635845C>A	ENST00000336338.5	-	8	1172	c.1107G>T	c.(1105-1107)atG>atT	p.M369I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	369						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAATAAGCTGCATGCTTTCCA	0.413													12	24					2.27111e-07	2.74576e-07	1	0	A	118635845	C	A	118635845	3	1	27	1	0	0	0	0	1	0	0	0	15069	710	25	4	5728	4	SPAG17	1	118635845	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	77117	118635845	130614776	42	5110											
ADAM30	11085	broad.mit.edu	37	chr1	120437783	120437783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcacataacctagtcctgGgatattatttagacatgttg	13	13	8	7	0	0	1	0	0	0	1	1	2	1	2	2	1	2	2	2	1	6	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:120437783G>T	ENST00000369400.1	-	1	1335	c.1177C>A	c.(1177-1179)Cca>Aca	p.P393T		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	393	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCTAGTCCTGGGATATTATTT	0.413													30	92					2.65835e-16	4.0699e-16	1	0	T	120437783	G	T	120437783	3	4	27	1	0	0	0	0	1	0	0	0	248	1232	43	4	1199	4	ADAM30	1	120437783	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1801938	120437783	128812838	43	5111											
MTMR11	10903	broad.mit.edu	37	chr1	149906880	149906880	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttaggggcctcttaccTgaaaagcctgaggctctagg	9	9	13	10	0	2	2	0	2	2	0	2	2	2	2	3	5	2	2	3	5	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:149906880T>G	ENST00000439741.2	-	5	717	c.468_splice	c.e5+1	p.Q156_splice	MTMR11_ENST00000369140.3_Splice_Site_p.Q84_splice|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Splice_Site_p.Q156_splice|MTMR11_ENST00000406732.3_Splice_Site_p.Q128_splice	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	156							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCCTCTTACCTGAAAAGCCTG	0.532													9	36					0	0	0	0	G	149906880	T	G	149906880	5	3	27	1	0	0	0	0	0	0	1	0	10010	1594	55	5	1753	5	MTMR11	1	149906880	Splice_Site	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	29469097	149906880	99343741	44	5112											
PRPF3	9129	broad.mit.edu	37	chr1	150316708	150316708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacgaaggtagaagcccaCgtcagagctcagatggcaaa	14	4	11	12	2	2	3	2	0	0	3	2	4	2	3	2	2	2	3	2	2	4	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:150316708C>T	ENST00000324862.6	+	11	1662	c.1497C>T	c.(1495-1497)caC>caT	p.H499H	PRPF3_ENST00000414970.2_Silent_p.H450H|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	499					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TAGAAGCCCACGTCAGAGCTC	0.473													6	42					0	0	0	0	T	150316708	C	T	150316708	2	4	27	1	0	0	0	0	0	0	0	1	12645	535	19	1		1	PRPF3	1	150316708	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	409828	150316708	98933913	45	5113											
PRPF3	9129	broad.mit.edu	37	chr1	150318543	150318543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttcaagattgaagccaatGctgggcaactgtacctgaca	13	9	10	9	0	1	3	1	2	0	1	1	3	1	3	2	1	4	4	2	1	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:150318543G>T	ENST00000324862.6	+	13	1855	c.1690G>T	c.(1690-1692)Gct>Tct	p.A564S	PRPF3_ENST00000414970.2_Missense_Mutation_p.A515S|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	564					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TGAAGCCAATGCTGGGCAACT	0.483													59	249					1.16596e-39	1.95538e-39	1	0	T	150318543	G	T	150318543	3	4	27	1	0	0	0	0	1	0	0	0	12645	1319	46	4	1736	4	PRPF3	1	150318543	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1835	150318543	98932078	46	5114											
EFNA1	1942	broad.mit.edu	37	chr1	155106045	155106045	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtcagtggcaaaatcaGtgagtgtcagagccctgtgg	10	9	14	8	0	3	2	3	1	0	1	3	3	3	2	1	2	1	1	1	2	2	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:155106045G>A	ENST00000368407.3	+	3	972		c.e3+1		EFNA1_ENST00000368406.2_Intron|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1						angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCAAAATCAGTGAGTGTCAG	0.517													15	66					0	0	0	0	A	155106045	G	A	155106045	5	1	27	1	0	0	0	0	0	0	1	0	4986	1043	36	4	465	4	EFNA1	1	155106045	Splice_Site	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4787502	155106045	94144576	47	5115											
IQGAP3	128239	broad.mit.edu	37	chr1	156518165	156518165	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcctcccgggtcaggtgaGaggtgttgagggggcagcca	6	8	17	10	1	2	2	1	2	1	1	4	3	3	2	3	5	1	2	3	5	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:156518165G>C	ENST00000361170.2	-	18	2118	c.2108C>G	c.(2107-2109)tCt>tGt	p.S703C		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	703					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTCAGGTGAGAGGTGTTGAG	0.572													15	55					0	0	0	0	C	156518165	G	C	156518165	3	2	27	1	0	0	0	0	1	0	0	0	7869	942	33	2	2871	2	IQGAP3	1	156518165	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1412120	156518165	92732456	48	5116											
CD5L	922	broad.mit.edu	37	chr1	157805734	157805734	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caactgactgattggatgagGaccttttgctctttttctgc	7	16	9	9	0	2	3	0	3	2	0	2	5	2	5	1	2	3	1	1	2	1	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:157805734G>T	ENST00000368174.4	-	3	363	c.267C>A	c.(265-267)gtC>gtA	p.V89V		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	89	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATTGGATGAGGACCTTTTGCT	0.498													47	223					4.25531e-23	6.9577e-23	1	0	T	157805734	G	T	157805734	2	4	27	1	0	0	0	0	0	0	0	1	3056	1161	41	2		2	CD5L	1	157805734	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1287569	157805734	91444887	49	5117											
CD1A	909	broad.mit.edu	37	chr1	158225991	158225992	+	Frame_Shift_Del	DEL	AC	AC	-																															atcagcatgaaaatgacataAcacacaatcttctcagtgac																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:158225991_158225992delAC	ENST00000289429.5	+	3	1056_1057	c.523_524delAC	c.(523-525)afs	p.T175fs		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	175					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AAATGACATAACACACAATCTT	0.48													20	85	---	---	---	---					-	158225992	AC	-	158225991	7	5	27	1	0	1	0	1	0	0	0	0	3003	43	2	0	533	0	CD1A	1	158225991	Frame_Shift_Del	DEL	AC	TCGA-BA-A6DA-01A-31D-A31L-08	420257	158225991	91024630	50	5118											
CD1C	911	broad.mit.edu	37	chr1	158262662	158262662	+	Frame_Shift_Del	DEL	G	G	-																															ccaggacatcatcctctactGgggtaagactggaggttgga																								rs144494205		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:158262662delG	ENST00000368170.3	+	4	1166	c.887delG	c.(886-888)tgfs	p.W296fs		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	296	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ATCCTCTACTGGGGTAAGACT	0.522													9	45	---	---	---	---					-	158262662	G	-	158262662	7	5	27	1	0	1	0	1	0	0	0	0	3005	1357	47	0	901	0	CD1C	1	158262662	Frame_Shift_Del	DEL	G	TCGA-BA-A6DA-01A-31D-A31L-08	36671	158262662	90987959	51	5119											
OR10K1	391109	broad.mit.edu	37	chr1	158435519	158435519	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgctggacagagcccttcaTactcccatgtacttcttcct	7	13	7	14	0	2	1	1	0	1	1	4	2	4	2	3	1	4	2	3	1	2	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:158435519T>C	ENST00000289451.2	+	1	248	c.168T>C	c.(166-168)caT>caC	p.H56H		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GAGCCCTTCATACTCCCATGT	0.478													39	124					0	0	0	0	C	158435519	T	C	158435519	2	2	27	1	0	0	0	0	0	0	0	1	10984	1403	49	5		5	OR10K1	1	158435519	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	172857	158435519	90815102	52	5120											
CADM3	57863	broad.mit.edu	37	chr1	159163221	159163221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccatggcaggaattccaCagaagcccatcatcactggt	12	9	8	12	0	2	1	2	0	0	1	4	2	4	2	3	3	1	1	3	3	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:159163221C>G	ENST00000368125.4	+	4	548	c.391C>G	c.(391-393)Cag>Gag	p.Q131E	CADM3_ENST00000368124.4_Missense_Mutation_p.Q165E	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	131	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGGAATTCCACAGAAGCCCAT	0.542													13	81					0	0	0	0	G	159163221	C	G	159163221	3	3	27	1	0	0	0	0	1	0	0	0	2593	479	17	4	511	4	CADM3	1	159163221	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	727702	159163221	90087400	53	5121											
DARC	2532	broad.mit.edu	37	chr1	159175965	159175965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccctggatgaatatcCtgtgggcctggtttattttc	6	14	11	10	0	0	1	0	1	0	0	2	2	1	2	4	4	0	1	4	4	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:159175965C>T	ENST00000537147.1	+	3	1579	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	DARC_ENST00000368122.2_Silent_p.L246L|DARC_ENST00000368121.2_Silent_p.L248L			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	246					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GATGAATATCCTGTGGGCCTG	0.532													15	113					0	0	0	0	T	159175965	C	T	159175965	2	4	27	1	0	0	0	0	0	0	0	1	4273	680	24	4		4	DARC	1	159175965	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	12744	159175965	90074656	54	5122											
OR10J1	26476	broad.mit.edu	37	chr1	159410329	159410329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcactgtggtcattgtcCactacagctgtgcctccatt	7	13	7	14	0	2	0	2	0	0	0	4	0	4	0	4	1	3	1	4	1	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:159410329C>T	ENST00000423932.3	+	1	818	c.781C>T	c.(781-783)Cac>Tac	p.H261Y	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	261					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GGTCATTGTCCACTACAGCTG	0.502													20	88					0	0	0	0	T	159410329	C	T	159410329	3	4	27	1	0	0	0	0	1	0	0	0	10981	594	21	4	783	4	OR10J1	1	159410329	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	234364	159410329	89840292	55	5123											
VANGL2	57216	broad.mit.edu	37	chr1	160385889	160385889	+	Frame_Shift_Del	DEL	G	G	-																															accgctctaagagtcgagatGggggccgaggggacaagtcg																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:160385889delG	ENST00000368061.2	+	3	583	c.109delG	c.(109-111)ggfs	p.G38fs		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	38					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGTCGAGATGGGGGCCGAGG	0.642													29	66	---	---	---	---					-	160385889	G	-	160385889	7	5	27	1	0	1	0	1	0	0	0	0	17216	1348	47	0	115	0	VANGL2	1	160385889	Frame_Shift_Del	DEL	G	TCGA-BA-A6DA-01A-31D-A31L-08	975560	160385889	88864732	56	5124											
OLFML2B	25903	broad.mit.edu	37	chr1	161953526	161953526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccaggcatagagcaggCggtccttggggttgtagtct	6	11	15	9	1	1	1	0	0	1	1	3	1	3	1	2	5	1	4	2	5	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:161953526C>T	ENST00000294794.3	-	8	2615	c.2192G>A	c.(2191-2193)cGc>cAc	p.R731H	OLFML2B_ENST00000367940.2_Missense_Mutation_p.R732H|OLFML2B_ENST00000367938.1_Missense_Mutation_p.R214H	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	731	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ATAGAGCAGGCGGTCCTTGGG	0.537													40	126					0	0	0	0	T	161953526	C	T	161953526	3	4	27	1	0	0	0	0	1	0	0	0	10929	768	27	1	64	1	OLFML2B	1	161953526	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1567637	161953526	87297095	57	5125											
SELP	6403	broad.mit.edu	37	chr1	169562916	169562916	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctatcgtagaagccacCgctccaccaaagtaagtcag	14	6	8	13	2	1	2	1	0	0	2	3	2	2	2	5	0	1	3	5	0	5	3	rs140303776		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:169562916C>A	ENST00000263686.6	-	14	2371	c.2334G>T	c.(2332-2334)gcG>gcT	p.A778A	SELP_ENST00000458599.2_Silent_p.A594A|SELP_ENST00000367794.2_Silent_p.A716A|SELP_ENST00000367791.2_Silent_p.A592A|SELP_ENST00000367793.2_Silent_p.A716A|SELP_ENST00000367792.2_Silent_p.A594A|SELP_ENST00000367788.2_Silent_p.A716A|SELP_ENST00000367786.2_Silent_p.A716A	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	778					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TAGAAGCCACCGCTCCACCAA	0.438													6	24					0.0215528	0.0220103	1	0	A	169562916	C	A	169562916	2	1	27	1	0	0	0	0	0	0	0	1	14106	639	23	3		3	SELP	1	169562916	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	7609390	169562916	79687705	58	5126											
SELP	6403	broad.mit.edu	37	chr1	169578749	169578749	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgttacagtaccttgacaGactggggctggtgctgtcca	8	11	12	10	0	0	2	0	1	0	1	1	2	1	2	2	3	3	4	2	3	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:169578749G>A	ENST00000263686.6	-	8	1363	c.1326C>T	c.(1324-1326)gtC>gtT	p.V442V	SELP_ENST00000458599.2_Silent_p.V380V|SELP_ENST00000367794.2_Silent_p.V380V|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Silent_p.V380V|SELP_ENST00000367792.2_Silent_p.V380V|SELP_ENST00000367788.2_Silent_p.V380V|SELP_ENST00000367786.2_Silent_p.V380V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	442	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TACCTTGACAGACTGGGGCTG	0.488													10	38					0	0	0	0	A	169578749	G	A	169578749	2	1	27	1	0	0	0	0	0	0	0	1	14106	929	33	2		2	SELP	1	169578749	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	15833	169578749	79671872	59	5127											
KIFAP3	22920	broad.mit.edu	37	chr1	169993613	169993613	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttcaagaatgacacaacTaaaattagcagctcaaaatt	18	11	4	8	0	3	2	2	1	1	1	3	2	3	2	0	0	3	2	0	0	8	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:169993613T>A	ENST00000367765.1	-	9	2347	c.846A>T	c.(844-846)ttA>ttT	p.L282F	KIFAP3_ENST00000367767.1_Missense_Mutation_p.L278F|KIFAP3_ENST00000540905.1_Missense_Mutation_p.L24F|RP11-332H17.1_ENST00000440321.1_RNA|KIFAP3_ENST00000538366.1_Missense_Mutation_p.L244F|KIFAP3_ENST00000361580.2_Missense_Mutation_p.L322F	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	322					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGACACAACTAAAATTAGCA	0.343													11	28					0	0	0	0	A	169993613	T	A	169993613	3	1	27	1	0	0	0	0	1	0	0	0	8362	1519	53	5	1460	5	KIFAP3	1	169993613	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	414864	169993613	79257008	60	5128											
ANKRD45	339416	broad.mit.edu	37	chr1	173628228	173628228	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagagaaaaaagacaaaatAcctctggtggttttttcatt	15	13	8	5	0	2	3	1	1	1	2	2	4	2	3	1	2	1	1	1	2	6	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:173628228A>T	ENST00000333279.2	-	2	389		c.e2+1			NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45											NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						AAGACAAAATACCTCTGGTGG	0.348													14	51					0	0	0	0	T	173628228	A	T	173628228	5	4	27	1	0	0	0	0	0	0	1	0	672	405	14	5	490	5	ANKRD45	1	173628228	Splice_Site	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	3634615	173628228	75622393	61	5129											
TNN	63923	broad.mit.edu	37	chr1	175048551	175048551	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagggcagggagggcccCgcctgcgagcggctggcctg	6	3	20	12	3	0	1	0	0	0	1	0	4	0	2	4	5	2	2	4	5	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:175048551C>A	ENST00000239462.4	+	3	605	c.492C>A	c.(490-492)ccC>ccA	p.P164P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	164					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGGAGGGCCCCGCCTGCGAGC	0.721													7	12					0.00307968	0.00322431	1	0	A	175048551	C	A	175048551	2	1	27	1	0	0	0	0	0	0	0	1	16417	639	23	3		3	TNN	1	175048551	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1420323	175048551	74202070	62	5130											
PAPPA2	60676	broad.mit.edu	37	chr1	176661388	176661388	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccattccacctatggtcaTcggacagaccaacaagtccc	11	7	6	17	1	1	1	1	0	0	1	4	2	3	2	6	2	1	0	6	2	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:176661388T>C	ENST00000367662.3	+	6	3722	c.2558T>C	c.(2557-2559)aTc>aCc	p.I853T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	853					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTATGGTCATCGGACAGACC	0.527													42	146					0	0	0	0	C	176661388	T	C	176661388	3	2	27	1	0	0	0	0	1	0	0	0	11504	1435	50	5	2629	5	PAPPA2	1	176661388	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1612837	176661388	72589233	63	5131											
PAPPA2	60676	broad.mit.edu	37	chr1	176668723	176668723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacaggaagttcacggaCgtgtgagtttggtagcatga	10	11	13	7	2	2	2	2	2	1	0	3	4	2	4	0	3	1	4	0	3	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:176668723C>A	ENST00000367662.3	+	8	4398	c.3234C>A	c.(3232-3234)gaC>gaA	p.D1078E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1078					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGTTCACGGACGTGTGAGTTT	0.542													32	137					2.26627e-22	3.68572e-22	1	0	A	176668723	C	A	176668723	3	1	27	1	0	0	0	0	1	0	0	0	11504	535	19	3	3313	3	PAPPA2	1	176668723	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	7335	176668723	72581898	64	5132											
RASAL2	9462	broad.mit.edu	37	chr1	178427428	178427428	+	Frame_Shift_Del	DEL	C	C	-																															gacacatacctcttgctttgCcacgacaaaatagtactggg																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:178427428delC	ENST00000448150.3	+	14	3786	c.2968delC	c.(2968-2970)cafs	p.P990fs	RASAL2_ENST00000462775.1_Frame_Shift_Del_p.P860fs|RASAL2_ENST00000367649.3_Frame_Shift_Del_p.P1001fs	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	860					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TCTTGCTTTGCCACGACAAAA	0.547													15	52	---	---	---	---					-	178427428	C	-	178427428	7	5	27	1	0	1	0	1	0	0	0	0	13146	739	26	0	3093	0	RASAL2	1	178427428	Frame_Shift_Del	DEL	C	TCGA-BA-A6DA-01A-31D-A31L-08	1758705	178427428	70823193	65	5133											
XPR1	9213	broad.mit.edu	37	chr1	180756961	180756961	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaaacctgtgaaaaagAacttgccaaaatcaacacat	18	9	4	10	0	1	2	1	1	0	1	2	2	2	2	3	0	4	0	3	0	7	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:180756961A>T	ENST00000367590.4	+	3	392	c.194A>T	c.(193-195)gAa>gTa	p.E65V	XPR1_ENST00000367589.3_Missense_Mutation_p.E65V	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	65	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGTGAAAAAGAACTTGCCAAA	0.323													36	96					0	0	0	0	T	180756961	A	T	180756961	3	4	27	1	0	0	0	0	1	0	0	0	17547	246	9	5	204	5	XPR1	1	180756961	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	2329533	180756961	68493660	66	5134											
CFH	3075	broad.mit.edu	37	chr1	196648875	196648875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatacagtgaaagaggaGatgctgtatgcactgaatct	15	10	11	5	0	1	5	0	3	1	2	1	6	1	5	0	1	3	3	0	1	5	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:196648875G>T	ENST00000367429.4	+	6	982	c.742G>T	c.(742-744)Gat>Tat	p.D248Y	CFH_ENST00000439155.2_Missense_Mutation_p.D248Y|CFH_ENST00000359637.2_Missense_Mutation_p.D184Y	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	248	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGAAAGAGGAGATGCTGTATG	0.318													12	41					0.00136819	0.00144905	1	0	T	196648875	G	T	196648875	3	4	27	1	0	0	0	0	1	0	0	0	3312	942	33	2	764	2	CFH	1	196648875	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	15891914	196648875	52601746	67	5135											
CFH	3075	broad.mit.edu	37	chr1	196658548	196658548	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttaaaatttttattgcaAgtgaaaccttgtgattatcc	12	19	5	5	0	0	2	0	2	0	0	1	2	1	2	2	0	2	1	2	0	6	9			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:196658548A>T	ENST00000367429.4	+	8	1204		c.e8-1		CFH_ENST00000439155.2_Splice_Site|CFH_ENST00000359637.2_Splice_Site	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H						complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ttttattGCAAGTGAAACCTT	0.274													7	30					0	0	0	0	T	196658548	A	T	196658548	5	4	27	1	0	0	0	0	0	0	1	0	3312	86	3	5	993	5	CFH	1	196658548	Splice_Site	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	9673	196658548	52592073	68	5136											
CRB1	23418	broad.mit.edu	37	chr1	197390578	197390578	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctggagctgctaagtggCtacattcacttatcaattca	12	12	8	9	0	3	0	3	0	0	0	3	1	3	1	0	2	4	4	0	2	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:197390578C>A	ENST00000367400.3	+	6	1755	c.1620C>A	c.(1618-1620)ggC>ggA	p.G540G	CRB1_ENST00000543483.1_Silent_p.G239G|CRB1_ENST00000544212.1_Silent_p.G21G|CRB1_ENST00000535699.1_Silent_p.G471G|CRB1_ENST00000367399.2_Silent_p.G428G|CRB1_ENST00000538660.1_Silent_p.G540G|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	540	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCTAAGTGGCTACATTCACT	0.443													12	74					0.00316338	0.00330816	1	0	A	197390578	C	A	197390578	2	1	27	1	0	0	0	0	0	0	0	1	3878	784	28	4		4	CRB1	1	197390578	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	732030	197390578	51860043	69	5137											
PTPRC	5788	broad.mit.edu	37	chr1	198725078	198725078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcattgccagcacctaccCtgctcagaatggacaagtaa	12	8	8	13	1	2	1	2	0	0	1	2	2	2	2	3	1	4	3	3	1	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:198725078C>A	ENST00000367376.2	+	33	3854	c.3683C>A	c.(3682-3684)cCt>cAt	p.P1228H	PTPRC_ENST00000352140.3_Missense_Mutation_p.P1180H|PTPRC_ENST00000594404.1_Missense_Mutation_p.P1067H|PTPRC_ENST00000442510.2_Missense_Mutation_p.P1230H|PTPRC_ENST00000348564.6_Missense_Mutation_p.P1069H	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1228					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGCACCTACCCTGCTCAGAAT	0.328													23	37					1.85244e-09	2.38469e-09	1	0	A	198725078	C	A	198725078	3	1	27	1	0	0	0	0	1	0	0	0	12879	681	24	4	3820	4	PTPRC	1	198725078	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1334500	198725078	50525543	70	5138											
NR5A2	2494	broad.mit.edu	37	chr1	200143148	200143148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtccaggaacaagtcaatgCcgccctgctggactacacaa	12	7	9	13	1	1	0	1	0	0	0	2	2	2	2	3	2	4	1	3	2	5	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:200143148C>T	ENST00000367362.3	+	8	1682	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	NR5A2_ENST00000236914.3_Missense_Mutation_p.A433V|NR5A2_ENST00000544748.1_Missense_Mutation_p.A407V	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	479					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CAAGTCAATGCCGCCCTGCTG	0.428													4	12					0	0	0	0	T	200143148	C	T	200143148	3	4	27	1	0	0	0	0	1	0	0	0	10707	739	26	4	1466	4	NR5A2	1	200143148	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1418070	200143148	49107473	71	5139											
PTPN7	5778	broad.mit.edu	37	chr1	202127306	202127306	+	Frame_Shift_Del	DEL	A	A	-																															cgctgaagggcccagcgggtAagggggtgtccagcagtgcg																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:202127306delA	ENST00000309017.3	-	3	1334	c.561delT	c.(559-561)ctfs	p.L187fs	PTPN7_ENST00000367279.4_Frame_Shift_Del_p.L121fs|PTPN7_ENST00000308986.5_Frame_Shift_Del_p.L82fs|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000492977.1_5'UTR	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	82	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CCCAGCGGGTAAGGGGGTGTC	0.607													9	62	---	---	---	---					-	202127306	A	-	202127306	7	5	27	1	0	1	0	1	0	0	0	0	12875	349	13	0	868	0	PTPN7	1	202127306	Frame_Shift_Del	DEL	A	TCGA-BA-A6DA-01A-31D-A31L-08	1984158	202127306	47123315	72	5140											
IL19	29949	broad.mit.edu	37	chr1	207013254	207013254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctacgtggacagggtgttCaaggatcatcaggagccaaa	12	9	12	8	1	4	0	3	0	1	0	4	3	4	3	1	4	2	1	1	4	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:207013254C>T	ENST00000270218.6	+	5	1209	c.270C>T	c.(268-270)ttC>ttT	p.F90F	IL19_ENST00000340758.2_Silent_p.F128F	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	90					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			ACAGGGTGTTCAAGGATCATC	0.478													57	204					0	0	0	0	T	207013254	C	T	207013254	2	4	27	1	0	0	0	0	0	0	0	1	7702	825	29	2		2	IL19	1	207013254	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	4885948	207013254	42237367	73	5141											
CR2	1380	broad.mit.edu	37	chr1	207653332	207653332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttctaggtattgctgCaggtttgatacttcttacct	6	20	7	8	0	3	1	0	1	3	0	3	1	3	1	1	2	4	4	1	2	4	10	rs142392703	by1000genomes	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:207653332C>T	ENST00000367057.3	+	18	3311	c.3122C>T	c.(3121-3123)gCa>gTa	p.A1041V	CR2_ENST00000367059.3_Missense_Mutation_p.A920V|CR2_ENST00000367058.3_Missense_Mutation_p.A982V|CR2_ENST00000458541.2_Missense_Mutation_p.A955V	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	982					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGTATTGCTGCAGGTTTGATA	0.413													3	24					0	0	0	0	T	207653332	C	T	207653332	3	4	27	1	0	0	0	0	1	0	0	0	3872	710	25	4	3192	4	CR2	1	207653332	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	640078	207653332	41597289	74	5142											
RPS6KC1	26750	broad.mit.edu	37	chr1	213414047	213414047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttatacttgttcacaggtGgcaaactgtggtcatatatc	10	15	9	7	0	2	0	2	0	0	0	3	0	2	0	0	3	2	3	0	3	5	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:213414047G>T	ENST00000366960.3	+	11	1378	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.G398C|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.G113C|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.G198C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	410	Protein kinase 1.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	p.G410S(2)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GTTCACAGGTGGCAAACTGTG	0.308													22	77					1.87028e-06	2.1944e-06	1	0	T	213414047	G	T	213414047	3	4	27	1	0	0	0	0	1	0	0	0	13743	1348	47	4	1270	4	RPS6KC1	1	213414047	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5760715	213414047	35836574	75	5143											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220345348	220345348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgtgcgcatctgctgccaCcatggggacacagactgaga	9	7	13	12	1	1	2	0	1	1	2	1	4	1	3	2	2	3	3	2	2	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:220345348C>A	ENST00000358951.2	-	23	2576	c.2460G>T	c.(2458-2460)tgG>tgT	p.W820C		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	820					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTGCTGCCACCATGGGGACA	0.473													13	34					7.93312e-07	9.41672e-07	1	0	A	220345348	C	A	220345348	3	1	27	1	0	0	0	0	1	0	0	0	13018	508	18	4	1773	4	RAB3GAP2	1	220345348	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	6931301	220345348	28905273	76	5144											
RYR2	6262	broad.mit.edu	37	chr1	237540622	237540622	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatatccgtatatctgcaGgggaggcttgttggtggacc	8	11	13	9	1	1	0	0	0	1	0	2	2	2	2	2	5	1	4	2	5	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:237540622G>A	ENST00000366574.2	+	8	780		c.e8-1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATATCTGCAGGGGAGGCTTG	0.423													5	26					0	0	0	0	A	237540622	G	A	237540622	5	1	27	1	0	0	0	0	0	0	1	0	13854	1014	35	4	493	4	RYR2	1	237540622	Splice_Site	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	17195274	237540622	11709999	77	5145											
RYR2	6262	broad.mit.edu	37	chr1	237870370	237870370	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacactcaaatgccacatgtCatggaagtcatactgcccat	13	10	6	12	0	3	0	3	0	0	0	3	1	3	1	2	1	4	0	2	1	4	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:237870370C>G	ENST00000366574.2	+	68	10019	c.9702C>G	c.(9700-9702)gtC>gtG	p.V3234V	RYR2_ENST00000542537.1_Silent_p.V3218V|RYR2_ENST00000360064.6_Silent_p.V3232V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3234					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCCACATGTCATGGAAGTCA	0.502													20	76					0	0	0	0	G	237870370	C	G	237870370	2	3	27	1	0	0	0	0	0	0	0	1	13854	813	29	2		2	RYR2	1	237870370	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	329748	237870370	11380251	78	5146											
GREM2	64388	broad.mit.edu	37	chr1	240656401	240656401	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggacggaggtgacgcgctgGggcttgcagaaggcgcagga	9	4	20	8	4	0	2	0	1	0	1	0	5	0	5	0	7	1	4	0	7	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:240656401G>T	ENST00000318160.4	-	2	641	c.375C>A	c.(373-375)ccC>ccA	p.P125P		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	125	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TGACGCGCTGGGGCTTGCAGA	0.617													24	62					7.92952e-12	1.08659e-11	1	0	T	240656401	G	T	240656401	2	4	27	1	0	0	0	0	0	0	0	1	6812	1219	43	4		4	GREM2	1	240656401	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2786031	240656401	8594220	79	5147											
OPN3	23596	broad.mit.edu	37	chr1	241767853	241767853	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtaacgttcataggccagCacggttagggtggcaatgga	11	9	14	7	2	1	0	1	0	0	0	1	1	1	1	1	5	2	5	1	5	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:241767853C>A	ENST00000366554.2	-	2	508	c.402G>T	c.(400-402)gtG>gtT	p.V134V	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Intron	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	134					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CATAGGCCAGCACGGTTAGGG	0.507													9	38					1.12685e-05	1.27784e-05	1	0	A	241767853	C	A	241767853	2	1	27	1	0	0	0	0	0	0	0	1	10952	697	25	4		4	OPN3	1	241767853	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1111452	241767853	7482768	80	5148											
ADSS	159	broad.mit.edu	37	chr1	244574618	244574618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcatcttcaataaatCgaacatagttttgtgcatta	14	14	6	7	1	3	0	2	0	1	0	4	2	3	0	0	0	3	3	0	0	7	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:244574618C>A	ENST00000366535.3	-	12	1605	c.1289G>T	c.(1288-1290)cGa>cTa	p.R430L		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	430					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	p.R430Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TTCAATAAATCGAACATAGTT	0.318													12	36					5.50884e-06	6.29385e-06	1	0	A	244574618	C	A	244574618	3	1	27	1	0	0	0	0	1	0	0	0	347	884	31	3	89	3	ADSS	1	244574618	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2806765	244574618	4676003	81	5149											
AHCTF1	25909	broad.mit.edu	37	chr1	247040480	247040480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctcagtgtctgtaaatgGtaacttcagtaaatcttcca	11	14	7	9	0	4	0	2	0	2	0	5	0	5	0	1	1	2	4	1	1	5	5	rs147399261		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:247040480G>T	ENST00000366508.1	-	22	3026	c.2890C>A	c.(2890-2892)Cca>Aca	p.P964T	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.P929T|AHCTF1_ENST00000326225.3_Missense_Mutation_p.P938T			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	929	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCTGTAAATGGTAACTTCAGT	0.348													18	67					4.96729e-08	6.13527e-08	1	0	T	247040480	G	T	247040480	3	4	27	1	0	0	0	0	1	0	0	0	408	1261	44	4	4075	4	AHCTF1	1	247040480	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2465862	247040480	2210141	82	5150											
NLRP3	114548	broad.mit.edu	37	chr1	247608040	247608040	+	Silent	SNP	G	G	T																															agcctgcgaaagctgagcctGggcaacaatgacctgggcga																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:247608040G>T	ENST00000366497.2	+	8	3537	c.2757G>T	c.(2755-2757)ctG>ctT	p.L919L	NLRP3_ENST00000366496.2_Silent_p.L919L|NLRP3_ENST00000391827.2_Silent_p.L919L|NLRP3_ENST00000391828.3_Silent_p.L976L|NLRP3_ENST00000336119.3_Silent_p.L976L|NLRP3_ENST00000348069.2_Silent_p.L862L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	976					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGCTGAGCCTGGGCAACAATG	0.562													20	41					2.94398e-08	3.65598e-08	1	0	T	247608040	G	T	247608040	2	4	27	1	0	0	0	0	0	0	0	1	10548	1335	47	4		4	NLRP3	1	247608040	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	567560	247608040	1642581	83	5151	50	2									
NLRP3	114548	broad.mit.edu	37	chr1	247608042	247608042	+	Missense_Mutation	SNP	G	G	T																															cctgcgaaagctgagcctggGcaacaatgacctgggcgacc																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:247608042G>T	ENST00000366497.2	+	8	3539	c.2759G>T	c.(2758-2760)gGc>gTc	p.G920V	NLRP3_ENST00000366496.2_Missense_Mutation_p.G920V|NLRP3_ENST00000391827.2_Missense_Mutation_p.G920V|NLRP3_ENST00000391828.3_Missense_Mutation_p.G977V|NLRP3_ENST00000336119.3_Missense_Mutation_p.G977V|NLRP3_ENST00000348069.2_Missense_Mutation_p.G863V	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	977					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGAGCCTGGGCAACAATGAC	0.557													19	39					6.94344e-10	9.01464e-10	1	0	T	247608042	G	T	247608042	3	4	27	1	0	0	0	0	1	0	0	0	10548	1203	42	4	2960	4	NLRP3	1	247608042	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2	247608042	1642579	84	5152	50	2									
TRIM58	25893	broad.mit.edu	37	chr1	248020654	248020654	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactgcggccacagcttcTgcctcaggtgcatctccgag	6	9	12	14	2	3	0	1	0	2	0	4	2	3	1	3	3	4	2	3	3	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248020654T>A	ENST00000366481.3	+	1	154	c.106T>A	c.(106-108)Tgc>Agc	p.C36S		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	36						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCACAGCTTCTGCCTCAGGTG	0.726													4	19					0	0	0	0	A	248020654	T	A	248020654	3	1	27	1	0	0	0	0	1	0	0	0	16626	1580	55	5	108	5	TRIM58	1	248020654	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	412612	248020654	1229967	85	5153											
OR2L8	391190	broad.mit.edu	37	chr1	248112881	248112881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagcctatttgacctgcaGcacccacctcactgtagtaa	12	9	7	13	0	1	1	1	1	0	0	1	2	1	1	4	0	3	4	4	0	4	4	rs146257427		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248112881G>T	ENST00000357191.3	+	1	722	c.722G>T	c.(721-723)aGc>aTc	p.S241I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTGACCTGCAGCACCCACCTC	0.458													33	79					1.03484e-13	1.49422e-13	1	0	T	248112881	G	T	248112881	3	4	27	1	0	0	0	0	1	0	0	0	11080	971	34	4	724	4	OR2L8	1	248112881	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	92227	248112881	1137740	86	5154											
OR2L13	284521	broad.mit.edu	37	chr1	248263219	248263219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttcttctgcgatgtccCagccatgttgcttcttgcct	4	16	7	14	1	3	0	0	0	3	0	4	1	4	0	4	0	4	2	4	0	0	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248263219C>A	ENST00000366478.2	+	3	879	c.542C>A	c.(541-543)cCa>cAa	p.P181Q	OR2L13_ENST00000358120.2_Missense_Mutation_p.P181Q	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGCGATGTCCCAGCCATGTTG	0.458													28	129					2.4375e-19	3.89488e-19	1	0	A	248263219	C	A	248263219	3	1	27	1	0	0	0	0	1	0	0	0	11077	594	21	4	544	4	OR2L13	1	248263219	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	150338	248263219	987402	87	5155											
OR2T33	391195	broad.mit.edu	37	chr1	248436631	248436631	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccacaatatgggaagctCagggtaacaacagcctgcag	14	5	11	11	0	1	0	1	0	0	0	1	1	1	1	2	2	5	4	2	2	5	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248436631C>A	ENST00000318021.2	-	1	507	c.486G>T	c.(484-486)ctG>ctT	p.L162L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGGAAGCTCAGGGTAACAA	0.562													7	63					3.07112e-06	3.55317e-06	1	0	A	248436631	C	A	248436631	2	1	27	1	0	0	0	0	0	0	0	1	11095	813	29	2		2	OR2T33	1	248436631	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	173412	248436631	813990	88	5156											
OR14C36	127066	broad.mit.edu	37	chr1	248512317	248512317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagtccctacctcatgtGtcaattccctactggacagc	9	12	6	14	0	2	0	2	0	0	0	4	1	4	1	3	1	4	0	3	1	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248512317G>T	ENST00000317861.1	+	1	241	c.241G>T	c.(241-243)Gtc>Ttc	p.V81F		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TACCTCATGTGTCAATTCCCT	0.473													18	64					5.03518e-11	6.76788e-11	1	0	T	248512317	G	T	248512317	3	4	27	1	0	0	0	0	1	0	0	0	11017	1377	48	4	243	4	OR14C36	1	248512317	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	75686	248512317	738304	89	5157											
OR2T4	127074	broad.mit.edu	37	chr1	248525185	248525185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagtcaattgtctctcatGgacatggcgtacatttctgt	9	15	8	9	1	5	0	3	0	2	0	6	1	5	1	0	2	1	1	0	2	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248525185G>T	ENST00000366475.1	+	1	303	c.303G>T	c.(301-303)atG>atT	p.M101I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTCTCTCATGGACATGGCGT	0.502													28	162					9.39395e-14	1.36287e-13	1	0	T	248525185	G	T	248525185	3	4	27	1	0	0	0	0	1	0	0	0	11098	1348	47	4	305	4	OR2T4	1	248525185	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	12868	248525185	725436	90	5158											
APOB	338	broad.mit.edu	37	chr2	21233537	21233537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaaaaatgggaggttaatgGagtgaacatcttggttttta	14	13	11	3	0	1	1	0	1	1	0	1	3	1	3	0	4	1	2	0	4	6	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:21233537G>T	ENST00000233242.1	-	26	6330	c.6203C>A	c.(6202-6204)tCc>tAc	p.S2068Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2068	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGGTTAATGGAGTGAACATC	0.363													18	55					4.75885e-15	7.08402e-15	1	0	T	21233537	G	T	21233537	3	4	27	1	0	0	0	0	1	0	0	0	787	1174	41	2	7504	2	APOB	2	21233537	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08		21233537	221965836	91	5159											
ITSN2	50618	broad.mit.edu	37	chr2	24484450	24484450	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggaagttgaggtagcAgataaagaaactgtaggagg	16	7	15	3	0	1	4	1	1	0	3	1	6	1	6	0	4	2	4	0	4	6	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:24484450A>T	ENST00000355123.4	-	21	2960	c.2517T>A	c.(2515-2517)tcT>tcA	p.S839S	ITSN2_ENST00000406921.3_Silent_p.S839S|ITSN2_ENST00000361999.3_Silent_p.S812S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	839					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGAGGTAGCAGATAAAGAAA	0.348													18	70					0	0	0	0	T	24484450	A	T	24484450	2	4	27	1	0	0	0	0	0	0	0	1	7980	175	7	5		5	ITSN2	2	24484450	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	3250913	24484450	218714923	92	5160											
C2orf53	339779	broad.mit.edu	37	chr2	27360866	27360866	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccagtggttggagggagagGatgcacgtggacgggggaga	9	5	22	5	2	0	2	0	0	0	2	0	7	0	5	1	7	1	2	1	7	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:27360866G>C	ENST00000335524.3	-	3	857	c.332C>G	c.(331-333)tCc>tGc	p.S111C		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	111	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ggagggagaggatgcacgtgg	0.562													9	18					0	0	0	0	C	27360866	G	C	27360866	3	2	27	1	0	0	0	0	1	0	0	0	2194	1174	41	2	910	2	C2orf53	2	27360866	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2876416	27360866	215838507	93	5161											
C2orf16	84226	broad.mit.edu	37	chr2	27800270	27800270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattactttacagaagctatGgggttgaccgctgaggcaag	11	10	12	8	1	0	3	0	2	0	1	0	3	0	3	1	3	3	4	1	3	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:27800270G>A	ENST00000408964.2	+	1	882	c.831G>A	c.(829-831)atG>atA	p.M277I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	277										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGAAGCTATGGGGTTGACCG	0.463													22	106					0	0	0	0	A	27800270	G	A	27800270	3	1	27	1	0	0	0	0	1	0	0	0	2177	1348	47	4	833	4	C2orf16	2	27800270	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	439404	27800270	215399103	94	5162											
NLRC4	58484	broad.mit.edu	37	chr2	32474837	32474837	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aactgaggcttccagccacaCcagcacatctctttatttgc	10	11	6	14	0	1	1	0	1	1	0	3	1	2	1	3	1	4	2	3	1	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:32474837C>A	ENST00000404025.2	-	5	2584	c.2096G>T	c.(2095-2097)gGt>gTt	p.G699V	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.G699V|NLRC4_ENST00000360906.5_Missense_Mutation_p.G699V			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	699					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCAGCCACACCAGCACATCT	0.473													29	82					2.4375e-19	3.89488e-19	1	0	A	32474837	C	A	32474837	3	1	27	1	0	0	0	0	1	0	0	0	10539	507	18	4	1002	4	NLRC4	2	32474837	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	4674567	32474837	210724536	95	5163											
BIRC6	57448	broad.mit.edu	37	chr2	32832521	32832521	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttcctttattctttaGgtgttggtgtctgtccagtc	3	22	8	8	0	3	0	0	0	3	0	6	0	5	0	2	2	0	1	2	2	2	9			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:32832521G>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTATTCTTTAGGTGTTGGTGT	0.403													18	104					5.35267e-07	6.39521e-07	1	0	T	32832521	G	T	32832521	5	4	27	1	0	0	0	0	0	0	1	0	1443	1014	35	4	14356	4	BIRC6	2	32832521	Splice_Site	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	357684	32832521	210366852	96	5164											
PREPL	9581	broad.mit.edu	37	chr2	44586752	44586752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattctattgtaacaatgatCagcgaagttatagtgattca	14	15	7	5	1	3	2	2	2	1	0	3	3	3	2	0	0	2	2	0	0	7	8			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:44586752C>A	ENST00000409936.1	-	2	540	c.103G>T	c.(103-105)Gat>Tat	p.D35Y	PREPL_ENST00000378520.3_Missense_Mutation_p.D35Y|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000409272.1_Missense_Mutation_p.D35Y|PREPL_ENST00000378511.3_Missense_Mutation_p.D35Y|PREPL_ENST00000410081.1_Missense_Mutation_p.D35Y|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000260648.6_Missense_Mutation_p.D35Y	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	35					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TAACAATGATCAGCGAAGTTA	0.353													17	71					3.41278e-10	4.45612e-10	1	0	A	44586752	C	A	44586752	3	1	27	1	0	0	0	0	1	0	0	0	12555	826	29	2	2136	2	PREPL	2	44586752	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	11754231	44586752	198612621	97	5165											
EPAS1	2034	broad.mit.edu	37	chr2	46574115	46574115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcccatgagctgcctctgCcccacagtgtgagctcccat	6	9	10	16	0	1	2	0	2	1	0	2	2	2	2	5	1	4	2	5	1	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:46574115C>T	ENST00000263734.3	+	2	640	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	44	Helix-loop-helix motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCTGCCTCTGCCCCACAGTGT	0.612													29	107					0	0	0	0	T	46574115	C	T	46574115	3	4	27	1	0	0	0	0	1	0	0	0	5188	739	26	4	136	4	EPAS1	2	46574115	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1987363	46574115	196625258	98	5166											
FSHR	2492	broad.mit.edu	37	chr2	49190545	49190545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccagctgcatggcatgcGtgatggtatgccatctttcc	7	12	11	11	1	1	1	0	1	1	0	3	1	3	1	3	2	4	4	3	2	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:49190545G>C	ENST00000406846.2	-	10	1534	c.1415C>G	c.(1414-1416)aCg>aGg	p.T472R	FSHR_ENST00000346173.3_Missense_Mutation_p.T410R|FSHR_ENST00000541117.1_Missense_Mutation_p.T208R|FSHR_ENST00000304421.4_Missense_Mutation_p.T446R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	472					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.T472K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CATGGCATGCGTGATGGTATG	0.542									Gonadal Dysgenesis, 46 XX				7	31					0	0	0	0	C	49190545	G	C	49190545	3	2	27	1	0	0	0	0	1	0	0	0	6121	1145	40	3	676	3	FSHR	2	49190545	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2616430	49190545	194008828	99	5167											
AHSA2	130872	broad.mit.edu	37	chr2	61411929	61411929	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaaactgagtgggaatacCctgcaggtatgagctctgtt	12	10	12	7	0	1	3	0	2	1	1	1	4	1	4	1	2	4	4	1	2	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:61411929C>A	ENST00000394457.2	+	3	1812	c.69C>A	c.(67-69)acC>acA	p.T23T	AHSA2_ENST00000410073.1_Silent_p.T23T|AHSA2_ENST00000357022.2_Silent_p.T23T|AHSA2_ENST00000489653.1_3'UTR	NM_152392.3	NP_689605.1	Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)	185					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			GTGGGAATACCCTGCAGGTAT	0.453													9	42					4.84862e-15	7.20591e-15	1	0	A	61411929	C	A	61411929	2	1	27	1	0	0	0	0	0	0	0	1	419	610	22	4		4	AHSA2	2	61411929	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	12221384	61411929	181787444	100	5168											
USP34	9736	broad.mit.edu	37	chr2	61577807	61577807	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaggaaataagtcatgtaTataccgactacaatgtttca	16	12	7	6	1	2	1	2	1	0	0	2	3	2	2	1	1	2	2	1	1	8	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:61577807T>C	ENST00000398571.2	-	11	1349	c.1273A>G	c.(1273-1275)Ata>Gta	p.I425V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	425					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAGTCATGTATATACCGACTA	0.348													9	59					0	0	0	0	C	61577807	T	C	61577807	3	2	27	1	0	0	0	0	1	0	0	0	17161	1406	49	5	9647	5	USP34	2	61577807	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	165878	61577807	181621566	101	5169											
ATP6V1B1	525	broad.mit.edu	37	chr2	71185208	71185208	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggagatcgtccacttcacCctcccagatgggactcagag	9	7	11	14	2	2	3	2	0	0	3	5	5	4	4	3	2	0	0	3	2	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:71185208C>A	ENST00000234396.4	+	3	280	c.207C>A	c.(205-207)acC>acA	p.T69T	ATP6V1B1_ENST00000412314.1_Silent_p.T69T|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	69					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TCCACTTCACCCTCCCAGATG	0.592													6	34					5.18039e-06	5.95582e-06	1	0	A	71185208	C	A	71185208	2	1	27	1	0	0	0	0	0	0	0	1	1182	610	22	4		4	ATP6V1B1	2	71185208	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	9607401	71185208	172014165	102	5170											
DYSF	8291	broad.mit.edu	37	chr2	71801373	71801373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggctgggagtacgcctctCtttttggctggaagttccac	6	12	13	10	1	1	0	0	0	1	0	3	2	2	2	2	4	1	4	2	4	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:71801373C>G	ENST00000258104.3	+	30	3497	c.3220C>G	c.(3220-3222)Ctt>Gtt	p.L1074V	DYSF_ENST00000394120.2_Missense_Mutation_p.L1075V|DYSF_ENST00000409366.1_Missense_Mutation_p.L1075V|DYSF_ENST00000429174.2_Missense_Mutation_p.L1074V|DYSF_ENST00000410020.3_Missense_Mutation_p.L1092V|DYSF_ENST00000410041.1_Missense_Mutation_p.L1092V|DYSF_ENST00000409744.1_Missense_Mutation_p.L1061V|DYSF_ENST00000409762.1_Missense_Mutation_p.L1091V|DYSF_ENST00000409651.1_Missense_Mutation_p.L1106V|DYSF_ENST00000409582.3_Missense_Mutation_p.L1091V|DYSF_ENST00000413539.2_Missense_Mutation_p.L1105V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1074	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTACGCCTCTCTTTTTGGCTG	0.667													39	142					0	0	0	0	G	71801373	C	G	71801373	3	3	27	1	0	0	0	0	1	0	0	0	4895	913	32	2	3530	2	DYSF	2	71801373	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	616165	71801373	171398000	103	5171											
ALMS1	7840	broad.mit.edu	37	chr2	73716882	73716882	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacatccacaactagataGacacccttgtgctttcagat	13	11	6	11	0	1	4	1	1	0	3	2	4	2	4	2	0	3	1	2	0	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:73716882G>T	ENST00000264448.6	+	10	7904	c.7793G>T	c.(7792-7794)aGa>aTa	p.R2598I	ALMS1_ENST00000409009.1_Missense_Mutation_p.R2556I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2598					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.R2598I(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAACTAGATAGACACCCTTGT	0.468													23	67					1.55795e-14	2.29671e-14	1	0	T	73716882	G	T	73716882	3	4	27	1	0	0	0	0	1	0	0	0	535	942	33	2	7831	2	ALMS1	2	73716882	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1915509	73716882	169482491	104	5172											
ALMS1	7840	broad.mit.edu	37	chr2	73717083	73717083	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgaattcaaaatcagcaAaggtcttcgaatgccattcg	14	11	8	8	2	3	2	2	2	1	0	5	3	3	2	1	1	2	1	1	1	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:73717083A>T	ENST00000264448.6	+	10	8105	c.7994A>T	c.(7993-7995)aAa>aTa	p.K2665I	ALMS1_ENST00000409009.1_Missense_Mutation_p.K2623I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2665					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAAATCAGCAAAGGTCTTCGA	0.383													35	137					0	0	0	0	T	73717083	A	T	73717083	3	4	27	1	0	0	0	0	1	0	0	0	535	14	1	5	8032	5	ALMS1	2	73717083	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	201	73717083	169482290	105	5173											
WDR54	84058	broad.mit.edu	37	chr2	74649491	74649491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggagtgagtcccccaCttatcactcaggtgaggcat	8	10	12	11	0	2	2	2	2	0	0	3	3	3	3	2	3	1	2	2	3	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:74649491C>G	ENST00000348227.4	+	2	299	c.211C>G	c.(211-213)Ctt>Gtt	p.L71V	WDR54_ENST00000409791.1_Intron|WDR54_ENST00000461531.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	71										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GAGTCCCCCACTTATCACTCA	0.597													7	22					0	0	0	0	G	74649491	C	G	74649491	3	3	27	1	0	0	0	0	1	0	0	0	17402	565	20	4	213	4	WDR54	2	74649491	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	932408	74649491	168549882	106	5174											
SUCLG1	8802	broad.mit.edu	37	chr2	84652636	84652636	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttagctccaccttttcctCcagcaataattgccccggca	8	12	5	16	1	0	0	0	0	0	0	3	0	3	0	6	1	3	3	6	1	3	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:84652636C>A	ENST00000393868.2	-	8	1127	c.917G>T	c.(916-918)gGa>gTa	p.G306V	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	306					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	ACCTTTTCCTCCAGCAATAAT	0.502													37	132					1.04594e-18	1.65396e-18	1	0	A	84652636	C	A	84652636	3	1	27	1	0	0	0	0	1	0	0	0	15454	855	30	2	131	2	SUCLG1	2	84652636	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	10003145	84652636	158546737	107	5175											
KRCC1	51315	broad.mit.edu	37	chr2	88327946	88327946	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaattaacctctcctttgTacccacaggtttccaaatag	11	13	6	11	0	1	0	0	0	1	0	3	1	2	1	4	2	2	2	4	2	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:88327946T>C	ENST00000347055.3	-	4	530	c.137A>G	c.(136-138)tAc>tGc	p.Y46C		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	46										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						CTCTCCTTTGTACCCACAGGT	0.413													21	36					0	0	0	0	C	88327946	T	C	88327946	3	2	27	1	0	0	0	0	1	0	0	0	8493	1638	57	5	646	5	KRCC1	2	88327946	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	3675310	88327946	154871427	108	5176											
CNGA3	1261	broad.mit.edu	37	chr2	98986450	98986450	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagaagatggccaagatCaacacccaatactcccaccc	15	4	6	16	1	1	3	1	0	0	3	2	4	2	3	5	1	2	0	5	1	5	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:98986450C>A	ENST00000393504.1	+	2	429	c.12C>A	c.(10-12)atC>atA	p.I4I	CNGA3_ENST00000272602.2_Silent_p.I4I|CNGA3_ENST00000436404.2_Silent_p.I4I	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	4					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGGCCAAGATCAACACCCAAT	0.502													8	24					1.12685e-05	1.27784e-05	1	0	A	98986450	C	A	98986450	2	1	27	1	0	0	0	0	0	0	0	1	3628	816	29	2		2	CNGA3	2	98986450	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	10658504	98986450	144212923	109	5177											
AFF3	3899	broad.mit.edu	37	chr2	100623460	100623460	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaccatctccaagcaaggtCctgagagagccctgttgtgc	10	8	10	13	0	1	2	0	1	1	1	3	3	2	2	4	1	3	2	4	1	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:100623460C>A	ENST00000317233.4	-	6	742	c.507G>T	c.(505-507)agG>agT	p.R169S	AFF3_ENST00000356421.2_Missense_Mutation_p.R194S|AFF3_ENST00000409236.1_Missense_Mutation_p.R169S|AFF3_ENST00000409579.1_Missense_Mutation_p.R194S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	169					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CAAGCAAGGTCCTGAGAGAGC	0.522													16	48					2.32078e-09	2.97921e-09	1	0	A	100623460	C	A	100623460	3	1	27	1	0	0	0	0	1	0	0	0	358	854	30	2	3249	2	AFF3	2	100623460	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1637010	100623460	142575913	110	5178											
CHST10	9486	broad.mit.edu	37	chr2	101012074	101012074	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcaatggaagaaaatgCtcctgggaagtaaacggaaa	16	7	10	8	1	1	1	1	0	0	1	3	4	3	4	2	3	2	2	2	3	8	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:101012074C>G	ENST00000264249.3	-	6	815	c.430G>C	c.(430-432)Gca>Cca	p.A144P	CHST10_ENST00000409701.1_Missense_Mutation_p.A144P|CHST10_ENST00000542617.1_Missense_Mutation_p.A192P	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	144					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GAAGAAAATGCTCCTGGGAAG	0.517													7	26					0	0	0	0	G	101012074	C	G	101012074	3	3	27	1	0	0	0	0	1	0	0	0	3427	797	28	4	648	4	CHST10	2	101012074	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	388614	101012074	142187299	111	5179											
POU3F3	5455	broad.mit.edu	37	chr2	105473259	105473259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acttcctcaagtgccccaagCcctccgcgcaggagatcacc	9	6	8	18	2	2	1	2	0	0	1	4	2	4	1	6	1	2	1	6	1	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:105473259C>A	ENST00000361360.2	+	1	1291	c.1291C>A	c.(1291-1293)Ccc>Acc	p.P431T	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	431					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTGCCCCAAGCCCTCCGCGCA	0.642													13	29					0.00136819	0.00144905	1	0	A	105473259	C	A	105473259	3	1	27	1	0	0	0	0	1	0	0	0	12347	739	26	4	1293	4	POU3F3	2	105473259	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	4461185	105473259	137726114	112	5180											
SULT1C3	442038	broad.mit.edu	37	chr2	108869876	108869876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacatctgattccaccatCtatctggaaagaaaactgca	14	11	5	11	0	4	2	1	1	3	1	5	3	5	3	2	1	2	1	2	1	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:108869876C>T	ENST00000376700.1	+	3	377	c.377C>T	c.(376-378)tCt>tTt	p.S126F	SULT1C3_ENST00000329106.2_Missense_Mutation_p.S126F			Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	126						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ATTCCACCATCTATCTGGAAA	0.343													13	32					0	0	0	0	T	108869876	C	T	108869876	3	4	27	1	0	0	0	0	1	0	0	0	15468	913	32	2	387	2	SULT1C3	2	108869876	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3396617	108869876	134329497	113	5181											
DPP10	57628	broad.mit.edu	37	chr2	116599822	116599822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcataacgtatctgagaaGagcaagtatcatctctacag	14	10	9	8	1	4	2	2	1	2	2	5	3	4	2	0	1	3	3	0	1	6	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:116599822G>C	ENST00000410059.1	+	26	2772	c.2292G>C	c.(2290-2292)aaG>aaC	p.K764N	DPP10_ENST00000310323.8_Missense_Mutation_p.K757N|DPP10_ENST00000393147.2_Missense_Mutation_p.K768N|DPP10_ENST00000409163.1_Missense_Mutation_p.K714N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	764					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TATCTGAGAAGAGCAAGTATC	0.368													6	27					0	0	0	0	C	116599822	G	C	116599822	3	2	27	1	0	0	0	0	1	0	0	0	4763	933	33	2	2565	2	DPP10	2	116599822	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	7729946	116599822	126599551	114	5182											
SCTR	6344	broad.mit.edu	37	chr2	120204415	120204415	+	Missense_Mutation	SNP	G	G	C																															gaaggcgaagacgatgtagtGgatgccaaagagggggatca																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:120204415G>C	ENST00000019103.5	-	11	1327	c.1060C>G	c.(1060-1062)Cac>Gac	p.H354D		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	354					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	ACGATGTAGTGGATGCCAAAG	0.582													20	106					0	0	0	0	C	120204415	G	C	120204415	3	2	27	1	0	0	0	0	1	0	0	0	14030	1348	47	4	274	4	SCTR	2	120204415	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3604593	120204415	122994958	115	5183	51	2									
SCTR	6344	broad.mit.edu	37	chr2	120204416	120204416	+	Silent	SNP	G	G	T																															aaggcgaagacgatgtagtgGatgccaaagagggggatcag																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:120204416G>T	ENST00000019103.5	-	11	1326	c.1059C>A	c.(1057-1059)atC>atA	p.I353I		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	353					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CGATGTAGTGGATGCCAAAGA	0.577													21	106					2.89027e-11	3.90207e-11	1	0	T	120204416	G	T	120204416	2	4	27	1	0	0	0	0	0	0	0	1	14030	1164	41	2		2	SCTR	2	120204416	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1	120204416	122994957	116	5184	51	2									
RAB3GAP1	22930	broad.mit.edu	37	chr2	135848650	135848650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttctcagtcactcatcattAtcttgtacaagagtccactg	10	14	6	11	0	5	1	4	0	2	1	7	1	6	1	1	0	1	2	1	0	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:135848650A>G	ENST00000264158.8	+	4	276	c.233A>G	c.(232-234)tAt>tGt	p.Y78C	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.Y78C|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.Y34C	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	78						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACTCATCATTATCTTGTACAA	0.333													10	47					0	0	0	0	G	135848650	A	G	135848650	3	3	27	1	0	0	0	0	1	0	0	0	13017	449	16	5	247	5	RAB3GAP1	2	135848650	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	15644234	135848650	107350723	117	5185											
LRP1B	53353	broad.mit.edu	37	chr2	140995762	140995762	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggatctaaaagacctcCatcgttgtgatcatgatcta	12	11	8	10	1	3	3	1	2	2	1	5	4	4	4	3	1	0	1	3	1	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:140995762C>A	ENST00000389484.3	-	89	14490	c.13519G>T	c.(13519-13521)Gga>Tga	p.G4507*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4507					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAAGACCTCCATCGTTGTGA	0.363										TSP Lung(27;0.18)			19	48					2.37509e-13	3.40256e-13	1	0	A	140995762	C	A	140995762	4	1	27	1	0	0	0	0	0	1	0	0	9019	603	21	4	292	4	LRP1B	2	140995762	Nonsense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	5147112	140995762	102203611	118	5186											
CACNB4	785	broad.mit.edu	37	chr2	152728961	152728961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagttgctcggaatgtccCagataccatttctccaagac	10	10	10	11	1	1	2	0	0	1	2	4	4	2	4	3	2	2	2	3	2	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:152728961C>A	ENST00000360283.6	-	5	723	c.466G>T	c.(466-468)Ggg>Tgg	p.G156W	CACNB4_ENST00000534999.1_Missense_Mutation_p.G156W|CACNB4_ENST00000539935.1_Missense_Mutation_p.G190W|CACNB4_ENST00000397327.2_Missense_Mutation_p.G143W|CACNB4_ENST00000427385.1_Missense_Mutation_p.G172W|CACNB4_ENST00000201943.5_Missense_Mutation_p.G190W			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	190					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CGGAATGTCCCAGATACCATT	0.368													19	71					4.35082e-09	5.56174e-09	1	0	A	152728961	C	A	152728961	3	1	27	1	0	0	0	0	1	0	0	0	2580	594	21	4	1030	4	CACNB4	2	152728961	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	11733199	152728961	90470412	119	5187											
KCNJ3	3760	broad.mit.edu	37	chr2	155711349	155711349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttaaagttgattactccCagttccatgcaacatttgaa	12	15	5	9	0	1	2	0	2	1	0	3	2	3	2	2	0	3	3	2	0	5	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:155711349C>A	ENST00000295101.2	+	3	1507	c.1030C>A	c.(1030-1032)Cag>Aag	p.Q344K	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	344					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TGATTACTCCCAGTTCCATGC	0.423													22	48					5.26018e-13	7.43092e-13	1	0	A	155711349	C	A	155711349	3	1	27	1	0	0	0	0	1	0	0	0	8105	595	21	4	1040	4	KCNJ3	2	155711349	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2982388	155711349	87488024	120	5188											
ACVR1C	130399	broad.mit.edu	37	chr2	158443803	158443803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacttgagcattcagttctGgaagggagacacaggatttg	12	10	13	6	0	2	3	1	1	1	2	2	6	2	5	0	3	1	2	0	3	1	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:158443803G>A	ENST00000243349.7	-	2	560	c.200C>T	c.(199-201)cCa>cTa	p.P67L	ACVR1C_ENST00000348328.5_Missense_Mutation_p.P67L|ACVR1C_ENST00000335450.7_Missense_Mutation_p.P67L|ACVR1C_ENST00000409680.3_Missense_Mutation_p.P17L	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	67					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATTCAGTTCTGGAAGGGAGAC	0.433													65	182					0	0	0	0	A	158443803	G	A	158443803	3	1	27	1	0	0	0	0	1	0	0	0	222	1348	47	4	1313	4	ACVR1C	2	158443803	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2732454	158443803	84755570	121	5189											
KCNH7	90134	broad.mit.edu	37	chr2	163236421	163236421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacttccccgtaggtgaggtCgctttcggtttcagagatac	7	12	11	11	3	1	2	1	1	0	1	4	3	2	2	2	3	1	3	2	3	2	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:163236421C>G	ENST00000332142.5	-	14	3172	c.3073G>C	c.(3073-3075)Gac>Cac	p.D1025H		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1025					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.D1025H(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TAGGTGAGGTCGCTTTCGGTT	0.517													32	109					0	0	0	0	G	163236421	C	G	163236421	3	3	27	1	0	0	0	0	1	0	0	0	8090	884	31	3	529	3	KCNH7	2	163236421	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	4792618	163236421	79962952	122	5190											
CIR1	9541	broad.mit.edu	37	chr2	175246483	175246483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaattaaggccattctttaCacgttcatctcccataagca	13	12	5	11	1	3	0	1	0	2	0	4	1	3	0	2	1	2	2	2	1	4	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:175246483C>A	ENST00000342016.3	-	3	282	c.190G>T	c.(190-192)Gta>Tta	p.V64L	CIR1_ENST00000362053.5_Missense_Mutation_p.V64L	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	64	Interaction with RBPJ.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						CCATTCTTTACACGTTCATCT	0.323													57	198					3.53049e-34	5.91001e-34	1	0	A	175246483	C	A	175246483	3	1	27	1	0	0	0	0	1	0	0	0	3461	478	17	4	1194	4	CIR1	2	175246483	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	12010062	175246483	67952890	123	5191											
HOXD3	3232	broad.mit.edu	37	chr2	177034365	177034365	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagaactccaagcagaagAacagctgtgccactgcaggt	14	5	11	11	0	0	3	0	0	0	3	1	4	1	3	2	1	6	3	2	1	4	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:177034365A>T	ENST00000468418.3	+	3	2613	c.523A>T	c.(523-525)Aac>Tac	p.N175Y	HOXD3_ENST00000410016.1_Missense_Mutation_p.N175Y|HOXD3_ENST00000249440.3_Missense_Mutation_p.N175Y			P31249	HXD3_HUMAN	homeobox D3	175					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CAAGCAGAAGAACAGCTGTGC	0.562													33	85					0	0	0	0	T	177034365	A	T	177034365	3	4	27	1	0	0	0	0	1	0	0	0	7373	246	9	5	525	5	HOXD3	2	177034365	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	1787882	177034365	66165008	124	5192											
AGPS	8540	broad.mit.edu	37	chr2	178285020	178285020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagttatgaaatggaatgGatggggatataatgattcta	16	12	12	1	0	1	3	0	2	1	1	1	6	1	6	0	4	0	1	0	4	7	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:178285020G>T	ENST00000264167.4	+	2	430	c.284G>T	c.(283-285)gGa>gTa	p.G95V	AGPS_ENST00000409888.1_Missense_Mutation_p.G95V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	95					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AAATGGAATGGATGGGGATAT	0.318													18	58					1.22574e-08	1.54741e-08	1	0	T	178285020	G	T	178285020	3	4	27	1	0	0	0	0	1	0	0	0	394	1174	41	2	290	2	AGPS	2	178285020	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1250655	178285020	64914353	125	5193											
TTN	7273	broad.mit.edu	37	chr2	179431010	179431010	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcgttggacgaccttTgaatggaatgtgaattctgg	9	12	13	7	2	2	2	1	2	1	0	2	5	2	4	1	4	0	1	1	4	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179431010T>C	ENST00000589042.1	-	326	80073	c.79849A>G	c.(79849-79851)Aaa>Gaa	p.K26617E	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K17552E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K24976E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K17677E|TTN_ENST00000342992.6_Missense_Mutation_p.K24049E|TTN_ENST00000342175.6_Missense_Mutation_p.K17744E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24976	Fibronectin type-III 94.						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)			GGACGACCTTTGAATGGAATG	0.413													37	113					0	0	0	0	C	179431010	T	C	179431010	3	2	27	1	0	0	0	0	1	0	0	0	16831	1821	63	5	28278	5	TTN	2	179431010	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1145990	179431010	63768363	126	5194											
TTN	7273	broad.mit.edu	37	chr2	179436938	179436938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggctgcctccatcatgctCtggtttctcccaagagagtg	6	12	10	13	1	3	1	1	0	2	1	6	2	4	1	3	2	2	3	3	2	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179436938C>T	ENST00000589042.1	-	326	74145	c.73921G>A	c.(73921-73923)Gag>Aag	p.E24641K	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E15576K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E23000K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E15701K|TTN_ENST00000342992.6_Missense_Mutation_p.E22073K|TTN_ENST00000342175.6_Missense_Mutation_p.E15768K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23000	Ig-like 122.						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)			CCATCATGCTCTGGTTTCTCC	0.483													11	33					0	0	0	0	T	179436938	C	T	179436938	3	4	27	1	0	0	0	0	1	0	0	0	16831	922	32	2	34206	2	TTN	2	179436938	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	5928	179436938	63762435	127	5195											
TTN	7273	broad.mit.edu	37	chr2	179442524	179442524	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagatctcgcttctccactaTatatccagttaacttatgac	11	15	4	11	1	2	2	0	1	2	1	5	2	3	2	2	0	1	2	2	0	6	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179442524T>A	ENST00000589042.1	-	323	68853	c.68629A>T	c.(68629-68631)Ata>Tta	p.I22877L	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I13812L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I21236L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I13937L|TTN_ENST00000342992.6_Missense_Mutation_p.I20309L|TTN_ENST00000342175.6_Missense_Mutation_p.I14004L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21236							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)			TTCTCCACTATATATCCAGTT	0.418													15	51					0	0	0	0	A	179442524	T	A	179442524	3	1	27	1	0	0	0	0	1	0	0	0	16831	1406	49	5	39510	5	TTN	2	179442524	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	5586	179442524	63756849	128	5196											
TTN	7273	broad.mit.edu	37	chr2	179442852	179442852	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaagtctctcatccttatcGgagtcttgttagctctcttc	7	17	6	11	1	4	0	1	0	3	0	9	1	5	1	1	1	1	2	1	1	4	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179442852G>C	ENST00000589042.1	-	322	68614	c.68390C>G	c.(68389-68391)cCg>cGg	p.P22797R	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13732R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P21156R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13857R|TTN_ENST00000342992.6_Missense_Mutation_p.P20229R|TTN_ENST00000342175.6_Missense_Mutation_p.P13924R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21156	Ig-like 117.						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)			CATCCTTATCGGAGTCTTGTT	0.418													12	61					0	0	0	0	C	179442852	G	C	179442852	3	2	27	1	0	0	0	0	1	0	0	0	16831	1116	39	3	39753	3	TTN	2	179442852	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	328	179442852	63756521	129	5197											
TTN	7273	broad.mit.edu	37	chr2	179504494	179504494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggttcaggttccacaggaGgtggtttgattgttttcact	6	17	12	6	0	2	1	2	1	0	0	3	2	3	2	1	5	0	4	1	5	0	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179504494G>T	ENST00000589042.1	-	223	41032	c.40808C>A	c.(40807-40809)cCt>cAt	p.P13603H	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P4538H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11962H|TTN_ENST00000359218.5_Missense_Mutation_p.P4663H|TTN_ENST00000342992.6_Missense_Mutation_p.P11035H|TTN_ENST00000342175.6_Missense_Mutation_p.P4730H|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11962	Ig-like 92.						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)			TTCCACAGGAGGTGGTTTGAT	0.418													9	32					7.48243e-07	8.90487e-07	1	0	T	179504494	G	T	179504494	3	4	27	1	0	0	0	0	1	0	0	0	16831	1000	35	4	67445	4	TTN	2	179504494	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	61642	179504494	63694879	130	5198											
TTN	7273	broad.mit.edu	37	chr2	179592942	179592942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattattaacttccagagAcacagatctctcatggcaca	14	10	6	11	0	2	3	1	0	1	3	4	4	3	3	1	1	1	1	1	1	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179592942A>T	ENST00000589042.1	-	67	19833	c.19609T>A	c.(19609-19611)Tct>Act	p.S6537T	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S6220T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5293T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6220	Ig-like 47.						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)			ACTTCCAGAGACACAGATCTC	0.398													4	20					0	0	0	0	T	179592942	A	T	179592942	3	4	27	1	0	0	0	0	1	0	0	0	16831	275	10	5	85104	5	TTN	2	179592942	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	88448	179592942	63606431	131	5199											
TTN	7273	broad.mit.edu	37	chr2	179615215	179615215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacgtcactataggttgaGgatatccttgaaaatgacac	14	10	8	9	1	1	3	1	3	0	0	2	4	2	4	2	2	0	1	2	2	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179615215G>A	ENST00000360870.5	-	46	12134	c.11912C>T	c.(11911-11913)cCt>cTt	p.P3971L	TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9787							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)			TATAGGTTGAGGATATCCTTG	0.358													9	23					0	0	0	0	A	179615215	G	A	179615215	3	1	27	1	0	0	0	0	1	0	0	0	16831	1000	35	4	98385	4	TTN	2	179615215	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	22273	179615215	63584158	132	5200											
TTN	7273	broad.mit.edu	37	chr2	179615721	179615721	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcattcttatttcagtctgGaaaatttcttcatcaacaat	12	17	3	9	0	7	0	4	0	3	0	7	1	7	1	0	1	1	0	0	1	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179615721G>C	ENST00000360870.5	-	46	11628	c.11406C>G	c.(11404-11406)ttC>ttG	p.F3802L	TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9639							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)			TTTCAGTCTGGAAAATTTCTT	0.343													32	92					0	0	0	0	C	179615721	G	C	179615721	3	2	27	1	0	0	0	0	1	0	0	0	16831	1165	41	2	98891	2	TTN	2	179615721	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	506	179615721	63583652	133	5201											
TTN	7273	broad.mit.edu	37	chr2	179622620	179622620	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgccattgggagtttgatgTattttcttcaaatttgctaa	10	18	8	5	0	2	1	1	1	1	0	2	2	2	2	1	1	2	3	1	1	3	8			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179622620T>A	ENST00000589042.1	-	45	10551	c.10327A>T	c.(10327-10329)Aca>Tca	p.T3443S	TTN_ENST00000360870.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.T3397S|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3146							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)			GAGTTTGATGTATTTTCTTCA	0.403													17	78					0	0	0	0	A	179622620	T	A	179622620	3	1	27	1	0	0	0	0	1	0	0	0	16831	1638	57	5	100933	5	TTN	2	179622620	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	6899	179622620	63576753	134	5202											
TTN	7273	broad.mit.edu	37	chr2	179632518	179632518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaatacttcggatgcgaaCatctctgccttctacaaaga	12	13	6	10	2	2	1	0	0	2	1	4	3	2	2	1	1	5	0	1	1	5	6	rs150283731		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179632518C>A	ENST00000589042.1	-	40	9663	c.9439G>T	c.(9439-9441)Gtt>Ttt	p.V3147F	TTN_ENST00000360870.5_Missense_Mutation_p.V3147F|TTN_ENST00000460472.2_Missense_Mutation_p.V3101F|TTN_ENST00000591111.1_Missense_Mutation_p.V3147F|TTN_ENST00000359218.5_Missense_Mutation_p.V3101F|TTN_ENST00000342992.6_Missense_Mutation_p.V3147F|TTN_ENST00000342175.6_Missense_Mutation_p.V3101F|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2882							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)			CGGATGCGAACATCTCTGCCT	0.403													19	92					3.51602e-12	4.87654e-12	1	0	A	179632518	C	A	179632518	3	1	27	1	0	0	0	0	1	0	0	0	16831	478	17	4	101841	4	TTN	2	179632518	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	9898	179632518	63566855	135	5203											
TTN	7273	broad.mit.edu	37	chr2	179655564	179655564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagttatctcagtttcCtgtcttatctgatgtttaga	8	17	8	8	0	3	2	1	1	3	1	5	2	4	2	1	0	1	5	1	0	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179655564C>T	ENST00000589042.1	-	11	1895	c.1671G>A	c.(1669-1671)caG>caA	p.Q557Q	TTN_ENST00000360870.5_Silent_p.Q557Q|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.Q557Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.Q557Q|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	557							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)			TCTCAGTTTCCTGTCTTATCT	0.403													9	51					0	0	0	0	T	179655564	C	T	179655564	2	4	27	1	0	0	0	0	0	0	0	1	16831	680	24	4		4	TTN	2	179655564	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	23046	179655564	63543809	136	5204											
CCDC141	285025	broad.mit.edu	37	chr2	179733867	179733867	+	Frame_Shift_Del	DEL	G	G	-																															ttccttgacttgatggaactGgaccaccttgtacaggatat																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179733867delG	ENST00000420890.2	-	15	2488	c.2371delC	c.(2371-2373)agfs	p.Q791fs	CCDC141_ENST00000295723.5_Frame_Shift_Del_p.Q216fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	216							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGATGGAACTGGACCACCTTG	0.343													22	99	---	---	---	---					-	179733867	G	-	179733867	7	5	27	1	0	1	0	1	0	0	0	0	2800	1357	47	0	2017	0	CCDC141	2	179733867	Frame_Shift_Del	DEL	G	TCGA-BA-A6DA-01A-31D-A31L-08	78303	179733867	63465506	137	5205											
SESTD1	91404	broad.mit.edu	37	chr2	180008416	180008416	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgctctcggagtgaatctAataatttcataacctgtggc	11	14	8	8	1	3	1	1	1	2	0	4	2	3	2	1	2	2	1	1	2	4	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:180008416A>T	ENST00000428443.3	-	9	1068	c.752T>A	c.(751-753)tTa>tAa	p.L251*		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	251					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAGTGAATCTAATAATTTCAT	0.453													19	77					0	0	0	0	T	180008416	A	T	180008416	4	4	27	1	0	0	0	0	0	1	0	0	14214	372	13	5	1378	5	SESTD1	2	180008416	Nonsense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	274549	180008416	63190957	138	5206											
ANKAR	150709	broad.mit.edu	37	chr2	190554269	190554269	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtttgactgatattacAaaggatccagactttaatga	15	12	9	5	0	0	4	0	3	0	1	1	6	1	5	1	2	1	1	1	2	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:190554269A>G	ENST00000520309.1	+	3	706	c.618A>G	c.(616-618)acA>acG	p.T206T	ANKAR_ENST00000313581.4_Silent_p.T206T|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000431575.2_Silent_p.T135T|ANKAR_ENST00000438402.2_Silent_p.T206T|ANKAR_ENST00000461516.1_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	206						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTGATATTACAAAGGATCCAG	0.318													11	55					0	0	0	0	G	190554269	A	G	190554269	2	3	27	1	0	0	0	0	0	0	0	1	623	117	5	5		5	ANKAR	2	190554269	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	10545853	190554269	52645104	139	5207											
MYO1B	4430	broad.mit.edu	37	chr2	192250719	192250719	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgtgccacccaccagcAttttgagagcaggatgagca	12	8	11	10	0	0	2	0	2	0	1	0	4	0	3	3	1	4	4	3	1	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:192250719A>G	ENST00000392318.3	+	16	1710	c.1463A>G	c.(1462-1464)cAt>cGt	p.H488R	MYO1B_ENST00000304164.4_Missense_Mutation_p.H488R|MYO1B_ENST00000339514.4_Missense_Mutation_p.H488R|MYO1B_ENST00000392316.1_Missense_Mutation_p.H488R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	488	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACCCACCAGCATTTTGAGAGC	0.522													49	192					0	0	0	0	G	192250719	A	G	192250719	3	3	27	1	0	0	0	0	1	0	0	0	10139	217	8	5	1521	5	MYO1B	2	192250719	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	1696450	192250719	50948654	140	5208											
DNAH7	56171	broad.mit.edu	37	chr2	196737029	196737029	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctgttgtttctggtcttGacaaacaaacaccttgaatg	10	16	7	8	0	3	2	0	2	3	0	3	2	3	2	1	1	2	2	1	1	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:196737029G>C	ENST00000312428.6	-	40	6678	c.6578C>G	c.(6577-6579)tCa>tGa	p.S2193*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2193					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCTGGTCTTGACAAACAAAC	0.378													16	58					0	0	0	0	C	196737029	G	C	196737029	4	2	27	1	0	0	0	0	0	1	0	0	4642	1294	45	2	5600	2	DNAH7	2	196737029	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4486310	196737029	46462344	141	5209											
RAPH1	65059	broad.mit.edu	37	chr2	204305156	204305156	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accaggctgctttcaggaggGggaggagggaagtccggaga	10	5	19	7	1	1	1	1	0	0	1	2	6	2	5	2	7	1	2	2	7	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:204305156G>T	ENST00000319170.5	-	14	3056	c.2757C>A	c.(2755-2757)ccC>ccA	p.P919P	RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Silent_p.P971P	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	919					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTCAGGAGGGGGAGGAGGGA	0.602													26	71					7.92952e-12	1.08659e-11	1	0	T	204305156	G	T	204305156	2	4	27	1	0	0	0	0	0	0	0	1	13132	1219	43	4		4	RAPH1	2	204305156	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	7568127	204305156	38894217	142	5210											
PTH2R	5746	broad.mit.edu	37	chr2	209307155	209307155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatctcttttggttccttgGctgtggctattctcatcatt	4	19	7	11	0	3	0	2	0	2	0	6	0	4	0	2	3	0	3	2	3	1	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:209307155G>A	ENST00000272847.2	+	5	691	c.478G>A	c.(478-480)Gct>Act	p.A160T	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	160						integral to plasma membrane	parathyroid hormone receptor activity	p.A160S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGGTTCCTTGGCTGTGGCTAT	0.448													14	147					0	0	0	0	A	209307155	G	A	209307155	3	1	27	1	0	0	0	0	1	0	0	0	12840	1203	42	4	496	4	PTH2R	2	209307155	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5001999	209307155	33892218	143	5211											
PTH2R	5746	broad.mit.edu	37	chr2	209358198	209358198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagacagcctgacagccaCatcactttacctggctatgt	11	9	8	13	0	1	2	1	1	0	1	1	2	1	2	3	1	4	2	3	1	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:209358198C>A	ENST00000272847.2	+	13	1680	c.1467C>A	c.(1465-1467)caC>caA	p.H489Q	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	489						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CTGACAGCCACATCACTTTAC	0.577													14	30					0.000151284	0.000166195	1	0	A	209358198	C	A	209358198	3	1	27	1	0	0	0	0	1	0	0	0	12840	477	17	4	1517	4	PTH2R	2	209358198	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	51043	209358198	33841175	144	5212											
FN1	2335	broad.mit.edu	37	chr2	216269248	216269248	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacccacattgtactgcctGggctgtcctcttcgggtaag	6	11	12	12	1	1	0	0	0	1	0	3	1	2	1	3	3	2	3	3	3	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:216269248G>C	ENST00000354785.4	-	20	3486	c.3117C>G	c.(3115-3117)ccC>ccG	p.P1039P	FN1_ENST00000346544.3_Silent_p.P1039P|FN1_ENST00000323926.6_Silent_p.P1039P|FN1_ENST00000421182.1_Silent_p.P1039P|FN1_ENST00000356005.4_Silent_p.P1039P|FN1_ENST00000357009.2_Silent_p.P1039P|FN1_ENST00000336916.4_Silent_p.P1039P|FN1_ENST00000359671.1_Silent_p.P1039P|FN1_ENST00000446046.1_Silent_p.P1039P|FN1_ENST00000345488.5_Silent_p.P1039P|FN1_ENST00000357867.4_Silent_p.P1039P|FN1_ENST00000443816.1_Silent_p.P1039P|FN1_ENST00000432072.2_Silent_p.P1039P			P02751	FINC_HUMAN	fibronectin 1	1039	Fibronectin type-III 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTACTGCCTGGGCTGTCCTC	0.552													22	56					0	0	0	0	C	216269248	G	C	216269248	2	2	27	1	0	0	0	0	0	0	0	1	6007	1335	47	4		4	FN1	2	216269248	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	6911050	216269248	26930125	145	5213											
CCDC108	255101	broad.mit.edu	37	chr2	219892418	219892418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaccgtgtaaaggcagttgGggtgaggcggctggaagtgc	8	7	18	8	2	0	1	0	1	0	0	0	2	0	2	2	6	1	4	2	6	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:219892418G>A	ENST00000341552.5	-	13	2248	c.2165C>T	c.(2164-2166)cCc>cTc	p.P722L	CCDC108_ENST00000409865.3_Missense_Mutation_p.P711L|CCDC108_ENST00000410037.1_Missense_Mutation_p.P657L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P722L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P722L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	722						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGCAGTTGGGGTGAGGCGG	0.607													33	121					0	0	0	0	A	219892418	G	A	219892418	3	1	27	1	0	0	0	0	1	0	0	0	2768	1232	43	4	3704	4	CCDC108	2	219892418	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3623170	219892418	23306955	146	5214											
SPHKAP	80309	broad.mit.edu	37	chr2	228881280	228881280	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctctgatctgtttcaatCtgaatcaaaggcacttccct	9	15	5	12	0	6	2	2	2	4	0	8	2	7	2	1	1	0	2	1	1	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:228881280C>G	ENST00000392056.3	-	7	4336	c.4290G>C	c.(4288-4290)caG>caC	p.Q1430H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Q1430H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1430						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGTTTCAATCTGAATCAAAG	0.468													22	61					0	0	0	0	G	228881280	C	G	228881280	3	3	27	1	0	0	0	0	1	0	0	0	15138	912	32	2	836	2	SPHKAP	2	228881280	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	8988862	228881280	14318093	147	5215											
SPHKAP	80309	broad.mit.edu	37	chr2	228881665	228881665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttcatgaattaacatgttgGtgatgtggtcagtcccacct	9	15	9	8	0	2	2	2	2	0	0	3	2	3	2	2	2	1	1	2	2	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:228881665G>T	ENST00000392056.3	-	7	3951	c.3905C>A	c.(3904-3906)aCc>aAc	p.T1302N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T1302N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1302						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAACATGTTGGTGATGTGGTC	0.502													20	61					8.34094e-07	9.86237e-07	1	0	T	228881665	G	T	228881665	3	4	27	1	0	0	0	0	1	0	0	0	15138	1261	44	4	1221	4	SPHKAP	2	228881665	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	385	228881665	14317708	148	5216											
LRRFIP1	9208	broad.mit.edu	37	chr2	238642432	238642432	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagccctcctgtctgtacAgcgctgcccggccttcgggg	3	9	12	17	3	1	0	0	0	1	0	4	0	3	0	5	3	4	2	5	3	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:238642432A>G	ENST00000308482.9	+	9	529	c.460A>G	c.(460-462)Agc>Ggc	p.S154G	LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000392000.4_Intron	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	0					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CTGTCTGTACAGCGCTGCCCG	0.582													14	59					0	0	0	0	G	238642432	A	G	238642432	3	3	27	1	0	0	0	0	1	0	0	0	9091	188	7	5	564	5	LRRFIP1	2	238642432	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	9760767	238642432	4556941	149	5217											
AGXT	189	broad.mit.edu	37	chr2	241810830	241810830	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcgtccaccggcgtgcTgcagccccttgatggcttcg	4	9	14	14	4	0	1	0	1	0	0	3	2	1	2	4	3	3	3	4	3	0	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:241810830T>A	ENST00000307503.3	+	4	875	c.488T>A	c.(487-489)cTg>cAg	p.L163Q		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	163					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACCGGCGTGCTGCAGCCCCTT	0.667													5	13					0	0	0	0	A	241810830	T	A	241810830	3	1	27	1	0	0	0	0	1	0	0	0	404	1580	55	5	502	5	AGXT	2	241810830	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	3168398	241810830	1388543	150	5218											
IQSEC1	9922	broad.mit.edu	37	chr3	12966186	12966186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaagtgggccaccccgacgGgcgtgtcgggcacaaagcca	9	3	16	13	4	0	0	0	0	0	0	1	2	0	1	4	4	1	1	4	4	2	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:12966186G>A	ENST00000273221.4	-	4	1883	c.1667C>T	c.(1666-1668)cCc>cTc	p.P556L		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	556	SEC7.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACCCCGACGGGCGTGTCGGG	0.652													17	45					0	0	0	0	A	12966186	G	A	12966186	3	1	27	1	0	0	0	0	1	0	0	0	7870	1232	43	4	1813	4	IQSEC1	3	12966186	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08		12966186	185056244	151	5219											
SUSD5	26032	broad.mit.edu	37	chr3	33194832	33194832	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaactgaactatgggtcAtgccctcgcttggtgtgagg	9	10	14	8	1	1	3	1	2	0	1	2	4	1	3	1	3	3	1	1	3	4	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:33194832A>C	ENST00000309558.3	-	5	1709	c.1292T>G	c.(1291-1293)aTg>aGg	p.M431R		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	431					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACTATGGGTCATGCCCTCGCT	0.512													5	14					0	0	0	0	C	33194832	A	C	33194832	3	2	27	1	0	0	0	0	1	0	0	0	15501	217	8	5	601	5	SUSD5	3	33194832	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	20228646	33194832	164827598	152	5220											
SLC22A14	9389	broad.mit.edu	37	chr3	38350472	38350472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggttagtgggtgagcaccGggcccatgccattatcctgg	6	10	15	10	1	0	1	0	1	0	0	1	1	1	1	4	4	2	2	4	4	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:38350472G>A	ENST00000273173.4	+	4	894	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	SLC22A14_ENST00000448498.1_Missense_Mutation_p.R268Q	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	268						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GGTGAGCACCGGGCCCATGCC	0.592													43	124					0	0	0	0	A	38350472	G	A	38350472	3	1	27	1	0	0	0	0	1	0	0	0	14533	1116	39	1	817	1	SLC22A14	3	38350472	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5155640	38350472	159671958	153	5221											
SCN10A	6336	broad.mit.edu	37	chr3	38793729	38793729	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgagacatcgacagctccaGgggcaagctcactagtgggc	10	5	13	13	2	1	1	1	0	0	1	3	3	2	1	2	3	2	3	2	3	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:38793729G>C	ENST00000449082.2	-	11	1735	c.1736C>G	c.(1735-1737)cCt>cGt	p.P579R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	579					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GACAGCTCCAGGGGCAAGCTC	0.562													10	60					0	0	0	0	C	38793729	G	C	38793729	3	2	27	1	0	0	0	0	1	0	0	0	13999	1000	35	4	4202	4	SCN10A	3	38793729	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	443257	38793729	159228701	154	5222											
MOBP	4336	broad.mit.edu	37	chr3	39543585	39543585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcagaaaccggccaaggagGgtcccagactctccaaaaac	14	4	10	13	1	2	2	1	0	1	2	4	3	3	3	4	3	2	0	4	3	4	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:39543585G>A	ENST00000311042.6	+	3	174	c.25G>A	c.(25-27)Ggt>Agt	p.G9S	MOBP_ENST00000441980.2_Missense_Mutation_p.G9S|MOBP_ENST00000354668.4_Missense_Mutation_p.G9S|MOBP_ENST00000415443.1_Missense_Mutation_p.G9S|MOBP_ENST00000396228.1_Missense_Mutation_p.G9S|MOBP_ENST00000447324.1_Missense_Mutation_p.G9S|MOBP_ENST00000383754.3_Missense_Mutation_p.G9S|MOBP_ENST00000428261.1_Missense_Mutation_p.G9S|MOBP_ENST00000420739.1_Missense_Mutation_p.G9S	NM_001278322.1	NP_001265251.1	Q13875	MOBP_HUMAN	myelin-associated oligodendrocyte basic protein	9					nervous system development	nucleolus|perinuclear region of cytoplasm|soluble fraction				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)		GGCCAAGGAGGGTCCCAGACT	0.527													11	30					0	0	0	0	A	39543585	G	A	39543585	3	1	27	1	0	0	0	0	1	0	0	0	9758	1232	43	4	27	4	MOBP	3	39543585	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	749856	39543585	158478845	155	5223											
SCAP	22937	broad.mit.edu	37	chr3	47476525	47476525	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgctcagtaggctctccTtgtttgcggtcagagtccac	5	12	12	12	1	3	1	2	0	1	1	5	1	4	1	2	3	2	5	2	3	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:47476525T>A	ENST00000265565.5	-	3	637	c.225A>T	c.(223-225)caA>caT	p.Q75H	SCAP_ENST00000545718.1_De_novo_Start_InFrame|SCAP_ENST00000441517.2_De_novo_Start_InFrame	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	75					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	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi 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)		TAGGCTCTCCTTGTTTGCGGT	0.597													25	47					0	0	0	0	A	47476525	T	A	47476525	3	1	27	1	0	0	0	0	1	0	0	0	13963	1606	56	5	3698	5	SCAP	3	47476525	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	7932940	47476525	150545905	156	5224											
CACNA2D2	9254	broad.mit.edu	37	chr3	50404858	50404858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcttgaagacataaccgtGgttatccaggctgcggcggt	8	9	15	9	3	0	2	0	1	0	1	1	2	1	2	2	5	2	3	2	5	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:50404858G>A	ENST00000435965.1	-	28	2562	c.2389C>T	c.(2389-2391)Cac>Tac	p.H797Y	XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.H790Y|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.H790Y|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.H797Y|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.H790Y|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.H797Y|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.H721Y|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.H790Y			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	797					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	ACATAACCGTGGTTATCCAGG	0.612													11	30					0	0	0	0	A	50404858	G	A	50404858	3	1	27	1	0	0	0	0	1	0	0	0	2574	1348	47	4	1117	4	CACNA2D2	3	50404858	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2928333	50404858	147617572	157	5225											
EPHA6	285220	broad.mit.edu	37	chr3	97251359	97251359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtttgaccatccaaacatCattcgcctagaaggggttgt	11	11	9	10	1	1	2	1	1	0	1	3	2	2	2	3	2	1	2	3	2	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:97251359C>G	ENST00000389672.5	+	11	2396	c.2358C>G	c.(2356-2358)atC>atG	p.I786M	EPHA6_ENST00000514100.1_Missense_Mutation_p.I178M|EPHA6_ENST00000442602.2_Missense_Mutation_p.I152M|EPHA6_ENST00000502694.1_Missense_Mutation_p.I178M	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	691	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATCCAAACATCATTCGCCTAG	0.383													11	35					0	0	0	0	G	97251359	C	G	97251359	3	3	27	1	0	0	0	0	1	0	0	0	5209	816	29	2	2468	2	EPHA6	3	97251359	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	46846501	97251359	100771071	158	5226											
IMPG2	50939	broad.mit.edu	37	chr3	100949889	100949889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaaagatgacaagaaGtccaaccacggaggcaatag	19	3	11	8	1	0	4	0	1	0	3	1	5	1	5	2	2	2	2	2	2	7	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:100949889G>A	ENST00000193391.7	-	16	3521	c.3334C>T	c.(3334-3336)Ctt>Ttt	p.L1112F		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1112					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATGACAAGAAGTCCAACCACG	0.493													39	114					0	0	0	0	A	100949889	G	A	100949889	3	1	27	1	0	0	0	0	1	0	0	0	7782	1029	36	4	407	4	IMPG2	3	100949889	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3698530	100949889	97072541	159	5227											
ZBTB11	27107	broad.mit.edu	37	chr3	101383838	101383838	+	Frame_Shift_Del	DEL	C	C	-																															gctgacttgggaacggctttCcgtttctgcagctttttctc																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:101383838delC	ENST00000312938.4	-	4	2173	c.1593delG	c.(1591-1593)cgfs	p.R531fs		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAACGGCTTTCCGTTTCTGCA	0.403													16	94	---	---	---	---					-	101383838	C	-	101383838	7	5	27	1	0	1	0	1	0	0	0	0	17619	842	30	0	1600	0	ZBTB11	3	101383838	Frame_Shift_Del	DEL	C	TCGA-BA-A6DA-01A-31D-A31L-08	433949	101383838	96638592	160	5228											
BBX	56987	broad.mit.edu	37	chr3	107491516	107491516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaaaatggaagaatcaaaGctaataaaagcaaaagaatc	24	6	7	4	0	1	3	1	1	0	2	2	4	1	4	0	1	2	2	0	1	11	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:107491516G>T	ENST00000415149.2	+	11	1275	c.948G>T	c.(946-948)aaG>aaT	p.K316N	BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.K316N|BBX_ENST00000406780.1_Missense_Mutation_p.K316N|BBX_ENST00000402543.1_Missense_Mutation_p.K316N	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAGAATCAAAGCTAATAAAAG	0.348													9	32					3.09899e-07	3.73677e-07	1	0	T	107491516	G	T	107491516	3	4	27	1	0	0	0	0	1	0	0	0	1347	962	34	4	978	4	BBX	3	107491516	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	6107678	107491516	90530914	161	5229											
DPPA2	151871	broad.mit.edu	37	chr3	109023458	109023458	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgcatgaaactgcaggcGtacccaaccctttgtgtctg	9	10	9	13	1	1	1	0	1	1	0	1	1	1	1	3	1	5	3	3	1	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:109023458G>C	ENST00000478945.1	-	7	964	c.718C>G	c.(718-720)Cgc>Ggc	p.R240G		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	240						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AACTGCAGGCGTACCCAACCC	0.502													21	66					0	0	0	0	C	109023458	G	C	109023458	3	2	27	1	0	0	0	0	1	0	0	0	4770	1145	40	3	186	3	DPPA2	3	109023458	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1531942	109023458	88998972	162	5230											
DPPA4	55211	broad.mit.edu	37	chr3	109050771	109050771	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcccgcagaatgtcccGgtgaatcagattaacaggtg	11	7	12	11	2	1	3	1	1	0	2	2	3	2	3	3	3	1	1	3	3	3	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:109050771G>T	ENST00000335658.6	-	3	340	c.286C>A	c.(286-288)Cgg>Agg	p.R96R	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	96						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						AGAATGTCCCGGTGAATCAGA	0.542													22	81					7.87624e-14	1.14632e-13	1	0	T	109050771	G	T	109050771	2	4	27	1	0	0	0	0	0	0	0	1	4772	1115	39	3		3	DPPA4	3	109050771	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	27313	109050771	88971659	163	5231											
CCDC80	151887	broad.mit.edu	37	chr3	112357536	112357536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgaaactgagggtctcCtggcagtgatcacctcagtg	8	11	11	11	0	4	3	2	3	2	0	6	3	4	3	2	2	1	1	2	2	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:112357536C>A	ENST00000206423.3	-	2	2170	c.1217G>T	c.(1216-1218)aGg>aTg	p.R406M	CCDC80_ENST00000439685.2_Missense_Mutation_p.R406M	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	406										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TGAGGGTCTCCTGGCAGTGAT	0.607													17	50					5.01169e-05	5.57261e-05	1	0	A	112357536	C	A	112357536	3	1	27	1	0	0	0	0	1	0	0	0	2881	681	24	4	1663	4	CCDC80	3	112357536	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3306765	112357536	85664894	164	5232											
C3orf30	152405	broad.mit.edu	37	chr3	118865682	118865682	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattacacacagattatccAaactatctgagagaagacct	17	9	6	9	0	1	5	0	1	1	4	2	6	2	5	2	0	2	0	2	0	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:118865682A>T	ENST00000295622.1	+	1	686	c.646A>T	c.(646-648)Aaa>Taa	p.K216*		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	216										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAGATTATCCAAACTATCTGA	0.512													27	87					0	0	0	0	T	118865682	A	T	118865682	4	4	27	1	0	0	0	0	0	1	0	0	2240	131	5	5	648	5	C3orf30	3	118865682	Nonsense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	6508146	118865682	79156748	165	5233											
STXBP5L	9515	broad.mit.edu	37	chr3	120941922	120941922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaccaagtttaaccatcatGcatggaaaagcaattacagt	17	9	7	8	0	1	1	1	0	0	1	1	2	1	2	2	1	4	3	2	1	6	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:120941922G>T	ENST00000273666.6	+	11	1300	c.1029G>T	c.(1027-1029)atG>atT	p.M343I	STXBP5L_ENST00000497029.1_Missense_Mutation_p.M343I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.M343I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.M343I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.M343I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	343					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TAACCATCATGCATGGAAAAG	0.353													16	53					1.99824e-07	2.42226e-07	1	0	T	120941922	G	T	120941922	3	4	27	1	0	0	0	0	1	0	0	0	15447	1319	46	4	1067	4	STXBP5L	3	120941922	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2076240	120941922	77080508	166	5234											
FBXO40	51725	broad.mit.edu	37	chr3	121340390	121340390	+	Frame_Shift_Del	DEL	C	C	-																															tcctgcctggtaataagctgCcacctgctctgtggtgccac																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:121340390delC	ENST00000338040.4	+	3	528	c.114delC	c.(112-114)tgfs	p.C38fs		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	38					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TAATAAGCTGCCACCTGCTCT	0.582													17	90	---	---	---	---					-	121340390	C	-	121340390	7	5	27	1	0	1	0	1	0	0	0	0	5794	747	26	0	120	0	FBXO40	3	121340390	Frame_Shift_Del	DEL	C	TCGA-BA-A6DA-01A-31D-A31L-08	398468	121340390	76682040	167	5235											
KPNA1	3836	broad.mit.edu	37	chr3	122145935	122145935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgtcttcatcttcggtcCcgaagtaatgctcaataaga	10	13	8	10	2	4	1	2	0	2	1	6	2	5	1	1	1	2	3	1	1	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:122145935C>T	ENST00000344337.6	-	14	1690	c.1514G>A	c.(1513-1515)gGg>gAg	p.G505E	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	505					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ATCTTCGGTCCCGAAGTAATG	0.433													12	59					0	0	0	0	T	122145935	C	T	122145935	3	4	27	1	0	0	0	0	1	0	0	0	8481	623	22	4	106	4	KPNA1	3	122145935	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	805545	122145935	75876495	168	5236											
KALRN	8997	broad.mit.edu	37	chr3	124181457	124181457	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcatctttggcaacatccaAgagatctacgatttccataa	14	12	5	10	1	3	1	1	0	2	1	5	3	5	1	2	1	2	1	2	1	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:124181457A>T	ENST00000360013.3	+	25	4129	c.4002A>T	c.(4000-4002)caA>caT	p.Q1334H	KALRN_ENST00000460856.1_Missense_Mutation_p.Q1325H|KALRN_ENST00000240874.3_Missense_Mutation_p.Q1334H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1334	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAACATCCAAGAGATCTACG	0.473													3	26					0	0	0	0	T	124181457	A	T	124181457	3	4	27	1	0	0	0	0	1	0	0	0	8028	69	3	5	4100	5	KALRN	3	124181457	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	2035522	124181457	73840973	169	5237											
PLXNA1	5361	broad.mit.edu	37	chr3	126751560	126751560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcgccaagatgccagccAtcagcgaccaggacatgagt	13	5	10	13	2	1	2	1	1	0	1	2	4	1	3	4	1	3	0	4	1	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:126751560A>G	ENST00000251772.4	+	30	5476	c.5407A>G	c.(5407-5409)Atc>Gtc	p.I1803V	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000393409.2_Missense_Mutation_p.I1826V			Q9UIW2	PLXA1_HUMAN	plexin A1	1826					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GATGCCAGCCATCAGCGACCA	0.622													13	69					0	0	0	0	G	126751560	A	G	126751560	3	3	27	1	0	0	0	0	1	0	0	0	12191	217	8	5	5594	5	PLXNA1	3	126751560	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	2570103	126751560	71270870	170	5238											
COL6A6	131873	broad.mit.edu	37	chr3	130287443	130287443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggaatatgcagcccccGtgaaggtaggcatgggcata	10	10	13	8	1	0	1	0	1	0	0	0	2	0	2	2	4	2	4	2	4	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:130287443G>T	ENST00000358511.6	+	5	2427	c.2396G>T	c.(2395-2397)cGt>cTt	p.R799L	COL6A6_ENST00000453409.2_Missense_Mutation_p.R799L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	799	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGCAGCCCCCGTGAAGGTAGG	0.403													20	37					1.28384e-07	1.56249e-07	1	0	T	130287443	G	T	130287443	3	4	27	1	0	0	0	0	1	0	0	0	3733	1145	40	3	2414	3	COL6A6	3	130287443	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3535883	130287443	67734987	171	5239											
TMEM108	66000	broad.mit.edu	37	chr3	133109139	133109139	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttcaacaggcatgctgtGgagctgcccagggagatcca	10	8	12	11	0	1	1	1	0	0	1	2	3	2	2	2	3	5	3	2	3	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:133109139G>A	ENST00000321871.6	+	5	1776	c.1566G>A	c.(1564-1566)gtG>gtA	p.V522V	TMEM108_ENST00000508711.1_Silent_p.V52V|TMEM108_ENST00000393130.3_Silent_p.V522V	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	522						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCATGCTGTGGAGCTGCCCA	0.542													13	416					0	0	0	0	A	133109139	G	A	133109139	2	1	27	1	0	0	0	0	0	0	0	1	16118	1335	47	4		4	TMEM108	3	133109139	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2821696	133109139	64913291	172	5240											
TOPBP1	11073	broad.mit.edu	37	chr3	133368380	133368380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttatgtgaaactggaatttCcactggctggtaattagcat	11	14	9	7	0	0	1	0	1	0	0	1	2	1	2	1	3	2	3	1	3	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:133368380C>T	ENST00000260810.5	-	10	1482	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	451					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACTGGAATTTCCACTGGCTGG	0.393								Other conserved DNA damage response genes					40	77					0	0	0	0	T	133368380	C	T	133368380	3	4	27	1	0	0	0	0	1	0	0	0	16464	864	30	2	3293	2	TOPBP1	3	133368380	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	259241	133368380	64654050	173	5241											
TRIM42	287015	broad.mit.edu	37	chr3	140406653	140406653	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaagcgaaaagagatcAgaaatggctttctcaagttg	16	8	11	6	1	2	2	2	0	1	2	3	4	2	2	0	2	1	3	0	2	5	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:140406653A>G	ENST00000286349.3	+	3	1320	c.1129A>G	c.(1129-1131)Aga>Gga	p.R377G		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	377						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAAAGAGATCAGAAATGGCTT	0.388													9	61					0	0	0	0	G	140406653	A	G	140406653	3	3	27	1	0	0	0	0	1	0	0	0	16612	180	7	5	1139	5	TRIM42	3	140406653	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	7038273	140406653	57615777	174	5242											
XRN1	54464	broad.mit.edu	37	chr3	142142437	142142437	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaaatcgaacttcttcTcttaagagagaaaaatgtgc	15	10	6	10	1	2	2	0	0	2	2	4	4	2	2	2	0	2	0	2	0	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:142142437T>A	ENST00000264951.4	-	6	792	c.675A>T	c.(673-675)agA>agT	p.R225S	XRN1_ENST00000463916.1_Missense_Mutation_p.R225S|XRN1_ENST00000544157.1_Missense_Mutation_p.R15S|XRN1_ENST00000392981.2_Missense_Mutation_p.R225S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	225					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GAACTTCTTCTCTTAAGAGAG	0.289													9	31					0	0	0	0	A	142142437	T	A	142142437	3	1	27	1	0	0	0	0	1	0	0	0	17555	1548	54	5	4593	5	XRN1	3	142142437	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1735784	142142437	55879993	175	5243											
AGTR1	185	broad.mit.edu	37	chr3	148459682	148459682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacacggccatgcctatcaCcatttgtatagcttatttta	10	14	7	10	1	1	0	1	0	0	0	1	1	1	1	3	2	2	2	3	2	5	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:148459682C>A	ENST00000542281.1	+	4	1306	c.860C>A	c.(859-861)aCc>aAc	p.T287N	AGTR1_ENST00000418473.2_Missense_Mutation_p.T287N|AGTR1_ENST00000497524.1_Missense_Mutation_p.T287N|AGTR1_ENST00000475347.1_Missense_Mutation_p.T287N|AGTR1_ENST00000474935.1_Missense_Mutation_p.T287N|AGTR1_ENST00000402260.1_Missense_Mutation_p.T287N|AGTR1_ENST00000461609.1_Missense_Mutation_p.T287N|AGTR1_ENST00000349243.3_Missense_Mutation_p.T287N|AGTR1_ENST00000404754.2_Missense_Mutation_p.T287N	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	287					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATGCCTATCACCATTTGTATA	0.343													5	72					0.014758	0.0151389	1	0	A	148459682	C	A	148459682	3	1	27	1	0	0	0	0	1	0	0	0	401	507	18	4	862	4	AGTR1	3	148459682	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	6317245	148459682	49562748	176	5244											
GYG1	2992	broad.mit.edu	37	chr3	148714191	148714191	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggccagagttgggtgtCacgctgacaaagctccactg	11	7	13	10	1	1	3	1	1	0	2	2	3	2	3	2	2	1	3	2	2	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:148714191C>A	ENST00000345003.4	+	3	546	c.246C>A	c.(244-246)gtC>gtA	p.V82V	GYG1_ENST00000484197.1_Silent_p.V82V|GYG1_ENST00000296048.6_Silent_p.V82V|GYG1_ENST00000483267.1_Silent_p.V82V	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	82					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGTTGGGTGTCACGCTGACAA	0.443													28	99					3.73148e-12	5.16753e-12	1	0	A	148714191	C	A	148714191	2	1	27	1	0	0	0	0	0	0	0	1	6955	813	29	2		2	GYG1	3	148714191	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	254509	148714191	49308239	177	5245											
P2RY13	53829	broad.mit.edu	37	chr3	151046592	151046593	+	Frame_Shift_Ins	INS	-	-	T																															tcaagtcggccaccaaagtgINStttttgaggtagatgatgaa																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:151046592_151046593insT	ENST00000325602.5	-	2	270_271	c.251_252insA	c.(250-252)aacfs	p.N84fs	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	84						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CCACCAAAGTGTTTTTGAGGTA	0.485													48	79	---	---	---	---					T	151046593	-	T	151046592	7	5	27	1	0	1	1	0	0	0	0	0	11421	1368	48	0	816	0	P2RY13	3	151046592	Frame_Shift_Ins	INS	-	TCGA-BA-A6DA-01A-31D-A31L-08	2332401	151046592	46975838	178	5246											
IGSF10	285313	broad.mit.edu	37	chr3	151165357	151165357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgggaccataaattcCtcatgtagagcgagcatgcc	10	8	12	11	2	1	1	1	0	0	1	2	3	2	2	4	2	3	2	4	2	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:151165357C>A	ENST00000282466.3	-	4	2411	c.2412G>T	c.(2410-2412)gaG>gaT	p.E804D		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	804					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCATAAATTCCTCATGTAGAG	0.478													18	88					1.56452e-12	2.18317e-12	1	0	A	151165357	C	A	151165357	3	1	27	1	0	0	0	0	1	0	0	0	7650	680	24	4	5519	4	IGSF10	3	151165357	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	118765	151165357	46857073	179	5247											
GPR149	344758	broad.mit.edu	37	chr3	154055683	154055683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggagtatgaggctgtttcCcctaggtcacatgaaacaaa	13	9	11	8	0	1	2	1	2	0	0	2	3	2	3	2	3	1	3	2	3	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:154055683C>T	ENST00000389740.2	-	4	2100	c.2001G>A	c.(1999-2001)ggG>ggA	p.G667G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	667						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGGCTGTTTCCCCTAGGTCAC	0.433													82	119					0	0	0	0	T	154055683	C	T	154055683	2	4	27	1	0	0	0	0	0	0	0	1	6703	610	22	4		4	GPR149	3	154055683	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2890326	154055683	43966747	180	5248											
PLCH1	23007	broad.mit.edu	37	chr3	155198905	155198905	+	Frame_Shift_Del	DEL	C	C	-																															tgccccggccttcaaggccaCcccctttcgtgttcttcagg																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:155198905delC	ENST00000460012.1	-	23	5177	c.4820delG	c.(4819-4821)gtfs	p.G1608fs	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Frame_Shift_Del_p.G1608fs|PLCH1_ENST00000340059.7_Frame_Shift_Del_p.G1646fs|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.G1608fs|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1646					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCAAGGCCACCCCCTTTCGT	0.557													9	53	---	---	---	---					-	155198905	C	-	155198905	7	5	27	1	0	1	0	1	0	0	0	0	12109	507	18	0	151	0	PLCH1	3	155198905	Frame_Shift_Del	DEL	C	TCGA-BA-A6DA-01A-31D-A31L-08	1143222	155198905	42823525	181	5249											
PLCH1	23007	broad.mit.edu	37	chr3	155208590	155208590	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccattgtcatctaccacaCgggtttgatctttacaacaa	12	13	5	11	1	3	1	1	1	2	0	3	1	3	1	2	1	4	1	2	1	5	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:155208590C>G	ENST00000460012.1	-	19	2642	c.2285G>C	c.(2284-2286)cGt>cCt	p.R762P	PLCH1_ENST00000494598.1_Missense_Mutation_p.R780P|PLCH1_ENST00000340059.7_Missense_Mutation_p.R780P|PLCH1_ENST00000447496.2_Missense_Mutation_p.R780P|PLCH1_ENST00000414191.1_Missense_Mutation_p.R762P|PLCH1_ENST00000334686.6_Missense_Mutation_p.R762P			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	780	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATCTACCACACGGGTTTGATC	0.308													20	34					0	0	0	0	G	155208590	C	G	155208590	3	3	27	1	0	0	0	0	1	0	0	0	12109	536	19	3	2781	3	PLCH1	3	155208590	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	9685	155208590	42813840	182	5250											
TNIK	23043	broad.mit.edu	37	chr3	170856013	170856013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggcttctcactaggactCattccttctttgtaatggta	7	16	8	10	0	3	0	2	0	2	0	5	1	4	1	1	3	0	4	1	3	3	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:170856013C>G	ENST00000436636.2	-	15	1919	c.1575G>C	c.(1573-1575)atG>atC	p.M525I	TNIK_ENST00000284483.8_Missense_Mutation_p.M525I|TNIK_ENST00000475336.1_Missense_Mutation_p.M496I|TNIK_ENST00000369326.5_Missense_Mutation_p.M496I|TNIK_ENST00000357327.5_Missense_Mutation_p.M496I|TNIK_ENST00000460047.1_Missense_Mutation_p.M525I|TNIK_ENST00000470834.1_Missense_Mutation_p.M496I|TNIK_ENST00000341852.6_Missense_Mutation_p.M496I|TNIK_ENST00000538048.1_Missense_Mutation_p.M525I|TNIK_ENST00000488470.1_Missense_Mutation_p.M525I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	525	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CACTAGGACTCATTCCTTCTT	0.488													5	44					0	0	0	0	G	170856013	C	G	170856013	3	3	27	1	0	0	0	0	1	0	0	0	16407	826	29	2	2583	2	TNIK	3	170856013	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	15647423	170856013	27166417	183	5251											
PEX5L	51555	broad.mit.edu	37	chr3	179605464	179605464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtgagagaattaccagCtgtattggatgttactggcc	13	11	11	6	0	0	2	0	1	0	1	0	4	0	3	2	2	3	3	2	2	6	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:179605464C>A	ENST00000467460.1	-	4	637	c.307G>T	c.(307-309)Gct>Tct	p.A103S	PEX5L_ENST00000485199.1_Missense_Mutation_p.A68S|PEX5L_ENST00000472994.1_Missense_Mutation_p.A44S|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.A79S|PEX5L_ENST00000464614.1_Missense_Mutation_p.A60S|PEX5L_ENST00000392649.3_Missense_Mutation_p.A60S|PEX5L_ENST00000263962.8_Missense_Mutation_p.A101S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000476138.1_Missense_Mutation_p.A60S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	103					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GAATTACCAGCTGTATTGGAT	0.378													60	107					1.64573e-32	2.74991e-32	1	0	A	179605464	C	A	179605464	3	1	27	1	0	0	0	0	1	0	0	0	11821	797	28	4	1621	4	PEX5L	3	179605464	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	8749451	179605464	18416966	184	5252											
DVL3	1857	broad.mit.edu	37	chr3	183885461	183885461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggttggaggtccgtgaccGcatgtggctcaagattacca	9	9	14	9	2	1	2	1	1	0	1	2	3	2	3	3	4	1	3	3	4	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:183885461G>T	ENST00000313143.3	+	12	1540	c.1292G>T	c.(1291-1293)cGc>cTc	p.R431L	DVL3_ENST00000431765.1_Missense_Mutation_p.R414L|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	431	DEP.			R -> C (in Ref. 1; AAB47447).	canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GTCCGTGACCGCATGTGGCTC	0.597													8	58					0.0381472	0.0386547	1	0	T	183885461	G	T	183885461	3	4	27	1	0	0	0	0	1	0	0	0	4873	1087	38	3	1338	3	DVL3	3	183885461	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4279997	183885461	14136969	185	5253											
CHRD	8646	broad.mit.edu	37	chr3	184100487	184100487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtagggggcatcaccctgCtcactctcagtgacacagag	9	7	12	13	1	3	2	3	1	1	1	4	2	3	2	1	2	1	3	1	2	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:184100487C>A	ENST00000204604.1	+	8	1153	c.907C>A	c.(907-909)Ctc>Atc	p.L303I	CHRD_ENST00000450923.1_Missense_Mutation_p.L303I|CHRD_ENST00000545352.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.L303I	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	303	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATCACCCTGCTCACTCTCAG	0.587													22	123					3.7963e-18	5.95167e-18	1	0	A	184100487	C	A	184100487	3	1	27	1	0	0	0	0	1	0	0	0	3401	797	28	4	937	4	CHRD	3	184100487	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	215026	184100487	13921943	186	5254											
TBCCD1	55171	broad.mit.edu	37	chr3	186274336	186274336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctttgagaagccactatCtgcatgcagtggttgccaca	10	11	10	10	0	2	1	0	1	2	1	2	3	2	1	2	1	4	3	2	1	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:186274336C>A	ENST00000424280.1	-	4	1200	c.721G>T	c.(721-723)Gat>Tat	p.D241Y	TBCCD1_ENST00000338733.5_Missense_Mutation_p.D241Y|TBCCD1_ENST00000446782.1_Missense_Mutation_p.D145Y	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	241					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AAGCCACTATCTGCATGCAGT	0.448													17	53					1.37285e-15	2.06041e-15	1	0	A	186274336	C	A	186274336	3	1	27	1	0	0	0	0	1	0	0	0	15726	913	32	2	968	2	TBCCD1	3	186274336	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2173849	186274336	11748094	187	5255											
TMEM175	84286	broad.mit.edu	37	chr4	946235	946235	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgatcgccattggggtcgtGcaggtagggggcctgggggg	4	8	22	7	2	0	1	0	1	0	0	2	1	0	1	2	8	1	2	2	8	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:946235G>C	ENST00000264771.4	+	7	644	c.459G>C	c.(457-459)gtG>gtC	p.V153V	TMEM175_ENST00000515740.1_Silent_p.V37V|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Silent_p.V71V	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	153						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TTGGGGTCGTGCAGGTAGGGG	0.532													25	144					0	0	0	0	C	946235	G	C	946235	2	2	27	1	0	0	0	0	0	0	0	1	16185	1306	46	4		4	TMEM175	4	946235	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08		946235	190208041	188	5256											
ADRA2C	152	broad.mit.edu	37	chr4	3768876	3768876	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtggctcatctcggccgtCatctccttcccgccgctggt	2	12	11	16	4	4	0	2	0	2	0	7	0	5	0	4	3	0	2	4	3	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:3768876C>T	ENST00000330055.5	+	1	752	c.543C>T	c.(541-543)gtC>gtT	p.V181V	ADRA2C_ENST00000509482.1_Silent_p.V181V	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	181					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TCTCGGCCGTCATCTCCTTCC	0.672													9	28					0	0	0	0	T	3768876	C	T	3768876	2	4	27	1	0	0	0	0	0	0	0	1	339	813	29	2		2	ADRA2C	4	3768876	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2822641	3768876	187385400	189	5257											
ZBTB49	166793	broad.mit.edu	37	chr4	4322518	4322518	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgcaaagctggtgacgaGagcccagatgtgctggagga	11	6	15	9	1	0	3	0	1	0	2	0	6	0	5	1	3	4	3	1	3	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:4322518G>C	ENST00000337872.4	+	8	1894	c.1773G>C	c.(1771-1773)gaG>gaC	p.E591D	ZBTB49_ENST00000355834.3_Missense_Mutation_p.E469D|ZBTB49_ENST00000538529.1_Missense_Mutation_p.E74D	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CTGGTGACGAGAGCCCAGATG	0.567													17	37					0	0	0	0	C	4322518	G	C	4322518	3	2	27	1	0	0	0	0	1	0	0	0	17645	933	33	2	1799	2	ZBTB49	4	4322518	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	553642	4322518	186831758	190	5258											
RBPJ	3516	broad.mit.edu	37	chr4	26417154	26417155	+	Frame_Shift_Ins	INS	-	-	G																															gtggatggaagaaaaaaaaaINSgaacaaatggaacgcgatgg																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:26417154_26417155insG	ENST00000342320.4	+	4	386_387	c.210_211insG	c.(208-213)aaaacafs	p.T71fs	RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.T50fs|RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.T72fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.T71fs|RBPJ_ENST00000361572.6_Frame_Shift_Ins_p.T85fs|RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.T85fs|RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.T71fs|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.T70fs|RBPJ_ENST00000511401.1_3'UTR			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	85					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AGAAAAAAAAAGAACAAATGGA	0.381													31	119	---	---	---	---					G	26417155	-	G	26417154	7	5	27	1	0	1	1	0	0	0	0	0	13243	69	3	0	329	0	RBPJ	4	26417154	Frame_Shift_Ins	INS	-	TCGA-BA-A6DA-01A-31D-A31L-08	22094636	26417154	164737122	191	5259											
GRXCR1	389207	broad.mit.edu	37	chr4	43022374	43022374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctctctcgttaatagggtGctgagaaaattttgtcaatg	10	15	9	7	1	3	1	1	1	2	1	5	2	3	1	0	1	1	2	0	1	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:43022374G>T	ENST00000399770.2	+	3	631	c.631G>T	c.(631-633)Gct>Tct	p.A211S		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	211	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTAATAGGGTGCTGAGAAAAT	0.338													8	19					0.00307968	0.00322431	1	0	T	43022374	G	T	43022374	3	4	27	1	0	0	0	0	1	0	0	0	6862	1319	46	4	641	4	GRXCR1	4	43022374	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	16605220	43022374	148131902	192	5260											
GABRA2	2555	broad.mit.edu	37	chr4	46388145	46388145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccagaagtctgtcaagaaTtctcgtaaagatggtaatgt	14	12	9	6	1	3	3	1	0	2	3	5	3	4	3	1	1	0	2	1	1	6	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:46388145T>C	ENST00000507460.1	-	3	465	c.133A>G	c.(133-135)Att>Gtt	p.I45V	GABRA2_ENST00000510861.1_Missense_Mutation_p.I45V|GABRA2_ENST00000507069.1_Missense_Mutation_p.I45V|GABRA2_ENST00000540012.1_Silent_p.E12E|GABRA2_ENST00000515082.1_Missense_Mutation_p.I45V|GABRA2_ENST00000381620.4_Missense_Mutation_p.I45V|GABRA2_ENST00000514090.1_Missense_Mutation_p.I45V|GABRA2_ENST00000356504.1_Missense_Mutation_p.I45V|GABRA2_ENST00000509716.1_5'UTR			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	45					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGTCAAGAATTCTCGTAAAG	0.348													10	43					0	0	0	0	C	46388145	T	C	46388145	3	2	27	1	0	0	0	0	1	0	0	0	6209	1493	52	5	1254	5	GABRA2	4	46388145	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	3365771	46388145	144766131	193	5261											
POLR2B	5431	broad.mit.edu	37	chr4	57883369	57883369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctcaatgatccttggtGtctgtgcatctattattccc	7	16	6	12	0	3	1	1	1	2	0	6	1	6	1	3	1	1	1	3	1	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:57883369G>C	ENST00000381227.1	+	16	2529	c.2116G>C	c.(2116-2118)Gtc>Ctc	p.V706L	POLR2B_ENST00000441246.2_Missense_Mutation_p.V699L|POLR2B_ENST00000314595.5_Missense_Mutation_p.V706L|POLR2B_ENST00000431623.2_Missense_Mutation_p.V631L			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	706					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GATCCTTGGTGTCTGTGCATC	0.383													45	140					0	0	0	0	C	57883369	G	C	57883369	3	2	27	1	0	0	0	0	1	0	0	0	12287	1377	48	4	2174	4	POLR2B	4	57883369	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	11495224	57883369	133270907	194	5262											
EPHA5	2044	broad.mit.edu	37	chr4	66509102	66509102	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccattttttggaaaagcaatCcatcccaggtcccccatgac	11	10	6	14	0	0	1	0	1	0	0	3	2	3	2	5	2	1	1	5	2	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:66509102C>T	ENST00000273854.3	-	2	825	c.225G>A	c.(223-225)tgG>tgA	p.W75*	EPHA5_ENST00000511294.1_Nonsense_Mutation_p.W75*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.W75*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.W75*	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	75					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GAAAAGCAATCCATCCCAGGT	0.333										TSP Lung(17;0.13)			5	36					0	0	0	0	T	66509102	C	T	66509102	4	4	27	1	0	0	0	0	0	1	0	0	5208	856	30	2	2956	2	EPHA5	4	66509102	Nonsense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	8625733	66509102	124645174	195	5263											
UGT2B4	7363	broad.mit.edu	37	chr4	70355209	70355209	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacattggccctttcttctGatgtgttactgaccatcgac	7	16	7	11	1	2	2	0	2	2	0	3	3	2	2	2	1	2	1	2	1	2	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:70355209G>T	ENST00000305107.6	-	3	996	c.950C>A	c.(949-951)tCa>tAa	p.S317*	UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.S317*|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.S181*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	317					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CCTTTCTTCTGATGTGTTACT	0.398													23	112					1.5548e-18	2.44593e-18	1	0	T	70355209	G	T	70355209	4	4	27	1	0	0	0	0	0	1	0	0	17057	1294	45	2	652	2	UGT2B4	4	70355209	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3846107	70355209	120799067	196	5264											
HTN3	3347	broad.mit.edu	37	chr4	70898910	70898910	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcattcacatcgaggctaTagatcaaattatctgtatga	14	13	6	8	1	4	2	3	1	1	1	5	3	4	2	0	1	0	2	0	1	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:70898910T>C	ENST00000530128.1	+	5	204	c.129T>C	c.(127-129)taT>taC	p.Y43Y	HTN3_ENST00000381057.3_Silent_p.Y33Y|HTN3_ENST00000526767.1_Silent_p.Y43Y			P15516	HIS3_HUMAN	histatin 3	43		Not sulfated.			biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	8						ATCGAGGCTATAGATCAAATT	0.363													17	35					0	0	0	0	C	70898910	T	C	70898910	2	2	27	1	0	0	0	0	0	0	0	1	7488	1413	49	5		5	HTN3	4	70898910	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	543701	70898910	120255366	197	5265											
SLC4A4	8671	broad.mit.edu	37	chr4	72363367	72363367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaacctacacctcttccatGgctctgaaaaaattcaaaac	15	9	5	12	0	3	1	1	1	2	0	4	2	4	2	3	2	3	1	3	2	7	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:72363367G>T	ENST00000340595.3	+	13	2188	c.1992G>T	c.(1990-1992)atG>atT	p.M664I	SLC4A4_ENST00000425175.1_Missense_Mutation_p.M708I|SLC4A4_ENST00000264485.5_Missense_Mutation_p.M708I|SLC4A4_ENST00000351898.6_Missense_Mutation_p.M708I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	708						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCTCTTCCATGGCTCTGAAAA	0.363													15	59					1.67942e-08	2.11431e-08	1	0	T	72363367	G	T	72363367	3	4	27	1	0	0	0	0	1	0	0	0	14744	1348	47	4	2303	4	SLC4A4	4	72363367	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1464457	72363367	118790909	198	5266											
ADAMTS3	9508	broad.mit.edu	37	chr4	73164122	73164122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggatgatgtacttatatGtcaggctagagcgggtatca	11	12	12	6	1	2	2	2	1	0	1	2	3	2	3	0	3	2	3	0	3	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:73164122G>T	ENST00000286657.4	-	18	2498	c.2462C>A	c.(2461-2463)aCa>aAa	p.T821K		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	821	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACTTATATGTCAGGCTAGA	0.358													11	75					1.61879e-10	2.12583e-10	1	0	T	73164122	G	T	73164122	3	4	27	1	0	0	0	0	1	0	0	0	267	1377	48	4	1175	4	ADAMTS3	4	73164122	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	800755	73164122	117990154	199	5267											
GRID2	2895	broad.mit.edu	37	chr4	94031951	94031951	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctcagcagggaatggaTgttgcacttcagaaggtaga	11	10	13	7	0	3	2	2	0	1	2	4	4	3	4	0	3	2	4	0	3	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:94031951T>C	ENST00000282020.4	+	4	840	c.582T>C	c.(580-582)gaT>gaC	p.D194D	GRID2_ENST00000510992.1_Silent_p.D99D|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	194					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGGGAATGGATGTTGCACTTC	0.388													19	87					0	0	0	0	C	94031951	T	C	94031951	2	2	27	1	0	0	0	0	0	0	0	1	6822	1461	51	5		5	GRID2	4	94031951	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	20867829	94031951	97122325	200	5268											
TACR3	6870	broad.mit.edu	37	chr4	104640371	104640371	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagcggcagtagttggcGccaaagtaccactcgctatg	10	8	13	10	3	0	0	0	0	0	0	1	1	0	1	2	3	2	5	2	3	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:104640371G>C	ENST00000304883.2	-	1	602	c.462C>G	c.(460-462)ggC>ggG	p.G154G		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	154						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGTAGTTGGCGCCAAAGTACC	0.537													19	34					0	0	0	0	C	104640371	G	C	104640371	2	2	27	1	0	0	0	0	0	0	0	1	15598	1074	38	3		3	TACR3	4	104640371	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	10608420	104640371	86513905	201	5269											
HADH	3033	broad.mit.edu	37	chr4	108954331	108954331	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgccgttttctccttaGgtgacgcatccaaagaagac	9	11	10	11	2	1	3	0	1	1	2	3	3	2	3	3	1	2	3	3	1	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:108954331G>A	ENST00000505878.1	+	8	994		c.e8-1		HADH_ENST00000403312.1_Splice_Site|HADH_ENST00000510728.1_Splice_Site|HADH_ENST00000603302.1_Splice_Site|HADH_ENST00000309522.3_Splice_Site|HADH_ENST00000454409.2_Splice_Site			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase						fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	TTTCTCCTTAGGTGACGCATC	0.458													14	57					0	0	0	0	A	108954331	G	A	108954331	5	1	27	1	0	0	0	0	0	0	1	0	6992	1014	35	4	790	4	HADH	4	108954331	Splice_Site	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4313960	108954331	82199945	202	5270											
ANK2	287	broad.mit.edu	37	chr4	114120235	114120235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcaaagttcttgttaaGgaaggagccaatattaatgc	13	13	10	5	0	2	0	1	0	1	0	2	2	2	2	1	2	2	3	1	2	6	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:114120235G>T	ENST00000357077.4	+	4	407	c.354G>T	c.(352-354)aaG>aaT	p.K118N	ANK2_ENST00000264366.6_Missense_Mutation_p.K118N|ANK2_ENST00000394537.3_Missense_Mutation_p.K118N|ANK2_ENST00000506722.1_Missense_Mutation_p.K97N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	118					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCTTGTTAAGGAAGGAGCCA	0.348													20	49					1.00905e-13	1.4616e-13	1	0	T	114120235	G	T	114120235	3	4	27	1	0	0	0	0	1	0	0	0	621	991	35	4	393	4	ANK2	4	114120235	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5165904	114120235	77034041	203	5271											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005504	118005504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaagtttccactcccactCcgttttctgttcttttttta	5	21	4	11	1	2	1	0	1	2	0	5	1	5	1	3	0	0	3	3	0	2	9			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:118005504C>A	ENST00000310754.4	-	1	1232	c.1046G>T	c.(1045-1047)gGa>gTa	p.G349V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	349					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CACTCCCACTCCGTTTTCTGT	0.393													23	128					6.44725e-10	8.38234e-10	1	0	A	118005504	C	A	118005504	3	1	27	1	0	0	0	0	1	0	0	0	16547	855	30	2	67	2	TRAM1L1	4	118005504	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3885269	118005504	73148772	204	5272											
MAD2L1	4085	broad.mit.edu	37	chr4	120987824	120987824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgagaacttacagaagaaCtcggccacgatttcggcgct	11	7	11	12	6	0	3	0	0	0	3	2	5	0	3	1	2	3	1	1	2	4	2	rs140487496	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:120987824C>A	ENST00000296509.5	-	1	405	c.66G>T	c.(64-66)gaG>gaT	p.E22D		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	22	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TACAGAAGAACTCGGCCACGA	0.602													15	35					1.15088e-07	1.40254e-07	1	0	A	120987824	C	A	120987824	3	1	27	1	0	0	0	0	1	0	0	0	9213	564	20	4	571	4	MAD2L1	4	120987824	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2982320	120987824	70166452	205	5273											
TNIP3	79931	broad.mit.edu	37	chr4	122075751	122075751	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtaatgttccttttccttGttcgcaagagtattttttcc	6	20	6	9	2	0	1	0	0	0	1	5	1	3	1	3	0	0	5	3	0	3	10			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:122075751G>C	ENST00000454328.1	-	7	674	c.447C>G	c.(445-447)aaC>aaG	p.N149K	TNIP3_ENST00000509841.1_Missense_Mutation_p.N226K|TNIP3_ENST00000507879.1_Missense_Mutation_p.N219K|TNIP3_ENST00000057513.3_Missense_Mutation_p.N149K			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	149										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CCTTTTCCTTGTTCGCAAGAG	0.348													6	37					0	0	0	0	C	122075751	G	C	122075751	3	2	27	1	0	0	0	0	1	0	0	0	16410	1368	48	4	558	4	TNIP3	4	122075751	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1087927	122075751	69078525	206	5274											
BBS12	166379	broad.mit.edu	37	chr4	123663245	123663245	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggatttaaccagtgcagtGggacaacttctcaatgaagc	12	11	10	8	0	1	1	1	1	1	0	2	3	1	3	1	2	4	1	1	2	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:123663245G>T	ENST00000542236.1	+	3	579	c.198G>T	c.(196-198)gtG>gtT	p.V66V	BBS12_ENST00000314218.3_Silent_p.V66V	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	66					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CCAGTGCAGTGGGACAACTTC	0.358									Bardet-Biedl syndrome				16	57					1.15088e-07	1.40254e-07	1	0	T	123663245	G	T	123663245	2	4	27	1	0	0	0	0	0	0	0	1	1341	1335	47	4		4	BBS12	4	123663245	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1587494	123663245	67491031	207	5275											
FAT4	79633	broad.mit.edu	37	chr4	126241236	126241236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaatatcagaatcagcaGccaatctgacacaagtgtta	16	9	6	10	0	3	2	2	1	1	1	3	2	3	2	1	0	3	2	1	0	7	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:126241236G>T	ENST00000394329.3	+	1	3683	c.3670G>T	c.(3670-3672)Gcc>Tcc	p.A1224S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1224	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAATCAGCAGCCAATCTGAC	0.338													11	24					4.68919e-08	5.80748e-08	1	0	T	126241236	G	T	126241236	3	4	27	1	0	0	0	0	1	0	0	0	5737	971	34	4	3672	4	FAT4	4	126241236	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2577991	126241236	64913040	208	5276											
FAT4	79633	broad.mit.edu	37	chr4	126372739	126372739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatggaaaacaaacggcCaggcactttggtgatgaccc	13	7	11	10	1	1	2	1	2	0	0	1	3	1	3	2	4	2	1	2	4	3	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:126372739C>T	ENST00000394329.3	+	9	10581	c.10568C>T	c.(10567-10569)cCa>cTa	p.P3523L	FAT4_ENST00000335110.5_Missense_Mutation_p.P1821L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3523	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AACAAACGGCCAGGCACTTTG	0.488													32	92					0	0	0	0	T	126372739	C	T	126372739	3	4	27	1	0	0	0	0	1	0	0	0	5737	594	21	4	10602	4	FAT4	4	126372739	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	131503	126372739	64781537	209	5277											
C4orf29	80167	broad.mit.edu	37	chr4	128949870	128949870	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaacactttcaaccaacAaaagtggttatacaagtcgc	17	9	5	10	1	2	0	2	0	0	0	3	0	2	0	1	1	4	1	1	1	8	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:128949870A>T	ENST00000388795.5	+	11	1199	c.796A>T	c.(796-798)Aaa>Taa	p.K266*	C4orf29_ENST00000444616.1_Nonsense_Mutation_p.K314*|C4orf29_ENST00000398965.1_Nonsense_Mutation_p.K314*			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	314						extracellular region				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TTCAACCAACAAAAGTGGTTA	0.383													22	73					0	0	0	0	T	128949870	A	T	128949870	4	4	27	1	0	0	0	0	0	1	0	0	2280	131	5	5	974	5	C4orf29	4	128949870	Nonsense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	2577131	128949870	62204406	210	5278											
INPP4B	8821	broad.mit.edu	37	chr4	143081512	143081512	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatatacaagagacttaccCactcttcctcatcatagtct	12	12	4	13	1	4	1	2	0	2	1	5	3	5	1	2	0	2	0	2	0	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:143081512C>T	ENST00000513000.1	-	18	1995	c.1563_splice	c.e18+1	p.W521_splice	INPP4B_ENST00000508116.1_Splice_Site_p.W521_splice|INPP4B_ENST00000509777.1_Splice_Site_p.W521_splice|INPP4B_ENST00000308502.4_Splice_Site_p.W521_splice|INPP4B_ENST00000262992.4_Splice_Site_p.W521_splice	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	521					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GAGACTTACCCACTCTTCCTC	0.448													15	66					0	0	0	0	T	143081512	C	T	143081512	5	4	27	1	0	0	0	0	0	0	1	0	7806	608	21	4	1252	4	INPP4B	4	143081512	Splice_Site	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	14131642	143081512	48072764	211	5279											
HHIP	64399	broad.mit.edu	37	chr4	145580839	145580839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttgtgagtgggctgcGgcagcccgttggtgccctgc	3	9	19	10	2	0	1	0	1	0	0	0	2	0	2	2	5	4	4	2	5	0	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:145580839G>T	ENST00000296575.3	+	4	1335	c.680G>T	c.(679-681)cGg>cTg	p.R227L	HHIP_ENST00000434550.2_Missense_Mutation_p.R227L|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	227						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AGTGGGCTGCGGCAGCCCGTT	0.448													31	147					3.99451e-17	6.1881e-17	1	0	T	145580839	G	T	145580839	3	4	27	1	0	0	0	0	1	0	0	0	7142	1116	39	3	694	3	HHIP	4	145580839	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2499327	145580839	45573437	212	5280											
HHIP	64399	broad.mit.edu	37	chr4	145581005	145581005	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaaggttggctttttaaaTtttatttatttttgtgctgg	9	22	8	2	0	0	0	0	0	0	0	0	0	0	0	0	3	1	3	0	3	6	11			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:145581005T>A	ENST00000434550.2	+	4	1350	c.846T>A	c.(844-846)aaT>aaA	p.N282K	HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000296575.3_Intron|HHIP-AS1_ENST00000512359.1_RNA			Q96QV1	HHIP_HUMAN	hedgehog interacting protein	0						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCtttttaaattttatttatt	0.318													16	43					0	0	0	0	A	145581005	T	A	145581005	3	1	27	1	0	0	0	0	1	0	0	0	7142	1508	52	5		5	HHIP	4	145581005	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	166	145581005	45573271	213	5281											
CPE	1363	broad.mit.edu	37	chr4	166385593	166385593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatgggaatgaggctgttgGacgagaactgctcattttct	9	12	13	7	1	2	2	1	1	1	1	2	5	2	4	0	3	2	4	0	3	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:166385593G>T	ENST00000402744.4	+	2	639	c.359G>T	c.(358-360)gGa>gTa	p.G120V		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	120					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGGCTGTTGGACGAGAACTG	0.428											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	34					0.0293803	0.0298043	1	0	T	166385593	G	T	166385593	3	4	27	1	0	0	0	0	1	0	0	0	3829	1174	41	2	365	2	CPE	4	166385593	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	20804588	166385593	24768683	214	5282											
TLL1	7092	broad.mit.edu	37	chr4	166981314	166981314	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaatttctgtgaagtttGagttttttgaattggaaggc	11	16	11	3	0	1	4	0	3	1	1	1	5	1	5	0	2	0	2	0	2	4	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:166981314G>T	ENST00000061240.2	+	15	2628	c.1981G>T	c.(1981-1983)Gag>Tag	p.E661*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.E684*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	661	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTGAAGTTTGAGTTTTTTGA	0.398													13	47					7.05477e-17	1.08553e-16	1	0	T	166981314	G	T	166981314	4	4	27	1	0	0	0	0	0	1	0	0	16039	1291	45	2	2039	2	TLL1	4	166981314	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	595721	166981314	24172962	215	5283											
WDR17	116966	broad.mit.edu	37	chr4	177056261	177056261	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatgccatattcctagggAcatgtggaaactatctttga	11	15	8	7	0	1	1	0	1	1	0	2	3	2	3	2	2	2	0	2	2	5	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:177056261A>T	ENST00000393643.2	+	8	1353	c.1101A>T	c.(1099-1101)ggA>ggT	p.G367G	WDR17_ENST00000280190.4_Silent_p.G391G|WDR17_ENST00000508596.1_Silent_p.G367G|WDR17_ENST00000507824.2_Silent_p.G374G	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	391										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATTCCTAGGGACATGTGGAAA	0.328													13	51					0	0	0	0	T	177056261	A	T	177056261	2	4	27	1	0	0	0	0	0	0	0	1	17373	262	10	5		5	WDR17	4	177056261	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	10074947	177056261	14098015	216	5284											
WDR17	116966	broad.mit.edu	37	chr4	177094477	177094477	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgttcttgacctactgAgctatattcgtactgaaaaa	12	13	6	10	1	1	3	0	3	1	0	2	3	1	3	2	0	3	3	2	0	6	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:177094477A>T	ENST00000393643.2	+	26	3601	c.3349A>T	c.(3349-3351)Agc>Tgc	p.S1117C	WDR17_ENST00000280190.4_Missense_Mutation_p.S1141C|WDR17_ENST00000508596.1_Missense_Mutation_p.S1102C|WDR17_ENST00000507824.2_Missense_Mutation_p.S1116C	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1141										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGACCTACTGAGCTATATTCG	0.328													9	9					0	0	0	0	T	177094477	A	T	177094477	3	4	27	1	0	0	0	0	1	0	0	0	17373	304	11	5	3523	5	WDR17	4	177094477	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	38216	177094477	14059799	217	5285											
IRF2	3660	broad.mit.edu	37	chr4	185329416	185329416	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactaagccccagagatgacTcaactggttcttgctaggaa	12	10	9	10	0	2	2	1	1	1	1	2	4	2	3	2	2	4	2	2	2	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:185329416T>A	ENST00000393593.3	-	6	632	c.425A>T	c.(424-426)gAg>gTg	p.E142V	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	142					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGAGATGACTCAACTGGTTC	0.413													16	71					0	0	0	0	A	185329416	T	A	185329416	3	1	27	1	0	0	0	0	1	0	0	0	7881	1551	54	5	640	5	IRF2	4	185329416	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	8234939	185329416	5824860	218	5286											
DNAH5	1767	broad.mit.edu	37	chr5	13752341	13752341	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaataagcaaaggccttcCaagagaaaggctgtcttcca	14	9	8	10	0	2	1	1	0	1	1	4	2	4	1	3	2	1	2	3	2	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:13752341C>A	ENST00000265104.4	-	64	11034	c.10930G>T	c.(10930-10932)Gga>Tga	p.G3644*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3644	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGGCCTTCCAAGAGAAAGG	0.403									Kartagener syndrome				15	118					1.5739e-10	2.07283e-10	1	0	A	13752341	C	A	13752341	4	1	27	1	0	0	0	0	0	1	0	0	4641	603	21	4	3008	4	DNAH5	5	13752341	Nonsense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08		13752341	167162919	219	5287											
DNAH5	1767	broad.mit.edu	37	chr5	13794111	13794111	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagtcatcttctttccCgcaggagggccatatgttgt	10	12	9	10	1	3	0	1	0	2	0	4	1	4	1	2	2	1	2	2	2	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:13794111C>T	ENST00000265104.4	-	48	8048	c.7944G>A	c.(7942-7944)gcG>gcA	p.A2648A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2648	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTCTTTCCCGCAGGAGGGC	0.368									Kartagener syndrome				18	72					0	0	0	0	T	13794111	C	T	13794111	2	4	27	1	0	0	0	0	0	0	0	1	4641	639	23	1		1	DNAH5	5	13794111	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	41770	13794111	167121149	220	5288											
ANKH	56172	broad.mit.edu	37	chr5	14758587	14758587	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacgatcttctctactcAccattgcgtccatgaaagga	11	10	7	13	2	3	1	1	1	2	0	5	3	4	2	3	1	3	0	3	1	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:14758587A>T	ENST00000284268.6	-	3	763		c.e3+1			NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator						locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTCTACTCACCATTGCGTC	0.413													4	61					0	0	0	0	T	14758587	A	T	14758587	5	4	27	1	0	0	0	0	0	0	1	0	627	173	6	5	1084	5	ANKH	5	14758587	Splice_Site	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	964476	14758587	166156673	221	5289											
CDH12	1010	broad.mit.edu	37	chr5	21755700	21755700	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattaatattgaaaccaacCtaagagtataacaatgcata	19	11	5	6	0	0	3	0	2	0	1	0	3	0	3	2	0	4	2	2	0	9	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:21755700C>T	ENST00000382254.1	-	14	2971	c.1885_splice	c.e14+1	p.A629_splice	CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Splice_Site_p.A629_splice|CDH12_ENST00000522262.1_Splice_Site_p.A589_splice	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	629					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGAAACCAACCTAAGAGTATA	0.383										HNSCC(59;0.17)			3	25					0	0	0	0	T	21755700	C	T	21755700	5	4	27	1	0	0	0	0	0	0	1	0	3127	695	24	4	507	4	CDH12	5	21755700	Splice_Site	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	6997113	21755700	159159560	222	5290											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576271	33576271	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagacttgttgcatcctccTcagtcaggactggttcagaa	9	12	9	11	0	4	2	4	0	0	2	6	3	6	3	2	2	1	3	2	2	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:33576271T>A	ENST00000504830.1	-	19	4195	c.3860A>T	c.(3859-3861)gAg>gTg	p.E1287V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1202V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1287	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCATCCTCCTCAGTCAGGAC	0.493										HNSCC(64;0.19)			58	261					0	0	0	0	A	33576271	T	A	33576271	3	1	27	1	0	0	0	0	1	0	0	0	257	1551	54	5	948	5	ADAMTS12	5	33576271	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	11820571	33576271	147338989	223	5291											
ADAMTS12	81792	broad.mit.edu	37	chr5	33577057	33577057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcattctgggcctggatgtaGgtggagggacgggctttagt	6	11	18	6	1	1	0	0	0	1	0	1	3	1	3	1	6	0	3	1	6	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:33577057G>T	ENST00000504830.1	-	19	3409	c.3074C>A	c.(3073-3075)cCt>cAt	p.P1025H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P940H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1025	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCTGGATGTAGGTGGAGGGAC	0.537										HNSCC(64;0.19)			53	96					5.82388e-19	9.24137e-19	1	0	T	33577057	G	T	33577057	3	4	27	1	0	0	0	0	1	0	0	0	257	1000	35	4	1734	4	ADAMTS12	5	33577057	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	786	33577057	147338203	224	5292											
ADAMTS12	81792	broad.mit.edu	37	chr5	33881451	33881451	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtagtacacccagtcctCtgagccatccaaatctctct	9	12	5	15	0	4	1	0	1	4	0	7	1	6	1	4	0	2	2	4	0	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:33881451C>A	ENST00000504830.1	-	2	597	c.262G>T	c.(262-264)Gag>Tag	p.E88*	ADAMTS12_ENST00000515401.1_Nonsense_Mutation_p.E88*|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E88*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	88					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACCCAGTCCTCTGAGCCATCC	0.468										HNSCC(64;0.19)			87	144					8.45e-40	1.41972e-39	1	0	A	33881451	C	A	33881451	4	1	27	1	0	0	0	0	0	1	0	0	257	922	32	2	4614	2	ADAMTS12	5	33881451	Nonsense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	304394	33881451	147033809	225	5293											
AGXT2	64902	broad.mit.edu	37	chr5	35037089	35037089	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggcaagcttctctgcataTtcatgcattggagggtggaa	9	11	13	8	1	2	0	1	0	1	0	3	2	2	2	0	4	3	4	0	4	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:35037089T>C	ENST00000231420.6	-	4	644	c.444A>G	c.(442-444)gaA>gaG	p.E148E		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	148					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TCTCTGCATATTCATGCATTG	0.493													19	96					0	0	0	0	C	35037089	T	C	35037089	2	2	27	1	0	0	0	0	0	0	0	1	405	1490	52	5		5	AGXT2	5	35037089	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1155638	35037089	145878171	226	5294											
IL7R	3575	broad.mit.edu	37	chr5	35876532	35876532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcccattcttacttccctgGgatcaaatcaagaagaagca	14	9	7	11	0	3	2	2	0	1	2	4	3	4	3	2	1	3	1	2	1	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:35876532G>A	ENST00000303115.3	+	8	1453	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	442					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TACTTCCCTGGGATCAAATCA	0.478			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						8	56					0	0	0	0	A	35876532	G	A	35876532	3	1	27	1	0	0	0	0	1	0	0	0	7758	1233	43	4	1354	4	IL7R	5	35876532	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	839443	35876532	145038728	227	5295											
GDNF	2668	broad.mit.edu	37	chr5	37834853	37834853	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgggaaggcggacgcggTgtggagcagcaccaggcaga	10	2	19	10	4	0	1	0	0	0	1	0	4	0	4	1	6	3	3	1	6	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:37834853T>A	ENST00000326524.2	-	2	245	c.46A>T	c.(46-48)Acc>Tcc	p.T16S	GDNF_ENST00000515058.1_Missense_Mutation_p.T16S|GDNF_ENST00000381826.4_Missense_Mutation_p.T33S|GDNF_ENST00000427982.1_Missense_Mutation_p.T33S|GDNF_ENST00000344622.4_Missense_Mutation_p.T16S	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	16					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GCGGACGCGGTGTGGAGCAGC	0.726													37	56					0	0	0	0	A	37834853	T	A	37834853	3	1	27	1	0	0	0	0	1	0	0	0	6373	1696	59	5	596	5	GDNF	5	37834853	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1958321	37834853	143080407	228	5296											
PLCXD3	345557	broad.mit.edu	37	chr5	41313828	41313828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caatattgatgccactctctCctggcttctgcgtgcggacc	6	12	9	14	2	2	1	0	1	2	0	4	2	3	2	3	2	3	1	3	2	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:41313828C>G	ENST00000377801.3	-	3	931	c.857G>C	c.(856-858)gGa>gCa	p.G286A	PLCXD3_ENST00000328457.3_Missense_Mutation_p.G286A			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	286					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCCACTCTCTCCTGGCTTCTG	0.438													9	47					0	0	0	0	G	41313828	C	G	41313828	3	3	27	1	0	0	0	0	1	0	0	0	12115	855	30	2	112	2	PLCXD3	5	41313828	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3478975	41313828	139601432	229	5297											
PLCXD3	345557	broad.mit.edu	37	chr5	41382320	41382320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtggttgaagtccaagaaCactacctccttatggtgatc	12	11	9	9	0	0	3	0	2	0	1	3	3	2	3	3	2	2	1	3	2	6	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:41382320C>T	ENST00000377801.3	-	2	494	c.420G>A	c.(418-420)gtG>gtA	p.V140V	PLCXD3_ENST00000328457.3_Silent_p.V140V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	140	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGTCCAAGAACACTACCTCCT	0.408													46	85					0	0	0	0	T	41382320	C	T	41382320	2	4	27	1	0	0	0	0	0	0	0	1	12115	465	17	4		4	PLCXD3	5	41382320	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	68492	41382320	139532940	230	5298											
GHR	2690	broad.mit.edu	37	chr5	42719312	42719312	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaagaggacatttacatcaCcacagaaagccttaccactg	15	7	6	13	0	1	2	1	0	0	2	1	3	1	3	4	1	3	0	4	1	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:42719312C>A	ENST00000230882.4	+	10	1893	c.1703C>A	c.(1702-1704)aCc>aAc	p.T568N	GHR_ENST00000357703.3_Missense_Mutation_p.T546N|GHR_ENST00000537449.1_Missense_Mutation_p.T381N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	568					2-oxoglutarate metabolic process|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|JAK-STAT cascade|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)	ATTTACATCACCACAGAAAGC	0.483													12	29					2.27111e-07	2.74576e-07	1	0	A	42719312	C	A	42719312	3	1	27	1	0	0	0	0	1	0	0	0	6422	507	18	4	1737	4	GHR	5	42719312	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1336992	42719312	138195948	231	5299											
HCN1	348980	broad.mit.edu	37	chr5	45695847	45695847	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccttttccaccgccttctGgctcccaaacatgcggaggg	6	10	9	16	2	1	0	0	0	1	0	4	1	4	1	5	3	2	1	5	3	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:45695847G>C	ENST00000303230.4	-	1	406	c.349C>G	c.(349-351)Cag>Gag	p.Q117E		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	117	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCGCCTTCTGGCTCCCAAAC	0.607													14	34					0	0	0	0	C	45695847	G	C	45695847	3	2	27	1	0	0	0	0	1	0	0	0	7046	1357	47	4	2355	4	HCN1	5	45695847	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2976535	45695847	135219413	232	5300											
ITGA2	3673	broad.mit.edu	37	chr5	52344594	52344594	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggatataggccccacaaaGacacaggtatggctaacaga	15	6	10	10	0	0	2	0	0	0	2	0	3	0	3	2	4	1	2	2	4	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:52344594G>A	ENST00000296585.5	+	6	767	c.624G>A	c.(622-624)aaG>aaA	p.K208K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	208	VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCCCCACAAAGACACAGGTAT	0.333													4	53					0	0	0	0	A	52344594	G	A	52344594	2	1	27	1	0	0	0	0	0	0	0	1	7928	933	33	2		2	ITGA2	5	52344594	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	6648747	52344594	128570666	233	5301											
HSPB3	8988	broad.mit.edu	37	chr5	53751987	53751987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagtacaaactaccagatgGtgtggaaatcaaagatttgt	16	10	9	6	0	1	2	1	0	0	2	1	3	1	3	1	2	3	1	1	2	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:53751987G>T	ENST00000302005.1	+	1	543	c.368G>T	c.(367-369)gGt>gTt	p.G123V		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	123					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				CTACCAGATGGTGTGGAAATC	0.458													25	101					7.88262e-20	1.26621e-19	1	0	T	53751987	G	T	53751987	3	4	27	1	0	0	0	0	1	0	0	0	7473	1261	44	4	370	4	HSPB3	5	53751987	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1407393	53751987	127163273	234	5302											
HTR1A	3350	broad.mit.edu	37	chr5	63256868	63256868	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctttttgaccgtcttgcGgatgcggaagcgcgcagctc	6	10	12	13	5	1	1	0	1	1	0	2	3	1	3	2	2	4	2	2	2	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:63256868G>C	ENST00000323865.3	-	1	912	c.679C>G	c.(679-681)Cgc>Ggc	p.R227G	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	227					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACCGTCTTGCGGATGCGGAAG	0.582													23	107					0	0	0	0	C	63256868	G	C	63256868	3	2	27	1	0	0	0	0	1	0	0	0	7489	1116	39	3	592	3	HTR1A	5	63256868	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	9504881	63256868	117658392	235	5303											
RGS7BP	401190	broad.mit.edu	37	chr5	63871635	63871635	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccatccagaaatctgtCggctttacatccagctgcag	11	10	8	12	1	1	2	0	0	1	2	5	2	4	2	3	1	3	3	3	1	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:63871635C>A	ENST00000334025.2	+	3	693	c.367C>A	c.(367-369)Cgg>Agg	p.R123R	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	123					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		AGAAATCTGTCGGCTTTACAT	0.433													7	21					1	1	1	0	A	63871635	C	A	63871635	2	1	27	1	0	0	0	0	0	0	0	1	13394	875	31	3		3	RGS7BP	5	63871635	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	614767	63871635	117043625	236	5304											
RAD17	5884	broad.mit.edu	37	chr5	68709914	68709914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgatagaccctgacagcgGagatgaagcccagcttaatg	14	7	11	9	1	0	5	0	3	0	2	0	6	0	5	2	1	3	1	2	1	4	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:68709914G>T	ENST00000509734.1	+	18	2519	c.1841G>T	c.(1840-1842)gGa>gTa	p.G614V	RAD17_ENST00000521422.1_Missense_Mutation_p.G438V|RAD17_ENST00000358030.2_Missense_Mutation_p.G438V|RAD17_ENST00000354312.3_Missense_Mutation_p.G603V|RAD17_ENST00000305138.4_Missense_Mutation_p.G603V|RAD17_ENST00000354868.5_Missense_Mutation_p.G603V|RAD17_ENST00000345306.6_Missense_Mutation_p.G603V|RAD17_ENST00000380774.3_Missense_Mutation_p.G614V|RAD17_ENST00000504177.1_3'UTR|RAD17_ENST00000282891.6_Missense_Mutation_p.G517V|RAD17_ENST00000361732.2_Missense_Mutation_p.G603V			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	614	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CCTGACAGCGGAGATGAAGCC	0.488								Other conserved DNA damage response genes					29	80					5.60225e-13	7.90194e-13	1	0	T	68709914	G	T	68709914	3	4	27	1	0	0	0	0	1	0	0	0	13061	1174	41	2	1916	2	RAD17	5	68709914	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4838279	68709914	112205346	237	5305											
PDE8B	8622	broad.mit.edu	37	chr5	76703236	76703236	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagaatcgtcgctatccgtCcatggcgaggatccactcca	9	8	10	14	4	0	1	0	0	0	1	6	3	4	2	4	2	0	2	4	2	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:76703236C>A	ENST00000264917.5	+	13	1364	c.1319C>A	c.(1318-1320)tCc>tAc	p.S440Y	PDE8B_ENST00000340978.3_Missense_Mutation_p.S393Y|PDE8B_ENST00000333194.4_Missense_Mutation_p.S440Y|PDE8B_ENST00000346042.3_Missense_Mutation_p.S343Y|PDE8B_ENST00000342343.4_Missense_Mutation_p.S420Y	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	440					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CGCTATCCGTCCATGGCGAGG	0.602													14	86					5.01169e-05	5.57261e-05	1	0	A	76703236	C	A	76703236	3	1	27	1	0	0	0	0	1	0	0	0	11725	855	30	2	1369	2	PDE8B	5	76703236	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	7993322	76703236	104212024	238	5306											
DMGDH	29958	broad.mit.edu	37	chr5	78322355	78322355	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcattcatgatagcgtcataCagcgccacagaatcttctct	11	11	7	12	2	4	2	2	1	2	1	5	2	4	2	1	0	3	1	1	0	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:78322355C>A	ENST00000255189.3	-	13	2110	c.2082G>T	c.(2080-2082)ctG>ctT	p.L694L	DMGDH_ENST00000380311.4_Silent_p.L493L|DMGDH_ENST00000540686.1_Silent_p.L314L	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	694					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TAGCGTCATACAGCGCCACAG	0.507													16	44					2.23348e-06	2.60716e-06	1	0	A	78322355	C	A	78322355	2	1	27	1	0	0	0	0	0	0	0	1	4618	465	17	4		4	DMGDH	5	78322355	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1619119	78322355	102592905	239	5307											
BHMT	635	broad.mit.edu	37	chr5	78426858	78426858	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgaccaaaggaacagcCgagctgatgcagcagaaaga	16	3	14	8	1	0	4	0	2	0	2	0	7	0	6	2	2	5	3	2	2	3	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:78426858C>A	ENST00000274353.5	+	8	1247	c.1140C>A	c.(1138-1140)gcC>gcA	p.A380A	BHMT_ENST00000524080.1_Silent_p.A227A|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	380					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	AAGGAACAGCCGAGCTGATGC	0.478													36	147					4.0492e-12	5.59904e-12	1	0	A	78426858	C	A	78426858	2	1	27	1	0	0	0	0	0	0	0	1	1430	639	23	3		3	BHMT	5	78426858	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	104503	78426858	102488402	240	5308											
CMYA5	202333	broad.mit.edu	37	chr5	79029056	79029056	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagataaatctgaggaagcaAgggtagaagacaaacaagat	20	5	11	5	0	1	5	0	1	1	4	1	6	1	6	0	2	2	2	0	2	8	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:79029056A>G	ENST00000446378.2	+	2	4499	c.4468A>G	c.(4468-4470)Agg>Ggg	p.R1490G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1490						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGAGGAAGCAAGGGTAGAAGA	0.393													16	88					0	0	0	0	G	79029056	A	G	79029056	3	3	27	1	0	0	0	0	1	0	0	0	3620	63	3	5	4474	5	CMYA5	5	79029056	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	602198	79029056	101886204	241	5309											
XRCC4	7518	broad.mit.edu	37	chr5	82648965	82648965	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaggcctgattcttcactAcctgagacgtctaaaaagga	12	11	8	10	1	4	2	1	2	3	1	4	4	4	3	2	2	1	0	2	2	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:82648965A>C	ENST00000282268.3	+	8	1084	c.909A>C	c.(907-909)ctA>ctC	p.L303L	XRCC4_ENST00000338635.6_Silent_p.L305L|XRCC4_ENST00000396027.4_Silent_p.L303L|XRCC4_ENST00000511817.1_Silent_p.L305L	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	305					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		ATTCTTCACTACCTGAGACGT	0.343								Non-homologous end-joining					16	101					0	0	0	0	C	82648965	A	C	82648965	2	2	27	1	0	0	0	0	0	0	0	1	17551	378	14	5		5	XRCC4	5	82648965	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	3619909	82648965	98266295	242	5310											
HAPLN1	1404	broad.mit.edu	37	chr5	82948337	82948337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcacctcacacttatatCtcccataatcttccagagtg	12	12	3	14	0	4	1	2	0	2	1	6	1	5	1	3	0	0	0	3	0	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:82948337C>A	ENST00000274341.4	-	3	1257	c.407G>T	c.(406-408)aGa>aTa	p.R136I	HAPLN1_ENST00000514416.1_Missense_Mutation_p.R136I	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	136	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ACACTTATATCTCCCATAATC	0.418													12	81					0.0135373	0.0139651	1	0	A	82948337	C	A	82948337	3	1	27	1	0	0	0	0	1	0	0	0	7004	913	32	2	669	2	HAPLN1	5	82948337	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	299372	82948337	97966923	243	5311											
MEF2C	4208	broad.mit.edu	37	chr5	88057117	88057117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcggggtctgggctgtcaCagccattaaggcccttcttt	6	12	11	12	1	3	0	1	0	2	0	4	0	3	0	2	4	1	1	2	4	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:88057117C>A	ENST00000504921.2	-	4	959	c.287G>T	c.(286-288)tGt>tTt	p.C96F	MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000437473.2_Missense_Mutation_p.C96F|MEF2C_ENST00000508569.1_Missense_Mutation_p.C96F|MEF2C_ENST00000506554.1_Missense_Mutation_p.C96F|MEF2C_ENST00000514015.1_Missense_Mutation_p.C96F|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000340208.5_Missense_Mutation_p.C96F|MEF2C_ENST00000514028.1_Missense_Mutation_p.C96F|MEF2C_ENST00000510942.1_Missense_Mutation_p.C96F			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	96					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGGGCTGTCACAGCCATTAAG	0.443										HNSCC(66;0.2)			16	74					1.99824e-07	2.42226e-07	1	0	A	88057117	C	A	88057117	3	1	27	1	0	0	0	0	1	0	0	0	9526	478	17	4	1308	4	MEF2C	5	88057117	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	5108780	88057117	92858143	244	5312											
GPR98	84059	broad.mit.edu	37	chr5	89989858	89989858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggagaacttggatgaatGtctctgccgtgggggagccc	7	11	15	8	1	1	2	0	1	1	1	2	5	1	4	2	4	3	0	2	4	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:89989858G>A	ENST00000405460.2	+	33	7381	c.7285G>A	c.(7285-7287)Gtc>Atc	p.V2429I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2429					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGATGAATGTCTCTGCCGT	0.498													5	14					0	0	0	0	A	89989858	G	A	89989858	3	1	27	1	0	0	0	0	1	0	0	0	6771	1377	48	4	7415	4	GPR98	5	89989858	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1932741	89989858	90925402	245	5313											
ERAP2	64167	broad.mit.edu	37	chr5	96228050	96228050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggagccatggaaaattggGgcctcattacatatagggag	12	9	13	7	0	1	0	1	0	0	0	1	3	1	3	2	5	2	0	2	5	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:96228050G>A	ENST00000437043.3	+	6	1729	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.G295S	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	340					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGAAAATTGGGGCCTCATTAC	0.443													19	67					0	0	0	0	A	96228050	G	A	96228050	3	1	27	1	0	0	0	0	1	0	0	0	5242	1232	43	4	1036	4	ERAP2	5	96228050	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	6238192	96228050	84687210	246	5314											
RGMB	285704	broad.mit.edu	37	chr5	98129142	98129142	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggtgtctgccatcctGggacacagcctgcctcgcac	6	7	12	16	1	1	0	0	0	1	0	3	1	2	1	5	3	3	1	5	3	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:98129142G>C	ENST00000308234.7	+	5	1524	c.1122G>C	c.(1120-1122)ctG>ctC	p.L374L	RGMB_ENST00000513185.1_Silent_p.L333L	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	333					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CTGCCATCCTGGGACACAGCC	0.617													7	12					0	0	0	0	C	98129142	G	C	98129142	2	2	27	1	0	0	0	0	0	0	0	1	13363	1335	47	4		4	RGMB	5	98129142	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1901092	98129142	82786118	247	5315											
APC	324	broad.mit.edu	37	chr5	112178924	112178924	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttccaatcaataggtcaGgaacctggaaacgtgagcac	14	7	10	10	1	2	1	2	1	0	0	3	4	3	3	2	3	3	1	2	3	5	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:112178924G>T	ENST00000457016.1	+	16	8013	c.7633G>T	c.(7633-7635)Gga>Tga	p.G2545*	APC_ENST00000257430.4_Nonsense_Mutation_p.G2545*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.G2545*			P25054	APC_HUMAN	adenomatous polyposis coli	2545	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAATAGGTCAGGAACCTGGAA	0.438		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			19	70					6.33239e-15	9.38055e-15	1	0	T	112178924	G	T	112178924	4	4	27	1	0	0	0	0	0	1	0	0	764	1001	35	4	7691	4	APC	5	112178924	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	14049782	112178924	68736336	248	5316											
KCNN2	3781	broad.mit.edu	37	chr5	113798753	113798753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtttttcaggtaccatGatcaacaggatgttactagc	10	14	9	8	0	2	1	2	1	0	0	2	2	2	2	1	2	5	4	1	2	4	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:113798753G>T	ENST00000512097.3	+	5	2027	c.1009G>T	c.(1009-1011)Gat>Tat	p.D337Y	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Missense_Mutation_p.D337Y|KCNN2_ENST00000503706.1_5'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	337						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CAGGTACCATGATCAACAGGA	0.363													32	91					1.56738e-10	2.07283e-10	1	0	T	113798753	G	T	113798753	3	4	27	1	0	0	0	0	1	0	0	0	8132	1290	45	2	1023	2	KCNN2	5	113798753	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1619829	113798753	67116507	249	5317											
FTMT	94033	broad.mit.edu	37	chr5	121187881	121187881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccagaacttccaccccGactccgaggctgccatcaac	9	6	8	18	3	1	1	1	0	0	1	3	3	3	1	6	1	4	1	6	1	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:121187881G>T	ENST00000321339.1	+	1	232	c.223G>T	c.(223-225)Gac>Tac	p.D75Y		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	75	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTTCCACCCCGACTCCGAGGC	0.687													10	41					2.80697e-09	3.59828e-09	1	0	T	121187881	G	T	121187881	3	4	27	1	0	0	0	0	1	0	0	0	6133	1058	37	3	225	3	FTMT	5	121187881	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	7389128	121187881	59727379	250	5318											
CSNK1G3	1456	broad.mit.edu	37	chr5	122930768	122930768	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttgggactcccagcaGgcaaatccccaccatttgag	10	7	10	14	0	0	1	0	1	0	0	2	2	2	2	4	2	2	4	4	2	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:122930768G>A	ENST00000395412.1	+	11	1841	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000345990.4_Intron|CSNK1G3_ENST00000361991.2_Silent_p.Q374Q|CSNK1G3_ENST00000510842.2_Intron|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000395411.1_Silent_p.Q374Q|CSNK1G3_ENST00000360683.2_Silent_p.Q374Q|CSNK1G3_ENST00000521364.1_Intron	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	374					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		ACTCCCAGCAGGCAAATCCCC	0.443													8	31					0	0	0	0	A	122930768	G	A	122930768	2	1	27	1	0	0	0	0	0	0	0	1	3988	991	35	4		4	CSNK1G3	5	122930768	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1742887	122930768	57984492	251	5319											
FSTL4	23105	broad.mit.edu	37	chr5	132535254	132535254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtggggtgcctgttaCatcaccattggggccaagca	7	11	14	9	0	1	0	1	0	0	0	1	0	1	0	3	4	3	2	3	4	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:132535254C>T	ENST00000265342.7	-	16	2311	c.2062G>A	c.(2062-2064)Gta>Ata	p.V688I	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	688						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGCCTGTTACATCACCATTG	0.617													25	50					0	0	0	0	T	132535254	C	T	132535254	3	4	27	1	0	0	0	0	1	0	0	0	6127	478	17	4	470	4	FSTL4	5	132535254	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	9604486	132535254	48380006	252	5320											
MATR3	9782	broad.mit.edu	37	chr5	138657702	138657702	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacctgtctgagaaatataAaaaactggttctgagggtat	14	12	10	5	0	2	3	0	3	2	1	2	4	2	3	1	2	1	2	1	2	6	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:138657702A>T	ENST00000394800.2	+	14	2267	c.1718A>T	c.(1717-1719)aAa>aTa	p.K573I	MATR3_ENST00000502499.1_Missense_Mutation_p.K235I|MATR3_ENST00000503811.1_Missense_Mutation_p.K285I|MATR3_ENST00000361059.2_Missense_Mutation_p.K573I|MATR3_ENST00000502929.1_Missense_Mutation_p.K573I|MATR3_ENST00000394805.3_Missense_Mutation_p.K573I|MATR3_ENST00000504203.1_Missense_Mutation_p.K235I|MATR3_ENST00000509990.1_Missense_Mutation_p.K573I|MATR3_ENST00000510056.1_Missense_Mutation_p.K573I			P43243	MATR3_HUMAN	matrin 3	573						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGAAATATAAAAAACTGGTT	0.348													19	47					0	0	0	0	T	138657702	A	T	138657702	3	4	27	1	0	0	0	0	1	0	0	0	9406	14	1	5	1752	5	MATR3	5	138657702	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	6122448	138657702	42257558	253	5321											
SLC4A9	83697	broad.mit.edu	37	chr5	139741732	139741732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaaccctgtggtactggggtCccttactgaggtgtccctcc	5	11	12	13	0	0	1	0	1	0	0	3	2	3	1	4	4	3	1	4	4	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:139741732C>G	ENST00000230993.6	+	5	799	c.764C>G	c.(763-765)tCc>tGc	p.S255C	SLC4A9_ENST00000507527.1_Missense_Mutation_p.S255C|SLC4A9_ENST00000506757.2_Missense_Mutation_p.S231C|SLC4A9_ENST00000432095.2_Missense_Mutation_p.S231C|SLC4A9_ENST00000506545.1_Missense_Mutation_p.S231C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	255						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACTGGGGTCCCTTACTGAG	0.612													5	17					0	0	0	0	G	139741732	C	G	139741732	3	3	27	1	0	0	0	0	1	0	0	0	14748	855	30	2	710	2	SLC4A9	5	139741732	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1084030	139741732	41173528	254	5322											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347537	140347537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaatgaccaagactcaggcCccaaccggaaagtgagcctg	13	5	10	13	1	2	3	2	2	0	1	2	4	2	4	5	2	2	0	5	2	4	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140347537C>A	ENST00000289269.5	+	1	1718	c.1186C>A	c.(1186-1188)Ccc>Acc	p.P396T	PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		396	Cadherin 4.				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)			AGACTCAGGCCCCAACCGGAA	0.577													14	60					1.49906e-05	1.69153e-05	1	0	A	140347537	C	A	140347537	3	1	27	1	0	0	0	0	1	0	0	0	11604	623	22	4	1188	4	PCDHAC2	5	140347537	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	605805	140347537	40567723	255	5323											
PCDHB1	29930	broad.mit.edu	37	chr5	140432032	140432032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaagctacagatggtggagGcctctctgcccacagcaaag	11	7	11	12	0	2	1	1	0	1	1	3	2	2	2	2	3	4	2	2	3	3	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140432032G>T	ENST00000306549.3	+	1	1054	c.977G>T	c.(976-978)gGc>gTc	p.G326V		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		326	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATGGTGGAGGCCTCTCTGCC	0.498													20	101					9.95505e-16	1.50147e-15	1	0	T	140432032	G	T	140432032	3	4	27	1	0	0	0	0	1	0	0	0	11605	1203	42	4	979	4	PCDHB1	5	140432032	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	84495	140432032	40483228	256	5324											
PCDHB3	56132	broad.mit.edu	37	chr5	140481135	140481135	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatccaattactggtgataTgcaactggtcaaatatttga	15	13	7	6	0	1	2	1	2	0	0	2	2	2	2	1	2	3	1	1	2	7	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140481135T>A	ENST00000231130.2	+	1	902	c.902T>A	c.(901-903)aTg>aAg	p.M301K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		301	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGGTGATATGCAACTGGTC	0.378													4	37					0	0	0	0	A	140481135	T	A	140481135	3	1	27	1	0	0	0	0	1	0	0	0	11614	1464	51	5	904	5	PCDHB3	5	140481135	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	49103	140481135	40434125	257	5325											
PCDHB4	56131	broad.mit.edu	37	chr5	140503477	140503477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgctgagcgagcgcGacgcagccaagcacaggctc	9	3	14	15	4	0	1	0	1	0	0	1	3	0	1	2	2	5	5	2	2	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140503477G>T	ENST00000194152.1	+	1	1897	c.1897G>T	c.(1897-1899)Gac>Tac	p.D633Y		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		633	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCGAGCGCGACGCAGCCAA	0.682													26	62					1.17739e-12	1.65052e-12	1	0	T	140503477	G	T	140503477	3	4	27	1	0	0	0	0	1	0	0	0	11615	1058	37	3	1899	3	PCDHB4	5	140503477	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	22342	140503477	40411783	258	5326											
PCDHB4	56131	broad.mit.edu	37	chr5	140503803	140503803	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggacgtaagcggcacCgggaccctgtcccagagcta	8	6	14	13	3	0	1	0	0	0	1	1	3	1	3	3	4	2	3	3	4	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140503803C>T	ENST00000194152.1	+	1	2223	c.2223C>T	c.(2221-2223)acC>acT	p.T741T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		741					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAGCGGCACCGGGACCCTGT	0.622													54	139					0	0	0	0	T	140503803	C	T	140503803	2	4	27	1	0	0	0	0	0	0	0	1	11615	639	23	1		1	PCDHB4	5	140503803	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	326	140503803	40411457	259	5327											
PCDHB11	56125	broad.mit.edu	37	chr5	140579947	140579947	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagttctggacaaggcgctGgattatgaagagctcccgga	10	10	13	8	2	1	2	0	1	1	1	2	5	2	5	1	4	1	3	1	4	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140579947G>C	ENST00000354757.3	+	1	600	c.600G>C	c.(598-600)ctG>ctC	p.L200L	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		200	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAAGGCGCTGGATTATGAAG	0.493													8	46					0	0	0	0	C	140579947	G	C	140579947	2	2	27	1	0	0	0	0	0	0	0	1	11607	1335	47	4		4	PCDHB11	5	140579947	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	76144	140579947	40335313	260	5328											
PCDHB13	56123	broad.mit.edu	37	chr5	140595647	140595647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggacaatggcgagcctcCgcgctcggccaccgccacgc	8	3	12	18	6	0	0	0	0	0	0	2	2	1	1	5	3	1	1	5	3	2	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140595647C>T	ENST00000341948.4	+	1	2139	c.1952C>T	c.(1951-1953)cCg>cTg	p.P651L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		651	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGCCTCCGCGCTCGGCC	0.726													13	64					0	0	0	0	T	140595647	C	T	140595647	3	4	27	1	0	0	0	0	1	0	0	0	11609	652	23	1	1954	1	PCDHB13	5	140595647	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	15700	140595647	40319613	261	5329											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751387	140751387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccattgcgcatgtcagaGcctcggatcccgacttggga	7	9	11	14	3	1	1	1	0	0	1	4	4	3	3	4	2	2	1	4	2	0	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140751387G>T	ENST00000576222.1	+	1	1557	c.1426G>T	c.(1426-1428)Gcc>Tcc	p.A476S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGTCAGAGCCTCGGATCC	0.592													32	99					5.91797e-21	9.6075e-21	1	0	T	140751387	G	T	140751387	3	4	27	1	0	0	0	0	1	0	0	0	11635	971	34	4	1428	4	PCDHGB3	5	140751387	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	155740	140751387	40163873	262	5330											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768979	140768979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccataagcgcggagagcGgggtggtgttcgcgcagcgc	6	7	18	10	6	0	1	0	0	0	1	2	2	1	1	1	4	3	2	1	4	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140768979G>A	ENST00000519479.1	+	1	1528	c.1528G>A	c.(1528-1530)Ggg>Agg	p.G510R	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGAGCGGGGTGGTGTT	0.662													12	80					0	0	0	0	A	140768979	G	A	140768979	3	1	27	1	0	0	0	0	1	0	0	0	11636	1116	39	1	1530	1	PCDHGB4	5	140768979	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	17592	140768979	40146281	263	5331											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802640	140802640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcttaaggccagcgagccgGgactcttcgcggtgggggag	6	7	18	10	4	1	0	0	0	1	0	2	3	1	2	2	5	3	1	2	5	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140802640G>C	ENST00000398587.2	+	1	1879	c.1846G>C	c.(1846-1848)Gga>Cga	p.G616R	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G616R|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGAGCCGGGACTCTTCGC	0.652													38	88					0	0	0	0	C	140802640	G	C	140802640	3	2	27	1	0	0	0	0	1	0	0	0	11623	1233	43	4	1848	4	PCDHGA11	5	140802640	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	33661	140802640	40112620	264	5332											
TCERG1	10915	broad.mit.edu	37	chr5	145883507	145883507	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacaaaagaaatagatcgaGagagagagcagcacaaacga	23	2	10	6	2	0	4	0	0	0	4	1	8	0	4	0	0	4	2	0	0	6	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:145883507G>C	ENST00000296702.5	+	18	2706	c.2668G>C	c.(2668-2670)Gag>Cag	p.E890Q	TCERG1_ENST00000509787.1_3'UTR|TCERG1_ENST00000394421.2_Missense_Mutation_p.E869Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	890					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATAGATCGAGAGAGAGAGCA	0.418													19	38					0	0	0	0	C	145883507	G	C	145883507	3	2	27	1	0	0	0	0	1	0	0	0	15779	943	33	2	2738	2	TCERG1	5	145883507	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5080867	145883507	35031753	265	5333											
PPP2R2B	5521	broad.mit.edu	37	chr5	146017861	146017861	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccgcatgtcacacagcCggattgtccctttgctgctg	6	11	10	14	2	1	0	1	0	0	0	2	1	2	1	3	1	4	3	3	1	0	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:146017861C>A	ENST00000394413.3	-	6	1313	c.743G>T	c.(742-744)cGg>cTg	p.R248L	PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R306L|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R314L|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R248L|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R237L|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R254L|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R248L|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R248L|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R251L|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R237L			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	248					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCACACAGCCGGATTGTCCC	0.587													7	60					0.000157383	0.000171862	1	0	A	146017861	C	A	146017861	3	1	27	1	0	0	0	0	1	0	0	0	12461	652	23	3	604	3	PPP2R2B	5	146017861	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	134354	146017861	34897399	266	5334											
GRIA1	2890	broad.mit.edu	37	chr5	153085450	153085450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattgtttttgcctacattgGagtgagtgttgtcctcttcc	5	18	9	9	0	1	1	0	1	1	0	3	2	3	2	3	1	2	2	3	1	1	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:153085450G>T	ENST00000285900.5	+	11	1989	c.1646G>T	c.(1645-1647)gGa>gTa	p.G549V	GRIA1_ENST00000518783.1_Missense_Mutation_p.G559V|GRIA1_ENST00000518142.1_Missense_Mutation_p.G469V|GRIA1_ENST00000521843.2_Missense_Mutation_p.G480V|GRIA1_ENST00000340592.5_Missense_Mutation_p.G549V|GRIA1_ENST00000448073.4_Missense_Mutation_p.G559V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	549					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCTACATTGGAGTGAGTGTT	0.473													18	80					5.03518e-11	6.76788e-11	1	0	T	153085450	G	T	153085450	3	4	27	1	0	0	0	0	1	0	0	0	6817	1174	41	2	1688	2	GRIA1	5	153085450	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	7067589	153085450	27829810	267	5335											
HAND1	9421	broad.mit.edu	37	chr5	153855371	153855371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgggcctcggctcactGgtttaactccagcgcccaga	6	7	13	15	4	1	1	1	0	0	1	3	1	2	1	3	4	2	2	3	4	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:153855371G>T	ENST00000231121.2	-	2	898	c.643C>A	c.(643-645)Cag>Aag	p.Q215K		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	215					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCGGCTCACTGGTTTAACTCC	0.677													5	39					0.000602214	0.00064528	1	0	T	153855371	G	T	153855371	3	4	27	1	0	0	0	0	1	0	0	0	6999	1357	47	4	8	4	HAND1	5	153855371	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	769921	153855371	27059889	268	5336											
LARP1	23367	broad.mit.edu	37	chr5	154179521	154179521	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacactacccaagggcctGtctgccagcctgcctgacct	9	7	9	16	0	1	2	0	1	1	1	1	2	1	2	6	1	4	0	6	1	3	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:154179521G>T	ENST00000336314.4	+	10	1428	c.1404G>T	c.(1402-1404)ctG>ctT	p.L468L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	545	HTH La-type RNA-binding.						protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCAAGGGCCTGTCTGCCAGCC	0.592													6	45					0.0293803	0.0298043	1	0	T	154179521	G	T	154179521	2	4	27	1	0	0	0	0	0	0	0	1	8681	1364	48	4		4	LARP1	5	154179521	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	324150	154179521	26735739	269	5337											
ATP10B	23120	broad.mit.edu	37	chr5	160044982	160044982	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatattaatgtcaggtacTgtcaaatagccattttcccg	11	14	6	10	1	2	0	2	0	0	0	4	0	4	0	3	1	2	1	3	1	5	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:160044982T>G	ENST00000327245.5	-	16	3263		c.e16-2		CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B						ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCAGGTACTGTCAAATAGC	0.458													6	48					0	0	0	0	G	160044982	T	G	160044982	5	3	27	1	0	0	0	0	0	0	1	0	1121	1594	55	5	2014	5	ATP10B	5	160044982	Splice_Site	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	5865461	160044982	20870278	270	5338											
GABRB2	2561	broad.mit.edu	37	chr5	160721245	160721245	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcgacttttcttttgcGccacatgtcgttccagagca	7	13	9	12	3	2	1	1	0	1	1	4	2	3	1	2	1	2	2	2	1	0	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:160721245G>C	ENST00000274547.2	-	11	1599	c.1382C>G	c.(1381-1383)gCg>gGg	p.A461G	GABRB2_ENST00000393959.1_Missense_Mutation_p.A461G|GABRB2_ENST00000517547.1_Missense_Mutation_p.A263G|GABRB2_ENST00000517901.1_Missense_Mutation_p.A360G|GABRB2_ENST00000520240.1_Missense_Mutation_p.A423G|GABRB2_ENST00000353437.6_Missense_Mutation_p.A423G	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	461					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTCTTTTGCGCCACATGTCG	0.517													6	51					0	0	0	0	C	160721245	G	C	160721245	3	2	27	1	0	0	0	0	1	0	0	0	6215	1087	38	3	160	3	GABRB2	5	160721245	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	676263	160721245	20194015	271	5339											
GABRA6	2559	broad.mit.edu	37	chr5	161117215	161117215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttccaacaggtgaatacGttataatgacagtttacttc	12	14	7	8	1	1	2	0	2	1	0	3	2	2	2	1	1	3	2	1	1	6	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:161117215G>T	ENST00000523217.1	+	7	894	c.652G>T	c.(652-654)Gtt>Ttt	p.V218F	GABRA6_ENST00000274545.5_Missense_Mutation_p.V228F	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	228					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.V228I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGTGAATACGTTATAATGAC	0.358										TCGA Ovarian(5;0.080)			7	44					2.0095e-06	2.3487e-06	1	0	T	161117215	G	T	161117215	3	4	27	1	0	0	0	0	1	0	0	0	6213	1145	40	3	708	3	GABRA6	5	161117215	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	395970	161117215	19798045	272	5340											
WWC1	23286	broad.mit.edu	37	chr5	167882461	167882461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccaggggccatttcttcGagggagcaccatcatccgct	7	9	11	14	2	2	0	1	0	1	0	5	2	4	1	4	3	1	2	4	3	0	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:167882461G>T	ENST00000265293.4	+	19	3261	c.2759G>T	c.(2758-2760)cGa>cTa	p.R920L	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.R920L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	920	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CCATTTCTTCGAGGGAGCACC	0.642													41	117					1.5731e-28	2.60474e-28	1	0	T	167882461	G	T	167882461	3	4	27	1	0	0	0	0	1	0	0	0	17507	1058	37	3	2833	3	WWC1	5	167882461	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	6765246	167882461	13032799	273	5341											
GABRP	2568	broad.mit.edu	37	chr5	170222388	170222388	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgtgggaaacaggctCatccgcctcttctccaatgg	8	10	10	13	1	4	0	2	0	2	0	6	1	5	1	3	3	1	1	3	3	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:170222388C>A	ENST00000518525.1	+	6	881	c.417C>A	c.(415-417)ctC>ctA	p.L139L	GABRP_ENST00000265294.4_Silent_p.L139L|GABRP_ENST00000519598.1_Silent_p.L139L|GABRP_ENST00000519385.1_Silent_p.L139L			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	139						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAACAGGCTCATCCGCCTCT	0.572													16	73					1.5739e-10	2.07283e-10	1	0	A	170222388	C	A	170222388	2	1	27	1	0	0	0	0	0	0	0	1	6222	813	29	2		2	GABRP	5	170222388	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2339927	170222388	10692872	274	5342											
ZNF454	285676	broad.mit.edu	37	chr5	178391743	178391743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatggacaataaaggaaaGattcagtagcagtagtcact	17	9	9	6	0	3	1	3	0	0	1	3	3	3	3	0	2	1	3	0	2	7	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:178391743G>T	ENST00000320129.3	+	5	641	c.338G>T	c.(337-339)aGa>aTa	p.R113I	ZNF454_ENST00000519564.1_Missense_Mutation_p.R113I	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATAAAGGAAAGATTCAGTAGC	0.468													12	37					3.07112e-06	3.55317e-06	1	0	T	178391743	G	T	178391743	3	4	27	1	0	0	0	0	1	0	0	0	18018	942	33	2	352	2	ZNF454	5	178391743	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	8169355	178391743	2523517	275	5343											
DUSP22	56940	broad.mit.edu	37	chr6	348268	348268	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagtttgagaagcatgaggtCcatcaggtaagcagttctta	12	11	12	6	0	2	2	1	2	1	1	3	4	3	2	1	2	2	5	1	2	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:348268C>G	ENST00000604971.1	+	3	1233	c.120C>G	c.(118-120)gtC>gtG	p.V40V	DUSP22_ENST00000605863.1_Silent_p.V40V|DUSP22_ENST00000603453.1_Silent_p.V40V|DUSP22_ENST00000605315.1_Silent_p.V40V|DUSP22_ENST00000344450.5_Silent_p.V143V|DUSP22_ENST00000605035.1_Silent_p.V40V|DUSP22_ENST00000419235.2_Silent_p.V143V			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	143					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGCATGAGGTCCATCAGGTAA	0.587													13	107					0	0	0	0	G	348268	C	G	348268	2	3	27	1	0	0	0	0	0	0	0	1	4857	842	30	2		2	DUSP22	6	348268	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08		348268	170766799	276	5344											
RPP40	10799	broad.mit.edu	37	chr6	5004205	5004205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaaccagtaagtgccgcGgcgcctcccgaagccggcgc	8	3	13	17	7	0	0	0	0	0	0	1	1	1	0	5	2	3	2	5	2	3	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:5004205G>A	ENST00000380051.2	-	1	76	c.32C>T	c.(31-33)cCg>cTg	p.P11L	RPP40_ENST00000319533.5_Missense_Mutation_p.P11L	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	11					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TAAGTGCCGCGGCGCCTCCCG	0.672											OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	81					0	0	0	0	A	5004205	G	A	5004205	3	1	27	1	0	0	0	0	1	0	0	0	13699	1116	39	1	1091	1	RPP40	6	5004205	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4655937	5004205	166110862	277	5345											
DEK	7913	broad.mit.edu	37	chr6	18264160	18264160	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcatttcgggttctttcTcggacgcgggctgggtgggg	2	11	19	9	5	2	0	0	0	2	0	4	1	2	1	0	7	0	3	0	7	0	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:18264160T>A	ENST00000397239.3	-	2	506	c.59A>T	c.(58-60)gAg>gTg	p.E20V	DEK_ENST00000244776.7_Missense_Mutation_p.E20V	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	20					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GGGTTCTTTCTCGGACGCGGG	0.662			T	NUP214	AML								17	37					0	0	0	0	A	18264160	T	A	18264160	3	1	27	1	0	0	0	0	1	0	0	0	4461	1551	54	5	1108	5	DEK	6	18264160	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	13259955	18264160	152850907	278	5346											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056503	26056503	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaactccgctacgctcttTagaggcggccacagccttgg	9	8	11	13	3	1	2	0	0	1	2	2	2	2	2	3	3	3	2	3	3	3	4	rs141424312		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:26056503T>C	ENST00000343677.2	-	1	196	c.154A>G	c.(154-156)Aaa>Gaa	p.K52E		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	52	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CTACGCTCTTTAGAGGCGGCC	0.557													38	94					0	0	0	0	C	26056503	T	C	26056503	3	2	27	1	0	0	0	0	1	0	0	0	7174	1763	61	5	491	5	HIST1H1C	6	26056503	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	7792343	26056503	145058564	279	5347											
ZNF184	7738	broad.mit.edu	37	chr6	27420077	27420077	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctttcccacattcatTgcattcgtacggtttttcac	8	15	7	11	2	2	0	2	0	0	0	4	1	3	0	1	2	2	4	1	2	2	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:27420077T>G	ENST00000211936.6	-	6	1545	c.1261A>C	c.(1261-1263)Aat>Cat	p.N421H	ZNF184_ENST00000377419.1_Missense_Mutation_p.N421H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CCACATTCATTGCATTCGTAC	0.413													24	50					0	0	0	0	G	27420077	T	G	27420077	3	3	27	1	0	0	0	0	1	0	0	0	17846	1812	63	5	998	5	ZNF184	6	27420077	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1363574	27420077	143694990	280	5348											
OR2B6	26212	broad.mit.edu	37	chr6	27925229	27925229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatctatcactcctggatCtttgttacaccacatgtaca	11	13	4	13	0	3	0	1	0	2	0	4	1	4	1	3	1	2	2	3	1	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:27925229C>A	ENST00000244623.1	+	1	211	c.211C>A	c.(211-213)Ctt>Att	p.L71I		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTCCTGGATCTTTGTTACAC	0.408													19	79					6.33239e-15	9.38055e-15	1	0	A	27925229	C	A	27925229	3	1	27	1	0	0	0	0	1	0	0	0	11062	913	32	2	213	2	OR2B6	6	27925229	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	505152	27925229	143189838	281	5349											
OR5V1	81696	broad.mit.edu	37	chr6	29323353	29323353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacaaaggaaaggagtccaaCcaatgaagaccccagtggat	17	5	10	9	0	0	2	0	1	0	1	1	5	1	5	4	3	2	0	4	3	6	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:29323353C>T	ENST00000377154.1	-	4	919	c.620G>A	c.(619-621)gGt>gAt	p.G207D	OR5V1_ENST00000543825.1_Missense_Mutation_p.G207D			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGAGTCCAACCAATGAAGAC	0.443													20	60					0	0	0	0	T	29323353	C	T	29323353	3	4	27	1	0	0	0	0	1	0	0	0	11255	507	18	4	348	4	OR5V1	6	29323353	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1398124	29323353	141791714	282	5350											
OR11A1	26531	broad.mit.edu	37	chr6	29395018	29395018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggccccatcaggagtGggtagtggagtgggtagcaa	8	8	18	7	0	2	0	1	0	1	0	2	2	2	2	2	5	1	3	2	5	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:29395018G>A	ENST00000377149.1	-	5	873	c.401C>T	c.(400-402)cCa>cTa	p.P134L	OR11A1_ENST00000377148.1_Missense_Mutation_p.P134L|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.P134L			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P134Q(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CATCAGGAGTGGGTAGTGGAG	0.562													14	47					0	0	0	0	A	29395018	G	A	29395018	3	1	27	1	0	0	0	0	1	0	0	0	10995	1348	47	4	550	4	OR11A1	6	29395018	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	71665	29395018	141720049	283	5351											
OR10C1	442194	broad.mit.edu	37	chr6	29407903	29407903	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactatctacctgctgacCgtggcaggcaatttcctcat	8	12	7	14	1	3	1	2	1	1	0	4	1	4	1	3	2	2	3	3	2	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:29407903C>G	ENST00000444197.2	+	1	821	c.111C>G	c.(109-111)acC>acG	p.T37T	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACCTGCTGACCGTGGCAGGCA	0.557													21	92					0	0	0	0	G	29407903	C	G	29407903	2	3	27	1	0	0	0	0	0	0	0	1	10969	639	23	3		3	OR10C1	6	29407903	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	12885	29407903	141707164	284	5352											
OR10C1	442194	broad.mit.edu	37	chr6	29408263	29408263	+	Frame_Shift_Del	DEL	C	C	-																															ggggtgctggtggggctgggCcacacccctttcatcttctc																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:29408263delC	ENST00000444197.2	+	1	1181	c.471delC	c.(469-471)ggfs	p.G157fs	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGGGCTGGGCCACACCCCTT	0.617													28	115	---	---	---	---					-	29408263	C	-	29408263	7	5	27	1	0	1	0	1	0	0	0	0	10969	726	26	0	473	0	OR10C1	6	29408263	Frame_Shift_Del	DEL	C	TCGA-BA-A6DA-01A-31D-A31L-08	360	29408263	141706804	285	5353											
MUC21	394263	broad.mit.edu	37	chr6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaccctccagtggggccAgcacagccaccaactctgac	10	4	9	18	0	1	1	0	1	1	0	2	1	2	1	5	2	3	2	5	2	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:30954349A>G	ENST00000376296.3	+	2	638	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	133	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612													5	319					0	0	0	0	G	30954349	A	G	30954349	3	3	27	1	0	0	0	0	1	0	0	0	10047	188	7	5	403	5	MUC21	6	30954349	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	1546086	30954349	140160718	286	5354											
MCCD1	401250	broad.mit.edu	37	chr6	31497642	31497642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgggaggcccaagcccTggtgctcaagatccagaagc	10	5	13	13	0	1	2	1	0	0	2	2	3	2	3	4	3	4	1	4	3	3	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:31497642T>C	ENST00000376191.2	+	2	588	c.290T>C	c.(289-291)cTg>cCg	p.L97P		NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1	97						mitochondrion				skin(1)	1						GCCCAAGCCCTGGTGCTCAAG	0.622													7	11					0	0	0	0	C	31497642	T	C	31497642	3	2	27	1	0	0	0	0	1	0	0	0	9445	1580	55	5	296	5	MCCD1	6	31497642	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	543293	31497642	139617425	287	5355											
TNXB	7148	broad.mit.edu	37	chr6	32029422	32029422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctgtcactgttagctccCccaggagcggctcctcaggg	6	9	11	15	1	2	0	2	0	0	0	5	1	5	1	4	3	2	3	4	3	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:32029422C>A	ENST00000375244.3	-	21	7445	c.7244G>T	c.(7243-7245)gGg>gTg	p.G2415V	TNXB_ENST00000375247.2_Missense_Mutation_p.G2415V			P22105	TENX_HUMAN	tenascin XB	2475	Fibronectin type-III 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTTAGCTCCCCCAGGAGCGG	0.642													19	79					1.36565e-18	2.15207e-18	1	0	A	32029422	C	A	32029422	3	1	27	1	0	0	0	0	1	0	0	0	16440	623	22	4	7565	4	TNXB	6	32029422	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	531780	32029422	139085645	288	5356											
TAPBP	6892	broad.mit.edu	37	chr6	33281481	33281481	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagactcaccgtgtacactGagatagagctcagggtcgag	12	7	13	9	2	2	3	2	1	0	3	3	6	2	3	1	1	2	2	1	1	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:33281481G>A	ENST00000434618.2	-	2	543	c.198C>T	c.(196-198)ctC>ctT	p.L66L	TAPBP_ENST00000489157.1_Silent_p.L66L|TAPBP_ENST00000456592.2_Silent_p.L66L|TAPBP_ENST00000426633.2_Silent_p.L66L|TAPBP_ENST00000475304.1_Silent_p.L66L	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	66					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CGTGTACACTGAGATAGAGCT	0.667													16	44					0	0	0	0	A	33281481	G	A	33281481	2	1	27	1	0	0	0	0	0	0	0	1	15643	1277	45	2		2	TAPBP	6	33281481	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1252059	33281481	137833586	289	5357											
KIFC1	3833	broad.mit.edu	37	chr6	33374378	33374378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcatctaggagtcccacGtgccttaccggaacagcaaa	13	7	8	13	2	2	0	1	0	1	0	3	2	3	2	3	2	4	1	3	2	5	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:33374378G>T	ENST00000428849.2	+	9	2287	c.1837G>T	c.(1837-1839)Gtg>Ttg	p.V613L		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	613					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GGAGTCCCACGTGCCTTACCG	0.552													15	66					5.01169e-05	5.57261e-05	1	0	T	33374378	G	T	33374378	3	4	27	1	0	0	0	0	1	0	0	0	8363	1145	40	3	1871	3	KIFC1	6	33374378	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	92897	33374378	137740689	290	5358											
SCUBE3	222663	broad.mit.edu	37	chr6	35210479	35210479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagggcaagggccgacggGcccggacccctccaggcaaa	10	1	16	14	3	0	0	0	0	0	0	1	3	1	2	5	6	0	2	5	6	3	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:35210479G>T	ENST00000274938.7	+	14	1615	c.1615G>T	c.(1615-1617)Gcc>Tcc	p.A539S	SCUBE3_ENST00000394681.1_Missense_Mutation_p.A555S	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	539					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GGGCCGACGGGCCCGGACCCC	0.622													36	104					1.03484e-13	1.49422e-13	1	0	T	35210479	G	T	35210479	3	4	27	1	0	0	0	0	1	0	0	0	14033	1203	42	4	1669	4	SCUBE3	6	35210479	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1836101	35210479	135904588	291	5359											
SRPK1	6732	broad.mit.edu	37	chr6	35837403	35837403	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agactggcacaccatggtgtCtgacacctcagatgttatag	11	10	10	10	0	2	3	1	1	1	2	2	3	2	3	2	2	0	2	2	2	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:35837403C>G	ENST00000373825.2	-	11	1552	c.1267G>C	c.(1267-1269)Gac>Cac	p.D423H	SRPK1_ENST00000423325.2_Missense_Mutation_p.D407H|SRPK1_ENST00000373822.1_Missense_Mutation_p.D316H			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	423	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						ACCATGGTGTCTGACACCTCA	0.438													16	44					0	0	0	0	G	35837403	C	G	35837403	3	3	27	1	0	0	0	0	1	0	0	0	15249	913	32	2	724	2	SRPK1	6	35837403	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	626924	35837403	135277664	292	5360											
DNAH8	1769	broad.mit.edu	37	chr6	38881726	38881726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcttccataaaagcagacGaagtgagtttgcatttattt	12	14	9	6	1	0	2	0	1	0	1	1	3	1	2	1	1	2	4	1	1	4	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:38881726G>A	ENST00000359357.3	+	65	9564	c.9310G>A	c.(9310-9312)Gaa>Aaa	p.E3104K	DNAH8_ENST00000449981.2_Missense_Mutation_p.E3321K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E3068K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAAGCAGACGAAGTGAGTTT	0.368													7	27					0	0	0	0	A	38881726	G	A	38881726	3	1	27	1	0	0	0	0	1	0	0	0	4643	1059	37	1	9560	1	DNAH8	6	38881726	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3044323	38881726	132233341	293	5361											
DAAM2	23500	broad.mit.edu	37	chr6	39841077	39841077	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaagaagctgaagtacAcggaggcctacccctgcctg	11	6	10	14	1	0	2	0	1	0	1	1	3	1	3	5	2	4	2	5	2	5	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:39841077A>C	ENST00000538976.1	+	10	1290	c.1108A>C	c.(1108-1110)Acg>Ccg	p.T370P	DAAM2_ENST00000398904.2_Missense_Mutation_p.T370P|DAAM2_ENST00000274867.4_Missense_Mutation_p.T370P	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	370	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCTGAAGTACACGGAGGCCTA	0.567													7	17					0	0	0	0	C	39841077	A	C	39841077	3	2	27	1	0	0	0	0	1	0	0	0	4249	159	6	5	1142	5	DAAM2	6	39841077	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	959351	39841077	131273990	294	5362											
UNC5CL	222643	broad.mit.edu	37	chr6	41001649	41001649	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggtggatgcgacactcAtcccgggaggcgtgggcccc	7	5	17	12	3	1	1	1	0	0	1	2	5	2	3	3	5	1	0	3	5	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:41001649A>C	ENST00000244565.3	-	3	745	c.657T>G	c.(655-657)gaT>gaG	p.D219E	UNC5CL_ENST00000373164.1_Missense_Mutation_p.D219E	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	219	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCGACACTCATCCCGGGAGG	0.627													11	32					0	0	0	0	C	41001649	A	C	41001649	3	2	27	1	0	0	0	0	1	0	0	0	17090	214	8	5	927	5	UNC5CL	6	41001649	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	1160572	41001649	130113418	295	5363											
TREML2	79865	broad.mit.edu	37	chr6	41162343	41162343	+	Missense_Mutation	SNP	G	G	T																															gggaccccatggtcctcctgGgtccctggctggtggtgctg																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:41162343G>T	ENST00000483722.1	-	3	790	c.605C>A	c.(604-606)cCc>cAc	p.P202H		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	202					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGTCCTCCTGGGTCCCTGGCT	0.612													11	29					0.010729	0.0110806	1	0	T	41162343	G	T	41162343	3	4	27	1	0	0	0	0	1	0	0	0	16568	1232	43	4	372	4	TREML2	6	41162343	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	160694	41162343	129952724	296	5364	52	2									
TREML2	79865	broad.mit.edu	37	chr6	41162351	41162351	+	Missense_Mutation	SNP	G	G	T																															atggtcctcctgggtccctgGctggtggtgctggtagcagt																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:41162351G>T	ENST00000483722.1	-	3	782	c.597C>A	c.(595-597)agC>agA	p.S199R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	199					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.S258S(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGTCCCTGGCTGGTGGTGC	0.602													10	27					0.00621372	0.00644647	1	0	T	41162351	G	T	41162351	3	4	27	1	0	0	0	0	1	0	0	0	16568	1194	42	4	380	4	TREML2	6	41162351	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	8	41162351	129952716	297	5365	52	2									
PKHD1	5314	broad.mit.edu	37	chr6	51890828	51890828	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaacagtgggagcgccCgcatcgggtatctggggggc	6	6	19	10	3	1	0	0	0	1	0	2	2	1	2	1	6	2	3	1	6	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:51890828C>G	ENST00000371117.3	-	32	4055	c.3780G>C	c.(3778-3780)gcG>gcC	p.A1260A	PKHD1_ENST00000340994.4_Silent_p.A1260A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1260	IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGGAGCGCCCGCATCGGGTA	0.592													10	47					0	0	0	0	G	51890828	C	G	51890828	2	3	27	1	0	0	0	0	0	0	0	1	12043	639	23	3		3	PKHD1	6	51890828	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	10728477	51890828	119224239	298	5366											
BAI3	577	broad.mit.edu	37	chr6	70048838	70048838	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcctcatagcggtttgacGctcaaatgtgccaagtgtgg	9	10	13	9	2	2	1	2	1	0	0	2	2	2	1	2	2	3	2	2	2	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:70048838G>C	ENST00000370598.1	+	25	4040	c.3219G>C	c.(3217-3219)acG>acC	p.T1073T	BAI3_ENST00000238918.8_Silent_p.T279T|BAI3_ENST00000546190.1_Silent_p.T37T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1073					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCGGTTTGACGCTCAAATGTG	0.418													46	139					0	0	0	0	C	70048838	G	C	70048838	2	2	27	1	0	0	0	0	0	0	0	1	1304	1074	38	3		3	BAI3	6	70048838	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	18158010	70048838	101066229	299	5367											
B3GAT2	135152	broad.mit.edu	37	chr6	71571434	71571434	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagattaaccttctctgtccGagtgtgccacacgagaacct	10	11	8	12	2	1	2	0	0	1	2	3	4	2	2	4	0	3	0	4	0	3	3	rs149616588	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:71571434G>T	ENST00000230053.6	-	4	1512	c.904C>A	c.(904-906)Cgg>Agg	p.R302R	SMAP1_ENST00000370455.3_3'UTR	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	302					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TTCTCTGTCCGAGTGTGCCAC	0.493													14	56					1.49906e-05	1.69153e-05	1	0	T	71571434	G	T	71571434	2	4	27	1	0	0	0	0	0	0	0	1	1258	1057	37	3		3	B3GAT2	6	71571434	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1522596	71571434	99543633	300	5368											
MYO6	4646	broad.mit.edu	37	chr6	76551080	76551080	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaacttcatttgagttcAccagataattttcgggtagg	13	13	9	6	1	2	2	2	1	0	1	3	3	2	2	1	2	1	2	1	2	4	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:76551080A>T	ENST00000369981.3	+	9	1080	c.801A>T	c.(799-801)tcA>tcT	p.S267S	MYO6_ENST00000369977.3_Silent_p.S267S|MYO6_ENST00000369985.4_Silent_p.S267S|MYO6_ENST00000369975.1_Silent_p.S267S			Q9UM54	MYO6_HUMAN	myosin VI	267	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ATTTGAGTTCACCAGATAATT	0.408													5	34					0	0	0	0	T	76551080	A	T	76551080	2	4	27	1	0	0	0	0	0	0	0	1	10151	146	6	5		5	MYO6	6	76551080	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	4979646	76551080	94563987	301	5369											
IMPG1	3617	broad.mit.edu	37	chr6	76657113	76657113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaatcctccaagaccccGtgcacagccttggtgaggtt	10	8	10	13	2	0	2	0	1	0	1	2	3	2	2	5	2	2	2	5	2	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:76657113G>T	ENST00000369950.3	-	14	2151	c.1962C>A	c.(1960-1962)caC>caA	p.H654Q	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	654	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCAAGACCCCGTGCACAGCCT	0.443													14	35					2.48551e-13	3.54407e-13	1	0	T	76657113	G	T	76657113	3	4	27	1	0	0	0	0	1	0	0	0	7781	1136	40	3	447	3	IMPG1	6	76657113	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	106033	76657113	94457954	302	5370											
CGA	1081	broad.mit.edu	37	chr6	87797907	87797907	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatagctgcatattttctGtagtaatccatggcgctcct	10	14	8	9	1	1	1	0	0	1	1	3	1	3	1	2	1	2	5	2	1	5	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:87797907G>A	ENST00000369582.2	-	2	112	c.12C>T	c.(10-12)taC>taT	p.Y4Y		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	4					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		CATATTTTCTGTAGTAATCCA	0.413													4	16					0	0	0	0	A	87797907	G	A	87797907	2	1	27	1	0	0	0	0	0	0	0	1	3324	1372	48	4		4	CGA	6	87797907	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	11140794	87797907	83317160	303	5371											
ZNF292	23036	broad.mit.edu	37	chr6	87964977	87964978	+	Frame_Shift_Del	DEL	TG	TG	-																															ggcaagcctacatgcagtatTgtgtgttgtgtgacaaagaa																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:87964977_87964978delTG	ENST00000369577.3	+	8	1673_1674	c.1630_1631delTG	c.(1630-1632)tfs	p.C544fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.C539fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATGCAGTATTGTGTGTTGTGT	0.391													7	35	---	---	---	---					-	87964978	TG	-	87964977	7	5	27	1	0	1	0	1	0	0	0	0	17921	1812	63	0	1660	0	ZNF292	6	87964977	Frame_Shift_Del	DEL	TG	TCGA-BA-A6DA-01A-31D-A31L-08	167070	87964977	83150090	304	5372											
MAP3K7	6885	broad.mit.edu	37	chr6	91226340	91226340	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttttatgttcctgtacCaggcgagatgtattttgctg	7	17	10	7	1	0	1	0	0	0	1	1	2	1	1	2	1	3	5	2	1	3	8			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:91226340C>G	ENST00000369329.3	-	17	1862	c.1701G>C	c.(1699-1701)ctG>ctC	p.L567L	MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369332.3_Silent_p.L540L|MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369320.1_Silent_p.L221L|MAP3K7_ENST00000479630.1_5'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	567					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTTCCTGTACCAGGCGAGATG	0.383													14	40					0	0	0	0	G	91226340	C	G	91226340	2	3	27	1	0	0	0	0	0	0	0	1	9324	581	21	4		4	MAP3K7	6	91226340	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3261363	91226340	79888727	305	5373											
MANEA	79694	broad.mit.edu	37	chr6	96034606	96034606	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaacttggatgaactaccAcctctgaacaattatctaca	14	12	4	11	0	2	2	0	2	2	0	2	3	2	3	2	1	5	0	2	1	7	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:96034606A>G	ENST00000358812.4	+	2	425	c.291A>G	c.(289-291)ccA>ccG	p.P97P	MANEA_ENST00000369293.1_Silent_p.P97P	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	97	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ATGAACTACCACCTCTGAACA	0.328													13	65					0	0	0	0	G	96034606	A	G	96034606	2	3	27	1	0	0	0	0	0	0	0	1	9290	146	6	5		5	MANEA	6	96034606	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	4808266	96034606	75080461	306	5374											
ASCC3	10973	broad.mit.edu	37	chr6	101075745	101075745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atattgagccaatcagcaagGtctctggcattagctaatgc	12	11	9	9	0	2	1	1	1	1	0	3	1	2	1	1	2	4	3	1	2	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:101075745G>C	ENST00000369162.2	-	28	4838	c.4494C>G	c.(4492-4494)gaC>gaG	p.D1498E		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1498	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATCAGCAAGGTCTCTGGCAT	0.328													12	32					0	0	0	0	C	101075745	G	C	101075745	3	2	27	1	0	0	0	0	1	0	0	0	1037	1252	44	4	2174	4	ASCC3	6	101075745	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5041139	101075745	70039322	307	5375											
NR2E1	7101	broad.mit.edu	37	chr6	108492688	108492688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagatatcccctgcaaaGtgtgtggcgaccgcagctcg	8	11	11	11	3	0	1	0	0	0	1	2	2	1	1	3	1	2	3	3	1	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:108492688G>T	ENST00000368986.4	+	2	760	c.52G>T	c.(52-54)Gtg>Ttg	p.V18L	NR2E1_ENST00000368983.3_Missense_Mutation_p.V55L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	18					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CCCCTGCAAAGTGTGTGGCGA	0.577													38	159					1.59361e-14	2.3455e-14	1	0	T	108492688	G	T	108492688	3	4	27	1	0	0	0	0	1	0	0	0	10696	1029	36	4	58	4	NR2E1	6	108492688	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	7416943	108492688	62622379	308	5376											
SESN1	27244	broad.mit.edu	37	chr6	109321818	109321818	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggggtccccaccaacaTgaaggaaatcatttacatgc	13	9	8	11	0	1	1	1	1	0	0	2	2	2	2	3	3	3	0	3	3	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:109321818T>A	ENST00000436639.2	-	4	1350	c.605A>T	c.(604-606)cAt>cTt	p.H202L	SESN1_ENST00000302071.2_Missense_Mutation_p.H77L|SESN1_ENST00000356644.7_Missense_Mutation_p.H143L	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	143					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CCCACCAACATGAAGGAAATC	0.383													17	41					0	0	0	0	A	109321818	T	A	109321818	3	1	27	1	0	0	0	0	1	0	0	0	14211	1464	51	5	1078	5	SESN1	6	109321818	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	829130	109321818	61793249	309	5377											
HDAC2	3066	broad.mit.edu	37	chr6	114264637	114264637	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaatctgagaattctTcatcacaagctatccgcttg	11	12	6	12	1	5	2	3	1	2	2	6	3	6	2	2	0	1	2	2	0	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:114264637T>A	ENST00000519065.1	-	12	1632	c.1256A>T	c.(1255-1257)gAa>gTa	p.E419V	HDAC2_ENST00000368632.2_Missense_Mutation_p.E389V|HDAC2_ENST00000398283.2_Missense_Mutation_p.E513V|HDAC2_ENST00000519108.1_Missense_Mutation_p.E389V			Q92769	HDAC2_HUMAN	histone deacetylase 2	419					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	TGAGAATTCTTCATCACAAGC	0.358													10	39					0	0	0	0	A	114264637	T	A	114264637	3	1	27	1	0	0	0	0	1	0	0	0	7057	1783	62	5	222	5	HDAC2	6	114264637	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	4942819	114264637	56850430	310	5378											
HEY2	23493	broad.mit.edu	37	chr6	126080456	126080456	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatgacatcctccatggcCcaccaccatcatccgctcca	9	7	5	20	1	1	1	1	1	0	0	5	1	5	1	8	1	0	1	8	1	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:126080456C>T	ENST00000368364.3	+	5	719	c.522C>T	c.(520-522)gcC>gcT	p.A174A	HEY2_ENST00000368365.1_Silent_p.A128A	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	174					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCTCCATGGCCCACCACCATC	0.677													49	158					0	0	0	0	T	126080456	C	T	126080456	2	4	27	1	0	0	0	0	0	0	0	1	7129	610	22	4		4	HEY2	6	126080456	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	11815819	126080456	45034611	311	5379											
TMEM200A	114801	broad.mit.edu	37	chr6	130762867	130762867	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagggatatatgaaactaGagaacaaagaagacccgatg	19	5	11	6	1	0	4	0	1	0	3	0	7	0	5	1	1	2	1	1	1	8	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:130762867G>T	ENST00000392429.1	+	2	3678	c.1300G>T	c.(1300-1302)Gag>Tag	p.E434*	TMEM200A_ENST00000296978.3_Nonsense_Mutation_p.E434*|TMEM200A_ENST00000545622.1_Nonsense_Mutation_p.E434*	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	434						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TATGAAACTAGAGAACAAAGA	0.453													10	44					0.000978159	0.00104322	1	0	T	130762867	G	T	130762867	4	4	27	1	0	0	0	0	0	1	0	0	16217	943	33	2	1302	2	TMEM200A	6	130762867	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4682411	130762867	40352200	312	5380											
TAAR9	134860	broad.mit.edu	37	chr6	132860136	132860136	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagatagaaagtacagccagCcaagctcagtcctcctcaga	15	6	8	12	0	2	3	2	0	0	3	4	3	4	3	4	0	4	2	4	0	5	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:132860136C>G	ENST00000434551.1	+	0	708					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GTACAGCCAGCCAAGCTCAGT	0.423													17	46					0	0	0	0	G	132860136	C	G	132860136	1	3	27	0	1	0	0	0	0	0	0	0	15585	738	26	4		4	TAAR9	6	132860136	RNA	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2097269	132860136	38254931	313	5381											
TAAR5	9038	broad.mit.edu	37	chr6	132910545	132910545	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcagctctccactgagCgaatggtgctgaggggcagc	9	6	14	12	1	1	2	0	2	1	0	2	3	1	2	2	3	5	4	2	3	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:132910545C>A	ENST00000258034.2	-	1	332	c.281G>T	c.(280-282)cGc>cTc	p.R94L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	94					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CTCCACTGAGCGAATGGTGCT	0.587													47	99					5.78141e-17	8.91098e-17	1	0	A	132910545	C	A	132910545	3	1	27	1	0	0	0	0	1	0	0	0	15582	768	27	3	736	3	TAAR5	6	132910545	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	50409	132910545	38204522	314	5382											
KIAA1244	57221	broad.mit.edu	37	chr6	138584503	138584503	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcgggcaggtccgacgtgtCagacattgggtcggacaact	8	8	14	11	4	1	1	1	0	0	1	4	3	2	2	1	4	1	1	1	4	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:138584503C>G	ENST00000251691.4	+	12	2049	c.1883C>G	c.(1882-1884)tCa>tGa	p.S628*		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	628	SEC7.				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)		TCCGACGTGTCAGACATTGGG	0.532													54	155					0	0	0	0	G	138584503	C	G	138584503	4	3	27	1	0	0	0	0	0	1	0	0	8268	838	29	2	1929	2	KIAA1244	6	138584503	Nonsense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	5673958	138584503	32530564	315	5383											
UTRN	7402	broad.mit.edu	37	chr6	145093085	145093085	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaccatcctaaaatgacCgaactctttcaatcccttgg	11	11	7	12	1	2	1	1	1	1	0	4	3	4	2	4	2	1	0	4	2	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:145093085C>A	ENST00000367545.3	+	58	8538	c.8538C>A	c.(8536-8538)acC>acA	p.T2846T	UTRN_ENST00000367526.4_Silent_p.T401T	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2846	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTAAAATGACCGAACTCTTTC	0.269													13	67					5.01169e-05	5.57261e-05	1	0	A	145093085	C	A	145093085	2	1	27	1	0	0	0	0	0	0	0	1	17199	639	23	3		3	UTRN	6	145093085	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	6508582	145093085	26021982	316	5384											
PLEKHG1	57480	broad.mit.edu	37	chr6	151089835	151089835	+	Frame_Shift_Del	DEL	C	C	-																															ggggaccgaagaaagatcagCcctttttggaaacatacagg																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:151089835delC	ENST00000367328.1	+	4	785	c.473delC	c.(472-474)gcfs	p.A158fs	PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.A158fs	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	158	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAAAGATCAGCCCTTTTTGGA	0.388													7	46	---	---	---	---					-	151089835	C	-	151089835	7	5	27	1	0	1	0	1	0	0	0	0	12140	739	26	0	479	0	PLEKHG1	6	151089835	Frame_Shift_Del	DEL	C	TCGA-BA-A6DA-01A-31D-A31L-08	5996750	151089835	20025232	317	5385											
SYNE1	23345	broad.mit.edu	37	chr6	152639309	152639309	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggccagtggcttaccCagttggccattctgttccaa	6	14	9	12	0	2	0	0	0	2	0	3	0	3	0	4	3	1	3	4	3	2	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:152639309C>A	ENST00000367255.5	-	86	17080	c.16479G>T	c.(16477-16479)ctG>ctT	p.L5493L	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Silent_p.L5422L|SYNE1_ENST00000265368.4_Silent_p.L5493L|SYNE1_ENST00000448038.1_Silent_p.L5422L|SYNE1_ENST00000356820.4_Silent_p.L17L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5493					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGGCTTACCCAGTTGGCCAT	0.448										HNSCC(10;0.0054)			25	76					5.61819e-17	8.67403e-17	1	0	A	152639309	C	A	152639309	2	1	27	1	0	0	0	0	0	0	0	1	15536	581	21	4		4	SYNE1	6	152639309	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1549474	152639309	18475758	318	5386											
SYNE1	23345	broad.mit.edu	37	chr6	152768656	152768656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgccagctcatctccctgCttttgggcttcattctcaga	5	16	7	13	0	4	1	3	0	2	1	6	1	4	1	2	1	3	3	2	1	0	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:152768656C>A	ENST00000367255.5	-	29	4207	c.3606G>T	c.(3604-3606)aaG>aaT	p.K1202N	SYNE1_ENST00000367248.3_Missense_Mutation_p.K1192N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K1268N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1202N|SYNE1_ENST00000367253.4_Missense_Mutation_p.K1202N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K1209N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1202N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1209N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1202					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCTCCCTGCTTTTGGGCTT	0.458										HNSCC(10;0.0054)			17	42					0.000422831	0.000459534	1	0	A	152768656	C	A	152768656	3	1	27	1	0	0	0	0	1	0	0	0	15536	796	28	4	23332	4	SYNE1	6	152768656	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	129347	152768656	18346411	319	5387											
SYNE1	23345	broad.mit.edu	37	chr6	152823790	152823790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcctcttgcccatcagtgCttgcattgtggatgtcagga	7	13	10	11	0	3	0	2	0	1	0	4	2	4	2	2	2	3	2	2	2	0	3	rs139190745		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:152823790C>A	ENST00000367255.5	-	10	1467	c.866G>T	c.(865-867)aGc>aTc	p.S289I	SYNE1_ENST00000367248.3_Missense_Mutation_p.S296I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S289I|SYNE1_ENST00000466159.2_Missense_Mutation_p.S289I|SYNE1_ENST00000413186.2_Missense_Mutation_p.S289I|SYNE1_ENST00000367253.4_Missense_Mutation_p.S289I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S296I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S289I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S296I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	289	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCATCAGTGCTTGCATTGTG	0.378										HNSCC(10;0.0054)			7	31					2.0095e-06	2.3487e-06	1	0	A	152823790	C	A	152823790	3	1	27	1	0	0	0	0	1	0	0	0	15536	797	28	4	26148	4	SYNE1	6	152823790	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	55134	152823790	18291277	320	5388											
NOX3	50508	broad.mit.edu	37	chr6	155774613	155774613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taattgcctcctccacggtcCtctgcagcactagagtaaca	10	10	7	14	1	1	1	0	0	1	1	4	1	4	1	4	1	4	3	4	1	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:155774613C>T	ENST00000159060.2	-	4	367	c.265G>A	c.(265-267)Gga>Aga	p.G89R		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	89	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTCCACGGTCCTCTGCAGCAC	0.393													41	136					0	0	0	0	T	155774613	C	T	155774613	3	4	27	1	0	0	0	0	1	0	0	0	10627	690	24	4	1481	4	NOX3	6	155774613	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2950823	155774613	15340454	321	5389											
WTAP	9589	broad.mit.edu	37	chr6	160174647	160174647	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttaaaagcagtcaggatgGtaaggggtttgtttcttttt	9	16	12	4	0	2	0	1	0	1	0	2	1	2	1	0	4	1	5	0	4	3	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:160174647G>C	ENST00000358372.4	+	7	2364		c.e7+1		SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein						cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AGTCAGGATGGTAAGGGGTTT	0.408													14	48					0	0	0	0	C	160174647	G	C	160174647	5	2	27	1	0	0	0	0	0	0	1	0	17505	1275	44	4	634	4	WTAP	6	160174647	Splice_Site	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4400034	160174647	10940420	322	5390											
MICALL2	79778	broad.mit.edu	37	chr7	1478575	1478575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagccagttgtcacaaaCgtcgaggctggcagggacgg	10	5	15	11	4	1	0	1	0	0	0	2	3	1	1	2	4	2	3	2	4	2	1	rs142157538	by1000genomes	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:1478575C>T	ENST00000297508.7	-	10	2198	c.2023G>A	c.(2023-2025)Gtt>Att	p.V675I	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.V463I	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	675						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TTGTCACAAACGTCGAGGCTG	0.677													18	43					0	0	0	0	T	1478575	C	T	1478575	3	4	27	1	0	0	0	0	1	0	0	0	9643	536	19	1	723	1	MICALL2	7	1478575	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08		1478575	157660088	323	5391											
INTS1	26173	broad.mit.edu	37	chr7	1526596	1526596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgctccttgctctcgccctCgtcgtcctcctccccggaag	2	11	8	20	4	1	0	0	0	1	0	8	1	5	1	6	1	2	2	6	1	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:1526596C>G	ENST00000389470.4	-	22	3216	c.3217G>C	c.(3217-3219)Gag>Cag	p.E1073Q	INTS1_ENST00000404767.3_Missense_Mutation_p.E930Q			Q8N201	INT1_HUMAN	integrator complex subunit 1	930					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTCTCGCCCTCGTCGTCCTCC	0.692													4	15					0	0	0	0	G	1526596	C	G	1526596	3	3	27	1	0	0	0	0	1	0	0	0	7828	893	31	3	3896	3	INTS1	7	1526596	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	48021	1526596	157612067	324	5392											
ZNF12	7559	broad.mit.edu	37	chr7	6731953	6731953	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaaatacgaattttctgaTaaagactttcttcatttaga	15	15	4	7	1	3	3	1	1	2	2	3	4	3	3	1	0	1	0	1	0	7	8			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:6731953T>A	ENST00000405858.1	-	5	1161	c.620A>T	c.(619-621)tAt>tTt	p.Y207F	ZNF12_ENST00000342651.5_Missense_Mutation_p.Y169F|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.Y133F	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	207					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AATTTTCTGATAAAGACTTTC	0.343													6	21					0	0	0	0	A	6731953	T	A	6731953	3	1	27	1	0	0	0	0	1	0	0	0	17813	1406	49	5	1477	5	ZNF12	7	6731953	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	5205357	6731953	152406710	325	5393											
PHF14	9678	broad.mit.edu	37	chr7	11068350	11068350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcgctttgctagaactgggGtttgcattagctgtgatgca	7	14	12	8	1	0	2	0	1	0	1	1	2	0	2	0	2	5	6	0	2	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:11068350G>T	ENST00000403050.3	+	7	1812	c.1360G>T	c.(1360-1362)Gtt>Ttt	p.V454F	PHF14_ENST00000445996.2_Missense_Mutation_p.V169F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	454							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TAGAACTGGGGTTTGCATTAG	0.463													13	29					0.00185496	0.00196004	1	0	T	11068350	G	T	11068350	3	4	27	1	0	0	0	0	1	0	0	0	11897	1261	44	4	1386	4	PHF14	7	11068350	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4336397	11068350	148070313	326	5394											
DNAH11	8701	broad.mit.edu	37	chr7	21631181	21631181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagatggctgcaagatcCacaacttggtcgaggtaatg	13	8	13	7	1	0	2	0	0	0	2	2	4	1	2	1	4	2	3	1	4	4	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:21631181C>A	ENST00000328843.6	+	14	2684	c.2653C>A	c.(2653-2655)Cac>Aac	p.H885N	DNAH11_ENST00000409508.3_Missense_Mutation_p.H885N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	885	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGCAAGATCCACAACTTGGT	0.403									Kartagener syndrome				14	59					6.31663e-08	7.79136e-08	1	0	A	21631181	C	A	21631181	3	1	27	1	0	0	0	0	1	0	0	0	4636	594	21	4	2707	4	DNAH11	7	21631181	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	10562831	21631181	137507482	327	5395											
HOXA3	3200	broad.mit.edu	37	chr7	27149906	27149906	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagagggaggcgggggCgcggcaggggtaggtgcagg	8	2	25	6	3	0	2	0	0	0	2	0	3	0	3	0	9	1	4	0	9	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:27149906C>A	ENST00000396352.4	-	2	553	c.354G>T	c.(352-354)gcG>gcT	p.A118A	HOXA3_ENST00000317201.2_Silent_p.A118A|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	118	Pro-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						gaggcgggggcgcggcagggg	0.736													7	23					0.00198382	0.00209136	1	0	A	27149906	C	A	27149906	2	1	27	1	0	0	0	0	0	0	0	1	7343	755	27	3		3	HOXA3	7	27149906	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	5518725	27149906	131988757	328	5396											
JAZF1	221895	broad.mit.edu	37	chr7	28031598	28031598	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctaaaacccgtggatctgTatctgtaataaaaacacaat	16	12	5	8	1	3	0	0	0	3	0	3	1	3	1	1	1	2	2	1	1	8	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:28031598T>A	ENST00000283928.5	-	2	283	c.118A>T	c.(118-120)Aca>Tca	p.T40S		NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	40					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CGTGGATCTGTATCTGTAATA	0.323			T	SUZ12	endometrial stromal tumours								11	50					0	0	0	0	A	28031598	T	A	28031598	3	1	27	1	0	0	0	0	1	0	0	0	7999	1638	57	5	629	5	JAZF1	7	28031598	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	881692	28031598	131107065	329	5397											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31123813	31123813	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcggaacccttccctcAttactttgatgcctgtgggt	5	14	10	12	1	1	1	1	1	0	0	3	2	2	2	3	3	3	0	3	3	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:31123813A>T	ENST00000304166.4	+	7	675	c.386A>T	c.(385-387)cAt>cTt	p.H129L	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.H129L|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.H129L|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.H108L	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	129	Important for ligand binding and specificity.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CCCTTCCCTCATTACTTTGAT	0.542													13	75					0	0	0	0	T	31123813	A	T	31123813	3	4	27	1	0	0	0	0	1	0	0	0	303	217	8	5	408	5	ADCYAP1R1	7	31123813	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	3092215	31123813	128014850	330	5398											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31126602	31126602	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgggctacgctgagactctActttgatgacacagggttag	9	11	13	8	1	1	3	0	3	1	1	1	4	1	3	0	2	2	3	0	2	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:31126602A>G	ENST00000304166.4	+	11	1158	c.869A>G	c.(868-870)tAc>tGc	p.Y290C	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.Y290C|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.Y290C|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.Y269C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	290					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGAGACTCTACTTTGATGAC	0.502													34	102					0	0	0	0	G	31126602	A	G	31126602	3	3	27	1	0	0	0	0	1	0	0	0	303	391	14	5	907	5	ADCYAP1R1	7	31126602	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	2789	31126602	128012061	331	5399											
FKBP9	11328	broad.mit.edu	37	chr7	33044860	33044860	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctttgatgctgagctgaTtgtgaagaatatgttcacca	10	14	11	6	0	1	5	1	4	0	1	1	5	1	5	1	1	2	4	1	1	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:33044860T>C	ENST00000242209.4	+	10	1779	c.1610T>C	c.(1609-1611)aTt>aCt	p.I537T	FKBP9_ENST00000538443.1_Missense_Mutation_p.I399T|FKBP9_ENST00000490776.2_Missense_Mutation_p.I305T|FKBP9_ENST00000538336.1_Missense_Mutation_p.I590T|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	537	EF-hand 2.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGAGCTGATTGTGAAGAAT	0.498													13	74					0	0	0	0	C	33044860	T	C	33044860	3	2	27	1	0	0	0	0	1	0	0	0	5960	1493	52	5	1648	5	FKBP9	7	33044860	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1918258	33044860	126093803	332	5400											
ANLN	54443	broad.mit.edu	37	chr7	36438973	36438973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaacttgcagagcaacGgcgccgttgggataatgatg	13	7	13	8	3	0	2	0	1	0	1	0	3	0	3	1	2	4	4	1	2	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:36438973G>T	ENST00000265748.2	+	3	679	c.458G>T	c.(457-459)cGg>cTg	p.R153L	ANLN_ENST00000396068.2_Missense_Mutation_p.R153L	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	153	Interaction with CD2AP.|Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCAGAGCAACGGCGCCGTTGG	0.448													15	40					6.72482e-11	8.9599e-11	1	0	T	36438973	G	T	36438973	3	4	27	1	0	0	0	0	1	0	0	0	693	1116	39	3	468	3	ANLN	7	36438973	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3394113	36438973	122699690	333	5401											
ANLN	54443	broad.mit.edu	37	chr7	36458900	36458900	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggatgatgatgatatcaatAgttcgaaagtaattaatgac	16	13	9	3	1	1	4	1	4	0	0	2	6	1	5	0	1	0	2	0	1	6	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:36458900A>T	ENST00000265748.2	+	10	1902	c.1681A>T	c.(1681-1683)Agt>Tgt	p.S561C	ANLN_ENST00000396068.2_Missense_Mutation_p.S524C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	561	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGATATCAATAGTTCGAAAGT	0.363													20	51					0	0	0	0	T	36458900	A	T	36458900	3	4	27	1	0	0	0	0	1	0	0	0	693	420	15	5	1719	5	ANLN	7	36458900	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	19927	36458900	122679763	334	5402											
ELMO1	9844	broad.mit.edu	37	chr7	36917673	36917673	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactctcttctaagtctccGtaatgcaggactttgtgatt	8	15	9	9	1	3	1	0	1	3	0	5	3	3	3	1	2	1	2	1	2	2	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:36917673G>T	ENST00000310758.4	-	19	2411	c.1764C>A	c.(1762-1764)taC>taA	p.Y588*	ELMO1_ENST00000341056.3_Nonsense_Mutation_p.Y290*|ELMO1_ENST00000442504.1_Nonsense_Mutation_p.Y588*|ELMO1_ENST00000396045.3_Nonsense_Mutation_p.Y108*|ELMO1_ENST00000396040.2_Nonsense_Mutation_p.Y108*|ELMO1_ENST00000448602.1_Nonsense_Mutation_p.Y588*	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	588	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTAAGTCTCCGTAATGCAGGA	0.458													4	20					3.59834e-05	4.03049e-05	1	0	T	36917673	G	T	36917673	4	4	27	1	0	0	0	0	0	1	0	0	5103	1140	40	3	435	3	ELMO1	7	36917673	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	458773	36917673	122220990	335	5403											
ELMO1	9844	broad.mit.edu	37	chr7	37172764	37172764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcttggtggtgcttggCaaagtacagcatgttgtcca	8	12	13	8	0	1	0	0	0	1	0	2	0	2	0	1	4	3	6	1	4	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:37172764C>T	ENST00000310758.4	-	14	1809	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	ELMO1_ENST00000341056.3_Missense_Mutation_p.A90T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A388T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A388T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	388	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGGTGCTTGGCAAAGTACAGC	0.443													7	48					0	0	0	0	T	37172764	C	T	37172764	3	4	27	1	0	0	0	0	1	0	0	0	5103	710	25	4	1057	4	ELMO1	7	37172764	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	255091	37172764	121965899	336	5404											
UPP1	7378	broad.mit.edu	37	chr7	48141467	48141467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggatgaaagccttcatcaGgtgcgttggtgcagagctgg	8	9	15	9	2	2	2	2	1	0	1	2	3	2	3	2	4	4	3	2	4	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:48141467G>T	ENST00000331803.4	+	6	832	c.209G>T	c.(208-210)aGg>aTg	p.R70M	UPP1_ENST00000395564.4_Missense_Mutation_p.R70M|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.R70M|UPP1_ENST00000482015.1_3'UTR			Q16831	UPP1_HUMAN	uridine phosphorylase 1	70					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						GCCTTCATCAGGTGCGTTGGT	0.547													26	73					3.17567e-06	3.66948e-06	1	0	T	48141467	G	T	48141467	3	4	27	1	0	0	0	0	1	0	0	0	17108	1000	35	4	219	4	UPP1	7	48141467	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	10968703	48141467	110997196	337	5405											
VWC2	375567	broad.mit.edu	37	chr7	49842323	49842323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgtctccatgcgagaGgtgtcgctgtgaagccaacg	8	9	14	10	3	2	2	1	1	1	1	4	3	2	2	2	2	3	1	2	2	2	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:49842323G>T	ENST00000340652.3	+	3	1269	c.713G>T	c.(712-714)aGg>aTg	p.R238M		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	238	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CCATGCGAGAGGTGTCGCTGT	0.512													36	90					6.97489e-18	1.08789e-17	1	0	T	49842323	G	T	49842323	3	4	27	1	0	0	0	0	1	0	0	0	17339	1000	35	4	719	4	VWC2	7	49842323	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1700856	49842323	109296340	338	5406											
ZNF479	90827	broad.mit.edu	37	chr7	57188112	57188112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgtctagtaaggtttgagGaccagctaaaggctttgcca	11	12	11	7	0	1	1	0	1	1	0	1	2	1	2	2	3	2	4	2	3	5	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:57188112G>T	ENST00000331162.4	-	5	1280	c.1010C>A	c.(1009-1011)tCc>tAc	p.S337Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AAGGTTTGAGGACCAGCTAAA	0.448													5	16					8.12818e-05	8.96159e-05	1	0	T	57188112	G	T	57188112	3	4	27	1	0	0	0	0	1	0	0	0	18028	1174	41	2	568	2	ZNF479	7	57188112	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	7345789	57188112	101950551	339	5407											
TYW1	55253	broad.mit.edu	37	chr7	66479503	66479503	+	Frame_Shift_Del	DEL	G	G	-																															ctgaagggtatgagatatgcGgtatttggcctgggaaattc																								rs143691852	by1000genomes	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:66479503delG	ENST00000359626.5	+	5	689	c.525delG	c.(523-525)gcfs	p.A175fs		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	175	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TGAGATATGCGGTATTTGGCC	0.423													55	167	---	---	---	---					-	66479503	G	-	66479503	7	5	27	1	0	1	0	1	0	0	0	0	16914	1103	39	0	543	0	TYW1	7	66479503	Frame_Shift_Del	DEL	G	TCGA-BA-A6DA-01A-31D-A31L-08	9291391	66479503	92659160	340	5408											
MAGI2	9863	broad.mit.edu	37	chr7	77885797	77885797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagccacgacacaacaccaGgttgacactctgaccaatag	14	6	8	13	1	1	2	0	2	1	0	1	3	1	2	3	1	2	2	3	1	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:77885797G>T	ENST00000354212.4	-	10	1763	c.1510C>A	c.(1510-1512)Ctg>Atg	p.L504M	MAGI2_ENST00000522391.1_Missense_Mutation_p.L504M|MAGI2_ENST00000419488.1_Missense_Mutation_p.L504M|MAGI2_ENST00000536571.1_Missense_Mutation_p.L336M|MAGI2_ENST00000535697.1_Missense_Mutation_p.L341M	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	504	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CACAACACCAGGTTGACACTC	0.468													8	26					1.06961e-07	1.31578e-07	1	0	T	77885797	G	T	77885797	3	4	27	1	0	0	0	0	1	0	0	0	9260	991	35	4	2909	4	MAGI2	7	77885797	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	11406294	77885797	81252866	341	5409											
PCLO	27445	broad.mit.edu	37	chr7	82474617	82474617	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcttctttttgctcacTgagggggaccctggttgccc	3	13	12	13	1	2	1	1	1	1	0	2	2	2	2	3	3	3	3	3	3	0	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:82474617T>A	ENST00000423517.2	-	13	14353	c.14016A>T	c.(14014-14016)tcA>tcT	p.S4672S	PCLO_ENST00000333891.8_Silent_p.S4672S|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4560					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTTGCTCACTGAGGGGGACC	0.478													6	32					0	0	0	0	A	82474617	T	A	82474617	2	1	27	1	0	0	0	0	0	0	0	1	11654	1567	55	5		5	PCLO	7	82474617	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	4588820	82474617	76664046	342	5410											
PCLO	27445	broad.mit.edu	37	chr7	82579063	82579063	+	Frame_Shift_Del	DEL	G	G	-																															tgggggatttgggtggggaaGgagccagctgtactgtggaa																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:82579063delG	ENST00000423517.2	-	6	11178	c.10841delC	c.(10840-10842)ctfs	p.P3614fs	PCLO_ENST00000333891.8_Frame_Shift_Del_p.P3614fs|PCLO_ENST00000437081.1_Frame_Shift_Del_p.P334fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3545					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGTGGGGAAGGAGCCAGCTG	0.498													22	89	---	---	---	---					-	82579063	G	-	82579063	7	5	27	1	0	1	0	1	0	0	0	0	11654	1000	35	0	4684	0	PCLO	7	82579063	Frame_Shift_Del	DEL	G	TCGA-BA-A6DA-01A-31D-A31L-08	104446	82579063	76559600	343	5411											
SAMD9	54809	broad.mit.edu	37	chr7	92735238	92735238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagctggtccatgtgtgatgCccatatcaacaagatgttct	10	13	9	9	0	2	2	1	1	1	1	3	2	3	2	2	1	3	2	2	1	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:92735238C>A	ENST00000379958.2	-	3	442	c.173G>T	c.(172-174)gGc>gTc	p.G58V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	58	SAM.					cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGTGTGATGCCCATATCAAC	0.383													23	78					1.10923e-09	1.43197e-09	1	0	A	92735238	C	A	92735238	3	1	27	1	0	0	0	0	1	0	0	0	13911	739	26	4	4600	4	SAMD9	7	92735238	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	10156175	92735238	66403425	344	5412											
PPP1R9A	55607	broad.mit.edu	37	chr7	94540305	94540305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctctagcttcgatacctGgtgaagagatccagcagagc	10	9	10	12	1	1	3	0	1	1	2	4	5	2	3	3	1	4	2	3	1	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:94540305G>T	ENST00000289495.5	+	1	1096	c.880G>T	c.(880-882)Ggt>Tgt	p.G294C	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G294C|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G294C|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G294C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G294C|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G294C	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	294						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCGATACCTGGTGAAGAGAT	0.473										HNSCC(28;0.073)			6	31					8.12818e-05	8.96159e-05	1	0	T	94540305	G	T	94540305	3	4	27	1	0	0	0	0	1	0	0	0	12454	1348	47	4	882	4	PPP1R9A	7	94540305	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1805067	94540305	64598358	345	5413											
PPP1R9A	55607	broad.mit.edu	37	chr7	94540364	94540364	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctaatcaacagactccCgacagcattgacaaagatgg	16	7	7	11	1	2	3	1	1	1	2	3	4	3	3	1	1	2	1	1	1	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:94540364C>A	ENST00000289495.5	+	1	1155	c.939C>A	c.(937-939)ccC>ccA	p.P313P	PPP1R9A_ENST00000456331.2_Silent_p.P313P|PPP1R9A_ENST00000433881.1_Silent_p.P313P|PPP1R9A_ENST00000433360.1_Silent_p.P313P|PPP1R9A_ENST00000340694.4_Silent_p.P313P|PPP1R9A_ENST00000424654.1_Silent_p.P313P	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	313						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AACAGACTCCCGACAGCATTG	0.473										HNSCC(28;0.073)			10	47					1.76689e-08	2.20922e-08	1	0	A	94540364	C	A	94540364	2	1	27	1	0	0	0	0	0	0	0	1	12454	639	23	3		3	PPP1R9A	7	94540364	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	59	94540364	64598299	346	5414											
DLX5	1749	broad.mit.edu	37	chr7	96651661	96651661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccattcaccattctcacctCgggctcggtcacttctttct	5	14	6	16	2	5	0	3	0	3	0	8	0	5	0	3	2	0	1	3	2	0	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:96651661C>G	ENST00000222598.4	-	2	849	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	DLX5_ENST00000486603.2_Missense_Mutation_p.E126Q|DLX5_ENST00000493764.1_Intron	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	126					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					ATTCTCACCTCGGGCTCGGTC	0.448													26	74					0	0	0	0	G	96651661	C	G	96651661	3	3	27	1	0	0	0	0	1	0	0	0	4611	893	31	3	501	3	DLX5	7	96651661	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2111297	96651661	62487002	347	5415											
GNB2	2783	broad.mit.edu	37	chr7	100276124	100276124	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcatgtactcccatgacaAcatcatctgtggcatcacct	10	11	5	15	0	4	1	3	1	1	0	5	1	5	1	3	1	2	2	3	1	2	1	rs147810006		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:100276124A>T	ENST00000303210.4	+	9	1285	c.803A>T	c.(802-804)aAc>aTc	p.N268I	GNB2_ENST00000436220.1_Missense_Mutation_p.N224I|GNB2_ENST00000419828.1_Missense_Mutation_p.N168I|GNB2_ENST00000424361.1_Missense_Mutation_p.N224I|GNB2_ENST00000393924.1_Missense_Mutation_p.N268I|GNB2_ENST00000427895.1_Missense_Mutation_p.N168I|GNB2_ENST00000393926.1_Missense_Mutation_p.N268I	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	268					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCCCATGACAACATCATCTGT	0.607													18	50					0	0	0	0	T	100276124	A	T	100276124	3	4	27	1	0	0	0	0	1	0	0	0	6568	43	2	5	833	5	GNB2	7	100276124	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	3624463	100276124	58862539	348	5416											
PSMC2	5701	broad.mit.edu	37	chr7	103008201	103008201	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacgctcgttcaatgagTgttgaaagagatatcagatt	13	13	9	6	2	3	4	3	2	0	2	4	5	3	4	0	0	0	3	0	0	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:103008201T>A	ENST00000435765.1	+	12	1500	c.1089T>A	c.(1087-1089)agT>agA	p.S363R	SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.S226R|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.S363R	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	363					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GTTCAATGAGTGTTGAAAGAG	0.358													21	76					0	0	0	0	A	103008201	T	A	103008201	3	1	27	1	0	0	0	0	1	0	0	0	12765	1693	59	5	1131	5	PSMC2	7	103008201	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	2732077	103008201	56130462	349	5417											
PIK3CG	5294	broad.mit.edu	37	chr7	106508992	106508992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggccactggtggatgactGcacgggagtcaccggctacc	7	7	15	12	2	1	1	1	1	0	0	1	3	1	3	3	5	2	2	3	5	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:106508992G>T	ENST00000359195.3	+	2	1296	c.986G>T	c.(985-987)tGc>tTc	p.C329F	PIK3CG_ENST00000496166.1_Missense_Mutation_p.C329F|PIK3CG_ENST00000440650.2_Missense_Mutation_p.C329F	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	329					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGGATGACTGCACGGGAGTC	0.597													14	62					2.35188e-11	3.19409e-11	1	0	T	106508992	G	T	106508992	3	4	27	1	0	0	0	0	1	0	0	0	11988	1319	46	4	988	4	PIK3CG	7	106508992	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3500791	106508992	52629671	350	5418											
LAMB4	22798	broad.mit.edu	37	chr7	107688452	107688452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagagggtcagggagccGtgacagccgggacccctaca	9	5	16	11	2	1	2	1	2	0	1	1	5	1	4	4	3	3	1	4	3	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:107688452G>T	ENST00000388781.3	-	28	4310	c.4227C>A	c.(4225-4227)caC>caA	p.H1409Q	LAMB4_ENST00000388780.3_Missense_Mutation_p.H1409Q|LAMB4_ENST00000205386.4_Missense_Mutation_p.H1409Q	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1409	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCAGGGAGCCGTGACAGCCGG	0.562													26	72					3.28513e-13	4.66243e-13	1	0	T	107688452	G	T	107688452	3	4	27	1	0	0	0	0	1	0	0	0	8666	1136	40	3	1086	3	LAMB4	7	107688452	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1179460	107688452	51450211	351	5419											
FEZF1	389549	broad.mit.edu	37	chr7	121942248	121942248	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgaggtcaaagttccTgcagaaacccttgccgcacg	9	10	9	13	2	2	2	1	1	1	1	3	2	3	2	3	1	3	3	3	1	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:121942248T>G	ENST00000442488.2	-	4	1298	c.1231A>C	c.(1231-1233)Agg>Cgg	p.R411R	FEZF1_ENST00000331178.4_Silent_p.R407R|FEZF1_ENST00000427185.2_Silent_p.R361R	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	411					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TCAAAGTTCCTGCAGAAACCC	0.607													29	94					0	0	0	0	G	121942248	T	G	121942248	2	3	27	1	0	0	0	0	0	0	0	1	5870	1579	55	5		5	FEZF1	7	121942248	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	14253796	121942248	37196415	352	5420											
FEZF1	389549	broad.mit.edu	37	chr7	121944099	121944099	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcagcgcgtcgcgggcCaggtcgcccttgagactcag	6	5	16	14	6	1	1	1	1	0	1	3	2	1	1	2	3	2	1	2	3	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:121944099C>G	ENST00000442488.2	-	1	460	c.393G>C	c.(391-393)ctG>ctC	p.L131L	FEZF1_ENST00000331178.4_Silent_p.L131L|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Silent_p.L131L	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	131					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CGTCGCGGGCCAGGTCGCCCT	0.682													4	11					0	0	0	0	G	121944099	C	G	121944099	2	3	27	1	0	0	0	0	0	0	0	1	5870	581	21	4		4	FEZF1	7	121944099	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1851	121944099	37194564	353	5421											
GRM8	2918	broad.mit.edu	37	chr7	126173228	126173228	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacacttgagcactcccctGgccttctctggatctagtgt	6	13	8	14	0	3	1	1	1	2	0	5	2	4	2	3	2	1	1	3	2	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:126173228G>T	ENST00000339582.2	-	9	3016	c.2208C>A	c.(2206-2208)gcC>gcA	p.A736A	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.A736A|GRM8_ENST00000358373.3_Silent_p.A736A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	736					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCACTCCCCTGGCCTTCTCTG	0.468										HNSCC(24;0.065)			7	24					8.12818e-05	8.96159e-05	1	0	T	126173228	G	T	126173228	2	4	27	1	0	0	0	0	0	0	0	1	6853	1335	47	4		4	GRM8	7	126173228	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4229129	126173228	32965435	354	5422											
ZNF800	168850	broad.mit.edu	37	chr7	127013508	127013508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggtaagtctttttggCaaatgcctttccacatttat	10	17	6	8	0	2	0	1	0	1	0	3	0	3	0	2	2	1	2	2	2	4	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:127013508C>T	ENST00000393313.1	-	5	2473	c.1882G>A	c.(1882-1884)Gcc>Acc	p.A628T	ZNF800_ENST00000265827.3_Missense_Mutation_p.A628T|ZNF800_ENST00000393312.1_Missense_Mutation_p.A628T|ZNF800_ENST00000485577.1_5'UTR			Q2TB10	ZN800_HUMAN	zinc finger protein 800	628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GTCTTTTTGGCAAATGCCTTT	0.363													5	32					0	0	0	0	T	127013508	C	T	127013508	3	4	27	1	0	0	0	0	1	0	0	0	18262	710	25	4	120	4	ZNF800	7	127013508	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	840280	127013508	32125155	355	5423											
PLXNA4	91584	broad.mit.edu	37	chr7	131853236	131853236	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctacgctgggactcaagCgtgcggatgaaggacagcag	12	5	15	9	3	1	1	1	1	0	0	1	4	1	4	0	3	5	3	0	3	4	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:131853236C>A	ENST00000359827.3	-	22	5075	c.4113G>T	c.(4111-4113)acG>acT	p.T1371T	PLXNA4_ENST00000321063.4_Silent_p.T1371T			Q9HCM2	PLXA4_HUMAN	plexin A4	1371						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGACTCAAGCGTGCGGATGA	0.602													19	51					2.94398e-08	3.65598e-08	1	0	A	131853236	C	A	131853236	2	1	27	1	0	0	0	0	0	0	0	1	12194	755	27	3		3	PLXNA4	7	131853236	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	4839728	131853236	27285427	356	5424											
DGKI	9162	broad.mit.edu	37	chr7	137271855	137271855	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttacccctccccagttGagagttcgagccaggtcatt	7	12	9	13	1	2	1	1	1	1	1	4	3	3	1	5	1	2	3	5	1	1	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:137271855G>T	ENST00000453654.1	-	13	1052	c.513C>A	c.(511-513)ctC>ctA	p.L171L	DGKI_ENST00000288490.5_Silent_p.L471L|DGKI_ENST00000446122.1_Silent_p.L471L|DGKI_ENST00000424189.2_Silent_p.L471L			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	471					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTCCCCAGTTGAGAGTTCGAG	0.557													14	70					3.52763e-06	4.0659e-06	1	0	T	137271855	G	T	137271855	2	4	27	1	0	0	0	0	0	0	0	1	4508	1277	45	2		2	DGKI	7	137271855	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5418619	137271855	21866808	357	5425											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138764702	138764702	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccgttctctaaaaaccTctggcttgtcccggcctgac	7	11	8	15	2	2	1	0	1	2	0	4	1	3	1	4	2	2	2	4	2	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:138764702T>G	ENST00000242351.5	-	4	1301	c.985A>C	c.(985-987)Agg>Cgg	p.R329R	ZC3HAV1_ENST00000471652.1_Silent_p.R329R|ZC3HAV1_ENST00000464606.1_Silent_p.R329R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	329					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TCTAAAAACCTCTGGCTTGTC	0.547													19	58					0	0	0	0	G	138764702	T	G	138764702	2	3	27	1	0	0	0	0	0	0	0	1	17670	1550	54	5		5	ZC3HAV1	7	138764702	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1492847	138764702	20373961	358	5426											
SSPO	23145	broad.mit.edu	37	chr7	149508765	149508765	+	RNA	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacagctcctgtgtctcCgggctcatcgccaactgcag	6	8	9	18	2	2	0	1	0	1	0	5	0	3	0	5	1	3	3	5	1	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:149508765C>A	ENST00000378016.2	+	0	9504							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGTGTCTCCGGGCTCATCG	0.627													4	133					0.00909568	0.00940436	1	0	A	149508765	C	A	149508765	1	1	27	0	1	0	0	0	0	0	0	0	15279	639	23	3		3	SSPO	7	149508765	RNA	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	10744063	149508765	9629898	359	5427											
ATP6V0E2	155066	broad.mit.edu	37	chr7	149576766	149576766	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggactcagcccatcctgAggaggacacgtgtcctcatg	9	7	11	14	1	2	1	2	1	0	0	4	4	4	4	4	3	1	0	4	3	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:149576766A>T	ENST00000421974.2	+	3	1593	c.642A>T	c.(640-642)tgA>tgT	p.*214C	ATP6V0E2_ENST00000606024.1_Nonstop_Mutation_p.*165C|ATP6V0E2_ENST00000425642.2_3'UTR|ATP6V0E2_ENST00000456496.2_3'UTR|ATP6V0E2_ENST00000479613.1_Nonstop_Mutation_p.*188C	NM_001100592.1	NP_001094062.1	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	0					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GCCCATCCTGAGGAGGACACG	0.637													3	9					0	0	0	0	T	149576766	A	T	149576766	4	4	27	1	0	0	0	0	0	0	0	0	1180	317	11	5	750	5	ATP6V0E2	7	149576766	Nonstop_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	68001	149576766	9561897	360	5428											
GIMAP8	155038	broad.mit.edu	37	chr7	150164341	150164341	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcacccaggtgttggagctCcttcgcaaggttgagtcttt	7	13	11	10	1	2	1	1	1	1	0	4	2	3	2	2	3	1	4	2	3	1	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:150164341C>T	ENST00000307271.3	+	2	1129	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	185						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGTTGGAGCTCCTTCGCAAGG	0.433													18	81					0	0	0	0	T	150164341	C	T	150164341	2	4	27	1	0	0	0	0	0	0	0	1	6436	842	30	2		2	GIMAP8	7	150164341	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	587575	150164341	8974322	361	5429											
HTR5A	3361	broad.mit.edu	37	chr7	154863245	154863245	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggcgccttctacctgccGctctgtgtggtgctcttcgt	2	14	12	13	3	3	0	0	0	3	0	4	0	3	0	3	2	3	3	3	2	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:154863245G>T	ENST00000287907.2	+	1	1212	c.636G>T	c.(634-636)ccG>ccT	p.P212P	AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	212						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TCTACCTGCCGCTCTGTGTGG	0.597													8	36					0.000157383	0.000171862	1	0	T	154863245	G	T	154863245	2	4	27	1	0	0	0	0	0	0	0	1	7503	1074	38	3		3	HTR5A	7	154863245	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4698904	154863245	4275418	362	5430											
RBM33	155435	broad.mit.edu	37	chr7	155503974	155503974	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagccgcagccgctgcaGccgctgcttccggtgcagca	5	7	12	17	4	0	0	0	0	0	0	2	0	2	0	5	1	7	7	5	1	0	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:155503974G>A	ENST00000401878.3	+	8	1224	c.1026G>A	c.(1024-1026)caG>caA	p.Q342Q	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	342	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGCCGCTGCAGCCGCTGCTTC	0.667													21	53					0	0	0	0	A	155503974	G	A	155503974	2	1	27	1	0	0	0	0	0	0	0	1	13212	962	34	4		4	RBM33	7	155503974	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	640729	155503974	3634689	363	5431											
MYOM2	9172	broad.mit.edu	37	chr8	2054184	2054184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaaaatcgaaaccgtggggGatcagtaagtcaggcctgga	13	8	13	7	2	2	0	2	0	0	0	3	3	2	2	2	4	1	1	2	4	4	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:2054184G>T	ENST00000262113.4	+	22	3028	c.2887G>T	c.(2887-2889)Gat>Tat	p.D963Y	MYOM2_ENST00000523438.1_Missense_Mutation_p.D388Y	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	963	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AACCGTGGGGGATCAGTAAGT	0.448													17	45					6.49762e-13	9.12262e-13	1	0	T	2054184	G	T	2054184	3	4	27	1	0	0	0	0	1	0	0	0	10162	1174	41	2	2969	2	MYOM2	8	2054184	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08		2054184	144309838	364	5432											
TNFRSF10A	8797	broad.mit.edu	37	chr8	23049474	23049474	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctgcctcatgagctggtcCcaggagtcaaagggcacgat	10	7	13	11	1	2	1	2	1	0	0	3	3	3	2	2	3	3	3	2	3	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:23049474C>T	ENST00000221132.3	-	10	1204	c.1140G>A	c.(1138-1140)tgG>tgA	p.W380*		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	380	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TGAGCTGGTCCCAGGAGTCAA	0.522													22	36					0	0	0	0	T	23049474	C	T	23049474	4	4	27	1	0	0	0	0	0	1	0	0	16374	624	22	4	270	4	TNFRSF10A	8	23049474	Nonsense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	20995290	23049474	123314548	365	5433											
ANK1	286	broad.mit.edu	37	chr8	41525935	41525935	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggaccttctcgtactcCtgagatccaccgggctctag	8	9	9	15	2	2	1	0	1	2	1	5	3	4	2	5	2	1	2	5	2	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:41525935C>T	ENST00000396942.1	-	39	5327	c.5244G>A	c.(5242-5244)caG>caA	p.Q1748Q	ANK1_ENST00000347528.4_Silent_p.Q1748Q|ANK1_ENST00000379758.2_Silent_p.Q1748Q|ANK1_ENST00000265709.8_Silent_p.Q1789Q|ANK1_ENST00000352337.4_Silent_p.Q1748Q|ANK1_ENST00000396945.1_Silent_p.Q1748Q|ANK1_ENST00000289734.7_Silent_p.Q1748Q			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1748	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTCGTACTCCTGAGATCCAC	0.592													27	36					0	0	0	0	T	41525935	C	T	41525935	2	4	27	1	0	0	0	0	0	0	0	1	620	680	24	4		4	ANK1	8	41525935	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	18476461	41525935	104838087	366	5434											
MRPL15	29088	broad.mit.edu	37	chr8	55049212	55049212	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatcccaaaatacgggtttAacgaaggacataggtaaggt	16	8	11	6	2	0	0	0	0	0	0	1	3	1	1	1	4	2	2	1	4	8	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:55049212A>T	ENST00000260102.4	+	2	324	c.250A>T	c.(250-252)Aac>Tac	p.N84Y		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	84					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			ATACGGGTTTAACGAAGGACA	0.438													33	55					0	0	0	0	T	55049212	A	T	55049212	3	4	27	1	0	0	0	0	1	0	0	0	9850	362	13	5	256	5	MRPL15	8	55049212	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	13523277	55049212	91314810	367	5435											
CHD7	55636	broad.mit.edu	37	chr8	61748739	61748739	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggcaagctagtgctgattGacaagctgctgccaaaactg	11	9	11	10	0	0	2	0	2	0	0	0	2	0	2	1	1	6	5	1	1	5	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:61748739G>C	ENST00000423902.2	+	16	4365	c.3886G>C	c.(3886-3888)Gac>Cac	p.D1296H	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1296	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGTGCTGATTGACAAGCTGCT	0.473													16	24					0	0	0	0	C	61748739	G	C	61748739	3	2	27	1	0	0	0	0	1	0	0	0	3359	1290	45	2	3944	2	CHD7	8	61748739	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	6699527	61748739	84615283	368	5436											
VCPIP1	80124	broad.mit.edu	37	chr8	67546742	67546742	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctaattaaatcaagaGtgatccattggctcagttgt	12	13	8	8	0	3	2	2	1	1	1	4	2	4	2	2	1	1	2	2	1	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:67546742G>A	ENST00000310421.4	-	3	3921	c.3663C>T	c.(3661-3663)caC>caT	p.H1221H		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1221					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TAAATCAAGAGTGATCCATTG	0.388													37	61					0	0	0	0	A	67546742	G	A	67546742	2	1	27	1	0	0	0	0	0	0	0	1	17237	1020	36	4		4	VCPIP1	8	67546742	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5798003	67546742	78817280	369	5437											
XKR9	389668	broad.mit.edu	37	chr8	71593478	71593478	+	Missense_Mutation	SNP	G	G	T																															tcagtgttttagttattcttGgttcaaggctgatttaaaga																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:71593478G>T	ENST00000408926.3	+	3	719	c.185G>T	c.(184-186)tGg>tTg	p.W62L	XKR9_ENST00000520030.1_Missense_Mutation_p.W62L|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	62						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGTTATTCTTGGTTCAAGGCT	0.378													35	230					3.90053e-15	5.81579e-15	1	0	T	71593478	G	T	71593478	3	4	27	1	0	0	0	0	1	0	0	0	17534	1357	47	4	187	4	XKR9	8	71593478	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4046736	71593478	74770544	370	5438	53	2									
XKR9	389668	broad.mit.edu	37	chr8	71593479	71593479	+	Missense_Mutation	SNP	G	G	T																															cagtgttttagttattcttgGttcaaggctgatttaaagaa																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:71593479G>T	ENST00000408926.3	+	3	720	c.186G>T	c.(184-186)tgG>tgT	p.W62C	XKR9_ENST00000520030.1_Missense_Mutation_p.W62C|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	62						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GTTATTCTTGGTTCAAGGCTG	0.378													36	226					3.11337e-16	4.74271e-16	1	0	T	71593479	G	T	71593479	3	4	27	1	0	0	0	0	1	0	0	0	17534	1270	44	4	188	4	XKR9	8	71593479	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1	71593479	74770543	371	5439	53	2									
TRPA1	8989	broad.mit.edu	37	chr8	72971646	72971646	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgaaattaaatagtctgcTagctcatggtgatcaaacaa	16	11	7	7	0	3	2	2	2	1	0	3	2	3	2	0	1	3	2	0	1	7	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:72971646T>C	ENST00000262209.4	-	8	1179	c.972A>G	c.(970-972)ctA>ctG	p.L324L		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	324						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATAGTCTGCTAGCTCATGGT	0.229													14	16					0	0	0	0	C	72971646	T	C	72971646	2	2	27	1	0	0	0	0	0	0	0	1	16672	1509	53	5		5	TRPA1	8	72971646	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1378167	72971646	73392376	372	5440											
RIMS2	9699	broad.mit.edu	37	chr8	104948796	104948796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgataaaaacaagagaaGaactaaaacagtaaagaaaa	26	5	7	3	0	0	4	0	1	0	3	0	5	0	4	0	0	3	1	0	0	13	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:104948796G>T	ENST00000507740.1	+	10	2005	c.1769G>T	c.(1768-1770)aGa>aTa	p.R590I	RIMS2_ENST00000262231.10_Missense_Mutation_p.R637I|RIMS2_ENST00000436393.2_Missense_Mutation_p.R576I|RIMS2_ENST00000406091.3_Missense_Mutation_p.R798I	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	860					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AACAAGAGAAGAACTAAAACA	0.299										HNSCC(12;0.0054)			9	54					0.000274275	0.000298793	1	0	T	104948796	G	T	104948796	3	4	27	1	0	0	0	0	1	0	0	0	13453	942	33	2	2569	2	RIMS2	8	104948796	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	31977150	104948796	41415226	373	5441											
CSMD3	114788	broad.mit.edu	37	chr8	113237019	113237019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttataccattgtgcaaaccGtgttcaagttgggatcaaat	12	13	9	7	1	2	0	2	0	0	0	2	1	2	1	2	1	3	4	2	1	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:113237019G>A	ENST00000297405.5	-	71	11349	c.11105C>T	c.(11104-11106)aCg>aTg	p.T3702M	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3632M|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3662M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3533M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3702						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGCAAACCGTGTTCAAGTT	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			57	130					0	0	0	0	A	113237019	G	A	113237019	3	1	27	1	0	0	0	0	1	0	0	0	3978	1145	40	1	22	1	CSMD3	8	113237019	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	8288223	113237019	33127003	374	5442											
CSMD3	114788	broad.mit.edu	37	chr8	113569164	113569164	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaatgccaggatcttcAcagtgtgagagttcaaaacc	12	10	11	8	0	3	1	2	1	1	1	3	4	3	3	2	2	2	1	2	2	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:113569164A>G	ENST00000297405.5	-	25	4306	c.4062T>C	c.(4060-4062)tgT>tgC	p.C1354C	CSMD3_ENST00000352409.3_Silent_p.C1354C|CSMD3_ENST00000343508.3_Silent_p.C1314C|CSMD3_ENST00000455883.2_Silent_p.C1250C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1354	Sushi 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGATCTTCACAGTGTGAGA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	34					0	0	0	0	G	113569164	A	G	113569164	2	3	27	1	0	0	0	0	0	0	0	1	3978	157	6	5		5	CSMD3	8	113569164	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	332145	113569164	32794858	375	5443											
CSMD3	114788	broad.mit.edu	37	chr8	113812446	113812446	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcgtccgtttgaaggtgCagccacatttggctactcat	7	14	9	11	2	1	1	1	1	0	0	3	1	2	1	2	2	3	3	2	2	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:113812446C>A	ENST00000297405.5	-	13	2161	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L	CSMD3_ENST00000352409.3_Silent_p.L639L|CSMD3_ENST00000343508.3_Silent_p.L599L|CSMD3_ENST00000455883.2_Silent_p.L535L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	639	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGAAGGTGCAGCCACATTT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			32	61					6.84511e-11	9.10689e-11	1	0	A	113812446	C	A	113812446	2	1	27	1	0	0	0	0	0	0	0	1	3978	697	25	4		4	CSMD3	8	113812446	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	243282	113812446	32551576	376	5444											
CSMD3	114788	broad.mit.edu	37	chr8	113966957	113966957	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttccctggaaacaatttaAatcctctagatttaaaatct	14	15	3	9	0	2	1	0	0	2	1	4	2	4	2	2	1	1	0	2	1	7	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:113966957A>T	ENST00000297405.5	-	8	1620	c.1376T>A	c.(1375-1377)tTt>tAt	p.F459Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.F459Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.F419Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.F355Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	459						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACAATTTAAATCCTCTAGA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	37					0	0	0	0	T	113966957	A	T	113966957	3	4	27	1	0	0	0	0	1	0	0	0	3978	14	1	5	10003	5	CSMD3	8	113966957	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	154511	113966957	32397065	377	5445											
TMEM65	157378	broad.mit.edu	37	chr8	125332407	125332407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgacaggcctaacctggaagCcaatgcttcaacgtagcctg	11	8	10	12	1	1	1	1	1	0	0	1	2	1	2	4	2	5	2	4	2	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:125332407C>G	ENST00000297632.6	-	6	1075	c.541G>C	c.(541-543)Gct>Cct	p.A181P		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	181						integral to membrane				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AACCTGGAAGCCAATGCTTCA	0.368													39	71					0	0	0	0	G	125332407	C	G	125332407	3	3	27	1	0	0	0	0	1	0	0	0	16288	739	26	4	189	4	TMEM65	8	125332407	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	11365450	125332407	21031615	378	5446											
TG	7038	broad.mit.edu	37	chr8	133909916	133909916	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaagcttctatcagagacgCcgcttttccccggacgactc	8	11	8	14	4	2	1	1	0	1	1	4	4	3	2	3	1	1	2	3	1	2	5	rs143929015		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:133909916C>G	ENST00000220616.4	+	12	3064	c.3024C>G	c.(3022-3024)cgC>cgG	p.R1008R	TG_ENST00000377869.1_Silent_p.R1008R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1008	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATCAGAGACGCCGCTTTTCCC	0.567													48	266					0	0	0	0	G	133909916	C	G	133909916	2	3	27	1	0	0	0	0	0	0	0	1	15907	726	26	4		4	TG	8	133909916	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	8577509	133909916	12454106	379	5447											
TG	7038	broad.mit.edu	37	chr8	134146974	134146974	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agaggaggagttgacggctgGatctgggctaagagaagatc	12	7	17	5	1	1	4	0	1	1	3	2	8	1	7	0	5	0	3	0	5	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:134146974G>C	ENST00000220616.4	+	48	8283	c.8243G>C	c.(8242-8244)gGa>gCa	p.G2748A	TG_ENST00000519543.1_Missense_Mutation_p.G881A|TG_ENST00000542445.1_Missense_Mutation_p.G1118A|TG_ENST00000377869.1_Missense_Mutation_p.G2691A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2748					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTGACGGCTGGATCTGGGCTA	0.562													14	75					0	0	0	0	C	134146974	G	C	134146974	3	2	27	1	0	0	0	0	1	0	0	0	15907	1174	41	2	8433	2	TG	8	134146974	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	237058	134146974	12217048	380	5448											
ZFAT	57623	broad.mit.edu	37	chr8	135622730	135622730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctggaattgcttcgtgtGcagttaaaaccacacttatg	11	12	8	10	1	0	0	0	0	0	0	1	1	0	1	2	1	3	3	2	1	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:135622730G>A	ENST00000520727.1	-	5	880	c.581C>T	c.(580-582)gCa>gTa	p.A194V	ZFAT_ENST00000520214.1_Missense_Mutation_p.A194V|ZFAT_ENST00000429442.2_Missense_Mutation_p.A194V|ZFAT_ENST00000377838.3_Missense_Mutation_p.A206V|ZFAT_ENST00000520356.1_Missense_Mutation_p.A194V|ZFAT_ENST00000523399.1_Intron	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGCTTCGTGTGCAGTTAAAAC	0.512													8	60					0	0	0	0	A	135622730	G	A	135622730	3	1	27	1	0	0	0	0	1	0	0	0	17727	1319	46	4	3166	4	ZFAT	8	135622730	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1475756	135622730	10741292	381	5449											
ZFAT	57623	broad.mit.edu	37	chr8	135649725	135649725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcttctccttcctcctcacCcaaattcagcacgataatgc	9	12	4	16	1	3	0	2	0	1	0	6	1	5	0	4	0	3	2	4	0	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:135649725C>T	ENST00000520727.1	-	4	690	c.391G>A	c.(391-393)Ggt>Agt	p.G131S	ZFAT_ENST00000520214.1_Missense_Mutation_p.G131S|ZFAT_ENST00000429442.2_Missense_Mutation_p.G131S|ZFAT_ENST00000377838.3_Missense_Mutation_p.G143S|ZFAT_ENST00000520356.1_Missense_Mutation_p.G131S|ZFAT_ENST00000523399.1_Missense_Mutation_p.G143S	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCCTCCTCACCCAAATTCAGC	0.502													30	98					0	0	0	0	T	135649725	C	T	135649725	3	4	27	1	0	0	0	0	1	0	0	0	17727	623	22	4	3360	4	ZFAT	8	135649725	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	26995	135649725	10714297	382	5450											
COL22A1	169044	broad.mit.edu	37	chr8	139620205	139620205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaagggccaggctctcCtggagatcccggtgatccat	7	9	12	13	1	1	3	0	2	1	1	5	4	4	3	5	4	0	1	5	4	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:139620205C>T	ENST00000303045.6	-	57	4452	c.4006G>A	c.(4006-4008)Gga>Aga	p.G1336R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1316R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1336	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGCTCTCCTGGAGATCCC	0.517										HNSCC(7;0.00092)			6	66					0	0	0	0	T	139620205	C	T	139620205	3	4	27	1	0	0	0	0	1	0	0	0	3711	690	24	4	910	4	COL22A1	8	139620205	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3970480	139620205	6743817	383	5451											
ZNF623	9831	broad.mit.edu	37	chr8	144733583	144733583	+	Missense_Mutation	SNP	C	C	A																															ggttcaccaagagggactctCcttgagtaaggcccccatac																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:144733583C>A	ENST00000501748.2	+	1	1630	c.1541C>A	c.(1540-1542)tCc>tAc	p.S514Y	ZNF623_ENST00000458270.2_Missense_Mutation_p.S474Y|ZNF623_ENST00000526926.1_Missense_Mutation_p.S474Y	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGGGACTCTCCTTGAGTAAG	0.413													27	69					8.24728e-16	1.24802e-15	1	0	A	144733583	C	A	144733583	3	1	27	1	0	0	0	0	1	0	0	0	18142	855	30	2	1543	2	ZNF623	8	144733583	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	5113378	144733583	1630439	384	5452	54	2									
ZNF623	9831	broad.mit.edu	37	chr8	144733584	144733584	+	Silent	SNP	C	C	T																															gttcaccaagagggactctcCttgagtaaggcccccataca																								rs140630158	by1000genomes	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:144733584C>T	ENST00000501748.2	+	1	1631	c.1542C>T	c.(1540-1542)tcC>tcT	p.S514S	ZNF623_ENST00000458270.2_Silent_p.S474S|ZNF623_ENST00000526926.1_Silent_p.S474S	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGGACTCTCCTTGAGTAAGG	0.408													28	69					0	0	0	0	T	144733584	C	T	144733584	2	4	27	1	0	0	0	0	0	0	0	1	18142	668	24	4		4	ZNF623	8	144733584	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1	144733584	1630438	385	5453	54	2									
CPSF1	29894	broad.mit.edu	37	chr8	145620155	145620155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtcccggcggccacgtagCctttgaggcccgacacggtc	6	6	14	15	5	0	1	0	1	0	0	2	2	1	1	4	5	1	1	4	5	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:145620155C>T	ENST00000349769.3	-	30	3450	c.3356G>A	c.(3355-3357)gGc>gAc	p.G1119D		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1119					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCCACGTAGCCTTTGAGGCC	0.682													19	101					0	0	0	0	T	145620155	C	T	145620155	3	4	27	1	0	0	0	0	1	0	0	0	3854	739	26	4	1011	4	CPSF1	8	145620155	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	886571	145620155	743867	386	5454											
SLC39A4	55630	broad.mit.edu	37	chr8	145639732	145639732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggatgtagtgggtgacccCcctgcagccagtgcaggtca	8	7	14	12	0	1	1	1	1	0	0	1	2	1	2	4	3	3	3	4	3	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:145639732C>A	ENST00000276833.5	-	5	1291	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	SLC39A4_ENST00000301305.3_Missense_Mutation_p.G355W	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	355			G -> D (in AEZ).			cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TGGGTGACCCCCCTGCAGCCA	0.652													9	25					1.12685e-05	1.27784e-05	1	0	A	145639732	C	A	145639732	3	1	27	1	0	0	0	0	1	0	0	0	14708	623	22	4	908	4	SLC39A4	8	145639732	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	19577	145639732	724290	387	5455											
TYRP1	7306	broad.mit.edu	37	chr9	12694237	12694237	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagccctcagtatcccCatgatggcagagatgatcgg	10	7	10	14	1	1	3	1	2	0	1	3	4	2	3	4	2	1	2	4	2	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:12694237C>A	ENST00000381137.2	+	0	419				TYRP1_ENST00000388918.5_Missense_Mutation_p.H81N			P17643	TYRP1_HUMAN	tyrosinase-related protein 1						melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TCAGTATCCCCATGATGGCAG	0.592									Oculocutaneous Albinism				10	15					0.000442599	0.000478175	1	0	A	12694237	C	A	12694237	1	1	27	1	0	0	0	0	0	0	0	0	16912	594	21	4		4	TYRP1	9	12694237	Translation_Start_Site	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08		12694237	128519194	388	5456											
CDKN2A	1029	broad.mit.edu	37	chr9	21971063	21971063	+	Frame_Shift_Del	DEL	G	G	-																															gtccagccgcgccccggcccGgtgcagcaccaccagcgtgt																								rs34886500		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:21971063delG	ENST00000579755.1	-	2	630	c.338delC	c.(337-339)cgfs	p.P113fs	CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.P113fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.P154fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R99fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.R99fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.R99fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.R48fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.R99fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	129					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.R99W(2)|p.0(1)|p.T93_D105del(1)|p.A68fs*3(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCCCGGCCCGGTGCAGCACC	0.751		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			37	36	---	---	---	---					-	21971063	G	-	21971063	7	5	27	1	0	1	0	1	0	0	0	0	3190	1116	39	0	183	0	CDKN2A	9	21971063	Frame_Shift_Del	DEL	G	TCGA-BA-A6DA-01A-31D-A31L-08	9276826	21971063	119242368	389	5457											
PGM5	5239	broad.mit.edu	37	chr9	71114261	71114261	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagagggatcccagcggccAtgaccaggagccacaggtac	11	3	14	13	2	0	2	0	1	0	1	1	5	1	4	4	4	3	1	4	4	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:71114261A>T	ENST00000396396.1	+	10	1827	c.1598A>T	c.(1597-1599)cAt>cTt	p.H533L		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	533					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCCAGCGGCCATGACCAGGAG	0.587													20	33					0	0	0	0	T	71114261	A	T	71114261	3	4	27	1	0	0	0	0	1	0	0	0	11873	217	8	5	1636	5	PGM5	9	71114261	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	49143198	71114261	70099170	390	5458											
FAM122A	116224	broad.mit.edu	37	chr9	71395143	71395143	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtacgggcgggagcccggcGgagggcggtggcagcggcgg	4	2	25	10	7	0	0	0	0	0	0	0	2	0	2	1	10	3	2	1	10	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:71395143G>C	ENST00000394264.3	+	1	180	c.63G>C	c.(61-63)gcG>gcC	p.A21A	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	21										endometrium(1)|lung(2)	3						GGAGCCCGGCGGAGGGCGGTG	0.721													14	19					0	0	0	0	C	71395143	G	C	71395143	2	2	27	1	0	0	0	0	0	0	0	1	5460	1103	39	3		3	FAM122A	9	71395143	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	280882	71395143	69818288	391	5459											
TRPM6	140803	broad.mit.edu	37	chr9	77377561	77377561	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggggaccagaagaaactgGccatactttgagtgtgcttg	11	9	14	7	0	0	3	0	1	0	2	0	5	0	4	2	3	3	1	2	3	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:77377561G>T	ENST00000451710.3	-	26	4263	c.4026C>A	c.(4024-4026)ggC>ggA	p.G1342G	TRPM6_ENST00000360774.1_Silent_p.G1342G|TRPM6_ENST00000449912.2_Silent_p.G1337G|TRPM6_ENST00000376864.4_Silent_p.G1342G|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.G1337G			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1342					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						GAAGAAACTGGCCATACTTTG	0.468													108	129					8.05857e-52	1.36147e-51	1	0	T	77377561	G	T	77377561	2	4	27	1	0	0	0	0	0	0	0	1	16685	1190	42	4		4	TRPM6	9	77377561	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5982418	77377561	63835870	392	5460											
PCSK5	5125	broad.mit.edu	37	chr9	78794514	78794514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctaatgtcttttggaaaggtCcctgcgaccctgagtgcagt	8	12	11	10	1	1	1	0	1	1	0	2	3	2	2	2	2	2	1	2	2	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:78794514C>T	ENST00000545128.1	+	15	2441	c.1903C>T	c.(1903-1905)Ccc>Tcc	p.P635S	PCSK5_ENST00000376752.4_Missense_Mutation_p.P635S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	635					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTGGAAAGGTCCCTGCGACCC	0.408													8	49					0	0	0	0	T	78794514	C	T	78794514	3	4	27	1	0	0	0	0	1	0	0	0	11674	855	30	2	1961	2	PCSK5	9	78794514	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1416953	78794514	62418917	393	5461											
PCSK5	5125	broad.mit.edu	37	chr9	78973610	78973610	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaaaaactggccgacccCaacaagtcttactcctccta	13	9	5	14	1	1	1	0	1	1	0	3	2	3	1	5	1	3	0	5	1	7	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:78973610C>G	ENST00000545128.1	+	37	5893	c.5355C>G	c.(5353-5355)ccC>ccG	p.P1785P		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	602					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGGCCGACCCCAACAAGTCTT	0.532													14	110					0	0	0	0	G	78973610	C	G	78973610	2	3	27	1	0	0	0	0	0	0	0	1	11674	609	21	4		4	PCSK5	9	78973610	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	179096	78973610	62239821	394	5462											
PRUNE2	158471	broad.mit.edu	37	chr9	79323319	79323319	+	Frame_Shift_Del	DEL	C	C	-																															tgcatcactttgcagggtttCcctctctgtgtcctgcttgt																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:79323319delC	ENST00000428286.1	-	8	3994	c.2794delG	c.(2794-2796)aafs	p.E932fs	PRUNE2_ENST00000376718.3_Frame_Shift_Del_p.E1291fs			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1291					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGCAGGGTTTCCCTCTCTGTG	0.493													30	39	---	---	---	---					-	79323319	C	-	79323319	7	5	27	1	0	1	0	1	0	0	0	0	12720	864	30	0	5443	0	PRUNE2	9	79323319	Frame_Shift_Del	DEL	C	TCGA-BA-A6DA-01A-31D-A31L-08	349709	79323319	61890112	395	5463											
GRIN3A	116443	broad.mit.edu	37	chr9	104375799	104375799	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagttgggtgggaggccAatgccgtatcctagaagaaa	12	7	16	6	1	0	3	0	0	0	3	1	5	1	4	3	4	1	2	3	4	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:104375799A>T	ENST00000361820.3	-	6	3225	c.2625T>A	c.(2623-2625)atT>atA	p.I875I	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	875					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTGGGAGGCCAATGCCGTATC	0.438													7	32					0	0	0	0	T	104375799	A	T	104375799	2	4	27	1	0	0	0	0	0	0	0	1	6833	126	5	5		5	GRIN3A	9	104375799	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	25052480	104375799	36837632	396	5464											
OR13F1	138805	broad.mit.edu	37	chr9	107267257	107267257	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggtcgaagtaaagccttTtcaacgtgcacagcccacct	12	8	9	12	2	1	0	1	0	0	0	2	2	1	0	3	1	4	2	3	1	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:107267257T>C	ENST00000334726.2	+	1	803	c.714T>C	c.(712-714)ttT>ttC	p.F238F		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GTAAAGCCTTTTCAACGTGCA	0.478													11	131					0	0	0	0	C	107267257	T	C	107267257	2	2	27	1	0	0	0	0	0	0	0	1	11012	1838	64	5		5	OR13F1	9	107267257	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	2891458	107267257	33946174	397	5465											
C9orf152	401546	broad.mit.edu	37	chr9	112963681	112963681	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgcctcttccagggaCagtgagcttcttctctcctt	6	14	8	13	0	4	1	0	1	4	0	7	3	6	2	3	1	2	1	3	1	1	4	rs111567458	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:112963681C>G	ENST00000400613.4	-	2	876	c.267G>C	c.(265-267)ctG>ctC	p.L89L	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	89										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CTTCCAGGGACAGTGAGCTTC	0.567													22	34					0	0	0	0	G	112963681	C	G	112963681	2	3	27	1	0	0	0	0	0	0	0	1	2488	465	17	4		4	C9orf152	9	112963681	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	5696424	112963681	28249750	398	5466											
ORM2	5005	broad.mit.edu	37	chr9	117092820	117092820	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactttacccccaacaagaCagaggacacgatctttctca	13	10	5	13	1	2	2	1	0	2	2	3	4	2	3	2	1	3	0	2	1	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:117092820C>G	ENST00000431067.2	+	2	257	c.221C>G	c.(220-222)aCa>aGa	p.T74R	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1			orosomucoid 2											breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)				CCCAACAAGACAGAGGACACG	0.512													43	49					0	0	0	0	G	117092820	C	G	117092820	3	3	27	1	0	0	0	0	1	0	0	0	11339	478	17	4	227	4	ORM2	9	117092820	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	4129139	117092820	24120611	399	5467											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123210239	123210239	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagccagaattaacttttGgtgaagttgcttattacaag	12	15	8	6	0	1	2	1	1	0	1	1	2	1	2	1	1	4	2	1	1	6	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:123210239G>A	ENST00000349780.4	-	22	3138	c.2959C>T	c.(2959-2961)Caa>Taa	p.Q987*	CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q987*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q987*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q955*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	987	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|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						ATTAACTTTTGGTGAAGTTGC	0.507													79	81					0	0	0	0	A	123210239	G	A	123210239	4	1	27	1	0	0	0	0	0	1	0	0	3175	1357	47	4	2790	4	CDK5RAP2	9	123210239	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	6117419	123210239	18003192	400	5468											
MEGF9	1955	broad.mit.edu	37	chr9	123367689	123367689	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atatacagcccccacaaatcCcattagcagcaccacaacaa	17	5	3	16	0	0	0	0	0	0	0	1	0	1	0	4	0	5	2	4	0	6	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:123367689C>G	ENST00000373930.3	-	6	1699	c.1588G>C	c.(1588-1590)Gga>Cga	p.G530R	MEGF9_ENST00000426959.1_Missense_Mutation_p.G567R	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	530						integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CCCACAAATCCCATTAGCAGC	0.428													5	82					0	0	0	0	G	123367689	C	G	123367689	3	3	27	1	0	0	0	0	1	0	0	0	9533	632	22	4	224	4	MEGF9	9	123367689	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	157450	123367689	17845742	401	5469											
LMX1B	4010	broad.mit.edu	37	chr9	129377708	129377708	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagggctgccagcggccCatctccgaccgcttcctgat	5	8	12	16	4	1	1	0	1	1	0	3	3	2	1	5	2	3	2	5	2	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:129377708C>T	ENST00000355497.5	+	2	193	c.186C>T	c.(184-186)ccC>ccT	p.P62P	LMX1B_ENST00000373474.4_Silent_p.P62P|LMX1B_ENST00000425646.2_Silent_p.P39P|LMX1B_ENST00000526117.1_Silent_p.P62P|LMX1B_ENST00000561065.1_Silent_p.P39P	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	39	LIM zinc-binding 1.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCCAGCGGCCCATCTCCGACC	0.701									Nail-Patella Syndrome				21	16					0	0	0	0	T	129377708	C	T	129377708	2	4	27	1	0	0	0	0	0	0	0	1	8917	581	21	4		4	LMX1B	9	129377708	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	6010019	129377708	11835723	402	5470											
SLC34A3	142680	broad.mit.edu	37	chr9	140130486	140130486	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcggctgcccatcccgcTggccaggcacttcggggtgg	4	7	15	15	3	0	0	0	0	0	0	2	0	1	0	3	6	2	3	3	6	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:140130486T>A	ENST00000538474.1	+	13	1642	c.1418T>A	c.(1417-1419)cTg>cAg	p.L473Q	SLC34A3_ENST00000361134.2_Missense_Mutation_p.L473Q	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	473					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCCATCCCGCTGGCCAGGCAC	0.692											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	47					0	0	0	0	A	140130486	T	A	140130486	3	1	27	1	0	0	0	0	1	0	0	0	14657	1580	55	5	1464	5	SLC34A3	9	140130486	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	10752778	140130486	1082945	403	5471											
FAM171A1	221061	broad.mit.edu	37	chr10	15256456	15256456	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgtggctggtgacggaCagcgggccagggaattctga	7	6	18	10	4	1	2	0	2	1	0	1	4	1	4	2	6	1	1	2	6	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:15256456C>G	ENST00000378116.4	-	8	1137	c.1131G>C	c.(1129-1131)ctG>ctC	p.L377L	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	377						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGGTGACGGACAGCGGGCCAG	0.602													23	43					0	0	0	0	G	15256456	C	G	15256456	2	3	27	1	0	0	0	0	0	0	0	1	5531	465	17	4		4	FAM171A1	10	15256456	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08		15256456	120278291	404	5472											
ITGA8	8516	broad.mit.edu	37	chr10	15617509	15617509	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataaatatgttccaccaaTggtccaacctcctcctcttt	10	14	3	14	0	2	0	1	0	1	0	6	0	6	0	6	1	1	1	6	1	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:15617509T>C	ENST00000378076.3	-	24	2810	c.2457A>G	c.(2455-2457)ccA>ccG	p.P819P		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	819					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTCCACCAATGGTCCAACCT	0.418													14	52					0	0	0	0	C	15617509	T	C	15617509	2	2	27	1	0	0	0	0	0	0	0	1	7935	1451	51	5		5	ITGA8	10	15617509	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	361053	15617509	119917238	405	5473											
FAM188A	80013	broad.mit.edu	37	chr10	15885231	15885231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacaatcccgccaagaaGacttctccgaagaaaacagg	16	5	8	12	2	1	4	0	1	1	3	3	5	2	4	3	1	2	0	3	1	7	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:15885231G>T	ENST00000277632.3	-	3	435	c.215C>A	c.(214-216)tCt>tAt	p.S72Y	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	72					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CCGCCAAGAAGACTTCTCCGA	0.333													5	61					3.59834e-05	4.03049e-05	1	0	T	15885231	G	T	15885231	3	4	27	1	0	0	0	0	1	0	0	0	5556	942	33	2	1174	2	FAM188A	10	15885231	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	267722	15885231	119649516	406	5474											
CUBN	8029	broad.mit.edu	37	chr10	17142004	17142004	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccaggttcacacatacCtggttgctgtgtttcccatc	6	15	7	13	0	2	0	1	0	1	0	5	0	3	0	3	2	2	4	3	2	1	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:17142004C>A	ENST00000377833.4	-	14	1830	c.1765_splice	c.e14+1	p.E589_splice		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	589					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCACACATACCTGGTTGCTGT	0.373													24	71					1.03073e-24	1.68833e-24	1	0	A	17142004	C	A	17142004	5	1	27	1	0	0	0	0	0	0	1	0	4083	695	24	4	9322	4	CUBN	10	17142004	Splice_Site	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1256773	17142004	118392743	407	5475											
SPAG6	9576	broad.mit.edu	37	chr10	22680657	22680657	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttgatccacgctgcaGggtgtaccccagttgtcagt	6	13	10	12	1	2	1	1	1	1	0	3	1	3	1	3	1	2	4	3	1	1	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:22680657G>A	ENST00000376603.2	+	8	1375		c.e8-1		SPAG6_ENST00000376601.1_Splice_Site|SPAG6_ENST00000538630.1_Splice_Site|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Splice_Site|SPAG6_ENST00000313311.6_Splice_Site			O75602	SPAG6_HUMAN	sperm associated antigen 6						cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CCACGCTGCAGGGTGTACCCC	0.468													5	30					0	0	0	0	A	22680657	G	A	22680657	5	1	27	1	0	0	0	0	0	0	1	0	15072	1014	35	4	1035	4	SPAG6	10	22680657	Splice_Site	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5538653	22680657	112854090	408	5476											
GPR158	57512	broad.mit.edu	37	chr10	25701183	25701183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatttggaactttcaggaagGggtccggatcagcatatttc	10	13	11	7	1	2	0	2	0	0	0	4	3	3	3	1	5	2	1	1	5	4	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:25701183G>A	ENST00000376351.3	+	4	1475	c.1116G>A	c.(1114-1116)agG>agA	p.R372R		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	372						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTTCAGGAAGGGGTCCGGATC	0.458													17	94					0	0	0	0	A	25701183	G	A	25701183	2	1	27	1	0	0	0	0	0	0	0	1	6712	1223	43	4		4	GPR158	10	25701183	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3020526	25701183	109833564	409	5477											
CCDC7	221016	broad.mit.edu	37	chr10	32780866	32780866	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaaactgctcattcaatGactaatcgatttaatgccat	15	13	5	8	1	2	2	2	1	0	1	3	3	2	2	1	0	3	1	1	0	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:32780866G>T	ENST00000537047.1	+	6	549	c.527G>T	c.(526-528)tGa>tTa	p.*176L	CCDC7_ENST00000362006.5_Missense_Mutation_p.M271I|CCDC7_ENST00000489718.1_3'UTR|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000277657.6_Missense_Mutation_p.M271I|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000545067.1_Intron			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	0										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				CTCATTCAATGACTAATCGAT	0.259													6	55					2.0095e-06	2.3487e-06	1	0	T	32780866	G	T	32780866	4	4	27	1	0	0	0	0	0	0	0	0	2869	1290	45	2	847	2	CCDC7	10	32780866	Nonstop_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	7079683	32780866	102753881	410	5478											
A1CF	29974	broad.mit.edu	37	chr10	52603857	52603857	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcccaaccaggtggagggCcaccatattttctttgtcca	9	11	8	13	0	1	0	0	0	1	0	3	1	3	1	5	3	1	0	5	3	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:52603857C>A	ENST00000395489.2	-	6	500	c.104G>T	c.(103-105)gGc>gTc	p.G35V	A1CF_ENST00000373995.3_Missense_Mutation_p.G50V|A1CF_ENST00000282641.2_Missense_Mutation_p.G42V|A1CF_ENST00000395495.1_Missense_Mutation_p.G42V|A1CF_ENST00000373993.1_Missense_Mutation_p.G42V|A1CF_ENST00000373997.3_Missense_Mutation_p.G42V|A1CF_ENST00000374001.1_Missense_Mutation_p.G42V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	42					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AGGTGGAGGGCCACCATATTT	0.433													14	61					1.05317e-09	1.36152e-09	1	0	A	52603857	C	A	52603857	3	1	27	1	0	0	0	0	1	0	0	0	2	739	26	4	1699	4	A1CF	10	52603857	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	19822991	52603857	82930890	411	5479											
ANK3	288	broad.mit.edu	37	chr10	61832871	61832871	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaaaaaactgtgacacttCagtcagtttttcttcagcct	12	13	6	10	1	4	1	3	1	1	0	4	2	4	1	1	0	2	1	1	0	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:61832871C>A	ENST00000280772.1	-	37	7959	c.7768G>T	c.(7768-7770)Gaa>Taa	p.E2590*	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2590					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTGACACTTCAGTCAGTTTT	0.418													13	59					4.3838e-07	5.24449e-07	1	0	A	61832871	C	A	61832871	4	1	27	1	0	0	0	0	0	1	0	0	622	835	29	2	5706	2	ANK3	10	61832871	Nonsense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	9229014	61832871	73701876	412	5480											
DNA2	1763	broad.mit.edu	37	chr10	70181996	70181996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttaccttgtctgtattaaGgaaacaaacaggattgttgg	12	15	9	5	0	1	0	0	0	1	0	1	2	1	2	1	3	3	2	1	3	5	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:70181996G>A	ENST00000399180.2	-	17	2940	c.2941C>T	c.(2941-2943)Ctt>Ttt	p.L981F	DNA2_ENST00000358410.3_Missense_Mutation_p.L895F|DNA2_ENST00000399179.2_Intron			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	895					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TCTGTATTAAGGAAACAAACA	0.313													4	8					0	0	0	0	A	70181996	G	A	70181996	3	1	27	1	0	0	0	0	1	0	0	0	4633	1000	35	4	519	4	DNA2	10	70181996	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	8349125	70181996	65352751	413	5481											
ADAMTS14	140766	broad.mit.edu	37	chr10	72462206	72462206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagtgggcagaacctgacGgggacctgcacaatgaaggt	12	5	16	8	1	0	3	0	2	0	1	0	5	0	5	2	5	2	2	2	5	3	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:72462206G>T	ENST00000373208.1	+	3	661	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G221W	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	221					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGAACCTGACGGGGACCTGCA	0.622													7	74					0.00307968	0.00322431	1	0	T	72462206	G	T	72462206	3	4	27	1	0	0	0	0	1	0	0	0	259	1116	39	3	671	3	ADAMTS14	10	72462206	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2280210	72462206	63072541	414	5482											
ADAMTS14	140766	broad.mit.edu	37	chr10	72492069	72492069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgtgccctcaaccatgagGatggcttctcctcagccttc	6	11	9	15	0	3	1	2	1	1	0	5	2	3	2	4	2	3	2	4	2	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:72492069G>A	ENST00000373208.1	+	7	1171	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.D388N	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	388	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAACCATGAGGATGGCTTCTC	0.607													16	31					0	0	0	0	A	72492069	G	A	72492069	3	1	27	1	0	0	0	0	1	0	0	0	259	1174	41	2	1197	2	ADAMTS14	10	72492069	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	29863	72492069	63042678	415	5483											
NRG3	10718	broad.mit.edu	37	chr10	83635400	83635400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtacgtgcccaccgacCtagtggactccaaggggatg	10	6	14	11	2	0	0	0	0	0	0	1	4	1	3	4	4	2	1	4	4	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:83635400C>A	ENST00000404547.1	+	1	304	c.304C>A	c.(304-306)Cta>Ata	p.L102I	NRG3_ENST00000372141.2_Missense_Mutation_p.L102I			P56975	NRG3_HUMAN	neuregulin 3	102					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GCCCACCGACCTAGTGGACTC	0.602													12	41					0.0167234	0.0171358	1	0	A	83635400	C	A	83635400	3	1	27	1	0	0	0	0	1	0	0	0	10720	680	24	4	306	4	NRG3	10	83635400	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	11143331	83635400	51899347	416	5484											
LDB3	11155	broad.mit.edu	37	chr10	88446937	88446937	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggccaccatcatccatgcGcagtacaacacgcccatcag	13	5	7	16	2	2	0	2	0	0	0	3	0	3	0	4	1	3	2	4	1	3	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:88446937G>C	ENST00000429277.2	+	6	946	c.801G>C	c.(799-801)gcG>gcC	p.A267A	LDB3_ENST00000263066.6_Silent_p.A152A|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000372056.4_Silent_p.A267A|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000458213.2_Silent_p.A152A|LDB3_ENST00000372066.3_Silent_p.A152A|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000361373.4_Intron	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	252						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TCATCCATGCGCAGTACAACA	0.612													44	175					0	0	0	0	C	88446937	G	C	88446937	2	2	27	1	0	0	0	0	0	0	0	1	8750	1074	38	3		3	LDB3	10	88446937	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4811537	88446937	47087810	417	5485											
MINPP1	9562	broad.mit.edu	37	chr10	89312134	89312134	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaagaaactgtttcatttTatgaagatctgaagaaccac	16	11	6	8	0	2	5	1	2	1	3	2	5	2	5	1	0	2	1	1	0	6	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:89312134T>A	ENST00000371996.4	+	5	1404	c.1363T>A	c.(1363-1365)Tat>Aat	p.Y455N	MINPP1_ENST00000536010.1_Missense_Mutation_p.Y254N|MINPP1_ENST00000371994.4_3'UTR|MINPP1_ENST00000472891.1_3'UTR	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	455					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		TGTTTCATTTTATGAAGATCT	0.373													28	82					0	0	0	0	A	89312134	T	A	89312134	3	1	27	1	0	0	0	0	1	0	0	0	9657	1754	61	5	1419	5	MINPP1	10	89312134	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	865197	89312134	46222613	418	5486											
HTR7	3363	broad.mit.edu	37	chr10	92508721	92508721	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgataggtggtcctcagGtcccggttgaagaaggcata	9	9	14	9	2	1	2	1	1	0	1	3	3	3	2	2	5	1	2	2	5	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:92508721G>C	ENST00000371721.3	-	2	1412	c.1170C>G	c.(1168-1170)gaC>gaG	p.D390E	HTR7_ENST00000336152.3_Missense_Mutation_p.D390E|HTR7_ENST00000277874.6_Missense_Mutation_p.D390E|HTR7_ENST00000371719.2_Missense_Mutation_p.D390E			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	390					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TGGTCCTCAGGTCCCGGTTGA	0.532													50	180					0	0	0	0	C	92508721	G	C	92508721	3	2	27	1	0	0	0	0	1	0	0	0	7505	1252	44	4	285	4	HTR7	10	92508721	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3196587	92508721	43026026	419	5487											
HECTD2	143279	broad.mit.edu	37	chr10	93221022	93221022	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattttagggaagatgtagAaaaagttaagtcatcaggag	16	11	11	3	0	3	2	3	0	0	2	3	4	3	4	0	2	0	2	0	2	6	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:93221022A>T	ENST00000446394.1	+	4	519	c.419A>T	c.(418-420)gAa>gTa	p.E140V	HECTD2_ENST00000298068.5_Missense_Mutation_p.E140V|HECTD2_ENST00000371681.4_Missense_Mutation_p.E140V			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	140					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GAAGATGTAGAAAAAGTTAAG	0.279													24	92					0	0	0	0	T	93221022	A	T	93221022	3	4	27	1	0	0	0	0	1	0	0	0	7090	246	9	5	433	5	HECTD2	10	93221022	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	712301	93221022	42313725	420	5488											
CYP2C19	1557	broad.mit.edu	37	chr10	96612543	96612543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggagctgtttttattcCtgaccttcattttacagaac	9	16	7	9	0	1	2	1	1	0	1	2	3	2	3	2	1	3	3	2	1	3	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:96612543C>T	ENST00000371321.3	+	9	1427	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	449					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTTTTTATTCCTGACCTTCAT	0.443													20	71					0	0	0	0	T	96612543	C	T	96612543	2	4	27	1	0	0	0	0	0	0	0	1	4198	680	24	4		4	CYP2C19	10	96612543	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3391521	96612543	38922204	421	5489											
TLL2	7093	broad.mit.edu	37	chr10	98165008	98165008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaaaaggggggcttttctCcagtaaccatcccggacctc	9	8	9	15	1	1	0	0	0	1	0	4	1	2	1	5	4	1	2	5	4	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:98165008C>A	ENST00000357947.3	-	10	1473	c.1248G>T	c.(1246-1248)tgG>tgT	p.W416C	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	416	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGGCTTTTCTCCAGTAACCAT	0.453													21	90					5.26018e-13	7.43092e-13	1	0	A	98165008	C	A	98165008	3	1	27	1	0	0	0	0	1	0	0	0	16040	856	30	2	1847	2	TLL2	10	98165008	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1552465	98165008	37369739	422	5490											
TLL2	7093	broad.mit.edu	37	chr10	98170212	98170212	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagtttcccgttgtgtcCtgcagggtctccccacacgc	7	10	10	14	2	1	0	0	0	1	0	4	1	3	0	4	1	1	3	4	1	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:98170212C>T	ENST00000357947.3	-	9	1293	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	356	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCGTTGTGTCCTGCAGGGTCT	0.582													4	21					0	0	0	0	T	98170212	C	T	98170212	2	4	27	1	0	0	0	0	0	0	0	1	16040	680	24	4		4	TLL2	10	98170212	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	5204	98170212	37364535	423	5491											
NDUFB8	4714	broad.mit.edu	37	chr10	102286236	102286236	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccgaagagctgcatacAcatgacatgccaagaaacag	18	4	9	10	1	0	3	0	1	0	2	0	5	0	3	2	0	6	2	2	0	5	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:102286236A>C	ENST00000557395.1	-	4	417	c.388T>G	c.(388-390)Tgt>Ggt	p.C130G	NDUFB8_ENST00000370320.4_Missense_Mutation_p.C130G|NDUFB8_ENST00000370322.1_Missense_Mutation_p.C99G|NDUFB8_ENST00000531258.1_Missense_Mutation_p.C130G|SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000299166.4_Missense_Mutation_p.C130G			O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	130					mitochondrial electron transport, NADH to ubiquinone|transport	endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)	NADH(DB00157)	AGCTGCATACACATGACATGC	0.507													17	43					0	0	0	0	C	102286236	A	C	102286236	3	2	27	1	0	0	0	0	1	0	0	0	10357	159	6	5	180	5	NDUFB8	10	102286236	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	4116024	102286236	33248511	424	5492											
SEMA4G	57715	broad.mit.edu	37	chr10	102743435	102743435	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccgcgcttggtggcctctgCctcatcctggcctcctccct	1	11	10	19	2	2	0	1	0	1	0	5	0	5	0	7	3	1	1	7	3	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:102743435C>T	ENST00000210633.3	+	14	2157	c.2079C>T	c.(2077-2079)tgC>tgT	p.C693C	SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000370250.4_Silent_p.C688C|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000299179.5_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	688					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GTGGCCTCTGCCTCATCCTGG	0.652													5	14					0	0	0	0	T	102743435	C	T	102743435	2	4	27	1	0	0	0	0	0	0	0	1	14123	747	26	4		4	SEMA4G	10	102743435	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	457199	102743435	32791312	425	5493											
KCNIP2	30819	broad.mit.edu	37	chr10	103588855	103588855	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgaagccccggtacaggaCctgcaactccttgcgcgtga	8	8	11	14	3	0	2	0	2	0	0	1	3	1	3	4	2	5	2	4	2	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:103588855C>A	ENST00000358038.3	-	3	622	c.271G>T	c.(271-273)Gtc>Ttc	p.V91F	KCNIP2_ENST00000348850.5_Missense_Mutation_p.V64F|KCNIP2_ENST00000370046.1_Missense_Mutation_p.V59F|KCNIP2_ENST00000353068.3_Missense_Mutation_p.V59F|KCNIP2_ENST00000356640.2_Missense_Mutation_p.V109F|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000343195.4_Missense_Mutation_p.V59F|KCNIP2_ENST00000461105.1_Missense_Mutation_p.V124F	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	109	EF-hand 1; degenerate.				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CGGTACAGGACCTGCAACTCC	0.587													10	52					1.61879e-10	2.12583e-10	1	0	A	103588855	C	A	103588855	3	1	27	1	0	0	0	0	1	0	0	0	8093	507	18	4	583	4	KCNIP2	10	103588855	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	845420	103588855	31945892	426	5494											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105361946	105361946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagttccgtcggacgcctCggaggccatcagtggccgtg	6	7	16	12	5	1	0	1	0	0	0	4	3	2	3	4	5	0	1	4	5	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:105361946C>T	ENST00000369774.4	-	15	3305	c.3029G>A	c.(3028-3030)cGa>cAa	p.R1010Q	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R845Q|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R877Q|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R982Q			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1010					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TCGGACGCCTCGGAGGCCATC	0.667													15	66					0	0	0	0	T	105361946	C	T	105361946	3	4	27	1	0	0	0	0	1	0	0	0	14344	884	31	1	376	1	SH3PXD2A	10	105361946	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1773091	105361946	30172801	427	5495											
SORCS1	114815	broad.mit.edu	37	chr10	108521362	108521362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttaccagtagaacctgtttgGtacaaccccttcttggataa	11	13	7	10	0	1	1	0	0	1	1	1	2	1	2	4	2	4	3	4	2	6	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:108521362G>T	ENST00000263054.6	-	5	950	c.943C>A	c.(943-945)Cca>Aca	p.P315T	SORCS1_ENST00000344440.6_Missense_Mutation_p.P315T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	315						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AACCTGTTTGGTACAACCCCT	0.393													12	47					0.000422831	0.000459534	1	0	T	108521362	G	T	108521362	3	4	27	1	0	0	0	0	1	0	0	0	15018	1261	44	4	2885	4	SORCS1	10	108521362	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3159416	108521362	27013385	428	5496											
SHOC2	8036	broad.mit.edu	37	chr10	112724338	112724338	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgacaatacgatcaaacgGccaaacccagcacctgggac	14	5	9	13	2	1	1	1	1	0	0	1	3	1	2	3	2	4	2	3	2	4	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:112724338G>T	ENST00000369452.4	+	2	567	c.222G>T	c.(220-222)cgG>cgT	p.R74R	SHOC2_ENST00000265277.5_Silent_p.R74R|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	74					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CGATCAAACGGCCAAACCCAG	0.458													17	76					4.14922e-12	5.72868e-12	1	0	T	112724338	G	T	112724338	2	4	27	1	0	0	0	0	0	0	0	1	14375	1190	42	4		4	SHOC2	10	112724338	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4202976	112724338	22810409	429	5497											
NHLRC2	374354	broad.mit.edu	37	chr10	115662245	115662245	+	Frame_Shift_Del	DEL	G	G	-																															taaagaatttatttgcttttGgtgatgttgatggagtagga																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:115662245delG	ENST00000369301.3	+	8	1599	c.1387delG	c.(1387-1389)gtfs	p.G463fs		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	463					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ATTTGCTTTTGGTGATGTTGA	0.303													22	64	---	---	---	---					-	115662245	G	-	115662245	7	5	27	1	0	1	0	1	0	0	0	0	10476	1348	47	0	1417	0	NHLRC2	10	115662245	Frame_Shift_Del	DEL	G	TCGA-BA-A6DA-01A-31D-A31L-08	2937907	115662245	19872502	430	5498											
TDRD1	56165	broad.mit.edu	37	chr10	115985873	115985873	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgtggaagtgctctatGcagactatggaaacattgaa	13	11	11	6	0	1	3	0	2	1	1	1	5	1	5	0	2	3	2	0	2	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:115985873G>C	ENST00000251864.2	+	22	3226	c.3073G>C	c.(3073-3075)Gca>Cca	p.A1025P	TDRD1_ENST00000369280.1_Missense_Mutation_p.A1025P|TDRD1_ENST00000369282.1_Missense_Mutation_p.A1025P|TDRD1_ENST00000422662.1_Missense_Mutation_p.A629P|TDRD1_ENST00000369281.2_Missense_Mutation_p.A911P	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1025	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AGTGCTCTATGCAGACTATGG	0.433													11	56					0	0	0	0	C	115985873	G	C	115985873	3	2	27	1	0	0	0	0	1	0	0	0	15824	1319	46	4	3155	4	TDRD1	10	115985873	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	323628	115985873	19548874	431	5499											
PDZD8	118987	broad.mit.edu	37	chr10	119043865	119043865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttctttcaaatatttGaagtgaatagtaatgtcacc	12	16	5	8	0	4	2	2	2	2	0	5	2	4	2	2	0	0	1	2	0	6	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:119043865G>T	ENST00000334464.5	-	5	2618	c.2379C>A	c.(2377-2379)ttC>ttA	p.F793L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	793					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCAAATATTTGAAGTGAATAG	0.378													11	35					6.40141e-05	7.09199e-05	1	0	T	119043865	G	T	119043865	3	4	27	1	0	0	0	0	1	0	0	0	11776	1281	45	2	1089	2	PDZD8	10	119043865	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3057992	119043865	16490882	432	5500											
C10orf88	80007	broad.mit.edu	37	chr10	124708225	124708225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagataactttgacccCatggactccattatggtttg	10	12	9	10	0	0	2	0	1	0	1	1	4	1	3	4	3	1	1	4	3	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:124708225C>A	ENST00000481909.1	-	4	812	c.588G>T	c.(586-588)atG>atT	p.M196I	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	196										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		ACTTTGACCCCATGGACTCCA	0.423													15	38					1.49906e-05	1.69153e-05	1	0	A	124708225	C	A	124708225	3	1	27	1	0	0	0	0	1	0	0	0	1632	594	21	4	761	4	C10orf88	10	124708225	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	5664360	124708225	10826522	433	5501											
NPS	594857	broad.mit.edu	37	chr10	129347804	129347805	+	Frame_Shift_Ins	INS	-	-	T																															cgctgtccacaatgcatgtgINSttttggtgttatccagttcc																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:129347804_129347805insT	ENST00000398023.1	+	2	80_81	c.60_61insT	c.(58-63)gttttgfs	p.L21fs		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	21					neuropeptide signaling pathway	extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CAATGCATGTGTTTTGGTGTTA	0.356													8	54	---	---	---	---					T	129347805	-	T	129347804	7	5	27	1	0	1	1	0	0	0	0	0	10670	1364	48	0	66	0	NPS	10	129347804	Frame_Shift_Ins	INS	-	TCGA-BA-A6DA-01A-31D-A31L-08	4639579	129347804	6186943	434	5502											
TCERG1L	256536	broad.mit.edu	37	chr10	132965059	132965059	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacacgagccccgaaactgaCcttgtcttctttgtctccat	8	12	6	15	2	3	1	0	1	3	0	4	3	3	1	4	0	2	0	4	0	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:132965059C>A	ENST00000368642.4	-	5	1031		c.e5+1			NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like											cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CCGAAACTGACCTTGTCTTCT	0.592													7	21					3.09899e-07	3.73677e-07	1	0	A	132965059	C	A	132965059	5	1	27	1	0	0	0	0	0	0	1	0	15780	521	18	4	846	4	TCERG1L	10	132965059	Splice_Site	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3617255	132965059	2569688	435	5503											
JAKMIP3	282973	broad.mit.edu	37	chr10	133976814	133976814	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcgcgagaagctcaaGgtggccgtggagcagtggaa	11	4	19	7	3	1	1	1	0	0	1	1	6	1	4	1	5	3	2	1	5	3	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:133976814G>C	ENST00000298622.4	+	19	2454	c.2316G>C	c.(2314-2316)aaG>aaC	p.K772N	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGAAGCTCAAGGTGGCCGTGG	0.652													7	18					0	0	0	0	C	133976814	G	C	133976814	3	2	27	1	0	0	0	0	1	0	0	0	7995	991	35	4	2390	4	JAKMIP3	10	133976814	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1011755	133976814	1557933	436	5504											
KNDC1	85442	broad.mit.edu	37	chr10	135038256	135038256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtcgtacctcaagcaGaggattgcccgcttcagcgg	8	8	11	14	3	2	1	2	0	0	1	4	2	3	2	3	2	4	3	3	2	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:135038256G>T	ENST00000304613.3	+	30	5133	c.5112G>T	c.(5110-5112)caG>caT	p.Q1704H	KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1706H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1704	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		ACCTCAAGCAGAGGATTGCCC	0.592													19	40					2.94398e-08	3.65598e-08	1	0	T	135038256	G	T	135038256	3	4	27	1	0	0	0	0	1	0	0	0	8478	933	33	2	5230	2	KNDC1	10	135038256	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1061442	135038256	496491	437	5505											
TUBGCP2	10844	broad.mit.edu	37	chr10	135094821	135094821	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctcacagtcactggtgctAtagatgctcagccgggccag	8	9	12	12	1	3	1	3	0	0	1	3	1	3	1	2	2	4	3	2	2	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:135094821A>G	ENST00000368563.2	-	17	2885	c.2529T>C	c.(2527-2529)taT>taC	p.Y843Y	TUBGCP2_ENST00000252936.3_Silent_p.Y843Y|TUBGCP2_ENST00000417178.2_Silent_p.Y713Y|TUBGCP2_ENST00000368562.1_Silent_p.Y436Y|TUBGCP2_ENST00000543663.1_Silent_p.Y871Y	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	843					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CACTGGTGCTATAGATGCTCA	0.632													10	63					0	0	0	0	G	135094821	A	G	135094821	2	3	27	1	0	0	0	0	0	0	0	1	16862	456	16	5		5	TUBGCP2	10	135094821	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	56565	135094821	439926	438	5506											
TNNT3	7140	broad.mit.edu	37	chr11	1959666	1959666	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacttgcttcccatttgcAgcagcaagaaggctgggacc	10	9	10	12	0	1	1	1	0	0	1	2	2	2	2	2	2	4	5	2	2	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:1959666A>G	ENST00000381558.1	+	15	977		c.e15-1		TNNT3_ENST00000381561.4_Splice_Site|TNNT3_ENST00000278317.6_Splice_Site|TNNT3_ENST00000446240.1_Splice_Site|TNNT3_ENST00000397304.2_Splice_Site|TNNT3_ENST00000360603.3_Splice_Site|TNNT3_ENST00000397301.1_Splice_Site|TNNT3_ENST00000381549.3_Splice_Site|TNNT3_ENST00000381589.3_Splice_Site|TNNT3_ENST00000381548.3_Splice_Site|TNNT3_ENST00000381579.3_Splice_Site			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)						muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		TCCCATTTGCAGCAGCAAGAA	0.662													16	47					0	0	0	0	G	1959666	A	G	1959666	5	3	27	1	0	0	0	0	0	0	1	0	16426	202	7	5	865	5	TNNT3	11	1959666	Splice_Site	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08		1959666	133046850	439	5507											
TRPM5	29850	broad.mit.edu	37	chr11	2432736	2432738	+	In_Frame_Del	DEL	GAA	GAA	-																															cacacgctcagaaagaagagGaagaagaagacgtccttcat																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:2432736_2432738delGAA	ENST00000452833.1	-	18	2640_2642	c.2632_2634delTTC	c.(2632-2634)del	p.F878del	TRPM5_ENST00000528453.1_In_Frame_Del_p.F876del|TRPM5_ENST00000155858.6_In_Frame_Del_p.F876del|TRPM5_ENST00000533060.1_In_Frame_Del_p.F876del			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	876						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAAAGAAGAGGAAGAAGAAGACG	0.675													19	42	---	---	---	---					-	2432738	GAA	-	2432736	7	5	27	1	0	1	0	1	0	0	0	0	16684	1165	41	0	897	0	TRPM5	11	2432736	In_Frame_Del	DEL	GAA	TCGA-BA-A6DA-01A-31D-A31L-08	473070	2432736	132573780	440	5508											
OR51F2	119694	broad.mit.edu	37	chr11	4842795	4842795	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggaaatagcatgatcctGtttgtggtcctctgtgaacg	8	14	11	8	1	2	2	0	2	2	0	4	3	4	3	2	2	2	2	2	2	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:4842795G>C	ENST00000322110.5	+	1	245	c.180G>C	c.(178-180)ctG>ctC	p.L60L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATGATCCTGTTTGTGGTCC	0.483													53	131					0	0	0	0	C	4842795	G	C	4842795	2	2	27	1	0	0	0	0	0	0	0	1	11168	1364	48	4		4	OR51F2	11	4842795	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2410059	4842795	130163721	441	5509											
OR51B6	390058	broad.mit.edu	37	chr11	5372757	5372757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggggctcaataagtctgCttccaccttccagcttactg	9	12	8	12	0	2	0	1	0	1	0	4	0	4	0	3	2	3	3	3	2	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:5372757C>T	ENST00000380219.1	+	1	20	c.20C>T	c.(19-21)gCt>gTt	p.A7V	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATAAGTCTGCTTCCACCTTC	0.433													6	16					0	0	0	0	T	5372757	C	T	5372757	3	4	27	1	0	0	0	0	1	0	0	0	11163	797	28	4	22	4	OR51B6	11	5372757	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	529962	5372757	129633759	442	5510											
OR52B2	255725	broad.mit.edu	37	chr11	6190924	6190924	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgatgaggataacatcCaagatgaccatgacaatggg	16	6	11	8	1	0	4	0	3	0	1	1	6	1	5	2	2	2	0	2	2	3	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:6190924C>A	ENST00000530810.1	-	1	714	c.633G>T	c.(631-633)ttG>ttT	p.L211F	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATAACATCCAAGATGACCA	0.507													10	31					0.000442599	0.000478175	1	0	A	6190924	C	A	6190924	3	1	27	1	0	0	0	0	1	0	0	0	11182	593	21	4	341	4	OR52B2	11	6190924	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	818167	6190924	128815592	443	5511											
DNHD1	144132	broad.mit.edu	37	chr11	6519792	6519792	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagctgtactgctgggcacCctgggtccaaacccacctcc	7	7	10	17	0	0	0	0	0	0	0	2	0	2	0	5	2	4	5	5	2	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:6519792C>A	ENST00000254579.6	+	3	911	c.347C>A	c.(346-348)cCc>cAc	p.P116H	DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000527990.2_Missense_Mutation_p.P116H|DNHD1_ENST00000354685.3_Missense_Mutation_p.P116H	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	116					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCTGGGCACCCTGGGTCCAA	0.547													34	127					5.8336e-16	8.84231e-16	1	0	A	6519792	C	A	6519792	3	1	27	1	0	0	0	0	1	0	0	0	4704	623	22	4	349	4	DNHD1	11	6519792	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	328868	6519792	128486724	444	5512											
DCHS1	8642	broad.mit.edu	37	chr11	6643193	6643193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggagccttcatggctgatGggggagcggtgagaagctgg	8	7	20	6	1	1	2	1	2	0	1	1	5	1	4	1	6	3	2	1	6	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:6643193G>A	ENST00000299441.3	-	21	10125	c.9714C>T	c.(9712-9714)ccC>ccT	p.P3238P	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3238					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGCTGATGGGGGAGCGGT	0.632													8	31					0	0	0	0	A	6643193	G	A	6643193	2	1	27	1	0	0	0	0	0	0	0	1	4319	1335	47	4		4	DCHS1	11	6643193	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	123401	6643193	128363323	445	5513											
NLRP10	338322	broad.mit.edu	37	chr11	7981599	7981599	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagctgtcttttttcgaGatgtccagtaaaaactgcat	12	13	9	7	1	1	2	0	0	1	2	3	4	2	2	1	0	3	3	1	0	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:7981599G>T	ENST00000328600.2	-	2	1721	c.1560C>A	c.(1558-1560)atC>atA	p.I520I		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	520							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTTTTTCGAGATGTCCAGTA	0.463													14	41					2.62699e-14	3.84786e-14	1	0	T	7981599	G	T	7981599	2	4	27	1	0	0	0	0	0	0	0	1	10542	932	33	2		2	NLRP10	11	7981599	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1338406	7981599	127024917	446	5514											
EIF4G2	1982	broad.mit.edu	37	chr11	10820763	10820763	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatacaagtcctctcaccttTtgggaagttgctgttatagc	9	14	9	9	0	1	0	1	0	1	0	3	2	2	1	2	1	3	3	2	1	5	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:10820763T>C	ENST00000526148.1	-	20	3043	c.2533A>G	c.(2533-2535)Aaa>Gaa	p.K845E	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.K845E|EIF4G2_ENST00000396525.2_Missense_Mutation_p.K807E|EIF4G2_ENST00000339995.5_Missense_Mutation_p.K845E	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	845	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTCTCACCTTTTGGGAAGTTG	0.373													25	52					0	0	0	0	C	10820763	T	C	10820763	3	2	27	1	0	0	0	0	1	0	0	0	5075	1850	64	5	202	5	EIF4G2	11	10820763	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	2839164	10820763	124185753	447	5515											
FAR1	84188	broad.mit.edu	37	chr11	13733495	13733495	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggaaaggaattcttcgAacaatacgtgcctccaacaa	15	7	9	10	2	1	0	0	0	1	0	3	3	2	2	2	2	4	1	2	2	7	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:13733495A>T	ENST00000354817.3	+	7	933	c.789A>T	c.(787-789)cgA>cgT	p.R263R	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	263					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GAATTCTTCGAACAATACGTG	0.373													8	27					0	0	0	0	T	13733495	A	T	13733495	2	4	27	1	0	0	0	0	0	0	0	1	5719	233	9	5		5	FAR1	11	13733495	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	2912732	13733495	121273021	448	5516											
CALCB	797	broad.mit.edu	37	chr11	15096346	15096346	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcctccaggcggcgccaTtcaggtgagacagcctggag	8	5	15	13	2	1	1	1	1	0	1	2	3	2	2	4	4	2	1	4	4	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:15096346T>C	ENST00000523376.1	+	7	1377	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L	CALCB_ENST00000533448.1_Missense_Mutation_p.F28L|CALCB_ENST00000324229.6_Missense_Mutation_p.F28L			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	28					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GGCGGCGCCATTCAGGTGAGA	0.617											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	38					0	0	0	0	C	15096346	T	C	15096346	3	2	27	1	0	0	0	0	1	0	0	0	2601	1493	52	5	84	5	CALCB	11	15096346	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1362851	15096346	119910170	449	5517											
SOX6	55553	broad.mit.edu	37	chr11	16077304	16077304	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaggcgagtgtaccttaacTtgagttacagggctggtccc	9	10	12	10	1	0	1	0	1	0	0	1	2	1	1	2	3	3	3	2	3	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:16077304T>C	ENST00000352083.6	-	10	1322	c.1245A>G	c.(1243-1245)caA>caG	p.Q415Q	SOX6_ENST00000528252.1_Silent_p.Q374Q|SOX6_ENST00000316399.6_Silent_p.Q415Q|SOX6_ENST00000528429.1_Silent_p.Q415Q|SOX6_ENST00000396356.3_Silent_p.Q415Q|SOX6_ENST00000527619.1_Silent_p.Q377Q			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	415					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GTACCTTAACTTGAGTTACAG	0.453													12	42					0	0	0	0	C	16077304	T	C	16077304	2	2	27	1	0	0	0	0	0	0	0	1	15043	1606	56	5		5	SOX6	11	16077304	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	980958	16077304	118929212	450	5518											
SAAL1	113174	broad.mit.edu	37	chr11	18103051	18103051	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccctgagccaccgtctcCtaaaacaacaacaagattta	15	8	4	14	1	1	2	0	1	1	1	3	2	2	2	4	0	4	0	4	0	6	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:18103051C>G	ENST00000524803.1	-	11	1289		c.e11-1		SAAL1_ENST00000529318.1_Splice_Site|SAAL1_ENST00000300013.4_Splice_Site			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1						acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						CCACCGTCTCCTAAAACAACA	0.378													10	30					0	0	0	0	G	18103051	C	G	18103051	5	3	27	1	0	0	0	0	0	0	1	0	13886	695	24	4	193	4	SAAL1	11	18103051	Splice_Site	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2025747	18103051	116903465	451	5519											
NAV2	89797	broad.mit.edu	37	chr11	20070386	20070386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcagcaaggtaacctaGactccccgtcaggcagtggc	10	7	11	13	1	2	2	2	1	0	1	3	2	3	2	3	3	2	3	3	3	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:20070386G>T	ENST00000396085.1	+	15	4376	c.4015G>T	c.(4015-4017)Gac>Tac	p.D1339Y	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Missense_Mutation_p.D425Y|NAV2_ENST00000360655.4_Missense_Mutation_p.D1275Y|NAV2_ENST00000396087.3_Missense_Mutation_p.D1362Y|NAV2_ENST00000527559.2_Missense_Mutation_p.D1291Y|NAV2_ENST00000533917.1_Missense_Mutation_p.D425Y|NAV2_ENST00000540292.1_Missense_Mutation_p.D1293Y|NAV2_ENST00000349880.4_Missense_Mutation_p.D1339Y	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1362						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGTAACCTAGACTCCCCGTC	0.557													33	96					1.56442e-22	2.5488e-22	1	0	T	20070386	G	T	20070386	3	4	27	1	0	0	0	0	1	0	0	0	10254	942	33	2	4182	2	NAV2	11	20070386	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1967335	20070386	114936130	452	5520											
DBX1	120237	broad.mit.edu	37	chr11	20180737	20180737	+	Splice_Site	SNP	C	C	A																															agaagggggacgagacctacCtgggaaataagaagatctga																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:20180737C>A	ENST00000524983.2	-	2	757	c.469_splice	c.e2+1	p.A157_splice	DBX1_ENST00000227256.3_Splice_Site_p.A157_splice			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	157					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CGAGACCTACCTGGGAAATAA	0.612													12	65					1.08611e-07	1.3307e-07	1	0	A	20180737	C	A	20180737	5	1	27	1	0	0	0	0	0	0	1	0	4292	695	24	4	691	4	DBX1	11	20180737	Splice_Site	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	110351	20180737	114825779	453	5521	55	2									
DBX1	120237	broad.mit.edu	37	chr11	20180738	20180738	+	Splice_Site	SNP	T	T	G																															gaagggggacgagacctaccTgggaaataagaagatctgat																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:20180738T>G	ENST00000524983.2	-	2	756	c.469_splice	c.e2+1	p.P156_splice	DBX1_ENST00000227256.3_Splice_Site_p.P156_splice			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	156					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GAGACCTACCTGGGAAATAAG	0.607													12	67					0	0	0	0	G	20180738	T	G	20180738	5	3	27	1	0	0	0	0	0	0	1	0	4292	1594	55	5	692	5	DBX1	11	20180738	Splice_Site	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1	20180738	114825778	454	5522	55	2									
ZNF408	79797	broad.mit.edu	37	chr11	46726653	46726653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgcccctgccccttGcccatgccctgtgtgtgggc	2	9	12	18	0	0	0	0	0	0	0	0	0	0	0	7	1	5	1	7	1	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:46726653G>T	ENST00000311764.2	+	5	1633	c.1403G>T	c.(1402-1404)tGc>tTc	p.C468F		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTGCCCCTTGCCCATGCCCT	0.662													35	97					2.75727e-19	4.38286e-19	1	0	T	46726653	G	T	46726653	3	4	27	1	0	0	0	0	1	0	0	0	17983	1319	46	4	1453	4	ZNF408	11	46726653	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	26545915	46726653	88279863	455	5523											
NR1H3	10062	broad.mit.edu	37	chr11	47283484	47283484	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcaggtgatgcttctggaGacatctcggaggtacaaccc	9	9	13	10	1	2	2	0	1	2	1	3	4	2	3	1	4	4	3	1	4	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:47283484G>A	ENST00000467728.1	+	6	2141	c.903G>A	c.(901-903)gaG>gaA	p.E301E	NR1H3_ENST00000441012.2_Silent_p.E301E|NR1H3_ENST00000481889.2_Silent_p.E320E|NR1H3_ENST00000405853.3_Silent_p.E241E|NR1H3_ENST00000407404.1_Silent_p.E241E|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000527949.1_Silent_p.E150E|NR1H3_ENST00000405576.1_Silent_p.E196E|NR1H3_ENST00000395397.3_Silent_p.E256E			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	301	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TGCTTCTGGAGACATCTCGGA	0.527													37	149					0	0	0	0	A	47283484	G	A	47283484	2	1	27	1	0	0	0	0	0	0	0	1	10689	933	33	2		2	NR1H3	11	47283484	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	556831	47283484	87723032	456	5524											
TRIM48	79097	broad.mit.edu	37	chr11	55036774	55036774	+	Missense_Mutation	SNP	G	G	T																															gaatctagcgctcagggcagGgcccatcactggactgaggg																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:55036774G>T	ENST00000417545.2	+	5	721	c.635G>T	c.(634-636)gGg>gTg	p.G212V		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	196						intracellular	zinc ion binding	p.G212E(1)|p.G196E(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTCAGGGCAGGGCCCATCACT	0.502													9	45					3.07112e-06	3.55317e-06	1	0	T	55036774	G	T	55036774	3	4	27	1	0	0	0	0	1	0	0	0	16618	1232	43	4	653	4	TRIM48	11	55036774	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	7753290	55036774	79969742	457	5525	56	2									
TRIM48	79097	broad.mit.edu	37	chr11	55036775	55036775	+	Silent	SNP	G	G	T																															aatctagcgctcagggcaggGcccatcactggactgaggga																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:55036775G>T	ENST00000417545.2	+	5	722	c.636G>T	c.(634-636)ggG>ggT	p.G212G		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	196						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCAGGGCAGGGCCCATCACTG	0.507													9	45					3.07112e-06	3.55317e-06	1	0	T	55036775	G	T	55036775	2	4	27	1	0	0	0	0	0	0	0	1	16618	1190	42	4		4	TRIM48	11	55036775	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1	55036775	79969741	458	5526	56	2									
OR5D13	390142	broad.mit.edu	37	chr11	55541504	55541504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tactcagacccctatatcagCcagaggctatgctttattat	11	13	6	11	0	2	2	2	0	0	2	2	2	2	2	3	1	3	2	3	1	6	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:55541504C>A	ENST00000361760.1	+	1	591	c.591C>A	c.(589-591)agC>agA	p.S197R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CCTATATCAGCCAGAGGCTAT	0.358													20	77					1.22574e-08	1.54741e-08	1	0	A	55541504	C	A	55541504	3	1	27	1	0	0	0	0	1	0	0	0	11225	738	26	4	593	4	OR5D13	11	55541504	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	504729	55541504	79465012	459	5527											
OR5J2	282775	broad.mit.edu	37	chr11	55944181	55944181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaaagctgtgctttttgtgGtgttcctggtgatttacgcc	6	17	11	7	1	0	1	0	1	0	0	1	1	1	1	2	2	3	3	2	2	3	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:55944181G>T	ENST00000312298.1	+	1	88	c.88G>T	c.(88-90)Gtg>Ttg	p.V30L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCTTTTTGTGGTGTTCCTGGT	0.388													37	123					2.87052e-16	4.38738e-16	1	0	T	55944181	G	T	55944181	3	4	27	1	0	0	0	0	1	0	0	0	11236	1261	44	4	90	4	OR5J2	11	55944181	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	402677	55944181	79062335	460	5528											
OR5M9	390162	broad.mit.edu	37	chr11	56230731	56230731	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactctgaagctgaggactGatgctaatcaaaatgatcat	14	10	10	7	0	3	4	2	4	1	0	3	6	3	6	0	2	2	2	0	2	4	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:56230731G>A	ENST00000279791.1	-	1	146	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GCTGAGGACTGATGCTAATCA	0.448													13	36					0	0	0	0	A	56230731	G	A	56230731	2	1	27	1	0	0	0	0	0	0	0	1	11248	1280	45	2		2	OR5M9	11	56230731	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	286550	56230731	78775785	461	5529											
OR5M8	219484	broad.mit.edu	37	chr11	56257933	56257933	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaaagtatatcttcattGacagctctttgattaatgct	14	15	6	6	0	3	3	1	2	2	1	3	3	3	3	0	0	2	3	0	0	6	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:56257933G>C	ENST00000327216.2	-	1	938	c.914C>G	c.(913-915)tCa>tGa	p.S305*		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TATCTTCATTGACAGCTCTTT	0.303													5	18					0	0	0	0	C	56257933	G	C	56257933	4	2	27	1	0	0	0	0	0	1	0	0	11247	1294	45	2	25	2	OR5M8	11	56257933	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	27202	56257933	78748583	462	5530											
OR9G1	390174	broad.mit.edu	37	chr11	56467883	56467883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgcagaggagcaatcataCagtgactgagtttatactgc	13	10	10	8	0	1	3	1	2	0	1	1	4	1	4	0	1	5	3	0	1	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:56467883C>A	ENST00000312153.1	+	1	20	c.20C>A	c.(19-21)aCa>aAa	p.T7K		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGCAATCATACAGTGACTGAG	0.468													7	57					0.000157383	0.000171862	1	0	A	56467883	C	A	56467883	3	1	27	1	0	0	0	0	1	0	0	0	11321	478	17	4	22	4	OR9G1	11	56467883	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	209950	56467883	78538633	463	5531											
OR9I1	219954	broad.mit.edu	37	chr11	57886290	57886290	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaggatgacggaggcattGgccaaaatcacaaaattgcc	15	7	10	9	1	2	1	2	1	0	0	2	3	2	3	2	4	1	1	2	4	4	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:57886290G>T	ENST00000302610.1	-	1	626	c.627C>A	c.(625-627)gcC>gcA	p.A209A	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				CGGAGGCATTGGCCAAAATCA	0.473													13	36					2.68362e-12	3.73338e-12	1	0	T	57886290	G	T	57886290	2	4	27	1	0	0	0	0	0	0	0	1	11324	1335	47	4		4	OR9I1	11	57886290	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1418407	57886290	77120226	464	5532											
OR9Q1	219956	broad.mit.edu	37	chr11	57947814	57947814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaagtgaaggaggccCtgagaaaaattctcaataga	18	6	11	6	0	1	3	1	2	1	2	2	6	1	5	1	3	0	0	1	3	7	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:57947814C>A	ENST00000335397.3	+	3	1214	c.898C>A	c.(898-900)Ctg>Atg	p.L300M		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GAAGGAGGCCCTGAGAAAAAT	0.473													14	53					0.00185496	0.00196004	1	0	A	57947814	C	A	57947814	3	1	27	1	0	0	0	0	1	0	0	0	11326	680	24	4	900	4	OR9Q1	11	57947814	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	61524	57947814	77058702	465	5533											
OR10W1	81341	broad.mit.edu	37	chr11	58034996	58034996	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaatggccacatagcggTcataggccatggcagccaag	12	5	13	11	1	1	0	1	0	0	0	1	0	1	0	3	5	2	2	3	5	4	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:58034996T>A	ENST00000395079.2	-	1	736	c.335A>T	c.(334-336)gAc>gTc	p.D112V		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CACATAGCGGTCATAGGCCAT	0.532													17	39					0	0	0	0	A	58034996	T	A	58034996	3	1	27	1	0	0	0	0	1	0	0	0	10992	1667	58	5	586	5	OR10W1	11	58034996	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	87182	58034996	76971520	466	5534											
DTX4	23220	broad.mit.edu	37	chr11	58956686	58956686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgtgtgtctcaccaGgccaccaaagctggtcctac	7	9	10	15	0	1	0	1	0	1	0	3	0	2	0	5	2	3	2	5	2	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:58956686G>T	ENST00000227451.3	+	4	1153	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M	DTX4_ENST00000532982.1_Missense_Mutation_p.R244M|DTX4_ENST00000531902.1_3'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	350					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				TGTCTCACCAGGCCACCAAAG	0.552													3	27					0.004672	0.00485803	1	0	T	58956686	G	T	58956686	3	4	27	1	0	0	0	0	1	0	0	0	4833	1000	35	4	1063	4	DTX4	11	58956686	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	921690	58956686	76049830	467	5535											
MS4A14	84689	broad.mit.edu	37	chr11	60183199	60183199	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaattgaacctttgcctcCcacactagagaaaaagccct	15	8	6	12	0	0	3	0	1	0	2	1	4	1	3	4	0	3	0	4	0	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:60183199C>G	ENST00000300187.6	+	5	1035	c.758C>G	c.(757-759)cCc>cGc	p.P253R	MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.P236R|MS4A14_ENST00000531783.1_Missense_Mutation_p.P286R|MS4A14_ENST00000531787.1_Missense_Mutation_p.P141R	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	253						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTTTGCCTCCCACACTAGAG	0.373													16	68					0	0	0	0	G	60183199	C	G	60183199	3	3	27	1	0	0	0	0	1	0	0	0	9928	623	22	4	776	4	MS4A14	11	60183199	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1226513	60183199	74823317	468	5536											
SLC22A12	116085	broad.mit.edu	37	chr11	64368360	64368360	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccgcactgcttctgccCgagacccagagcttgccgct	5	8	11	17	3	1	2	0	0	1	2	1	3	1	2	4	1	4	4	4	1	0	2	rs145764379		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:64368360C>A	ENST00000377574.1	+	9	2295	c.1548C>A	c.(1546-1548)ccC>ccA	p.P516P	SLC22A12_ENST00000377567.2_Silent_p.P408P|SLC22A12_ENST00000377572.1_Silent_p.P408P|SLC22A12_ENST00000336464.7_Silent_p.P482P|SLC22A12_ENST00000473690.1_Silent_p.P295P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	516					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TGCTTCTGCCCGAGACCCAGA	0.667													33	134					6.97489e-18	1.08789e-17	1	0	A	64368360	C	A	64368360	2	1	27	1	0	0	0	0	0	0	0	1	14531	639	23	3		3	SLC22A12	11	64368360	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	4185161	64368360	70638156	469	5537											
PC	5091	broad.mit.edu	37	chr11	66631301	66631301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcttggtggcggccgTggggtggtctttgccgtggg	1	12	19	9	3	3	0	1	0	2	0	3	0	3	0	2	7	1	1	2	7	0	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:66631301T>C	ENST00000393960.1	-	12	1593	c.1312A>G	c.(1312-1314)Acg>Gcg	p.T438A	PC_ENST00000393955.2_Missense_Mutation_p.T438A|PC_ENST00000355677.3_Missense_Mutation_p.T438A|PC_ENST00000524491.1_Missense_Mutation_p.T398A|PC_ENST00000393958.2_Missense_Mutation_p.T438A	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	438	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGGCGGCCGTGGGGTGGTCT	0.647													37	140					0	0	0	0	C	66631301	T	C	66631301	3	2	27	1	0	0	0	0	1	0	0	0	11568	1696	59	5	2272	5	PC	11	66631301	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	2262941	66631301	68375215	470	5538											
PAAF1	80227	broad.mit.edu	37	chr11	73620528	73620528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcacgactttgggattgtgGgcgctcagcctgcttgggag	6	10	16	9	2	1	0	1	0	0	0	1	3	1	2	1	3	3	3	1	3	0	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:73620528G>A	ENST00000544909.1	+	5	877	c.620G>A	c.(619-621)gGg>gAg	p.G207E	PAAF1_ENST00000536003.1_Missense_Mutation_p.G189E|PAAF1_ENST00000310571.3_Missense_Mutation_p.G206E|PAAF1_ENST00000541951.1_Missense_Mutation_p.G91E|PAAF1_ENST00000376384.5_Missense_Mutation_p.G189E|PAAF1_ENST00000544552.1_Missense_Mutation_p.G189E|PAAF1_ENST00000535604.1_Missense_Mutation_p.G91E			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	206					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TGGGATTGTGGGCGCTCAGCC	0.532													25	50					0	0	0	0	A	73620528	G	A	73620528	3	1	27	1	0	0	0	0	1	0	0	0	11433	1232	43	4	643	4	PAAF1	11	73620528	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	6989227	73620528	61385988	471	5539											
BSX	390259	broad.mit.edu	37	chr11	122848490	122848490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggcggcctctgaaccgCgggggctgccctcggggctt	2	7	18	14	5	1	1	0	1	1	0	2	1	1	1	3	7	2	2	3	7	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:122848490C>T	ENST00000343035.2	-	3	617	c.569G>A	c.(568-570)cGc>cAc	p.R190H		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	190										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CTCTGAACCGCGGGGGCTGCC	0.652													10	24					0	0	0	0	T	122848490	C	T	122848490	3	4	27	1	0	0	0	0	1	0	0	0	1543	768	27	1	135	1	BSX	11	122848490	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	49227962	122848490	12158026	472	5540											
OR10S1	219873	broad.mit.edu	37	chr11	123847811	123847811	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggcgagctttaggacaggGggtatgtcgcagaagaagta	12	7	16	6	2	0	2	0	0	0	2	1	4	0	3	0	4	1	4	0	4	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:123847811G>T	ENST00000531945.1	-	1	677	c.588C>A	c.(586-588)ccC>ccA	p.P196P		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTAGGACAGGGGGTATGTCGC	0.567													16	41					7.81268e-19	1.23757e-18	1	0	T	123847811	G	T	123847811	2	4	27	1	0	0	0	0	0	0	0	1	10989	1219	43	4		4	OR10S1	11	123847811	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	999321	123847811	11158705	473	5541											
IGSF9B	22997	broad.mit.edu	37	chr11	133789689	133789689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggtcggagcaattcctcccCcgtccttcgaggggaaggcg	6	7	14	14	5	0	0	0	0	0	0	5	3	3	2	4	5	1	1	4	5	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:133789689C>T	ENST00000321016.8	-	18	4161	c.3931G>A	c.(3931-3933)Ggg>Agg	p.G1311R	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1311R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1311	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AATTCCTCCCCCGTCCTTCGA	0.677													5	15					0	0	0	0	T	133789689	C	T	133789689	3	4	27	1	0	0	0	0	1	0	0	0	7659	623	22	4	126	4	IGSF9B	11	133789689	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	9941878	133789689	1216827	474	5542											
FGF23	8074	broad.mit.edu	37	chr12	4479658	4479658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcctgtgaacaggaggccgGggccggggtcatccgggccc	5	5	17	14	3	1	1	1	1	0	0	3	2	3	2	5	7	1	0	5	7	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:4479658G>T	ENST00000237837.1	-	3	752	c.607C>A	c.(607-609)Ccg>Acg	p.P203T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	203					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CAGGAGGCCGGGGCCGGGGTC	0.706													15	24					1.15088e-07	1.40254e-07	1	0	T	4479658	G	T	4479658	3	4	27	1	0	0	0	0	1	0	0	0	5897	1232	43	4	152	4	FGF23	12	4479658	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08		4479658	129372237	475	5543											
FGF23	8074	broad.mit.edu	37	chr12	4488609	4488609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaggtggtagctgttcctgGctgtggctgtgtacaggtgg	4	12	18	7	0	0	0	0	0	0	0	1	0	1	0	1	6	2	7	1	6	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:4488609G>C	ENST00000237837.1	-	1	285	c.140C>G	c.(139-141)gCc>gGc	p.A47G		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	47					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GCTGTTCCTGGCTGTGGCTGT	0.597													12	104					0	0	0	0	C	4488609	G	C	4488609	3	2	27	1	0	0	0	0	1	0	0	0	5897	1203	42	4	627	4	FGF23	12	4488609	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	8951	4488609	129363286	476	5544											
KCNA1	3736	broad.mit.edu	37	chr12	5021088	5021088	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcatcctcatctccatcGtcatcttttgcctggagacg	6	14	8	13	2	5	1	3	0	2	1	8	2	6	1	3	2	1	0	3	2	0	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:5021088G>C	ENST00000382545.3	+	2	1651	c.544G>C	c.(544-546)Gtc>Ctc	p.V182L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	182					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.V182I(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATCTCCATCGTCATCTTTTG	0.597													25	75					0	0	0	0	C	5021088	G	C	5021088	3	2	27	1	0	0	0	0	1	0	0	0	8054	1145	40	3	546	3	KCNA1	12	5021088	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	532479	5021088	128830807	477	5545											
ZNF384	171017	broad.mit.edu	37	chr12	6787360	6787360	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacataagggtcattcaTctcgggcagccctgattcca	10	9	11	11	1	3	1	2	1	1	0	5	3	4	2	2	3	1	1	2	3	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:6787360T>G	ENST00000396795.1	-	5	1116	c.619A>C	c.(619-621)Atg>Ctg	p.M207L	ZNF384_ENST00000396799.2_Missense_Mutation_p.M207L|ZNF384_ENST00000396801.3_Missense_Mutation_p.M207L|ZNF384_ENST00000355772.4_Missense_Mutation_p.M152L|ZNF384_ENST00000319770.3_Missense_Mutation_p.M191L|ZNF384_ENST00000361959.3_Missense_Mutation_p.M207L			Q8TF68	ZN384_HUMAN	zinc finger protein 384	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGGTCATTCATCTCGGGCAGC	0.602			T	"EWSR1, TAF15 "	ALL								25	139					0	0	0	0	G	6787360	T	G	6787360	3	3	27	1	0	0	0	0	1	0	0	0	17970	1435	50	5	1138	5	ZNF384	12	6787360	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1766272	6787360	127064535	478	5546											
C12orf57	113246	broad.mit.edu	37	chr12	7053829	7053829	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaggtgggtcagacgcGggaaggcgggtcagacgcgg	8	3	23	7	5	2	2	2	0	0	2	2	4	2	4	0	8	0	0	0	8	2	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:7053829G>T	ENST00000544681.1	+	2	548	c.243G>T	c.(241-243)gcG>gcT	p.A81A	C12orf57_ENST00000229281.5_Intron|C12orf57_ENST00000542222.1_Intron|C12orf57_ENST00000537087.1_Intron|C12orf57_ENST00000540506.2_Intron			Q99622	C10_HUMAN	chromosome 12 open reading frame 57	81										kidney(1)|large_intestine(1)	2						GGTCAGACGCGGGAAGGCGGG	0.652											OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	61					0.000673444	0.000720759	1	0	T	7053829	G	T	7053829	2	4	27	1	0	0	0	0	0	0	0	1	1713	1131	39	3		3	C12orf57	12	7053829	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	266469	7053829	126798066	479	5547											
CLEC6A	93978	broad.mit.edu	37	chr12	8608728	8608728	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgcaagagcagcaaccTcaaagtacaggtgagtattt	15	9	10	7	0	1	3	1	2	0	1	1	3	1	3	1	1	5	5	1	1	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:8608728T>A	ENST00000382073.3	+	1	207	c.21T>A	c.(19-21)ccT>ccA	p.P7P		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	7					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					AGCAGCAACCTCAAAGTACAG	0.453													9	64					0	0	0	0	A	8608728	T	A	8608728	2	1	27	1	0	0	0	0	0	0	0	1	3550	1538	54	5		5	CLEC6A	12	8608728	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1554899	8608728	125243167	480	5548											
GUCY2C	2984	broad.mit.edu	37	chr12	14796620	14796620	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatggacttctgtcttactGgagtgcagatatgacattcc	9	13	9	10	0	2	2	0	1	2	1	3	4	3	4	2	2	2	1	2	2	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:14796620G>T	ENST00000261170.3	-	17	1954	c.1818C>A	c.(1816-1818)tcC>tcA	p.S606S		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	606	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTGTCTTACTGGAGTGCAGAT	0.373													15	95					0.00074312	0.0007944	1	0	T	14796620	G	T	14796620	2	4	27	1	0	0	0	0	0	0	0	1	6946	1335	47	4		4	GUCY2C	12	14796620	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	6187892	14796620	119055275	481	5549											
SLCO1A2	6579	broad.mit.edu	37	chr12	21467549	21467549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccataaccacacatccaatgCcaatcattataggtctatgc	14	10	4	13	0	2	0	1	0	1	0	3	0	3	0	4	1	3	0	4	1	6	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:21467549C>G	ENST00000307378.6	-	5	989	c.269G>C	c.(268-270)gGc>gCc	p.G90A	SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.G88A|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G90A|SLCO1A2_ENST00000537524.1_Intron	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	90					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ACATCCAATGCCAATCATTAT	0.338													9	67					0	0	0	0	G	21467549	C	G	21467549	3	3	27	1	0	0	0	0	1	0	0	0	14810	739	26	4	1791	4	SLCO1A2	12	21467549	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	6670929	21467549	112384346	482	5550											
ABCC9	10060	broad.mit.edu	37	chr12	22061099	22061099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacagctgcaccgaccaatGcacttgatccaagtaaatta	14	9	7	11	1	0	2	0	2	0	0	1	3	1	2	3	0	3	4	3	0	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:22061099G>T	ENST00000261200.4	-	9	1366	c.1367C>A	c.(1366-1368)gCa>gAa	p.A456E	ABCC9_ENST00000345162.2_Missense_Mutation_p.A456E|ABCC9_ENST00000261201.4_Missense_Mutation_p.A456E	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	456	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACCGACCAATGCACTTGATCC	0.423													5	32					1.024e-07	1.26137e-07	1	0	T	22061099	G	T	22061099	3	4	27	1	0	0	0	0	1	0	0	0	59	1319	46	4	3544	4	ABCC9	12	22061099	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	593550	22061099	111790796	483	5551											
ABCC9	10060	broad.mit.edu	37	chr12	22063220	22063220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gataagttagacgtagagagCctaaggattttattataaat	16	13	9	3	1	0	2	0	0	0	2	0	5	0	3	1	1	1	2	1	1	8	8			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:22063220C>G	ENST00000261200.4	-	8	1190	c.1191G>C	c.(1189-1191)agG>agC	p.R397S	ABCC9_ENST00000345162.2_Missense_Mutation_p.R397S|ABCC9_ENST00000261201.4_Missense_Mutation_p.R397S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	397	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACGTAGAGAGCCTAAGGATTT	0.343													15	48					0	0	0	0	G	22063220	C	G	22063220	3	3	27	1	0	0	0	0	1	0	0	0	59	738	26	4	3724	4	ABCC9	12	22063220	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2121	22063220	111788675	484	5552											
ABCC9	10060	broad.mit.edu	37	chr12	22068766	22068766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacagcaaattcacaaatgGttgaagaaatctcactccca	16	9	6	10	0	2	3	2	2	1	1	4	3	3	3	1	1	1	2	1	1	4	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:22068766G>T	ENST00000261200.4	-	5	651	c.652C>A	c.(652-654)Cca>Aca	p.P218T	ABCC9_ENST00000345162.2_Missense_Mutation_p.P218T|ABCC9_ENST00000261201.4_Missense_Mutation_p.P218T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	218					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCACAAATGGTTGAAGAAAT	0.378													14	35					2.32078e-09	2.97921e-09	1	0	T	22068766	G	T	22068766	3	4	27	1	0	0	0	0	1	0	0	0	59	1261	44	4	4275	4	ABCC9	12	22068766	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5546	22068766	111783129	485	5553											
ST8SIA1	6489	broad.mit.edu	37	chr12	22440119	22440119	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagttgaattgtcaatggtGaatgagtataaaaactcccc	15	12	8	6	0	1	3	1	3	0	0	2	3	2	3	2	1	1	2	2	1	8	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:22440119G>T	ENST00000539510.1	-	2	309	c.26C>A	c.(25-27)tCa>tAa	p.S9*	ST8SIA1_ENST00000396037.4_Missense_Mutation_p.F115L			Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	0					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TGTCAATGGTGAATGAGTATA	0.423													10	43					2.17888e-05	2.45258e-05	1	0	T	22440119	G	T	22440119	4	4	27	1	0	0	0	0	0	1	0	0	15321	1281	45	2	741	2	ST8SIA1	12	22440119	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	371353	22440119	111411776	486	5554											
C12orf71	728858	broad.mit.edu	37	chr12	27235198	27235198	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttcatcctgaatttggtcTtgtctcttcatgcgtctccc	4	17	8	12	1	5	1	2	1	3	0	8	1	6	1	2	2	1	1	2	2	1	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:27235198T>A	ENST00000429849.2	-	1	249	c.219A>T	c.(217-219)caA>caT	p.Q73H		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	73										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GAATTTGGTCTTGTCTCTTCA	0.517													6	27					0	0	0	0	A	27235198	T	A	27235198	3	1	27	1	0	0	0	0	1	0	0	0	1724	1606	56	5	598	5	C12orf71	12	27235198	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	4795079	27235198	106616697	487	5555											
ERGIC2	51290	broad.mit.edu	37	chr12	29509320	29509320	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaagaacatacttgccCactgttatgtgaaaattccc	14	11	7	9	0	0	3	0	2	0	1	1	3	1	3	2	0	3	1	2	0	7	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:29509320C>A	ENST00000360150.4	-	8	642	c.567G>T	c.(565-567)gtG>gtT	p.V189V		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	189					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	CATACTTGCCCACTGTTATGT	0.388													16	70					8.34094e-07	9.86237e-07	1	0	A	29509320	C	A	29509320	2	1	27	1	0	0	0	0	0	0	0	1	5262	581	21	4		4	ERGIC2	12	29509320	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2274122	29509320	104342575	488	5556											
TMTC1	83857	broad.mit.edu	37	chr12	29670487	29670487	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaatatctcagctttgTgtgccacctgcagggcgctg	7	11	12	11	1	1	1	1	1	1	0	2	1	1	1	2	1	3	3	2	1	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:29670487T>A	ENST00000256062.5	-	14	2191	c.1718A>T	c.(1717-1719)cAc>cTc	p.H573L	TMTC1_ENST00000552618.1_Missense_Mutation_p.H705L|TMTC1_ENST00000551659.1_Missense_Mutation_p.H743L|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Missense_Mutation_p.H681L	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	681						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CTCAGCTTTGTGTGCCACCTG	0.453													17	79					0	0	0	0	A	29670487	T	A	29670487	3	1	27	1	0	0	0	0	1	0	0	0	16354	1696	59	5	626	5	TMTC1	12	29670487	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	161167	29670487	104181408	489	5557											
IPO8	10526	broad.mit.edu	37	chr12	30802157	30802157	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcttctcctgcatctcCacatagtacctgcagtaatt	9	14	5	13	0	3	0	0	0	3	0	5	0	3	0	3	0	4	5	3	0	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:30802157C>A	ENST00000256079.4	-	20	2520	c.2182G>T	c.(2182-2184)Gga>Tga	p.G728*	IPO8_ENST00000544829.1_Nonsense_Mutation_p.G523*	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	728					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTGCATCTCCACATAGTACC	0.418													17	49					1.67942e-08	2.11431e-08	1	0	A	30802157	C	A	30802157	4	1	27	1	0	0	0	0	0	1	0	0	7851	603	21	4	955	4	IPO8	12	30802157	Nonsense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1131670	30802157	103049738	490	5558											
IPO8	10526	broad.mit.edu	37	chr12	30827001	30827001	+	Frame_Shift_Del	DEL	T	T	-																															ttttgtgacatttcctgggcTtccatatcttaaaatacaaa																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:30827001delT	ENST00000256079.4	-	8	1170	c.832delA	c.(832-834)gcfs	p.S278fs	IPO8_ENST00000544829.1_Frame_Shift_Del_p.S73fs	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	278					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTCCTGGGCTTCCATATCTT	0.303													13	31	---	---	---	---					-	30827001	T	-	30827001	7	5	27	1	0	1	0	1	0	0	0	0	7851	1609	56	0	2353	0	IPO8	12	30827001	Frame_Shift_Del	DEL	T	TCGA-BA-A6DA-01A-31D-A31L-08	24844	30827001	103024894	491	5559											
LRRK2	120892	broad.mit.edu	37	chr12	40631906	40631906	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatgtgctgtttgagagagGtattttaaaatgtcaaattc	13	15	9	4	0	1	2	1	1	0	1	2	3	1	2	0	1	1	3	0	1	4	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:40631906G>T	ENST00000298910.7	+	5	629		c.e5+1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTGAGAGAGGTATTTTAAAA	0.313													5	40					1.23904e-05	1.40332e-05	1	0	T	40631906	G	T	40631906	5	4	27	1	0	0	0	0	0	0	1	0	9097	1275	44	4	590	4	LRRK2	12	40631906	Splice_Site	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	9804905	40631906	93219989	492	5560											
PDZRN4	29951	broad.mit.edu	37	chr12	41967120	41967120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaaacatcccagcacacGcccggcattatcaaagctac	14	6	6	15	2	1	0	1	0	0	0	2	0	2	0	2	1	5	4	2	1	4	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:41967120G>C	ENST00000298919.7	+	10	2147	c.1759G>C	c.(1759-1761)Gcc>Ccc	p.A587P	PDZRN4_ENST00000539469.2_Missense_Mutation_p.A589P|PDZRN4_ENST00000402685.2_Missense_Mutation_p.A847P			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	847							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CCCAGCACACGCCCGGCATTA	0.483													39	109					0	0	0	0	C	41967120	G	C	41967120	3	2	27	1	0	0	0	0	1	0	0	0	11781	1087	38	3	2650	3	PDZRN4	12	41967120	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1335214	41967120	91884775	493	5561											
ARID2	196528	broad.mit.edu	37	chr12	46244778	46244778	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagctcttccagctggtCagacagttcagctaactgga	10	9	10	12	0	3	1	2	0	1	1	4	2	4	2	1	2	5	5	1	2	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:46244778C>T	ENST00000334344.6	+	15	3044	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q809*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q568*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	958	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.T959fs*9(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCCAGCTGGTCAGACAGTTCA	0.473			"N, S, F"		hepatocellular carcinoma								25	103					0	0	0	0	T	46244778	C	T	46244778	4	4	27	1	0	0	0	0	0	1	0	0	917	827	29	2	2930	2	ARID2	12	46244778	Nonsense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	4277658	46244778	87607117	494	5562											
KRT81	3887	broad.mit.edu	37	chr12	52685169	52685169	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacggtagggggcggcggtGatgcagcagcggccgggccg	5	3	21	12	6	0	1	0	1	0	0	0	1	0	1	3	7	3	3	3	7	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:52685169G>A	ENST00000327741.5	-	1	149	c.81C>T	c.(79-81)atC>atT	p.I27I	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	27	Head.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCGGCGGTGATGCAGCAGC	0.711													9	16					0	0	0	0	A	52685169	G	A	52685169	2	1	27	1	0	0	0	0	0	0	0	1	8547	1280	45	2		2	KRT81	12	52685169	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	6440391	52685169	81166726	495	5563											
KRT75	9119	broad.mit.edu	37	chr12	52825337	52825337	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactcttactgcatcaaagActgagtggatgaagttgatc	13	11	10	7	0	2	5	1	3	1	2	3	6	2	6	0	1	2	2	0	1	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:52825337A>G	ENST00000252245.5	-	4	1080	c.860T>C	c.(859-861)gTc>gCc	p.V287A		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	287	Coil 1B.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGCATCAAAGACTGAGTGGAT	0.478													19	65					0	0	0	0	G	52825337	A	G	52825337	3	3	27	1	0	0	0	0	1	0	0	0	8540	275	10	5	819	5	KRT75	12	52825337	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	140168	52825337	81026558	496	5564											
KRT71	112802	broad.mit.edu	37	chr12	52938504	52938504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaagccatagacactgcCgccactggtgctgctgatga	9	7	12	13	2	0	3	0	2	0	1	0	4	0	4	4	2	4	2	4	2	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:52938504C>T	ENST00000267119.5	-	9	1453	c.1384G>A	c.(1384-1386)Ggc>Agc	p.G462S		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	462	Tail.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TAGACACTGCCGCCACTGGTG	0.642													8	27					0	0	0	0	T	52938504	C	T	52938504	3	4	27	1	0	0	0	0	1	0	0	0	8536	652	23	1	191	1	KRT71	12	52938504	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	113167	52938504	80913391	497	5565											
NCKAP1L	3071	broad.mit.edu	37	chr12	54902239	54902239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttacacctcagtcattttaCttctgtcacggattgaagat	10	15	6	10	1	4	2	3	1	1	1	4	3	4	3	1	1	2	0	1	1	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:54902239C>T	ENST00000293373.6	+	5	509	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L94F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	144					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGTCATTTTACTTCTGTCACG	0.433													49	149					0	0	0	0	T	54902239	C	T	54902239	3	4	27	1	0	0	0	0	1	0	0	0	10292	565	20	4	448	4	NCKAP1L	12	54902239	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1963735	54902239	78949656	498	5566											
OR10P1	121130	broad.mit.edu	37	chr12	56031284	56031284	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatctccgtgatgacagcCaccatagtcttcattatgat	11	12	8	10	1	3	4	1	3	2	1	4	5	3	4	3	0	1	0	3	0	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:56031284C>A	ENST00000309675.2	+	1	641	c.609C>A	c.(607-609)gcC>gcA	p.A203A		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TGATGACAGCCACCATAGTCT	0.567													23	85					2.89027e-11	3.90207e-11	1	0	A	56031284	C	A	56031284	2	1	27	1	0	0	0	0	0	0	0	1	10986	581	21	4		4	OR10P1	12	56031284	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1129045	56031284	77820611	499	5567											
SDR9C7	121214	broad.mit.edu	37	chr12	57323207	57323207	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctctccgtagctgtcccGggtctcctgaggcagcctct	4	11	10	16	2	3	1	0	1	3	0	7	1	5	1	5	2	2	3	5	2	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:57323207G>T	ENST00000293502.1	-	3	834	c.691C>A	c.(691-693)Cgg>Agg	p.R231R		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	231						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TAGCTGTCCCGGGTCTCCTGA	0.582													29	78					1.32181e-22	2.15738e-22	1	0	T	57323207	G	T	57323207	2	4	27	1	0	0	0	0	0	0	0	1	14061	1115	39	3		3	SDR9C7	12	57323207	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1291923	57323207	76528688	500	5568											
C12orf56	115749	broad.mit.edu	37	chr12	64784226	64784226	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagagttggacaccacGatgcatggctcgtaggcgcg	8	9	13	11	4	1	1	1	0	1	1	3	3	1	2	1	3	1	4	1	3	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:64784226G>T	ENST00000543942.2	-	1	746	c.120C>A	c.(118-120)atC>atA	p.I40I	C12orf56_ENST00000333722.5_Silent_p.I40I|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	40										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TGGACACCACGATGCATGGCT	0.647													13	78					1.36491e-13	1.96771e-13	1	0	T	64784226	G	T	64784226	2	4	27	1	0	0	0	0	0	0	0	1	1712	1048	37	3		3	C12orf56	12	64784226	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	7461019	64784226	69067669	501	5569											
LRRC10	376132	broad.mit.edu	37	chr12	70004253	70004253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgatccacagggtcctgagGttctggagcaggctcagctc	7	9	13	12	1	2	1	1	1	1	0	6	3	4	2	2	4	2	4	2	4	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:70004253G>T	ENST00000361484.3	-	1	689	c.366C>A	c.(364-366)aaC>aaA	p.N122K		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	122						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGGTCCTGAGGTTCTGGAGCA	0.602													16	54					5.01169e-05	5.57261e-05	1	0	T	70004253	G	T	70004253	3	4	27	1	0	0	0	0	1	0	0	0	9031	1252	44	4	471	4	LRRC10	12	70004253	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5220027	70004253	63847642	502	5570											
BEST3	144453	broad.mit.edu	37	chr12	70065252	70065252	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagggtatgcagtagtcAgcagctgccaatgtgtatgg	11	10	14	6	0	1	1	1	1	0	0	1	1	1	1	1	2	4	6	1	2	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:70065252A>C	ENST00000330891.5	-	9	1282	c.1056T>G	c.(1054-1056)gcT>gcG	p.A352A	BEST3_ENST00000331471.4_Silent_p.A352A|BEST3_ENST00000476098.1_Silent_p.A139A|BEST3_ENST00000553096.1_Silent_p.A246A|BEST3_ENST00000488961.1_Silent_p.A139A	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	352						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCAGTAGTCAGCAGCTGCCA	0.448													17	48					0	0	0	0	C	70065252	A	C	70065252	2	2	27	1	0	0	0	0	0	0	0	1	1410	175	7	5		5	BEST3	12	70065252	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	60999	70065252	63786643	503	5571											
RAB3IP	117177	broad.mit.edu	37	chr12	70149189	70149189	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttatgatgaggcttttgctAtggctaatgatcccttggaa	9	15	10	7	0	0	3	0	3	0	0	1	4	1	4	1	3	1	3	1	3	4	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:70149189A>G	ENST00000550536.1	+	2	506	c.49A>G	c.(49-51)Atg>Gtg	p.M17V	RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000247833.7_Start_Codon_SNP_p.M1V|RAB3IP_ENST00000483530.2_Start_Codon_SNP_p.M1V|RAB3IP_ENST00000362025.5_Missense_Mutation_p.M17V|RAB3IP_ENST00000378815.6_Start_Codon_SNP_p.M1V	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	17					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GGCTTTTGCTATGGCTAATGA	0.338													7	43					0	0	0	0	G	70149189	A	G	70149189	3	3	27	1	0	0	0	0	1	0	0	0	13020	449	16	5	55	5	RAB3IP	12	70149189	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	83937	70149189	63702706	504	5572											
RAB3IP	117177	broad.mit.edu	37	chr12	70150373	70150373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtctgtctcgtttacgaaGcccatctgttttggaagtta	8	16	9	8	2	3	0	0	0	3	0	4	2	3	1	1	1	2	3	1	1	5	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:70150373G>T	ENST00000550536.1	+	3	945	c.488G>T	c.(487-489)aGc>aTc	p.S163I	RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000247833.7_Missense_Mutation_p.S147I|RAB3IP_ENST00000483530.2_Missense_Mutation_p.S147I|RAB3IP_ENST00000362025.5_Missense_Mutation_p.S163I|RAB3IP_ENST00000378815.6_Missense_Mutation_p.S147I	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	163					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CGTTTACGAAGCCCATCTGTT	0.398													25	104					9.57634e-11	1.27221e-10	1	0	T	70150373	G	T	70150373	3	4	27	1	0	0	0	0	1	0	0	0	13020	971	34	4	498	4	RAB3IP	12	70150373	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1184	70150373	63701522	505	5573											
TPH2	121278	broad.mit.edu	37	chr12	72372829	72372829	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgttccactgtacccagtaCatccggcatggctcagatcc	8	10	9	14	1	1	1	1	0	0	1	4	1	4	1	4	2	2	5	4	2	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:72372829C>T	ENST00000333850.3	+	7	1044	c.903C>T	c.(901-903)taC>taT	p.Y301Y		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	301					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GTACCCAGTACATCCGGCATG	0.542													42	139					0	0	0	0	T	72372829	C	T	72372829	2	4	27	1	0	0	0	0	0	0	0	1	16497	489	17	4		4	TPH2	12	72372829	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2222456	72372829	61479066	506	5574											
NAV3	89795	broad.mit.edu	37	chr12	78444905	78444905	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatccttgggaaaagtctcAggactgatgacatcaacagt	14	10	9	8	0	2	2	2	2	1	0	4	4	3	4	1	2	1	0	1	2	4	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:78444905A>G	ENST00000397909.2	+	11	2667	c.2494A>G	c.(2494-2496)Agg>Ggg	p.R832G	NAV3_ENST00000536525.2_Missense_Mutation_p.R832G|NAV3_ENST00000228327.6_Missense_Mutation_p.R832G|NAV3_ENST00000266692.7_Missense_Mutation_p.R832G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	832						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAAAAGTCTCAGGACTGATGA	0.448										HNSCC(70;0.22)			18	55					0	0	0	0	G	78444905	A	G	78444905	3	3	27	1	0	0	0	0	1	0	0	0	10255	179	7	5	2536	5	NAV3	12	78444905	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	6072076	78444905	55406990	507	5575											
ACSS3	79611	broad.mit.edu	37	chr12	81545826	81545826	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggttgttggacattcctAtatctgctatggacctcttc	6	16	9	10	0	2	0	0	0	2	0	4	2	3	2	2	3	1	3	2	3	3	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:81545826A>G	ENST00000548058.1	+	7	1959	c.1049A>G	c.(1048-1050)tAt>tGt	p.Y350C	ACSS3_ENST00000548324.1_Missense_Mutation_p.Y32C|ACSS3_ENST00000261206.3_Missense_Mutation_p.Y349C			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	350						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGACATTCCTATATCTGCTAT	0.299													14	69					0	0	0	0	G	81545826	A	G	81545826	3	3	27	1	0	0	0	0	1	0	0	0	190	449	16	5	1075	5	ACSS3	12	81545826	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	3100921	81545826	52306069	508	5576											
PPFIA2	8499	broad.mit.edu	37	chr12	81839411	81839411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacttcactggatactcctGagggagactgggcttgccgt	8	10	12	11	1	1	2	1	1	0	1	2	4	2	3	2	3	3	1	2	3	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:81839411G>A	ENST00000550584.2	-	5	789	c.494C>T	c.(493-495)tCa>tTa	p.S165L	PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S165L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S147L|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S91L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S165L|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S12L|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S91L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S147L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S165L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	91										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGATACTCCTGAGGGAGACTG	0.433													9	34					0	0	0	0	A	81839411	G	A	81839411	3	1	27	1	0	0	0	0	1	0	0	0	12381	1294	45	2	3387	2	PPFIA2	12	81839411	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	293585	81839411	52012484	509	5577											
CEP290	80184	broad.mit.edu	37	chr12	88478512	88478512	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgcctagctcagctaTgagcttttctctttctgcag	5	18	7	11	0	4	1	1	1	3	0	5	1	4	1	1	0	5	4	1	0	2	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:88478512T>C	ENST00000552810.1	-	35	4898	c.4555A>G	c.(4555-4557)Ata>Gta	p.I1519V	CEP290_ENST00000397838.3_Missense_Mutation_p.I579V|CEP290_ENST00000547691.2_Missense_Mutation_p.I579V|CEP290_ENST00000309041.7_Missense_Mutation_p.I1521V	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1519					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGCTCAGCTATGAGCTTTTCT	0.388													7	47					0	0	0	0	C	88478512	T	C	88478512	3	2	27	1	0	0	0	0	1	0	0	0	3282	1464	51	5	2964	5	CEP290	12	88478512	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	6639101	88478512	45373383	510	5578											
PLXNC1	10154	broad.mit.edu	37	chr12	94618070	94618070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcagacagattcaactttaCcaactgctcatcattaaaag	16	11	4	10	0	4	2	4	0	0	2	4	2	4	2	1	0	4	1	1	0	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:94618070C>A	ENST00000258526.4	+	7	2018	c.1769C>A	c.(1768-1770)aCc>aAc	p.T590N		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	590					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCAACTTTACCAACTGCTCA	0.353													16	81					5.3912e-06	6.1904e-06	1	0	A	94618070	C	A	94618070	3	1	27	1	0	0	0	0	1	0	0	0	12198	507	18	4	1795	4	PLXNC1	12	94618070	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	6139558	94618070	39233825	511	5579											
CCDC41	51134	broad.mit.edu	37	chr12	94761893	94761893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttggcagcttgtactttaCgtattaattcacgatccttt	8	18	6	9	2	1	0	1	0	0	0	2	1	2	0	1	1	3	4	1	1	4	9			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:94761893C>G	ENST00000397809.5	-	10	1682	c.1133G>C	c.(1132-1134)cGt>cCt	p.R378P	CCDC41_ENST00000397807.2_Missense_Mutation_p.R345P|CCDC41_ENST00000339839.5_Missense_Mutation_p.R378P	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	370										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTGTACTTTACGTATTAATTC	0.333													7	21					0	0	0	0	G	94761893	C	G	94761893	3	3	27	1	0	0	0	0	1	0	0	0	2839	536	19	3	1004	3	CCDC41	12	94761893	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	143823	94761893	39090002	512	5580											
SLC25A3	5250	broad.mit.edu	37	chr12	98995169	98995169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggaagggactgtttgccCgtatcatcatgattggtacc	9	13	11	8	1	2	1	2	1	0	0	2	3	2	3	2	3	2	3	2	3	4	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:98995169C>T	ENST00000188376.5	+	7	1303	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	SLC25A3_ENST00000552981.1_Missense_Mutation_p.R317C|SLC25A3_ENST00000551917.1_Missense_Mutation_p.R318C|SLC25A3_ENST00000549338.1_Missense_Mutation_p.R317C|SLC25A3_ENST00000548847.1_Missense_Mutation_p.R280C|SLC25A3_ENST00000228318.3_Missense_Mutation_p.R318C|SLC25A3_ENST00000401722.3_Missense_Mutation_p.R317C	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	318					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		ACTGTTTGCCCGTATCATCAT	0.433													14	74					0	0	0	0	T	98995169	C	T	98995169	3	4	27	1	0	0	0	0	1	0	0	0	14581	652	23	1	1104	1	SLC25A3	12	98995169	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	4233276	98995169	34856726	513	5581											
GAS2L3	283431	broad.mit.edu	37	chr12	101012318	101012318	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgggcctgaagattccAtcagcattccaaaatcatgc	11	11	7	12	0	3	2	2	1	1	1	5	2	5	2	3	1	2	1	3	1	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:101012318A>G	ENST00000537247.1	+	8	1243	c.289A>G	c.(289-291)Atc>Gtc	p.I97V	GAS2L3_ENST00000539410.1_Missense_Mutation_p.I201V|GAS2L3_ENST00000266754.5_Missense_Mutation_p.I201V|GAS2L3_ENST00000547754.1_Missense_Mutation_p.I201V			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	201	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAAGATTCCATCAGCATTCC	0.408													6	45					0	0	0	0	G	101012318	A	G	101012318	3	3	27	1	0	0	0	0	1	0	0	0	6297	217	8	5	623	5	GAS2L3	12	101012318	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	2017149	101012318	32839577	514	5582											
GAS2L3	283431	broad.mit.edu	37	chr12	101017443	101017443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaatattacagtttgccaCattagaacaaaaaattttag	17	13	5	6	1	0	1	0	0	0	1	1	2	0	1	1	0	3	1	1	0	9	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:101017443C>T	ENST00000537247.1	+	10	1502	c.548C>T	c.(547-549)aCa>aTa	p.T183I	GAS2L3_ENST00000539410.1_Missense_Mutation_p.T287I|GAS2L3_ENST00000266754.5_Missense_Mutation_p.T287I|GAS2L3_ENST00000547754.1_Missense_Mutation_p.T287I			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	287					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGTTTGCCACATTAGAACAA	0.403													14	66					0	0	0	0	T	101017443	C	T	101017443	3	4	27	1	0	0	0	0	1	0	0	0	6297	478	17	4	890	4	GAS2L3	12	101017443	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	5125	101017443	32834452	515	5583											
CUX2	23316	broad.mit.edu	37	chr12	111744752	111744752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaacttcactctgtgctcgGgccctcggctggaggccgcg	4	9	14	14	4	2	1	1	1	1	0	4	2	2	2	2	4	2	2	2	4	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:111744752G>T	ENST00000261726.6	+	11	1040	c.886G>T	c.(886-888)Ggc>Tgc	p.G296C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	296						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCTGTGCTCGGGCCCTCGGCT	0.647													26	96					2.48779e-11	3.37366e-11	1	0	T	111744752	G	T	111744752	3	4	27	1	0	0	0	0	1	0	0	0	4097	1232	43	4	928	4	CUX2	12	111744752	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	10727309	111744752	22107143	516	5584											
CUX2	23316	broad.mit.edu	37	chr12	111744815	111744815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcggctgctgaaggacGtgcagcacctccagagctca	8	7	12	14	2	1	2	1	1	0	1	3	3	3	3	3	2	5	5	3	2	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:111744815G>A	ENST00000261726.6	+	11	1103	c.949G>A	c.(949-951)Gtg>Atg	p.V317M		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	317						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTGAAGGACGTGCAGCACCT	0.647													19	64					0	0	0	0	A	111744815	G	A	111744815	3	1	27	1	0	0	0	0	1	0	0	0	4097	1145	40	1	991	1	CUX2	12	111744815	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	63	111744815	22107080	517	5585											
DNAH10	196385	broad.mit.edu	37	chr12	124293437	124293437	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagatcatccttcatccCaacacaaatgagatcgacaa	15	8	5	13	1	2	2	2	2	0	2	5	5	4	2	3	0	1	0	3	0	3	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:124293437C>T	ENST00000409039.3	+	18	2752	c.2727C>T	c.(2725-2727)ccC>ccT	p.P909P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	909	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCTTCATCCCAACACAAATG	0.483													66	213					0	0	0	0	T	124293437	C	T	124293437	2	4	27	1	0	0	0	0	0	0	0	1	4635	581	21	4		4	DNAH10	12	124293437	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	12548622	124293437	9558458	518	5586											
TMEM132D	121256	broad.mit.edu	37	chr12	129566531	129566531	+	Frame_Shift_Del	DEL	G	G	-																															gtactgcagggtgcagccgcGgcccctccgctcatcatcct																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:129566531delG	ENST00000422113.2	-	7	2022	c.1696delC	c.(1696-1698)gcfs	p.R566fs	TMEM132D_ENST00000389441.4_Frame_Shift_Del_p.R104fs	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	566						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTGCAGCCGCGGCCCCTCCGC	0.642													34	105	---	---	---	---					-	129566531	G	-	129566531	7	5	27	1	0	1	0	1	0	0	0	0	16141	1116	39	0	1615	0	TMEM132D	12	129566531	Frame_Shift_Del	DEL	G	TCGA-BA-A6DA-01A-31D-A31L-08	5273094	129566531	4285364	519	5587											
TMEM132D	121256	broad.mit.edu	37	chr12	129694087	129694087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	taatcacgtcttcatcagacGatctacactccacagactcc	12	10	4	15	2	5	2	3	0	2	2	7	3	7	2	2	0	1	0	2	0	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:129694087G>C	ENST00000422113.2	-	5	1747	c.1421C>G	c.(1420-1422)tCg>tGg	p.S474W	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	474						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCATCAGACGATCTACACTC	0.592													10	35					0	0	0	0	C	129694087	G	C	129694087	3	2	27	1	0	0	0	0	1	0	0	0	16141	1059	37	3	1898	3	TMEM132D	12	129694087	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	127556	129694087	4157808	520	5588											
RAN	5901	broad.mit.edu	37	chr12	131359090	131359090	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccacaaatgtttcttcaGcccagtgtgccatcataatg	10	13	6	12	0	3	0	2	0	1	0	4	0	4	0	3	0	2	1	3	0	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:131359090G>A	ENST00000543796.1	+	5	505		c.e5-1		RAN_ENST00000541630.1_Splice_Site|RAN_ENST00000392369.2_Splice_Site|RAN_ENST00000392367.3_Splice_Site|RAN_ENST00000254675.3_Splice_Site			P62826	RAN_HUMAN	RAN, member RAS oncogene family						androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		TGTTTCTTCAGCCCAGTGTGC	0.403													10	29					0	0	0	0	A	131359090	G	A	131359090	5	1	27	1	0	0	0	0	0	0	1	0	13106	985	34	4	261	4	RAN	12	131359090	Splice_Site	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1665003	131359090	2492805	521	5589											
HSPH1	10808	broad.mit.edu	37	chr13	31711637	31711637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtttcggttgtgttacaaCgggttcacatgtgttgttca	6	17	12	6	2	2	0	2	0	0	0	3	0	2	0	0	3	2	6	0	3	2	6	rs140348808		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:31711637C>A	ENST00000320027.5	-	18	2739	c.2395G>T	c.(2395-2397)Gtt>Ttt	p.V799F	HSPH1_ENST00000445273.2_Missense_Mutation_p.V801F|HSPH1_ENST00000429785.2_Missense_Mutation_p.V618F|HSPH1_ENST00000380406.5_Missense_Mutation_p.V758F|HSPH1_ENST00000380405.4_Missense_Mutation_p.V755F	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	799					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGTGTTACAACGGGTTCACAT	0.348													10	24					1.76689e-08	2.20922e-08	1	0	A	31711637	C	A	31711637	3	1	27	1	0	0	0	0	1	0	0	0	7484	536	19	3	185	3	HSPH1	13	31711637	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08		31711637	83458241	522	5590											
TRPC4	7223	broad.mit.edu	37	chr13	38211053	38211053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaagtatcacaatcttgtgGtcacgtaatcttcgtgggtg	9	14	10	8	2	5	0	3	0	2	0	6	0	5	0	0	2	0	2	0	2	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:38211053G>T	ENST00000379705.3	-	11	3778	c.2921C>A	c.(2920-2922)aCc>aAc	p.T974N	TRPC4_ENST00000358477.2_Missense_Mutation_p.T890N|TRPC4_ENST00000447043.1_Missense_Mutation_p.T833N|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.T825N|TRPC4_ENST00000379681.3_Missense_Mutation_p.T979N|TRPC4_ENST00000338947.5_Missense_Mutation_p.T801N|TRPC4_ENST00000355779.2_Missense_Mutation_p.T833N|TRPC4_ENST00000379679.1_Missense_Mutation_p.T801N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	974	Binds to ITPR1, ITPR2 and ITPR3.				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)		CAATCTTGTGGTCACGTAATC	0.403													10	28					1.76689e-08	2.20922e-08	1	0	T	38211053	G	T	38211053	3	4	27	1	0	0	0	0	1	0	0	0	16675	1261	44	4	16	4	TRPC4	13	38211053	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	6499416	38211053	76958825	523	5591											
NAA16	79612	broad.mit.edu	37	chr13	41885710	41885710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagagcaacctcttcaaaCgcatcttggtgagtggccgt	10	9	12	10	2	3	2	1	1	2	1	3	3	3	2	2	3	3	2	2	3	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:41885710C>T	ENST00000379406.3	+	1	370	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	NAA16_ENST00000379367.3_Missense_Mutation_p.R16C|NAA16_ENST00000403412.3_Missense_Mutation_p.R16C	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	16					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CCTCTTCAAACGCATCTTGGT	0.736													6	12					0	0	0	0	T	41885710	C	T	41885710	3	4	27	1	0	0	0	0	1	0	0	0	10189	536	19	1	48	1	NAA16	13	41885710	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3674657	41885710	73284168	524	5592											
ENOX1	55068	broad.mit.edu	37	chr13	43918804	43918804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgcaccatggaatagaaCtggtttgcagagcgccgatt	11	9	12	9	2	0	2	0	0	0	2	0	5	0	3	2	2	4	3	2	2	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:43918804C>A	ENST00000261488.6	-	9	1483	c.906G>T	c.(904-906)caG>caT	p.Q302H	ENOX1_ENST00000540032.1_Missense_Mutation_p.Q115H|ENOX1_ENST00000412891.1_Missense_Mutation_p.Q302H	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	302					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TGGAATAGAACTGGTTTGCAG	0.493													19	45					3.51602e-12	4.87654e-12	1	0	A	43918804	C	A	43918804	3	1	27	1	0	0	0	0	1	0	0	0	5164	564	20	4	1061	4	ENOX1	13	43918804	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2033094	43918804	71251074	525	5593											
CAB39L	81617	broad.mit.edu	37	chr13	49924927	49924927	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatatcaaatgttgacaactCcacgtacttaaagaaatctc	17	11	4	9	1	2	2	1	1	1	1	4	2	3	2	1	0	2	2	1	0	8	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:49924927C>A	ENST00000355854.4	-	5	1014	c.517G>T	c.(517-519)Gag>Tag	p.E173*	CAB39L_ENST00000410043.1_Nonsense_Mutation_p.E173*|CAB39L_ENST00000409308.1_Nonsense_Mutation_p.E173*|CAB39L_ENST00000409130.1_Nonsense_Mutation_p.E29*|CAB39L_ENST00000347776.5_Nonsense_Mutation_p.E173*	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	173					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		GTTGACAACTCCACGTACTTA	0.373													27	51					1.74197e-06	2.04648e-06	1	0	A	49924927	C	A	49924927	4	1	27	1	0	0	0	0	0	1	0	0	2551	864	30	2	516	2	CAB39L	13	49924927	Nonsense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	6006123	49924927	65244951	526	5594											
PCDH8	5100	broad.mit.edu	37	chr13	53420407	53420407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctccgggcttcctgcactgGcaggcgcagccggcccacgc	4	5	14	18	4	0	0	0	0	0	0	2	0	2	0	4	4	2	5	4	4	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:53420407G>A	ENST00000377942.3	-	1	2368	c.2165C>T	c.(2164-2166)gCc>gTc	p.A722V	PCDH8_ENST00000338862.4_Missense_Mutation_p.A722V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	722	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCCTGCACTGGCAGGCGCAGC	0.701													6	16					0	0	0	0	A	53420407	G	A	53420407	3	1	27	1	0	0	0	0	1	0	0	0	11588	1203	42	4	1059	4	PCDH8	13	53420407	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3495480	53420407	61749471	527	5595											
NALCN	259232	broad.mit.edu	37	chr13	102029073	102029073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctttgtgtcatttacaaCacagtgataagtaaatgttc	12	15	8	6	0	1	1	1	1	0	0	2	1	1	1	0	1	2	3	0	1	5	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:102029073C>G	ENST00000251127.6	-	6	703	c.622G>C	c.(622-624)Gtt>Ctt	p.V208L	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.V208L|NALCN_ENST00000376200.5_Missense_Mutation_p.V208L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	208						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCATTTACAACACAGTGATAA	0.303													34	73					0	0	0	0	G	102029073	C	G	102029073	3	3	27	1	0	0	0	0	1	0	0	0	10218	478	17	4	4750	4	NALCN	13	102029073	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	48608666	102029073	13140805	528	5596											
ITGBL1	9358	broad.mit.edu	37	chr13	102250524	102250524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcatggacagtgtaattgcgGaagatgtgactgcaaagcag	13	9	13	6	1	1	2	1	1	0	1	1	4	1	4	0	2	3	3	0	2	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:102250524G>A	ENST00000376180.3	+	7	1109	c.890G>A	c.(889-891)gGa>gAa	p.G297E	ITGBL1_ENST00000545560.2_Missense_Mutation_p.G156E|ITGBL1_ENST00000376162.3_Missense_Mutation_p.G204E	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	297	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTAATTGCGGAAGATGTGAC	0.448													7	56					0	0	0	0	A	102250524	G	A	102250524	3	1	27	1	0	0	0	0	1	0	0	0	7955	1174	41	2	916	2	ITGBL1	13	102250524	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	221451	102250524	12919354	529	5597											
ERCC5	2073	broad.mit.edu	37	chr13	103527879	103527879	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagagaggcataacaaatAccttagaagagtcatcaagc	19	6	9	7	0	2	4	2	0	0	4	2	5	2	4	1	1	3	1	1	1	7	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:103527879A>T	ENST00000355739.4	+	15	4610	c.3187A>T	c.(3187-3189)Acc>Tcc	p.T1063S	ERCC5_ENST00000375954.1_Missense_Mutation_p.T296S|ERCC5_ENST00000472247.1_3'UTR	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CATAACAAATACCTTAGAAGA	0.423			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				37	91					0	0	0	0	T	103527879	A	T	103527879	3	4	27	1	0	0	0	0	1	0	0	0	5254	391	14	5	3245	5	ERCC5	13	103527879	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	1277355	103527879	11641999	530	5598											
POTEG	404785	broad.mit.edu	37	chr14	19553629	19553629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccgccactgcttcccctgGtgcagggggagcagcaagag	7	6	15	13	1	0	1	0	0	0	1	1	2	1	2	4	3	5	4	4	3	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:19553629G>T	ENST00000409832.3	+	1	265	c.213G>T	c.(211-213)tgG>tgT	p.W71C		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	71										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCTTCCCCTGGTGCAGGGGGA	0.587													207	980					4.3601e-43	7.35263e-43	1	0	T	19553629	G	T	19553629	3	4	27	1	0	0	0	0	1	0	0	0	12338	1270	44	4	215	4	POTEG	14	19553629	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08		19553629	87795911	531	5599											
OR4N2	390429	broad.mit.edu	37	chr14	20296315	20296315	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggcaaaaaacaaggcCatgtccacgtgcatcaccca	14	6	8	13	1	2	1	1	1	1	0	3	1	3	1	3	2	2	2	3	2	4	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:20296315C>A	ENST00000315947.1	+	1	708	c.708C>A	c.(706-708)gcC>gcA	p.A236A	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	236					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)		AAAACAAGGCCATGTCCACGT	0.507													61	203					6.176e-18	9.66586e-18	1	0	A	20296315	C	A	20296315	2	1	27	1	0	0	0	0	0	0	0	1	11148	581	21	4		4	OR4N2	14	20296315	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	742686	20296315	87053225	532	5600											
OR4K5	79317	broad.mit.edu	37	chr14	20389118	20389118	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgctacttgtttcgaTggcctatgacaggtatgtag	8	14	13	6	1	0	1	0	1	0	0	1	3	0	1	1	3	2	4	1	3	4	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:20389118T>A	ENST00000315915.4	+	1	378	c.353T>A	c.(352-354)aTg>aAg	p.M118K		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGTTTCGATGGCCTATGAC	0.453													94	544					0	0	0	0	A	20389118	T	A	20389118	3	1	27	1	0	0	0	0	1	0	0	0	11144	1464	51	5	355	5	OR4K5	14	20389118	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	92803	20389118	86960422	533	5601											
OR4K14	122740	broad.mit.edu	37	chr14	20482659	20482659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgctttggatgtgctacCggcagcacgctgtctgatag	7	11	14	9	2	1	1	0	1	1	0	1	3	1	2	1	2	4	5	1	2	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:20482659C>T	ENST00000305045.2	-	1	693	c.694G>A	c.(694-696)Ggt>Agt	p.G232S		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GATGTGCTACCGGCAGCACGC	0.493													17	24					0	0	0	0	T	20482659	C	T	20482659	3	4	27	1	0	0	0	0	1	0	0	0	11140	652	23	1	241	1	OR4K14	14	20482659	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	93541	20482659	86866881	534	5602											
OR4K13	390433	broad.mit.edu	37	chr14	20502751	20502751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaaatacattggtgtgTgaaggagcgaatcaaaggtc	15	8	13	5	1	1	2	1	1	0	1	2	4	1	3	0	3	2	1	0	3	6	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:20502751T>C	ENST00000315693.2	-	1	168	c.167A>G	c.(166-168)cAc>cGc	p.H56R		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CATTGGTGTGTGAAGGAGCGA	0.438													11	45					0	0	0	0	C	20502751	T	C	20502751	3	2	27	1	0	0	0	0	1	0	0	0	11139	1696	59	5	749	5	OR4K13	14	20502751	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	20092	20502751	86846789	535	5603											
OR4L1	122742	broad.mit.edu	37	chr14	20528935	20528935	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacattgtctgcccacatCattgtggtcactctgttctt	6	16	6	13	0	5	0	2	0	3	0	6	0	6	0	2	1	1	1	2	1	0	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:20528935C>T	ENST00000315683.1	+	1	732	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTGCCCACATCATTGTGGTCA	0.408													19	104					0	0	0	0	T	20528935	C	T	20528935	2	4	27	1	0	0	0	0	0	0	0	1	11145	816	29	2		2	OR4L1	14	20528935	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	26184	20528935	86820605	536	5604											
CHD8	57680	broad.mit.edu	37	chr14	21873986	21873986	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaacagttcttctacagtaTtttgcaatggtgttcctgtg	9	17	8	7	0	2	0	0	0	2	0	3	0	3	0	1	1	3	4	1	1	5	8			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:21873986T>C	ENST00000399982.2	-	14	3009	c.2945A>G	c.(2944-2946)aAt>aGt	p.N982S	CHD8_ENST00000430710.3_Missense_Mutation_p.N703S|CHD8_ENST00000557364.1_Missense_Mutation_p.N982S|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	982	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCTACAGTATTTTGCAATGG	0.393													71	87					0	0	0	0	C	21873986	T	C	21873986	3	2	27	1	0	0	0	0	1	0	0	0	3360	1493	52	5	4896	5	CHD8	14	21873986	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1345051	21873986	85475554	537	5605											
MMP14	4323	broad.mit.edu	37	chr14	23311709	23311709	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagagtgccacaccactGcgcttccgcgaggtgcccta	7	7	13	14	3	0	1	0	0	0	1	1	3	1	1	4	2	3	1	4	2	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:23311709G>T	ENST00000311852.6	+	4	732	c.471G>T	c.(469-471)ctG>ctT	p.L157L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	157						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CCACACCACTGCGCTTCCGCG	0.602													6	50					0.00116845	0.00124037	1	0	T	23311709	G	T	23311709	2	4	27	1	0	0	0	0	0	0	0	1	9722	1306	46	4		4	MMP14	14	23311709	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1437723	23311709	84037831	538	5606											
JPH4	84502	broad.mit.edu	37	chr14	24044921	24044921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgatctcctggcgctgaCgggcagcactcacggctcga	6	6	14	15	6	2	1	1	1	1	0	4	3	2	1	1	4	1	4	1	4	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:24044921C>T	ENST00000397118.3	-	4	2026	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	JPH4_ENST00000356300.4_Missense_Mutation_p.R375H	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	375					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGGCGCTGACGGGCAGCACT	0.692													6	12					0	0	0	0	T	24044921	C	T	24044921	3	4	27	1	0	0	0	0	1	0	0	0	8016	536	19	1	778	1	JPH4	14	24044921	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	733212	24044921	83304619	539	5607											
TGM1	7051	broad.mit.edu	37	chr14	24729847	24729847	+	Frame_Shift_Del	DEL	C	C	-																															gggctttccagcctccactgCcccccttgcccactgggatg																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:24729847delC	ENST00000206765.6	-	4	689	c.566delG	c.(565-567)gcfs	p.G189fs	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	189					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GCCTCCACTGCCCCCCTTGCC	0.592													28	155	---	---	---	---					-	24729847	C	-	24729847	7	5	27	1	0	1	0	1	0	0	0	0	15923	739	26	0	1935	0	TGM1	14	24729847	Frame_Shift_Del	DEL	C	TCGA-BA-A6DA-01A-31D-A31L-08	684926	24729847	82619693	540	5608											
PRKD1	5587	broad.mit.edu	37	chr14	30105519	30105519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttctgttggcgtcctcGtggtctgggtctggatcttg	2	16	15	8	2	4	0	0	0	4	0	6	1	5	1	1	5	0	2	1	5	0	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:30105519G>T	ENST00000331968.5	-	7	1396	c.1167C>A	c.(1165-1167)caC>caA	p.H389Q	PRKD1_ENST00000415220.2_Missense_Mutation_p.H397Q	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	389					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGGCGTCCTCGTGGTCTGGGT	0.507													46	242					8.44121e-28	1.39517e-27	1	0	T	30105519	G	T	30105519	3	4	27	1	0	0	0	0	1	0	0	0	12598	1136	40	3	1619	3	PRKD1	14	30105519	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5375672	30105519	77244021	541	5609											
CLEC14A	161198	broad.mit.edu	37	chr14	38724166	38724166	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatttgaagggtagacatCgtgctctgtgatccccatcg	9	11	11	10	2	1	3	0	2	1	1	4	4	2	3	2	1	1	2	2	1	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:38724166C>A	ENST00000342213.2	-	1	1408	c.1062G>T	c.(1060-1062)acG>acT	p.T354T		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	354						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGGTAGACATCGTGCTCTGTG	0.493													15	68					8.60227e-14	1.25e-13	1	0	A	38724166	C	A	38724166	2	1	27	1	0	0	0	0	0	0	0	1	3529	871	31	3		3	CLEC14A	14	38724166	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	8618647	38724166	68625374	542	5610											
LRFN5	145581	broad.mit.edu	37	chr14	42355882	42355882	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatagcagtgaaagctcaGatctgtccaaagcgttgtgt	11	10	12	8	1	2	2	1	1	1	1	3	2	3	2	1	1	3	4	1	1	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:42355882G>A	ENST00000554171.1	+	5	2486	c.54G>A	c.(52-54)caG>caA	p.Q18Q	LRFN5_ENST00000554120.1_Silent_p.Q18Q|LRFN5_ENST00000298119.4_Silent_p.Q18Q			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	18	LRRNT.					integral to membrane		p.Q18Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAAAGCTCAGATCTGTCCAA	0.383										HNSCC(30;0.082)			7	36					0	0	0	0	A	42355882	G	A	42355882	2	1	27	1	0	0	0	0	0	0	0	1	9005	933	33	2		2	LRFN5	14	42355882	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3631716	42355882	64993658	543	5611											
KLHDC1	122773	broad.mit.edu	37	chr14	50159966	50159966	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgcagcggccactgcgcCgtggtggacggaaacttcct	8	6	14	13	5	0	0	0	0	0	0	1	3	1	2	3	4	4	1	3	4	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:50159966C>G	ENST00000359332.2	+	1	144	c.54C>G	c.(52-54)gcC>gcG	p.A18A		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	18						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GCCACTGCGCCGTGGTGGACG	0.706													8	46					0	0	0	0	G	50159966	C	G	50159966	2	3	27	1	0	0	0	0	0	0	0	1	8406	639	23	3		3	KLHDC1	14	50159966	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	7804084	50159966	57189574	544	5612											
FERMT2	10979	broad.mit.edu	37	chr14	53347986	53347986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttgatttttgctttatcaAgaagagcttgaggcttgaac	10	15	11	5	0	1	5	1	3	0	2	1	5	1	5	0	2	3	4	0	2	4	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:53347986A>G	ENST00000395631.2	-	5	944	c.728T>C	c.(727-729)cTt>cCt	p.L243P	FERMT2_ENST00000341590.3_Missense_Mutation_p.L243P|FERMT2_ENST00000343279.4_Missense_Mutation_p.L243P|FERMT2_ENST00000553373.1_Missense_Mutation_p.L243P|FERMT2_ENST00000399304.3_Missense_Mutation_p.L243P			Q96AC1	FERM2_HUMAN	fermitin family member 2	243	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TGCTTTATCAAGAAGAGCTTG	0.373													31	158					0	0	0	0	G	53347986	A	G	53347986	3	3	27	1	0	0	0	0	1	0	0	0	5863	72	3	5	1395	5	FERMT2	14	53347986	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	3188020	53347986	54001554	545	5613											
BMP4	652	broad.mit.edu	37	chr14	54417051	54417051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatagagcgagtggcgcCggcagttcttattcttcttc	7	12	10	12	3	3	1	0	0	3	1	4	2	3	1	2	2	1	2	2	2	2	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:54417051C>A	ENST00000245451.4	-	4	1319	c.926G>T	c.(925-927)cGg>cTg	p.R309L	BMP4_ENST00000559087.1_Missense_Mutation_p.R309L|BMP4_ENST00000417573.1_Missense_Mutation_p.R309L|BMP4_ENST00000558984.1_Missense_Mutation_p.R309L	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	309					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CGAGTGGCGCCGGCAGTTCTT	0.627													16	54					1.52009e-12	2.12766e-12	1	0	A	54417051	C	A	54417051	3	1	27	1	0	0	0	0	1	0	0	0	1467	652	23	3	304	3	BMP4	14	54417051	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1069065	54417051	52932489	546	5614											
RTN1	6252	broad.mit.edu	37	chr14	60212950	60212950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctctattccagaatcaGaactaaataagccacgagac	16	9	5	11	1	3	3	2	0	1	3	5	4	4	3	2	0	2	0	2	0	6	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:60212950G>T	ENST00000267484.5	-	2	826	c.491C>A	c.(490-492)tCt>tAt	p.S164Y		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	164					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCCAGAATCAGAACTAAATAA	0.502													38	54					1.60099e-16	2.4552e-16	1	0	T	60212950	G	T	60212950	3	4	27	1	0	0	0	0	1	0	0	0	13810	942	33	2	1936	2	RTN1	14	60212950	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5795899	60212950	47136590	547	5615											
GPHN	10243	broad.mit.edu	37	chr14	67647535	67647535	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggtaatcaaatgagcAgccgtctgatgagcatgcgc	11	10	11	9	2	3	3	1	3	2	0	3	3	3	3	1	1	4	3	1	1	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:67647535A>T	ENST00000478722.1	+	23	3312	c.2191A>T	c.(2191-2193)Agc>Tgc	p.S731C	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.S744C|GPHN_ENST00000305960.9_Missense_Mutation_p.S667C|GPHN_ENST00000315266.5_Missense_Mutation_p.S698C	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	698	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TCAAATGAGCAGCCGTCTGAT	0.453			T	MLL	AL								17	15					0	0	0	0	T	67647535	A	T	67647535	3	4	27	1	0	0	0	0	1	0	0	0	6659	188	7	5	2281	5	GPHN	14	67647535	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	7434585	67647535	39702005	548	5616											
ATP6V1D	51382	broad.mit.edu	37	chr14	67812559	67812559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttagccaactgttcccCacctctggctaaaccagtca	11	11	5	14	0	2	0	1	0	1	0	3	0	3	0	5	1	3	2	5	1	5	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:67812559C>G	ENST00000216442.7	-	6	932	c.382G>C	c.(382-384)Ggg>Cgg	p.G128R	ATP6V1D_ENST00000555431.1_Missense_Mutation_p.G73R|ATP6V1D_ENST00000555474.1_Intron|ATP6V1D_ENST00000554236.1_Missense_Mutation_p.G128R	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	128					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		AACTGTTCCCCACCTCTGGCT	0.408													5	43					0	0	0	0	G	67812559	C	G	67812559	3	3	27	1	0	0	0	0	1	0	0	0	1186	594	21	4	377	4	ATP6V1D	14	67812559	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	165024	67812559	39536981	549	5617											
DPF3	8110	broad.mit.edu	37	chr14	73159872	73159872	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctggccaggtgagtgtgAgcatagtggtagctgagccc	7	9	16	9	1	0	3	0	3	0	0	1	3	0	3	2	3	3	4	2	3	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:73159872A>T	ENST00000541685.1	-	7	666	c.654T>A	c.(652-654)gcT>gcA	p.A218A	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Silent_p.A228A|DPF3_ENST00000556509.1_Silent_p.A218A	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	218					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGTGAGTGTGAGCATAGTGGT	0.537													63	78					0	0	0	0	T	73159872	A	T	73159872	2	4	27	1	0	0	0	0	0	0	0	1	4754	291	11	5		5	DPF3	14	73159872	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	5347313	73159872	34189668	550	5618											
RPS6KL1	83694	broad.mit.edu	37	chr14	75375585	75375585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcatacagtagagaccCaaagctccaccagtcacagg	14	6	8	13	0	2	1	2	0	0	1	3	2	3	1	3	1	2	3	3	1	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:75375585C>A	ENST00000555647.1	-	10	1698	c.1411G>T	c.(1411-1413)Ggg>Tgg	p.G471W	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G471W|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G471W|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G440W			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	471	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		AGTAGAGACCCAAAGCTCCAC	0.587													24	51					1.77063e-15	2.6487e-15	1	0	A	75375585	C	A	75375585	3	1	27	1	0	0	0	0	1	0	0	0	13744	594	21	4	323	4	RPS6KL1	14	75375585	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2215713	75375585	31973955	551	5619											
NRXN3	9369	broad.mit.edu	37	chr14	80158584	80158584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaatataatcggcctgtaGaggagtggctgcaggaaaaa	15	8	12	6	1	1	1	1	0	0	1	2	3	1	3	1	4	1	3	1	4	6	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:80158584G>A	ENST00000428277.2	+	4	1056	c.670G>A	c.(670-672)Gag>Aag	p.E224K	NRXN3_ENST00000557594.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000281127.7_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000556003.1_Intron	NM_001105250.1	NP_001098720.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	200	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)		TCGGCCTGTAGAGGAGTGGCT	0.338													23	19					0	0	0	0	A	80158584	G	A	80158584	3	1	27	1	0	0	0	0	1	0	0	0	10738	943	33	2	2867	2	NRXN3	14	80158584	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4782999	80158584	27190956	552	5620											
GTF2A1	2957	broad.mit.edu	37	chr14	81646661	81646661	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgaaatttccatttgtttTtacttctgtgtatctaaaca	11	19	5	6	0	2	1	0	1	2	0	3	2	3	1	1	0	2	2	1	0	5	8			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:81646661T>A	ENST00000553612.1	-	9	1440	c.1037A>T	c.(1036-1038)aAa>aTa	p.K346I	GTF2A1_ENST00000434192.2_Missense_Mutation_p.K307I	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	346					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		CCATTTGTTTTTACTTCTGTG	0.313													14	84					0	0	0	0	A	81646661	T	A	81646661	3	1	27	1	0	0	0	0	1	0	0	0	6902	1841	64	5	97	5	GTF2A1	14	81646661	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1488077	81646661	25702879	553	5621											
ATG2B	55102	broad.mit.edu	37	chr14	96784149	96784149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attctcgaatgtctccactgGtgaaggagctgttggttccc	7	13	11	10	1	2	1	0	1	2	0	5	3	3	2	2	3	1	3	2	3	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:96784149G>T	ENST00000359933.4	-	19	3816	c.2923C>A	c.(2923-2925)Cca>Aca	p.P975T		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	975										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GTCTCCACTGGTGAAGGAGCT	0.368													53	65					2.23044e-30	3.70658e-30	1	0	T	96784149	G	T	96784149	3	4	27	1	0	0	0	0	1	0	0	0	1098	1261	44	4	3409	4	ATG2B	14	96784149	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	15137488	96784149	10565391	554	5622											
AHNAK2	113146	broad.mit.edu	37	chr14	105419118	105419118	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggccagcctggacctcCaggtcagcggaagggggctg	7	6	16	12	1	1	0	1	0	0	0	2	2	2	2	4	6	2	1	4	6	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:105419118C>A	ENST00000333244.5	-	7	2789	c.2670G>T	c.(2668-2670)ctG>ctT	p.L890L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	890						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTGGACCTCCAGGTCAGCGG	0.642													168	232					2.1406e-88	3.62316e-88	1	0	A	105419118	C	A	105419118	2	1	27	1	0	0	0	0	0	0	0	1	415	581	21	4		4	AHNAK2	14	105419118	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	8634969	105419118	1930422	555	5623											
OR4N4	283694	broad.mit.edu	37	chr15	22382703	22382703	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctactccttcattgtGgctcccaggatgttggtgga	6	13	11	11	0	1	0	1	0	0	0	4	2	4	2	3	4	1	3	3	4	1	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:22382703G>T	ENST00000328795.4	+	1	322	c.231G>T	c.(229-231)gtG>gtT	p.V77V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTTCATTGTGGCTCCCAGGA	0.498													29	149					2.75727e-19	4.38286e-19	1	0	T	22382703	G	T	22382703	2	4	27	1	0	0	0	0	0	0	0	1	11149	1335	47	4		4	OR4N4	15	22382703	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08		22382703	80148689	556	5624											
MKRN3	7681	broad.mit.edu	37	chr15	23811081	23811081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agattcagccctgccacatgCggcaaggggctgggccccct	7	6	13	15	1	1	1	1	0	0	1	1	1	1	1	4	4	3	2	4	4	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:23811081C>A	ENST00000314520.3	+	1	628	c.152C>A	c.(151-153)gCg>gAg	p.A51E	MKRN3_ENST00000564592.1_Missense_Mutation_p.A51E|MKRN3_ENST00000568252.1_Missense_Mutation_p.A51E	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	51						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGCCACATGCGGCAAGGGGC	0.692													15	45					1.5739e-10	2.07283e-10	1	0	A	23811081	C	A	23811081	3	1	27	1	0	0	0	0	1	0	0	0	9677	768	27	3	154	3	MKRN3	15	23811081	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1428378	23811081	78720311	557	5625											
MKRN3	7681	broad.mit.edu	37	chr15	23811368	23811368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggccctagcacggctGcgcacatcgagcccccgact	7	5	13	16	4	0	0	0	0	0	0	1	3	0	1	3	3	3	3	3	3	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:23811368G>T	ENST00000314520.3	+	1	915	c.439G>T	c.(439-441)Gcg>Tcg	p.A147S	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	147						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TAGCACGGCTGCGCACATCGA	0.637													10	39					7.48243e-07	8.90487e-07	1	0	T	23811368	G	T	23811368	3	4	27	1	0	0	0	0	1	0	0	0	9677	1319	46	4	441	4	MKRN3	15	23811368	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	287	23811368	78720024	558	5626											
GABRB3	2562	broad.mit.edu	37	chr15	26825522	26825522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccacgatggagaactgcGggagctcaatcctttccact	9	9	10	13	2	1	1	1	0	0	1	4	4	4	2	3	2	3	2	3	2	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:26825522G>A	ENST00000541819.2	-	7	896	c.794C>T	c.(793-795)cCg>cTg	p.P265L	GABRB3_ENST00000299267.4_Missense_Mutation_p.P209L|GABRB3_ENST00000545868.1_Missense_Mutation_p.P124L|GABRB3_ENST00000400188.3_Missense_Mutation_p.P138L|GABRB3_ENST00000311550.5_Missense_Mutation_p.P209L			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	209					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	GGAGAACTGCGGGAGCTCAAT	0.562													28	73					0	0	0	0	A	26825522	G	A	26825522	3	1	27	1	0	0	0	0	1	0	0	0	6216	1116	39	1	811	1	GABRB3	15	26825522	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3014154	26825522	75705870	559	5627											
APBA2	321	broad.mit.edu	37	chr15	29346507	29346507	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggaggcggtggaggaGtggacggactcggcgggccc	6	4	21	10	4	0	0	0	0	0	0	1	5	0	5	2	9	1	0	2	9	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:29346507G>A	ENST00000558402.1	+	5	1019	c.420G>A	c.(418-420)gaG>gaA	p.E140E	APBA2_ENST00000411764.1_Silent_p.E140E|APBA2_ENST00000561069.1_Silent_p.E140E|APBA2_ENST00000558259.1_Silent_p.E140E|APBA2_ENST00000558330.1_Silent_p.E140E			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	140					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGGTGGAGGAGTGGACGGACT	0.667													19	65					0	0	0	0	A	29346507	G	A	29346507	2	1	27	1	0	0	0	0	0	0	0	1	758	1020	36	4		4	APBA2	15	29346507	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2520985	29346507	73184885	560	5628											
ACTC1	70	broad.mit.edu	37	chr15	35086990	35086990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcgcacaccagggcggtgGtctcctcgtcgtcacacatc	6	9	11	15	4	2	0	1	0	1	0	7	0	2	0	2	3	0	1	2	3	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:35086990G>T	ENST00000290378.4	-	2	675	c.20C>A	c.(19-21)aCc>aAc	p.T7N	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	7					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CAGGGCGGTGGTCTCCTCGTC	0.677													36	139					2.40579e-17	3.73327e-17	1	0	T	35086990	G	T	35086990	3	4	27	1	0	0	0	0	1	0	0	0	195	1261	44	4	1137	4	ACTC1	15	35086990	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5740483	35086990	67444402	561	5629											
IVD	3712	broad.mit.edu	37	chr15	40710403	40710403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgtatgagataggggctGggaccagcgaggtgaggcgg	9	6	20	6	2	0	2	0	2	0	1	0	5	0	3	1	6	2	3	1	6	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:40710403G>T	ENST00000249760.2	+	12	1556	c.1213G>T	c.(1213-1215)Ggg>Tgg	p.G405W	IVD_ENST00000479013.2_Missense_Mutation_p.G378W|IVD_ENST00000487418.2_Missense_Mutation_p.G408W	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	405	Substrate binding.				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GATAGGGGCTGGGACCAGCGA	0.567													20	72					1.55795e-14	2.29671e-14	1	0	T	40710403	G	T	40710403	3	4	27	1	0	0	0	0	1	0	0	0	7981	1348	47	4	1268	4	IVD	15	40710403	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5623413	40710403	61820989	562	5630											
MGA	23269	broad.mit.edu	37	chr15	42042113	42042113	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacagtccaaaatttaagtaAagtacagcatcaaaaacttg	19	9	6	7	0	1	0	1	0	0	0	2	1	2	0	1	0	3	3	1	0	8	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:42042113A>C	ENST00000219905.7	+	17	6489	c.6308A>C	c.(6307-6309)aAa>aCa	p.K2103T	MGA_ENST00000566586.1_Missense_Mutation_p.K1894T|MGA_ENST00000545763.1_Missense_Mutation_p.K1894T|MGA_ENST00000389936.4_Missense_Mutation_p.K2064T|MGA_ENST00000570161.1_Missense_Mutation_p.K2103T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2064						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATTTAAGTAAAGTACAGCAT	0.388													11	36					0	0	0	0	C	42042113	A	C	42042113	3	2	27	1	0	0	0	0	1	0	0	0	9609	14	1	5	6370	5	MGA	15	42042113	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	1331710	42042113	60489279	563	5631											
SPTBN5	51332	broad.mit.edu	37	chr15	42169093	42169093	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccccagggtgctcaggagCcgcccaaactcccggtgctg	6	5	14	16	2	1	0	1	0	0	0	2	1	2	1	5	4	4	2	5	4	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:42169093C>A	ENST00000320955.6	-	19	3992	c.3765G>T	c.(3763-3765)cgG>cgT	p.R1255R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1255					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCTCAGGAGCCGCCCAAACT	0.677													6	30					0.217242	0.218678	1	0	A	42169093	C	A	42169093	2	1	27	1	0	0	0	0	0	0	0	1	15212	726	26	4		4	SPTBN5	15	42169093	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	126980	42169093	60362299	564	5632											
UBR1	197131	broad.mit.edu	37	chr15	43252873	43252873	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttttttgcttcaaacagTttagtaaggcaggatctgca	10	16	9	6	0	2	0	1	0	1	0	2	1	2	1	0	2	3	6	0	2	3	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:43252873T>G	ENST00000290650.4	-	43	4805	c.4727A>C	c.(4726-4728)aAc>aCc	p.N1576T	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1576					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTTCAAACAGTTTAGTAAGGC	0.398													9	23					0	0	0	0	G	43252873	T	G	43252873	3	3	27	1	0	0	0	0	1	0	0	0	16997	1725	60	5	542	5	UBR1	15	43252873	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1083780	43252873	59278519	565	5633											
GABPB1	2553	broad.mit.edu	37	chr15	50596258	50596258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcatctctgctcacacCagctcgcagcagtacctctg	7	10	8	16	1	4	0	1	0	3	0	6	0	4	0	2	1	4	6	2	1	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:50596258C>T	ENST00000380877.3	-	3	604	c.181G>A	c.(181-183)Ggt>Agt	p.G61S	GABPB1_ENST00000429662.2_Missense_Mutation_p.G61S|GABPB1_ENST00000560825.1_Missense_Mutation_p.G61S|GABPB1_ENST00000359031.4_Missense_Mutation_p.G61S|GABPB1_ENST00000543881.1_5'UTR|GABPB1_ENST00000220429.8_Missense_Mutation_p.G61S|GABPB1_ENST00000396464.3_Missense_Mutation_p.G61S	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	61					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						CTGCTCACACCAGCTCGCAGC	0.463													24	61					0	0	0	0	T	50596258	C	T	50596258	3	4	27	1	0	0	0	0	1	0	0	0	6206	594	21	4	1082	4	GABPB1	15	50596258	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	7343385	50596258	51935134	566	5634											
SCG3	29106	broad.mit.edu	37	chr15	51975582	51975582	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccaagaatcgaaaactGatcgatgattatgactctac	16	10	6	9	2	2	4	1	3	1	1	4	6	2	4	1	0	3	0	1	0	7	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:51975582G>T	ENST00000220478.3	+	4	751	c.348G>T	c.(346-348)ctG>ctT	p.L116L	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	116					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATCGAAAACTGATCGATGATT	0.323													32	100					3.62531e-18	5.69335e-18	1	0	T	51975582	G	T	51975582	2	4	27	1	0	0	0	0	0	0	0	1	13978	1277	45	2		2	SCG3	15	51975582	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1379324	51975582	50555810	567	5635											
ONECUT1	3175	broad.mit.edu	37	chr15	53081360	53081360	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggccgttgatgggcaccAtgccggccgaggtgggcgtg	6	6	19	10	4	0	1	0	1	0	0	0	3	0	1	4	5	1	2	4	5	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:53081360A>G	ENST00000305901.5	-	1	849	c.722T>C	c.(721-723)aTg>aCg	p.M241T	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	241					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GATGGGCACCATGCCGGCCGA	0.711													36	106					0	0	0	0	G	53081360	A	G	53081360	3	3	27	1	0	0	0	0	1	0	0	0	10939	217	8	5	683	5	ONECUT1	15	53081360	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	1105778	53081360	49450032	568	5636											
WDR72	256764	broad.mit.edu	37	chr15	53997322	53997322	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgaagtgactacagcaGttcctgccccatctttaagc	10	11	8	12	0	1	3	0	3	1	0	2	3	2	3	3	0	4	2	3	0	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:53997322G>C	ENST00000396328.1	-	11	1450	c.1211C>G	c.(1210-1212)aCt>aGt	p.T404S	WDR72_ENST00000559418.1_Missense_Mutation_p.T414S|WDR72_ENST00000557913.1_Missense_Mutation_p.T401S|WDR72_ENST00000360509.5_Missense_Mutation_p.T404S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	404										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GACTACAGCAGTTCCTGCCCC	0.393													32	86					0	0	0	0	C	53997322	G	C	53997322	3	2	27	1	0	0	0	0	1	0	0	0	17418	1029	36	4	2137	4	WDR72	15	53997322	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	915962	53997322	48534070	569	5637											
NEDD4	4734	broad.mit.edu	37	chr15	56152955	56152955	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagttgaatgttgccattCtcagcatctgttaggttgtc	7	16	10	8	0	2	1	1	1	2	0	4	1	2	1	1	1	3	6	1	1	2	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:56152955C>G	ENST00000508342.1	-	6	2252	c.1953G>C	c.(1951-1953)gaG>gaC	p.E651D	NEDD4_ENST00000338963.2_Missense_Mutation_p.E579D|NEDD4_ENST00000506154.1_Missense_Mutation_p.E635D|NEDD4_ENST00000435532.3_Missense_Mutation_p.E232D			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	651	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGTTGCCATTCTCAGCATCTG	0.418													8	72					0	0	0	0	G	56152955	C	G	56152955	3	3	27	1	0	0	0	0	1	0	0	0	10380	912	32	2	2086	2	NEDD4	15	56152955	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2155633	56152955	46378437	570	5638											
VPS13C	54832	broad.mit.edu	37	chr15	62167138	62167138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcaaattcttcagggcCttgaacagcaccctggcaaa	11	9	8	13	0	3	1	1	1	2	0	3	1	3	1	2	2	3	3	2	2	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:62167138C>T	ENST00000261517.5	-	77	10424	c.10351G>A	c.(10351-10353)Ggc>Agc	p.G3451S	VPS13C_ENST00000249837.3_Missense_Mutation_p.G3408S|VPS13C_ENST00000395898.3_Missense_Mutation_p.G3408S|VPS13C_ENST00000395896.4_Missense_Mutation_p.G3451S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3451					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTTCAGGGCCTTGAACAGCA	0.323													29	110					0	0	0	0	T	62167138	C	T	62167138	3	4	27	1	0	0	0	0	1	0	0	0	17287	681	24	4	974	4	VPS13C	15	62167138	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	6014183	62167138	40364254	571	5639											
TLN2	83660	broad.mit.edu	37	chr15	63076078	63076078	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatggcagcagccacggcgGaaccagaggaggtctgccac	11	3	15	12	2	1	2	0	0	1	2	1	4	1	4	3	5	4	2	3	5	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:63076078G>T	ENST00000561311.1	+	44	5955	c.5725G>T	c.(5725-5727)Gaa>Taa	p.E1909*	TLN2_ENST00000306829.6_Nonsense_Mutation_p.E1909*|TLN2_ENST00000472902.1_Nonsense_Mutation_p.E302*			Q9Y4G6	TLN2_HUMAN	talin 2	1909					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCCACGGCGGAACCAGAGGA	0.552													17	72					7.45023e-12	1.02399e-11	1	0	T	63076078	G	T	63076078	4	4	27	1	0	0	0	0	0	1	0	0	16042	1175	41	2	5891	2	TLN2	15	63076078	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	908940	63076078	39455314	572	5640											
LARP6	55323	broad.mit.edu	37	chr15	71124778	71124778	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagattctggtggccagaCgggctgagcttgttggtggc	7	10	17	7	1	1	3	0	1	1	2	1	4	1	3	1	5	1	3	1	5	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:71124778C>A	ENST00000299213.8	-	3	1159	c.1089G>T	c.(1087-1089)ccG>ccT	p.P363P		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	363					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GGTGGCCAGACGGGCTGAGCT	0.612													12	52					4.3838e-07	5.24449e-07	1	0	A	71124778	C	A	71124778	2	1	27	1	0	0	0	0	0	0	0	1	8685	523	19	3		3	LARP6	15	71124778	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	8048700	71124778	31406614	573	5641											
NEO1	4756	broad.mit.edu	37	chr15	73580727	73580727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaagatgtgaaacctccaGatctctggatccatcatgag	13	9	8	11	0	2	4	1	2	1	2	5	5	4	5	4	1	1	0	4	1	2	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:73580727G>C	ENST00000339362.5	+	25	3931	c.3484G>C	c.(3484-3486)Gat>Cat	p.D1162H	NEO1_ENST00000560262.1_Missense_Mutation_p.D1162H|NEO1_ENST00000261908.6_Missense_Mutation_p.D1162H|NEO1_ENST00000558964.1_Missense_Mutation_p.D1151H			Q92859	NEO1_HUMAN	neogenin 1	1162					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAAACCTCCAGATCTCTGGAT	0.463													20	76					0	0	0	0	C	73580727	G	C	73580727	3	2	27	1	0	0	0	0	1	0	0	0	10406	942	33	2	3578	2	NEO1	15	73580727	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2455949	73580727	28950665	574	5642											
TBC1D2B	23102	broad.mit.edu	37	chr15	78305432	78305432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacttccacaccttggaaCggtgctcgtggggaatgccc	8	8	11	14	2	0	0	0	0	0	0	2	2	1	2	4	4	3	1	4	4	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:78305432C>A	ENST00000409931.3	-	9	2074	c.2003G>T	c.(2002-2004)cGt>cTt	p.R668L	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R668L			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	668	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CACCTTGGAACGGTGCTCGTG	0.532													14	39					7.93312e-07	9.41672e-07	1	0	A	78305432	C	A	78305432	3	1	27	1	0	0	0	0	1	0	0	0	15710	536	19	3	908	3	TBC1D2B	15	78305432	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	4724705	78305432	24225960	575	5643											
TMC3	342125	broad.mit.edu	37	chr15	81625254	81625254	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcactcagctgtggggaggGaggctggcgggggacccggg	5	6	21	9	2	2	0	2	0	0	0	2	3	2	3	1	8	1	2	1	8	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:81625254G>C	ENST00000558726.1	-	22	2947	c.2812C>G	c.(2812-2814)Ccc>Gcc	p.P938A	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.P937A|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	937						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGTGGGGAGGGAGGCTGGCGG	0.577													12	37					0	0	0	0	C	81625254	G	C	81625254	3	2	27	1	0	0	0	0	1	0	0	0	16080	1174	41	2	497	2	TMC3	15	81625254	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3319822	81625254	20906138	576	5644											
AGBL1	123624	broad.mit.edu	37	chr15	86940702	86940702	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcagcagtgaccctgTggctaggctcttgagggaaa	8	9	14	10	0	2	2	1	2	1	0	2	3	2	3	2	4	1	3	2	4	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:86940702T>C	ENST00000441037.2	+	17	2437	c.2342T>C	c.(2341-2343)gTg>gCg	p.V781A	AGBL1_ENST00000389298.3_Missense_Mutation_p.V512A|AGBL1_ENST00000421325.2_Missense_Mutation_p.V781A	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	781					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGTGACCCTGTGGCTAGGCTC	0.522													18	85					0	0	0	0	C	86940702	T	C	86940702	3	2	27	1	0	0	0	0	1	0	0	0	375	1696	59	5	2404	5	AGBL1	15	86940702	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	5315448	86940702	15590690	577	5645											
WDR90	197335	broad.mit.edu	37	chr16	708987	708987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggacgccgtcttcctctGggatgtcctggcccctactg	4	10	13	14	2	2	0	0	0	2	0	4	2	4	2	5	4	1	0	5	4	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:708987G>T	ENST00000549091.1	+	24	3079	c.2987G>T	c.(2986-2988)tGg>tTg	p.W996L	WDR90_ENST00000293879.4_Missense_Mutation_p.W996L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	996										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTCTTCCTCTGGGATGTCCTG	0.642													25	93					3.28513e-13	4.66243e-13	1	0	T	708987	G	T	708987	3	4	27	1	0	0	0	0	1	0	0	0	17433	1357	47	4	3081	4	WDR90	16	708987	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08		708987	89645766	578	5646											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140535	3140535	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgggcgcaaggctctccCggcaccccaggactatctgc	7	6	12	16	2	2	0	0	0	2	0	3	2	2	1	3	4	1	3	3	4	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:3140535C>A	ENST00000252463.2	-	5	822	c.735G>T	c.(733-735)ccG>ccT	p.P245P	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Silent_p.P163P	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	245					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AAGGCTCTCCCGGCACCCCAG	0.602													22	89					2.44723e-14	3.59032e-14	1	0	A	3140535	C	A	3140535	2	1	27	1	0	0	0	0	0	0	0	1	18320	639	23	3		3	ZSCAN10	16	3140535	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2431548	3140535	87214218	579	5647											
UBN1	29855	broad.mit.edu	37	chr16	4910698	4910698	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgccagtaaggagaagaaGaagaagaaatattctggggc	18	6	13	4	0	1	5	0	0	1	5	1	6	1	5	1	3	1	1	1	3	8	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:4910698G>C	ENST00000396658.4	+	6	1408	c.705G>C	c.(703-705)aaG>aaC	p.K235N	UBN1_ENST00000262376.6_Missense_Mutation_p.K235N|UBN1_ENST00000545171.1_Missense_Mutation_p.K235N|UBN1_ENST00000590769.1_Missense_Mutation_p.K235N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	235	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGGAGAAGAAGAAGAAGAAAT	0.453													44	165					0	0	0	0	C	4910698	G	C	4910698	3	2	27	1	0	0	0	0	1	0	0	0	16988	933	33	2	727	2	UBN1	16	4910698	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1770163	4910698	85444055	580	5648											
TEKT5	146279	broad.mit.edu	37	chr16	10788335	10788335	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggcaggtgccctcctgcatCtggtgcgtcagctggtcctt	3	11	13	14	2	2	0	1	0	1	0	4	0	4	0	3	4	4	3	3	4	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:10788335C>G	ENST00000283025.2	-	1	467	c.396G>C	c.(394-396)caG>caC	p.Q132H		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	132					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CCTCCTGCATCTGGTGCGTCA	0.637													57	175					0	0	0	0	G	10788335	C	G	10788335	3	3	27	1	0	0	0	0	1	0	0	0	15850	912	32	2	1089	2	TEKT5	16	10788335	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	5877637	10788335	79566418	581	5649											
GP2	2813	broad.mit.edu	37	chr16	20331707	20331707	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcaatgacctcctccccCaaacccaggcctcccagcaa	11	5	6	19	0	0	1	0	1	0	0	3	1	3	1	7	2	2	2	7	2	4	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:20331707C>T	ENST00000302555.5	-	5	884	c.735G>A	c.(733-735)ttG>ttA	p.L245L	GP2_ENST00000381360.5_Silent_p.L101L|GP2_ENST00000381362.4_Silent_p.L248L|GP2_ENST00000341642.5_Silent_p.L98L|GP2_ENST00000573897.1_5'UTR			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	248	ZP.					anchored to membrane|extracellular region|plasma membrane				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						CCTCCTCCCCCAAACCCAGGC	0.567													29	52					0	0	0	0	T	20331707	C	T	20331707	2	4	27	1	0	0	0	0	0	0	0	1	6631	593	21	4		4	GP2	16	20331707	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	9543372	20331707	70023046	582	5650											
ACSM1	116285	broad.mit.edu	37	chr16	20636822	20636822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccaccaaagcgctttcaaCctctgcaggcccgatgcgat	9	8	8	16	3	2	0	1	0	1	0	3	2	3	0	4	1	4	2	4	1	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:20636822C>T	ENST00000219151.4	-	12	1613	c.403G>A	c.(403-405)Gtt>Att	p.V135I	ACSM1_ENST00000520010.1_Missense_Mutation_p.V484I|ACSM1_ENST00000307493.4_Missense_Mutation_p.V484I			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	484					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GCGCTTTCAACCTCTGCAGGC	0.607													8	29					0	0	0	0	T	20636822	C	T	20636822	3	4	27	1	0	0	0	0	1	0	0	0	182	507	18	4	295	4	ACSM1	16	20636822	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	305115	20636822	69717931	583	5651											
DNAH3	55567	broad.mit.edu	37	chr16	20996903	20996903	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagatagtgctccatgacCacagtcagctgtttcaggtc	9	11	9	12	0	2	2	2	1	0	1	5	2	4	2	3	1	2	3	3	1	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:20996903C>A	ENST00000261383.3	-	48	7160	c.7161G>T	c.(7159-7161)gtG>gtT	p.V2387V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2387					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTCCATGACCACAGTCAGCT	0.453													21	79					2.89027e-11	3.90207e-11	1	0	A	20996903	C	A	20996903	2	1	27	1	0	0	0	0	0	0	0	1	4640	581	21	4		4	DNAH3	16	20996903	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	360081	20996903	69357850	584	5652											
TMEM159	57146	broad.mit.edu	37	chr16	21190859	21190859	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaagtctgcagaattcgaGgggctttaccaggaatgagt	12	10	13	6	1	1	3	0	2	1	1	2	5	1	4	1	3	2	2	1	3	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:21190859G>C	ENST00000233047.4	+	5	936	c.468G>C	c.(466-468)gaG>gaC	p.E156D	TMEM159_ENST00000261388.3_Missense_Mutation_p.E156D|TMEM159_ENST00000572258.1_3'UTR|TMEM159_ENST00000572599.1_Missense_Mutation_p.E156D|TMEM159_ENST00000451578.2_Missense_Mutation_p.E180D			Q96B96	TM159_HUMAN	transmembrane protein 159	156						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		CAGAATTCGAGGGGCTTTACC	0.507													16	66					0	0	0	0	C	21190859	G	C	21190859	3	2	27	1	0	0	0	0	1	0	0	0	16168	991	35	4	482	4	TMEM159	16	21190859	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	193956	21190859	69163894	585	5653											
CLN3	1201	broad.mit.edu	37	chr16	28502858	28502858	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtccaacagagggagccGgggctccgggacggtctcct	7	6	16	12	3	1	1	0	0	1	1	4	3	3	3	4	6	2	1	4	6	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:28502858G>T	ENST00000569430.1	-	4	889	c.70C>A	c.(70-72)Cgg>Agg	p.R24R	CLN3_ENST00000354630.5_Silent_p.R24R|CLN3_ENST00000357076.5_Silent_p.R24R|CLN3_ENST00000567963.1_Silent_p.R24R|CLN3_ENST00000333496.9_Silent_p.R24R|CLN3_ENST00000359984.7_Silent_p.R24R|CLN3_ENST00000535392.1_Intron|CLN3_ENST00000395653.4_Intron|CLN3_ENST00000357857.9_Intron|CLN3_ENST00000357806.7_Silent_p.R24R|CLN3_ENST00000565316.1_Silent_p.R24R|CLN3_ENST00000360019.2_Silent_p.R24R|CLN3_ENST00000355477.5_Silent_p.R24R|CLN3_ENST00000568224.1_Intron			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	24					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						AGAGGGAGCCGGGGCTCCGGG	0.647											OREG0023706	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	24					3.59834e-05	4.03049e-05	1	0	T	28502858	G	T	28502858	2	4	27	1	0	0	0	0	0	0	0	1	3573	1115	39	3		3	CLN3	16	28502858	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	7311999	28502858	61851895	586	5654											
SETD1A	9739	broad.mit.edu	37	chr16	30990627	30990627	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctccttctctgccatcGaggtggtgccagccccggag	4	10	12	15	2	2	0	0	0	2	0	5	2	2	1	5	3	3	0	5	3	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:30990627G>T	ENST00000262519.8	+	14	4206	c.3520G>T	c.(3520-3522)Gag>Tag	p.E1174*		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1174	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTCTGCCATCGAGGTGGTGCC	0.711													13	39					0.0202918	0.020769	1	0	T	30990627	G	T	30990627	4	4	27	1	0	0	0	0	0	1	0	0	14217	1059	37	3	3570	3	SETD1A	16	30990627	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2487769	30990627	59364126	587	5655											
SETD1A	9739	broad.mit.edu	37	chr16	30991330	30991330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccctccgcccccaccccCgccgccaccgccccgcgcct	2	2	7	30	7	0	0	0	0	0	0	1	0	1	0	13	0	0	0	13	0	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:30991330C>T	ENST00000262519.8	+	14	4909	c.4223C>T	c.(4222-4224)cCg>cTg	p.P1408L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1408	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						cccccacccccgccgccaccg	0.692													6	5					0	0	0	0	T	30991330	C	T	30991330	3	4	27	1	0	0	0	0	1	0	0	0	14217	652	23	1	4273	1	SETD1A	16	30991330	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	703	30991330	59363423	588	5656											
ABCC12	94160	broad.mit.edu	37	chr16	48172225	48172225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcattcattgtctgaactCgcttgtctgtcaccaaaatt	10	15	5	11	1	5	1	3	1	2	0	6	1	5	1	1	0	1	1	1	0	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:48172225C>A	ENST00000311303.3	-	6	1238	c.893G>T	c.(892-894)cGa>cTa	p.R298L	ABCC12_ENST00000416054.1_Missense_Mutation_p.R298L|ABCC12_ENST00000448542.1_Missense_Mutation_p.R298L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	298	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGTCTGAACTCGCTTGTCTGT	0.418													35	55					3.11337e-16	4.74271e-16	1	0	A	48172225	C	A	48172225	3	1	27	1	0	0	0	0	1	0	0	0	52	884	31	3	3282	3	ABCC12	16	48172225	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	17180895	48172225	42182528	589	5657											
N4BP1	9683	broad.mit.edu	37	chr16	48595715	48595715	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctccttttctgacaaattCtctcattggaaagtgcctct	9	16	5	11	0	5	1	1	1	4	0	7	2	5	2	2	1	1	0	2	1	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:48595715C>G	ENST00000262384.3	-	2	1075	c.839G>C	c.(838-840)aGa>aCa	p.R280T	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	280					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CTGACAAATTCTCTCATTGGA	0.398													14	60					0	0	0	0	G	48595715	C	G	48595715	3	3	27	1	0	0	0	0	1	0	0	0	10179	913	32	2	1875	2	N4BP1	16	48595715	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	423490	48595715	41759038	590	5658											
NOD2	64127	broad.mit.edu	37	chr16	50746062	50746062	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggctcatccggagcctgtAcgagatgcaggaggagcggc	8	6	16	11	3	1	1	1	0	0	1	2	5	2	4	2	5	4	3	2	5	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:50746062A>T	ENST00000300589.2	+	4	2345	c.2240A>T	c.(2239-2241)tAc>tTc	p.Y747F		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	747					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CGGAGCCTGTACGAGATGCAG	0.622													32	43					0	0	0	0	T	50746062	A	T	50746062	3	4	27	1	0	0	0	0	1	0	0	0	10587	391	14	5	2254	5	NOD2	16	50746062	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	2150347	50746062	39608691	591	5659											
SALL1	6299	broad.mit.edu	37	chr16	51175728	51175728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctggaagtgccgctgccGcttttgttagcaaccggggc	5	9	14	13	4	0	0	0	0	0	0	0	1	0	1	4	3	4	5	4	3	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:51175728G>T	ENST00000440970.1	-	2	545	c.114C>A	c.(112-114)agC>agA	p.S38R	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S135R	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	135					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCCGCTGCCGCTTTTGTTAG	0.607													32	39					3.1745e-13	4.51945e-13	1	0	T	51175728	G	T	51175728	3	4	27	1	0	0	0	0	1	0	0	0	13895	1078	38	3	3577	3	SALL1	16	51175728	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	429666	51175728	39179025	592	5660											
MT1E	4493	broad.mit.edu	37	chr16	56660853	56660853	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagggctgcgtctgcaaaggGgcatcggagaagtgcagctg	9	6	17	9	2	1	1	0	0	1	1	2	2	1	1	0	4	4	5	0	4	2	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:56660853G>T	ENST00000306061.6	+	3	533	c.156G>T	c.(154-156)ggG>ggT	p.G52G	MT1E_ENST00000330439.6_3'UTR|MT1E_ENST00000568293.1_Silent_p.G30G	NM_175617.3	NP_783316.2	P04732	MT1E_HUMAN	metallothionein 1E	52	Alpha.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										TCTGCAAAGGGGCATCGGAGA	0.537													33	145					5.8336e-16	8.84231e-16	1	0	T	56660853	G	T	56660853	2	4	27	1	0	0	0	0	0	0	0	1	9969	1219	43	4		4	MT1E	16	56660853	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5485125	56660853	33693900	593	5661											
CES2	8824	broad.mit.edu	37	chr16	66977827	66977827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaacctacagcctgcggtgGgccgggctctgaaggcccac	7	6	14	14	2	1	2	0	2	1	0	1	2	1	2	4	4	4	1	4	4	3	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:66977827G>T	ENST00000317091.4	+	12	2755	c.1771G>T	c.(1771-1773)Ggc>Tgc	p.G591C	CES2_ENST00000417689.1_Missense_Mutation_p.G575C|RP11-361L15.4_ENST00000566869.1_RNA	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	527					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GCCTGCGGTGGGCCGGGCTCT	0.602													12	35					0.435327	0.437721	1	0	T	66977827	G	T	66977827	3	4	27	1	0	0	0	0	1	0	0	0	3299	1232	43	4	1817	4	CES2	16	66977827	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	10316974	66977827	23376926	594	5662											
RLTPR	146206	broad.mit.edu	37	chr16	67685183	67685183	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccgctgtgcgccaggccGaggatgccatccaaaatgcc	10	5	12	14	3	0	0	0	0	0	0	1	2	1	1	6	2	4	1	6	2	3	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:67685183G>T	ENST00000334583.6	+	23	2606	c.2278G>T	c.(2278-2280)Gag>Tag	p.E760*	RLTPR_ENST00000545661.1_Nonsense_Mutation_p.E724*	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	760										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCGCCAGGCCGAGGATGCCAT	0.612													21	63					2.39556e-15	3.57769e-15	1	0	T	67685183	G	T	67685183	4	4	27	1	0	0	0	0	0	1	0	0	13479	1059	37	3	2368	3	RLTPR	16	67685183	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	707356	67685183	22669570	595	5663											
VAC14	55697	broad.mit.edu	37	chr16	70721966	70721966	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctaggggagtcagctttctgGgacttgggggctgcctttag	5	12	16	8	0	2	0	1	0	1	0	2	2	2	2	1	5	2	2	1	5	2	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:70721966G>C	ENST00000261776.5	-	19	2474	c.2214C>G	c.(2212-2214)tcC>tcG	p.S738S	VAC14_ENST00000536184.2_Silent_p.S170S|VAC14_ENST00000571759.1_5'UTR	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	738					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CAGCTTTCTGGGACTTGGGGG	0.597													30	148					0	0	0	0	C	70721966	G	C	70721966	2	2	27	1	0	0	0	0	0	0	0	1	17207	1219	43	4		4	VAC14	16	70721966	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3036783	70721966	19632787	596	5664											
HYDIN	54768	broad.mit.edu	37	chr16	70894073	70894073	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagagatccagcagaaggaGtaggtgctattggttgggtt	10	11	15	5	0	1	2	1	0	0	2	2	4	2	3	1	4	2	5	1	4	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:70894073G>T	ENST00000393567.2	-	71	12177	c.12027C>A	c.(12025-12027)taC>taA	p.Y4009*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4009										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCAGAAGGAGTAGGTGCTAT	0.473													19	43					1.50039e-11	2.04375e-11	1	0	T	70894073	G	T	70894073	4	4	27	1	0	0	0	0	0	1	0	0	7520	1024	36	4	3402	4	HYDIN	16	70894073	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	172107	70894073	19460680	597	5665											
RFWD3	55159	broad.mit.edu	37	chr16	74678452	74678452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttacctggggacattttCgtacttgtcctttaagccac	7	15	7	12	1	0	0	0	0	0	0	3	1	2	1	4	2	3	1	4	2	3	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:74678452C>A	ENST00000361070.4	-	5	1071	c.974G>T	c.(973-975)cGa>cTa	p.R325L	RFWD3_ENST00000571750.1_Missense_Mutation_p.R325L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	325					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GGGACATTTTCGTACTTGTCC	0.468													17	66					1.02788e-11	1.40431e-11	1	0	A	74678452	C	A	74678452	3	1	27	1	0	0	0	0	1	0	0	0	13343	884	31	3	1386	3	RFWD3	16	74678452	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3784379	74678452	15676301	598	5666											
ZFP1	162239	broad.mit.edu	37	chr16	75203914	75203914	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgagtgtaacgaatgtgcAaaaaccttctttaagaagtc	15	12	8	6	1	1	2	0	1	1	1	2	3	1	2	1	0	3	2	1	0	7	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:75203914A>G	ENST00000393430.2	+	4	1030	c.906A>G	c.(904-906)gcA>gcG	p.A302A	ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000332307.4_Silent_p.A269A|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000570010.1_Silent_p.A302A			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						ACGAATGTGCAAAAACCTTCT	0.418													8	66					0	0	0	0	G	75203914	A	G	75203914	2	3	27	1	0	0	0	0	0	0	0	1	17731	117	5	5		5	ZFP1	16	75203914	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	525462	75203914	15150839	599	5667											
KARS	3735	broad.mit.edu	37	chr16	75665647	75665647	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatagtctgcataggccatgTagaactcacaggtggtgaac	12	9	12	8	0	2	2	1	1	1	1	2	3	2	2	1	3	3	2	1	3	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:75665647T>A	ENST00000319410.5	-	9	1227	c.1106A>T	c.(1105-1107)tAc>tTc	p.Y369F	KARS_ENST00000302445.3_Missense_Mutation_p.Y341F|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	341					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ATAGGCCATGTAGAACTCACA	0.498													48	166					0	0	0	0	A	75665647	T	A	75665647	3	1	27	1	0	0	0	0	1	0	0	0	8033	1638	57	5	799	5	KARS	16	75665647	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	461733	75665647	14689106	600	5668											
ADAMTS18	170692	broad.mit.edu	37	chr16	77356295	77356296	+	Frame_Shift_Ins	INS	-	-	T																															cagggagttccatctttcacINStttgccggacattgcaaaaa																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:77356295_77356296insT	ENST00000282849.5	-	14	2518_2519	c.2100_2101insA	c.(2098-2103)aatgaafs	p.NE700fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	700	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCATCTTTCACTTTGCCGGACA	0.411													20	118	---	---	---	---					T	77356296	-	T	77356295	7	5	27	1	0	1	1	0	0	0	0	0	263	565	20	0	1604	0	ADAMTS18	16	77356295	Frame_Shift_Ins	INS	-	TCGA-BA-A6DA-01A-31D-A31L-08	1690648	77356295	12998458	601	5669											
ANKRD11	29123	broad.mit.edu	37	chr16	89347383	89347383	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgactttgggcgacgggaggCcatagtctggggagtagtac	8	8	17	8	3	1	0	0	0	1	0	1	4	1	2	1	5	1	2	1	5	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:89347383C>A	ENST00000301030.4	-	9	6027	c.5567G>T	c.(5566-5568)gGc>gTc	p.G1856V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1856V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1856	Pro-rich.					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)		CGACGGGAGGCCATAGTCTGG	0.617													12	45					1.08611e-07	1.3307e-07	1	0	A	89347383	C	A	89347383	3	1	27	1	0	0	0	0	1	0	0	0	639	739	26	4	2444	4	ANKRD11	16	89347383	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	11991088	89347383	1007370	602	5670											
ANKRD11	29123	broad.mit.edu	37	chr16	89347570	89347570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggggtcctcctaatgtCgacagagaccgagcggtaaa	10	7	13	11	4	0	1	0	0	0	1	4	4	2	1	3	3	1	1	3	3	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:89347570C>A	ENST00000301030.4	-	9	5840	c.5380G>T	c.(5380-5382)Gac>Tac	p.D1794Y	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1794Y	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1794						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)		CTCCTAATGTCGACAGAGACC	0.587													21	63					5.35356e-11	7.1642e-11	1	0	A	89347570	C	A	89347570	3	1	27	1	0	0	0	0	1	0	0	0	639	884	31	3	2631	3	ANKRD11	16	89347570	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	187	89347570	1007183	603	5671											
OR1A1	8383	broad.mit.edu	37	chr17	3119621	3119621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccaagggcgtgctcaaggCcttctccacctgtggttccc	6	9	10	16	1	2	0	1	0	1	0	4	0	3	0	5	3	1	2	5	3	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:3119621C>T	ENST00000304094.1	+	1	707	c.707C>T	c.(706-708)gCc>gTc	p.A236V		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GTGCTCAAGGCCTTCTCCACC	0.478													40	113					0	0	0	0	T	3119621	C	T	3119621	3	4	27	1	0	0	0	0	1	0	0	0	11020	739	26	4	709	4	OR1A1	17	3119621	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08		3119621	78075589	604	5672											
TP53	7157	broad.mit.edu	37	chr17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggacaggcacaaacacgcaCctcaaagctgttccgtccca	13	5	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs121912657		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:7577124C>T	ENST00000420246.2	-	8	946	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000269305.4_Missense_Mutation_p.V272M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAACACGCACCTCAAAGCTG	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	17					0	0	0	0	T	7577124	C	T	7577124	3	4	27	1	0	0	0	0	1	0	0	0	16476	507	18	4	472	4	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	4457503	7577124	73618086	605	5673											
DHRS7C	201140	broad.mit.edu	37	chr17	9674818	9674818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagttacccctcctccGggacattgagcttctccttc	5	12	7	17	1	1	1	0	1	1	0	5	2	3	2	6	1	3	3	6	1	1	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:9674818G>T	ENST00000330255.4	-	6	938	c.926C>A	c.(925-927)cCg>cAg	p.P309Q	DHRS7C_ENST00000571134.1_Missense_Mutation_p.P308Q	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	309						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CCCCTCCTCCGGGACATTGAG	0.602													4	18					0.000602214	0.00064528	1	0	T	9674818	G	T	9674818	3	4	27	1	0	0	0	0	1	0	0	0	4534	1116	39	3	16	3	DHRS7C	17	9674818	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2097694	9674818	71520392	606	5674											
MYH2	4620	broad.mit.edu	37	chr17	10424617	10424617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactcttcacttatgacttTtgtgtgaacctcccggctct	6	16	6	13	1	4	2	2	2	2	0	5	2	5	2	2	1	1	1	2	1	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:10424617T>C	ENST00000245503.5	-	40	6190	c.5806A>G	c.(5806-5808)Aaa>Gaa	p.K1936E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.K703E|MYH2_ENST00000397183.2_Missense_Mutation_p.K1936E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1936					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTATGACTTTTGTGTGAACC	0.502													39	107					0	0	0	0	C	10424617	T	C	10424617	3	2	27	1	0	0	0	0	1	0	0	0	10105	1850	64	5	23	5	MYH2	17	10424617	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	749799	10424617	70770593	607	5675											
MYH2	4620	broad.mit.edu	37	chr17	10426819	10426819	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgggagacccaccctggcCtccagtttctggatctgctt	6	12	10	13	0	2	1	0	0	2	1	3	3	3	2	4	3	1	2	4	3	0	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:10426819C>T	ENST00000245503.5	-	37	5850	c.5466G>A	c.(5464-5466)gaG>gaA	p.E1822E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.E1822E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1822					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCACCCTGGCCTCCAGTTTCT	0.512													31	100					0	0	0	0	T	10426819	C	T	10426819	2	4	27	1	0	0	0	0	0	0	0	1	10105	680	24	4		4	MYH2	17	10426819	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2202	10426819	70768391	608	5676											
RNF112	7732	broad.mit.edu	37	chr17	19316364	19316364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgaagcaccctctggccagGgacaccccagtctgcctcct	7	7	9	18	0	2	1	0	1	2	0	3	2	3	2	6	2	2	1	6	2	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:19316364G>T	ENST00000461366.1	+	4	710	c.495G>T	c.(493-495)agG>agT	p.R165S	RNF112_ENST00000580109.1_Intron|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	165							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTCTGGCCAGGGACACCCCAG	0.647													5	26					0.00116845	0.00124037	1	0	T	19316364	G	T	19316364	3	4	27	1	0	0	0	0	1	0	0	0	13511	1223	43	4	219	4	RNF112	17	19316364	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	8889545	19316364	61878846	609	5677											
KIAA0100	9703	broad.mit.edu	37	chr17	26943725	26943725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaagcccatcattctgTggaagaactggtgtgtcagc	13	9	11	8	0	3	2	2	0	1	2	3	3	3	3	1	2	3	0	1	2	4	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:26943725T>C	ENST00000528896.2	-	35	6142	c.6068A>G	c.(6067-6069)cAc>cGc	p.H2023R	KIAA0100_ENST00000544884.1_Missense_Mutation_p.H1880R|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000579924.2_5'UTR|KIAA0100_ENST00000389003.3_Missense_Mutation_p.H1880R	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2023						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CATCATTCTGTGGAAGAACTG	0.423													21	65					0	0	0	0	C	26943725	T	C	26943725	3	2	27	1	0	0	0	0	1	0	0	0	8205	1696	59	5	659	5	KIAA0100	17	26943725	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	7627361	26943725	54251485	610	5678											
DDX52	11056	broad.mit.edu	37	chr17	35985972	35985972	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacacactgatgacattgtCcaggttgagtttgcaccact	10	11	10	10	0	0	3	0	3	0	0	1	4	1	4	2	2	1	3	2	2	0	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:35985972C>A	ENST00000349699.2	-	8	1148	c.1105G>T	c.(1105-1107)Gac>Tac	p.D369Y	DDX52_ENST00000394367.3_Missense_Mutation_p.D261Y	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	369	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				ATGACATTGTCCAGGTTGAGT	0.388													20	65					3.10358e-05	3.48914e-05	1	0	A	35985972	C	A	35985972	3	1	27	1	0	0	0	0	1	0	0	0	4402	855	30	2	726	2	DDX52	17	35985972	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	9042247	35985972	45209238	611	5679											
KRTAP9-3	83900	broad.mit.edu	37	chr17	39388967	39388967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgtgaccagctgctgcCagccttcctgctgtagcaca	6	11	10	14	0	1	1	0	1	1	0	2	1	2	1	4	0	6	5	4	0	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:39388967C>A	ENST00000411528.2	+	1	253	c.214C>A	c.(214-216)Cag>Aag	p.Q72K		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	72	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CAGCTGCTGCCAGCCTTCCTG	0.597													20	68					2.37509e-13	3.40256e-13	1	0	A	39388967	C	A	39388967	3	1	27	1	0	0	0	0	1	0	0	0	8627	595	21	4	216	4	KRTAP9-3	17	39388967	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3402995	39388967	41806243	612	5680											
KRT35	3886	broad.mit.edu	37	chr17	39635232	39635232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggtcaccaagttggcagcGcagtgagttcacttcctata	9	10	11	11	2	2	1	2	1	0	0	3	1	3	1	2	2	1	4	2	2	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:39635232G>T	ENST00000246639.2	-	4	769	c.637C>A	c.(637-639)Cgc>Agc	p.R213S	KRT35_ENST00000393989.1_Missense_Mutation_p.R243S			Q92764	KRT35_HUMAN	keratin 35	243	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				AGTTGGCAGCGCAGTGAGTTC	0.552													15	43					1.05317e-09	1.36152e-09	1	0	T	39635232	G	T	39635232	3	4	27	1	0	0	0	0	1	0	0	0	8524	1087	38	3	656	3	KRT35	17	39635232	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	246265	39635232	41559978	613	5681											
ACLY	47	broad.mit.edu	37	chr17	40042498	40042498	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggtacagtttggaggccaGgatgttgtccagcatcccac	8	9	13	11	1	0	0	0	0	0	0	2	2	2	2	3	4	2	4	3	4	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:40042498G>A	ENST00000352035.2	-	18	2069	c.1939C>T	c.(1939-1941)Ctg>Ttg	p.L647L	ACLY_ENST00000353196.1_Silent_p.L637L|ACLY_ENST00000590151.1_Silent_p.L647L|ACLY_ENST00000537919.1_Silent_p.L376L|ACLY_ENST00000393896.2_Silent_p.L637L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	647					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TTGGAGGCCAGGATGTTGTCC	0.562													27	77					0	0	0	0	A	40042498	G	A	40042498	2	1	27	1	0	0	0	0	0	0	0	1	143	991	35	4		4	ACLY	17	40042498	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	407266	40042498	41152712	614	5682											
KCNH4	23415	broad.mit.edu	37	chr17	40315277	40315277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggagcggggccttggCagttcaggcctcctgctgaa	5	8	16	12	1	1	1	1	1	0	0	2	2	2	2	4	5	2	3	4	5	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:40315277C>T	ENST00000264661.3	-	14	2885	c.2553G>A	c.(2551-2553)ctG>ctA	p.L851L	KCNH4_ENST00000607371.1_Silent_p.L851L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	851					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGGCCTTGGCAGTTCAGGCC	0.597													23	51					0	0	0	0	T	40315277	C	T	40315277	2	4	27	1	0	0	0	0	0	0	0	1	8087	697	25	4		4	KCNH4	17	40315277	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	272779	40315277	40879933	615	5683											
ARHGAP27	201176	broad.mit.edu	37	chr17	43483119	43483119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctcgttctcggcctcgtCctcccaggccgtctcgcccg	1	9	12	19	6	2	0	0	0	2	0	8	0	4	0	5	3	0	2	5	3	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:43483119C>A	ENST00000532038.1	-	2	523	c.388G>T	c.(388-390)Gac>Tac	p.D130Y	ARHGAP27_ENST00000442348.1_Missense_Mutation_p.D330Y|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.D330Y|ARHGAP27_ENST00000455881.1_5'UTR|ARHGAP27_ENST00000376922.2_5'UTR|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.D330Y|ARHGAP27_ENST00000528384.1_5'UTR			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	330					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TCGGCCTCGTCCTCCCAGGCC	0.692													8	16					0.00307968	0.00322431	1	0	A	43483119	C	A	43483119	3	1	27	1	0	0	0	0	1	0	0	0	878	870	30	2		2	ARHGAP27	17	43483119	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3167842	43483119	37712091	616	5684											
LRRC46	90506	broad.mit.edu	37	chr17	45914284	45914284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcccttctgccactcctgCgcaaggggaggagacagtcc	8	6	12	15	1	1	1	0	0	1	1	3	3	3	2	4	3	3	1	4	3	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:45914284C>A	ENST00000269025.4	+	8	1127	c.764C>A	c.(763-765)gCg>gAg	p.A255E		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	255										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GCCACTCCTGCGCAAGGGGAG	0.647													30	120					1.08312e-15	1.62824e-15	1	0	A	45914284	C	A	45914284	3	1	27	1	0	0	0	0	1	0	0	0	9067	768	27	3	794	3	LRRC46	17	45914284	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2431165	45914284	35280926	617	5685											
HOXB9	3219	broad.mit.edu	37	chr17	46700292	46700292	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgctccttattcattttCttcattttcatccgccggtt	4	19	4	14	2	4	0	3	0	1	0	6	0	6	0	4	1	1	2	4	1	1	8			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:46700292C>T	ENST00000311177.5	-	2	930	c.723G>A	c.(721-723)aaG>aaA	p.K241K	HOXB9_ENST00000550387.1_3'UTR|HOXB7_ENST00000567101.1_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	241					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						TATTCATTTTCTTCATTTTCA	0.468													16	66					0	0	0	0	T	46700292	C	T	46700292	2	4	27	1	0	0	0	0	0	0	0	1	7358	912	32	2		2	HOXB9	17	46700292	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	786008	46700292	34494918	618	5686											
EPX	8288	broad.mit.edu	37	chr17	56270806	56270806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcaaacaaccggtagcagCcaccaggacagttgttcggg	11	7	11	12	2	1	0	1	0	0	0	2	1	1	1	3	3	4	4	3	3	3	4	rs144925948		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:56270806C>A	ENST00000225371.5	+	3	355	c.245C>A	c.(244-246)gCc>gAc	p.A82D		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	82					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCGGTAGCAGCCACCAGGACA	0.582													39	119					5.73237e-09	7.28704e-09	1	0	A	56270806	C	A	56270806	3	1	27	1	0	0	0	0	1	0	0	0	5238	739	26	4	255	4	EPX	17	56270806	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	9570514	56270806	24924404	619	5687											
MPO	4353	broad.mit.edu	37	chr17	56356775	56356775	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacggttggaggcccccagCgtggggctgcgtctgcaggg	4	6	19	12	3	1	0	0	0	1	0	1	1	1	1	2	6	3	4	2	6	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:56356775C>A	ENST00000340482.3	-	4	833	c.657G>T	c.(655-657)acG>acT	p.T219T	MPO_ENST00000225275.3_Silent_p.T187T			P05164	PERM_HUMAN	myeloperoxidase	187					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	AGGCCCCCAGCGTGGGGCTGC	0.706													8	22					1.58986e-06	1.87019e-06	1	0	A	56356775	C	A	56356775	2	1	27	1	0	0	0	0	0	0	0	1	9802	755	27	3		3	MPO	17	56356775	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	85969	56356775	24838435	620	5688											
TEX14	56155	broad.mit.edu	37	chr17	56651595	56651595	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactcctttgatgtctcttcTtgttcatcttcagtactgtg	5	19	7	10	0	5	1	2	1	3	0	7	2	6	1	1	0	1	2	1	0	1	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:56651595T>C	ENST00000389934.3	-	23	3573	c.3456A>G	c.(3454-3456)caA>caG	p.Q1152Q	TEX14_ENST00000240361.8_Silent_p.Q1158Q|TEX14_ENST00000349033.5_Silent_p.Q1112Q	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1158						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGTCTCTTCTTGTTCATCTT	0.378													15	61					0	0	0	0	C	56651595	T	C	56651595	2	2	27	1	0	0	0	0	0	0	0	1	15872	1606	56	5		5	TEX14	17	56651595	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	294820	56651595	24543615	621	5689											
TRIM37	4591	broad.mit.edu	37	chr17	57158574	57158574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggtttaaaggtatgtcCgccatgctatttaaattaga	14	13	8	6	1	0	1	0	0	0	1	1	1	1	1	2	2	1	3	2	2	8	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:57158574C>G	ENST00000376149.3	-	6	819	c.10G>C	c.(10-12)Gga>Cga	p.G4R	TRIM37_ENST00000262294.7_Missense_Mutation_p.G126R|TRIM37_ENST00000393065.2_Missense_Mutation_p.G92R|TRIM37_ENST00000393066.3_Missense_Mutation_p.G126R			O94972	TRI37_HUMAN	tripartite motif containing 37	126						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AAGGTATGTCCGCCATGCTAT	0.383									Mulibrey Nanism				25	69					0	0	0	0	G	57158574	C	G	57158574	3	3	27	1	0	0	0	0	1	0	0	0	16606	661	23	3	2602	3	TRIM37	17	57158574	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	506979	57158574	24036636	622	5690											
CCDC47	57003	broad.mit.edu	37	chr17	61830158	61830158	+	Splice_Site	SNP	C	C	A																															tagctttaaaggctgaccttCcctgtcataaaagaaaaggc																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:61830158C>A	ENST00000225726.5	-	10	1418	c.1034_splice	c.e10-1	p.E346_splice	CCDC47_ENST00000582252.1_Splice_Site_p.E346_splice|CCDC47_ENST00000403162.3_Splice_Site_p.E346_splice	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	346						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						GGCTGACCTTCCCTGTCATAA	0.388											OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	17	50					2.35188e-11	3.19409e-11	1	0	A	61830158	C	A	61830158	5	1	27	1	0	0	0	0	0	0	1	0	2845	869	30	2	431	2	CCDC47	17	61830158	Splice_Site	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	4671584	61830158	19365052	623	5691	57	2									
CCDC47	57003	broad.mit.edu	37	chr17	61830159	61830159	+	Splice_Site	SNP	C	C	A																															agctttaaaggctgaccttcCctgtcataaaagaaaaggca																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:61830159C>A	ENST00000225726.5	-	10	1417	c.1034_splice	c.e10-1	p.E345_splice	CCDC47_ENST00000582252.1_Splice_Site_p.E345_splice|CCDC47_ENST00000403162.3_Splice_Site_p.E345_splice	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	345						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						GCTGACCTTCCCTGTCATAAA	0.383											OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	18	50					1.56452e-12	2.18317e-12	1	0	A	61830159	C	A	61830159	5	1	27	1	0	0	0	0	0	0	1	0	2845	637	22	4	432	4	CCDC47	17	61830159	Splice_Site	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1	61830159	19365051	624	5692	57	2									
PRKCA	5578	broad.mit.edu	37	chr17	64785040	64785040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagcatgccttcttccggagGatcgactgggaaaaactgga	11	8	13	9	2	1	0	0	0	1	0	3	6	2	4	2	4	3	1	2	4	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:64785040G>A	ENST00000413366.3	+	16	1823	c.1797G>A	c.(1795-1797)agG>agA	p.R599R		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	599	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.R599I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TCTTCCGGAGGATCGACTGGG	0.567													10	50					0	0	0	0	A	64785040	G	A	64785040	2	1	27	1	0	0	0	0	0	0	0	1	12587	1165	41	2		2	PRKCA	17	64785040	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2954881	64785040	16410170	625	5693											
KCNJ2	3759	broad.mit.edu	37	chr17	68171335	68171335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgctttgtgaagaaagatgGccactgtaatgttcagttca	11	12	10	8	1	2	3	2	1	0	2	2	3	2	3	2	1	0	4	2	1	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:68171335G>T	ENST00000243457.3	+	2	538	c.155G>T	c.(154-156)gGc>gTc	p.G52V	KCNJ2_ENST00000535240.1_Missense_Mutation_p.G52V	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	52					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AAGAAAGATGGCCACTGTAAT	0.527													12	64					0.00010058	0.000110759	1	0	T	68171335	G	T	68171335	3	4	27	1	0	0	0	0	1	0	0	0	8104	1203	42	4	157	4	KCNJ2	17	68171335	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3386295	68171335	13023875	626	5694											
BAHCC1	57597	broad.mit.edu	37	chr17	79428113	79428113	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggccctgttccccgtgCacagcgtggccacacccata	7	6	11	17	3	0	0	0	0	0	0	1	1	1	0	5	2	2	2	5	2	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:79428113C>A	ENST00000307745.7	+	30	6424	c.6424C>A	c.(6424-6426)Cac>Aac	p.H2142N	RP11-1055B8.8_ENST00000572590.1_RNA																							GTTCCCCGTGCACAGCGTGGC	0.706													6	12					0.0293803	0.0298043	1	0	A	79428113	C	A	79428113	3	1	27	1	0	0	0	0	1	0	0	0	1300	710	25	4	6357	4	BAHCC1	17	79428113	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	11256778	79428113	1767097	627	5695											
LRRC30	339291	broad.mit.edu	37	chr18	7231139	7231139	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actagaagggaaggtacaatGggggccaggcagtcaagggc	13	4	17	7	0	1	1	1	0	0	1	1	2	1	2	1	6	1	2	1	6	6	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:7231139G>A	ENST00000383467.2	+	1	17	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	1										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AAGGTACAATGGGGGCCAGGC	0.602													13	52					0	0	0	0	A	7231139	G	A	7231139	1	1	27	1	0	0	0	0	0	0	0	0	9049	1348	47	4		4	LRRC30	18	7231139	Translation_Start_Site	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08		7231139	70846109	628	5696											
PPP4R1	9989	broad.mit.edu	37	chr18	9549283	9549283	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaaggttagcagatgcggCatgagatgcacagcaaactg	13	7	13	8	1	0	2	0	1	0	2	0	3	0	2	0	2	5	6	0	2	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:9549283C>A	ENST00000400556.3	-	19	2674	c.2601G>T	c.(2599-2601)atG>atT	p.M867I	PPP4R1_ENST00000400555.3_Missense_Mutation_p.M850I	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	867					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GCAGATGCGGCATGAGATGCA	0.478													30	104					1.30897e-18	2.06632e-18	1	0	A	9549283	C	A	9549283	3	1	27	1	0	0	0	0	1	0	0	0	12479	710	25	4	259	4	PPP4R1	18	9549283	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2318144	9549283	68527965	629	5697											
APCDD1	147495	broad.mit.edu	37	chr18	10471535	10471535	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcttgcccagctgtgaagTaaggtcaggcccagagttca	9	11	11	10	0	3	2	2	1	1	1	3	2	3	2	2	2	2	3	2	2	2	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:10471535T>G	ENST00000355285.4	+	3	605	c.251T>G	c.(250-252)gTa>gGa	p.V84G	APCDD1_ENST00000578882.1_Missense_Mutation_p.V84G	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	84					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		AGCTGTGAAGTAAGGTCAGGC	0.403													18	49					0	0	0	0	G	10471535	T	G	10471535	3	3	27	1	0	0	0	0	1	0	0	0	766	1638	57	5	261	5	APCDD1	18	10471535	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	922252	10471535	67605713	630	5698											
POTEC	388468	broad.mit.edu	37	chr18	14542630	14542630	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccaggcccagttacctcttTtgcttgtccctcttgttcat	4	16	6	15	0	3	0	1	0	2	0	4	0	4	0	4	1	2	3	4	1	1	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:14542630T>C	ENST00000358970.5	-	1	515	c.516A>G	c.(514-516)caA>caG	p.Q172Q	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	172										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GTTACCTCTTTTGCTTGTCCC	0.592													38	116					0	0	0	0	C	14542630	T	C	14542630	2	2	27	1	0	0	0	0	0	0	0	1	12334	1838	64	5		5	POTEC	18	14542630	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	4071095	14542630	63534618	631	5699											
LAMA3	3909	broad.mit.edu	37	chr18	21489242	21489242	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaactaattcagcaggccAgagatgctgccagtaaggtg	13	7	13	8	0	1	2	1	0	0	2	1	4	1	2	2	2	4	3	2	2	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:21489242A>C	ENST00000313654.9	+	55	7382	c.7141A>C	c.(7141-7143)Aga>Cga	p.R2381R	LAMA3_ENST00000399516.3_Silent_p.R2325R|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.R716R|LAMA3_ENST00000269217.6_Silent_p.R772R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2381	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGCAGGCCAGAGATGCTGC	0.433													13	43					0	0	0	0	C	21489242	A	C	21489242	2	2	27	1	0	0	0	0	0	0	0	1	8660	180	7	5		5	LAMA3	18	21489242	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	6946612	21489242	56588006	632	5700											
SS18	6760	broad.mit.edu	37	chr18	23612435	23612435	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttggtctatatcctccataCtgctgaccttgtccctgtgg	5	15	9	12	0	1	1	0	1	1	0	4	1	4	1	4	2	2	2	4	2	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:23612435C>T	ENST00000415083.2	-	10	1213	c.1158G>A	c.(1156-1158)caG>caA	p.Q386Q	SS18_ENST00000539849.1_Silent_p.Q304Q|SS18_ENST00000545952.1_Silent_p.Q303Q|SS18_ENST00000542743.1_Silent_p.Q303Q|SS18_ENST00000542420.2_Silent_p.Q363Q|SS18_ENST00000269137.7_Silent_p.Q355Q	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	386	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					ATCCTCCATACTGCTGACCTT	0.493			T	"SSX1,  SSX2"	synovial sarcoma								24	75					0	0	0	0	T	23612435	C	T	23612435	2	4	27	1	0	0	0	0	0	0	0	1	15265	564	20	4		4	SS18	18	23612435	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2123193	23612435	54464813	633	5701											
ASXL3	80816	broad.mit.edu	37	chr18	31325740	31325740	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggattgggagaggttagTctttcctcagcacctcacca	10	10	11	10	0	3	1	2	0	1	1	4	3	4	2	3	3	1	2	3	3	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:31325740T>C	ENST00000269197.5	+	12	5928	c.5928T>C	c.(5926-5928)agT>agC	p.S1976S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1976					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGAGGTTAGTCTTTCCTCAG	0.507													26	98					0	0	0	0	C	31325740	T	C	31325740	2	2	27	1	0	0	0	0	0	0	0	1	1072	1664	58	5		5	ASXL3	18	31325740	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	7713305	31325740	46751508	634	5702											
SEC11C	90701	broad.mit.edu	37	chr18	56825879	56825879	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagtatgctcttttggctGtaatgggtgcatatgtgtta	7	17	11	6	0	1	0	0	0	1	0	2	0	2	0	1	2	2	6	1	2	4	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:56825879G>C	ENST00000587834.1	+	6	1013	c.541G>C	c.(541-543)Gta>Cta	p.V181L	SEC11C_ENST00000588875.1_Silent_p.L161L	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	181					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				TCTTTTGGCTGTAATGGGTGC	0.348													8	41					0	0	0	0	C	56825879	G	C	56825879	3	2	27	1	0	0	0	0	1	0	0	0	14066	1377	48	4	563	4	SEC11C	18	56825879	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	25500139	56825879	21251369	635	5703											
CDH19	28513	broad.mit.edu	37	chr18	64239253	64239253	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataaataagtacctggccGatgtgatgactagtcgtatt	14	12	9	6	2	0	2	0	2	0	0	1	3	0	2	2	1	1	2	2	1	7	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:64239253G>T	ENST00000262150.2	-	2	481	c.189C>A	c.(187-189)atC>atA	p.I63I	CDH19_ENST00000540086.1_Silent_p.I63I	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	63	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GTACCTGGCCGATGTGATGAC	0.373													6	27					2.7689e-08	3.45734e-08	1	0	T	64239253	G	T	64239253	2	4	27	1	0	0	0	0	0	0	0	1	3133	1048	37	3		3	CDH19	18	64239253	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	7413374	64239253	13837995	636	5704											
DSEL	92126	broad.mit.edu	37	chr18	65180507	65180507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctgaaaatgaactatgtCatacacagctcgtcccccca	12	9	7	13	1	1	2	1	2	0	0	3	2	2	2	3	1	3	2	3	1	5	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:65180507C>T	ENST00000310045.7	-	2	2842	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	447						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGAACTATGTCATACACAGCT	0.463													18	63					0	0	0	0	T	65180507	C	T	65180507	3	4	27	1	0	0	0	0	1	0	0	0	4811	826	29	2	2303	2	DSEL	18	65180507	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	941254	65180507	12896741	637	5705											
CCDC102B	79839	broad.mit.edu	37	chr18	66542022	66542022	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttgtgagttaagagcagaGgtaagacactgggtaaagag	15	9	14	3	0	0	5	0	1	0	4	0	5	0	5	0	2	1	4	0	2	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:66542022G>T	ENST00000360242.5	+	5	1170	c.1053_splice	c.e5+1	p.E351_splice	CCDC102B_ENST00000319445.6_Splice_Site_p.E351_splice|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Splice_Site_p.E351_splice|CCDC102B_ENST00000358653.5_Splice_Site_p.E351_splice	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	351										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TAAGAGCAGAGGTAAGACACT	0.358													14	51					0.006122	0.00635854	1	0	T	66542022	G	T	66542022	5	4	27	1	0	0	0	0	0	0	1	0	2762	1014	35	4	1067	4	CCDC102B	18	66542022	Splice_Site	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1361515	66542022	11535226	638	5706											
ZNF516	9658	broad.mit.edu	37	chr18	74154296	74154296	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctcagctcgggcttgcCgttctccacgcaggcctcgc	3	8	14	16	4	2	0	1	0	1	0	5	0	2	0	3	4	2	5	3	4	0	2	rs12961584		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:74154296C>A	ENST00000443185.2	-	3	1032	c.715G>T	c.(715-717)Ggc>Tgc	p.G239C	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	239			G -> S (in dbSNP:rs12961584).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TCGGGCTTGCCGTTCTCCACG	0.692													3	10					1	1	1	0	A	74154296	C	A	74154296	3	1	27	1	0	0	0	0	1	0	0	0	18055	652	23	3	2797	3	ZNF516	18	74154296	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	7612274	74154296	3922952	639	5707											
CREB3L3	84699	broad.mit.edu	37	chr19	4168375	4168375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagtgctgaaaaaaatcCgccggaaaatccggaacaag	17	4	11	9	4	0	1	0	1	0	0	2	4	2	3	3	2	3	1	3	2	7	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:4168375C>T	ENST00000078445.2	+	6	889	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	CREB3L3_ENST00000602257.1_Missense_Mutation_p.R246C|CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000252587.3_Missense_Mutation_p.R188C|CREB3L3_ENST00000595923.1_Missense_Mutation_p.R247C	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	248					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAAAAAATCCGCCGGAAAAT	0.552													12	37					0	0	0	0	T	4168375	C	T	4168375	3	4	27	1	0	0	0	0	1	0	0	0	3888	652	23	1	764	1	CREB3L3	19	4168375	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08		4168375	54960608	640	5708											
SEMA6B	10501	broad.mit.edu	37	chr19	4548115	4548115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggaaggcagccagcaggcCccccgaagctgcgtccagct	8	3	15	15	2	0	0	0	0	0	0	1	2	1	1	5	4	5	4	5	4	2	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:4548115C>T	ENST00000586582.1	-	14	1835	c.1525G>A	c.(1525-1527)Ggc>Agc	p.G509S	SEMA6B_ENST00000586965.1_Missense_Mutation_p.G509S|SEMA6B_ENST00000301293.3_Missense_Mutation_p.G509S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	509	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCAGGCCCCCCGAAGCT	0.692													7	14					0	0	0	0	T	4548115	C	T	4548115	3	4	27	1	0	0	0	0	1	0	0	0	14127	623	22	4	1157	4	SEMA6B	19	4548115	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	379740	4548115	54580868	641	5709											
C3	718	broad.mit.edu	37	chr19	6710813	6710813	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcctggccgggctctCgcacctggcgtcccgccttc	2	8	12	19	4	1	0	0	0	1	0	5	0	3	0	6	4	0	2	6	4	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:6710813C>A	ENST00000245907.6	-	13	1615	c.1523G>T	c.(1522-1524)cGa>cTa	p.R508L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	508					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCCGGGCTCTCGCACCTGGCG	0.657													12	30					5.50884e-06	6.29385e-06	1	0	A	6710813	C	A	6710813	3	1	27	1	0	0	0	0	1	0	0	0	2224	884	31	3	3584	3	C3	19	6710813	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2162698	6710813	52418170	642	5710											
ICAM1	3383	broad.mit.edu	37	chr19	10394801	10394801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttccctggacgggctgttcCcagtctcggaggcccaggtc	4	9	14	14	2	1	0	0	0	1	0	5	2	3	2	3	5	0	3	3	5	0	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:10394801C>T	ENST00000264832.3	+	4	1055	c.730C>T	c.(730-732)Cca>Tca	p.P244S	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	244	Ig-like C2-type 3.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CGGGCTGTTCCCAGTCTCGGA	0.647													6	55					0	0	0	0	T	10394801	C	T	10394801	3	4	27	1	0	0	0	0	1	0	0	0	7532	623	22	4	744	4	ICAM1	19	10394801	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3683988	10394801	48734182	643	5711											
ICAM5	7087	broad.mit.edu	37	chr19	10403431	10403431	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggggcagcccgcccagcttCagctaaatgccaccgagaac	10	4	11	16	3	1	1	1	0	0	1	1	2	1	1	4	2	5	3	4	2	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:10403431C>T	ENST00000221980.4	+	5	1168	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	369	Ig-like C2-type 4.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGCCCAGCTTCAGCTAAATGC	0.642													4	42					0	0	0	0	T	10403431	C	T	10403431	4	4	27	1	0	0	0	0	0	1	0	0	7536	827	29	2	1123	2	ICAM5	19	10403431	Nonsense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	8630	10403431	48725552	644	5712											
CCDC105	126402	broad.mit.edu	37	chr19	15132649	15132649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttcacctggagaccgCagaaaagctggacagacccc	14	4	11	12	1	1	3	1	0	0	3	1	6	1	4	4	2	1	3	4	2	3	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:15132649C>T	ENST00000292574.3	+	6	1251	c.1169C>T	c.(1168-1170)gCa>gTa	p.A390V		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	390					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CTGGAGACCGCAGAAAAGCTG	0.652													28	85					0	0	0	0	T	15132649	C	T	15132649	3	4	27	1	0	0	0	0	1	0	0	0	2765	710	25	4	1191	4	CCDC105	19	15132649	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	4729218	15132649	43996334	645	5713											
NWD1	284434	broad.mit.edu	37	chr19	16860285	16860285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggccaatcaccaggtcCtcacacgcctccgtgagctg	8	7	11	15	2	2	2	2	2	0	0	4	2	4	2	5	2	1	1	5	2	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:16860285C>T	ENST00000524140.2	+	6	1250	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	NWD1_ENST00000549814.1_Missense_Mutation_p.L278F|NWD1_ENST00000523826.1_Missense_Mutation_p.L72F|NWD1_ENST00000552788.1_Missense_Mutation_p.L278F|NWD1_ENST00000339803.6_Missense_Mutation_p.L143F|NWD1_ENST00000379808.3_Missense_Mutation_p.L278F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	278							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCACCAGGTCCTCACACGCCT	0.607													5	22					0	0	0	0	T	16860285	C	T	16860285	3	4	27	1	0	0	0	0	1	0	0	0	10852	681	24	4	433	4	NWD1	19	16860285	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1727636	16860285	42268698	646	5714											
JUND	3727	broad.mit.edu	37	chr19	18391494	18391494	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgctccgccttgatgcgCtcctgcgtgtccatgtcgat	3	13	11	14	5	0	1	0	1	0	0	4	2	3	1	4	0	3	2	4	0	0	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:18391494C>A	ENST00000252818.3	-	1	938	c.801G>T	c.(799-801)gaG>gaT	p.E267D		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	267					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						CCTTGATGCGCTCCTGCGTGT	0.682													10	15					6.72482e-11	8.9599e-11	1	0	A	18391494	C	A	18391494	3	1	27	1	0	0	0	0	1	0	0	0	8024	796	28	4	246	4	JUND	19	18391494	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1531209	18391494	40737489	647	5715											
MEF2B	100271849	broad.mit.edu	37	chr19	19257421	19257421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtccgggagttgcagTggagcaggggttctgcaggc	5	8	21	7	1	1	0	0	0	1	0	2	2	2	2	1	7	3	5	1	7	0	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:19257421T>C	ENST00000602424.2	-	9	1438	c.712A>G	c.(712-714)Act>Gct	p.T238A	MEF2B_ENST00000409224.1_Missense_Mutation_p.T241A|MEF2B_ENST00000410050.1_Missense_Mutation_p.T238A|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.T238A|MEF2B_ENST00000162023.5_Missense_Mutation_p.T238A|MEF2B_ENST00000424583.2_Missense_Mutation_p.T238A|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.T255A|MEF2B_ENST00000409447.2_Missense_Mutation_p.H193R	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GGAGTTGCAGTGGAGCAGGGG	0.672													7	17					0	0	0	0	C	19257421	T	C	19257421	3	2	27	1	0	0	0	0	1	0	0	0	9525	1696	59	5	406	5	MEF2B	19	19257421	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	865927	19257421	39871562	648	5716											
PBX4	80714	broad.mit.edu	37	chr19	19681102	19681102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgtgcgtggtgaactcacGacaggcctggggtgggagca	8	6	18	9	3	1	1	1	1	0	0	1	4	1	2	1	5	3	1	1	5	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:19681102G>A	ENST00000251203.8	-	4	734	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	150							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GTGAACTCACGACAGGCCTGG	0.662													7	20					0	0	0	0	A	19681102	G	A	19681102	3	1	27	1	0	0	0	0	1	0	0	0	11566	1058	37	1	696	1	PBX4	19	19681102	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	423681	19681102	39447881	649	5717											
ZNF429	353088	broad.mit.edu	37	chr19	21720496	21720496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatgtggcaaagcttttaaCcggtcctcaagacttactca	12	11	8	10	1	2	1	2	0	0	1	3	2	3	1	2	2	3	2	2	2	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:21720496C>G	ENST00000358491.4	+	4	1849	c.1641C>G	c.(1639-1641)aaC>aaG	p.N547K	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAGCTTTTAACCGGTCCTCAA	0.373													15	34					0	0	0	0	G	21720496	C	G	21720496	3	3	27	1	0	0	0	0	1	0	0	0	17997	506	18	4	1655	4	ZNF429	19	21720496	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2039394	21720496	37408487	650	5718											
ZNF429	353088	broad.mit.edu	37	chr19	21720669	21720669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggcaaagcttttaatcggtCctcaagacttactcaacata	13	12	6	10	1	2	1	2	0	0	1	4	1	3	1	1	2	3	2	1	2	6	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:21720669C>T	ENST00000358491.4	+	4	2022	c.1814C>T	c.(1813-1815)tCc>tTc	p.S605F	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTTAATCGGTCCTCAAGACTT	0.368													9	47					0	0	0	0	T	21720669	C	T	21720669	3	4	27	1	0	0	0	0	1	0	0	0	17997	855	30	2	1828	2	ZNF429	19	21720669	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	173	21720669	37408314	651	5719											
ZNF208	7757	broad.mit.edu	37	chr19	22156106	22156106	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacatttgtagggtttctctAcagtatgaattttcttatga	10	18	7	6	0	2	2	0	2	2	0	3	2	2	2	0	1	1	3	0	1	5	8			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:22156106A>C	ENST00000397126.4	-	4	1878	c.1730T>G	c.(1729-1731)gTa>gGa	p.V577G	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.V477G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTTCTCTACAGTATGAAT	0.353													5	24					0	0	0	0	C	22156106	A	C	22156106	3	2	27	1	0	0	0	0	1	0	0	0	17861	391	14	5	2116	5	ZNF208	19	22156106	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	435437	22156106	36972877	652	5720											
ZNF99	7652	broad.mit.edu	37	chr19	22951156	22951156	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcatattccaaggctctttCccttgcttcagacaagttat	9	16	5	11	0	3	1	2	0	1	1	5	1	5	1	2	1	1	3	2	1	4	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:22951156C>A	ENST00000397104.3	-	3	239	c.240G>T	c.(238-240)ggG>ggT	p.G80G	ZNF99_ENST00000596209.1_Silent_p.G59G					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGCTCTTTCCCTTGCTTCA	0.368													8	20					1.76689e-08	2.20922e-08	1	0	A	22951156	C	A	22951156	2	1	27	1	0	0	0	0	0	0	0	1	18297	842	30	2		2	ZNF99	19	22951156	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	795050	22951156	36177827	653	5721											
UQCRFS1	7386	broad.mit.edu	37	chr19	29698651	29698651	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacctatcaggataaccCattcaggtttctttactcga	13	12	5	11	1	3	0	2	0	1	0	4	2	3	1	2	2	3	1	2	2	4	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:29698651C>A	ENST00000304863.4	-	2	1051	c.629G>T	c.(628-630)tGg>tTg	p.W210L		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	210	Rieske.				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CAGGATAACCCATTCAGGTTT	0.453													28	77					2.44723e-14	3.59032e-14	1	0	A	29698651	C	A	29698651	3	1	27	1	0	0	0	0	1	0	0	0	17117	595	21	4	199	4	UQCRFS1	19	29698651	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	6747495	29698651	29430332	654	5722											
ZNF536	9745	broad.mit.edu	37	chr19	30935177	30935177	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcaggccccgctggcCgcctgcaccctggccctgca	4	4	12	21	2	0	0	0	0	0	0	0	0	0	0	7	3	3	4	7	3	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:30935177C>T	ENST00000355537.3	+	2	855	c.708C>T	c.(706-708)gcC>gcT	p.A236A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCGCTGGCCGCCTGCACCC	0.746													7	10					0	0	0	0	T	30935177	C	T	30935177	2	4	27	1	0	0	0	0	0	0	0	1	18069	639	23	1		1	ZNF536	19	30935177	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1236526	30935177	28193806	655	5723											
ZNF536	9745	broad.mit.edu	37	chr19	30935392	30935392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacgttgtgcgacttcgCggcttcgcaggaggaggagc	6	8	17	10	5	0	0	0	0	0	0	2	4	0	3	0	4	3	4	0	4	0	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:30935392C>A	ENST00000355537.3	+	2	1070	c.923C>A	c.(922-924)gCg>gAg	p.A308E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCGACTTCGCGGCTTCGCAG	0.642													60	143					1.72039e-30	2.86941e-30	1	0	A	30935392	C	A	30935392	3	1	27	1	0	0	0	0	1	0	0	0	18069	768	27	3	925	3	ZNF536	19	30935392	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	215	30935392	28193591	656	5724											
MAG	4099	broad.mit.edu	37	chr19	35804288	35804288	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcactcggacctggggaaAcggcccaccaaggacagcta	11	5	11	14	2	1	0	1	0	1	0	3	3	1	3	3	5	2	1	3	5	3	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:35804288A>G	ENST00000392213.3	+	11	1971	c.1812A>G	c.(1810-1812)aaA>aaG	p.K604K	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Silent_p.K579K	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	604					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACCTGGGGAAACGGCCCACCA	0.632													26	59					0	0	0	0	G	35804288	A	G	35804288	2	3	27	1	0	0	0	0	0	0	0	1	9227	40	2	5		5	MAG	19	35804288	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	4868896	35804288	23324695	657	5725											
SBSN	374897	broad.mit.edu	37	chr19	36019126	36019126	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctggccgcccatccagAcagggcccccagtagcagaa	10	4	11	16	2	0	2	0	0	0	2	2	2	1	2	5	2	1	3	5	2	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:36019126A>T	ENST00000452271.2	-	1	86	c.58T>A	c.(58-60)Tct>Act	p.S20T	SBSN_ENST00000518157.1_Missense_Mutation_p.S20T	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	20						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCCATCCAGACAGGGCCCCC	0.602													20	75					0	0	0	0	T	36019126	A	T	36019126	3	4	27	1	0	0	0	0	1	0	0	0	13950	275	10	5	1730	5	SBSN	19	36019126	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	214838	36019126	23109857	658	5726											
APLP1	333	broad.mit.edu	37	chr19	36361823	36361823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagctgcagattgcacGtgtggagcaggctacgcagg	8	6	16	11	3	0	1	0	0	0	1	0	3	0	3	1	4	5	6	1	4	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:36361823G>A	ENST00000221891.4	+	3	509	c.317G>A	c.(316-318)cGt>cAt	p.R106H	APLP1_ENST00000586861.1_Missense_Mutation_p.R100H|APLP1_ENST00000537454.2_Missense_Mutation_p.R67H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	106					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGATTGCACGTGTGGAGCAG	0.692													3	15					0	0	0	0	A	36361823	G	A	36361823	3	1	27	1	0	0	0	0	1	0	0	0	780	1145	40	1	327	1	APLP1	19	36361823	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	342697	36361823	22767160	659	5727											
TYROBP	7305	broad.mit.edu	37	chr19	36398448	36398448	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccatcacgatccctgcCagcacgcccgggctcaccgt	6	7	8	20	4	3	0	2	0	1	0	5	1	4	0	5	1	2	2	5	1	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:36398448C>A	ENST00000585901.2	-	3	147	c.129G>T	c.(127-129)ctG>ctT	p.L43L	TYROBP_ENST00000262629.4_Silent_p.L43L|TYROBP_ENST00000589517.1_Silent_p.L43L|TYROBP_ENST00000424586.3_Silent_p.L32L|TYROBP_ENST00000544690.2_Silent_p.L32L			O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	43					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGATCCCTGCCAGCACGCCCG	0.677													17	58					4.7546e-09	6.06096e-09	1	0	A	36398448	C	A	36398448	2	1	27	1	0	0	0	0	0	0	0	1	16911	581	21	4		4	TYROBP	19	36398448	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	36625	36398448	22730535	660	5728											
ZFP82	284406	broad.mit.edu	37	chr19	36884837	36884837	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcacactactgaagtatccTtcttgaggtctctcctgtcc	7	15	6	13	0	3	2	1	2	2	0	7	2	6	2	3	1	1	1	3	1	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:36884837T>C	ENST00000392161.3	-	5	647	c.405A>G	c.(403-405)gaA>gaG	p.E135E	ZFP82_ENST00000392171.1_Silent_p.E135E	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAAGTATCCTTCTTGAGGTC	0.383													15	52					0	0	0	0	C	36884837	T	C	36884837	2	2	27	1	0	0	0	0	0	0	0	1	17748	1606	56	5		5	ZFP82	19	36884837	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	486389	36884837	22244146	661	5729											
ZNF420	147923	broad.mit.edu	37	chr19	37619640	37619640	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatcagcgaattcacactGgagaaaaaccctatgaatgc	17	7	7	10	1	2	2	2	1	0	1	2	4	2	2	1	1	4	0	1	1	6	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:37619640G>T	ENST00000337995.3	+	5	1962	c.1747G>T	c.(1747-1749)Gga>Tga	p.G583*	CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_3'UTR|ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTCACACTGGAGAAAAACC	0.433													14	46					9.31168e-06	1.05988e-05	1	0	T	37619640	G	T	37619640	4	4	27	1	0	0	0	0	0	1	0	0	17992	1349	47	4	1757	4	ZNF420	19	37619640	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	734803	37619640	21509343	662	5730											
ZNF585A	199704	broad.mit.edu	37	chr19	37646793	37646793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctctgacgtggcctctcaCcctgcagtgcccatggttcc	5	10	10	16	1	2	1	1	1	2	0	4	1	3	1	4	2	3	3	4	2	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:37646793C>A	ENST00000356958.4	-	4	524	c.266G>T	c.(265-267)gGt>gTt	p.G89V	ZNF585A_ENST00000355533.2_Missense_Mutation_p.G34V|ZNF585A_ENST00000292841.5_Missense_Mutation_p.G34V|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000392157.2_Missense_Mutation_p.G34V			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	89	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGCCTCTCACCCTGCAGTGC	0.522													16	40					6.44725e-10	8.38234e-10	1	0	A	37646793	C	A	37646793	3	1	27	1	0	0	0	0	1	0	0	0	18112	507	18	4	2051	4	ZNF585A	19	37646793	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	27153	37646793	21482190	663	5731											
DPF1	8193	broad.mit.edu	37	chr19	38713074	38713074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttcctccaacagcgggcgGggtacgtgtaaatctgtccc	7	10	11	13	3	2	0	0	0	2	0	5	0	5	0	3	3	3	2	3	3	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:38713074G>A	ENST00000416611.1	-	3	347	c.224C>T	c.(223-225)cCc>cTc	p.P75L	DPF1_ENST00000456296.1_Missense_Mutation_p.P75L|DPF1_ENST00000420980.2_Missense_Mutation_p.P101L|DPF1_ENST00000414789.1_Missense_Mutation_p.P19L|DPF1_ENST00000355526.4_Missense_Mutation_p.P101L|DPF1_ENST00000412732.1_Missense_Mutation_p.P19L			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	101					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACAGCGGGCGGGGTACGTGTA	0.701													54	143					0	0	0	0	A	38713074	G	A	38713074	3	1	27	1	0	0	0	0	1	0	0	0	4752	1232	43	4	1012	4	DPF1	19	38713074	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1066281	38713074	20415909	664	5732											
CYP2A13	1553	broad.mit.edu	37	chr19	41594863	41594863	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatggccctgtgttcacCattcacttggggccccggcg	4	10	12	15	3	2	0	2	0	0	0	2	0	2	0	4	4	0	2	4	4	1	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:41594863C>T	ENST00000330436.3	+	2	210	c.210C>T	c.(208-210)acC>acT	p.T70T		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	70					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CTGTGTTCACCATTCACTTGG	0.627													29	76					0	0	0	0	T	41594863	C	T	41594863	2	4	27	1	0	0	0	0	0	0	0	1	4193	581	21	4		4	CYP2A13	19	41594863	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2881789	41594863	17534120	665	5733											
ATP1A3	478	broad.mit.edu	37	chr19	42492683	42492683	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgctccttgcccttgttcTtcttgggtgagtccttgtca	2	16	11	12	1	3	1	1	1	2	0	5	1	5	1	3	2	1	2	3	2	0	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:42492683T>G	ENST00000545399.1	-	2	230	c.77A>C	c.(76-78)aAg>aCg	p.K26T	ATP1A3_ENST00000302102.5_Missense_Mutation_p.K13T|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000543770.1_Missense_Mutation_p.K24T|ATP1A3_ENST00000602133.1_5'UTR	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	13					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCCCTTGTTCTTCTTGGGTGA	0.602													67	179					0	0	0	0	G	42492683	T	G	42492683	3	3	27	1	0	0	0	0	1	0	0	0	1134	1609	56	5	3091	5	ATP1A3	19	42492683	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	897820	42492683	16636300	666	5734											
CEACAM8	1088	broad.mit.edu	37	chr19	43093794	43093794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccaccacaggtaggttgtgTtctgagtctcaggttcacag	8	11	11	11	0	3	1	2	1	2	0	4	1	3	1	2	3	0	4	2	3	1	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:43093794T>C	ENST00000244336.5	-	3	619	c.518A>G	c.(517-519)aAc>aGc	p.N173S	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	173	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GTAGGTTGTGTTCTGAGTCTC	0.567													52	184					0	0	0	0	C	43093794	T	C	43093794	3	2	27	1	0	0	0	0	1	0	0	0	3227	1725	60	5	543	5	CEACAM8	19	43093794	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	601111	43093794	16035189	667	5735											
DMWD	1762	broad.mit.edu	37	chr19	46289271	46289271	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgggtgcgggagacTgttggagcgggacagcgagc	7	5	20	9	3	0	1	0	0	0	1	0	5	0	3	1	4	5	2	1	4	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:46289271T>A	ENST00000270223.6	-	3	1528	c.1483A>T	c.(1483-1485)Agt>Tgt	p.S495C	DMWD_ENST00000377735.3_Missense_Mutation_p.S495C	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	495					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TGCGGGAGACTGTTGGAGCGG	0.736													6	12					0	0	0	0	A	46289271	T	A	46289271	3	1	27	1	0	0	0	0	1	0	0	0	4630	1580	55	5	553	5	DMWD	19	46289271	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	3195477	46289271	12839712	668	5736											
ZC3H4	23211	broad.mit.edu	37	chr19	47597769	47597769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtgatgcttctccccCttttctttccggcttctctc	2	18	5	16	1	4	1	1	1	3	0	8	1	5	1	3	1	1	2	3	1	0	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:47597769C>G	ENST00000253048.5	-	3	295	c.258G>C	c.(256-258)aaG>aaC	p.K86N	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	86							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCTTCTCCCCCTTTTCTTTCC	0.527													93	263					0	0	0	0	G	47597769	C	G	47597769	3	3	27	1	0	0	0	0	1	0	0	0	17665	680	24	4	3705	4	ZC3H4	19	47597769	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1308498	47597769	11531214	669	5737											
GRIN2D	2906	broad.mit.edu	37	chr19	48946544	48946544	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcggaggactcggagagcCtgggcggcgcgtcgctgggc	5	5	19	12	6	0	1	0	0	0	1	3	4	0	3	1	6	1	1	1	6	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:48946544C>T	ENST00000263269.3	+	13	3449	c.3361C>T	c.(3361-3363)Ctg>Ttg	p.L1121L		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	1121						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTCGGAGAGCCTGGGCGGCGC	0.771													3	12					0	0	0	0	T	48946544	C	T	48946544	2	4	27	1	0	0	0	0	0	0	0	1	6832	680	24	4		4	GRIN2D	19	48946544	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1348775	48946544	10182439	670	5738											
SLC6A16	28968	broad.mit.edu	37	chr19	49813424	49813424	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgaggatgaagcacacCtgggggccaaggaggatatg	12	4	17	8	1	0	1	0	1	0	0	0	5	0	4	3	6	1	1	3	6	3	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:49813424C>A	ENST00000454748.3	-	4	775		c.e4-1		SLC6A16_ENST00000335875.4_Splice_Site			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16							integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TGAAGCACACCTGGGGGCCAA	0.532													15	27					0.00244969	0.00257952	1	0	A	49813424	C	A	49813424	5	1	27	1	0	0	0	0	0	0	1	0	14767	695	24	4	1673	4	SLC6A16	19	49813424	Splice_Site	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	866880	49813424	9315559	671	5739											
KLK2	3817	broad.mit.edu	37	chr19	51379788	51379788	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgaagacacaggccagagGgtccctgtcagccacagctt	10	6	11	14	0	1	3	1	1	0	2	2	3	2	3	4	2	2	1	4	2	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:51379788G>A	ENST00000325321.3	+	3	492	c.267G>A	c.(265-267)agG>agA	p.R89R	KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000597509.1_3'UTR|KLK2_ENST00000358049.4_Silent_p.R89R			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	89	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CAGGCCAGAGGGTCCCTGTCA	0.552			T	ETV4	prostate								17	55					0	0	0	0	A	51379788	G	A	51379788	2	1	27	1	0	0	0	0	0	0	0	1	8456	1223	43	4		4	KLK2	19	51379788	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1566364	51379788	7749195	672	5740											
HAS1	3036	broad.mit.edu	37	chr19	52216930	52216930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggacgtagttagcggccAgcttccgccggcccgaggtg	6	6	17	12	5	0	0	0	0	0	0	1	3	1	1	4	4	2	3	4	4	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:52216930A>G	ENST00000540069.2	-	5	1544	c.1484T>C	c.(1483-1485)cTg>cCg	p.L495P	HAS1_ENST00000222115.1_Missense_Mutation_p.L496P|HAS1_ENST00000601714.1_Missense_Mutation_p.L503P			Q92839	HAS1_HUMAN	hyaluronan synthase 1	496					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTTAGCGGCCAGCTTCCGCCG	0.687													3	6					0	0	0	0	G	52216930	A	G	52216930	3	3	27	1	0	0	0	0	1	0	0	0	7011	188	7	5	253	5	HAS1	19	52216930	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	837142	52216930	6912053	673	5741											
ZNF701	55762	broad.mit.edu	37	chr19	53086179	53086179	+	Missense_Mutation	SNP	G	G	T																															tcagccctgttagttcacaaGgcaattcatactggagagaa																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53086179G>T	ENST00000540331.1	+	5	1290	c.1065G>T	c.(1063-1065)aaG>aaT	p.K355N	ZNF701_ENST00000391785.3_Missense_Mutation_p.K289N|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.K355N	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TAGTTCACAAGGCAATTCATA	0.413													8	43					9.70103e-10	1.25769e-09	1	0	T	53086179	G	T	53086179	3	4	27	1	0	0	0	0	1	0	0	0	18200	991	35	4	1079	4	ZNF701	19	53086179	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	869249	53086179	6042804	674	5742	58	2									
ZNF701	55762	broad.mit.edu	37	chr19	53086180	53086180	+	Missense_Mutation	SNP	G	G	T																															cagccctgttagttcacaagGcaattcatactggagagaaa																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53086180G>T	ENST00000540331.1	+	5	1291	c.1066G>T	c.(1066-1068)Gca>Tca	p.A356S	ZNF701_ENST00000391785.3_Missense_Mutation_p.A290S|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.A356S	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGTTCACAAGGCAATTCATAC	0.408													9	43					5.16669e-11	6.93444e-11	1	0	T	53086180	G	T	53086180	3	4	27	1	0	0	0	0	1	0	0	0	18200	1203	42	4	1080	4	ZNF701	19	53086180	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1	53086180	6042803	675	5743	58	2									
ZNF28	7576	broad.mit.edu	37	chr19	53311383	53311383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgtccctgaatgtcaataGaccctgaaatggaaacacat	15	8	7	11	1	1	3	1	2	0	1	2	4	2	4	2	1	1	0	2	1	5	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53311383G>C	ENST00000457749.2	-	3	138	c.19C>G	c.(19-21)Cta>Gta	p.L7V	ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000594602.1_Missense_Mutation_p.L7V|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000339844.6_5'UTR	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AATGTCAATAGACCCTGAAAT	0.438													27	104					0	0	0	0	C	53311383	G	C	53311383	3	2	27	1	0	0	0	0	1	0	0	0	17908	957	33	2		2	ZNF28	19	53311383	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	225203	53311383	5817600	676	5744											
VN1R4	317703	broad.mit.edu	37	chr19	53770743	53770743	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctgggggactcctttaCagcggagagctaagaagttg	9	11	14	7	1	1	2	0	0	1	2	2	4	2	3	1	3	3	2	1	3	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53770743C>A	ENST00000311170.4	-	1	229	c.176G>T	c.(175-177)tGt>tTt	p.C59F		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	59					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GACTCCTTTACAGCGGAGAGC	0.458										HNSCC(26;0.072)			13	34					0.0242445	0.0247316	1	0	A	53770743	C	A	53770743	3	1	27	1	0	0	0	0	1	0	0	0	17276	478	17	4	732	4	VN1R4	19	53770743	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	459360	53770743	5358240	677	5745											
BIRC8	112401	broad.mit.edu	37	chr19	53793392	53793392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacgggttaaatgaatgttgTttatatattcatgtcccttc	11	17	7	6	1	1	1	1	1	0	0	3	1	2	1	1	1	1	3	1	1	7	8			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53793392T>C	ENST00000426466.1	-	1	1483	c.236A>G	c.(235-237)aAc>aGc	p.N79S		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	79					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		ATGAATGTTGTTTATATATTC	0.408													26	85					0	0	0	0	C	53793392	T	C	53793392	3	2	27	1	0	0	0	0	1	0	0	0	1445	1725	60	5	478	5	BIRC8	19	53793392	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	22649	53793392	5335591	678	5746											
ZNF845	91664	broad.mit.edu	37	chr19	53856450	53856450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgtggcaagaccttccGtcacaattcagcccttgaaa	11	10	9	11	1	2	3	2	2	0	1	3	3	3	3	3	1	1	1	3	1	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53856450G>A	ENST00000458035.1	+	4	2639	c.2522G>A	c.(2521-2523)cGt>cAt	p.R841H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R841H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAGACCTTCCGTCACAATTCA	0.393													12	52					0	0	0	0	A	53856450	G	A	53856450	3	1	27	1	0	0	0	0	1	0	0	0	18284	1145	40	1	2532	1	ZNF845	19	53856450	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	63058	53856450	5272533	679	5747											
ZNF761	388561	broad.mit.edu	37	chr19	53945972	53945972	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatctttaacgggaaggctGctttctccttttgccacccc	6	14	8	13	1	2	1	0	1	2	0	3	2	2	2	4	2	3	2	4	2	2	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53945972G>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CGGGAAGGCTGCTTTCTCCTT	0.572													17	21					0	0	0	0	C	53945972	G	C	53945972	1	2	27	0	1	0	0	0	0	0	0	0	18230	1334	46	4		4	ZNF761	19	53945972	RNA	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	89522	53945972	5183011	680	5748											
CACNG7	59284	broad.mit.edu	37	chr19	54445349	54445349	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacgcggaggaggagatgtaCcgtccacacccggccttcta	9	7	12	13	4	1	1	0	0	1	1	2	4	2	3	4	4	2	1	4	4	3	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:54445349C>G	ENST00000391767.1	+	6	842	c.630C>G	c.(628-630)taC>taG	p.Y210*	CACNG7_ENST00000222212.2_Nonsense_Mutation_p.Y210*			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	210				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		AGGAGATGTACCGTCCACACC	0.706													11	40					0	0	0	0	G	54445349	C	G	54445349	4	3	27	1	0	0	0	0	0	1	0	0	2587	518	18	4	648	4	CACNG7	19	54445349	Nonsense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	499377	54445349	4683634	681	5749											
TFPT	29844	broad.mit.edu	37	chr19	54611361	54611361	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccagctctggagtcagcGcatttcctgctcggcgtcca	5	9	13	14	3	2	0	1	0	1	0	5	1	4	1	3	3	3	3	3	3	0	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:54611361G>C	ENST00000391759.1	-	5	1019	c.614C>G	c.(613-615)gCg>gGg	p.A205G	TFPT_ENST00000391757.1_Missense_Mutation_p.R193G|TFPT_ENST00000391758.1_Missense_Mutation_p.A196G|NDUFA3_ENST00000391764.3_Intron	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	205					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TGGAGTCAGCGCATTTCCTGC	0.711			T	TCF3	pre-B ALL								19	86					0	0	0	0	C	54611361	G	C	54611361	3	2	27	1	0	0	0	0	1	0	0	0	15904	1087	38	3	155	3	TFPT	19	54611361	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	166012	54611361	4517622	682	5750											
LENG8	114823	broad.mit.edu	37	chr19	54968077	54968077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcacctgtgcccccgacCcgtccaccgtgcgccctgtg	3	7	10	21	4	1	0	1	0	0	0	2	1	2	0	8	0	2	0	8	0	0	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:54968077C>T	ENST00000326764.5	+	11	2187	c.1708C>T	c.(1708-1710)Ccg>Tcg	p.P570S	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	533							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGCCCCCGACCCGTCCACCGT	0.667													10	30					0	0	0	0	T	54968077	C	T	54968077	3	4	27	1	0	0	0	0	1	0	0	0	8777	623	22	4	1746	4	LENG8	19	54968077	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	356716	54968077	4160906	683	5751											
LAIR2	3904	broad.mit.edu	37	chr19	55019138	55019138	+	Frame_Shift_Del	DEL	C	C	-																															gaccctccatctcggctgagCcaggcactgtgatctccccg																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:55019138delC	ENST00000301202.2	+	3	225	c.103delC	c.(103-105)cafs	p.P35fs	LAIR2_ENST00000351841.2_Frame_Shift_Del_p.P35fs	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	35	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CTCGGCTGAGCCAGGCACTGT	0.577													60	239	---	---	---	---					-	55019138	C	-	55019138	7	5	27	1	0	1	0	1	0	0	0	0	8656	739	26	0	113	0	LAIR2	19	55019138	Frame_Shift_Del	DEL	C	TCGA-BA-A6DA-01A-31D-A31L-08	51061	55019138	4109845	684	5752											
NLRP2	55655	broad.mit.edu	37	chr19	55501470	55501470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaccagtccctgacgtgcgTaaacctctccgacaatgagc	11	7	8	15	3	1	2	0	2	1	0	3	3	2	2	4	0	4	1	4	0	4	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:55501470T>C	ENST00000543010.1	+	9	2590	c.2447T>C	c.(2446-2448)gTa>gCa	p.V816A	NLRP2_ENST00000339757.7_Missense_Mutation_p.V794A|NLRP2_ENST00000391721.4_Missense_Mutation_p.V792A|NLRP2_ENST00000537859.1_Missense_Mutation_p.V794A|NLRP2_ENST00000427260.2_Missense_Mutation_p.V793A|NLRP2_ENST00000538819.1_Missense_Mutation_p.V792A|NLRP2_ENST00000263437.6_Missense_Mutation_p.V813A|NLRP2_ENST00000448584.2_Missense_Mutation_p.V816A	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	816					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTGACGTGCGTAAACCTCTCC	0.517													22	59					0	0	0	0	C	55501470	T	C	55501470	3	2	27	1	0	0	0	0	1	0	0	0	10547	1638	57	5	2477	5	NLRP2	19	55501470	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	482332	55501470	3627513	685	5753											
NLRP11	204801	broad.mit.edu	37	chr19	56307532	56307532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcggattgctggataaGgtcagttttctcagactccc	8	12	10	11	1	3	1	3	0	1	1	5	3	4	3	1	3	2	2	1	3	1	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:56307532G>A	ENST00000443188.1	-	8	2966	c.2256C>T	c.(2254-2256)acC>acT	p.T752T	NLRP11_ENST00000360133.3_Silent_p.T698T|NLRP11_ENST00000589824.2_Silent_p.T698T|NLRP11_ENST00000589093.1_Silent_p.T752T|NLRP11_ENST00000592953.1_Silent_p.T653T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	752							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)		TGCTGGATAAGGTCAGTTTTC	0.478													45	117					0	0	0	0	A	56307532	G	A	56307532	2	1	27	1	0	0	0	0	0	0	0	1	10543	987	35	4		4	NLRP11	19	56307532	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	806062	56307532	2821451	686	5754											
NLRP8	126205	broad.mit.edu	37	chr19	56466062	56466062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccatacagggagctcctgGgatcggaaaaacaatcctgg	12	6	13	10	1	0	0	0	0	0	0	3	3	2	3	3	5	3	1	3	5	4	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:56466062G>C	ENST00000291971.3	+	3	709	c.638G>C	c.(637-639)gGg>gCg	p.G213A	NLRP8_ENST00000590542.1_Missense_Mutation_p.G213A	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	213	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGAGCTCCTGGGATCGGAAAA	0.527													16	62					0	0	0	0	C	56466062	G	C	56466062	3	2	27	1	0	0	0	0	1	0	0	0	10553	1232	43	4	648	4	NLRP8	19	56466062	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	158530	56466062	2662921	687	5755											
ZNF583	147949	broad.mit.edu	37	chr19	56935052	56935052	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttcatttcttgctcagcAtcagagaattcatacaggag	11	13	9	8	0	5	1	4	0	1	1	5	3	5	2	0	2	3	3	0	2	2	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:56935052A>G	ENST00000333201.9	+	5	1235	c.1025A>G	c.(1024-1026)cAt>cGt	p.H342R	ZNF583_ENST00000291598.7_Missense_Mutation_p.H342R|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTTGCTCAGCATCAGAGAATT	0.413													21	97					0	0	0	0	G	56935052	A	G	56935052	3	3	27	1	0	0	0	0	1	0	0	0	18110	217	8	5	1039	5	ZNF583	19	56935052	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	468990	56935052	2193931	688	5756											
ZNF667	63934	broad.mit.edu	37	chr19	56953128	56953128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttacactcaaatagtttCtttttctttgtatgaacttt	9	21	3	8	0	3	1	1	1	2	0	4	1	4	1	1	0	2	2	1	0	5	8			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:56953128C>A	ENST00000504904.3	-	7	1955	c.1236G>T	c.(1234-1236)aaG>aaT	p.K412N	ZNF667_ENST00000342634.3_Missense_Mutation_p.K540N|ZNF667_ENST00000292069.6_Missense_Mutation_p.K412N|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CAAATAGTTTCTTTTTCTTTG	0.333													7	28					0.00198382	0.00209136	1	0	A	56953128	C	A	56953128	3	1	27	1	0	0	0	0	1	0	0	0	18169	912	32	2	600	2	ZNF667	19	56953128	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	18076	56953128	2175855	689	5757											
ZNF71	58491	broad.mit.edu	37	chr19	57132710	57132710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagacaagctctccgttgttGgggaggccacggggggaccc	8	6	16	11	2	1	1	0	0	1	1	2	3	1	3	3	6	1	3	3	6	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:57132710G>T	ENST00000328070.6	+	3	289	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	19						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTCCGTTGTTGGGGAGGCCAC	0.552													16	37					4.7546e-09	6.06096e-09	1	0	T	57132710	G	T	57132710	3	4	27	1	0	0	0	0	1	0	0	0	18209	1348	47	4	57	4	ZNF71	19	57132710	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	179582	57132710	1996273	690	5758											
USP29	57663	broad.mit.edu	37	chr19	57641807	57641807	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgacctcagaatccagTgattccctggttctacccgt	9	11	8	13	1	2	3	1	2	1	1	4	3	4	3	4	1	2	2	4	1	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:57641807T>A	ENST00000254181.4	+	4	2218	c.1764T>A	c.(1762-1764)agT>agA	p.S588R	USP29_ENST00000598197.1_Missense_Mutation_p.S588R	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	588					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGAATCCAGTGATTCCCTGG	0.488													14	63					0	0	0	0	A	57641807	T	A	57641807	3	1	27	1	0	0	0	0	1	0	0	0	17155	1693	59	5	1766	5	USP29	19	57641807	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	509097	57641807	1487176	691	5759											
ZNF8	7554	broad.mit.edu	37	chr19	58806088	58806088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccctcgtccagcatgagcGcatccacactggagacaagc	10	6	9	16	2	0	2	0	1	0	1	4	3	3	2	3	1	3	2	3	1	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:58806088G>A	ENST00000196548.5	+	4	1045	c.914G>A	c.(913-915)cGc>cAc	p.R305H	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CAGCATGAGCGCATCCACACT	0.532													10	59					0	0	0	0	A	58806088	G	A	58806088	3	1	27	1	0	0	0	0	1	0	0	0	18260	1087	38	1	928	1	ZNF8	19	58806088	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1164281	58806088	322895	692	5760											
ANGPT4	51378	broad.mit.edu	37	chr20	896737	896737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgtagctacagtggcCgtgctggactacaagtgtct	9	10	14	8	1	1	0	0	0	1	0	1	2	1	1	1	3	4	3	1	3	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:896737C>A	ENST00000381922.3	-	1	223	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C	ANGPT4_ENST00000546022.1_Missense_Mutation_p.G41C	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	41					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.G41S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTACAGTGGCCGTGCTGGACT	0.617													31	93					1.36615e-20	2.21393e-20	1	0	A	896737	C	A	896737	3	1	27	1	0	0	0	0	1	0	0	0	612	652	23	3	1426	3	ANGPT4	20	896737	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08		896737	62128783	693	5761											
C20orf194	25943	broad.mit.edu	37	chr20	3306916	3306916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaataacagcagcatatatCtgggacaatagcctacttta	15	11	6	9	0	2	0	1	0	1	0	2	1	2	1	1	1	5	2	1	1	8	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:3306916C>A	ENST00000252032.9	-	13	1183	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	C20orf194_ENST00000453730.2_Missense_Mutation_p.Q110H	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	372										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CAGCATATATCTGGGACAATA	0.353													9	36					1.76689e-08	2.20922e-08	1	0	A	3306916	C	A	3306916	3	1	27	1	0	0	0	0	1	0	0	0	2119	912	32	2	2517	2	C20orf194	20	3306916	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2410179	3306916	59718604	694	5762											
PAX1	5075	broad.mit.edu	37	chr20	21687041	21687041	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacccgccgggtgttttctcCccctccggctcactcttgtc	3	12	8	18	3	3	0	1	0	2	0	6	0	4	0	5	2	1	2	5	2	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:21687041C>A	ENST00000444366.2	+	1	181	c.180C>A	c.(178-180)tcC>tcA	p.S60S	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000398485.2_Intron			P15863	PAX1_HUMAN	paired box 1	83					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GTGTTTTCTCCCCCTCCGGCT	0.667													14	60					1.15088e-07	1.40254e-07	1	0	A	21687041	C	A	21687041	2	1	27	1	0	0	0	0	0	0	0	1	11549	638	22	4		4	PAX1	20	21687041	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	18380125	21687041	41338479	695	5763											
PTPRT	11122	broad.mit.edu	37	chr20	40713419	40713419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagagcgcttggagggggGcgtgtcccggtaggcaggcc	6	5	20	10	3	0	1	0	0	0	1	1	3	1	2	2	7	1	3	2	7	1	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:40713419G>A	ENST00000373198.3	-	30	4340	c.4105C>T	c.(4105-4107)Ccc>Tcc	p.P1369S	PTPRT_ENST00000356100.2_Missense_Mutation_p.P1356S|PTPRT_ENST00000373190.1_Missense_Mutation_p.P1346S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P1337S|PTPRT_ENST00000373193.3_Missense_Mutation_p.P1350S|PTPRT_ENST00000373184.1_Missense_Mutation_p.P1357S|PTPRT_ENST00000373187.1_Missense_Mutation_p.P1347S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1347	Tyrosine-protein phosphatase 2.				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)				TTGGAGGGGGGCGTGTCCCGG	0.592													4	42					0	0	0	0	A	40713419	G	A	40713419	3	1	27	1	0	0	0	0	1	0	0	0	12894	1203	42	4	298	4	PTPRT	20	40713419	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	19026378	40713419	22312101	696	5764											
TOX2	84969	broad.mit.edu	37	chr20	42635323	42635323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgtgccacggcctcacccCcaacggtctgctccctgcct	4	8	9	20	2	2	0	1	0	1	0	3	0	3	0	6	2	4	2	6	2	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:42635323C>T	ENST00000358131.5	+	3	537	c.329C>T	c.(328-330)cCc>cTc	p.P110L	TOX2_ENST00000423191.1_Missense_Mutation_p.P59L|TOX2_ENST00000372999.1_Missense_Mutation_p.P59L|TOX2_ENST00000341197.3_Missense_Mutation_p.P101L	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	110	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCTCACCCCCAACGGTCTG	0.642													22	48					0	0	0	0	T	42635323	C	T	42635323	3	4	27	1	0	0	0	0	1	0	0	0	16473	623	22	4	442	4	TOX2	20	42635323	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1921904	42635323	20390197	697	5765											
ELMO2	63916	broad.mit.edu	37	chr20	45021779	45021779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccattcttaatgtcactgcGagtctgggtagtgaaaaata	12	12	9	8	1	3	1	1	1	2	0	3	2	3	1	1	1	1	1	1	1	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:45021779G>A	ENST00000290246.6	-	6	390	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	ELMO2_ENST00000439931.2_Missense_Mutation_p.R66C|ELMO2_ENST00000396391.1_Missense_Mutation_p.R66C|ELMO2_ENST00000352077.2_Missense_Mutation_p.R66C|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000445496.2_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	66					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				ATGTCACTGCGAGTCTGGGTA	0.338													4	50					0	0	0	0	A	45021779	G	A	45021779	3	1	27	1	0	0	0	0	1	0	0	0	5104	1058	37	1	2034	1	ELMO2	20	45021779	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2386456	45021779	18003741	698	5766											
SULF2	55959	broad.mit.edu	37	chr20	46313262	46313262	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtggatgggcttcatGggccccgtgtagcgcatgat	6	11	14	10	2	1	1	1	1	0	0	2	2	2	2	3	3	1	3	3	3	1	2	rs114802841	by1000genomes	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:46313262G>C	ENST00000359930.4	-	6	1652	c.801C>G	c.(799-801)ccC>ccG	p.P267P	SULF2_ENST00000484875.1_Silent_p.P267P|SULF2_ENST00000467815.1_Silent_p.P267P|SULF2_ENST00000361612.4_Silent_p.P267P|CTD-2653D5.1_ENST00000526566.2_RNA	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	267					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGGGCTTCATGGGCCCCGTGT	0.602													9	28					0	0	0	0	C	46313262	G	C	46313262	2	2	27	1	0	0	0	0	0	0	0	1	15461	1335	47	4		4	SULF2	20	46313262	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1291483	46313262	16712258	699	5767											
ZNF831	128611	broad.mit.edu	37	chr20	57766541	57766541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtcgcgactgcctgaagcCcagtgttctagagaagcaca	10	8	12	11	2	1	2	0	1	1	1	2	4	1	2	2	1	3	2	2	1	3	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:57766541C>A	ENST00000371030.2	+	1	467	c.467C>A	c.(466-468)cCc>cAc	p.P156H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	156						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCCTGAAGCCCAGTGTTCTA	0.642													54	149					8.52529e-16	1.28795e-15	1	0	A	57766541	C	A	57766541	3	1	27	1	0	0	0	0	1	0	0	0	18278	623	22	4	469	4	ZNF831	20	57766541	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	11453279	57766541	5258979	700	5768			1	8		4	4	3039	N	G_C_A	6.482803e-05
ZNF831	128611	broad.mit.edu	37	chr20	57766702	57766702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcagagtccgagggcgccGggggcggcctcctggaggaa	6	4	18	13	4	1	1	1	0	0	1	3	4	3	3	5	6	0	0	5	6	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:57766702G>A	ENST00000371030.2	+	1	628	c.628G>A	c.(628-630)Ggg>Agg	p.G210R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	210						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGAGGGCGCCGGGGGCGGCCT	0.677													32	79					0	0	0	0	A	57766702	G	A	57766702	3	1	27	1	0	0	0	0	1	0	0	0	18278	1116	39	1	630	1	ZNF831	20	57766702	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	161	57766702	5258818	701	5769			1	8		4	4	3039	N	G_C_A	6.482803e-05
ZNF831	128611	broad.mit.edu	37	chr20	57766807	57766807	+	Frame_Shift_Del	DEL	C	C	-																															acgaaggcgcctcggagagaCccctttctccgggtgcccac																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:57766807delC	ENST00000371030.2	+	1	733	c.733delC	c.(733-735)ccfs	p.P245fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	245						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTCGGAGAGACCCCTTTCTCC	0.672													26	67	---	---	---	---					-	57766807	C	-	57766807	7	5	27	1	0	1	0	1	0	0	0	0	18278	507	18	0	735	0	ZNF831	20	57766807	Frame_Shift_Del	DEL	C	TCGA-BA-A6DA-01A-31D-A31L-08	105	57766807	5258713	702	5770			1	8		4	4	3039	N	G_C_A	6.482803e-05
ZNF831	128611	broad.mit.edu	37	chr20	57769579	57769579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcacccgcagtccccacAgcacccaaaacccctttccc	11	4	4	22	1	0	0	0	0	0	0	2	0	2	0	7	0	3	3	7	0	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:57769579A>G	ENST00000371030.2	+	1	3505	c.3505A>G	c.(3505-3507)Agc>Ggc	p.S1169G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1169						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGTCCCCACAGCACCCAAAA	0.672													31	90					0	0	0	0	G	57769579	A	G	57769579	3	3	27	1	0	0	0	0	1	0	0	0	18278	188	7	5	3507	5	ZNF831	20	57769579	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	2772	57769579	5255941	703	5771			1	8		4	4	3039	N	G_C_A	6.482803e-05
BAGE2	85319	broad.mit.edu	37	chr21	11058283	11058283	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtacatttctcttcacagCatttgatagtggctccaaag	10	13	9	9	0	2	1	1	1	1	0	4	1	3	1	1	2	2	3	1	2	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:11058283C>A	ENST00000470054.1	-	0	364									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTCTTCACAGCATTTGATAGT	0.403													4	155					5.9392e-07	7.08672e-07	1	0	A	11058283	C	A	11058283	1	1	27	0	1	0	0	0	0	0	0	0	1296	710	25	4		4	BAGE2	21	11058283	RNA	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08		11058283	37071612	704	5772											
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744289	31744289	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcaaggaggttctggggcgGtagcaggaggtctggcaggg	8	6	21	6	1	2	0	0	0	2	0	2	2	2	2	0	9	2	5	0	9	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:31744289G>T	ENST00000399889.2	-	1	268	c.243C>A	c.(241-243)taC>taA	p.Y81*		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	81	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TTCTGGGGCGGTAGCAGGAGG	0.602													23	54					4.26978e-12	5.88624e-12	1	0	T	31744289	G	T	31744289	4	4	27	1	0	0	0	0	0	1	0	0	8575	1256	44	4	288	4	KRTAP13-2	21	31744289	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	20686006	31744289	16385606	705	5773											
KRTAP13-3	337960	broad.mit.edu	37	chr21	31797870	31797870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagccattggatccacagcCcagtgaggagcagctcctgg	10	6	13	12	0	0	1	0	1	0	0	2	4	2	3	4	3	4	2	4	3	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:31797870C>A	ENST00000390690.2	-	1	416	c.361G>T	c.(361-363)Ggc>Tgc	p.G121C		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	121						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GATCCACAGCCCAGTGAGGAG	0.493													9	21					3.86212e-05	4.32066e-05	1	0	A	31797870	C	A	31797870	3	1	27	1	0	0	0	0	1	0	0	0	8576	623	22	4	161	4	KRTAP13-3	21	31797870	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	53581	31797870	16332025	706	5774											
DOPEY2	9980	broad.mit.edu	37	chr21	37609640	37609640	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcgtagaattgttctaccgGctgcactgcctggcccctac	6	11	10	14	2	1	1	0	0	1	1	1	1	1	1	4	2	5	4	4	2	4	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:37609640G>T	ENST00000399151.3	+	16	2788	c.2703G>T	c.(2701-2703)cgG>cgT	p.R901R		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	901					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGTTCTACCGGCTGCACTGCC	0.587													7	55					5.18039e-06	5.95582e-06	1	0	T	37609640	G	T	37609640	2	4	27	1	0	0	0	0	0	0	0	1	4744	1190	42	4		4	DOPEY2	21	37609640	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5811770	37609640	10520255	707	5775											
SIM2	6493	broad.mit.edu	37	chr21	38081518	38081518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgggcccctggacggcGtcgccaaggagctgggatcg	5	4	18	14	6	0	0	0	0	0	0	2	3	0	3	4	5	1	1	4	5	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:38081518G>A	ENST00000290399.6	+	2	839	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	SIM2_ENST00000430056.3_Missense_Mutation_p.V76I|SIM2_ENST00000460783.1_3'UTR	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	76					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CCTGGACGGCGTCGCCAAGGA	0.711													4	14					0	0	0	0	A	38081518	G	A	38081518	3	1	27	1	0	0	0	0	1	0	0	0	14412	1145	40	1	232	1	SIM2	21	38081518	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	471878	38081518	10048377	708	5776											
DSCAM	1826	broad.mit.edu	37	chr21	41559089	41559089	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcattcaatatcgtagccTgtgatgggactgtttccatc	8	15	9	9	1	1	1	1	1	0	0	4	2	2	2	2	1	2	3	2	1	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:41559089T>A	ENST00000400454.1	-	14	3225	c.2748A>T	c.(2746-2748)acA>acT	p.T916T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	916	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TATCGTAGCCTGTGATGGGAC	0.433													6	36					0	0	0	0	A	41559089	T	A	41559089	2	1	27	1	0	0	0	0	0	0	0	1	4804	1567	55	5		5	DSCAM	21	41559089	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	3477571	41559089	6570806	709	5777											
CECR2	27443	broad.mit.edu	37	chr22	18022521	18022521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctctcctcccgcgtctgcCccccaggtgtgccttaccac	4	9	8	20	2	2	0	0	0	2	0	4	0	3	0	7	1	4	1	7	1	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:18022521C>A	ENST00000262608.8	+	15	2626	c.2626C>A	c.(2626-2628)Ccc>Acc	p.P876T	CECR2_ENST00000400573.4_Missense_Mutation_p.P875T|CECR2_ENST00000400585.2_Missense_Mutation_p.P734T	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	917					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCGCGTCTGCCCCCCAGGTGT	0.642													42	97					2.46787e-29	4.09371e-29	1	0	A	18022521	C	A	18022521	3	1	27	1	0	0	0	0	1	0	0	0	3235	623	22	4	2683	4	CECR2	22	18022521	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08		18022521	33282045	710	5778											
RTDR1	27156	broad.mit.edu	37	chr22	23404068	23404068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggtctttcagcagatggaCcaggatggggatgacgtcaa	10	9	15	7	1	3	2	2	1	1	1	3	5	3	5	1	5	1	1	1	5	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:23404068C>A	ENST00000216036.4	-	6	905	c.709G>T	c.(709-711)Gtc>Ttc	p.V237F		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	237							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		AGCAGATGGACCAGGATGGGG	0.572													13	51					9.31168e-06	1.05988e-05	1	0	A	23404068	C	A	23404068	3	1	27	1	0	0	0	0	1	0	0	0	13804	507	18	4	345	4	RTDR1	22	23404068	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	5381547	23404068	27900498	711	5779											
MYO18B	84700	broad.mit.edu	37	chr22	26423551	26423551	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgacttgcgggtgacggTggcgagcgaacgtcccccga	7	5	15	14	7	0	1	0	1	0	0	1	5	1	1	3	3	3	0	3	3	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:26423551T>A	ENST00000335473.7	+	43	7861	c.7611T>A	c.(7609-7611)ggT>ggA	p.G2537G	MYO18B_ENST00000407587.2_Silent_p.G2538G|MYO18B_ENST00000536101.1_Silent_p.G2537G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2537						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGGTGACGGTGGCGAGCGAA	0.567													8	27					0	0	0	0	A	26423551	T	A	26423551	2	1	27	1	0	0	0	0	0	0	0	1	10136	1683	59	5		5	MYO18B	22	26423551	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	3019483	26423551	24881015	712	5780											
NEFH	4744	broad.mit.edu	37	chr22	29885768	29885768	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggccaagtccccagtgaaGgaagaagcaaagtcccctga	15	4	11	11	0	0	3	0	2	0	1	2	4	2	4	5	2	1	1	5	2	6	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:29885768G>A	ENST00000310624.6	+	4	2172	c.2139G>A	c.(2137-2139)aaG>aaA	p.K713K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	719	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCAGTGAAGGAAGAAGCAA	0.557													26	106					0	0	0	0	A	29885768	G	A	29885768	2	1	27	1	0	0	0	0	0	0	0	1	10384	991	35	4		4	NEFH	22	29885768	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3462217	29885768	21418798	713	5781											
PATZ1	23598	broad.mit.edu	37	chr22	31737633	31737633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggtcgctaggaagaggttCcaggggcggcaggccgctgc	7	5	18	11	3	0	1	0	0	0	1	2	2	1	2	2	7	1	4	2	7	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:31737633C>T	ENST00000215919.3	-	3	1545	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	PATZ1_ENST00000405309.3_Intron|PATZ1_ENST00000266269.5_Intron|PATZ1_ENST00000351933.4_Intron	NM_032051.1	NP_114440.1	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	0					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GGAAGAGGTTCCAGGGGCGGC	0.622													20	64					0	0	0	0	T	31737633	C	T	31737633	3	4	27	1	0	0	0	0	1	0	0	0	11547	864	30	2	986	2	PATZ1	22	31737633	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1851865	31737633	19566933	714	5782											
YWHAH	7533	broad.mit.edu	37	chr22	32352730	32352730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgctgcgagacaacctcaCcctctggacgagcgaccagc	9	6	11	15	3	2	1	1	0	1	1	2	5	2	2	3	1	5	2	3	1	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:32352730C>T	ENST00000248975.5	+	2	965	c.692C>T	c.(691-693)aCc>aTc	p.T231I	YWHAH_ENST00000471374.1_3'UTR|YWHAH_ENST00000397492.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	231					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						GACAACCTCACCCTCTGGACG	0.542													4	15					0	0	0	0	T	32352730	C	T	32352730	3	4	27	1	0	0	0	0	1	0	0	0	17600	507	18	4	698	4	YWHAH	22	32352730	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	615097	32352730	18951836	715	5783											
RASD2	23551	broad.mit.edu	37	chr22	35947937	35947937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggcccttctgcatgcGccgcgtcaaggagatggacg	7	6	13	15	4	2	1	1	0	1	1	2	3	2	2	4	3	2	1	4	3	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:35947937G>T	ENST00000216127.4	+	3	1301	c.659G>T	c.(658-660)cGc>cTc	p.R220L		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	220	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						TTCTGCATGCGCCGCGTCAAG	0.632													24	69					4.87955e-14	7.1131e-14	1	0	T	35947937	G	T	35947937	3	4	27	1	0	0	0	0	1	0	0	0	13149	1087	38	3	665	3	RASD2	22	35947937	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3595207	35947937	15356629	716	5784											
EP300	2033	broad.mit.edu	37	chr22	41565564	41565564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccgtcctaaatgcttgagGactgcagtctatcatgaaat	11	13	8	9	1	2	2	1	2	1	0	4	3	4	3	2	1	2	2	2	1	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:41565564G>T	ENST00000263253.7	+	26	5449	c.4230G>T	c.(4228-4230)agG>agT	p.R1410S	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1410					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AATGCTTGAGGACTGCAGTCT	0.328			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				12	29					7.03913e-09	8.93578e-09	1	0	T	41565564	G	T	41565564	3	4	27	1	0	0	0	0	1	0	0	0	5186	1165	41	2	4332	2	EP300	22	41565564	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	5617627	41565564	9739002	717	5785											
TCF20	6942	broad.mit.edu	37	chr22	42607169	42607169	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagacagtatatcatcaagCgtaaccgtgtctcccccagc	13	8	7	13	2	3	1	2	0	1	1	4	1	3	1	3	0	3	2	3	0	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:42607169C>A	ENST00000359486.3	-	1	4279	c.4143G>T	c.(4141-4143)acG>acT	p.T1381T	TCF20_ENST00000335626.4_Silent_p.T1381T	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TATCATCAAGCGTAACCGTGT	0.488													4	100					1	1	1	0	A	42607169	C	A	42607169	2	1	27	1	0	0	0	0	0	0	0	1	15784	755	27	3		3	TCF20	22	42607169	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1041605	42607169	8697397	718	5786											
TCF20	6942	broad.mit.edu	37	chr22	42608932	42608932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctagctaattcattggtttGactaaccaagacattgggcc	11	12	9	9	0	1	2	1	1	0	1	1	2	1	2	2	2	2	3	2	2	4	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:42608932G>C	ENST00000359486.3	-	1	2516	c.2380C>G	c.(2380-2382)Caa>Gaa	p.Q794E	TCF20_ENST00000335626.4_Missense_Mutation_p.Q794E	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	794					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCATTGGTTTGACTAACCAAG	0.502													12	37					0	0	0	0	C	42608932	G	C	42608932	3	2	27	1	0	0	0	0	1	0	0	0	15784	1299	45	2	3540	2	TCF20	22	42608932	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1763	42608932	8695634	719	5787											
ATP5L2	267020	broad.mit.edu	37	chr22	43035992	43035992	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattctagccaatgatgcCacgcttgcctgtgatctctc	9	12	7	13	1	2	2	0	2	2	0	4	2	2	2	3	0	4	1	3	0	3	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:43035992C>G	ENST00000505920.1	-	1	615	c.289G>C	c.(289-291)Ggc>Cgc	p.G97R	CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000402438.1_Intron	NM_001165877.1	NP_001159349.1	Q7Z4Y8	AT5L2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2	97					ATP synthesis coupled proton transport	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			endometrium(1)|kidney(1)	2						CCAATGATGCCACGCTTGCCT	0.428													11	25					0	0	0	0	G	43035992	C	G	43035992	3	3	27	1	0	0	0	0	1	0	0	0	1165	594	21	4	17	4	ATP5L2	22	43035992	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	427060	43035992	8268574	720	5788											
RIBC2	26150	broad.mit.edu	37	chr22	45813702	45813702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacgatatcaggaatgcaGaaattcatgggagaggattt	16	10	11	4	1	2	2	2	0	0	2	2	6	2	4	0	3	2	1	0	3	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:45813702G>T	ENST00000342894.3	+	3	627	c.213G>T	c.(211-213)caG>caT	p.Q71H	RIBC2_ENST00000538017.1_Missense_Mutation_p.Q139H			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	71										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAGGAATGCAGAAATTCATGG	0.453													11	41					6.40141e-05	7.09199e-05	1	0	T	45813702	G	T	45813702	3	4	27	1	0	0	0	0	1	0	0	0	13436	933	33	2	426	2	RIBC2	22	45813702	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2777710	45813702	5490864	721	5789											
FAM9B	171483	broad.mit.edu	37	chrX	9001122	9001122	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgatccccgaacctggtGagcgcaaagacacactaagg	13	4	12	12	3	0	2	0	1	0	1	1	4	1	2	3	3	2	1	3	3	3	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:9001122G>T	ENST00000362066.3	-	1	229	c.41C>A	c.(40-42)tCa>tAa	p.S14*	FAM9B_ENST00000327220.5_Intron			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	0						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CGAACCTGGTGAGCGCAAAGA	0.592													6	15					0.00116845	0.00124037	1	0	T	9001122	G	T	9001122	4	4	27	1	0	0	0	0	0	1	0	0	5705	1305	45	2		2	FAM9B	23	9001122	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08		9001122	146269438	722	5790											
ACE2	59272	broad.mit.edu	37	chrX	15603612	15603612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctacctggtccaccattgCatcagtaacatctatgtttg	9	14	6	12	0	2	0	1	0	1	0	4	0	4	0	4	1	3	3	4	1	3	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:15603612C>T	ENST00000427411.1	-	8	1102	c.886G>A	c.(886-888)Gca>Aca	p.A296T	ACE2_ENST00000252519.3_Missense_Mutation_p.A296T	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	296					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TCCACCATTGCATCAGTAACA	0.318													23	58					0	0	0	0	T	15603612	C	T	15603612	3	4	27	1	0	0	0	0	1	0	0	0	137	710	25	4	1579	4	ACE2	23	15603612	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	6602490	15603612	139666948	723	5791											
CDKL5	6792	broad.mit.edu	37	chrX	18622162	18622162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctaaatggaaaccttgctgGagctagtcttagtccactgc	10	11	9	11	0	1	0	0	0	1	0	2	2	2	2	3	2	4	2	3	2	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:18622162G>T	ENST00000379989.3	+	13	1403	c.1118G>T	c.(1117-1119)gGa>gTa	p.G373V	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.G373V	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	373					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AACCTTGCTGGAGCTAGTCTT	0.512													57	111					2.23044e-30	3.70658e-30	1	0	T	18622162	G	T	18622162	3	4	27	1	0	0	0	0	1	0	0	0	3186	1174	41	2	1160	2	CDKL5	23	18622162	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3018550	18622162	136648398	724	5792											
SH3KBP1	30011	broad.mit.edu	37	chrX	19702001	19702001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtcttagtttgattggCttgtctttgaaaatgtctcc	6	19	9	7	0	3	2	0	2	3	0	4	2	3	2	1	2	0	2	1	2	3	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:19702001C>A	ENST00000397821.3	-	6	956	c.666G>T	c.(664-666)aaG>aaT	p.K222N	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.K266N|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.K185N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	222					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GTTTGATTGGCTTGTCTTTGA	0.438													35	90					4.00102e-26	6.58906e-26	1	0	A	19702001	C	A	19702001	3	1	27	1	0	0	0	0	1	0	0	0	14343	796	28	4	1399	4	SH3KBP1	23	19702001	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1079839	19702001	135568559	725	5793											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998581	27998581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctggctccagagccaactCgtgggcaggtcccctgtgct	5	9	13	14	1	1	1	0	0	1	1	4	1	3	1	4	3	3	3	4	3	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:27998581C>T	ENST00000441525.1	-	1	985	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	291										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGAGCCAACTCGTGGGCAGGT	0.512													17	34					0	0	0	0	T	27998581	C	T	27998581	3	4	27	1	0	0	0	0	1	0	0	0	4310	893	31	1	935	1	DCAF8L1	23	27998581	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	8296580	27998581	127271979	726	5794											
MAGEB1	4112	broad.mit.edu	37	chrX	30269432	30269432	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcaattcctatggggtccGagagcctatgctgaaaccac	11	10	9	11	1	1	2	1	1	0	1	3	3	3	2	4	2	3	1	4	2	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:30269432G>A	ENST00000378981.3	+	4	1143	c.822G>A	c.(820-822)ccG>ccA	p.P274P	MAGEB1_ENST00000397550.1_Silent_p.P274P|MAGEB1_ENST00000397548.2_Silent_p.P274P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	274	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TATGGGGTCCGAGAGCCTATG	0.502													23	54					0	0	0	0	A	30269432	G	A	30269432	2	1	27	1	0	0	0	0	0	0	0	1	9241	1045	37	1		1	MAGEB1	23	30269432	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2270851	30269432	125001128	727	5795											
ZNF157	7712	broad.mit.edu	37	chrX	47272914	47272914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggaaagctttctgccGgaaagcacacctcacagaac	13	7	10	11	1	2	1	1	0	1	1	2	3	2	3	2	2	4	2	2	2	3	1	rs144915700		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:47272914G>T	ENST00000377073.3	+	4	1528	c.1442G>T	c.(1441-1443)cGg>cTg	p.R481L		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	481					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GCTTTCTGCCGGAAAGCACAC	0.473													19	32					7.41877e-09	9.39163e-09	1	0	T	47272914	G	T	47272914	3	4	27	1	0	0	0	0	1	0	0	0	17832	1116	39	3	1456	3	ZNF157	23	47272914	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	17003482	47272914	107997646	728	5796											
SHROOM4	57477	broad.mit.edu	37	chrX	50350537	50350537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggattcttgctctgctGggacactttgtgaaccctgt	8	13	10	10	0	2	1	0	1	2	0	2	3	2	3	1	2	3	2	1	2	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:50350537G>T	ENST00000376020.2	-	6	3630	c.3605C>A	c.(3604-3606)cCa>cAa	p.P1202Q	SHROOM4_ENST00000460112.3_Missense_Mutation_p.P1086Q|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P1202Q	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1202					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTGCTCTGCTGGGACACTTTG	0.552													15	37					0.00400662	0.00418521	1	0	T	50350537	G	T	50350537	3	4	27	1	0	0	0	0	1	0	0	0	14384	1348	47	4	892	4	SHROOM4	23	50350537	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	3077623	50350537	104920023	729	5797											
MTMR8	55613	broad.mit.edu	37	chrX	63488477	63488477	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagatgcctgtgtccccCaagatgcccatgtccccaga	8	9	10	14	0	0	3	0	0	0	3	2	4	2	3	6	1	2	0	6	1	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:63488477C>G	ENST00000374852.3	-	14	2122	c.2055G>C	c.(2053-2055)ttG>ttC	p.L685F	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	685						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CTGTGTCCCCCAAGATGCCCA	0.532													18	30					0	0	0	0	G	63488477	C	G	63488477	3	3	27	1	0	0	0	0	1	0	0	0	10019	593	21	4	63	4	MTMR8	23	63488477	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	13137940	63488477	91782083	730	5798											
HEPH	9843	broad.mit.edu	37	chrX	65474968	65474968	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggatctattattctgcAgtggatcccatcaaggtaaa	11	13	8	9	0	3	0	1	0	2	0	5	2	5	2	2	3	1	2	2	3	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:65474968A>G	ENST00000519389.1	+	16	2996	c.2817A>G	c.(2815-2817)gcA>gcG	p.A939A	HEPH_ENST00000343002.2_Silent_p.A885A|HEPH_ENST00000336279.5_Silent_p.A618A|HEPH_ENST00000374727.3_Silent_p.A888A|HEPH_ENST00000441993.2_Silent_p.A888A|HEPH_ENST00000419594.1_Silent_p.A696A			Q9BQS7	HEPH_HUMAN	hephaestin	885	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATTATTCTGCAGTGGATCCCA	0.478													14	27					0	0	0	0	G	65474968	A	G	65474968	2	3	27	1	0	0	0	0	0	0	0	1	7104	175	7	5		5	HEPH	23	65474968	Silent	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	1986491	65474968	89795592	731	5799											
DLG3	1741	broad.mit.edu	37	chrX	69670069	69670069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaccagcacatcccaggaGacaacagcatctacatcacc	15	4	6	16	0	2	1	1	0	1	1	3	2	3	1	3	1	5	3	3	1	3	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:69670069G>A	ENST00000194900.4	+	6	1149	c.808G>A	c.(808-810)Gac>Aac	p.D270N	DLG3_ENST00000374360.3_Missense_Mutation_p.D252N			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	252	PDZ 2.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CATCCCAGGAGACAACAGCAT	0.582													4	13					0	0	0	0	A	69670069	G	A	69670069	3	1	27	1	0	0	0	0	1	0	0	0	4593	942	33	2	772	2	DLG3	23	69670069	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	4195101	69670069	85600491	732	5800											
SLC7A3	84889	broad.mit.edu	37	chrX	70147853	70147853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catcgggatggaacgctgggGattctgggcttcttctcctg	5	12	14	10	2	3	0	0	0	3	0	5	3	3	3	1	5	1	2	1	5	1	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:70147853G>A	ENST00000374299.3	-	6	982	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	SLC7A3_ENST00000298085.4_Missense_Mutation_p.P280S			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	280					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GAACGCTGGGGATTCTGGGCT	0.527													9	30					0	0	0	0	A	70147853	G	A	70147853	3	1	27	1	0	0	0	0	1	0	0	0	14786	1174	41	2	1049	2	SLC7A3	23	70147853	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	477784	70147853	85122707	733	5801											
CYLC1	1538	broad.mit.edu	37	chrX	83128482	83128482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttagtgggacagtctgatGatgaatccataaattttgat	12	15	10	4	0	1	4	0	4	1	0	2	5	2	5	1	1	0	1	1	1	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:83128482G>T	ENST00000329312.4	+	4	803	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	256					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACAGTCTGATGATGAATCCAT	0.313													8	17					0.000157383	0.000171862	1	0	T	83128482	G	T	83128482	3	4	27	1	0	0	0	0	1	0	0	0	4173	1290	45	2	780	2	CYLC1	23	83128482	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	12980629	83128482	72142078	734	5802											
PCDH11X	27328	broad.mit.edu	37	chrX	91090605	91090605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaccatccgagaagaaatGccagaaaacgtcctgatagg	16	6	9	10	2	0	4	0	1	0	3	2	5	2	4	4	1	3	0	4	1	6	2	rs2524441		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:91090605G>T	ENST00000373094.1	+	1	947	c.102G>T	c.(100-102)atG>atT	p.M34I	PCDH11X_ENST00000504220.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.M34I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.M34I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.M34I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.M34I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	34	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAGAAGAAATGCCAGAAAACG	0.488													12	26					4.36969e-10	5.69743e-10	1	0	T	91090605	G	T	91090605	3	4	27	1	0	0	0	0	1	0	0	0	11579	1319	46	4	104	4	PCDH11X	23	91090605	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	7962123	91090605	64179955	735	5803											
SRPX2	27286	broad.mit.edu	37	chrX	99917255	99917255	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaggaaattatcacagcagCctgggcacgcgttgtgagct	10	8	14	9	2	1	1	1	1	0	0	1	3	1	3	1	3	3	4	1	3	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:99917255C>T	ENST00000373004.3	+	4	674	c.246C>T	c.(244-246)agC>agT	p.S82S		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	82	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ATCACAGCAGCCTGGGCACGC	0.522													24	65					0	0	0	0	T	99917255	C	T	99917255	2	4	27	1	0	0	0	0	0	0	0	1	15255	738	26	4		4	SRPX2	23	99917255	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	8826650	99917255	55353305	736	5804											
AMMECR1	9949	broad.mit.edu	37	chrX	109441841	109441841	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtattcagcatagctcagGgtcatcttttcactacgata	11	13	8	9	1	5	0	4	0	1	0	5	1	5	0	0	2	3	3	0	2	4	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:109441841G>A	ENST00000262844.5	-	6	1076	c.909C>T	c.(907-909)acC>acT	p.T303T	AMMECR1_ENST00000372057.1_Silent_p.T180T|AMMECR1_ENST00000372059.2_Silent_p.T266T	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	303	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CATAGCTCAGGGTCATCTTTT	0.448													13	20					0	0	0	0	A	109441841	G	A	109441841	2	1	27	1	0	0	0	0	0	0	0	1	578	1219	43	4		4	AMMECR1	23	109441841	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	9524586	109441841	45828719	737	5805											
DCX	1641	broad.mit.edu	37	chrX	110653581	110653581	+	Missense_Mutation	SNP	T	T	C																															ccgggagcctcgcatgttccTggatgtcttatctctttcgt																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:110653581T>C	ENST00000338081.3	-	2	460	c.289A>G	c.(289-291)Agg>Ggg	p.R97G	DCX_ENST00000488120.1_Missense_Mutation_p.R16G|DCX_ENST00000356915.2_Missense_Mutation_p.R16G|DCX_ENST00000356220.3_Missense_Mutation_p.R16G|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.R16G	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	97					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CGCATGTTCCTGGATGTCTTA	0.517													29	75					0	0	0	0	C	110653581	T	C	110653581	3	2	27	1	0	0	0	0	1	0	0	0	4350	1579	55	5	1075	5	DCX	23	110653581	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1211740	110653581	44616979	738	5806	59	2									
DCX	1641	broad.mit.edu	37	chrX	110653583	110653583	+	Missense_Mutation	SNP	G	G	A																															gggagcctcgcatgttcctgGatgtcttatctctttcgtca																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:110653583G>A	ENST00000338081.3	-	2	458	c.287C>T	c.(286-288)tCc>tTc	p.S96F	DCX_ENST00000488120.1_Missense_Mutation_p.S15F|DCX_ENST00000356915.2_Missense_Mutation_p.S15F|DCX_ENST00000356220.3_Missense_Mutation_p.S15F|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.S15F	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	96					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CATGTTCCTGGATGTCTTATC	0.517													27	75					0	0	0	0	A	110653583	G	A	110653583	3	1	27	1	0	0	0	0	1	0	0	0	4350	1174	41	2	1077	2	DCX	23	110653583	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2	110653583	44616977	739	5807	59	2									
IL13RA1	3597	broad.mit.edu	37	chrX	117900505	117900505	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcaaggtccaagaggctAaatgtgagaatccagaattt	14	12	9	6	0	1	3	1	1	0	3	3	4	3	3	2	2	0	1	2	2	6	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:117900505A>G	ENST00000371666.3	+	7	908	c.841A>G	c.(841-843)Aaa>Gaa	p.K281E	IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	281						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						CCAAGAGGCTAAATGTGAGAA	0.343													19	51					0	0	0	0	G	117900505	A	G	117900505	3	3	27	1	0	0	0	0	1	0	0	0	7682	363	13	5	867	5	IL13RA1	23	117900505	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	7246922	117900505	37370055	740	5808											
LONRF3	79836	broad.mit.edu	37	chrX	118124510	118124510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcatctgaccttgaatgcGctctatgtatgaggtacgtc	9	12	10	10	3	2	3	0	3	2	0	3	3	2	3	1	1	2	4	1	1	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:118124510G>T	ENST00000365713.2	+	4	1442	c.1279G>T	c.(1279-1281)Gct>Tct	p.A427S	LONRF3_ENST00000304778.7_Missense_Mutation_p.A427S|LONRF3_ENST00000422289.2_Missense_Mutation_p.A212S|LONRF3_ENST00000371628.3_Missense_Mutation_p.A468S|LONRF3_ENST00000472173.1_3'UTR			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	468					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.A468T(1)|p.A427T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CCTTGAATGCGCTCTATGTAT	0.468													24	55					1.64293e-13	2.36479e-13	1	0	T	118124510	G	T	118124510	3	4	27	1	0	0	0	0	1	0	0	0	8960	1087	38	3	1420	3	LONRF3	23	118124510	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	224005	118124510	37146050	741	5809											
KIAA1210	57481	broad.mit.edu	37	chrX	118219356	118219356	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtcctacctcatatttaGgctccttagtctcagcatcg	8	13	7	13	1	2	0	2	0	1	0	6	0	4	0	3	2	2	2	3	2	4	5			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:118219356G>C	ENST00000402510.2	-	12	4837	c.4838C>G	c.(4837-4839)cCt>cGt	p.P1613R		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1613										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTCATATTTAGGCTCCTTAGT	0.448													56	104					0	0	0	0	C	118219356	G	C	118219356	3	2	27	1	0	0	0	0	1	0	0	0	8265	1000	35	4	303	4	KIAA1210	23	118219356	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	94846	118219356	37051204	742	5810											
NKAP	79576	broad.mit.edu	37	chrX	119077278	119077278	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgccgtaatagactgaCgaggaggcagaagcgaaggg	13	5	16	7	3	0	3	0	1	0	2	0	6	0	4	1	3	3	3	1	3	5	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:119077278C>A	ENST00000371410.3	-	1	457	c.291G>T	c.(289-291)tcG>tcT	p.S97S		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	97	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AATAGACTGACGAGGAGGCAG	0.657													15	40					3.32936e-07	4.00399e-07	1	0	A	119077278	C	A	119077278	2	1	27	1	0	0	0	0	0	0	0	1	10509	523	19	3		3	NKAP	23	119077278	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	857922	119077278	36193282	743	5811											
ATP1B4	23439	broad.mit.edu	37	chrX	119504590	119504590	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctgatcttactcatttacTtcttcttctatgcctccttg	5	19	4	13	0	5	1	1	1	4	0	6	1	6	1	3	0	3	0	3	0	3	8			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:119504590T>C	ENST00000218008.3	+	3	406	c.349T>C	c.(349-351)Ttc>Ctc	p.F117L	ATP1B4_ENST00000539306.1_Intron|ATP1B4_ENST00000361319.3_Missense_Mutation_p.F113L	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	117					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						ACTCATTTACTTCTTCTTCTA	0.483													63	140					0	0	0	0	C	119504590	T	C	119504590	3	2	27	1	0	0	0	0	1	0	0	0	1139	1609	56	5	359	5	ATP1B4	23	119504590	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	427312	119504590	35765970	744	5812											
GLUD2	2747	broad.mit.edu	37	chrX	120181994	120181994	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagggaggtatccgttaCagcactgatgtgagtgtaga	11	10	14	6	1	0	3	0	2	0	1	1	4	1	4	1	2	3	5	1	2	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:120181994C>A	ENST00000328078.1	+	1	533	c.456C>A	c.(454-456)taC>taA	p.Y152*		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	152					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTATCCGTTACAGCACTGATG	0.577													25	63					7.88262e-20	1.26621e-19	1	0	A	120181994	C	A	120181994	4	1	27	1	0	0	0	0	0	1	0	0	6528	489	17	4	458	4	GLUD2	23	120181994	Nonsense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	677404	120181994	35088566	745	5813											
ARHGEF6	9459	broad.mit.edu	37	chrX	135764128	135764128	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctattggtatttttccCtattagaaaaagaacattct	12	16	5	8	0	1	2	0	0	1	2	2	2	2	2	2	1	2	2	2	1	7	8			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:135764128C>A	ENST00000250617.6	-	14	2685		c.e14-1		ARHGEF6_ENST00000370620.1_Splice_Site|ARHGEF6_ENST00000535227.1_Splice_Site|ARHGEF6_ENST00000370622.1_Splice_Site	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6						apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GTATTTTTCCCTATTAGAAAA	0.358													20	33					4.96729e-08	6.13527e-08	1	0	A	135764128	C	A	135764128	5	1	27	1	0	0	0	0	0	0	1	0	912	695	24	4	887	4	ARHGEF6	23	135764128	Splice_Site	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	15582134	135764128	19506432	746	5814											
ATP11C	286410	broad.mit.edu	37	chrX	138880488	138880488	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagttcaaagccattttggtTtccattccagtgtaaacagc	11	14	7	9	0	1	0	1	0	0	0	3	0	3	0	3	1	3	3	3	1	4	7			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:138880488T>C	ENST00000370557.1	-	10	1828	c.801A>G	c.(799-801)gaA>gaG	p.E267E	ATP11C_ENST00000327569.3_Silent_p.E270E|ATP11C_ENST00000370543.1_Silent_p.E270E|ATP11C_ENST00000361648.2_Silent_p.E270E|ATP11C_ENST00000359686.2_Silent_p.E270E			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	270					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CCATTTTGGTTTCCATTCCAG	0.343													23	58					0	0	0	0	C	138880488	T	C	138880488	2	2	27	1	0	0	0	0	0	0	0	1	1125	1838	64	5		5	ATP11C	23	138880488	Silent	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	3116360	138880488	16390072	747	5815											
MAGEC2	51438	broad.mit.edu	37	chrX	141291252	141291252	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacaggaaagtaatctttGtacttgatgacaatcatcag	15	12	7	7	0	4	2	3	2	1	0	4	3	4	3	0	1	1	2	0	1	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:141291252G>T	ENST00000247452.3	-	3	869	c.522C>A	c.(520-522)taC>taA	p.Y174*		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	174	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGTAATCTTTGTACTTGATGA	0.478										HNSCC(46;0.14)			43	149					4.44401e-20	7.16372e-20	1	0	T	141291252	G	T	141291252	4	4	27	1	0	0	0	0	0	1	0	0	9250	1372	48	4	603	4	MAGEC2	23	141291252	Nonsense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	2410764	141291252	13979308	748	5816											
SLITRK4	139065	broad.mit.edu	37	chrX	142717002	142717002	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgttgcgtcgcaggacAaaaacaagaaggcaaaaagc	16	7	10	8	2	1	1	0	0	1	1	2	2	1	2	0	2	3	3	0	2	6	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:142717002A>C	ENST00000381779.4	-	2	2148	c.1923T>G	c.(1921-1923)ttT>ttG	p.F641L	SLITRK4_ENST00000356928.1_Missense_Mutation_p.F641L|SLITRK4_ENST00000338017.4_Missense_Mutation_p.F641L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	641						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)					GTCGCAGGACAAAAACAAGAA	0.478													31	114					0	0	0	0	C	142717002	A	C	142717002	3	2	27	1	0	0	0	0	1	0	0	0	14833	127	5	5	594	5	SLITRK4	23	142717002	Missense_Mutation	SNP	A	TCGA-BA-A6DA-01A-31D-A31L-08	1425750	142717002	12553558	749	5817											
SLITRK4	139065	broad.mit.edu	37	chrX	142717055	142717055	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaatgaggaccactaagaTacttaagattaaaatagaca	21	9	6	5	0	0	4	0	1	0	3	0	5	0	5	1	1	1	0	1	1	8	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:142717055T>A	ENST00000381779.4	-	2	2095	c.1870A>T	c.(1870-1872)Atc>Ttc	p.I624F	SLITRK4_ENST00000356928.1_Missense_Mutation_p.I624F|SLITRK4_ENST00000338017.4_Missense_Mutation_p.I624F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	624						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)					ACCACTAAGATACTTAAGATT	0.478													30	101					0	0	0	0	A	142717055	T	A	142717055	3	1	27	1	0	0	0	0	1	0	0	0	14833	1406	49	5	647	5	SLITRK4	23	142717055	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	53	142717055	12553505	750	5818											
SLITRK4	139065	broad.mit.edu	37	chrX	142718335	142718335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaatgtgttccagaaccCcgatataagggagcttctgg	10	9	12	10	1	1	1	0	0	1	1	2	3	2	2	4	3	2	2	4	3	4	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:142718335C>A	ENST00000381779.4	-	2	815	c.590G>T	c.(589-591)gGg>gTg	p.G197V	SLITRK4_ENST00000356928.1_Missense_Mutation_p.G197V|SLITRK4_ENST00000338017.4_Missense_Mutation_p.G197V	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	197						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)					TTCCAGAACCCCGATATAAGG	0.438													24	71					5.35356e-11	7.1642e-11	1	0	A	142718335	C	A	142718335	3	1	27	1	0	0	0	0	1	0	0	0	14833	623	22	4	1927	4	SLITRK4	23	142718335	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1280	142718335	12552225	751	5819											
UBE2NL	389898	broad.mit.edu	37	chrX	142967296	142967296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaccagatgaaagcaacGcccgttattttcatgtggtc	12	10	9	10	2	1	3	1	1	0	2	2	3	1	3	2	1	3	2	2	1	4	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:142967296G>T	ENST00000370494.1	+	1	124	c.94G>T	c.(94-96)Gcc>Tcc	p.A32S		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	32							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAAGCAACGCCCGTTATTT	0.493													36	120					4.11147e-13	5.82618e-13	1	0	T	142967296	G	T	142967296	3	4	27	1	0	0	0	0	1	0	0	0	16963	1087	38	3	96	3	UBE2NL	23	142967296	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	248961	142967296	12303264	752	5820											
SPANXN1	494118	broad.mit.edu	37	chrX	144337333	144337333	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagaatgaccagtcctGagagaactccatcaatccag	14	7	9	11	0	1	4	1	2	0	2	4	6	4	4	4	1	1	0	4	1	3	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:144337333G>T	ENST00000370493.3	+	2	977	c.218G>T	c.(217-219)tGa>tTa	p.*73L		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	0										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GACCAGTCCTGAGAGAACTCC	0.423													17	102					1.45105e-14	2.14605e-14	1	0	T	144337333	G	T	144337333	4	4	27	1	0	0	0	0	0	0	0	0	15080	1285	45	2	224	2	SPANXN1	23	144337333	Nonstop_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1370037	144337333	10933227	753	5821											
SLITRK2	84631	broad.mit.edu	37	chrX	144904343	144904343	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggacaccttcctaggcctgGagagcctggagtatctccag	9	8	12	12	0	1	1	0	0	1	1	3	4	2	3	5	4	1	1	5	4	2	3			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:144904343G>C	ENST00000370490.1	+	1	4655	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	SLITRK2_ENST00000447897.2_Missense_Mutation_p.E134Q|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E134Q|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E134Q|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E134Q			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	134						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTAGGCCTGGAGAGCCTGGA	0.498													36	66					0	0	0	0	C	144904343	G	C	144904343	3	2	27	1	0	0	0	0	1	0	0	0	14831	1175	41	2	402	2	SLITRK2	23	144904343	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	567010	144904343	10366217	754	5822											
AFF2	2334	broad.mit.edu	37	chrX	148048358	148048358	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggcatcctctgccaccatCactgtcaccaatactgctat	11	10	5	15	0	3	0	2	0	1	0	4	0	4	0	4	1	3	2	4	1	4	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:148048358C>G	ENST00000370460.2	+	14	3431	c.2952C>G	c.(2950-2952)atC>atG	p.I984M	AFF2_ENST00000370457.5_Missense_Mutation_p.I949M|AFF2_ENST00000342251.3_Missense_Mutation_p.I951M|AFF2_ENST00000286437.5_Missense_Mutation_p.I625M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	984					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCCACCATCACTGTCACCA	0.493													27	118					0	0	0	0	G	148048358	C	G	148048358	3	3	27	1	0	0	0	0	1	0	0	0	357	816	29	2	3061	2	AFF2	23	148048358	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	3144015	148048358	7222202	755	5823											
GPR50	9248	broad.mit.edu	37	chrX	150348694	150348694	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctacgtgaggatctggacCaaagtgctggcggcccgtga	8	8	15	10	3	1	2	0	2	1	0	1	4	1	4	2	4	3	2	2	4	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:150348694C>A	ENST00000218316.3	+	2	708	c.639C>A	c.(637-639)acC>acA	p.T213T		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	213					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GGATCTGGACCAAAGTGCTGG	0.512													29	111					1.13719e-10	1.50637e-10	1	0	A	150348694	C	A	150348694	2	1	27	1	0	0	0	0	0	0	0	1	6746	581	21	4		4	GPR50	23	150348694	Silent	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	2300336	150348694	4921866	756	5824											
GPR50	9248	broad.mit.edu	37	chrX	150349070	150349070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtaccctggcccgcgccCgtgcccatgctcgcgaccaa	5	5	10	21	6	0	0	0	0	0	0	1	1	0	0	6	1	3	2	6	1	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:150349070C>A	ENST00000218316.3	+	2	1084	c.1015C>A	c.(1015-1017)Cgt>Agt	p.R339S		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	339	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCGCGCCCGTGCCCATGC	0.577													53	141					9.72345e-25	1.59555e-24	1	0	A	150349070	C	A	150349070	3	1	27	1	0	0	0	0	1	0	0	0	6746	652	23	3	1021	3	GPR50	23	150349070	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	376	150349070	4921490	757	5825											
GABRQ	55879	broad.mit.edu	37	chrX	151821293	151821293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttttcctaccgaaatccGcaaccgtgtcgaagcccatg	10	11	7	13	4	0	0	0	0	0	0	3	2	2	0	5	0	3	1	5	0	5	4			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:151821293G>T	ENST00000370306.2	+	9	1468	c.1448G>T	c.(1447-1449)cGc>cTc	p.R483L		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	483						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGAAATCCGCAACCGTGTC	0.557													38	167					1.30998e-17	2.03627e-17	1	0	T	151821293	G	T	151821293	3	4	27	1	0	0	0	0	1	0	0	0	6223	1087	38	3	1482	3	GABRQ	23	151821293	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	1472223	151821293	3449267	758	5826											
CETN2	1069	broad.mit.edu	37	chrX	151997742	151997742	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaagttcatttttcctGtcccttccttatcaatttca	9	17	2	13	0	3	0	3	0	0	0	6	0	6	0	4	0	0	1	4	0	3	6			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:151997742G>C	ENST00000370277.3	-	3	308	c.242C>G	c.(241-243)aCa>aGa	p.T81R	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	81	EF-hand 2.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CATTTTTCCTGTCCCTTCCTT	0.398								Direct reversal of damage;Nucleotide excision repair (NER)					27	79					0	0	0	0	C	151997742	G	C	151997742	3	2	27	1	0	0	0	0	1	0	0	0	3304	1377	48	4	288	4	CETN2	23	151997742	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	176449	151997742	3272818	759	5827											
NSDHL	50814	broad.mit.edu	37	chrX	152036165	152036165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtggagaacgtggtccatgGacacatcctggcggcagagc	9	7	15	10	2	0	2	0	0	0	2	2	4	2	3	2	5	2	1	2	5	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:152036165G>A	ENST00000370274.3	+	7	931	c.737G>A	c.(736-738)gGa>gAa	p.G246E	NSDHL_ENST00000440023.1_Missense_Mutation_p.G246E	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	246					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GTGGTCCATGGACACATCCTG	0.587													18	80					0	0	0	0	A	152036165	G	A	152036165	3	1	27	1	0	0	0	0	1	0	0	0	10741	1174	41	2	759	2	NSDHL	23	152036165	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	38423	152036165	3234395	760	5828											
ZNF185	7739	broad.mit.edu	37	chrX	152088889	152088889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggtcagaggctgcaagcgGtgttctgaggaggacagctc	9	7	16	9	1	2	2	1	1	1	1	3	4	2	4	0	5	3	4	0	5	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:152088889G>A	ENST00000535861.1	+	8	596	c.548G>A	c.(547-549)gGt>gAt	p.G183D	ZNF185_ENST00000539731.1_Missense_Mutation_p.G183D|ZNF185_ENST00000324823.6_Missense_Mutation_p.G48D|ZNF185_ENST00000318529.8_Intron|ZNF185_ENST00000370270.1_Missense_Mutation_p.G43D|ZNF185_ENST00000318504.7_Missense_Mutation_p.G183D|ZNF185_ENST00000370268.4_Missense_Mutation_p.G183D|ZNF185_ENST00000449285.2_Missense_Mutation_p.G183D	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	183						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCAAGCGGTGTTCTGAGG	0.632													14	50					0	0	0	0	A	152088889	G	A	152088889	3	1	27	1	0	0	0	0	1	0	0	0	17847	1261	44	4	593	4	ZNF185	23	152088889	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	52724	152088889	3181671	761	5829											
ZNF185	7739	broad.mit.edu	37	chrX	152106684	152106684	+	Frame_Shift_Del	DEL	G	G	-																															aacagcacagcagcccaggaGgatgcaaaggcagacccaaa																										TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:152106684delG	ENST00000535861.1	+	16	1329	c.1281delG	c.(1279-1281)gafs	p.E427fs	ZNF185_ENST00000318504.7_Frame_Shift_Del_p.E336fs|ZNF185_ENST00000370268.4_Frame_Shift_Del_p.E395fs|ZNF185_ENST00000370270.1_Frame_Shift_Del_p.E158fs|ZNF185_ENST00000539731.1_Frame_Shift_Del_p.E398fs|ZNF185_ENST00000318529.8_Frame_Shift_Del_p.E174fs|ZNF185_ENST00000449285.2_Frame_Shift_Del_p.E396fs|ZNF185_ENST00000324823.6_Frame_Shift_Del_p.E163fs	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	395						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCCAGGAGGATGCAAAGG	0.567													2	4	---	---	---	---					-	152106684	G	-	152106684	7	5	27	1	0	1	0	1	0	0	0	0	17847	991	35	0	1361	0	ZNF185	23	152106684	Frame_Shift_Del	DEL	G	TCGA-BA-A6DA-01A-31D-A31L-08	17795	152106684	3163876	762	5830											
L1CAM	3897	broad.mit.edu	37	chrX	153134345	153134345	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgcacagaaggtaggCagtgctgccctggacagcca	9	6	14	12	0	0	1	0	0	0	1	0	2	0	2	3	4	4	4	3	4	2	2			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:153134345C>A	ENST00000370060.1	-	12	1519	c.1330G>T	c.(1330-1332)Gcc>Tcc	p.A444S	L1CAM_ENST00000370057.3_Missense_Mutation_p.A444S|L1CAM_ENST00000543994.1_Missense_Mutation_p.A446S|L1CAM_ENST00000538883.1_Missense_Mutation_p.A446S|L1CAM_ENST00000370055.1_Missense_Mutation_p.A439S|L1CAM_ENST00000361699.4_Missense_Mutation_p.A444S|L1CAM_ENST00000361981.3_Missense_Mutation_p.A439S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	444	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGGTAGGCAGTGCTGCCC	0.602													39	152					5.04308e-16	7.66951e-16	1	0	A	153134345	C	A	153134345	3	1	27	1	0	0	0	0	1	0	0	0	8641	710	25	4	2515	4	L1CAM	23	153134345	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	1027661	153134345	2136215	763	5831											
FLNA	2316	broad.mit.edu	37	chrX	153588586	153588586	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagcagatctcaatggtcaGctccgcgctgcccgcgctcg	6	7	12	16	6	2	1	2	0	1	1	5	2	3	1	2	1	3	4	2	1	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:153588586G>C	ENST00000422373.1	-	22	3825	c.3577C>G	c.(3577-3579)Ctg>Gtg	p.L1193V	FLNA_ENST00000360319.4_Missense_Mutation_p.L1193V|FLNA_ENST00000369850.3_Missense_Mutation_p.L1193V|FLNA_ENST00000344736.4_Missense_Mutation_p.L1193V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1193					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAATGGTCAGCTCCGCGCTG	0.657											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	28	74					0	0	0	0	C	153588586	G	C	153588586	3	2	27	1	0	0	0	0	1	0	0	0	5978	962	34	4	4474	4	FLNA	23	153588586	Missense_Mutation	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	454241	153588586	1681974	764	5832											
FLNA	2316	broad.mit.edu	37	chrX	153594929	153594929	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccccctggccaagggctcaCcttatgagtccccgtcacct	6	8	8	19	1	2	1	2	1	0	0	3	1	3	1	8	2	0	1	8	2	2	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:153594929C>A	ENST00000422373.1	-	7	1314		c.e7+1		FLNA_ENST00000360319.4_Splice_Site|FLNA_ENST00000369850.3_Splice_Site|FLNA_ENST00000344736.4_Splice_Site	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha						actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGGGCTCACCTTATGAGTC	0.632													15	76					1.3612e-06	1.60534e-06	1	0	A	153594929	C	A	153594929	5	1	27	1	0	0	0	0	0	0	1	0	5978	521	18	4	7045	4	FLNA	23	153594929	Splice_Site	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	6343	153594929	1675631	765	5833											
FAM3A	60343	broad.mit.edu	37	chrX	153741192	153741192	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagccactgccaggcccacCcaggaggatgctgaccacga	12	3	11	15	1	0	1	0	1	0	0	0	4	0	3	5	3	3	1	5	3	1	0			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:153741192C>A	ENST00000434658.2	-	2	551	c.82G>T	c.(82-84)Ggt>Tgt	p.G28C	FAM3A_ENST00000359889.5_Missense_Mutation_p.G28C|FAM3A_ENST00000393572.1_Intron|FAM3A_ENST00000447601.2_Missense_Mutation_p.G28C|FAM3A_ENST00000369643.1_Missense_Mutation_p.G28C|FAM3A_ENST00000492763.1_5'UTR|FAM3A_ENST00000369641.3_Missense_Mutation_p.G28C	NM_001171134.1	NP_001164605.1	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	28						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGGCCCACCCAGGAGGATG	0.612													22	88					6.32553e-13	8.89467e-13	1	0	A	153741192	C	A	153741192	3	1	27	1	0	0	0	0	1	0	0	0	5603	623	22	4	642	4	FAM3A	23	153741192	Missense_Mutation	SNP	C	TCGA-BA-A6DA-01A-31D-A31L-08	146263	153741192	1529368	766	5834											
G6PD	2539	broad.mit.edu	37	chrX	153762678	153762678	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctctgcaggtccctcccGaagggcttctccacgatgat	7	9	11	14	2	2	1	0	1	2	0	5	4	4	1	3	2	2	3	3	2	1	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:153762678G>A	ENST00000393562.2	-	6	992	c.609C>T	c.(607-609)ttC>ttT	p.F203F	G6PD_ENST00000393564.2_Silent_p.F173F|G6PD_ENST00000369620.2_Silent_p.F173F	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	173					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCCCTCCCGAAGGGCTTCT	0.617													14	67					0	0	0	0	A	153762678	G	A	153762678	2	1	27	1	0	0	0	0	0	0	0	1	6194	1049	37	1		1	G6PD	23	153762678	Silent	SNP	G	TCGA-BA-A6DA-01A-31D-A31L-08	21486	153762678	1507882	767	5835											
SPRY3	10251	broad.mit.edu	37	chrX	155004339	155004339	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaggcacaccaacactgTgtgcagaaagatctcttctg	13	8	9	11	0	2	3	0	0	2	3	3	3	2	3	1	1	2	2	1	1	3	1			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:155004339T>A	ENST00000302805.2	+	2	1237	c.806T>A	c.(805-807)gTg>gAg	p.V269E		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	269	Cys-rich.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACCAACACTGTGTGCAGAAAG	0.562													44	147					0	0	0	0	A	155004339	T	A	155004339	3	1	27	1	0	0	0	0	1	0	0	0	15197	1696	59	5	808	5	SPRY3	23	155004339	Missense_Mutation	SNP	T	TCGA-BA-A6DA-01A-31D-A31L-08	1241661	155004339	266221	768	5836											
PADI1	29943	broad.mit.edu	37	chr1	17548859	17548859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttcatggtctacaaccGcacacgtgtgaaagagccca	11	8	10	12	2	3	2	1	1	2	1	3	2	3	2	2	2	3	1	2	2	3	2			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:17548859G>A	ENST00000375471.4	+	2	259	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	56					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GTCTACAACCGCACACGTGTG	0.557													6	153					0	0	0	0	A	17548859	G	A	17548859	3	1	28	1	0	0	0	0	1	0	0	0	11448	1087	38	1	173	1	PADI1	1	17548859	Missense_Mutation	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08		17548859	231701762	1	5837											
ZMPSTE24	10269	broad.mit.edu	37	chr1	40758218	40758218	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagacttatattctgctttAatcaaacttaacaaagataa	19	13	3	6	0	2	2	1	0	1	2	2	2	2	2	0	0	3	1	0	0	8	7			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:40758218A>G	ENST00000372759.3	+	10	1470	c.1305A>G	c.(1303-1305)ttA>ttG	p.L435L		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	435						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ATTCTGCTTTAATCAAACTTA	0.393													16	121					0	0	0	0	G	40758218	A	G	40758218	2	3	28	1	0	0	0	0	0	0	0	1	17793	359	13	5		5	ZMPSTE24	1	40758218	Silent	SNP	A	TCGA-BA-A6DB-01A-11D-A30E-08	23209359	40758218	208492403	2	5838											
ANGPTL3	27329	broad.mit.edu	37	chr1	63069735	63069735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagactggaaagacaacaaaCattatattgaatattctttt	18	13	5	5	0	1	3	0	1	1	2	1	4	1	4	0	1	2	0	0	1	8	7			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:63069735C>T	ENST00000371129.3	+	6	1107	c.1027C>T	c.(1027-1029)Cat>Tat	p.H343Y	DOCK7_ENST00000251157.5_Intron|ANGPTL3_ENST00000493994.1_3'UTR|DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000404627.2_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	343	Fibrinogen C-terminal.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						AGACAACAAACATTATATTGA	0.368													10	239					0	0	0	0	T	63069735	C	T	63069735	3	4	28	1	0	0	0	0	1	0	0	0	615	478	17	4	1049	4	ANGPTL3	1	63069735	Missense_Mutation	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08	22311517	63069735	186180886	3	5839											
ETV3L	440695	broad.mit.edu	37	chr1	157068581	157068581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggggggatggcggcgcccGcacttcccacaaaggatagt	8	6	16	11	3	0	0	0	0	0	0	1	2	1	2	2	6	0	1	2	6	2	2			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:157068581G>A	ENST00000454449.2	-	3	687	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	135						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGCGGCGCCCGCACTTCCCAC	0.577													4	143					0	0	0	0	A	157068581	G	A	157068581	3	1	28	1	0	0	0	0	1	0	0	0	5318	1086	38	1	694	1	ETV3L	1	157068581	Missense_Mutation	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08	93998846	157068581	92182040	4	5840											
SLAMF6	114836	broad.mit.edu	37	chr1	160466091	160466091	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgatgaagttgaccttctCtcctgcaggaaactccaggg	10	10	11	10	0	1	3	0	3	1	0	4	4	3	4	3	2	2	2	3	2	2	2			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:160466091C>G	ENST00000368059.3	-	2	211	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Missense_Mutation_p.E48Q	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	48						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TTGACCTTCTCTCCTGCAGGA	0.453													13	261					0	0	0	0	G	160466091	C	G	160466091	3	3	28	1	0	0	0	0	1	0	0	0	14456	922	32	2	884	2	SLAMF6	1	160466091	Missense_Mutation	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08	3397510	160466091	88784530	5	5841											
PPFIA4	8497	broad.mit.edu	37	chr1	203029424	203029424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccatcatgtccgctctgtCggacacagagatccagcggg	8	8	12	13	3	2	1	1	0	1	1	5	3	4	2	3	2	2	1	3	2	0	0			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:203029424C>T	ENST00000367240.2	+	21	3127	c.2600C>T	c.(2599-2601)tCg>tTg	p.S867L	PPFIA4_ENST00000447715.2_Missense_Mutation_p.S866L|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S595L|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S382L|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S382L|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S382L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	382					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TCCGCTCTGTCGGACACAGAG	0.632													4	105					0	0	0	0	T	203029424	C	T	203029424	3	4	28	1	0	0	0	0	1	0	0	0	12383	893	31	1	1179	1	PPFIA4	1	203029424	Missense_Mutation	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08	42563333	203029424	46221197	6	5842											
ZNF496	84838	broad.mit.edu	37	chr1	247464555	247464555	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcatccaggctgttctCtagagatcgcgggttgccgc	5	13	11	12	3	3	1	1	0	2	1	6	2	4	1	2	2	1	3	2	2	1	5			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:247464555C>A	ENST00000294753.4	-	9	1494	c.1030G>T	c.(1030-1032)Gag>Tag	p.E344*	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Nonsense_Mutation_p.E380*	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	344					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E344Q(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			AGGCTGTTCTCTAGAGATCGC	0.612													6	130					8.12818e-05	8.12818e-05	1	0	A	247464555	C	A	247464555	4	1	28	1	0	0	0	0	0	1	0	0	18040	922	32	2	737	2	ZNF496	1	247464555	Nonsense_Mutation	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08	44435131	247464555	1786066	7	5843											
TTN	7273	broad.mit.edu	37	chr2	179399635	179399635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaagcacttgtgttaatgcGctcaaatatgtcaagtcctg	13	12	8	8	1	2	0	2	0	0	0	3	0	3	0	1	0	2	3	1	0	6	3			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr2:179399635G>A	ENST00000589042.1	-	358	101931	c.101707C>T	c.(101707-101709)Cgc>Tgc	p.R33903C	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24963C|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24838C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31335C|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25030C|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32262C|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591867.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32262							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)			GTGTTAATGCGCTCAAATATG	0.343													4	72					0	0	0	0	A	179399635	G	A	179399635	3	1	28	1	0	0	0	0	1	0	0	0	16831	1087	38	1	6292	1	TTN	2	179399635	Missense_Mutation	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08		179399635	63799738	8	5844											
PLCL1	5334	broad.mit.edu	37	chr2	198949735	198949735	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatcactgctccttgccGcagcagaaggtaatggctca	11	8	11	11	1	2	1	2	0	0	1	3	2	3	2	2	3	3	5	2	3	3	2			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr2:198949735G>A	ENST00000428675.1	+	2	1892	c.1494G>A	c.(1492-1494)ccG>ccA	p.P498P	PLCL1_ENST00000437704.2_Silent_p.P400P	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	498	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCTCCTTGCCGCAGCAGAAGG	0.418													4	52					0	0	0	0	A	198949735	G	A	198949735	2	1	28	1	0	0	0	0	0	0	0	1	12111	1074	38	1		1	PLCL1	2	198949735	Silent	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08	19550100	198949735	44249638	9	5845											
ARMC9	80210	broad.mit.edu	37	chr2	232127058	232127058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagagcagagggagaccGttctgcaagcctacatcagc	11	6	13	11	1	2	3	1	0	1	3	2	5	2	3	2	2	5	3	2	2	2	2			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr2:232127058G>A	ENST00000349938.4	+	12	1260	c.1066G>A	c.(1066-1068)Gtt>Att	p.V356I	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	356							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GAGGGAGACCGTTCTGCAAGC	0.493													4	120					0	0	0	0	A	232127058	G	A	232127058	3	1	28	1	0	0	0	0	1	0	0	0	962	1145	40	1	1108	1	ARMC9	2	232127058	Missense_Mutation	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08	33177323	232127058	11072315	10	5846											
RNF123	63891	broad.mit.edu	37	chr3	49738118	49738118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgaggcatgagaagtcccGcaagtttctgcttagcaatg	10	10	11	10	1	1	2	0	2	1	1	2	3	2	2	2	1	2	5	2	1	4	2			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr3:49738118G>A	ENST00000327697.6	+	15	1397	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	RNF123_ENST00000432042.1_Missense_Mutation_p.R272H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	418						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GAGAAGTCCCGCAAGTTTCTG	0.597													4	132					0	0	0	0	A	49738118	G	A	49738118	3	1	28	1	0	0	0	0	1	0	0	0	13518	1087	38	1	1307	1	RNF123	3	49738118	Missense_Mutation	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08		49738118	148284312	11	5847											
TLR9	54106	broad.mit.edu	37	chr3	52257252	52257252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagggcgaccaggctcccGaaggaaggggccagagacag	11	3	16	11	2	1	1	1	0	0	1	2	5	2	2	3	5	0	1	3	5	2	1			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr3:52257252G>A	ENST00000494383.1	-	5	1539	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	TLR9_ENST00000597542.1_Silent_p.F384F|TLR9_ENST00000360658.2_Silent_p.F360F			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCAGGCTCCCGAAGGAAGGGG	0.612													4	113					0	0	0	0	A	52257252	G	A	52257252	3	1	28	1	0	0	0	0	1	0	0	0	16052	1049	37	1	2022	1	TLR9	3	52257252	Missense_Mutation	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08	2519134	52257252	145765178	12	5848											
KLHL6	89857	broad.mit.edu	37	chr3	183210454	183210454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagcttcttcttatggctGgtggctgcaaaggaactgac	9	12	11	9	0	2	1	0	1	2	0	2	2	2	2	0	4	4	4	0	4	4	4			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr3:183210454G>A	ENST00000341319.3	-	6	1427	c.1392C>T	c.(1390-1392)acC>acT	p.T464T		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	464										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCTTATGGCTGGTGGCTGCAA	0.542													9	81					0	0	0	0	A	183210454	G	A	183210454	2	1	28	1	0	0	0	0	0	0	0	1	8445	1335	47	4		4	KLHL6	3	183210454	Silent	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08	130953202	183210454	14811976	13	5849											
TNFAIP8	25816	broad.mit.edu	37	chr5	118728831	118728831	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaccgtggtcagtttccatCaggtggattatacctttgac	8	14	10	9	1	2	2	2	2	0	0	3	3	3	3	3	3	1	1	3	3	2	4			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr5:118728831C>T	ENST00000504771.2	+	2	2129	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	TNFAIP8_ENST00000503646.1_Nonsense_Mutation_p.Q118*|TNFAIP8_ENST00000513374.1_Nonsense_Mutation_p.Q130*|TNFAIP8_ENST00000274456.6_Nonsense_Mutation_p.Q108*|TNFAIP8_ENST00000504642.1_Nonsense_Mutation_p.Q120*|TNFAIP8_ENST00000415806.2_3'UTR	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	118					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		CAGTTTCCATCAGGTGGATTA	0.413													16	57					0	0	0	0	T	118728831	C	T	118728831	4	4	28	1	0	0	0	0	0	1	0	0	16370	827	29	2	363	2	TNFAIP8	5	118728831	Nonsense_Mutation	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08		118728831	62186429	14	5850											
RFPL4B	442247	broad.mit.edu	37	chr6	112671339	112671339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtactccctgcttctcctcCggccaacattactgggaggt	6	11	10	14	1	1	0	0	0	1	0	4	1	3	1	4	4	4	2	4	4	3	3			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr6:112671339C>T	ENST00000441065.2	+	3	741	c.429C>T	c.(427-429)tcC>tcT	p.S143S		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	143	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GCTTCTCCTCCGGCCAACATT	0.532													7	76					0	0	0	0	T	112671339	C	T	112671339	2	4	28	1	0	0	0	0	0	0	0	1	13338	639	23	1		1	RFPL4B	6	112671339	Silent	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08		112671339	58443728	15	5851											
PCLO	27445	broad.mit.edu	37	chr7	82784965	82784965	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccctgagggctgagctgggGgctttgcaggcccaggctgt	4	8	18	11	0	0	2	0	2	0	0	0	2	0	2	2	5	2	5	2	5	0	1			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr7:82784965G>C	ENST00000423517.2	-	2	1329	c.992C>G	c.(991-993)cCc>cGc	p.P331R	PCLO_ENST00000333891.8_Missense_Mutation_p.P331R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	314	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGAGCTGGGGGCTTTGCAGG	0.567													4	41					0	0	0	0	C	82784965	G	C	82784965	3	2	28	1	0	0	0	0	1	0	0	0	11654	1232	43	4	14549	4	PCLO	7	82784965	Missense_Mutation	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08		82784965	76353698	16	5852											
INTS9	55756	broad.mit.edu	37	chr8	28625720	28625720	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgcactctgagcatctcGtcattgtcgcagatgatatg	9	12	10	10	3	3	3	1	2	2	1	6	3	3	3	0	0	1	3	0	0	1	2	rs149143087		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr8:28625720G>A	ENST00000416984.2	-	16	2216	c.1857C>T	c.(1855-1857)gaC>gaT	p.D619D	INTS9_ENST00000521777.1_Silent_p.D616D|INTS9_ENST00000521022.1_Silent_p.D640D|INTS9_ENST00000397363.4_Silent_p.D534D	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	640					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TGAGCATCTCGTCATTGTCGC	0.532													5	344					0	0	0	0	A	28625720	G	A	28625720	2	1	28	1	0	0	0	0	0	0	0	1	7838	1136	40	1		1	INTS9	8	28625720	Silent	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08		28625720	117738302	17	5853											
KCNB2	9312	broad.mit.edu	37	chr8	73480479	73480479	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagagtttgataatacCtgctgccctgataaaaggaa	15	9	11	6	0	0	4	0	2	0	2	0	6	0	5	2	2	3	2	2	2	6	4			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr8:73480479C>A	ENST00000523207.1	+	2	1098	c.510C>A	c.(508-510)acC>acA	p.T170T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	170					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTGATAATACCTGCTGCCCTG	0.453													20	207					1.15919e-05	1.17917e-05	1	0	A	73480479	C	A	73480479	2	1	28	1	0	0	0	0	0	0	0	1	8066	668	24	4		4	KCNB2	8	73480479	Silent	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08	44854759	73480479	72883543	18	5854											
NUDT2	318	broad.mit.edu	37	chr9	34343282	34343282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtcatttactggctggcGgaggtgaaggactatgacgt	10	10	14	7	2	1	2	1	2	0	0	1	4	1	4	0	5	1	1	0	5	3	3			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr9:34343282G>A	ENST00000379158.2	+	5	646	c.288G>A	c.(286-288)gcG>gcA	p.A96A	NUDT2_ENST00000346365.4_Silent_p.A96A|NUDT2_ENST00000379155.5_Silent_p.A96A	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	96	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ACTGGCTGGCGGAGGTGAAGG	0.552													5	154					0	0	0	0	A	34343282	G	A	34343282	2	1	28	1	0	0	0	0	0	0	0	1	10808	1103	39	1		1	NUDT2	9	34343282	Silent	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08		34343282	106870149	19	5855											
EGFL7	51162	broad.mit.edu	37	chr9	139563123	139563123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccgggcctgcagcacctaCcggtgagtgccccaccacac	8	4	10	19	2	0	1	0	1	0	0	0	1	0	1	7	2	4	2	7	2	1	1			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr9:139563123C>T	ENST00000371699.1	+	4	1106	c.195C>T	c.(193-195)taC>taT	p.Y65Y	EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000308874.7_Silent_p.Y65Y|EGFL7_ENST00000371698.3_Silent_p.Y65Y|EGFL7_ENST00000406555.3_Silent_p.Y65Y			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	65	EMI.				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GCAGCACCTACCGGTGAGTGC	0.687													4	147					0	0	0	0	T	139563123	C	T	139563123	2	4	28	1	0	0	0	0	0	0	0	1	5000	518	18	4		4	EGFL7	9	139563123	Silent	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08	105219841	139563123	1650308	20	5856											
PRCP	5547	broad.mit.edu	37	chr11	82536060	82536060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatccaaggcattcttggtgCggagatctaagtggtgggcc	8	10	15	8	1	2	1	0	0	2	1	3	3	3	1	2	5	1	1	2	5	2	3			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr11:82536060C>T	ENST00000313010.3	-	9	1573	c.1379G>A	c.(1378-1380)cGc>cAc	p.R460H	PRCP_ENST00000535099.1_Missense_Mutation_p.R355H|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.R481H	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	460					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ATTCTTGGTGCGGAGATCTAA	0.502													6	51					0	0	0	0	T	82536060	C	T	82536060	3	4	28	1	0	0	0	0	1	0	0	0	12529	768	27	1	115	1	PRCP	11	82536060	Missense_Mutation	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08		82536060	52470456	21	5857											
TYR	7299	broad.mit.edu	37	chr11	88911771	88911771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatagactcttcttgttgcGgtgggaacaagaaatccaga	12	10	11	8	1	2	3	0	0	2	3	3	4	3	4	1	2	2	2	1	2	4	4	rs61754365		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr11:88911771G>A	ENST00000263321.5	+	1	1152	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	217			Missing (in OCA1A).|R -> G (in OCA1A).|R -> Q (in OCA1A).|R -> S (in OCA1A).|R -> W (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTCTTGTTGCGGTGGGAACAA	0.463													4	172					0	0	0	0	A	88911771	G	A	88911771	3	1	28	1	0	0	0	0	1	0	0	0	16909	1116	39	1	652	1	TYR	11	88911771	Missense_Mutation	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08	6375711	88911771	46094745	22	5858											
SSH1	54434	broad.mit.edu	37	chr12	109201543	109201543	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatgagagctacacccccGgggaagtagttgtgcctccg	9	7	13	12	2	0	2	0	1	0	2	1	4	1	3	4	2	3	3	4	2	3	3			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr12:109201543G>A	ENST00000326495.5	-	8	690	c.597C>T	c.(595-597)ccC>ccT	p.P199P	SSH1_ENST00000551165.1_Silent_p.P199P|SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Silent_p.P210P	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	199					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTACACCCCCGGGGAAGTAGT	0.612													4	83					0	0	0	0	A	109201543	G	A	109201543	2	1	28	1	0	0	0	0	0	0	0	1	15274	1103	39	1		1	SSH1	12	109201543	Silent	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08		109201543	24650352	23	5859											
SACS	26278	broad.mit.edu	37	chr13	23939316	23939316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcttaccctgatatggcGccatatcttttgaccaaaga	11	13	7	10	1	2	3	0	2	2	1	2	4	2	3	3	1	1	0	3	1	4	6			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr13:23939316G>A	ENST00000382298.3	-	6	1034	c.446C>T	c.(445-447)gCg>gTg	p.A149V	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Missense_Mutation_p.A149V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	149					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGATATGGCGCCATATCTTT	0.328													4	49					0	0	0	0	A	23939316	G	A	23939316	3	1	28	1	0	0	0	0	1	0	0	0	13889	1087	38	1	13313	1	SACS	13	23939316	Missense_Mutation	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08		23939316	91230562	24	5860											
MTUS2	23281	broad.mit.edu	37	chr13	29608227	29608227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacccaccaggacccataaCaacagccaccagtctctaca	14	4	4	19	0	1	0	0	0	1	0	2	1	1	1	6	1	4	0	6	1	3	2			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr13:29608227C>A	ENST00000431530.3	+	2	2499	c.2441C>A	c.(2440-2442)aCa>aAa	p.T814K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	804	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGACCCATAACAACAGCCACC	0.493													7	68					5.18039e-06	5.36216e-06	1	0	A	29608227	C	A	29608227	3	1	28	1	0	0	0	0	1	0	0	0	10036	478	17	4	2447	4	MTUS2	13	29608227	Missense_Mutation	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08	5668911	29608227	85561651	25	5861											
YLPM1	56252	broad.mit.edu	37	chr14	75248427	75248427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtgccaccacctggcatgCccccacctgttatgccacct	7	8	7	19	0	0	0	0	0	0	0	0	0	0	0	8	1	3	2	8	1	1	1			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr14:75248427C>T	ENST00000325680.7	+	4	1805	c.1681C>T	c.(1681-1683)Ccc>Tcc	p.P561S	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Missense_Mutation_p.P561S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCTGGCATGCCCCCACCTGT	0.612													5	275					0	0	0	0	T	75248427	C	T	75248427	3	4	28	1	0	0	0	0	1	0	0	0	17582	739	26	4	1695	4	YLPM1	14	75248427	Missense_Mutation	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08		75248427	32101113	26	5862											
TRPM7	54822	broad.mit.edu	37	chr15	50875314	50875314	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgctttggaatctactTcatgagtgtcttcggtagat	9	15	10	7	1	3	2	1	1	2	1	4	3	3	3	0	2	3	3	0	2	4	5			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr15:50875314T>C	ENST00000313478.7	-	29	4810	c.4529A>G	c.(4528-4530)gAa>gGa	p.E1510G	TRPM7_ENST00000560955.1_Missense_Mutation_p.E1509G	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1510					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GGAATCTACTTCATGAGTGTC	0.274													4	59					0	0	0	0	C	50875314	T	C	50875314	3	2	28	1	0	0	0	0	1	0	0	0	16686	1783	62	5	1112	5	TRPM7	15	50875314	Missense_Mutation	SNP	T	TCGA-BA-A6DB-01A-11D-A30E-08		50875314	51656078	27	5863											
KIAA1024	23251	broad.mit.edu	37	chr15	79755514	79755514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccctaccctgcctccCtcaaggcccacatgaagagc	9	6	6	20	0	2	2	2	1	0	1	3	2	3	2	6	1	3	0	6	1	3	1			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr15:79755514C>T	ENST00000305428.3	+	3	2479	c.2404C>T	c.(2404-2406)Ctc>Ttc	p.L802F		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	802						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCCTGCCTCCCTCAAGGCCCA	0.607													5	102					0	0	0	0	T	79755514	C	T	79755514	3	4	28	1	0	0	0	0	1	0	0	0	8256	681	24	4	2410	4	KIAA1024	15	79755514	Missense_Mutation	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08	28880200	79755514	22775878	28	5864											
ALPK3	57538	broad.mit.edu	37	chr15	85400343	85400343	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accatgagcaaactgtgctgGgtcccctgtcagggaacctc	9	8	11	13	0	1	1	1	1	0	0	3	2	2	2	4	2	4	2	4	2	2	0			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr15:85400343G>C	ENST00000258888.5	+	6	3147	c.2980G>C	c.(2980-2982)Ggt>Cgt	p.G994R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	994					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AACTGTGCTGGGTCCCCTGTC	0.592													11	103					0	0	0	0	C	85400343	G	C	85400343	3	2	28	1	0	0	0	0	1	0	0	0	546	1232	43	4	3002	4	ALPK3	15	85400343	Missense_Mutation	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08	5644829	85400343	17131049	29	5865											
DNAH3	55567	broad.mit.edu	37	chr16	21145740	21145740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgctctcaataaagagccGttttctctccattgggtcca	9	13	8	11	1	2	1	1	0	2	1	6	2	4	1	3	1	2	2	3	1	3	4			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr16:21145740G>A	ENST00000261383.3	-	7	921	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	DNAH3_ENST00000415178.1_Missense_Mutation_p.R308W	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	308	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R308W(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATAAAGAGCCGTTTTCTCTCC	0.507													4	120					0	0	0	0	A	21145740	G	A	21145740	3	1	28	1	0	0	0	0	1	0	0	0	4640	1144	40	1	11651	1	DNAH3	16	21145740	Missense_Mutation	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08		21145740	69209013	30	5866											
GTF3C1	2975	broad.mit.edu	37	chr16	27518206	27518206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggctgggtcttgggcCggaggtttgcagaggctctt	5	11	18	7	1	2	2	0	1	2	1	2	4	2	3	1	6	1	4	1	6	0	3			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr16:27518206C>T	ENST00000356183.4	-	9	1529	c.1514G>A	c.(1513-1515)cGg>cAg	p.R505Q	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R505Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	505						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGTCTTGGGCCGGAGGTTTGC	0.622													3	28					0	0	0	0	T	27518206	C	T	27518206	3	4	28	1	0	0	0	0	1	0	0	0	6922	652	23	1	4931	1	GTF3C1	16	27518206	Missense_Mutation	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08	6372466	27518206	62836547	31	5867											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	31					0	0	0	0	A	7577121	G	A	7577121	3	1	28	1	0	0	0	0	1	0	0	0	16476	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08		7577121	73618089	32	5868											
MGAT5B	146664	broad.mit.edu	37	chr17	74928764	74928764	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcatgggcttcgtgtcCgaggagctcaacgagacgga	8	9	13	11	4	2	1	2	0	0	1	5	5	4	3	2	3	2	2	2	3	1	2	rs141461687	byFrequency	TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr17:74928764C>T	ENST00000569840.2	+	11	1903	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	MGAT5B_ENST00000301618.4_Silent_p.S443S|MGAT5B_ENST00000428789.2_Silent_p.S454S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	443						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTTCGTGTCCGAGGAGCTCA	0.622													19	121					0	0	0	0	T	74928764	C	T	74928764	2	4	28	1	0	0	0	0	0	0	0	1	9618	639	23	1		1	MGAT5B	17	74928764	Silent	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08	67351643	74928764	6266446	33	5869											
LPIN2	9663	broad.mit.edu	37	chr18	2921574	2921574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catagaagggctgcttagacGgggcaaacagattcttgata	13	9	12	7	1	1	4	0	1	1	3	1	4	1	4	0	3	2	3	0	3	5	5			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr18:2921574G>A	ENST00000261596.4	-	18	2637	c.2399C>T	c.(2398-2400)cCg>cTg	p.P800L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	800	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTGCTTAGACGGGGCAAACAG	0.403													9	94					0	0	0	0	A	2921574	G	A	2921574	3	1	28	1	0	0	0	0	1	0	0	0	8983	1116	39	1	303	1	LPIN2	18	2921574	Missense_Mutation	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08		2921574	75155674	34	5870											
APCDD1	147495	broad.mit.edu	37	chr18	10471888	10471888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgagtgcaccaaggccGtgaactttgccatgcatgaa	10	9	12	10	1	0	3	0	3	0	0	0	3	0	3	3	1	4	3	3	1	3	1			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr18:10471888G>A	ENST00000355285.4	+	3	958	c.604G>A	c.(604-606)Gtg>Atg	p.V202M	APCDD1_ENST00000584596.1_3'UTR|APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	202					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CACCAAGGCCGTGAACTTTGC	0.607													5	276					0	0	0	0	A	10471888	G	A	10471888	3	1	28	1	0	0	0	0	1	0	0	0	766	1145	40	1	614	1	APCDD1	18	10471888	Missense_Mutation	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08	7550314	10471888	67605360	35	5871											
HKR1	284459	broad.mit.edu	37	chr19	37854409	37854409	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctaacctgtttaggcAcaagagggcacactcaggtg	12	7	12	10	0	1	1	1	0	0	1	1	2	1	1	2	3	2	3	2	3	4	3			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr19:37854409A>T	ENST00000591471.1	+	9	2534	c.893A>T	c.(892-894)cAc>cTc	p.H298L	HKR1_ENST00000544914.1_Missense_Mutation_p.H298L|HKR1_ENST00000589392.1_Missense_Mutation_p.H553L|HKR1_ENST00000392153.3_Missense_Mutation_p.H552L|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Missense_Mutation_p.H510L|HKR1_ENST00000324411.4_Missense_Mutation_p.H571L			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	571					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGTTTAGGCACAAGAGGGCA	0.522													12	53					0	0	0	0	T	37854409	A	T	37854409	3	4	28	1	0	0	0	0	1	0	0	0	7244	159	6	5	1726	5	HKR1	19	37854409	Missense_Mutation	SNP	A	TCGA-BA-A6DB-01A-11D-A30E-08		37854409	21274574	36	5872											
ZNF227	7770	broad.mit.edu	37	chr19	44739946	44739946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcaccattaatatgccatCggagagtccacacaggagag	14	8	9	10	1	1	2	1	0	0	2	3	4	2	2	3	2	1	0	3	2	2	3			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr19:44739946C>T	ENST00000313040.7	+	6	1568	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W	ZNF227_ENST00000589005.1_Missense_Mutation_p.R404W|ZNF227_ENST00000391961.2_Missense_Mutation_p.R404W	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AATATGCCATCGGAGAGTCCA	0.468													4	154					0	0	0	0	T	44739946	C	T	44739946	3	4	28	1	0	0	0	0	1	0	0	0	17876	875	31	1	1377	1	ZNF227	19	44739946	Missense_Mutation	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08	6885537	44739946	14389037	37	5873											
NLRP12	91662	broad.mit.edu	37	chr19	54313442	54313442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgttgaggaaggcagagaCgtcttccccgtctaggccgt	8	9	13	11	3	2	2	0	1	2	1	3	4	3	3	3	3	0	2	3	3	2	3			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr19:54313442C>T	ENST00000324134.6	-	3	1639	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	NLRP12_ENST00000391775.3_Missense_Mutation_p.V491I|NLRP12_ENST00000354278.3_Missense_Mutation_p.V491I|NLRP12_ENST00000351894.4_Missense_Mutation_p.V491I|NLRP12_ENST00000345770.5_Missense_Mutation_p.V491I|NLRP12_ENST00000391772.1_Missense_Mutation_p.V491I|NLRP12_ENST00000535162.1_Missense_Mutation_p.V491I|NLRP12_ENST00000391773.1_Missense_Mutation_p.V491I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	491	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.V491I(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAGGCAGAGACGTCTTCCCCG	0.512													4	161					0	0	0	0	T	54313442	C	T	54313442	3	4	28	1	0	0	0	0	1	0	0	0	10544	536	19	1	1842	1	NLRP12	19	54313442	Missense_Mutation	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08	9573496	54313442	4815541	38	5874											
PAK7	57144	broad.mit.edu	37	chr20	9561503	9561503	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagttggagcgagtcacCgagatgttgtcaaaatcctc	11	9	13	8	2	2	1	2	0	0	1	4	5	3	3	2	2	1	2	2	2	2	2			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr20:9561503C>T	ENST00000378429.3	-	5	825	c.279G>A	c.(277-279)tcG>tcA	p.S93S	PAK7_ENST00000353224.5_Silent_p.S93S|PAK7_ENST00000378423.1_Silent_p.S93S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	93	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGCGAGTCACCGAGATGTTGT	0.512													5	271					0	0	0	0	T	9561503	C	T	9561503	2	4	28	1	0	0	0	0	0	0	0	1	11476	639	23	1		1	PAK7	20	9561503	Silent	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08		9561503	53464017	39	5875											
NCOA3	8202	broad.mit.edu	37	chr20	46267869	46267869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaaaatatcagtgctttccCcatgttaccaaagcaaccca	16	9	4	12	0	1	0	1	0	0	0	2	0	2	0	4	0	4	3	4	0	7	3			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr20:46267869C>T	ENST00000372004.3	+	14	2846	c.2630C>T	c.(2629-2631)cCc>cTc	p.P877L	NCOA3_ENST00000341724.6_Intron|NCOA3_ENST00000371997.3_Missense_Mutation_p.P887L|NCOA3_ENST00000371998.3_Missense_Mutation_p.P877L	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	877					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGTGCTTTCCCCATGTTACCA	0.428													12	112					0	0	0	0	T	46267869	C	T	46267869	3	4	28	1	0	0	0	0	1	0	0	0	10300	623	22	4	2706	4	NCOA3	20	46267869	Missense_Mutation	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08	36706366	46267869	16757651	40	5876											
PRR5	55615	broad.mit.edu	37	chr22	45133065	45133065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattttcattgactttggcCggggccggggctctggcatg	4	12	16	9	2	2	1	1	1	1	0	2	2	2	2	2	7	0	2	2	7	0	4			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr22:45133065C>T	ENST00000403581.1	+	10	1783	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	PRR5_ENST00000336985.6_Missense_Mutation_p.R369W|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000477331.1_3'UTR	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		TGACTTTGGCCGGGGCCGGGG	0.632													10	122					0	0	0	0	T	45133065	C	T	45133065	3	4	28	1	0	0	0	0	1	0	0	0	12679	643	23	1	1135	1	PRR5	22	45133065	Missense_Mutation	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08		45133065	6171501	41	5877											
PAGE1	8712	broad.mit.edu	37	chrX	49454129	49454129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgaacctgttcctggctatCcgcttcaggctctggccctt	4	13	10	14	1	2	1	1	1	1	0	4	1	4	1	4	3	1	4	4	3	2	4			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chrX:49454129C>T	ENST00000376150.3	-	5	442	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	104					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					TCCTGGCTATCCGCTTCAGGC	0.363													11	125					0	0	0	0	T	49454129	C	T	49454129	3	4	28	1	0	0	0	0	1	0	0	0	11460	855	30	2	138	2	PAGE1	23	49454129	Missense_Mutation	SNP	C	TCGA-BA-A6DB-01A-11D-A30E-08		49454129	105816431	42	5878											
TRO	7216	broad.mit.edu	37	chrX	54957319	54957319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcaccagtggcttcagcGgtggaccgagcacaggagct	10	5	14	12	2	1	0	1	0	0	0	1	3	1	2	2	4	4	4	2	4	1	1			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chrX:54957319G>A	ENST00000173898.7	+	12	4274	c.4162G>A	c.(4162-4164)Ggt>Agt	p.G1388S	TRO_ENST00000375041.2_Missense_Mutation_p.G991S|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.G919S|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1388	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGGCTTCAGCGGTGGACCGAG	0.612													4	194					0	0	0	0	A	54957319	G	A	54957319	3	1	28	1	0	0	0	0	1	0	0	0	16669	1116	39	1	4204	1	TRO	23	54957319	Missense_Mutation	SNP	G	TCGA-BA-A6DB-01A-11D-A30E-08	5503190	54957319	100313241	43	5879											
KIF1B	23095	broad.mit.edu	37	chr1	10435384	10435384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcaatgacaaagacatGaacgactggttgtatgcctt	12	10	9	10	1	1	3	1	2	0	1	1	4	1	3	2	1	2	2	2	1	4	3			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr1:10435384G>T	ENST00000377086.1	+	48	5563	c.5361G>T	c.(5359-5361)atG>atT	p.M1787I	KIF1B_ENST00000263934.6_Missense_Mutation_p.M1741I|KIF1B_ENST00000377081.1_Missense_Mutation_p.M1787I			O60333	KIF1B_HUMAN	kinesin family member 1B	1787	PH.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACAAAGACATGAACGACTGGT	0.438													8	99					2.17888e-05	2.34028e-05	1	0	T	10435384	G	T	10435384	3	4	29	1	0	0	0	0	1	0	0	0	8335	1290	45	2	6890	2	KIF1B	1	10435384	Missense_Mutation	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08		10435384	238815237	1	5880											
RPS6KA1	6195	broad.mit.edu	37	chr1	26887589	26887589	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagattgagattcttctgcgGtatggccagcaccccaacat	10	10	10	11	1	2	2	0	1	2	2	2	4	2	2	3	2	3	2	3	2	2	4			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr1:26887589G>T	ENST00000374168.2	+	16	1549	c.1395G>T	c.(1393-1395)cgG>cgT	p.R465R	RPS6KA1_ENST00000374166.4_Silent_p.R454R|RPS6KA1_ENST00000531382.1_Silent_p.R474R|RPS6KA1_ENST00000530003.1_Silent_p.R449R|RPS6KA1_ENST00000526792.1_Silent_p.R373R|RPS6KA1_ENST00000374162.2_Silent_p.R373R	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	465	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TTCTTCTGCGGTATGGCCAGC	0.527													4	48					0.00909568	0.00942053	1	0	T	26887589	G	T	26887589	2	4	29	1	0	0	0	0	0	0	0	1	13735	1248	44	4		4	RPS6KA1	1	26887589	Silent	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08	16452205	26887589	222363032	2	5881											
MCOLN3	55283	broad.mit.edu	37	chr1	85506782	85506782	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggtccatatatccttttaGgaaaaggtgtttgaatgcta	11	15	9	6	1	0	1	0	1	0	0	3	2	2	2	2	3	1	2	2	3	7	6			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr1:85506782G>A	ENST00000370587.1	-	4	683	c.307C>T	c.(307-309)Cta>Tta	p.L103L	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370589.2_Silent_p.L103L|MCOLN3_ENST00000341115.4_Intron			Q8TDD5	MCLN3_HUMAN	mucolipin 3	103						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TATCCTTTTAGGAAAAGGTGT	0.368													4	72					0	0	0	0	A	85506782	G	A	85506782	2	1	29	1	0	0	0	0	0	0	0	1	9466	991	35	4		4	MCOLN3	1	85506782	Silent	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08	58619193	85506782	163743839	3	5882											
LCE1F	353137	broad.mit.edu	37	chr1	152748927	152748927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccaagtgccccacacCgaagtgccccccaaagtgtc	9	5	7	20	1	0	0	0	0	0	0	2	1	1	0	8	0	2	0	8	0	3	0			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr1:152748927C>A	ENST00000334371.2	+	1	80	c.80C>A	c.(79-81)cCg>cAg	p.P27Q		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgccccacaccgaagtgcccc	0.657													11	86					1.58986e-06	1.77331e-06	1	0	A	152748927	C	A	152748927	3	1	29	1	0	0	0	0	1	0	0	0	8717	652	23	3	82	3	LCE1F	1	152748927	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	67242145	152748927	96501694	4	5883											
OR10K2	391107	broad.mit.edu	37	chr1	158389942	158389942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgagatacacaggtagAaaaagctttgcacctaccca	15	7	10	9	0	0	2	0	1	0	2	0	4	0	2	2	2	4	3	2	2	5	4			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr1:158389942A>G	ENST00000314902.2	-	1	714	c.715T>C	c.(715-717)Tct>Cct	p.S239P		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ACACAGGTAGAAAAAGCTTTG	0.473													6	85					0	0	0	0	G	158389942	A	G	158389942	3	3	29	1	0	0	0	0	1	0	0	0	10985	246	9	5	225	5	OR10K2	1	158389942	Missense_Mutation	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08	5641015	158389942	90860679	5	5884											
CACNA1E	777	broad.mit.edu	37	chr1	181701953	181701953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtgacctttgaggacCgggccaggcacaggcagagc	8	6	16	11	1	0	3	0	2	0	1	0	4	0	4	3	5	1	2	3	5	0	1			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr1:181701953C>T	ENST00000526775.1	+	19	2839	c.2674C>T	c.(2674-2676)Cgg>Tgg	p.R892W	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R862W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R843W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R518W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R911W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R892W|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R911W	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	911					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTTGAGGACCGGGCCAGGCA	0.672													11	106					0	0	0	0	T	181701953	C	T	181701953	3	4	29	1	0	0	0	0	1	0	0	0	2567	643	23	1	2809	1	CACNA1E	1	181701953	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	23312011	181701953	67548668	6	5885											
CFH	3075	broad.mit.edu	37	chr1	196659265	196659265	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagtttgtacagggtaaatCtatagacgttgcctgccatc	12	12	9	8	1	1	1	0	0	1	1	2	1	1	1	2	1	3	4	2	1	6	6			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr1:196659265C>G	ENST00000367429.4	+	9	1472	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	CFH_ENST00000439155.2_Missense_Mutation_p.S411C|CFH_ENST00000359637.2_Missense_Mutation_p.S347C	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	411	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAGGGTAAATCTATAGACGTT	0.393													4	40					0	0	0	0	G	196659265	C	G	196659265	3	3	29	1	0	0	0	0	1	0	0	0	3312	913	32	2	1266	2	CFH	1	196659265	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	14957312	196659265	52591356	7	5886											
TGOLN2	10618	broad.mit.edu	37	chr2	85553654	85553654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgcttgttgtgatgagcgaTatagaggacagccacaagaa	13	8	12	8	2	0	4	0	2	0	2	0	6	0	5	2	1	2	2	2	1	4	4			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:85553654T>C	ENST00000377386.3	-	2	1663	c.1201A>G	c.(1201-1203)Atc>Gtc	p.I401V	TGOLN2_ENST00000444342.2_Missense_Mutation_p.I401V|TGOLN2_ENST00000409015.1_Missense_Mutation_p.I401V|TGOLN2_ENST00000398263.2_Missense_Mutation_p.I343V|TGOLN2_ENST00000282120.2_Missense_Mutation_p.I245V|TGOLN2_ENST00000409232.3_Missense_Mutation_p.I401V			O43493	TGON2_HUMAN	trans-golgi network protein 2	401						integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TGATGAGCGATATAGAGGACA	0.562													14	76					0	0	0	0	C	85553654	T	C	85553654	3	2	29	1	0	0	0	0	1	0	0	0	15930	1406	49	5	124	5	TGOLN2	2	85553654	Missense_Mutation	SNP	T	TCGA-BA-A6DD-01A-12D-A31L-08		85553654	157645719	8	5887											
SNRNP200	23020	broad.mit.edu	37	chr2	96953193	96953193	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaccaatctcattatgattCaggtcgtacagacgctcaaa	14	10	6	11	2	3	2	3	1	1	1	5	2	3	2	1	1	1	2	1	1	4	3			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:96953193C>T	ENST00000323853.5	-	26	3545	c.3468G>A	c.(3466-3468)ctG>ctA	p.L1156L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1156	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CATTATGATTCAGGTCGTACA	0.517													16	134					0	0	0	0	T	96953193	C	T	96953193	2	4	29	1	0	0	0	0	0	0	0	1	14940	813	29	2		2	SNRNP200	2	96953193	Silent	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	11399539	96953193	146246180	9	5888											
TXNDC9	10190	broad.mit.edu	37	chr2	99944026	99944026	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtctctgtagaaatggcAaaccacattttcactctcct	11	12	7	11	0	3	1	1	0	2	1	5	2	3	2	2	2	1	2	2	2	3	3			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:99944026A>T	ENST00000264255.3	-	3	535	c.280T>A	c.(280-282)Tgc>Agc	p.C94S	TXNDC9_ENST00000409434.1_Missense_Mutation_p.C94S	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	94	Thioredoxin.				cell redox homeostasis		protein binding			lung(1)	1						TAGAAATGGCAAACCACATTT	0.378													5	41					0	0	0	0	T	99944026	A	T	99944026	3	4	29	1	0	0	0	0	1	0	0	0	16898	130	5	5	412	5	TXNDC9	2	99944026	Missense_Mutation	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08	2990833	99944026	143255347	10	5889											
KCNH7	90134	broad.mit.edu	37	chr2	163360993	163360993	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgtgtgttcgatctttaAccttgggtgcaataatggtt	8	17	10	6	1	1	0	0	0	1	0	2	1	1	0	1	2	2	3	1	2	3	7			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:163360993A>G	ENST00000332142.5	-	6	1187	c.1088T>C	c.(1087-1089)gTt>gCt	p.V363A	KCNH7_ENST00000328032.4_Missense_Mutation_p.V356A|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	363					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCGATCTTTAACCTTGGGTGC	0.373													17	130					0	0	0	0	G	163360993	A	G	163360993	3	3	29	1	0	0	0	0	1	0	0	0	8090	43	2	5	2612	5	KCNH7	2	163360993	Missense_Mutation	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08	63416967	163360993	79838380	11	5890											
MYO1B	4430	broad.mit.edu	37	chr2	192250758	192250758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtgctctcggttcctcaAtgacacgtctctgcctcaca	8	11	7	15	2	4	1	2	1	2	0	7	1	5	1	2	1	2	2	2	1	2	1			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:192250758A>G	ENST00000392318.3	+	16	1749	c.1502A>G	c.(1501-1503)aAt>aGt	p.N501S	MYO1B_ENST00000339514.4_Missense_Mutation_p.N501S|MYO1B_ENST00000392316.1_Missense_Mutation_p.N501S|MYO1B_ENST00000304164.4_Missense_Mutation_p.N501S	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	501	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CGGTTCCTCAATGACACGTCT	0.532													22	254					0	0	0	0	G	192250758	A	G	192250758	3	3	29	1	0	0	0	0	1	0	0	0	10139	101	4	5	1560	5	MYO1B	2	192250758	Missense_Mutation	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08	28889765	192250758	50948615	12	5891											
STRADB	55437	broad.mit.edu	37	chr2	202337801	202337801	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgcctgaaagctttacaggTaacaatatgaagaaaatgat	18	9	8	6	1	0	4	0	3	0	1	0	4	0	4	1	1	3	2	1	1	8	4			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:202337801T>A	ENST00000194530.3	+	5	680		c.e5+2		STRADB_ENST00000392249.2_Splice_Site	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta						activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GCTTTACAGGTAACAATATGA	0.368													10	77					0	0	0	0	A	202337801	T	A	202337801	5	1	29	1	0	0	0	0	0	0	1	0	15415	1652	57	5	331	5	STRADB	2	202337801	Splice_Site	SNP	T	TCGA-BA-A6DD-01A-12D-A31L-08	10087043	202337801	40861572	13	5892											
BARD1	580	broad.mit.edu	37	chr2	215617235	215617235	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaatagcgatttcataCtttcatcatctgtataatcg	12	14	6	9	2	4	0	3	0	1	0	5	1	4	0	0	0	3	3	0	0	5	6			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:215617235C>A	ENST00000260947.4	-	7	1747	c.1613G>T	c.(1612-1614)aGt>aTt	p.S538I	BARD1_ENST00000449967.2_Missense_Mutation_p.S394I	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	538					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CGATTTCATACTTTCATCATC	0.373									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				7	74					1.12685e-05	1.22545e-05	1	0	A	215617235	C	A	215617235	3	1	29	1	0	0	0	0	1	0	0	0	1316	565	20	4	740	4	BARD1	2	215617235	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	13279434	215617235	27582138	14	5893											
CHRNG	1146	broad.mit.edu	37	chr2	233409224	233409224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtggccctctgcctgcctCgcagtgaactcctcttccag	5	10	10	16	1	2	1	0	1	2	0	5	1	4	1	5	2	3	1	5	2	1	1			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:233409224C>T	ENST00000389494.3	+	10	1204	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	CHRNG_ENST00000389492.3_Missense_Mutation_p.R343C	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	395					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CTGCCTGCCTCGCAGTGAACT	0.657													12	108					0	0	0	0	T	233409224	C	T	233409224	3	4	29	1	0	0	0	0	1	0	0	0	3425	884	31	1	1221	1	CHRNG	2	233409224	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	17791989	233409224	9790149	15	5894											
MTMR14	64419	broad.mit.edu	37	chr3	9695337	9695337	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaagagatgtctggagctGtttggccgagactactgttt	9	12	14	6	1	1	3	0	0	1	3	1	7	1	4	1	2	2	3	1	2	2	3			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr3:9695337G>T	ENST00000296003.4	+	2	314	c.192G>T	c.(190-192)ctG>ctT	p.L64L	MTMR14_ENST00000353332.5_Silent_p.L64L|MTMR14_ENST00000351233.5_Silent_p.L64L|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	64						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GTCTGGAGCTGTTTGGCCGAG	0.507													29	103					8.88839e-20	1.04499e-19	1	0	T	9695337	G	T	9695337	2	4	29	1	0	0	0	0	0	0	0	1	10012	1364	48	4		4	MTMR14	3	9695337	Silent	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08		9695337	188327093	16	5895											
MYLK	4638	broad.mit.edu	37	chr3	123451756	123451756	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tactcactttccacttggagGgtccagctacaggacagctg	9	10	10	12	0	1	0	1	0	0	0	3	2	3	2	2	3	4	2	2	3	2	4			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr3:123451756G>T	ENST00000360772.3	-	12	1881	c.1503C>A	c.(1501-1503)acC>acA	p.T501T	MYLK_ENST00000475616.1_Silent_p.T501T|MYLK_ENST00000360304.3_Silent_p.T501T|MYLK_ENST00000359169.1_Silent_p.T501T|MYLK_ENST00000346322.5_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase	501	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCACTTGGAGGGTCCAGCTAC	0.567													17	44					0.000958276	0.00101671	1	0	T	123451756	G	T	123451756	2	4	29	1	0	0	0	0	0	0	0	1	10126	1219	43	4		4	MYLK	3	123451756	Silent	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08	113756419	123451756	74570674	17	5896											
GRK7	131890	broad.mit.edu	37	chr3	141535597	141535597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaacatcatttctttaaaaCgatcaactttcctcgcctgg	12	13	5	11	2	3	0	2	0	1	0	5	2	4	0	2	1	3	0	2	1	4	4			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr3:141535597C>T	ENST00000264952.2	+	4	1504	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	456	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TTCTTTAAAACGATCAACTTT	0.423													12	136					0	0	0	0	T	141535597	C	T	141535597	3	4	29	1	0	0	0	0	1	0	0	0	6844	536	19	1	1381	1	GRK7	3	141535597	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	18083841	141535597	56486833	18	5897											
KIAA0232	9778	broad.mit.edu	37	chr4	6878388	6878388	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccattccaaatgattaagaAtgttacacaaatgccaaggg	16	10	7	8	0	0	2	0	1	0	1	2	2	2	2	3	1	2	1	3	1	6	3			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr4:6878388A>T	ENST00000307659.5	+	9	4367	c.3910_splice	c.e9-1	p.E1304_splice	KIAA0232_ENST00000425103.1_Splice_Site_p.E1304_splice	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1304							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ATGATTAAGAATGTTACACAA	0.363													5	46					0	0	0	0	T	6878388	A	T	6878388	5	4	29	1	0	0	0	0	0	0	1	0	8214	115	4	5	3938	5	KIAA0232	4	6878388	Splice_Site	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08		6878388	184275888	19	5898											
YIPF7	285525	broad.mit.edu	37	chr4	44638032	44638032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctgaaaaaattgtcctgCgtaacccgatgacatgagca	13	9	10	9	2	0	3	0	3	0	0	1	4	1	3	2	1	3	3	2	1	4	2			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr4:44638032C>T	ENST00000332990.5	-	3	275	c.259G>A	c.(259-261)Gca>Aca	p.A87T		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	87						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						AATTGTCCTGCGTAACCCGAT	0.403													7	35					0	0	0	0	T	44638032	C	T	44638032	3	4	29	1	0	0	0	0	1	0	0	0	17579	768	27	1	599	1	YIPF7	4	44638032	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	37759644	44638032	146516244	20	5899											
NEUROG2	63973	broad.mit.edu	37	chr4	113436581	113436581	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggccgatccgagcagcacTaacacgtcctcttcctcctt	8	9	8	16	3	1	0	0	0	1	0	5	3	5	0	5	1	3	2	5	1	1	3			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr4:113436581T>C	ENST00000313341.3	-	2	377	c.51A>G	c.(49-51)ttA>ttG	p.L17L	RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	17					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CGAGCAGCACTAACACGTCCT	0.602													11	36					0	0	0	0	C	113436581	T	C	113436581	2	2	29	1	0	0	0	0	0	0	0	1	10423	1519	53	5		5	NEUROG2	4	113436581	Silent	SNP	T	TCGA-BA-A6DD-01A-12D-A31L-08	68798549	113436581	77717695	21	5900											
LARP1B	55132	broad.mit.edu	37	chr4	129043120	129043120	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttactgattggtctgataAtgattcagattatgaaattg	13	17	8	3	0	2	5	1	4	1	1	2	5	2	5	0	1	1	0	0	1	4	7			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr4:129043120A>C	ENST00000326639.6	+	11	1512	c.1301A>C	c.(1300-1302)aAt>aCt	p.N434T	LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.N387T|LARP1B_ENST00000427266.1_Missense_Mutation_p.N434T|LARP1B_ENST00000512292.1_Missense_Mutation_p.N434T|LARP1B_ENST00000441387.1_Missense_Mutation_p.N434T	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	434							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TGGTCTGATAATGATTCAGAT	0.333													9	51					0	0	0	0	C	129043120	A	C	129043120	3	2	29	1	0	0	0	0	1	0	0	0	8682	101	4	5	1424	5	LARP1B	4	129043120	Missense_Mutation	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08	15606539	129043120	62111156	22	5901											
ACOT12	134526	broad.mit.edu	37	chr5	80640726	80640726	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctttgaaatgggttggAttctgggaaacgtgatgaga	11	12	14	4	1	1	4	0	4	1	1	1	7	1	6	1	3	1	1	1	3	2	3			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr5:80640726A>T	ENST00000307624.3	-	8	936	c.908T>A	c.(907-909)aTc>aAc	p.I303N		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	303					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AATGGGTTGGATTCTGGGAAA	0.478													6	61					0	0	0	0	T	80640726	A	T	80640726	3	4	29	1	0	0	0	0	1	0	0	0	150	333	12	5	791	5	ACOT12	5	80640726	Missense_Mutation	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08		80640726	100274534	23	5902											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731367	140731367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggggtggtgttcgcgcagCgcgccttcgaccacgagcag	5	6	17	13	7	0	0	0	0	0	0	2	2	0	0	2	3	2	3	2	3	0	2			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr5:140731367C>T	ENST00000523390.1	+	1	1540	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCGCGCAGCGCGCCTTCGA	0.682													11	88					0	0	0	0	T	140731367	C	T	140731367	3	4	29	1	0	0	0	0	1	0	0	0	11633	768	27	1	1542	1	PCDHGB1	5	140731367	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	60090641	140731367	40183893	24	5903											
PCDHGC5	56097	broad.mit.edu	37	chr5	140871023	140871023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccaggactcaccctcccCggacttctataagcagtcca	9	7	8	17	2	2	0	1	0	1	0	4	2	4	2	5	2	1	1	5	2	2	3			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr5:140871023C>T	ENST00000252087.1	+	1	2216	c.2216C>T	c.(2215-2217)cCg>cTg	p.P739L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		739					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCCTCCCCGGACTTCTAT	0.632													7	80					0	0	0	0	T	140871023	C	T	140871023	3	4	29	1	0	0	0	0	1	0	0	0	11642	652	23	1	2218	1	PCDHGC5	5	140871023	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	139656	140871023	40044237	25	5904											
GRXCR2	643226	broad.mit.edu	37	chr5	145252448	145252448	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgcttcaatactcgaccGctgtaggaggaggagatttt	10	11	11	9	2	1	1	1	0	0	1	2	5	1	3	2	3	2	3	2	3	3	5	rs141618183	byFrequency	TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr5:145252448G>A	ENST00000377976.1	-	1	83	c.84C>T	c.(82-84)agC>agT	p.S28S		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	28										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ATACTCGACCGCTGTAGGAGG	0.468													12	150					0	0	0	0	A	145252448	G	A	145252448	2	1	29	1	0	0	0	0	0	0	0	1	6863	1078	38	1		1	GRXCR2	5	145252448	Silent	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08	4381425	145252448	35662812	26	5905											
FOXC1	2296	broad.mit.edu	37	chr6	1611463	1611465	+	In_Frame_Del	DEL	CAG	CAG	-																															cccaagatcgagagccccgaCagcagcagcagcagcctgtc																										TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr6:1611463_1611465delCAG	ENST00000380874.2	+	1	783_785	c.783_785delCAG	c.(781-786)gac>ga	p.DS261del		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	261					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		AGAGCCCCGACAGCAGCAGCAGC	0.793													2	4	---	---	---	---					-	1611465	CAG	-	1611463	7	5	29	1	0	1	0	1	0	0	0	0	6039	477	17	0	785	0	FOXC1	6	1611463	In_Frame_Del	DEL	CAG	TCGA-BA-A6DD-01A-12D-A31L-08		1611463	169503604	27	5906											
TRIM38	10475	broad.mit.edu	37	chr6	25983471	25983471	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacaagtgactcgtggataCacccaggagaatcaggacac	15	5	11	10	1	1	3	1	1	0	2	2	6	1	5	1	3	1	0	1	3	3	1			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr6:25983471C>T	ENST00000357085.3	+	8	1430	c.954C>T	c.(952-954)taC>taT	p.Y318Y	TRIM38_ENST00000349458.3_Silent_p.Y318Y	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	318	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CTCGTGGATACACCCAGGAGA	0.463													9	54					0	0	0	0	T	25983471	C	T	25983471	2	4	29	1	0	0	0	0	0	0	0	1	16607	489	17	4		4	TRIM38	6	25983471	Silent	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	24372008	25983471	145131596	28	5907											
C6orf89	221477	broad.mit.edu	37	chr6	36870018	36870018	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctcgcaaccttgggattaAtcttgctcactgcctacttt	7	16	6	12	1	3	0	1	0	2	0	4	1	3	1	2	1	4	2	2	1	3	6			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr6:36870018A>T	ENST00000480824.2	+	4	505	c.211A>T	c.(211-213)Atc>Ttc	p.I71F	C6orf89_ENST00000510325.2_Intron|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000373685.1_Missense_Mutation_p.I71F|C6orf89_ENST00000355190.3_Missense_Mutation_p.I78F			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	71						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CTTGGGATTAATCTTGCTCAC	0.428													11	91					0	0	0	0	T	36870018	A	T	36870018	3	4	29	1	0	0	0	0	1	0	0	0	2395	101	4	5	242	5	C6orf89	6	36870018	Missense_Mutation	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08	10886547	36870018	134245049	29	5908											
RUNX2	860	broad.mit.edu	37	chr6	45459744	45459744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctcagtgatttagggcGcattcctcatcccagtatga	8	11	9	13	2	2	2	2	2	0	0	4	2	4	2	4	1	0	2	4	1	2	4			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr6:45459744G>A	ENST00000371438.1	+	5	1110	c.752G>A	c.(751-753)cGc>cAc	p.R251H	RUNX2_ENST00000359524.5_Missense_Mutation_p.R237H|RUNX2_ENST00000576263.1_Missense_Mutation_p.R251H|RUNX2_ENST00000371436.6_Missense_Mutation_p.R251H|RUNX2_ENST00000371432.3_Missense_Mutation_p.R237H|RUNX2_ENST00000465038.2_Missense_Mutation_p.R251H|RUNX2_ENST00000541979.1_Missense_Mutation_p.R319H|RUNX2_ENST00000352853.5_Missense_Mutation_p.R319H	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	251	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GATTTAGGGCGCATTCCTCAT	0.473													4	156					0	0	0	0	A	45459744	G	A	45459744	3	1	29	1	0	0	0	0	1	0	0	0	13833	1087	38	1	786	1	RUNX2	6	45459744	Missense_Mutation	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08	8589726	45459744	125655323	30	5909											
PHF3	23469	broad.mit.edu	37	chr6	64394926	64394926	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttggaccggaaagtaatAtcttggaaaatgctatttgt	12	15	9	5	1	1	0	0	0	1	0	1	3	1	3	1	3	1	2	1	3	6	7			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr6:64394926A>G	ENST00000262043.3	+	4	1643	c.1303A>G	c.(1303-1305)Atc>Gtc	p.I435V	PHF3_ENST00000393387.1_Missense_Mutation_p.I435V|PHF3_ENST00000509330.1_Missense_Mutation_p.I435V			Q92576	PHF3_HUMAN	PHD finger protein 3	435					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GGAAAGTAATATCTTGGAAAA	0.368													12	114					0	0	0	0	G	64394926	A	G	64394926	3	3	29	1	0	0	0	0	1	0	0	0	11908	449	16	5	1313	5	PHF3	6	64394926	Missense_Mutation	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08	18935182	64394926	106720141	31	5910											
SNX10	29887	broad.mit.edu	37	chr7	26404670	26404670	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttctttctcctaagacaActgccagaacttccatctaa	11	15	3	12	0	3	2	0	0	3	2	5	2	4	2	3	0	3	0	3	0	4	6			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr7:26404670A>G	ENST00000338523.4	+	5	403	c.216A>G	c.(214-216)caA>caG	p.Q72Q	SNX10_ENST00000446848.2_Silent_p.Q98Q|SNX10_ENST00000409367.1_Silent_p.Q32Q|SNX10_ENST00000409838.1_5'UTR|SNX10_ENST00000396376.1_Silent_p.Q72Q	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	72	PX.				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						TCCTAAGACAACTGCCAGAAC	0.393											OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	49					0	0	0	0	G	26404670	A	G	26404670	2	3	29	1	0	0	0	0	0	0	0	1	14969	40	2	5		5	SNX10	7	26404670	Silent	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08		26404670	132733993	32	5911											
GUSB	2990	broad.mit.edu	37	chr7	65426002	65426002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgctgcactttttggttgtCtctgccgagtgaagatcccc	6	13	10	12	2	1	2	0	1	1	1	3	3	2	2	3	1	2	3	3	1	1	3			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr7:65426002C>G	ENST00000304895.4	-	12	1968	c.1838G>C	c.(1837-1839)aGa>aCa	p.R613T	GUSB_ENST00000345660.6_Missense_Mutation_p.R562T|GUSB_ENST00000421103.1_Missense_Mutation_p.R467T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	613					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TTTTGGTTGTCTCTGCCGAGT	0.448													27	198					0	0	0	0	G	65426002	C	G	65426002	3	3	29	1	0	0	0	0	1	0	0	0	6952	913	32	2	121	2	GUSB	7	65426002	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	39021332	65426002	93712661	33	5912											
TMEM120A	83862	broad.mit.edu	37	chr7	75616818	75616821	+	RNA	DEL	GACA	GACA	-																															cgaaaccggcgcagaggacgGacagacagacaggcagggac																								rs71741566		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr7:75616818_75616821delGACA	ENST00000493111.2	-	0	849				TMEM120A_ENST00000338761.4_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral to membrane											GCAGAGGACGGACAGACAGACAGG	0.574													6	6	---	---	---	---					-	75616821	GACA	-	75616818	6	5	29	0	1	1	0	1	0	0	0	0	16127	1189	41	0		0	TMEM120A	7	75616818	RNA	DEL	GACA	TCGA-BA-A6DD-01A-12D-A31L-08	10190816	75616818	83521845	34	5913											
FZD1	8321	broad.mit.edu	37	chr7	90895444	90895444	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttcagcatggccagcTccatctggtgggtgatcctg	6	12	11	12	0	3	1	1	1	2	0	5	1	5	1	3	3	2	2	3	3	0	2			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr7:90895444T>G	ENST00000287934.2	+	1	1662	c.1249T>G	c.(1249-1251)Tcc>Gcc	p.S417A		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	417					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CATGGCCAGCTCCATCTGGTG	0.602													8	63					0	0	0	0	G	90895444	T	G	90895444	3	3	29	1	0	0	0	0	1	0	0	0	6176	1551	54	5	1251	5	FZD1	7	90895444	Missense_Mutation	SNP	T	TCGA-BA-A6DD-01A-12D-A31L-08	15278626	90895444	68243219	35	5914											
FEZF1	389549	broad.mit.edu	37	chr7	121942264	121942264	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgcagaaacccttgccGcacgtggggcaggtgaaagg	9	7	14	11	2	0	2	0	1	0	1	1	2	1	2	3	4	3	3	3	4	2	2			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr7:121942264G>A	ENST00000442488.2	-	4	1282	c.1215C>T	c.(1213-1215)tgC>tgT	p.C405C	FEZF1_ENST00000331178.4_Silent_p.C401C|FEZF1_ENST00000427185.2_Silent_p.C355C	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	405					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AACCCTTGCCGCACGTGGGGC	0.572													4	123					0	0	0	0	A	121942264	G	A	121942264	2	1	29	1	0	0	0	0	0	0	0	1	5870	1079	38	1		1	FEZF1	7	121942264	Silent	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08	31046820	121942264	37196399	36	5915											
STAR	6770	broad.mit.edu	37	chr8	38006158	38006158	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccagaagcctcagcacttaCcgagtagagagctccgccgc	10	5	10	16	3	1	2	1	0	0	2	2	4	2	2	5	0	4	3	5	0	3	2			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr8:38006158C>T	ENST00000276449.4	-	2	625		c.e2+1			NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein						C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TCAGCACTTACCGAGTAGAGA	0.637													8	52					0	0	0	0	T	38006158	C	T	38006158	5	4	29	1	0	0	0	0	0	0	1	0	15344	521	18	4	702	4	STAR	8	38006158	Splice_Site	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08		38006158	108357864	37	5916											
HAUS6	54801	broad.mit.edu	37	chr9	19102605	19102605	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgagcgcctgcagatacatCcagagatgctccttctcgaa	10	8	9	14	3	1	2	0	0	1	2	4	5	3	2	4	0	4	2	4	0	2	2			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr9:19102605C>A	ENST00000380502.3	-	1	512	c.45G>T	c.(43-45)tgG>tgT	p.W15C		NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	15					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCAGATACATCCAGAGATGCT	0.637													6	42					0.0293803	0.029722	1	0	A	19102605	C	A	19102605	3	1	29	1	0	0	0	0	1	0	0	0	7020	856	30	2	2890	2	HAUS6	9	19102605	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08		19102605	122110826	38	5917											
CDKN2A	1029	broad.mit.edu	37	chr9	21968242	21968242	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctttcaatcggggatgtCtgcagagggcagaaagaaaa	13	9	13	6	1	3	3	1	0	2	3	4	4	3	4	0	3	1	3	0	3	4	2			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr9:21968242C>T	ENST00000579755.1	-	3	793		c.e3-1		CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(6)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGGGATGTCTGCAGAGGGC	0.542		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	38					0	0	0	0	T	21968242	C	T	21968242	5	4	29	1	0	0	0	0	0	0	1	0	3190	927	32	2	17	2	CDKN2A	9	21968242	Splice_Site	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	2865637	21968242	119245189	39	5918											
RECK	8434	broad.mit.edu	37	chr9	36058859	36058859	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaatcccgactaaaacaTctgttgcagcgagccccaga	13	7	9	12	2	1	2	0	1	1	1	2	4	2	2	3	0	4	2	3	0	3	2			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr9:36058859T>G	ENST00000377966.3	+	3	761	c.195T>G	c.(193-195)caT>caG	p.H65Q	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	65	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GACTAAAACATCTGTTGCAGC	0.328													7	45					0	0	0	0	G	36058859	T	G	36058859	3	3	29	1	0	0	0	0	1	0	0	0	13282	1432	50	5	205	5	RECK	9	36058859	Missense_Mutation	SNP	T	TCGA-BA-A6DD-01A-12D-A31L-08	14090617	36058859	105154572	40	5919											
PGM5	5239	broad.mit.edu	37	chr9	71098912	71098912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctacagcgtggcgaagaCggatagttttgaatacgtgg	10	11	14	6	4	1	2	0	1	1	1	1	4	1	3	0	3	3	1	0	3	5	5			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr9:71098912C>T	ENST00000396396.1	+	9	1656	c.1427C>T	c.(1426-1428)aCg>aTg	p.T476M		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	476					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GTGGCGAAGACGGATAGTTTT	0.502													12	111					0	0	0	0	T	71098912	C	T	71098912	3	4	29	1	0	0	0	0	1	0	0	0	11873	536	19	1	1461	1	PGM5	9	71098912	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	35040053	71098912	70114519	41	5920											
ZNF367	195828	broad.mit.edu	37	chr9	99157147	99157147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctctccggtgtgaagacGctgatgtgttttgagctgtc	5	16	12	8	2	1	4	0	3	1	1	4	4	2	4	1	1	1	3	1	1	1	3			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr9:99157147G>A	ENST00000375256.4	-	3	945	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	217					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GTGTGAAGACGCTGATGTGTT	0.388													16	39					0	0	0	0	A	99157147	G	A	99157147	3	1	29	1	0	0	0	0	1	0	0	0	17966	1087	38	1	415	1	ZNF367	9	99157147	Missense_Mutation	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08	28058235	99157147	42056284	42	5921											
C9orf84	158401	broad.mit.edu	37	chr9	114520394	114520394	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattgtatcttctagtttCtcttgacaaaagttcacttt	10	19	4	8	0	4	1	1	1	3	0	5	1	4	1	0	0	0	3	0	0	5	9			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr9:114520394C>A	ENST00000394779.3	-	3	613	c.369G>T	c.(367-369)gaG>gaT	p.E123D	C9orf84_ENST00000394777.4_Missense_Mutation_p.E123D|C9orf84_ENST00000318737.4_Missense_Mutation_p.E162D|C9orf84_ENST00000374283.5_Missense_Mutation_p.E226D|C9orf84_ENST00000374287.3_Missense_Mutation_p.E162D	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	162										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTTCTAGTTTCTCTTGACAAA	0.269													5	16					0.0215528	0.0220599	1	0	A	114520394	C	A	114520394	3	1	29	1	0	0	0	0	1	0	0	0	2525	912	32	2	3936	2	C9orf84	9	114520394	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	15363247	114520394	26693037	43	5922											
ABL1	25	broad.mit.edu	37	chr9	133755972	133755972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagctgcccaccaagacgagGacctccaggagagctgcaga	12	3	13	13	1	0	3	0	0	0	3	1	7	1	4	4	2	4	3	4	2	1	0			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr9:133755972G>T	ENST00000318560.5	+	10	1980	c.1599G>T	c.(1597-1599)agG>agT	p.R533S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	533					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|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|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|SH3 domain 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)	CCAAGACGAGGACCTCCAGGA	0.602			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								13	39					9.05144e-12	1.04997e-11	1	0	T	133755972	G	T	133755972	3	4	29	1	0	0	0	0	1	0	0	0	92	1165	41	2	1777	2	ABL1	9	133755972	Missense_Mutation	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08	19235578	133755972	7457459	44	5923											
PFKFB3	5209	broad.mit.edu	37	chr10	6265929	6265929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcaatttcagaggagatgCcctacctgaaatgccctctt	10	13	7	11	0	3	3	2	1	1	2	3	4	3	3	3	1	3	0	3	1	3	4			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr10:6265929C>T	ENST00000379775.4	+	12	1552	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S	PFKFB3_ENST00000379789.4_Missense_Mutation_p.P388S|PFKFB3_ENST00000360521.2_Missense_Mutation_p.P408S|PFKFB3_ENST00000317350.4_Missense_Mutation_p.P408S|PFKFB3_ENST00000540253.1_Missense_Mutation_p.P422S|PFKFB3_ENST00000379782.3_Missense_Mutation_p.P408S|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379785.1_Missense_Mutation_p.P408S	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	408	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						AGAGGAGATGCCCTACCTGAA	0.562													4	164					0	0	0	0	T	6265929	C	T	6265929	3	4	29	1	0	0	0	0	1	0	0	0	11834	739	26	4	1288	4	PFKFB3	10	6265929	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08		6265929	129268818	45	5924											
PTPRE	5791	broad.mit.edu	37	chr10	129877893	129877893	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgagtaaaagccgagggActtttagatgtatttcaagc	13	10	12	6	2	1	1	1	0	0	1	1	5	1	2	1	1	3	2	1	1	5	5	rs17854594		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr10:129877893A>C	ENST00000254667.3	+	20	2241	c.1962A>C	c.(1960-1962)ggA>ggC	p.G654G	PTPRE_ENST00000419012.2_Silent_p.G654G|PTPRE_ENST00000306042.5_Silent_p.G596G	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	654	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AAGCCGAGGGACTTTTAGATG	0.448													5	46					0	0	0	0	C	129877893	A	C	129877893	2	2	29	1	0	0	0	0	0	0	0	1	12882	262	10	5		5	PTPRE	10	129877893	Silent	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08	123611964	129877893	5656854	46	5925											
CCDC84	338657	broad.mit.edu	37	chr11	118881943	118881943	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacagatggcagctcagAtccgtgaggtggagcagagc	10	6	14	11	1	1	4	1	1	0	3	3	5	3	5	2	3	3	3	2	3	0	0			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr11:118881943A>G	ENST00000334418.1	+	5	519	c.463A>G	c.(463-465)Atc>Gtc	p.I155V	CCDC84_ENST00000580556.1_3'UTR	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	155										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GGCAGCTCAGATCCGTGAGGT	0.562													7	52					0	0	0	0	G	118881943	A	G	118881943	3	3	29	1	0	0	0	0	1	0	0	0	2885	333	12	5	481	5	CCDC84	11	118881943	Missense_Mutation	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08		118881943	16124573	47	5926											
FGD6	55785	broad.mit.edu	37	chr12	95604446	95604446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaccattcatttctgggCtgtctgtgggcctgtgcttc	4	14	11	12	0	3	0	1	0	2	0	4	0	3	0	3	2	2	2	3	2	0	3	rs146520684		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr12:95604446C>A	ENST00000343958.4	-	2	837	c.614G>T	c.(613-615)aGc>aTc	p.S205I	FGD6_ENST00000549499.1_Missense_Mutation_p.S205I|FGD6_ENST00000546711.1_Missense_Mutation_p.S205I	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	205					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CATTTCTGGGCTGTCTGTGGG	0.418													7	85					2.7689e-08	3.16966e-08	1	0	A	95604446	C	A	95604446	3	1	29	1	0	0	0	0	1	0	0	0	5882	797	28	4	3758	4	FGD6	12	95604446	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08		95604446	38247449	48	5927											
MMAB	326625	broad.mit.edu	37	chr12	109998858	109998858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttaccgtctctcggcccGgcggcacacggcccggcaga	5	6	12	18	6	2	1	0	0	2	1	4	1	2	1	3	5	1	2	3	5	1	1			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr12:109998858G>A	ENST00000545712.2	-	7	964	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	MMAB_ENST00000266839.5_Missense_Mutation_p.R100W|MMAB_ENST00000540016.1_Missense_Mutation_p.R139W	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	191			R -> W (in MMAB).		cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCTCGGCCCGGCGGCACACG	0.657													8	48					0	0	0	0	A	109998858	G	A	109998858	3	1	29	1	0	0	0	0	1	0	0	0	9709	1115	39	1	193	1	MMAB	12	109998858	Missense_Mutation	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08	14394412	109998858	23853037	49	5928											
LRRC43	254050	broad.mit.edu	37	chr12	122677440	122677440	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagtcaggagagtcggAgctgtctgtcatctcggggc	7	8	18	8	2	4	1	2	0	2	1	6	5	4	4	0	6	1	1	0	6	0	0			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr12:122677440A>T	ENST00000339777.4	+	7	1266	c.1238A>T	c.(1237-1239)gAg>gTg	p.E413V	LRRC43_ENST00000425921.1_Missense_Mutation_p.E228V	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	413	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GGAGAGTCGGAGCTGTCTGTC	0.567													9	48					0	0	0	0	T	122677440	A	T	122677440	3	4	29	1	0	0	0	0	1	0	0	0	9065	304	11	5	1264	5	LRRC43	12	122677440	Missense_Mutation	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08	12678582	122677440	11174455	50	5929											
OR4K5	79317	broad.mit.edu	37	chr14	20389008	20389008	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgctacccctaaaatGattgcagattttctgagtgc	9	16	7	9	0	2	3	0	2	2	1	2	3	2	3	2	0	4	2	2	0	3	7			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr14:20389008G>T	ENST00000315915.4	+	1	268	c.243G>T	c.(241-243)atG>atT	p.M81I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M81I(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCCCTAAAATGATTGCAGATT	0.438													16	200					1.15088e-07	1.30034e-07	1	0	T	20389008	G	T	20389008	3	4	29	1	0	0	0	0	1	0	0	0	11144	1290	45	2	245	2	OR4K5	14	20389008	Missense_Mutation	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08		20389008	86960532	51	5930											
MPP5	64398	broad.mit.edu	37	chr14	67745984	67745984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaacatcagaagcacCgagagatggctgttgactgc	13	6	13	9	1	1	4	1	1	0	3	1	7	1	5	1	2	3	3	1	2	2	1			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr14:67745984C>G	ENST00000261681.4	+	3	758	c.97C>G	c.(97-99)Cga>Gga	p.R33G	MPP5_ENST00000555925.1_5'UTR|MPP5_ENST00000556345.1_Missense_Mutation_p.R33G	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	33	Interaction with PARD6B (By similarity).				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TCAGAAGCACCGAGAGATGGC	0.478													4	56					0	0	0	0	G	67745984	C	G	67745984	3	3	29	1	0	0	0	0	1	0	0	0	9807	644	23	3	99	3	MPP5	14	67745984	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	47356976	67745984	39603556	52	5931											
BDKRB2	624	broad.mit.edu	37	chr14	96706870	96706870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctctgggtgctgttcGtgctggccaccctagagaac	5	11	11	14	1	1	1	0	0	1	1	3	2	2	1	4	2	3	3	4	2	2	3			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr14:96706870G>A	ENST00000542454.2	+	3	3212	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	BDKRB2_ENST00000554311.1_Missense_Mutation_p.V69M|BDKRB2_ENST00000306005.3_Missense_Mutation_p.V69M|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Missense_Mutation_p.V42M			P30411	BKRB2_HUMAN	bradykinin receptor B2	69					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GGTGCTGTTCGTGCTGGCCAC	0.612													23	140					0	0	0	0	A	96706870	G	A	96706870	3	1	29	1	0	0	0	0	1	0	0	0	1397	1145	40	1	211	1	BDKRB2	14	96706870	Missense_Mutation	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08	28960886	96706870	10642670	53	5932											
GCOM1	145781	broad.mit.edu	37	chr15	57913834	57913834	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactttggaaaaggtgagaaAgcgaatgtatggagactatg	15	9	13	4	1	0	2	0	1	0	2	0	6	0	3	0	3	1	1	0	3	6	3			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr15:57913834A>T	ENST00000574161.1	+	4	466	c.347A>T	c.(346-348)aAg>aTg	p.K116M	GCOM1_ENST00000380569.2_Missense_Mutation_p.K116M|GCOM1_ENST00000380561.2_Intron|MYZAP_ENST00000267853.5_Missense_Mutation_p.K116M|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000587652.1_Missense_Mutation_p.K116M|GCOM1_ENST00000380568.3_Missense_Mutation_p.K116M|GCOM1_ENST00000572390.1_Missense_Mutation_p.K116M|GCOM1_ENST00000380560.2_Intron|MYZAP_ENST00000380565.4_Missense_Mutation_p.K116M|POLR2M_ENST00000380563.2_Intron	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		116					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AAGGTGAGAAAGCGAATGTAT	0.403													10	80					0	0	0	0	T	57913834	A	T	57913834	3	4	29	1	0	0	0	0	1	0	0	0	6354	72	3	5	361	5	GCOM1	15	57913834	Missense_Mutation	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08		57913834	44617558	54	5933											
SNX22	79856	broad.mit.edu	37	chr15	64446598	64446598	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccacagagtcgctgcccaAcgtggtggtgaatggtgtgc	7	9	14	11	2	0	2	0	1	0	1	2	2	1	2	2	3	3	1	2	3	2	0			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr15:64446598A>G	ENST00000325881.4	+	7	532	c.473A>G	c.(472-474)aAc>aGc	p.N158S		NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	158					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			large_intestine(3)|lung(1)|urinary_tract(2)	6						TCGCTGCCCAACGTGGTGGTG	0.597											OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	153					0	0	0	0	G	64446598	A	G	64446598	3	3	29	1	0	0	0	0	1	0	0	0	14982	43	2	5	499	5	SNX22	15	64446598	Missense_Mutation	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08	6532764	64446598	38084794	55	5934											
MYO9A	4649	broad.mit.edu	37	chr15	72142383	72142383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaactggccttacgtggtaGtcttactgatgtcctgtaca	8	14	10	9	1	1	1	0	1	1	0	2	1	2	1	2	2	4	3	2	2	5	5			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr15:72142383G>C	ENST00000356056.5	-	38	7179	c.6707C>G	c.(6706-6708)aCt>aGt	p.T2236S	MYO9A_ENST00000564571.1_Missense_Mutation_p.T2236S|MYO9A_ENST00000424560.1_Missense_Mutation_p.T2307S|MYO9A_ENST00000444904.1_Missense_Mutation_p.T2217S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2236	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTACGTGGTAGTCTTACTGAT	0.468													5	69					0	0	0	0	C	72142383	G	C	72142383	3	2	29	1	0	0	0	0	1	0	0	0	10154	1029	36	4	959	4	MYO9A	15	72142383	Missense_Mutation	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08	7695785	72142383	30389009	56	5935											
STRA6	64220	broad.mit.edu	37	chr15	74474544	74474544	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatgagtctccaggaagAcccaatgggctgccatgttc	10	9	10	12	0	2	2	1	1	1	1	4	3	2	3	3	2	1	2	3	2	2	1			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr15:74474544A>T	ENST00000323940.5	-	16	1723	c.1478T>A	c.(1477-1479)gTc>gAc	p.V493D	STRA6_ENST00000395105.4_Missense_Mutation_p.V493D|STRA6_ENST00000416286.3_Missense_Mutation_p.V485D|STRA6_ENST00000563965.1_Missense_Mutation_p.V532D|STRA6_ENST00000449139.2_Missense_Mutation_p.V493D|STRA6_ENST00000423167.2_Missense_Mutation_p.V484D|STRA6_ENST00000574278.1_Missense_Mutation_p.V508D|STRA6_ENST00000535552.1_Missense_Mutation_p.V530D|STRA6_ENST00000574439.1_5'UTR	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	493					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CTCCAGGAAGACCCAATGGGC	0.622													8	72					0	0	0	0	T	74474544	A	T	74474544	3	4	29	1	0	0	0	0	1	0	0	0	15412	275	10	5	541	5	STRA6	15	74474544	Missense_Mutation	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08	2332161	74474544	28056848	57	5936											
GRIN2A	2903	broad.mit.edu	37	chr16	10032120	10032120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcagaatgagaacagcctCgtctttggaacagtagagca	14	8	10	9	1	2	3	1	1	1	3	3	5	2	4	1	1	4	2	1	1	4	2			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr16:10032120C>T	ENST00000396573.2	-	4	1012	c.703G>A	c.(703-705)Gag>Aag	p.E235K	GRIN2A_ENST00000562109.1_Missense_Mutation_p.E235K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E235K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E78K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E235K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E235K|GRIN2A_ENST00000566670.1_5'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	235					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGAACAGCCTCGTCTTTGGAA	0.507													7	61					0	0	0	0	T	10032120	C	T	10032120	3	4	29	1	0	0	0	0	1	0	0	0	6829	893	31	1	3735	1	GRIN2A	16	10032120	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08		10032120	80322633	58	5937											
KIAA0556	23247	broad.mit.edu	37	chr16	27777718	27777718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccatgtggtcacgatcCgcctggacagggccgaaagc	9	6	14	12	3	1	0	1	0	0	0	2	4	2	2	4	4	1	0	4	4	1	0			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr16:27777718C>T	ENST00000261588.4	+	20	3917	c.3898C>T	c.(3898-3900)Cgc>Tgc	p.R1300C		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1300										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGTCACGATCCGCCTGGACAG	0.582													11	78					0	0	0	0	T	27777718	C	T	27777718	3	4	29	1	0	0	0	0	1	0	0	0	8234	652	23	1	3976	1	KIAA0556	16	27777718	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	17745598	27777718	62577035	59	5938											
CCDC101	112869	broad.mit.edu	37	chr16	28596281	28596281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttagtgaacatccagaagacCcatgagcggatgcagacaga	15	6	11	9	1	0	6	0	2	0	4	1	7	1	7	2	1	3	1	2	1	3	1			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr16:28596281C>T	ENST00000317058.3	+	3	310	c.123C>T	c.(121-123)acC>acT	p.T41T		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	41					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						TCCAGAAGACCCATGAGCGGA	0.542													7	61					0	0	0	0	T	28596281	C	T	28596281	2	4	29	1	0	0	0	0	0	0	0	1	2760	610	22	4		4	CCDC101	16	28596281	Silent	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	818563	28596281	61758472	60	5939											
MMP15	4324	broad.mit.edu	37	chr16	58071493	58071493	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcttctacgggatcccaGtcaccggtgtgctcgacgaa	8	8	12	13	5	2	0	1	0	1	0	4	3	3	1	2	2	3	2	2	2	2	2			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr16:58071493G>C	ENST00000219271.3	+	2	1065	c.280G>C	c.(280-282)Gtc>Ctc	p.V94L		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	94					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGGATCCCAGTCACCGGTGT	0.627													8	93					0	0	0	0	C	58071493	G	C	58071493	3	2	29	1	0	0	0	0	1	0	0	0	9723	1029	36	4	286	4	MMP15	16	58071493	Missense_Mutation	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08	29475212	58071493	32283260	61	5940											
DHX33	56919	broad.mit.edu	37	chr17	5347733	5347733	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtccgtggtggcataggtgCcatctggctgaagctcggcg	5	10	16	10	3	1	1	0	1	1	0	3	1	2	1	2	5	2	3	2	5	2	1			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr17:5347733C>G	ENST00000225296.3	-	12	2116	c.1916G>C	c.(1915-1917)gGc>gCc	p.G639A	DHX33_ENST00000433302.3_Missense_Mutation_p.G415A	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	639						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGCATAGGTGCCATCTGGCTG	0.622													10	60					0	0	0	0	G	5347733	C	G	5347733	3	3	29	1	0	0	0	0	1	0	0	0	4543	739	26	4	211	4	DHX33	17	5347733	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08		5347733	75847477	62	5941											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	16					0	0	0	0	T	7577120	C	T	7577120	3	4	29	1	0	0	0	0	1	0	0	0	16476	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	2229387	7577120	73618090	63	5942											
TRPV2	51393	broad.mit.edu	37	chr17	16336965	16336965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaggtgtgatgctgacCgttggcactaagccagatgg	8	8	16	9	2	0	3	0	2	0	1	0	3	0	3	2	4	2	4	2	4	1	2			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr17:16336965C>T	ENST00000338560.7	+	13	2466	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	TRPV2_ENST00000577397.1_Silent_p.T259T	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	689					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGATGCTGACCGTTGGCACTA	0.587													32	90					0	0	0	0	T	16336965	C	T	16336965	2	4	29	1	0	0	0	0	0	0	0	1	16691	639	23	1		1	TRPV2	17	16336965	Silent	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	8759845	16336965	64858245	64	5943											
ATAD5	79915	broad.mit.edu	37	chr17	29219776	29219776	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccttaagaacattttttcCccatctgaagacttattttc	10	16	5	10	0	1	3	0	1	1	2	3	3	2	3	3	1	1	0	3	1	4	7			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr17:29219776C>T	ENST00000321990.4	+	20	4788	c.4410C>T	c.(4408-4410)tcC>tcT	p.S1470S		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1470					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ACATTTTTTCCCCATCTGAAG	0.328													5	121					0	0	0	0	T	29219776	C	T	29219776	2	4	29	1	0	0	0	0	0	0	0	1	1080	610	22	4		4	ATAD5	17	29219776	Silent	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	12882811	29219776	51975434	65	5944											
KIAA0195	9772	broad.mit.edu	37	chr17	73484066	73484066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgccatgtatccagacCtccacatgccttttgcgcca	8	10	7	16	1	0	1	0	0	0	1	2	1	2	1	7	0	3	1	7	0	1	3			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr17:73484066C>T	ENST00000314256.7	+	6	857	c.463C>T	c.(463-465)Ctc>Ttc	p.L155F	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000375248.5_Missense_Mutation_p.L165F	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	155					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTATCCAGACCTCCACATGCC	0.587													6	67					0	0	0	0	T	73484066	C	T	73484066	3	4	29	1	0	0	0	0	1	0	0	0	8211	681	24	4	481	4	KIAA0195	17	73484066	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	44264290	73484066	7711144	66	5945											
LRRC45	201255	broad.mit.edu	37	chr17	79985312	79985312	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcgagaagagatggccaaGagcagcaggtgagcgggccc	12	2	17	10	2	0	4	0	1	0	3	0	6	0	4	2	3	4	2	2	3	2	0			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr17:79985312G>A	ENST00000306688.3	+	7	1167	c.825G>A	c.(823-825)aaG>aaA	p.K275K		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	275						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGATGGCCAAGAGCAGCAGGT	0.617													12	90					0	0	0	0	A	79985312	G	A	79985312	2	1	29	1	0	0	0	0	0	0	0	1	9066	933	33	2		2	LRRC45	17	79985312	Silent	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08	6501246	79985312	1209898	67	5946											
FASN	2194	broad.mit.edu	37	chr17	80040889	80040889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagccacccagaccaccagCgatgatgtagctcttgtggg	10	7	12	12	1	1	2	0	1	1	1	1	4	1	2	4	1	3	2	4	1	2	2	rs139792253		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr17:80040889C>T	ENST00000306749.2	-	33	5886	c.5668G>A	c.(5668-5670)Gct>Act	p.A1890T	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1890	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGACCACCAGCGATGATGTAG	0.632													5	61					0	0	0	0	T	80040889	C	T	80040889	3	4	29	1	0	0	0	0	1	0	0	0	5728	768	27	1	1911	1	FASN	17	80040889	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08	55577	80040889	1154321	68	5947											
TMPRSS9	360200	broad.mit.edu	37	chr19	2422072	2422072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccaccagccccaggaCgacagctggcctcacagtcc	9	3	10	19	1	1	0	1	0	0	0	2	2	2	1	7	3	2	1	7	3	0	0	rs138523679	byFrequency	TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr19:2422072C>T	ENST00000332578.3	+	13	2273	c.2273C>T	c.(2272-2274)aCg>aTg	p.T758M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	758					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		AGCCCCAGGACGACAGCTGGC	0.657													9	76					0	0	0	0	T	2422072	C	T	2422072	3	4	29	1	0	0	0	0	1	0	0	0	16347	536	19	1	2323	1	TMPRSS9	19	2422072	Missense_Mutation	SNP	C	TCGA-BA-A6DD-01A-12D-A31L-08		2422072	56706911	69	5948											
MUC16	94025	broad.mit.edu	37	chr19	9091432	9091432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactggtcctggtccttgggGaactcaatcctgaaaccatg	10	10	10	11	0	1	1	1	1	0	0	4	2	4	2	4	4	3	0	4	4	4	1			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr19:9091432G>T	ENST00000397910.4	-	1	586	c.383C>A	c.(382-384)tCc>tAc	p.S128Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	128	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						GGTCCTTGGGGAACTCAATCC	0.502													9	86					0.335167	0.335167	1	0	T	9091432	G	T	9091432	3	4	29	1	0	0	0	0	1	0	0	0	10043	1174	41	2	43476	2	MUC16	19	9091432	Missense_Mutation	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08	6669360	9091432	50037551	70	5949											
OLFM2	93145	broad.mit.edu	37	chr19	9965152	9965152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagccggtgtcccaggaccGcatgacctcgagggtgtgcg	6	7	16	12	4	0	1	0	1	0	0	2	3	1	2	4	3	2	2	4	3	1	1			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr19:9965152G>A	ENST00000264833.4	-	6	1260	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	OLFM2_ENST00000590841.1_Missense_Mutation_p.R281W	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	359	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCCCAGGACCGCATGACCTCG	0.657													4	116					0	0	0	0	A	9965152	G	A	9965152	3	1	29	1	0	0	0	0	1	0	0	0	10924	1086	38	1	293	1	OLFM2	19	9965152	Missense_Mutation	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08	873720	9965152	49163831	71	5950											
NCOA3	8202	broad.mit.edu	37	chr20	46252789	46252789	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agataaatgtgcgattttaaAggaaacagtaagacagatac	19	9	9	4	1	0	3	0	0	0	3	0	5	0	4	0	1	3	1	0	1	7	5			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr20:46252789A>T	ENST00000372004.3	+	4	434	c.218A>T	c.(217-219)aAg>aTg	p.K73M	NCOA3_ENST00000371997.3_Missense_Mutation_p.K73M|NCOA3_ENST00000371998.3_Missense_Mutation_p.K73M|NCOA3_ENST00000341724.6_Missense_Mutation_p.K73M	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	73	Helix-loop-helix motif.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCGATTTTAAAGGAAACAGTA	0.358													6	45					0	0	0	0	T	46252789	A	T	46252789	3	4	29	1	0	0	0	0	1	0	0	0	10300	72	3	5	224	5	NCOA3	20	46252789	Missense_Mutation	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08		46252789	16772731	72	5951											
TIAM1	7074	broad.mit.edu	37	chr21	32617877	32617877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggggtgctcaggcaccGcctgcacaatgctgttctcc	5	11	11	14	1	3	0	1	0	2	0	4	0	3	0	3	3	3	5	3	3	1	2	rs146528832		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr21:32617877G>A	ENST00000286827.3	-	7	1982	c.1511C>T	c.(1510-1512)gCg>gTg	p.A504V	TIAM1_ENST00000541036.1_Missense_Mutation_p.A504V|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	504	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCAGGCACCGCCTGCACAAT	0.552													5	37					0	0	0	0	A	32617877	G	A	32617877	3	1	29	1	0	0	0	0	1	0	0	0	15984	1087	38	1	3356	1	TIAM1	21	32617877	Missense_Mutation	SNP	G	TCGA-BA-A6DD-01A-12D-A31L-08		32617877	15512018	73	5952											
CD40LG	959	broad.mit.edu	37	chrX	135741436	135741436	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatacccacagttccgccaaAccttgcgggcaacaatccat	13	7	6	15	2	0	0	0	0	0	0	2	0	2	0	5	1	4	2	5	1	5	3			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chrX:135741436A>C	ENST00000370629.2	+	5	704	c.648A>C	c.(646-648)aaA>aaC	p.K216N	CD40LG_ENST00000370628.2_Missense_Mutation_p.K195N	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	216					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	GTTCCGCCAAACCTTGCGGGC	0.493									Immune Deficiency with Hyper-IgM				33	168					0	0	0	0	C	135741436	A	C	135741436	3	2	29	1	0	0	0	0	1	0	0	0	3045	40	2	5	666	5	CD40LG	23	135741436	Missense_Mutation	SNP	A	TCGA-BA-A6DD-01A-12D-A31L-08		135741436	19529124	74	5953											
SLC45A1	50651	broad.mit.edu	37	chr1	8384648	8384648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagaggtccttccgggagCtgcttttcaacggctgcatt	6	11	11	13	2	1	1	1	0	0	1	3	2	3	2	3	3	4	4	3	3	1	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:8384648C>A	ENST00000471889.1	+	2	644	c.259C>A	c.(259-261)Ctg>Atg	p.L87M	SLC45A1_ENST00000377479.2_Missense_Mutation_p.L121M|SLC45A1_ENST00000289877.8_Missense_Mutation_p.L87M			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	87					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCGGGAGCTGCTTTTCAA	0.652													5	35					5.18039e-06	5.45146e-06	1	0	A	8384648	C	A	8384648	3	1	30	1	0	0	0	0	1	0	0	0	14728	796	28	4	261	4	SLC45A1	1	8384648	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08		8384648	240865973	1	5954											
EIF4G3	8672	broad.mit.edu	37	chr1	21268820	21268820	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatctggttttggcttcTcctctggggaaaaaaaaata	11	13	10	7	0	3	0	0	0	3	0	4	2	3	2	1	5	0	2	1	5	5	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:21268820T>A	ENST00000602326.1	-	12	1260	c.677A>T	c.(676-678)gAg>gTg	p.E226V	EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E226V|EIF4G3_ENST00000356916.3_Missense_Mutation_p.E231V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.E220V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E220V|EIF4G3_ENST00000374927.4_Missense_Mutation_p.E220V	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	220					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTTTGGCTTCTCCTCTGGGGA	0.408													79	67					0	0	0	0	A	21268820	T	A	21268820	3	1	30	1	0	0	0	0	1	0	0	0	5076	1551	54	5	4194	5	EIF4G3	1	21268820	Missense_Mutation	SNP	T	TCGA-BA-A6DE-01A-22D-A31L-08	12884172	21268820	227981801	2	5955											
BSDC1	55108	broad.mit.edu	37	chr1	32841954	32841954	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgcctcctccctcagagtCtctactctggctggaggcct	4	10	11	16	1	3	1	1	0	2	1	6	2	5	2	4	4	1	1	4	4	1	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:32841954C>T	ENST00000341071.7	-	9	1127	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E	BSDC1_ENST00000449308.1_Silent_p.E355E|BSDC1_ENST00000526031.1_Silent_p.E260E|BSDC1_ENST00000419121.2_Silent_p.E299E|BSDC1_ENST00000446293.2_Silent_p.E372E|BSDC1_ENST00000413080.1_Silent_p.E294E|BSDC1_ENST00000455895.2_Silent_p.E355E			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	355							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCCTCAGAGTCTCTACTCTGG	0.592													51	170					0	0	0	0	T	32841954	C	T	32841954	2	4	30	1	0	0	0	0	0	0	0	1	1536	912	32	2		2	BSDC1	1	32841954	Silent	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	11573134	32841954	216408667	3	5956											
B4GALT2	8704	broad.mit.edu	37	chr1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-																															atgccctccacccagctgctAgcagcagcagcagcagcagc																								rs72406230		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)del	p.S65del	B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685													7	124	---	---	---	---					-	44447009	AGC	-	44447007	7	5	30	1	0	1	0	1	0	0	0	0	1275	420	15	0	177	0	B4GALT2	1	44447007	In_Frame_Del	DEL	AGC	TCGA-BA-A6DE-01A-22D-A31L-08	11605053	44447007	204803614	4	5957											
OSBPL9	114883	broad.mit.edu	37	chr1	52211292	52211292	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttacctacaaatcttgattGaacaattaaaggtatggcat	15	13	6	7	0	1	2	0	2	1	0	1	2	1	2	1	2	3	2	1	2	8	6			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:52211292G>C	ENST00000371710.3	+	5	639	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q	OSBPL9_ENST00000486942.1_Intron|OSBPL9_ENST00000447887.1_Missense_Mutation_p.E158Q|OSBPL9_ENST00000531828.1_5'UTR|OSBPL9_ENST00000428468.1_Missense_Mutation_p.E135Q|OSBPL9_ENST00000361556.5_Missense_Mutation_p.E38Q|OSBPL9_ENST00000462759.1_5'UTR|OSBPL9_ENST00000453295.1_Missense_Mutation_p.E118Q|OSBPL9_ENST00000530544.1_Missense_Mutation_p.E67Q|OSBPL9_ENST00000371714.1_Missense_Mutation_p.E135Q|OSBPL9_ENST00000337809.4_Missense_Mutation_p.E153Q|OSBPL9_ENST00000473207.2_3'UTR|OSBPL9_ENST00000435686.2_5'UTR	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	135					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AATCTTGATTGAACAATTAAA	0.289													4	13					0	0	0	0	C	52211292	G	C	52211292	3	2	30	1	0	0	0	0	1	0	0	0	11355	1291	45	2	525	2	OSBPL9	1	52211292	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	7764285	52211292	197039329	5	5958											
DAB1	1600	broad.mit.edu	37	chr1	57480679	57480679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtaactggagaaggcctCtgaggtacaggtgagggagg	12	6	18	5	0	1	3	0	2	1	1	1	6	1	4	1	6	2	2	1	6	4	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:57480679C>T	ENST00000371236.2	-	12	1584	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	DAB1_ENST00000439789.2_Missense_Mutation_p.E355K|DAB1_ENST00000420954.2_Missense_Mutation_p.E439K|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.E474K|DAB1_ENST00000414851.2_Missense_Mutation_p.E423K|DAB1_ENST00000371234.4_Missense_Mutation_p.E441K			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	474					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GAGAAGGCCTCTGAGGTACAG	0.542													18	43					0	0	0	0	T	57480679	C	T	57480679	3	4	30	1	0	0	0	0	1	0	0	0	4250	922	32	2	358	2	DAB1	1	57480679	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	5269387	57480679	191769942	6	5959											
DPYD	1806	broad.mit.edu	37	chr1	97770841	97770841	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctccatatgtagttcgcTttgcaatccccactgctggc	6	13	7	15	1	0	0	0	0	0	0	4	0	3	0	4	1	2	5	4	1	3	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:97770841T>C	ENST00000370192.3	-	18	2373	c.2273A>G	c.(2272-2274)aAg>aGg	p.K758R	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	758					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGTAGTTCGCTTTGCAATCCC	0.488													50	37					0	0	0	0	C	97770841	T	C	97770841	3	2	30	1	0	0	0	0	1	0	0	0	4781	1609	56	5	828	5	DPYD	1	97770841	Missense_Mutation	SNP	T	TCGA-BA-A6DE-01A-22D-A31L-08	40290162	97770841	151479780	7	5960											
CD1E	913	broad.mit.edu	37	chr1	158323796	158323796	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaatgctgctcctgttcctCctcttcgagggtctctgctg	3	15	9	14	1	3	0	1	0	2	0	8	1	6	0	3	1	3	4	3	1	1	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:158323796C>T	ENST00000444681.2	+	1	311	c.18C>T	c.(16-18)ctC>ctT	p.L6L	CD1E_ENST00000368155.3_Silent_p.L6L|CD1E_ENST00000368164.3_Silent_p.L6L|CD1E_ENST00000368163.3_Silent_p.L6L|CD1E_ENST00000368154.1_Silent_p.L6L|CD1E_ENST00000368167.3_Silent_p.L6L|CD1E_ENST00000368160.3_Silent_p.L6L|CD1E_ENST00000368157.1_Silent_p.L6L|CD1E_ENST00000368161.3_Silent_p.L6L|CD1E_ENST00000368165.3_Silent_p.L6L|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000452291.2_Silent_p.L6L|CD1E_ENST00000368166.3_Silent_p.L6L|CD1E_ENST00000368156.1_Silent_p.L6L	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	6					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCCTGTTCCTCCTCTTCGAGG	0.517													22	35					0	0	0	0	T	158323796	C	T	158323796	2	4	30	1	0	0	0	0	0	0	0	1	3007	842	30	2		2	CD1E	1	158323796	Silent	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	60552955	158323796	90926825	8	5961											
SELE	6401	broad.mit.edu	37	chr1	169702093	169702093	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcataagtcatagcttcCgtggaggtgttgtaagacca	11	12	10	8	1	3	1	3	0	0	1	4	2	4	2	2	2	1	3	2	2	3	5			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:169702093C>T	ENST00000333360.7	-	3	223	c.84G>A	c.(82-84)acG>acA	p.T28T	SELE_ENST00000367780.4_Silent_p.T28T|SELE_ENST00000367781.4_Silent_p.T28T|SELE_ENST00000367777.1_Silent_p.T28T|SELE_ENST00000367776.1_Silent_p.T28T|SELE_ENST00000367779.4_Silent_p.T28T|SELE_ENST00000367775.1_Silent_p.T28T|SELE_ENST00000367774.1_Silent_p.T28T|SELE_ENST00000367782.4_Silent_p.T28T|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	28	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCATAGCTTCCGTGGAGGTGT	0.418													25	58					0	0	0	0	T	169702093	C	T	169702093	2	4	30	1	0	0	0	0	0	0	0	1	14100	639	23	1		1	SELE	1	169702093	Silent	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	11378297	169702093	79548528	9	5962											
ANKRD45	339416	broad.mit.edu	37	chr1	173616137	173616137	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccaggctgcagcacaaTgtaagagtgtgtaccctaac	12	7	10	12	0	0	1	0	0	0	1	0	2	0	1	3	1	4	5	3	1	4	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:173616137T>C	ENST00000333279.2	-	3	404	c.344A>G	c.(343-345)cAt>cGt	p.H115R		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	131										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TGCAGCACAATGTAAGAGTGT	0.413													26	53					0	0	0	0	C	173616137	T	C	173616137	3	2	30	1	0	0	0	0	1	0	0	0	672	1464	51	5	472	5	ANKRD45	1	173616137	Missense_Mutation	SNP	T	TCGA-BA-A6DE-01A-22D-A31L-08	3914044	173616137	75634484	10	5963											
PAPPA2	60676	broad.mit.edu	37	chr1	176738779	176738779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgttcttctgggcactggGaccagaatgtgagctgcctt	7	12	12	10	0	2	2	0	1	2	1	2	3	2	3	2	2	2	3	2	2	1	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:176738779G>T	ENST00000367662.3	+	16	5524	c.4360G>T	c.(4360-4362)Gac>Tac	p.D1454Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1454	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGGCACTGGGACCAGAATGT	0.473													29	66					1.68575e-08	1.82708e-08	1	0	T	176738779	G	T	176738779	3	4	30	1	0	0	0	0	1	0	0	0	11504	1174	41	2	4471	2	PAPPA2	1	176738779	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	3122642	176738779	72511842	11	5964											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179886985	179886985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaagctactcaagacagtGatactgtcaaactagaggta	17	9	8	7	0	2	3	2	1	0	2	2	3	2	3	0	1	4	2	0	1	8	5			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:179886985G>A	ENST00000435319.3	+	10	1554	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N	TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.D471N	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	455						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						TCAAGACAGTGATACTGTCAA	0.458													29	62					0	0	0	0	A	179886985	G	A	179886985	3	1	30	1	0	0	0	0	1	0	0	0	16467	1290	45	2	1401	2	TOR1AIP1	1	179886985	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	3148206	179886985	69363636	12	5965											
PPFIA4	8497	broad.mit.edu	37	chr1	203014590	203014591	+	Frame_Shift_Ins	INS	-	-	A																															cgactggtcaccctaacaacINSaaccgtgactgaactcgagg																										TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:203014590_203014591insA	ENST00000367240.2	+	7	1288_1289	c.761_762insA	c.(760-762)aacfs	p.N254fs	PPFIA4_ENST00000447715.2_Frame_Shift_Ins_p.N254fs|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	171					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACCCTAACAACAACCGTGACTG	0.639													10	26	---	---	---	---					A	203014591	-	A	203014590	7	5	30	1	0	1	1	0	0	0	0	0	12383	493	17	0		0	PPFIA4	1	203014590	Frame_Shift_Ins	INS	-	TCGA-BA-A6DE-01A-22D-A31L-08	23127605	203014590	46236031	13	5966											
SLC45A3	85414	broad.mit.edu	37	chr1	205633661	205633661	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacccccacttccagcagcaGaggcggcacataggtgatgc	10	6	11	14	1	0	2	0	1	0	1	1	2	1	2	3	3	4	3	3	3	2	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:205633661G>A	ENST00000367145.3	-	2	419	c.124C>T	c.(124-126)Ctg>Ttg	p.L42L		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	42					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCAGCAGCAGAGGCGGCACA	0.587			T	"ETV1, ETV5, ELK4, ERG"	prostate								55	135					0	0	0	0	A	205633661	G	A	205633661	2	1	30	1	0	0	0	0	0	0	0	1	14730	933	33	2		2	SLC45A3	1	205633661	Silent	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	2619071	205633661	43616960	14	5967											
KCNK2	3776	broad.mit.edu	37	chr1	215345397	215345397	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacaatcatatttatactaTttggctgtgtactctttgtg	10	18	6	7	0	2	0	1	0	1	0	2	0	2	0	0	1	3	2	0	1	7	8			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:215345397T>C	ENST00000444842.2	+	5	844	c.694T>C	c.(694-696)Ttt>Ctt	p.F232L	KCNK2_ENST00000391894.2_Missense_Mutation_p.F217L|KCNK2_ENST00000391895.2_Missense_Mutation_p.F228L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	232							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ATTTATACTATTTGGCTGTGT	0.393													28	47					0	0	0	0	C	215345397	T	C	215345397	3	2	30	1	0	0	0	0	1	0	0	0	8119	1493	52	5	755	5	KCNK2	1	215345397	Missense_Mutation	SNP	T	TCGA-BA-A6DE-01A-22D-A31L-08	9711736	215345397	33905224	15	5968											
OBSCN	84033	broad.mit.edu	37	chr1	228400227	228400227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccggcacgcgcacctgcaCggtgactgaaggcaagcacg	10	3	13	15	5	0	2	0	2	0	0	0	2	0	2	2	3	2	5	2	3	2	0			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:228400227C>T	ENST00000570156.2	+	2	817	c.743C>T	c.(742-744)aCg>aTg	p.T248M	OBSCN_ENST00000284548.11_Missense_Mutation_p.T248M|OBSCN_ENST00000422127.1_Missense_Mutation_p.T248M|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	248	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGCACCTGCACGGTGACTGAA	0.741													17	40					0	0	0	0	T	228400227	C	T	228400227	3	4	30	1	0	0	0	0	1	0	0	0	10883	536	19	1	745	1	OBSCN	1	228400227	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	13054830	228400227	20850394	16	5969											
OBSCN	84033	broad.mit.edu	37	chr1	228461719	228461719	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagctgccgtgtgggcgcaGaggggcaggacttcccagtg	7	6	17	11	2	0	1	0	0	0	1	1	2	1	2	2	4	2	3	2	4	0	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:228461719G>C	ENST00000570156.2	+	22	6585	c.6511G>C	c.(6511-6513)Gag>Cag	p.E2171Q	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.E643Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1796Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.E1796Q|RP5-1139B12.2_ENST00000602517.1_RNA	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1151	Ig-like 22.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTGGGCGCAGAGGGGCAGGA	0.682													13	40					0	0	0	0	C	228461719	G	C	228461719	3	2	30	1	0	0	0	0	1	0	0	0	10883	943	33	2	5452	2	OBSCN	1	228461719	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	61492	228461719	20788902	17	5970											
LBH	81606	broad.mit.edu	37	chr2	30457289	30457289	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccccgactatctgagatcGgccaagatgactgaggtgat	11	8	12	10	2	1	5	0	4	1	2	2	7	1	5	3	2	1	0	3	2	2	1	rs141295319	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:30457289G>C	ENST00000395323.3	+	2	253	c.45G>C	c.(43-45)tcG>tcC	p.S15S	LBH_ENST00000404397.1_Silent_p.S15S|LBH_ENST00000406087.1_Silent_p.S15S|LBH_ENST00000401506.1_Silent_p.S21S|LBH_ENST00000407930.2_5'UTR|LBH_ENST00000467242.1_3'UTR	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	15					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					ATCTGAGATCGGCCAAGATGA	0.537													8	74					0	0	0	0	C	30457289	G	C	30457289	2	2	30	1	0	0	0	0	0	0	0	1	8703	1103	39	3		3	LBH	2	30457289	Silent	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08		30457289	212742084	18	5971											
RASGRP3	25780	broad.mit.edu	37	chr2	33783279	33783279	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccttggaatttttcagaCtgtggagccaattgtcacaa	11	12	8	10	0	2	1	2	0	0	1	2	3	2	3	2	2	1	0	2	2	3	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:33783279C>G	ENST00000403687.3	+	16	2321	c.1579_splice	c.e16-1	p.D527_splice	RASGRP3_ENST00000407811.1_Splice_Site_p.D526_splice|RASGRP3_ENST00000402538.3_Splice_Site_p.D527_splice|AC020594.5_ENST00000437680.1_RNA	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	527					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATTTTTCAGACTGTGGAGCCA	0.547													8	7					0	0	0	0	G	33783279	C	G	33783279	5	3	30	1	0	0	0	0	0	0	1	0	13158	579	20	4	1635	4	RASGRP3	2	33783279	Splice_Site	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	3325990	33783279	209416094	19	5972											
FSHR	2492	broad.mit.edu	37	chr2	49191037	49191037	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagaggatctctgacccCtagcctgagtcatataatca	12	9	8	12	0	3	3	2	2	1	1	4	5	3	4	4	1	1	0	4	1	3	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:49191037C>A	ENST00000406846.2	-	10	1042	c.923G>T	c.(922-924)aGg>aTg	p.R308M	FSHR_ENST00000304421.4_Missense_Mutation_p.R282M|FSHR_ENST00000346173.3_Missense_Mutation_p.R246M|FSHR_ENST00000541117.1_Missense_Mutation_p.R44M	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	308					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCTCTGACCCCTAGCCTGAGT	0.388									Gonadal Dysgenesis, 46 XX				29	89					1.39649e-27	1.70787e-27	1	0	A	49191037	C	A	49191037	3	1	30	1	0	0	0	0	1	0	0	0	6121	681	24	4	1168	4	FSHR	2	49191037	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	15407758	49191037	194008336	20	5973											
ALMS1	7840	broad.mit.edu	37	chr2	73717189	73717189	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattttcattcttcatcacaAatgccgtccccagaacccat	11	12	4	14	1	4	1	3	0	1	1	5	2	5	1	4	0	2	0	4	0	2	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:73717189A>G	ENST00000264448.6	+	10	8211	c.8100A>G	c.(8098-8100)caA>caG	p.Q2700Q	ALMS1_ENST00000409009.1_Silent_p.Q2658Q	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2700					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTTCATCACAAATGCCGTCCC	0.408													54	131					0	0	0	0	G	73717189	A	G	73717189	2	3	30	1	0	0	0	0	0	0	0	1	535	11	1	5		5	ALMS1	2	73717189	Silent	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08	24526152	73717189	169482184	21	5974											
NCAPH	23397	broad.mit.edu	37	chr2	97025968	97025968	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgatattgactttgatgTatattttagaaaaacaaagg	17	14	8	2	0	0	5	0	3	0	2	0	5	0	5	0	1	1	1	0	1	7	7			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:97025968T>C	ENST00000455200.1	+	11	1707	c.1412T>C	c.(1411-1413)gTa>gCa	p.V471A	NCAPH_ENST00000240423.4_Missense_Mutation_p.V482A|NCAPH_ENST00000427946.1_Missense_Mutation_p.V346A			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	482					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GACTTTGATGTATATTTTAGA	0.289													12	31					0	0	0	0	C	97025968	T	C	97025968	3	2	30	1	0	0	0	0	1	0	0	0	10279	1638	57	5	1487	5	NCAPH	2	97025968	Missense_Mutation	SNP	T	TCGA-BA-A6DE-01A-22D-A31L-08	23308779	97025968	146173405	22	5975											
TMEM87B	84910	broad.mit.edu	37	chr2	112863615	112863615	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagagcctcaaaatcagtttCcaatggaacagctaagcctg	15	8	8	10	0	2	1	2	0	0	1	3	2	3	2	3	1	4	2	3	1	6	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:112863615C>G	ENST00000283206.4	+	16	1856	c.1487C>G	c.(1486-1488)tCc>tGc	p.S496C		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	496						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						AAATCAGTTTCCAATGGAACA	0.313													80	150					0	0	0	0	G	112863615	C	G	112863615	3	3	30	1	0	0	0	0	1	0	0	0	16305	855	30	2	1549	2	TMEM87B	2	112863615	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	15837647	112863615	130335758	23	5976											
IL1B	3553	broad.mit.edu	37	chr2	113590982	113590982	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaagggaaagaaggtgctCaggtcattctcctggaaggt	12	9	14	6	0	3	2	2	1	1	1	4	4	3	4	1	5	1	1	1	5	4	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:113590982C>G	ENST00000263341.2	-	4	480	c.270G>C	c.(268-270)ctG>ctC	p.L90L	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	90					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	AGAAGGTGCTCAGGTCATTCT	0.537													32	89					0	0	0	0	G	113590982	C	G	113590982	2	3	30	1	0	0	0	0	0	0	0	1	7704	813	29	2		2	IL1B	2	113590982	Silent	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	727367	113590982	129608391	24	5977											
GLI2	2736	broad.mit.edu	37	chr2	121732644	121732644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccaactgccactgggaaGactgcaccaaggagtacgac	14	4	11	12	1	0	2	0	0	0	2	0	5	0	4	3	2	4	2	3	2	4	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:121732644G>T	ENST00000452319.1	+	9	1387	c.1327G>T	c.(1327-1329)Gac>Tac	p.D443Y	GLI2_ENST00000361492.4_Missense_Mutation_p.D443Y|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.D115Y			P10070	GLI2_HUMAN	GLI family zinc finger 2	443					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)				CCACTGGGAAGACTGCACCAA	0.597													21	63					1.40151e-16	1.61575e-16	1	0	T	121732644	G	T	121732644	3	4	30	1	0	0	0	0	1	0	0	0	6489	942	33	2	1357	2	GLI2	2	121732644	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	8141662	121732644	121466729	25	5978											
ZC3H15	55854	broad.mit.edu	37	chr2	187370222	187370222	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaaaatcactctagaatcTtttcttgcctggaagaaaag	15	11	6	9	0	4	2	1	0	3	2	4	3	4	3	2	1	1	0	2	1	7	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:187370222T>A	ENST00000337859.6	+	7	989	c.762T>A	c.(760-762)tcT>tcA	p.S254S	ZC3H15_ENST00000544130.1_Silent_p.S49S	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	254	Required for interaction with DRG1 (By similarity).					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CTCTAGAATCTTTTCTTGCCT	0.368													22	35					0	0	0	0	A	187370222	T	A	187370222	2	1	30	1	0	0	0	0	0	0	0	1	17662	1596	56	5		5	ZC3H15	2	187370222	Silent	SNP	T	TCGA-BA-A6DE-01A-22D-A31L-08	65637578	187370222	55829151	26	5979											
GPR35	2859	broad.mit.edu	37	chr2	241569681	241569681	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaacaggtacatgagcatCagcctggtcacggccatcgc	11	6	10	14	2	2	1	2	1	0	0	3	1	2	1	3	3	4	2	3	3	2	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:241569681C>T	ENST00000319838.5	+	6	1254	c.312C>T	c.(310-312)atC>atT	p.I104I	GPR35_ENST00000403859.1_Silent_p.I104I|GPR35_ENST00000438013.2_Silent_p.I135I|GPR35_ENST00000430267.1_Silent_p.I104I|GPR35_ENST00000407714.1_Silent_p.I104I	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	104						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACATGAGCATCAGCCTGGTCA	0.692													21	18					0	0	0	0	T	241569681	C	T	241569681	2	4	30	1	0	0	0	0	0	0	0	1	6739	816	29	2		2	GPR35	2	241569681	Silent	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	54199459	241569681	1629692	27	5980											
SCAP	22937	broad.mit.edu	37	chr3	47484397	47484397	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaccctgtgaagaggatGatggggatgggataggatgc	12	7	17	5	0	0	4	0	2	0	2	0	8	0	8	1	5	2	0	1	5	3	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr3:47484397G>T	ENST00000265565.5	-	2	499	c.87C>A	c.(85-87)atC>atA	p.I29I	SCAP_ENST00000441517.2_5'UTR|SCAP_ENST00000545718.1_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	29					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	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi 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)		TGAAGAGGATGATGGGGATGG	0.517													13	19					2.32078e-09	2.53049e-09	1	0	T	47484397	G	T	47484397	2	4	30	1	0	0	0	0	0	0	0	1	13963	1280	45	2		2	SCAP	3	47484397	Silent	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08		47484397	150538033	28	5981											
IQCB1	9657	broad.mit.edu	37	chr3	121491509	121491509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtagtgttgcagtcgttCttgagcttgggcatggagct	8	13	14	6	1	1	1	0	1	1	0	2	2	1	2	0	2	3	7	0	2	2	5			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr3:121491509C>T	ENST00000310864.6	-	14	1676	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	IQCB1_ENST00000349820.6_Missense_Mutation_p.E355K	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	488					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TGCAGTCGTTCTTGAGCTTGG	0.517													41	94					0	0	0	0	T	121491509	C	T	121491509	3	4	30	1	0	0	0	0	1	0	0	0	7856	922	32	2	342	2	IQCB1	3	121491509	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	74007112	121491509	76530921	29	5982											
CASR	846	broad.mit.edu	37	chr3	122003178	122003178	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttcttctttgccttcAagtcccggaagctgccggag	5	13	10	13	2	4	0	1	0	3	0	5	2	5	2	3	2	4	2	3	2	2	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr3:122003178A>G	ENST00000498619.1	+	7	2845	c.2407A>G	c.(2407-2409)Aag>Gag	p.K803E	CASR_ENST00000296154.5_Missense_Mutation_p.K793E|CASR_ENST00000490131.1_Missense_Mutation_p.K793E	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	793					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTTGCCTTCAAGTCCCGGAA	0.542													17	30					0	0	0	0	G	122003178	A	G	122003178	3	3	30	1	0	0	0	0	1	0	0	0	2707	131	5	5	2429	5	CASR	3	122003178	Missense_Mutation	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08	511669	122003178	76019252	30	5983											
PPP2R3A	5523	broad.mit.edu	37	chr3	135741933	135741933	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgatcaaggaaacatctCtacgaagggacccggattta	14	9	10	8	2	2	2	1	2	1	0	3	6	2	5	1	3	2	0	1	3	5	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr3:135741933C>G	ENST00000334546.2	+	1	357	c.22C>G	c.(22-24)Cta>Gta	p.L8V	PPP2R3A_ENST00000264977.3_Intron|PPP2R3A_ENST00000490467.1_Intron	NM_181897.2	NP_871626.1	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	0					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAAACATCTCTACGAAGGGA	0.428													28	52					0	0	0	0	G	135741933	C	G	135741933	3	3	30	1	0	0	0	0	1	0	0	0	12464	912	32	2	2023	2	PPP2R3A	3	135741933	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	13738755	135741933	62280497	31	5984											
IGSF10	285313	broad.mit.edu	37	chr3	151161641	151161641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggggagaacctggaccctGctattctgtttcctcttaga	7	14	10	10	0	2	2	0	0	2	2	3	4	3	3	3	3	2	2	3	3	3	5			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr3:151161641G>T	ENST00000282466.3	-	5	5093	c.5094C>A	c.(5092-5094)agC>agA	p.S1698R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1698	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGGACCCTGCTATTCTGTT	0.428													14	39					0.000308642	0.000313844	1	0	T	151161641	G	T	151161641	3	4	30	1	0	0	0	0	1	0	0	0	7650	1310	46	4	2833	4	IGSF10	3	151161641	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	15419708	151161641	46860789	32	5985											
KNG1	3827	broad.mit.edu	37	chr3	186459915	186459915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactatgatgcctcctatatCaccagctcccatacagagtg	12	10	6	13	0	1	2	1	1	0	1	3	2	3	2	4	0	4	1	4	0	5	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr3:186459915C>T	ENST00000265023.4	+	10	1942	c.1730C>T	c.(1729-1731)tCa>tTa	p.S577L	RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000447445.1_Intron|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	577					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CCTCCTATATCACCAGCTCCC	0.468													94	50					0	0	0	0	T	186459915	C	T	186459915	3	4	30	1	0	0	0	0	1	0	0	0	8479	838	29	2	1768	2	KNG1	3	186459915	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	35298274	186459915	11562515	33	5986											
SPON2	10417	broad.mit.edu	37	chr4	1164230	1164230	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcattgtccctgctgggcagGactggggcgggagggatgaa	7	8	18	8	1	1	1	1	1	0	0	2	4	2	4	1	6	1	2	1	6	1	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr4:1164230G>T	ENST00000290902.5	-	5	1103	c.771C>A	c.(769-771)gtC>gtA	p.V257V	SPON2_ENST00000431380.1_Silent_p.V257V	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	257					axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TGCTGGGCAGGACTGGGGCGG	0.647													56	183					2.08403e-16	2.3874e-16	1	0	T	1164230	G	T	1164230	2	4	30	1	0	0	0	0	0	0	0	1	15173	1161	41	2		2	SPON2	4	1164230	Silent	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08		1164230	189990046	34	5987											
UGT2B28	54490	broad.mit.edu	37	chr4	70160521	70160521	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggaagaagggaaaaagAgattagttatgtctgacatt	18	9	12	2	0	1	3	0	1	1	2	1	6	1	5	0	2	0	1	0	2	7	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr4:70160521A>G	ENST00000335568.5	+	6	1586	c.1584A>G	c.(1582-1584)agA>agG	p.R528R	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	528					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AGGGAAAAAGAGATTAGTTAT	0.378													37	77					0	0	0	0	G	70160521	A	G	70160521	2	3	30	1	0	0	0	0	0	0	0	1	17056	301	11	5		5	UGT2B28	4	70160521	Silent	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08	68996291	70160521	120993755	35	5988											
BMP2K	55589	broad.mit.edu	37	chr4	79793771	79793771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcatttcttttttcagatgCcgcagtatcagcaggctttc	8	16	7	10	1	4	1	3	0	1	1	5	1	4	1	1	1	2	4	1	1	1	6			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr4:79793771C>T	ENST00000335016.5	+	13	1778	c.1612C>T	c.(1612-1614)Ccg>Tcg	p.P538S	BMP2K_ENST00000502871.1_Missense_Mutation_p.P538S	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	538	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TTTTCAGATGCCGCAGTATCA	0.423													14	24					0	0	0	0	T	79793771	C	T	79793771	3	4	30	1	0	0	0	0	1	0	0	0	1465	739	26	4	1662	4	BMP2K	4	79793771	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	9633250	79793771	111360505	36	5989											
KIAA0947	23379	broad.mit.edu	37	chr5	5469087	5469087	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaactgcttgagagcttttCttaattgggaaaaggtgagc	11	13	12	5	0	1	3	0	3	1	1	1	5	1	4	0	2	4	2	0	2	4	5			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:5469087C>G	ENST00000296564.7	+	15	6430	c.6208C>G	c.(6208-6210)Ctt>Gtt	p.L2070V		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2070										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGAGCTTTTCTTAATTGGGA	0.318													44	104					0	0	0	0	G	5469087	C	G	5469087	3	3	30	1	0	0	0	0	1	0	0	0	8253	913	32	2	6266	2	KIAA0947	5	5469087	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08		5469087	175446173	37	5990											
DNAJC21	134218	broad.mit.edu	37	chr5	34937698	34937698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagaaggcgaggaaagccGaagagatgaggcggcagcag	15	1	18	7	3	0	3	0	1	0	2	0	8	0	4	1	4	2	2	1	4	3	0			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:34937698G>A	ENST00000382021.2	+	5	933	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	DNAJC21_ENST00000303525.7_Missense_Mutation_p.E236K|DNAJC21_ENST00000342382.4_Missense_Mutation_p.E236K	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	236	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GAGGAAAGCCGAAGAGATGAG	0.542													38	86					0	0	0	0	A	34937698	G	A	34937698	3	1	30	1	0	0	0	0	1	0	0	0	4676	1059	37	1	724	1	DNAJC21	5	34937698	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	29468611	34937698	145977562	38	5991											
LYSMD3	116068	broad.mit.edu	37	chr5	89814775	89814775	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgggggtgtgatttttGaatgtaaatgtgaagagtcc	10	14	15	2	0	0	5	0	4	0	1	1	5	1	5	1	2	0	1	1	2	4	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:89814775G>T	ENST00000315948.6	-	3	926	c.782C>A	c.(781-783)tCa>tAa	p.S261*	LYSMD3_ENST00000500869.2_Missense_Mutation_p.Q103K|LYSMD3_ENST00000509384.1_3'UTR	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	261					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TGTGATTTTTGAATGTAAATG	0.343													27	36					2.41591e-17	2.80308e-17	1	0	T	89814775	G	T	89814775	4	4	30	1	0	0	0	0	0	1	0	0	9191	1294	45	2	142	2	LYSMD3	5	89814775	Nonsense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	54877077	89814775	91100485	39	5992											
GPR98	84059	broad.mit.edu	37	chr5	89981640	89981640	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctaaggtagaaactattgcGcaactaattatcattgccaa	15	11	6	9	1	1	1	1	0	0	1	1	1	1	1	2	1	4	2	2	1	8	7			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:89981640G>A	ENST00000405460.2	+	29	6414	c.6318G>A	c.(6316-6318)gcG>gcA	p.A2106A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2106					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.A2106A(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAACTATTGCGCAACTAATTA	0.413													16	16					0	0	0	0	A	89981640	G	A	89981640	2	1	30	1	0	0	0	0	0	0	0	1	6771	1074	38	1		1	GPR98	5	89981640	Silent	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	166865	89981640	90933620	40	5993											
SH3RF2	153769	broad.mit.edu	37	chr5	145442148	145442148	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgtcctatttgcccacCgaagtggctgccactccgga	7	9	10	15	3	0	1	0	1	0	0	2	3	2	2	6	2	2	1	6	2	2	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:145442148C>T	ENST00000511217.1	+	9	2126	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Nonsense_Mutation_p.R692*			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	692							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTGCCCACCGAAGTGGCTG	0.627													22	30					0	0	0	0	T	145442148	C	T	145442148	4	4	30	1	0	0	0	0	0	1	0	0	14347	644	23	1	2108	1	SH3RF2	5	145442148	Nonsense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	55460508	145442148	35473112	41	5994											
G3BP1	10146	broad.mit.edu	37	chr5	151179907	151179907	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcttaaagatttctttcaaAgtaggttattgagttttgaa	13	17	8	3	0	2	3	1	2	1	1	2	3	2	3	0	1	1	4	0	1	6	8			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:151179907A>G	ENST00000394123.3	+	10	1229	c.1084_splice	c.e10+1	p.S362_splice	G3BP1_ENST00000356245.3_Splice_Site_p.S362_splice|G3BP1_ENST00000543466.1_Splice_Site_p.S180_splice			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	362	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TTTCTTTCAAAGTAGGTTATT	0.383													13	13					0	0	0	0	G	151179907	A	G	151179907	5	3	30	1	0	0	0	0	0	0	1	0	6189	86	3	5	1118	5	G3BP1	5	151179907	Splice_Site	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08	5737759	151179907	29735353	42	5995											
GLRA1	2741	broad.mit.edu	37	chr5	151208547	151208547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgagacacaaagttaaCggcagcatattctaataggg	14	9	10	8	2	1	1	0	0	1	1	1	2	1	1	1	2	3	3	1	2	5	6			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:151208547C>T	ENST00000274576.4	-	8	1286	c.994G>A	c.(994-996)Gtt>Att	p.V332I	GLRA1_ENST00000455880.2_Missense_Mutation_p.V332I|GLRA1_ENST00000545569.1_Missense_Mutation_p.V249I	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	332					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACAAAGTTAACGGCAGCATAT	0.512													53	65					0	0	0	0	T	151208547	C	T	151208547	3	4	30	1	0	0	0	0	1	0	0	0	6505	536	19	1	387	1	GLRA1	5	151208547	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	28640	151208547	29706713	43	5996											
NSD1	64324	broad.mit.edu	37	chr5	176678812	176678812	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgccttggattgactGagatgccaagaggaaaattt	12	11	13	5	0	0	3	0	2	0	2	0	7	0	6	2	3	2	0	2	3	3	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:176678812G>T	ENST00000439151.2	+	12	4768	c.4723G>T	c.(4723-4725)Gag>Tag	p.E1575*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1306*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1472*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1306*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1575					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGGATTGACTGAGATGCCAAG	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			20	22					2.32416e-17	2.73164e-17	1	0	T	176678812	G	T	176678812	4	4	30	1	0	0	0	0	0	1	0	0	10740	1291	45	2	4765	2	NSD1	5	176678812	Nonsense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	25470265	176678812	4236448	44	5997											
SERPINB1	1992	broad.mit.edu	37	chr6	2836370	2836370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgaatggtgcattcgtcGtggcttctttcatgaattta	8	17	9	7	2	3	2	1	2	2	0	5	2	3	2	0	2	1	2	0	2	3	5			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:2836370G>C	ENST00000380739.5	-	5	741	c.539C>G	c.(538-540)aCg>aGg	p.T180R	SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_Missense_Mutation_p.T29R			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	180					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TGCATTCGTCGTGGCTTCTTT	0.393													28	88					0	0	0	0	C	2836370	G	C	2836370	3	2	30	1	0	0	0	0	1	0	0	0	14183	1145	40	3	612	3	SERPINB1	6	2836370	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08		2836370	168278697	45	5998											
SLC17A3	10786	broad.mit.edu	37	chr6	25849663	25849663	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctatgctcgaaaatcctCttgatgctcccatgagaaaa	12	11	8	10	1	1	2	0	2	1	1	4	4	3	2	2	0	3	3	2	0	5	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:25849663C>G	ENST00000397060.4	-	11	1410	c.1301G>C	c.(1300-1302)aGa>aCa	p.R434T	SLC17A3_ENST00000360657.3_Missense_Mutation_p.R356T|SLC17A3_ENST00000361703.6_Missense_Mutation_p.R356T	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	356					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CGAAAATCCTCTTGATGCTCC	0.443													15	42					0	0	0	0	G	25849663	C	G	25849663	3	3	30	1	0	0	0	0	1	0	0	0	14506	913	32	2	203	2	SLC17A3	6	25849663	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	23013293	25849663	145265404	46	5999											
PXT1	222659	broad.mit.edu	37	chr6	36359653	36359653	+	Splice_Site	DEL	T	T	-																															tgccatcctgttgaagatccTatttgaaaaaagggagacac																										TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:36359653delT	ENST00000454782.2	-	5	784		c.e5-2		RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1							peroxisome											TTGAAGATCCTATTTGAAAAA	0.308													14	74	---	---	---	---					-	36359653	T	-	36359653	8	5	30	1	0	1	0	1	0	0	1	0	12935	1536	53	0	109	0	PXT1	6	36359653	Splice_Site	DEL	T	TCGA-BA-A6DE-01A-22D-A31L-08	10509990	36359653	134755414	47	6000											
MOCS1	4337	broad.mit.edu	37	chr6	39877612	39877612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcttcctgcccacagcagCcccaatgattctcagcagct	8	10	6	17	0	2	1	1	1	2	0	4	1	3	1	4	0	5	3	4	0	1	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:39877612C>T	ENST00000373186.4	-	8	1206	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	MOCS1_ENST00000340692.5_Missense_Mutation_p.A357T|MOCS1_ENST00000373188.2_Missense_Mutation_p.A357T|MOCS1_ENST00000425303.2_Missense_Mutation_p.A357T|MOCS1_ENST00000373195.3_Missense_Mutation_p.A270T|MOCS1_ENST00000308559.7_Missense_Mutation_p.A357T|MOCS1_ENST00000373175.4_Missense_Mutation_p.A328T|MOCS1_ENST00000432280.2_Missense_Mutation_p.A328T	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	357	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCACAGCAGCCCCAATGATT	0.622													18	160					0	0	0	0	T	39877612	C	T	39877612	3	4	30	1	0	0	0	0	1	0	0	0	9760	739	26	4	96	4	MOCS1	6	39877612	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	3517959	39877612	131237455	48	6001											
PTK7	5754	broad.mit.edu	37	chr6	43113017	43113017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagagaccctggtacttgtGaagagcctgcagagcaagga	12	6	14	9	0	0	4	0	1	0	3	0	6	0	5	2	2	4	4	2	2	3	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:43113017G>A	ENST00000230419.4	+	16	2708	c.2487G>A	c.(2485-2487)gtG>gtA	p.V829V	PTK7_ENST00000345201.2_Silent_p.V789V|PTK7_ENST00000481273.1_Silent_p.V837V|PTK7_ENST00000352931.2_Silent_p.V773V|PTK7_ENST00000349241.2_Silent_p.V699V	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	829	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGGTACTTGTGAAGAGCCTGC	0.587													38	80					0	0	0	0	A	43113017	G	A	43113017	2	1	30	1	0	0	0	0	0	0	0	1	12845	1277	45	2		2	PTK7	6	43113017	Silent	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	3235405	43113017	128002050	49	6002											
SUPT3H	8464	broad.mit.edu	37	chr6	44900479	44900479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggcatcgctgtgagcctCaacaccacaggctgcagtgc	9	7	12	13	1	1	1	1	1	0	0	2	2	1	1	2	2	4	4	2	2	1	0			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:44900479C>T	ENST00000371460.1	-	12	1173	c.856G>A	c.(856-858)Gag>Aag	p.E286K	SUPT3H_ENST00000371458.1_Missense_Mutation_p.E58K|SUPT3H_ENST00000371461.2_Missense_Mutation_p.E286K|SUPT3H_ENST00000306867.5_Missense_Mutation_p.E275K|SUPT3H_ENST00000371459.1_Missense_Mutation_p.E275K	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	357					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CTGTGAGCCTCAACACCACAG	0.453													14	26					0	0	0	0	T	44900479	C	T	44900479	3	4	30	1	0	0	0	0	1	0	0	0	15487	835	29	2	138	2	SUPT3H	6	44900479	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	1787462	44900479	126214588	50	6003											
IL17A	3605	broad.mit.edu	37	chr6	52052595	52052595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaccgatccacctcaccttgGaatctccagtacgtaaagct	12	9	6	14	2	2	0	1	0	1	0	4	2	3	1	5	1	3	3	5	1	5	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:52052595G>T	ENST00000340057.1	+	2	267	c.222G>T	c.(220-222)tgG>tgT	p.W74C		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	74					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCTCACCTTGGAATCTCCAGT	0.433													29	73					2.49534e-26	3.03126e-26	1	0	T	52052595	G	T	52052595	3	4	30	1	0	0	0	0	1	0	0	0	7687	1183	41	2	228	2	IL17A	6	52052595	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	7152116	52052595	119062472	51	6004											
DST	667	broad.mit.edu	37	chr6	56458551	56458551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtatcaaccttgccaccGtctctcttgctgcaagattt	9	13	7	12	1	3	1	1	0	2	1	4	2	3	1	3	0	4	3	3	0	4	4	rs74609186	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:56458551G>T	ENST00000370754.5	-	48	12542	c.12543C>A	c.(12541-12543)gaC>gaA	p.D4181E	DST_ENST00000370788.2_Missense_Mutation_p.D1915E|DST_ENST00000361203.3_Missense_Mutation_p.D4001E|DST_ENST00000370769.4_Missense_Mutation_p.D4003E|DST_ENST00000446842.2_Missense_Mutation_p.D3677E|DST_ENST00000312431.6_Missense_Mutation_p.D4001E|DST_ENST00000421834.2_Missense_Mutation_p.D1915E|DST_ENST00000244364.6_Missense_Mutation_p.D1589E			Q03001	DYST_HUMAN	dystonin	4001					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTGCCACCGTCTCTCTTGC	0.443													4	151					0.150653	0.150653	1	0	T	56458551	G	T	56458551	3	4	30	1	0	0	0	0	1	0	0	0	4819	1136	40	3	10972	3	DST	6	56458551	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	4405956	56458551	114656516	52	6005											
DST	667	broad.mit.edu	37	chr6	56458967	56458967	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgatcactgcttggtgctGagagatgatcttctcgtgtt	7	16	11	7	1	3	4	1	3	2	1	4	5	3	4	0	1	2	3	0	1	1	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:56458967G>C	ENST00000370754.5	-	48	12126	c.12127C>G	c.(12127-12129)Cag>Gag	p.Q4043E	DST_ENST00000370788.2_Missense_Mutation_p.Q1777E|DST_ENST00000361203.3_Missense_Mutation_p.Q3863E|DST_ENST00000370769.4_Missense_Mutation_p.Q3865E|DST_ENST00000446842.2_Missense_Mutation_p.Q3539E|DST_ENST00000312431.6_Missense_Mutation_p.Q3863E|DST_ENST00000421834.2_Missense_Mutation_p.Q1777E|DST_ENST00000244364.6_Missense_Mutation_p.Q1451E			Q03001	DYST_HUMAN	dystonin	3863					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTTGGTGCTGAGAGATGATC	0.458													54	119					0	0	0	0	C	56458967	G	C	56458967	3	2	30	1	0	0	0	0	1	0	0	0	4819	1299	45	2	11388	2	DST	6	56458967	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	416	56458967	114656100	53	6006											
IBTK	25998	broad.mit.edu	37	chr6	82910367	82910367	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccatcttctacttccaaaTagctaatatctggtccatct	10	15	3	13	0	4	0	0	0	4	0	7	0	7	0	3	1	2	1	3	1	5	6			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:82910367T>C	ENST00000306270.7	-	20	3398	c.2849A>G	c.(2848-2850)tAt>tGt	p.Y950C	IBTK_ENST00000510291.1_Missense_Mutation_p.Y950C|IBTK_ENST00000503631.1_Missense_Mutation_p.Y749C	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	950					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TACTTCCAAATAGCTAATATC	0.313													7	22					0	0	0	0	C	82910367	T	C	82910367	3	2	30	1	0	0	0	0	1	0	0	0	7529	1406	49	5	1252	5	IBTK	6	82910367	Missense_Mutation	SNP	T	TCGA-BA-A6DE-01A-22D-A31L-08	26451400	82910367	88204700	54	6007											
ZNF292	23036	broad.mit.edu	37	chr6	87968972	87968972	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgactcccacgcctgttaaAtcaactgcagatatcacagt	12	10	6	13	1	2	2	2	1	0	1	3	2	3	2	2	0	2	2	2	0	4	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:87968972A>G	ENST00000369577.3	+	8	5668	c.5625A>G	c.(5623-5625)aaA>aaG	p.K1875K	ZNF292_ENST00000339907.4_Silent_p.K1870K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1875					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CGCCTGTTAAATCAACTGCAG	0.358													24	41					0	0	0	0	G	87968972	A	G	87968972	2	3	30	1	0	0	0	0	0	0	0	1	17921	98	4	5		5	ZNF292	6	87968972	Silent	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08	5058605	87968972	83146095	55	6008											
FAM184A	79632	broad.mit.edu	37	chr6	119297190	119297190	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagctgcatgttgatggttGagttctgagcgcaaggaagc	9	10	15	7	1	1	3	0	3	1	0	1	4	1	4	0	2	4	7	0	2	2	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:119297190G>C	ENST00000338891.7	-	12	2918	c.2475C>G	c.(2473-2475)ctC>ctG	p.L825L	FAM184A_ENST00000368475.4_Silent_p.L705L|FAM184A_ENST00000352896.5_Silent_p.L705L|FAM184A_ENST00000521531.1_Silent_p.L825L|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	825										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTTGATGGTTGAGTTCTGAGC	0.338													19	38					0	0	0	0	C	119297190	G	C	119297190	2	2	30	1	0	0	0	0	0	0	0	1	5553	1277	45	2		2	FAM184A	6	119297190	Silent	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	31328218	119297190	51817877	56	6009											
GRM1	2911	broad.mit.edu	37	chr6	146480578	146480578	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaatctacagcaacgcTggggagaagagctttgaccg	14	6	12	9	2	1	3	0	1	1	2	1	5	1	3	1	2	4	3	1	2	5	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:146480578T>C	ENST00000392299.2	+	3	1265	c.795T>C	c.(793-795)gcT>gcC	p.A265A	GRM1_ENST00000361719.2_Silent_p.A265A|GRM1_ENST00000355289.4_Silent_p.A265A|GRM1_ENST00000492807.2_Silent_p.A265A|GRM1_ENST00000507907.1_Silent_p.A265A|GRM1_ENST00000282753.1_Silent_p.A265A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	265					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACAGCAACGCTGGGGAGAAGA	0.552													22	38					0	0	0	0	C	146480578	T	C	146480578	2	2	30	1	0	0	0	0	0	0	0	1	6846	1567	55	5		5	GRM1	6	146480578	Silent	SNP	T	TCGA-BA-A6DE-01A-22D-A31L-08	27183388	146480578	24634489	57	6010											
ZDHHC4	55146	broad.mit.edu	37	chr7	6621830	6621830	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccttcttctgccctatctGctgctaggtgtaaacctgtt	6	16	7	12	0	3	0	0	0	3	0	3	0	3	0	3	1	5	4	3	1	5	7			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:6621830G>T	ENST00000396706.2	+	5	761	c.318G>T	c.(316-318)ctG>ctT	p.L106L	ZDHHC4_ENST00000396707.2_Silent_p.L106L|ZDHHC4_ENST00000396709.1_Silent_p.L106L|ZDHHC4_ENST00000335965.6_Silent_p.L106L|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Silent_p.L106L|ZDHHC4_ENST00000405731.3_Silent_p.L106L			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	106						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGCCCTATCTGCTGCTAGGTG	0.468													72	248					7.25294e-45	8.99166e-45	1	0	T	6621830	G	T	6621830	2	4	30	1	0	0	0	0	0	0	0	1	17712	1306	46	4		4	ZDHHC4	7	6621830	Silent	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08		6621830	152516833	58	6011											
ADCY1	107	broad.mit.edu	37	chr7	45697483	45697483	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaagccgctggcctgccaGggtaagtcggggatggggtg	6	7	20	8	2	0	0	0	0	0	0	1	2	0	2	3	7	2	2	3	7	2	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:45697483G>A	ENST00000297323.7	+	6	1328	c.1307_splice	c.e6+1	p.G436_splice	ADCY1_ENST00000432715.1_Splice_Site_p.G211_splice	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	436					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGGCCTGCCAGGGTAAGTCGG	0.617													6	5					0	0	0	0	A	45697483	G	A	45697483	5	1	30	1	0	0	0	0	0	0	1	0	292	1014	35	4	1328	4	ADCY1	7	45697483	Splice_Site	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	39075653	45697483	113441180	59	6012											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73960126	73960126	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcaggtggagctgctcttCaacacacgatacggtgagca	12	7	12	10	2	2	1	1	1	1	0	2	3	2	2	0	3	6	4	0	3	3	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:73960126C>T	ENST00000476977.1	+	16	3410	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.F605F|GTF2IRD1_ENST00000424337.2_Silent_p.F573F|GTF2IRD1_ENST00000265755.3_Silent_p.F573F			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	573						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCTGCTCTTCAACACACGAT	0.622													41	55					0	0	0	0	T	73960126	C	T	73960126	2	4	30	1	0	0	0	0	0	0	0	1	6918	825	29	2		2	GTF2IRD1	7	73960126	Silent	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	28262643	73960126	85178537	60	6013											
MUC17	140453	broad.mit.edu	37	chr7	100678983	100678983	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcacccctgggaccaCttctgctgaagccacttcat	9	8	7	17	0	2	1	1	1	1	0	2	2	2	2	5	1	3	2	5	1	1	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:100678983C>G	ENST00000306151.4	+	3	4350	c.4286C>G	c.(4285-4287)aCt>aGt	p.T1429S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1429	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGGGACCACTTCTGCTGAA	0.493													54	681					0	0	0	0	G	100678983	C	G	100678983	3	3	30	1	0	0	0	0	1	0	0	0	10044	565	20	4	4296	4	MUC17	7	100678983	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	26718857	100678983	58459680	61	6014											
MUC17	140453	broad.mit.edu	37	chr7	100686989	100686989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatgaccaccaggacaaaaCccagcacacggaccacttcc	14	3	6	18	1	0	1	0	1	0	0	1	3	1	3	6	2	2	1	6	2	2	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:100686989C>A	ENST00000306151.4	+	3	12356	c.12292C>A	c.(12292-12294)Ccc>Acc	p.P4098T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4098						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGGACAAAACCCAGCACACG	0.557													22	204					5.35356e-11	5.9085e-11	1	0	A	100686989	C	A	100686989	3	1	30	1	0	0	0	0	1	0	0	0	10044	507	18	4	12302	4	MUC17	7	100686989	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	8006	100686989	58451674	62	6015											
RINT1	60561	broad.mit.edu	37	chr7	105182869	105182869	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaggtacttacaatttcAtcagaaattcctaaaagaat	16	12	6	7	0	3	2	3	0	0	2	4	2	4	2	1	2	2	1	1	2	7	5			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:105182869A>T	ENST00000257700.2	+	4	519	c.288A>T	c.(286-288)tcA>tcT	p.S96S	RINT1_ENST00000477285.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	96					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTACAATTTCATCAGAAATTC	0.318													45	45					0	0	0	0	T	105182869	A	T	105182869	2	4	30	1	0	0	0	0	0	0	0	1	13461	204	8	5		5	RINT1	7	105182869	Silent	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08	4495880	105182869	53955794	63	6016											
DUS4L	11062	broad.mit.edu	37	chr7	107207564	107207564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcaggaaagaaaaaaaGatcccatagaaatgtttcat	19	10	7	5	0	2	3	2	0	0	3	3	4	3	4	1	1	0	1	1	1	7	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:107207564G>T	ENST00000265720.3	+	3	411	c.49G>T	c.(49-51)Gat>Tat	p.D17Y	DUS4L_ENST00000402620.1_5'UTR|DUS4L_ENST00000498786.1_3'UTR	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	17					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						AAGAAAAAAAGATCCCATAGA	0.333													39	32					4.16155e-14	4.67851e-14	1	0	T	107207564	G	T	107207564	3	4	30	1	0	0	0	0	1	0	0	0	4844	942	33	2	51	2	DUS4L	7	107207564	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	2024695	107207564	51931099	64	6017											
NEFM	4741	broad.mit.edu	37	chr8	24775399	24775399	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatcaccagtggaagagaaAgccaaatctcctgtgccaaa	17	6	8	10	0	2	1	1	0	1	1	3	3	2	2	4	1	2	0	4	1	5	0			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:24775399A>G	ENST00000221166.5	+	3	2813	c.2031A>G	c.(2029-2031)aaA>aaG	p.K677K	NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000437366.2_Silent_p.K638K|NEFM_ENST00000433454.2_Silent_p.K301K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	677	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGGAAGAGAAAGCCAAATCTC	0.473													24	26					0	0	0	0	G	24775399	A	G	24775399	2	3	30	1	0	0	0	0	0	0	0	1	10386	69	3	5		5	NEFM	8	24775399	Silent	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08		24775399	121588623	65	6018											
ADAM2	2515	broad.mit.edu	37	chr8	39613376	39613376	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataatagtggctcttggaatTtgtaataaaaatttacctac	15	15	6	5	0	1	0	0	0	1	0	1	1	1	1	1	2	2	2	1	2	9	9			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:39613376T>G	ENST00000265708.4	-	16	1771	c.1668A>C	c.(1666-1668)caA>caC	p.Q556H	ADAM2_ENST00000347580.4_Missense_Mutation_p.Q537H|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	556	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTCTTGGAATTTGTAATAAAA	0.303													10	36					0	0	0	0	G	39613376	T	G	39613376	3	3	30	1	0	0	0	0	1	0	0	0	241	1838	64	5	559	5	ADAM2	8	39613376	Missense_Mutation	SNP	T	TCGA-BA-A6DE-01A-22D-A31L-08	14837977	39613376	106750646	66	6019											
ASPH	444	broad.mit.edu	37	chr8	62430206	62430206	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtgagtcccggggtgcatGatggaatatttgatctgcat	9	12	13	7	2	1	3	0	3	1	0	2	4	2	4	1	3	2	2	1	3	2	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:62430206G>A	ENST00000541428.1	-	24	2080	c.1920C>T	c.(1918-1920)atC>atT	p.I640I	ASPH_ENST00000379454.4_Silent_p.I669I	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	669					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CGGGGTGCATGATGGAATATT	0.493													18	55					0	0	0	0	A	62430206	G	A	62430206	2	1	30	1	0	0	0	0	0	0	0	1	1057	1280	45	2		2	ASPH	8	62430206	Silent	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	22816830	62430206	83933816	67	6020											
LY96	23643	broad.mit.edu	37	chr8	74922285	74922285	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctatataactgtcaacacCatgaatcttccaaagcgcaa	15	10	4	12	1	3	1	1	1	2	0	4	1	4	1	2	0	3	1	2	0	7	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:74922285C>A	ENST00000284818.2	+	3	343	c.252C>A	c.(250-252)acC>acA	p.T84T	LY96_ENST00000518893.1_Silent_p.T54T	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	84					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			CTGTCAACACCATGAATCTTC	0.343													15	41					8.60227e-14	9.61118e-14	1	0	A	74922285	C	A	74922285	2	1	30	1	0	0	0	0	0	0	0	1	9167	581	21	4		4	LY96	8	74922285	Silent	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	12492079	74922285	71441737	68	6021											
ZFHX4	79776	broad.mit.edu	37	chr8	77766232	77766232	+	Frame_Shift_Del	DEL	G	G	-																															ccatggatgccactgatcaaGtggtatacaagcattgcaca																										TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:77766232delG	ENST00000521891.2	+	10	7523	c.7075delG	c.(7075-7077)tgfs	p.V2360fs	ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.V2334fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.V2315fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.V2315fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2315	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACTGATCAAGTGGTATACAA	0.493										HNSCC(33;0.089)			13	255	---	---	---	---					-	77766232	G	-	77766232	7	5	30	1	0	1	0	1	0	0	0	0	17730	1029	36	0	7109	0	ZFHX4	8	77766232	Frame_Shift_Del	DEL	G	TCGA-BA-A6DE-01A-22D-A31L-08	2843947	77766232	68597790	69	6022											
CDH17	1015	broad.mit.edu	37	chr8	95201502	95201503	+	Frame_Shift_Del	DEL	AT	AT	-																															ctaaacttcccctcttggccAtatccagttgcctgttaaaa																										TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:95201502_95201503delAT	ENST00000027335.3	-	3	186_187	c.62_63delAT	c.(61-63)tfs	p.Y21fs	CDH17_ENST00000450165.2_Frame_Shift_Del_p.Y21fs|CDH17_ENST00000441892.2_Frame_Shift_Del_p.Y21fs	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	21						integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTCTTGGCCATATCCAGTTGC	0.391													46	36	---	---	---	---					-	95201503	AT	-	95201502	7	5	30	1	0	1	0	1	0	0	0	0	3131	224	8	0	2499	0	CDH17	8	95201502	Frame_Shift_Del	DEL	AT	TCGA-BA-A6DE-01A-22D-A31L-08	17435270	95201502	51162520	70	6023											
COL22A1	169044	broad.mit.edu	37	chr8	139609183	139609183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctcttcttgaataagccGacgcagggtttccatggatg	9	11	11	10	2	2	1	0	1	2	0	3	3	3	2	2	2	2	3	2	2	2	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:139609183G>A	ENST00000303045.6	-	62	4842	c.4396C>T	c.(4396-4398)Cgg>Tgg	p.R1466W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R1446W|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1466	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R1466W(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGAATAAGCCGACGCAGGGTT	0.522										HNSCC(7;0.00092)			66	202					0	0	0	0	A	139609183	G	A	139609183	3	1	30	1	0	0	0	0	1	0	0	0	3711	1057	37	1	500	1	COL22A1	8	139609183	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	44407681	139609183	6754839	71	6024											
COL22A1	169044	broad.mit.edu	37	chr8	139845379	139845379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccttcacactgaacaaatCcatcaggtcaaaacctgtac	14	10	4	13	0	3	1	3	1	0	0	5	1	5	1	3	1	3	1	3	1	5	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:139845379C>A	ENST00000303045.6	-	5	1194	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	COL22A1_ENST00000435777.1_Missense_Mutation_p.D250Y	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	250	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGAACAAATCCATCAGGTCA	0.463										HNSCC(7;0.00092)			21	57					2.37509e-13	2.63737e-13	1	0	A	139845379	C	A	139845379	3	1	30	1	0	0	0	0	1	0	0	0	3711	855	30	2	4376	2	COL22A1	8	139845379	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	236196	139845379	6518643	72	6025											
PLEC	5339	broad.mit.edu	37	chr8	144996018	144996018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggatgccggcctcctgcagCctctgagctgacaccttccg	6	8	11	16	2	1	2	0	2	1	0	3	3	3	3	6	2	4	2	6	2	0	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:144996018C>T	ENST00000322810.4	-	32	8551	c.8382G>A	c.(8380-8382)agG>agA	p.R2794R	PLEC_ENST00000357649.2_Silent_p.R2661R|PLEC_ENST00000354958.2_Silent_p.R2635R|PLEC_ENST00000398774.2_Silent_p.R2625R|PLEC_ENST00000527096.1_Silent_p.R2680R|PLEC_ENST00000345136.3_Silent_p.R2657R|PLEC_ENST00000354589.3_Silent_p.R2657R|PLEC_ENST00000436759.2_Silent_p.R2684R|PLEC_ENST00000356346.3_Silent_p.R2643R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2794	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCTGCAGCCTCTGAGCTG	0.692													4	56					0	0	0	0	T	144996018	C	T	144996018	2	4	30	1	0	0	0	0	0	0	0	1	12124	738	26	4		4	PLEC	8	144996018	Silent	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	5150639	144996018	1368004	73	6026											
INVS	27130	broad.mit.edu	37	chr9	103054880	103054880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagcccagcaggcggcatGacacagaacccaaggccaaa	15	1	12	13	1	0	2	0	1	0	1	0	3	0	3	3	4	3	2	3	4	4	0			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr9:103054880G>A	ENST00000262457.2	+	14	2526	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N	INVS_ENST00000262456.2_Intron|INVS_ENST00000541287.1_Missense_Mutation_p.D685N	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	781					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CAGGCGGCATGACACAGAACC	0.622													27	45					0	0	0	0	A	103054880	G	A	103054880	3	1	30	1	0	0	0	0	1	0	0	0	7840	1290	45	2	2391	2	INVS	9	103054880	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08		103054880	38158551	74	6027											
ADAMTS13	11093	broad.mit.edu	37	chr9	136320459	136320459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccggcgtgacacctgcctcgGaccccaggcccaggcgcctg	5	4	13	19	4	0	1	0	1	0	0	1	2	0	2	7	4	1	0	7	4	0	0			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr9:136320459G>A	ENST00000371929.3	+	25	3746	c.3302G>A	c.(3301-3303)gGa>gAa	p.G1101E	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.G1070E|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.G1101E	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1101	TSP type-1 8.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACCTGCCTCGGACCCCAGGCC	0.662													61	154					0	0	0	0	A	136320459	G	A	136320459	3	1	30	1	0	0	0	0	1	0	0	0	258	1174	41	2	3400	2	ADAMTS13	9	136320459	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	33265579	136320459	4892972	75	6028											
NOTCH1	4851	broad.mit.edu	37	chr9	139395110	139395114	+	Frame_Shift_Del	DEL	GCATC	GCATC	-																															cctccagcaggcgcttggcgGcatcagagcgtgagtagcgg																										TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr9:139395110_139395114delGCATC	ENST00000277541.6	-	31	5899_5903	c.5824_5828delGATGC	c.(5824-5829)cfs	p.DA1942fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1942					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGCTTGGCGGCATCAGAGCGTGAG	0.663			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			159	154	---	---	---	---					-	139395114	GCATC	-	139395110	7	5	30	1	0	1	0	1	0	0	0	0	10617	1203	42	0	1855	0	NOTCH1	9	139395110	Frame_Shift_Del	DEL	GCATC	TCGA-BA-A6DE-01A-22D-A31L-08	3074651	139395110	1818321	76	6029											
CACNA1B	774	broad.mit.edu	37	chr9	140901306	140901306	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggcatgttctcgtcctttTacttcattgtcctgacactg	7	16	7	11	1	2	1	1	1	1	0	5	1	4	1	2	1	1	2	2	1	2	5			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr9:140901306T>A	ENST00000371372.1	+	16	2207	c.2062T>A	c.(2062-2064)Tac>Aac	p.Y688N	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.Y688N|CACNA1B_ENST00000371355.4_Missense_Mutation_p.Y689N|CACNA1B_ENST00000371357.1_Missense_Mutation_p.Y689N|CACNA1B_ENST00000371363.1_Missense_Mutation_p.Y688N	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	688					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTCGTCCTTTTACTTCATTGT	0.562													3	24					0	0	0	0	A	140901306	T	A	140901306	3	1	30	1	0	0	0	0	1	0	0	0	2564	1754	61	5	2124	5	CACNA1B	9	140901306	Missense_Mutation	SNP	T	TCGA-BA-A6DE-01A-22D-A31L-08	1506196	140901306	312125	77	6030											
OLAH	55301	broad.mit.edu	37	chr10	15106498	15106498	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtcaagtgcaactcctgtAcatgtaagtaatttagcttt	11	16	7	7	0	1	0	1	0	0	0	2	0	2	0	1	0	4	5	1	0	6	7			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr10:15106498A>T	ENST00000378217.3	+	6	745	c.558A>T	c.(556-558)gtA>gtT	p.V186V	OLAH_ENST00000378228.3_Silent_p.V133V	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	133					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CAACTCCTGTACATGTAAGTA	0.383													15	32					0	0	0	0	T	15106498	A	T	15106498	2	4	30	1	0	0	0	0	0	0	0	1	10922	378	14	5		5	OLAH	10	15106498	Silent	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08		15106498	120428249	78	6031											
ZEB1	6935	broad.mit.edu	37	chr10	31809603	31809603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaagaaacaatcaatgcttCacccatacaacaaggtggcc	17	6	6	12	0	2	1	2	0	0	1	2	1	2	1	2	2	4	1	2	2	7	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr10:31809603C>T	ENST00000446923.2	+	7	1683	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L	ZEB1_ENST00000542815.3_Missense_Mutation_p.S380L|ZEB1_ENST00000560721.2_Missense_Mutation_p.S427L|ZEB1_ENST00000361642.5_Missense_Mutation_p.S448L|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.S447L	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	447					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATCAATGCTTCACCCATACAA	0.383													4	64					0	0	0	0	T	31809603	C	T	31809603	3	4	30	1	0	0	0	0	1	0	0	0	17718	838	29	2	1380	2	ZEB1	10	31809603	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	16703105	31809603	103725144	79	6032											
TET1	80312	broad.mit.edu	37	chr10	70441247	70441247	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtagcttaccaaaatcaggTatgtattggtatgaactttt	13	15	8	5	0	1	1	1	1	0	0	1	1	1	1	1	2	3	5	1	2	8	8			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr10:70441247T>C	ENST00000373644.4	+	9	5123		c.e9+2			NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1						DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CAAAATCAGGTATGTATTGGT	0.368													9	9					0	0	0	0	C	70441247	T	C	70441247	5	2	30	1	0	0	0	0	0	0	1	0	15863	1652	57	5	4946	5	TET1	10	70441247	Splice_Site	SNP	T	TCGA-BA-A6DE-01A-22D-A31L-08	38631644	70441247	65093500	80	6033											
KIF20B	9585	broad.mit.edu	37	chr10	91492823	91492823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaaagaaaggtactacttCagctgccagcagcaggcgtt	13	7	11	10	1	1	1	1	0	0	1	1	1	1	1	1	2	7	6	1	2	4	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr10:91492823C>T	ENST00000416354.1	+	19	2627	c.2555C>T	c.(2554-2556)tCa>tTa	p.S852L	KIF20B_ENST00000371728.3_Intron|KIF20B_ENST00000394289.2_Intron|KIF20B_ENST00000478929.1_Intron|KIF20B_ENST00000260753.4_Intron			Q96Q89	KI20B_HUMAN	kinesin family member 20B	849					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GGTACTACTTCAGCTGCCAGC	0.383													21	18					0	0	0	0	T	91492823	C	T	91492823	3	4	30	1	0	0	0	0	1	0	0	0	8338	841	29	2		2	KIF20B	10	91492823	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	21051576	91492823	44041924	81	6034											
ZNF195	7748	broad.mit.edu	37	chr11	3380776	3380776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagggtttttcttcagaatGagttctcttatggttagaaa	10	17	10	4	0	3	3	1	1	2	2	4	3	3	3	0	2	0	4	0	2	5	7			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:3380776G>C	ENST00000354599.6	-	4	1350	c.1246C>G	c.(1246-1248)Cat>Gat	p.H416D	ZNF195_ENST00000429541.2_Missense_Mutation_p.H420D|ZNF195_ENST00000005082.9_Missense_Mutation_p.H465D|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000399602.4_Missense_Mutation_p.H488D|ZNF195_ENST00000343338.7_Missense_Mutation_p.H420D|ZNF195_ENST00000526601.1_Missense_Mutation_p.H469D	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCTTCAGAATGAGTTCTCTTA	0.433													44	83					0	0	0	0	C	3380776	G	C	3380776	3	2	30	1	0	0	0	0	1	0	0	0	17853	1290	45	2	431	2	ZNF195	11	3380776	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08		3380776	131625740	82	6035											
STIM1	6786	broad.mit.edu	37	chr11	4112585	4112585	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtggcccccaaacctcctCagatgagccgtgctgcagac	8	7	11	15	1	1	3	1	1	0	2	2	3	2	3	5	1	4	2	5	1	1	0			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:4112585C>T	ENST00000300737.4	+	12	2184	c.1615C>T	c.(1615-1617)Cag>Tag	p.Q539*	STIM1_ENST00000533977.1_Nonsense_Mutation_p.Q366*|STIM1_ENST00000527651.1_3'UTR	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	539					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CAAACCTCCTCAGATGAGCCG	0.597													31	71					0	0	0	0	T	4112585	C	T	4112585	4	4	30	1	0	0	0	0	0	1	0	0	15373	827	29	2	1661	2	STIM1	11	4112585	Nonsense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	731809	4112585	130893931	83	6036											
PTH	5741	broad.mit.edu	37	chr11	13513987	13513987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttagttaatacattcacatCagctttgtctgcctctccaa	10	16	4	11	0	4	0	2	0	2	0	5	0	4	0	2	0	3	2	2	0	4	6			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:13513987C>G	ENST00000282091.1	-	3	427	c.313G>C	c.(313-315)Gat>Cat	p.D105H	PTH_ENST00000529816.1_Missense_Mutation_p.D105H	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	105					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		ACATTCACATCAGCTTTGTCT	0.428													18	47					0	0	0	0	G	13513987	C	G	13513987	3	3	30	1	0	0	0	0	1	0	0	0	12837	826	29	2	38	2	PTH	11	13513987	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	9401402	13513987	121492529	84	6037											
CCDC73	493860	broad.mit.edu	37	chr11	32635093	32635093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaagaaatgcaaggggtcGaactgctcgctgtttgactt	12	10	11	8	2	0	2	0	1	0	1	2	3	0	2	0	2	3	4	0	2	4	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:32635093G>A	ENST00000335185.5	-	16	2814	c.2771C>T	c.(2770-2772)tCg>tTg	p.S924L		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	924										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GCAAGGGGTCGAACTGCTCGC	0.378													31	68					0	0	0	0	A	32635093	G	A	32635093	3	1	30	1	0	0	0	0	1	0	0	0	2873	1059	37	1	480	1	CCDC73	11	32635093	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	19121106	32635093	102371423	85	6038											
LRRC4C	57689	broad.mit.edu	37	chr11	40137054	40137054	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actagtgactgaaggttgtcAaaggcattccgttcaatcac	12	11	9	9	1	3	2	3	2	0	0	4	2	4	2	1	2	0	3	1	2	4	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:40137054A>G	ENST00000278198.2	-	2	2752	c.789T>C	c.(787-789)ttT>ttC	p.F263F	LRRC4C_ENST00000530763.1_Silent_p.F263F|LRRC4C_ENST00000527150.1_Silent_p.F263F|LRRC4C_ENST00000528697.1_Silent_p.F263F			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	263					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAAGGTTGTCAAAGGCATTCC	0.453													28	76					0	0	0	0	G	40137054	A	G	40137054	2	3	30	1	0	0	0	0	0	0	0	1	9072	127	5	5		5	LRRC4C	11	40137054	Silent	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08	7501961	40137054	94869462	86	6039											
PHF21A	51317	broad.mit.edu	37	chr11	45992797	45992797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccttctgactgttgatgGcggtcaccatagcaatggta	9	11	11	10	1	2	2	1	2	1	0	2	2	2	2	2	3	2	3	2	3	3	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:45992797G>T	ENST00000257821.4	-	7	1105	c.482C>A	c.(481-483)gCc>gAc	p.A161D	PHF21A_ENST00000323180.6_Missense_Mutation_p.A161D|PHF21A_ENST00000418153.2_Missense_Mutation_p.A161D	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	161					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						ACTGTTGATGGCGGTCACCAT	0.547													14	133					3.45872e-05	3.59786e-05	1	0	T	45992797	G	T	45992797	3	4	30	1	0	0	0	0	1	0	0	0	11905	1203	42	4	1638	4	PHF21A	11	45992797	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	5855743	45992797	89013719	87	6040											
MPEG1	219972	broad.mit.edu	37	chr11	58978243	58978243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtctccagttgctgcagtgCctggaaccaaactctgcctt	7	12	9	13	0	2	0	0	0	2	0	3	1	2	1	4	1	6	3	4	1	2	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:58978243C>T	ENST00000361050.3	-	1	2181	c.2096G>A	c.(2095-2097)gGc>gAc	p.G699D		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	699						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TGCTGCAGTGCCTGGAACCAA	0.498													5	124					0	0	0	0	T	58978243	C	T	58978243	3	4	30	1	0	0	0	0	1	0	0	0	9793	739	26	4	58	4	MPEG1	11	58978243	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	12985446	58978243	76028273	88	6041											
AHNAK	79026	broad.mit.edu	37	chr11	62296399	62296399	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcatcaggacactccagAtcaacatcgggcacctccgc	10	8	8	15	2	2	1	2	0	0	1	5	2	4	2	3	2	2	2	3	2	1	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:62296399A>C	ENST00000378024.4	-	5	5764	c.5490T>G	c.(5488-5490)gaT>gaG	p.D1830E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1830					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GACACTCCAGATCAACATCGG	0.512													17	186					0	0	0	0	C	62296399	A	C	62296399	3	2	30	1	0	0	0	0	1	0	0	0	414	330	12	5	12302	5	AHNAK	11	62296399	Missense_Mutation	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08	3318156	62296399	72710117	89	6042											
AHNAK	79026	broad.mit.edu	37	chr11	62297385	62297385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgccagtctgggccatGaacctccacatctggtgcat	8	9	11	13	0	2	1	0	1	2	0	3	1	3	1	4	3	3	1	4	3	1	0			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:62297385G>T	ENST00000378024.4	-	5	4778	c.4504C>A	c.(4504-4506)Cat>Aat	p.H1502N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1502					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGGCCATGAACCTCCACA	0.468													84	202					7.427e-35	9.1448e-35	1	0	T	62297385	G	T	62297385	3	4	30	1	0	0	0	0	1	0	0	0	414	1290	45	2	13288	2	AHNAK	11	62297385	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	986	62297385	72709131	90	6043											
SLC22A25	387601	broad.mit.edu	37	chr11	62931543	62931543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtgattccagtagctcttCcccttggagtaaaaacagca	12	10	8	11	0	1	1	0	1	1	0	3	2	3	2	3	1	3	4	3	1	4	5			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:62931543C>T	ENST00000306494.6	-	9	1396	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	466					transmembrane transport	integral to membrane		p.G466V(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AGTAGCTCTTCCCCTTGGAGT	0.403													20	150					0	0	0	0	T	62931543	C	T	62931543	3	4	30	1	0	0	0	0	1	0	0	0	14542	855	30	2	250	2	SLC22A25	11	62931543	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	634158	62931543	72074973	91	6044											
KCNK7	10089	broad.mit.edu	37	chr11	65360906	65360906	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtcctagtccaggctcctCttcccccttcccccacacgc	5	9	6	21	1	1	0	0	0	1	0	6	1	6	0	7	1	0	1	7	1	1	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:65360906C>G	ENST00000394216.2	-	2	982	c.759G>C	c.(757-759)aaG>aaC	p.K253N	KCNK7_ENST00000394217.2_Intron|KCNK7_ENST00000340313.4_Intron|KCNK7_ENST00000342202.4_Intron	NM_005714.1|NM_033455.1	NP_005705.1|NP_258416.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						CCAGGCTCCTCTTCCCCCTTC	0.652													37	53					0	0	0	0	G	65360906	C	G	65360906	3	3	30	1	0	0	0	0	1	0	0	0	8124	912	32	2	273	2	KCNK7	11	65360906	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	2429363	65360906	69645610	92	6045											
SLCO2B1	11309	broad.mit.edu	37	chr11	74914426	74914426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggccctgagctgtgggCgtcgagctgtctgtcgctac	4	10	15	12	3	1	1	0	1	1	0	3	2	1	1	1	2	3	3	1	2	1	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:74914426C>T	ENST00000289575.5	+	13	2298	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R491C|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R408C|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R613C|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R408C|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R519C	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	635					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GAGCTGTGGGCGTCGAGCTGT	0.602													52	127					0	0	0	0	T	74914426	C	T	74914426	3	4	30	1	0	0	0	0	1	0	0	0	14815	768	27	1	1953	1	SLCO2B1	11	74914426	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	9553520	74914426	60092090	93	6046											
ANKRD42	338699	broad.mit.edu	37	chr11	82921384	82921384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgacagcccaggatgacCggggatgcactcctttacat	10	9	10	12	1	1	2	0	2	1	0	2	4	2	4	3	3	3	1	3	3	1	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:82921384C>T	ENST00000393389.3	+	4	1305	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.R125W|ANKRD42_ENST00000393392.2_Missense_Mutation_p.R97W|ANKRD42_ENST00000260047.6_Missense_Mutation_p.R125W|ANKRD42_ENST00000526731.1_Missense_Mutation_p.R125W|ANKRD42_ENST00000528722.1_Missense_Mutation_p.R12W|ANKRD42_ENST00000533342.1_Missense_Mutation_p.R125W			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	97										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CCAGGATGACCGGGGATGCAC	0.393													24	56					0	0	0	0	T	82921384	C	T	82921384	3	4	30	1	0	0	0	0	1	0	0	0	669	643	23	1	303	1	ANKRD42	11	82921384	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	8006958	82921384	52085132	94	6047											
HTR3A	3359	broad.mit.edu	37	chr11	113860193	113860193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcccttcttccagccatggGaaaccactgcagccacatgg	9	8	9	15	0	1	0	0	0	1	0	2	1	2	1	5	2	5	1	5	2	1	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:113860193G>A	ENST00000504030.2	+	9	1590	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	HTR3A_ENST00000535865.1_Missense_Mutation_p.G126E|HTR3A_ENST00000355556.2_Missense_Mutation_p.G420E|HTR3A_ENST00000375498.2_Missense_Mutation_p.G388E|HTR3A_ENST00000506841.2_Missense_Mutation_p.G414E|HTR3A_ENST00000299961.5_Missense_Mutation_p.G367E			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	382					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCAGCCATGGGAAACCACTGC	0.587													34	132					0	0	0	0	A	113860193	G	A	113860193	3	1	30	1	0	0	0	0	1	0	0	0	7497	1174	41	2	1315	2	HTR3A	11	113860193	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	30938809	113860193	21146323	95	6048											
ABCG4	64137	broad.mit.edu	37	chr11	119020694	119020694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgatggcggagaaggcgctgGaggccgtgggctgtggacta	7	7	20	7	3	0	2	0	1	0	1	0	5	0	4	1	7	0	2	1	7	2	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:119020694G>C	ENST00000307417.3	+	2	383	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	ABCG4_ENST00000449422.2_Missense_Mutation_p.E7Q|ABCG4_ENST00000531739.1_Missense_Mutation_p.E7Q	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	7					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GAAGGCGCTGGAGGCCGTGGG	0.687													21	44					0	0	0	0	C	119020694	G	C	119020694	3	2	30	1	0	0	0	0	1	0	0	0	70	1175	41	2	21	2	ABCG4	11	119020694	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	5160501	119020694	15985822	96	6049											
C11orf63	79864	broad.mit.edu	37	chr11	122817446	122817446	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgtagcaattctgaaggCtatctgtttcaactggaaaa	13	11	9	8	1	3	1	1	1	2	0	3	2	3	2	1	2	3	4	1	2	7	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:122817446C>T	ENST00000227349.2	+	6	2172	c.1875C>T	c.(1873-1875)ggC>ggT	p.G625G	C11orf63_ENST00000531316.1_Silent_p.G625G	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	625										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ATTCTGAAGGCTATCTGTTTC	0.393													13	33					0	0	0	0	T	122817446	C	T	122817446	2	4	30	1	0	0	0	0	0	0	0	1	1665	784	28	4		4	C11orf63	11	122817446	Silent	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	3796752	122817446	12189070	97	6050											
NUP107	57122	broad.mit.edu	37	chr12	69135728	69135728	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgcctacagttagcagatAtggtatcctctgagcgccac	11	10	9	11	1	1	2	0	1	1	1	2	2	2	2	3	1	4	3	3	1	5	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr12:69135728A>G	ENST00000229179.4	+	27	2970	c.2638A>G	c.(2638-2640)Atg>Gtg	p.M880V	NUP107_ENST00000378905.2_Missense_Mutation_p.M641V|NUP107_ENST00000539906.1_Missense_Mutation_p.M851V	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	880					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTTAGCAGATATGGTATCCTC	0.378													33	41					0	0	0	0	G	69135728	A	G	69135728	3	3	30	1	0	0	0	0	1	0	0	0	10824	449	16	5	2744	5	NUP107	12	69135728	Missense_Mutation	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08		69135728	64716167	98	6051											
C12orf50	160419	broad.mit.edu	37	chr12	88379766	88379766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatataggatgcattctcCgcatttcgatttttattatt	9	19	7	6	2	1	0	0	0	1	0	3	3	1	2	1	2	1	2	1	2	4	9			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr12:88379766C>T	ENST00000298699.2	-	11	1167	c.987G>A	c.(985-987)gcG>gcA	p.A329A	C12orf50_ENST00000550553.1_Silent_p.A290A	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	329										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATGCATTCTCCGCATTTCGAT	0.468													38	65					0	0	0	0	T	88379766	C	T	88379766	2	4	30	1	0	0	0	0	0	0	0	1	1707	639	23	1		1	C12orf50	12	88379766	Silent	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	19244038	88379766	45472129	99	6052											
CHST11	50515	broad.mit.edu	37	chr12	105150837	105150837	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggagggtgctgacccccaaCgacctgaagcacttggtggt	8	7	14	12	2	0	2	0	2	0	0	0	4	0	3	3	4	3	2	3	4	2	1	rs141459164		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr12:105150837C>T	ENST00000303694.5	+	3	754	c.315C>T	c.(313-315)aaC>aaT	p.N105N	CHST11_ENST00000549260.1_Silent_p.N100N	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	105					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TGACCCCCAACGACCTGAAGC	0.612													13	27					0	0	0	0	T	105150837	C	T	105150837	2	4	30	1	0	0	0	0	0	0	0	1	3428	535	19	1		1	CHST11	12	105150837	Silent	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	16771071	105150837	28701058	100	6053											
ZNF664	144348	broad.mit.edu	37	chr12	124496861	124496861	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagagaccatacaggagagaAggtctataaatgtgatgatt	16	9	12	4	0	1	4	0	2	1	2	1	8	1	5	1	2	1	0	1	2	5	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr12:124496861A>G	ENST00000539644.1	+	6	2000	c.170A>G	c.(169-171)aAg>aGg	p.K57R	ZNF664_ENST00000538932.2_Missense_Mutation_p.K57R|ZNF664_ENST00000337815.4_Missense_Mutation_p.K57R|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000392404.3_Missense_Mutation_p.K57R			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		ACAGGAGAGAAGGTCTATAAA	0.363													32	47					0	0	0	0	G	124496861	A	G	124496861	3	3	30	1	0	0	0	0	1	0	0	0	18167	72	3	5	172	5	ZNF664	12	124496861	Missense_Mutation	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08	19346024	124496861	9355034	101	6054											
NOC4L	79050	broad.mit.edu	37	chr12	132633409	132633409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgcagcccacgctcatGatcgacttcctcacccgcgc	6	7	9	19	5	2	1	2	1	0	0	4	2	3	1	3	1	1	2	3	1	0	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr12:132633409G>T	ENST00000330579.1	+	9	911	c.870G>T	c.(868-870)atG>atT	p.M290I	NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	290					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCACGCTCATGATCGACTTCC	0.677													6	20					0.000157383	0.00016094	1	0	T	132633409	G	T	132633409	3	4	30	1	0	0	0	0	1	0	0	0	10585	1290	45	2	904	2	NOC4L	12	132633409	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	8136548	132633409	1218486	102	6055											
TRIM13	10206	broad.mit.edu	37	chr13	50586468	50586468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaacatgtcttctgttctaTtgaagatgcctatgctcagg	10	14	8	9	0	4	2	1	1	3	1	4	2	4	2	1	1	3	2	1	1	4	5			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr13:50586468T>C	ENST00000378182.3	+	2	1130	c.392T>C	c.(391-393)aTt>aCt	p.I131T	TRIM13_ENST00000420995.2_Missense_Mutation_p.I131T|TRIM13_ENST00000356017.4_Missense_Mutation_p.I134T|TRIM13_ENST00000298772.5_Missense_Mutation_p.I134T|TRIM13_ENST00000457662.2_Missense_Mutation_p.I131T|TRIM13_ENST00000478111.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	131					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TTCTGTTCTATTGAAGATGCC	0.507													85	44					0	0	0	0	C	50586468	T	C	50586468	3	2	30	1	0	0	0	0	1	0	0	0	16583	1493	52	5	407	5	TRIM13	13	50586468	Missense_Mutation	SNP	T	TCGA-BA-A6DE-01A-22D-A31L-08		50586468	64583410	103	6056											
KLHL1	57626	broad.mit.edu	37	chr13	70514279	70514279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaagcttcatgaggaagtGgcagcacacttccaccacct	13	7	8	13	0	1	1	1	1	0	0	2	2	2	2	3	2	2	3	3	2	3	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr13:70514279G>T	ENST00000377844.4	-	4	1666	c.907C>A	c.(907-909)Cac>Aac	p.H303N	KLHL1_ENST00000545028.1_Missense_Mutation_p.H110N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	303					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATGAGGAAGTGGCAGCACACT	0.473													15	9					2.23348e-06	2.378e-06	1	0	T	70514279	G	T	70514279	3	4	30	1	0	0	0	0	1	0	0	0	8417	1348	47	4	1371	4	KLHL1	13	70514279	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	19927811	70514279	44655599	104	6057											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20784496	20784496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatggactgagttctgtgcGgacaatatctagctttccag	9	13	11	8	1	2	2	0	2	2	0	3	4	3	4	1	2	2	2	1	2	3	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr14:20784496G>A	ENST00000398169.3	-	5	803	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.R63C			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	63						chromosome|nucleus	ligase activity|metal ion binding|protein binding	p.R63C(1)	HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AGTTCTGTGCGGACAATATCT	0.502			T	HMGA2	leiomyoma								20	49					0	0	0	0	A	20784496	G	A	20784496	3	1	30	1	0	0	0	0	1	0	0	0	2941	1116	39	1	658	1	CCNB1IP1	14	20784496	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08		20784496	86565044	105	6058											
NID2	22795	broad.mit.edu	37	chr14	52534597	52534597	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccgagggcagcgccccGcgcttgacctcctcgtaagc	5	7	11	18	5	1	1	0	1	1	0	4	2	2	1	5	1	2	3	5	1	1	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr14:52534597G>A	ENST00000216286.5	-	2	512	c.513C>T	c.(511-513)cgC>cgT	p.R171R	NID2_ENST00000541773.1_Silent_p.R118R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	171	NIDO.					basement membrane	calcium ion binding|collagen binding	p.R171R(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCAGCGCCCCGCGCTTGACCT	0.632													75	197					0	0	0	0	A	52534597	G	A	52534597	2	1	30	1	0	0	0	0	0	0	0	1	10485	1074	38	1		1	NID2	14	52534597	Silent	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	31750101	52534597	54814943	106	6059											
ARID4A	5926	broad.mit.edu	37	chr14	58820424	58820427	+	Frame_Shift_Del	DEL	AGAC	AGAC	-																															gaaggagaggaagatgaggaAgacatggaaccctgcctaac																										TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr14:58820424_58820427delAGAC	ENST00000355431.3	+	17	2077_2080	c.1704_1707delAGAC	c.(1702-1707)gafs	p.ED568fs	ARID4A_ENST00000395168.3_Frame_Shift_Del_p.ED568fs|ARID4A_ENST00000553355.1_3'UTR|ARID4A_ENST00000348476.3_Frame_Shift_Del_p.ED568fs|ARID4A_ENST00000431317.2_Frame_Shift_Del_p.ED568fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	568					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAGATGAGGAAGACATGGAACCCT	0.368													19	52	---	---	---	---					-	58820427	AGAC	-	58820424	7	5	30	1	0	1	0	1	0	0	0	0	921	69	3	0	1766	0	ARID4A	14	58820424	Frame_Shift_Del	DEL	AGAC	TCGA-BA-A6DE-01A-22D-A31L-08	6285827	58820424	48529116	107	6060											
DACT1	51339	broad.mit.edu	37	chr14	59113333	59113333	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggccacggacgggaggcGgtggtggccaaacctaagca	10	4	16	11	3	0	0	0	0	0	0	0	2	0	2	3	7	2	1	3	7	2	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr14:59113333G>T	ENST00000395153.3	+	4	2028	c.1881G>T	c.(1879-1881)gcG>gcT	p.A627A	DACT1_ENST00000395151.3_Silent_p.A383A|DACT1_ENST00000335867.4_Silent_p.A664A|DACT1_ENST00000541264.2_Silent_p.A383A|DACT1_ENST00000556859.1_Silent_p.A383A	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	664					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GACGGGAGGCGGTGGTGGCCA	0.721													6	9					3.59834e-05	3.72171e-05	1	0	T	59113333	G	T	59113333	2	4	30	1	0	0	0	0	0	0	0	1	4255	1103	39	3		3	DACT1	14	59113333	Silent	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	292909	59113333	48236207	108	6061											
ENTPD5	957	broad.mit.edu	37	chr14	74439610	74439610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatgtctgtgtcaacagctCggtcataatagtaagagaaa	14	11	9	7	1	4	1	3	0	1	1	5	2	4	1	0	1	2	2	0	1	5	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr14:74439610C>T	ENST00000334696.6	-	13	1323	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	ENTPD5_ENST00000557325.1_Missense_Mutation_p.R335Q	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	335					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GTCAACAGCTCGGTCATAATA	0.527													77	150					0	0	0	0	T	74439610	C	T	74439610	3	4	30	1	0	0	0	0	1	0	0	0	5180	884	31	1	298	1	ENTPD5	14	74439610	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	15326277	74439610	32909930	109	6062											
ASB2	51676	broad.mit.edu	37	chr14	94404063	94404063	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgccttctccttgatgacGgcccagtcctcaaagctgtc	6	11	8	16	1	2	2	1	2	1	0	5	2	3	2	5	1	2	1	5	1	1	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr14:94404063G>C	ENST00000555019.1	-	9	2182	c.1752C>G	c.(1750-1752)gcC>gcG	p.A584A	ASB2_ENST00000315988.4_Silent_p.A536A	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	536	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCTTGATGACGGCCCAGTCCT	0.617													5	69					0	0	0	0	C	94404063	G	C	94404063	2	2	30	1	0	0	0	0	0	0	0	1	1027	1103	39	3		3	ASB2	14	94404063	Silent	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	19964453	94404063	12945477	110	6063											
INF2	64423	broad.mit.edu	37	chr14	105174823	105174823	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccccgacgccgaggctgtgGagcccgacttctccagcatc	6	6	12	17	4	1	0	0	0	1	0	3	4	1	1	5	2	2	2	5	2	0	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr14:105174823G>C	ENST00000392634.4	+	9	1898	c.1786G>C	c.(1786-1788)Gag>Cag	p.E596Q	INF2_ENST00000330634.7_Missense_Mutation_p.E596Q	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	596	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CGAGGCTGTGGAGCCCGACTT	0.682											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	55					0	0	0	0	C	105174823	G	C	105174823	3	2	30	1	0	0	0	0	1	0	0	0	7787	1175	41	2	1820	2	INF2	14	105174823	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	10770760	105174823	2174717	111	6064											
MYO5A	4644	broad.mit.edu	37	chr15	52676506	52676506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcatcttgaaatagttctGgtagcatcttaaactaagtc	13	14	6	8	0	4	1	1	1	3	0	5	1	4	1	0	1	2	3	0	1	6	6			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr15:52676506G>A	ENST00000399231.3	-	15	2009	c.1766C>T	c.(1765-1767)cCa>cTa	p.P589L	MYO5A_ENST00000356338.6_Missense_Mutation_p.P589L|MYO5A_ENST00000399233.2_Missense_Mutation_p.P589L|MYO5A_ENST00000553916.1_Missense_Mutation_p.P589L|MYO5A_ENST00000358212.6_Missense_Mutation_p.P589L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	589	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AAATAGTTCTGGTAGCATCTT	0.423													27	19					0	0	0	0	A	52676506	G	A	52676506	3	1	30	1	0	0	0	0	1	0	0	0	10148	1348	47	4	3909	4	MYO5A	15	52676506	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08		52676506	49854886	112	6065											
TM6SF1	53346	broad.mit.edu	37	chr15	83805347	83805347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatagcatatggagttcttCctcagctcttggcctatcgt	8	14	8	11	1	3	0	1	0	2	0	5	1	4	1	2	2	2	3	2	2	3	6			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr15:83805347C>A	ENST00000322019.9	+	10	1310	c.1036C>A	c.(1036-1038)Cct>Act	p.P346T	TM6SF1_ENST00000565774.1_Missense_Mutation_p.P315T|TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000379386.4_Missense_Mutation_p.P349T			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	346						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGAGTTCTTCCTCAGCTCTT	0.368													27	82					2.61193e-14	2.97178e-14	1	0	A	83805347	C	A	83805347	3	1	30	1	0	0	0	0	1	0	0	0	16066	855	30	2	1074	2	TM6SF1	15	83805347	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	31128841	83805347	18726045	113	6066											
PKD1	5310	broad.mit.edu	37	chr16	2141816	2141816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgcagctgcaggaagcGcagccggtcgcggctctcct	5	8	15	13	4	1	0	0	0	1	0	3	1	1	1	2	3	5	6	2	3	1	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:2141816G>A	ENST00000262304.4	-	41	11711	c.11503C>T	c.(11503-11505)Cgc>Tgc	p.R3835C	PKD1_ENST00000423118.1_Missense_Mutation_p.R3834C|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3835					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGCAGGAAGCGCAGCCGGTCG	0.697													3	15					0	0	0	0	A	2141816	G	A	2141816	3	1	30	1	0	0	0	0	1	0	0	0	12035	1087	38	1	1432	1	PKD1	16	2141816	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08		2141816	88212937	114	6067											
CLN3	1201	broad.mit.edu	37	chr16	28500627	28500627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacatggctctggtttcccGatgtcctcttgtggctaagg	5	15	11	10	1	2	0	0	0	2	0	4	1	4	0	2	4	1	3	2	4	2	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:28500627G>A	ENST00000569430.1	-	5	1025	c.206C>T	c.(205-207)tCg>tTg	p.S69L	CLN3_ENST00000535392.1_Missense_Mutation_p.S15L|CLN3_ENST00000359984.7_Missense_Mutation_p.S69L|CLN3_ENST00000565316.1_Missense_Mutation_p.S69L|CLN3_ENST00000395653.4_5'UTR|CLN3_ENST00000360019.2_Missense_Mutation_p.S69L|CLN3_ENST00000357857.9_Missense_Mutation_p.S15L|CLN3_ENST00000568224.1_Missense_Mutation_p.S15L|CLN3_ENST00000354630.5_Missense_Mutation_p.S69L|CLN3_ENST00000567963.1_Missense_Mutation_p.S69L|CLN3_ENST00000357076.5_Missense_Mutation_p.S69L|CLN3_ENST00000333496.9_Missense_Mutation_p.S69L|CLN3_ENST00000355477.5_Missense_Mutation_p.S69L|CLN3_ENST00000357806.7_Missense_Mutation_p.S69L			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	69					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CTGGTTTCCCGATGTCCTCTT	0.547													10	19					0	0	0	0	A	28500627	G	A	28500627	3	1	30	1	0	0	0	0	1	0	0	0	3573	1059	37	1	1162	1	CLN3	16	28500627	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	26358811	28500627	61854126	115	6068											
PRRT2	112476	broad.mit.edu	37	chr16	29825109	29825109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgaggtagcctgagccGccaccccagctcccagttgg	6	6	11	18	2	0	1	0	1	0	0	2	2	2	1	8	2	3	3	8	2	1	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:29825109G>A	ENST00000300797.6	+	2	908	c.734G>A	c.(733-735)cGc>cAc	p.R245H	AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567659.1_Missense_Mutation_p.R245H|PRRT2_ENST00000567551.1_3'UTR|PRRT2_ENST00000358758.7_Missense_Mutation_p.R245H			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	245					response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						AGCCTGAGCCGCCACCCCAGC	0.637													3	55					0	0	0	0	A	29825109	G	A	29825109	3	1	30	1	0	0	0	0	1	0	0	0	12689	1087	38	1	736	1	PRRT2	16	29825109	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	1324482	29825109	60529644	116	6069											
NKD1	85407	broad.mit.edu	37	chr16	50642227	50642227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtgggcgacgtgttgaGagacacgctcagcgaggaag	9	6	17	9	5	1	2	1	1	0	1	2	6	1	3	0	2	1	3	0	2	1	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:50642227G>T	ENST00000268459.3	+	4	439	c.215G>T	c.(214-216)aGa>aTa	p.R72I	RP11-401P9.6_ENST00000379963.1_RNA|NKD1_ENST00000564336.1_3'UTR	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	72					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GACGTGTTGAGAGACACGCTC	0.587													36	84					3.61848e-18	4.30885e-18	1	0	T	50642227	G	T	50642227	3	4	30	1	0	0	0	0	1	0	0	0	10511	942	33	2	229	2	NKD1	16	50642227	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	20817118	50642227	39712526	117	6070											
SMPD3	55512	broad.mit.edu	37	chr16	68405206	68405206	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgggaggccgaggggctGcccaggctccctgaatcccc	5	5	14	17	2	0	1	0	1	0	0	3	3	3	2	6	5	1	2	6	5	1	0			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:68405206G>A	ENST00000219334.5	-	3	1482	c.879C>T	c.(877-879)ggC>ggT	p.G293G	SMPD3_ENST00000563226.1_Silent_p.G293G|SMPD3_ENST00000568373.1_Silent_p.G293G	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	293					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCGAGGGGCTGCCCAGGCTCC	0.697													27	32					0	0	0	0	A	68405206	G	A	68405206	2	1	30	1	0	0	0	0	0	0	0	1	14894	1306	46	4		4	SMPD3	16	68405206	Silent	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	17762979	68405206	21949547	118	6071											
CDH3	1001	broad.mit.edu	37	chr16	68679292	68679292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctctgcagccatggggctcCctcgtggacctctcgcgtct	3	11	11	16	3	3	0	0	0	3	0	7	1	4	1	3	3	2	2	3	3	0	0			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:68679292C>T	ENST00000264012.4	+	1	554	c.10C>T	c.(10-12)Cct>Tct	p.P4S	CDH3_ENST00000581171.1_5'UTR|CDH3_ENST00000429102.2_Missense_Mutation_p.P4S|RP11-615I2.2_ENST00000562172.1_RNA	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	4					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CATGGGGCTCCCTCGTGGACC	0.721													13	16					0	0	0	0	T	68679292	C	T	68679292	3	4	30	1	0	0	0	0	1	0	0	0	3140	623	22	4	12	4	CDH3	16	68679292	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	274086	68679292	21675461	119	6072											
FUK	197258	broad.mit.edu	37	chr16	70507028	70507028	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	accaccaggaggatgggggcGaggccctgcgagcctggcgg	7	3	19	12	3	0	0	0	0	0	0	0	4	0	2	4	7	2	0	4	7	0	0			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:70507028G>C	ENST00000288078.6	+	15	1781	c.1549G>C	c.(1549-1551)Gag>Cag	p.E517Q	FUK_ENST00000571514.1_Missense_Mutation_p.E10Q|FUK_ENST00000378912.2_Missense_Mutation_p.E549Q	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	517						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGATGGGGGCGAGGCCCTGCG	0.716													3	6					0	0	0	0	C	70507028	G	C	70507028	3	2	30	1	0	0	0	0	1	0	0	0	6144	1059	37	3	1603	3	FUK	16	70507028	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	1827736	70507028	19847725	120	6073											
PKD1L2	114780	broad.mit.edu	37	chr16	81232629	81232629	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggtggtggactcggccAgggttatgtcacccaaaagc	8	10	14	9	1	1	0	1	0	0	0	2	1	1	1	2	5	1	1	2	5	3	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:81232629A>C	ENST00000599697.1	-	7	1180	c.1181T>G	c.(1180-1182)cTg>cGg	p.L394R	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	394					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGACTCGGCCAGGGTTATGTC	0.498													26	67					0	0	0	0	C	81232629	A	C	81232629	3	2	30	1	0	0	0	0	1	0	0	0	12037	188	7	5	6415	5	PKD1L2	16	81232629	Missense_Mutation	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08	10725601	81232629	9122124	121	6074											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	6	9	14	12	2	2	0	2	0	0	0	3	0	3	0	3	3	3	2	3	3	1	0			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr17:7578413C>T	ENST00000420246.2	-	5	649	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.V173M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCCTCACAACCTCCGTC	0.662		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	22					0	0	0	0	T	7578413	C	T	7578413	3	4	30	1	0	0	0	0	1	0	0	0	16476	478	17	4	781	4	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08		7578413	73616797	122	6075											
MYO15A	51168	broad.mit.edu	37	chr17	18069767	18069767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctacatgctctggttcCggcgtgtgctctgggatcag	4	11	15	11	3	3	0	1	0	2	0	4	1	4	1	1	4	3	4	1	4	1	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr17:18069767C>T	ENST00000205890.5	+	61	10218	c.9880C>T	c.(9880-9882)Cgg>Tgg	p.R3294W	MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W|MYO15A_ENST00000451725.2_Intron	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3294	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCTGGTTCCGGCGTGTGCT	0.577													42	63					0	0	0	0	T	18069767	C	T	18069767	3	4	30	1	0	0	0	0	1	0	0	0	10133	643	23	1	10114	1	MYO15A	17	18069767	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	10491354	18069767	63125443	123	6076											
NACA2	342538	broad.mit.edu	37	chr17	59668091	59668091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttttcttgaatgtttcCgacagcttcaccttgaactc	7	17	7	10	1	2	2	1	2	1	0	4	3	3	2	2	0	2	3	2	0	2	6	rs148387940	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr17:59668091C>T	ENST00000521764.1	-	1	472	c.451G>A	c.(451-453)Gga>Aga	p.G151R		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	151					protein transport	cytoplasm|nucleus		p.G151*(1)		large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TGAATGTTTCCGACAGCTTCA	0.438													68	148					0	0	0	0	T	59668091	C	T	59668091	3	4	30	1	0	0	0	0	1	0	0	0	10204	661	23	1	200	1	NACA2	17	59668091	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	41598324	59668091	21527119	124	6077											
TCEB3C	162699	broad.mit.edu	37	chr18	44555357	44555357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtcatggcctcaaaagcgGacagcagatcgtagttggcc	11	7	13	10	2	2	1	2	0	0	1	3	2	2	2	2	4	2	3	2	4	3	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr18:44555357G>A	ENST00000330682.2	-	1	1092	c.857C>T	c.(856-858)tCc>tTc	p.S286F	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTCAAAAGCGGACAGCAGATC	0.627													13	463					0	0	0	0	A	44555357	G	A	44555357	3	1	30	1	0	0	0	0	1	0	0	0	15777	1174	41	2	2430	2	TCEB3C	18	44555357	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08		44555357	33521891	125	6078											
MYO5B	4645	broad.mit.edu	37	chr18	47428976	47428976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgacctgctcatcgatCttccgctgcagctggaccac	8	9	8	16	2	2	1	1	1	1	0	4	3	3	2	3	1	3	4	3	1	0	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr18:47428976C>A	ENST00000285039.7	-	21	3098	c.2799G>T	c.(2797-2799)aaG>aaT	p.K933N	MYO5B_ENST00000324581.6_Missense_Mutation_p.K74N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	933					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCTCATCGATCTTCCGCTGCA	0.592													37	46					9.45814e-24	1.13372e-23	1	0	A	47428976	C	A	47428976	3	1	30	1	0	0	0	0	1	0	0	0	10149	912	32	2	2827	2	MYO5B	18	47428976	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	2873619	47428976	30648272	126	6079											
CCDC102B	79839	broad.mit.edu	37	chr18	66678188	66678188	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaattactgaaccttcaAcatgcctactataaactaaa	18	10	4	9	0	1	1	1	1	0	0	1	2	1	2	2	1	6	0	2	1	11	6			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr18:66678188A>T	ENST00000360242.5	+	7	1398	c.1281A>T	c.(1279-1281)caA>caT	p.Q427H	CCDC102B_ENST00000319445.6_Missense_Mutation_p.Q427H|CCDC102B_ENST00000584156.1_Missense_Mutation_p.Q427H	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	427										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGAACCTTCAACATGCCTACT	0.328													9	15					0	0	0	0	T	66678188	A	T	66678188	3	4	30	1	0	0	0	0	1	0	0	0	2762	40	2	5	1303	5	CCDC102B	18	66678188	Missense_Mutation	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08	19249212	66678188	11399060	127	6080											
C19orf66	55337	broad.mit.edu	37	chr19	10202739	10202756	+	Splice_Site	DEL	TCCCTAGAGCCCCACGTG	TCCCTAGAGCCCCACGTG	-																															atgtctgcagcacctctcccTccctagagccccacgtgcct																										TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr19:10202739_10202756delTCCCTAGAGCCCCACGTG	ENST00000397881.3	+	8	967_978	c.490_splice	c.e8-1	p.164_splice	C19orf66_ENST00000591813.1_Splice_Site_p.179_splice|C19orf66_ENST00000253110.11_Splice_Site_p.215_splice			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	215										large_intestine(3)|skin(1)	4						CACCTCTCCCTCCCTAGAGCCCCACGTGCCTGGGACAT	0.638													18	89	---	---	---	---					-	10202756	TCCCTAGAGCCCCACGTG	-	10202739	8	5	30	1	0	1	0	1	0	0	1	0	1964	1566	54	0		0	C19orf66	19	10202739	Splice_Site	DEL	TCCCTAGAGCCCCACGTG	TCGA-BA-A6DE-01A-22D-A31L-08		10202739	48926244	128	6081											
ZNF136	7695	broad.mit.edu	37	chr19	12297828	12297828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgattatcccagtagatttcGaacacatgaaagaagtcaca	16	10	7	8	1	1	4	1	2	0	2	3	5	2	4	1	0	1	1	1	0	5	3			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr19:12297828G>A	ENST00000343979.4	+	4	775	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	ZNF136_ENST00000398616.2_Missense_Mutation_p.R146Q	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	212					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AGTAGATTTCGAACACATGAA	0.383													17	31					0	0	0	0	A	12297828	G	A	12297828	3	1	30	1	0	0	0	0	1	0	0	0	17821	1058	37	1	649	1	ZNF136	19	12297828	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	2095089	12297828	46831155	129	6082											
ZNF507	22847	broad.mit.edu	37	chr19	32844500	32844500	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgatgcttgttttgtagttAtacttgtggccagcagagaa	9	15	11	6	1	0	1	0	0	0	1	1	3	0	1	1	1	3	5	1	1	4	7			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr19:32844500A>G	ENST00000311921.3	+	2	956	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	ZNF507_ENST00000355898.5_Missense_Mutation_p.Y255C|ZNF507_ENST00000544431.1_Missense_Mutation_p.Y255C|ZNF507_ENST00000587084.1_3'UTR	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTTTGTAGTTATACTTGTGGC	0.433													29	83					0	0	0	0	G	32844500	A	G	32844500	3	3	30	1	0	0	0	0	1	0	0	0	18048	449	16	5	766	5	ZNF507	19	32844500	Missense_Mutation	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08	20546672	32844500	26284483	130	6083											
PAPL	390928	broad.mit.edu	37	chr19	39589756	39589756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgcagggacacccagcaggGcatgtatgacgccgttctcc	8	6	13	14	3	1	1	0	1	1	0	2	2	1	2	3	2	1	5	3	2	1	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr19:39589756G>A	ENST00000331256.5	+	4	753	c.479G>A	c.(478-480)gGc>gAc	p.G160D	PAPL_ENST00000594229.1_Missense_Mutation_p.G160D	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		160						extracellular region	acid phosphatase activity|metal ion binding										ACCCAGCAGGGCATGTATGAC	0.716													29	75					0	0	0	0	A	39589756	G	A	39589756	3	1	30	1	0	0	0	0	1	0	0	0	11498	1203	42	4	489	4	PAPL	19	39589756	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	6745256	39589756	19539227	131	6084											
IRGC	56269	broad.mit.edu	37	chr19	44223568	44223568	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggtcccagggctggcGgccgcctacgatgatgcgtt	4	8	15	14	5	0	1	0	1	0	0	1	2	1	1	4	4	3	2	4	4	1	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr19:44223568G>A	ENST00000244314.5	+	2	1057	c.858G>A	c.(856-858)gcG>gcA	p.A286A		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	286						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CAGGGCTGGCGGCCGCCTACG	0.637													35	69					0	0	0	0	A	44223568	G	A	44223568	2	1	30	1	0	0	0	0	0	0	0	1	7891	1103	39	1		1	IRGC	19	44223568	Silent	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	4633812	44223568	14905415	132	6085											
SNRPB2	6629	broad.mit.edu	37	chr20	16717971	16717971	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtggaacttttgctgacaaAgaaaagaaaaaagaaaagaa	22	6	9	4	1	0	5	0	1	0	4	0	6	0	6	0	1	2	1	0	1	10	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr20:16717971A>G	ENST00000246071.6	+	4	519	c.303A>G	c.(301-303)aaA>aaG	p.K101K	SNRPB2_ENST00000377943.5_Silent_p.K101K	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	101						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						TTGCTGACaaagaaaagaaaa	0.348													16	55					0	0	0	0	G	16717971	A	G	16717971	2	3	30	1	0	0	0	0	0	0	0	1	14950	69	3	5		5	SNRPB2	20	16717971	Silent	SNP	A	TCGA-BA-A6DE-01A-22D-A31L-08		16717971	46307549	133	6086											
WFDC3	140686	broad.mit.edu	37	chr20	44405772	44405772	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcagcatttatgcccCtggggacaggatgcatcccc	7	9	12	13	0	0	0	0	0	0	0	1	2	1	2	4	3	5	4	4	3	1	2			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr20:44405772C>G	ENST00000243938.4	-	5	518	c.435G>C	c.(433-435)caG>caC	p.Q145H	WFDC3_ENST00000372632.2_Intron|WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000481847.1_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	145	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				ATTTATGCCCCTGGGGACAGG	0.552													5	58					0	0	0	0	G	44405772	C	G	44405772	3	3	30	1	0	0	0	0	1	0	0	0	17449	680	24	4	272	4	WFDC3	20	44405772	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	27687801	44405772	18619748	134	6087											
CD40	958	broad.mit.edu	37	chr20	44751298	44751298	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcagaaacagacaccatCtgcacctgtgaagaaggctg	14	6	9	12	0	2	4	1	1	1	3	2	4	2	4	3	1	2	2	3	1	3	0			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr20:44751298C>G	ENST00000372285.3	+	4	378	c.306C>G	c.(304-306)atC>atG	p.I102M	CD40_ENST00000372276.3_Missense_Mutation_p.I102M|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	102					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CAGACACCATCTGCACCTGTG	0.592									Immune Deficiency with Hyper-IgM				34	79					0	0	0	0	G	44751298	C	G	44751298	3	3	30	1	0	0	0	0	1	0	0	0	3044	903	32	2	320	2	CD40	20	44751298	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	345526	44751298	18274222	135	6088											
SRMS	6725	broad.mit.edu	37	chr20	62173919	62173919	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtggccgctcccacacgtCctgcctcggggccttctgca	3	9	12	17	3	1	0	0	0	1	0	4	0	3	0	5	3	2	2	5	3	0	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr20:62173919C>A	ENST00000217188.1	-	4	701	c.661G>T	c.(661-663)Gac>Tac	p.D221Y		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	221							ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TCCCACACGTCCTGCCTCGGG	0.692													21	34					6.44725e-10	7.07244e-10	1	0	A	62173919	C	A	62173919	3	1	30	1	0	0	0	0	1	0	0	0	15242	855	30	2	825	2	SRMS	20	62173919	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08	17422621	62173919	851601	136	6089											
MYO18B	84700	broad.mit.edu	37	chr22	26423285	26423285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacttcctcccagctatcCggaagccccagacacctacc	10	7	6	18	1	0	2	0	1	0	1	3	3	3	3	7	1	3	1	7	1	3	3	rs149103381	by1000genomes	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr22:26423285C>T	ENST00000335473.7	+	43	7595	c.7345C>T	c.(7345-7347)Cgg>Tgg	p.R2449W	MYO18B_ENST00000407587.2_Missense_Mutation_p.R2450W|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2449W	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2449						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCAGCTATCCGGAAGCCCCA	0.552													11	176					0	0	0	0	T	26423285	C	T	26423285	3	4	30	1	0	0	0	0	1	0	0	0	10136	643	23	1	7511	1	MYO18B	22	26423285	Missense_Mutation	SNP	C	TCGA-BA-A6DE-01A-22D-A31L-08		26423285	24881281	137	6090											
KDM6A	7403	broad.mit.edu	37	chrX	44922770	44922770	+	Frame_Shift_Del	DEL	A	A	-																															agtctctggccagcagccacAgcttgctctgaccagagtgc																										TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chrX:44922770delA	ENST00000377967.4	+	16	1672	c.1631delA	c.(1630-1632)cgfs	p.Q544fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.Q551fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.Q465fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.Q499fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	544					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAGCAGCCACAGCTTGCTCTG	0.562			"D, N, F, S"		"renal, oesophageal SCC, MM"								32	28	---	---	---	---					-	44922770	A	-	44922770	7	5	30	1	0	1	0	1	0	0	0	0	8189	188	7	0	1693	0	KDM6A	23	44922770	Frame_Shift_Del	DEL	A	TCGA-BA-A6DE-01A-22D-A31L-08		44922770	110347790	138	6091											
ZMAT1	84460	broad.mit.edu	37	chrX	101139765	101139765	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgtgtcttccttgaatTcttcactagattgataacaa	10	17	6	8	0	4	3	1	2	3	1	5	3	5	3	1	0	1	0	1	0	4	8			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chrX:101139765T>A	ENST00000372782.3	-	7	681	c.634A>T	c.(634-636)Aat>Tat	p.N212Y	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.N212Y|ZMAT1_ENST00000458570.1_Missense_Mutation_p.N41Y	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	41						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCCTTGAATTCTTCACTAGA	0.313													16	93					0	0	0	0	A	101139765	T	A	101139765	3	1	30	1	0	0	0	0	1	0	0	0	17786	1783	62	5	1286	5	ZMAT1	23	101139765	Missense_Mutation	SNP	T	TCGA-BA-A6DE-01A-22D-A31L-08	56216995	101139765	54130795	139	6092											
MAGEC3	139081	broad.mit.edu	37	chrX	140984944	140984944	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgagttggtgcagtttcTtctcctcaaatatcaaacaa	11	13	8	9	0	4	1	2	1	2	0	5	1	4	1	1	2	2	4	1	2	4	4			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chrX:140984944T>G	ENST00000298296.1	+	7	1400	c.1400T>G	c.(1399-1401)cTt>cGt	p.L467R	MAGEC3_ENST00000536088.1_Missense_Mutation_p.L169R|MAGEC3_ENST00000544766.1_Missense_Mutation_p.L169R|MAGEC3_ENST00000443323.2_Missense_Mutation_p.L89R|MAGEC3_ENST00000409007.1_Missense_Mutation_p.L169R	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	467	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCAGTTTCTTCTCCTCAAA	0.458													19	49					0	0	0	0	G	140984944	T	G	140984944	3	3	30	1	0	0	0	0	1	0	0	0	9251	1609	56	5	1655	5	MAGEC3	23	140984944	Missense_Mutation	SNP	T	TCGA-BA-A6DE-01A-22D-A31L-08	39845179	140984944	14285616	140	6093											
PLXNA3	55558	broad.mit.edu	37	chrX	153688920	153688920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgacctcttcaagctgggtGagccgcaccaccgcaaggag	10	5	12	14	3	2	1	1	1	1	0	2	3	2	2	4	2	2	3	4	2	2	1			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chrX:153688920G>A	ENST00000369682.3	+	2	572	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	133	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGCTGGGTGAGCCGCACCA	0.662													58	45					0	0	0	0	A	153688920	G	A	153688920	3	1	30	1	0	0	0	0	1	0	0	0	12193	1291	45	2	399	2	PLXNA3	23	153688920	Missense_Mutation	SNP	G	TCGA-BA-A6DE-01A-22D-A31L-08	12703976	153688920	1581640	141	6094											
ASAP3	55616	broad.mit.edu	37	chr1	23759684	23759684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgctcccaggctggCgacagtctcataggtcttgt	5	11	14	11	1	2	0	1	0	2	0	4	1	3	0	1	5	1	3	1	5	1	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:23759684C>T	ENST00000336689.3	-	22	2253	c.2209G>A	c.(2209-2211)Gcc>Acc	p.A737T	ASAP3_ENST00000495646.1_Missense_Mutation_p.A241T|ASAP3_ENST00000437606.2_Missense_Mutation_p.A728T|ASAP3_ENST00000484906.1_5'UTR	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	737					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CCCAGGCTGGCGACAGTCTCA	0.607													4	122					0	0	0	0	T	23759684	C	T	23759684	3	4	31	1	0	0	0	0	1	0	0	0	1016	768	27	1	518	1	ASAP3	1	23759684	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08		23759684	225490937	1	6095											
TIE1	7075	broad.mit.edu	37	chr1	43772858	43772858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtaccaaggagtgccCaggttgcctacatggaggtg	9	8	15	9	0	0	0	0	0	0	0	0	2	0	2	3	5	4	3	3	5	3	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:43772858C>A	ENST00000372476.3	+	5	765	c.686C>A	c.(685-687)cCa>cAa	p.P229Q	TIE1_ENST00000441333.2_Missense_Mutation_p.P229Q|TIE1_ENST00000538015.1_Missense_Mutation_p.P229Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	229	EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P229Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AAGGAGTGCCCAGGTTGCCTA	0.632													40	66					1.59361e-14	1.83753e-14	1	0	A	43772858	C	A	43772858	3	1	31	1	0	0	0	0	1	0	0	0	15987	594	21	4	704	4	TIE1	1	43772858	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	20013174	43772858	205477763	2	6096											
HECTD3	79654	broad.mit.edu	37	chr1	45473174	45473174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcggttgatgtataggcgtgGcatgaagctgggcttgctgc	6	11	17	7	2	0	2	0	2	0	0	0	2	0	2	0	4	3	6	0	4	3	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:45473174G>T	ENST00000372172.4	-	10	1485	c.1414C>A	c.(1414-1416)Cca>Aca	p.P472T	HECTD3_ENST00000372168.3_Missense_Mutation_p.P82T	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	472					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TATAGGCGTGGCATGAAGCTG	0.607													5	115					0.00116845	0.00120579	1	0	T	45473174	G	T	45473174	3	4	31	1	0	0	0	0	1	0	0	0	7091	1203	42	4	1219	4	HECTD3	1	45473174	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	1700316	45473174	203777447	3	6097											
LRRC42	115353	broad.mit.edu	37	chr1	54426145	54426145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctaacattattagacttatCatgtaagttttcttcgaaat	13	18	4	6	1	3	1	1	0	2	1	4	2	3	1	0	0	1	2	0	0	6	8			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:54426145C>T	ENST00000371370.3	+	5	1243	c.722C>T	c.(721-723)tCa>tTa	p.S241L	LRRC42_ENST00000319223.4_Missense_Mutation_p.S241L	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	241										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TTAGACTTATCATGTAAGTTT	0.363													34	41					0	0	0	0	T	54426145	C	T	54426145	3	4	31	1	0	0	0	0	1	0	0	0	9064	838	29	2	732	2	LRRC42	1	54426145	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	8952971	54426145	194824476	4	6098											
AK5	26289	broad.mit.edu	37	chr1	77752659	77752659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactgatgtgttctaagcccGaagatccagtagaatacttg	12	11	10	8	1	1	3	0	1	1	2	2	5	2	3	2	0	2	2	2	0	5	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:77752659G>A	ENST00000344720.5	+	2	1042	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.E32K	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	32					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTCTAAGCCCGAAGATCCAGT	0.333													11	63					0	0	0	0	A	77752659	G	A	77752659	3	1	31	1	0	0	0	0	1	0	0	0	443	1059	37	1	100	1	AK5	1	77752659	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	23326514	77752659	171497962	5	6099											
ATP1A1	476	broad.mit.edu	37	chr1	116941554	116941554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatcttggttttcataggtCgtctgatctttgataacttg	9	18	8	6	1	4	2	1	2	3	0	5	2	4	2	0	2	1	1	0	2	3	7			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:116941554C>T	ENST00000537345.1	+	17	2659	c.2296C>T	c.(2296-2298)Cgt>Tgt	p.R766C	ATP1A1_ENST00000369496.4_Missense_Mutation_p.R735C|ATP1A1_ENST00000295598.5_Missense_Mutation_p.R766C	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	766					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TTTCATAGGTCGTCTGATCTT	0.373													8	141					0	0	0	0	T	116941554	C	T	116941554	3	4	31	1	0	0	0	0	1	0	0	0	1132	884	31	1	2378	1	ATP1A1	1	116941554	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	39188895	116941554	132309067	6	6100											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273243	145273243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacccctgtgagaagaacCgctgccagaatggtgggact	11	6	14	10	1	0	4	0	1	0	4	0	7	0	5	4	2	2	1	4	2	3	0			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:145273243C>T	ENST00000369340.3	+	4	541	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.R33C|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.R33C|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.R33C			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	33	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGAGAAGAACCGCTGCCAGAA	0.532													5	224					0	0	0	0	T	145273243	C	T	145273243	3	4	31	1	0	0	0	0	1	0	0	0	10619	652	23	1	103	1	NOTCH2NL	1	145273243	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	28331689	145273243	103977378	7	6101											
C1orf56	54964	broad.mit.edu	37	chr1	151021108	151021110	+	In_Frame_Del	DEL	GCC	GCC	-																															caaccgacttcgggaagagtGccccctggacacaagtctct																										TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:151021108_151021110delGCC	ENST00000368926.5	+	1	893_895	c.785_787delGCC	c.(784-789)tcc>t	p.CP262del	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	262						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGGAAGAGTGCCCCCTGGACAC	0.601											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	84	137	---	---	---	---					-	151021110	GCC	-	151021108	7	5	31	1	0	1	0	1	0	0	0	0	2068	1319	46	0	787	0	C1orf56	1	151021108	In_Frame_Del	DEL	GCC	TCGA-BA-A6DF-01A-11D-A30E-08	5747865	151021108	98229513	8	6102											
FLG	2312	broad.mit.edu	37	chr1	152276245	152276245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtagaggaaagaccctgaaCgtccagaccttcctgctgac	11	7	11	12	1	0	5	0	2	0	3	2	6	2	6	4	2	2	2	4	2	3	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:152276245C>T	ENST00000368799.1	-	3	11152	c.11117G>A	c.(11116-11118)cGt>cAt	p.R3706H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3706	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCTGAACGTCCAGACCT	0.607									Ichthyosis				101	226					0	0	0	0	T	152276245	C	T	152276245	3	4	31	1	0	0	0	0	1	0	0	0	5967	536	19	1	1072	1	FLG	1	152276245	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	1255137	152276245	96974376	9	6103											
FLG	2312	broad.mit.edu	37	chr1	152284654	152284654	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagtgcctggagccgtctCttgattgttcctcattacgt	5	15	10	11	2	2	2	1	2	1	0	4	3	3	3	3	1	3	1	3	1	1	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:152284654C>G	ENST00000368799.1	-	3	2743	c.2708G>C	c.(2707-2709)aGa>aCa	p.R903T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	903	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCGTCTCTTGATTGTTC	0.562									Ichthyosis				215	442					0	0	0	0	G	152284654	C	G	152284654	3	3	31	1	0	0	0	0	1	0	0	0	5967	913	32	2	9481	2	FLG	1	152284654	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	8409	152284654	96965967	10	6104											
FLG	2312	broad.mit.edu	37	chr1	152284667	152284667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgtctcttgattgttcctCattacgtgttgttctgcttg	3	19	9	10	2	3	1	1	1	2	0	5	1	4	1	2	0	2	4	2	0	1	7			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:152284667C>G	ENST00000368799.1	-	3	2730	c.2695G>C	c.(2695-2697)Gag>Cag	p.E899Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	899	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTCCTCATTACGTGTT	0.562									Ichthyosis				214	455					0	0	0	0	G	152284667	C	G	152284667	3	3	31	1	0	0	0	0	1	0	0	0	5967	835	29	2	9494	2	FLG	1	152284667	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	13	152284667	96965954	11	6105											
ARHGEF2	9181	broad.mit.edu	37	chr1	155920659	155920659	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtacagggcatcgcctgcGgggaggctgcgccgccgagg	7	4	18	12	5	0	0	0	0	0	0	1	2	0	1	3	5	3	3	3	5	2	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:155920659G>A	ENST00000368316.1	-	24	3050	c.2580C>T	c.(2578-2580)ccC>ccT	p.P860P	ARHGEF2_ENST00000313667.4_Silent_p.P887P|ARHGEF2_ENST00000368315.3_Silent_p.P889P|ARHGEF2_ENST00000361247.4_Silent_p.P888P|ARHGEF2_ENST00000313695.7_Silent_p.P860P			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	888					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CATCGCCTGCGGGGAGGCTGC	0.672													42	53					0	0	0	0	A	155920659	G	A	155920659	2	1	31	1	0	0	0	0	0	0	0	1	905	1103	39	1		1	ARHGEF2	1	155920659	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	3635992	155920659	93329962	12	6106											
NME7	29922	broad.mit.edu	37	chr1	169200024	169200024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgaatctccattgctaCacaagggccagaatacattt	12	12	7	10	0	1	2	0	1	1	1	2	2	1	2	2	1	3	2	2	1	5	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:169200024C>T	ENST00000367811.3	-	10	1178	c.922G>A	c.(922-924)Gta>Ata	p.V308I	NME7_ENST00000472647.1_Missense_Mutation_p.V272I	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	308					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TCCATTGCTACACAAGGGCCA	0.308													14	25					0	0	0	0	T	169200024	C	T	169200024	3	4	31	1	0	0	0	0	1	0	0	0	10566	478	17	4	220	4	NME7	1	169200024	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	13279365	169200024	80050597	13	6107											
TOR3A	64222	broad.mit.edu	37	chr1	179055002	179055002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccacgttccactttcctCaccccaaatatgtggacctg	8	11	6	16	2	1	0	1	0	0	0	4	1	3	1	6	1	0	1	6	1	2	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:179055002C>A	ENST00000367627.3	+	3	1365	c.613C>A	c.(613-615)Cac>Aac	p.H205N	TOR3A_ENST00000352445.6_Missense_Mutation_p.H205N|TOR3A_ENST00000495145.1_3'UTR	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	205					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						CCACTTTCCTCACCCCAAATA	0.587													30	31					1.39806e-14	1.62031e-14	1	0	A	179055002	C	A	179055002	3	1	31	1	0	0	0	0	1	0	0	0	16471	826	29	2	623	2	TOR3A	1	179055002	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	9854978	179055002	70195619	14	6108											
MIA3	375056	broad.mit.edu	37	chr1	222802715	222802715	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaggaccagctttcctttCtaaagtagaagaggatgatt	13	11	11	6	0	1	3	0	1	1	2	2	6	2	6	2	3	1	2	2	3	4	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:222802715C>G	ENST00000344922.5	+	4	2178	c.2153C>G	c.(2152-2154)tCt>tGt	p.S718C	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.S718C	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	718					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCTTTCCTTTCTAAAGTAGAA	0.443													9	117					0	0	0	0	G	222802715	C	G	222802715	3	3	31	1	0	0	0	0	1	0	0	0	9634	913	32	2	2167	2	MIA3	1	222802715	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	43747713	222802715	26447906	15	6109											
RYR2	6262	broad.mit.edu	37	chr1	237729889	237729889	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagagccgaagtgtgcagCggcaccggggaaaggttccg	9	4	17	11	4	0	1	0	0	0	1	1	3	1	2	4	4	3	3	4	4	2	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:237729889C>T	ENST00000366574.2	+	28	3554	c.3237C>T	c.(3235-3237)agC>agT	p.S1079S	RYR2_ENST00000542537.1_Silent_p.S1063S|RYR2_ENST00000360064.6_Silent_p.S1077S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1079	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGTGTGCAGCGGCACCGGGG	0.502													22	42					0	0	0	0	T	237729889	C	T	237729889	2	4	31	1	0	0	0	0	0	0	0	1	13854	767	27	1		1	RYR2	1	237729889	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	14927174	237729889	11520732	16	6110											
RYR2	6262	broad.mit.edu	37	chr1	237893651	237893651	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagataaactgatagaagatTtagcagtatgtttttagtgg	15	14	10	2	0	0	4	0	1	0	3	0	4	0	4	0	1	2	3	0	1	8	8			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:237893651T>A	ENST00000366574.2	+	77	11247	c.10930T>A	c.(10930-10932)Tta>Ata	p.L3644I	RYR2_ENST00000542537.1_Missense_Mutation_p.L3628I|RYR2_ENST00000360064.6_Missense_Mutation_p.L3642I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3644					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATAGAAGATTTAGCAGTATG	0.388													13	27					0	0	0	0	A	237893651	T	A	237893651	3	1	31	1	0	0	0	0	1	0	0	0	13854	1838	64	5	11236	5	RYR2	1	237893651	Missense_Mutation	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08	163762	237893651	11356970	17	6111											
KIF26B	55083	broad.mit.edu	37	chr1	245530218	245530218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggaacgaccgggacaaccGctgtgacatttgcgccactc	10	7	11	13	4	0	1	0	1	0	0	1	4	0	3	3	2	3	1	3	2	2	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:245530218G>A	ENST00000407071.2	+	3	988	c.548G>A	c.(547-549)cGc>cAc	p.R183H	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	183					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGGGACAACCGCTGTGACATT	0.582													6	36					0	0	0	0	A	245530218	G	A	245530218	3	1	31	1	0	0	0	0	1	0	0	0	8346	1087	38	1	558	1	KIF26B	1	245530218	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	7636567	245530218	3720403	18	6112											
OR2M5	127059	broad.mit.edu	37	chr1	248308964	248308964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctactgtgggtctcGggaaatagcccacttcttct	6	14	8	13	1	4	0	0	0	4	0	6	1	4	1	2	2	2	0	2	2	3	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:248308964G>A	ENST00000366476.1	+	1	515	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTGGGTCTCGGGAAATAGCC	0.428													5	389					0	0	0	0	A	248308964	G	A	248308964	3	1	31	1	0	0	0	0	1	0	0	0	11084	1116	39	1	517	1	OR2M5	1	248308964	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	2778746	248308964	941657	19	6113											
LPIN1	23175	broad.mit.edu	37	chr2	11924028	11924028	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacatggatcctgaagtggcGgccctgtattttcccaaaaa	11	10	10	10	1	0	1	0	1	0	0	2	3	2	2	3	3	0	1	3	3	4	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:11924028G>A	ENST00000256720.2	+	8	1323	c.1230G>A	c.(1228-1230)gcG>gcA	p.A410A	LPIN1_ENST00000396099.1_Silent_p.A452A|LPIN1_ENST00000396097.1_Silent_p.A140A|LPIN1_ENST00000425416.2_Silent_p.A416A|LPIN1_ENST00000396098.1_Silent_p.A452A|LPIN1_ENST00000449576.2_Silent_p.A495A	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	410					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTGAAGTGGCGGCCCTGTATT	0.428													7	267					0	0	0	0	A	11924028	G	A	11924028	2	1	31	1	0	0	0	0	0	0	0	1	8982	1103	39	1		1	LPIN1	2	11924028	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08		11924028	231275345	20	6114											
DNMT3A	1788	broad.mit.edu	37	chr2	25472552	25472552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acactcgtctttcaggctacGatccacgcgcccattccttc	7	11	6	17	4	2	0	1	0	1	0	6	1	4	0	3	1	1	1	3	1	1	4	rs151168784		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:25472552G>A	ENST00000380746.4	-	2	159	c.46C>T	c.(46-48)Cgt>Tgt	p.R16C	DNMT3A_ENST00000264709.3_Intron|DNMT3A_ENST00000402667.1_Intron|DNMT3A_ENST00000321117.5_Intron	NM_153759.3	NP_715640.2	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	56					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAGGCTACGATCCACGCGC	0.478			"Mis, F, N, S"		AML								5	88					0	0	0	0	A	25472552	G	A	25472552	3	1	31	1	0	0	0	0	1	0	0	0	4712	1058	37	1	2197	1	DNMT3A	2	25472552	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	13548524	25472552	217726821	21	6115											
CAD	790	broad.mit.edu	37	chr2	27459689	27459689	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacctcccaaaagcttgtgCgactgccgggtaagtctttg	8	11	11	11	2	1	1	0	1	1	0	2	2	2	1	3	1	3	2	3	1	3	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:27459689C>T	ENST00000264705.4	+	27	4549	c.4387C>T	c.(4387-4389)Cga>Tga	p.R1463*	CAD_ENST00000403525.1_Nonsense_Mutation_p.R1400*	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1463	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.R1463*(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAAGCTTGTGCGACTGCCGGG	0.572													4	162					0	0	0	0	T	27459689	C	T	27459689	4	4	31	1	0	0	0	0	0	1	0	0	2590	760	27	1	4493	1	CAD	2	27459689	Nonsense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	1987137	27459689	215739684	22	6116											
CAPN13	92291	broad.mit.edu	37	chr2	30976005	30976005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccatggtccagggtaattGgaatttcgctacatataaac	12	13	8	8	1	0	0	0	0	0	0	3	1	2	1	2	3	2	2	2	3	6	7			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:30976005G>T	ENST00000295055.8	-	10	1177	c.1001C>A	c.(1000-1002)cCa>cAa	p.P334Q	CAPN13_ENST00000534090.2_Missense_Mutation_p.P334Q	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	334					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CAGGGTAATTGGAATTTCGCT	0.418													7	214					0.0381472	0.0383168	1	0	T	30976005	G	T	30976005	3	4	31	1	0	0	0	0	1	0	0	0	2651	1348	47	4	1060	4	CAPN13	2	30976005	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	3516316	30976005	212223368	23	6117											
RTN4	57142	broad.mit.edu	37	chr2	55254006	55254006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaagttgctctcgattttaCctccagcagccaacatatca	11	11	5	14	1	2	0	1	0	1	0	4	1	3	0	4	0	5	3	4	0	4	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:55254006C>T	ENST00000337526.6	-	3	1472	c.1229G>A	c.(1228-1230)gGt>gAt	p.G410D	RTN4_ENST00000404909.1_Missense_Mutation_p.G204D|RTN4_ENST00000405240.1_Missense_Mutation_p.G204D|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.G178D|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.G204D|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.G204D	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	410					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CTCGATTTTACCTCCAGCAGC	0.388													7	244					0	0	0	0	T	55254006	C	T	55254006	3	4	31	1	0	0	0	0	1	0	0	0	13813	507	18	4	2415	4	RTN4	2	55254006	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	24278001	55254006	187945367	24	6118											
DYSF	8291	broad.mit.edu	37	chr2	71788949	71788949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagtacctgtaccagctgCgcacccatcacctgagccaa	11	6	7	17	1	1	1	1	1	0	0	1	1	1	1	6	0	5	4	6	0	3	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:71788949C>T	ENST00000258104.3	+	23	2507	c.2230C>T	c.(2230-2232)Cgc>Tgc	p.R744C	DYSF_ENST00000409744.1_Missense_Mutation_p.R731C|DYSF_ENST00000409582.3_Missense_Mutation_p.R761C|DYSF_ENST00000410020.3_Missense_Mutation_p.R762C|DYSF_ENST00000409762.1_Missense_Mutation_p.R761C|DYSF_ENST00000394120.2_Missense_Mutation_p.R745C|DYSF_ENST00000409651.1_Missense_Mutation_p.R776C|DYSF_ENST00000409366.1_Missense_Mutation_p.R745C|DYSF_ENST00000429174.2_Missense_Mutation_p.R744C|DYSF_ENST00000413539.2_Missense_Mutation_p.R775C|DYSF_ENST00000410041.1_Missense_Mutation_p.R762C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	744						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTACCAGCTGCGCACCCATCA	0.627													7	68					0	0	0	0	T	71788949	C	T	71788949	3	4	31	1	0	0	0	0	1	0	0	0	4895	768	27	1	2512	1	DYSF	2	71788949	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	16534943	71788949	171410424	25	6119											
MRPL19	9801	broad.mit.edu	37	chr2	75879657	75879657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaatttgtaggaagtattCttcgtgttactacagctgac	10	16	9	6	1	1	2	0	2	1	0	2	3	1	3	0	1	3	4	0	1	6	8			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:75879657C>T	ENST00000393909.2	+	4	374	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F	MRPL19_ENST00000409374.1_Missense_Mutation_p.L117F|MRPL19_ENST00000358788.6_Missense_Mutation_p.L117F	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	117					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						AGGAAGTATTCTTCGTGTTAC	0.383													4	105					0	0	0	0	T	75879657	C	T	75879657	3	4	31	1	0	0	0	0	1	0	0	0	9854	913	32	2	363	2	MRPL19	2	75879657	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	4090708	75879657	167319716	26	6120											
TTN	7273	broad.mit.edu	37	chr2	179604390	179604390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcagatatttagattcaaCttctggttcagtaatgggtt	11	16	9	5	0	4	2	3	0	1	2	4	3	4	2	0	2	1	3	0	2	4	8			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:179604390C>G	ENST00000589042.1	-	48	13794	c.13570G>C	c.(13570-13572)Gtt>Ctt	p.V4524L	TTN_ENST00000591111.1_Missense_Mutation_p.V4207L|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.V4353L|TTN_ENST00000359218.5_Missense_Mutation_p.V4286L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4161L|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4207	Ig-like 25.						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)			TTAGATTCAACTTCTGGTTCA	0.398													7	121					0	0	0	0	G	179604390	C	G	179604390	3	3	31	1	0	0	0	0	1	0	0	0	16831	565	20	4	91219	4	TTN	2	179604390	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	103724733	179604390	63594983	27	6121											
ORMDL1	94101	broad.mit.edu	37	chr2	190636519	190636519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttattaattccaaagatccGaacaccatgtagttgtggca	13	12	7	9	1	0	1	0	0	0	1	2	2	2	1	3	1	1	3	3	1	5	5	rs149214557	by1000genomes	TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:190636519G>A	ENST00000325795.3	-	3	1222	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ORMDL1_ENST00000392350.3_Missense_Mutation_p.R146W|ORMDL1_ENST00000392349.4_Missense_Mutation_p.R146W|ORMDL1_ENST00000496543.1_5'UTR			Q9P0S3	ORML1_HUMAN	ORM1-like 1 (S. cerevisiae)	146					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			CCAAAGATCCGAACACCATGT	0.353													11	45					0	0	0	0	A	190636519	G	A	190636519	3	1	31	1	0	0	0	0	1	0	0	0	11340	1057	37	1	29	1	ORMDL1	2	190636519	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	11032129	190636519	52562854	28	6122											
CYP27A1	1593	broad.mit.edu	37	chr2	219674325	219674325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaggccaagtacggtcCaatgtggatgtcctacttag	11	11	10	9	1	0	0	0	0	0	0	2	1	2	1	3	3	3	1	3	3	7	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:219674325C>T	ENST00000258415.4	+	2	708	c.281C>T	c.(280-282)cCa>cTa	p.P94L		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	94					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	AAGTACGGTCCAATGTGGATG	0.557													32	57					0	0	0	0	T	219674325	C	T	219674325	3	4	31	1	0	0	0	0	1	0	0	0	4190	594	21	4	287	4	CYP27A1	2	219674325	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	29037806	219674325	23525048	29	6123											
WNT6	7475	broad.mit.edu	37	chr2	219735804	219735804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctgcaggaaggcacggCggctggccgggcggcaggcc	6	3	19	13	4	1	0	0	0	1	0	1	1	1	1	2	8	1	5	2	8	1	0			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:219735804C>T	ENST00000233948.3	+	2	353	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	46					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.R46W(1)		large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGGCACGGCGGCTGGCCGG	0.652													26	64					0	0	0	0	T	219735804	C	T	219735804	3	4	31	1	0	0	0	0	1	0	0	0	17489	759	27	1	142	1	WNT6	2	219735804	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	61479	219735804	23463569	30	6124											
ANKZF1	55139	broad.mit.edu	37	chr2	220100549	220100549	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggagcaggaggagcgTgaacgagaagagcagcggcg	13	1	19	8	4	0	3	0	1	0	2	0	7	0	6	0	4	6	3	0	4	2	0			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:220100549T>A	ENST00000323348.5	+	12	2097	c.1923T>A	c.(1921-1923)cgT>cgA	p.R641R	ANKZF1_ENST00000409849.1_Silent_p.R431R|ANKZF1_ENST00000410034.3_Silent_p.R641R	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	641						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGGAGCGTGAACGAGAAG	0.612													5	178					0	0	0	0	A	220100549	T	A	220100549	2	1	31	1	0	0	0	0	0	0	0	1	692	1683	59	5		5	ANKZF1	2	220100549	Silent	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08	364745	220100549	23098824	31	6125											
IQSEC1	9922	broad.mit.edu	37	chr3	12977263	12977263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcaactcaggctcctccCgggggaggctcttgggggcg	4	6	17	14	3	2	0	1	0	1	0	4	1	4	1	3	6	1	3	3	6	1	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:12977263C>T	ENST00000273221.4	-	3	1511	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	432					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGCTCCTCCCGGGGGAGGCT	0.682													5	22					0	0	0	0	T	12977263	C	T	12977263	3	4	31	1	0	0	0	0	1	0	0	0	7870	652	23	1	2189	1	IQSEC1	3	12977263	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08		12977263	185045167	32	6126											
SCAP	22937	broad.mit.edu	37	chr3	47468956	47468956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgagtgtggctgaagtCtgcagggttttaggctcgtg	5	14	15	7	1	1	2	0	2	1	0	2	2	1	2	1	3	1	4	1	3	2	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:47468956C>A	ENST00000265565.5	-	5	1024	c.612G>T	c.(610-612)caG>caT	p.Q204H	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	204					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	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi 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)		TGGCTGAAGTCTGCAGGGTTT	0.522													40	122					7.53189e-24	8.91208e-24	1	0	A	47468956	C	A	47468956	3	1	31	1	0	0	0	0	1	0	0	0	13963	912	32	2	3303	2	SCAP	3	47468956	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	34491693	47468956	150553474	33	6127											
BSN	8927	broad.mit.edu	37	chr3	49698235	49698235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagttgggtatcacacaacGcaaagagtctttggccaaag	13	8	12	8	1	2	1	1	0	1	1	2	2	2	2	1	3	1	3	1	3	4	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:49698235G>A	ENST00000296452.4	+	6	9071	c.8957G>A	c.(8956-8958)cGc>cAc	p.R2986H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2986					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATCACACAACGCAAAGAGTCT	0.557													15	33					0	0	0	0	A	49698235	G	A	49698235	3	1	31	1	0	0	0	0	1	0	0	0	1538	1087	38	1	8979	1	BSN	3	49698235	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	2229279	49698235	148324195	34	6128											
RAD54L2	23132	broad.mit.edu	37	chr3	51679077	51679077	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatctgattggtgccaacCgagtggtggtgtttgatgct	7	14	14	6	1	1	3	0	3	1	0	1	4	1	3	2	3	3	2	2	3	2	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:51679077C>T	ENST00000409535.1	+	16	2613	c.2488C>T	c.(2488-2490)Cga>Tga	p.R830*	RAD54L2_ENST00000296477.3_Nonsense_Mutation_p.R524*	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	830	Helicase C-terminal.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGGTGCCAACCGAGTGGTGGT	0.463													10	69					0	0	0	0	T	51679077	C	T	51679077	4	4	31	1	0	0	0	0	0	1	0	0	13076	644	23	1	2546	1	RAD54L2	3	51679077	Nonsense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	1980842	51679077	146343353	35	6129											
ACOX2	8309	broad.mit.edu	37	chr3	58494664	58494664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcccactggaacaggcgttCgtagacgtttccatcataac	11	9	9	12	3	1	1	1	0	0	1	3	2	2	2	2	2	3	3	2	2	3	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:58494664C>T	ENST00000302819.5	-	14	2230	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.E633K	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	647					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AACAGGCGTTCGTAGACGTTT	0.433													13	77					0	0	0	0	T	58494664	C	T	58494664	3	4	31	1	0	0	0	0	1	0	0	0	159	893	31	1	114	1	ACOX2	3	58494664	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	6815587	58494664	139527766	36	6130											
GOLGB1	2804	broad.mit.edu	37	chr3	121411412	121411412	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccttggactcccaaatctGcttgtcatgttcaagcctga	8	12	9	12	0	3	1	2	1	1	0	4	2	4	2	3	2	2	2	3	2	2	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:121411412G>A	ENST00000393667.3	-	14	6909	c.6799C>T	c.(6799-6801)Cag>Tag	p.Q2267*	GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.Q2262*	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2262					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCCCAAATCTGCTTGTCATGT	0.423													9	62					0	0	0	0	A	121411412	G	A	121411412	4	1	31	1	0	0	0	0	0	1	0	0	6613	1328	46	4	3031	4	GOLGB1	3	121411412	Nonsense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	62916748	121411412	76611018	37	6131											
PLXNA1	5361	broad.mit.edu	37	chr3	126708286	126708286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcacgtccaagatcgtgCggctctgtgtggacgacccc	6	10	11	14	4	3	1	1	0	2	1	5	3	4	2	3	2	1	1	3	2	1	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:126708286C>T	ENST00000393409.2	+	1	850	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R261W	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	284	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAAGATCGTGCGGCTCTGTGT	0.602													5	221					0	0	0	0	T	126708286	C	T	126708286	3	4	31	1	0	0	0	0	1	0	0	0	12191	759	27	1	852	1	PLXNA1	3	126708286	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	5296874	126708286	71314144	38	6132											
GATA2	2624	broad.mit.edu	37	chr3	128200786	128200786	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccggctcttctggcggccGactgggagggcaaggcagcg	5	6	18	12	4	2	0	0	0	2	0	2	2	2	1	2	6	2	3	2	6	1	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:128200786G>A	ENST00000341105.2	-	5	1350	c.1017_splice	c.e5-1	p.S340_splice	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Splice_Site_p.S340_splice|GATA2_ENST00000430265.2_Intron	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	340					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TCTGGCGGCCGACTGGGAGGG	0.657			Mis		AML(CML blast transformation)								8	59					0	0	0	0	A	128200786	G	A	128200786	5	1	31	1	0	0	0	0	0	0	1	0	6303	1072	37	1	431	1	GATA2	3	128200786	Splice_Site	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	1492500	128200786	69821644	39	6133											
COL6A6	131873	broad.mit.edu	37	chr3	130284217	130284217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgagattcagaagacaaCgtgacaaaagcagctgttaa	17	6	9	9	2	1	4	1	1	0	3	1	5	1	4	1	0	3	3	1	0	5	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:130284217C>A	ENST00000358511.6	+	3	1072	c.1041C>A	c.(1039-1041)aaC>aaA	p.N347K	COL6A6_ENST00000453409.2_Missense_Mutation_p.N347K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	347	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGAAGACAACGTGACAAAAG	0.557													34	219					2.87052e-16	3.34401e-16	1	0	A	130284217	C	A	130284217	3	1	31	1	0	0	0	0	1	0	0	0	3733	535	19	3	1051	3	COL6A6	3	130284217	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	2083431	130284217	67738213	40	6134											
CPNE4	131034	broad.mit.edu	37	chr3	131283145	131283145	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggatgtagtgcaaggAacagctgttcctggggtccc	8	9	16	8	0	0	0	0	0	0	0	2	2	2	2	2	5	3	4	2	5	3	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:131283145A>G	ENST00000512055.1	-	15	3102	c.976T>C	c.(976-978)Tcc>Ccc	p.S326P	CPNE4_ENST00000511604.1_Missense_Mutation_p.S326P|CPNE4_ENST00000429747.1_Missense_Mutation_p.S326P|CPNE4_ENST00000502818.1_Missense_Mutation_p.S344P|CPNE4_ENST00000512332.1_Missense_Mutation_p.S344P			Q96A23	CPNE4_HUMAN	copine IV	326	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TAGTGCAAGGAACAGCTGTTC	0.443													18	75					0	0	0	0	G	131283145	A	G	131283145	3	3	31	1	0	0	0	0	1	0	0	0	3844	246	9	5	721	5	CPNE4	3	131283145	Missense_Mutation	SNP	A	TCGA-BA-A6DF-01A-11D-A30E-08	998928	131283145	66739285	41	6135											
PIK3CA	5290	broad.mit.edu	37	chr3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaacaggagaagaaggatGaaacacaaaaggtgtgtgac	19	5	12	5	0	1	4	1	2	0	2	1	6	1	5	0	3	2	0	0	3	6	0			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E726K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAGAAGGATGAAACACAAAA	0.428		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	64					0	0	0	0	A	178938934	G	A	178938934	3	1	31	1	0	0	0	0	1	0	0	0	11985	1291	45	2	2226	2	PIK3CA	3	178938934	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	47655789	178938934	19083496	42	6136											
CRYGS	1427	broad.mit.edu	37	chr3	186257301	186257301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactttaatggagttgcagCgacttaggtatgtgtggaaa	11	12	12	6	1	0	0	0	0	0	0	0	3	0	2	1	3	2	3	1	3	4	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:186257301C>T	ENST00000392499.2	-	3	446	c.107G>A	c.(106-108)cGc>cAc	p.R36H	CRYGS_ENST00000307944.5_Missense_Mutation_p.R36H	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	36	Beta/gamma crystallin 'Greek key' 1.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		GGAGTTGCAGCGACTTAGGTA	0.463													14	75					0	0	0	0	T	186257301	C	T	186257301	3	4	31	1	0	0	0	0	1	0	0	0	3949	768	27	1	437	1	CRYGS	3	186257301	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	7318367	186257301	11765129	43	6137											
WHSC1	7468	broad.mit.edu	37	chr4	1957799	1957799	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaattccctgtgttttTctttgggtctaaagattatt	8	19	9	5	0	2	2	0	0	2	2	3	3	3	2	1	2	0	1	1	2	4	7			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:1957799T>G	ENST00000382895.3	+	17	3196	c.2765T>G	c.(2764-2766)tTc>tGc	p.F922C	WHSC1_ENST00000508803.1_Missense_Mutation_p.F922C|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.F270C|WHSC1_ENST00000382891.5_Missense_Mutation_p.F922C|WHSC1_ENST00000382892.2_Missense_Mutation_p.F922C	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	922	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCTGTGTTTTTCTTTGGGTCT	0.498			T	IGH@	MM								70	395					0	0	0	0	G	1957799	T	G	1957799	3	3	31	1	0	0	0	0	1	0	0	0	17458	1783	62	5	2895	5	WHSC1	4	1957799	Missense_Mutation	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08		1957799	189196477	44	6138											
KIT	3815	broad.mit.edu	37	chr4	55598102	55598102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgagttggccctagacttaGaagacttgctgagcttttct	9	13	10	9	1	1	4	0	1	1	3	1	5	1	4	1	1	2	3	1	1	3	6			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:55598102G>A	ENST00000288135.5	+	16	2396	c.2299G>A	c.(2299-2301)Gaa>Aaa	p.E767K		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	767	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTAGACTTAGAAGACTTGCT	0.453		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				20	84					0	0	0	0	A	55598102	G	A	55598102	3	1	31	1	0	0	0	0	1	0	0	0	8381	943	33	2	2361	2	KIT	4	55598102	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	53640303	55598102	135556174	45	6139											
ANKRD17	26057	broad.mit.edu	37	chr4	74005792	74005792	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttgttgagctcctcgatCttctccttggtaagttggtc	4	18	10	9	1	2	1	0	1	2	0	6	2	3	1	2	2	1	5	2	2	1	7			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:74005792C>T	ENST00000358602.4	-	15	2657	c.2541G>A	c.(2539-2541)aaG>aaA	p.K847K	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000509867.2_Silent_p.K734K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	847					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTCCTCGATCTTCTCCTTGG	0.413													6	245					0	0	0	0	T	74005792	C	T	74005792	2	4	31	1	0	0	0	0	0	0	0	1	646	912	32	2		2	ANKRD17	4	74005792	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	18407690	74005792	117148484	46	6140											
TET2	54790	broad.mit.edu	37	chr4	106157590	106157590	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcaagtgcatgcaaaataCaggtttcttgttcaaacaat	16	12	6	7	0	3	0	2	0	1	0	3	0	3	0	0	1	4	4	0	1	7	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:106157590C>T	ENST00000513237.1	+	3	3351	c.2554C>T	c.(2554-2556)Cag>Tag	p.Q852*	TET2_ENST00000305737.2_Nonsense_Mutation_p.Q831*|TET2_ENST00000413648.2_Nonsense_Mutation_p.Q831*|TET2_ENST00000540549.1_Nonsense_Mutation_p.Q831*|TET2_ENST00000380013.4_Nonsense_Mutation_p.Q831*|TET2_ENST00000394764.1_Nonsense_Mutation_p.Q831*|TET2_ENST00000545826.1_Nonsense_Mutation_p.Q831*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	831	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATGCAAAATACAGGTTTCTTG	0.378			"Mis N, F"		MDS								11	54					0	0	0	0	T	106157590	C	T	106157590	4	4	31	1	0	0	0	0	0	1	0	0	15864	479	17	4	2493	4	TET2	4	106157590	Nonsense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	32151798	106157590	84996686	47	6141											
FBXW7	55294	broad.mit.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	14	9	9	9	1	1	2	1	1	0	1	1	3	1	3	1	1	4	3	1	1	5	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								32	154					0	0	0	0	A	153249385	G	A	153249385	3	1	31	1	0	0	0	0	1	0	0	0	5814	1087	38	1	746	1	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	47091795	153249385	37904891	48	6142											
NAF1	92345	broad.mit.edu	37	chr4	164061530	164061530	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaacaggtccaaatatctcGaatatctgtaatagaaacat	17	10	6	8	1	2	1	0	0	2	1	4	2	3	1	1	1	2	2	1	1	8	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:164061530G>A	ENST00000274054.2	-	5	916	c.723C>T	c.(721-723)ttC>ttT	p.F241F	NAF1_ENST00000422287.2_Silent_p.F241F	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	241					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CAAATATCTCGAATATCTGTA	0.303													4	63					0	0	0	0	A	164061530	G	A	164061530	2	1	31	1	0	0	0	0	0	0	0	1	10210	1049	37	1		1	NAF1	4	164061530	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	10812145	164061530	27092746	49	6143											
GALNT7	51809	broad.mit.edu	37	chr4	174213302	174213302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaacttgctcacttcgagcGttgtcattgtcttccataat	10	15	6	10	2	3	0	2	0	1	0	5	1	4	0	1	0	3	2	1	0	3	6	rs146899388		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:174213302G>A	ENST00000265000.4	+	3	714	c.631G>A	c.(631-633)Gtt>Att	p.V211I	GALNT7_ENST00000502407.1_3'UTR|GALNT7_ENST00000512285.1_Missense_Mutation_p.V211I	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	211	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CACTTCGAGCGTTGTCATTGT	0.363													10	45					0	0	0	0	A	174213302	G	A	174213302	3	1	31	1	0	0	0	0	1	0	0	0	6267	1145	40	1	641	1	GALNT7	4	174213302	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	10151772	174213302	16940974	50	6144											
ASB5	140458	broad.mit.edu	37	chr4	177146431	177146431	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgtgataataatgttctCagagcaagaaggcgaccttg	13	10	10	8	1	1	3	1	1	1	2	2	4	1	3	2	1	1	2	2	1	4	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:177146431C>T	ENST00000296525.3	-	2	371	c.258G>A	c.(256-258)ctG>ctA	p.L86L	ASB5_ENST00000512254.1_Silent_p.L33L|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	86					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATAATGTTCTCAGAGCAAGAA	0.353													13	70					0	0	0	0	T	177146431	C	T	177146431	2	4	31	1	0	0	0	0	0	0	0	1	1030	813	29	2		2	ASB5	4	177146431	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	2933129	177146431	14007845	51	6145											
MBLAC2	153364	broad.mit.edu	37	chr5	89757342	89757342	+	Frame_Shift_Del	DEL	T	T	-																															gcatgtgcataacagtgagcTgtctgtcaccaaggttgatc																										TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:89757342delT	ENST00000316610.6	-	2	957	c.482delA	c.(481-483)cgfs	p.Q161fs		NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	161							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						AACAGTGAGCTGTCTGTCACC	0.428													8	41	---	---	---	---					-	89757342	T	-	89757342	7	5	31	1	0	1	0	1	0	0	0	0	9421	1580	55	0	361	0	MBLAC2	5	89757342	Frame_Shift_Del	DEL	T	TCGA-BA-A6DF-01A-11D-A30E-08		89757342	91157918	52	6146											
LIX1	167410	broad.mit.edu	37	chr5	96460172	96460172	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaatggctacttcttacctGaaagttgccaaaacagcttc	12	13	6	10	0	1	1	0	1	1	0	2	1	1	1	2	1	5	3	2	1	6	6			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:96460172G>A	ENST00000274382.4	-	2	539	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	82										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		CTTCTTACCTGAAAGTTGCCA	0.428													19	76					0	0	0	0	A	96460172	G	A	96460172	4	1	31	1	0	0	0	0	0	1	0	0	8886	1299	45	2	624	2	LIX1	5	96460172	Nonsense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	6702830	96460172	84455088	53	6147											
TSSK1B	83942	broad.mit.edu	37	chr5	112769745	112769745	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtggctgaggatctcGtcgatgtggagccgccggtt	6	9	16	10	4	1	1	0	1	1	0	3	4	1	3	2	4	2	3	2	4	0	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:112769745G>A	ENST00000390666.3	-	1	983	c.792C>T	c.(790-792)gaC>gaT	p.D264D	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	264	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TGAGGATCTCGTCGATGTGGA	0.617													10	41					0	0	0	0	A	112769745	G	A	112769745	2	1	31	1	0	0	0	0	0	0	0	1	16763	1136	40	1		1	TSSK1B	5	112769745	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	16309573	112769745	68145515	54	6148											
CEP120	153241	broad.mit.edu	37	chr5	122718571	122718571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagacggcttttgctgtaCggcagatacaccctaagaga	13	8	11	9	2	0	4	0	0	0	4	0	5	0	4	1	2	3	4	1	2	4	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:122718571C>T	ENST00000306467.5	-	13	2177	c.1873G>A	c.(1873-1875)Gta>Ata	p.V625I	CEP120_ENST00000328236.5_Missense_Mutation_p.V625I|CEP120_ENST00000306481.6_Missense_Mutation_p.V599I			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	625						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTTTGCTGTACGGCAGATACA	0.393													12	41					0	0	0	0	T	122718571	C	T	122718571	3	4	31	1	0	0	0	0	1	0	0	0	3275	536	19	1	1119	1	CEP120	5	122718571	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	9948826	122718571	58196689	55	6149											
CHSY3	337876	broad.mit.edu	37	chr5	129520147	129520147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagcaagctcagtaacacaGaagtgagcaaagaggaccag	17	4	12	8	0	1	4	1	2	0	2	1	5	1	5	1	1	4	4	1	1	4	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:129520147G>A	ENST00000305031.4	+	3	1670	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	438						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAGTAACACAGAAGTGAGCAA	0.502													6	72					0	0	0	0	A	129520147	G	A	129520147	3	1	31	1	0	0	0	0	1	0	0	0	3442	943	33	2	1322	2	CHSY3	5	129520147	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	6801576	129520147	51395113	56	6150											
BRD8	10902	broad.mit.edu	37	chr5	137501542	137501542	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaatgatggcaatgatgTctccaacagtctcaaaatcc	13	10	6	12	0	3	2	2	2	2	0	6	2	4	2	3	1	1	1	3	1	5	0			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:137501542T>C	ENST00000254900.5	-	11	1624	c.1253A>G	c.(1252-1254)gAc>gGc	p.D418G	BRD8_ENST00000230901.5_Missense_Mutation_p.D491G|BRD8_ENST00000455658.2_Missense_Mutation_p.D377G|BRD8_ENST00000402931.1_Missense_Mutation_p.D418G|BRD8_ENST00000411594.2_Missense_Mutation_p.D421G	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	418					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCAATGATGTCTCCAACAGT	0.463													15	78					0	0	0	0	C	137501542	T	C	137501542	3	2	31	1	0	0	0	0	1	0	0	0	1514	1667	58	5	2586	5	BRD8	5	137501542	Missense_Mutation	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08	7981395	137501542	43413718	57	6151											
KDM3B	51780	broad.mit.edu	37	chr5	137766020	137766020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacctggaccagaccctccGtaagcgactctatgaggagt	10	8	11	12	2	1	2	0	1	1	1	2	5	2	4	4	2	2	2	4	2	3	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:137766020G>A	ENST00000314358.5	+	22	5176	c.4976G>A	c.(4975-4977)cGt>cAt	p.R1659H	KDM3B_ENST00000394866.1_Missense_Mutation_p.R1315H|KDM3B_ENST00000542866.1_Missense_Mutation_p.R691H	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1659	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CAGACCCTCCGTAAGCGACTC	0.517													28	131					0	0	0	0	A	137766020	G	A	137766020	3	1	31	1	0	0	0	0	1	0	0	0	8180	1145	40	1	5062	1	KDM3B	5	137766020	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	264478	137766020	43149240	58	6152											
PCDHA10	56139	broad.mit.edu	37	chr5	140235928	140235928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgtgcgggcggagcGtggagtgcagcatccacctg	7	6	18	10	3	0	0	0	0	0	0	1	3	1	3	2	4	5	3	2	4	0	0			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:140235928G>A	ENST00000307360.5	+	1	295	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V99M|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGGAGCGTGGAGTGCAG	0.562													42	228					0	0	0	0	A	140235928	G	A	140235928	3	1	31	1	0	0	0	0	1	0	0	0	11591	1145	40	1	297	1	PCDHA10	5	140235928	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	2469908	140235928	40679332	59	6153											
PCDHB3	56132	broad.mit.edu	37	chr5	140480924	140480924	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcccagataaacatcCaggtcttagatataaacgac	16	7	8	10	1	1	2	0	0	1	2	2	4	2	3	2	2	3	0	2	2	6	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:140480924C>A	ENST00000231130.2	+	1	691	c.691C>A	c.(691-693)Cag>Aag	p.Q231K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		231	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATAAACATCCAGGTCTTAGA	0.537													7	115					8.12818e-05	8.54404e-05	1	0	A	140480924	C	A	140480924	3	1	31	1	0	0	0	0	1	0	0	0	11614	595	21	4	693	4	PCDHB3	5	140480924	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	244996	140480924	40434336	60	6154											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745676	140745676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgaccaaggtggtagcGgtggacaaagattcaggcca	11	7	15	8	1	1	2	1	1	0	1	1	3	1	3	2	6	1	1	2	6	3	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:140745676G>A	ENST00000518069.1	+	1	1779	c.1779G>A	c.(1777-1779)gcG>gcA	p.A593A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGTAGCGGTGGACAAAG	0.652													32	146					0	0	0	0	A	140745676	G	A	140745676	2	1	31	1	0	0	0	0	0	0	0	1	11628	1103	39	1		1	PCDHGA5	5	140745676	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	264752	140745676	40169584	61	6155											
SLC6A7	6534	broad.mit.edu	37	chr5	149576667	149576667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctactacaacatgatcatcGcctacgtgctcttctacctc	9	13	4	15	2	4	1	1	1	3	0	6	1	4	1	2	0	6	1	2	0	5	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:149576667G>T	ENST00000230671.2	+	4	783	c.412G>T	c.(412-414)Gcc>Tcc	p.A138S	SLC6A7_ENST00000524041.1_Missense_Mutation_p.A138S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	138						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CATGATCATCGCCTACGTGCT	0.617													7	54					2.0095e-06	2.17295e-06	1	0	T	149576667	G	T	149576667	3	4	31	1	0	0	0	0	1	0	0	0	14777	1087	38	3	426	3	SLC6A7	5	149576667	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	8830991	149576667	31338593	62	6156											
FAM71B	153745	broad.mit.edu	37	chr5	156593128	156593128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggttttgaacgcactcaTtgaagagtagctgtgggctg	9	11	15	6	1	1	3	1	2	0	1	1	4	1	4	0	3	2	5	0	3	3	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:156593128T>C	ENST00000302938.4	-	1	147	c.52A>G	c.(52-54)Atg>Gtg	p.M18V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	18						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACGCACTCATTGAAGAGTAG	0.438													26	88					0	0	0	0	C	156593128	T	C	156593128	3	2	31	1	0	0	0	0	1	0	0	0	5654	1493	52	5	1773	5	FAM71B	5	156593128	Missense_Mutation	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08	7016461	156593128	24322132	63	6157											
NIPAL4	348938	broad.mit.edu	37	chr5	156899532	156899532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggctgccagttgtccGgcacccgctcccctacatcc	5	7	10	19	2	0	0	0	0	0	0	3	0	3	0	7	3	2	4	7	3	1	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:156899532G>A	ENST00000311946.7	+	6	1081	c.965G>A	c.(964-966)cGg>cAg	p.R322Q	NIPAL4_ENST00000435489.2_Missense_Mutation_p.R303Q|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	322						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCAGTTGTCCGGCACCCGCTC	0.562											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	169					0	0	0	0	A	156899532	G	A	156899532	3	1	31	1	0	0	0	0	1	0	0	0	10497	1116	39	1	987	1	NIPAL4	5	156899532	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	306404	156899532	24015728	64	6158											
B4GALT7	11285	broad.mit.edu	37	chr5	177035995	177035995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcggaagagggaccagaagCgcatcgcagctcaaaaacag	15	2	14	10	3	1	2	1	0	0	2	2	4	1	4	1	3	3	3	1	3	4	0	rs28937869		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:177035995C>T	ENST00000029410.5	+	5	919	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	270					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACCAGAAGCGCATCGCAGC	0.597													10	44					0	0	0	0	T	177035995	C	T	177035995	3	4	31	1	0	0	0	0	1	0	0	0	1280	768	27	1	826	1	B4GALT7	5	177035995	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	20136463	177035995	3879265	65	6159											
BTN3A3	10384	broad.mit.edu	37	chr6	26445952	26445952	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgggttctgatcttcacAttgaagtgaagggttatgag	10	14	12	5	0	3	4	1	4	2	0	3	4	3	4	0	2	0	2	0	2	3	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:26445952A>T	ENST00000244519.2	+	5	697	c.454A>T	c.(454-456)Att>Ttt	p.I152F	BTN3A3_ENST00000361232.3_Missense_Mutation_p.I110F|BTN3A3_ENST00000339789.4_Missense_Mutation_p.I110F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	152	Ig-like V-type 2.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TGATCTTCACATTGAAGTGAA	0.493													10	59					0	0	0	0	T	26445952	A	T	26445952	3	4	31	1	0	0	0	0	1	0	0	0	1573	217	8	5	464	5	BTN3A3	6	26445952	Missense_Mutation	SNP	A	TCGA-BA-A6DF-01A-11D-A30E-08		26445952	144669115	66	6160											
DAXX	1616	broad.mit.edu	37	chr6	33288849	33288849	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacatagtcgcccaaagaGgcggatcagcttacgcttca	11	8	9	13	3	3	1	3	0	0	1	4	2	3	2	1	2	2	2	1	2	3	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:33288849G>C	ENST00000374542.5	-	3	907	c.703C>G	c.(703-705)Ctc>Gtc	p.L235V	DAXX_ENST00000266000.6_Missense_Mutation_p.L235V|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Missense_Mutation_p.L160V	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	235					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CGCCCAAAGAGGCGGATCAGC	0.572			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								4	81					0	0	0	0	C	33288849	G	C	33288849	3	2	31	1	0	0	0	0	1	0	0	0	4276	1000	35	4	1543	4	DAXX	6	33288849	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	6842897	33288849	137826218	67	6161											
DNAH8	1769	broad.mit.edu	37	chr6	38893984	38893984	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaaaaagaaaatgatttaCaggtatgtagcatttggtgc	16	11	11	3	0	0	2	0	1	0	1	0	3	0	3	0	3	3	3	0	3	7	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:38893984C>T	ENST00000359357.3	+	72	10719	c.10465C>T	c.(10465-10467)Cag>Tag	p.Q3489*	RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.Q3706*|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.Q3453*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAATGATTTACAGGTATGTAG	0.368													6	75					0	0	0	0	T	38893984	C	T	38893984	4	4	31	1	0	0	0	0	0	1	0	0	4643	479	17	4	10743	4	DNAH8	6	38893984	Nonsense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	5605135	38893984	132221083	68	6162											
PEX6	5190	broad.mit.edu	37	chr6	42935145	42935145	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgccaagttcacctcctgGcccaggggaaggtgggcagt	7	8	15	11	0	1	0	1	0	0	0	2	1	2	1	4	5	1	2	4	5	2	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:42935145G>A	ENST00000304611.8	-	8	1914	c.1845C>T	c.(1843-1845)ggC>ggT	p.G615G	PEX6_ENST00000244546.4_Silent_p.G615G	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	615					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCACCTCCTGGCCCAGGGGAA	0.602													6	21					0	0	0	0	A	42935145	G	A	42935145	2	1	31	1	0	0	0	0	0	0	0	1	11822	1190	42	4		4	PEX6	6	42935145	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	4041161	42935145	128179922	69	6163											
KIAA1009	22832	broad.mit.edu	37	chr6	84913764	84913764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcatctcttcatctttagTagtcaacggtgcaccaacat	11	12	7	11	1	4	0	2	0	2	0	5	0	4	0	1	2	3	3	1	2	4	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:84913764T>C	ENST00000403245.3	-	7	736	c.622A>G	c.(622-624)Act>Gct	p.T208A	KIAA1009_ENST00000257766.4_Missense_Mutation_p.T132A	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	208					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCATCTTTAGTAGTCAACGGT	0.308													3	64					0	0	0	0	C	84913764	T	C	84913764	3	2	31	1	0	0	0	0	1	0	0	0	8254	1638	57	5	3673	5	KIAA1009	6	84913764	Missense_Mutation	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08	41978619	84913764	86201303	70	6164											
KLHL32	114792	broad.mit.edu	37	chr6	97575321	97575321	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatatcagaacaggctaatgGtgtatgaacctaaccaggta	16	9	9	7	0	1	2	1	1	0	1	1	2	1	2	2	3	3	3	2	3	8	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:97575321G>C	ENST00000369261.4	+	8	1759	c.1396G>C	c.(1396-1398)Gtg>Ctg	p.V466L	KLHL32_ENST00000544166.1_Missense_Mutation_p.V22L|KLHL32_ENST00000539200.1_Missense_Mutation_p.V397L|KLHL32_ENST00000536676.1_Missense_Mutation_p.V430L	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	466										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CAGGCTAATGGTGTATGAACC	0.323													23	97					0	0	0	0	C	97575321	G	C	97575321	3	2	31	1	0	0	0	0	1	0	0	0	8438	1261	44	4	1422	4	KLHL32	6	97575321	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	12661557	97575321	73539746	71	6165											
GPR6	2830	broad.mit.edu	37	chr6	110301323	110301323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gccttccgcaaccaggagatCcagcgcgccctgtggctcct	6	7	11	17	3	0	1	0	0	0	1	3	2	3	1	6	2	2	2	6	2	1	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:110301323C>G	ENST00000414000.2	+	3	1292	c.1053C>G	c.(1051-1053)atC>atG	p.I351M	GPR6_ENST00000275169.3_Missense_Mutation_p.I336M			P46095	GPR6_HUMAN	G protein-coupled receptor 6	336						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ACCAGGAGATCCAGCGCGCCC	0.612													36	160					0	0	0	0	G	110301323	C	G	110301323	3	3	31	1	0	0	0	0	1	0	0	0	6750	845	30	2	1010	2	GPR6	6	110301323	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	12726002	110301323	60813744	72	6166											
NXPH1	30010	broad.mit.edu	37	chr7	8791053	8791053	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttatttcaggcataattCaactggtcaagggaatgtat	12	15	9	5	0	3	0	3	0	0	0	3	1	3	1	0	3	1	3	0	3	6	6			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:8791053C>A	ENST00000405863.1	+	3	1381	c.470C>A	c.(469-471)tCa>tAa	p.S157*	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Nonsense_Mutation_p.S40*	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	157	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGGCATAATTCAACTGGTCAA	0.398													15	35					0.000219431	0.00022959	1	0	A	8791053	C	A	8791053	4	1	31	1	0	0	0	0	0	1	0	0	10861	838	29	2	476	2	NXPH1	7	8791053	Nonsense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08		8791053	150347610	73	6167											
WIPF3	644150	broad.mit.edu	37	chr7	29915498	29915498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatccgaaaggccggagtgCgctgttggctgatatccagc	9	8	14	10	3	0	2	0	1	0	1	2	4	2	3	3	3	2	3	3	3	2	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:29915498C>T	ENST00000409290.1	+	2	143	c.143C>T	c.(142-144)gCg>gTg	p.A48V	WIPF3_ENST00000242140.5_Missense_Mutation_p.A48V|WIPF3_ENST00000409123.1_Missense_Mutation_p.A48V	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	48								p.A48V(1)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GGCCGGAGTGCGCTGTTGGCT	0.542													16	59					0	0	0	0	T	29915498	C	T	29915498	3	4	31	1	0	0	0	0	1	0	0	0	17465	768	27	1	149	1	WIPF3	7	29915498	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	21124445	29915498	129223165	74	6168											
PCLO	27445	broad.mit.edu	37	chr7	82586121	82586121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagaatatccttttcatcaGttggaataagacttggaatt	13	15	8	5	0	2	2	2	1	0	2	3	5	3	4	1	2	0	1	1	2	5	7			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:82586121G>T	ENST00000423517.2	-	5	4485	c.4148C>A	c.(4147-4149)aCt>aAt	p.T1383N	PCLO_ENST00000333891.8_Missense_Mutation_p.T1383N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1314					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTTTCATCAGTTGGAATAAG	0.443													7	39					0.00198382	0.00203792	1	0	T	82586121	G	T	82586121	3	4	31	1	0	0	0	0	1	0	0	0	11654	1029	36	4	11381	4	PCLO	7	82586121	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	52670623	82586121	76552542	75	6169											
GRM3	2913	broad.mit.edu	37	chr7	86415740	86415740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgcgcttcttcaactggaCctacgtgtccacagtagcct	7	12	8	14	2	2	0	1	0	1	0	3	1	3	1	3	1	4	2	3	1	3	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:86415740C>T	ENST00000361669.2	+	3	1731	c.632C>T	c.(631-633)aCc>aTc	p.T211I	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.T211I|GRM3_ENST00000536043.1_Missense_Mutation_p.T83I|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.T209I|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	211					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTCAACTGGACCTACGTGTCC	0.587													19	91					0	0	0	0	T	86415740	C	T	86415740	3	4	31	1	0	0	0	0	1	0	0	0	6848	507	18	4	638	4	GRM3	7	86415740	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	3829619	86415740	72722923	76	6170											
LMTK2	22853	broad.mit.edu	37	chr7	97821149	97821149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagggaccggctgggtcgtGaaatggaggaagtcctcacc	9	6	15	11	2	1	1	1	1	0	0	3	4	2	4	4	5	0	1	4	5	2	0			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:97821149G>A	ENST00000297293.5	+	11	1665	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	458					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCTGGGTCGTGAAATGGAGGA	0.582													17	69					0	0	0	0	A	97821149	G	A	97821149	3	1	31	1	0	0	0	0	1	0	0	0	8914	1291	45	2	1414	2	LMTK2	7	97821149	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	11405409	97821149	61317514	77	6171											
TECPR1	25851	broad.mit.edu	37	chr7	97873901	97873901	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accttggcccagatgtcccgGgacttgtatctcctgtaccg	6	11	10	14	2	1	1	0	0	1	1	3	2	2	2	5	2	1	2	5	2	2	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:97873901G>A	ENST00000447648.2	-	5	812	c.513C>T	c.(511-513)tcC>tcT	p.S171S	TECPR1_ENST00000379795.3_Silent_p.S171S|TECPR1_ENST00000542604.1_Silent_p.S92S			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	171						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGATGTCCCGGGACTTGTATC	0.582													13	63					0	0	0	0	A	97873901	G	A	97873901	2	1	31	1	0	0	0	0	0	0	0	1	15837	1219	43	4		4	TECPR1	7	97873901	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	52752	97873901	61264762	78	6172											
GPC2	221914	broad.mit.edu	37	chr7	99773975	99773975	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtactcctggggacagacCcggaggtgctcacctggaca	8	7	14	12	1	1	1	1	0	0	1	2	4	2	4	3	5	2	2	3	5	1	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:99773975C>T	ENST00000292377.2	-	2	347	c.180G>A	c.(178-180)cgG>cgA	p.R60R		NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	60						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGACAGACCCGGAGGTGCT	0.577													12	43					0	0	0	0	T	99773975	C	T	99773975	2	4	31	1	0	0	0	0	0	0	0	1	6647	610	22	4		4	GPC2	7	99773975	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	1900074	99773975	59364688	79	6173											
SLC12A9	56996	broad.mit.edu	37	chr7	100452263	100452263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttcgtggtgggtcatgctgGgctactgcaggccctggcca	4	10	16	11	1	1	0	1	0	0	0	2	0	1	0	2	5	3	4	2	5	1	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:100452263G>T	ENST00000354161.3	+	3	328	c.203G>T	c.(202-204)gGg>gTg	p.G68V	SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000540482.1_Missense_Mutation_p.G68V|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000428758.1_Missense_Mutation_p.G68V	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	68						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTCATGCTGGGCTACTGCAG	0.627													17	77					2.23348e-06	2.40365e-06	1	0	T	100452263	G	T	100452263	3	4	31	1	0	0	0	0	1	0	0	0	14478	1232	43	4	209	4	SLC12A9	7	100452263	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	678288	100452263	58686400	80	6174											
RBM33	155435	broad.mit.edu	37	chr7	155534637	155534637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatagaaatgagcagcagccGctgctctgccacgccctcag	10	6	11	14	2	2	2	1	1	1	1	2	3	2	2	3	0	5	4	3	0	2	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:155534637G>A	ENST00000401878.3	+	13	2372	c.2174G>A	c.(2173-2175)cGc>cAc	p.R725H		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	725							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGCAGCAGCCGCTGCTCTGCC	0.592													4	136					0	0	0	0	A	155534637	G	A	155534637	3	1	31	1	0	0	0	0	1	0	0	0	13212	1087	38	1	2224	1	RBM33	7	155534637	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	55082374	155534637	3604026	81	6175											
JPH1	56704	broad.mit.edu	37	chr8	75157339	75157339	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggtgtaggtggcttttCtggtaccttttcttctggat	3	20	11	7	0	3	0	0	0	3	0	3	1	3	1	1	5	1	3	1	5	2	8			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:75157339C>A	ENST00000342232.4	-	4	1370	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	444					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGTGGCTTTTCTGGTACCTTT	0.443													22	101					2.32416e-17	2.72155e-17	1	0	A	75157339	C	A	75157339	4	1	31	1	0	0	0	0	0	1	0	0	8013	922	32	2	663	2	JPH1	8	75157339	Nonsense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08		75157339	71206683	82	6176											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885685	88885685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagcatgccaggccgaCgcattcctgggaagctacct	10	7	11	13	2	0	0	0	0	0	0	1	2	1	1	4	2	5	4	4	2	3	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:88885685C>T	ENST00000319675.3	-	1	611	c.515G>A	c.(514-516)cGt>cAt	p.R172H		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	172										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCCAGGCCGACGCATTCCTGG	0.567													20	152					0	0	0	0	T	88885685	C	T	88885685	3	4	31	1	0	0	0	0	1	0	0	0	4305	536	19	1	676	1	DCAF4L2	8	88885685	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	13728346	88885685	57478337	83	6177											
VPS13B	157680	broad.mit.edu	37	chr8	100133446	100133446	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatatgcaatatcctgctCagcataaaggtcaagagtta	15	11	8	7	0	2	2	2	0	0	2	3	2	3	2	1	1	3	4	1	1	8	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:100133446C>T	ENST00000395996.1	+	8	1090	c.979C>T	c.(979-981)Cag>Tag	p.Q327*	VPS13B_ENST00000358544.2_Nonsense_Mutation_p.Q327*|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.Q327*|VPS13B_ENST00000355155.1_Nonsense_Mutation_p.Q327*|VPS13B_ENST00000441350.2_Nonsense_Mutation_p.Q327*			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	327					protein transport			p.Q327*(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATATCCTGCTCAGCATAAAGG	0.373													5	40					0	0	0	0	T	100133446	C	T	100133446	4	4	31	1	0	0	0	0	0	1	0	0	17286	827	29	2	1005	2	VPS13B	8	100133446	Nonsense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	11247761	100133446	46230576	84	6178											
KLF10	7071	broad.mit.edu	37	chr8	103664140	103664140	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtttgggggcagatactggGctcttttcttcctctttgaa	6	16	11	8	0	3	2	0	1	3	1	4	2	4	2	1	3	1	3	1	3	2	6	rs147912564		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:103664140G>A	ENST00000395884.3	-	3	1289	c.387C>T	c.(385-387)agC>agT	p.S129S	KLF10_ENST00000285407.6_Silent_p.S140S	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	140					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CAGATACTGGGCTCTTTTCTT	0.498											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	105					0	0	0	0	A	103664140	G	A	103664140	2	1	31	1	0	0	0	0	0	0	0	1	8390	1194	42	4		4	KLF10	8	103664140	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	3530694	103664140	42699882	85	6179											
COL22A1	169044	broad.mit.edu	37	chr8	139626142	139626142	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtccttggggaccctgtgGcccagtgggtccagtgtcac	4	10	15	12	0	1	0	1	0	0	0	3	1	3	1	4	5	0	0	4	5	0	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:139626142G>T	ENST00000303045.6	-	56	4392	c.3946C>A	c.(3946-3948)Cca>Aca	p.P1316T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1296T|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1316	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGACCCTGTGGCCCAGTGGGT	0.478										HNSCC(7;0.00092)			20	174					1.2644e-06	1.37382e-06	1	0	T	139626142	G	T	139626142	3	4	31	1	0	0	0	0	1	0	0	0	3711	1203	42	4	974	4	COL22A1	8	139626142	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	35962002	139626142	6737880	86	6180											
PUF60	22827	broad.mit.edu	37	chr8	144899920	144899920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggttcatggaagacaCagcatcttgggacgactggg	13	7	14	7	1	2	2	1	0	1	2	2	5	2	4	0	4	1	2	0	4	2	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:144899920C>A	ENST00000526683.1	-	9	1405	c.850G>T	c.(850-852)Gtg>Ttg	p.V284L	PUF60_ENST00000527197.1_Missense_Mutation_p.V238L|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000313352.7_Missense_Mutation_p.V224L|PUF60_ENST00000453551.2_Missense_Mutation_p.V241L|PUF60_ENST00000349157.6_Missense_Mutation_p.V267L|PUF60_ENST00000456095.2_Missense_Mutation_p.V255L	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	284	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 2.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ATGGAAGACACAGCATCTTGG	0.647													4	34					0.150653	0.150653	1	0	A	144899920	C	A	144899920	3	1	31	1	0	0	0	0	1	0	0	0	12906	478	17	4	845	4	PUF60	8	144899920	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	5273778	144899920	1464102	87	6181											
PARP10	84875	broad.mit.edu	37	chr8	145059674	145059674	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcggcgctcattctcCaggtacaactccagcaacag	10	7	8	16	2	2	0	1	0	1	0	4	0	3	0	3	2	5	3	3	2	3	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:145059674C>T	ENST00000313028.7	-	4	673	c.579G>A	c.(577-579)ctG>ctA	p.L193L	PARP10_ENST00000524918.1_Silent_p.L193L|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Silent_p.L205L	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	193	Poly-Leu.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTCATTCTCCAGGTACAACT	0.677													10	55					0	0	0	0	T	145059674	C	T	145059674	2	4	31	1	0	0	0	0	0	0	0	1	11526	581	21	4		4	PARP10	8	145059674	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	159754	145059674	1304348	88	6182											
PRKACG	5568	broad.mit.edu	37	chr9	71628437	71628437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagtgcggcccttcacgCgcttggcgaaaccgaagtcc	8	7	11	15	5	1	0	1	0	0	0	3	2	3	0	4	2	2	1	4	2	3	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:71628437C>T	ENST00000377276.2	-	1	602	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	191	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCCTTCACGCGCTTGGCGAA	0.627													3	39					0	0	0	0	T	71628437	C	T	71628437	3	4	31	1	0	0	0	0	1	0	0	0	12579	768	27	1	487	1	PRKACG	9	71628437	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08		71628437	69584994	89	6183											
TRPM3	80036	broad.mit.edu	37	chr9	73152119	73152119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacggacaatgtaggcggCgtccgtgcagtctgacgagg	8	7	16	10	5	1	2	0	2	1	0	2	4	2	3	1	4	1	2	1	4	2	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:73152119C>T	ENST00000377110.2	-	25	4117	c.3874G>A	c.(3874-3876)Gcc>Acc	p.A1292T	TRPM3_ENST00000423814.3_Missense_Mutation_p.A1319T|TRPM3_ENST00000377105.1_Missense_Mutation_p.A1151T|TRPM3_ENST00000408909.2_Missense_Mutation_p.A1151T|TRPM3_ENST00000396280.5_Missense_Mutation_p.A1141T|TRPM3_ENST00000377106.1_Missense_Mutation_p.A1164T|TRPM3_ENST00000377111.2_Missense_Mutation_p.A1292T|TRPM3_ENST00000396285.1_Missense_Mutation_p.A1151T|TRPM3_ENST00000360823.2_Missense_Mutation_p.A1154T|TRPM3_ENST00000396292.4_Missense_Mutation_p.A1164T|TRPM3_ENST00000357533.2_Missense_Mutation_p.A1296T|TRPM3_ENST00000358082.3_Missense_Mutation_p.A1154T	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1317						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATGTAGGCGGCGTCCGTGCAG	0.612													6	130					0	0	0	0	T	73152119	C	T	73152119	3	4	31	1	0	0	0	0	1	0	0	0	16682	768	27	1	1253	1	TRPM3	9	73152119	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	1523682	73152119	68061312	90	6184											
NAA35	60560	broad.mit.edu	37	chr9	88622379	88622379	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctccggtgctttcccccaAgtaagtattgtaagacattt	9	14	7	11	1	0	1	0	0	0	1	3	1	3	1	4	1	1	4	4	1	4	6			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:88622379A>C	ENST00000361671.5	+	14	1356	c.1223_splice	c.e14+1	p.K408_splice		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	408					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CTTTCCCCCAAGTAAGTATTG	0.408													5	97					0	0	0	0	C	88622379	A	C	88622379	5	2	31	1	0	0	0	0	0	0	1	0	10193	86	3	5	1273	5	NAA35	9	88622379	Splice_Site	SNP	A	TCGA-BA-A6DF-01A-11D-A30E-08	15470260	88622379	52591052	91	6185											
SMC2	10592	broad.mit.edu	37	chr9	106864325	106864325	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atattgcttatcagtttttgCtggctgaagataccaaagta	12	15	8	6	0	1	2	1	1	0	1	1	2	1	2	1	1	3	5	1	1	6	7			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:106864325C>T	ENST00000286398.7	+	8	1009	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	SMC2_ENST00000374793.3_Silent_p.L241L|SMC2_ENST00000374787.3_Silent_p.L241L|SMC2_ENST00000303219.8_Silent_p.L241L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	241					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TCAGTTTTTGCTGGCTGAAGA	0.333													4	100					0	0	0	0	T	106864325	C	T	106864325	2	4	31	1	0	0	0	0	0	0	0	1	14871	796	28	4		4	SMC2	9	106864325	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	18241946	106864325	34349106	92	6186											
ABCA1	19	broad.mit.edu	37	chr9	107591253	107591253	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaatgaggctactaaTgaaccagctaaaccagagga	18	5	11	7	0	0	4	0	2	0	2	0	6	0	6	2	3	4	2	2	3	7	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:107591253T>C	ENST00000374736.3	-	15	2453	c.2059A>G	c.(2059-2061)Att>Gtt	p.I687V	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	687					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGGCTACTAATGAACCAGCTA	0.532													22	47					0	0	0	0	C	107591253	T	C	107591253	3	2	31	1	0	0	0	0	1	0	0	0	28	1464	51	5	4870	5	ABCA1	9	107591253	Missense_Mutation	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08	726928	107591253	33622178	93	6187											
EPB41L4B	54566	broad.mit.edu	37	chr9	111962564	111962564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggggaggcttgatttccGgcttttccacagctggctgg	4	12	14	11	2	0	1	0	1	0	0	3	2	2	2	2	6	1	4	2	6	0	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:111962564G>A	ENST00000374566.3	-	20	2514	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	666						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTGATTTCCGGCTTTTCCAC	0.403													9	73					0	0	0	0	A	111962564	G	A	111962564	3	1	31	1	0	0	0	0	1	0	0	0	5194	1116	39	1	733	1	EPB41L4B	9	111962564	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	4371311	111962564	29250867	94	6188											
DAB2IP	153090	broad.mit.edu	37	chr9	124526081	124526081	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcccagcaagtgctcggcCgctgacctcccagagcacca	9	5	10	17	2	0	2	0	1	0	1	3	3	2	2	5	1	3	4	5	1	1	0			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:124526081C>T	ENST00000408936.3	+	8	1565	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A	DAB2IP_ENST00000309989.1_Silent_p.A337A|DAB2IP_ENST00000259371.2_Silent_p.A433A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	461	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGTGCTCGGCCGCTGACCTCC	0.577													33	66					0	0	0	0	T	124526081	C	T	124526081	2	4	31	1	0	0	0	0	0	0	0	1	4252	639	23	1		1	DAB2IP	9	124526081	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	12563517	124526081	16687350	95	6189											
MAPKAP1	79109	broad.mit.edu	37	chr9	128201270	128201270	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccgggcagtgctagctcGcgattccaggatgtagttaa	9	9	13	10	3	0	0	0	0	0	0	2	2	1	1	2	2	3	5	2	2	3	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:128201270G>A	ENST00000265960.3	-	12	1797	c.1465C>T	c.(1465-1467)Cga>Tga	p.R489*	MAPKAP1_ENST00000373511.2_Nonsense_Mutation_p.R442*|MAPKAP1_ENST00000373503.3_Nonsense_Mutation_p.R297*|MAPKAP1_ENST00000373498.1_Nonsense_Mutation_p.R489*|MAPKAP1_ENST00000350766.3_Nonsense_Mutation_p.R453*|MAPKAP1_ENST00000394063.1_Nonsense_Mutation_p.R297*|MAPKAP1_ENST00000373497.5_Nonsense_Mutation_p.R202*|MAPKAP1_ENST00000483937.1_5'UTR	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	489	Interaction with ATF2.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GTGCTAGCTCGCGATTCCAGG	0.557													15	87					0	0	0	0	A	128201270	G	A	128201270	4	1	31	1	0	0	0	0	0	1	0	0	9357	1095	38	1	107	1	MAPKAP1	9	128201270	Nonsense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	3675189	128201270	13012161	96	6190											
NOTCH1	4851	broad.mit.edu	37	chr9	139412697	139412697	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcgcagttggagccctCgttacaggggttgctgatgc	5	11	16	9	2	0	1	0	1	0	0	2	2	0	2	1	4	4	5	1	4	1	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:139412697C>A	ENST00000277541.6	-	7	1222	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	383	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.E383K(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGGAGCCCTCGTTACAGGGG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			4	6					1.23904e-05	1.32712e-05	1	0	A	139412697	C	A	139412697	4	1	31	1	0	0	0	0	0	1	0	0	10617	893	31	3	6632	3	NOTCH1	9	139412697	Nonsense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	11211427	139412697	1800734	97	6191											
KIAA1984	84960	broad.mit.edu	37	chr9	139699072	139699072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggagaccagcgagaagtAccgccgggtaagccccaggc	12	2	15	12	3	0	2	0	0	0	2	0	5	0	2	5	3	3	2	5	3	4	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:139699072A>G	ENST00000338005.6	+	7	820	c.785A>G	c.(784-786)tAc>tGc	p.Y262C	KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	262										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGCGAGAAGTACCGCCGGGTA	0.652													4	115					0	0	0	0	G	139699072	A	G	139699072	3	3	31	1	0	0	0	0	1	0	0	0	8317	391	14	5	811	5	KIAA1984	9	139699072	Missense_Mutation	SNP	A	TCGA-BA-A6DF-01A-11D-A30E-08	286375	139699072	1514359	98	6192											
ABCA2	20	broad.mit.edu	37	chr9	139904002	139904002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccctcacctgtgtgatGtcagcaccactgaacgccct	7	8	10	16	2	2	2	2	2	0	0	2	2	2	2	4	1	2	1	4	1	1	0			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:139904002G>A	ENST00000265662.5	-	44	6872	c.6725C>T	c.(6724-6726)aCa>aTa	p.T2242I	ABCA2_ENST00000371605.3_Missense_Mutation_p.T2241I|ABCA2_ENST00000341511.6_Missense_Mutation_p.T2242I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2241	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTGTGTGATGTCAGCACCAC	0.652													46	55					0	0	0	0	A	139904002	G	A	139904002	3	1	31	1	0	0	0	0	1	0	0	0	32	1377	48	4	609	4	ABCA2	9	139904002	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	204930	139904002	1309429	99	6193											
SEPHS1	22929	broad.mit.edu	37	chr10	13361156	13361156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagattaagaggtggcccCgggtgtgggattcacatttt	8	13	13	7	1	2	2	1	0	1	2	2	3	2	3	2	4	0	0	2	4	2	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr10:13361156C>T	ENST00000327347.5	-	9	1540	c.1165G>A	c.(1165-1167)Ggg>Agg	p.G389R	SEPHS1_ENST00000545675.1_3'UTR|SEPHS1_ENST00000537130.1_Missense_Mutation_p.G322R|SEPHS1_ENST00000378614.4_Missense_Mutation_p.G318R	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	389				PQVATQNVNPTPGATS -> HKWPLKT (in Ref. 1; AAA87567).	protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						GAGGTGGCCCCGGGTGTGGGA	0.418													4	230					0	0	0	0	T	13361156	C	T	13361156	3	4	31	1	0	0	0	0	1	0	0	0	14141	652	23	1	17	1	SEPHS1	10	13361156	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08		13361156	122173591	100	6194											
RSU1	6251	broad.mit.edu	37	chr10	16794653	16794653	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgttatccctaaggctgagCtaaacagaagaaaacaagtt	16	9	8	8	1	0	3	0	1	0	2	2	3	1	3	1	1	3	4	1	1	8	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr10:16794653C>A	ENST00000377921.3	-	6	785		c.e6-1		RSU1_ENST00000464074.2_Splice_Site|RSU1_ENST00000602389.1_Splice_Site|RSU1_ENST00000345264.5_Splice_Site			Q15404	RSU1_HUMAN	Ras suppressor protein 1						cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		TAAGGCTGAGCTAAACAGAAG	0.458													6	70					5.9392e-07	6.51582e-07	1	0	A	16794653	C	A	16794653	5	1	31	1	0	0	0	0	0	0	1	0	13801	811	28	4	362	4	RSU1	10	16794653	Splice_Site	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	3433497	16794653	118740094	101	6195											
GPRIN2	9721	broad.mit.edu	37	chr10	46998915	46998915	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgagccgggtccctgggCacccctgagcccccgccttc	3	5	11	22	3	0	1	0	1	0	0	2	2	1	1	9	2	2	1	9	2	0	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr10:46998915C>A	ENST00000374314.4	+	1	990	c.35C>A	c.(34-36)gCa>gAa	p.A12E	GPRIN2_ENST00000374317.1_Missense_Mutation_p.A12E			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	12										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGTCCCTGGGCACCCCTGAGC	0.662													15	202					1.56452e-12	1.79483e-12	1	0	A	46998915	C	A	46998915	3	1	31	1	0	0	0	0	1	0	0	0	6780	710	25	4	37	4	GPRIN2	10	46998915	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	30204262	46998915	88535832	102	6196											
CHUK	1147	broad.mit.edu	37	chr10	101961881	101961881	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccttttcttccatttctttCcatgcttttagcattttttc	4	23	3	11	0	2	0	0	0	2	0	5	0	4	0	3	0	2	2	3	0	1	10			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr10:101961881C>A	ENST00000370397.7	-	14	1619	c.1533G>T	c.(1531-1533)tgG>tgT	p.W511C		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	511					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CCATTTCTTTCCATGCTTTTA	0.348													10	46					5.16669e-11	5.83836e-11	1	0	A	101961881	C	A	101961881	3	1	31	1	0	0	0	0	1	0	0	0	3445	856	30	2	736	2	CHUK	10	101961881	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	54962966	101961881	33572866	103	6197											
BTBD16	118663	broad.mit.edu	37	chr10	124045696	124045696	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtctgagaccttggccaaGctctacctgaaagccctggc	9	8	10	14	0	2	2	0	2	2	1	2	3	2	2	4	2	3	1	4	2	3	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr10:124045696G>C	ENST00000368994.2	+	5	572	c.321G>C	c.(319-321)aaG>aaC	p.K107N	BTBD16_ENST00000260723.4_Missense_Mutation_p.K106N			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	106										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCTTGGCCAAGCTCTACCTGA	0.587													58	189					0	0	0	0	C	124045696	G	C	124045696	3	2	31	1	0	0	0	0	1	0	0	0	1549	962	34	4	332	4	BTBD16	10	124045696	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	22083815	124045696	11489051	104	6198											
OR52I1	390037	broad.mit.edu	37	chr11	4615722	4615722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggaatgagtatggccGtcaccatcagagctgtcaca	10	9	12	10	1	3	2	3	1	0	1	3	3	3	3	2	2	2	3	2	2	2	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:4615722G>A	ENST00000450052.2	+	2	526	c.526G>A	c.(526-528)Gtc>Atc	p.V176I	OR52I1_ENST00000530443.2_Missense_Mutation_p.V152I			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGTATGGCCGTCACCATCAG	0.488													4	96					0	0	0	0	A	4615722	G	A	4615722	3	1	31	1	0	0	0	0	1	0	0	0	11191	1145	40	1	456	1	OR52I1	11	4615722	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08		4615722	130390794	105	6199											
DNHD1	144132	broad.mit.edu	37	chr11	6524004	6524004	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagcttgactatgaagtTcccagggaaaaggccttcca	11	10	9	11	0	1	2	1	2	1	0	4	3	3	3	3	2	1	2	3	2	4	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:6524004T>C	ENST00000254579.6	+	4	1332	c.768T>C	c.(766-768)gtT>gtC	p.V256V	DNHD1_ENST00000354685.3_Silent_p.V256V|DNHD1_ENST00000527990.2_Silent_p.V256V	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	256					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACTATGAAGTTCCCAGGGAAA	0.498													5	52					0	0	0	0	C	6524004	T	C	6524004	2	2	31	1	0	0	0	0	0	0	0	1	4704	1770	62	5		5	DNHD1	11	6524004	Silent	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08	1908282	6524004	128482512	106	6200											
SCUBE2	57758	broad.mit.edu	37	chr11	9068965	9068965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctggcgttcagatgttCtgggaggctttttagccacg	5	13	13	10	2	2	1	1	0	1	1	2	2	2	2	2	3	2	3	2	3	1	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:9068965C>A	ENST00000457346.2	-	16	2014	c.1940G>T	c.(1939-1941)aGa>aTa	p.R647I	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Missense_Mutation_p.R618I|SCUBE2_ENST00000520467.1_Missense_Mutation_p.R647I|SCUBE2_ENST00000450649.2_Missense_Mutation_p.R492I			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	618						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTCAGATGTTCTGGGAGGCTT	0.562													9	62					3.09899e-07	3.41644e-07	1	0	A	9068965	C	A	9068965	3	1	31	1	0	0	0	0	1	0	0	0	14032	913	32	2	1178	2	SCUBE2	11	9068965	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	2544961	9068965	125937551	107	6201											
MYOD1	4654	broad.mit.edu	37	chr11	17741781	17741781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccaaggtggagatcctgcGcaacgccatccgctatatcg	9	7	11	14	4	0	1	0	0	0	1	3	2	2	1	4	2	2	2	4	2	4	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:17741781G>A	ENST00000250003.3	+	1	667	c.452G>A	c.(451-453)cGc>cAc	p.R151H		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	151	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						GAGATCCTGCGCAACGCCATC	0.667													8	19					0	0	0	0	A	17741781	G	A	17741781	3	1	31	1	0	0	0	0	1	0	0	0	10158	1087	38	1	454	1	MYOD1	11	17741781	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	8672816	17741781	117264735	108	6202											
OR5D16	390144	broad.mit.edu	37	chr11	55607047	55607047	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactccaggcacacagtcAaagtggcctctgtgttttac	12	10	8	11	0	2	0	1	0	1	0	3	0	3	0	2	2	2	2	2	2	4	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:55607047A>G	ENST00000378396.1	+	1	820	c.820A>G	c.(820-822)Aaa>Gaa	p.K274E		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCACACAGTCAAAGTGGCCTC	0.478													13	67					0	0	0	0	G	55607047	A	G	55607047	3	3	31	1	0	0	0	0	1	0	0	0	11227	131	5	5	822	5	OR5D16	11	55607047	Missense_Mutation	SNP	A	TCGA-BA-A6DF-01A-11D-A30E-08	37865266	55607047	79399469	109	6203											
GIF	2694	broad.mit.edu	37	chr11	59609961	59609961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagggtcttggcaaagcGgacggctatcggcaaggtcg	9	6	16	10	4	1	0	0	0	1	0	3	1	1	1	0	6	2	4	0	6	3	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:59609961G>A	ENST00000541311.1	-	4	625	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	GIF_ENST00000257248.2_Missense_Mutation_p.R156C			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	156					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TTGGCAAAGCGGACGGCTATC	0.577													15	70					0	0	0	0	A	59609961	G	A	59609961	3	1	31	1	0	0	0	0	1	0	0	0	6427	1116	39	1	811	1	GIF	11	59609961	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	4002914	59609961	75396555	110	6204											
FADS2	9415	broad.mit.edu	37	chr11	61596042	61596042	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggggggccagcgggtcatCgggcactacgctggagaaga	8	4	18	11	4	1	2	1	0	0	2	2	3	1	2	2	6	2	2	2	6	2	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:61596042C>T	ENST00000278840.4	+	1	810	c.180C>T	c.(178-180)atC>atT	p.I60I	FADS2_ENST00000521849.1_Silent_p.I60I|FADS2_ENST00000257261.6_Intron|FADS2_ENST00000522056.1_Intron	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	60	Cytochrome b5 heme-binding.				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	AGCGGGTCATCGGGCACTACG	0.632											OREG0021015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	43					0	0	0	0	T	61596042	C	T	61596042	2	4	31	1	0	0	0	0	0	0	0	1	5407	874	31	1		1	FADS2	11	61596042	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	1986081	61596042	73410474	111	6205											
AHNAK	79026	broad.mit.edu	37	chr11	62292516	62292516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggggcctttaatatccaCgtcaggaactttcatgtcac	9	14	8	10	1	3	0	3	0	0	0	4	1	4	1	2	3	1	0	2	3	3	5	rs79187953	by1000genomes	TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:62292516C>T	ENST00000378024.4	-	5	9647	c.9373G>A	c.(9373-9375)Gtg>Atg	p.V3125M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3125					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAATATCCACGTCAGGAACT	0.458													80	382					0	0	0	0	T	62292516	C	T	62292516	3	4	31	1	0	0	0	0	1	0	0	0	414	536	19	1	8419	1	AHNAK	11	62292516	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	696474	62292516	72714000	112	6206											
RAB6A	5870	broad.mit.edu	37	chr11	73429683	73429683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcataaacaacaactgcCacagtggagtcacgaatgta	17	8	7	9	1	2	0	2	0	0	0	2	2	2	1	1	1	4	1	1	1	7	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:73429683C>T	ENST00000336083.3	-	4	719	c.264G>A	c.(262-264)gtG>gtA	p.V88V	RAB6A_ENST00000541588.1_Intron|RAB6A_ENST00000310653.6_Intron|RAB6A_ENST00000536566.1_Intron	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	88					minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding			large_intestine(2)|lung(2)	4						CAACAACTGCCACAGTGGAGT	0.418													7	39					0	0	0	0	T	73429683	C	T	73429683	2	4	31	1	0	0	0	0	0	0	0	1	13033	581	21	4		4	RAB6A	11	73429683	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	11137167	73429683	61576833	113	6207											
MYO7A	4647	broad.mit.edu	37	chr11	76912672	76912672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtcaccatgccaccgCgggagattgtggtatgtggc	7	9	13	12	2	1	1	1	0	0	1	1	2	1	1	4	3	1	1	4	3	1	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:76912672C>T	ENST00000409709.3	+	36	5304	c.5032C>T	c.(5032-5034)Cgg>Tgg	p.R1678W	MYO7A_ENST00000458637.2_Missense_Mutation_p.R1640W|MYO7A_ENST00000409619.2_Missense_Mutation_p.R1629W	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1678					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R1678W(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CATGCCACCGCGGGAGATTGT	0.592													10	53					0	0	0	0	T	76912672	C	T	76912672	3	4	31	1	0	0	0	0	1	0	0	0	10152	759	27	1	5204	1	MYO7A	11	76912672	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	3482989	76912672	58093844	114	6208											
NAALAD2	10003	broad.mit.edu	37	chr11	89903252	89903252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaggcaattatactctcaGagttgactgtactccccttc	9	14	6	12	0	2	2	2	1	1	1	5	2	3	2	2	1	2	3	2	1	4	6			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:89903252G>A	ENST00000534061.1	+	13	1588	c.1358G>A	c.(1357-1359)aGa>aAa	p.R453K	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.R420K	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	453	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TATACTCTCAGAGTTGACTGT	0.274													6	98					0	0	0	0	A	89903252	G	A	89903252	3	1	31	1	0	0	0	0	1	0	0	0	10198	942	33	2	1408	2	NAALAD2	11	89903252	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	12990580	89903252	45103264	115	6209											
OAF	220323	broad.mit.edu	37	chr11	120099625	120099625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaggcctcagagcaggCggagctgcctcgctgcaggc	7	4	15	15	2	1	1	1	0	0	1	2	2	1	2	3	4	4	4	3	4	1	0			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:120099625C>T	ENST00000328965.4	+	4	1109	c.596C>T	c.(595-597)gCg>gTg	p.A199V	OAF_ENST00000531220.1_Missense_Mutation_p.A83V	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	199										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		TCAGAGCAGGCGGAGCTGCCT	0.662													5	52					0	0	0	0	T	120099625	C	T	120099625	3	4	31	1	0	0	0	0	1	0	0	0	10869	768	27	1	610	1	OAF	11	120099625	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	30196373	120099625	14906891	116	6210											
A2M	2	broad.mit.edu	37	chr12	9229471	9229471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atacatggctgccatggtccCcttcttgtgctgtcttccag	5	14	9	13	0	2	0	0	0	2	0	4	0	4	0	4	2	3	2	4	2	1	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:9229471C>T	ENST00000318602.7	-	28	3720	c.3413G>A	c.(3412-3414)gGg>gAg	p.G1138E		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1138					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GCCATGGTCCCCTTCTTGTGC	0.498													30	104					0	0	0	0	T	9229471	C	T	9229471	3	4	31	1	0	0	0	0	1	0	0	0	4	623	22	4	1047	4	A2M	12	9229471	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08		9229471	124622424	117	6211											
DDX47	51202	broad.mit.edu	37	chr12	12974938	12974938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaccacttggaaaatacgaAaggtttcaacttgagagctc	14	10	9	8	1	1	2	1	2	0	1	2	5	1	3	1	2	3	2	1	2	5	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:12974938A>G	ENST00000358007.3	+	5	504	c.482A>G	c.(481-483)aAa>aGa	p.K161R	RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.K161R	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	161	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		GAAAATACGAAAGGTTTCAAC	0.403													13	52					0	0	0	0	G	12974938	A	G	12974938	3	3	31	1	0	0	0	0	1	0	0	0	4397	14	1	5	500	5	DDX47	12	12974938	Missense_Mutation	SNP	A	TCGA-BA-A6DF-01A-11D-A30E-08	3745467	12974938	120876957	118	6212											
DDX47	51202	broad.mit.edu	37	chr12	12977529	12977529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaggcccgttccattcttcTagcaactgacgttgccagcc	8	10	8	15	2	2	1	0	1	2	0	3	1	3	1	4	1	4	3	4	1	3	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:12977529T>C	ENST00000358007.3	+	9	975	c.953T>C	c.(952-954)cTa>cCa	p.L318P	RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.L269P	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	318	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCCATTCTTCTAGCAACTGAC	0.428													15	55					0	0	0	0	C	12977529	T	C	12977529	3	2	31	1	0	0	0	0	1	0	0	0	4397	1522	53	5	987	5	DDX47	12	12977529	Missense_Mutation	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08	2591	12977529	120874366	119	6213											
RPAP3	79657	broad.mit.edu	37	chr12	48060842	48060842	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtctttgtaagatttcaaaGatgagtaatggcttttcttt	11	18	8	4	0	3	3	1	1	2	2	3	3	3	3	0	1	0	3	0	1	3	7			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:48060842G>A	ENST00000005386.3	-	16	1948	c.1833C>T	c.(1831-1833)atC>atT	p.I611I	RPAP3_ENST00000432584.3_Silent_p.I452I|RPAP3_ENST00000380650.4_Silent_p.I577I	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	611							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AGATTTCAAAGATGAGTAATG	0.284													3	28					0	0	0	0	A	48060842	G	A	48060842	2	1	31	1	0	0	0	0	0	0	0	1	13628	932	33	2		2	RPAP3	12	48060842	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	35083313	48060842	85791053	120	6214											
RAP1B	5908	broad.mit.edu	37	chr12	69042539	69042539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctagtcgttcttggctcagGaggcgttggaaagtctgctt	6	13	14	8	2	3	0	1	0	2	0	4	2	3	2	0	4	1	5	0	4	2	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:69042539G>A	ENST00000250559.9	+	2	266	c.35G>A	c.(34-36)gGa>gAa	p.G12E	RAP1B_ENST00000341355.5_Missense_Mutation_p.G12E|RAP1B_ENST00000543697.1_Missense_Mutation_p.G12E|RAP1B_ENST00000393436.5_Missense_Mutation_p.G12E|RAP1B_ENST00000541216.1_Missense_Mutation_p.G12E|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000542145.1_Missense_Mutation_p.G12E|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000450214.2_Missense_Mutation_p.G12E|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000540209.1_Missense_Mutation_p.G12E|RAP1B_ENST00000539091.1_Missense_Mutation_p.G12E|RAP1B_ENST00000537460.1_Missense_Mutation_p.G12E	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	12					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CTTGGCTCAGGAGGCGTTGGA	0.363													8	29					0	0	0	0	A	69042539	G	A	69042539	3	1	31	1	0	0	0	0	1	0	0	0	13118	1174	41	2	37	2	RAP1B	12	69042539	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	20981697	69042539	64809356	121	6215											
ACACB	32	broad.mit.edu	37	chr12	109617881	109617881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgttaatctgccggccGcccagctacaggtgagaaaa	11	8	11	11	2	1	2	0	2	1	1	1	3	1	2	3	2	3	2	3	2	4	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:109617881G>A	ENST00000338432.7	+	11	1926	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T	ACACB_ENST00000377854.5_Missense_Mutation_p.A603T|ACACB_ENST00000377848.3_Missense_Mutation_p.A603T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	603	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCTGCCGGCCGCCCAGCTACA	0.562													12	58					0	0	0	0	A	109617881	G	A	109617881	3	1	31	1	0	0	0	0	1	0	0	0	107	1087	38	1	1845	1	ACACB	12	109617881	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	40575342	109617881	24234014	122	6216											
GOLGA3	2802	broad.mit.edu	37	chr12	133373153	133373153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctccagggatgccGccgagtccgccatcctctgc	4	8	12	17	3	1	0	0	0	1	0	4	2	4	1	6	1	4	3	6	1	0	0			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:133373153G>A	ENST00000204726.3	-	10	2630	c.2072C>T	c.(2071-2073)gCg>gTg	p.A691V	GOLGA3_ENST00000545875.1_Missense_Mutation_p.A691V|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A691V|GOLGA3_ENST00000450791.2_Missense_Mutation_p.A691V|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A691V	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	691	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAGGGATGCCGCCGAGTCCGC	0.627													30	251					0	0	0	0	A	133373153	G	A	133373153	3	1	31	1	0	0	0	0	1	0	0	0	6605	1087	38	1	2622	1	GOLGA3	12	133373153	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	23755272	133373153	478742	123	6217											
RCBTB1	55213	broad.mit.edu	37	chr13	50108311	50108311	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaatgaattcctttagcaGagggccatccatttgccaaa	13	10	8	10	0	0	2	0	1	0	1	2	2	2	2	4	1	3	2	4	1	4	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr13:50108311G>A	ENST00000378302.2	-	13	1803	c.1543C>T	c.(1543-1545)Ctg>Ttg	p.L515L	RCBTB1_ENST00000471984.1_5'UTR|RCBTB1_ENST00000258646.3_Silent_p.L515L	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	515					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TCCTTTAGCAGAGGGCCATCC	0.443													6	164					0	0	0	0	A	50108311	G	A	50108311	2	1	31	1	0	0	0	0	0	0	0	1	13253	933	33	2		2	RCBTB1	13	50108311	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08		50108311	65061567	124	6218											
NEK5	341676	broad.mit.edu	37	chr13	52646189	52646189	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaaaggtcaaagtttcAtttggtatatccattgccta	11	15	6	9	0	3	0	3	0	0	0	5	0	5	0	3	2	1	2	3	2	5	6			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr13:52646189A>C	ENST00000355568.4	-	21	1954	c.1815T>G	c.(1813-1815)aaT>aaG	p.N605K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	605							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCAAAGTTTCATTTGGTATAT	0.328													5	21					0	0	0	0	C	52646189	A	C	52646189	3	2	31	1	0	0	0	0	1	0	0	0	10397	214	8	5	319	5	NEK5	13	52646189	Missense_Mutation	SNP	A	TCGA-BA-A6DF-01A-11D-A30E-08	2537878	52646189	62523689	125	6219											
PCDH9	5101	broad.mit.edu	37	chr13	67802391	67802391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccagtctgtagacaaggCtggcgctggtccctgtggca	9	8	13	11	1	1	1	0	0	1	1	2	1	2	1	2	4	1	4	2	4	3	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr13:67802391C>T	ENST00000544246.1	-	2	873	c.182G>A	c.(181-183)aGc>aAc	p.S61N	PCDH9_ENST00000328454.5_Missense_Mutation_p.S61N|PCDH9_ENST00000456367.1_Missense_Mutation_p.S61N|PCDH9_ENST00000377865.2_Missense_Mutation_p.S61N|PCDH9_ENST00000377861.3_Missense_Mutation_p.S61N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	61	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTAGACAAGGCTGGCGCTGGT	0.463													5	90					0	0	0	0	T	67802391	C	T	67802391	3	4	31	1	0	0	0	0	1	0	0	0	11589	797	28	4	3547	4	PCDH9	13	67802391	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	15156202	67802391	47367487	126	6220											
MYH7	4625	broad.mit.edu	37	chr14	23894526	23894526	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttgtactccattctggcGagcacacctcgggactgggc	6	12	11	12	2	1	0	0	0	1	0	3	2	2	1	2	3	2	2	2	3	1	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr14:23894526G>A	ENST00000355349.3	-	21	2550	c.2388C>T	c.(2386-2388)ctC>ctT	p.L796L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	796	IQ.		L -> F (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		CCATTCTGGCGAGCACACCTC	0.592													9	53					0	0	0	0	A	23894526	G	A	23894526	2	1	31	1	0	0	0	0	0	0	0	1	10109	1045	37	1		1	MYH7	14	23894526	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08		23894526	83455014	127	6221											
TRIP11	9321	broad.mit.edu	37	chr14	92480763	92480763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcctcaaaatatctctgtCattttctgcagaagataatt	12	16	4	9	0	5	2	2	0	3	2	7	2	5	2	1	0	1	1	1	0	5	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr14:92480763C>T	ENST00000267622.4	-	7	1355	c.982G>A	c.(982-984)Gac>Aac	p.D328N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	328					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ATATCTCTGTCATTTTCTGCA	0.289			T	PDGFRB	AML								9	34					0	0	0	0	T	92480763	C	T	92480763	3	4	31	1	0	0	0	0	1	0	0	0	16650	826	29	2	5017	2	TRIP11	14	92480763	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	68586237	92480763	14868777	128	6222											
BTBD7	55727	broad.mit.edu	37	chr14	93730165	93730165	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggatagcagtaagcagaTggtctttgctgagttcataa	12	12	11	6	0	2	2	1	1	1	1	2	3	2	3	0	2	3	5	0	2	3	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr14:93730165T>A	ENST00000334746.5	-	4	1644	c.1337A>T	c.(1336-1338)cAt>cTt	p.H446L	BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Missense_Mutation_p.H95L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	446										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGTAAGCAGATGGTCTTTGCT	0.423													15	81					0	0	0	0	A	93730165	T	A	93730165	3	1	31	1	0	0	0	0	1	0	0	0	1555	1464	51	5	2093	5	BTBD7	14	93730165	Missense_Mutation	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08	1249402	93730165	13619375	129	6223											
CLMN	79789	broad.mit.edu	37	chr14	95669476	95669476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataagcctccaaaactgcaGccaggggaacctcatagtgt	13	7	9	12	0	1	0	1	0	0	0	2	1	2	1	4	2	5	1	4	2	5	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr14:95669476G>T	ENST00000298912.4	-	9	2323	c.2210C>A	c.(2209-2211)gCt>gAt	p.A737D		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	737						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CAAAACTGCAGCCAGGGGAAC	0.517													12	45					7.03913e-09	7.87546e-09	1	0	T	95669476	G	T	95669476	3	4	31	1	0	0	0	0	1	0	0	0	3572	971	34	4	818	4	CLMN	14	95669476	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	1939311	95669476	11680064	130	6224											
SPG11	80208	broad.mit.edu	37	chr15	44856771	44856771	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatctcttcaaatatactGgactttaataacctttgctg	13	15	5	8	0	2	0	1	0	1	0	3	2	2	1	1	1	3	1	1	1	6	7			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr15:44856771G>T	ENST00000261866.7	-	39	7141	c.7125C>A	c.(7123-7125)tcC>tcA	p.S2375S	SPG11_ENST00000535302.2_Silent_p.S2262S|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2375					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAAATATACTGGACTTTAATA	0.323													6	36					3.59834e-05	3.81795e-05	1	0	T	44856771	G	T	44856771	2	4	31	1	0	0	0	0	0	0	0	1	15131	1335	47	4		4	SPG11	15	44856771	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08		44856771	57674621	131	6225											
DUOX2	50506	broad.mit.edu	37	chr15	45402885	45402885	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttctgcaggaagctgggCagccactcatacacagcgat	10	9	11	11	1	2	0	1	0	1	0	2	2	2	1	1	2	5	4	1	2	2	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr15:45402885C>A	ENST00000389039.6	-	8	1291	c.906G>T	c.(904-906)ctG>ctT	p.L302L	DUOX2_ENST00000603300.1_Silent_p.L302L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	302	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGAAGCTGGGCAGCCACTCAT	0.617													11	50					1.08611e-07	1.20324e-07	1	0	A	45402885	C	A	45402885	2	1	31	1	0	0	0	0	0	0	0	1	4837	697	25	4		4	DUOX2	15	45402885	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	546114	45402885	57128507	132	6226											
ALDH1A2	8854	broad.mit.edu	37	chr15	58254352	58254354	+	In_Frame_Del	DEL	TTG	TTG	-																															tctggatgagttccaagatcTtgttgtactgtttcttatca																										TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr15:58254352_58254354delTTG	ENST00000249750.4	-	10	1874_1876	c.1107_1109delCAA	c.(1105-1110)aag>aa	p.NK369del	ALDH1A2_ENST00000558231.1_In_Frame_Del_p.NK340del|ALDH1A2_ENST00000537372.1_In_Frame_Del_p.NK348del|ALDH1A2_ENST00000347587.3_In_Frame_Del_p.NK331del|ALDH1A2_ENST00000559517.1_In_Frame_Del_p.NK273del	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	369					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTCCAAGATCTTGTTGTACTGTT	0.433													14	95	---	---	---	---					-	58254354	TTG	-	58254352	7	5	31	1	0	1	0	1	0	0	0	0	491	1609	56	0	463	0	ALDH1A2	15	58254352	In_Frame_Del	DEL	TTG	TCGA-BA-A6DF-01A-11D-A30E-08	12851467	58254352	44277040	133	6227											
ACAN	176	broad.mit.edu	37	chr15	89400811	89400811	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttccctagtggattctacAttggtggaagtggtcacagc	8	13	12	8	0	2	0	1	0	1	0	3	2	3	2	1	4	2	1	1	4	3	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr15:89400811A>G	ENST00000439576.2	+	12	5369	c.4995A>G	c.(4993-4995)acA>acG	p.T1665T	ACAN_ENST00000561243.1_Silent_p.T1665T|ACAN_ENST00000352105.7_Silent_p.T1665T|ACAN_ENST00000559004.1_Silent_p.T1665T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1665					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGGATTCTACATTGGTGGAAG	0.537													32	162					0	0	0	0	G	89400811	A	G	89400811	2	3	31	1	0	0	0	0	0	0	0	1	117	204	8	5		5	ACAN	15	89400811	Silent	SNP	A	TCGA-BA-A6DF-01A-11D-A30E-08	31146459	89400811	13130581	134	6228											
PKD1	5310	broad.mit.edu	37	chr16	2159044	2159044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcccagggcgttgaaggCgcgcacctggatctccaaca	9	6	12	14	3	1	1	0	1	1	0	2	2	1	2	3	3	2	2	3	3	2	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:2159044C>T	ENST00000262304.4	-	15	6332	c.6124G>A	c.(6124-6126)Gcc>Acc	p.A2042T	PKD1_ENST00000423118.1_Missense_Mutation_p.A2042T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2042	PKD 16.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGTTGAAGGCGCGCACCTGG	0.682													3	19					0	0	0	0	T	2159044	C	T	2159044	3	4	31	1	0	0	0	0	1	0	0	0	12035	768	27	1	6915	1	PKD1	16	2159044	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08		2159044	88195709	135	6229											
ADCY9	115	broad.mit.edu	37	chr16	4016809	4016809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagatccgcttccacgtctCcgtggtagtggaggcggtag	7	9	15	10	4	1	1	0	0	1	1	4	3	3	2	3	4	0	3	3	4	3	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:4016809C>T	ENST00000294016.3	-	11	3567	c.3029G>A	c.(3028-3030)gGa>gAa	p.G1010E		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1010					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTCCACGTCTCCGTGGTAGTG	0.572													36	174					0	0	0	0	T	4016809	C	T	4016809	3	4	31	1	0	0	0	0	1	0	0	0	301	855	30	2	1036	2	ADCY9	16	4016809	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	1857765	4016809	86337944	136	6230											
TMC7	79905	broad.mit.edu	37	chr16	19033066	19033066	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctcccagtcttactcacGaaatacaagatcaccaacag	14	9	5	13	1	3	1	2	0	1	1	4	2	4	1	2	0	4	1	2	0	5	3	rs111625310		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:19033066G>A	ENST00000421369.3	+	4	804	c.246G>A	c.(244-246)acG>acA	p.T82T	TMC7_ENST00000569532.1_Silent_p.T192T|TMC7_ENST00000304381.5_Silent_p.T192T	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	192						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCTTACTCACGAAATACAAGA	0.418													11	58					0	0	0	0	A	19033066	G	A	19033066	2	1	31	1	0	0	0	0	0	0	0	1	16084	1045	37	1		1	TMC7	16	19033066	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	15016257	19033066	71321687	137	6231											
KIAA0556	23247	broad.mit.edu	37	chr16	27772898	27772898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtactctgacgactccCgggccctggacaagtaagtg	9	7	12	13	3	1	1	0	1	1	0	2	4	2	2	3	2	1	2	3	2	3	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:27772898C>T	ENST00000261588.4	+	19	3815	c.3796C>T	c.(3796-3798)Cgg>Tgg	p.R1266W		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1266										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGACGACTCCCGGGCCCTGGA	0.542													5	46					0	0	0	0	T	27772898	C	T	27772898	3	4	31	1	0	0	0	0	1	0	0	0	8234	643	23	1	3870	1	KIAA0556	16	27772898	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	8739832	27772898	62581855	138	6232											
IRX6	79190	broad.mit.edu	37	chr16	55363084	55363084	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagtccccagagactcCgcgtgcgacgagtcttcctg	6	9	10	16	4	2	1	1	0	2	1	6	4	5	1	4	0	1	0	4	0	0	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:55363084C>T	ENST00000290552.7	+	5	2526	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	398						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCAGAGACTCCGCGTGCGACG	0.647													4	84					0	0	0	0	T	55363084	C	T	55363084	2	4	31	1	0	0	0	0	0	0	0	1	7901	639	23	1		1	IRX6	16	55363084	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	27590186	55363084	34991669	139	6233											
CTCF	10664	broad.mit.edu	37	chr16	67663416	67663438	+	Splice_Site	DEL	AAGAAGATTCCTCTGACAGTGGT	AAGAAGATTCCTCTGACAGTGGT	-																															aagaaagatgcgctctaagaAagaagattcctctgacagtg																										TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:67663416_67663438delAAGAAGATTCCTCTGACAGTGGT	ENST00000264010.4	+	10	2261_2281	c.1837_splice	c.e10+1	p.S606_splice	CTCF_ENST00000401394.1_Splice_Site_p.S278_splice	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	606					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.?(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CGCTCTAAGAAAGAAGATTCCTCTGACAGTGGTAAGTGACTTG	0.457													8	103	---	---	---	---					-	67663438	AAGAAGATTCCTCTGACAGTGGT	-	67663416	8	5	31	1	0	1	0	1	0	0	1	0	4032	14	1	0	1847	0	CTCF	16	67663416	Splice_Site	DEL	AAGAAGATTCCTCTGACAGTGGT	TCGA-BA-A6DF-01A-11D-A30E-08	12300332	67663416	22691337	140	6234											
POLR2A	5430	broad.mit.edu	37	chr17	7399626	7399626	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaatgaaagttttgcgCtgtgtctgcttcttctgctc	8	15	9	9	1	3	2	0	1	3	1	4	2	3	2	0	0	3	4	0	0	3	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:7399626C>T	ENST00000322644.6	+	3	723	c.324C>T	c.(322-324)cgC>cgT	p.R108R	POLR2A_ENST00000572844.1_Silent_p.R108R	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	108					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAGTTTTGCGCTGTGTCTGCT	0.562													30	163					0	0	0	0	T	7399626	C	T	7399626	2	4	31	1	0	0	0	0	0	0	0	1	12286	784	28	4		4	POLR2A	17	7399626	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08		7399626	73795584	141	6235											
PER1	5187	broad.mit.edu	37	chr17	8051406	8051406	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcctggggcaggtagccCagcaggggggcagccctgaa	8	4	18	11	0	0	1	0	1	0	0	1	1	1	1	3	7	3	4	3	7	2	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:8051406C>A	ENST00000317276.4	-	10	1380	c.1143G>T	c.(1141-1143)ctG>ctT	p.L381L	PER1_ENST00000581082.1_Silent_p.L361L|PER1_ENST00000354903.5_Silent_p.L365L	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	381	PAS 2.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCAGGTAGCCCAGCAGGGGGG	0.637			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					8	33					0.00307968	0.00314936	1	0	A	8051406	C	A	8051406	2	1	31	1	0	0	0	0	0	0	0	1	11800	581	21	4		4	PER1	17	8051406	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	651780	8051406	73143804	142	6236											
EVI2A	2123	broad.mit.edu	37	chr17	29645635	29645637	+	In_Frame_Del	DEL	TGT	TGT	-																															taagcaaattagcatagccaTgttgttgttgttttccgcac																										TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:29645635_29645637delTGT	ENST00000247270.3	-	3	800_802	c.464_466delACA	c.(463-468)atg>a	p.NM155del	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000461237.1_In_Frame_Del_p.NM132del|EVI2A_ENST00000462804.2_In_Frame_Del_p.NM132del|NF1_ENST00000581113.2_Intron|CTD-2370N5.3_ENST00000578584.1_In_Frame_Del_p.QH71del	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	132						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		AGCATAGCCATGTTGTTGTTGTT	0.365													18	96	---	---	---	---					-	29645637	TGT	-	29645635	7	5	31	1	0	1	0	1	0	0	0	0	5325	1464	51	0	317	0	EVI2A	17	29645635	In_Frame_Del	DEL	TGT	TCGA-BA-A6DF-01A-11D-A30E-08	21594229	29645635	51549575	143	6237											
RFFL	117584	broad.mit.edu	37	chr17	33341759	33341759	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagaaacaactacatacCgttttggtcttcggcaccac	14	9	6	12	2	1	1	0	0	1	1	2	1	1	1	2	2	5	2	2	2	5	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:33341759C>T	ENST00000315249.7	-	6	1132	c.910_splice	c.e6+1	p.G304_splice	RFFL_ENST00000415395.2_Splice_Site_p.G304_splice|RFFL_ENST00000378516.2_Intron|RFFL_ENST00000268850.7_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000584655.1_Intron|RFFL_ENST00000447669.2_Splice_Site_p.G304_splice|RFFL_ENST00000413582.2_Intron|RFFL_ENST00000394597.2_Splice_Site_p.G304_splice			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	304					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACTACATACCGTTTTGGTCT	0.438													4	120					0	0	0	0	T	33341759	C	T	33341759	5	4	31	1	0	0	0	0	0	0	1	0	13332	666	23	1	189	1	RFFL	17	33341759	Splice_Site	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	3696124	33341759	47853451	144	6238											
AP2B1	163	broad.mit.edu	37	chr17	33997895	33997895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcttggcagtgaccttggcgGgggcattggaggaagtccgg	6	8	19	8	2	0	1	0	1	0	0	1	3	1	3	2	7	0	3	2	7	1	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:33997895G>A	ENST00000312678.8	+	15	2139	c.2009G>A	c.(2008-2010)gGg>gAg	p.G670E	AP2B1_ENST00000589344.1_Missense_Mutation_p.G670E|AP2B1_ENST00000538556.1_Intron|AP2B1_ENST00000537622.2_Missense_Mutation_p.G670E|AP2B1_ENST00000262325.7_Intron|AP2B1_ENST00000592545.1_Missense_Mutation_p.G632E|AP2B1_ENST00000545922.2_3'UTR	NM_001030006.1	NP_001025177.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	663	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GACCTTGGCGGGGGCATTGGA	0.458													4	134					0	0	0	0	A	33997895	G	A	33997895	3	1	31	1	0	0	0	0	1	0	0	0	742	1232	43	4	2063	4	AP2B1	17	33997895	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	656136	33997895	47197315	145	6239											
ACLY	47	broad.mit.edu	37	chr17	40042444	40042444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagctcgttggacatgcCtccggaacgtgagacatagg	9	9	14	9	3	0	2	0	2	0	1	2	5	1	4	2	3	3	3	2	3	2	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:40042444C>T	ENST00000352035.2	-	18	2123	c.1993G>A	c.(1993-1995)Ggc>Agc	p.G665S	ACLY_ENST00000353196.1_Missense_Mutation_p.G655S|ACLY_ENST00000393896.2_Missense_Mutation_p.G655S|ACLY_ENST00000537919.1_Missense_Mutation_p.G394S|ACLY_ENST00000590151.1_Missense_Mutation_p.G665S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	665					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TTGGACATGCCTCCGGAACGT	0.567													43	193					0	0	0	0	T	40042444	C	T	40042444	3	4	31	1	0	0	0	0	1	0	0	0	143	681	24	4	1360	4	ACLY	17	40042444	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	6044549	40042444	41152766	146	6240											
UBTF	7343	broad.mit.edu	37	chr17	42290280	42290280	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgtccgatttcttggcAttctggattaggtcggggtg	5	14	16	6	2	2	0	0	0	2	0	4	3	3	2	1	6	0	1	1	6	1	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:42290280A>G	ENST00000302904.4	-	7	1059	c.567T>C	c.(565-567)aaT>aaC	p.N189N	UBTF_ENST00000436088.1_Silent_p.N189N|UBTF_ENST00000393606.3_Silent_p.N189N|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Silent_p.N189N|UBTF_ENST00000529383.1_Silent_p.N189N|UBTF_ENST00000343638.5_Silent_p.N189N|UBTF_ENST00000526094.1_Silent_p.N189N|UBTF_ENST00000527034.1_Silent_p.N189N			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	189					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATTTCTTGGCATTCTGGATTA	0.587													27	107					0	0	0	0	G	42290280	A	G	42290280	2	3	31	1	0	0	0	0	0	0	0	1	17005	214	8	5		5	UBTF	17	42290280	Silent	SNP	A	TCGA-BA-A6DF-01A-11D-A30E-08	2247836	42290280	38904930	147	6241											
BZRAP1	9256	broad.mit.edu	37	chr17	56387406	56387406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaacccagctcctcttcCtcctcctcctcctcctcttc	3	13	3	22	0	2	0	0	0	2	0	10	1	9	1	8	1	2	1	8	1	1	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:56387406C>T	ENST00000355701.3	-	21	4683	c.3813G>A	c.(3811-3813)gaG>gaA	p.E1271E	BZRAP1_ENST00000268893.6_Silent_p.E1211E|BZRAP1_ENST00000343736.4_Silent_p.E1271E	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1271	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					Gctcctcttcctcctcctcct	0.592													4	96					0	0	0	0	T	56387406	C	T	56387406	2	4	31	1	0	0	0	0	0	0	0	1	1586	680	24	4		4	BZRAP1	17	56387406	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	14097126	56387406	24807804	148	6242											
KCNH6	81033	broad.mit.edu	37	chr17	61613164	61613164	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccttcgcgctcatagcGcactggctggcctgcatctg	5	10	11	15	3	2	0	1	0	1	0	3	0	2	0	2	2	3	5	2	2	1	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:61613164G>A	ENST00000583023.1	+	6	1247	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A	KCNH6_ENST00000314672.5_Silent_p.A412A|KCNH6_ENST00000456941.2_Silent_p.A412A|KCNH6_ENST00000581784.1_Silent_p.A412A|KCNH6_ENST00000580652.1_Silent_p.A412A	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	412					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CGCTCATAGCGCACTGGCTGG	0.627													4	123					0	0	0	0	A	61613164	G	A	61613164	2	1	31	1	0	0	0	0	0	0	0	1	8089	1074	38	1		1	KCNH6	17	61613164	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	5225758	61613164	19582046	149	6243											
POLG2	11232	broad.mit.edu	37	chr17	62493003	62493003	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccgtcaacagctccggctgCcccgcatctactcgaccccc	6	7	7	21	4	2	0	1	0	1	0	5	1	4	0	6	1	4	3	6	1	2	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:62493003C>T	ENST00000539111.2	-	1	151	c.84G>A	c.(82-84)ggG>ggA	p.G28G		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	28					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GCTCCGGCTGCCCCGCATCTA	0.622													22	97					0	0	0	0	T	62493003	C	T	62493003	2	4	31	1	0	0	0	0	0	0	0	1	12273	726	26	4		4	POLG2	17	62493003	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	879839	62493003	18702207	150	6244											
ZACN	353174	broad.mit.edu	37	chr17	74076046	74076046	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgctgccctgggagtctctCtggacaccaaggctcaccat	8	8	10	15	1	3	0	1	0	2	0	4	2	3	2	3	3	1	2	3	3	1	0			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:74076046C>G	ENST00000334586.5	+	4	428	c.345C>G	c.(343-345)ctC>ctG	p.L115L	ZACN_ENST00000392503.2_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	115					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GGGAGTCTCTCTGGACACCAA	0.607													3	10					0	0	0	0	G	74076046	C	G	74076046	2	3	31	1	0	0	0	0	0	0	0	1	17606	900	32	2		2	ZACN	17	74076046	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	11583043	74076046	7119164	151	6245											
FN3KRP	79672	broad.mit.edu	37	chr17	80680699	80680699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagaggaggtgggcaggaGgaacggccctttgtggcccg	7	5	21	8	2	0	1	0	0	0	1	0	5	0	4	2	8	1	1	2	8	1	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:80680699G>A	ENST00000269373.6	+	4	478	c.405G>A	c.(403-405)gaG>gaA	p.E135E	FN3KRP_ENST00000535965.1_Silent_p.E85E	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	135							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GTGGGCAGGAGGAACGGCCCT	0.532													11	56					0	0	0	0	A	80680699	G	A	80680699	2	1	31	1	0	0	0	0	0	0	0	1	6009	991	35	4		4	FN3KRP	17	80680699	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	6604653	80680699	514511	152	6246											
FN3KRP	79672	broad.mit.edu	37	chr17	80680718	80680718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacggccctttgtggccCggtttggatttgacgtggtg	5	12	16	8	3	0	1	0	1	0	0	0	3	0	3	2	6	1	1	2	6	1	3	rs144422621		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:80680718C>T	ENST00000269373.6	+	4	497	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	FN3KRP_ENST00000535965.1_Missense_Mutation_p.R92W	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	142							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTTTGTGGCCCGGTTTGGATT	0.537													12	50					0	0	0	0	T	80680718	C	T	80680718	3	4	31	1	0	0	0	0	1	0	0	0	6009	643	23	1	438	1	FN3KRP	17	80680718	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	19	80680718	514492	153	6247											
FN3KRP	79672	broad.mit.edu	37	chr17	80685036	80685036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaacatcatgaggaatCtggtcaagtgagcgggcctt	10	9	12	10	1	3	3	2	3	1	0	3	4	3	4	2	3	2	0	2	3	3	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:80685036C>A	ENST00000269373.6	+	6	992	c.919C>A	c.(919-921)Ctg>Atg	p.L307M	FN3KRP_ENST00000535965.1_Missense_Mutation_p.L257M	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	307							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CATGAGGAATCTGGTCAAGTG	0.493													12	88					0.0135373	0.0137194	1	0	A	80685036	C	A	80685036	3	1	31	1	0	0	0	0	1	0	0	0	6009	912	32	2	941	2	FN3KRP	17	80685036	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	4318	80685036	510174	154	6248											
PTPN2	5771	broad.mit.edu	37	chr18	12825830	12825845	+	Frame_Shift_Del	DEL	TAGATGTACTGTATAA	TAGATGTACTGTATAA	-																															ttgatattttctaattgtagTagatgtactgtataatacga																										TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr18:12825830_12825845delTAGATGTACTGTATAA	ENST00000309660.5	-	5	552_567	c.459_474delTTATACAGTACATCTA	c.(457-474)tafs	p.YYTVHL153fs	PTPN2_ENST00000591115.1_Frame_Shift_Del_p.YYTVHL153fs|PTPN2_ENST00000591497.1_Frame_Shift_Del_p.YYTVHL124fs|PTPN2_ENST00000353319.4_Frame_Shift_Del_p.YYTVHL153fs|PTPN2_ENST00000327283.3_Frame_Shift_Del_p.YYTVHL153fs	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	153	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CTAATTGTAGTAGATGTACTGTATAATACGACTTCA	0.333													7	68	---	---	---	---					-	12825845	TAGATGTACTGTATAA	-	12825830	7	5	31	1	0	1	0	1	0	0	0	0	12865	1625	57	0	819	0	PTPN2	18	12825830	Frame_Shift_Del	DEL	TAGATGTACTGTATAA	TCGA-BA-A6DF-01A-11D-A30E-08		12825830	65251418	155	6249											
GATA6	2627	broad.mit.edu	37	chr18	19780729	19780729	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcagtctcgcctcgccGgccgaagtcacgtcctccgt	4	8	12	17	7	3	0	2	0	1	0	7	1	5	0	5	2	0	0	5	2	1	0	rs144224065		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr18:19780729G>A	ENST00000269216.3	+	7	2008	c.1731G>A	c.(1729-1731)ccG>ccA	p.P577P	RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Silent_p.P577P	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	577					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			TCGCCTCGCCGGCCGAAGTCA	0.677													4	64					0	0	0	0	A	19780729	G	A	19780729	2	1	31	1	0	0	0	0	0	0	0	1	6307	1103	39	1		1	GATA6	18	19780729	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	6954899	19780729	58296519	156	6250											
POLI	11201	broad.mit.edu	37	chr18	51818389	51818389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcattatcaactacttcacGctctggcaagcacagttttg	11	13	6	11	1	4	0	3	0	1	0	4	0	4	0	0	1	3	4	0	1	4	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr18:51818389G>A	ENST00000579534.1	+	9	1528	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	POLI_ENST00000579434.1_Missense_Mutation_p.R359H|POLI_ENST00000406285.3_Missense_Mutation_p.R383H|POLI_ENST00000217800.5_Missense_Mutation_p.R336H|POLI_ENST00000582366.1_3'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	462					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		ACTACTTCACGCTCTGGCAAG	0.353								DNA polymerases (catalytic subunits)					10	79					0	0	0	0	A	51818389	G	A	51818389	3	1	31	1	0	0	0	0	1	0	0	0	12275	1087	38	1	1419	1	POLI	18	51818389	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	32037660	51818389	26258859	157	6251											
KIAA1468	57614	broad.mit.edu	37	chr18	59972701	59972701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatacaaagaccaagtttttGaacaaaatgggccagttgac	16	9	9	7	0	0	3	0	2	0	1	0	4	0	3	2	1	2	2	2	1	6	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr18:59972701G>C	ENST00000256858.6	+	30	3935	c.3687G>C	c.(3685-3687)ttG>ttC	p.L1229F	KIAA1468_ENST00000398130.2_Missense_Mutation_p.L1195F			Q9P260	K1468_HUMAN	KIAA1468	1195							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CCAAGTTTTTGAACAAAATGG	0.358													25	128					0	0	0	0	C	59972701	G	C	59972701	3	2	31	1	0	0	0	0	1	0	0	0	8287	1281	45	2	3699	2	KIAA1468	18	59972701	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	8154312	59972701	18104547	158	6252											
MIDN	90007	broad.mit.edu	37	chr19	1255048	1255048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgccccgggggtcttctcaGggaccttctctggtaggtgt	4	11	14	12	2	3	0	1	0	3	0	5	1	3	1	3	5	0	1	3	5	1	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:1255048G>A	ENST00000300952.2	+	6	1359	c.844G>A	c.(844-846)Ggg>Agg	p.G282R	MIDN_ENST00000591446.2_Missense_Mutation_p.G282R	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	282						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GGTCTTCTCAGGGACCTTCTC	0.627													15	63					0	0	0	0	A	1255048	G	A	1255048	3	1	31	1	0	0	0	0	1	0	0	0	9648	1000	35	4	862	4	MIDN	19	1255048	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08		1255048	57873935	159	6253											
TMIGD2	126259	broad.mit.edu	37	chr19	4294804	4294804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatccggtttctgttctgtGtggggtcatctgcagagaag	6	13	14	8	2	4	1	1	0	3	1	5	3	5	1	1	3	1	3	1	3	1	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:4294804G>A	ENST00000301272.2	-	3	461	c.416C>T	c.(415-417)aCa>aTa	p.T139I	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Missense_Mutation_p.T19I|TMIGD2_ENST00000595645.1_Missense_Mutation_p.T139I	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	139						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGTTCTGTGTGGGGTCATC	0.592													7	51					0	0	0	0	A	4294804	G	A	4294804	3	1	31	1	0	0	0	0	1	0	0	0	16325	1377	48	4	444	4	TMIGD2	19	4294804	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	3039756	4294804	54834179	160	6254											
ELAVL1	1994	broad.mit.edu	37	chr19	8045975	8045975	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatccctttaccttaatggTttttgactggagcctcaagc	9	14	8	10	0	1	2	1	1	0	1	2	3	2	3	3	2	3	1	3	2	3	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:8045975T>G	ENST00000407627.2	-	3	397	c.268A>C	c.(268-270)Acc>Ccc	p.T90P	ELAVL1_ENST00000596459.1_Missense_Mutation_p.T90P|ELAVL1_ENST00000593807.1_Missense_Mutation_p.T90P|ELAVL1_ENST00000351593.5_Missense_Mutation_p.T117P	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	90	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACCTTAATGGTTTTTGACTGG	0.562													11	48					0	0	0	0	G	8045975	T	G	8045975	3	3	31	1	0	0	0	0	1	0	0	0	5087	1725	60	5	728	5	ELAVL1	19	8045975	Missense_Mutation	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08	3751171	8045975	51083008	161	6255											
MUC16	94025	broad.mit.edu	37	chr19	9070969	9070969	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcttctcagacgtgcTgctctccctcagtctagggc	4	12	11	14	1	5	1	2	0	4	1	7	1	5	1	1	2	2	3	1	2	1	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:9070969T>C	ENST00000397910.4	-	3	16680	c.16477A>G	c.(16477-16479)Agc>Ggc	p.S5493G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5495	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						TCAGACGTGCTGCTCTCCCTC	0.483													13	88					0	0	0	0	C	9070969	T	C	9070969	3	2	31	1	0	0	0	0	1	0	0	0	10043	1580	55	5	27374	5	MUC16	19	9070969	Missense_Mutation	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08	1024994	9070969	50058014	162	6256											
RGL3	57139	broad.mit.edu	37	chr19	11526654	11526654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcctgctctcgctcaGcctcctccaaaaaatcttcc	7	12	3	19	1	4	0	1	0	3	0	9	0	8	0	6	0	2	2	6	0	3	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:11526654G>A	ENST00000380456.3	-	5	659	c.596C>T	c.(595-597)gCt>gTt	p.A199V	RGL3_ENST00000393423.3_Missense_Mutation_p.A199V	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	199	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTCTCGCTCAGCCTCCTCCAA	0.577													67	252					0	0	0	0	A	11526654	G	A	11526654	3	1	31	1	0	0	0	0	1	0	0	0	13360	971	34	4	1614	4	RGL3	19	11526654	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	2455685	11526654	47602329	163	6257											
LPHN1	22859	broad.mit.edu	37	chr19	14263627	14263627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtagtagcgggtgttgcttCgcatggctgaggtcttgagg	5	13	17	6	2	1	2	0	2	1	0	2	2	1	2	0	4	2	6	0	4	2	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:14263627C>T	ENST00000340736.6	-	20	3704	c.3407G>A	c.(3406-3408)cGa>cAa	p.R1136Q	LPHN1_ENST00000361434.3_Missense_Mutation_p.R1131Q|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1136					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTGTTGCTTCGCATGGCTGA	0.627													19	112					0	0	0	0	T	14263627	C	T	14263627	3	4	31	1	0	0	0	0	1	0	0	0	8979	884	31	1	1037	1	LPHN1	19	14263627	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	2736973	14263627	44865356	164	6258											
AKAP8L	26993	broad.mit.edu	37	chr19	15512056	15512056	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagccgcccgggaaggCgcccccacctcgcatgccct	5	3	14	19	5	0	0	0	0	0	0	1	2	0	2	6	3	2	1	6	3	1	0			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:15512056C>A	ENST00000397410.4	-	5	785	c.721G>T	c.(721-723)Gcc>Tcc	p.A241S	AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Missense_Mutation_p.A180S	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	241						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCGGGAAGGCGCCCCCACCT	0.642													42	247					8.20599e-20	9.65913e-20	1	0	A	15512056	C	A	15512056	3	1	31	1	0	0	0	0	1	0	0	0	458	768	27	3	1259	3	AKAP8L	19	15512056	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	1248429	15512056	43616927	165	6259											
ZNF492	57615	broad.mit.edu	37	chr19	22846645	22846646	+	Frame_Shift_Ins	INS	-	-	A																															acctttggccaaagcagggcINSaaaaaaaattatttccaaaa																										TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:22846645_22846646insA	ENST00000456783.2	+	4	418_419	c.174_175insA	c.(172-177)ggaaaafs	p.GK58fs		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CAAAGCAGGGCAAAAAAAATTA	0.302													7	10	---	---	---	---					A	22846646	-	A	22846645	7	5	31	1	0	1	1	0	0	0	0	0	18038	697	25	0	184	0	ZNF492	19	22846645	Frame_Shift_Ins	INS	-	TCGA-BA-A6DF-01A-11D-A30E-08	7334589	22846645	36282338	166	6260											
ANKRD27	84079	broad.mit.edu	37	chr19	33113417	33113417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcaatgtctctatgaCgccttggtagccccagcggg	7	9	12	13	2	1	1	0	1	1	0	2	1	1	1	3	2	4	3	3	2	3	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:33113417C>T	ENST00000306065.4	-	18	1896	c.1738G>A	c.(1738-1740)Gtc>Atc	p.V580I		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	580					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.V580I(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GTCTCTATGACGCCTTGGTAG	0.537													34	127					0	0	0	0	T	33113417	C	T	33113417	3	4	31	1	0	0	0	0	1	0	0	0	655	536	19	1	1462	1	ANKRD27	19	33113417	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	10266772	33113417	26015566	167	6261											
MAG	4099	broad.mit.edu	37	chr19	35786626	35786626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccggatgagctgcggcccGctgtggtgcatggtgtctgg	3	10	17	11	3	1	1	0	1	1	0	2	2	2	2	2	5	3	3	2	5	0	0			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:35786626G>A	ENST00000361922.4	+	4	307	c.157G>A	c.(157-159)Gct>Act	p.A53T	MAG_ENST00000537831.2_Missense_Mutation_p.A28T|MAG_ENST00000392213.3_Missense_Mutation_p.A53T|MAG_ENST00000597035.1_Missense_Mutation_p.A53T	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	53	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.A53T(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCTGCGGCCCGCTGTGGTGCA	0.622													5	148					0	0	0	0	A	35786626	G	A	35786626	3	1	31	1	0	0	0	0	1	0	0	0	9227	1087	38	1	163	1	MAG	19	35786626	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	2673209	35786626	23342357	168	6262											
RYR1	6261	broad.mit.edu	37	chr19	39025965	39025965	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccctctgcagaaaatgctgGattatcttaaggacaagaag	14	9	10	8	0	2	2	0	0	2	2	2	4	2	4	1	2	2	2	1	2	6	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:39025965G>C	ENST00000355481.4	+	80	11565	c.11434G>C	c.(11434-11436)Gat>Cat	p.D3812H	RYR1_ENST00000359596.3_Missense_Mutation_p.D3817H|RYR1_ENST00000360985.3_Missense_Mutation_p.D3817H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3817					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAAAATGCTGGATTATCTTAA	0.507													5	99					0	0	0	0	C	39025965	G	C	39025965	3	2	31	1	0	0	0	0	1	0	0	0	13853	1174	41	2	11771	2	RYR1	19	39025965	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	3239339	39025965	20103018	169	6263											
MEGF8	1954	broad.mit.edu	37	chr19	42880569	42880569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacctcccgccttccgccGctctgagcccttcctggcac	3	8	7	23	3	1	1	0	1	1	0	4	1	4	1	8	1	1	2	8	1	0	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:42880569G>T	ENST00000334370.4	+	41	8614	c.7979G>T	c.(7978-7980)cGc>cTc	p.R2660L	MEGF8_ENST00000378073.4_Missense_Mutation_p.R321L|MEGF8_ENST00000251268.6_Missense_Mutation_p.R2727L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2727						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCTTCCGCCGCTCTGAGCCC	0.731													3	17					0.00909568	0.00925957	1	0	T	42880569	G	T	42880569	3	4	31	1	0	0	0	0	1	0	0	0	9532	1087	38	3	8141	3	MEGF8	19	42880569	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	3854604	42880569	16248414	170	6264											
PSG8	440533	broad.mit.edu	37	chr19	43258583	43258583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatgctttgtagtaatttggGggataaagagcttttgtcct	9	17	11	4	0	0	1	0	0	0	1	1	2	1	2	1	2	2	4	1	2	5	8			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:43258583G>T	ENST00000404209.4	-	5	1241	c.1145C>A	c.(1144-1146)cCc>cAc	p.P382H	PSG8_ENST00000401467.2_Missense_Mutation_p.P289H|PSG8_ENST00000406636.3_Missense_Mutation_p.P260H|PSG8_ENST00000306511.4_Missense_Mutation_p.P382H|PSG8_ENST00000600709.1_5'UTR	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	382	Ig-like C2-type 3.					extracellular region		p.P382L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGTAATTTGGGGGATAAAGAG	0.463													8	438					7.48243e-07	8.16922e-07	1	0	T	43258583	G	T	43258583	3	4	31	1	0	0	0	0	1	0	0	0	12740	1232	43	4	160	4	PSG8	19	43258583	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	378014	43258583	15870400	171	6265											
PSG11	5680	broad.mit.edu	37	chr19	43528980	43528980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattggaatatactgtttctCgtccactgtatgccggtcca	8	14	8	11	2	1	0	0	0	1	0	4	1	3	1	3	2	2	2	3	2	4	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:43528980C>T	ENST00000401740.1	-	2	396	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.R98Q			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	98	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TACTGTTTCTCGTCCACTGTA	0.448													68	259					0	0	0	0	T	43528980	C	T	43528980	3	4	31	1	0	0	0	0	1	0	0	0	12733	884	31	1	730	1	PSG11	19	43528980	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	270397	43528980	15600003	172	6266											
PRKCG	5582	broad.mit.edu	37	chr19	54385779	54385779	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccccggcgtaggcgatTcagaggggggaccccggccc	5	4	18	14	4	1	1	1	0	0	1	1	3	1	2	5	7	0	1	5	7	1	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:54385779T>A	ENST00000263431.3	+	1	313	c.31T>A	c.(31-33)Tca>Aca	p.S11T	PRKCG_ENST00000536044.1_Missense_Mutation_p.S11T|PRKCG_ENST00000540413.1_Missense_Mutation_p.S11T	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	11					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CGTAGGCGATTCAGAGGGGGG	0.617													47	188					0	0	0	0	A	54385779	T	A	54385779	3	1	31	1	0	0	0	0	1	0	0	0	12592	1783	62	5	33	5	PRKCG	19	54385779	Missense_Mutation	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08	10856799	54385779	4743204	173	6267											
ZNF324	25799	broad.mit.edu	37	chr19	58982600	58982600	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacctgggacgagctgggCgaggctcttcacgctgggga	6	7	17	11	4	2	0	1	0	1	0	3	5	2	2	1	5	1	3	1	5	0	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:58982600C>A	ENST00000536459.2	+	4	1450	c.741C>A	c.(739-741)ggC>ggA	p.G247G	ZNF324_ENST00000196482.3_Silent_p.G247G|ZNF324_ENST00000535298.1_Silent_p.G24G			O75467	Z324A_HUMAN	zinc finger protein 324	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACGAGCTGGGCGAGGCTCTTC	0.637													14	36					9.05144e-12	1.03314e-11	1	0	A	58982600	C	A	58982600	2	1	31	1	0	0	0	0	0	0	0	1	17939	755	27	3		3	ZNF324	19	58982600	Silent	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	4596821	58982600	146383	174	6268											
PLCB4	5332	broad.mit.edu	37	chr20	9402028	9402028	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttgcccactgacaccataCgtaaggaattccgaactcgc	11	8	9	13	3	0	1	0	1	0	0	2	3	1	2	3	2	3	2	3	2	4	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr20:9402028C>G	ENST00000378501.2	+	23	2218	c.2203C>G	c.(2203-2205)Cgt>Ggt	p.R735G	PLCB4_ENST00000378473.3_Missense_Mutation_p.R747G|PLCB4_ENST00000334005.3_Missense_Mutation_p.R735G|PLCB4_ENST00000278655.4_Missense_Mutation_p.R735G|PLCB4_ENST00000414679.2_Missense_Mutation_p.R747G|PLCB4_ENST00000378493.1_Missense_Mutation_p.R735G|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	735	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGACACCATACGTAAGGAATT	0.413													5	84					0	0	0	0	G	9402028	C	G	9402028	3	3	31	1	0	0	0	0	1	0	0	0	12102	536	19	3	2333	3	PLCB4	20	9402028	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08		9402028	53623492	175	6269											
RAE1	8480	broad.mit.edu	37	chr20	55929772	55929772	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacttttttcccgcaggataTtgaagtaacatcatctcctg	10	14	7	10	1	2	1	1	1	1	0	4	3	3	2	2	1	1	2	2	1	3	6			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr20:55929772T>C	ENST00000395841.2	+	3	515	c.95T>C	c.(94-96)aTt>aCt	p.I32T	RAE1_ENST00000527947.1_Missense_Mutation_p.I32T|RAE1_ENST00000371242.2_Missense_Mutation_p.I32T|RAE1_ENST00000395840.2_Missense_Mutation_p.I32T	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	32					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			CCGCAGGATATTGAAGTAACA	0.413													10	51					0	0	0	0	C	55929772	T	C	55929772	3	2	31	1	0	0	0	0	1	0	0	0	13080	1493	52	5	101	5	RAE1	20	55929772	Missense_Mutation	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08	46527744	55929772	7095748	176	6270											
BAGE2	85319	broad.mit.edu	37	chr21	11047461	11047462	+	RNA	INS	-	-	A																															ataaaacatacagaggatttINSaaaaaagtaaacaacttact																										TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr21:11047461_11047462insA	ENST00000470054.1	-	0	774									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACAGAGGATTTAAAAAAGTAAA	0.312													7	224	---	---	---	---					A	11047462	-	A	11047461	6	5	31	0	1	1	1	0	0	0	0	0	1296	1769	61	0		0	BAGE2	21	11047461	RNA	INS	-	TCGA-BA-A6DF-01A-11D-A30E-08		11047461	37082434	177	6271											
DYRK1A	1859	broad.mit.edu	37	chr21	38862527	38862527	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatctctgtttagtttttGaaatgctgtcctacaacctc	9	16	5	11	0	1	1	0	1	1	0	4	1	2	1	3	0	3	3	3	0	4	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr21:38862527G>T	ENST00000339659.3	+	6	2158	c.688G>T	c.(688-690)Gaa>Taa	p.E230*	DYRK1A_ENST00000455387.2_Nonsense_Mutation_p.E11*|DYRK1A_ENST00000338785.3_Nonsense_Mutation_p.E239*|DYRK1A_ENST00000398956.2_Nonsense_Mutation_p.E239*|DYRK1A_ENST00000451934.1_Nonsense_Mutation_p.E239*|DYRK1A_ENST00000398960.2_Nonsense_Mutation_p.E239*|DYRK1A_ENST00000321219.8_Nonsense_Mutation_p.E239*	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	239	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TTTAGTTTTTGAAATGCTGTC	0.378													11	57					1.08611e-07	1.20324e-07	1	0	T	38862527	G	T	38862527	4	4	31	1	0	0	0	0	0	1	0	0	4890	1291	45	2	737	2	DYRK1A	21	38862527	Nonsense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	27815066	38862527	9267368	178	6272											
PDGFB	5155	broad.mit.edu	37	chr22	39627811	39627811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcactcggcgatcatggccGgctcagcaatggtcagggaa	9	7	14	11	3	3	0	3	0	0	0	4	2	3	1	1	5	2	3	1	5	2	0			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:39627811G>A	ENST00000331163.6	-	4	1059	c.272C>T	c.(271-273)cCg>cTg	p.P91L	PDGFB_ENST00000381551.4_Missense_Mutation_p.P76L	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	91					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GATCATGGCCGGCTCAGCAAT	0.652			T	COL1A1	DFSP								9	22					0	0	0	0	A	39627811	G	A	39627811	3	1	31	1	0	0	0	0	1	0	0	0	11729	1116	39	1	465	1	PDGFB	22	39627811	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08		39627811	11676755	179	6273											
SEPT3	55964	broad.mit.edu	37	chr22	42390637	42390637	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctaggacccacctccaGgacctcaaggaagtgacaca	12	6	8	15	0	2	1	1	1	1	0	4	4	4	4	5	3	0	0	5	3	3	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:42390637G>A	ENST00000396425.3	+	10	1061	c.930G>A	c.(928-930)caG>caA	p.Q310Q	SEPT3_ENST00000396426.3_Silent_p.Q310Q|SEPT3_ENST00000406029.1_Silent_p.Q246Q|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000291236.11_Silent_p.Q246Q	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	310					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CCCACCTCCAGGACCTCAAGG	0.577													16	69					0	0	0	0	A	42390637	G	A	42390637	2	1	31	1	0	0	0	0	0	0	0	1	14152	991	35	4		4	SEPT3	22	42390637	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	2762826	42390637	8913929	180	6274											
PKDREJ	10343	broad.mit.edu	37	chr22	46658193	46658193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attagctgttatgttggcatCgccaagcatcaccgcctgca	9	11	9	12	2	1	0	1	0	0	0	2	0	1	0	3	1	3	6	3	1	3	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:46658193C>T	ENST00000253255.5	-	1	1026	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	343	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATGTTGGCATCGCCAAGCATC	0.572													47	169					0	0	0	0	T	46658193	C	T	46658193	3	4	31	1	0	0	0	0	1	0	0	0	12042	884	31	1	5738	1	PKDREJ	22	46658193	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	4267556	46658193	4646373	181	6275											
PNPLA4	8228	broad.mit.edu	37	chrX	7889801	7889801	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggagactaagtgattttCtctggttttggcgttggtga	7	16	14	4	1	1	3	0	2	1	1	2	4	1	3	0	4	0	2	0	4	1	6			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:7889801C>A	ENST00000381042.4	-	4	534	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	PNPLA4_ENST00000537427.1_Nonsense_Mutation_p.E35*|PNPLA4_ENST00000444736.1_Nonsense_Mutation_p.E122*	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	122	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				AAGTGATTTTCTCTGGTTTTG	0.458													22	70					1.50039e-11	1.70396e-11	1	0	A	7889801	C	A	7889801	4	1	31	1	0	0	0	0	0	1	0	0	12239	922	32	2	413	2	PNPLA4	23	7889801	Nonsense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08		7889801	147380759	182	6276											
ASB9	140462	broad.mit.edu	37	chrX	15262664	15262664	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aactgtttcagatcctctggGaggacgagtttggttatctt	8	15	11	7	1	3	1	1	0	2	1	4	4	4	3	1	3	1	3	1	3	2	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:15262664G>A	ENST00000380488.4	-	7	1122	c.849C>T	c.(847-849)ctC>ctT	p.L283L	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_3'UTR|ASB9_ENST00000380485.3_3'UTR|ASB9_ENST00000546332.1_3'UTR	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	283	SOCS box.				intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GATCCTCTGGGAGGACGAGTT	0.423													5	123					0	0	0	0	A	15262664	G	A	15262664	2	1	31	1	0	0	0	0	0	0	0	1	1034	1161	41	2		2	ASB9	23	15262664	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	7372863	15262664	140007896	183	6277											
APOO	79135	broad.mit.edu	37	chrX	23898999	23898999	+	Frame_Shift_Del	DEL	T	T	-																															aatttttgggaggtgagtccTtttttggtgctgcatagact																										TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:23898999delT	ENST00000379226.4	-	2	311	c.80delA	c.(79-81)agfs	p.K27fs	APOO_ENST00000379220.3_Frame_Shift_Del_p.K27fs	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	27					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						AGGTGAGTCCTTTTTTGGTGC	0.428													13	60	---	---	---	---					-	23898999	T	-	23898999	7	5	31	1	0	1	0	1	0	0	0	0	815	1609	56	0	544	0	APOO	23	23898999	Frame_Shift_Del	DEL	T	TCGA-BA-A6DF-01A-11D-A30E-08	8636335	23898999	131371561	184	6278											
MAGEB3	4114	broad.mit.edu	37	chrX	30254196	30254196	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgggggctactatccagaAaaagtctgctggtaggtcac	10	11	12	8	0	2	1	1	0	1	1	3	1	3	1	1	4	2	3	1	4	5	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:30254196A>C	ENST00000361644.2	+	5	892	c.155A>C	c.(154-156)aAa>aCa	p.K52T	MAGEB3_ENST00000378986.1_Missense_Mutation_p.K52T	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	52										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						ACTATCCAGAAAAAGTCTGCT	0.458													5	36					0	0	0	0	C	30254196	A	C	30254196	3	2	31	1	0	0	0	0	1	0	0	0	9246	14	1	5	157	5	MAGEB3	23	30254196	Missense_Mutation	SNP	A	TCGA-BA-A6DF-01A-11D-A30E-08	6355197	30254196	125016364	185	6279											
MAGEB4	4115	broad.mit.edu	37	chrX	30260337	30260337	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaggatctcaaggttggtCagcctactgcagcagagaaa	12	7	11	11	0	2	1	2	0	1	1	3	3	2	2	2	3	4	3	2	3	3	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:30260337C>T	ENST00000378982.2	+	1	281	c.85C>T	c.(85-87)Cag>Tag	p.Q29*		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	29										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CAAGGTTGGTCAGCCTACTGC	0.567													6	39					0	0	0	0	T	30260337	C	T	30260337	4	4	31	1	0	0	0	0	0	1	0	0	9247	827	29	2	87	2	MAGEB4	23	30260337	Nonsense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	6141	30260337	125010223	186	6280											
DMD	1756	broad.mit.edu	37	chrX	31676189	31676189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatctgcagaataatcccGgagaagtttcagggccaagt	13	9	10	9	1	3	2	2	0	1	2	4	3	4	2	2	2	1	2	2	2	4	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:31676189G>A	ENST00000357033.4	-	54	8151	c.7945C>T	c.(7945-7947)Cgg>Tgg	p.R2649W	DMD_ENST00000378707.3_Missense_Mutation_p.R189W|DMD_ENST00000378677.2_Missense_Mutation_p.R2645W|DMD_ENST00000474231.1_Missense_Mutation_p.R189W|DMD_ENST00000359836.1_Missense_Mutation_p.R189W|DMD_ENST00000541735.1_Missense_Mutation_p.R189W|DMD_ENST00000343523.2_Missense_Mutation_p.R189W	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2649					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R189W(2)|p.R2645W(2)|p.R2644W(1)|p.R1308W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAATAATCCCGGAGAAGTTTC	0.393													16	77					0	0	0	0	A	31676189	G	A	31676189	3	1	31	1	0	0	0	0	1	0	0	0	4617	1115	39	1	3364	1	DMD	23	31676189	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	1415852	31676189	123594371	187	6281											
GRIPAP1	56850	broad.mit.edu	37	chrX	48846087	48846087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaactgggctttgtgatcaGcttccttccgttgttgtaat	6	16	9	10	1	1	1	1	1	0	0	3	1	3	1	3	1	2	5	3	1	2	6			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:48846087G>C	ENST00000376423.4	-	10	679	c.647C>G	c.(646-648)gCt>gGt	p.A216G	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.A269G|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.A224G|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.A269G	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	269						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TTTGTGATCAGCTTCCTTCCG	0.557													20	101					0	0	0	0	C	48846087	G	C	48846087	3	2	31	1	0	0	0	0	1	0	0	0	6839	971	34	4	1837	4	GRIPAP1	23	48846087	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	17169898	48846087	106424473	188	6282											
CCNB3	85417	broad.mit.edu	37	chrX	50053263	50053263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggctttggtcttgcaagaGaagactgatgccgaagagga	12	8	15	6	1	1	4	0	1	1	3	1	8	1	5	1	3	2	2	1	3	3	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:50053263G>A	ENST00000376042.1	+	6	2392	c.2094G>A	c.(2092-2094)gaG>gaA	p.E698E	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.E698E			Q8WWL7	CCNB3_HUMAN	cyclin B3	698					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCTTGCAAGAGAAGACTGATG	0.448													10	43					0	0	0	0	A	50053263	G	A	50053263	2	1	31	1	0	0	0	0	0	0	0	1	2943	933	33	2		2	CCNB3	23	50053263	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	1207176	50053263	105217297	189	6283											
ZXDA	7789	broad.mit.edu	37	chrX	57935934	57935934	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggtgaaggtccagccGcagccacccagggggcattt	8	6	16	11	1	0	1	0	1	0	0	1	2	1	1	4	5	2	2	4	5	1	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:57935934G>A	ENST00000358697.4	-	1	1133	c.921C>T	c.(919-921)tgC>tgT	p.C307C		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	307	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AGGTCCAGCCGCAGCCACCCA	0.632													4	22					0	0	0	0	A	57935934	G	A	57935934	2	1	31	1	0	0	0	0	0	0	0	1	18341	1079	38	1		1	ZXDA	23	57935934	Silent	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	7882671	57935934	97334626	190	6284											
MTMR8	55613	broad.mit.edu	37	chrX	63569920	63569920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaggtaacagatttaggaaCcactatttcaggagggtagg	14	9	12	6	0	1	1	1	0	0	1	1	3	1	3	1	5	2	2	1	5	6	6			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:63569920C>A	ENST00000374852.3	-	5	566	c.499G>T	c.(499-501)Gtt>Ttt	p.V167F	MTMR8_ENST00000453546.1_Missense_Mutation_p.V167F	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	167	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GATTTAGGAACCACTATTTCA	0.348													15	88					7.07596e-05	7.47274e-05	1	0	A	63569920	C	A	63569920	3	1	31	1	0	0	0	0	1	0	0	0	10019	507	18	4	1655	4	MTMR8	23	63569920	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	5633986	63569920	91700640	191	6285											
EFNB1	1947	broad.mit.edu	37	chrX	68060232	68060232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcatcatcttcctgaCggtcctactactgaagctac	9	12	6	14	1	4	2	3	2	1	0	6	2	6	2	2	1	4	2	2	1	4	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:68060232C>T	ENST00000204961.4	+	5	1556	c.776C>T	c.(775-777)aCg>aTg	p.T259M		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	259					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	p.T259M(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						ATCTTCCTGACGGTCCTACTA	0.617													6	44					0	0	0	0	T	68060232	C	T	68060232	3	4	31	1	0	0	0	0	1	0	0	0	4991	536	19	1	794	1	EFNB1	23	68060232	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	4490312	68060232	87210328	192	6286											
PJA1	64219	broad.mit.edu	37	chrX	68381791	68381791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccattgctgccagcactggCcccggcgccagccccggcac	5	4	12	20	3	0	0	0	0	0	0	0	0	0	0	7	3	4	3	7	3	0	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:68381791C>T	ENST00000361478.1	-	2	1668	c.1291G>A	c.(1291-1293)Gcc>Acc	p.A431T	PJA1_ENST00000374571.4_Missense_Mutation_p.A376T|PJA1_ENST00000374584.3_Missense_Mutation_p.A243T|PJA1_ENST00000374583.1_Missense_Mutation_p.A431T	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	431							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CCAGCACTGGCCCCGGCGCCA	0.602													33	109					0	0	0	0	T	68381791	C	T	68381791	3	4	31	1	0	0	0	0	1	0	0	0	12033	739	26	4	644	4	PJA1	23	68381791	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	321559	68381791	86888769	193	6287											
NRK	203447	broad.mit.edu	37	chrX	105152868	105152868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcagcagctacagggagCagccagggtattcatgccac	11	7	11	12	0	2	0	2	0	0	0	2	1	2	1	2	2	6	4	2	2	2	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:105152868C>A	ENST00000428173.2	+	13	1541	c.1238C>A	c.(1237-1239)gCa>gAa	p.A413E	NRK_ENST00000243300.9_Missense_Mutation_p.A412E			Q7Z2Y5	NRK_HUMAN	Nik related kinase	412	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTACAGGGAGCAGCCAGGGTA	0.592										HNSCC(51;0.14)			13	74					4.36969e-10	4.91318e-10	1	0	A	105152868	C	A	105152868	3	1	31	1	0	0	0	0	1	0	0	0	10726	710	25	4	1285	4	NRK	23	105152868	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	36771077	105152868	50117692	194	6288											
COL4A6	1288	broad.mit.edu	37	chrX	107403883	107403883	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccttgctgccctggagcTcctgagagagacagatcata	9	8	13	11	0	1	3	1	1	0	3	2	6	2	4	3	2	3	2	3	2	1	2			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:107403883T>G	ENST00000394872.2	-	43	4569	c.4336_splice	c.e43-1	p.G1446_splice	COL4A6_ENST00000545689.1_Splice_Site_p.G1421_splice|COL4A6_ENST00000372216.4_Splice_Site_p.G1446_splice|COL4A6_ENST00000538570.1_Splice_Site_p.G1388_splice|COL4A6_ENST00000334504.7_Splice_Site_p.G1445_splice			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1446	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCCCTGGAGCTCCTGAGAGAG	0.522									Alport syndrome with Diffuse Leiomyomatosis				16	68					0	0	0	0	G	107403883	T	G	107403883	5	3	31	1	0	0	0	0	0	0	1	0	3725	1565	54	5	749	5	COL4A6	23	107403883	Splice_Site	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08	2251015	107403883	47866677	195	6289											
TRPC5	7224	broad.mit.edu	37	chrX	111078162	111078162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactcacggcaataagctgaTaggagttgttcatcatagca	13	11	9	8	1	3	1	3	1	0	0	3	2	3	2	0	2	3	5	0	2	5	6			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:111078162T>C	ENST00000262839.2	-	7	2801	c.1883A>G	c.(1882-1884)tAt>tGt	p.Y628C		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	628					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AATAAGCTGATAGGAGTTGTT	0.438													8	236					0	0	0	0	C	111078162	T	C	111078162	3	2	31	1	0	0	0	0	1	0	0	0	16677	1406	49	5	1058	5	TRPC5	23	111078162	Missense_Mutation	SNP	T	TCGA-BA-A6DF-01A-11D-A30E-08	3674279	111078162	44192398	196	6290											
THOC2	57187	broad.mit.edu	37	chrX	122799667	122799667	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcattaacaggtgagcctttAgcacctttaggaactccaac	12	10	8	11	0	0	1	0	1	0	0	1	2	1	2	3	2	5	2	3	2	5	5			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:122799667A>T	ENST00000245838.8	-	12	1243	c.1212T>A	c.(1210-1212)gcT>gcA	p.A404A	THOC2_ENST00000355725.4_Silent_p.A404A|THOC2_ENST00000491737.1_Silent_p.A289A	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	404					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTGAGCCTTTAGCACCTTTAG	0.308													24	114					0	0	0	0	T	122799667	A	T	122799667	2	4	31	1	0	0	0	0	0	0	0	1	15959	407	15	5		5	THOC2	23	122799667	Silent	SNP	A	TCGA-BA-A6DF-01A-11D-A30E-08	11721505	122799667	32470893	197	6291											
ZNF449	203523	broad.mit.edu	37	chrX	134481370	134481370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcactgatagaagacttacaGagagaacttgagataccaga	17	8	9	7	0	1	7	1	2	0	6	1	9	1	7	1	0	3	0	1	0	5	4			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:134481370G>C	ENST00000339249.4	+	2	467	c.327G>C	c.(325-327)caG>caC	p.Q109H	ZNF449_ENST00000370760.3_Missense_Mutation_p.Q109H|ZNF449_ENST00000370761.3_Missense_Mutation_p.Q109H	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	109	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAGACTTACAGAGAGAACTTG	0.473													9	55					0	0	0	0	C	134481370	G	C	134481370	3	2	31	1	0	0	0	0	1	0	0	0	18015	933	33	2	329	2	ZNF449	23	134481370	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	11681703	134481370	20789190	198	6292											
MTM1	4534	broad.mit.edu	37	chrX	149807467	149807467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaacgtggatggatggacaGtttacaatccagtggaagaa	14	10	12	5	1	0	1	0	0	0	1	1	5	1	5	1	4	2	1	1	4	5	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:149807467G>T	ENST00000370396.2	+	7	550	c.496G>T	c.(496-498)Gtt>Ttt	p.V166F	MTM1_ENST00000413012.2_Missense_Mutation_p.V129F|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Missense_Mutation_p.V71F|MTM1_ENST00000543350.1_Missense_Mutation_p.V51F	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	166	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.V166I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TGGATGGACAGTTTACAATCC	0.363													4	206					0.0215528	0.0217452	1	0	T	149807467	G	T	149807467	3	4	31	1	0	0	0	0	1	0	0	0	10007	1029	36	4	518	4	MTM1	23	149807467	Missense_Mutation	SNP	G	TCGA-BA-A6DF-01A-11D-A30E-08	15326097	149807467	5463093	199	6293											
PLXNA3	55558	broad.mit.edu	37	chrX	153696270	153696270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcgcaagactcaggacgCggaccgtaccctcaagcgtc	11	4	11	15	5	2	1	2	0	0	1	3	3	2	3	2	2	3	2	2	2	4	1			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:153696270C>T	ENST00000369682.3	+	21	3921	c.3746C>T	c.(3745-3747)gCg>gTg	p.A1249V		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1249					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTCAGGACGCGGACCGTACC	0.672													8	75					0	0	0	0	T	153696270	C	T	153696270	3	4	31	1	0	0	0	0	1	0	0	0	12193	768	27	1	3824	1	PLXNA3	23	153696270	Missense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	3888803	153696270	1574290	200	6294											
VAMP7	6845	broad.mit.edu	37	chrX	155169401	155169401	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaccagcagaaatcttgctCgagccatgtgtatgaagaac	13	9	9	10	1	1	3	0	1	1	2	2	4	1	3	2	0	5	3	2	0	5	3			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:155169401C>T	ENST00000286448.6	+	7	703	c.538C>T	c.(538-540)Cga>Tga	p.R180*	VAMP7_ENST00000262640.6_Missense_Mutation_p.S157L|VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_Nonsense_Mutation_p.R139*	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	180	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	p.R180R(1)|p.S157*(1)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAATCTTGCTCGAGCCATGTG	0.378													5	215					0	0	0	0	T	155169401	C	T	155169401	4	4	31	1	0	0	0	0	0	1	0	0	17213	894	31	1	560	1	VAMP7	23	155169401	Nonsense_Mutation	SNP	C	TCGA-BA-A6DF-01A-11D-A30E-08	1473131	155169401	101159	201	6295											
HSPG2	3339	broad.mit.edu	37	chr1	22204945	22204945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgggcctgcacttcccGccgggctggatggggttgcc	3	8	16	14	3	0	1	0	1	0	0	1	2	1	2	4	5	2	3	4	5	0	2	rs144974575		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:22204945G>A	ENST00000374695.3	-	20	2677	c.2598C>T	c.(2596-2598)ggC>ggT	p.G866G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	866	Laminin EGF-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGCACTTCCCGCCGGGCTGGA	0.682													3	19					0	0	0	0	A	22204945	G	A	22204945	2	1	32	1	0	0	0	0	0	0	0	1	7483	1074	38	1		1	HSPG2	1	22204945	Silent	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08		22204945	227045676	1	6296											
CDC42	998	broad.mit.edu	37	chr1	22412991	22412991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaacagatgtatttctaGtctgtttttcagtggtctct	9	17	7	8	0	4	1	1	0	3	1	5	1	4	1	0	1	1	2	0	1	3	5			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:22412991G>T	ENST00000344548.3	+	5	489	c.238G>T	c.(238-240)Gtc>Ttc	p.V80F	CDC42_ENST00000421089.2_Missense_Mutation_p.V122F|CDC42_ENST00000400259.1_Missense_Mutation_p.V80F|CDC42_ENST00000315554.8_Missense_Mutation_p.V80F|CDC42_ENST00000498236.1_3'UTR	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	80					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TGTATTTCTAGTCTGTTTTTC	0.368													12	62					2.31682e-05	2.53134e-05	1	0	T	22412991	G	T	22412991	3	4	32	1	0	0	0	0	1	0	0	0	3100	1029	36	4	248	4	CDC42	1	22412991	Missense_Mutation	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08	208046	22412991	226837630	2	6297											
ALG6	29929	broad.mit.edu	37	chr1	63836691	63836691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtagtggttttaataggaCtaacagtacgatggacagtg	13	11	12	5	1	0	0	0	0	0	0	0	3	0	2	0	3	2	3	0	3	5	6			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:63836691C>A	ENST00000371108.4	+	2	348	c.43C>A	c.(43-45)Cta>Ata	p.L15I	ALG6_ENST00000263440.4_Missense_Mutation_p.L15I	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	15					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTTAATAGGACTAACAGTACG	0.343													5	74					0.000602214	0.000634476	1	0	A	63836691	C	A	63836691	3	1	32	1	0	0	0	0	1	0	0	0	522	564	20	4	45	4	ALG6	1	63836691	Missense_Mutation	SNP	C	TCGA-BA-A6DG-01A-21D-A30E-08	41423700	63836691	185413930	3	6298											
AMY2B	280	broad.mit.edu	37	chr1	104120352	104120352	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtttttaggaacatggttAatttccgcaatgtagtggat	10	16	11	4	1	0	0	0	0	0	0	1	2	1	2	1	3	1	4	1	3	5	6			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:104120352A>C	ENST00000361355.4	+	11	1847	c.1231A>C	c.(1231-1233)Aat>Cat	p.N411H	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	411					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GAACATGGTTAATTTCCGCAA	0.348													22	267					0	0	0	0	C	104120352	A	C	104120352	3	2	32	1	0	0	0	0	1	0	0	0	595	362	13	5	1265	5	AMY2B	1	104120352	Missense_Mutation	SNP	A	TCGA-BA-A6DG-01A-21D-A30E-08	40283661	104120352	145130269	4	6299											
TAF5L	27097	broad.mit.edu	37	chr1	229730404	229730404	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaggcgagagaaagcacGgggccacggtggcctgtgaa	13	3	17	8	3	0	2	0	1	0	1	0	5	0	2	2	5	1	1	2	5	4	0	rs144756502		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:229730404G>A	ENST00000258281.2	-	5	1575	c.1410C>T	c.(1408-1410)ccC>ccT	p.P470P	TAF5L_ENST00000366676.1_Silent_p.P470P	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	470					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GAGAAAGCACGGGGCCACGGT	0.592													4	143					0	0	0	0	A	229730404	G	A	229730404	2	1	32	1	0	0	0	0	0	0	0	1	15620	1103	39	1		1	TAF5L	1	229730404	Silent	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08	125610052	229730404	19520217	5	6300											
C1orf198	84886	broad.mit.edu	37	chr1	230979438	230979438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcccctcccctcgggaccGctcagcattgatcttccaga	7	8	9	17	2	2	2	1	1	1	1	5	3	4	3	6	2	1	2	6	2	0	2			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:230979438G>A	ENST00000366663.5	-	3	729	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000523410.1_Missense_Mutation_p.R67W|C1orf198_ENST00000470540.1_Missense_Mutation_p.R159W	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	197										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCTCGGGACCGCTCAGCATTG	0.637													4	136					0	0	0	0	A	230979438	G	A	230979438	3	1	32	1	0	0	0	0	1	0	0	0	2045	1086	38	1	402	1	C1orf198	1	230979438	Missense_Mutation	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08	1249034	230979438	18271183	6	6301											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48897097	48897097	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagtagtgataatgaagaCcctcaagtaaacattgtaga	18	9	8	6	0	1	4	1	2	0	2	1	4	1	4	1	0	2	3	1	0	8	5			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr2:48897097C>T	ENST00000394754.1	+	9	3441	c.3327C>T	c.(3325-3327)gaC>gaT	p.D1109D	GTF2A1L_ENST00000430487.2_Silent_p.D371D|STON1-GTF2A1L_ENST00000309827.2_Silent_p.D1109D|STON1-GTF2A1L_ENST00000402114.2_Silent_p.D1109D|GTF2A1L_ENST00000403751.3_Silent_p.D405D|STON1-GTF2A1L_ENST00000405008.1_Silent_p.D1109D|STON1-GTF2A1L_ENST00000394751.3_Silent_p.D1062D	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1062					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATAATGAAGACCCTCAAGTAA	0.373													6	57					0	0	0	0	T	48897097	C	T	48897097	2	4	32	1	0	0	0	0	0	0	0	1	15407	506	18	4		4	STON1-GTF2A1L	2	48897097	Silent	SNP	C	TCGA-BA-A6DG-01A-21D-A30E-08		48897097	194302276	7	6302											
USP34	9736	broad.mit.edu	37	chr2	61415540	61415540	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtctttaaattctttacaAtcgtcatatctaccattgtt	11	18	4	8	1	4	0	1	0	3	0	5	0	4	0	1	1	2	1	1	1	6	9			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr2:61415540A>G	ENST00000398571.2	-	80	10414	c.10338T>C	c.(10336-10338)gaT>gaC	p.D3446D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3446					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATTCTTTACAATCGTCATATC	0.408													11	88					0	0	0	0	G	61415540	A	G	61415540	2	3	32	1	0	0	0	0	0	0	0	1	17161	98	4	5		5	USP34	2	61415540	Silent	SNP	A	TCGA-BA-A6DG-01A-21D-A30E-08	12518443	61415540	181783833	8	6303											
GYPC	2995	broad.mit.edu	37	chr2	127453589	127453589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgctgcgctacatgtaccgGcacaagggcacgtaccacac	11	6	10	14	3	0	0	0	0	0	0	0	0	0	0	2	2	5	6	2	2	4	3			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr2:127453589G>A	ENST00000259254.4	+	4	589	c.258G>A	c.(256-258)cgG>cgA	p.R86R	GYPC_ENST00000409836.3_Silent_p.R67R|GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000356887.7_Silent_p.R65R	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	86						cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		ACATGTACCGGCACAAGGGCA	0.597													5	129					0	0	0	0	A	127453589	G	A	127453589	2	1	32	1	0	0	0	0	0	0	0	1	6960	1190	42	4		4	GYPC	2	127453589	Silent	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08	66038049	127453589	115745784	9	6304											
GPR39	2863	broad.mit.edu	37	chr2	133402927	133402927	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgcagcacgccaaccaCgagaagcgcctgcgcgtaca	10	4	11	16	6	0	1	0	0	0	1	1	2	0	1	3	0	6	4	3	0	3	1			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr2:133402927C>T	ENST00000329321.3	+	2	1579	c.1110C>T	c.(1108-1110)caC>caT	p.H370H	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	370						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACGCCAACCACGAGAAGCGCC	0.667													9	65					0	0	0	0	T	133402927	C	T	133402927	2	4	32	1	0	0	0	0	0	0	0	1	6742	535	19	1		1	GPR39	2	133402927	Silent	SNP	C	TCGA-BA-A6DG-01A-21D-A30E-08	5949338	133402927	109796446	10	6305											
BRPF1	7862	broad.mit.edu	37	chr3	9775848	9775848	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggtggactttgatgtgaaGactttctgccacaacttgcg	8	12	13	8	1	1	3	0	2	1	1	1	4	1	4	1	3	3	0	1	3	2	3			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr3:9775848G>A	ENST00000383829.2	+	2	428	c.24G>A	c.(22-24)aaG>aaA	p.K8K	BRPF1_ENST00000457855.1_Silent_p.K8K|BRPF1_ENST00000424362.1_Silent_p.K8K|BRPF1_ENST00000302054.3_Silent_p.K8K|BRPF1_ENST00000433861.2_Silent_p.K8K	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	8					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TTGATGTGAAGACTTTCTGCC	0.517													4	71					0	0	0	0	A	9775848	G	A	9775848	2	1	32	1	0	0	0	0	0	0	0	1	1528	933	33	2		2	BRPF1	3	9775848	Silent	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08		9775848	188246582	11	6306											
SEC22C	9117	broad.mit.edu	37	chr3	42594851	42594851	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagaggttcctcagcccGtgcaggtacatgttgcccag	7	9	12	13	1	1	1	1	0	0	1	2	1	2	1	4	2	5	4	4	2	1	3			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr3:42594851G>A	ENST00000264454.3	-	7	944	c.801C>T	c.(799-801)caC>caT	p.H267H	SEC22C_ENST00000423701.2_Intron|SEC22C_ENST00000417572.1_Intron|SEC22C_ENST00000273156.7_Intron|SEC22C_ENST00000536332.1_Intron			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	267					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TCCTCAGCCCGTGCAGGTACA	0.463													4	65					0	0	0	0	A	42594851	G	A	42594851	2	1	32	1	0	0	0	0	0	0	0	1	14077	1136	40	1		1	SEC22C	3	42594851	Silent	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08	32819003	42594851	155427579	12	6307											
BBX	56987	broad.mit.edu	37	chr3	107497354	107497354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtgtcctcagaaccgactAaaaccagcaaaggttaggtg	14	8	10	9	1	1	1	1	0	0	1	2	2	2	1	3	2	3	2	3	2	5	2			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr3:107497354A>G	ENST00000415149.2	+	13	2518	c.2191A>G	c.(2191-2193)Aaa>Gaa	p.K731E	BBX_ENST00000325805.8_Missense_Mutation_p.K731E|BBX_ENST00000402543.1_Missense_Mutation_p.K731E|BBX_ENST00000406780.1_Missense_Mutation_p.K731E|BBX_ENST00000416476.2_Silent_p.L394L|BBX_ENST00000473542.1_3'UTR	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	731	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGAACCGACTAAAACCAGCAA	0.448													6	80					0	0	0	0	G	107497354	A	G	107497354	3	3	32	1	0	0	0	0	1	0	0	0	1347	363	13	5	2229	5	BBX	3	107497354	Missense_Mutation	SNP	A	TCGA-BA-A6DG-01A-21D-A30E-08	64902503	107497354	90525076	13	6308											
PIK3R4	30849	broad.mit.edu	37	chr3	130405201	130405201	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtggcataggcaagaacaGactgtgctccagagttgaag	13	7	13	8	0	0	4	0	1	0	3	1	4	1	4	1	2	2	4	1	2	4	2			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr3:130405201G>C	ENST00000356763.3	-	15	3886	c.3329C>G	c.(3328-3330)tCt>tGt	p.S1110C	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1110					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						GGCAAGAACAGACTGTGCTCC	0.468													5	73					0	0	0	0	C	130405201	G	C	130405201	3	2	32	1	0	0	0	0	1	0	0	0	11993	942	33	2	771	2	PIK3R4	3	130405201	Missense_Mutation	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08	22907847	130405201	67617229	14	6309											
TF	7018	broad.mit.edu	37	chr3	133472485	133472485	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcaggtttggtgtatgAtgcttacctggctcccaata	8	13	12	8	0	0	1	0	1	0	0	1	2	1	2	2	4	3	5	2	4	4	4			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr3:133472485A>C	ENST00000402696.3	+	3	748	c.263A>C	c.(262-264)gAt>gCt	p.D88A	TFP1_ENST00000460564.1_RNA|TF_ENST00000264998.3_5'UTR|TF_ENST00000475382.1_3'UTR	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	88	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TTGGTGTATGATGCTTACCTG	0.527													6	92					0	0	0	0	C	133472485	A	C	133472485	3	2	32	1	0	0	0	0	1	0	0	0	15879	333	12	5	273	5	TF	3	133472485	Missense_Mutation	SNP	A	TCGA-BA-A6DG-01A-21D-A30E-08	3067284	133472485	64549945	15	6310											
ABLIM2	84448	broad.mit.edu	37	chr4	8098826	8098826	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgcccacttactcacCggcagacggcacacacgaag	11	4	10	16	3	1	1	1	0	0	1	1	2	1	1	3	3	2	2	3	3	2	1			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr4:8098826C>T	ENST00000296372.8	-	3	480	c.338_splice	c.e3+1	p.R113_splice	ABLIM2_ENST00000361737.5_Splice_Site_p.R113_splice|ABLIM2_ENST00000545242.1_Splice_Site_p.R113_splice|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000341937.5_Splice_Site_p.R113_splice|ABLIM2_ENST00000546334.1_Splice_Site_p.R113_splice|ABLIM2_ENST00000428004.2_Splice_Site_p.R113_splice|ABLIM2_ENST00000447017.2_Splice_Site_p.R113_splice|ABLIM2_ENST00000361581.5_Splice_Site_p.R113_splice|ABLIM2_ENST00000407564.3_Splice_Site_p.R113_splice|ABLIM2_ENST00000505872.1_Splice_Site_p.R113_splice			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	113	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						ACTTACTCACCGGCAGACGGC	0.642													3	25					0	0	0	0	T	8098826	C	T	8098826	5	4	32	1	0	0	0	0	0	0	1	0	95	666	23	1	1729	1	ABLIM2	4	8098826	Splice_Site	SNP	C	TCGA-BA-A6DG-01A-21D-A30E-08		8098826	183055450	16	6311											
NFXL1	152518	broad.mit.edu	37	chr4	47853953	47853953	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgtactttgttgcactGcaattcctacaaacaacccg	11	12	5	13	2	1	0	1	0	0	0	2	0	2	0	2	0	6	4	2	0	5	6			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr4:47853953G>A	ENST00000507489.1	-	21	2604	c.2428C>T	c.(2428-2430)Cag>Tag	p.Q810*	NFXL1_ENST00000381538.3_Nonsense_Mutation_p.Q810*	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	810						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TTGTTGCACTGCAATTCCTAC	0.363													5	76					0	0	0	0	A	47853953	G	A	47853953	4	1	32	1	0	0	0	0	0	1	0	0	10458	1328	46	4	319	4	NFXL1	4	47853953	Nonsense_Mutation	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08	39755127	47853953	143300323	17	6312											
SLC7A11	23657	broad.mit.edu	37	chr4	139135747	139135747	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggctacttacttttcaggGttttctacttcttcagtaac	7	18	6	10	0	4	0	2	0	2	0	4	0	4	0	0	2	4	3	0	2	4	10			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr4:139135747G>C	ENST00000280612.5	-	6	1062	c.783C>G	c.(781-783)aaC>aaG	p.N261K		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	261					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ACTTTTCAGGGTTTTCTACTT	0.259													5	60					0	0	0	0	C	139135747	G	C	139135747	3	2	32	1	0	0	0	0	1	0	0	0	14782	1252	44	4	750	4	SLC7A11	4	139135747	Missense_Mutation	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08	91281794	139135747	52018529	18	6313											
DNAH5	1767	broad.mit.edu	37	chr5	13914004	13914004	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacatctcgctaaaatcaaAttgttttgcatttggatttt	12	18	5	6	1	2	0	1	0	1	0	3	1	2	1	0	1	2	3	0	1	4	8			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr5:13914004A>G	ENST00000265104.4	-	11	1488	c.1384T>C	c.(1384-1386)Ttt>Ctt	p.F462L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	462	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTAAAATCAAATTGTTTTGCA	0.328									Kartagener syndrome				8	29					0	0	0	0	G	13914004	A	G	13914004	3	3	32	1	0	0	0	0	1	0	0	0	4641	101	4	5	12766	5	DNAH5	5	13914004	Missense_Mutation	SNP	A	TCGA-BA-A6DG-01A-21D-A30E-08		13914004	167001256	19	6314											
VCAN	1462	broad.mit.edu	37	chr5	82815556	82815556	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggattcatgggatggtgtCgtggaagataaacaaacaca	15	8	12	6	2	1	1	1	0	0	1	2	4	1	4	0	4	2	0	0	4	4	2			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr5:82815556C>A	ENST00000265077.3	+	7	1996	c.1431C>A	c.(1429-1431)gtC>gtA	p.V477V	VCAN_ENST00000342785.4_Silent_p.V477V|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Silent_p.V429V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	477	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGGATGGTGTCGTGGAAGATA	0.413													5	116					0.217242	0.220988	1	0	A	82815556	C	A	82815556	2	1	32	1	0	0	0	0	0	0	0	1	17234	871	31	3		3	VCAN	5	82815556	Silent	SNP	C	TCGA-BA-A6DG-01A-21D-A30E-08	68901552	82815556	98099704	20	6315											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712689	140712689	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtaaacttttgtgatgAatgtatcagctatctagaga	13	14	9	5	0	3	3	2	2	1	1	3	4	3	3	0	1	2	3	0	1	6	6			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr5:140712689A>C	ENST00000378105.3	+	1	2438	c.2438A>C	c.(2437-2439)gAa>gCa	p.E813A	PCDHGA1_ENST00000517417.1_Intron	NM_031993.1	NP_114382.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGTGATGAATGTATCAGC	0.368													6	51					0	0	0	0	C	140712689	A	C	140712689	3	2	32	1	0	0	0	0	1	0	0	0	11621	246	9	5	2440	5	PCDHGA1	5	140712689	Missense_Mutation	SNP	A	TCGA-BA-A6DG-01A-21D-A30E-08	57897133	140712689	40202571	21	6316											
ZMIZ2	83637	broad.mit.edu	37	chr7	44802519	44802519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctagtgcaccgcccatccGtccgctcggtgctgcagggc	5	7	13	16	4	0	0	0	0	0	0	3	0	2	0	4	2	4	5	4	2	1	1			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr7:44802519G>A	ENST00000309315.4	+	12	1759	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.V546I|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.V520I|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.V488I|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.V514I	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	546					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCGCCCATCCGTCCGCTCGGT	0.647													6	369					0	0	0	0	A	44802519	G	A	44802519	3	1	32	1	0	0	0	0	1	0	0	0	17792	1145	40	1	1678	1	ZMIZ2	7	44802519	Missense_Mutation	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08		44802519	114336144	22	6317											
GRM8	2918	broad.mit.edu	37	chr7	126173527	126173527	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgctgcaatcattaaaaAcgtgattgaataacagagaa	17	10	9	5	1	1	3	1	2	0	1	1	4	1	3	0	1	4	2	0	1	7	3			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr7:126173527A>T	ENST00000339582.2	-	9	2717	c.1909T>A	c.(1909-1911)Ttt>Att	p.F637I	GRM8_ENST00000444921.2_Missense_Mutation_p.F637I|GRM8_ENST00000358373.3_Missense_Mutation_p.F637I|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	637					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATCATTAAAAACGTGATTGAA	0.463										HNSCC(24;0.065)			6	65					0	0	0	0	T	126173527	A	T	126173527	3	4	32	1	0	0	0	0	1	0	0	0	6853	43	2	5	879	5	GRM8	7	126173527	Missense_Mutation	SNP	A	TCGA-BA-A6DG-01A-21D-A30E-08	81371008	126173527	32965136	23	6318											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	8	6	10	17	3	2	1	2	1	0	0	4	1	3	1	3	1	4	4	3	1	0	0	rs121913387		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	19					0	0	0	0	A	21971186	G	A	21971186	4	1	32	1	0	0	0	0	0	1	0	0	3190	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08		21971186	119242245	24	6319											
POLR1E	64425	broad.mit.edu	37	chr9	37486094	37486094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggcagtattgtggggcgcCcgacgggagccagagagctg	7	6	19	9	3	0	1	0	0	0	1	0	4	0	2	2	4	2	3	2	4	1	2			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr9:37486094C>T	ENST00000377798.4	+	1	163	c.50C>T	c.(49-51)cCc>cTc	p.P17L	POLR1E_ENST00000442009.2_5'UTR	NM_022490.1	NP_071935.1	Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	84					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TGTGGGGCGCCCGACGGGAGC	0.622													3	10					0	0	0	0	T	37486094	C	T	37486094	3	4	32	1	0	0	0	0	1	0	0	0	12285	623	22	4	52	4	POLR1E	9	37486094	Missense_Mutation	SNP	C	TCGA-BA-A6DG-01A-21D-A30E-08	15514908	37486094	103727337	25	6320											
OR1J4	26219	broad.mit.edu	37	chr9	125281470	125281470	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagttcctcctcctggacctCcccatctggccagagcagca	7	8	9	17	0	1	1	0	0	1	1	5	3	5	2	7	2	2	3	7	2	0	1			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr9:125281470C>T	ENST00000340750.1	+	1	51	c.51C>T	c.(49-51)ctC>ctT	p.L17L		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TCCTGGACCTCCCCATCTGGC	0.542													11	120					0	0	0	0	T	125281470	C	T	125281470	2	4	32	1	0	0	0	0	0	0	0	1	11032	842	30	2		2	OR1J4	9	125281470	Silent	SNP	C	TCGA-BA-A6DG-01A-21D-A30E-08	87795376	125281470	15931961	26	6321											
PNPLA7	375775	broad.mit.edu	37	chr9	140442090	140442090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccccaagagtgcagggCggtgcccaggcagaagtcag	10	4	15	12	1	1	2	1	0	0	2	2	2	2	2	3	3	2	2	3	3	2	0			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr9:140442090C>T	ENST00000406427.1	-	2	388	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	PNPLA7_ENST00000277531.4_Intron	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	10					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GAGTGCAGGGCGGTGCCCAGG	0.627													9	113					0	0	0	0	T	140442090	C	T	140442090	3	4	32	1	0	0	0	0	1	0	0	0	12242	768	27	1	4112	1	PNPLA7	9	140442090	Missense_Mutation	SNP	C	TCGA-BA-A6DG-01A-21D-A30E-08	15160620	140442090	771341	27	6322											
CUBN	8029	broad.mit.edu	37	chr10	16979755	16979755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtaagctccaattaggCgggcgtgaatgctaggccca	11	7	12	11	2	0	1	0	1	0	0	1	1	1	1	2	3	2	3	2	3	5	3			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr10:16979755C>A	ENST00000377833.4	-	39	5827	c.5762G>T	c.(5761-5763)cGc>cTc	p.R1921L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1921	CUB 13.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.R1921L(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCAATTAGGCGGGCGTGAAT	0.358													4	42					0.014758	0.0152758	1	0	A	16979755	C	A	16979755	3	1	32	1	0	0	0	0	1	0	0	0	4083	768	27	3	5225	3	CUBN	10	16979755	Missense_Mutation	SNP	C	TCGA-BA-A6DG-01A-21D-A30E-08		16979755	118554992	28	6323											
MPP7	143098	broad.mit.edu	37	chr10	28378644	28378644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcattagtttgtcgccgaTacggtgtcacttcttcgtat	6	18	8	9	4	3	0	2	0	1	0	5	1	3	0	1	1	1	2	1	1	3	7			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr10:28378644T>C	ENST00000337532.5	-	13	1355	c.1079A>G	c.(1078-1080)tAt>tGt	p.Y360C	MPP7_ENST00000540098.1_Missense_Mutation_p.Y360C|MPP7_ENST00000375732.1_Missense_Mutation_p.Y360C|MPP7_ENST00000375719.3_Missense_Mutation_p.Y360C|MPP7_ENST00000445954.2_Missense_Mutation_p.Y235C	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	360					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTGTCGCCGATACGGTGTCAC	0.383													15	140					0	0	0	0	C	28378644	T	C	28378644	3	2	32	1	0	0	0	0	1	0	0	0	9809	1406	49	5	675	5	MPP7	10	28378644	Missense_Mutation	SNP	T	TCGA-BA-A6DG-01A-21D-A30E-08	11398889	28378644	107156103	29	6324											
INCENP	3619	broad.mit.edu	37	chr11	61919392	61919392	+	Frame_Shift_Del	DEL	C	C	-																															ctgctgtctggaactcaccgCccctgcagggcgccagggtc																										TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr11:61919392delC	ENST00000394818.3	+	19	2903	c.2701delC	c.(2701-2703)ccfs	p.P901fs	INCENP_ENST00000278849.4_Frame_Shift_Del_p.P897fs	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	901					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAACTCACCGCCCCTGCAGGG	0.612													12	51	---	---	---	---					-	61919392	C	-	61919392	7	5	32	1	0	1	0	1	0	0	0	0	7786	739	26	0	2771	0	INCENP	11	61919392	Frame_Shift_Del	DEL	C	TCGA-BA-A6DG-01A-21D-A30E-08		61919392	73087124	30	6325											
AVPR1A	552	broad.mit.edu	37	chr12	63543951	63543951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggcgccacaaagatgccGcccgtcatccaggtcacgta	10	5	11	15	5	2	1	2	0	0	1	3	1	3	1	4	2	1	1	4	2	2	1			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr12:63543951G>A	ENST00000299178.2	-	1	771	c.666C>T	c.(664-666)ggC>ggT	p.G222G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	222					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CAAAGATGCCGCCCGTCATCC	0.612													12	130					0	0	0	0	A	63543951	G	A	63543951	2	1	32	1	0	0	0	0	0	0	0	1	1235	1074	38	1		1	AVPR1A	12	63543951	Silent	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08		63543951	70307944	31	6326											
KIAA0586	9786	broad.mit.edu	37	chr14	59014653	59014653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagataccttctgaacGggaagagacagccagcacag	13	4	14	10	1	1	3	0	1	1	2	1	5	1	4	2	3	4	2	2	3	3	2			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr14:59014653G>T	ENST00000354386.6	+	34	5138	c.4894G>T	c.(4894-4896)Ggg>Tgg	p.G1632W	KIAA0586_ENST00000556134.1_3'UTR|KIAA0586_ENST00000261244.5_3'UTR|KIAA0586_ENST00000423743.3_3'UTR	NM_001244189.1	NP_001231118.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	0										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTTCTGAACGGGAAGAGACA	0.483													5	63					8.12818e-05	8.71932e-05	1	0	T	59014653	G	T	59014653	3	4	32	1	0	0	0	0	1	0	0	0	8237	1131	39	3		3	KIAA0586	14	59014653	Missense_Mutation	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08		59014653	48334887	32	6327											
NRXN3	9369	broad.mit.edu	37	chr14	80328223	80328223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaactccgcccagagcaaCggcacgctcatgaaggagaa	14	3	11	13	3	1	3	1	1	0	2	2	4	2	3	2	2	4	4	2	2	4	0	rs138628835		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr14:80328223C>T	ENST00000281127.7	+	6	2094	c.1215C>T	c.(1213-1215)aaC>aaT	p.N405N	NRXN3_ENST00000554719.1_Silent_p.N1034N|NRXN3_ENST00000335750.5_Silent_p.N1034N|NRXN3_ENST00000557594.1_Silent_p.N610N|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Silent_p.N432N	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	610					angiogenesis|cell adhesion	integral to membrane		p.N432N(1)|p.N1034N(1)		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)		CCCAGAGCAACGGCACGCTCA	0.527													7	40					0	0	0	0	T	80328223	C	T	80328223	2	4	32	1	0	0	0	0	0	0	0	1	10738	535	19	1		1	NRXN3	14	80328223	Silent	SNP	C	TCGA-BA-A6DG-01A-21D-A30E-08	21313570	80328223	27021317	33	6328											
APBA2	321	broad.mit.edu	37	chr15	29346497	29346497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgatgagtgccaggaggCggtggaggagtggacggact	9	6	19	7	2	0	2	0	2	0	0	0	7	0	7	1	7	1	0	1	7	0	0	rs143649138	byFrequency	TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr15:29346497C>T	ENST00000558402.1	+	5	1009	c.410C>T	c.(409-411)gCg>gTg	p.A137V	APBA2_ENST00000411764.1_Missense_Mutation_p.A137V|APBA2_ENST00000561069.1_Missense_Mutation_p.A137V|APBA2_ENST00000558330.1_Missense_Mutation_p.A137V|APBA2_ENST00000558259.1_Missense_Mutation_p.A137V			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	137					nervous system development|protein transport		protein binding	p.A137V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGCCAGGAGGCGGTGGAGGAG	0.662													6	73					0	0	0	0	T	29346497	C	T	29346497	3	4	32	1	0	0	0	0	1	0	0	0	758	768	27	1	412	1	APBA2	15	29346497	Missense_Mutation	SNP	C	TCGA-BA-A6DG-01A-21D-A30E-08		29346497	73184895	34	6329											
DTWD1	56986	broad.mit.edu	37	chr15	49926891	49926891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaagagttctgtgatttGaatgacagcaagtgcaaagg	15	9	12	5	0	1	4	0	3	1	1	1	5	1	4	0	1	3	3	0	1	5	2			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr15:49926891G>T	ENST00000251250.6	+	5	774	c.567G>T	c.(565-567)ttG>ttT	p.L189F	DTWD1_ENST00000403028.3_Missense_Mutation_p.L189F|DTWD1_ENST00000558653.1_Missense_Mutation_p.L189F|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000415425.1_Missense_Mutation_p.L102F	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	189										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		TCTGTGATTTGAATGACAGCA	0.348													11	77					1.58986e-06	1.76985e-06	1	0	T	49926891	G	T	49926891	3	4	32	1	0	0	0	0	1	0	0	0	4827	1281	45	2	577	2	DTWD1	15	49926891	Missense_Mutation	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08	20580394	49926891	52604501	35	6330											
MEGF11	84465	broad.mit.edu	37	chr15	66220800	66220800	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagtggcctgtgacGgggtcacatccatcagcatg	9	7	13	12	1	2	1	2	1	0	0	3	1	3	1	2	3	3	3	2	3	0	0			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr15:66220800G>A	ENST00000409699.2	-	13	1810	c.1638C>T	c.(1636-1638)ccC>ccT	p.P546P	MEGF11_ENST00000360698.4_Silent_p.P546P|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000288745.3_Silent_p.P471P|MEGF11_ENST00000395625.2_Silent_p.P471P|MEGF11_ENST00000422354.1_Silent_p.P546P			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	546						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GGCCTGTGACGGGGTCACATC	0.542													7	64					0	0	0	0	A	66220800	G	A	66220800	2	1	32	1	0	0	0	0	0	0	0	1	9530	1103	39	1		1	MEGF11	15	66220800	Silent	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08	16293909	66220800	36310592	36	6331											
EDC4	23644	broad.mit.edu	37	chr16	67913012	67913012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactgaggtgctgcctgcCgaagaggaaaatgacagcct	12	6	12	11	1	0	3	0	2	0	1	0	5	0	4	3	2	4	1	3	2	3	0	rs146270915		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr16:67913012C>T	ENST00000358933.5	+	12	1679	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	480					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGCTGCCTGCCGAAGAGGAAA	0.592													3	50					0	0	0	0	T	67913012	C	T	67913012	2	4	32	1	0	0	0	0	0	0	0	1	4944	639	23	1		1	EDC4	16	67913012	Silent	SNP	C	TCGA-BA-A6DG-01A-21D-A30E-08		67913012	22441741	37	6332											
PRPF8	10594	broad.mit.edu	37	chr17	1563822	1563822	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcgtggggatcttgccGtgcatgaagatacccgtcag	8	10	13	10	3	3	2	2	1	1	1	3	3	3	3	2	2	4	1	2	2	2	3	rs148287873	byFrequency	TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr17:1563822G>A	ENST00000572621.1	-	29	4954	c.4689C>T	c.(4687-4689)caC>caT	p.H1563H	PRPF8_ENST00000304992.6_Silent_p.H1563H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1563						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGATCTTGCCGTGCATGAAGA	0.498													6	291					0	0	0	0	A	1563822	G	A	1563822	2	1	32	1	0	0	0	0	0	0	0	1	12655	1136	40	1		1	PRPF8	17	1563822	Silent	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08		1563822	79631388	38	6333											
TP53	7157	broad.mit.edu	37	chr17	7577100	7577100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctgtgcgccggtctcTcccaggacaggcacaaacac	8	8	9	16	2	2	0	0	0	2	0	5	1	4	1	3	3	2	1	3	3	1	1			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr17:7577100T>C	ENST00000420246.2	-	8	970	c.838A>G	c.(838-840)Aga>Gga	p.R280G	TP53_ENST00000445888.2_Missense_Mutation_p.R280G|TP53_ENST00000359597.4_Missense_Mutation_p.R280G|TP53_ENST00000455263.2_Missense_Mutation_p.R280G|TP53_ENST00000269305.4_Missense_Mutation_p.R280G|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280G(20)|p.0?(8)|p.R280*(8)|p.?(2)|p.G279fs*65(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*65(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCCGGTCTCTCCCAGGACAG	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	45					0	0	0	0	C	7577100	T	C	7577100	3	2	32	1	0	0	0	0	1	0	0	0	16476	1559	54	5	448	5	TP53	17	7577100	Missense_Mutation	SNP	T	TCGA-BA-A6DG-01A-21D-A30E-08	6013278	7577100	73618110	39	6334											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	45					0	0	0	0	A	7578263	G	A	7578263	4	1	32	1	0	0	0	0	0	1	0	0	16476	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08	1163	7578263	73616947	40	6335											
PTRF	284119	broad.mit.edu	37	chr17	40557364	40557364	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcctccgactctttcaGcgatttgctgatgctcagtt	6	13	9	13	3	3	1	2	1	1	0	4	3	4	1	2	0	4	3	2	0	0	3			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr17:40557364G>A	ENST00000357037.5	-	2	933	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	172					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GACTCTTTCAGCGATTTGCTG	0.647													21	188					0	0	0	0	A	40557364	G	A	40557364	2	1	32	1	0	0	0	0	0	0	0	1	12897	962	34	4		4	PTRF	17	40557364	Silent	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08	32979101	40557364	40637846	41	6336											
VAV1	7409	broad.mit.edu	37	chr19	6826656	6826656	+	Frame_Shift_Del	DEL	G	G	-																															ggccgctactgcagccaggtGgagtcagccagcaaacacct																										TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr19:6826656delG	ENST00000304076.2	+	9	955	c.861delG	c.(859-861)gtfs	p.V287fs	VAV1_ENST00000602142.1_Frame_Shift_Del_p.V287fs|VAV1_ENST00000599806.1_Frame_Shift_Del_p.V232fs|VAV1_ENST00000596764.1_Frame_Shift_Del_p.V255fs|VAV1_ENST00000539284.1_Frame_Shift_Del_p.V190fs	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	287	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCAGCCAGGTGGAGTCAGCCA	0.652													2	4	---	---	---	---					-	6826656	G	-	6826656	7	5	32	1	0	1	0	1	0	0	0	0	17227	1335	47	0	895	0	VAV1	19	6826656	Frame_Shift_Del	DEL	G	TCGA-BA-A6DG-01A-21D-A30E-08		6826656	52302327	42	6337											
NANOS2	339345	broad.mit.edu	37	chr19	46417876	46417876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctccagcctttgaccccGacttgcgatcagcgcccaca	7	8	9	17	3	2	1	1	1	1	0	3	3	2	1	5	1	3	0	5	1	0	2			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr19:46417876G>A	ENST00000341294.2	-	1	160	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	26					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		CTTTGACCCCGACTTGCGATC	0.662													7	51					0	0	0	0	A	46417876	G	A	46417876	3	1	32	1	0	0	0	0	1	0	0	0	10222	1057	37	1	344	1	NANOS2	19	46417876	Missense_Mutation	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08	39591220	46417876	12711107	43	6338											
BAGE2	85319	broad.mit.edu	37	chr21	11085835	11085837	+	RNA	DEL	CAT	CAT	-																															atcaccaccaccaccatcacCatcaccaccaccaccaccat																								rs151194290	by1000genomes	TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr21:11085835_11085837delCAT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccatcaccatcaccaccacc	0.586													2	4	---	---	---	---					-	11085837	CAT	-	11085835	6	5	32	0	1	1	0	1	0	0	0	0	1296	609	21	0		0	BAGE2	21	11085835	RNA	DEL	CAT	TCGA-BA-A6DG-01A-21D-A30E-08		11085835	37044060	44	6339											
TTLL12	23170	broad.mit.edu	37	chr22	43576832	43576832	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtactgggcagctcaccGtggaactcaatgcccatcag	9	9	10	13	1	4	0	3	0	1	0	4	1	4	1	2	2	4	3	2	2	3	1	rs142812212	by1000genomes	TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr22:43576832G>A	ENST00000216129.6	-	3	525	c.462C>T	c.(460-462)caC>caT	p.H154H		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	154					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GCAGCTCACCGTGGAACTCAA	0.652													4	139					0	0	0	0	A	43576832	G	A	43576832	2	1	32	1	0	0	0	0	0	0	0	1	16821	1136	40	1		1	TTLL12	22	43576832	Silent	SNP	G	TCGA-BA-A6DG-01A-21D-A30E-08		43576832	7727734	45	6340											
C1orf86	199990	broad.mit.edu	37	chr1	2125497	2125497	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcagctccgggctcacCgtgcgcagtagctcggccca	7	6	13	15	4	2	0	2	0	0	0	4	1	3	1	3	3	3	5	3	3	1	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:2125497C>A	ENST00000378545.3	-	3	446	c.447G>T	c.(445-447)acG>acT	p.T149T	C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000378546.4_Silent_p.T46T			Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86	46										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCGGGCTCACCGTGCGCAGTA	0.667													14	98					3.27435e-08	3.58409e-08	1	0	A	2125497	C	A	2125497	2	1	33	1	0	0	0	0	0	0	0	1	2083	639	23	3		3	C1orf86	1	2125497	Silent	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08		2125497	247125124	1	6341											
CLCNKB	1188	broad.mit.edu	37	chr1	16378296	16378296	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccaatcccatcatgccAggggggtatgctctggcagg	9	8	12	12	0	3	0	2	0	1	0	4	0	4	0	3	5	2	3	3	5	2	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622													4	137					0	0	0	0	C	16378296	A	C	16378296	2	2	33	1	0	0	0	0	0	0	0	1	3500	175	7	5		5	CLCNKB	1	16378296	Silent	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	14252799	16378296	232872325	2	6342											
ZNF683	257101	broad.mit.edu	37	chr1	26688211	26688211	+	Frame_Shift_Del	DEL	C	C	-																															aggctcactgctcttgctttCccctgggatgtcgaggacac																								rs142594969		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:26688211delC	ENST00000436292.1	-	7	1626	c.1506delG	c.(1504-1506)ggfs	p.G502fs	ZNF683_ENST00000374204.1_Frame_Shift_Del_p.G482fs|ZNF683_ENST00000403843.1_Frame_Shift_Del_p.G502fs|ZNF683_ENST00000349618.3_Frame_Shift_Del_p.G482fs			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CTCTTGCTTTCCCCTGGGATG	0.527													79	171	---	---	---	---					-	26688211	C	-	26688211	7	5	33	1	0	1	0	1	0	0	0	0	18185	842	30	0	72	0	ZNF683	1	26688211	Frame_Shift_Del	DEL	C	TCGA-BA-A6DI-01A-11D-A30E-08	10309915	26688211	222562410	3	6343											
FGGY	55277	broad.mit.edu	37	chr1	60103901	60103901	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcacttctcttccagaTgccagagtatatatgcatat	13	14	5	9	0	2	2	1	0	1	2	4	2	3	2	2	0	2	2	2	0	5	7			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:60103901T>A	ENST00000371218.4	+	11	1259	c.1073_splice	c.e11-1	p.C359_splice	FGGY_ENST00000371212.1_Splice_Site_p.C271_splice|FGGY_ENST00000303721.7_Splice_Site_p.C359_splice|FGGY_ENST00000371210.1_Splice_Site_p.C60_splice|FGGY_ENST00000474476.1_Intron	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	359					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CTCTTCCAGATGCCAGAGTAT	0.393													36	91					0	0	0	0	A	60103901	T	A	60103901	5	1	33	1	0	0	0	0	0	0	1	0	5916	1478	51	5	1113	5	FGGY	1	60103901	Splice_Site	SNP	T	TCGA-BA-A6DI-01A-11D-A30E-08	33415690	60103901	189146720	4	6344											
DRAM2	128338	broad.mit.edu	37	chr1	111661446	111661446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaaatcacgaatgtaaGtcaggaaaaaaccaaagaag	21	5	8	7	1	2	2	2	1	0	1	2	4	2	3	2	1	1	1	2	1	9	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:111661446G>A	ENST00000286692.4	-	8	1291	c.674C>T	c.(673-675)aCt>aTt	p.T225I	DRAM2_ENST00000539140.1_Missense_Mutation_p.T225I|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	225					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						ACGAATGTAAGTCAGGAAAAA	0.373													6	18					0	0	0	0	A	111661446	G	A	111661446	3	1	33	1	0	0	0	0	1	0	0	0	4790	1029	36	4	134	4	DRAM2	1	111661446	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	51557545	111661446	137589175	5	6345											
ATP8B2	57198	broad.mit.edu	37	chr1	154320941	154320941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaccattgtgctcaccaCagtcgtctgcatcatgcccg	7	10	9	15	2	3	1	2	1	1	0	4	1	3	1	3	0	3	3	3	0	0	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:154320941C>T	ENST00000368489.3	+	27	3320	c.3320C>T	c.(3319-3321)aCa>aTa	p.T1107I		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1093					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGCTCACCACAGTCGTCTGC	0.607													10	37					0	0	0	0	T	154320941	C	T	154320941	3	4	33	1	0	0	0	0	1	0	0	0	1199	478	17	4	3556	4	ATP8B2	1	154320941	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	42659495	154320941	94929680	6	6346											
RXFP4	339403	broad.mit.edu	37	chr1	155912004	155912004	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctggcagtgtgggcggcGgctgccctggtgacggtgcc	3	7	18	13	3	0	1	0	1	0	0	0	1	0	1	3	6	2	2	3	6	0	0	rs151259651		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:155912004G>A	ENST00000368318.3	+	1	525	c.504G>A	c.(502-504)gcG>gcA	p.A168A		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	168						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTGGGCGGCGGCTGCCCTGG	0.672													19	100					0	0	0	0	A	155912004	G	A	155912004	2	1	33	1	0	0	0	0	0	0	0	1	13847	1103	39	1		1	RXFP4	1	155912004	Silent	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	1591063	155912004	93338617	7	6347											
OR6N2	81442	broad.mit.edu	37	chr1	158747425	158747425	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatggttgtattgatccaTgggaggctgaggtaaagaag	12	11	15	3	0	0	4	0	3	0	1	1	5	1	5	1	4	0	4	1	4	5	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:158747425T>G	ENST00000339258.1	-	1	0	c.0_splice	c.e1-1	p.M1_splice		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TATTGATCCATGGGAGGCTGA	0.438													15	63					0	0	0	0	G	158747425	T	G	158747425	5	3	33	1	0	0	0	0	0	0	1	0	11278	1478	51	5	955	5	OR6N2	1	158747425	Splice_Site	SNP	T	TCGA-BA-A6DI-01A-11D-A30E-08	2835421	158747425	90503196	8	6348											
OLFML2B	25903	broad.mit.edu	37	chr1	161993074	161993074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacgttctcctggttgtcCgcctcgttttgcagagtctc	6	14	9	12	3	2	1	0	0	2	1	6	1	3	1	3	1	2	4	3	1	2	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:161993074C>T	ENST00000294794.3	-	1	570	c.147G>A	c.(145-147)gcG>gcA	p.A49A	OLFML2B_ENST00000367940.2_Silent_p.A49A	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	49										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCTGGTTGTCCGCCTCGTTTT	0.602													4	130					0	0	0	0	T	161993074	C	T	161993074	2	4	33	1	0	0	0	0	0	0	0	1	10929	639	23	1		1	OLFML2B	1	161993074	Silent	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	3245649	161993074	87257547	9	6349											
NCF2	4688	broad.mit.edu	37	chr1	183529314	183529314	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataactgaagagtgcctccActtggctgcctttcttaagc	9	12	8	12	0	1	2	0	1	1	1	2	2	2	2	3	1	4	1	3	1	3	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:183529314A>G	ENST00000413720.1	-	13	1524	c.1250T>C	c.(1249-1251)gTg>gCg	p.V417A	NCF2_ENST00000367536.1_Missense_Mutation_p.V462A|NCF2_ENST00000367535.3_Missense_Mutation_p.V462A|NCF2_ENST00000418089.1_Missense_Mutation_p.V381A	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	462	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						GAGTGCCTCCACTTGGCTGCC	0.468													38	184					0	0	0	0	G	183529314	A	G	183529314	3	3	33	1	0	0	0	0	1	0	0	0	10287	159	6	5	203	5	NCF2	1	183529314	Missense_Mutation	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	21536240	183529314	65721307	10	6350											
KCNT2	343450	broad.mit.edu	37	chr1	196309639	196309639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcataatgtatcgaggacCtggattcagcaaaatgtttt	13	14	8	6	1	2	0	2	0	0	0	3	3	2	2	1	2	1	3	1	2	4	6			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:196309639C>A	ENST00000367433.5	-	16	1716	c.1615G>T	c.(1615-1617)Ggt>Tgt	p.G539C	KCNT2_ENST00000451324.2_Missense_Mutation_p.G150C|KCNT2_ENST00000294725.8_Missense_Mutation_p.G539C|KCNT2_ENST00000367431.4_Missense_Mutation_p.G489C|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	539	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TATCGAGGACCTGGATTCAGC	0.318													18	78					2.4624e-09	2.75109e-09	1	0	A	196309639	C	A	196309639	3	1	33	1	0	0	0	0	1	0	0	0	8145	681	24	4	1844	4	KCNT2	1	196309639	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	12780325	196309639	52940982	11	6351											
APOB	338	broad.mit.edu	37	chr2	21225795	21225795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaacacgttatccttgaGtccctggaaactggcttggc	10	11	9	11	1	1	1	1	1	0	0	3	2	3	2	2	3	2	2	2	3	3	3			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:21225795G>A	ENST00000233242.1	-	29	12626	c.12499C>T	c.(12499-12501)Ctc>Ttc	p.L4167F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4167					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTATCCTTGAGTCCCTGGAAA	0.478													11	121					0	0	0	0	A	21225795	G	A	21225795	3	1	33	1	0	0	0	0	1	0	0	0	787	1029	36	4	1196	4	APOB	2	21225795	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08		21225795	221973578	12	6352											
SOS1	6654	broad.mit.edu	37	chr2	39237832	39237832	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttccaactaattctgaTggctgtacagctctaaaatc	13	12	5	11	0	2	1	0	1	2	0	4	1	3	1	1	1	3	3	1	1	5	5			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:39237832T>C	ENST00000426016.1	-	16	2489	c.2403A>G	c.(2401-2403)ccA>ccG	p.P801P	SOS1_ENST00000395038.2_Silent_p.P801P|SOS1_ENST00000402219.2_Silent_p.P801P			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	801	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CTAATTCTGATGGCTGTACAG	0.323									Noonan syndrome				4	42					0	0	0	0	C	39237832	T	C	39237832	2	2	33	1	0	0	0	0	0	0	0	1	15024	1451	51	5		5	SOS1	2	39237832	Silent	SNP	T	TCGA-BA-A6DI-01A-11D-A30E-08	18012037	39237832	203961541	13	6353											
FSHR	2492	broad.mit.edu	37	chr2	49381411	49381411	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctctgatactcacagttcaAtggcattcctcgggaggtca	9	11	9	12	1	4	1	3	1	1	0	6	2	5	2	2	3	1	2	2	3	2	3			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:49381411A>T	ENST00000406846.2	-	1	265	c.146T>A	c.(145-147)aTt>aAt	p.I49N	FSHR_ENST00000304421.4_Missense_Mutation_p.I49N|FSHR_ENST00000346173.3_Missense_Mutation_p.I49N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	49					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCACAGTTCAATGGCATTCCT	0.453									Gonadal Dysgenesis, 46 XX				7	39					0	0	0	0	T	49381411	A	T	49381411	3	4	33	1	0	0	0	0	1	0	0	0	6121	101	4	5	1981	5	FSHR	2	49381411	Missense_Mutation	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	10143579	49381411	193817962	14	6354											
BCL11A	53335	broad.mit.edu	37	chr2	60679703	60679703	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccacccctgggggcttcaAattttctcagaacttaaggg	9	10	9	13	0	2	1	2	0	1	1	3	1	2	1	4	3	1	1	4	3	3	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:60679703A>C	ENST00000538214.1	-	4	2513	c.2379T>G	c.(2377-2379)atT>atG	p.I793M	BCL11A_ENST00000537768.1_3'UTR|BCL11A_ENST00000356842.4_3'UTR|BCL11A_ENST00000359629.5_Missense_Mutation_p.I243M			Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGGGGCTTCAAATTTTCTCAG	0.547			T	IGH@	B-CLL								14	133					0	0	0	0	C	60679703	A	C	60679703	3	2	33	1	0	0	0	0	1	0	0	0	1367	10	1	5	6	5	BCL11A	2	60679703	Missense_Mutation	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	11298292	60679703	182519670	15	6355											
USP34	9736	broad.mit.edu	37	chr2	61441266	61441266	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctggtgagaagccagttGtcgtgtgaatgcaggagact	9	11	15	6	1	1	3	0	2	1	2	2	5	1	3	1	2	2	3	1	2	2	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:61441266G>C	ENST00000398571.2	-	68	8687	c.8611C>G	c.(8611-8613)Caa>Gaa	p.Q2871E	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2871					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GAAGCCAGTTGTCGTGTGAAT	0.478													16	60					0	0	0	0	C	61441266	G	C	61441266	3	2	33	1	0	0	0	0	1	0	0	0	17161	1386	48	4	2081	4	USP34	2	61441266	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	761563	61441266	181758107	16	6356											
INPP4A	3631	broad.mit.edu	37	chr2	99169316	99169316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagccaaggagatcatcGcccagatcaacaccctgaaa	15	5	8	13	1	3	4	3	1	0	3	4	5	3	4	3	1	2	0	3	1	3	0			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:99169316G>A	ENST00000074304.5	+	15	1639	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	INPP4A_ENST00000523221.1_Missense_Mutation_p.A416T|INPP4A_ENST00000409851.3_Missense_Mutation_p.A411T|INPP4A_ENST00000409016.3_Missense_Mutation_p.A416T|INPP4A_ENST00000409540.3_Missense_Mutation_p.A416T|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Missense_Mutation_p.A416T	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	416					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGATCATCGCCCAGATCAA	0.517													7	44					0	0	0	0	A	99169316	G	A	99169316	3	1	33	1	0	0	0	0	1	0	0	0	7805	1087	38	1	1296	1	INPP4A	2	99169316	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	37728050	99169316	144030057	17	6357											
XIRP2	129446	broad.mit.edu	37	chr2	168108369	168108369	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggcaagagagtggaagAgtttttaaaggcctgggata	13	9	15	4	1	0	2	0	0	0	2	0	5	0	4	1	4	0	2	1	4	5	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:168108369A>T	ENST00000409195.1	+	9	10556	c.10467A>T	c.(10465-10467)agA>agT	p.R3489S	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3489S|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3267S|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3314					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						AGAGTGGAAGAGTTTTTAAAG	0.393													8	82					0	0	0	0	T	168108369	A	T	168108369	3	4	33	1	0	0	0	0	1	0	0	0	17526	301	11	5	10497	5	XIRP2	2	168108369	Missense_Mutation	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	68939053	168108369	75091004	18	6358											
PLCD4	84812	broad.mit.edu	37	chr2	219500994	219500994	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatactgggggcagacactAtgtttccgggtgctggtgcc	6	10	14	11	1	0	1	0	0	0	1	1	1	1	1	3	4	3	3	3	4	2	3			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:219500994A>G	ENST00000450993.2	+	15	2400	c.2061A>G	c.(2059-2061)ctA>ctG	p.L687L	PLCD4_ENST00000417849.1_Silent_p.L687L|PLCD4_ENST00000432688.1_Silent_p.L719L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	687	C2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGCAGACACTATGTTTCCGGG	0.438													40	202					0	0	0	0	G	219500994	A	G	219500994	2	3	33	1	0	0	0	0	0	0	0	1	12105	436	16	5		5	PLCD4	2	219500994	Silent	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	51392625	219500994	23698379	19	6359											
FAM134A	79137	broad.mit.edu	37	chr2	220045437	220045437	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgctgtgttggctgtgttgGgacactatgttccagggatt	5	15	15	6	0	0	0	0	0	0	0	1	2	1	2	1	3	1	5	1	3	1	5			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:220045437G>T	ENST00000430297.2	+	5	737	c.601G>T	c.(601-603)Gga>Tga	p.G201*		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	201						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGTGTTGGGACACTATGT	0.498													32	213					2.20474e-14	2.56955e-14	1	0	T	220045437	G	T	220045437	4	4	33	1	0	0	0	0	0	1	0	0	5486	1233	43	4	619	4	FAM134A	2	220045437	Nonsense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	544443	220045437	23153936	20	6360											
XIRP1	165904	broad.mit.edu	37	chr3	39226144	39226144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccgacctcctggcctgagCcactgggcctggcgctactg	4	8	12	17	2	0	1	0	1	0	0	2	2	2	1	6	3	2	1	6	3	1	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:39226144C>A	ENST00000340369.3	-	2	5021	c.4793G>T	c.(4792-4794)gGc>gTc	p.G1598V	XIRP1_ENST00000421646.1_Missense_Mutation_p.G281V|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1598							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGGCCTGAGCCACTGGGCCT	0.562													43	199					1.57945e-13	1.82765e-13	1	0	A	39226144	C	A	39226144	3	1	33	1	0	0	0	0	1	0	0	0	17525	739	26	4	742	4	XIRP1	3	39226144	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08		39226144	158796286	21	6361											
CHMP2B	25978	broad.mit.edu	37	chr3	87302902	87302902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctcgaagcttaccatctgCctctacttcaaaggctacaa	11	11	6	13	1	3	0	1	0	2	0	4	1	3	0	2	1	6	3	2	1	6	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:87302902C>T	ENST00000263780.4	+	6	810	c.572C>T	c.(571-573)gCc>gTc	p.A191V	CHMP2B_ENST00000494980.1_Missense_Mutation_p.A161V|CHMP2B_ENST00000471660.1_Missense_Mutation_p.A150V	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	191					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TTACCATCTGCCTCTACTTCA	0.388													9	48					0	0	0	0	T	87302902	C	T	87302902	3	4	33	1	0	0	0	0	1	0	0	0	3384	739	26	4	594	4	CHMP2B	3	87302902	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	48076758	87302902	110719528	22	6362											
ZNF80	7634	broad.mit.edu	37	chr3	113955277	113955277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctttgcactcgtagggCtttcctgcagtgtgggtcat	5	15	11	10	1	2	0	1	0	1	0	4	0	3	0	1	2	2	4	1	2	1	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:113955277C>A	ENST00000482457.2	-	1	1148	c.645G>T	c.(643-645)aaG>aaT	p.K215N		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	215						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACTCGTAGGGCTTTCCTGCAG	0.493													14	134					6.31663e-08	6.82196e-08	1	0	A	113955277	C	A	113955277	3	1	33	1	0	0	0	0	1	0	0	0	18261	796	28	4	180	4	ZNF80	3	113955277	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	26652375	113955277	84067153	23	6363											
STXBP5L	9515	broad.mit.edu	37	chr3	120998674	120998674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatttgggaactgcaatGggttggctgtggtggatttt	6	16	15	4	0	0	0	0	0	0	0	0	2	0	2	0	5	3	4	0	5	2	5			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:120998674G>A	ENST00000273666.6	+	19	2252	c.1981G>A	c.(1981-1983)Ggg>Agg	p.G661R	STXBP5L_ENST00000497029.1_Missense_Mutation_p.G661R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G661R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G661R|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G661R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	661					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAACTGCAATGGGTTGGCTGT	0.373													34	105					0	0	0	0	A	120998674	G	A	120998674	3	1	33	1	0	0	0	0	1	0	0	0	15447	1348	47	4	2051	4	STXBP5L	3	120998674	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	7043397	120998674	77023756	24	6364											
CEP63	80254	broad.mit.edu	37	chr3	134265027	134265027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagagaattgaaggcagctCttcagtctcaagaaaatctc	15	9	9	8	0	4	4	2	1	3	3	6	5	4	4	0	1	1	2	0	1	5	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:134265027C>T	ENST00000337090.3	+	8	999	c.826C>T	c.(826-828)Ctt>Ttt	p.L276F	CEP63_ENST00000354446.3_Missense_Mutation_p.L276F|CEP63_ENST00000332047.5_Missense_Mutation_p.L276F|CEP63_ENST00000606977.1_Missense_Mutation_p.L276F|CEP63_ENST00000513612.2_Missense_Mutation_p.L276F|CEP63_ENST00000383229.3_Missense_Mutation_p.L276F			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	276					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAGGCAGCTCTTCAGTCTCA	0.358													30	75					0	0	0	0	T	134265027	C	T	134265027	3	4	33	1	0	0	0	0	1	0	0	0	3286	913	32	2	852	2	CEP63	3	134265027	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	13266353	134265027	63757403	25	6365											
ZIC4	84107	broad.mit.edu	37	chr3	147114093	147114093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggccgcaggccctggcggGaagggctccggccgcgcgta	4	3	19	15	7	0	0	0	0	0	0	1	1	1	1	4	6	0	3	4	6	2	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:147114093G>T	ENST00000383075.3	-	3	746	c.234C>A	c.(232-234)ttC>ttA	p.F78L	ZIC4_ENST00000484399.1_Missense_Mutation_p.F78L|ZIC4_ENST00000473123.1_Missense_Mutation_p.F78L|ZIC4_ENST00000425731.3_Missense_Mutation_p.F116L|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.F128L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	78						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCCCTGGCGGGAAGGGCTCCG	0.721													5	45					0.014758	0.0149425	1	0	T	147114093	G	T	147114093	3	4	33	1	0	0	0	0	1	0	0	0	17776	1165	41	2	782	2	ZIC4	3	147114093	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	12849066	147114093	50908337	26	6366											
IQCJ	654502	broad.mit.edu	37	chr3	158983040	158983040	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaagattcatccttacAtctcttggaggttgcagtca	9	14	10	8	0	3	1	2	0	1	1	5	3	4	3	1	3	2	2	1	3	2	5			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:158983040A>T	ENST00000482126.1	+	4	352	c.247A>T	c.(247-249)Atc>Ttc	p.I83F	IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ_ENST00000451172.1_Missense_Mutation_p.I110F|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron	NM_001197100.1	NP_001184029.1			IQ motif containing J											cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TCATCCTTACATCTCTTGGAG	0.468													30	220					0	0	0	0	T	158983040	A	T	158983040	3	4	33	1	0	0	0	0	1	0	0	0	7865	217	8	5	394	5	IQCJ	3	158983040	Missense_Mutation	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	11868947	158983040	39039390	27	6367											
DLG1	1739	broad.mit.edu	37	chr3	196842858	196842858	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagcaggtcctccggctaaGataaaggaaataaatattcc	15	9	8	9	1	1	1	1	0	0	1	4	2	4	2	3	3	1	2	3	3	7	5			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:196842858G>C	ENST00000346964.2	-	14	1671	c.1482C>G	c.(1480-1482)atC>atG	p.I494M	DLG1_ENST00000422288.1_Missense_Mutation_p.I443M|DLG1_ENST00000450955.1_Missense_Mutation_p.I461M|DLG1_ENST00000452595.1_Missense_Mutation_p.I378M|DLG1_ENST00000443183.1_Missense_Mutation_p.I378M|DLG1_ENST00000419354.1_Missense_Mutation_p.I494M|DLG1_ENST00000448528.2_Missense_Mutation_p.I494M|DLG1_ENST00000357674.4_Missense_Mutation_p.I461M|DLG1_ENST00000314062.3_Missense_Mutation_p.I443M|DLG1_ENST00000392382.2_Missense_Mutation_p.I461M	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	494	PDZ 3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTCCGGCTAAGATAAAGGAAA	0.408													19	162					0	0	0	0	C	196842858	G	C	196842858	3	2	33	1	0	0	0	0	1	0	0	0	4591	932	33	2	1388	2	DLG1	3	196842858	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	37859818	196842858	1179572	28	6368											
ZNF732	654254	broad.mit.edu	37	chr4	265307	265307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccacactcttcacattTgtaaggtttctctccagtat	8	17	5	11	0	3	0	1	0	2	0	5	0	4	0	2	1	1	3	2	1	2	6			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:265307T>C	ENST00000419098.1	-	4	1349	c.1339A>G	c.(1339-1341)Aaa>Gaa	p.K447E		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TCTTCACATTTGTAAGGTTTC	0.418													5	37					0	0	0	0	C	265307	T	C	265307	3	2	33	1	0	0	0	0	1	0	0	0	18218	1821	63	5	422	5	ZNF732	4	265307	Missense_Mutation	SNP	T	TCGA-BA-A6DI-01A-11D-A30E-08		265307	190888969	29	6369											
SH3BP2	6452	broad.mit.edu	37	chr4	2831401	2831401	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgctgaggactccaagagGgacccactgtgcccgaggcg	8	5	15	13	2	0	2	0	1	0	1	1	5	1	4	3	3	2	2	3	3	1	0			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:2831401G>A	ENST00000442312.2	+	8	1031	c.852G>A	c.(850-852)agG>agA	p.R284R	SH3BP2_ENST00000356331.5_Silent_p.R256R|SH3BP2_ENST00000452765.2_Silent_p.R256R|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000435136.2_Silent_p.R256R|SH3BP2_ENST00000503393.2_Silent_p.R313R|SH3BP2_ENST00000511747.1_Silent_p.R256R	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	256					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACTCCAAGAGGGACCCACTGT	0.687									Cherubism				16	70					0	0	0	0	A	2831401	G	A	2831401	2	1	33	1	0	0	0	0	0	0	0	1	14332	1223	43	4		4	SH3BP2	4	2831401	Silent	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	2566094	2831401	188322875	30	6370											
HTT	3064	broad.mit.edu	37	chr4	3182292	3182292	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctctttgtattaagaggaAcaaataaagctgatgcagga	16	10	9	6	0	1	2	0	1	1	1	1	4	1	4	1	2	3	3	1	2	6	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:3182292A>G	ENST00000355072.5	+	36	4808	c.4663A>G	c.(4663-4665)Aca>Gca	p.T1555A		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1555					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATTAAGAGGAACAAATAAAGC	0.443													23	111					0	0	0	0	G	3182292	A	G	3182292	3	3	33	1	0	0	0	0	1	0	0	0	7510	43	2	5	4805	5	HTT	4	3182292	Missense_Mutation	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	350891	3182292	187971984	31	6371											
REST	5978	broad.mit.edu	37	chr4	57796372	57796372	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaaaaaacagaaatagaaCaaacaaaaataaaaggggat	27	4	7	3	0	0	3	0	1	0	2	0	4	0	4	0	2	3	0	0	2	11	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:57796372C>T	ENST00000309042.7	+	4	1662	c.1348C>T	c.(1348-1350)Caa>Taa	p.Q450*		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	450	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGAAATAGAACAAACAAAAAT	0.323													23	57					0	0	0	0	T	57796372	C	T	57796372	4	4	33	1	0	0	0	0	0	1	0	0	13316	479	17	4	1358	4	REST	4	57796372	Nonsense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	54614080	57796372	133357904	32	6372											
SHROOM3	57619	broad.mit.edu	37	chr4	77700111	77700111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggactaccagcacttCgtgaaaatgaagtccacgct	12	8	8	13	2	0	2	0	2	0	0	3	3	2	3	3	1	2	2	3	1	4	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:77700111C>A	ENST00000296043.6	+	11	6725	c.5772C>A	c.(5770-5772)ttC>ttA	p.F1924L	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1924	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACCAGCACTTCGTGAAAATGA	0.567													47	106					3.05275e-18	3.60982e-18	1	0	A	77700111	C	A	77700111	3	1	33	1	0	0	0	0	1	0	0	0	14383	883	31	3	5814	3	SHROOM3	4	77700111	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	19903739	77700111	113454165	33	6373											
FAT1	2195	broad.mit.edu	37	chr4	187542357	187542357	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttatcagcatcagctgctcGaatcaccagtgggacattcc	10	11	8	12	1	3	0	3	0	0	0	5	2	4	1	2	1	3	3	2	1	2	3			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:187542357G>A	ENST00000441802.2	-	10	5592	c.5383C>T	c.(5383-5385)Cga>Tga	p.R1795*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1795	Cadherin 16.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCAGCTGCTCGAATCACCAGT	0.428										HNSCC(5;0.00058)			13	46					0	0	0	0	A	187542357	G	A	187542357	4	1	33	1	0	0	0	0	0	1	0	0	5734	1066	37	1	8455	1	FAT1	4	187542357	Nonsense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	109842246	187542357	3611919	34	6374											
PRDM9	56979	broad.mit.edu	37	chr5	23522481	23522481	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagggtcatgcatacaaaGaggtcagcgagccgcaggat	14	5	14	8	2	2	1	2	0	0	1	2	4	2	2	1	3	4	2	1	3	3	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:23522481G>T	ENST00000296682.3	+	7	759	c.577G>T	c.(577-579)Gag>Tag	p.E193*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	193					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGCATACAAAGAGGTCAGCGA	0.443										HNSCC(3;0.000094)			42	208					1.76056e-25	2.12843e-25	1	0	T	23522481	G	T	23522481	4	4	33	1	0	0	0	0	0	1	0	0	12543	943	33	2	599	2	PRDM9	5	23522481	Nonsense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08		23522481	157392779	35	6375											
SKIV2L2	23517	broad.mit.edu	37	chr5	54662563	54662563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcttagggctccgctgAtcctctaaatagtgctttcc	6	15	7	13	1	3	1	0	1	3	0	7	1	6	1	3	1	1	3	3	1	4	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:54662563A>G	ENST00000230640.5	+	16	1924	c.1670A>G	c.(1669-1671)gAt>gGt	p.D557G	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D456G	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	557	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GGCTCCGCTGATCCTCTAAAT	0.333													12	61					0	0	0	0	G	54662563	A	G	54662563	3	3	33	1	0	0	0	0	1	0	0	0	14448	333	12	5	1732	5	SKIV2L2	5	54662563	Missense_Mutation	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	31140082	54662563	126252697	36	6376											
DMGDH	29958	broad.mit.edu	37	chr5	78294107	78294107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctatagcttccagatgtcGtgttgccaaccacctggaaa	11	10	9	11	1	0	1	0	0	0	1	2	2	1	2	4	1	4	3	4	1	4	4	rs151220884	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:78294107G>A	ENST00000255189.3	-	16	2427	c.2399C>T	c.(2398-2400)aCg>aTg	p.T800M		NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	800					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCCAGATGTCGTGTTGCCAAC	0.458													6	20					0	0	0	0	A	78294107	G	A	78294107	3	1	33	1	0	0	0	0	1	0	0	0	4618	1145	40	1	205	1	DMGDH	5	78294107	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	23631544	78294107	102621153	37	6377											
ACSL6	23305	broad.mit.edu	37	chr5	131303709	131303709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgattgcagggaagtggcGcccctacgtgccctggaaca	9	8	13	11	2	0	1	0	1	0	0	0	3	0	3	3	3	4	1	3	3	4	3			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:131303709G>A	ENST00000379264.2	-	16	1628	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	ACSL6_ENST00000379246.1_Missense_Mutation_p.A493V|ACSL6_ENST00000431707.1_Missense_Mutation_p.A462V|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000357096.1_Missense_Mutation_p.A407V|ACSL6_ENST00000379244.1_Missense_Mutation_p.A482V|ACSL6_ENST00000379272.2_Missense_Mutation_p.A497V|ACSL6_ENST00000379255.1_Missense_Mutation_p.A407V|ACSL6_ENST00000544770.1_Missense_Mutation_p.A391V|ACSL6_ENST00000379240.1_Missense_Mutation_p.A482V|ACSL6_ENST00000379249.3_Missense_Mutation_p.A482V|ACSL6_ENST00000296869.4_Missense_Mutation_p.A507V|ACSL6_ENST00000543479.1_Missense_Mutation_p.A482V	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	482					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGAAGTGGCGCCCCTACGTG	0.478													4	116					0	0	0	0	A	131303709	G	A	131303709	3	1	33	1	0	0	0	0	1	0	0	0	181	1087	38	1	672	1	ACSL6	5	131303709	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	53009602	131303709	49611551	38	6378											
TIMD4	91937	broad.mit.edu	37	chr5	156390192	156390192	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaatcatcagccagagaatGagaggttctttggacatttt	12	13	9	7	0	4	2	3	1	1	2	4	5	4	3	1	2	1	1	1	2	2	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:156390192G>A	ENST00000274532.2	-	1	74	c.18C>T	c.(16-18)ctC>ctT	p.L6L	TIMD4_ENST00000407087.3_Silent_p.L6L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	6						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCAGAGAATGAGAGGTTCTT	0.453													17	98					0	0	0	0	A	156390192	G	A	156390192	2	1	33	1	0	0	0	0	0	0	0	1	15997	1277	45	2		2	TIMD4	5	156390192	Silent	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	25086483	156390192	24525068	39	6379											
TAP2	6891	broad.mit.edu	37	chr6	32798443	32798443	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatatgcaaaggagacgtcTtggaatttcacaaccccctg	12	9	10	10	1	2	1	1	0	1	1	2	4	2	3	2	3	2	1	2	3	4	3			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:32798443T>C	ENST00000374897.2	-	8	1544	c.1413A>G	c.(1411-1413)caA>caG	p.Q471Q	TAP2_ENST00000452392.2_Silent_p.Q471Q|TAP2_ENST00000374899.4_Silent_p.Q471Q	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	471	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										AGGAGACGTCTTGGAATTTCA	0.552													8	53					0	0	0	0	C	32798443	T	C	32798443	2	2	33	1	0	0	0	0	0	0	0	1	15642	1606	56	5		5	TAP2	6	32798443	Silent	SNP	T	TCGA-BA-A6DI-01A-11D-A30E-08		32798443	138316624	40	6380											
AARS2	57505	broad.mit.edu	37	chr6	44271136	44271136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgttctccactgcccGgagctgctctggggtcaatg	6	10	12	13	1	3	0	1	0	2	0	4	1	3	1	2	3	3	3	2	3	1	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:44271136G>A	ENST00000244571.4	-	15	2034	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	678					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TCCACTGCCCGGAGCTGCTCT	0.622													5	71					0	0	0	0	A	44271136	G	A	44271136	3	1	33	1	0	0	0	0	1	0	0	0	20	1115	39	1	957	1	AARS2	6	44271136	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	11472693	44271136	126843931	41	6381											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	15	0	13	13	0	0	0	0	0	0	0	0	1	0	1	0	1	12	11	0	1	1	0			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													3	57					0	0	0	0	G	45390466	A	G	45390466	2	3	33	1	0	0	0	0	0	0	0	1	13833	40	2	5		5	RUNX2	6	45390466	Silent	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	1119330	45390466	125724601	42	6382											
BCKDHB	594	broad.mit.edu	37	chr6	80910677	80910677	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtccctatagaaccatacAacatcccactgtcccaggcc	13	7	5	16	0	0	1	0	0	0	1	3	1	3	1	5	1	3	0	5	1	6	3			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:80910677A>G	ENST00000320393.6	+	7	816	c.769A>G	c.(769-771)Aac>Gac	p.N257D	BCKDHB_ENST00000356489.5_Missense_Mutation_p.N257D|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	257					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		AGAACCATACAACATCCCACT	0.408													7	61					0	0	0	0	G	80910677	A	G	80910677	3	3	33	1	0	0	0	0	1	0	0	0	1364	130	5	5	795	5	BCKDHB	6	80910677	Missense_Mutation	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	35520211	80910677	90204390	43	6383											
TULP4	56995	broad.mit.edu	37	chr6	158923680	158923680	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaacaaccgtgaggctacGctcaagatggcccagctggc	11	5	13	12	2	1	2	1	1	0	1	1	3	1	3	2	4	4	3	2	4	4	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:158923680G>A	ENST00000367097.3	+	13	4342	c.2985G>A	c.(2983-2985)acG>acA	p.T995T	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	995					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGAGGCTACGCTCAAGATGG	0.706													3	33					0	0	0	0	A	158923680	G	A	158923680	2	1	33	1	0	0	0	0	0	0	0	1	16872	1074	38	1		1	TULP4	6	158923680	Silent	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	78013003	158923680	12191387	44	6384											
ABCB5	340273	broad.mit.edu	37	chr7	20706380	20706380	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttcaatattgtattttctAgaaaaaataatacaacaaag	19	14	3	5	0	2	1	1	0	1	1	2	1	2	1	0	0	2	1	0	0	11	9			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr7:20706380A>T	ENST00000406935.1	+	6	918		c.e6-1		ABCB5_ENST00000258738.6_Intron|ABCB5_ENST00000404938.2_Intron	NM_001163993.1	NP_001157465.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5						regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGTATTTTCTAGAAAAAATAA	0.333													3	23					0	0	0	0	T	20706380	A	T	20706380	5	4	33	1	0	0	0	0	0	0	1	0	44	434	15	5	1788	5	ABCB5	7	20706380	Splice_Site	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08		20706380	138432283	45	6385											
CCT6A	908	broad.mit.edu	37	chr7	56127965	56127965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttttctacacatagggaGaagagaagtttacctttatt	13	16	7	5	0	1	2	0	0	1	2	1	4	1	2	1	1	2	1	1	1	6	10			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr7:56127965G>A	ENST00000275603.4	+	10	1288	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	CCT6A_ENST00000540286.1_Missense_Mutation_p.E326K|CCT6A_ENST00000335503.3_Missense_Mutation_p.E312K	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	357					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACATAGGGAGAAGAGAAGTT	0.358													7	54					0	0	0	0	A	56127965	G	A	56127965	3	1	33	1	0	0	0	0	1	0	0	0	2986	943	33	2	1107	2	CCT6A	7	56127965	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	35421585	56127965	103010698	46	6386											
RELN	5649	broad.mit.edu	37	chr7	103417017	103417017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttacctccttgttcacaCaactgctgggctaaagcatc	9	11	7	14	1	1	0	1	0	0	0	3	0	2	0	2	1	4	5	2	1	4	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr7:103417017C>T	ENST00000424685.2	-	4	690	c.531G>A	c.(529-531)ttG>ttA	p.L177L	RELN_ENST00000343529.5_Silent_p.L177L|RELN_ENST00000428762.1_Silent_p.L177L			P78509	RELN_HUMAN	reelin	177	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTGTTCACACAACTGCTGGG	0.398													13	115					0	0	0	0	T	103417017	C	T	103417017	2	4	33	1	0	0	0	0	0	0	0	1	13302	477	17	4		4	RELN	7	103417017	Silent	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	47289052	103417017	55721646	47	6387											
PNMA2	10687	broad.mit.edu	37	chr8	26366088	26366088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctagtaagacagcattggCattctcctgcttccggaata	10	12	8	11	1	2	1	0	0	2	1	4	2	3	2	2	2	2	4	2	2	4	6			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:26366088C>T	ENST00000522362.2	-	3	1078	c.184G>A	c.(184-186)Gcc>Acc	p.A62T		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	62					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		acagcattggcattctcctgc	0.502													21	73					0	0	0	0	T	26366088	C	T	26366088	3	4	33	1	0	0	0	0	1	0	0	0	12226	710	25	4	914	4	PNMA2	8	26366088	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08		26366088	119997934	48	6388											
IKBKB	3551	broad.mit.edu	37	chr8	42179463	42179463	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactaagggaaaaacctcgaGgtaagtggggttctgtgtct	11	10	14	6	1	2	0	0	0	2	0	3	3	2	1	1	4	1	2	1	4	4	3			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:42179463G>T	ENST00000520810.1	+	17	1924	c.1738_splice	c.e17+1	p.D580_splice	IKBKB_ENST00000520835.1_Splice_Site_p.D578_splice|IKBKB_ENST00000379708.3_Splice_Site_p.D357_splice|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Splice_Site_p.D521_splice	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	580					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AAAACCTCGAGGTAAGTGGGG	0.463													14	55					3.27435e-08	3.58409e-08	1	0	T	42179463	G	T	42179463	5	4	33	1	0	0	0	0	0	0	1	0	7664	1014	35	4	1800	4	IKBKB	8	42179463	Splice_Site	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	15813375	42179463	104184559	49	6389											
RP1	6101	broad.mit.edu	37	chr8	55539400	55539400	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtttgacaggagataatctAtgtaaagagggagataagtc	15	10	13	3	0	1	4	0	1	1	3	2	6	1	4	0	3	0	2	0	3	5	5			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:55539400A>G	ENST00000220676.1	+	4	3106	c.2958A>G	c.(2956-2958)ctA>ctG	p.L986L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	986					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGATAATCTATGTAAAGAGG	0.373													65	194					0	0	0	0	G	55539400	A	G	55539400	2	3	33	1	0	0	0	0	0	0	0	1	13617	436	16	5		5	RP1	8	55539400	Silent	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	13359937	55539400	90824622	50	6390											
UBR5	51366	broad.mit.edu	37	chr8	103338797	103338797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtaccaacagtgatgttcgGcattgaagaaataccagcac	14	8	10	9	1	0	3	0	2	0	1	1	3	0	3	2	2	4	4	2	2	5	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:103338797G>A	ENST00000520539.1	-	13	2182	c.1576C>T	c.(1576-1578)Ccg>Tcg	p.P526S	UBR5_ENST00000521922.1_Missense_Mutation_p.P520S|UBR5_ENST00000220959.4_Missense_Mutation_p.P526S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	526					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTGATGTTCGGCATTGAAGAA	0.393													13	126					0	0	0	0	A	103338797	G	A	103338797	3	1	33	1	0	0	0	0	1	0	0	0	17001	1203	42	4	7011	4	UBR5	8	103338797	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	47799397	103338797	43025225	51	6391											
TRPS1	7227	broad.mit.edu	37	chr8	116427276	116427276	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctaataatctgctcacCgttgttttgtttaatgatgt	8	18	6	9	1	2	1	1	1	1	0	3	1	3	1	3	0	1	4	3	0	3	7			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:116427276C>G	ENST00000395715.3	-	7	3437	c.2860G>C	c.(2860-2862)Ggt>Cgt	p.G954R	TRPS1_ENST00000520276.1_Missense_Mutation_p.G945R|TRPS1_ENST00000220888.5_Missense_Mutation_p.G941R|TRPS1_ENST00000519076.1_Missense_Mutation_p.G695R	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	941					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATCTGCTCACCGTTGTTTTGT	0.403									Langer-Giedion syndrome				24	185					0	0	0	0	G	116427276	C	G	116427276	3	3	33	1	0	0	0	0	1	0	0	0	16688	652	23	3	1028	3	TRPS1	8	116427276	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	13088479	116427276	29936746	52	6392											
TRAPPC9	83696	broad.mit.edu	37	chr8	140743397	140743397	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgctgtcctcgtggaaccgGatgtggaggaagaagtctcc	8	9	15	9	2	1	1	0	0	1	1	4	5	2	5	3	4	2	1	3	4	3	0			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:140743397G>T	ENST00000389328.4	-	23	3662	c.3648C>A	c.(3646-3648)atC>atA	p.I1216I	TRAPPC9_ENST00000438773.2_Silent_p.I1118I|TRAPPC9_ENST00000389327.3_Silent_p.I1109I|TRAPPC9_ENST00000522504.1_5'UTR	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1118					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CGTGGAACCGGATGTGGAGGA	0.657													15	73					6.72482e-11	7.61833e-11	1	0	T	140743397	G	T	140743397	2	4	33	1	0	0	0	0	0	0	0	1	16560	1164	41	2		2	TRAPPC9	8	140743397	Silent	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	24316121	140743397	5620625	53	6393											
PTK2	5747	broad.mit.edu	37	chr8	141874446	141874446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcaaagttggcttatcttCagtaaactggtttagaaatc	13	15	7	6	0	3	1	2	0	1	1	4	1	3	1	0	2	1	4	0	2	6	7			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:141874446C>T	ENST00000522684.1	-	5	644	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	PTK2_ENST00000519419.1_Missense_Mutation_p.E183K|PTK2_ENST00000517887.1_Missense_Mutation_p.E183K|PTK2_ENST00000340930.3_Missense_Mutation_p.E139K|PTK2_ENST00000535192.1_Missense_Mutation_p.E139K|PTK2_ENST00000395218.2_Missense_Mutation_p.E139K|PTK2_ENST00000521059.1_Missense_Mutation_p.E139K	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	139	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GGCTTATCTTCAGTAAACTGG	0.274													41	82					0	0	0	0	T	141874446	C	T	141874446	3	4	33	1	0	0	0	0	1	0	0	0	12842	835	29	2	2855	2	PTK2	8	141874446	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	1131049	141874446	4489576	54	6394											
SNAPC3	6619	broad.mit.edu	37	chr9	15447132	15447132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accaaacaatgctggtgttgGgcagtcaaaaactcacacaa	16	7	8	10	0	2	0	2	0	0	0	2	0	2	0	1	2	3	3	1	2	5	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr9:15447132G>T	ENST00000380821.3	+	5	798	c.622G>T	c.(622-624)Ggc>Tgc	p.G208C	SNAPC3_ENST00000380799.1_Missense_Mutation_p.G5C	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	208					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		GCTGGTGTTGGGCAGTCAAAA	0.413													26	372					3.28513e-13	3.7744e-13	1	0	T	15447132	G	T	15447132	3	4	33	1	0	0	0	0	1	0	0	0	14924	1232	43	4	640	4	SNAPC3	9	15447132	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08		15447132	125766299	55	6395											
PIP5K1B	8395	broad.mit.edu	37	chr9	71503990	71503990	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgatgaatttatcatcAaaacagttcagcacaaagaa	18	10	7	6	0	3	4	3	3	0	1	3	4	3	4	0	0	2	2	0	0	6	3			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr9:71503990A>G	ENST00000265382.3	+	7	717	c.412A>G	c.(412-414)Aaa>Gaa	p.K138E	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.K138E	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	138	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ATTTATCATCAAAACAGTTCA	0.393													39	78					0	0	0	0	G	71503990	A	G	71503990	3	3	33	1	0	0	0	0	1	0	0	0	12012	131	5	5	426	5	PIP5K1B	9	71503990	Missense_Mutation	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	56056858	71503990	69709441	56	6396											
TNC	3371	broad.mit.edu	37	chr9	117848674	117848674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctcgacacagcggccccGactgtgacagtcattggggc	7	6	13	15	3	1	1	1	1	0	0	2	3	1	1	3	3	1	0	3	3	0	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr9:117848674G>A	ENST00000350763.4	-	3	1747	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	TNC_ENST00000341037.4_Missense_Mutation_p.R446W|TNC_ENST00000346706.3_Missense_Mutation_p.R446W|TNC_ENST00000345230.3_Missense_Mutation_p.R446W|TNC_ENST00000542877.1_Missense_Mutation_p.R446W|TNC_ENST00000537320.1_Missense_Mutation_p.R446W|TNC_ENST00000535648.1_Missense_Mutation_p.R446W|TNC_ENST00000340094.3_Missense_Mutation_p.R446W|TNC_ENST00000423613.2_Missense_Mutation_p.R446W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	446	EGF-like 10.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGCGGCCCCGACTGTGACAG	0.587													11	180					0	0	0	0	A	117848674	G	A	117848674	3	1	33	1	0	0	0	0	1	0	0	0	16364	1057	37	1	5373	1	TNC	9	117848674	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	46344684	117848674	23364757	57	6397											
CUBN	8029	broad.mit.edu	37	chr10	17126399	17126399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgagtgaaaggcccagaCaactcaggcaagaagagttc	14	6	13	8	0	1	5	1	2	0	3	2	5	1	5	1	2	1	2	1	2	4	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:17126399C>A	ENST00000377833.4	-	17	2237	c.2172G>T	c.(2170-2172)ttG>ttT	p.L724F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	724	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGGCCCAGACAACTCAGGCA	0.527													10	27					0.000442599	0.000465592	1	0	A	17126399	C	A	17126399	3	1	33	1	0	0	0	0	1	0	0	0	4083	477	17	4	8903	4	CUBN	10	17126399	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08		17126399	118408348	58	6398											
CDH23	64072	broad.mit.edu	37	chr10	73453969	73453969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatacatcctcatcgttcgcGcagtggacgggggtgtgggc	7	9	15	10	4	1	0	1	0	0	0	4	1	2	1	1	4	1	2	1	4	2	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:73453969G>T	ENST00000224721.6	+	20	2262	c.2257G>T	c.(2257-2259)Gca>Tca	p.A753S	CDH23_ENST00000299366.7_Missense_Mutation_p.A793S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	748	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATCGTTCGCGCAGTGGACGG	0.627													8	28					7.48243e-07	7.97469e-07	1	0	T	73453969	G	T	73453969	3	4	33	1	0	0	0	0	1	0	0	0	3137	1087	38	3	2547	3	CDH23	10	73453969	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	56327570	73453969	62080778	59	6399											
FAM35A	54537	broad.mit.edu	37	chr10	88930360	88930360	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagtatagactttgtagaaTtggagcaccttcaacctgat	13	12	8	8	0	1	3	1	1	0	2	1	4	1	4	2	1	2	3	2	1	5	6			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:88930360T>C	ENST00000298786.4	+	5	1873	c.1759T>C	c.(1759-1761)Ttg>Ctg	p.L587L	FAM35A_ENST00000298784.1_Silent_p.L587L			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	587										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CTTTGTAGAATTGGAGCACCT	0.413													30	91					0	0	0	0	C	88930360	T	C	88930360	2	2	33	1	0	0	0	0	0	0	0	1	5600	1490	52	5		5	FAM35A	10	88930360	Silent	SNP	T	TCGA-BA-A6DI-01A-11D-A30E-08	15476391	88930360	46604387	60	6400											
DMBT1	1755	broad.mit.edu	37	chr10	124345706	124345706	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaccaatgatgccaatgtGgtctgcaggcagctgggctg	9	8	14	10	0	1	1	0	1	1	0	1	2	1	1	2	3	3	4	2	3	2	0			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:124345706G>T	ENST00000368909.3	+	16	1696	c.1590G>T	c.(1588-1590)gtG>gtT	p.V530V	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000338354.3_Silent_p.V530V|DMBT1_ENST00000344338.3_Silent_p.V520V|DMBT1_ENST00000368955.3_Silent_p.V520V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	530	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGCCAATGTGGTCTGCAGGC	0.612													89	651					2.63401e-43	3.30783e-43	1	0	T	124345706	G	T	124345706	2	4	33	1	0	0	0	0	0	0	0	1	4614	1335	47	4		4	DMBT1	10	124345706	Silent	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	35415346	124345706	11189041	61	6401											
DMBT1	1755	broad.mit.edu	37	chr10	124358528	124358528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgcgctgctcaggacaCgagtcttacctgtggagctg	7	10	14	10	2	2	0	1	0	1	0	2	4	2	2	1	2	4	3	1	2	1	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:124358528C>A	ENST00000368909.3	+	26	3301	c.3195C>A	c.(3193-3195)caC>caA	p.H1065Q	DMBT1_ENST00000368956.2_Missense_Mutation_p.H566Q|DMBT1_ENST00000338354.3_Missense_Mutation_p.H1065Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.H1055Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.H1055Q|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.H566Q	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1065	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTCAGGACACGAGTCTTACC	0.597													28	176					8.24728e-16	9.68159e-16	1	0	A	124358528	C	A	124358528	3	1	33	1	0	0	0	0	1	0	0	0	4614	535	19	3	3297	3	DMBT1	10	124358528	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	12822	124358528	11176219	62	6402											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5664829	5664829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaatgtcacaagccatGgctccctcatttacaagttc	10	14	5	12	0	3	0	3	0	0	0	5	0	4	0	2	1	2	2	2	1	4	5			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:5664829G>A	ENST00000354852.5	+	14	2592	c.2419G>A	c.(2419-2421)Ggc>Agc	p.G807S	TRIM34_ENST00000495668.1_3'UTR|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.G453S|TRIM34_ENST00000514226.1_Missense_Mutation_p.G453S|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.G453S	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		807						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CACAAGCCATGGCTCCCTCAT	0.473													28	183					0	0	0	0	A	5664829	G	A	5664829	3	1	33	1	0	0	0	0	1	0	0	0	16629	1348	47	4	2446	4	TRIM6-TRIM34	11	5664829	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08		5664829	129341687	63	6403											
ARNTL	406	broad.mit.edu	37	chr11	13391307	13391307	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcccctctacctgctcaaaGaaaaaaggtaacaatttaac	16	10	4	11	0	2	1	1	0	1	1	3	1	3	1	3	1	4	2	3	1	8	5			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:13391307G>A	ENST00000389708.3	+	12	1168	c.813G>A	c.(811-813)aaG>aaA	p.K271K	ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000403290.1_Silent_p.K271K|ARNTL_ENST00000403482.3_Silent_p.K269K|ARNTL_ENST00000401424.1_Silent_p.K228K|ARNTL_ENST00000403510.3_Silent_p.K228K|ARNTL_ENST00000396441.3_Silent_p.K271K|ARNTL_ENST00000389707.4_Silent_p.K271K|ARNTL_ENST00000361003.4_Silent_p.K271K			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	271					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.K271N(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CCTGCTCAAAGAAAAAAGGTA	0.458													5	92					0	0	0	0	A	13391307	G	A	13391307	2	1	33	1	0	0	0	0	0	0	0	1	971	933	33	2		2	ARNTL	11	13391307	Silent	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	7726478	13391307	121615209	64	6404											
FAR1	84188	broad.mit.edu	37	chr11	13733566	13733566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgtcaacatgagtcttgCggcagcctggtattccggag	8	11	13	9	2	2	1	1	1	1	0	3	2	3	2	2	3	3	3	2	3	2	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:13733566C>T	ENST00000354817.3	+	7	1004	c.860C>T	c.(859-861)gCg>gTg	p.A287V	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	287					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						ATGAGTCTTGCGGCAGCCTGG	0.408													4	77					0	0	0	0	T	13733566	C	T	13733566	3	4	33	1	0	0	0	0	1	0	0	0	5719	768	27	1	882	1	FAR1	11	13733566	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	342259	13733566	121272950	65	6405											
NAV2	89797	broad.mit.edu	37	chr11	20119158	20119158	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcgacccagtgagtcagctAgggctgaattcagacagcgt	10	8	13	10	2	2	3	2	2	0	1	3	4	2	3	1	1	2	2	1	1	2	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:20119158A>T	ENST00000396085.1	+	32	6418	c.6057A>T	c.(6055-6057)ctA>ctT	p.L2019L	NAV2_ENST00000527559.2_Silent_p.L2004L|NAV2_ENST00000396087.3_Silent_p.L2075L|NAV2_ENST00000349880.4_Silent_p.L2016L|NAV2_ENST00000540292.1_Silent_p.L2006L|NAV2_ENST00000360655.4_Silent_p.L1952L|NAV2_ENST00000311043.8_Silent_p.L1080L|NAV2_ENST00000533917.1_Silent_p.L1080L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2075						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGAGTCAGCTAGGGCTGAATT	0.453													19	83					0	0	0	0	T	20119158	A	T	20119158	2	4	33	1	0	0	0	0	0	0	0	1	10254	407	15	5		5	NAV2	11	20119158	Silent	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	6385592	20119158	114887358	66	6406											
IMMP1L	196294	broad.mit.edu	37	chr11	31454100	31454100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgtaaaaatccaaaatCactcagaggccaaatctgta	17	7	7	10	1	3	1	2	0	1	1	4	1	4	1	2	2	0	3	2	2	7	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:31454100C>A	ENST00000278200.1	-	7	643	c.448G>T	c.(448-450)Gat>Tat	p.D150Y	IMMP1L_ENST00000532287.1_Missense_Mutation_p.D150Y|IMMP1L_ENST00000526776.1_Missense_Mutation_p.D78Y|IMMP1L_ENST00000534812.1_Missense_Mutation_p.D41Y|IMMP1L_ENST00000533642.1_Missense_Mutation_p.D41Y	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	150					proteolysis	mitochondrial inner membrane	serine-type peptidase activity			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					AATCCAAAATCACTCAGAGGC	0.338													11	64					0.000978159	0.00101578	1	0	A	31454100	C	A	31454100	3	1	33	1	0	0	0	0	1	0	0	0	7769	826	29	2	56	2	IMMP1L	11	31454100	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	11334942	31454100	103552416	67	6407											
OR4C6	219432	broad.mit.edu	37	chr11	55433356	55433356	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaaagccctctctacctgCagctcccacctcacggtggt	8	8	7	18	1	2	0	1	0	1	0	4	0	3	0	4	2	4	2	4	2	2	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:55433356C>A	ENST00000314259.3	+	1	743	c.714C>A	c.(712-714)tgC>tgA	p.C238*		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTCTACCTGCAGCTCCCACC	0.502													22	155					2.70639e-06	2.86559e-06	1	0	A	55433356	C	A	55433356	4	1	33	1	0	0	0	0	0	1	0	0	11123	718	25	4	716	4	OR4C6	11	55433356	Nonsense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	23979256	55433356	79573160	68	6408											
OR5D16	390144	broad.mit.edu	37	chr11	55606535	55606535	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggatgtttggtgcaatTctttttcttttgcacctttg	5	20	8	8	0	3	0	1	0	2	0	3	1	3	1	1	2	2	3	1	2	1	7			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:55606535T>G	ENST00000378396.1	+	1	308	c.308T>G	c.(307-309)tTc>tGc	p.F103C		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTGGTGCAATTCTTTTTCTTT	0.413													45	206					0	0	0	0	G	55606535	T	G	55606535	3	3	33	1	0	0	0	0	1	0	0	0	11227	1783	62	5	310	5	OR5D16	11	55606535	Missense_Mutation	SNP	T	TCGA-BA-A6DI-01A-11D-A30E-08	173179	55606535	79399981	69	6409											
OR5D16	390144	broad.mit.edu	37	chr11	55606580	55606580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgaattaattctatttgCggtgatggcctatgaccact	10	14	9	8	1	1	3	0	3	1	0	1	4	1	3	2	2	1	0	2	2	4	5			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:55606580C>T	ENST00000378396.1	+	1	353	c.353C>T	c.(352-354)gCg>gTg	p.A118V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A118V(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ATTCTATTTGCGGTGATGGCC	0.423													38	167					0	0	0	0	T	55606580	C	T	55606580	3	4	33	1	0	0	0	0	1	0	0	0	11227	768	27	1	355	1	OR5D16	11	55606580	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	45	55606580	79399936	70	6410											
FAT3	120114	broad.mit.edu	37	chr11	92531811	92531811	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaggtgacagatgtgaatGataacccacctgtttttact	11	14	9	7	0	0	5	0	4	0	1	0	5	0	5	2	1	2	1	2	1	3	5			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:92531811G>C	ENST00000298047.6	+	9	5649	c.5632G>C	c.(5632-5634)Gat>Cat	p.D1878H	FAT3_ENST00000409404.2_Missense_Mutation_p.D1878H|FAT3_ENST00000525166.1_Missense_Mutation_p.D1728H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1878	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGATGTGAATGATAACCCACC	0.458										TCGA Ovarian(4;0.039)			4	43					0	0	0	0	C	92531811	G	C	92531811	3	2	33	1	0	0	0	0	1	0	0	0	5736	1290	45	2	5666	2	FAT3	11	92531811	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	36925231	92531811	42474705	71	6411											
CXCR5	643	broad.mit.edu	37	chr11	118765167	118765167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctctccccgtggccatcaCcatgtgtgagttcctgggcc	4	11	10	16	1	2	1	1	1	1	0	5	1	4	1	6	2	0	1	6	2	0	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:118765167C>T	ENST00000292174.4	+	2	1090	c.914C>T	c.(913-915)aCc>aTc	p.T305I	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	305					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GTGGCCATCACCATGTGTGAG	0.612													15	112					0	0	0	0	T	118765167	C	T	118765167	3	4	33	1	0	0	0	0	1	0	0	0	4126	507	18	4	920	4	CXCR5	11	118765167	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	26233356	118765167	16241349	72	6412											
OR8A1	390275	broad.mit.edu	37	chr11	124440375	124440375	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctgacagtgatggcctaCgaccgctatgttgccatctg	8	11	11	11	2	1	2	0	2	1	0	1	3	1	2	3	1	3	3	3	1	2	3			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:124440375C>T	ENST00000284287.3	+	1	483	c.411C>T	c.(409-411)taC>taT	p.Y137Y		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGATGGCCTACGACCGCTATG	0.493													13	89					0	0	0	0	T	124440375	C	T	124440375	2	4	33	1	0	0	0	0	0	0	0	1	11296	547	19	1		1	OR8A1	11	124440375	Silent	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	5675208	124440375	10566141	73	6413											
CCDC15	80071	broad.mit.edu	37	chr11	124857643	124857643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttctacctaaggaccaGaattttttgtctagagacca	13	14	6	8	0	2	2	0	0	2	2	2	4	2	3	3	1	1	0	3	1	5	8			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:124857643G>T	ENST00000529051.1	+	8	1780	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H	CCDC15_ENST00000344762.5_Missense_Mutation_p.Q507H			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	507						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CTAAGGACCAGAATTTTTTGT	0.388													61	293					2.53126e-37	3.15434e-37	1	0	T	124857643	G	T	124857643	3	4	33	1	0	0	0	0	1	0	0	0	2809	933	33	2	1547	2	CCDC15	11	124857643	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	417268	124857643	10148873	74	6414											
LPCAT3	10162	broad.mit.edu	37	chr12	7086862	7086863	+	Frame_Shift_Ins	INS	-	-	G																															atagcaacgagagaccctgaINSgagagttctttatttccaag																										TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:7086862_7086863insG	ENST00000261407.4	-	10	1170_1171	c.1085_1086insC	c.(1084-1086)tcafs	p.S362fs	U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_Intron	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	362					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AGAGACCCTGAGAGAGTTCTTT	0.52													27	230	---	---	---	---					G	7086863	-	G	7086862	7	5	33	1	0	1	1	0	0	0	0	0	8976	291	11	0	389	0	LPCAT3	12	7086862	Frame_Shift_Ins	INS	-	TCGA-BA-A6DI-01A-11D-A30E-08		7086862	126765033	75	6415											
PRB4	5545	broad.mit.edu	37	chr12	11461265	11461265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggctttccagcaggaggtgCctgaggctgctggggattgc	5	9	18	9	0	0	1	0	1	0	0	1	3	1	3	2	6	4	4	2	6	0	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:11461265C>T	ENST00000279575.1	-	3	685	c.652G>A	c.(652-654)Gca>Aca	p.A218T	PRB4_ENST00000535904.1_Missense_Mutation_p.A218T|PRB4_ENST00000445719.2_Missense_Mutation_p.A149T	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	281	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GCAGGAGGTGCCTGAGGCTGC	0.642										HNSCC(22;0.051)			77	286					0	0	0	0	T	11461265	C	T	11461265	3	4	33	1	0	0	0	0	1	0	0	0	12525	739	26	4	95	4	PRB4	12	11461265	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	4374403	11461265	122390630	76	6416											
GYS2	2998	broad.mit.edu	37	chr12	21727085	21727085	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaatatttaccttatcaAgatggttgtagaaatcaata	17	13	7	4	0	2	2	2	0	0	2	2	3	2	3	1	2	1	2	1	2	10	7			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:21727085A>C	ENST00000261195.2	-	4	925	c.671T>G	c.(670-672)cTt>cGt	p.L224R		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	224					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TACCTTATCAAGATGGTTGTA	0.408													22	50					0	0	0	0	C	21727085	A	C	21727085	3	2	33	1	0	0	0	0	1	0	0	0	6963	72	3	5	1492	5	GYS2	12	21727085	Missense_Mutation	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	10265820	21727085	112124810	77	6417											
HOXC4	3221	broad.mit.edu	37	chr12	54448820	54448820	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttccaaaaccgtcgcaTgaaatggaagaaggaccacc	14	6	10	11	2	0	2	0	1	0	1	2	4	1	4	4	3	1	2	4	3	5	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:54448820T>A	ENST00000430889.2	+	2	672	c.626T>A	c.(625-627)aTg>aAg	p.M209K	HOXC4_ENST00000303406.4_Missense_Mutation_p.M209K	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	209						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						AACCGTCGCATGAAATGGAAG	0.592													5	41					0	0	0	0	A	54448820	T	A	54448820	3	1	33	1	0	0	0	0	1	0	0	0	7363	1464	51	5	632	5	HOXC4	12	54448820	Missense_Mutation	SNP	T	TCGA-BA-A6DI-01A-11D-A30E-08	32721735	54448820	79403075	78	6418											
NFE2	4778	broad.mit.edu	37	chr12	54686719	54686719	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagttggagtgggccaaggaGttgggcatgagtgagtaggg	9	9	20	3	0	0	2	0	2	0	0	0	4	0	4	1	5	0	4	1	5	3	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:54686719G>A	ENST00000540264.2	-	2	1070	c.561C>T	c.(559-561)aaC>aaT	p.N187N	NFE2_ENST00000553070.1_Silent_p.N187N|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Silent_p.N187N|NFE2_ENST00000312156.4_Silent_p.N187N			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	187	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGGCCAAGGAGTTGGGCATGA	0.607													20	117					0	0	0	0	A	54686719	G	A	54686719	2	1	33	1	0	0	0	0	0	0	0	1	10436	1020	36	4		4	NFE2	12	54686719	Silent	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	237899	54686719	79165176	79	6419											
HELB	92797	broad.mit.edu	37	chr12	66703543	66703543	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagttggatagcattttgtCagtgtgagtctcttctccag	8	15	10	8	0	3	1	1	1	2	0	5	2	3	2	1	1	1	2	1	1	2	5			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:66703543C>T	ENST00000247815.4	+	4	894	c.835C>T	c.(835-837)Cag>Tag	p.Q279*		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	279					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGCATTTTGTCAGTGTGAGTC	0.383													35	142					0	0	0	0	T	66703543	C	T	66703543	4	4	33	1	0	0	0	0	0	1	0	0	7095	827	29	2	849	2	HELB	12	66703543	Nonsense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	12016824	66703543	67148352	80	6420											
TPH2	121278	broad.mit.edu	37	chr12	72335422	72335422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaagggaagcagcaaacGtgaagctgctaccgaaagtg	16	4	12	9	2	0	1	0	1	0	0	0	3	0	2	1	1	7	4	1	1	7	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:72335422G>T	ENST00000333850.3	+	2	305	c.164G>T	c.(163-165)cGt>cTt	p.R55L	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	55			R -> C (the property of the variant is indistinguishable from the wild-type).		aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AGCAGCAAACGTGAAGCTGCT	0.408													14	89					3.27435e-08	3.58409e-08	1	0	T	72335422	G	T	72335422	3	4	33	1	0	0	0	0	1	0	0	0	16497	1145	40	3	170	3	TPH2	12	72335422	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	5631879	72335422	61516473	81	6421											
LRRIQ1	84125	broad.mit.edu	37	chr12	85517969	85517969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taactatcaccaagaaagatGaatcagaagcccagaaaaat	21	6	6	8	0	2	5	2	1	0	4	2	5	2	5	2	0	2	0	2	0	8	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:85517969G>A	ENST00000393217.2	+	17	3740	c.3679G>A	c.(3679-3681)Gaa>Aaa	p.E1227K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1227										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CAAGAAAGATGAATCAGAAGC	0.418													18	73					0	0	0	0	A	85517969	G	A	85517969	3	1	33	1	0	0	0	0	1	0	0	0	9093	1291	45	2	3741	2	LRRIQ1	12	85517969	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	13182547	85517969	48333926	82	6422											
SLC5A8	160728	broad.mit.edu	37	chr12	101584334	101584334	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtccatgtgaaggtccCtcctataataattgtccaga	10	12	9	10	0	0	2	0	1	0	1	4	2	4	2	4	2	0	1	4	2	4	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:101584334C>G	ENST00000536262.2	-	6	1303	c.745G>C	c.(745-747)Ggg>Cgg	p.G249R		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	249					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGAAGGTCCCTCCTATAATA	0.393													6	89					0	0	0	0	G	101584334	C	G	101584334	3	3	33	1	0	0	0	0	1	0	0	0	14759	681	24	4	1127	4	SLC5A8	12	101584334	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	16066365	101584334	32267561	83	6423											
NCOR2	9612	broad.mit.edu	37	chr12	124856695	124856695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcccgccctccttcttctCtgccttgagcgccccctcgg	1	11	8	21	3	2	1	0	1	2	0	6	1	4	1	6	1	2	1	6	1	0	3			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:124856695C>T	ENST00000356219.3	-	21	2835	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	NCOR2_ENST00000397355.1_Missense_Mutation_p.E877K|NCOR2_ENST00000404121.2_Missense_Mutation_p.E447K|NCOR2_ENST00000429285.2_Missense_Mutation_p.E876K|NCOR2_ENST00000404621.1_Missense_Mutation_p.E876K|NCOR2_ENST00000405201.1_Missense_Mutation_p.E894K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	894					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCTTCTTCTCTGCCTTGAGC	0.711													28	105					0	0	0	0	T	124856695	C	T	124856695	3	4	33	1	0	0	0	0	1	0	0	0	10306	922	32	2	5000	2	NCOR2	12	124856695	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	23272361	124856695	8995200	84	6424											
LRFN5	145581	broad.mit.edu	37	chr14	42357125	42357125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacatcatcaacggcactaCttaaatttaattttcaaaga	16	13	3	9	1	3	1	3	0	0	1	3	1	3	1	0	1	3	1	0	1	7	7			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr14:42357125C>A	ENST00000554171.1	+	5	3729	c.1297C>A	c.(1297-1299)Ctt>Att	p.L433I	LRFN5_ENST00000554120.1_Missense_Mutation_p.L433I|LRFN5_ENST00000298119.4_Missense_Mutation_p.L433I			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	433	Fibronectin type-III.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACGGCACTACTTAAATTTAA	0.338										HNSCC(30;0.082)			17	36					3.41278e-10	3.83938e-10	1	0	A	42357125	C	A	42357125	3	1	33	1	0	0	0	0	1	0	0	0	9005	565	20	4	1299	4	LRFN5	14	42357125	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08		42357125	64992415	85	6425											
DACT1	51339	broad.mit.edu	37	chr14	59112831	59112831	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcagaggccctgccccgcCgcaggagaacaaagttgtac	11	5	12	13	2	0	2	0	0	0	2	0	3	0	2	4	2	4	4	4	2	4	3			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr14:59112831C>A	ENST00000395153.3	+	4	1526	c.1379C>A	c.(1378-1380)cCg>cAg	p.P460Q	DACT1_ENST00000556859.1_Missense_Mutation_p.P216Q|DACT1_ENST00000395151.3_Missense_Mutation_p.P216Q|DACT1_ENST00000541264.2_Missense_Mutation_p.P216Q|DACT1_ENST00000335867.4_Missense_Mutation_p.P497Q	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	497					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCTGCCCCGCCGCAGGAGAAC	0.602													59	166					9.53615e-21	1.14434e-20	1	0	A	59112831	C	A	59112831	3	1	33	1	0	0	0	0	1	0	0	0	4255	652	23	3	1504	3	DACT1	14	59112831	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	16755706	59112831	48236709	86	6426											
HEXA	3073	broad.mit.edu	37	chr15	72668115	72668115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagcaggtcacgatagcGctggaaggcctcgtcgagga	12	5	15	9	4	1	0	1	0	0	0	3	5	1	2	1	4	2	2	1	4	4	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr15:72668115G>A	ENST00000268097.5	-	1	702	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000566304.1_Missense_Mutation_p.R67C|HEXA_ENST00000567159.1_Missense_Mutation_p.R67C|HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000457859.2_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	67					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TCACGATAGCGCTGGAAGGCC	0.617													45	248					0	0	0	0	A	72668115	G	A	72668115	3	1	33	1	0	0	0	0	1	0	0	0	7123	1087	38	1	1446	1	HEXA	15	72668115	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08		72668115	29863277	87	6427											
ACSBG1	23205	broad.mit.edu	37	chr15	78471001	78471001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagccatcggcgtccaggcGgccagcatcacccgtgtgca	8	5	13	15	4	1	0	1	0	0	0	3	1	2	0	4	3	3	2	4	3	1	0			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr15:78471001G>A	ENST00000258873.4	-	11	1862	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C	ACSBG1_ENST00000560817.1_Missense_Mutation_p.R311C|ACSBG1_ENST00000541759.1_Missense_Mutation_p.R311C	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	553					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCGTCCAGGCGGCCAGCATCA	0.617													8	20					0	0	0	0	A	78471001	G	A	78471001	3	1	33	1	0	0	0	0	1	0	0	0	173	1116	39	1	533	1	ACSBG1	15	78471001	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	5802886	78471001	24060391	88	6428											
PRSS53	339105	broad.mit.edu	37	chr16	31098884	31098884	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagcagtgggcagcagtgagGacccaggtgtctgccaccag	10	5	15	11	0	1	1	0	1	1	0	1	2	1	2	3	3	3	3	3	3	1	0			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:31098884G>A	ENST00000280606.6	-	3	369	c.216C>T	c.(214-216)gtC>gtT	p.V72V	RP11-196G11.1_ENST00000529564.1_Silent_p.V147V	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	72	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CAGCAGTGAGGACCCAGGTGT	0.622													5	22					0	0	0	0	A	31098884	G	A	31098884	2	1	33	1	0	0	0	0	0	0	0	1	12711	1161	41	2		2	PRSS53	16	31098884	Silent	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08		31098884	59255869	89	6429											
ZNF319	57567	broad.mit.edu	37	chr16	58031223	58031223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttctggcactcgccgcagCggaagggccgctccccactt	5	7	11	18	4	1	0	0	0	1	0	3	1	2	1	5	3	1	3	5	3	1	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:58031223C>T	ENST00000299237.2	-	2	1569	c.947G>A	c.(946-948)cGc>cAc	p.R316H		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CTCGCCGCAGCGGAAGGGCCG	0.672													5	33					0	0	0	0	T	58031223	C	T	58031223	3	4	33	1	0	0	0	0	1	0	0	0	17932	768	27	1	805	1	ZNF319	16	58031223	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	26932339	58031223	32323530	90	6430											
CMIP	80790	broad.mit.edu	37	chr16	81735383	81735383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacgagcagctgtgtgaccGgcagcgggagctgaaggagc	9	5	18	9	3	0	2	0	2	0	0	0	5	0	4	1	3	6	5	1	3	2	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:81735383G>A	ENST00000537098.3	+	16	1946	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	CMIP_ENST00000398040.4_Missense_Mutation_p.R472Q|CMIP_ENST00000539778.2_Missense_Mutation_p.R531Q|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	591						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CTGTGTGACCGGCAGCGGGAG	0.637													5	228					0	0	0	0	A	81735383	G	A	81735383	3	1	33	1	0	0	0	0	1	0	0	0	3608	1116	39	1	1958	1	CMIP	16	81735383	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	23704160	81735383	8619370	91	6431											
CTU2	348180	broad.mit.edu	37	chr16	88780174	88780174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgtcttcacaccagcCgtcgacaccaaggtgggcct	7	9	9	16	2	3	0	1	0	2	0	4	1	3	0	5	2	1	0	5	2	1	2	rs140136452		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:88780174C>T	ENST00000567949.1	+	9	1215	c.1206C>T	c.(1204-1206)gcC>gcT	p.A402A	CTU2_ENST00000453996.2_Silent_p.A331A|CTU2_ENST00000312060.5_Silent_p.A331A|CTU2_ENST00000378384.3_Silent_p.A244A			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	331					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						TCACACCAGCCGTCGACACCA	0.637													6	227					0	0	0	0	T	88780174	C	T	88780174	2	4	33	1	0	0	0	0	0	0	0	1	4080	639	23	1		1	CTU2	16	88780174	Silent	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	7044791	88780174	1574579	92	6432											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	7	6	13	15	3	2	0	2	0	0	0	4	0	3	0	3	3	4	3	3	3	1	0			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:7578403C>T	ENST00000420246.2	-	5	659	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	74					0	0	0	0	T	7578403	C	T	7578403	3	4	33	1	0	0	0	0	1	0	0	0	16476	710	25	4	771	4	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08		7578403	73616807	93	6433											
TP53	7157	broad.mit.edu	37	chr17	7579546	7579547	+	Frame_Shift_Ins	INS	-	-	G																															accattgttcaatatcgtccINSggggacagcatcaaatcatc																										TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:7579546_7579547insG	ENST00000420246.2	-	4	272_273	c.140_141insC	c.(139-141)cgafs	p.R47fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.R47fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.R47fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.R47fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.R47fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.R47fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	47	Interaction with HRMT1L2.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in dbSNP:rs1800371).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P47fs*76(5)|p.P47P(2)|p.P47fs*4(2)|p.P47L(2)|p.D48fs*55(1)|p.P13fs*18(1)|p.S46_D49delSPDD(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAATATCGTCCGGGGACAGCAT	0.594		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			66	450	---	---	---	---					G	7579547	-	G	7579546	7	5	33	1	0	1	1	0	0	0	0	0	16476	639	23	0	1161	0	TP53	17	7579546	Frame_Shift_Ins	INS	-	TCGA-BA-A6DI-01A-11D-A30E-08	1143	7579546	73615664	94	6434											
EPN2	22905	broad.mit.edu	37	chr17	19213237	19213237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccgagctggagcaagcccGgccccagactagtggagaag	10	4	14	13	2	0	2	0	0	0	2	1	5	1	3	4	3	3	2	4	3	3	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:19213237G>A	ENST00000314728.5	+	5	1290	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	EPN2_ENST00000571254.1_Missense_Mutation_p.R212Q|EPN2_ENST00000575595.1_5'UTR|EPN2_ENST00000395626.1_Missense_Mutation_p.R269Q|EPN2_ENST00000395618.3_5'UTR|EPN2_ENST00000347697.2_Missense_Mutation_p.R212Q|EPN2_ENST00000395620.2_Missense_Mutation_p.R212Q	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	269					endocytosis		lipid binding	p.R269P(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GAGCAAGCCCGGCCCCAGACT	0.597													4	137					0	0	0	0	A	19213237	G	A	19213237	3	1	33	1	0	0	0	0	1	0	0	0	5224	1116	39	1	816	1	EPN2	17	19213237	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	11633691	19213237	61981973	95	6435											
SLC6A4	6532	broad.mit.edu	37	chr17	28548857	28548857	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacccattggatatttgcccGgactccactttgtcccctgg	6	13	8	14	1	0	0	0	0	0	0	2	2	2	2	5	3	2	0	5	3	2	5	rs145558656		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:28548857G>A	ENST00000401766.2	-	2	632	c.120C>T	c.(118-120)tcC>tcT	p.S40S	SLC6A4_ENST00000261707.3_Silent_p.S40S			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	40					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATATTTGCCCGGACTCCACTT	0.537													4	203					0	0	0	0	A	28548857	G	A	28548857	2	1	33	1	0	0	0	0	0	0	0	1	14774	1103	39	1		1	SLC6A4	17	28548857	Silent	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	9335620	28548857	52646353	96	6436											
WFIKKN2	124857	broad.mit.edu	37	chr17	48918253	48918253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcatgggggaggtggacgGcggcatggccatgctgcgcc	6	6	18	11	3	1	0	1	0	0	0	1	2	1	2	2	7	2	2	2	7	0	0			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:48918253G>A	ENST00000311378.4	+	2	2132	c.1604G>A	c.(1603-1605)gGc>gAc	p.G535D	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.G442D|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	535	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GAGGTGGACGGCGGCATGGCC	0.632													15	45					0	0	0	0	A	48918253	G	A	48918253	3	1	33	1	0	0	0	0	1	0	0	0	17455	1203	42	4	1610	4	WFIKKN2	17	48918253	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	20369396	48918253	32276957	97	6437											
SDK2	54549	broad.mit.edu	37	chr17	71427676	71427676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgaggcctcatcgaccCcccgagagttggtggccagg	6	7	14	14	2	1	2	1	1	0	1	2	4	1	2	5	4	1	2	5	4	0	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:71427676C>T	ENST00000392650.3	-	11	1445	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E	SDK2_ENST00000388726.3_Missense_Mutation_p.G482E	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	482	Ig-like C2-type 5.				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						CTCATCGACCCCCCGAGAGTT	0.602													35	263					0	0	0	0	T	71427676	C	T	71427676	3	4	33	1	0	0	0	0	1	0	0	0	14056	623	22	4	5213	4	SDK2	17	71427676	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	22509423	71427676	9767534	98	6438											
ITGB4	3691	broad.mit.edu	37	chr17	73720804	73720804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggcagggccacgccccagCccatgggccaggctgctcct	6	5	13	17	1	0	0	0	0	0	0	1	0	1	0	6	4	2	3	6	4	0	0			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:73720804C>G	ENST00000200181.3	+	2	208	c.21C>G	c.(19-21)agC>agG	p.S7R	ITGB4_ENST00000579662.1_Missense_Mutation_p.S7R|ITGB4_ENST00000450894.3_Missense_Mutation_p.S7R|ITGB4_ENST00000449880.2_Missense_Mutation_p.S7R|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.S7R	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	7					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACGCCCCAGCCCATGGGCCA	0.632													14	75					0	0	0	0	G	73720804	C	G	73720804	3	3	33	1	0	0	0	0	1	0	0	0	7950	738	26	4	23	4	ITGB4	17	73720804	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	2293128	73720804	7474406	99	6439											
USP36	57602	broad.mit.edu	37	chr17	76803592	76803592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtttgggggaaggggaccCcgagggcagctttggaggaa	9	6	20	6	1	0	0	0	0	0	0	0	6	0	4	2	7	1	3	2	7	2	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:76803592C>A	ENST00000312010.6	-	14	1858	c.1534G>T	c.(1534-1536)Ggg>Tgg	p.G512W	USP36_ENST00000449938.2_Missense_Mutation_p.G212W|USP36_ENST00000542802.2_Missense_Mutation_p.G512W	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	512					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GAAGGGGACCCCGAGGGCAGC	0.587													11	57					4.68919e-08	5.09831e-08	1	0	A	76803592	C	A	76803592	3	1	33	1	0	0	0	0	1	0	0	0	17163	623	22	4	1865	4	USP36	17	76803592	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	3082788	76803592	4391618	100	6440											
LAMA3	3909	broad.mit.edu	37	chr18	21364064	21364064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgtgccgccctggggttGagggccctcgatgtgatacc	4	9	15	13	2	0	2	0	2	0	0	1	3	0	2	5	3	2	1	5	3	1	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr18:21364064G>C	ENST00000313654.9	+	12	1787	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.E516Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	516	Domain V.|Laminin EGF-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCTGGGGTTGAGGGCCCTCG	0.507													24	138					0	0	0	0	C	21364064	G	C	21364064	3	2	33	1	0	0	0	0	1	0	0	0	8660	1291	45	2	1592	2	LAMA3	18	21364064	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08		21364064	56713184	101	6441											
CNDP1	84735	broad.mit.edu	37	chr18	72229309	72229309	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatggacgaggagcgaccgAcaacaaaggccctgtcttgg	11	7	13	10	3	1	0	0	0	1	0	1	5	1	2	2	4	2	0	2	4	3	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr18:72229309A>G	ENST00000582365.1	+	4	431	c.365A>G	c.(364-366)gAc>gGc	p.D122G	CNDP1_ENST00000585136.1_3'UTR|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000358821.3_Missense_Mutation_p.D165G			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	165					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGAGCGACCGACAACAAAGGC	0.507													8	45					0	0	0	0	G	72229309	A	G	72229309	3	3	33	1	0	0	0	0	1	0	0	0	3623	275	10	5	512	5	CNDP1	18	72229309	Missense_Mutation	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	50865245	72229309	5847939	102	6442											
ARMC6	93436	broad.mit.edu	37	chr19	19153677	19153677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaggccgtggagcagtttGaatcgcaaggtagggtggtg	10	8	18	5	2	0	2	0	1	0	1	1	3	0	3	1	5	1	4	1	5	4	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:19153677G>A	ENST00000535612.1	+	3	619	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	ARMC6_ENST00000392336.3_Missense_Mutation_p.E63K|ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000392335.2_Missense_Mutation_p.E38K|ARMC6_ENST00000269932.6_Missense_Mutation_p.E38K	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	63							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGAGCAGTTTGAATCGCAAGG	0.602													10	102					0	0	0	0	A	19153677	G	A	19153677	3	1	33	1	0	0	0	0	1	0	0	0	959	1291	45	2	114	2	ARMC6	19	19153677	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08		19153677	39975306	103	6443											
ZNF93	81931	broad.mit.edu	37	chr19	20044958	20044958	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actggagagaagccctacaaAtgtgaagaatgtggcaaagc	16	6	12	7	0	0	3	0	1	0	2	0	5	0	4	1	2	3	1	1	2	6	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:20044958A>T	ENST00000343769.5	+	4	1222	c.1194A>T	c.(1192-1194)aaA>aaT	p.K398N	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	398						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AGCCCTACAAATGTGAAGAAT	0.403													14	81					0	0	0	0	T	20044958	A	T	20044958	3	4	33	1	0	0	0	0	1	0	0	0	18295	98	4	5	1208	5	ZNF93	19	20044958	Missense_Mutation	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	891281	20044958	39084025	104	6444											
ZNF569	148266	broad.mit.edu	37	chr19	37903577	37903577	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacactcaatacagtgataGggcttctcacctgtatgttt	10	13	7	11	0	2	1	2	1	1	0	3	1	2	1	2	1	1	3	2	1	4	5			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:37903577G>A	ENST00000316950.6	-	6	2540	c.1983C>T	c.(1981-1983)ccC>ccT	p.P661P	ZNF569_ENST00000392149.2_Silent_p.P661P|ZNF569_ENST00000392150.2_Silent_p.P502P	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACAGTGATAGGGCTTCTCAC	0.403													11	155					0	0	0	0	A	37903577	G	A	37903577	2	1	33	1	0	0	0	0	0	0	0	1	18095	987	35	4		4	ZNF569	19	37903577	Silent	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	17858619	37903577	21225406	105	6445											
FCGBP	8857	broad.mit.edu	37	chr19	40398375	40398375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtacgccgccggcacgcGcaggcgcacgaagctgtccc	6	3	14	18	9	0	0	0	0	0	0	1	1	1	0	3	2	2	5	3	2	2	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:40398375G>A	ENST00000221347.6	-	14	6599	c.6592C>T	c.(6592-6594)Cgc>Tgc	p.R2198C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2198	VWFD 5.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCGGCACGCGCAGGCGCACG	0.697													4	74					0	0	0	0	A	40398375	G	A	40398375	3	1	33	1	0	0	0	0	1	0	0	0	5823	1087	38	1	9717	1	FCGBP	19	40398375	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	2494798	40398375	18730608	106	6446											
LILRB2	10288	broad.mit.edu	37	chr19	54783717	54783717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtaatactgacagccatatCgccctgtgtgttcccaggtg	8	12	10	11	1	0	1	0	1	0	0	2	1	1	1	3	1	2	2	3	1	3	4	rs145209585	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:54783717C>T	ENST00000391748.1	-	4	411	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000391746.1_Missense_Mutation_p.R95Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.R95Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.R95Q|LILRB2_ENST00000434421.1_5'UTR	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	95	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGCCATATCGCCCTGTGTG	0.557													15	166					0	0	0	0	T	54783717	C	T	54783717	3	4	33	1	0	0	0	0	1	0	0	0	8845	884	31	1	1556	1	LILRB2	19	54783717	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	14385342	54783717	4345266	107	6447											
DEFB119	245932	broad.mit.edu	37	chr20	29965130	29965130	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttatcctcatgtaggaCtggaggcagcaggactgaca	11	9	12	9	0	1	1	1	1	0	0	2	4	2	4	1	4	2	4	1	4	2	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr20:29965130C>T	ENST00000376321.3	-	2	293	c.174G>A	c.(172-174)caG>caA	p.Q58Q	DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR	NM_153289.2	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	58					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCATGTAGGACTGGAGGCAGC	0.468													25	127					0	0	0	0	T	29965130	C	T	29965130	2	4	33	1	0	0	0	0	0	0	0	1	4443	564	20	4		4	DEFB119	20	29965130	Silent	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08		29965130	33060390	108	6448											
FAM65C	140876	broad.mit.edu	37	chr20	49209009	49209009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcagaggctggagctGgcccagccgcttcccctgca	5	6	15	15	1	0	1	0	0	0	1	1	2	1	2	4	5	3	5	4	5	0	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr20:49209009G>T	ENST00000327979.2	-	19	2848	c.2437C>A	c.(2437-2439)Cag>Aag	p.Q813K	FAM65C_ENST00000045083.2_Missense_Mutation_p.Q813K|FAM65C_ENST00000535356.1_Missense_Mutation_p.Q817K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	813										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCTGGAGCTGGCCCAGCCGC	0.672													9	35					0.000673444	0.000703858	1	0	T	49209009	G	T	49209009	3	4	33	1	0	0	0	0	1	0	0	0	5647	1357	47	4	419	4	FAM65C	20	49209009	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	19243879	49209009	13816511	109	6449											
LIME1	54923	broad.mit.edu	37	chr20	62369957	62369957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgtctccaggtggacGtcctgtactccagggtctgc	4	12	11	14	1	2	0	0	0	2	0	6	1	5	1	4	3	2	1	4	3	1	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr20:62369957G>A	ENST00000309546.3	+	6	679	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	LIME1_ENST00000490824.1_3'UTR|ZGPAT_ENST00000490623.1_3'UTR	NM_017806.2	NP_060276.2			Lck interacting transmembrane adaptor 1											kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCAGGTGGACGTCCTGTACTC	0.672													7	38					0	0	0	0	A	62369957	G	A	62369957	3	1	33	1	0	0	0	0	1	0	0	0	8854	1145	40	1	610	1	LIME1	20	62369957	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	13160948	62369957	655563	110	6450											
NDUFV3	4731	broad.mit.edu	37	chr21	44324335	44324335	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcttgaggccgagggcGaggccatggaagatgcagcc	10	5	17	9	2	0	3	0	2	0	1	0	6	0	4	3	4	3	2	3	4	2	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr21:44324335G>T	ENST00000354250.2	+	3	1282	c.1213G>T	c.(1213-1215)Gag>Tag	p.E405*	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	40					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	GGCCGAGGGCGAGGCCATGGA	0.572													7	23					0.00198382	0.002047	1	0	T	44324335	G	T	44324335	4	4	33	1	0	0	0	0	0	1	0	0	10371	1059	37	3	1223	3	NDUFV3	21	44324335	Nonsense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08		44324335	3805560	111	6451											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978218	45978218	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagccccagagcagacGggcacacagcagatgggctt	12	3	15	11	1	0	3	0	0	0	3	0	5	0	4	2	3	3	4	2	3	1	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr21:45978218G>A	ENST00000391620.1	-	1	425	c.381C>T	c.(379-381)ccC>ccT	p.P127P	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	127	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CAGAgcagacgggcacacagc	0.657													5	457					0	0	0	0	A	45978218	G	A	45978218	2	1	33	1	0	0	0	0	0	0	0	1	8562	1103	39	1		1	KRTAP10-3	21	45978218	Silent	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08	1653883	45978218	2151677	112	6452			1	9		2	2	15	N	T_G	5.426785e-05
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978232	45978232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacgggcacacagcagaTgggcttgcagcagacaggct	11	4	15	11	1	0	3	0	0	0	3	0	3	0	3	0	3	3	7	0	3	0	1			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr21:45978232T>C	ENST00000391620.1	-	1	411	c.367A>G	c.(367-369)Atc>Gtc	p.I123V	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	123	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						acacagcagatgggcttgcag	0.652													5	457					0	0	0	0	C	45978232	T	C	45978232	3	2	33	1	0	0	0	0	1	0	0	0	8562	1464	51	5	302	5	KRTAP10-3	21	45978232	Missense_Mutation	SNP	T	TCGA-BA-A6DI-01A-11D-A30E-08	14	45978232	2151663	113	6453			1	9		2	2	15	N	T_G	5.426785e-05
GNAZ	2781	broad.mit.edu	37	chr22	23438130	23438130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccatcgactcgctgacccGcatcatccgggccctggccg	5	7	11	18	5	1	1	1	1	0	0	4	2	2	1	5	2	1	2	5	2	0	0			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr22:23438130G>T	ENST00000248996.4	+	2	914	c.248G>T	c.(247-249)cGc>cTc	p.R83L	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	83						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TCGCTGACCCGCATCATCCGG	0.622													66	334					6.2918e-36	7.7807e-36	1	0	T	23438130	G	T	23438130	3	4	33	1	0	0	0	0	1	0	0	0	6565	1087	38	3	250	3	GNAZ	22	23438130	Missense_Mutation	SNP	G	TCGA-BA-A6DI-01A-11D-A30E-08		23438130	27866436	114	6454											
GGT5	2687	broad.mit.edu	37	chr22	24616059	24616059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtctggttctggccaCggtcttggagtcccctctgc	2	13	13	13	1	5	0	0	0	5	0	6	1	6	1	3	5	1	1	3	5	0	2	rs141036787	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr22:24616059C>A	ENST00000327365.4	-	12	2056	c.1640G>T	c.(1639-1641)cGt>cTt	p.R547L	GGT5_ENST00000263112.7_Missense_Mutation_p.R515L|GGT5_ENST00000398292.3_Missense_Mutation_p.R548L|GGT5_ENST00000418439.2_Missense_Mutation_p.R471L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	547					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GTTCTGGCCACGGTCTTGGAG	0.627													5	57					0.014758	0.0149425	1	0	A	24616059	C	A	24616059	3	1	33	1	0	0	0	0	1	0	0	0	6413	536	19	3	124	3	GGT5	22	24616059	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	1177929	24616059	26688507	115	6455											
HSCB	150274	broad.mit.edu	37	chr22	29138288	29138288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcgctgcaggcacctgacCccactcgagactacttcagc	9	6	10	16	2	1	2	1	1	0	1	2	4	1	2	3	1	4	3	3	1	1	2			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr22:29138288C>T	ENST00000216027.3	+	1	270	c.205C>T	c.(205-207)Ccc>Tcc	p.P69S	HSCB_ENST00000398941.2_Missense_Mutation_p.P69S|CHEK2_ENST00000544772.1_5'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	69					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						GGCACCTGACCCCACTCGAGA	0.652													7	51					0	0	0	0	T	29138288	C	T	29138288	3	4	33	1	0	0	0	0	1	0	0	0	7424	623	22	4	207	4	HSCB	22	29138288	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	4522229	29138288	22166278	116	6456											
EIF2S3	1968	broad.mit.edu	37	chrX	24091373	24091373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagccgaagagttgaaaaaCactggcggtaagtttgttag	13	11	12	5	2	0	2	0	1	0	1	0	3	0	2	1	2	2	4	1	2	6	5			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chrX:24091373C>T	ENST00000253039.4	+	11	1601	c.1348C>T	c.(1348-1350)Cac>Tac	p.H450Y	EIF2S3_ENST00000460032.1_3'UTR	NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	450						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						AGTTGAAAAACACTGGCGGTA	0.398													22	48					0	0	0	0	T	24091373	C	T	24091373	3	4	33	1	0	0	0	0	1	0	0	0	5047	478	17	4	1390	4	EIF2S3	23	24091373	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08		24091373	131179187	117	6457											
TSPYL2	64061	broad.mit.edu	37	chrX	53114820	53114820	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttccttacagtaaaaccAggggcagatgtgaggtggtg	10	9	14	8	0	0	2	0	1	0	1	1	2	1	2	3	4	2	2	3	4	3	3			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chrX:53114820A>T	ENST00000375442.4	+	6	1378	c.1246A>T	c.(1246-1248)Agg>Tgg	p.R416W		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	416					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						CAGTAAAACCAGGGGCAGATG	0.488													18	39					0	0	0	0	T	53114820	A	T	53114820	3	4	33	1	0	0	0	0	1	0	0	0	16755	179	7	5	1268	5	TSPYL2	23	53114820	Missense_Mutation	SNP	A	TCGA-BA-A6DI-01A-11D-A30E-08	29023447	53114820	102155740	118	6458											
KDM5C	8242	broad.mit.edu	37	chrX	53246350	53246350	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagtctcttggcccgcCggccatagctgttgaacttg	5	11	12	13	2	1	1	0	1	1	0	2	1	1	1	3	2	3	4	3	2	2	4			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chrX:53246350C>G	ENST00000452825.3	-	3	963	c.431G>C	c.(430-432)cGg>cCg	p.R144P	KDM5C_ENST00000404049.3_Missense_Mutation_p.R210P|KDM5C_ENST00000375379.3_Missense_Mutation_p.R211P|KDM5C_ENST00000375383.3_Missense_Mutation_p.R170P|KDM5C_ENST00000375401.3_Missense_Mutation_p.R211P	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	211	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTTGGCCCGCCGGCCATAGCT	0.532			"N, F, S"		clear cell renal carcinoma								9	8					0	0	0	0	G	53246350	C	G	53246350	3	3	33	1	0	0	0	0	1	0	0	0	8187	652	23	3	4236	3	KDM5C	23	53246350	Missense_Mutation	SNP	C	TCGA-BA-A6DI-01A-11D-A30E-08	131530	53246350	102024210	119	6459											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-																															tgttcatccagactggcgttCtcctcctcctcctcgctctc																										TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591													8	111	---	---	---	---					-	54011407	CTC	-	54011405	7	5	33	1	0	1	0	1	0	0	0	0	11912	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-BA-A6DI-01A-11D-A30E-08	765055	54011405	101259155	120	6460											
AGTRAP	57085	broad.mit.edu	37	chr1	11807587	11807587	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggctcagcgggactccatCgacgccataagcatggtgag	9	7	14	11	3	1	1	1	1	0	0	3	3	2	2	2	3	2	2	2	3	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:11807587C>T	ENST00000376637.3	+	2	243	c.118C>T	c.(118-120)Cga>Tga	p.R40*	AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000452018.2_Nonsense_Mutation_p.R84*|AGTRAP_ENST00000400895.2_Nonsense_Mutation_p.R84*|AGTRAP_ENST00000376627.2_Nonsense_Mutation_p.R96*|AGTRAP_ENST00000376629.4_Silent_p.I51I|AGTRAP_ENST00000510878.1_Intron|AGTRAP_ENST00000314340.5_Silent_p.I51I	NM_001040195.1	NP_001035285.1	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	0						cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACTCCATCGACGCCATAA	0.637													51	126					0	0	0	0	T	11807587	C	T	11807587	4	4	34	1	0	0	0	0	0	1	0	0	403	876	31	1	264	1	AGTRAP	1	11807587	Nonsense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08		11807587	237443034	1	6461											
PLOD1	5351	broad.mit.edu	37	chr1	12017008	12017008	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtttgaaatgggccatgtGagagcgaggaacctggccta	12	8	14	7	1	0	2	0	2	0	1	0	5	0	3	3	3	2	1	3	3	4	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:12017008G>A	ENST00000196061.4	+	7	705	c.678G>A	c.(676-678)gtG>gtA	p.V226V	PLOD1_ENST00000376369.3_Silent_p.V273V|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	226					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGCCATGTGAGAGCGAGGA	0.622													38	86					0	0	0	0	A	12017008	G	A	12017008	2	1	34	1	0	0	0	0	0	0	0	1	12173	1277	45	2		2	PLOD1	1	12017008	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	209421	12017008	237233613	2	6462											
CROCC	9696	broad.mit.edu	37	chr1	17272769	17272769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggctgaggctggccgcGtggagctcgagctctccatg	5	8	16	12	3	1	1	0	1	1	0	3	3	1	2	2	4	3	5	2	4	0	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:17272769G>A	ENST00000375541.5	+	16	2221	c.2152G>A	c.(2152-2154)Gtg>Atg	p.V718M	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	718					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCTGGCCGCGTGGAGCTCGA	0.632													12	62					0	0	0	0	A	17272769	G	A	17272769	3	1	34	1	0	0	0	0	1	0	0	0	3923	1145	40	1	2214	1	CROCC	1	17272769	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	5255761	17272769	231977852	3	6463											
TMCO4	255104	broad.mit.edu	37	chr1	20009578	20009578	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcttgcaggcacaatcGgggcagcccagtgggttggg	6	8	18	9	1	1	0	0	0	1	0	2	0	1	0	1	6	2	4	1	6	1	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:20009578G>A	ENST00000294543.6	-	16	2101	c.1860C>T	c.(1858-1860)ccC>ccT	p.P620P	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Silent_p.P580P|TMCO4_ENST00000375127.1_Intron	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	620						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGGCACAATCGGGGCAGCCCA	0.652													4	162					0	0	0	0	A	20009578	G	A	20009578	2	1	34	1	0	0	0	0	0	0	0	1	16092	1103	39	1		1	TMCO4	1	20009578	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	2736809	20009578	229241043	4	6464											
C1QC	714	broad.mit.edu	37	chr1	22973835	22973835	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggatgccaggggtgccCggccccatgggcatccctgg	4	6	16	15	1	0	0	0	0	0	0	1	1	1	1	6	6	2	1	6	6	0	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:22973835C>A	ENST00000374639.3	+	3	415	c.297C>A	c.(295-297)ccC>ccA	p.P99P	C1QC_ENST00000374640.4_Silent_p.P99P|C1QC_ENST00000374637.1_Silent_p.P99P	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	99	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGGGTGCCCGGCCCCATGG	0.647													20	64					4.96729e-08	5.20383e-08	1	0	A	22973835	C	A	22973835	2	1	34	1	0	0	0	0	0	0	0	1	1976	639	23	3		3	C1QC	1	22973835	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	2964257	22973835	226276786	5	6465											
TRIM63	84676	broad.mit.edu	37	chr1	26387823	26387823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcccttctgcagcggcCgactgcagtggagaacagtc	8	7	13	13	2	1	1	0	0	1	1	2	4	1	1	2	2	5	2	2	2	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:26387823C>T	ENST00000374272.3	-	3	473	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	112	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGCGGCCGACTGCAGTG	0.592													19	34					0	0	0	0	T	26387823	C	T	26387823	3	4	34	1	0	0	0	0	1	0	0	0	16633	652	23	1	754	1	TRIM63	1	26387823	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	3413988	26387823	222862798	6	6466											
ZNF683	257101	broad.mit.edu	37	chr1	26688651	26688651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttccagtgatttcttcCtggaacccacggtatctagc	7	14	8	12	1	2	1	0	1	2	0	4	2	4	2	3	2	2	2	3	2	3	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:26688651C>T	ENST00000436292.1	-	6	1279	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	ZNF683_ENST00000374204.1_Intron|ZNF683_ENST00000349618.3_Intron|ZNF683_ENST00000403843.1_Missense_Mutation_p.G387R			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TGATTTCTTCCTGGAACCCAC	0.502													5	19					0	0	0	0	T	26688651	C	T	26688651	3	4	34	1	0	0	0	0	1	0	0	0	18185	696	24	4		4	ZNF683	1	26688651	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	300828	26688651	222561970	7	6467											
MECR	51102	broad.mit.edu	37	chr1	29533365	29533365	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgaagagggatgtcactCggaacttggatcagtgcttc	9	11	12	9	1	3	2	2	1	1	1	5	5	3	5	0	3	2	1	0	3	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:29533365C>T	ENST00000373791.3	-	4	603	c.231G>A	c.(229-231)ccG>ccA	p.P77P	MECR_ENST00000263702.6_Silent_p.P153P|MECR_ENST00000489248.1_5'UTR	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	153					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GGATGTCACTCGGAACTTGGA	0.567													4	97					0	0	0	0	T	29533365	C	T	29533365	2	4	34	1	0	0	0	0	0	0	0	1	9493	871	31	1		1	MECR	1	29533365	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	2844714	29533365	219717256	8	6468											
BSDC1	55108	broad.mit.edu	37	chr1	32843848	32843848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggactttatagaaataccGatgccagaattctgaatggg	14	11	10	6	1	1	3	0	1	1	2	1	5	1	4	2	2	2	0	2	2	6	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:32843848G>A	ENST00000341071.7	-	7	627	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	BSDC1_ENST00000449308.1_Missense_Mutation_p.R189W|BSDC1_ENST00000446293.2_Missense_Mutation_p.R206W|BSDC1_ENST00000526031.1_Missense_Mutation_p.R94W|BSDC1_ENST00000419121.2_Missense_Mutation_p.R133W|BSDC1_ENST00000413080.1_Intron|BSDC1_ENST00000455895.2_Missense_Mutation_p.R189W			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	189							protein binding	p.R206W(1)		breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TAGAAATACCGATGCCAGAAT	0.522													15	61					0	0	0	0	A	32843848	G	A	32843848	3	1	34	1	0	0	0	0	1	0	0	0	1536	1057	37	1	747	1	BSDC1	1	32843848	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	3310483	32843848	216406773	9	6469											
C1orf94	84970	broad.mit.edu	37	chr1	34663145	34663145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagacattctgtgtgccGccgaggtcaagagcagcaag	11	7	12	11	2	3	2	2	0	1	2	3	3	3	2	2	1	3	2	2	1	2	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:34663145G>A	ENST00000488417.1	+	2	760	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	C1orf94_ENST00000373374.3_Missense_Mutation_p.A24T	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	24							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TCTGTGTGCCGCCGAGGTCAA	0.562													22	79					0	0	0	0	A	34663145	G	A	34663145	3	1	34	1	0	0	0	0	1	0	0	0	2091	1087	38	1	646	1	C1orf94	1	34663145	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1819297	34663145	214587476	10	6470											
MFSD2A	84879	broad.mit.edu	37	chr1	40434075	40434075	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccatggaaccgagcccatCttcttctccttctatgtctt	6	16	5	14	1	5	0	0	0	5	0	7	2	6	1	4	1	2	0	4	1	2	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:40434075C>T	ENST00000372809.5	+	12	1460	c.1317C>T	c.(1315-1317)atC>atT	p.I439I	MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Silent_p.I426I|MFSD2A_ENST00000420632.2_Silent_p.I270I	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	439					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCGAGCCCATCTTCTTCTCCT	0.552													20	50					0	0	0	0	T	40434075	C	T	40434075	2	4	34	1	0	0	0	0	0	0	0	1	9599	903	32	2		2	MFSD2A	1	40434075	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	5770930	40434075	208816546	11	6471											
ZCCHC11	23318	broad.mit.edu	37	chr1	52927235	52927235	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taacccacttcgcctgtgttCaaattttactataggcactt	10	15	5	11	1	1	0	1	0	0	0	2	0	1	0	2	1	2	2	2	1	5	8			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:52927235C>G	ENST00000371544.3	-	18	3443	c.3181G>C	c.(3181-3183)Gaa>Caa	p.E1061Q	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E1061Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1061					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CGCCTGTGTTCAAATTTTACT	0.279													18	21					0	0	0	0	G	52927235	C	G	52927235	3	3	34	1	0	0	0	0	1	0	0	0	17675	835	29	2	1808	2	ZCCHC11	1	52927235	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	12493160	52927235	196323386	12	6472											
ZYG11B	79699	broad.mit.edu	37	chr1	53287268	53287268	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccatgggaggccacctccCtgtaaaaaacagccccaagc	12	4	9	16	1	0	0	0	0	0	0	1	1	1	1	6	2	3	1	6	2	4	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:53287268C>T	ENST00000294353.6	+	14	2347	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	ZYG11B_ENST00000443756.2_Silent_p.P664P	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	734							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GGCCACCTCCCTGTAAAAAAC	0.423													16	49					0	0	0	0	T	53287268	C	T	53287268	2	4	34	1	0	0	0	0	0	0	0	1	18344	668	24	4		4	ZYG11B	1	53287268	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	360033	53287268	195963353	13	6473											
PCSK9	255738	broad.mit.edu	37	chr1	55509581	55509582	+	Frame_Shift_Del	DEL	AG	AG	-																															gagacccacctctcgcagtcAgagcgcactgcccgccgcct																										TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:55509581_55509582delAG	ENST00000302118.5	+	2	563_564	c.273_274delAG	c.(271-276)tcagfs	p.SE91fs	PCSK9_ENST00000452118.2_Frame_Shift_Del_p.SE91fs|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	91					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TCTCGCAGTCAGAGCGCACTGC	0.624													15	60	---	---	---	---					-	55509582	AG	-	55509581	7	5	34	1	0	1	0	1	0	0	0	0	11677	175	7	0	279	0	PCSK9	1	55509581	Frame_Shift_Del	DEL	AG	TCGA-BA-A6DJ-01A-11D-A30E-08	2222313	55509581	193741040	14	6474											
NEGR1	257194	broad.mit.edu	37	chr1	72241958	72241958	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgacggtcatatcatttgaGatgtcatatatcttaggagg	11	15	10	5	1	4	2	3	2	1	1	4	4	4	3	0	3	0	0	0	3	4	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:72241958G>C	ENST00000357731.4	-	3	671	c.432C>G	c.(430-432)atC>atG	p.I144M	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Missense_Mutation_p.I16M|NEGR1_ENST00000434200.1_Missense_Mutation_p.I142M	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	144	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TATCATTTGAGATGTCATATA	0.368													3	34					0	0	0	0	C	72241958	G	C	72241958	3	2	34	1	0	0	0	0	1	0	0	0	10387	932	33	2	652	2	NEGR1	1	72241958	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	16732377	72241958	177008663	15	6475											
CLCA2	9635	broad.mit.edu	37	chr1	86896618	86896618	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tataacaatgacaaacctttCtacataaatgggcaaaatca	19	10	4	8	0	2	1	1	1	1	0	2	1	2	1	1	1	3	1	1	1	9	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:86896618C>G	ENST00000370565.4	+	4	711	c.549C>G	c.(547-549)ttC>ttG	p.F183L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	183					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACAAACCTTTCTACATAAATG	0.353													33	79					0	0	0	0	G	86896618	C	G	86896618	3	3	34	1	0	0	0	0	1	0	0	0	3488	912	32	2	563	2	CLCA2	1	86896618	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	14654660	86896618	162354003	16	6476											
CCDC18	343099	broad.mit.edu	37	chr1	93648935	93648935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaatggaatctagttcatCagactactataataaagaca	19	10	6	6	0	3	3	2	0	1	3	3	4	3	4	0	1	1	1	0	1	8	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:93648935C>T	ENST00000343253.7	+	2	519	c.17C>T	c.(16-18)tCa>tTa	p.S6L	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.S6L|CCDC18_ENST00000557479.1_Missense_Mutation_p.S124L			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	6										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCTAGTTCATCAGACTACTAT	0.303													13	36					0	0	0	0	T	93648935	C	T	93648935	3	4	34	1	0	0	0	0	1	0	0	0	2820	838	29	2	377	2	CCDC18	1	93648935	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	6752317	93648935	155601686	17	6477											
BCAR3	8412	broad.mit.edu	37	chr1	94027950	94027950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaattcagtcttgcagatttCattcatttcttcatctggtt	9	19	5	8	0	7	1	4	0	3	1	7	1	7	1	0	1	1	2	0	1	1	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:94027950C>G	ENST00000370244.1	-	14	2614	c.2326G>C	c.(2326-2328)Gaa>Caa	p.E776Q	BCAR3_ENST00000370243.1_Missense_Mutation_p.E776Q|BCAR3_ENST00000260502.6_Missense_Mutation_p.E776Q|BCAR3_ENST00000370247.3_Missense_Mutation_p.E685Q|BCAR3_ENST00000539242.1_Missense_Mutation_p.E452Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	776	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TTGCAGATTTCATTCATTTCT	0.353													27	49					0	0	0	0	G	94027950	C	G	94027950	3	3	34	1	0	0	0	0	1	0	0	0	1353	835	29	2	155	2	BCAR3	1	94027950	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	379015	94027950	155222671	18	6478											
VCAM1	7412	broad.mit.edu	37	chr1	101194799	101194799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccagatagacagccctctGagcgggaaggtgaggagtga	12	5	15	9	1	1	5	0	3	1	2	1	7	1	7	2	3	2	0	2	3	2	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:101194799G>A	ENST00000294728.2	+	5	1166	c.1065G>A	c.(1063-1065)ctG>ctA	p.L355L	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370119.4_Silent_p.L293L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	355	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACAGCCCTCTGAGCGGGAAGG	0.522													27	106					0	0	0	0	A	101194799	G	A	101194799	2	1	34	1	0	0	0	0	0	0	0	1	17233	1277	45	2		2	VCAM1	1	101194799	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	7166849	101194799	148055822	19	6479											
DPH5	51611	broad.mit.edu	37	chr1	101467118	101467118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctgtccaaaaaacaataGaaactgtctctccaaactta	16	11	4	10	0	2	1	0	0	2	1	5	1	4	1	2	0	3	0	2	0	8	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:101467118G>A	ENST00000370109.3	-	5	507	c.395C>T	c.(394-396)tCt>tTt	p.S132F	DPH5_ENST00000488176.1_Missense_Mutation_p.S132F|DPH5_ENST00000342173.7_Missense_Mutation_p.S132F|DPH5_ENST00000370105.3_5'UTR	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	132					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		AAAAACAATAGAAACTGTCTC	0.303													7	25					0	0	0	0	A	101467118	G	A	101467118	3	1	34	1	0	0	0	0	1	0	0	0	4759	942	33	2	478	2	DPH5	1	101467118	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	272319	101467118	147783503	20	6480											
COL11A1	1301	broad.mit.edu	37	chr1	103544224	103544224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttacttacttcccgtcagCgatgttaacagttctgaaga	10	14	8	9	2	2	2	1	1	1	1	3	3	3	2	1	0	4	3	1	0	4	5	rs146954848		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:103544224C>T	ENST00000358392.2	-	3	795	c.478G>A	c.(478-480)Gct>Act	p.A160T	COL11A1_ENST00000370096.3_Missense_Mutation_p.A160T|COL11A1_ENST00000353414.4_Missense_Mutation_p.A160T|COL11A1_ENST00000512756.1_Missense_Mutation_p.A160T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	160	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCCCGTCAGCGATGTTAACA	0.368													15	52					0	0	0	0	T	103544224	C	T	103544224	3	4	34	1	0	0	0	0	1	0	0	0	3697	768	27	1	5359	1	COL11A1	1	103544224	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	2077106	103544224	145706397	21	6481											
CELSR2	1952	broad.mit.edu	37	chr1	109816662	109816662	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatttctcttctttaacttCctgcattaaccctgggccgt	7	16	6	12	1	2	1	0	0	2	1	4	1	3	1	3	1	3	1	3	1	2	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:109816662C>A	ENST00000271332.3	+	34	8824	c.8763C>A	c.(8761-8763)ttC>ttA	p.F2921L	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2921					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCTTTAACTTCCTGCATTAAC	0.542													6	218					0.00198382	0.00200406	1	0	A	109816662	C	A	109816662	3	1	34	1	0	0	0	0	1	0	0	0	3251	854	30	2	8897	2	CELSR2	1	109816662	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	6272438	109816662	139433959	22	6482											
BCAS2	10286	broad.mit.edu	37	chr1	115110828	115110828	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagatttcattttctagctGaacaatagtccgttcaatct	12	16	5	8	1	4	2	2	1	2	1	5	2	5	2	1	0	2	2	1	0	6	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:115110828G>A	ENST00000369541.3	-	7	648	c.601C>T	c.(601-603)Cag>Tag	p.Q201*	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	201					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-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)		TTTTCTAGCTGAACAATAGTC	0.368													39	107					0	0	0	0	A	115110828	G	A	115110828	4	1	34	1	0	0	0	0	0	1	0	0	1355	1299	45	2	80	2	BCAS2	1	115110828	Nonsense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	5294166	115110828	134139793	23	6483											
FLG	2312	broad.mit.edu	37	chr1	152287145	152287145	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaataccatcagaagaaactCagtgaagtcaattttcttgt	15	12	7	7	0	4	3	3	1	1	2	4	4	4	3	1	0	2	0	1	0	6	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:152287145C>G	ENST00000368799.1	-	3	252	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	73	EF-hand 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAAGAAACTCAGTGAAGTCA	0.403									Ichthyosis				19	61					0	0	0	0	G	152287145	C	G	152287145	3	3	34	1	0	0	0	0	1	0	0	0	5967	835	29	2	11972	2	FLG	1	152287145	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	37176317	152287145	96963476	24	6484											
ADAR	103	broad.mit.edu	37	chr1	154574693	154574693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaggaactttaagatcCtttgttcctgatcttggtag	8	16	8	9	0	1	2	0	1	1	1	4	3	4	3	3	2	1	2	3	2	3	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:154574693C>T	ENST00000368474.4	-	2	624	c.425G>A	c.(424-426)aGg>aAg	p.R142K	ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.R185K	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	142					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTTTAAGATCCTTTGTTCCTG	0.488													37	98					0	0	0	0	T	154574693	C	T	154574693	3	4	34	1	0	0	0	0	1	0	0	0	281	681	24	4	3311	4	ADAR	1	154574693	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	2287548	154574693	94675928	25	6485											
THBS3	7059	broad.mit.edu	37	chr1	155167839	155167839	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccccgagttacctggttGagcacaacccagtttgggtc	7	10	11	13	1	0	1	0	1	0	0	1	2	0	1	4	2	4	4	4	2	2	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:155167839G>T	ENST00000368378.3	-	18	2267	c.2247C>A	c.(2245-2247)ctC>ctA	p.L749L	RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000428962.2_3'UTR|THBS3_ENST00000541990.1_Silent_p.L278L|THBS3_ENST00000457183.2_Silent_p.L629L|THBS3_ENST00000541576.1_Silent_p.L146L|THBS3_ENST00000487250.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	749	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTACCTGGTTGAGCACAACCC	0.572													19	45					3.32936e-07	3.45138e-07	1	0	T	155167839	G	T	155167839	2	4	34	1	0	0	0	0	0	0	0	1	15949	1277	45	2		2	THBS3	1	155167839	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	593146	155167839	94082782	26	6486											
SCAMP3	10067	broad.mit.edu	37	chr1	155227141	155227141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatcctggacgaagaaaatGaagaagaaaacgaagaaatt	22	5	9	5	2	0	5	0	1	0	4	1	8	1	6	1	1	1	0	1	1	9	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:155227141G>A	ENST00000355379.3	-	6	914	c.636C>T	c.(634-636)ttC>ttT	p.F212F	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Silent_p.F238F	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	238					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGAAGAAAATGAAGAAGAAAA	0.473													8	28					0	0	0	0	A	155227141	G	A	155227141	2	1	34	1	0	0	0	0	0	0	0	1	13958	1281	45	2		2	SCAMP3	1	155227141	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	59302	155227141	94023480	27	6487											
IQGAP3	128239	broad.mit.edu	37	chr1	156520136	156520136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagcacagctccaggatccCctgtcacctggcagattgag	10	7	10	14	0	1	2	1	1	0	1	3	3	3	3	4	2	2	3	4	2	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:156520136C>T	ENST00000361170.2	-	16	1752	c.1742G>A	c.(1741-1743)gGg>gAg	p.G581E		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	581					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCAGGATCCCCTGTCACCTG	0.537													14	27					0	0	0	0	T	156520136	C	T	156520136	3	4	34	1	0	0	0	0	1	0	0	0	7869	623	22	4	3245	4	IQGAP3	1	156520136	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1292995	156520136	92730485	28	6488											
ISG20L2	81875	broad.mit.edu	37	chr1	156693183	156693183	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctaggtgctcttcccactcGacttcaaccaacttatatag	10	12	6	13	1	2	0	1	0	1	0	4	1	3	0	2	1	3	2	2	1	6	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:156693183G>C	ENST00000313146.6	-	3	1802	c.1020C>G	c.(1018-1020)gtC>gtG	p.V340V	ISG20L2_ENST00000368219.1_Silent_p.V340V|ISG20L2_ENST00000472824.1_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	340	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCCACTCGACTTCAACCA	0.557													65	184					0	0	0	0	C	156693183	G	C	156693183	2	2	34	1	0	0	0	0	0	0	0	1	7908	1045	37	3		3	ISG20L2	1	156693183	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	173047	156693183	92557438	29	6489											
SPTA1	6708	broad.mit.edu	37	chr1	158613167	158613167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctttggcatagtgttcatCagcaatgaggctctcagcaa	10	13	9	9	0	4	1	3	1	2	0	5	1	4	1	0	2	2	5	0	2	3	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:158613167C>T	ENST00000368148.3	-	31	4567	c.4387G>A	c.(4387-4389)Gat>Aat	p.D1463N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1463N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1463					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TAGTGTTCATCAGCAATGAGG	0.448													18	44					0	0	0	0	T	158613167	C	T	158613167	3	4	34	1	0	0	0	0	1	0	0	0	15206	826	29	2	2960	2	SPTA1	1	158613167	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1919984	158613167	90637454	30	6490											
OR6N2	81442	broad.mit.edu	37	chr1	158747097	158747097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtaagaaggtagcattcaGacgctcccaaggagtggaag	13	7	13	8	1	1	2	1	0	0	2	2	4	2	4	1	3	1	4	1	3	5	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:158747097G>A	ENST00000339258.1	-	1	328	c.329C>T	c.(328-330)tCt>tTt	p.S110F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GTAGCATTCAGACGCTCCCAA	0.463													22	93					0	0	0	0	A	158747097	G	A	158747097	3	1	34	1	0	0	0	0	1	0	0	0	11278	942	33	2	627	2	OR6N2	1	158747097	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	133930	158747097	90503524	31	6491											
ATP1A4	480	broad.mit.edu	37	chr1	160134055	160134055	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacctatcgctgctgagatCgaacacttcatccatctgat	11	11	6	13	2	2	2	1	2	1	1	5	4	3	2	2	0	2	2	2	0	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:160134055C>T	ENST00000368081.4	+	7	1359	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	296					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.I296I(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCTGAGATCGAACACTTCA	0.542													10	185					0	0	0	0	T	160134055	C	T	160134055	2	4	34	1	0	0	0	0	0	0	0	1	1135	874	31	1		1	ATP1A4	1	160134055	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1386958	160134055	89116566	32	6492											
CACNA1E	777	broad.mit.edu	37	chr1	181759648	181759651	+	Frame_Shift_Del	DEL	ATGG	ATGG	-																															atatattccagttggcttgtAtggaccccgccgatgacgga																										TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:181759648_181759651delATGG	ENST00000526775.1	+	43	5962_5965	c.5797_5800delATGG	c.(5797-5802)acfs	p.MD1933fs	CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.MD1933fs|CACNA1E_ENST00000367567.4_Frame_Shift_Del_p.MD1559fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.MD1952fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.MD1884fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.MD1903fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.MD1952fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1952					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTTGGCTTGTATGGACCCCGCCGA	0.495													14	50	---	---	---	---					-	181759651	ATGG	-	181759648	7	5	34	1	0	1	0	1	0	0	0	0	2567	449	16	0	6028	0	CACNA1E	1	181759648	Frame_Shift_Del	DEL	ATGG	TCGA-BA-A6DJ-01A-11D-A30E-08	21625593	181759648	67490973	33	6493											
HMCN1	83872	broad.mit.edu	37	chr1	186050343	186050343	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatcctttgttagtgccGccaattatcaagggagcaaa	12	11	9	9	1	1	0	1	0	0	0	2	1	2	1	3	1	3	3	3	1	6	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:186050343G>A	ENST00000271588.4	+	56	8833	c.8604G>A	c.(8602-8604)ccG>ccA	p.P2868P	HMCN1_ENST00000367492.2_Silent_p.P2868P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2868	Ig-like C2-type 27.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTAGTGCCGCCAATTATCA	0.423													4	195					0	0	0	0	A	186050343	G	A	186050343	2	1	34	1	0	0	0	0	0	0	0	1	7270	1074	38	1		1	HMCN1	1	186050343	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	4290695	186050343	63200278	34	6494											
RPS6KC1	26750	broad.mit.edu	37	chr1	213405586	213405586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcagtatttcttgtgctgCagcatgcggaaggttggttt	7	15	13	6	1	2	0	1	0	1	0	2	1	2	1	0	3	4	6	0	3	2	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:213405586C>A	ENST00000366960.3	+	10	1363	c.1213C>A	c.(1213-1215)Cag>Aag	p.Q405K	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.Q393K|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.Q108K|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.Q193K	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	405	Protein kinase 1.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TCTTGTGCTGCAGCATGCGGA	0.448													42	175					4.18559e-23	4.50406e-23	1	0	A	213405586	C	A	213405586	3	1	34	1	0	0	0	0	1	0	0	0	13743	711	25	4	1251	4	RPS6KC1	1	213405586	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	27355243	213405586	35845035	35	6495											
HLX	3142	broad.mit.edu	37	chr1	221053273	221053273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccgcttactgctcctcggCcggcccaggcggctgctcct	2	8	13	18	4	0	0	0	0	0	0	3	0	2	0	5	5	3	4	5	5	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:221053273C>T	ENST00000366903.6	+	1	1575	c.74C>T	c.(73-75)gCc>gTc	p.A25V	HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	25					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		TGCTCCTCGGCCGGCCCAGGC	0.697													5	13					0	0	0	0	T	221053273	C	T	221053273	3	4	34	1	0	0	0	0	1	0	0	0	7266	739	26	4	76	4	HLX	1	221053273	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	7647687	221053273	28197348	36	6496											
TP53BP2	7159	broad.mit.edu	37	chr1	223987650	223987650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctggttcttcctcagagtaCcaaaggaaggtggggcattg	9	11	13	8	0	3	1	1	0	2	1	4	2	4	2	2	5	1	3	2	5	3	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:223987650C>T	ENST00000391878.2	-	12	1817	c.1049G>A	c.(1048-1050)gGt>gAt	p.G350D	TP53BP2_ENST00000343537.7_Missense_Mutation_p.G479D|TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	473					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CCTCAGAGTACCAAAGGAAGG	0.433													10	54					0	0	0	0	T	223987650	C	T	223987650	3	4	34	1	0	0	0	0	1	0	0	0	16479	507	18	4	2000	4	TP53BP2	1	223987650	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	2934377	223987650	25262971	37	6497											
NVL	4931	broad.mit.edu	37	chr1	224492497	224492497	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgttggagatctggaattCtaaccccctggctttagctg	8	12	10	11	1	2	1	0	0	2	1	2	3	2	2	2	3	2	3	2	3	3	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:224492497C>G	ENST00000281701.6	-	8	1025	c.766G>C	c.(766-768)Gaa>Caa	p.E256Q	NVL_ENST00000469075.1_Missense_Mutation_p.E165Q|NVL_ENST00000482491.1_5'UTR|NVL_ENST00000391875.2_Missense_Mutation_p.E150Q|NVL_ENST00000361463.3_Missense_Mutation_p.E150Q|NVL_ENST00000340871.4_Missense_Mutation_p.E40Q	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	256						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ATCTGGAATTCTAACCCCCTG	0.318													8	148					0	0	0	0	G	224492497	C	G	224492497	3	3	34	1	0	0	0	0	1	0	0	0	10851	922	32	2	1868	2	NVL	1	224492497	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	504847	224492497	24758124	38	6498											
EPHX1	2052	broad.mit.edu	37	chr1	226032238	226032238	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctgaccaacgtcatgctCtactggacaacaggcaccat	11	8	8	14	1	2	1	1	1	1	0	2	2	2	2	2	2	5	3	2	2	3	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:226032238C>G	ENST00000366837.4	+	8	1276	c.1080C>G	c.(1078-1080)ctC>ctG	p.L360L	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Silent_p.L360L	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	360					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					ACGTCATGCTCTACTGGACAA	0.572													4	89					0	0	0	0	G	226032238	C	G	226032238	2	3	34	1	0	0	0	0	0	0	0	1	5217	900	32	2		2	EPHX1	1	226032238	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1539741	226032238	23218383	39	6499											
TAF5L	27097	broad.mit.edu	37	chr1	229738001	229738001	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgtctacttggtggggctCtgattttaacttcttggatc	6	16	10	9	1	3	1	0	1	3	0	4	2	3	2	0	4	2	1	0	4	2	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:229738001C>G	ENST00000366675.3	-	4	1001	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	TAF5L_ENST00000258281.2_Missense_Mutation_p.E305Q|TAF5L_ENST00000366676.1_Missense_Mutation_p.E305Q	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	305					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TGGTGGGGCTCTGATTTTAAC	0.468													16	44					0	0	0	0	G	229738001	C	G	229738001	3	3	34	1	0	0	0	0	1	0	0	0	15620	922	32	2	870	2	TAF5L	1	229738001	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	3705763	229738001	19512620	40	6500											
ARID4B	51742	broad.mit.edu	37	chr1	235335980	235335980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctccgatcaatggaaGctacttcagattttaatgac	11	14	6	10	1	3	2	2	1	1	1	5	4	4	3	2	1	2	1	2	1	4	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:235335980G>A	ENST00000264183.3	-	23	4261	c.3764C>T	c.(3763-3765)gCt>gTt	p.A1255V	ARID4B_ENST00000366603.2_Missense_Mutation_p.A1255V|ARID4B_ENST00000349213.3_Missense_Mutation_p.A1169V	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATCAATGGAAGCTACTTCAGA	0.318													4	19					0	0	0	0	A	235335980	G	A	235335980	3	1	34	1	0	0	0	0	1	0	0	0	922	971	34	4	182	4	ARID4B	1	235335980	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	5597979	235335980	13914641	41	6501											
RYR2	6262	broad.mit.edu	37	chr1	237777403	237777403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttcactatcacactctcCggctctactcagccgtctgt	8	13	5	15	2	6	0	3	0	3	0	7	0	6	0	2	1	2	1	2	1	3	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:237777403C>T	ENST00000366574.2	+	37	5292	c.4975C>T	c.(4975-4977)Cgg>Tgg	p.R1659W	RYR2_ENST00000360064.6_Missense_Mutation_p.R1657W|RYR2_ENST00000542537.1_Missense_Mutation_p.R1643W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1659	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCACACTCTCCGGCTCTACTC	0.498													12	39					0	0	0	0	T	237777403	C	T	237777403	3	4	34	1	0	0	0	0	1	0	0	0	13854	643	23	1	5121	1	RYR2	1	237777403	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	2441423	237777403	11473218	42	6502											
AHCTF1	25909	broad.mit.edu	37	chr1	247014083	247014083	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgttttggatacgttgacctCtcgtacgagttttggaggaa	8	14	12	7	4	1	1	0	1	1	0	2	5	1	4	1	3	2	4	1	3	3	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr1:247014083C>G	ENST00000366508.1	-	33	5466	c.5330G>C	c.(5329-5331)aGa>aCa	p.R1777T	AHCTF1_ENST00000326225.3_Missense_Mutation_p.R1751T|AHCTF1_ENST00000391829.2_Missense_Mutation_p.R1742T|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1742	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACGTTGACCTCTCGTACGAGT	0.443													14	43					0	0	0	0	G	247014083	C	G	247014083	3	3	34	1	0	0	0	0	1	0	0	0	408	913	32	2	1591	2	AHCTF1	1	247014083	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	9236680	247014083	2236538	43	6503											
GREB1	9687	broad.mit.edu	37	chr2	11752727	11752727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatggacccgcatggggagtCcttgccgaggtgagtggagg	7	7	19	8	2	0	1	0	1	0	0	1	6	1	4	3	6	1	1	3	6	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:11752727C>T	ENST00000381486.2	+	19	3413	c.3113C>T	c.(3112-3114)tCc>tTc	p.S1038F	GREB1_ENST00000396123.1_Missense_Mutation_p.S36F|GREB1_ENST00000234142.5_Missense_Mutation_p.S1038F	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1038						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CATGGGGAGTCCTTGCCGAGG	0.617													18	63					0	0	0	0	T	11752727	C	T	11752727	3	4	34	1	0	0	0	0	1	0	0	0	6810	855	30	2	3291	2	GREB1	2	11752727	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08		11752727	231446646	44	6504											
FAM179A	165186	broad.mit.edu	37	chr2	29259409	29259409	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctgtttcttcaataggtCtttgatgctttcaccccaag	7	18	6	10	0	5	1	2	1	3	0	5	1	5	1	2	1	1	2	2	1	3	6	rs141848946	byFrequency	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:29259409C>T	ENST00000379558.4	+	18	2772	c.2421C>T	c.(2419-2421)gtC>gtT	p.V807V	FAM179A_ENST00000403861.2_Silent_p.V752V|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	807							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTCAATAGGTCTTTGATGCTT	0.557													22	62					0	0	0	0	T	29259409	C	T	29259409	2	4	34	1	0	0	0	0	0	0	0	1	5546	900	32	2		2	FAM179A	2	29259409	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	17506682	29259409	213939964	45	6505											
FSHR	2492	broad.mit.edu	37	chr2	49195904	49195904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctggcttccatgagggCgacaagcttttccagagtag	9	9	14	9	1	0	2	0	1	0	1	2	4	2	2	2	3	1	4	2	3	2	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:49195904C>T	ENST00000406846.2	-	9	906	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.A237T|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Intron	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	263					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.A263T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCCATGAGGGCGACAAGCTTT	0.498									Gonadal Dysgenesis, 46 XX				22	69					0	0	0	0	T	49195904	C	T	49195904	3	4	34	1	0	0	0	0	1	0	0	0	6121	768	27	1	1308	1	FSHR	2	49195904	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	19936495	49195904	194003469	46	6506											
REL	5966	broad.mit.edu	37	chr2	61118956	61118956	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccgaacatacccttctaTccaggtaatagacccttctt	12	11	4	14	1	2	1	0	0	2	1	3	2	3	1	4	1	3	1	4	1	6	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:61118956T>C	ENST00000295025.7	+	2	469	c.149T>C	c.(148-150)aTc>aCc	p.I50T	REL_ENST00000394479.3_Missense_Mutation_p.I50T	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	50	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TACCCTTCTATCCAGGTAATA	0.438			A		Hodgkin Lymphoma								22	55					0	0	0	0	C	61118956	T	C	61118956	3	2	34	1	0	0	0	0	1	0	0	0	13297	1435	50	5	155	5	REL	2	61118956	Missense_Mutation	SNP	T	TCGA-BA-A6DJ-01A-11D-A30E-08	11923052	61118956	182080417	47	6507											
TMEM37	140738	broad.mit.edu	37	chr2	120194618	120194618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctgaggaccgcctcttcGggctctggcacttctgcacc	4	10	12	15	2	3	1	0	1	3	0	4	2	3	2	3	4	1	4	3	4	0	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:120194618G>A	ENST00000306406.4	+	2	210	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	TMEM37_ENST00000409826.1_Missense_Mutation_p.G71R|TMEM37_ENST00000465296.1_3'UTR	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	59						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CCGCCTCTTCGGGCTCTGGCA	0.647													30	107					0	0	0	0	A	120194618	G	A	120194618	3	1	34	1	0	0	0	0	1	0	0	0	16252	1116	39	1	181	1	TMEM37	2	120194618	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	59075662	120194618	123004755	48	6508											
ITGB6	3694	broad.mit.edu	37	chr2	160983072	160983072	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtactcgccagtccagccGctcctgcacacacattcacc	9	7	6	19	2	1	0	1	0	0	0	4	0	3	0	5	0	3	3	5	0	1	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:160983072G>A	ENST00000283249.2	-	11	1938	c.1701C>T	c.(1699-1701)agC>agT	p.S567S	ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000428609.2_Silent_p.S525S|ITGB6_ENST00000409872.1_Silent_p.S567S			P18564	ITB6_HUMAN	integrin, beta 6	567	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CAGTCCAGCCGCTCCTGCACA	0.567													31	91					0	0	0	0	A	160983072	G	A	160983072	2	1	34	1	0	0	0	0	0	0	0	1	7952	1078	38	1		1	ITGB6	2	160983072	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	40788454	160983072	82216301	49	6509											
TTN	7273	broad.mit.edu	37	chr2	179575889	179575889	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggtcagttttaaaaatattGagtgtggctgtattgtctaa	11	16	10	4	1	2	1	1	1	1	0	2	1	2	1	0	2	0	3	0	2	6	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:179575889G>C	ENST00000589042.1	-	97	28298	c.28074C>G	c.(28072-28074)ctC>ctG	p.L9358L	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.L8114L|TTN_ENST00000591111.1_Silent_p.L9041L|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9041	Ig-like 76.						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)			TAAAAATATTGAGTGTGGCTG	0.453													6	184					0	0	0	0	C	179575889	G	C	179575889	2	2	34	1	0	0	0	0	0	0	0	1	16831	1277	45	2		2	TTN	2	179575889	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	18592817	179575889	63623484	50	6510											
CCDC141	285025	broad.mit.edu	37	chr2	179732807	179732807	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggaaagggccagtctgtgGagatggtctacacgggcttg	10	8	16	7	1	2	1	0	0	2	1	2	3	2	2	1	5	1	1	1	5	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:179732807G>T	ENST00000420890.2	-	16	2637	c.2520C>A	c.(2518-2520)ctC>ctA	p.L840L	CCDC141_ENST00000295723.5_Silent_p.L265L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	265	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCAGTCTGTGGAGATGGTCTA	0.512													19	70					3.32936e-07	3.45138e-07	1	0	T	179732807	G	T	179732807	2	4	34	1	0	0	0	0	0	0	0	1	2800	1161	41	2		2	CCDC141	2	179732807	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	156918	179732807	63466566	51	6511											
ANKRD44	91526	broad.mit.edu	37	chr2	197878343	197878343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctttaaaggcagccaGatccagagcagtgcggcctt	9	9	12	11	1	0	2	0	0	0	2	2	2	2	2	4	2	3	2	4	2	2	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:197878343G>T	ENST00000328737.2	-	18	1817	c.1741C>A	c.(1741-1743)Ctg>Atg	p.L581M	ANKRD44_ENST00000450567.1_Missense_Mutation_p.L581M|ANKRD44_ENST00000337207.5_Missense_Mutation_p.L581M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.L598M			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	606							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAGGCAGCCAGATCCAGAGCA	0.502													9	269					1.33987e-11	1.4149e-11	1	0	T	197878343	G	T	197878343	3	4	34	1	0	0	0	0	1	0	0	0	671	933	33	2	1054	2	ANKRD44	2	197878343	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	18145536	197878343	45321030	52	6512											
USP37	57695	broad.mit.edu	37	chr2	219346853	219346853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtattttcagtgcaatgaGatgacagggtcaggtatctt	10	15	11	5	0	3	2	2	2	1	1	3	3	3	2	0	2	1	3	0	2	3	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:219346853G>A	ENST00000258399.3	-	17	2187	c.1775C>T	c.(1774-1776)tCt>tTt	p.S592F	USP37_ENST00000415516.1_Missense_Mutation_p.S520F|USP37_ENST00000454775.1_Missense_Mutation_p.S592F|USP37_ENST00000475553.1_5'UTR|USP37_ENST00000418019.1_Missense_Mutation_p.S592F	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	592					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)		AGTGCAATGAGATGACAGGGT	0.403													39	65					0	0	0	0	A	219346853	G	A	219346853	3	1	34	1	0	0	0	0	1	0	0	0	17164	942	33	2	1204	2	USP37	2	219346853	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	21468510	219346853	23852520	53	6513											
TRIP12	9320	broad.mit.edu	37	chr2	230632274	230632274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatttcttgctatgatcagGaaagatggaacgactgctgc	11	11	11	8	1	2	2	1	1	1	1	2	5	2	4	0	2	4	3	0	2	3	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:230632274G>T	ENST00000283943.5	-	41	6153	c.5975C>A	c.(5974-5976)tCc>tAc	p.S1992Y	TRIP12_ENST00000389045.3_Missense_Mutation_p.S1722Y|TRIP12_ENST00000389044.4_Missense_Mutation_p.S2040Y	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1992	HECT.			SSIEIMREKLLIAAREGQQSFHLS -> QALRYA (in Ref. 2).	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTATGATCAGGAAAGATGGAA	0.393													6	110					5.9392e-07	6.14079e-07	1	0	T	230632274	G	T	230632274	3	4	34	1	0	0	0	0	1	0	0	0	16651	1174	41	2	7	2	TRIP12	2	230632274	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	11285421	230632274	12567099	54	6514											
ALPPL2	251	broad.mit.edu	37	chr2	233273429	233273429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cacaggtctctttgagcctgGagacatgaaatacgagatcc	12	9	10	10	1	1	4	0	2	1	2	3	6	2	4	2	2	2	0	2	2	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:233273429G>C	ENST00000295453.3	+	8	924	c.872G>C	c.(871-873)gGa>gCa	p.G291A		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	291					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TTTGAGCCTGGAGACATGAAA	0.627													5	24					0	0	0	0	C	233273429	G	C	233273429	3	2	34	1	0	0	0	0	1	0	0	0	549	1174	41	2	902	2	ALPPL2	2	233273429	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	2641155	233273429	9925944	55	6515											
GIGYF2	26058	broad.mit.edu	37	chr2	233651923	233651923	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagcatgaatttatacgctCagaaagtgaaaattggcgca	17	9	9	6	2	1	3	1	2	0	1	1	3	1	3	0	1	2	3	0	1	7	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr2:233651923C>G	ENST00000373566.3	+	10	859	c.662C>G	c.(661-663)tCa>tGa	p.S221*	GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.S30*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	199	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTATACGCTCAGAAAGTGAA	0.423													29	38					0	0	0	0	G	233651923	C	G	233651923	4	3	34	1	0	0	0	0	0	1	0	0	6429	838	29	2	692	2	GIGYF2	2	233651923	Nonsense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	378494	233651923	9547450	56	6516											
IQSEC1	9922	broad.mit.edu	37	chr3	12962069	12962069	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccggaattgccgcaccacCccagggttgcagatgcagta	9	8	11	13	2	0	1	0	0	0	1	1	2	1	2	5	2	3	5	5	2	2	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:12962069C>A	ENST00000273221.4	-	6	2139	c.1923G>T	c.(1921-1923)ggG>ggT	p.G641G		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	641	SEC7.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCGCACCACCCCAGGGTTGC	0.642													4	136					0.150653	0.150653	1	0	A	12962069	C	A	12962069	2	1	34	1	0	0	0	0	0	0	0	1	7870	610	22	4		4	IQSEC1	3	12962069	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08		12962069	185060361	57	6517											
XPC	7508	broad.mit.edu	37	chr3	14187459	14187459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctcacagctgctcaaatggGaacaggtgggaagctgctgc	10	7	14	10	0	2	0	2	0	0	0	2	2	2	2	0	3	6	5	0	3	3	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:14187459G>A	ENST00000285021.7	-	16	3019	c.2805C>T	c.(2803-2805)ttC>ttT	p.F935F	RP11-434D12.1_ENST00000601399.1_RNA|AC093495.4_ENST00000420253.1_RNA|XPC_ENST00000449060.2_Silent_p.F898F	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	935	Interaction with ERCC2 and GTF2H1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTCAAATGGGAACAGGTGGG	0.592			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				26	77					0	0	0	0	A	14187459	G	A	14187459	2	1	34	1	0	0	0	0	0	0	0	1	17537	1165	41	2		2	XPC	3	14187459	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1225390	14187459	183834971	58	6518											
CCR4	1233	broad.mit.edu	37	chr3	32995849	32995849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctgggggagaaatttcGcaagtacatcctacagctct	10	13	9	9	1	2	1	0	0	2	1	4	2	3	1	1	2	3	3	1	2	4	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:32995849G>A	ENST00000330953.5	+	2	1103	c.935G>A	c.(934-936)cGc>cAc	p.R312H		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	312					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GAGAAATTTCGCAAGTACATC	0.478													4	79					0	0	0	0	A	32995849	G	A	32995849	3	1	34	1	0	0	0	0	1	0	0	0	2972	1087	38	1	937	1	CCR4	3	32995849	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	18808390	32995849	165026581	59	6519											
XIRP1	165904	broad.mit.edu	37	chr3	39230543	39230543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgttggcaaaggagccttCctcaaacttgcgggaggtgg	8	9	15	9	1	1	0	1	0	0	0	2	2	2	2	2	5	3	3	2	5	2	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:39230543C>T	ENST00000340369.3	-	2	622	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E132K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	132							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAGGAGCCTTCCTCAAACTTG	0.602													5	110					0	0	0	0	T	39230543	C	T	39230543	3	4	34	1	0	0	0	0	1	0	0	0	17525	864	30	2	5141	2	XIRP1	3	39230543	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	6234694	39230543	158791887	60	6520											
XCR1	2829	broad.mit.edu	37	chr3	46063050	46063050	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagagggggctcactacCgacaggtagcggtggatggt	8	7	19	7	2	1	1	1	0	0	1	1	4	1	2	1	7	2	2	1	7	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:46063050C>T	ENST00000309285.3	-	2	746	c.390G>A	c.(388-390)tcG>tcA	p.S130S	XCR1_ENST00000542109.1_Silent_p.S130S	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	130					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGCTCACTACCGACAGGTAGC	0.592													9	27					0	0	0	0	T	46063050	C	T	46063050	2	4	34	1	0	0	0	0	0	0	0	1	17521	639	23	1		1	XCR1	3	46063050	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	6832507	46063050	151959380	61	6521											
COL7A1	1294	broad.mit.edu	37	chr3	48611304	48611304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaccactgggccaggggggCctcttggaccctgcagaccc	6	6	13	16	0	2	1	1	0	1	1	2	2	2	2	5	5	1	1	5	5	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:48611304C>T	ENST00000328333.8	-	80	6628	c.6521G>A	c.(6520-6522)gGc>gAc	p.G2174D	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2142D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2174	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCAGGGGGGCCTCTTGGACC	0.602													5	40					0	0	0	0	T	48611304	C	T	48611304	3	4	34	1	0	0	0	0	1	0	0	0	3734	739	26	4	2469	4	COL7A1	3	48611304	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	2548254	48611304	149411126	62	6522											
SLC26A6	65010	broad.mit.edu	37	chr3	48665936	48665936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgcttcttgagcagtttCttcttctgggagatgaggaa	7	15	11	8	0	4	3	0	2	4	1	5	5	5	4	1	2	2	3	1	2	1	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:48665936C>T	ENST00000358747.6	-	15	1918	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K	SLC26A6_ENST00000395550.2_Silent_p.K577K|SLC26A6_ENST00000420764.2_Silent_p.K577K|SLC26A6_ENST00000455886.2_Silent_p.K541K|SLC26A6_ENST00000337000.8_Silent_p.K470K|SLC26A6_ENST00000383733.3_Silent_p.K577K	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TGAGCAGTTTCTTCTTCTGGG	0.552													7	150					0	0	0	0	T	48665936	C	T	48665936	2	4	34	1	0	0	0	0	0	0	0	1	14609	912	32	2		2	SLC26A6	3	48665936	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	54632	48665936	149356494	63	6523											
AMIGO3	386724	broad.mit.edu	37	chr3	49755598	49755598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggtgtggtgctgagtactGaggactgtgcgctcagctct	5	11	16	9	2	2	2	1	2	1	0	2	3	2	3	0	3	4	4	0	3	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:49755598G>A	ENST00000535833.1	-	10	4751	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.S434L|RNF123_ENST00000433785.1_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	434					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTGAGTACTGAGGACTGTGC	0.692													8	233					0	0	0	0	A	49755598	G	A	49755598	3	1	34	1	0	0	0	0	1	0	0	0	577	1294	45	2	217	2	AMIGO3	3	49755598	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1089662	49755598	148266832	64	6524											
HYAL1	3373	broad.mit.edu	37	chr3	50339650	50339650	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcactgcgggcatgtaGatgctgggatagagggcacg	9	7	16	9	2	0	2	0	0	0	2	1	3	1	3	1	3	3	5	1	3	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:50339650G>T	ENST00000266031.4	-	1	1353	c.738C>A	c.(736-738)atC>atA	p.I246I	HYAL1_ENST00000320295.8_Silent_p.I246I|HYAL1_ENST00000395144.2_Silent_p.I246I|HYAL1_ENST00000395143.2_Silent_p.I246I|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000457214.2_Silent_p.I64I			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	246						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	CGGGCATGTAGATGCTGGGAT	0.617													20	63					3.5997e-14	3.83194e-14	1	0	T	50339650	G	T	50339650	2	4	34	1	0	0	0	0	0	0	0	1	7516	932	33	2		2	HYAL1	3	50339650	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	584052	50339650	147682780	65	6525											
HYAL1	3373	broad.mit.edu	37	chr3	50339662	50339662	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatgtagatgctgggataGagggcacggctctggcccca	8	7	16	10	1	1	2	0	0	1	2	1	3	1	3	2	5	1	5	2	5	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:50339662G>A	ENST00000266031.4	-	1	1341	c.726C>T	c.(724-726)ctC>ctT	p.L242L	HYAL1_ENST00000320295.8_Silent_p.L242L|HYAL1_ENST00000395144.2_Silent_p.L242L|HYAL1_ENST00000395143.2_Silent_p.L242L|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000457214.2_Silent_p.L60L			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	242						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	TGCTGGGATAGAGGGCACGGC	0.597													20	62					0	0	0	0	A	50339662	G	A	50339662	2	1	34	1	0	0	0	0	0	0	0	1	7516	929	33	2		2	HYAL1	3	50339662	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	12	50339662	147682768	66	6526											
EPHA3	2042	broad.mit.edu	37	chr3	89499368	89499368	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatcgactgccacccccCatggactgcccagctgcctt	6	8	9	18	1	0	0	0	0	0	0	1	2	0	1	6	2	4	2	6	2	1	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:89499368C>T	ENST00000336596.2	+	15	2763	c.2538C>T	c.(2536-2538)ccC>ccT	p.P846P	EPHA3_ENST00000494014.1_Silent_p.P846P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	846	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGCCACCCCCCATGGACTGCC	0.473										TSP Lung(6;0.00050)			14	40					0	0	0	0	T	89499368	C	T	89499368	2	4	34	1	0	0	0	0	0	0	0	1	5206	581	21	4		4	EPHA3	3	89499368	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	39159706	89499368	108523062	67	6527											
OR5H1	26341	broad.mit.edu	37	chr3	97852281	97852281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtggagcccatctcttctCtgtctctttatactatggac	6	16	7	12	0	3	0	0	0	3	0	6	2	3	2	1	2	2	0	1	2	3	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:97852281C>T	ENST00000354565.2	+	1	740	c.740C>T	c.(739-741)tCt>tTt	p.S247F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CATCTCTTCTCTGTCTCTTTA	0.413													38	92					0	0	0	0	T	97852281	C	T	97852281	3	4	34	1	0	0	0	0	1	0	0	0	11230	913	32	2	742	2	OR5H1	3	97852281	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	8352913	97852281	100170149	68	6528											
PHLDB2	90102	broad.mit.edu	37	chr3	111603716	111603716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgtacagagccacagaGaaccagctgacacctctcag	13	6	10	12	0	1	3	1	1	1	2	2	4	1	3	3	1	4	3	3	1	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:111603716G>T	ENST00000431670.2	+	2	1203	c.792G>T	c.(790-792)gaG>gaT	p.E264D	PHLDB2_ENST00000481953.1_Missense_Mutation_p.E264D|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E291D|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E264D|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E264D|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E264D|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E264D	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	264						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGCCACAGAGAACCAGCTGA	0.483													16	65					1.3612e-06	1.40374e-06	1	0	T	111603716	G	T	111603716	3	4	34	1	0	0	0	0	1	0	0	0	11924	933	33	2	879	2	PHLDB2	3	111603716	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	13751435	111603716	86418714	69	6529											
SIDT1	54847	broad.mit.edu	37	chr3	113330987	113330987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttctctgcaatccacgttCtggcctcgctagccctcagc	5	12	7	17	2	4	0	1	0	3	0	7	0	5	0	3	1	3	3	3	1	2	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:113330987C>G	ENST00000264852.4	+	19	2638	c.1912C>G	c.(1912-1914)Ctg>Gtg	p.L638V	SIDT1_ENST00000393830.3_Missense_Mutation_p.L638V|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	638						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AATCCACGTTCTGGCCTCGCT	0.418													15	45					0	0	0	0	G	113330987	C	G	113330987	3	3	34	1	0	0	0	0	1	0	0	0	14390	912	32	2	1986	2	SIDT1	3	113330987	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1727271	113330987	84691443	70	6530											
GOLGB1	2804	broad.mit.edu	37	chr3	121413052	121413052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgactgaagttcctttttCaacttgagattgtctgctag	8	18	8	7	0	2	3	1	3	1	1	3	4	3	3	1	0	2	2	1	0	3	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:121413052C>G	ENST00000393667.3	-	13	6428	c.6318G>C	c.(6316-6318)ttG>ttC	p.L2106F	GOLGB1_ENST00000340645.5_Missense_Mutation_p.L2101F	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2101					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTCCTTTTTCAACTTGAGAT	0.423													5	171					0	0	0	0	G	121413052	C	G	121413052	3	3	34	1	0	0	0	0	1	0	0	0	6613	825	29	2	3516	2	GOLGB1	3	121413052	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	8082065	121413052	76609378	71	6531											
ADCY5	111	broad.mit.edu	37	chr3	123018978	123018978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccatacatggcgttggcGgtgaccagcaggtcggcgtt	6	8	15	12	4	0	1	0	1	0	0	1	1	0	1	3	5	2	3	3	5	1	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:123018978G>A	ENST00000462833.1	-	15	4101	c.2889C>T	c.(2887-2889)acC>acT	p.T963T	ADCY5_ENST00000491190.1_Silent_p.T596T|ADCY5_ENST00000309879.5_Silent_p.T613T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	963					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGGCGTTGGCGGTGACCAGCA	0.612													17	57					0	0	0	0	A	123018978	G	A	123018978	2	1	34	1	0	0	0	0	0	0	0	1	297	1103	39	1		1	ADCY5	3	123018978	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1605926	123018978	75003452	72	6532											
COL6A5	256076	broad.mit.edu	37	chr3	130159096	130159096	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcatagacaattctCggaatatagcaaaggatgag	14	11	8	8	1	3	2	1	1	2	1	5	4	4	4	1	2	1	1	1	2	6	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:130159096C>A	ENST00000265379.6	+	35	6408	c.5914C>A	c.(5914-5916)Cgg>Agg	p.R1972R	COL6A5_ENST00000432398.2_Silent_p.R1972R			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1972	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGACAATTCTCGGAATATAGC	0.403													9	28					1.12685e-05	1.15306e-05	1	0	A	130159096	C	A	130159096	2	1	34	1	0	0	0	0	0	0	0	1	3732	875	31	3		3	COL6A5	3	130159096	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	7140118	130159096	67863334	73	6533											
SRPRB	58477	broad.mit.edu	37	chr3	133524729	133524729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgccgggtggcagatggcGgcggtgccgggggcaccttc	3	5	20	13	6	0	1	0	0	0	1	1	1	0	1	3	7	1	2	3	7	0	1	rs139369374	by1000genomes	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:133524729G>A	ENST00000466490.2	+	2	322	c.37G>A	c.(37-39)Ggc>Agc	p.G13S		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	13						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						GGCAGATGGCGGCGGTGCCGG	0.677													34	79					0	0	0	0	A	133524729	G	A	133524729	3	1	34	1	0	0	0	0	1	0	0	0	15253	1116	39	1	39	1	SRPRB	3	133524729	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	3365633	133524729	64497701	74	6534											
EIF5A2	56648	broad.mit.edu	37	chr3	170625446	170625446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttaccttggcatgaccatgCtttccagttttggaagttga	8	15	9	9	0	0	2	0	2	0	0	1	3	1	3	3	2	2	4	3	2	2	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:170625446C>A	ENST00000295822.2	-	2	335	c.150G>T	c.(148-150)aaG>aaT	p.K50N	EIF5A2_ENST00000487522.1_Missense_Mutation_p.K50N|EIF5A2_ENST00000474096.1_Missense_Mutation_p.K50N|EIF5A2_ENST00000460117.1_Intron	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	50					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			CATGACCATGCTTTCCAGTTT	0.468													57	144					7.41606e-26	8.00206e-26	1	0	A	170625446	C	A	170625446	3	1	34	1	0	0	0	0	1	0	0	0	5080	796	28	4	327	4	EIF5A2	3	170625446	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	37100717	170625446	27396984	75	6535											
ACTL6A	86	broad.mit.edu	37	chr3	179287900	179287900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtagaaagagatgacGgaagcacattaatggaaata	17	8	13	3	1	0	3	0	1	0	2	0	6	0	5	0	4	1	2	0	4	6	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:179287900G>A	ENST00000429709.2	+	3	361	c.148G>A	c.(148-150)Gga>Aga	p.G50R	ACTL6A_ENST00000450518.2_Missense_Mutation_p.G8R|ACTL6A_ENST00000392662.1_Missense_Mutation_p.G8R	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	50					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AAGAGATGACGGAAGCACATT	0.423													5	138					0	0	0	0	A	179287900	G	A	179287900	3	1	34	1	0	0	0	0	1	0	0	0	198	1117	39	1	158	1	ACTL6A	3	179287900	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	8662454	179287900	18734530	76	6536											
RPL39L	116832	broad.mit.edu	37	chr3	186839066	186839066	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccaggaatcgcttaatgGtgaaagtcttgtgagaagac	12	10	13	6	1	1	3	0	2	1	2	2	5	1	4	1	3	0	1	1	3	4	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:186839066G>C	ENST00000296277.4	-	3	425	c.23C>G	c.(22-24)aCc>aGc	p.T8S	RPL39L_ENST00000455270.1_Missense_Mutation_p.T8S|RPL39L_ENST00000433055.1_Missense_Mutation_p.T8S	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	8					spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		TCGCTTAATGGTGAAAGTCTT	0.448													42	88					0	0	0	0	C	186839066	G	C	186839066	3	2	34	1	0	0	0	0	1	0	0	0	13678	1261	44	4	136	4	RPL39L	3	186839066	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	7551166	186839066	11183364	77	6537											
CLDN16	10686	broad.mit.edu	37	chr3	190106101	190106101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgcccatgttgccatcctGatgggctgcttgccacaatg	6	12	10	13	0	1	1	0	1	1	0	2	1	2	1	4	1	4	3	4	1	1	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr3:190106101G>A	ENST00000264734.2	+	1	441	c.193G>A	c.(193-195)Gat>Aat	p.D65N	CLDN16_ENST00000456423.1_Missense_Mutation_p.D65N|CLDN16_ENST00000468220.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	65					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TTGCCATCCTGATGGGCTGCT	0.507													37	94					0	0	0	0	A	190106101	G	A	190106101	3	1	34	1	0	0	0	0	1	0	0	0	3507	1290	45	2	195	2	CLDN16	3	190106101	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	3267035	190106101	7916329	78	6538											
ZNF518B	85460	broad.mit.edu	37	chr4	10447434	10447434	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctctgaaactctcctttCgtatacgaaatgtagctgca	10	13	7	11	2	2	1	0	1	2	0	4	2	2	1	2	0	5	4	2	0	5	4	rs111972960		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:10447434C>T	ENST00000326756.3	-	3	957	c.519G>A	c.(517-519)acG>acA	p.T173T		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ACTCTCCTTTCGTATACGAAA	0.398													4	132					0	0	0	0	T	10447434	C	T	10447434	2	4	34	1	0	0	0	0	0	0	0	1	18058	871	31	1		1	ZNF518B	4	10447434	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08		10447434	180706842	79	6539											
KDR	3791	broad.mit.edu	37	chr4	55958791	55958791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacctttcttacctttcgcGatgccaagaactccatgccc	9	11	5	16	2	1	1	0	0	1	1	3	2	2	1	5	0	5	0	5	0	4	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:55958791G>A	ENST00000263923.4	-	22	3357	c.3062C>T	c.(3061-3063)tCg>tTg	p.S1021L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1021	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TACCTTTCGCGATGCCAAGAA	0.458			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			16	60					0	0	0	0	A	55958791	G	A	55958791	3	1	34	1	0	0	0	0	1	0	0	0	8191	1059	37	1	1044	1	KDR	4	55958791	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	45511357	55958791	135195485	80	6540											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68698966	68698966	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatccacatgttattgatCaggctgcctccacagtggtg	9	11	11	10	0	1	1	1	1	0	0	3	2	3	2	3	3	1	2	3	3	1	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:68698966C>G	ENST00000283916.6	-	7	746	c.648G>C	c.(646-648)ctG>ctC	p.L216L	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Silent_p.L99L	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	216	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGTTATTGATCAGGCTGCCTC	0.537													29	87					0	0	0	0	G	68698966	C	G	68698966	2	3	34	1	0	0	0	0	0	0	0	1	16335	813	29	2		2	TMPRSS11D	4	68698966	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	12740175	68698966	122455310	81	6541											
SLC4A4	8671	broad.mit.edu	37	chr4	72363371	72363371	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctacacctcttccatggctCtgaaaaaattcaaaactagt	14	11	4	12	0	3	1	1	1	2	0	4	1	4	1	3	1	2	1	3	1	7	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:72363371C>G	ENST00000340595.3	+	13	2192	c.1996C>G	c.(1996-1998)Ctg>Gtg	p.L666V	SLC4A4_ENST00000425175.1_Missense_Mutation_p.L710V|SLC4A4_ENST00000351898.6_Missense_Mutation_p.L710V|SLC4A4_ENST00000264485.5_Missense_Mutation_p.L710V	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	710						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTCCATGGCTCTGAAAAAATT	0.363													25	87					0	0	0	0	G	72363371	C	G	72363371	3	3	34	1	0	0	0	0	1	0	0	0	14744	912	32	2	2307	2	SLC4A4	4	72363371	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	3664405	72363371	118790905	82	6542											
FAT4	79633	broad.mit.edu	37	chr4	126373545	126373545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaaagagatccttctcCggcagagtggagtaaaggtg	12	8	13	8	1	2	2	1	0	1	2	4	4	3	3	2	3	0	3	2	3	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:126373545C>T	ENST00000394329.3	+	9	11387	c.11374C>T	c.(11374-11376)Cgg>Tgg	p.R3792W	FAT4_ENST00000335110.5_Missense_Mutation_p.R2090W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3792					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATCCTTCTCCGGCAGAGTGG	0.483													22	62					0	0	0	0	T	126373545	C	T	126373545	3	4	34	1	0	0	0	0	1	0	0	0	5737	643	23	1	11408	1	FAT4	4	126373545	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	54010174	126373545	64780731	83	6543											
MFSD8	256471	broad.mit.edu	37	chr4	128886243	128886243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacctgcttccaggtgtgtCgcctaagagcggctcctgtt	5	12	11	13	2	1	1	1	0	0	1	4	1	3	1	4	2	2	3	4	2	1	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:128886243C>T	ENST00000296468.3	-	2	173	c.46G>A	c.(46-48)Gac>Aac	p.D16N	MFSD8_ENST00000541133.1_Intron|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Intron	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	16					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						CCAGGTGTGTCGCCTAAGAGC	0.617													8	24					0	0	0	0	T	128886243	C	T	128886243	3	4	34	1	0	0	0	0	1	0	0	0	9607	884	31	1	1558	1	MFSD8	4	128886243	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	2512698	128886243	62268033	84	6544											
DCHS2	54798	broad.mit.edu	37	chr4	155254404	155254404	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtctgggatattctaaTctcatccgaggtcctgagga	8	12	12	9	2	3	1	1	1	3	0	6	4	5	3	2	4	0	0	2	4	2	3	rs150770753		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:155254404T>G	ENST00000357232.3	-	9	1458	c.1459A>C	c.(1459-1461)Att>Ctt	p.I487L	DCHS2_ENST00000339452.1_Missense_Mutation_p.I986L|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	487	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATATTCTAATCTCATCCGAG	0.597													23	85					0	0	0	0	G	155254404	T	G	155254404	3	3	34	1	0	0	0	0	1	0	0	0	4320	1435	50	5	7455	5	DCHS2	4	155254404	Missense_Mutation	SNP	T	TCGA-BA-A6DJ-01A-11D-A30E-08	26368161	155254404	35899872	85	6545											
DDX60	55601	broad.mit.edu	37	chr4	169227642	169227642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgttgaccttccttgcccaaGaatgaatgattaaaaagttg	13	12	8	8	1	0	4	0	3	0	1	1	4	1	4	3	0	1	2	3	0	6	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:169227642G>A	ENST00000393743.3	-	5	785	c.494C>T	c.(493-495)tCt>tTt	p.S165F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	165							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CCTTGCCCAAGAATGAATGAT	0.413													4	91					0	0	0	0	A	169227642	G	A	169227642	3	1	34	1	0	0	0	0	1	0	0	0	4410	942	33	2	4780	2	DDX60	4	169227642	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	13973238	169227642	21926634	86	6546											
FAT1	2195	broad.mit.edu	37	chr4	187521139	187521140	+	Frame_Shift_Ins	INS	-	-	TACT																															gtcaggaagcagcctggagaINStacatccaccgactcttcga																										TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:187521139_187521140insTACT	ENST00000441802.2	-	22	12224_12225	c.12015_12016insAGTA	c.(12013-12018)gtctccfs	p.S4006fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4006	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGCCTGGAGATACATCCACCG	0.54										HNSCC(5;0.00058)			45	109	---	---	---	---					TACT	187521140	-	TACT	187521139	7	5	34	1	0	1	1	0	0	0	0	0	5734	333	12	0	1774	0	FAT1	4	187521139	Frame_Shift_Ins	INS	-	TCGA-BA-A6DJ-01A-11D-A30E-08	18293497	187521139	3633137	87	6547											
FAT1	2195	broad.mit.edu	37	chr4	187538959	187538960	+	Frame_Shift_Ins	INS	-	-	A																															cttgggggtcatcctcactcINSacagtccctttatagatctc																										TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr4:187538959_187538960insA	ENST00000441802.2	-	10	8989_8990	c.8780_8781insT	c.(8779-8781)gagfs	p.E2927fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2927	Cadherin 27.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATCCTCACTCACAGTCCCTTT	0.47										HNSCC(5;0.00058)			41	101	---	---	---	---					A	187538960	-	A	187538959	7	5	34	1	0	1	1	0	0	0	0	0	5734	813	29	0	5057	0	FAT1	4	187538959	Frame_Shift_Ins	INS	-	TCGA-BA-A6DJ-01A-11D-A30E-08	17820	187538959	3615317	88	6548											
ADCY2	108	broad.mit.edu	37	chr5	7773108	7773108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttcctgcgggtaaactatGagctgaagatgttgatcatg	10	13	12	6	1	1	4	1	3	0	1	2	4	2	4	1	1	3	4	1	1	4	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:7773108G>A	ENST00000338316.4	+	18	2367	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	ADCY2_ENST00000537121.1_Missense_Mutation_p.E580K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	760					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGTAAACTATGAGCTGAAGAT	0.502													46	126					0	0	0	0	A	7773108	G	A	7773108	3	1	34	1	0	0	0	0	1	0	0	0	294	1291	45	2	2348	2	ADCY2	5	7773108	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08		7773108	173142152	89	6549											
FBXL7	23194	broad.mit.edu	37	chr5	15936965	15936965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaagctgcgctacctcaaCgcgaggggctgcgagggcat	9	5	15	12	4	1	0	1	0	0	0	1	2	1	0	1	3	6	5	1	3	3	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:15936965C>T	ENST00000504595.1	+	4	1627	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	FBXL7_ENST00000329673.7_Silent_p.N370N|FBXL7_ENST00000510662.1_Silent_p.N335N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	382					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTACCTCAACGCGAGGGGCT	0.617													5	24					0	0	0	0	T	15936965	C	T	15936965	2	4	34	1	0	0	0	0	0	0	0	1	5769	535	19	1		1	FBXL7	5	15936965	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	8163857	15936965	164978295	90	6550											
PDZD2	23037	broad.mit.edu	37	chr5	32052762	32052762	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgctccttaagcacgactCaggtggaatctccttggagg	8	9	11	13	2	2	0	1	0	1	0	4	3	3	2	3	4	1	2	3	4	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:32052762C>G	ENST00000438447.1	+	9	2099	c.1711C>G	c.(1711-1713)Cag>Gag	p.Q571E	PDZD2_ENST00000282493.3_Missense_Mutation_p.Q571E			O15018	PDZD2_HUMAN	PDZ domain containing 2	571					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGCACGACTCAGGTGGAATC	0.463													8	159					0	0	0	0	G	32052762	C	G	32052762	3	3	34	1	0	0	0	0	1	0	0	0	11772	827	29	2	1741	2	PDZD2	5	32052762	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	16115797	32052762	148862498	91	6551											
DNAJC21	134218	broad.mit.edu	37	chr5	34945895	34945895	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagaagaaaaagaaacAgaaaccagcacaggtatgtt	23	4	8	6	0	0	4	0	0	0	4	0	4	0	4	1	1	4	3	1	1	8	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:34945895A>T	ENST00000382021.2	+	9	1399	c.1172A>T	c.(1171-1173)cAg>cTg	p.Q391L	DNAJC21_ENST00000342382.4_Missense_Mutation_p.Q391L|DNAJC21_ENST00000303525.7_Missense_Mutation_p.Q404L|DNAJC21_ENST00000512136.1_3'UTR	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	391	Poly-Lys.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AAAAAGAAACAGAAACCAGCA	0.318													23	101					0	0	0	0	T	34945895	A	T	34945895	3	4	34	1	0	0	0	0	1	0	0	0	4676	188	7	5	1206	5	DNAJC21	5	34945895	Missense_Mutation	SNP	A	TCGA-BA-A6DJ-01A-11D-A30E-08	2893133	34945895	145969365	92	6552											
WDR70	55100	broad.mit.edu	37	chr5	37605166	37605166	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatctcctgatcatttttagGactgtgaggacgtgggaagt	10	13	12	6	1	2	2	1	2	1	0	3	5	2	5	1	3	0	0	1	3	3	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:37605166G>T	ENST00000265107.4	+	10	1074	c.917_splice	c.e10-1	p.A306_splice	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Splice_Site_p.A306_splice	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	306										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCATTTTTAGGACTGTGAGGA	0.388													9	20					3.09899e-07	3.22947e-07	1	0	T	37605166	G	T	37605166	5	4	34	1	0	0	0	0	0	0	1	0	17417	1188	41	2	956	2	WDR70	5	37605166	Splice_Site	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	2659271	37605166	143310094	93	6553											
SNX18	112574	broad.mit.edu	37	chr5	53815305	53815305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccattggcgagctcttcgCggagcagcccaggcaggacc	7	5	14	15	4	1	0	0	0	1	0	2	3	1	2	3	4	3	3	3	4	0	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:53815305C>T	ENST00000343017.6	+	1	1717	c.1523C>T	c.(1522-1524)gCg>gTg	p.A508V	SNX18_ENST00000381410.4_Missense_Mutation_p.A508V|SNX18_ENST00000326277.3_Missense_Mutation_p.A508V	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	508	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GAGCTCTTCGCGGAGCAGCCC	0.597													4	130					0	0	0	0	T	53815305	C	T	53815305	3	4	34	1	0	0	0	0	1	0	0	0	14977	768	27	1	1525	1	SNX18	5	53815305	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	16210139	53815305	127099955	94	6554											
ADAMTS6	11174	broad.mit.edu	37	chr5	64769418	64769418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctaccttgagaactgtatGaaagcctgtggtcactatga	11	12	9	9	0	1	3	1	3	0	1	2	4	2	3	3	1	3	1	3	1	5	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:64769418G>A	ENST00000536360.1	-	2	896	c.83C>T	c.(82-84)tCa>tTa	p.S28L				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	28					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AGAACTGTATGAAAGCCTGTG	0.363													44	155					0	0	0	0	A	64769418	G	A	64769418	3	1	34	1	0	0	0	0	1	0	0	0	270	1294	45	2	3366	2	ADAMTS6	5	64769418	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	10954113	64769418	116145842	95	6555											
MAST4	375449	broad.mit.edu	37	chr5	66460512	66460512	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagcccaagtggtgacgtGagggcctctgtgccaccagt	7	7	13	14	1	1	2	0	2	1	0	1	2	1	2	5	2	2	0	5	2	1	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:66460512G>C	ENST00000404260.3	+	29	5822	c.5514G>C	c.(5512-5514)gtG>gtC	p.V1838V	MAST4_ENST00000405643.1_Silent_p.V1656V|MAST4_ENST00000403666.1_Silent_p.V1646V|MAST4_ENST00000261569.7_Silent_p.V1641V|MAST4_ENST00000403625.2_Silent_p.V1835V			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1838						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GTGGTGACGTGAGGGCCTCTG	0.552													3	78					0	0	0	0	C	66460512	G	C	66460512	2	2	34	1	0	0	0	0	0	0	0	1	9396	1277	45	2		2	MAST4	5	66460512	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1691094	66460512	114454748	96	6556											
RASGRF2	5924	broad.mit.edu	37	chr5	80408576	80408576	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcttagtattgatttcctCaacacctttctgcacaccta	9	17	3	12	0	3	1	1	1	2	0	4	1	4	1	3	0	2	2	3	0	4	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:80408576C>G	ENST00000265080.4	+	14	2053	c.1986C>G	c.(1984-1986)ctC>ctG	p.L662L		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	662	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTGATTTCCTCAACACCTTTC	0.502													6	314					0	0	0	0	G	80408576	C	G	80408576	2	3	34	1	0	0	0	0	0	0	0	1	13155	813	29	2		2	RASGRF2	5	80408576	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	13948064	80408576	100506684	97	6557											
HAPLN1	1404	broad.mit.edu	37	chr5	82969304	82969304	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgaaagatgatcagcccaGcagattgaaatcagcaccag	15	7	9	10	0	3	5	2	3	1	2	3	5	3	5	2	0	3	2	2	0	2	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:82969304G>A	ENST00000274341.4	-	2	889	c.39C>T	c.(37-39)tgC>tgT	p.C13C	HAPLN1_ENST00000514416.1_Silent_p.C13C	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	13					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GATCAGCCCAGCAGATTGAAA	0.403													36	61					0	0	0	0	A	82969304	G	A	82969304	2	1	34	1	0	0	0	0	0	0	0	1	7004	963	34	4		4	HAPLN1	5	82969304	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	2560728	82969304	97945956	98	6558											
TMEM161B	153396	broad.mit.edu	37	chr5	87516424	87516424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccagactaagctgatattCatttcctgtgtaggcttcat	10	14	7	10	0	2	2	2	1	0	1	3	2	3	2	2	1	1	3	2	1	3	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:87516424C>G	ENST00000296595.6	-	5	526	c.402G>C	c.(400-402)atG>atC	p.M134I	TMEM161B_ENST00000512429.1_Missense_Mutation_p.M123I|TMEM161B_ENST00000511218.1_5'UTR|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000514135.1_Missense_Mutation_p.M134I|TMEM161B_ENST00000509387.1_Missense_Mutation_p.M7I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	134						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AGCTGATATTCATTTCCTGTG	0.358													15	44					0	0	0	0	G	87516424	C	G	87516424	3	3	34	1	0	0	0	0	1	0	0	0	16171	826	29	2	1093	2	TMEM161B	5	87516424	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	4547120	87516424	93398836	99	6559											
MBLAC2	153364	broad.mit.edu	37	chr5	89769875	89769875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacgtgggtggccacggCaagcagtggccggcgcgccg	5	4	19	13	6	0	0	0	0	0	0	0	0	0	0	3	5	2	3	3	5	1	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:89769875C>T	ENST00000316610.6	-	1	710	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	MBLAC2_ENST00000514906.1_Missense_Mutation_p.A79T	NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	79							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						GTGGCCACGGCAAGCAGTGGC	0.711													7	14					0	0	0	0	T	89769875	C	T	89769875	3	4	34	1	0	0	0	0	1	0	0	0	9421	710	25	4	612	4	MBLAC2	5	89769875	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	2253451	89769875	91145385	100	6560											
RIOK2	55781	broad.mit.edu	37	chr5	96518836	96518836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgggtttcttaccgcggtCaagaccctgaagtcatctcg	7	10	12	12	4	4	2	2	1	2	1	5	2	4	2	2	3	1	1	2	3	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:96518836C>G	ENST00000283109.3	-	1	128	c.60G>C	c.(58-60)ttG>ttC	p.L20F	RIOK2_ENST00000508447.1_Missense_Mutation_p.L20F|CTD-2215E18.1_ENST00000509481.1_Missense_Mutation_p.Q53E	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	20							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TTACCGCGGTCAAGACCCTGA	0.562													43	164					0	0	0	0	G	96518836	C	G	96518836	3	3	34	1	0	0	0	0	1	0	0	0	13463	825	29	2	1666	2	RIOK2	5	96518836	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	6748961	96518836	84396424	101	6561											
FAM170A	340069	broad.mit.edu	37	chr5	118969673	118969673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaatccagagaatacatcGagacagcccccagcctcaat	15	5	8	13	1	1	2	1	0	0	2	3	5	2	3	4	1	3	0	4	1	4	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:118969673G>A	ENST00000515256.1	+	3	402	c.230G>A	c.(229-231)cGa>cAa	p.R77Q				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	77						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						AGAATACATCGAGACAGCCCC	0.512													22	59					0	0	0	0	A	118969673	G	A	118969673	3	1	34	1	0	0	0	0	1	0	0	0	5530	1058	37	1	240	1	FAM170A	5	118969673	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	22450837	118969673	61945587	102	6562											
ADAMTS19	171019	broad.mit.edu	37	chr5	128983509	128983509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcagcacctgaacatctgGccggagagtggagcctgtgg	8	7	14	12	1	2	2	1	1	1	1	2	4	2	3	4	4	3	1	4	4	1	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:128983509G>T	ENST00000274487.4	+	12	2051	c.1906G>T	c.(1906-1908)Gcc>Tcc	p.A636S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	636	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGAACATCTGGCCGGAGAGTG	0.507													43	141					1.48734e-19	1.59185e-19	1	0	T	128983509	G	T	128983509	3	4	34	1	0	0	0	0	1	0	0	0	264	1203	42	4	1952	4	ADAMTS19	5	128983509	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	10013836	128983509	51931751	103	6563											
PCDHB16	57717	broad.mit.edu	37	chr5	140563747	140563747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagcgccacagaccgcggctCcccggctttgagcagcgagg	7	4	15	15	5	0	2	0	1	0	1	1	4	1	2	4	3	3	3	4	3	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:140563747C>T	ENST00000361016.2	+	1	2768	c.1613C>T	c.(1612-1614)tCc>tTc	p.S538F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		538	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGCGGCTCCCCGGCTTTG	0.682													47	42					0	0	0	0	T	140563747	C	T	140563747	3	4	34	1	0	0	0	0	1	0	0	0	11612	855	30	2	1615	2	PCDHB16	5	140563747	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	11580238	140563747	40351513	104	6564											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755803	140755803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggcgctcagactgcagcGctggcacaagtcacgcctgc	7	6	13	15	3	2	1	2	0	0	1	2	1	2	1	1	2	3	5	1	2	1	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:140755803G>A	ENST00000517434.1	+	1	2153	c.2153G>A	c.(2152-2154)cGc>cAc	p.R718H	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTGCAGCGCTGGCACAAG	0.647													5	207					0	0	0	0	A	140755803	G	A	140755803	3	1	34	1	0	0	0	0	1	0	0	0	11629	1087	38	1	2155	1	PCDHGA6	5	140755803	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	192056	140755803	40159457	105	6565											
SPINK5	11005	broad.mit.edu	37	chr5	147499606	147499606	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttagaagccaaatgaaaaAtggaaaactcatctgcactc	17	9	7	8	0	2	2	1	1	1	1	3	3	2	3	1	1	3	2	1	1	7	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:147499606A>C	ENST00000359874.3	+	25	2421	c.2348A>C	c.(2347-2349)aAt>aCt	p.N783T	SPINK5_ENST00000256084.7_Missense_Mutation_p.N783T|SPINK5_ENST00000398454.1_Missense_Mutation_p.N783T	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	783	Kazal-like 12.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAATGAAAAATGGAAAACTC	0.378													7	25					0	0	0	0	C	147499606	A	C	147499606	3	2	34	1	0	0	0	0	1	0	0	0	15152	101	4	5	2446	5	SPINK5	5	147499606	Missense_Mutation	SNP	A	TCGA-BA-A6DJ-01A-11D-A30E-08	6743803	147499606	33415654	106	6566											
PPARGC1B	133522	broad.mit.edu	37	chr5	149206434	149206434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggccccagcccctgaggtgGacgagctctcactggtaaga	8	6	13	14	2	1	2	1	1	1	1	2	4	1	3	4	4	2	2	4	4	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:149206434G>C	ENST00000309241.5	+	3	483	c.451G>C	c.(451-453)Gac>Cac	p.D151H	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.D126H|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.D151H|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.D151H	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	151					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCTGAGGTGGACGAGCTCTC	0.612													18	80					0	0	0	0	C	149206434	G	C	149206434	3	2	34	1	0	0	0	0	1	0	0	0	12372	1174	41	2	468	2	PPARGC1B	5	149206434	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1706828	149206434	31708826	107	6567											
SLC6A7	6534	broad.mit.edu	37	chr5	149582169	149582169	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcgtcactctgggcaaCgccatcaccagcatcctggc	8	9	8	16	2	4	0	3	0	1	0	6	0	5	0	3	2	2	2	3	2	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:149582169C>T	ENST00000230671.2	+	8	1361	c.990C>T	c.(988-990)aaC>aaT	p.N330N	SLC6A7_ENST00000524041.1_Silent_p.N330N	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	330						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	p.N330N(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CTCTGGGCAACGCCATCACCA	0.602													35	84					0	0	0	0	T	149582169	C	T	149582169	2	4	34	1	0	0	0	0	0	0	0	1	14777	535	19	1		1	SLC6A7	5	149582169	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	375735	149582169	31333091	108	6568											
STK10	6793	broad.mit.edu	37	chr5	171481612	171481612	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgttgctctcacactgCgccagcatgtcccgcatctg	6	11	8	16	2	3	0	2	0	2	0	5	0	4	0	2	0	3	4	2	0	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:171481612C>T	ENST00000176763.5	-	17	2956	c.2613G>A	c.(2611-2613)gcG>gcA	p.A871A		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	871	Gln-rich.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTCACACTGCGCCAGCATGT	0.627													66	136					0	0	0	0	T	171481612	C	T	171481612	2	4	34	1	0	0	0	0	0	0	0	1	15376	755	27	1		1	STK10	5	171481612	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	21899443	171481612	9433648	109	6569											
BTNL8	79908	broad.mit.edu	37	chr5	180335696	180335696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcagaggccatggaagtgCggttcttcaggggccagttc	8	9	15	9	1	2	1	1	0	1	1	3	2	2	2	2	5	2	3	2	5	1	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr5:180335696C>T	ENST00000231229.4	+	2	394	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	BTNL8_ENST00000508408.1_Missense_Mutation_p.R54W|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.R54W	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	54	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGGAAGTGCGGTTCTTCAG	0.562													34	110					0	0	0	0	T	180335696	C	T	180335696	3	4	34	1	0	0	0	0	1	0	0	0	1576	759	27	1	192	1	BTNL8	5	180335696	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	8854084	180335696	579564	110	6570											
EXOC2	55770	broad.mit.edu	37	chr6	562846	562846	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagctaatctctttatttCtatatgagaagaagcacaca	14	14	5	8	0	3	2	1	1	2	2	4	3	3	2	0	0	2	2	0	0	6	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:562846C>T	ENST00000230449.4	-	17	1925		c.e17-1		EXOC2_ENST00000448181.3_Splice_Site	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2						exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTCTTTATTTCTATATGAGAA	0.259													7	19					0	0	0	0	T	562846	C	T	562846	5	4	34	1	0	0	0	0	0	0	1	0	5339	927	32	2	1033	2	EXOC2	6	562846	Splice_Site	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08		562846	170552221	111	6571											
HIST1H4I	8294	broad.mit.edu	37	chr6	27107285	27107285	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtgttcctggagaacgtGatccgggacgccgtgaccta	9	8	14	10	4	0	3	0	2	0	1	2	5	2	4	4	3	1	1	4	3	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:27107285G>A	ENST00000354348.2	+	1	210	c.198G>A	c.(196-198)gtG>gtA	p.V66V	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	66					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						TGGAGAACGTGATCCGGGACG	0.647			T	BCL6	NHL								4	105					0	0	0	0	A	27107285	G	A	27107285	2	1	34	1	0	0	0	0	0	0	0	1	7223	1277	45	2		2	HIST1H4I	6	27107285	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	26544439	27107285	144007782	112	6572											
HLA-B	3106	broad.mit.edu	37	chr6	31323268	31323268	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcgccatcccgctgccAggtcagtgtgatctccgcag	5	9	11	16	3	2	1	1	1	1	0	6	1	4	1	5	1	1	2	5	1	0	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:31323268A>C	ENST00000412585.2	-	4	749	c.721T>G	c.(721-723)Tgg>Ggg	p.W241G		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B									p.W241R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCCCGCTGCCAGGTCAGTGTG	0.612									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				44	144					0	0	0	0	C	31323268	A	C	31323268	3	2	34	1	0	0	0	0	1	0	0	0	7246	188	7	5	383	5	HLA-B	6	31323268	Missense_Mutation	SNP	A	TCGA-BA-A6DJ-01A-11D-A30E-08	4215983	31323268	139791799	113	6573											
SKIV2L	6499	broad.mit.edu	37	chr6	31934589	31934589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacatgatgaagaggaGcttctctgagtttccctccc	9	10	12	10	0	1	4	0	3	1	1	4	7	3	7	2	3	1	2	2	3	1	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:31934589G>A	ENST00000375394.2	+	19	2419	c.2306G>A	c.(2305-2307)aGc>aAc	p.S769N	SKIV2L_ENST00000544581.1_Missense_Mutation_p.S576N	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	769						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						ATGAAGAGGAGCTTCTCTGAG	0.562													29	82					0	0	0	0	A	31934589	G	A	31934589	3	1	34	1	0	0	0	0	1	0	0	0	14447	971	34	4	2380	4	SKIV2L	6	31934589	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	611321	31934589	139180478	114	6574											
BTNL2	56244	broad.mit.edu	37	chr6	32364031	32364031	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatacacatgcacagcagggTaacggtgggatcggtcccac	11	7	12	11	2	0	0	0	0	0	0	2	1	1	1	1	4	4	3	1	4	3	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:32364031T>G	ENST00000454136.3	-	5	867	c.863A>C	c.(862-864)tAc>tCc	p.Y288S	BTNL2_ENST00000429232.2_Missense_Mutation_p.Y195S|BTNL2_ENST00000414363.1_Missense_Mutation_p.Y78S|BTNL2_ENST00000544175.1_Missense_Mutation_p.Y11S|BTNL2_ENST00000374995.3_Missense_Mutation_p.Y194S|BTNL2_ENST00000540315.1_Missense_Mutation_p.Y78S|BTNL2_ENST00000374993.1_Missense_Mutation_p.Y288S			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	288	Ig-like V-type 3.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CACAGCAGGGTAACGGTGGGA	0.552													18	32					0	0	0	0	G	32364031	T	G	32364031	3	3	34	1	0	0	0	0	1	0	0	0	1574	1638	57	5	512	5	BTNL2	6	32364031	Missense_Mutation	SNP	T	TCGA-BA-A6DJ-01A-11D-A30E-08	429442	32364031	138751036	115	6575											
STK38	11329	broad.mit.edu	37	chr6	36492197	36492197	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttctcttcaaacgaagaAactctgtttccttccgagca	10	14	6	11	2	3	1	1	0	2	1	6	3	5	1	2	0	3	3	2	0	3	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:36492197A>C	ENST00000229812.7	-	4	512	c.227T>G	c.(226-228)tTt>tGt	p.F76C		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	76	Interaction with S100B.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAAACGAAGAAACTCTGTTTC	0.398													27	66					0	0	0	0	C	36492197	A	C	36492197	3	2	34	1	0	0	0	0	1	0	0	0	15393	14	1	5	1214	5	STK38	6	36492197	Missense_Mutation	SNP	A	TCGA-BA-A6DJ-01A-11D-A30E-08	4128166	36492197	134622870	116	6576											
C6orf89	221477	broad.mit.edu	37	chr6	36867326	36867326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatgtcagagaaggcaattGaaaaatttatcagacagctg	16	9	10	6	0	2	3	2	1	0	2	2	4	2	3	0	1	1	3	0	1	5	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:36867326G>A	ENST00000480824.2	+	3	400	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000373685.1_Missense_Mutation_p.E36K|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000355190.3_Missense_Mutation_p.E43K			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	36						integral to membrane		p.E43*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GAAGGCAATTGAAAAATTTAT	0.443													23	75					0	0	0	0	A	36867326	G	A	36867326	3	1	34	1	0	0	0	0	1	0	0	0	2395	1291	45	2	133	2	C6orf89	6	36867326	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	375129	36867326	134247741	117	6577											
SIM1	6492	broad.mit.edu	37	chr6	100838258	100838258	+	Silent	SNP	A	A	T																															cagcttccgttggttattatAacagatgttcccttgtgtcc																										TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:100838258A>T	ENST00000369208.3	-	12	3062	c.2280T>A	c.(2278-2280)gtT>gtA	p.V760V	SIM1_ENST00000262901.4_Silent_p.V760V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	760	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGTTATTATAACAGATGTTC	0.378													25	108					0	0	0	0	T	100838258	A	T	100838258	2	4	34	1	0	0	0	0	0	0	0	1	14411	349	13	5		5	SIM1	6	100838258	Silent	SNP	A	TCGA-BA-A6DJ-01A-11D-A30E-08	63970932	100838258	70276809	118	6578	60	2									
SIM1	6492	broad.mit.edu	37	chr6	100838266	100838266	+	Missense_Mutation	SNP	T	T	G																															gttggttattataacagatgTtcccttgtgtccttgtgctg																										TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:100838266T>G	ENST00000369208.3	-	12	3054	c.2272A>C	c.(2272-2274)Aca>Cca	p.T758P	SIM1_ENST00000262901.4_Missense_Mutation_p.T758P			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	758	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATAACAGATGTTCCCTTGTGT	0.393													28	113					0	0	0	0	G	100838266	T	G	100838266	3	3	34	1	0	0	0	0	1	0	0	0	14411	1725	60	5	32	5	SIM1	6	100838266	Missense_Mutation	SNP	T	TCGA-BA-A6DJ-01A-11D-A30E-08	8	100838266	70276801	119	6579	60	2									
GRIK2	2898	broad.mit.edu	37	chr6	102074293	102074293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggggtggctgccatcttcGggccttcacacagctcatca	6	11	11	13	1	4	0	3	0	1	0	5	0	4	0	2	4	2	2	2	4	0	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:102074293G>A	ENST00000369138.1	+	3	812	c.322G>A	c.(322-324)Ggg>Agg	p.G108R	GRIK2_ENST00000413795.1_Missense_Mutation_p.G108R|GRIK2_ENST00000358361.3_Missense_Mutation_p.G108R|GRIK2_ENST00000369134.4_Missense_Mutation_p.G59R|GRIK2_ENST00000369137.3_Missense_Mutation_p.G108R|GRIK2_ENST00000318991.6_Missense_Mutation_p.G108R|GRIK2_ENST00000421544.1_Missense_Mutation_p.G108R	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	108					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGCCATCTTCGGGCCTTCACA	0.537													5	305					0	0	0	0	A	102074293	G	A	102074293	3	1	34	1	0	0	0	0	1	0	0	0	6824	1116	39	1	332	1	GRIK2	6	102074293	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1236027	102074293	69040774	120	6580											
REV3L	5980	broad.mit.edu	37	chr6	111628751	111628751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccttcaggttcacttcgcGaggagctggtagctttatgg	6	12	13	10	2	2	0	2	0	0	0	3	2	2	1	1	4	2	4	1	4	2	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:111628751G>A	ENST00000435970.1	-	33	9647	c.8831C>T	c.(8830-8832)tCg>tTg	p.S2944L	REV3L_ENST00000358835.3_Missense_Mutation_p.S3022L|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368802.3_Missense_Mutation_p.S3022L|REV3L_ENST00000368805.1_Missense_Mutation_p.S3022L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3022					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCACTTCGCGAGGAGCTGGT	0.423								DNA polymerases (catalytic subunits)					21	50					0	0	0	0	A	111628751	G	A	111628751	3	1	34	1	0	0	0	0	1	0	0	0	13322	1059	37	1	335	1	REV3L	6	111628751	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	9554458	111628751	59486316	121	6581											
RFX6	222546	broad.mit.edu	37	chr6	117240317	117240317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcttattagcagacataaGaaattttgctaaaaattggg	16	13	8	4	0	0	2	0	0	0	2	0	2	0	2	0	1	3	3	0	1	8	8			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:117240317G>A	ENST00000332958.2	+	11	1056	c.1040G>A	c.(1039-1041)aGa>aAa	p.R347K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	347					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCAGACATAAGAAATTTTGCT	0.308													18	63					0	0	0	0	A	117240317	G	A	117240317	3	1	34	1	0	0	0	0	1	0	0	0	13349	942	33	2	1082	2	RFX6	6	117240317	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	5611566	117240317	53874750	122	6582											
HEY2	23493	broad.mit.edu	37	chr6	126080335	126080335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagtgcctaacagaagttgCgcggtacctgagctccgtgg	9	8	14	10	3	0	3	0	1	0	2	1	3	1	3	3	2	5	3	3	2	3	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:126080335C>T	ENST00000368364.3	+	5	598	c.401C>T	c.(400-402)gCg>gTg	p.A134V	HEY2_ENST00000368365.1_Missense_Mutation_p.A88V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	134	Orange.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	p.A134V(2)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACAGAAGTTGCGCGGTACCTG	0.587													26	95					0	0	0	0	T	126080335	C	T	126080335	3	4	34	1	0	0	0	0	1	0	0	0	7129	768	27	1	419	1	HEY2	6	126080335	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	8840018	126080335	45034732	123	6583											
AHI1	54806	broad.mit.edu	37	chr6	135639718	135639718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggcttaaaggaggggatCgctcctttatctcaggaggc	9	9	14	9	1	1	0	1	0	1	0	4	3	2	3	1	6	0	2	1	6	3	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:135639718C>T	ENST00000367800.4	-	24	3581	c.3365G>A	c.(3364-3366)cGa>cAa	p.R1122Q	AHI1_ENST00000417892.2_Missense_Mutation_p.R476Q|AHI1_ENST00000457866.2_Missense_Mutation_p.R1122Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1122						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AGGAGGGGATCGCTCCTTTAT	0.388													3	4					0	0	0	0	T	135639718	C	T	135639718	3	4	34	1	0	0	0	0	1	0	0	0	413	884	31	1	241	1	AHI1	6	135639718	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	9559383	135639718	35475349	124	6584											
GRM1	2911	broad.mit.edu	37	chr6	146720619	146720619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caactacaagatcatcacaaCttgctttgcagtgagtctca	13	11	6	11	0	3	2	3	1	1	1	4	2	3	2	0	0	5	2	0	0	4	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:146720619C>T	ENST00000392299.2	+	8	2914	c.2444C>T	c.(2443-2445)aCt>aTt	p.T815I	GRM1_ENST00000492807.2_Missense_Mutation_p.T815I|GRM1_ENST00000361719.2_Missense_Mutation_p.T815I|GRM1_ENST00000282753.1_Missense_Mutation_p.T815I|GRM1_ENST00000355289.4_Missense_Mutation_p.T815I|GRM1_ENST00000507907.1_Missense_Mutation_p.T815I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	815					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATCATCACAACTTGCTTTGCA	0.468													28	66					0	0	0	0	T	146720619	C	T	146720619	3	4	34	1	0	0	0	0	1	0	0	0	6846	565	20	4	2470	4	GRM1	6	146720619	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	11080901	146720619	24394448	125	6585											
MYCT1	80177	broad.mit.edu	37	chr6	153043059	153043059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagaactggattttacCgccacagtggctgtgaacgt	11	10	10	10	2	1	2	1	1	0	1	1	3	1	3	2	2	4	1	2	2	4	2	rs17852097		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:153043059C>T	ENST00000367245.5	+	2	387	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	127			R -> G (in dbSNP:rs17852097).			nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TGGATTTTACCGCCACAGTGG	0.517													37	86					0	0	0	0	T	153043059	C	T	153043059	3	4	34	1	0	0	0	0	1	0	0	0	10092	652	23	1	385	1	MYCT1	6	153043059	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	6322440	153043059	18072008	126	6586											
MAP3K4	4216	broad.mit.edu	37	chr6	161508855	161508855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcagatgacgtactcatcGatgcctatctgcttctgacc	9	13	7	12	2	4	3	2	2	2	1	5	4	4	3	2	0	3	2	2	0	2	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr6:161508855G>A	ENST00000392142.4	+	10	2840	c.2692G>A	c.(2692-2694)Gat>Aat	p.D898N	MAP3K4_ENST00000348824.7_Missense_Mutation_p.D898N|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D898N|MAP3K4_ENST00000366919.2_Missense_Mutation_p.D898N	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	898					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CGTACTCATCGATGCCTATCT	0.507													4	98					0	0	0	0	A	161508855	G	A	161508855	3	1	34	1	0	0	0	0	1	0	0	0	9321	1058	37	1	2730	1	MAP3K4	6	161508855	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	8465796	161508855	9606212	127	6587											
RAC1	5879	broad.mit.edu	37	chr7	6426892	6426892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttacacaaccaatgcatttCctggagaatatatccctact	13	12	5	11	0	0	1	0	0	0	1	2	2	2	1	3	1	4	2	3	1	7	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:6426892C>T	ENST00000348035.4	+	2	298	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P29S	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353													10	45					0	0	0	0	T	6426892	C	T	6426892	3	4	34	1	0	0	0	0	1	0	0	0	13056	855	30	2	91	2	RAC1	7	6426892	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08		6426892	152711771	128	6588											
CRHR2	1395	broad.mit.edu	37	chr7	30702317	30702317	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggaccctcacaccatccGatgaagaggaagaggcactt	12	6	11	12	1	1	3	1	1	0	2	2	6	2	5	3	3	0	1	3	3	2	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:30702317G>A	ENST00000471646.1	-	6	1107	c.690C>T	c.(688-690)atC>atT	p.I230I	CRHR2_ENST00000506074.2_Silent_p.I230I|CRHR2_ENST00000348438.4_Silent_p.I257I|CRHR2_ENST00000341843.4_Silent_p.I216I	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	230					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACACCATCCGATGAAGAGGA	0.592													25	69					0	0	0	0	A	30702317	G	A	30702317	2	1	34	1	0	0	0	0	0	0	0	1	3902	1048	37	1		1	CRHR2	7	30702317	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	24275425	30702317	128436346	129	6589											
CAMK2B	816	broad.mit.edu	37	chr7	44280308	44280308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagaagaaaggctcacctGagaaattccgtgtggccagc	12	7	13	9	1	1	3	1	1	0	3	2	5	2	3	3	3	1	1	3	3	3	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:44280308G>A	ENST00000395749.2	-	12	1020	c.944C>T	c.(943-945)tCa>tTa	p.S315L	CAMK2B_ENST00000457475.1_Missense_Mutation_p.S315L|CAMK2B_ENST00000358707.3_Missense_Mutation_p.S315L|CAMK2B_ENST00000346990.4_Missense_Mutation_p.S315L|CAMK2B_ENST00000258682.6_Missense_Mutation_p.S315L|CAMK2B_ENST00000347193.4_Missense_Mutation_p.S315L|CAMK2B_ENST00000350811.3_Missense_Mutation_p.S315L|CAMK2B_ENST00000395747.2_Missense_Mutation_p.S315L|CAMK2B_ENST00000440254.2_Missense_Mutation_p.S315L|CAMK2B_ENST00000353625.4_Missense_Mutation_p.S315L|CAMK2B_ENST00000502837.2_Missense_Mutation_p.S186L	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	315					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGGCTCACCTGAGAAATTCCG	0.617													7	32					0	0	0	0	A	44280308	G	A	44280308	3	1	34	1	0	0	0	0	1	0	0	0	2625	1294	45	2	1107	2	CAMK2B	7	44280308	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	13577991	44280308	114858355	130	6590											
TNS3	64759	broad.mit.edu	37	chr7	47454793	47454793	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacaggagcccactgaggAactgaacatacctgcaaaac	15	4	10	12	1	0	2	0	2	0	0	0	5	0	5	2	3	6	1	2	3	5	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:47454793A>T	ENST00000398879.1	-	11	851	c.485T>A	c.(484-486)tTc>tAc	p.F162Y	TNS3_ENST00000442536.2_Missense_Mutation_p.F162Y|TNS3_ENST00000458317.2_Missense_Mutation_p.F162Y|TNS3_ENST00000355730.3_Missense_Mutation_p.F162Y|TNS3_ENST00000311160.9_Missense_Mutation_p.F162Y			Q68CZ2	TENS3_HUMAN	tensin 3	162	Phosphatase tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCCACTGAGGAACTGAACATA	0.532													7	25					0	0	0	0	T	47454793	A	T	47454793	3	4	34	1	0	0	0	0	1	0	0	0	16438	246	9	5	3936	5	TNS3	7	47454793	Missense_Mutation	SNP	A	TCGA-BA-A6DJ-01A-11D-A30E-08	3174485	47454793	111683870	131	6591											
GNAI1	2770	broad.mit.edu	37	chr7	79840284	79840284	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcatttctcctcttaacaGaatgtttgatgtgggaggtc	9	15	9	8	0	3	2	1	1	2	1	5	3	3	3	1	2	1	1	1	2	2	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:79840284G>C	ENST00000351004.3	+	6	963		c.e6-1		GNAI1_ENST00000457358.2_Splice_Site	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1						cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						CCTCTTAACAGAATGTTTGAT	0.398													24	64					0	0	0	0	C	79840284	G	C	79840284	5	2	34	1	0	0	0	0	0	0	1	0	6555	956	33	2	612	2	GNAI1	7	79840284	Splice_Site	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	32385491	79840284	79298379	132	6592											
GRM3	2913	broad.mit.edu	37	chr7	86415715	86415715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaggccaaagccatggctGagatcttgcgcttcttcaac	10	9	9	13	1	3	1	1	1	2	1	3	2	3	1	3	2	3	2	3	2	2	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:86415715G>A	ENST00000361669.2	+	3	1706	c.607G>A	c.(607-609)Gag>Aag	p.E203K	GRM3_ENST00000439827.1_Missense_Mutation_p.E203K|GRM3_ENST00000394720.2_Missense_Mutation_p.E201K|GRM3_ENST00000536043.1_Missense_Mutation_p.E75K|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	203					synaptic transmission	integral to plasma membrane		p.E203Q(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGCCATGGCTGAGATCTTGCG	0.582													45	94					0	0	0	0	A	86415715	G	A	86415715	3	1	34	1	0	0	0	0	1	0	0	0	6848	1291	45	2	613	2	GRM3	7	86415715	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	6575431	86415715	72722948	133	6593											
EPHB4	2050	broad.mit.edu	37	chr7	100421281	100421281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaccttgatgtaggggttCtccatccaggctggcgtgag	6	11	15	9	1	1	2	0	2	1	0	3	2	2	2	3	5	1	4	3	5	2	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:100421281C>T	ENST00000358173.3	-	3	864	c.396G>A	c.(394-396)gaG>gaA	p.E132E	EPHB4_ENST00000360620.3_Silent_p.E132E|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	132					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGTAGGGGTTCTCCATCCAGG	0.657													33	55					0	0	0	0	T	100421281	C	T	100421281	2	4	34	1	0	0	0	0	0	0	0	1	5215	912	32	2		2	EPHB4	7	100421281	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	14005566	100421281	58717382	134	6594											
MUC17	140453	broad.mit.edu	37	chr7	100675301	100675301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcatctcctactactcctGaaagcaccaccatacccaaa	13	9	3	16	0	2	1	1	1	1	0	4	1	3	1	5	0	4	2	5	0	5	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:100675301G>A	ENST00000306151.4	+	3	668	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	202	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACTACTCCTGAAAGCACCAC	0.458													10	305					0	0	0	0	A	100675301	G	A	100675301	3	1	34	1	0	0	0	0	1	0	0	0	10044	1291	45	2	614	2	MUC17	7	100675301	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	254020	100675301	58463362	135	6595			1	10		5	5	10398	N	G_C	6.538315e-06
MUC17	140453	broad.mit.edu	37	chr7	100678400	100678400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacgccagtggccagttctGaggctagcaccctttcaaca	10	8	9	14	1	2	1	1	1	1	0	2	1	2	1	3	2	2	3	3	2	2	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:100678400G>C	ENST00000306151.4	+	3	3767	c.3703G>C	c.(3703-3705)Gag>Cag	p.E1235Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1235	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.517													188	488					0	0	0	0	C	100678400	G	C	100678400	3	2	34	1	0	0	0	0	1	0	0	0	10044	1291	45	2	3713	2	MUC17	7	100678400	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	3099	100678400	58460263	136	6596			1	10		5	5	10398	N	G_C	6.538315e-06
MUC17	140453	broad.mit.edu	37	chr7	100684915	100684915	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattagcaagtatgcctgtCagcaccacgccggtggtcag	9	8	11	13	2	2	0	2	0	0	0	2	0	2	0	4	2	3	3	4	2	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:100684915C>T	ENST00000306151.4	+	3	10282	c.10218C>T	c.(10216-10218)gtC>gtT	p.V3406V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3406	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTATGCCTGTCAGCACCACGC	0.493													24	634					0	0	0	0	T	100684915	C	T	100684915	2	4	34	1	0	0	0	0	0	0	0	1	10044	813	29	2		2	MUC17	7	100684915	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	6515	100684915	58453748	137	6597			1	10		5	5	10398	N	G_C	6.538315e-06
MUC17	140453	broad.mit.edu	37	chr7	100684956	100684956	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgaggttaacaccctttCaacaactcctgtggactcca	10	12	6	13	0	2	1	1	1	1	0	4	2	4	2	3	2	3	1	3	2	3	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:100684956C>G	ENST00000306151.4	+	3	10323	c.10259C>G	c.(10258-10260)tCa>tGa	p.S3420*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3420	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACACCCTTTCAACAACTCCT	0.502													16	549					0	0	0	0	G	100684956	C	G	100684956	4	3	34	1	0	0	0	0	0	1	0	0	10044	838	29	2	10269	2	MUC17	7	100684956	Nonsense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	41	100684956	58453707	138	6598			1	10		5	5	10398	N	G_C	6.538315e-06
MUC17	140453	broad.mit.edu	37	chr7	100685698	100685698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaccagcacacctgtgatCacttctacccaagtcagttc	11	9	6	15	0	3	1	2	1	1	0	4	2	3	1	3	0	2	2	3	0	2	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:100685698C>T	ENST00000306151.4	+	3	11065	c.11001C>T	c.(10999-11001)atC>atT	p.I3667I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3667	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGTGATCACTTCTACCC	0.502													9	313					0	0	0	0	T	100685698	C	T	100685698	2	4	34	1	0	0	0	0	0	0	0	1	10044	816	29	2		2	MUC17	7	100685698	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	742	100685698	58452965	139	6599			1	10		5	5	10398	N	G_C	6.538315e-06
AKR1B10	57016	broad.mit.edu	37	chr7	134223689	134223689	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaactcctacctttccaggtCtttgactttaaattgagtga	10	15	7	9	0	1	3	0	3	1	0	3	4	3	3	3	1	2	0	3	1	4	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:134223689C>G	ENST00000359579.4	+	9	1148	c.828C>G	c.(826-828)gtC>gtG	p.V276V		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	276					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CTTTCCAGGTCTTTGACTTTA	0.483													4	57					0	0	0	0	G	134223689	C	G	134223689	2	3	34	1	0	0	0	0	0	0	0	1	467	900	32	2		2	AKR1B10	7	134223689	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	33537991	134223689	24914974	140	6600											
NUP205	23165	broad.mit.edu	37	chr7	135272633	135272633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatataaaaagaacccttttCatctggagcttgctctagaa	14	13	6	8	0	3	2	1	0	2	2	3	3	3	3	1	1	3	2	1	1	8	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:135272633C>T	ENST00000285968.6	+	10	1392	c.1366C>T	c.(1366-1368)Cat>Tat	p.H456Y	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	456					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAACCCTTTTCATCTGGAGCT	0.433													18	75					0	0	0	0	T	135272633	C	T	135272633	3	4	34	1	0	0	0	0	1	0	0	0	10830	826	29	2	1404	2	NUP205	7	135272633	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1048944	135272633	23866030	141	6601											
NUP205	23165	broad.mit.edu	37	chr7	135272678	135272678	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtcccacagagcctcttCagactccgactatcatgggc	8	9	10	14	1	3	2	2	0	1	2	5	3	5	2	3	2	1	0	3	2	1	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:135272678C>T	ENST00000285968.6	+	10	1437	c.1411C>T	c.(1411-1413)Cag>Tag	p.Q471*	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	471					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGAGCCTCTTCAGACTCCGAC	0.468													14	66					0	0	0	0	T	135272678	C	T	135272678	4	4	34	1	0	0	0	0	0	1	0	0	10830	827	29	2	1449	2	NUP205	7	135272678	Nonsense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	45	135272678	23865985	142	6602											
TRPV6	55503	broad.mit.edu	37	chr7	142571366	142571366	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtagttggctgggccatcGatgatggtaaggaacagctc	9	11	14	7	1	0	1	0	1	0	0	2	3	0	2	1	4	2	5	1	4	3	4	rs147746494		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:142571366G>A	ENST00000359396.3	-	13	1868	c.1623C>T	c.(1621-1623)atC>atT	p.I541I		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	541					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGGGCCATCGATGATGGTAA	0.542													112	106					0	0	0	0	A	142571366	G	A	142571366	2	1	34	1	0	0	0	0	0	0	0	1	16695	1048	37	1		1	TRPV6	7	142571366	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	7298688	142571366	16567297	143	6603											
FAM115C	285966	broad.mit.edu	37	chr7	143421718	143421718	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagagcgagagaggagaatCaaggcccacctgggaaaggg	14	2	16	9	1	1	3	1	0	0	3	1	7	1	4	3	4	1	0	3	4	3	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:143421718C>G	ENST00000441159.2	+	7	2499	c.2433C>G	c.(2431-2433)atC>atG	p.I811M	FAM115C_ENST00000411935.1_Missense_Mutation_p.I707M|FAM115C_ENST00000409703.3_Missense_Mutation_p.I707M|FAM115C_ENST00000411497.2_Missense_Mutation_p.I530M|FAM115C_ENST00000357344.4_Missense_Mutation_p.I811M|FAM115C_ENST00000444908.2_Missense_Mutation_p.I811M|FAM115C_ENST00000425618.2_Missense_Mutation_p.I530M			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	811										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						AGAGGAGAATCAAGGCCCACC	0.567													12	47					0	0	0	0	G	143421718	C	G	143421718	3	3	34	1	0	0	0	0	1	0	0	0	5447	816	29	2	2774	2	FAM115C	7	143421718	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	850352	143421718	15716945	144	6604											
OR2A7	401427	broad.mit.edu	37	chr7	143955990	143955990	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaagagtccaatcacacaGaggtgggagaagcaggtgca	16	5	13	7	0	1	3	1	0	0	3	2	4	2	3	1	3	2	2	1	3	4	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:143955990G>A	ENST00000493325.1	-	1	825	c.732C>T	c.(730-732)ctC>ctT	p.L244L	RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000463561.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CAATCACACAGAGGTGGGAGA	0.453													39	417					0	0	0	0	A	143955990	G	A	143955990	2	1	34	1	0	0	0	0	0	0	0	1	11053	929	33	2		2	OR2A7	7	143955990	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	534272	143955990	15182673	145	6605											
EZH2	2146	broad.mit.edu	37	chr7	148525892	148525892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcaggatcgtctccatCatcatcatcgtcatcatcat	9	15	4	13	2	9	0	7	0	2	0	12	1	9	1	1	1	0	0	1	1	0	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr7:148525892C>T	ENST00000320356.2	-	6	686	c.565G>A	c.(565-567)Gat>Aat	p.D189N	EZH2_ENST00000478654.1_Missense_Mutation_p.D180N|EZH2_ENST00000476773.1_Missense_Mutation_p.D180N|EZH2_ENST00000460911.1_Missense_Mutation_p.D189N|EZH2_ENST00000350995.2_Missense_Mutation_p.D150N|EZH2_ENST00000536783.1_Missense_Mutation_p.D80N|EZH2_ENST00000541220.1_Missense_Mutation_p.D180N|EZH2_ENST00000483967.1_Missense_Mutation_p.D180N	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	189	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCGTCTCcatcatcatcatcg	0.393			Mis		DLBCL								6	65					0	0	0	0	T	148525892	C	T	148525892	3	4	34	1	0	0	0	0	1	0	0	0	5372	826	29	2	1750	2	EZH2	7	148525892	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	4569902	148525892	10612771	146	6606											
LOXL2	4017	broad.mit.edu	37	chr8	23190959	23190959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgagggtccgtcagggctGaagacctgcccaggcacaca	9	6	13	13	1	1	3	1	2	0	1	2	3	2	3	3	3	1	2	3	3	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:23190959G>A	ENST00000389131.3	-	5	1290	c.921C>T	c.(919-921)ttC>ttT	p.F307F	LOXL2_ENST00000518472.1_5'UTR	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	307					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGTCAGGGCTGAAGACCTGCC	0.632													32	101					0	0	0	0	A	23190959	G	A	23190959	2	1	34	1	0	0	0	0	0	0	0	1	8964	1281	45	2		2	LOXL2	8	23190959	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08		23190959	123173063	147	6607											
ADAM28	10863	broad.mit.edu	37	chr8	24207413	24207413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtgctgttcccaatggCggtcatttttgtggtggttg	3	16	16	6	1	1	0	1	0	0	0	2	0	2	0	1	6	1	3	1	6	1	4	rs139883608	by1000genomes	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:24207413C>T	ENST00000265769.4	+	19	2137	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G424G	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	676					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.A676V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTCCCAATGGCGGTCATTTTT	0.502													41	140					0	0	0	0	T	24207413	C	T	24207413	3	4	34	1	0	0	0	0	1	0	0	0	246	768	27	1	2157	1	ADAM28	8	24207413	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1016454	24207413	122156609	148	6608											
PPP2CB	5516	broad.mit.edu	37	chr8	30669897	30669898	+	Frame_Shift_Ins	INS	-	-	C																															acactcgttcagctgctcgaINScccactggtccagctccttg																										TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:30669897_30669898insC	ENST00000221138.4	-	1	490_491	c.40_41insG	c.(40-42)cgafs	p.R14fs	PPP2CB_ENST00000520500.1_Intron|PPP2CB_ENST00000518564.1_Frame_Shift_Ins_p.R14fs	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	14					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	CAGCTGCTCGACCCACTGGTCC	0.708													10	26	---	---	---	---					C	30669898	-	C	30669897	7	5	34	1	0	1	1	0	0	0	0	0	12457	275	10	0	916	0	PPP2CB	8	30669897	Frame_Shift_Ins	INS	-	TCGA-BA-A6DJ-01A-11D-A30E-08	6462484	30669897	115694125	149	6609											
EYA1	2138	broad.mit.edu	37	chr8	72184108	72184108	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatctttaatgggtgttGatgggctgtggattgtgctg	6	16	15	4	0	1	2	0	2	1	0	1	3	1	3	0	3	1	3	0	3	2	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:72184108G>T	ENST00000340726.3	-	10	1490	c.851C>A	c.(850-852)tCa>tAa	p.S284*	EYA1_ENST00000388741.2_Nonsense_Mutation_p.S250*|EYA1_ENST00000303824.7_Nonsense_Mutation_p.S278*|EYA1_ENST00000388742.4_Nonsense_Mutation_p.S284*|EYA1_ENST00000388743.2_Nonsense_Mutation_p.S283*|EYA1_ENST00000419131.1_Nonsense_Mutation_p.S279*|EYA1_ENST00000388740.3_Nonsense_Mutation_p.S251*	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	284					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AATGGGTGTTGATGGGCTGTG	0.448													10	322					0.000673444	0.000682056	1	0	T	72184108	G	T	72184108	4	4	34	1	0	0	0	0	0	1	0	0	5366	1294	45	2	963	2	EYA1	8	72184108	Nonsense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	41514211	72184108	74179914	150	6610											
ZFHX4	79776	broad.mit.edu	37	chr8	77617325	77617325	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaaagaacctcttataagCtttctggaaccaaaaaaatc	18	9	5	9	0	2	1	0	0	2	1	3	3	2	2	2	1	3	1	2	1	8	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:77617325C>G	ENST00000521891.2	+	2	1450	c.1002C>G	c.(1000-1002)agC>agG	p.S334R	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S334R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S334R|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S334R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	334						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCTTATAAGCTTTCTGGAAC	0.448										HNSCC(33;0.089)			23	100					0	0	0	0	G	77617325	C	G	77617325	3	3	34	1	0	0	0	0	1	0	0	0	17730	796	28	4	1004	4	ZFHX4	8	77617325	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	5433217	77617325	68746697	151	6611											
PKHD1L1	93035	broad.mit.edu	37	chr8	110519954	110519954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagaggaaatcttttcttaGagacatagatggctcctttc	12	13	8	8	0	2	3	0	0	2	3	4	5	3	4	1	2	0	1	1	2	4	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:110519954G>C	ENST00000378402.5	+	69	11161	c.11057G>C	c.(11056-11058)aGa>aCa	p.R3686T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3686					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTTTCTTAGAGACATAGAT	0.408										HNSCC(38;0.096)			20	58					0	0	0	0	C	110519954	G	C	110519954	3	2	34	1	0	0	0	0	1	0	0	0	12044	942	33	2	11331	2	PKHD1L1	8	110519954	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	32902629	110519954	35844068	152	6612											
COL14A1	7373	broad.mit.edu	37	chr8	121220601	121220601	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggggaactgaaactacacGtatgtatttaattctacccc	13	11	7	10	2	1	1	0	1	1	0	1	2	1	2	2	2	4	2	2	2	7	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:121220601G>A	ENST00000297848.3	+	11	1591		c.e11+1		COL14A1_ENST00000432943.2_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000537875.1_Splice_Site	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GAAACTACACGTATGTATTTA	0.403													22	36					0	0	0	0	A	121220601	G	A	121220601	5	1	34	1	0	0	0	0	0	0	1	0	3701	1159	40	1	1360	1	COL14A1	8	121220601	Splice_Site	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	10700647	121220601	25143421	153	6613											
ADCY8	114	broad.mit.edu	37	chr8	132052561	132052561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctgcctgtaaggcagcGcacatcggagagctccatgg	8	7	13	13	3	0	1	0	0	0	1	3	2	1	1	2	3	3	5	2	3	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:132052561G>A	ENST00000286355.5	-	1	2111	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	ADCY8_ENST00000377928.3_Missense_Mutation_p.R7C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	7					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTAAGGCAGCGCACATCGGAG	0.692										HNSCC(32;0.087)			14	23					0	0	0	0	A	132052561	G	A	132052561	3	1	34	1	0	0	0	0	1	0	0	0	300	1087	38	1	3808	1	ADCY8	8	132052561	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	10831960	132052561	14311461	154	6614											
GPR20	2843	broad.mit.edu	37	chr8	142367229	142367229	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcatgtcgggccacagCgccacggccacttggcgggc	5	6	16	14	4	0	0	0	0	0	0	1	0	0	0	3	5	1	1	3	5	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr8:142367229C>T	ENST00000377741.3	-	2	885	c.795G>A	c.(793-795)gcG>gcA	p.A265A		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	265						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGGGCCACAGCGCCACGGCCA	0.657													4	50					0	0	0	0	T	142367229	C	T	142367229	2	4	34	1	0	0	0	0	0	0	0	1	6729	755	27	1		1	GPR20	8	142367229	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	10314668	142367229	3996793	155	6615											
IFNA4	3441	broad.mit.edu	37	chr9	21186980	21186980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaatccttcctccttaatCttttttgcaagtttgttgaa	8	20	4	9	0	2	1	1	1	1	0	5	1	5	1	3	0	1	3	3	0	4	8			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:21186980C>G	ENST00000421715.1	-	1	618	c.551G>C	c.(550-552)aGa>aCa	p.R184T		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	184					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTCCTTAATCTTTTTTGCAA	0.388													7	327					0	0	0	0	G	21186980	C	G	21186980	3	3	34	1	0	0	0	0	1	0	0	0	7592	913	32	2	22	2	IFNA4	9	21186980	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08		21186980	120026451	156	6616											
LINGO2	158038	broad.mit.edu	37	chr9	27949845	27949845	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggagaggttaaggtgagtCaggtataccaggtgtttaaa	13	11	14	3	0	1	2	1	1	0	1	1	3	1	2	1	5	1	3	1	5	6	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:27949845C>G	ENST00000379992.2	-	6	1274	c.825G>C	c.(823-825)ctG>ctC	p.L275L	LINGO2_ENST00000308675.3_Silent_p.L275L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	275						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TAAGGTGAGTCAGGTATACCA	0.502													29	176					0	0	0	0	G	27949845	C	G	27949845	2	3	34	1	0	0	0	0	0	0	0	1	8870	813	29	2		2	LINGO2	9	27949845	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	6762865	27949845	113263586	157	6617											
CCL19	6363	broad.mit.edu	37	chr9	34691101	34691101	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttacctggggaagtccaGagaaccagcaggctgagggc	10	5	15	11	0	0	2	0	1	0	1	1	4	1	3	4	4	3	2	4	4	3	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:34691101G>C	ENST00000311925.2	-	1	173	c.36C>G	c.(34-36)ctC>ctG	p.L12L	CCL19_ENST00000378800.3_Silent_p.L12L	NM_006274.2	NP_006265.1	Q99731	CCL19_HUMAN	chemokine (C-C motif) ligand 19	12					activation of JUN kinase activity|cell communication|cell maturation|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|interleukin-12 secretion|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of Cdc42 GTPase activity|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB import into nucleus|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of receptor-mediated endocytosis|positive regulation of T cell proliferation|positive regulation of T-helper 1 cell differentiation|positive regulation of tumor necrosis factor production|regulation of cell projection assembly|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|response to virus|T cell costimulation	extracellular space	CCR10 chemokine receptor binding|CCR7 chemokine receptor binding|chemokine activity					all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GGGAAGTCCAGAGAACCAGCA	0.602													14	16					0	0	0	0	C	34691101	G	C	34691101	2	2	34	1	0	0	0	0	0	0	0	1	2917	929	33	2		2	CCL19	9	34691101	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	6741256	34691101	106522330	158	6618											
C9orf131	138724	broad.mit.edu	37	chr9	35043437	35043437	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggatggcccccgatcctCagctgcttccacctccatct	7	9	8	17	1	2	0	1	0	1	0	5	2	5	1	6	2	2	2	6	2	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:35043437C>T	ENST00000312292.5	+	2	858	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	C9orf131_ENST00000354479.5_Nonsense_Mutation_p.Q198*|C9orf131_ENST00000421362.2_Nonsense_Mutation_p.Q223*	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	271										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CCCCGATCCTCAGCTGCTTCC	0.547													6	174					0	0	0	0	T	35043437	C	T	35043437	4	4	34	1	0	0	0	0	0	1	0	0	2482	827	29	2	833	2	C9orf131	9	35043437	Nonsense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	352336	35043437	106169994	159	6619											
CNTNAP3	79937	broad.mit.edu	37	chr9	39133006	39133006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctccgccaggttcaccgcgGaccgcagctgccccgcgccc	4	4	12	21	6	1	0	1	0	0	0	2	1	2	1	7	2	2	4	7	2	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:39133006G>A	ENST00000297668.6	-	13	2076	c.2003C>T	c.(2002-2004)tCc>tTc	p.S668F	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.S574F|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S667F|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.S667F|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S580F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	668	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTTCACCGCGGACCGCAGCTG	0.761													6	9					0	0	0	0	A	39133006	G	A	39133006	3	1	34	1	0	0	0	0	1	0	0	0	3678	1174	41	2	1911	2	CNTNAP3	9	39133006	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	4089569	39133006	102080425	160	6620											
C9orf153	389766	broad.mit.edu	37	chr9	88842265	88842265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tatttatttatttatttttgGagatggggtctttctatgtt	7	24	8	2	0	2	1	0	0	2	1	2	2	2	1	0	3	0	1	0	3	5	12			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:88842265G>C	ENST00000376001.3	-	4	369	c.289C>G	c.(289-291)Cca>Gca	p.P97A	C9orf153_ENST00000469914.1_Intron|C9orf153_ENST00000339137.3_Intron	NM_001276366.1	NP_001263295.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	97										breast(1)|lung(1)	2						tttatttttggagatggggtc	0.358													18	24					0	0	0	0	C	88842265	G	C	88842265	3	2	34	1	0	0	0	0	1	0	0	0	2489	1174	41	2	20	2	C9orf153	9	88842265	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	49709259	88842265	52371166	161	6621											
OR13C9	286362	broad.mit.edu	37	chr9	107379601	107379601	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttgtttctaagactgtaGattaaaggattcatcatggg	11	15	9	6	0	3	2	2	0	1	2	4	3	4	3	1	2	0	2	1	2	4	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:107379601G>A	ENST00000259362.1	-	1	884	c.885C>T	c.(883-885)atC>atT	p.I295I		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TAAGACTGTAGATTAAAGGAT	0.393													45	176					0	0	0	0	A	107379601	G	A	107379601	2	1	34	1	0	0	0	0	0	0	0	1	11010	932	33	2		2	OR13C9	9	107379601	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	18537336	107379601	33833830	162	6622											
RAD23B	5887	broad.mit.edu	37	chr9	110091856	110091856	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatttcctgaaggacttgtGatacaagcgtattttgcttg	9	15	11	6	1	0	2	0	2	0	0	1	4	1	4	1	2	3	2	1	2	4	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:110091856G>C	ENST00000358015.3	+	10	1500	c.1149G>C	c.(1147-1149)gtG>gtC	p.V383V	RAD23B_ENST00000416373.2_Silent_p.V311V	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	383	UBA 2.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	p.V383V(1)		breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAGGACTTGTGATACAAGCGT	0.318								Direct reversal of damage;Nucleotide excision repair (NER)					40	65					0	0	0	0	C	110091856	G	C	110091856	2	2	34	1	0	0	0	0	0	0	0	1	13065	1277	45	2		2	RAD23B	9	110091856	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	2712255	110091856	31121575	163	6623											
OLFML2A	169611	broad.mit.edu	37	chr9	127549502	127549502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaactcaaaaagcaggcGcccgagctcctcaaggtaga	15	4	11	11	2	2	2	2	0	0	2	3	4	3	2	2	2	3	3	2	2	5	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:127549502G>A	ENST00000373580.3	+	2	339	c.339G>A	c.(337-339)gcG>gcA	p.A113A		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	113								p.A113A(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AAAAGCAGGCGCCCGAGCTCC	0.572													20	49					0	0	0	0	A	127549502	G	A	127549502	2	1	34	1	0	0	0	0	0	0	0	1	10928	1074	38	1		1	OLFML2A	9	127549502	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	17457646	127549502	13663929	164	6624											
LMX1B	4010	broad.mit.edu	37	chr9	129376761	129376761	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaggtcccgagtcgctggaGaggtgcttccctcgcgggca	6	7	15	13	4	0	1	0	0	0	1	4	3	2	1	2	4	1	3	2	4	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:129376761G>C	ENST00000355497.5	+	1	40	c.33G>C	c.(31-33)gaG>gaC	p.E11D	LMX1B_ENST00000425646.2_5'UTR|LMX1B_ENST00000526117.1_Missense_Mutation_p.E11D|LMX1B_ENST00000561065.1_5'UTR|LMX1B_ENST00000373474.4_Missense_Mutation_p.E11D	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	0					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AGTCGCTGGAGAGGTGCTTCC	0.731									Nail-Patella Syndrome				10	17					0	0	0	0	C	129376761	G	C	129376761	3	2	34	1	0	0	0	0	1	0	0	0	8917	933	33	2	35	2	LMX1B	9	129376761	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1827259	129376761	11836670	165	6625											
SLC25A25	114789	broad.mit.edu	37	chr9	130863668	130863668	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagcaggcagaaaaaattCtcaagaggtgagtgctcagc	16	6	11	8	0	2	3	2	1	1	2	3	3	2	3	0	2	4	3	0	2	5	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:130863668C>G	ENST00000373066.5	+	3	834	c.427C>G	c.(427-429)Ctc>Gtc	p.L143V	SLC25A25_ENST00000432073.2_Missense_Mutation_p.L143V|SLC25A25_ENST00000373069.5_Missense_Mutation_p.L157V|SLC25A25_ENST00000373068.2_Missense_Mutation_p.L157V|SLC25A25_ENST00000373064.5_Missense_Mutation_p.L123V|SLC25A25_ENST00000433501.1_Missense_Mutation_p.L20V	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	123	EF-hand 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						AGAAAAAATTCTCAAGAGGTG	0.537													5	64					0	0	0	0	G	130863668	C	G	130863668	3	3	34	1	0	0	0	0	1	0	0	0	14576	913	32	2	865	2	SLC25A25	9	130863668	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1486907	130863668	10349763	166	6626											
ODF2	4957	broad.mit.edu	37	chr9	131256853	131256853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgacatcctgaagatcaCggaggcgaagctggctgagt	10	7	13	11	2	1	4	1	3	0	1	2	6	2	5	2	3	1	2	2	3	2	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:131256853C>T	ENST00000303890.5	+	19	2330	c.1745C>T	c.(1744-1746)aCg>aTg	p.T582M	ODF2_ENST00000448249.3_Missense_Mutation_p.T525M|ODF2_ENST00000434106.2_Missense_Mutation_p.T606M|ODF2_ENST00000444119.2_Missense_Mutation_p.T582M|ODF2_ENST00000393533.2_Missense_Mutation_p.T606M|ODF2_ENST00000372791.3_Missense_Mutation_p.T587M|ODF2_ENST00000372807.5_Missense_Mutation_p.T601M|ODF2_ENST00000351030.3_Missense_Mutation_p.T601M|ODF2_ENST00000546203.1_Missense_Mutation_p.T587M|ODF2_ENST00000372796.4_Missense_Mutation_p.T606M|ODF2_ENST00000372814.3_Missense_Mutation_p.T650M	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	606					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CTGAAGATCACGGAGGCGAAG	0.567													33	70					0	0	0	0	T	131256853	C	T	131256853	3	4	34	1	0	0	0	0	1	0	0	0	10898	536	19	1	1934	1	ODF2	9	131256853	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	393185	131256853	9956578	167	6627											
FAM78A	286336	broad.mit.edu	37	chr9	134151451	134151451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctttcacatcaatcaccGtgatcccttcccggaagact	10	10	7	14	2	3	2	3	1	0	1	5	3	5	3	3	2	0	1	3	2	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:134151451G>A	ENST00000372271.3	-	1	483	c.116C>T	c.(115-117)aCg>aTg	p.T39M		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	39										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		ATCAATCACCGTGATCCCTTC	0.602													35	48					0	0	0	0	A	134151451	G	A	134151451	3	1	34	1	0	0	0	0	1	0	0	0	5672	1145	40	1	743	1	FAM78A	9	134151451	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	2894598	134151451	7061980	168	6628											
MAMDC4	158056	broad.mit.edu	37	chr9	139748249	139748249	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgtggctgaactgcgggtgGagctgacccatggcgcagag	8	7	17	9	2	0	3	0	2	0	1	0	4	0	4	1	4	3	3	1	4	1	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:139748249G>C	ENST00000445819.1	+	5	525	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	MAMDC4_ENST00000317446.2_Missense_Mutation_p.E159Q|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	159	MAM 1.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ACTGCGGGTGGAGCTGACCCA	0.706													22	56					0	0	0	0	C	139748249	G	C	139748249	3	2	34	1	0	0	0	0	1	0	0	0	9273	1175	41	2	493	2	MAMDC4	9	139748249	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	5596798	139748249	1465182	169	6629											
FBXW5	54461	broad.mit.edu	37	chr9	139837261	139837261	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgccggatgaggagttgtgCggccccaggaacacccccga	8	5	14	14	4	0	1	0	1	0	0	1	5	0	4	5	4	2	1	5	4	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr9:139837261C>T	ENST00000325285.3	-	4	565	c.486G>A	c.(484-486)ccG>ccA	p.P162P	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	162							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		AGGAGTTGTGCGGCCCCAGGA	0.662													5	100					0	0	0	0	T	139837261	C	T	139837261	2	4	34	1	0	0	0	0	0	0	0	1	5813	755	27	1		1	FBXW5	9	139837261	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	89012	139837261	1376170	170	6630											
DIP2C	22982	broad.mit.edu	37	chr10	408579	408579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggttttggggagggtgtttGctggcaccaaggccaggcaa	7	9	18	7	0	0	0	0	0	0	0	0	1	0	1	2	7	1	5	2	7	2	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:408579G>T	ENST00000280886.6	-	22	2732	c.2645C>A	c.(2644-2646)gCa>gAa	p.A882E	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.A203E	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	882						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GAGGGTGTTTGCTGGCACCAA	0.443													18	70					1.33834e-09	1.40579e-09	1	0	T	408579	G	T	408579	3	4	34	1	0	0	0	0	1	0	0	0	4566	1319	46	4	2089	4	DIP2C	10	408579	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08		408579	135126168	171	6631											
SEC61A2	55176	broad.mit.edu	37	chr10	12191690	12191690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgaagttggagatacacCgaaagatagagctttattca	15	11	9	6	1	1	4	1	1	0	3	1	6	1	4	1	1	2	2	1	1	5	7	rs146484607		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:12191690C>T	ENST00000379033.3	+	4	398	c.251C>T	c.(250-252)cCg>cTg	p.P84L	SEC61A2_ENST00000298428.9_Missense_Mutation_p.P106L|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379017.3_Missense_Mutation_p.P106L|SEC61A2_ENST00000379020.4_Missense_Mutation_p.P106L|SEC61A2_ENST00000304267.8_Missense_Mutation_p.P106L|SEC61A2_ENST00000379051.1_Missense_Mutation_p.P106L	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	106						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGAGATACACCGAAAGATAGA	0.393													18	87					0	0	0	0	T	12191690	C	T	12191690	3	4	34	1	0	0	0	0	1	0	0	0	14088	652	23	1	335	1	SEC61A2	10	12191690	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	11783111	12191690	123343057	172	6632											
PARD3	56288	broad.mit.edu	37	chr10	34671826	34671826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaatgatgggtgtacgcatGgcttggcgaaacatatgttg	11	11	13	6	2	0	1	0	1	0	0	0	2	0	1	0	3	2	4	0	3	4	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:34671826G>A	ENST00000374789.3	-	9	1366	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	PARD3_ENST00000374788.3_Silent_p.A347A|PARD3_ENST00000374773.1_Silent_p.A347A|PARD3_ENST00000374790.3_Silent_p.A303A|PARD3_ENST00000545693.1_Silent_p.A347A|PARD3_ENST00000545260.1_Silent_p.A303A|PARD3_ENST00000544292.1_Silent_p.A77A|PARD3_ENST00000374776.1_Silent_p.A347A|PARD3_ENST00000374794.3_Silent_p.A303A|PARD3_ENST00000340077.5_Silent_p.A347A|PARD3_ENST00000346874.4_Silent_p.A347A|PARD3_ENST00000350537.4_Silent_p.A347A	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	347	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTGTACGCATGGCTTGGCGAA	0.378													37	106					0	0	0	0	A	34671826	G	A	34671826	2	1	34	1	0	0	0	0	0	0	0	1	11514	1335	47	4		4	PARD3	10	34671826	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	22480136	34671826	100862921	173	6633											
ATOH7	220202	broad.mit.edu	37	chr10	69991147	69991147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaatcgctcggcctcggcCaggatccgggtcagagccat	7	6	13	15	5	1	1	1	0	0	1	5	3	2	2	5	4	1	1	5	4	1	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:69991147C>T	ENST00000373673.3	-	1	724	c.288G>A	c.(286-288)ctG>ctA	p.L96L		NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	96					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CGGCCTCGGCCAGGATCCGGG	0.647													6	36					0	0	0	0	T	69991147	C	T	69991147	2	4	34	1	0	0	0	0	0	0	0	1	1117	581	21	4		4	ATOH7	10	69991147	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	35319321	69991147	65543600	174	6634											
UNC5B	219699	broad.mit.edu	37	chr10	73039771	73039771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcagccagaacgaccaCgtcacacaggaaggcctgga	12	4	13	12	2	2	1	2	0	0	1	2	4	2	3	3	4	2	0	3	4	2	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:73039771C>T	ENST00000335350.6	+	2	689	c.273C>T	c.(271-273)caC>caT	p.H91H	UNC5B_ENST00000373192.4_Silent_p.H91H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	91	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGAACGACCACGTCACACAGG	0.642													39	117					0	0	0	0	T	73039771	C	T	73039771	2	4	34	1	0	0	0	0	0	0	0	1	17088	535	19	1		1	UNC5B	10	73039771	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	3048624	73039771	62494976	175	6635											
P4HA1	5033	broad.mit.edu	37	chr10	74831832	74831832	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctccaactcactccactCagtattcagacgtttcatta	11	14	3	13	1	5	1	4	0	1	1	7	1	6	1	2	0	1	2	2	0	3	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:74831832C>A	ENST00000412021.2	-	5	613	c.280G>T	c.(280-282)Gag>Tag	p.E94*	P4HA1_ENST00000440381.1_Nonsense_Mutation_p.E94*|RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000394890.2_Nonsense_Mutation_p.E94*|P4HA1_ENST00000307116.2_Nonsense_Mutation_p.E94*|P4HA1_ENST00000373008.2_Nonsense_Mutation_p.E94*|P4HA1_ENST00000263556.3_Nonsense_Mutation_p.E94*	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	94						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCACTCCACTCAGTATTCAGA	0.388													38	156					4.0492e-12	4.29888e-12	1	0	A	74831832	C	A	74831832	4	1	34	1	0	0	0	0	0	1	0	0	11427	835	29	2	1447	2	P4HA1	10	74831832	Nonsense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1792061	74831832	60702915	176	6636											
TBC1D12	23232	broad.mit.edu	37	chr10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggccgccacccacccccaGatggtgggtccggaggatgc	6	4	15	16	3	0	1	0	0	0	1	1	3	1	3	6	5	1	0	6	5	0	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697													13	28					0	0	0	0	A	96162370	G	A	96162370	1	1	34	1	0	0	0	0	0	0	0	0	15692	957	33	2		2	TBC1D12	10	96162370	Translation_Start_Site	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	21330538	96162370	39372377	177	6637											
CPN1	1369	broad.mit.edu	37	chr10	101829594	101829594	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccactccatttgcattgttCctgccaactagatacccagg	9	12	6	14	0	0	1	0	0	0	1	3	1	3	1	5	1	4	2	5	1	3	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:101829594C>T	ENST00000370418.3	-	3	704	c.453G>A	c.(451-453)agG>agA	p.R151R		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	151	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TTGCATTGTTCCTGCCAACTA	0.418													24	68					0	0	0	0	T	101829594	C	T	101829594	2	4	34	1	0	0	0	0	0	0	0	1	3839	854	30	2		2	CPN1	10	101829594	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	5667224	101829594	33705153	178	6638											
ATRNL1	26033	broad.mit.edu	37	chr10	117704258	117704258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggagtccggaatcgaaaaCacctttcaacacgtcaagga	14	7	9	11	3	2	0	2	0	0	0	4	4	3	3	2	3	2	0	2	3	5	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr10:117704258C>T	ENST00000355044.3	+	29	4234	c.4108C>T	c.(4108-4110)Cac>Tac	p.H1370Y	ATRNL1_ENST00000423111.2_Missense_Mutation_p.H421Y|ATRNL1_ENST00000303745.7_Missense_Mutation_p.H163Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1370						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GAATCGAAAACACCTTTCAAC	0.418													26	85					0	0	0	0	T	117704258	C	T	117704258	3	4	34	1	0	0	0	0	1	0	0	0	1211	478	17	4	4222	4	ATRNL1	10	117704258	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	15874664	117704258	17830489	179	6639											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	5	9	14	13	3	0	0	0	0	0	0	3	1	3	1	4	5	1	4	4	5	2	2	rs121913233		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:533874T>A	ENST00000417302.1	-	3	369	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			48	122					0	0	0	0	A	533874	T	A	533874	3	1	34	1	0	0	0	0	1	0	0	0	7398	1580	55	5	466	5	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-BA-A6DJ-01A-11D-A30E-08		533874	134472642	180	6640											
OR51B6	390058	broad.mit.edu	37	chr11	5373015	5373015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcacagggagattggccatgGagcctgcttctctcaggcct	7	10	12	12	0	3	1	2	0	1	1	4	3	3	2	3	4	2	1	3	4	0	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:5373015G>C	ENST00000380219.1	+	1	278	c.278G>C	c.(277-279)gGa>gCa	p.G93A	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGGCCATGGAGCCTGCTTC	0.488													32	59					0	0	0	0	C	5373015	G	C	5373015	3	2	34	1	0	0	0	0	1	0	0	0	11163	1174	41	2	280	2	OR51B6	11	5373015	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	4839141	5373015	129633501	181	6641											
TRIM5	85363	broad.mit.edu	37	chr11	5699628	5699628	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctctcagttgctcaaaatCtgccaagacgttggttttgt	8	15	9	9	1	4	1	2	0	2	1	5	1	4	1	1	1	2	4	1	1	3	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:5699628C>G	ENST00000305836.5	-	4	852	c.550G>C	c.(550-552)Gat>Cat	p.D184H	TRIM5_ENST00000380034.3_Missense_Mutation_p.D184H|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_Missense_Mutation_p.D184H|TRIM5_ENST00000380027.1_Missense_Mutation_p.D184H|TRIM5_ENST00000396855.3_Missense_Mutation_p.D184H|TRIM5_ENST00000396853.4_Missense_Mutation_p.D184H			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	184					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TGCTCAAAATCTGCCAAGACG	0.468													4	128					0	0	0	0	G	5699628	C	G	5699628	3	3	34	1	0	0	0	0	1	0	0	0	16620	913	32	2	1190	2	TRIM5	11	5699628	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	326613	5699628	129306888	182	6642											
OR52N2	390077	broad.mit.edu	37	chr11	5842217	5842217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatatctgctgtatctctGtatcttacactatgattttg	8	20	6	7	0	3	2	0	2	3	0	4	2	3	2	0	0	2	3	0	0	5	8			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:5842217G>A	ENST00000317037.2	+	1	674	c.652G>A	c.(652-654)Gta>Ata	p.V218I	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTATCTCTGTATCTTACAC	0.448													7	219					0	0	0	0	A	5842217	G	A	5842217	3	1	34	1	0	0	0	0	1	0	0	0	11199	1377	48	4	654	4	OR52N2	11	5842217	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	142589	5842217	129164299	183	6643											
SLC6A5	9152	broad.mit.edu	37	chr11	20648345	20648345	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagctggagctgggatctGgtacttcatcacacccaagt	9	10	12	10	0	3	0	2	0	1	0	3	3	3	3	1	4	3	3	1	4	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:20648345G>A	ENST00000525748.1	+	8	1625	c.1352G>A	c.(1351-1353)tGg>tAg	p.W451*		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	451					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCTGGGATCTGGTACTTCATC	0.557													35	124					0	0	0	0	A	20648345	G	A	20648345	4	1	34	1	0	0	0	0	0	1	0	0	14775	1357	47	4	1382	4	SLC6A5	11	20648345	Nonsense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	14806128	20648345	114358171	184	6644											
TCP11L1	55346	broad.mit.edu	37	chr11	33076194	33076194	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctagagacagcgagaggtgtCaccaacatggctctagccca	12	6	11	12	1	2	2	1	0	1	2	2	4	2	2	2	2	3	1	2	2	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:33076194C>T	ENST00000334274.4	+	3	619	c.219C>T	c.(217-219)gtC>gtT	p.V73V	TCP11L1_ENST00000432887.1_Silent_p.V73V|TCP11L1_ENST00000531632.2_Silent_p.V73V|TCP11L1_ENST00000530171.1_Intron	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	73										kidney(1)|liver(2)|lung(2)|skin(1)	6						CGAGAGGTGTCACCAACATGG	0.418													37	101					0	0	0	0	T	33076194	C	T	33076194	2	4	34	1	0	0	0	0	0	0	0	1	15808	813	29	2		2	TCP11L1	11	33076194	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	12427849	33076194	101930322	185	6645											
HIPK3	10114	broad.mit.edu	37	chr11	33373367	33373367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagaaaatggcttaaatgcCgatgagcatatggcaaacac	16	8	9	8	1	0	2	0	1	0	1	0	3	0	2	1	2	3	3	1	2	7	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:33373367C>T	ENST00000303296.4	+	15	3326	c.3021C>T	c.(3019-3021)gcC>gcT	p.A1007A	HIPK3_ENST00000379016.3_Silent_p.A986A|HIPK3_ENST00000456517.1_Silent_p.A986A|HIPK3_ENST00000525975.1_Silent_p.A986A	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1007	Required for localization to nuclear speckles (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GCTTAAATGCCGATGAGCATA	0.433													7	32					0	0	0	0	T	33373367	C	T	33373367	2	4	34	1	0	0	0	0	0	0	0	1	7168	639	23	1		1	HIPK3	11	33373367	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	297173	33373367	101633149	186	6646											
AMBRA1	55626	broad.mit.edu	37	chr11	46567252	46567252	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttggcagtggcaatcagcagGagctgagccgtagggtggaa	10	7	17	7	1	1	1	1	1	0	0	1	3	1	3	1	5	3	5	1	5	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:46567252G>C	ENST00000458649.2	-	5	871	c.453C>G	c.(451-453)ctC>ctG	p.L151L	AMBRA1_ENST00000533727.1_Silent_p.L151L|AMBRA1_ENST00000534300.1_Silent_p.L151L|AMBRA1_ENST00000298834.3_Silent_p.L151L|AMBRA1_ENST00000314845.3_Silent_p.L151L|AMBRA1_ENST00000426438.1_Silent_p.L151L|AMBRA1_ENST00000528950.1_Silent_p.L151L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	151					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CAATCAGCAGGAGCTGAGCCG	0.532													19	64					0	0	0	0	C	46567252	G	C	46567252	2	2	34	1	0	0	0	0	0	0	0	1	565	1161	41	2		2	AMBRA1	11	46567252	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	13193885	46567252	88439264	187	6647											
OR5D14	219436	broad.mit.edu	37	chr11	55563543	55563543	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctctccggttaaacttctCtggacctaatgtaatcaacc	10	13	6	12	1	3	0	1	0	2	0	5	1	3	1	3	2	3	3	3	2	5	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:55563543C>G	ENST00000335605.1	+	1	512	c.512C>G	c.(511-513)tCt>tGt	p.S171C		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S171Y(1)|p.S171F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTAAACTTCTCTGGACCTAAT	0.493													8	221					0	0	0	0	G	55563543	C	G	55563543	3	3	34	1	0	0	0	0	1	0	0	0	11226	913	32	2	514	2	OR5D14	11	55563543	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	8996291	55563543	79442973	188	6648											
TMEM132A	54972	broad.mit.edu	37	chr11	60695323	60695323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgctcaccaagcctgcCgcttccaggtgagtagacag	9	7	11	14	1	1	2	1	1	0	1	2	2	2	2	4	1	3	4	4	1	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:60695323C>G	ENST00000005286.4	+	3	679	c.526C>G	c.(526-528)Cgc>Ggc	p.R176G	TMEM132A_ENST00000453848.2_Missense_Mutation_p.R176G	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	176						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCAAGCCTGCCGCTTCCAGGT	0.672													14	31					0	0	0	0	G	60695323	C	G	60695323	3	3	34	1	0	0	0	0	1	0	0	0	16139	652	23	3	536	3	TMEM132A	11	60695323	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	5131780	60695323	74311193	189	6649											
GANAB	23193	broad.mit.edu	37	chr11	62398117	62398117	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaagcatggtgcggggctGagggaagcgactggggtccc	7	6	18	10	2	1	1	1	1	0	0	2	3	2	2	1	6	3	2	1	6	2	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:62398117G>C	ENST00000346178.4	-	12	1423	c.1408C>G	c.(1408-1410)Cag>Gag	p.Q470E	GANAB_ENST00000540933.1_Missense_Mutation_p.Q351E|GANAB_ENST00000356638.3_Missense_Mutation_p.Q448E|GANAB_ENST00000534779.1_Missense_Mutation_p.Q356E	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	448					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GTGCGGGGCTGAGGGAAGCGA	0.547													9	50					0	0	0	0	C	62398117	G	C	62398117	3	2	34	1	0	0	0	0	1	0	0	0	6282	1299	45	2	1548	2	GANAB	11	62398117	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1702794	62398117	72608399	190	6650											
MARK2	2011	broad.mit.edu	37	chr11	63662785	63662785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttgccaaggtgaagttggCccgacacatcctgactggga	9	10	12	10	1	0	2	0	2	0	0	1	4	1	3	3	3	1	1	3	3	2	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:63662785C>T	ENST00000402010.2	+	2	788	c.209C>T	c.(208-210)gCc>gTc	p.A70V	MARK2_ENST00000413835.2_Missense_Mutation_p.A70V|MARK2_ENST00000350490.7_Missense_Mutation_p.A70V|MARK2_ENST00000377810.3_Missense_Mutation_p.A37V|MARK2_ENST00000509502.2_Missense_Mutation_p.A37V|MARK2_ENST00000502399.3_Missense_Mutation_p.A70V|MARK2_ENST00000425897.2_Missense_Mutation_p.A37V|MARK2_ENST00000513765.2_Missense_Mutation_p.A37V|MARK2_ENST00000377809.4_Missense_Mutation_p.A70V|MARK2_ENST00000361128.5_Missense_Mutation_p.A70V|MARK2_ENST00000408948.3_Missense_Mutation_p.A37V|MARK2_ENST00000315032.8_Missense_Mutation_p.A70V|MARK2_ENST00000508192.1_Missense_Mutation_p.A70V	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	70	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGAAGTTGGCCCGACACATC	0.577													4	98					0	0	0	0	T	63662785	C	T	63662785	3	4	34	1	0	0	0	0	1	0	0	0	9382	739	26	4	215	4	MARK2	11	63662785	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1264668	63662785	71343731	191	6651											
RIN1	9610	broad.mit.edu	37	chr11	66102902	66102902	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcccagatgggagatggcctCcagctctttgtgagtggctg	6	10	15	10	0	1	3	0	1	1	2	2	4	2	3	3	3	1	2	3	3	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:66102902C>G	ENST00000311320.4	-	5	649	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Missense_Mutation_p.E70Q|RIN1_ENST00000424433.2_Missense_Mutation_p.E70Q	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	175					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GAGATGGCCTCCAGCTCTTTG	0.622													12	43					0	0	0	0	G	66102902	C	G	66102902	3	3	34	1	0	0	0	0	1	0	0	0	13456	864	30	2	1852	2	RIN1	11	66102902	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	2440117	66102902	68903614	192	6652											
ACTN3	89	broad.mit.edu	37	chr11	66325221	66325221	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctggagaaccgtgtgggtGagcccagcatgagtgccatg	8	7	17	9	1	0	3	0	2	0	1	0	4	0	3	3	3	4	2	3	3	1	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:66325221G>A	ENST00000513398.1	+	0	1046				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CCGTGTGGGTGAGCCCAGCAT	0.632													7	24					0	0	0	0	A	66325221	G	A	66325221	1	1	34	0	1	0	0	0	0	0	0	0	206	1291	45	2		2	ACTN3	11	66325221	RNA	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	222319	66325221	68681295	193	6653											
CCND1	595	broad.mit.edu	37	chr11	69466022	69466022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggacctggcttgcacacCcaccgacgtgcgggacgtgg	6	6	16	13	4	0	0	0	0	0	0	0	3	0	2	3	5	2	2	3	5	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:69466022C>T	ENST00000227507.2	+	5	1087	c.860C>T	c.(859-861)cCc>cTc	p.P287L		NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	287					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	p.P287L(1)|p.P287H(1)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GCTTGCACACCCACCGACGTG	0.716			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)			10	28					0	0	0	0	T	69466022	C	T	69466022	3	4	34	1	0	0	0	0	1	0	0	0	2945	623	22	4	878	4	CCND1	11	69466022	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	3140801	69466022	65540494	194	6654											
PAK1	5058	broad.mit.edu	37	chr11	77091019	77091019	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagagaaatctctggccgctCtttctctttctttttatttg	6	19	7	9	1	4	1	0	0	4	1	6	3	4	1	1	1	0	1	1	1	2	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:77091019C>G	ENST00000356341.3	-	3	742	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	PAK1_ENST00000278568.4_Missense_Mutation_p.E71Q|PAK1_ENST00000530617.1_Missense_Mutation_p.E71Q|PAK1_ENST00000528203.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	71	Autoregulatory region.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TCTGGCCGCTCTTTCTCTTTC	0.388													4	61					0	0	0	0	G	77091019	C	G	77091019	3	3	34	1	0	0	0	0	1	0	0	0	11470	922	32	2	1531	2	PAK1	11	77091019	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	7624997	77091019	57915497	195	6655											
MMP27	64066	broad.mit.edu	37	chr11	102564693	102564693	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtggtcttatcacagacGgctgcatctattttcttcac	7	16	7	11	1	5	1	2	0	3	1	5	1	5	1	0	2	1	2	0	2	2	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:102564693G>A	ENST00000260229.4	-	8	1228	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	379	Hemopexin-like 3.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TATCACAGACGGCTGCATCTA	0.393													44	99					0	0	0	0	A	102564693	G	A	102564693	2	1	34	1	0	0	0	0	0	0	0	1	9734	1103	39	1		1	MMP27	11	102564693	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	25473674	102564693	32441823	196	6656											
HTR3A	3359	broad.mit.edu	37	chr11	113851964	113851964	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagtggaaccctgaggacTttgacaacatcaccaagttg	12	9	9	11	0	1	2	1	2	0	0	2	4	2	4	3	2	2	1	3	2	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:113851964T>G	ENST00000504030.2	+	4	749	c.304T>G	c.(304-306)Ttt>Gtt	p.F102V	HTR3A_ENST00000299961.5_Missense_Mutation_p.F87V|HTR3A_ENST00000375498.2_Missense_Mutation_p.F108V|HTR3A_ENST00000355556.2_Missense_Mutation_p.F108V|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Missense_Mutation_p.F102V			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	102					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCCTGAGGACTTTGACAACAT	0.552													17	45					0	0	0	0	G	113851964	T	G	113851964	3	3	34	1	0	0	0	0	1	0	0	0	7497	1609	56	5	362	5	HTR3A	11	113851964	Missense_Mutation	SNP	T	TCGA-BA-A6DJ-01A-11D-A30E-08	11287271	113851964	21154552	197	6657											
UBE4A	9354	broad.mit.edu	37	chr11	118235857	118235857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctttgctgctctttttggctCcctggctgatgccaaacagt	5	15	9	12	0	1	1	0	1	1	0	2	1	2	1	2	2	4	4	2	2	1	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:118235857C>G	ENST00000252108.3	+	2	193	c.62C>G	c.(61-63)tCc>tGc	p.S21C	UBE4A_ENST00000431736.2_Missense_Mutation_p.S21C	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	21					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTTTTTGGCTCCCTGGCTGAT	0.458													12	34					0	0	0	0	G	118235857	C	G	118235857	3	3	34	1	0	0	0	0	1	0	0	0	16978	855	30	2	64	2	UBE4A	11	118235857	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	4383893	118235857	16770659	198	6658											
BCL9L	283149	broad.mit.edu	37	chr11	118770865	118770865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggagggttggcgggaGgtgctgaggagctgctccgg	4	7	22	8	3	0	1	0	1	0	0	1	4	1	4	1	7	3	5	1	7	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr11:118770865G>A	ENST00000334801.3	-	7	4131	c.3167C>T	c.(3166-3168)cCt>cTt	p.P1056L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1056	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GTTGGCGGGAGGTGCTGAGGA	0.632													16	57					0	0	0	0	A	118770865	G	A	118770865	3	1	34	1	0	0	0	0	1	0	0	0	1386	1000	35	4	1340	4	BCL9L	11	118770865	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	535008	118770865	16235651	199	6659											
RAD52	5893	broad.mit.edu	37	chr12	1023689	1023689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgtcacaggaggggccGgaggcgctgctacggttcac	6	7	17	11	4	2	0	2	0	0	0	2	2	2	2	1	6	3	3	1	6	1	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:1023689G>C	ENST00000358495.3	-	10	1013	c.875C>G	c.(874-876)cCg>cGg	p.P292R	RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.P215R|RAD52_ENST00000430095.2_Missense_Mutation_p.P292R	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	292					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			AGGAGGGGCCGGAGGCGCTGC	0.517								Homologous recombination					13	35					0	0	0	0	C	1023689	G	C	1023689	3	2	34	1	0	0	0	0	1	0	0	0	13073	1116	39	3	393	3	RAD52	12	1023689	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08		1023689	132828206	200	6660											
TEAD4	7004	broad.mit.edu	37	chr12	3103948	3103948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccttggagggcacggccGgcaccattacctccaacgag	9	5	13	14	3	0	0	0	0	0	0	1	3	1	1	5	4	3	2	5	4	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:3103948G>A	ENST00000359864.2	+	3	206	c.16G>A	c.(16-18)Ggc>Agc	p.G6S	TEAD4_ENST00000397122.2_Intron|TEAD4_ENST00000358409.2_Missense_Mutation_p.G6S	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	6					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GGGCACGGCCGGCACCATTAC	0.662													28	78					0	0	0	0	A	3103948	G	A	3103948	3	1	34	1	0	0	0	0	1	0	0	0	15835	1116	39	1	18	1	TEAD4	12	3103948	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	2080259	3103948	130747947	201	6661											
KCNA5	3741	broad.mit.edu	37	chr12	5153736	5153736	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgggcaccctggcgcagttCcccaacacactcctggggga	7	6	12	16	1	0	0	0	0	0	0	2	1	2	1	4	4	1	3	4	4	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:5153736C>T	ENST00000252321.3	+	1	652	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	141						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			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						TGGCGCAGTTCCCCAACACAC	0.662													4	63					0	0	0	0	T	5153736	C	T	5153736	2	4	34	1	0	0	0	0	0	0	0	1	8059	854	30	2		2	KCNA5	12	5153736	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	2049788	5153736	128698159	202	6662											
VWF	7450	broad.mit.edu	37	chr12	6219670	6219670	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatcctggccacaaagccAtaggcctcaccggacagctt	10	7	9	15	2	1	0	1	0	0	0	3	2	2	1	5	3	2	1	5	3	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:6219670A>G	ENST00000261405.5	-	5	656	c.402T>C	c.(400-402)taT>taC	p.Y134Y	VWF_ENST00000572068.1_Silent_p.Y171Y	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	134	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCACAAAGCCATAGGCCTCAC	0.527													34	124					0	0	0	0	G	6219670	A	G	6219670	2	3	34	1	0	0	0	0	0	0	0	1	17342	224	8	5		5	VWF	12	6219670	Silent	SNP	A	TCGA-BA-A6DJ-01A-11D-A30E-08	1065934	6219670	127632225	203	6663											
ACRBP	84519	broad.mit.edu	37	chr12	6753358	6753358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatatatttcattcatttCatctatttcctgggctgatc	9	19	4	9	0	5	1	4	1	1	0	7	1	6	1	1	1	0	1	1	1	3	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:6753358C>T	ENST00000229243.2	-	5	982	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	ACRBP_ENST00000536350.1_Missense_Mutation_p.E297K|ACRBP_ENST00000414226.2_Missense_Mutation_p.E264K	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	297						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TCATTCATTTCATCTATTTCC	0.458													43	76					0	0	0	0	T	6753358	C	T	6753358	3	4	34	1	0	0	0	0	1	0	0	0	170	835	29	2	766	2	ACRBP	12	6753358	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	533688	6753358	127098537	204	6664											
C1R	715	broad.mit.edu	37	chr12	7244099	7244099	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctccaggtcaaactgctgGaagacgagcttcaccctgta	10	8	11	12	1	2	1	2	0	0	1	3	3	3	2	2	3	3	4	2	3	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:7244099G>A	ENST00000542285.1	-	2	326	c.177C>T	c.(175-177)ttC>ttT	p.F59F				P00736	C1R_HUMAN	complement component 1, r subcomponent	60	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAAACTGCTGGAAGACGAGCT	0.557													10	16					0	0	0	0	A	7244099	G	A	7244099	2	1	34	1	0	0	0	0	0	0	0	1	1991	1165	41	2		2	C1R	12	7244099	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	490741	7244099	126607796	205	6665											
TUBA1B	10376	broad.mit.edu	37	chr12	49523132	49523132	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgcctgtgatgagctgctCagggtggaagagctggcggt	6	10	17	8	1	1	3	1	2	0	1	1	4	1	4	1	4	4	3	1	4	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:49523132C>G	ENST00000336023.5	-	3	362	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	90					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						ATGAGCTGCTCAGGGTGGAAG	0.552													5	168					0	0	0	0	G	49523132	C	G	49523132	3	3	34	1	0	0	0	0	1	0	0	0	16840	835	29	2	1095	2	TUBA1B	12	49523132	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	42279033	49523132	84328763	206	6666											
KRT83	3889	broad.mit.edu	37	chr12	52713011	52713011	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcccactgtcagcctcCacgcactcggcctcccgccg	5	6	8	22	4	1	0	1	0	0	0	5	0	4	0	7	1	2	1	7	1	0	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:52713011C>T	ENST00000293670.3	-	2	584	c.522G>A	c.(520-522)gtG>gtA	p.V174V		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	174	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTCAGCCTCCACGCACTCGG	0.612													38	110					0	0	0	0	T	52713011	C	T	52713011	2	4	34	1	0	0	0	0	0	0	0	1	8549	581	21	4		4	KRT83	12	52713011	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	3189879	52713011	81138884	207	6667											
KRT79	338785	broad.mit.edu	37	chr12	53227877	53227877	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaggcttcggctgccaaaGccacctgtgccggggccaca	8	6	13	14	2	0	1	0	0	0	1	1	1	0	1	5	4	3	2	5	4	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:53227877G>C	ENST00000330553.5	-	1	202	c.168C>G	c.(166-168)ggC>ggG	p.G56G		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	56	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCTGCCAAAGCCACCTGTGC	0.667													28	95					0	0	0	0	C	53227877	G	C	53227877	2	2	34	1	0	0	0	0	0	0	0	1	8544	958	34	4		4	KRT79	12	53227877	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	514866	53227877	80624018	208	6668											
ANKRD52	283373	broad.mit.edu	37	chr12	56651665	56651665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaacgcacttcctccacatCtcggctaaagatggcctgga	10	8	10	13	2	1	1	0	0	1	1	4	3	3	3	3	4	1	2	3	4	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:56651665C>G	ENST00000267116.7	-	2	179	c.58G>C	c.(58-60)Gat>Cat	p.D20H		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	20							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TCCTCCACATCTCGGCTAAAG	0.637													5	54					0	0	0	0	G	56651665	C	G	56651665	3	3	34	1	0	0	0	0	1	0	0	0	677	913	32	2	3280	2	ANKRD52	12	56651665	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	3423788	56651665	77200230	209	6669											
CAND1	55832	broad.mit.edu	37	chr12	67706499	67706499	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagcagagaagagtccactGatgagtgaattccagtcaca	15	7	11	8	0	1	5	1	3	0	2	3	7	3	5	2	0	1	1	2	0	3	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:67706499G>A	ENST00000545606.1	+	15	4019	c.3582G>A	c.(3580-3582)ctG>ctA	p.L1194L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1194					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AGAGTCCACTGATGAGTGAAT	0.428													22	63					0	0	0	0	A	67706499	G	A	67706499	2	1	34	1	0	0	0	0	0	0	0	1	2640	1277	45	2		2	CAND1	12	67706499	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	11054834	67706499	66145396	210	6670											
NAP1L1	4673	broad.mit.edu	37	chr12	76453586	76453586	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtactaaccgaaatctCatcttcttcatctggtttcc	8	16	6	11	1	5	0	2	0	4	0	7	1	6	0	2	2	2	3	2	2	3	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:76453586C>A	ENST00000261182.8	-	6	907	c.421G>T	c.(421-423)Gag>Tag	p.E141*	NAP1L1_ENST00000547773.1_Nonsense_Mutation_p.E78*|NAP1L1_ENST00000542344.1_Nonsense_Mutation_p.E100*|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000431879.3_Intron|NAP1L1_ENST00000549596.1_Nonsense_Mutation_p.E141*|NAP1L1_ENST00000552342.1_Nonsense_Mutation_p.E141*|NAP1L1_ENST00000535020.2_Nonsense_Mutation_p.E141*|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.E141*|NAP1L1_ENST00000548044.1_Nonsense_Mutation_p.E100*	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	141	Asp/Glu-rich (acidic).				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				ACCGAAATCTCATCTTCTTCA	0.289													8	21					0.00448238	0.0045166	1	0	A	76453586	C	A	76453586	4	1	34	1	0	0	0	0	0	1	0	0	10226	835	29	2	794	2	NAP1L1	12	76453586	Nonsense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	8747087	76453586	57398309	211	6671											
NAV3	89795	broad.mit.edu	37	chr12	78513418	78513418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaaatccagcaccagtGgcattcctggccgaggaggc	10	7	11	13	1	1	0	1	0	0	0	3	2	3	1	4	4	1	2	4	4	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:78513418G>T	ENST00000397909.2	+	15	3615	c.3442G>T	c.(3442-3444)Ggc>Tgc	p.G1148C	NAV3_ENST00000266692.7_Missense_Mutation_p.G1148C|NAV3_ENST00000228327.6_Missense_Mutation_p.G1148C|NAV3_ENST00000536525.2_Missense_Mutation_p.G1148C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1148	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGCACCAGTGGCATTCCTGG	0.537										HNSCC(70;0.22)			25	75					7.92952e-12	8.39596e-12	1	0	T	78513418	G	T	78513418	3	4	34	1	0	0	0	0	1	0	0	0	10255	1348	47	4	3500	4	NAV3	12	78513418	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	2059832	78513418	55338477	212	6672											
GNPTAB	79158	broad.mit.edu	37	chr12	102158732	102158732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctggaagaagtgttatggGactaactaaattttcgtaac	13	13	9	6	1	1	1	0	0	1	1	2	3	1	3	0	2	2	2	0	2	7	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:102158732G>A	ENST00000299314.7	-	13	2225	c.1963C>T	c.(1963-1965)Ccc>Tcc	p.P655S		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	655					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AGTGTTATGGGACTAACTAAA	0.423													21	60					0	0	0	0	A	102158732	G	A	102158732	3	1	34	1	0	0	0	0	1	0	0	0	6596	1174	41	2	1843	2	GNPTAB	12	102158732	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	23645314	102158732	31693163	213	6673											
SRRM4	84530	broad.mit.edu	37	chr12	119563241	119563241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcaccgctgcccctcgCggtcccagagctcggagtcc	5	6	11	19	4	1	1	1	0	0	1	5	2	3	2	6	2	2	2	6	2	0	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:119563241C>T	ENST00000267260.4	+	7	959	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	191	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTGCCCCTCGCGGTCCCAGAG	0.637													4	69					0	0	0	0	T	119563241	C	T	119563241	3	4	34	1	0	0	0	0	1	0	0	0	15261	759	27	1	597	1	SRRM4	12	119563241	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	17404509	119563241	14288654	214	6674											
CABP1	9478	broad.mit.edu	37	chr12	121098056	121098056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatggctacatcaactgccGggatctgggcaactgcatgc	9	8	13	11	1	2	0	1	0	1	0	2	2	2	2	1	4	6	3	1	4	3	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:121098056G>A	ENST00000453000.1	+	3	1063	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	CABP1_ENST00000351200.2_Missense_Mutation_p.R45Q|CABP1_ENST00000288616.3_Missense_Mutation_p.R105Q|CABP1_ENST00000316803.3_Missense_Mutation_p.R248Q			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	248						cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATCAACTGCCGGGATCTGGGC	0.567													21	68					0	0	0	0	A	121098056	G	A	121098056	3	1	34	1	0	0	0	0	1	0	0	0	2556	1116	39	1	986	1	CABP1	12	121098056	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1534815	121098056	12753839	215	6675											
P2RX4	5025	broad.mit.edu	37	chr12	121666390	121666390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttggttaagaacaacatCtggtatcccaaatttaattt	13	16	5	7	0	1	1	0	0	1	1	2	1	2	1	1	2	2	2	1	2	6	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:121666390C>G	ENST00000337233.4	+	6	887	c.579C>G	c.(577-579)atC>atG	p.I193M	P2RX4_ENST00000543171.1_Missense_Mutation_p.I92M|P2RX4_ENST00000359949.7_Missense_Mutation_p.I209M|P2RX4_ENST00000541532.1_3'UTR|P2RX4_ENST00000540930.1_3'UTR	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	193					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAACAACATCTGGTATCCCA	0.373													5	32					0	0	0	0	G	121666390	C	G	121666390	3	3	34	1	0	0	0	0	1	0	0	0	11413	903	32	2	601	2	P2RX4	12	121666390	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	568334	121666390	12185505	216	6676											
RIMBP2	23504	broad.mit.edu	37	chr12	130897293	130897293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccaagccgggcacaggtttCcccacggtagaatccatcag	10	6	11	14	2	1	1	1	0	0	1	3	1	3	1	5	3	1	3	5	3	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:130897293C>T	ENST00000261655.4	-	15	2855	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	898	SH3 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCACAGGTTTCCCCACGGTAG	0.438													19	61					0	0	0	0	T	130897293	C	T	130897293	3	4	34	1	0	0	0	0	1	0	0	0	13446	864	30	2	486	2	RIMBP2	12	130897293	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	9230903	130897293	2954602	217	6677											
EP400	57634	broad.mit.edu	37	chr12	132529947	132529947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgcgcaacaccaggacttCtgaaaattcgcagagagggc	13	5	11	12	3	1	2	0	1	1	1	2	4	1	3	2	2	1	2	2	2	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr12:132529947C>T	ENST00000333577.4	+	39	7085	c.6976C>T	c.(6976-6978)Ctg>Ttg	p.L2326L	EP400_ENST00000330386.6_Silent_p.L2209L|EP400_ENST00000389562.2_Silent_p.L2289L|EP400_ENST00000389561.2_Silent_p.L2290L|EP400_ENST00000332482.4_Silent_p.L2253L			Q96L91	EP400_HUMAN	E1A binding protein p400	2326					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACCAGGACTTCTGAAAATTCG	0.572													15	35					0	0	0	0	T	132529947	C	T	132529947	2	4	34	1	0	0	0	0	0	0	0	1	5187	912	32	2		2	EP400	12	132529947	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1632654	132529947	1321948	218	6678											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20220907	20220907	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaattaaagaaagttaaaAagggtgaaataagagattta	23	9	9	0	0	0	4	0	1	0	3	0	5	0	4	0	1	0	1	0	1	11	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr13:20220907A>G	ENST00000361479.5	+	3	762	c.694A>G	c.(694-696)Aag>Gag	p.K232E	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.K232E	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	232	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		gaaagttaaaaagggtgaaat	0.303													13	30					0	0	0	0	G	20220907	A	G	20220907	3	3	34	1	0	0	0	0	1	0	0	0	9797	15	1	5	704	5	MPHOSPH8	13	20220907	Missense_Mutation	SNP	A	TCGA-BA-A6DJ-01A-11D-A30E-08		20220907	94948971	219	6679											
DCLK1	9201	broad.mit.edu	37	chr13	36700207	36700207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccgttcacccgcgaccctCggctgtatctctgcgcctta	4	10	10	17	5	2	0	1	0	1	0	4	1	2	0	4	2	1	3	4	2	2	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr13:36700207C>T	ENST00000255448.4	-	2	279	c.68G>A	c.(67-69)cGa>cAa	p.R23Q	DCLK1_ENST00000379892.4_Missense_Mutation_p.R23Q|DCLK1_ENST00000360631.3_Missense_Mutation_p.R23Q	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	23					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCGCGACCCTCGGCTGTATCT	0.637													57	105					0	0	0	0	T	36700207	C	T	36700207	3	4	34	1	0	0	0	0	1	0	0	0	4323	884	31	1	2189	1	DCLK1	13	36700207	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	16479300	36700207	78469671	220	6680											
DIAPH3	81624	broad.mit.edu	37	chr13	60498986	60498986	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatttcttctcttcaataTcttcctcttctcttctctct	4	22	1	14	1	8	0	1	0	7	0	13	1	9	0	1	0	0	0	1	0	2	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr13:60498986T>C	ENST00000400324.4	-	18	2313	c.2093A>G	c.(2092-2094)gAt>gGt	p.D698G	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.D628G|DIAPH3_ENST00000400320.1_Missense_Mutation_p.D652G|DIAPH3_ENST00000400330.1_Missense_Mutation_p.D698G|DIAPH3_ENST00000377908.2_Missense_Mutation_p.D687G|DIAPH3_ENST00000267215.4_Missense_Mutation_p.D698G	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	698	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTCTTCAATATCTTCCTCTTC	0.299													5	18					0	0	0	0	C	60498986	T	C	60498986	3	2	34	1	0	0	0	0	1	0	0	0	4557	1435	50	5	1552	5	DIAPH3	13	60498986	Missense_Mutation	SNP	T	TCGA-BA-A6DJ-01A-11D-A30E-08	23798779	60498986	54670892	221	6681											
SCEL	8796	broad.mit.edu	37	chr13	78171683	78171683	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttctcttcccaaagtgaAgaattggataatctcatcaa	13	15	5	8	0	3	2	2	1	2	1	6	3	4	3	1	1	0	0	1	1	5	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr13:78171683A>G	ENST00000535157.1	+	12	860	c.690A>G	c.(688-690)gaA>gaG	p.E230E	SCEL_ENST00000349847.3_Silent_p.E252E|SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000377246.3_Silent_p.E232E	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	252					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CCCAAAGTGAAGAATTGGATA	0.303													8	18					0	0	0	0	G	78171683	A	G	78171683	2	3	34	1	0	0	0	0	0	0	0	1	13974	69	3	5		5	SCEL	13	78171683	Silent	SNP	A	TCGA-BA-A6DJ-01A-11D-A30E-08	17672697	78171683	36998195	222	6682											
GPC5	2262	broad.mit.edu	37	chr13	92380902	92380902	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaggaacagtgaagagacGcttgccaacagaagaaagta	19	4	11	7	1	0	4	0	1	0	3	0	6	0	5	1	1	3	2	1	1	7	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr13:92380902G>A	ENST00000377067.3	+	4	1509	c.1137G>A	c.(1135-1137)acG>acA	p.T379T	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	379						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTGAAGAGACGCTTGCCAACA	0.393													37	94					0	0	0	0	A	92380902	G	A	92380902	2	1	34	1	0	0	0	0	0	0	0	1	6650	1074	38	1		1	GPC5	13	92380902	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	14209219	92380902	22788976	223	6683											
OR5AU1	390445	broad.mit.edu	37	chr14	21624144	21624144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagccttctgaagatgagtCttattgagggcatttggctt	9	14	11	7	0	2	4	0	3	2	1	2	4	2	4	1	2	1	2	1	2	2	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:21624144C>G	ENST00000304418.3	-	1	78	c.41G>C	c.(40-42)aGa>aCa	p.R14T		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GAAGATGAGTCTTATTGAGGG	0.448													50	164					0	0	0	0	G	21624144	C	G	21624144	3	3	34	1	0	0	0	0	1	0	0	0	11218	913	32	2	1050	2	OR5AU1	14	21624144	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08		21624144	85725396	224	6684											
AKAP6	9472	broad.mit.edu	37	chr14	33293223	33293223	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaatcattgacatggcttcGacagccctaaaaagtaaatc	16	9	7	9	1	1	1	1	1	0	0	3	3	1	1	1	1	1	2	1	1	6	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:33293223G>A	ENST00000280979.4	+	13	6374	c.6204G>A	c.(6202-6204)tcG>tcA	p.S2068S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2068	PKA-RII subunit binding domain.				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)		ACATGGCTTCGACAGCCCTAA	0.423													22	46					0	0	0	0	A	33293223	G	A	33293223	2	1	34	1	0	0	0	0	0	0	0	1	455	1045	37	1		1	AKAP6	14	33293223	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	11669079	33293223	74056317	225	6685											
NIN	51199	broad.mit.edu	37	chr14	51230664	51230664	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctcagactggagttcatCtacttggtcttgtagtacct	8	14	9	10	0	4	1	2	0	2	1	4	2	4	2	1	2	3	4	1	2	3	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:51230664C>G	ENST00000245441.5	-	15	1844	c.1654G>C	c.(1654-1656)Gat>Cat	p.D552H	NIN_ENST00000453196.1_Missense_Mutation_p.D552H|NIN_ENST00000389868.3_Missense_Mutation_p.D552H|NIN_ENST00000382041.3_Missense_Mutation_p.D552H|NIN_ENST00000382043.4_Missense_Mutation_p.D552H|NIN_ENST00000324330.9_Missense_Mutation_p.D552H|NIN_ENST00000530997.2_Missense_Mutation_p.D552H	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	552					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGGAGTTCATCTACTTGGTCT	0.433			T	PDGFRB	MPD								27	71					0	0	0	0	G	51230664	C	G	51230664	3	3	34	1	0	0	0	0	1	0	0	0	10487	913	32	2	4963	2	NIN	14	51230664	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	17937441	51230664	56118876	226	6686											
SMOC1	64093	broad.mit.edu	37	chr14	70418920	70418920	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactcaacccaaacccatCtgtgcctctgatggcaggtc	10	8	9	14	0	3	1	1	1	2	0	4	2	3	2	3	3	3	1	3	3	2	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:70418920C>A	ENST00000381280.4	+	2	418	c.165C>A	c.(163-165)atC>atA	p.I55I	SMOC1_ENST00000361956.3_Silent_p.I55I|SMOC1_ENST00000555917.1_3'UTR	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	55	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCAAACCCATCTGTGCCTCTG	0.537													46	102					1.41504e-22	1.51857e-22	1	0	A	70418920	C	A	70418920	2	1	34	1	0	0	0	0	0	0	0	1	14889	903	32	2		2	SMOC1	14	70418920	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	19188256	70418920	36930620	227	6687											
ZFYVE1	53349	broad.mit.edu	37	chr14	73491066	73491066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttctcaggcgctcctgccGatggagctcctcctcgcagc	4	10	11	16	3	1	0	1	0	1	0	6	2	4	1	4	2	3	4	4	2	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:73491066G>A	ENST00000556143.1	-	2	871	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R51W|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R51W	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	51						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CGCTCCTGCCGATGGAGCTCC	0.552													4	132					0	0	0	0	A	73491066	G	A	73491066	3	1	34	1	0	0	0	0	1	0	0	0	17758	1057	37	1	2226	1	ZFYVE1	14	73491066	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	3072146	73491066	33858474	228	6688											
YLPM1	56252	broad.mit.edu	37	chr14	75264827	75264827	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaagcccaagctgttactCagcctgtaccccttgcgaat	11	9	7	14	1	1	0	1	0	0	0	1	1	1	0	4	0	6	3	4	0	5	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:75264827C>G	ENST00000325680.7	+	5	2951	c.2827C>G	c.(2827-2829)Cag>Gag	p.Q943E	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.Q748E	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	748	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGCTGTTACTCAGCCTGTACC	0.478													35	56					0	0	0	0	G	75264827	C	G	75264827	3	3	34	1	0	0	0	0	1	0	0	0	17582	827	29	2	2845	2	YLPM1	14	75264827	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1773761	75264827	32084713	229	6689											
NRXN3	9369	broad.mit.edu	37	chr14	79434581	79434581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcccaaagctcgtggcctctCgagatggctttcagggctgt	6	11	12	12	2	2	1	1	0	1	1	5	2	3	1	2	3	1	3	2	3	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:79434581C>G	ENST00000554719.1	+	11	2406	c.1915C>G	c.(1915-1917)Cga>Gga	p.R639G	NRXN3_ENST00000335750.5_Missense_Mutation_p.R639G	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	245					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)		CGTGGCCTCTCGAGATGGCTT	0.517													37	74					0	0	0	0	G	79434581	C	G	79434581	3	3	34	1	0	0	0	0	1	0	0	0	10738	876	31	3	1949	3	NRXN3	14	79434581	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	4169754	79434581	27914959	230	6690											
ATXN3	4287	broad.mit.edu	37	chr14	92572896	92572896	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtggaagatggactccaTgtttatttgtctggagccaa	9	13	11	8	1	1	1	0	0	1	1	3	4	2	4	2	3	1	1	2	3	3	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:92572896T>C	ENST00000545170.1	-	1	69	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ATXN3_ENST00000429774.2_Start_Codon_SNP_p.M1V|ATXN3_ENST00000393287.5_Start_Codon_SNP_p.M1V|ATXN3_ENST00000502250.1_5'UTR|ATXN3_ENST00000532032.1_Start_Codon_SNP_p.M1V|ATXN3_ENST00000503767.1_Start_Codon_SNP_p.M1V|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000340660.6_Start_Codon_SNP_p.M1V	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	1	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		ATGGACTCCATGTTTATTTGT	0.711													18	56					0	0	0	0	C	92572896	T	C	92572896	1	2	34	1	0	0	0	0	0	0	0	0	1217	1464	51	5		5	ATXN3	14	92572896	Translation_Start_Site	SNP	T	TCGA-BA-A6DJ-01A-11D-A30E-08	13138315	92572896	14776644	231	6691											
BDKRB1	623	broad.mit.edu	37	chr14	96730784	96730784	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagcgctgatcctcacgctCgtggttgccttcctggtctg	4	12	11	14	3	2	1	1	1	1	0	5	1	4	1	3	2	2	3	3	2	0	2	rs150459277		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:96730784C>T	ENST00000216629.6	+	3	1371	c.765C>T	c.(763-765)ctC>ctT	p.L255L	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Intron	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	255					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TCCTCACGCTCGTGGTTGCCT	0.597													23	49					0	0	0	0	T	96730784	C	T	96730784	2	4	34	1	0	0	0	0	0	0	0	1	1396	871	31	1		1	BDKRB1	14	96730784	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	4157888	96730784	10618756	232	6692											
DIO3	1735	broad.mit.edu	37	chr14	102028295	102028295	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccagcacatcctcgactaCgcgcaagggaaccgcccgct	10	4	10	17	5	0	0	0	0	0	0	2	2	1	1	4	1	4	3	4	1	3	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr14:102028295C>T	ENST00000510508.4	+	1	608	c.462C>T	c.(460-462)taC>taT	p.Y154Y	DIO3_ENST00000359323.3_Silent_p.Y128Y			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	128					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TCCTCGACTACGCGCAAGGGA	0.627													27	72					0	0	0	0	T	102028295	C	T	102028295	2	4	34	1	0	0	0	0	0	0	0	1	4563	547	19	1		1	DIO3	14	102028295	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	5297511	102028295	5321245	233	6693											
GATM	2628	broad.mit.edu	37	chr15	45668818	45668818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcacctcgatggtgaacGgtggaacacaggcgttttct	8	11	11	11	3	2	1	1	1	1	0	3	3	2	2	2	4	2	1	2	4	2	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:45668818G>A	ENST00000396659.3	-	2	608	c.269C>T	c.(268-270)cCg>cTg	p.P90L	GATM_ENST00000558336.1_Missense_Mutation_p.P90L	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	90					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GATGGTGAACGGTGGAACACA	0.537													40	114					0	0	0	0	A	45668818	G	A	45668818	3	1	34	1	0	0	0	0	1	0	0	0	6312	1116	39	1	1034	1	GATM	15	45668818	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08		45668818	56862574	234	6694											
SPPL2A	84888	broad.mit.edu	37	chr15	51041871	51041871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggaagagctgtccaataagGgttataaagcatgcagtagt	14	10	12	5	0	0	1	0	0	0	1	1	2	1	2	1	2	3	5	1	2	7	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:51041871G>A	ENST00000261854.5	-	2	413	c.139C>T	c.(139-141)Cct>Tct	p.P47S	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	47						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GTCCAATAAGGGTTATAAAGC	0.418													5	151					0	0	0	0	A	51041871	G	A	51041871	3	1	34	1	0	0	0	0	1	0	0	0	15178	1232	43	4	1479	4	SPPL2A	15	51041871	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	5373053	51041871	51489521	235	6695											
HERC1	8925	broad.mit.edu	37	chr15	63922762	63922762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccacatcttctatgattactCcagccaggacagggatttgt	10	12	8	11	0	2	1	0	1	2	0	3	3	3	3	3	2	2	0	3	2	2	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:63922762C>T	ENST00000443617.2	-	69	12956	c.12869G>A	c.(12868-12870)gGa>gAa	p.G4290E		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4290					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TATGATTACTCCAGCCAGGAC	0.488													62	176					0	0	0	0	T	63922762	C	T	63922762	3	4	34	1	0	0	0	0	1	0	0	0	7107	855	30	2	1756	2	HERC1	15	63922762	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	12880891	63922762	38608630	236	6696											
IGDCC4	57722	broad.mit.edu	37	chr15	65680850	65680850	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaggcccaggtcccacctCtgtgcgcgcccccatcttga	7	7	10	17	2	2	1	0	1	2	0	3	2	3	1	5	2	1	0	5	2	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:65680850C>G	ENST00000352385.2	-	16	2991	c.2782G>C	c.(2782-2784)Gag>Cag	p.E928Q		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	928	Fibronectin type-III 5.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGTCCCACCTCTGTGCGCGCC	0.607													72	184					0	0	0	0	G	65680850	C	G	65680850	3	3	34	1	0	0	0	0	1	0	0	0	7622	922	32	2	990	2	IGDCC4	15	65680850	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1758088	65680850	36850542	237	6697											
KIF23	9493	broad.mit.edu	37	chr15	69733177	69733177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagccacagctacataggcGctctaactcttgcagcagca	11	7	8	15	1	2	0	0	0	2	0	2	0	2	0	2	1	7	5	2	1	3	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:69733177G>A	ENST00000260363.4	+	18	2255	c.2138G>A	c.(2137-2139)cGc>cAc	p.R713H	KIF23_ENST00000558585.1_Intron|KIF23_ENST00000352331.4_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.R713H|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000537891.1_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	713					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CTACATAGGCGCTCTAACTCT	0.423													18	31					0	0	0	0	A	69733177	G	A	69733177	3	1	34	1	0	0	0	0	1	0	0	0	8342	1087	38	1	2208	1	KIF23	15	69733177	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	4052327	69733177	32798215	238	6698											
CYP1A1	1543	broad.mit.edu	37	chr15	75015200	75015200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcagcaccaccacgggtgtgGagccaattcggatctgcagc	9	7	12	13	2	2	0	1	0	1	0	3	2	2	2	3	3	4	2	3	3	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:75015200G>C	ENST00000379727.3	-	2	437	c.239C>G	c.(238-240)tCc>tGc	p.S80C	CYP1A1_ENST00000395049.4_Missense_Mutation_p.S80C|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Missense_Mutation_p.S80C|CYP1A1_ENST00000395048.2_Missense_Mutation_p.S80C			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	80					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CACGGGTGTGGAGCCAATTCG	0.632									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				17	54					0	0	0	0	C	75015200	G	C	75015200	3	2	34	1	0	0	0	0	1	0	0	0	4181	1174	41	2	1323	2	CYP1A1	15	75015200	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	5282023	75015200	27516192	239	6699											
ST20	400410	broad.mit.edu	37	chr15	80191317	80191317	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcgttttcgtaagagtcaGaaaaattaggccggtttcac	13	12	9	7	3	2	2	2	0	0	2	4	2	2	2	1	2	0	3	1	2	5	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:80191317G>C	ENST00000478497.1	-	3	875	c.196C>G	c.(196-198)Ctg>Gtg	p.L66V	ST20-MTHFS_ENST00000479961.1_Intron|ST20_ENST00000485386.1_Missense_Mutation_p.L66V|ST20-MTHFS_ENST00000494999.1_Intron|ST20_ENST00000562759.1_Missense_Mutation_p.L66V	NM_001100879.1	NP_001094349.1			suppressor of tumorigenicity 20											kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						GTAAGAGTCAGAAAAATTAGG	0.373													22	79					0	0	0	0	C	80191317	G	C	80191317	3	2	34	1	0	0	0	0	1	0	0	0	15303	933	33	2	47	2	ST20	15	80191317	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	5176117	80191317	22340075	240	6700											
AP3S2	10239	broad.mit.edu	37	chr15	90378779	90378779	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggttgggaactttgaTgttgagatcgccaatgttga	10	12	14	5	1	0	3	0	3	0	1	1	6	0	5	1	3	1	3	1	3	2	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:90378779T>G	ENST00000336418.4	-	6	942	c.550A>C	c.(550-552)Atc>Ctc	p.I184L	AP3S2_ENST00000560940.1_Intron|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.I385L|AP3S2_ENST00000558011.1_Missense_Mutation_p.I196L	NM_005829.4	NP_005820.1			adaptor-related protein complex 3, sigma 2 subunit											NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			GGAACTTTGATGTTGAGATCG	0.498													55	128					0	0	0	0	G	90378779	T	G	90378779	3	3	34	1	0	0	0	0	1	0	0	0	751	1464	51	5	35	5	AP3S2	15	90378779	Missense_Mutation	SNP	T	TCGA-BA-A6DJ-01A-11D-A30E-08	10187462	90378779	12152613	241	6701											
ADAMTS17	170691	broad.mit.edu	37	chr15	100537776	100537776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtcgccgagcaggggctCcacgggcctgccacccacct	6	4	13	18	3	0	0	0	0	0	0	2	1	1	0	6	4	2	2	6	4	0	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr15:100537776C>A	ENST00000268070.4	-	19	2715	c.2610G>T	c.(2608-2610)tgG>tgT	p.W870C		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	870	TSP type-1 3.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGCAGGGGCTCCACGGGCCTG	0.667													36	65					1.04594e-18	1.11642e-18	1	0	A	100537776	C	A	100537776	3	1	34	1	0	0	0	0	1	0	0	0	262	856	30	2	693	2	ADAMTS17	15	100537776	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	10158997	100537776	1993616	242	6702											
MSLNL	401827	broad.mit.edu	37	chr16	823222	823222	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgaggatgcagccatcCaggcaggactcaagctctgc	9	8	12	12	0	3	1	1	1	2	0	4	3	4	3	2	3	4	4	2	3	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:823222C>A	ENST00000293892.3	-	10	2045	c.2046G>T	c.(2044-2046)ctG>ctT	p.L682L	MSLNL_ENST00000442466.1_Silent_p.L331L			Q96KJ4	MSLNL_HUMAN	mesothelin-like	331					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGCAGCCATCCAGGCAGGACT	0.632													4	86					0.014758	0.0148329	1	0	A	823222	C	A	823222	2	1	34	1	0	0	0	0	0	0	0	1	9952	581	21	4		4	MSLNL	16	823222	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08		823222	89531531	243	6703											
NUBP2	10101	broad.mit.edu	37	chr16	1837974	1837974	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggacgtgaggcgcgagctGaccttctgtaggaagacggg	8	6	19	8	4	1	3	0	2	1	1	1	6	1	5	1	5	1	2	1	5	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:1837974G>A	ENST00000262302.9	+	5	642	c.522G>A	c.(520-522)ctG>ctA	p.L174L	NUBP2_ENST00000543305.1_Silent_p.L33L|NUBP2_ENST00000568706.1_Silent_p.L33L|NUBP2_ENST00000565134.1_Silent_p.L174L|NUBP2_ENST00000565987.1_Silent_p.L114L	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	174						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GGCGCGAGCTGACCTTCTGTA	0.682													29	106					0	0	0	0	A	1837974	G	A	1837974	2	1	34	1	0	0	0	0	0	0	0	1	10787	1277	45	2		2	NUBP2	16	1837974	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1014752	1837974	88516779	244	6704											
ZNF205	7755	broad.mit.edu	37	chr16	3168975	3168975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcctcgggctccagccGgcaggcaggagatgagaagg	9	4	18	10	2	0	3	0	2	0	2	2	5	1	3	3	6	1	3	3	6	1	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:3168975G>A	ENST00000382192.3	+	6	759	c.554G>A	c.(553-555)cGg>cAg	p.R185Q	RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R185Q	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	185	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GGCTCCAGCCGGCAGGCAGGA	0.667													52	140					0	0	0	0	A	3168975	G	A	3168975	3	1	34	1	0	0	0	0	1	0	0	0	17859	1116	39	1	572	1	ZNF205	16	3168975	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1331001	3168975	87185778	245	6705											
SNX29	92017	broad.mit.edu	37	chr16	12145726	12145726	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccaaatgcaaaaaggagcgGaagaagaaaaagaaagtgac	22	2	12	5	1	0	4	0	1	0	3	0	6	0	6	1	2	2	1	1	2	8	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:12145726G>C	ENST00000566228.1	+	8	840	c.771G>C	c.(769-771)cgG>cgC	p.R257R		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	349					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AAAAGGAGCGGAAGAAGAAAA	0.408													22	59					0	0	0	0	C	12145726	G	C	12145726	2	2	34	1	0	0	0	0	0	0	0	1	14986	1161	41	2		2	SNX29	16	12145726	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	8976751	12145726	78209027	246	6706											
ZNF689	115509	broad.mit.edu	37	chr16	30615770	30615770	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggccaggtggctccactGagcaaaacgcttggagcaaa	11	6	13	11	1	0	1	0	1	0	0	1	2	1	2	2	4	3	4	2	4	3	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:30615770G>A	ENST00000287461.3	-	3	1655	c.1318C>T	c.(1318-1320)Cag>Tag	p.Q440*	RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			TGGCTCCACTGAGCAAAACGC	0.677													5	17					0	0	0	0	A	30615770	G	A	30615770	4	1	34	1	0	0	0	0	0	1	0	0	18189	1299	45	2	188	2	ZNF689	16	30615770	Nonsense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	18470044	30615770	59738983	247	6707											
SLC5A2	6524	broad.mit.edu	37	chr16	31501731	31501731	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccgccccttacccaggagGaggcagcggcagcagccagg	8	3	14	16	2	0	0	0	0	0	0	1	2	1	2	5	5	4	3	5	5	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:31501731G>T	ENST00000330498.3	+	14	1913	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*	C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000570164.1_3'UTR|C16orf58_ENST00000567994.1_3'UTR|SLC5A2_ENST00000564197.1_Intron	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	632					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TACCCAGGAGGAGGCAGCGGC	0.672													11	19					6.40141e-05	6.5334e-05	1	0	T	31501731	G	T	31501731	4	4	34	1	0	0	0	0	0	1	0	0	14753	1175	41	2	1948	2	SLC5A2	16	31501731	Nonsense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	885961	31501731	58853022	248	6708											
SLC12A3	6559	broad.mit.edu	37	chr16	56904069	56904069	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgggggctccatcggcctCattttcgctttcgccaatgc	4	13	10	14	3	1	0	1	0	0	0	5	0	2	0	3	3	1	2	3	3	1	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:56904069C>T	ENST00000438926.2	+	5	692	c.663C>T	c.(661-663)ctC>ctT	p.L221L	SLC12A3_ENST00000563236.1_Silent_p.L221L|SLC12A3_ENST00000262502.5_Silent_p.L220L|SLC12A3_ENST00000566786.1_Silent_p.L220L	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	221					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCATCGGCCTCATTTTCGCTT	0.637													34	95					0	0	0	0	T	56904069	C	T	56904069	2	4	34	1	0	0	0	0	0	0	0	1	14472	813	29	2		2	SLC12A3	16	56904069	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	25402338	56904069	33450684	249	6709											
CNOT1	23019	broad.mit.edu	37	chr16	58589720	58589720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggttggatgtggtggatGattatatattcgctggaaat	10	15	13	3	1	0	1	0	1	0	0	1	4	0	4	0	5	0	2	0	5	4	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:58589720G>A	ENST00000317147.5	-	20	2904	c.2572C>T	c.(2572-2574)Cat>Tat	p.H858Y	CNOT1_ENST00000441024.2_Missense_Mutation_p.H858Y|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.H853Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	858					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTGGTGGATGATTATATATT	0.403													21	65					0	0	0	0	A	58589720	G	A	58589720	3	1	34	1	0	0	0	0	1	0	0	0	3647	1290	45	2	4900	2	CNOT1	16	58589720	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1685651	58589720	31765033	250	6710											
WDR59	79726	broad.mit.edu	37	chr16	74972117	74972117	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggtgccagtccaggccatgGattttggagaggtgggcggc	6	8	19	8	1	0	1	0	0	0	1	1	3	1	2	3	7	1	0	3	7	0	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:74972117G>A	ENST00000262144.6	-	8	712	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	194										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCAGGCCATGGATTTTGGAGA	0.493													28	127					0	0	0	0	A	74972117	G	A	74972117	2	1	34	1	0	0	0	0	0	0	0	1	17404	1164	41	2		2	WDR59	16	74972117	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	16382397	74972117	15382636	251	6711											
CLEC3A	10143	broad.mit.edu	37	chr16	78062034	78062034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctgaagactcaaattgAaaagctctggacagaagtca	17	8	9	7	0	4	5	2	2	2	3	4	6	4	6	0	1	1	1	0	1	5	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:78062034A>G	ENST00000299642.4	+	2	258	c.173A>G	c.(172-174)gAa>gGa	p.E58G	CLEC3A_ENST00000575655.1_Missense_Mutation_p.E49G|RP11-281J9.2_ENST00000563114.1_RNA	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	49					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						ACTCAAATTGAAAAGCTCTGG	0.438													31	70					0	0	0	0	G	78062034	A	G	78062034	3	3	34	1	0	0	0	0	1	0	0	0	3540	246	9	5	152	5	CLEC3A	16	78062034	Missense_Mutation	SNP	A	TCGA-BA-A6DJ-01A-11D-A30E-08	3089917	78062034	12292719	252	6712											
CMIP	80790	broad.mit.edu	37	chr16	81740626	81740626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctcttgtgcagccatgaaGagtctctgcagtttaaacat	10	13	9	9	0	2	2	0	1	2	1	4	2	2	2	1	0	4	3	1	0	3	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:81740626G>A	ENST00000537098.3	+	20	2277	c.2205G>A	c.(2203-2205)aaG>aaA	p.K735K	CMIP_ENST00000398040.4_Silent_p.K582K|CMIP_ENST00000539778.2_Silent_p.K641K|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	701						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CAGCCATGAAGAGTCTCTGCA	0.522													60	325					0	0	0	0	A	81740626	G	A	81740626	2	1	34	1	0	0	0	0	0	0	0	1	3608	933	33	2		2	CMIP	16	81740626	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	3678592	81740626	8614127	253	6713											
SDR42E1	93517	broad.mit.edu	37	chr16	82033179	82033179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatatggcccttgtcagctCtcagggcttctgaggccaga	8	10	11	12	0	3	2	2	1	2	1	4	2	3	2	2	3	1	2	2	3	2	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:82033179C>T	ENST00000328945.5	-	3	846	c.719G>A	c.(718-720)aGa>aAa	p.R240K		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	240					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CTTGTCAGCTCTCAGGGCTTC	0.557													8	179					0	0	0	0	T	82033179	C	T	82033179	3	4	34	1	0	0	0	0	1	0	0	0	14060	913	32	2	466	2	SDR42E1	16	82033179	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	292553	82033179	8321574	254	6714											
NECAB2	54550	broad.mit.edu	37	chr16	84030833	84030833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcaggcactgtggttcGacctgcagcagcgcctgtca	6	11	12	12	2	2	0	2	0	0	0	3	1	2	0	2	2	3	5	2	2	0	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr16:84030833G>T	ENST00000565691.1	+	7	1281	c.559G>T	c.(559-561)Gac>Tac	p.D187Y	NECAB2_ENST00000567703.1_3'UTR|NECAB2_ENST00000305202.4_Missense_Mutation_p.D270Y			Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	270					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						ACTGTGGTTCGACCTGCAGCA	0.617													16	65					1.99824e-07	2.08787e-07	1	0	T	84030833	G	T	84030833	3	4	34	1	0	0	0	0	1	0	0	0	10375	1058	37	3	842	3	NECAB2	16	84030833	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1997654	84030833	6323920	255	6715											
SGSM2	9905	broad.mit.edu	37	chr17	2275527	2275527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtatgaagaggcagatcGtgtcccgggccttctacggc	9	8	14	10	3	1	4	0	1	1	3	3	4	2	4	2	3	1	2	2	3	3	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:2275527G>A	ENST00000268989.3	+	14	1798	c.1621G>A	c.(1621-1623)Gtg>Atg	p.V541M	SGSM2_ENST00000574563.1_Missense_Mutation_p.V496M|SGSM2_ENST00000426855.2_Missense_Mutation_p.V496M	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	496						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GAGGCAGATCGTGTCCCGGGC	0.706													37	109					0	0	0	0	A	2275527	G	A	2275527	3	1	34	1	0	0	0	0	1	0	0	0	14310	1145	40	1	1675	1	SGSM2	17	2275527	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08		2275527	78919683	256	6716											
OR3A2	4995	broad.mit.edu	37	chr17	3181557	3181559	+	In_Frame_Del	DEL	TGA	TGA	-																															tgccacgtggctgtaggcagTgatgatgagaaccaaaggtg																										TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:3181557_3181559delTGA	ENST00000408891.2	-	1	709_711	c.671_673delTCA	c.(670-675)act>a	p.IT224del		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	224					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CTGTAGGCAGTGATGATGAGAAC	0.567													23	90	---	---	---	---					-	3181559	TGA	-	3181557	7	5	34	1	0	1	0	1	0	0	0	0	11109	1696	59	0	296	0	OR3A2	17	3181557	In_Frame_Del	DEL	TGA	TCGA-BA-A6DJ-01A-11D-A30E-08	906030	3181557	78013653	257	6717											
TRPV1	7442	broad.mit.edu	37	chr17	3489147	3489147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagttgaagtagaagatgCgcttgacgaatctgtcccac	12	9	12	8	2	1	4	0	2	1	2	2	6	2	5	1	1	1	3	1	1	5	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:3489147C>T	ENST00000174621.6	-	7	1581	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	TRPV1_ENST00000576351.1_Missense_Mutation_p.R423H|TRPV1_ENST00000310522.5_Missense_Mutation_p.R373H|TRPV1_ENST00000399759.3_Missense_Mutation_p.R433H|TRPV1_ENST00000399756.4_Missense_Mutation_p.R433H|TRPV1_ENST00000425167.2_Missense_Mutation_p.R444H|SHPK_ENST00000572705.1_Missense_Mutation_p.R433H|TRPV1_ENST00000571088.1_Missense_Mutation_p.R433H			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	433					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GTAGAAGATGCGCTTGACGAA	0.562													9	37					0	0	0	0	T	3489147	C	T	3489147	3	4	34	1	0	0	0	0	1	0	0	0	16690	768	27	1	930	1	TRPV1	17	3489147	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	307590	3489147	77706063	258	6718											
RABEP1	9135	broad.mit.edu	37	chr17	5238511	5238511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actatgagcaccagttccacCttaggctggagcaggagcga	11	7	12	11	1	0	1	0	1	0	0	1	4	1	3	3	3	3	4	3	3	2	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:5238511C>T	ENST00000262477.6	+	4	624	c.400C>T	c.(400-402)Ctt>Ttt	p.L134F	RABEP1_ENST00000570487.1_3'UTR|RABEP1_ENST00000341923.6_Missense_Mutation_p.L134F|RABEP1_ENST00000546142.2_Missense_Mutation_p.L134F|RABEP1_ENST00000408982.2_Missense_Mutation_p.L134F|RABEP1_ENST00000537505.1_Missense_Mutation_p.L91F	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	134					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CCAGTTCCACCTTAGGCTGGA	0.423													17	50					0	0	0	0	T	5238511	C	T	5238511	3	4	34	1	0	0	0	0	1	0	0	0	13043	681	24	4	414	4	RABEP1	17	5238511	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1749364	5238511	75956699	259	6719											
GPS2	2874	broad.mit.edu	37	chr17	7216583	7216583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gttccatctgcttttgcaagGacagggcaccaccaggctgg	8	9	12	12	0	1	0	0	0	1	0	2	1	2	1	3	4	2	5	3	4	1	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:7216583G>C	ENST00000380728.2	-	9	1052	c.752C>G	c.(751-753)tCc>tGc	p.S251C	RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.S251C|GPS2_ENST00000389167.5_Missense_Mutation_p.S251C			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	251					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CTTTTGCAAGGACAGGGCACC	0.552											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	118					0	0	0	0	C	7216583	G	C	7216583	3	2	34	1	0	0	0	0	1	0	0	0	6783	1174	41	2	243	2	GPS2	17	7216583	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1978072	7216583	73978627	260	6720											
GPS2	2874	broad.mit.edu	37	chr17	7216782	7216782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgcactgcagggaatgccGaaggagctgagaaaggaaaa	16	4	14	7	1	0	1	0	1	0	1	0	6	0	4	1	3	4	3	1	3	5	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:7216782G>A	ENST00000380728.2	-	8	941	c.641C>T	c.(640-642)tCg>tTg	p.S214L	RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.S214L|GPS2_ENST00000389167.5_Missense_Mutation_p.S214L			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	214					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				AGGGAATGCCGAAGGAGCTGA	0.507											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	94					0	0	0	0	A	7216782	G	A	7216782	3	1	34	1	0	0	0	0	1	0	0	0	6783	1059	37	1	358	1	GPS2	17	7216782	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	199	7216782	73978428	261	6721											
GPS2	2874	broad.mit.edu	37	chr17	7218340	7218340	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcgccctggccatggcgttgGaaagcttggggcgctccagg	5	7	17	12	3	0	0	0	0	0	0	1	1	1	1	3	6	1	3	3	6	1	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:7218340G>C	ENST00000380728.2	-	2	332	c.32C>G	c.(31-33)tCc>tGc	p.S11C	RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.S11C|GPS2_ENST00000389167.5_Missense_Mutation_p.S11C			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	11					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CATGGCGTTGGAAAGCTTGGG	0.711											OREG0006475	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=GPS2|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	4	10					0	0	0	0	C	7218340	G	C	7218340	3	2	34	1	0	0	0	0	1	0	0	0	6783	1174	41	2	991	2	GPS2	17	7218340	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1558	7218340	73976870	262	6722											
ALOXE3	59344	broad.mit.edu	37	chr17	8020224	8020224	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtccttgcggaagaaagcGtagcgctccttgtgtacacg	9	9	13	10	4	0	1	0	0	0	1	2	3	2	2	2	1	4	3	2	1	4	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:8020224G>A	ENST00000380149.1	-	2	720	c.690C>T	c.(688-690)taC>taT	p.Y230Y	ALOXE3_ENST00000448843.2_Silent_p.Y74Y|ALOXE3_ENST00000318227.3_Silent_p.Y206Y			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	74	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGAAGAAAGCGTAGCGCTCCT	0.557													27	48					0	0	0	0	A	8020224	G	A	8020224	2	1	34	1	0	0	0	0	0	0	0	1	542	1140	40	1		1	ALOXE3	17	8020224	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	801884	8020224	73174986	263	6723											
MAPK7	5598	broad.mit.edu	37	chr17	19283202	19283202	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactttaaacacgacaacAtcatcgccatcaaggacatc	16	7	5	13	2	2	0	2	0	0	0	4	2	2	1	1	1	3	1	1	1	4	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:19283202A>G	ENST00000308406.5	+	3	726	c.340A>G	c.(340-342)Atc>Gtc	p.I114V	MAPK7_ENST00000395604.3_Missense_Mutation_p.I114V|MAPK7_ENST00000395602.4_Missense_Mutation_p.I114V|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	114	Protein kinase.|Required for binding to MAP2K5 (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ACACGACAACATCATCGCCAT	0.522													40	102					0	0	0	0	G	19283202	A	G	19283202	3	3	34	1	0	0	0	0	1	0	0	0	9351	217	8	5	346	5	MAPK7	17	19283202	Missense_Mutation	SNP	A	TCGA-BA-A6DJ-01A-11D-A30E-08	11262978	19283202	61912008	264	6724											
USP22	23326	broad.mit.edu	37	chr17	20921341	20921341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgtcagacaggaagaagtCccgcagaagtggcgtgtggg	10	6	16	9	2	1	3	1	0	0	3	2	4	2	4	2	3	0	1	2	3	3	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:20921341C>A	ENST00000261497.4	-	5	807	c.604G>T	c.(604-606)Gac>Tac	p.D202Y	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Missense_Mutation_p.D190Y	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	202					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						AGGAAGAAGTCCCGCAGAAGT	0.567													31	93					6.84511e-11	7.20921e-11	1	0	A	20921341	C	A	20921341	3	1	34	1	0	0	0	0	1	0	0	0	17150	855	30	2	1009	2	USP22	17	20921341	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1638139	20921341	60273869	265	6725											
SUPT6H	6830	broad.mit.edu	37	chr17	27010070	27010070	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggcaaaccttccaagagaGagccaagttaaatataaccc	17	6	8	10	0	0	2	0	0	0	2	1	4	1	2	4	1	3	2	4	1	7	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:27010070G>C	ENST00000314616.6	+	15	2121	c.1838G>C	c.(1837-1839)aGa>aCa	p.R613T	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R613T	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	613					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTCCAAGAGAGAGCCAAGTTA	0.532													14	30					0	0	0	0	C	27010070	G	C	27010070	3	2	34	1	0	0	0	0	1	0	0	0	15490	942	33	2	1892	2	SUPT6H	17	27010070	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	6088729	27010070	54185140	266	6726											
AP2B1	163	broad.mit.edu	37	chr17	33932734	33932734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcttctcagttctctctttCcagacgtagtgaactgtatg	7	16	7	11	1	4	2	1	1	4	1	7	2	5	2	1	0	1	3	1	0	3	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:33932734C>G	ENST00000262325.7	+	4	707	c.154C>G	c.(154-156)Cca>Gca	p.P52A	AP2B1_ENST00000312678.8_Missense_Mutation_p.P52A|AP2B1_ENST00000589344.1_Missense_Mutation_p.P52A|AP2B1_ENST00000538556.1_5'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.P52A|AP2B1_ENST00000537622.2_Missense_Mutation_p.P52A	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	52					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTCTCTCTTTCCAGACGTAGT	0.438													20	88					0	0	0	0	G	33932734	C	G	33932734	3	3	34	1	0	0	0	0	1	0	0	0	742	855	30	2	164	2	AP2B1	17	33932734	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	6922664	33932734	47262476	267	6727											
PLXDC1	57125	broad.mit.edu	37	chr17	37235397	37235397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatccactcctggcgatagCggtcaaagccactggagcat	10	7	10	14	2	1	0	1	0	0	0	3	2	3	1	4	3	3	1	4	3	2	1	rs143709538		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:37235397C>T	ENST00000315392.4	-	10	1221	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.R297H|PLXDC1_ENST00000539608.1_3'UTR|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	337					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		p.R337H(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGGCGATAGCGGTCAAAGCC	0.532													14	67					0	0	0	0	T	37235397	C	T	37235397	3	4	34	1	0	0	0	0	1	0	0	0	12189	768	27	1	512	1	PLXDC1	17	37235397	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	3302663	37235397	43959813	268	6728											
MED24	9862	broad.mit.edu	37	chr17	38176142	38176142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaactgggtgtgggggccagCggtgcgagaccccaggatgg	7	5	20	9	2	0	1	0	0	0	1	0	4	0	2	3	6	3	0	3	6	1	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:38176142C>T	ENST00000394126.1	-	24	3242	c.2824G>A	c.(2824-2826)Gct>Act	p.A942T	MED24_ENST00000394128.2_Missense_Mutation_p.A917T|MED24_ENST00000501516.3_Missense_Mutation_p.A936T|MED24_ENST00000394127.2_Missense_Mutation_p.A904T|MED24_ENST00000356271.3_Missense_Mutation_p.A904T			O75448	MED24_HUMAN	mediator complex subunit 24	917					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGGGGGCCAGCGGTGCGAGAC	0.622													4	2					0	0	0	0	T	38176142	C	T	38176142	3	4	34	1	0	0	0	0	1	0	0	0	9511	768	27	1	228	1	MED24	17	38176142	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	940745	38176142	43019068	269	6729											
NAGLU	4669	broad.mit.edu	37	chr17	40693145	40693146	+	Frame_Shift_Del	DEL	CA	CA	-																															atctatggggccgacactttCaatgagatgcagccaccttc																								rs118204025		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:40693145_40693146delCA	ENST00000225927.2	+	5	1043_1044	c.942_943delCA	c.(940-945)ttatfs	p.FN314fs	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	314			F -> L (in MPS3B).			lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCGACACTTTCAATGAGATGCA	0.584													52	98	---	---	---	---					-	40693146	CA	-	40693145	7	5	34	1	0	1	0	1	0	0	0	0	10213	825	29	0	960	0	NAGLU	17	40693145	Frame_Shift_Del	DEL	CA	TCGA-BA-A6DJ-01A-11D-A30E-08	2517003	40693145	40502065	270	6730											
TMUB2	79089	broad.mit.edu	37	chr17	42266425	42266425	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagccaggccatggagctctCtgatgtcaccctcattgagg	8	9	11	13	0	3	2	2	2	1	0	4	3	3	3	3	3	2	1	3	3	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:42266425C>G	ENST00000319511.6	+	2	661	c.11C>G	c.(10-12)tCt>tGt	p.S4C	TMUB2_ENST00000538716.2_Missense_Mutation_p.S24C|TMUB2_ENST00000589184.1_Missense_Mutation_p.S4C|TMUB2_ENST00000587989.1_Missense_Mutation_p.S24C|TMUB2_ENST00000587172.1_Missense_Mutation_p.S4C|TMUB2_ENST00000592825.1_Missense_Mutation_p.S4C|TMUB2_ENST00000446571.3_Missense_Mutation_p.S4C|TMUB2_ENST00000590235.1_Missense_Mutation_p.S4C|TMUB2_ENST00000589856.1_Missense_Mutation_p.S4C|TMUB2_ENST00000589785.1_Missense_Mutation_p.S4C|TMUB2_ENST00000357984.3_Missense_Mutation_p.S4C	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	24						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ATGGAGCTCTCTGATGTCACC	0.572													24	41					0	0	0	0	G	42266425	C	G	42266425	3	3	34	1	0	0	0	0	1	0	0	0	16359	913	32	2	77	2	TMUB2	17	42266425	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1573280	42266425	38928785	271	6731			2	11		5	5	1661	C		4.574137e-09
TMUB2	79089	broad.mit.edu	37	chr17	42266824	42266824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcagcagcagtccagaggCccccctgagatctgaggata	11	5	13	12	0	1	3	0	2	1	2	2	5	2	4	4	3	2	3	4	3	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:42266824C>T	ENST00000319511.6	+	2	1060	c.410C>T	c.(409-411)gCc>gTc	p.A137V	TMUB2_ENST00000538716.2_Missense_Mutation_p.A157V|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000587989.1_Missense_Mutation_p.A157V|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000446571.3_Missense_Mutation_p.A100V|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589856.1_Missense_Mutation_p.A137V|TMUB2_ENST00000589785.1_Missense_Mutation_p.A137V|TMUB2_ENST00000357984.3_Missense_Mutation_p.A137V	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	157						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGTCCAGAGGCCCCCCTGAGA	0.607													24	79					0	0	0	0	T	42266824	C	T	42266824	3	4	34	1	0	0	0	0	1	0	0	0	16359	739	26	4	476	4	TMUB2	17	42266824	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	399	42266824	38928386	272	6732			2	11		5	5	1661	C		4.574137e-09
TMUB2	79089	broad.mit.edu	37	chr17	42266848	42266848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgagatctgaggatagcaCctgcctccctcccagccctg	7	8	9	17	0	1	2	0	2	1	1	3	4	3	3	6	1	3	1	6	1	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:42266848C>T	ENST00000319511.6	+	2	1084	c.434C>T	c.(433-435)aCc>aTc	p.T145I	TMUB2_ENST00000538716.2_Missense_Mutation_p.T165I|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000587989.1_Missense_Mutation_p.T165I|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000446571.3_Missense_Mutation_p.T108I|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589856.1_Missense_Mutation_p.T145I|TMUB2_ENST00000589785.1_Missense_Mutation_p.T145I|TMUB2_ENST00000357984.3_Missense_Mutation_p.T145I	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	165						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GAGGATAGCACCTGCCTCCCT	0.607													21	72					0	0	0	0	T	42266848	C	T	42266848	3	4	34	1	0	0	0	0	1	0	0	0	16359	507	18	4	500	4	TMUB2	17	42266848	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	24	42266848	38928362	273	6733			2	11		5	5	1661	C		4.574137e-09
TMUB2	79089	broad.mit.edu	37	chr17	42268014	42268014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacccccagggtcagctgttCcaggcccctcagcctccttg	5	8	9	19	0	2	0	2	0	0	0	4	0	4	0	7	2	2	2	7	2	0	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:42268014C>T	ENST00000319511.6	+	3	1338	c.688C>T	c.(688-690)Cca>Tca	p.P230S	TMUB2_ENST00000538716.2_Missense_Mutation_p.P250S|TMUB2_ENST00000589184.1_Missense_Mutation_p.S64F|TMUB2_ENST00000587989.1_Missense_Mutation_p.P250S|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000446571.3_Missense_Mutation_p.P193S|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.P230S|TMUB2_ENST00000357984.3_Missense_Mutation_p.P230S	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	250	Ubiquitin-like.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GTCAGCTGTTCCAGGCCCCTC	0.627													35	98					0	0	0	0	T	42268014	C	T	42268014	3	4	34	1	0	0	0	0	1	0	0	0	16359	855	30	2	758	2	TMUB2	17	42268014	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1166	42268014	38927196	274	6734			2	11		5	5	1661	C		4.574137e-09
TMUB2	79089	broad.mit.edu	37	chr17	42268085	42268085	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtcaatgtgggcagcctCatggtgcctgtctttgtggt	4	14	15	8	0	3	0	2	0	1	0	3	0	3	0	2	4	2	1	2	4	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:42268085C>T	ENST00000319511.6	+	3	1409	c.759C>T	c.(757-759)ctC>ctT	p.L253L	TMUB2_ENST00000538716.2_Silent_p.L273L|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000587989.1_Silent_p.L273L|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000446571.3_Silent_p.L216L|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Silent_p.L253L|TMUB2_ENST00000357984.3_Silent_p.L253L	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	273						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGGGCAGCCTCATGGTGCCTG	0.617													45	134					0	0	0	0	T	42268085	C	T	42268085	2	4	34	1	0	0	0	0	0	0	0	1	16359	813	29	2		2	TMUB2	17	42268085	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	71	42268085	38927125	275	6735			2	11		5	5	1661	C		4.574137e-09
LRRC37A2	474170	broad.mit.edu	37	chr17	44632664	44632664	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctaggatggactttcctCatttggacagccgctctggt	6	14	10	11	1	3	0	1	0	2	0	4	3	4	3	2	4	1	1	2	4	1	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:44632664C>G	ENST00000576629.1	+	14	5423	c.4928C>G	c.(4927-4929)tCa>tGa	p.S1643*	ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000336125.5_3'UTR|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron|LRRC37A2_ENST00000333412.3_Nonsense_Mutation_p.S1643*			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1643						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GGACTTTCCTCATTTGGACAG	0.418													4	205					0	0	0	0	G	44632664	C	G	44632664	4	3	34	1	0	0	0	0	0	1	0	0	9056	838	29	2	4978	2	LRRC37A2	17	44632664	Nonsense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	2364579	44632664	36562546	276	6736											
TUBD1	51174	broad.mit.edu	37	chr17	57955640	57955640	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgaagaaggagggcgtctGaagatcggtacaagtgagaa	15	6	15	5	2	1	5	0	3	1	3	2	7	1	6	0	3	1	1	0	3	6	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:57955640G>C	ENST00000325752.3	-	5	870	c.593C>G	c.(592-594)tCa>tGa	p.S198*	TUBD1_ENST00000376094.4_Nonsense_Mutation_p.S198*|TUBD1_ENST00000340993.6_Nonsense_Mutation_p.S198*|TUBD1_ENST00000394239.3_Nonsense_Mutation_p.S198*|TUBD1_ENST00000592426.1_Nonsense_Mutation_p.S198*|TUBD1_ENST00000539018.1_5'UTR|TUBD1_ENST00000346141.6_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	198					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GAGGGCGTCTGAAGATCGGTA	0.388													28	95					0	0	0	0	C	57955640	G	C	57955640	4	2	34	1	0	0	0	0	0	1	0	0	16858	1294	45	2	788	2	TUBD1	17	57955640	Nonsense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	13322976	57955640	23239570	277	6737											
TUBD1	51174	broad.mit.edu	37	chr17	57958381	57958382	+	Frame_Shift_Ins	INS	-	-	A																															cagccatactcattatgatgINSaaaaaaccactgaaagagtc																										TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:57958381_57958382insA	ENST00000325752.3	-	4	687_688	c.410_411insT	c.(409-411)tatfs	p.Y137fs	TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Frame_Shift_Ins_p.Y137fs|TUBD1_ENST00000376094.4_Frame_Shift_Ins_p.Y137fs|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000592426.1_Frame_Shift_Ins_p.Y137fs|TUBD1_ENST00000394239.3_Frame_Shift_Ins_p.Y137fs	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	137					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TCATTATGATGAAAAAACCACT	0.396													43	170	---	---	---	---					A	57958382	-	A	57958381	7	5	34	1	0	1	1	0	0	0	0	0	16858	1281	45	0	974	0	TUBD1	17	57958381	Frame_Shift_Ins	INS	-	TCGA-BA-A6DJ-01A-11D-A30E-08	2741	57958381	23236829	278	6738											
TUBD1	51174	broad.mit.edu	37	chr17	57958466	57958466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgcctgggtccatgaacaGagtaactatgcaatggcaaa	14	8	10	9	0	0	2	0	1	0	1	1	2	1	2	2	2	4	3	2	2	5	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:57958466G>A	ENST00000325752.3	-	4	603	c.326C>T	c.(325-327)tCt>tTt	p.S109F	TUBD1_ENST00000376094.4_Missense_Mutation_p.S109F|TUBD1_ENST00000340993.6_Missense_Mutation_p.S109F|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.S109F|TUBD1_ENST00000592426.1_Missense_Mutation_p.S109F|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000346141.6_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	109					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TCCATGAACAGAGTAACTATG	0.353													21	70					0	0	0	0	A	57958466	G	A	57958466	3	1	34	1	0	0	0	0	1	0	0	0	16858	942	33	2	1059	2	TUBD1	17	57958466	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	85	57958466	23236744	279	6739											
RPS6KB1	6198	broad.mit.edu	37	chr17	58013586	58013586	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctttaaagctgctgaaaaGaaatgctgcttctcgtctgg	10	13	9	9	1	3	2	0	1	3	1	4	2	3	2	0	1	4	4	0	1	5	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:58013586G>C	ENST00000225577.4	+	11	1010	c.989G>C	c.(988-990)aGa>aCa	p.R330T	RPS6KB1_ENST00000406116.3_Missense_Mutation_p.R330T|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.R277T|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.R307T	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	330	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			CTGCTGAAAAGAAATGCTGCT	0.408													22	76					0	0	0	0	C	58013586	G	C	58013586	3	2	34	1	0	0	0	0	1	0	0	0	13741	942	33	2	1031	2	RPS6KB1	17	58013586	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	55120	58013586	23181624	280	6740											
PPM1D	8493	broad.mit.edu	37	chr17	58740643	58740643	+	Frame_Shift_Del	DEL	A	A	-																															caaaaaaatttgaagatgtcAactcctggccaaatgaaagc																										TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:58740643delA	ENST00000305921.3	+	6	1780	c.1548delA	c.(1546-1548)tcfs	p.S516fs		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	516					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TGAAGATGTCAACTCCTGGCC	0.393											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	32	81	---	---	---	---					-	58740643	A	-	58740643	7	5	34	1	0	1	0	1	0	0	0	0	12413	117	5	0	1570	0	PPM1D	17	58740643	Frame_Shift_Del	DEL	A	TCGA-BA-A6DJ-01A-11D-A30E-08	727057	58740643	22454567	281	6741											
CBX2	84733	broad.mit.edu	37	chr17	77758764	77758764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgtatttgtcaccgacGtcactgccaacctcatcacc	10	9	6	16	3	4	0	4	0	0	0	4	1	4	0	4	0	3	2	4	0	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:77758764G>A	ENST00000310942.4	+	5	1626	c.1522G>A	c.(1522-1524)Gtc>Atc	p.V508I		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	508					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGTCACCGACGTCACTGCCAA	0.622													25	57					0	0	0	0	A	77758764	G	A	77758764	3	1	34	1	0	0	0	0	1	0	0	0	2743	1145	40	1	1888	1	CBX2	17	77758764	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	19018121	77758764	3436446	282	6742											
SGSH	6448	broad.mit.edu	37	chr17	78184371	78184371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggccagctggtcccgaagCatctccagaagctgagcaaa	11	7	11	12	1	1	2	0	1	1	1	3	3	2	2	3	2	4	4	3	2	3	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr17:78184371C>T	ENST00000326317.6	-	8	1475	c.1389G>A	c.(1387-1389)atG>atA	p.M463I	SGSH_ENST00000534910.1_Missense_Mutation_p.M260I	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	463					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGTCCCGAAGCATCTCCAGAA	0.687													7	26					0	0	0	0	T	78184371	C	T	78184371	3	4	34	1	0	0	0	0	1	0	0	0	14308	710	25	4	123	4	SGSH	17	78184371	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	425607	78184371	3010839	283	6743											
PTPRM	5797	broad.mit.edu	37	chr18	8088840	8088840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgcccacagcagaggagCacctgtcaggtatggaacag	12	5	12	12	0	1	1	1	0	0	1	1	3	1	3	3	3	4	3	3	3	2	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr18:8088840C>A	ENST00000332175.8	+	11	2884	c.1847C>A	c.(1846-1848)gCa>gAa	p.A616E	PTPRM_ENST00000400060.4_Missense_Mutation_p.A616E|PTPRM_ENST00000580170.1_Missense_Mutation_p.A616E|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400053.4_Missense_Mutation_p.A554E|PTPRM_ENST00000444013.1_Missense_Mutation_p.A403E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	616	Fibronectin type-III 4.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGCAGAGGAGCACCTGTCAGG	0.468													22	53					0.000175454	0.000178611	1	0	A	8088840	C	A	8088840	3	1	34	1	0	0	0	0	1	0	0	0	12888	710	25	4	1889	4	PTPRM	18	8088840	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08		8088840	69988408	284	6744											
ANKRD12	23253	broad.mit.edu	37	chr18	9211769	9211769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaggggcaaatgtgaatgtGaaagattttgcaggtaagac	14	11	13	3	0	0	4	0	2	0	2	0	4	0	4	0	3	1	3	0	3	5	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr18:9211769G>A	ENST00000383440.2	+	5	827	c.570G>A	c.(568-570)gtG>gtA	p.V190V	ANKRD12_ENST00000262126.3_Silent_p.V213V|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Silent_p.V190V	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	213						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATGTGAATGTGAAAGATTTTG	0.323													16	48					0	0	0	0	A	9211769	G	A	9211769	2	1	34	1	0	0	0	0	0	0	0	1	640	1277	45	2		2	ANKRD12	18	9211769	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1122929	9211769	68865479	285	6745											
GATA6	2627	broad.mit.edu	37	chr18	19762952	19762952	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttccacctcttctaactCagatgattgcagcaaaaata	15	11	4	11	0	3	2	1	1	2	1	4	2	4	2	2	0	4	2	2	0	5	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr18:19762952C>G	ENST00000269216.3	+	6	1845	c.1568C>G	c.(1567-1569)tCa>tGa	p.S523*	GATA6_ENST00000581694.1_Nonsense_Mutation_p.S523*	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	523					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			TCTTCTAACTCAGATGATTGC	0.388													25	85					0	0	0	0	G	19762952	C	G	19762952	4	3	34	1	0	0	0	0	0	1	0	0	6307	838	29	2	1586	2	GATA6	18	19762952	Nonsense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	10551183	19762952	58314296	286	6746											
RTTN	25914	broad.mit.edu	37	chr18	67860551	67860551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgctgcatcccagtcctggCcatctcctctgggtcgctgg	4	10	11	16	2	2	0	0	0	2	0	6	0	4	0	4	3	1	3	4	3	0	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr18:67860551C>T	ENST00000255674.6	-	8	1266	c.980G>A	c.(979-981)gGc>gAc	p.G327D	RTTN_ENST00000437017.1_Missense_Mutation_p.G327D|RTTN_ENST00000454359.1_Missense_Mutation_p.G327D	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	327							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CCAGTCCTGGCCATCTCCTCT	0.552													14	44					0	0	0	0	T	67860551	C	T	67860551	3	4	34	1	0	0	0	0	1	0	0	0	13822	739	26	4	5868	4	RTTN	18	67860551	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	48097599	67860551	10216697	287	6747											
SALL3	27164	broad.mit.edu	37	chr18	76754481	76754481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacgcggggtcctgcccGccctccccgccctcggtcat	2	8	10	21	5	1	0	1	0	0	0	5	0	4	0	7	3	2	0	7	3	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr18:76754481G>A	ENST00000536229.3	+	1	2800	c.2091G>A	c.(2089-2091)ccG>ccA	p.P697P	SALL3_ENST00000575389.2_Silent_p.P830P|SALL3_ENST00000537592.2_Silent_p.P830P			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGTCCTGCCCGCCCTCCCCGC	0.642													14	40					0	0	0	0	A	76754481	G	A	76754481	2	1	34	1	0	0	0	0	0	0	0	1	13897	1074	38	1		1	SALL3	18	76754481	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	8893930	76754481	1322767	288	6748											
ADNP2	22850	broad.mit.edu	37	chr18	77895275	77895275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggttccatgcccggcatgcCctctcctccagtgctggtga	4	10	11	16	2	1	1	0	1	1	0	4	1	3	1	5	3	3	3	5	3	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr18:77895275C>T	ENST00000262198.4	+	4	2434	c.1979C>T	c.(1978-1980)cCc>cTc	p.P660L		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	660					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCCGGCATGCCCTCTCCTCCA	0.632													33	62					0	0	0	0	T	77895275	C	T	77895275	3	4	34	1	0	0	0	0	1	0	0	0	324	623	22	4	1989	4	ADNP2	18	77895275	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1140794	77895275	181973	289	6749											
LPPR3	79948	broad.mit.edu	37	chr19	814640	814640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggttggggtcagggagggctCcccacgggtcagcaagaggg	7	5	20	9	1	2	1	2	0	0	1	3	2	3	2	2	7	1	3	2	7	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:814640C>T	ENST00000359894.2	-	6	772	c.709G>A	c.(709-711)Gag>Aag	p.E237K	LPPR3_ENST00000520876.3_Intron	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		219						integral to membrane	phosphatidate phosphatase activity										AGGGAGGGCTCCCCACGGGTC	0.652													4	90					0	0	0	0	T	814640	C	T	814640	3	4	34	1	0	0	0	0	1	0	0	0	8990	864	30	2	1539	2	LPPR3	19	814640	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08		814640	58314343	290	6750											
C19orf26	255057	broad.mit.edu	37	chr19	1235876	1235876	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaacagcgacatcaccacCaccagcagcacgtagttgtc	13	5	8	15	3	1	0	1	0	0	0	2	2	1	0	3	0	4	4	3	0	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:1235876C>T	ENST00000590083.1	-	3	439	c.147G>A	c.(145-147)gtG>gtA	p.V49V	C19orf26_ENST00000382477.2_Silent_p.V43V|C19orf26_ENST00000215376.6_Silent_p.V43V			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	43						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		ACATCACCACCACCAGCAGCA	0.667										HNSCC(14;0.022)			39	147					0	0	0	0	T	1235876	C	T	1235876	2	4	34	1	0	0	0	0	0	0	0	1	1934	581	21	4		4	C19orf26	19	1235876	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	421236	1235876	57893107	291	6751											
MBD3	53615	broad.mit.edu	37	chr19	1585084	1585084	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggagtcgtagcgcacGcgctggcggctcttgttcat	5	11	15	10	5	2	0	1	0	1	0	3	2	2	2	0	4	1	5	0	4	1	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:1585084G>A	ENST00000590550.2	-	1	445	c.72C>T	c.(70-72)cgC>cgT	p.R24R	MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000434436.3_Silent_p.R80R|MBD3_ENST00000156825.1_Silent_p.R80R|MBD3_ENST00000592012.1_Silent_p.R48R			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	80	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTAGCGCACGCGCTGGCGGC	0.662													8	44					0	0	0	0	A	1585084	G	A	1585084	2	1	34	1	0	0	0	0	0	0	0	1	9413	1074	38	1		1	MBD3	19	1585084	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	349208	1585084	57543899	292	6752											
AP3D1	8943	broad.mit.edu	37	chr19	2112870	2112870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcctcaccttgtcctggtCttgcccctcggcatcgtcct	3	12	8	18	2	2	0	1	0	1	0	6	0	4	0	6	2	2	1	6	2	0	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:2112870C>T	ENST00000355272.6	-	24	2982	c.2776G>A	c.(2776-2778)Gac>Aac	p.D926N	AP3D1_ENST00000356926.4_Missense_Mutation_p.D823N|AP3D1_ENST00000345016.5_Intron|AP3D1_ENST00000350812.6_Intron	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	872					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TTGTCCTGGTCTTGCCCCTCG	0.672													12	46					0	0	0	0	T	2112870	C	T	2112870	3	4	34	1	0	0	0	0	1	0	0	0	747	913	32	2	907	2	AP3D1	19	2112870	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	527786	2112870	57016113	293	6753											
SAFB2	9667	broad.mit.edu	37	chr19	5622611	5622611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcttcttcagctccgccCgcagatcgatcacccgcagc	6	8	8	19	5	3	1	2	0	1	1	6	2	5	1	4	0	2	4	4	0	0	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:5622611C>T	ENST00000252542.4	-	1	380	c.116G>A	c.(115-117)cGg>cAg	p.R39Q		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	39	SAP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CAGCTCCGCCCGCAGATCGAT	0.721													4	30					0	0	0	0	T	5622611	C	T	5622611	3	4	34	1	0	0	0	0	1	0	0	0	13892	652	23	1	2829	1	SAFB2	19	5622611	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	3509741	5622611	53506372	294	6754											
SAFB	6294	broad.mit.edu	37	chr19	5664425	5664425	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggagagaaggttcaaggtCaatgatgggagaacgagaag	16	5	16	4	1	2	4	2	1	0	3	2	8	2	5	0	4	1	1	0	4	5	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:5664425C>G	ENST00000292123.5	+	17	2416	c.2309C>G	c.(2308-2310)tCa>tGa	p.S770*	SAFB_ENST00000454510.1_Nonsense_Mutation_p.S701*|SAFB_ENST00000592224.1_Nonsense_Mutation_p.S769*|SAFB_ENST00000433404.1_Nonsense_Mutation_p.S600*|SAFB_ENST00000588852.1_Nonsense_Mutation_p.S770*|SAFB_ENST00000538656.1_Nonsense_Mutation_p.S612*	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	770	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGTTCAAGGTCAATGATGGGA	0.463													21	54					0	0	0	0	G	5664425	C	G	5664425	4	3	34	1	0	0	0	0	0	1	0	0	13891	838	29	2	2375	2	SAFB	19	5664425	Nonsense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	41814	5664425	53464558	295	6755											
OR2Z1	284383	broad.mit.edu	37	chr19	8841624	8841624	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggctgtcccatggtcaccatCcccaagatggcatcagactt	9	9	9	14	0	2	2	2	0	0	2	4	2	4	2	4	3	0	2	4	3	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:8841624C>T	ENST00000324060.2	+	1	309	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGTCACCATCCCCAAGATGG	0.547													32	99					0	0	0	0	T	8841624	C	T	8841624	2	4	34	1	0	0	0	0	0	0	0	1	11107	845	30	2		2	OR2Z1	19	8841624	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	3177199	8841624	50287359	296	6756											
ATG4D	84971	broad.mit.edu	37	chr19	10663612	10663612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccatgttcaccctggccGagggccatgctcaggaccac	8	6	10	17	1	2	0	2	0	0	0	2	2	2	1	6	3	1	2	6	3	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:10663612G>A	ENST00000309469.4	+	10	1467	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	ATG4D_ENST00000540862.1_Missense_Mutation_p.E99K	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	432					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	p.E432K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CACCCTGGCCGAGGGCCATGC	0.662													5	120					0	0	0	0	A	10663612	G	A	10663612	3	1	34	1	0	0	0	0	1	0	0	0	1103	1059	37	1	1332	1	ATG4D	19	10663612	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1821988	10663612	48465371	297	6757											
UPF1	5976	broad.mit.edu	37	chr19	18976359	18976379	+	Splice_Site	DEL	CTGTCTTTCAGGGCGAGGCAC	CTGTCTTTCAGGGCGAGGCAC	-																															cttcggatcaccctggactgCtgtctttcagggcgaggcac																										TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:18976359_18976379delCTGTCTTTCAGGGCGAGGCAC	ENST00000262803.5	+	22	3291_3301	c.3019_splice	c.e22-1	p.1007_splice	UPF1_ENST00000599848.1_Splice_Site_p.1018_splice	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1018					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCCTGGACTGCTGTCTTTCAGGGCGAGGCACCCCGAAAGGC	0.633													20	87	---	---	---	---					-	18976379	CTGTCTTTCAGGGCGAGGCAC	-	18976359	8	5	34	1	0	1	0	1	0	0	1	0	17099	812	28	0		0	UPF1	19	18976359	Splice_Site	DEL	CTGTCTTTCAGGGCGAGGCAC	TCGA-BA-A6DJ-01A-11D-A30E-08	8312747	18976359	40152624	298	6758											
ZNF208	7757	broad.mit.edu	37	chr19	22155264	22155264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacatttgtagggtttctCtccagtatgaattaccttat	9	18	6	8	0	2	1	1	1	1	0	4	1	3	1	2	1	1	3	2	1	5	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:22155264C>T	ENST00000397126.4	-	4	2720	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGGTTTCTCTCCAGTATGA	0.378													4	82					0	0	0	0	T	22155264	C	T	22155264	3	4	34	1	0	0	0	0	1	0	0	0	17861	922	32	2	1274	2	ZNF208	19	22155264	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	3178905	22155264	36973719	299	6759											
LRFN3	79414	broad.mit.edu	37	chr19	36430454	36430454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtcgctgcccctaagcGtgctgtgcccaggggcaggc	6	6	14	15	2	0	0	0	0	0	0	1	0	0	0	3	3	4	3	3	3	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:36430454G>A	ENST00000588831.1	+	3	1181	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	LRFN3_ENST00000246529.3_Missense_Mutation_p.V43M			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	43	LRRNT.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCCCTAAGCGTGCTGTGCCC	0.721													15	43					0	0	0	0	A	36430454	G	A	36430454	3	1	34	1	0	0	0	0	1	0	0	0	9003	1145	40	1	129	1	LRFN3	19	36430454	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	14275190	36430454	22698529	300	6760											
MAP4K1	11184	broad.mit.edu	37	chr19	39090609	39090609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggagtacacccacgtaGtccggctaggaaagagctgc	11	7	13	10	2	0	2	0	1	0	1	1	4	1	4	2	3	3	4	2	3	4	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:39090609G>A	ENST00000591517.1	-	22	1653	c.1625C>T	c.(1624-1626)aCt>aTt	p.T542I	MAP4K1_ENST00000423454.2_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000589130.1_Missense_Mutation_p.T538I|MAP4K1_ENST00000396857.2_Missense_Mutation_p.T542I|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	542	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACCCACGTAGTCCGGCTAGG	0.602													47	158					0	0	0	0	A	39090609	G	A	39090609	3	1	34	1	0	0	0	0	1	0	0	0	9328	1029	36	4	982	4	MAP4K1	19	39090609	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	2660155	39090609	20038374	301	6761											
FBXO27	126433	broad.mit.edu	37	chr19	39517588	39517588	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagaacagtctggttggcGtctagaagttggacgaggag	10	10	15	6	2	3	2	0	0	3	2	3	5	3	4	0	4	1	2	0	4	4	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:39517588G>A	ENST00000292853.4	-	5	749	c.630C>T	c.(628-630)gaC>gaT	p.D210D	FBXO27_ENST00000509137.2_Silent_p.D210D|FBXO27_ENST00000600828.1_Silent_p.D209D	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	210	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCTGGTTGGCGTCTAGAAGTT	0.562													69	150					0	0	0	0	A	39517588	G	A	39517588	2	1	34	1	0	0	0	0	0	0	0	1	5782	1136	40	1		1	FBXO27	19	39517588	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	426979	39517588	19611395	302	6762											
LIPE	3991	broad.mit.edu	37	chr19	42911576	42911576	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcggccacagctccaggctCcgttggccgttggactttat	5	10	12	14	4	0	0	0	0	0	0	2	1	2	1	4	4	1	4	4	4	1	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:42911576C>T	ENST00000244289.4	-	6	2163	c.1887G>A	c.(1885-1887)cgG>cgA	p.R629R	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	629					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)				GCTCCAGGCTCCGTTGGCCGT	0.667													15	45					0	0	0	0	T	42911576	C	T	42911576	2	4	34	1	0	0	0	0	0	0	0	1	8876	842	30	2		2	LIPE	19	42911576	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	3393988	42911576	16217407	303	6763											
SYMPK	8189	broad.mit.edu	37	chr19	46330777	46330777	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggggatcaccttgtccttCtcatgggagctgaggtcgag	7	10	15	9	1	2	1	2	1	1	0	5	5	3	3	2	4	1	1	2	4	0	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:46330777C>T	ENST00000245934.7	-	16	2416	c.2172G>A	c.(2170-2172)gaG>gaA	p.E724E		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	724					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCTTGTCCTTCTCATGGGAGC	0.597													13	42					0	0	0	0	T	46330777	C	T	46330777	2	4	34	1	0	0	0	0	0	0	0	1	15530	912	32	2		2	SYMPK	19	46330777	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	3419201	46330777	12798206	304	6764											
SAE1	10055	broad.mit.edu	37	chr19	47656163	47656163	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttctgcaggtgtgtctGacttgctgctccagggatgt	4	16	12	9	0	3	1	0	1	3	0	4	2	4	2	1	2	3	3	1	2	0	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:47656163G>C	ENST00000413379.3	+	4	495	c.393G>C	c.(391-393)ctG>ctC	p.L131L	SAE1_ENST00000270225.7_Silent_p.L131L|SAE1_ENST00000392776.3_Silent_p.L131L|SAE1_ENST00000540850.1_Intron|SAE1_ENST00000598840.1_Intron	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	131					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		AGGTGTGTCTGACTTGCTGCT	0.398													7	189					0	0	0	0	C	47656163	G	C	47656163	2	2	34	1	0	0	0	0	0	0	0	1	13890	1277	45	2		2	SAE1	19	47656163	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1325386	47656163	11472820	305	6765											
SULT2B1	6820	broad.mit.edu	37	chr19	49079249	49079249	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagggcgtccccttccccgtCggcctgtactcgctcgagag	5	8	12	16	5	0	1	0	0	0	1	5	2	2	1	5	2	1	2	5	2	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:49079249C>T	ENST00000323090.4	+	1	453	c.78C>T	c.(76-78)gtC>gtT	p.V26V	SULT2B1_ENST00000201586.2_Silent_p.V41V	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	41					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CCTTCCCCGTCGGCCTGTACT	0.592													6	144					0	0	0	0	T	49079249	C	T	49079249	2	4	34	1	0	0	0	0	0	0	0	1	15472	871	31	1		1	SULT2B1	19	49079249	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1423086	49079249	10049734	306	6766											
SIGLEC8	27181	broad.mit.edu	37	chr19	51961243	51961243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcaactgtgatttgtaactCcatttcatgcttcctctctc	7	18	4	12	0	3	1	2	1	1	0	7	1	5	1	2	0	3	2	2	0	2	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:51961243C>G	ENST00000321424.3	-	1	465	c.399G>C	c.(397-399)tgG>tgC	p.W133C	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.W133C|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.W133C	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	133					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.W133C(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATTTGTAACTCCATTTCATGC	0.502													5	164					0	0	0	0	G	51961243	C	G	51961243	3	3	34	1	0	0	0	0	1	0	0	0	14402	856	30	2	1128	2	SIGLEC8	19	51961243	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	2881994	51961243	7167740	307	6767											
ZNF766	90321	broad.mit.edu	37	chr19	52772874	52772874	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcgtggagatatggcgcAactgcggcgcgtgagttttc	7	10	16	8	5	0	2	0	1	0	1	1	3	0	2	0	4	2	2	0	4	2	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:52772874A>C	ENST00000439461.1	+	1	51	c.8A>C	c.(7-9)cAa>cCa	p.Q3P	ZNF766_ENST00000599581.1_Missense_Mutation_p.Q3P	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GATATGGCGCAACTGCGGCGC	0.657													16	57					0	0	0	0	C	52772874	A	C	52772874	3	2	34	1	0	0	0	0	1	0	0	0	18234	130	5	5	10	5	ZNF766	19	52772874	Missense_Mutation	SNP	A	TCGA-BA-A6DJ-01A-11D-A30E-08	811631	52772874	6356109	308	6768											
ZNF468	90333	broad.mit.edu	37	chr19	53352349	53352349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatcctcacccagggagaCgaggttcctataattctcca	10	11	8	12	1	2	1	1	0	1	1	5	3	4	1	4	2	0	2	4	2	3	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:53352349C>T	ENST00000595646.1	-	3	253	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	ZNF468_ENST00000396409.4_5'UTR|ZNF468_ENST00000390651.4_5'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_Missense_Mutation_p.V45I			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V45I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCCAGGGAGACGAGGTTCCTA	0.483													43	268					0	0	0	0	T	53352349	C	T	53352349	3	4	34	1	0	0	0	0	1	0	0	0	18023	536	19	1	1443	1	ZNF468	19	53352349	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	579475	53352349	5776634	309	6769											
ZNF347	84671	broad.mit.edu	37	chr19	53643891	53643891	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaggtttttttccagtatgGattgcctgatgggtagttag	8	17	12	4	0	0	1	0	1	0	0	1	2	1	2	2	3	1	4	2	3	4	8			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:53643891G>A	ENST00000452676.2	-	5	2619	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	ZNF347_ENST00000601469.2_Silent_p.I731I|ZNF347_ENST00000334197.7_Silent_p.I730I|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	730					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTCCAGTATGGATTGCCTGAT	0.438													47	145					0	0	0	0	A	53643891	G	A	53643891	2	1	34	1	0	0	0	0	0	0	0	1	17956	1164	41	2		2	ZNF347	19	53643891	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	291542	53643891	5485092	310	6770											
EPN1	29924	broad.mit.edu	37	chr19	56206609	56206609	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tccgtctcagtcctgtgcctCccgtccctggagcgccaccc	3	9	9	20	3	1	0	1	0	1	0	6	1	5	1	7	1	2	0	7	1	0	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:56206609C>G	ENST00000411543.2	+	11	2423	c.1876C>G	c.(1876-1878)Ccc>Gcc	p.P626A	EPN1_ENST00000270460.6_Missense_Mutation_p.P540A|EPN1_ENST00000085079.7_Missense_Mutation_p.P514A	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	540					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		TCCTGTGCCTCCCGTCCCTGG	0.716													9	28					0	0	0	0	G	56206609	C	G	56206609	3	3	34	1	0	0	0	0	1	0	0	0	5223	855	30	2	1997	2	EPN1	19	56206609	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	2562718	56206609	2922374	311	6771											
ZNF606	80095	broad.mit.edu	37	chr19	58489953	58489953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagtatgagttctccGgtgtgcaatgaggtgagaac	9	11	12	9	1	2	3	0	3	2	1	4	4	2	3	2	2	2	3	2	2	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:58489953G>A	ENST00000341164.4	-	7	2715	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	ZNF606_ENST00000536132.1_Missense_Mutation_p.R609W	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGAGTTCTCCGGTGTGCAATG	0.408													20	72					0	0	0	0	A	58489953	G	A	58489953	3	1	34	1	0	0	0	0	1	0	0	0	18127	1115	39	1	287	1	ZNF606	19	58489953	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	2283344	58489953	639030	312	6772											
ZSCAN18	65982	broad.mit.edu	37	chr19	58601584	58601584	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcgtgggcagatccggCggggctggggagctcctggg	3	5	21	12	4	0	1	0	0	0	1	2	2	2	2	3	8	1	3	3	8	0	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr19:58601584C>T	ENST00000240727.6	-	2	450	c.51G>A	c.(49-51)ccG>ccA	p.P17P	ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000600404.1_Silent_p.P73P|ZSCAN18_ENST00000601144.1_Silent_p.P17P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	17					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCAGATCCGGCGGGGCTGGGG	0.627													40	94					0	0	0	0	T	58601584	C	T	58601584	2	4	34	1	0	0	0	0	0	0	0	1	18322	755	27	1		1	ZSCAN18	19	58601584	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	111631	58601584	527399	313	6773											
CPXM1	56265	broad.mit.edu	37	chr20	2776783	2776783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggttgttccagcggccctCggcccagcccaccagctctg	4	8	11	18	2	1	0	0	0	1	0	3	0	2	0	5	3	3	3	5	3	0	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr20:2776783C>T	ENST00000380605.2	-	10	1331	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	423					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGCGGCCCTCGGCCCAGCCC	0.592													6	107					0	0	0	0	T	2776783	C	T	2776783	3	4	34	1	0	0	0	0	1	0	0	0	3867	893	31	1	957	1	CPXM1	20	2776783	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08		2776783	60248737	314	6774											
JAG1	182	broad.mit.edu	37	chr20	10625900	10625900	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctcatcacactgactGtcacctggaggaaaatattt	11	11	9	10	0	3	1	3	1	0	0	3	3	3	3	2	3	0	0	2	3	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr20:10625900G>A	ENST00000254958.5	-	17	2633	c.2118C>T	c.(2116-2118)gaC>gaT	p.D706D	JAG1_ENST00000423891.2_Silent_p.D547D|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	706	EGF-like 13.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACACTGACTGTCACCTGGAG	0.547									Alagille Syndrome				17	65					0	0	0	0	A	10625900	G	A	10625900	2	1	34	1	0	0	0	0	0	0	0	1	7987	1368	48	4		4	JAG1	20	10625900	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	7849117	10625900	52399620	315	6775											
RIN2	54453	broad.mit.edu	37	chr20	19955493	19955493	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtgctttattaatccccTtttcttgaaagtgcacagcc	8	15	6	12	0	1	1	0	1	1	0	2	1	2	1	4	0	3	2	4	0	3	6			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr20:19955493T>C	ENST00000255006.6	+	8	1120	c.971T>C	c.(970-972)cTt>cCt	p.L324P	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	275					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ATTAATCCCCTTTTCTTGAAA	0.567													16	39					0	0	0	0	C	19955493	T	C	19955493	3	2	34	1	0	0	0	0	1	0	0	0	13457	1609	56	5	850	5	RIN2	20	19955493	Missense_Mutation	SNP	T	TCGA-BA-A6DJ-01A-11D-A30E-08	9329593	19955493	43070027	316	6776											
NCOA6	23054	broad.mit.edu	37	chr20	33330812	33330812	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcacggaggcaggtcctTgcagactgaccatgacaggc	9	6	15	11	1	0	3	0	2	0	1	1	4	1	4	2	5	1	3	2	5	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr20:33330812T>A	ENST00000374796.2	-	12	5818	c.3248A>T	c.(3247-3249)cAa>cTa	p.Q1083L	NCOA6_ENST00000359003.2_Missense_Mutation_p.Q1083L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1083	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGCAGGTCCTTGCAGACTGAC	0.527													45	109					0	0	0	0	A	33330812	T	A	33330812	3	1	34	1	0	0	0	0	1	0	0	0	10303	1812	63	5	2963	5	NCOA6	20	33330812	Missense_Mutation	SNP	T	TCGA-BA-A6DJ-01A-11D-A30E-08	13375319	33330812	29694708	317	6777											
MC3R	4159	broad.mit.edu	37	chr20	54824313	54824313	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgcaacctcctggccatCgccgtcgacaggtacgtcac	8	8	9	16	4	2	0	1	0	1	0	5	1	3	0	4	2	3	2	4	2	2	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr20:54824313C>T	ENST00000243911.2	+	1	526	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	175					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCCTGGCCATCGCCGTCGACA	0.567													31	66					0	0	0	0	T	54824313	C	T	54824313	2	4	34	1	0	0	0	0	0	0	0	1	9434	874	31	1		1	MC3R	20	54824313	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	21493501	54824313	8201207	318	6778											
MCM3AP	8888	broad.mit.edu	37	chr21	47660785	47660785	+	Missense_Mutation	SNP	T	T	A																															aacactgcgccaagagctccTcagcagaagctcctcgcatc																										TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr21:47660785T>A	ENST00000397708.1	-	27	5827	c.5573A>T	c.(5572-5574)gAg>gTg	p.E1858V	MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1858V			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1858					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAAGAGCTCCTCAGCAGAAGC	0.517													7	153					0	0	0	0	A	47660785	T	A	47660785	3	1	34	1	0	0	0	0	1	0	0	0	9457	1551	54	5	381	5	MCM3AP	21	47660785	Missense_Mutation	SNP	T	TCGA-BA-A6DJ-01A-11D-A30E-08		47660785	469110	319	6779	61	2									
MCM3AP	8888	broad.mit.edu	37	chr21	47660786	47660786	+	Missense_Mutation	SNP	C	C	T																															acactgcgccaagagctcctCagcagaagctcctcgcatca																										TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr21:47660786C>T	ENST00000397708.1	-	27	5826	c.5572G>A	c.(5572-5574)Gag>Aag	p.E1858K	MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1858K			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1858					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAGAGCTCCTCAGCAGAAGCT	0.512													7	153					0	0	0	0	T	47660786	C	T	47660786	3	4	34	1	0	0	0	0	1	0	0	0	9457	835	29	2	382	2	MCM3AP	21	47660786	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1	47660786	469109	320	6780	61	2									
MCM3AP	8888	broad.mit.edu	37	chr21	47660829	47660829	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcctctgtgctgggaatcctCccctcttgagcacactctgt	5	13	8	15	0	3	1	0	1	3	0	6	2	6	2	4	1	2	2	4	1	1	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr21:47660829C>T	ENST00000397708.1	-	27	5783	c.5529G>A	c.(5527-5529)ggG>ggA	p.G1843G	MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.G1843G			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1843					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGGAATCCTCCCCTCTTGAG	0.502													5	163					0	0	0	0	T	47660829	C	T	47660829	2	4	34	1	0	0	0	0	0	0	0	1	9457	842	30	2		2	MCM3AP	21	47660829	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	43	47660829	469066	321	6781											
DGCR8	54487	broad.mit.edu	37	chr22	20094894	20094894	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttactgcgcatgtatggCcgtgagagcagcaagatggt	9	11	13	8	2	1	2	0	1	1	2	1	3	1	2	1	2	4	4	1	2	3	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:20094894C>T	ENST00000351989.3	+	12	2526	c.2097C>T	c.(2095-2097)ggC>ggT	p.G699G	DGCR8_ENST00000407755.1_Silent_p.G666G|DGCR8_ENST00000383024.2_Silent_p.G666G	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	699	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GCATGTATGGCCGTGAGAGCA	0.552													4	153					0	0	0	0	T	20094894	C	T	20094894	2	4	34	1	0	0	0	0	0	0	0	1	4501	726	26	4		4	DGCR8	22	20094894	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08		20094894	31209672	322	6782											
ZDHHC8	29801	broad.mit.edu	37	chr22	20132802	20132802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcttaatgggcagtcccCgggcctggcccggctgggac	6	7	15	13	2	0	0	0	0	0	0	1	1	1	1	4	5	1	3	4	5	2	2	rs148311753	by1000genomes	TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:20132802C>T	ENST00000334554.7	+	11	2318	c.2177C>T	c.(2176-2178)cCg>cTg	p.P726L	ZDHHC8_ENST00000405930.3_Intron|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P634L	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	726						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGGCAGTCCCCGGGCCTGGCC	0.632													68	258					0	0	0	0	T	20132802	C	T	20132802	3	4	34	1	0	0	0	0	1	0	0	0	17716	652	23	1	2219	1	ZDHHC8	22	20132802	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	37908	20132802	31171764	323	6783											
SLC7A4	6545	broad.mit.edu	37	chr22	21385560	21385560	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccacaggagacaaaggcaGaggccaggaggatgatgcca	14	3	14	10	0	0	3	0	1	0	2	1	6	1	5	3	5	1	1	3	5	1	0			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:21385560G>C	ENST00000382932.2	-	2	609	c.542C>G	c.(541-543)tCt>tGt	p.S181C	SLC7A4_ENST00000403586.1_Missense_Mutation_p.S181C	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	181				THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263).	cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GACAAAGGCAGAGGCCAGGAG	0.597													26	44					0	0	0	0	C	21385560	G	C	21385560	3	2	34	1	0	0	0	0	1	0	0	0	14787	942	33	2	1381	2	SLC7A4	22	21385560	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1252758	21385560	29919006	324	6784											
CCDC116	164592	broad.mit.edu	37	chr22	21989155	21989155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacaggagccaatcttccGcaagcgagagttcaataagg	15	6	11	9	2	2	2	1	0	1	2	3	4	3	3	2	2	3	2	2	2	5	3	rs147529801		TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:21989155G>A	ENST00000292779.3	+	4	964	c.803G>A	c.(802-804)cGc>cAc	p.R268H		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	268										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCAATCTTCCGCAAGCGAGAG	0.602													35	145					0	0	0	0	A	21989155	G	A	21989155	3	1	34	1	0	0	0	0	1	0	0	0	2778	1087	38	1	813	1	CCDC116	22	21989155	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	603595	21989155	29315411	325	6785											
SGSM1	129049	broad.mit.edu	37	chr22	25264737	25264737	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagccctcagggttctgcCgagtccacatcttcagacaa	10	8	9	14	2	4	1	2	0	2	1	5	3	5	1	3	1	2	1	3	1	2	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:25264737C>T	ENST00000400358.4	+	12	1263	c.1206C>T	c.(1204-1206)gcC>gcT	p.A402A	SGSM1_ENST00000400359.4_Silent_p.A402A	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	402						Golgi apparatus	Rab GTPase activator activity	p.A402A(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGGGTTCTGCCGAGTCCACAT	0.517													4	149					0	0	0	0	T	25264737	C	T	25264737	2	4	34	1	0	0	0	0	0	0	0	1	14309	639	23	1		1	SGSM1	22	25264737	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	3275582	25264737	26039829	326	6786											
MYO18B	84700	broad.mit.edu	37	chr22	26423371	26423371	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcatccactttgaaacGgaagaggctaaccgttcctt	12	10	8	11	2	1	2	1	1	0	1	3	3	3	3	3	2	3	3	3	2	4	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:26423371G>A	ENST00000335473.7	+	43	7681	c.7431G>A	c.(7429-7431)acG>acA	p.T2477T	MYO18B_ENST00000407587.2_Silent_p.T2478T|MYO18B_ENST00000536101.1_Silent_p.T2477T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2477						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACTTTGAAACGGAAGAGGCTA	0.557													27	68					0	0	0	0	A	26423371	G	A	26423371	2	1	34	1	0	0	0	0	0	0	0	1	10136	1103	39	1		1	MYO18B	22	26423371	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	1158634	26423371	24881195	327	6787											
EMID1	129080	broad.mit.edu	37	chr22	29611568	29611568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtacaagatagtgaccGcccgtgagtggaggtgctgc	9	9	15	8	2	0	4	0	3	0	1	0	5	0	5	2	2	3	2	2	2	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:29611568G>A	ENST00000334018.6	+	3	456	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	EMID1_ENST00000404820.3_Missense_Mutation_p.A90T|EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Missense_Mutation_p.A90T	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	90	EMI.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GATAGTGACCGCCCGTGAGTG	0.627													22	65					0	0	0	0	A	29611568	G	A	29611568	3	1	34	1	0	0	0	0	1	0	0	0	5129	1087	38	1	278	1	EMID1	22	29611568	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	3188197	29611568	21692998	328	6788											
MYH9	4627	broad.mit.edu	37	chr22	36708234	36708234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggggaaccagcactcctCgtccagcagggccagaatgc	9	7	12	13	1	0	1	0	0	0	1	3	2	2	2	4	3	4	2	4	3	2	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:36708234C>T	ENST00000216181.5	-	14	1818	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	530	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.E530K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGCACTCCTCGTCCAGCAGG	0.637			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				28	69					0	0	0	0	T	36708234	C	T	36708234	3	4	34	1	0	0	0	0	1	0	0	0	10112	893	31	1	4406	1	MYH9	22	36708234	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	7096666	36708234	14596332	329	6789											
MYH9	4627	broad.mit.edu	37	chr22	36710351	36710351	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaattgatgcacagctgctCaaacgagttcagctgcaagg	12	9	11	9	1	2	1	2	1	0	0	2	2	2	1	0	1	6	7	0	1	3	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:36710351C>G	ENST00000216181.5	-	13	1623	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	465	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CACAGCTGCTCAAACGAGTTC	0.547			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				4	93					0	0	0	0	G	36710351	C	G	36710351	3	3	34	1	0	0	0	0	1	0	0	0	10112	835	29	2	4605	2	MYH9	22	36710351	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	2117	36710351	14594215	330	6790											
GGA1	26088	broad.mit.edu	37	chr22	38012933	38012933	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgttcctcccacccaggcctCcactcgccacccggctgctg	4	8	8	21	2	0	0	0	0	0	0	4	0	3	0	7	2	1	3	7	2	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:38012933C>G	ENST00000343632.4	+	3	519	c.133C>G	c.(133-135)Cca>Gca	p.P45A	GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Missense_Mutation_p.P45A|GGA1_ENST00000381756.5_Missense_Mutation_p.P45A|GGA1_ENST00000337437.4_Missense_Mutation_p.P45A|GGA1_ENST00000325180.8_Missense_Mutation_p.P45A|GGA1_ENST00000414350.3_Missense_Mutation_p.P45A	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	45	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					ACCCAGGCCTCCACTCGCCAC	0.682													5	12					0	0	0	0	G	38012933	C	G	38012933	3	3	34	1	0	0	0	0	1	0	0	0	6403	855	30	2	143	2	GGA1	22	38012933	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	1302582	38012933	13291633	331	6791											
ATF4	468	broad.mit.edu	37	chr22	39917485	39917485	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgagcagcgaggtgtTggtgggggacttgatgtccc	5	11	16	9	1	0	2	0	2	0	0	2	4	2	3	2	4	2	2	2	4	0	3			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:39917485T>C	ENST00000337304.2	+	1	917	c.35T>C	c.(34-36)tTg>tCg	p.L12S	ATF4_ENST00000396680.1_Missense_Mutation_p.L12S|ATF4_ENST00000404241.2_Missense_Mutation_p.L12S	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	12					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					AGCGAGGTGTTGGTGGGGGAC	0.517													36	105					0	0	0	0	C	39917485	T	C	39917485	3	2	34	1	0	0	0	0	1	0	0	0	1086	1821	63	5	37	5	ATF4	22	39917485	Missense_Mutation	SNP	T	TCGA-BA-A6DJ-01A-11D-A30E-08	1904552	39917485	11387081	332	6792											
PKDREJ	10343	broad.mit.edu	37	chr22	46654578	46654578	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttcggaatggacatcctGatcatcttctatgttgttat	8	17	8	8	1	3	1	1	1	2	0	5	3	4	3	1	2	0	3	1	2	3	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:46654578G>C	ENST00000253255.5	-	1	4641	c.4642C>G	c.(4642-4644)Cag>Gag	p.Q1548E		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1548					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGGACATCCTGATCATCTTCT	0.488													61	195					0	0	0	0	C	46654578	G	C	46654578	3	2	34	1	0	0	0	0	1	0	0	0	12042	1299	45	2	2123	2	PKDREJ	22	46654578	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	6737093	46654578	4649988	333	6793											
TUBGCP6	85378	broad.mit.edu	37	chr22	50656375	50656375	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaagtgggagtagtacttGaaggtgttgtaggactgctg	11	11	16	3	0	0	2	0	1	0	1	0	4	0	4	0	3	2	5	0	3	5	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:50656375G>A	ENST00000248846.5	-	24	5444	c.5340C>T	c.(5338-5340)ttC>ttT	p.F1780F	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1780					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGTAGTACTTGAAGGTGTTGT	0.657													4	108					0	0	0	0	A	50656375	G	A	50656375	2	1	34	1	0	0	0	0	0	0	0	1	16866	1281	45	2		2	TUBGCP6	22	50656375	Silent	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	4001797	50656375	648191	334	6794											
PLXNB2	23654	broad.mit.edu	37	chr22	50722091	50722091	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggccggccacagagatcCtctggatgtcccctgcttgg	5	9	12	15	2	1	1	0	0	1	1	4	3	4	2	6	4	1	1	6	4	0	1			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chr22:50722091C>G	ENST00000449103.1	-	15	2650	c.2510G>C	c.(2509-2511)aGg>aCg	p.R837T	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Missense_Mutation_p.R837T			O15031	PLXB2_HUMAN	plexin B2	837	IPT/TIG 1.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACAGAGATCCTCTGGATGTC	0.647													18	46					0	0	0	0	G	50722091	C	G	50722091	3	3	34	1	0	0	0	0	1	0	0	0	12196	681	24	4	3098	4	PLXNB2	22	50722091	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	65716	50722091	582475	335	6795											
RBBP7	5931	broad.mit.edu	37	chrX	16887263	16887263	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagcatgggtcataaccaGgtcatatagaaacggtgtat	15	9	11	6	1	2	2	2	0	0	2	2	2	2	2	1	3	3	2	1	3	6	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:16887263G>C	ENST00000380087.2	-	2	457	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	RBBP7_ENST00000404022.1_Missense_Mutation_p.L33V|RBBP7_ENST00000380084.4_Missense_Mutation_p.L77V			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	33					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					GTCATAACCAGGTCATATAGA	0.403													38	24					0	0	0	0	C	16887263	G	C	16887263	3	2	34	1	0	0	0	0	1	0	0	0	13186	991	35	4	1224	4	RBBP7	23	16887263	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08		16887263	138383297	336	6796											
ZNF41	7592	broad.mit.edu	37	chrX	47307709	47307709	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttctctccggtgtgaattCtttgatgcacatggagttgt	6	17	11	7	1	2	2	0	2	2	0	4	3	3	3	1	2	1	3	1	2	1	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:47307709C>G	ENST00000377065.4	-	5	2099	c.1460G>C	c.(1459-1461)aGa>aCa	p.R487T	ZNF41_ENST00000397050.2_Missense_Mutation_p.R497T|ZNF41_ENST00000313116.7_Missense_Mutation_p.R487T	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	529						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GGTGTGAATTCTTTGATGCAC	0.423													3	42					0	0	0	0	G	47307709	C	G	47307709	3	3	34	1	0	0	0	0	1	0	0	0	17984	913	32	2	883	2	ZNF41	23	47307709	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	30420446	47307709	107962851	337	6797											
SPIN4	139886	broad.mit.edu	37	chrX	62570369	62570369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaatctgccagtcgtgaatcGatacgaggagttggcactct	10	10	12	9	3	2	1	0	1	2	0	4	5	2	2	1	2	2	2	1	2	3	2			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:62570369G>C	ENST00000374884.2	-	1	854	c.276C>G	c.(274-276)atC>atG	p.I92M	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000335144.3_Missense_Mutation_p.I110M			Q56A73	SPIN4_HUMAN	spindlin family, member 4	110					gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						GTCGTGAATCGATACGAGGAG	0.488													3	36					0	0	0	0	C	62570369	G	C	62570369	3	2	34	1	0	0	0	0	1	0	0	0	15146	1048	37	3	423	3	SPIN4	23	62570369	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	15262660	62570369	92700191	338	6798											
BRWD3	254065	broad.mit.edu	37	chrX	79975057	79975057	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcattaattagtctcaggtCttgttctctctgcagctccc	6	17	6	12	0	5	0	2	0	4	0	8	0	6	0	1	1	2	3	1	1	2	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:79975057C>G	ENST00000373275.4	-	18	2191	c.1975G>C	c.(1975-1977)Gac>Cac	p.D659H	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	659										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGTCTCAGGTCTTGTTCTCTC	0.398													34	22					0	0	0	0	G	79975057	C	G	79975057	3	3	34	1	0	0	0	0	1	0	0	0	1534	913	32	2	3529	2	BRWD3	23	79975057	Missense_Mutation	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	17404688	79975057	75295503	339	6799											
ARMCX6	54470	broad.mit.edu	37	chrX	100871295	100871295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtatttttatgttcataggGgaatggccgctgttttattg	8	18	11	4	1	1	0	1	0	0	0	1	1	1	1	1	3	0	4	1	3	5	9			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:100871295G>C	ENST00000539247.1	-	4	748	c.316C>G	c.(316-318)Ccc>Gcc	p.P106A	ARMCX6_ENST00000361910.4_Missense_Mutation_p.P106A|ARMCX6_ENST00000538627.1_Missense_Mutation_p.P106A|ARMCX6_ENST00000497931.1_Intron	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	106						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						TGTTCATAGGGGAATGGCCGC	0.502													7	118					0	0	0	0	C	100871295	G	C	100871295	3	2	34	1	0	0	0	0	1	0	0	0	967	1232	43	4	590	4	ARMCX6	23	100871295	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	20896238	100871295	54399265	340	6800											
RGAG1	57529	broad.mit.edu	37	chrX	109694273	109694273	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaatgtccccagggatgaTgacaattcctgattttggaa	11	12	11	7	0	0	3	0	3	0	0	2	5	2	5	3	3	0	1	3	3	3	4			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:109694273T>C	ENST00000465301.2	+	3	674	c.428T>C	c.(427-429)aTg>aCg	p.M143T	RGAG1_ENST00000540313.1_Missense_Mutation_p.M143T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	143										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCAGGGATGATGACAATTCCT	0.502													60	41					0	0	0	0	C	109694273	T	C	109694273	3	2	34	1	0	0	0	0	1	0	0	0	13356	1464	51	5	430	5	RGAG1	23	109694273	Missense_Mutation	SNP	T	TCGA-BA-A6DJ-01A-11D-A30E-08	8822978	109694273	45576287	341	6801											
GLUD2	2747	broad.mit.edu	37	chrX	120182405	120182405	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcaatgaagcttcttaCatgagcattttaggaatgac	13	14	7	7	0	3	3	2	3	1	0	3	4	3	4	0	1	3	2	0	1	5	5			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:120182405C>T	ENST00000328078.1	+	1	944	c.867C>T	c.(865-867)taC>taT	p.Y289Y		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	289					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AAGCTTCTTACATGAGCATTT	0.433													44	29					0	0	0	0	T	120182405	C	T	120182405	2	4	34	1	0	0	0	0	0	0	0	1	6528	489	17	4		4	GLUD2	23	120182405	Silent	SNP	C	TCGA-BA-A6DJ-01A-11D-A30E-08	10488132	120182405	35088155	342	6802											
SAGE1	55511	broad.mit.edu	37	chrX	134994509	134994509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaattttcattttgcttgaaGaggtacaaggatctatgaaa	14	14	9	4	0	2	3	1	2	1	1	2	5	2	4	0	2	2	2	0	2	6	7			TCGA-BA-A6DJ-01A-11D-A30E-08	TCGA-BA-A6DJ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e33eddc-c0eb-4f34-a43a-37e8248206aa	00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27	g.chrX:134994509G>C	ENST00000535938.1	+	19	2718	c.2551G>C	c.(2551-2553)Gag>Cag	p.E851Q	SAGE1_ENST00000324447.3_Missense_Mutation_p.E851Q|SAGE1_ENST00000537770.1_Missense_Mutation_p.E475Q|SAGE1_ENST00000370709.3_Missense_Mutation_p.E851Q	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	851										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TTTGCTTGAAGAGGTACAAGG	0.308													58	45					0	0	0	0	C	134994509	G	C	134994509	3	2	34	1	0	0	0	0	1	0	0	0	13894	943	33	2	2621	2	SAGE1	23	134994509	Missense_Mutation	SNP	G	TCGA-BA-A6DJ-01A-11D-A30E-08	14812104	134994509	20276051	343	6803											
NOC2L	26155	broad.mit.edu	37	chr1	886508	886508	+	Splice_Site	DEL	T	T	-																															ccaccacagcctcactcaccTccaggatgaaaggcagcacc																										TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:886508delT	ENST00000327044.6	-	12	1491	c.1443_splice	c.e12+1	p.E481_splice		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	481						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCACTCACCTCCAGGATGAA	0.657													2	4	---	---	---	---					-	886508	T	-	886508	8	5	35	1	0	1	0	1	0	0	1	0	10583	1565	54	0	839	0	NOC2L	1	886508	Splice_Site	DEL	T	TCGA-BA-A6DL-01A-21D-A30E-08		886508	248364113	1	6804											
PRDM2	7799	broad.mit.edu	37	chr1	14075943	14075943	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgattgaggaagagcgagccAgcgcccggagcaagcggagc	11	2	17	11	5	0	2	0	1	0	1	0	7	0	5	2	3	6	1	2	3	2	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:14075943A>G	ENST00000235372.7	+	6	1328	c.472A>G	c.(472-474)Agc>Ggc	p.S158G	PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000413440.1_5'UTR|PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000376048.5_Missense_Mutation_p.S158G|PRDM2_ENST00000311066.5_Missense_Mutation_p.S158G|PRDM2_ENST00000505823.1_5'UTR	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	158						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGAGCGAGCCAGCGCCCGGAG	0.716													4	24					0	0	0	0	G	14075943	A	G	14075943	3	3	35	1	0	0	0	0	1	0	0	0	12538	188	7	5	490	5	PRDM2	1	14075943	Missense_Mutation	SNP	A	TCGA-BA-A6DL-01A-21D-A30E-08	13189435	14075943	235174678	2	6805											
AKR7L	246181	broad.mit.edu	37	chr1	19596945	19596946	+	RNA	INS	-	-	TGG																															ctgcagccccggccctcaccINStggtacacagtgggcaggat																										TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:19596945_19596946insTGG	ENST00000420396.2	-	0	505_506				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CGGCCCTCACCTGGTACACAGT	0.619													17	78	---	---	---	---					TGG	19596946	-	TGG	19596945	6	5	35	0	1	1	1	0	0	0	0	0	477	695	24	0		0	AKR7L	1	19596945	RNA	INS	-	TCGA-BA-A6DL-01A-21D-A30E-08	5521002	19596945	229653676	3	6806											
LRRC40	55631	broad.mit.edu	37	chr1	70639354	70639354	+	Frame_Shift_Del	DEL	A	A	-																															aaggatttccttctaatgccAaaaatttcaaatgaaggttc																										TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:70639354delA	ENST00000370952.3	-	8	1095	c.1016delT	c.(1015-1017)tgfs	p.L339fs		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	339										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TTCTAATGCCAAAAATTTCAA	0.294													2	4	---	---	---	---					-	70639354	A	-	70639354	7	5	35	1	0	1	0	1	0	0	0	0	9062	131	5	0	824	0	LRRC40	1	70639354	Frame_Shift_Del	DEL	A	TCGA-BA-A6DL-01A-21D-A30E-08	51042409	70639354	178611267	4	6807											
MSH4	4438	broad.mit.edu	37	chr1	76355039	76355039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaattcatcaacatttatGaaagaaatgaaagaggtacc	20	9	6	6	0	2	4	2	2	0	2	2	4	2	4	1	1	2	1	1	1	7	4			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:76355039G>A	ENST00000263187.3	+	16	2315	c.2211G>A	c.(2209-2211)atG>atA	p.M737I		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	737					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CAACATTTATGAAAGAAATGA	0.269								Mismatch excision repair (MMR)					8	46					0	0	0	0	A	76355039	G	A	76355039	3	1	35	1	0	0	0	0	1	0	0	0	9942	1290	45	2	2273	2	MSH4	1	76355039	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	5715685	76355039	172895582	5	6808											
VANGL1	81839	broad.mit.edu	37	chr1	116206355	116206355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catatcccaagaggacattgCcaggatcagcaaggacatgg	14	6	11	10	0	1	1	1	0	0	1	2	4	2	4	2	4	2	1	2	4	3	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:116206355C>T	ENST00000355485.2	+	4	549	c.278C>T	c.(277-279)gCc>gTc	p.A93V	VANGL1_ENST00000369510.3_Missense_Mutation_p.A91V|VANGL1_ENST00000369509.1_Missense_Mutation_p.A93V|VANGL1_ENST00000310260.3_Missense_Mutation_p.A93V	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	93					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GAGGACATTGCCAGGATCAGC	0.567													4	112					0	0	0	0	T	116206355	C	T	116206355	3	4	35	1	0	0	0	0	1	0	0	0	17215	739	26	4	288	4	VANGL1	1	116206355	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	39851316	116206355	133044266	6	6809											
SLC22A15	55356	broad.mit.edu	37	chr1	116577905	116577905	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtctggcctcatagagAttccatcttaccctctctgt	6	14	6	15	0	4	1	1	0	3	1	6	2	5	1	4	1	1	0	4	1	2	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:116577905A>T	ENST00000369503.4	+	7	1172	c.1042A>T	c.(1042-1044)Att>Ttt	p.I348F	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	348					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCTCATAGAGATTCCATCTTA	0.443													5	60					0	0	0	0	T	116577905	A	T	116577905	3	4	35	1	0	0	0	0	1	0	0	0	14534	333	12	5	1068	5	SLC22A15	1	116577905	Missense_Mutation	SNP	A	TCGA-BA-A6DL-01A-21D-A30E-08	371550	116577905	132672716	7	6810											
ATP6V1G3	127124	broad.mit.edu	37	chr1	198492565	198492565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggatttctggtttcatgtCacagaccatgctcaagagct	10	13	9	9	0	4	2	3	0	1	2	4	3	4	3	1	2	2	3	1	2	1	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:198492565C>T	ENST00000367381.1	-	5	436	c.331G>A	c.(331-333)Gac>Aac	p.D111N	ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.D105N|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.D111N|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.D105N			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	105					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						GGTTTCATGTCACAGACCATG	0.388													5	25					0	0	0	0	T	198492565	C	T	198492565	3	4	35	1	0	0	0	0	1	0	0	0	1192	826	29	2	47	2	ATP6V1G3	1	198492565	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	81914660	198492565	50758056	8	6811											
KIF21B	23046	broad.mit.edu	37	chr1	200943897	200943897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggcattgatgggactgtCgtggcccttgatctcaccga	7	11	13	10	2	1	2	1	2	1	0	3	5	1	3	2	3	0	1	2	3	0	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:200943897C>T	ENST00000332129.2	-	33	5036	c.4720G>A	c.(4720-4722)Gac>Aac	p.D1574N	KIF21B_ENST00000461742.2_Missense_Mutation_p.D1587N|KIF21B_ENST00000360529.5_Missense_Mutation_p.D1574N|KIF21B_ENST00000422435.2_Missense_Mutation_p.D1587N	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1587					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATGGGACTGTCGTGGCCCTTG	0.597													40	107					0	0	0	0	T	200943897	C	T	200943897	3	4	35	1	0	0	0	0	1	0	0	0	8340	884	31	1	162	1	KIF21B	1	200943897	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	2451332	200943897	48306724	9	6812											
SOX13	9580	broad.mit.edu	37	chr1	204086308	204086308	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagatcaacctccttcagcAgcagatccaggtaaccggag	13	7	9	12	1	2	2	2	0	0	2	4	3	4	3	4	2	4	3	4	2	3	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:204086308A>T	ENST00000367204.1	+	6	759	c.650A>T	c.(649-651)cAg>cTg	p.Q217L	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	217	Gln-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCCTTCAGCAGCAGATCCAG	0.592													18	39					0	0	0	0	T	204086308	A	T	204086308	3	4	35	1	0	0	0	0	1	0	0	0	15032	188	7	5	668	5	SOX13	1	204086308	Missense_Mutation	SNP	A	TCGA-BA-A6DL-01A-21D-A30E-08	3142411	204086308	45164313	10	6813											
TRIM11	81559	broad.mit.edu	37	chr1	228582787	228582787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacctccacctcccagtaGtggcggcctgaggtgaagcg	8	6	12	15	2	0	2	0	2	0	0	2	2	2	2	6	3	2	1	6	3	3	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:228582787G>A	ENST00000493030.2	-	5	4360	c.651C>T	c.(649-651)caC>caT	p.H217H	RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Silent_p.H342H			Q96F44	TRI11_HUMAN	tripartite motif containing 11	342					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CCTCCCAGTAGTGGCGGCCTG	0.706													29	47					0	0	0	0	A	228582787	G	A	228582787	2	1	35	1	0	0	0	0	0	0	0	1	16582	1020	36	4		4	TRIM11	1	228582787	Silent	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	24496479	228582787	20667834	11	6814											
ERO1LB	56605	broad.mit.edu	37	chr1	236389816	236389816	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgggcttaccccaggtttCtaaagagaaagagaaataca	16	8	9	8	0	1	2	0	0	1	2	1	4	1	2	2	2	2	2	2	2	6	4			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:236389816C>G	ENST00000354619.5	-	12	1007		c.e12-1			NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)						electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCCCAGGTTTCTAAAGAGAAA	0.358													9	57					0	0	0	0	G	236389816	C	G	236389816	5	3	35	1	0	0	0	0	0	0	1	0	5278	927	32	2	618	2	ERO1LB	1	236389816	Splice_Site	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	7807029	236389816	12860805	12	6815											
FAM179A	165186	broad.mit.edu	37	chr2	29245049	29245049	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattacctgcggtgctcacGttggggtctcctgaatggga	6	12	13	10	2	3	1	2	1	1	0	4	2	3	2	2	4	3	2	2	4	2	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:29245049G>A	ENST00000379558.4	+	11	1737	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	FAM179A_ENST00000403861.2_Silent_p.T407T|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	462							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGGTGCTCACGTTGGGGTCTC	0.572													70	119					0	0	0	0	A	29245049	G	A	29245049	2	1	35	1	0	0	0	0	0	0	0	1	5546	1132	40	1		1	FAM179A	2	29245049	Silent	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08		29245049	213954324	13	6816											
PROM2	150696	broad.mit.edu	37	chr2	95947717	95947717	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccgtccatgaacctgtcGcaacttcttggcctgaggaa	8	9	9	15	2	1	2	0	2	1	0	3	3	2	3	5	2	2	1	5	2	3	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:95947717G>A	ENST00000317620.9	+	13	1729	c.1596G>A	c.(1594-1596)tcG>tcA	p.S532S	PROM2_ENST00000542147.1_Silent_p.S532S|PROM2_ENST00000317668.4_Silent_p.S532S|PROM2_ENST00000403131.2_Silent_p.S532S	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	532						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TGAACCTGTCGCAACTTCTTG	0.627													4	138					0	0	0	0	A	95947717	G	A	95947717	2	1	35	1	0	0	0	0	0	0	0	1	12636	1074	38	1		1	PROM2	2	95947717	Silent	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	66702668	95947717	147251656	14	6817											
GPAT2	150763	broad.mit.edu	37	chr2	96688757	96688757	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaactggaacagctgctCtgtgtagcccaactctgcag	10	8	11	12	0	2	0	0	0	2	0	2	2	2	2	1	2	7	4	1	2	4	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:96688757C>A	ENST00000434632.1	-	21	2623	c.2164G>T	c.(2164-2166)Gag>Tag	p.E722*	GPAT2_ENST00000453542.1_Nonsense_Mutation_p.E651*|GPAT2_ENST00000359548.4_Nonsense_Mutation_p.E722*|GPAT2_ENST00000377137.3_Missense_Mutation_p.Q637H			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	722					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						AACAGCTGCTCTGTGTAGCCC	0.597													17	88					5.3912e-06	5.76301e-06	1	0	A	96688757	C	A	96688757	4	1	35	1	0	0	0	0	0	1	0	0	6638	922	32	2	235	2	GPAT2	2	96688757	Nonsense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	741040	96688757	146510616	15	6818											
CNTNAP5	129684	broad.mit.edu	37	chr2	125547535	125547535	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcgctccttacacttgAatggacagaaaatggacctg	12	10	9	10	1	0	2	0	1	0	1	2	4	1	4	2	2	1	2	2	2	4	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:125547535A>T	ENST00000431078.1	+	18	3170	c.2806A>T	c.(2806-2808)Aat>Tat	p.N936Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	936	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTACACTTGAATGGACAGAA	0.502													5	89					0	0	0	0	T	125547535	A	T	125547535	3	4	35	1	0	0	0	0	1	0	0	0	3680	246	9	5	2876	5	CNTNAP5	2	125547535	Missense_Mutation	SNP	A	TCGA-BA-A6DL-01A-21D-A30E-08	28858778	125547535	117651838	16	6819											
LRP2	4036	broad.mit.edu	37	chr2	170099557	170099557	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatccccactggcacacttGaattgagaagcagtacagtt	12	11	8	10	0	0	2	0	2	0	1	1	3	1	2	2	1	2	4	2	1	4	5			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:170099557G>C	ENST00000263816.3	-	24	3861	c.3576C>G	c.(3574-3576)ttC>ttG	p.F1192L	LRP2_ENST00000443831.1_Missense_Mutation_p.F1055L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1192	LDL-receptor class A 12.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGCACACTTGAATTGAGAAG	0.378													10	109					0	0	0	0	C	170099557	G	C	170099557	3	2	35	1	0	0	0	0	1	0	0	0	9020	1281	45	2	10615	2	LRP2	2	170099557	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	44552022	170099557	73099816	17	6820											
CHL1	10752	broad.mit.edu	37	chr3	407773	407773	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaagatggagaagcctttGaaattaatggcacagaagat	17	9	11	4	0	0	5	0	1	0	4	0	6	0	5	1	2	1	2	1	2	6	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:407773G>C	ENST00000256509.2	+	15	2368	c.1726G>C	c.(1726-1728)Gaa>Caa	p.E576Q	CHL1_ENST00000397491.2_Missense_Mutation_p.E560Q|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	560	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGAAGCCTTTGAAATTAATGG	0.353													9	66					0	0	0	0	C	407773	G	C	407773	3	2	35	1	0	0	0	0	1	0	0	0	3378	1291	45	2	1776	2	CHL1	3	407773	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08		407773	197614657	18	6821											
CCR2	729230	broad.mit.edu	37	chr3	46399758	46399758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagtgagagtcatcttcaCcatcatgattgtttactttc	9	15	8	9	0	4	2	3	2	1	1	5	3	4	2	1	1	1	2	1	1	1	5			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:46399758C>T	ENST00000292301.4	+	2	1225	c.740C>T	c.(739-741)aCc>aTc	p.T247I	CCR2_ENST00000400888.2_Missense_Mutation_p.T247I|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_Missense_Mutation_p.T247I	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	247					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTCATCTTCACCATCATGATT	0.473													64	143					0	0	0	0	T	46399758	C	T	46399758	3	4	35	1	0	0	0	0	1	0	0	0	2970	507	18	4	742	4	CCR2	3	46399758	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	45991985	46399758	151622672	19	6822											
NBEAL2	23218	broad.mit.edu	37	chr3	47041666	47041666	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcacgccctttgacctgggCctggaacggtctagtgtagg	6	10	14	11	2	1	1	0	1	1	0	1	2	1	2	3	4	2	2	3	4	3	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:47041666C>A	ENST00000383740.2	+	0	4256				NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000450053.3_Silent_p.G1359G			Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2								binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTGACCTGGGCCTGGAACGGT	0.617													55	111					1.74971e-23	2.05459e-23	1	0	A	47041666	C	A	47041666	1	1	35	1	0	0	0	0	0	0	0	0	10259	726	26	4		4	NBEAL2	3	47041666	Translation_Start_Site	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	641908	47041666	150980764	20	6823											
IQCF1	132141	broad.mit.edu	37	chr3	51929136	51929136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcctgggactgcagtgTgactgctgcccactccttcc	4	9	13	15	1	0	1	0	1	0	0	2	2	2	2	4	2	3	2	4	2	0	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:51929136T>C	ENST00000310914.5	-	4	450	c.388A>G	c.(388-390)Aca>Gca	p.T130A		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	130	IQ 2.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACTGCAGTGTGACTGCTGCC	0.602													46	67					0	0	0	0	C	51929136	T	C	51929136	3	2	35	1	0	0	0	0	1	0	0	0	7860	1696	59	5	233	5	IQCF1	3	51929136	Missense_Mutation	SNP	T	TCGA-BA-A6DL-01A-21D-A30E-08	4887470	51929136	146093294	21	6824											
ROBO1	6091	broad.mit.edu	37	chr3	78795900	78795900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaaatactcacagttattCtttcatctttatcatccagt	12	18	2	9	0	5	0	3	0	2	0	6	0	6	0	1	0	1	1	1	0	5	7			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:78795900C>T	ENST00000436010.2	-	3	1530	c.533G>A	c.(532-534)aGa>aAa	p.R178K	ROBO1_ENST00000464233.1_Missense_Mutation_p.R217K|ROBO1_ENST00000495273.1_Missense_Mutation_p.R178K|ROBO1_ENST00000467549.1_Missense_Mutation_p.R178K			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	217	Ig-like C2-type 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CACAGTTATTCTTTCATCTTT	0.398													6	78					0	0	0	0	T	78795900	C	T	78795900	3	4	35	1	0	0	0	0	1	0	0	0	13598	913	32	2	4426	2	ROBO1	3	78795900	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	26866764	78795900	119226530	22	6825											
EPHB1	2047	broad.mit.edu	37	chr3	134880877	134880877	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggaacacaatgagttcaaCtcctccatggccaggagtca	13	8	9	11	0	2	1	2	1	0	0	4	3	4	3	3	3	2	1	3	3	4	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:134880877C>T	ENST00000398015.3	+	7	1810	c.1440C>T	c.(1438-1440)aaC>aaT	p.N480N	EPHB1_ENST00000493838.1_Silent_p.N41N	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	480	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATGAGTTCAACTCCTCCATGG	0.552													24	78					0	0	0	0	T	134880877	C	T	134880877	2	4	35	1	0	0	0	0	0	0	0	1	5212	564	20	4		4	EPHB1	3	134880877	Silent	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	56084977	134880877	63141553	23	6826											
CP	1356	broad.mit.edu	37	chr3	148916152	148916152	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttttccccagttggacttAcctgtctcccatttgcatgt	5	18	6	12	0	1	0	0	0	1	0	3	1	2	1	4	1	2	2	4	1	1	6			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:148916152A>C	ENST00000264613.6	-	9	1976		c.e9+1		CP_ENST00000462336.1_Splice_Site	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)						cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGTTGGACTTACCTGTCTCCC	0.333													7	56					0	0	0	0	C	148916152	A	C	148916152	5	2	35	1	0	0	0	0	0	0	1	0	3817	405	14	5	1526	5	CP	3	148916152	Splice_Site	SNP	A	TCGA-BA-A6DL-01A-21D-A30E-08	14035275	148916152	49106278	24	6827											
ARL14	80117	broad.mit.edu	37	chr3	160395525	160395525	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaagacatgcctggagctCtgactgctgaggacatcacc	12	7	10	12	0	2	3	1	2	1	1	2	5	2	5	2	2	4	2	2	2	2	0			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:160395525C>G	ENST00000320767.2	+	1	578	c.391C>G	c.(391-393)Ctg>Gtg	p.L131V		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	131					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			GCCTGGAGCTCTGACTGCTGA	0.473													20	86					0	0	0	0	G	160395525	C	G	160395525	3	3	35	1	0	0	0	0	1	0	0	0	932	912	32	2	393	2	ARL14	3	160395525	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	11479373	160395525	37626905	25	6828											
CLCN2	1181	broad.mit.edu	37	chr3	184079216	184079216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcacttaccagggtctgctCgtactgcagcgcccgtggct	5	11	11	14	3	2	0	1	0	1	0	3	0	2	0	2	2	5	4	2	2	2	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:184079216C>T	ENST00000265593.4	-	1	223	c.52G>A	c.(52-54)Gag>Aag	p.E18K	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.E18K|CLCN2_ENST00000434054.2_Missense_Mutation_p.E18K|CLCN2_ENST00000457512.1_Missense_Mutation_p.E18K|CLCN2_ENST00000423355.2_5'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	18						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGGGTCTGCTCGTACTGCAGC	0.706													17	145					0	0	0	0	T	184079216	C	T	184079216	3	4	35	1	0	0	0	0	1	0	0	0	3493	893	31	1	2740	1	CLCN2	3	184079216	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	23683691	184079216	13943214	26	6829											
SLC30A9	10463	broad.mit.edu	37	chr4	42025371	42025371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccagagagaaaaaattgCgtaaggaagcagaaatagaa	20	6	11	4	1	0	4	0	0	0	4	0	6	0	5	1	1	3	2	1	1	8	4			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:42025371C>T	ENST00000264451.6	+	6	760	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	194					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAAAAAATTGCGTAAGGAAGC	0.338													3	46					0	0	0	0	T	42025371	C	T	42025371	3	4	35	1	0	0	0	0	1	0	0	0	14650	768	27	1	602	1	SLC30A9	4	42025371	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08		42025371	149128905	27	6830											
KIAA1211	57482	broad.mit.edu	37	chr4	57182643	57182643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtagagctgctgtctcgccGagcggggaggccggacccag	6	5	18	12	4	1	1	0	0	1	1	2	4	1	3	3	5	3	3	3	5	1	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:57182643G>A	ENST00000504228.1	+	6	3080	c.2975G>A	c.(2974-2976)cGa>cAa	p.R992Q	KIAA1211_ENST00000541073.1_Missense_Mutation_p.R985Q|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R992Q			Q6ZU35	K1211_HUMAN	KIAA1211	992	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTGTCTCGCCGAGCGGGGAGG	0.657													7	45					0	0	0	0	A	57182643	G	A	57182643	3	1	35	1	0	0	0	0	1	0	0	0	8266	1058	37	1	2993	1	KIAA1211	4	57182643	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	15157272	57182643	133971633	28	6831											
HELQ	113510	broad.mit.edu	37	chr4	84370110	84370110	+	Missense_Mutation	SNP	C	C	A																															aatgttaaacaagtatgttgCcattctgtggaattaaaaaa																										TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:84370110C>A	ENST00000295488.3	-	3	1179	c.1017G>T	c.(1015-1017)tgG>tgT	p.W339C	HELQ_ENST00000510985.1_Missense_Mutation_p.W339C	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	339							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AAGTATGTTGCCATTCTGTGG	0.323								Other identified genes with known or suspected DNA repair function					8	17					0.000157383	0.000164827	1	0	A	84370110	C	A	84370110	3	1	35	1	0	0	0	0	1	0	0	0	7097	740	26	4	2352	4	HELQ	4	84370110	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	27187467	84370110	106784166	29	6832	62	2									
HELQ	113510	broad.mit.edu	37	chr4	84370111	84370111	+	Nonsense_Mutation	SNP	C	C	T																															atgttaaacaagtatgttgcCattctgtggaattaaaaaaa																										TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:84370111C>T	ENST00000295488.3	-	3	1178	c.1016G>A	c.(1015-1017)tGg>tAg	p.W339*	HELQ_ENST00000510985.1_Nonsense_Mutation_p.W339*	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	339							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGTATGTTGCCATTCTGTGGA	0.328								Other identified genes with known or suspected DNA repair function					7	17					0	0	0	0	T	84370111	C	T	84370111	4	4	35	1	0	0	0	0	0	1	0	0	7097	595	21	4	2353	4	HELQ	4	84370111	Nonsense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	1	84370111	106784165	30	6833	62	2									
TET2	54790	broad.mit.edu	37	chr4	106157821	106157821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagaaaccaagatatgtctGgtcaacaagctgcgcaactt	15	9	8	9	1	2	2	1	0	1	2	2	2	2	2	1	1	5	2	1	1	7	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:106157821G>T	ENST00000513237.1	+	3	3582	c.2785G>T	c.(2785-2787)Ggt>Tgt	p.G929C	TET2_ENST00000413648.2_Missense_Mutation_p.G908C|TET2_ENST00000545826.1_Missense_Mutation_p.G908C|TET2_ENST00000394764.1_Missense_Mutation_p.G908C|TET2_ENST00000540549.1_Missense_Mutation_p.G908C|TET2_ENST00000305737.2_Missense_Mutation_p.G908C|TET2_ENST00000380013.4_Missense_Mutation_p.G908C			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	908	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.G908fs*14(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGATATGTCTGGTCAACAAGC	0.438			"Mis N, F"		MDS								20	26					4.35082e-09	4.81698e-09	1	0	T	106157821	G	T	106157821	3	4	35	1	0	0	0	0	1	0	0	0	15864	1348	47	4	2724	4	TET2	4	106157821	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	21787710	106157821	84996455	31	6834											
WDR17	116966	broad.mit.edu	37	chr4	177084311	177084311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttattgagcaagcttgctAtggcatacctgattcgcgga	9	13	10	9	2	1	2	0	2	1	0	2	3	1	3	1	2	4	4	1	2	4	6			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:177084311A>G	ENST00000393643.2	+	22	3109	c.2857A>G	c.(2857-2859)Atg>Gtg	p.M953V	WDR17_ENST00000508596.1_Missense_Mutation_p.M953V|WDR17_ENST00000507824.2_Missense_Mutation_p.M960V|WDR17_ENST00000280190.4_Missense_Mutation_p.M977V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	977										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAAGCTTGCTATGGCATACCT	0.443													39	57					0	0	0	0	G	177084311	A	G	177084311	3	3	35	1	0	0	0	0	1	0	0	0	17373	449	16	5	3015	5	WDR17	4	177084311	Missense_Mutation	SNP	A	TCGA-BA-A6DL-01A-21D-A30E-08	70926490	177084311	14069965	32	6835											
ZMAT2	153527	broad.mit.edu	37	chr5	140084081	140084081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgaagaaacgttttgaGgtcaacaagaagaagatgga	17	7	13	4	1	1	6	1	2	0	4	1	7	1	7	0	3	2	1	0	3	6	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:140084081G>A	ENST00000274712.3	+	5	508	c.381G>A	c.(379-381)gaG>gaA	p.E127E		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	127						nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGTTTTGAGGTCAACAAGA	0.473													4	110					0	0	0	0	A	140084081	G	A	140084081	2	1	35	1	0	0	0	0	0	0	0	1	17787	991	35	4		4	ZMAT2	5	140084081	Silent	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08		140084081	40831179	33	6836											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	5	7	16	13	6	0	0	0	0	0	0	2	3	1	0	2	3	2	3	2	3	1	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													4	233					5.18039e-06	5.57612e-06	1	0	T	140553994	G	T	140553994	2	4	35	1	0	0	0	0	0	0	0	1	11618	1132	40	3		3	PCDHB7	5	140553994	Silent	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	469913	140553994	40361266	34	6837											
CSF1R	1436	broad.mit.edu	37	chr5	149433887	149433887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcctcaccccactcacccGctctctcctgtcctcttggg	5	10	6	20	1	4	0	2	0	2	0	7	0	6	0	6	1	1	1	6	1	1	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:149433887G>A	ENST00000286301.3	-	21	3052	c.2761C>T	c.(2761-2763)Cgg>Tgg	p.R921W		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	921			R -> Q (in dbSNP:rs56059682).		cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCACTCACCCGCTCTCTCCTG	0.632													10	69					0	0	0	0	A	149433887	G	A	149433887	3	1	35	1	0	0	0	0	1	0	0	0	3964	1086	38	1	165	1	CSF1R	5	149433887	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	8879893	149433887	31481373	35	6838											
SLIT3	6586	broad.mit.edu	37	chr5	168179996	168179996	+	Frame_Shift_Del	DEL	G	G	-																															caagcgtggtgaaggccccaGgggtgatggtggtgatccga																										TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:168179996delG	ENST00000519560.1	-	18	2356	c.1937delC	c.(1936-1938)ctfs	p.P646fs	SLIT3_ENST00000404867.3_Frame_Shift_Del_p.P646fs|SLIT3_ENST00000332966.8_Frame_Shift_Del_p.P646fs	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	646					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAGGCCCCAGGGGTGATGGT	0.577													16	48	---	---	---	---					-	168179996	G	-	168179996	7	5	35	1	0	1	0	1	0	0	0	0	14829	1000	35	0	2710	0	SLIT3	5	168179996	Frame_Shift_Del	DEL	G	TCGA-BA-A6DL-01A-21D-A30E-08	18746109	168179996	12735264	36	6839											
NSD1	64324	broad.mit.edu	37	chr5	176638614	176638614	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtactgcagggagacCgagaacgtggaggttcattg	10	9	15	7	2	1	2	1	0	0	2	1	5	1	3	1	3	4	4	1	3	2	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:176638614C>T	ENST00000439151.2	+	5	3259	c.3214C>T	c.(3214-3216)Cga>Tga	p.R1072*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.R803*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R803*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R969*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1072					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCAGGGAGACCGAGAACGTGG	0.468			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			28	141					0	0	0	0	T	176638614	C	T	176638614	4	4	35	1	0	0	0	0	0	1	0	0	10740	644	23	1	3228	1	NSD1	5	176638614	Nonsense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	8458618	176638614	4276646	37	6840											
NSD1	64324	broad.mit.edu	37	chr5	176638999	176639006	+	Frame_Shift_Del	DEL	GGGATGAG	GGGATGAG	-																															tgaccctgtgcaggaggggcGggatgagtttccagagcata																										TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:176638999_176639006delGGGATGAG	ENST00000439151.2	+	5	3644_3651	c.3599_3606delGGGATGAG	c.(3598-3606)cfs	p.RDE1200fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.RDE1097fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.RDE931fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.RDE931fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1200					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGGAGGGGCGGGATGAGTTTCCAGAGC	0.476			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			16	74	---	---	---	---					-	176639006	GGGATGAG	-	176638999	7	5	35	1	0	1	0	1	0	0	0	0	10740	1116	39	0	3613	0	NSD1	5	176638999	Frame_Shift_Del	DEL	GGGATGAG	TCGA-BA-A6DL-01A-21D-A30E-08	385	176638999	4276261	38	6841											
TRIM10	10107	broad.mit.edu	37	chr6	30122024	30122024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccgaagctcccccttccGctgcacatcctcgctcacca	7	7	6	21	3	1	0	1	0	0	0	5	1	4	0	6	0	3	4	6	0	1	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:30122024G>A	ENST00000449742.2	-	7	1243	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	390	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						TCCCCCTTCCGCTGCACATCC	0.677													10	52					0	0	0	0	A	30122024	G	A	30122024	3	1	35	1	0	0	0	0	1	0	0	0	16581	1086	38	1	369	1	TRIM10	6	30122024	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08		30122024	140993043	39	6842											
DNAH8	1769	broad.mit.edu	37	chr6	38838177	38838177	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttaaactatgccaccttagGttgatgaagatgaacccctg	12	12	8	9	0	0	4	0	3	0	1	0	4	0	4	4	1	3	1	4	1	6	5			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:38838177G>T	ENST00000359357.3	+	47	6432	c.6177_splice	c.e47-1	p.V2060_splice	DNAH8_ENST00000441566.1_Splice_Site_p.V2024_splice|DNAH8_ENST00000449981.2_Splice_Site_p.V2277_splice					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCCACCTTAGGTTGATGAAGA	0.403													7	94					1.12685e-05	1.19631e-05	1	0	T	38838177	G	T	38838177	5	4	35	1	0	0	0	0	0	0	1	0	4643	1275	44	4	6356	4	DNAH8	6	38838177	Splice_Site	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	8716153	38838177	132276890	40	6843											
KLHDC3	116138	broad.mit.edu	37	chr6	42986849	42986849	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatctcctgaggaaggcCtgggagatgaatttgacctt	9	11	12	9	0	1	4	0	3	1	1	3	6	2	5	4	3	0	0	4	3	2	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:42986849C>T	ENST00000326974.4	+	9	1144	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	KLHDC3_ENST00000244670.8_Silent_p.L183L|KLHDC3_ENST00000332245.8_Silent_p.L258L	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	317					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGAGGAAGGCCTGGGAGATGA	0.433													40	59					0	0	0	0	T	42986849	C	T	42986849	2	4	35	1	0	0	0	0	0	0	0	1	8409	680	24	4		4	KLHDC3	6	42986849	Silent	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	4148672	42986849	128128218	41	6844											
CUL7	9820	broad.mit.edu	37	chr6	43011260	43011260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggtgagtgagacggCgcacccgcgagaagaaagct	12	3	15	11	4	0	4	0	2	0	3	0	6	0	4	2	2	2	3	2	2	2	0			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:43011260C>T	ENST00000535468.1	-	17	3619	c.3533G>A	c.(3532-3534)cGc>cAc	p.R1178H	CUL7_ENST00000265348.3_Missense_Mutation_p.R1094H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1094					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.R1094L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGTGAGACGGCGCACCCGCGA	0.642													4	49					0	0	0	0	T	43011260	C	T	43011260	3	4	35	1	0	0	0	0	1	0	0	0	4092	768	27	1	1855	1	CUL7	6	43011260	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	24411	43011260	128103807	42	6845											
GSTA1	2938	broad.mit.edu	37	chr6	52659006	52659006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttcctcaggtggacataCgggcagaaggaggatcattt	10	12	12	7	1	2	1	2	0	0	1	3	4	3	4	1	5	1	1	1	5	2	4	rs1051733		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:52659006C>T	ENST00000334575.5	-	5	486	c.331G>A	c.(331-333)Gta>Ata	p.V111I	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	111	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GGTGGACATACGGGCAGAAGG	0.393													4	196					0	0	0	0	T	52659006	C	T	52659006	3	4	35	1	0	0	0	0	1	0	0	0	6880	536	19	1	349	1	GSTA1	6	52659006	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	9647746	52659006	118456061	43	6846											
PRDM13	59336	broad.mit.edu	37	chr6	100057104	100057104	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgtccagccaggggaggaGctgacagtgtggtattctaa	10	8	15	8	1	1	1	0	1	1	0	2	4	2	3	2	4	2	2	2	4	2	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:100057104G>A	ENST00000369214.1	+	3	609	c.348G>A	c.(346-348)gaG>gaA	p.E116E	PRDM13_ENST00000369215.4_Silent_p.E106E	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	106	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CAGGGGAGGAGCTGACAGTGT	0.522													15	39					0	0	0	0	A	100057104	G	A	100057104	2	1	35	1	0	0	0	0	0	0	0	1	12534	962	34	4		4	PRDM13	6	100057104	Silent	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	47398098	100057104	71057963	44	6847											
TMEM200A	114801	broad.mit.edu	37	chr6	130762378	130762378	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactgatgataagaccagcGgctctaagaaatgtgaaacc	16	7	9	9	1	1	5	0	3	1	2	1	5	1	5	2	1	3	1	2	1	5	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:130762378G>C	ENST00000392429.1	+	2	3189	c.811G>C	c.(811-813)Ggc>Cgc	p.G271R	TMEM200A_ENST00000296978.3_Missense_Mutation_p.G271R|TMEM200A_ENST00000545622.1_Missense_Mutation_p.G271R	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	271						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TAAGACCAGCGGCTCTAAGAA	0.453													24	85					0	0	0	0	C	130762378	G	C	130762378	3	2	35	1	0	0	0	0	1	0	0	0	16217	1116	39	3	813	3	TMEM200A	6	130762378	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	30705274	130762378	40352689	45	6848											
HBS1L	10767	broad.mit.edu	37	chr6	135306526	135306526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaaaggtttgtcaatagatCgctggggaggcttaaaggaa	14	10	13	4	1	1	1	1	0	0	1	2	3	1	3	0	5	0	3	0	5	7	4			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:135306526C>T	ENST00000367837.5	-	12	1651	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q	HBS1L_ENST00000445176.2_Missense_Mutation_p.R206Q|HBS1L_ENST00000367824.4_Missense_Mutation_p.R318Q|HBS1L_ENST00000367826.2_Missense_Mutation_p.R440Q|HBS1L_ENST00000415177.2_Missense_Mutation_p.R417Q|HBS1L_ENST00000527578.1_Missense_Mutation_p.R318Q	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	482					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GTCAATAGATCGCTGGGGAGG	0.353													4	185					0	0	0	0	T	135306526	C	T	135306526	3	4	35	1	0	0	0	0	1	0	0	0	7037	884	31	1	637	1	HBS1L	6	135306526	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	4544148	135306526	35808541	46	6849											
PPP1R14C	81706	broad.mit.edu	37	chr6	150464598	150464598	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggctggtgctggaggaatgGatcgtggagcagctgggtca	7	8	19	7	2	1	0	1	0	0	0	2	4	1	4	0	7	3	4	0	7	1	0			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:150464598G>A	ENST00000361131.4	+	1	387	c.270G>A	c.(268-270)tgG>tgA	p.W90*		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	90					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TGGAGGAATGGATCGTGGAGC	0.622													5	34					0	0	0	0	A	150464598	G	A	150464598	4	1	35	1	0	0	0	0	0	1	0	0	12437	1183	41	2	272	2	PPP1R14C	6	150464598	Nonsense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	15158072	150464598	20650469	47	6850											
TULP4	56995	broad.mit.edu	37	chr6	158923368	158923368	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgagaggatcaccaccttCgacagcagtggcaacgtgga	12	7	12	10	2	1	1	1	1	0	1	2	5	1	3	2	3	2	2	2	3	2	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:158923368C>T	ENST00000367097.3	+	13	4030	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	891					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCACCACCTTCGACAGCAGTG	0.642													19	119					0	0	0	0	T	158923368	C	T	158923368	2	4	35	1	0	0	0	0	0	0	0	1	16872	883	31	1		1	TULP4	6	158923368	Silent	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	8458770	158923368	12191699	48	6851											
GLI3	2737	broad.mit.edu	37	chr7	42005626	42005626	+	Silent	SNP	G	G	A																															ggcacacgaggcagggccagGccctcggagcctgtccgcac																										TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr7:42005626G>A	ENST00000395925.3	-	15	3129	c.3045C>T	c.(3043-3045)ggC>ggT	p.G1015G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1015					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCAGGGCCAGGCCCTCGGAGC	0.731									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				10	32					0	0	0	0	A	42005626	G	A	42005626	2	1	35	1	0	0	0	0	0	0	0	1	6490	1190	42	4		4	GLI3	7	42005626	Silent	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08		42005626	117133037	49	6852	63	2									
GLI3	2737	broad.mit.edu	37	chr7	42005627	42005627	+	Missense_Mutation	SNP	C	C	A																															gcacacgaggcagggccaggCcctcggagcctgtccgcacc																										TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr7:42005627C>A	ENST00000395925.3	-	15	3128	c.3044G>T	c.(3043-3045)gGc>gTc	p.G1015V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1015					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGGGCCAGGCCCTCGGAGCC	0.736									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				10	33					9.70103e-10	1.08177e-09	1	0	A	42005627	C	A	42005627	3	1	35	1	0	0	0	0	1	0	0	0	6490	739	26	4	1702	4	GLI3	7	42005627	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	1	42005627	117133036	50	6853	63	2									
SAMD9L	219285	broad.mit.edu	37	chr7	92764237	92764237	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaattggccaggatatcccTagagctagccccttctctta	9	11	9	12	0	1	1	0	0	1	1	3	3	2	3	4	3	2	1	4	3	5	6			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr7:92764237T>A	ENST00000318238.4	-	5	2264	c.1048A>T	c.(1048-1050)Agg>Tgg	p.R350W	SAMD9L_ENST00000411955.1_Missense_Mutation_p.R350W|SAMD9L_ENST00000437805.1_Missense_Mutation_p.R350W	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	350										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGGATATCCCTAGAGCTAGCC	0.348													55	101					0	0	0	0	A	92764237	T	A	92764237	3	1	35	1	0	0	0	0	1	0	0	0	13912	1521	53	5	3710	5	SAMD9L	7	92764237	Missense_Mutation	SNP	T	TCGA-BA-A6DL-01A-21D-A30E-08	50758610	92764237	66374426	51	6854											
LRRC4	64101	broad.mit.edu	37	chr7	127670544	127670544	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaactggttactgcacgaGcagacggaggggcagttctg	9	8	15	9	2	1	2	0	1	1	1	1	4	1	3	0	4	4	5	0	4	2	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr7:127670544G>C	ENST00000249363.3	-	2	407	c.150C>G	c.(148-150)tgC>tgG	p.C50W	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	50	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		TACTGCACGAGCAGACGGAGG	0.647													24	163					0	0	0	0	C	127670544	G	C	127670544	3	2	35	1	0	0	0	0	1	0	0	0	9061	963	34	4	1815	4	LRRC4	7	127670544	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	34906307	127670544	31468119	52	6855											
DLGAP2	9228	broad.mit.edu	37	chr8	1497631	1497631	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagccccttcggggacCtgtccctcaagacctccaag	8	7	10	16	1	1	2	1	0	0	2	4	3	3	3	6	2	2	1	6	2	2	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr8:1497631C>G	ENST00000421627.2	+	2	906	c.772C>G	c.(772-774)Ctg>Gtg	p.L258V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	337					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTTCGGGGACCTGTCCCTCAA	0.672													57	166					0	0	0	0	G	1497631	C	G	1497631	3	3	35	1	0	0	0	0	1	0	0	0	4597	680	24	4	774	4	DLGAP2	8	1497631	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08		1497631	144866391	53	6856											
CSMD1	64478	broad.mit.edu	37	chr8	3081280	3081280	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaggcgatgacaaagtcCgggttcacttttactctcca	11	11	8	11	2	3	1	2	1	1	0	5	2	4	1	2	2	1	1	2	2	3	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr8:3081280C>T	ENST00000602557.1	-	29	5013	c.4458G>A	c.(4456-4458)ccG>ccA	p.P1486P	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.P1486P|CSMD1_ENST00000539096.1_Silent_p.P1485P|CSMD1_ENST00000542608.1_Silent_p.P1485P|CSMD1_ENST00000537824.1_Silent_p.P1485P|CSMD1_ENST00000520002.1_Silent_p.P1486P|CSMD1_ENST00000400186.3_Silent_p.P1486P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1486	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGACAAAGTCCGGGTTCACTT	0.428													17	95					0	0	0	0	T	3081280	C	T	3081280	2	4	35	1	0	0	0	0	0	0	0	1	3976	639	23	1		1	CSMD1	8	3081280	Silent	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	1583649	3081280	143282742	54	6857											
MTMR7	9108	broad.mit.edu	37	chr8	17206461	17206461	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacacgcctcgagacttaCgtggttatctttataatagt	13	13	7	8	3	1	1	0	0	1	1	2	2	1	1	1	1	2	1	1	1	7	6			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr8:17206461C>T	ENST00000180173.5	-	5	632		c.e5+1		MTMR7_ENST00000521857.1_Splice_Site|MTMR7_ENST00000523571.1_Splice_Site	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7								protein tyrosine phosphatase activity	p.?(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCGAGACTTACGTGGTTATCT	0.443													23	87					0	0	0	0	T	17206461	C	T	17206461	5	4	35	1	0	0	0	0	0	0	1	0	10018	550	19	1	1424	1	MTMR7	8	17206461	Splice_Site	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	14125181	17206461	129157561	55	6858											
LY96	23643	broad.mit.edu	37	chr8	74922333	74922333	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgccgaggatctgatgaCgattactctttttgcagagc	9	14	10	8	2	2	3	0	2	2	1	2	6	2	4	1	1	4	1	1	1	1	4	rs148048520	byFrequency	TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr8:74922333C>T	ENST00000284818.2	+	3	391	c.300C>T	c.(298-300)gaC>gaT	p.D100D	LY96_ENST00000518893.1_Silent_p.D70D	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	100					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GATCTGATGACGATTACTCTT	0.313													17	64					0	0	0	0	T	74922333	C	T	74922333	2	4	35	1	0	0	0	0	0	0	0	1	9167	535	19	1		1	LY96	8	74922333	Silent	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	57715872	74922333	71441689	56	6859											
PKHD1L1	93035	broad.mit.edu	37	chr8	110520343	110520343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggaattattagagattcaAcctgtaagtaccttccagag	14	12	8	7	0	1	2	1	0	0	2	2	4	2	3	3	1	2	2	3	1	7	7			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr8:110520343A>G	ENST00000378402.5	+	70	11349	c.11245A>G	c.(11245-11247)Acc>Gcc	p.T3749A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3749					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAGAGATTCAACCTGTAAGTA	0.338										HNSCC(38;0.096)			34	75					0	0	0	0	G	110520343	A	G	110520343	3	3	35	1	0	0	0	0	1	0	0	0	12044	43	2	5	11523	5	PKHD1L1	8	110520343	Missense_Mutation	SNP	A	TCGA-BA-A6DL-01A-21D-A30E-08	35598010	110520343	35843679	57	6860											
TOPORS	10210	broad.mit.edu	37	chr9	32542374	32542374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcctcctgtaagatgattCgtacccatccctgtccttgt	6	14	6	15	1	0	2	0	1	0	1	5	2	4	2	6	0	1	2	6	0	2	4			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:32542374C>T	ENST00000360538.2	-	3	2265	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	TOPORS_ENST00000379858.1_Missense_Mutation_p.E652K	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	717	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAAGATGATTCGTACCCATCC	0.373													31	436					0	0	0	0	T	32542374	C	T	32542374	3	4	35	1	0	0	0	0	1	0	0	0	16465	893	31	1	992	1	TOPORS	9	32542374	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08		32542374	108671057	58	6861											
PRUNE2	158471	broad.mit.edu	37	chr9	79465540	79465540	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagttgaattcagttcttggTatgttcagcactggtaaaca	11	15	9	6	0	3	1	2	1	1	0	3	1	3	1	0	2	2	6	0	2	5	8			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:79465540T>C	ENST00000428286.1	-	0	306				PRUNE2_ENST00000376718.3_Missense_Mutation_p.I61M|PRUNE2_ENST00000376713.3_Missense_Mutation_p.I61M			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGTTCTTGGTATGTTCAGCA	0.388													24	149					0	0	0	0	C	79465540	T	C	79465540	1	2	35	1	0	0	0	0	0	0	0	0	12720	1628	57	5		5	PRUNE2	9	79465540	Translation_Start_Site	SNP	T	TCGA-BA-A6DL-01A-21D-A30E-08	46923166	79465540	61747891	59	6862											
DAPK1	1612	broad.mit.edu	37	chr9	90313650	90313650	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatgaatgttcctcgaccGgctggaggcgagtttggata	9	11	13	8	3	1	1	1	1	0	0	3	5	2	3	2	4	0	3	2	4	2	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:90313650G>T	ENST00000469640.2	+	23	3066	c.2691G>T	c.(2689-2691)ccG>ccT	p.P897P	DAPK1_ENST00000358077.5_Silent_p.P897P|DAPK1_ENST00000472284.1_Silent_p.P897P|DAPK1_ENST00000491893.1_Silent_p.P831P|DAPK1_ENST00000408954.3_Silent_p.P897P			P53355	DAPK1_HUMAN	death-associated protein kinase 1	897					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TTCCTCGACCGGCTGGAGGCG	0.562									Chronic Lymphocytic Leukemia, Familial Clustering of				5	73					0.0293803	0.0295711	1	0	T	90313650	G	T	90313650	2	4	35	1	0	0	0	0	0	0	0	1	4268	1103	39	3		3	DAPK1	9	90313650	Silent	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	10848110	90313650	50899781	60	6863											
PHF19	26147	broad.mit.edu	37	chr9	123632816	123632816	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctcctctcctggaacaccgGctgaaagagagggcctcgag	9	6	13	13	2	1	2	0	1	1	1	4	5	2	3	4	3	1	2	4	3	2	0			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:123632816G>T	ENST00000373896.3	-	4	521	c.268_splice	c.e4-1	p.A90_splice	PHF19_ENST00000312189.6_Splice_Site_p.A90_splice	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGAACACCGGCTGAAAGAGA	0.567													20	109					0.000958276	0.00098366	1	0	T	123632816	G	T	123632816	5	4	35	1	0	0	0	0	0	0	1	0	11901	1217	42	4	1680	4	PHF19	9	123632816	Splice_Site	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	33319166	123632816	17580615	61	6864											
C5	727	broad.mit.edu	37	chr9	123725172	123725172	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttgcaggtggagcttaccGaattcagttgcagaataaca	12	10	12	7	1	1	1	1	0	0	1	1	3	1	2	1	3	5	5	1	3	4	5			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:123725172G>A	ENST00000223642.1	-	35	4426	c.4398_splice	c.e35+1	p.S1466_splice		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1466					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GGAGCTTACCGAATTCAGTTG	0.358													4	190					0	0	0	0	A	123725172	G	A	123725172	5	1	35	1	0	0	0	0	0	0	1	0	2301	1072	37	1	661	1	C5	9	123725172	Splice_Site	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	92356	123725172	17488259	62	6865											
C9orf96	169436	broad.mit.edu	37	chr9	136268926	136268926	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatggcagaagccagctgcgGagtcttctggctgctgtccc	7	9	13	12	1	2	1	0	0	2	1	3	2	3	2	2	3	4	4	2	3	2	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:136268926G>C	ENST00000371957.3	+	15	1684	c.1577G>C	c.(1576-1578)gGa>gCa	p.G526A	C9orf96_ENST00000371955.1_Missense_Mutation_p.G59A	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	526							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCAGCTGCGGAGTCTTCTGG	0.657													19	51					0	0	0	0	C	136268926	G	C	136268926	3	2	35	1	0	0	0	0	1	0	0	0	2533	1174	41	2	1635	2	C9orf96	9	136268926	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	12543754	136268926	4944505	63	6866											
FAM21C	253725	broad.mit.edu	37	chr10	46250521	46250521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatgatggtgatgatgatGacgactttttctcggcaccc	9	13	11	8	2	1	6	0	6	1	0	2	7	1	6	1	2	0	1	1	2	0	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:46250521G>A	ENST00000336378.4	+	15	1496	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	FAM21C_ENST00000359860.4_Missense_Mutation_p.D404N|FAM21C_ENST00000537517.1_Missense_Mutation_p.D436N|FAM21C_ENST00000374362.2_Missense_Mutation_p.D460N|FAM21C_ENST00000540872.1_Missense_Mutation_p.D460N	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	460										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						tgatgatgatgacgaCTTTTT	0.498													9	32					0	0	0	0	A	46250521	G	A	46250521	3	1	35	1	0	0	0	0	1	0	0	0	5585	1290	45	2	1436	2	FAM21C	10	46250521	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08		46250521	89284226	64	6867											
BTAF1	9044	broad.mit.edu	37	chr10	93756262	93756262	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatatttttttggagaaggTtcttccgtggctgggagcaa	9	14	13	5	1	1	1	0	0	1	1	2	4	2	2	1	4	1	3	1	4	4	6			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:93756262T>C	ENST00000265990.6	+	24	3754	c.3446T>C	c.(3445-3447)gTt>gCt	p.V1149A	BTAF1_ENST00000544642.1_5'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1149					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGGAGAAGGTTCTTCCGTGG	0.433													3	63					0	0	0	0	C	93756262	T	C	93756262	3	2	35	1	0	0	0	0	1	0	0	0	1544	1725	60	5	3540	5	BTAF1	10	93756262	Missense_Mutation	SNP	T	TCGA-BA-A6DL-01A-21D-A30E-08	47505741	93756262	41778485	65	6868											
CYP2C8	1558	broad.mit.edu	37	chr10	96798665	96798665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctattacctgctgagaaaGgcatgaagtagtcacttttc	11	14	8	8	0	2	2	1	2	1	1	3	3	2	2	1	1	2	3	1	1	5	6			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:96798665G>T	ENST00000371270.3	-	8	1374	c.1280C>A	c.(1279-1281)cCt>cAt	p.P427H	CYP2C8_ENST00000535898.1_Missense_Mutation_p.P325H	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	427					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGCTGAGAAAGGCATGAAGTA	0.378													10	61					0.000978159	0.000997465	1	0	T	96798665	G	T	96798665	3	4	35	1	0	0	0	0	1	0	0	0	4199	1000	35	4	200	4	CYP2C8	10	96798665	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	3042403	96798665	38736082	66	6869											
HSPA12A	259217	broad.mit.edu	37	chr10	118434597	118434597	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acccagagccacagactggtCggcagagatgaacttgtcaa	13	6	11	11	1	1	4	1	1	0	3	2	5	1	4	2	2	2	1	2	2	2	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:118434597C>G	ENST00000369209.3	-	12	1827	c.1723G>C	c.(1723-1725)Gac>Cac	p.D575H		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	575							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ACAGACTGGTCGGCAGAGATG	0.592													26	64					0	0	0	0	G	118434597	C	G	118434597	3	3	35	1	0	0	0	0	1	0	0	0	7456	884	31	3	308	3	HSPA12A	10	118434597	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	21635932	118434597	17100150	67	6870											
PSMD13	5719	broad.mit.edu	37	chr11	250804	250804	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttctatactttacagcCtgatttagcagctaatgaag	11	15	7	8	0	2	2	0	2	2	0	2	2	2	2	1	0	5	2	1	0	6	8			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:250804C>G	ENST00000532097.1	+	10	1280	c.774_splice	c.e10-1	p.P259_splice	PSMD13_ENST00000431206.2_Splice_Site_p.P261_splice|PSMD13_ENST00000352303.5_Splice_Site_p.P259_splice	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	259	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		ACTTTACAGCCTGATTTAGCA	0.423											OREG0020657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	59					0	0	0	0	G	250804	C	G	250804	5	3	35	1	0	0	0	0	0	0	1	0	12775	695	24	4	895	4	PSMD13	11	250804	Splice_Site	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08		250804	134755712	68	6871											
FADS2	9415	broad.mit.edu	37	chr11	61605285	61605285	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccaccctgacctggaattCgtgggcaagttcttgaaacc	9	11	9	12	1	1	2	0	2	1	0	3	3	2	3	4	2	1	2	4	2	3	4			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:61605285C>T	ENST00000278840.4	+	2	873	c.243C>T	c.(241-243)ttC>ttT	p.F81F	FADS2_ENST00000522056.1_Silent_p.F50F|FADS2_ENST00000521849.1_Silent_p.F81F|FADS2_ENST00000257261.6_Silent_p.F59F	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	81	Cytochrome b5 heme-binding.				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACCTGGAATTCGTGGGCAAGT	0.597													9	29					0	0	0	0	T	61605285	C	T	61605285	2	4	35	1	0	0	0	0	0	0	0	1	5407	883	31	1		1	FADS2	11	61605285	Silent	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	61354481	61605285	73401231	69	6872											
SLC22A10	387775	broad.mit.edu	37	chr11	63057996	63057996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaccctgtgtggatggctGggtatatgatcaaagctact	11	11	12	7	0	1	2	1	1	0	1	1	3	1	3	1	3	3	3	1	3	5	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:63057996G>T	ENST00000332793.6	+	1	361	c.359G>T	c.(358-360)tGg>tTg	p.W120L	SLC22A10_ENST00000526800.1_Missense_Mutation_p.W68L|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	120						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTGGATGGCTGGGTATATGAT	0.473													34	99					2.68265e-12	3.03512e-12	1	0	T	63057996	G	T	63057996	3	4	35	1	0	0	0	0	1	0	0	0	14529	1357	47	4	361	4	SLC22A10	11	63057996	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	1452711	63057996	71948520	70	6873											
ZFPL1	7542	broad.mit.edu	37	chr11	64854194	64854194	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagattccttcctccagatCgatgaggtggtgagcccaga	9	9	11	12	1	0	5	0	2	0	3	4	6	3	5	5	2	1	0	5	2	0	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:64854194C>T	ENST00000294258.3	+	5	563	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	137					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						TCCTCCAGATCGATGAGGTGG	0.567													21	159					0	0	0	0	T	64854194	C	T	64854194	2	4	35	1	0	0	0	0	0	0	0	1	17751	874	31	1		1	ZFPL1	11	64854194	Silent	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	1796198	64854194	70152322	71	6874											
OR8B12	219858	broad.mit.edu	37	chr11	124413211	124413211	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatacgccatcgctgacaGgatgaaggactcagagacga	13	6	12	10	3	2	3	2	2	0	1	3	7	2	5	1	2	1	1	1	2	2	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:124413211G>A	ENST00000306842.2	-	1	364	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		ATCGCTGACAGGATGAAGGAC	0.488													19	49					0	0	0	0	A	124413211	G	A	124413211	2	1	35	1	0	0	0	0	0	0	0	1	11297	991	35	4		4	OR8B12	11	124413211	Silent	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	59559017	124413211	10593305	72	6875											
EI24	9538	broad.mit.edu	37	chr11	125453573	125453573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgaaggctactgcaggtCactgagttgcctgccatcca	10	9	10	12	0	1	2	1	2	0	0	2	2	2	2	3	2	5	3	3	2	3	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:125453573C>T	ENST00000278903.6	+	12	1257	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y	STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_3'UTR|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	340					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TACTGCAGGTCACTGAGTTGC	0.592													3	19					0	0	0	0	T	125453573	C	T	125453573	3	4	35	1	0	0	0	0	1	0	0	0	5021	826	29	2	1055	2	EI24	11	125453573	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	1040362	125453573	9552943	73	6876											
FOXM1	2305	broad.mit.edu	37	chr12	2968077	2968077	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgaactgaggagcctttgCggtgattcaagggggggagc	8	9	17	7	1	2	3	1	3	1	0	2	5	2	5	1	5	4	0	1	5	2	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:2968077C>T	ENST00000342628.2	-	10	2246	c.2133G>A	c.(2131-2133)ccG>ccA	p.P711P	FOXM1_ENST00000361953.3_Silent_p.P658P|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Silent_p.P673P	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	673					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGAGCCTTTGCGGTGATTCAA	0.592													4	134					0	0	0	0	T	2968077	C	T	2968077	2	4	35	1	0	0	0	0	0	0	0	1	6065	755	27	1		1	FOXM1	12	2968077	Silent	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08		2968077	130883818	74	6877											
ADAMTS20	80070	broad.mit.edu	37	chr12	43748066	43748066	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaagacactttccacaGtaccctccacatttgccgaa	12	9	7	13	1	0	2	0	1	0	1	2	4	2	3	4	1	2	1	4	1	3	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:43748066G>A	ENST00000389420.3	-	39	5678	c.5679C>T	c.(5677-5679)taC>taT	p.Y1893Y		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1893	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTTTCCACAGTACCCTCCAC	0.413													4	8					0	0	0	0	A	43748066	G	A	43748066	2	1	35	1	0	0	0	0	0	0	0	1	266	1024	36	4		4	ADAMTS20	12	43748066	Silent	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	40779989	43748066	90103829	75	6878											
SP1	6667	broad.mit.edu	37	chr12	53776193	53776193	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgtggctgccgctcccaaCttacagaaccagcaagttct	9	10	9	13	1	1	1	0	0	1	1	2	1	2	1	3	1	5	5	3	1	4	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:53776193C>T	ENST00000426431.2	+	3	501	c.441C>T	c.(439-441)aaC>aaT	p.N147N	SP1_ENST00000327443.4_Silent_p.N154N	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	154	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CCGCTCCCAACTTACAGAACC	0.512													45	82					0	0	0	0	T	53776193	C	T	53776193	2	4	35	1	0	0	0	0	0	0	0	1	15047	564	20	4		4	SP1	12	53776193	Silent	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	10028127	53776193	80075702	76	6879											
AVPR1A	552	broad.mit.edu	37	chr12	63541224	63541224	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactgtttgttgggcttcgaTtgttagaataaaaagtctgt	10	17	10	4	1	1	1	0	0	1	1	2	2	1	1	0	1	1	4	0	1	6	7			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:63541224T>A	ENST00000299178.2	-	2	1277	c.1172A>T	c.(1171-1173)aAt>aTt	p.N391I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	391					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGGCTTCGATTGTTAGAATA	0.408													61	100					0	0	0	0	A	63541224	T	A	63541224	3	1	35	1	0	0	0	0	1	0	0	0	1235	1493	52	5	88	5	AVPR1A	12	63541224	Missense_Mutation	SNP	T	TCGA-BA-A6DL-01A-21D-A30E-08	9765031	63541224	70310671	77	6880											
RFX4	5992	broad.mit.edu	37	chr12	107141334	107141334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgtgccttcttcctccGtcacacacaggataccagtt	8	12	6	15	1	3	0	2	0	1	0	5	1	5	1	4	1	2	1	4	1	1	4			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:107141334G>A	ENST00000392842.1	+	16	2167	c.1753G>A	c.(1753-1755)Gtc>Atc	p.V585I	RFX4_ENST00000357881.4_Missense_Mutation_p.V594I|RFX4_ENST00000229387.5_Missense_Mutation_p.V491I|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	585					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TTCTTCCTCCGTCACACACAG	0.507													30	73					0	0	0	0	A	107141334	G	A	107141334	3	1	35	1	0	0	0	0	1	0	0	0	13347	1145	40	1	2020	1	RFX4	12	107141334	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	43600110	107141334	26710561	78	6881											
C12orf49	79794	broad.mit.edu	37	chr12	117175616	117175616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcttgaaggtgctgctgagGaagtagacgagcgacagccc	10	7	15	9	2	0	3	0	2	0	1	0	6	0	4	1	2	5	4	1	2	3	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:117175616G>A	ENST00000536380.1	-	1	258	c.157C>T	c.(157-159)Cct>Tct	p.P53S	C12orf49_ENST00000261318.3_Silent_p.F30F			Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	0						extracellular region				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		TGCTGCTGAGGAAGTAGACGA	0.627													20	25					0	0	0	0	A	117175616	G	A	117175616	3	1	35	1	0	0	0	0	1	0	0	0	1705	1165	41	2	547	2	C12orf49	12	117175616	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	10034282	117175616	16676279	79	6882											
GPR133	283383	broad.mit.edu	37	chr12	131476897	131476897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatccctcagcttacccaGtaagtccctctcggagcaga	9	10	8	14	1	2	1	1	0	1	1	5	2	4	2	3	1	3	4	3	1	3	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:131476897G>A	ENST00000261654.5	+	8	1485	c.926G>A	c.(925-927)aGt>aAt	p.S309N	GPR133_ENST00000535015.1_Missense_Mutation_p.S341N|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	309					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGCTTACCCAGTAAGTCCCTC	0.502													56	96					0	0	0	0	A	131476897	G	A	131476897	3	1	35	1	0	0	0	0	1	0	0	0	6692	1029	36	4	956	4	GPR133	12	131476897	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	14301281	131476897	2374998	80	6883											
CPNE6	9362	broad.mit.edu	37	chr14	24546877	24546877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagtactacgccagccagGgcatcagccctggggctccc	7	6	13	15	1	1	0	1	0	0	0	2	1	2	1	4	4	4	3	4	4	2	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:24546877G>A	ENST00000397016.2	+	17	1923	c.1612G>A	c.(1612-1614)Ggc>Agc	p.G538S	CPNE6_ENST00000216775.2_Missense_Mutation_p.G538S|CPNE6_ENST00000537691.1_Missense_Mutation_p.G593S			O95741	CPNE6_HUMAN	copine VI (neuronal)	538					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CGCCAGCCAGGGCATCAGCCC	0.667													50	217					0	0	0	0	A	24546877	G	A	24546877	3	1	35	1	0	0	0	0	1	0	0	0	3846	1232	43	4	1670	4	CPNE6	14	24546877	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08		24546877	82802663	81	6884											
PSMA6	5687	broad.mit.edu	37	chr14	35761690	35761690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctaccaacatgtcccGtggttccagcgccggttttg	5	13	10	13	3	1	0	0	0	1	0	3	0	3	0	4	2	4	3	4	2	2	5			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:35761690G>A	ENST00000261479.4	+	1	128	c.8G>A	c.(7-9)cGt>cAt	p.R3H	PSMA6_ENST00000556506.1_Missense_Mutation_p.R3H|KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.R3H|PSMA6_ENST00000540871.1_Intron	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	3					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AACATGTCCCGTGGTTCCAGC	0.572													37	127					0	0	0	0	A	35761690	G	A	35761690	3	1	35	1	0	0	0	0	1	0	0	0	12750	1145	40	1	10	1	PSMA6	14	35761690	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	11214813	35761690	71587850	82	6885											
FAM161B	145483	broad.mit.edu	37	chr14	74404394	74404394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattctttcgctcttttacGgtcattgttcctggaattag	7	19	7	8	2	3	0	1	0	2	0	5	1	4	1	1	2	1	2	1	2	4	8			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:74404394G>A	ENST00000286544.3	-	7	1963	c.1765C>T	c.(1765-1767)Cgt>Tgt	p.R589C	FAM161B_ENST00000534936.1_Missense_Mutation_p.R526C|RP5-1021I20.5_ENST00000555916.1_RNA	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GCTCTTTTACGGTCATTGTTC	0.368													4	146					0	0	0	0	A	74404394	G	A	74404394	3	1	35	1	0	0	0	0	1	0	0	0	5514	1116	39	1	379	1	FAM161B	14	74404394	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	38642704	74404394	32945146	83	6886											
CATSPERB	79820	broad.mit.edu	37	chr14	92136294	92136294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttctcagggtgctcacaGaggcaatggcagttttcctg	8	13	11	9	0	2	1	2	0	1	1	4	1	3	1	1	3	1	4	1	3	2	4			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:92136294G>T	ENST00000256343.3	-	14	1307	c.1151C>A	c.(1150-1152)tCt>tAt	p.S384Y		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	384					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GGTGCTCACAGAGGCAATGGC	0.363													18	108					4.96729e-08	5.42204e-08	1	0	T	92136294	G	T	92136294	3	4	35	1	0	0	0	0	1	0	0	0	2716	942	33	2	2255	2	CATSPERB	14	92136294	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	17731900	92136294	15213246	84	6887											
PML	5371	broad.mit.edu	37	chr15	74327691	74327691	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaccagcccgctgagcAggctgccacccccgatgctg	6	5	10	20	2	0	1	0	1	0	0	1	2	1	1	7	1	4	4	7	1	0	0			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr15:74327691A>T	ENST00000268059.6	+	8	1985	c.1889A>T	c.(1888-1890)cAg>cTg	p.Q630L	PML_ENST00000569965.1_Intron|PML_ENST00000569477.1_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000565898.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Missense_Mutation_p.Q582L|PML_ENST00000563500.1_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000268058.3_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	31					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCGCTGAGCAGGCTGCCACC	0.662			T	"RARA, PAX5"	"APL, ALL"								56	115					0	0	0	0	T	74327691	A	T	74327691	3	4	35	1	0	0	0	0	1	0	0	0	12207	188	7	5	2053	5	PML	15	74327691	Missense_Mutation	SNP	A	TCGA-BA-A6DL-01A-21D-A30E-08		74327691	28203701	85	6888											
ARNT2	9915	broad.mit.edu	37	chr15	80743272	80743272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcccgttgcccccatggCggccaccggacaggtgagga	6	6	15	14	3	0	1	0	1	0	0	0	3	0	3	5	5	2	2	5	5	0	2	rs138280339		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr15:80743272C>T	ENST00000533983.1	+	3	389	c.50C>T	c.(49-51)gCg>gTg	p.A17V	ARNT2_ENST00000303329.4_Missense_Mutation_p.A28V|ARNT2_ENST00000527771.1_Missense_Mutation_p.A17V			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	28					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCCCCCATGGCGGCCACCGGA	0.567													5	281					0	0	0	0	T	80743272	C	T	80743272	3	4	35	1	0	0	0	0	1	0	0	0	970	768	27	1	89	1	ARNT2	15	80743272	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	6415581	80743272	21788120	86	6889											
TARSL2	123283	broad.mit.edu	37	chr15	102261498	102261498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaaaagcttcaatctttCttttatgaaaattggttgat	13	18	5	5	0	4	2	2	2	2	0	4	2	4	2	0	1	1	2	0	1	6	7			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr15:102261498C>T	ENST00000335968.3	-	3	613	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	133					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCAATCTTTCTTTTATGAAA	0.353													15	33					0	0	0	0	T	102261498	C	T	102261498	3	4	35	1	0	0	0	0	1	0	0	0	15652	922	32	2	2079	2	TARSL2	15	102261498	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	21518226	102261498	269894	87	6890											
PMM2	5373	broad.mit.edu	37	chr16	8941585	8941585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcgtgtctttccagggtgGcaatgaccatgagatcttca	8	13	10	10	1	3	2	1	2	2	1	5	3	4	2	2	2	0	1	2	2	1	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr16:8941585G>A	ENST00000268261.4	+	8	710	c.644G>A	c.(643-645)gGc>gAc	p.G215D	PMM2_ENST00000569958.1_Missense_Mutation_p.G124D|PMM2_ENST00000566983.1_Missense_Mutation_p.G188D|PMM2_ENST00000539622.1_Missense_Mutation_p.G132D|PMM2_ENST00000537352.1_Missense_Mutation_p.G90D|RP11-152P23.2_ENST00000567942.1_RNA	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	215					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						TTCCAGGGTGGCAATGACCAT	0.542													4	145					0	0	0	0	A	8941585	G	A	8941585	3	1	35	1	0	0	0	0	1	0	0	0	12209	1203	42	4	674	4	PMM2	16	8941585	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08		8941585	81413168	88	6891											
CDH8	1006	broad.mit.edu	37	chr16	61760936	61760936	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcacaatataatgcaggtTagtcaaatatgagacagttg	16	11	9	5	0	1	1	1	1	0	1	1	2	1	1	0	1	2	4	0	1	6	5			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr16:61760936T>A	ENST00000584337.1	-	9	2119	c.1598A>T	c.(1597-1599)tAa>tTa	p.*533L	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577390.1_Intron|CDH8_ENST00000577730.1_Intron			P55286	CADH8_HUMAN	cadherin 8, type 2	0	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAATGCAGGTTAGTCAAATAT	0.353													21	53					0	0	0	0	A	61760936	T	A	61760936	4	1	35	1	0	0	0	0	0	0	0	0	3145	1769	61	5		5	CDH8	16	61760936	Nonstop_Mutation	SNP	T	TCGA-BA-A6DL-01A-21D-A30E-08	52819351	61760936	28593817	89	6892											
PLCG2	5336	broad.mit.edu	37	chr16	81973600	81973600	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgctttgtggtttatgaagaAgatatgttcagcgatcccaa	11	13	10	7	2	1	3	1	1	0	2	2	4	2	3	1	1	1	3	1	1	5	5			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr16:81973600A>T	ENST00000359376.3	+	30	3631	c.3417A>T	c.(3415-3417)gaA>gaT	p.E1139D		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1139	C2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTTATGAAGAAGATATGTTCA	0.428													31	106					0	0	0	0	T	81973600	A	T	81973600	3	4	35	1	0	0	0	0	1	0	0	0	12108	69	3	5	3531	5	PLCG2	16	81973600	Missense_Mutation	SNP	A	TCGA-BA-A6DL-01A-21D-A30E-08	20212664	81973600	8381153	90	6893											
ASGR2	433	broad.mit.edu	37	chr17	7005470	7005470	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagccatcactgtccgtgaGacctatccaggtattgaagg	11	9	11	10	1	1	3	1	2	0	2	3	4	3	3	4	2	1	1	4	2	3	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:7005470G>C	ENST00000380952.2	-	8	973	c.709C>G	c.(709-711)Ctc>Gtc	p.L237V	ASGR2_ENST00000355035.5_Missense_Mutation_p.L237V|ASGR2_ENST00000446679.2_Missense_Mutation_p.L218V|ASGR2_ENST00000254850.7_Missense_Mutation_p.L213V	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	237	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CTGTCCGTGAGACCTATCCAG	0.463													62	326					0	0	0	0	C	7005470	G	C	7005470	3	2	35	1	0	0	0	0	1	0	0	0	1044	942	33	2	234	2	ASGR2	17	7005470	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08		7005470	74189740	91	6894											
TP53	7157	broad.mit.edu	37	chr17	7577550	7577550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggcctccggttcatgccgCccatgcaggaactgttacac	7	9	11	14	2	1	0	1	0	0	0	2	1	2	1	4	3	4	3	4	3	2	2	rs28934572		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:7577550C>A	ENST00000420246.2	-	7	863	c.731G>T	c.(730-732)gGc>gTc	p.G244V	TP53_ENST00000445888.2_Missense_Mutation_p.G244V|TP53_ENST00000269305.4_Missense_Mutation_p.G244V|TP53_ENST00000413465.2_Missense_Mutation_p.G244V|TP53_ENST00000455263.2_Missense_Mutation_p.G244V|TP53_ENST00000359597.4_Missense_Mutation_p.G244V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G244D(47)|p.G244V(14)|p.G244A(9)|p.0?(8)|p.?(5)|p.G151D(4)|p.G244fs*4(3)|p.G244_M246>V(3)|p.G244fs*19(1)|p.G151_M153>V(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTCATGCCGCCCATGCAGGA	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	85					0.000442599	0.000457353	1	0	A	7577550	C	A	7577550	3	1	35	1	0	0	0	0	1	0	0	0	16476	739	26	4	559	4	TP53	17	7577550	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	572080	7577550	73617660	92	6895											
TP53	7157	broad.mit.edu	37	chr17	7579373	7579373	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagacggaaaccgtagctgCcctggtaggttttctgggaa	9	9	13	10	2	1	1	0	0	1	1	1	3	1	3	3	4	3	4	3	4	4	4			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:7579373C>A	ENST00000420246.2	-	4	446	c.314G>T	c.(313-315)gGc>gTc	p.G105V	TP53_ENST00000445888.2_Missense_Mutation_p.G105V|TP53_ENST00000269305.4_Missense_Mutation_p.G105V|TP53_ENST00000413465.2_Missense_Mutation_p.G105V|TP53_ENST00000455263.2_Missense_Mutation_p.G105V|TP53_ENST00000359597.4_Missense_Mutation_p.G105V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	105	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G105D(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCGTAGCTGCCCTGGTAGGT	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			41	109					6.2361e-21	7.26764e-21	1	0	A	7579373	C	A	7579373	3	1	35	1	0	0	0	0	1	0	0	0	16476	739	26	4	988	4	TP53	17	7579373	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	1823	7579373	73615837	93	6896											
ZNF287	57336	broad.mit.edu	37	chr17	16455357	16455357	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacatttatagggtctctctCcagtatgagttctctgatgt	8	17	8	8	0	3	2	0	2	3	0	6	2	3	2	1	1	1	2	1	1	4	6			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:16455357C>G	ENST00000395824.1	-	6	2716	c.2099G>C	c.(2098-2100)gGa>gCa	p.G700A	ZNF287_ENST00000395825.3_Missense_Mutation_p.G700A			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	693					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GGGTCTCTCTCCAGTATGAGT	0.368													12	80					0	0	0	0	G	16455357	C	G	16455357	3	3	35	1	0	0	0	0	1	0	0	0	17920	855	30	2	190	2	ZNF287	17	16455357	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	8875984	16455357	64739853	94	6897											
IKZF3	22806	broad.mit.edu	37	chr17	37947745	37947745	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaggtgacacttaaaaggTttttcccctgtgtgcagttt	9	14	10	8	0	0	2	0	1	0	1	1	2	1	2	2	2	1	3	2	2	2	4			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:37947745T>G	ENST00000346872.3	-	5	577	c.516A>C	c.(514-516)aaA>aaC	p.K172N	IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000346243.3_Missense_Mutation_p.K172N|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000535189.1_Missense_Mutation_p.K138N|IKZF3_ENST00000439167.2_Missense_Mutation_p.K138N|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.K172N|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377958.2_Missense_Mutation_p.K85N|IKZF3_ENST00000351680.3_Missense_Mutation_p.K172N|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000467757.1_Intron	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	172					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACTTAAAAGGTTTTTCCCCTG	0.458													54	144					0	0	0	0	G	37947745	T	G	37947745	3	3	35	1	0	0	0	0	1	0	0	0	7669	1722	60	5	1029	5	IKZF3	17	37947745	Missense_Mutation	SNP	T	TCGA-BA-A6DL-01A-21D-A30E-08	21492388	37947745	43247465	95	6898											
SMARCE1	6605	broad.mit.edu	37	chr17	38787103	38787103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctttcctcctgccttttgCgggcctgttcctctgcctgt	0	16	8	17	1	1	0	0	0	1	0	4	0	4	0	7	1	3	1	7	1	0	4			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:38787103C>T	ENST00000348513.6	-	10	1670	c.890G>A	c.(889-891)cGc>cAc	p.R297H	SMARCE1_ENST00000578044.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R262H|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R279H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R227H|SMARCE1_ENST00000544009.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R262H	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	297					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	p.R297H(1)		large_intestine(1)	1		Breast(137;0.000812)				CTGCCTTTTGCGGGCCTGTTC	0.507													4	181					0	0	0	0	T	38787103	C	T	38787103	3	4	35	1	0	0	0	0	1	0	0	0	14868	768	27	1	353	1	SMARCE1	17	38787103	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	839358	38787103	42408107	96	6899											
EPX	8288	broad.mit.edu	37	chr17	56281612	56281612	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagaaacgaggtgttttcaCcaaaagacagcgcaaggccc	14	5	11	11	2	1	2	1	0	0	2	1	3	1	2	2	2	2	3	2	2	4	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:56281612C>A	ENST00000225371.5	+	12	2086	c.1976C>A	c.(1975-1977)aCc>aAc	p.T659N		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	659				RDGDRFWWQKRGVFTK -> ETETGSGGRTRCFHQ (in Ref. 3; AA sequence).	hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GGTGTTTTCACCAAAAGACAG	0.493													30	103					4.74835e-14	5.41173e-14	1	0	A	56281612	C	A	56281612	3	1	35	1	0	0	0	0	1	0	0	0	5238	507	18	4	2022	4	EPX	17	56281612	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	17494509	56281612	24913598	97	6900											
EVPL	2125	broad.mit.edu	37	chr17	74010655	74010655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcatcctgcaccaccttcTccctgcaggaggacgaggcc	7	6	11	17	2	1	0	0	0	1	0	3	3	2	2	5	4	2	3	5	4	0	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:74010655T>C	ENST00000301607.3	-	18	2478	c.2225A>G	c.(2224-2226)gAg>gGg	p.E742G	EVPL_ENST00000586740.1_Missense_Mutation_p.E764G	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	742	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CACCACCTTCTCCCTGCAGGA	0.652													14	57					0	0	0	0	C	74010655	T	C	74010655	3	2	35	1	0	0	0	0	1	0	0	0	5330	1551	54	5	3896	5	EVPL	17	74010655	Missense_Mutation	SNP	T	TCGA-BA-A6DL-01A-21D-A30E-08	17729043	74010655	7184555	98	6901											
COLEC12	81035	broad.mit.edu	37	chr18	321680	321680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgtctccctgtctttttCgcaaatgaagttattgacgt	8	16	7	10	2	2	2	0	2	2	0	4	2	2	2	2	0	0	2	2	0	3	4			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr18:321680C>T	ENST00000400256.3	-	9	2398	c.2191G>A	c.(2191-2193)Gaa>Aaa	p.E731K		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	731	C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTGTCTTTTTCGCAAATGAAG	0.512													59	434					0	0	0	0	T	321680	C	T	321680	3	4	35	1	0	0	0	0	1	0	0	0	3742	893	31	1	45	1	COLEC12	18	321680	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08		321680	77755568	99	6902											
DOT1L	84444	broad.mit.edu	37	chr19	2180755	2180755	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatcatcgagaccatccGgtgagtgcacggcctgcagt	10	8	12	11	3	1	3	1	2	0	1	3	4	2	3	3	2	2	2	3	2	1	0			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:2180755G>A	ENST00000398665.3	+	2	161	c.125_splice	c.e2+1	p.R42_splice		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	42						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GAGACCATCCGGTGAGTGCAC	0.567													8	35					0	0	0	0	A	2180755	G	A	2180755	5	1	35	1	0	0	0	0	0	0	1	0	4745	1130	39	1	131	1	DOT1L	19	2180755	Splice_Site	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08		2180755	56948228	100	6903											
XAB2	56949	broad.mit.edu	37	chr19	7687231	7687231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaccttgaagctctcctCgaagtacttgtgctcctcca	7	12	6	16	1	2	1	1	1	1	0	6	2	4	1	5	0	3	3	5	0	3	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:7687231C>T	ENST00000358368.4	-	12	1640	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	XAB2_ENST00000534844.1_Missense_Mutation_p.E532K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	535					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AAGCTCTCCTCGAAGTACTTG	0.597								Direct reversal of damage;Nucleotide excision repair (NER)					37	195					0	0	0	0	T	7687231	C	T	7687231	3	4	35	1	0	0	0	0	1	0	0	0	17514	893	31	1	996	1	XAB2	19	7687231	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	5506476	7687231	51441752	101	6904											
SLC44A2	57153	broad.mit.edu	37	chr19	10742824	10742824	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatggtgattctggtgcTgggctacggtgcgtcacccc	5	11	13	12	2	3	1	2	1	1	0	3	1	3	1	2	4	3	2	2	4	1	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:10742824T>A	ENST00000586078.1	+	10	924	c.815T>A	c.(814-816)cTg>cAg	p.L272Q	SLC44A2_ENST00000335757.5_Missense_Mutation_p.L272Q|SLC44A2_ENST00000407327.4_Missense_Mutation_p.L270Q	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	272					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATTCTGGTGCTGGGCTACGGT	0.542													47	116					0	0	0	0	A	10742824	T	A	10742824	3	1	35	1	0	0	0	0	1	0	0	0	14724	1580	55	5	888	5	SLC44A2	19	10742824	Missense_Mutation	SNP	T	TCGA-BA-A6DL-01A-21D-A30E-08	3055593	10742824	48386159	102	6905											
EHD2	30846	broad.mit.edu	37	chr19	48244517	48244517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctccccaactcagtgctggGgcgcatctggaagctcagcg	7	7	13	14	2	3	0	2	0	1	0	4	1	4	1	2	3	4	4	2	3	2	0			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:48244517G>T	ENST00000263277.3	+	6	1711	c.1460G>T	c.(1459-1461)gGg>gTg	p.G487V	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.G351V	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	487	EF-hand.|EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TCAGTGCTGGGGCGCATCTGG	0.637													38	53					8.69298e-16	9.98083e-16	1	0	T	48244517	G	T	48244517	3	4	35	1	0	0	0	0	1	0	0	0	5014	1232	43	4	1478	4	EHD2	19	48244517	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	37501693	48244517	10884466	103	6906											
PLEKHA4	57664	broad.mit.edu	37	chr19	49362197	49362197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagggaggtcctcggcGgggagtagggggtcgggaga	7	5	22	7	3	1	2	1	0	0	2	4	5	2	4	1	8	0	1	1	8	1	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:49362197G>A	ENST00000263265.6	-	8	1447	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R298C|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	298	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGTCCTCGGCGGGGAGTAGGG	0.662													4	124					0	0	0	0	A	49362197	G	A	49362197	3	1	35	1	0	0	0	0	1	0	0	0	12130	1116	39	1	1499	1	PLEKHA4	19	49362197	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	1117680	49362197	9766786	104	6907											
ATF5	22809	broad.mit.edu	37	chr19	50434167	50434167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccctgctcccagctagtggGctgggatggctcgtagacta	6	9	14	12	1	0	1	0	0	0	1	2	2	1	2	2	3	2	5	2	3	3	3	rs150212158	byFrequency	TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:50434167G>A	ENST00000423777.2	+	2	437	c.60G>A	c.(58-60)ggG>ggA	p.G20G	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000600336.1_Silent_p.G20G|ATF5_ENST00000595125.1_Silent_p.G20G	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	20					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CAGCTAGTGGGCTGGGATGGC	0.672													16	18					0	0	0	0	A	50434167	G	A	50434167	2	1	35	1	0	0	0	0	0	0	0	1	1087	1190	42	4		4	ATF5	19	50434167	Silent	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	1071970	50434167	8694816	105	6908											
ZNF615	284370	broad.mit.edu	37	chr19	52496176	52496176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacaaggatagacaagtgcGcaaaagctttcccacaatca	17	7	7	10	1	1	1	1	0	0	1	2	2	2	2	1	1	3	2	1	1	7	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:52496176G>A	ENST00000602063.1	-	6	2502	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	ZNF615_ENST00000391795.3_Missense_Mutation_p.A723V|ZNF615_ENST00000594083.1_Missense_Mutation_p.A729V|ZNF615_ENST00000376716.5_Missense_Mutation_p.A718V|ZNF615_ENST00000598071.1_Missense_Mutation_p.A729V			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	718					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGACAAGTGCGCAAAAGCTTT	0.438													4	197					0	0	0	0	A	52496176	G	A	52496176	3	1	35	1	0	0	0	0	1	0	0	0	18135	1087	38	1	46	1	ZNF615	19	52496176	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	2062009	52496176	6632807	106	6909											
ZNF416	55659	broad.mit.edu	37	chr19	58083969	58083969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcacactcaaagggcctagCtccactgtgaattaactggt	12	10	8	11	0	2	1	2	1	0	0	3	1	3	1	2	2	2	1	2	2	4	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:58083969C>T	ENST00000196489.3	-	4	1525	c.1303G>A	c.(1303-1305)Gct>Act	p.A435T		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A435S(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAGGGCCTAGCTCCACTGTGA	0.458													10	102					0	0	0	0	T	58083969	C	T	58083969	3	4	35	1	0	0	0	0	1	0	0	0	17988	797	28	4	485	4	ZNF416	19	58083969	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	5587793	58083969	1045014	107	6910											
ZSCAN1	284312	broad.mit.edu	37	chr19	58549368	58549368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagcgggccgcacctcgCgctgggccagctctggacgc	4	4	17	16	6	1	0	0	0	1	0	2	2	1	1	3	4	2	3	3	4	0	0			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:58549368C>T	ENST00000282326.1	+	3	411	c.164C>T	c.(163-165)gCg>gTg	p.A55V	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A55V|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A55V	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	55	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGCACCTCGCGCTGGGCCAG	0.706													5	58					0	0	0	0	T	58549368	C	T	58549368	3	4	35	1	0	0	0	0	1	0	0	0	18319	768	27	1	166	1	ZSCAN1	19	58549368	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	465399	58549368	579615	108	6911											
PLCB1	23236	broad.mit.edu	37	chr20	8737794	8737794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgacacccaagccaccCtcccaggctctccacagcca	10	4	5	22	0	1	1	0	1	1	0	3	1	2	1	7	1	2	1	7	1	1	0			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr20:8737794C>T	ENST00000378641.3	+	24	3100	c.2625C>T	c.(2623-2625)ccC>ccT	p.P875P	PLCB1_ENST00000338037.6_Silent_p.P875P|PLCB1_ENST00000378637.2_Silent_p.P875P|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	875					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCAAGCCACCCTCCCAGGCTC	0.547													24	56					0	0	0	0	T	8737794	C	T	8737794	2	4	35	1	0	0	0	0	0	0	0	1	12099	668	24	4		4	PLCB1	20	8737794	Silent	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08		8737794	54287726	109	6912											
PYGB	5834	broad.mit.edu	37	chr20	25255257	25255257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgatgactggctgcgctaCggcaacccctgggagaaagc	9	5	14	13	3	0	2	0	1	0	1	0	4	0	2	3	3	4	3	3	3	3	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr20:25255257C>T	ENST00000216962.4	+	5	668	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	186					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GGCTGCGCTACGGCAACCCCT	0.647													4	162					0	0	0	0	T	25255257	C	T	25255257	2	4	35	1	0	0	0	0	0	0	0	1	12942	547	19	1		1	PYGB	20	25255257	Silent	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	16517463	25255257	37770263	110	6913											
FAM83D	81610	broad.mit.edu	37	chr20	37580850	37580850	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagtcttcctcctctgtgtCttcccaaggctctgtggcaa	6	13	9	13	0	4	0	0	0	4	0	7	1	7	0	3	2	0	2	3	2	3	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr20:37580850C>G	ENST00000217429.4	+	4	1576	c.1535C>G	c.(1534-1536)tCt>tGt	p.S512C		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	482					cell division|mitosis	cytoplasm|spindle pole		p.S512C(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TCCTCTGTGTCTTCCCAAGGC	0.507													12	124					0	0	0	0	G	37580850	C	G	37580850	3	3	35	1	0	0	0	0	1	0	0	0	5682	913	32	2	1549	2	FAM83D	20	37580850	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	12325593	37580850	25444670	111	6914											
GNAS	2778	broad.mit.edu	37	chr20	57429103	57429103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcggcagtcgcggcctcGagtgcggtccgcctcactcc	3	8	13	17	7	1	0	1	0	0	0	6	1	3	0	4	3	1	1	4	3	0	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr20:57429103G>T	ENST00000306120.3	+	1	593	c.593G>T	c.(592-594)cGa>cTa	p.R198L	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Silent_p.S261S|GNAS_ENST00000371100.4_Silent_p.S261S|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Silent_p.S261S			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCGCGGCCTCGAGTGCGGTCC	0.662			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			6	52					5.9392e-07	6.43759e-07	1	0	T	57429103	G	T	57429103	3	4	35	1	0	0	0	0	1	0	0	0	6561	1058	37	3	1527	3	GNAS	20	57429103	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	19848253	57429103	5596417	112	6915											
COL6A2	1292	broad.mit.edu	37	chr21	47532717	47532717	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtctgtcttttctgcaGaaacacgaagcctacggaga	11	10	10	10	2	3	2	0	0	3	2	3	4	3	2	1	1	4	2	1	1	3	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr21:47532717G>T	ENST00000300527.4	+	4	818		c.e4-1		COL6A2_ENST00000397763.1_Splice_Site|COL6A2_ENST00000310645.5_Splice_Site|COL6A2_ENST00000460886.1_Splice_Site|COL6A2_ENST00000357838.4_Splice_Site|COL6A2_ENST00000409416.1_Splice_Site	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTTTTCTGCAGAAACACGAAG	0.642													13	105					1.49906e-05	1.58064e-05	1	0	T	47532717	G	T	47532717	5	4	35	1	0	0	0	0	0	0	1	0	3730	956	33	2	724	2	COL6A2	21	47532717	Splice_Site	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08		47532717	597178	113	6916											
MYO18B	84700	broad.mit.edu	37	chr22	26388443	26388443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaagtggcatccagtGacagtgatactgagaggtaa	14	8	14	5	0	0	4	0	3	0	2	1	6	1	5	1	3	1	2	1	3	4	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr22:26388443G>T	ENST00000335473.7	+	40	6521	c.6271G>T	c.(6271-6273)Gac>Tac	p.D2091Y	MYO18B_ENST00000536101.1_Missense_Mutation_p.D2091Y|MYO18B_ENST00000407587.2_Missense_Mutation_p.D2092Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2091						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCATCCAGTGACAGTGATAC	0.622													20	63					1.50039e-11	1.68522e-11	1	0	T	26388443	G	T	26388443	3	4	35	1	0	0	0	0	1	0	0	0	10136	1290	45	2	6425	2	MYO18B	22	26388443	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08		26388443	24916123	114	6917											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31844168	31844168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggggctcatgggtttgcGcatgccttggaatggatctc	6	12	15	8	1	2	0	1	0	1	0	3	3	2	2	1	5	2	3	1	5	1	2			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr22:31844168G>A	ENST00000397525.1	-	13	2042	c.1819C>T	c.(1819-1821)Cgc>Tgc	p.R607C	EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R262C|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R583C|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R432C|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R607C	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	607						nucleus	protein binding|protein transporter activity	p.R607C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATGGGTTTGCGCATGCCTTGG	0.532													4	193					0	0	0	0	A	31844168	G	A	31844168	3	1	35	1	0	0	0	0	1	0	0	0	5073	1087	38	1	1169	1	EIF4ENIF1	22	31844168	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	5455725	31844168	19460398	115	6918											
MICALL1	85377	broad.mit.edu	37	chr22	38329111	38329111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagctccggtgcctcctcaAtaagccaggtgagtgcagcc	8	8	12	13	1	1	2	1	2	0	0	3	2	3	2	5	2	5	2	5	2	2	1			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr22:38329111A>G	ENST00000215957.6	+	13	2426	c.2300A>G	c.(2299-2301)aAt>aGt	p.N767S	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	767						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TGCCTCCTCAATAAGCCAGGT	0.597													34	75					0	0	0	0	G	38329111	A	G	38329111	3	3	35	1	0	0	0	0	1	0	0	0	9642	101	4	5	2350	5	MICALL1	22	38329111	Missense_Mutation	SNP	A	TCGA-BA-A6DL-01A-21D-A30E-08	6484943	38329111	12975455	116	6919											
DGKK	139189	broad.mit.edu	37	chrX	50165595	50165596	+	RNA	INS	-	-	AC																															aaagagacattaaaaggtaaINSacacacacacacacacacac																								rs59226442		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chrX:50165595_50165596insAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAAAGGTAAacacacacaca	0.411													3	6	---	---	---	---					AC	50165596	-	AC	50165595	6	5	35	0	1	1	1	0	0	0	0	0	4509	29	1	0		0	DGKK	23	50165595	RNA	INS	-	TCGA-BA-A6DL-01A-21D-A30E-08		50165595	105104965	117	6920											
MAGT1	84061	broad.mit.edu	37	chrX	77131009	77131009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtggggctttcacaaggCgacggaacttgtctccattc	7	11	12	11	3	2	0	1	0	1	0	5	2	2	1	1	5	1	1	1	5	2	3			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chrX:77131009C>T	ENST00000358075.6	-	2	370	c.284G>A	c.(283-285)cGc>cAc	p.R95H	MAGT1_ENST00000373336.3_Missense_Mutation_p.R63H	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	63					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TTTCACAAGGCGACGGAACTT	0.418													27	61					0	0	0	0	T	77131009	C	T	77131009	3	4	35	1	0	0	0	0	1	0	0	0	9265	768	27	1	855	1	MAGT1	23	77131009	Missense_Mutation	SNP	C	TCGA-BA-A6DL-01A-21D-A30E-08	26965414	77131009	78139551	118	6921											
GPR50	9248	broad.mit.edu	37	chrX	150348704	150348704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatctggaccaaagtgctgGcggcccgtgaccctgcaggg	7	6	16	12	2	1	1	0	1	1	0	1	3	1	3	3	5	2	2	3	5	1	0			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chrX:150348704G>A	ENST00000218316.3	+	2	718	c.649G>A	c.(649-651)Gcg>Acg	p.A217T		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	217					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGTGCTGGCGGCCCGTGA	0.527													56	90					0	0	0	0	A	150348704	G	A	150348704	3	1	35	1	0	0	0	0	1	0	0	0	6746	1203	42	4	655	4	GPR50	23	150348704	Missense_Mutation	SNP	G	TCGA-BA-A6DL-01A-21D-A30E-08	73217695	150348704	4921856	119	6922											
CYP4B1	1580	broad.mit.edu	37	chr1	47283811	47283812	+	Frame_Shift_Del	DEL	CT	CT	-																															ctgtcccttcaggtctttgaCtctctgcgcttttccactga																										TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr1:47283811_47283812delCT	ENST00000271153.4	+	11	1314_1315	c.1278_1279delCT	c.(1276-1281)gactfs	p.DS426fs	CYP4B1_ENST00000452782.2_Frame_Shift_Del_p.DS264fs|CYP4B1_ENST00000371923.4_Frame_Shift_Del_p.DS427fs|CYP4B1_ENST00000371919.4_Frame_Shift_Del_p.DS412fs			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	426					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					AGGTCTTTGACTCTCTGCGCTT	0.584													8	93	---	---	---	---					-	47283812	CT	-	47283811	7	5	36	1	0	1	0	1	0	0	0	0	4217	564	20	0	1323	0	CYP4B1	1	47283811	Frame_Shift_Del	DEL	CT	TCGA-BB-4217-01A-11D-2078-08		47283811	201966810	1	6923											
CD5L	922	broad.mit.edu	37	chr1	157804318	157804318	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctggctcagccagatgggTtttcggccataggcatgctt	7	12	12	10	1	2	1	1	0	1	1	3	1	2	1	2	4	2	4	2	4	1	4			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr1:157804318T>G	ENST00000368174.4	-	4	693	c.597A>C	c.(595-597)aaA>aaC	p.K199N		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	199	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.K199K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCAGATGGGTTTTCGGCCAT	0.582													6	49					0	0	0	0	G	157804318	T	G	157804318	3	3	36	1	0	0	0	0	1	0	0	0	3056	1722	60	5	458	5	CD5L	1	157804318	Missense_Mutation	SNP	T	TCGA-BB-4217-01A-11D-2078-08	110520507	157804318	91446303	2	6924											
LTBP1	4052	broad.mit.edu	37	chr2	33567941	33567941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaacactgtttgtgacaGtcacgggttttgtgacaata	13	12	9	7	1	1	2	1	2	0	0	1	2	1	2	0	1	2	2	0	1	4	4			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr2:33567941G>A	ENST00000404816.2	+	25	4120	c.3767G>A	c.(3766-3768)aGt>aAt	p.S1256N	LTBP1_ENST00000407925.1_Missense_Mutation_p.S930N|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000404525.1_Missense_Mutation_p.S877N|LTBP1_ENST00000402934.1_Missense_Mutation_p.S877N|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.S1257N|LTBP1_ENST00000390003.4_Missense_Mutation_p.S931N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1256	EGF-like 13; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTTTGTGACAGTCACGGGTTT	0.443													7	50					0	0	0	0	A	33567941	G	A	33567941	3	1	36	1	0	0	0	0	1	0	0	0	9137	1029	36	4	3920	4	LTBP1	2	33567941	Missense_Mutation	SNP	G	TCGA-BB-4217-01A-11D-2078-08		33567941	209631432	3	6925											
ETAA1	54465	broad.mit.edu	37	chr2	67626364	67626364	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcttccttcagttctcCtaatgatccagatggacaga	10	13	7	11	0	4	3	2	1	2	2	7	4	6	4	3	1	0	1	3	1	1	4			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr2:67626364C>G	ENST00000272342.5	+	2	417	c.287C>G	c.(286-288)cCt>cGt	p.P96R		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	96						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTCAGTTCTCCTAATGATCCA	0.318													5	40					0	0	0	0	G	67626364	C	G	67626364	3	3	36	1	0	0	0	0	1	0	0	0	5305	681	24	4	293	4	ETAA1	2	67626364	Missense_Mutation	SNP	C	TCGA-BB-4217-01A-11D-2078-08	34058423	67626364	175573009	4	6926											
ANKRD39	51239	broad.mit.edu	37	chr2	97514153	97514153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttgcaggaggagggagCagatgtccccgtgacccctc	7	8	15	11	1	0	2	0	1	0	1	2	5	1	5	4	3	2	3	4	3	0	1			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr2:97514153C>T	ENST00000393537.4	-	4	544	c.437G>A	c.(436-438)tGc>tAc	p.C146Y		NM_016466.5	NP_057550.3	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39	146										NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	6						GAGGAGGGAGCAGATGTCCCC	0.607													8	49					0	0	0	0	T	97514153	C	T	97514153	3	4	36	1	0	0	0	0	1	0	0	0	667	710	25	4	118	4	ANKRD39	2	97514153	Missense_Mutation	SNP	C	TCGA-BB-4217-01A-11D-2078-08	29887789	97514153	145685220	5	6927											
CCDC148	130940	broad.mit.edu	37	chr2	159170404	159170404	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcttcacttagttgacagTttctagaagcaacaaaaatg	14	13	6	8	0	3	2	1	1	2	1	3	2	3	2	0	0	2	3	0	0	6	6			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr2:159170404T>C	ENST00000283233.5	-	8	1080	c.767A>G	c.(766-768)aAc>aGc	p.N256S	CCDC148_ENST00000409187.1_Missense_Mutation_p.N265S|CCDC148_ENST00000536771.1_Missense_Mutation_p.N170S	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	256										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TAGTTGACAGTTTCTAGAAGC	0.388													4	55					0	0	0	0	C	159170404	T	C	159170404	3	2	36	1	0	0	0	0	1	0	0	0	2807	1725	60	5	1088	5	CCDC148	2	159170404	Missense_Mutation	SNP	T	TCGA-BB-4217-01A-11D-2078-08	61656251	159170404	84028969	6	6928											
ABCB6	10058	broad.mit.edu	37	chr2	220078333	220078333	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtagtaggtgccaaaccaaTtgaggggcatgtacagctgg	11	9	14	7	0	0	1	0	1	0	0	0	1	0	1	2	4	4	5	2	4	5	4			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr2:220078333T>C	ENST00000265316.3	-	10	1950	c.1634A>G	c.(1633-1635)aAt>aGt	p.N545S	ABCB6_ENST00000439002.2_Missense_Mutation_p.N499S	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	545	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCAAACCAATTGAGGGGCAT	0.532													4	76					0	0	0	0	C	220078333	T	C	220078333	3	2	36	1	0	0	0	0	1	0	0	0	45	1493	52	5	934	5	ABCB6	2	220078333	Missense_Mutation	SNP	T	TCGA-BB-4217-01A-11D-2078-08	60907929	220078333	23121040	7	6929											
IL5RA	3568	broad.mit.edu	37	chr3	3139681	3139681	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctgggaaaccagcatgcGatatttctccccagtgtgtc	8	11	10	12	1	1	0	0	0	1	0	4	2	2	1	4	1	3	1	4	1	2	2			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr3:3139681G>A	ENST00000446632.2	-	7	1156	c.582C>T	c.(580-582)atC>atT	p.I194I	IL5RA_ENST00000311981.8_Silent_p.I194I|IL5RA_ENST00000456302.1_Silent_p.I194I|IL5RA_ENST00000438560.1_Silent_p.I194I|IL5RA_ENST00000383846.1_Silent_p.I194I|IL5RA_ENST00000256452.3_Silent_p.I194I|IL5RA_ENST00000430514.2_Silent_p.I194I|IL5RA_ENST00000418488.2_Silent_p.I194I|IL5RA_ENST00000445864.2_Intron	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	194					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ACCAGCATGCGATATTTCTCC	0.483													5	74					0	0	0	0	A	3139681	G	A	3139681	2	1	36	1	0	0	0	0	0	0	0	1	7753	1048	37	1		1	IL5RA	3	3139681	Silent	SNP	G	TCGA-BB-4217-01A-11D-2078-08		3139681	194882749	8	6930											
WDR82	80335	broad.mit.edu	37	chr3	52304734	52304734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggcttgcttaccgtctaTtttgttagagctgtaaacaa	12	14	8	7	1	1	1	0	0	1	1	1	1	1	1	1	1	4	5	1	1	7	7			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr3:52304734T>C	ENST00000296490.3	-	2	534	c.253A>G	c.(253-255)Ata>Gta	p.I85V		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	85					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TTACCGTCTATTTTGTTAGAG	0.378													14	128					0	0	0	0	C	52304734	T	C	52304734	3	2	36	1	0	0	0	0	1	0	0	0	17427	1493	52	5	720	5	WDR82	3	52304734	Missense_Mutation	SNP	T	TCGA-BB-4217-01A-11D-2078-08	49165053	52304734	145717696	9	6931											
PBRM1	55193	broad.mit.edu	37	chr3	52643860	52643860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaatatggcactgaggCggcgacccctcttatcagta	11	9	10	11	2	3	2	2	1	1	1	3	3	3	2	2	3	0	2	2	3	4	3			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr3:52643860C>T	ENST00000356770.4	-	15	1942	c.1940G>A	c.(1939-1941)cGc>cAc	p.R647H	PBRM1_ENST00000296302.7_Missense_Mutation_p.R679H|PBRM1_ENST00000337303.4_Missense_Mutation_p.R679H|PBRM1_ENST00000394830.3_Missense_Mutation_p.R679H|PBRM1_ENST00000409057.1_Missense_Mutation_p.R679H|PBRM1_ENST00000409767.1_Missense_Mutation_p.R694H|PBRM1_ENST00000409114.3_Missense_Mutation_p.R694H|PBRM1_ENST00000410007.1_Missense_Mutation_p.R679H			Q86U86	PB1_HUMAN	polybromo 1	679					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.R678_R679delRR(2)|p.R646_R647delRR(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGCACTGAGGCGGCGACCCCT	0.413			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								12	87					0	0	0	0	T	52643860	C	T	52643860	3	4	36	1	0	0	0	0	1	0	0	0	11562	768	27	1	2924	1	PBRM1	3	52643860	Missense_Mutation	SNP	C	TCGA-BB-4217-01A-11D-2078-08	339126	52643860	145378570	10	6932											
KPNA4	3840	broad.mit.edu	37	chr3	160227623	160227623	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaattgttaagttacttaTggcccaagcagcttcttttt	10	17	6	8	0	1	0	0	0	1	0	1	0	1	0	1	1	3	4	1	1	5	8			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr3:160227623T>A	ENST00000334256.4	-	14	1479	c.1174A>T	c.(1174-1176)Ata>Tta	p.I392L		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	392	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AAGTTACTTATGGCCCAAGCA	0.318													24	115					0	0	0	0	A	160227623	T	A	160227623	3	1	36	1	0	0	0	0	1	0	0	0	8484	1464	51	5	407	5	KPNA4	3	160227623	Missense_Mutation	SNP	T	TCGA-BB-4217-01A-11D-2078-08	107583763	160227623	37794807	11	6933											
ST6GAL1	6480	broad.mit.edu	37	chr3	186760908	186760908	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaagttcagtgcagaggcCctgcgctgccacctccggga	8	7	12	14	2	2	1	2	0	0	1	3	2	3	2	4	2	3	3	4	2	1	1			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr3:186760908C>T	ENST00000169298.3	+	4	1091	c.417C>T	c.(415-417)gcC>gcT	p.A139A	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Silent_p.A139A	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	139					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTGCAGAGGCCCTGCGCTGCC	0.507													6	47					0	0	0	0	T	186760908	C	T	186760908	2	4	36	1	0	0	0	0	0	0	0	1	15311	610	22	4		4	ST6GAL1	3	186760908	Silent	SNP	C	TCGA-BB-4217-01A-11D-2078-08	26533285	186760908	11261522	12	6934											
GABRA2	2555	broad.mit.edu	37	chr4	46307679	46307679	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaacctgtactgaatcAgatgcattgtaagtccaaat	14	10	9	8	0	1	2	1	1	0	1	2	3	2	3	2	1	4	4	2	1	5	3			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr4:46307679A>G	ENST00000510861.1	-	7	782	c.609T>C	c.(607-609)tcT>tcC	p.S203S	GABRA2_ENST00000540012.1_Silent_p.S148S|GABRA2_ENST00000507069.1_Silent_p.S203S|GABRA2_ENST00000356504.1_Silent_p.S203S|GABRA2_ENST00000514090.1_Silent_p.S203S|GABRA2_ENST00000381620.4_Silent_p.S203S|GABRA2_ENST00000515082.1_Silent_p.S203S			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	203					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTACTGAATCAGATGCATTGT	0.358													4	49					0	0	0	0	G	46307679	A	G	46307679	2	3	36	1	0	0	0	0	0	0	0	1	6209	175	7	5		5	GABRA2	4	46307679	Silent	SNP	A	TCGA-BB-4217-01A-11D-2078-08		46307679	144846597	13	6935											
TBC1D9	23158	broad.mit.edu	37	chr4	141591969	141591969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgagatcctctgcactaGaaagtctctatctttcaagt	11	14	6	10	0	5	2	1	1	4	2	7	3	6	2	1	0	1	1	1	0	4	3			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr4:141591969G>C	ENST00000442267.2	-	7	1245	c.1171C>G	c.(1171-1173)Cta>Gta	p.L391V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	391						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCTGCACTAGAAAGTCTCTA	0.453													5	86					0	0	0	0	C	141591969	G	C	141591969	3	2	36	1	0	0	0	0	1	0	0	0	15721	933	33	2	2689	2	TBC1D9	4	141591969	Missense_Mutation	SNP	G	TCGA-BB-4217-01A-11D-2078-08	95284290	141591969	49562307	14	6936											
NPY2R	4887	broad.mit.edu	37	chr4	156135481	156135481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtgccctatgcccaGggcctggcagtacaagtatc	8	8	11	14	0	0	0	0	0	0	0	1	0	0	0	4	3	3	3	4	3	4	3			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr4:156135481G>T	ENST00000329476.3	+	2	879	c.390G>T	c.(388-390)caG>caT	p.Q130H	NPY2R_ENST00000506608.1_Missense_Mutation_p.Q130H	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	130					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCTATGCCCAGGGCCTGGCAG	0.522													8	56					0.0381472	0.041746	1	0	T	156135481	G	T	156135481	3	4	36	1	0	0	0	0	1	0	0	0	10680	991	35	4	392	4	NPY2R	4	156135481	Missense_Mutation	SNP	G	TCGA-BB-4217-01A-11D-2078-08	14543512	156135481	35018795	15	6937											
TERT	7015	broad.mit.edu	37	chr5	1272370	1272370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacgaactgtcgcatgtacGgctggaggtctgtcaaggta	9	9	13	10	3	2	0	1	0	1	0	3	2	2	1	1	4	2	4	1	4	4	2			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:1272370G>A	ENST00000310581.5	-	7	2369	c.2312C>T	c.(2311-2313)cCg>cTg	p.P771L	TERT_ENST00000334602.6_Missense_Mutation_p.P771L|TERT_ENST00000508104.2_Intron|TERT_ENST00000296820.5_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	771	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|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)			TCGCATGTACGGCTGGAGGTC	0.632									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				3	12					0	0	0	0	A	1272370	G	A	1272370	3	1	36	1	0	0	0	0	1	0	0	0	15858	1116	39	1	1126	1	TERT	5	1272370	Missense_Mutation	SNP	G	TCGA-BB-4217-01A-11D-2078-08		1272370	179642890	16	6938											
DNAH5	1767	broad.mit.edu	37	chr5	13814775	13814775	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccattccatttcttgagAcggtggcaggagaagcattg	12	10	11	8	1	1	2	0	1	1	2	2	4	2	2	2	3	2	2	2	3	2	4			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:13814775A>C	ENST00000265104.4	-	43	7273	c.7169T>G	c.(7168-7170)gTc>gGc	p.V2390G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2390	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					atttcttgagacggtggcagg	0.393									Kartagener syndrome				6	64					0	0	0	0	C	13814775	A	C	13814775	3	2	36	1	0	0	0	0	1	0	0	0	4641	275	10	5	6853	5	DNAH5	5	13814775	Missense_Mutation	SNP	A	TCGA-BB-4217-01A-11D-2078-08	12542405	13814775	167100485	17	6939											
NIPBL	25836	broad.mit.edu	37	chr5	36985988	36985988	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacaaggagattctaataaAtcaagatctgataaacttgg	19	10	7	5	0	3	3	1	1	2	2	3	4	3	3	0	2	2	0	0	2	8	5			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:36985988A>G	ENST00000282516.8	+	10	3205	c.2706A>G	c.(2704-2706)aaA>aaG	p.K902K	NIPBL_ENST00000448238.2_Silent_p.K902K|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	902					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTCTAATAAATCAAGATCTG	0.393													5	52					0	0	0	0	G	36985988	A	G	36985988	2	3	36	1	0	0	0	0	0	0	0	1	10498	98	4	5		5	NIPBL	5	36985988	Silent	SNP	A	TCGA-BB-4217-01A-11D-2078-08	23171213	36985988	143929272	18	6940											
ARL15	54622	broad.mit.edu	37	chr5	53182535	53182535	+	Frame_Shift_Del	DEL	T	T	-																															agtggttcaagttcaaaataTtttttgatcttaagaggaaa																										TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:53182535delT	ENST00000504924.1	-	5	564	c.471delA	c.(469-471)aafs	p.K157fs	ARL15_ENST00000502271.1_5'UTR|ARL15_ENST00000510591.2_5'UTR	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	157							GTP binding			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				GTTCAAAATATTTTTTGATCT	0.363													2	4	---	---	---	---					-	53182535	T	-	53182535	7	5	36	1	0	1	0	1	0	0	0	0	933	1490	52	0	147	0	ARL15	5	53182535	Frame_Shift_Del	DEL	T	TCGA-BB-4217-01A-11D-2078-08	16196547	53182535	127732725	19	6941											
ZNF366	167465	broad.mit.edu	37	chr5	71739939	71739939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggctgtagggctccacctCgtagcagttatcctcctctt	6	12	10	13	1	1	0	0	0	1	0	5	0	4	0	4	2	1	6	4	2	3	4			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:71739939C>T	ENST00000318442.5	-	5	2369	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGCTCCACCTCGTAGCAGTTA	0.667													7	120					0	0	0	0	T	71739939	C	T	71739939	3	4	36	1	0	0	0	0	1	0	0	0	17965	893	31	1	359	1	ZNF366	5	71739939	Missense_Mutation	SNP	C	TCGA-BB-4217-01A-11D-2078-08	18557404	71739939	109175321	20	6942											
PCDHA3	56145	broad.mit.edu	37	chr5	140182956	140182956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgctctgcggtgctccgCgccgccaaccgaaggcgact	6	7	12	16	6	1	0	0	0	1	0	2	2	2	0	4	2	5	2	4	2	3	1			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:140182956C>A	ENST00000522353.2	+	1	2174	c.2174C>A	c.(2173-2175)gCg>gAg	p.A725E	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A725E	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGCTCCGCGCCGCCAACC	0.637													7	104					0.0381472	0.041746	1	0	A	140182956	C	A	140182956	3	1	36	1	0	0	0	0	1	0	0	0	11596	768	27	3	2176	3	PCDHA3	5	140182956	Missense_Mutation	SNP	C	TCGA-BB-4217-01A-11D-2078-08	68443017	140182956	40732304	21	6943											
COL9A1	1297	broad.mit.edu	37	chr6	71009773	71009773	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatcctgaagtctacattaTttcccaacttgtaagccacc	12	12	5	12	0	1	1	0	1	1	0	3	2	3	1	4	0	3	1	4	0	6	5			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr6:71009773T>C	ENST00000357250.6	-	4	430	c.272A>G	c.(271-273)aAt>aGt	p.N91S	COL9A1_ENST00000370496.3_Missense_Mutation_p.N91S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	91	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GTCTACATTATTTCCCAACTT	0.363													7	43					0	0	0	0	C	71009773	T	C	71009773	3	2	36	1	0	0	0	0	1	0	0	0	3737	1493	52	5	2709	5	COL9A1	6	71009773	Missense_Mutation	SNP	T	TCGA-BB-4217-01A-11D-2078-08		71009773	100105294	22	6944											
CARD11	84433	broad.mit.edu	37	chr7	2984095	2984095	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgcagcgttgcaggtcCttggccttcatctgctgctg	4	12	12	13	2	2	0	1	0	1	0	4	0	3	0	2	2	5	6	2	2	0	3			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr7:2984095C>T	ENST00000396946.4	-	5	838	c.435G>A	c.(433-435)aaG>aaA	p.K145K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	145					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTTGCAGGTCCTTGGCCTTCA	0.617			Mis		DLBCL								7	72					0	0	0	0	T	2984095	C	T	2984095	2	4	36	1	0	0	0	0	0	0	0	1	2670	680	24	4		4	CARD11	7	2984095	Silent	SNP	C	TCGA-BB-4217-01A-11D-2078-08		2984095	156154568	23	6945											
SDK1	221935	broad.mit.edu	37	chr7	4218155	4218155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatgaagtaataatgaccGcctataacatcatcggcgag	14	9	9	9	3	1	2	1	2	0	0	2	3	1	2	2	1	1	2	2	1	6	5	rs141831391	byFrequency	TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr7:4218155G>A	ENST00000404826.2	+	35	5174	c.5035G>A	c.(5035-5037)Gcc>Acc	p.A1679T	SDK1_ENST00000389531.3_Missense_Mutation_p.A1659T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1679	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AATAATGACCGCCTATAACAT	0.547													6	121					0	0	0	0	A	4218155	G	A	4218155	3	1	36	1	0	0	0	0	1	0	0	0	14055	1087	38	1	5173	1	SDK1	7	4218155	Missense_Mutation	SNP	G	TCGA-BB-4217-01A-11D-2078-08	1234060	4218155	154920508	24	6946											
TMEM38B	55151	broad.mit.edu	37	chr9	108484899	108484900	+	Frame_Shift_Ins	INS	-	-	A																															gatgaatggctgaagatgtcINSatagtaagttggtataaatt																										TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr9:108484899_108484900insA	ENST00000374688.1	+	4	1087_1088	c.377_378insA	c.(376-378)ttafs	p.L126fs	TMEM38B_ENST00000374692.3_Frame_Shift_Ins_p.L180fs			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	180						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CTGAAGATGTCATAGTAAGTTG	0.342													8	69	---	---	---	---					A	108484900	-	A	108484899	7	5	36	1	0	1	1	0	0	0	0	0	16254	838	29	0	553	0	TMEM38B	9	108484899	Frame_Shift_Ins	INS	-	TCGA-BB-4217-01A-11D-2078-08		108484899	32728532	25	6947											
ZBTB34	403341	broad.mit.edu	37	chr9	129642399	129642399	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcaccgaggtgaaagtgAagatggagaagtccgaccgg	14	5	15	7	3	1	5	1	2	0	3	2	8	2	5	3	3	0	0	3	3	3	0			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr9:129642399A>C	ENST00000319119.4	+	2	806	c.721A>C	c.(721-723)Aag>Cag	p.K241Q	ZBTB34_ENST00000373452.2_Missense_Mutation_p.K237Q	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GGTGAAAGTGAAGATGGAGAA	0.547													6	67					0	0	0	0	C	129642399	A	C	129642399	3	2	36	1	0	0	0	0	1	0	0	0	17632	247	9	5	711	5	ZBTB34	9	129642399	Missense_Mutation	SNP	A	TCGA-BB-4217-01A-11D-2078-08	21157500	129642399	11571032	26	6948											
TTF1	7270	broad.mit.edu	37	chr9	135277018	135277018	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagacactcgtgcccttttGacagacgtaagcttcctttt	8	13	7	13	2	0	3	0	1	0	2	2	3	1	3	3	0	2	2	3	0	1	6			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr9:135277018G>A	ENST00000334270.2	-	2	1230	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	397					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GTGCCCTTTTGACAGACGTAA	0.463													8	100					0	0	0	0	A	135277018	G	A	135277018	2	1	36	1	0	0	0	0	0	0	0	1	16814	1277	45	2		2	TTF1	9	135277018	Silent	SNP	G	TCGA-BB-4217-01A-11D-2078-08	5634619	135277018	5936413	27	6949											
GDI2	2665	broad.mit.edu	37	chr10	5827219	5827219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctattaatggtttcataaCacggttgatctaagtaactg	12	16	7	6	1	3	1	1	1	2	0	3	1	3	1	0	2	2	3	0	2	5	8			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr10:5827219C>T	ENST00000380191.4	-	6	895	c.605G>A	c.(604-606)tGt>tAt	p.C202Y	GDI2_ENST00000380181.3_Missense_Mutation_p.C157Y|GDI2_ENST00000380132.4_Missense_Mutation_p.C206Y	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	202					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						GGTTTCATAACACGGTTGATC	0.348													6	87					0	0	0	0	T	5827219	C	T	5827219	3	4	36	1	0	0	0	0	1	0	0	0	6372	478	17	4	756	4	GDI2	10	5827219	Missense_Mutation	SNP	C	TCGA-BB-4217-01A-11D-2078-08		5827219	129707528	28	6950											
HECTD2	143279	broad.mit.edu	37	chr10	93185163	93185163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttttccctaacatcaaGaatggtaaataatttttaaa	15	16	4	6	0	1	1	1	0	0	1	2	1	2	1	1	1	1	2	1	1	8	9			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr10:93185163G>T	ENST00000446394.1	+	2	364	c.264G>T	c.(262-264)aaG>aaT	p.K88N	HECTD2_ENST00000371681.4_Missense_Mutation_p.K88N|HECTD2_ENST00000298068.5_Missense_Mutation_p.K88N			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	88					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CTAACATCAAGAATGGtaaat	0.294													4	16					0.00024832	0.000288051	1	0	T	93185163	G	T	93185163	3	4	36	1	0	0	0	0	1	0	0	0	7090	933	33	2	270	2	HECTD2	10	93185163	Missense_Mutation	SNP	G	TCGA-BB-4217-01A-11D-2078-08	87357944	93185163	42349584	29	6951											
C11orf48	79081	broad.mit.edu	37	chr11	62435132	62435134	+	In_Frame_Del	DEL	TCT	TCT	-																															cctcaagaatccaacaagcaTcttcttcatcctggtcctgc																										TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr11:62435132_62435134delTCT	ENST00000431002.2	-	2	2210_2212	c.477_479delAGA	c.(475-480)gat>ga	p.ED159del	C11orf48_ENST00000532208.1_In_Frame_Del_p.ED133del|METTL12_ENST00000532971.1_3'UTR|C11orf48_ENST00000354588.3_In_Frame_Del_p.ED133del			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	159										endometrium(1)|lung(5)|urinary_tract(1)	7						CCAACAAGCATCTTCTTCATCCT	0.537													15	266	---	---	---	---					-	62435134	TCT	-	62435132	7	5	36	1	0	1	0	1	0	0	0	0	1655	1435	50	0	406	0	C11orf48	11	62435132	In_Frame_Del	DEL	TCT	TCGA-BB-4217-01A-11D-2078-08		62435132	72571384	30	6952											
CWF19L2	143884	broad.mit.edu	37	chr11	107207333	107207333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccttgggaagaggaataCattcataaaccatgtgatac	14	11	8	8	0	1	2	1	1	0	1	2	4	2	4	2	2	3	0	2	2	6	6			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr11:107207333C>A	ENST00000282251.5	-	15	2336	c.2309G>T	c.(2308-2310)tGt>tTt	p.C770F		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	770							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AAGAGGAATACATTCATAAAC	0.328													4	23					0.00024832	0.000288051	1	0	A	107207333	C	A	107207333	3	1	36	1	0	0	0	0	1	0	0	0	4104	478	17	4	391	4	CWF19L2	11	107207333	Missense_Mutation	SNP	C	TCGA-BB-4217-01A-11D-2078-08	44772201	107207333	27799183	31	6953											
TAS2R30	259293	broad.mit.edu	37	chr12	11286073	11286073	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaacatgaagacaggttgCttttccagcctcccaaaatt	13	10	7	11	0	0	3	0	1	0	2	2	3	2	3	3	1	3	2	3	1	4	4			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr12:11286073C>A	ENST00000539585.1	-	1	1170	c.771G>T	c.(769-771)aaG>aaT	p.K257N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AGACAGGTTGCTTTTCCAGCC	0.388													7	133					0.00198382	0.00225611	1	0	A	11286073	C	A	11286073	3	1	36	1	0	0	0	0	1	0	0	0	15664	796	28	4	192	4	TAS2R30	12	11286073	Missense_Mutation	SNP	C	TCGA-BB-4217-01A-11D-2078-08		11286073	122565822	32	6954											
MGAT4C	25834	broad.mit.edu	37	chr12	86373569	86373569	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgatgaataatagcccAtgtgctgaaagagagatggt	14	11	12	4	0	0	5	0	3	0	2	0	6	0	5	1	1	2	2	1	1	5	3			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr12:86373569A>G	ENST00000604798.1	-	8	2139	c.935T>C	c.(934-936)aTg>aCg	p.M312T	MGAT4C_ENST00000549405.2_Missense_Mutation_p.M312T|MGAT4C_ENST00000332156.1_Missense_Mutation_p.M312T|MGAT4C_ENST00000548651.1_Missense_Mutation_p.M312T|MGAT4C_ENST00000552435.2_Silent_p.H100H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.M312T|MGAT4C_ENST00000393205.2_Missense_Mutation_p.M341T			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	312					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATAATAGCCCATGTGCTGAAA	0.408													10	69					0	0	0	0	G	86373569	A	G	86373569	3	3	36	1	0	0	0	0	1	0	0	0	9616	217	8	5	505	5	MGAT4C	12	86373569	Missense_Mutation	SNP	A	TCGA-BB-4217-01A-11D-2078-08	75087496	86373569	47478326	33	6955											
RNF6	6049	broad.mit.edu	37	chr13	26788214	26788214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggttaaaccacgtattCgatcatcatcatcactttca	11	15	4	11	2	5	0	5	0	0	0	6	1	5	0	1	1	1	2	1	1	3	5			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr13:26788214C>A	ENST00000381588.4	-	5	2557	c.1805G>T	c.(1804-1806)cGa>cTa	p.R602L	RNF6_ENST00000381570.3_Missense_Mutation_p.R602L|RNF6_ENST00000346166.3_Missense_Mutation_p.R602L|RNF6_ENST00000399762.2_Missense_Mutation_p.R246L|RNF6_ENST00000468480.1_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	602					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ACCACGTATTCGATCATCATC	0.373													8	107					1.12685e-05	1.39058e-05	1	0	A	26788214	C	A	26788214	3	1	36	1	0	0	0	0	1	0	0	0	13583	884	31	3	256	3	RNF6	13	26788214	Missense_Mutation	SNP	C	TCGA-BB-4217-01A-11D-2078-08		26788214	88381664	34	6956											
EPSTI1	94240	broad.mit.edu	37	chr13	43500540	43500540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctggcgattctgtgttcaGtttgctcaagaactcagcgg	7	13	12	9	2	5	1	3	0	2	1	5	2	5	1	0	2	3	3	0	2	2	3			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr13:43500540G>T	ENST00000313640.7	-	7	653	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	EPSTI1_ENST00000313624.7_Missense_Mutation_p.L197M|EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000398762.3_Missense_Mutation_p.L197M	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	197										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TCTGTGTTCAGTTTGCTCAAG	0.428													8	132					1.12685e-05	1.39058e-05	1	0	T	43500540	G	T	43500540	3	4	36	1	0	0	0	0	1	0	0	0	5236	1020	36	4	671	4	EPSTI1	13	43500540	Missense_Mutation	SNP	G	TCGA-BB-4217-01A-11D-2078-08	16712326	43500540	71669338	35	6957											
PRKD1	5587	broad.mit.edu	37	chr14	30100144	30100144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatttgccgtagtgatttcGaaacaatgaggattggcccc	11	11	10	9	2	0	2	0	2	0	0	1	4	0	3	3	2	2	1	3	2	3	4			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr14:30100144G>A	ENST00000331968.5	-	10	1705	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	PRKD1_ENST00000415220.2_Silent_p.F500F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	492	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TAGTGATTTCGAAACAATGAG	0.398													17	75					0	0	0	0	A	30100144	G	A	30100144	2	1	36	1	0	0	0	0	0	0	0	1	12598	1049	37	1		1	PRKD1	14	30100144	Silent	SNP	G	TCGA-BB-4217-01A-11D-2078-08		30100144	77249396	36	6958											
PMFBP1	83449	broad.mit.edu	37	chr16	72159281	72159281	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctttgctgcaggctcttTgtctctgaggtcacgtgatt	6	15	11	9	1	3	2	1	2	2	0	4	2	3	2	0	2	3	4	0	2	1	3			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr16:72159281T>G	ENST00000537465.1	-	16	2450	c.2292A>C	c.(2290-2292)acA>acC	p.T764T	PMFBP1_ENST00000237353.10_Silent_p.T759T|PMFBP1_ENST00000355636.6_Silent_p.T614T			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	764										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)				GCAGGCTCTTTGTCTCTGAGG	0.483											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	181					0	0	0	0	G	72159281	T	G	72159281	2	3	36	1	0	0	0	0	0	0	0	1	12206	1799	63	5		5	PMFBP1	16	72159281	Silent	SNP	T	TCGA-BB-4217-01A-11D-2078-08		72159281	18195472	37	6959											
CNTNAP4	85445	broad.mit.edu	37	chr16	76556036	76556036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaaccagtggcaccatgtGagggttgaaaggaacatgaa	15	6	13	7	0	0	3	0	3	0	0	0	5	0	4	2	3	2	2	2	3	4	1			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr16:76556036G>A	ENST00000307431.8	+	18	3019	c.2634G>A	c.(2632-2634)gtG>gtA	p.V878V	CNTNAP4_ENST00000476707.1_Silent_p.V882V|CNTNAP4_ENST00000478060.1_Silent_p.V806V|CNTNAP4_ENST00000377504.4_Silent_p.V830V|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	879	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGCACCATGTGAGGGTTGAAA	0.527													11	102					0	0	0	0	A	76556036	G	A	76556036	2	1	36	1	0	0	0	0	0	0	0	1	3679	1277	45	2		2	CNTNAP4	16	76556036	Silent	SNP	G	TCGA-BB-4217-01A-11D-2078-08	4396755	76556036	13798717	38	6960											
NMT1	4836	broad.mit.edu	37	chr17	43182277	43182277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatggagaacaaaaccttCctggagaagctcaagtttgg	13	9	10	9	0	2	2	2	0	0	2	3	4	3	2	2	3	3	2	2	3	5	2			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr17:43182277C>A	ENST00000592782.1	+	12	1514	c.1383C>A	c.(1381-1383)ttC>ttA	p.F461L	NMT1_ENST00000258960.2_Missense_Mutation_p.F461L			P30419	NMT1_HUMAN	N-myristoyltransferase 1	461					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				ACAAAACCTTCCTGGAGAAGC	0.502													3	38					0.115264	0.119381	1	0	A	43182277	C	A	43182277	3	1	36	1	0	0	0	0	1	0	0	0	10573	854	30	2	1425	2	NMT1	17	43182277	Missense_Mutation	SNP	C	TCGA-BB-4217-01A-11D-2078-08		43182277	38012933	39	6961											
PGLYRP2	114770	broad.mit.edu	37	chr19	15587145	15587145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtcgagccatcaggtgcCagcaccaccccatattcctt	9	8	8	16	2	1	0	1	0	0	0	3	1	2	0	6	2	3	1	6	2	1	3			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr19:15587145C>T	ENST00000292609.4	-	2	465	c.336G>A	c.(334-336)ctG>ctA	p.L112L	PGLYRP2_ENST00000340880.4_Silent_p.L112L			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	112					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CATCAGGTGCCAGCACCACCC	0.617													11	91					0	0	0	0	T	15587145	C	T	15587145	2	4	36	1	0	0	0	0	0	0	0	1	11866	581	21	4		4	PGLYRP2	19	15587145	Silent	SNP	C	TCGA-BB-4217-01A-11D-2078-08		15587145	43541838	40	6962											
CYP2D6	1565	broad.mit.edu	37	chr22	42525788	42525788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggtgatgggcacaggcgGgcggtcggcggtgtcctcgc	3	7	20	11	5	0	1	0	1	0	0	3	1	1	1	1	7	0	1	1	7	0	0			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr22:42525788G>A	ENST00000360608.5	-	2	418	c.304C>T	c.(304-306)Ccg>Tcg	p.P102S	CYP2D6_ENST00000359033.4_Missense_Mutation_p.P102S|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.P102S	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	102							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGCACAGGCGGGCGGTCGGCG	0.697													3	29					0	0	0	0	A	42525788	G	A	42525788	3	1	36	1	0	0	0	0	1	0	0	0	4201	1232	43	4	1221	4	CYP2D6	22	42525788	Missense_Mutation	SNP	G	TCGA-BB-4217-01A-11D-2078-08		42525788	8778778	41	6963											
PRKCZ	5590	broad.mit.edu	37	chr1	2080336	2080336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatttcctcatcccggaaGcatgacagcattaaagacga	14	9	7	11	2	1	2	1	1	0	1	3	4	3	3	2	1	3	2	2	1	4	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:2080336G>T	ENST00000400921.2	+	5	794	c.111G>T	c.(109-111)aaG>aaT	p.K37N	PRKCZ_ENST00000400920.1_Missense_Mutation_p.K37N|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	220	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CATCCCGGAAGCATGACAGCA	0.562													26	52					1.32181e-22	1.39558e-22	1	0	T	2080336	G	T	2080336	3	4	37	1	0	0	0	0	1	0	0	0	12597	962	34	4	690	4	PRKCZ	1	2080336	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08		2080336	247170285	1	6964											
CASZ1	54897	broad.mit.edu	37	chr1	10715871	10715871	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgcttactcgtgaacctCtgccaggagacagcgccacg	8	8	10	15	3	1	2	0	1	1	1	3	3	2	2	4	1	5	1	4	1	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:10715871C>T	ENST00000377022.3	-	9	1818		c.e9-1		CASZ1_ENST00000344008.5_Splice_Site	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCGTGAACCTCTGCCAGGAGA	0.632													4	85					0	0	0	0	T	10715871	C	T	10715871	5	4	37	1	0	0	0	0	0	0	1	0	2710	927	32	2	3835	2	CASZ1	1	10715871	Splice_Site	SNP	C	TCGA-BB-4223-01A-01D-1434-08	8635535	10715871	238534750	2	6965											
CLCN6	1185	broad.mit.edu	37	chr1	11896103	11896103	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtctctggtgagcatcCtgcgcaccacggtccaccat	7	9	9	16	2	1	1	0	1	1	0	5	1	4	1	5	2	2	2	5	2	0	0	rs7412854		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:11896103C>T	ENST00000346436.6	+	18	1925	c.1873C>T	c.(1873-1875)Ctg>Ttg	p.L625L	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.L603L|CLCN6_ENST00000376496.3_Silent_p.L625L	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	625	CBS 1.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGAGCATCCTGCGCACCAC	0.592													3	53					0	0	0	0	T	11896103	C	T	11896103	2	4	37	1	0	0	0	0	0	0	0	1	3497	680	24	4		4	CLCN6	1	11896103	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1180232	11896103	237354518	3	6966											
GMEB1	10691	broad.mit.edu	37	chr1	29029013	29029013	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagggctggaatggaactCagctctcaccgctgctgtca	8	8	13	12	1	3	0	3	0	1	0	4	2	3	2	1	4	3	5	1	4	2	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:29029013C>G	ENST00000373816.1	+	7	800	c.662C>G	c.(661-663)tCa>tGa	p.S221*	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000294409.2_Nonsense_Mutation_p.S231*|GMEB1_ENST00000361872.4_Nonsense_Mutation_p.S221*	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GAATGGAACTCAGCTCTCACC	0.488													5	104					0	0	0	0	G	29029013	C	G	29029013	4	3	37	1	0	0	0	0	0	1	0	0	6538	838	29	2	714	2	GMEB1	1	29029013	Nonsense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	17132910	29029013	220221608	4	6967											
CSMD2	114784	broad.mit.edu	37	chr1	33992840	33992840	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgggcagtgttgatgggtCtcccactgggccggacctct	4	9	14	14	2	2	1	0	1	2	0	3	2	2	2	4	4	0	2	4	4	0	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:33992840C>G	ENST00000373381.4	-	65	10366	c.10190G>C	c.(10189-10191)aGa>aCa	p.R3397T		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3253						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTTGATGGGTCTCCCACTGGG	0.507													4	138					0	0	0	0	G	33992840	C	G	33992840	3	3	37	1	0	0	0	0	1	0	0	0	3977	913	32	2	729	2	CSMD2	1	33992840	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	4963827	33992840	215257781	5	6968											
CLSPN	63967	broad.mit.edu	37	chr1	36226454	36226454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactatggtgatcactgttCatttcagtagtatttgcagt	9	18	8	6	0	3	1	3	1	0	0	3	1	3	1	0	1	2	4	0	1	4	7			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:36226454C>T	ENST00000251195.5	-	8	1164	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	CLSPN_ENST00000520551.1_Missense_Mutation_p.M356I|CLSPN_ENST00000373220.3_Missense_Mutation_p.M356I|CLSPN_ENST00000318121.3_Missense_Mutation_p.M356I			Q9HAW4	CLSPN_HUMAN	claspin	356					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATCACTGTTCATTTCAGTAG	0.383													6	138					0	0	0	0	T	36226454	C	T	36226454	3	4	37	1	0	0	0	0	1	0	0	0	3590	826	29	2	3023	2	CLSPN	1	36226454	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	2233614	36226454	213024167	6	6969											
CLSPN	63967	broad.mit.edu	37	chr1	36226773	36226773	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcatgaatggttttattctCaggcatatgatatggaaggt	12	15	10	4	0	2	2	2	2	1	0	3	3	2	3	0	4	0	2	0	4	5	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:36226773C>G	ENST00000251195.5	-	7	1024	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	CLSPN_ENST00000520551.1_Missense_Mutation_p.E310Q|CLSPN_ENST00000373220.3_Missense_Mutation_p.E310Q|CLSPN_ENST00000318121.3_Missense_Mutation_p.E310Q			Q9HAW4	CLSPN_HUMAN	claspin	310					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTTTATTCTCAGGCATATGA	0.358													8	177					0	0	0	0	G	36226773	C	G	36226773	3	3	37	1	0	0	0	0	1	0	0	0	3590	835	29	2	3167	2	CLSPN	1	36226773	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	319	36226773	213023848	7	6970											
CLSPN	63967	broad.mit.edu	37	chr1	36228043	36228043	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgataactcacttccttcctCaaatgaatggaccccactct	11	12	4	14	0	3	2	2	2	1	0	5	3	5	3	4	1	1	0	4	1	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:36228043C>G	ENST00000251195.5	-	5	880	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	CLSPN_ENST00000520551.1_Missense_Mutation_p.E262Q|CLSPN_ENST00000373220.3_Missense_Mutation_p.E262Q|CLSPN_ENST00000318121.3_Missense_Mutation_p.E262Q			Q9HAW4	CLSPN_HUMAN	claspin	262					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTCCTTCCTCAAATGAATGG	0.388													4	146					0	0	0	0	G	36228043	C	G	36228043	3	3	37	1	0	0	0	0	1	0	0	0	3590	835	29	2	3319	2	CLSPN	1	36228043	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1270	36228043	213022578	8	6971											
PPCS	79717	broad.mit.edu	37	chr1	42925418	42925418	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttggaaatttatcagcatCaagtggtggtggctaatatc	11	14	10	6	0	2	0	2	0	0	0	3	1	2	1	0	4	1	2	0	4	5	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:42925418C>G	ENST00000372561.3	+	3	764	c.757C>G	c.(757-759)Caa>Gaa	p.Q253E	PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000455780.1_Missense_Mutation_p.Q80E|PPCS_ENST00000372562.1_Missense_Mutation_p.Q80E	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	253					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTATCAGCATCAAGTGGTGGT	0.408													6	245					0	0	0	0	G	42925418	C	G	42925418	3	3	37	1	0	0	0	0	1	0	0	0	12376	827	29	2	767	2	PPCS	1	42925418	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	6697375	42925418	206325203	9	6972											
BEST4	266675	broad.mit.edu	37	chr1	45250344	45250344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatgagggccgcagagactCggccgccgtggccacagtgt	8	5	16	12	4	0	2	0	1	0	1	1	4	0	2	4	3	0	1	4	3	1	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:45250344C>T	ENST00000372207.3	-	8	1104	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	369						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CGCAGAGACTCGGCCGCCGTG	0.657													5	27					0	0	0	0	T	45250344	C	T	45250344	3	4	37	1	0	0	0	0	1	0	0	0	1411	893	31	1	324	1	BEST4	1	45250344	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	2324926	45250344	204000277	10	6973											
C1orf168	199920	broad.mit.edu	37	chr1	57258321	57258321	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctgcttgtggttggatgaGaggggtttcccattggccaa	6	12	15	8	1	0	1	0	1	0	1	1	3	1	2	2	5	1	4	2	5	1	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:57258321G>C	ENST00000343433.6	-	2	245	c.165C>G	c.(163-165)ctC>ctG	p.L55L	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	55										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						GGTTGGATGAGAGGGGTTTCC	0.473													5	367					0	0	0	0	C	57258321	G	C	57258321	2	2	37	1	0	0	0	0	0	0	0	1	2031	929	33	2		2	C1orf168	1	57258321	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	12007977	57258321	191992300	11	6974											
USP1	7398	broad.mit.edu	37	chr1	62908868	62908868	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttggcaagttatgaattGatatgcagtttacagtcctt	10	17	8	6	0	1	2	0	2	1	0	2	2	2	2	1	1	2	4	1	1	5	7			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:62908868G>A	ENST00000339950.4	+	5	1250	c.435G>A	c.(433-435)ttG>ttA	p.L145L	USP1_ENST00000371146.1_Silent_p.L145L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	145					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GTTATGAATTGATATGCAGTT	0.358													7	201					0	0	0	0	A	62908868	G	A	62908868	2	1	37	1	0	0	0	0	0	0	0	1	17136	1281	45	2		2	USP1	1	62908868	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	5650547	62908868	186341753	12	6975											
IL23R	149233	broad.mit.edu	37	chr1	67635171	67635171	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttataaaaatggcatcaaaGaaagatttcaaatcacaagg	20	10	6	5	0	3	2	3	0	0	2	3	2	3	2	0	2	0	1	0	2	8	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:67635171G>C	ENST00000347310.5	+	3	388	c.217G>C	c.(217-219)Gaa>Caa	p.E73Q	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.E73Q	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	73					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TGGCATCAAAGAAAGATTTCA	0.343													9	227					0	0	0	0	C	67635171	G	C	67635171	3	2	37	1	0	0	0	0	1	0	0	0	7729	943	33	2	223	2	IL23R	1	67635171	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	4726303	67635171	181615450	13	6976											
LRRC7	57554	broad.mit.edu	37	chr1	70518708	70518708	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccataccatttttgcaataGaccccgtcccagcaaagcaa	13	8	6	14	1	0	1	0	0	0	1	1	1	1	1	5	0	4	3	5	0	5	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:70518708G>C	ENST00000310961.5	+	23	4288		c.e23-1		LRRC7_ENST00000035383.5_Splice_Site|LRRC7_ENST00000415775.2_Splice_Site			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTTTGCAATAGACCCCGTCCC	0.393													8	196					0	0	0	0	C	70518708	G	C	70518708	5	2	37	1	0	0	0	0	0	0	1	0	9084	956	33	2	4078	2	LRRC7	1	70518708	Splice_Site	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2883537	70518708	178731913	14	6977											
ACADM	34	broad.mit.edu	37	chr1	76215195	76215195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaatgttttaattggtgacgGagctggtttcaaagttgcaa	12	14	11	4	1	1	1	1	1	0	0	1	2	1	2	0	3	2	5	0	3	4	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:76215195G>A	ENST00000370841.4	+	9	1237	c.800G>A	c.(799-801)gGa>gAa	p.G267E	ACADM_ENST00000543667.1_Missense_Mutation_p.G78E|ACADM_ENST00000541113.1_Missense_Mutation_p.G231E|ACADM_ENST00000420607.2_Missense_Mutation_p.G271E|ACADM_ENST00000370834.5_Missense_Mutation_p.G300E	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	267			G -> R (in ACADMD).		carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						ATTGGTGACGGAGCTGGTTTC	0.343													14	179					0	0	0	0	A	76215195	G	A	76215195	3	1	37	1	0	0	0	0	1	0	0	0	113	1174	41	2	846	2	ACADM	1	76215195	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	5696487	76215195	173035426	15	6978											
LRRC8C	84230	broad.mit.edu	37	chr1	90178478	90178478	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttataaatcagatgtgttatGagcgagccctccactggtat	11	13	9	8	1	1	2	1	1	0	1	2	3	2	2	2	1	2	2	2	1	5	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:90178478G>C	ENST00000370454.4	+	3	604	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	117						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GATGTGTTATGAGCGAGCCCT	0.453													8	222					0	0	0	0	C	90178478	G	C	90178478	3	2	37	1	0	0	0	0	1	0	0	0	9087	1291	45	2	355	2	LRRC8C	1	90178478	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	13963283	90178478	159072143	16	6979											
ZNF644	84146	broad.mit.edu	37	chr1	91403321	91403321	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgatgcagacactgacaGagcttcagtctttaggccat	10	12	9	10	0	3	4	1	2	2	2	3	4	3	4	1	1	2	2	1	1	1	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:91403321G>A	ENST00000370440.1	-	4	3626	c.3409C>T	c.(3409-3411)Ctg>Ttg	p.L1137L	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.L1137L|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GACACTGACAGAGCTTCAGTC	0.383													6	473					0	0	0	0	A	91403321	G	A	91403321	2	1	37	1	0	0	0	0	0	0	0	1	18155	933	33	2		2	ZNF644	1	91403321	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1224843	91403321	157847300	17	6980											
HFM1	164045	broad.mit.edu	37	chr1	91841220	91841220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttctgaagtttcactggtCtatggctctcatccattttc	6	18	6	11	0	4	1	2	1	3	0	7	1	5	1	1	2	0	2	1	2	2	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:91841220C>G	ENST00000370425.3	-	12	1558	c.1460G>C	c.(1459-1461)aGa>aCa	p.R487T	HFM1_ENST00000370424.3_Missense_Mutation_p.R166T|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	487							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCACTGGTCTATGGCTCTC	0.378													8	286					0	0	0	0	G	91841220	C	G	91841220	3	3	37	1	0	0	0	0	1	0	0	0	7133	913	32	2	2959	2	HFM1	1	91841220	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	437899	91841220	157409401	18	6981											
RPAP2	79871	broad.mit.edu	37	chr1	92789250	92789250	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctggtcacaaagctaactCcaaacacaaagacaaagaac	20	4	6	11	0	1	2	1	0	0	2	2	2	2	2	1	1	5	2	1	1	6	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:92789250C>A	ENST00000370343.3	+	8	882	c.773C>A	c.(772-774)tCc>tAc	p.S258Y	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	258						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AAAGCTAACTCCAAACACAAA	0.393													4	167					0.00024832	0.00025564	1	0	A	92789250	C	A	92789250	3	1	37	1	0	0	0	0	1	0	0	0	13627	855	30	2	803	2	RPAP2	1	92789250	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	948030	92789250	156461371	19	6982											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859462	149859462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccctgctttccgcgtcctGacattacggctaaaattgca	8	12	7	14	3	0	1	0	1	0	0	3	1	3	1	3	1	3	3	3	1	3	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:149859462G>A	ENST00000331128.3	-	1	4	c.5C>T	c.(4-6)tCa>tTa	p.S2L	BOLA1_ENST00000369153.2_5'UTR	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	2					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TCCGCGTCCTGACATTACGGC	0.537													12	263					0	0	0	0	A	149859462	G	A	149859462	3	1	37	1	0	0	0	0	1	0	0	0	7227	1294	45	2	391	2	HIST2H2AB	1	149859462	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	57070212	149859462	99391159	20	6983											
PIP5K1A	8394	broad.mit.edu	37	chr1	151204833	151204833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttggtatccggcccgatGattacttggtaagcatctgg	8	14	11	8	2	1	1	0	1	1	0	2	2	2	1	2	4	2	3	2	4	4	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:151204833G>A	ENST00000409426.1	+	5	887	c.442G>A	c.(442-444)Gat>Aat	p.D148N	PIP5K1A_ENST00000368888.4_Missense_Mutation_p.D160N|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.D148N|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.D147N			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	160	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCGGCCCGATGATTACTTGGT	0.498													9	284					0	0	0	0	A	151204833	G	A	151204833	3	1	37	1	0	0	0	0	1	0	0	0	12011	1290	45	2	500	2	PIP5K1A	1	151204833	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1345371	151204833	98045788	21	6984											
TCHH	7062	broad.mit.edu	37	chr1	152083217	152083217	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgcagctctttctccctctCgcgtcgctggcggcgccgct	1	11	11	18	6	3	0	0	0	3	0	6	0	3	0	2	2	2	4	2	2	0	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:152083217C>G	ENST00000368804.1	-	2	2475	c.2476G>C	c.(2476-2478)Gag>Cag	p.E826Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	826					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTCCCTCTCGCGTCGCTGG	0.687													6	173					0	0	0	0	G	152083217	C	G	152083217	3	3	37	1	0	0	0	0	1	0	0	0	15794	893	31	3	3359	3	TCHH	1	152083217	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	878384	152083217	97167404	22	6985											
TCHH	7062	broad.mit.edu	37	chr1	152083788	152083788	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcctcctgctcctcgctCttcagcagctgctggcgcct	2	12	8	19	2	3	0	1	0	2	0	7	0	5	0	4	1	4	5	4	1	0	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:152083788C>G	ENST00000368804.1	-	2	1904	c.1905G>C	c.(1903-1905)aaG>aaC	p.K635N		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	635	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCCTCGCTCTTCAGCAGCT	0.672													5	157					0	0	0	0	G	152083788	C	G	152083788	3	3	37	1	0	0	0	0	1	0	0	0	15794	912	32	2	3930	2	TCHH	1	152083788	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	571	152083788	97166833	23	6986											
FLG2	388698	broad.mit.edu	37	chr1	152323783	152323783	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtggactgtccatgaccaGactggccatgtctagtggta	8	11	13	9	0	1	2	0	1	1	1	2	3	2	3	3	3	0	1	3	3	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:152323783G>C	ENST00000388718.5	-	3	6551	c.6479C>G	c.(6478-6480)tCt>tGt	p.S2160C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2160							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGACCAGACTGGCCATG	0.512													8	571					0	0	0	0	C	152323783	G	C	152323783	3	2	37	1	0	0	0	0	1	0	0	0	5968	942	33	2	700	2	FLG2	1	152323783	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	239995	152323783	96926838	24	6987											
SPRR2E	6704	broad.mit.edu	37	chr1	153066128	153066128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttggtggtgggcagggctCagggcacttcgggggtggac	4	9	20	8	1	1	0	1	0	0	0	2	1	1	1	0	8	0	3	0	8	0	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:153066128C>G	ENST00000368751.1	-	2	174	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	SPRR2E_ENST00000368750.3_Missense_Mutation_p.E34Q|SPRR2B_ENST00000368752.4_Intron			P22531	SPR2E_HUMAN	small proline-rich protein 2E	34	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCAGGGCTCAGGGCACTTC	0.617													10	531					0	0	0	0	G	153066128	C	G	153066128	3	3	37	1	0	0	0	0	1	0	0	0	15190	835	29	2	122	2	SPRR2E	1	153066128	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	742345	153066128	96184493	25	6988											
SCAMP3	10067	broad.mit.edu	37	chr1	155230165	155230165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcagctctcgctcccttCggtccaactcctctgccttc	3	12	7	19	2	2	0	0	0	2	0	8	0	5	0	4	1	4	4	4	1	1	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155230165C>T	ENST00000355379.3	-	3	544	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	SCAMP3_ENST00000302631.3_Missense_Mutation_p.R115Q|SCAMP3_ENST00000472397.1_5'UTR	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	115					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCGCTCCCTTCGGTCCAACTC	0.582													4	181					0	0	0	0	T	155230165	C	T	155230165	3	4	37	1	0	0	0	0	1	0	0	0	13958	884	31	1	723	1	SCAMP3	1	155230165	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	2164037	155230165	94020456	26	6989											
ASH1L	55870	broad.mit.edu	37	chr1	155327111	155327111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatatttcctttttacctttCacgattggacattggcttca	8	18	6	9	1	2	0	2	0	0	0	3	3	3	1	2	2	1	1	2	2	2	9			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155327111C>T	ENST00000368346.3	-	15	7705	c.7066G>A	c.(7066-7068)Gaa>Aaa	p.E2356K	ASH1L_ENST00000392403.3_Missense_Mutation_p.E2351K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2356					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTTACCTTTCACGATTGGAC	0.363													6	159					0	0	0	0	T	155327111	C	T	155327111	3	4	37	1	0	0	0	0	1	0	0	0	1045	835	29	2	1899	2	ASH1L	1	155327111	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	96946	155327111	93923510	27	6990											
ASH1L	55870	broad.mit.edu	37	chr1	155448995	155448995	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctcaaaagaatgcctcctCtttttttgcccacaaaattt	11	15	4	11	0	2	1	1	0	1	1	3	1	3	1	3	0	3	1	3	0	5	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155448995C>G	ENST00000368346.3	-	3	4305	c.3666G>C	c.(3664-3666)aaG>aaC	p.K1222N	ASH1L_ENST00000392403.3_Missense_Mutation_p.K1222N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1222					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AATGCCTCCTCTTTTTTTGCC	0.413													85	206					0	0	0	0	G	155448995	C	G	155448995	3	3	37	1	0	0	0	0	1	0	0	0	1045	912	32	2	5332	2	ASH1L	1	155448995	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	121884	155448995	93801626	28	6991			1	12		5	5	780	C		2.921211e-10
ASH1L	55870	broad.mit.edu	37	chr1	155449016	155449016	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttttgcccacaaaatttCtctgccctgtctgatgtgct	6	18	6	11	0	2	1	0	1	2	0	3	1	2	1	2	0	3	1	2	0	2	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449016C>G	ENST00000368346.3	-	3	4284	c.3645G>C	c.(3643-3645)gaG>gaC	p.E1215D	ASH1L_ENST00000392403.3_Missense_Mutation_p.E1215D			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1215					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.E1215D(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CACAAAATTTCTCTGCCCTGT	0.418													73	192					0	0	0	0	G	155449016	C	G	155449016	3	3	37	1	0	0	0	0	1	0	0	0	1045	912	32	2	5353	2	ASH1L	1	155449016	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	21	155449016	93801605	29	6992			1	12		5	5	780	C		2.921211e-10
ASH1L	55870	broad.mit.edu	37	chr1	155449680	155449680	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgattcaacagtttctttCtctttaaagtcttcatttta	9	21	3	8	0	6	1	2	1	4	0	7	1	6	1	0	0	1	1	0	0	4	8			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449680C>G	ENST00000368346.3	-	3	3620	c.2981G>C	c.(2980-2982)aGa>aCa	p.R994T	ASH1L_ENST00000392403.3_Missense_Mutation_p.R994T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	994					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAGTTTCTTTCTCTTTAAAGT	0.323													23	65					0	0	0	0	G	155449680	C	G	155449680	3	3	37	1	0	0	0	0	1	0	0	0	1045	913	32	2	6017	2	ASH1L	1	155449680	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	664	155449680	93800941	30	6993			1	12		5	5	780	C		2.921211e-10
ASH1L	55870	broad.mit.edu	37	chr1	155449745	155449745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaattgtccattgtttctCttggtaatttttttatctgg	7	23	6	5	0	2	0	0	0	2	0	4	0	3	0	1	2	0	2	1	2	3	10			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449745C>G	ENST00000368346.3	-	3	3555	c.2916G>C	c.(2914-2916)aaG>aaC	p.K972N	ASH1L_ENST00000392403.3_Missense_Mutation_p.K972N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	972					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.K972N(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CATTGTTTCTCTTGGTAATTT	0.343													50	101					0	0	0	0	G	155449745	C	G	155449745	3	3	37	1	0	0	0	0	1	0	0	0	1045	912	32	2	6082	2	ASH1L	1	155449745	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	65	155449745	93800876	31	6994			1	12		5	5	780	C		2.921211e-10
ASH1L	55870	broad.mit.edu	37	chr1	155449774	155449774	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttttatctggttccatctCaaggtcactcatactacaga	10	16	5	10	0	4	1	3	0	2	1	6	1	5	1	1	2	2	1	1	2	4	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449774C>G	ENST00000368346.3	-	3	3526	c.2887G>C	c.(2887-2889)Gag>Cag	p.E963Q	ASH1L_ENST00000392403.3_Missense_Mutation_p.E963Q			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	963					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGTTCCATCTCAAGGTCACTC	0.353													76	150					0	0	0	0	G	155449774	C	G	155449774	3	3	37	1	0	0	0	0	1	0	0	0	1045	835	29	2	6111	2	ASH1L	1	155449774	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	29	155449774	93800847	32	6995			1	12		5	5	780	C		2.921211e-10
SEMA4A	64218	broad.mit.edu	37	chr1	156142792	156142792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccatcttgtcatgtacctggGaaccagtgagtaaagagttc	11	11	10	9	0	2	2	1	1	1	1	3	3	2	3	3	1	2	3	3	1	4	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:156142792G>A	ENST00000368285.3	+	11	1577	c.1310G>A	c.(1309-1311)gGa>gAa	p.G437E	SEMA4A_ENST00000368282.1_Missense_Mutation_p.G437E|SEMA4A_ENST00000368286.2_Missense_Mutation_p.G305E|SEMA4A_ENST00000355014.2_Missense_Mutation_p.G437E|SEMA4A_ENST00000368284.1_Missense_Mutation_p.G305E|SEMA4A_ENST00000487358.1_3'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	437	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ATGTACCTGGGAACCAGTGAG	0.557													5	58					0	0	0	0	A	156142792	G	A	156142792	3	1	37	1	0	0	0	0	1	0	0	0	14118	1174	41	2	1348	2	SEMA4A	1	156142792	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	693018	156142792	93107829	33	6996											
IFI16	3428	broad.mit.edu	37	chr1	159002440	159002440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagccatcttcggactcctCagatgccaccaacaactcca	12	7	6	16	1	2	2	1	0	1	2	5	3	4	3	5	1	4	0	5	1	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:159002440C>G	ENST00000295809.7	+	7	1543	c.1288C>G	c.(1288-1290)Cag>Gag	p.Q430E	IFI16_ENST00000368132.3_Missense_Mutation_p.Q430E|IFI16_ENST00000359709.3_Missense_Mutation_p.Q374E|IFI16_ENST00000368131.4_Missense_Mutation_p.Q430E|IFI16_ENST00000448393.2_Missense_Mutation_p.Q430E|IFI16_ENST00000340979.6_Missense_Mutation_p.Q430E|IFI16_ENST00000430894.2_Missense_Mutation_p.Q378E			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	430					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCGGACTCCTCAGATGCCACC	0.512													11	188					0	0	0	0	G	159002440	C	G	159002440	3	3	37	1	0	0	0	0	1	0	0	0	7564	827	29	2	1310	2	IFI16	1	159002440	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	2859648	159002440	90248181	34	6997											
ATP1A4	480	broad.mit.edu	37	chr1	160128899	160128899	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaccgagtccctgctgacctCcggcttatctctgcacaagg	7	9	10	15	2	1	1	0	1	1	0	4	3	3	1	4	2	2	3	4	2	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:160128899C>G	ENST00000368081.4	+	5	1104	c.633C>G	c.(631-633)ctC>ctG	p.L211L		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	211					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCTGACCTCCGGCTTATCT	0.532													5	132					0	0	0	0	G	160128899	C	G	160128899	2	3	37	1	0	0	0	0	0	0	0	1	1135	842	30	2		2	ATP1A4	1	160128899	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1126459	160128899	89121722	35	6998											
ATP1A4	480	broad.mit.edu	37	chr1	160147443	160147443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacctggaggacagctacGgacagcagtgggtgagtaga	12	6	16	7	1	0	3	0	2	0	1	0	6	0	6	1	4	3	3	1	4	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:160147443G>A	ENST00000368081.4	+	18	3196	c.2725G>A	c.(2725-2727)Gga>Aga	p.G909R	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Missense_Mutation_p.G45R	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	909					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGACAGCTACGGACAGCAGTG	0.488													41	95					0	0	0	0	A	160147443	G	A	160147443	3	1	37	1	0	0	0	0	1	0	0	0	1135	1117	39	1	2795	1	ATP1A4	1	160147443	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	18544	160147443	89103178	36	6999											
FMO2	2327	broad.mit.edu	37	chr1	171178065	171178065	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctaaactggctgtgagactCtatttcggaccctgcaactc	9	11	8	13	1	1	1	0	1	1	1	3	3	1	2	2	2	3	2	2	2	4	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:171178065C>G	ENST00000441535.1	+	9	1506	c.1389C>G	c.(1387-1389)ctC>ctG	p.L463L	FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000209929.7_Silent_p.L463L|RP1-127D3.4_ENST00000445290.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	463					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGTGAGACTCTATTTCGGAC	0.478													14	533					0	0	0	0	G	171178065	C	G	171178065	2	3	37	1	0	0	0	0	0	0	0	1	6000	900	32	2		2	FMO2	1	171178065	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	11030622	171178065	78072556	37	7000											
TNFSF4	7292	broad.mit.edu	37	chr1	173155684	173155684	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagaattcaccaggattttGatggataagaatcagttctc	14	12	8	7	0	3	3	2	1	1	2	4	5	3	5	1	2	0	1	1	2	3	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:173155684G>C	ENST00000281834.3	-	3	659	c.523C>G	c.(523-525)Caa>Gaa	p.Q175E	TNFSF4_ENST00000367718.1_Missense_Mutation_p.Q125E	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	175					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CCAGGATTTTGATGGATAAGA	0.468													4	117					0	0	0	0	C	173155684	G	C	173155684	3	2	37	1	0	0	0	0	1	0	0	0	16404	1299	45	2	32	2	TNFSF4	1	173155684	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1977619	173155684	76094937	38	7001											
ASTN1	460	broad.mit.edu	37	chr1	176993782	176993782	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacgagagggcagttgacgtGagaggagcacacgaggccaa	14	3	16	8	3	0	3	0	2	0	2	0	7	0	4	1	3	2	3	1	3	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:176993782G>C	ENST00000367654.2	-	6	1220	c.1207C>G	c.(1207-1209)Cac>Gac	p.H403D	ASTN1_ENST00000367657.3_Missense_Mutation_p.H403D|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.H403D|ASTN1_ENST00000424564.2_Missense_Mutation_p.H403D			O14525	ASTN1_HUMAN	astrotactin 1	403					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						CAGTTGACGTGAGAGGAGCAC	0.552													5	84					0	0	0	0	C	176993782	G	C	176993782	3	2	37	1	0	0	0	0	1	0	0	0	1068	1290	45	2	2753	2	ASTN1	1	176993782	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	3838098	176993782	72256839	39	7002											
ASPM	259266	broad.mit.edu	37	chr1	197072981	197072981	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagtagctgcttttttgacTtgcaagaagttcttcctctg	8	16	8	9	0	2	2	0	1	2	1	3	2	3	2	1	0	3	5	1	0	4	7			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:197072981T>A	ENST00000367409.4	-	18	5656	c.5400A>T	c.(5398-5400)caA>caT	p.Q1800H	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1800					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTTTGACTTGCAAGAAGT	0.368													93	146					0	0	0	0	A	197072981	T	A	197072981	3	1	37	1	0	0	0	0	1	0	0	0	1060	1606	56	5	5077	5	ASPM	1	197072981	Missense_Mutation	SNP	T	TCGA-BB-4223-01A-01D-1434-08	20079199	197072981	52177640	40	7003											
PPP1R15B	84919	broad.mit.edu	37	chr1	204379825	204379825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctatttccatcactgttctGatagctgacttctagcctag	8	15	7	11	0	3	2	1	2	2	0	4	2	4	2	2	0	2	3	2	0	4	7			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:204379825G>C	ENST00000367188.4	-	1	1094	c.715C>G	c.(715-717)Cag>Gag	p.Q239E	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	239					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TCACTGTTCTGATAGCTGACT	0.507													6	210					0	0	0	0	C	204379825	G	C	204379825	3	2	37	1	0	0	0	0	1	0	0	0	12440	1299	45	2	1434	2	PPP1R15B	1	204379825	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	7306844	204379825	44870796	41	7004											
NEK2	4751	broad.mit.edu	37	chr1	211842543	211842543	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcactcaatacagggctGgaatcctgcgatttttctgg	9	12	10	10	1	3	0	2	0	1	0	4	2	4	1	1	3	3	2	1	3	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:211842543G>A	ENST00000366999.4	-	6	1035	c.897C>T	c.(895-897)tcC>tcT	p.S299S	NEK2_ENST00000540251.1_Silent_p.S256S|NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000366998.3_Silent_p.S299S	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	299	Interaction with PCNT.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		ATACAGGGCTGGAATCCTGCG	0.443													16	424					0	0	0	0	A	211842543	G	A	211842543	2	1	37	1	0	0	0	0	0	0	0	1	10394	1335	47	4		4	NEK2	1	211842543	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	7462718	211842543	37408078	42	7005											
PROX1	5629	broad.mit.edu	37	chr1	214171409	214171409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctggaaaagacagagccTctcctgaatccttagactta	12	11	7	11	0	2	4	0	1	2	3	5	5	3	5	3	1	1	0	3	1	5	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:214171409T>C	ENST00000366958.4	+	2	2139	c.1531T>C	c.(1531-1533)Tct>Cct	p.S511P	PROX1_ENST00000261454.4_Missense_Mutation_p.S511P|PROX1_ENST00000498508.2_Missense_Mutation_p.S511P|PROX1_ENST00000435016.1_Missense_Mutation_p.S511P	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	511					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGACAGAGCCTCTCCTGAATC	0.562													5	211					0	0	0	0	C	214171409	T	C	214171409	3	2	37	1	0	0	0	0	1	0	0	0	12640	1551	54	5	1533	5	PROX1	1	214171409	Missense_Mutation	SNP	T	TCGA-BB-4223-01A-01D-1434-08	2328866	214171409	35079212	43	7006											
TP53BP2	7159	broad.mit.edu	37	chr1	223984046	223984046	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagaggccttggtgcgttaGacagtttctttcgtaaggct	7	15	12	7	2	1	2	0	0	1	2	2	2	1	2	1	3	1	4	1	3	3	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:223984046G>C	ENST00000391878.2	-	14	2576	c.1808C>G	c.(1807-1809)tCt>tGt	p.S603C	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.S732C|TP53BP2_ENST00000391879.2_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	726					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TGGTGCGTTAGACAGTTTCTT	0.438													6	261					0	0	0	0	C	223984046	G	C	223984046	3	2	37	1	0	0	0	0	1	0	0	0	16479	942	33	2	1233	2	TP53BP2	1	223984046	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	9812637	223984046	25266575	44	7007											
LYST	1130	broad.mit.edu	37	chr1	235972988	235972988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgcagtgttttcttttgtCttggtgcaaaagggtcaggc	6	15	12	8	0	3	0	1	0	2	0	3	0	3	0	1	3	2	3	1	3	2	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:235972988C>G	ENST00000389794.3	-	5	1304	c.1130G>C	c.(1129-1131)aGa>aCa	p.R377T	LYST_ENST00000389793.2_Missense_Mutation_p.R377T|LYST_ENST00000536965.1_Missense_Mutation_p.R377T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	377					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTCTTTTGTCTTGGTGCAAA	0.378													10	281					0	0	0	0	G	235972988	C	G	235972988	3	3	37	1	0	0	0	0	1	0	0	0	9193	913	32	2	10471	2	LYST	1	235972988	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	11988942	235972988	13277633	45	7008											
NID1	4811	broad.mit.edu	37	chr1	236154251	236154251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctccaggggcaggcgctCaatcttcccagtctgggcaa	7	8	11	15	1	3	0	1	0	2	0	6	0	6	0	3	4	0	3	3	4	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:236154251C>T	ENST00000264187.6	-	14	2945	c.2863G>A	c.(2863-2865)Gag>Aag	p.E955K	NID1_ENST00000366595.3_Missense_Mutation_p.E822K	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	955					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGCAGGCGCTCAATCTTCCCA	0.577													4	167					0	0	0	0	T	236154251	C	T	236154251	3	4	37	1	0	0	0	0	1	0	0	0	10484	835	29	2	908	2	NID1	1	236154251	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	181263	236154251	13096370	46	7009											
OR2T4	127074	broad.mit.edu	37	chr1	248525533	248525533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgaagttcctgctgtattGaatctctcctgctcagacac	8	14	8	11	0	2	3	1	2	1	1	5	3	4	3	2	0	2	4	2	0	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:248525533G>A	ENST00000366475.1	+	1	651	c.651G>A	c.(649-651)ttG>ttA	p.L217L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCTGTATTGAATCTCTCCT	0.478													13	282					0	0	0	0	A	248525533	G	A	248525533	2	1	37	1	0	0	0	0	0	0	0	1	11098	1281	45	2		2	OR2T4	1	248525533	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	12371282	248525533	725088	47	7010											
TPO	7173	broad.mit.edu	37	chr2	1497617	1497617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcggcctgcctcgcctggaGacccccgctgacctgagcac	5	6	12	18	3	0	3	0	2	0	1	1	4	0	3	6	2	3	2	6	2	0	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:1497617G>A	ENST00000345913.4	+	11	1903	c.1812G>A	c.(1810-1812)gaG>gaA	p.E604E	TPO_ENST00000337415.3_Silent_p.E604E|TPO_ENST00000382198.1_Silent_p.E431E|TPO_ENST00000382201.3_Silent_p.E547E|TPO_ENST00000349624.3_Silent_p.E431E|TPO_ENST00000346956.3_Silent_p.E604E|TPO_ENST00000329066.4_Silent_p.E604E|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	604					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCGCCTGGAGACCCCCGCTG	0.587													28	35					0	0	0	0	A	1497617	G	A	1497617	2	1	37	1	0	0	0	0	0	0	0	1	16505	933	33	2		2	TPO	2	1497617	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08		1497617	241701756	48	7011											
ODC1	4953	broad.mit.edu	37	chr2	10582007	10582007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattaaatgatccatagacgCcatcattcacataatacata	18	11	3	9	1	2	2	2	1	0	1	3	2	3	2	2	0	1	0	2	0	7	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:10582007C>T	ENST00000234111.4	-	10	1472	c.962G>A	c.(961-963)gGc>gAc	p.G321D	ODC1_ENST00000405333.1_Missense_Mutation_p.G321D	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	321					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TCCATAGACGCCATCATTCAC	0.373													92	149					0	0	0	0	T	10582007	C	T	10582007	3	4	37	1	0	0	0	0	1	0	0	0	10896	739	26	4	435	4	ODC1	2	10582007	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	9084390	10582007	232617366	49	7012											
LAPTM4A	9741	broad.mit.edu	37	chr2	20240727	20240727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggcatggagtttggatGagtcacttccacagtcagca	10	10	12	9	0	2	1	2	1	0	0	3	3	3	3	1	3	2	4	1	3	0	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:20240727G>A	ENST00000175091.4	-	2	664	c.157C>T	c.(157-159)Cat>Tat	p.H53Y		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	53					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTTTGGATGAGTCACTTCC	0.368													9	157					0	0	0	0	A	20240727	G	A	20240727	3	1	37	1	0	0	0	0	1	0	0	0	8677	1290	45	2	568	2	LAPTM4A	2	20240727	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	9658720	20240727	222958646	50	7013											
ATAD2B	54454	broad.mit.edu	37	chr2	24033258	24033258	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatctagtctatgcacagaGaatctttctagagtgtgcaa	13	12	9	7	0	4	3	0	0	4	3	4	4	4	3	0	0	2	2	0	0	5	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:24033258G>C	ENST00000238789.5	-	18	2725	c.2382C>G	c.(2380-2382)ttC>ttG	p.F794L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	794							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATGCACAGAGAATCTTTCTA	0.478													5	102					0	0	0	0	C	24033258	G	C	24033258	3	2	37	1	0	0	0	0	1	0	0	0	1076	933	33	2	2038	2	ATAD2B	2	24033258	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	3792531	24033258	219166115	51	7014											
NCOA1	8648	broad.mit.edu	37	chr2	24928094	24928094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatcatgggaattcatatCatcgacaggtactacttatt	12	15	6	8	1	4	0	4	0	0	0	5	2	4	1	0	2	2	1	0	2	5	7			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:24928094C>T	ENST00000405141.1	+	13	1800	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	NCOA1_ENST00000348332.3_Silent_p.I363I|NCOA1_ENST00000395856.3_Silent_p.I363I|NCOA1_ENST00000288599.5_Silent_p.I363I|NCOA1_ENST00000538539.1_Silent_p.I363I|NCOA1_ENST00000406961.1_Silent_p.I363I|NCOA1_ENST00000407230.1_Silent_p.I212I			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	363	Interaction with STAT3.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAATTCATATCATCGACAGGT	0.378			T	PAX3	alveolar rhadomyosarcoma								5	129					0	0	0	0	T	24928094	C	T	24928094	2	4	37	1	0	0	0	0	0	0	0	1	10298	816	29	2		2	NCOA1	2	24928094	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	894836	24928094	218271279	52	7015											
PLB1	151056	broad.mit.edu	37	chr2	28789673	28789673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgttacagcgtcggcggaGatgagaacatcggcaccgtt	10	7	13	11	6	0	2	0	1	0	2	2	4	0	2	1	3	3	3	1	3	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:28789673G>A	ENST00000422425.2	+	20	1368	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	PLB1_ENST00000327757.5_Missense_Mutation_p.D431N|PLB1_ENST00000329020.6_Missense_Mutation_p.D119N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	431	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CGTCGGCGGAGATGAGAACAT	0.622											OREG0014523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	109					0	0	0	0	A	28789673	G	A	28789673	3	1	37	1	0	0	0	0	1	0	0	0	12096	942	33	2	1402	2	PLB1	2	28789673	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	3861579	28789673	214409700	53	7016											
PRKD3	23683	broad.mit.edu	37	chr2	37520348	37520348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcagctgcaaaatgttttCtgagttcatgtcatggcgaa	12	13	9	7	1	4	1	3	1	1	0	4	2	4	1	0	1	2	4	0	1	4	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:37520348C>T	ENST00000379066.1	-	3	1117	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	PRKD3_ENST00000234179.2_Missense_Mutation_p.E119K			O94806	KPCD3_HUMAN	protein kinase D3	119					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AAAATGTTTTCTGAGTTCATG	0.398													79	106					0	0	0	0	T	37520348	C	T	37520348	3	4	37	1	0	0	0	0	1	0	0	0	12600	922	32	2	2385	2	PRKD3	2	37520348	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	8730675	37520348	205679025	54	7017											
SOS1	6654	broad.mit.edu	37	chr2	39234270	39234270	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caactcttgaaagacttgtaGaatctcaataattcgactca	15	12	5	9	1	3	3	2	1	2	2	5	4	3	3	0	0	1	1	0	0	6	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:39234270G>C	ENST00000426016.1	-	17	2661	c.2575C>G	c.(2575-2577)Cta>Gta	p.L859V	SOS1_ENST00000395038.2_Missense_Mutation_p.L859V|SOS1_ENST00000402219.2_Missense_Mutation_p.L859V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	859	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAGACTTGTAGAATCTCAATA	0.348									Noonan syndrome				6	269					0	0	0	0	C	39234270	G	C	39234270	3	2	37	1	0	0	0	0	1	0	0	0	15024	933	33	2	1458	2	SOS1	2	39234270	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1713922	39234270	203965103	55	7018											
C2orf61	285051	broad.mit.edu	37	chr2	47378441	47378441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggcttggccgtggtttgtCtttgaatgagtaagtagcca	7	13	15	6	1	1	2	0	2	1	0	1	2	1	2	2	4	1	4	2	4	3	5	rs147631903		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:47378441C>G	ENST00000294947.2	-	3	390	c.355G>C	c.(355-357)Gac>Cac	p.D119H	CALM2_ENST00000422269.1_5'UTR|C2orf61_ENST00000445927.2_Missense_Mutation_p.D119H	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	119								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CGTGGTTTGTCTTTGAATGAG	0.473													10	173					0	0	0	0	G	47378441	C	G	47378441	3	3	37	1	0	0	0	0	1	0	0	0	2200	913	32	2	426	2	C2orf61	2	47378441	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	8144171	47378441	195820932	56	7019											
MSH6	2956	broad.mit.edu	37	chr2	48026377	48026377	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtggtggcagattaagtctCagaactttgatcttgtcatc	10	14	10	7	0	3	3	2	1	2	2	5	3	3	3	0	2	1	1	0	2	2	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:48026377C>T	ENST00000234420.4	+	4	1407	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	MSH6_ENST00000540021.1_Nonsense_Mutation_p.Q289*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.Q117*|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	419					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GATTAAGTCTCAGAACTTTGA	0.448			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				4	141					0	0	0	0	T	48026377	C	T	48026377	4	4	37	1	0	0	0	0	0	1	0	0	9944	827	29	2	1269	2	MSH6	2	48026377	Nonsense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	647936	48026377	195172996	57	7020											
CCDC85A	114800	broad.mit.edu	37	chr2	56599513	56599513	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggcaacctccaactagaaAcagctcaaatatggagaaag	19	5	8	9	0	1	2	1	0	0	2	2	3	2	2	2	2	4	2	2	2	8	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:56599513A>G	ENST00000407595.2	+	4	1854	c.1352A>G	c.(1351-1353)aAc>aGc	p.N451S	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	451										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCAACTAGAAACAGCTCAAAT	0.502													7	10					0	0	0	0	G	56599513	A	G	56599513	3	3	37	1	0	0	0	0	1	0	0	0	2886	43	2	5	1366	5	CCDC85A	2	56599513	Missense_Mutation	SNP	A	TCGA-BB-4223-01A-01D-1434-08	8573136	56599513	186599860	58	7021											
EHBP1	23301	broad.mit.edu	37	chr2	63053232	63053232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcttccaggaatccccttCtggtcgaaggaaagctcttg	10	11	9	11	1	3	0	0	0	3	0	6	3	5	2	3	3	1	1	3	3	4	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:63053232C>G	ENST00000263991.5	+	6	805	c.323C>G	c.(322-324)tCt>tGt	p.S108C	EHBP1_ENST00000405289.1_Missense_Mutation_p.S108C|EHBP1_ENST00000354487.3_Missense_Mutation_p.S108C|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405015.3_Missense_Mutation_p.S108C|EHBP1_ENST00000431489.1_Missense_Mutation_p.S108C	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	108						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAATCCCCTTCTGGTCGAAGG	0.318													3	107					0	0	0	0	G	63053232	C	G	63053232	3	3	37	1	0	0	0	0	1	0	0	0	5011	913	32	2	341	2	EHBP1	2	63053232	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	6453719	63053232	180146141	59	7022											
NAT8	9027	broad.mit.edu	37	chr2	73868552	73868552	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagggcagggaagaggctGatgctgaacacgagggctag	12	4	17	8	1	0	3	0	2	0	1	0	5	0	4	0	4	2	4	0	4	3	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:73868552G>A	ENST00000272425.3	-	2	353	c.204C>T	c.(202-204)atC>atT	p.I68I		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	68	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GGAAGAGGCTGATGCTGAACA	0.537													10	224					0	0	0	0	A	73868552	G	A	73868552	2	1	37	1	0	0	0	0	0	0	0	1	10249	1280	45	2		2	NAT8	2	73868552	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	10815320	73868552	169330821	60	7023											
SLC9A4	389015	broad.mit.edu	37	chr2	103124670	103124670	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcatttttgcttcctctgtCtctttttcctaggaagaaaa	8	18	6	9	0	2	1	0	0	2	1	5	2	4	2	2	1	2	2	2	1	4	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:103124670C>G	ENST00000295269.4	+	5	1788	c.1331C>G	c.(1330-1332)tCt>tGt	p.S444C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	444					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						CTTCCTCTGTCTCTTTTTCCT	0.363													3	134					0	0	0	0	G	103124670	C	G	103124670	3	3	37	1	0	0	0	0	1	0	0	0	14804	913	32	2	1349	2	SLC9A4	2	103124670	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	29256118	103124670	140074703	61	7024											
MRPS9	64965	broad.mit.edu	37	chr2	105665724	105665724	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggattttattaaaaagcaGattgaagagttcaacatagg	17	11	10	3	0	1	3	1	1	0	2	1	5	1	4	0	2	2	2	0	2	7	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:105665724G>A	ENST00000258455.3	+	2	341	c.231G>A	c.(229-231)caG>caA	p.Q77Q		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	77					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TTAAAAAGCAGATTGAAGAGT	0.348													7	99					0	0	0	0	A	105665724	G	A	105665724	2	1	37	1	0	0	0	0	0	0	0	1	9919	933	33	2		2	MRPS9	2	105665724	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2541054	105665724	137533649	62	7025											
SLC20A1	6574	broad.mit.edu	37	chr2	113410356	113410356	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaataaacctcttttccatCatgtatactggagcaccgtg	11	12	8	10	1	2	0	1	0	1	0	3	2	3	2	3	2	3	2	3	2	5	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:113410356C>T	ENST00000272542.3	+	5	1178	c.639C>T	c.(637-639)atC>atT	p.I213I	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	213					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TCTTTTCCATCATGTATACTG	0.353													7	273					0	0	0	0	T	113410356	C	T	113410356	2	4	37	1	0	0	0	0	0	0	0	1	14526	816	29	2		2	SLC20A1	2	113410356	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	7744632	113410356	129789017	63	7026											
PROC	5624	broad.mit.edu	37	chr2	128186312	128186312	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgtgcgggcatcctcggGgaccggcaggatgcctgcga	5	7	17	12	4	0	0	0	0	0	0	2	3	1	2	3	5	3	2	3	5	0	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:128186312G>A	ENST00000453608.2	+	8	1349	c.1341G>A	c.(1339-1341)ggG>ggA	p.G447G	PROC_ENST00000409048.1_Silent_p.G426G|PROC_ENST00000234071.3_Silent_p.G392G|PROC_ENST00000422777.3_Silent_p.G392G			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	392	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GCATCCTCGGGGACCGGCAGG	0.632													8	205					0	0	0	0	A	128186312	G	A	128186312	2	1	37	1	0	0	0	0	0	0	0	1	12625	1219	43	4		4	PROC	2	128186312	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	14775956	128186312	115013061	64	7027											
POTEF	728378	broad.mit.edu	37	chr2	130832366	130832366	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctatagccatgctcggtGaggatcttcatgaggtagtc	10	11	11	9	1	2	2	1	2	1	0	4	3	2	3	2	3	3	2	2	3	4	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:130832366G>A	ENST00000357462.5	-	15	2772	c.2679C>T	c.(2677-2679)ctC>ctT	p.L893L	POTEF_ENST00000409914.2_Silent_p.L893L			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	893	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CATGCTCGGTGAGGATCTTCA	0.587													9	98					0	0	0	0	A	130832366	G	A	130832366	2	1	37	1	0	0	0	0	0	0	0	1	12337	1277	45	2		2	POTEF	2	130832366	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2646054	130832366	112367007	65	7028											
ACMSD	130013	broad.mit.edu	37	chr2	135659429	135659429	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagagaaaacaatttgaatGactgaatttactacaaaggc	18	10	8	5	0	0	5	0	4	0	1	0	6	0	5	0	1	3	0	0	1	8	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:135659429G>C	ENST00000356140.5	+	10	1146	c.1010G>C	c.(1009-1011)tGa>tCa	p.*337S	ACMSD_ENST00000392928.1_Nonstop_Mutation_p.*279S|ACMSD_ENST00000283054.4_Nonstop_Mutation_p.*279S|AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000392929.2_RNA|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000537615.1_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	0					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CAATTTGAATGACTGAATTTA	0.299													3	75					0	0	0	0	C	135659429	G	C	135659429	4	2	37	1	0	0	0	0	0	0	0	0	144	1285	45	2	1048	2	ACMSD	2	135659429	Nonstop_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	4827063	135659429	107539944	66	7029											
UBXN4	23190	broad.mit.edu	37	chr2	136537915	136537915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgagagtaacatcgtcaGaacccccaaaccctgcatca	14	6	7	14	1	2	2	2	1	0	2	3	3	2	2	3	0	4	2	3	0	3	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:136537915G>A	ENST00000272638.9	+	12	1659	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	450					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AACATCGTCAGAACCCCCAAA	0.388													13	256					0	0	0	0	A	136537915	G	A	136537915	3	1	37	1	0	0	0	0	1	0	0	0	17012	943	33	2	1394	2	UBXN4	2	136537915	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	878486	136537915	106661458	67	7030											
ITGB6	3694	broad.mit.edu	37	chr2	161052754	161052754	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacttaaggatcaagctttGaggcgcaatctgaacaatgt	14	10	9	8	1	2	2	1	2	1	0	2	3	2	3	0	2	3	2	0	2	6	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:161052754G>A	ENST00000283249.2	-	3	556	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	ITGB6_ENST00000409967.2_Nonsense_Mutation_p.Q107*|ITGB6_ENST00000409872.1_Nonsense_Mutation_p.Q107*|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Nonsense_Mutation_p.Q65*			P18564	ITB6_HUMAN	integrin, beta 6	107					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ATCAAGCTTTGAGGCGCAATC	0.383													13	244					0	0	0	0	A	161052754	G	A	161052754	4	1	37	1	0	0	0	0	0	1	0	0	7952	1299	45	2	2099	2	ITGB6	2	161052754	Nonsense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	24514839	161052754	82146619	68	7031											
KIAA1715	80856	broad.mit.edu	37	chr2	176794913	176794913	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgtattatcatcaagaacatCgtgttctaaagattctgaaa	15	14	6	6	1	4	3	2	1	2	2	5	3	4	3	0	0	1	2	0	0	7	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:176794913C>G	ENST00000272748.4	-	13	1316	c.1069G>C	c.(1069-1071)Gat>Cat	p.D357H	KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.D388H	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	357						integral to membrane	protein binding	p.D357Y(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TCAAGAACATCGTGTTCTAAA	0.353													3	169					0	0	0	0	G	176794913	C	G	176794913	3	3	37	1	0	0	0	0	1	0	0	0	8305	884	31	3	221	3	KIAA1715	2	176794913	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	15742159	176794913	66404460	69	7032											
HOXD10	3236	broad.mit.edu	37	chr2	176983913	176983913	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaaactcaagaagatgagccGagagaaccggatccgagaac	17	3	12	9	3	1	5	1	1	0	4	2	10	2	6	3	1	4	0	3	1	5	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:176983913G>C	ENST00000249501.4	+	2	1232	c.977G>C	c.(976-978)cGa>cCa	p.R326P	HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	326						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AAGATGAGCCGAGAGAACCGG	0.572													5	101					0	0	0	0	C	176983913	G	C	176983913	3	2	37	1	0	0	0	0	1	0	0	0	7369	1058	37	3	983	3	HOXD10	2	176983913	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	189000	176983913	66215460	70	7033											
TTN	7273	broad.mit.edu	37	chr2	179569097	179569097	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcaagtctggccttctttCagagtcacatcctgaagatg	9	12	10	10	0	4	3	2	1	2	2	5	3	5	3	2	1	1	1	2	1	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:179569097C>G	ENST00000589042.1	-	106	30224	c.30000G>C	c.(29998-30000)ctG>ctC	p.L10000L	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.L8756L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.L9683L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9683	Glu-rich.						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)			GGCCTTCTTTCAGAGTCACAT	0.428													16	338					0	0	0	0	G	179569097	C	G	179569097	2	3	37	1	0	0	0	0	0	0	0	1	16831	813	29	2		2	TTN	2	179569097	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	2585184	179569097	63630276	71	7034											
DNAH7	56171	broad.mit.edu	37	chr2	196801458	196801458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctccaaaagttcattaGattttttcagcctttccagc	10	15	6	10	0	2	2	2	1	0	1	4	2	4	2	3	0	3	2	3	0	3	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:196801458G>T	ENST00000312428.6	-	20	3237	c.3137C>A	c.(3136-3138)tCt>tAt	p.S1046Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1046	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGTTCATTAGATTTTTTCAG	0.299													4	103					0.00909568	0.00927964	1	0	T	196801458	G	T	196801458	3	4	37	1	0	0	0	0	1	0	0	0	4642	942	33	2	9121	2	DNAH7	2	196801458	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	17232361	196801458	46397915	72	7035											
SGOL2	151246	broad.mit.edu	37	chr2	201437872	201437872	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaagatgcacatgtccaaGaaagctatacaaaagatctt	19	9	6	7	0	1	3	0	0	1	3	2	3	2	3	1	0	3	2	1	0	8	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:201437872G>C	ENST00000357799.4	+	7	2901	c.2803G>C	c.(2803-2805)Gaa>Caa	p.E935Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	935					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ACATGTCCAAGAAAGCTATAC	0.274													9	198					0	0	0	0	C	201437872	G	C	201437872	3	2	37	1	0	0	0	0	1	0	0	0	14304	943	33	2	2825	2	SGOL2	2	201437872	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	4636414	201437872	41761501	73	7036											
ALS2	57679	broad.mit.edu	37	chr2	202572650	202572650	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agtgcaaaaagacttcctttCggttggcagaggagcagaga	13	8	13	7	1	0	3	0	0	0	3	2	5	1	4	1	3	2	4	1	3	2	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:202572650C>G	ENST00000264276.6	-	28	4717	c.4345G>C	c.(4345-4347)Gaa>Caa	p.E1449Q	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1449					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GACTTCCTTTCGGTTGGCAGA	0.438													3	103					0	0	0	0	G	202572650	C	G	202572650	3	3	37	1	0	0	0	0	1	0	0	0	550	893	31	3	656	3	ALS2	2	202572650	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1134778	202572650	40626723	74	7037											
RPL37A	6168	broad.mit.edu	37	chr2	217364725	217364725	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgtggttcctgcatgaaGacagtggctggcggtgcctg	6	10	15	10	1	0	2	0	1	0	1	1	2	1	2	2	4	2	3	2	4	1	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:217364725G>C	ENST00000491306.1	+	3	872	c.186G>C	c.(184-186)aaG>aaC	p.K62N	RPL37A_ENST00000456586.1_Missense_Mutation_p.K38N|RPL37A_ENST00000600880.1_Missense_Mutation_p.K62N|RPL37A_ENST00000446558.1_Missense_Mutation_p.K62N|RPL37A_ENST00000441179.2_Missense_Mutation_p.K38N|RPL37A_ENST00000427280.2_Missense_Mutation_p.K38N|RPL37A_ENST00000598925.1_Missense_Mutation_p.K38N	NM_000998.4	NP_000989.1	P61513	RL37A_HUMAN	ribosomal protein L37a	62					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	metal ion binding|protein binding|structural constituent of ribosome			NS(1)|ovary(1)	2		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCATGAAGACAGTGGCTG	0.473													4	132					0	0	0	0	C	217364725	G	C	217364725	3	2	37	1	0	0	0	0	1	0	0	0	13675	933	33	2	196	2	RPL37A	2	217364725	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	14792075	217364725	25834648	75	7038											
PLCD4	84812	broad.mit.edu	37	chr2	219496958	219496958	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctgagttggaagagtcaGaattggcgctggagtcccag	11	8	14	8	1	1	3	1	1	0	2	2	5	2	5	2	3	1	2	2	3	3	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:219496958G>C	ENST00000450993.2	+	10	1711	c.1372G>C	c.(1372-1374)Gaa>Caa	p.E458Q	PLCD4_ENST00000432688.1_Missense_Mutation_p.E458Q|PLCD4_ENST00000417849.1_Missense_Mutation_p.E458Q	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	458	Glu-rich.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAAGAGTCAGAATTGGCGCT	0.502													4	17					0	0	0	0	C	219496958	G	C	219496958	3	2	37	1	0	0	0	0	1	0	0	0	12105	943	33	2	1406	2	PLCD4	2	219496958	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2132233	219496958	23702415	76	7039											
COL4A4	1286	broad.mit.edu	37	chr2	227973311	227973311	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccgggtctcccatttGcccctttactcccacaccgg	5	12	6	18	2	2	0	0	0	2	0	4	0	3	0	6	2	3	0	6	2	2	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:227973311G>A	ENST00000396625.3	-	12	928	c.721C>T	c.(721-723)Caa>Taa	p.Q241*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.Q241*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	241	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCTCCCATTTGCCCCTTTACT	0.418													7	231					0	0	0	0	A	227973311	G	A	227973311	4	1	37	1	0	0	0	0	0	1	0	0	3723	1328	46	4	4499	4	COL4A4	2	227973311	Nonsense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	8476353	227973311	15226062	77	7040											
NMUR1	10316	broad.mit.edu	37	chr2	232393432	232393432	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtccgacacggccaggctGaagaggtagtagttggtagg	10	7	17	7	2	0	2	0	1	0	1	1	3	1	2	2	6	0	5	2	6	4	4	rs139992213	by1000genomes	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:232393432G>A	ENST00000305141.4	-	2	433	c.300C>T	c.(298-300)ttC>ttT	p.F100F		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	100					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGCCAGGCTGAAGAGGTAGT	0.627													10	156					0	0	0	0	A	232393432	G	A	232393432	2	1	37	1	0	0	0	0	0	0	0	1	10576	1281	45	2		2	NMUR1	2	232393432	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	4420121	232393432	10805941	78	7041											
EDEM1	9695	broad.mit.edu	37	chr3	5243458	5243458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcctgggaagcctcctttCtgctcacagaataataactg	10	11	9	11	0	2	1	1	0	1	1	4	2	4	2	3	2	3	1	3	2	4	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:5243458C>T	ENST00000256497.4	+	4	840	c.707C>T	c.(706-708)tCt>tTt	p.S236F	EDEM1_ENST00000445686.1_Missense_Mutation_p.S41F	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	236					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.S236F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGCCTCCTTTCTGCTCACAGA	0.408													85	144					0	0	0	0	T	5243458	C	T	5243458	3	4	37	1	0	0	0	0	1	0	0	0	4947	913	32	2	721	2	EDEM1	3	5243458	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08		5243458	192778972	79	7042											
RAF1	5894	broad.mit.edu	37	chr3	12660106	12660106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcatctgatgcccggcgctGatagccaaactgctgaacta	11	9	9	12	2	2	3	1	3	1	0	2	3	2	3	2	1	5	2	2	1	4	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:12660106G>C	ENST00000251849.4	-	2	554	c.115C>G	c.(115-117)Cag>Gag	p.Q39E	RAF1_ENST00000442415.2_Missense_Mutation_p.Q39E|RAF1_ENST00000542177.1_De_novo_Start_InFrame	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	39					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GCCCGGCGCTGATAGCCAAAC	0.473			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				13	201					0	0	0	0	C	12660106	G	C	12660106	3	2	37	1	0	0	0	0	1	0	0	0	13084	1299	45	2	1895	2	RAF1	3	12660106	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	7416648	12660106	185362324	80	7043											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37033799	37033799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgtatgagacgagtcctGagttctcaccaatcatcctc	10	12	7	12	1	3	2	3	2	1	1	7	4	5	2	3	0	0	2	3	0	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:37033799G>A	ENST00000322716.5	-	1	996	c.770C>T	c.(769-771)tCa>tTa	p.S257L		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	257						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GACGAGTCCTGAGTTCTCACC	0.473													13	302					0	0	0	0	A	37033799	G	A	37033799	3	1	37	1	0	0	0	0	1	0	0	0	5222	1294	45	2	1057	2	EPM2AIP1	3	37033799	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	24373693	37033799	160988631	81	7044											
MLH1	4292	broad.mit.edu	37	chr3	37081681	37081681	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attttttgttttgcagttctCcgggagatgttgcataacca	8	17	9	7	1	1	1	0	0	1	1	2	2	1	1	2	1	3	5	2	1	1	8			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:37081681C>T	ENST00000231790.2	+	14	1779	c.1563C>T	c.(1561-1563)ctC>ctT	p.L521L	MLH1_ENST00000536378.1_Silent_p.L280L|MLH1_ENST00000458205.2_Silent_p.L280L|MLH1_ENST00000435176.1_Silent_p.L423L|MLH1_ENST00000455445.2_Silent_p.L280L|MLH1_ENST00000539477.1_Silent_p.L280L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	521	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTGCAGTTCTCCGGGAGATGT	0.458		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				4	142					0	0	0	0	T	37081681	C	T	37081681	2	4	37	1	0	0	0	0	0	0	0	1	9686	842	30	2		2	MLH1	3	37081681	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	47882	37081681	160940749	82	7045											
DLEC1	9940	broad.mit.edu	37	chr3	38101288	38101288	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctacggaaacatcatttGatctccccagaagattacta	13	12	6	10	1	2	3	1	1	1	2	3	4	2	4	2	1	4	1	2	1	5	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:38101288G>A	ENST00000308059.6	+	3	639	c.618G>A	c.(616-618)ttG>ttA	p.L206L	DLEC1_ENST00000346219.3_Silent_p.L206L|DLEC1_ENST00000452631.2_Silent_p.L206L			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	206					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AACATCATTTGATCTCCCCAG	0.478													21	444					0	0	0	0	A	38101288	G	A	38101288	2	1	37	1	0	0	0	0	0	0	0	1	4589	1281	45	2		2	DLEC1	3	38101288	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1019607	38101288	159921142	83	7046											
ZNF197	10168	broad.mit.edu	37	chr3	44684611	44684611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagtttttattctgaagaaGagcctcattttacatcaaag	15	14	6	6	0	3	3	2	1	1	2	3	3	3	3	1	0	2	1	1	0	6	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:44684611G>C	ENST00000396058.1	+	5	2156	c.1989G>C	c.(1987-1989)aaG>aaC	p.K663N	ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.K663N			O14709	ZN197_HUMAN	zinc finger protein 197	663					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TTCTGAAGAAGAGCCTCATTT	0.403													3	95					0	0	0	0	C	44684611	G	C	44684611	3	2	37	1	0	0	0	0	1	0	0	0	17854	933	33	2	2007	2	ZNF197	3	44684611	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	6583323	44684611	153337819	84	7047											
MAP4	4134	broad.mit.edu	37	chr3	47894525	47894525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccagaatgtcatcattaGatgcctggaaaataaaaggt	17	9	9	6	0	2	3	2	0	0	3	2	4	2	4	2	2	1	0	2	2	6	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:47894525G>C	ENST00000426837.2	-	21	6978	c.6891C>G	c.(6889-6891)atC>atG	p.I2297M	MAP4_ENST00000383737.4_Missense_Mutation_p.I811M|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000360240.6_Missense_Mutation_p.I1152M|MAP4_ENST00000441748.2_Intron|MAP4_ENST00000420772.2_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.I887M			P27816	MAP4_HUMAN	microtubule-associated protein 4	1152					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GTCATCATTAGATGCCTGGAA	0.502													6	148					0	0	0	0	C	47894525	G	C	47894525	3	2	37	1	0	0	0	0	1	0	0	0	9327	932	33	2	157	2	MAP4	3	47894525	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	3209914	47894525	150127905	85	7048											
COL7A1	1294	broad.mit.edu	37	chr3	48624640	48624640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctggcgtctgtgtgacaGatgcctcaggaccccgcaca	8	8	11	14	2	2	2	1	1	1	1	2	3	2	3	4	2	2	1	4	2	1	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:48624640G>A	ENST00000328333.8	-	23	3229	c.3122C>T	c.(3121-3123)tCt>tTt	p.S1041F	COL7A1_ENST00000454817.1_Missense_Mutation_p.S1041F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1041	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGTGTGACAGATGCCTCAGG	0.597													3	69					0	0	0	0	A	48624640	G	A	48624640	3	1	37	1	0	0	0	0	1	0	0	0	3734	942	33	2	6096	2	COL7A1	3	48624640	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	730115	48624640	149397790	86	7049											
COL7A1	1294	broad.mit.edu	37	chr3	48626388	48626388	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaacgtcgctggaagcattGaggatctgcagcctcgacac	11	7	12	11	3	1	2	0	1	1	1	3	5	1	4	1	2	4	3	1	2	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:48626388G>A	ENST00000328333.8	-	18	2462	c.2355C>T	c.(2353-2355)ctC>ctT	p.L785L	COL7A1_ENST00000454817.1_Silent_p.L785L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	785	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGAAGCATTGAGGATCTGCA	0.607													8	167					0	0	0	0	A	48626388	G	A	48626388	2	1	37	1	0	0	0	0	0	0	0	1	3734	1277	45	2		2	COL7A1	3	48626388	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1748	48626388	149396042	87	7050											
USP19	10869	broad.mit.edu	37	chr3	49155175	49155175	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctactcccacacgaagcttGacaatcacctcttctgcact	10	10	4	17	1	3	1	1	1	2	0	4	2	4	1	3	0	3	2	3	0	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:49155175G>C	ENST00000453664.1	-	4	705	c.387C>G	c.(385-387)gtC>gtG	p.V129V	USP19_ENST00000434032.2_Silent_p.V129V|USP19_ENST00000417901.1_Silent_p.V129V|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398892.3_Silent_p.V67V|USP19_ENST00000398888.2_Silent_p.V129V|USP19_ENST00000398896.1_5'UTR|USP19_ENST00000398898.2_Silent_p.V67V	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	129	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACGAAGCTTGACAATCACCT	0.527													6	117					0	0	0	0	C	49155175	G	C	49155175	2	2	37	1	0	0	0	0	0	0	0	1	17146	1277	45	2		2	USP19	3	49155175	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	528787	49155175	148867255	88	7051											
CCDC36	339834	broad.mit.edu	37	chr3	49294139	49294139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagataaacttttcaaccagCattaagaatgcctgccaaaa	17	9	6	9	0	1	2	1	0	0	2	1	3	1	2	3	0	5	1	3	0	7	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:49294139C>G	ENST00000438782.1	+	8	1445	c.1209C>G	c.(1207-1209)agC>agG	p.S403R	CCDC36_ENST00000452691.2_Missense_Mutation_p.S403R|CCDC36_ENST00000296449.5_Missense_Mutation_p.S403R			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	403										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TTTCAACCAGCATTAAGAATG	0.448													3	151					0	0	0	0	G	49294139	C	G	49294139	3	3	37	1	0	0	0	0	1	0	0	0	2834	709	25	4	1235	4	CCDC36	3	49294139	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	138964	49294139	148728291	89	7052											
PCBP4	57060	broad.mit.edu	37	chr3	51993286	51993286	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaggggaccgcatggcttGagagctgctggagcttggtg	8	8	17	8	1	0	1	0	1	0	1	0	4	0	3	1	5	3	5	1	5	1	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:51993286G>C	ENST00000461554.1	-	11	990	c.659C>G	c.(658-660)tCa>tGa	p.S220*	PCBP4_ENST00000484633.1_Nonsense_Mutation_p.S177*|PCBP4_ENST00000395014.2_Nonsense_Mutation_p.S241*|PCBP4_ENST00000395013.3_Nonsense_Mutation_p.S60*|PCBP4_ENST00000355852.2_Nonsense_Mutation_p.S220*|PCBP4_ENST00000428823.2_Nonsense_Mutation_p.S177*|PCBP4_ENST00000471622.1_Nonsense_Mutation_p.S220*|PCBP4_ENST00000322099.7_Nonsense_Mutation_p.S220*	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	220						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCATGGCTTGAGAGCTGCTG	0.632													24	49					0	0	0	0	C	51993286	G	C	51993286	4	2	37	1	0	0	0	0	0	1	0	0	11574	1294	45	2	568	2	PCBP4	3	51993286	Nonsense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2699147	51993286	146029144	90	7053											
PHF7	51533	broad.mit.edu	37	chr3	52446916	52446916	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaagactgtaaaagaaaaGaaggaatgccagagattgag	20	6	12	3	0	0	6	0	2	0	4	0	8	0	7	1	1	1	1	1	1	7	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:52446916G>C	ENST00000327906.3	+	2	681	c.21G>C	c.(19-21)aaG>aaC	p.K7N	PHF7_ENST00000478707.1_Missense_Mutation_p.K7N|PHF7_ENST00000347025.2_Missense_Mutation_p.K7N|PHF7_ENST00000482327.1_3'UTR	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	7						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TAAAAGAAAAGAAGGAATGCC	0.413													3	31					0	0	0	0	C	52446916	G	C	52446916	3	2	37	1	0	0	0	0	1	0	0	0	11911	933	33	2	23	2	PHF7	3	52446916	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	453630	52446916	145575514	91	7054											
ADAMTS9	56999	broad.mit.edu	37	chr3	64526833	64526833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggaaaacccagcggccGtgtaatccttccgacattgg	11	8	10	12	3	0	0	0	0	0	0	2	2	2	1	4	3	3	1	4	3	4	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:64526833G>A	ENST00000498707.1	-	36	5801	c.5459C>T	c.(5458-5460)aCg>aTg	p.T1820M	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.T1792M	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1820	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCCAGCGGCCGTGTAATCCTT	0.468													57	101					0	0	0	0	A	64526833	G	A	64526833	3	1	37	1	0	0	0	0	1	0	0	0	273	1145	40	1	364	1	ADAMTS9	3	64526833	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	12079917	64526833	133495597	92	7055											
OR5H6	79295	broad.mit.edu	37	chr3	97983460	97983460	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtaagatgatatctctctCtgaatgcatggtacaatttt	12	15	8	6	0	2	3	0	2	2	1	4	4	2	3	0	1	2	3	0	1	5	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:97983460C>G	ENST00000383696.2	+	1	373	c.332C>G	c.(331-333)tCt>tGt	p.S111C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATATCTCTCTCTGAATGCATG	0.403													57	150					0	0	0	0	G	97983460	C	G	97983460	3	3	37	1	0	0	0	0	1	0	0	0	11234	913	32	2	334	2	OR5H6	3	97983460	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	33456627	97983460	100038970	93	7056											
KIAA1407	57577	broad.mit.edu	37	chr3	113724691	113724691	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattgccaggtgcactcagaGagacattctgaagggaaccc	12	8	11	10	0	2	3	1	1	1	2	2	5	2	4	2	2	3	1	2	2	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:113724691G>C	ENST00000295878.3	-	10	1678	c.1532C>G	c.(1531-1533)tCt>tGt	p.S511C	KIAA1407_ENST00000545063.1_Missense_Mutation_p.S342C	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	511										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGCACTCAGAGAGACATTCTG	0.537													8	458					0	0	0	0	C	113724691	G	C	113724691	3	2	37	1	0	0	0	0	1	0	0	0	8280	942	33	2	1310	2	KIAA1407	3	113724691	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	15741231	113724691	84297739	94	7057											
QTRTD1	79691	broad.mit.edu	37	chr3	113798772	113798772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctcatatctggtgttagtCggccagatgaggtgctcgag	7	11	15	8	2	2	2	1	1	1	1	4	3	2	2	1	4	1	3	1	4	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:113798772C>T	ENST00000281273.4	+	8	1023	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	QTRTD1_ENST00000493014.1_Missense_Mutation_p.R150W|QTRTD1_ENST00000485050.1_Missense_Mutation_p.R268W|QTRTD1_ENST00000479882.1_Missense_Mutation_p.R133W	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	256					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TGGTGTTAGTCGGCCAGATGA	0.428													9	433					0	0	0	0	T	113798772	C	T	113798772	3	4	37	1	0	0	0	0	1	0	0	0	12968	875	31	1	788	1	QTRTD1	3	113798772	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	74081	113798772	84223658	95	7058											
TOPBP1	11073	broad.mit.edu	37	chr3	133347312	133347312	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaagtggctttggggcttCttcctgtccatggaaaataa	9	13	12	7	0	1	1	0	1	1	0	3	2	3	2	2	4	0	2	2	4	4	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:133347312C>G	ENST00000260810.5	-	16	2829	c.2698G>C	c.(2698-2700)Gaa>Caa	p.E900Q		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	900	BRCT 6.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTGGGGCTTCTTCCTGTCCA	0.373								Other conserved DNA damage response genes					4	42					0	0	0	0	G	133347312	C	G	133347312	3	3	37	1	0	0	0	0	1	0	0	0	16464	922	32	2	1922	2	TOPBP1	3	133347312	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	19548540	133347312	64675118	96	7059											
MSL2	55167	broad.mit.edu	37	chr3	135871283	135871283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaagtaaaggatgaatctGagggtttttctgtctcctca	12	13	9	7	0	4	2	1	2	3	0	5	3	4	3	1	2	0	2	1	2	4	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:135871283G>A	ENST00000309993.2	-	2	1172	c.440C>T	c.(439-441)tCa>tTa	p.S147L	MSL2_ENST00000434835.2_Missense_Mutation_p.S73L	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	147					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GGATGAATCTGAGGGTTTTTC	0.403													6	167					0	0	0	0	A	135871283	G	A	135871283	3	1	37	1	0	0	0	0	1	0	0	0	9948	1294	45	2	1297	2	MSL2	3	135871283	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2523971	135871283	62151147	97	7060											
XRN1	54464	broad.mit.edu	37	chr3	142074246	142074246	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacaaggaatactaaccttCtcttgtatagttggctgaaa	15	12	7	7	0	1	1	0	1	1	0	2	2	1	2	1	2	3	3	1	2	8	7			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:142074246C>G	ENST00000264951.4	-	32	3882	c.3765G>C	c.(3763-3765)gaG>gaC	p.E1255D	XRN1_ENST00000392981.2_Missense_Mutation_p.E1255D	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1255					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TACTAACCTTCTCTTGTATAG	0.308													4	199					0	0	0	0	G	142074246	C	G	142074246	3	3	37	1	0	0	0	0	1	0	0	0	17555	912	32	2	1399	2	XRN1	3	142074246	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	6202963	142074246	55948184	98	7061											
PLOD2	5352	broad.mit.edu	37	chr3	145803008	145803008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatttgtcaaaacaacatCtgcatccacactaaagtaat	16	11	5	9	0	2	0	1	0	1	0	3	1	3	1	1	1	3	2	1	1	6	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:145803008C>T	ENST00000282903.5	-	11	1357	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	PLOD2_ENST00000360060.3_Missense_Mutation_p.D394N|PLOD2_ENST00000494950.1_Missense_Mutation_p.D339N|PLOD2_ENST00000461497.1_Missense_Mutation_p.D54N|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	394					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	AAAACAACATCTGCATCCACA	0.284													28	95					0	0	0	0	T	145803008	C	T	145803008	3	4	37	1	0	0	0	0	1	0	0	0	12174	913	32	2	1136	2	PLOD2	3	145803008	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	3728762	145803008	52219422	99	7062											
CPA3	1359	broad.mit.edu	37	chr3	148583121	148583121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatcctgcctgtgggtttGattgctaccactcttgcaat	6	15	8	12	0	2	1	1	1	1	0	3	1	3	1	3	1	4	3	3	1	2	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:148583121G>C	ENST00000296046.3	+	1	79	c.27G>C	c.(25-27)ttG>ttC	p.L9F	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	9					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTGTGGGTTTGATTGCTACCA	0.463													7	160					0	0	0	0	C	148583121	G	C	148583121	3	2	37	1	0	0	0	0	1	0	0	0	3821	1281	45	2	29	2	CPA3	3	148583121	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2780113	148583121	49439309	100	7063											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			31	79					0	0	0	0	A	178936082	G	A	178936082	3	1	37	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	30352961	178936082	19086348	101	7064											
KCNMB3	27094	broad.mit.edu	37	chr3	178984446	178984446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgacttacctcccctggCgcctccggctgccctgaagt	6	9	10	16	2	0	2	0	2	0	0	2	2	2	2	6	2	2	1	6	2	3	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:178984446C>T	ENST00000349697.2	-	1	313	c.53G>A	c.(52-54)cGc>cAc	p.R18H	KCNMB3_ENST00000497599.1_Missense_Mutation_p.R18H	NM_171828.1	NP_741979.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	0					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			CCTCCCCTGGCGCCTCCGGCT	0.587													20	99					0	0	0	0	T	178984446	C	T	178984446	3	4	37	1	0	0	0	0	1	0	0	0	8129	768	27	1	1003	1	KCNMB3	3	178984446	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	48364	178984446	19037984	102	7065											
FXR1	8087	broad.mit.edu	37	chr3	180651167	180651167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcccttacagttgtttttGaaaataagtaagttattttt	12	19	5	5	0	0	1	0	1	0	0	1	1	1	1	1	0	1	4	1	0	6	9			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:180651167G>C	ENST00000357559.4	+	2	481	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	FXR1_ENST00000468861.1_Intron|FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000445140.2_Missense_Mutation_p.E33Q|FXR1_ENST00000480918.1_Missense_Mutation_p.E20Q|FXR1_ENST00000491062.1_Intron	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	33					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGTTGTTTTTGAAAATAAGTA	0.338													25	77					0	0	0	0	C	180651167	G	C	180651167	3	2	37	1	0	0	0	0	1	0	0	0	6163	1291	45	2	103	2	FXR1	3	180651167	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1666721	180651167	17371263	103	7066											
EPHB3	2049	broad.mit.edu	37	chr3	184294725	184294725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggacctgggtggccgggatGacctcctgtacaatgtcatc	7	9	14	11	1	1	1	1	1	0	0	3	3	2	3	4	4	1	1	4	4	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:184294725G>A	ENST00000330394.2	+	5	1560	c.1108G>A	c.(1108-1110)Gac>Aac	p.D370N	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	370	Fibronectin type-III 1.					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)			TGGCCGGGATGACCTCCTGTA	0.597													24	412					0	0	0	0	A	184294725	G	A	184294725	3	1	37	1	0	0	0	0	1	0	0	0	5214	1290	45	2	1126	2	EPHB3	3	184294725	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	3643558	184294725	13727705	104	7067											
C3orf70	285382	broad.mit.edu	37	chr3	184801032	184801032	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctatttttggtgtattgctCtcttttgaaattaaggcatc	8	20	7	6	0	2	1	0	1	2	0	4	1	2	1	0	2	1	3	0	2	4	8			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:184801032C>G	ENST00000335012.2	-	2	706	c.516G>C	c.(514-516)gaG>gaC	p.E172D		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	172										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GTGTATTGCTCTCTTTTGAAA	0.483													17	159					0	0	0	0	G	184801032	C	G	184801032	3	3	37	1	0	0	0	0	1	0	0	0	2262	912	32	2	240	2	C3orf70	3	184801032	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	506307	184801032	13221398	105	7068											
TBCCD1	55171	broad.mit.edu	37	chr3	186274220	186274220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgagcccaagccaatttCtttccagacttgaggcaagc	11	10	9	11	0	1	4	0	3	1	1	2	4	2	4	3	1	3	1	3	1	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:186274220C>G	ENST00000424280.1	-	4	1316	c.837G>C	c.(835-837)aaG>aaC	p.K279N	TBCCD1_ENST00000338733.5_Missense_Mutation_p.K279N|TBCCD1_ENST00000446782.1_Missense_Mutation_p.K183N	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	279					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AAGCCAATTTCTTTCCAGACT	0.353													12	129					0	0	0	0	G	186274220	C	G	186274220	3	3	37	1	0	0	0	0	1	0	0	0	15726	912	32	2	852	2	TBCCD1	3	186274220	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1473188	186274220	11748210	106	7069											
LPP	4026	broad.mit.edu	37	chr3	188123915	188123915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagattccaacaatgtctCacccatcttggctgccaccc	9	10	6	16	0	2	1	1	0	2	1	4	1	3	1	4	1	3	2	4	1	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:188123915C>T	ENST00000312675.4	+	3	253	c.7C>T	c.(7-9)Cac>Tac	p.H3Y	LPP_ENST00000448637.1_Missense_Mutation_p.H3Y|LPP_ENST00000543006.1_Missense_Mutation_p.H3Y	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	3					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		AACAATGTCTCACCCATCTTG	0.468			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								8	707					0	0	0	0	T	188123915	C	T	188123915	3	4	37	1	0	0	0	0	1	0	0	0	8987	826	29	2	9	2	LPP	3	188123915	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1849695	188123915	9898515	107	7070											
PIGG	54872	broad.mit.edu	37	chr4	514999	514999	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacgctgagcttgtccctGagtgcacaagtggcccagta	10	8	12	11	1	0	3	0	2	0	1	1	3	1	3	2	1	2	4	2	1	3	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:514999G>A	ENST00000453061.2	+	7	1375	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L	PIGG_ENST00000504346.1_Silent_p.L334L|PIGG_ENST00000383028.4_Silent_p.L290L|PIGG_ENST00000310340.5_Silent_p.L423L|PIGG_ENST00000296306.7_Intron|PIGG_ENST00000509768.1_Silent_p.L334L|PIGG_ENST00000503111.1_Intron|PIGG_ENST00000536264.1_Silent_p.L301L	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	423					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GCTTGTCCCTGAGTGCACAAG	0.517													7	85					0	0	0	0	A	514999	G	A	514999	2	1	37	1	0	0	0	0	0	0	0	1	11960	1277	45	2		2	PIGG	4	514999	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08		514999	190639277	108	7071											
AFAP1	60312	broad.mit.edu	37	chr4	7780519	7780519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttttcacaacagccgcggGatccgctttctttggctgac	6	12	9	14	3	2	1	1	1	1	0	3	2	3	2	3	2	2	2	3	2	1	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:7780519G>A	ENST00000420658.1	-	14	2139	c.1867C>T	c.(1867-1869)Ccc>Tcc	p.P623S	AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.P539S|AFAP1_ENST00000360265.4_Missense_Mutation_p.P539S|AFAP1_ENST00000382543.3_Missense_Mutation_p.P623S	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	573	Interaction with F-actin (By similarity).					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						ACAGCCGCGGGATCCGCTTTC	0.527													15	147					0	0	0	0	A	7780519	G	A	7780519	3	1	37	1	0	0	0	0	1	0	0	0	353	1174	41	2	597	2	AFAP1	4	7780519	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	7265520	7780519	183373757	109	7072											
DCAF16	54876	broad.mit.edu	37	chr4	17805694	17805694	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccagaactctcatttaggTaactaatattttcttcttcc	10	16	3	12	0	3	1	1	0	3	1	5	1	4	1	3	1	2	1	3	1	5	9			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:17805694T>C	ENST00000382247.1	-	3	1131	c.71A>G	c.(70-72)tAc>tGc	p.Y24C	DCAF16_ENST00000536863.1_Missense_Mutation_p.Y24C	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	24						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						CTCATTTAGGTAACTAATATT	0.438													6	72					0	0	0	0	C	17805694	T	C	17805694	3	2	37	1	0	0	0	0	1	0	0	0	4301	1638	57	5	583	5	DCAF16	4	17805694	Missense_Mutation	SNP	T	TCGA-BB-4223-01A-01D-1434-08	10025175	17805694	173348582	110	7073											
APBB2	323	broad.mit.edu	37	chr4	41016054	41016054	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcagaagttatgttgatGactgcagtggggctcaggtt	8	14	13	6	0	2	3	2	2	1	1	3	3	2	3	0	3	1	5	0	3	2	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:41016054G>A	ENST00000295974.8	-	6	1010	c.381C>T	c.(379-381)gtC>gtT	p.V127V	APBB2_ENST00000508593.1_Silent_p.V127V|APBB2_ENST00000513140.1_Silent_p.V127V|APBB2_ENST00000506352.1_Silent_p.V127V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	127					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|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						TTATGTTGATGACTGCAGTGG	0.527													6	175					0	0	0	0	A	41016054	G	A	41016054	2	1	37	1	0	0	0	0	0	0	0	1	762	1277	45	2		2	APBB2	4	41016054	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	23210360	41016054	150138222	111	7074											
ANKRD17	26057	broad.mit.edu	37	chr4	73951068	73951068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggggtgccccaggtcCgtacatctgacctcctgaaa	9	8	10	14	1	1	2	0	2	1	0	4	2	4	2	6	3	2	1	6	3	3	1	rs139173196		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:73951068C>T	ENST00000358602.4	-	30	7173	c.7057G>A	c.(7057-7059)Gga>Aga	p.G2353R	ANKRD17_ENST00000509867.2_Missense_Mutation_p.G2240R|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G2102R	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2353					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCCCAGGTCCGTACATCTGA	0.453													18	279					0	0	0	0	T	73951068	C	T	73951068	3	4	37	1	0	0	0	0	1	0	0	0	646	661	23	1	774	1	ANKRD17	4	73951068	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	32935014	73951068	117203208	112	7075											
PDLIM5	10611	broad.mit.edu	37	chr4	95496979	95496979	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccttcacccgtggctgcCgtcactcctcccctgttcgc	2	11	7	21	3	2	0	2	0	0	0	6	0	5	0	7	1	1	2	7	1	0	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:95496979C>T	ENST00000317968.4	+	5	640	c.504C>T	c.(502-504)gcC>gcT	p.A168A	PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000542407.1_Silent_p.A46A|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000437932.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	168					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CCGTGGCTGCCGTCACTCCTC	0.547													7	218					0	0	0	0	T	95496979	C	T	95496979	2	4	37	1	0	0	0	0	0	0	0	1	11754	639	23	1		1	PDLIM5	4	95496979	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	21545911	95496979	95657297	113	7076											
BANK1	55024	broad.mit.edu	37	chr4	102993520	102993520	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtaaggaaactgcccacaAtgaaaataagttttataatg	18	10	8	5	0	0	1	0	1	0	0	0	2	0	2	1	2	2	2	1	2	8	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:102993520A>G	ENST00000504592.1	+	19	2634	c.2216A>G	c.(2215-2217)aAt>aGt	p.N739S	BANK1_ENST00000444316.2_Missense_Mutation_p.N724S|BANK1_ENST00000322953.4_Missense_Mutation_p.N754S|BANK1_ENST00000508653.1_Missense_Mutation_p.N621S|BANK1_ENST00000428908.1_Missense_Mutation_p.N621S			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	754					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)		ACTGCCCACAATGAAAATAAG	0.254													6	215					0	0	0	0	G	102993520	A	G	102993520	3	3	37	1	0	0	0	0	1	0	0	0	1313	101	4	5	2319	5	BANK1	4	102993520	Missense_Mutation	SNP	A	TCGA-BB-4223-01A-01D-1434-08	7496541	102993520	88160756	114	7077											
GLRB	2743	broad.mit.edu	37	chr4	158073943	158073943	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccaaagtttcctatgtGaaggctcttgatgtttggct	7	16	9	9	0	1	2	0	2	1	0	3	2	3	2	2	2	0	4	2	2	3	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:158073943G>T	ENST00000264428.4	+	9	1248	c.978G>T	c.(976-978)gtG>gtT	p.V326V	GLRB_ENST00000541722.1_Intron|GLRB_ENST00000509282.1_Silent_p.V326V|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	326					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTCCTATGTGAAGGCTCTTG	0.488													8	209					0.000157383	0.000162391	1	0	T	158073943	G	T	158073943	2	4	37	1	0	0	0	0	0	0	0	1	6509	1277	45	2		2	GLRB	4	158073943	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	55080423	158073943	33080333	115	7078											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184367348	184367348	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacagaacgtgcatcagctCagcaggaaaacagttcaacg	16	5	10	10	2	3	2	3	0	0	2	3	3	3	3	0	1	6	4	0	1	4	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:184367348C>T	ENST00000504169.1	+	3	718	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	171					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGCATCAGCTCAGCAGGAAAA	0.468													5	149					0	0	0	0	T	184367348	C	T	184367348	4	4	37	1	0	0	0	0	0	1	0	0	3191	827	29	2	521	2	CDKN2AIP	4	184367348	Nonsense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	26293405	184367348	6786928	116	7079											
SNX25	83891	broad.mit.edu	37	chr4	186272652	186272652	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagcactttatgccttcttGagcccttctcctgactacct	7	14	6	14	0	2	2	0	2	2	0	3	3	2	2	4	0	4	1	4	0	3	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:186272652G>C	ENST00000504273.1	+	14	2157	c.1863G>C	c.(1861-1863)ttG>ttC	p.L621F	SNX25_ENST00000264694.8_Missense_Mutation_p.L621F|SNX25_ENST00000512853.1_Intron			Q9H3E2	SNX25_HUMAN	sorting nexin 25	621	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		ATGCCTTCTTGAGCCCTTCTC	0.418													18	274					0	0	0	0	C	186272652	G	C	186272652	3	2	37	1	0	0	0	0	1	0	0	0	14984	1281	45	2	1913	2	SNX25	4	186272652	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1905304	186272652	4881624	117	7080											
DNAH5	1767	broad.mit.edu	37	chr5	13901452	13901452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattataggtttggcttctGccgtgcttagcacagctggg	7	13	13	8	1	1	0	0	0	1	0	1	1	1	0	1	3	4	5	1	3	4	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:13901452G>A	ENST00000265104.4	-	14	2065	c.1961C>T	c.(1960-1962)gCa>gTa	p.A654V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	654	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGGCTTCTGCCGTGCTTAG	0.562									Kartagener syndrome				4	92					0	0	0	0	A	13901452	G	A	13901452	3	1	37	1	0	0	0	0	1	0	0	0	4641	1319	46	4	12177	4	DNAH5	5	13901452	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08		13901452	167013808	118	7081											
CDH9	1007	broad.mit.edu	37	chr5	26890572	26890572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacagtgatgttatgccaaGgagatgattcccggtcaagg	12	10	12	7	1	1	3	1	2	0	1	2	4	2	3	2	3	2	1	2	3	4	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:26890572G>A	ENST00000231021.4	-	8	1527	c.1355C>T	c.(1354-1356)cCt>cTt	p.P452L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	452	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTTATGCCAAGGAGATGATTC	0.398													10	225					0	0	0	0	A	26890572	G	A	26890572	3	1	37	1	0	0	0	0	1	0	0	0	3146	1000	35	4	1034	4	CDH9	5	26890572	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	12989120	26890572	154024688	119	7082											
RAI14	26064	broad.mit.edu	37	chr5	34814701	34814701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttagttgagtgatgtctCttccccaagatcaataactt	10	17	6	8	0	2	3	1	2	1	1	4	3	3	3	2	0	1	1	2	0	4	7			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:34814701C>T	ENST00000265109.3	+	12	1153	c.866C>T	c.(865-867)tCt>tTt	p.S289F	RAI14_ENST00000506376.1_Missense_Mutation_p.S281F|RAI14_ENST00000503673.1_Missense_Mutation_p.S289F|RAI14_ENST00000512629.1_Missense_Mutation_p.S260F|RAI14_ENST00000515799.1_Missense_Mutation_p.S292F|RAI14_ENST00000428746.2_Missense_Mutation_p.S289F|RAI14_ENST00000397449.1_Missense_Mutation_p.S282F	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	289						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGTGATGTCTCTTCCCCAAGA	0.363													7	197					0	0	0	0	T	34814701	C	T	34814701	3	4	37	1	0	0	0	0	1	0	0	0	13090	913	32	2	973	2	RAI14	5	34814701	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	7924129	34814701	146100559	120	7083											
MAP1B	4131	broad.mit.edu	37	chr5	71494638	71494638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttgccacagttcctcttCtccaccaatagatgcagcat	11	11	5	14	0	2	1	0	0	2	1	4	1	3	1	4	0	4	3	4	0	3	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:71494638C>T	ENST00000296755.7	+	5	5754	c.5456C>T	c.(5455-5457)tCt>tTt	p.S1819F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1819						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTTCCTCTTCTCCACCAATA	0.468													6	120					0	0	0	0	T	71494638	C	T	71494638	3	4	37	1	0	0	0	0	1	0	0	0	9297	913	32	2	5474	2	MAP1B	5	71494638	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	36679937	71494638	109420622	121	7084											
COL4A3BP	10087	broad.mit.edu	37	chr5	74712757	74712757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccattagttcaatacaatGagaaagtgttgcaaggattc	16	11	8	6	0	1	1	1	1	0	1	2	3	1	2	1	1	3	3	1	1	7	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:74712757G>A	ENST00000380494.5	-	8	1458	c.1165C>T	c.(1165-1167)Cat>Tat	p.H389Y	COL4A3BP_ENST00000405807.4_Missense_Mutation_p.H261Y|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.H261Y	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	261	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TCAATACAATGAGAAAGTGTT	0.353													6	272					0	0	0	0	A	74712757	G	A	74712757	3	1	37	1	0	0	0	0	1	0	0	0	3722	1290	45	2	1137	2	COL4A3BP	5	74712757	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	3218119	74712757	106202503	122	7085											
FNIP1	96459	broad.mit.edu	37	chr5	131007934	131007934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagcaggcacaatcttatCtggaggttttttttccacaa	11	14	8	8	0	2	1	0	1	2	0	3	2	3	2	1	3	1	3	1	3	4	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:131007934C>T	ENST00000307968.7	-	13	2118	c.2119G>A	c.(2119-2121)Gat>Aat	p.D707N	FNIP1_ENST00000307954.8_Missense_Mutation_p.D690N|FNIP1_ENST00000510461.1_Missense_Mutation_p.D735N|FNIP1_ENST00000514667.1_Intron	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ACAATCTTATCTGGAGGTTTT	0.448													10	429					0	0	0	0	T	131007934	C	T	131007934	3	4	37	1	0	0	0	0	1	0	0	0	6020	913	32	2	1317	2	FNIP1	5	131007934	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	56295177	131007934	49907326	123	7086											
TGFBI	7045	broad.mit.edu	37	chr5	135391456	135391456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgatggaccgggtgctgaccCccccaatggggactgtcatg	7	7	14	13	2	1	1	1	1	0	0	1	4	1	3	4	4	1	1	4	4	1	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:135391456C>A	ENST00000442011.2	+	11	1659	c.1498C>A	c.(1498-1500)Ccc>Acc	p.P500T	TGFBI_ENST00000305126.8_Missense_Mutation_p.P500T	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	500					angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGCTGACCCCCCCAATGGG	0.587													29	51					5.45727e-16	5.73519e-16	1	0	A	135391456	C	A	135391456	3	1	37	1	0	0	0	0	1	0	0	0	15914	623	22	4	1540	4	TGFBI	5	135391456	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	4383522	135391456	45523804	124	7087											
FAM13B	51306	broad.mit.edu	37	chr5	137354085	137354085	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaagaaggctaatagctgaGggaacatctgcttccttaac	13	10	9	9	0	1	2	0	1	1	1	2	3	2	3	1	2	4	3	1	2	6	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:137354085G>A	ENST00000033079.3	-	4	727	c.276C>T	c.(274-276)ccC>ccT	p.P92P	FAM13B_ENST00000425075.2_5'UTR|FAM13B_ENST00000420893.2_Silent_p.P92P	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	92	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TAATAGCTGAGGGAACATCTG	0.433													10	202					0	0	0	0	A	137354085	G	A	137354085	2	1	37	1	0	0	0	0	0	0	0	1	5494	987	35	4		4	FAM13B	5	137354085	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1962629	137354085	43561175	125	7088											
CTNNA1	1495	broad.mit.edu	37	chr5	138118956	138118956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttttggctgcatctgttGaacaagcaactgagaatttc	11	14	9	7	0	1	2	0	2	1	1	2	3	1	2	0	1	4	5	0	1	4	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:138118956G>A	ENST00000302763.7	+	3	286	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	CTNNA1_ENST00000518825.1_Missense_Mutation_p.E66K|CTNNA1_ENST00000355078.5_Intron	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	66	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCATCTGTTGAACAAGCAAC	0.433													7	197					0	0	0	0	A	138118956	G	A	138118956	3	1	37	1	0	0	0	0	1	0	0	0	4044	1291	45	2	202	2	CTNNA1	5	138118956	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	764871	138118956	42796304	126	7089											
PCDHA10	56139	broad.mit.edu	37	chr5	140237154	140237154	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcgctgtcgagctacgtGtcggtgcacgcggagagcgg	5	7	17	12	8	0	1	0	0	0	1	3	3	0	1	0	3	4	4	0	3	1	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:140237154G>T	ENST00000307360.5	+	1	1521	c.1521G>T	c.(1519-1521)gtG>gtT	p.V507V	PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.V507V|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCTACGTGTCGGTGCACG	0.692													9	237					7.48243e-07	7.79134e-07	1	0	T	140237154	G	T	140237154	2	4	37	1	0	0	0	0	0	0	0	1	11591	1364	48	4		4	PCDHA10	5	140237154	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2118198	140237154	40678106	127	7090											
PCDHB16	57717	broad.mit.edu	37	chr5	140563086	140563086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttacgtcttatgaagtgCgcatcaaagccacagatggg	11	10	12	8	2	2	2	1	1	1	1	2	2	2	2	1	2	3	2	1	2	4	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:140563086C>T	ENST00000361016.2	+	1	2107	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		318	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTATGAAGTGCGCATCAAAGC	0.473													12	183					0	0	0	0	T	140563086	C	T	140563086	3	4	37	1	0	0	0	0	1	0	0	0	11612	768	27	1	954	1	PCDHB16	5	140563086	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	325932	140563086	40352174	128	7091											
ARAP3	64411	broad.mit.edu	37	chr5	141041787	141041787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcaggctgcgggcacgagCgccccctttccggtatacac	6	8	11	16	4	1	0	1	0	1	0	3	1	2	0	3	3	3	3	3	3	2	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:141041787C>T	ENST00000239440.4	-	20	2901	c.2836G>A	c.(2836-2838)Gct>Act	p.A946T	ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Missense_Mutation_p.A608T|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	946	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGGGCACGAGCGCCCCCTTTC	0.642													8	318					0	0	0	0	T	141041787	C	T	141041787	3	4	37	1	0	0	0	0	1	0	0	0	842	768	27	1	1854	1	ARAP3	5	141041787	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	478701	141041787	39873473	129	7092											
ARAP3	64411	broad.mit.edu	37	chr5	141059994	141059994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtcggaacgtgtctgcataCtgctccaggtgcaccgtggc	6	9	13	13	4	1	0	0	0	1	0	3	1	2	1	2	3	5	3	2	3	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:141059994C>G	ENST00000239440.4	-	2	125	c.60G>C	c.(58-60)caG>caC	p.Q20H	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	20	SAM.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGTCTGCATACTGCTCCAGGT	0.677													5	121					0	0	0	0	G	141059994	C	G	141059994	3	3	37	1	0	0	0	0	1	0	0	0	842	564	20	4	4702	4	ARAP3	5	141059994	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	18207	141059994	39855266	130	7093											
HAVCR2	84868	broad.mit.edu	37	chr5	156522384	156522384	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatccctgctccgatgtaGatgcctattctgatggttgc	7	13	10	11	1	1	3	0	1	1	2	3	4	3	3	3	1	3	3	3	1	2	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:156522384G>A	ENST00000307851.4	-	5	1339	c.609C>T	c.(607-609)atC>atT	p.I203I	HAVCR2_ENST00000522593.1_Silent_p.I175I	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	203						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCCGATGTAGATGCCTATTC	0.453													5	226					0	0	0	0	A	156522384	G	A	156522384	2	1	37	1	0	0	0	0	0	0	0	1	7024	932	33	2		2	HAVCR2	5	156522384	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	15462390	156522384	24392876	131	7094											
CNOT6	57472	broad.mit.edu	37	chr5	179998378	179998378	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcatggtttcaagttacaGagtgcctatgagagtggcct	10	12	11	8	0	2	2	2	1	0	2	2	3	2	2	2	2	2	2	2	2	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:179998378G>C	ENST00000393356.1	+	13	1831	c.1407G>C	c.(1405-1407)caG>caC	p.Q469H	CNOT6_ENST00000261951.4_Missense_Mutation_p.Q469H			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	469					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TCAAGTTACAGAGTGCCTATG	0.413													3	163					0	0	0	0	C	179998378	G	C	179998378	3	2	37	1	0	0	0	0	1	0	0	0	3652	933	33	2	1445	2	CNOT6	5	179998378	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	23475994	179998378	916882	132	7095											
RPP40	10799	broad.mit.edu	37	chr6	4996630	4996630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggtacttggaaaaatatGacatcattgtcgattcttct	11	17	7	6	1	3	1	1	1	2	0	4	3	3	2	0	2	1	1	0	2	4	7			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:4996630G>A	ENST00000380051.2	-	6	628	c.584C>T	c.(583-585)tCa>tTa	p.S195L	RPP40_ENST00000319533.5_Missense_Mutation_p.S172L|RPP40_ENST00000464646.1_Missense_Mutation_p.S135L	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	195					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GGAAAAATATGACATCATTGT	0.458													5	130					0	0	0	0	A	4996630	G	A	4996630	3	1	37	1	0	0	0	0	1	0	0	0	13699	1294	45	2	519	2	RPP40	6	4996630	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08		4996630	166118437	133	7096											
DSP	1832	broad.mit.edu	37	chr6	7569567	7569567	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccactggccgtggacctctCttgcaagtaagtcatccaag	9	9	9	14	1	2	0	1	0	1	0	4	1	3	1	4	2	1	2	4	2	3	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:7569567C>G	ENST00000379802.3	+	12	1909	c.1568C>G	c.(1567-1569)tCt>tGt	p.S523C	DSP_ENST00000418664.2_Missense_Mutation_p.S523C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	523	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGGACCTCTCTTGCAAGTAA	0.572													6	173					0	0	0	0	G	7569567	C	G	7569567	3	3	37	1	0	0	0	0	1	0	0	0	4817	913	32	2	1614	2	DSP	6	7569567	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	2572937	7569567	163545500	134	7097											
DSP	1832	broad.mit.edu	37	chr6	7572178	7572178	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcaagaaacatggatgctGatggagctgcagaagattcg	15	7	13	6	1	0	4	0	1	0	3	1	6	0	6	0	2	5	4	0	2	4	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:7572178G>A	ENST00000379802.3	+	15	2348	c.2007G>A	c.(2005-2007)ctG>ctA	p.L669L	DSP_ENST00000418664.2_Silent_p.L669L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	669	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CATGGATGCTGATGGAGCTGC	0.458													6	118					0	0	0	0	A	7572178	G	A	7572178	2	1	37	1	0	0	0	0	0	0	0	1	4817	1277	45	2		2	DSP	6	7572178	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2611	7572178	163542889	135	7098											
SYCP2L	221711	broad.mit.edu	37	chr6	10911091	10911091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtgtattgctgcttttgctGatgagcatgaggtatgttca	7	16	12	6	1	1	3	1	3	0	0	1	3	1	3	0	1	4	7	0	1	2	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:10911091G>A	ENST00000283141.6	+	12	1203	c.907G>A	c.(907-909)Gat>Aat	p.D303N	SYCP2L_ENST00000543878.1_Missense_Mutation_p.D144N|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	303						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGCTTTTGCTGATGAGCATGA	0.408													126	225					0	0	0	0	A	10911091	G	A	10911091	3	1	37	1	0	0	0	0	1	0	0	0	15524	1290	45	2	953	2	SYCP2L	6	10911091	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	3338913	10911091	160203976	136	7099											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158465	26158465	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcggtgactaaggctcAgaagaaggacgggaagaagc	15	3	17	6	2	1	4	1	1	0	3	1	7	1	6	0	5	1	1	0	5	6	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:26158465A>T	ENST00000289316.2	+	1	92	c.68A>T	c.(67-69)cAg>cTg	p.Q23L	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.Q23L	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	23					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACTAAGGCTCAGAAGAAGGAC	0.532													11	303					0	0	0	0	T	26158465	A	T	26158465	3	4	37	1	0	0	0	0	1	0	0	0	7193	188	7	5	70	5	HIST1H2BD	6	26158465	Missense_Mutation	SNP	A	TCGA-BB-4223-01A-01D-1434-08	15247374	26158465	144956602	137	7100											
HIST1H2BH	8345	broad.mit.edu	37	chr6	26251947	26251947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggcggtgaccaaggcgcaGaagaaggatggcaagaagcg	15	2	17	7	3	0	4	0	1	0	3	0	5	0	5	1	5	1	2	1	5	6	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:26251947G>C	ENST00000356350.2	+	1	69	c.69G>C	c.(67-69)caG>caC	p.Q23H		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	23					nucleosome assembly	nucleosome|nucleus	DNA binding	p.Q23H(1)|p.Q23Q(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CCAAGGCGCAGAAGAAGGATG	0.552													13	233					0	0	0	0	C	26251947	G	C	26251947	3	2	37	1	0	0	0	0	1	0	0	0	7197	933	33	2	71	2	HIST1H2BH	6	26251947	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	93482	26251947	144863120	138	7101											
TAP1	6890	broad.mit.edu	37	chr6	32818145	32818145	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacagcctccttctggttGagtgtctttatttcttgcag	5	16	9	11	0	3	1	0	1	3	0	4	1	4	1	3	1	2	2	3	1	1	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:32818145G>C	ENST00000354258.4	-	5	1541	c.1380C>G	c.(1378-1380)ctC>ctG	p.L460L	TAP1_ENST00000425148.2_Silent_p.L199L|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	460	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CCTTCTGGTTGAGTGTCTTTA	0.512													3	123					0	0	0	0	C	32818145	G	C	32818145	2	2	37	1	0	0	0	0	0	0	0	1	15641	1277	45	2		2	TAP1	6	32818145	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	6566198	32818145	138296922	139	7102											
SLC26A8	116369	broad.mit.edu	37	chr6	35927554	35927554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtaattgagctgcagcactgGaagattttcaccccaggaat	12	10	10	9	0	1	2	1	1	0	1	1	4	1	4	2	2	3	4	2	2	3	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:35927554G>C	ENST00000490799.1	-	15	2021	c.1668C>G	c.(1666-1668)ttC>ttG	p.F556L	SLC26A8_ENST00000355574.2_Missense_Mutation_p.F556L|SLC26A8_ENST00000394602.2_Missense_Mutation_p.F451L	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	556	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGCAGCACTGGAAGATTTTCA	0.393													4	164					0	0	0	0	C	35927554	G	C	35927554	3	2	37	1	0	0	0	0	1	0	0	0	14611	1165	41	2	1268	2	SLC26A8	6	35927554	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	3109409	35927554	135187513	140	7103											
ZFAND3	60685	broad.mit.edu	37	chr6	37897761	37897761	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caagactatgaatctctgttCcaaatgctttgctggtaagt	11	14	8	8	0	1	2	0	1	1	1	3	2	2	2	1	1	2	4	1	1	5	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:37897761C>G	ENST00000287218.4	+	2	545	c.98C>G	c.(97-99)tCc>tGc	p.S33C	ZFAND3_ENST00000373391.2_Missense_Mutation_p.S33C	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	33							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AATCTCTGTTCCAAATGCTTT	0.303													6	237					0	0	0	0	G	37897761	C	G	37897761	3	3	37	1	0	0	0	0	1	0	0	0	17724	855	30	2	104	2	ZFAND3	6	37897761	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1970207	37897761	133217306	141	7104											
DNAH8	1769	broad.mit.edu	37	chr6	38950169	38950169	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaatattccctacgaattCaattctgctgacttttcagc	10	15	6	10	1	3	1	2	1	1	0	4	3	4	2	1	1	3	1	1	1	5	7			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:38950169C>T	ENST00000359357.3	+	84	12485	c.12231C>T	c.(12229-12231)ttC>ttT	p.F4077F	DNAH8_ENST00000441566.1_Silent_p.F4041F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTACGAATTCAATTCTGCTG	0.353													10	277					0	0	0	0	T	38950169	C	T	38950169	2	4	37	1	0	0	0	0	0	0	0	1	4643	825	29	2		2	DNAH8	6	38950169	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1052408	38950169	132164898	142	7105											
PPP2R5D	5528	broad.mit.edu	37	chr6	42978724	42978724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagaggactgtggagactGaggctgttcaggtgggaggg	9	8	20	4	0	1	4	1	2	0	2	1	7	1	6	0	6	0	2	0	6	1	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:42978724G>A	ENST00000485511.1	+	15	1839	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E546K|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E448K|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E522K	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	554					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGTGGAGACTGAGGCTGTTCA	0.557													8	193					0	0	0	0	A	42978724	G	A	42978724	3	1	37	1	0	0	0	0	1	0	0	0	12471	1291	45	2	1718	2	PPP2R5D	6	42978724	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	4028555	42978724	128136343	143	7106											
TTBK1	84630	broad.mit.edu	37	chr6	43222389	43222389	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgggggatgtgcggccCgtgagtaccgtcggggcggg	5	5	20	11	6	0	1	0	1	0	0	1	2	0	2	3	6	2	1	3	6	1	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:43222389C>T	ENST00000259750.4	+	6	659	c.576_splice	c.e6+1	p.P192_splice	TTBK1_ENST00000304139.5_Splice_Site_p.P141_splice	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	192	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ATGTGCGGCCCGTGAGTACCG	0.627													6	111					0	0	0	0	T	43222389	C	T	43222389	5	4	37	1	0	0	0	0	0	0	1	0	16772	666	23	1	594	1	TTBK1	6	43222389	Splice_Site	SNP	C	TCGA-BB-4223-01A-01D-1434-08	243665	43222389	127892678	144	7107											
TCTE1	202500	broad.mit.edu	37	chr6	44254175	44254175	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtagttctcactgtctatCaggttggcggtcacagccag	8	11	11	11	1	4	0	3	0	2	0	5	0	4	0	1	3	1	3	1	3	2	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:44254175C>G	ENST00000371505.4	-	3	494	c.372G>C	c.(370-372)ctG>ctC	p.L124L	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	124										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACTGTCTATCAGGTTGGCGG	0.592													10	311					0	0	0	0	G	44254175	C	G	44254175	2	3	37	1	0	0	0	0	0	0	0	1	15811	813	29	2		2	TCTE1	6	44254175	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1031786	44254175	126860892	145	7108											
CDC5L	988	broad.mit.edu	37	chr6	44371637	44371637	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagagaggagttgattatAatgccgaaatcccatttgaa	15	10	11	5	1	0	3	0	2	0	1	1	7	1	5	2	2	1	1	2	2	5	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:44371637A>T	ENST00000371477.3	+	6	930	c.631A>T	c.(631-633)Aat>Tat	p.N211Y		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	211					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGTTGATTATAATGCCGAAAT	0.393													64	64					0	0	0	0	T	44371637	A	T	44371637	3	4	37	1	0	0	0	0	1	0	0	0	3111	362	13	5	653	5	CDC5L	6	44371637	Missense_Mutation	SNP	A	TCGA-BB-4223-01A-01D-1434-08	117462	44371637	126743430	146	7109											
PLA2G7	7941	broad.mit.edu	37	chr6	46673033	46673033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaaaattctggtggactGaacccctaaaagagaacaag	17	6	9	9	0	1	2	0	1	1	1	1	4	1	3	2	2	3	1	2	2	7	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:46673033G>A	ENST00000274793.7	-	11	1242	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	PLA2G7_ENST00000537365.1_Missense_Mutation_p.S349L	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	349					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			CTGGTGGACTGAACCCCTAAA	0.333													4	70					0	0	0	0	A	46673033	G	A	46673033	3	1	37	1	0	0	0	0	1	0	0	0	12081	1294	45	2	287	2	PLA2G7	6	46673033	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2301396	46673033	124442034	147	7110											
DST	667	broad.mit.edu	37	chr6	56357812	56357812	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttagggtctgttcagcctGagtaagccagttgatgaagt	10	13	12	6	0	2	3	1	3	1	0	2	3	2	3	2	1	2	3	2	1	3	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:56357812G>A	ENST00000370754.5	-	84	20376	c.20377C>T	c.(20377-20379)Cag>Tag	p.Q6793*	DST_ENST00000421834.2_Nonsense_Mutation_p.Q4527*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q4418*|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.Q4201*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q6289*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q6504*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q6615*			Q03001	DYST_HUMAN	dystonin	6613					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTTCAGCCTGAGTAAGCCAG	0.428													5	37					0	0	0	0	A	56357812	G	A	56357812	4	1	37	1	0	0	0	0	0	1	0	0	4819	1299	45	2	2994	2	DST	6	56357812	Nonsense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	9684779	56357812	114757255	148	7111											
DST	667	broad.mit.edu	37	chr6	56513371	56513371	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctacagtgacactaaccttCagttctacaggattattagg	12	13	7	9	0	3	1	1	1	2	0	3	2	3	2	1	2	3	1	1	2	5	7			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:56513371C>G	ENST00000370754.5	-	12	1451	c.1452G>C	c.(1450-1452)ctG>ctC	p.L484L	DST_ENST00000421834.2_Silent_p.L306L|DST_ENST00000370788.2_Silent_p.L306L|DST_ENST00000312431.6_Silent_p.L306L|DST_ENST00000361203.3_Silent_p.L306L|DST_ENST00000370769.4_Silent_p.L306L			Q03001	DYST_HUMAN	dystonin	306					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACTAACCTTCAGTTCTACAG	0.333													3	20					0	0	0	0	G	56513371	C	G	56513371	2	3	37	1	0	0	0	0	0	0	0	1	4819	841	29	2		2	DST	6	56513371	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	155559	56513371	114601696	149	7112											
KHDC1	80759	broad.mit.edu	37	chr6	73952217	73952217	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccaccacggcttcttgctGagagcactcgttcccatgtc	6	11	9	15	2	1	1	0	1	1	1	5	2	3	1	3	1	2	4	3	1	0	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:73952217G>A	ENST00000423730.3	-	2	459	c.24C>T	c.(22-24)ctC>ctT	p.L8L	KHDC1_ENST00000257765.5_Silent_p.L8L|KHDC1_ENST00000370384.3_Silent_p.L81L																							GCTTCTTGCTGAGAGCACTCG	0.527													11	229					0	0	0	0	A	73952217	G	A	73952217	2	1	37	1	0	0	0	0	0	0	0	1	8196	1277	45	2		2	KHDC1	6	73952217	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	17438846	73952217	97162850	150	7113											
PHIP	55023	broad.mit.edu	37	chr6	79787178	79787178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctcaccagattctggtagGtcctgggatgctccttcccg	5	12	11	13	1	2	1	1	0	2	1	6	2	5	2	4	3	1	2	4	3	1	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:79787178G>A	ENST00000275034.4	-	4	343	c.176C>T	c.(175-177)aCc>aTc	p.T59I		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	59					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATTCTGGTAggtcctgggatg	0.577													8	171					0	0	0	0	A	79787178	G	A	79787178	3	1	37	1	0	0	0	0	1	0	0	0	11914	1261	44	4	5437	4	PHIP	6	79787178	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	5834961	79787178	91327889	151	7114											
SIM1	6492	broad.mit.edu	37	chr6	100901696	100901696	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagggggctggtccgacttGagtggccccacgcctcgccg	4	6	15	16	4	0	1	0	1	0	0	2	2	1	1	6	4	0	1	6	4	0	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:100901696G>C	ENST00000369208.3	-	3	982	c.200C>G	c.(199-201)tCa>tGa	p.S67*	SIM1_ENST00000262901.4_Nonsense_Mutation_p.S67*			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	67					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGTCCGACTTGAGTGGCCCCA	0.617													52	106					0	0	0	0	C	100901696	G	C	100901696	4	2	37	1	0	0	0	0	0	1	0	0	14411	1294	45	2	2140	2	SIM1	6	100901696	Nonsense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	21114518	100901696	70213371	152	7115											
SOBP	55084	broad.mit.edu	37	chr6	107956425	107956425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggccaaaaagctgatgggcGaggaggccctggcggggggc	8	3	20	10	3	0	1	0	1	0	0	0	3	0	2	2	8	1	1	2	8	2	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:107956425G>A	ENST00000317357.5	+	6	3036	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	793							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCTGATGGGCGAGGAGGCCCT	0.632													7	162					0	0	0	0	A	107956425	G	A	107956425	3	1	37	1	0	0	0	0	1	0	0	0	15000	1059	37	1	2399	1	SOBP	6	107956425	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	7054729	107956425	63158642	153	7116											
PTPRK	5796	broad.mit.edu	37	chr6	128291404	128291404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtactccaaagctacatCatagcagaaacggtattgct	14	9	8	10	1	1	1	1	0	0	1	2	1	2	1	1	2	6	5	1	2	6	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:128291404C>T	ENST00000368227.3	-	31	4708	c.4342G>A	c.(4342-4344)Gat>Aat	p.D1448N	PTPRK_ENST00000368207.3_Missense_Mutation_p.D1463N|PTPRK_ENST00000368213.5_Missense_Mutation_p.D1437N|PTPRK_ENST00000368226.4_Missense_Mutation_p.D1431N|PTPRK_ENST00000532331.1_Missense_Mutation_p.D1453N|PTPRK_ENST00000368210.3_Missense_Mutation_p.D1449N|PTPRK_ENST00000368215.3_Missense_Mutation_p.D1430N			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1430					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AAAGCTACATCATAGCAGAAA	0.383													5	106					0	0	0	0	T	128291404	C	T	128291404	3	4	37	1	0	0	0	0	1	0	0	0	12887	826	29	2	35	2	PTPRK	6	128291404	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	20334979	128291404	42823663	154	7117											
CNKSR3	154043	broad.mit.edu	37	chr6	154831247	154831248	+	Translation_Start_Site	INS	-	-	G																															ccacttggtcacgggttccaINStggtaaaccgcttcgcctct																										TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:154831247_154831248insG	ENST00000607772.1	-	0	545_546					NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3						negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CACGGGTTCCATGGTAAACCGC	0.683													81	241	---	---	---	---					G	154831248	-	G	154831247	6	5	37	1	0	1	1	0	0	0	0	0	3638	217	8	0		0	CNKSR3	6	154831247	Translation_Start_Site	INS	-	TCGA-BB-4223-01A-01D-1434-08	26539843	154831247	16283820	155	7118											
TIAM2	26230	broad.mit.edu	37	chr6	155450635	155450635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggtgttgcctactccaCgcacaggacaaatgccccag	11	6	10	14	1	0	1	0	0	0	1	1	2	1	2	4	2	3	2	4	2	2	2	rs141887143		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:155450635C>T	ENST00000461783.3	+	6	1551	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TIAM2_ENST00000529824.2_Missense_Mutation_p.T93M|TIAM2_ENST00000456144.1_Missense_Mutation_p.T93M|TIAM2_ENST00000360366.4_Missense_Mutation_p.T93M|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.T93M			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	93					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCCTACTCCACGCACAGGACA	0.552													5	76					0	0	0	0	T	155450635	C	T	155450635	3	4	37	1	0	0	0	0	1	0	0	0	15985	536	19	1	280	1	TIAM2	6	155450635	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	619388	155450635	15664432	156	7119											
PNLDC1	154197	broad.mit.edu	37	chr6	160222178	160222178	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatcggagtggtatctaaaGacccgtcagagtgttcagca	11	9	11	10	2	3	2	2	0	1	2	4	3	3	3	2	2	1	3	2	2	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:160222178G>C	ENST00000275275.5	+	3	306	c.135G>C	c.(133-135)aaG>aaC	p.K45N	PNLDC1_ENST00000392167.3_Missense_Mutation_p.K56N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	45						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGTATCTAAAGACCCGTCAGA	0.433													16	440					0	0	0	0	C	160222178	G	C	160222178	3	2	37	1	0	0	0	0	1	0	0	0	12220	933	33	2	141	2	PNLDC1	6	160222178	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	4771543	160222178	10892889	157	7120											
PDE10A	10846	broad.mit.edu	37	chr6	165792732	165792732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccggtctggtacatctcttCcaactgcttcctgtttccaa	6	15	6	14	1	2	0	0	0	2	0	7	0	6	0	4	2	3	3	4	2	3	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:165792732C>T	ENST00000366882.1	-	19	2060	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K	PDE10A_ENST00000539869.2_Missense_Mutation_p.E646K|PDE10A_ENST00000354448.4_Missense_Mutation_p.E636K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	636					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TACATCTCTTCCAACTGCTTC	0.398													4	193					0	0	0	0	T	165792732	C	T	165792732	3	4	37	1	0	0	0	0	1	0	0	0	11701	864	30	2	453	2	PDE10A	6	165792732	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	5570554	165792732	5322335	158	7121											
IQCE	23288	broad.mit.edu	37	chr7	2623917	2623917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttctgaaaccaccggaaaGaagtatgatggccgcttgca	13	8	11	9	2	1	3	0	2	1	1	1	4	1	4	3	2	2	4	3	2	4	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:2623917G>A	ENST00000402050.2	+	11	1006	c.822G>A	c.(820-822)aaG>aaA	p.K274K	IQCE_ENST00000497572.1_3'UTR|IQCE_ENST00000438376.2_Silent_p.K258K|IQCE_ENST00000404984.1_Silent_p.K223K|IQCE_ENST00000325979.7_Silent_p.K209K	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	274										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CCACCGGAAAGAAGTATGATG	0.483													10	293					0	0	0	0	A	2623917	G	A	2623917	2	1	37	1	0	0	0	0	0	0	0	1	7859	933	33	2		2	IQCE	7	2623917	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08		2623917	156514746	159	7122											
TMEM196	256130	broad.mit.edu	37	chr7	19765224	19765224	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactggctagtcgacaagtGagccaggaagagagagtgca	14	6	14	7	1	0	3	0	1	0	2	1	6	0	4	1	2	3	2	1	2	4	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:19765224G>T	ENST00000405844.1	-	3	1067	c.372C>A	c.(370-372)ctC>ctA	p.L124L	TMEM196_ENST00000405764.3_Silent_p.L124L|TMEM196_ENST00000422233.1_Silent_p.L56L|TMEM196_ENST00000493519.1_Silent_p.L56L|TMEM196_ENST00000433641.1_Silent_p.L56L			Q5HYL7	TM196_HUMAN	transmembrane protein 196	130						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						GTCGACAAGTGAGCCAGGAAG	0.512													6	107					0.00116845	0.00119476	1	0	T	19765224	G	T	19765224	2	4	37	1	0	0	0	0	0	0	0	1	16212	1277	45	2		2	TMEM196	7	19765224	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	17141307	19765224	139373439	160	7123											
HOXA4	3201	broad.mit.edu	37	chr7	27169017	27169017	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacttcatcctccggttctGaaaccagatcttgacctggc	8	11	7	15	1	3	3	1	2	2	1	5	3	5	3	5	2	1	1	5	2	1	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:27169017G>C	ENST00000360046.5	-	2	855	c.790C>G	c.(790-792)Cag>Gag	p.Q264E	HOXA4_ENST00000428284.2_Missense_Mutation_p.Q264E|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000467897.2_5'UTR	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	264						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CTCCGGTTCTGAAACCAGATC	0.582													11	245					0	0	0	0	C	27169017	G	C	27169017	3	2	37	1	0	0	0	0	1	0	0	0	7344	1299	45	2	176	2	HOXA4	7	27169017	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	7403793	27169017	131969646	161	7124											
EGFR	1956	broad.mit.edu	37	chr7	55240703	55240703	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcccgtccatcgccactggGatggtgggggccctcctctt	4	10	12	15	2	1	0	0	0	1	0	5	1	4	1	5	4	0	0	5	4	0	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:55240703G>A	ENST00000275493.2	+	17	2124	c.1947G>A	c.(1945-1947)ggG>ggA	p.G649G	EGFR_ENST00000455089.1_Silent_p.G604G|EGFR_ENST00000454757.2_Silent_p.G596G|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	649					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGCCACTGGGATGGTGGGGG	0.632		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	222					0	0	0	0	A	55240703	G	A	55240703	2	1	37	1	0	0	0	0	0	0	0	1	5003	1161	41	2		2	EGFR	7	55240703	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	28071686	55240703	103897960	162	7125											
AKAP9	10142	broad.mit.edu	37	chr7	91630469	91630469	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaatcataaagacagccAgttcgaaactgatatagtac	18	8	8	7	1	1	3	1	1	0	2	2	5	1	3	1	0	3	2	1	0	7	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:91630469A>G	ENST00000359028.2	+	9	1499	c.1274A>G	c.(1273-1275)cAg>cGg	p.Q425R	AKAP9_ENST00000358100.2_Missense_Mutation_p.Q425R|AKAP9_ENST00000356239.3_Missense_Mutation_p.Q413R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	425	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGACAGCCAGTTCGAAACT	0.393			T	BRAF	papillary thyroid								32	86					0	0	0	0	G	91630469	A	G	91630469	3	3	37	1	0	0	0	0	1	0	0	0	459	188	7	5	1268	5	AKAP9	7	91630469	Missense_Mutation	SNP	A	TCGA-BB-4223-01A-01D-1434-08	36389766	91630469	67508194	163	7126											
AKAP9	10142	broad.mit.edu	37	chr7	91726995	91726995	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatcaaactacgctaaattGattgaaatgaatggaggagg	17	9	11	4	1	1	3	1	3	0	0	1	6	1	5	0	3	2	1	0	3	7	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:91726995G>C	ENST00000359028.2	+	42	10731	c.10506G>C	c.(10504-10506)ttG>ttC	p.L3502F	AKAP9_ENST00000358100.2_Missense_Mutation_p.L3448F|AKAP9_ENST00000356239.3_Missense_Mutation_p.L3498F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3502					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACGCTAAATTGATTGAAATGA	0.393			T	BRAF	papillary thyroid								5	166					0	0	0	0	C	91726995	G	C	91726995	3	2	37	1	0	0	0	0	1	0	0	0	459	1281	45	2	10660	2	AKAP9	7	91726995	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	96526	91726995	67411668	164	7127											
ZNF394	84124	broad.mit.edu	37	chr7	99091737	99091737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaggtcagagcgttgtttGaaactcttcccacagttacc	11	11	9	10	1	2	3	1	1	1	2	3	3	3	3	2	1	3	3	2	1	3	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:99091737G>C	ENST00000337673.6	-	3	1304	c.1101C>G	c.(1099-1101)ttC>ttG	p.F367L	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_3'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	367					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGCGTTGTTTGAAACTCTTCC	0.483													7	269					0	0	0	0	C	99091737	G	C	99091737	3	2	37	1	0	0	0	0	1	0	0	0	17975	1281	45	2	588	2	ZNF394	7	99091737	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	7364742	99091737	60046926	165	7128											
ZAN	7455	broad.mit.edu	37	chr7	100365621	100365621	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctcctatggcggccagctCtgtgggctgtgtggtgagtt	3	13	15	10	1	1	1	0	1	1	0	3	1	3	1	3	4	1	3	3	4	1	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:100365621C>G	ENST00000542585.1	+	0	5176				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCGGCCAGCTCTGTGGGCTGT	0.602													5	35					0	0	0	0	G	100365621	C	G	100365621	1	3	37	0	1	0	0	0	0	0	0	0	17609	900	32	2		2	ZAN	7	100365621	RNA	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1273884	100365621	58773042	166	7129											
TRIM56	81844	broad.mit.edu	37	chr7	100732101	100732101	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttccccacgcggatgcctgGagacaagcggtccccccgga	7	6	12	16	4	0	1	0	0	0	1	2	4	2	3	6	4	2	0	6	4	1	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:100732101G>C	ENST00000306085.6	+	3	1805	c.1508G>C	c.(1507-1509)gGa>gCa	p.G503A		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	503					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CGGATGCCTGGAGACAAGCGG	0.657													82	194					0	0	0	0	C	100732101	G	C	100732101	3	2	37	1	0	0	0	0	1	0	0	0	16625	1174	41	2	1510	2	TRIM56	7	100732101	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	366480	100732101	58406562	167	7130											
NRCAM	4897	broad.mit.edu	37	chr7	107866759	107866759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcctctgggaggacattgGaaaaataaaggtccccattc	12	10	10	9	0	1	0	0	0	1	0	4	3	3	3	3	4	0	0	3	4	4	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:107866759G>T	ENST00000379028.3	-	9	1084	c.614C>A	c.(613-615)tCc>tAc	p.S205Y	NRCAM_ENST00000379022.4_Missense_Mutation_p.S205Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.S199Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.S205Y|NRCAM_ENST00000425651.2_Missense_Mutation_p.S205Y|NRCAM_ENST00000413765.2_Missense_Mutation_p.S205Y			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	205	Ig-like 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GAGGACATTGGAAAAATAAAG	0.413													8	279					2.17888e-05	2.25847e-05	1	0	T	107866759	G	T	107866759	3	4	37	1	0	0	0	0	1	0	0	0	10715	1174	41	2	3430	2	NRCAM	7	107866759	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	7134658	107866759	51271904	168	7131											
NRCAM	4897	broad.mit.edu	37	chr7	107866787	107866787	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtccccattcaaaccttGagaaactctctcactttgtg	11	12	6	12	0	3	1	2	1	1	1	5	2	4	1	3	1	2	0	3	1	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:107866787G>C	ENST00000379028.3	-	9	1056	c.586C>G	c.(586-588)Caa>Gaa	p.Q196E	NRCAM_ENST00000379022.4_Missense_Mutation_p.Q196E|NRCAM_ENST00000351718.4_Missense_Mutation_p.Q190E|NRCAM_ENST00000379024.4_Missense_Mutation_p.Q196E|NRCAM_ENST00000425651.2_Missense_Mutation_p.Q196E|NRCAM_ENST00000413765.2_Missense_Mutation_p.Q196E			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	196	Ig-like 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTCAAACCTTGAGAAACTCTC	0.403													6	252					0	0	0	0	C	107866787	G	C	107866787	3	2	37	1	0	0	0	0	1	0	0	0	10715	1299	45	2	3458	2	NRCAM	7	107866787	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	28	107866787	51271876	169	7132											
DOCK4	9732	broad.mit.edu	37	chr7	111368537	111368537	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgctgtacgggggcggagtCttgctctccttgcgcactgg	4	10	15	12	4	2	0	0	0	2	0	3	1	2	1	1	4	3	4	1	4	1	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:111368537C>G	ENST00000428084.1	-	53	5993	c.5721G>C	c.(5719-5721)aaG>aaC	p.K1907N	DOCK4_ENST00000437633.1_Missense_Mutation_p.K1898N|DOCK4_ENST00000494651.2_Missense_Mutation_p.K781N			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1898	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGGGCGGAGTCTTGCTCTCCT	0.692													4	71					0	0	0	0	G	111368537	C	G	111368537	3	3	37	1	0	0	0	0	1	0	0	0	4725	912	32	2	210	2	DOCK4	7	111368537	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	3501750	111368537	47770126	170	7133											
DGKI	9162	broad.mit.edu	37	chr7	137363312	137363312	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcacactcactgcaaatctGacttggcagttctcctctcc	8	11	6	16	1	4	1	1	1	3	0	6	1	4	1	2	1	1	4	2	1	1	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:137363312G>C	ENST00000424189.2	-	3	826	c.597C>G	c.(595-597)gtC>gtG	p.V199V	DGKI_ENST00000288490.5_Silent_p.V199V|DGKI_ENST00000446122.1_Silent_p.V199V|DGKI_ENST00000453654.1_5'UTR			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	199					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGCAAATCTGACTTGGCAGT	0.532													23	473					0	0	0	0	C	137363312	G	C	137363312	2	2	37	1	0	0	0	0	0	0	0	1	4508	1277	45	2		2	DGKI	7	137363312	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	25994775	137363312	21775351	171	7134											
BRAF	673	broad.mit.edu	37	chr7	140434447	140434447	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgcctggatgggtgtttttgGagaagcacaagcatatagac	11	11	13	6	0	0	2	0	0	0	2	0	4	0	3	1	3	3	3	1	3	4	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:140434447G>C	ENST00000288602.6	-	18	2311	c.2251C>G	c.(2251-2253)Cca>Gca	p.P751A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	751					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GGTGTTTTTGGAGAAGCACAA	0.463		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				28	609					0	0	0	0	C	140434447	G	C	140434447	3	2	37	1	0	0	0	0	1	0	0	0	1504	1174	41	2	53	2	BRAF	7	140434447	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	3071135	140434447	18704216	172	7135											
PDIA4	9601	broad.mit.edu	37	chr7	148702240	148702240	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacgggctcaccttttttGaaagcagtgacaaactcgcg	10	9	10	12	3	1	2	1	2	0	0	2	2	1	2	2	1	2	2	2	1	2	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:148702240G>A	ENST00000286091.4	-	9	1747	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	505	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CACCTTTTTTGAAAGCAGTGA	0.602													12	328					0	0	0	0	A	148702240	G	A	148702240	2	1	37	1	0	0	0	0	0	0	0	1	11741	1281	45	2		2	PDIA4	7	148702240	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	8267793	148702240	10436423	173	7136											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19316071	19316071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgaatggtcgaaataagatGagccgtttgaattcgtgttt	11	13	11	6	4	0	3	0	2	0	1	2	5	0	3	2	1	1	2	2	1	4	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:19316071G>A	ENST00000454498.2	-	5	1730	c.717C>T	c.(715-717)ctC>ctT	p.L239L	CSGALNACT1_ENST00000311540.4_Silent_p.L239L|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Silent_p.L239L|CSGALNACT1_ENST00000544602.1_Silent_p.L239L|CSGALNACT1_ENST00000522854.1_Silent_p.L239L	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	239					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	p.L239L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GAAATAAGATGAGCCGTTTGA	0.433													20	529					0	0	0	0	A	19316071	G	A	19316071	2	1	37	1	0	0	0	0	0	0	0	1	3970	1277	45	2		2	CSGALNACT1	8	19316071	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08		19316071	127047951	174	7137											
PDLIM2	64236	broad.mit.edu	37	chr8	22438988	22438988	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cggagggcatgctgcatgccGaggcccagagcaagatccgc	9	4	15	13	3	0	2	0	0	0	2	1	4	1	3	3	3	4	4	3	3	1	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:22438988G>C	ENST00000265810.4	+	2	305	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	PDLIM2_ENST00000409417.1_Missense_Mutation_p.E64Q|PDLIM2_ENST00000409141.1_Missense_Mutation_p.E64Q|PDLIM2_ENST00000397760.4_Missense_Mutation_p.E64Q|PDLIM2_ENST00000397761.2_Missense_Mutation_p.E64Q|PDLIM2_ENST00000339162.7_Missense_Mutation_p.E64Q|PDLIM2_ENST00000308354.7_Missense_Mutation_p.E314Q	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	64	PDZ.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GCTGCATGCCGAGGCCCAGAG	0.682													3	60					0	0	0	0	C	22438988	G	C	22438988	3	2	37	1	0	0	0	0	1	0	0	0	11751	1059	37	3	196	3	PDLIM2	8	22438988	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	3122917	22438988	123925034	175	7138											
CHRNA2	1135	broad.mit.edu	37	chr8	27327430	27327430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgagcctccctgcggcaatgCcgtgggactgggagaggaga	8	5	17	11	3	0	2	0	0	0	2	1	6	1	3	3	4	3	1	3	4	1	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:27327430C>T	ENST00000407991.1	-	3	750	c.142G>A	c.(142-144)Gca>Aca	p.A48T	CHRNA2_ENST00000240132.2_Missense_Mutation_p.A48T|CHRNA2_ENST00000520933.2_Missense_Mutation_p.A48T	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	48						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	TGCGGCAATGCCGTGGGACTG	0.637													4	170					0	0	0	0	T	27327430	C	T	27327430	3	4	37	1	0	0	0	0	1	0	0	0	3412	739	26	4	1467	4	CHRNA2	8	27327430	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	4888442	27327430	119036592	176	7139											
TACC1	6867	broad.mit.edu	37	chr8	38677342	38677342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccagacgccctccaggacGaggcgatgacagaaggcagc	11	2	14	14	4	0	3	0	1	0	2	1	6	1	4	3	3	1	1	3	3	1	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:38677342G>A	ENST00000379931.3	+	3	959	c.580G>A	c.(580-582)Gag>Aag	p.E194K	TACC1_ENST00000518415.1_Missense_Mutation_p.E149K|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000443286.2_Missense_Mutation_p.E210K|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000317827.4_Missense_Mutation_p.E194K|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520340.1_Missense_Mutation_p.E158K|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000520615.1_5'UTR			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	194	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCTCCAGGACGAGGCGATGAC	0.597													8	257					0	0	0	0	A	38677342	G	A	38677342	3	1	37	1	0	0	0	0	1	0	0	0	15592	1059	37	1	590	1	TACC1	8	38677342	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	11349912	38677342	107686680	177	7140											
HOOK3	84376	broad.mit.edu	37	chr8	42823326	42823326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttaagaaaggccaacgcagCgcgaagtcaacttgaaacct	15	6	10	10	3	1	2	1	1	0	1	1	3	1	2	2	1	4	2	2	1	6	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:42823326C>T	ENST00000307602.4	+	11	1291	c.1091C>T	c.(1090-1092)gCg>gTg	p.A364V		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	364					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCCAACGCAGCGCGAAGTCAA	0.418			T	RET	papillary thyroid								4	72					0	0	0	0	T	42823326	C	T	42823326	3	4	37	1	0	0	0	0	1	0	0	0	7334	768	27	1	1133	1	HOOK3	8	42823326	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	4145984	42823326	103540696	178	7141											
ST18	9705	broad.mit.edu	37	chr8	53079543	53079543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctcttttcaggccttggtGaatctatggagaaattcaat	10	14	8	9	0	4	2	2	1	2	1	4	3	4	2	2	3	0	0	2	3	4	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:53079543G>A	ENST00000276480.7	-	11	1756	c.1073C>T	c.(1072-1074)tCa>tTa	p.S358L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	358						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGGCCTTGGTGAATCTATGGA	0.493													158	177					0	0	0	0	A	53079543	G	A	53079543	3	1	37	1	0	0	0	0	1	0	0	0	15302	1294	45	2	2134	2	ST18	8	53079543	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	10256217	53079543	93284479	179	7142											
COPS5	10987	broad.mit.edu	37	chr8	67974227	67974227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataccgctcccggacgccGccatcgccgaggaagcggag	8	3	13	17	7	0	0	0	0	0	0	2	4	1	3	6	3	2	1	6	3	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:67974227G>A	ENST00000357849.4	-	1	325	c.5C>T	c.(4-6)gCg>gTg	p.A2V	COPS5_ENST00000517736.1_Intron|COPS5_ENST00000519963.1_5'UTR	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	2					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CCCGGACGCCGCCATCGCCGA	0.557													4	161					0	0	0	0	A	67974227	G	A	67974227	3	1	37	1	0	0	0	0	1	0	0	0	3766	1087	38	1	1031	1	COPS5	8	67974227	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	14894684	67974227	78389795	180	7143											
LY96	23643	broad.mit.edu	37	chr8	74922333	74922333	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgccgaggatctgatgaCgattactctttttgcagagc	9	14	10	8	2	2	3	0	2	2	1	2	6	2	4	1	1	4	1	1	1	1	4	rs148048520	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:74922333C>T	ENST00000284818.2	+	3	391	c.300C>T	c.(298-300)gaC>gaT	p.D100D	LY96_ENST00000518893.1_Silent_p.D70D	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	100					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GATCTGATGACGATTACTCTT	0.313													92	90					0	0	0	0	T	74922333	C	T	74922333	2	4	37	1	0	0	0	0	0	0	0	1	9167	535	19	1		1	LY96	8	74922333	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	6948106	74922333	71441689	181	7144											
ZNF704	619279	broad.mit.edu	37	chr8	81733769	81733769	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccaaggaaaacacgtgttGatgagacatttttttaccac	13	11	9	8	1	0	2	0	2	0	1	0	4	0	3	2	2	2	1	2	2	4	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:81733769G>C	ENST00000327835.3	-	2	292	c.61C>G	c.(61-63)Caa>Gaa	p.Q21E		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	21						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			AACACGTGTTGATGAGACATT	0.438													23	783					0	0	0	0	C	81733769	G	C	81733769	3	2	37	1	0	0	0	0	1	0	0	0	18202	1299	45	2	1209	2	ZNF704	8	81733769	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	6811436	81733769	64630253	182	7145											
PDP1	54704	broad.mit.edu	37	chr8	94934633	94934633	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttggatttgacagcaatCagctgcctgcaaatgcaccc	10	10	8	13	0	1	1	1	1	0	0	2	2	2	2	3	1	5	4	3	1	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:94934633C>T	ENST00000396200.3	+	3	697	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	PDP1_ENST00000517764.1_Nonsense_Mutation_p.Q116*|PDP1_ENST00000297598.4_Nonsense_Mutation_p.Q116*|PDP1_ENST00000520728.1_Nonsense_Mutation_p.Q116*	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	116					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TGACAGCAATCAGCTGCCTGC	0.463													11	318					0	0	0	0	T	94934633	C	T	94934633	4	4	37	1	0	0	0	0	0	1	0	0	11756	827	29	2	529	2	PDP1	8	94934633	Nonsense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	13200864	94934633	51429389	183	7146											
ATAD2	29028	broad.mit.edu	37	chr8	124358863	124358863	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaagaaaaatatacctattCaaatgaagaaaattaaaatt	23	10	4	4	0	1	3	1	1	0	2	1	3	1	3	1	0	1	1	1	0	12	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:124358863C>G	ENST00000287394.5	-	17	2447	c.2340G>C	c.(2338-2340)ttG>ttC	p.L780F	ATAD2_ENST00000521903.1_Missense_Mutation_p.L98F	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	780					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TATACCTATTCAAATGAAGAA	0.279													3	91					0	0	0	0	G	124358863	C	G	124358863	3	3	37	1	0	0	0	0	1	0	0	0	1075	825	29	2	1880	2	ATAD2	8	124358863	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	29424230	124358863	22005159	184	7147											
TG	7038	broad.mit.edu	37	chr8	134145820	134145820	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaactacaaggagttcagtGagctgctccccaatcgacag	13	7	10	11	1	1	2	1	1	0	1	3	4	2	3	2	1	4	3	2	1	4	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:134145820G>C	ENST00000220616.4	+	47	8144	c.8104G>C	c.(8104-8106)Gag>Cag	p.E2702Q	TG_ENST00000377869.1_Missense_Mutation_p.E2645Q|TG_ENST00000519543.1_Missense_Mutation_p.E835Q|TG_ENST00000542445.1_Missense_Mutation_p.E1072Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2702					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGAGTTCAGTGAGCTGCTCCC	0.537													3	142					0	0	0	0	C	134145820	G	C	134145820	3	2	37	1	0	0	0	0	1	0	0	0	15907	1291	45	2	8290	2	TG	8	134145820	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	9786957	134145820	12218202	185	7148											
SLC45A4	57210	broad.mit.edu	37	chr8	142228605	142228605	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgggactttagcttcattCaagtgattatccagcaaggt	10	15	9	7	0	2	1	2	1	0	0	3	2	3	2	1	2	2	2	1	2	4	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:142228605C>G	ENST00000519067.1	-	4	1284	c.981G>C	c.(979-981)ttG>ttC	p.L327F	SLC45A4_ENST00000517878.1_Missense_Mutation_p.L378F|SLC45A4_ENST00000433583.2_Missense_Mutation_p.L320F|SLC45A4_ENST00000024061.3_Missense_Mutation_p.L327F			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	378					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TAGCTTCATTCAAGTGATTAT	0.617													4	175					0	0	0	0	G	142228605	C	G	142228605	3	3	37	1	0	0	0	0	1	0	0	0	14731	825	29	2	1435	2	SLC45A4	8	142228605	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	8082785	142228605	4135417	186	7149											
ZNF623	9831	broad.mit.edu	37	chr8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagattttaactcaactaCaaacgttaaaaataatcaaa	21	10	4	6	1	2	1	2	0	0	1	2	3	2	1	0	0	4	1	0	0	9	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K|ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413													5	254					0.000602214	0.000617168	1	0	A	144733541	C	A	144733541	3	1	37	1	0	0	0	0	1	0	0	0	18142	478	17	4	1501	4	ZNF623	8	144733541	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	2504936	144733541	1630481	187	7150											
KIAA2026	158358	broad.mit.edu	37	chr9	5920395	5920395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgaatacaaggttcactGaactgactcccgactagact	12	10	8	11	1	1	4	1	3	0	1	2	5	2	4	1	1	3	2	1	1	5	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:5920395G>A	ENST00000399933.3	-	8	5600	c.5601C>T	c.(5599-5601)ttC>ttT	p.F1867F	KIAA2026_ENST00000381461.2_Silent_p.F1837F	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1867										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAGGTTCACTGAACTGACTCC	0.448													13	345					0	0	0	0	A	5920395	G	A	5920395	2	1	37	1	0	0	0	0	0	0	0	1	8321	1281	45	2		2	KIAA2026	9	5920395	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08		5920395	135293036	188	7151											
BNC2	54796	broad.mit.edu	37	chr9	16435892	16435892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgatgacgtcctggtgaGagggctcactgtggttctca	6	12	13	10	1	2	3	2	3	1	1	4	4	3	3	2	3	0	2	2	3	0	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:16435892G>A	ENST00000380672.4	-	6	2357	c.2300C>T	c.(2299-2301)tCt>tTt	p.S767F	BNC2_ENST00000380666.2_Missense_Mutation_p.S767F|BNC2_ENST00000380667.2_Missense_Mutation_p.S700F|BNC2_ENST00000545497.1_Missense_Mutation_p.S672F	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	767					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTCCTGGTGAGAGGGCTCACT	0.502													4	99					0	0	0	0	A	16435892	G	A	16435892	3	1	37	1	0	0	0	0	1	0	0	0	1480	942	33	2	1007	2	BNC2	9	16435892	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	10515497	16435892	124777539	189	7152											
DENND4C	55667	broad.mit.edu	37	chr9	19316773	19316773	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaggatatagaacatatctCagaccaatcacagaggctcc	17	7	7	10	0	2	3	2	0	1	3	4	4	3	4	2	2	1	1	2	2	6	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:19316773C>G	ENST00000380432.2	+	8	1068	c.1035C>G	c.(1033-1035)ctC>ctG	p.L345L	DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000602925.1_Silent_p.L581L|DENND4C_ENST00000434457.2_Silent_p.L581L	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	345	dDENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAACATATCTCAGACCAATCA	0.393													6	314					0	0	0	0	G	19316773	C	G	19316773	2	3	37	1	0	0	0	0	0	0	0	1	4472	813	29	2		2	DENND4C	9	19316773	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	2880881	19316773	121896658	190	7153											
IFNE	338376	broad.mit.edu	37	chr9	21481364	21481364	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgttgatgaagttgaatGaggaatttctccgtgtggtt	9	15	13	4	1	1	4	0	4	1	0	2	5	1	5	1	2	1	4	1	2	3	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:21481364G>A	ENST00000448696.3	-	1	948	c.330C>T	c.(328-330)ctC>ctT	p.L110L	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	110					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						GAAGTTGAATGAGGAATTTCT	0.448													11	265					0	0	0	0	A	21481364	G	A	21481364	2	1	37	1	0	0	0	0	0	0	0	1	7600	1277	45	2		2	IFNE	9	21481364	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2164591	21481364	119732067	191	7154											
IFNE	338376	broad.mit.edu	37	chr9	21481504	21481504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaggactcaaagacttctGaggaagcagaaagtttttcc	13	10	10	8	0	2	4	1	2	1	2	3	6	3	6	1	2	1	2	1	2	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:21481504G>C	ENST00000448696.3	-	1	808	c.190C>G	c.(190-192)Cag>Gag	p.Q64E	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	64					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						AAAGACTTCTGAGGAAGCAGA	0.418													3	118					0	0	0	0	C	21481504	G	C	21481504	3	2	37	1	0	0	0	0	1	0	0	0	7600	1299	45	2	440	2	IFNE	9	21481504	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	140	21481504	119731927	192	7155											
RGP1	9827	broad.mit.edu	37	chr9	35751361	35751361	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaagattcatggctagctGagctggctggggaacgccta	11	8	14	8	1	1	3	1	1	0	2	1	4	1	4	1	4	3	4	1	4	4	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:35751361G>C	ENST00000378078.4	+	6	727	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	RGP1_ENST00000456972.2_Missense_Mutation_p.E236Q	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	196										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCTAGCTGAGCTGGCTGG	0.547													5	139					0	0	0	0	C	35751361	G	C	35751361	3	2	37	1	0	0	0	0	1	0	0	0	13366	1291	45	2	732	2	RGP1	9	35751361	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	14269857	35751361	105462070	193	7156											
NPR2	4882	broad.mit.edu	37	chr9	35807370	35807370	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatacctgctttgatgccaTaattgacaactttgatgtct	10	16	7	8	0	1	3	0	3	1	0	1	3	1	3	2	0	4	2	2	0	4	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:35807370T>C	ENST00000342694.2	+	18	2942	c.2687T>C	c.(2686-2688)aTa>aCa	p.I896T		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	896	Guanylate cyclase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TTTGATGCCATAATTGACAAC	0.443													40	313					0	0	0	0	C	35807370	T	C	35807370	3	2	37	1	0	0	0	0	1	0	0	0	10666	1406	49	5	2757	5	NPR2	9	35807370	Missense_Mutation	SNP	T	TCGA-BB-4223-01A-01D-1434-08	56009	35807370	105406061	194	7157											
NTRK2	4915	broad.mit.edu	37	chr9	87325654	87325654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcaggatttgtactgcctGaatgaaagcagcaagaatat	15	10	9	7	0	1	3	1	2	0	1	1	4	1	4	1	1	4	3	1	1	6	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:87325654G>A	ENST00000304053.6	+	6	1014	c.531G>A	c.(529-531)ctG>ctA	p.L177L	NTRK2_ENST00000376213.1_Silent_p.L177L|NTRK2_ENST00000395882.1_Silent_p.L177L|NTRK2_ENST00000395866.2_Silent_p.L21L|NTRK2_ENST00000277120.3_Silent_p.L177L|NTRK2_ENST00000376214.1_Silent_p.L177L|NTRK2_ENST00000359847.3_Silent_p.L177L|NTRK2_ENST00000376208.1_Silent_p.L177L|NTRK2_ENST00000323115.4_Silent_p.L177L	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	177	LRRCT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGTACTGCCTGAATGAAAGCA	0.403										TSP Lung(25;0.17)			5	124					0	0	0	0	A	87325654	G	A	87325654	2	1	37	1	0	0	0	0	0	0	0	1	10778	1277	45	2		2	NTRK2	9	87325654	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	51518284	87325654	53887777	195	7158											
ZNF169	169841	broad.mit.edu	37	chr9	97062673	97062673	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tagccagaaggcctccctctCcatacaccagaggaagcact	12	6	8	15	0	1	2	0	0	1	2	3	3	2	3	5	2	3	1	5	2	4	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:97062673C>G	ENST00000395395.2	+	5	923	c.833C>G	c.(832-834)tCc>tGc	p.S278C	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	278				SLS -> PSP (in Ref. 5; AAA70188).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GCCTCCCTCTCCATACACCAG	0.542													4	172					0	0	0	0	G	97062673	C	G	97062673	3	3	37	1	0	0	0	0	1	0	0	0	17837	855	30	2	847	2	ZNF169	9	97062673	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	9737019	97062673	44150758	196	7159											
SVEP1	79987	broad.mit.edu	37	chr9	113275356	113275356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggataaagtaaccattttCgggaggcttcagggcagggc	10	10	14	7	1	1	0	1	0	0	0	2	2	1	2	1	5	1	3	1	5	3	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:113275356C>T	ENST00000401783.2	-	5	1489	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.E362K|SVEP1_ENST00000302728.8_Missense_Mutation_p.E385K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E362K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	385	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAACCATTTTCGGGAGGCTTC	0.403													14	62					0	0	0	0	T	113275356	C	T	113275356	3	4	37	1	0	0	0	0	1	0	0	0	15510	893	31	1	9738	1	SVEP1	9	113275356	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	16212683	113275356	27938075	197	7160											
PIP5KL1	138429	broad.mit.edu	37	chr9	130687445	130687445	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcatcctcgtggagacgttgGaaggctatcaggaggctgta	9	10	14	8	2	2	1	2	0	0	1	4	4	3	3	1	5	0	4	1	5	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:130687445G>A	ENST00000388747.4	-	9	902	c.858C>T	c.(856-858)ttC>ttT	p.F286F	PIP5KL1_ENST00000300432.3_Silent_p.F83F|PIP5KL1_ENST00000490773.1_5'UTR	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	286	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GGAGACGTTGGAAGGCTATCA	0.637													10	181					0	0	0	0	A	130687445	G	A	130687445	2	1	37	1	0	0	0	0	0	0	0	1	12014	1165	41	2		2	PIP5KL1	9	130687445	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	17412089	130687445	10525986	198	7161											
PIP5KL1	138429	broad.mit.edu	37	chr9	130687478	130687478	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctgtaatccagcacgttGagctcccggaggaaggtggt	9	8	15	9	2	0	1	0	1	0	0	2	3	2	3	2	5	2	5	2	5	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:130687478G>C	ENST00000388747.4	-	9	869	c.825C>G	c.(823-825)ctC>ctG	p.L275L	PIP5KL1_ENST00000300432.3_Silent_p.L72L|PIP5KL1_ENST00000490773.1_5'UTR	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	275	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CCAGCACGTTGAGCTCCCGGA	0.637													5	142					0	0	0	0	C	130687478	G	C	130687478	2	2	37	1	0	0	0	0	0	0	0	1	12014	1277	45	2		2	PIP5KL1	9	130687478	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	33	130687478	10525953	199	7162											
PRDM12	59335	broad.mit.edu	37	chr9	133542052	133542052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtgatcatcgctcagagctCcatccctggcgagggcctcg	6	8	13	14	3	2	2	2	1	0	1	6	3	4	2	3	3	1	2	3	3	0	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:133542052C>G	ENST00000253008.2	+	2	341	c.281C>G	c.(280-282)tCc>tGc	p.S94C		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	94	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GCTCAGAGCTCCATCCCTGGC	0.672													6	197					0	0	0	0	G	133542052	C	G	133542052	3	3	37	1	0	0	0	0	1	0	0	0	12533	855	30	2	287	2	PRDM12	9	133542052	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	2854574	133542052	7671379	200	7163											
C9orf171	389799	broad.mit.edu	37	chr9	135357756	135357756	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgactcctcagcggtgcaGaaagttattccttcccttgc	8	13	8	12	1	1	2	1	1	0	1	4	2	4	2	3	1	3	2	3	1	3	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:135357756G>A	ENST00000343036.2	+	2	303	c.255G>A	c.(253-255)caG>caA	p.Q85Q	C9orf171_ENST00000393215.3_Intron|C9orf171_ENST00000393216.2_Intron	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	85										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CAGCGGTGCAGAAAGTTATTC	0.493													10	172					0	0	0	0	A	135357756	G	A	135357756	2	1	37	1	0	0	0	0	0	0	0	1	2495	933	33	2		2	C9orf171	9	135357756	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1815704	135357756	5855675	201	7164											
KIAA1462	57608	broad.mit.edu	37	chr10	30316406	30316406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacatcctcggctgtggctCaaccctcatttccgggctgt	5	11	9	16	2	2	0	2	0	0	0	5	0	4	0	4	3	1	3	4	3	1	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:30316406C>G	ENST00000375377.1	-	3	2772	c.2671G>C	c.(2671-2673)Gag>Cag	p.E891Q		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	891										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGCTGTGGCTCAACCCTCATT	0.622													4	166					0	0	0	0	G	30316406	C	G	30316406	3	3	37	1	0	0	0	0	1	0	0	0	8285	835	29	2	1416	2	KIAA1462	10	30316406	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08		30316406	105218341	202	7165											
MAP3K8	1326	broad.mit.edu	37	chr10	30749691	30749691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctcaagaggcaacgctctCtctacatcgacctcggcgct	8	9	9	15	4	3	1	1	0	2	1	6	2	3	1	1	2	3	4	1	2	3	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:30749691C>G	ENST00000263056.1	+	9	2026	c.1330C>G	c.(1330-1332)Ctc>Gtc	p.L444V	MAP3K8_ENST00000542547.1_Missense_Mutation_p.L444V|MAP3K8_ENST00000375321.1_Missense_Mutation_p.L444V	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	444			Missing (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GCAACGCTCTCTCTACATCGA	0.463													7	180					0	0	0	0	G	30749691	C	G	30749691	3	3	37	1	0	0	0	0	1	0	0	0	9325	913	32	2	1356	2	MAP3K8	10	30749691	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	433285	30749691	104785056	203	7166											
ITGB1	3688	broad.mit.edu	37	chr10	33200866	33200866	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaattatcacactcgcaGaatttgccagaataaatttc	15	13	5	8	1	1	3	1	1	0	2	3	3	1	3	1	0	1	1	1	0	6	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:33200866G>A	ENST00000396033.2	-	12	1791	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	ITGB1_ENST00000423113.1_Silent_p.F552F|ITGB1_ENST00000374956.4_Silent_p.F552F|ITGB1_ENST00000302278.3_Silent_p.F552F	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	552	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CACACTCGCAGAATTTGCCAG	0.398													14	262					0	0	0	0	A	33200866	G	A	33200866	2	1	37	1	0	0	0	0	0	0	0	1	7943	933	33	2		2	ITGB1	10	33200866	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2451175	33200866	102333881	204	7167											
POLR3A	11128	broad.mit.edu	37	chr10	79737257	79737257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tatgtgacaagggggatgtgGaattcatttgtgtcgaagat	11	13	14	3	1	1	2	1	1	0	1	2	5	1	4	0	3	0	0	0	3	4	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:79737257G>C	ENST00000372371.3	-	31	4289	c.4152C>G	c.(4150-4152)ttC>ttG	p.F1384L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1384					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGGGGATGTGGAATTCATTTG	0.517													11	207					0	0	0	0	C	79737257	G	C	79737257	3	2	37	1	0	0	0	0	1	0	0	0	12300	1165	41	2	24	2	POLR3A	10	79737257	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	46536391	79737257	55797490	205	7168											
POLR3A	11128	broad.mit.edu	37	chr10	79737319	79737319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggtccctgtcagccttgtGaagcagcttgaagagcccgg	7	8	14	12	2	1	3	1	2	0	1	2	3	2	3	3	2	4	2	3	2	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:79737319G>A	ENST00000372371.3	-	31	4227	c.4090C>T	c.(4090-4092)Cac>Tac	p.H1364Y		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1364					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCAGCCTTGTGAAGCAGCTTG	0.512													9	175					0	0	0	0	A	79737319	G	A	79737319	3	1	37	1	0	0	0	0	1	0	0	0	12300	1290	45	2	86	2	POLR3A	10	79737319	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	62	79737319	55797428	206	7169											
LIPA	3988	broad.mit.edu	37	chr10	90974779	90974779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccgctccagactgcagtcgGcacaagcatgtccttcacat	9	8	8	16	2	1	1	1	0	0	1	4	1	3	1	3	1	2	4	3	1	1	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:90974779G>A	ENST00000336233.5	-	10	1328	c.1006C>T	c.(1006-1008)Ccg>Tcg	p.P336S	LIPA_ENST00000456827.1_Missense_Mutation_p.P336S|LIPA_ENST00000371837.1_Missense_Mutation_p.P280S			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	336					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		ACTGCAGTCGGCACAAGCATG	0.448													4	143					0	0	0	0	A	90974779	G	A	90974779	3	1	37	1	0	0	0	0	1	0	0	0	8874	1203	42	4	197	4	LIPA	10	90974779	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	11237460	90974779	44559968	207	7170											
PNLIP	5406	broad.mit.edu	37	chr10	118306823	118306823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggaaaagaagtttgctacGaaagactcggctgcttcagt	13	9	11	8	2	1	2	1	0	0	2	2	4	1	3	0	2	3	4	0	2	5	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:118306823G>A	ENST00000369221.2	+	3	92	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	22					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGTTTGCTACGAAAGACTCGG	0.423													6	141					0	0	0	0	A	118306823	G	A	118306823	3	1	37	1	0	0	0	0	1	0	0	0	12221	1059	37	1	70	1	PNLIP	10	118306823	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	27332044	118306823	17227924	208	7171											
TACC2	10579	broad.mit.edu	37	chr10	124001494	124001494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatagtggccgagtatgaGaagaccatcgctcagatgat	15	8	11	7	2	1	4	1	2	0	3	2	6	1	4	2	1	0	2	2	1	5	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:124001494G>C	ENST00000369005.1	+	19	8710	c.8370G>C	c.(8368-8370)gaG>gaC	p.E2790D	TACC2_ENST00000260733.3_Missense_Mutation_p.E868D|TACC2_ENST00000358010.1_Missense_Mutation_p.E936D|TACC2_ENST00000453444.2_Missense_Mutation_p.E2717D|TACC2_ENST00000515603.1_Missense_Mutation_p.E2668D|TACC2_ENST00000369000.1_Missense_Mutation_p.E413D|TACC2_ENST00000360561.3_Missense_Mutation_p.E838D|TACC2_ENST00000369001.1_Missense_Mutation_p.E417D|TACC2_ENST00000369004.3_Missense_Mutation_p.E850D|TACC2_ENST00000513429.1_Missense_Mutation_p.E936D|TACC2_ENST00000515273.1_Missense_Mutation_p.E2717D|TACC2_ENST00000334433.3_Missense_Mutation_p.E2790D|TACC2_ENST00000368999.1_Missense_Mutation_p.E880D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2790						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCGAGTATGAGAAGACCATCG	0.522													9	184					0	0	0	0	C	124001494	G	C	124001494	3	2	37	1	0	0	0	0	1	0	0	0	15593	933	33	2	8512	2	TACC2	10	124001494	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	5694671	124001494	11533253	209	7172											
CPXM2	119587	broad.mit.edu	37	chr10	125516751	125516751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctccatgaacacgatcagaGattcccggttattctcccac	10	10	7	14	2	2	2	1	1	1	1	5	4	4	2	3	1	1	2	3	1	2	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:125516751G>A	ENST00000241305.3	-	12	2049	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	632					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CACGATCAGAGATTCCCGGTT	0.537													7	198					0	0	0	0	A	125516751	G	A	125516751	3	1	37	1	0	0	0	0	1	0	0	0	3868	942	33	2	387	2	CPXM2	10	125516751	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1515257	125516751	10017996	210	7173											
TUBGCP2	10844	broad.mit.edu	37	chr10	135096618	135096618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatgacgcacacagacatGagcttggagaagaccttcag	15	6	10	10	1	1	5	1	2	0	3	1	6	1	5	1	1	2	2	1	1	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:135096618G>A	ENST00000368563.2	-	15	2609	c.2253C>T	c.(2251-2253)ctC>ctT	p.L751L	TUBGCP2_ENST00000543663.1_Silent_p.L779L|TUBGCP2_ENST00000368562.1_Silent_p.L344L|TUBGCP2_ENST00000417178.2_Silent_p.L621L|TUBGCP2_ENST00000252936.3_Silent_p.L751L	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	751					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ACACAGACATGAGCTTGGAGA	0.612													7	123					0	0	0	0	A	135096618	G	A	135096618	2	1	37	1	0	0	0	0	0	0	0	1	16862	1277	45	2		2	TUBGCP2	10	135096618	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	9579867	135096618	438129	211	7174											
CDHR5	53841	broad.mit.edu	37	chr11	621851	621851	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcttaaaggggaattcGggggcattgtcattgacgtc	8	13	14	6	2	2	1	1	1	1	0	4	2	2	2	0	5	0	1	0	5	3	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:621851G>A	ENST00000358353.3	-	5	688	c.366C>T	c.(364-366)ccC>ccT	p.P122P	CDHR5_ENST00000349570.7_Silent_p.P122P|CDHR5_ENST00000397542.2_Silent_p.P122P			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	122	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P122P(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						AGGGGAATTCGGGGGCATTGT	0.637													8	98					0	0	0	0	A	621851	G	A	621851	2	1	37	1	0	0	0	0	0	0	0	1	3151	1103	39	1		1	CDHR5	11	621851	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08		621851	134384665	212	7175											
MUC6	4588	broad.mit.edu	37	chr11	1017138	1017138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggtggggctgtgtgggtgGaccctgtggccttgatcgtg	2	13	19	7	1	0	1	0	1	0	0	1	2	0	2	2	6	0	1	2	6	0	2	rs71472140		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:1017138G>A	ENST00000421673.2	-	31	5713	c.5663C>T	c.(5662-5664)tCc>tTc	p.S1888F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1888	Approximate repeats.|Thr-rich.				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)		TGTGTGGGTGGACCCTGTGGC	0.567													127	854					0	0	0	0	A	1017138	G	A	1017138	3	1	37	1	0	0	0	0	1	0	0	0	10050	1174	41	2	1668	2	MUC6	11	1017138	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	395287	1017138	133989378	213	7176											
MUC5B	727897	broad.mit.edu	37	chr11	1271273	1271273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcctccactccggggaCgacctggatcctcacagagc	7	6	9	19	2	1	1	1	0	0	1	5	4	5	3	7	3	1	0	7	3	0	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:1271273C>T	ENST00000447027.1	+	31	13230	c.13172C>T	c.(13171-13173)aCg>aTg	p.T4391M	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4388M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4388	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCGGGGACGACCTGGATC	0.662													6	124					0	0	0	0	T	1271273	C	T	1271273	3	4	37	1	0	0	0	0	1	0	0	0	10049	536	19	1	13294	1	MUC5B	11	1271273	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	254135	1271273	133735243	214	7177											
BRSK2	9024	broad.mit.edu	37	chr11	1467115	1467115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctgcgcggcgggccattGagatggcccagcacggccag	6	5	16	14	4	0	1	0	1	0	1	0	2	0	1	4	4	3	1	4	4	0	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:1467115G>A	ENST00000308219.9	+	12	1590	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	BRSK2_ENST00000528841.1_Missense_Mutation_p.E402K|BRSK2_ENST00000382179.1_Missense_Mutation_p.E448K|BRSK2_ENST00000531197.1_Missense_Mutation_p.E402K|BRSK2_ENST00000544817.1_Missense_Mutation_p.E97K|BRSK2_ENST00000308230.5_Missense_Mutation_p.E402K|BRSK2_ENST00000526678.1_Missense_Mutation_p.E402K|BRSK2_ENST00000528710.1_Missense_Mutation_p.E342K	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	402					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GCGGGCCATTGAGATGGCCCA	0.716													4	107					0	0	0	0	A	1467115	G	A	1467115	3	1	37	1	0	0	0	0	1	0	0	0	1532	1291	45	2	1250	2	BRSK2	11	1467115	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	195842	1467115	133539401	215	7178											
NUP98	4928	broad.mit.edu	37	chr11	3784171	3784171	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagtattggtctgcccaaaGagacctgttcctgttccaaa	10	11	8	12	0	1	1	0	0	1	1	3	2	3	1	5	1	1	3	5	1	3	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:3784171G>C	ENST00000324932.7	-	9	1467	c.1047C>G	c.(1045-1047)ctC>ctG	p.L349L	NUP98_ENST00000397004.4_Silent_p.L349L|NUP98_ENST00000397007.4_Silent_p.L349L|NUP98_ENST00000359171.4_Silent_p.L349L|NUP98_ENST00000355260.3_Silent_p.L349L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	349	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TCTGCCCAAAGAGACCTGTTC	0.443			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								6	193					0	0	0	0	C	3784171	G	C	3784171	2	2	37	1	0	0	0	0	0	0	0	1	10844	929	33	2		2	NUP98	11	3784171	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2317056	3784171	131222345	216	7179											
OR52D1	390066	broad.mit.edu	37	chr11	5510656	5510656	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgatgcccagcacaaagcTctgagtacctgtggctccca	10	8	9	14	0	1	2	0	2	1	0	2	2	2	2	3	1	4	4	3	1	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:5510656T>C	ENST00000322641.5	+	1	742	c.720T>C	c.(718-720)gcT>gcC	p.A240A	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACAAAGCTCTGAGTACCT	0.512													8	279					0	0	0	0	C	5510656	T	C	5510656	2	2	37	1	0	0	0	0	0	0	0	1	11185	1538	54	5		5	OR52D1	11	5510656	Silent	SNP	T	TCGA-BB-4223-01A-01D-1434-08	1726485	5510656	129495860	217	7180											
C11orf42	160298	broad.mit.edu	37	chr11	6231403	6231403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catatgggtgacctgcgcaaGaaggttgccttcctgttgct	7	12	12	10	1	0	2	0	1	0	1	1	2	1	2	3	2	3	4	3	2	3	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:6231403G>C	ENST00000316375.2	+	2	446	c.396G>C	c.(394-396)aaG>aaC	p.K132N		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	132								p.K132delK(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTGCGCAAGAAGGTTGCCT	0.552													6	210					0	0	0	0	C	6231403	G	C	6231403	3	2	37	1	0	0	0	0	1	0	0	0	1652	933	33	2	402	2	C11orf42	11	6231403	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	720747	6231403	128775113	218	7181											
CCKBR	887	broad.mit.edu	37	chr11	6291978	6291978	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttagggcttcgctttgaCggcgacagtgacagcgacag	9	9	13	10	4	0	2	0	2	0	0	1	4	0	2	0	2	2	2	0	2	2	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:6291978C>T	ENST00000525462.1	+	4	759	c.756C>T	c.(754-756)gaC>gaT	p.D252D	CCKBR_ENST00000532715.1_Silent_p.D168D|CCKBR_ENST00000334619.2_Silent_p.D252D			P32239	GASR_HUMAN	cholecystokinin B receptor	210					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.D252D(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCGCTTTGACGGCGACAGTG	0.602													61	79					0	0	0	0	T	6291978	C	T	6291978	2	4	37	1	0	0	0	0	0	0	0	1	2908	535	19	1		1	CCKBR	11	6291978	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	60575	6291978	128714538	219	7182											
RRP8	23378	broad.mit.edu	37	chr11	6621416	6621416	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggctgaagctgcaggcctGaaagctgagccttgggccct	8	8	14	11	0	0	3	0	3	0	0	0	3	0	3	3	3	4	4	3	3	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:6621416G>C	ENST00000254605.6	-	7	1448	c.1331C>G	c.(1330-1332)tCa>tGa	p.S444*	RRP8_ENST00000534343.1_Nonsense_Mutation_p.S128*	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	444					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CTGCAGGCCTGAAAGCTGAGC	0.537													6	128					0	0	0	0	C	6621416	G	C	6621416	4	2	37	1	0	0	0	0	0	1	0	0	13775	1294	45	2	43	2	RRP8	11	6621416	Nonsense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	329438	6621416	128385100	220	7183											
LYVE1	10894	broad.mit.edu	37	chr11	10585492	10585492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagatcagactcaccagatGagttgtaacaataggctgca	14	8	10	9	0	2	4	2	1	0	3	2	4	2	4	1	1	2	5	1	1	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:10585492G>A	ENST00000256178.3	-	3	550	c.392C>T	c.(391-393)tCa>tTa	p.S131L	MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000531706.1_5'UTR|LYVE1_ENST00000529598.1_Intron|MRVI1-AS1_ENST00000529829.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	131					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		CTCACCAGATGAGTTGTAACA	0.507													5	83					0	0	0	0	A	10585492	G	A	10585492	3	1	37	1	0	0	0	0	1	0	0	0	9194	1294	45	2	592	2	LYVE1	11	10585492	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	3964076	10585492	124421024	221	7184											
GTF2H1	2965	broad.mit.edu	37	chr11	18361122	18361122	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgttttaggctgatgtccgGccccaaactgatggctgtaa	8	13	11	9	1	0	2	0	2	0	0	1	2	1	2	3	3	1	4	3	3	3	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:18361122G>A	ENST00000265963.4	+	5	685	c.525G>A	c.(523-525)cgG>cgA	p.R175R	GTF2H1_ENST00000524753.4_5'UTR|GTF2H1_ENST00000453096.2_Silent_p.R175R|GTF2H1_ENST00000534641.1_Silent_p.R59R	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	175					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CTGATGTCCGGCCCCAAACTG	0.433								Nucleotide excision repair (NER)					4	171					0	0	0	0	A	18361122	G	A	18361122	2	1	37	1	0	0	0	0	0	0	0	1	6910	1190	42	4		4	GTF2H1	11	18361122	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	7775630	18361122	116645394	222	7185											
CCDC34	91057	broad.mit.edu	37	chr11	27384412	27384412	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgtaactccattcctctCaggctcgccactttggcctc	5	12	6	18	1	1	0	1	0	1	0	6	0	3	0	5	2	1	2	5	2	1	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:27384412C>T	ENST00000317945.6	-	1	369	c.330G>A	c.(328-330)ctG>ctA	p.L110L	CCDC34_ENST00000328697.6_Silent_p.L110L	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	110										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CCATTCCTCTCAGGCTCGCCA	0.562													9	215					0	0	0	0	T	27384412	C	T	27384412	2	4	37	1	0	0	0	0	0	0	0	1	2833	813	29	2		2	CCDC34	11	27384412	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	9023290	27384412	107622104	223	7186											
CREB3L1	90993	broad.mit.edu	37	chr11	46321584	46321584	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccctgtgctggatgagaaGagccctctattggacatgga	10	9	13	9	0	1	2	0	1	1	2	1	7	1	5	2	3	2	1	2	3	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:46321584G>C	ENST00000529193.1	+	2	652	c.201G>C	c.(199-201)aaG>aaC	p.K67N	CREB3L1_ENST00000288400.3_Missense_Mutation_p.K67N			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	67					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		TGGATGAGAAGAGCCCTCTAT	0.577			T	FUS	myxofibrosarcoma								17	45					0	0	0	0	C	46321584	G	C	46321584	3	2	37	1	0	0	0	0	1	0	0	0	3886	933	33	2	207	2	CREB3L1	11	46321584	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	18937172	46321584	88684932	224	7187											
NUP160	23279	broad.mit.edu	37	chr11	47810131	47810131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaacactctttctccagatCttccagttccaggatttcaa	10	13	6	12	0	4	1	1	0	3	1	7	3	6	3	3	2	1	1	3	2	2	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:47810131C>T	ENST00000378460.2	-	30	3590	c.3544G>A	c.(3544-3546)Gat>Aat	p.D1182N	NUP160_ENST00000530326.1_Missense_Mutation_p.D1068N	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1182					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTCTCCAGATCTTCCAGTTCC	0.413													5	100					0	0	0	0	T	47810131	C	T	47810131	3	4	37	1	0	0	0	0	1	0	0	0	10828	913	32	2	794	2	NUP160	11	47810131	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1488547	47810131	87196385	225	7188											
OR4C12	283093	broad.mit.edu	37	chr11	50003785	50003785	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagatgattttcttctcttGaaaggaatccacaatcaact	13	13	7	8	0	3	3	1	2	2	1	5	5	4	4	1	2	1	0	1	2	4	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:50003785G>A	ENST00000335238.4	-	1	286	c.253C>T	c.(253-255)Caa>Taa	p.Q85*		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TTCTTCTCTTGAAAGGAATCC	0.443													76	125					0	0	0	0	A	50003785	G	A	50003785	4	1	37	1	0	0	0	0	0	1	0	0	11117	1299	45	2	680	2	OR4C12	11	50003785	Nonsense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2193654	50003785	85002731	226	7189											
SSSCA1	10534	broad.mit.edu	37	chr11	65338884	65338884	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaatgcccaggctgccctCtcccaagctcgggagcacca	8	6	10	17	1	1	1	0	1	1	0	3	2	1	2	4	2	4	3	4	2	2	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:65338884C>G	ENST00000531405.1	+	3	404	c.168C>G	c.(166-168)ctC>ctG	p.L56L	SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000309328.3_Silent_p.L93L			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	93					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						AGGCTGCCCTCTCCCAAGCTC	0.632													10	158					0	0	0	0	G	65338884	C	G	65338884	2	3	37	1	0	0	0	0	0	0	0	1	15285	900	32	2		2	SSSCA1	11	65338884	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	15335099	65338884	69667632	227	7190											
EFEMP2	30008	broad.mit.edu	37	chr11	65638808	65638808	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttcccccttgcaggcctCagggatggtcagacactcgt	7	10	10	14	1	2	1	2	0	0	1	4	2	3	2	3	3	1	1	3	3	0	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:65638808C>A	ENST00000307998.6	-	4	417	c.187G>T	c.(187-189)Gag>Tag	p.E63*	EFEMP2_ENST00000528176.1_Nonsense_Mutation_p.E63*	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	63	EGF-like 1; atypical.				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TTGCAGGCCTCAGGGATGGTC	0.647													12	236					2.27111e-07	2.37031e-07	1	0	A	65638808	C	A	65638808	4	1	37	1	0	0	0	0	0	1	0	0	4978	835	29	2	1176	2	EFEMP2	11	65638808	Nonsense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	299924	65638808	69367708	228	7191											
SYT12	91683	broad.mit.edu	37	chr11	66811231	66811231	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgatgaggatgagcgcaaCgtcagcacgggggtggtgga	10	6	18	7	4	1	2	1	2	0	0	2	5	1	4	0	5	3	2	0	5	1	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:66811231C>T	ENST00000393946.2	+	8	1906	c.744C>T	c.(742-744)aaC>aaT	p.N248N	SYT12_ENST00000525457.1_Silent_p.N248N|SYT12_ENST00000527043.1_Silent_p.N248N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	248	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						ATGAGCGCAACGTCAGCACGG	0.547													9	165					0	0	0	0	T	66811231	C	T	66811231	2	4	37	1	0	0	0	0	0	0	0	1	15559	535	19	1		1	SYT12	11	66811231	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1172423	66811231	68195285	229	7192											
POLD4	57804	broad.mit.edu	37	chr11	67120197	67120197	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtctccggggtgggtcttCagcacctgccacacctctgg	4	9	14	14	1	4	0	1	0	3	0	5	0	4	0	4	5	2	1	4	5	0	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:67120197C>T	ENST00000312419.3	-	3	410	c.264G>A	c.(262-264)ctG>ctA	p.L88L	POLD4_ENST00000529704.1_5'UTR|AP003419.11_ENST00000543494.1_RNA|POLD4_ENST00000539074.1_Intron	NM_021173.4	NP_066996.3	Q9HCU8	DPOD4_HUMAN	polymerase (DNA-directed), delta 4, accessory subunit	88					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			GGTGGGTCTTCAGCACCTGCC	0.662													10	101					0	0	0	0	T	67120197	C	T	67120197	2	4	37	1	0	0	0	0	0	0	0	1	12265	813	29	2		2	POLD4	11	67120197	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	308966	67120197	67886319	230	7193											
SLCO2B1	11309	broad.mit.edu	37	chr11	74914390	74914390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccacggcagcgccatcGacaccacctgtgtgcactgg	8	7	11	15	3	0	1	0	1	0	0	2	2	1	1	4	2	2	2	4	2	0	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:74914390G>T	ENST00000289575.5	+	13	2262	c.1867G>T	c.(1867-1869)Gac>Tac	p.D623Y	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.D507Y|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.D601Y|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.D396Y|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.D396Y|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.D479Y	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	623					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CAGCGCCATCGACACCACCTG	0.632													86	141					7.74691e-53	8.19836e-53	1	0	T	74914390	G	T	74914390	3	4	37	1	0	0	0	0	1	0	0	0	14815	1058	37	3	1917	3	SLCO2B1	11	74914390	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	7794193	74914390	60092126	231	7194											
MMP3	4314	broad.mit.edu	37	chr11	102713291	102713291	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagcatcttttggcaaatCtggtgtataattcacaatcc	13	13	6	9	0	3	0	1	0	2	0	4	0	4	0	1	2	2	3	1	2	5	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:102713291C>G	ENST00000299855.5	-	3	626	c.370G>C	c.(370-372)Gat>Cat	p.D124H		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	124					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TTTGGCAAATCTGGTGTATAA	0.398													6	201					0	0	0	0	G	102713291	C	G	102713291	3	3	37	1	0	0	0	0	1	0	0	0	9736	913	32	2	1095	2	MMP3	11	102713291	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	27798901	102713291	32293225	232	7195											
BCO2	83875	broad.mit.edu	37	chr11	112050030	112050030	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtacatgggaaatactcctCagaaaaaagccgtctttggg	13	9	11	8	1	2	1	1	0	1	1	3	2	3	2	2	3	3	1	2	3	6	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:112050030C>G	ENST00000357685.5	+	2	253	c.118C>G	c.(118-120)Cag>Gag	p.Q40E	BCO2_ENST00000393032.2_Missense_Mutation_p.Q6E|BCO2_ENST00000361053.4_Missense_Mutation_p.Q40E|BCO2_ENST00000532593.1_Intron|SDHD_ENST00000532699.1_Intron|SDHD_ENST00000532612.1_3'UTR|BCO2_ENST00000531169.1_Missense_Mutation_p.Q6E|BCO2_ENST00000526088.1_Missense_Mutation_p.Q6E|BCO2_ENST00000438022.1_Missense_Mutation_p.Q6E			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	40					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						AAATACTCCTCAGAAAAAAGC	0.478													48	38					0	0	0	0	G	112050030	C	G	112050030	3	3	37	1	0	0	0	0	1	0	0	0	1389	827	29	2	124	2	BCO2	11	112050030	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	9336739	112050030	22956486	233	7196											
LRTM2	654429	broad.mit.edu	37	chr12	1943732	1943732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggggtcgtgtgcggcGtcgtctgcatcatgatggtg	4	12	17	8	4	2	1	1	1	1	0	4	1	2	1	0	4	3	2	0	4	0	1	rs146537358	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:1943732G>A	ENST00000543818.1	+	5	1800	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.V320I|LRTM2_ENST00000299194.1_Missense_Mutation_p.V320I	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	320						integral to membrane		p.V320I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CGTGTGCGGCGTCGTCTGCAT	0.657													18	171					0	0	0	0	A	1943732	G	A	1943732	3	1	37	1	0	0	0	0	1	0	0	0	9109	1145	40	1	968	1	LRTM2	12	1943732	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08		1943732	131908163	234	7197											
DYRK4	8798	broad.mit.edu	37	chr12	4705861	4705861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaggactttttctactttCgcaatcacttctgcatcacc	9	15	5	12	1	4	1	2	1	2	0	5	2	4	2	1	1	2	2	1	1	3	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:4705861C>T	ENST00000540757.2	+	6	686	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	DYRK4_ENST00000543431.1_Missense_Mutation_p.R176C|DYRK4_ENST00000010132.5_Missense_Mutation_p.R176C	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	176	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R578C(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTTCTACTTTCGCAATCACTT	0.443													42	124					0	0	0	0	T	4705861	C	T	4705861	3	4	37	1	0	0	0	0	1	0	0	0	4894	884	31	1	540	1	DYRK4	12	4705861	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	2762129	4705861	129146034	235	7198											
FAM90A1	55138	broad.mit.edu	37	chr12	8375318	8375318	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggtagctgagcgatcagaGaggacagggtccacacgcgg	10	5	16	10	4	1	2	1	1	0	1	3	5	2	3	1	4	2	2	1	4	1	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:8375318G>A	ENST00000538603.1	-	7	1053	c.495C>T	c.(493-495)ctC>ctT	p.L165L	FAM90A1_ENST00000307435.6_Silent_p.L165L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	165							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGCGATCAGAGAGGACAGGGT	0.547													6	158					0	0	0	0	A	8375318	G	A	8375318	2	1	37	1	0	0	0	0	0	0	0	1	5695	929	33	2		2	FAM90A1	12	8375318	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	3669457	8375318	125476577	236	7199											
PLCZ1	89869	broad.mit.edu	37	chr12	18854526	18854526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacagattccaatacttctGattctttgaatttatcctcc	12	16	3	10	0	2	3	0	2	2	1	5	3	5	3	3	0	2	0	3	0	5	7			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:18854526G>A	ENST00000538330.1	-	5	653	c.272C>T	c.(271-273)tCa>tTa	p.S91L	PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000541695.1_Intron|PLCZ1_ENST00000266505.7_Intron|PLCZ1_ENST00000542762.1_Intron|PLCZ1_ENST00000447925.2_Intron|PLCZ1_ENST00000435379.1_Intron			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	317					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAATACTTCTGATTCTTTGAA	0.458													4	122					0	0	0	0	A	18854526	G	A	18854526	3	1	37	1	0	0	0	0	1	0	0	0	12116	1305	45	2		2	PLCZ1	12	18854526	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	10479208	18854526	114997369	237	7200											
DDN	23109	broad.mit.edu	37	chr12	49391846	49391846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagatccgaggatccagcctCttctttgtgcgccctccgtc	5	12	9	15	3	2	1	0	0	2	1	6	3	5	2	5	1	2	0	5	1	1	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:49391846C>G	ENST00000421952.2	-	2	834	c.813G>C	c.(811-813)aaG>aaC	p.K271N		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	271						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		p.K217K(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GATCCAGCCTCTTCTTTGTGC	0.657													6	270					0	0	0	0	G	49391846	C	G	49391846	3	3	37	1	0	0	0	0	1	0	0	0	4365	912	32	2	1326	2	DDN	12	49391846	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	30537320	49391846	84460049	238	7201											
PRPH	5630	broad.mit.edu	37	chr12	49690818	49690818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagaacctgcaggaggcGgaggagtggtacaagtccaa	13	4	16	8	2	0	1	0	0	0	1	1	5	1	4	2	5	3	2	2	5	5	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:49690818G>A	ENST00000257860.4	+	4	2348	c.849G>A	c.(847-849)gcG>gcA	p.A283A	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	283	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						TGCAGGAGGCGGAGGAGTGGT	0.672											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	103					0	0	0	0	A	49690818	G	A	49690818	2	1	37	1	0	0	0	0	0	0	0	1	12656	1103	39	1		1	PRPH	12	49690818	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	298972	49690818	84161077	239	7202											
CSAD	51380	broad.mit.edu	37	chr12	53573578	53573578	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacagcagaaatgaggacttCagtggaattgacatctcctt	13	11	9	8	0	2	3	1	2	1	1	3	5	2	5	1	2	2	1	1	2	3	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:53573578C>T	ENST00000267085.4	-	2	248	c.15G>A	c.(13-15)ctG>ctA	p.L5L	CSAD_ENST00000542115.1_Intron|CSAD_ENST00000453446.2_5'UTR|CSAD_ENST00000379843.3_5'UTR|CSAD_ENST00000444623.1_Intron|CSAD_ENST00000379846.1_Intron	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	0					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ATGAGGACTTCAGTGGAATTG	0.388													9	409					0	0	0	0	T	53573578	C	T	53573578	2	4	37	1	0	0	0	0	0	0	0	1	3955	813	29	2		2	CSAD	12	53573578	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	3882760	53573578	80278317	240	7203											
AAAS	8086	broad.mit.edu	37	chr12	53702757	53702757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttacctgacagcgccctGatagagtaggccacctctca	9	9	8	15	1	2	3	1	2	2	1	3	3	2	3	4	1	2	1	4	1	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:53702757G>A	ENST00000209873.4	-	10	1148	c.983C>T	c.(982-984)tCa>tTa	p.S328L	AAAS_ENST00000550286.1_Missense_Mutation_p.S204L|AAAS_ENST00000394384.3_Missense_Mutation_p.S295L	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	328					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						ACAGCGCCCTGATAGAGTAGG	0.522													16	439					0	0	0	0	A	53702757	G	A	53702757	3	1	37	1	0	0	0	0	1	0	0	0	8	1294	45	2	685	2	AAAS	12	53702757	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	129179	53702757	80149138	241	7204											
AAAS	8086	broad.mit.edu	37	chr12	53702953	53702953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactcaccgaaagacagctGaaggagtggtagccaggatt	13	6	12	10	1	1	2	1	1	0	1	1	5	1	4	3	3	2	2	3	3	3	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:53702953G>A	ENST00000209873.4	-	9	1088	c.923C>T	c.(922-924)tCa>tTa	p.S308L	AAAS_ENST00000550286.1_Missense_Mutation_p.S184L|AAAS_ENST00000394384.3_Missense_Mutation_p.S275L	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	308					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AAAGACAGCTGAAGGAGTGGT	0.577													26	583					0	0	0	0	A	53702953	G	A	53702953	3	1	37	1	0	0	0	0	1	0	0	0	8	1294	45	2	749	2	AAAS	12	53702953	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	196	53702953	80148942	242	7205											
RDH5	5959	broad.mit.edu	37	chr12	56118279	56118279	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acctgccagccagcctggtgGatgctgtgctcacctgggtc	5	9	13	14	0	1	0	1	0	0	0	2	1	1	1	5	3	5	2	5	3	0	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:56118279G>C	ENST00000257895.5	+	5	1059	c.907G>C	c.(907-909)Gat>Cat	p.D303H	RDH5_ENST00000547072.1_Missense_Mutation_p.D206H|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.D303H	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	303					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					NADH(DB00157)|Vitamin A(DB00162)	CAGCCTGGTGGATGCTGTGCT	0.582											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	306					0	0	0	0	C	56118279	G	C	56118279	3	2	37	1	0	0	0	0	1	0	0	0	13277	1174	41	2	921	2	RDH5	12	56118279	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2415326	56118279	77733616	243	7206											
TIMELESS	8914	broad.mit.edu	37	chr12	56812008	56812008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctttacagtgctcctcatCagagccttgctctccaggga	7	12	8	14	0	4	1	2	0	2	1	6	2	5	2	3	1	4	2	3	1	1	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:56812008C>G	ENST00000229201.4	-	27	3515	c.3361G>C	c.(3361-3363)Gat>Cat	p.D1121H	TIMELESS_ENST00000553532.1_Missense_Mutation_p.D1122H|TIMELESS_ENST00000554616.1_Missense_Mutation_p.D619H	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1122					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGCTCCTCATCAGAGCCTTGC	0.582													26	882					0	0	0	0	G	56812008	C	G	56812008	3	3	37	1	0	0	0	0	1	0	0	0	15998	826	29	2	274	2	TIMELESS	12	56812008	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	693729	56812008	77039887	244	7207											
GPR182	11318	broad.mit.edu	37	chr12	57389816	57389816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtgctggctgccctatCatgtgaccctgctgctgctc	4	13	10	14	0	2	1	2	1	0	0	3	1	2	1	2	1	5	5	2	1	1	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:57389816C>A	ENST00000300098.1	+	2	1042	c.823C>A	c.(823-825)Cat>Aat	p.H275N		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	275						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GCTGCCCTATCATGTGACCCT	0.607													11	519					0.00010058	0.000104017	1	0	A	57389816	C	A	57389816	3	1	37	1	0	0	0	0	1	0	0	0	6726	826	29	2	825	2	GPR182	12	57389816	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	577808	57389816	76462079	245	7208											
PPM1H	57460	broad.mit.edu	37	chr12	63225906	63225906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcttaccgagttctccttCagctgcagcccttccccatt	5	13	7	16	1	3	0	1	0	2	0	5	1	4	0	5	1	4	3	5	1	1	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:63225906C>T	ENST00000228705.6	-	2	699	c.399G>A	c.(397-399)ctG>ctA	p.L133L		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	133							phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		AGTTCTCCTTCAGCTGCAGCC	0.532													39	44					0	0	0	0	T	63225906	C	T	63225906	2	4	37	1	0	0	0	0	0	0	0	1	12417	813	29	2		2	PPM1H	12	63225906	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	5836090	63225906	70625989	246	7209											
KCNMB4	27345	broad.mit.edu	37	chr12	70824287	70824287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatgatgtgcttctgcatCgcactcatgatgagattgtc	9	13	10	9	1	2	4	1	3	1	2	4	5	2	4	0	0	2	3	0	0	0	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:70824287C>T	ENST00000258111.4	+	3	946	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	163					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCTTCTGCATCGCACTCATGA	0.483													15	429					0	0	0	0	T	70824287	C	T	70824287	3	4	37	1	0	0	0	0	1	0	0	0	8130	884	31	1	497	1	KCNMB4	12	70824287	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	7598381	70824287	63027608	247	7210											
PWP1	11137	broad.mit.edu	37	chr12	108082473	108082473	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgcacgcacccaggcacgCccaagagagcccctggagga	11	2	13	15	2	0	1	0	0	0	1	0	4	0	3	4	3	2	3	4	3	1	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:108082473C>T	ENST00000412830.3	+	3	381	c.213C>T	c.(211-213)cgC>cgT	p.R71R	PWP1_ENST00000541166.1_Silent_p.R9R	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	71					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						CCCAGGCACGCCCAAGAGAGC	0.522													39	100					0	0	0	0	T	108082473	C	T	108082473	2	4	37	1	0	0	0	0	0	0	0	1	12925	726	26	4		4	PWP1	12	108082473	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	37258186	108082473	25769422	248	7211											
SART3	9733	broad.mit.edu	37	chr12	108939002	108939002	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatgtaaaccaacagacgaGagagccctttcaaacacgga	17	6	8	10	2	1	2	1	0	0	2	1	5	1	3	2	1	4	1	2	1	5	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:108939002G>C	ENST00000228284.3	-	4	876	c.642C>G	c.(640-642)ctC>ctG	p.L214L	SART3_ENST00000431469.2_Silent_p.L214L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	214					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CAACAGACGAGAGAGCCCTTT	0.507									Porokeratosis				145	120					0	0	0	0	C	108939002	G	C	108939002	2	2	37	1	0	0	0	0	0	0	0	1	13933	929	33	2		2	SART3	12	108939002	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	856529	108939002	24912893	249	7212											
ACACB	32	broad.mit.edu	37	chr12	109647006	109647006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagctcatgatgaccctcCggcacccgtcactgccgctg	8	7	10	16	3	2	3	2	2	0	1	3	3	3	3	4	1	2	3	4	1	1	0	rs146548721		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:109647006C>T	ENST00000338432.7	+	21	3216	c.3097C>T	c.(3097-3099)Cgg>Tgg	p.R1033W	ACACB_ENST00000377848.3_Missense_Mutation_p.R1033W|ACACB_ENST00000377854.5_Missense_Mutation_p.R1033W			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1033					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GATGACCCTCCGGCACCCGTC	0.662													8	24					0	0	0	0	T	109647006	C	T	109647006	3	4	37	1	0	0	0	0	1	0	0	0	107	643	23	1	3175	1	ACACB	12	109647006	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	708004	109647006	24204889	250	7213											
GCN1L1	10985	broad.mit.edu	37	chr12	120594339	120594339	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgtccacctcctcctgctCtgcaaaggcacagccatcat	9	8	6	18	1	2	0	1	0	1	0	5	0	5	0	5	1	3	3	5	1	1	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:120594339C>G	ENST00000300648.6	-	28	3250	c.3238G>C	c.(3238-3240)Gag>Cag	p.E1080Q		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1080					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCCTGCTCTGCAAAGGCA	0.597													3	87					0	0	0	0	G	120594339	C	G	120594339	3	3	37	1	0	0	0	0	1	0	0	0	6348	922	32	2	4901	2	GCN1L1	12	120594339	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	10947333	120594339	13257556	251	7214											
PXN	5829	broad.mit.edu	37	chr12	120652792	120652792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccacgtcttccccatggCggtcacaacctgaggaggag	8	7	13	13	2	2	1	1	1	1	0	3	3	3	3	4	4	2	0	4	4	1	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:120652792C>T	ENST00000397506.3	-	6	1603	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	PXN_ENST00000538144.1_5'UTR|PXN_ENST00000424649.2_Missense_Mutation_p.A338T|PXN_ENST00000536957.1_Missense_Mutation_p.A370T|PXN_ENST00000267257.7_Missense_Mutation_p.A386T|PXN_ENST00000458477.2_Missense_Mutation_p.A205T|PXN_ENST00000228307.7_Missense_Mutation_p.A372T			P49023	PAXI_HUMAN	paxillin	372					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCCCATGGCGGTCACAACC	0.662													19	12					0	0	0	0	T	120652792	C	T	120652792	3	4	37	1	0	0	0	0	1	0	0	0	12934	768	27	1	677	1	PXN	12	120652792	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	58453	120652792	13199103	252	7215											
WDR66	144406	broad.mit.edu	37	chr12	122359293	122359293	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagaagaggaggaacctaatCcaaattataaagaagtagaa	22	6	9	4	0	0	4	0	0	0	4	1	6	1	6	2	2	1	1	2	2	11	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:122359293C>G	ENST00000288912.4	+	2	936	c.82C>G	c.(82-84)Cca>Gca	p.P28A	WDR66_ENST00000397454.2_Missense_Mutation_p.P28A|RP11-87C12.2_ENST00000544911.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	28	Glu-rich.						calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GGAACCTAATCCAAATTATAA	0.443													3	78					0	0	0	0	G	122359293	C	G	122359293	3	3	37	1	0	0	0	0	1	0	0	0	17413	855	30	2	84	2	WDR66	12	122359293	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1706501	122359293	11492602	253	7216											
LRRC43	254050	broad.mit.edu	37	chr12	122677376	122677376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtcatcgaagacattgttGaagaggttactgaagaggtc	13	10	12	6	2	1	5	1	2	0	3	3	6	1	5	0	2	1	2	0	2	4	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:122677376G>A	ENST00000339777.4	+	7	1202	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	LRRC43_ENST00000425921.1_Missense_Mutation_p.E207K	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	392	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		AGACATTGTTGAAGAGGTTAC	0.517													7	192					0	0	0	0	A	122677376	G	A	122677376	3	1	37	1	0	0	0	0	1	0	0	0	9065	1291	45	2	1200	2	LRRC43	12	122677376	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	318083	122677376	11174519	254	7217											
XPO4	64328	broad.mit.edu	37	chr13	21429888	21429888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctagtagaatctgttcccGaacatacttttgaaggctgt	10	14	9	8	1	1	2	0	1	1	1	2	3	2	2	1	1	3	4	1	1	6	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:21429888G>A	ENST00000400602.2	-	4	369	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000255305.6_Missense_Mutation_p.R112W	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	112					protein transport	cytoplasm|nucleus	protein binding	p.R85W(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATCTGTTCCCGAACATACTTT	0.328													9	206					0	0	0	0	A	21429888	G	A	21429888	3	1	37	1	0	0	0	0	1	0	0	0	17542	1057	37	1	3201	1	XPO4	13	21429888	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08		21429888	93739990	255	7218											
SACS	26278	broad.mit.edu	37	chr13	23906424	23906424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatctaattgtttgccctcaGaatttttaaatatgcggctc	10	16	7	8	1	2	1	1	0	1	1	3	2	2	1	1	1	2	2	1	1	5	7			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:23906424G>C	ENST00000382298.3	-	10	12179	c.11591C>G	c.(11590-11592)tCt>tGt	p.S3864C	SACS_ENST00000382292.3_Missense_Mutation_p.S3864C|SACS_ENST00000402364.1_Missense_Mutation_p.S3114C	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3864					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTGCCCTCAGAATTTTTAAA	0.373													13	231					0	0	0	0	C	23906424	G	C	23906424	3	2	37	1	0	0	0	0	1	0	0	0	13889	942	33	2	2152	2	SACS	13	23906424	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2476536	23906424	91263454	256	7219											
ENOX1	55068	broad.mit.edu	37	chr13	43930093	43930093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagagcggcttcgtgctccGagtagtgcattatggcaggc	7	9	15	10	3	0	1	0	0	0	1	2	2	1	1	1	3	3	6	1	3	2	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:43930093G>A	ENST00000261488.6	-	8	1362	c.785C>T	c.(784-786)tCg>tTg	p.S262L	ENOX1_ENST00000412891.1_Missense_Mutation_p.S262L|ENOX1_ENST00000540032.1_Missense_Mutation_p.S75L	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	262					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTCGTGCTCCGAGTAGTGCAT	0.637													14	207					0	0	0	0	A	43930093	G	A	43930093	3	1	37	1	0	0	0	0	1	0	0	0	5164	1059	37	1	1186	1	ENOX1	13	43930093	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	20023669	43930093	71239785	257	7220											
RCBTB1	55213	broad.mit.edu	37	chr13	50125565	50125565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggcatacagcaagccctCatctgttagtgctagagtat	11	10	9	11	0	2	1	1	0	1	1	2	1	2	1	2	1	4	5	2	1	5	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:50125565C>T	ENST00000378302.2	-	8	1011	c.751G>A	c.(751-753)Gag>Aag	p.E251K	RCBTB1_ENST00000546015.1_Missense_Mutation_p.E251K|RCBTB1_ENST00000258646.3_Missense_Mutation_p.E251K	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	251					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		AGCAAGCCCTCATCTGTTAGT	0.473													4	115					0	0	0	0	T	50125565	C	T	50125565	3	4	37	1	0	0	0	0	1	0	0	0	13253	835	29	2	868	2	RCBTB1	13	50125565	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	6195472	50125565	65044313	258	7221											
FAM155A	728215	broad.mit.edu	37	chr13	108518355	108518355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcccccccggccgcccccCgactccagttcctggcgcac	3	5	9	24	5	0	0	0	0	0	0	3	1	3	0	9	2	0	2	9	2	0	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:108518355C>T	ENST00000375915.2	-	1	728	c.590G>A	c.(589-591)cGg>cAg	p.R197Q		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	197						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCCGCCCCCCGACTCCAGTT	0.632													29	217					0	0	0	0	T	108518355	C	T	108518355	3	4	37	1	0	0	0	0	1	0	0	0	5506	652	23	1	798	1	FAM155A	13	108518355	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	58392790	108518355	6651523	259	7222											
CPNE6	9362	broad.mit.edu	37	chr14	24545039	24545039	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctctccctacctccaggtgGagaaggtgcacaccttcctg	7	9	9	16	0	1	1	0	0	1	1	4	2	3	1	6	3	2	1	6	3	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:24545039G>C	ENST00000397016.2	+	11	1179	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	CPNE6_ENST00000216775.2_Missense_Mutation_p.E290Q|CPNE6_ENST00000537691.1_Missense_Mutation_p.E345Q			O95741	CPNE6_HUMAN	copine VI (neuronal)	290					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCTCCAGGTGGAGAAGGTGCA	0.602													3	100					0	0	0	0	C	24545039	G	C	24545039	3	2	37	1	0	0	0	0	1	0	0	0	3846	1175	41	2	902	2	CPNE6	14	24545039	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08		24545039	82804501	260	7223											
SYT16	83851	broad.mit.edu	37	chr14	62547795	62547795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagagagggcccaaccccGtcttcagggagaaggtcacc	11	5	12	13	1	3	2	2	0	1	2	3	4	3	2	4	3	2	0	4	3	3	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:62547795G>A	ENST00000430451.2	+	4	1434	c.1237G>A	c.(1237-1239)Gtc>Atc	p.V413I	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	413	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GCCCAACCCCGTCTTCAGGGA	0.582													22	28					0	0	0	0	A	62547795	G	A	62547795	3	1	37	1	0	0	0	0	1	0	0	0	15563	1145	40	1	1251	1	SYT16	14	62547795	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	38002756	62547795	44801745	261	7224											
CALM1	801	broad.mit.edu	37	chr14	90870274	90870274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatgaaagatacagatagtGaagaagaaatccgtgaggca	20	6	11	4	1	0	7	0	3	0	4	1	7	1	7	1	1	1	1	1	1	7	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:90870274G>A	ENST00000356978.4	+	4	495	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000447653.3_Missense_Mutation_p.E84K|CALM1_ENST00000553542.1_Missense_Mutation_p.E47K|CALM1_ENST00000544280.2_Missense_Mutation_p.E47K	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	83	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	TACAGATAGTGAAGAAGAAAT	0.383													33	21					0	0	0	0	A	90870274	G	A	90870274	3	1	37	1	0	0	0	0	1	0	0	0	2609	1291	45	2	261	2	CALM1	14	90870274	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	28322479	90870274	16479266	262	7225											
RPS6KA5	9252	broad.mit.edu	37	chr14	91366509	91366509	+	Frame_Shift_Del	DEL	C	C	-																															tttttttatgcacacactttCgacaaattgaaaaactacct																										TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:91366509delC	ENST00000261991.3	-	11	1495	c.1322delG	c.(1321-1323)cafs	p.R441fs	RPS6KA5_ENST00000536315.2_Frame_Shift_Del_p.R362fs|RPS6KA5_ENST00000418736.2_Frame_Shift_Del_p.R441fs	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	441	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CACACACTTTCGACAAATTGA	0.333													9	136	---	---	---	---					-	91366509	C	-	91366509	7	5	37	1	0	1	0	1	0	0	0	0	13739	884	31	0	1120	0	RPS6KA5	14	91366509	Frame_Shift_Del	DEL	C	TCGA-BB-4223-01A-01D-1434-08	496235	91366509	15983031	263	7226											
DYNC1H1	1778	broad.mit.edu	37	chr14	102452268	102452268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggatcaccgctcgccttcGggatcagcttggcacagcca	7	7	11	16	4	2	0	2	0	0	0	4	2	2	2	4	3	2	3	4	3	0	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:102452268G>A	ENST00000360184.4	+	8	1870	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	569	Interaction with DYNC1I2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCTCGCCTTCGGGATCAGCTT	0.547													38	27					0	0	0	0	A	102452268	G	A	102452268	3	1	37	1	0	0	0	0	1	0	0	0	4877	1116	39	1	1736	1	DYNC1H1	14	102452268	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	11085759	102452268	4897272	264	7227											
TYRO3	7301	broad.mit.edu	37	chr15	41864735	41864735	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctgcatgccttcctgctCgcctcccggattggggagaa	6	9	12	14	2	0	1	0	0	0	1	3	4	2	2	5	3	3	2	5	3	1	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:41864735C>T	ENST00000263798.3	+	15	2072	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	TYRO3_ENST00000559066.1_Silent_p.L571L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	616	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCTTCCTGCTCGCCTCCCGGA	0.617													4	83					0	0	0	0	T	41864735	C	T	41864735	2	4	37	1	0	0	0	0	0	0	0	1	16910	871	31	1		1	TYRO3	15	41864735	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08		41864735	60666657	265	7228											
VPS39	23339	broad.mit.edu	37	chr15	42457948	42457948	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccagacccttaaaattctCtattaagaagccgaggactc	14	9	7	11	1	1	2	0	0	1	2	3	4	1	3	3	1	2	0	3	1	5	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:42457948C>G	ENST00000318006.5	-	17	1909	c.1747G>C	c.(1747-1749)Gag>Cag	p.E583Q	VPS39_ENST00000348544.4_Missense_Mutation_p.E594Q	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	594					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTAAAATTCTCTATTAAGAAG	0.443													8	148					0	0	0	0	G	42457948	C	G	42457948	3	3	37	1	0	0	0	0	1	0	0	0	17305	922	32	2	916	2	VPS39	15	42457948	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	593213	42457948	60073444	266	7229											
RFX7	64864	broad.mit.edu	37	chr15	56387891	56387891	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatggtagctgctgaaagctGttccacaattggtttcttta	9	16	9	7	0	1	1	0	1	1	0	2	1	2	1	1	2	3	6	1	2	5	7			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:56387891G>A	ENST00000423270.1	-	9	2034	c.2035C>T	c.(2035-2037)Cag>Tag	p.Q679*	RFX7_ENST00000422057.1_Nonsense_Mutation_p.Q582*|RFX7_ENST00000317318.6_Nonsense_Mutation_p.Q679*|RFX7_ENST00000559447.2_Nonsense_Mutation_p.Q582*	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	582					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCTGAAAGCTGTTCCACAATT	0.448													10	197					0	0	0	0	A	56387891	G	A	56387891	4	1	37	1	0	0	0	0	0	1	0	0	13350	1386	48	4	2351	4	RFX7	15	56387891	Nonsense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	13929943	56387891	46143501	267	7230											
HERC1	8925	broad.mit.edu	37	chr15	63972741	63972741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggtgtcggtacctctcCatttttcccaaaagaaatgg	11	12	9	9	1	1	1	0	0	1	1	4	1	2	1	3	3	1	1	3	3	5	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:63972741C>T	ENST00000443617.2	-	35	6547	c.6460G>A	c.(6460-6462)Gga>Aga	p.G2154R	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2154	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGTACCTCTCCATTTTTCCCA	0.388													4	74					0	0	0	0	T	63972741	C	T	63972741	3	4	37	1	0	0	0	0	1	0	0	0	7107	603	21	4	8301	4	HERC1	15	63972741	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	7584850	63972741	38558651	268	7231											
PTPLAD1	51495	broad.mit.edu	37	chr15	65847227	65847227	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatttctttctttatagctCaaggacatggtgccaaagga	12	13	8	8	0	3	0	1	0	2	0	3	2	3	2	1	3	2	1	1	3	4	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:65847227C>G	ENST00000261875.5	+	3	299	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.Q45E|PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.Q83E|PTPLAD1_ENST00000569894.1_5'UTR|PTPLAD1_ENST00000568793.1_Missense_Mutation_p.Q20E|PTPLAD1_ENST00000566511.1_5'UTR	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	45	CS.				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTTATAGCTCAAGGACATGG	0.433													7	254					0	0	0	0	G	65847227	C	G	65847227	3	3	37	1	0	0	0	0	1	0	0	0	12855	827	29	2	143	2	PTPLAD1	15	65847227	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1874486	65847227	36684165	269	7232											
ISLR2	57611	broad.mit.edu	37	chr15	74425126	74425126	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggccctgtggttggtcTgggcgcttctaggagtggcc	2	12	17	10	2	2	0	0	0	2	0	3	1	2	1	2	6	0	2	2	6	1	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:74425126T>G	ENST00000361742.3	+	4	800	c.31T>G	c.(31-33)Tgg>Ggg	p.W11G	ISLR2_ENST00000419208.1_Missense_Mutation_p.W11G|ISLR2_ENST00000565540.1_Missense_Mutation_p.W11G|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Missense_Mutation_p.W11G|ISLR2_ENST00000565159.1_Missense_Mutation_p.W11G|ISLR2_ENST00000453268.2_Missense_Mutation_p.W11G|ISLR2_ENST00000435464.1_Missense_Mutation_p.W11G	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	11					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTGGTTGGTCTGGGCGCTTCT	0.607													40	58					0	0	0	0	G	74425126	T	G	74425126	3	3	37	1	0	0	0	0	1	0	0	0	7912	1580	55	5	33	5	ISLR2	15	74425126	Missense_Mutation	SNP	T	TCGA-BB-4223-01A-01D-1434-08	8577899	74425126	28106266	270	7233											
COX5A	9377	broad.mit.edu	37	chr15	75216032	75216032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcccagttcctccggagtgGagattcccagttcatttaaa	9	11	10	11	1	1	1	1	0	0	1	4	3	4	2	4	3	0	2	4	3	2	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:75216032G>C	ENST00000322347.6	-	4	572	c.419C>G	c.(418-420)tCc>tGc	p.S140C	COX5A_ENST00000564811.1_Missense_Mutation_p.S140C|COX5A_ENST00000562233.1_Intron|COX5A_ENST00000567270.1_Missense_Mutation_p.S101C|COX5A_ENST00000568783.1_Intron|COX5A_ENST00000568517.1_Missense_Mutation_p.S59C	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	140					respiratory electron transport chain	mitochondrial inner membrane	cytochrome-c oxidase activity|electron carrier activity|metal ion binding			endometrium(1)|large_intestine(1)|pancreas(1)	3						CTCCGGAGTGGAGATTCCCAG	0.468													3	140					0	0	0	0	C	75216032	G	C	75216032	3	2	37	1	0	0	0	0	1	0	0	0	3802	1174	41	2	37	2	COX5A	15	75216032	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	790906	75216032	27315360	271	7234											
PLIN1	5346	broad.mit.edu	37	chr15	90210857	90210857	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaacttgttctcctcagtCtccaattcttcctcctcctc	5	16	3	17	0	4	1	1	1	3	0	10	1	7	1	5	0	1	1	5	0	2	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:90210857C>T	ENST00000300055.5	-	7	1104	c.939G>A	c.(937-939)gaG>gaA	p.E313E	PLIN1_ENST00000430628.2_Silent_p.E313E	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	313	Poly-Glu.				triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						tctcctcagtctccaattctt	0.607													5	52					0	0	0	0	T	90210857	C	T	90210857	2	4	37	1	0	0	0	0	0	0	0	1	12161	912	32	2		2	PLIN1	15	90210857	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	14994825	90210857	12320535	272	7235											
MEFV	4210	broad.mit.edu	37	chr16	3293508	3293508	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggatccatgctgtcttgtctCcaacctccacctcccagtaa	8	11	6	16	0	2	0	0	0	2	0	6	1	5	1	6	1	2	2	6	1	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:3293508C>G	ENST00000219596.1	-	10	2018	c.1979G>C	c.(1978-1980)gGa>gCa	p.G660A	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.G449A|MEFV_ENST00000339854.4_Missense_Mutation_p.G480A	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	660	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGTCTTGTCTCCAACCTCCAC	0.542													5	178					0	0	0	0	G	3293508	C	G	3293508	3	3	37	1	0	0	0	0	1	0	0	0	9528	855	30	2	370	2	MEFV	16	3293508	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08		3293508	87061245	273	7236											
PPL	5493	broad.mit.edu	37	chr16	4933779	4933779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcgaggtctttgtccttgGagagcctcttgaggtcatcc	5	14	11	11	1	4	2	1	1	3	1	7	4	6	2	3	3	1	0	3	3	0	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:4933779G>T	ENST00000345988.2	-	22	4966	c.4877C>A	c.(4876-4878)tCc>tAc	p.S1626Y	PPL_ENST00000590782.2_Missense_Mutation_p.S1624Y	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1626					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TTTGTCCTTGGAGAGCCTCTT	0.622													4	115					0.014758	0.0150227	1	0	T	4933779	G	T	4933779	3	4	37	1	0	0	0	0	1	0	0	0	12410	1174	41	2	397	2	PPL	16	4933779	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1640271	4933779	85420974	274	7237											
MVP	9961	broad.mit.edu	37	chr16	29853148	29853148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggtgtacgactaccgaGagaagcgagcccggtgagtg	10	6	16	9	4	0	2	0	1	0	1	0	6	0	2	2	2	5	2	2	2	3	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:29853148G>A	ENST00000357402.5	+	9	1561	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	MVP_ENST00000395353.1_Missense_Mutation_p.E475K|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	475					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGACTACCGAGAGAAGCGAGC	0.662													4	73					0	0	0	0	A	29853148	G	A	29853148	3	1	37	1	0	0	0	0	1	0	0	0	10066	943	33	2	1453	2	MVP	16	29853148	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	24919369	29853148	60501605	275	7238											
ALDOA	226	broad.mit.edu	37	chr16	30080707	30080707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctgccagtatgtgaccgaGaaggtaaatggctacctgcc	10	8	12	11	2	0	2	0	1	0	1	0	3	0	2	4	2	3	4	4	2	5	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:30080707G>C	ENST00000566897.1	+	9	1773	c.621G>C	c.(619-621)gaG>gaC	p.E207D	ALDOA_ENST00000395248.1_Missense_Mutation_p.E261D|ALDOA_ENST00000338110.5_Missense_Mutation_p.E207D|ALDOA_ENST00000395240.3_Missense_Mutation_p.E211D|ALDOA_ENST00000569798.1_Missense_Mutation_p.E207D|ALDOA_ENST00000563060.2_Missense_Mutation_p.E207D|ALDOA_ENST00000569545.1_Missense_Mutation_p.E207D|ALDOA_ENST00000564595.2_Missense_Mutation_p.E261D|ALDOA_ENST00000564546.1_Missense_Mutation_p.E207D|ALDOA_ENST00000412304.2_Missense_Mutation_p.E207D			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	207			E -> K (in GSD12; reduces thermal stability; 3-fold decrease in catalytic efficiency mostly due to reduced substrate affinity).		actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						ATGTGACCGAGAAGGTAAATG	0.622											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	160					0	0	0	0	C	30080707	G	C	30080707	3	2	37	1	0	0	0	0	1	0	0	0	507	933	33	2	639	2	ALDOA	16	30080707	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	227559	30080707	60274046	276	7239											
SRCAP	10847	broad.mit.edu	37	chr16	30727497	30727497	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaagcgtcaacgctgtctCtatgatgacttcatggcaca	10	11	8	12	2	3	2	2	2	1	0	5	2	4	2	1	1	2	2	1	1	3	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:30727497C>G	ENST00000262518.4	+	17	2989	c.2604C>G	c.(2602-2604)ctC>ctG	p.L868L	SRCAP_ENST00000395059.2_Silent_p.L868L|SRCAP_ENST00000344771.4_Silent_p.L868L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	868					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AACGCTGTCTCTATGATGACT	0.512													10	173					0	0	0	0	G	30727497	C	G	30727497	2	3	37	1	0	0	0	0	0	0	0	1	15225	900	32	2		2	SRCAP	16	30727497	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	646790	30727497	59627256	277	7240											
CNGB1	1258	broad.mit.edu	37	chr16	57983300	57983300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctcctcctcttcctcttCctcctcctcatcttctttct	1	19	0	21	0	6	0	1	0	5	0	13	0	13	0	7	0	0	0	7	0	0	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:57983300C>T	ENST00000564448.1	-	14	1120	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	CNGB1_ENST00000251102.8_Missense_Mutation_p.E360K			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	360	Poly-Glu.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						tcttcctcttcctcctcctca	0.587													4	146					0	0	0	0	T	57983300	C	T	57983300	3	4	37	1	0	0	0	0	1	0	0	0	3630	864	30	2	2757	2	CNGB1	16	57983300	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	27255803	57983300	32371453	278	7241											
KCTD19	146212	broad.mit.edu	37	chr16	67329284	67329284	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgatccagtacactctctGagggttggacagcagttctg	8	12	12	9	0	2	2	0	2	2	0	4	3	3	3	1	2	2	4	1	2	1	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:67329284G>C	ENST00000304372.5	-	9	1328	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	425	BTB 2.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TACACTCTCTGAGGGTTGGAC	0.527													3	93					0	0	0	0	C	67329284	G	C	67329284	3	2	37	1	0	0	0	0	1	0	0	0	8159	1299	45	2	1539	2	KCTD19	16	67329284	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	9345984	67329284	23025469	279	7242											
CIRH1A	84916	broad.mit.edu	37	chr16	69184786	69184786	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagaattacgatgccgctctCcgaaaaatcacctttcccca	13	9	5	14	3	2	1	1	0	1	1	4	3	3	1	5	0	2	1	5	0	5	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:69184786C>T	ENST00000563094.1	+	8	1015	c.981C>T	c.(979-981)ctC>ctT	p.L327L	CIRH1A_ENST00000352319.4_Silent_p.L327L|CIRH1A_ENST00000314423.7_Silent_p.L327L			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	327						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ATGCCGCTCTCCGAAAAATCA	0.527													9	179					0	0	0	0	T	69184786	C	T	69184786	2	4	37	1	0	0	0	0	0	0	0	1	3463	842	30	2		2	CIRH1A	16	69184786	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1855502	69184786	21169967	280	7243											
RFWD3	55159	broad.mit.edu	37	chr16	74660297	74660297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggatgttgccatcattctCtgggctttggaaaatggcat	9	13	11	8	0	2	0	1	0	1	0	3	2	2	2	1	4	1	3	1	4	2	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:74660297C>T	ENST00000361070.4	-	12	2222	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	RFWD3_ENST00000571750.1_Missense_Mutation_p.E709K	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	709					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CCATCATTCTCTGGGCTTTGG	0.423													12	387					0	0	0	0	T	74660297	C	T	74660297	3	4	37	1	0	0	0	0	1	0	0	0	13343	922	32	2	207	2	RFWD3	16	74660297	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	5475511	74660297	15694456	281	7244											
ZFP1	162239	broad.mit.edu	37	chr16	75203689	75203689	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcccataaggccaacctCatcaaacatcagagaattca	15	9	4	13	0	5	1	4	0	1	1	6	2	5	1	3	1	2	0	3	1	4	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:75203689C>T	ENST00000393430.2	+	4	805	c.681C>T	c.(679-681)ctC>ctT	p.L227L	ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Silent_p.L194L|ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000570010.1_Silent_p.L227L			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						AGGCCAACCTCATCAAACATC	0.423													25	52					0	0	0	0	T	75203689	C	T	75203689	2	4	37	1	0	0	0	0	0	0	0	1	17731	813	29	2		2	ZFP1	16	75203689	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	543392	75203689	15151064	282	7245											
TMEM231	79583	broad.mit.edu	37	chr16	75579249	75579249	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaatgagaagcgctcttaCgttgtatcgggcatctaggc	10	10	12	9	3	2	1	0	1	2	1	3	3	2	1	0	2	2	4	0	2	5	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:75579249C>T	ENST00000398114.2	-	3	708		c.e3+1		RP11-77K12.7_ENST00000460606.1_Splice_Site|TMEM231_ENST00000258173.6_Splice_Site|RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000569294.1_Splice_Site|TMEM231_ENST00000565067.1_Intron	NM_001077416.1	NP_001070884.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231							integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGCGCTCTTACGTTGTATCGG	0.507													71	148					0	0	0	0	T	75579249	C	T	75579249	5	4	37	1	0	0	0	0	0	0	1	0	16243	550	19	1	383	1	TMEM231	16	75579249	Splice_Site	SNP	C	TCGA-BB-4223-01A-01D-1434-08	375560	75579249	14775504	283	7246											
CENPN	55839	broad.mit.edu	37	chr16	81045655	81045655	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtctgaaaatcaactgcaGactgtaaatttccgacagag	14	11	8	8	1	2	3	1	1	1	2	3	4	3	3	1	0	2	2	1	0	5	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:81045655G>A	ENST00000305850.5	+	2	901	c.111G>A	c.(109-111)caG>caA	p.Q37Q	CENPN_ENST00000439957.3_Silent_p.Q37Q|CENPN_ENST00000428963.2_Silent_p.Q37Q|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000393335.3_Silent_p.Q37Q|CENPN_ENST00000569461.1_3'UTR|CENPN_ENST00000299572.5_Silent_p.Q37Q	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	37					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						ATCAACTGCAGACTGTAAATT	0.413													37	63					0	0	0	0	A	81045655	G	A	81045655	2	1	37	1	0	0	0	0	0	0	0	1	3267	933	33	2		2	CENPN	16	81045655	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	5466406	81045655	9309098	284	7247											
RNMTL1	55178	broad.mit.edu	37	chr17	686565	686566	+	Frame_Shift_Ins	INS	-	-	G																															gtaacgccacaaggaataatINSgggttagtgattacccagtg																										TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:686565_686566insG	ENST00000304478.4	+	2	663_664	c.557_558insG	c.(556-558)aggfs	p.R186fs		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	186					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CAAGGAATAATGGGTTAGTGAT	0.475													9	41	---	---	---	---					G	686566	-	G	686565	7	5	37	1	0	1	1	0	0	0	0	0	13592	1464	51	0	563	0	RNMTL1	17	686565	Frame_Shift_Ins	INS	-	TCGA-BB-4223-01A-01D-1434-08		686565	80508645	285	7248											
NLRP1	22861	broad.mit.edu	37	chr17	5462809	5462809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggatgaagagcagccgctCtggcctagacaggatctgtc	10	7	14	10	1	2	3	0	1	2	2	3	6	2	5	2	3	2	2	2	3	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:5462809C>G	ENST00000345221.3	-	4	1761	c.1207G>C	c.(1207-1209)Gag>Cag	p.E403Q	NLRP1_ENST00000577119.1_Missense_Mutation_p.E403Q|NLRP1_ENST00000262467.5_Missense_Mutation_p.E403Q|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.E403Q|NLRP1_ENST00000269280.4_Missense_Mutation_p.E403Q|NLRP1_ENST00000572272.1_Missense_Mutation_p.E403Q	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	403	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCAGCCGCTCTGGCCTAGAC	0.597													4	95					0	0	0	0	G	5462809	C	G	5462809	3	3	37	1	0	0	0	0	1	0	0	0	10541	922	32	2	3345	2	NLRP1	17	5462809	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	4776244	5462809	75732401	286	7249											
SAT2	112483	broad.mit.edu	37	chr17	7529794	7529795	+	Frame_Shift_Ins	INS	-	-	TCCT																															gccaactttctcgttgcctcINStccttgaaagcagaagaagt																										TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:7529794_7529795insTCCT	ENST00000269298.5	-	6	702_703	c.483_484insAGGA	c.(481-486)ggaggcfs	p.-162fs	SHBG_ENST00000576728.1_Intron|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000574539.1_Intron|SAT2_ENST00000573566.1_Frame_Shift_Ins_p.-128fs|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000570547.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2							cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	CTCGTTGCCTCTCCTTGAAAGC	0.545													16	288	---	---	---	---					TCCT	7529795	-	TCCT	7529794	7	5	37	1	0	1	1	0	0	0	0	0	13938	922	32	0	32	0	SAT2	17	7529794	Frame_Shift_Ins	INS	-	TCGA-BB-4223-01A-01D-1434-08	2066985	7529794	73665416	287	7250											
ATP1B2	482	broad.mit.edu	37	chr17	7557557	7557557	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcactgggcagccctgtgtCttcatcaagatgaaccgggt	9	9	12	11	1	3	2	2	1	1	1	3	2	3	2	2	2	3	2	2	2	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:7557557C>G	ENST00000250111.4	+	4	941	c.534C>G	c.(532-534)gtC>gtG	p.V178V		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	178					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		AGCCCTGTGTCTTCATCAAGA	0.567													134	249					0	0	0	0	G	7557557	C	G	7557557	2	3	37	1	0	0	0	0	0	0	0	1	1137	900	32	2		2	ATP1B2	17	7557557	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	27763	7557557	73637653	288	7251											
KRT24	192666	broad.mit.edu	37	chr17	38855880	38855880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagccacgtagccagcttCtgtgtcagccagggttccct	6	10	11	14	1	2	1	1	1	1	0	3	1	3	1	4	1	4	3	4	1	1	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:38855880C>T	ENST00000264651.2	-	6	1233	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	393	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TAGCCAGCTTCTGTGTCAGCC	0.438													14	242					0	0	0	0	T	38855880	C	T	38855880	3	4	37	1	0	0	0	0	1	0	0	0	8513	922	32	2	412	2	KRT24	17	38855880	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	31298323	38855880	42339330	289	7252											
KRT13	3860	broad.mit.edu	37	chr17	39659319	39659319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatctccacgttgacctggCcgaccacctggttgctaaat	8	10	8	15	2	1	1	0	1	1	0	2	2	1	1	6	2	1	3	6	2	2	3	rs150947773	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:39659319C>T	ENST00000246635.3	-	4	813	c.767G>A	c.(766-768)gGc>gAc	p.G256D	KRT13_ENST00000587544.1_Missense_Mutation_p.G256D|KRT13_ENST00000336861.3_Missense_Mutation_p.G256D	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	256	Linker 12.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GTTGACCTGGCCGACCACCTG	0.587													8	741					0	0	0	0	T	39659319	C	T	39659319	3	4	37	1	0	0	0	0	1	0	0	0	8502	739	26	4	629	4	KRT13	17	39659319	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	803439	39659319	41535891	290	7253											
CBX1	10951	broad.mit.edu	37	chr17	46152376	46152376	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggccgactcaccatttcatCaggaacatgagctctccact	10	10	7	14	1	4	1	3	1	1	0	5	3	4	2	3	2	2	1	3	2	1	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:46152376C>G	ENST00000393408.3	-	4	885	c.405G>C	c.(403-405)ctG>ctC	p.L135L	CBX1_ENST00000495350.1_Silent_p.L135L|CBX1_ENST00000225603.4_Silent_p.L135L	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	135	Chromo 2; shadow subtype.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						ACCATTTCATCAGGAACATGA	0.478													11	286					0	0	0	0	G	46152376	C	G	46152376	2	3	37	1	0	0	0	0	0	0	0	1	2742	813	29	2		2	CBX1	17	46152376	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	6493057	46152376	35042834	291	7254											
MTMR4	9110	broad.mit.edu	37	chr17	56573327	56573327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggtcccttagtctcttCtaggactttgatctcaggat	7	15	9	10	0	3	1	1	1	3	0	6	3	4	3	1	3	1	1	1	3	2	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:56573327C>T	ENST00000323456.5	-	16	2300	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K	MTMR4_ENST00000579925.1_Missense_Mutation_p.E669K	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	726						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTAGTCTCTTCTAGGACTTTG	0.493													31	610					0	0	0	0	T	56573327	C	T	56573327	3	4	37	1	0	0	0	0	1	0	0	0	10016	922	32	2	1427	2	MTMR4	17	56573327	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	10420951	56573327	24621883	292	7255											
PRR11	55771	broad.mit.edu	37	chr17	57270903	57270903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggtcaaacatgtcacatGagtggtaaacttacaaatgt	14	12	9	6	0	2	1	2	1	0	0	2	1	2	1	0	2	3	1	0	2	5	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:57270903G>A	ENST00000262293.4	+	5	765	c.453G>A	c.(451-453)atG>atA	p.M151I		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	151										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CATGTCACATGAGTGGTAAAC	0.458													7	138					0	0	0	0	A	57270903	G	A	57270903	3	1	37	1	0	0	0	0	1	0	0	0	12663	1290	45	2	467	2	PRR11	17	57270903	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	697576	57270903	23924307	293	7256											
AXIN2	8313	broad.mit.edu	37	chr17	63532463	63532463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgggggcttcgacacctCagctagcctgcgacaggcct	6	9	12	14	2	1	0	1	0	0	0	2	2	1	0	3	3	3	2	3	3	1	3	rs121908567		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:63532463C>T	ENST00000307078.5	-	8	2429	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	AXIN2_ENST00000375702.5_Missense_Mutation_p.E641K	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	706					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTCGACACCTCAGCTAGCCTG	0.642									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				3	24					0	0	0	0	T	63532463	C	T	63532463	3	4	37	1	0	0	0	0	1	0	0	0	1241	835	29	2	431	2	AXIN2	17	63532463	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	6261560	63532463	17662747	294	7257											
QRICH2	84074	broad.mit.edu	37	chr17	74287166	74287166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcctcatccagatccttCatactctcctttagccccac	7	13	3	18	0	3	1	2	0	1	1	7	1	6	1	6	0	3	1	6	0	2	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:74287166C>T	ENST00000262765.5	-	4	3323	c.3144G>A	c.(3142-3144)atG>atA	p.M1048I		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1048							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAGATCCTTCATACTCTCCT	0.532													8	195					0	0	0	0	T	74287166	C	T	74287166	3	4	37	1	0	0	0	0	1	0	0	0	12962	826	29	2	1911	2	QRICH2	17	74287166	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	10754703	74287166	6908044	295	7258											
JMJD6	23210	broad.mit.edu	37	chr17	74721741	74721741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttcatcttcatcttcactGagtagccatcgttatcctca	9	16	4	12	1	6	1	4	1	2	0	8	1	7	1	2	0	1	2	2	0	2	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:74721741G>A	ENST00000445478.2	-	2	529	c.326C>T	c.(325-327)tCa>tTa	p.S109L	JMJD6_ENST00000585429.1_Missense_Mutation_p.S109L|JMJD6_ENST00000397625.4_Missense_Mutation_p.S109L	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	109					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CATCTTCACTGAGTAGCCATC	0.463													11	262					0	0	0	0	A	74721741	G	A	74721741	3	1	37	1	0	0	0	0	1	0	0	0	8006	1294	45	2	946	2	JMJD6	17	74721741	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	434575	74721741	6473469	296	7259											
JMJD6	23210	broad.mit.edu	37	chr17	74721784	74721784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acacttgaacttctggttccGatatttcctttttaggcgct	7	17	7	10	2	1	1	0	1	1	0	3	2	3	1	2	2	1	2	2	2	3	8			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:74721784G>C	ENST00000445478.2	-	2	486	c.283C>G	c.(283-285)Cgg>Ggg	p.R95G	JMJD6_ENST00000585429.1_Missense_Mutation_p.R95G|JMJD6_ENST00000397625.4_Missense_Mutation_p.R95G	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	95					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TTCTGGTTCCGATATTTCCTT	0.473													10	241					0	0	0	0	C	74721784	G	C	74721784	3	2	37	1	0	0	0	0	1	0	0	0	8006	1057	37	3	989	3	JMJD6	17	74721784	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	43	74721784	6473426	297	7260											
DNAH17	8632	broad.mit.edu	37	chr17	76459075	76459075	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgtagttgtagcgcctctCagtagccaggtataccctgg	7	11	13	10	1	1	0	1	0	1	0	2	0	1	0	3	3	3	5	3	3	5	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:76459075C>G	ENST00000389840.5	-	57	9107	c.8983G>C	c.(8983-8985)Gag>Cag	p.E2995Q	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E3004Q					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGCGCCTCTCAGTAGCCAGG	0.498													9	97					0	0	0	0	G	76459075	C	G	76459075	3	3	37	1	0	0	0	0	1	0	0	0	4638	835	29	2	4463	2	DNAH17	17	76459075	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1737291	76459075	4736135	298	7261											
GAA	2548	broad.mit.edu	37	chr17	78092121	78092121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctggaagtgctggagcgaGgggcctacacacaggtcatc	9	6	15	11	1	1	0	1	0	0	0	2	3	1	2	2	5	3	1	2	5	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:78092121G>C	ENST00000302262.3	+	18	2830	c.2611G>C	c.(2611-2613)Ggg>Cgg	p.G871R	GAA_ENST00000390015.3_Missense_Mutation_p.G871R	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	871					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCTGGAGCGAGGGGCCTACAC	0.677													7	165					0	0	0	0	C	78092121	G	C	78092121	3	2	37	1	0	0	0	0	1	0	0	0	6195	1000	35	4	2677	4	GAA	17	78092121	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1633046	78092121	3103089	299	7262											
C17orf70	80233	broad.mit.edu	37	chr17	79517625	79517625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgtcaggcagaaaattctCtgcagcttctgcagcctgtg	8	11	10	12	1	3	1	1	0	2	1	5	1	3	1	1	1	4	4	1	1	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:79517625C>T	ENST00000537152.1	-	3	967	c.442G>A	c.(442-444)Gag>Aag	p.E148K	C17orf70_ENST00000327787.8_Missense_Mutation_p.E299K	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	299					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AGAAAATTCTCTGCAGCTTCT	0.582													4	180					0	0	0	0	T	79517625	C	T	79517625	3	4	37	1	0	0	0	0	1	0	0	0	1892	922	32	2	1778	2	C17orf70	17	79517625	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1425504	79517625	1677585	300	7263											
CETN1	1068	broad.mit.edu	37	chr18	580886	580886	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggacggcgaagtgaacgagGaggagttccttcggatcatg	10	7	17	7	4	1	1	1	1	0	0	3	7	2	5	1	5	1	1	1	5	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:580886G>T	ENST00000327228.3	+	1	520	c.478G>T	c.(478-480)Gag>Tag	p.E160*		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	160	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AGTGAACGAGGAGGAGTTCCT	0.537													27	117					1.04121e-07	1.08919e-07	1	0	T	580886	G	T	580886	4	4	37	1	0	0	0	0	0	1	0	0	3303	1175	41	2	480	2	CETN1	18	580886	Nonsense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08		580886	77496362	301	7264											
DLGAP1	9229	broad.mit.edu	37	chr18	3879505	3879505	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggccttgggctccgcGcgccgctccttgctcttgct	0	10	14	17	5	1	0	0	0	1	0	3	0	3	0	5	3	2	4	5	3	0	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:3879505G>A	ENST00000315677.3	-	4	1159	c.564C>T	c.(562-564)cgC>cgT	p.R188R	DLGAP1_ENST00000515196.2_Silent_p.R188R|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Silent_p.R188R|DLGAP1_ENST00000584874.1_Silent_p.R188R	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	188					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TGGGCTCCGCGCGCCGCTCCT	0.706													110	399					0	0	0	0	A	3879505	G	A	3879505	2	1	37	1	0	0	0	0	0	0	0	1	4596	1074	38	1		1	DLGAP1	18	3879505	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	3298619	3879505	74197743	302	7265											
AFG3L2	10939	broad.mit.edu	37	chr18	12344174	12344174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagataccagccggcaaccGcatggcctgcttcgtggtat	8	8	11	14	3	0	1	0	0	0	1	1	1	0	1	5	3	4	4	5	3	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:12344174G>A	ENST00000269143.3	-	14	1967	c.1736C>T	c.(1735-1737)gCg>gTg	p.A579V		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	579					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GCCGGCAACCGCATGGCCTGC	0.527													5	343					0	0	0	0	A	12344174	G	A	12344174	3	1	37	1	0	0	0	0	1	0	0	0	360	1087	38	1	673	1	AFG3L2	18	12344174	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	8464669	12344174	65733074	303	7266											
MIB1	57534	broad.mit.edu	37	chr18	19378062	19378062	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagactttaggtaaagttggCcgagtacaacagatttattc	14	12	9	6	1	0	2	0	0	0	2	1	3	0	2	1	2	2	3	1	2	7	8			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:19378062C>T	ENST00000261537.6	+	8	1374	c.1110C>T	c.(1108-1110)ggC>ggT	p.G370G	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	370					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GTAAAGTTGGCCGAGTACAAC	0.363													5	357					0	0	0	0	T	19378062	C	T	19378062	2	4	37	1	0	0	0	0	0	0	0	1	9635	726	26	4		4	MIB1	18	19378062	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	7033888	19378062	58699186	304	7267											
ATP8B1	5205	broad.mit.edu	37	chr18	55398973	55398973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtttcatcatcactgtaggGaaccacttcgtcattaggct	9	14	8	10	1	4	0	4	0	0	0	5	1	4	1	1	2	1	3	1	2	3	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:55398973G>A	ENST00000536015.1	-	2	186	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	ATP8B1_ENST00000283684.4_Missense_Mutation_p.P23S|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	23					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCACTGTAGGGAACCACTTCG	0.463													13	735					0	0	0	0	A	55398973	G	A	55398973	3	1	37	1	0	0	0	0	1	0	0	0	1198	1174	41	2	3796	2	ATP8B1	18	55398973	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	36020911	55398973	22678275	305	7268											
MALT1	10892	broad.mit.edu	37	chr18	56411652	56411652	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgagttttccaatgtcatGatcatctatacaagtatagt	12	15	7	7	0	3	2	2	2	1	0	4	2	4	2	1	0	1	3	1	0	6	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:56411652G>C	ENST00000348428.3	+	15	2094	c.1836G>C	c.(1834-1836)atG>atC	p.M612I	MALT1_ENST00000345724.3_Missense_Mutation_p.M601I|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	612					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CCAATGTCATGATCATCTATA	0.338			T	BIRC3	MALT								6	355					0	0	0	0	C	56411652	G	C	56411652	3	2	37	1	0	0	0	0	1	0	0	0	9271	1290	45	2	1894	2	MALT1	18	56411652	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1012679	56411652	21665596	306	7269											
CNDP2	55748	broad.mit.edu	37	chr18	72180810	72180810	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggctctttggtggacaaGagggggaacatcctgatccc	9	9	13	10	0	2	2	1	1	1	1	4	4	4	4	2	5	1	1	2	5	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:72180810G>A	ENST00000324262.4	+	8	1075	c.759G>A	c.(757-759)aaG>aaA	p.K253K	CNDP2_ENST00000579847.1_Silent_p.K253K|CNDP2_ENST00000324301.8_Silent_p.K169K	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	253						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TGGTGGACAAGAGGGGGAACA	0.607													22	93					0	0	0	0	A	72180810	G	A	72180810	2	1	37	1	0	0	0	0	0	0	0	1	3624	933	33	2		2	CNDP2	18	72180810	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	15769158	72180810	5896438	307	7270											
SALL3	27164	broad.mit.edu	37	chr18	76753093	76753093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttctacctcagacttccGccagcggcgtcatcttcccc	5	10	7	19	4	4	1	2	0	2	1	6	1	6	1	5	1	2	1	5	1	1	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:76753093G>A	ENST00000536229.3	+	1	1412	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	SALL3_ENST00000575389.2_Missense_Mutation_p.A368T|SALL3_ENST00000537592.2_Missense_Mutation_p.A368T			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	368				R -> C (in Ref. 2; CAB65124).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCAGACTTCCGCCAGCGGCGT	0.716													4	53					0	0	0	0	A	76753093	G	A	76753093	3	1	37	1	0	0	0	0	1	0	0	0	13897	1087	38	1	1108	1	SALL3	18	76753093	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	4572283	76753093	1324155	308	7271											
JSRP1	126306	broad.mit.edu	37	chr19	2254199	2254199	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacccactcgctccggctttCagcctctccttccccgttcc	4	11	5	21	3	2	0	1	0	1	0	7	0	5	0	7	1	2	3	7	1	1	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:2254199C>T	ENST00000300961.5	-	4	313	c.249G>A	c.(247-249)ctG>ctA	p.L83L	JSRP1_ENST00000586471.1_Silent_p.L83L	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	83						sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		CTCCGGCTTTCAGCCTCTCCT	0.632											OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	531					0	0	0	0	T	2254199	C	T	2254199	2	4	37	1	0	0	0	0	0	0	0	1	8019	813	29	2		2	JSRP1	19	2254199	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08		2254199	56874784	309	7272											
SLC39A3	29985	broad.mit.edu	37	chr19	2732943	2732943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggcacgccctgggcgctctCaatgcccaggcccaggccga	6	4	13	18	4	1	0	1	0	1	0	2	1	1	0	4	4	1	2	4	4	1	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:2732943C>G	ENST00000269740.4	-	3	1080	c.751G>C	c.(751-753)Gag>Cag	p.E251Q	AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Missense_Mutation_p.E251Q	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	251						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		TGGGCGCTCTCAATGCCCAGG	0.706													5	102					0	0	0	0	G	2732943	C	G	2732943	3	3	37	1	0	0	0	0	1	0	0	0	14707	835	29	2	197	2	SLC39A3	19	2732943	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	478744	2732943	56396040	310	7273											
LONP1	9361	broad.mit.edu	37	chr19	5711832	5711832	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtggacaacgttctctacctCcaccatgagcacctcagccg	9	8	8	16	2	2	1	1	1	1	0	4	2	3	2	5	1	4	2	5	1	2	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:5711832C>G	ENST00000360614.3	-	4	977	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	LONP1_ENST00000585374.1_Missense_Mutation_p.E160Q|LONP1_ENST00000590729.1_Missense_Mutation_p.E160Q|LONP1_ENST00000540670.2_Missense_Mutation_p.E78Q|LONP1_ENST00000593119.1_Missense_Mutation_p.E210Q	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	274	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTCTCTACCTCCACCATGAGC	0.682													8	271					0	0	0	0	G	5711832	C	G	5711832	3	3	37	1	0	0	0	0	1	0	0	0	8956	864	30	2	2119	2	LONP1	19	5711832	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	2978889	5711832	53417151	311	7274											
TRIP10	9322	broad.mit.edu	37	chr19	6743836	6743836	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatttttcacagatgcccCagatattcgatgtgagtgct	9	15	8	9	1	2	3	1	1	1	2	3	4	2	3	2	0	2	1	2	0	2	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:6743836C>T	ENST00000600428.1	+	7	953	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	TRIP10_ENST00000313285.8_Nonsense_Mutation_p.Q211*|TRIP10_ENST00000596758.1_Nonsense_Mutation_p.Q211*|TRIP10_ENST00000313244.9_Nonsense_Mutation_p.Q211*			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	211	Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						ACAGATGCCCCAGATATTCGA	0.498													8	224					0	0	0	0	T	6743836	C	T	6743836	4	4	37	1	0	0	0	0	0	1	0	0	16649	595	21	4	657	4	TRIP10	19	6743836	Nonsense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1032004	6743836	52385147	312	7275											
FBN3	84467	broad.mit.edu	37	chr19	8138080	8138080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcccccgagggcctgatCaaagtcaaagccagaggggc	11	3	14	13	1	2	2	2	1	0	1	2	3	2	2	4	3	2	1	4	3	2	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:8138080C>G	ENST00000600128.1	-	62	8218	c.7804G>C	c.(7804-7806)Gat>Cat	p.D2602H	FBN3_ENST00000601739.1_Missense_Mutation_p.D2602H|FBN3_ENST00000270509.2_Missense_Mutation_p.D2602H			Q75N90	FBN3_HUMAN	fibrillin 3	2602	EGF-like 43; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGCCTGATCAAAGTCAAAG	0.662													58	154					0	0	0	0	G	8138080	C	G	8138080	3	3	37	1	0	0	0	0	1	0	0	0	5749	826	29	2	637	2	FBN3	19	8138080	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1394244	8138080	50990903	313	7276											
EIF3G	8666	broad.mit.edu	37	chr19	10227615	10227615	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcggcaggacacgatcttCtggcccttgagtttgttcat	7	13	11	10	2	3	1	1	1	2	0	3	3	3	2	1	3	1	3	1	3	0	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:10227615C>T	ENST00000253108.4	-	7	498	c.456G>A	c.(454-456)caG>caA	p.Q152Q		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	152						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			ACACGATCTTCTGGCCCTTGA	0.647													11	294					0	0	0	0	T	10227615	C	T	10227615	2	4	37	1	0	0	0	0	0	0	0	1	5055	912	32	2		2	EIF3G	19	10227615	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	2089535	10227615	48901368	314	7277											
DNMT1	1786	broad.mit.edu	37	chr19	10265371	10265371	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcataactctccacctgctCcaccacaaactgcgcgtgtc	9	9	6	17	2	2	0	1	0	1	0	5	0	3	0	4	0	4	1	4	0	2	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:10265371C>G	ENST00000340748.4	-	20	1910	c.1675G>C	c.(1675-1677)Gag>Cag	p.E559Q	DNMT1_ENST00000359526.4_Missense_Mutation_p.E575Q|DNMT1_ENST00000540357.1_Missense_Mutation_p.E559Q			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	559	Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCCACCTGCTCCACCACAAAC	0.582													4	128					0	0	0	0	G	10265371	C	G	10265371	3	3	37	1	0	0	0	0	1	0	0	0	4711	864	30	2	3259	2	DNMT1	19	10265371	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	37756	10265371	48863612	315	7278											
ZNF563	147837	broad.mit.edu	37	chr19	12430300	12430300	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttcgaaggtttctacgaGaactgaaggtttttccacat	10	14	9	8	2	2	2	0	1	2	1	4	4	3	2	1	2	2	2	1	2	4	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:12430300G>C	ENST00000293725.5	-	4	744	c.539C>G	c.(538-540)tCt>tGt	p.S180C	ZNF563_ENST00000595977.1_Missense_Mutation_p.S180C	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTTTCTACGAGAACTGAAGGT	0.433													8	359					0	0	0	0	C	12430300	G	C	12430300	3	2	37	1	0	0	0	0	1	0	0	0	18089	942	33	2	895	2	ZNF563	19	12430300	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	2164929	12430300	46698683	316	7279											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941729	13941729	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tatggggatttcatcgaattCctgggcaaggcccgggagac	9	9	14	9	2	1	1	1	0	0	1	3	4	2	2	2	5	0	1	2	5	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:13941729C>G	ENST00000254323.2	+	13	3024	c.2835C>G	c.(2833-2835)ttC>ttG	p.F945L	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.F779L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	945							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TCATCGAATTCCTGGGCAAGG	0.612													7	209					0	0	0	0	G	13941729	C	G	13941729	3	3	37	1	0	0	0	0	1	0	0	0	18334	854	30	2	2885	2	ZSWIM4	19	13941729	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1511429	13941729	45187254	317	7280											
GIPC1	10755	broad.mit.edu	37	chr19	14591259	14591259	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatgtcgcccacgctgatGaggtggatgtggtcgatcac	8	10	13	10	3	2	2	2	2	0	0	4	4	2	3	1	3	0	1	1	3	0	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:14591259G>A	ENST00000393033.4	-	6	782	c.513C>T	c.(511-513)ctC>ctT	p.L171L	GIPC1_ENST00000393029.3_Silent_p.L74L|GIPC1_ENST00000393028.1_Silent_p.L74L|GIPC1_ENST00000591349.1_Silent_p.L74L|GIPC1_ENST00000586027.1_Silent_p.L171L|GIPC1_ENST00000345425.2_Silent_p.L171L	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	171	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CCACGCTGATGAGGTGGATGT	0.682											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	326					0	0	0	0	A	14591259	G	A	14591259	2	1	37	1	0	0	0	0	0	0	0	1	6443	1277	45	2		2	GIPC1	19	14591259	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	649530	14591259	44537724	318	7281											
TECR	9524	broad.mit.edu	37	chr19	14675667	14675667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaccctctctacactcccCctagtaagtggcctcagacc	9	9	5	18	0	3	1	2	0	1	1	5	1	4	1	5	1	1	1	5	1	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:14675667C>T	ENST00000600083.1	+	8	727	c.94C>T	c.(94-96)Cct>Tct	p.P32S	TECR_ENST00000215567.5_Missense_Mutation_p.P187S|TECR_ENST00000596073.1_Missense_Mutation_p.P32S|TECR_ENST00000436007.2_Missense_Mutation_p.P202S			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	187					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						CTACACTCCCCCTAGTAAGTG	0.617													9	189					0	0	0	0	T	14675667	C	T	14675667	3	4	37	1	0	0	0	0	1	0	0	0	15839	623	22	4	589	4	TECR	19	14675667	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	84408	14675667	44453316	319	7282											
ILVBL	10994	broad.mit.edu	37	chr19	15233935	15233935	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggactgggtacctgcagcaGagtgctggcagccccaccca	9	5	13	14	0	0	1	0	0	0	1	0	2	0	2	4	3	5	5	4	3	1	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:15233935G>C	ENST00000263383.3	-	4	596	c.457C>G	c.(457-459)Ctg>Gtg	p.L153V	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.L46V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	153						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						ACCTGCAGCAGAGTGCTGGCA	0.627													9	224					0	0	0	0	C	15233935	G	C	15233935	3	2	37	1	0	0	0	0	1	0	0	0	7768	933	33	2	1493	2	ILVBL	19	15233935	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	558268	15233935	43895048	320	7283											
BRD4	23476	broad.mit.edu	37	chr19	15375245	15375245	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatgtccatggggtgcttGatgatgtcacagtagtcgtg	7	13	13	8	1	2	2	2	2	0	0	4	2	3	2	1	2	1	2	1	2	1	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:15375245G>C	ENST00000263377.2	-	6	1403	c.1182C>G	c.(1180-1182)atC>atG	p.I394M	BRD4_ENST00000360016.5_Missense_Mutation_p.I394M|BRD4_ENST00000371835.4_Missense_Mutation_p.I394M	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	394	Bromo 2.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGGGGTGCTTGATGATGTCAC	0.567			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	351					0	0	0	0	C	15375245	G	C	15375245	3	2	37	1	0	0	0	0	1	0	0	0	1512	1280	45	2	2981	2	BRD4	19	15375245	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	141310	15375245	43753738	321	7284											
CHERP	10523	broad.mit.edu	37	chr19	16634068	16634068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgccaggatgaggcatgCggtggccagggtggtggtga	7	8	20	6	1	0	3	0	3	0	0	0	4	0	4	2	7	2	1	2	7	0	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:16634068C>T	ENST00000546361.2	-	11	1926	c.1775G>A	c.(1774-1776)cGc>cAc	p.R592H	CHERP_ENST00000198939.6_Missense_Mutation_p.R603H|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	592	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ATGAGGCATGCGGTGGCCAGG	0.652													5	267					0	0	0	0	T	16634068	C	T	16634068	3	4	37	1	0	0	0	0	1	0	0	0	3365	768	27	1	1003	1	CHERP	19	16634068	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1258823	16634068	42494915	322	7285											
PDE4C	5143	broad.mit.edu	37	chr19	18321950	18321950	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcggggttggtgaggtctGagggacttcgggggatcttg	4	11	20	6	2	2	2	0	2	2	0	4	4	2	4	0	7	0	2	0	7	0	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:18321950G>C	ENST00000355502.3	-	19	2799	c.1928C>G	c.(1927-1929)tCa>tGa	p.S643*	PDE4C_ENST00000539010.1_Nonsense_Mutation_p.S412*|PDE4C_ENST00000262805.11_Nonsense_Mutation_p.S611*|PDE4C_ENST00000594465.2_Nonsense_Mutation_p.S643*|PDE4C_ENST00000447275.2_Nonsense_Mutation_p.S537*|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594617.2_Nonsense_Mutation_p.S643*			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	643					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.S643*(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGTGAGGTCTGAGGGACTTCG	0.597													5	289					0	0	0	0	C	18321950	G	C	18321950	4	2	37	1	0	0	0	0	0	1	0	0	11712	1294	45	2	214	2	PDE4C	19	18321950	Nonsense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1687882	18321950	40807033	323	7286											
KIAA1683	80726	broad.mit.edu	37	chr19	18368203	18368203	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgctttgtcctggcgatgCggctgcctgggactcagggc	3	9	16	13	3	1	0	1	0	0	0	2	2	2	1	3	4	2	2	3	4	0	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:18368203C>T	ENST00000392413.3	-	4	4106	c.3891G>A	c.(3889-3891)ccG>ccA	p.P1297P	KIAA1683_ENST00000600328.2_Silent_p.P1110P|KIAA1683_ENST00000600359.2_Silent_p.P1064P	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCTGGCGATGCGGCTGCCTGG	0.662													4	103					0	0	0	0	T	18368203	C	T	18368203	2	4	37	1	0	0	0	0	0	0	0	1	8302	755	27	1		1	KIAA1683	19	18368203	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	46253	18368203	40760780	324	7287											
CILP2	148113	broad.mit.edu	37	chr19	19656685	19656685	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggagccaccggccggaCgacccagcctcttccagagg	7	3	14	17	4	1	1	0	0	1	1	2	4	2	3	7	4	2	0	7	4	0	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:19656685C>T	ENST00000586018.1	+	8	3451	c.3349C>T	c.(3349-3351)Cga>Tga	p.R1117*	CILP2_ENST00000291495.4_Nonsense_Mutation_p.R1111*			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1111						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACCGGCCGGACGACCCAGCCT	0.672													5	16					0	0	0	0	T	19656685	C	T	19656685	4	4	37	1	0	0	0	0	0	1	0	0	3459	528	19	1	3361	1	CILP2	19	19656685	Nonsense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1288482	19656685	39472298	325	7288											
ZNF91	7644	broad.mit.edu	37	chr19	23544861	23544861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttatgtttagcaagggttGaagaatggctaaaagctttg	12	14	11	4	0	1	2	0	1	1	1	1	2	1	2	0	2	2	5	0	2	7	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:23544861G>A	ENST00000300619.7	-	4	1125	c.920C>T	c.(919-921)tCa>tTa	p.S307L	ZNF91_ENST00000397082.2_Missense_Mutation_p.S275L|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	307						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGCAAGGGTTGAAGAATGGCT	0.403													10	296					0	0	0	0	A	23544861	G	A	23544861	3	1	37	1	0	0	0	0	1	0	0	0	18293	1294	45	2	2659	2	ZNF91	19	23544861	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	3888176	23544861	35584122	326	7289											
MAG	4099	broad.mit.edu	37	chr19	35786781	35786781	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaaactgcaccctcctgctCagcaacgtcagccccgagct	9	6	8	18	3	2	0	2	0	0	0	3	2	3	0	4	0	7	4	4	0	2	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:35786781C>G	ENST00000361922.4	+	4	462	c.312C>G	c.(310-312)ctC>ctG	p.L104L	MAG_ENST00000597035.1_Intron|MAG_ENST00000537831.2_Silent_p.L79L|MAG_ENST00000392213.3_Silent_p.L104L	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	104	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTCCTGCTCAGCAACGTCA	0.642													10	562					0	0	0	0	G	35786781	C	G	35786781	2	3	37	1	0	0	0	0	0	0	0	1	9227	813	29	2		2	MAG	19	35786781	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	12241920	35786781	23342202	327	7290											
CAPNS1	826	broad.mit.edu	37	chr19	36637120	36637120	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacctgaatgagcatctCtataacatgatcatccgacg	12	11	6	12	2	2	3	1	3	1	0	5	4	4	3	3	0	2	1	3	0	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:36637120C>A	ENST00000246533.3	+	9	1225	c.627C>A	c.(625-627)ctC>ctA	p.L209L	CAPNS1_ENST00000590874.1_Silent_p.L179L|CAPNS1_ENST00000589146.1_Silent_p.L35L|CAPNS1_ENST00000588815.1_Silent_p.L209L|CAPNS1_ENST00000587718.1_Silent_p.L209L|CAPNS1_ENST00000588780.1_Silent_p.L219L|AD001527.7_ENST00000604228.1_RNA	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	209	EF-hand 4.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATGAGCATCTCTATAACATGA	0.537													9	619					0.000442599	0.000454616	1	0	A	36637120	C	A	36637120	2	1	37	1	0	0	0	0	0	0	0	1	2658	900	32	2		2	CAPNS1	19	36637120	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	850339	36637120	22491863	328	7291											
PLEKHG2	64857	broad.mit.edu	37	chr19	39914871	39914871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttctgatttcacagtttCagtcaccacccctgtgccca	7	14	6	14	0	4	1	3	1	1	0	4	1	4	1	4	0	1	2	4	0	0	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:39914871C>T	ENST00000425673.1	+	17	3336	c.3011C>T	c.(3010-3012)tCa>tTa	p.S1004L	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S974L|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.S1033L|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1033					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCACAGTTTCAGTCACCACC	0.547													10	292					0	0	0	0	T	39914871	C	T	39914871	3	4	37	1	0	0	0	0	1	0	0	0	12141	838	29	2	3168	2	PLEKHG2	19	39914871	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	3277751	39914871	19214112	329	7292											
SNRPD2	6633	broad.mit.edu	37	chr19	46190931	46190931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttcttgcccttgccactCttgggtacctcagtccacat	5	15	6	15	0	4	0	1	0	3	0	5	0	5	0	4	1	3	1	4	1	1	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:46190931C>G	ENST00000342669.3	-	3	681	c.237G>C	c.(235-237)aaG>aaC	p.K79N	SNRPD2_ENST00000587367.1_Missense_Mutation_p.K69N|SNRPD2_ENST00000585392.1_Missense_Mutation_p.K15N|SNRPD2_ENST00000391932.3_Missense_Mutation_p.K69N|SNRPD2_ENST00000588599.1_Missense_Mutation_p.K69N|SNRPD2_ENST00000588301.1_Missense_Mutation_p.K79N|SNRPD2_ENST00000590212.1_3'UTR	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	79					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CCTTGCCACTCTTGGGTACCT	0.597													5	208					0	0	0	0	G	46190931	C	G	46190931	3	3	37	1	0	0	0	0	1	0	0	0	14953	912	32	2	123	2	SNRPD2	19	46190931	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	6276060	46190931	12938052	330	7293											
IRF2BP1	26145	broad.mit.edu	37	chr19	46387755	46387755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggcttcggccacattcttCagggcggcaatgggcgaggg	7	7	17	10	3	2	0	1	0	1	0	3	1	2	0	1	6	0	2	1	6	1	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:46387755C>T	ENST00000302165.3	-	1	1621	c.1278G>A	c.(1276-1278)ctG>ctA	p.L426L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CCACATTCTTCAGGGCGGCAA	0.716													4	114					0	0	0	0	T	46387755	C	T	46387755	2	4	37	1	0	0	0	0	0	0	0	1	7882	813	29	2		2	IRF2BP1	19	46387755	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	196824	46387755	12741228	331	7294											
IGFL3	388555	broad.mit.edu	37	chr19	46627533	46627533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcctgtccttacctgtagttCcttttgaacactggaggagg	7	14	10	10	0	0	1	0	1	0	0	3	3	3	3	4	3	2	2	4	3	3	5	rs148630126		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:46627533C>T	ENST00000341415.2	-	2	95	c.71G>A	c.(70-72)gGa>gAa	p.G24E	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	24						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ACCTGTAGTTCCTTTTGAACA	0.453													8	125					0	0	0	0	T	46627533	C	T	46627533	3	4	37	1	0	0	0	0	1	0	0	0	7641	855	30	2	318	2	IGFL3	19	46627533	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	239778	46627533	12501450	332	7295											
ZC3H4	23211	broad.mit.edu	37	chr19	47585472	47585472	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagttctcagctctggcGcaaaatccagtgatgtaaaa	12	9	11	9	1	2	1	1	1	2	0	4	1	3	1	1	2	1	5	1	2	4	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:47585472G>A	ENST00000253048.5	-	10	1336	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	433							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CAGCTCTGGCGCAAAATCCAG	0.463													5	292					0	0	0	0	A	47585472	G	A	47585472	2	1	37	1	0	0	0	0	0	0	0	1	17665	1079	38	1		1	ZC3H4	19	47585472	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	957939	47585472	11543511	333	7296											
SLC8A2	6543	broad.mit.edu	37	chr19	47951487	47951487	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttgaacaccagcgtgccctCgctgcggcggggtggggagg	5	7	18	11	4	0	1	0	1	0	0	1	2	0	2	2	6	4	1	2	6	1	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:47951487C>G	ENST00000236877.6	-	4	1737	c.1340_splice	c.e4-1	p.E448_splice	SLC8A2_ENST00000542837.1_Splice_Site_p.E204_splice|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	448	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGCGTGCCCTCGCTGCGGCGG	0.637													5	104					0	0	0	0	G	47951487	C	G	47951487	5	3	37	1	0	0	0	0	0	0	1	0	14795	898	31	3	1451	3	SLC8A2	19	47951487	Splice_Site	SNP	C	TCGA-BB-4223-01A-01D-1434-08	366015	47951487	11177496	334	7297											
CRX	1406	broad.mit.edu	37	chr19	48342644	48342644	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagaaacagcagcagcagcCcccagggggccaggccaagg	12	0	15	14	0	0	1	0	0	0	1	0	1	0	1	4	4	5	4	4	4	2	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:48342644C>G	ENST00000221996.7	+	4	526	c.320C>G	c.(319-321)cCc>cGc	p.P107R	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.P107R	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	107					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		cagcagcagcCCCCAGGGGGC	0.627													11	268					0	0	0	0	G	48342644	C	G	48342644	3	3	37	1	0	0	0	0	1	0	0	0	3932	623	22	4	330	4	CRX	19	48342644	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	391157	48342644	10786339	335	7298											
LMTK3	114783	broad.mit.edu	37	chr19	49001313	49001313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatctcaggcccccattctCtgacaccttgtcctcgctct	6	12	6	17	1	3	1	1	1	3	0	7	2	4	1	4	1	0	1	4	1	1	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49001313C>T	ENST00000600059.1	-	11	3240	c.3013G>A	c.(3013-3015)Gag>Aag	p.E1005K	LMTK3_ENST00000270238.3_Missense_Mutation_p.E1034K					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCCCCATTCTCTGACACCTTG	0.647													10	365					0	0	0	0	T	49001313	C	T	49001313	3	4	37	1	0	0	0	0	1	0	0	0	8915	922	32	2	1389	2	LMTK3	19	49001313	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	658669	49001313	10127670	336	7299											
LMTK3	114783	broad.mit.edu	37	chr19	49001325	49001325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccattctctgacaccttgtCctcgctctttgggggtgtca	4	14	9	14	1	3	1	1	1	2	0	6	1	4	1	3	2	0	1	3	2	0	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49001325C>T	ENST00000600059.1	-	11	3228	c.3001G>A	c.(3001-3003)Gac>Aac	p.D1001N	LMTK3_ENST00000270238.3_Missense_Mutation_p.D1030N					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GACACCTTGTCCTCGCTCTTT	0.642													9	428					0	0	0	0	T	49001325	C	T	49001325	3	4	37	1	0	0	0	0	1	0	0	0	8915	855	30	2	1401	2	LMTK3	19	49001325	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	12	49001325	10127658	337	7300											
PPFIA3	8541	broad.mit.edu	37	chr19	49636556	49636556	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaagcagaagctgcagcaGacgctgcagaaagcggagac	14	2	14	11	2	0	4	0	0	0	4	0	5	0	4	1	1	6	6	1	1	3	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49636556G>C	ENST00000334186.4	+	9	1438	c.1089G>C	c.(1087-1089)caG>caC	p.Q363H	PPFIA3_ENST00000602351.1_Missense_Mutation_p.Q363H	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	363						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGCTGCAGCAGACGCTGCAGA	0.682													6	118					0	0	0	0	C	49636556	G	C	49636556	3	2	37	1	0	0	0	0	1	0	0	0	12382	933	33	2	1119	2	PPFIA3	19	49636556	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	635231	49636556	9492427	338	7301											
HRC	3270	broad.mit.edu	37	chr19	49658238	49658238	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcctccttttcacggtctGggtggctccagaaatgatgc	7	12	10	12	1	2	2	1	1	1	1	5	2	5	2	3	3	1	1	3	3	1	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49658238G>C	ENST00000252825.4	-	1	443	c.257C>G	c.(256-258)cCa>cGa	p.P86R	HRC_ENST00000595625.1_Missense_Mutation_p.P86R	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	86					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TTCACGGTCTGGGTGGCTCCA	0.537													13	344					0	0	0	0	C	49658238	G	C	49658238	3	2	37	1	0	0	0	0	1	0	0	0	7402	1348	47	4	1866	4	HRC	19	49658238	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	21682	49658238	9470745	339	7302											
KLK9	284366	broad.mit.edu	37	chr19	51506440	51506440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactgcggggcgccggggtCtggagcagggctcagcaccc	6	4	18	13	3	2	1	1	0	1	1	2	2	2	2	2	6	3	3	2	6	0	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:51506440C>T	ENST00000250366.6	-	5	713	c.680G>A	c.(679-681)aGa>aAa	p.R227K	CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_Missense_Mutation_p.R227K|KLK9_ENST00000594211.1_Missense_Mutation_p.R227K	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	227	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GCGCCGGGGTCTGGAGCAGGG	0.642													96	219					0	0	0	0	T	51506440	C	T	51506440	3	4	37	1	0	0	0	0	1	0	0	0	8463	913	32	2	76	2	KLK9	19	51506440	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	1848202	51506440	7622543	340	7303											
SIGLEC8	27181	broad.mit.edu	37	chr19	51955701	51955701	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtctctgcagtttctcGcttgtggatcttgatctccg	4	16	10	11	2	4	2	0	2	4	0	7	3	4	3	1	1	1	3	1	1	0	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:51955701G>A	ENST00000321424.3	-	7	1498	c.1432C>T	c.(1432-1434)Cga>Tga	p.R478*	SIGLEC8_ENST00000430817.1_Nonsense_Mutation_p.R369*|SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.R385*	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	478					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCAGTTTCTCGCTTGTGGATC	0.517													73	255					0	0	0	0	A	51955701	G	A	51955701	4	1	37	1	0	0	0	0	0	1	0	0	14402	1095	38	1	71	1	SIGLEC8	19	51955701	Nonsense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	449261	51955701	7173282	341	7304											
SIGLEC6	946	broad.mit.edu	37	chr19	52033951	52033951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcacaggagacattgagctgGatggttctctccatggtcac	9	11	11	10	0	3	2	2	1	1	1	5	4	4	3	1	4	1	2	1	4	0	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:52033951G>C	ENST00000346477.3	-	3	758	c.690C>G	c.(688-690)atC>atG	p.I230M	SIGLEC6_ENST00000391797.3_Missense_Mutation_p.I219M|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.I194M|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.I230M|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.I230M|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.I230M	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	230	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CATTGAGCTGGATGGTTCTCT	0.637													9	272					0	0	0	0	C	52033951	G	C	52033951	3	2	37	1	0	0	0	0	1	0	0	0	14400	1164	41	2	728	2	SIGLEC6	19	52033951	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	78250	52033951	7095032	342	7305											
ZNF480	147657	broad.mit.edu	37	chr19	52825764	52825764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcacgacatcgaagaattCatactggagagaagccttac	14	9	9	9	2	1	2	1	0	0	2	2	6	1	3	1	1	4	1	1	1	5	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:52825764C>G	ENST00000595962.1	+	5	1327	c.1261C>G	c.(1261-1263)Cat>Gat	p.H421D	ZNF480_ENST00000335090.6_Missense_Mutation_p.H344D|ZNF480_ENST00000334564.7_Missense_Mutation_p.H378D|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TCGAAGAATTCATACTGGAGA	0.373													9	236					0	0	0	0	G	52825764	C	G	52825764	3	3	37	1	0	0	0	0	1	0	0	0	18030	826	29	2	1275	2	ZNF480	19	52825764	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	791813	52825764	6303219	343	7306											
UBOX5	22888	broad.mit.edu	37	chr20	3102039	3102039	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaattacctgtcgagcAgtccatatgtgtcaggctgg	8	12	12	9	1	1	1	1	1	0	0	3	2	2	1	2	2	3	3	2	2	3	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:3102039A>G	ENST00000217173.2	-	3	1717	c.1246T>C	c.(1246-1248)Tgc>Cgc	p.C416R	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.C416R	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	416						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CCTGTCGAGCAGTCCATATGT	0.532													49	78					0	0	0	0	G	3102039	A	G	3102039	3	3	37	1	0	0	0	0	1	0	0	0	16990	188	7	5	391	5	UBOX5	20	3102039	Missense_Mutation	SNP	A	TCGA-BB-4223-01A-01D-1434-08		3102039	59923481	344	7307											
CRNKL1	51340	broad.mit.edu	37	chr20	20023027	20023027	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagataaatgtagcgcttcCagtgcctcttctcctgaatg	11	12	8	10	1	2	2	0	1	2	1	4	2	3	2	3	0	2	2	3	0	5	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:20023027C>T	ENST00000377340.2	-	9	1620	c.1589G>A	c.(1588-1590)tGg>tAg	p.W530*	CRNKL1_ENST00000377327.4_Nonsense_Mutation_p.W518*|CRNKL1_ENST00000536226.1_Nonsense_Mutation_p.W369*	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	530					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GTAGCGCTTCCAGTGCCTCTT	0.448													6	225					0	0	0	0	T	20023027	C	T	20023027	4	4	37	1	0	0	0	0	0	1	0	0	3921	595	21	4	985	4	CRNKL1	20	20023027	Nonsense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	16920988	20023027	43002493	345	7308											
CRNKL1	51340	broad.mit.edu	37	chr20	20026038	20026038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaattccacagctctctCatacactttccgtgcatggg	11	11	7	12	1	2	1	1	0	1	1	5	1	4	1	2	1	3	2	2	1	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:20026038C>T	ENST00000377340.2	-	7	1229	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	CRNKL1_ENST00000377327.4_Missense_Mutation_p.E388K|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E239K	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	400					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ACAGCTCTCTCATACACTTTC	0.418													8	289					0	0	0	0	T	20026038	C	T	20026038	3	4	37	1	0	0	0	0	1	0	0	0	3921	835	29	2	1384	2	CRNKL1	20	20026038	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	3011	20026038	42999482	346	7309											
MYL9	10398	broad.mit.edu	37	chr20	35173423	35173423	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatgattgaccagaaccgtGatggcttcattgacaaggag	13	9	11	8	1	1	5	1	4	0	1	1	6	1	6	2	2	1	1	2	2	2	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:35173423G>C	ENST00000279022.2	+	2	240	c.136G>C	c.(136-138)Gat>Cat	p.D46H	RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Missense_Mutation_p.D46H	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	46	EF-hand 1.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAGAACCGTGATGGCTTCAT	0.572													5	158					0	0	0	0	C	35173423	G	C	35173423	3	2	37	1	0	0	0	0	1	0	0	0	10124	1290	45	2	138	2	MYL9	20	35173423	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	15147385	35173423	27852097	347	7310											
ZMYND8	23613	broad.mit.edu	37	chr20	45905248	45905248	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagcacaggcttgctcatCaggatcttgggggatgccgt	7	10	13	11	1	4	0	3	0	1	0	4	2	4	2	1	4	3	3	1	4	0	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:45905248C>T	ENST00000311275.7	-	11	1483	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	ZMYND8_ENST00000360911.3_Silent_p.L405L|ZMYND8_ENST00000540497.1_Silent_p.L405L|ZMYND8_ENST00000446994.2_Silent_p.L347L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Silent_p.L430L|ZMYND8_ENST00000536340.1_Silent_p.L437L|ZMYND8_ENST00000396281.4_Silent_p.L410L|ZMYND8_ENST00000471951.2_Silent_p.L430L|ZMYND8_ENST00000458360.2_Silent_p.L405L|ZMYND8_ENST00000372023.3_Silent_p.L405L|ZMYND8_ENST00000461685.1_Silent_p.L430L|ZMYND8_ENST00000262975.4_Silent_p.L410L|ZMYND8_ENST00000355972.4_Silent_p.L410L			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	410							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTTGCTCATCAGGATCTTGG	0.592													12	185					0	0	0	0	T	45905248	C	T	45905248	2	4	37	1	0	0	0	0	0	0	0	1	17806	813	29	2		2	ZMYND8	20	45905248	Silent	SNP	C	TCGA-BB-4223-01A-01D-1434-08	10731825	45905248	17120272	348	7311											
CTCFL	140690	broad.mit.edu	37	chr20	56099082	56099082	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctccacttcttcctccagGacgctgtcctggaaggcccc	6	9	9	17	1	1	0	0	0	1	0	5	2	5	2	6	3	1	2	6	3	1	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:56099082G>A	ENST00000426658.2	-	1	841	c.180C>T	c.(178-180)gtC>gtT	p.V60V	CTCFL_ENST00000432255.2_Silent_p.V60V|CTCFL_ENST00000243914.3_Silent_p.V60V|CTCFL_ENST00000429804.2_Silent_p.V60V|CTCFL_ENST00000433949.2_Silent_p.V60V|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000423479.2_Silent_p.V60V|CTCFL_ENST00000422869.2_Silent_p.V60V|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000371196.2_Silent_p.V60V|CTCFL_ENST00000422109.2_Silent_p.V60V			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	60					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTTCCTCCAGGACGCTGTCCT	0.587													134	284					0	0	0	0	A	56099082	G	A	56099082	2	1	37	1	0	0	0	0	0	0	0	1	4033	1161	41	2		2	CTCFL	20	56099082	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	10193834	56099082	6926438	349	7312											
IFNAR2	3455	broad.mit.edu	37	chr21	34635244	34635244	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagcgatactgaggcagcGcccaggacaagtggcggtgg	10	5	17	9	3	0	1	0	1	0	0	0	4	0	2	1	5	3	1	1	5	3	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr21:34635244G>T	ENST00000342136.4	+	9	1313	c.987G>T	c.(985-987)gcG>gcT	p.A329A	AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000382241.3_Silent_p.A329A			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	329					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTGAGGCAGCGCCCAGGACAA	0.498													7	183					5.18039e-06	5.38192e-06	1	0	T	34635244	G	T	34635244	2	4	37	1	0	0	0	0	0	0	0	1	7598	1074	38	3		3	IFNAR2	21	34635244	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08		34635244	13494651	350	7313											
TFIP11	24144	broad.mit.edu	37	chr22	26894918	26894918	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcttttccacttagagatGatctcggtgccataagtgca	10	12	10	9	1	1	2	0	1	1	1	3	3	2	2	2	2	2	2	2	2	2	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:26894918G>A	ENST00000407690.1	-	10	1636	c.1353C>T	c.(1351-1353)atC>atT	p.I451I	TFIP11_ENST00000407431.1_Silent_p.I451I|TFIP11_ENST00000405938.1_Silent_p.I451I|TFIP11_ENST00000407148.1_Silent_p.I451I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	451					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						ACTTAGAGATGATCTCGGTGC	0.552													19	333					0	0	0	0	A	26894918	G	A	26894918	2	1	37	1	0	0	0	0	0	0	0	1	15901	1280	45	2		2	TFIP11	22	26894918	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08		26894918	24409648	351	7314											
TFIP11	24144	broad.mit.edu	37	chr22	26895394	26895394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgccggtcattctggatGatctcctgctccgtgaggtc	5	12	12	12	2	3	2	1	2	2	0	6	3	4	3	3	3	3	2	3	3	0	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:26895394G>A	ENST00000407690.1	-	9	1288	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	TFIP11_ENST00000407431.1_Silent_p.I335I|TFIP11_ENST00000405938.1_Silent_p.I335I|TFIP11_ENST00000407148.1_Silent_p.I335I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	335					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CATTCTGGATGATCTCCTGCT	0.622													5	216					0	0	0	0	A	26895394	G	A	26895394	2	1	37	1	0	0	0	0	0	0	0	1	15901	1280	45	2		2	TFIP11	22	26895394	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	476	26895394	24409172	352	7315											
CDC42EP1	11135	broad.mit.edu	37	chr22	37962692	37962692	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccccggctccaccggccatCtcccccatcatcaagaacgc	8	6	6	21	3	3	1	2	0	1	1	6	1	5	1	7	2	1	1	7	2	2	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:37962692C>G	ENST00000249014.4	+	2	756	c.336C>G	c.(334-336)atC>atG	p.I112M		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	112					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CACCGGCCATCTCCCCCATCA	0.682													5	189					0	0	0	0	G	37962692	C	G	37962692	3	3	37	1	0	0	0	0	1	0	0	0	3104	903	32	2	338	2	CDC42EP1	22	37962692	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	11067298	37962692	13341874	353	7316											
LGALS1	3956	broad.mit.edu	37	chr22	38073070	38073070	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggtggctcctgacgctaaGaggtgagaagtgaagtcggg	10	7	18	6	2	0	4	0	3	0	2	2	6	1	4	1	4	0	2	1	4	3	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:38073070G>C	ENST00000215909.5	+	2	182	c.87G>C	c.(85-87)aaG>aaC	p.K29N	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	29	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CTGACGCTAAGAGGTGAGAAG	0.667													4	63					0	0	0	0	C	38073070	G	C	38073070	3	2	37	1	0	0	0	0	1	0	0	0	8791	933	33	2	93	2	LGALS1	22	38073070	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	110378	38073070	13231496	354	7317											
EIF3L	51386	broad.mit.edu	37	chr22	38254699	38254699	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttcagatgctgtcttcctGattttatacaaagaattata	12	17	5	7	0	2	3	1	1	1	2	3	3	3	3	1	0	2	1	1	0	6	7			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:38254699G>C	ENST00000412331.2	+	5	969	c.387G>C	c.(385-387)ctG>ctC	p.L129L	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Silent_p.L129L|EIF3L_ENST00000406934.1_Silent_p.L31L	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	129						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTGTCTTCCTGATTTTATACA	0.378													16	556					0	0	0	0	C	38254699	G	C	38254699	2	2	37	1	0	0	0	0	0	0	0	1	5060	1277	45	2		2	EIF3L	22	38254699	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	181629	38254699	13049867	355	7318											
TAB1	10454	broad.mit.edu	37	chr22	39814772	39814772	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttatgcaaatcgacagtgGatgggttgcaggtgacacag	11	11	13	6	1	0	1	0	1	0	0	1	3	0	2	0	3	2	3	0	3	2	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:39814772G>C	ENST00000216160.6	+	6	648	c.586G>C	c.(586-588)Gat>Cat	p.D196H	TAB1_ENST00000331454.3_Missense_Mutation_p.D196H	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	196	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						ATCGACAGTGGATGGGTTGCA	0.527													40	94					0	0	0	0	C	39814772	G	C	39814772	3	2	37	1	0	0	0	0	1	0	0	0	15586	1174	41	2	608	2	TAB1	22	39814772	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	1560073	39814772	11489794	356	7319											
FBLN1	2192	broad.mit.edu	37	chr22	45959062	45959062	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcccagggacttgctcctGaccgtcaagatggatctctc	8	9	11	13	1	2	2	1	1	1	1	5	5	3	4	3	2	2	1	3	2	1	1			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:45959062G>C	ENST00000402984.3	+	16	2185	c.2082G>C	c.(2080-2082)ctG>ctC	p.L694L	FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Silent_p.L656L|FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000348697.2_Intron			P23142	FBLN1_HUMAN	fibulin 1	674					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ACTTGCTCCTGACCGTCAAGA	0.612													10	146					0	0	0	0	C	45959062	G	C	45959062	2	2	37	1	0	0	0	0	0	0	0	1	5743	1277	45	2		2	FBLN1	22	45959062	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	6144290	45959062	5345504	357	7320											
CELSR1	9620	broad.mit.edu	37	chr22	46795748	46795748	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccggacagcatcacggactCcacatcggaggggccgtggg	8	4	15	14	4	1	0	1	0	0	0	3	3	2	3	3	6	1	1	3	6	0	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:46795748C>A	ENST00000262738.3	-	10	5277	c.5278G>T	c.(5278-5280)Gag>Tag	p.E1760*		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1760	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCACGGACTCCACATCGGAG	0.562													6	141					0.0293803	0.0298404	1	0	A	46795748	C	A	46795748	4	1	37	1	0	0	0	0	0	1	0	0	3250	864	30	2	3870	2	CELSR1	22	46795748	Nonsense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08	836686	46795748	4508818	358	7321											
MAPK12	6300	broad.mit.edu	37	chr22	50695547	50695547	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atctggtacacgaggaactgGatccggtcctcgcctagctt	8	10	11	12	3	1	0	0	0	1	0	4	3	3	2	3	4	3	2	3	4	3	3			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:50695547G>C	ENST00000215659.8	-	4	705	c.390C>G	c.(388-390)atC>atG	p.I130M	MAPK12_ENST00000395780.1_Missense_Mutation_p.I50M|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	130	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGGAACTGGATCCGGTCCT	0.667													7	98					0	0	0	0	C	50695547	G	C	50695547	3	2	37	1	0	0	0	0	1	0	0	0	9343	1164	41	2	749	2	MAPK12	22	50695547	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	3899799	50695547	609019	359	7322											
SBF1	6305	broad.mit.edu	37	chr22	50898407	50898407	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatggcatacatgcggttGaccggagaaatgcggaaggg	12	6	16	7	3	0	3	0	1	0	2	0	5	0	4	1	5	3	2	1	5	3	2			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:50898407G>C	ENST00000380817.2	-	26	3648	c.3465C>G	c.(3463-3465)gtC>gtG	p.V1155V	SBF1_ENST00000390679.3_Silent_p.V1155V|SBF1_ENST00000348911.6_Silent_p.V1156V	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1155	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACATGCGGTTGACCGGAGAAA	0.677													5	155					0	0	0	0	C	50898407	G	C	50898407	2	2	37	1	0	0	0	0	0	0	0	1	13944	1277	45	2		2	SBF1	22	50898407	Silent	SNP	G	TCGA-BB-4223-01A-01D-1434-08	202860	50898407	406159	360	7323											
ARSH	347527	broad.mit.edu	37	chrX	2947379	2947379	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccactactgtggggtctatCtgcacacggtcaggtggcat	7	11	12	11	1	3	0	1	0	2	0	4	0	4	0	1	5	2	2	1	5	2	2	rs145847839	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:2947379C>G	ENST00000381130.2	+	8	1291	c.1291C>G	c.(1291-1293)Ctg>Gtg	p.L431V		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	431						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGGGTCTATCTGCACACGGT	0.572													9	97					0	0	0	0	G	2947379	C	G	2947379	3	3	37	1	0	0	0	0	1	0	0	0	997	912	32	2	1321	2	ARSH	23	2947379	Missense_Mutation	SNP	C	TCGA-BB-4223-01A-01D-1434-08		2947379	152323181	361	7324											
S100G	795	broad.mit.edu	37	chrX	16669151	16669151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagtactaaaaagtctcctGaggaactgaagaggattttt	14	12	10	5	0	1	4	0	3	1	1	2	6	1	6	1	2	2	1	1	2	6	4			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:16669151G>A	ENST00000380200.3	+	2	76	c.22G>A	c.(22-24)Gag>Aag	p.E8K	CTPS2_ENST00000359276.4_Intron|CTPS2_ENST00000380241.3_Intron|CTPS2_ENST00000443824.1_Intron	NM_004057.2	NP_004048.1	P29377	S100G_HUMAN	S100 calcium binding protein G	8							calcium ion binding|vitamin D binding			large_intestine(1)|lung(1)	2	Hepatocellular(33;0.0997)					AAAGTCTCCTGAGGAACTGAA	0.393													5	103					0	0	0	0	A	16669151	G	A	16669151	3	1	37	1	0	0	0	0	1	0	0	0	13874	1291	45	2	24	2	S100G	23	16669151	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	13721772	16669151	138601409	362	7325											
CPXCR1	53336	broad.mit.edu	37	chrX	88008677	88008677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaagaagatctaaaagaaGagcttcttctacttcagacc	16	9	8	8	0	4	6	1	0	3	6	4	7	4	6	1	0	2	1	1	0	6	5			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:88008677G>C	ENST00000276127.4	+	3	521	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	CPXCR1_ENST00000373111.1_Missense_Mutation_p.E88Q	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	88						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCTAAAAGAAGAGCTTCTTCT	0.443													26	9					0	0	0	0	C	88008677	G	C	88008677	3	2	37	1	0	0	0	0	1	0	0	0	3866	943	33	2	264	2	CPXCR1	23	88008677	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	71339526	88008677	67261883	363	7326											
MCF2	4168	broad.mit.edu	37	chrX	138698572	138698572	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagcatcttctttagactGaaacttatctatttcctgat	10	17	5	9	0	3	4	0	3	3	1	4	4	4	4	1	0	2	1	1	0	4	6			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:138698572G>A	ENST00000520602.1	-	12	1525	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	MCF2_ENST00000536274.1_Nonsense_Mutation_p.Q315*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.Q499*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.Q414*|MCF2_ENST00000370576.4_Nonsense_Mutation_p.Q354*|MCF2_ENST00000414978.1_Nonsense_Mutation_p.Q414*|MCF2_ENST00000370573.4_Nonsense_Mutation_p.Q354*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.Q354*			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	354					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCTTTAGACTGAAACTTATCT	0.338													4	67					0	0	0	0	A	138698572	G	A	138698572	4	1	37	1	0	0	0	0	0	1	0	0	9447	1299	45	2	1865	2	MCF2	23	138698572	Nonsense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	50689895	138698572	16571988	364	7327											
SPANXN1	494118	broad.mit.edu	37	chrX	144329145	144329145	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcatcaatggggagaagagGaagagcccctgtgaatccaa	15	5	13	8	0	1	4	1	1	0	3	2	6	2	5	3	3	2	1	3	3	5	0			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:144329145G>C	ENST00000370493.3	+	1	798	c.39G>C	c.(37-39)agG>agC	p.R13S		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	13										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGAAGAGGAAGAGCCCCT	0.463													3	166					0	0	0	0	C	144329145	G	C	144329145	3	2	37	1	0	0	0	0	1	0	0	0	15080	1165	41	2	41	2	SPANXN1	23	144329145	Missense_Mutation	SNP	G	TCGA-BB-4223-01A-01D-1434-08	5630573	144329145	10941415	365	7328											
GPATCH3	63906	broad.mit.edu	37	chr1	27226589	27226589	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtacatgcgaataagcctCtgagcttgagccaaccccct	11	8	9	13	1	1	2	0	2	1	0	1	4	1	2	4	0	6	2	4	0	4	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:27226589C>G	ENST00000361720.5	-	1	368	c.345G>C	c.(343-345)caG>caC	p.Q115H		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	115						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GAATAAGCCTCTGAGCTTGAG	0.622													42	84					0	0	0	0	G	27226589	C	G	27226589	3	3	38	1	0	0	0	0	1	0	0	0	6641	912	32	2	1260	2	GPATCH3	1	27226589	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08		27226589	222024032	1	7329											
OSCP1	127700	broad.mit.edu	37	chr1	36904426	36904426	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgctcatagacagtcctcagGgccttcttggagtagagctc	8	10	11	12	1	3	2	2	0	1	2	5	3	4	3	2	2	1	3	2	2	2	4	rs139567315	byFrequency	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:36904426G>A	ENST00000356637.5	-	3	291	c.228C>T	c.(226-228)gcC>gcT	p.A76A	OSCP1_ENST00000235532.5_Silent_p.A66A|OSCP1_ENST00000315643.9_Silent_p.A76A|OSCP1_ENST00000354267.3_Silent_p.A66A|OSCP1_ENST00000433045.2_Silent_p.A21A			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	76					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						CAGTCCTCAGGGCCTTCTTGG	0.473													28	63					0	0	0	0	A	36904426	G	A	36904426	2	1	38	1	0	0	0	0	0	0	0	1	11357	1219	43	4		4	OSCP1	1	36904426	Silent	SNP	G	TCGA-BB-4224-01A-01D-1434-08	9677837	36904426	212346195	2	7330											
FAM151A	338094	broad.mit.edu	37	chr1	55078320	55078320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggggacgtggacatgtaGaaggtggtccagcctggaga	9	9	17	6	1	0	2	0	0	0	2	1	5	1	4	2	6	1	1	2	6	2	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:55078320G>T	ENST00000302250.2	-	5	799	c.639C>A	c.(637-639)ttC>ttA	p.F213L	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.F213L	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	213						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGGACATGTAGAAGGTGGTCC	0.567													16	76					6.94344e-10	7.48216e-10	1	0	T	55078320	G	T	55078320	3	4	38	1	0	0	0	0	1	0	0	0	5499	933	33	2	1134	2	FAM151A	1	55078320	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	18173894	55078320	194172301	3	7331											
RPRD2	23248	broad.mit.edu	37	chr1	150390094	150390094	+	Missense_Mutation	SNP	T	T	A																															gcatatccccaccgtttgaaTctcttttaccttgccaatga																										TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:150390094T>A	ENST00000401000.4	+	2	293	c.228T>A	c.(226-228)aaT>aaA	p.N76K	RPRD2_ENST00000369067.3_Missense_Mutation_p.N76K|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.N76K|RPRD2_ENST00000369068.4_Missense_Mutation_p.N76K			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	76	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACCGTTTGAATCTCTTTTACC	0.363													81	207					0	0	0	0	A	150390094	T	A	150390094	3	1	38	1	0	0	0	0	1	0	0	0	13702	1432	50	5	234	5	RPRD2	1	150390094	Missense_Mutation	SNP	T	TCGA-BB-4224-01A-01D-1434-08	95311774	150390094	98860527	4	7332	64	2									
RPRD2	23248	broad.mit.edu	37	chr1	150390095	150390095	+	Missense_Mutation	SNP	C	C	G																															catatccccaccgtttgaatCtcttttaccttgccaatgat																										TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:150390095C>G	ENST00000401000.4	+	2	294	c.229C>G	c.(229-231)Ctc>Gtc	p.L77V	RPRD2_ENST00000369067.3_Missense_Mutation_p.L77V|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.L77V|RPRD2_ENST00000369068.4_Missense_Mutation_p.L77V			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	77	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCGTTTGAATCTCTTTTACCT	0.363													83	207					0	0	0	0	G	150390095	C	G	150390095	3	3	38	1	0	0	0	0	1	0	0	0	13702	913	32	2	235	2	RPRD2	1	150390095	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	1	150390095	98860526	5	7333	64	2									
ACBD6	84320	broad.mit.edu	37	chr1	180471245	180471245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctgaatcaggccttgcaGgtgcgcggcagccttctcaa	8	8	11	14	2	2	1	2	1	1	0	3	1	2	1	3	3	3	2	3	3	2	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:180471245G>T	ENST00000367595.3	-	1	844	c.157C>A	c.(157-159)Ctg>Atg	p.L53M		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	53	ACB.					cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						AGGCCTTGCAGGTGCGCGGCA	0.602													32	10					6.50621e-10	7.07197e-10	1	0	T	180471245	G	T	180471245	3	4	38	1	0	0	0	0	1	0	0	0	126	991	35	4	723	4	ACBD6	1	180471245	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	30081150	180471245	68779376	6	7334											
PCNXL2	80003	broad.mit.edu	37	chr1	233275516	233275516	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatcaatagtgagggcattCaaaattagcgctgggtacaa	14	9	11	7	1	2	1	2	1	0	0	2	1	2	1	0	2	2	4	0	2	7	4			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:233275516C>G	ENST00000258229.8	-	20	3837	c.3603G>C	c.(3601-3603)ttG>ttC	p.L1201F	PCNXL2_ENST00000488780.2_Missense_Mutation_p.L334F|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1201						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGAGGGCATTCAAAATTAGCG	0.358													6	21					0	0	0	0	G	233275516	C	G	233275516	3	3	38	1	0	0	0	0	1	0	0	0	11663	825	29	2	2870	2	PCNXL2	1	233275516	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	52804271	233275516	15975105	7	7335											
NRXN1	9378	broad.mit.edu	37	chr2	50464073	50464073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccacttatacgtgatttGtccaccacctttgctaaaga	11	12	7	11	1	0	2	0	1	0	1	1	2	1	2	4	1	2	1	4	1	4	5			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr2:50464073G>C	ENST00000404971.1	-	19	4859	c.3520C>G	c.(3520-3522)Caa>Gaa	p.Q1174E	NRXN1_ENST00000406316.2_Missense_Mutation_p.Q1134E|NRXN1_ENST00000342183.5_Missense_Mutation_p.Q99E|NRXN1_ENST00000401710.1_Missense_Mutation_p.Q152E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q1134E|NRXN1_ENST00000401669.2_Missense_Mutation_p.Q1134E|NRXN1_ENST00000405472.3_Missense_Mutation_p.Q1126E|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q1126E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1134	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TACGTGATTTGTCCACCACCT	0.448													40	106					0	0	0	0	C	50464073	G	C	50464073	3	2	38	1	0	0	0	0	1	0	0	0	10736	1386	48	4	1147	4	NRXN1	2	50464073	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08		50464073	192735300	8	7336											
LRP2	4036	broad.mit.edu	37	chr2	170063539	170063539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtggtgtgacaatgccctCtgacacaagcactgttcgat	9	10	10	12	2	1	2	0	2	1	0	2	3	1	2	2	1	2	2	2	1	2	1			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr2:170063539C>T	ENST00000263816.3	-	39	6976	c.6691G>A	c.(6691-6693)Gag>Aag	p.E2231K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2231					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAATGCCCTCTGACACAAGC	0.463													68	185					0	0	0	0	T	170063539	C	T	170063539	3	4	38	1	0	0	0	0	1	0	0	0	9020	922	32	2	7440	2	LRP2	2	170063539	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	119599466	170063539	73135834	9	7337											
CTNNB1	1499	broad.mit.edu	37	chr3	41275254	41275254	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcgtcatctgaccagcCgacaccaagaagcagagatg	12	7	9	13	2	3	3	1	1	2	2	4	5	3	3	3	0	2	1	3	0	2	1			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr3:41275254C>T	ENST00000349496.5	+	9	1700	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.R474*|CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.R474*|CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.R467*|CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.R474*	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	474					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCTGACCAGCCGACACCAAGA	0.542		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				75	103					0	0	0	0	T	41275254	C	T	41275254	4	4	38	1	0	0	0	0	0	1	0	0	4048	644	23	1	1450	1	CTNNB1	3	41275254	Nonsense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08		41275254	156747176	10	7338											
MYLK	4638	broad.mit.edu	37	chr3	123419396	123419396	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggggtggcaggttttggCggtggcaccttctcaggcac	4	10	16	11	2	1	0	1	0	1	0	3	0	2	0	2	8	0	4	2	8	0	3	rs149482336		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr3:123419396C>T	ENST00000360772.3	-	19	3297	c.2919G>A	c.(2917-2919)ccG>ccA	p.P973P	MYLK_ENST00000359169.1_Silent_p.P973P|MYLK_ENST00000346322.5_Silent_p.P904P|MYLK_ENST00000475616.1_Silent_p.P973P|MYLK_ENST00000360304.3_Silent_p.P973P			Q15746	MYLK_HUMAN	myosin light chain kinase	973	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGGTTTTGGCGGTGGCACCT	0.587													4	115					0	0	0	0	T	123419396	C	T	123419396	2	4	38	1	0	0	0	0	0	0	0	1	10126	755	27	1		1	MYLK	3	123419396	Silent	SNP	C	TCGA-BB-4224-01A-01D-1434-08	82144142	123419396	74603034	11	7339											
COL6A6	131873	broad.mit.edu	37	chr3	130300633	130300633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtttgagatctacagtgAaaacatactgaatagcttga	16	11	8	6	0	1	4	0	4	1	1	1	5	1	4	0	0	4	2	0	0	7	5			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr3:130300633A>G	ENST00000358511.6	+	8	3807	c.3776A>G	c.(3775-3777)gAa>gGa	p.E1259G	COL6A6_ENST00000453409.2_Missense_Mutation_p.E1259G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1259	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATCTACAGTGAAAACATACTG	0.403													54	207					0	0	0	0	G	130300633	A	G	130300633	3	3	38	1	0	0	0	0	1	0	0	0	3733	246	9	5	3806	5	COL6A6	3	130300633	Missense_Mutation	SNP	A	TCGA-BB-4224-01A-01D-1434-08	6881237	130300633	67721797	12	7340											
MRFAP1L1	114932	broad.mit.edu	37	chr4	6711285	6711285	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgggagcaggaactgctcGaaatcctcctcgggctccag	9	6	12	14	3	0	0	0	0	0	0	5	3	3	2	4	3	3	3	4	3	2	0			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:6711285G>A	ENST00000320848.6	-	1	322	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_203462.2	NP_982287.1	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	24																	GGAACTGCTCGAAATCCTCCT	0.632													29	51					0	0	0	0	A	6711285	G	A	6711285	2	1	38	1	0	0	0	0	0	0	0	1	9832	1049	37	1		1	MRFAP1L1	4	6711285	Silent	SNP	G	TCGA-BB-4224-01A-01D-1434-08		6711285	184442991	13	7341											
CEP135	9662	broad.mit.edu	37	chr4	56830566	56830566	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattgctcatttaaatattCaggtaatggcttttataatt	12	20	5	4	0	2	0	2	0	0	0	2	0	2	0	0	2	1	3	0	2	7	11			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:56830566C>G	ENST00000257287.4	+	7	950	c.826C>G	c.(826-828)Cag>Gag	p.Q276E		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	276					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTTAAATATTCAGGTAATGGC	0.348													14	32					0	0	0	0	G	56830566	C	G	56830566	3	3	38	1	0	0	0	0	1	0	0	0	3276	827	29	2	848	2	CEP135	4	56830566	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	50119281	56830566	134323710	14	7342											
YTHDC1	91746	broad.mit.edu	37	chr4	69195943	69195944	+	Frame_Shift_Del	DEL	AC	AC	-																															gaaattttccactctctctgAcagaaaatattaagataaca																										TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:69195943_69195944delAC	ENST00000344157.4	-	8	1542_1543	c.1207_1208delGT	c.(1207-1209)cfs	p.V403fs	YTHDC1_ENST00000579690.1_Frame_Shift_Del_p.V403fs|YTHDC1_ENST00000355665.3_Frame_Shift_Del_p.V385fs	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	403	YTH.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ACTCTCTCTGACAGAAAATATT	0.277													8	41	---	---	---	---					-	69195944	AC	-	69195943	7	5	38	1	0	1	0	1	0	0	0	0	17592	275	10	0	1015	0	YTHDC1	4	69195943	Frame_Shift_Del	DEL	AC	TCGA-BB-4224-01A-01D-1434-08	12365377	69195943	121958333	15	7343											
PLA2G12A	81579	broad.mit.edu	37	chr4	110650952	110650952	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggagggtgagcgcggggcgcGagagcagggccatgcgcgca	7	2	22	10	6	0	2	0	1	0	1	0	4	0	3	1	5	3	2	1	5	0	0			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:110650952G>C	ENST00000243501.5	-	1	281	c.14C>G	c.(13-15)tCg>tGg	p.S5W	PLA2G12A_ENST00000502283.1_Missense_Mutation_p.S5W	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	5					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		CGCGGGGCGCGAGAGCAGGGC	0.736													2	5					0	0	0	0	C	110650952	G	C	110650952	3	2	38	1	0	0	0	0	1	0	0	0	12062	1059	37	3	571	3	PLA2G12A	4	110650952	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	41455009	110650952	80503324	16	7344											
TDO2	6999	broad.mit.edu	37	chr4	156825277	156825277	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatgggaactacctgcatgTaagtggcagggtccttacag	10	10	12	9	0	0	0	0	0	0	0	1	1	1	1	2	3	4	3	2	3	5	4			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:156825277T>C	ENST00000536354.2	+	2	205		c.e2+2			NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase						tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TACCTGCATGTAAGTGGCAGG	0.423													24	33					0	0	0	0	C	156825277	T	C	156825277	5	2	38	1	0	0	0	0	0	0	1	0	15821	1652	57	5	149	5	TDO2	4	156825277	Splice_Site	SNP	T	TCGA-BB-4224-01A-01D-1434-08	46174325	156825277	34328999	17	7345											
DNAH5	1767	broad.mit.edu	37	chr5	13817674	13817674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctttctttgctcttaatGttttcctccaaagcgtagaa	9	17	5	10	1	2	1	0	0	2	1	4	1	4	1	3	0	3	3	3	0	5	7			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr5:13817674G>T	ENST00000265104.4	-	42	7075	c.6971C>A	c.(6970-6972)aCa>aAa	p.T2324K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2324	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCTCTTAATGTTTTCCTCCA	0.383									Kartagener syndrome				20	123					5.35267e-07	5.71866e-07	1	0	T	13817674	G	T	13817674	3	4	38	1	0	0	0	0	1	0	0	0	4641	1377	48	4	7055	4	DNAH5	5	13817674	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08		13817674	167097586	18	7346											
MYO10	4651	broad.mit.edu	37	chr5	16694532	16694532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctcctcgctgtcgttttCaaagtacatcagcttggact	7	15	7	12	2	3	0	2	0	1	0	6	1	3	1	1	1	2	4	1	1	2	5			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr5:16694532C>T	ENST00000513610.1	-	27	4202	c.3748G>A	c.(3748-3750)Gaa>Aaa	p.E1250K	MYO10_ENST00000505695.1_Missense_Mutation_p.E589K|MYO10_ENST00000515803.1_Missense_Mutation_p.E589K|MYO10_ENST00000274203.9_Missense_Mutation_p.E607K|MYO10_ENST00000427430.2_Missense_Mutation_p.E607K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1250	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.E1250Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTGTCGTTTTCAAAGTACATC	0.552													61	227					0	0	0	0	T	16694532	C	T	16694532	3	4	38	1	0	0	0	0	1	0	0	0	10132	835	29	2	2488	2	MYO10	5	16694532	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	2876858	16694532	164220728	19	7347											
RICTOR	253260	broad.mit.edu	37	chr5	38949505	38949505	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttaagctcctgattcccccGacatgcttctttttaaaatc	9	15	4	13	1	1	1	0	1	1	0	4	2	3	1	3	0	2	2	3	0	3	6	rs145088420	by1000genomes	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr5:38949505G>A	ENST00000296782.5	-	32	4182	c.4161C>T	c.(4159-4161)gtC>gtT	p.V1387V	RICTOR_ENST00000357387.3_Intron			Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1378					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGATTCCCCCGACATGCTTCT	0.333													24	94					0	0	0	0	A	38949505	G	A	38949505	2	1	38	1	0	0	0	0	0	0	0	1	13441	1073	37	1		1	RICTOR	5	38949505	Silent	SNP	G	TCGA-BB-4224-01A-01D-1434-08	22254973	38949505	141965755	20	7348											
FYB	2533	broad.mit.edu	37	chr5	39139348	39139348	+	Frame_Shift_Del	DEL	C	C	-																															atctgacctcatctagatttCcagcacctaaaagattaaaa																										TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr5:39139348delC	ENST00000351578.6	-	5	1536	c.1346delG	c.(1345-1347)gafs	p.G449fs	FYB_ENST00000505428.1_Frame_Shift_Del_p.G449fs|FYB_ENST00000515010.1_Frame_Shift_Del_p.G449fs|FYB_ENST00000540520.1_Frame_Shift_Del_p.G459fs|FYB_ENST00000512982.1_Frame_Shift_Del_p.G449fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	449					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATCTAGATTTCCAGCACCTAA	0.244													2	4	---	---	---	---					-	39139348	C	-	39139348	7	5	38	1	0	1	0	1	0	0	0	0	6172	855	30	0	1203	0	FYB	5	39139348	Frame_Shift_Del	DEL	C	TCGA-BB-4224-01A-01D-1434-08	189843	39139348	141775912	21	7349											
RREB1	6239	broad.mit.edu	37	chr6	7229363	7229363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatgtggcggcagaccaggGtcaagaaaagccgcaggcca	12	3	14	12	2	1	2	1	0	0	2	1	2	1	2	4	4	1	2	4	4	3	0	rs114551633	by1000genomes	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:7229363G>A	ENST00000379938.2	+	10	1568	c.1031G>A	c.(1030-1032)gGt>gAt	p.G344D	RREB1_ENST00000349384.6_Missense_Mutation_p.G344D|RREB1_ENST00000379933.3_Missense_Mutation_p.G344D|RREB1_ENST00000334984.6_Missense_Mutation_p.G344D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	344					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCAGACCAGGGTCAAGAAAAG	0.622													16	30					0	0	0	0	A	7229363	G	A	7229363	3	1	38	1	0	0	0	0	1	0	0	0	13764	1261	44	4	1057	4	RREB1	6	7229363	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08		7229363	163885704	22	7350											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114408	27114408	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgattcccatggccttaGaggagatgccggtgtcgggg	7	10	15	9	2	1	3	1	1	0	2	3	4	2	3	3	5	1	0	3	5	1	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:27114408G>C	ENST00000396891.4	-	1	211	c.170C>G	c.(169-171)tCt>tGt	p.S57C	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.S57C	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	57					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CATGGCCTTAGAGGAGATGCC	0.577													69	414					0	0	0	0	C	27114408	G	C	27114408	3	2	38	1	0	0	0	0	1	0	0	0	7200	942	33	2	214	2	HIST1H2BK	6	27114408	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	19885045	27114408	144000659	23	7351											
OR5V1	81696	broad.mit.edu	37	chr6	29323454	29323454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaagaagtaattaatCtgattgttgccacagaaggg	15	10	10	6	0	2	4	1	1	1	3	2	4	2	4	1	1	1	2	1	1	5	4			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:29323454C>A	ENST00000377154.1	-	4	818	c.519G>T	c.(517-519)caG>caT	p.Q173H	OR5V1_ENST00000543825.1_Missense_Mutation_p.Q173H			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTAATTAATCTGATTGTTGC	0.463													35	140					3.93418e-24	4.55345e-24	1	0	A	29323454	C	A	29323454	3	1	38	1	0	0	0	0	1	0	0	0	11255	912	32	2	449	2	OR5V1	6	29323454	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	2209046	29323454	141791613	24	7352											
PSMB9	5698	broad.mit.edu	37	chr6	32822031	32822031	+	Frame_Shift_Del	DEL	G	G	-																															tgcgggcgggagcaccaaccGgggacttaccccgggcggga																										TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:32822031delG	ENST00000374859.2	+	1	94	c.25delG	c.(25-27)ggfs	p.G9fs	PSMB9_ENST00000453265.2_Frame_Shift_Del_p.G9fs|PSMB9_ENST00000395330.1_Intron	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	9			G -> E (in dbSNP:rs35100697).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			large_intestine(4)|lung(4)|skin(1)	9						AGCACCAACCGGGGACTTACC	0.692													2	4	---	---	---	---					-	32822031	G	-	32822031	7	5	38	1	0	1	0	1	0	0	0	0	12763	1116	39	0	27	0	PSMB9	6	32822031	Frame_Shift_Del	DEL	G	TCGA-BB-4224-01A-01D-1434-08	3498577	32822031	138293036	25	7353											
TNFRSF21	27242	broad.mit.edu	37	chr6	47254185	47254185	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacgcgcaggcttgtgttGgtacaatgctcagagacata	11	9	12	9	2	1	2	1	0	0	2	1	3	1	2	0	2	2	5	0	2	3	4			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:47254185G>T	ENST00000296861.2	-	2	636	c.243C>A	c.(241-243)acC>acA	p.T81T		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	81					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGCTTGTGTTGGTACAATGCT	0.542													20	57					3.51602e-12	3.85528e-12	1	0	T	47254185	G	T	47254185	2	4	38	1	0	0	0	0	0	0	0	1	16389	1335	47	4		4	TNFRSF21	6	47254185	Silent	SNP	G	TCGA-BB-4224-01A-01D-1434-08	14432154	47254185	123860882	26	7354											
AKAP12	9590	broad.mit.edu	37	chr6	151671735	151671735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggttcccaagaacatgatCcagggcagggaagttcctcc	10	8	11	12	0	0	2	0	1	0	1	4	3	4	3	4	3	1	3	4	3	3	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:151671735C>A	ENST00000402676.2	+	4	2449	c.2209C>A	c.(2209-2211)Cca>Aca	p.P737T	AKAP12_ENST00000359755.5_Missense_Mutation_p.P632T|AKAP12_ENST00000354675.6_Missense_Mutation_p.P639T|AKAP12_ENST00000253332.1_Missense_Mutation_p.P737T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	737					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAACATGATCCAGGGCAGGG	0.547													67	181					8.33888e-18	9.39063e-18	1	0	A	151671735	C	A	151671735	3	1	38	1	0	0	0	0	1	0	0	0	448	855	30	2	2248	2	AKAP12	6	151671735	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	104417550	151671735	19443332	27	7355											
TNRC18	84629	broad.mit.edu	37	chr7	5413746	5413746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caactccaagtctttcttctCgaccacattctcgggagcct	8	12	6	15	2	4	0	0	0	4	0	7	2	5	1	3	1	2	0	3	1	2	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:5413746C>T	ENST00000399537.4	-	10	3517	c.3169G>A	c.(3169-3171)Gag>Aag	p.E1057K	TNRC18_ENST00000430969.1_Missense_Mutation_p.E1057K			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1057	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCTTTCTTCTCGACCACATTC	0.677													3	40					0	0	0	0	T	5413746	C	T	5413746	3	4	38	1	0	0	0	0	1	0	0	0	16433	893	31	1	5821	1	TNRC18	7	5413746	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08		5413746	153724917	28	7356											
ABCA13	154664	broad.mit.edu	37	chr7	48411940	48411940	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcttggattttgggatgtCagtcgtcatgctgagctacc	6	15	11	9	1	3	1	2	1	1	0	5	3	3	3	1	2	3	2	1	2	1	4			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:48411940C>G	ENST00000435803.1	+	33	11003	c.10979C>G	c.(10978-10980)tCa>tGa	p.S3660*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3660					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						TTTGGGATGTCAGTCGTCATG	0.458													83	673					0	0	0	0	G	48411940	C	G	48411940	4	3	38	1	0	0	0	0	0	1	0	0	31	838	29	2	10938	2	ABCA13	7	48411940	Nonsense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	42998194	48411940	110726723	29	7357											
SEMA3A	10371	broad.mit.edu	37	chr7	83643635	83643635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttcaggattgtcactctCtgagatgaggtgggcactaa	10	12	11	8	0	4	2	2	2	2	1	5	4	4	3	0	3	0	1	0	3	1	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:83643635C>T	ENST00000265362.3	-	7	1014	c.700G>A	c.(700-702)Gag>Aag	p.E234K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.E234K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	234	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTGTCACTCTCTGAGATGAGG	0.368													21	60					0	0	0	0	T	83643635	C	T	83643635	3	4	38	1	0	0	0	0	1	0	0	0	14111	922	32	2	1659	2	SEMA3A	7	83643635	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	35231695	83643635	75495028	30	7358											
ZNF804B	219578	broad.mit.edu	37	chr7	88965298	88965298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcaattccaaggactaCggagaaagacaaaagcaaaa	20	4	9	8	1	0	2	0	0	0	2	1	4	1	3	1	2	3	2	1	2	8	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:88965298C>T	ENST00000333190.4	+	4	3611	c.3002C>T	c.(3001-3003)aCg>aTg	p.T1001M		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1001						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCAAGGACTACGGAGAAAGAC	0.368										HNSCC(36;0.09)			29	58					0	0	0	0	T	88965298	C	T	88965298	3	4	38	1	0	0	0	0	1	0	0	0	18264	536	19	1	3016	1	ZNF804B	7	88965298	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	5321663	88965298	70173365	31	7359											
COL1A2	1278	broad.mit.edu	37	chr7	94027705	94027705	+	Frame_Shift_Del	DEL	A	A	-																															cttttctaggaaactgtaagAaaggtaagagtacactactt																										TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:94027705delA	ENST00000297268.6	+	3	564	c.93delA	c.(91-93)agfs	p.R31fs		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	31					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAACTGTAAGAAAGGTAAGAG	0.234										HNSCC(75;0.22)			2	4	---	---	---	---					-	94027705	A	-	94027705	7	5	38	1	0	1	0	1	0	0	0	0	3708	243	9	0	103	0	COL1A2	7	94027705	Frame_Shift_Del	DEL	A	TCGA-BB-4224-01A-01D-1434-08	5062407	94027705	65110958	32	7360											
BCAP29	55973	broad.mit.edu	37	chr7	107224424	107224424	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctattgattgttctatttCtaggtaagtactagatccct	9	18	6	8	0	2	2	0	1	2	1	4	2	4	2	2	1	1	3	2	1	6	10			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:107224424C>T	ENST00000379119.2	+	2	204	c.190C>T	c.(190-192)Cta>Tta	p.L64L	BCAP29_ENST00000445771.2_Silent_p.L64L|BCAP29_ENST00000005259.4_Silent_p.L64L|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000465919.1_5'UTR|BCAP29_ENST00000379117.2_Silent_p.L64L	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	64					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						TGTTCTATTTCTAGGTAAGTA	0.294													23	67					0	0	0	0	T	107224424	C	T	107224424	2	4	38	1	0	0	0	0	0	0	0	1	1350	912	32	2		2	BCAP29	7	107224424	Silent	SNP	C	TCGA-BB-4224-01A-01D-1434-08	13196719	107224424	51914239	33	7361											
CREB3L2	64764	broad.mit.edu	37	chr7	137686374	137686374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtacatgagggcctcgccGtccccgggctctgacagctc	5	8	13	15	3	1	2	0	2	1	0	4	2	2	2	4	3	2	3	4	3	1	1			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:137686374G>C	ENST00000330387.6	-	1	429	c.78C>G	c.(76-78)gaC>gaG	p.D26E	CREB3L2_ENST00000456390.1_Missense_Mutation_p.D26E|CREB3L2_ENST00000468127.1_5'UTR|CREB3L2_ENST00000452463.1_Missense_Mutation_p.D26E	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	26					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GGGCCTCGCCGTCCCCGGGCT	0.706			T	FUS	fibromyxoid sarcoma								14	39					0	0	0	0	C	137686374	G	C	137686374	3	2	38	1	0	0	0	0	1	0	0	0	3887	1136	40	3	1532	3	CREB3L2	7	137686374	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	30461950	137686374	21452289	34	7362											
WWP1	11059	broad.mit.edu	37	chr8	87460450	87460450	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgtatgttaagtaaaaaacTtactattaaggatttggaat	16	14	8	3	1	0	0	0	0	0	0	0	2	0	2	0	2	2	3	0	2	9	7			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:87460450T>A	ENST00000517970.1	+	19	2379	c.2072T>A	c.(2071-2073)cTt>cAt	p.L691H	WWP1_ENST00000341922.2_Missense_Mutation_p.L561H|WWP1_ENST00000265428.4_Missense_Mutation_p.L691H|WWP1_ENST00000349423.2_Missense_Mutation_p.L473H	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	691	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGTAAAAAACTTACTATTAAG	0.274													17	104					0	0	0	0	A	87460450	T	A	87460450	3	1	38	1	0	0	0	0	1	0	0	0	17511	1609	56	5	2138	5	WWP1	8	87460450	Missense_Mutation	SNP	T	TCGA-BB-4224-01A-01D-1434-08		87460450	58903572	35	7363											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457059	110457059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccaatgaatttgataggcGatttgtacttttgccaaaca	12	14	8	7	1	0	2	0	2	0	0	1	3	1	2	2	1	3	1	2	1	5	6			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:110457059G>A	ENST00000378402.5	+	38	5065	c.4961G>A	c.(4960-4962)cGa>cAa	p.R1654Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1654					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGATAGGCGATTTGTACTT	0.433										HNSCC(38;0.096)			187	517					0	0	0	0	A	110457059	G	A	110457059	3	1	38	1	0	0	0	0	1	0	0	0	12044	1058	37	1	5111	1	PKHD1L1	8	110457059	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	22996609	110457059	35906963	36	7364											
ADCY8	114	broad.mit.edu	37	chr8	131862050	131862050	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatggtcattggcatcactCtgcagggaaacacagaatgt	12	9	12	8	0	3	1	2	0	1	1	3	3	3	3	0	4	2	2	0	4	2	1			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:131862050C>T	ENST00000286355.5	-	10	4303		c.e10-1		ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGCATCACTCTGCAGGGAAA	0.468										HNSCC(32;0.087)			3	46					0	0	0	0	T	131862050	C	T	131862050	5	4	38	1	0	0	0	0	0	0	1	0	300	927	32	2	1581	2	ADCY8	8	131862050	Splice_Site	SNP	C	TCGA-BB-4224-01A-01D-1434-08	21404991	131862050	14501972	37	7365											
NAPRT1	93100	broad.mit.edu	37	chr8	144659233	144659233	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttagaggagggactgaccGggtcagggggcacctcgctg	7	7	18	9	2	1	2	1	1	0	1	2	4	1	4	2	5	0	3	2	5	1	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:144659233G>A	ENST00000449291.2	-	5	977	c.684_splice	c.e5+1	p.P228_splice	NAPRT1_ENST00000276844.7_Splice_Site_p.P228_splice|NAPRT1_ENST00000435154.3_Splice_Site_p.P228_splice|NAPRT1_ENST00000426292.3_Splice_Site_p.P228_splice|RP11-661A12.9_ENST00000531730.1_RNA			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	228					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGACTGACCGGGTCAGGGGG	0.677													7	82					0	0	0	0	A	144659233	G	A	144659233	5	1	38	1	0	0	0	0	0	0	1	0	10235	1130	39	1	969	1	NAPRT1	8	144659233	Splice_Site	SNP	G	TCGA-BB-4224-01A-01D-1434-08	12797183	144659233	1704789	38	7366											
KIAA1161	57462	broad.mit.edu	37	chr9	34371689	34371689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcaccagcgcaggtaacCggcccgtgggttcgcgcacg	7	4	15	15	7	0	0	0	0	0	0	1	0	0	0	3	3	3	5	3	3	1	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:34371689C>T	ENST00000297625.7	-	2	1376	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	418					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGCAGGTAACCGGCCCGTGGG	0.672													5	25					0	0	0	0	T	34371689	C	T	34371689	3	4	38	1	0	0	0	0	1	0	0	0	8262	652	23	1	895	1	KIAA1161	9	34371689	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08		34371689	106841742	39	7367											
TRPM6	140803	broad.mit.edu	37	chr9	77377269	77377269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgatcttggcttgggaaaGaggggagctcattgtcatgg	9	11	15	6	0	3	2	2	1	1	1	3	4	3	4	0	5	1	2	0	5	1	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:77377269G>A	ENST00000451710.3	-	26	4555	c.4318C>T	c.(4318-4320)Ctt>Ttt	p.L1440F	TRPM6_ENST00000360774.1_Missense_Mutation_p.L1440F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L1435F|TRPM6_ENST00000376864.4_Missense_Mutation_p.L1440F|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1435F			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1440					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						GCTTGGGAAAGAGGGGAGCTC	0.473													44	207					0	0	0	0	A	77377269	G	A	77377269	3	1	38	1	0	0	0	0	1	0	0	0	16685	942	33	2	1806	2	TRPM6	9	77377269	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	43005580	77377269	63836162	40	7368											
ZNF169	169841	broad.mit.edu	37	chr9	97062822	97062822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagtgtgggcgaggctttCgccagaagatagccctcctt	8	9	14	10	2	0	2	0	0	0	2	2	4	1	3	3	3	1	1	3	3	2	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:97062822C>T	ENST00000395395.2	+	5	1072	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	328						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GCGAGGCTTTCGCCAGAAGAT	0.542													45	269					0	0	0	0	T	97062822	C	T	97062822	3	4	38	1	0	0	0	0	1	0	0	0	17837	884	31	1	996	1	ZNF169	9	97062822	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	19685553	97062822	44150609	41	7369											
ZNF510	22869	broad.mit.edu	37	chr9	99521950	99521950	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaactctgtgaaccgacgTctggtaggatttcttatttt	8	15	10	8	3	3	1	0	1	3	0	3	4	3	2	1	2	2	1	1	2	4	5			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:99521950T>A	ENST00000375231.1	-	6	1812	c.1162A>T	c.(1162-1164)Acg>Tcg	p.T388S	ZNF510_ENST00000223428.4_Missense_Mutation_p.T388S			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGAACCGACGTCTGGTAGGAT	0.393													82	445					0	0	0	0	A	99521950	T	A	99521950	3	1	38	1	0	0	0	0	1	0	0	0	18049	1667	58	5	893	5	ZNF510	9	99521950	Missense_Mutation	SNP	T	TCGA-BB-4224-01A-01D-1434-08	2459128	99521950	41691481	42	7370											
NANS	54187	broad.mit.edu	37	chr9	100845233	100845233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaaggctatcctcctgaaGacatctttaatctagtgggc	11	11	8	11	0	2	2	0	1	2	1	4	2	4	2	3	2	0	1	3	2	5	4			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:100845233G>A	ENST00000210444.5	+	6	1046	c.976G>A	c.(976-978)Gac>Aac	p.D326N	TRIM14_ENST00000478530.1_Intron|NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	326	AFP-like.				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TCCTCCTGAAGACATCTTTAA	0.458													24	125					0	0	0	0	A	100845233	G	A	100845233	3	1	38	1	0	0	0	0	1	0	0	0	10225	942	33	2	998	2	NANS	9	100845233	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	1323283	100845233	40368198	43	7371											
OR13C4	138804	broad.mit.edu	37	chr9	107288872	107288872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgagcagaggaagaactaGgaaagcaatatttgacactg	17	6	11	7	1	0	3	0	1	0	2	0	6	0	5	0	2	3	2	0	2	6	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:107288872G>T	ENST00000277216.3	-	1	618	c.619C>A	c.(619-621)Cta>Ata	p.L207I		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGAAGAACTAGGAAAGCAATA	0.383													64	137					1.48873e-21	1.70725e-21	1	0	T	107288872	G	T	107288872	3	4	38	1	0	0	0	0	1	0	0	0	11007	991	35	4	339	4	OR13C4	9	107288872	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	6443639	107288872	33924559	44	7372											
ENTPD8	377841	broad.mit.edu	37	chr9	140332687	140332687	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgaggcctgagaccccCgaggcccccagcagggccaa	8	2	14	17	2	0	2	0	2	0	1	0	4	0	2	7	3	1	1	7	3	1	0			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:140332687C>T	ENST00000371506.2	-	2	234	c.51G>A	c.(49-51)tcG>tcA	p.S17S	ENTPD8_ENST00000472938.1_Silent_p.S17S|ENTPD8_ENST00000344119.2_Silent_p.S17S	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	17						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CTGAGACCCCCGAGGCCCCCA	0.697													6	27					0	0	0	0	T	140332687	C	T	140332687	2	4	38	1	0	0	0	0	0	0	0	1	5183	639	23	1		1	ENTPD8	9	140332687	Silent	SNP	C	TCGA-BB-4224-01A-01D-1434-08	33043815	140332687	880744	45	7373											
ZMYND11	10771	broad.mit.edu	37	chr10	294288	294288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttttaggaaccagagcctGaaacagaagcagtaagttct	14	9	9	9	0	1	3	0	1	1	2	1	4	1	4	3	1	4	3	3	1	5	4			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:294288G>A	ENST00000397962.3	+	13	1668	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	ZMYND11_ENST00000381607.4_Missense_Mutation_p.E320K|ZMYND11_ENST00000403354.1_Missense_Mutation_p.E334K|ZMYND11_ENST00000381604.4_Missense_Mutation_p.E374K|ZMYND11_ENST00000402736.1_Missense_Mutation_p.E383K|ZMYND11_ENST00000535374.1_Missense_Mutation_p.E209K|ZMYND11_ENST00000545619.1_Missense_Mutation_p.E294K|ZMYND11_ENST00000381591.1_Missense_Mutation_p.E414K|ZMYND11_ENST00000309776.4_Missense_Mutation_p.E374K|ZMYND11_ENST00000397959.3_Missense_Mutation_p.E329K|ZMYND11_ENST00000509513.2_Missense_Mutation_p.E413K|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000381584.1_Missense_Mutation_p.E397K|ZMYND11_ENST00000602682.1_Missense_Mutation_p.E329K|ZMYND11_ENST00000381602.4_Missense_Mutation_p.E374K|ZMYND11_ENST00000558098.2_Missense_Mutation_p.E414K			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	374	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACCAGAGCCTGAAACAGAAGC	0.448													51	129					0	0	0	0	A	294288	G	A	294288	3	1	38	1	0	0	0	0	1	0	0	0	17801	1291	45	2	1286	2	ZMYND11	10	294288	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08		294288	135240459	46	7374											
SFMBT2	57713	broad.mit.edu	37	chr10	7239538	7239538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagcacgcatttgcccGgtcccaccgactgaggtagc	9	6	11	15	3	0	1	0	1	0	0	1	3	1	1	4	2	4	3	4	2	2	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:7239538G>A	ENST00000361972.4	-	15	1760	c.1670C>T	c.(1669-1671)cCg>cTg	p.P557L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P557L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	557					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCATTTGCCCGGTCCCACCGA	0.478													25	90					0	0	0	0	A	7239538	G	A	7239538	3	1	38	1	0	0	0	0	1	0	0	0	14245	1116	39	1	1042	1	SFMBT2	10	7239538	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	6945250	7239538	128295209	47	7375											
CTNNA3	29119	broad.mit.edu	37	chr10	68280411	68280411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcatcaatgcttgtaatgtCatctacggcttcagtgagga	10	13	10	8	1	5	1	4	1	1	0	5	2	5	2	0	2	2	3	0	2	3	4			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:68280411C>T	ENST00000433211.1	-	11	1669	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D499N	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	499					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTTGTAATGTCATCTACGGCT	0.343													39	118					0	0	0	0	T	68280411	C	T	68280411	3	4	38	1	0	0	0	0	1	0	0	0	4046	826	29	2	1224	2	CTNNA3	10	68280411	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	61040873	68280411	67254336	48	7376											
USP54	159195	broad.mit.edu	37	chr10	75279642	75279642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgattgctgctgctgcatgCgatcctgcaggctccgtgct	4	12	13	12	2	0	1	0	1	0	0	2	2	2	1	2	1	7	7	2	1	0	1	rs143471997	by1000genomes	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:75279642C>T	ENST00000339859.4	-	18	2691	c.2591G>A	c.(2590-2592)cGc>cAc	p.R864H	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.R864H|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.R714H|USP54_ENST00000497106.1_Intron|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.R46H			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	864					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CTGCTGCATGCGATCCTGCAG	0.577													3	40					0	0	0	0	T	75279642	C	T	75279642	3	4	38	1	0	0	0	0	1	0	0	0	17181	768	27	1	2487	1	USP54	10	75279642	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	6999231	75279642	60255105	49	7377											
ATHL1	80162	broad.mit.edu	37	chr11	294141	294141	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaggcgctgtgaacttcCtgacaggcatggggggcttc	6	9	16	10	1	1	2	1	2	0	0	3	2	2	2	1	6	1	3	1	6	1	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:294141C>T	ENST00000409548.2	+	12	1868	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	ATHL1_ENST00000409479.1_Silent_p.L612L|ATHL1_ENST00000409655.1_Silent_p.L337L	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	585					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTGAACTTCCTGACAGGCAT	0.667													33	98					0	0	0	0	T	294141	C	T	294141	2	4	38	1	0	0	0	0	0	0	0	1	1108	680	24	4		4	ATHL1	11	294141	Silent	SNP	C	TCGA-BB-4224-01A-01D-1434-08		294141	134712375	50	7378											
AP2A2	161	broad.mit.edu	37	chr11	988626	988626	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaccgcagcaacgccccAcagatcgtggccgagatgct	9	5	12	15	5	0	2	0	0	0	2	1	4	0	2	4	1	4	3	4	1	1	0			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:988626A>T	ENST00000448903.2	+	10	1347	c.1206A>T	c.(1204-1206)ccA>ccT	p.P402P	AP2A2_ENST00000332231.5_Silent_p.P403P|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	402					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAACGCCCCACAGATCGTGG	0.607													43	112					0	0	0	0	T	988626	A	T	988626	2	4	38	1	0	0	0	0	0	0	0	1	741	146	6	5		5	AP2A2	11	988626	Silent	SNP	A	TCGA-BB-4224-01A-01D-1434-08	694485	988626	134017890	51	7379											
AMBRA1	55626	broad.mit.edu	37	chr11	46419246	46419246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctctgccagttgcccggcCtctgggagcagtccccgaga	5	7	13	16	3	2	1	0	0	2	1	3	3	3	2	5	2	3	3	5	2	0	1			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:46419246C>A	ENST00000458649.2	-	18	4069	c.3651G>T	c.(3649-3651)gaG>gaT	p.E1217D	AMBRA1_ENST00000314845.3_Missense_Mutation_p.E1127D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E1157D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E1188D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E1157D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E1098D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E1188D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1217					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTTGCCCGGCCTCTGGGAGCA	0.687													24	251					3.7963e-18	4.31398e-18	1	0	A	46419246	C	A	46419246	3	1	38	1	0	0	0	0	1	0	0	0	565	680	24	4	249	4	AMBRA1	11	46419246	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	45430620	46419246	88587270	52	7380											
LRP4	4038	broad.mit.edu	37	chr11	46898081	46898081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacaccaacactttccGcatggacccgtccaggttgc	8	8	8	17	2	0	0	0	0	0	0	2	1	2	1	5	2	3	2	5	2	1	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:46898081G>A	ENST00000378623.1	-	25	3714	c.3472C>T	c.(3472-3474)Cgg>Tgg	p.R1158W		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1158					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AACACTTTCCGCATGGACCCG	0.577													63	298					0	0	0	0	A	46898081	G	A	46898081	3	1	38	1	0	0	0	0	1	0	0	0	9023	1086	38	1	2301	1	LRP4	11	46898081	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	478835	46898081	88108435	53	7381											
BSCL2	26580	broad.mit.edu	37	chr11	62457910	62457910	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagctgcccagagtctctaGgacaggggcagaagcagaag	13	4	15	9	0	1	4	0	0	1	4	2	5	1	5	1	3	3	3	1	3	3	1			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:62457910G>A	ENST00000433053.1	-	12	1874	c.1318C>T	c.(1318-1320)Cta>Tta	p.L440L	BSCL2_ENST00000405837.1_Silent_p.L442L|BSCL2_ENST00000403550.1_Silent_p.L376L|BSCL2_ENST00000407022.3_Silent_p.L376L|BSCL2_ENST00000421906.1_Silent_p.L376L|BSCL2_ENST00000360796.5_Silent_p.L440L|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000278893.7_3'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	376					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AGAGTCTCTAGGACAGGGGCA	0.607													22	80					0	0	0	0	A	62457910	G	A	62457910	2	1	38	1	0	0	0	0	0	0	0	1	1535	991	35	4		4	BSCL2	11	62457910	Silent	SNP	G	TCGA-BB-4224-01A-01D-1434-08	15559829	62457910	72548606	54	7382											
ESRRA	2101	broad.mit.edu	37	chr11	64074712	64074712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcagagccggccagccctGacagtccaaagggttcctcg	9	5	13	14	2	0	2	0	1	0	1	3	2	2	2	5	3	2	2	5	3	1	1			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:64074712G>A	ENST00000405666.1	+	2	295	c.61G>A	c.(61-63)Gac>Aac	p.D21N	ESRRA_ENST00000406310.1_Missense_Mutation_p.D21N|ESRRA_ENST00000000442.6_Missense_Mutation_p.D21N			P11474	ERR1_HUMAN	estrogen-related receptor alpha	21	Repressor domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GGCCAGCCCTGACAGTCCAAA	0.642													21	55					0	0	0	0	A	64074712	G	A	64074712	3	1	38	1	0	0	0	0	1	0	0	0	5298	1290	45	2	63	2	ESRRA	11	64074712	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	1616802	64074712	70931804	55	7383											
NAALADL1	10004	broad.mit.edu	37	chr11	64825883	64825883	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atctccaggtccaggtcctgGggggccagtgagttggcttt	5	11	15	10	0	1	1	0	1	1	0	4	1	3	1	4	6	0	2	4	6	0	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:64825883G>T	ENST00000358658.3	-	1	138	c.111C>A	c.(109-111)ccC>ccA	p.P37P	NAALADL1_ENST00000355369.2_Silent_p.P37P|NAALADL1_ENST00000339885.2_Silent_p.P37P|NAALADL1_ENST00000355721.3_Silent_p.P37P|NAALADL1_ENST00000340252.4_Silent_p.P37P|NAALADL1_ENST00000356632.3_Silent_p.P37P	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	37					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CCAGGTCCTGGGGGGCCAGTG	0.642													3	58					1	1	1	0	T	64825883	G	T	64825883	2	4	38	1	0	0	0	0	0	0	0	1	10199	1219	43	4		4	NAALADL1	11	64825883	Silent	SNP	G	TCGA-BB-4224-01A-01D-1434-08	751171	64825883	70180633	56	7384											
IGHMBP2	3508	broad.mit.edu	37	chr11	68696768	68696768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccccctgctgaaggccaGaaagtgcatcctggcgggcg	8	6	14	13	2	0	2	0	1	0	1	2	3	2	2	4	3	2	2	4	3	2	0			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:68696768G>T	ENST00000255078.3	+	8	1289	c.1178G>T	c.(1177-1179)aGa>aTa	p.R393I		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	393	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGAAGGCCAGAAAGTGCATC	0.627													26	106					4.87955e-14	5.39774e-14	1	0	T	68696768	G	T	68696768	3	4	38	1	0	0	0	0	1	0	0	0	7644	942	33	2	1208	2	IGHMBP2	11	68696768	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	3870885	68696768	66309748	57	7385											
RSF1	51773	broad.mit.edu	37	chr11	77394814	77394814	+	Frame_Shift_Del	DEL	T	T	-																															tcaagcaagtttgctttggaTttttttgaatcttttttctt																										TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:77394814delT	ENST00000308488.6	-	11	3308	c.3006delA	c.(3004-3006)aafs	p.K1002fs	RSF1_ENST00000480887.1_Frame_Shift_Del_p.K750fs|RSF1_ENST00000360355.2_Frame_Shift_Del_p.K971fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1002					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTGCTTTGGATTTTTTTGAAT	0.323													28	88	---	---	---	---					-	77394814	T	-	77394814	7	5	38	1	0	1	0	1	0	0	0	0	13784	1490	52	0	1343	0	RSF1	11	77394814	Frame_Shift_Del	DEL	T	TCGA-BB-4224-01A-01D-1434-08	8698046	77394814	57611702	58	7386											
REXO2	25996	broad.mit.edu	37	chr11	114314649	114314649	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattggtgtaaggagcatcaCgggaaggtaacattaccaaa	15	8	12	6	1	1	0	1	0	0	0	1	3	1	2	1	4	3	3	1	4	5	4	rs151260750		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:114314649C>T	ENST00000265881.5	+	3	446	c.303C>T	c.(301-303)caC>caT	p.H101H	REXO2_ENST00000539754.1_Silent_p.H101H|RP11-212D19.4_ENST00000544347.1_3'UTR|REXO2_ENST00000539275.1_Intron	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	101	Exonuclease.				nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		AGGAGCATCACGGGAAGGTAA	0.458													4	9					0	0	0	0	T	114314649	C	T	114314649	2	4	38	1	0	0	0	0	0	0	0	1	13324	535	19	1		1	REXO2	11	114314649	Silent	SNP	C	TCGA-BB-4224-01A-01D-1434-08	36919835	114314649	20691867	59	7387											
TAS2R50	259296	broad.mit.edu	37	chr12	11138842	11138842	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatggagctgcatcttcttGagatgtttacacagagaaca	12	11	9	9	0	2	2	0	1	2	2	2	5	2	3	1	1	4	3	1	1	2	4			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:11138842G>C	ENST00000506868.1	-	1	669	c.618C>G	c.(616-618)ctC>ctG	p.L206L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	206					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						GCATCTTCTTGAGATGTTTAC	0.418													58	351					0	0	0	0	C	11138842	G	C	11138842	2	2	38	1	0	0	0	0	0	0	0	1	15675	1277	45	2		2	TAS2R50	12	11138842	Silent	SNP	G	TCGA-BB-4224-01A-01D-1434-08		11138842	122713053	60	7388											
C12orf60	144608	broad.mit.edu	37	chr12	14976229	14976229	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattcaaaagtgcccatacGccagtcatcatctctgtgct	10	12	7	12	1	4	0	3	0	1	0	5	0	4	0	2	0	3	2	2	0	4	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:14976229G>A	ENST00000330828.2	+	2	564	c.360G>A	c.(358-360)acG>acA	p.T120T	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	120										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GTGCCCATACGCCAGTCATCA	0.428													45	326					0	0	0	0	A	14976229	G	A	14976229	2	1	38	1	0	0	0	0	0	0	0	1	1715	1074	38	1		1	C12orf60	12	14976229	Silent	SNP	G	TCGA-BB-4224-01A-01D-1434-08	3837387	14976229	118875666	61	7389											
IRAK4	51135	broad.mit.edu	37	chr12	44177513	44177513	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtggatgaacaccgtGaacctcagttattggtaaat	12	11	10	8	1	1	2	1	2	0	0	1	3	1	3	2	2	3	3	2	2	5	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:44177513G>T	ENST00000431837.1	+	9	1110	c.802G>T	c.(802-804)Gaa>Taa	p.E268*	IRAK4_ENST00000448290.2_Nonsense_Mutation_p.E392*|IRAK4_ENST00000440781.2_Nonsense_Mutation_p.E268*|IRAK4_ENST00000551736.1_Nonsense_Mutation_p.E392*	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	392	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TGAACACCGTGAACCTCAGTT	0.303													12	20					0.000151284	0.000157588	1	0	T	44177513	G	T	44177513	4	4	38	1	0	0	0	0	0	1	0	0	7878	1291	45	2	1208	2	IRAK4	12	44177513	Nonsense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	29201284	44177513	89674382	62	7390											
GPR182	11318	broad.mit.edu	37	chr12	57389924	57389924	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcattgactgcttctccatgCtgcactgtgtcatcaacccc	7	13	6	15	0	4	1	3	1	1	0	5	1	4	1	3	0	4	3	3	0	1	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:57389924C>G	ENST00000300098.1	+	2	1150	c.931C>G	c.(931-933)Ctg>Gtg	p.L311V		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTTCTCCATGCTGCACTGTGT	0.542													10	415					0	0	0	0	G	57389924	C	G	57389924	3	3	38	1	0	0	0	0	1	0	0	0	6726	796	28	4	933	4	GPR182	12	57389924	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	13212411	57389924	76461971	63	7391											
CHST11	50515	broad.mit.edu	37	chr12	105150982	105150982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatggagatcccggccaacGaggcacacgtctccgccaac	10	4	10	17	4	1	1	0	0	1	1	3	3	2	1	5	3	2	1	5	3	2	0			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:105150982G>A	ENST00000303694.5	+	3	899	c.460G>A	c.(460-462)Gag>Aag	p.E154K	CHST11_ENST00000549260.1_Missense_Mutation_p.E149K	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	154					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CCCGGCCAACGAGGCACACGT	0.587													20	74					0	0	0	0	A	105150982	G	A	105150982	3	1	38	1	0	0	0	0	1	0	0	0	3428	1059	37	1	470	1	CHST11	12	105150982	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	47761058	105150982	28700913	64	7392											
CUX2	23316	broad.mit.edu	37	chr12	111744814	111744814	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgcggctgctgaaggaCgtgcagcacctccagagctc	8	7	12	14	2	0	2	0	1	0	1	3	3	2	3	3	2	5	5	3	2	1	0			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:111744814C>T	ENST00000261726.6	+	11	1102	c.948C>T	c.(946-948)gaC>gaT	p.D316D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	316						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGCTGAAGGACGTGCAGCACC	0.647													24	66					0	0	0	0	T	111744814	C	T	111744814	2	4	38	1	0	0	0	0	0	0	0	1	4097	535	19	1		1	CUX2	12	111744814	Silent	SNP	C	TCGA-BB-4224-01A-01D-1434-08	6593832	111744814	22107081	65	7393											
PCDH17	27253	broad.mit.edu	37	chr13	58208360	58208360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaaggactcgggggcgccCgcgcacttggagagcaacgc	8	4	16	13	5	0	1	0	0	0	1	1	3	0	2	1	4	2	3	1	4	2	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr13:58208360C>T	ENST00000377918.3	+	1	1706	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	560	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGGGGGCGCCCGCGCACTTGG	0.607													21	42					0	0	0	0	T	58208360	C	T	58208360	2	4	38	1	0	0	0	0	0	0	0	1	11583	639	23	1		1	PCDH17	13	58208360	Silent	SNP	C	TCGA-BB-4224-01A-01D-1434-08		58208360	56961518	66	7394											
HEATR4	399671	broad.mit.edu	37	chr14	73978743	73978743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggtggcaatccggggccGttccaaagcagctgtggcac	7	7	15	12	2	0	0	0	0	0	0	2	0	2	0	3	5	2	6	3	5	2	1	rs139427381	byFrequency	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr14:73978743G>A	ENST00000553558.1	-	7	1846	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W	HEATR4_ENST00000560393.1_Missense_Mutation_p.R462W|HEATR4_ENST00000334988.2_Missense_Mutation_p.R509W	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		ATCCGGGGCCGTTCCAAAGCA	0.517													30	126					0	0	0	0	A	73978743	G	A	73978743	3	1	38	1	0	0	0	0	1	0	0	0	7080	1144	40	1	1603	1	HEATR4	14	73978743	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08		73978743	33370797	67	7395											
DYNC1H1	1778	broad.mit.edu	37	chr14	102478730	102478730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtggatccagagtgggttGagaacttgaactcagtgctg	10	11	14	6	0	1	3	1	2	0	2	2	5	2	4	1	2	3	2	1	2	2	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr14:102478730G>A	ENST00000360184.4	+	34	7101	c.6937G>A	c.(6937-6939)Gag>Aag	p.E2313K		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2313	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAGTGGGTTGAGAACTTGAA	0.502													59	101					0	0	0	0	A	102478730	G	A	102478730	3	1	38	1	0	0	0	0	1	0	0	0	4877	1291	45	2	7071	2	DYNC1H1	14	102478730	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	28499987	102478730	4870810	68	7396											
DYNC1H1	1778	broad.mit.edu	37	chr14	102504839	102504839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaacccggtgctgaacCgtgaagtgcggcgaacaggg	9	8	15	9	4	0	3	0	3	0	0	0	4	0	3	2	3	5	1	2	3	4	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr14:102504839C>T	ENST00000360184.4	+	58	11115	c.10951C>T	c.(10951-10953)Cgt>Tgt	p.R3651C	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3651	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGTGCTGAACCGTGAAGTGCG	0.547													17	46					0	0	0	0	T	102504839	C	T	102504839	3	4	38	1	0	0	0	0	1	0	0	0	4877	652	23	1	11181	1	DYNC1H1	14	102504839	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	26109	102504839	4844701	69	7397											
SQRDL	58472	broad.mit.edu	37	chr15	45981253	45981253	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagtatgatggctacacatCatgtccactggtgaccggct	9	12	10	10	1	1	2	1	2	0	0	2	2	2	2	2	3	1	3	2	3	3	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr15:45981253C>G	ENST00000260324.7	+	9	1519	c.1133C>G	c.(1132-1134)tCa>tGa	p.S378*	SQRDL_ENST00000568606.1_Nonsense_Mutation_p.S378*	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	378							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GGCTACACATCATGTCCACTG	0.393													52	224					0	0	0	0	G	45981253	C	G	45981253	4	3	38	1	0	0	0	0	0	1	0	0	15219	838	29	2	1163	2	SQRDL	15	45981253	Nonsense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08		45981253	56550139	70	7398											
ATP8B4	79895	broad.mit.edu	37	chr15	50223420	50223420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttatggtctctggggtcCgggatttaaaaatgaaccca	10	13	11	7	1	1	1	0	1	1	0	3	2	2	2	2	4	1	1	2	4	5	4			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr15:50223420C>T	ENST00000284509.6	-	16	1679	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	513					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCTGGGGTCCGGGATTTAAA	0.398													41	98					0	0	0	0	T	50223420	C	T	50223420	3	4	38	1	0	0	0	0	1	0	0	0	1201	652	23	1	2092	1	ATP8B4	15	50223420	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	4242167	50223420	52307972	71	7399											
AKAP13	11214	broad.mit.edu	37	chr15	86283474	86283474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggttgtccagagcgttgttCatctctacgagctcctcagc	7	12	10	12	2	3	1	2	0	1	1	6	2	5	1	2	1	4	4	2	1	1	4			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr15:86283474C>T	ENST00000394518.2	+	34	7674	c.7579C>T	c.(7579-7581)Cat>Tat	p.H2527Y	AKAP13_ENST00000361243.2_Missense_Mutation_p.H2531Y|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.H772Y	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2527	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGCGTTGTTCATCTCTACGA	0.468													23	68					0	0	0	0	T	86283474	C	T	86283474	3	4	38	1	0	0	0	0	1	0	0	0	449	826	29	2	7779	2	AKAP13	15	86283474	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	36060054	86283474	16247918	72	7400											
PDXDC1	23042	broad.mit.edu	37	chr16	15103580	15103580	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattaaagatgatatagagCgaggaagactgcccctgttg	13	10	12	6	1	0	5	0	2	0	3	0	7	0	6	2	1	2	1	2	1	5	4			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:15103580C>G	ENST00000396410.4	+	8	788	c.691C>G	c.(691-693)Cga>Gga	p.R231G	PDXDC1_ENST00000447912.2_Missense_Mutation_p.R140G|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R231G|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R204G|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R208G|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R203G|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R216G|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R249G	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	231					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TGATATAGAGCGAGGAAGACT	0.418													42	163					0	0	0	0	G	15103580	C	G	15103580	3	3	38	1	0	0	0	0	1	0	0	0	11767	760	27	3	721	3	PDXDC1	16	15103580	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08		15103580	75251173	73	7401											
ARHGAP17	55114	broad.mit.edu	37	chr16	24988544	24988544	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatactcacgtgtctccTctcggcatcggtgccatgct	5	13	9	14	3	4	1	1	1	3	0	7	1	4	1	2	2	3	2	2	2	1	1			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:24988544T>G	ENST00000289968.6	-	3	259	c.190A>C	c.(190-192)Agg>Cgg	p.R64R	ARHGAP17_ENST00000441763.2_Silent_p.R64R|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Silent_p.R64R	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	64	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACGTGTCTCCTCTCGGCATCG	0.547													38	42					0	0	0	0	G	24988544	T	G	24988544	2	3	38	1	0	0	0	0	0	0	0	1	869	1550	54	5		5	ARHGAP17	16	24988544	Silent	SNP	T	TCGA-BB-4224-01A-01D-1434-08	9884964	24988544	65366209	74	7402											
SRCAP	10847	broad.mit.edu	37	chr16	30736322	30736322	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgcgctctggtccccccagCcctccctccactgctacctc	3	10	6	22	1	1	0	0	0	1	0	5	0	4	0	7	1	4	2	7	1	1	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:30736322C>T	ENST00000262518.4	+	25	5962	c.5577C>T	c.(5575-5577)agC>agT	p.S1859S	SRCAP_ENST00000344771.4_Silent_p.S1701S|SRCAP_ENST00000395059.2_Silent_p.S1797S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1859	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTCCCCCCAGCCCTCCCTCCA	0.612													125	132					0	0	0	0	T	30736322	C	T	30736322	2	4	38	1	0	0	0	0	0	0	0	1	15225	738	26	4		4	SRCAP	16	30736322	Silent	SNP	C	TCGA-BB-4224-01A-01D-1434-08	5747778	30736322	59618431	75	7403											
ADAMTS18	170692	broad.mit.edu	37	chr16	77465453	77465453	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgttgtgcaaaatgtcGtgtgaaatatatgacccggc	10	11	11	9	3	0	2	0	2	0	0	1	2	0	2	2	1	2	2	2	1	5	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:77465453G>A	ENST00000282849.5	-	3	652	c.234C>T	c.(232-234)caC>caT	p.H78H	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	78					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCAAAATGTCGTGTGAAATAT	0.488													101	418					0	0	0	0	A	77465453	G	A	77465453	2	1	38	1	0	0	0	0	0	0	0	1	263	1136	40	1		1	ADAMTS18	16	77465453	Silent	SNP	G	TCGA-BB-4224-01A-01D-1434-08	46729131	77465453	12889300	76	7404											
PKD1L2	114780	broad.mit.edu	37	chr16	81142864	81142864	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcatcaaagagggtttTgtaggaacggagtttccaac	11	9	12	9	3	1	1	1	0	0	1	2	3	2	3	2	3	2	4	2	3	4	4			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:81142864T>C	ENST00000525539.1	-	0	7019				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAGGGTTTTGTAGGAACGG	0.507													3	19					0	0	0	0	C	81142864	T	C	81142864	1	2	38	0	1	0	0	0	0	0	0	0	12037	1821	63	5		5	PKD1L2	16	81142864	RNA	SNP	T	TCGA-BB-4224-01A-01D-1434-08	3677411	81142864	9211889	77	7405											
NLGN2	57555	broad.mit.edu	37	chr17	7320707	7320707	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctttgctgccctctactaCaagcgggaccggcggcagga	7	7	13	14	3	1	0	0	0	1	0	1	2	1	2	3	4	5	2	3	4	3	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:7320707C>A	ENST00000302926.2	+	7	2170	c.2097C>A	c.(2095-2097)taC>taA	p.Y699*	NLGN2_ENST00000575301.1_Nonsense_Mutation_p.Y699*	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	699					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CCCTCTACTACAAGCGGGACC	0.711													3	22					0.0215528	0.0219032	1	0	A	7320707	C	A	7320707	4	1	38	1	0	0	0	0	0	1	0	0	10532	489	17	4	2123	4	NLGN2	17	7320707	Nonsense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08		7320707	73874503	78	7406											
TP53	7157	broad.mit.edu	37	chr17	7578192	7578193	+	Frame_Shift_Del	DEL	GG	GG	-																															cagacctcaggcggctcataGggcaccaccacactatgtcg																										TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:7578192_7578193delGG	ENST00000420246.2	-	6	788_789	c.656_657delCC	c.(655-657)cfs	p.P219fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.P219fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P219fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P219fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P219fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.P219fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	219	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> C (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(8)|p.P219P(4)|p.P219L(3)|p.D208fs*1(1)|p.V216fs*28(1)|p.Y220_P223delYEPP(1)|p.V218fs*26(1)|p.P219R(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.P219C(1)|p.V216_Y220delVVVPY(1)|p.P219H(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGGCTCATAGGGCACCACCAC	0.545		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	22	---	---	---	---					-	7578193	GG	-	7578192	7	5	38	1	0	1	0	1	0	0	0	0	16476	987	35	0	637	0	TP53	17	7578192	Frame_Shift_Del	DEL	GG	TCGA-BB-4224-01A-01D-1434-08	257485	7578192	73617018	79	7407											
TP53	7157	broad.mit.edu	37	chr17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaatcaacccacagctGcacagggcaggtcttggcca	10	7	12	12	0	2	0	1	0	1	0	2	1	2	1	2	4	3	3	2	4	2	1			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:7578500G>A	ENST00000420246.2	-	5	562	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	144	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCCACAGCTGCACAGGGCAG	0.597		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	62					0	0	0	0	A	7578500	G	A	7578500	4	1	38	1	0	0	0	0	0	1	0	0	16476	1328	46	4	868	4	TP53	17	7578500	Nonsense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	308	7578500	73616710	80	7408											
ATAD5	79915	broad.mit.edu	37	chr17	29161578	29161578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtagtacttctgttttacGttacaagaaacaagtagagg	15	12	9	5	1	1	2	0	0	1	2	1	2	1	2	0	1	4	5	0	1	9	7			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:29161578G>A	ENST00000321990.4	+	2	857	c.479G>A	c.(478-480)cGt>cAt	p.R160H	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	160					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTGTTTTACGTTACAAGAAA	0.313													69	199					0	0	0	0	A	29161578	G	A	29161578	3	1	38	1	0	0	0	0	1	0	0	0	1080	1145	40	1	485	1	ATAD5	17	29161578	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	21583078	29161578	52033632	81	7409											
AP2B1	163	broad.mit.edu	37	chr17	33963460	33963460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatcagggacatcttccGcaaataccccaacaagtatg	13	9	7	12	1	3	0	2	0	1	0	4	1	4	1	3	1	2	2	3	1	5	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:33963460G>A	ENST00000262325.7	+	10	1809	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	AP2B1_ENST00000589344.1_Missense_Mutation_p.R419H|AP2B1_ENST00000538556.1_Missense_Mutation_p.R362H|AP2B1_ENST00000312678.8_Missense_Mutation_p.R419H|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.R419H|AP2B1_ENST00000592545.1_Missense_Mutation_p.R381H	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	419					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GACATCTTCCGCAAATACCCC	0.398													9	30					0	0	0	0	A	33963460	G	A	33963460	3	1	38	1	0	0	0	0	1	0	0	0	742	1087	38	1	1290	1	AP2B1	17	33963460	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	4801882	33963460	47231750	82	7410											
DDX52	11056	broad.mit.edu	37	chr17	36002269	36002269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacacacctgggacagacttCttgtttccaaaaaagtccag	13	9	7	12	0	1	1	0	0	1	1	3	2	3	2	3	1	0	1	3	1	3	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:36002269C>G	ENST00000349699.2	-	2	199	c.156G>C	c.(154-156)aaG>aaC	p.K52N	DDX52_ENST00000394367.3_5'UTR	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	52						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GGACAGACTTCTTGTTTCCAA	0.413													29	82					0	0	0	0	G	36002269	C	G	36002269	3	3	38	1	0	0	0	0	1	0	0	0	4402	912	32	2	1699	2	DDX52	17	36002269	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	2038809	36002269	45192941	83	7411											
TTC25	83538	broad.mit.edu	37	chr17	40101509	40101509	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaattgcctcttccccacctCcatggttagaacttctcacc	8	12	5	16	0	2	1	1	0	2	1	5	2	4	1	6	1	2	1	6	1	3	4			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:40101509C>G	ENST00000591658.1	+	0	1213							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TTCCCCACCTCCATGGTTAGA	0.438													2	6					0	0	0	0	G	40101509	C	G	40101509	1	3	38	0	1	0	0	0	0	0	0	0	16789	870	30	2		2	TTC25	17	40101509	RNA	SNP	C	TCGA-BB-4224-01A-01D-1434-08	4099240	40101509	41093701	84	7412											
UNK	85451	broad.mit.edu	37	chr17	73809222	73809222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccccgcggctgtgccGccaaggctatgcctgtccct	5	7	12	17	3	0	0	0	0	0	0	1	1	1	0	6	2	3	2	6	2	3	1			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:73809222G>A	ENST00000293218.3	+	6	914	c.914G>A	c.(913-915)cGc>cAc	p.R305H	UNK_ENST00000589666.1_Missense_Mutation_p.R229H			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	229							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGCTGTGCCGCCAAGGCTAT	0.637													6	7					0	0	0	0	A	73809222	G	A	73809222	3	1	38	1	0	0	0	0	1	0	0	0	17096	1087	38	1	936	1	UNK	17	73809222	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08	33707713	73809222	7385988	85	7413											
MAPK4	5596	broad.mit.edu	37	chr18	48190823	48190823	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagaggacctcgtgctcaaGattggggatttcgggttggc	8	10	15	8	2	1	2	1	0	0	2	3	4	1	4	1	5	1	2	1	5	1	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr18:48190823G>C	ENST00000400384.2	+	2	1531	c.495G>C	c.(493-495)aaG>aaC	p.K165N	MAPK4_ENST00000592595.1_Missense_Mutation_p.K165N|MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.K165N	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	165	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TCGTGCTCAAGATTGGGGATT	0.562													69	30					0	0	0	0	C	48190823	G	C	48190823	3	2	38	1	0	0	0	0	1	0	0	0	9349	933	33	2	497	2	MAPK4	18	48190823	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08		48190823	29886425	86	7414											
MUC16	94025	broad.mit.edu	37	chr19	9085379	9085379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagttatggccattggaaGagggacttcagagctgatac	13	9	13	6	0	1	4	1	1	0	3	1	6	1	6	1	3	2	2	1	3	4	4			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr19:9085379G>T	ENST00000397910.4	-	1	6639	c.6436C>A	c.(6436-6438)Ctt>Att	p.L2146I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2146	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L2146V(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCATTGGAAGAGGGACTTCA	0.498													30	94					1.2476e-16	1.39241e-16	1	0	T	9085379	G	T	9085379	3	4	38	1	0	0	0	0	1	0	0	0	10043	942	33	2	37423	2	MUC16	19	9085379	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08		9085379	50043604	87	7415											
C19orf57	79173	broad.mit.edu	37	chr19	14001123	14001123	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatccccactgccgggcacCgcctgcacagggctctggct	6	6	12	17	2	1	0	0	0	1	0	2	1	2	0	5	3	2	4	5	3	1	0			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr19:14001123C>T	ENST00000454313.1	-	6	604	c.546G>A	c.(544-546)gcG>gcA	p.A182A	C19orf57_ENST00000586783.1_Silent_p.A182A|C19orf57_ENST00000346736.2_Silent_p.A182A|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	182					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGCCGGGCACCGCCTGCACAG	0.682													51	102					0	0	0	0	T	14001123	C	T	14001123	2	4	38	1	0	0	0	0	0	0	0	1	1957	639	23	1		1	C19orf57	19	14001123	Silent	SNP	C	TCGA-BB-4224-01A-01D-1434-08	4915744	14001123	45127860	88	7416											
SIRPG	55423	broad.mit.edu	37	chr20	1638344	1638344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaccaggaggatggggccagGaggctgggacaggcattttg	9	6	19	7	0	0	0	0	0	0	0	0	5	0	4	2	8	0	2	2	8	0	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr20:1638344G>A	ENST00000303415.3	-	1	81	c.17C>T	c.(16-18)tCc>tTc	p.S6F	SIRPG_ENST00000216927.4_Missense_Mutation_p.S6F|SIRPG_ENST00000381583.2_Missense_Mutation_p.S6F|SIRPG_ENST00000344103.4_Missense_Mutation_p.S6F	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	6					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ATGGGGCCAGGAGGCTGGGAC	0.557													34	157					0	0	0	0	A	1638344	G	A	1638344	3	1	38	1	0	0	0	0	1	0	0	0	14424	1174	41	2	1166	2	SIRPG	20	1638344	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08		1638344	61387176	89	7417											
INSM1	3642	broad.mit.edu	37	chr20	20349259	20349259	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacgagaagcacaagtacttCgaacgcagcttcaacctggg	13	6	10	12	3	1	1	1	0	0	1	2	3	1	1	1	1	5	4	1	1	5	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr20:20349259C>G	ENST00000310227.1	+	1	495	c.348C>G	c.(346-348)ttC>ttG	p.F116L		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	116	Ala/Gly/Pro-rich.				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		ACAAGTACTTCGAACGCAGCT	0.751													7	10					0	0	0	0	G	20349259	C	G	20349259	3	3	38	1	0	0	0	0	1	0	0	0	7824	883	31	3	350	3	INSM1	20	20349259	Missense_Mutation	SNP	C	TCGA-BB-4224-01A-01D-1434-08	18710915	20349259	42676261	90	7418											
CACNA1I	8911	broad.mit.edu	37	chr22	39996588	39996588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctcaagatggtggccctgGggatttttggcaagaagtgc	8	11	15	7	0	1	2	1	0	0	2	1	3	1	3	1	5	2	2	1	5	3	2			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr22:39996588G>T	ENST00000336649.4	+	5	412	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W	CACNA1I_ENST00000402142.3_Missense_Mutation_p.G138W|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G138W|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G138W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G138W|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G138W			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	138					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.G138R(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGTGGCCCTGGGGATTTTTGG	0.562													15	15					7.93312e-07	8.40373e-07	1	0	T	39996588	G	T	39996588	3	4	38	1	0	0	0	0	1	0	0	0	2571	1232	43	4	422	4	CACNA1I	22	39996588	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08		39996588	11307978	91	7419											
PAGE2	203569	broad.mit.edu	37	chrX	55117016	55117016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcacctagtggggagattGaaaatcaagcagtgcctgct	11	10	12	8	0	1	2	1	1	0	1	1	3	1	2	2	2	4	3	2	2	4	3			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chrX:55117016G>A	ENST00000374968.4	+	3	270	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	PAGE2_ENST00000374965.1_Intron	NM_207339.2	NP_997222.1			P antigen family, member 2 (prostate associated)											endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						TGGGGAGATTGAAAATCAAGC	0.443													9	11					0	0	0	0	A	55117016	G	A	55117016	3	1	38	1	0	0	0	0	1	0	0	0	11461	1291	45	2	172	2	PAGE2	23	55117016	Missense_Mutation	SNP	G	TCGA-BB-4224-01A-01D-1434-08		55117016	100153544	92	7420											
ASAP3	55616	broad.mit.edu	37	chr1	23759729	23759729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgtccagcctcccactggCccagtgagcctgggccggga	6	6	14	15	1	0	1	0	1	0	0	2	3	2	2	6	3	2	0	6	3	0	0			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:23759729C>T	ENST00000336689.3	-	22	2208	c.2164G>A	c.(2164-2166)Gcc>Acc	p.A722T	ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Missense_Mutation_p.A713T|ASAP3_ENST00000495646.1_Missense_Mutation_p.A226T	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	722					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CTCCCACTGGCCCAGTGAGCC	0.642													39	148					0	0	0	0	T	23759729	C	T	23759729	3	4	39	1	0	0	0	0	1	0	0	0	1016	739	26	4	563	4	ASAP3	1	23759729	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08		23759729	225490892	1	7421											
ASAP3	55616	broad.mit.edu	37	chr1	23763755	23763755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccgggccagcgctgggctCcccgaggaaggcgctgctca	5	4	15	17	4	1	0	1	0	0	0	2	2	2	1	5	4	2	4	5	4	1	0			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:23763755C>T	ENST00000336689.3	-	14	1254	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Missense_Mutation_p.E395K	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	404					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GCGCTGGGCTCCCCGAGGAAG	0.662													5	15					0	0	0	0	T	23763755	C	T	23763755	3	4	39	1	0	0	0	0	1	0	0	0	1016	864	30	2	1549	2	ASAP3	1	23763755	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	4026	23763755	225486866	2	7422											
HECTD3	79654	broad.mit.edu	37	chr1	45475780	45475780	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcactcgtaggtccatgTcgggggtacatagctaagca	9	9	13	10	3	0	0	0	0	0	0	4	0	1	0	1	3	3	5	1	3	4	4			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:45475780T>C	ENST00000372172.4	-	4	708	c.637A>G	c.(637-639)Aca>Gca	p.T213A		NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	213					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TAGGTCCATGTCGGGGGTACA	0.567													21	85					0	0	0	0	C	45475780	T	C	45475780	3	2	39	1	0	0	0	0	1	0	0	0	7091	1667	58	5	2020	5	HECTD3	1	45475780	Missense_Mutation	SNP	T	TCGA-BB-4225-01A-01D-1434-08	21712025	45475780	203774841	3	7423											
CCDC17	149483	broad.mit.edu	37	chr1	46087966	46087966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagatttctgcctccaagCgccggttttcagcctccact	7	11	7	16	2	2	1	1	0	1	1	4	1	4	1	6	1	3	1	6	1	2	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:46087966C>T	ENST00000421127.2	-	7	1030	c.887G>A	c.(886-888)cGc>cAc	p.R296H	CCDC17_ENST00000464739.1_Intron|CCDC17_ENST00000343901.2_Missense_Mutation_p.R273H|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000528266.1_Missense_Mutation_p.R305H	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	305										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TGCCTCCAAGCGCCGGTTTTC	0.582													10	25					0	0	0	0	T	46087966	C	T	46087966	3	4	39	1	0	0	0	0	1	0	0	0	2819	768	27	1	982	1	CCDC17	1	46087966	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	612186	46087966	203162655	4	7424											
RBM15	64783	broad.mit.edu	37	chr1	110882129	110882129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcggcgggttactcagctCcgcggagacgacctccgacg	6	5	16	14	7	1	1	1	0	0	1	3	4	3	1	3	4	2	2	3	4	1	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:110882129C>T	ENST00000369784.3	+	1	1002	c.102C>T	c.(100-102)ctC>ctT	p.L34L	RBM15_ENST00000602849.1_Silent_p.L34L|RBM15_ENST00000487146.2_Silent_p.L34L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	34					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTACTCAGCTCCGCGGAGACG	0.677			T	MKL1	acute megakaryocytic leukemia								14	36					0	0	0	0	T	110882129	C	T	110882129	2	4	39	1	0	0	0	0	0	0	0	1	13198	842	30	2		2	RBM15	1	110882129	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08	64794163	110882129	138368492	5	7425											
MAGI3	260425	broad.mit.edu	37	chr1	114092242	114092242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagataatctctacttgaGaaccattccatgtaagtatg	14	12	7	8	0	1	2	0	1	1	2	3	4	2	2	2	0	2	2	2	0	5	6			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:114092242G>A	ENST00000369615.1	+	2	484	c.422G>A	c.(421-423)aGa>aAa	p.R141K	MAGI3_ENST00000369617.4_Missense_Mutation_p.R141K|MAGI3_ENST00000307546.9_Missense_Mutation_p.R141K|MAGI3_ENST00000369611.4_Missense_Mutation_p.R141K|MAGI3_ENST00000486456.1_3'UTR	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	141	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTACTTGAGAACCATTCCA	0.338													4	78					0	0	0	0	A	114092242	G	A	114092242	3	1	39	1	0	0	0	0	1	0	0	0	9261	942	33	2	428	2	MAGI3	1	114092242	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08	3210113	114092242	135158379	6	7426											
ANKRD34A	284615	broad.mit.edu	37	chr1	145473666	145473666	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgagatcacgcgggcgcctCggctcttgtccacgccctgg	4	7	13	17	6	2	1	1	0	1	1	4	2	3	1	4	3	0	1	4	3	0	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:145473666C>G	ENST00000323397.4	+	4	1631	c.338C>G	c.(337-339)tCg>tGg	p.S113W		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	113										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGGGCGCCTCGGCTCTTGTC	0.711													15	42					0	0	0	0	G	145473666	C	G	145473666	3	3	39	1	0	0	0	0	1	0	0	0	661	893	31	3	340	3	ANKRD34A	1	145473666	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	31381424	145473666	103776955	7	7427											
CRNN	49860	broad.mit.edu	37	chr1	152382225	152382225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgtctcccttgagtggtCatcaacccattcctcaccaa	9	11	5	16	0	4	1	3	1	1	0	6	1	5	1	4	1	1	0	4	1	2	2			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:152382225C>T	ENST00000271835.3	-	3	1395	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	445					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGAGTGGTCATCAACCCAT	0.577													25	87					0	0	0	0	T	152382225	C	T	152382225	3	4	39	1	0	0	0	0	1	0	0	0	3922	826	29	2	158	2	CRNN	1	152382225	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	6908559	152382225	96868396	8	7428											
CD1A	909	broad.mit.edu	37	chr1	158226066	158226066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaaaggcacatctccagCggcaaggtcagtcctgcact	11	6	11	13	1	2	0	1	0	1	0	4	1	3	1	2	4	2	3	2	4	2	0			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:158226066C>T	ENST00000289429.5	+	3	1131	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	200	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCTCCAGCGGCAAGGTCA	0.463													8	123					0	0	0	0	T	158226066	C	T	158226066	3	4	39	1	0	0	0	0	1	0	0	0	3003	759	27	1	608	1	CD1A	1	158226066	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	5843841	158226066	91024555	9	7429											
FCRLB	127943	broad.mit.edu	37	chr1	161692465	161692465	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagtcagatccatcatGtggccactgacagcccttct	8	10	9	14	0	3	2	2	1	1	1	4	2	4	2	3	1	2	2	3	1	0	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:161692465G>A	ENST00000367948.2	+	3	218	c.3G>A	c.(1-3)atG>atA	p.M1I	FCRLB_ENST00000367946.3_Start_Codon_SNP_p.M1I|FCRLB_ENST00000367944.3_Start_Codon_SNP_p.M1I|FCRLB_ENST00000367945.1_Start_Codon_SNP_p.M1I|FCRLB_ENST00000336830.5_Start_Codon_SNP_p.M1I|FCRLB_ENST00000392158.1_Start_Codon_SNP_p.M1I			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	1						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GATCCATCATGTGGCCACTGA	0.557													84	250					0	0	0	0	A	161692465	G	A	161692465	1	1	39	1	0	0	0	0	0	0	0	0	5846	1377	48	4		4	FCRLB	1	161692465	Translation_Start_Site	SNP	G	TCGA-BB-4225-01A-01D-1434-08	3466399	161692465	87558156	10	7430											
KIF21B	23046	broad.mit.edu	37	chr1	200950187	200950187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgcagtggggccgtccGtgcacccttggctcctccaa	6	8	11	16	2	0	0	0	0	0	0	3	0	3	0	5	3	2	3	5	3	1	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:200950187G>A	ENST00000332129.2	-	28	4157	c.3841C>T	c.(3841-3843)Cgg>Tgg	p.R1281W	KIF21B_ENST00000422435.2_Missense_Mutation_p.R1294W|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1294W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1281W	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1294					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGGGCCGTCCGTGCACCCTTG	0.622													52	64					0	0	0	0	A	200950187	G	A	200950187	3	1	39	1	0	0	0	0	1	0	0	0	8340	1144	40	1	1061	1	KIF21B	1	200950187	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08	39257722	200950187	48300434	11	7431											
GPATCH2	55105	broad.mit.edu	37	chr1	217665079	217665079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctttcagctcgattatctCtcagaagctgatgctacaca	10	13	6	12	1	4	2	2	1	2	1	6	3	4	2	0	0	4	3	0	0	3	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:217665079C>T	ENST00000366935.3	-	8	1330	c.1220G>A	c.(1219-1221)aGa>aAa	p.R407K	GPATCH2_ENST00000489246.2_5'UTR	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	407						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCGATTATCTCTCAGAAGCTG	0.313													16	84					0	0	0	0	T	217665079	C	T	217665079	3	4	39	1	0	0	0	0	1	0	0	0	6640	913	32	2	378	2	GPATCH2	1	217665079	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	16714892	217665079	31585542	12	7432											
PCNXL2	80003	broad.mit.edu	37	chr1	233270852	233270852	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaagatgacagtgaagctCaagttaataaactggtaaac	20	8	8	5	0	1	3	1	2	0	1	1	3	1	3	0	1	3	3	0	1	9	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:233270852C>T	ENST00000258229.8	-	21	3978	c.3744G>A	c.(3742-3744)ttG>ttA	p.L1248L	PCNXL2_ENST00000488780.2_Silent_p.L381L|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1248						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CAGTGAAGCTCAAGTTAATAA	0.398													13	50					0	0	0	0	T	233270852	C	T	233270852	2	4	39	1	0	0	0	0	0	0	0	1	11663	825	29	2		2	PCNXL2	1	233270852	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08	15605773	233270852	15979769	13	7433											
RYR2	6262	broad.mit.edu	37	chr1	237895442	237895442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagtcggacagctttaacaGagaaatggtatggttgggag	12	11	14	4	1	0	1	0	0	0	1	1	4	0	3	0	4	2	3	0	4	4	5			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr1:237895442G>A	ENST00000366574.2	+	78	11349	c.11032G>A	c.(11032-11034)Gag>Aag	p.E3678K	RYR2_ENST00000360064.6_Missense_Mutation_p.E3676K|RYR2_ENST00000542537.1_Missense_Mutation_p.E3662K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3678					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E3676*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCTTTAACAGAGAAATGGTA	0.453													11	74					0	0	0	0	A	237895442	G	A	237895442	3	1	39	1	0	0	0	0	1	0	0	0	13854	943	33	2	11342	2	RYR2	1	237895442	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08	4624590	237895442	11355179	14	7434											
ACOXL	55289	broad.mit.edu	37	chr2	111666365	111666365	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgttgattccctctaGccggaggcagtttgggccca	5	12	13	11	1	2	1	0	1	2	0	3	2	3	2	3	3	1	3	3	3	1	4	rs2974746		TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr2:111666365G>A	ENST00000389811.4	+	11	1012		c.e11-1		ACOXL_ENST00000439055.1_Splice_Site			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like						fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATTCCCTCTAGCCGGAGGCAG	0.522													23	79					0	0	0	0	A	111666365	G	A	111666365	5	1	39	1	0	0	0	0	0	0	1	0	161	985	34	4	826	4	ACOXL	2	111666365	Splice_Site	SNP	G	TCGA-BB-4225-01A-01D-1434-08		111666365	131533008	15	7435											
ANAPC1	64682	broad.mit.edu	37	chr2	112621447	112621447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggttcccccctgttcaGagaactttaaaacaacattc	11	11	8	11	0	1	1	1	0	0	1	3	2	2	1	3	2	3	2	3	2	4	5			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr2:112621447G>T	ENST00000341068.3	-	9	1629	c.857C>A	c.(856-858)tCt>tAt	p.S286Y		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	286					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCCCTGTTCAGAGAACTTTAA	0.398													3	30					0.115264	0.125375	1	0	T	112621447	G	T	112621447	3	4	39	1	0	0	0	0	1	0	0	0	598	942	33	2	5137	2	ANAPC1	2	112621447	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08	955082	112621447	130577926	16	7436											
TTN	7273	broad.mit.edu	37	chr2	179582457	179582457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggttctgagccattgatgcGgcattcaaatgcaactggga	11	10	12	8	1	2	2	1	2	1	0	2	3	2	3	1	3	4	3	1	3	2	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr2:179582457G>A	ENST00000589042.1	-	87	25368	c.25144C>T	c.(25144-25146)Cgc>Tgc	p.R8382C	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R8065C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R7138C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8065	Ig-like 66.						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)			CCATTGATGCGGCATTCAAAT	0.413													6	46					0	0	0	0	A	179582457	G	A	179582457	3	1	39	1	0	0	0	0	1	0	0	0	16831	1116	39	1	79489	1	TTN	2	179582457	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08	66961010	179582457	63616916	17	7437											
ATG16L1	55054	broad.mit.edu	37	chr2	234171780	234171780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgccaatttagtcccGgacatgatggcacatggaat	10	12	11	8	1	0	1	0	1	0	0	1	3	1	3	2	4	1	2	2	4	3	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr2:234171780G>A	ENST00000392017.4	+	3	471	c.214G>A	c.(214-216)Gga>Aga	p.G72R	ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000392018.1_Missense_Mutation_p.G72R|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392020.4_Missense_Mutation_p.G72R	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	72					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		ATTTAGTCCCGGACATGATGG	0.438													7	31					0	0	0	0	A	234171780	G	A	234171780	3	1	39	1	0	0	0	0	1	0	0	0	1095	1117	39	1	224	1	ATG16L1	2	234171780	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08	54589323	234171780	9027593	18	7438											
SCN5A	6331	broad.mit.edu	37	chr3	38647495	38647495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggaagcgcttttccttctCctcggtctcagcgatggtgg	4	13	12	12	3	2	0	1	0	2	0	6	2	3	1	2	4	2	1	2	4	1	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr3:38647495C>T	ENST00000413689.1	-	10	1478	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	SCN5A_ENST00000451551.2_Missense_Mutation_p.E429K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E429K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E429K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E429K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E429K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E429K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E429K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E429K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E429K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	429					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTTTCCTTCTCCTCGGTCTCA	0.567													4	143					0	0	0	0	T	38647495	C	T	38647495	3	4	39	1	0	0	0	0	1	0	0	0	14009	864	30	2	4841	2	SCN5A	3	38647495	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08		38647495	159374935	19	7439											
GHSR	2693	broad.mit.edu	37	chr3	172165615	172165615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaactcggtggggcggcactCgttggtgtcccaagggtcgg	6	8	17	10	4	0	0	0	0	0	0	4	0	1	0	1	7	1	2	1	7	2	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr3:172165615C>T	ENST00000241256.2	-	1	631	c.589G>A	c.(589-591)Gag>Aag	p.E197K	GHSR_ENST00000427970.1_Missense_Mutation_p.E197K	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	197					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GGGCGGCACTCGTTGGTGTCC	0.622													17	76					0	0	0	0	T	172165615	C	T	172165615	3	4	39	1	0	0	0	0	1	0	0	0	6426	893	31	1	593	1	GHSR	3	172165615	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	133518120	172165615	25856815	20	7440											
WDR53	348793	broad.mit.edu	37	chr3	196288329	196288329	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggagaagaatgcccaccCgtccacttgactgccataat	13	7	8	13	1	0	3	0	1	0	2	1	4	1	3	4	1	2	0	4	1	3	2			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr3:196288329C>T	ENST00000332629.5	-	3	585	c.18G>A	c.(16-18)acG>acA	p.T6T	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	6										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		AATGCCCACCCGTCCACTTGA	0.522													15	89					0	0	0	0	T	196288329	C	T	196288329	2	4	39	1	0	0	0	0	0	0	0	1	17401	639	23	1		1	WDR53	3	196288329	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08	24122714	196288329	1734101	21	7441											
BMP2K	55589	broad.mit.edu	37	chr4	79792071	79792071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaactccatttacagcatCgtcatcctcaccagcagcag	12	8	6	15	1	2	0	2	0	0	0	5	0	4	0	3	0	6	4	3	0	2	2			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr4:79792071C>T	ENST00000335016.5	+	11	1532	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C	BMP2K_ENST00000502871.1_Missense_Mutation_p.R456C	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	456	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TTTACAGCATCGTCATCCTCA	0.567													4	35					0	0	0	0	T	79792071	C	T	79792071	3	4	39	1	0	0	0	0	1	0	0	0	1465	884	31	1	1408	1	BMP2K	4	79792071	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08		79792071	111362205	22	7442											
PRR16	51334	broad.mit.edu	37	chr5	120021719	120021719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgactgacagctccaaaaCggacacgctgaatagtagct	14	7	10	10	2	0	3	0	3	0	0	1	5	1	4	1	1	3	4	1	1	5	2			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:120021719C>T	ENST00000379551.2	+	3	518	c.161C>T	c.(160-162)aCg>aTg	p.T54M	PRR16_ENST00000505123.1_Missense_Mutation_p.T7M|PRR16_ENST00000446965.1_Missense_Mutation_p.T7M|PRR16_ENST00000407149.2_Missense_Mutation_p.T77M	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	77								p.T54M(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGCTCCAAAACGGACACGCTG	0.502													30	85					0	0	0	0	T	120021719	C	T	120021719	3	4	39	1	0	0	0	0	1	0	0	0	12669	536	19	1	167	1	PRR16	5	120021719	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08		120021719	60893541	23	7443											
PCDHA11	56138	broad.mit.edu	37	chr5	140248820	140248820	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggccaaacacggcaccttCgtgggccgcatcgcgcagga	9	4	14	14	5	0	0	0	0	0	0	2	2	0	1	3	4	1	3	3	4	1	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:140248820C>T	ENST00000398640.2	+	1	132	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGCA	0.652													47	138					0	0	0	0	T	140248820	C	T	140248820	2	4	39	1	0	0	0	0	0	0	0	1	11592	883	31	1		1	PCDHA11	5	140248820	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08	20227101	140248820	40666440	24	7444											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347507	140347507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccaacaccattgtggccGttctcagtgtcaatgaccaa	11	9	7	14	1	2	1	2	1	1	0	3	1	2	1	4	1	1	1	4	1	3	2			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:140347507G>A	ENST00000289269.5	+	1	1688	c.1156G>A	c.(1156-1158)Gtt>Att	p.V386I	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		386	Cadherin 4.				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)			CATTGTGGCCGTTCTCAGTGT	0.557													4	139					0	0	0	0	A	140347507	G	A	140347507	3	1	39	1	0	0	0	0	1	0	0	0	11604	1145	40	1	1158	1	PCDHAC2	5	140347507	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08	98687	140347507	40567753	25	7445											
PCDHB13	56123	broad.mit.edu	37	chr5	140595079	140595079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctacaccctgttcgtccgcGagaacaacagccccgccctg	8	6	8	19	4	0	1	0	0	0	1	2	2	1	1	6	0	4	1	6	0	3	2			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:140595079G>A	ENST00000341948.4	+	1	1571	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		462	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTCCGCGAGAACAACAG	0.602													27	186					0	0	0	0	A	140595079	G	A	140595079	3	1	39	1	0	0	0	0	1	0	0	0	11609	1059	37	1	1386	1	PCDHB13	5	140595079	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08	247572	140595079	40320181	26	7446											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731948	140731948	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgcggtgattctagcgatCgccctgcgcctgcgacgttc	4	10	12	15	7	1	1	0	1	1	0	4	3	1	1	2	1	3	1	2	1	1	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr5:140731948C>T	ENST00000523390.1	+	1	2121	c.2121C>T	c.(2119-2121)atC>atT	p.I707I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTAGCGATCGCCCTGCGCC	0.617													61	214					0	0	0	0	T	140731948	C	T	140731948	2	4	39	1	0	0	0	0	0	0	0	1	11633	874	31	1		1	PCDHGB1	5	140731948	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08	136869	140731948	40183312	27	7447											
BTNL2	56244	broad.mit.edu	37	chr6	32372831	32372831	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcagtgccacatttccCtttgcaatgccattctctat	8	16	4	13	0	3	0	1	0	2	0	5	0	4	0	3	0	3	1	3	0	2	5			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr6:32372831C>G	ENST00000454136.3	-	2	316	c.312G>C	c.(310-312)aaG>aaC	p.K104N	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374995.3_Missense_Mutation_p.K104N|BTNL2_ENST00000374993.1_Missense_Mutation_p.K104N|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000429232.2_Missense_Mutation_p.K104N			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	104	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCACATTTCCCTTTGCAATGC	0.507													55	95					0	0	0	0	G	32372831	C	G	32372831	3	3	39	1	0	0	0	0	1	0	0	0	1574	680	24	4	1075	4	BTNL2	6	32372831	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08		32372831	138742236	28	7448											
FUCA2	2519	broad.mit.edu	37	chr6	143825112	143825112	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgatccggtgctcctccGtcaccatccgaccacagaac	9	9	7	16	3	1	2	1	1	0	1	5	3	5	2	6	1	2	1	6	1	2	2			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr6:143825112G>A	ENST00000002165.5	-	3	745	c.690C>T	c.(688-690)gaC>gaT	p.D230D	RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000415586.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	230					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GTGCTCCTCCGTCACCATCCG	0.463													15	35					0	0	0	0	A	143825112	G	A	143825112	2	1	39	1	0	0	0	0	0	0	0	1	6143	1136	40	1		1	FUCA2	6	143825112	Silent	SNP	G	TCGA-BB-4225-01A-01D-1434-08	111452281	143825112	27289955	29	7449											
UTRN	7402	broad.mit.edu	37	chr6	145069596	145069596	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtgcggaatggctggaaGcccgtgggagacttactcat	8	9	14	10	3	1	1	1	0	0	1	2	4	2	3	2	4	3	1	2	4	3	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr6:145069596G>A	ENST00000367545.3	+	54	8154	c.8154G>A	c.(8152-8154)aaG>aaA	p.K2718K	UTRN_ENST00000367526.4_Silent_p.K273K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2718					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGGCTGGAAGCCCGTGGGAG	0.473													3	60					0	0	0	0	A	145069596	G	A	145069596	2	1	39	1	0	0	0	0	0	0	0	1	17199	962	34	4		4	UTRN	6	145069596	Silent	SNP	G	TCGA-BB-4225-01A-01D-1434-08	1244484	145069596	26045471	30	7450											
THBS2	7058	broad.mit.edu	37	chr6	169648954	169648954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagtcaaagcgcacgaagCggtaagccggcacgccgggg	10	4	16	11	6	1	0	1	0	0	0	1	1	1	0	2	4	3	4	2	4	4	2			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr6:169648954C>T	ENST00000366787.3	-	4	416	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	56	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GCGCACGAAGCGGTAAGCCGG	0.587													14	31					0	0	0	0	T	169648954	C	T	169648954	3	4	39	1	0	0	0	0	1	0	0	0	15948	768	27	1	3431	1	THBS2	6	169648954	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	24579358	169648954	1466113	31	7451											
FBXL18	80028	broad.mit.edu	37	chr7	5521496	5521496	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggacgtcccggatgacGtcggtcaggccctcgtggag	6	6	18	11	5	1	1	1	1	0	0	4	4	2	4	2	6	0	0	2	6	0	0			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr7:5521496G>A	ENST00000382368.3	-	5	2190	c.2067C>T	c.(2065-2067)gaC>gaT	p.D689D		NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	0									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CCCGGATGACGTCGGTCAGGC	0.617													64	161					0	0	0	0	A	5521496	G	A	5521496	2	1	39	1	0	0	0	0	0	0	0	1	5759	1136	40	1		1	FBXL18	7	5521496	Silent	SNP	G	TCGA-BB-4225-01A-01D-1434-08		5521496	153617167	32	7452											
CROT	54677	broad.mit.edu	37	chr7	87027901	87027901	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatgcggaaaagctagttCagctgactttttgtgctttt	8	16	10	7	1	1	2	1	2	0	0	1	3	1	3	0	1	4	4	0	1	3	6			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr7:87027901C>T	ENST00000331536.3	+	18	1965	c.1780C>T	c.(1780-1782)Cag>Tag	p.Q594*	CROT_ENST00000419147.2_Nonsense_Mutation_p.Q622*	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	594					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AAAGCTAGTTCAGCTGACTTT	0.373													20	70					0	0	0	0	T	87027901	C	T	87027901	4	4	39	1	0	0	0	0	0	1	0	0	3924	827	29	2	1930	2	CROT	7	87027901	Nonsense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	81506405	87027901	72110762	33	7453											
ARF5	381	broad.mit.edu	37	chr7	127231136	127231136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggctacagcacttacgcagCcgcacggtaggggtcctgcc	7	6	14	14	3	0	0	0	0	0	0	1	0	1	0	3	4	5	5	3	4	3	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr7:127231136C>T	ENST00000000233.5	+	5	604	c.450C>T	c.(448-450)agC>agT	p.S150S	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	150					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						ACTTACGCAGCCGCACGGTAG	0.577													13	192					0	0	0	0	T	127231136	C	T	127231136	2	4	39	1	0	0	0	0	0	0	0	1	849	738	26	4		4	ARF5	7	127231136	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08	40203235	127231136	31907527	34	7454											
DOCK5	80005	broad.mit.edu	37	chr8	25159858	25159858	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taggaccttagcagcatggaCctcatccggccccgcgtcag	8	7	11	15	3	2	0	2	0	0	0	3	2	3	2	5	3	2	2	5	3	2	2			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:25159858C>T	ENST00000276440.7	+	10	908	c.864C>T	c.(862-864)gaC>gaT	p.D288D	DOCK5_ENST00000481100.1_Silent_p.D288D	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	288						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCAGCATGGACCTCATCCGGC	0.557													24	27					0	0	0	0	T	25159858	C	T	25159858	2	4	39	1	0	0	0	0	0	0	0	1	4726	506	18	4		4	DOCK5	8	25159858	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08		25159858	121204164	35	7455											
EPHX2	2053	broad.mit.edu	37	chr8	27398085	27398085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcaggaggactttttgtaAatagcccagaagagcccagc	12	9	11	9	0	0	2	0	0	0	2	0	4	0	4	2	2	4	2	2	2	4	5			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:27398085A>G	ENST00000521400.1	+	15	1721	c.1291A>G	c.(1291-1293)Aat>Gat	p.N431D	EPHX2_ENST00000521780.1_Missense_Mutation_p.N365D|EPHX2_ENST00000517536.1_Missense_Mutation_p.N248D|EPHX2_ENST00000518379.1_Missense_Mutation_p.N399D|EPHX2_ENST00000380476.3_Missense_Mutation_p.N378D	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	431	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	ACTTTTTGTAAATAGCCCAGA	0.502													43	91					0	0	0	0	G	27398085	A	G	27398085	3	3	39	1	0	0	0	0	1	0	0	0	5218	14	1	5	1349	5	EPHX2	8	27398085	Missense_Mutation	SNP	A	TCGA-BB-4225-01A-01D-1434-08	2238227	27398085	118965937	36	7456											
PAG1	55824	broad.mit.edu	37	chr8	81897445	81897445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccccgtccacacttctcgCcgtgagcatggtatccactg	6	10	9	16	3	1	1	0	1	1	0	5	1	4	1	5	1	1	2	5	1	1	2			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:81897445C>T	ENST00000220597.4	-	7	1152	c.442G>A	c.(442-444)Gcg>Acg	p.A148T		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	148					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			ACACTTCTCGCCGTGAGCATG	0.577													14	129					0	0	0	0	T	81897445	C	T	81897445	3	4	39	1	0	0	0	0	1	0	0	0	11459	739	26	4	868	4	PAG1	8	81897445	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	54499360	81897445	64466577	37	7457											
FBXO43	286151	broad.mit.edu	37	chr8	101153320	101153320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgactgcgagctttgttcccGaagggtggacagtcttctcg	6	12	13	10	3	2	1	0	1	2	0	4	4	3	2	1	2	2	2	1	2	1	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:101153320G>A	ENST00000428847.2	-	2	1478	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	388					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTTGTTCCCGAAGGGTGGAC	0.483													61	281					0	0	0	0	A	101153320	G	A	101153320	3	1	39	1	0	0	0	0	1	0	0	0	5797	1057	37	1	980	1	FBXO43	8	101153320	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08	19255875	101153320	45210702	38	7458											
CYP11B1	1584	broad.mit.edu	37	chr8	143961145	143961145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcctggggacccgggCggctctcgtgcccagtgcct	3	8	14	16	3	1	0	0	0	1	0	3	1	2	1	4	4	2	1	4	4	0	0	rs144224988	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:143961145C>T	ENST00000292427.4	-	1	117	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	CYP11B1_ENST00000517471.1_Missense_Mutation_p.A29T|CYP11B1_ENST00000377675.3_Missense_Mutation_p.A29T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	29					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGACCCGGGCGGCTCTCGTG	0.642									Familial Hyperaldosteronism type I				42	218					0	0	0	0	T	143961145	C	T	143961145	3	4	39	1	0	0	0	0	1	0	0	0	4177	768	27	1	1462	1	CYP11B1	8	143961145	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	42807825	143961145	2402877	39	7459											
ZNF623	9831	broad.mit.edu	37	chr8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagattttaactcaactaCaaacgttaaaaataatcaaa	21	10	4	6	1	2	1	2	0	0	1	2	3	2	1	0	0	4	1	0	0	9	5			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K|ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413													8	287					0.00307968	0.00344036	1	0	A	144733541	C	A	144733541	3	1	39	1	0	0	0	0	1	0	0	0	18142	478	17	4	1501	4	ZNF623	8	144733541	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	772396	144733541	1630481	40	7460											
AQP7	364	broad.mit.edu	37	chr9	33385626	33385626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagaaaaactcaaaggaatGggcctgggcaggggcagtac	15	4	14	8	0	1	1	1	0	0	1	1	2	1	2	1	5	2	3	1	5	5	1	rs149760238	by1000genomes	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:33385626G>A	ENST00000537089.1	-	6	806	c.488C>T	c.(487-489)cCa>cTa	p.P163L	AQP7_ENST00000541274.1_Silent_p.P123P|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.P255L			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TCAAAGGAATGGGCCTGGGCA	0.622													5	136					0	0	0	0	A	33385626	G	A	33385626	3	1	39	1	0	0	0	0	1	0	0	0	833	1363	47	4		4	AQP7	9	33385626	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08		33385626	107827805	41	7461											
SVEP1	79987	broad.mit.edu	37	chr9	113168736	113168736	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagctccactggccatcGgcttcacaggtgatttcaga	9	9	10	13	1	2	3	2	1	0	2	4	3	3	3	3	3	1	2	3	3	0	2			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:113168736G>A	ENST00000401783.2	-	38	9480	c.9144C>T	c.(9142-9144)gcC>gcT	p.A3048A	SVEP1_ENST00000297826.5_Silent_p.A974A|SVEP1_ENST00000374469.1_Silent_p.A3025A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3048	Sushi 27.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTGGCCATCGGCTTCACAGG	0.498													49	31					0	0	0	0	A	113168736	G	A	113168736	2	1	39	1	0	0	0	0	0	0	0	1	15510	1103	39	1		1	SVEP1	9	113168736	Silent	SNP	G	TCGA-BB-4225-01A-01D-1434-08	79783110	113168736	28044695	42	7462											
FNBP1	23048	broad.mit.edu	37	chr9	132691881	132691881	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgagtatggtaatattCatgctgctcatggttgaatt	10	16	11	4	0	2	2	2	2	0	0	2	3	2	2	0	2	2	5	0	2	4	6			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:132691881C>A	ENST00000420781.1	-	7	825	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	FNBP1_ENST00000446176.2_Nonsense_Mutation_p.E203*|FNBP1_ENST00000355681.3_Nonsense_Mutation_p.E203*			Q96RU3	FNBP1_HUMAN	formin binding protein 1	203	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TGGTAATATTCATGCTGCTCA	0.423			T	MLL	AML								4	142					0.00909568	0.0100702	1	0	A	132691881	C	A	132691881	4	1	39	1	0	0	0	0	0	1	0	0	6010	835	29	2	1290	2	FNBP1	9	132691881	Nonsense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	19523145	132691881	8521550	43	7463											
GLT6D1	360203	broad.mit.edu	37	chr9	138516492	138516492	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatttgcggagtgtaggaaCggcctcaggtactcctctgc	7	12	12	10	2	2	0	1	0	1	0	3	2	3	2	2	4	4	2	2	4	4	4			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:138516492C>T	ENST00000371763.1	-	5	535	c.282G>A	c.(280-282)ccG>ccA	p.P94P		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	94					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGTGTAGGAACGGCCTCAGGT	0.418													22	84					0	0	0	0	T	138516492	C	T	138516492	2	4	39	1	0	0	0	0	0	0	0	1	6519	523	19	1		1	GLT6D1	9	138516492	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08	5824611	138516492	2696939	44	7464											
NOTCH1	4851	broad.mit.edu	37	chr9	139412263	139412263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtggcgtcgttctggCacgggttcgagacgcactcg	5	8	17	11	6	1	1	0	0	1	1	4	2	1	1	0	5	0	5	0	5	0	2			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr9:139412263C>T	ENST00000277541.6	-	8	1457	c.1382G>A	c.(1381-1383)tGc>tAc	p.C461Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	461	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCGTTCTGGCACGGGTTCGA	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			52	27					0	0	0	0	T	139412263	C	T	139412263	3	4	39	1	0	0	0	0	1	0	0	0	10617	710	25	4	6393	4	NOTCH1	9	139412263	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	895771	139412263	1801168	45	7465											
OIT3	170392	broad.mit.edu	37	chr10	74673159	74673159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgaccaacacctcctgccGaggagtgtccaacggcaccc	9	5	9	18	2	0	1	0	1	0	0	2	3	2	2	7	2	3	1	7	2	2	0			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr10:74673159G>A	ENST00000334011.5	+	6	1102	c.884G>A	c.(883-885)cGa>cAa	p.R295Q		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	295	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ACCTCCTGCCGAGGAGTGTCC	0.542													62	149					0	0	0	0	A	74673159	G	A	74673159	3	1	39	1	0	0	0	0	1	0	0	0	10920	1058	37	1	906	1	OIT3	10	74673159	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08		74673159	60861588	46	7466											
AFAP1L2	84632	broad.mit.edu	37	chr10	116057015	116057015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtgggtggtgtccacGgtggtgcctaacgtcacagg	6	9	16	10	2	1	0	1	0	0	0	3	0	3	0	3	6	2	0	3	6	1	1	rs150853765	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr10:116057015G>A	ENST00000369271.3	-	17	2571	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	AFAP1L2_ENST00000304129.4_Silent_p.T757T|AFAP1L2_ENST00000545353.1_Silent_p.T810T|AFAP1L2_ENST00000491814.1_5'UTR	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	757					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TGGTGTCCACGGTGGTGCCTA	0.652													18	52					0	0	0	0	A	116057015	G	A	116057015	2	1	39	1	0	0	0	0	0	0	0	1	355	1103	39	1		1	AFAP1L2	10	116057015	Silent	SNP	G	TCGA-BB-4225-01A-01D-1434-08	41383856	116057015	19477732	47	7467											
ABCC8	6833	broad.mit.edu	37	chr11	17426127	17426127	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggggcaagagggccacgagGaacacaggtgtgacatagga	14	3	17	7	1	0	2	0	1	0	1	0	5	0	4	1	6	1	1	1	6	3	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:17426127G>A	ENST00000302539.4	-	28	3617	c.3492C>T	c.(3490-3492)ttC>ttT	p.F1164F	ABCC8_ENST00000389817.3_Silent_p.F1163F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1163	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGGCCACGAGGAACACAGGTG	0.627													17	96					0	0	0	0	A	17426127	G	A	17426127	2	1	39	1	0	0	0	0	0	0	0	1	58	1165	41	2		2	ABCC8	11	17426127	Silent	SNP	G	TCGA-BB-4225-01A-01D-1434-08		17426127	117580389	48	7468											
ASRGL1	80150	broad.mit.edu	37	chr11	62159699	62159699	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggcagccgccaaggaCggcaagctgcacttcggaat	9	5	13	14	3	0	0	0	0	0	0	1	2	0	2	3	4	3	4	3	4	3	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:62159699C>T	ENST00000415229.2	+	7	1085	c.870C>T	c.(868-870)gaC>gaT	p.D290D	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Silent_p.D290D	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	290					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CCGCCAAGGACGGCAAGCTGC	0.532											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	79	84					0	0	0	0	T	62159699	C	T	62159699	2	4	39	1	0	0	0	0	0	0	0	1	1064	535	19	1		1	ASRGL1	11	62159699	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08	44733572	62159699	72846817	49	7469											
PLCB3	5331	broad.mit.edu	37	chr11	64033385	64033385	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgctgatgtggaggacacGaaggagggggaggacgaggc	10	3	21	7	3	0	1	0	1	0	0	0	8	0	6	1	7	0	1	1	7	1	0			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:64033385G>A	ENST00000540288.1	+	26	3166	c.3063G>A	c.(3061-3063)acG>acA	p.T1021T	PLCB3_ENST00000279230.6_Silent_p.T1021T|PLCB3_ENST00000325234.5_Silent_p.T954T	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1021					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGAGGACACGAAGGAGGGGG	0.662													21	29					0	0	0	0	A	64033385	G	A	64033385	2	1	39	1	0	0	0	0	0	0	0	1	12101	1045	37	1		1	PLCB3	11	64033385	Silent	SNP	G	TCGA-BB-4225-01A-01D-1434-08	1873686	64033385	70973131	50	7470											
CTTN	2017	broad.mit.edu	37	chr11	70260656	70260656	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accctgttccagtcagctgtCggccacgaatatcagtcgaa	10	9	9	13	3	2	0	2	0	0	0	5	2	3	0	3	1	1	2	3	1	3	2			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:70260656C>T	ENST00000301843.8	+	6	506	c.300C>T	c.(298-300)gtC>gtT	p.V100V	CTTN_ENST00000376561.3_Silent_p.V100V|CTTN_ENST00000346329.3_Silent_p.V100V	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	100						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGTCAGCTGTCGGCCACGAAT	0.557													17	89					0	0	0	0	T	70260656	C	T	70260656	2	4	39	1	0	0	0	0	0	0	0	1	4076	871	31	1		1	CTTN	11	70260656	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08	6227271	70260656	64745860	51	7471											
PDE2A	5138	broad.mit.edu	37	chr11	72292993	72292993	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatgctcaggatggccTggagagggcagagggaggta	10	5	19	7	0	1	2	1	0	0	2	1	5	1	4	1	6	2	5	1	6	1	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:72292993T>C	ENST00000334456.5	-	22	2097		c.e22-2		PDE2A_ENST00000540345.1_Splice_Site|PDE2A_ENST00000544570.1_Splice_Site|PDE2A_ENST00000418754.2_Splice_Site|PDE2A_ENST00000444035.2_Splice_Site|PDE2A_ENST00000376450.3_Splice_Site	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CAGGATGGCCTGGAGAGGGCA	0.567													3	65					0	0	0	0	C	72292993	T	C	72292993	5	2	39	1	0	0	0	0	0	0	1	0	11707	1594	55	5	1015	5	PDE2A	11	72292993	Splice_Site	SNP	T	TCGA-BB-4225-01A-01D-1434-08	2032337	72292993	62713523	52	7472											
DLAT	1737	broad.mit.edu	37	chr11	111916646	111916646	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcattattacctttctatCgatgtaaatatgggagaagt	12	15	7	7	1	2	1	1	0	1	1	3	3	2	1	2	1	1	1	2	1	7	6			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr11:111916646C>T	ENST00000280346.6	+	10	2009	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	DLAT_ENST00000537636.1_Silent_p.I221I|DLAT_ENST00000393051.1_Silent_p.I345I	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	450	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	ACCTTTCTATCGATGTAAATA	0.299													10	54					0	0	0	0	T	111916646	C	T	111916646	2	4	39	1	0	0	0	0	0	0	0	1	4586	874	31	1		1	DLAT	11	111916646	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08	39623653	111916646	23089870	53	7473											
IFFO1	25900	broad.mit.edu	37	chr12	6665033	6665033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggggccgggcccggccCgggcggcgagtaggcagcag	5	1	22	13	6	0	0	0	0	0	0	0	1	0	0	3	8	1	3	3	8	1	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:6665033C>T	ENST00000336604.4	-	1	204	c.163G>A	c.(163-165)Ggg>Agg	p.G55R	IFFO1_ENST00000356896.4_Missense_Mutation_p.G55R|IFFO1_ENST00000396840.2_Missense_Mutation_p.G55R	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	55						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						gggcccggcccgggcggcgAG	0.726													4	64					0	0	0	0	T	6665033	C	T	6665033	3	4	39	1	0	0	0	0	1	0	0	0	7563	652	23	1	1568	1	IFFO1	12	6665033	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08		6665033	127186862	54	7474											
LRP6	4040	broad.mit.edu	37	chr12	12315147	12315147	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttcggcagggtccaacgcGagagctctgggactatctag	8	8	13	12	3	2	1	0	0	2	1	4	3	3	2	2	3	2	2	2	3	3	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:12315147G>A	ENST00000261349.4	-	10	2335	c.2259C>T	c.(2257-2259)ctC>ctT	p.L753L	LRP6_ENST00000543091.1_Silent_p.L753L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	753	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTCCAACGCGAGAGCTCTGG	0.478													13	199					0	0	0	0	A	12315147	G	A	12315147	2	1	39	1	0	0	0	0	0	0	0	1	9026	1045	37	1		1	LRP6	12	12315147	Silent	SNP	G	TCGA-BB-4225-01A-01D-1434-08	5650114	12315147	121536748	55	7475											
SLC6A15	55117	broad.mit.edu	37	chr12	85266897	85266897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctcatttatgacatttgCtttgaagcccagaactgcaa	11	15	6	9	0	1	3	1	2	1	1	2	3	1	3	1	0	4	2	1	0	4	5			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:85266897C>T	ENST00000266682.5	-	7	1619	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T	SLC6A15_ENST00000309283.7_Missense_Mutation_p.A68T|SLC6A15_ENST00000552192.1_Missense_Mutation_p.A253T|SLC6A15_ENST00000551388.1_5'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	360					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATGACATTTGCTTTGAAGCCC	0.343													13	72					0	0	0	0	T	85266897	C	T	85266897	3	4	39	1	0	0	0	0	1	0	0	0	14766	797	28	4	1138	4	SLC6A15	12	85266897	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	72951750	85266897	48584998	56	7476											
ANO4	121601	broad.mit.edu	37	chr12	101480443	101480443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcttcctgccagatctgCgtggtgattgctgccgtgtt	3	16	12	10	2	2	2	0	1	2	1	3	2	3	2	3	1	4	2	3	1	0	4			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:101480443C>T	ENST00000392979.3	+	16	1798	c.1437C>T	c.(1435-1437)tgC>tgT	p.C479C	ANO4_ENST00000299222.9_Silent_p.C34C|ANO4_ENST00000550015.1_Silent_p.C34C|ANO4_ENST00000392977.3_Silent_p.C514C	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	514						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCCAGATCTGCGTGGTGATTG	0.507										HNSCC(74;0.22)			9	672					0	0	0	0	T	101480443	C	T	101480443	2	4	39	1	0	0	0	0	0	0	0	1	698	776	27	1		1	ANO4	12	101480443	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08	16213546	101480443	32371452	57	7477											
TXNRD1	7296	broad.mit.edu	37	chr12	104719127	104719127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttacaggttgaacaaattGaagcagggacaccaggccga	14	7	11	9	1	1	2	0	2	1	0	1	4	1	3	2	3	3	2	2	3	4	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr12:104719127G>A	ENST00000526691.1	+	9	1390	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	TXNRD1_ENST00000540716.1_Missense_Mutation_p.E222K|TXNRD1_ENST00000529546.1_Missense_Mutation_p.E222K|TXNRD1_ENST00000526950.1_Missense_Mutation_p.E329K|TXNRD1_ENST00000525566.1_Missense_Mutation_p.E410K|TXNRD1_ENST00000524698.1_Missense_Mutation_p.E260K|TXNRD1_ENST00000503506.2_Missense_Mutation_p.E260K|TXNRD1_ENST00000429002.2_Missense_Mutation_p.E410K|TXNRD1_ENST00000427956.1_Missense_Mutation_p.E375K|TXNRD1_ENST00000397736.2_Missense_Mutation_p.E304K|TXNRD1_ENST00000388854.3_Missense_Mutation_p.E312K|TXNRD1_ENST00000378070.4_Missense_Mutation_p.E359K|TXNRD1_ENST00000354940.6_Missense_Mutation_p.E260K|TXNRD1_ENST00000526390.1_Missense_Mutation_p.E304K|TXNRD1_ENST00000542918.1_Missense_Mutation_p.E310K	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	410					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TGAACAAATTGAAGCAGGGAC	0.418													5	23					0	0	0	0	A	104719127	G	A	104719127	3	1	39	1	0	0	0	0	1	0	0	0	16903	1291	45	2	1284	2	TXNRD1	12	104719127	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08	3238684	104719127	29132768	58	7478											
TBPL2	387332	broad.mit.edu	37	chr14	55903726	55903726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaggggagacctgggtgggGcaaggccatcctaggcagtt	9	6	17	9	0	0	1	0	0	0	1	1	2	1	1	3	7	0	3	3	7	2	2			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr14:55903726G>A	ENST00000247219.5	-	2	231	c.161C>T	c.(160-162)gCc>gTc	p.A54V		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	54					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CCTGGGTGGGGCAAGGCCATC	0.483													4	202					0	0	0	0	A	55903726	G	A	55903726	3	1	39	1	0	0	0	0	1	0	0	0	15740	1203	42	4	990	4	TBPL2	14	55903726	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08		55903726	51445814	59	7479											
CHGA	1113	broad.mit.edu	37	chr14	93393911	93393911	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgaacggatcctttcCattctgagacatcagaattt	12	12	8	9	1	2	4	1	2	1	3	4	6	4	5	2	1	1	1	2	1	2	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr14:93393911C>A	ENST00000216492.5	+	4	484	c.204C>A	c.(202-204)tcC>tcA	p.S68S	CHGA_ENST00000334654.4_Silent_p.S68S|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	68					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GGATCCTTTCCATTCTGAGAC	0.443													5	295					0.014758	0.0161946	1	0	A	93393911	C	A	93393911	2	1	39	1	0	0	0	0	0	0	0	1	3367	581	21	4		4	CHGA	14	93393911	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08	37490185	93393911	13955629	60	7480											
MTMR10	54893	broad.mit.edu	37	chr15	31234209	31234209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttctccttggaagtaattCttggtcactgatgattccat	9	17	7	8	0	3	2	1	2	2	0	5	3	4	3	2	2	0	1	2	2	2	6			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr15:31234209C>T	ENST00000435680.1	-	16	1895	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	600	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GGAAGTAATTCTTGGTCACTG	0.408													9	320					0	0	0	0	T	31234209	C	T	31234209	3	4	39	1	0	0	0	0	1	0	0	0	10009	922	32	2	539	2	MTMR10	15	31234209	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08		31234209	71297183	61	7481											
MFGE8	4240	broad.mit.edu	37	chr15	89450552	89450552	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacacgcacagacgaggcGgcgatctgtgagttggcaat	10	7	14	10	4	2	2	1	1	1	1	2	4	2	2	0	3	0	3	0	3	1	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr15:89450552G>A	ENST00000539437.1	-	4	373	c.237C>T	c.(235-237)gcC>gcT	p.A79A	MFGE8_ENST00000542878.1_Silent_p.A43A|MFGE8_ENST00000566497.1_Silent_p.A87A|MFGE8_ENST00000268151.7_Silent_p.A87A|MFGE8_ENST00000559997.1_5'UTR|MFGE8_ENST00000268150.8_Silent_p.A87A			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	87	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)					CAGACGAGGCGGCGATCTGTG	0.617													23	38					0	0	0	0	A	89450552	G	A	89450552	2	1	39	1	0	0	0	0	0	0	0	1	9589	1103	39	1		1	MFGE8	15	89450552	Silent	SNP	G	TCGA-BB-4225-01A-01D-1434-08	58216343	89450552	13080840	62	7482											
PPL	5493	broad.mit.edu	37	chr16	4947769	4947769	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgcacagcctccatgtgCgcctgccaggaagagaaggg	9	5	15	12	2	0	1	0	0	0	1	1	3	1	2	4	2	4	1	4	2	2	0			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr16:4947769C>T	ENST00000345988.2	-	9	968	c.879G>A	c.(877-879)gcG>gcA	p.A293A	PPL_ENST00000590782.2_Silent_p.A291A	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	293					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTCCATGTGCGCCTGCCAGG	0.612													3	28					0	0	0	0	T	4947769	C	T	4947769	2	4	39	1	0	0	0	0	0	0	0	1	12410	755	27	1		1	PPL	16	4947769	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08		4947769	85406984	63	7483											
BCKDK	10295	broad.mit.edu	37	chr16	31122691	31122691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcaccatcgccaacaatGatgtcgatctgatcatcagg	12	10	7	12	2	5	2	4	2	1	0	7	3	5	2	2	1	1	0	2	1	2	0			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr16:31122691G>A	ENST00000394951.1	+	11	1539	c.916G>A	c.(916-918)Gat>Aat	p.D306N	BCKDK_ENST00000287507.3_Intron|BCKDK_ENST00000219794.6_Missense_Mutation_p.D306N|BCKDK_ENST00000394950.3_Missense_Mutation_p.D306N			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	306	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CGCCAACAATGATGTCGATCT	0.507													17	68					0	0	0	0	A	31122691	G	A	31122691	3	1	39	1	0	0	0	0	1	0	0	0	1365	1290	45	2	950	2	BCKDK	16	31122691	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08	26174922	31122691	59232062	64	7484											
CLEC18C	283971	broad.mit.edu	37	chr16	70211272	70211272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatgcagctgctgcccgcGggcttggcgtcctttgttga	5	11	13	12	3	0	1	0	1	0	0	1	1	1	1	2	2	5	5	2	2	1	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr16:70211272G>A	ENST00000569347.2	+	3	599	c.345G>A	c.(343-345)gcG>gcA	p.A115A	CLEC18C_ENST00000314151.8_Silent_p.A115A|CLEC18C_ENST00000561612.1_Intron|CLEC18C_ENST00000536907.2_Silent_p.A115A|CLEC18C_ENST00000541793.2_Silent_p.A115A	NM_173619.2	NP_775890.2			C-type lectin domain family 18, member C											endometrium(3)|large_intestine(6)|lung(1)	10						TGCTGCCCGCGGGCTTGGCGT	0.662													4	128					0	0	0	0	A	70211272	G	A	70211272	2	1	39	1	0	0	0	0	0	0	0	1	3534	1103	39	1		1	CLEC18C	16	70211272	Silent	SNP	G	TCGA-BB-4225-01A-01D-1434-08	39088581	70211272	20143481	65	7485											
MTHFSD	64779	broad.mit.edu	37	chr16	86585794	86585794	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgcacttacttcaaggacGaagaagcgagcacttttctg	11	11	10	9	2	2	1	1	0	1	1	2	4	2	2	0	1	4	3	0	1	4	5			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr16:86585794G>A	ENST00000381214.5	-	3	246	c.228C>T	c.(226-228)ttC>ttT	p.F76F	MTHFSD_ENST00000322911.6_Intron|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000360900.6_Intron|MTHFSD_ENST00000543303.2_Silent_p.F75F	NM_001159378.1	NP_001152850.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	76					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CTTCAAGGACGAAGAAGCGAG	0.488													42	29					0	0	0	0	A	86585794	G	A	86585794	2	1	39	1	0	0	0	0	0	0	0	1	10003	1049	37	1		1	MTHFSD	16	86585794	Silent	SNP	G	TCGA-BB-4225-01A-01D-1434-08	16374522	86585794	3768959	66	7486											
MYH3	4621	broad.mit.edu	37	chr17	10558189	10558189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagccttaccctgttgtcctCagtttccacagtgaccttcc	6	13	7	15	0	1	1	1	1	0	0	4	2	4	1	6	0	2	2	6	0	1	4			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:10558189C>T	ENST00000583535.1	-	3	280	c.193G>A	c.(193-195)Gag>Aag	p.E65K	MYH3_ENST00000226209.7_Missense_Mutation_p.E65K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	65	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGTTGTCCTCAGTTTCCACA	0.537													84	300					0	0	0	0	T	10558189	C	T	10558189	3	4	39	1	0	0	0	0	1	0	0	0	10106	835	29	2	5785	2	MYH3	17	10558189	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08		10558189	70637021	67	7487											
AKAP10	11216	broad.mit.edu	37	chr17	19835244	19835244	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgaatggatgagatcattCaaatatttataataaagatt	18	13	6	4	1	2	2	2	1	0	2	2	5	2	3	1	1	0	0	1	1	7	7			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:19835244C>T	ENST00000225737.6	-	10	1672	c.1515G>A	c.(1513-1515)ttG>ttA	p.L505L	AKAP10_ENST00000395536.3_Intron	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	505	RGS 2.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TGAGATCATTCAAATATTTAT	0.418													15	107					0	0	0	0	T	19835244	C	T	19835244	2	4	39	1	0	0	0	0	0	0	0	1	446	825	29	2		2	AKAP10	17	19835244	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08	9277055	19835244	61359966	68	7488											
FOXN1	8456	broad.mit.edu	37	chr17	26851658	26851658	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgcccagccggccccggCcctgggcccttcaggctctc	3	6	11	21	2	2	0	1	0	1	0	3	0	2	0	6	4	2	1	6	4	0	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:26851658C>T	ENST00000226247.2	+	2	290	c.261C>T	c.(259-261)ggC>ggT	p.G87G	FOXN1_ENST00000579795.1_Silent_p.G87G	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	87					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCGGCCCCGGCCCTGGGCCCT	0.682													18	93					0	0	0	0	T	26851658	C	T	26851658	2	4	39	1	0	0	0	0	0	0	0	1	6066	726	26	4		4	FOXN1	17	26851658	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08	7016414	26851658	54343552	69	7489											
GPR179	440435	broad.mit.edu	37	chr17	36491542	36491542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccgcacccagcgaagagcGatgcagcggaatacactggg	12	3	14	12	4	0	1	0	0	0	1	0	4	0	2	2	2	6	2	2	2	3	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:36491542G>A	ENST00000342292.4	-	6	1358	c.1338C>T	c.(1336-1338)atC>atT	p.I446I		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	446						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGCGAAGAGCGATGCAGCGGA	0.547													15	63					0	0	0	0	A	36491542	G	A	36491542	2	1	39	1	0	0	0	0	0	0	0	1	6723	1048	37	1		1	GPR179	17	36491542	Silent	SNP	G	TCGA-BB-4225-01A-01D-1434-08	9639884	36491542	44703668	70	7490											
GSDMA	284110	broad.mit.edu	37	chr17	38133088	38133088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggagagcacgatggaacAgaacttcctgctggataaag	13	7	14	7	1	0	2	0	0	0	2	1	6	1	4	1	4	4	2	1	4	4	2			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:38133088A>G	ENST00000301659.4	+	12	1233	c.1115A>G	c.(1114-1116)cAg>cGg	p.Q372R		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	372					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ACGATGGAACAGAACTTCCTG	0.517													30	183					0	0	0	0	G	38133088	A	G	38133088	3	3	39	1	0	0	0	0	1	0	0	0	6866	188	7	5	1157	5	GSDMA	17	38133088	Missense_Mutation	SNP	A	TCGA-BB-4225-01A-01D-1434-08	1641546	38133088	43062122	71	7491											
KRT39	390792	broad.mit.edu	37	chr17	39122694	39122694	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacaggtaatcaggacataGaacagggagctctttgttac	14	9	11	7	0	2	2	1	0	1	2	2	4	2	4	0	3	3	3	0	3	4	4	rs144576097	byFrequency	TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:39122694G>A	ENST00000355612.2	-	1	450	c.415C>T	c.(415-417)Cta>Tta	p.L139L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	139	Linker 1.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TCAGGACATAGAACAGGGAGC	0.423													55	189					0	0	0	0	A	39122694	G	A	39122694	2	1	39	1	0	0	0	0	0	0	0	1	8528	933	33	2		2	KRT39	17	39122694	Silent	SNP	G	TCGA-BB-4225-01A-01D-1434-08	989606	39122694	42072516	72	7492											
ABCA10	10349	broad.mit.edu	37	chr17	67186544	67186544	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggttcaagaatacttCattcagagatgtcactgaaa	14	13	7	7	0	5	3	4	1	1	2	5	4	5	3	0	1	1	1	0	1	5	6			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:67186544C>A	ENST00000269081.4	-	19	2995	c.2086G>T	c.(2086-2088)Gaa>Taa	p.E696*	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	696					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAGAATACTTCATTCAGAGAT	0.333													19	98					3.51602e-12	4.03691e-12	1	0	A	67186544	C	A	67186544	4	1	39	1	0	0	0	0	0	1	0	0	29	835	29	2	2633	2	ABCA10	17	67186544	Nonsense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	28063850	67186544	14008666	73	7493											
KCNJ16	3773	broad.mit.edu	37	chr17	68129405	68129405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggagaccaccacttccGccacacatgaatatagggaa	14	6	9	12	1	0	3	0	2	0	1	1	5	1	4	4	2	0	0	4	2	4	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:68129405G>A	ENST00000585558.1	+	4	1670	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	KCNJ16_ENST00000392670.1_Missense_Mutation_p.A393T|KCNJ16_ENST00000283936.1_Missense_Mutation_p.A393T|KCNJ16_ENST00000392671.1_Missense_Mutation_p.A393T|KCNJ16_ENST00000589377.1_Missense_Mutation_p.A393T|KCNJ16_ENST00000586462.1_Missense_Mutation_p.A432T			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	393					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CACCACTTCCGCCACACATGA	0.458													23	107					0	0	0	0	A	68129405	G	A	68129405	3	1	39	1	0	0	0	0	1	0	0	0	8103	1087	38	1	1179	1	KCNJ16	17	68129405	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08	942861	68129405	13065805	74	7494											
FDXR	2232	broad.mit.edu	37	chr17	72862630	72862630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtccctgcccacctccaCgttgccccagaaggcacagc	8	5	8	20	2	0	1	0	0	0	1	2	1	2	1	6	1	3	2	6	1	1	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:72862630C>T	ENST00000455107.2	-	5	615	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	FDXR_ENST00000582944.1_Missense_Mutation_p.V103M|FDXR_ENST00000544854.1_Missense_Mutation_p.V59M|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000442102.2_Missense_Mutation_p.V154M|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000581530.1_Missense_Mutation_p.V111M|FDXR_ENST00000413947.2_Missense_Mutation_p.V142M|FDXR_ENST00000583917.1_Missense_Mutation_p.V112M|FDXR_ENST00000293195.5_Missense_Mutation_p.V111M			P22570	ADRO_HUMAN	ferredoxin reductase	111					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCACCTCCACGTTGCCCCAG	0.652													18	44					0	0	0	0	T	72862630	C	T	72862630	3	4	39	1	0	0	0	0	1	0	0	0	5852	536	19	1	1198	1	FDXR	17	72862630	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	4733225	72862630	8332580	75	7495											
PGS1	9489	broad.mit.edu	37	chr17	76388715	76388715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcacgttagggtgctttCttccccggcagagtttttcg	4	16	10	11	3	2	1	1	0	2	1	5	1	3	1	2	2	1	4	2	2	1	6			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr17:76388715C>T	ENST00000262764.6	+	2	328	c.302C>T	c.(301-303)tCt>tTt	p.S101F	PGS1_ENST00000329897.7_5'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	101					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			AGGGTGCTTTCTTCCCCGGCA	0.502													27	141					0	0	0	0	T	76388715	C	T	76388715	3	4	39	1	0	0	0	0	1	0	0	0	11880	913	32	2	308	2	PGS1	17	76388715	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	3526085	76388715	4806495	76	7496											
MAPK4	5596	broad.mit.edu	37	chr18	48190638	48190638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcagcgtggcgtacatcGtccaggagtacatggagacc	10	8	13	10	3	1	1	1	0	0	1	3	3	2	2	2	3	3	3	2	3	2	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr18:48190638G>A	ENST00000400384.2	+	2	1346	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	MAPK4_ENST00000592595.1_Missense_Mutation_p.V104I|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.V104I	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	104	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.V104I(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGCGTACATCGTCCAGGAGTA	0.612													26	105					0	0	0	0	A	48190638	G	A	48190638	3	1	39	1	0	0	0	0	1	0	0	0	9349	1145	40	1	312	1	MAPK4	18	48190638	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08		48190638	29886610	77	7497											
SALL3	27164	broad.mit.edu	37	chr18	76753935	76753935	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttcaaggcccagtttccGttcggggggctgctagactc	6	10	13	12	2	1	1	1	0	0	1	4	1	2	1	2	4	1	5	2	4	2	4			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr18:76753935G>A	ENST00000536229.3	+	1	2254	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	SALL3_ENST00000575389.2_Silent_p.P648P|SALL3_ENST00000537592.2_Silent_p.P648P			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P648P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCAGTTTCCGTTCGGGGGGC	0.652													3	15					0	0	0	0	A	76753935	G	A	76753935	2	1	39	1	0	0	0	0	0	0	0	1	13897	1132	40	1		1	SALL3	18	76753935	Silent	SNP	G	TCGA-BB-4225-01A-01D-1434-08	28563297	76753935	1323313	78	7498											
NFATC1	4772	broad.mit.edu	37	chr18	77246917	77246917	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagagcctgaagagttggAccagttgtacctggatgacg	10	8	15	8	2	0	4	0	2	0	2	0	7	0	6	3	2	2	3	3	2	2	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr18:77246917A>G	ENST00000329101.4	+	9	2779	c.2723A>G	c.(2722-2724)gAc>gGc	p.D908G	NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000545796.1_Missense_Mutation_p.D449G|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000427363.2_Missense_Mutation_p.D921G|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000397790.2_Intron	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	921	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GAAGAGTTGGACCAGTTGTAC	0.637													3	122					0	0	0	0	G	77246917	A	G	77246917	3	3	39	1	0	0	0	0	1	0	0	0	10431	275	10	5	2947	5	NFATC1	18	77246917	Missense_Mutation	SNP	A	TCGA-BB-4225-01A-01D-1434-08	492982	77246917	830331	79	7499											
ABCA7	10347	broad.mit.edu	37	chr19	1058700	1058700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatacaggggcccctcttcCttctcttcacactactgctg	6	13	7	15	0	3	1	1	1	2	0	5	1	4	1	3	2	3	1	3	2	2	5			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:1058700C>T	ENST00000263094.6	+	38	5464	c.5233C>T	c.(5233-5235)Ctt>Ttt	p.L1745F	ABCA7_ENST00000435683.2_Missense_Mutation_p.L1607F|ABCA7_ENST00000433129.1_Missense_Mutation_p.L1745F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1745					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GCCCCTCTTCCTTCTCTTCAC	0.572													31	189					0	0	0	0	T	1058700	C	T	1058700	3	4	39	1	0	0	0	0	1	0	0	0	37	681	24	4	5379	4	ABCA7	19	1058700	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08		1058700	58070283	80	7500											
MUC16	94025	broad.mit.edu	37	chr19	9065980	9065980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcatctgaagtgtggcTcagctttggaggtgaactgg	7	13	13	8	0	4	2	2	2	2	0	5	3	4	3	0	4	2	2	0	4	2	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:9065980T>C	ENST00000397910.4	-	3	21669	c.21466A>G	c.(21466-21468)Agc>Ggc	p.S7156G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7158	Ser-rich.|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						GAAGTGTGGCTCAGCTTTGGA	0.502													32	139					0	0	0	0	C	9065980	T	C	9065980	3	2	39	1	0	0	0	0	1	0	0	0	10043	1551	54	5	22385	5	MUC16	19	9065980	Missense_Mutation	SNP	T	TCGA-BB-4225-01A-01D-1434-08	8007280	9065980	50063003	81	7501											
C19orf66	55337	broad.mit.edu	37	chr19	10202783	10202783	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatcctgtgctcaccccaaGagccggaagcagaaccacct	12	5	8	16	1	1	2	1	0	0	2	2	3	2	3	6	1	4	2	6	1	3	0			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:10202783G>A	ENST00000397881.3	+	8	1005	c.528G>A	c.(526-528)aaG>aaA	p.K176K	C19orf66_ENST00000591813.1_Silent_p.K191K|C19orf66_ENST00000253110.11_Silent_p.K227K			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	227										large_intestine(3)|skin(1)	4						CTCACCCCAAGAGCCGGAAGC	0.642													29	139					0	0	0	0	A	10202783	G	A	10202783	2	1	39	1	0	0	0	0	0	0	0	1	1964	933	33	2		2	C19orf66	19	10202783	Silent	SNP	G	TCGA-BB-4225-01A-01D-1434-08	1136803	10202783	48926200	82	7502											
CILP2	148113	broad.mit.edu	37	chr19	19654523	19654523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcctgcgacccccggccccGagagtacctgatcaagctcc	8	5	10	18	3	1	2	1	1	0	1	2	4	2	2	7	1	4	2	7	1	2	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:19654523G>A	ENST00000586018.1	+	8	1289	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	CILP2_ENST00000291495.4_Missense_Mutation_p.R390Q			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	390						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCCCGGCCCCGAGAGTACCTG	0.662													125	491					0	0	0	0	A	19654523	G	A	19654523	3	1	39	1	0	0	0	0	1	0	0	0	3459	1058	37	1	1199	1	CILP2	19	19654523	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08	9451740	19654523	39474460	83	7503											
DHX34	9704	broad.mit.edu	37	chr19	47856613	47856613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgttaccgcatcaacctctCtgttcttggccctgccacgc	6	11	7	17	3	3	0	1	0	2	0	4	0	3	0	4	1	3	3	4	1	2	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:47856613C>T	ENST00000328771.4	+	2	675	c.326C>T	c.(325-327)tCt>tTt	p.S109F		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	109						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ATCAACCTCTCTGTTCTTGGC	0.637													52	282					0	0	0	0	T	47856613	C	T	47856613	3	4	39	1	0	0	0	0	1	0	0	0	4544	913	32	2	328	2	DHX34	19	47856613	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	28202090	47856613	11272370	84	7504											
VRK3	51231	broad.mit.edu	37	chr19	50482394	50482394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtcatatggagacacaCgcagatcctgcagcaaagct	12	7	12	10	1	1	2	1	0	0	2	2	3	2	2	1	3	3	4	1	3	2	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr19:50482394C>T	ENST00000599538.1	-	14	2046	c.1382G>A	c.(1381-1383)cGt>cAt	p.R461H	VRK3_ENST00000316763.3_Missense_Mutation_p.R461H|VRK3_ENST00000601341.1_Missense_Mutation_p.R411H|VRK3_ENST00000443401.2_Missense_Mutation_p.R230H|VRK3_ENST00000377011.2_Missense_Mutation_p.R411H|VRK3_ENST00000594948.1_Missense_Mutation_p.R461H			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	461						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TGGAGACACACGCAGATCCTG	0.572													53	113					0	0	0	0	T	50482394	C	T	50482394	3	4	39	1	0	0	0	0	1	0	0	0	17317	536	19	1	46	1	VRK3	19	50482394	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08	2625781	50482394	8646589	85	7505											
SNRPB	6628	broad.mit.edu	37	chr20	2443804	2443804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtgggtactgggttggagCcccggcaatactggctgtgg	6	9	18	8	1	0	0	0	0	0	0	0	1	0	1	2	7	3	4	2	7	3	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr20:2443804C>A	ENST00000339610.6	-	6	708	c.253G>T	c.(253-255)Gct>Tct	p.A85S	SNRPB_ENST00000381342.2_Missense_Mutation_p.A164S|SNRPB_ENST00000438552.2_Missense_Mutation_p.A164S			P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	164					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TGGGTTGGAGCCCCGGCAATA	0.592													66	154					1.59627e-33	1.84988e-33	1	0	A	2443804	C	A	2443804	3	1	39	1	0	0	0	0	1	0	0	0	14949	739	26	4	259	4	SNRPB	20	2443804	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08		2443804	60581716	86	7506											
RPN2	6185	broad.mit.edu	37	chr20	35827572	35827572	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttggccttcccttggcatcCcaagaagcactcagtgccct	7	11	8	15	0	1	1	1	0	0	1	3	1	3	1	4	2	2	2	4	2	2	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr20:35827572C>T	ENST00000237530.6	+	4	734	c.423C>T	c.(421-423)tcC>tcT	p.S141S	RPN2_ENST00000373622.5_Silent_p.S109S	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	141					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CCTTGGCATCCCAAGAAGCAC	0.527													11	254					0	0	0	0	T	35827572	C	T	35827572	2	4	39	1	0	0	0	0	0	0	0	1	13693	610	22	4		4	RPN2	20	35827572	Silent	SNP	C	TCGA-BB-4225-01A-01D-1434-08	33383768	35827572	27197948	87	7507											
GNAS	2778	broad.mit.edu	37	chr20	57428501	57428501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaacgagcccatccccGtcgagaatgatggcgaggcc	10	5	11	15	4	1	2	1	1	0	1	3	5	2	2	4	2	2	0	4	2	2	0			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr20:57428501G>A	ENST00000371100.4	+	1	733	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.V61I|GNAS_ENST00000371099.2_Missense_Mutation_p.V61I|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCCATCCCCGTCGAGAATGA	0.642			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			10	39					0	0	0	0	A	57428501	G	A	57428501	3	1	39	1	0	0	0	0	1	0	0	0	6561	1145	40	1	925	1	GNAS	20	57428501	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08	21600929	57428501	5597019	88	7508											
SIK1	150094	broad.mit.edu	37	chr21	44841623	44841623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacggccgacaggatttGccagaacttcttccgcgcct	7	9	9	16	4	1	1	0	0	1	1	3	3	3	2	5	2	2	0	5	2	1	3			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr21:44841623G>T	ENST00000270162.6	-	5	526	c.394C>A	c.(394-396)Caa>Aaa	p.Q132K		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	132	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GACAGGATTTGCCAGAACTTC	0.552													15	36					2.32078e-09	2.64016e-09	1	0	T	44841623	G	T	44841623	3	4	39	1	0	0	0	0	1	0	0	0	14405	1328	46	4	1997	4	SIK1	21	44841623	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08		44841623	3288272	89	7509											
GRAMD4	23151	broad.mit.edu	37	chr22	47062766	47062766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgcccgaagtgtctgagcCcgtggtaagtccctggaggg	6	8	16	11	3	1	1	0	1	1	0	2	3	2	2	3	3	2	1	3	3	2	1			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr22:47062766C>G	ENST00000406902.1	+	10	1067	c.854C>G	c.(853-855)cCc>cGc	p.P285R	GRAMD4_ENST00000361034.3_Missense_Mutation_p.P285R			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	285					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GTGTCTGAGCCCGTGGTAAGT	0.617													3	151					0	0	0	0	G	47062766	C	G	47062766	3	3	39	1	0	0	0	0	1	0	0	0	6802	623	22	4	888	4	GRAMD4	22	47062766	Missense_Mutation	SNP	C	TCGA-BB-4225-01A-01D-1434-08		47062766	4241800	90	7510											
ACR	49	broad.mit.edu	37	chr22	51183225	51183225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctatctgaactggatcGcctccaagattggttctaac	9	11	9	12	1	2	2	0	1	2	1	4	3	3	3	3	3	2	1	3	3	4	4			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chr22:51183225G>A	ENST00000216139.5	+	5	896	c.856G>A	c.(856-858)Gcc>Acc	p.A286T	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	286	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GAACTGGATCGCCTCCAAGAT	0.622													9	12					0	0	0	0	A	51183225	G	A	51183225	3	1	39	1	0	0	0	0	1	0	0	0	169	1087	38	1	874	1	ACR	22	51183225	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08	4120459	51183225	121341	91	7511											
MAGEB10	139422	broad.mit.edu	37	chrX	27840150	27840150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgagcacttcatgtttgggGagcccaggaagctccttacc	8	11	11	11	0	1	1	1	1	0	0	2	3	2	3	3	3	4	3	3	3	2	4			TCGA-BB-4225-01A-01D-1434-08	TCGA-BB-4225-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85fb5611-0dee-4a73-8aa1-1629ad929173	8785ede1-b3db-431b-b0dd-1b96a322cc2c	g.chrX:27840150G>A	ENST00000356790.2	+	3	972	c.727G>A	c.(727-729)Gag>Aag	p.E243K		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	243	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CATGTTTGGGGAGCCCAGGAA	0.453													6	54					0	0	0	0	A	27840150	G	A	27840150	3	1	39	1	0	0	0	0	1	0	0	0	9242	1175	41	2	729	2	MAGEB10	23	27840150	Missense_Mutation	SNP	G	TCGA-BB-4225-01A-01D-1434-08		27840150	127430410	92	7512											
SKI	6497	broad.mit.edu	37	chr1	2160775	2160775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcctgtgcaacgcgctgctCtacggcggcgcctacccgcc	4	6	12	19	7	1	0	0	0	1	0	1	0	1	0	4	2	5	3	4	2	3	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:2160775C>T	ENST00000378536.4	+	1	642	c.570C>T	c.(568-570)ctC>ctT	p.L190L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	190					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		ACGCGCTGCTCTACGGCGGCG	0.692													4	10					0	0	0	0	T	2160775	C	T	2160775	2	4	40	1	0	0	0	0	0	0	0	1	14445	900	32	2		2	SKI	1	2160775	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08		2160775	247089846	1	7513											
SPATA21	374955	broad.mit.edu	37	chr1	16757777	16757777	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgggctcaacaccagccctCtttatggtgatcctcaggcc	8	10	9	14	0	3	1	2	1	1	0	4	1	4	1	4	3	2	1	4	3	2	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:16757777C>G	ENST00000375577.1	-	2	429	c.90G>C	c.(88-90)aaG>aaC	p.K30N	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Intron|SPATA21_ENST00000335496.1_Intron			Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	31							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CACCAGCCCTCTTTATGGTGA	0.562													16	22					0	0	0	0	G	16757777	C	G	16757777	3	3	40	1	0	0	0	0	1	0	0	0	15097	928	32	2		2	SPATA21	1	16757777	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	14597002	16757777	232492844	2	7514											
ASAP3	55616	broad.mit.edu	37	chr1	23759683	23759683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtggctgctcccaggctgGcgacagtctcataggtcttg	5	10	15	11	1	2	0	1	0	2	0	4	1	3	0	1	5	1	3	1	5	1	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:23759683G>A	ENST00000336689.3	-	22	2254	c.2210C>T	c.(2209-2211)gCc>gTc	p.A737V	ASAP3_ENST00000437606.2_Missense_Mutation_p.A728V|ASAP3_ENST00000495646.1_Missense_Mutation_p.A241V|ASAP3_ENST00000484906.1_5'UTR	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	737					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TCCCAGGCTGGCGACAGTCTC	0.602													81	93					0	0	0	0	A	23759683	G	A	23759683	3	1	40	1	0	0	0	0	1	0	0	0	1016	1203	42	4	517	4	ASAP3	1	23759683	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	7001906	23759683	225490938	3	7515											
KIAA1522	57648	broad.mit.edu	37	chr1	33236757	33236757	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctgggtgacaggtttgtCatacctcctcaccccaaggt	7	10	9	15	0	2	1	2	1	0	0	3	1	3	1	6	3	1	1	6	3	2	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:33236757C>G	ENST00000401073.2	+	6	2047	c.1977C>G	c.(1975-1977)gtC>gtG	p.V659V	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.V611V|KIAA1522_ENST00000373480.1_Silent_p.V600V	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	600	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACAGGTTTGTCATACCTCCTC	0.632													80	103					0	0	0	0	G	33236757	C	G	33236757	2	3	40	1	0	0	0	0	0	0	0	1	8289	813	29	2		2	KIAA1522	1	33236757	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	9477074	33236757	216013864	4	7516											
CSMD2	114784	broad.mit.edu	37	chr1	34258100	34258100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcatagcccctctccaaatCaaactcctcaaaggcgagct	12	8	6	15	1	4	0	3	0	1	0	6	1	5	0	4	1	3	1	4	1	4	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:34258100C>G	ENST00000373381.4	-	11	1650	c.1474G>C	c.(1474-1476)Gat>Cat	p.D492H	CSMD2_ENST00000338325.1_Missense_Mutation_p.D100H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	452	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCTCCAAATCAAACTCCTCA	0.552													29	65					0	0	0	0	G	34258100	C	G	34258100	3	3	40	1	0	0	0	0	1	0	0	0	3977	826	29	2	9345	2	CSMD2	1	34258100	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	1021343	34258100	214992521	5	7517											
INPP5B	3633	broad.mit.edu	37	chr1	38339682	38339682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctggcaggaggaagcctCtgctggggttggcattcagc	7	9	15	10	0	2	0	1	0	1	0	2	2	2	2	2	6	4	4	2	6	2	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:38339682C>T	ENST00000373023.2	-	18	2267	c.2174G>A	c.(2173-2175)aGa>aAa	p.R725K	INPP5B_ENST00000373024.3_Missense_Mutation_p.R645K|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373027.1_Missense_Mutation_p.R481K|INPP5B_ENST00000373026.1_Missense_Mutation_p.R725K	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	725					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GAGGAAGCCTCTGCTGGGGTT	0.438													18	18					0	0	0	0	T	38339682	C	T	38339682	3	4	40	1	0	0	0	0	1	0	0	0	7808	913	32	2	835	2	INPP5B	1	38339682	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	4081582	38339682	210910939	6	7518											
RLF	6018	broad.mit.edu	37	chr1	40627251	40627251	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcagctggagacagagctGagggagcaagaggtgtcgga	11	5	19	6	1	0	4	0	1	0	3	1	7	0	6	0	5	3	4	0	5	1	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:40627251G>A	ENST00000372771.4	+	1	207	c.180G>A	c.(178-180)ctG>ctA	p.L60L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	60					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGACAGAGCTGAGGGAGCAAG	0.657													32	43					0	0	0	0	A	40627251	G	A	40627251	2	1	40	1	0	0	0	0	0	0	0	1	13474	1277	45	2		2	RLF	1	40627251	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	2287569	40627251	208623370	7	7519											
COL9A2	1298	broad.mit.edu	37	chr1	40775622	40775622	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggactcacctcgtcacccttCtccccagctcggcctggcgg	4	8	10	19	3	3	0	2	0	1	0	6	1	3	1	5	4	1	1	5	4	0	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:40775622C>G	ENST00000372748.3	-	16	930	c.834G>C	c.(832-834)gaG>gaC	p.E278D		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	278	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CGTCACCCTTCTCCCCAGCTC	0.622													50	81					0	0	0	0	G	40775622	C	G	40775622	3	3	40	1	0	0	0	0	1	0	0	0	3738	912	32	2	1303	2	COL9A2	1	40775622	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	148371	40775622	208474999	8	7520											
TOE1	114034	broad.mit.edu	37	chr1	45808853	45808853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagaggacaagcggcgaCggcgacgacgtagggaaaaa	14	1	17	9	7	0	1	0	0	0	1	0	6	0	3	0	5	1	2	0	5	4	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:45808853C>T	ENST00000372090.5	+	8	1595	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.R258W	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	338						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CAAGCGGCGACGGCGACGACG	0.567													81	129					0	0	0	0	T	45808853	C	T	45808853	3	4	40	1	0	0	0	0	1	0	0	0	16443	527	19	1	1042	1	TOE1	1	45808853	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	5033231	45808853	203441768	9	7521											
PARS2	25973	broad.mit.edu	37	chr1	55224213	55224213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggagtcaaaggtgtacatatCcttcatgtaaaactctcggc	12	11	9	9	1	3	0	2	0	1	0	5	1	4	1	1	3	2	2	1	3	5	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:55224213C>G	ENST00000371279.3	-	2	704	c.622G>C	c.(622-624)Gat>Cat	p.D208H		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	208					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	GTGTACATATCCTTCATGTAA	0.552													54	56					0	0	0	0	G	55224213	C	G	55224213	3	3	40	1	0	0	0	0	1	0	0	0	11538	855	30	2	809	2	PARS2	1	55224213	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	9415360	55224213	194026408	10	7522											
SGIP1	84251	broad.mit.edu	37	chr1	67109271	67109271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcaagtgaatcggaagaaGaagaagaatcacataagaaa	21	6	9	5	1	2	6	2	1	0	5	3	7	2	7	0	1	0	0	0	1	9	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:67109271G>A	ENST00000371037.4	+	7	405	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	SGIP1_ENST00000371039.1_Missense_Mutation_p.E86K|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371036.3_Missense_Mutation_p.E85K|SGIP1_ENST00000237247.6_Missense_Mutation_p.E114K|SGIP1_ENST00000371035.3_Missense_Mutation_p.E67K	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	110	Poly-Glu.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATCGGAAGAAGAAGAAGAATC	0.343													22	39					0	0	0	0	A	67109271	G	A	67109271	3	1	40	1	0	0	0	0	1	0	0	0	14293	943	33	2	354	2	SGIP1	1	67109271	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	11885058	67109271	182141350	11	7523											
ODF2L	57489	broad.mit.edu	37	chr1	86818601	86818601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttctttctaagctcagtttCcagatctaatattttaattt	10	21	3	7	0	4	1	1	0	3	1	5	1	5	1	1	0	1	2	1	0	4	9	rs149282656	byFrequency	TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:86818601C>G	ENST00000359242.3	-	17	2115	c.1834G>C	c.(1834-1836)Gaa>Caa	p.E612Q	ODF2L_ENST00000370567.1_Missense_Mutation_p.E583Q|ODF2L_ENST00000317336.7_Missense_Mutation_p.E612Q|ODF2L_ENST00000370566.3_Missense_Mutation_p.E530Q|ODF2L_ENST00000394731.1_Missense_Mutation_p.E452Q|ODF2L_ENST00000294678.2_Missense_Mutation_p.E596Q	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	612						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		AGCTCAGTTTCCAGATCTAAT	0.279													23	31					0	0	0	0	G	86818601	C	G	86818601	3	3	40	1	0	0	0	0	1	0	0	0	10899	864	30	2	217	2	ODF2L	1	86818601	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	19709330	86818601	162432020	12	7524											
PROK1	84432	broad.mit.edu	37	chr1	110998955	110998955	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccgctgctccatggacttGaagaacatcaatttttaggc	11	12	8	10	1	1	2	1	1	0	1	2	3	2	3	2	2	3	2	2	2	5	5	rs148436202		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:110998955G>C	ENST00000271331.3	+	3	317	c.300G>C	c.(298-300)ttG>ttC	p.L100F		NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	100					angiogenesis|positive regulation of cell division	extracellular region	growth factor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCATGGACTTGAAGAACATCA	0.537													9	94					0	0	0	0	C	110998955	G	C	110998955	3	2	40	1	0	0	0	0	1	0	0	0	12630	1281	45	2	310	2	PROK1	1	110998955	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	24180354	110998955	138251666	13	7525											
FAM19A3	284467	broad.mit.edu	37	chr1	113265703	113265703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcaaccggaaccgcatcGaggagcgctcccagacggtg	9	4	14	14	5	0	1	0	0	0	1	2	4	1	3	3	3	4	4	3	3	2	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:113265703G>A	ENST00000369630.3	+	3	398	c.181G>A	c.(181-183)Gag>Aag	p.E61K	FAM19A3_ENST00000361886.3_Missense_Mutation_p.E61K			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	61						extracellular region		p.N56_R63delNRNRIEER(1)		lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAACCGCATCGAGGAGCGCTC	0.657													16	22					0	0	0	0	A	113265703	G	A	113265703	3	1	40	1	0	0	0	0	1	0	0	0	5576	1059	37	1	187	1	FAM19A3	1	113265703	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	2266748	113265703	135984918	14	7526											
CSDE1	7812	broad.mit.edu	37	chr1	115275262	115275262	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtgaactgaaatgtatttGacagaacttctatattggtt	13	16	8	4	0	1	4	0	3	1	1	1	4	1	4	0	1	2	2	0	1	7	8			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:115275262G>C	ENST00000438362.2	-	10	1529	c.1151C>G	c.(1150-1152)tCa>tGa	p.S384*	CSDE1_ENST00000339438.6_Nonsense_Mutation_p.S307*|CSDE1_ENST00000358528.4_Nonsense_Mutation_p.S338*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.S307*|CSDE1_ENST00000534699.1_Nonsense_Mutation_p.S338*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.S208*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.S353*	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	338	CSD 5.			IKCVDRDVRMFFHFSEILDGNQL -> HPSVWIRECSVCSF PLPVKFWMGTSS (in Ref. 2; AAD27787).	male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		AAATGTATTTGACAGAACTTC	0.373													13	108					0	0	0	0	C	115275262	G	C	115275262	4	2	40	1	0	0	0	0	0	1	0	0	3961	1294	45	2	1427	2	CSDE1	1	115275262	Nonsense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	2009559	115275262	133975359	15	7527											
CD101	9398	broad.mit.edu	37	chr1	117554213	117554213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaccatgagttctcagactCtcggtaaggaggaaggtgag	11	8	13	9	1	2	3	1	2	2	1	4	5	2	5	2	4	0	2	2	4	2	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:117554213C>G	ENST00000256652.4	+	3	524	c.466C>G	c.(466-468)Ctc>Gtc	p.L156V	CD101_ENST00000369470.1_Missense_Mutation_p.L156V	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	156	Ig-like C2-type 2.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTCTCAGACTCTCGGTAAGGA	0.512													39	73					0	0	0	0	G	117554213	C	G	117554213	3	3	40	1	0	0	0	0	1	0	0	0	2991	913	32	2	476	2	CD101	1	117554213	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	2278951	117554213	131696408	16	7528											
FAM46C	54855	broad.mit.edu	37	chr1	118165574	118165574	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttagccggctgcatgaggtCctcactgaagttgtacctat	8	12	11	10	1	1	2	1	2	0	0	2	2	2	2	3	2	3	5	3	2	4	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:118165574C>A	ENST00000369448.3	+	2	331	c.84C>A	c.(82-84)gtC>gtA	p.V28V		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	28										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		TGCATGAGGTCCTCACTGAAG	0.557			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			14	64					1.49906e-05	1.53612e-05	1	0	A	118165574	C	A	118165574	2	1	40	1	0	0	0	0	0	0	0	1	5614	842	30	2		2	FAM46C	1	118165574	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	611361	118165574	131085047	17	7529											
ZNF697	90874	broad.mit.edu	37	chr1	120165544	120165544	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagcgtggagaagtcgctGaagcgcttctcgcactggcc	7	8	15	11	4	1	3	0	2	1	1	3	4	1	3	1	2	2	3	1	2	2	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:120165544G>A	ENST00000421812.2	-	3	1541	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		AGAAGTCGCTGAAGCGCTTCT	0.647													14	9					0	0	0	0	A	120165544	G	A	120165544	2	1	40	1	0	0	0	0	0	0	0	1	18195	1281	45	2		2	ZNF697	1	120165544	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	1999970	120165544	129085077	18	7530											
PIAS3	10401	broad.mit.edu	37	chr1	145581457	145581457	+	Silent	SNP	G	G	T																															gccctcacctgcgcccacctGcagagcttcgatgctgccct																										TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:145581457G>T	ENST00000393045.2	+	9	1128	c.1038G>T	c.(1036-1038)ctG>ctT	p.L346L	PIAS3_ENST00000369298.1_Silent_p.L311L	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	346					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGCCCACCTGCAGAGCTTCG	0.507													90	73					2.01383e-38	2.17727e-38	1	0	T	145581457	G	T	145581457	2	4	40	1	0	0	0	0	0	0	0	1	11949	1306	46	4		4	PIAS3	1	145581457	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	25415913	145581457	103669164	19	7531	65	2									
PIAS3	10401	broad.mit.edu	37	chr1	145581458	145581458	+	Nonsense_Mutation	SNP	C	C	T																															ccctcacctgcgcccacctgCagagcttcgatgctgccctt																										TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:145581458C>T	ENST00000393045.2	+	9	1129	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*	PIAS3_ENST00000369298.1_Nonsense_Mutation_p.Q312*	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	347					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGCCCACCTGCAGAGCTTCGA	0.507													89	74					0	0	0	0	T	145581458	C	T	145581458	4	4	40	1	0	0	0	0	0	1	0	0	11949	711	25	4	1073	4	PIAS3	1	145581458	Nonsense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	1	145581458	103669163	20	7532	65	2									
ADAMTSL4	54507	broad.mit.edu	37	chr1	150525982	150525982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgccactgcaccggaaccGcaggcaccctcggagcccac	9	4	10	18	3	0	0	0	0	0	0	1	2	0	2	5	3	4	3	5	3	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:150525982G>A	ENST00000271643.4	+	6	751	c.515G>A	c.(514-516)cGc>cAc	p.R172H	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R172H|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R172H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R172H	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	172					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CACCGGAACCGCAGGCACCCT	0.577													5	153					0	0	0	0	A	150525982	G	A	150525982	3	1	40	1	0	0	0	0	1	0	0	0	277	1087	38	1	529	1	ADAMTSL4	1	150525982	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	4944524	150525982	98724639	21	7533											
FAM63A	55793	broad.mit.edu	37	chr1	150972984	150972984	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtatgcctagcaggtcaaaGacactgcactcgggtgtata	11	9	12	9	1	1	1	1	0	0	1	2	1	1	1	1	3	3	4	1	3	5	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:150972984G>C	ENST00000361936.5	-	6	1638	c.684C>G	c.(682-684)gtC>gtG	p.V228V	FAM63A_ENST00000312210.5_Silent_p.V86V|FAM63A_ENST00000361738.6_Silent_p.V276V|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_Silent_p.V133V	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	228							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCAGGTCAAAGACACTGCACT	0.527													45	112					0	0	0	0	C	150972984	G	C	150972984	2	2	40	1	0	0	0	0	0	0	0	1	5642	929	33	2		2	FAM63A	1	150972984	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	447002	150972984	98277637	22	7534											
FLG2	388698	broad.mit.edu	37	chr1	152327320	152327320	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagccagaggattttcctGagcctgactcatgttgtcca	10	11	9	11	0	1	3	1	2	0	1	3	4	3	4	4	1	2	1	4	1	1	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:152327320G>C	ENST00000388718.5	-	3	3014	c.2942C>G	c.(2941-2943)tCa>tGa	p.S981*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	981	Ser-rich.						calcium ion binding|structural molecule activity	p.S981*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATTTTCCTGAGCCTGACTC	0.493													12	592					0	0	0	0	C	152327320	G	C	152327320	4	2	40	1	0	0	0	0	0	1	0	0	5968	1294	45	2	4237	2	FLG2	1	152327320	Nonsense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	1354336	152327320	96923301	23	7535											
S100A4	6275	broad.mit.edu	37	chr1	153516241	153516241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcagaggagttttcatttCttcctgggctgcttatctgg	6	16	10	9	0	4	1	2	0	2	1	5	2	5	2	1	3	1	3	1	3	1	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:153516241C>G	ENST00000368716.4	-	3	447	c.300G>C	c.(298-300)aaG>aaC	p.K100N	S100A4_ENST00000368714.1_Missense_Mutation_p.K100N|S100A4_ENST00000354332.4_Missense_Mutation_p.K100N|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368715.1_Missense_Mutation_p.K100N	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	100					epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTTTTCATTTCTTCCTGGGCT	0.527													85	274					0	0	0	0	G	153516241	C	G	153516241	3	3	40	1	0	0	0	0	1	0	0	0	13865	912	32	2	9	2	S100A4	1	153516241	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	1188921	153516241	95734380	24	7536											
NPR1	4881	broad.mit.edu	37	chr1	153665640	153665640	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggaggagtttggtggtttCgagctggagcttcgagggga	6	11	19	5	2	0	0	0	0	0	0	2	6	0	4	0	7	2	4	0	7	0	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:153665640C>G	ENST00000368680.3	+	21	3562	c.3090C>G	c.(3088-3090)ttC>ttG	p.F1030L		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	1030					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TTGGTGGTTTCGAGCTGGAGC	0.552													41	112					0	0	0	0	G	153665640	C	G	153665640	3	3	40	1	0	0	0	0	1	0	0	0	10665	883	31	3	3172	3	NPR1	1	153665640	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	149399	153665640	95584981	25	7537											
DCST2	127579	broad.mit.edu	37	chr1	155002952	155002952	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggcgtggtgaagcccatCagagccagggcctctcggac	9	5	15	12	2	2	3	1	1	1	2	3	4	2	4	3	4	2	0	3	4	1	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:155002952C>G	ENST00000368424.3	-	6	1033	c.975G>C	c.(973-975)ctG>ctC	p.L325L	DCST2_ENST00000295536.5_Silent_p.L325L	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	325						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGAAGCCCATCAGAGCCAGGG	0.662													5	69					0	0	0	0	G	155002952	C	G	155002952	2	3	40	1	0	0	0	0	0	0	0	1	4335	813	29	2		2	DCST2	1	155002952	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	1337312	155002952	94247669	26	7538											
BCAN	63827	broad.mit.edu	37	chr1	156626846	156626846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccggatgtacggcgcgcatCtggccagcatcagcacaccc	8	5	12	16	4	2	0	1	0	1	0	2	1	2	1	3	3	3	4	3	3	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:156626846C>G	ENST00000329117.4	+	10	2503	c.2167C>G	c.(2167-2169)Ctg>Gtg	p.L723V	BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	723	C-type lectin.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGGCGCGCATCTGGCCAGCAT	0.637													29	86					0	0	0	0	G	156626846	C	G	156626846	3	3	40	1	0	0	0	0	1	0	0	0	1349	912	32	2	2275	2	BCAN	1	156626846	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	1623894	156626846	92623775	27	7539											
HDGF	3068	broad.mit.edu	37	chr1	156713644	156713648	+	Frame_Shift_Del	DEL	TGCCT	TGCCT	-																															tcctctccttcagggttttcTgcctccttgggacgtttagg																										TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:156713644_156713648delTGCCT	ENST00000357325.5	-	5	826_830	c.512_516delAGGCA	c.(511-516)gfs	p.EA171fs	HDGF_ENST00000416666.2_Frame_Shift_Del_p.EA139fs|HDGF_ENST00000537739.1_Frame_Shift_Del_p.EA171fs|HDGF_ENST00000368206.5_Frame_Shift_Del_p.EA187fs|HDGF_ENST00000368209.5_Frame_Shift_Del_p.EA164fs|HDGF_ENST00000465180.1_5'UTR	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	171	Glu-rich.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CAGGGTTTTCTGCCTCCTTGGGACG	0.605													20	60	---	---	---	---					-	156713648	TGCCT	-	156713644	7	5	40	1	0	1	0	1	0	0	0	0	7068	1567	55	0	214	0	HDGF	1	156713644	Frame_Shift_Del	DEL	TGCCT	TCGA-BB-4227-01A-01D-1870-08	86798	156713644	92536977	28	7540											
OR6N1	128372	broad.mit.edu	37	chr1	158735618	158735618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctgtagatgaaggggttGaggaagggtgtgagcactga	12	8	18	3	0	0	5	0	4	0	1	0	6	0	6	0	4	2	4	0	4	4	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:158735618G>A	ENST00000335094.2	-	1	874	c.855C>T	c.(853-855)ctC>ctT	p.L285L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGAAGGGGTTGAGGAAGGGTG	0.517													72	200					0	0	0	0	A	158735618	G	A	158735618	2	1	40	1	0	0	0	0	0	0	0	1	11277	1277	45	2		2	OR6N1	1	158735618	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	2021974	158735618	90515003	29	7541											
TBX19	9095	broad.mit.edu	37	chr1	168281973	168281973	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcctgtggaccatcagCaatggtgccggaggccccag	7	6	14	14	2	1	0	1	0	0	0	1	2	1	2	6	4	3	1	6	4	1	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:168281973C>T	ENST00000367821.3	+	8	1131	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	360					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GGACCATCAGCAATGGTGCCG	0.617													35	83					0	0	0	0	T	168281973	C	T	168281973	2	4	40	1	0	0	0	0	0	0	0	1	15748	709	25	4		4	TBX19	1	168281973	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	9546355	168281973	80968648	30	7542											
ABL2	27	broad.mit.edu	37	chr1	179095631	179095631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaagctgccattgattaGactgctgagcagatactcag	12	9	11	9	0	1	4	1	2	0	2	1	5	1	5	1	1	5	3	1	1	3	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:179095631G>A	ENST00000502732.1	-	4	771	c.568C>T	c.(568-570)Cta>Tta	p.L190L	ABL2_ENST00000504405.1_Silent_p.L154L|ABL2_ENST00000507173.1_Silent_p.L169L|ABL2_ENST00000367623.4_Silent_p.L169L|ABL2_ENST00000408940.3_Silent_p.L154L|ABL2_ENST00000392043.3_Silent_p.L169L|ABL2_ENST00000511413.1_Silent_p.L190L|ABL2_ENST00000344730.3_Silent_p.L175L|ABL2_ENST00000512653.1_Silent_p.L175L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	190	SH2.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCATTGATTAGACTGCTGAGC	0.537			T	ETV6	AML								48	140					0	0	0	0	A	179095631	G	A	179095631	2	1	40	1	0	0	0	0	0	0	0	1	93	933	33	2		2	ABL2	1	179095631	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	10813658	179095631	70154990	31	7543											
KLHL12	59349	broad.mit.edu	37	chr1	202864773	202864773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actaaggcgggaacggccatCatagccaccaatgacgtaga	14	5	11	11	3	1	2	1	1	0	1	1	3	1	3	3	3	2	1	3	3	5	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:202864773C>T	ENST00000367261.3	-	8	1230	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	KLHL12_ENST00000435533.3_Missense_Mutation_p.D376N|KLHL12_ENST00000367259.1_Missense_Mutation_p.D71N	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	338					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAACGGCCATCATAGCCACCA	0.507													24	69					0	0	0	0	T	202864773	C	T	202864773	3	4	40	1	0	0	0	0	1	0	0	0	8420	826	29	2	714	2	KLHL12	1	202864773	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	23769142	202864773	46385848	32	7544											
MYBPH	4608	broad.mit.edu	37	chr1	203144777	203144777	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcttctctggtggactctGatactgccacttctccggga	5	13	10	13	1	4	1	0	1	4	0	6	3	4	3	2	3	2	1	2	3	1	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:203144777G>C	ENST00000255416.4	-	1	164	c.107C>G	c.(106-108)tCa>tGa	p.S36*		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	36					cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGTGGACTCTGATACTGCCAC	0.622													85	218					0	0	0	0	C	203144777	G	C	203144777	4	2	40	1	0	0	0	0	0	1	0	0	10084	1294	45	2	1366	2	MYBPH	1	203144777	Nonsense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	280004	203144777	46105844	33	7545											
FLVCR1	28982	broad.mit.edu	37	chr1	213032530	213032530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaccgccgtgctgggcaatCaggtaagtactggagtggta	9	8	14	10	2	1	0	1	0	0	0	1	1	1	1	3	4	2	5	3	4	4	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:213032530C>G	ENST00000366971.4	+	1	934	c.736C>G	c.(736-738)Cag>Gag	p.Q246E		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	246					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GCTGGGCAATCAGGTAAGTAC	0.562													40	112					0	0	0	0	G	213032530	C	G	213032530	3	3	40	1	0	0	0	0	1	0	0	0	5990	827	29	2	738	2	FLVCR1	1	213032530	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	9887753	213032530	36218091	34	7546											
HHIPL2	79802	broad.mit.edu	37	chr1	222721362	222721362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaatgcagaccaccacacaGattaggagtggacgttctca	13	7	10	11	1	1	2	1	0	1	2	2	4	1	4	2	2	1	3	2	2	2	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:222721362G>C	ENST00000343410.6	-	1	83	c.25C>G	c.(25-27)Ctg>Gtg	p.L9V		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	9					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCACCACACAGATTAGGAGTG	0.582													23	47					0	0	0	0	C	222721362	G	C	222721362	3	2	40	1	0	0	0	0	1	0	0	0	7144	933	33	2	2185	2	HHIPL2	1	222721362	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	9688832	222721362	26529259	35	7547											
PARP1	142	broad.mit.edu	37	chr1	226567800	226567800	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgtcctggaggaagtcctCagacacaactcggatgttgg	10	8	13	10	2	1	1	1	0	0	1	4	5	3	4	2	4	1	1	2	4	2	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:226567800C>G	ENST00000366794.5	-	10	1509	c.1366G>C	c.(1366-1368)Gag>Cag	p.E456Q		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	456	Automodification domain.|BRCT.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AGGAAGTCCTCAGACACAACT	0.488								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					18	48					0	0	0	0	G	226567800	C	G	226567800	3	3	40	1	0	0	0	0	1	0	0	0	11525	835	29	2	1734	2	PARP1	1	226567800	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	3846438	226567800	22682821	36	7548											
WNT9A	7483	broad.mit.edu	37	chr1	228113207	228113207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggaggatggtcaggggctCgctgcccgtcagcctgggca	5	6	18	12	3	2	0	2	0	0	0	3	2	2	2	2	6	2	3	2	6	0	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:228113207C>T	ENST00000272164.5	-	2	119	c.109G>A	c.(109-111)Gag>Aag	p.E37K	WNT9A_ENST00000497852.1_5'UTR	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	37					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GTCAGGGGCTCGCTGCCCGTC	0.711													7	10					0	0	0	0	T	228113207	C	T	228113207	3	4	40	1	0	0	0	0	1	0	0	0	17494	893	31	1	1000	1	WNT9A	1	228113207	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	1545407	228113207	21137414	37	7549											
LYST	1130	broad.mit.edu	37	chr1	235964315	235964327	+	Frame_Shift_Del	DEL	TTCCCCTTGAGTG	TTCCCCTTGAGTG	-																															caaatctcaggataaattatTtccccttgagtgaggttttc																										TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:235964315_235964327delTTCCCCTTGAGTG	ENST00000389794.3	-	9	3957_3969	c.3783_3795delCACTCAAGGGGAA	c.(3781-3795)ctfs	p.LTQGE1261fs	LYST_ENST00000389793.2_Frame_Shift_Del_p.LTQGE1261fs|LYST_ENST00000536965.1_Frame_Shift_Del_p.LTQGE1261fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1261					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GATAAATTATTTCCCCTTGAGTGAGGTTTTCGA	0.366													20	139	---	---	---	---					-	235964327	TTCCCCTTGAGTG	-	235964315	7	5	40	1	0	1	0	1	0	0	0	0	9193	1838	64	0	7790	0	LYST	1	235964315	Frame_Shift_Del	DEL	TTCCCCTTGAGTG	TCGA-BB-4227-01A-01D-1870-08	7851108	235964315	13286306	38	7550											
OR14A16	284532	broad.mit.edu	37	chr1	247978846	247978846	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatccaagaaagatagattCttcaagaagaaatacacggg	19	7	9	6	1	2	6	1	0	1	6	3	6	3	6	1	1	1	0	1	1	7	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:247978846C>T	ENST00000357627.1	-	1	185	c.186G>A	c.(184-186)aaG>aaA	p.K62K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAGATAGATTCTTCAAGAAGA	0.418													23	62					0	0	0	0	T	247978846	C	T	247978846	2	4	40	1	0	0	0	0	0	0	0	1	11016	912	32	2		2	OR14A16	1	247978846	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	12014531	247978846	1271775	39	7551											
LPIN1	23175	broad.mit.edu	37	chr2	11955216	11955216	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttttatgtctttcaggaAtggatataaatttctctact	11	19	6	5	0	3	0	1	0	2	0	4	2	3	2	0	2	1	1	0	2	6	7			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:11955216A>G	ENST00000256720.2	+	17	2237	c.2144A>G	c.(2143-2145)aAt>aGt	p.N715S	LPIN1_ENST00000449576.2_Missense_Mutation_p.N800S|LPIN1_ENST00000396099.1_Missense_Mutation_p.N757S|LPIN1_ENST00000425416.2_Missense_Mutation_p.N721S|LPIN1_ENST00000396097.1_Missense_Mutation_p.N445S|LPIN1_ENST00000404113.2_Missense_Mutation_p.N216S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	715	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCTTTCAGGAATGGATATAAA	0.488													18	36					0	0	0	0	G	11955216	A	G	11955216	3	3	40	1	0	0	0	0	1	0	0	0	8982	101	4	5	2206	5	LPIN1	2	11955216	Missense_Mutation	SNP	A	TCGA-BB-4227-01A-01D-1870-08		11955216	231244157	40	7552											
WDR35	57539	broad.mit.edu	37	chr2	20113939	20113939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagtttaatgaaagcttttGaacaagtcccaaaggctctg	14	12	8	7	0	1	2	0	2	1	0	2	2	2	2	1	1	2	3	1	1	6	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:20113939G>A	ENST00000345530.3	-	27	3369	c.3254C>T	c.(3253-3255)tCa>tTa	p.S1085L	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.S1074L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1085										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAGCTTTTGAACAAGTCCC	0.433													30	53					0	0	0	0	A	20113939	G	A	20113939	3	1	40	1	0	0	0	0	1	0	0	0	17385	1294	45	2	299	2	WDR35	2	20113939	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	8158723	20113939	223085434	41	7553											
APOB	338	broad.mit.edu	37	chr2	21232316	21232316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagatacactgcaactgtgGccttggtttcctctaaaaac	11	11	7	12	0	1	1	0	0	1	1	2	1	2	1	3	2	4	2	3	2	5	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:21232316G>T	ENST00000233242.1	-	26	7551	c.7424C>A	c.(7423-7425)gCc>gAc	p.A2475D		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2475					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCAACTGTGGCCTTGGTTTC	0.418													26	107					2.65835e-16	2.84116e-16	1	0	T	21232316	G	T	21232316	3	4	40	1	0	0	0	0	1	0	0	0	787	1203	42	4	6283	4	APOB	2	21232316	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	1118377	21232316	221967057	42	7554											
NLRC4	58484	broad.mit.edu	37	chr2	32476577	32476577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcaatatcttcaccaaggGgataaaagttcagaaaagat	17	10	8	6	0	4	2	3	0	1	2	4	3	4	3	1	2	0	1	1	2	7	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:32476577G>A	ENST00000404025.2	-	5	844	c.356C>T	c.(355-357)cCc>cTc	p.P119L	NLRC4_ENST00000402280.1_Missense_Mutation_p.P119L|NLRC4_ENST00000360906.5_Missense_Mutation_p.P119L|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	119					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCACCAAGGGGATAAAAGTT	0.433													27	40					0	0	0	0	A	32476577	G	A	32476577	3	1	40	1	0	0	0	0	1	0	0	0	10539	1232	43	4	2742	4	NLRC4	2	32476577	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	11244261	32476577	210722796	43	7555											
NLRC4	58484	broad.mit.edu	37	chr2	32476659	32476659	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagtctccttctgatgtctGatgaaaaagacctattagag	13	12	8	8	0	3	5	0	3	3	2	4	5	3	5	2	0	0	0	2	0	5	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:32476659G>C	ENST00000404025.2	-	5	762	c.274C>G	c.(274-276)Cag>Gag	p.Q92E	NLRC4_ENST00000402280.1_Missense_Mutation_p.Q92E|NLRC4_ENST00000360906.5_Missense_Mutation_p.Q92E|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	92					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCTGATGTCTGATGAAAAAGA	0.433													25	48					0	0	0	0	C	32476659	G	C	32476659	3	2	40	1	0	0	0	0	1	0	0	0	10539	1299	45	2	2824	2	NLRC4	2	32476659	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	82	32476659	210722714	44	7556											
TTC27	55622	broad.mit.edu	37	chr2	32983539	32983539	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcggaacaaggagtttcaaGagtgtgtagagtgcttcgaa	12	11	13	5	2	1	2	1	0	0	2	3	5	1	4	0	2	2	3	0	2	5	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:32983539G>C	ENST00000317907.4	+	13	1864	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	545							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GGAGTTTCAAGAGTGTGTAGA	0.522													34	60					0	0	0	0	C	32983539	G	C	32983539	3	2	40	1	0	0	0	0	1	0	0	0	16791	943	33	2	1683	2	TTC27	2	32983539	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	506880	32983539	210215834	45	7557											
GALM	130589	broad.mit.edu	37	chr2	38893363	38893363	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgggaggagggacagtggaGaagttccagctgcagtcaga	11	6	17	7	1	1	2	1	0	0	2	3	6	2	5	1	4	2	3	1	4	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:38893363G>A	ENST00000272252.5	+	1	312	c.60G>A	c.(58-60)gaG>gaA	p.E20E	GALM_ENST00000410063.1_Silent_p.E20E	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	20					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	p.E20E(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				GGACAGTGGAGAAGTTCCAGC	0.597													15	42					0	0	0	0	A	38893363	G	A	38893363	2	1	40	1	0	0	0	0	0	0	0	1	6254	933	33	2		2	GALM	2	38893363	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	5909824	38893363	204306010	46	7558											
FAM161A	84140	broad.mit.edu	37	chr2	62067353	62067353	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgctttatgtaccatttcGatatctgatttagatttcat	10	18	6	7	2	2	2	1	1	1	1	3	3	2	2	1	0	2	2	1	0	4	8			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:62067353G>A	ENST00000404929.1	-	3	797	c.786C>T	c.(784-786)atC>atT	p.I262I	FAM161A_ENST00000405894.3_Silent_p.I262I	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	262					response to stimulus|visual perception	centrosome		p.I153I(1)|p.I262I(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTACCATTTCGATATCTGATT	0.393													37	69					0	0	0	0	A	62067353	G	A	62067353	2	1	40	1	0	0	0	0	0	0	0	1	5513	1048	37	1		1	FAM161A	2	62067353	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	23173990	62067353	181132020	47	7559											
CD8B	926	broad.mit.edu	37	chr2	87085532	87085533	+	Frame_Shift_Ins	INS	-	-	T																															gctggaggactgagttgccaINStggagaactaggaaaagcca																								rs137953763	byFrequency	TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:87085532_87085533insT	ENST00000390655.6	-	2	108_109	c.50_51insA	c.(49-51)cggfs	p.R17fs	CD8B_ENST00000393759.2_Frame_Shift_Ins_p.R17fs|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393761.2_Frame_Shift_Ins_p.R17fs|CD8B_ENST00000349455.3_Frame_Shift_Ins_p.R17fs|CD8B_ENST00000331469.2_Frame_Shift_Ins_p.R17fs	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	17					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CTGAGTTGCCATGGAGAACTAG	0.49													22	39	---	---	---	---					T	87085533	-	T	87085532	7	5	40	1	0	1	1	0	0	0	0	0	3074	214	8	0	875	0	CD8B	2	87085532	Frame_Shift_Ins	INS	-	TCGA-BB-4227-01A-01D-1870-08	25018179	87085532	156113841	48	7560											
TRIM43	129868	broad.mit.edu	37	chr2	96260159	96260159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcacaaacaccatcccatcGaagaggcagctgaggaacac	15	4	8	14	1	1	2	1	1	0	1	3	4	2	3	2	2	3	2	2	2	3	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:96260159G>C	ENST00000272395.2	+	2	524	c.388G>C	c.(388-390)Gaa>Caa	p.E130Q		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	130						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCATCCCATCGAAGAGGCAGC	0.488													37	53					0	0	0	0	C	96260159	G	C	96260159	3	2	40	1	0	0	0	0	1	0	0	0	16613	1059	37	3	390	3	TRIM43	2	96260159	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	9174627	96260159	146939214	49	7561											
FAHD2B	151313	broad.mit.edu	37	chr2	97749505	97749505	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagccatcacaccaccttgTtgatgatgacacctagttct	10	11	8	12	0	2	3	1	3	1	0	2	4	2	4	4	1	1	2	4	1	1	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:97749505T>C	ENST00000414820.1	-	9	1202	c.932A>G	c.(931-933)aAc>aGc	p.N311S	FAHD2B_ENST00000440566.2_Missense_Mutation_p.N311S|FAHD2B_ENST00000272610.3_Missense_Mutation_p.N311S			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	311							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						CACCACCTTGTTGATGATGAC	0.567													38	88					0	0	0	0	C	97749505	T	C	97749505	3	2	40	1	0	0	0	0	1	0	0	0	5415	1725	60	5	16	5	FAHD2B	2	97749505	Missense_Mutation	SNP	T	TCGA-BB-4227-01A-01D-1870-08	1489346	97749505	145449868	50	7562											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105912815	105912815	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccagttaattacaaacctGaaatttttcctttggaatgt	13	15	6	7	0	0	1	0	1	0	0	1	3	1	2	3	1	2	1	3	1	5	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:105912815G>A	ENST00000393359.2	-	4	1462	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	TGFBRAP1_ENST00000258449.1_Nonsense_Mutation_p.Q346*			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	346					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TTACAAACCTGAAATTTTTCC	0.428													37	74					0	0	0	0	A	105912815	G	A	105912815	4	1	40	1	0	0	0	0	0	1	0	0	15918	1299	45	2	1582	2	TGFBRAP1	2	105912815	Nonsense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	8163310	105912815	137286558	51	7563											
GCC2	9648	broad.mit.edu	37	chr2	109103017	109103017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaaaatccacgagcacctGaaaacctctgcggaacagca	16	4	7	14	2	1	1	0	1	1	0	2	3	2	2	3	1	5	2	3	1	5	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:109103017G>A	ENST00000309863.6	+	16	4557	c.3843G>A	c.(3841-3843)ctG>ctA	p.L1281L		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1281					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACGAGCACCTGAAAACCTCTG	0.473													50	79					0	0	0	0	A	109103017	G	A	109103017	2	1	40	1	0	0	0	0	0	0	0	1	6335	1277	45	2		2	GCC2	2	109103017	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	3190202	109103017	134096356	52	7564											
DBI	1622	broad.mit.edu	37	chr2	120128369	120128369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagtgggatgcctggaatGagctgaaaggtaattgttct	11	11	13	6	0	1	2	0	2	1	0	1	4	1	4	2	3	2	3	2	3	4	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:120128369G>A	ENST00000542275.1	+	3	448	c.364G>A	c.(364-366)Gag>Aag	p.E122K	DBI_ENST00000535757.1_Missense_Mutation_p.E78K|DBI_ENST00000311521.4_Missense_Mutation_p.E78K|DBI_ENST00000355857.3_Missense_Mutation_p.E61K|DBI_ENST00000393103.2_Missense_Mutation_p.E62K|DBI_ENST00000409094.1_Missense_Mutation_p.E78K|DBI_ENST00000535617.1_Missense_Mutation_p.E103K|DBI_ENST00000460901.1_3'UTR	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	61					transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						TGCCTGGAATGAGCTGAAAGG	0.418													14	27					0	0	0	0	A	120128369	G	A	120128369	3	1	40	1	0	0	0	0	1	0	0	0	4284	1291	45	2	497	2	DBI	2	120128369	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	11025352	120128369	123071004	53	7565											
ERCC3	2071	broad.mit.edu	37	chr2	128038127	128038127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttaaatccacaattttgtCatcttcgcggacgagggtcg	10	13	9	9	4	2	0	1	0	1	0	5	2	3	1	1	2	0	0	1	2	3	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:128038127C>G	ENST00000493187.2	-	9	1694	c.1231G>C	c.(1231-1233)Gac>Cac	p.D411H	ERCC3_ENST00000285398.2_Missense_Mutation_p.D475H			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	475	Helicase ATP-binding.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACAATTTTGTCATCTTCGCGG	0.507			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				17	45					0	0	0	0	G	128038127	C	G	128038127	3	3	40	1	0	0	0	0	1	0	0	0	5252	826	29	2	953	2	ERCC3	2	128038127	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	7909758	128038127	115161246	54	7566											
GPR39	2863	broad.mit.edu	37	chr2	133402856	133402856	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgctcctgtacacggtgTcctcgcagcagtttcggcgg	5	9	12	15	5	0	0	0	0	0	0	4	0	2	0	3	3	2	5	3	3	1	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:133402856T>G	ENST00000329321.3	+	2	1508	c.1039T>G	c.(1039-1041)Tcc>Gcc	p.S347A	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	347						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTACACGGTGTCCTCGCAGCA	0.622													23	72					0	0	0	0	G	133402856	T	G	133402856	3	3	40	1	0	0	0	0	1	0	0	0	6742	1667	58	5	1045	5	GPR39	2	133402856	Missense_Mutation	SNP	T	TCGA-BB-4227-01A-01D-1870-08	5364729	133402856	109796517	55	7567											
KYNU	8942	broad.mit.edu	37	chr2	143797996	143797996	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattgtttctcattccacaGatctttaagcaagcgacaat	12	14	6	9	1	2	2	1	1	2	1	4	3	3	2	1	0	2	2	1	0	3	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:143797996G>A	ENST00000264170.4	+	13	1299		c.e13-1		KYNU_ENST00000409512.1_Splice_Site	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase						anthranilate metabolic process|NAD biosynthetic 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)	TCATTCCACAGATCTTTAAGC	0.333													21	50					0	0	0	0	A	143797996	G	A	143797996	5	1	40	1	0	0	0	0	0	0	1	0	8640	956	33	2	1113	2	KYNU	2	143797996	Splice_Site	SNP	G	TCGA-BB-4227-01A-01D-1870-08	10395140	143797996	99401377	56	7568											
ABCB11	8647	broad.mit.edu	37	chr2	169788945	169788945	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgtcggtccagcagttgaAaaaagcgtgcagctgatatt	11	11	12	7	2	0	2	0	2	0	0	2	2	1	2	1	1	4	5	1	1	4	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:169788945A>G	ENST00000263817.6	-	24	3279	c.3155T>C	c.(3154-3156)tTt>tCt	p.F1052S		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1052					bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CAGCAGTTGAAAAAAGCGTGC	0.433													8	10					0	0	0	0	G	169788945	A	G	169788945	3	3	40	1	0	0	0	0	1	0	0	0	42	14	1	5	830	5	ABCB11	2	169788945	Missense_Mutation	SNP	A	TCGA-BB-4227-01A-01D-1870-08	25990949	169788945	73410428	57	7569											
ABCB11	8647	broad.mit.edu	37	chr2	169792772	169792772	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctccagggcctgcttatctcGagaggcaaatcctgtcaaca	10	9	9	13	1	2	1	1	0	1	1	5	2	4	1	3	2	2	2	3	2	3	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:169792772G>C	ENST00000263817.6	-	22	2906	c.2782C>G	c.(2782-2784)Cga>Gga	p.R928G		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	928	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGCTTATCTCGAGAGGCAAAT	0.488													18	29					0	0	0	0	C	169792772	G	C	169792772	3	2	40	1	0	0	0	0	1	0	0	0	42	1066	37	3	1211	3	ABCB11	2	169792772	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	3827	169792772	73406601	58	7570											
PDK1	5163	broad.mit.edu	37	chr2	173429336	173429336	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctttggggtggatcctgtCaccagccagaatgttcagta	9	11	12	9	0	2	1	2	0	0	1	3	2	3	2	3	3	2	3	3	3	2	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:173429336C>G	ENST00000410055.1	+	4	616	c.516C>G	c.(514-516)gtC>gtG	p.V172V	PDK1_ENST00000392571.2_Silent_p.V192V|PDK1_ENST00000282077.2_Silent_p.V172V|PDK1_ENST00000543905.1_Silent_p.V96V|PDK1_ENST00000544863.1_Silent_p.V17V	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	172	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TGGATCCTGTCACCAGCCAGA	0.443									Autosomal Dominant Polycystic Kidney Disease				26	55					0	0	0	0	G	173429336	C	G	173429336	2	3	40	1	0	0	0	0	0	0	0	1	11746	813	29	2		2	PDK1	2	173429336	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	3636564	173429336	69770037	59	7571											
TTC30A	92104	broad.mit.edu	37	chr2	178482268	178482268	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgagtctccgaagctgctCagtcagcatccctgctagcc	7	9	11	14	1	3	1	2	1	1	0	5	2	4	1	3	1	5	4	3	1	2	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:178482268C>G	ENST00000355689.4	-	1	1426	c.1162G>C	c.(1162-1164)Gag>Cag	p.E388Q	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	388					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CGAAGCTGCTCAGTCAGCATC	0.463													99	122					0	0	0	0	G	178482268	C	G	178482268	3	3	40	1	0	0	0	0	1	0	0	0	16794	835	29	2	839	2	TTC30A	2	178482268	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	5052932	178482268	64717105	60	7572											
TTN	7273	broad.mit.edu	37	chr2	179392320	179392320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgcttgcaaatttcatctCagtcatgctgctagcactgc	9	13	7	12	0	3	0	3	0	1	0	4	0	3	0	0	0	6	5	0	0	2	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:179392320C>T	ENST00000589042.1	-	362	107757	c.107533G>A	c.(107533-107535)Gag>Aag	p.E35845K	TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E34204K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E26780K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E33277K|TTN_ENST00000359218.5_Missense_Mutation_p.E26905K|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26972K|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34204							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)			AATTTCATCTCAGTCATGCTG	0.478													36	35					0	0	0	0	T	179392320	C	T	179392320	3	4	40	1	0	0	0	0	1	0	0	0	16831	835	29	2	450	2	TTN	2	179392320	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	910052	179392320	63807053	61	7573											
TTN	7273	broad.mit.edu	37	chr2	179458787	179458787	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgtttggccttgatcttctCtaaagcaagtgttgctggtg	7	15	11	8	1	2	1	0	1	2	0	3	1	2	1	1	2	2	4	1	2	3	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:179458787C>G	ENST00000589042.1	-	297	58557	c.58333G>C	c.(58333-58335)Gag>Cag	p.E19445Q	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E17804Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10380Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16877Q|TTN_ENST00000359218.5_Missense_Mutation_p.E10505Q|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10572Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17804	Fibronectin type-III 41.						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)			TTGATCTTCTCTAAAGCAAGT	0.438													60	112					0	0	0	0	G	179458787	C	G	179458787	3	3	40	1	0	0	0	0	1	0	0	0	16831	922	32	2	49910	2	TTN	2	179458787	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	66467	179458787	63740586	62	7574											
MFSD6	54842	broad.mit.edu	37	chr2	191362379	191362379	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgacctttgtctatgcactCtaccaaattaaagagatgat	13	13	7	8	0	2	3	0	2	2	1	2	4	2	3	2	0	2	1	2	0	5	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:191362379C>G	ENST00000392328.1	+	7	2430	c.2106C>G	c.(2104-2106)ctC>ctG	p.L702L	MFSD6_ENST00000535751.1_Silent_p.L164L|MFSD6_ENST00000281416.7_Silent_p.L702L	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	702					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TCTATGCACTCTACCAAATTA	0.463													33	26					0	0	0	0	G	191362379	C	G	191362379	2	3	40	1	0	0	0	0	0	0	0	1	9604	900	32	2		2	MFSD6	2	191362379	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	11903592	191362379	51836994	63	7575											
RNPEPL1	57140	broad.mit.edu	37	chr2	241517130	241517131	+	Frame_Shift_Del	DEL	AG	AG	-																															ggctgcaccccaacctgcgcAgagccatccagcagatcctg																										TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:241517130_241517131delAG	ENST00000270357.3	+	11	1899_1900	c.1306_1307delAG	c.(1306-1308)afs	p.R436fs		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	436					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CAACCTGCGCAGAGCCATCCAG	0.663													7	7	---	---	---	---					-	241517131	AG	-	241517130	7	5	40	1	0	1	0	1	0	0	0	0	13595	180	7	0	1340	0	RNPEPL1	2	241517130	Frame_Shift_Del	DEL	AG	TCGA-BB-4227-01A-01D-1870-08	50154751	241517130	1682243	64	7576											
TMEM40	55287	broad.mit.edu	37	chr3	12777058	12777058	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactttaaaagttacctgtCagcctaaacttctggaagag	14	11	8	8	0	2	2	1	0	1	2	2	3	2	3	2	1	3	1	2	1	6	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:12777058C>A	ENST00000314124.7	-	11	1034	c.678G>T	c.(676-678)ctG>ctT	p.L226L	TMEM40_ENST00000431022.2_Silent_p.L242L|TMEM40_ENST00000435218.2_Silent_p.L196L|TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000435575.1_Silent_p.L150L|TMEM40_ENST00000264728.8_Silent_p.L226L	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	226						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						AGTTACCTGTCAGCCTAAACT	0.453													7	69					2.74318e-10	2.87417e-10	1	0	A	12777058	C	A	12777058	2	1	40	1	0	0	0	0	0	0	0	1	16257	813	29	2		2	TMEM40	3	12777058	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08		12777058	185245372	65	7577											
FBLN2	2199	broad.mit.edu	37	chr3	13670672	13670672	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccccacagacgtgaatGagtgtgagacaggtgtgcac	11	6	12	12	1	0	4	0	3	0	2	0	5	0	4	3	1	1	1	3	1	1	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:13670672G>T	ENST00000404922.3	+	13	2841	c.2722G>T	c.(2722-2724)Gag>Tag	p.E908*	FBLN2_ENST00000535798.1_Nonsense_Mutation_p.E887*|FBLN2_ENST00000492059.1_Nonsense_Mutation_p.E908*|FBLN2_ENST00000295760.7_Nonsense_Mutation_p.E861*	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	904	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGACGTGAATGAGTGTGAGAC	0.667													16	9					1.33834e-09	1.39441e-09	1	0	T	13670672	G	T	13670672	4	4	40	1	0	0	0	0	0	1	0	0	5744	1291	45	2	1458	2	FBLN2	3	13670672	Nonsense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	893614	13670672	184351758	66	7578											
PRSS50	29122	broad.mit.edu	37	chr3	46759219	46759219	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggactcacctgcagacctCagcaacagaagcagcagcag	14	3	11	13	0	2	2	2	0	0	2	2	3	2	3	2	1	6	5	2	1	2	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:46759219C>G	ENST00000460241.1	-	6	1766	c.96G>C	c.(94-96)ctG>ctC	p.L32L	PRSS50_ENST00000315170.7_Silent_p.L32L			Q9UI38	TSP50_HUMAN	protease, serine, 50	32					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CTGCAGACCTCAGCAACAGAA	0.721													6	2					0	0	0	0	G	46759219	C	G	46759219	2	3	40	1	0	0	0	0	0	0	0	1	12710	813	29	2		2	PRSS50	3	46759219	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	33088547	46759219	151263211	67	7579											
SLMAP	7871	broad.mit.edu	37	chr3	57743444	57743444	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtttcaggagcgtcatgtCtacctggacgagcccatcaa	9	9	10	13	3	4	0	3	0	1	0	4	3	4	2	3	2	3	1	3	2	2	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:57743444C>T	ENST00000383718.3	+	1	164	c.66C>T	c.(64-66)gtC>gtT	p.V22V	SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Silent_p.V22V|SLMAP_ENST00000449503.2_Silent_p.V22V|SLMAP_ENST00000428312.1_Silent_p.V22V|SLMAP_ENST00000295951.3_Silent_p.V22V			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	22	Necessary for targeting to centrosomes (By similarity).				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AGCGTCATGTCTACCTGGACG	0.572													26	9					0	0	0	0	T	57743444	C	T	57743444	2	4	40	1	0	0	0	0	0	0	0	1	14837	900	32	2		2	SLMAP	3	57743444	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	10984225	57743444	140278986	68	7580											
LRIG1	26018	broad.mit.edu	37	chr3	66432706	66432706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaggccttaccattgctctCaatgtgcccattggcctgag	7	12	10	12	0	1	2	1	2	1	0	2	2	1	2	4	2	3	1	4	2	2	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:66432706C>G	ENST00000383703.3	-	17	3142	c.2539G>C	c.(2539-2541)Gag>Cag	p.E847Q	LRIG1_ENST00000273261.3_Missense_Mutation_p.E870Q|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	870						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CCATTGCTCTCAATGTGCCCA	0.567													56	38					0	0	0	0	G	66432706	C	G	66432706	3	3	40	1	0	0	0	0	1	0	0	0	9008	835	29	2	689	2	LRIG1	3	66432706	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	8689262	66432706	131589724	69	7581											
HTR1F	3355	broad.mit.edu	37	chr3	88040493	88040493	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcccactggcattgattttGatcctttactacaaaatata	13	15	4	9	0	0	2	0	2	0	0	2	2	2	2	2	1	2	1	2	1	6	8			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:88040493G>C	ENST00000319595.4	+	1	648	c.594G>C	c.(592-594)ttG>ttC	p.L198F		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	198					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CATTGATTTTGATCCTTTACT	0.408													51	16					0	0	0	0	C	88040493	G	C	88040493	3	2	40	1	0	0	0	0	1	0	0	0	7493	1281	45	2	596	2	HTR1F	3	88040493	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	21607787	88040493	109981937	70	7582											
DCBLD2	131566	broad.mit.edu	37	chr3	98518387	98518387	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcagctgtcagtcctggaGagaagtgtattgtaagttcc	10	11	13	7	0	1	1	1	0	0	1	3	4	3	2	2	1	2	5	2	1	3	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:98518387G>A	ENST00000326840.6	-	16	2519	c.2157C>T	c.(2155-2157)ctC>ctT	p.L719L	DCBLD2_ENST00000326857.9_Silent_p.L733L	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	719					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CAGTCCTGGAGAGAAGTGTAT	0.572													67	253					0	0	0	0	A	98518387	G	A	98518387	2	1	40	1	0	0	0	0	0	0	0	1	4313	929	33	2		2	DCBLD2	3	98518387	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	10477894	98518387	99504043	71	7583											
HSPBAP1	79663	broad.mit.edu	37	chr3	122474119	122474119	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctattacctgtcctgggctCagtgtaaccgcatgtctttg	6	14	9	12	1	2	0	1	0	1	0	3	0	3	0	4	1	2	3	4	1	3	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:122474119C>G	ENST00000306103.2	-	5	872	c.729G>C	c.(727-729)ctG>ctC	p.L243L	HSPBAP1_ENST00000383659.1_3'UTR|HSPBAP1_ENST00000465044.1_5'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	243	JmjC.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GTCCTGGGCTCAGTGTAACCG	0.448													19	55					0	0	0	0	G	122474119	C	G	122474119	2	3	40	1	0	0	0	0	0	0	0	1	7478	813	29	2		2	HSPBAP1	3	122474119	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	23955732	122474119	75548311	72	7584											
UROC1	131669	broad.mit.edu	37	chr3	126219702	126219702	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccgtcgtgtccaattcGtggaccaggcgctccctggg	4	9	12	16	4	0	0	0	0	0	0	5	1	3	1	5	3	0	1	5	3	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:126219702G>A	ENST00000290868.2	-	11	1034	c.981C>T	c.(979-981)caC>caT	p.H327H	UROC1_ENST00000383579.3_Silent_p.H387H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	327					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGTCCAATTCGTGGACCAGGC	0.637													23	40					0	0	0	0	A	126219702	G	A	126219702	2	1	40	1	0	0	0	0	0	0	0	1	17124	1136	40	1		1	UROC1	3	126219702	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	3745583	126219702	71802728	73	7585											
CHST13	166012	broad.mit.edu	37	chr3	126260987	126260987	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacagcgccgccttccagAggcgctacggtgcacgcatc	7	6	11	17	5	0	1	0	0	0	1	2	1	1	1	4	2	4	3	4	2	2	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:126260987A>T	ENST00000319340.2	+	3	642	c.592A>T	c.(592-594)Agg>Tgg	p.R198W		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	198					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CGCCTTCCAGAGGCGCTACGG	0.726													9	11					0	0	0	0	T	126260987	A	T	126260987	3	4	40	1	0	0	0	0	1	0	0	0	3430	295	11	5	602	5	CHST13	3	126260987	Missense_Mutation	SNP	A	TCGA-BB-4227-01A-01D-1870-08	41285	126260987	71761443	74	7586											
ACAD11	84129	broad.mit.edu	37	chr3	132345633	132345633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacaactgtccagtagtatCaatctgtggtagtacagtac	14	11	8	8	0	2	0	1	0	1	0	3	0	3	0	1	1	4	5	1	1	8	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:132345633C>G	ENST00000264990.6	-	9	2070	c.1099G>C	c.(1099-1101)Gat>Cat	p.D367H	ACAD11_ENST00000481970.2_Missense_Mutation_p.D367H|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Missense_Mutation_p.D367H	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CCAGTAGTATCAATCTGTGGT	0.338													19	55					0	0	0	0	G	132345633	C	G	132345633	3	3	40	1	0	0	0	0	1	0	0	0	109	826	29	2	1291	2	ACAD11	3	132345633	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	6084646	132345633	65676797	75	7587											
ZBTB38	253461	broad.mit.edu	37	chr3	141161524	141161524	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagttccacagtcgttgtCaagagacaggaaacagtcac	14	8	9	10	1	2	1	2	0	0	1	4	3	3	2	1	1	2	2	1	1	3	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:141161524C>G	ENST00000514251.1	+	4	573	c.294C>G	c.(292-294)gtC>gtG	p.V98V	ZBTB38_ENST00000441582.2_Silent_p.V98V|ZBTB38_ENST00000321464.5_Silent_p.V99V			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	98	BTB.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CAGTCGTTGTCAAGAGACAGG	0.438													8	64					0	0	0	0	G	141161524	C	G	141161524	2	3	40	1	0	0	0	0	0	0	0	1	17634	813	29	2		2	ZBTB38	3	141161524	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	8815891	141161524	56860906	76	7588											
MED12L	116931	broad.mit.edu	37	chr3	151072985	151072985	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagactgtgttcactaaactCcagctcctttcatattttga	10	15	6	10	0	2	2	2	1	0	1	4	3	4	2	2	0	2	2	2	0	3	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:151072985C>G	ENST00000474524.1	+	16	2408	c.2370C>G	c.(2368-2370)ctC>ctG	p.L790L	MED12L_ENST00000273432.4_Silent_p.L650L|MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	790					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCACTAAACTCCAGCTCCTTT	0.358													32	63					0	0	0	0	G	151072985	C	G	151072985	2	3	40	1	0	0	0	0	0	0	0	1	9498	842	30	2		2	MED12L	3	151072985	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	9911461	151072985	46949445	77	7589											
MED12L	116931	broad.mit.edu	37	chr3	151078367	151078367	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgtgtcatgtagccacctCagaagtaaatttggagacct	12	12	9	8	0	2	2	2	0	0	2	2	3	2	2	3	1	1	2	3	1	5	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:151078367C>T	ENST00000474524.1	+	19	2864	c.2826C>T	c.(2824-2826)ctC>ctT	p.L942L	MED12L_ENST00000273432.4_Silent_p.L802L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	942					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTAGCCACCTCAGAAGTAAAT	0.428													68	173					0	0	0	0	T	151078367	C	T	151078367	2	4	40	1	0	0	0	0	0	0	0	1	9498	813	29	2		2	MED12L	3	151078367	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	5382	151078367	46944063	78	7590											
IGSF10	285313	broad.mit.edu	37	chr3	151155107	151155107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcaatatagccaactttattCctagctgcacagcgatattt	12	14	5	10	1	1	0	1	0	0	0	2	1	2	0	2	0	5	2	2	0	7	8			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:151155107C>G	ENST00000282466.3	-	6	7241	c.7242G>C	c.(7240-7242)agG>agC	p.R2414S	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2414	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAACTTTATTCCTAGCTGCAC	0.393													62	131					0	0	0	0	G	151155107	C	G	151155107	3	3	40	1	0	0	0	0	1	0	0	0	7650	854	30	2	633	2	IGSF10	3	151155107	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	76740	151155107	46867323	79	7591											
IGSF10	285313	broad.mit.edu	37	chr3	151155347	151155347	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctaaatgtcggtcttctCagcatttccagtacttctaa	9	17	5	10	1	4	0	1	0	4	0	7	0	5	0	1	1	2	2	1	1	4	7			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:151155347C>G	ENST00000282466.3	-	6	7001	c.7002G>C	c.(7000-7002)ctG>ctC	p.L2334L	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2334					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCGGTCTTCTCAGCATTTCCA	0.448													67	178					0	0	0	0	G	151155347	C	G	151155347	2	3	40	1	0	0	0	0	0	0	0	1	7650	813	29	2		2	IGSF10	3	151155347	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	240	151155347	46867083	80	7592											
IFT80	57560	broad.mit.edu	37	chr3	159995223	159995223	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggccatttttgattctttaGatggaagattttttatagaa	11	18	9	3	0	1	4	0	1	1	3	1	5	1	5	1	2	0	0	1	2	5	9			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:159995223G>C	ENST00000326448.7	-	18	2402	c.1970C>G	c.(1969-1971)tCt>tGt	p.S657C	IFT80_ENST00000483465.1_Missense_Mutation_p.S520C|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S828C|IFT80_ENST00000496589.1_Missense_Mutation_p.S520C	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	657						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGATTCTTTAGATGGAAGATT	0.318													24	61					0	0	0	0	C	159995223	G	C	159995223	3	2	40	1	0	0	0	0	1	0	0	0	7617	942	33	2	375	2	IFT80	3	159995223	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	8839876	159995223	38027207	81	7593											
BCHE	590	broad.mit.edu	37	chr3	165548470	165548470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttagatataaacagtcttCactgaggtcagtgtttgggt	11	15	10	5	0	3	2	2	1	1	1	3	2	3	2	0	2	1	1	0	2	4	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:165548470C>T	ENST00000264381.3	-	2	518	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	118					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AAACAGTCTTCACTGAGGTCA	0.388													23	64					0	0	0	0	T	165548470	C	T	165548470	3	4	40	1	0	0	0	0	1	0	0	0	1362	835	29	2	1468	2	BCHE	3	165548470	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	5553247	165548470	32473960	82	7594											
FNDC3B	64778	broad.mit.edu	37	chr3	172070742	172070742	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttctgcgtgccttgtactGaactgggaagagccgtgcaa	8	10	12	11	2	1	2	0	1	1	1	1	3	1	3	3	1	6	2	3	1	4	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:172070742G>A	ENST00000336824.4	+	22	2763	c.2664G>A	c.(2662-2664)ctG>ctA	p.L888L	FNDC3B_ENST00000415807.2_Silent_p.L888L|FNDC3B_ENST00000416957.1_Silent_p.L888L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	888	Fibronectin type-III 7.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GCCTTGTACTGAACTGGGAAG	0.542													31	95					0	0	0	0	A	172070742	G	A	172070742	2	1	40	1	0	0	0	0	0	0	0	1	6015	1277	45	2		2	FNDC3B	3	172070742	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	6522272	172070742	25951688	83	7595											
YEATS2	55689	broad.mit.edu	37	chr3	183493896	183493896	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttacacatcttacatcctCaagcaaactccccaggtctg	12	10	4	15	0	3	0	1	0	2	0	5	0	5	0	3	1	4	1	3	1	4	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:183493896C>T	ENST00000305135.5	+	18	2757	c.2562C>T	c.(2560-2562)ctC>ctT	p.L854L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	854					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTTACATCCTCAAGCAAACTC	0.438													11	33					0	0	0	0	T	183493896	C	T	183493896	2	4	40	1	0	0	0	0	0	0	0	1	17568	813	29	2		2	YEATS2	3	183493896	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	11423154	183493896	14528534	84	7596											
EPHB3	2049	broad.mit.edu	37	chr3	184295229	184295229	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcccaacggagtcatcctgGactacgagatgaagtacttt	11	9	11	10	2	1	2	1	1	0	1	2	5	2	4	2	3	3	1	2	3	4	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:184295229G>C	ENST00000330394.2	+	6	1905	c.1453G>C	c.(1453-1455)Gac>Cac	p.D485H	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	485	Fibronectin type-III 2.					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)			AGTCATCCTGGACTACGAGAT	0.602													3	130					0	0	0	0	C	184295229	G	C	184295229	3	2	40	1	0	0	0	0	1	0	0	0	5214	1174	41	2	1475	2	EPHB3	3	184295229	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	801333	184295229	13727201	85	7597											
EPHB3	2049	broad.mit.edu	37	chr3	184298534	184298534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagggcgggaagatccccatCcgctggactgccccagaggc	8	4	14	15	2	0	2	0	0	0	2	2	4	2	4	5	4	1	1	5	4	1	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:184298534C>T	ENST00000330394.2	+	13	2858	c.2406C>T	c.(2404-2406)atC>atT	p.I802I	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	802	Protein kinase.					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)			AGATCCCCATCCGCTGGACTG	0.642													15	76					0	0	0	0	T	184298534	C	T	184298534	2	4	40	1	0	0	0	0	0	0	0	1	5214	845	30	2		2	EPHB3	3	184298534	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	3305	184298534	13723896	86	7598											
EPHB3	2049	broad.mit.edu	37	chr3	184298946	184298946	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaggtcattgccagcgctCagtctgggttagtacctctg	7	12	11	11	1	5	0	3	0	2	0	5	0	5	0	2	2	3	3	2	2	3	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:184298946C>T	ENST00000330394.2	+	14	3177	c.2725C>T	c.(2725-2727)Cag>Tag	p.Q909*	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	909						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)			TGCCAGCGCTCAGTCTGGGTT	0.572													48	127					0	0	0	0	T	184298946	C	T	184298946	4	4	40	1	0	0	0	0	0	1	0	0	5214	827	29	2	2779	2	EPHB3	3	184298946	Nonsense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	412	184298946	13723484	87	7599											
TMEM41A	90407	broad.mit.edu	37	chr3	185209541	185209541	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatgaaattatatgggatCaaacctggaagaagaaaagg	19	7	11	4	0	1	4	1	1	0	3	1	6	1	6	1	3	1	0	1	3	8	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:185209541C>G	ENST00000296254.3	-	3	303	c.278G>C	c.(277-279)tGa>tCa	p.*93S	TMEM41A_ENST00000475480.1_Intron|TMEM41A_ENST00000421852.1_Missense_Mutation_p.L193F			Q96HV5	TM41A_HUMAN	transmembrane protein 41A	0						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TATATGGGATCAAACCTGGAA	0.423													21	52					0	0	0	0	G	185209541	C	G	185209541	4	3	40	1	0	0	0	0	0	0	0	0	16258	825	29	2	219	2	TMEM41A	3	185209541	Nonstop_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	910595	185209541	12812889	88	7600											
PPP1R2	5504	broad.mit.edu	37	chr3	195243706	195243706	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatctcgtctatgaacttcgTaatttgttttgctgttggtc	7	19	8	7	2	2	1	0	1	2	0	5	1	2	1	0	1	2	4	0	1	4	7			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:195243706T>A	ENST00000328432.3	-	6	966	c.606A>T	c.(604-606)ttA>ttT	p.L202F		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	202					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		ATGAACTTCGTAATTTGTTTT	0.358													29	27					0	0	0	0	A	195243706	T	A	195243706	3	1	40	1	0	0	0	0	1	0	0	0	12446	1635	57	5	15	5	PPP1R2	3	195243706	Missense_Mutation	SNP	T	TCGA-BB-4227-01A-01D-1870-08	10034165	195243706	2778724	89	7601											
PAK2	5062	broad.mit.edu	37	chr3	196554193	196554193	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaaaggggttcagccaaaGaattattacaggtaaattta	19	10	8	4	0	1	1	1	0	0	1	1	1	1	1	1	3	2	2	1	3	10	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:196554193G>C	ENST00000327134.3	+	14	1799	c.1477G>C	c.(1477-1479)Gaa>Caa	p.E493Q		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	493	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TTCAGCCAAAGAATTATTACA	0.358													41	82					0	0	0	0	C	196554193	G	C	196554193	3	2	40	1	0	0	0	0	1	0	0	0	11472	943	33	2	1527	2	PAK2	3	196554193	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	1310487	196554193	1468237	90	7602											
SLC34A2	10568	broad.mit.edu	37	chr4	25671434	25671434	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagatcttctgaaagtcatCactaagcccttcacaaagct	13	10	5	13	0	5	2	3	1	2	1	5	2	5	2	2	0	2	1	2	0	3	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr4:25671434C>T	ENST00000382051.3	+	7	851	c.801C>T	c.(799-801)atC>atT	p.I267I	SLC34A2_ENST00000504570.1_Silent_p.I266I|SLC34A2_ENST00000503434.1_Silent_p.I266I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	267					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGAAAGTCATCACTAAGCCCT	0.483			T	ROS1	NSCLC								74	41					0	0	0	0	T	25671434	C	T	25671434	2	4	40	1	0	0	0	0	0	0	0	1	14656	816	29	2		2	SLC34A2	4	25671434	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08		25671434	165482842	91	7603											
ARAP2	116984	broad.mit.edu	37	chr4	36130348	36130348	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatcaccattcttttgataGatatatttgcatcctaaacc	12	15	5	9	0	2	2	1	1	1	1	3	3	3	3	3	1	2	1	3	1	5	8			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr4:36130348G>C	ENST00000303965.4	-	21	3936	c.3447C>G	c.(3445-3447)atC>atG	p.I1149M		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1149	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTTTTGATAGATATATTTGC	0.294													25	44					0	0	0	0	C	36130348	G	C	36130348	3	2	40	1	0	0	0	0	1	0	0	0	841	932	33	2	1719	2	ARAP2	4	36130348	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	10458914	36130348	155023928	92	7604											
PDS5A	23244	broad.mit.edu	37	chr4	39929692	39929692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattggggttcctgaggaaGaattcagatgcaagatgcaa	13	11	12	5	0	1	4	1	1	0	3	2	5	2	5	1	3	2	3	1	3	5	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr4:39929692G>A	ENST00000303538.8	-	3	770	c.231C>T	c.(229-231)ttC>ttT	p.F77F	PDS5A_ENST00000503396.1_Silent_p.F77F	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	77					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TCCTGAGGAAGAATTCAGATG	0.423													35	33					0	0	0	0	A	39929692	G	A	39929692	2	1	40	1	0	0	0	0	0	0	0	1	11762	933	33	2		2	PDS5A	4	39929692	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	3799344	39929692	151224584	93	7605											
CHRNA9	55584	broad.mit.edu	37	chr4	40356015	40356015	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtaaatactacatagccacGatggccctgatcacagcctc	12	8	8	13	1	1	1	1	1	0	0	2	2	1	1	3	2	4	1	3	2	5	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr4:40356015G>C	ENST00000310169.2	+	5	1057	c.918G>C	c.(916-918)acG>acC	p.T306T		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	306					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	ACATAGCCACGATGGCCCTGA	0.502													56	216					0	0	0	0	C	40356015	G	C	40356015	2	2	40	1	0	0	0	0	0	0	0	1	3418	1045	37	3		3	CHRNA9	4	40356015	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	426323	40356015	150798261	94	7606											
GRIA2	2891	broad.mit.edu	37	chr4	158254442	158254442	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaatataaagtttgaccaGaatggaaaaagaataaacta	22	8	8	3	0	0	3	0	1	0	2	0	5	0	5	1	2	1	1	1	2	11	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr4:158254442G>C	ENST00000296526.7	+	8	1417	c.1092G>C	c.(1090-1092)caG>caC	p.Q364H	GRIA2_ENST00000393815.2_Missense_Mutation_p.Q317H|GRIA2_ENST00000449365.1_Missense_Mutation_p.Q317H|GRIA2_ENST00000264426.9_Missense_Mutation_p.Q364H|GRIA2_ENST00000507898.1_Missense_Mutation_p.Q317H	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	364					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGTTTGACCAGAATGGAAAAA	0.358													23	19					0	0	0	0	C	158254442	G	C	158254442	3	2	40	1	0	0	0	0	1	0	0	0	6818	933	33	2	1122	2	GRIA2	4	158254442	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	117898427	158254442	32899834	95	7607											
SDHA	6389	broad.mit.edu	37	chr5	225544	225544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtttccagggaggaatcaAtgctgctctggggaacatgg	9	10	15	7	0	2	0	1	0	1	0	3	3	3	3	1	5	3	3	1	5	3	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:225544A>G	ENST00000264932.6	+	4	438	c.323A>G	c.(322-324)aAt>aGt	p.N108S	SDHA_ENST00000510361.1_Intron|SDHA_ENST00000504309.1_Missense_Mutation_p.N108S	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	108					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GGAGGAATCAATGCTGCTCTG	0.572									Familial Paragangliomas				4	181					0	0	0	0	G	225544	A	G	225544	3	3	40	1	0	0	0	0	1	0	0	0	14050	101	4	5	337	5	SDHA	5	225544	Missense_Mutation	SNP	A	TCGA-BB-4227-01A-01D-1870-08		225544	180689716	96	7608											
C5orf51	285636	broad.mit.edu	37	chr5	41904484	41904484	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggccatggcggccgcagtCtctagtgtggtgagacgagt	6	9	17	9	3	1	1	0	1	1	1	2	3	1	1	2	4	0	1	2	4	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:41904484C>G	ENST00000381647.2	+	1	34	c.15C>G	c.(13-15)gtC>gtG	p.V5V	C5orf51_ENST00000505931.2_Intron	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	5										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CGGCCGCAGTCTCTAGTGTGG	0.667													22	39					0	0	0	0	G	41904484	C	G	41904484	2	3	40	1	0	0	0	0	0	0	0	1	2329	900	32	2		2	C5orf51	5	41904484	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	41678940	41904484	139010776	97	7609											
FBXO4	26272	broad.mit.edu	37	chr5	41934106	41934106	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataaattcaacattctaatCttatattcaactaccaggta	16	14	2	9	0	4	0	2	0	2	0	4	0	4	0	1	1	3	1	1	1	9	9			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:41934106C>G	ENST00000296812.2	+	4	761	c.705C>G	c.(703-705)atC>atG	p.I235M	FBXO4_ENST00000509134.1_Missense_Mutation_p.I235M|FBXO4_ENST00000281623.3_Missense_Mutation_p.I235M	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	235					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				ACATTCTAATCTTATATTCAA	0.328													16	69					0	0	0	0	G	41934106	C	G	41934106	3	3	40	1	0	0	0	0	1	0	0	0	5793	903	32	2	719	2	FBXO4	5	41934106	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	29622	41934106	138981154	98	7610											
PAIP1	10605	broad.mit.edu	37	chr5	43539098	43539098	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcgagtaacttcatccccTtttgcagcttgatctttaac	8	17	5	11	1	2	1	1	1	1	0	4	2	3	1	2	0	4	3	2	0	2	8			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:43539098T>C	ENST00000306846.3	-	5	1006	c.774A>G	c.(772-774)aaA>aaG	p.K258K	PAIP1_ENST00000338972.4_Silent_p.K146K|PAIP1_ENST00000436644.2_Silent_p.K179K|PAIP1_ENST00000514514.1_Silent_p.K179K	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	258	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CTTCATCCCCTTTTGCAGCTT	0.323													3	171					0	0	0	0	C	43539098	T	C	43539098	2	2	40	1	0	0	0	0	0	0	0	1	11467	1606	56	5		5	PAIP1	5	43539098	Silent	SNP	T	TCGA-BB-4227-01A-01D-1870-08	1604992	43539098	137376162	99	7611											
ZNF608	57507	broad.mit.edu	37	chr5	123974878	123974878	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcctgggcagccacctgctGagaggcaacaagggcagcag	10	4	15	12	0	0	1	0	1	0	1	0	2	0	1	3	3	5	5	3	3	2	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:123974878G>C	ENST00000306315.5	-	8	4915	c.4480C>G	c.(4480-4482)Cag>Gag	p.Q1494E	ZNF608_ENST00000513985.1_5'UTR|ZNF608_ENST00000504926.1_Missense_Mutation_p.Q1067E	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1494						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCACCTGCTGAGAGGCAACA	0.423													16	31					0	0	0	0	C	123974878	G	C	123974878	3	2	40	1	0	0	0	0	1	0	0	0	18129	1299	45	2	66	2	ZNF608	5	123974878	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	80435780	123974878	56940382	100	7612											
SEC24A	10802	broad.mit.edu	37	chr5	134060674	134060674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttttattcctaagggatGagagtccaatgaaagcaaac	14	10	9	8	0	0	2	0	2	0	1	2	4	2	3	3	1	2	1	3	1	5	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:134060674G>A	ENST00000398844.2	+	23	3460	c.3172G>A	c.(3172-3174)Gag>Aag	p.E1058K		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	1058					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTAAGGGATGAGAGTCCAAT	0.318													23	43					0	0	0	0	A	134060674	G	A	134060674	3	1	40	1	0	0	0	0	1	0	0	0	14081	1291	45	2	3262	2	SEC24A	5	134060674	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	10085796	134060674	46854586	101	7613											
PCDHGA4	56111	broad.mit.edu	37	chr5	140736827	140736827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagcagacccagacgactCgggcctcacactctatctcg	9	8	8	16	3	4	2	2	0	2	2	6	3	4	2	2	1	1	1	2	1	1	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:140736827C>T	ENST00000571252.1	+	1	2060	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGACGACTCGGGCCTCACA	0.617													25	40					0	0	0	0	T	140736827	C	T	140736827	3	4	40	1	0	0	0	0	1	0	0	0	11627	893	31	1	2062	1	PCDHGA4	5	140736827	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	6676153	140736827	40178433	102	7614											
MFAP3	4238	broad.mit.edu	37	chr5	153433244	153433244	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatctaactgtaactacaaaGatggggcatatgaaaactgt	17	10	8	6	0	1	2	0	1	1	1	1	2	1	2	0	2	4	2	0	2	8	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:153433244G>C	ENST00000436816.1	+	3	1279	c.1060G>C	c.(1060-1062)Gat>Cat	p.D354H	MFAP3_ENST00000439768.2_Missense_Mutation_p.D208H|MFAP3_ENST00000322602.5_Missense_Mutation_p.D354H	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	354						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		TAACTACAAAGATGGGGCATA	0.408													25	36					0	0	0	0	C	153433244	G	C	153433244	3	2	40	1	0	0	0	0	1	0	0	0	9584	942	33	2	1066	2	MFAP3	5	153433244	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	12696417	153433244	27482016	103	7615											
ATP10B	23120	broad.mit.edu	37	chr5	160049574	160049574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggtcagtaggtttttatCtggagttacatctttttcct	6	20	8	7	0	3	0	1	0	2	0	4	1	4	1	1	3	1	3	1	3	3	8			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:160049574C>G	ENST00000327245.5	-	14	2485	c.1639G>C	c.(1639-1641)Gat>Cat	p.D547H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	547					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGTTTTTATCTGGAGTTACA	0.507													45	65					0	0	0	0	G	160049574	C	G	160049574	3	3	40	1	0	0	0	0	1	0	0	0	1121	913	32	2	2798	2	ATP10B	5	160049574	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	6616330	160049574	20865686	104	7616											
ATP10B	23120	broad.mit.edu	37	chr5	160071214	160071214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcgaagcagaagactctCacagccaaagccagtcctgg	12	5	10	14	1	1	2	1	0	1	2	4	3	2	2	4	1	3	1	4	1	3	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:160071214C>T	ENST00000327245.5	-	9	1645	c.799G>A	c.(799-801)Gag>Aag	p.E267K		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	267					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAGACTCTCACAGCCAAAG	0.512													28	54					0	0	0	0	T	160071214	C	T	160071214	3	4	40	1	0	0	0	0	1	0	0	0	1121	835	29	2	3658	2	ATP10B	5	160071214	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	21640	160071214	20844046	105	7617											
GCNT2	2651	broad.mit.edu	37	chr6	10556812	10556812	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagtttgcacatcttttatCaatggaaaaacacgtttcct	13	14	5	9	1	2	0	1	0	1	0	3	1	3	1	1	1	2	3	1	1	5	4	rs55823251		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:10556812C>T	ENST00000316170.3	+	1	573	c.156C>T	c.(154-156)atC>atT	p.I52I	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	53						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CATCTTTTATCAATGGAAAAA	0.418													45	30					0	0	0	0	T	10556812	C	T	10556812	2	4	40	1	0	0	0	0	0	0	0	1	6350	816	29	2		2	GCNT2	6	10556812	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08		10556812	160558255	106	7618											
SLC17A3	10786	broad.mit.edu	37	chr6	25862469	25862469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatgttgcttacctttgcagGaagactctttggggctttac	7	16	10	8	0	1	1	0	0	1	1	1	2	1	2	1	3	4	4	1	3	4	7			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:25862469G>A	ENST00000397060.4	-	3	404	c.295C>T	c.(295-297)Cct>Tct	p.P99S	SLC17A3_ENST00000361703.6_Missense_Mutation_p.P99S|SLC17A3_ENST00000360657.3_Missense_Mutation_p.P99S	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	99					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ACCTTTGCAGGAAGACTCTTT	0.383													17	14					0	0	0	0	A	25862469	G	A	25862469	3	1	40	1	0	0	0	0	1	0	0	0	14506	1174	41	2	1241	2	SLC17A3	6	25862469	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	15305657	25862469	145252598	107	7619											
OR2B6	26212	broad.mit.edu	37	chr6	27925541	27925541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtgacccctatgtgataGatcactttctctgtgaagtc	8	15	8	10	0	3	4	1	3	2	1	5	4	3	4	2	0	0	0	2	0	3	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:27925541G>A	ENST00000244623.1	+	1	523	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTATGTGATAGATCACTTTCT	0.483													51	39					0	0	0	0	A	27925541	G	A	27925541	3	1	40	1	0	0	0	0	1	0	0	0	11062	942	33	2	525	2	OR2B6	6	27925541	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	2063072	27925541	143189526	108	7620											
DHX16	8449	broad.mit.edu	37	chr6	30624384	30624384	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccaatcacctaagctcttGagcagcaacacgacattgcc	12	7	7	15	1	2	1	1	1	1	0	2	2	2	1	3	0	5	3	3	0	3	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:30624384G>C	ENST00000376442.3	-	14	2496	c.2301C>G	c.(2299-2301)ctC>ctG	p.L767L	DHX16_ENST00000376437.5_Silent_p.L286L	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	767	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						CTAAGCTCTTGAGCAGCAACA	0.557													73	102					0	0	0	0	C	30624384	G	C	30624384	2	2	40	1	0	0	0	0	0	0	0	1	4539	1277	45	2		2	DHX16	6	30624384	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	2698843	30624384	140490683	109	7621											
CFB	629	broad.mit.edu	37	chr6	31915793	31915793	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacctggtgctagatggaTcagacagcattggggccagc	9	9	13	10	0	2	2	1	0	1	2	2	3	2	3	2	4	4	2	2	4	2	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:31915793T>A	ENST00000556679.1	+	18	2393	c.2338T>A	c.(2338-2340)Tca>Aca	p.S780T	CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.S629T|CFB_ENST00000456570.1_Missense_Mutation_p.S780T|CFB_ENST00000425368.2_Missense_Mutation_p.S278T			P00751	CFAB_HUMAN	complement factor B	278					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						GCTAGATGGATCAGACAGCAT	0.537													30	42					0	0	0	0	A	31915793	T	A	31915793	3	1	40	1	0	0	0	0	1	0	0	0	3307	1435	50	5	854	5	CFB	6	31915793	Missense_Mutation	SNP	T	TCGA-BB-4227-01A-01D-1870-08	1291409	31915793	139199274	110	7622											
TAPBP	6892	broad.mit.edu	37	chr6	33272808	33272808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacctgtccttgcaggtatgGcaggtgtatggtggccagat	7	11	15	8	0	0	1	0	0	0	1	1	2	1	1	3	5	1	4	3	5	2	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:33272808G>A	ENST00000434618.2	-	4	1171	c.826C>T	c.(826-828)Cca>Tca	p.P276S	TAPBP_ENST00000426633.2_Missense_Mutation_p.P276S|TAPBP_ENST00000456592.2_Missense_Mutation_p.P276S|TAPBP_ENST00000475304.1_Missense_Mutation_p.P294S|TAPBP_ENST00000489157.1_Missense_Mutation_p.P189S	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	276					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TGCAGGTATGGCAGGTGTATG	0.587													108	138					0	0	0	0	A	33272808	G	A	33272808	3	1	40	1	0	0	0	0	1	0	0	0	15643	1203	42	4	720	4	TAPBP	6	33272808	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	1357015	33272808	137842259	111	7623											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34835329	34835329	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtggccctgcaagcagaGgaactgaccctccagcagct	10	6	11	14	0	0	2	0	1	0	1	1	3	1	3	3	2	5	4	3	2	2	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:34835329G>A	ENST00000192788.5	+	17	3825	c.3654G>A	c.(3652-3654)gaG>gaA	p.E1218E	UHRF1BP1_ENST00000452449.2_Silent_p.E1218E	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1218										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGCAAGCAGAGGAACTGACCC	0.547													40	89					0	0	0	0	A	34835329	G	A	34835329	2	1	40	1	0	0	0	0	0	0	0	1	17064	991	35	4		4	UHRF1BP1	6	34835329	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	1562521	34835329	136279738	112	7624											
LHFPL5	222662	broad.mit.edu	37	chr6	35773513	35773513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaactatgtgcggaactcGcgagccgtgggcgtgatgtg	8	8	15	10	5	0	1	0	1	0	0	1	3	0	2	2	2	4	0	2	2	3	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:35773513G>A	ENST00000360215.1	+	1	443	c.66G>A	c.(64-66)tcG>tcA	p.S22S	LHFPL5_ENST00000373853.1_Silent_p.S22S	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	22						integral to membrane		p.S22S(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TGCGGAACTCGCGAGCCGTGG	0.617													30	122					0	0	0	0	A	35773513	G	A	35773513	2	1	40	1	0	0	0	0	0	0	0	1	8822	1074	38	1		1	LHFPL5	6	35773513	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	938184	35773513	135341554	113	7625											
ZNF318	24149	broad.mit.edu	37	chr6	43307216	43307216	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatggcagctggctgtgctGaggccatgatggctacaggc	8	8	16	9	0	0	2	0	2	0	0	0	3	0	2	1	5	3	5	1	5	2	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:43307216G>C	ENST00000361428.2	-	10	4597	c.4520C>G	c.(4519-4521)tCa>tGa	p.S1507*	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1507	Pro-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGGCTGTGCTGAGGCCATGAT	0.532													20	45					0	0	0	0	C	43307216	G	C	43307216	4	2	40	1	0	0	0	0	0	1	0	0	17931	1294	45	2	2323	2	ZNF318	6	43307216	Nonsense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	7533703	43307216	127807851	114	7626											
ELOVL5	60481	broad.mit.edu	37	chr6	53138060	53138060	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccaccagaggtatggAcgcatggaagggactgacga	11	8	13	9	2	1	2	0	1	1	1	2	6	2	5	2	4	0	2	2	4	2	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:53138060A>G	ENST00000542638.1	-	6	1026	c.579T>C	c.(577-579)cgT>cgC	p.R193R	ELOVL5_ENST00000541407.1_Silent_p.R220R|ELOVL5_ENST00000370918.4_Silent_p.R183R|ELOVL5_ENST00000304434.6_Silent_p.R193R			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	193				YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035).	fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AGAGGTATGGACGCATGGAAG	0.502													3	119					0	0	0	0	G	53138060	A	G	53138060	2	3	40	1	0	0	0	0	0	0	0	1	5115	262	10	5		5	ELOVL5	6	53138060	Silent	SNP	A	TCGA-BB-4227-01A-01D-1870-08	9830844	53138060	117977007	115	7627											
FAM83B	222584	broad.mit.edu	37	chr6	54792428	54792428	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgatgtacggttcttaCaggtaagatcattgtgttta	12	15	10	4	1	2	2	1	1	1	1	2	2	2	2	0	2	2	4	0	2	5	7			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:54792428C>A	ENST00000306858.7	+	4	848	c.732C>A	c.(730-732)taC>taA	p.Y244*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	244										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACGGTTCTTACAGGTAAGATC	0.299													44	83					2.74695e-27	2.96131e-27	1	0	A	54792428	C	A	54792428	4	1	40	1	0	0	0	0	0	1	0	0	5680	489	17	4	742	4	FAM83B	6	54792428	Nonsense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	1654368	54792428	116322639	116	7628											
KHDC1	80759	broad.mit.edu	37	chr6	73951446	73951446	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcggacacgttccagcatctCcaggcctgcaaaataagtgc	11	8	9	13	2	1	0	0	0	1	0	4	1	2	1	3	2	3	3	3	2	3	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:73951446C>G	ENST00000370384.3	-	5	1020	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	KHDC1_ENST00000257765.5_Missense_Mutation_p.E101Q|RP11-257K9.8_ENST00000423730.3_Intron	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	174						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						TCCAGCATCTCCAGGCCTGCA	0.582													27	35					0	0	0	0	G	73951446	C	G	73951446	3	3	40	1	0	0	0	0	1	0	0	0	8196	864	30	2	197	2	KHDC1	6	73951446	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	19159018	73951446	97163621	117	7629											
ME1	4199	broad.mit.edu	37	chr6	83921771	83921771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctttgttttgcggttcagGataaactgtggctgtctttt	5	20	10	6	1	3	0	1	0	2	0	3	1	3	1	0	3	2	3	0	3	2	8			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:83921771G>A	ENST00000369705.3	-	14	1707	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	ME1_ENST00000541327.1_Missense_Mutation_p.P365S|ME1_ENST00000543031.1_Missense_Mutation_p.P456S	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	531					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TGCGGTTCAGGATAAACTGTG	0.358													32	56					0	0	0	0	A	83921771	G	A	83921771	3	1	40	1	0	0	0	0	1	0	0	0	9486	1174	41	2	131	2	ME1	6	83921771	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	9970325	83921771	87193296	118	7630											
MAP3K7	6885	broad.mit.edu	37	chr6	91228236	91228236	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccattttacaatgctgttCaaacactgccatagattctt	11	15	5	10	0	2	1	1	0	1	1	2	1	2	1	2	0	5	2	2	0	4	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:91228236C>G	ENST00000369329.3	-	16	1731	c.1570G>C	c.(1570-1572)Gaa>Caa	p.E524Q	MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369325.3_Intron|MAP3K7_ENST00000369332.3_Missense_Mutation_p.E497Q|MAP3K7_ENST00000369320.1_Missense_Mutation_p.E178Q	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	524					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	p.E497Q(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAATGCTGTTCAAACACTGCC	0.289													11	24					0	0	0	0	G	91228236	C	G	91228236	3	3	40	1	0	0	0	0	1	0	0	0	9324	835	29	2	258	2	MAP3K7	6	91228236	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	7306465	91228236	79886831	119	7631											
HACE1	57531	broad.mit.edu	37	chr6	105281023	105281023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatggagtagttctgtcCgcccattcacagccagccaa	9	9	10	13	1	3	0	2	0	1	0	4	1	4	1	4	2	2	2	4	2	2	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:105281023C>T	ENST00000262903.4	-	6	704	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	RP11-809N15.2_ENST00000422930.1_RNA|HACE1_ENST00000369125.2_Missense_Mutation_p.R143Q	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	143					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TAGTTCTGTCCGCCCATTCAC	0.423													25	75					0	0	0	0	T	105281023	C	T	105281023	3	4	40	1	0	0	0	0	1	0	0	0	6990	652	23	1	2377	1	HACE1	6	105281023	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	14052787	105281023	65834044	120	7632											
LACE1	246269	broad.mit.edu	37	chr6	108616315	108616315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcgctcttggttacccTgcgccccttagcacagagcc	5	10	10	16	2	1	1	0	0	1	1	2	1	1	1	4	2	4	3	4	2	2	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:108616315T>C	ENST00000368977.4	+	1	218	c.32T>C	c.(31-33)cTg>cCg	p.L11P		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	11							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TTGGTTACCCTGCGCCCCTTA	0.617													3	49					0	0	0	0	C	108616315	T	C	108616315	3	2	40	1	0	0	0	0	1	0	0	0	8648	1580	55	5	34	5	LACE1	6	108616315	Missense_Mutation	SNP	T	TCGA-BB-4227-01A-01D-1870-08	3335292	108616315	62498752	121	7633											
IFNGR1	3459	broad.mit.edu	37	chr6	137540429	137540429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcagccctgctcacaccCtgcatgacaaggggtaggag	10	7	11	13	0	2	1	2	1	1	0	3	2	2	2	2	3	3	3	2	3	2	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:137540429C>G	ENST00000367739.4	-	1	157	c.36G>C	c.(34-36)caG>caC	p.Q12H	IFNGR1_ENST00000478333.1_5'UTR|IFNGR1_ENST00000367735.2_5'UTR	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	12					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TGCTCACACCCTGCATGACAA	0.692													12	21					0	0	0	0	G	137540429	C	G	137540429	3	3	40	1	0	0	0	0	1	0	0	0	7602	680	24	4	1461	4	IFNGR1	6	137540429	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	28924114	137540429	33574638	122	7634											
LATS1	9113	broad.mit.edu	37	chr6	149983190	149983190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttaggaatgtatgaagcaGactgctgtctcaggtcactg	10	13	11	7	0	2	2	2	1	1	1	3	3	2	3	0	2	2	3	0	2	4	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:149983190G>C	ENST00000543571.1	-	8	3615	c.3068C>G	c.(3067-3069)tCt>tGt	p.S1023C	LATS1_ENST00000253339.5_Missense_Mutation_p.S1023C	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	1023	AGC-kinase C-terminal.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GTATGAAGCAGACTGCTGTCT	0.388													14	107					0	0	0	0	C	149983190	G	C	149983190	3	2	40	1	0	0	0	0	1	0	0	0	8699	942	33	2	328	2	LATS1	6	149983190	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	12442761	149983190	21131877	123	7635											
LATS1	9113	broad.mit.edu	37	chr6	150001095	150001095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaatatgaccatcacgatCaatcaaaatattatcaggtt	16	14	4	7	1	4	1	4	1	0	0	4	2	4	1	1	1	0	1	1	1	7	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:150001095C>G	ENST00000543571.1	-	5	3056	c.2509G>C	c.(2509-2511)Gat>Cat	p.D837H	LATS1_ENST00000253339.5_Missense_Mutation_p.D837H|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	837	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CCATCACGATCAATCAAAATA	0.363													29	49					0	0	0	0	G	150001095	C	G	150001095	3	3	40	1	0	0	0	0	1	0	0	0	8699	826	29	2	899	2	LATS1	6	150001095	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	17905	150001095	21113972	124	7636											
MTRF1L	54516	broad.mit.edu	37	chr6	153311053	153311053	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactttttgggaaataatttCtactaaagattcataatcgg	15	15	6	5	1	2	1	1	0	1	1	3	2	2	2	0	2	2	0	0	2	7	8			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:153311053C>G	ENST00000367233.5	-	7	1119	c.1120G>C	c.(1120-1122)Gaa>Caa	p.E374Q	MTRF1L_ENST00000367230.1_3'UTR|MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367231.5_3'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	374						mitochondrion	translation release factor activity, codon specific			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		GAAATAATTTCTACTAAAGAT	0.333													37	80					0	0	0	0	G	153311053	C	G	153311053	3	3	40	1	0	0	0	0	1	0	0	0	10030	922	32	2	26	2	MTRF1L	6	153311053	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	3309958	153311053	17804014	125	7637											
PDGFA	5154	broad.mit.edu	37	chr7	552064	552064	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatggaccccgtgagctctCaggctggtgtccaaagaatc	9	8	12	12	1	1	2	1	1	1	1	4	3	2	3	3	3	1	3	3	3	2	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:552064C>G	ENST00000402802.3	-	3	596	c.189G>C	c.(187-189)ctG>ctC	p.L63L	PDGFA_ENST00000354513.5_Silent_p.L63L	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	63					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CGTGAGCTCTCAGGCTGGTGT	0.647													26	79					0	0	0	0	G	552064	C	G	552064	2	3	40	1	0	0	0	0	0	0	0	1	11728	813	29	2		2	PDGFA	7	552064	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08		552064	158586599	126	7638											
RBAK	57786	broad.mit.edu	37	chr7	5112576	5112576	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggggctggcggagacggaGagctgcgggcagactcacac	8	4	18	11	4	1	3	1	0	0	3	2	5	1	3	0	6	2	3	0	6	0	0	rs140476131		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:5112576G>C	ENST00000407184.1	+	8	725	c.459G>C	c.(457-459)gaG>gaC	p.E153D	RBAK_ENST00000396904.2_3'UTR|RBAK_ENST00000498308.1_3'UTR			Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	0					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CGGAGACGGAGAGCTGCGGGC	0.657													32	99					0	0	0	0	C	5112576	G	C	5112576	3	2	40	1	0	0	0	0	1	0	0	0	13182	957	33	2		2	RBAK	7	5112576	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	4560512	5112576	154026087	127	7639											
PMS2	5395	broad.mit.edu	37	chr7	6029573	6029573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttatctggagtaacattGatatcaacgcattctaaggc	12	14	7	8	1	3	1	1	1	2	0	3	2	3	2	0	2	2	2	0	2	5	7			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:6029573G>C	ENST00000265849.7	-	10	1107	c.1002C>G	c.(1000-1002)atC>atG	p.I334M	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.I228M|PMS2_ENST00000406569.3_Missense_Mutation_p.I334M|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	334					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GAGTAACATTGATATCAACGC	0.289			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				36	35					0	0	0	0	C	6029573	G	C	6029573	3	2	40	1	0	0	0	0	1	0	0	0	12215	1280	45	2	1610	2	PMS2	7	6029573	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	916997	6029573	153109090	128	7640											
NOD1	10392	broad.mit.edu	37	chr7	30492447	30492447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccaggatgaagatggtctCaccctgctcattgaggatgc	10	9	11	11	0	2	3	2	2	1	1	3	5	2	5	2	3	2	1	2	3	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:30492447C>T	ENST00000222823.4	-	6	1111	c.586G>A	c.(586-588)Gag>Aag	p.E196K	NOD1_ENST00000423334.2_Intron	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	196	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AAGATGGTCTCACCCTGCTCA	0.627													42	13					0	0	0	0	T	30492447	C	T	30492447	3	4	40	1	0	0	0	0	1	0	0	0	10586	835	29	2	2311	2	NOD1	7	30492447	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	24462874	30492447	128646216	129	7641											
AUTS2	26053	broad.mit.edu	37	chr7	70227855	70227855	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgctctctcccatgcaGatccggagttaggtgttggc	5	14	11	11	1	2	1	0	0	2	1	5	2	4	2	2	3	2	4	2	3	1	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:70227855G>T	ENST00000342771.4	+	7	1063		c.e7-1		AUTS2_ENST00000406775.2_Splice_Site	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2											breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTCCCATGCAGATCCGGAGTT	0.522													44	225					2.24722e-20	2.40866e-20	1	0	T	70227855	G	T	70227855	5	4	40	1	0	0	0	0	0	0	1	0	1229	956	33	2	913	2	AUTS2	7	70227855	Splice_Site	SNP	G	TCGA-BB-4227-01A-01D-1870-08	39735408	70227855	88910808	130	7642											
ARPC1B	10095	broad.mit.edu	37	chr7	98988657	98988657	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtctgtttctcagccagcggGagccgcgtggcctgggtaag	5	9	16	11	3	2	0	1	0	2	0	3	1	2	1	3	3	3	2	3	3	1	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:98988657G>A	ENST00000451682.1	+	8	951	c.642G>A	c.(640-642)ggG>ggA	p.G214G	ARPC1B_ENST00000252725.5_Silent_p.G214G			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	214					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CAGCCAGCGGGAGCCGCGTGG	0.632													16	47					0	0	0	0	A	98988657	G	A	98988657	2	1	40	1	0	0	0	0	0	0	0	1	974	1161	41	2		2	ARPC1B	7	98988657	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	28760802	98988657	60150006	131	7643											
ZNF394	84124	broad.mit.edu	37	chr7	99097680	99097680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagggtcccaactcggcgtCactgccgcgcctctgggcgg	4	6	14	17	5	2	0	1	0	1	0	4	0	3	0	4	4	2	0	4	4	1	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:99097680C>T	ENST00000337673.6	-	1	240	c.37G>A	c.(37-39)Gac>Aac	p.D13N	ZNF394_ENST00000426306.2_Missense_Mutation_p.D13N|ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	13					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AACTCGGCGTCACTGCCGCGC	0.597													52	48					0	0	0	0	T	99097680	C	T	99097680	3	4	40	1	0	0	0	0	1	0	0	0	17975	826	29	2	1660	2	ZNF394	7	99097680	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	109023	99097680	60040983	132	7644											
MUC17	140453	broad.mit.edu	37	chr7	100679095	100679095	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacctgtcagcaacacgccGgtggccaattctgaggctag	10	8	11	12	2	2	1	1	1	1	0	2	1	2	1	3	3	3	2	3	3	4	3	rs149059191	byFrequency	TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:100679095G>C	ENST00000306151.4	+	3	4462	c.4398G>C	c.(4396-4398)ccG>ccC	p.P1466P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1466	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAACACGCCGGTGGCCAATT	0.478													161	432					0	0	0	0	C	100679095	G	C	100679095	2	2	40	1	0	0	0	0	0	0	0	1	10044	1103	39	3		3	MUC17	7	100679095	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	1581415	100679095	58459568	133	7645											
LAMB1	3912	broad.mit.edu	37	chr7	107601753	107601753	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcccttctcaaagcacacCggccgaggaaggacgacata	12	6	10	13	3	1	0	1	0	1	0	3	4	2	2	3	3	1	2	3	3	3	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:107601753C>T	ENST00000393561.1	-	15	2263	c.2079G>A	c.(2077-2079)ccG>ccA	p.P693P	LAMB1_ENST00000393560.1_Silent_p.P669P|LAMB1_ENST00000222399.6_Silent_p.P669P			P07942	LAMB1_HUMAN	laminin, beta 1	669	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAAGCACACCGGCCGAGGAA	0.463													9	55					0	0	0	0	T	107601753	C	T	107601753	2	4	40	1	0	0	0	0	0	0	0	1	8663	639	23	1		1	LAMB1	7	107601753	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	6922658	107601753	51536910	134	7646											
IQUB	154865	broad.mit.edu	37	chr7	123109372	123109372	+	Frame_Shift_Del	DEL	T	T	-																															ttgcagctctctggctctgaTggtgaactgcgtatccatct																										TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:123109372delT	ENST00000466202.1	-	9	2053	c.1477delA	c.(1477-1479)tcfs	p.I493fs	IQUB_ENST00000324698.6_Frame_Shift_Del_p.I493fs|IQUB_ENST00000434450.1_Frame_Shift_Del_p.I493fs			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	493										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTGGCTCTGATGGTGAACTGC	0.358													31	134	---	---	---	---					-	123109372	T	-	123109372	7	5	40	1	0	1	0	1	0	0	0	0	7873	1464	51	0	918	0	IQUB	7	123109372	Frame_Shift_Del	DEL	T	TCGA-BB-4227-01A-01D-1870-08	15507619	123109372	36029291	135	7647											
OR2A14	135941	broad.mit.edu	37	chr7	143826410	143826410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcacacctggccattgttGacatatcctatgcttccaac	9	13	5	14	0	1	1	1	1	1	0	4	1	3	1	4	1	2	2	4	1	3	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:143826410G>A	ENST00000408899.2	+	1	260	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GGCCATTGTTGACATATCCTA	0.463													79	140					0	0	0	0	A	143826410	G	A	143826410	3	1	40	1	0	0	0	0	1	0	0	0	11047	1290	45	2	207	2	OR2A14	7	143826410	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	20717038	143826410	15312253	136	7648											
KCNH2	3757	broad.mit.edu	37	chr7	150648119	150648119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggatgaactcccgcacccGcagcatctgtgtgtggtagc	7	8	13	13	3	1	1	0	1	1	0	2	2	2	2	2	2	3	4	2	2	2	1	rs79624542		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:150648119G>A	ENST00000392968.2	-	6	2867	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	KCNH2_ENST00000430723.3_Missense_Mutation_p.R679W|KCNH2_ENST00000330883.4_Missense_Mutation_p.R339W|KCNH2_ENST00000262186.5_Missense_Mutation_p.R679W			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	679					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TCCCGCACCCGCAGCATCTGT	0.632													27	32					0	0	0	0	A	150648119	G	A	150648119	3	1	40	1	0	0	0	0	1	0	0	0	8085	1086	38	1	1745	1	KCNH2	7	150648119	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	6821709	150648119	8490544	137	7649											
GALNTL5	168391	broad.mit.edu	37	chr7	151711769	151711769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctttataatcccctgctCtcgagtaggacatatcagta	11	13	6	11	1	3	0	1	0	2	0	5	2	4	1	2	1	1	3	2	1	5	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:151711769C>G	ENST00000392800.2	+	8	1321	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	GALNTL5_ENST00000431418.2_Missense_Mutation_p.S356C	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	356	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATCCCCTGCTCTCGAGTAGGA	0.413													34	52					0	0	0	0	G	151711769	C	G	151711769	3	3	40	1	0	0	0	0	1	0	0	0	6273	913	32	2	1093	2	GALNTL5	7	151711769	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	1063650	151711769	7426894	138	7650											
VIPR2	7434	broad.mit.edu	37	chr7	158823439	158823439	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcccggctcgcggacggggtCgggcaccggcttcgccattt	3	8	15	15	7	0	0	0	0	0	0	4	1	1	1	3	6	0	3	3	6	0	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:158823439C>G	ENST00000262178.2	-	13	1370	c.1185G>C	c.(1183-1185)ccG>ccC	p.P395P	VIPR2_ENST00000377633.3_Silent_p.P379P|VIPR2_ENST00000402066.1_Silent_p.P536P	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	395					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CGGACGGGGTCGGGCACCGGC	0.706													4	7					0	0	0	0	G	158823439	C	G	158823439	2	3	40	1	0	0	0	0	0	0	0	1	17266	871	31	3		3	VIPR2	7	158823439	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	7111670	158823439	315224	139	7651											
MTMR7	9108	broad.mit.edu	37	chr8	17228648	17228648	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcttgcagcgaatcagcaGagggcatccggtagcggttg	8	9	15	9	3	2	1	1	0	1	1	3	2	3	1	1	3	4	6	1	3	2	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:17228648G>C	ENST00000180173.5	-	3	242	c.208C>G	c.(208-210)Ctg>Gtg	p.L70V	MTMR7_ENST00000521857.1_Missense_Mutation_p.L70V	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	70							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CGAATCAGCAGAGGGCATCCG	0.453													6	94					0	0	0	0	C	17228648	G	C	17228648	3	2	40	1	0	0	0	0	1	0	0	0	10018	933	33	2	1822	2	MTMR7	8	17228648	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08		17228648	129135374	140	7652											
MTUS1	57509	broad.mit.edu	37	chr8	17613105	17613105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacaccctgaaggcttaaaGaaatattttcaccagtaact	16	10	5	10	0	1	2	1	1	0	1	1	2	1	2	2	1	2	2	2	1	7	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:17613105G>A	ENST00000381869.3	-	2	685	c.212C>T	c.(211-213)tCt>tTt	p.S71F	MTUS1_ENST00000262102.6_Missense_Mutation_p.S71F|MTUS1_ENST00000519263.1_Missense_Mutation_p.S71F|MTUS1_ENST00000381862.3_Missense_Mutation_p.S71F	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	71						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		p.S71Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AAGGCTTAAAGAAATATTTTC	0.388													6	76					0	0	0	0	A	17613105	G	A	17613105	3	1	40	1	0	0	0	0	1	0	0	0	10035	942	33	2	3975	2	MTUS1	8	17613105	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	384457	17613105	128750917	141	7653											
SLC39A14	23516	broad.mit.edu	37	chr8	22262337	22262337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccctgggtgcaccagctatCagcgctgcctccttcctgca	5	10	9	17	1	1	0	1	0	0	0	4	0	4	0	5	1	5	4	5	1	1	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:22262337C>G	ENST00000381237.1	+	2	233	c.114C>G	c.(112-114)atC>atG	p.I38M	SLC39A14_ENST00000240095.6_Missense_Mutation_p.I38M|SLC39A14_ENST00000359741.5_Missense_Mutation_p.I38M|SLC39A14_ENST00000289952.5_Missense_Mutation_p.I38M	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	38						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CACCAGCTATCAGCGCTGCCT	0.602													3	76					0	0	0	0	G	22262337	C	G	22262337	3	3	40	1	0	0	0	0	1	0	0	0	14705	816	29	2	116	2	SLC39A14	8	22262337	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	4649232	22262337	124101685	142	7654											
ANK1	286	broad.mit.edu	37	chr8	41545690	41545690	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcacctgcccagctgagaccGaggtgctctgagataacagc	10	7	11	13	1	2	2	1	2	1	2	2	5	2	2	3	1	5	2	3	1	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:41545690G>C	ENST00000396942.1	-	35	4325	c.4242C>G	c.(4240-4242)ctC>ctG	p.L1414L	ANK1_ENST00000265709.8_Silent_p.L1455L|ANK1_ENST00000396945.1_Silent_p.L1414L|ANK1_ENST00000352337.4_Silent_p.L1414L|ANK1_ENST00000379758.2_Silent_p.L1414L|ANK1_ENST00000347528.4_Silent_p.L1414L|ANK1_ENST00000289734.7_Silent_p.L1414L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1414	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGCTGAGACCGAGGTGCTCTG	0.512													76	43					0	0	0	0	C	41545690	G	C	41545690	2	2	40	1	0	0	0	0	0	0	0	1	620	1045	37	3		3	ANK1	8	41545690	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	19283353	41545690	104818332	143	7655											
NSMAF	8439	broad.mit.edu	37	chr8	59522253	59522253	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaggcgtcaccatttctgcTttgcattccatgtgcagctt	7	14	9	11	1	2	1	1	0	1	1	3	1	3	1	2	1	4	4	2	1	0	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:59522253T>C	ENST00000038176.3	-	10	809	c.597A>G	c.(595-597)aaA>aaG	p.K199K	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Silent_p.K230K	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	199	GRAM.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CCATTTCTGCTTTGCATTCCA	0.428													57	32					0	0	0	0	C	59522253	T	C	59522253	2	2	40	1	0	0	0	0	0	0	0	1	10745	1606	56	5		5	NSMAF	8	59522253	Silent	SNP	T	TCGA-BB-4227-01A-01D-1870-08	17976563	59522253	86841769	144	7656											
ARFGEF1	10565	broad.mit.edu	37	chr8	68208741	68208741	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggctgttgtctgattgatGagatttttgcttgctaagta	7	19	11	4	0	1	3	0	3	1	1	1	4	1	3	0	1	2	5	0	1	2	8			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:68208741G>A	ENST00000262215.3	-	5	953	c.564C>T	c.(562-564)ctC>ctT	p.L188L		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	188					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCTGATTGATGAGATTTTTGC	0.378													42	101					0	0	0	0	A	68208741	G	A	68208741	2	1	40	1	0	0	0	0	0	0	0	1	854	1277	45	2		2	ARFGEF1	8	68208741	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	8686488	68208741	78155281	145	7657											
SULF1	23213	broad.mit.edu	37	chr8	70539481	70539481	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgactctatccattgtgaGagagaactgtaccaatcggc	13	10	9	9	1	1	3	0	2	1	2	3	5	2	3	2	1	2	1	2	1	5	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:70539481G>C	ENST00000260128.4	+	16	2604	c.1887G>C	c.(1885-1887)gaG>gaC	p.E629D	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.E629D|SULF1_ENST00000458141.2_Missense_Mutation_p.E629D|SULF1_ENST00000402687.4_Missense_Mutation_p.E629D	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	629					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCCATTGTGAGAGAGAACTGT	0.388													8	64					0	0	0	0	C	70539481	G	C	70539481	3	2	40	1	0	0	0	0	1	0	0	0	15460	933	33	2	1933	2	SULF1	8	70539481	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	2330740	70539481	75824541	146	7658											
CNGB3	54714	broad.mit.edu	37	chr8	87645092	87645092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccaatggtaattaaagttCgaactgcccaataataacat	17	10	5	9	1	0	0	0	0	0	0	1	1	0	0	2	1	3	2	2	1	8	5	rs147876778	byFrequency	TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:87645092C>T	ENST00000320005.5	-	11	1255	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	403			R -> Q (in macular degeneration).		signal transduction|visual perception	integral to membrane	cGMP binding	p.R403P(1)|p.R403L(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AATTAAAGTTCGAACTGCCCA	0.328													18	42					0	0	0	0	T	87645092	C	T	87645092	3	4	40	1	0	0	0	0	1	0	0	0	3631	884	31	1	1253	1	CNGB3	8	87645092	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	17105611	87645092	58718930	147	7659											
ESRP1	54845	broad.mit.edu	37	chr8	95653588	95653588	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtggtgctttttgggatCactgctggggccaccggggc	3	12	17	9	1	1	0	1	0	0	0	1	1	1	1	2	7	2	2	2	7	0	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:95653588C>T	ENST00000433389.2	+	1	232	c.42C>T	c.(40-42)atC>atT	p.I14I	ESRP1_ENST00000423620.2_Silent_p.I14I|ESRP1_ENST00000454170.2_Silent_p.I14I|ESRP1_ENST00000358397.5_Silent_p.I14I	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	14					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TTTTTGGGATCACTGCTGGGG	0.587													10	88					0	0	0	0	T	95653588	C	T	95653588	2	4	40	1	0	0	0	0	0	0	0	1	5296	816	29	2		2	ESRP1	8	95653588	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	8008496	95653588	50710434	148	7660											
ABRA	137735	broad.mit.edu	37	chr8	107782023	107782023	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaagcacaccagcatccctCtcgtacctgtggctgaggtg	8	9	10	14	1	2	1	1	1	1	0	4	1	3	1	3	2	3	4	3	2	2	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:107782023C>T	ENST00000311955.3	-	1	450	c.396G>A	c.(394-396)gaG>gaA	p.E132E		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	132					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CAGCATCCCTCTCGTACCTGT	0.542													62	155					0	0	0	0	T	107782023	C	T	107782023	2	4	40	1	0	0	0	0	0	0	0	1	100	912	32	2		2	ABRA	8	107782023	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	12128435	107782023	38581999	149	7661											
KCNV1	27012	broad.mit.edu	37	chr8	110980590	110980590	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcccgataatatacacatGaaggccacgattttgcctgt	12	12	7	10	2	0	1	0	1	0	0	1	3	1	1	3	1	2	0	3	1	4	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:110980590G>A	ENST00000524391.1	-	4	2262	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	KCNV1_ENST00000297404.1_Silent_p.F410F			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	410						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATATACACATGAAGGCCACGA	0.478													39	123					0	0	0	0	A	110980590	G	A	110980590	2	1	40	1	0	0	0	0	0	0	0	1	8147	1281	45	2		2	KCNV1	8	110980590	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	3198567	110980590	35383432	150	7662											
TRIB1	10221	broad.mit.edu	37	chr8	126445719	126445719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcactcctatgtgcgaagccGgaagaggctgcgggaagagg	10	5	17	9	3	0	2	0	0	0	2	1	5	1	4	2	4	3	2	2	4	4	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:126445719G>A	ENST00000311922.3	+	2	1103	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000520847.1_Missense_Mutation_p.R8Q	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	174	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GTGCGAAGCCGGAAGAGGCTG	0.572													94	202					0	0	0	0	A	126445719	G	A	126445719	3	1	40	1	0	0	0	0	1	0	0	0	16577	1116	39	1	527	1	TRIB1	8	126445719	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	15465129	126445719	19918303	151	7663											
PUF60	22827	broad.mit.edu	37	chr8	144902849	144902849	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattgaccgattgcaaaggtGagagaggatctccaaagccc	13	8	11	9	1	1	3	0	2	1	1	2	6	1	4	3	2	2	1	3	2	3	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:144902849G>C	ENST00000526683.1	-	5	890	c.335C>G	c.(334-336)tCa>tGa	p.S112*	PUF60_ENST00000527197.1_Intron|PUF60_ENST00000349157.6_Intron|PUF60_ENST00000453551.2_Nonsense_Mutation_p.S69*|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_Nonsense_Mutation_p.S83*|PUF60_ENST00000313352.7_Intron	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	112	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTGCAAAGGTGAGAGAGGATC	0.547													78	246					0	0	0	0	C	144902849	G	C	144902849	4	2	40	1	0	0	0	0	0	1	0	0	12906	1294	45	2	1376	2	PUF60	8	144902849	Nonsense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	18457130	144902849	1461173	152	7664											
PLEC	5339	broad.mit.edu	37	chr8	144990596	144990596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtggactgcgcggcagcctCcagcagccgcagccccgtgc	5	4	15	17	4	0	0	0	0	0	0	1	1	1	1	5	3	6	3	5	3	0	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:144990596C>G	ENST00000322810.4	-	32	13973	c.13804G>C	c.(13804-13806)Gag>Cag	p.E4602Q	PLEC_ENST00000345136.3_Missense_Mutation_p.E4465Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E4433Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E4465Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E4488Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E4443Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E4492Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E4451Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E4469Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4602	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGGCAGCCTCCAGCAGCCGC	0.677													57	151					0	0	0	0	G	144990596	C	G	144990596	3	3	40	1	0	0	0	0	1	0	0	0	12124	864	30	2	254	2	PLEC	8	144990596	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	87747	144990596	1373426	153	7665											
PARP10	84875	broad.mit.edu	37	chr8	145052088	145052088	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctcaccgttgcggccgcaGaagctgcggttgaagccgtg	6	7	15	13	5	1	2	1	1	0	1	1	2	1	2	4	2	4	4	4	2	2	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:145052088G>C	ENST00000313028.7	-	10	2812	c.2718C>G	c.(2716-2718)ttC>ttG	p.F906L	PARP10_ENST00000525773.1_Missense_Mutation_p.F918L|PARP10_ENST00000524918.1_Missense_Mutation_p.F897L	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	906	Myc binding.|PARP catalytic.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCGGCCGCAGAAGCTGCGGT	0.721													7	38					0	0	0	0	C	145052088	G	C	145052088	3	2	40	1	0	0	0	0	1	0	0	0	11526	933	33	2	367	2	PARP10	8	145052088	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	61492	145052088	1311934	154	7666											
NTRK2	4915	broad.mit.edu	37	chr9	87636301	87636301	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcaagggcatccataccctCcttcagaacttggccaaggc	11	8	8	14	0	2	1	2	0	0	1	4	1	4	1	4	3	2	1	4	3	4	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr9:87636301C>G	ENST00000376214.1	+	21	3404	c.2466C>G	c.(2464-2466)ctC>ctG	p.L822L	NTRK2_ENST00000323115.4_Silent_p.L806L|NTRK2_ENST00000277120.3_Silent_p.L822L|NTRK2_ENST00000376213.1_Silent_p.L806L	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	806					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TCCATACCCTCCTTCAGAACT	0.597										TSP Lung(25;0.17)			88	16					0	0	0	0	G	87636301	C	G	87636301	2	3	40	1	0	0	0	0	0	0	0	1	10778	842	30	2		2	NTRK2	9	87636301	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08		87636301	53577130	155	7667											
DAB2IP	153090	broad.mit.edu	37	chr9	124530800	124530800	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcgcttcctgctggagatctCcaaccccgagaccctctcca	7	8	8	18	2	2	2	0	0	2	2	5	4	3	2	6	1	2	2	6	1	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr9:124530800C>G	ENST00000408936.3	+	10	1969	c.1787C>G	c.(1786-1788)tCc>tGc	p.S596C	DAB2IP_ENST00000259371.2_Missense_Mutation_p.S568C|DAB2IP_ENST00000309989.1_Missense_Mutation_p.S472C			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	596					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGGAGATCTCCAACCCCGAG	0.587													5	141					0	0	0	0	G	124530800	C	G	124530800	3	3	40	1	0	0	0	0	1	0	0	0	4252	855	30	2	1741	2	DAB2IP	9	124530800	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	36894499	124530800	16682631	156	7668											
OR1B1	347169	broad.mit.edu	37	chr9	125391590	125391590	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggcagtgtaactgtggaTagccccatgtctatcacaga	10	10	12	9	0	2	1	1	0	1	1	2	2	2	2	2	3	2	2	2	3	3	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr9:125391590T>G	ENST00000304833.3	-	1	262	c.225A>C	c.(223-225)ctA>ctC	p.L75L	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						TAACTGTGGATAGCCCCATGT	0.522													48	10					0	0	0	0	G	125391590	T	G	125391590	2	3	40	1	0	0	0	0	0	0	0	1	11022	1393	49	5		5	OR1B1	9	125391590	Silent	SNP	T	TCGA-BB-4227-01A-01D-1870-08	860790	125391590	15821841	157	7669											
TTF1	7270	broad.mit.edu	37	chr9	135266215	135266215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactccaagcaccacgatttCtttctgtagatataaaaaga	15	12	5	9	1	2	2	0	0	2	2	3	3	3	2	2	0	2	2	2	0	7	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr9:135266215C>G	ENST00000334270.2	-	7	2030	c.1991G>C	c.(1990-1992)aGa>aCa	p.R664T		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	664	Myb-like 2.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACCACGATTTCTTTCTGTAGA	0.358													107	26					0	0	0	0	G	135266215	C	G	135266215	3	3	40	1	0	0	0	0	1	0	0	0	16814	913	32	2	746	2	TTF1	9	135266215	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	9874625	135266215	5947216	158	7670											
RNF208	727800	broad.mit.edu	37	chr9	140114909	140114909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagcaggcggacagtgggttCcgcacgtggcaggtgcacgc	7	5	18	11	4	0	0	0	0	0	0	1	2	1	1	1	5	2	5	1	5	0	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr9:140114909C>T	ENST00000392827.1	-	2	924	c.756G>A	c.(754-756)cgG>cgA	p.R252R	RNF208_ENST00000391553.1_Silent_p.R252R			Q9H0X6	RN208_HUMAN	ring finger protein 208	252							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACAGTGGGTTCCGCACGTGGC	0.701													17	8					0	0	0	0	T	140114909	C	T	140114909	2	4	40	1	0	0	0	0	0	0	0	1	13560	842	30	2		2	RNF208	9	140114909	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	4848694	140114909	1098522	159	7671											
EXD3	54932	broad.mit.edu	37	chr9	140249213	140249213	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgctgctgaatggccgcgTtgggacacagcgctgaaagg	8	6	17	10	4	0	2	0	2	0	0	0	3	0	3	1	4	2	4	1	4	2	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr9:140249213T>C	ENST00000340951.4	-	9	965	c.770A>G	c.(769-771)aAc>aGc	p.N257S	EXD3_ENST00000342129.4_5'UTR	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	257					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AATGGCCGCGTTGGGACACAG	0.697													28	5					0	0	0	0	C	140249213	T	C	140249213	3	2	40	1	0	0	0	0	1	0	0	0	5336	1725	60	5	1916	5	EXD3	9	140249213	Missense_Mutation	SNP	T	TCGA-BB-4227-01A-01D-1870-08	134304	140249213	964218	160	7672											
UPF2	26019	broad.mit.edu	37	chr10	12070767	12070767	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttgtctctcagtattctgGagctccctgtggtccctttt	3	19	8	11	0	3	0	1	0	2	0	6	1	5	1	2	2	1	2	2	2	1	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:12070767G>C	ENST00000356352.2	-	2	1595	c.1122C>G	c.(1120-1122)ctC>ctG	p.L374L	UPF2_ENST00000397053.2_Silent_p.L374L|UPF2_ENST00000357604.5_Silent_p.L374L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	374	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CAGTATTCTGGAGCTCCCTGT	0.373													37	43					0	0	0	0	C	12070767	G	C	12070767	2	2	40	1	0	0	0	0	0	0	0	1	17100	1161	41	2		2	UPF2	10	12070767	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08		12070767	123463980	161	7673											
STAM	8027	broad.mit.edu	37	chr10	17737124	17737124	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatccaagcacatccagtctCttaactaaccaccaacatga	15	9	3	14	0	1	1	0	1	1	0	4	1	3	1	4	0	4	1	4	0	5	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:17737124C>T	ENST00000377524.3	+	7	827	c.612C>T	c.(610-612)ctC>ctT	p.L204L	STAM_ENST00000540523.1_Silent_p.L93L	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	204					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CATCCAGTCTCTTAACTAACC	0.388													30	51					0	0	0	0	T	17737124	C	T	17737124	2	4	40	1	0	0	0	0	0	0	0	1	15338	900	32	2		2	STAM	10	17737124	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	5666357	17737124	117797623	162	7674											
ARMC4	55130	broad.mit.edu	37	chr10	28151401	28151401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caataaaggaacaactccatGatctgtgataacagctaaat	18	9	6	8	0	1	2	0	2	1	0	2	3	2	3	1	1	4	1	1	1	8	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:28151401G>A	ENST00000305242.5	-	18	2853	c.2761C>T	c.(2761-2763)Cat>Tat	p.H921Y	ARMC4_ENST00000537576.1_Missense_Mutation_p.H613Y|ARMC4_ENST00000545014.1_Missense_Mutation_p.H446Y	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	921							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACAACTCCATGATCTGTGATA	0.348													50	90					0	0	0	0	A	28151401	G	A	28151401	3	1	40	1	0	0	0	0	1	0	0	0	957	1290	45	2	385	2	ARMC4	10	28151401	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	10414277	28151401	107383346	163	7675											
ARMC4	55130	broad.mit.edu	37	chr10	28151529	28151529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttccaaaccaccaacaaagGaacgaaccatttccccagca	16	5	5	15	1	0	0	0	0	0	0	2	2	2	1	6	1	5	2	6	1	5	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:28151529G>T	ENST00000305242.5	-	18	2725	c.2633C>A	c.(2632-2634)tCc>tAc	p.S878Y	ARMC4_ENST00000537576.1_Missense_Mutation_p.S570Y|ARMC4_ENST00000545014.1_Missense_Mutation_p.S403Y	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	878							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACCAACAAAGGAACGAACCAT	0.348													15	17					4.7546e-09	4.9263e-09	1	0	T	28151529	G	T	28151529	3	4	40	1	0	0	0	0	1	0	0	0	957	1174	41	2	513	2	ARMC4	10	28151529	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	128	28151529	107383218	164	7676											
ANK3	288	broad.mit.edu	37	chr10	61822996	61822996	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgattaatttttgtcaagacCgaagttaaggcatcagctga	13	12	9	7	2	2	2	2	1	0	1	2	4	2	2	1	1	1	3	1	1	4	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:61822996C>T	ENST00000280772.1	-	40	12659	c.12468G>A	c.(12466-12468)tcG>tcA	p.S4156S	ANK3_ENST00000355288.2_Silent_p.S677S|ANK3_ENST00000503366.1_Silent_p.S1544S|ANK3_ENST00000373827.2_Silent_p.S1537S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4156	Death.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGTCAAGACCGAAGTTAAGG	0.348													12	15					0	0	0	0	T	61822996	C	T	61822996	2	4	40	1	0	0	0	0	0	0	0	1	622	639	23	1		1	ANK3	10	61822996	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	33671467	61822996	73711751	165	7677											
MYPN	84665	broad.mit.edu	37	chr10	69881286	69881286	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacatcggggaaacaatGagaggagtcgagcggagccc	13	3	15	10	3	0	2	0	1	0	2	2	7	0	5	2	4	3	0	2	4	2	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:69881286G>T	ENST00000358913.5	+	2	579	c.91G>T	c.(91-93)Gag>Tag	p.E31*	MYPN_ENST00000540630.1_Nonsense_Mutation_p.E31*|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Nonsense_Mutation_p.E31*	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	31	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGGAAACAATGAGAGGAGTCG	0.522													13	73					9.31168e-06	9.5682e-06	1	0	T	69881286	G	T	69881286	4	4	40	1	0	0	0	0	0	1	0	0	10168	1291	45	2	93	2	MYPN	10	69881286	Nonsense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	8058290	69881286	65653461	166	7678											
SAMD8	142891	broad.mit.edu	37	chr10	76928341	76928341	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtagtctgatgggaactgtAttcttgcttcgctgctttac	6	17	10	8	1	2	1	0	1	2	0	3	2	2	2	0	1	4	5	0	1	4	7			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:76928341A>G	ENST00000542569.1	+	4	820	c.717A>G	c.(715-717)gtA>gtG	p.V239V	SAMD8_ENST00000372687.3_Silent_p.V239V|SAMD8_ENST00000372690.3_Silent_p.V302V	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	239					sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGGGAACTGTATTCTTGCTTC	0.458													82	136					0	0	0	0	G	76928341	A	G	76928341	2	3	40	1	0	0	0	0	0	0	0	1	13910	436	16	5		5	SAMD8	10	76928341	Silent	SNP	A	TCGA-BB-4227-01A-01D-1870-08	7047055	76928341	58606406	167	7679											
GSTO1	9446	broad.mit.edu	37	chr10	106019428	106019428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagttctggaaaacagtcagGgtcagctgatctacgagtct	11	10	11	9	1	5	1	2	1	3	0	5	3	5	2	0	2	3	2	0	2	3	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:106019428G>A	ENST00000539281.1	+	3	510	c.154G>A	c.(154-156)Ggt>Agt	p.G52S	GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Missense_Mutation_p.G80S|GSTO1_ENST00000369713.5_Missense_Mutation_p.G80S	NM_001191003.1	NP_001177932.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	80	GST N-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	AAACAGTCAGGGTCAGCTGAT	0.468													43	63					0	0	0	0	A	106019428	G	A	106019428	3	1	40	1	0	0	0	0	1	0	0	0	6892	1232	43	4	248	4	GSTO1	10	106019428	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	29091087	106019428	29515319	168	7680											
UBQLN3	50613	broad.mit.edu	37	chr11	5529368	5529368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggggatggcagccagggaGgctcagggattccaggaatg	9	5	18	9	1	1	0	1	0	0	0	2	4	2	4	3	7	1	2	3	7	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:5529368G>T	ENST00000311659.4	-	2	1568	c.1421C>A	c.(1420-1422)cCt>cAt	p.P474H	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	474										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCCAGGGAGGCTCAGGGAT	0.552													29	18					3.65163e-15	3.89159e-15	1	0	T	5529368	G	T	5529368	3	4	40	1	0	0	0	0	1	0	0	0	16994	1000	35	4	550	4	UBQLN3	11	5529368	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08		5529368	129477148	169	7681											
OR52B2	255725	broad.mit.edu	37	chr11	6191434	6191434	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcaggatgctgtttcccagGactgcagtgatgtaaatgag	11	11	12	7	0	1	2	1	2	0	0	2	4	2	4	1	2	2	4	1	2	2	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:6191434G>A	ENST00000530810.1	-	1	204	c.123C>T	c.(121-123)gtC>gtT	p.V41V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTTCCCAGGACTGCAGTGA	0.478													34	17					0	0	0	0	A	6191434	G	A	6191434	2	1	40	1	0	0	0	0	0	0	0	1	11182	1161	41	2		2	OR52B2	11	6191434	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	662066	6191434	128815082	170	7682											
APBB1	322	broad.mit.edu	37	chr11	6422239	6422239	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacaggtttagcaacaggtAcattccccaggtaatagact	14	9	8	10	0	0	1	0	0	0	1	1	1	1	1	2	3	4	4	2	3	6	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:6422239A>G	ENST00000389906.2	-	11	1751	c.1652T>C	c.(1651-1653)gTa>gCa	p.V551A	APBB1_ENST00000311051.3_Missense_Mutation_p.V549A|APBB1_ENST00000299402.6_Missense_Mutation_p.V549A|APBB1_ENST00000530885.1_Missense_Mutation_p.V329A|APBB1_ENST00000524626.1_5'UTR	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	551	PID 2.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGCAACAGGTACATTCCCCAG	0.478													9	216					0	0	0	0	G	6422239	A	G	6422239	3	3	40	1	0	0	0	0	1	0	0	0	760	391	14	5	496	5	APBB1	11	6422239	Missense_Mutation	SNP	A	TCGA-BB-4227-01A-01D-1870-08	230805	6422239	128584277	171	7683											
MICAL2	9645	broad.mit.edu	37	chr11	12248645	12248645	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatttctaataactatctCaacctcacatttccaaggaa	14	13	2	12	0	3	0	2	0	2	0	6	1	5	1	3	1	2	0	3	1	6	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:12248645C>G	ENST00000256194.4	+	15	2250	c.1962C>G	c.(1960-1962)ctC>ctG	p.L654L	MICAL2_ENST00000527546.1_Silent_p.L654L|MICAL2_ENST00000342902.5_Silent_p.L654L|MICAL2_ENST00000537344.1_Silent_p.L654L|MICAL2_ENST00000379612.3_Silent_p.L654L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	654						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.L654L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATAACTATCTCAACCTCACAT	0.443													15	7					0	0	0	0	G	12248645	C	G	12248645	2	3	40	1	0	0	0	0	0	0	0	1	9639	813	29	2		2	MICAL2	11	12248645	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	5826406	12248645	122757871	172	7684											
CSTF3	1479	broad.mit.edu	37	chr11	33182907	33182907	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caacgtgcgcactgaccgtcGatgggaagctagaaaagaaa	15	5	12	9	4	0	3	0	1	0	2	1	5	0	4	1	1	3	2	1	1	6	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:33182907G>C	ENST00000323959.4	-	0	104				CSTF3_ENST00000438862.2_De_novo_Start_OutOfFrame|CSTF3_ENST00000526480.1_5'UTR|CSTF3_ENST00000524827.1_De_novo_Start_OutOfFrame|CSTF3_ENST00000431742.2_De_novo_Start_OutOfFrame	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa						mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ACTGACCGTCGATGGGAAGCT	0.557											OREG0020867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	20					0	0	0	0	C	33182907	G	C	33182907	1	2	40	1	0	0	0	0	0	0	0	0	4018	1073	37	3		3	CSTF3	11	33182907	Translation_Start_Site	SNP	G	TCGA-BB-4227-01A-01D-1870-08	20934262	33182907	101823609	173	7685											
CREB3L1	90993	broad.mit.edu	37	chr11	46341831	46341831	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccagtgccctcccgaagcctCctattctacgatgacggggc	7	8	10	16	3	1	1	0	1	1	0	3	3	3	1	5	2	3	0	5	2	3	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:46341831C>G	ENST00000529193.1	+	11	1726	c.1275C>G	c.(1273-1275)ctC>ctG	p.L425L	CREB3L1_ENST00000534616.1_3'UTR|CREB3L1_ENST00000288400.3_Silent_p.L425L			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	425					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CCCGAAGCCTCCTATTCTACG	0.617			T	FUS	myxofibrosarcoma								13	29					0	0	0	0	G	46341831	C	G	46341831	2	3	40	1	0	0	0	0	0	0	0	1	3886	842	30	2		2	CREB3L1	11	46341831	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	13158924	46341831	88664685	174	7686											
PTPMT1	114971	broad.mit.edu	37	chr11	47587500	47587500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcggggtgatcaccatgaacGaggagtacgagacgaggttc	11	6	16	8	4	1	3	1	2	0	1	2	7	1	4	1	4	2	2	1	4	2	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:47587500G>C	ENST00000534775.1	+	1	491	c.326G>C	c.(325-327)cGa>cCa	p.R109P	PTPMT1_ENST00000426530.2_Missense_Mutation_p.R109P|PTPMT1_ENST00000326674.9_Missense_Mutation_p.E73Q|PTPMT1_ENST00000527079.2_3'UTR|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000326656.8_Missense_Mutation_p.E73Q			Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	0	Tyrosine-protein phosphatase.				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						CACCATGAACGAGGAGTACGA	0.677													14	58					0	0	0	0	C	47587500	G	C	47587500	3	2	40	1	0	0	0	0	1	0	0	0	12858	1059	37	3	328	3	PTPMT1	11	47587500	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	1245669	47587500	87419016	175	7687											
OR8H1	219469	broad.mit.edu	37	chr11	56058397	56058397	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggtccaggcggattaTcaatatcatccccacattgc	10	10	9	12	1	2	0	2	0	0	0	4	2	4	2	3	4	1	0	3	4	3	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:56058397T>G	ENST00000313022.2	-	1	169	c.142A>C	c.(142-144)Ata>Cta	p.I48L		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGGCGGATTATCAATATCATC	0.423													75	201					0	0	0	0	G	56058397	T	G	56058397	3	3	40	1	0	0	0	0	1	0	0	0	11308	1435	50	5	795	5	OR8H1	11	56058397	Missense_Mutation	SNP	T	TCGA-BB-4227-01A-01D-1870-08	8470897	56058397	78948119	176	7688											
UBXN1	51035	broad.mit.edu	37	chr11	62445293	62445293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccctctcgatcttttctCtaactctttgtctgaaatgt	6	19	5	11	1	5	1	0	1	5	0	8	2	6	1	1	0	1	0	1	0	2	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:62445293C>T	ENST00000294119.2	-	6	625	c.494G>A	c.(493-495)aGa>aAa	p.R165K	UBXN1_ENST00000301935.5_Missense_Mutation_p.R165K|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000533000.1_Missense_Mutation_p.R23K|UBXN1_ENST00000529640.1_Missense_Mutation_p.R161K	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	165	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						GATCTTTTCTCTAACTCTTTG	0.433													50	105					0	0	0	0	T	62445293	C	T	62445293	3	4	40	1	0	0	0	0	1	0	0	0	17007	913	32	2	456	2	UBXN1	11	62445293	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	6386896	62445293	72561223	177	7689											
RASGRP2	10235	broad.mit.edu	37	chr11	64507521	64507521	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgatactccaagtaggtGagatgctccgccagctccat	10	8	11	12	2	0	1	0	1	0	1	3	4	3	1	4	1	4	3	4	1	3	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:64507521G>T	ENST00000377494.1	-	5	1408	c.486C>A	c.(484-486)ctC>ctA	p.L162L	RASGRP2_ENST00000394432.3_Silent_p.L162L|RASGRP2_ENST00000354024.3_Silent_p.L162L|RASGRP2_ENST00000377497.3_Silent_p.L162L			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	162	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAAGTAGGTGAGATGCTCCG	0.607													12	82					5.16669e-11	5.45942e-11	1	0	T	64507521	G	T	64507521	2	4	40	1	0	0	0	0	0	0	0	1	13157	1277	45	2		2	RASGRP2	11	64507521	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	2062228	64507521	70498995	178	7690											
SF1	7536	broad.mit.edu	37	chr11	64534668	64534668	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagacagccattacctttTccttgatgcaggcgatagac	11	10	9	11	1	0	3	0	1	0	2	1	4	1	3	3	1	4	2	3	1	2	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:64534668T>C	ENST00000377394.3	-	11	1756	c.1402A>G	c.(1402-1404)Aaa>Gaa	p.K468E	SF1_ENST00000377387.1_Silent_p.G591G|SF1_ENST00000377390.3_Silent_p.G466G|SF1_ENST00000334944.5_Silent_p.G466G|SF1_ENST00000227503.9_Silent_p.G466G|SF1_ENST00000422298.2_Silent_p.G351G|SF1_ENST00000433274.2_Silent_p.G440G	NM_201997.2	NP_973726.2	Q15637	SF01_HUMAN	splicing factor 1	0	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA 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						CATTACCTTTTCCTTGATGCA	0.562													40	61					0	0	0	0	C	64534668	T	C	64534668	3	2	40	1	0	0	0	0	1	0	0	0	14232	1792	62	5	667	5	SF1	11	64534668	Missense_Mutation	SNP	T	TCGA-BB-4227-01A-01D-1870-08	27147	64534668	70471848	179	7691											
SHANK2	22941	broad.mit.edu	37	chr11	70332212	70332212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaagtccacggatgccaGagggggaggagggatgcgga	11	4	18	8	2	0	1	0	0	0	1	2	6	2	6	3	6	2	0	3	6	1	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:70332212G>T	ENST00000338508.4	-	32	4188	c.4189C>A	c.(4189-4191)Ctg>Atg	p.L1397M	SHANK2_ENST00000409161.1_Missense_Mutation_p.L800M|SHANK2_ENST00000449833.2_Missense_Mutation_p.L801M|SHANK2_ENST00000423696.2_Missense_Mutation_p.L1017M			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1017					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACGGATGCCAGAGGGGGAGGA	0.582													34	457					4.92203e-23	5.29082e-23	1	0	T	70332212	G	T	70332212	3	4	40	1	0	0	0	0	1	0	0	0	14353	933	33	2	1371	2	SHANK2	11	70332212	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	5797544	70332212	64674304	180	7692											
DLG2	1740	broad.mit.edu	37	chr11	84245714	84245714	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gagttctgggcctcttacttCgtgggttagtcgaggtaagg	6	13	15	7	2	2	0	0	0	2	0	4	2	2	0	1	4	1	3	1	4	3	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:84245714C>G	ENST00000398309.2	-	2	573	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	DLG2_ENST00000524982.1_Missense_Mutation_p.E35Q|DLG2_ENST00000376104.2_Missense_Mutation_p.E140Q|DLG2_ENST00000532653.1_Missense_Mutation_p.E35Q|DLG2_ENST00000543673.1_Missense_Mutation_p.E140Q	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	35						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCTCTTACTTCGTGGGTTAGT	0.398													47	83					0	0	0	0	G	84245714	C	G	84245714	3	3	40	1	0	0	0	0	1	0	0	0	4592	893	31	3	2756	3	DLG2	11	84245714	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	13913502	84245714	50760802	181	7693											
BIRC2	329	broad.mit.edu	37	chr11	102233700	102233700	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagatatcctcatcttcttGaacaggtaaatacattttta	13	16	5	7	0	3	2	1	1	2	1	4	2	4	2	1	1	2	2	1	1	7	9			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:102233700G>C	ENST00000227758.2	+	4	2468	c.1069G>C	c.(1069-1071)Gaa>Caa	p.E357Q	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.E308Q|BIRC2_ENST00000532672.1_Missense_Mutation_p.E336Q	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	357					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TCATCTTCTTGAACAGGTAAA	0.279													8	184					0	0	0	0	C	102233700	G	C	102233700	3	2	40	1	0	0	0	0	1	0	0	0	1440	1291	45	2	1079	2	BIRC2	11	102233700	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	17987986	102233700	32772816	182	7694											
MMP27	64066	broad.mit.edu	37	chr11	102562560	102562560	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaataaacaagcttaaactCttatgatacaatatctttat	19	14	2	6	0	2	1	0	1	2	0	2	1	2	1	0	0	4	1	0	0	12	7			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:102562560C>G	ENST00000260229.4	-	10	1570	c.1479G>C	c.(1477-1479)aaG>aaC	p.K493N		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	493					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		AGCTTAAACTCTTATGATACA	0.299													32	585					0	0	0	0	G	102562560	C	G	102562560	3	3	40	1	0	0	0	0	1	0	0	0	9734	912	32	2	66	2	MMP27	11	102562560	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	328860	102562560	32443956	183	7695											
MMP8	4317	broad.mit.edu	37	chr11	102592421	102592421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgagaggtgatgcaacactCcagagttcaaaggcatcctt	13	9	10	9	0	1	3	1	2	0	2	3	4	3	3	2	2	2	3	2	2	2	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:102592421C>G	ENST00000236826.3	-	3	518	c.420G>C	c.(418-420)tgG>tgC	p.W140C		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	140					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ATGCAACACTCCAGAGTTCAA	0.448													21	350					0	0	0	0	G	102592421	C	G	102592421	3	3	40	1	0	0	0	0	1	0	0	0	9738	856	30	2	1015	2	MMP8	11	102592421	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	29861	102592421	32414095	184	7696											
MMP1	4312	broad.mit.edu	37	chr11	102666324	102666324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagttcatgagctgcaacacGatgtaagttgtactctaaaa	14	11	9	7	1	2	1	1	1	1	0	2	3	2	1	0	0	4	6	0	0	5	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:102666324G>A	ENST00000315274.6	-	5	707	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	214	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R214S(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GCTGCAACACGATGTAAGTTG	0.368													15	168					0	0	0	0	A	102666324	G	A	102666324	3	1	40	1	0	0	0	0	1	0	0	0	9717	1058	37	1	793	1	MMP1	11	102666324	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	73903	102666324	32340192	185	7697											
ARHGAP32	9743	broad.mit.edu	37	chr11	128844701	128844701	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actccaatgtctggtgggctCaagtcaacatcctcagctga	10	10	9	12	0	4	1	3	1	1	0	6	1	6	1	2	2	2	2	2	2	3	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:128844701C>T	ENST00000310343.9	-	20	2348	c.2349G>A	c.(2347-2349)ttG>ttA	p.L783L	ARHGAP32_ENST00000524655.1_Silent_p.L709L|ARHGAP32_ENST00000527272.1_Silent_p.L434L|ARHGAP32_ENST00000392657.3_Silent_p.L434L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	783					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGGTGGGCTCAAGTCAACAT	0.483													25	10					0	0	0	0	T	128844701	C	T	128844701	2	4	40	1	0	0	0	0	0	0	0	1	883	825	29	2		2	ARHGAP32	11	128844701	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	26178377	128844701	6161815	186	7698											
LRP6	4040	broad.mit.edu	37	chr12	12302048	12302048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatagggttgtatttccaGgttctgactcggaactgagc	8	13	12	8	1	2	2	1	2	1	0	4	3	3	3	1	3	2	3	1	3	3	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:12302048G>T	ENST00000261349.4	-	14	3110	c.3034C>A	c.(3034-3036)Ctg>Atg	p.L1012M	LRP6_ENST00000543091.1_Missense_Mutation_p.L1012M	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1012	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGTATTTCCAGGTTCTGACTC	0.428													94	147					1.41219e-46	1.53124e-46	1	0	T	12302048	G	T	12302048	3	4	40	1	0	0	0	0	1	0	0	0	9026	991	35	4	1847	4	LRP6	12	12302048	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08		12302048	121549847	187	7699											
KIAA1467	57613	broad.mit.edu	37	chr12	13221564	13221564	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tactttgtccttatttgcagCcagcctactcctggatattt	7	17	6	11	0	0	0	0	0	0	0	2	1	2	1	4	1	5	1	4	1	4	7			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:13221564C>T	ENST00000197268.8	+	9	1407	c.1286_splice	c.e9-1	p.S429_splice		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	429						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)		TTATTTGCAGCCAGCCTACTC	0.418													39	72					0	0	0	0	T	13221564	C	T	13221564	5	4	40	1	0	0	0	0	0	0	1	0	8286	753	26	4	1321	4	KIAA1467	12	13221564	Splice_Site	SNP	C	TCGA-BB-4227-01A-01D-1870-08	919516	13221564	120630331	188	7700											
PDE3A	5139	broad.mit.edu	37	chr12	20782960	20782977	+	In_Frame_Del	DEL	AACTGCCAAACAAAGCCT	AACTGCCAAACAAAGCCT	-																															tttccagaatctgctgacacAactgccaaacaaagcctagg																										TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:20782960_20782977delAACTGCCAAACAAAGCCT	ENST00000359062.3	+	6	1699_1716	c.1659_1676delAACTGCCAAACAAAGCCT	c.(1657-1677)aca>ac	p.TTAKQSL553del	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	553					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGCTGACACAACTGCCAAACAAAGCCTAGGTTCTCAC	0.5													9	144	---	---	---	---					-	20782977	AACTGCCAAACAAAGCCT	-	20782960	7	5	40	1	0	1	0	1	0	0	0	0	11708	117	5	0	1681	0	PDE3A	12	20782960	In_Frame_Del	DEL	AACTGCCAAACAAAGCCT	TCGA-BB-4227-01A-01D-1870-08	7561396	20782960	113068935	189	7701											
IRAK3	11213	broad.mit.edu	37	chr12	66603284	66603284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcaggaaggtggatttcCaaatatattattcaaggtag	14	14	9	4	0	2	0	2	0	0	0	3	2	3	2	1	4	0	1	1	4	8	7			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:66603284C>T	ENST00000261233.4	+	3	786	c.365C>T	c.(364-366)cCa>cTa	p.P122L	IRAK3_ENST00000457197.2_Missense_Mutation_p.P61L	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	122					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GGTGGATTTCCAAATATATTA	0.353													21	53					0	0	0	0	T	66603284	C	T	66603284	3	4	40	1	0	0	0	0	1	0	0	0	7877	594	21	4	375	4	IRAK3	12	66603284	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	45820324	66603284	67248611	190	7702											
KCNC2	3747	broad.mit.edu	37	chr12	75601539	75601539	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgccctcgaagcagccGcctggcccgggggacagcgg	5	2	17	17	6	0	0	0	0	0	0	1	2	0	1	5	4	3	1	5	4	1	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:75601539G>A	ENST00000549446.1	-	2	905	c.225C>T	c.(223-225)ggC>ggT	p.G75G	KCNC2_ENST00000298972.1_Silent_p.G75G|KCNC2_ENST00000341669.3_Silent_p.G75G|KCNC2_ENST00000548513.1_Silent_p.G75G|KCNC2_ENST00000540018.1_Silent_p.G75G|KCNC2_ENST00000350228.2_Silent_p.G75G|KCNC2_ENST00000550433.1_Silent_p.G75G|KCNC2_ENST00000393288.2_Silent_p.G75G	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	75	Gly/Pro-rich (insert).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGAAGCAGCCGCCTGGCCCGg	0.766													7	1					0	0	0	0	A	75601539	G	A	75601539	2	1	40	1	0	0	0	0	0	0	0	1	8068	1074	38	1		1	KCNC2	12	75601539	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	8998255	75601539	58250356	191	7703											
RNFT2	84900	broad.mit.edu	37	chr12	117217096	117217096	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttctgaagtacatcaccatCgccctcaagtgcctcatcgt	9	11	7	14	2	4	1	3	1	1	0	6	1	4	1	3	0	2	2	3	0	3	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:117217096C>T	ENST00000257575.4	+	7	1058	c.825C>T	c.(823-825)atC>atT	p.I275I	RNFT2_ENST00000392549.2_Silent_p.I275I|RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Silent_p.I275I			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	275						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		ACATCACCATCGCCCTCAAGT	0.552													60	81					0	0	0	0	T	117217096	C	T	117217096	2	4	40	1	0	0	0	0	0	0	0	1	13587	874	31	1		1	RNFT2	12	117217096	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	41615557	117217096	16634799	192	7704											
ANAPC5	51433	broad.mit.edu	37	chr12	121756175	121756175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggagcatgggcagcgCgatggtaggggaggaagatc	10	5	19	7	2	0	1	0	0	0	1	1	5	0	4	0	6	3	4	0	6	2	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:121756175C>T	ENST00000261819.3	-	15	1919	c.1798G>A	c.(1798-1800)Gcg>Acg	p.A600T	ANAPC5_ENST00000535482.1_Missense_Mutation_p.A266T|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A488T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A488T|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A587T|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	600					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|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(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATGGGCAGCGCGATGGTAGGG	0.552													33	47					0	0	0	0	T	121756175	C	T	121756175	3	4	40	1	0	0	0	0	1	0	0	0	605	768	27	1	481	1	ANAPC5	12	121756175	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	4539079	121756175	12095720	193	7705											
DDX51	317781	broad.mit.edu	37	chr12	132627321	132627321	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgcagctgcttctgcaggtCaggatggacgtcagggatgt	7	9	15	10	2	3	0	2	0	1	0	3	3	3	3	1	4	3	4	1	4	0	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:132627321C>G	ENST00000397333.3	-	3	660	c.622G>C	c.(622-624)Gac>Cac	p.D208H		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	208					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TTCTGCAGGTCAGGATGGACG	0.617													48	93					0	0	0	0	G	132627321	C	G	132627321	3	3	40	1	0	0	0	0	1	0	0	0	4401	826	29	2	1430	2	DDX51	12	132627321	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	10871146	132627321	1224574	194	7706											
GOLGA3	2802	broad.mit.edu	37	chr12	133350895	133350895	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagagctggcctcgcctttCggctcctttctctgttttta	4	16	9	12	2	1	1	0	0	1	1	5	2	2	1	3	2	1	3	3	2	2	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:133350895C>T	ENST00000204726.3	-	23	4713	c.4155G>A	c.(4153-4155)ccG>ccA	p.P1385P	GOLGA3_ENST00000450791.2_Silent_p.P1385P	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1385					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCTCGCCTTTCGGCTCCTTTC	0.617													28	49					0	0	0	0	T	133350895	C	T	133350895	2	4	40	1	0	0	0	0	0	0	0	1	6605	871	31	1		1	GOLGA3	12	133350895	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	723574	133350895	501000	195	7707											
RNF31	55072	broad.mit.edu	37	chr14	24617533	24617533	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgggttgagcttccccGaagggcaggaggagccagat	10	6	16	9	1	0	3	0	1	0	2	1	6	1	5	3	4	2	3	3	4	1	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:24617533G>T	ENST00000324103.6	+	3	726	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000559275.1_5'UTR	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	136	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GAGCTTCCCCGAAGGGCAGGA	0.567													14	38					7.93312e-07	8.17418e-07	1	0	T	24617533	G	T	24617533	4	4	40	1	0	0	0	0	0	1	0	0	13572	1059	37	3	416	3	RNF31	14	24617533	Nonsense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08		24617533	82732007	196	7708											
MDGA2	161357	broad.mit.edu	37	chr14	47426688	47426688	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgtactctgtgtattcctGagagtcaaattgacccgtcc	9	12	9	11	2	2	2	1	2	1	1	4	3	4	2	3	0	2	2	3	0	3	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:47426688G>A	ENST00000426342.1	-	9	1830	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	MDGA2_ENST00000439988.2_Nonsense_Mutation_p.Q591*|MDGA2_ENST00000399232.2_Nonsense_Mutation_p.Q660*|MDGA2_ENST00000357362.3_Nonsense_Mutation_p.Q362*	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	591	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTGTATTCCTGAGAGTCAAAT	0.448													39	67					0	0	0	0	A	47426688	G	A	47426688	4	1	40	1	0	0	0	0	0	1	0	0	9476	1299	45	2	1135	2	MDGA2	14	47426688	Nonsense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	22809155	47426688	59922852	197	7709											
SYNE2	23224	broad.mit.edu	37	chr14	64476717	64476717	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggagagttttggagctcttAaaacaatatcagaattttaa	15	13	9	4	0	2	2	1	0	1	2	2	4	2	3	0	2	2	2	0	2	6	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:64476717A>T	ENST00000358025.3	+	32	4841	c.4611A>T	c.(4609-4611)ttA>ttT	p.L1537F	SYNE2_ENST00000344113.4_Missense_Mutation_p.L1537F|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1537F	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1537					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGAGCTCTTAAAACAATATC	0.353													18	32					0	0	0	0	T	64476717	A	T	64476717	3	4	40	1	0	0	0	0	1	0	0	0	15537	359	13	5	4733	5	SYNE2	14	64476717	Missense_Mutation	SNP	A	TCGA-BB-4227-01A-01D-1870-08	17050029	64476717	42872823	198	7710											
HSPA2	3306	broad.mit.edu	37	chr14	65008483	65008483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccatcacgcgcgcccgcttcGaggagctcaatgccgacctc	7	6	10	18	6	2	0	2	0	0	0	4	3	2	1	4	1	2	2	4	1	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:65008483G>C	ENST00000247207.6	+	1	1298	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	HSPA2_ENST00000394709.1_Missense_Mutation_p.E306Q	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	306					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGCCCGCTTCGAGGAGCTCAA	0.652													10	19					0	0	0	0	C	65008483	G	C	65008483	3	2	40	1	0	0	0	0	1	0	0	0	7463	1059	37	3	918	3	HSPA2	14	65008483	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	531766	65008483	42341057	199	7711											
TSHR	7253	broad.mit.edu	37	chr14	81610641	81610641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgattgaaaactcccatCtaaccccaaagaagcaaggc	17	6	6	12	0	1	3	0	2	1	1	2	3	2	3	3	1	4	1	3	1	7	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:81610641C>T	ENST00000541158.2	+	11	2561	c.2239C>T	c.(2239-2241)Cta>Tta	p.L747L	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.L747L			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	747					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.L747I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AAACTCCCATCTAACCCCAAA	0.408			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						38	67					0	0	0	0	T	81610641	C	T	81610641	2	4	40	1	0	0	0	0	0	0	0	1	16717	912	32	2		2	TSHR	14	81610641	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	16602158	81610641	25738899	200	7712											
ZC3H14	79882	broad.mit.edu	37	chr14	89039315	89039315	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagaagaaacgtatagtccGttctttagaaacaactcgga	15	11	8	7	3	1	3	0	0	1	3	3	4	2	4	1	1	3	2	1	1	8	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:89039315G>A	ENST00000251038.5	+	6	1050	c.825G>A	c.(823-825)ccG>ccA	p.P275P	ZC3H14_ENST00000555755.1_Silent_p.P275P|ZC3H14_ENST00000556945.1_Silent_p.P275P|ZC3H14_ENST00000393514.5_Silent_p.P275P|ZC3H14_ENST00000359301.3_Silent_p.P241P|ZC3H14_ENST00000336693.4_Silent_p.P241P|ZC3H14_ENST00000302216.8_Silent_p.P275P|ZC3H14_ENST00000557607.1_Silent_p.P120P	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	275						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CGTATAGTCCGTTCTTTAGAA	0.388													4	80					0	0	0	0	A	89039315	G	A	89039315	2	1	40	1	0	0	0	0	0	0	0	1	17661	1132	40	1		1	ZC3H14	14	89039315	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	7428674	89039315	18310225	201	7713											
EML5	161436	broad.mit.edu	37	chr14	89131807	89131807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacggctaaagctttaccatCaggagaaaaacagcaacacc	17	6	7	11	1	1	1	1	0	0	1	1	2	1	1	2	2	6	3	2	2	7	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:89131807C>T	ENST00000554922.1	-	22	3399	c.3151G>A	c.(3151-3153)Gat>Aat	p.D1051N	EML5_ENST00000380664.5_Missense_Mutation_p.D1051N|EML5_ENST00000352093.5_Missense_Mutation_p.D1013N	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1051						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCTTTACCATCAGGAGAAAAA	0.413													33	57					0	0	0	0	T	89131807	C	T	89131807	3	4	40	1	0	0	0	0	1	0	0	0	5138	826	29	2	2870	2	EML5	14	89131807	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	92492	89131807	18217733	202	7714											
EML5	161436	broad.mit.edu	37	chr14	89192964	89192964	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcattgacagctgcacaacGaattggttcttccatattac	11	13	7	10	1	1	1	0	1	1	0	2	2	2	1	1	1	5	4	1	1	4	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:89192964G>C	ENST00000554922.1	-	8	1356	c.1108C>G	c.(1108-1110)Cgt>Ggt	p.R370G	EML5_ENST00000380664.5_Missense_Mutation_p.R370G|EML5_ENST00000352093.5_Missense_Mutation_p.R370G	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	370						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCTGCACAACGAATTGGTTCT	0.368													3	14					0	0	0	0	C	89192964	G	C	89192964	3	2	40	1	0	0	0	0	1	0	0	0	5138	1058	37	3	4969	3	EML5	14	89192964	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	61157	89192964	18156576	203	7715											
MOAP1	64112	broad.mit.edu	37	chr14	93650551	93650551	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccgagggttcatgtccaTccccctgcaccagtcttcta	6	13	7	15	1	3	0	1	0	2	0	6	1	6	0	5	1	1	2	5	1	1	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:93650551T>C	ENST00000556883.1	-	2	521	c.37A>G	c.(37-39)Atg>Gtg	p.M13V	MOAP1_ENST00000298894.4_Missense_Mutation_p.M13V			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	13					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ttcatgtccatccccctgcac	0.507													5	169					0	0	0	0	C	93650551	T	C	93650551	3	2	40	1	0	0	0	0	1	0	0	0	9750	1435	50	5	1022	5	MOAP1	14	93650551	Missense_Mutation	SNP	T	TCGA-BB-4227-01A-01D-1870-08	4457587	93650551	13698989	204	7716											
JAG2	3714	broad.mit.edu	37	chr14	105609974	105609974	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtccctggcagggctgaagGactgcggcaaagaacggcat	10	5	16	10	2	0	2	0	1	0	1	1	3	1	3	1	6	2	4	1	6	3	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:105609974G>C	ENST00000331782.3	-	25	3489	c.3084_splice	c.e25-1	p.S1029_splice	JAG2_ENST00000347004.2_Splice_Site_p.S991_splice	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1029					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGGGCTGAAGGACTGCGGCAA	0.682													5	60					0	0	0	0	C	105609974	G	C	105609974	5	2	40	1	0	0	0	0	0	0	1	0	7988	1188	41	2	638	2	JAG2	14	105609974	Splice_Site	SNP	G	TCGA-BB-4227-01A-01D-1870-08	11959423	105609974	1739566	205	7717											
CYFIP1	23191	broad.mit.edu	37	chr15	22997806	22997806	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgctctagtctttagaaGaagtgtgtgacctgctgcac	8	13	10	10	0	3	3	0	1	3	2	3	3	3	3	1	0	3	3	1	0	4	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:22997806G>C	ENST00000313077.7	+	27	3177	c.3052G>C	c.(3052-3054)Gaa>Caa	p.E1018Q	CYFIP1_ENST00000560848.1_Missense_Mutation_p.E1018Q|CYFIP1_ENST00000435939.2_Missense_Mutation_p.E587Q	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1018					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GTCTTTAGAAGAAGTGTGTGA	0.527													98	170					0	0	0	0	C	22997806	G	C	22997806	3	2	40	1	0	0	0	0	1	0	0	0	4169	943	33	2	3535	2	CYFIP1	15	22997806	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08		22997806	79533586	206	7718											
OCA2	4948	broad.mit.edu	37	chr15	28211914	28211914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcggaaagcagaccaggaGaacaaggcaaatcccaatga	18	2	12	9	1	0	3	0	1	0	2	1	6	1	4	2	3	3	2	2	3	5	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:28211914G>A	ENST00000354638.3	-	15	1713	c.1558C>T	c.(1558-1560)Ctc>Ttc	p.L520F	OCA2_ENST00000382996.2_Missense_Mutation_p.L520F|OCA2_ENST00000353809.5_Missense_Mutation_p.L496F	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	520					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAGACCAGGAGAACAAGGCAA	0.483									Oculocutaneous Albinism				13	23					0	0	0	0	A	28211914	G	A	28211914	3	1	40	1	0	0	0	0	1	0	0	0	10886	942	33	2	998	2	OCA2	15	28211914	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	5214108	28211914	74319478	207	7719											
EIF2AK4	440275	broad.mit.edu	37	chr15	40268942	40268942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagtggagcacttcgggcGagcgctcggccagtgcccgt	5	7	17	12	5	0	0	0	0	0	0	2	3	0	2	2	4	3	2	2	4	0	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:40268942G>A	ENST00000263791.5	+	12	2189	c.2146G>A	c.(2146-2148)Gag>Aag	p.E716K	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E716K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	716	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CACTTCGGGCGAGCGCTCGGC	0.716													36	62					0	0	0	0	A	40268942	G	A	40268942	3	1	40	1	0	0	0	0	1	0	0	0	5035	1059	37	1	2192	1	EIF2AK4	15	40268942	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	12057028	40268942	62262450	208	7720											
SPG11	80208	broad.mit.edu	37	chr15	44856881	44856881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaacaaaatcgtaggcctCagccacaatagaagccttaa	16	7	8	10	1	1	1	1	0	0	1	2	2	1	2	3	2	3	1	3	2	8	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:44856881C>T	ENST00000261866.7	-	39	7031	c.7015G>A	c.(7015-7017)Gag>Aag	p.E2339K	SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Missense_Mutation_p.E2226K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2339					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCGTAGGCCTCAGCCACAATA	0.373													27	38					0	0	0	0	T	44856881	C	T	44856881	3	4	40	1	0	0	0	0	1	0	0	0	15131	835	29	2	324	2	SPG11	15	44856881	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	4587939	44856881	57674511	209	7721											
AP4E1	23431	broad.mit.edu	37	chr15	51233943	51233943	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacaataattgaatgtttaGatcatcctgatcccattatt	13	16	5	7	0	1	4	1	3	0	1	3	4	3	4	2	0	0	1	2	0	5	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:51233943G>C	ENST00000261842.5	+	10	1253	c.1147G>C	c.(1147-1149)Gat>Cat	p.D383H	AP4E1_ENST00000560508.1_Missense_Mutation_p.D308H	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	383					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TGAATGTTTAGATCATCCTGA	0.333													14	38					0	0	0	0	C	51233943	G	C	51233943	3	2	40	1	0	0	0	0	1	0	0	0	753	942	33	2	1185	2	AP4E1	15	51233943	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	6377062	51233943	51297449	210	7722											
VPS13C	54832	broad.mit.edu	37	chr15	62161820	62161820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctccttcctttttggCaccttcagaaaaccaatgac	11	11	6	13	0	1	2	1	1	0	1	3	2	3	2	4	1	3	3	4	1	3	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:62161820C>T	ENST00000261517.5	-	80	10700	c.10627G>A	c.(10627-10629)Gcc>Acc	p.A3543T	VPS13C_ENST00000395898.3_Missense_Mutation_p.A3500T|VPS13C_ENST00000395896.4_Missense_Mutation_p.A3543T|VPS13C_ENST00000249837.3_Missense_Mutation_p.A3500T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3543					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTTTTTGGCACCTTCAGAA	0.443													4	132					0	0	0	0	T	62161820	C	T	62161820	3	4	40	1	0	0	0	0	1	0	0	0	17287	710	25	4	686	4	VPS13C	15	62161820	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	10927877	62161820	40369572	211	7723											
HBZ	3050	broad.mit.edu	37	chr16	202962	202962	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtccatgtgggccaagatCtccacgcaggccgacaccat	9	7	11	14	2	1	1	0	0	1	1	3	2	2	1	5	2	0	1	5	2	1	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:202962C>T	ENST00000252951.2	+	1	277	c.54C>T	c.(52-54)atC>atT	p.I18I		NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN	hemoglobin, zeta	18						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GGGCCAAGATCTCCACGCAGG	0.622													17	36					0	0	0	0	T	202962	C	T	202962	2	4	40	1	0	0	0	0	0	0	0	1	7039	903	32	2		2	HBZ	16	202962	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08		202962	90151791	212	7724											
ITFG3	83986	broad.mit.edu	37	chr16	312520	312520	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgcactgggagagcatgctCaatgccaccacccgcaggat	10	5	11	15	2	1	1	1	0	0	1	1	3	1	2	4	2	3	4	4	2	1	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:312520C>G	ENST00000399932.3	+	8	1390	c.939C>G	c.(937-939)ctC>ctG	p.L313L	ITFG3_ENST00000450082.2_Silent_p.L313L|ITFG3_ENST00000301679.2_Silent_p.L313L|ITFG3_ENST00000600536.1_Silent_p.L313L|ITFG3_ENST00000301678.3_Silent_p.L313L|ITFG3_ENST00000442458.2_Silent_p.L313L			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	313						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AGAGCATGCTCAATGCCACCA	0.652													25	38					0	0	0	0	G	312520	C	G	312520	2	3	40	1	0	0	0	0	0	0	0	1	7924	813	29	2		2	ITFG3	16	312520	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	109558	312520	90042233	213	7725											
BAIAP3	8938	broad.mit.edu	37	chr16	1388988	1388988	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gacagggcttgccgtgcctcGaggtaagggtgccaccccca	7	6	14	14	2	0	0	0	0	0	0	1	2	0	0	5	3	3	2	5	3	1	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:1388988G>C	ENST00000324385.5	+	3	480	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	BAIAP3_ENST00000568887.1_Missense_Mutation_p.E73Q|BAIAP3_ENST00000397488.2_Missense_Mutation_p.E73Q|BAIAP3_ENST00000421665.2_Missense_Mutation_p.E73Q|BAIAP3_ENST00000397489.1_Missense_Mutation_p.E73Q|BAIAP3_ENST00000562208.1_Missense_Mutation_p.E73Q|BAIAP3_ENST00000426824.3_Missense_Mutation_p.E73Q	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	108					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCCGTGCCTCGAGGTAAGGGT	0.667													40	66					0	0	0	0	C	1388988	G	C	1388988	3	2	40	1	0	0	0	0	1	0	0	0	1308	1059	37	3	332	3	BAIAP3	16	1388988	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	1076468	1388988	88965765	214	7726											
HS3ST6	64711	broad.mit.edu	37	chr16	1961639	1961639	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctggtagaacctgcggttGaagggccggtagaactcctg	9	9	14	9	2	1	3	0	1	1	2	2	3	2	3	3	4	3	3	3	4	5	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:1961639G>A	ENST00000454677.2	-	2	1097	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	HS3ST6_ENST00000293937.3_Silent_p.F327F|HS3ST6_ENST00000443547.1_Silent_p.F296F			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	296										endometrium(2)|lung(2)	4						ACCTGCGGTTGAAGGGCCGGT	0.701													9	5					0	0	0	0	A	1961639	G	A	1961639	2	1	40	1	0	0	0	0	0	0	0	1	7419	1281	45	2		2	HS3ST6	16	1961639	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	572651	1961639	88393114	215	7727											
TNFRSF12A	51330	broad.mit.edu	37	chr16	3071626	3071626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgctctgagcctgaccttCgtgctggggctgctttctgg	2	12	15	12	2	2	2	0	2	2	0	3	2	2	2	2	4	3	4	2	4	0	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:3071626C>T	ENST00000575124.1	+	2	456	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C	TNFRSF12A_ENST00000326577.4_Silent_p.F90F|TNFRSF12A_ENST00000573001.1_Silent_p.F41F|TNFRSF12A_ENST00000341627.5_Silent_p.F55F			Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	0					angiogenesis|apoptosis	integral to membrane	receptor activity			lung(1)|skin(1)	2						GCCTGACCTTCGTGCTGGGGC	0.652											OREG0023566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	41					0	0	0	0	T	3071626	C	T	3071626	3	4	40	1	0	0	0	0	1	0	0	0	16380	883	31	1	280	1	TNFRSF12A	16	3071626	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	1109987	3071626	87283127	216	7728											
GRIN2A	2903	broad.mit.edu	37	chr16	9857426	9857426	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggacactaaacaggctgccGtaaaaatttccctccagaag	14	7	9	11	1	0	1	0	0	0	1	2	2	2	2	3	2	2	2	3	2	6	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:9857426G>A	ENST00000396573.2	-	14	4284	c.3975C>T	c.(3973-3975)taC>taT	p.Y1325Y	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Silent_p.Y1325Y|GRIN2A_ENST00000330684.3_Silent_p.Y1325Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1325					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.Y1325Y(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACAGGCTGCCGTAAAAATTTC	0.527													56	86					0	0	0	0	A	9857426	G	A	9857426	2	1	40	1	0	0	0	0	0	0	0	1	6829	1140	40	1		1	GRIN2A	16	9857426	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	6785800	9857426	80497327	217	7729											
ACSM1	116285	broad.mit.edu	37	chr16	20696551	20696551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagccaccagccaccactCaggaactcgaggcagcatca	13	3	8	17	1	2	0	2	0	0	0	3	2	2	1	4	2	4	2	4	2	1	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:20696551C>G	ENST00000307493.4	-	2	434	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	ACSM1_ENST00000520010.1_Missense_Mutation_p.E123Q|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	123					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGCCACCACTCAGGAACTCGA	0.582													22	74					0	0	0	0	G	20696551	C	G	20696551	3	3	40	1	0	0	0	0	1	0	0	0	182	835	29	2	1414	2	ACSM1	16	20696551	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	10839125	20696551	69658202	218	7730											
HIRIP3	8479	broad.mit.edu	37	chr16	30005773	30005773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctctttcttctgggctagGatctcctcttcactctcctg	3	17	7	14	0	7	0	1	0	6	0	9	1	7	1	2	2	1	2	2	2	1	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:30005773G>A	ENST00000279392.3	-	4	1523	c.693C>T	c.(691-693)atC>atT	p.I231I	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	231	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCTGGGCTAGGATCTCCTCTT	0.498													6	230					0	0	0	0	A	30005773	G	A	30005773	2	1	40	1	0	0	0	0	0	0	0	1	7171	1164	41	2		2	HIRIP3	16	30005773	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	9309222	30005773	60348980	219	7731											
PRSS36	146547	broad.mit.edu	37	chr16	31153248	31153248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agccagaaaccaggtcccctCctcctggcacaaaaggctcc	11	5	8	17	0	0	1	0	0	0	1	4	1	4	1	7	3	2	2	7	3	3	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:31153248C>G	ENST00000268281.4	-	11	1613	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	PRSS36_ENST00000569305.1_Missense_Mutation_p.E514Q|PRSS36_ENST00000418068.2_Missense_Mutation_p.E519Q	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	519	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CAGGTCCCCTCCTCCTGGCAC	0.557													46	89					0	0	0	0	G	31153248	C	G	31153248	3	3	40	1	0	0	0	0	1	0	0	0	12704	864	30	2	1032	2	PRSS36	16	31153248	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	1147475	31153248	59201505	220	7732											
CHD9	80205	broad.mit.edu	37	chr16	53260306	53260306	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaaatcgacaaattaaaaGaaaaaaatacgcagaagata	25	6	5	5	2	1	3	1	0	0	3	2	4	1	3	0	0	1	1	0	0	10	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:53260306G>C	ENST00000566029.1	+	5	2134	c.1925G>C	c.(1924-1926)aGa>aCa	p.R642T	CHD9_ENST00000564845.1_Missense_Mutation_p.R642T|CHD9_ENST00000447540.1_Missense_Mutation_p.R642T|CHD9_ENST00000398510.3_Missense_Mutation_p.R642T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	642	Lys-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAAATTAAAAGAAAAAAATAC	0.289													16	24					0	0	0	0	C	53260306	G	C	53260306	3	2	40	1	0	0	0	0	1	0	0	0	3361	942	33	2	1939	2	CHD9	16	53260306	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	22107058	53260306	37094447	221	7733											
FTO	79068	broad.mit.edu	37	chr16	53844097	53844097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagacacttggctcccttatCtgacccccaaagatgatgaa	13	9	7	12	0	1	5	0	3	1	2	2	5	2	5	3	1	0	1	3	1	4	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:53844097C>G	ENST00000471389.1	+	2	313	c.91C>G	c.(91-93)Ctg>Gtg	p.L31V	FTO_ENST00000394647.3_5'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	31					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCTCCCTTATCTGACCCCCAA	0.343													21	43					0	0	0	0	G	53844097	C	G	53844097	3	3	40	1	0	0	0	0	1	0	0	0	6134	912	32	2	97	2	FTO	16	53844097	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	583791	53844097	36510656	222	7734											
LRRC36	55282	broad.mit.edu	37	chr16	67405001	67405001	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaactcctctgcggacactGctgttgtctcctgggacttc	6	12	9	14	1	2	0	0	0	2	0	5	2	3	2	2	2	3	2	2	2	1	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:67405001G>A	ENST00000541146.1	+	0	593				LRRC36_ENST00000563189.1_Silent_p.L329L|LRRC36_ENST00000329956.6_Silent_p.L450L|LRRC36_ENST00000435835.3_Silent_p.L329L|LRRC36_ENST00000290940.7_Silent_p.L182L			Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36											endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TGCGGACACTGCTGTTGTCTC	0.468													44	70					0	0	0	0	A	67405001	G	A	67405001	1	1	40	1	0	0	0	0	0	0	0	0	9054	1306	46	4		4	LRRC36	16	67405001	Translation_Start_Site	SNP	G	TCGA-BB-4227-01A-01D-1870-08	13560904	67405001	22949752	223	7735											
GFOD2	81577	broad.mit.edu	37	chr16	67709325	67709325	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtacagcagcgggacatcCtggggcccctgctcaggcag	8	5	15	13	1	1	0	1	0	0	0	2	1	2	1	3	5	4	4	3	5	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:67709325C>G	ENST00000268797.7	-	3	1236	c.891G>C	c.(889-891)caG>caC	p.Q297H	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	297						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GCGGGACATCCTGGGGCCCCT	0.667													5	74					0	0	0	0	G	67709325	C	G	67709325	3	3	40	1	0	0	0	0	1	0	0	0	6395	680	24	4	270	4	GFOD2	16	67709325	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	304324	67709325	22645428	224	7736											
NRN1L	123904	broad.mit.edu	37	chr16	67920047	67920047	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcgggagcgcggcacaggctCcgaaaccaaccaggagacgc	11	2	14	14	5	0	1	0	0	0	1	2	4	1	2	3	4	3	2	3	4	2	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:67920047C>G	ENST00000339176.3	+	3	482	c.383C>G	c.(382-384)tCc>tGc	p.S128C	CTC-479C5.10_ENST00000572067.1_RNA|NRN1L_ENST00000576147.1_Missense_Mutation_p.P55A	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	128						anchored to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GGCACAGGCTCCGAAACCAAC	0.667													4	17					0	0	0	0	G	67920047	C	G	67920047	3	3	40	1	0	0	0	0	1	0	0	0	10730	855	30	2	393	2	NRN1L	16	67920047	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	210722	67920047	22434706	225	7737											
DPEP2	64174	broad.mit.edu	37	chr16	68025794	68025794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcgcactcccagcatgtaGaaggtaggtaagatggagag	13	7	14	7	1	0	3	0	0	0	3	1	4	1	3	1	3	2	5	1	3	5	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:68025794G>C	ENST00000412757.2	-	6	1274	c.609C>G	c.(607-609)ttC>ttG	p.F203L	DPEP2_ENST00000393847.1_Missense_Mutation_p.F203L|DPEP2_ENST00000572888.1_Missense_Mutation_p.F203L			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	203					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CCAGCATGTAGAAGGTAGGTA	0.592													28	58					0	0	0	0	C	68025794	G	C	68025794	3	2	40	1	0	0	0	0	1	0	0	0	4750	933	33	2	879	2	DPEP2	16	68025794	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	105747	68025794	22328959	226	7738											
PLA2G15	23659	broad.mit.edu	37	chr16	68293433	68293433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagagtgccctgcagtGccaggcctggcagagccgcc	7	6	14	14	1	0	3	0	1	0	2	0	3	0	3	5	2	4	2	5	2	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:68293433G>T	ENST00000219345.5	+	6	1195	c.1112G>T	c.(1111-1113)tGc>tTc	p.C371F	PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000444212.2_Missense_Mutation_p.C171F|PLA2G15_ENST00000413021.2_Missense_Mutation_p.C277F|RP11-96D1.7_ENST00000563175.1_RNA	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	371					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GCCCTGCAGTGCCAGGCCTGG	0.587													21	40					2.89027e-11	3.0627e-11	1	0	T	68293433	G	T	68293433	3	4	40	1	0	0	0	0	1	0	0	0	12064	1319	46	4	1134	4	PLA2G15	16	68293433	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	267639	68293433	22061320	227	7739											
ZFHX3	463	broad.mit.edu	37	chr16	72993190	72993190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaaggagagtttgcacaaGaaacacatcaggatgggctt	15	7	11	8	0	1	2	1	0	0	2	1	4	1	3	1	3	2	3	1	3	3	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:72993190G>C	ENST00000268489.5	-	2	1527	c.855C>G	c.(853-855)ttC>ttG	p.F285L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	285					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTTTGCACAAGAAACACATCA	0.498													36	80					0	0	0	0	C	72993190	G	C	72993190	3	2	40	1	0	0	0	0	1	0	0	0	17729	933	33	2	10292	2	ZFHX3	16	72993190	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	4699757	72993190	17361563	228	7740											
ANKRD11	29123	broad.mit.edu	37	chr16	89349254	89349254	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagcttctgtttatttttCttatcttgcgtggagtccac	5	18	10	8	1	3	0	0	0	3	0	4	2	4	2	1	2	2	2	1	2	2	7			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:89349254C>G	ENST00000301030.4	-	9	4156	c.3696G>C	c.(3694-3696)aaG>aaC	p.K1232N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K1232N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1232	Lys-rich.					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)		GTTTATTTTTCTTATCTTGCG	0.443													58	57					0	0	0	0	G	89349254	C	G	89349254	3	3	40	1	0	0	0	0	1	0	0	0	639	912	32	2	4315	2	ANKRD11	16	89349254	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	16356064	89349254	1005499	229	7741											
ANKRD11	29123	broad.mit.edu	37	chr16	89349405	89349405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcggtcctttctcctgtctCtgggctccttgtccttctgc	0	17	8	16	1	3	0	0	0	3	0	9	0	6	0	4	2	1	1	4	2	0	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:89349405C>T	ENST00000301030.4	-	9	4005	c.3545G>A	c.(3544-3546)aGa>aAa	p.R1182K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1182K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1182	Lys-rich.					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)		TCTCCTGTCTCTGGGCTCCTT	0.542													58	79					0	0	0	0	T	89349405	C	T	89349405	3	4	40	1	0	0	0	0	1	0	0	0	639	913	32	2	4466	2	ANKRD11	16	89349405	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	151	89349405	1005348	230	7742											
WDR81	124997	broad.mit.edu	37	chr17	1636020	1636020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccacaggtggtcttctctGatgggcagcagcggcccgtg	5	9	15	12	2	2	1	0	1	2	0	3	1	2	1	2	4	3	2	2	4	0	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:1636020G>A	ENST00000409644.1	+	6	4384	c.4384G>A	c.(4384-4386)Gat>Aat	p.D1462N	WDR81_ENST00000446363.1_Missense_Mutation_p.D101N|WDR81_ENST00000437219.2_Missense_Mutation_p.D259N|WDR81_ENST00000419248.1_Missense_Mutation_p.D235N|WDR81_ENST00000309182.5_Missense_Mutation_p.D411N|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.D93N	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	235										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTCTTCTCTGATGGGCAGCA	0.642													14	26					0	0	0	0	A	1636020	G	A	1636020	3	1	40	1	0	0	0	0	1	0	0	0	17426	1290	45	2	4468	2	WDR81	17	1636020	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08		1636020	79559190	231	7743											
WDR81	124997	broad.mit.edu	37	chr17	1636853	1636853	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggaaaatcatccccaaccacGagctggttggggagctggcg	10	6	14	11	2	1	0	1	0	0	0	2	3	2	2	3	5	3	3	3	5	3	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:1636853G>C	ENST00000409644.1	+	7	4522	c.4522G>C	c.(4522-4524)Gag>Cag	p.E1508Q	WDR81_ENST00000446363.1_Missense_Mutation_p.E147Q|WDR81_ENST00000437219.2_Missense_Mutation_p.E305Q|WDR81_ENST00000419248.1_Missense_Mutation_p.E281Q|WDR81_ENST00000309182.5_Missense_Mutation_p.E457Q|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.E139Q	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	281										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCCAACCACGAGCTGGTTGG	0.632													75	122					0	0	0	0	C	1636853	G	C	1636853	3	2	40	1	0	0	0	0	1	0	0	0	17426	1059	37	3	4610	3	WDR81	17	1636853	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	833	1636853	79558357	232	7744											
OR1G1	8390	broad.mit.edu	37	chr17	3030534	3030534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcatcacaaataacatGaaaaaatacaactgtagtag	20	8	5	8	0	1	1	1	1	0	0	2	1	2	1	1	0	4	3	1	0	9	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:3030534G>T	ENST00000328890.2	-	1	341	c.312C>A	c.(310-312)ttC>ttA	p.F104L		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CAAATAACATGAAAAAATACA	0.483													10	82					0.000442599	0.0004523	1	0	T	3030534	G	T	3030534	3	4	40	1	0	0	0	0	1	0	0	0	11028	1281	45	2	633	2	OR1G1	17	3030534	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	1393681	3030534	78164676	233	7745											
OR1A2	26189	broad.mit.edu	37	chr17	3101343	3101343	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccaggaagtagccaatttCtactgtgacattatgccttt	12	13	7	9	0	1	1	0	1	1	0	1	2	1	2	3	1	4	1	3	1	6	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:3101343C>T	ENST00000381951.1	+	1	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TAGCCAATTTCTACTGTGACA	0.473													57	93					0	0	0	0	T	3101343	C	T	3101343	2	4	40	1	0	0	0	0	0	0	0	1	11021	912	32	2		2	OR1A2	17	3101343	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	70809	3101343	78093867	234	7746											
TRPV1	7442	broad.mit.edu	37	chr17	3495380	3495380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggcaccggtggggccgtCtcctggcctctggatggtga	3	9	16	13	2	2	1	0	1	2	0	3	2	2	2	5	7	0	1	5	7	0	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:3495380C>G	ENST00000174621.6	-	2	478	c.189G>C	c.(187-189)gaG>gaC	p.E63D	TRPV1_ENST00000571088.1_Missense_Mutation_p.D89H|TRPV1_ENST00000425167.2_Missense_Mutation_p.D89H|TRPV1_ENST00000399756.4_Missense_Mutation_p.D89H|TRPV1_ENST00000576351.1_Missense_Mutation_p.D89H|TRPV1_ENST00000399759.3_Missense_Mutation_p.D89H|TRPV1_ENST00000310522.5_Missense_Mutation_p.D89H|SHPK_ENST00000572705.1_Missense_Mutation_p.D89H			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	763					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GTGGGGCCGTCTCCTGGCCTC	0.657													12	43					0	0	0	0	G	3495380	C	G	3495380	3	3	40	1	0	0	0	0	1	0	0	0	16690	913	32	2	1987	2	TRPV1	17	3495380	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	394037	3495380	77699830	235	7747											
SHPK	23729	broad.mit.edu	37	chr17	3495440	3495440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcgggcaggagtccagctCaccttcctcgtgagggcaat	7	8	14	12	2	1	1	1	1	0	0	5	2	3	2	3	4	1	3	3	4	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:3495440C>G	ENST00000572705.1	-	3	479	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	TRPV1_ENST00000571088.1_Missense_Mutation_p.E69Q|TRPV1_ENST00000425167.2_Missense_Mutation_p.E69Q|TRPV1_ENST00000399756.4_Missense_Mutation_p.E69Q|TRPV1_ENST00000576351.1_Missense_Mutation_p.E69Q|TRPV1_ENST00000399759.3_Missense_Mutation_p.E69Q|TRPV1_ENST00000174621.6_Silent_p.V43V|TRPV1_ENST00000310522.5_Missense_Mutation_p.E69Q	NM_080704.3	NP_542435.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	0					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GAGTCCAGCTCACCTTCCTCG	0.652													13	25					0	0	0	0	G	3495440	C	G	3495440	3	3	40	1	0	0	0	0	1	0	0	0	14378	835	29	2		2	SHPK	17	3495440	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	60	3495440	77699770	236	7748											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			36	8					0	0	0	0	A	7578212	G	A	7578212	4	1	40	1	0	0	0	0	0	1	0	0	16476	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	4082772	7578212	73616998	237	7749											
DNAH2	146754	broad.mit.edu	37	chr17	7623114	7623114	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaagctcccaggcaagctGgtcagggcgggccactcggg	8	4	17	12	2	1	0	1	0	0	0	3	1	2	1	2	6	2	3	2	6	2	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:7623114G>A	ENST00000572933.1	+	2	1522	c.62G>A	c.(61-63)tGg>tAg	p.W21*	DNAH2_ENST00000082259.3_Nonsense_Mutation_p.W21*|DNAH2_ENST00000570791.1_Nonsense_Mutation_p.W21*|DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W21*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	21	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGGCAAGCTGGTCAGGGCGG	0.617													18	24					0	0	0	0	A	7623114	G	A	7623114	4	1	40	1	0	0	0	0	0	1	0	0	4639	1357	47	4	64	4	DNAH2	17	7623114	Nonsense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	44902	7623114	73572096	238	7750											
MYH10	4628	broad.mit.edu	37	chr17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-																															ttttggaggatttggtttctTtcttcttcttcttcaaccct																										TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:8415820_8415822delTTC	ENST00000360416.3	-	24	3037_3039	c.2899_2901delGAA	c.(2899-2901)del	p.E967del	MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.35													7	100	---	---	---	---					-	8415822	TTC	-	8415820	7	5	40	1	0	1	0	1	0	0	0	0	10100	1838	64	0	3202	0	MYH10	17	8415820	In_Frame_Del	DEL	TTC	TCGA-BB-4227-01A-01D-1870-08	792706	8415820	72779390	239	7751											
TNFAIP1	7126	broad.mit.edu	37	chr17	26666552	26666552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacctgcagcgggagatgtCgggggacacctgcctgtgcc	6	7	15	13	2	0	1	0	0	0	1	1	3	0	2	4	3	5	1	4	3	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:26666552C>T	ENST00000226225.2	+	2	272	c.5C>T	c.(4-6)tCg>tTg	p.S2L	TNFAIP1_ENST00000583213.1_Intron|TNFAIP1_ENST00000544907.2_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	2					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CGGGAGATGTCGGGGGACACC	0.637													17	31					0	0	0	0	T	26666552	C	T	26666552	3	4	40	1	0	0	0	0	1	0	0	0	16366	893	31	1	7	1	TNFAIP1	17	26666552	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	18250732	26666552	54528658	240	7752											
PIGS	94005	broad.mit.edu	37	chr17	26897883	26897883	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactcacatttcagaggaatCtctctttcatgcacaacggt	12	12	6	11	1	5	1	3	0	2	1	6	2	5	2	0	2	3	1	0	2	3	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:26897883C>T	ENST00000308360.7	-	3	648	c.273G>A	c.(271-273)gaG>gaA	p.E91E	PIGS_ENST00000543734.1_Silent_p.E30E|PIGS_ENST00000395346.2_Silent_p.E83E	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	91					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCAGAGGAATCTCTCTTTCAT	0.562													5	134					0	0	0	0	T	26897883	C	T	26897883	2	4	40	1	0	0	0	0	0	0	0	1	11970	912	32	2		2	PIGS	17	26897883	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	231331	26897883	54297327	241	7753											
KIAA0100	9703	broad.mit.edu	37	chr17	26965349	26965349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggcgcccgctgaatgtggGagtcactgcccacacgccag	7	6	14	14	3	1	1	1	1	0	0	1	2	1	2	3	2	1	1	3	2	1	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:26965349G>A	ENST00000528896.2	-	13	1507	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	KIAA0100_ENST00000389003.3_Missense_Mutation_p.S335F|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S335F	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	478						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTGAATGTGGGAGTCACTGCC	0.562													28	42					0	0	0	0	A	26965349	G	A	26965349	3	1	40	1	0	0	0	0	1	0	0	0	8205	1174	41	2	5382	2	KIAA0100	17	26965349	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	67466	26965349	54229861	242	7754											
NUFIP2	57532	broad.mit.edu	37	chr17	27613310	27613310	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgaggactagtccgtttctCcagctcgtaagccttgggaa	8	12	11	10	2	1	1	0	1	1	0	4	3	2	3	3	2	2	3	3	2	3	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:27613310C>G	ENST00000225388.4	-	2	1760	c.1702G>C	c.(1702-1704)Gag>Cag	p.E568Q	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	568						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GTCCGTTTCTCCAGCTCGTAA	0.463													12	84					0	0	0	0	G	27613310	C	G	27613310	3	3	40	1	0	0	0	0	1	0	0	0	10820	864	30	2	397	2	NUFIP2	17	27613310	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	647961	27613310	53581900	243	7755											
EVI2B	2124	broad.mit.edu	37	chr17	29632227	29632227	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttggtggttgtgtggtaGaagtacgggcagatggtagt	8	13	17	3	1	0	2	0	0	0	2	0	2	0	2	0	5	1	5	0	5	4	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:29632227G>C	ENST00000330927.4	-	2	555	c.401C>G	c.(400-402)tCt>tGt	p.S134C	EVI2B_ENST00000577894.1_Missense_Mutation_p.S134C|EVI2B_ENST00000544462.1_Missense_Mutation_p.S149C|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	134						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTGTGTGGTAGAAGTACGGGC	0.448													127	216					0	0	0	0	C	29632227	G	C	29632227	3	2	40	1	0	0	0	0	1	0	0	0	5326	942	33	2	949	2	EVI2B	17	29632227	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	2018917	29632227	51562983	244	7756											
MED1	5469	broad.mit.edu	37	chr17	37564043	37564043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtctgagctgggactattCtgataagatttctctgctat	8	16	9	8	1	3	3	0	2	3	1	5	4	3	4	0	1	2	2	0	1	3	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:37564043C>T	ENST00000300651.6	-	17	4654	c.4431G>A	c.(4429-4431)caG>caA	p.Q1477Q	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1477	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGGGACTATTCTGATAAGATT	0.453										HNSCC(31;0.082)			27	95					0	0	0	0	T	37564043	C	T	37564043	2	4	40	1	0	0	0	0	0	0	0	1	9494	912	32	2		2	MED1	17	37564043	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	7931816	37564043	43631167	245	7757											
KRT27	342574	broad.mit.edu	37	chr17	38935781	38935781	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagggactgaagttcaatCtcaagggtttgaagagtgcg	13	9	14	5	1	2	4	2	2	1	2	3	5	2	5	0	2	1	2	0	2	5	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:38935781C>T	ENST00000301656.3	-	5	985	c.945G>A	c.(943-945)gaG>gaA	p.E315E		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	315	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				GAAGTTCAATCTCAAGGGTTT	0.453													25	255					0	0	0	0	T	38935781	C	T	38935781	2	4	40	1	0	0	0	0	0	0	0	1	8516	912	32	2		2	KRT27	17	38935781	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	1371738	38935781	42259429	246	7758											
KRT39	390792	broad.mit.edu	37	chr17	39118663	39118663	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatcccccacctgcgtgttGaaccactgttccacatcttt	8	13	5	15	1	1	1	0	1	1	0	3	1	3	1	5	0	2	2	5	0	2	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:39118663G>C	ENST00000355612.2	-	4	896	c.861C>G	c.(859-861)ttC>ttG	p.F287L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	287	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CCTGCGTGTTGAACCACTGTT	0.433													243	2862					0	0	0	0	C	39118663	G	C	39118663	3	2	40	1	0	0	0	0	1	0	0	0	8528	1281	45	2	630	2	KRT39	17	39118663	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	182882	39118663	42076547	247	7759											
AKAP1	8165	broad.mit.edu	37	chr17	55183460	55183460	+	Frame_Shift_Del	DEL	A	A	-																															tggtgatgccgtgttgggggAaaaggtgcttgaagaagctc																										TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:55183460delA	ENST00000337714.3	+	2	868	c.635delA	c.(634-636)gafs	p.E212fs	AKAP1_ENST00000539273.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000572557.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000571629.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000314126.3_Frame_Shift_Del_p.E212fs	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	212					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GTGTTGGGGGAAAAGGTGCTT	0.587													7	432	---	---	---	---					-	55183460	A	-	55183460	7	5	40	1	0	1	0	1	0	0	0	0	445	246	9	0	637	0	AKAP1	17	55183460	Frame_Shift_Del	DEL	A	TCGA-BB-4227-01A-01D-1870-08	16064797	55183460	26011750	248	7760											
DHX40	79665	broad.mit.edu	37	chr17	57679960	57679960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctttgtgcgggctatttCaaaaatgtagctcgaaggta	10	14	11	6	2	2	0	1	0	1	0	3	1	2	0	0	2	2	4	0	2	6	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:57679960C>T	ENST00000451169.2	+	18	2099	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	DHX40_ENST00000251241.4_Silent_p.F628F|DHX40_ENST00000425628.3_Silent_p.F551F			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	628							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CGGGCTATTTCAAAAATGTAG	0.328													5	73					0	0	0	0	T	57679960	C	T	57679960	2	4	40	1	0	0	0	0	0	0	0	1	4549	825	29	2		2	DHX40	17	57679960	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	2496500	57679960	23515250	249	7761											
NUP85	79902	broad.mit.edu	37	chr17	73227442	73227442	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatctgcagcatcgccCtgagcaactggtggtttgtg	7	12	12	10	1	2	2	0	2	2	0	3	2	2	2	1	2	4	4	1	2	2	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:73227442C>T	ENST00000447371.2	+	11	1022	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	NUP85_ENST00000579298.1_Silent_p.L323L|NUP85_ENST00000245544.4_Silent_p.L368L|NUP85_ENST00000541827.1_Silent_p.L322L|NUP85_ENST00000540768.1_5'UTR|NUP85_ENST00000579324.1_Silent_p.L256L			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	368					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CAGCATCGCCCTGAGCAACTG	0.582													5	191					0	0	0	0	T	73227442	C	T	73227442	2	4	40	1	0	0	0	0	0	0	0	1	10841	680	24	4		4	NUP85	17	73227442	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	15547482	73227442	7967768	250	7762											
LRRC30	339291	broad.mit.edu	37	chr18	7231387	7231387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctcacaaccagctccGggttctccctcccgaggtgg	5	10	10	16	2	3	0	1	0	3	0	7	1	5	0	4	3	2	2	4	3	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr18:7231387G>A	ENST00000383467.2	+	1	265	c.251G>A	c.(250-252)cGg>cAg	p.R84Q		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	84										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AACCAGCTCCGGGTTCTCCCT	0.587													23	45					0	0	0	0	A	7231387	G	A	7231387	3	1	40	1	0	0	0	0	1	0	0	0	9049	1116	39	1	253	1	LRRC30	18	7231387	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08		7231387	70845861	251	7763											
RBBP8	5932	broad.mit.edu	37	chr18	20562197	20562197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaggaatgatcaacagcatCaagcagctgagcttgaatgt	14	9	10	8	0	2	3	2	3	0	0	2	4	2	4	0	1	5	4	0	1	5	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr18:20562197C>G	ENST00000399722.2	+	7	796	c.445C>G	c.(445-447)Caa>Gaa	p.Q149E	RBBP8_ENST00000399725.2_Missense_Mutation_p.Q149E|RBBP8_ENST00000327155.5_Missense_Mutation_p.Q149E|RBBP8_ENST00000585177.1_3'UTR|RBBP8_ENST00000360790.5_Missense_Mutation_p.Q149E	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	149					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TCAACAGCATCAAGCAGCTGA	0.403								Homologous recombination					15	21					0	0	0	0	G	20562197	C	G	20562197	3	3	40	1	0	0	0	0	1	0	0	0	13187	827	29	2	467	2	RBBP8	18	20562197	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	13330810	20562197	57515051	252	7764											
PARD6G	84552	broad.mit.edu	37	chr18	77960666	77960666	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaagttgtcatcattgttGatgggcagcaggtctccgtg	8	12	13	8	1	3	2	2	1	1	1	4	2	3	2	1	2	1	4	1	2	1	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr18:77960666G>A	ENST00000353265.3	-	2	419	c.222C>T	c.(220-222)atC>atT	p.I74I	AC139100.3_ENST00000588950.1_RNA|PARD6G_ENST00000470488.2_Silent_p.I74I	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	74	OPR.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CATCATTGTTGATGGGCAGCA	0.493													6	108					0	0	0	0	A	77960666	G	A	77960666	2	1	40	1	0	0	0	0	0	0	0	1	11518	1280	45	2		2	PARD6G	18	77960666	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	57398469	77960666	116582	253	7765											
ABCA7	10347	broad.mit.edu	37	chr19	1055346	1055346	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacccgcgcctggtgcgcCaggggtgagccatgccctgg	4	6	15	16	3	0	1	0	1	0	0	0	1	0	1	6	4	4	0	6	4	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:1055346C>T	ENST00000263094.6	+	30	4432	c.4201C>T	c.(4201-4203)Cag>Tag	p.Q1401*	ABCA7_ENST00000435683.2_Nonsense_Mutation_p.Q1263*|ABCA7_ENST00000433129.1_Nonsense_Mutation_p.Q1401*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1401					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CCTGGTGCGCCAGGGGTGAGC	0.637													5	18					0	0	0	0	T	1055346	C	T	1055346	4	4	40	1	0	0	0	0	0	1	0	0	37	595	21	4	4315	4	ABCA7	19	1055346	Nonsense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08		1055346	58073637	254	7766											
ZNF559	84527	broad.mit.edu	37	chr19	9453221	9453221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggaaagcttttgctaactCttcacatcttactgtacata	11	15	6	9	0	3	0	1	0	2	0	3	1	3	1	0	1	5	3	0	1	5	7			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:9453221C>G	ENST00000393883.2	+	6	1742	c.1094C>G	c.(1093-1095)tCt>tGt	p.S365C	ZNF559_ENST00000603380.1_Missense_Mutation_p.S365C|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.S285C|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000587557.1_Missense_Mutation_p.S429C	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTTGCTAACTCTTCACATCTT	0.378													13	23					0	0	0	0	G	9453221	C	G	9453221	3	3	40	1	0	0	0	0	1	0	0	0	18085	913	32	2	1108	2	ZNF559	19	9453221	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	8397875	9453221	49675762	255	7767											
TYK2	7297	broad.mit.edu	37	chr19	10469922	10469922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catgggcacatggccccgctCcctccgcagccacacatcca	8	5	8	20	2	0	0	0	0	0	0	3	0	3	0	6	2	1	3	6	2	0	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:10469922C>G	ENST00000525621.1	-	15	2585	c.2104G>C	c.(2104-2106)Gag>Cag	p.E702Q	TYK2_ENST00000529370.1_Missense_Mutation_p.E702Q|TYK2_ENST00000524462.1_Missense_Mutation_p.E517Q|TYK2_ENST00000264818.6_Missense_Mutation_p.E702Q	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	702	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGGCCCCGCTCCCTCCGCAGC	0.637													3	32					0	0	0	0	G	10469922	C	G	10469922	3	3	40	1	0	0	0	0	1	0	0	0	16906	864	30	2	1503	2	TYK2	19	10469922	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	1016701	10469922	48659061	256	7768											
PDE4A	5141	broad.mit.edu	37	chr19	10574474	10574474	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaaccccatgcaggtcctCcggaacatggtgcactgtgc	8	7	10	16	1	0	0	0	0	0	0	2	1	2	1	5	3	5	2	5	3	2	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:10574474C>A	ENST00000380702.2	+	15	1683	c.1683C>A	c.(1681-1683)ctC>ctA	p.L561L	PDE4A_ENST00000352831.6_Silent_p.L583L|PDE4A_ENST00000293683.5_Silent_p.L557L|PDE4A_ENST00000344979.3_Silent_p.L344L|PDE4A_ENST00000440014.2_Silent_p.L522L|PDE4A_ENST00000592685.1_Silent_p.L561L			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	583	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	TGCAGGTCCTCCGGAACATGG	0.587													33	62					1.414e-09	1.46914e-09	1	0	A	10574474	C	A	10574474	2	1	40	1	0	0	0	0	0	0	0	1	11710	842	30	2		2	PDE4A	19	10574474	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	104552	10574474	48554509	257	7769											
PLVAP	83483	broad.mit.edu	37	chr19	17487789	17487789	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaggtcgcggcgagcattCagccacatctgcatgatggc	8	8	12	13	3	2	1	1	1	1	0	4	2	3	1	2	3	3	2	2	3	0	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:17487789C>G	ENST00000252590.4	-	1	370	c.309G>C	c.(307-309)ctG>ctC	p.L103L		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	103						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCGAGCATTCAGCCACATCT	0.622													10	59					0	0	0	0	G	17487789	C	G	17487789	2	3	40	1	0	0	0	0	0	0	0	1	12188	813	29	2		2	PLVAP	19	17487789	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	6913315	17487789	41641194	258	7770											
NCAN	1463	broad.mit.edu	37	chr19	19356217	19356217	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgaaagcgggcgctggaaCgatgtcccctgcaactacaa	12	6	11	12	3	0	1	0	1	0	0	1	3	1	2	2	2	5	2	2	2	5	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:19356217C>T	ENST00000252575.5	+	13	3631	c.3588C>T	c.(3586-3588)aaC>aaT	p.N1196N	NCAN_ENST00000538881.1_Silent_p.N647N	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1196	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGCGCTGGAACGATGTCCCCT	0.552													21	56					0	0	0	0	T	19356217	C	T	19356217	2	4	40	1	0	0	0	0	0	0	0	1	10274	535	19	1		1	NCAN	19	19356217	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	1868428	19356217	39772766	259	7771											
FXYD5	53827	broad.mit.edu	37	chr19	35646421	35646421	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcggtctcactgacatCatggctgaccccagcatcgc	8	8	11	14	2	2	2	2	2	1	0	5	3	2	2	2	3	1	2	2	3	0	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:35646421C>A	ENST00000342879.3	+	0	746				FXYD5_ENST00000590686.1_Intron|FXYD5_ENST00000588699.1_Intron|FXYD5_ENST00000423817.3_Intron|FXYD5_ENST00000543307.1_Intron|FXYD5_ENST00000541435.2_Intron|FXYD5_ENST00000392218.2_Intron|FXYD5_ENST00000392219.2_Intron			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5						microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TCACTGACATCATGGCTGACC	0.627													12	51					7.03913e-09	7.27311e-09	1	0	A	35646421	C	A	35646421	1	1	40	1	0	0	0	0	0	0	0	0	6169	841	29	2		2	FXYD5	19	35646421	Translation_Start_Site	SNP	C	TCGA-BB-4227-01A-01D-1870-08	16290204	35646421	23482562	260	7772											
CAPN12	147968	broad.mit.edu	37	chr19	39234625	39234625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagtccggccccagctggtCatagccaagggcatcagggc	8	5	14	14	2	2	0	2	0	0	0	3	1	3	0	4	4	2	2	4	4	2	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:39234625C>T	ENST00000328867.4	-	1	489	c.181G>A	c.(181-183)Gac>Aac	p.D61N	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	61	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCCAGCTGGTCATAGCCAAGG	0.627													22	36					0	0	0	0	T	39234625	C	T	39234625	3	4	40	1	0	0	0	0	1	0	0	0	2650	826	29	2	2062	2	CAPN12	19	39234625	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	3588204	39234625	19894358	261	7773											
ZFP36	7538	broad.mit.edu	37	chr19	39898586	39898586	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcccccaccccctggcttCgcaccgctggctccccgcct	2	7	9	23	3	0	0	0	0	0	0	2	0	1	0	8	2	1	4	8	2	0	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:39898586C>T	ENST00000597629.1	+	2	320	c.246C>T	c.(244-246)ttC>ttT	p.F82F	ZFP36_ENST00000594045.1_3'UTR|ZFP36_ENST00000248673.3_Silent_p.F76F			P26651	TTP_HUMAN	ZFP36 ring finger protein	76					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCTGGCTTCGCACCGCTGG	0.706													22	33					0	0	0	0	T	39898586	C	T	39898586	2	4	40	1	0	0	0	0	0	0	0	1	17740	883	31	1		1	ZFP36	19	39898586	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	663961	39898586	19230397	262	7774											
PRX	57716	broad.mit.edu	37	chr19	40902497	40902497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttcatctcaggcacctttgGaagcttcatctcagggactt	8	14	8	11	0	4	0	4	0	2	0	6	2	4	2	1	3	1	2	1	3	1	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:40902497G>C	ENST00000324001.7	-	7	2032	c.1762C>G	c.(1762-1764)Cca>Gca	p.P588A	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	588	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCACCTTTGGAAGCTTCATC	0.567													90	198					0	0	0	0	C	40902497	G	C	40902497	3	2	40	1	0	0	0	0	1	0	0	0	12721	1174	41	2	2627	2	PRX	19	40902497	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	1003911	40902497	18226486	263	7775											
ZNF284	342909	broad.mit.edu	37	chr19	44591044	44591044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgggcctcaggtattttGagacataagagactccatac	12	10	11	8	0	1	2	1	1	0	2	2	4	2	2	2	3	1	1	2	3	3	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:44591044G>C	ENST00000421176.3	+	5	1629	c.1413G>C	c.(1411-1413)ttG>ttC	p.L471F	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				CAGGTATTTTGAGACATAAGA	0.413													33	37					0	0	0	0	C	44591044	G	C	44591044	3	2	40	1	0	0	0	0	1	0	0	0	17916	1281	45	2	1427	2	ZNF284	19	44591044	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	3688547	44591044	14537939	264	7776											
MARK4	57787	broad.mit.edu	37	chr19	45783693	45783693	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtccttgaccagccagaaGtacaacgaagtgaccgccac	13	5	10	13	2	0	3	0	2	0	1	1	5	1	3	5	0	3	1	5	0	4	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:45783693G>A	ENST00000300843.4	+	11	1365	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	MARK4_ENST00000262891.4_Silent_p.K356K	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	356	UBA.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCAGCCAGAAGTACAACGAAG	0.607													67	125					0	0	0	0	A	45783693	G	A	45783693	2	1	40	1	0	0	0	0	0	0	0	1	9384	1020	36	4		4	MARK4	19	45783693	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	1192649	45783693	13345290	265	7777											
DHX34	9704	broad.mit.edu	37	chr19	47884111	47884111	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cggctcacagggctagaagtCcagaacatgtatgtgggacc	11	7	13	10	1	1	2	1	0	0	2	2	3	2	3	2	3	1	3	2	3	4	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:47884111C>G	ENST00000328771.4	+	15	3370	c.3021C>G	c.(3019-3021)gtC>gtG	p.V1007V		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1007						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGCTAGAAGTCCAGAACATGT	0.597													30	44					0	0	0	0	G	47884111	C	G	47884111	2	3	40	1	0	0	0	0	0	0	0	1	4544	842	30	2		2	DHX34	19	47884111	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	2100418	47884111	11244872	266	7778											
GLTSCR2	29997	broad.mit.edu	37	chr19	48258620	48258620	+	Frame_Shift_Del	DEL	G	G	-																															cacagcgggtacagcaggccGcgttgcgggccgcccggctc																										TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:48258620delG	ENST00000246802.5	+	9	1107	c.1069delG	c.(1069-1071)cgfs	p.A357fs	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	357						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACAGCAGGCCGCGTTGCGGGC	0.721													2	4	---	---	---	---					-	48258620	G	-	48258620	7	5	40	1	0	1	0	1	0	0	0	0	6526	1087	38	0	1103	0	GLTSCR2	19	48258620	Frame_Shift_Del	DEL	G	TCGA-BB-4227-01A-01D-1870-08	374509	48258620	10870363	267	7779											
FAM83E	54854	broad.mit.edu	37	chr19	49106753	49106753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagccacaaggtctcacctCgttgtccccatcactggagc	8	8	8	17	1	2	0	2	0	1	0	5	1	3	1	5	2	2	1	5	2	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:49106753C>T	ENST00000263266.3	-	4	1363	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	392										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGTCTCACCTCGTTGTCCCCA	0.706													12	24					0	0	0	0	T	49106753	C	T	49106753	3	4	40	1	0	0	0	0	1	0	0	0	5683	893	31	1	270	1	FAM83E	19	49106753	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	848133	49106753	10022230	268	7780											
SCAF1	58506	broad.mit.edu	37	chr19	50156573	50156573	+	Frame_Shift_Del	DEL	C	C	-																															ggcagccaaggttcctagcaCcccgccccccaaggcagccc																										TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:50156573delC	ENST00000360565.3	+	7	3051	c.2927delC	c.(2926-2928)acfs	p.T976fs		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	976					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GTTCCTAGCACCCCGCCCCCC	0.682													2	4	---	---	---	---					-	50156573	C	-	50156573	7	5	40	1	0	1	0	1	0	0	0	0	13954	507	18	0	2949	0	SCAF1	19	50156573	Frame_Shift_Del	DEL	C	TCGA-BB-4227-01A-01D-1870-08	1049820	50156573	8972410	269	7781											
TSKS	60385	broad.mit.edu	37	chr19	50247585	50247585	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaattgccgcccgaactcctCcagaatgggtttcagtgggc	9	9	11	12	2	1	1	1	0	0	1	3	2	3	1	4	2	2	1	4	2	3	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:50247585C>G	ENST00000246801.3	-	8	1346	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	TSKS_ENST00000358830.3_Missense_Mutation_p.E222Q	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	422							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCGAACTCCTCCAGAATGGGT	0.597													32	52					0	0	0	0	G	50247585	C	G	50247585	3	3	40	1	0	0	0	0	1	0	0	0	16721	864	30	2	530	2	TSKS	19	50247585	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	91012	50247585	8881398	270	7782											
KLK2	3817	broad.mit.edu	37	chr19	51379884	51379884	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagactccagccatgacctCatgctgctccgcctgtcaga	9	8	9	15	1	2	3	2	1	0	2	4	4	4	3	5	0	3	2	5	0	1	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:51379884C>G	ENST00000325321.3	+	3	588	c.363C>G	c.(361-363)ctC>ctG	p.L121L	KLK2_ENST00000358049.4_Silent_p.L121L|KLK2_ENST00000391810.2_Silent_p.L19L			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	121	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GCCATGACCTCATGCTGCTCC	0.582			T	ETV4	prostate								24	42					0	0	0	0	G	51379884	C	G	51379884	2	3	40	1	0	0	0	0	0	0	0	1	8456	813	29	2		2	KLK2	19	51379884	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	1132299	51379884	7749099	271	7783											
ZNF836	162962	broad.mit.edu	37	chr19	52659059	52659059	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgaattctcttatgatttGaaaggtttccactgtcattg	10	18	7	6	0	2	3	1	3	1	0	4	3	3	3	1	1	0	1	1	1	4	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:52659059G>C	ENST00000322146.8	-	5	2398	c.1877C>G	c.(1876-1878)tCa>tGa	p.S626*	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Nonsense_Mutation_p.S626*	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTATGATTTGAAAGGTTTCC	0.408													77	141					0	0	0	0	C	52659059	G	C	52659059	4	2	40	1	0	0	0	0	0	1	0	0	18280	1294	45	2	935	2	ZNF836	19	52659059	Nonsense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	1279175	52659059	6469924	272	7784											
ZNF347	84671	broad.mit.edu	37	chr19	53643671	53643671	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtctgatgggtagttaggcTtgaacagatactaaagggtt	11	13	13	4	0	1	3	0	2	1	1	1	3	1	3	0	3	2	4	0	3	6	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:53643671T>C	ENST00000452676.2	-	5	2839	c.2413A>G	c.(2413-2415)Agc>Ggc	p.S805G	ZNF347_ENST00000334197.7_Missense_Mutation_p.S804G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.S805G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	804					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTAGTTAGGCTTGAACAGATA	0.418													66	101					0	0	0	0	C	53643671	T	C	53643671	3	2	40	1	0	0	0	0	1	0	0	0	17956	1609	56	5	113	5	ZNF347	19	53643671	Missense_Mutation	SNP	T	TCGA-BB-4227-01A-01D-1870-08	984612	53643671	5485312	273	7785											
ZNF211	10520	broad.mit.edu	37	chr19	58146057	58146057	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaggaatgggatctccttGatgaggctcagaaacacctg	11	8	14	8	0	2	3	1	2	1	1	3	6	2	6	2	4	1	1	2	4	2	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:58146057G>C	ENST00000544273.1	+	4	514	c.187G>C	c.(187-189)Gat>Cat	p.D63H	ZNF211_ENST00000240731.4_Missense_Mutation_p.D64H|ZNF211_ENST00000347302.3_Missense_Mutation_p.D51H|ZNF211_ENST00000254182.7_5'UTR|ZNF211_ENST00000391703.3_5'UTR|ZNF211_ENST00000299871.5_Missense_Mutation_p.D64H|ZNF211_ENST00000541801.1_5'UTR|ZNF211_ENST00000420680.1_Missense_Mutation_p.D55H			Q13398	ZN211_HUMAN	zinc finger protein 211	51	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGATCTCCTTGATGAGGCTCA	0.498													4	127					0	0	0	0	C	58146057	G	C	58146057	3	2	40	1	0	0	0	0	1	0	0	0	17862	1290	45	2	200	2	ZNF211	19	58146057	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	4502386	58146057	982926	274	7786											
MZF1	7593	broad.mit.edu	37	chr19	59080894	59080894	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggacttacctgggcctcctCaggcaggagggtgggtacag	8	7	16	10	0	1	0	1	0	0	0	2	2	2	2	3	6	2	2	3	6	2	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:59080894C>G	ENST00000215057.2	-	4	1200	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E214Q|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594108.1_Missense_Mutation_p.E214Q|MZF1_ENST00000594234.1_Missense_Mutation_p.E214Q	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	214					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TGGGCCTCCTCAGGCAGGAGG	0.597													30	45					0	0	0	0	G	59080894	C	G	59080894	3	3	40	1	0	0	0	0	1	0	0	0	10178	835	29	2	1576	2	MZF1	19	59080894	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	934837	59080894	48089	275	7787											
ITCH	83737	broad.mit.edu	37	chr20	33001680	33001680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatggtgaaactacatgttCagaaagtaagtgactacctt	15	11	8	7	0	1	3	1	2	0	1	1	3	1	3	1	1	3	2	1	1	6	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:33001680C>T	ENST00000374864.4	+	6	683	c.470C>T	c.(469-471)tCa>tTa	p.S157L	ITCH_ENST00000262650.6_Missense_Mutation_p.S157L|ITCH_ENST00000535650.1_Missense_Mutation_p.S47L	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	157					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ACTACATGTTCAGAAAGTAAG	0.328													22	28					0	0	0	0	T	33001680	C	T	33001680	3	4	40	1	0	0	0	0	1	0	0	0	7921	838	29	2	484	2	ITCH	20	33001680	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08		33001680	30023840	276	7788											
CEP250	11190	broad.mit.edu	37	chr20	34090860	34090860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaaaagcagttggttactCtggaatgcctggccctggaa	11	10	12	8	0	1	1	0	1	1	0	1	3	1	3	2	4	3	3	2	4	5	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:34090860C>G	ENST00000397527.1	+	30	5383	c.4663C>G	c.(4663-4665)Ctg>Gtg	p.L1555V	CEP250_ENST00000342580.4_Missense_Mutation_p.L1499V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1555	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GTTGGTTACTCTGGAATGCCT	0.498													27	82					0	0	0	0	G	34090860	C	G	34090860	3	3	40	1	0	0	0	0	1	0	0	0	3281	912	32	2	4769	2	CEP250	20	34090860	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	1089180	34090860	28934660	277	7789											
CEP250	11190	broad.mit.edu	37	chr20	34091370	34091370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcacagcgcgggagcctaGagcacatgaagctgatcctg	12	5	13	11	2	0	3	0	2	0	1	1	4	1	4	2	1	5	3	2	1	3	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:34091370G>C	ENST00000397527.1	+	30	5893	c.5173G>C	c.(5173-5175)Gag>Cag	p.E1725Q	CEP250_ENST00000342580.4_Missense_Mutation_p.E1669Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1725	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGGGAGCCTAGAGCACATGAA	0.577													56	92					0	0	0	0	C	34091370	G	C	34091370	3	2	40	1	0	0	0	0	1	0	0	0	3281	943	33	2	5279	2	CEP250	20	34091370	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	510	34091370	28934150	278	7790											
DLGAP4	22839	broad.mit.edu	37	chr20	35155318	35155330	+	Frame_Shift_Del	DEL	GAGGCCCGCAAGA	GAGGCCCGCAAGA	-																															ccagcgacaagcagcgccagGaggcccgcaagagactcctg																										TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:35155318_35155330delGAGGCCCGCAAGA	ENST00000373913.3	+	13	3334_3346	c.2854_2866delGAGGCCCGCAAGA	c.(2854-2868)gafs	p.EARKR952fs	RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000373907.2_Frame_Shift_Del_p.EARKR955fs|DLGAP4_ENST00000401952.2_Frame_Shift_Del_p.EARKR952fs|DLGAP4_ENST00000340491.4_Frame_Shift_Del_p.EARKR416fs|DLGAP4_ENST00000339266.5_Frame_Shift_Del_p.EARKR955fs|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	955					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCAGCGCCAGGAGGCCCGCAAGAGACTCCTGGC	0.638													23	45	---	---	---	---					-	35155330	GAGGCCCGCAAGA	-	35155318	7	5	40	1	0	1	0	1	0	0	0	0	4599	1175	41	0	3024	0	DLGAP4	20	35155318	Frame_Shift_Del	DEL	GAGGCCCGCAAGA	TCGA-BB-4227-01A-01D-1870-08	1063948	35155318	27870202	279	7791											
MYL9	10398	broad.mit.edu	37	chr20	35173441	35173441	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgatggcttcattgacaagGaggacctgcacgacatgctg	10	9	13	9	1	1	2	1	2	0	0	1	5	1	4	1	3	2	3	1	3	1	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:35173441G>T	ENST00000279022.2	+	2	258	c.154G>T	c.(154-156)Gag>Tag	p.E52*	RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Nonsense_Mutation_p.E52*|RP5-977B1.7_ENST00000439595.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	52	EF-hand 1.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CATTGACAAGGAGGACCTGCA	0.542													13	74					3.41278e-10	3.56574e-10	1	0	T	35173441	G	T	35173441	4	4	40	1	0	0	0	0	0	1	0	0	10124	1175	41	2	156	2	MYL9	20	35173441	Nonsense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	18123	35173441	27852079	280	7792											
ZHX3	23051	broad.mit.edu	37	chr20	39831571	39831571	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcattcacttttttccgtctCtctgaaaaccagctatcaat	10	15	4	12	1	4	1	2	1	2	0	6	1	5	1	2	0	2	2	2	0	4	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:39831571C>G	ENST00000309060.3	-	4	2401	c.1986G>C	c.(1984-1986)gaG>gaC	p.E662D	ZHX3_ENST00000540170.1_Missense_Mutation_p.E662D|ZHX3_ENST00000560361.1_Missense_Mutation_p.E662D|ZHX3_ENST00000559234.1_Missense_Mutation_p.E662D|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.E662D|ZHX3_ENST00000432768.2_Missense_Mutation_p.E662D			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	662					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TTTTCCGTCTCTCTGAAAACC	0.493													103	182					0	0	0	0	G	39831571	C	G	39831571	3	3	40	1	0	0	0	0	1	0	0	0	17772	912	32	2	892	2	ZHX3	20	39831571	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	4658130	39831571	23193949	281	7793											
TSHZ2	128553	broad.mit.edu	37	chr20	51871400	51871400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagagagtaaaaaagaaaGgccagaggaaaccagcaagg	22	1	13	5	0	0	3	0	0	0	3	0	6	0	4	2	3	2	2	2	3	7	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:51871400G>C	ENST00000371497.5	+	2	2290	c.1403G>C	c.(1402-1404)aGg>aCg	p.R468T	TSHZ2_ENST00000603338.2_Missense_Mutation_p.R465T|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R465T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	468					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAAAAGAAAGGCCAGAGGAA	0.423													56	96					0	0	0	0	C	51871400	G	C	51871400	3	2	40	1	0	0	0	0	1	0	0	0	16719	1000	35	4	1409	4	TSHZ2	20	51871400	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	12039829	51871400	11154120	282	7794											
HUNK	30811	broad.mit.edu	37	chr21	33371383	33371383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgttaaggaagcgccatcaGagtctgcagccatctgcaga	12	8	11	10	1	3	2	1	0	2	2	3	3	3	3	2	1	4	3	2	1	2	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr21:33371383G>C	ENST00000270112.2	+	11	2391	c.2031G>C	c.(2029-2031)caG>caC	p.Q677H		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	677					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGCGCCATCAGAGTCTGCAGC	0.612													30	63					0	0	0	0	C	33371383	G	C	33371383	3	2	40	1	0	0	0	0	1	0	0	0	7511	933	33	2	2073	2	HUNK	21	33371383	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08		33371383	14758512	283	7795											
SLC5A3	6526	broad.mit.edu	37	chr21	35467896	35467896	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagccttgtctctgattctCtatattttcaccaagctctc	7	16	5	13	0	4	1	1	1	3	0	7	1	4	1	2	0	2	2	2	0	3	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr21:35467896C>G	ENST00000381151.3	+	2	911	c.399C>G	c.(397-399)ctC>ctG	p.L133L	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	133						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CTCTGATTCTCTATATTTTCA	0.448													92	170					0	0	0	0	G	35467896	C	G	35467896	2	3	40	1	0	0	0	0	0	0	0	1	14754	900	32	2		2	SLC5A3	21	35467896	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	2096513	35467896	12661999	284	7796											
UMODL1	89766	broad.mit.edu	37	chr21	43531075	43531075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcacgggaacagcagccctCggcctagagaacttcacctt	10	6	11	14	2	1	1	1	0	0	1	2	3	1	2	3	3	4	2	3	3	3	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr21:43531075C>T	ENST00000400427.1	+	11	1923	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	UMODL1_ENST00000400424.1_Silent_p.L509L|UMODL1_ENST00000408989.2_Silent_p.L581L|UMODL1_ENST00000408910.2_Silent_p.L581L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	576	EGF-like 2; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGCAGCCCTCGGCCTAGAGA	0.657													18	42					0	0	0	0	T	43531075	C	T	43531075	2	4	40	1	0	0	0	0	0	0	0	1	17076	871	31	1		1	UMODL1	21	43531075	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08	8063179	43531075	4598820	285	7797											
NDUFV3	4731	broad.mit.edu	37	chr21	44324239	44324239	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggacaggcaatcgtggaaGatcagataccaccaagcaat	15	6	11	9	1	1	2	1	0	0	2	2	4	1	4	2	3	2	2	2	3	5	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr21:44324239G>C	ENST00000354250.2	+	3	1186	c.1117G>C	c.(1117-1119)Gat>Cat	p.D373H	NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AATCGTGGAAGATCAGATACC	0.572													21	36					0	0	0	0	C	44324239	G	C	44324239	3	2	40	1	0	0	0	0	1	0	0	0	10371	942	33	2	1127	2	NDUFV3	21	44324239	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	793164	44324239	3805656	286	7798											
TSSK2	23617	broad.mit.edu	37	chr22	19119070	19119070	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacacctactgactttgTggagagattccttcctcggg	10	11	10	10	1	0	2	0	1	0	1	3	5	2	3	3	2	2	0	3	2	3	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr22:19119070T>G	ENST00000399635.2	+	1	750	c.158T>G	c.(157-159)gTg>gGg	p.V53G	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	53	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					ACTGACTTTGTGGAGAGATTC	0.498													22	30					0	0	0	0	G	19119070	T	G	19119070	3	3	40	1	0	0	0	0	1	0	0	0	16764	1696	59	5	160	5	TSSK2	22	19119070	Missense_Mutation	SNP	T	TCGA-BB-4227-01A-01D-1870-08		19119070	32185496	287	7799											
TOP3B	8940	broad.mit.edu	37	chr22	22317203	22317203	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctctgcaggtacttgcagtCatggctgaccgtggcgatga	7	10	14	10	2	2	2	1	2	1	0	2	3	2	2	1	3	3	5	1	3	1	2			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr22:22317203C>G	ENST00000398793.2	-	12	1701	c.1267G>C	c.(1267-1269)Gac>Cac	p.D423H	TOP3B_ENST00000357179.5_Missense_Mutation_p.D423H|TOP3B_ENST00000413067.2_Missense_Mutation_p.D152H	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	423					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TACTTGCAGTCATGGCTGACC	0.612													36	64					0	0	0	0	G	22317203	C	G	22317203	3	3	40	1	0	0	0	0	1	0	0	0	16463	826	29	2	1349	2	TOP3B	22	22317203	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	3198133	22317203	28987363	288	7800											
CABIN1	23523	broad.mit.edu	37	chr22	24483645	24483645	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagtggagaggcgagctGccccctgagctcgtgcagca	9	5	15	12	2	0	2	0	1	0	1	1	4	0	2	2	2	6	5	2	2	1	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr22:24483645G>A	ENST00000398319.2	+	23	3889	c.3504G>A	c.(3502-3504)ctG>ctA	p.L1168L	CABIN1_ENST00000263119.5_Silent_p.L1168L|CABIN1_ENST00000405822.2_Silent_p.L1118L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1168					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAGGCGAGCTGCCCCCTGAGC	0.567													54	63					0	0	0	0	A	24483645	G	A	24483645	2	1	40	1	0	0	0	0	0	0	0	1	2553	1306	46	4		4	CABIN1	22	24483645	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	2166442	24483645	26820921	289	7801											
RFPL2	10739	broad.mit.edu	37	chr22	32590359	32590359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctggaagctcctctgtcctCcagctgcttccactgggcgc	4	10	11	16	1	1	0	0	0	1	0	5	1	5	1	4	2	3	4	4	2	1	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr22:32590359C>G	ENST00000400237.1	-	3	1173	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	RFPL2_ENST00000400236.3_5'UTR|RFPL2_ENST00000248983.4_Intron			O75678	RFPL2_HUMAN	ret finger protein-like 2	80							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CCTCTGTCCTCCAGCTGCTTC	0.562													15	23					0	0	0	0	G	32590359	C	G	32590359	3	3	40	1	0	0	0	0	1	0	0	0	13336	864	30	2	992	2	RFPL2	22	32590359	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	8106714	32590359	18714207	290	7802											
RAC2	5880	broad.mit.edu	37	chr22	37637674	37637674	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgttggtggtgtagctgatGagaaggcaggtcttgcccac	7	10	16	8	1	1	2	0	2	1	1	1	3	1	2	1	4	2	4	1	4	2	3			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr22:37637674G>A	ENST00000249071.6	-	2	181	c.60C>T	c.(58-60)ctC>ctT	p.L20L	RAC2_ENST00000405484.1_Silent_p.L13L|RAC2_ENST00000401529.3_Silent_p.L20L|RAC2_ENST00000406508.1_5'UTR	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	20					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGTAGCTGATGAGAAGGCAGG	0.622													52	72					0	0	0	0	A	37637674	G	A	37637674	2	1	40	1	0	0	0	0	0	0	0	1	13057	1277	45	2		2	RAC2	22	37637674	Silent	SNP	G	TCGA-BB-4227-01A-01D-1870-08	5047315	37637674	13666892	291	7803											
TOB2	10766	broad.mit.edu	37	chr22	41832490	41832490	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggtgccagccccactgcctCcaaacgggcctggggtgccg	6	5	14	16	2	0	0	0	0	0	0	1	0	1	0	7	4	5	0	7	4	1	0			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr22:41832490C>G	ENST00000327492.3	-	2	1566	c.860G>C	c.(859-861)gGa>gCa	p.G287A		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	287				QGSGTPGPFGGSGAGTCNSSSFDMAQVFGGGANSLFLEKT -> RAAAPQARLEAVGLAPATAAALTWPRYLEVVPTASSWR RH (in Ref. 1; BAA10971).	female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CCCACTGCCTCCAAACGGGCC	0.607													25	24					0	0	0	0	G	41832490	C	G	41832490	3	3	40	1	0	0	0	0	1	0	0	0	16442	855	30	2	178	2	TOB2	22	41832490	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	4194816	41832490	9472076	292	7804											
PPP2R3B	28227	broad.mit.edu	37	chrX	299609	299609	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagccagcttgcagcgcttCaggtcctgcagcgtgatctt	6	12	11	12	2	2	1	1	1	1	0	3	1	3	1	2	1	6	4	2	1	1	4			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chrX:299609C>G	ENST00000390665.3	-	11	1392	c.1374G>C	c.(1372-1374)ctG>ctC	p.L458L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	458					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCAGCGCTTCAGGTCCTGCA	0.622													26	111					0	0	0	0	G	299609	C	G	299609	2	3	40	1	0	0	0	0	0	0	0	1	12465	813	29	2		2	PPP2R3B	23	299609	Silent	SNP	C	TCGA-BB-4227-01A-01D-1870-08		299609	154970951	293	7805											
ATXN3L	92552	broad.mit.edu	37	chrX	13337468	13337469	+	Frame_Shift_Ins	INS	-	-	T																															tgctctttttgttttactaaINStttttttccattaagttttg																										TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chrX:13337468_13337469insT	ENST00000380622.2	-	1	1049_1050	c.585_586insA	c.(583-588)aatagtfs	p.NS195fs	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	195					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGTTTTACTAATTTTTTTCCAT	0.381													158	70	---	---	---	---					T	13337469	-	T	13337468	7	5	40	1	0	1	1	0	0	0	0	0	1218	98	4	0	485	0	ATXN3L	23	13337468	Frame_Shift_Ins	INS	-	TCGA-BB-4227-01A-01D-1870-08	13037859	13337468	141933092	294	7806											
USP11	8237	broad.mit.edu	37	chrX	47098752	47098752	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacccccgccccacagatGagataaactggcgcctcaag	11	5	8	17	2	1	2	1	1	0	2	2	3	2	2	6	1	1	0	6	1	3	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chrX:47098752G>C	ENST00000377107.2	+	3	643	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	USP11_ENST00000218348.3_Missense_Mutation_p.E140Q			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	140	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCCCACAGATGAGATAAACTG	0.562													17	5					0	0	0	0	C	47098752	G	C	47098752	3	2	40	1	0	0	0	0	1	0	0	0	17138	1291	45	2	428	2	USP11	23	47098752	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	33761284	47098752	108171808	295	7807											
ARHGEF9	23229	broad.mit.edu	37	chrX	62917013	62917013	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taagatacttacgtgctctaGgaagcagggtcctatctcgc	10	11	10	10	2	2	1	0	0	2	1	4	2	3	2	1	2	4	2	1	2	6	5			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chrX:62917013G>C	ENST00000253401.6	-	4	1353	c.553C>G	c.(553-555)Cta>Gta	p.L185V	ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.L132V|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.L183V|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.L164V|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.L83V	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	185	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						ACGTGCTCTAGGAAGCAGGGT	0.458													16	2					0	0	0	0	C	62917013	G	C	62917013	3	2	40	1	0	0	0	0	1	0	0	0	914	991	35	4	1025	4	ARHGEF9	23	62917013	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	15818261	62917013	92353547	296	7808											
ITGB1BP2	26548	broad.mit.edu	37	chrX	70524109	70524109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgactgtatatggccagattCcacttcctgcgtttaactgg	8	14	9	10	1	0	2	0	1	0	1	2	2	2	2	3	2	2	2	3	2	3	6			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chrX:70524109C>T	ENST00000538820.1	+	8	998	c.658C>T	c.(658-660)Cca>Tca	p.P220S	ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.P238S|ITGB1BP2_ENST00000465388.1_3'UTR			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	238	CS.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					TGGCCAGATTCCACTTCCTGC	0.473													46	13					0	0	0	0	T	70524109	C	T	70524109	3	4	40	1	0	0	0	0	1	0	0	0	7945	855	30	2	746	2	ITGB1BP2	23	70524109	Missense_Mutation	SNP	C	TCGA-BB-4227-01A-01D-1870-08	7607096	70524109	84746451	297	7809											
ACRC	93953	broad.mit.edu	37	chrX	70814205	70814205	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atccttaatgtccagtcaagGagtggtgacaccagtgggtc	10	10	12	9	0	1	1	1	1	0	0	4	2	3	2	3	3	0	0	3	3	2	1			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chrX:70814205G>C	ENST00000373695.1	+	4	702	c.165G>C	c.(163-165)agG>agC	p.R55S	ACRC_ENST00000373696.3_Missense_Mutation_p.R55S			Q96QF7	ACRC_HUMAN	acidic repeat containing	55						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TCCAGTCAAGGAGTGGTGACA	0.403													32	8					0	0	0	0	C	70814205	G	C	70814205	3	2	40	1	0	0	0	0	1	0	0	0	171	1165	41	2	179	2	ACRC	23	70814205	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	290096	70814205	84456355	298	7810											
OCRL	4952	broad.mit.edu	37	chrX	128692624	128692624	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcagggcttcttggatttGaagacaatttttcttctatg	8	19	8	6	0	4	2	1	1	3	1	4	3	4	3	0	2	0	1	0	2	3	8			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chrX:128692624G>C	ENST00000371113.4	+	7	619	c.454G>C	c.(454-456)Gaa>Caa	p.E152Q	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.E152Q	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	152					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCTTGGATTTGAAGACAATTT	0.408													3	52					0	0	0	0	C	128692624	G	C	128692624	3	2	40	1	0	0	0	0	1	0	0	0	10894	1291	45	2	480	2	OCRL	23	128692624	Missense_Mutation	SNP	G	TCGA-BB-4227-01A-01D-1870-08	57878419	128692624	26577936	299	7811											
MACF1	23499	broad.mit.edu	37	chr1	39907692	39907692	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccctgttggcactgacctCaatactgttaaagatcagtt	10	12	7	12	0	2	2	2	1	0	1	2	2	2	2	3	1	1	4	3	1	4	4			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:39907692C>G	ENST00000564288.1	+	75	19518	c.18741C>G	c.(18739-18741)ctC>ctG	p.L6247L	MACF1_ENST00000539005.1_Silent_p.L4058L|MACF1_ENST00000567887.1_Silent_p.L6284L|MACF1_ENST00000372915.3_Silent_p.L6146L|MACF1_ENST00000361689.2_Silent_p.L4188L|MACF1_ENST00000317713.7_Silent_p.L4188L|MACF1_ENST00000545844.1_Silent_p.L4188L|MACF1_ENST00000289893.4_Silent_p.L4690L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6256					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCACTGACCTCAATACTGTTA	0.353													3	145					0	0	0	0	G	39907692	C	G	39907692	2	3	41	1	0	0	0	0	0	0	0	1	9209	813	29	2		2	MACF1	1	39907692	Silent	SNP	C	TCGA-BB-4228-01A-01D-1434-08		39907692	209342929	1	7812											
CRCT1	54544	broad.mit.edu	37	chr1	152487926	152487926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtcgtcccagggccccgctCcgtgtcccgccccggcgccc	1	5	13	22	6	0	0	0	0	0	0	4	0	3	0	8	3	0	1	8	3	0	0			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:152487926C>T	ENST00000368790.3	+	2	140	c.67C>T	c.(67-69)Ccg>Tcg	p.P23S		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	23										lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGccccgctccgtgtcccgc	0.706													19	13					0	0	0	0	T	152487926	C	T	152487926	3	4	41	1	0	0	0	0	1	0	0	0	3883	855	30	2	69	2	CRCT1	1	152487926	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08	112580234	152487926	96762695	2	7813											
KPRP	448834	broad.mit.edu	37	chr1	152732518	152732520	+	In_Frame_Del	DEL	AAC	AAC	-																															atgtagaatgcccagtccagAactatgtaccctgtccagct																										TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:152732518_152732520delAAC	ENST00000368773.1	+	2	512_514	c.454_456delAAC	c.(454-456)del	p.N152del	KPRP_ENST00000606109.1_In_Frame_Del_p.N152del	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	152	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAGTCCAGAACTATGTACCCT	0.507													96	129	---	---	---	---					-	152732520	AAC	-	152732518	7	5	41	1	0	1	0	1	0	0	0	0	8488	246	9	0	456	0	KPRP	1	152732518	In_Frame_Del	DEL	AAC	TCGA-BB-4228-01A-01D-1434-08	244592	152732518	96518103	3	7814											
PVRL4	81607	broad.mit.edu	37	chr1	161043540	161043540	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtccgtgtgatgggaatgCagcctccggatggagttctc	6	10	16	9	2	1	1	0	1	1	0	4	4	3	4	3	4	2	2	3	4	1	1			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:161043540C>T	ENST00000368012.3	-	7	1505	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	PVRL4_ENST00000453926.2_Silent_p.L135L|PVRL4_ENST00000486694.1_5'UTR	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	401					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GATGGGAATGCAGCCTCCGGA	0.622													5	237					0	0	0	0	T	161043540	C	T	161043540	2	4	41	1	0	0	0	0	0	0	0	1	12924	697	25	4		4	PVRL4	1	161043540	Silent	SNP	C	TCGA-BB-4228-01A-01D-1434-08	8311022	161043540	88207081	4	7815											
KCNT2	343450	broad.mit.edu	37	chr1	196227545	196227545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcactggatgttgagttgCggtggttgctgcggtggtgc	4	13	18	6	2	1	1	1	1	0	0	1	3	1	2	0	5	4	4	0	5	0	3			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:196227545C>T	ENST00000367433.5	-	25	3019	c.2918G>A	c.(2917-2919)cGc>cAc	p.R973H	KCNT2_ENST00000367431.4_Missense_Mutation_p.R931H|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.R997H|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	997						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGTTGAGTTGCGGTGGTTGCT	0.483													74	100					0	0	0	0	T	196227545	C	T	196227545	3	4	41	1	0	0	0	0	1	0	0	0	8145	768	27	1	429	1	KCNT2	1	196227545	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08	35184005	196227545	53023076	5	7816											
IRF2BP2	359948	broad.mit.edu	37	chr1	234743346	234743348	+	In_Frame_Del	DEL	TTG	TTG	-																															aggcatgactgccccctgcaTtgtctgctactaagatcagg																										TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:234743346_234743348delTTG	ENST00000366609.3	-	2	1329_1331	c.1299_1301delCAA	c.(1297-1302)gat>ga	p.DN433del	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_In_Frame_Del_p.DN417del|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCCCCCTGCATTGTCTGCTACTA	0.581													100	182	---	---	---	---					-	234743348	TTG	-	234743346	7	5	41	1	0	1	0	1	0	0	0	0	7883	1493	52	0	466	0	IRF2BP2	1	234743346	In_Frame_Del	DEL	TTG	TCGA-BB-4228-01A-01D-1434-08	38515801	234743346	14507275	6	7817											
NEB	4703	broad.mit.edu	37	chr2	152501079	152501079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctcctcataacccattCggtagagtttctgttaagaa	11	13	7	10	1	3	2	2	0	1	2	5	2	4	2	2	1	2	4	2	1	4	5			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr2:152501079C>A	ENST00000397345.3	-	56	7749	c.7547G>T	c.(7546-7548)cGa>cTa	p.R2516L	NEB_ENST00000409198.1_Missense_Mutation_p.R2516L|NEB_ENST00000604864.1_Missense_Mutation_p.R2516L|NEB_ENST00000172853.10_Missense_Mutation_p.R2516L|NEB_ENST00000427231.2_Missense_Mutation_p.R2516L|NEB_ENST00000603639.1_Missense_Mutation_p.R2516L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2516					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATAACCCATTCGGTAGAGTTT	0.388													3	126					0.115264	0.122653	1	0	A	152501079	C	A	152501079	3	1	41	1	0	0	0	0	1	0	0	0	10372	884	31	3	18647	3	NEB	2	152501079	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08		152501079	90698294	7	7818											
COL3A1	1281	broad.mit.edu	37	chr2	189854843	189854843	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatcaggtagacccggaCgacctggagagcgaggattg	12	5	16	8	3	1	3	1	0	0	3	1	9	1	5	2	4	1	1	2	4	2	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr2:189854843C>T	ENST00000304636.3	+	9	882	c.712C>T	c.(712-714)Cga>Tga	p.R238*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R238*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	238	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.R238*(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TAGACCCGGACGACCTGGAGA	0.383													35	73					0	0	0	0	T	189854843	C	T	189854843	4	4	41	1	0	0	0	0	0	1	0	0	3718	528	19	1	746	1	COL3A1	2	189854843	Nonsense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08	37353764	189854843	53344530	8	7819											
IFRD2	7866	broad.mit.edu	37	chr3	50326114	50326114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcacctcaaagccgaagCgcactatctcttcttcgcat	11	9	7	14	3	3	1	1	0	2	1	5	2	3	1	2	0	3	3	2	0	3	3			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr3:50326114C>T	ENST00000436390.1	-	13	1549	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	IFRD2_ENST00000336089.4_Missense_Mutation_p.R517H|IFRD2_ENST00000417626.2_Missense_Mutation_p.R351H|IFRD2_ENST00000429673.2_Missense_Mutation_p.R415H			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	415							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAAGCCGAAGCGCACTATCTC	0.597													18	2					0	0	0	0	T	50326114	C	T	50326114	3	4	41	1	0	0	0	0	1	0	0	0	7607	768	27	1	288	1	IFRD2	3	50326114	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08		50326114	147696316	9	7820											
MRPL3	11222	broad.mit.edu	37	chr3	131190031	131190031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacaccagttgcaacagctCcaggtctcctgtgggttttc	7	12	9	13	0	2	0	1	0	1	0	5	0	3	0	3	2	3	4	3	2	1	3			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr3:131190031C>A	ENST00000264995.3	-	7	869	c.722G>T	c.(721-723)gGa>gTa	p.G241V	MRPL3_ENST00000425847.2_Missense_Mutation_p.G268V	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	241					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TGCAACAGCTCCAGGTCTCCT	0.423													8	148					0.00307968	0.00340818	1	0	A	131190031	C	A	131190031	3	1	41	1	0	0	0	0	1	0	0	0	9863	855	30	2	340	2	MRPL3	3	131190031	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08	80863917	131190031	66832399	10	7821											
TBC1D14	57533	broad.mit.edu	37	chr4	7016236	7016236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatttgccgaaattatttgCgcatttcaagaagaacaacc	16	11	6	8	2	1	2	1	0	0	2	1	3	1	2	2	0	4	1	2	0	7	4			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr4:7016236C>T	ENST00000409757.4	+	12	1833	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	TBC1D14_ENST00000451522.2_Missense_Mutation_p.A290V|TBC1D14_ENST00000410031.1_Missense_Mutation_p.A342V|TBC1D14_ENST00000448507.1_Missense_Mutation_p.A570V|TBC1D14_ENST00000446947.2_Missense_Mutation_p.A217V	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	570	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AAATTATTTGCGCATTTCAAG	0.358													3	66					0	0	0	0	T	7016236	C	T	7016236	3	4	41	1	0	0	0	0	1	0	0	0	15694	768	27	1	1758	1	TBC1D14	4	7016236	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08		7016236	184138040	11	7822											
OCIAD2	132299	broad.mit.edu	37	chr4	48894854	48894854	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaaaatggaatttactctgGcatactcctatgtatgatac	15	13	6	7	0	1	1	0	1	1	0	2	2	2	2	1	2	3	2	1	2	9	6			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr4:48894854G>A	ENST00000508632.1	-	6	550	c.318C>T	c.(316-318)tgC>tgT	p.C106C	OCIAD2_ENST00000273860.4_Intron|OCIAD2_ENST00000508069.2_5'UTR	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	106	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						ATTTACTCTGGCATACTCCTA	0.418													5	323					0	0	0	0	A	48894854	G	A	48894854	2	1	41	1	0	0	0	0	0	0	0	1	10889	1195	42	4		4	OCIAD2	4	48894854	Silent	SNP	G	TCGA-BB-4228-01A-01D-1434-08	41878618	48894854	142259422	12	7823											
FAT4	79633	broad.mit.edu	37	chr4	126372965	126372965	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaatgtcttccacaggAactgtgcatatcacagttat	12	12	6	11	0	3	0	2	0	1	0	4	1	4	1	2	1	2	2	2	1	4	3			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr4:126372965A>G	ENST00000394329.3	+	9	10807	c.10794A>G	c.(10792-10794)ggA>ggG	p.G3598G	FAT4_ENST00000335110.5_Silent_p.G1896G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3598	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCCACAGGAACTGTGCATA	0.428													125	155					0	0	0	0	G	126372965	A	G	126372965	2	3	41	1	0	0	0	0	0	0	0	1	5737	233	9	5		5	FAT4	4	126372965	Silent	SNP	A	TCGA-BB-4228-01A-01D-1434-08	77478111	126372965	64781311	13	7824											
FBXW7	55294	broad.mit.edu	37	chr4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcatattgaacacagcGgactgctgcaacatgaccca	13	7	8	13	1	1	2	1	2	0	0	1	3	1	3	2	1	5	2	2	1	3	2	rs149680468		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								100	120					0	0	0	0	C	153247289	G	C	153247289	3	2	41	1	0	0	0	0	1	0	0	0	5814	1116	39	3	622	3	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08	26874324	153247289	37906987	14	7825											
HMGCR	3156	broad.mit.edu	37	chr5	74651207	74651207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcttggtggaggtgccagCagccgagtccttgcagatgg	7	9	16	9	1	0	1	0	0	0	1	1	3	1	2	3	4	5	3	3	4	1	3			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr5:74651207C>A	ENST00000287936.4	+	14	1896	c.1740C>A	c.(1738-1740)agC>agA	p.S580R	HMGCR_ENST00000511206.1_Missense_Mutation_p.S580R|HMGCR_ENST00000343975.5_Missense_Mutation_p.S527R	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	580	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GAGGTGCCAGCAGCCGAGTCC	0.493													94	160					8.45e-40	1.00193e-39	1	0	A	74651207	C	A	74651207	3	1	41	1	0	0	0	0	1	0	0	0	7281	709	25	4	1790	4	HMGCR	5	74651207	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08		74651207	106264053	15	7826											
PCDHA3	56145	broad.mit.edu	37	chr5	140181621	140181621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaataaggatatcgcgtattCtttcaatacggacatgtcag	14	12	8	7	3	3	0	2	0	1	0	4	2	3	2	0	2	1	1	0	2	6	6			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr5:140181621C>G	ENST00000522353.2	+	1	839	c.839C>G	c.(838-840)tCt>tGt	p.S280C	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S280C|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGCGTATTCTTTCAATACG	0.388													69	78					0	0	0	0	G	140181621	C	G	140181621	3	3	41	1	0	0	0	0	1	0	0	0	11596	913	32	2	841	2	PCDHA3	5	140181621	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08	65530414	140181621	40733639	16	7827											
PIM1	5292	broad.mit.edu	37	chr6	37140830	37140830	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcgctaccatggcaggtcGgcggcagtctggtccctggg	5	8	15	13	3	1	0	0	0	1	0	4	0	2	0	2	6	1	3	2	6	1	1			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr6:37140830G>A	ENST00000373509.5	+	5	1039	c.666G>A	c.(664-666)tcG>tcA	p.S222S	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	313	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ATGGCAGGTCGGCGGCAGTCT	0.522			T	BCL6	NHL								65	97					0	0	0	0	A	37140830	G	A	37140830	2	1	41	1	0	0	0	0	0	0	0	1	11999	1103	39	1		1	PIM1	6	37140830	Silent	SNP	G	TCGA-BB-4228-01A-01D-1434-08		37140830	133974237	17	7828											
SYNCRIP	10492	broad.mit.edu	37	chr6	86324547	86324547	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaccatagttaccagaaTgatcaccaccttggagcggt	12	10	9	10	1	1	2	1	1	0	1	1	3	1	3	4	2	3	2	4	2	4	4	rs147197492		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr6:86324547T>A	ENST00000369622.3	-	11	2299	c.1799A>T	c.(1798-1800)cAt>cTt	p.H600L	RP11-321N4.5_ENST00000503906.1_Intron|SYNCRIP_ENST00000355238.6_Intron	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	600					CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GTTACCAGAATGATCACCACC	0.478													90	113					0	0	0	0	A	86324547	T	A	86324547	3	1	41	1	0	0	0	0	1	0	0	0	15535	1464	51	5	122	5	SYNCRIP	6	86324547	Missense_Mutation	SNP	T	TCGA-BB-4228-01A-01D-1434-08	49183717	86324547	84790520	18	7829											
FNDC1	84624	broad.mit.edu	37	chr6	159653589	159653589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgtccagcgttctccGcgacagaagctctgtgcacc	6	8	10	17	4	2	1	0	0	2	1	5	2	4	1	5	0	3	3	5	0	1	1			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr6:159653589G>A	ENST00000297267.9	+	11	2245	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	682	Ser-rich.					extracellular region		p.R682H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCGTTCTCCGCGACAGAAGC	0.716													19	21					0	0	0	0	A	159653589	G	A	159653589	3	1	41	1	0	0	0	0	1	0	0	0	6013	1087	38	1	2087	1	FNDC1	6	159653589	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08	73329042	159653589	11461478	19	7830											
PLG	5340	broad.mit.edu	37	chr6	161155067	161155067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtaggtggtccctggtGctacacgacaaatccaagaa	12	9	11	9	1	0	2	0	1	0	1	2	3	2	2	2	3	2	2	2	3	5	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr6:161155067G>A	ENST00000308192.9	+	13	1691	c.1628G>A	c.(1627-1629)tGc>tAc	p.C543Y		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	543	Kringle 5.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGTCCCTGGTGCTACACGACA	0.473													30	31					0	0	0	0	A	161155067	G	A	161155067	3	1	41	1	0	0	0	0	1	0	0	0	12158	1319	46	4	1682	4	PLG	6	161155067	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08	1501478	161155067	9960000	20	7831											
GNB2	2783	broad.mit.edu	37	chr7	100275401	100275401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtcgtgttgccgcttcctgGatgacaaccaaatcatcacc	9	11	8	13	2	2	1	2	1	0	0	4	2	3	2	4	1	2	2	4	1	2	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr7:100275401G>A	ENST00000303210.4	+	7	939	c.457G>A	c.(457-459)Gat>Aat	p.D153N	GNB2_ENST00000424361.1_Missense_Mutation_p.D109N|GNB2_ENST00000393924.1_Missense_Mutation_p.D153N|GNB2_ENST00000427895.1_Missense_Mutation_p.D53N|GNB2_ENST00000393926.1_Missense_Mutation_p.D153N|GNB2_ENST00000436220.1_Missense_Mutation_p.D109N|GNB2_ENST00000419828.1_Missense_Mutation_p.D53N	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	153					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCGCTTCCTGGATGACAACCA	0.627													46	42					0	0	0	0	A	100275401	G	A	100275401	3	1	41	1	0	0	0	0	1	0	0	0	6568	1174	41	2	479	2	GNB2	7	100275401	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08		100275401	58863262	21	7832											
CSMD1	64478	broad.mit.edu	37	chr8	3245095	3245095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcacttagtgtgtacccCgggtcacagctgaaagtcac	9	10	10	12	2	3	1	3	1	0	0	4	1	3	1	2	1	2	2	2	1	3	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:3245095C>T	ENST00000520002.1	-	19	3261	c.2706G>A	c.(2704-2706)ccG>ccA	p.P902P	CSMD1_ENST00000602723.1_Silent_p.P902P|CSMD1_ENST00000400186.3_Silent_p.P902P|CSMD1_ENST00000602557.1_Silent_p.P902P|CSMD1_ENST00000542608.1_Silent_p.P901P|CSMD1_ENST00000539096.1_Silent_p.P901P|CSMD1_ENST00000537824.1_Silent_p.P901P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	902	Sushi 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGTGTACCCCGGGTCACAGC	0.607													14	18					0	0	0	0	T	3245095	C	T	3245095	2	4	41	1	0	0	0	0	0	0	0	1	3976	639	23	1		1	CSMD1	8	3245095	Silent	SNP	C	TCGA-BB-4228-01A-01D-1434-08		3245095	143118927	22	7833											
DOCK5	80005	broad.mit.edu	37	chr8	25156591	25156591	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagttgtttatggccctctaCgacccagaccagtccacttt	8	12	8	13	1	1	1	0	0	1	1	2	3	2	1	4	1	1	2	4	1	2	5	rs115024120	byFrequency	TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:25156591C>A	ENST00000276440.7	+	8	782	c.738C>A	c.(736-738)taC>taA	p.Y246*	DOCK5_ENST00000481100.1_Nonsense_Mutation_p.Y246*	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	246						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGGCCCTCTACGACCCAGACC	0.522													3	137					0.014758	0.015908	1	0	A	25156591	C	A	25156591	4	1	41	1	0	0	0	0	0	1	0	0	4726	547	19	3	768	3	DOCK5	8	25156591	Nonsense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08	21911496	25156591	121207431	23	7834											
FZD3	7976	broad.mit.edu	37	chr8	28384970	28384970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgattgatgtcacaagattCcgttatcctgaaaggcctat	11	14	8	8	1	1	4	1	3	0	1	3	4	3	4	3	1	0	1	3	1	4	5			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:28384970C>A	ENST00000240093.3	+	5	1171	c.693C>A	c.(691-693)ttC>ttA	p.F231L	FZD3_ENST00000537916.1_Missense_Mutation_p.F231L	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	231					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TCACAAGATTCCGTTATCCTG	0.353													86	280					5.72486e-32	6.5995e-32	1	0	A	28384970	C	A	28384970	3	1	41	1	0	0	0	0	1	0	0	0	6179	854	30	2	703	2	FZD3	8	28384970	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08	3228379	28384970	117979052	24	7835											
ADAM2	2515	broad.mit.edu	37	chr8	39624556	39624556	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacacattctttcttttgAcataaactgatgggatgagg	11	14	8	8	0	2	3	0	3	2	0	2	4	2	4	1	2	2	0	1	2	3	6			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:39624556A>T	ENST00000265708.4	-	14	1421	c.1318T>A	c.(1318-1320)Tca>Aca	p.S440T	ADAM2_ENST00000347580.4_Missense_Mutation_p.S421T|ADAM2_ENST00000379853.2_Missense_Mutation_p.S314T|ADAM2_ENST00000521880.1_Missense_Mutation_p.S440T	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	440	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTTCTTTTGACATAAACTGA	0.343													331	117					0	0	0	0	T	39624556	A	T	39624556	3	4	41	1	0	0	0	0	1	0	0	0	241	275	10	5	917	5	ADAM2	8	39624556	Missense_Mutation	SNP	A	TCGA-BB-4228-01A-01D-1434-08	11239586	39624556	106739466	25	7836											
RAB2A	5862	broad.mit.edu	37	chr8	61496839	61496839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggagctttactagtttacGatattacacggtgagaactt	12	13	9	7	2	0	1	0	1	0	1	0	4	0	2	0	2	5	2	0	2	6	8			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:61496839G>A	ENST00000262646.7	+	4	610	c.259G>A	c.(259-261)Gat>Aat	p.D87N	RAB2A_ENST00000531289.1_Missense_Mutation_p.D63N|RAB2A_ENST00000529579.1_Missense_Mutation_p.D87N|RAB2A_ENST00000530071.1_3'UTR	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	87					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity	p.D87Y(1)		endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			ACTAGTTTACGATATTACACG	0.378													6	375					0	0	0	0	A	61496839	G	A	61496839	3	1	41	1	0	0	0	0	1	0	0	0	12999	1058	37	1	273	1	RAB2A	8	61496839	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08	21872283	61496839	84867183	26	7837											
PEX2	5828	broad.mit.edu	37	chr8	77896111	77896111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcataccagattttttGatttttactgggtggctgat	10	16	9	6	0	0	3	0	2	0	1	0	3	0	3	1	2	4	2	1	2	3	7			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:77896111G>T	ENST00000419564.2	-	4	768	c.304C>A	c.(304-306)Caa>Aaa	p.Q102K	PEX2_ENST00000520103.1_Missense_Mutation_p.Q102K|PEX2_ENST00000357039.4_Missense_Mutation_p.Q102K|PEX2_ENST00000522527.1_Missense_Mutation_p.Q102K	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	102					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						CAGATTTTTTGATTTTTACTG	0.373													115	57					4.35912e-55	5.24358e-55	1	0	T	77896111	G	T	77896111	3	4	41	1	0	0	0	0	1	0	0	0	11817	1299	45	2	617	2	PEX2	8	77896111	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08	16399272	77896111	68467911	27	7838											
SPAG1	6674	broad.mit.edu	37	chr8	101206583	101206583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctattcgtacagaaattCgtaatctatcagtttttcta	11	19	4	7	2	4	1	1	0	3	1	6	1	4	1	0	0	1	3	0	0	6	10			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:101206583C>T	ENST00000520508.1	+	10	1467	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C	SPAG1_ENST00000520643.1_Missense_Mutation_p.R395C|SPAG1_ENST00000388798.2_Intron|SPAG1_ENST00000251809.3_Intron			Q07617	SPAG1_HUMAN	sperm associated antigen 1	0					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TACAGAAATTCGTAATCTATC	0.328													3	12					0	0	0	0	T	101206583	C	T	101206583	3	4	41	1	0	0	0	0	1	0	0	0	15065	899	31	1		1	SPAG1	8	101206583	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08	23310472	101206583	45157439	28	7839											
ARMC3	219681	broad.mit.edu	37	chr10	23270411	23270411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggcagcaaagattttttCaataatcagggtaagtcaac	15	11	8	7	0	4	1	4	0	0	1	4	1	4	1	0	2	2	3	0	2	5	5	rs146538646		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr10:23270411C>G	ENST00000298032.5	+	9	1143	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	ARMC3_ENST00000409049.3_Missense_Mutation_p.F353L|ARMC3_ENST00000409983.3_Missense_Mutation_p.F353L|ARMC3_ENST00000376528.4_Missense_Mutation_p.F90L	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	353							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAGATTTTTTCAATAATCAGG	0.363													57	62					0	0	0	0	G	23270411	C	G	23270411	3	3	41	1	0	0	0	0	1	0	0	0	956	825	29	2	1089	2	ARMC3	10	23270411	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08		23270411	112264336	29	7840											
AP2A2	161	broad.mit.edu	37	chr11	994108	994108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgcccccattcccggagCgggagtcctccatcttggca	7	8	11	15	2	1	1	0	0	1	1	4	3	4	3	5	3	2	1	5	3	0	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:994108C>T	ENST00000448903.2	+	14	1960	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W	AP2A2_ENST00000332231.5_Missense_Mutation_p.R608W|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	607					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		ATTCCCGGAGCGGGAGTCCTC	0.622													68	111					0	0	0	0	T	994108	C	T	994108	3	4	41	1	0	0	0	0	1	0	0	0	741	759	27	1	1873	1	AP2A2	11	994108	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08		994108	134012408	30	7841											
MUC5B	727897	broad.mit.edu	37	chr11	1263410	1263410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgcccaggacagagaCgacaatgagccccttgacta	13	4	10	14	2	0	3	0	2	0	1	0	6	0	4	3	1	2	1	3	1	2	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:1263410C>T	ENST00000447027.1	+	31	5367	c.5309C>T	c.(5308-5310)aCg>aTg	p.T1770M	MUC5B_ENST00000529681.1_Missense_Mutation_p.T1767M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1767	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGACAGAGACGACAATGAGC	0.617													31	41					0	0	0	0	T	1263410	C	T	1263410	3	4	41	1	0	0	0	0	1	0	0	0	10049	536	19	1	5431	1	MUC5B	11	1263410	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08	269302	1263410	133743106	31	7842											
TMEM86A	144110	broad.mit.edu	37	chr11	18723189	18723189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcagccactggctcttcGgacaggtctggtgatggcag	7	9	14	11	1	2	1	0	1	2	0	3	2	2	2	1	5	2	3	1	5	0	1			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:18723189G>T	ENST00000280734.2	+	3	452	c.356G>T	c.(355-357)cGg>cTg	p.R119L	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	119						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CTGGCTCTTCGGACAGGTCTG	0.612													58	73					2.56585e-57	3.13184e-57	1	0	T	18723189	G	T	18723189	3	4	41	1	0	0	0	0	1	0	0	0	16302	1116	39	3	366	3	TMEM86A	11	18723189	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08	17459779	18723189	116283327	32	7843											
DAGLA	747	broad.mit.edu	37	chr11	61488167	61488167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtttgtgatcctgtccGtggtgctcttcggcctggtc	3	14	13	11	2	1	1	0	1	1	0	5	1	3	1	3	4	1	2	3	4	0	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:61488167G>A	ENST00000257215.5	+	3	228	c.112G>A	c.(112-114)Gtg>Atg	p.V38M		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	38					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GATCCTGTCCGTGGTGCTCTT	0.637													48	60					0	0	0	0	A	61488167	G	A	61488167	3	1	41	1	0	0	0	0	1	0	0	0	4259	1145	40	1	118	1	DAGLA	11	61488167	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08	42764978	61488167	73518349	33	7844											
CATSPER1	117144	broad.mit.edu	37	chr11	65793355	65793355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcaccgtggtggggcaCgccagaggaatagtgggata	10	6	16	9	2	1	1	1	0	0	1	1	3	1	3	3	5	1	1	3	5	3	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:65793355C>T	ENST00000312106.5	-	1	633	c.496G>A	c.(496-498)Gtg>Atg	p.V166M		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	166	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.V166M(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGGTGGGGCACGCCAGAGGAA	0.582													71	75					0	0	0	0	T	65793355	C	T	65793355	3	4	41	1	0	0	0	0	1	0	0	0	2712	536	19	1	1894	1	CATSPER1	11	65793355	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08	4305188	65793355	69213161	34	7845											
PKNOX2	63876	broad.mit.edu	37	chr11	125301145	125301145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctatgatggctgcacacGatgactcattggatgggaca	11	9	13	8	1	1	2	1	2	0	0	1	5	1	4	0	4	1	3	0	4	1	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:125301145G>A	ENST00000298282.9	+	13	1547	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	PKNOX2_ENST00000542175.1_Missense_Mutation_p.D362N|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	426	Asp/Glu-rich (acidic).					nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GGCTGCACACGATGACTCATT	0.552													18	29					0	0	0	0	A	125301145	G	A	125301145	3	1	41	1	0	0	0	0	1	0	0	0	12055	1058	37	1	1314	1	PKNOX2	11	125301145	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08	59507790	125301145	9705371	35	7846											
KCNJ1	3758	broad.mit.edu	37	chr11	128709588	128709588	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcaaagcttccctcccCgtttgctgatcactgcgttc	6	11	10	14	2	1	1	1	1	0	0	4	2	3	2	3	2	3	5	3	2	1	3			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:128709588C>A	ENST00000392665.2	-	2	695	c.551G>T	c.(550-552)cGg>cTg	p.R184L	KCNJ1_ENST00000324036.3_Missense_Mutation_p.R184L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.R184L|KCNJ1_ENST00000392664.2_Missense_Mutation_p.R203L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.R184L	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	203					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	p.R203Q(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CTTCCCTCCCCGTTTGCTGAT	0.478													4	194					0.150653	0.158281	1	0	A	128709588	C	A	128709588	3	1	41	1	0	0	0	0	1	0	0	0	8096	652	23	3	571	3	KCNJ1	11	128709588	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08	3408443	128709588	6296928	36	7847											
MAP3K12	7786	broad.mit.edu	37	chr12	53877172	53877172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttctgtggcacattcctcTtcttgataagcttctccatt	6	17	6	12	0	4	1	0	1	4	0	6	1	5	1	2	1	1	3	2	1	1	7	rs140537763		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr12:53877172T>C	ENST00000267079.2	-	11	1700	c.1475A>G	c.(1474-1476)aAg>aGg	p.K492R	MAP3K12_ENST00000547488.1_Missense_Mutation_p.K525R|MAP3K12_ENST00000547035.1_Missense_Mutation_p.K525R	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	492					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CACATTCCTCTTCTTGATAAG	0.532													127	162					0	0	0	0	C	53877172	T	C	53877172	3	2	41	1	0	0	0	0	1	0	0	0	9315	1609	56	5	1124	5	MAP3K12	12	53877172	Missense_Mutation	SNP	T	TCGA-BB-4228-01A-01D-1434-08		53877172	79974723	37	7848											
DHX37	57647	broad.mit.edu	37	chr12	125432580	125432580	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagcacaaagcccctgcctCagtgaccccatcctgtctac	11	7	6	17	0	2	1	1	1	1	0	3	1	3	1	6	0	4	1	6	0	3	1			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr12:125432580C>T	ENST00000544745.1	-	23	2908	c.2799G>A	c.(2797-2799)ctG>ctA	p.L933L	DHX37_ENST00000308736.2_Intron			Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	0							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCCCCTGCCTCAGTGACCCCA	0.597													5	86					0	0	0	0	T	125432580	C	T	125432580	2	4	41	1	0	0	0	0	0	0	0	1	4547	841	29	2		2	DHX37	12	125432580	Silent	SNP	C	TCGA-BB-4228-01A-01D-1434-08	71555408	125432580	8419315	38	7849											
ACTN1	87	broad.mit.edu	37	chr14	69349260	69349260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcattgtgctgctgtcggGcatgctcctccgtcagagct	4	13	11	13	2	2	1	2	0	1	1	6	1	4	1	2	1	4	5	2	1	0	1			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr14:69349260G>A	ENST00000193403.6	-	16	2251	c.1868C>T	c.(1867-1869)gCc>gTc	p.A623V	ACTN1_ENST00000394419.4_Missense_Mutation_p.A623V|ACTN1_ENST00000438964.2_Missense_Mutation_p.A623V|ACTN1_ENST00000376839.3_Missense_Mutation_p.A558V|ACTN1_ENST00000538545.2_Missense_Mutation_p.A623V	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	623	Interaction with DDN.				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	p.A623V(1)		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)		CTGCTGTCGGGCATGCTCCTC	0.612													5	129					0	0	0	0	A	69349260	G	A	69349260	3	1	41	1	0	0	0	0	1	0	0	0	204	1203	42	4	904	4	ACTN1	14	69349260	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08		69349260	38000280	39	7850											
TRAF3	7187	broad.mit.edu	37	chr14	103363706	103363706	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagacaaaaggaaatgcttCgaaataatgaatccaaaatc	21	7	7	6	1	0	2	0	1	0	1	3	5	1	3	1	1	1	1	1	1	8	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr14:103363706C>T	ENST00000560371.1	+	9	1145	c.928C>T	c.(928-930)Cga>Tga	p.R310*	TRAF3_ENST00000539721.1_Nonsense_Mutation_p.R227*|TRAF3_ENST00000351691.5_Nonsense_Mutation_p.R285*|TRAF3_ENST00000347662.4_Nonsense_Mutation_p.R285*|TRAF3_ENST00000392745.2_Nonsense_Mutation_p.R310*	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	310					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.R310*(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GGAAATGCTTCGAAATAATGA	0.378													27	7					0	0	0	0	T	103363706	C	T	103363706	4	4	41	1	0	0	0	0	0	1	0	0	16534	876	31	1	958	1	TRAF3	14	103363706	Nonsense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08	34014446	103363706	3985834	40	7851											
ZFYVE19	84936	broad.mit.edu	37	chr15	41102895	41102895	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcccagcagacacaggatCtgctaacgcagctggcagct	12	5	11	13	1	1	1	0	0	1	1	1	2	1	2	1	2	6	6	1	2	2	1			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr15:41102895C>T	ENST00000355341.4	+	6	1267	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	ZFYVE19_ENST00000564258.1_Silent_p.L81L|ZFYVE19_ENST00000570108.1_Silent_p.L233L|ZFYVE19_ENST00000336455.5_Silent_p.L246L|ZFYVE19_ENST00000299173.10_Silent_p.L256L	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	256							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GACACAGGATCTGCTAACGCA	0.592													2	8					0	0	0	0	T	41102895	C	T	41102895	2	4	41	1	0	0	0	0	0	0	0	1	17760	912	32	2		2	ZFYVE19	15	41102895	Silent	SNP	C	TCGA-BB-4228-01A-01D-1434-08		41102895	61428497	41	7852											
ADAL	161823	broad.mit.edu	37	chr15	43641114	43641114	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttctttagattccaaacCaaaaaaaagaaacacaaata	21	9	2	9	0	1	2	0	0	1	2	2	2	2	2	3	0	2	0	3	0	9	5			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr15:43641114C>T	ENST00000422466.2	+	11	1217	c.643C>T	c.(643-645)Caa>Taa	p.Q215*	ADAL_ENST00000389651.4_Nonsense_Mutation_p.Q215*|ADAL_ENST00000428046.3_Nonsense_Mutation_p.Q188*|ADAL_ENST00000562188.1_Nonsense_Mutation_p.Q215*			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	215					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GATTCCAAACCAAAAAAAAGA	0.453													36	61					0	0	0	0	T	43641114	C	T	43641114	4	4	41	1	0	0	0	0	0	1	0	0	233	595	21	4	673	4	ADAL	15	43641114	Nonsense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08	2538219	43641114	58890278	42	7853											
ARNT2	9915	broad.mit.edu	37	chr15	80845046	80845046	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccacagagttcttatcccgGcataactccgatggaatcat	11	10	7	13	2	2	1	1	0	1	1	4	3	4	2	3	2	1	2	3	2	3	3			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr15:80845046G>A	ENST00000533983.1	+	11	1326	c.987G>A	c.(985-987)cgG>cgA	p.R329R	ARNT2_ENST00000527771.1_Silent_p.R329R|ARNT2_ENST00000303329.4_Silent_p.R340R			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	340	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TCTTATCCCGGCATAACTCCG	0.483													5	210					0	0	0	0	A	80845046	G	A	80845046	2	1	41	1	0	0	0	0	0	0	0	1	970	1190	42	4		4	ARNT2	15	80845046	Silent	SNP	G	TCGA-BB-4228-01A-01D-1434-08	37203932	80845046	21686346	43	7854											
ITGAL	3683	broad.mit.edu	37	chr16	30522385	30522385	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcagtaacaatgaggactCagacctcctggaggacaact	14	7	10	10	0	1	2	1	1	0	1	2	5	2	5	2	3	3	2	2	3	3	1			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr16:30522385C>G	ENST00000356798.6	+	24	2894	c.2714C>G	c.(2713-2715)tCa>tGa	p.S905*	ITGAL_ENST00000433423.2_Nonsense_Mutation_p.S139*|ITGAL_ENST00000358164.5_Nonsense_Mutation_p.S821*	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	905					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AATGAGGACTCAGACCTCCTG	0.567													53	72					0	0	0	0	G	30522385	C	G	30522385	4	3	41	1	0	0	0	0	0	1	0	0	7939	838	29	2	2808	2	ITGAL	16	30522385	Nonsense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08		30522385	59832368	44	7855											
ITGAL	3683	broad.mit.edu	37	chr16	30525152	30525152	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccccaagatccaccaagtCaagcacatgtaccaggtatg	13	6	9	13	0	1	1	1	0	0	1	2	1	2	1	5	2	2	3	5	2	5	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr16:30525152C>T	ENST00000356798.6	+	25	3027	c.2847C>T	c.(2845-2847)gtC>gtT	p.V949V	ITGAL_ENST00000433423.2_Silent_p.V183V|ITGAL_ENST00000358164.5_Silent_p.V865V	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	949					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TCCACCAAGTCAAGCACATGT	0.507													57	74					0	0	0	0	T	30525152	C	T	30525152	2	4	41	1	0	0	0	0	0	0	0	1	7939	813	29	2		2	ITGAL	16	30525152	Silent	SNP	C	TCGA-BB-4228-01A-01D-1434-08	2767	30525152	59829601	45	7856											
NUP93	9688	broad.mit.edu	37	chr16	56872869	56872869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgtctttcaggtataGggctcaaggaataagcgcaa	11	13	11	6	1	3	0	2	0	1	0	3	1	3	1	0	3	1	4	0	3	6	6			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr16:56872869G>T	ENST00000564887.1	+	17	2284	c.1655G>T	c.(1654-1656)aGg>aTg	p.R552M	NUP93_ENST00000542526.1_Missense_Mutation_p.R552M|NUP93_ENST00000308159.5_Missense_Mutation_p.R675M|NUP93_ENST00000569842.1_Missense_Mutation_p.R675M	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	675					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTCAGGTATAGGGCTCAAGGA	0.393													4	186					0.00909568	0.00993344	1	0	T	56872869	G	T	56872869	3	4	41	1	0	0	0	0	1	0	0	0	10843	1000	35	4	2094	4	NUP93	16	56872869	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08	26347717	56872869	33481884	46	7857											
EFCAB5	374786	broad.mit.edu	37	chr17	28417554	28417554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaggctctgggagtcctcGattttaacatcggccaaaat	11	10	11	9	2	1	1	0	0	1	1	4	4	2	2	2	3	1	1	2	3	3	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr17:28417554G>A	ENST00000394835.3	+	20	3991	c.3799G>A	c.(3799-3801)Gat>Aat	p.D1267N	RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.D1143N	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1267							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGGAGTCCTCGATTTTAACAT	0.428													90	109					0	0	0	0	A	28417554	G	A	28417554	3	1	41	1	0	0	0	0	1	0	0	0	4974	1058	37	1	4044	1	EFCAB5	17	28417554	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08		28417554	52777656	47	7858											
CCDC40	55036	broad.mit.edu	37	chr17	78013852	78013852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaatcagtgctgcagataCgacttacccgtatttcagtc	11	11	8	11	2	2	1	2	0	0	1	3	2	2	1	1	0	4	4	1	0	4	4			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr17:78013852C>T	ENST00000397545.4	+	3	362	c.335C>T	c.(334-336)aCg>aTg	p.T112M	CCDC40_ENST00000374877.3_Missense_Mutation_p.T112M|CCDC40_ENST00000374876.4_Missense_Mutation_p.T112M|CCDC40_ENST00000269318.5_Missense_Mutation_p.T112M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	112					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTGCAGATACGACTTACCCG	0.527													89	115					0	0	0	0	T	78013852	C	T	78013852	3	4	41	1	0	0	0	0	1	0	0	0	2838	536	19	1	345	1	CCDC40	17	78013852	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08	49596298	78013852	3181358	48	7859											
ASPSCR1	79058	broad.mit.edu	37	chr17	79966949	79966949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgtggaccgggagccggtgGtgtgccaccccgacctggag	5	5	17	14	4	0	0	0	0	0	0	0	4	0	3	7	5	2	0	7	5	0	0			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr17:79966949G>T	ENST00000306729.7	+	8	1067	c.970G>T	c.(970-972)Gtg>Ttg	p.V324L	ASPSCR1_ENST00000306739.4_Missense_Mutation_p.V324L|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.V247L	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	324	Interaction with GLUT4 (By similarity).						protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGAGCCGGTGGTGTGCCACCC	0.721			T	TFE3	alveolar soft part sarcoma								10	3					3.07112e-06	3.44463e-06	1	0	T	79966949	G	T	79966949	3	4	41	1	0	0	0	0	1	0	0	0	1063	1261	44	4	1000	4	ASPSCR1	17	79966949	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08	1953097	79966949	1228261	49	7860											
AES	166	broad.mit.edu	37	chr19	3054133	3054133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catactcggatgatagagttCagctcgggagcggtgacctg	9	9	14	9	3	1	3	1	2	0	1	3	5	1	5	1	3	3	2	1	3	2	3			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr19:3054133C>T	ENST00000221561.8	-	6	737	c.558G>A	c.(556-558)ctG>ctA	p.L186L	AES_ENST00000592330.1_Intron|AES_ENST00000586839.1_Silent_p.L63L|AES_ENST00000327141.4_Silent_p.L119L	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	119	CCN domain.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		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)		TGATAGAGTTCAGCTCGGGAG	0.657													14	17					0	0	0	0	T	3054133	C	T	3054133	2	4	41	1	0	0	0	0	0	0	0	1	352	813	29	2		2	AES	19	3054133	Silent	SNP	C	TCGA-BB-4228-01A-01D-1434-08		3054133	56074850	50	7861											
ACER1	125981	broad.mit.edu	37	chr19	6309770	6309770	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctgttgagggcgtaggcGttgaccgtgggccgcaggaa	7	8	18	8	4	0	2	0	2	0	0	0	3	0	3	2	4	1	5	2	4	2	3			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr19:6309770G>A	ENST00000301452.4	-	4	503	c.426C>T	c.(424-426)aaC>aaT	p.N142N		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	142						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGGCGTAGGCGTTGACCGTGG	0.607													81	109					0	0	0	0	A	6309770	G	A	6309770	2	1	41	1	0	0	0	0	0	0	0	1	138	1136	40	1		1	ACER1	19	6309770	Silent	SNP	G	TCGA-BB-4228-01A-01D-1434-08	3255637	6309770	52819213	51	7862											
DMWD	1762	broad.mit.edu	37	chr19	46289911	46289911	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggggcccctcacccacCgcccacttggccagcgggtt	5	7	12	17	2	1	1	1	1	0	0	1	1	1	1	6	4	1	1	6	4	0	3			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr19:46289911C>T	ENST00000270223.6	-	3	888	c.843G>A	c.(841-843)gcG>gcA	p.A281A	DMWD_ENST00000377735.3_Silent_p.A281A	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	281					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CCTCACCCACCGCCCACTTGG	0.677													41	54					0	0	0	0	T	46289911	C	T	46289911	2	4	41	1	0	0	0	0	0	0	0	1	4630	639	23	1		1	DMWD	19	46289911	Silent	SNP	C	TCGA-BB-4228-01A-01D-1434-08	39980141	46289911	12839072	52	7863											
CCDC114	93233	broad.mit.edu	37	chr19	48800379	48800379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaccaccctctgtgttttCtccgcccctgctggacccca	5	10	6	20	1	2	0	0	0	2	0	3	1	2	1	7	1	1	2	7	1	0	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr19:48800379C>T	ENST00000315396.7	-	14	2549	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	623	Ser-rich.									cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TCTGTGTTTTCTCCGCCCCTG	0.667													5	234					0	0	0	0	T	48800379	C	T	48800379	3	4	41	1	0	0	0	0	1	0	0	0	2776	922	32	2	149	2	CCDC114	19	48800379	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08	2510468	48800379	10328604	53	7864											
ZIM2	23619	broad.mit.edu	37	chr19	57286109	57286109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatggagttgataatgttGagtgaggtatgagggtcggc	11	11	17	2	1	0	5	0	4	0	1	1	6	0	6	0	4	0	3	0	4	3	4			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr19:57286109G>T	ENST00000391708.3	-	12	2073	c.1531C>A	c.(1531-1533)Caa>Aaa	p.Q511K	ZIM2_ENST00000593711.1_Missense_Mutation_p.Q511K|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.Q511K|ZIM2_ENST00000599935.1_Missense_Mutation_p.Q511K|ZIM2_ENST00000221722.5_Missense_Mutation_p.Q511K	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TGATAATGTTGAGTGAGGTAT	0.423													64	66					4.83677e-39	5.65426e-39	1	0	T	57286109	G	T	57286109	3	4	41	1	0	0	0	0	1	0	0	0	17779	1299	45	2	56	2	ZIM2	19	57286109	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08	8485730	57286109	1842874	54	7865											
STK35	140901	broad.mit.edu	37	chr20	2097996	2097996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctttgaacttgaaaccaGaatggaccaggtcacatgtg	12	10	10	9	0	1	3	1	2	0	1	1	4	1	4	3	2	3	0	3	2	3	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr20:2097996G>A	ENST00000381482.3	+	3	1848	c.1577G>A	c.(1576-1578)aGa>aAa	p.R526K	STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Missense_Mutation_p.R393K			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	526	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CTTGAAACCAGAATGGACCAG	0.438													65	10					0	0	0	0	A	2097996	G	A	2097996	3	1	41	1	0	0	0	0	1	0	0	0	15391	942	33	2	1587	2	STK35	20	2097996	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08		2097996	60927524	55	7866											
RIPK4	54101	broad.mit.edu	37	chr21	43161351	43161351	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcggtgtagccgtctgAggtcatggcctccttgccag	6	9	14	12	2	2	2	1	1	1	1	3	2	3	2	4	3	3	1	4	3	1	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr21:43161351A>G	ENST00000352483.2	-	9	2210	c.2146T>C	c.(2146-2148)Tca>Cca	p.S716P	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.S668P|RIPK4_ENST00000544709.1_Missense_Mutation_p.S605P|RIPK4_ENST00000542057.1_Missense_Mutation_p.S605P			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	668						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						TAGCCGTCTGAGGTCATGGCC	0.687													82	78					0	0	0	0	G	43161351	A	G	43161351	3	3	41	1	0	0	0	0	1	0	0	0	13468	304	11	5	356	5	RIPK4	21	43161351	Missense_Mutation	SNP	A	TCGA-BB-4228-01A-01D-1434-08		43161351	4968544	56	7867											
ABCG1	9619	broad.mit.edu	37	chr21	43704767	43704767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccatccaccagcccagcGccaaactcttcgagctgttc	9	7	7	18	2	1	0	0	0	1	0	4	1	2	0	5	0	4	3	5	0	1	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr21:43704767G>A	ENST00000398437.1	+	8	1418	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T	ABCG1_ENST00000398457.2_Missense_Mutation_p.A280T|ABCG1_ENST00000343687.3_Missense_Mutation_p.A289T|ABCG1_ENST00000347800.2_Missense_Mutation_p.A275T|ABCG1_ENST00000398449.3_Missense_Mutation_p.A278T|ABCG1_ENST00000340588.4_Missense_Mutation_p.A386T|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000361802.2_Missense_Mutation_p.A278T			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	278	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCAGCCCAGCGCCAAACTCTT	0.637													7	209					0	0	0	0	A	43704767	G	A	43704767	3	1	41	1	0	0	0	0	1	0	0	0	68	1087	38	1	1026	1	ABCG1	21	43704767	Missense_Mutation	SNP	G	TCGA-BB-4228-01A-01D-1434-08	543416	43704767	4425128	57	7868											
AP1B1	162	broad.mit.edu	37	chr22	29747175	29747175	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctccaccttgatggcGcagcggccaatagcacgcac	9	6	9	17	3	1	1	1	1	0	0	2	1	2	1	4	2	2	3	4	2	2	2			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr22:29747175G>A	ENST00000357586.2	-	9	1326	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	AP1B1_ENST00000402502.1_Silent_p.C380C|AP1B1_ENST00000432560.2_Silent_p.C380C|AP1B1_ENST00000415447.1_Silent_p.C380C|AP1B1_ENST00000317368.7_Silent_p.C380C|AP1B1_ENST00000405198.1_Silent_p.C380C|AP1B1_ENST00000356015.2_Silent_p.C380C	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	380					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCTTGATGGCGCAGCGGCCAA	0.547													13	482					0	0	0	0	A	29747175	G	A	29747175	2	1	41	1	0	0	0	0	0	0	0	1	732	1079	38	1		1	AP1B1	22	29747175	Silent	SNP	G	TCGA-BB-4228-01A-01D-1434-08		29747175	21557391	58	7869											
RENBP	5973	broad.mit.edu	37	chrX	153209359	153209359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacctacctgcttttgctgCgtccagaagctgagcatggc	7	10	11	13	1	0	2	0	1	0	1	1	2	1	2	3	1	6	5	3	1	2	3			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chrX:153209359C>T	ENST00000393700.3	-	4	357	c.277G>A	c.(277-279)Gca>Aca	p.A93T	RENBP_ENST00000369997.3_Missense_Mutation_p.A79T|RENBP_ENST00000412763.1_Missense_Mutation_p.A93T	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	93					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GCTTTTGCTGCGTCCAGAAGC	0.577													6	0					0	0	0	0	T	153209359	C	T	153209359	3	4	41	1	0	0	0	0	1	0	0	0	13307	768	27	1	1038	1	RENBP	23	153209359	Missense_Mutation	SNP	C	TCGA-BB-4228-01A-01D-1434-08		153209359	2061201	59	7870											
BARHL2	343472	broad.mit.edu	37	chr1	91182216	91182216	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttggcctgaagctctcGtgcactgcgttgctctcctg	4	13	11	13	2	2	1	0	1	2	0	4	1	2	1	2	1	5	5	2	1	1	2			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr1:91182216G>A	ENST00000370445.4	-	1	578	c.537C>T	c.(535-537)caC>caT	p.H179H		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	179						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TGAAGCTCTCGTGCACTGCGT	0.602													3	15					0	0	0	0	A	91182216	G	A	91182216	2	1	42	1	0	0	0	0	0	0	0	1	1318	1136	40	1		1	BARHL2	1	91182216	Silent	SNP	G	TCGA-BB-7861-01A-11D-2229-08		91182216	158068405	1	7871											
KIF21B	23046	broad.mit.edu	37	chr1	200965403	200965403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgactggttcttaagcagcCgggcgtgctctttctgggcg	4	11	15	11	4	3	0	0	0	3	0	3	1	3	0	1	3	3	3	1	3	1	3			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr1:200965403C>T	ENST00000332129.2	-	15	2514	c.2198G>A	c.(2197-2199)cGg>cAg	p.R733Q	KIF21B_ENST00000360529.5_Missense_Mutation_p.R733Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R733Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.R733Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	733					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTTAAGCAGCCGGGCGTGCTC	0.602													30	241					0	0	0	0	T	200965403	C	T	200965403	3	4	42	1	0	0	0	0	1	0	0	0	8340	652	23	1	2756	1	KIF21B	1	200965403	Missense_Mutation	SNP	C	TCGA-BB-7861-01A-11D-2229-08	109783187	200965403	48285218	2	7872											
ADRA2B	151	broad.mit.edu	37	chr2	96780975	96780977	+	In_Frame_Del	DEL	TCC	TCC	-																															ctgcctggggttcacactctTcctcctcctcctcctcctct																								rs71989981		TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr2:96780975_96780977delTCC	ENST00000409345.3	-	1	1007_1009	c.912_914delGGA	c.(910-915)gaa>ga	p.EE304del		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	307	Asp/Glu-rich (acidic).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TTCACActcttcctcctcctcct	0.655													2	4	---	---	---	---					-	96780977	TCC	-	96780975	7	5	42	1	0	1	0	1	0	0	0	0	338	1783	62	0	433	0	ADRA2B	2	96780975	In_Frame_Del	DEL	TCC	TCGA-BB-7861-01A-11D-2229-08		96780975	146418398	3	7873											
TOP2B	7155	broad.mit.edu	37	chr3	25668285	25668285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtaagccatgtagcctaCgctgtctccggtcttccata	7	12	9	13	2	2	0	0	0	2	0	4	0	3	0	4	2	3	3	4	2	4	5			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr3:25668285C>T	ENST00000435706.2	-	17	2273	c.2072G>A	c.(2071-2073)cGt>cAt	p.R691H	TOP2B_ENST00000264331.4_Missense_Mutation_p.R696H			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	696					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						ATGTAGCCTACGCTGTCTCCG	0.393													3	14					0	0	0	0	T	25668285	C	T	25668285	3	4	42	1	0	0	0	0	1	0	0	0	16461	536	19	1	2873	1	TOP2B	3	25668285	Missense_Mutation	SNP	C	TCGA-BB-7861-01A-11D-2229-08		25668285	172354145	4	7874											
LPHN3	23284	broad.mit.edu	37	chr4	62599101	62599101	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaataagattgactacAtttacaacactgaccaaagc	17	9	6	9	0	0	3	0	2	0	1	0	4	0	4	1	1	4	0	1	1	6	5			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr4:62599101A>G	ENST00000512091.1	+	7	1771	c.1024A>G	c.(1024-1026)Att>Gtt	p.I342V	LPHN3_ENST00000504896.1_Missense_Mutation_p.I342V|LPHN3_ENST00000508693.1_Missense_Mutation_p.I410V|LPHN3_ENST00000507625.1_Missense_Mutation_p.I410V|LPHN3_ENST00000545650.1_Missense_Mutation_p.I342V|LPHN3_ENST00000514996.1_Missense_Mutation_p.I342V|LPHN3_ENST00000506720.1_Missense_Mutation_p.I410V|LPHN3_ENST00000514157.1_Missense_Mutation_p.I342V|LPHN3_ENST00000508946.1_Missense_Mutation_p.I342V|LPHN3_ENST00000506700.1_Missense_Mutation_p.I342V|LPHN3_ENST00000511324.1_Missense_Mutation_p.I410V|LPHN3_ENST00000507164.1_Missense_Mutation_p.I410V|LPHN3_ENST00000506746.1_Missense_Mutation_p.I410V|LPHN3_ENST00000514591.1_Missense_Mutation_p.I342V|LPHN3_ENST00000509896.1_Missense_Mutation_p.I410V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	342	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATTGACTACATTTACAACAC	0.408													11	22					0	0	0	0	G	62599101	A	G	62599101	3	3	42	1	0	0	0	0	1	0	0	0	8981	217	8	5	1042	5	LPHN3	4	62599101	Missense_Mutation	SNP	A	TCGA-BB-7861-01A-11D-2229-08		62599101	128555175	5	7875											
FBN2	2201	broad.mit.edu	37	chr5	127744375	127744375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgaggcttaccgatgcatCgagagccatctgttgaggtt	8	11	13	9	3	1	2	0	1	1	1	2	5	1	2	2	2	4	4	2	2	1	3			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr5:127744375C>T	ENST00000508053.1	-	14	2044	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	FBN2_ENST00000262464.4_Missense_Mutation_p.R357Q|FBN2_ENST00000508989.1_Missense_Mutation_p.R324Q			P35556	FBN2_HUMAN	fibrillin 2	357	EGF-like 5; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACCGATGCATCGAGAGCCATC	0.418													15	61					0	0	0	0	T	127744375	C	T	127744375	3	4	42	1	0	0	0	0	1	0	0	0	5748	884	31	1	7900	1	FBN2	5	127744375	Missense_Mutation	SNP	C	TCGA-BB-7861-01A-11D-2229-08		127744375	53170885	6	7876											
GABBR1	2550	broad.mit.edu	37	chr6	29599320	29599320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatagccttcacctggtcccGagtcaggccccggtacctga	7	8	11	15	2	2	1	2	1	0	0	3	3	3	1	6	3	2	1	6	3	2	3			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr6:29599320G>A	ENST00000377034.4	-	3	477	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	GABBR1_ENST00000376977.3_Missense_Mutation_p.R48W|GABBR1_ENST00000377016.4_Missense_Mutation_p.R48W	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	48	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	ACCTGGTCCCGAGTCAGGCCC	0.612													33	167					0	0	0	0	A	29599320	G	A	29599320	3	1	42	1	0	0	0	0	1	0	0	0	6203	1057	37	1	2972	1	GABBR1	6	29599320	Missense_Mutation	SNP	G	TCGA-BB-7861-01A-11D-2229-08		29599320	141515747	7	7877											
CROT	54677	broad.mit.edu	37	chr7	86978395	86978395	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttatcatggaaaatcAattggctaaatcaactgaag	16	13	7	5	0	3	2	3	2	0	0	3	3	3	3	0	2	1	1	0	2	8	4			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr7:86978395A>G	ENST00000331536.3	+	3	196	c.11A>G	c.(10-12)cAa>cGa	p.Q4R	CROT_ENST00000442291.1_Missense_Mutation_p.Q4R|CROT_ENST00000412227.2_Missense_Mutation_p.Q4R|CROT_ENST00000419147.2_Missense_Mutation_p.Q4R	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	4					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ATGGAAAATCAATTGGCTAAA	0.353													7	33					0	0	0	0	G	86978395	A	G	86978395	3	3	42	1	0	0	0	0	1	0	0	0	3924	130	5	5	13	5	CROT	7	86978395	Missense_Mutation	SNP	A	TCGA-BB-7861-01A-11D-2229-08		86978395	72160268	8	7878											
FABP4	2167	broad.mit.edu	37	chr8	82391122	82391122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctctctcataaactctcGtggaagtgacgcctttcatg	9	13	8	11	2	4	1	2	1	2	0	6	2	4	2	1	1	2	1	1	1	3	2			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr8:82391122G>A	ENST00000256104.4	-	4	472	c.377C>T	c.(376-378)aCg>aTg	p.T126M	FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	126					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			ATAAACTCTCGTGGAAGTGAC	0.388													39	49					0	0	0	0	A	82391122	G	A	82391122	3	1	42	1	0	0	0	0	1	0	0	0	5400	1145	40	1	25	1	FABP4	8	82391122	Missense_Mutation	SNP	G	TCGA-BB-7861-01A-11D-2229-08		82391122	63972900	9	7879											
NUP214	8021	broad.mit.edu	37	chr9	134021562	134021562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttagtagctcccagagcGcacccccgatgtcgccattc	7	9	9	16	3	0	1	0	0	0	1	3	2	1	1	4	0	2	4	4	0	2	3			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr9:134021562G>A	ENST00000359428.5	+	13	1960	c.1816G>A	c.(1816-1818)Gca>Aca	p.A606T	RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.A606T|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.A595T			P35658	NU214_HUMAN	nucleoporin 214kDa	606	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTCCCAGAGCGCACCCCCGAT	0.547			T	"DEK, SET, ABL1"	"AML, T-ALL"								6	421					0	0	0	0	A	134021562	G	A	134021562	3	1	42	1	0	0	0	0	1	0	0	0	10833	1087	38	1	1866	1	NUP214	9	134021562	Missense_Mutation	SNP	G	TCGA-BB-7861-01A-11D-2229-08		134021562	7191869	10	7880											
SGMS1	259230	broad.mit.edu	37	chr10	52103821	52103821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtattctggcatagcattCtccagcagccagtctgccac	9	10	8	14	0	3	0	0	0	3	0	4	0	3	0	3	1	4	4	3	1	2	4			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr10:52103821C>T	ENST00000361781.2	-	7	1013	c.54G>A	c.(52-54)gaG>gaA	p.E18E	SGMS1_ENST00000361543.2_Silent_p.E18E|SGMS1_ENST00000429490.1_Intron	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	24	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCATAGCATTCTCCAGCAGCC	0.522													18	62					0	0	0	0	T	52103821	C	T	52103821	2	4	42	1	0	0	0	0	0	0	0	1	14301	912	32	2		2	SGMS1	10	52103821	Silent	SNP	C	TCGA-BB-7861-01A-11D-2229-08		52103821	83430926	11	7881											
SSH3	54961	broad.mit.edu	37	chr11	67079350	67079350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgacagtggagaggagggcGaggcctgagccctcacacat	11	5	15	10	1	1	3	1	2	0	1	1	6	1	4	2	4	1	0	2	4	0	0	rs78494651	by1000genomes	TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr11:67079350G>A	ENST00000308127.4	+	14	2150	c.1972G>A	c.(1972-1974)Gag>Aag	p.E658K	SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.E393K	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	658					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGAGGAGGGCGAGGCCTGAGC	0.627													15	64					0	0	0	0	A	67079350	G	A	67079350	3	1	42	1	0	0	0	0	1	0	0	0	15276	1059	37	1	2026	1	SSH3	11	67079350	Missense_Mutation	SNP	G	TCGA-BB-7861-01A-11D-2229-08		67079350	67927166	12	7882											
PGM2L1	283209	broad.mit.edu	37	chr11	74058232	74058232	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatttggacatttaacGgtagaaaagtctggatcagg	13	11	12	5	1	3	1	2	0	1	1	3	4	3	4	0	5	1	1	0	5	4	4			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr11:74058232G>A	ENST00000298198.4	-	7	1211	c.900C>T	c.(898-900)acC>acT	p.T300T		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	300					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					GACATTTAACGGTAGAAAAGT	0.343													10	46					0	0	0	0	A	74058232	G	A	74058232	2	1	42	1	0	0	0	0	0	0	0	1	11871	1103	39	1		1	PGM2L1	11	74058232	Silent	SNP	G	TCGA-BB-7861-01A-11D-2229-08	6978882	74058232	60948284	13	7883											
CSAD	51380	broad.mit.edu	37	chr12	53553493	53553493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaacacacattgacaaactCaggctgagaggaatgagaaa	19	5	10	7	0	1	3	1	3	0	2	1	7	1	4	0	2	2	1	0	2	4	1			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr12:53553493C>T	ENST00000267085.4	-	16	1536	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	CSAD_ENST00000444623.1_Missense_Mutation_p.E408K|CSAD_ENST00000453446.2_Missense_Mutation_p.E408K|CSAD_ENST00000379843.3_Missense_Mutation_p.E261K|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000379846.1_Missense_Mutation_p.E261K	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	408					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TTGACAAACTCAGGCTGAGAG	0.562											OREG0021859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4					0	0	0	0	T	53553493	C	T	53553493	3	4	42	1	0	0	0	0	1	0	0	0	3955	835	29	2	267	2	CSAD	12	53553493	Missense_Mutation	SNP	C	TCGA-BB-7861-01A-11D-2229-08		53553493	80298402	14	7884											
RPL6	6128	broad.mit.edu	37	chr12	112844148	112844149	+	Splice_Site	DEL	TG	TG	-																															gcttcaggaaaaccaccctcTgtaagttaaaaagaaaataa																										TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr12:112844148_112844149delTG	ENST00000424576.2	-	5	666		c.e5-2		RPL6_ENST00000202773.9_Splice_Site	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6						endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						AACCACCCTCTGTAAGTTAAAA	0.327													9	46	---	---	---	---					-	112844149	TG	-	112844148	8	5	42	1	0	1	0	1	0	0	1	0	13683	1594	55	0	399	0	RPL6	12	112844148	Splice_Site	DEL	TG	TCGA-BB-7861-01A-11D-2229-08	59290655	112844148	21007747	15	7885											
BUB1B	701	broad.mit.edu	37	chr15	40501931	40501931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagagttgtgtatagaaGacagaccaatgcctaagttg	13	10	11	7	0	0	4	0	0	0	4	0	4	0	4	2	0	2	4	2	0	5	5			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr15:40501931G>A	ENST00000287598.6	+	17	2434	c.2239G>A	c.(2239-2241)Gac>Aac	p.D747N	BUB1B_ENST00000412359.3_Missense_Mutation_p.D761N	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	747					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTGTATAGAAGACAGACCAAT	0.423			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				24	95					0	0	0	0	A	40501931	G	A	40501931	3	1	42	1	0	0	0	0	1	0	0	0	1580	942	33	2	2305	2	BUB1B	15	40501931	Missense_Mutation	SNP	G	TCGA-BB-7861-01A-11D-2229-08		40501931	62029461	16	7886											
IQGAP1	8826	broad.mit.edu	37	chr15	90984759	90984759	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgctgctgttattgctaTtaatgaagctattgaccgta	11	15	8	7	1	0	2	0	2	0	0	0	2	0	2	1	0	4	6	1	0	6	7			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr15:90984759T>A	ENST00000268182.5	+	8	795	c.671T>A	c.(670-672)aTt>aAt	p.I224N	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	224					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTATTGCTATTAATGAAGCT	0.353													13	34					0	0	0	0	A	90984759	T	A	90984759	3	1	42	1	0	0	0	0	1	0	0	0	7867	1493	52	5	701	5	IQGAP1	15	90984759	Missense_Mutation	SNP	T	TCGA-BB-7861-01A-11D-2229-08	50482828	90984759	11546633	17	7887											
SSTR5	6755	broad.mit.edu	37	chr16	1129503	1129503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgctgggcttcttcgCgccgctgctggtcatctgcc	1	11	14	15	4	3	0	1	0	2	0	4	0	3	0	3	3	3	4	3	3	0	2	rs142537827		TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr16:1129503C>T	ENST00000293897.4	+	1	723	c.635C>T	c.(634-636)gCg>gTg	p.A212V	SSTR5_ENST00000397547.2_Missense_Mutation_p.A212V|SSTR5_ENST00000562758.1_Missense_Mutation_p.A212V	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	212					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GGCTTCTTCGCGCCGCTGCTG	0.706													3	41					0	0	0	0	T	1129503	C	T	1129503	3	4	42	1	0	0	0	0	1	0	0	0	15291	768	27	1	637	1	SSTR5	16	1129503	Missense_Mutation	SNP	C	TCGA-BB-7861-01A-11D-2229-08		1129503	89225250	18	7888											
GNPTG	84572	broad.mit.edu	37	chr16	1412218	1412218	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccccaggtggagctggcGtgtggaaaaagcaaccggct	9	6	14	12	2	0	0	0	0	0	0	1	2	1	2	4	5	3	3	4	5	3	0			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr16:1412218G>A	ENST00000204679.4	+	7	466	c.423G>A	c.(421-423)gcG>gcA	p.A141A		NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	141						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				TGGAGCTGGCGTGTGGAAAAA	0.687													7	42					0	0	0	0	A	1412218	G	A	1412218	2	1	42	1	0	0	0	0	0	0	0	1	6597	1132	40	1		1	GNPTG	16	1412218	Silent	SNP	G	TCGA-BB-7861-01A-11D-2229-08	282715	1412218	88942535	19	7889											
NFATC1	4772	broad.mit.edu	37	chr18	77171332	77171332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgctcaaggtggagcccGtcggggaggacctgggcagc	6	5	19	11	3	1	0	1	0	0	0	2	3	1	3	2	7	2	2	2	7	1	0			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr18:77171332G>A	ENST00000253506.5	+	2	1426	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I	NFATC1_ENST00000542384.1_Missense_Mutation_p.V353I|NFATC1_ENST00000329101.4_Missense_Mutation_p.V340I|NFATC1_ENST00000427363.2_Missense_Mutation_p.V353I|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.V353I|NFATC1_ENST00000592223.1_Missense_Mutation_p.V340I|NFATC1_ENST00000591814.1_Missense_Mutation_p.V353I|NFATC1_ENST00000318065.5_Missense_Mutation_p.V340I|NFATC1_ENST00000586434.1_Missense_Mutation_p.V340I|NFATC1_ENST00000545796.1_Intron	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	353					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GGTGGAGCCCGTCGGGGAGGA	0.682													24	72					0	0	0	0	A	77171332	G	A	77171332	3	1	42	1	0	0	0	0	1	0	0	0	10431	1145	40	1	1155	1	NFATC1	18	77171332	Missense_Mutation	SNP	G	TCGA-BB-7861-01A-11D-2229-08		77171332	905916	20	7890											
SLC27A1	376497	broad.mit.edu	37	chr19	17599705	17599705	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcctaccgcatgcaggcGgctgacgtgctctatgactg	7	8	12	14	4	1	2	0	2	1	0	1	2	1	2	2	2	3	4	2	2	2	2			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr19:17599705G>A	ENST00000252595.7	+	5	940	c.843G>A	c.(841-843)gcG>gcA	p.A281A	SLC27A1_ENST00000598424.1_Silent_p.A102A|SLC27A1_ENST00000442725.1_Silent_p.A281A	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	281	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCATGCAGGCGGCTGACGTGC	0.677													13	27					0	0	0	0	A	17599705	G	A	17599705	2	1	42	1	0	0	0	0	0	0	0	1	14613	1103	39	1		1	SLC27A1	19	17599705	Silent	SNP	G	TCGA-BB-7861-01A-11D-2229-08		17599705	41529278	21	7891											
CLIP3	25999	broad.mit.edu	37	chr19	36517641	36517641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaggcgcacggctgccgCggggtcccctgcgcgatagg	5	4	18	14	7	0	1	0	0	0	1	1	3	1	1	3	5	2	2	3	5	1	1			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr19:36517641C>T	ENST00000360535.4	-	5	636	c.409G>A	c.(409-411)Gcg>Acg	p.A137T	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.A137T	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	137					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACGGCTGCCGCGGGGTCCCCT	0.672													6	8					0	0	0	0	T	36517641	C	T	36517641	3	4	42	1	0	0	0	0	1	0	0	0	3564	768	27	1	1274	1	CLIP3	19	36517641	Missense_Mutation	SNP	C	TCGA-BB-7861-01A-11D-2229-08	18917936	36517641	22611342	22	7892											
CYP2A7	1549	broad.mit.edu	37	chr19	41382568	41382568	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcatagggaacacttcGgtgccctggtagggaggagg	9	6	16	10	1	0	0	0	0	0	0	1	3	0	3	2	6	3	2	2	6	3	3			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr19:41382568G>A	ENST00000301146.4	-	8	1708	c.1167C>T	c.(1165-1167)acC>acT	p.T389T	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.T338T	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	389						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGAACACTTCGGTGCCCTGGT	0.577													21	62					0	0	0	0	A	41382568	G	A	41382568	2	1	42	1	0	0	0	0	0	0	0	1	4195	1103	39	1		1	CYP2A7	19	41382568	Silent	SNP	G	TCGA-BB-7861-01A-11D-2229-08	4864927	41382568	17746415	23	7893											
PNMAL1	55228	broad.mit.edu	37	chr19	46973295	46973295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccatcttggtctgactcaGaggcgcctcctgggctctcg	5	10	11	15	2	4	2	1	1	3	1	6	2	5	2	3	3	0	1	3	3	0	1			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr19:46973295G>A	ENST00000313683.10	-	2	1303	c.998C>T	c.(997-999)tCt>tTt	p.S333F	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.S333F	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	333										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GTCTGACTCAGAGGCGCCTCC	0.597													85	174					0	0	0	0	A	46973295	G	A	46973295	3	1	42	1	0	0	0	0	1	0	0	0	12229	942	33	2	351	2	PNMAL1	19	46973295	Missense_Mutation	SNP	G	TCGA-BB-7861-01A-11D-2229-08	5590727	46973295	12155688	24	7894											
ZNF761	388561	broad.mit.edu	37	chr19	53946133	53946133	+	RNA	DEL	A	A	-																															tctttaaaaatcatgttgtgAaaaaaaaaatacataatcac																								rs35108555		TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr19:53946133delA	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATGTTGTGAAAAAAAAAAT	0.348													5	3	---	---	---	---					-	53946133	A	-	53946133	6	5	42	0	1	1	0	1	0	0	0	0	18230	261	9	0		0	ZNF761	19	53946133	RNA	DEL	A	TCGA-BB-7861-01A-11D-2229-08	6972838	53946133	5182850	25	7895											
TRPM2	7226	broad.mit.edu	37	chr21	45837902	45837902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccacggccgccccgccgCgccgccccccttcatcctcc	3	5	8	25	6	1	0	1	0	0	0	3	0	3	0	11	1	1	1	11	1	1	2	rs139485554	byFrequency	TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr21:45837902C>T	ENST00000397928.1	+	21	3684	c.3239C>T	c.(3238-3240)gCg>gTg	p.A1080V	TRPM2_ENST00000300481.9_Missense_Mutation_p.A1060V|TRPM2_ENST00000397932.2_Missense_Mutation_p.A1080V|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.A1080V	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1080						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						cgccccgccgcgccgcccccc	0.627													21	76					0	0	0	0	T	45837902	C	T	45837902	3	4	42	1	0	0	0	0	1	0	0	0	16681	768	27	1	3321	1	TRPM2	21	45837902	Missense_Mutation	SNP	C	TCGA-BB-7861-01A-11D-2229-08		45837902	2291993	26	7896											
CABIN1	23523	broad.mit.edu	37	chr22	24509711	24509711	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcagggggccacagaagaAagaggtatgaagccctaact	14	6	12	9	0	1	4	1	1	0	3	1	4	1	4	2	3	2	1	2	3	5	3			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr22:24509711A>C	ENST00000398319.2	+	27	4681	c.4296A>C	c.(4294-4296)gaA>gaC	p.E1432D	CABIN1_ENST00000263119.5_Missense_Mutation_p.E1432D|CABIN1_ENST00000405822.2_Missense_Mutation_p.E1353D	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1432					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCACAGAAGAAAGAGGTATGA	0.542													16	49					0	0	0	0	C	24509711	A	C	24509711	3	2	42	1	0	0	0	0	1	0	0	0	2553	11	1	5	4398	5	CABIN1	22	24509711	Missense_Mutation	SNP	A	TCGA-BB-7861-01A-11D-2229-08		24509711	26794855	27	7897											
MYH9	4627	broad.mit.edu	37	chr22	36710335	36710335	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcttctcattggtgtaaTtgatgcacagctgctcaaac	10	12	9	10	0	2	1	2	1	1	0	3	1	2	1	0	1	5	6	0	1	2	4			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chr22:36710335T>C	ENST00000216181.5	-	13	1639	c.1409A>G	c.(1408-1410)aAt>aGt	p.N470S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	470	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ATTGGTGTAATTGATGCACAG	0.527			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				15	43					0	0	0	0	C	36710335	T	C	36710335	3	2	42	1	0	0	0	0	1	0	0	0	10112	1493	52	5	4589	5	MYH9	22	36710335	Missense_Mutation	SNP	T	TCGA-BB-7861-01A-11D-2229-08	12200624	36710335	14594231	28	7898											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177312	89177312	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tataagcatcggtttaaggcCtacccttcagaagaagagaa	15	9	9	8	1	1	3	1	0	0	3	2	4	1	3	2	2	2	2	2	2	7	6			TCGA-BB-7861-01A-11D-2229-08	TCGA-BB-7861-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77cb5c69-f15e-45de-a060-0e8b52648209	baa74281-5ff2-4100-a721-5698c8e648b5	g.chrX:89177312C>G	ENST00000561129.2	+	1	358	c.228C>G	c.(226-228)gcC>gcG	p.A76A	TGIF2LX_ENST00000283891.5_Silent_p.A76A			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	76						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GGTTTAAGGCCTACCCTTCAG	0.468													39	51					0	0	0	0	G	89177312	C	G	89177312	2	3	42	1	0	0	0	0	0	0	0	1	15921	668	24	4		4	TGIF2LX	23	89177312	Silent	SNP	C	TCGA-BB-7861-01A-11D-2229-08		89177312	66093248	29	7899											
MTOR	2475	broad.mit.edu	37	chr1	11294218	11294218	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttcagaataggctccatGtaggggcggatgagtcgggg	9	8	16	8	2	1	2	1	1	0	1	3	3	2	3	2	6	0	2	2	6	3	3	rs148505575		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:11294218G>A	ENST00000361445.4	-	14	2389	c.2313C>T	c.(2311-2313)taC>taT	p.Y771Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	771					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TAGGCTCCATGTAGGGGCGGA	0.542													55	20					0	0	0	0	A	11294218	G	A	11294218	2	1	43	1	0	0	0	0	0	0	0	1	10024	1372	48	4		4	MTOR	1	11294218	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08		11294218	237956403	1	7900											
PRAMEF10	343071	broad.mit.edu	37	chr1	12952809	12952809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagttagggcaagggaCgggaccaaagaagatcctct	13	5	13	10	1	1	2	0	0	1	2	2	4	2	4	3	3	0	2	3	3	4	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:12952809C>A	ENST00000235347.4	-	4	1442	c.1363G>T	c.(1363-1365)Gtc>Ttc	p.V455F		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	455										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAAGGGACGGGACCAAAG	0.537													28	5					2.48779e-11	3.03809e-11	1	0	A	12952809	C	A	12952809	3	1	43	1	0	0	0	0	1	0	0	0	12502	536	19	3	65	3	PRAMEF10	1	12952809	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1658591	12952809	236297812	2	7901											
CLCNKA	1187	broad.mit.edu	37	chr1	16354523	16354523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccccgcagtggcatctgcGgcgtcctgagctgtgcttac	5	9	12	15	3	1	1	0	1	1	0	2	1	2	1	3	2	4	4	3	2	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:16354523G>T	ENST00000375692.1	+	11	1005	c.877G>T	c.(877-879)Ggc>Tgc	p.G293C	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G293C|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G250C|CLCNKA_ENST00000331433.4_Missense_Mutation_p.G293C			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	293					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TGGCATCTGCGGCGTCCTGAG	0.582													36	22					4.92203e-23	6.88304e-23	1	0	T	16354523	G	T	16354523	3	4	43	1	0	0	0	0	1	0	0	0	3499	1116	39	3	911	3	CLCNKA	1	16354523	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	3401714	16354523	232896098	3	7902											
CSMD2	114784	broad.mit.edu	37	chr1	34066553	34066553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaactctgcactgttttCttggccatgctccgggtgaa	7	13	11	10	1	2	2	0	2	2	0	3	3	3	2	2	2	3	3	2	2	2	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:34066553C>A	ENST00000373381.4	-	44	6944	c.6768G>T	c.(6766-6768)aaG>aaT	p.K2256N	CSMD2_ENST00000373377.1_Missense_Mutation_p.K355N|CSMD2_ENST00000373388.2_Missense_Mutation_p.K355N|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.K1129N	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2258	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCACTGTTTTCTTGGCCATGC	0.557													55	21					2.47907e-22	3.44857e-22	1	0	A	34066553	C	A	34066553	3	1	43	1	0	0	0	0	1	0	0	0	3977	912	32	2	3789	2	CSMD2	1	34066553	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	17712030	34066553	215184068	4	7903											
CSMD2	114784	broad.mit.edu	37	chr1	34066577	34066577	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgctccgggtgaagacGccgagccgtggtgctgtttg	5	9	16	11	4	0	2	0	1	0	1	1	3	1	2	4	2	3	3	4	2	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:34066577G>T	ENST00000373381.4	-	44	6920	c.6744C>A	c.(6742-6744)ggC>ggA	p.G2248G	CSMD2_ENST00000373377.1_Silent_p.G347G|CSMD2_ENST00000373388.2_Silent_p.G347G|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373380.1_Silent_p.G1121G	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2250	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGTGAAGACGCCGAGCCGTG	0.582													49	18					7.34454e-26	1.0408e-25	1	0	T	34066577	G	T	34066577	2	4	43	1	0	0	0	0	0	0	0	1	3977	1074	38	3		3	CSMD2	1	34066577	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	24	34066577	215184044	5	7904											
SLC6A9	6536	broad.mit.edu	37	chr1	44474158	44474158	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaccggcgcagtcatgcgTgttccaggggttattgcagt	7	11	13	10	3	1	0	1	0	0	0	2	0	2	0	2	3	3	4	2	3	2	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:44474158T>A	ENST00000372310.3	-	5	622	c.457A>T	c.(457-459)Acg>Tcg	p.T153S	SLC6A9_ENST00000372306.3_Missense_Mutation_p.T153S|SLC6A9_ENST00000475075.2_Missense_Mutation_p.T42S|SLC6A9_ENST00000372307.3_Missense_Mutation_p.T88S|SLC6A9_ENST00000360584.2_Missense_Mutation_p.T226S|SLC6A9_ENST00000537678.1_Missense_Mutation_p.T88S|SLC6A9_ENST00000357730.2_Missense_Mutation_p.T172S	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	226						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CAGTCATGCGTGTTCCAGGGG	0.592													33	54					0	0	0	0	A	44474158	T	A	44474158	3	1	43	1	0	0	0	0	1	0	0	0	14779	1696	59	5	1484	5	SLC6A9	1	44474158	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	10407581	44474158	204776463	6	7905											
RNF220	55182	broad.mit.edu	37	chr1	45110420	45110420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaacccggacagtgatgctGacttggatgtggatggggat	10	9	16	6	1	0	3	0	2	0	1	0	7	0	7	1	5	2	1	1	5	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:45110420G>A	ENST00000355387.2	+	9	1627	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	RNF220_ENST00000361799.2_Missense_Mutation_p.D393N|RNF220_ENST00000480686.1_3'UTR|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000443020.2_Missense_Mutation_p.D180N|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000372247.2_Missense_Mutation_p.D393N			Q5VTB9	RN220_HUMAN	ring finger protein 220	393					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CAGTGATGCTGACTTGGATGT	0.592													26	42					0	0	0	0	A	45110420	G	A	45110420	3	1	43	1	0	0	0	0	1	0	0	0	13568	1290	45	2	1207	2	RNF220	1	45110420	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	636262	45110420	204140201	7	7906											
PTCH2	8643	broad.mit.edu	37	chr1	45307563	45307563	+	Frame_Shift_Del	DEL	C	C	-																															ttgtctcaataatggccatgCggagacctaatgccagggcc																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:45307563delC	ENST00000447098.2	-	2	232	c.221delG	c.(220-222)ccfs	p.R74fs	PTCH2_ENST00000372192.3_Frame_Shift_Del_p.R74fs	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	74					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AATGGCCATGCGGAGACCTAA	0.537									Basal Cell Nevus syndrome				46	61	---	---	---	---					-	45307563	C	-	45307563	7	5	43	1	0	1	0	1	0	0	0	0	12810	768	27	0	3494	0	PTCH2	1	45307563	Frame_Shift_Del	DEL	C	TCGA-BB-7862-01A-21D-2229-08	197143	45307563	203943058	8	7907											
CYP4B1	1580	broad.mit.edu	37	chr1	47282727	47282727	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgttgctggcagggatgatCtgggcaaaatgacttatctg	9	12	14	6	0	2	2	0	2	2	0	2	3	2	3	0	3	1	4	0	3	3	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:47282727C>T	ENST00000271153.4	+	9	1114	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	CYP4B1_ENST00000371919.4_Silent_p.L346L|CYP4B1_ENST00000452782.2_Silent_p.L198L|CYP4B1_ENST00000371923.4_Silent_p.L361L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	360					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CAGGGATGATCTGGGCAAAAT	0.547													72	93					0	0	0	0	T	47282727	C	T	47282727	2	4	43	1	0	0	0	0	0	0	0	1	4217	912	32	2		2	CYP4B1	1	47282727	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1975164	47282727	201967894	9	7908											
CYP4X1	260293	broad.mit.edu	37	chr1	47501491	47501491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgccaggataagtgggagaAgatttgcagcactcaggaca	13	7	14	7	0	1	2	1	0	0	2	1	5	1	4	1	3	3	2	1	3	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:47501491A>G	ENST00000371901.3	+	5	756	c.506A>G	c.(505-507)aAg>aGg	p.K169R	CYP4X1_ENST00000538609.1_Missense_Mutation_p.K168R	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	169						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AAGTGGGAGAAGATTTGCAGC	0.483													22	48					0	0	0	0	G	47501491	A	G	47501491	3	3	43	1	0	0	0	0	1	0	0	0	4225	72	3	5	524	5	CYP4X1	1	47501491	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	218764	47501491	201749130	10	7909											
MYSM1	114803	broad.mit.edu	37	chr1	59165708	59165708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcgatatccacatccGcctcttcagccgccatgatg	7	10	6	18	3	2	1	1	1	1	0	5	2	4	1	7	0	1	0	7	0	1	3	rs12402204		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:59165708G>A	ENST00000472487.1	-	1	56	c.17C>T	c.(16-18)gCg>gTg	p.A6V		NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	6					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ATCCACATCCGCCTCTTCAGC	0.682													18	20					0	0	0	0	A	59165708	G	A	59165708	3	1	43	1	0	0	0	0	1	0	0	0	10171	1087	38	1	2549	1	MYSM1	1	59165708	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	11664217	59165708	190084913	11	7910											
C1orf87	127795	broad.mit.edu	37	chr1	60503779	60503779	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtagcttttcataattcaCctgaaaattaaatgtaaaat	17	14	5	5	0	2	1	2	1	0	0	2	2	2	1	1	0	1	3	1	0	8	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:60503779C>T	ENST00000371201.3	-	6	855	c.747_splice	c.e6-1	p.V250_splice	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	250							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCATAATTCACCTGAAAATTA	0.333													9	19					0	0	0	0	T	60503779	C	T	60503779	5	4	43	1	0	0	0	0	0	0	1	0	2084	521	18	4	920	4	C1orf87	1	60503779	Splice_Site	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1338071	60503779	188746842	12	7911											
C1orf87	127795	broad.mit.edu	37	chr1	60505791	60505791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgtgacttgagttctcttCtgaccagggcaagaagaaaa	13	9	11	8	1	2	5	0	3	2	2	3	6	2	5	1	1	0	2	1	1	4	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:60505791C>T	ENST00000371201.3	-	5	652	c.545G>A	c.(544-546)aGa>aAa	p.R182K	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	182							calcium ion binding	p.R182T(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGTTCTCTTCTGACCAGGGC	0.423													47	61					0	0	0	0	T	60505791	C	T	60505791	3	4	43	1	0	0	0	0	1	0	0	0	2084	913	32	2	1127	2	C1orf87	1	60505791	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	2012	60505791	188744830	13	7912											
USP1	7398	broad.mit.edu	37	chr1	62910842	62910842	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgagagtccaagacccTcacaaaagaaatcaagagtt	20	6	7	8	0	2	4	2	1	0	4	3	5	3	4	2	0	0	1	2	0	7	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:62910842T>A	ENST00000339950.4	+	6	1806	c.991T>A	c.(991-993)Tca>Aca	p.S331T	USP1_ENST00000371146.1_Missense_Mutation_p.S331T	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	331					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TCCAAGACCCTCACAAAAGAA	0.323													33	31					0	0	0	0	A	62910842	T	A	62910842	3	1	43	1	0	0	0	0	1	0	0	0	17136	1551	54	5	1009	5	USP1	1	62910842	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	2405051	62910842	186339779	14	7913											
JAK1	3716	broad.mit.edu	37	chr1	65316496	65316497	+	Frame_Shift_Del	DEL	AT	AT	-																															ccgtgactcacctgcaccagAtccttcttgaggatccgatc																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:65316496_65316497delAT	ENST00000342505.4	-	12	1993_1994	c.1745_1746delAT	c.(1744-1746)gfs	p.D582fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	582					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CCTGCACCAGATCCTTCTTGAG	0.589			Mis		ALL								9	10	---	---	---	---					-	65316497	AT	-	65316496	7	5	43	1	0	1	0	1	0	0	0	0	7990	330	12	0	1774	0	JAK1	1	65316496	Frame_Shift_Del	DEL	AT	TCGA-BB-7862-01A-21D-2229-08	2405654	65316496	183934125	15	7914											
LEPR	3953	broad.mit.edu	37	chr1	66062270	66062270	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaattctacaacagttatCagagaagtaagtatatttta	17	13	7	4	0	2	2	1	0	1	2	2	4	2	2	0	0	2	3	0	0	9	8			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:66062270C>A	ENST00000349533.6	+	7	1028	c.843C>A	c.(841-843)atC>atA	p.I281I	LEPR_ENST00000371058.1_Silent_p.I281I|LEPR_ENST00000371059.3_Silent_p.I281I|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Silent_p.I281I|LEPR_ENST00000344610.8_Silent_p.I281I|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	281	Fibronectin type-III 1.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAACAGTTATCAGAGAAGTAA	0.328													10	19					3.86212e-05	4.1352e-05	1	0	A	66062270	C	A	66062270	2	1	43	1	0	0	0	0	0	0	0	1	8781	816	29	2		2	LEPR	1	66062270	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	745774	66062270	183188351	16	7915											
C1orf173	127254	broad.mit.edu	37	chr1	75055753	75055753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggatgaggttgatgaagCagttttcatatctacaaaaa	14	13	9	5	0	3	3	1	3	2	0	3	4	3	4	0	2	2	3	0	2	5	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:75055753C>T	ENST00000326665.5	-	12	1956	c.1738G>A	c.(1738-1740)Gct>Act	p.A580T	C1orf173_ENST00000420661.2_Missense_Mutation_p.A383T|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	580	Glu-rich.									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						GTTGATGAAGCAGTTTTCATA	0.368													7	14					0	0	0	0	T	75055753	C	T	75055753	3	4	43	1	0	0	0	0	1	0	0	0	2033	710	25	4	2866	4	C1orf173	1	75055753	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	8993483	75055753	174194868	17	7916											
SLC44A5	204962	broad.mit.edu	37	chr1	75805305	75805305	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgaaatctgggtcatatgtCcttggatcacctgcatttaa	10	15	8	8	0	3	1	2	1	1	0	4	2	4	2	2	2	1	1	2	2	3	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:75805305C>T	ENST00000370855.5	-	4	176	c.63G>A	c.(61-63)agG>agA	p.R21R	SLC44A5_ENST00000370859.3_Silent_p.R21R|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	21						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGTCATATGTCCTTGGATCAC	0.328													143	211					0	0	0	0	T	75805305	C	T	75805305	2	4	43	1	0	0	0	0	0	0	0	1	14727	854	30	2		2	SLC44A5	1	75805305	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	749552	75805305	173445316	18	7917											
COL24A1	255631	broad.mit.edu	37	chr1	86200453	86200453	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcagtcatctgaaagcacTttaggttcaagtagagtgtt	11	14	10	6	0	3	2	2	1	1	1	3	2	3	2	0	1	2	5	0	1	4	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:86200453T>C	ENST00000370571.2	-	59	5343	c.4977A>G	c.(4975-4977)aaA>aaG	p.K1659K	COL24A1_ENST00000436319.1_Silent_p.K1638K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1659	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGAAAGCACTTTAGGTTCAA	0.358													42	67					0	0	0	0	C	86200453	T	C	86200453	2	2	43	1	0	0	0	0	0	0	0	1	3713	1606	56	5		5	COL24A1	1	86200453	Silent	SNP	T	TCGA-BB-7862-01A-21D-2229-08	10395148	86200453	163050168	19	7918											
COL11A1	1301	broad.mit.edu	37	chr1	103381186	103381186	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taacaataacacagtacttaCgcctacacctgcttccccag	13	9	4	15	1	0	0	0	0	0	0	1	0	1	0	4	0	6	2	4	0	6	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:103381186C>G	ENST00000358392.2	-	50	4170		c.e50+1		COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACAGTACTTACGCCTACACCT	0.388													30	10					0	0	0	0	G	103381186	C	G	103381186	5	3	43	1	0	0	0	0	0	0	1	0	3697	550	19	3	1675	3	COL11A1	1	103381186	Splice_Site	SNP	C	TCGA-BB-7862-01A-21D-2229-08	17180733	103381186	145869435	20	7919											
PDE4DIP	9659	broad.mit.edu	37	chr1	144880744	144880744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaccctgtgctcttaccaGgactggtggtttcctcccgt	5	12	9	15	1	1	0	0	0	1	0	3	1	3	1	4	3	2	2	4	3	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:144880744G>T	ENST00000369359.4	-	29	4330	c.4292C>A	c.(4291-4293)cCt>cAt	p.P1431H	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1295H|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P1431H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.P1295H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P1251H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1295					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTCTTACCAGGACTGGTGGT	0.567			T	PDGFRB	MPD								64	67					8.50881e-52	1.27033e-51	1	0	T	144880744	G	T	144880744	3	4	43	1	0	0	0	0	1	0	0	0	11714	1000	35	4	3232	4	PDE4DIP	1	144880744	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	41499558	144880744	104369877	21	7920											
PDE4DIP	9659	broad.mit.edu	37	chr1	144918863	144918863	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctccttgtgactcagactAtggtttaggtgctggatgtt	6	16	12	7	0	1	2	1	1	0	1	2	3	2	3	1	3	2	4	1	3	2	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:144918863A>T	ENST00000529945.1	-	6	2251	c.1812T>A	c.(1810-1812)caT>caA	p.H604Q	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H441Q|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.H441Q|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.H441Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H578Q|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H578Q|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H441Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H507Q|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.H228Q|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.H604Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	441					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACTCAGACTATGGTTTAGGT	0.388			T	PDGFRB	MPD								121	366					0	0	0	0	T	144918863	A	T	144918863	3	4	43	1	0	0	0	0	1	0	0	0	11714	446	16	5	5867	5	PDE4DIP	1	144918863	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	38119	144918863	104331758	22	7921											
FLG2	388698	broad.mit.edu	37	chr1	152324044	152324044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatctcctgtctgtccaTgagtagttccgtgtctctca	5	16	9	11	1	4	1	1	1	3	0	8	1	6	1	3	1	0	3	3	1	2	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:152324044T>C	ENST00000388718.5	-	3	6290	c.6218A>G	c.(6217-6219)cAt>cGt	p.H2073R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2073							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGTCCATGAGTAGTTCC	0.532													233	370					0	0	0	0	C	152324044	T	C	152324044	3	2	43	1	0	0	0	0	1	0	0	0	5968	1464	51	5	961	5	FLG2	1	152324044	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	7405181	152324044	96926577	23	7922											
IQGAP3	128239	broad.mit.edu	37	chr1	156500967	156500967	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacttgctctctggaagcCgagagggacaggatctcctt	8	10	11	12	1	3	1	1	0	2	1	5	5	3	4	2	3	2	1	2	3	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:156500967C>A	ENST00000361170.2	-	33	4186	c.4176G>T	c.(4174-4176)tcG>tcT	p.S1392S		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1392					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCTGGAAGCCGAGAGGGACA	0.582													78	18					8.41775e-28	1.20254e-27	1	0	A	156500967	C	A	156500967	2	1	43	1	0	0	0	0	0	0	0	1	7869	639	23	3		3	IQGAP3	1	156500967	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	4176923	156500967	92749654	24	7923											
APCS	325	broad.mit.edu	37	chr1	159558302	159558302	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggcaggaacaggattcctAtgggggcaagtttgatagga	11	8	17	5	0	0	1	0	1	0	0	1	4	1	4	1	7	1	3	1	7	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:159558302A>G	ENST00000255040.2	+	2	573	c.476A>G	c.(475-477)tAt>tGt	p.Y159C		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	159	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CAGGATTCCTATGGGGGCAAG	0.498													43	4					0	0	0	0	G	159558302	A	G	159558302	3	3	43	1	0	0	0	0	1	0	0	0	768	449	16	5	482	5	APCS	1	159558302	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	3057335	159558302	89692319	25	7924											
DCAF6	55827	broad.mit.edu	37	chr1	168007626	168007626	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagataacaataatgaaaagCtgagccccaaaccagggaca	19	4	8	10	0	0	3	0	2	0	1	0	4	0	4	3	1	4	1	3	1	6	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:168007626C>T	ENST00000367840.3	+	13	1721	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	DCAF6_ENST00000312263.6_Silent_p.L466L|DCAF6_ENST00000432587.2_Silent_p.L512L|DCAF6_ENST00000367843.3_Silent_p.L486L	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	522					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TAATGAAAAGCTGAGCCCCAA	0.323													20	46					0	0	0	0	T	168007626	C	T	168007626	2	4	43	1	0	0	0	0	0	0	0	1	4307	796	28	4		4	DCAF6	1	168007626	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	8449324	168007626	81242995	26	7925											
CACNA1E	777	broad.mit.edu	37	chr1	181767769	181767769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagactgtggtgaggaGgagacgctcactttcgaagc	9	8	14	10	2	2	3	2	1	0	2	3	6	2	4	1	3	1	1	1	3	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:181767769G>A	ENST00000526775.1	+	46	6720	c.6555G>A	c.(6553-6555)gaG>gaA	p.E2185E	CACNA1E_ENST00000358338.5_Silent_p.E2136E|CACNA1E_ENST00000367570.1_Silent_p.E2204E|CACNA1E_ENST00000367573.2_Silent_p.E2247E|CACNA1E_ENST00000367567.4_Silent_p.E1811E|CACNA1E_ENST00000357570.5_Silent_p.E2198E|CACNA1E_ENST00000360108.3_Silent_p.E2228E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2247					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTGGTGAGGAGGAGACGCTCA	0.642													9	20					0	0	0	0	A	181767769	G	A	181767769	2	1	43	1	0	0	0	0	0	0	0	1	2567	991	35	4		4	CACNA1E	1	181767769	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	13760143	181767769	67482852	27	7926											
HMCN1	83872	broad.mit.edu	37	chr1	186010236	186010236	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtgaatgctgctggagAaaagcaaagggacattgacc	14	6	14	7	0	0	3	0	2	0	1	0	5	0	4	1	3	3	4	1	3	4	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:186010236A>C	ENST00000271588.4	+	40	6501	c.6272A>C	c.(6271-6273)gAa>gCa	p.E2091A	HMCN1_ENST00000367492.2_Missense_Mutation_p.E2091A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2091	Ig-like C2-type 18.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTGCTGGAGAAAAGCAAAGG	0.438													24	45					0	0	0	0	C	186010236	A	C	186010236	3	2	43	1	0	0	0	0	1	0	0	0	7270	246	9	5	6430	5	HMCN1	1	186010236	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	4242467	186010236	63240385	28	7927											
PTGS2	5743	broad.mit.edu	37	chr1	186648537	186648537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacactcatacatacacctCggttttgacatgggtgggaa	11	10	9	11	1	1	1	1	1	0	0	2	2	1	2	2	3	2	1	2	3	3	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:186648537C>T	ENST00000367468.5	-	2	222	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	29	EGF-like.				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	ACATACACCTCGGTTTTGACA	0.388													24	7					0	0	0	0	T	186648537	C	T	186648537	3	4	43	1	0	0	0	0	1	0	0	0	12836	884	31	1	1764	1	PTGS2	1	186648537	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	638301	186648537	62602084	29	7928											
KCNT2	343450	broad.mit.edu	37	chr1	196295847	196295847	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatcttaaaatatacttacGggttatccaatagcagtact	14	14	6	7	1	1	0	0	0	1	0	2	0	2	0	1	1	4	4	1	1	10	8			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:196295847G>A	ENST00000367433.5	-	19	2377	c.2276_splice	c.e19+1	p.P759_splice	KCNT2_ENST00000367431.4_Splice_Site_p.P709_splice|KCNT2_ENST00000451324.2_Splice_Site_p.P370_splice|KCNT2_ENST00000294725.8_Splice_Site_p.P759_splice|KCNT2_ENST00000498426.1_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	759						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATATACTTACGGGTTATCCAA	0.284													12	14					0	0	0	0	A	196295847	G	A	196295847	5	1	43	1	0	0	0	0	0	0	1	0	8145	1130	39	1	1171	1	KCNT2	1	196295847	Splice_Site	SNP	G	TCGA-BB-7862-01A-21D-2229-08	9647310	196295847	52954774	30	7929											
ASPM	259266	broad.mit.edu	37	chr1	197053484	197053484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaagcgtatccatcacCatttgaatagcttgcagggg	11	10	10	10	1	1	1	1	1	0	0	2	1	2	1	3	2	4	3	3	2	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:197053484C>A	ENST00000367409.4	-	28	10660	c.10404G>T	c.(10402-10404)atG>atT	p.M3468I	ASPM_ENST00000294732.7_Missense_Mutation_p.M1883I|ASPM_ENST00000367408.1_Missense_Mutation_p.M1133I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3468					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TATCCATCACCATTTGAATAG	0.328													14	24					1.67942e-08	1.9019e-08	1	0	A	197053484	C	A	197053484	3	1	43	1	0	0	0	0	1	0	0	0	1060	594	21	4	33	4	ASPM	1	197053484	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	757637	197053484	52197137	31	7930											
CRB1	23418	broad.mit.edu	37	chr1	197390841	197390841	+	Frame_Shift_Del	DEL	T	T	-																															cagcaatggtgttgctctgcTtaacttctataatatgccat																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:197390841delT	ENST00000367397.1	+	2	884	c.26delT	c.(25-27)ctfs	p.L9fs	CRB1_ENST00000535699.1_Frame_Shift_Del_p.L559fs|CRB1_ENST00000367400.3_Frame_Shift_Del_p.L628fs|CRB1_ENST00000367399.2_Frame_Shift_Del_p.L516fs|CRB1_ENST00000538660.1_Frame_Shift_Del_p.L628fs|CRB1_ENST00000544212.1_Frame_Shift_Del_p.L109fs|CRB1_ENST00000543483.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	628					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTTGCTCTGCTTAACTTCTAT	0.428													79	21	---	---	---	---					-	197390841	T	-	197390841	7	5	43	1	0	1	0	1	0	0	0	0	3878	1609	56	0	1905	0	CRB1	1	197390841	Frame_Shift_Del	DEL	T	TCGA-BB-7862-01A-21D-2229-08	337357	197390841	51859780	32	7931											
CACNA1S	779	broad.mit.edu	37	chr1	201036040	201036040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccatggagatgagggacaCggccaccaccagcaggtcca	11	4	12	14	1	0	2	0	1	0	1	2	4	2	3	5	4	1	1	5	4	0	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:201036040C>A	ENST00000362061.3	-	20	2858	c.2632G>T	c.(2632-2634)Gtg>Ttg	p.V878L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V878L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	878					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATGAGGGACACGGCCACCACC	0.607													11	22					0.000978159	0.00102253	1	0	A	201036040	C	A	201036040	3	1	43	1	0	0	0	0	1	0	0	0	2572	536	19	3	3089	3	CACNA1S	1	201036040	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	3645199	201036040	48214581	33	7932											
IGFN1	91156	broad.mit.edu	37	chr1	201195238	201195238	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accagccagccctggtgcatCccccggcagcgcggtaagca	8	4	12	17	3	0	0	0	0	0	0	1	0	1	0	5	3	5	4	5	3	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:201195238C>A	ENST00000335211.4	+	22	10903	c.10773C>A	c.(10771-10773)atC>atA	p.I3591I	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTGGTGCATCCCCCGGCAGC	0.667													33	7					3.90053e-15	4.99343e-15	1	0	A	201195238	C	A	201195238	2	1	43	1	0	0	0	0	0	0	0	1	7643	845	30	2		2	IGFN1	1	201195238	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	159198	201195238	48055383	34	7933											
CR2	1380	broad.mit.edu	37	chr1	207649644	207649644	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atactggtggaaacatagctCgattttctcctggaatgtca	11	13	9	8	1	2	0	1	0	1	0	4	3	2	2	1	3	3	1	1	3	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:207649644C>T	ENST00000367057.3	+	15	2971	c.2782C>T	c.(2782-2784)Cga>Tga	p.R928*	CR2_ENST00000367059.3_Intron|CR2_ENST00000367058.3_Nonsense_Mutation_p.R869*|CR2_ENST00000458541.2_Nonsense_Mutation_p.R842*	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	869	Sushi 15.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AAACATAGCTCGATTTTCTCC	0.512													20	56					0	0	0	0	T	207649644	C	T	207649644	4	4	43	1	0	0	0	0	0	1	0	0	3872	876	31	1	2840	1	CR2	1	207649644	Nonsense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	6454406	207649644	41600977	35	7934											
USH2A	7399	broad.mit.edu	37	chr1	215956128	215956128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagacaattgtatcttcaaGattgtctattttggtccacg	11	16	7	7	1	3	2	1	0	2	2	4	2	4	2	1	1	0	1	1	1	5	8			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:215956128G>T	ENST00000366943.2	-	53	10923	c.10537C>A	c.(10537-10539)Ctt>Att	p.L3513I	USH2A_ENST00000307340.3_Missense_Mutation_p.L3513I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3513	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTATCTTCAAGATTGTCTATT	0.383										HNSCC(13;0.011)			22	31					3.01185e-09	3.47773e-09	1	0	T	215956128	G	T	215956128	3	4	43	1	0	0	0	0	1	0	0	0	17132	942	33	2	5151	2	USH2A	1	215956128	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	8306484	215956128	33294493	36	7935											
USH2A	7399	broad.mit.edu	37	chr1	216040501	216040501	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtacgaagagcatatattcaTaggttgtaaacctaaaatgt	16	12	8	5	1	1	1	1	0	0	1	1	2	1	1	1	1	3	4	1	1	9	8			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:216040501T>C	ENST00000366943.2	-	44	9079	c.8693A>G	c.(8692-8694)tAt>tGt	p.Y2898C	USH2A_ENST00000307340.3_Missense_Mutation_p.Y2898C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2898	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATATATTCATAGGTTGTAAA	0.343										HNSCC(13;0.011)			8	22					0	0	0	0	C	216040501	T	C	216040501	3	2	43	1	0	0	0	0	1	0	0	0	17132	1406	49	5	7031	5	USH2A	1	216040501	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	84373	216040501	33210120	37	7936											
SPATA17	128153	broad.mit.edu	37	chr1	217947724	217947724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaaagagcctgatccatggGagctgcaattacagaaggca	15	6	12	8	0	0	3	0	1	0	2	1	5	1	4	2	2	4	3	2	2	5	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:217947724G>A	ENST00000366933.4	+	7	623	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	190						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TGATCCATGGGAGCTGCAATT	0.393													50	36					0	0	0	0	A	217947724	G	A	217947724	3	1	43	1	0	0	0	0	1	0	0	0	15092	1175	41	2	594	2	SPATA17	1	217947724	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1907223	217947724	31302897	38	7937											
HLX	3142	broad.mit.edu	37	chr1	221053233	221053233	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggctcccttctacgccTccaacttcagcctctggtcg	4	11	9	17	2	3	0	1	0	2	0	6	0	5	0	4	3	3	2	4	3	2	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:221053233T>A	ENST00000366903.6	+	1	1535	c.34T>A	c.(34-36)Tcc>Acc	p.S12T	HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	12					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CTTCTACGCCTCCAACTTCAG	0.721													16	0					0	0	0	0	A	221053233	T	A	221053233	3	1	43	1	0	0	0	0	1	0	0	0	7266	1551	54	5	36	5	HLX	1	221053233	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	3105509	221053233	28197388	39	7938											
C1orf65	164127	broad.mit.edu	37	chr1	223568415	223568415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacaaggtgcagcacctccGggagctcaaccacctgaggg	10	4	14	13	1	1	1	1	1	0	0	2	3	2	3	4	4	4	3	4	4	2	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:223568415G>A	ENST00000366875.3	+	1	1701	c.1598G>A	c.(1597-1599)cGg>cAg	p.R533Q		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	533										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CAGCACCTCCGGGAGCTCAAC	0.532													70	11					0	0	0	0	A	223568415	G	A	223568415	3	1	43	1	0	0	0	0	1	0	0	0	2075	1116	39	1	1600	1	C1orf65	1	223568415	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2515182	223568415	25682206	40	7939											
JMJD4	65094	broad.mit.edu	37	chr1	227922491	227922491	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtattcctggaccccacAgtttgcaactggtacaacca	10	11	8	12	0	0	0	0	0	0	0	1	1	1	1	4	2	4	5	4	2	4	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:227922491A>C	ENST00000366758.3	-	2	426	c.427T>G	c.(427-429)Tgt>Ggt	p.C143G	SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.C143G	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	143										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				TGGACCCCACAGTTTGCAACT	0.537													33	32					0	0	0	0	C	227922491	A	C	227922491	3	2	43	1	0	0	0	0	1	0	0	0	8004	188	7	5	984	5	JMJD4	1	227922491	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	4354076	227922491	21328130	41	7940											
SNAP47	116841	broad.mit.edu	37	chr1	227923150	227923150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtcttcactgcgcaggcgccGagcggccgaggcgccgcggt	4	5	17	15	8	2	0	1	0	1	0	2	2	2	0	3	4	2	1	3	4	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:227923150G>C	ENST00000366759.4	+	1	454	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.E14Q	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	14						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CGCAGGCGCCGAGCGGCCGAG	0.746													14	0					0	0	0	0	C	227923150	G	C	227923150	3	2	43	1	0	0	0	0	1	0	0	0	14920	1059	37	3	42	3	SNAP47	1	227923150	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	659	227923150	21327471	42	7941											
HEATR1	55127	broad.mit.edu	37	chr1	236734671	236734671	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaaatattccagcaacagTgcccaaaagtaaaagggcat	17	6	9	9	1	0	0	0	0	0	0	1	1	1	1	2	2	3	3	2	2	7	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:236734671T>C	ENST00000366582.3	-	28	4042	c.3928A>G	c.(3928-3930)Act>Gct	p.T1310A	HEATR1_ENST00000366581.2_Missense_Mutation_p.T1229A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1310					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCAGCAACAGTGCCCAAAAGT	0.413													30	18					0	0	0	0	C	236734671	T	C	236734671	3	2	43	1	0	0	0	0	1	0	0	0	7077	1696	59	5	2578	5	HEATR1	1	236734671	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	8811521	236734671	12515950	43	7942											
RYR2	6262	broad.mit.edu	37	chr1	237617718	237617718	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctctcagcaagaaagcGaaggcttccacagtcgattt	12	9	10	10	2	1	1	1	0	1	1	4	4	2	1	1	1	3	3	1	1	3	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:237617718G>T	ENST00000366574.2	+	15	1637	c.1320G>T	c.(1318-1320)gcG>gcT	p.A440A	RYR2_ENST00000360064.6_Silent_p.A438A|RYR2_ENST00000542537.1_Silent_p.A424A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	440					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCAAGAAAGCGAAGGCTTCCA	0.408													33	29					8.73648e-17	1.15182e-16	1	0	T	237617718	G	T	237617718	2	4	43	1	0	0	0	0	0	0	0	1	13854	1045	37	3		3	RYR2	1	237617718	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	883047	237617718	11632903	44	7943											
GREM2	64388	broad.mit.edu	37	chr1	240656338	240656338	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccttctggattttcttGagtcggaagggtgggtccag	6	14	13	8	1	3	1	1	1	2	0	5	3	4	3	2	4	0	0	2	4	1	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:240656338G>T	ENST00000318160.4	-	2	704	c.438C>A	c.(436-438)ctC>ctA	p.L146L		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	146	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GGATTTTCTTGAGTCGGAAGG	0.662													92	15					2.59407e-49	3.86196e-49	1	0	T	240656338	G	T	240656338	2	4	43	1	0	0	0	0	0	0	0	1	6812	1277	45	2		2	GREM2	1	240656338	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	3038620	240656338	8594283	45	7944											
RGS7	6000	broad.mit.edu	37	chr1	241031928	241031929	+	Frame_Shift_Ins	INS	-	-	A																															aacgctctctcttggctgtcINSaaggatcttcctttcaatct																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:241031928_241031929insA	ENST00000366565.1	-	9	948_949	c.567_568insT	c.(565-570)ctacagfs	p.Q190fs	RGS7_ENST00000366563.1_Frame_Shift_Ins_p.Q190fs|RGS7_ENST00000348120.2_Frame_Shift_Ins_p.Q137fs|RGS7_ENST00000446183.2_Frame_Shift_Ins_p.Q106fs|RGS7_ENST00000366562.4_Frame_Shift_Ins_p.Q190fs|RGS7_ENST00000366564.1_Frame_Shift_Ins_p.Q190fs|RGS7_ENST00000407727.1_Frame_Shift_Ins_p.Q190fs|RGS7_ENST00000401882.1_Frame_Shift_Ins_p.Q137fs|RGS7_ENST00000331110.7_Frame_Shift_Ins_p.Q164fs	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	190					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTGGCTGTCAAGGATCTTCC	0.465													79	17	---	---	---	---					A	241031929	-	A	241031928	7	5	43	1	0	1	1	0	0	0	0	0	13393	826	29	0	935	0	RGS7	1	241031928	Frame_Shift_Ins	INS	-	TCGA-BB-7862-01A-21D-2229-08	375590	241031928	8218693	46	7945											
OR1C1	26188	broad.mit.edu	37	chr1	247920886	247920886	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccattgaatacatgatggTtgacagagtgtcgctctcag	11	11	10	9	1	1	4	1	3	1	1	3	4	1	4	1	1	1	2	1	1	2	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:247920886T>A	ENST00000408896.2	-	1	1096	c.823A>T	c.(823-825)Acc>Tcc	p.T275S		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TACATGATGGTTGACAGAGTG	0.498													67	40					0	0	0	0	A	247920886	T	A	247920886	3	1	43	1	0	0	0	0	1	0	0	0	11023	1725	60	5	123	5	OR1C1	1	247920886	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	6888958	247920886	1329735	47	7946											
OR1C1	26188	broad.mit.edu	37	chr1	247921680	247921680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagaaggacgaattccCtgacaactgttagatttctt	11	12	8	10	1	1	3	0	1	1	2	3	5	3	4	2	1	1	1	2	1	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:247921680C>T	ENST00000408896.2	-	1	302	c.29G>A	c.(28-30)aGg>aAg	p.R10K		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GACGAATTCCCTGACAACTGT	0.408													16	6					0	0	0	0	T	247921680	C	T	247921680	3	4	43	1	0	0	0	0	1	0	0	0	11023	681	24	4	917	4	OR1C1	1	247921680	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	794	247921680	1328941	48	7947											
OR2AK2	391191	broad.mit.edu	37	chr1	248128997	248128997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgtatgtgttcttggccCttggtggaactgaagccctt	8	13	11	9	1	1	1	0	1	1	0	1	2	1	2	2	3	3	2	2	3	4	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:248128997C>A	ENST00000366480.3	+	1	463	c.364C>A	c.(364-366)Ctt>Att	p.L122I	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTTCTTGGCCCTTGGTGGAAC	0.443													182	147					2.03721e-84	3.07613e-84	1	0	A	248128997	C	A	248128997	3	1	43	1	0	0	0	0	1	0	0	0	11057	681	24	4	366	4	OR2AK2	1	248128997	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	207317	248128997	1121624	49	7948											
OR2M2	391194	broad.mit.edu	37	chr1	248343571	248343571	+	Frame_Shift_Del	DEL	C	C	-																															cagcaagtccatttctatggCtggttgtgtcacacaaattt																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:248343571delC	ENST00000359682.2	+	1	284	c.284delC	c.(283-285)gtfs	p.A95fs		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTATGGCTGGTTGTGTC	0.463													83	337	---	---	---	---					-	248343571	C	-	248343571	7	5	43	1	0	1	0	1	0	0	0	0	11081	797	28	0	286	0	OR2M2	1	248343571	Frame_Shift_Del	DEL	C	TCGA-BB-7862-01A-21D-2229-08	214574	248343571	907050	50	7949											
OR2M3	127062	broad.mit.edu	37	chr1	248367188	248367188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccaacacaggacaagatGgtgtctgtattctacaccat	12	10	7	12	0	2	1	0	0	2	1	3	2	3	2	3	2	2	1	3	2	4	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:248367188G>T	ENST00000456743.1	+	1	857	c.819G>T	c.(817-819)atG>atT	p.M273I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGGACAAGATGGTGTCTGTAT	0.493													193	22					1.11282e-78	1.67555e-78	1	0	T	248367188	G	T	248367188	3	4	43	1	0	0	0	0	1	0	0	0	11082	1348	47	4	821	4	OR2M3	1	248367188	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	23617	248367188	883433	51	7950											
GREB1	9687	broad.mit.edu	37	chr2	11728900	11728900	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aacttcccttacctctgtggGaacctgaatgacgtcgtggt	8	12	10	11	2	1	2	0	2	1	0	3	3	2	3	3	2	3	0	3	2	4	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:11728900G>C	ENST00000381486.2	+	10	1488	c.1188G>C	c.(1186-1188)ggG>ggC	p.G396G	GREB1_ENST00000234142.5_Silent_p.G396G|GREB1_ENST00000381483.2_Silent_p.G396G	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	396						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACCTCTGTGGGAACCTGAATG	0.572													33	43					0	0	0	0	C	11728900	G	C	11728900	2	2	43	1	0	0	0	0	0	0	0	1	6810	1161	41	2		2	GREB1	2	11728900	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08		11728900	231470473	52	7951											
IFT172	26160	broad.mit.edu	37	chr2	27670692	27670692	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaccaggttgaagaggAcatctcgaagatcagcccag	12	7	10	12	1	3	3	2	1	1	2	5	5	4	4	3	2	1	1	3	2	2	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:27670692A>T	ENST00000260570.3	-	41	4629	c.4526T>A	c.(4525-4527)gTc>gAc	p.V1509D		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1509					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTTGAAGAGGACATCTCGAAG	0.458													14	51					0	0	0	0	T	27670692	A	T	27670692	3	4	43	1	0	0	0	0	1	0	0	0	7610	275	10	5	755	5	IFT172	2	27670692	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	15941792	27670692	215528681	53	7952											
C2orf71	388939	broad.mit.edu	37	chr2	29296561	29296561	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggctggagtgtagataGgtgtaagcctgctggtgggc	8	9	19	5	0	0	2	0	0	0	2	0	4	0	3	1	5	2	4	1	5	3	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:29296561G>T	ENST00000331664.5	-	1	566	c.567C>A	c.(565-567)acC>acA	p.T189T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	189					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGTGTAGATAGGTGTAAGCCT	0.562													33	52					2.85442e-18	3.80111e-18	1	0	T	29296561	G	T	29296561	2	4	43	1	0	0	0	0	0	0	0	1	2211	987	35	4		4	C2orf71	2	29296561	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1625869	29296561	213902812	54	7953											
MAP4K3	8491	broad.mit.edu	37	chr2	39499427	39499427	+	Frame_Shift_Del	DEL	G	G	-																															taaggatgtacccttaccttGgcagtattctgtcagggagt																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:39499427delG	ENST00000263881.3	-	26	2294	c.1970delC	c.(1969-1971)cafs	p.P657fs	MAP4K3_ENST00000536018.1_Frame_Shift_Del_p.P210fs|MAP4K3_ENST00000341681.5_Frame_Shift_Del_p.P636fs|MAP4K3_ENST00000437545.1_Frame_Shift_Del_p.P573fs	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	657	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CCCTTACCTTGGCAGTATTCT	0.358													16	36	---	---	---	---					-	39499427	G	-	39499427	7	5	43	1	0	1	0	1	0	0	0	0	9330	1348	47	0	750	0	MAP4K3	2	39499427	Frame_Shift_Del	DEL	G	TCGA-BB-7862-01A-21D-2229-08	10202866	39499427	203699946	55	7954											
EPAS1	2034	broad.mit.edu	37	chr2	46574193	46574193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcgaacacacaagctcCtctcctcaggtaaggccagc	10	7	8	16	1	2	0	1	0	1	0	5	1	4	0	4	2	4	2	4	2	3	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:46574193C>T	ENST00000263734.3	+	2	718	c.208C>T	c.(208-210)Ctc>Ttc	p.L70F	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	70					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACACAAGCTCCTCTCCTCAGG	0.602													25	40					0	0	0	0	T	46574193	C	T	46574193	3	4	43	1	0	0	0	0	1	0	0	0	5188	681	24	4	214	4	EPAS1	2	46574193	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	7074766	46574193	196625180	56	7955											
DYSF	8291	broad.mit.edu	37	chr2	71797013	71797013	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggtgtttgagaaccagacCcggcttcccggaggccagtg	8	7	15	11	2	0	2	0	1	0	2	1	5	1	3	4	4	1	2	4	4	1	2	rs148531939		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:71797013C>A	ENST00000258104.3	+	27	3151	c.2874C>A	c.(2872-2874)acC>acA	p.T958T	DYSF_ENST00000410020.3_Silent_p.T976T|DYSF_ENST00000409762.1_Silent_p.T975T|DYSF_ENST00000429174.2_Silent_p.T958T|DYSF_ENST00000409744.1_Silent_p.T945T|DYSF_ENST00000394120.2_Silent_p.T959T|DYSF_ENST00000409582.3_Silent_p.T975T|DYSF_ENST00000409366.1_Silent_p.T959T|DYSF_ENST00000410041.1_Silent_p.T976T|DYSF_ENST00000413539.2_Silent_p.T989T|DYSF_ENST00000409651.1_Silent_p.T990T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	958						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGAACCAGACCCGGCTTCCCG	0.577													6	15					6.5536e-12	8.11544e-12	1	0	A	71797013	C	A	71797013	2	1	43	1	0	0	0	0	0	0	0	1	4895	610	22	4		4	DYSF	2	71797013	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	25222820	71797013	171402360	57	7956											
LRRTM4	80059	broad.mit.edu	37	chr2	77746670	77746670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattaattctttcagtctacGgatcccttgaaatgcatctt	11	16	5	9	1	4	1	1	1	3	0	5	2	5	2	1	1	2	1	1	1	4	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:77746670G>A	ENST00000409088.3	-	3	739	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	LRRTM4_ENST00000409884.1_Missense_Mutation_p.R109C|LRRTM4_ENST00000409093.1_Missense_Mutation_p.R109C|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R110C|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R110C	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	109						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTCAGTCTACGGATCCCTTGA	0.398													12	38					0	0	0	0	A	77746670	G	A	77746670	3	1	43	1	0	0	0	0	1	0	0	0	9106	1116	39	1	1461	1	LRRTM4	2	77746670	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	5949657	77746670	165452703	58	7957											
CTNNA2	1496	broad.mit.edu	37	chr2	80801322	80801322	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaacaagtagaggttgcCattgaagccctgagtgccaa	12	8	12	9	0	0	4	0	3	0	1	0	4	0	4	3	1	4	3	3	1	5	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:80801322C>A	ENST00000466387.1	+	17	2500	c.1776C>A	c.(1774-1776)gcC>gcA	p.A592A	CTNNA2_ENST00000402739.4_Silent_p.A592A|CTNNA2_ENST00000361291.4_Silent_p.A626A|CTNNA2_ENST00000540488.1_Silent_p.A592A|CTNNA2_ENST00000343114.3_Silent_p.A271A|CTNNA2_ENST00000496558.1_Silent_p.A592A|CTNNA2_ENST00000541047.1_Silent_p.A592A			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	592					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TAGAGGTTGCCATTGAAGCCC	0.478													37	48					3.33393e-15	4.29923e-15	1	0	A	80801322	C	A	80801322	2	1	43	1	0	0	0	0	0	0	0	1	4045	581	21	4		4	CTNNA2	2	80801322	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	3054652	80801322	162398051	59	7958											
CNGA3	1261	broad.mit.edu	37	chr2	99013556	99013556	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctccctggacaccctgcaGaccaggtttgcacgcctcct	6	9	8	18	1	0	1	0	0	0	1	3	2	3	2	6	2	2	3	6	2	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:99013556G>C	ENST00000393504.1	+	8	2340	c.1923G>C	c.(1921-1923)caG>caC	p.Q641H	CNGA3_ENST00000409937.1_Missense_Mutation_p.Q645H|CNGA3_ENST00000436404.2_Missense_Mutation_p.Q623H|CNGA3_ENST00000272602.2_Missense_Mutation_p.Q641H	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	641					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACACCCTGCAGACCAGGTTTG	0.612													8	28					0	0	0	0	C	99013556	G	C	99013556	3	2	43	1	0	0	0	0	1	0	0	0	3628	933	33	2	1949	2	CNGA3	2	99013556	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	18212234	99013556	144185817	60	7959											
AFF3	3899	broad.mit.edu	37	chr2	100209870	100209870	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttagaggggagagaagttcGttccggccaaaggggaccag	11	7	16	7	2	0	2	0	0	0	2	2	5	1	4	3	5	0	2	3	5	3	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:100209870G>C	ENST00000317233.4	-	14	2488	c.2253C>G	c.(2251-2253)aaC>aaG	p.N751K	AFF3_ENST00000356421.2_Missense_Mutation_p.N776K|AFF3_ENST00000409236.1_Missense_Mutation_p.N751K|AFF3_ENST00000409579.1_Missense_Mutation_p.N776K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	751					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGAGAAGTTCGTTCCGGCCAA	0.582													21	44					0	0	0	0	C	100209870	G	C	100209870	3	2	43	1	0	0	0	0	1	0	0	0	358	1136	40	3	1471	3	AFF3	2	100209870	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1196314	100209870	142989503	61	7960											
RANBP2	5903	broad.mit.edu	37	chr2	109381511	109381511	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcttgtcagaatccgAgaaaacagagtctacctgct	11	10	10	10	1	2	3	1	0	1	3	3	4	3	3	2	0	5	3	2	0	4	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:109381511A>G	ENST00000283195.6	+	20	4642	c.4516A>G	c.(4516-4518)Aga>Gga	p.R1506G		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1506					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCAGAATCCGAGAAAACAGAG	0.403													27	70					0	0	0	0	G	109381511	A	G	109381511	3	3	43	1	0	0	0	0	1	0	0	0	13110	296	11	5	4594	5	RANBP2	2	109381511	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	9171641	109381511	133817862	62	7961											
MERTK	10461	broad.mit.edu	37	chr2	112758861	112758861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcggcgagccattgaacttaCctgtaagttgactttcattt	9	15	8	9	2	1	2	1	2	0	0	2	3	1	2	2	1	3	2	2	1	3	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:112758861C>G	ENST00000295408.4	+	11	1945	c.1688C>G	c.(1687-1689)aCc>aGc	p.T563S	MERTK_ENST00000409780.1_Missense_Mutation_p.T387S|MERTK_ENST00000421804.2_Missense_Mutation_p.T563S			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	563					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATTGAACTTACCTGTAAGTTG	0.368													10	29					0	0	0	0	G	112758861	C	G	112758861	3	3	43	1	0	0	0	0	1	0	0	0	9548	507	18	4	1730	4	MERTK	2	112758861	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	3377350	112758861	130440512	63	7962											
THSD7B	80731	broad.mit.edu	37	chr2	138414380	138414380	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccaggagactgccatttaAcagaatggtcagagtggagc	12	8	13	8	0	1	3	1	0	0	3	2	5	2	4	2	3	3	0	2	3	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:138414380A>T	ENST00000409968.1	+	23	4298	c.4120A>T	c.(4120-4122)Aca>Tca	p.T1374S	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T1377S|THSD7B_ENST00000413152.2_Missense_Mutation_p.T1346S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGCCATTTAACAGAATGGTC	0.468													14	11					0	0	0	0	T	138414380	A	T	138414380	3	4	43	1	0	0	0	0	1	0	0	0	15974	43	2	5	4118	5	THSD7B	2	138414380	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	25655519	138414380	104784993	64	7963											
LRP1B	53353	broad.mit.edu	37	chr2	141108534	141108534	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttgttgatgatcgccActgtagttgaatggatatat	12	15	10	4	1	0	3	0	3	0	0	1	5	0	4	1	1	0	3	1	1	5	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:141108534A>C	ENST00000389484.3	-	77	12695	c.11724T>G	c.(11722-11724)agT>agG	p.S3908R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3908					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATGATCGCCACTGTAGTTGA	0.308										TSP Lung(27;0.18)			19	58					0	0	0	0	C	141108534	A	C	141108534	3	2	43	1	0	0	0	0	1	0	0	0	9019	156	6	5	2135	5	LRP1B	2	141108534	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	2694154	141108534	102090839	65	7964											
ACVR1	90	broad.mit.edu	37	chr2	158617405	158617405	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacctaccattgctcaccatCcgcctggccacttcccacaa	9	9	4	19	1	1	0	1	0	0	0	3	0	3	0	7	1	3	1	7	1	3	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:158617405C>T	ENST00000263640.3	-	9	1680	c.1251G>A	c.(1249-1251)cgG>cgA	p.R417R	ACVR1_ENST00000409283.2_Silent_p.R417R|ACVR1_ENST00000410057.2_Silent_p.R417R|ACVR1_ENST00000434821.1_Silent_p.R417R	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	417	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TGCTCACCATCCGCCTGGCCA	0.408													20	27					0	0	0	0	T	158617405	C	T	158617405	2	4	43	1	0	0	0	0	0	0	0	1	220	842	30	2		2	ACVR1	2	158617405	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	17508871	158617405	84581968	66	7965											
FAP	2191	broad.mit.edu	37	chr2	163076364	163076364	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaaatttaaacacttactAatttactcccaacaggcgac	17	10	3	11	1	0	0	0	0	0	0	1	1	1	0	1	1	4	0	1	1	8	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:163076364A>T	ENST00000188790.4	-	7	692	c.486_splice	c.e7+1	p.L162_splice	FAP_ENST00000443424.1_Splice_Site_p.L137_splice	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	162					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.L162*(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AACACTTACTAATTTACTCCC	0.328													14	19					0	0	0	0	T	163076364	A	T	163076364	5	4	43	1	0	0	0	0	0	0	1	0	5718	376	13	5	1877	5	FAP	2	163076364	Splice_Site	SNP	A	TCGA-BB-7862-01A-21D-2229-08	4458959	163076364	80123009	67	7966											
SCN3A	6328	broad.mit.edu	37	chr2	165946938	165946938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagataacatctgaaattacGctgaatgatagcggcagaca	17	8	9	7	2	1	5	0	3	1	2	1	5	1	5	0	1	3	2	0	1	6	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:165946938G>T	ENST00000360093.3	-	28	6216	c.5725C>A	c.(5725-5727)Cgt>Agt	p.R1909S	SCN3A_ENST00000283254.7_Missense_Mutation_p.R1909S|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Missense_Mutation_p.R392S|SCN3A_ENST00000409101.3_Missense_Mutation_p.R1860S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1909	IQ.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTGAAATTACGCTGAATGATA	0.358													14	20					1.5842e-08	1.79791e-08	1	0	T	165946938	G	T	165946938	3	4	43	1	0	0	0	0	1	0	0	0	14005	1087	38	3	281	3	SCN3A	2	165946938	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2870574	165946938	77252435	68	7967											
SCN7A	6332	broad.mit.edu	37	chr2	167330398	167330398	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaataaacagttggaaaaaGgtagcttatagtcaaggaat	19	9	10	3	0	1	1	1	0	0	1	1	3	1	3	0	3	2	3	0	3	10	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:167330398G>C	ENST00000409855.1	-	4	480	c.353_splice	c.e4-1	p.P118_splice		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	118					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GTTGGAAAAAGGTAGCTTATA	0.259													11	18					0	0	0	0	C	167330398	G	C	167330398	5	2	43	1	0	0	0	0	0	0	1	0	14010	1014	35	4	4782	4	SCN7A	2	167330398	Splice_Site	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1383460	167330398	75868975	69	7968											
ABCB11	8647	broad.mit.edu	37	chr2	169814479	169814479	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctgtgtacttaccccaaGaatctggctgaataaaaagg	14	9	9	9	0	1	2	0	1	1	1	1	2	1	2	2	2	3	3	2	2	8	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:169814479G>C	ENST00000263817.6	-	19	2462	c.2338C>G	c.(2338-2340)Ctt>Gtt	p.L780V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	780	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTTACCCCAAGAATCTGGCTG	0.423													8	15					0	0	0	0	C	169814479	G	C	169814479	3	2	43	1	0	0	0	0	1	0	0	0	42	942	33	2	1667	2	ABCB11	2	169814479	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2484081	169814479	73384894	70	7969											
LRP2	4036	broad.mit.edu	37	chr2	170030530	170030530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattagcacaccgaaactggCccggccggcaggtcctgctg	8	6	12	15	3	0	0	0	0	0	0	1	1	1	0	4	4	3	3	4	4	2	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:170030530C>T	ENST00000263816.3	-	56	11198	c.10913G>A	c.(10912-10914)gGc>gAc	p.G3638D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3638	LDL-receptor class A 29.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCGAAACTGGCCCGGCCGGCA	0.547													25	33					0	0	0	0	T	170030530	C	T	170030530	3	4	43	1	0	0	0	0	1	0	0	0	9020	739	26	4	3150	4	LRP2	2	170030530	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	216051	170030530	73168843	71	7970											
AGPS	8540	broad.mit.edu	37	chr2	178364423	178364423	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgagaaggttcttcaacaTgaaaaacaagtgtatgatat	16	11	9	5	1	2	3	1	3	1	1	2	4	2	3	0	1	2	2	0	1	7	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:178364423T>A	ENST00000264167.4	+	14	1586	c.1440T>A	c.(1438-1440)caT>caA	p.H480Q	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	480					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTCTTCAACATGAAAAACAAG	0.338													23	40					0	0	0	0	A	178364423	T	A	178364423	3	1	43	1	0	0	0	0	1	0	0	0	394	1461	51	5	1494	5	AGPS	2	178364423	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	8333893	178364423	64834950	72	7971											
TTN	7273	broad.mit.edu	37	chr2	179497260	179497260	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaactatttaccttcaatGatcagtttgccacttgtgtg	11	16	6	8	0	2	1	2	1	0	0	2	1	2	1	2	0	3	1	2	0	5	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:179497260G>A	ENST00000589042.1	-	235	43697	c.43473C>T	c.(43471-43473)atC>atT	p.I14491I	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I5551I|TTN_ENST00000460472.2_Silent_p.I5426I|TTN_ENST00000342175.6_Silent_p.I5618I|TTN_ENST00000342992.6_Silent_p.I11923I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.I12850I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12850	Fibronectin type-III 4.						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)			TACCTTCAATGATCAGTTTGC	0.323													11	44					0	0	0	0	A	179497260	G	A	179497260	2	1	43	1	0	0	0	0	0	0	0	1	16831	1280	45	2		2	TTN	2	179497260	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1132837	179497260	63702113	73	7972											
TTN	7273	broad.mit.edu	37	chr2	179549638	179549638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaatccaatatacctttaGgtgggggcaccttttccttt	10	15	7	9	0	0	0	0	0	0	0	2	0	2	0	4	3	1	1	4	3	6	8			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:179549638G>T	ENST00000589042.1	-	130	32773	c.32549C>A	c.(32548-32550)cCt>cAt	p.P10850H	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P9606H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10533H|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10533	Glu-rich.|Pro-rich.						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)			TATACCTTTAGGTGGGGGCAC	0.313													6	7					3.59834e-05	3.86056e-05	1	0	T	179549638	G	T	179549638	3	4	43	1	0	0	0	0	1	0	0	0	16831	1000	35	4	71912	4	TTN	2	179549638	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	52378	179549638	63649735	74	7973											
CCDC141	285025	broad.mit.edu	37	chr2	179702443	179702443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcccctgttccattgatgCccaaaagatctgccacctgc	8	11	6	16	0	1	2	0	1	1	1	3	2	3	2	6	0	3	1	6	0	2	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:179702443C>A	ENST00000420890.2	-	23	3620	c.3503G>T	c.(3502-3504)gGc>gTc	p.G1168V	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.G593V	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	593							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCCATTGATGCCCAAAAGATC	0.468													27	48					2.49534e-26	3.54566e-26	1	0	A	179702443	C	A	179702443	3	1	43	1	0	0	0	0	1	0	0	0	2800	739	26	4	853	4	CCDC141	2	179702443	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	152805	179702443	63496930	75	7974											
NRP2	8828	broad.mit.edu	37	chr2	206659496	206659496	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgaatacgaggtggactGgagcaattcttcttctgcaa	12	11	11	7	1	3	2	0	1	3	1	3	5	3	4	0	3	3	2	0	3	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:206659496G>A	ENST00000360409.3	+	17	3301	c.2510G>A	c.(2509-2511)tGg>tAg	p.W837*	NRP2_ENST00000540178.1_Nonsense_Mutation_p.W832*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.W815*|NRP2_ENST00000357785.5_Nonsense_Mutation_p.W832*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.W815*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	837					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAGGTGGACTGGAGCAATTCT	0.532													33	75					0	0	0	0	A	206659496	G	A	206659496	4	1	43	1	0	0	0	0	0	1	0	0	10732	1357	47	4	2888	4	NRP2	2	206659496	Nonsense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	26957053	206659496	36539877	76	7975											
ABCB6	10058	broad.mit.edu	37	chr2	220079138	220079138	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttagcagagagtccacTgctcgtgcccgggtagcgtt	8	10	13	10	3	0	1	0	0	0	1	2	2	1	1	2	1	4	5	2	1	3	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:220079138T>A	ENST00000265316.3	-	7	1675	c.1359A>T	c.(1357-1359)gcA>gcT	p.A453A	ABCB6_ENST00000439002.2_Silent_p.A407A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	453	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGAGTCCACTGCTCGTGCCC	0.577													25	37					0	0	0	0	A	220079138	T	A	220079138	2	1	43	1	0	0	0	0	0	0	0	1	45	1567	55	5		5	ABCB6	2	220079138	Silent	SNP	T	TCGA-BB-7862-01A-21D-2229-08	13419642	220079138	23120235	77	7976											
PTPRN	5798	broad.mit.edu	37	chr2	220161532	220161532	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccaccttcagttttatgCgggcatggtcatctgcacag	7	13	9	12	1	4	0	2	0	2	0	5	0	4	0	2	2	2	3	2	2	1	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:220161532C>G	ENST00000295718.2	-	16	2489	c.2249G>C	c.(2248-2250)cGc>cCc	p.R750P	PTPRN_ENST00000423636.2_Missense_Mutation_p.R660P|PTPRN_ENST00000409251.3_Missense_Mutation_p.R721P	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	750	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGTTTTATGCGGGCATGGTC	0.617													11	27					0	0	0	0	G	220161532	C	G	220161532	3	3	43	1	0	0	0	0	1	0	0	0	12889	768	27	3	722	3	PTPRN	2	220161532	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	82394	220161532	23037841	78	7977											
FARSB	10056	broad.mit.edu	37	chr2	223464699	223464699	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaccaggaggcacatcGagcaactgcataattctgtc	11	10	8	12	1	3	0	1	0	2	0	5	2	3	1	1	2	3	3	1	2	2	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:223464699G>T	ENST00000281828.6	-	16	1829	c.1566C>A	c.(1564-1566)ctC>ctA	p.L522L	FARSB_ENST00000536361.1_Silent_p.L423L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	522					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GAGGCACATCGAGCAACTGCA	0.453													42	64					8.16904e-11	9.83998e-11	1	0	T	223464699	G	T	223464699	2	4	43	1	0	0	0	0	0	0	0	1	5725	1045	37	3		3	FARSB	2	223464699	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	3303167	223464699	19734674	79	7978											
SCG2	7857	broad.mit.edu	37	chr2	224463478	224463478	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtttaaaggggttatcccTggaattctcttcatacatag	10	14	9	8	1	2	0	1	0	1	0	4	1	3	1	1	3	1	2	1	3	6	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:224463478T>C	ENST00000305409.2	-	2	755	c.523A>G	c.(523-525)Agg>Ggg	p.R175G		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	175					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGGTTATCCCTGGAATTCTCT	0.423													51	51					0	0	0	0	C	224463478	T	C	224463478	3	2	43	1	0	0	0	0	1	0	0	0	13977	1579	55	5	1334	5	SCG2	2	224463478	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	998779	224463478	18735895	80	7979											
CAPN10	11132	broad.mit.edu	37	chr2	241534667	241534667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacagtcatacttcgtggagCccagcgagcatcccgggcaa	10	6	12	13	3	1	0	1	0	0	0	3	3	2	1	2	2	4	2	2	2	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:241534667C>G	ENST00000391984.2	+	7	1420	c.1224C>G	c.(1222-1224)agC>agG	p.S408R	CAPN10_ENST00000391982.2_Missense_Mutation_p.S408R|CAPN10_ENST00000354082.4_Missense_Mutation_p.S408R|CAPN10_ENST00000404753.3_Missense_Mutation_p.S408R|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	408	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CTTCGTGGAGCCCAGCGAGCA	0.652													18	26					0	0	0	0	G	241534667	C	G	241534667	3	3	43	1	0	0	0	0	1	0	0	0	2648	738	26	4	1250	4	CAPN10	2	241534667	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	17071189	241534667	1664706	81	7980											
KIF1A	547	broad.mit.edu	37	chr2	241706693	241706693	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctctcacctggtgatccCatccttgatgtagtagagca	8	11	8	14	0	1	3	1	2	1	1	4	3	3	3	5	1	1	3	5	1	2	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:241706693C>A	ENST00000498729.2	-	18	1813	c.1567G>T	c.(1567-1569)Ggg>Tgg	p.G523W	KIF1A_ENST00000320389.7_Missense_Mutation_p.G514W	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	514	FHA.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTGGTGATCCCATCCTTGATG	0.602													7	12					8.12818e-05	8.58155e-05	1	0	A	241706693	C	A	241706693	3	1	43	1	0	0	0	0	1	0	0	0	8334	594	21	4	3656	4	KIF1A	2	241706693	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	172026	241706693	1492680	82	7981											
SCN10A	6336	broad.mit.edu	37	chr3	38781085	38781085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcacagtgacgatgatgCagtcaaagatattccacttc	13	10	8	10	1	2	3	2	2	0	1	4	5	3	3	1	0	1	1	1	0	2	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:38781085C>G	ENST00000449082.2	-	14	2200	c.2201G>C	c.(2200-2202)tGc>tCc	p.C734S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	734					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GACGATGATGCAGTCAAAGAT	0.448													20	6					0	0	0	0	G	38781085	C	G	38781085	3	3	43	1	0	0	0	0	1	0	0	0	13999	710	25	4	3725	4	SCN10A	3	38781085	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08		38781085	159241345	83	7982											
PBRM1	55193	broad.mit.edu	37	chr3	52613197	52613197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccattggacatttccaCagggacatcttctttttcct	8	16	5	12	0	3	0	1	0	2	0	5	2	5	2	3	2	0	0	3	2	0	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:52613197C>A	ENST00000356770.4	-	20	3312	c.3310G>T	c.(3310-3312)Gtg>Ttg	p.V1104L	PBRM1_ENST00000409114.3_Missense_Mutation_p.V1151L|PBRM1_ENST00000394830.3_Missense_Mutation_p.V1111L|PBRM1_ENST00000409057.1_Missense_Mutation_p.V1136L|PBRM1_ENST00000337303.4_Missense_Mutation_p.V1136L|PBRM1_ENST00000410007.1_Missense_Mutation_p.V1111L|SMIM4_ENST00000476842.1_3'UTR|PBRM1_ENST00000296302.7_Missense_Mutation_p.V1136L|PBRM1_ENST00000409767.1_Missense_Mutation_p.V1151L			Q86U86	PB1_HUMAN	polybromo 1	1136					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GACATTTCCACAGGGACATCT	0.423			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								38	9					1.96642e-18	2.63849e-18	1	0	A	52613197	C	A	52613197	3	1	43	1	0	0	0	0	1	0	0	0	11562	478	17	4	1534	4	PBRM1	3	52613197	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	13832112	52613197	145409233	84	7983											
MAGI1	9223	broad.mit.edu	37	chr3	65428515	65428515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaatcttttcccaaccaGcaggcagttctgaaaaataa	14	11	5	11	0	3	1	1	1	2	0	4	1	4	1	2	1	2	3	2	1	5	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:65428515G>A	ENST00000330909.8	-	8	1087	c.1088C>T	c.(1087-1089)gCt>gTt	p.A363V	MAGI1_ENST00000402939.2_Missense_Mutation_p.A363V|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.A363V|MAGI1_ENST00000497477.2_Missense_Mutation_p.A363V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	363	WW 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTCCCAACCAGCAGGCAGTTC	0.378													34	13					0	0	0	0	A	65428515	G	A	65428515	3	1	43	1	0	0	0	0	1	0	0	0	9259	971	34	4	3598	4	MAGI1	3	65428515	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	12815318	65428515	132593915	85	7984											
TMF1	7110	broad.mit.edu	37	chr3	69073259	69073259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccttctcttcaagttcatCattttgatttgttaatttaa	10	20	3	8	0	4	1	3	1	1	0	5	1	4	1	1	0	0	2	1	0	3	9			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:69073259C>T	ENST00000543976.1	-	16	3340	c.3094G>A	c.(3094-3096)Gat>Aat	p.D1032N	TMF1_ENST00000398559.2_Missense_Mutation_p.D1029N|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	1029					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.D1029N(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCAAGTTCATCATTTTGATTT	0.323													17	9					0	0	0	0	T	69073259	C	T	69073259	3	4	43	1	0	0	0	0	1	0	0	0	16322	826	29	2	204	2	TMF1	3	69073259	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	3644744	69073259	128949171	86	7985											
CADM2	253559	broad.mit.edu	37	chr3	86010637	86010637	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggccagaacctgttttgtgGacaaaggatggcggagaatt	12	9	14	6	1	0	2	0	0	0	2	0	5	0	4	2	5	1	1	2	5	3	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:86010637G>C	ENST00000383699.3	+	8	1437	c.810G>C	c.(808-810)tgG>tgC	p.W270C	CADM2_ENST00000407528.2_Missense_Mutation_p.W261C|CADM2_ENST00000405615.2_Missense_Mutation_p.W263C	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	261	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGTTTTGTGGACAAAGGATG	0.348													31	17					0	0	0	0	C	86010637	G	C	86010637	3	2	43	1	0	0	0	0	1	0	0	0	2592	1183	41	2	880	2	CADM2	3	86010637	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	16937378	86010637	112011793	87	7986											
BBX	56987	broad.mit.edu	37	chr3	107492462	107492462	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagggcatgctcacctctCtgcgagctaatgttgacaga	9	10	11	11	1	2	3	1	2	1	1	3	4	2	3	1	1	3	4	1	1	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:107492462C>A	ENST00000415149.2	+	11	2221	c.1894C>A	c.(1894-1896)Ctg>Atg	p.L632M	BBX_ENST00000406780.1_Missense_Mutation_p.L632M|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.L632M|BBX_ENST00000402543.1_Missense_Mutation_p.L632M	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GCTCACCTCTCTGCGAGCTAA	0.413													15	19					7.93312e-07	8.79614e-07	1	0	A	107492462	C	A	107492462	3	1	43	1	0	0	0	0	1	0	0	0	1347	912	32	2	1924	2	BBX	3	107492462	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	21481825	107492462	90529968	88	7987											
GUCA1C	9626	broad.mit.edu	37	chr3	108635029	108635029	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatgaattcttcaggactCagagtttgctggccattgag	9	14	11	7	0	3	4	2	3	1	1	3	5	3	5	1	2	1	2	1	2	1	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:108635029C>G	ENST00000261047.3	-	3	519	c.387G>C	c.(385-387)ctG>ctC	p.L129L	GUCA1C_ENST00000471108.1_Silent_p.L129L|GUCA1C_ENST00000393963.3_Silent_p.L129L	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	129					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						CTTCAGGACTCAGAGTTTGCT	0.398													24	44					0	0	0	0	G	108635029	C	G	108635029	2	3	43	1	0	0	0	0	0	0	0	1	6940	813	29	2		2	GUCA1C	3	108635029	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1142567	108635029	89387401	89	7988											
DPPA2	151871	broad.mit.edu	37	chr3	109023501	109023501	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagtctgccatggacCacacaccacctgacgcctgg	11	5	11	14	1	1	2	0	1	1	1	1	5	1	3	5	2	1	0	5	2	1	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:109023501C>A	ENST00000478945.1	-	7	921	c.675G>T	c.(673-675)gtG>gtT	p.V225V		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	225						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCCATGGACCACACACCACC	0.498													12	30					5.50884e-06	6.0324e-06	1	0	A	109023501	C	A	109023501	2	1	43	1	0	0	0	0	0	0	0	1	4770	581	21	4		4	DPPA2	3	109023501	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	388472	109023501	88998929	90	7989											
LSAMP	4045	broad.mit.edu	37	chr3	115805400	115805400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttcttgtcttctacaacGcacctgacagagcagagtaa	12	10	9	10	1	3	3	0	1	3	2	3	4	3	3	1	0	3	4	1	0	3	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:115805400G>A	ENST00000490035.1	-	2	658	c.159C>T	c.(157-159)tgC>tgT	p.C53C	LSAMP_ENST00000539563.1_Silent_p.C50C	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	53	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTTCTACAACGCACCTGACAG	0.448													8	24					0	0	0	0	A	115805400	G	A	115805400	2	1	43	1	0	0	0	0	0	0	0	1	9112	1079	38	1		1	LSAMP	3	115805400	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	6781899	115805400	82217030	91	7990											
ZXDC	79364	broad.mit.edu	37	chr3	126194408	126194408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggctcgccaggttgacacGggagccaggctcggcctcct	5	6	15	15	4	0	1	0	1	0	0	3	2	1	2	4	5	1	3	4	5	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:126194408G>A	ENST00000389709.3	-	1	354	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	ZXDC_ENST00000336332.5_Missense_Mutation_p.R101C	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	101					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		AGGTTGACACGGGAGCCAGGC	0.761													4	14					0	0	0	0	A	126194408	G	A	126194408	3	1	43	1	0	0	0	0	1	0	0	0	18343	1116	39	1	2321	1	ZXDC	3	126194408	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	10389008	126194408	71828022	92	7991											
PLXNA1	5361	broad.mit.edu	37	chr3	126751566	126751566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatgccagccatcagcGaccaggacatgagtgcgtat	12	6	11	12	2	1	2	1	1	0	1	1	4	1	3	4	1	4	1	4	1	2	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:126751566G>T	ENST00000251772.4	+	30	5482	c.5413G>T	c.(5413-5415)Gac>Tac	p.D1805Y	PLXNA1_ENST00000393409.2_Missense_Mutation_p.D1828Y|PLXNA1_ENST00000505278.1_3'UTR			Q9UIW2	PLXA1_HUMAN	plexin A1	1828					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGCCATCAGCGACCAGGACAT	0.612													26	33					4.87955e-14	6.17223e-14	1	0	T	126751566	G	T	126751566	3	4	43	1	0	0	0	0	1	0	0	0	12191	1058	37	3	5600	3	PLXNA1	3	126751566	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	557158	126751566	71270864	93	7992											
EEFSEC	60678	broad.mit.edu	37	chr3	128060317	128060317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattacagtgggccatgaaaCagtcatgggccggttgatgt	10	10	13	8	1	1	2	1	2	0	0	1	2	1	2	2	3	2	1	2	3	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:128060317C>T	ENST00000254730.6	+	5	1082	c.1028C>T	c.(1027-1029)aCa>aTa	p.T343I	EEFSEC_ENST00000483457.1_Missense_Mutation_p.T288I|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	343						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GGCCATGAAACAGTCATGGGC	0.502													27	42					0	0	0	0	T	128060317	C	T	128060317	3	4	43	1	0	0	0	0	1	0	0	0	4967	478	17	4	1046	4	EEFSEC	3	128060317	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1308751	128060317	69962113	94	7993											
CPNE4	131034	broad.mit.edu	37	chr3	131293958	131293958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgatgtagtccaagaaaGaatgcatcttgtgaatctgc	13	11	9	8	0	2	4	0	2	2	2	3	4	3	4	2	0	2	2	2	0	5	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:131293958G>T	ENST00000512055.1	-	14	3010	c.884C>A	c.(883-885)tCt>tAt	p.S295Y	CPNE4_ENST00000511604.1_Missense_Mutation_p.S295Y|CPNE4_ENST00000512332.1_Missense_Mutation_p.S313Y|CPNE4_ENST00000429747.1_Missense_Mutation_p.S295Y|CPNE4_ENST00000502818.1_Missense_Mutation_p.S313Y			Q96A23	CPNE4_HUMAN	copine IV	295										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GTCCAAGAAAGAATGCATCTT	0.418													29	40					1.13719e-10	1.3636e-10	1	0	T	131293958	G	T	131293958	3	4	43	1	0	0	0	0	1	0	0	0	3844	942	33	2	817	2	CPNE4	3	131293958	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	3233641	131293958	66728472	95	7994											
SRPRB	58477	broad.mit.edu	37	chr3	133534498	133534498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaagatgtggctgagtttCtgtatcaagtcctcattgac	10	14	10	7	0	3	4	2	3	1	1	4	4	4	4	1	1	0	3	1	1	3	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:133534498C>G	ENST00000466490.2	+	6	760	c.475C>G	c.(475-477)Ctg>Gtg	p.L159V		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	159						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						GGCTGAGTTTCTGTATCAAGT	0.418													9	188					0	0	0	0	G	133534498	C	G	133534498	3	3	43	1	0	0	0	0	1	0	0	0	15253	912	32	2	493	2	SRPRB	3	133534498	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	2240540	133534498	64487932	96	7995											
CLSTN2	64084	broad.mit.edu	37	chr3	140178481	140178481	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacggcaggcagggtgcCaaagtccccgatgggattgt	8	9	15	9	2	0	1	0	1	0	0	1	3	1	2	3	4	1	2	3	4	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:140178481C>G	ENST00000458420.3	+	7	1282	c.1092C>G	c.(1090-1092)gcC>gcG	p.A364A	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	364					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGCAGGGTGCCAAAGTCCCCG	0.577										HNSCC(16;0.037)			12	14					0	0	0	0	G	140178481	C	G	140178481	2	3	43	1	0	0	0	0	0	0	0	1	3592	581	21	4		4	CLSTN2	3	140178481	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	6643983	140178481	57843949	97	7996											
CLSTN2	64084	broad.mit.edu	37	chr3	140277487	140277487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatgttttcccaggtgctTtggggaagacgtatgcatca	10	12	12	7	1	1	2	1	0	0	2	2	3	2	3	1	3	2	4	1	3	3	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:140277487T>C	ENST00000458420.3	+	12	2019	c.1829T>C	c.(1828-1830)tTt>tCt	p.F610S		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	610					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCCAGGTGCTTTGGGGAAGAC	0.527										HNSCC(16;0.037)			18	37					0	0	0	0	C	140277487	T	C	140277487	3	2	43	1	0	0	0	0	1	0	0	0	3592	1841	64	5	1875	5	CLSTN2	3	140277487	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	99006	140277487	57744943	98	7997											
HLTF	6596	broad.mit.edu	37	chr3	148793756	148793756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacttgatttccattcaCattgtttactttaattgcat	10	18	4	9	0	1	1	1	1	0	0	2	1	2	1	2	0	3	2	2	0	3	9			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:148793756C>T	ENST00000310053.5	-	3	500	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	HLTF_ENST00000494055.1_Missense_Mutation_p.V103M|HLTF_ENST00000465259.1_Missense_Mutation_p.V103M|HLTF_ENST00000392912.2_Missense_Mutation_p.V103M	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	103					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTCCATTCACATTGTTTACT	0.318													13	18					0	0	0	0	T	148793756	C	T	148793756	3	4	43	1	0	0	0	0	1	0	0	0	7265	478	17	4	2814	4	HLTF	3	148793756	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	8516269	148793756	49228674	99	7998											
GPR171	29909	broad.mit.edu	37	chr3	150916479	150916479	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggaacaaagcatatgatgTagcccgtggtcactaaaagt	16	8	10	7	1	1	1	1	1	0	0	1	2	1	2	1	2	3	2	1	2	7	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:150916479T>C	ENST00000309180.5	-	3	925	c.695A>G	c.(694-696)tAc>tGc	p.Y232C	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	232						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCATATGATGTAGCCCGTGGT	0.398													37	45					0	0	0	0	C	150916479	T	C	150916479	3	2	43	1	0	0	0	0	1	0	0	0	6717	1638	57	5	268	5	GPR171	3	150916479	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	2122723	150916479	47105951	100	7999											
P2RY13	53829	broad.mit.edu	37	chr3	151046055	151046055	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagcaaaacacacaaagaaGacagccacgacaacaaatac	22	1	7	11	1	0	2	0	0	0	2	0	4	0	3	1	1	5	1	1	1	7	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:151046055G>A	ENST00000325602.5	-	2	808	c.789C>T	c.(787-789)gtC>gtT	p.V263V	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	263						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			ACACAAAGAAGACAGCCACGA	0.343													34	41					0	0	0	0	A	151046055	G	A	151046055	2	1	43	1	0	0	0	0	0	0	0	1	11421	929	33	2		2	P2RY13	3	151046055	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	129576	151046055	46976375	101	8000											
SI	6476	broad.mit.edu	37	chr3	164735803	164735803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacaccatgagcattgccctCctcttccagagccatgtaat	11	10	6	14	0	1	2	0	1	1	1	3	2	3	2	5	0	4	2	5	0	2	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:164735803C>T	ENST00000264382.3	-	29	3537	c.3475G>A	c.(3475-3477)Gag>Aag	p.E1159K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1159	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCATTGCCCTCCTCTTCCAGA	0.323										HNSCC(35;0.089)			20	35					0	0	0	0	T	164735803	C	T	164735803	3	4	43	1	0	0	0	0	1	0	0	0	14385	864	30	2	2088	2	SI	3	164735803	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	13689748	164735803	33286627	102	8001											
SERPINI1	5274	broad.mit.edu	37	chr3	167508197	167508197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaggagttttcaaacatGgtaactgctaaagagagcca	15	10	10	6	0	1	2	1	1	0	1	1	4	1	3	1	2	4	3	1	2	5	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:167508197G>A	ENST00000295777.5	+	3	719	c.288G>A	c.(286-288)atG>atA	p.M96I	SERPINI1_ENST00000446050.2_Missense_Mutation_p.M96I	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	96					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTTCAAACATGGTAACTGCTA	0.343													22	47					0	0	0	0	A	167508197	G	A	167508197	3	1	43	1	0	0	0	0	1	0	0	0	14205	1348	47	4	294	4	SERPINI1	3	167508197	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2772394	167508197	30514233	103	8002											
TBL1XR1	79718	broad.mit.edu	37	chr3	176744174	176744174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttactgaaccatctgatGcactggctccaactttgtct	9	14	6	12	0	2	2	0	2	2	0	3	2	3	2	2	1	5	2	2	1	4	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:176744174G>A	ENST00000430069.1	-	15	1764	c.1505C>T	c.(1504-1506)gCa>gTa	p.A502V	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.A502V			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	502					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			ACCATCTGATGCACTGGCTCC	0.418													9	16					0	0	0	0	A	176744174	G	A	176744174	3	1	43	1	0	0	0	0	1	0	0	0	15734	1319	46	4	47	4	TBL1XR1	3	176744174	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	9235977	176744174	21278256	104	8003											
FXR1	8087	broad.mit.edu	37	chr3	180630488	180630488	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaacatggcggagctgacGgtggaggttcgcggctctaa	8	8	15	10	4	1	1	0	1	1	0	3	3	2	3	1	6	2	3	1	6	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:180630488G>T	ENST00000357559.4	+	1	399	c.15G>T	c.(13-15)acG>acT	p.T5T	FXR1_ENST00000491062.1_Silent_p.T5T|FXR1_ENST00000445140.2_Silent_p.T5T|FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000491674.1_Silent_p.T5T|FXR1_ENST00000468861.1_5'UTR	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	5					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CGGAGCTGACGGTGGAGGTTC	0.597											OREG0015934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	68	113					1.1794e-34	1.722e-34	1	0	T	180630488	G	T	180630488	2	4	43	1	0	0	0	0	0	0	0	1	6163	1103	39	3		3	FXR1	3	180630488	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	3886314	180630488	17391942	105	8004											
CPN2	1370	broad.mit.edu	37	chr3	194062679	194062679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcggcaggtgcgtgatggcGttgcgttgcagccacagcct	6	8	16	11	4	0	1	0	1	0	0	0	1	0	1	2	3	6	4	2	3	0	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:194062679G>A	ENST00000323830.3	-	2	842	c.753C>T	c.(751-753)aaC>aaT	p.N251N	CPN2_ENST00000429275.1_Silent_p.N251N	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	251					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCGTGATGGCGTTGCGTTGCA	0.602													19	32					0	0	0	0	A	194062679	G	A	194062679	2	1	43	1	0	0	0	0	0	0	0	1	3840	1136	40	1		1	CPN2	3	194062679	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	13432191	194062679	3959751	106	8005											
LRRC15	131578	broad.mit.edu	37	chr3	194080603	194080603	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagctggatggccatgagGccattgacgttggcgaagat	9	9	15	8	2	0	3	0	2	0	1	0	5	0	4	2	4	2	3	2	4	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:194080603G>T	ENST00000347624.3	-	2	1255	c.1170C>A	c.(1168-1170)ggC>ggA	p.G390G	LRRC15_ENST00000428839.1_Silent_p.G396G|LRRC15_ENST00000439944.2_Silent_p.G396G	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	390						integral to membrane		p.G390G(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGGCCATGAGGCCATTGACGT	0.562													5	8					0.248553	0.249022	1	0	T	194080603	G	T	194080603	2	4	43	1	0	0	0	0	0	0	0	1	9034	1190	42	4		4	LRRC15	3	194080603	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	17924	194080603	3941827	107	8006											
ZNF721	170960	broad.mit.edu	37	chr4	435690	435690	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctccagtatgaattctccTatgtacataaaggattgctg	11	14	7	9	0	2	1	0	1	2	0	4	2	2	2	2	1	2	3	2	1	6	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:435690T>A	ENST00000338977.5	-	2	2578	c.2530A>T	c.(2530-2532)Agg>Tgg	p.R844W	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.R856W					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGAATTCTCCTATGTACATAA	0.393													28	45					0	0	0	0	A	435690	T	A	435690	3	1	43	1	0	0	0	0	1	0	0	0	18217	1521	53	5	209	5	ZNF721	4	435690	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08		435690	190718586	108	8007											
MFSD7	84179	broad.mit.edu	37	chr4	680330	680330	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtctgactcaccgccgcacgGagcccgacggagtccaggat	8	5	13	15	5	2	1	1	1	1	0	3	5	3	4	4	3	1	1	4	3	0	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:680330G>A	ENST00000322224.4	-	2	598	c.285C>T	c.(283-285)ctC>ctT	p.L95L	MFSD7_ENST00000347950.5_Silent_p.L73L|MFSD7_ENST00000404286.2_Silent_p.L95L|MFSD7_ENST00000503156.1_Silent_p.L31L|MFSD7_ENST00000515118.1_Silent_p.L95L|MFSD7_ENST00000513740.1_5'UTR			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	95					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CCGCCGCACGGAGCCCGACGG	0.657													49	51					0	0	0	0	A	680330	G	A	680330	2	1	43	1	0	0	0	0	0	0	0	1	9606	1161	41	2		2	MFSD7	4	680330	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	244640	680330	190473946	109	8008											
RGS12	6002	broad.mit.edu	37	chr4	3419261	3419261	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagggagcacggggaccaCgcagacggtttgtggggtgg	9	5	20	7	3	0	2	0	0	0	2	0	4	0	4	1	7	1	3	1	7	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:3419261C>T	ENST00000336727.3	+	9	3658	c.2754C>T	c.(2752-2754)caC>caT	p.H918H	RGS12_ENST00000538395.1_Silent_p.H260H|RGS12_ENST00000306648.7_Silent_p.H316H|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Silent_p.H918H|RGS12_ENST00000344733.5_Silent_p.H918H|RGS12_ENST00000338806.4_Silent_p.H270H	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	918						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACGGGGACCACGCAGACGGTT	0.667													19	29					0	0	0	0	T	3419261	C	T	3419261	2	4	43	1	0	0	0	0	0	0	0	1	13378	535	19	1		1	RGS12	4	3419261	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	2738931	3419261	187735015	110	8009											
MSX1	4487	broad.mit.edu	37	chr4	4864566	4864566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccatcgccgagcgcgCggagttctccagctcgctca	5	8	11	17	6	2	0	1	0	1	0	6	2	3	1	4	1	2	3	4	1	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:4864566C>A	ENST00000382723.4	+	2	842	c.608C>A	c.(607-609)gCg>gAg	p.A203E	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	197					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCGAGCGCGCGGAGTTCTCC	0.627													30	43					2.65835e-16	3.47025e-16	1	0	A	4864566	C	A	4864566	3	1	43	1	0	0	0	0	1	0	0	0	9965	768	27	3	614	3	MSX1	4	4864566	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1445305	4864566	186289710	111	8010											
EVC2	132884	broad.mit.edu	37	chr4	5696066	5696066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttaatacttaccaggCggtgtgttataggagactct	11	13	10	7	1	1	2	0	1	1	1	1	3	1	2	1	3	3	1	1	3	6	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:5696066C>T	ENST00000310917.2	-	3	937	c.206G>A	c.(205-207)cGc>cAc	p.R69H	EVC2_ENST00000344408.5_Missense_Mutation_p.R149H|EVC2_ENST00000344938.1_Missense_Mutation_p.R149H	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	149						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ACTTACCAGGCGGTGTGTTAT	0.393													20	31					0	0	0	0	T	5696066	C	T	5696066	3	4	43	1	0	0	0	0	1	0	0	0	5324	768	27	1	3560	1	EVC2	4	5696066	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	831500	5696066	185458210	112	8011											
TLR6	10333	broad.mit.edu	37	chr4	38829447	38829447	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccagccctctaacacttCacttgatacttggtctatat	10	13	6	12	0	3	1	1	1	2	0	3	1	3	1	2	2	3	0	2	2	4	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:38829447C>A	ENST00000436693.2	-	2	1767	c.1648G>T	c.(1648-1650)Gaa>Taa	p.E550*	TLR6_ENST00000381950.1_Nonsense_Mutation_p.E550*	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	550	LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTAACACTTCACTTGATACT	0.413													113	183					2.66069e-56	3.9948e-56	1	0	A	38829447	C	A	38829447	4	1	43	1	0	0	0	0	0	1	0	0	16049	835	29	2	746	2	TLR6	4	38829447	Nonsense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	33133381	38829447	152324829	113	8012											
GRXCR1	389207	broad.mit.edu	37	chr4	43022383	43022383	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttaatagggtgctgagaaaAttttgtcaatgaatgaatca	15	13	10	3	0	2	3	2	3	0	1	2	4	2	3	0	1	1	2	0	1	7	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:43022383A>T	ENST00000399770.2	+	3	640	c.640A>T	c.(640-642)Att>Ttt	p.I214F		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	214	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGCTGAGAAAATTTTGTCAAT	0.323													14	25					0	0	0	0	T	43022383	A	T	43022383	3	4	43	1	0	0	0	0	1	0	0	0	6862	101	4	5	650	5	GRXCR1	4	43022383	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	4192936	43022383	148131893	114	8013											
YIPF7	285525	broad.mit.edu	37	chr4	44638095	44638095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctgaggctgctcaccagCttgttgtctagaaaaagaaa	13	9	11	8	0	2	3	1	1	1	2	2	3	2	3	1	2	2	5	1	2	4	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:44638095C>T	ENST00000332990.5	-	3	212	c.196G>A	c.(196-198)Gct>Act	p.A66T		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	66						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TGCTCACCAGCTTGTTGTCTA	0.383													7	21					0	0	0	0	T	44638095	C	T	44638095	3	4	43	1	0	0	0	0	1	0	0	0	17579	797	28	4	662	4	YIPF7	4	44638095	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1615712	44638095	146516181	115	8014											
GUF1	60558	broad.mit.edu	37	chr4	44680664	44680664	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccctcgtgggtcggggcTgggggtgcgcacgcgctctc	2	7	19	13	5	1	0	0	0	1	0	4	1	1	1	1	6	1	3	1	6	0	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:44680664T>A	ENST00000281543.5	+	1	219	c.25T>A	c.(25-27)Tgg>Agg	p.W9R	GUF1_ENST00000506793.1_Intron	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	9					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GGGTCGGGGCTGGGGGTGCGC	0.711													4	7					0	0	0	0	A	44680664	T	A	44680664	3	1	43	1	0	0	0	0	1	0	0	0	6949	1580	55	5	27	5	GUF1	4	44680664	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	42569	44680664	146473612	116	8015											
GABRA2	2555	broad.mit.edu	37	chr4	46312211	46312211	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccaaatttcagaggacAtgaatgagcatccattggga	13	9	11	8	0	1	3	1	2	0	1	2	5	2	5	2	2	2	2	2	2	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:46312211A>T	ENST00000510861.1	-	6	711	c.538T>A	c.(538-540)Tgt>Agt	p.C180S	GABRA2_ENST00000381620.4_Missense_Mutation_p.C180S|GABRA2_ENST00000507069.1_Missense_Mutation_p.C180S|GABRA2_ENST00000356504.1_Missense_Mutation_p.C180S|GABRA2_ENST00000515082.1_Missense_Mutation_p.C180S|GABRA2_ENST00000514090.1_Missense_Mutation_p.C180S|GABRA2_ENST00000540012.1_Missense_Mutation_p.C125S			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	180					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCAGAGGACATGAATGAGCA	0.388													27	38					0	0	0	0	T	46312211	A	T	46312211	3	4	43	1	0	0	0	0	1	0	0	0	6209	217	8	5	837	5	GABRA2	4	46312211	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	1631547	46312211	144842065	117	8016											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69095162	69095162	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatgaaaaataatgttttgGactttccgtgtcatatatgg	12	16	8	5	1	2	1	2	1	0	0	3	2	3	2	1	2	0	1	1	2	5	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:69095162G>T	ENST00000332644.5	-	8	920	c.759C>A	c.(757-759)gtC>gtA	p.V253V		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	253	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TAATGTTTTGGACTTTCCGTG	0.333													12	19					4.3838e-07	4.90172e-07	1	0	T	69095162	G	T	69095162	2	4	43	1	0	0	0	0	0	0	0	1	16334	1161	41	2		2	TMPRSS11B	4	69095162	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	22782951	69095162	122059114	118	8017											
UGT2B17	7367	broad.mit.edu	37	chr4	69433850	69433850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattatagtcagaatattccCaacacaattcttgtagttgt	13	16	5	7	0	2	1	1	0	1	1	3	1	3	1	1	0	1	2	1	0	8	9			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:69433850C>A	ENST00000317746.2	-	1	395	c.353G>T	c.(352-354)tGg>tTg	p.W118L		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	118					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AGAATATTCCCAACACAATTC	0.294													46	87					6.21074e-16	8.02852e-16	1	0	A	69433850	C	A	69433850	3	1	43	1	0	0	0	0	1	0	0	0	17055	595	21	4	1263	4	UGT2B17	4	69433850	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	338688	69433850	121720426	119	8018											
ALB	213	broad.mit.edu	37	chr4	74280805	74280805	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactctgtcgtgctgctgcTgagacttgccaagacatatg	8	13	10	10	1	1	2	0	1	1	2	2	3	1	2	1	0	5	3	1	0	3	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:74280805T>G	ENST00000295897.4	+	9	1201	c.1112T>G	c.(1111-1113)cTg>cGg	p.L371R	ALB_ENST00000415165.2_Missense_Mutation_p.L179R|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.L256R|ALB_ENST00000503124.1_Missense_Mutation_p.L221R|ALB_ENST00000509063.1_Missense_Mutation_p.L371R	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	371	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GTGCTGCTGCTGAGACTTGCC	0.398													29	52					0	0	0	0	G	74280805	T	G	74280805	3	3	43	1	0	0	0	0	1	0	0	0	486	1580	55	5	1146	5	ALB	4	74280805	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	4846955	74280805	116873471	120	8019											
HELQ	113510	broad.mit.edu	37	chr4	84328640	84328640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaagccacagcaccaGggaaatcagaaggcaatctt	16	5	11	9	0	2	2	1	0	1	2	2	4	2	4	2	3	2	2	2	3	5	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:84328640G>A	ENST00000295488.3	-	18	3434	c.3272C>T	c.(3271-3273)cCt>cTt	p.P1091L	HELQ_ENST00000510985.1_Missense_Mutation_p.P1024L	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	1091							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CACAGCACCAGGGAAATCAGA	0.363								Other identified genes with known or suspected DNA repair function					15	24					0	0	0	0	A	84328640	G	A	84328640	3	1	43	1	0	0	0	0	1	0	0	0	7097	1000	35	4	37	4	HELQ	4	84328640	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	10047835	84328640	106825636	121	8020											
GPRIN3	285513	broad.mit.edu	37	chr4	90169364	90169364	+	Frame_Shift_Del	DEL	C	C	-																															cgctgacgcggctgggcctgCgtgggctggctttgacggag																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:90169364delC	ENST00000333209.3	-	2	2416	c.1898delG	c.(1897-1899)ccfs	p.R634fs		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	634										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCTGGGCCTGCGTGGGCTGGC	0.572													35	71	---	---	---	---					-	90169364	C	-	90169364	7	5	43	1	0	1	0	1	0	0	0	0	6781	768	27	0	436	0	GPRIN3	4	90169364	Frame_Shift_Del	DEL	C	TCGA-BB-7862-01A-21D-2229-08	5840724	90169364	100984912	122	8021											
GRID2	2895	broad.mit.edu	37	chr4	94411878	94411878	+	Frame_Shift_Del	DEL	G	G	-																															attgttatctcatcttacacGgcaaacctcgctgctttcct																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:94411878delG	ENST00000282020.4	+	12	2205	c.1947delG	c.(1945-1947)acfs	p.T649fs	GRID2_ENST00000510992.1_Frame_Shift_Del_p.T554fs	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	649					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CATCTTACACGGCAAACCTCG	0.438													38	63	---	---	---	---					-	94411878	G	-	94411878	7	5	43	1	0	1	0	1	0	0	0	0	6822	1103	39	0	1993	0	GRID2	4	94411878	Frame_Shift_Del	DEL	G	TCGA-BB-7862-01A-21D-2229-08	4242514	94411878	96742398	123	8022											
UNC5C	8633	broad.mit.edu	37	chr4	96166251	96166251	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccctcgtccacagcggcTgttacacacagaccactccg	10	7	7	17	3	0	1	0	0	0	1	3	1	2	1	4	1	3	2	4	1	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:96166251T>C	ENST00000453304.1	-	6	1168	c.820A>G	c.(820-822)Agc>Ggc	p.S274G	UNC5C_ENST00000506749.1_Missense_Mutation_p.S274G	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	274	TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CCACAGCGGCTGTTACACACA	0.517													29	32					0	0	0	0	C	96166251	T	C	96166251	3	2	43	1	0	0	0	0	1	0	0	0	17089	1580	55	5	2019	5	UNC5C	4	96166251	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	1754373	96166251	94988025	124	8023											
ANK2	287	broad.mit.edu	37	chr4	114275822	114275822	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgagcacaaatcagcAaaacaaaagcagccacaaga	19	5	6	11	0	2	2	1	1	1	1	2	2	2	2	1	0	5	3	1	0	6	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:114275822A>G	ENST00000357077.4	+	38	6101	c.6048A>G	c.(6046-6048)gcA>gcG	p.A2016A	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.A1983A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1983					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACAAATCAGCAAAACAAAAGC	0.443													45	61					0	0	0	0	G	114275822	A	G	114275822	2	3	43	1	0	0	0	0	0	0	0	1	621	117	5	5		5	ANK2	4	114275822	Silent	SNP	A	TCGA-BB-7862-01A-21D-2229-08	18109571	114275822	76878454	125	8024											
ANK2	287	broad.mit.edu	37	chr4	114279247	114279247	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggggctgatcccctacCgctggagacatcagctgaat	9	9	11	12	1	1	3	1	2	0	1	2	4	2	3	3	3	3	3	3	3	3	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:114279247C>A	ENST00000357077.4	+	38	9526	c.9473C>A	c.(9472-9474)cCg>cAg	p.P3158Q	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3125Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3125					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GATCCCCTACCGCTGGAGACA	0.458													20	32					5.03518e-11	6.10674e-11	1	0	A	114279247	C	A	114279247	3	1	43	1	0	0	0	0	1	0	0	0	621	652	23	3	9688	3	ANK2	4	114279247	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	3425	114279247	76875029	126	8025											
TRPC3	7222	broad.mit.edu	37	chr4	122825631	122825631	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggaagtcacttcagacaacCcaaatattgaccaaaataaa	19	7	5	10	1	2	2	2	1	0	1	2	3	2	3	2	1	1	0	2	1	8	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:122825631C>G	ENST00000264811.5	-	7	2298	c.1880G>C	c.(1879-1881)gGg>gCg	p.G627A	TRPC3_ENST00000379645.3_Missense_Mutation_p.G700A|TRPC3_ENST00000513531.1_Missense_Mutation_p.G572A	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	615					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCAGACAACCCAAATATTGA	0.303													7	9					0	0	0	0	G	122825631	C	G	122825631	3	3	43	1	0	0	0	0	1	0	0	0	16674	623	22	4	686	4	TRPC3	4	122825631	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	8546384	122825631	68328645	127	8026											
TRPC3	7222	broad.mit.edu	37	chr4	122828721	122828721	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagggagccatttatctctAgctagaaaaaagagagaaag	18	7	11	5	0	1	3	0	0	1	3	2	6	1	4	1	1	2	1	1	1	8	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:122828721A>T	ENST00000264811.5	-	6	1993	c.1573_splice	c.e6-1	p.A525_splice	TRPC3_ENST00000379645.3_Splice_Site_p.A598_splice|TRPC3_ENST00000513531.1_Splice_Site_p.A470_splice	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	513					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ATTTATCTCTAGCTAGAAAAA	0.413													22	30					0	0	0	0	T	122828721	A	T	122828721	5	4	43	1	0	0	0	0	0	0	1	0	16674	434	15	5	995	5	TRPC3	4	122828721	Splice_Site	SNP	A	TCGA-BB-7862-01A-21D-2229-08	3090	122828721	68325555	128	8027											
KIAA1109	84162	broad.mit.edu	37	chr4	123274986	123274986	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggctccagtgatcattctAcatatattgtacaaacacta	14	13	5	9	0	2	1	1	1	1	0	3	1	3	1	1	1	3	2	1	1	7	8			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:123274986A>T	ENST00000264501.4	+	82	14492	c.14119A>T	c.(14119-14121)Aca>Tca	p.T4707S	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T4707S			Q2LD37	K1109_HUMAN	KIAA1109	4707					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGATCATTCTACATATATTGT	0.323													21	13					0	0	0	0	T	123274986	A	T	123274986	3	4	43	1	0	0	0	0	1	0	0	0	8259	391	14	5	14437	5	KIAA1109	4	123274986	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	446265	123274986	67879290	129	8028											
FAT4	79633	broad.mit.edu	37	chr4	126237812	126237812	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagccacgccctgtttgcCataaacagtagcaccggagc	12	6	10	13	2	0	0	0	0	0	0	0	2	0	1	4	1	5	3	4	1	4	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:126237812C>T	ENST00000394329.3	+	1	259	c.246C>T	c.(244-246)gcC>gcT	p.A82A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	82	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCCTGTTTGCCATAAACAGTA	0.622											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	38					0	0	0	0	T	126237812	C	T	126237812	2	4	43	1	0	0	0	0	0	0	0	1	5737	581	21	4		4	FAT4	4	126237812	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	2962826	126237812	64916464	130	8029											
USP38	84640	broad.mit.edu	37	chr4	144119035	144119035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttgcagttctttctcaCatgctgcttagctttcagca	6	16	7	12	0	4	0	2	0	3	0	5	0	4	0	0	0	5	7	0	0	1	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:144119035C>A	ENST00000307017.4	+	4	1514	c.1008C>A	c.(1006-1008)caC>caA	p.H336Q	USP38_ENST00000510377.1_Missense_Mutation_p.H336Q	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	336					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TTCTTTCTCACATGCTGCTTA	0.373													22	36					2.41591e-17	3.1931e-17	1	0	A	144119035	C	A	144119035	3	1	43	1	0	0	0	0	1	0	0	0	17165	477	17	4	1022	4	USP38	4	144119035	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	17881223	144119035	47035241	131	8030											
LRBA	987	broad.mit.edu	37	chr4	151392833	151392833	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatctctctgtgttgccAtcgctgggtcatattagaag	9	14	10	8	1	3	2	1	0	2	2	5	2	3	2	1	1	1	2	1	1	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:151392833A>G	ENST00000535741.1	-	43	7083	c.6610T>C	c.(6610-6612)Tgg>Cgg	p.W2204R	LRBA_ENST00000507224.1_Missense_Mutation_p.W2204R|LRBA_ENST00000357115.3_Missense_Mutation_p.W2215R|LRBA_ENST00000510413.1_Missense_Mutation_p.W2204R|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2215	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.W2215R(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGTGTTGCCATCGCTGGGTC	0.323													22	39					0	0	0	0	G	151392833	A	G	151392833	3	3	43	1	0	0	0	0	1	0	0	0	8995	217	8	5	2008	5	LRBA	4	151392833	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	7273798	151392833	39761443	132	8031											
LRBA	987	broad.mit.edu	37	chr4	151682970	151682970	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcgataaaagcaaggccTgcattcttctgaatagaatt	14	12	8	7	1	2	2	0	1	2	1	3	3	2	2	1	1	2	3	1	1	6	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:151682970T>G	ENST00000535741.1	-	35	6083	c.5610A>C	c.(5608-5610)gcA>gcC	p.A1870A	LRBA_ENST00000507224.1_Silent_p.A1870A|LRBA_ENST00000357115.3_Silent_p.A1870A|LRBA_ENST00000510413.1_Silent_p.A1870A			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1870						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAGCAAGGCCTGCATTCTTCT	0.279													19	34					0	0	0	0	G	151682970	T	G	151682970	2	3	43	1	0	0	0	0	0	0	0	1	8995	1567	55	5		5	LRBA	4	151682970	Silent	SNP	T	TCGA-BB-7862-01A-21D-2229-08	290137	151682970	39471306	133	8032											
RXFP1	59350	broad.mit.edu	37	chr4	159572918	159572918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcttttttaggtaccataaCctcttgggtagtgattttta	8	20	7	6	0	2	1	0	1	2	0	2	1	2	1	2	2	2	2	2	2	5	11			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:159572918C>A	ENST00000307765.5	+	18	2236	c.1985C>A	c.(1984-1986)aCc>aAc	p.T662N	RXFP1_ENST00000343542.5_Missense_Mutation_p.T614N|RXFP1_ENST00000460056.2_Missense_Mutation_p.T581N|RXFP1_ENST00000470033.1_Missense_Mutation_p.T629N|RXFP1_ENST00000448688.2_Missense_Mutation_p.T557N	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	662						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GGTACCATAACCTCTTGGGTA	0.343													12	35					2.80697e-09	3.24825e-09	1	0	A	159572918	C	A	159572918	3	1	43	1	0	0	0	0	1	0	0	0	13844	507	18	4	2055	4	RXFP1	4	159572918	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	7889948	159572918	31581358	134	8033											
NPY1R	4886	broad.mit.edu	37	chr4	164247135	164247135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacgtatttgtctttgtacGcatcaagtgttacattttgg	9	17	8	7	2	2	0	1	0	1	0	2	0	2	0	0	1	2	4	0	1	4	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:164247135G>T	ENST00000296533.2	-	2	1103	c.572C>A	c.(571-573)gCg>gAg	p.A191E	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	191					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTCTTTGTACGCATCAAGTGT	0.433													28	31					1.17739e-12	1.47872e-12	1	0	T	164247135	G	T	164247135	3	4	43	1	0	0	0	0	1	0	0	0	10679	1087	38	3	590	3	NPY1R	4	164247135	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	4674217	164247135	26907141	135	8034											
TLL1	7092	broad.mit.edu	37	chr4	166986968	166986968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgagaattgaattcaaatCtgacaatactgtatccaaga	17	12	6	6	0	2	4	1	3	1	2	3	5	3	4	1	0	1	1	1	0	8	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:166986968C>T	ENST00000061240.2	+	16	2788	c.2141C>T	c.(2140-2142)tCt>tTt	p.S714F	TLL1_ENST00000507499.1_Missense_Mutation_p.S737F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	714	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.S714C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAATTCAAATCTGACAATACT	0.388													30	57					0	0	0	0	T	166986968	C	T	166986968	3	4	43	1	0	0	0	0	1	0	0	0	16039	913	32	2	2203	2	TLL1	4	166986968	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	2739833	166986968	24167308	136	8035											
GLRA3	8001	broad.mit.edu	37	chr4	175649783	175649783	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaggtctaaagagtcgtcagGatattcactgtacgcgaggc	11	9	13	8	3	3	1	2	0	1	1	4	4	3	2	0	3	1	1	0	3	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:175649783G>C	ENST00000274093.3	-	4	836	c.334C>G	c.(334-336)Cct>Gct	p.P112A	GLRA3_ENST00000340217.5_Missense_Mutation_p.P112A|GLRA3_ENST00000436738.1_5'UTR	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	112					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GAGTCGTCAGGATATTCACTG	0.398													36	54					0	0	0	0	C	175649783	G	C	175649783	3	2	43	1	0	0	0	0	1	0	0	0	6507	1174	41	2	1088	2	GLRA3	4	175649783	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	8662815	175649783	15504493	137	8036											
ADAM29	11086	broad.mit.edu	37	chr4	175898234	175898234	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatactgcaagtgagactTgctacaaagaattgaacacc	17	8	7	9	0	0	3	0	2	0	2	0	4	0	3	1	0	5	2	1	0	7	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:175898234T>A	ENST00000359240.3	+	5	2228	c.1558T>A	c.(1558-1560)Tgc>Agc	p.C520S	ADAM29_ENST00000445694.1_Missense_Mutation_p.C520S|ADAM29_ENST00000514159.1_Missense_Mutation_p.C520S|ADAM29_ENST00000404450.4_Missense_Mutation_p.C520S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	520	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAGTGAGACTTGCTACAAAGA	0.433													37	41					0	0	0	0	A	175898234	T	A	175898234	3	1	43	1	0	0	0	0	1	0	0	0	247	1812	63	5	1560	5	ADAM29	4	175898234	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	248451	175898234	15256042	138	8037											
WDR17	116966	broad.mit.edu	37	chr4	177072972	177072972	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaaccagtctgaagctCaagaactaacaacagtcaag	18	8	6	9	0	3	2	2	1	1	1	3	2	3	2	1	0	5	1	1	0	8	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:177072972C>A	ENST00000393643.2	+	17	2566	c.2314C>A	c.(2314-2316)Caa>Aaa	p.Q772K	WDR17_ENST00000280190.4_Missense_Mutation_p.Q796K|WDR17_ENST00000507824.2_Missense_Mutation_p.Q779K|WDR17_ENST00000508596.1_Missense_Mutation_p.Q772K	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	796										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTCTGAAGCTCAAGAACTAAC	0.313													14	23					1.05317e-09	1.2404e-09	1	0	A	177072972	C	A	177072972	3	1	43	1	0	0	0	0	1	0	0	0	17373	827	29	2	2452	2	WDR17	4	177072972	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1174738	177072972	14081304	139	8038											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184366134	184366134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctagcacggatgaagctgccGacgccgagagcgggacccga	10	3	15	13	6	0	2	0	1	0	1	0	7	0	4	3	2	4	2	3	2	2	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:184366134G>A	ENST00000504169.1	+	1	391	c.184G>A	c.(184-186)Gac>Aac	p.D62N	CDKN2AIP_ENST00000510928.1_Missense_Mutation_p.D62N|CDKN2AIP_ENST00000302350.4_Missense_Mutation_p.D62N	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	62					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGAAGCTGCCGACGCCGAGAG	0.667													19	22					0	0	0	0	A	184366134	G	A	184366134	3	1	43	1	0	0	0	0	1	0	0	0	3191	1058	37	1	186	1	CDKN2AIP	4	184366134	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	7293162	184366134	6788142	140	8039											
IRX4	50805	broad.mit.edu	37	chr5	1880913	1880913	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgccaggcccccatgCgcagatcccgaaccatcctt	7	7	10	17	2	0	1	0	0	0	1	2	2	2	1	6	2	3	2	6	2	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:1880913C>G	ENST00000505790.1	-	4	789	c.333G>C	c.(331-333)gcG>gcC	p.A111A	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Silent_p.A111A|IRX4_ENST00000231357.2_Silent_p.A111A	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	111					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GGCCCCCATGCGCAGATCCCG	0.622													26	55					0	0	0	0	G	1880913	C	G	1880913	2	3	43	1	0	0	0	0	0	0	0	1	7899	755	27	3		3	IRX4	5	1880913	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08		1880913	179034347	141	8040											
IRX1	79192	broad.mit.edu	37	chr5	3599605	3599605	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacctggttcgccaacgcGcgccggcgcctcaagaagga	8	5	12	16	6	1	1	1	0	0	1	3	2	2	2	5	3	1	1	5	3	3	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:3599605G>C	ENST00000302006.3	+	2	595	c.543G>C	c.(541-543)gcG>gcC	p.A181A	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	181						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A181A(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TCGCCAACGCGCGCCGGCGCC	0.632													41	47					0	0	0	0	C	3599605	G	C	3599605	2	2	43	1	0	0	0	0	0	0	0	1	7896	1074	38	3		3	IRX1	5	3599605	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1718692	3599605	177315655	142	8041											
KIAA0947	23379	broad.mit.edu	37	chr5	5465077	5465077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccagggaacctccctcCagctgaagttgcaacaacaa	12	6	7	16	0	0	1	0	1	0	0	3	2	3	2	5	1	5	3	5	1	5	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:5465077C>T	ENST00000296564.7	+	13	5852	c.5630C>T	c.(5629-5631)cCa>cTa	p.P1877L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1877										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACCTCCCTCCAGCTGAAGTT	0.507													9	26					0	0	0	0	T	5465077	C	T	5465077	3	4	43	1	0	0	0	0	1	0	0	0	8253	594	21	4	5680	4	KIAA0947	5	5465077	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1865472	5465077	175450183	143	8042											
CDH12	1010	broad.mit.edu	37	chr5	21783484	21783484	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactaactttactcgcaattAtggagaaattatactgcgca	14	13	6	8	2	0	1	0	0	0	1	1	2	0	1	0	1	5	2	0	1	8	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:21783484A>G	ENST00000382254.1	-	11	2462	c.1376T>C	c.(1375-1377)aTa>aCa	p.I459T	CDH12_ENST00000522262.1_Missense_Mutation_p.I419T|CDH12_ENST00000504376.2_Missense_Mutation_p.I459T|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	459	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACTCGCAATTATGGAGAAATT	0.383										HNSCC(59;0.17)			21	45					0	0	0	0	G	21783484	A	G	21783484	3	3	43	1	0	0	0	0	1	0	0	0	3127	449	16	5	1028	5	CDH12	5	21783484	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	16318407	21783484	159131776	144	8043											
C5orf22	55322	broad.mit.edu	37	chr5	31552888	31552888	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggttctaggtcaagtcTggatgattactgtccttctg	6	17	11	7	0	4	1	1	1	3	0	5	2	5	2	1	3	1	2	1	3	3	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:31552888T>A	ENST00000355907.3	+	10	1533	c.371T>A	c.(370-372)cTg>cAg	p.L124Q	C5orf22_ENST00000325366.9_Missense_Mutation_p.L403Q|C5orf22_ENST00000504866.1_3'UTR			Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	403										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AGGTCAAGTCTGGATGATTAC	0.383													15	21					0	0	0	0	A	31552888	T	A	31552888	3	1	43	1	0	0	0	0	1	0	0	0	2306	1580	55	5	1242	5	C5orf22	5	31552888	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	9769404	31552888	149362372	145	8044											
C1QTNF3	114899	broad.mit.edu	37	chr5	34035786	34035786	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcccggtggcccagggggGccttggtagcctcgaaagct	5	6	18	12	2	0	0	0	0	0	0	1	1	0	0	4	7	2	2	4	7	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:34035786G>T	ENST00000382065.3	-	2	1087	c.381C>A	c.(379-381)ggC>ggA	p.G127G	C1QTNF3_ENST00000231338.7_Silent_p.G54G	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	54	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					GCCCAGGGGGGCCTTGGTAGC	0.522													11	34					3.45872e-05	3.74871e-05	1	0	T	34035786	G	T	34035786	2	4	43	1	0	0	0	0	0	0	0	1	1983	1190	42	4		4	C1QTNF3	5	34035786	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2482898	34035786	146879474	146	8045											
EGFLAM	133584	broad.mit.edu	37	chr5	38448428	38448428	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagaagccattgagatcccGcagtttatcggccgcagtta	11	10	10	10	3	0	2	0	1	0	2	2	3	1	2	3	1	1	4	3	1	4	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:38448428G>A	ENST00000322350.5	+	18	2836	c.2490G>A	c.(2488-2490)ccG>ccA	p.P830P	EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000336740.6_Silent_p.P596P|EGFLAM_ENST00000354891.3_Silent_p.P838P|EGFLAM_ENST00000397202.2_Silent_p.P196P|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000506135.1_5'UTR	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	838						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTGAGATCCCGCAGTTTATCG	0.473													53	85					0	0	0	0	A	38448428	G	A	38448428	2	1	43	1	0	0	0	0	0	0	0	1	5002	1074	38	1		1	EGFLAM	5	38448428	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	4412642	38448428	142466832	147	8046											
OXCT1	5019	broad.mit.edu	37	chr5	41853618	41853618	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaccatgcgttttatctgcTtggaccgaagcaaaagcccc	11	9	9	12	2	1	1	0	0	1	1	1	3	1	2	4	1	4	3	4	1	4	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:41853618T>A	ENST00000196371.5	-	4	477	c.317A>T	c.(316-318)aAg>aTg	p.K106M		NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	106					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTTTATCTGCTTGGACCGAAG	0.418													26	21					0	0	0	0	A	41853618	T	A	41853618	3	1	43	1	0	0	0	0	1	0	0	0	11400	1609	56	5	1301	5	OXCT1	5	41853618	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	3405190	41853618	139061642	148	8047											
MRPS30	10884	broad.mit.edu	37	chr5	44809102	44809102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggaggcctttgctacgcgGtccgaggctttcattgcaca	6	12	12	11	3	1	0	1	0	0	0	2	2	2	1	2	4	3	3	2	4	1	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:44809102G>T	ENST00000507110.1	+	1	76	c.38G>T	c.(37-39)gGt>gTt	p.G13V		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	13					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TTGCTACGCGGTCCGAGGCTT	0.642													3	15					0.150653	0.151799	1	0	T	44809102	G	T	44809102	3	4	43	1	0	0	0	0	1	0	0	0	9910	1261	44	4	40	4	MRPS30	5	44809102	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2955484	44809102	136106158	149	8048											
IL31RA	133396	broad.mit.edu	37	chr5	55192206	55192206	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcctggaactgtggagagtCctgaaaccagctgaggcgga	10	6	16	9	1	0	3	0	2	0	1	1	6	1	5	3	5	3	1	3	5	2	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:55192206C>T	ENST00000396834.1	+	9	1240	c.744C>T	c.(742-744)gtC>gtT	p.V248V	IL31RA_ENST00000359040.5_Silent_p.V267V|IL31RA_ENST00000396836.2_Silent_p.V267V|IL31RA_ENST00000447346.2_Silent_p.V267V|IL31RA_ENST00000354961.4_Silent_p.V248V|IL31RA_ENST00000490985.1_Silent_p.V125V|IL31RA_ENST00000297015.3_Silent_p.V125V	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	235	Fibronectin type-III 3.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTGGAGAGTCCTGAAACCAG	0.517													17	50					0	0	0	0	T	55192206	C	T	55192206	2	4	43	1	0	0	0	0	0	0	0	1	7744	842	30	2		2	IL31RA	5	55192206	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	10383104	55192206	125723054	150	8049											
GAPT	202309	broad.mit.edu	37	chr5	57790833	57790833	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacattcttccagattcatAttagcttttcaaaatattga	14	17	3	7	0	3	2	2	1	1	1	4	2	4	2	1	0	2	1	1	0	6	10			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:57790833A>T	ENST00000396776.2	+	3	932	c.470A>T	c.(469-471)tAt>tTt	p.Y157F	GAPT_ENST00000318469.2_Missense_Mutation_p.Y157F	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	157					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CCAGATTCATATTAGCTTTTC	0.313													11	18					0	0	0	0	T	57790833	A	T	57790833	3	4	43	1	0	0	0	0	1	0	0	0	6287	449	16	5	472	5	GAPT	5	57790833	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	2598627	57790833	123124427	151	8050											
MAST4	375449	broad.mit.edu	37	chr5	66459668	66459668	+	Frame_Shift_Del	DEL	C	C	-																															acaggaatcccaccagaaatCccatggacccgggagtgatt																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:66459668delC	ENST00000404260.3	+	29	4978	c.4670delC	c.(4669-4671)tcfs	p.S1557fs	MAST4_ENST00000261569.7_Frame_Shift_Del_p.S1360fs|MAST4_ENST00000405643.1_Frame_Shift_Del_p.S1375fs|MAST4_ENST00000403625.2_Frame_Shift_Del_p.S1554fs|MAST4_ENST00000403666.1_Frame_Shift_Del_p.S1365fs			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1557						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CACCAGAAATCCCATGGACCC	0.507													14	27	---	---	---	---					-	66459668	C	-	66459668	7	5	43	1	0	1	0	1	0	0	0	0	9396	855	30	0	4905	0	MAST4	5	66459668	Frame_Shift_Del	DEL	C	TCGA-BB-7862-01A-21D-2229-08	8668835	66459668	114455592	152	8051											
FAM169A	26049	broad.mit.edu	37	chr5	74109689	74109689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atacatgagagaagacagtgGataccgcaagccaagcgcat	16	5	11	9	2	0	3	0	1	0	2	0	5	0	4	2	1	4	2	2	1	5	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:74109689G>A	ENST00000389156.4	-	6	736	c.646C>T	c.(646-648)Cca>Tca	p.P216S	FAM169A_ENST00000510496.1_Intron|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	216										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GAAGACAGTGGATACCGCAAG	0.363													27	55					0	0	0	0	A	74109689	G	A	74109689	3	1	43	1	0	0	0	0	1	0	0	0	5528	1174	41	2	1398	2	FAM169A	5	74109689	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	7650021	74109689	106805571	153	8052											
CMYA5	202333	broad.mit.edu	37	chr5	79028981	79028981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttgtcagaagtagaaGccaaagaagttaaagctggg	14	10	12	5	0	1	3	1	0	0	3	1	3	1	3	1	1	2	4	1	1	7	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:79028981G>A	ENST00000446378.2	+	2	4424	c.4393G>A	c.(4393-4395)Gcc>Acc	p.A1465T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1465						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAGTAGAAGCCAAAGAAGT	0.378													17	38					0	0	0	0	A	79028981	G	A	79028981	3	1	43	1	0	0	0	0	1	0	0	0	3620	971	34	4	4399	4	CMYA5	5	79028981	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	4919292	79028981	101886279	154	8053											
DHFR	1719	broad.mit.edu	37	chr5	79924954	79924954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacttaatgcctttctcCtcctggacatcagagagaac	10	13	7	11	0	2	2	1	0	1	2	4	4	3	3	3	1	3	1	3	1	3	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:79924954C>A	ENST00000439211.2	-	6	1009	c.516G>T	c.(514-516)gaG>gaT	p.E172D	DHFR_ENST00000511032.1_3'UTR|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Missense_Mutation_p.E120D|DHFR_ENST00000505337.1_Missense_Mutation_p.E172D	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	172	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGCCTTTCTCCTCCTGGACAT	0.328													12	14					0.000219431	0.00023121	1	0	A	79924954	C	A	79924954	3	1	43	1	0	0	0	0	1	0	0	0	4518	680	24	4	51	4	DHFR	5	79924954	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	895973	79924954	100990306	155	8054											
GPR98	84059	broad.mit.edu	37	chr5	89923209	89923209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcataattccagtagttcGtggaaaggacaacaatggaa	16	9	9	7	1	1	0	1	0	0	0	3	3	2	3	1	3	1	2	1	3	6	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:89923209G>T	ENST00000405460.2	+	7	950	c.854G>T	c.(853-855)cGt>cTt	p.R285L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	285					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAGTAGTTCGTGGAAAGGAC	0.393													45	96					5.7616e-29	8.29796e-29	1	0	T	89923209	G	T	89923209	3	4	43	1	0	0	0	0	1	0	0	0	6771	1145	40	3	880	3	GPR98	5	89923209	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	9998255	89923209	90992051	156	8055											
PCSK1	5122	broad.mit.edu	37	chr5	95743993	95743993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgaggtgcctgtgtgcGtctccgtgcagtcattgtgc	4	11	15	11	3	2	0	1	0	1	0	3	1	2	0	3	2	4	1	3	2	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:95743993G>A	ENST00000311106.3	-	9	1367	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.T330M|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	377	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCTGTGTGCGTCTCCGTGCA	0.577													12	12					0	0	0	0	A	95743993	G	A	95743993	3	1	43	1	0	0	0	0	1	0	0	0	11671	1145	40	1	1155	1	PCSK1	5	95743993	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	5820784	95743993	85171267	157	8056											
ST8SIA4	7903	broad.mit.edu	37	chr5	100147576	100147576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttacacactttcctgttGtcagttttagagctcctcta	7	17	6	11	0	2	1	1	0	1	1	4	1	4	1	2	0	2	4	2	0	3	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:100147576G>T	ENST00000231461.5	-	5	1365	c.1055C>A	c.(1054-1056)aCa>aAa	p.T352K		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	352					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CTTTCCTGTTGTCAGTTTTAG	0.338													5	20					0.184627	0.185678	1	0	T	100147576	G	T	100147576	3	4	43	1	0	0	0	0	1	0	0	0	15324	1377	48	4	28	4	ST8SIA4	5	100147576	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	4403583	100147576	80767684	158	8057											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834371	101834371	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcggaaaccgccgaaccTtatcaaggcctctggaagta	11	10	9	11	3	2	0	1	0	1	0	3	3	2	2	4	3	2	1	4	3	6	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:101834371T>A	ENST00000506729.1	-	1	349	c.178A>T	c.(178-180)Agg>Tgg	p.R60W	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R60W|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R60W|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R60W|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R60W			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	60						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCGCCGAACCTTATCAAGGCC	0.552													120	164					0	0	0	0	A	101834371	T	A	101834371	3	1	43	1	0	0	0	0	1	0	0	0	14820	1608	56	5	2033	5	SLCO6A1	5	101834371	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	1686795	101834371	79080889	159	8058											
FAM170A	340069	broad.mit.edu	37	chr5	118970235	118970235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtctttcatctcaccatGgctcagctgacaggcaacat	10	10	7	14	1	4	1	3	1	2	0	5	1	4	1	1	2	2	3	1	2	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:118970235G>T	ENST00000515256.1	+	3	964	c.792G>T	c.(790-792)atG>atT	p.M264I				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	264						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						ATCTCACCATGGCTCAGCTGA	0.542													92	113					2.46799e-47	3.66396e-47	1	0	T	118970235	G	T	118970235	3	4	43	1	0	0	0	0	1	0	0	0	5530	1348	47	4	802	4	FAM170A	5	118970235	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	17135864	118970235	61945025	160	8059											
FTMT	94033	broad.mit.edu	37	chr5	121187935	121187935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagctctatgcgtcctacGtgtacttgtccatggcctat	6	14	9	12	3	1	0	0	0	1	0	4	1	3	0	3	1	4	2	3	1	4	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:121187935G>T	ENST00000321339.1	+	1	286	c.277G>T	c.(277-279)Gtg>Ttg	p.V93L		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	93	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGCGTCCTACGTGTACTTGTC	0.622													14	38					0.0242445	0.0248062	1	0	T	121187935	G	T	121187935	3	4	43	1	0	0	0	0	1	0	0	0	6133	1145	40	3	279	3	FTMT	5	121187935	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2217700	121187935	59727325	161	8060											
ACSL6	23305	broad.mit.edu	37	chr5	131302194	131302194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtctggatctttcaagtagCctttgaacacatttggtcct	8	16	8	9	0	3	1	1	1	2	0	4	2	4	2	2	2	2	1	2	2	3	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:131302194C>T	ENST00000379264.2	-	17	1736	c.1628G>A	c.(1627-1629)gGc>gAc	p.G543D	ACSL6_ENST00000379255.1_Missense_Mutation_p.G443D|ACSL6_ENST00000357096.1_Missense_Mutation_p.G443D|ACSL6_ENST00000543479.1_Missense_Mutation_p.G518D|ACSL6_ENST00000379272.2_Missense_Mutation_p.G533D|ACSL6_ENST00000431707.1_Missense_Mutation_p.G498D|ACSL6_ENST00000379244.1_Missense_Mutation_p.G518D|ACSL6_ENST00000379249.3_Missense_Mutation_p.G518D|ACSL6_ENST00000379240.1_Missense_Mutation_p.G518D|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379246.1_Missense_Mutation_p.G529D|ACSL6_ENST00000544770.1_Missense_Mutation_p.G427D|ACSL6_ENST00000296869.4_Missense_Mutation_p.G543D	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	518					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTCAAGTAGCCTTTGAACAC	0.502													29	65					0	0	0	0	T	131302194	C	T	131302194	3	4	43	1	0	0	0	0	1	0	0	0	181	739	26	4	560	4	ACSL6	5	131302194	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	10114259	131302194	49613066	162	8061											
SEC24A	10802	broad.mit.edu	37	chr5	134032863	134032863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctataagaaattagccttGgactgttctggtcagcaagt	11	14	9	7	0	3	1	1	0	2	1	3	2	3	2	1	2	2	2	1	2	5	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:134032863G>T	ENST00000398844.2	+	14	2322	c.2034G>T	c.(2032-2034)ttG>ttT	p.L678F		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	678					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATTAGCCTTGGACTGTTCTG	0.323													46	55					7.62842e-08	8.60226e-08	1	0	T	134032863	G	T	134032863	3	4	43	1	0	0	0	0	1	0	0	0	14081	1339	47	4	2088	4	SEC24A	5	134032863	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2730669	134032863	46882397	163	8062											
KDM3B	51780	broad.mit.edu	37	chr5	137727661	137727661	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggctttctgtcctccccGgcagatttttcacaggagaa	7	11	11	12	2	2	2	1	0	1	2	4	3	4	2	3	4	0	2	3	4	1	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:137727661G>A	ENST00000314358.5	+	8	2540	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P	KDM3B_ENST00000394866.1_Silent_p.P436P|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	780					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGTCCTCCCCGGCAGATTTTT	0.532													168	267					0	0	0	0	A	137727661	G	A	137727661	2	1	43	1	0	0	0	0	0	0	0	1	8180	1103	39	1		1	KDM3B	5	137727661	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	3694798	137727661	43187599	164	8063											
ANKHD1	54882	broad.mit.edu	37	chr5	139909127	139909127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataaacccagcaaataagtCtttgccacctacatttggcc	13	10	5	13	0	1	0	0	0	1	0	1	0	1	0	4	1	4	1	4	1	5	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:139909127C>G	ENST00000297183.6	+	29	6720	c.6596C>G	c.(6595-6597)tCt>tGt	p.S2199C	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2199C|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S2199C|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S582C	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAATAAGTCTTTGCCACCT	0.478													60	72					0	0	0	0	G	139909127	C	G	139909127	3	3	43	1	0	0	0	0	1	0	0	0	628	913	32	2	6816	2	ANKHD1	5	139909127	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	2181466	139909127	41006133	165	8064											
ZMAT2	153527	broad.mit.edu	37	chr5	140080472	140080472	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaactcgccgagaagaggctCacggaagagagagaaaagaa	19	2	13	7	3	1	5	1	0	0	5	2	9	1	6	1	2	1	1	1	2	6	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:140080472C>G	ENST00000274712.3	+	2	214	c.87C>G	c.(85-87)ctC>ctG	p.L29L		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	29						nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGAGGCTCACGGAAGAGA	0.498													11	42					0	0	0	0	G	140080472	C	G	140080472	2	3	43	1	0	0	0	0	0	0	0	1	17787	813	29	2		2	ZMAT2	5	140080472	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	171345	140080472	40834788	166	8065											
PCDHA8	56140	broad.mit.edu	37	chr5	140222189	140222189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagttggtggtaaccgcgcGggacgggggctcgccttcgc	4	8	18	11	6	0	1	0	1	0	0	2	2	0	2	2	5	1	3	2	5	1	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:140222189G>A	ENST00000531613.1	+	1	1283	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R428Q|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAACCGCGCGGGACGGGGGC	0.632													75	96					0	0	0	0	A	140222189	G	A	140222189	3	1	43	1	0	0	0	0	1	0	0	0	11601	1116	39	1	1285	1	PCDHA8	5	140222189	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	141717	140222189	40693071	167	8066											
PCDHB16	57717	broad.mit.edu	37	chr5	140563029	140563029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtaaatcctatgacaGgggaagttcgactgagaaag	14	8	14	5	1	0	2	0	2	0	1	2	6	1	4	1	4	0	2	1	4	5	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:140563029G>T	ENST00000361016.2	+	1	2050	c.895G>T	c.(895-897)Ggg>Tgg	p.G299W		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		299	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTATGACAGGGGAAGTTCG	0.453													32	56					1.06801e-11	1.31639e-11	1	0	T	140563029	G	T	140563029	3	4	43	1	0	0	0	0	1	0	0	0	11612	1000	35	4	897	4	PCDHB16	5	140563029	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	340840	140563029	40352231	168	8067											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730296	140730296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctggattctgctcaagatGcagatgtggaaggcaattca	11	11	11	8	0	4	2	2	0	2	2	4	4	4	4	0	3	2	3	0	3	3	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:140730296G>A	ENST00000523390.1	+	1	469	c.469G>A	c.(469-471)Gca>Aca	p.A157T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCAAGATGCAGATGTGGA	0.423													127	141					0	0	0	0	A	140730296	G	A	140730296	3	1	43	1	0	0	0	0	1	0	0	0	11633	1319	46	4	471	4	PCDHGB1	5	140730296	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	167267	140730296	40184964	169	8068											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731764	140731764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtcgctgtgcgtgatggagGacagccgccactctccgcca	6	7	14	14	4	1	1	0	1	1	0	3	3	1	3	4	3	2	1	4	3	0	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:140731764G>A	ENST00000523390.1	+	1	1937	c.1937G>A	c.(1936-1938)gGa>gAa	p.G646E	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGATGGAGGACAGCCGCCA	0.682													36	45					0	0	0	0	A	140731764	G	A	140731764	3	1	43	1	0	0	0	0	1	0	0	0	11633	1174	41	2	1939	2	PCDHGB1	5	140731764	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1468	140731764	40183496	170	8069											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754340	140754340	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcgtcgcccaaattctggtAacagttctagatgtgaatga	12	11	10	8	2	2	3	0	2	2	1	3	3	2	3	1	1	2	2	1	1	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:140754340A>G	ENST00000517434.1	+	1	690	c.690A>G	c.(688-690)gtA>gtG	p.V230V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATTCTGGTAACAGTTCTAG	0.542													10	22					0	0	0	0	G	140754340	A	G	140754340	2	3	43	1	0	0	0	0	0	0	0	1	11629	349	13	5		5	PCDHGA6	5	140754340	Silent	SNP	A	TCGA-BB-7862-01A-21D-2229-08	22576	140754340	40160920	171	8070											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789910	140789910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctggccattgccttgcGcctgcgacgctctctcagcc	4	11	10	16	3	3	0	1	0	2	0	4	2	3	0	4	1	4	1	4	1	0	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:140789910G>A	ENST00000520790.1	+	1	2141	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCTTGCGCCTGCGACGC	0.577													60	67					0	0	0	0	A	140789910	G	A	140789910	3	1	43	1	0	0	0	0	1	0	0	0	11638	1087	38	1	2143	1	PCDHGB6	5	140789910	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	35570	140789910	40125350	172	8071											
RBM27	54439	broad.mit.edu	37	chr5	145610481	145610481	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgatgcagagattatgatgGtaaaaatcaccaccttttct	13	12	8	8	1	2	2	1	1	1	1	2	4	2	2	2	1	1	2	2	1	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:145610481G>A	ENST00000265271.5	+	6	1016		c.e6+1		RBM27_ENST00000506502.1_Splice_Site	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27						mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATTATGATGGTAAAAATCAC	0.348													29	10					0	0	0	0	A	145610481	G	A	145610481	5	1	43	1	0	0	0	0	0	0	1	0	13209	1275	44	4	873	4	RBM27	5	145610481	Splice_Site	SNP	G	TCGA-BB-7862-01A-21D-2229-08	4820571	145610481	35304779	173	8072											
ANXA6	309	broad.mit.edu	37	chr5	150503912	150503912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgaagtcattggctgggCgcacagttcccttcagctgt	6	12	13	10	1	2	1	2	1	0	0	3	1	3	1	1	3	1	5	1	3	1	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:150503912C>T	ENST00000354546.5	-	15	1300	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.R326H|ANXA6_ENST00000521512.1_Missense_Mutation_p.R151H|ANXA6_ENST00000356496.5_Missense_Mutation_p.R358H	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	358						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTGGCTGGGCGCACAGTTCC	0.597													9	3					0	0	0	0	T	150503912	C	T	150503912	3	4	43	1	0	0	0	0	1	0	0	0	721	768	27	1	996	1	ANXA6	5	150503912	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	4893431	150503912	30411348	174	8073											
CYFIP2	26999	broad.mit.edu	37	chr5	156723752	156723752	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgctggagccggaggtCaccaagctcatgaagttcat	10	8	14	9	1	3	1	3	1	0	0	3	4	3	3	2	4	3	3	2	4	2	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:156723752C>A	ENST00000347377.6	+	5	788	c.357C>A	c.(355-357)gtC>gtA	p.V119V	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Silent_p.V93V|CYFIP2_ENST00000377576.3_Silent_p.V119V|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Silent_p.V119V|CYFIP2_ENST00000541131.1_Silent_p.V44V	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	119					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCCGGAGGTCACCAAGCTCA	0.522													30	23					2.85442e-18	3.80111e-18	1	0	A	156723752	C	A	156723752	2	1	43	1	0	0	0	0	0	0	0	1	4170	813	29	2		2	CYFIP2	5	156723752	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	6219840	156723752	24191508	175	8074											
IL12B	3593	broad.mit.edu	37	chr5	158749420	158749420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctctgctgcttttgacaCtgaatgtcaaatcagtactg	10	13	7	11	0	3	2	2	2	1	0	3	2	3	2	1	0	3	3	1	0	3	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:158749420C>T	ENST00000231228.2	-	4	919	c.464G>A	c.(463-465)aGt>aAt	p.S155N		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	155					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTTTGACACTGAATGTCAA	0.418													24	17					0	0	0	0	T	158749420	C	T	158749420	3	4	43	1	0	0	0	0	1	0	0	0	7678	565	20	4	538	4	IL12B	5	158749420	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	2025668	158749420	22165840	176	8075											
C1QTNF2	114898	broad.mit.edu	37	chr5	159781811	159781811	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccggtcgccgtcgtgtcCatcttggccgtctttgccag	2	11	11	17	5	2	0	0	0	2	0	5	0	3	0	6	2	1	0	6	2	0	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:159781811C>A	ENST00000393975.3	-	2	346	c.343G>T	c.(343-345)Gga>Tga	p.G115*		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	70	Collagen-like.					collagen		p.G115R(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGTCGTGTCCATCTTGGCCG	0.677													17	6					1.01871e-10	1.2243e-10	1	0	A	159781811	C	A	159781811	4	1	43	1	0	0	0	0	0	1	0	0	1982	603	21	4	657	4	C1QTNF2	5	159781811	Nonsense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1032391	159781811	21133449	177	8076											
SNRNP48	154007	broad.mit.edu	37	chr6	7609064	7609064	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcttttatttcagggatggGgaaagacaccatagtcataa	13	12	9	7	0	3	1	2	0	1	1	3	3	3	3	1	3	0	0	1	3	4	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:7609064G>A	ENST00000342415.5	+	9	1037	c.978G>A	c.(976-978)ggG>ggA	p.G326G		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	326	Arg-rich.				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TCAGGGATGGGGAAAGACACC	0.279													6	1					0	0	0	0	A	7609064	G	A	7609064	2	1	43	1	0	0	0	0	0	0	0	1	14945	1219	43	4		4	SNRNP48	6	7609064	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08		7609064	163506003	178	8077											
RANBP9	10048	broad.mit.edu	37	chr6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgttgctgctgctgcGgcggcggcggcggcggctgc	0	8	20	13	6	0	0	0	0	0	0	0	0	0	0	0	6	6	7	0	6	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761													2	2					0.004672	0.00482682	1	0	T	13711709	G	T	13711709	3	4	43	1	0	0	0	0	1	0	0	0	13114	1116	39	3	2216	3	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	6102645	13711709	157403358	179	8078											
CD83	9308	broad.mit.edu	37	chr6	14133945	14133945	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggagattgtcctgctgctgGctctggttattttctactta	5	17	10	9	1	2	1	0	0	2	1	3	2	3	1	1	3	3	4	1	3	3	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:14133945G>T	ENST00000379153.3	+	4	619	c.448G>T	c.(448-450)Gct>Tct	p.A150S		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	150					defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				CCTGCTGCTGGCTCTGGTTAT	0.378													16	9					6.72482e-11	8.11881e-11	1	0	T	14133945	G	T	14133945	3	4	43	1	0	0	0	0	1	0	0	0	3070	1203	42	4	462	4	CD83	6	14133945	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	422236	14133945	156981122	180	8079											
TUBB	203068	broad.mit.edu	37	chr6	30688164	30688164	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtcgcgtttgcacctcGctgctccagcctctggggcg	2	10	13	16	5	1	0	0	0	1	0	4	0	2	0	4	2	4	4	4	2	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:30688164G>A	ENST00000327892.8	+	0	187				TUBB_ENST00000435534.1_De_novo_Start_OutOfFrame	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I						cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TTTGCACCTCGCTGCTCCAGC	0.617													3	1					0	0	0	0	A	30688164	G	A	30688164	1	1	43	1	0	0	0	0	0	0	0	0	16848	1102	38	1		1	TUBB	6	30688164	Translation_Start_Site	SNP	G	TCGA-BB-7862-01A-21D-2229-08	16554219	30688164	140426903	181	8080											
DDR1	780	broad.mit.edu	37	chr6	30861116	30861116	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaccgccatcctcatcggCtgcctggtggccatcatcct	5	9	9	18	3	2	0	2	0	0	0	5	1	4	0	7	3	1	1	7	3	0	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:30861116C>G	ENST00000324771.8	+	12	1811	c.1263C>G	c.(1261-1263)ggC>ggG	p.G421G	DDR1_ENST00000376569.3_Silent_p.G421G|DDR1_ENST00000376567.2_Silent_p.G421G|DDR1_ENST00000452441.1_Silent_p.G421G|DDR1_ENST00000418800.2_Silent_p.G421G|DDR1_ENST00000376575.3_Silent_p.G421G|DDR1_ENST00000454612.2_Silent_p.G421G|DDR1_ENST00000376568.3_Silent_p.G421G|DDR1_ENST00000513240.1_Silent_p.G421G|DDR1_ENST00000376570.4_Silent_p.G421G|DDR1_ENST00000508312.1_Silent_p.G439G|DDR1_ENST00000361741.4_Silent_p.G152G|DDR1_ENST00000446312.1_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	421					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TCCTCATCGGCTGCCTGGTGG	0.682													9	6					0	0	0	0	G	30861116	C	G	30861116	2	3	43	1	0	0	0	0	0	0	0	1	4368	784	28	4		4	DDR1	6	30861116	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	172952	30861116	140253951	182	8081											
DNAH8	1769	broad.mit.edu	37	chr6	38863890	38863890	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattggctctgatgcagcGtcgtgtattcttcctgaacc	8	14	9	10	2	2	2	0	2	2	0	4	2	3	2	2	1	3	3	2	1	4	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:38863890G>A	ENST00000359357.3	+	58	8432	c.8178G>A	c.(8176-8178)gcG>gcA	p.A2726A	DNAH8_ENST00000441566.1_Silent_p.A2690A|DNAH8_ENST00000449981.2_Silent_p.A2943A					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGATGCAGCGTCGTGTATTC	0.403													31	15					0	0	0	0	A	38863890	G	A	38863890	2	1	43	1	0	0	0	0	0	0	0	1	4643	1132	40	1		1	DNAH8	6	38863890	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	8002774	38863890	132251177	183	8082											
TFAP2D	83741	broad.mit.edu	37	chr6	50696657	50696657	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctacttccaaatacaaggtGaccattgctgaggtaaagag	14	10	9	8	0	1	3	0	2	1	1	2	3	2	3	2	2	3	2	2	2	6	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:50696657G>A	ENST00000008391.3	+	4	915	c.687G>A	c.(685-687)gtG>gtA	p.V229V	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	229							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AATACAAGGTGACCATTGCTG	0.493													30	20					0	0	0	0	A	50696657	G	A	50696657	2	1	43	1	0	0	0	0	0	0	0	1	15884	1277	45	2		2	TFAP2D	6	50696657	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	11832767	50696657	120418410	184	8083											
TFAP2B	7021	broad.mit.edu	37	chr6	50803977	50803977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaatgcatctctcctcGgcggagtcctcagaaggtaa	9	9	10	13	2	3	1	2	0	1	1	7	2	5	2	3	3	1	2	3	3	3	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:50803977G>A	ENST00000263046.4	+	5	998	c.832G>A	c.(832-834)Ggc>Agc	p.G278S	TFAP2B_ENST00000393655.3_Missense_Mutation_p.G269S			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	269					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ATCTCTCCTCGGCGGAGTCCT	0.448													11	2					0	0	0	0	A	50803977	G	A	50803977	3	1	43	1	0	0	0	0	1	0	0	0	15882	1116	39	1	819	1	TFAP2B	6	50803977	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	107320	50803977	120311090	185	8084											
PKHD1	5314	broad.mit.edu	37	chr6	51893046	51893046	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacctccaggccccaagcCgactgtgtgtgaaccggagc	8	5	12	16	2	0	1	0	1	0	0	1	3	1	2	7	2	3	0	7	2	2	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:51893046C>G	ENST00000371117.3	-	30	3743	c.3468G>C	c.(3466-3468)tcG>tcC	p.S1156S	PKHD1_ENST00000340994.4_Silent_p.S1156S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1156	IPT/TIG 6; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCCCCAAGCCGACTGTGTGT	0.572													55	23					0	0	0	0	G	51893046	C	G	51893046	2	3	43	1	0	0	0	0	0	0	0	1	12043	639	23	3		3	PKHD1	6	51893046	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1089069	51893046	119222021	186	8085											
SYNCRIP	10492	broad.mit.edu	37	chr6	86324617	86324617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgattattggtctggcgccGcttggaatctggctggttgt	4	15	14	8	2	2	1	0	1	2	0	2	2	2	2	1	5	0	3	1	5	2	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:86324617G>A	ENST00000369622.3	-	11	2229	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	RP11-321N4.5_ENST00000503906.1_Intron|SYNCRIP_ENST00000355238.6_Intron	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	577					CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GTCTGGCGCCGCTTGGAATCT	0.542													68	158					0	0	0	0	A	86324617	G	A	86324617	3	1	43	1	0	0	0	0	1	0	0	0	15535	1086	38	1	192	1	SYNCRIP	6	86324617	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	34431571	86324617	84790450	187	8086											
MCHR2	84539	broad.mit.edu	37	chr6	100390887	100390887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaacaccgtctttaaatttGatgaccttcgagtagaccca	12	12	6	11	2	2	3	1	2	1	1	3	4	2	3	3	0	1	1	3	0	4	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:100390887G>C	ENST00000281806.2	-	4	839	c.525C>G	c.(523-525)atC>atG	p.I175M	MCHR2_ENST00000369212.1_Missense_Mutation_p.I175M|MCHR2_ENST00000445970.1_Missense_Mutation_p.I175M	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	175						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTTTAAATTTGATGACCTTCG	0.433													32	107					0	0	0	0	C	100390887	G	C	100390887	3	2	43	1	0	0	0	0	1	0	0	0	9452	1280	45	2	509	2	MCHR2	6	100390887	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	14066270	100390887	70724180	188	8087											
SIM1	6492	broad.mit.edu	37	chr6	100841606	100841606	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccatagcagagagagcTgcggtccgaaaactgtctgt	13	7	12	9	2	1	2	0	0	1	2	2	4	2	2	2	1	5	2	2	1	4	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:100841606T>A	ENST00000369208.3	-	11	2109	c.1327A>T	c.(1327-1329)Agc>Tgc	p.S443C	SIM1_ENST00000262901.4_Missense_Mutation_p.S443C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	443	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CAGAGAGAGCTGCGGTCCGAA	0.622													51	34					0	0	0	0	A	100841606	T	A	100841606	3	1	43	1	0	0	0	0	1	0	0	0	14411	1580	55	5	981	5	SIM1	6	100841606	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	450719	100841606	70273461	189	8088											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111912698	111912698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggggctgggaatcatatcCcgtgtctatggttggcagat	7	12	14	8	1	2	1	1	0	1	1	3	2	3	2	1	5	0	3	1	5	3	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:111912698C>T	ENST00000368761.5	-	2	1070	c.592G>A	c.(592-594)Gga>Aga	p.G198R	TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.G207R|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.G198R	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	207					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GAATCATATCCCGTGTCTATG	0.622													34	80					0	0	0	0	T	111912698	C	T	111912698	3	4	43	1	0	0	0	0	1	0	0	0	16536	632	22	4	1137	4	TRAF3IP2	6	111912698	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	11071092	111912698	59202369	190	8089											
ROS1	6098	broad.mit.edu	37	chr6	117710680	117710680	+	Missense_Mutation	SNP	C	C	A																															ctatgtgactcaggtcacatCccacgatgaattcattaaaa																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:117710680C>A	ENST00000368508.3	-	12	1790	c.1592G>T	c.(1591-1593)gGa>gTa	p.G531V	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G540V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	531					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAGGTCACATCCCACGATGAA	0.458			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								20	37					3.51602e-12	4.36414e-12	1	0	A	117710680	C	A	117710680	3	1	43	1	0	0	0	0	1	0	0	0	13616	855	30	2	5579	2	ROS1	6	117710680	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	5797982	117710680	53404387	191	8090	66	2									
ROS1	6098	broad.mit.edu	37	chr6	117710681	117710681	+	Nonsense_Mutation	SNP	C	C	A																															tatgtgactcaggtcacatcCcacgatgaattcattaaaag																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:117710681C>A	ENST00000368508.3	-	12	1789	c.1591G>T	c.(1591-1593)Gga>Tga	p.G531*	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.G540*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	531					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGTCACATCCCACGATGAAT	0.458			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								20	39					3.51602e-12	4.36414e-12	1	0	A	117710681	C	A	117710681	4	1	43	1	0	0	0	0	0	1	0	0	13616	632	22	4	5580	4	ROS1	6	117710681	Nonsense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1	117710681	53404386	192	8091	66	2									
LAMA2	3908	broad.mit.edu	37	chr6	129714237	129714237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagaagctgtttggagagtCccggggggaaaatgaagaaa	15	6	16	4	1	0	4	0	1	0	3	1	7	1	5	1	4	1	2	1	4	6	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:129714237C>T	ENST00000421865.2	+	37	5331	c.5282C>T	c.(5281-5283)tCc>tTc	p.S1761F		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1761	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTGGAGAGTCCCGGGGGGAA	0.468													24	32					0	0	0	0	T	129714237	C	T	129714237	3	4	43	1	0	0	0	0	1	0	0	0	8659	855	30	2	5428	2	LAMA2	6	129714237	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	12003556	129714237	41400830	193	8092											
AKAP7	9465	broad.mit.edu	37	chr6	131520611	131520611	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcttcagagactgcaaaTaggacatttcaagaaaaagg	16	11	8	6	0	3	2	2	0	1	2	3	4	3	3	0	2	1	1	0	2	5	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:131520611T>C	ENST00000431975.2	+	6	698	c.600T>C	c.(598-600)aaT>aaC	p.N200N	AKAP7_ENST00000541650.1_Silent_p.N199N|AKAP7_ENST00000368123.4_Silent_p.N178N	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AGACTGCAAATAGGACATTTC	0.348													25	35					0	0	0	0	C	131520611	T	C	131520611	2	2	43	1	0	0	0	0	0	0	0	1	456	1403	49	5		5	AKAP7	6	131520611	Silent	SNP	T	TCGA-BB-7862-01A-21D-2229-08	1806374	131520611	39594456	194	8093											
BCLAF1	9774	broad.mit.edu	37	chr6	136593166	136593166	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttaaaaactctctcttcCcctgctaaacgggtatgctt	9	15	5	12	1	3	0	0	0	3	0	5	0	4	0	2	1	4	3	2	1	6	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:136593166C>T	ENST00000531224.1	-	8	2262	c.2010G>A	c.(2008-2010)ggG>ggA	p.G670G	BCLAF1_ENST00000527536.1_Silent_p.G670G|BCLAF1_ENST00000392348.2_Silent_p.G668G|BCLAF1_ENST00000353331.4_Silent_p.G668G|BCLAF1_ENST00000530767.1_Silent_p.G497G|BCLAF1_ENST00000527759.1_Silent_p.G668G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	670					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTCTCTCTTCCCCTGCTAAAC	0.289													6	65					0	0	0	0	T	136593166	C	T	136593166	2	4	43	1	0	0	0	0	0	0	0	1	1387	610	22	4		4	BCLAF1	6	136593166	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	5072555	136593166	34521901	195	8094											
BCLAF1	9774	broad.mit.edu	37	chr6	136597448	136597448	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactgtctataatcctcTgtctcctctgtgtcatcccc	6	15	5	15	0	5	1	1	1	4	0	8	1	7	1	4	0	1	0	4	0	3	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:136597448T>A	ENST00000531224.1	-	5	1467	c.1215A>T	c.(1213-1215)acA>acT	p.T405T	BCLAF1_ENST00000527536.1_Silent_p.T405T|BCLAF1_ENST00000392348.2_Silent_p.T403T|BCLAF1_ENST00000353331.4_Silent_p.T403T|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Silent_p.T403T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	405					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TATAATCCTCTGTCTCCTCTG	0.433													58	287					0	0	0	0	A	136597448	T	A	136597448	2	1	43	1	0	0	0	0	0	0	0	1	1387	1567	55	5		5	BCLAF1	6	136597448	Silent	SNP	T	TCGA-BB-7862-01A-21D-2229-08	4282	136597448	34517619	196	8095											
GRM1	2911	broad.mit.edu	37	chr6	146755255	146755255	+	Missense_Mutation	SNP	C	C	A																															cccagccgattcgctttagcCcgcctggtagcccttccatg																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:146755255C>A	ENST00000361719.2	+	9	3378	c.2908C>A	c.(2908-2910)Ccg>Acg	p.P970T	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P970T|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	970					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCGCTTTAGCCCGCCTGGTAG	0.617													39	81					1.60099e-16	2.1003e-16	1	0	A	146755255	C	A	146755255	3	1	43	1	0	0	0	0	1	0	0	0	6846	623	22	4	3003	4	GRM1	6	146755255	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	10157807	146755255	24359812	197	8096	67	2									
GRM1	2911	broad.mit.edu	37	chr6	146755256	146755256	+	Missense_Mutation	SNP	C	C	A																															ccagccgattcgctttagccCgcctggtagcccttccatgg																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:146755256C>A	ENST00000361719.2	+	9	3379	c.2909C>A	c.(2908-2910)cCg>cAg	p.P970Q	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P970Q|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	970					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.P970Q(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGCTTTAGCCCGCCTGGTAGC	0.622													39	80					2.87052e-16	3.73802e-16	1	0	A	146755256	C	A	146755256	3	1	43	1	0	0	0	0	1	0	0	0	6846	652	23	3	3004	3	GRM1	6	146755256	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1	146755256	24359811	198	8097	67	2									
SYNE1	23345	broad.mit.edu	37	chr6	152772324	152772324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgaagcaaatgataagggGcttctccttgaagatcctac	13	10	10	8	0	1	4	0	3	1	1	3	5	2	4	2	2	2	2	2	2	5	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:152772324G>T	ENST00000367255.5	-	26	3645	c.3044C>A	c.(3043-3045)gCc>gAc	p.A1015D	SYNE1_ENST00000341594.5_Missense_Mutation_p.A1081D|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1015D|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1015D|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1015D|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1005D|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1022D|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1022D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1015					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGATAAGGGGCTTCTCCTTG	0.393										HNSCC(10;0.0054)			19	42					6.94344e-10	8.19605e-10	1	0	T	152772324	G	T	152772324	3	4	43	1	0	0	0	0	1	0	0	0	15536	1203	42	4	23906	4	SYNE1	6	152772324	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	6017068	152772324	18342743	199	8098											
SYNE1	23345	broad.mit.edu	37	chr6	152792750	152792750	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacgtagttttgtagaagCtgctccactgactctctcct	8	13	7	13	1	1	2	0	1	1	1	4	2	3	2	3	0	2	5	3	0	3	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:152792750C>G	ENST00000367255.5	-	16	2215	c.1614G>C	c.(1612-1614)caG>caC	p.Q538H	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q545H|SYNE1_ENST00000495090.2_Missense_Mutation_p.Q105H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q538H|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q538H|SYNE1_ENST00000466159.2_Missense_Mutation_p.Q538H|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q538H|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q528H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q545H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q545H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	538					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGTAGAAGCTGCTCCACTG	0.433										HNSCC(10;0.0054)			48	81					0	0	0	0	G	152792750	C	G	152792750	3	3	43	1	0	0	0	0	1	0	0	0	15536	796	28	4	25376	4	SYNE1	6	152792750	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	20426	152792750	18322317	200	8099											
SYNJ2	8871	broad.mit.edu	37	chr6	158510920	158510920	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttataatgtcaagcagatcaAaaccaccaatgcccaggagg	16	7	8	10	0	2	1	2	0	0	1	2	2	2	2	3	2	3	1	3	2	6	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:158510920A>T	ENST00000355585.4	+	25	3581	c.3506A>T	c.(3505-3507)aAa>aTa	p.K1169I	SYNJ2_ENST00000367122.2_Missense_Mutation_p.K1124I|SYNJ2_ENST00000367112.1_Missense_Mutation_p.K254I|SYNJ2_ENST00000367121.3_Missense_Mutation_p.K1169I	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1169							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AAGCAGATCAAAACCACCAAT	0.522													4	1					0	0	0	0	T	158510920	A	T	158510920	3	4	43	1	0	0	0	0	1	0	0	0	15544	14	1	5	3604	5	SYNJ2	6	158510920	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	5718170	158510920	12604147	201	8100											
FNDC1	84624	broad.mit.edu	37	chr6	159654497	159654497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcgtccgcccgcagcaCggtcacagcagcatcccagt	7	6	10	18	4	1	0	1	0	0	0	4	0	3	0	3	1	4	5	3	1	0	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:159654497C>T	ENST00000297267.9	+	11	3153	c.2953C>T	c.(2953-2955)Cgg>Tgg	p.R985W	FNDC1_ENST00000340366.6_Missense_Mutation_p.R922W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	985						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCGCAGCACGGTCACAGCA	0.677													12	7					0	0	0	0	T	159654497	C	T	159654497	3	4	43	1	0	0	0	0	1	0	0	0	6013	527	19	1	2995	1	FNDC1	6	159654497	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1143577	159654497	11460570	202	8101											
PDE10A	10846	broad.mit.edu	37	chr6	165792847	165792847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagtggagaagatattgtgCccttccaactagggaaaaaa	16	8	11	6	0	0	3	0	0	0	3	1	5	1	4	2	2	2	0	2	2	7	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:165792847C>T	ENST00000366882.1	-	19	1945	c.1791G>A	c.(1789-1791)ggG>ggA	p.G597G	PDE10A_ENST00000539869.2_Silent_p.G607G|PDE10A_ENST00000354448.4_Silent_p.G597G			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	597					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGATATTGTGCCCTTCCAACT	0.378													19	43					0	0	0	0	T	165792847	C	T	165792847	2	4	43	1	0	0	0	0	0	0	0	1	11701	726	26	4		4	PDE10A	6	165792847	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	6138350	165792847	5322220	203	8102											
C6orf120	387263	broad.mit.edu	37	chr6	170102778	170102784	+	Frame_Shift_Del	DEL	GATGCGG	GATGCGG	-																															ggatgcgcagcctcaagggaGatgcggatctgtacgtctcc																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:170102778_170102784delGATGCGG	ENST00000332290.2	+	1	522_528	c.223_229delGATGCGG	c.(223-231)atfs	p.DAD75fs	C6orf120_ENST00000439249.1_Frame_Shift_Del_p.DAD94fs	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	75						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		CCTCAAGGGAGATGCGGATCTGTACGT	0.652													11	28	---	---	---	---					-	170102784	GATGCGG	-	170102778	7	5	43	1	0	1	0	1	0	0	0	0	2345	942	33	0	225	0	C6orf120	6	170102778	Frame_Shift_Del	DEL	GATGCGG	TCGA-BB-7862-01A-21D-2229-08	4309931	170102778	1012289	204	8103											
EIF2AK1	27102	broad.mit.edu	37	chr7	6080705	6080705	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttcaccagattctcttaTgactaaattggtggtgtact	11	15	8	7	0	2	2	1	1	1	1	3	2	2	2	1	2	1	2	1	2	5	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:6080705T>A	ENST00000199389.6	-	9	1083	c.937A>T	c.(937-939)Ata>Tta	p.I313L	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.I189L|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	313	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GATTCTCTTATGACTAAATTG	0.458													70	105					0	0	0	0	A	6080705	T	A	6080705	3	1	43	1	0	0	0	0	1	0	0	0	5032	1464	51	5	983	5	EIF2AK1	7	6080705	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08		6080705	153057958	205	8104											
THSD7A	221981	broad.mit.edu	37	chr7	11450926	11450926	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccacaaactgccttctCactcagctgacatgtactcc	10	12	4	15	0	2	1	2	1	1	0	5	1	4	1	3	0	4	2	3	0	2	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:11450926C>A	ENST00000423059.3	-	19	3957	c.3706G>T	c.(3706-3708)Gag>Tag	p.E1236*	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1236	TSP type-1 12.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACTGCCTTCTCACTCAGCTGA	0.413										HNSCC(18;0.044)			13	35					7.03913e-09	8.07519e-09	1	0	A	11450926	C	A	11450926	4	1	43	1	0	0	0	0	0	1	0	0	15973	835	29	2	1307	2	THSD7A	7	11450926	Nonsense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	5370221	11450926	147687737	206	8105											
THSD7A	221981	broad.mit.edu	37	chr7	11500374	11500374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggactaattggcatctgcgCcatttgtgagtcttccacct	7	13	10	11	1	2	1	0	1	2	0	3	2	3	2	3	2	1	1	3	2	1	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:11500374C>A	ENST00000423059.3	-	11	2771	c.2520G>T	c.(2518-2520)tgG>tgT	p.W840C	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	840						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGCATCTGCGCCATTTGTGAG	0.547										HNSCC(18;0.044)			4	6					0.150653	0.151799	1	0	A	11500374	C	A	11500374	3	1	43	1	0	0	0	0	1	0	0	0	15973	740	26	4	2521	4	THSD7A	7	11500374	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	49448	11500374	147638289	207	8106											
HDAC9	9734	broad.mit.edu	37	chr7	18788696	18788696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attccaccacccaccctgagCatgctggacgaatacagagt	12	7	8	14	1	0	2	0	1	0	1	1	4	1	3	4	1	3	2	4	1	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:18788696C>A	ENST00000406451.3	+	14	2119	c.1969C>A	c.(1969-1971)Cat>Aat	p.H657N	HDAC9_ENST00000432645.2_Missense_Mutation_p.H657N|HDAC9_ENST00000441542.2_Missense_Mutation_p.H660N|HDAC9_ENST00000401921.1_Missense_Mutation_p.H616N	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	657	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCACCCTGAGCATGCTGGACG	0.448													9	9					0.000274275	0.000287853	1	0	A	18788696	C	A	18788696	3	1	43	1	0	0	0	0	1	0	0	0	7064	710	25	4	2079	4	HDAC9	7	18788696	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	7288322	18788696	140349967	208	8107											
DNAH11	8701	broad.mit.edu	37	chr7	21654860	21654860	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaataaaattgctcaaGggactgtgggatgtcattat	16	11	10	4	0	2	1	2	0	0	1	2	3	2	3	0	2	1	1	0	2	6	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:21654860G>A	ENST00000328843.6	+	21	4012	c.3981G>A	c.(3979-3981)aaG>aaA	p.K1327K	DNAH11_ENST00000409508.3_Silent_p.K1327K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1327	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATTGCTCAAGGGACTGTGGG	0.353									Kartagener syndrome				18	36					0	0	0	0	A	21654860	G	A	21654860	2	1	43	1	0	0	0	0	0	0	0	1	4636	991	35	4		4	DNAH11	7	21654860	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2866164	21654860	137483803	209	8108											
AMPH	273	broad.mit.edu	37	chr7	38574590	38574590	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtcttttgtctcatcagCtttccccagcttttggagga	5	17	8	11	1	3	0	2	0	2	0	6	2	4	2	2	2	2	2	2	2	0	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:38574590C>A	ENST00000356264.2	-	2	306	c.91G>T	c.(91-93)Gct>Tct	p.A31S	AMPH_ENST00000428293.2_Missense_Mutation_p.A31S|AMPH_ENST00000325590.5_Missense_Mutation_p.A31S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	31	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTCTCATCAGCTTTCCCCAGC	0.348													13	18					0.00185496	0.00193149	1	0	A	38574590	C	A	38574590	3	1	43	1	0	0	0	0	1	0	0	0	588	797	28	4	2076	4	AMPH	7	38574590	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	16919730	38574590	120564073	210	8109											
ZNF716	441234	broad.mit.edu	37	chr7	57529304	57529304	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatactggagagaaaccCtacacttgtgaagaatgtgg	14	10	10	7	0	1	3	1	1	0	2	1	5	1	4	1	2	3	0	1	2	5	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:57529304C>T	ENST00000420713.1	+	4	1249	c.1137C>T	c.(1135-1137)ccC>ccT	p.P379P		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GAGAGAAACCCTACACTTGTG	0.413													12	15					0	0	0	0	T	57529304	C	T	57529304	2	4	43	1	0	0	0	0	0	0	0	1	18214	668	24	4		4	ZNF716	7	57529304	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	18954714	57529304	101609359	211	8110											
NSUN5	55695	broad.mit.edu	37	chr7	72717963	72717963	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctcgctgctggaacccTgccagggcatgcagacgcac	8	5	14	14	2	0	1	0	0	0	1	1	2	0	2	2	3	4	6	2	3	1	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:72717963T>A	ENST00000428206.1	-	8	904	c.891A>T	c.(889-891)gcA>gcT	p.A297A	NSUN5_ENST00000310326.8_Silent_p.A335A|NSUN5_ENST00000252594.6_Silent_p.A335A|NSUN5_ENST00000438747.2_Silent_p.A335A	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	335							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GCTGGAACCCTGCCAGGGCAT	0.622													23	37					0	0	0	0	A	72717963	T	A	72717963	2	1	43	1	0	0	0	0	0	0	0	1	10752	1567	55	5		5	NSUN5	7	72717963	Silent	SNP	T	TCGA-BB-7862-01A-21D-2229-08	15188659	72717963	86420700	212	8111											
GRM3	2913	broad.mit.edu	37	chr7	86415998	86415998	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccaatgcctccttcacctGggtggccagcgacggctggg	5	7	14	15	3	1	0	1	0	0	0	2	1	2	0	5	4	2	1	5	4	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:86415998G>C	ENST00000361669.2	+	3	1989	c.890G>C	c.(889-891)tGg>tCg	p.W297S	GRM3_ENST00000439827.1_Missense_Mutation_p.W297S|GRM3_ENST00000394720.2_Missense_Mutation_p.W295S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.W169S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	297					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCCTTCACCTGGGTGGCCAGC	0.682													27	35					0	0	0	0	C	86415998	G	C	86415998	3	2	43	1	0	0	0	0	1	0	0	0	6848	1357	47	4	896	4	GRM3	7	86415998	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	13698035	86415998	72722665	213	8112											
PON1	5444	broad.mit.edu	37	chr7	94940875	94940875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatggttcaccaccaggaGgtacatggcattatctgaga	11	10	12	8	0	2	1	1	1	1	1	2	4	2	3	2	5	1	3	2	5	2	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:94940875G>A	ENST00000222381.3	-	5	616	c.385C>T	c.(385-387)Ctc>Ttc	p.L129F	PON1_ENST00000542556.1_Missense_Mutation_p.L129F	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	129					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ACCACCAGGAGGTACATGGCA	0.393													25	53					0	0	0	0	A	94940875	G	A	94940875	3	1	43	1	0	0	0	0	1	0	0	0	12320	1000	35	4	702	4	PON1	7	94940875	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	8524877	94940875	64197788	214	8113											
PON1	5444	broad.mit.edu	37	chr7	94944689	94944689	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgaagatacatcaaatttActtccagtgatccccaattc	15	12	4	10	0	1	3	1	2	0	1	4	3	3	3	3	0	2	0	3	0	6	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:94944689A>T	ENST00000222381.3	-	4	546	c.315T>A	c.(313-315)agT>agA	p.S105R	PON1_ENST00000542556.1_Missense_Mutation_p.S105R	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	105					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CATCAAATTTACTTCCAGTGA	0.358													12	17					0	0	0	0	T	94944689	A	T	94944689	3	4	43	1	0	0	0	0	1	0	0	0	12320	388	14	5	776	5	PON1	7	94944689	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	3814	94944689	64193974	215	8114											
CYP3A4	1576	broad.mit.edu	37	chr7	99367466	99367466	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacatctccatactgggcaAtgatagggaccatctaagca	14	8	8	11	0	2	1	0	1	2	0	3	2	2	2	2	2	2	2	2	2	4	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:99367466A>G	ENST00000336411.2	-	6	629	c.446T>C	c.(445-447)aTt>aCt	p.I149T	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	149					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ATACTGGGCAATGATAGGGAC	0.498													45	71					0	0	0	0	G	99367466	A	G	99367466	3	3	43	1	0	0	0	0	1	0	0	0	4210	101	4	5	1097	5	CYP3A4	7	99367466	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	4422777	99367466	59771197	216	8115											
ACTL6B	51412	broad.mit.edu	37	chr7	100253085	100253085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgacctccgctccatccCgaggcacgtgcagggcattg	8	7	11	15	3	0	1	0	1	0	0	3	2	3	1	4	2	1	4	4	2	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:100253085C>A	ENST00000160382.5	-	3	333	c.227G>T	c.(226-228)cGg>cTg	p.R76L		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	76	Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity).				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCTCCATCCCGAGGCACGTG	0.627													6	65					3.59834e-05	3.86056e-05	1	0	A	100253085	C	A	100253085	3	1	43	1	0	0	0	0	1	0	0	0	199	652	23	3	1101	3	ACTL6B	7	100253085	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	885619	100253085	58885578	217	8116											
SERPINE1	5054	broad.mit.edu	37	chr7	100776987	100776987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacagctgagttcaccAcgcccgatggccattactac	9	10	7	15	2	3	1	2	1	1	0	3	2	3	1	3	1	3	2	3	1	2	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:100776987A>G	ENST00000223095.4	+	5	869	c.712A>G	c.(712-714)Acg>Gcg	p.T238A	SERPINE1_ENST00000445463.2_Missense_Mutation_p.T223A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	238					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TGAGTTCACCACGCCCGATGG	0.547													38	43					0	0	0	0	G	100776987	A	G	100776987	3	3	43	1	0	0	0	0	1	0	0	0	14198	159	6	5	726	5	SERPINE1	7	100776987	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	523902	100776987	58361676	218	8117											
TMEM168	64418	broad.mit.edu	37	chr7	112423756	112423756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaaacaataagcttacctgCcaggaaactgctcccaaaat	17	7	5	12	0	0	0	0	0	0	0	1	1	1	1	3	1	6	2	3	1	7	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:112423756C>A	ENST00000312814.5	-	2	1685	c.1125G>T	c.(1123-1125)tgG>tgT	p.W375C	TMEM168_ENST00000454074.1_Missense_Mutation_p.W375C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	375						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AGCTTACCTGCCAGGAAACTG	0.398													29	67					2.61193e-14	3.31178e-14	1	0	A	112423756	C	A	112423756	3	1	43	1	0	0	0	0	1	0	0	0	16177	740	26	4	984	4	TMEM168	7	112423756	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	11646769	112423756	46714907	219	8118											
SLC35B4	84912	broad.mit.edu	37	chr7	133979788	133979788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtgacggtgagggaggCgcattctgtggtgaggataa	9	8	19	5	3	1	3	0	3	1	0	1	6	1	5	0	5	1	1	0	5	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:133979788C>A	ENST00000378509.4	-	10	1092	c.793G>T	c.(793-795)Gcc>Tcc	p.A265S	SLC35B4_ENST00000466599.1_Intron	NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	265						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						GTGAGGGAGGCGCATTCTGTG	0.532													69	125					2.97844e-56	4.45925e-56	1	0	A	133979788	C	A	133979788	3	1	43	1	0	0	0	0	1	0	0	0	14666	768	27	3	206	3	SLC35B4	7	133979788	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	21556032	133979788	25158875	220	8119											
SLC13A4	26266	broad.mit.edu	37	chr7	135378956	135378956	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttcccttttggtcttcttCttcttgctcagagagcaggt	4	18	9	10	0	5	1	1	0	4	1	6	2	6	1	1	2	2	3	1	2	0	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:135378956C>G	ENST00000354042.4	-	10	1736	c.1047G>C	c.(1045-1047)aaG>aaC	p.K349N		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	349						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						TGGTCTTCTTCTTCTTGCTCA	0.403													31	46					0	0	0	0	G	135378956	C	G	135378956	3	3	43	1	0	0	0	0	1	0	0	0	14482	912	32	2	861	2	SLC13A4	7	135378956	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1399168	135378956	23759707	221	8120											
KLRG2	346689	broad.mit.edu	37	chr7	139168171	139168171	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcggggacccggggcgaGgcgaaggcggctttttcttg	4	7	19	11	7	1	0	0	0	1	0	1	3	1	1	1	7	0	1	1	7	1	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:139168171G>C	ENST00000340940.4	-	1	287	c.218C>G	c.(217-219)cCt>cGt	p.P73R	KLRG2_ENST00000393039.2_Missense_Mutation_p.P73R	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	73	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CCCGGGGCGAGGCGAAGGCGG	0.731													13	12					0	0	0	0	C	139168171	G	C	139168171	3	2	43	1	0	0	0	0	1	0	0	0	8474	1000	35	4	1031	4	KLRG2	7	139168171	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	3789215	139168171	19970492	222	8121											
OR6V1	346517	broad.mit.edu	37	chr7	142750181	142750181	+	Frame_Shift_Del	DEL	C	C	-																															cacctcacactggtcttcatCggctacagtagtaccatctt																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:142750181delC	ENST00000418316.1	+	1	765	c.744delC	c.(742-744)atfs	p.I248fs		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TGGTCTTCATCGGCTACAGTA	0.552													52	86	---	---	---	---					-	142750181	C	-	142750181	7	5	43	1	0	1	0	1	0	0	0	0	11282	874	31	0	746	0	OR6V1	7	142750181	Frame_Shift_Del	DEL	C	TCGA-BB-7862-01A-21D-2229-08	3582010	142750181	16388482	223	8122											
TMEM176B	28959	broad.mit.edu	37	chr7	150490256	150490256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatccatctgtacccagTggtagggaagacagggtctg	9	8	13	11	1	2	1	0	0	2	1	3	2	3	2	3	3	1	3	3	3	3	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:150490256T>C	ENST00000447204.2	-	5	892	c.520A>G	c.(520-522)Act>Gct	p.T174A	TMEM176B_ENST00000434545.1_Missense_Mutation_p.T174A|TMEM176B_ENST00000326442.5_Missense_Mutation_p.T174A|TMEM176B_ENST00000450753.2_Missense_Mutation_p.T137A|TMEM176B_ENST00000492607.1_Missense_Mutation_p.T174A|TMEM176B_ENST00000429904.2_Missense_Mutation_p.T174A	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	174					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)		CTGTACCCAGTGGTAGGGAAG	0.512													26	38					0	0	0	0	C	150490256	T	C	150490256	3	2	43	1	0	0	0	0	1	0	0	0	16187	1696	59	5	304	5	TMEM176B	7	150490256	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	7740075	150490256	8648407	224	8123											
RNF32	140545	broad.mit.edu	37	chr7	156450872	156450872	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataagaaaacctgtcctctCtgtagaaagaaccagtatca	17	9	6	9	0	2	3	1	0	1	3	4	3	3	3	3	0	2	2	3	0	8	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:156450872C>T	ENST00000392741.2	+	5	589	c.501C>T	c.(499-501)ctC>ctT	p.L167L	RNF32_ENST00000432459.2_Silent_p.L167L|RNF32_ENST00000480011.1_Intron|RNF32_ENST00000343665.4_Intron|RNF32_ENST00000317955.5_Silent_p.L167L|RNF32_ENST00000311822.8_Silent_p.L167L|RNF32_ENST00000392743.2_Silent_p.L167L|RNF32_ENST00000405335.1_Silent_p.L167L			Q9H0A6	RNF32_HUMAN	ring finger protein 32	167						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCTGTCCTCTCTGTAGAAAGA	0.428													19	28					0	0	0	0	T	156450872	C	T	156450872	2	4	43	1	0	0	0	0	0	0	0	1	13573	900	32	2		2	RNF32	7	156450872	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	5960616	156450872	2687791	225	8124											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37729787	37729787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgtcagacgcgtttccagCaacagaccatgcagggttca	10	8	10	13	3	2	2	2	0	0	2	4	2	4	2	3	1	3	4	3	1	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:37729787C>A	ENST00000330843.4	-	4	2545	c.2533G>T	c.(2533-2535)Gct>Tct	p.A845S	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	845					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCGTTTCCAGCAACAGACCAT	0.622													81	24					5.00163e-47	7.40465e-47	1	0	A	37729787	C	A	37729787	3	1	43	1	0	0	0	0	1	0	0	0	12975	710	25	4	1330	4	RAB11FIP1	8	37729787	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08		37729787	108634235	226	8125											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37756684	37756684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcagcgcgcggtgcagCacggtgagctgcagggtggc	6	4	19	12	5	0	1	0	1	0	0	0	2	0	1	1	4	6	5	1	4	0	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:37756684C>T	ENST00000330843.4	-	1	288	c.276G>A	c.(274-276)gtG>gtA	p.V92V	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Silent_p.V92V	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	92	C2.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CGCGGTGCAGCACGGTGAGCT	0.741													16	5					0	0	0	0	T	37756684	C	T	37756684	2	4	43	1	0	0	0	0	0	0	0	1	12975	697	25	4		4	RAB11FIP1	8	37756684	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	26897	37756684	108607338	227	8126											
ANK1	286	broad.mit.edu	37	chr8	41529901	41529901	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctctccgtcacctgactCacggtgggggaatgtgtgat	6	11	12	12	2	3	2	2	2	1	0	5	3	4	3	3	3	0	0	3	3	1	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:41529901C>G	ENST00000396942.1	-	38	5150	c.5067G>C	c.(5065-5067)gtG>gtC	p.V1689V	ANK1_ENST00000396945.1_Silent_p.V1689V|ANK1_ENST00000347528.4_Silent_p.V1689V|ANK1_ENST00000289734.7_Silent_p.V1689V|ANK1_ENST00000352337.4_Silent_p.V1689V|ANK1_ENST00000379758.2_Silent_p.V1689V|ANK1_ENST00000265709.8_Silent_p.V1730V			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1689	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCACCTGACTCACGGTGGGGG	0.562													43	201					0	0	0	0	G	41529901	C	G	41529901	2	3	43	1	0	0	0	0	0	0	0	1	620	813	29	2		2	ANK1	8	41529901	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	3773217	41529901	104834121	228	8127											
NPBWR1	2831	broad.mit.edu	37	chr8	53853443	53853443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgataacttgccgcGcggcagcctgactcccccag	7	6	11	17	3	0	2	0	2	0	0	1	2	1	2	5	1	4	2	5	1	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:53853443G>T	ENST00000331251.3	+	1	2453	c.976G>T	c.(976-978)Gcg>Tcg	p.A326S		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	326					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				AACTTGCCGCGCGGCAGCCTG	0.697													11	19					3.07112e-06	3.36996e-06	1	0	T	53853443	G	T	53853443	3	4	43	1	0	0	0	0	1	0	0	0	10638	1087	38	3	978	3	NPBWR1	8	53853443	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	12323542	53853443	92510579	229	8128											
RP1	6101	broad.mit.edu	37	chr8	55539327	55539327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgatccccatacaaattctgGaaaaataagtaattttgtta	16	14	5	6	0	1	1	0	1	1	0	2	2	2	2	2	1	1	2	2	1	7	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:55539327G>A	ENST00000220676.1	+	4	3033	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	962					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAAATTCTGGAAAAATAAGT	0.313													20	30					0	0	0	0	A	55539327	G	A	55539327	3	1	43	1	0	0	0	0	1	0	0	0	13617	1174	41	2	2895	2	RP1	8	55539327	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1685884	55539327	90824695	230	8129											
EYA1	2138	broad.mit.edu	37	chr8	72246403	72246403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgctgctcattggctctGttttaactacaaaaataaac	13	13	5	10	0	2	0	1	0	1	0	2	0	2	0	0	1	5	4	0	1	6	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:72246403G>C	ENST00000340726.3	-	4	770	c.131C>G	c.(130-132)aCa>aGa	p.T44R	EYA1_ENST00000388741.2_Missense_Mutation_p.T11R|EYA1_ENST00000388740.3_Missense_Mutation_p.T11R|EYA1_ENST00000388742.4_Missense_Mutation_p.T44R|EYA1_ENST00000388743.2_Missense_Mutation_p.T44R|EYA1_ENST00000303824.7_Missense_Mutation_p.T44R|EYA1_ENST00000419131.1_Missense_Mutation_p.T44R	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	44					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CATTGGCTCTGTTTTAACTAC	0.328													17	38					0	0	0	0	C	72246403	G	C	72246403	3	2	43	1	0	0	0	0	1	0	0	0	5366	1377	48	4	1707	4	EYA1	8	72246403	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	16707076	72246403	74117619	231	8130											
ZFHX4	79776	broad.mit.edu	37	chr8	77763218	77763218	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagaaaccgactaaagaacCcttggaagtctcagaatgga	16	6	10	9	1	1	3	1	0	1	3	2	6	1	5	2	2	2	1	2	2	6	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:77763218C>G	ENST00000521891.2	+	10	4509	c.4061C>G	c.(4060-4062)cCc>cGc	p.P1354R	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1328R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1309R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1309R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1309						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTAAAGAACCCTTGGAAGTC	0.418										HNSCC(33;0.089)			22	13					0	0	0	0	G	77763218	C	G	77763218	3	3	43	1	0	0	0	0	1	0	0	0	17730	623	22	4	4095	4	ZFHX4	8	77763218	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	5516815	77763218	68600804	232	8131											
MMP16	4325	broad.mit.edu	37	chr8	89068480	89068480	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaccaggttgaagagttgTatccttgaacacccaatatt	13	12	8	8	0	0	3	0	2	0	1	1	3	1	3	3	1	2	4	3	1	6	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:89068480T>A	ENST00000286614.6	-	8	1530	c.1249A>T	c.(1249-1251)Aca>Tca	p.T417S		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	417	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGAAGAGTTGTATCCTTGAAC	0.358													28	31					0	0	0	0	A	89068480	T	A	89068480	3	1	43	1	0	0	0	0	1	0	0	0	9724	1638	57	5	586	5	MMP16	8	89068480	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	11305262	89068480	57295542	233	8132											
SLC26A7	115111	broad.mit.edu	37	chr8	92378866	92378867	+	Frame_Shift_Ins	INS	-	-	A																															ccgcttgttttcctgaatgcINSaaaaaaattttatactgatt																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:92378866_92378867insA	ENST00000276609.3	+	14	1786_1787	c.1547_1548insA	c.(1546-1548)gaafs	p.E516fs	SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.E516fs|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.E516fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	516	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTCCTGAATGCAAAAAAATTTT	0.347													21	30	---	---	---	---					A	92378867	-	A	92378866	7	5	43	1	0	1	1	0	0	0	0	0	14610	710	25	0	1597	0	SLC26A7	8	92378866	Frame_Shift_Ins	INS	-	TCGA-BB-7862-01A-21D-2229-08	3310386	92378866	53985156	234	8133											
TSPYL5	85453	broad.mit.edu	37	chr8	98289722	98289722	+	Frame_Shift_Del	DEL	G	G	-																															cccacgaagacagtgtctgcGgccaggcgctccgagagaga																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:98289722delG	ENST00000322128.3	-	1	454	c.351delC	c.(349-351)gcfs	p.A118fs		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	118					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CAGTGTCTGCGGCCAGGCGCT	0.731													8	14	---	---	---	---					-	98289722	G	-	98289722	7	5	43	1	0	1	0	1	0	0	0	0	16757	1103	39	0	906	0	TSPYL5	8	98289722	Frame_Shift_Del	DEL	G	TCGA-BB-7862-01A-21D-2229-08	5910856	98289722	48074300	235	8134											
PKHD1L1	93035	broad.mit.edu	37	chr8	110478835	110478835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacataccgtcattccacaCagctcattgctagacccttc	10	10	6	15	1	2	1	2	0	0	1	4	2	3	2	3	1	3	2	3	1	2	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:110478835C>T	ENST00000378402.5	+	50	8546	c.8442C>T	c.(8440-8442)caC>caT	p.H2814H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2814					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCATTCCACACAGCTCATTGC	0.408										HNSCC(38;0.096)			7	8					0	0	0	0	T	110478835	C	T	110478835	2	4	43	1	0	0	0	0	0	0	0	1	12044	477	17	4		4	PKHD1L1	8	110478835	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	12189113	110478835	35885187	236	8135											
CSMD3	114788	broad.mit.edu	37	chr8	113249444	113249445	+	Frame_Shift_Ins	INS	-	-	T																															gtagcagctccatgttgctaINSttgctcagtgttgcgttaac																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:113249444_113249445insT	ENST00000297405.5	-	67	10845_10846	c.10601_10602insA	c.(10600-10602)aagfs	p.K3534fs	CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.K3464fs|CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.K3494fs|CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.K3365fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3534						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATGTTGCTATTGCTCAGTGT	0.366										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	85	---	---	---	---					T	113249445	-	T	113249444	7	5	43	1	0	1	1	0	0	0	0	0	3978	446	16	0	541	0	CSMD3	8	113249444	Frame_Shift_Ins	INS	-	TCGA-BB-7862-01A-21D-2229-08	2770609	113249444	33114578	237	8136											
CSMD3	114788	broad.mit.edu	37	chr8	113529397	113529397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccaggttctcttccatccCcatttcgagtcccattcatg	6	13	5	17	1	2	0	1	0	1	0	7	1	5	0	6	1	0	1	6	1	0	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:113529397C>A	ENST00000297405.5	-	28	4866	c.4622G>T	c.(4621-4623)gGg>gTg	p.G1541V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1437V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1541V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1501V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1541	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTTCCATCCCCATTTCGAGT	0.448										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	24					2.74318e-10	3.27452e-10	1	0	A	113529397	C	A	113529397	3	1	43	1	0	0	0	0	1	0	0	0	3978	623	22	4	6677	4	CSMD3	8	113529397	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	279953	113529397	32834625	238	8137											
CSMD3	114788	broad.mit.edu	37	chr8	114186129	114186129	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacaccaggatttccacaAgagctactctgcaattctat	13	10	7	11	0	2	1	0	0	2	1	3	3	3	3	2	2	4	2	2	2	5	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:114186129A>G	ENST00000297405.5	-	4	775	c.531T>C	c.(529-531)tcT>tcC	p.S177S	CSMD3_ENST00000455883.2_Silent_p.S177S|CSMD3_ENST00000352409.3_Silent_p.S177S|CSMD3_ENST00000343508.3_Silent_p.S137S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	177	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATTTCCACAAGAGCTACTCT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	24					0	0	0	0	G	114186129	A	G	114186129	2	3	43	1	0	0	0	0	0	0	0	1	3978	59	3	5		5	CSMD3	8	114186129	Silent	SNP	A	TCGA-BB-7862-01A-21D-2229-08	656732	114186129	32177893	239	8138											
KANK1	23189	broad.mit.edu	37	chr9	730159	730159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacctcagaaggaaagcCaatcagcagcctggatgcct	12	5	13	11	0	2	1	2	0	0	1	2	4	2	4	4	4	4	1	4	4	3	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:730159C>T	ENST00000382303.1	+	8	3459	c.2807C>T	c.(2806-2808)cCa>cTa	p.P936L	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.P778L|KANK1_ENST00000382297.2_Missense_Mutation_p.P936L	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	936					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GAAGGAAAGCCAATCAGCAGC	0.547													27	4					0	0	0	0	T	730159	C	T	730159	3	4	43	1	0	0	0	0	1	0	0	0	8029	594	21	4	2817	4	KANK1	9	730159	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08		730159	140483272	240	8139											
GLDC	2731	broad.mit.edu	37	chr9	6602195	6602195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacgatacacttctttccCagtggcatctctacaccaag	12	10	6	13	1	2	1	0	0	2	1	4	2	3	1	2	1	2	1	2	1	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:6602195C>A	ENST00000321612.6	-	8	1219	c.1069G>T	c.(1069-1071)Ggg>Tgg	p.G357W		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	357					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACTTCTTTCCCAGTGGCATCT	0.453													9	3					1.12685e-05	1.22887e-05	1	0	A	6602195	C	A	6602195	3	1	43	1	0	0	0	0	1	0	0	0	6484	594	21	4	2065	4	GLDC	9	6602195	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	5872036	6602195	134611236	241	8140											
CDKN2A	1029	broad.mit.edu	37	chr9	21971017	21971017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcctcagccaggtccacgGgcagacggccccaggcatcg	7	4	13	17	3	1	1	1	0	0	1	4	1	3	1	5	4	1	3	5	4	0	0	rs121913386		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:21971017G>T	ENST00000304494.5	-	2	611	c.341C>A	c.(340-342)cCc>cAc	p.P114H	CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114H|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63H|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63H|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63H|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63H|CDKN2A_ENST00000361570.3_Silent_p.A169A|CDKN2A_ENST00000530628.2_Silent_p.A128A|CDKN2A_ENST00000579755.1_Silent_p.A128A|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114H|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114H|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63H	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			12	3					6.40141e-05	6.79909e-05	1	0	T	21971017	G	T	21971017	3	4	43	1	0	0	0	0	1	0	0	0	3190	1232	43	4	137	4	CDKN2A	9	21971017	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	15368822	21971017	119242414	242	8141											
TOPORS	10210	broad.mit.edu	37	chr9	32541632	32541632	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtggcaatatcacattccTtgtccagcacaccaaattca	12	11	6	12	0	2	0	2	0	0	0	4	0	4	0	3	1	1	2	3	1	3	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:32541632T>A	ENST00000360538.2	-	3	3007	c.2891A>T	c.(2890-2892)aAg>aTg	p.K964M	TOPORS_ENST00000379858.1_Missense_Mutation_p.K899M	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	964					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATCACATTCCTTGTCCAGCAC	0.388													65	32					0	0	0	0	A	32541632	T	A	32541632	3	1	43	1	0	0	0	0	1	0	0	0	16465	1609	56	5	250	5	TOPORS	9	32541632	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	10570615	32541632	108671799	243	8142											
TRPM6	140803	broad.mit.edu	37	chr9	77377127	77377127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttctggtgctgttcaCtccgagaggaatcactgtca	7	12	10	12	1	4	1	3	0	1	1	5	3	5	2	2	2	2	3	2	2	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:77377127C>A	ENST00000451710.3	-	26	4697	c.4460G>T	c.(4459-4461)aGt>aTt	p.S1487I	TRPM6_ENST00000449912.2_Missense_Mutation_p.S1482I|TRPM6_ENST00000376864.4_Missense_Mutation_p.S1487I|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.S1482I|TRPM6_ENST00000360774.1_Missense_Mutation_p.S1487I			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1487					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						GTGCTGTTCACTCCGAGAGGA	0.502													76	12					4.98926e-31	7.24468e-31	1	0	A	77377127	C	A	77377127	3	1	43	1	0	0	0	0	1	0	0	0	16685	565	20	4	1664	4	TRPM6	9	77377127	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	44835495	77377127	63836304	244	8143											
TLE1	7088	broad.mit.edu	37	chr9	84230971	84230971	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agctggactgctagaagcatCcttctttagcaggcgatttt	9	13	10	9	1	1	1	0	0	1	1	2	3	2	2	1	2	4	4	1	2	3	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:84230971C>G	ENST00000376499.3	-	11	1908	c.844G>C	c.(844-846)Gat>Cat	p.D282H	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	282	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CTAGAAGCATCCTTCTTTAGC	0.493													36	66					0	0	0	0	G	84230971	C	G	84230971	3	3	43	1	0	0	0	0	1	0	0	0	16032	855	30	2	1508	2	TLE1	9	84230971	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	6853844	84230971	56982460	245	8144											
CYLC2	1539	broad.mit.edu	37	chr9	105767551	105767551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtgaaaaaggaggtaCagagaaagatagcaaaaaag	22	4	13	2	0	0	4	0	2	0	2	0	6	0	5	0	3	2	2	0	3	9	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:105767551C>A	ENST00000374798.3	+	5	708	c.638C>A	c.(637-639)aCa>aAa	p.T213K	CYLC2_ENST00000487798.1_Missense_Mutation_p.T213K	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	213	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAAGGAGGTACAGAGAAAGAT	0.363													14	22					4.3838e-07	4.90172e-07	1	0	A	105767551	C	A	105767551	3	1	43	1	0	0	0	0	1	0	0	0	4174	478	17	4	656	4	CYLC2	9	105767551	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	21536580	105767551	35445880	246	8145											
PTPN3	5774	broad.mit.edu	37	chr9	112144045	112144045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttccatagtgaccaacaCaccggttcgacctattccag	10	11	7	13	2	0	1	0	1	0	0	3	2	2	1	5	1	1	2	5	1	3	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:112144045C>T	ENST00000412145.1	-	20	4711	c.2158G>A	c.(2158-2160)Gtg>Atg	p.V720M	PTPN3_ENST00000394827.3_Missense_Mutation_p.V319M|PTPN3_ENST00000262539.3_Missense_Mutation_p.V697M|PTPN3_ENST00000374541.2_Missense_Mutation_p.V851M|PTPN3_ENST00000446349.1_Missense_Mutation_p.V675M	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	851	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTGACCAACACACCGGTTCGA	0.537													32	46					0	0	0	0	T	112144045	C	T	112144045	3	4	43	1	0	0	0	0	1	0	0	0	12871	478	17	4	198	4	PTPN3	9	112144045	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	6376494	112144045	29069386	247	8146											
SVEP1	79987	broad.mit.edu	37	chr9	113168502	113168502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactgcattggcgacagaCggtggggacccacaggacaa	11	4	14	12	2	0	1	0	0	0	1	0	4	0	3	2	5	1	1	2	5	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:113168502C>T	ENST00000401783.2	-	38	9714	c.9378G>A	c.(9376-9378)ccG>ccA	p.P3126P	SVEP1_ENST00000297826.5_Silent_p.P1052P|SVEP1_ENST00000374469.1_Silent_p.P3103P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3126	Sushi 29.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGCGACAGACGGTGGGGACC	0.527													118	27					0	0	0	0	T	113168502	C	T	113168502	2	4	43	1	0	0	0	0	0	0	0	1	15510	523	19	1		1	SVEP1	9	113168502	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1024457	113168502	28044929	248	8147											
COL27A1	85301	broad.mit.edu	37	chr9	117054413	117054413	+	Frame_Shift_Del	DEL	C	C	-																															ggttacccggacagctgggtCcccctggcaagcgaggaaca																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:117054413delC	ENST00000356083.3	+	49	4898	c.4507delC	c.(4507-4509)ccfs	p.P1504fs		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1504	Collagen-like 15.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACAGCTGGGTCCCCCTGGCAA	0.587													2	4	---	---	---	---					-	117054413	C	-	117054413	7	5	43	1	0	1	0	1	0	0	0	0	3715	855	30	0	4701	0	COL27A1	9	117054413	Frame_Shift_Del	DEL	C	TCGA-BB-7862-01A-21D-2229-08	3885911	117054413	24159018	249	8148											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123215784	123215784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagcctgccacccaggcaCcccgtgcaggttctctggcc	5	6	12	18	1	1	0	0	0	1	0	2	0	1	0	6	4	3	4	6	4	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:123215784C>T	ENST00000349780.4	-	21	2922	c.2743G>A	c.(2743-2745)Gtg>Atg	p.V915M	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.V883M|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.V915M|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.V915M	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	915					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|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						CACCCAGGCACCCCGTGCAGG	0.483													48	73					0	0	0	0	T	123215784	C	T	123215784	3	4	43	1	0	0	0	0	1	0	0	0	3175	507	18	4	3010	4	CDK5RAP2	9	123215784	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	6161371	123215784	17997647	250	8149											
TUBAL3	79861	broad.mit.edu	37	chr10	5435740	5435740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcggccgattgttgatgcCcaccttgaaaccagttggac	8	9	13	11	2	0	2	0	2	0	0	0	4	0	3	4	3	2	2	4	3	1	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:5435740C>A	ENST00000380419.3	-	4	1118	c.1081G>T	c.(1081-1083)Ggc>Tgc	p.G361C	TUBAL3_ENST00000479328.1_Missense_Mutation_p.G321C	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	361					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TTGTTGATGCCCACCTTGAAA	0.582													24	17					1.85244e-09	2.16254e-09	1	0	A	5435740	C	A	5435740	3	1	43	1	0	0	0	0	1	0	0	0	16847	623	22	4	263	4	TUBAL3	10	5435740	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08		5435740	130099007	251	8150											
GATA3	2625	broad.mit.edu	37	chr10	8115940	8115940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcacccgccatccagcctgtCctttggaccacaccacccct	7	7	6	21	1	0	0	0	0	0	0	2	1	2	1	9	1	1	1	9	1	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:8115940C>T	ENST00000379328.3	+	6	1857	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	GATA3_ENST00000346208.3_Missense_Mutation_p.S429F|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	429					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCAGCCTGTCCTTTGGACCA	0.642			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						27	56					0	0	0	0	T	8115940	C	T	8115940	3	4	43	1	0	0	0	0	1	0	0	0	6304	855	30	2	1307	2	GATA3	10	8115940	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	2680200	8115940	127418807	252	8151											
CELF2	10659	broad.mit.edu	37	chr10	11356225	11356225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tattaatgcactagcaggtaCcatcaacagtgagtatttgc	13	12	8	8	0	1	1	1	1	0	0	1	1	1	1	1	1	5	4	1	1	6	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:11356225C>A	ENST00000417956.2	+	10	1047	c.1007C>A	c.(1006-1008)aCc>aAc	p.T336N	CELF2_ENST00000450189.1_Intron|CELF2_ENST00000416382.2_Intron|CELF2_ENST00000379261.4_Intron|CELF2_ENST00000315874.3_Intron|CELF2_ENST00000354897.3_Missense_Mutation_p.T336N|CELF2_ENST00000354440.2_Intron|CELF2_ENST00000542579.1_Intron|CELF2_ENST00000427450.1_Intron|CELF2_ENST00000399850.3_Intron|CELF2_ENST00000537122.1_Intron			O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	359	Ala-rich.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CTAGCAGGTACCATCAACAGT	0.507													23	44					1.22574e-08	1.39708e-08	1	0	A	11356225	C	A	11356225	3	1	43	1	0	0	0	0	1	0	0	0	3245	507	18	4	1195	4	CELF2	10	11356225	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	3240285	11356225	124178522	253	8152											
MRC1	4360	broad.mit.edu	37	chr10	17949652	17949652	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagctttacatgcgtcttCtgggttttggagtaatattc	7	18	10	6	1	2	0	0	0	2	0	3	1	2	1	0	2	3	4	0	2	4	9			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:17949652C>A	ENST00000331429.2	+	28	4119	c.4016C>A	c.(4015-4017)tCt>tAt	p.S1339Y																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATGCGTCTTCTGGGTTTTGG	0.413													46	81					1.07234e-20	1.47621e-20	1	0	A	17949652	C	A	17949652	3	1	43	1	0	0	0	0	1	0	0	0	9826	913	32	2	4126	2	MRC1	10	17949652	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	6593427	17949652	117585095	254	8153											
APBB1IP	54518	broad.mit.edu	37	chr10	26849703	26849703	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccagcgggctgtggcaaaGgctggacttgcctctcggtg	6	9	15	11	2	1	0	0	0	1	0	2	1	1	1	2	5	3	3	2	5	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:26849703G>A	ENST00000376236.4	+	13	1754	c.1299G>A	c.(1297-1299)aaG>aaA	p.K433K		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	433					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CTGTGGCAAAGGCTGGACTTG	0.493													14	25					0	0	0	0	A	26849703	G	A	26849703	2	1	43	1	0	0	0	0	0	0	0	1	761	991	35	4		4	APBB1IP	10	26849703	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	8900051	26849703	108685044	255	8154											
ERCC6	2074	broad.mit.edu	37	chr10	50690805	50690805	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctccataaacacaggcaaCgtgcctaactttcccgggaa	12	8	8	13	2	0	0	0	0	0	0	2	1	2	1	3	2	5	2	3	2	5	3	rs75166536		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:50690805C>A	ENST00000355832.5	-	10	2175	c.2097G>T	c.(2095-2097)acG>acT	p.T699T	ERCC6_ENST00000542458.1_Silent_p.T69T	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	699					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACACAGGCAACGTGCCTAACT	0.483								Direct reversal of damage;Nucleotide excision repair (NER)					37	48					5.43694e-19	7.38866e-19	1	0	A	50690805	C	A	50690805	2	1	43	1	0	0	0	0	0	0	0	1	5255	523	19	3		3	ERCC6	10	50690805	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	23841102	50690805	84843942	256	8155											
BICC1	80114	broad.mit.edu	37	chr10	60558967	60558967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatatcaacagtatgcaGaccgaaggcaaaaaaatctc	17	7	7	10	1	2	1	1	0	1	1	4	2	3	1	2	1	2	3	2	1	7	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:60558967G>T	ENST00000373886.3	+	12	1684	c.1680G>T	c.(1678-1680)caG>caT	p.Q560H	BICC1_ENST00000263103.1_Missense_Mutation_p.Q186H	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	560					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACAGTATGCAGACCGAAGGCA	0.453													9	7					0.000274275	0.000287853	1	0	T	60558967	G	T	60558967	3	4	43	1	0	0	0	0	1	0	0	0	1432	933	33	2	1726	2	BICC1	10	60558967	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	9868162	60558967	74975780	257	8156											
PHYHIPL	84457	broad.mit.edu	37	chr10	60998404	60998404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgaagtgattgcaggaCgcatgcttaagttttctgtt	9	14	12	6	1	1	2	0	2	1	0	1	3	1	3	0	2	2	6	0	2	2	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:60998404C>A	ENST00000373880.4	+	4	799	c.535C>A	c.(535-537)Cgc>Agc	p.R179S	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.R153S|PHYHIPL_ENST00000472199.1_3'UTR	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	179										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						GATTGCAGGACGCATGCTTAA	0.303													24	62					2.21704e-12	2.77129e-12	1	0	A	60998404	C	A	60998404	3	1	43	1	0	0	0	0	1	0	0	0	11939	536	19	3	581	3	PHYHIPL	10	60998404	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	439437	60998404	74536343	258	8157											
CCDC6	8030	broad.mit.edu	37	chr10	61566690	61566690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcacacacctttcgtcgtCcatttctaagctggactcac	9	12	6	14	2	2	0	1	0	1	0	5	1	3	1	2	1	2	2	2	1	1	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:61566690C>A	ENST00000263102.6	-	6	1225	c.994G>T	c.(994-996)Gac>Tac	p.D332Y		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	332						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CTTTCGTCGTCCATTTCTAAG	0.453			T	RET	NSCLC								27	30					5.77227e-19	7.80435e-19	1	0	A	61566690	C	A	61566690	3	1	43	1	0	0	0	0	1	0	0	0	2857	855	30	2	446	2	CCDC6	10	61566690	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	568286	61566690	73968057	259	8158											
ADK	132	broad.mit.edu	37	chr10	76158270	76158270	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgccaattgttataaaaAggaaaaacatcttgatctgg	15	12	8	6	0	2	1	0	1	2	0	2	2	2	2	1	2	3	2	1	2	7	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:76158270A>C	ENST00000372734.3	+	6	624	c.437A>C	c.(436-438)aAg>aCg	p.K146T	ADK_ENST00000541550.1_Missense_Mutation_p.K128T|ADK_ENST00000539909.1_Missense_Mutation_p.K163T|ADK_ENST00000286621.2_Missense_Mutation_p.K163T	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	163					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	TGTTATAAAAAGGAAAAACAT	0.318													8	20					0	0	0	0	C	76158270	A	C	76158270	3	2	43	1	0	0	0	0	1	0	0	0	320	72	3	5	528	5	ADK	10	76158270	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	14591580	76158270	59376477	260	8159											
KCNMA1	3778	broad.mit.edu	37	chr10	78669856	78669856	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaacattagtatcgttcacTagaaaaagcataaaataaga	20	10	6	5	1	1	3	1	1	0	2	2	3	1	3	0	0	2	3	0	0	9	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:78669856T>C	ENST00000286627.5	-	24	3795		c.e24-2		RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000406533.3_Splice_Site|KCNMA1_ENST00000354353.5_Splice_Site|KCNMA1_ENST00000372443.1_Splice_Site|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_Splice_Site|KCNMA1_ENST00000286628.8_Splice_Site|KCNMA1_ENST00000404771.3_Splice_Site|KCNMA1_ENST00000372440.1_Splice_Site|RP11-443A13.5_ENST00000600782.1_RNA	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TATCGTTCACTAGAAAAAGCA	0.438													7	23					0	0	0	0	C	78669856	T	C	78669856	5	2	43	1	0	0	0	0	0	0	1	0	8126	1536	53	5	740	5	KCNMA1	10	78669856	Splice_Site	SNP	T	TCGA-BB-7862-01A-21D-2229-08	2511586	78669856	56864891	261	8160											
SH2D4B	387694	broad.mit.edu	37	chr10	82298212	82298212	+	Frame_Shift_Del	DEL	G	G	-																															gctgaggcgctggaaggagcGggagacttgggaggccctgg																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:82298212delG	ENST00000339284.2	+	1	555	c.125delG	c.(124-126)cgfs	p.R42fs	SH2D4B_ENST00000470604.2_Frame_Shift_Del_p.R42fs	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	42										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			TGGAAGGAGCGGGAGACTTGG	0.617													3	3	---	---	---	---					-	82298212	G	-	82298212	7	5	43	1	0	1	0	1	0	0	0	0	14323	1116	39	0	127	0	SH2D4B	10	82298212	Frame_Shift_Del	DEL	G	TCGA-BB-7862-01A-21D-2229-08	3628356	82298212	53236535	262	8161											
RGR	5995	broad.mit.edu	37	chr10	86012697	86012697	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcagctctgccccttcTgggttggggtcactacgact	4	11	13	13	1	3	0	1	0	2	0	3	1	3	0	2	4	3	3	2	4	1	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:86012697T>A	ENST00000359452.4	+	4	493	c.455T>A	c.(454-456)cTg>cAg	p.L152Q	RGR_ENST00000358110.5_Missense_Mutation_p.L148Q	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	148			H -> N.		phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTGCCCCTTCTGGGTTGGGGT	0.617													21	41					0	0	0	0	A	86012697	T	A	86012697	3	1	43	1	0	0	0	0	1	0	0	0	13374	1580	55	5	469	5	RGR	10	86012697	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	3714485	86012697	49522050	263	8162											
LIPJ	142910	broad.mit.edu	37	chr10	90366488	90366488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaactgcaatttggaatGgtaaaagtgacttgttggct	11	13	12	5	0	0	1	0	1	0	0	0	2	0	2	0	4	2	5	0	4	5	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:90366488G>T	ENST00000371939.3	+	11	1239	c.925G>T	c.(925-927)Ggt>Tgt	p.G309C		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	309					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		AATTTGGAATGGTAAAAGTGA	0.313													12	24					2.80697e-09	3.24825e-09	1	0	T	90366488	G	T	90366488	3	4	43	1	0	0	0	0	1	0	0	0	8881	1348	47	4	959	4	LIPJ	10	90366488	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	4353791	90366488	45168259	264	8163											
CYP2C9	1559	broad.mit.edu	37	chr10	96708890	96708890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caataatttttctcctatcaTtgattacttcccgggaactc	10	16	4	11	1	2	1	1	1	1	0	5	2	3	2	2	1	2	0	2	1	5	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:96708890T>C	ENST00000260682.6	+	5	680	c.668T>C	c.(667-669)aTt>aCt	p.I223T		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	223					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCTCCTATCATTGATTACTTC	0.279													10	25					0	0	0	0	C	96708890	T	C	96708890	3	2	43	1	0	0	0	0	1	0	0	0	4200	1493	52	5	686	5	CYP2C9	10	96708890	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	6342402	96708890	38825857	265	8164											
BLNK	29760	broad.mit.edu	37	chr10	97987324	97987324	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattttcatagtcgctgtccTgcaagtgcagatgcagacac	10	11	10	10	1	1	2	1	0	0	2	3	3	2	2	1	0	3	4	1	0	2	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:97987324T>G	ENST00000224337.5	-	5	346		c.e5-2		BLNK_ENST00000413476.2_Splice_Site|BLNK_ENST00000427367.2_Splice_Site|BLNK_ENST00000371176.2_Splice_Site	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker						B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GTCGCTGTCCTGCAAGTGCAG	0.582													41	72					0	0	0	0	G	97987324	T	G	97987324	5	3	43	1	0	0	0	0	0	0	1	0	1452	1594	55	5	1219	5	BLNK	10	97987324	Splice_Site	SNP	T	TCGA-BB-7862-01A-21D-2229-08	1278434	97987324	37547423	266	8165											
CRTAC1	55118	broad.mit.edu	37	chr10	99664467	99664467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcatttgcagatagaGgcggtgggggccattccagt	7	10	16	8	1	1	2	1	0	0	2	2	2	2	2	2	5	2	2	2	5	1	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:99664467G>A	ENST00000370597.3	-	7	1310	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	CRTAC1_ENST00000370591.2_Missense_Mutation_p.L319F|CRTAC1_ENST00000298819.4_Missense_Mutation_p.L319F	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	319						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TGCAGATAGAGGCGGTGGGGG	0.597													39	58					0	0	0	0	A	99664467	G	A	99664467	3	1	43	1	0	0	0	0	1	0	0	0	3926	1000	35	4	1066	4	CRTAC1	10	99664467	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1677143	99664467	35870280	267	8166											
SORCS1	114815	broad.mit.edu	37	chr10	108339127	108339127	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatagagggacacgcacCttttaaacttgtagatgacg	12	10	12	7	2	0	3	0	1	0	2	0	5	0	5	1	2	1	2	1	2	4	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:108339127C>G	ENST00000263054.6	-	25	3378	c.3371_splice	c.e25+1	p.R1124_splice	SORCS1_ENST00000369698.1_Splice_Site_p.R659_splice|SORCS1_ENST00000344440.6_Splice_Site_p.R1124_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1124						integral to membrane	neuropeptide receptor activity|protein binding	p.R1124M(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGACACGCACCTTTTAAACTT	0.532													16	32					0	0	0	0	G	108339127	C	G	108339127	5	3	43	1	0	0	0	0	0	0	1	0	15018	695	24	4	377	4	SORCS1	10	108339127	Splice_Site	SNP	C	TCGA-BB-7862-01A-21D-2229-08	8674660	108339127	27195620	268	8167											
KCNK18	338567	broad.mit.edu	37	chr10	118969760	118969760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgattgacatatacaaaaatGttatgctattctttgcaaaa	16	15	5	5	0	1	2	0	2	1	0	1	2	1	2	0	0	3	3	0	0	8	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:118969760G>A	ENST00000334549.1	+	3	1105	c.1105G>A	c.(1105-1107)Gtt>Att	p.V369I		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	369						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		ATACAAAAATGTTATGCTATT	0.378													35	46					0	0	0	0	A	118969760	G	A	118969760	3	1	43	1	0	0	0	0	1	0	0	0	8118	1377	48	4	1115	4	KCNK18	10	118969760	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	10630633	118969760	16564987	269	8168											
NPS	594857	broad.mit.edu	37	chr10	129347783	129347783	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatctcatcctagttctGtcgctgtccacaatgcatgt	8	14	6	13	1	3	0	2	0	2	0	7	0	5	0	2	0	1	3	2	0	3	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:129347783G>T	ENST00000398023.1	+	2	59	c.39G>T	c.(37-39)ctG>ctT	p.L13L		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	13					neuropeptide signaling pathway	extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TCCTAGTTCTGTCGCTGTCCA	0.368													13	20					7.93312e-07	8.79614e-07	1	0	T	129347783	G	T	129347783	2	4	43	1	0	0	0	0	0	0	0	1	10670	1364	48	4		4	NPS	10	129347783	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	10378023	129347783	6186964	270	8169											
OR52E2	119678	broad.mit.edu	37	chr11	5080618	5080618	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagattccaagcatcttaggGatggtagctgttgagagacc	12	10	12	7	0	1	3	0	1	1	2	2	5	2	4	2	2	2	4	2	2	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:5080618G>T	ENST00000321522.2	-	1	239	c.240C>A	c.(238-240)atC>atA	p.I80I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCATCTTAGGGATGGTAGCTG	0.478													5	21					1.23904e-05	1.34844e-05	1	0	T	5080618	G	T	5080618	2	4	43	1	0	0	0	0	0	0	0	1	11186	1164	41	2		2	OR52E2	11	5080618	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08		5080618	129925898	271	8170											
OR51M1	390059	broad.mit.edu	37	chr11	5410672	5410672	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcctcaattcatgctgctatCcaacattactcagtttagcc	10	14	4	13	0	3	0	3	0	0	0	5	0	5	0	3	0	5	3	3	0	5	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:5410672C>G	ENST00000328611.3	+	1	66	c.44C>G	c.(43-45)tCc>tGc	p.S15C	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	15						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTGCTATCCAACATTACT	0.393													49	74					0	0	0	0	G	5410672	C	G	5410672	3	3	43	1	0	0	0	0	1	0	0	0	11174	855	30	2	46	2	OR51M1	11	5410672	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	330054	5410672	129595844	272	8171											
OR10A6	390093	broad.mit.edu	37	chr11	7949863	7949863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcggtcataagccattgctCccagaagaaaacattcagcc	14	8	7	12	1	2	2	2	0	0	2	4	2	3	2	3	1	4	1	3	1	4	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:7949863C>T	ENST00000309838.2	-	1	346	c.347G>A	c.(346-348)gGa>gAa	p.G116E		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCATTGCTCCCAGAAGAAA	0.368													43	60					0	0	0	0	T	7949863	C	T	7949863	3	4	43	1	0	0	0	0	1	0	0	0	10965	855	30	2	600	2	OR10A6	11	7949863	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	2539191	7949863	127056653	273	8172											
CALCB	797	broad.mit.edu	37	chr11	15098958	15098958	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaatgtgggttccaaagcCtttggcaggcgccgcaggga	9	7	14	11	2	0	0	0	0	0	0	1	1	1	1	4	4	1	3	4	4	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:15098958C>A	ENST00000523376.1	+	9	1646	c.384C>A	c.(382-384)gcC>gcA	p.A128A	CALCB_ENST00000324229.6_Silent_p.A117A|CALCB_ENST00000533448.1_Silent_p.A117A			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	117					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GTTCCAAAGCCTTTGGCAGGC	0.557													10	20					0.0931896	0.0944368	1	0	A	15098958	C	A	15098958	2	1	43	1	0	0	0	0	0	0	0	1	2601	668	24	4		4	CALCB	11	15098958	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	7149095	15098958	119907558	274	8173											
CALCB	797	broad.mit.edu	37	chr11	15098970	15098970	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaaagcctttggcaggcgCcgcagggaccttcaagcctg	8	7	12	14	2	1	0	1	0	0	0	2	1	2	1	5	3	2	2	5	3	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:15098970C>G	ENST00000523376.1	+	9	1658	c.396C>G	c.(394-396)cgC>cgG	p.R132R	CALCB_ENST00000324229.6_Silent_p.R121R|CALCB_ENST00000533448.1_Silent_p.R121R			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	121					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TTGGCAGGCGCCGCAGGGACC	0.547													9	15					0	0	0	0	G	15098970	C	G	15098970	2	3	43	1	0	0	0	0	0	0	0	1	2601	726	26	4		4	CALCB	11	15098970	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	12	15098970	119907546	275	8174											
RAG1	5896	broad.mit.edu	37	chr11	36595864	36595864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccgatatccatgcttccCtactgacctggagagtccag	8	11	9	13	1	0	2	0	1	0	1	3	4	3	2	5	1	3	1	5	1	2	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:36595864C>T	ENST00000299440.5	+	2	1122	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	337					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CCATGCTTCCCTACTGACCTG	0.493									Familial Hemophagocytic Lymphohistiocytosis				18	53					0	0	0	0	T	36595864	C	T	36595864	3	4	43	1	0	0	0	0	1	0	0	0	13085	681	24	4	1012	4	RAG1	11	36595864	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	21496894	36595864	98410652	276	8175											
RAG1	5896	broad.mit.edu	37	chr11	36597586	36597586	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagaatccctctgccAgtacagtttcaattcacagc	10	10	7	14	0	3	1	2	0	1	1	4	1	4	1	3	0	4	2	3	0	3	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:36597586A>T	ENST00000299440.5	+	2	2844	c.2732A>T	c.(2731-2733)cAg>cTg	p.Q911L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	911					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCCCTCTGCCAGTACAGTTTC	0.463									Familial Hemophagocytic Lymphohistiocytosis				24	39					0	0	0	0	T	36597586	A	T	36597586	3	4	43	1	0	0	0	0	1	0	0	0	13085	188	7	5	2734	5	RAG1	11	36597586	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	1722	36597586	98408930	277	8176											
LRRC4C	57689	broad.mit.edu	37	chr11	40136477	40136477	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catagtctctactgtgacggTtgaaaagtaagagaaaggag	15	9	12	5	1	1	3	0	2	1	1	2	5	1	4	0	2	1	2	0	2	6	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:40136477T>A	ENST00000278198.2	-	2	3329	c.1366A>T	c.(1366-1368)Acc>Tcc	p.T456S	LRRC4C_ENST00000530763.1_Missense_Mutation_p.T456S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.T456S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T456S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	456					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACTGTGACGGTTGAAAAGTAA	0.488													34	59					0	0	0	0	A	40136477	T	A	40136477	3	1	43	1	0	0	0	0	1	0	0	0	9072	1725	60	5	560	5	LRRC4C	11	40136477	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	3538891	40136477	94870039	278	8177											
OR4C13	283092	broad.mit.edu	37	chr11	49974158	49974158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccccatgtactttttcctgGcctatctctcctttattgat	5	18	4	14	0	1	1	0	1	1	0	4	1	3	1	5	1	1	1	5	1	3	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:49974158G>T	ENST00000555099.1	+	1	216	c.184G>T	c.(184-186)Gcc>Tcc	p.A62S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTTTTTCCTGGCCTATCTCTC	0.433													75	121					8.70839e-23	1.21459e-22	1	0	T	49974158	G	T	49974158	3	4	43	1	0	0	0	0	1	0	0	0	11118	1203	42	4	186	4	OR4C13	11	49974158	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	9837681	49974158	85032358	279	8178											
OR4C16	219428	broad.mit.edu	37	chr11	55340089	55340089	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagatttttcttgccctGagtttgccattctgtggccc	4	17	9	11	0	3	2	1	1	2	1	3	2	3	2	3	1	2	2	3	1	0	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:55340089G>T	ENST00000314634.3	+	1	486	c.486G>T	c.(484-486)ctG>ctT	p.L162L		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTCTTGCCCTGAGTTTGCCAT	0.468													39	63					1.60099e-16	2.1003e-16	1	0	T	55340089	G	T	55340089	2	4	43	1	0	0	0	0	0	0	0	1	11120	1277	45	2		2	OR4C16	11	55340089	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	5365931	55340089	79666427	280	8179											
OR5D14	219436	broad.mit.edu	37	chr11	55563356	55563356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtacttcctgtcctgcactGctgtggtgacagagtctttc	6	14	10	11	0	1	2	0	1	1	1	4	2	3	2	2	1	3	3	2	1	1	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:55563356G>A	ENST00000335605.1	+	1	325	c.325G>A	c.(325-327)Gct>Act	p.A109T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTCCTGCACTGCTGTGGTGAC	0.488													17	30					0	0	0	0	A	55563356	G	A	55563356	3	1	43	1	0	0	0	0	1	0	0	0	11226	1319	46	4	327	4	OR5D14	11	55563356	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	223267	55563356	79443160	281	8180											
OR8J3	81168	broad.mit.edu	37	chr11	55904598	55904598	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgctgcagatataaaGactattgtttctggtatgta	10	18	9	4	0	1	2	0	0	1	2	1	2	1	2	0	1	2	6	0	1	6	9			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:55904598G>T	ENST00000301529.1	-	1	596	c.597C>A	c.(595-597)gtC>gtA	p.V199V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CAGATATAAAGACTATTGTTT	0.313													15	32					1.52009e-12	1.90461e-12	1	0	T	55904598	G	T	55904598	2	4	43	1	0	0	0	0	0	0	0	1	11313	929	33	2		2	OR8J3	11	55904598	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	341242	55904598	79101918	282	8181											
OR8J1	219477	broad.mit.edu	37	chr11	56128008	56128008	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaactacctcattctatGaatgtgccacccaactggga	14	9	7	11	0	2	2	1	1	1	1	2	3	2	3	3	1	4	0	3	1	6	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:56128008G>T	ENST00000303039.3	+	1	318	c.286G>T	c.(286-288)Gaa>Taa	p.E96*		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E96*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CTCATTCTATGAATGTGCCAC	0.418													40	86					4.92203e-23	6.88304e-23	1	0	T	56128008	G	T	56128008	4	4	43	1	0	0	0	0	0	1	0	0	11312	1291	45	2	288	2	OR8J1	11	56128008	Nonsense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	223410	56128008	78878508	283	8182											
OR5A2	219981	broad.mit.edu	37	chr11	59190059	59190059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgcagattgcagcatacCggtcataggccatagctgcc	9	9	12	11	1	1	1	1	0	0	1	1	1	1	1	3	3	6	5	3	3	3	5	rs151222077	by1000genomes	TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:59190059C>A	ENST00000302040.4	-	1	390	c.368G>T	c.(367-369)cGg>cTg	p.R123L		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TGCAGCATACCGGTCATAGGC	0.483													16	26					4.7546e-09	5.46625e-09	1	0	A	59190059	C	A	59190059	3	1	43	1	0	0	0	0	1	0	0	0	11211	652	23	3	608	3	OR5A2	11	59190059	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	3062051	59190059	75816457	284	8183											
MS4A10	341116	broad.mit.edu	37	chr11	60557908	60557908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcagacaagtgcacccCagaacacgacccagcccaag	13	2	9	17	1	0	2	0	0	0	2	0	3	0	2	5	1	3	2	5	1	3	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:60557908C>A	ENST00000308287.1	+	2	196	c.100C>A	c.(100-102)Cag>Aag	p.Q34K		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	34						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						AAGTGCACCCCAGAACACGAC	0.587													32	56					3.1745e-13	4.00591e-13	1	0	A	60557908	C	A	60557908	3	1	43	1	0	0	0	0	1	0	0	0	9925	595	21	4	102	4	MS4A10	11	60557908	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1367849	60557908	74448608	285	8184											
PGA3	643834	broad.mit.edu	37	chr11	60971081	60971081	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggcactctctgagtgCatcatgtacaagtgagtccg	8	11	12	10	1	2	2	1	2	1	0	4	2	3	2	1	2	2	3	1	2	2	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:60971081C>T	ENST00000325558.6	+	1	230	c.45C>T	c.(43-45)tgC>tgT	p.C15C		NM_001079807.1	NP_001073275.1			pepsinogen 3, group I (pepsinogen A)											endometrium(1)|lung(1)|ovary(1)|skin(2)	5						TCTCTGAGTGCATCATGTACA	0.567													42	26					0	0	0	0	T	60971081	C	T	60971081	2	4	43	1	0	0	0	0	0	0	0	1	11843	718	25	4		4	PGA3	11	60971081	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	413173	60971081	74035435	286	8185											
VWCE	220001	broad.mit.edu	37	chr11	61032011	61032011	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggcagggtcggcacaggcCcgctggcagggaaccttctc	7	5	16	13	2	1	0	0	0	1	0	3	1	1	1	2	6	1	4	2	6	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:61032011C>A	ENST00000335613.5	-	19	2564	c.2178G>T	c.(2176-2178)cgG>cgT	p.R726R	VWCE_ENST00000535710.1_Silent_p.R191R	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	726	VWFC 6.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CGGCACAGGCCCGCTGGCAGG	0.617													5	10					0.014758	0.0151584	1	0	A	61032011	C	A	61032011	2	1	43	1	0	0	0	0	0	0	0	1	17341	610	22	4		4	VWCE	11	61032011	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	60930	61032011	73974505	287	8186											
NDUFS8	4728	broad.mit.edu	37	chr11	67803773	67803773	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccgccggaccacccgCtatgacatcgacatgaccaa	11	4	10	16	4	0	2	0	2	0	0	1	4	0	3	5	2	1	2	5	2	2	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:67803773C>T	ENST00000313468.5	+	6	533	c.426C>T	c.(424-426)cgC>cgT	p.R142R	NDUFS8_ENST00000528492.1_5'UTR	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	142	4Fe-4S ferredoxin-type 2.				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	GGACCACCCGCTATGACATCG	0.662													18	19					0	0	0	0	T	67803773	C	T	67803773	2	4	43	1	0	0	0	0	0	0	0	1	10368	784	28	4		4	NDUFS8	11	67803773	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	6771762	67803773	67202743	288	8187											
MYEOV	26579	broad.mit.edu	37	chr11	69063226	69063226	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtttgctgctggagcTggtgaccgggagagaaacaa	9	9	16	7	1	0	2	0	1	0	1	0	5	0	4	1	4	4	4	1	4	2	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:69063226T>A	ENST00000535407.1	+	2	778	c.135T>A	c.(133-135)gcT>gcA	p.A45A	MYEOV_ENST00000308946.3_Silent_p.A103A|MYEOV_ENST00000441339.2_Silent_p.A103A			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	103										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		CTGCTGGAGCTGGTGACCGGG	0.647													49	58					0	0	0	0	A	69063226	T	A	69063226	2	1	43	1	0	0	0	0	0	0	0	1	10095	1567	55	5		5	MYEOV	11	69063226	Silent	SNP	T	TCGA-BB-7862-01A-21D-2229-08	1259453	69063226	65943290	289	8188											
FOLR2	2350	broad.mit.edu	37	chr11	71932330	71932330	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacacgtgcaagagcaactgGcacagaggatgggactggac	13	4	14	10	1	0	2	0	0	0	2	0	5	0	5	0	4	3	3	0	4	2	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:71932330G>A	ENST00000449475.2	+	4	799	c.501G>A	c.(499-501)tgG>tgA	p.W167*	FOLR2_ENST00000298223.6_Nonsense_Mutation_p.W150*|FOLR2_ENST00000454954.2_Nonsense_Mutation_p.W109*			P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	150					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	AGAGCAACTGGCACAGAGGAT	0.532													12	26					0	0	0	0	A	71932330	G	A	71932330	4	1	43	1	0	0	0	0	0	1	0	0	6027	1212	42	4	460	4	FOLR2	11	71932330	Nonsense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2869104	71932330	63074186	290	8189											
KLHL35	283212	broad.mit.edu	37	chr11	75139659	75139659	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaccacgatcacttcagcTaggtccatgaatctggcgtg	10	10	10	11	2	3	2	2	2	1	0	4	3	4	2	2	2	1	1	2	2	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:75139659T>G	ENST00000539798.1	-	2	893	c.894A>C	c.(892-894)ctA>ctC	p.L298L	KLHL35_ENST00000376292.4_Silent_p.L78L	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	78										lung(2)|stomach(1)	3						TCACTTCAGCTAGGTCCATGA	0.627													7	31					0	0	0	0	G	75139659	T	G	75139659	2	3	43	1	0	0	0	0	0	0	0	1	8440	1509	53	5		5	KLHL35	11	75139659	Silent	SNP	T	TCGA-BB-7862-01A-21D-2229-08	3207329	75139659	59866857	291	8190											
MOGAT2	80168	broad.mit.edu	37	chr11	75438505	75438505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caagactgctgagctggaccCctctcggaactacattgcgg	9	8	11	13	2	1	2	0	1	1	1	2	4	1	4	2	3	5	2	2	3	3	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:75438505C>T	ENST00000526712.1	+	2	823	c.50C>T	c.(49-51)cCc>cTc	p.P17L	MOGAT2_ENST00000198801.5_Missense_Mutation_p.P99L			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	99					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GAGCTGGACCCCTCTCGGAAC	0.617													16	36					0	0	0	0	T	75438505	C	T	75438505	3	4	43	1	0	0	0	0	1	0	0	0	9765	623	22	4	306	4	MOGAT2	11	75438505	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	298846	75438505	59568011	292	8191											
CCDC89	220388	broad.mit.edu	37	chr11	85396955	85396955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgcagatgagctgggaCtgctcttcaatgcgggagcg	9	8	16	8	2	2	2	1	1	1	1	2	5	2	5	0	3	5	3	0	3	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:85396955C>A	ENST00000316398.3	-	1	365	c.219G>T	c.(217-219)caG>caT	p.Q73H		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	73						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGAGCTGGGACTGCTCTTCAA	0.587													20	19					5.35267e-07	5.9599e-07	1	0	A	85396955	C	A	85396955	3	1	43	1	0	0	0	0	1	0	0	0	2893	564	20	4	909	4	CCDC89	11	85396955	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	9958450	85396955	49609561	293	8192											
FOLH1B	219595	broad.mit.edu	37	chr11	89405204	89405204	+	RNA	DEL	C	C	-																															acaaacagcaaaaaaaccaaCctatctgagtctcagtttag																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:89405204delC	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAAAAACCaacctatctgagt	0.353													14	21	---	---	---	---					-	89405204	C	-	89405204	6	5	43	0	1	1	0	1	0	0	0	0	6025	522	18	0		0	FOLH1B	11	89405204	RNA	DEL	C	TCGA-BB-7862-01A-21D-2229-08	4008249	89405204	45601312	294	8193											
FAT3	120114	broad.mit.edu	37	chr11	92570929	92570929	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttctgatgtgaatgacaAcagcccggtgtttacacctg	10	13	9	9	1	1	3	0	3	1	0	1	3	1	3	2	1	3	1	2	1	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:92570929A>G	ENST00000298047.6	+	16	10342	c.10325A>G	c.(10324-10326)aAc>aGc	p.N3442S	FAT3_ENST00000525166.1_Missense_Mutation_p.N3292S|FAT3_ENST00000409404.2_Missense_Mutation_p.N3442S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3442	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGAATGACAACAGCCCGGTG	0.468										TCGA Ovarian(4;0.039)			14	17					0	0	0	0	G	92570929	A	G	92570929	3	3	43	1	0	0	0	0	1	0	0	0	5736	43	2	5	10387	5	FAT3	11	92570929	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	3165725	92570929	42435587	295	8194											
CASP5	838	broad.mit.edu	37	chr11	104869611	104869611	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgttactaaaagacacataCgtggtgttgaagaacagaaa	17	9	9	6	1	0	4	0	1	0	3	0	4	0	4	0	1	3	2	0	1	7	4	rs141481245	byFrequency	TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:104869611C>T	ENST00000393141.2	-	7	1167		c.e7+1		CASP5_ENST00000444749.2_Splice_Site|CASP5_ENST00000260315.3_Splice_Site|CASP5_ENST00000531367.1_Splice_Site|CASP5_ENST00000418434.1_Splice_Site|CASP5_ENST00000393139.2_Splice_Site|CASP5_ENST00000526056.1_Splice_Site	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase						apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AAGACACATACGTGGTGTTGA	0.438													38	66					0	0	0	0	T	104869611	C	T	104869611	5	4	43	1	0	0	0	0	0	0	1	0	2699	550	19	1	219	1	CASP5	11	104869611	Splice_Site	SNP	C	TCGA-BB-7862-01A-21D-2229-08	12298682	104869611	30136905	296	8195											
NCAM1	4684	broad.mit.edu	37	chr11	113103871	113103871	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgtcttccccacagacAccccctcttcaccatccatc	8	11	3	19	0	3	1	1	0	2	1	6	1	5	1	6	0	0	0	6	0	1	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:113103871A>G	ENST00000316851.7	+	12	1495	c.1495A>G	c.(1495-1497)Acc>Gcc	p.T499A	NCAM1_ENST00000533760.1_Missense_Mutation_p.T381A|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.T508A	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	509	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCCCACAGACACCCCCTCTTC	0.547													15	11					0	0	0	0	G	113103871	A	G	113103871	3	3	43	1	0	0	0	0	1	0	0	0	10272	159	6	5	1576	5	NCAM1	11	113103871	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	8234260	113103871	21902645	297	8196											
DSCAML1	57453	broad.mit.edu	37	chr11	117403130	117403130	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccattgctctgccgggtctCcccgctatacttgtgcttgg	3	13	10	15	2	2	0	0	0	2	0	3	0	2	0	4	2	4	3	4	2	2	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:117403130C>A	ENST00000321322.6	-	4	800	c.799G>T	c.(799-801)Gag>Tag	p.E267*	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	207	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCCGGGTCTCCCCGCTATAC	0.607													26	32					9.86323e-18	1.31015e-17	1	0	A	117403130	C	A	117403130	4	1	43	1	0	0	0	0	0	1	0	0	4805	864	30	2	5662	2	DSCAML1	11	117403130	Nonsense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	4299259	117403130	17603386	298	8197											
PHLDB1	23187	broad.mit.edu	37	chr11	118513088	118513088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcccccgcctctgccCgccaaagcttcccgtcagct	4	10	6	21	3	4	0	1	0	3	0	6	0	5	0	6	0	3	2	6	0	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:118513088C>T	ENST00000361417.2	+	14	3264	c.2853C>T	c.(2851-2853)ccC>ccT	p.P951P	PHLDB1_ENST00000524713.1_Silent_p.P94P|PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000527898.1_Intron|PHLDB1_ENST00000356063.5_Intron	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	951								p.P951P(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CGCCTCTGCCCGCCAAAGCTT	0.637													25	34					0	0	0	0	T	118513088	C	T	118513088	2	4	43	1	0	0	0	0	0	0	0	1	11923	639	23	1		1	PHLDB1	11	118513088	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1109958	118513088	16493428	299	8198											
TMEM225	338661	broad.mit.edu	37	chr11	123754038	123754038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctactggtagacaacttgCactctaggagagagaggact	13	8	12	8	0	1	3	0	0	1	3	1	6	1	4	0	3	4	3	0	3	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:123754038C>T	ENST00000375026.2	-	4	701	c.485G>A	c.(484-486)tGc>tAc	p.C162Y		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	162						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						AGACAACTTGCACTCTAGGAG	0.428													18	34					0	0	0	0	T	123754038	C	T	123754038	3	4	43	1	0	0	0	0	1	0	0	0	16241	710	25	4	196	4	TMEM225	11	123754038	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	5240950	123754038	11252478	300	8199											
TMEM225	338661	broad.mit.edu	37	chr11	123756046	123756046	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattcaacccatttatctaaGgtgattcccatcaccattaa	14	13	3	11	0	3	1	2	1	1	0	4	1	4	1	3	1	1	0	3	1	5	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:123756046G>A	ENST00000375026.2	-	1	303	c.87C>T	c.(85-87)acC>acT	p.T29T		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	29						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATTTATCTAAGGTGATTCCCA	0.423													26	48					0	0	0	0	A	123756046	G	A	123756046	2	1	43	1	0	0	0	0	0	0	0	1	16241	987	35	4		4	TMEM225	11	123756046	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2008	123756046	11250470	301	8200											
OR10G9	219870	broad.mit.edu	37	chr11	123893799	123893799	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctggacgccccactctttgGaatcttcctggtggtttacg	5	13	11	12	2	2	0	0	0	2	0	3	2	3	2	3	4	1	2	3	4	2	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:123893799G>C	ENST00000375024.1	+	1	80	c.80G>C	c.(79-81)gGa>gCa	p.G27A		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCACTCTTTGGAATCTTCCTG	0.572													53	124					0	0	0	0	C	123893799	G	C	123893799	3	2	43	1	0	0	0	0	1	0	0	0	10975	1174	41	2	82	2	OR10G9	11	123893799	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	137753	123893799	11112717	302	8201											
OR10G7	390265	broad.mit.edu	37	chr11	123908971	123908971	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaaagaagcaaaggacCacgatacagtgggaggcaca	16	2	14	9	1	0	1	0	0	0	1	0	4	0	3	2	4	2	2	2	4	4	1	rs142080661		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:123908971C>A	ENST00000330487.5	-	1	746	c.738G>T	c.(736-738)gtG>gtT	p.V246V		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCAAAGGACCACGATACAGT	0.567													28	41					2.44723e-14	3.11039e-14	1	0	A	123908971	C	A	123908971	2	1	43	1	0	0	0	0	0	0	0	1	10973	581	21	4		4	OR10G7	11	123908971	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	15172	123908971	11097545	303	8202											
VWA5A	4013	broad.mit.edu	37	chr11	123988981	123988981	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctccagggatgtcttctCttgcaatgtgggtaacctcc	7	12	10	12	0	2	0	0	0	2	0	5	1	4	1	3	2	3	3	3	2	2	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:123988981C>G	ENST00000456829.2	+	5	583	c.332C>G	c.(331-333)tCt>tGt	p.S111C	VWA5A_ENST00000360334.4_Missense_Mutation_p.S111C|VWA5A_ENST00000361352.5_Missense_Mutation_p.S111C|VWA5A_ENST00000449321.1_Missense_Mutation_p.S111C|VWA5A_ENST00000392744.4_Missense_Mutation_p.S127C|VWA5A_ENST00000392748.1_Missense_Mutation_p.S111C	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	111	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GATGTCTTCTCTTGCAATGTG	0.587													45	45					0	0	0	0	G	123988981	C	G	123988981	3	3	43	1	0	0	0	0	1	0	0	0	17338	913	32	2	342	2	VWA5A	11	123988981	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	80010	123988981	11017535	304	8203											
CDON	50937	broad.mit.edu	37	chr11	125887193	125887193	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcaccacacactccaaggTtacagggctacgagaaagaa	16	5	8	12	1	1	2	1	0	0	2	2	3	2	2	2	2	2	2	2	2	5	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:125887193T>A	ENST00000392693.3	-	6	845	c.718A>T	c.(718-720)Acc>Tcc	p.T240S	CDON_ENST00000263577.7_Missense_Mutation_p.T240S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	240	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CACTCCAAGGTTACAGGGCTA	0.502													22	20					0	0	0	0	A	125887193	T	A	125887193	3	1	43	1	0	0	0	0	1	0	0	0	3199	1725	60	5	3136	5	CDON	11	125887193	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	1898212	125887193	9119323	305	8204											
NCAPD3	23310	broad.mit.edu	37	chr11	134055241	134055241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacaaacctgctgattttCtcccaagattgtattattct	11	16	5	9	0	2	2	0	1	2	1	3	3	2	2	2	0	3	2	2	0	5	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:134055241C>A	ENST00000534548.2	-	17	2290	c.2226G>T	c.(2224-2226)gaG>gaT	p.E742D	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	742					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGCTGATTTTCTCCCAAGATT	0.448													6	9					3.59834e-05	3.86056e-05	1	0	A	134055241	C	A	134055241	3	1	43	1	0	0	0	0	1	0	0	0	10276	912	32	2	2346	2	NCAPD3	11	134055241	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	8168048	134055241	951275	306	8205											
WNK1	65125	broad.mit.edu	37	chr12	1005419	1005420	+	Frame_Shift_Del	DEL	AG	AG	-																															ggtatctcttcagatgtgccAgagagtgcccacaaaactac																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:1005419_1005420delAG	ENST00000537687.1	+	24	7189_7190	c.6546_6547delAG	c.(6544-6549)ccagfs	p.PE2182fs	WNK1_ENST00000535572.1_Frame_Shift_Del_p.PE1674fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.PE2420fs|WNK1_ENST00000315939.6_Frame_Shift_Del_p.PE1922fs|WNK1_ENST00000340908.4_Frame_Shift_Del_p.PE1515fs	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1922					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAGATGTGCCAGAGAGTGCCCA	0.505													20	115	---	---	---	---					-	1005420	AG	-	1005419	7	5	43	1	0	1	0	1	0	0	0	0	17473	175	7	0	7362	0	WNK1	12	1005419	Frame_Shift_Del	DEL	AG	TCGA-BB-7862-01A-21D-2229-08		1005419	132846476	307	8206											
CACNA1C	775	broad.mit.edu	37	chr12	2613673	2613673	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcatctttggatcctttttCgttctaaatctggttctcgg	5	19	8	9	2	5	0	1	0	4	0	8	1	6	1	1	3	0	2	1	3	2	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:2613673C>T	ENST00000399634.1	+	8	1185	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399617.1_Silent_p.F395F|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399641.1_Silent_p.F395F|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399603.1_Silent_p.F395F|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000406454.3_Silent_p.F395F|CACNA1C_ENST00000327702.7_Intron	NM_001167625.1	NP_001161097.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	395					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GATCCTTTTTCGTTCTAAATC	0.488													149	60					0	0	0	0	T	2613673	C	T	2613673	2	4	43	1	0	0	0	0	0	0	0	1	2565	883	31	1		1	CACNA1C	12	2613673	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1608254	2613673	131238222	308	8207											
C1R	715	broad.mit.edu	37	chr12	7242032	7242032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggtaggaccgagggtactCcaggctggagatgtagcctg	8	7	18	8	1	0	1	0	0	0	1	1	4	1	2	3	6	2	4	3	6	3	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:7242032C>T	ENST00000542285.1	-	5	771	c.622G>A	c.(622-624)Gag>Aag	p.E208K				P00736	C1R_HUMAN	complement component 1, r subcomponent	209	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CGAGGGTACTCCAGGCTGGAG	0.622													54	20					0	0	0	0	T	7242032	C	T	7242032	3	4	43	1	0	0	0	0	1	0	0	0	1991	864	30	2	1199	2	C1R	12	7242032	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	4628359	7242032	126609863	309	8208											
CLEC4C	170482	broad.mit.edu	37	chr12	7883448	7883448	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaatgtcgccgaccccCtggatctgacagccccagaa	9	7	9	16	2	1	2	0	1	1	1	2	4	1	3	6	1	2	0	6	1	2	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:7883448C>A	ENST00000542353.1	-	6	932	c.442G>T	c.(442-444)Ggg>Tgg	p.G148W	CLEC4C_ENST00000360345.3_Missense_Mutation_p.G148W|CLEC4C_ENST00000354629.5_Missense_Mutation_p.G117W|CLEC4C_ENST00000540085.1_Missense_Mutation_p.G117W	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	148	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CGCCGACCCCCTGGATCTGAC	0.438													89	50					9.24773e-40	1.3577e-39	1	0	A	7883448	C	A	7883448	3	1	43	1	0	0	0	0	1	0	0	0	3543	681	24	4	207	4	CLEC4C	12	7883448	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	641416	7883448	125968447	310	8209											
PRB4	5545	broad.mit.edu	37	chr12	11461215	11461215	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaggtctgggtggcctGcccccttgaggaggtggagg	4	8	20	9	0	1	1	0	1	1	0	1	3	1	3	3	8	1	1	3	8	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:11461215G>C	ENST00000279575.1	-	3	735	c.702C>G	c.(700-702)ggC>ggG	p.G234G	PRB4_ENST00000445719.2_Silent_p.G165G|PRB4_ENST00000535904.1_Silent_p.G234G	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	297	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGGTGGCCTGCCCCCTTGAG	0.577										HNSCC(22;0.051)			63	328					0	0	0	0	C	11461215	G	C	11461215	2	2	43	1	0	0	0	0	0	0	0	1	12525	1306	46	4		4	PRB4	12	11461215	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	3577767	11461215	122390680	311	8210											
PRB1	5542	broad.mit.edu	37	chr12	11506214	11506214	+	Frame_Shift_Del	DEL	G	G	-																															tggctttcctggaggagatcGggcactttgggacttgctgc																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:11506214delG	ENST00000500254.2	-	4	461	c.424delC	c.(424-426)gafs	p.R142fs	PRB1_ENST00000546254.1_Frame_Shift_Del_p.R142fs|PRB1_ENST00000545626.1_Frame_Shift_Del_p.R122fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	336	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGGAGATCGGGCACTTTGG	0.607													495	43	---	---	---	---					-	11506214	G	-	11506214	7	5	43	1	0	1	0	1	0	0	0	0	12522	1124	39	0	176	0	PRB1	12	11506214	Frame_Shift_Del	DEL	G	TCGA-BB-7862-01A-21D-2229-08	44999	11506214	122345681	312	8211											
PRB2	653247	broad.mit.edu	37	chr12	11546792	11546792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttgtggctttcctggagGaggtgggggaccttgaggct	4	12	17	8	0	0	1	0	1	0	0	2	4	2	4	3	7	0	2	3	7	0	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:11546792G>T	ENST00000389362.4	-	3	255	c.220C>A	c.(220-222)Cct>Act	p.P74T	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTCCTGGAGGAGGTGGGGGA	0.602													149	509					1.19998e-34	1.74722e-34	1	0	T	11546792	G	T	11546792	3	4	43	1	0	0	0	0	1	0	0	0	12523	1174	41	2	1034	2	PRB2	12	11546792	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	40578	11546792	122305103	313	8212											
GRIN2B	2904	broad.mit.edu	37	chr12	13716736	13716736	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaggtctacgtgctcccAgtggggtgagttctcctttg	4	13	14	10	1	3	1	1	1	2	0	5	1	4	1	2	4	2	2	2	4	1	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:13716736A>G	ENST00000279593.3	-	13	3645	c.3436T>C	c.(3436-3438)Tgg>Cgg	p.W1146R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1146					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACGTGCTCCCAGTGGGGTGAG	0.587													30	88					0	0	0	0	G	13716736	A	G	13716736	3	3	43	1	0	0	0	0	1	0	0	0	6830	188	7	5	1022	5	GRIN2B	12	13716736	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	2169944	13716736	120135159	314	8213											
HDAC7	51564	broad.mit.edu	37	chr12	48185409	48185409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtttgaggcggctgagcggGttggtgccgtagaggagcac	7	8	19	7	3	0	3	0	2	0	1	0	4	0	4	1	5	3	5	1	5	1	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:48185409G>T	ENST00000080059.7	-	15	1892	c.1893C>A	c.(1891-1893)aaC>aaA	p.N631K	HDAC7_ENST00000427332.2_Missense_Mutation_p.N592K|HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000354334.3_Missense_Mutation_p.N594K|HDAC7_ENST00000380610.4_Missense_Mutation_p.N648K|HDAC7_ENST00000552960.1_Missense_Mutation_p.N614K	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	592	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GGCTGAGCGGGTTGGTGCCGT	0.627													8	9					0.0477658	0.0486843	1	0	T	48185409	G	T	48185409	3	4	43	1	0	0	0	0	1	0	0	0	7062	1252	44	4	1130	4	HDAC7	12	48185409	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	34468673	48185409	85666486	315	8214											
AQP2	359	broad.mit.edu	37	chr12	50344932	50344932	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgctctgctccatgagAtcacgccagcagacatccgc	9	6	10	16	3	2	2	1	1	1	2	4	4	4	2	4	0	3	3	4	0	0	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:50344932A>G	ENST00000199280.3	+	1	404	c.319A>G	c.(319-321)Atc>Gtc	p.I107V		NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	107					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GCTCCATGAGATCACGCCAGC	0.642													11	25					0	0	0	0	G	50344932	A	G	50344932	3	3	43	1	0	0	0	0	1	0	0	0	828	333	12	5	321	5	AQP2	12	50344932	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	2159523	50344932	83506963	316	8215											
SCN8A	6334	broad.mit.edu	37	chr12	52159508	52159508	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctgaacatgctaatcaaGattattggaaattcagtggg	14	11	9	7	0	2	2	2	1	0	1	2	3	2	3	1	2	2	1	1	2	5	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:52159508G>A	ENST00000354534.5	+	16	2776	c.2598G>A	c.(2596-2598)aaG>aaA	p.K866K	SCN8A_ENST00000545061.1_Silent_p.K866K|SCN8A_ENST00000550891.1_Silent_p.K866K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	866					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGCTAATCAAGATTATTGGAA	0.428													18	20					0	0	0	0	A	52159508	G	A	52159508	2	1	43	1	0	0	0	0	0	0	0	1	14011	933	33	2		2	SCN8A	12	52159508	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1814576	52159508	81692387	317	8216											
KRT80	144501	broad.mit.edu	37	chr12	52566834	52566835	+	Frame_Shift_Del	DEL	AG	AG	-																															atactcacatggctcttgacAgagaggatctgggaccgcag																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:52566834_52566835delAG	ENST00000313234.5	-	6	1041_1042	c.944_945delCT	c.(943-945)tfs	p.S315fs	KRT80_ENST00000394815.2_Frame_Shift_Del_p.S315fs	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	315	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GGCTCTTGACAGAGAGGATCTG	0.624													24	45	---	---	---	---					-	52566835	AG	-	52566834	7	5	43	1	0	1	0	1	0	0	0	0	8546	175	7	0	464	0	KRT80	12	52566834	Frame_Shift_Del	DEL	AG	TCGA-BB-7862-01A-21D-2229-08	407326	52566834	81285061	318	8217											
KRT5	3852	broad.mit.edu	37	chr12	52912808	52912808	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgttcccccacgatgctgTccagctgcctcctgaggttg	4	10	10	17	2	0	1	0	1	0	0	3	2	3	1	6	1	3	4	6	1	0	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:52912808T>A	ENST00000252242.4	-	2	1082	c.692A>T	c.(691-693)gAc>gTc	p.D231V		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	231	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACGATGCTGTCCAGCTGCCT	0.587													6	217					0	0	0	0	A	52912808	T	A	52912808	3	1	43	1	0	0	0	0	1	0	0	0	8531	1667	58	5	1112	5	KRT5	12	52912808	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	345974	52912808	80939087	319	8218											
HOXC9	3225	broad.mit.edu	37	chr12	54396287	54396287	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctacaccaagtaccagacGctggaactggagaaggagtt	13	6	11	11	1	0	2	0	0	0	2	0	5	0	4	3	3	3	3	3	3	5	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:54396287G>A	ENST00000303450.4	+	2	682	c.612G>A	c.(610-612)acG>acA	p.T204T	HOXC9_ENST00000508190.1_Silent_p.T204T|HOXC9_ENST00000504557.1_3'UTR	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	204					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGTACCAGACGCTGGAACTGG	0.572													33	70					0	0	0	0	A	54396287	G	A	54396287	2	1	43	1	0	0	0	0	0	0	0	1	7367	1074	38	1		1	HOXC9	12	54396287	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1483479	54396287	79455608	320	8219											
ESYT1	23344	broad.mit.edu	37	chr12	56522379	56522379	+	Frame_Shift_Del	DEL	C	C	-																															gccctctacctgggctggcgCcgggtccgcgacgagaaaga																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:56522379delC	ENST00000394048.5	+	1	540	c.276delC	c.(274-276)cgfs	p.R93fs	RP11-603J24.5_ENST00000549438.1_RNA|ESYT1_ENST00000267113.4_Frame_Shift_Del_p.R93fs|ESYT1_ENST00000541590.1_Frame_Shift_Del_p.R93fs|RP11-603J24.5_ENST00000550947.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	93						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGGCTGGCGCCGGGTCCGCG	0.617													11	14	---	---	---	---					-	56522379	C	-	56522379	7	5	43	1	0	1	0	1	0	0	0	0	5302	726	26	0	278	0	ESYT1	12	56522379	Frame_Shift_Del	DEL	C	TCGA-BB-7862-01A-21D-2229-08	2126092	56522379	77329516	321	8220											
ARHGAP9	64333	broad.mit.edu	37	chr12	57870384	57870384	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttctcacctgagcttgcgCcccccttgggcaatcttggt	4	12	11	14	1	2	1	1	1	2	0	3	1	2	1	4	3	2	3	4	3	1	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:57870384C>T	ENST00000393797.2	-	10	1419	c.1227G>A	c.(1225-1227)ggG>ggA	p.G409G	ARHGAP9_ENST00000356411.2_Silent_p.G338G|ARHGAP9_ENST00000550288.1_Silent_p.G417G|ARHGAP9_ENST00000424809.2_Silent_p.G338G|ARHGAP9_ENST00000430041.2_Silent_p.G154G|ARHGAP9_ENST00000393791.3_Silent_p.G338G|ARHGAP9_ENST00000550454.1_5'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	338	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TGAGCTTGCGCCCCCCTTGGG	0.562													42	75					0	0	0	0	T	57870384	C	T	57870384	2	4	43	1	0	0	0	0	0	0	0	1	891	726	26	4		4	ARHGAP9	12	57870384	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1348005	57870384	75981511	322	8221											
DNAH10	196385	broad.mit.edu	37	chr12	124289536	124289536	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccaagctggcctcctactAcaaatactgggaaaagaaaa	16	6	7	12	0	0	1	0	0	0	1	1	2	1	2	4	2	4	1	4	2	9	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:124289536A>G	ENST00000409039.3	+	17	2607	c.2582A>G	c.(2581-2583)tAc>tGc	p.Y861C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	861	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCTCCTACTACAAATACTGG	0.468													32	41					0	0	0	0	G	124289536	A	G	124289536	3	3	43	1	0	0	0	0	1	0	0	0	4635	391	14	5	2648	5	DNAH10	12	124289536	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	66419152	124289536	9562359	323	8222											
NCOR2	9612	broad.mit.edu	37	chr12	124846798	124846798	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggggagctggcttggTgggagctgcgtcctcccggg	2	8	21	10	2	0	0	0	0	0	0	2	2	2	2	2	7	3	4	2	7	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:124846798T>A	ENST00000356219.3	-	23	3126	c.2971A>T	c.(2971-2973)Acc>Tcc	p.T991S	NCOR2_ENST00000429285.2_Missense_Mutation_p.T974S|NCOR2_ENST00000405201.1_Missense_Mutation_p.T992S|NCOR2_ENST00000404621.1_Missense_Mutation_p.T974S|NCOR2_ENST00000404121.2_Missense_Mutation_p.T545S|NCOR2_ENST00000397355.1_Missense_Mutation_p.T975S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	992					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTGGCTTGGTGGGAGCTGCG	0.667													9	6					0	0	0	0	A	124846798	T	A	124846798	3	1	43	1	0	0	0	0	1	0	0	0	10306	1696	59	5	4698	5	NCOR2	12	124846798	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	557262	124846798	9005097	324	8223											
ULK1	8408	broad.mit.edu	37	chr12	132396562	132396562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttcctgcacagctccCgggactctggtggcagcaag	6	8	13	14	1	1	0	0	0	1	0	3	1	3	1	2	4	3	5	2	4	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:132396562C>T	ENST00000321867.4	+	13	1375	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	342	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCACAGCTCCCGGGACTCTGG	0.652													14	18					0	0	0	0	T	132396562	C	T	132396562	3	4	43	1	0	0	0	0	1	0	0	0	17071	643	23	1	1074	1	ULK1	12	132396562	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	7549764	132396562	1455333	325	8224											
P2RX2	22953	broad.mit.edu	37	chr12	133196319	133196319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccacccactcccagaccCagggaacctgccccgaggtg	9	3	11	18	1	0	1	0	0	0	1	1	3	1	2	7	3	2	0	7	3	1	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:133196319C>G	ENST00000389110.3	+	3	401	c.364C>G	c.(364-366)Cag>Gag	p.Q122E	P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.Q122E|P2RX2_ENST00000343948.4_Missense_Mutation_p.Q122E	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	122					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CTCCCAGACCCAGGGAACCTG	0.736													10	12					0	0	0	0	G	133196319	C	G	133196319	3	3	43	1	0	0	0	0	1	0	0	0	11411	595	21	4	374	4	P2RX2	12	133196319	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	799757	133196319	655576	326	8225											
MTMR6	9107	broad.mit.edu	37	chr13	25825793	25825793	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagaatacttacagattcTaggtctttaatatctttctc	11	18	4	8	0	5	2	1	0	4	2	6	2	5	2	0	1	2	0	0	1	6	9			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:25825793T>C	ENST00000381801.5	-	13	2360	c.1599A>G	c.(1597-1599)ctA>ctG	p.L533L	MTMR6_ENST00000540661.1_Silent_p.L533L	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	533						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTACAGATTCTAGGTCTTTAA	0.274													3	4					0	0	0	0	C	25825793	T	C	25825793	2	2	43	1	0	0	0	0	0	0	0	1	10017	1509	53	5		5	MTMR6	13	25825793	Silent	SNP	T	TCGA-BB-7862-01A-21D-2229-08		25825793	89344085	327	8226											
MTMR6	9107	broad.mit.edu	37	chr13	25840354	25840354	+	Frame_Shift_Del	DEL	C	C	-																															tcagcgagatcaatgagctgCcagccttgtagtcgttctga																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:25840354delC	ENST00000381801.5	-	4	1136	c.375delG	c.(373-375)tgfs	p.W125fs	MTMR6_ENST00000540661.1_Frame_Shift_Del_p.W125fs	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	125	Myotubularin phosphatase.			W -> R (in Ref. 4; CAD89918).		cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CAATGAGCTGCCAGCCTTGTA	0.393													13	13	---	---	---	---					-	25840354	C	-	25840354	7	5	43	1	0	1	0	1	0	0	0	0	10017	740	26	0	1534	0	MTMR6	13	25840354	Frame_Shift_Del	DEL	C	TCGA-BB-7862-01A-21D-2229-08	14561	25840354	89329524	328	8227											
TRPC4	7223	broad.mit.edu	37	chr13	38320428	38320428	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacatctgaactggacacGcattccacacagttacagcg	12	8	7	14	2	1	1	0	1	1	0	3	2	3	2	2	1	3	2	2	1	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:38320428G>T	ENST00000379705.3	-	3	1400	c.543C>A	c.(541-543)tgC>tgA	p.C181*	TRPC4_ENST00000447043.1_Nonsense_Mutation_p.C181*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.C181*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.C181*|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.C181*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.C181*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.C181*|TRPC4_ENST00000379679.1_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	181					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)		AACTGGACACGCATTCCACAC	0.507													34	13					9.17885e-22	1.27351e-21	1	0	T	38320428	G	T	38320428	4	4	43	1	0	0	0	0	0	1	0	0	16675	1079	38	3	2441	3	TRPC4	13	38320428	Nonsense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	12480074	38320428	76849450	329	8228											
TRPC4	7223	broad.mit.edu	37	chr13	38357115	38357115	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttttctccactaggttttTtgtggttcaataacagctca	8	18	7	8	0	3	0	2	0	1	0	4	0	3	0	1	2	2	4	1	2	3	8			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:38357115T>C	ENST00000379705.3	-	2	1213	c.356A>G	c.(355-357)aAa>aGa	p.K119R	TRPC4_ENST00000447043.1_Missense_Mutation_p.K119R|TRPC4_ENST00000358477.2_Missense_Mutation_p.K119R|TRPC4_ENST00000355779.2_Missense_Mutation_p.K119R|TRPC4_ENST00000338947.5_Missense_Mutation_p.K119R|TRPC4_ENST00000379673.2_Missense_Mutation_p.K119R|TRPC4_ENST00000426868.2_Missense_Mutation_p.K119R|TRPC4_ENST00000379681.3_Missense_Mutation_p.K119R|TRPC4_ENST00000379679.1_Missense_Mutation_p.K119R			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	119	Multimerization domain (By similarity).				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)		ACTAGGTTTTTTGTGGTTCAA	0.323													26	8					0	0	0	0	C	38357115	T	C	38357115	3	2	43	1	0	0	0	0	1	0	0	0	16675	1841	64	5	2632	5	TRPC4	13	38357115	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	36687	38357115	76812763	330	8229											
AKAP11	11215	broad.mit.edu	37	chr13	42891737	42891737	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcacggtagacccccagctAaggattattcttcagtggct	9	11	10	11	1	2	1	1	0	1	1	2	2	2	2	2	3	2	4	2	3	3	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:42891737A>G	ENST00000025301.2	+	12	5653	c.5478A>G	c.(5476-5478)ctA>ctG	p.L1826L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1826					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ACCCCCAGCTAAGGATTATTC	0.393													19	9					0	0	0	0	G	42891737	A	G	42891737	2	3	43	1	0	0	0	0	0	0	0	1	447	349	13	5		5	AKAP11	13	42891737	Silent	SNP	A	TCGA-BB-7862-01A-21D-2229-08	4534622	42891737	72278141	331	8230											
ZC3H13	23091	broad.mit.edu	37	chr13	46594641	46594641	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttctggagttctttcctTagtgatttttatgtcttcct	5	22	6	8	0	3	1	0	1	3	0	5	2	5	2	2	1	0	1	2	1	2	8			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:46594641T>C	ENST00000242848.4	-	5	739	c.391A>G	c.(391-393)Aag>Gag	p.K131E	ZC3H13_ENST00000282007.3_Missense_Mutation_p.K131E			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	131							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GTTCTTTCCTTAGTGATTTTT	0.299													15	2					0	0	0	0	C	46594641	T	C	46594641	3	2	43	1	0	0	0	0	1	0	0	0	17660	1763	61	5	4355	5	ZC3H13	13	46594641	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	3702904	46594641	68575237	332	8231											
EFNB2	1948	broad.mit.edu	37	chr13	107145598	107145598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctgagcgacagcgtggtCgtgtgctgcggcgagtgctt	4	10	18	9	5	0	1	0	1	0	0	1	3	0	1	0	2	6	3	0	2	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:107145598C>T	ENST00000245323.4	-	5	941	c.792G>A	c.(790-792)acG>acA	p.T264T		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	264					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ACAGCGTGGTCGTGTGCTGCG	0.572													22	20					0	0	0	0	T	107145598	C	T	107145598	2	4	43	1	0	0	0	0	0	0	0	1	4992	871	31	1		1	EFNB2	13	107145598	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	60550957	107145598	8024280	333	8232											
ANKRD10	55608	broad.mit.edu	37	chr13	111567112	111567112	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgcacgggcgtccagccaTagaaggagtcctcagaggcc	10	5	14	12	2	1	2	1	0	0	2	3	3	3	3	4	3	2	1	4	3	2	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:111567112T>C	ENST00000375758.5	-	1	304	c.170A>G	c.(169-171)tAt>tGt	p.Y57C	ANKRD10_ENST00000267339.2_Missense_Mutation_p.Y57C|ANKRD10_ENST00000310847.4_Missense_Mutation_p.Y57C			Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	57										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			CGTCCAGCCATAGAAGGAGTC	0.677													3	5					0	0	0	0	C	111567112	T	C	111567112	3	2	43	1	0	0	0	0	1	0	0	0	638	1406	49	5	1116	5	ANKRD10	13	111567112	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	4421514	111567112	3602766	334	8233											
OR4K5	79317	broad.mit.edu	37	chr14	20389165	20389165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaaacccttatactatgtgGtcatcatgagccgaaggaca	13	9	9	10	1	2	1	2	1	0	0	2	3	2	2	2	2	3	1	2	2	5	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr14:20389165G>T	ENST00000315915.4	+	1	425	c.400G>T	c.(400-402)Gtc>Ttc	p.V134F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACTATGTGGTCATCATGAG	0.443													98	34					1.53041e-28	2.19815e-28	1	0	T	20389165	G	T	20389165	3	4	43	1	0	0	0	0	1	0	0	0	11144	1261	44	4	402	4	OR4K5	14	20389165	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08		20389165	86960375	335	8234											
NDRG2	57447	broad.mit.edu	37	chr14	21487854	21487854	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggttgggtgcatgtgtaatGatatttctgtacttttgtat	8	19	11	3	0	1	1	0	1	1	0	1	1	1	1	0	2	2	5	0	2	4	8			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr14:21487854G>A	ENST00000556147.1	-	10	1600	c.660C>T	c.(658-660)atC>atT	p.I220I	NDRG2_ENST00000397855.3_Silent_p.I177I|NDRG2_ENST00000553503.1_Silent_p.I206I|NDRG2_ENST00000403829.3_Silent_p.I216I|NDRG2_ENST00000554143.1_Silent_p.I206I|NDRG2_ENST00000397844.2_Silent_p.I206I|NDRG2_ENST00000397851.2_Silent_p.I220I|NDRG2_ENST00000350792.3_Silent_p.I206I|NDRG2_ENST00000554104.1_Silent_p.I133I|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000397858.1_Silent_p.I220I|NDRG2_ENST00000397847.2_Silent_p.I220I|NDRG2_ENST00000397856.3_Silent_p.I206I|NDRG2_ENST00000298684.5_Silent_p.I177I|NDRG2_ENST00000555158.1_Silent_p.I206I|NDRG2_ENST00000397853.3_Silent_p.I220I|NDRG2_ENST00000360463.3_Silent_p.I206I|NDRG2_ENST00000298687.5_Silent_p.I220I			Q9UN36	NDRG2_HUMAN	NDRG family member 2	220					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CATGTGTAATGATATTTCTGT	0.403													8	7					0	0	0	0	A	21487854	G	A	21487854	2	1	43	1	0	0	0	0	0	0	0	1	10322	1280	45	2		2	NDRG2	14	21487854	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1098689	21487854	85861686	336	8235											
NRXN3	9369	broad.mit.edu	37	chr14	79181141	79181141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcacgccattcaccgccaGtggggagagcgagatcctgg	8	5	15	13	4	1	2	1	0	0	2	2	4	2	2	4	3	1	1	4	3	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr14:79181141G>A	ENST00000554719.1	+	5	1075	c.584G>A	c.(583-585)aGt>aAt	p.S195N	NRXN3_ENST00000335750.5_Missense_Mutation_p.S195N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	201	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)		TTCACCGCCAGTGGGGAGAGC	0.572													79	43					0	0	0	0	A	79181141	G	A	79181141	3	1	43	1	0	0	0	0	1	0	0	0	10738	1029	36	4	594	4	NRXN3	14	79181141	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	57693287	79181141	28168399	337	8236											
KCNK10	54207	broad.mit.edu	37	chr14	88658719	88658719	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgaacaggatggttgaGatgacccggatcttggtctg	11	10	14	6	1	2	4	0	3	2	2	2	7	2	6	1	4	1	1	1	4	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr14:88658719G>T	ENST00000340700.5	-	5	1153	c.702C>A	c.(700-702)atC>atA	p.I234I	KCNK10_ENST00000312350.5_Silent_p.I239I|KCNK10_ENST00000319231.5_Silent_p.I239I	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	234					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGATGGTTGAGATGACCCGGA	0.493													43	25					5.48756e-27	7.8183e-27	1	0	T	88658719	G	T	88658719	2	4	43	1	0	0	0	0	0	0	0	1	8112	932	33	2		2	KCNK10	14	88658719	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	9477578	88658719	18690821	338	8237											
SERPINA10	51156	broad.mit.edu	37	chr14	94754646	94754646	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttcatgtttctgagccaTgtctccaccaagtctgtggt	6	16	9	10	0	4	1	1	1	3	0	5	1	4	1	3	1	1	2	3	1	1	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr14:94754646T>A	ENST00000554723.1	-	3	1507	c.1089A>T	c.(1087-1089)acA>acT	p.T363T	SERPINA10_ENST00000554173.1_Silent_p.T323T|SERPINA10_ENST00000393096.1_Silent_p.T323T|SERPINA10_ENST00000261994.4_Silent_p.T323T			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	323					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTCTGAGCCATGTCTCCACCA	0.493													33	17					0	0	0	0	A	94754646	T	A	94754646	2	1	43	1	0	0	0	0	0	0	0	1	14174	1451	51	5		5	SERPINA10	14	94754646	Silent	SNP	T	TCGA-BB-7862-01A-21D-2229-08	6095927	94754646	12594894	339	8238											
OR4M2	390538	broad.mit.edu	37	chr15	22368660	22368660	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtccaactagtcctatttGttatatttctatccttctat	9	19	4	9	0	2	0	0	0	2	0	5	0	5	0	3	1	1	1	3	1	7	9			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:22368660G>C	ENST00000332663.2	+	1	183	c.85G>C	c.(85-87)Gtt>Ctt	p.V29L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGTCCTATTTGTTATATTTCT	0.393													56	194					0	0	0	0	C	22368660	G	C	22368660	3	2	43	1	0	0	0	0	1	0	0	0	11147	1377	48	4	87	4	OR4M2	15	22368660	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08		22368660	80162732	340	8239											
MKRN3	7681	broad.mit.edu	37	chr15	23812141	23812141	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctgcaggtattttgcGgaaggcaggggtaactgccc	9	8	15	9	1	0	0	0	0	0	0	0	1	0	1	2	6	4	4	2	6	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:23812141G>A	ENST00000314520.3	+	1	1688	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A	MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	404						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGTATTTTGCGGAAGGCAGGG	0.522													39	95					0	0	0	0	A	23812141	G	A	23812141	2	1	43	1	0	0	0	0	0	0	0	1	9677	1103	39	1		1	MKRN3	15	23812141	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1443481	23812141	78719251	341	8240											
NDN	4692	broad.mit.edu	37	chr15	23931740	23931740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagcacgttccagacggCgctctctctggcgccgcggc	4	6	14	17	7	2	1	0	0	2	1	4	1	3	1	2	3	1	4	2	3	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:23931740C>T	ENST00000331837.4	-	1	710	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	209	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTCCAGACGGCGCTCTCTCTG	0.637									Prader-Willi syndrome				20	57					0	0	0	0	T	23931740	C	T	23931740	3	4	43	1	0	0	0	0	1	0	0	0	10317	768	27	1	344	1	NDN	15	23931740	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	119599	23931740	78599652	342	8241											
ATP10A	57194	broad.mit.edu	37	chr15	25947134	25947134	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcatatgcaatgttgaCagctgtttcttgtttgtcac	8	15	10	8	0	2	1	1	1	1	0	2	1	2	1	0	1	2	7	0	1	2	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:25947134C>A	ENST00000356865.6	-	13	2800	c.2689G>T	c.(2689-2691)Gtc>Ttc	p.V897F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	897					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCAATGTTGACAGCTGTTTCT	0.532													36	85					2.75727e-19	3.7567e-19	1	0	A	25947134	C	A	25947134	3	1	43	1	0	0	0	0	1	0	0	0	1120	478	17	4	1846	4	ATP10A	15	25947134	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	2015394	25947134	76584258	343	8242											
RYR3	6263	broad.mit.edu	37	chr15	33916022	33916022	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagagtacgtttcctgaTgggtggacgtcatggagagt	9	11	15	6	2	1	4	1	2	0	2	2	6	2	5	1	3	1	2	1	3	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:33916022T>A	ENST00000389232.4	+	20	2442	c.2372T>A	c.(2371-2373)aTg>aAg	p.M791K	RYR3_ENST00000415757.3_Missense_Mutation_p.M791K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	791	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGTTTCCTGATGGGTGGACGT	0.423													58	43					0	0	0	0	A	33916022	T	A	33916022	3	1	43	1	0	0	0	0	1	0	0	0	13855	1464	51	5	2450	5	RYR3	15	33916022	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	7968888	33916022	68615370	344	8243											
RYR3	6263	broad.mit.edu	37	chr15	33926903	33926903	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcacttttgttggttacggGtataacattgagccatcaga	10	13	10	8	2	1	2	1	1	0	1	1	2	1	2	1	2	3	4	1	2	3	7	rs2291733		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:33926903G>A	ENST00000389232.4	+	25	3214	c.3144G>A	c.(3142-3144)ggG>ggA	p.G1048G	RYR3_ENST00000415757.3_Silent_p.G1048G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1048	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGGTTACGGGTATAACATTG	0.483													66	47					0	0	0	0	A	33926903	G	A	33926903	2	1	43	1	0	0	0	0	0	0	0	1	13855	1248	44	4		4	RYR3	15	33926903	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	10881	33926903	68604489	345	8244											
SHC4	399694	broad.mit.edu	37	chr15	49254847	49254847	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgctggaacctgggtcccgGctttcctggagcttcagccg	4	9	13	15	3	1	0	1	0	0	0	3	2	3	2	5	4	3	3	5	4	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:49254847G>A	ENST00000332408.4	-	1	794	c.366C>T	c.(364-366)agC>agT	p.S122S		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	122	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CTGGGTCCCGGCTTTCCTGGA	0.597													19	48					0	0	0	0	A	49254847	G	A	49254847	2	1	43	1	0	0	0	0	0	0	0	1	14361	1194	42	4		4	SHC4	15	49254847	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	15327944	49254847	53276545	346	8245											
GABPB1	2553	broad.mit.edu	37	chr15	50570858	50570858	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttctttattagtctgaagacGagtcatagcttccaacttct	10	16	6	9	1	4	2	1	1	3	1	5	3	5	2	1	0	2	1	1	0	5	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:50570858G>C	ENST00000380877.3	-	9	1546	c.1123C>G	c.(1123-1125)Cgt>Ggt	p.R375G	GABPB1_ENST00000220429.8_Missense_Mutation_p.R387G|GABPB1_ENST00000543881.1_Missense_Mutation_p.R311G	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	387					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						GTCTGAAGACGAGTCATAGCT	0.373													5	112					0	0	0	0	C	50570858	G	C	50570858	3	2	43	1	0	0	0	0	1	0	0	0	6206	1058	37	3	32	3	GABPB1	15	50570858	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1316011	50570858	51960534	347	8246											
MYO1E	4643	broad.mit.edu	37	chr15	59553688	59553688	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaaagggttgactgagatTaatacagatcctatatatgt	14	14	9	4	0	0	4	0	3	0	2	1	5	1	4	1	1	1	1	1	1	6	7			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:59553688T>C	ENST00000288235.4	-	3	567	c.168A>G	c.(166-168)ttA>ttG	p.L56L	MYO1E_ENST00000558814.1_Intron	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	56	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TGACTGAGATTAATACAGATC	0.338													42	14					0	0	0	0	C	59553688	T	C	59553688	2	2	43	1	0	0	0	0	0	0	0	1	10142	1751	61	5		5	MYO1E	15	59553688	Silent	SNP	T	TCGA-BB-7862-01A-21D-2229-08	8982830	59553688	42977704	348	8247											
IGF1R	3480	broad.mit.edu	37	chr15	99460071	99460071	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaataccgcaaagtctttGagaatttcctgcacaactcc	12	11	6	12	1	1	2	0	2	1	1	3	3	3	2	3	0	3	2	3	0	5	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:99460071G>C	ENST00000268035.6	+	10	2778	c.2167G>C	c.(2167-2169)Gag>Cag	p.E723Q	IGF1R_ENST00000558762.1_Missense_Mutation_p.E723Q	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	723					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CAAAGTCTTTGAGAATTTCCT	0.542													10	26					0	0	0	0	C	99460071	G	C	99460071	3	2	43	1	0	0	0	0	1	0	0	0	7624	1291	45	2	2205	2	IGF1R	15	99460071	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	39906383	99460071	3071321	349	8248											
TELO2	9894	broad.mit.edu	37	chr16	1544453	1544453	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggaggagtttgcctcggcCcacttctcgcctgtcctcag	6	10	11	14	2	2	0	1	0	1	0	5	2	3	2	4	3	1	1	4	3	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:1544453C>T	ENST00000262319.6	+	2	450	c.171C>T	c.(169-171)gcC>gcT	p.A57A		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	57						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TTGCCTCGGCCCACTTCTCGC	0.647											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	120					0	0	0	0	T	1544453	C	T	1544453	2	4	43	1	0	0	0	0	0	0	0	1	15851	610	22	4		4	TELO2	16	1544453	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08		1544453	88810300	350	8249											
ZC3H7A	29066	broad.mit.edu	37	chr16	11862237	11862237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccttcgaggggatgtcttgGagtcactgatgaagatggtt	8	13	14	6	1	2	3	1	2	1	1	4	6	3	5	1	4	0	1	1	4	1	3	rs147099217		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:11862237G>A	ENST00000396516.2	-	11	1491	c.1294C>T	c.(1294-1296)Cca>Tca	p.P432S	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.P432S			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	432						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GGATGTCTTGGAGTCACTGAT	0.413													38	47					0	0	0	0	A	11862237	G	A	11862237	3	1	43	1	0	0	0	0	1	0	0	0	17667	1174	41	2	1669	2	ZC3H7A	16	11862237	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	10317784	11862237	78492516	351	8250											
NOMO1	23420	broad.mit.edu	37	chr16	14976452	14976452	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgagtttttttgcagcCgggatgtgtgtaccacgttc	5	15	11	10	2	0	1	0	1	0	0	2	2	1	2	3	1	3	4	3	1	1	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:14976452C>T	ENST00000287667.7	+	26	3200	c.3027_splice	c.e26-1	p.P1010_splice		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1010						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTTTTGCAGCCGGGATGTGTG	0.547													57	81					0	0	0	0	T	14976452	C	T	14976452	5	4	43	1	0	0	0	0	0	0	1	0	10601	666	23	1	3131	1	NOMO1	16	14976452	Splice_Site	SNP	C	TCGA-BB-7862-01A-21D-2229-08	3114215	14976452	75378301	352	8251											
GPRC5B	51704	broad.mit.edu	37	chr16	19883697	19883697	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaccagctgccagcccgcGgggcccgtgccatgccgcac	5	3	12	21	4	0	0	0	0	0	0	0	0	0	0	7	2	5	2	7	2	0	0	rs144341472		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:19883697G>T	ENST00000300571.2	-	2	662	c.471C>A	c.(469-471)ccC>ccA	p.P157P	GPRC5B_ENST00000569847.1_Silent_p.P157P|GPRC5B_ENST00000569479.1_Silent_p.P157P|GPRC5B_ENST00000535671.1_Silent_p.P157P|GPRC5B_ENST00000537135.1_Silent_p.P183P	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	157										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCAGCCCGCGGGGCCCGTGC	0.687													20	37					3.51602e-12	4.36414e-12	1	0	T	19883697	G	T	19883697	2	4	43	1	0	0	0	0	0	0	0	1	6775	1103	39	3		3	GPRC5B	16	19883697	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	4907245	19883697	70471056	353	8252											
ACSM2A	123876	broad.mit.edu	37	chr16	20497919	20497919	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttgtcttgaacctgccCaagactgtcacagggaaaat	12	10	10	9	0	2	2	1	1	1	1	2	4	2	3	2	1	2	1	2	1	4	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:20497919C>A	ENST00000573854.1	+	14	1767	c.1653C>A	c.(1651-1653)ccC>ccA	p.P551P	ACSM2A_ENST00000417235.2_Silent_p.P472P|ACSM2A_ENST00000219054.6_Silent_p.P551P|ACSM2A_ENST00000396104.2_Silent_p.P551P|ACSM2A_ENST00000536134.1_Silent_p.P323P|ACSM2A_ENST00000575690.1_Silent_p.P551P	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	551					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGAACCTGCCCAAGACTGTCA	0.478													58	91					1.07796e-43	1.58699e-43	1	0	A	20497919	C	A	20497919	2	1	43	1	0	0	0	0	0	0	0	1	183	581	21	4		4	ACSM2A	16	20497919	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	614222	20497919	69856834	354	8253											
TAOK2	9344	broad.mit.edu	37	chr16	29990342	29990342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatcgcagctgtgacccacGgggcgcttcagggcctggca	7	6	15	13	3	1	2	1	1	0	1	2	2	1	2	2	4	1	4	2	4	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:29990342G>T	ENST00000308893.4	+	6	1443	c.400G>T	c.(400-402)Ggg>Tgg	p.G134W	TAOK2_ENST00000543033.1_Missense_Mutation_p.G134W|TAOK2_ENST00000279394.3_Missense_Mutation_p.G134W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	134	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGTGACCCACGGGGCGCTTCA	0.587													41	57					5.7616e-29	8.29796e-29	1	0	T	29990342	G	T	29990342	3	4	43	1	0	0	0	0	1	0	0	0	15639	1116	39	3	418	3	TAOK2	16	29990342	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	9492423	29990342	60364411	355	8254											
FBRS	64319	broad.mit.edu	37	chr16	30680224	30680224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccggccccctgaggccGcccggactccaggctcagac	5	4	14	18	3	1	2	1	1	0	1	3	3	3	3	6	5	0	1	6	5	0	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:30680224G>A	ENST00000356166.6	+	17	3378	c.2290G>A	c.(2290-2292)Gcc>Acc	p.A764T	FBRS_ENST00000568722.1_Missense_Mutation_p.A156T|FBRS_ENST00000395073.2_Missense_Mutation_p.A156T|FBRS_ENST00000287468.5_Missense_Mutation_p.A244T			Q9HAH7	FBRS_HUMAN	fibrosin	244										ovary(1)	1			Colorectal(24;0.103)			CCCTGAGGCCGCCCGGACTCC	0.716													4	3					0	0	0	0	A	30680224	G	A	30680224	3	1	43	1	0	0	0	0	1	0	0	0	5752	1087	38	1	768	1	FBRS	16	30680224	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	689882	30680224	59674529	356	8255											
SRCAP	10847	broad.mit.edu	37	chr16	30748559	30748559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcgtgtcagtgagcgtcttCgtggagcccgggctgagact	5	10	15	11	4	2	2	1	2	1	1	4	4	2	3	1	2	2	1	1	2	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:30748559C>G	ENST00000262518.4	+	34	7583	c.7198C>G	c.(7198-7200)Cgt>Ggt	p.R2400G	SRCAP_ENST00000395059.2_Missense_Mutation_p.R2338G|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2242G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2400					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGAGCGTCTTCGTGGAGCCCG	0.627													26	33					0	0	0	0	G	30748559	C	G	30748559	3	3	43	1	0	0	0	0	1	0	0	0	15225	884	31	3	7324	3	SRCAP	16	30748559	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	68335	30748559	59606194	357	8256											
HPR	3250	broad.mit.edu	37	chr16	72108244	72108244	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggagcacttgtttcgctaCcagtgtaagaactactacag	11	11	10	9	1	0	1	0	0	0	1	1	2	0	2	1	1	5	4	1	1	5	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:72108244C>G	ENST00000540303.2	+	3	185	c.153C>G	c.(151-153)taC>taG	p.Y51*	HPR_ENST00000356967.5_Nonsense_Mutation_p.Y51*|HPR_ENST00000228226.8_Nonsense_Mutation_p.Y88*|HPR_ENST00000561690.1_Nonsense_Mutation_p.Y51*	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	51	Sushi.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TGTTTCGCTACCAGTGTAAGA	0.488													32	18					0	0	0	0	G	72108244	C	G	72108244	4	3	43	1	0	0	0	0	0	1	0	0	7387	518	18	4	163	4	HPR	16	72108244	Nonsense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	41359685	72108244	18246509	358	8257											
OR3A3	8392	broad.mit.edu	37	chr17	3324532	3324532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacccttggtcttcatcaGtgtgtcctatgcccatgtgg	5	13	11	12	0	3	0	2	0	1	0	4	0	4	0	3	3	1	1	3	3	1	3	rs143627345	by1000genomes	TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:3324532G>T	ENST00000291231.1	+	1	671	c.671G>T	c.(670-672)aGt>aTt	p.S224I		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GTCTTCATCAGTGTGTCCTAT	0.567													33	14					3.80469e-20	5.21056e-20	1	0	T	3324532	G	T	3324532	3	4	43	1	0	0	0	0	1	0	0	0	11110	1029	36	4	673	4	OR3A3	17	3324532	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08		3324532	77870678	359	8258											
TP53	7157	broad.mit.edu	37	chr17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatggccatggcgcggaCgcgggtgccgggcgggggtg	4	5	23	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	1	rs121912654		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCGCGGACGCGGGTGCCG	0.617		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	8					4.35082e-09	5.0129e-09	1	0	A	7578461	C	A	7578461	3	1	43	1	0	0	0	0	1	0	0	0	16476	536	19	3	829	3	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	4253929	7578461	73616749	360	8259											
SLC13A2	9058	broad.mit.edu	37	chr17	26821423	26821423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtagaaaacccagggaagCtgaaggcccctcttggcctc	12	6	11	12	0	1	2	0	1	1	1	2	3	1	3	4	3	2	2	4	3	6	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:26821423C>A	ENST00000444914.3	+	9	1768	c.1348C>A	c.(1348-1350)Ctg>Atg	p.L450M	SLC13A2_ENST00000314669.5_Missense_Mutation_p.L401M|SLC13A2_ENST00000537681.1_Missense_Mutation_p.L330M|SLC13A2_ENST00000545060.1_Missense_Mutation_p.L358M	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	401						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCCAGGGAAGCTGAAGGCCCC	0.567											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	52					6.44725e-10	7.62733e-10	1	0	A	26821423	C	A	26821423	3	1	43	1	0	0	0	0	1	0	0	0	14480	796	28	4	1382	4	SLC13A2	17	26821423	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	19242962	26821423	54373787	361	8260											
SUPT6H	6830	broad.mit.edu	37	chr17	27013800	27013800	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctatatgaacagcaagaAgtcagaggtaatgctggagc	14	9	11	7	0	2	3	1	1	1	2	3	4	2	4	0	2	4	3	0	2	6	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:27013800A>T	ENST00000314616.6	+	21	2976	c.2693A>T	c.(2692-2694)aAg>aTg	p.K898M	SUPT6H_ENST00000347486.4_Missense_Mutation_p.K898M	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	898					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AACAGCAAGAAGTCAGAGGTA	0.488													22	40					0	0	0	0	T	27013800	A	T	27013800	3	4	43	1	0	0	0	0	1	0	0	0	15490	72	3	5	2771	5	SUPT6H	17	27013800	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	192377	27013800	54181410	362	8261											
KRT31	3881	broad.mit.edu	37	chr17	39551868	39551868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagctggcagcgcagggtaTtgacctcctatggatgcaga	10	8	13	10	1	0	2	0	1	0	1	1	3	1	3	2	3	3	5	2	3	3	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:39551868T>C	ENST00000251645.2	-	4	648	c.596A>G	c.(595-597)aAt>aGt	p.N199S		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	199	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCGCAGGGTATTGACCTCCTA	0.483													18	23					0	0	0	0	C	39551868	T	C	39551868	3	2	43	1	0	0	0	0	1	0	0	0	8519	1493	52	5	670	5	KRT31	17	39551868	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	12538068	39551868	41643342	363	8262											
KAT2A	2648	broad.mit.edu	37	chr17	40269097	40269097	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacagaagacaatctccgTgaagccctgggtgggaaaca	14	5	12	10	1	1	3	0	1	1	2	2	4	1	4	2	2	3	1	2	2	4	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:40269097T>C	ENST00000225916.5	-	11	1773	c.1720A>G	c.(1720-1722)Acg>Gcg	p.T574A		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	574	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACAATCTCCGTGAAGCCCTGG	0.617											OREG0024419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	44					0	0	0	0	C	40269097	T	C	40269097	3	2	43	1	0	0	0	0	1	0	0	0	8034	1696	59	5	825	5	KAT2A	17	40269097	Missense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	717229	40269097	40926113	364	8263											
RAMP2	10266	broad.mit.edu	37	chr17	40914628	40914628	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctaggccttatagcaccCtgcgagattgcctggagcac	8	8	10	15	1	0	1	0	0	0	1	0	3	0	2	5	2	4	2	5	2	3	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:40914628C>T	ENST00000589683.1	+	4	427	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	RAMP2_ENST00000588576.1_Silent_p.P59P|RAMP2_ENST00000587142.1_Silent_p.L101L|RAMP2_ENST00000253796.5_Silent_p.L96L			O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	96					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	TTATAGCACCCTGCGAGATTG	0.552													35	38					0	0	0	0	T	40914628	C	T	40914628	2	4	43	1	0	0	0	0	0	0	0	1	13104	680	24	4		4	RAMP2	17	40914628	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	645531	40914628	40280582	365	8264											
ACBD4	79777	broad.mit.edu	37	chr17	43216410	43216410	+	Missense_Mutation	SNP	G	G	T																															gggttgcggggcagcccgccGgggccccaggagttggacgt																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:43216410G>T	ENST00000431281.1	+	11	1179	c.710G>T	c.(709-711)cGg>cTg	p.R237L	ACBD4_ENST00000398322.3_Silent_p.P224P|ACBD4_ENST00000321854.8_Silent_p.P224P|ACBD4_ENST00000586346.1_Missense_Mutation_p.R237L|ACBD4_ENST00000592162.1_Intron|ACBD4_ENST00000376955.4_Missense_Mutation_p.R221L|ACBD4_ENST00000591859.1_Missense_Mutation_p.R237L	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	221							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						GCAGCCCGCCGGGGCCCCAGG	0.677													40	59					6.45866e-13	8.13085e-13	1	0	T	43216410	G	T	43216410	3	4	43	1	0	0	0	0	1	0	0	0	124	1116	39	3	740	3	ACBD4	17	43216410	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2301782	43216410	37978800	366	8265	68	2									
ACBD4	79777	broad.mit.edu	37	chr17	43216411	43216411	+	Missense_Mutation	SNP	G	G	T																															ggttgcggggcagcccgccgGggccccaggagttggacgtg																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:43216411G>T	ENST00000398322.3	+	8	1131	c.673G>T	c.(673-675)Ggg>Tgg	p.G225W	ACBD4_ENST00000321854.8_Missense_Mutation_p.G225W|ACBD4_ENST00000586346.1_Silent_p.R237R|ACBD4_ENST00000592162.1_Intron|ACBD4_ENST00000376955.4_Silent_p.R221R|ACBD4_ENST00000591859.1_Silent_p.R237R|ACBD4_ENST00000431281.1_Silent_p.R237R	NM_024722.2	NP_078998.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	222							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CAGCCCGCCGGGGCCCCAGGA	0.682													41	60					6.48837e-15	8.28635e-15	1	0	T	43216411	G	T	43216411	3	4	43	1	0	0	0	0	1	0	0	0	124	1232	43	4	741	4	ACBD4	17	43216411	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1	43216411	37978799	367	8266	68	2									
MRPL10	124995	broad.mit.edu	37	chr17	45906032	45906032	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagtctggagggtaggcagCcggcctgggagggcatatag	9	6	18	8	1	1	0	0	0	1	0	1	2	1	2	2	6	1	3	2	6	3	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:45906032C>A	ENST00000290208.7	-	2	539	c.87G>T	c.(85-87)cgG>cgT	p.R29R	MRPL10_ENST00000351111.2_Silent_p.R19R|MRPL10_ENST00000414011.1_Silent_p.R29R			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	19					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GGGTAGGCAGCCGGCCTGGGA	0.547													18	24					1.33834e-09	1.56929e-09	1	0	A	45906032	C	A	45906032	2	1	43	1	0	0	0	0	0	0	0	1	9845	726	26	4		4	MRPL10	17	45906032	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	2689621	45906032	35289178	368	8267											
HOXB5	3215	broad.mit.edu	37	chr17	46669598	46669598	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaggcgctgccagctgtAgccaggctcatacttttcaa	9	10	11	11	1	2	0	2	0	0	0	2	1	2	1	2	3	4	4	2	3	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:46669598A>T	ENST00000239151.5	-	2	1061	c.783T>A	c.(781-783)gcT>gcA	p.A261A	HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	261						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						TGCCAGCTGTAGCCAGGCTCA	0.637													44	83					0	0	0	0	T	46669598	A	T	46669598	2	4	43	1	0	0	0	0	0	0	0	1	7354	407	15	5		5	HOXB5	17	46669598	Silent	SNP	A	TCGA-BB-7862-01A-21D-2229-08	763566	46669598	34525612	369	8268											
ANKFN1	162282	broad.mit.edu	37	chr17	54428145	54428145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaattgtcgtgtgaaaatGacgcaacaaatgcaaaattt	17	10	9	5	2	0	2	0	2	0	0	1	3	0	3	0	1	2	2	0	1	7	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:54428145G>A	ENST00000566473.2	+	4	216	c.216G>A	c.(214-216)atG>atA	p.M72I	ANKFN1_ENST00000318698.2_Missense_Mutation_p.M72I			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	72										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GTGTGAAAATGACGCAACAAA	0.388													49	46					0	0	0	0	A	54428145	G	A	54428145	3	1	43	1	0	0	0	0	1	0	0	0	625	1290	45	2	230	2	ANKFN1	17	54428145	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	7758547	54428145	26767065	370	8269											
C17orf47	284083	broad.mit.edu	37	chr17	56621330	56621330	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtccaggtcctgactggAgggagacagatcgagggtag	10	7	17	7	1	0	3	0	1	0	2	3	6	2	4	2	4	0	1	2	4	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:56621330A>C	ENST00000321691.3	-	1	399	c.218T>G	c.(217-219)cTc>cGc	p.L73R	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	73										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTGACTGGAGGGAGACAGA	0.567													55	40					0	0	0	0	C	56621330	A	C	56621330	3	2	43	1	0	0	0	0	1	0	0	0	1873	304	11	5	1502	5	C17orf47	17	56621330	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	2193185	56621330	24573880	371	8270											
CACNG5	27091	broad.mit.edu	37	chr17	64873613	64873613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagatcaagatgtccctgCactcaggcctctggcgggtc	7	8	12	14	2	3	2	2	0	1	2	5	3	4	2	3	3	1	1	3	3	1	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:64873613C>T	ENST00000533854.1	+	2	400	c.163C>T	c.(163-165)Cac>Tac	p.H55Y	CACNG5_ENST00000169565.3_Missense_Mutation_p.H55Y|CACNG5_ENST00000307139.3_Missense_Mutation_p.H55Y			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	55					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GATGTCCCTGCACTCAGGCCT	0.637													40	33					0	0	0	0	T	64873613	C	T	64873613	3	4	43	1	0	0	0	0	1	0	0	0	2585	710	25	4	165	4	CACNG5	17	64873613	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	8252283	64873613	16321597	372	8271											
ARSG	22901	broad.mit.edu	37	chr17	66366632	66366632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgagctagcgggcagtgtgGgtcccttcactggattttgg	5	12	16	8	1	1	1	1	1	0	0	2	2	2	2	1	4	2	2	1	4	1	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:66366632G>T	ENST00000448504.2	+	8	1745	c.949G>T	c.(949-951)Ggt>Tgt	p.G317C	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.G153C	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	317					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGGCAGTGTGGGTCCCTTCAC	0.552													18	20					1.10923e-09	1.30353e-09	1	0	T	66366632	G	T	66366632	3	4	43	1	0	0	0	0	1	0	0	0	996	1232	43	4	975	4	ARSG	17	66366632	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1493019	66366632	14828578	373	8272											
UNK	85451	broad.mit.edu	37	chr17	73815859	73815859	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgccccacccaggaagcatCaccatcggtactgggtgtgg	8	7	13	13	1	1	0	1	0	0	0	2	1	1	1	4	4	3	2	4	4	2	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:73815859C>T	ENST00000293218.3	+	13	1869	c.1869C>T	c.(1867-1869)atC>atT	p.I623I	UNK_ENST00000589666.1_Silent_p.I547I|RP11-552F3.4_ENST00000586808.1_RNA			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	547							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGAAGCATCACCATCGGTA	0.627													21	48					0	0	0	0	T	73815859	C	T	73815859	2	4	43	1	0	0	0	0	0	0	0	1	17096	816	29	2		2	UNK	17	73815859	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	7449227	73815859	7379351	374	8273											
COLEC12	81035	broad.mit.edu	37	chr18	334986	334986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcccggggggcctgggtcCccactggagccctgagggcc	3	4	19	15	1	0	1	0	1	0	0	1	2	1	2	6	7	1	0	6	7	0	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:334986C>T	ENST00000400256.3	-	6	1779	c.1572G>A	c.(1570-1572)ggG>ggA	p.G524G		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	524	Collagen-like 2.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGCCTGGGTCCCCACTGGAGC	0.721													8	20					0	0	0	0	T	334986	C	T	334986	2	4	43	1	0	0	0	0	0	0	0	1	3742	610	22	4		4	COLEC12	18	334986	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08		334986	77742262	375	8274											
LPIN2	9663	broad.mit.edu	37	chr18	2938026	2938026	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgatggtcagatcgttctcTtttgctgacctaaaaaagtt	11	15	8	7	1	2	3	1	2	1	1	4	3	2	3	1	1	1	3	1	1	3	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:2938026T>A	ENST00000261596.4	-	7	1070	c.832A>T	c.(832-834)Aga>Tga	p.R278*		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	278					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GATCGTTCTCTTTTGCTGACC	0.338													29	43					0	0	0	0	A	2938026	T	A	2938026	4	1	43	1	0	0	0	0	0	1	0	0	8983	1617	56	5	1914	5	LPIN2	18	2938026	Nonsense_Mutation	SNP	T	TCGA-BB-7862-01A-21D-2229-08	2603040	2938026	75139222	376	8275											
PTPRM	5797	broad.mit.edu	37	chr18	7955280	7955280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgaccggcagccagtcGattccacgagctataaaatt	13	8	10	10	3	0	1	0	1	0	0	2	4	1	2	3	2	2	2	3	2	4	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:7955280G>T	ENST00000332175.8	+	7	2037	c.1000G>T	c.(1000-1002)Gat>Tat	p.D334Y	PTPRM_ENST00000444013.1_Missense_Mutation_p.D121Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.D334Y|PTPRM_ENST00000400053.4_Missense_Mutation_p.D272Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.D334Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	334	Fibronectin type-III 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCAGCCAGTCGATTCCACGAG	0.572													17	26					3.41278e-10	4.05555e-10	1	0	T	7955280	G	T	7955280	3	4	43	1	0	0	0	0	1	0	0	0	12888	1058	37	3	1026	3	PTPRM	18	7955280	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	5017254	7955280	70121968	377	8276											
CEP192	55125	broad.mit.edu	37	chr18	13087592	13087592	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataaaactgcaacagaactAtcaactgtatacttatttgg	17	12	5	7	0	1	1	1	0	0	1	1	1	1	1	0	1	6	2	0	1	10	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:13087592A>G	ENST00000506447.1	+	32	6020	c.5940A>G	c.(5938-5940)ctA>ctG	p.L1980L	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Silent_p.L1505L|CEP192_ENST00000325971.8_Silent_p.L1384L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1575										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAACAGAACTATCAACTGTAT	0.313													32	45					0	0	0	0	G	13087592	A	G	13087592	2	3	43	1	0	0	0	0	0	0	0	1	3280	436	16	5		5	CEP192	18	13087592	Silent	SNP	A	TCGA-BB-7862-01A-21D-2229-08	5132312	13087592	64989656	378	8277											
SS18	6760	broad.mit.edu	37	chr18	23637654	23637654	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagcgtggaggtgggggaGggccgctctgattcatccct	6	8	18	9	2	2	2	1	1	1	1	3	5	3	4	2	5	1	1	2	5	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:23637654G>C	ENST00000415083.2	-	4	339	c.284C>G	c.(283-285)cCt>cGt	p.P95R	SS18_ENST00000269137.7_Missense_Mutation_p.P95R|SS18_ENST00000539849.1_Missense_Mutation_p.P13R|SS18_ENST00000542420.2_Missense_Mutation_p.P72R|SS18_ENST00000542743.1_Missense_Mutation_p.P43R|SS18_ENST00000545952.1_Missense_Mutation_p.P43R|SS18_ENST00000585241.1_5'UTR	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	95	Poly-Pro.|Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					AGGTGGGGGAGGGCCGCTCTG	0.522			T	"SSX1,  SSX2"	synovial sarcoma								28	175					0	0	0	0	C	23637654	G	C	23637654	3	2	43	1	0	0	0	0	1	0	0	0	15265	1000	35	4	1004	4	SS18	18	23637654	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	10550062	23637654	54439594	379	8278											
ASXL3	80816	broad.mit.edu	37	chr18	31263416	31263416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattgacatagaaaccccaGgatctattcttgtcaacact	14	11	5	11	0	3	2	1	1	2	1	3	3	3	3	2	1	2	0	2	1	4	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:31263416G>A	ENST00000269197.5	+	8	763	c.763G>A	c.(763-765)Gga>Aga	p.G255R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGAAACCCCAGGATCTATTCT	0.418													10	5					0	0	0	0	A	31263416	G	A	31263416	3	1	43	1	0	0	0	0	1	0	0	0	1072	1001	35	4	793	4	ASXL3	18	31263416	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	7625762	31263416	46813832	380	8279											
ELAC1	55520	broad.mit.edu	37	chr18	48510848	48510848	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgtaaaagcatttcgcctCtttcacagaattccctcatt	10	15	5	11	1	3	1	2	0	1	1	5	1	4	1	2	0	1	3	2	0	3	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:48510848C>G	ENST00000269466.3	+	3	647	c.540C>G	c.(538-540)ctC>ctG	p.L180L	RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000591429.1_Silent_p.L180L|RP11-729L2.2_ENST00000588256.1_Intron|SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000588577.1_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	180					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		CATTTCGCCTCTTTCACAGAA	0.388													15	7					0	0	0	0	G	48510848	C	G	48510848	2	3	43	1	0	0	0	0	0	0	0	1	5084	900	32	2		2	ELAC1	18	48510848	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	17247432	48510848	29566400	381	8280											
ATP8B3	148229	broad.mit.edu	37	chr19	1800001	1800001	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagatgttctgcgtgagCgtgcccgtcttgtccgagaa	7	11	13	10	4	3	3	1	1	2	2	4	4	4	3	2	0	3	1	2	0	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:1800001C>A	ENST00000539485.1	-	14	1730	c.1497G>T	c.(1495-1497)acG>acT	p.T499T	ATP8B3_ENST00000526092.1_Silent_p.T446T|ATP8B3_ENST00000310127.6_Silent_p.T499T|ATP8B3_ENST00000525591.1_Silent_p.T452T			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	499					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TCTGCGTGAGCGTGCCCGTCT	0.612													3	3					6.4e-05	6.79909e-05	1	0	A	1800001	C	A	1800001	2	1	43	1	0	0	0	0	0	0	0	1	1200	755	27	3		3	ATP8B3	19	1800001	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08		1800001	57328982	382	8281											
UHRF1	29128	broad.mit.edu	37	chr19	4910983	4910983	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaggtggaggagctgaGgcggaagatccaggagctgt	11	5	18	7	1	0	2	0	1	0	1	1	7	1	6	2	6	2	2	2	6	2	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:4910983G>A	ENST00000592666.1	+	0	662							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAGGAGCTGAGGCGGAAGATC	0.627											OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	66					0	0	0	0	A	4910983	G	A	4910983	1	1	43	0	1	0	0	0	0	0	0	0	17063	1000	35	4		4	UHRF1	19	4910983	RNA	SNP	G	TCGA-BB-7862-01A-21D-2229-08	3110982	4910983	54218000	383	8282											
MUC16	94025	broad.mit.edu	37	chr19	9002556	9002556	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccagctcagtgatgccGtgggtcagctggctcagctt	5	9	15	12	1	3	1	3	1	0	0	3	1	3	1	2	3	4	4	2	3	0	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:9002556G>A	ENST00000397910.4	-	51	40463	c.40260C>T	c.(40258-40260)caC>caT	p.H13420H	MUC16_ENST00000380951.5_Silent_p.H61H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13422	SEA 9.				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						CAGTGATGCCGTGGGTCAGCT	0.582													83	183					0	0	0	0	A	9002556	G	A	9002556	2	1	43	1	0	0	0	0	0	0	0	1	10043	1136	40	1		1	MUC16	19	9002556	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	4091573	9002556	50126427	384	8283											
MUC16	94025	broad.mit.edu	37	chr19	9060524	9060524	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagaaacaatgtcttttatGgtggaagaggtgaccactgg	12	11	13	5	0	1	3	0	1	1	2	1	4	1	4	1	4	1	1	1	4	5	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:9060524G>A	ENST00000397910.4	-	3	27125	c.26922C>T	c.(26920-26922)acC>acT	p.T8974T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8976	Ser-rich.|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						TGTCTTTTATGGTGGAAGAGG	0.488													84	152					0	0	0	0	A	9060524	G	A	9060524	2	1	43	1	0	0	0	0	0	0	0	1	10043	1335	47	4		4	MUC16	19	9060524	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	57968	9060524	50068459	385	8284											
SMARCA4	6597	broad.mit.edu	37	chr19	11144071	11144071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaagatcctagctgcaGccaagtacaagctcaacgtg	14	6	11	10	1	1	2	1	0	0	2	2	3	2	2	2	1	6	4	2	1	6	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:11144071G>A	ENST00000358026.2	+	26	3936	c.3652G>A	c.(3652-3654)Gcc>Acc	p.A1218T	SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1218T|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1218T|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1218T|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1218T|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1218T|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1218T|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1218T|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1218T	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1218	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTAGCTGCAGCCAAGTACAA	0.632			"F, N, Mis"		NSCLC								54	74					0	0	0	0	A	11144071	G	A	11144071	3	1	43	1	0	0	0	0	1	0	0	0	14858	971	34	4	3750	4	SMARCA4	19	11144071	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2083547	11144071	47984912	386	8285											
RAB3D	9545	broad.mit.edu	37	chr19	11436084	11436084	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggccatctctagcagctgCagctgctgggctggggggct	4	8	18	11	0	1	0	0	0	1	0	2	0	1	0	1	6	5	7	1	6	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:11436084C>A	ENST00000222120.3	-	5	910	c.650G>T	c.(649-651)tGc>tTc	p.C217F	RAB3D_ENST00000589655.1_Missense_Mutation_p.C217F|TSPAN16_ENST00000316737.1_Intron	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	217					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						CTAGCAGCTGCAGCTGCTGGG	0.657													8	6					0.0381472	0.0389557	1	0	A	11436084	C	A	11436084	3	1	43	1	0	0	0	0	1	0	0	0	13016	710	25	4	13	4	RAB3D	19	11436084	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	292013	11436084	47692899	387	8286											
ECSIT	51295	broad.mit.edu	37	chr19	11624045	11624045	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatggggtagcttttgcgTccaaagatctgaatcagcag	11	10	12	8	1	2	2	1	1	1	1	3	2	3	2	1	2	4	4	1	2	3	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:11624045T>C	ENST00000270517.7	-	4	699	c.564A>G	c.(562-564)ggA>ggG	p.G188G	ECSIT_ENST00000252440.7_Silent_p.G188G|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591104.1_Silent_p.G188G|ECSIT_ENST00000592312.1_Silent_p.G72G|ECSIT_ENST00000591352.1_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	188					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						AGCTTTTGCGTCCAAAGATCT	0.587													16	31					0	0	0	0	C	11624045	T	C	11624045	2	2	43	1	0	0	0	0	0	0	0	1	4936	1654	58	5		5	ECSIT	19	11624045	Silent	SNP	T	TCGA-BB-7862-01A-21D-2229-08	187961	11624045	47504938	388	8287											
FBXW9	84261	broad.mit.edu	37	chr19	12800869	12800869	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgccggtcatccgccagCagggtcagcacgggtctgga	7	7	15	12	3	3	0	2	0	1	0	4	1	4	1	3	4	3	2	3	4	0	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:12800869C>T	ENST00000380339.3	-	6	1065	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L	FBXW9_ENST00000544494.1_Silent_p.L51L|FBXW9_ENST00000393261.3_Silent_p.L313L|FBXW9_ENST00000587955.1_Silent_p.L333L			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	343							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CATCCGCCAGCAGGGTCAGCA	0.657													39	60					0	0	0	0	T	12800869	C	T	12800869	2	4	43	1	0	0	0	0	0	0	0	1	5816	697	25	4		4	FBXW9	19	12800869	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1176824	12800869	46328114	389	8288											
MAST1	22983	broad.mit.edu	37	chr19	12969605	12969605	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggccgtgctcactggtcaGggctgcggggtggcctgcct	2	8	19	12	2	2	0	2	0	0	0	2	0	2	0	3	7	3	2	3	7	0	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:12969605G>C	ENST00000591495.1	+	13	1423	c.1406G>C	c.(1405-1407)aGg>aCg	p.R469T	MAST1_ENST00000251472.4_Intron			Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	0	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCACTGGTCAGGGCTGCGGGG	0.552													7	17					0	0	0	0	C	12969605	G	C	12969605	3	2	43	1	0	0	0	0	1	0	0	0	9393	1015	35	4		4	MAST1	19	12969605	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	168736	12969605	46159378	390	8289											
ILVBL	10994	broad.mit.edu	37	chr19	15234374	15234374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctccgccatgccggacgCttgccttgtccacctgggcc	3	10	10	18	3	1	0	0	0	1	0	4	1	3	1	7	2	2	1	7	2	0	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:15234374C>A	ENST00000263383.3	-	3	288	c.149G>T	c.(148-150)aGc>aTc	p.S50I	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	50						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						ATGCCGGACGCTTGCCTTGTC	0.632													19	33					5.35267e-07	5.9599e-07	1	0	A	15234374	C	A	15234374	3	1	43	1	0	0	0	0	1	0	0	0	7768	797	28	4	1805	4	ILVBL	19	15234374	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	2264769	15234374	43894609	391	8290											
NOTCH3	4854	broad.mit.edu	37	chr19	15290995	15290995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagtacggccctctgggCacacgcagtagtgggagctg	8	7	14	12	2	1	0	0	0	1	0	1	1	1	1	2	3	3	5	2	3	3	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:15290995C>A	ENST00000263388.2	-	20	3290	c.3215G>T	c.(3214-3216)tGc>tTc	p.C1072F		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1072	EGF-like 27.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCCTCTGGGCACACGCAGTA	0.652													24	55					1.9806e-07	2.22398e-07	1	0	A	15290995	C	A	15290995	3	1	43	1	0	0	0	0	1	0	0	0	10620	710	25	4	3806	4	NOTCH3	19	15290995	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	56621	15290995	43837988	392	8291											
WIZ	58525	broad.mit.edu	37	chr19	15547905	15547905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccccgcagaagtcacagcGcatcaggctgaaggtgcctg	10	5	13	13	2	2	2	2	1	0	1	2	2	2	2	3	2	3	3	3	2	2	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:15547905G>A	ENST00000389282.4	-	4	2521	c.2308C>T	c.(2308-2310)Cgc>Tgc	p.R770C	WIZ_ENST00000595214.2_5'UTR|WIZ_ENST00000263381.6_Missense_Mutation_p.R81C			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	770						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						AAGTCACAGCGCATCAGGCTG	0.657													10	12					0	0	0	0	A	15547905	G	A	15547905	3	1	43	1	0	0	0	0	1	0	0	0	17471	1087	38	1	2167	1	WIZ	19	15547905	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	256910	15547905	43581078	393	8292											
GATAD2A	54815	broad.mit.edu	37	chr19	19606652	19606652	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcgaagctggggccacaggcGagctcacaggtcgtcatgcc	8	6	14	13	3	2	0	2	0	0	0	4	2	2	0	2	4	3	2	2	4	1	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:19606652G>C	ENST00000404158.1	+	8	1132	c.714G>C	c.(712-714)gcG>gcC	p.A238A	GATAD2A_ENST00000252577.5_Silent_p.A238A|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000360315.3_Silent_p.A238A|GATAD2A_ENST00000494516.1_Intron|GATAD2A_ENST00000358713.3_Silent_p.A238A|GATAD2A_ENST00000429563.2_Silent_p.A65A			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	238					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GGCCACAGGCGAGCTCACAGG	0.657													18	28					0	0	0	0	C	19606652	G	C	19606652	2	2	43	1	0	0	0	0	0	0	0	1	6309	1045	37	3		3	GATAD2A	19	19606652	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	4058747	19606652	39522331	394	8293											
GPATCH1	55094	broad.mit.edu	37	chr19	33585111	33585111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaattgctaagaaaaatGggttggaaagaaggacaagg	17	8	13	3	1	0	2	0	0	0	2	1	5	0	4	0	4	1	2	0	4	7	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:33585111G>T	ENST00000170564.2	+	5	803	c.489G>T	c.(487-489)atG>atT	p.M163I		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	163	G-patch.					catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TAAGAAAAATGGGTTGGAAAG	0.383													12	38					6.40141e-05	6.79909e-05	1	0	T	33585111	G	T	33585111	3	4	43	1	0	0	0	0	1	0	0	0	6639	1348	47	4	507	4	GPATCH1	19	33585111	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	13978459	33585111	25543872	395	8294											
LRP3	4037	broad.mit.edu	37	chr19	33696503	33696503	+	Missense_Mutation	SNP	G	G	T																															cctgttcggcgccgctcgcgGgccctcagaccttcactgca																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:33696503G>T	ENST00000253193.7	+	5	1029	c.827G>T	c.(826-828)gGg>gTg	p.G276V		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	276	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCCGCTCGCGGGCCCTCAGAC	0.701													7	20					0.00307968	0.00319419	1	0	T	33696503	G	T	33696503	3	4	43	1	0	0	0	0	1	0	0	0	9022	1232	43	4	845	4	LRP3	19	33696503	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	111392	33696503	25432480	396	8295	69	2									
LRP3	4037	broad.mit.edu	37	chr19	33696504	33696504	+	Silent	SNP	G	G	T																															ctgttcggcgccgctcgcggGccctcagaccttcactgcac																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:33696504G>T	ENST00000253193.7	+	5	1030	c.828G>T	c.(826-828)ggG>ggT	p.G276G		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	276	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CCGCTCGCGGGCCCTCAGACC	0.701													7	20					0.00307968	0.00319419	1	0	T	33696504	G	T	33696504	2	4	43	1	0	0	0	0	0	0	0	1	9022	1190	42	4		4	LRP3	19	33696504	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1	33696504	25432479	397	8296	69	2									
WTIP	126374	broad.mit.edu	37	chr19	34991064	34991064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcagctgagcggggaggagGgacgccgttgctatcccctg	6	7	17	11	3	0	1	0	1	0	0	1	4	1	4	3	4	4	4	3	4	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:34991064G>A	ENST00000590071.2	+	8	1520	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	WTIP_ENST00000270288.6_Missense_Mutation_p.G619R	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGGGGAGGAGGGACGCCGTTG	0.672													10	20					0	0	0	0	A	34991064	G	A	34991064	3	1	43	1	0	0	0	0	1	0	0	0	17506	1233	43	4	1213	4	WTIP	19	34991064	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1294560	34991064	24137919	398	8297											
FFAR2	2867	broad.mit.edu	37	chr19	35940898	35940898	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctacagcagcatctaCtgcagcacgtggctcctggc	7	9	11	14	1	2	0	0	0	2	0	3	0	3	0	1	3	6	6	1	3	2	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:35940898C>A	ENST00000599180.1	+	2	362	c.282C>A	c.(280-282)taC>taA	p.Y94*	FFAR2_ENST00000246549.2_Nonsense_Mutation_p.Y94*|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	94						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAGCATCTACTGCAGCACGT	0.607													15	19					6.72482e-11	8.11881e-11	1	0	A	35940898	C	A	35940898	4	1	43	1	0	0	0	0	0	1	0	0	5873	576	20	4	284	4	FFAR2	19	35940898	Nonsense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	949834	35940898	23188085	399	8298											
ZNF607	84775	broad.mit.edu	37	chr19	38189043	38189043	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagtatgaactctatgAtgtatactaagttcatggct	12	14	7	8	0	3	2	2	2	1	0	3	2	3	2	1	1	2	4	1	1	6	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:38189043A>G	ENST00000355202.4	-	5	2584	c.1989T>C	c.(1987-1989)caT>caC	p.H663H	ZNF607_ENST00000395835.3_Silent_p.H662H|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAACTCTATGATGTATACTAA	0.363													37	49					0	0	0	0	G	38189043	A	G	38189043	2	3	43	1	0	0	0	0	0	0	0	1	18128	330	12	5		5	ZNF607	19	38189043	Silent	SNP	A	TCGA-BB-7862-01A-21D-2229-08	2248145	38189043	20939940	400	8299											
CEACAM7	1087	broad.mit.edu	37	chr19	42181430	42181430	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacttgcttgtactgactcAtctgccatggaaagaaaaga	14	10	9	8	0	2	3	1	1	1	2	2	5	2	4	1	1	4	2	1	1	5	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:42181430A>T	ENST00000006724.3	-	4	909	c.706_splice	c.e4-1	p.Y236_splice	CEACAM7_ENST00000602225.1_Splice_Site_p.Y143_splice|CEACAM7_ENST00000338196.4_Splice_Site_p.Y143_splice|CEACAM7_ENST00000401731.1_Splice_Site_p.Y236_splice	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	236			Y -> H (in dbSNP:rs16975478).			anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GTACTGACTCATCTGCCATGG	0.473													26	13					0	0	0	0	T	42181430	A	T	42181430	5	4	43	1	0	0	0	0	0	0	1	0	3226	231	8	5	93	5	CEACAM7	19	42181430	Splice_Site	SNP	A	TCGA-BB-7862-01A-21D-2229-08	3992387	42181430	16947553	401	8300											
CEACAM8	1088	broad.mit.edu	37	chr19	43093044	43093044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgatgttggggataaagaGcttttgtgtgtattgctgga	9	15	15	2	0	0	2	0	1	0	1	0	4	0	4	0	3	2	4	0	3	3	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:43093044G>A	ENST00000244336.5	-	4	951	c.850C>T	c.(850-852)Ctc>Ttc	p.L284F	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	284	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GGGATAAAGAGCTTTTGTGTG	0.507													28	14					0	0	0	0	A	43093044	G	A	43093044	3	1	43	1	0	0	0	0	1	0	0	0	3227	971	34	4	207	4	CEACAM8	19	43093044	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	911614	43093044	16035939	402	8301											
MARK4	57787	broad.mit.edu	37	chr19	45790802	45790802	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaggccggaaggcgagCtgcagcaccgcggggagtgg	7	3	19	12	4	0	0	0	0	0	0	0	3	0	2	3	6	4	3	3	6	1	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:45790802C>T	ENST00000300843.4	+	13	1671	c.1374C>T	c.(1372-1374)agC>agT	p.S458S	MARK4_ENST00000262891.4_Silent_p.S458S	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	458					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGAAGGCGAGCTGCAGCACCG	0.716													10	4					0	0	0	0	T	45790802	C	T	45790802	2	4	43	1	0	0	0	0	0	0	0	1	9384	796	28	4		4	MARK4	19	45790802	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	2697758	45790802	13338181	403	8302											
ZNF841	284371	broad.mit.edu	37	chr19	52569824	52569824	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttgtgaattctgataaaaGaccttgccacatacatcaca	15	11	6	9	0	2	3	1	2	1	1	2	3	2	3	2	0	2	1	2	0	4	5	rs139155604	by1000genomes	TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:52569824G>C	ENST00000389534.4	-	7	1770	c.1311C>G	c.(1309-1311)gtC>gtG	p.V437V	ZNF841_ENST00000359973.2_Silent_p.V321V|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Silent_p.V437V|ZNF841_ENST00000426391.2_Silent_p.V321V	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TCTGATAAAAGACCTTGCCAC	0.388													6	4					0	0	0	0	C	52569824	G	C	52569824	2	2	43	1	0	0	0	0	0	0	0	1	18282	929	33	2		2	ZNF841	19	52569824	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	6779022	52569824	6559159	404	8303											
LILRB5	10990	broad.mit.edu	37	chr19	54760627	54760627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcccagagggtgggtttgGggagggtgcctagaatggaa	9	7	19	6	0	0	2	0	0	0	2	0	4	0	4	2	6	2	1	2	6	3	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:54760627G>T	ENST00000450632.1	-	3	157	c.80C>A	c.(79-81)cCc>cAc	p.P27H	LILRB5_ENST00000449561.2_Missense_Mutation_p.P27H|LILRB5_ENST00000345866.6_Missense_Mutation_p.P27H|LILRB5_ENST00000316219.5_Missense_Mutation_p.P27H			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	27	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTGGGTTTGGGGAGGGTGCC	0.622													23	19					1.22574e-08	1.39708e-08	1	0	T	54760627	G	T	54760627	3	4	43	1	0	0	0	0	1	0	0	0	8848	1232	43	4	1739	4	LILRB5	19	54760627	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2190803	54760627	4368356	405	8304											
KIR3DL2	3812	broad.mit.edu	37	chr19	55363640	55363640	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcatcatgggccctgtgacCccagcacatgcagggaccta	9	8	10	14	0	2	1	2	1	0	0	2	2	2	2	4	2	2	2	4	2	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:55363640C>A	ENST00000326321.3	+	3	291	c.258C>A	c.(256-258)acC>acA	p.T86T	KIR3DL2_ENST00000270442.5_Silent_p.T86T|KIR3DL1_ENST00000402254.2_Intron	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	86	Ig-like C2-type 1.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCCCTGTGACCCCAGCACATG	0.557													23	4					9.62906e-15	1.22678e-14	1	0	A	55363640	C	A	55363640	2	1	43	1	0	0	0	0	0	0	0	1	8373	610	22	4		4	KIR3DL2	19	55363640	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	603013	55363640	3765343	406	8305											
ZNF548	147694	broad.mit.edu	37	chr19	57910317	57910317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaccagaaaatccacacagGagaaaggtcttatgaatgta	17	7	9	8	0	1	3	0	1	1	2	2	4	2	3	2	2	0	2	2	2	6	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:57910317G>T	ENST00000366197.5	+	3	912	c.662G>T	c.(661-663)gGa>gTa	p.G221V	ZNF548_ENST00000336128.7_Missense_Mutation_p.G233V|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		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;0.026)		ATCCACACAGGAGAAAGGTCT	0.383													30	14					3.90053e-15	4.99343e-15	1	0	T	57910317	G	T	57910317	3	4	43	1	0	0	0	0	1	0	0	0	18075	1174	41	2	712	2	ZNF548	19	57910317	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2546677	57910317	1218666	407	8306											
PLCB4	5332	broad.mit.edu	37	chr20	9434014	9434014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacacagtaccatgcagaaGttacactgcacgcaagttga	15	7	9	10	1	0	2	0	1	0	1	0	3	0	2	1	0	5	6	1	0	5	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:9434014G>A	ENST00000378501.2	+	29	2880	c.2865G>A	c.(2863-2865)aaG>aaA	p.K955K	PLCB4_ENST00000378493.1_Silent_p.K955K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.K955K|PLCB4_ENST00000278655.4_Silent_p.K955K|PLCB4_ENST00000378473.3_Silent_p.K967K|PLCB4_ENST00000414679.2_Silent_p.K967K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	955					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCATGCAGAAGTTACACTGCA	0.428													17	35					0	0	0	0	A	9434014	G	A	9434014	2	1	43	1	0	0	0	0	0	0	0	1	12102	1020	36	4		4	PLCB4	20	9434014	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08		9434014	53591506	408	8307											
BANF2	140836	broad.mit.edu	37	chr20	17705719	17705719	+	Missense_Mutation	SNP	G	G	C																															ccttcctctccgaacccattGgagaaaaggatgtctgctgg																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:17705719G>C	ENST00000246090.5	+	3	311	c.49G>C	c.(49-51)Gga>Cga	p.G17R	BANF2_ENST00000377805.3_Missense_Mutation_p.G17R|BANF2_ENST00000545418.2_Missense_Mutation_p.G24R	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	17						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CGAACCCATTGGAGAAAAGGA	0.488													19	50					0	0	0	0	C	17705719	G	C	17705719	3	2	43	1	0	0	0	0	1	0	0	0	1312	1349	47	4	76	4	BANF2	20	17705719	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	8271705	17705719	45319801	409	8308	70	2									
BANF2	140836	broad.mit.edu	37	chr20	17705720	17705720	+	Missense_Mutation	SNP	G	G	T																															cttcctctccgaacccattgGagaaaaggatgtctgctggg																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:17705720G>T	ENST00000246090.5	+	3	312	c.50G>T	c.(49-51)gGa>gTa	p.G17V	BANF2_ENST00000377805.3_Missense_Mutation_p.G17V|BANF2_ENST00000545418.2_Missense_Mutation_p.G24V	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	17						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						GAACCCATTGGAGAAAAGGAT	0.488													19	49					8.34094e-07	9.22901e-07	1	0	T	17705720	G	T	17705720	3	4	43	1	0	0	0	0	1	0	0	0	1312	1174	41	2	77	2	BANF2	20	17705720	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1	17705720	45319800	410	8309	70	2									
MMP9	4318	broad.mit.edu	37	chr20	44641955	44641955	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaccgcagcccacggctccCccgacggtctgccccaccgg	6	3	10	22	5	1	0	0	0	1	0	2	1	2	0	7	3	2	2	7	3	0	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:44641955C>A	ENST00000372330.3	+	9	1411	c.1392C>A	c.(1390-1392)ccC>ccA	p.P464P		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	464					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCACGGCTCCCCCGACGGTCT	0.687											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	76					1.95508e-11	2.39305e-11	1	0	A	44641955	C	A	44641955	2	1	43	1	0	0	0	0	0	0	0	1	9739	610	22	4		4	MMP9	20	44641955	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	26936235	44641955	18383565	411	8310											
PREX1	57580	broad.mit.edu	37	chr20	47248859	47248859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttctccagggactgcgcGttgatgtcctgctgcaaatc	7	12	10	12	2	1	1	0	1	1	0	4	2	2	2	2	1	3	3	2	1	1	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:47248859G>T	ENST00000396220.1	-	34	4608	c.4586C>A	c.(4585-4587)aCg>aAg	p.T1529K	PREX1_ENST00000371941.3_Missense_Mutation_p.N1494K			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	0					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGGACTGCGCGTTGATGTCCT	0.637													72	130					2.34191e-24	3.30109e-24	1	0	T	47248859	G	T	47248859	3	4	43	1	0	0	0	0	1	0	0	0	12556	1136	40	3	521	3	PREX1	20	47248859	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2606904	47248859	15776661	412	8311											
TMEM189	387521	broad.mit.edu	37	chr20	48713232	48713232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggcccaattatcatccCtgtccatcttgtaagtgtca	9	13	8	11	0	3	0	2	0	1	0	5	1	5	1	3	2	0	1	3	2	3	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:48713232C>T	ENST00000557021.1	-	6	977	c.817G>A	c.(817-819)Ggg>Agg	p.G273R	UBE2V1_ENST00000371657.5_Missense_Mutation_p.G50R|UBE2V1_ENST00000371677.3_Missense_Mutation_p.G73R|UBE2V1_ENST00000420027.2_Intron|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.G273R|UBE2V1_ENST00000340309.3_Missense_Mutation_p.G73R|UBE2V1_ENST00000371674.3_Missense_Mutation_p.G50R|UBE2V1_ENST00000415862.2_Intron|UBE2V1_ENST00000396059.3_Intron	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			ATTATCATCCCTGTCCATCTT	0.433													63	77					0	0	0	0	T	48713232	C	T	48713232	3	4	43	1	0	0	0	0	1	0	0	0	16205	681	24	4		4	TMEM189	20	48713232	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1464373	48713232	14312288	413	8312											
ATP9A	10079	broad.mit.edu	37	chr20	50346510	50346510	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcagcatctcagccactCgcagcacctgtgggaaagaa	12	5	10	14	2	1	1	1	0	1	1	3	2	1	2	3	1	3	4	3	1	2	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:50346510C>A	ENST00000338821.5	-	2	340	c.76G>T	c.(76-78)Gag>Tag	p.E26*	ATP9A_ENST00000402822.1_Nonsense_Mutation_p.E26*|ATP9A_ENST00000311637.5_Nonsense_Mutation_p.E11*|ATP9A_ENST00000477492.1_5'UTR	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	26					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTCAGCCACTCGCAGCACCTG	0.602													37	66					2.32173e-10	2.7777e-10	1	0	A	50346510	C	A	50346510	4	1	43	1	0	0	0	0	0	1	0	0	1202	893	31	3	3175	3	ATP9A	20	50346510	Nonsense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1633278	50346510	12679010	414	8313											
SALL4	57167	broad.mit.edu	37	chr20	50407493	50407493	+	Missense_Mutation	SNP	C	C	A																															cctcactttctggagaaggcCcaggctgcaggtcaccgggc																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:50407493C>A	ENST00000217086.4	-	2	1640	c.1529G>T	c.(1528-1530)gGg>gTg	p.G510V	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	510					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGAGAAGGCCCAGGCTGCAG	0.592													39	78					3.54909e-21	4.91127e-21	1	0	A	50407493	C	A	50407493	3	1	43	1	0	0	0	0	1	0	0	0	13898	623	22	4	1644	4	SALL4	20	50407493	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	60983	50407493	12618027	415	8314	71	2									
SALL4	57167	broad.mit.edu	37	chr20	50407494	50407494	+	Missense_Mutation	SNP	C	C	T																															ctcactttctggagaaggccCaggctgcaggtcaccgggca																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:50407494C>T	ENST00000217086.4	-	2	1639	c.1528G>A	c.(1528-1530)Ggg>Agg	p.G510R	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	510					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAGAAGGCCCAGGCTGCAGG	0.587													38	79					0	0	0	0	T	50407494	C	T	50407494	3	4	43	1	0	0	0	0	1	0	0	0	13898	594	21	4	1645	4	SALL4	20	50407494	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1	50407494	12618026	416	8315	71	2									
OGFR	11054	broad.mit.edu	37	chr20	61438939	61438939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccacgagggacatgtgtagGtatcggcacaactatccggt	10	8	13	10	3	0	0	0	0	0	0	2	2	1	1	2	4	1	3	2	4	4	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:61438939G>T	ENST00000290291.6	+	2	247	c.222G>T	c.(220-222)agG>agT	p.R74S	OGFR_ENST00000370461.1_5'UTR|OGFR_ENST00000370468.3_Missense_Mutation_p.R74S	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	74				DAGDEDEESEEPRAARPSSFQSRMTGSRNWRATRDMCRYRH NYP -> GARRALGVLGQPGGLQMRLPERHGGPQGSLCLMD PCCPLSLALQ (in Ref. 5).	regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					ACATGTGTAGGTATCGGCACA	0.582													4	7					0.0215528	0.0220947	1	0	T	61438939	G	T	61438939	3	4	43	1	0	0	0	0	1	0	0	0	10914	1252	44	4	228	4	OGFR	20	61438939	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	11031445	61438939	1586581	417	8316											
DIDO1	11083	broad.mit.edu	37	chr20	61528097	61528097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctgcaggtgccggtccggCctgcctggcagctgaagcac	5	6	15	15	3	0	1	0	1	0	0	1	1	1	1	4	4	5	5	4	4	1	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:61528097C>T	ENST00000266070.4	-	7	2165	c.1840G>A	c.(1840-1842)Gcc>Acc	p.A614T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A614T|DIDO1_ENST00000395335.2_Missense_Mutation_p.A614T|DIDO1_ENST00000395340.1_Missense_Mutation_p.A614T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	614					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCGGTCCGGCCTGCCTGGCA	0.617													47	61					0	0	0	0	T	61528097	C	T	61528097	3	4	43	1	0	0	0	0	1	0	0	0	4559	739	26	4	4951	4	DIDO1	20	61528097	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	89158	61528097	1497423	418	8317											
HSPA13	6782	broad.mit.edu	37	chr21	15753648	15753648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagctctacgctttcatatCccacatatacatcattgtca	11	13	3	14	1	4	0	3	0	1	0	5	0	5	0	2	0	3	2	2	0	4	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr21:15753648C>A	ENST00000285667.3	-	2	309	c.242G>T	c.(241-243)gGa>gTa	p.G81V	HSPA13_ENST00000544452.1_5'UTR|HSPA13_ENST00000478035.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	81						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCTTTCATATCCCACATATAC	0.398													38	8					3.93418e-24	5.53081e-24	1	0	A	15753648	C	A	15753648	3	1	43	1	0	0	0	0	1	0	0	0	7458	855	30	2	1189	2	HSPA13	21	15753648	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08		15753648	32376247	419	8318											
COL18A1	80781	broad.mit.edu	37	chr21	46912604	46912604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccctctttccccagggcCggccgggtttcgcaggcttt	2	11	12	16	4	1	0	0	0	1	0	4	0	3	0	5	4	0	3	5	4	0	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr21:46912604C>G	ENST00000359759.4	+	23	3457	c.3436C>G	c.(3436-3438)Cgg>Ggg	p.R1146G	COL18A1_ENST00000355480.5_Missense_Mutation_p.R911G|COL18A1_ENST00000400337.2_Missense_Mutation_p.R731G			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1146	Triple-helical region 5 (COL5).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCCCAGGGCCGGCCGGGTTT	0.701													42	24					0	0	0	0	G	46912604	C	G	46912604	3	3	43	1	0	0	0	0	1	0	0	0	3705	643	23	3	3640	3	COL18A1	21	46912604	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	31158956	46912604	1217291	420	8319											
P2RX6	9127	broad.mit.edu	37	chr22	21372348	21372348	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcagggcagatgcccagAggtgagtttacccaggatcc	10	8	13	10	0	1	3	1	1	0	2	2	4	2	4	3	3	2	3	3	3	1	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr22:21372348A>T	ENST00000413302.2	+	3	534	c.387_splice	c.e3+1	p.E129_splice	P2RX6_ENST00000401443.1_Splice_Site_p.E103_splice|P2RX6_ENST00000443995.3_Splice_Site_p.E76_splice|P2RX6_ENST00000402329.3_Intron|P2RX6_ENST00000336296.2_Splice_Site_p.E119_splice			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	129					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										AGATGCCCAGAGGTGAGTTTA	0.602													8	13					0	0	0	0	T	21372348	A	T	21372348	5	4	43	1	0	0	0	0	0	0	1	0	11415	318	11	5	396	5	P2RX6	22	21372348	Splice_Site	SNP	A	TCGA-BB-7862-01A-21D-2229-08		21372348	29932218	421	8320											
CCDC116	164592	broad.mit.edu	37	chr22	21991274	21991274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatggacaatgagggccGtgataaagccgagattgaag	14	6	15	6	2	0	4	0	3	0	1	0	7	0	6	2	3	1	0	2	3	4	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr22:21991274G>A	ENST00000292779.3	+	5	1918	c.1757G>A	c.(1756-1758)cGt>cAt	p.R586H		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					AATGAGGGCCGTGATAAAGCC	0.552													33	45					0	0	0	0	A	21991274	G	A	21991274	3	1	43	1	0	0	0	0	1	0	0	0	2778	1145	40	1	1771	1	CCDC116	22	21991274	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	618926	21991274	29313292	422	8321											
DEPDC5	9681	broad.mit.edu	37	chr22	32241081	32241081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgccaccaagcgcatcaCggagggggaggcccactgcg	9	2	14	16	4	1	0	1	0	0	0	1	2	1	2	4	4	2	1	4	4	1	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr22:32241081C>T	ENST00000400246.1	+	30	3021	c.2879C>T	c.(2878-2880)aCg>aTg	p.T960M	DEPDC5_ENST00000382105.2_Missense_Mutation_p.T882M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.T960M|DEPDC5_ENST00000382112.3_Missense_Mutation_p.T951M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.T960M|DEPDC5_ENST00000535622.1_Missense_Mutation_p.T882M|DEPDC5_ENST00000400248.1_Missense_Mutation_p.T951M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.T951M			O75140	DEPD5_HUMAN	DEP domain containing 5	951					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAGCGCATCACGGAGGGGGAG	0.602													27	51					0	0	0	0	T	32241081	C	T	32241081	3	4	43	1	0	0	0	0	1	0	0	0	4479	536	19	1	2984	1	DEPDC5	22	32241081	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	10249807	32241081	19063485	423	8322											
PNPLA4	8228	broad.mit.edu	37	chrX	7870155	7870155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgggcaggatgggaagagCgttggtgaggcctccgtcca	8	6	18	9	3	0	2	0	1	0	1	2	5	2	4	3	5	1	2	3	5	1	1			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:7870155C>A	ENST00000381042.4	-	6	675	c.505G>T	c.(505-507)Gct>Tct	p.A169S	PNPLA4_ENST00000537427.1_Missense_Mutation_p.A82S|PNPLA4_ENST00000444736.1_Missense_Mutation_p.A169S	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	169	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				ATGGGAAGAGCGTTGGTGAGG	0.537													22	4					7.41877e-09	8.49233e-09	1	0	A	7870155	C	A	7870155	3	1	43	1	0	0	0	0	1	0	0	0	12239	768	27	3	264	3	PNPLA4	23	7870155	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08		7870155	147400405	424	8323											
EGFL6	25975	broad.mit.edu	37	chrX	13612977	13612977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgcgaacctggatgtaaGtttggtgagtgcgtgggacc	9	10	15	7	2	0	1	0	1	0	0	0	4	0	3	2	3	3	2	2	3	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:13612977G>T	ENST00000361306.1	+	3	467	c.210G>T	c.(208-210)aaG>aaT	p.K70N	EGFL6_ENST00000380602.3_Missense_Mutation_p.K70N	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	70	EGF-like 1.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CTGGATGTAAGTTTGGTGAGT	0.458													25	8					3.6726e-16	4.75912e-16	1	0	T	13612977	G	T	13612977	3	4	43	1	0	0	0	0	1	0	0	0	4999	1020	36	4	220	4	EGFL6	23	13612977	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	5742822	13612977	141657583	425	8324											
KLHL34	257240	broad.mit.edu	37	chrX	21675294	21675294	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagttgtgggctcctgccGcaaccaagctaacgccaggc	8	7	11	15	2	1	0	1	0	0	0	2	0	2	0	4	2	4	4	4	2	3	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:21675294G>C	ENST00000379499.2	-	1	1154	c.613C>G	c.(613-615)Cgg>Ggg	p.R205G		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	205	BACK.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GGCTCCTGCCGCAACCAAGCT	0.672													13	1					0	0	0	0	C	21675294	G	C	21675294	3	2	43	1	0	0	0	0	1	0	0	0	8439	1086	38	3	1325	3	KLHL34	23	21675294	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	8062317	21675294	133595266	426	8325											
MAGEB6	158809	broad.mit.edu	37	chrX	26212046	26212046	+	Missense_Mutation	SNP	C	C	A																															gccacagggtctcacgggtcCccaggccactgcagagaagc																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:26212046C>A	ENST00000379034.1	+	2	232	c.83C>A	c.(82-84)cCc>cAc	p.P28H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	28										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTCACGGGTCCCCAGGCCACT	0.567													28	12					1.5548e-18	2.09148e-18	1	0	A	26212046	C	A	26212046	3	1	43	1	0	0	0	0	1	0	0	0	9248	623	22	4	85	4	MAGEB6	23	26212046	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	4536752	26212046	129058514	427	8326	72	2									
MAGEB6	158809	broad.mit.edu	37	chrX	26212047	26212047	+	Silent	SNP	C	C	T																															ccacagggtctcacgggtccCcaggccactgcagagaagca																										TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:26212047C>T	ENST00000379034.1	+	2	233	c.84C>T	c.(82-84)ccC>ccT	p.P28P		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	28										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCACGGGTCCCCAGGCCACTG	0.572													29	11					0	0	0	0	T	26212047	C	T	26212047	2	4	43	1	0	0	0	0	0	0	0	1	9248	610	22	4		4	MAGEB6	23	26212047	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	1	26212047	129058513	428	8327	72	2									
FAM47C	442444	broad.mit.edu	37	chrX	37028613	37028613	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagagcctcccaagactcgGgtgtccagtctccacgcgga	8	6	11	16	3	1	2	0	0	1	2	5	3	3	3	5	2	1	0	5	2	1	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:37028613G>C	ENST00000358047.3	+	1	2182	c.2130G>C	c.(2128-2130)cgG>cgC	p.R710R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	710										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACTCGGGTGTCCAGTC	0.637													56	9					0	0	0	0	C	37028613	G	C	37028613	2	2	43	1	0	0	0	0	0	0	0	1	5618	1219	43	4		4	FAM47C	23	37028613	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	10816566	37028613	118241947	429	8328											
MAGED1	9500	broad.mit.edu	37	chrX	51638387	51638419	+	In_Frame_Del	DEL	CTCAGGCTCATAATGCCAAGGATGTGCCCAACA	CTCAGGCTCATAATGCCAAGGATGTGCCCAACA	-																															aaatggtgtctatgatttctCtcaggctcataatgccaagg																								rs141080853		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:51638387_51638419delCTCAGGCTCATAATGCCAAGGATGTGCCCAACA	ENST00000375695.2	+	4	605_637	c.452_484delCTCAGGCTCATAATGCCAAGGATGTGCCCAACA	c.(451-486)tcg>t	p.SQAHNAKDVPNT151del	MAGED1_ENST00000375772.3_In_Frame_Del_p.SQAHNAKDVPNT95del|MAGED1_ENST00000375722.1_In_Frame_Del_p.SQAHNAKDVPNT95del|MAGED1_ENST00000326587.7_In_Frame_Del_p.SQAHNAKDVPNT95del|MAGED1_ENST00000494718.1_3'UTR	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	95					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TATGATTTCTCTCAGGCTCATAATGCCAAGGATGTGCCCAACACGCAGCCCAA	0.506										Multiple Myeloma(10;0.10)			4	5	---	---	---	---					-	51638419	CTCAGGCTCATAATGCCAAGGATGTGCCCAACA	-	51638387	7	5	43	1	0	1	0	1	0	0	0	0	9252	913	32	0	462	0	MAGED1	23	51638387	In_Frame_Del	DEL	CTCAGGCTCATAATGCCAAGGATGTGCCCAACA	TCGA-BB-7862-01A-21D-2229-08	14609774	51638387	103632173	430	8329											
FGD1	2245	broad.mit.edu	37	chrX	54475346	54475346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgcacacacggttggagcGgttgttgtcatagacgaggc	9	9	15	8	3	1	1	1	0	0	1	1	3	1	2	0	4	2	4	0	4	1	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:54475346G>A	ENST00000375135.3	-	16	3062	c.2329C>T	c.(2329-2331)Cgc>Tgc	p.R777C		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	777					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGGTTGGAGCGGTTGTTGTCA	0.622													18	3					0	0	0	0	A	54475346	G	A	54475346	3	1	43	1	0	0	0	0	1	0	0	0	5877	1116	39	1	568	1	FGD1	23	54475346	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	2836959	54475346	100795214	431	8330											
FOXR2	139628	broad.mit.edu	37	chrX	55650163	55650163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggacttaaaactaaaaGactgtgaattttggtatagt	16	13	9	3	0	0	3	0	1	0	2	0	4	0	4	0	2	1	1	0	2	7	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:55650163G>T	ENST00000339140.3	+	1	331	c.19G>T	c.(19-21)Gac>Tac	p.D7Y		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	7					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAAACTAAAAGACTGTGAATT	0.458													21	7					1.85244e-09	2.16254e-09	1	0	T	55650163	G	T	55650163	3	4	43	1	0	0	0	0	1	0	0	0	6079	942	33	2	21	2	FOXR2	23	55650163	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1174817	55650163	99620397	432	8331											
AR	367	broad.mit.edu	37	chrX	66905881	66905881	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtacctgtgcgccagcagaAatgattgcactattgataaa	14	10	9	8	1	0	3	0	2	0	1	0	3	0	3	2	0	4	3	2	0	5	5			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:66905881A>T	ENST00000374690.3	+	3	2322	c.1798A>T	c.(1798-1800)Aat>Tat	p.N600Y	AR_ENST00000504326.1_Missense_Mutation_p.N600Y|AR_ENST00000396043.2_Missense_Mutation_p.N68Y|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.N600Y	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	599	Interaction with HIPK3 (By similarity).				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CGCCAGCAGAAATGATTGCAC	0.408									Androgen Insensitivity Syndrome				22	7					0	0	0	0	T	66905881	A	T	66905881	3	4	43	1	0	0	0	0	1	0	0	0	838	14	1	5	1832	5	AR	23	66905881	Missense_Mutation	SNP	A	TCGA-BB-7862-01A-21D-2229-08	11255718	66905881	88364679	433	8332											
EDA	1896	broad.mit.edu	37	chrX	68836326	68836326	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctccacctgctgacgttGtgctgctacctagagttgcg	5	11	11	14	2	0	2	0	1	0	1	1	2	1	2	4	0	5	5	4	0	2	4	rs41539891		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:68836326G>C	ENST00000374552.4	+	1	416	c.174G>C	c.(172-174)ttG>ttC	p.L58F	EDA_ENST00000527388.1_Missense_Mutation_p.L58F|EDA_ENST00000525810.1_Missense_Mutation_p.L58F|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000524573.1_Missense_Mutation_p.L58F|EDA_ENST00000374553.2_Missense_Mutation_p.L58F|EDA_ENST00000338901.3_Missense_Mutation_p.L58F	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	58					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						TGCTGACGTTGTGCTGCTACC	0.692													23	11					0	0	0	0	C	68836326	G	C	68836326	3	2	43	1	0	0	0	0	1	0	0	0	4939	1368	48	4	176	4	EDA	23	68836326	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1930445	68836326	86434234	434	8333											
KIAA2022	340533	broad.mit.edu	37	chrX	73962430	73962430	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctgatcattacataaTgaaatctgtttactacttgc	11	16	5	9	0	3	2	1	2	2	0	3	2	3	2	1	0	5	1	1	0	5	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:73962430T>C	ENST00000373468.1	-	3	2613	c.1962A>G	c.(1960-1962)tcA>tcG	p.S654S	KIAA2022_ENST00000055682.5_Silent_p.S654S			Q5QGS0	K2022_HUMAN	KIAA2022	654					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CATTACATAATGAAATCTGTT	0.428													8	2					0	0	0	0	C	73962430	T	C	73962430	2	2	43	1	0	0	0	0	0	0	0	1	8320	1451	51	5		5	KIAA2022	23	73962430	Silent	SNP	T	TCGA-BB-7862-01A-21D-2229-08	5126104	73962430	81308130	435	8334											
ABCB7	22	broad.mit.edu	37	chrX	74289143	74289143	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccctgacccactacctccTacaatggccactttctttcc	8	11	3	19	0	1	1	0	1	1	0	3	1	3	1	6	1	2	0	6	1	3	4			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:74289143T>A	ENST00000253577.3	-	11	1539	c.1515A>T	c.(1513-1515)gtA>gtT	p.V505V	ABCB7_ENST00000373394.3_Silent_p.V504V|ABCB7_ENST00000339447.4_Silent_p.V464V|ABCB7_ENST00000534570.1_5'UTR	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	504	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CACTACCTCCTACAATGGCCA	0.378													41	10					0	0	0	0	A	74289143	T	A	74289143	2	1	43	1	0	0	0	0	0	0	0	1	46	1509	53	5		5	ABCB7	23	74289143	Silent	SNP	T	TCGA-BB-7862-01A-21D-2229-08	326713	74289143	80981417	436	8335											
KLHL4	56062	broad.mit.edu	37	chrX	86919784	86919784	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgatccaaaaggtgattCatggtcaactgtggcacctc	11	11	10	9	0	2	2	2	2	0	0	4	2	3	2	2	3	1	2	2	3	4	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:86919784C>A	ENST00000373119.4	+	10	2091	c.1946C>A	c.(1945-1947)tCa>tAa	p.S649*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.S649*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	649						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AAAGGTGATTCATGGTCAACT	0.408													16	4					1.15088e-07	1.29504e-07	1	0	A	86919784	C	A	86919784	4	1	43	1	0	0	0	0	0	1	0	0	8443	838	29	2	1984	2	KLHL4	23	86919784	Nonsense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	12630641	86919784	68350776	437	8336											
PABPC5	140886	broad.mit.edu	37	chrX	90690749	90690749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatccggtgacccgcagccCcctgggctatgggtatgtta	6	10	13	12	2	0	2	0	2	0	0	1	2	1	2	4	3	1	4	4	3	3	3			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:90690749C>T	ENST00000312600.3	+	2	387	c.173C>T	c.(172-174)cCc>cTc	p.P58L	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	58	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						ACCCGCAGCCCCCTGGGCTAT	0.532													12	2					0	0	0	0	T	90690749	C	T	90690749	3	4	43	1	0	0	0	0	1	0	0	0	11438	623	22	4	175	4	PABPC5	23	90690749	Missense_Mutation	SNP	C	TCGA-BB-7862-01A-21D-2229-08	3770965	90690749	64579811	438	8337											
GUCY2F	2986	broad.mit.edu	37	chrX	108696910	108696910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccaggattacatattctGaaattccatttccatttgaa	12	16	5	8	0	1	2	0	2	1	0	4	3	4	3	3	1	1	0	3	1	4	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:108696910G>A	ENST00000218006.2	-	4	1502	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	404					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TACATATTCTGAAATTCCATT	0.478													82	8					0	0	0	0	A	108696910	G	A	108696910	3	1	43	1	0	0	0	0	1	0	0	0	6948	1294	45	2	2179	2	GUCY2F	23	108696910	Missense_Mutation	SNP	G	TCGA-BB-7862-01A-21D-2229-08	18006161	108696910	46573650	439	8338											
ZIC3	7547	broad.mit.edu	37	chrX	136649543	136649543	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatgggagtgaacgtggcGgcccaccacgggcccggcgc	8	3	16	14	5	0	1	0	1	0	0	0	2	0	2	3	5	2	0	3	5	2	0			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:136649543G>T	ENST00000287538.5	+	1	1243	c.693G>T	c.(691-693)gcG>gcT	p.A231A	ZIC3_ENST00000370606.3_Silent_p.A231A	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	231					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					TGAACGTGGCGGCCCACCACG	0.647													16	9					3.45872e-05	3.74871e-05	1	0	T	136649543	G	T	136649543	2	4	43	1	0	0	0	0	0	0	0	1	17775	1103	39	3		3	ZIC3	23	136649543	Silent	SNP	G	TCGA-BB-7862-01A-21D-2229-08	27952633	136649543	18621017	440	8339											
F9	2158	broad.mit.edu	37	chrX	138643014	138643014	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaattacagttgtcgcaGgtaaatacacagaaagaata	19	10	7	5	1	0	2	0	0	0	2	1	2	0	2	0	1	2	3	0	1	9	6			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:138643014G>T	ENST00000218099.2	+	7	845	c.838_splice	c.e7+1	p.G280_splice	F9_ENST00000394090.2_Splice_Site_p.G242_splice	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	280	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AGTTGTCGCAGGTAAATACAC	0.343													32	9					1.61788e-16	2.11722e-16	1	0	T	138643014	G	T	138643014	5	4	43	1	0	0	0	0	0	0	1	0	5392	1014	35	4	864	4	F9	23	138643014	Splice_Site	SNP	G	TCGA-BB-7862-01A-21D-2229-08	1993471	138643014	16627546	441	8340											
PRRG3	79057	broad.mit.edu	37	chrX	150869334	150869334	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccggctagagagcaccctCtacctccctgagctctctct	6	10	8	17	1	3	2	0	1	3	1	6	3	5	2	4	1	3	3	4	1	2	2			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:150869334C>A	ENST00000370353.3	+	4	915	c.525C>A	c.(523-525)ctC>ctA	p.L175L	PRRG3_ENST00000538575.1_Silent_p.L175L			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	175						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCACCCTCTACCTCCCTG	0.672													26	6					2.41591e-17	3.1931e-17	1	0	A	150869334	C	A	150869334	2	1	43	1	0	0	0	0	0	0	0	1	12686	900	32	2		2	PRRG3	23	150869334	Silent	SNP	C	TCGA-BB-7862-01A-21D-2229-08	12226320	150869334	4401226	442	8341											
CLCN6	1185	broad.mit.edu	37	chr1	11883823	11883823	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctgaatggcgtaaaggtGccaggaatcgtccgtctccg	9	10	12	10	4	2	1	0	1	2	0	5	2	3	2	3	3	1	1	3	3	5	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr1:11883823G>A	ENST00000346436.6	+	7	565	c.513G>A	c.(511-513)gtG>gtA	p.V171V	CLCN6_ENST00000312413.6_Silent_p.V171V|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Silent_p.V171V|CLCN6_ENST00000376487.3_Silent_p.V149V	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	171					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCGTAAAGGTGCCAGGAATCG	0.542													18	40					0	0	0	0	A	11883823	G	A	11883823	2	1	44	1	0	0	0	0	0	0	0	1	3497	1306	46	4		4	CLCN6	1	11883823	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08		11883823	237366798	1	8342											
CDC42	998	broad.mit.edu	37	chr1	22416488	22416488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagctgccctcgagcctcCggaaactcaacccaaaagga	12	5	8	16	2	1	0	1	0	0	0	3	3	2	2	5	2	5	1	5	2	5	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr1:22416488C>T	ENST00000315554.8	+	6	643	c.539C>T	c.(538-540)cCg>cTg	p.P180L	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000344548.3_Intron|CDC42_ENST00000400259.1_Intron|CDC42_ENST00000421089.2_Intron	NM_044472.2	NP_426359.1	P60953	CDC42_HUMAN	cell division cycle 42	180					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		CTCGAGCCTCCGGAAACTCAA	0.468													6	28					0	0	0	0	T	22416488	C	T	22416488	3	4	44	1	0	0	0	0	1	0	0	0	3100	652	23	1	557	1	CDC42	1	22416488	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	10532665	22416488	226834133	2	8343											
FNDC5	252995	broad.mit.edu	37	chr1	33333957	33333957	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtggtggtgttcacctcCtggatgaagcgcagcatccg	6	9	15	11	3	1	1	1	1	0	0	3	2	3	2	3	4	2	3	3	4	1	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr1:33333957C>T	ENST00000373471.3	-	3	309	c.18G>A	c.(16-18)caG>caA	p.Q6Q		NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	65						integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGTTCACCTCCTGGATGAAGC	0.617													10	44					0	0	0	0	T	33333957	C	T	33333957	2	4	44	1	0	0	0	0	0	0	0	1	6017	680	24	4		4	FNDC5	1	33333957	Silent	SNP	C	TCGA-BB-7863-01A-11D-2229-08	10917469	33333957	215916664	3	8344											
PKN2	5586	broad.mit.edu	37	chr1	89287686	89287686	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacacaaaattgtttataGgtaagttaatttttaatttt	15	19	5	2	0	0	1	0	1	0	0	0	1	0	1	0	1	1	3	0	1	8	11			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr1:89287686G>A	ENST00000370521.3	+	17	2701	c.2342_splice	c.e17+1	p.R781_splice	PKN2_ENST00000370513.5_Splice_Site_p.R733_splice|PKN2_ENST00000544045.1_Splice_Site_p.R455_splice|PKN2_ENST00000370505.3_Splice_Site_p.R624_splice	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	781	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ATTGTTTATAGGTAAGTTAAT	0.249													5	5					0	0	0	0	A	89287686	G	A	89287686	5	1	44	1	0	0	0	0	0	0	1	0	12052	1014	35	4	2408	4	PKN2	1	89287686	Splice_Site	SNP	G	TCGA-BB-7863-01A-11D-2229-08	55953729	89287686	159962935	4	8345											
HFE2	148738	broad.mit.edu	37	chr1	145415835	145415835	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccaacgctaccgccacccgGaaggtcaggcactcaatctt	10	6	9	16	3	3	0	2	0	1	0	3	1	3	1	4	3	2	2	4	3	4	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr1:145415835G>A	ENST00000336751.5	+	3	892	c.654G>A	c.(652-654)cgG>cgA	p.R218R	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_Silent_p.R105R	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	218					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCGCCACCCGGAAGGTCAGGC	0.567													20	103					0	0	0	0	A	145415835	G	A	145415835	2	1	44	1	0	0	0	0	0	0	0	1	7132	1161	41	2		2	HFE2	1	145415835	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08	56128149	145415835	103834786	5	8346											
SLC41A1	254428	broad.mit.edu	37	chr1	205779517	205779517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagcagggagaggcagaaGggccagtcccgttcagttgg	11	5	17	8	1	1	3	1	0	0	3	2	4	2	3	2	4	1	4	2	4	2	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr1:205779517G>A	ENST00000367137.3	-	2	1067	c.53C>T	c.(52-54)cCt>cTt	p.P18L		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	18						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGAGGCAGAAGGGCCAGTCCC	0.597											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	63					0	0	0	0	A	205779517	G	A	205779517	3	1	44	1	0	0	0	0	1	0	0	0	14717	1000	35	4	1528	4	SLC41A1	1	205779517	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	60363682	205779517	43471104	6	8347											
TMEM206	55248	broad.mit.edu	37	chr1	212583849	212583849	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttctcaaccacctggacCaactcctcactcagctaaag	12	8	6	15	0	3	0	3	0	1	0	5	2	4	1	4	1	3	2	4	1	4	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr1:212583849C>T	ENST00000261455.4	-	2	188	c.51G>A	c.(49-51)ttG>ttA	p.L17L	TMEM206_ENST00000535273.1_Silent_p.L78L|TMEM206_ENST00000471937.1_5'UTR	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	17						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CCACCTGGACCAACTCCTCAC	0.502													62	201					0	0	0	0	T	212583849	C	T	212583849	2	4	44	1	0	0	0	0	0	0	0	1	16225	593	21	4		4	TMEM206	1	212583849	Silent	SNP	C	TCGA-BB-7863-01A-11D-2229-08	6804332	212583849	36666772	7	8348											
AGBL5	60509	broad.mit.edu	37	chr2	27278028	27278028	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggacttcatcctccgacCtgatgatccccgggcccaaa	8	9	8	16	2	2	2	1	2	1	0	5	4	5	3	6	2	0	0	6	2	1	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr2:27278028C>A	ENST00000360131.4	+	6	974	c.815C>A	c.(814-816)cCt>cAt	p.P272H	AGBL5_ENST00000323064.8_Missense_Mutation_p.P272H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	272					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCTCCGACCTGATGATCCC	0.527													23	106					6.21321e-17	6.77342e-17	1	0	A	27278028	C	A	27278028	3	1	44	1	0	0	0	0	1	0	0	0	378	681	24	4	833	4	AGBL5	2	27278028	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08		27278028	215921345	8	8349											
CNTNAP5	129684	broad.mit.edu	37	chr2	125192141	125192141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagtactctcaaagatGtgatctccctgaagttcaag	12	12	9	8	0	3	5	2	4	2	1	5	5	3	5	1	0	1	2	1	0	4	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr2:125192141G>A	ENST00000431078.1	+	5	974	c.610G>A	c.(610-612)Gtg>Atg	p.V204M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	204	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTCAAAGATGTGATCTCCCT	0.493													17	41					0	0	0	0	A	125192141	G	A	125192141	3	1	44	1	0	0	0	0	1	0	0	0	3680	1377	48	4	628	4	CNTNAP5	2	125192141	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	97914113	125192141	118007232	9	8350											
CYP27A1	1593	broad.mit.edu	37	chr2	219679314	219679314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgtcccgggaccccactgCcttctctgagcctgaaagct	6	9	11	15	1	1	2	0	2	1	0	3	3	2	3	5	2	3	1	5	2	1	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr2:219679314C>T	ENST00000258415.4	+	8	1737	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	437					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GACCCCACTGCCTTCTCTGAG	0.582													14	47					0	0	0	0	T	219679314	C	T	219679314	3	4	44	1	0	0	0	0	1	0	0	0	4190	739	26	4	1340	4	CYP27A1	2	219679314	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	94487173	219679314	23520059	10	8351											
PER2	8864	broad.mit.edu	37	chr2	239186554	239186554	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggttactggggctgggCggaaattccgcgtatccatt	6	11	16	8	3	0	0	0	0	0	0	2	1	2	1	2	6	1	3	2	6	3	4			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr2:239186554C>A	ENST00000254657.3	-	2	303	c.24G>T	c.(22-24)ccG>ccT	p.P8P	PER2_ENST00000440245.1_Silent_p.P8P|PER2_ENST00000355768.2_Silent_p.P8P|PER2_ENST00000254658.3_Silent_p.P8P	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	8					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGGGCTGGGCGGAAATTCCG	0.602													7	14					2.17888e-05	2.22916e-05	1	0	A	239186554	C	A	239186554	2	1	44	1	0	0	0	0	0	0	0	1	11801	755	27	3		3	PER2	2	239186554	Silent	SNP	C	TCGA-BB-7863-01A-11D-2229-08	19507240	239186554	4012819	11	8352											
METTL6	131965	broad.mit.edu	37	chr3	15466554	15466554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggaataaacagtttccaaCcccacagccagcttcaagca	14	7	7	13	0	1	0	1	0	0	0	2	1	2	1	4	1	5	3	4	1	5	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr3:15466554C>T	ENST00000443029.1	-	3	508	c.268G>A	c.(268-270)Gtt>Att	p.V90I	METTL6_ENST00000383790.3_Missense_Mutation_p.V90I|METTL6_ENST00000383789.5_Missense_Mutation_p.V90I|METTL6_ENST00000450816.2_Intron			Q8TCB7	METL6_HUMAN	methyltransferase like 6	90							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						CAGTTTCCAACCCCACAGCCA	0.373													13	46					0	0	0	0	T	15466554	C	T	15466554	3	4	44	1	0	0	0	0	1	0	0	0	9573	507	18	4	602	4	METTL6	3	15466554	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08		15466554	182555876	12	8353											
GOLGB1	2804	broad.mit.edu	37	chr3	121416590	121416590	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatttcaaccccaagagaaAacttctcttcattaagctga	15	12	4	10	0	3	2	2	1	1	1	4	3	3	2	2	0	3	1	2	0	6	5			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr3:121416590A>G	ENST00000393667.3	-	13	2890	c.2780T>C	c.(2779-2781)tTt>tCt	p.F927S	GOLGB1_ENST00000340645.5_Missense_Mutation_p.F922S	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	922					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCCAAGAGAAAACTTCTCTTC	0.378													16	81					0	0	0	0	G	121416590	A	G	121416590	3	3	44	1	0	0	0	0	1	0	0	0	6613	14	1	5	7054	5	GOLGB1	3	121416590	Missense_Mutation	SNP	A	TCGA-BB-7863-01A-11D-2229-08	105950036	121416590	76605840	13	8354											
SEMA5B	54437	broad.mit.edu	37	chr3	122634457	122634457	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgaagcccccatcccgtgtCacattccgcacctgaagaca	10	6	7	18	3	1	2	1	1	0	1	3	3	3	2	6	0	1	1	6	0	2	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr3:122634457C>T	ENST00000195173.4	-	14	2121	c.1818G>A	c.(1816-1818)gtG>gtA	p.V606V	SEMA5B_ENST00000357599.3_Silent_p.V606V|SEMA5B_ENST00000451055.2_Silent_p.V660V			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	606					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CATCCCGTGTCACATTCCGCA	0.557													6	28					0	0	0	0	T	122634457	C	T	122634457	2	4	44	1	0	0	0	0	0	0	0	1	14125	813	29	2		2	SEMA5B	3	122634457	Silent	SNP	C	TCGA-BB-7863-01A-11D-2229-08	1217867	122634457	75387973	14	8355											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	10	18	8	5	1	0	0	0	0	0	0	1	0	0	0	1	2	2	4	1	2	6	9			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.352_splice	c.e3-1	p.G118_splice		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	23					0	0	0	0	A	178917478	G	A	178917478	5	1	44	1	0	0	0	0	0	0	1	0	11985	1275	44	4	359	4	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-BB-7863-01A-11D-2229-08	56283021	178917478	19104952	15	8356											
GAK	2580	broad.mit.edu	37	chr4	884350	884350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactgccagcggggcccaCgggagggggtggccctcggg	4	3	20	14	3	0	0	0	0	0	0	1	1	0	1	4	7	2	0	4	7	0	0	rs150270892	byFrequency	TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr4:884350C>T	ENST00000314167.4	-	10	1161	c.1051G>A	c.(1051-1053)Gtg>Atg	p.V351M	GAK_ENST00000511163.1_Missense_Mutation_p.V272M	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	351					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCGGGGCCCACGGGAGGGGGT	0.642													14	16					0	0	0	0	T	884350	C	T	884350	3	4	44	1	0	0	0	0	1	0	0	0	6244	536	19	1	2960	1	GAK	4	884350	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08		884350	190269926	16	8357											
SH3TC1	54436	broad.mit.edu	37	chr4	8214503	8214503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctacagcagaccctccgggGccagctccgcctgctggaga	7	5	12	17	2	0	2	0	0	0	2	2	3	2	2	6	3	4	3	6	3	1	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr4:8214503G>A	ENST00000539824.1	+	4	469	c.95G>A	c.(94-96)gGc>gAc	p.G32D	SH3TC1_ENST00000245105.3_Missense_Mutation_p.G108D			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	108							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						ACCCTCCGGGGCCAGCTCCGC	0.687													7	11					0	0	0	0	A	8214503	G	A	8214503	3	1	44	1	0	0	0	0	1	0	0	0	14349	1203	42	4	333	4	SH3TC1	4	8214503	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	7330153	8214503	182939773	17	8358											
PCDH7	5099	broad.mit.edu	37	chr4	30725117	30725117	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttctattgaaaatgacacGgggaccatttactccacaat	13	13	6	9	1	1	2	0	2	1	0	2	3	2	3	2	2	1	0	2	2	5	6			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr4:30725117G>A	ENST00000361762.2	+	1	3081	c.2073G>A	c.(2071-2073)acG>acA	p.T691T	PCDH7_ENST00000543491.1_Silent_p.T691T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	691	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AAAATGACACGGGGACCATTT	0.483													42	124					0	0	0	0	A	30725117	G	A	30725117	2	1	44	1	0	0	0	0	0	0	0	1	11587	1103	39	1		1	PCDH7	4	30725117	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08	22510614	30725117	160429159	18	8359											
APBB2	323	broad.mit.edu	37	chr4	41015609	41015609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccaggggtacctgtttcatCcggggagctgggtgaggcac	6	8	16	11	1	1	1	1	1	0	0	2	2	2	2	3	6	2	4	3	6	1	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr4:41015609C>T	ENST00000295974.8	-	6	1455	c.826G>A	c.(826-828)Gat>Aat	p.D276N	APBB2_ENST00000513140.1_Missense_Mutation_p.D276N|APBB2_ENST00000508593.1_Missense_Mutation_p.D276N|APBB2_ENST00000506352.1_Missense_Mutation_p.D276N	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	276					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|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						CCTGTTTCATCCGGGGAGCTG	0.512													51	171					0	0	0	0	T	41015609	C	T	41015609	3	4	44	1	0	0	0	0	1	0	0	0	762	855	30	2	1505	2	APBB2	4	41015609	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	10290492	41015609	150138667	19	8360											
CLPTM1L	81037	broad.mit.edu	37	chr5	1331941	1331943	+	In_Frame_Del	DEL	TCT	TCT	-																															ggtggacatgccgatcatgcTcttcttcttcttccagaaac																										TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr5:1331941_1331943delTCT	ENST00000320895.5	-	8	1204_1206	c.947_949delAGA	c.(946-951)agc>a	p.KS316del	CLPTM1L_ENST00000507807.1_In_Frame_Del_p.KS183del|CLPTM1L_ENST00000320927.6_In_Frame_Del_p.KS316del	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	316					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CCGATCATGCTCTTCTTCTTCTT	0.537													9	47	---	---	---	---					-	1331943	TCT	-	1331941	7	5	44	1	0	1	0	1	0	0	0	0	3585	1551	54	0	707	0	CLPTM1L	5	1331941	In_Frame_Del	DEL	TCT	TCGA-BB-7863-01A-11D-2229-08		1331941	179583319	20	8361											
RASA1	5921	broad.mit.edu	37	chr5	86667934	86667934	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtgctgtttttctttgcaGgattggatgaaaggtctgca	9	15	12	5	0	2	1	0	1	2	0	2	3	2	3	0	3	3	4	0	3	2	4			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr5:86667934G>A	ENST00000456692.2	+	13	1282		c.e13-1		RASA1_ENST00000274376.6_Splice_Site|RASA1_ENST00000512763.1_Splice_Site|RASA1_ENST00000506290.1_Splice_Site	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1						cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TTTCTTTGCAGGATTGGATGA	0.353													3	31					0	0	0	0	A	86667934	G	A	86667934	5	1	44	1	0	0	0	0	0	0	1	0	13142	1014	35	4	1760	4	RASA1	5	86667934	Splice_Site	SNP	G	TCGA-BB-7863-01A-11D-2229-08	85335993	86667934	94247326	21	8362											
MBLAC2	153364	broad.mit.edu	37	chr5	89769908	89769908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcgccgcgtcctctttggCctctcggtcctgcaagaggc	3	9	13	16	5	2	1	0	0	2	1	5	1	4	1	4	3	1	1	4	3	1	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr5:89769908C>T	ENST00000316610.6	-	1	677	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	MBLAC2_ENST00000514906.1_Missense_Mutation_p.A68T	NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	68							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						TCCTCTTTGGCCTCTCGGTCC	0.692													4	4					0	0	0	0	T	89769908	C	T	89769908	3	4	44	1	0	0	0	0	1	0	0	0	9421	739	26	4	645	4	MBLAC2	5	89769908	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	3101974	89769908	91145352	22	8363											
PSD2	84249	broad.mit.edu	37	chr5	139218317	139218317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccatgaagaagttctGtcggcccctgctgccctcct	6	10	9	16	1	1	2	0	1	1	1	4	2	3	2	5	1	3	3	5	1	2	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr5:139218317G>A	ENST00000274710.3	+	13	2133	c.1928G>A	c.(1927-1929)tGt>tAt	p.C643Y		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	643					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAAGTTCTGTCGGCCCCTG	0.617													10	27					0	0	0	0	A	139218317	G	A	139218317	3	1	44	1	0	0	0	0	1	0	0	0	12726	1377	48	4	1974	4	PSD2	5	139218317	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	49448409	139218317	41696943	23	8364											
HARS2	23438	broad.mit.edu	37	chr5	140076840	140076840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagaccccaactcaggctgGggaggagcccctgaatgtgg	9	5	15	12	0	1	2	1	1	0	1	1	4	1	4	4	5	2	2	4	5	2	0			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr5:140076840G>A	ENST00000230771.3	+	10	1269	c.1046G>A	c.(1045-1047)gGg>gAg	p.G349E	HARS2_ENST00000508522.1_Missense_Mutation_p.G324E|HARS2_ENST00000432671.2_Missense_Mutation_p.G235E|HARS2_ENST00000448069.2_Missense_Mutation_p.G177E|HARS2_ENST00000437649.2_Missense_Mutation_p.G275E|HARS2_ENST00000435019.2_Missense_Mutation_p.G309E	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	349					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCAGGCTGGGGAGGAGCCC	0.597													18	59					0	0	0	0	A	140076840	G	A	140076840	3	1	44	1	0	0	0	0	1	0	0	0	7010	1232	43	4	1084	4	HARS2	5	140076840	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	858523	140076840	40838420	24	8365											
PCDHB6	56130	broad.mit.edu	37	chr5	140531568	140531568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgagctggtgccccgggCggccgagccgggctacctgg	4	4	17	16	5	0	0	0	0	0	0	0	2	0	0	6	5	4	2	6	5	1	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr5:140531568C>T	ENST00000231136.1	+	1	1730	c.1730C>T	c.(1729-1731)gCg>gTg	p.A577V	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A441V	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		577	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCCCCGGGCGGCCGAGCCG	0.697													23	76					0	0	0	0	T	140531568	C	T	140531568	3	4	44	1	0	0	0	0	1	0	0	0	11617	768	27	1	1732	1	PCDHB6	5	140531568	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	454728	140531568	40383692	25	8366											
OR2H1	26716	broad.mit.edu	37	chr6	29430086	29430086	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttttatgtgaggtcccAtctctgattcgactctcctg	6	16	8	11	1	2	2	0	2	2	0	6	4	3	2	2	1	0	0	2	1	1	4			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr6:29430086A>G	ENST00000377136.1	+	4	1005	c.540A>G	c.(538-540)ccA>ccG	p.P180P	OR2H1_ENST00000377132.1_Silent_p.P180P|OR2H1_ENST00000442615.1_Silent_p.P180P|OR2H1_ENST00000377133.1_Silent_p.P180P|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Silent_p.P180P			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GTGAGGTCCCATCTCTGATTC	0.502													52	136					0	0	0	0	G	29430086	A	G	29430086	2	3	44	1	0	0	0	0	0	0	0	1	11072	204	8	5		5	OR2H1	6	29430086	Silent	SNP	A	TCGA-BB-7863-01A-11D-2229-08		29430086	141684981	26	8367											
SPDEF	25803	broad.mit.edu	37	chr6	34506204	34506204	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccacagccgggccacctgGgctgagtcctcaattttgaa	8	8	10	15	1	1	2	1	2	0	0	2	2	2	2	6	2	1	1	6	2	2	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr6:34506204G>A	ENST00000374037.3	-	6	1269	c.855C>T	c.(853-855)gcC>gcT	p.A285A	SPDEF_ENST00000544425.1_Silent_p.A269A	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	285					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GGGCCACCTGGGCTGAGTCCT	0.587													36	86					0	0	0	0	A	34506204	G	A	34506204	2	1	44	1	0	0	0	0	0	0	0	1	15116	1219	43	4		4	SPDEF	6	34506204	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08	5076118	34506204	136608863	27	8368											
SYNE1	23345	broad.mit.edu	37	chr6	152451909	152451909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgagagactacacttgcctCgtggctgtttgcaatgaaca	10	11	11	9	1	0	3	0	2	0	1	1	4	0	3	1	1	4	3	1	1	3	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr6:152451909C>T	ENST00000367255.5	-	145	26700	c.26099G>A	c.(26098-26100)cGa>cAa	p.R8700Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.R8652Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.R3224Q|SYNE1_ENST00000354674.4_Missense_Mutation_p.R878Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8652Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R8312Q|SYNE1_ENST00000539504.1_Missense_Mutation_p.R855Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8700Q|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8700	Ser-rich.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACACTTGCCTCGTGGCTGTTT	0.458										HNSCC(10;0.0054)			11	19					0	0	0	0	T	152451909	C	T	152451909	3	4	44	1	0	0	0	0	1	0	0	0	15536	884	31	1	302	1	SYNE1	6	152451909	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	117945705	152451909	18663158	28	8369											
COBL	23242	broad.mit.edu	37	chr7	51203860	51203860	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcccactgccctaccttttCcgatgccttgtcttgcacag	6	12	7	16	1	1	0	0	0	1	0	2	1	2	0	5	0	5	1	5	0	1	5			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr7:51203860C>A	ENST00000395542.2	-	7	1211	c.1027G>T	c.(1027-1029)Gaa>Taa	p.E343*	COBL_ENST00000395540.2_Nonsense_Mutation_p.E318*|COBL_ENST00000265136.7_Nonsense_Mutation_p.E318*|COBL_ENST00000441453.1_Nonsense_Mutation_p.E318*			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	301	Pro-rich.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCTACCTTTTCCGATGCCTTG	0.542													23	26					7.92952e-12	8.43701e-12	1	0	A	51203860	C	A	51203860	4	1	44	1	0	0	0	0	0	1	0	0	3683	864	30	2	2865	2	COBL	7	51203860	Nonsense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08		51203860	107934803	29	8370											
POM121	9883	broad.mit.edu	37	chr7	72413760	72413760	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccggctttggagccacCacccagaccgccagcagcgg	8	4	12	17	3	0	1	0	0	0	1	1	2	1	2	6	3	4	3	6	3	0	1	rs113258116		TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr7:72413760C>T	ENST00000395270.1	+	14	3474	c.2433C>T	c.(2431-2433)acC>acT	p.T811T	POM121_ENST00000446813.1_Silent_p.T811T|POM121_ENST00000257622.4_Silent_p.T811T|POM121_ENST00000434423.2_Silent_p.T1076T|POM121_ENST00000358357.3_Silent_p.T811T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1076	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTGGAGCCACCACCCAGACCG	0.677													5	56					0	0	0	0	T	72413760	C	T	72413760	2	4	44	1	0	0	0	0	0	0	0	1	12311	581	21	4		4	POM121	7	72413760	Silent	SNP	C	TCGA-BB-7863-01A-11D-2229-08	21209900	72413760	86724903	30	8371											
ELN	2006	broad.mit.edu	37	chr7	73477649	73477651	+	In_Frame_Del	DEL	CCG	CCG	-																															tgtgttcccaggagccggacCcgccgccgccgctgccgcag																										TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr7:73477649_73477651delCCG	ENST00000252034.7	+	28	2267_2269	c.1868_1870delCCG	c.(1867-1872)ccc>c	p.PA623del	ELN_ENST00000445912.1_In_Frame_Del_p.PA623del|ELN_ENST00000357036.5_In_Frame_Del_p.PA628del|ELN_ENST00000429192.1_In_Frame_Del_p.PA609del|ELN_ENST00000320399.6_In_Frame_Del_p.PA656del|ELN_ENST00000380584.4_In_Frame_Del_p.PA575del|ELN_ENST00000358929.4_In_Frame_Del_p.PA691del|ELN_ENST00000380562.4_In_Frame_Del_p.PA629del|ELN_ENST00000380575.4_In_Frame_Del_p.PA594del|ELN_ENST00000414324.1_In_Frame_Del_p.PA599del|ELN_ENST00000380553.4_In_Frame_Del_p.PA487del|ELN_ENST00000380576.5_In_Frame_Del_p.PA604del|ELN_ENST00000458204.1_In_Frame_Del_p.PA613del|ELN_ENST00000320492.7_In_Frame_Del_p.PA542del	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	685	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGAGCCGGACccgccgccgccgc	0.68			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						2	4	---	---	---	---					-	73477651	CCG	-	73477649	7	5	44	1	0	1	0	1	0	0	0	0	5109	623	22	0	1993	0	ELN	7	73477649	In_Frame_Del	DEL	CCG	TCGA-BB-7863-01A-11D-2229-08	1063889	73477649	85661014	31	8372											
POM121C	100101267	broad.mit.edu	37	chr7	75051093	75051093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgctggcggtctgggtGgtggctccaaagccggagct	4	8	17	12	3	1	0	0	0	1	0	2	1	2	1	3	6	3	4	3	6	1	0			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr7:75051093G>A	ENST00000453279.2	-	13	3306	c.2442C>T	c.(2440-2442)acC>acT	p.T814T	POM121C_ENST00000257665.5_Silent_p.T1056T	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1056	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CGGTCTGGGTGGTGGCTCCAA	0.672													8	86					0	0	0	0	A	75051093	G	A	75051093	2	1	44	1	0	0	0	0	0	0	0	1	12312	1335	47	4		4	POM121C	7	75051093	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08	1573444	75051093	84087570	32	8373											
COL1A2	1278	broad.mit.edu	37	chr7	94038721	94038721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccaggcctctccggccccGttggacctcctgtaagtagc	5	10	10	16	2	1	0	0	0	1	0	4	1	3	1	7	3	1	3	7	3	2	4	rs145693444	byFrequency	TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr7:94038721G>A	ENST00000297268.6	+	17	1351	c.880G>A	c.(880-882)Gtt>Att	p.V294I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	294					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCCGGCCCCGTTGGACCTCC	0.502										HNSCC(75;0.22)			38	61					0	0	0	0	A	94038721	G	A	94038721	3	1	44	1	0	0	0	0	1	0	0	0	3708	1145	40	1	946	1	COL1A2	7	94038721	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	18987628	94038721	65099942	33	8374											
IQUB	154865	broad.mit.edu	37	chr7	123143278	123143278	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttggacagtgacagttatGatttgagagacatcagttaa	13	13	11	4	0	1	4	1	3	0	1	1	6	1	5	0	1	0	3	0	1	2	4			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr7:123143278G>A	ENST00000466202.1	-	4	1248	c.672C>T	c.(670-672)atC>atT	p.I224I	IQUB_ENST00000434450.1_Silent_p.I224I|IQUB_ENST00000324698.6_Silent_p.I224I|IQUB_ENST00000488987.1_5'UTR			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	224										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGACAGTTATGATTTGAGAGA	0.353													9	46					0	0	0	0	A	123143278	G	A	123143278	2	1	44	1	0	0	0	0	0	0	0	1	7873	1280	45	2		2	IQUB	7	123143278	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08	29104557	123143278	35995385	34	8375											
SGK223	157285	broad.mit.edu	37	chr8	8235417	8235417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcctctcgccgcggggctCaaggttgtgcaggccgacca	5	8	14	14	4	2	0	1	0	1	0	4	1	3	0	4	4	1	4	4	4	1	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr8:8235417C>T	ENST00000520004.1	-	3	766	c.502G>A	c.(502-504)Gag>Aag	p.E168K	SGK223_ENST00000330777.4_Missense_Mutation_p.E168K			Q86YV5	SG223_HUMAN		168							ATP binding|non-membrane spanning protein tyrosine kinase activity										CCGCGGGGCTCAAGGTTGTGC	0.592													21	46					0	0	0	0	T	8235417	C	T	8235417	3	4	44	1	0	0	0	0	1	0	0	0	14297	835	29	2	3722	2	SGK223	8	8235417	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08		8235417	138128605	35	8376											
SCARA3	51435	broad.mit.edu	37	chr8	27509034	27509034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcccccacaggccggccagGgccccgctgcagccgctgcc	4	3	13	21	3	0	0	0	0	0	0	1	0	1	0	8	3	3	3	8	3	0	0			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr8:27509034G>A	ENST00000301904.3	+	3	136	c.116G>A	c.(115-117)gGg>gAg	p.G39E	SCARA3_ENST00000337221.4_Missense_Mutation_p.G39E	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	39					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGCCGGCCAGGGCCCCGCTGC	0.617													11	18					0	0	0	0	A	27509034	G	A	27509034	3	1	44	1	0	0	0	0	1	0	0	0	13965	1232	43	4	126	4	SCARA3	8	27509034	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	19273617	27509034	118854988	36	8377											
IKBKB	3551	broad.mit.edu	37	chr8	42177162	42177162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtggagctctgtgggCgggtaggagactcattttgg	6	11	18	6	1	2	1	1	0	1	1	2	3	2	2	0	6	1	3	0	6	1	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr8:42177162C>T	ENST00000520810.1	+	15	1762	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	IKBKB_ENST00000520835.1_Missense_Mutation_p.R524W|IKBKB_ENST00000522785.1_Intron|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.R303W|IKBKB_ENST00000416505.2_Missense_Mutation_p.R467W	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	526			R -> Q (in dbSNP:rs2272736).		anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GCTCTGTGGGCGGGTAGGAGA	0.453											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	28					0	0	0	0	T	42177162	C	T	42177162	3	4	44	1	0	0	0	0	1	0	0	0	7664	759	27	1	1630	1	IKBKB	8	42177162	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	14668128	42177162	104186860	37	8378											
SOX17	64321	broad.mit.edu	37	chr8	55372477	55372477	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccggtgtgaatctcccCgacagccacggggccatttc	7	8	11	15	3	1	1	0	1	1	0	4	3	2	1	5	3	1	0	5	3	1	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr8:55372477C>T	ENST00000297316.4	+	2	1371	c.1167C>T	c.(1165-1167)ccC>ccT	p.P389P		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	389	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			TGAATCTCCCCGACAGCCACG	0.607													12	31					0	0	0	0	T	55372477	C	T	55372477	2	4	44	1	0	0	0	0	0	0	0	1	15035	639	23	1		1	SOX17	8	55372477	Silent	SNP	C	TCGA-BB-7863-01A-11D-2229-08	13195315	55372477	90991545	38	8379											
SNX31	169166	broad.mit.edu	37	chr8	101589289	101589289	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttacttttgctttgttcCggaacttcaatctgctagat	7	20	6	8	1	2	1	1	0	1	1	3	2	3	2	1	1	4	3	1	1	4	9	rs149337394	byFrequency	TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr8:101589289C>G	ENST00000311812.2	-	13	1335	c.1185G>C	c.(1183-1185)ccG>ccC	p.P395P	SNX31_ENST00000428383.2_Silent_p.P296P	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	395					cell communication|protein transport		phosphatidylinositol binding	p.P395P(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TGCTTTGTTCCGGAACTTCAA	0.348													36	71					0	0	0	0	G	101589289	C	G	101589289	2	3	44	1	0	0	0	0	0	0	0	1	14989	639	23	3		3	SNX31	8	101589289	Silent	SNP	C	TCGA-BB-7863-01A-11D-2229-08	46216812	101589289	44774733	39	8380											
PKHD1L1	93035	broad.mit.edu	37	chr8	110465003	110465003	+	Frame_Shift_Del	DEL	A	A	-																															tccaatttctcatgggggggAaaatctcccccagaagaagg																										TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr8:110465003delA	ENST00000378402.5	+	43	6668	c.6564delA	c.(6562-6564)ggfs	p.G2188fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2188	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATGGGGGGGAAAATCTCCCC	0.393										HNSCC(38;0.096)			2	4	---	---	---	---					-	110465003	A	-	110465003	7	5	44	1	0	1	0	1	0	0	0	0	12044	233	9	0	6734	0	PKHD1L1	8	110465003	Frame_Shift_Del	DEL	A	TCGA-BB-7863-01A-11D-2229-08	8875714	110465003	35899019	40	8381											
OR13F1	138805	broad.mit.edu	37	chr9	107267480	107267480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaatcattttaatactGccttcatttccatcctcaaa	13	16	2	10	0	3	1	3	0	0	1	5	1	5	1	3	0	2	0	3	0	5	6			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr9:107267480G>A	ENST00000334726.2	+	1	1026	c.937G>A	c.(937-939)Gcc>Acc	p.A313T		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTTAATACTGCCTTCATTTC	0.358													11	16					0	0	0	0	A	107267480	G	A	107267480	3	1	44	1	0	0	0	0	1	0	0	0	11012	1319	46	4	939	4	OR13F1	9	107267480	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08		107267480	33945951	41	8382											
NOTCH1	4851	broad.mit.edu	37	chr9	139400209	139400209	+	Frame_Shift_Del	DEL	C	C	-																															ccgggaactggcattcggggCccgtgaaggggcccaggcac																										TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr9:139400209delC	ENST00000277541.6	-	25	4214	c.4139delG	c.(4138-4140)gcfs	p.G1380fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1380	EGF-like 35.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCATTCGGGGCCCGTGAAGGG	0.697			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			8	20	---	---	---	---					-	139400209	C	-	139400209	7	5	44	1	0	1	0	1	0	0	0	0	10617	739	26	0	3568	0	NOTCH1	9	139400209	Frame_Shift_Del	DEL	C	TCGA-BB-7863-01A-11D-2229-08	32132729	139400209	1813222	42	8383											
DHTKD1	55526	broad.mit.edu	37	chr10	12139932	12139932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctgcggtttgttggcatGaagtctgtagaggtgccaag	7	12	14	8	1	1	2	0	1	1	1	2	2	2	2	2	3	2	4	2	3	3	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr10:12139932G>A	ENST00000263035.4	+	8	1670	c.1608G>A	c.(1606-1608)atG>atA	p.M536I	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	536					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTGTTGGCATGAAGTCTGTAG	0.572													10	65					0	0	0	0	A	12139932	G	A	12139932	3	1	44	1	0	0	0	0	1	0	0	0	4537	1290	45	2	1638	2	DHTKD1	10	12139932	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08		12139932	123394815	43	8384											
ITGA8	8516	broad.mit.edu	37	chr10	15590480	15590480	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgtgggcccataatcGtgacctgactttcaggactg	9	10	13	9	1	1	2	1	2	0	0	2	4	1	3	2	3	0	0	2	3	2	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr10:15590480G>A	ENST00000378076.3	-	27	3207	c.2854C>T	c.(2854-2856)Cga>Tga	p.R952*		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	952					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCCCATAATCGTGACCTGACT	0.483													18	24					0	0	0	0	A	15590480	G	A	15590480	4	1	44	1	0	0	0	0	0	1	0	0	7935	1153	40	1	353	1	ITGA8	10	15590480	Nonsense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	3450548	15590480	119944267	44	8385											
EIF3A	8661	broad.mit.edu	37	chr10	120795718	120795718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgggggaggaactcgacGaggagggtcccgctcttcca	8	6	16	11	3	1	0	0	0	1	0	4	5	3	3	2	5	2	2	2	5	1	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr10:120795718G>A	ENST00000369144.3	-	22	4109	c.3982C>T	c.(3982-3984)Cgt>Tgt	p.R1328C	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.R1294C	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1328					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	p.R1328C(1)|p.R1328S(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GGAACTCGACGAGGAGGGTCC	0.448													20	52					0	0	0	0	A	120795718	G	A	120795718	3	1	44	1	0	0	0	0	1	0	0	0	5048	1058	37	1	170	1	EIF3A	10	120795718	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	105205238	120795718	14739029	45	8386											
EHBP1L1	254102	broad.mit.edu	37	chr11	65349476	65349476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggaccagaggcgacagggGtgatgcctgaggcaagatgc	11	4	18	8	1	0	4	0	2	0	2	0	6	0	5	2	5	2	1	2	5	1	0			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr11:65349476G>A	ENST00000309295.4	+	9	1598	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	445										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCGACAGGGGTGATGCCTGA	0.607													8	44					0	0	0	0	A	65349476	G	A	65349476	3	1	44	1	0	0	0	0	1	0	0	0	5012	1261	44	4	1367	4	EHBP1L1	11	65349476	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08		65349476	69657040	46	8387											
SPTBN2	6712	broad.mit.edu	37	chr11	66460454	66460454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacccacctctctgggtgctCgtggtcaatcatgtcctggc	5	11	10	15	1	3	0	2	0	1	0	6	0	4	0	3	3	1	1	3	3	1	0			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr11:66460454C>T	ENST00000533211.1	-	25	5303	c.4972G>A	c.(4972-4974)Gag>Aag	p.E1658K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1658K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1658K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1658					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCTGGGTGCTCGTGGTCAATC	0.662													7	287					0	0	0	0	T	66460454	C	T	66460454	3	4	44	1	0	0	0	0	1	0	0	0	15210	893	31	1	2256	1	SPTBN2	11	66460454	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	1110978	66460454	68546062	47	8388											
PDE2A	5138	broad.mit.edu	37	chr11	72299887	72299887	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accacctggtcagtggcccgGctgatgacagggacacagag	10	5	14	12	1	1	3	1	2	0	1	1	4	1	4	3	4	0	1	3	4	0	0			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr11:72299887G>A	ENST00000334456.5	-	13	1256	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	PDE2A_ENST00000540345.1_Silent_p.S328S|PDE2A_ENST00000444035.2_Silent_p.S328S|PDE2A_ENST00000544570.1_Silent_p.S330S|PDE2A_ENST00000418754.2_Silent_p.S222S|PDE2A_ENST00000376450.3_Intron	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	337	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CAGTGGCCCGGCTGATGACAG	0.577													19	54					0	0	0	0	A	72299887	G	A	72299887	2	1	44	1	0	0	0	0	0	0	0	1	11707	1194	42	4		4	PDE2A	11	72299887	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08	5839433	72299887	62706629	48	8389											
DLG2	1740	broad.mit.edu	37	chr11	84027957	84027957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcttgtgggggcttttccGcacactgtcccacaaggtcc	5	11	11	14	2	1	0	0	0	1	0	4	0	4	0	3	3	0	2	3	3	1	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr11:84027957G>A	ENST00000280241.8	-	1	231	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	DLG2_ENST00000398309.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.R78W	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GGGCTTTTCCGCACACTGTCC	0.597													3	54					0	0	0	0	A	84027957	G	A	84027957	3	1	44	1	0	0	0	0	1	0	0	0	4592	1102	38	1		1	DLG2	11	84027957	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	11728070	84027957	50978559	49	8390											
FAT3	120114	broad.mit.edu	37	chr11	92532047	92532047	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactacatgctgatagttaaGgtgtctgatggaaagttcta	12	13	10	6	0	2	2	0	2	2	0	2	3	2	3	0	2	2	3	0	2	5	5			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr11:92532047G>A	ENST00000298047.6	+	9	5885	c.5868G>A	c.(5866-5868)aaG>aaA	p.K1956K	FAT3_ENST00000409404.2_Silent_p.K1956K|FAT3_ENST00000525166.1_Silent_p.K1806K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1956	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGATAGTTAAGGTGTCTGATG	0.418										TCGA Ovarian(4;0.039)			26	69					0	0	0	0	A	92532047	G	A	92532047	2	1	44	1	0	0	0	0	0	0	0	1	5736	991	35	4		4	FAT3	11	92532047	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08	8504090	92532047	42474469	50	8391											
DSCAML1	57453	broad.mit.edu	37	chr11	117352739	117352739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatggcataccgcatgacgCggtcagggtcgatgactgtg	8	8	15	10	5	1	2	1	2	0	0	2	4	1	2	1	3	1	2	1	3	1	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr11:117352739C>T	ENST00000321322.6	-	12	2679	c.2678G>A	c.(2677-2679)cGc>cAc	p.R893H	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R623H	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	833	Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGCATGACGCGGTCAGGGTC	0.632													16	43					0	0	0	0	T	117352739	C	T	117352739	3	4	44	1	0	0	0	0	1	0	0	0	4805	768	27	1	3751	1	DSCAML1	11	117352739	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	24820692	117352739	17653777	51	8392											
ST14	6768	broad.mit.edu	37	chr11	130078366	130078366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaccagagccagcgcagcGcccctggggtgcaggagcgc	8	2	16	15	4	0	1	0	0	0	1	0	3	0	2	4	3	5	2	4	3	0	0			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr11:130078366G>A	ENST00000278742.5	+	17	2474	c.2056G>A	c.(2056-2058)Gcc>Acc	p.A686T		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	686	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.A686T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CCAGCGCAGCGCCCCTGGGGT	0.627													13	33					0	0	0	0	A	130078366	G	A	130078366	3	1	44	1	0	0	0	0	1	0	0	0	15301	1087	38	1	2122	1	ST14	11	130078366	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	12725627	130078366	4928150	52	8393											
SPSB2	84727	broad.mit.edu	37	chr12	6981827	6981851	+	Frame_Shift_Del	DEL	CCCCGGGCCCCATCAGTGCTCTGGG	CCCCGGGCCCCATCAGTGCTCTGGG	-																															cccttgaatagcccctcttaCcccgggccccatcagtgctc																								rs140296621	by1000genomes	TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr12:6981827_6981851delCCCCGGGCCCCATCAGTGCTCTGGG	ENST00000519357.1	-	2	401_425	c.215_239delCCCAGAGCACTGATGGGGCCCGGGG	c.(214-240)gtfs	p.AQSTDGARG72fs	SPSB2_ENST00000524270.1_Frame_Shift_Del_p.AQSTDGARG72fs|SPSB2_ENST00000523102.1_Frame_Shift_Del_p.AQSTDGARG72fs			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	72	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCCCCTCTTACCCCGGGCCCCATCAGTGCTCTGGGCCACGGGCCG	0.671											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	79	---	---	---	---					-	6981851	CCCCGGGCCCCATCAGTGCTCTGGG	-	6981827	7	5	44	1	0	1	0	1	0	0	0	0	15203	507	18	0	560	0	SPSB2	12	6981827	Frame_Shift_Del	DEL	CCCCGGGCCCCATCAGTGCTCTGGG	TCGA-BB-7863-01A-11D-2229-08		6981827	126870068	53	8394											
CD163L1	283316	broad.mit.edu	37	chr12	7548909	7548909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcagctttactgttccagCcgtcatcacacactgtgccc	7	11	7	16	1	2	0	2	0	0	0	3	0	3	0	3	0	5	3	3	0	1	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr12:7548909C>T	ENST00000313599.3	-	8	1889	c.1832G>A	c.(1831-1833)gGc>gAc	p.G611D	CD163L1_ENST00000416109.2_Missense_Mutation_p.G621D|CD163L1_ENST00000396630.1_Missense_Mutation_p.G611D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	611	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACTGTTCCAGCCGTCATCACA	0.562													12	43					0	0	0	0	T	7548909	C	T	7548909	3	4	44	1	0	0	0	0	1	0	0	0	2997	739	26	4	2577	4	CD163L1	12	7548909	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	567082	7548909	126302986	54	8395											
TAS2R19	259294	broad.mit.edu	37	chr12	11174603	11174603	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaaaacatattaggctcaGagtaaagggtatgaggtttg	15	10	12	4	0	1	3	1	1	0	2	1	3	1	3	0	3	1	4	0	3	7	5			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr12:11174603G>C	ENST00000390673.2	-	1	616	c.568C>G	c.(568-570)Ctg>Gtg	p.L190V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	190					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.L190V(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ATTAGGCTCAGAGTAAAGGGT	0.398													18	105					0	0	0	0	C	11174603	G	C	11174603	3	2	44	1	0	0	0	0	1	0	0	0	15661	933	33	2	334	2	TAS2R19	12	11174603	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	3625694	11174603	122677292	55	8396											
ARID2	196528	broad.mit.edu	37	chr12	46233255	46233255	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatagagcaagtccaaaccCagactcatgtagcatctgcc	13	8	7	13	0	2	2	1	0	1	2	3	2	3	2	3	0	4	3	3	0	5	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr12:46233255C>T	ENST00000334344.6	+	11	1646	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q102*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q343*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	492					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGTCCAAACCCAGACTCATGT	0.398			"N, S, F"		hepatocellular carcinoma								23	90					0	0	0	0	T	46233255	C	T	46233255	4	4	44	1	0	0	0	0	0	1	0	0	917	595	21	4	1516	4	ARID2	12	46233255	Nonsense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	35058652	46233255	87618640	56	8397											
AGAP2	116986	broad.mit.edu	37	chr12	58125689	58125689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggctcggagctcccggtgaCcaacattcggtgaggacggg	7	6	16	12	5	0	2	0	2	0	0	3	4	1	4	2	6	2	2	2	6	1	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr12:58125689C>T	ENST00000257897.3	-	8	933	c.848G>A	c.(847-849)gGt>gAt	p.G283D	AGAP2_ENST00000547588.1_Missense_Mutation_p.G619D	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	619	Interaction with PLCG1 (By similarity).				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						CTCCCGGTGACCAACATTCGG	0.622													6	16					0	0	0	0	T	58125689	C	T	58125689	3	4	44	1	0	0	0	0	1	0	0	0	368	507	18	4	1770	4	AGAP2	12	58125689	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	11892434	58125689	75726206	57	8398											
DAO	1610	broad.mit.edu	37	chr12	109288094	109288094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggggtatgggctggggCgctacaacgagaccccctgc	7	6	15	13	2	0	1	0	0	0	1	0	2	0	1	2	5	3	3	2	5	3	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr12:109288094C>T	ENST00000228476.3	+	7	767	c.563C>T	c.(562-564)gCg>gTg	p.A188V	DAO_ENST00000551281.1_Missense_Mutation_p.A122V	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	188					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						TGGGCTGGGGCGCTACAACGA	0.567													6	21					0	0	0	0	T	109288094	C	T	109288094	3	4	44	1	0	0	0	0	1	0	0	0	4264	768	27	1	585	1	DAO	12	109288094	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	51162405	109288094	24563801	58	8399											
GPR133	283383	broad.mit.edu	37	chr12	131484963	131484963	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagagatccttctactGcctggttggattgctctgtc	5	14	13	9	0	2	1	0	0	2	1	4	4	3	3	2	3	3	2	2	3	1	4			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr12:131484963G>T	ENST00000261654.5	+	9	1561	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	GPR133_ENST00000535015.1_Silent_p.L366L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	334					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCTTCTACTGCCTGGTTGGA	0.498													22	55					1.10923e-09	1.17086e-09	1	0	T	131484963	G	T	131484963	2	4	44	1	0	0	0	0	0	0	0	1	6692	1306	46	4		4	GPR133	12	131484963	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08	22196869	131484963	2366932	59	8400											
FRY	10129	broad.mit.edu	37	chr13	32783029	32783029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaacacaccccaacgggcGccagatcatgcttacctacc	12	5	6	18	2	1	1	1	0	0	1	1	1	1	1	5	1	5	1	5	1	4	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr13:32783029G>A	ENST00000380250.3	+	32	4554	c.4058G>A	c.(4057-4059)cGc>cAc	p.R1353H		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCCAACGGGCGCCAGATCATG	0.557													19	55					0	0	0	0	A	32783029	G	A	32783029	3	1	44	1	0	0	0	0	1	0	0	0	6111	1087	38	1	4184	1	FRY	13	32783029	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08		32783029	82386849	60	8401											
SLAIN1	122060	broad.mit.edu	37	chr13	78320979	78320979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagatcagcaaccaaataGgaccaatggaggtaggttgt	14	8	11	8	0	1	1	1	0	0	1	2	3	2	3	3	4	2	3	3	4	5	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr13:78320979G>A	ENST00000466548.1	+	5	1207	c.1181G>A	c.(1180-1182)aGg>aAg	p.R394K	SLAIN1_ENST00000351546.3_Missense_Mutation_p.R131K|SLAIN1_ENST00000488699.1_Missense_Mutation_p.R252K|SLAIN1_ENST00000418532.1_Missense_Mutation_p.R175K|SLAIN1_ENST00000358679.3_Missense_Mutation_p.R131K|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000267219.8_Missense_Mutation_p.R175K	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	394										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		CAACCAAATAGGACCAATGGA	0.358													13	43					0	0	0	0	A	78320979	G	A	78320979	3	1	44	1	0	0	0	0	1	0	0	0	14453	1000	35	4	534	4	SLAIN1	13	78320979	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	45537950	78320979	36848899	61	8402											
RPGRIP1	57096	broad.mit.edu	37	chr14	21789538	21789538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacatgcttattctgcagCgcaaaatcaacgtgtgttat	11	12	10	8	2	2	0	1	0	1	0	2	1	2	1	0	1	4	4	0	1	5	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr14:21789538C>T	ENST00000206660.6	+	12	1588	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.R172C|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R503C|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.R503C|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.R530C			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	530					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TATTCTGCAGCGCAAAATCAA	0.463													7	38					0	0	0	0	T	21789538	C	T	21789538	3	4	44	1	0	0	0	0	1	0	0	0	13634	768	27	1	1634	1	RPGRIP1	14	21789538	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08		21789538	85560002	62	8403											
CMA1	1215	broad.mit.edu	37	chr14	24976687	24976687	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggggcgggaatgtggcttGcattctgtgcccccgatgat	6	11	15	9	2	1	1	0	1	1	0	1	3	1	2	2	4	2	2	2	4	2	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr14:24976687G>A	ENST00000250378.3	-	2	113	c.84C>T	c.(82-84)tgC>tgT	p.C28C	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	28	Peptidase S1.			C -> S (in Ref. 7; AAB26828).	interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		AATGTGGCTTGCATTCTGTGC	0.493													32	99					0	0	0	0	A	24976687	G	A	24976687	2	1	44	1	0	0	0	0	0	0	0	1	3604	1311	46	4		4	CMA1	14	24976687	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08	3187149	24976687	82372853	63	8404											
COCH	1690	broad.mit.edu	37	chr14	31349792	31349792	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactggtttggttgttcgcaGattgtaaagcagacattgca	10	13	12	6	1	0	2	0	0	0	2	1	3	0	2	0	2	2	7	0	2	2	6			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr14:31349792G>A	ENST00000460581.2	+	6	691		c.e6-1		COCH_ENST00000475087.1_Splice_Site|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Splice_Site|COCH_ENST00000382493.4_5'UTR|COCH_ENST00000216361.4_Splice_Site			O43405	COCH_HUMAN	cochlin						sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GTTGTTCGCAGATTGTAAAGC	0.408													5	80					0	0	0	0	A	31349792	G	A	31349792	5	1	44	1	0	0	0	0	0	0	1	0	3686	956	33	2	507	2	COCH	14	31349792	Splice_Site	SNP	G	TCGA-BB-7863-01A-11D-2229-08	6373105	31349792	75999748	64	8405											
RYR3	6263	broad.mit.edu	37	chr15	33954657	33954657	+	Silent	SNP	C	C	T																															accaccaggaatatccgcctCttcccggacgagtccaagag																										TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr15:33954657C>T	ENST00000389232.4	+	35	4996	c.4926C>T	c.(4924-4926)ctC>ctT	p.L1642L	RYR3_ENST00000415757.3_Silent_p.L1642L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1642	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATATCCGCCTCTTCCCGGACG	0.567													5	22					0	0	0	0	T	33954657	C	T	33954657	2	4	44	1	0	0	0	0	0	0	0	1	13855	900	32	2		2	RYR3	15	33954657	Silent	SNP	C	TCGA-BB-7863-01A-11D-2229-08		33954657	68576735	65	8406	73	2									
RYR3	6263	broad.mit.edu	37	chr15	33954658	33954658	+	Missense_Mutation	SNP	T	T	A																															ccaccaggaatatccgcctcTtcccggacgagtccaagagg																										TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr15:33954658T>A	ENST00000389232.4	+	35	4997	c.4927T>A	c.(4927-4929)Ttc>Atc	p.F1643I	RYR3_ENST00000415757.3_Missense_Mutation_p.F1643I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1643	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TATCCGCCTCTTCCCGGACGA	0.572													5	23					0	0	0	0	A	33954658	T	A	33954658	3	1	44	1	0	0	0	0	1	0	0	0	13855	1609	56	5	5065	5	RYR3	15	33954658	Missense_Mutation	SNP	T	TCGA-BB-7863-01A-11D-2229-08	1	33954658	68576734	66	8407	73	2									
LOXL1	4016	broad.mit.edu	37	chr15	74241808	74241808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcttcctcaggtgcacgtGaacccaaagtatattgtttt	9	15	7	10	1	2	1	1	1	1	0	3	1	3	1	2	1	2	3	2	1	4	7			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr15:74241808G>A	ENST00000261921.7	+	6	1937	c.1611G>A	c.(1609-1611)gtG>gtA	p.V537V	LOXL1_ENST00000567675.1_3'UTR	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	537	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						AGGTGCACGTGAACCCAAAGT	0.488													28	116					0	0	0	0	A	74241808	G	A	74241808	2	1	44	1	0	0	0	0	0	0	0	1	8963	1277	45	2		2	LOXL1	15	74241808	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08	40287150	74241808	28289584	67	8408											
ITFG3	83986	broad.mit.edu	37	chr16	304625	304625	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtctcattcgtcatcccGtgtccagaccggccggcgtc	4	10	11	16	6	2	1	2	0	1	1	8	1	4	1	4	2	0	0	4	2	0	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:304625G>A	ENST00000399932.3	+	3	664	c.213G>A	c.(211-213)ccG>ccA	p.P71P	ITFG3_ENST00000442458.2_Silent_p.P71P|ITFG3_ENST00000301678.3_Silent_p.P71P|ITFG3_ENST00000301679.2_Silent_p.P71P|ITFG3_ENST00000450082.2_Silent_p.P71P|ITFG3_ENST00000600536.1_Silent_p.P71P			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	71						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TCGTCATCCCGTGTCCAGACC	0.607													14	254					0	0	0	0	A	304625	G	A	304625	2	1	44	1	0	0	0	0	0	0	0	1	7924	1132	40	1		1	ITFG3	16	304625	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08		304625	90050128	68	8409											
ABAT	18	broad.mit.edu	37	chr16	8862755	8862755	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgactggcccatcgcaccGttcccacggctgaaataccc	8	9	8	16	3	0	2	0	2	0	0	2	2	1	2	4	2	1	3	4	2	2	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:8862755G>A	ENST00000396600.2	+	11	1679	c.741G>A	c.(739-741)ccG>ccA	p.P247P	ABAT_ENST00000268251.8_Silent_p.P247P|ABAT_ENST00000569156.1_Silent_p.P247P|ABAT_ENST00000567812.1_Silent_p.P262P|ABAT_ENST00000425191.2_Silent_p.P247P	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	247				P -> T (in Ref. 2; AAB38510).	behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CCATCGCACCGTTCCCACGGC	0.517													74	154					0	0	0	0	A	8862755	G	A	8862755	2	1	44	1	0	0	0	0	0	0	0	1	27	1132	40	1		1	ABAT	16	8862755	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08	8558130	8862755	81491998	69	8410											
ACSM1	116285	broad.mit.edu	37	chr16	20648500	20648500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgatgccctggctgccagGgtcagcggtgttcatgctca	5	11	14	11	1	3	1	3	1	0	0	3	1	3	1	2	3	4	3	2	3	0	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:20648500G>T	ENST00000219151.4	-	9	1322	c.112C>A	c.(112-114)Cct>Act	p.P38T	ACSM1_ENST00000307493.4_Intron|ACSM1_ENST00000520010.1_Intron			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	399					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGGCTGCCAGGGTCAGCGGTG	0.478													15	78					1.15088e-07	1.19583e-07	1	0	T	20648500	G	T	20648500	3	4	44	1	0	0	0	0	1	0	0	0	182	1247	43	4		4	ACSM1	16	20648500	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	11785745	20648500	69706253	70	8411											
DNAH3	55567	broad.mit.edu	37	chr16	20996671	20996671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcgccagtcattgcctgCgtagttcttggtgatctcaa	6	15	9	11	2	4	1	2	1	3	0	6	1	4	1	2	1	2	2	2	1	2	5			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:20996671C>T	ENST00000261383.3	-	48	7392	c.7393G>A	c.(7393-7395)Gca>Aca	p.A2465T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2465	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATTGCCTGCGTAGTTCTTG	0.542													7	26					0	0	0	0	T	20996671	C	T	20996671	3	4	44	1	0	0	0	0	1	0	0	0	4640	768	27	1	5016	1	DNAH3	16	20996671	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	348171	20996671	69358082	71	8412											
NFATC2IP	84901	broad.mit.edu	37	chr16	28967639	28967639	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgccgggctgacctggTcagattgcccctcaggatgg	5	9	14	13	2	2	2	2	1	0	1	2	3	2	3	5	4	2	2	5	4	0	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:28967639T>C	ENST00000320805.4	+	5	902	c.827T>C	c.(826-828)gTc>gCc	p.V276A	NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000562977.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	276						cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GCTGACCTGGTCAGATTGCCC	0.617													5	20					0	0	0	0	C	28967639	T	C	28967639	3	2	44	1	0	0	0	0	1	0	0	0	10433	1667	58	5	845	5	NFATC2IP	16	28967639	Missense_Mutation	SNP	T	TCGA-BB-7863-01A-11D-2229-08	7970968	28967639	61387114	72	8413											
FAM65A	79567	broad.mit.edu	37	chr16	67572623	67572623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccacggaagccccccgcGctctcccgagtgtccaggat	6	5	10	20	4	1	0	0	0	1	0	3	3	2	2	7	2	1	1	7	2	1	0			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:67572623G>A	ENST00000540839.3	+	4	433	c.213G>A	c.(211-213)gcG>gcA	p.A71A	CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Silent_p.A65A|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000422602.2_Silent_p.A71A|FAM65A_ENST00000379312.3_Silent_p.A55A|FAM65A_ENST00000042381.4_Silent_p.A51A			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	55						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AGCCCCCCGCGCTCTCCCGAG	0.682													16	88					0	0	0	0	A	67572623	G	A	67572623	2	1	44	1	0	0	0	0	0	0	0	1	5645	1074	38	1		1	FAM65A	16	67572623	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08	38604984	67572623	22782130	73	8414											
AARS	16	broad.mit.edu	37	chr16	70302229	70302229	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcccctgctggcattgAgcttttcatgggcgtatcgg	7	11	13	10	2	1	2	1	1	0	1	2	2	1	2	2	3	3	4	2	3	2	4			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:70302229A>G	ENST00000261772.8	-	8	1159	c.1016T>C	c.(1015-1017)cTc>cCc	p.L339P		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	339					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GCTGGCATTGAGCTTTTCATG	0.502													21	60					0	0	0	0	G	70302229	A	G	70302229	3	3	44	1	0	0	0	0	1	0	0	0	19	304	11	5	1946	5	AARS	16	70302229	Missense_Mutation	SNP	A	TCGA-BB-7863-01A-11D-2229-08	2729606	70302229	20052524	74	8415											
ACSF3	197322	broad.mit.edu	37	chr16	89169065	89169065	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacgacgtgatcctccaCgtgctcccgctgcaccacgt	9	7	9	16	5	0	2	0	1	0	1	3	3	3	2	4	0	2	3	4	0	1	0			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:89169065C>T	ENST00000317447.4	+	4	1097	c.720C>T	c.(718-720)caC>caT	p.H240H	ACSF3_ENST00000406948.3_Silent_p.H240H|ACSF3_ENST00000378345.4_5'UTR	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	240					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGATCCTCCACGTGCTCCCGC	0.622													12	40					0	0	0	0	T	89169065	C	T	89169065	2	4	44	1	0	0	0	0	0	0	0	1	176	535	19	1		1	ACSF3	16	89169065	Silent	SNP	C	TCGA-BB-7863-01A-11D-2229-08	18866836	89169065	1185688	75	8416											
MYH13	8735	broad.mit.edu	37	chr17	10248866	10248866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccagctgctggttgatgCgggtgaccatccacaggaac	8	9	13	11	1	0	2	0	2	0	0	2	3	2	3	3	3	4	3	3	3	1	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr17:10248866C>T	ENST00000418404.3	-	13	1494	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	MYH13_ENST00000570743.1_Missense_Mutation_p.R444H|MYH13_ENST00000252172.4_Missense_Mutation_p.R444H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	444	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGGTTGATGCGGGTGACCAT	0.522													5	169					0	0	0	0	T	10248866	C	T	10248866	3	4	44	1	0	0	0	0	1	0	0	0	10102	768	27	1	4597	1	MYH13	17	10248866	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08		10248866	70946344	76	8417											
MYH4	4622	broad.mit.edu	37	chr17	10351372	10351372	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagcaatttttcggtcAatctcagatttcacctgatt	9	18	5	9	1	4	2	4	1	1	1	6	2	4	2	1	1	1	1	1	1	2	6			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr17:10351372A>C	ENST00000255381.2	-	34	4838	c.4728T>G	c.(4726-4728)atT>atG	p.I1576M	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1576					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTTTCGGTCAATCTCAGATT	0.383													4	63					0	0	0	0	C	10351372	A	C	10351372	3	2	44	1	0	0	0	0	1	0	0	0	10107	126	5	5	1119	5	MYH4	17	10351372	Missense_Mutation	SNP	A	TCGA-BB-7863-01A-11D-2229-08	102506	10351372	70843838	77	8418											
NEK8	284086	broad.mit.edu	37	chr17	27068550	27068550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccttacacggtgacttccGtgtcctgttgccatggaaac	8	11	9	13	2	0	1	0	1	0	0	2	2	2	2	4	2	3	1	4	2	2	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr17:27068550G>A	ENST00000268766.6	+	14	2045	c.2011G>A	c.(2011-2013)Gtg>Atg	p.V671M	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	671						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GGTGACTTCCGTGTCCTGTTG	0.587													19	70					0	0	0	0	A	27068550	G	A	27068550	3	1	44	1	0	0	0	0	1	0	0	0	10400	1145	40	1	2065	1	NEK8	17	27068550	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	16717178	27068550	54126660	78	8419											
GIT1	28964	broad.mit.edu	37	chr17	27903140	27903140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cactgaatagatggcgtcgtCctctagctcctggggatgtt	7	12	12	10	2	1	2	0	1	1	1	4	3	3	3	2	3	1	2	2	3	3	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr17:27903140C>T	ENST00000225394.3	-	15	1869	c.1621G>A	c.(1621-1623)Gac>Aac	p.D541N	GIT1_ENST00000394869.3_Missense_Mutation_p.D550N|GIT1_ENST00000581348.1_Missense_Mutation_p.D550N|GIT1_ENST00000579937.1_Missense_Mutation_p.D541N|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	541					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		ATGGCGTCGTCCTCTAGCTCC	0.607													22	54					0	0	0	0	T	27903140	C	T	27903140	3	4	44	1	0	0	0	0	1	0	0	0	6447	855	30	2	688	2	GIT1	17	27903140	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	834590	27903140	53292070	79	8420											
BZRAP1	9256	broad.mit.edu	37	chr17	56386380	56386380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggatctggaggccgcctgCggcttgggggcttctcaggg	3	8	20	10	2	2	0	1	0	2	0	3	2	2	2	2	8	1	2	2	8	0	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr17:56386380C>T	ENST00000355701.3	-	22	5123	c.4253G>A	c.(4252-4254)cGc>cAc	p.R1418H	BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1418H|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1358H	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1418						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGCCGCCTGCGGCTTGGGGG	0.662													5	129					0	0	0	0	T	56386380	C	T	56386380	3	4	44	1	0	0	0	0	1	0	0	0	1586	768	27	1	1360	1	BZRAP1	17	56386380	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	28483240	56386380	24808830	80	8421											
ASXL3	80816	broad.mit.edu	37	chr18	31320328	31320328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggatagaagatgatcagtCaacccggaacatatcatcta	16	9	8	8	1	4	3	3	1	1	2	4	5	4	5	1	2	2	0	1	2	7	4			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr18:31320328C>T	ENST00000269197.5	+	11	2960	c.2960C>T	c.(2959-2961)tCa>tTa	p.S987L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	987					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GATGATCAGTCAACCCGGAAC	0.423													3	8					0	0	0	0	T	31320328	C	T	31320328	3	4	44	1	0	0	0	0	1	0	0	0	1072	838	29	2	3002	2	ASXL3	18	31320328	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08		31320328	46756920	81	8422											
KDSR	2531	broad.mit.edu	37	chr18	61027014	61027014	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaatttctttctttgcctgCagcagcttatcctgaaagca	9	15	6	11	0	3	1	1	1	2	0	4	1	4	1	2	0	5	4	2	0	3	4			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr18:61027014C>A	ENST00000406396.3	-	3	601	c.210G>T	c.(208-210)ctG>ctT	p.L70L	KDSR_ENST00000326575.5_Silent_p.L70L	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	70					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						TCTTTGCCTGCAGCAGCTTAT	0.348													6	28					1	1	1	0	A	61027014	C	A	61027014	2	1	44	1	0	0	0	0	0	0	0	1	8192	697	25	4		4	KDSR	18	61027014	Silent	SNP	C	TCGA-BB-7863-01A-11D-2229-08	29706686	61027014	17050234	82	8423											
GALR1	2587	broad.mit.edu	37	chr18	74962637	74962637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgttcggcctgatcttcGcgctgggtgtgctgggcaac	3	12	16	10	3	1	1	0	1	1	0	3	1	1	1	1	4	2	4	1	4	1	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr18:74962637G>A	ENST00000299727.3	+	1	133	c.133G>A	c.(133-135)Gcg>Acg	p.A45T		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	45					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCTGATCTTCGCGCTGGGTGT	0.682													12	20					0	0	0	0	A	74962637	G	A	74962637	3	1	44	1	0	0	0	0	1	0	0	0	6276	1087	38	1	135	1	GALR1	18	74962637	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	13935623	74962637	3114611	83	8424											
SLC39A3	29985	broad.mit.edu	37	chr19	2737060	2737060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttaccttttccctcacagCgggcagcagagcgttgaagc	8	9	10	14	2	1	2	1	1	0	1	2	2	2	2	3	1	5	3	3	1	2	4			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:2737060C>T	ENST00000455372.2	-	2	401	c.196G>A	c.(196-198)Gct>Act	p.A66T	AC006538.4_ENST00000586572.1_Missense_Mutation_p.A66T|SLC39A3_ENST00000545664.1_Missense_Mutation_p.A66T|SLC39A3_ENST00000269740.4_Missense_Mutation_p.A66T	NM_213568.1	NP_998733.1	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	66						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		TCCCTCACAGCGGGCAGCAGA	0.542													5	22					0	0	0	0	T	2737060	C	T	2737060	3	4	44	1	0	0	0	0	1	0	0	0	14707	768	27	1	864	1	SLC39A3	19	2737060	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08		2737060	56391923	84	8425											
CCDC94	55702	broad.mit.edu	37	chr19	4267682	4267682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgttggcagcctgggcagccGgcccccgctgtcgaggctgg	3	6	17	15	4	0	0	0	0	0	0	1	1	0	0	4	5	2	5	4	5	0	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:4267682G>A	ENST00000262962.7	+	7	838	c.770G>A	c.(769-771)cGg>cAg	p.R257Q		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	257										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CTGGGCAGCCGGCCCCCGCTG	0.682											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	41					0	0	0	0	A	4267682	G	A	4267682	3	1	44	1	0	0	0	0	1	0	0	0	2900	1116	39	1	796	1	CCDC94	19	4267682	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	1530622	4267682	54861301	85	8426											
C3	718	broad.mit.edu	37	chr19	6696608	6696608	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgcagccgactcaccacgGcccaggcgttctggatccag	7	6	11	17	3	2	0	1	0	1	0	3	2	3	1	5	3	2	2	5	3	0	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:6696608G>A	ENST00000245907.6	-	22	2951	c.2859C>T	c.(2857-2859)ggC>ggT	p.G953G		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	953					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACTCACCACGGCCCAGGCGTT	0.597													72	187					0	0	0	0	A	6696608	G	A	6696608	2	1	44	1	0	0	0	0	0	0	0	1	2224	1190	42	4		4	C3	19	6696608	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08	2428926	6696608	52432375	86	8427											
KANK3	256949	broad.mit.edu	37	chr19	8398911	8398911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccccgccgctgtcatccccgGagcccgaggagctacccggg	5	4	13	19	5	1	0	1	0	0	0	2	3	2	2	7	3	3	2	7	3	1	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:8398911G>A	ENST00000330915.3	-	5	1582	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	KANK3_ENST00000593649.1_Missense_Mutation_p.S506F	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	506										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GTCATCCCCGGAGCCCGAGGA	0.741													3	1					0	0	0	0	A	8398911	G	A	8398911	3	1	44	1	0	0	0	0	1	0	0	0	8031	1174	41	2	976	2	KANK3	19	8398911	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	1702303	8398911	50730072	87	8428											
CYP4F11	57834	broad.mit.edu	37	chr19	16025591	16025591	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggggatgacgcggccGtctgggagcacaaagtcctg	7	8	15	11	3	1	1	0	1	1	0	2	3	2	3	3	4	1	1	3	4	1	1	rs150098509	byFrequency	TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:16025591G>A	ENST00000326742.7	-	9	1231	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	CYP4F11_ENST00000402119.3_Silent_p.D410D|CYP4F11_ENST00000248041.7_Silent_p.D410D			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	410					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGACGCGGCCGTCTGGGAGCA	0.637													23	72					0	0	0	0	A	16025591	G	A	16025591	2	1	44	1	0	0	0	0	0	0	0	1	4218	1136	40	1		1	CYP4F11	19	16025591	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08	7626680	16025591	43103392	88	8429											
ZNF536	9745	broad.mit.edu	37	chr19	31038996	31038996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatcaagaccacaaggatGagatgtcaagcaaagcttct	17	7	8	9	0	3	2	2	1	1	2	3	4	3	3	1	1	2	2	1	1	5	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:31038996G>A	ENST00000355537.3	+	4	2617	c.2470G>A	c.(2470-2472)Gag>Aag	p.E824K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	824					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCACAAGGATGAGATGTCAAG	0.562													19	107					0	0	0	0	A	31038996	G	A	31038996	3	1	44	1	0	0	0	0	1	0	0	0	18069	1291	45	2	2480	2	ZNF536	19	31038996	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	15013405	31038996	28089987	89	8430											
TSHZ3	57616	broad.mit.edu	37	chr19	31769879	31769879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagtacatgcacttcagcaCcttctgggcgtcttccttcc	7	12	7	15	1	3	0	1	0	2	0	5	0	5	0	3	1	3	3	3	1	1	5			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:31769879C>T	ENST00000240587.4	-	2	1147	c.820G>A	c.(820-822)Gtg>Atg	p.V274M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	274					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CACTTCAGCACCTTCTGGGCG	0.507													35	101					0	0	0	0	T	31769879	C	T	31769879	3	4	44	1	0	0	0	0	1	0	0	0	16720	507	18	4	2429	4	TSHZ3	19	31769879	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	730883	31769879	27359104	90	8431											
LRP3	4037	broad.mit.edu	37	chr19	33698014	33698014	+	Frame_Shift_Del	DEL	C	C	-																															accggctctttcaccggccgCgggcgccccgaggccagatc																										TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:33698014delC	ENST00000253193.7	+	7	2048	c.1846delC	c.(1846-1848)ggfs	p.R616fs		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	616					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TCACCGGCCGCGGGCGCCCCG	0.746													2	4	---	---	---	---					-	33698014	C	-	33698014	7	5	44	1	0	1	0	1	0	0	0	0	9022	759	27	0	1872	0	LRP3	19	33698014	Frame_Shift_Del	DEL	C	TCGA-BB-7863-01A-11D-2229-08	1928135	33698014	25430969	91	8432											
ZNF527	84503	broad.mit.edu	37	chr19	37879456	37879456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaatgaatttagtaattctGggagaagcatacccctgaaa	16	10	8	7	0	1	3	0	2	1	1	1	4	1	3	2	1	2	2	2	1	7	5			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:37879456G>T	ENST00000436120.2	+	5	612	c.505G>T	c.(505-507)Ggg>Tgg	p.G169W	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGTAATTCTGGGAGAAGCAT	0.373													7	62					1.06961e-07	1.12015e-07	1	0	T	37879456	G	T	37879456	3	4	44	1	0	0	0	0	1	0	0	0	18063	1348	47	4	519	4	ZNF527	19	37879456	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	4181442	37879456	21249527	92	8433											
SIGLEC9	27180	broad.mit.edu	37	chr19	51633177	51633177	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaaccttgggcagaagaCagtcccccagaccagcctcc	11	5	9	16	0	0	4	0	1	0	3	2	4	2	4	6	1	2	1	6	1	2	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:51633177C>T	ENST00000250360.3	+	7	1300	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	411					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGGCAGAAGACAGTCCCCCAG	0.602													50	67					0	0	0	0	T	51633177	C	T	51633177	2	4	44	1	0	0	0	0	0	0	0	1	14403	477	17	4		4	SIGLEC9	19	51633177	Silent	SNP	C	TCGA-BB-7863-01A-11D-2229-08	13753721	51633177	7495806	93	8434											
ZNF765	91661	broad.mit.edu	37	chr19	53911920	53911920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtcggaagtcacattttaCatgccatcatagagttcata	13	13	7	8	1	3	1	3	0	0	1	4	2	3	2	1	1	2	1	1	1	5	6			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:53911920C>A	ENST00000396408.3	+	4	1229	c.1112C>A	c.(1111-1113)aCa>aAa	p.T371K	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TCACATTTTACATGCCATCAT	0.413													31	109					1.39806e-14	1.49953e-14	1	0	A	53911920	C	A	53911920	3	1	44	1	0	0	0	0	1	0	0	0	18233	478	17	4	1122	4	ZNF765	19	53911920	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	2278743	53911920	5217063	94	8435											
NLRP12	91662	broad.mit.edu	37	chr19	54299186	54299186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacctgtgtcccctagggCgttgttggtcaggtaaaggt	7	11	14	9	1	1	0	1	0	0	0	2	1	2	0	3	4	0	3	3	4	3	4			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:54299186C>T	ENST00000324134.6	-	9	3193	c.3025G>A	c.(3025-3027)Gcc>Acc	p.A1009T	NLRP12_ENST00000391775.3_Missense_Mutation_p.A952T|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391773.1_Missense_Mutation_p.A1010T|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000351894.4_Missense_Mutation_p.A897T|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000345770.5_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1009					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCCCTAGGGCGTTGTTGGTC	0.557													14	18					0	0	0	0	T	54299186	C	T	54299186	3	4	44	1	0	0	0	0	1	0	0	0	10544	768	27	1	168	1	NLRP12	19	54299186	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	387266	54299186	4829797	95	8436											
ZNF341	84905	broad.mit.edu	37	chr20	32378906	32378906	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttccgctgtgctggctgCgccaagggcttttcccgcca	5	10	12	14	3	0	0	0	0	0	0	2	0	2	0	4	2	2	5	4	2	2	3	rs61734271	byFrequency	TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr20:32378906C>T	ENST00000375200.1	+	15	2513	c.2148C>T	c.(2146-2148)tgC>tgT	p.C716C	RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Silent_p.C709C			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	716					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GTGCTGGCTGCGCCAAGGGCT	0.637													7	39					0	0	0	0	T	32378906	C	T	32378906	2	4	44	1	0	0	0	0	0	0	0	1	17952	776	27	1		1	ZNF341	20	32378906	Silent	SNP	C	TCGA-BB-7863-01A-11D-2229-08		32378906	30646614	96	8437											
EIF2S2	8894	broad.mit.edu	37	chr20	32677659	32677661	+	In_Frame_Del	DEL	CTT	CTT	-																															aggaaatagagtcgtgtgtcCttctgcaggattgtgtccgg																										TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr20:32677659_32677661delCTT	ENST00000374980.2	-	9	1098_1100	c.877_879delAAG	c.(877-879)del	p.K293del		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	293						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						GTCGTGTGTCCTTCTGCAGGATT	0.488													20	61	---	---	---	---					-	32677661	CTT	-	32677659	7	5	44	1	0	1	0	1	0	0	0	0	5046	680	24	0	126	0	EIF2S2	20	32677659	In_Frame_Del	DEL	CTT	TCGA-BB-7863-01A-11D-2229-08	298753	32677659	30347861	97	8438											
MC3R	4159	broad.mit.edu	37	chr20	54824200	54824200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccatcatgatcgccatcGtccacagcgactacctgacc	11	7	7	16	3	1	3	1	2	0	1	4	4	2	3	5	0	2	0	5	0	1	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr20:54824200G>A	ENST00000243911.2	+	1	413	c.301G>A	c.(301-303)Gtc>Atc	p.V101I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	138					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GATCGCCATCGTCCACAGCGA	0.552													15	39					0	0	0	0	A	54824200	G	A	54824200	3	1	44	1	0	0	0	0	1	0	0	0	9434	1145	40	1	303	1	MC3R	20	54824200	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	22146541	54824200	8201320	98	8439											
STMN3	50861	broad.mit.edu	37	chr20	62273563	62273565	+	In_Frame_Del	DEL	GTT	GTT	-																															tcctccgcctggcggctgaaGttgttattctcctccagcgc																										TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr20:62273563_62273565delGTT	ENST00000370053.1	-	4	460_462	c.379_381delAAC	c.(379-381)del	p.N127del	STMN3_ENST00000540534.1_In_Frame_Del_p.N116del	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	127					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			GGCGGCTGAAGTTGTTATTCTCC	0.67													8	18	---	---	---	---					-	62273565	GTT	-	62273563	7	5	44	1	0	1	0	1	0	0	0	0	15400	1020	36	0	169	0	STMN3	20	62273563	In_Frame_Del	DEL	GTT	TCGA-BB-7863-01A-11D-2229-08	7449363	62273563	751957	99	8440											
RTEL1	51750	broad.mit.edu	37	chr20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcttctaccagtttgtgCggccccaccataagcagcag	9	8	10	14	1	1	0	0	0	1	0	1	0	1	0	4	2	4	4	4	2	2	4			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr20:62324513C>T	ENST00000318100.4	+	30	3696	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	957					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597													4	166					0	0	0	0	T	62324513	C	T	62324513	3	4	44	1	0	0	0	0	1	0	0	0	13805	759	27	1	2983	1	RTEL1	20	62324513	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	50950	62324513	701007	100	8441											
UMODL1	89766	broad.mit.edu	37	chr21	43524101	43524101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcaccgtgcaggaccccGggtttcccatgggcatctcc	6	8	11	16	2	2	0	1	0	1	0	4	1	3	1	5	3	2	4	5	3	0	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr21:43524101G>A	ENST00000400427.1	+	9	1603	c.1207G>A	c.(1207-1209)Ggg>Agg	p.G403R	UMODL1_ENST00000408989.2_Missense_Mutation_p.G475R|C21orf128_ENST00000329015.2_Silent_p.P44P|UMODL1_ENST00000408910.2_Missense_Mutation_p.G475R|UMODL1_ENST00000400424.1_Missense_Mutation_p.G403R	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	475	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCAGGACCCCGGGTTTCCCAT	0.602													28	126					0	0	0	0	A	43524101	G	A	43524101	3	1	44	1	0	0	0	0	1	0	0	0	17076	1116	39	1	1457	1	UMODL1	21	43524101	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08		43524101	4605794	101	8442											
CABIN1	23523	broad.mit.edu	37	chr22	24463009	24463009	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggctgtatgaagcaggCgactacaaggctgttgtgca	10	8	14	9	2	0	1	0	1	0	0	0	2	0	1	0	3	4	6	0	3	4	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr22:24463009C>G	ENST00000398319.2	+	16	2494	c.2109C>G	c.(2107-2109)ggC>ggG	p.G703G	CABIN1_ENST00000263119.5_Silent_p.G703G|CABIN1_ENST00000405822.2_Silent_p.G653G	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	703					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGAAGCAGGCGACTACAAGG	0.547													5	45					0	0	0	0	G	24463009	C	G	24463009	2	3	44	1	0	0	0	0	0	0	0	1	2553	755	27	3		3	CABIN1	22	24463009	Silent	SNP	C	TCGA-BB-7863-01A-11D-2229-08		24463009	26841557	102	8443											
SEC14L2	23541	broad.mit.edu	37	chr22	30803413	30803413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttgcccaggtgatccaaCagtatctgtcagggggtatg	8	12	12	9	0	3	1	1	1	2	0	4	1	4	1	2	3	2	2	2	3	3	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr22:30803413C>A	ENST00000312932.9	+	5	504	c.244C>A	c.(244-246)Cag>Aag	p.Q82K	SEC14L2_ENST00000405717.3_Missense_Mutation_p.Q82K|SEC14L2_ENST00000402592.3_Intron|SEC14L2_ENST00000403484.1_Missense_Mutation_p.Q8K|SEC14L2_ENST00000459728.1_3'UTR	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	82	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GGTGATCCAACAGTATCTGTC	0.542													43	177					3.76604e-16	4.07222e-16	1	0	A	30803413	C	A	30803413	3	1	44	1	0	0	0	0	1	0	0	0	14069	479	17	4	262	4	SEC14L2	22	30803413	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	6340404	30803413	20501153	103	8444											
DEPDC5	9681	broad.mit.edu	37	chr22	32154558	32154558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctagttgtgaaccccaaaGtgttccctcacatcaagctt	11	11	7	12	0	2	1	2	1	0	0	3	1	3	1	3	0	3	4	3	0	4	4			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr22:32154558G>A	ENST00000400246.1	+	3	227	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	DEPDC5_ENST00000382105.2_Missense_Mutation_p.V29M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V29M|DEPDC5_ENST00000382112.3_Missense_Mutation_p.V29M|DEPDC5_ENST00000536766.1_Missense_Mutation_p.V29M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V29M|DEPDC5_ENST00000400242.3_Missense_Mutation_p.V29M|DEPDC5_ENST00000535622.1_Missense_Mutation_p.V29M|DEPDC5_ENST00000400248.1_Missense_Mutation_p.V29M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V29M			O75140	DEPD5_HUMAN	DEP domain containing 5	29					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAACCCCAAAGTGTTCCCTCA	0.438													17	37					0	0	0	0	A	32154558	G	A	32154558	3	1	44	1	0	0	0	0	1	0	0	0	4479	1029	36	4	91	4	DEPDC5	22	32154558	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	1351145	32154558	19150008	104	8445											
TRIOBP	11078	broad.mit.edu	37	chr22	38154058	38154058	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccctgcgggagaataaGcgggtgcccctcactgccct	6	7	12	16	2	1	1	1	0	0	1	1	2	1	1	5	2	5	0	5	2	2	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr22:38154058G>A	ENST00000406386.3	+	16	6381	c.6126G>A	c.(6124-6126)aaG>aaA	p.K2042K	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Silent_p.K329K|TRIOBP_ENST00000403663.2_Silent_p.K329K	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2042					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					GGGAGAATAAGCGGGTGCCCC	0.652													5	35					0	0	0	0	A	38154058	G	A	38154058	2	1	44	1	0	0	0	0	0	0	0	1	16648	962	34	4		4	TRIOBP	22	38154058	Silent	SNP	G	TCGA-BB-7863-01A-11D-2229-08	5999500	38154058	13150508	105	8446											
EP300	2033	broad.mit.edu	37	chr22	41546092	41546092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtgcagccttcacttcctGctgcaccttctgctgaccag	7	11	8	15	0	2	1	1	1	1	0	3	1	3	1	4	0	5	4	4	0	1	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr22:41546092G>A	ENST00000263253.7	+	14	3926	c.2707G>A	c.(2707-2709)Gct>Act	p.A903T		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	903					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTCACTTCCTGCTGCACCTTC	0.617			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				10	26					0	0	0	0	A	41546092	G	A	41546092	3	1	44	1	0	0	0	0	1	0	0	0	5186	1319	46	4	2761	4	EP300	22	41546092	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	3392034	41546092	9758474	106	8447											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659169	50659169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttccaccgtggccgggtggGagccatgtctgacacagact	7	8	14	12	2	1	2	0	1	1	1	2	3	2	3	4	3	1	1	4	3	0	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr22:50659169G>A	ENST00000439308.2	-	16	4111	c.3619C>T	c.(3619-3621)Ccc>Tcc	p.P1207S	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.P1207S|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1207	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGCCGGGTGGGAGCCATGTCT	0.622													11	48					0	0	0	0	A	50659169	G	A	50659169	3	1	44	1	0	0	0	0	1	0	0	0	16866	1174	41	2	1880	2	TUBGCP6	22	50659169	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	9113077	50659169	645397	107	8448											
LMF2	91289	broad.mit.edu	37	chr22	50943408	50943408	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgggctccacgtaggagtaCggcacctggagacaggtggg	8	5	17	11	3	0	1	0	0	0	1	1	3	1	2	3	6	1	4	3	6	2	2	rs139453267		TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr22:50943408C>T	ENST00000216080.5	-	10	1353	c.1185G>A	c.(1183-1185)ccG>ccA	p.P395P	LMF2_ENST00000474879.2_Silent_p.P420P|LMF2_ENST00000380796.3_Intron			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	420						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTAGGAGTACGGCACCTGGA	0.687													10	26					0	0	0	0	T	50943408	C	T	50943408	2	4	44	1	0	0	0	0	0	0	0	1	8901	523	19	1		1	LMF2	22	50943408	Silent	SNP	C	TCGA-BB-7863-01A-11D-2229-08	284239	50943408	361158	108	8449											
CCDC120	90060	broad.mit.edu	37	chrX	48925109	48925109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggactattccttggaccggGgcctgccccgcagtggcggt	4	9	15	13	3	0	0	0	0	0	0	1	2	1	2	5	6	1	1	5	6	1	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chrX:48925109G>A	ENST00000376396.3	+	10	1573	c.1354G>A	c.(1354-1356)Ggc>Agc	p.G452S	CCDC120_ENST00000536628.2_Missense_Mutation_p.G440S|CCDC120_ENST00000496529.2_Missense_Mutation_p.G452S|CCDC120_ENST00000422185.2_Missense_Mutation_p.G452S|CCDC120_ENST00000603986.1_Missense_Mutation_p.G487S|CCDC120_ENST00000597275.1_Missense_Mutation_p.G452S	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	452	Pro-rich.						protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CTTGGACCGGGGCCTGCCCCG	0.716													12	41					0	0	0	0	A	48925109	G	A	48925109	3	1	44	1	0	0	0	0	1	0	0	0	2781	1232	43	4	1384	4	CCDC120	23	48925109	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08		48925109	106345451	109	8450											
TAF1	6872	broad.mit.edu	37	chrX	70617101	70617101	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttttctacctaccttgcAgcagcaggctcagcagcatc	9	11	7	14	0	3	0	1	0	2	0	4	0	3	0	2	1	7	6	2	1	2	5			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chrX:70617101A>T	ENST00000449580.1	+	23	3454		c.e23-1		TAF1_ENST00000423759.1_Splice_Site|TAF1_ENST00000373790.4_Splice_Site|TAF1_ENST00000276072.3_Splice_Site			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa						G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCTACCTTGCAGCAGCAGGCT	0.453													7	25					0	0	0	0	T	70617101	A	T	70617101	5	4	44	1	0	0	0	0	0	0	1	0	15604	202	7	5	3555	5	TAF1	23	70617101	Splice_Site	SNP	A	TCGA-BB-7863-01A-11D-2229-08	21691992	70617101	84653459	110	8451											
CPXCR1	53336	broad.mit.edu	37	chrX	88008652	88008652	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacagagatccaaaaagaTcaacgagaagaagatctaaa	23	4	8	6	1	2	5	1	0	1	5	3	8	3	5	1	0	2	0	1	0	8	1			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chrX:88008652T>A	ENST00000276127.4	+	3	496	c.237T>A	c.(235-237)gaT>gaA	p.D79E	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D79E	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	79						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCCAAAAAGATCAACGAGAAG	0.458													4	24					0	0	0	0	A	88008652	T	A	88008652	3	1	44	1	0	0	0	0	1	0	0	0	3866	1432	50	5	239	5	CPXCR1	23	88008652	Missense_Mutation	SNP	T	TCGA-BB-7863-01A-11D-2229-08	17391551	88008652	67261908	111	8452											
TSC22D3	1831	broad.mit.edu	37	chrX	106960004	106960004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgtgcagctggtagaccGccacctccatgggggtctga	8	9	13	11	1	1	2	0	1	1	1	2	2	2	2	4	3	2	3	4	3	2	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chrX:106960004G>A	ENST00000372397.2	-	1	361	c.38C>T	c.(37-39)gCg>gTg	p.A13V	TSC22D3_ENST00000372383.4_Intron|TSC22D3_ENST00000315660.4_Intron|TSC22D3_ENST00000372382.4_Intron|TSC22D3_ENST00000372384.2_Intron|TSC22D3_ENST00000514426.1_Intron|TSC22D3_ENST00000506081.1_Intron	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	13	AP1-binding (By similarity).						sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						CTGGTAGACCGCCACCTCCAT	0.602													4	106					0	0	0	0	A	106960004	G	A	106960004	3	1	44	1	0	0	0	0	1	0	0	0	16704	1087	38	1	378	1	TSC22D3	23	106960004	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	18951352	106960004	48310556	112	8453											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959418	117959418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgacccaagtcaatggcGtcctgccagattggaatatg	10	9	12	10	1	1	2	1	1	0	1	2	3	2	3	3	3	1	1	3	3	4	2			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chrX:117959418G>A	ENST00000310164.2	+	4	718	c.211G>A	c.(211-213)Gtc>Atc	p.V71I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.V71I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557													33	86					0	0	0	0	A	117959418	G	A	117959418	3	1	44	1	0	0	0	0	1	0	0	0	17676	1145	40	1	213	1	ZCCHC12	23	117959418	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	10999414	117959418	37311142	113	8454											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298805	125298805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagagcagggaaccatggCcggtgcccacagtgatgatg	12	5	15	9	1	0	4	0	2	0	2	0	5	0	5	3	3	3	1	3	3	2	0			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chrX:125298805C>T	ENST00000538699.1	-	2	1183	c.1103G>A	c.(1102-1104)gGc>gAc	p.G368D	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G368D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	368										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGAACCATGGCCGGTGCCCAC	0.652													35	82					0	0	0	0	T	125298805	C	T	125298805	3	4	44	1	0	0	0	0	1	0	0	0	4298	739	26	4	292	4	DCAF12L2	23	125298805	Missense_Mutation	SNP	C	TCGA-BB-7863-01A-11D-2229-08	7339387	125298805	29971755	114	8455											
GABRQ	55879	broad.mit.edu	37	chrX	151815526	151815526	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgagaagttgtgggtccctGactgctactttctgaacagc	9	12	11	9	0	1	3	0	3	1	1	2	4	2	3	1	1	4	2	1	1	3	3			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chrX:151815526G>C	ENST00000370306.2	+	4	444	c.424G>C	c.(424-426)Gac>Cac	p.D142H		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	142						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGTCCCTGACTGCTACTT	0.488													17	69					0	0	0	0	C	151815526	G	C	151815526	3	2	44	1	0	0	0	0	1	0	0	0	6223	1290	45	2	438	2	GABRQ	23	151815526	Missense_Mutation	SNP	G	TCGA-BB-7863-01A-11D-2229-08	26516721	151815526	3455034	115	8456											
VPS13D	55187	broad.mit.edu	37	chr1	12321060	12321060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtccgggagccccagaacCcggtggaggcagtgggatgc	7	5	17	12	2	0	1	0	0	0	1	1	4	1	4	4	5	3	1	4	5	1	0			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:12321060C>T	ENST00000358136.3	+	12	1398	c.1268C>T	c.(1267-1269)cCc>cTc	p.P423L	VPS13D_ENST00000356315.4_Missense_Mutation_p.P423L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	423					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCCCCAGAACCCGGTGGAGGC	0.562													62	119					0	0	0	0	T	12321060	C	T	12321060	3	4	45	1	0	0	0	0	1	0	0	0	17288	623	22	4	1310	4	VPS13D	1	12321060	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08		12321060	236929561	1	8457											
PRAMEF6	440561	broad.mit.edu	37	chr1	13001202	13001202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggcaggtgaggtattcatCcagagtcctgttcttgagcc	8	11	13	9	0	2	3	1	2	1	1	4	4	4	3	3	3	1	3	3	3	1	4			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:13001202C>T	ENST00000376189.1	-	3	580	c.481G>A	c.(481-483)Gat>Aat	p.D161N	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.D161N	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	161										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTATTCATCCAGAGTCCTG	0.483													25	230					0	0	0	0	T	13001202	C	T	13001202	3	4	45	1	0	0	0	0	1	0	0	0	12517	855	30	2	957	2	PRAMEF6	1	13001202	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	680142	13001202	236249419	2	8458											
CELA2A	63036	broad.mit.edu	37	chr1	15793937	15793937	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggccggtggcaggtgcaCggcatcgtcagcttcgggtc	5	7	17	12	5	1	0	1	0	0	0	4	1	1	0	1	6	2	4	1	6	0	1			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:15793937C>T	ENST00000359621.4	+	7	721	c.696C>T	c.(694-696)caC>caT	p.H232H	CELA2B_ENST00000494280.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	232	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GGCAGGTGCACGGCATCGTCA	0.592													24	50					0	0	0	0	T	15793937	C	T	15793937	2	4	45	1	0	0	0	0	0	0	0	1	3240	535	19	1		1	CELA2A	1	15793937	Silent	SNP	C	TCGA-BB-7864-01A-11D-2229-08	2792735	15793937	233456684	3	8459											
MACF1	23499	broad.mit.edu	37	chr1	39775248	39775248	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgttatttctagggtcgaAcaatcttatcagaaggttat	11	16	9	5	1	3	1	1	0	2	1	4	2	3	1	0	2	1	2	0	2	7	5			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:39775248A>C	ENST00000564288.1	+	24	3573	c.2796A>C	c.(2794-2796)gaA>gaC	p.E932D	MACF1_ENST00000317713.7_Missense_Mutation_p.E937D|MACF1_ENST00000567887.1_Missense_Mutation_p.E969D|MACF1_ENST00000372915.3_Missense_Mutation_p.E937D|MACF1_ENST00000361689.2_Missense_Mutation_p.E937D|MACF1_ENST00000539005.1_Missense_Mutation_p.E937D|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.E937D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	937					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTAGGGTCGAACAATCTTATC	0.408													28	53					0	0	0	0	C	39775248	A	C	39775248	3	2	45	1	0	0	0	0	1	0	0	0	9209	40	2	5	2901	5	MACF1	1	39775248	Missense_Mutation	SNP	A	TCGA-BB-7864-01A-11D-2229-08	23981311	39775248	209475373	4	8460											
PRKAB2	5565	broad.mit.edu	37	chr1	146639477	146639477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacggagtcctccaaatcCtgctgccatgatacaaactc	11	11	6	13	1	0	1	0	1	0	0	4	2	3	2	4	1	5	1	4	1	4	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:146639477C>A	ENST00000254101.3	-	3	330	c.192G>T	c.(190-192)caG>caT	p.Q64H	PRKAB2_ENST00000425272.2_Intron	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	64					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm		p.Q64Q(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	CCTCCAAATCCTGCTGCCATG	0.507													6	274					0.00116845	0.0011895	1	0	A	146639477	C	A	146639477	3	1	45	1	0	0	0	0	1	0	0	0	12576	680	24	4	650	4	PRKAB2	1	146639477	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	106864229	146639477	102611144	5	8461											
UBE2Q1	55585	broad.mit.edu	37	chr1	154528354	154528360	+	Frame_Shift_Del	DEL	TATGTCC	TATGTCC	-																															accagagtattccctttcttTatgtccaccagcctctccaa																										TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:154528354_154528360delTATGTCC	ENST00000292211.4	-	2	487_493	c.408_414delGGACATA	c.(406-414)gtfs	p.VDI136fs	UBE2Q1_ENST00000497453.1_5'UTR	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	136							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCCTTTCTTTATGTCCACCAGCCTCT	0.522													9	51	---	---	---	---					-	154528360	TATGTCC	-	154528354	7	5	45	1	0	1	0	1	0	0	0	0	16965	1744	61	0	902	0	UBE2Q1	1	154528354	Frame_Shift_Del	DEL	TATGTCC	TCGA-BB-7864-01A-11D-2229-08	7888877	154528354	94722267	6	8462											
APCS	325	broad.mit.edu	37	chr1	159558139	159558139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagttacatccaaagttatcGaaaagttcccggctccagtg	13	10	8	10	2	0	0	0	0	0	0	4	1	3	0	3	1	1	4	3	1	6	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:159558139G>A	ENST00000255040.2	+	2	410	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	105	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CAAAGTTATCGAAAAGTTCCC	0.423													22	48					0	0	0	0	A	159558139	G	A	159558139	3	1	45	1	0	0	0	0	1	0	0	0	768	1059	37	1	319	1	APCS	1	159558139	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	5029785	159558139	89692482	7	8463											
ITLN2	142683	broad.mit.edu	37	chr1	160920896	160920896	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagttggcccagttgccAtccccctctgggtagtctgc	4	13	11	13	0	2	0	0	0	2	0	3	0	3	0	4	2	2	4	4	2	2	5			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:160920896A>G	ENST00000368029.3	-	4	435	c.378T>C	c.(376-378)gaT>gaC	p.D126D		NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	126	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCCAGTTGCCATCCCCCTCTG	0.587													14	71					0	0	0	0	G	160920896	A	G	160920896	2	3	45	1	0	0	0	0	0	0	0	1	7964	214	8	5		5	ITLN2	1	160920896	Silent	SNP	A	TCGA-BB-7864-01A-11D-2229-08	1362757	160920896	88329725	8	8464											
AVPR1B	553	broad.mit.edu	37	chr1	206224583	206224583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccactgtcctggtgctggCgaccgggggcaacctggctg	4	7	17	13	2	0	0	0	0	0	0	1	1	1	0	4	6	2	3	4	6	1	0			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:206224583C>T	ENST00000367126.4	+	1	608	c.143C>T	c.(142-144)gCg>gTg	p.A48V		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	48					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGGTGCTGGCGACCGGGGGC	0.677													45	99					0	0	0	0	T	206224583	C	T	206224583	3	4	45	1	0	0	0	0	1	0	0	0	1236	768	27	1	145	1	AVPR1B	1	206224583	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	45303687	206224583	43026038	9	8465											
SPATA17	128153	broad.mit.edu	37	chr1	217856683	217856683	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtacctgaaagtcgtttcAgagaccaatgatgcaattag	14	10	10	7	1	1	3	1	2	0	1	2	5	1	3	2	0	2	3	2	0	5	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:217856683A>G	ENST00000366933.4	+	5	430	c.375A>G	c.(373-375)tcA>tcG	p.S125S		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	125						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AAGTCGTTTCAGAGACCAATG	0.348													41	78					0	0	0	0	G	217856683	A	G	217856683	2	3	45	1	0	0	0	0	0	0	0	1	15092	175	7	5		5	SPATA17	1	217856683	Silent	SNP	A	TCGA-BB-7864-01A-11D-2229-08	11632100	217856683	31393938	10	8466											
ACTN2	88	broad.mit.edu	37	chr1	236902795	236902795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctgcggatcagcaaccGtcctgccttcatgccctccg	7	8	9	17	3	2	0	2	0	0	0	4	1	4	1	5	1	6	2	5	1	2	1			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:236902795G>A	ENST00000366578.4	+	10	1236	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	ACTN2_ENST00000542672.1_Missense_Mutation_p.R357H|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	357					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATCAGCAACCGTCCTGCCTTC	0.607													9	24					0	0	0	0	A	236902795	G	A	236902795	3	1	45	1	0	0	0	0	1	0	0	0	205	1145	40	1	1108	1	ACTN2	1	236902795	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	19046112	236902795	12347826	11	8467											
SDCCAG8	10806	broad.mit.edu	37	chr1	243504378	243504378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatattgcccaactggaggCccaggtggaaaaggttacaa	14	7	12	8	0	0	0	0	0	0	0	0	3	0	2	2	5	3	1	2	5	7	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:243504378C>T	ENST00000366541.3	+	11	1377	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.A377V|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.A275V	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	420	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CAACTGGAGGCCCAGGTGGAA	0.373													18	48					0	0	0	0	T	243504378	C	T	243504378	3	4	45	1	0	0	0	0	1	0	0	0	14046	739	26	4	1301	4	SDCCAG8	1	243504378	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	6601583	243504378	5746243	12	8468											
CNST	163882	broad.mit.edu	37	chr1	246755211	246755211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaaagaagtccaagaaGcaaaaaagggactgctaaga	21	4	11	5	0	0	3	0	0	0	3	1	5	1	5	1	2	2	2	1	2	9	1			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:246755211G>T	ENST00000366513.4	+	2	616	c.347G>T	c.(346-348)aGc>aTc	p.S116I	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.S116I	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	116					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGTCCAAGAAGCAAAAAAGGG	0.388													8	18					0.000157383	0.000163159	1	0	T	246755211	G	T	246755211	3	4	45	1	0	0	0	0	1	0	0	0	3664	971	34	4	349	4	CNST	1	246755211	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	3250833	246755211	2495410	13	8469											
CCDC85A	114800	broad.mit.edu	37	chr2	56419679	56419679	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtttcctggatgatgAccggcagaaaggcaagaggg	10	8	15	8	1	0	4	0	2	0	2	1	5	1	5	2	4	1	4	2	4	2	1			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:56419679A>T	ENST00000407595.2	+	2	846	c.344A>T	c.(343-345)gAc>gTc	p.D115V	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	115										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGGATGATGACCGGCAGAAA	0.532													60	28					0	0	0	0	T	56419679	A	T	56419679	3	4	45	1	0	0	0	0	1	0	0	0	2886	275	10	5	350	5	CCDC85A	2	56419679	Missense_Mutation	SNP	A	TCGA-BB-7864-01A-11D-2229-08		56419679	186779694	14	8470											
LRP1B	53353	broad.mit.edu	37	chr2	141032097	141032097	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcatagcgcgttggacaGacacattcaacacttccatc	11	10	6	14	2	2	1	2	0	0	1	4	2	3	2	2	1	2	1	2	1	2	5			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:141032097G>C	ENST00000389484.3	-	85	14009	c.13038C>G	c.(13036-13038)gtC>gtG	p.V4346V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4346	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCGTTGGACAGACACATTCAA	0.408										TSP Lung(27;0.18)			35	21					0	0	0	0	C	141032097	G	C	141032097	2	2	45	1	0	0	0	0	0	0	0	1	9019	929	33	2		2	LRP1B	2	141032097	Silent	SNP	G	TCGA-BB-7864-01A-11D-2229-08	84612418	141032097	102167276	15	8471											
NEB	4703	broad.mit.edu	37	chr2	152468860	152468860	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagagccaatgggaaccCatcctatgcctctcagccac	11	7	7	16	0	1	1	1	0	1	1	3	2	2	2	5	1	5	0	5	1	4	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:152468860C>A	ENST00000397345.3	-	78	11847	c.11645G>T	c.(11644-11646)tGg>tTg	p.W3882L	NEB_ENST00000409198.1_Missense_Mutation_p.W3639L|NEB_ENST00000603639.1_Missense_Mutation_p.W3882L|NEB_ENST00000604864.1_Missense_Mutation_p.W3882L|NEB_ENST00000172853.10_Missense_Mutation_p.W3639L|NEB_ENST00000427231.2_Missense_Mutation_p.W3882L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3882					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATGGGAACCCATCCTATGCC	0.458													34	8					1.03484e-13	1.20553e-13	1	0	A	152468860	C	A	152468860	3	1	45	1	0	0	0	0	1	0	0	0	10372	595	21	4	14461	4	NEB	2	152468860	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	11436763	152468860	90730513	16	8472											
TTN	7273	broad.mit.edu	37	chr2	179456400	179456400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgttttcagcttttacaCggaatctataggtctttcct	9	17	6	9	1	3	0	1	0	2	0	4	1	4	1	1	2	2	2	1	2	5	7			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:179456400C>T	ENST00000589042.1	-	303	60370	c.60146G>A	c.(60145-60147)cGt>cAt	p.R20049H	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18408H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11176H|TTN_ENST00000359218.5_Missense_Mutation_p.R11109H|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R10984H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17481H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18408	Fibronectin type-III 45.						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)			AGCTTTTACACGGAATCTATA	0.398													121	64					0	0	0	0	T	179456400	C	T	179456400	3	4	45	1	0	0	0	0	1	0	0	0	16831	536	19	1	48073	1	TTN	2	179456400	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	26987540	179456400	63742973	17	8473											
TMEFF2	23671	broad.mit.edu	37	chr2	192818509	192818509	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggaccgggaacaacgtaTagaacactgtagtccttttt	13	10	9	9	2	0	1	0	0	0	1	1	3	1	3	2	2	3	2	2	2	6	5			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:192818509T>C	ENST00000392314.1	-	9	1315	c.924A>G	c.(922-924)ctA>ctG	p.L308L	TMEFF2_ENST00000272771.5_Silent_p.L308L|AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	308	Required for shedding.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GAACAACGTATAGAACACTGT	0.443													43	16					0	0	0	0	C	192818509	T	C	192818509	2	2	45	1	0	0	0	0	0	0	0	1	16108	1393	49	5		5	TMEFF2	2	192818509	Silent	SNP	T	TCGA-BB-7864-01A-11D-2229-08	13362109	192818509	50380864	18	8474											
FN1	2335	broad.mit.edu	37	chr2	216246973	216246973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggctgactctctccgCttggattctgagcatagaca	9	10	10	12	1	2	4	0	2	2	2	4	5	3	5	2	2	1	3	2	2	1	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:216246973C>T	ENST00000354785.4	-	32	5495	c.5126G>A	c.(5125-5127)aGc>aAc	p.S1709N	FN1_ENST00000490833.1_5'UTR|FN1_ENST00000446046.1_Missense_Mutation_p.S1618N|FN1_ENST00000443816.1_Missense_Mutation_p.S1618N|FN1_ENST00000432072.2_Missense_Mutation_p.S1709N|FN1_ENST00000421182.1_Missense_Mutation_p.S1618N|FN1_ENST00000359671.1_Missense_Mutation_p.S1618N|FN1_ENST00000357867.4_Missense_Mutation_p.S1618N|FN1_ENST00000357009.2_Missense_Mutation_p.S1618N|FN1_ENST00000356005.4_Missense_Mutation_p.S1618N|FN1_ENST00000346544.3_Missense_Mutation_p.S1618N|FN1_ENST00000345488.5_Missense_Mutation_p.S1618N|FN1_ENST00000336916.4_Missense_Mutation_p.S1618N|FN1_ENST00000323926.6_Missense_Mutation_p.S1709N			P02751	FINC_HUMAN	fibronectin 1	1708	Fibronectin type-III 12; extra domain.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTCTCTCCGCTTGGATTCTG	0.443													23	19					0	0	0	0	T	216246973	C	T	216246973	3	4	45	1	0	0	0	0	1	0	0	0	6007	797	28	4	2367	4	FN1	2	216246973	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	23428464	216246973	26952400	19	8475											
ITPR1	3708	broad.mit.edu	37	chr3	4687340	4687340	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacaggaagaagcagcaCgtcttcctgagaaccacggg	14	4	12	11	2	1	2	0	1	1	2	2	5	2	3	2	2	4	2	2	2	4	1			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr3:4687340C>T	ENST00000302640.8	+	10	1133	c.783C>T	c.(781-783)caC>caT	p.H261H	ITPR1_ENST00000443694.2_Silent_p.H261H|ITPR1_ENST00000354582.6_Silent_p.H261H|ITPR1_ENST00000357086.4_Silent_p.H261H|ITPR1_ENST00000456211.2_Silent_p.H261H|ITPR1_ENST00000423119.2_Silent_p.H261H|ITPR1_ENST00000544951.1_Silent_p.H261H	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	261	MIR 3.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGAAGCAGCACGTCTTCCTGA	0.547													16	10					0	0	0	0	T	4687340	C	T	4687340	2	4	45	1	0	0	0	0	0	0	0	1	7973	535	19	1		1	ITPR1	3	4687340	Silent	SNP	C	TCGA-BB-7864-01A-11D-2229-08		4687340	193335090	20	8476											
PDZRN3	23024	broad.mit.edu	37	chr3	73433271	73433271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataggtaggggtgcccacttCgggatcttccgtgatggaga	8	10	15	8	2	1	2	0	1	1	1	3	4	2	3	2	5	1	1	2	5	2	4			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr3:73433271C>T	ENST00000263666.4	-	10	2560	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K	PDZRN3_ENST00000535920.1_Missense_Mutation_p.E538K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E473K|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E473K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E533K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	816							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTGCCCACTTCGGGATCTTCC	0.662													5	53					0	0	0	0	T	73433271	C	T	73433271	3	4	45	1	0	0	0	0	1	0	0	0	11780	893	31	1	758	1	PDZRN3	3	73433271	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	68745931	73433271	124589159	21	8477											
CPOX	1371	broad.mit.edu	37	chr3	98243871	98243871	+	RNA	DEL	G	G	-																															ctttttttttttttttttttGtattctaatacagttcaaat																										TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr3:98243871delG	ENST00000502999.1	+	0	264																											TTTTTTTTTTGTATTCTAATA	0.313													3	3	---	---	---	---					-	98243871	G	-	98243871	6	5	45	0	1	1	0	1	0	0	0	0	3851	1392	48	0		0	CPOX	3	98243871	RNA	DEL	G	TCGA-BB-7864-01A-11D-2229-08	24810600	98243871	99778559	22	8478											
TAGLN3	29114	broad.mit.edu	37	chr3	111730687	111730687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaggatgatggctgctatCggggagagccatcctggttt	8	10	14	9	1	0	2	0	1	0	1	2	4	1	3	3	5	2	3	3	5	2	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr3:111730687C>T	ENST00000393917.2	+	4	985	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	TAGLN3_ENST00000486460.1_Missense_Mutation_p.R61W|TAGLN3_ENST00000478951.1_Missense_Mutation_p.R145W|TAGLN3_ENST00000273368.4_Missense_Mutation_p.R145W|TAGLN3_ENST00000455401.2_Missense_Mutation_p.R145W	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	145					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						TGGCTGCTATCGGGGAGAGCC	0.542													10	46					0	0	0	0	T	111730687	C	T	111730687	3	4	45	1	0	0	0	0	1	0	0	0	15631	875	31	1	443	1	TAGLN3	3	111730687	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	13486816	111730687	86291743	23	8479											
KALRN	8997	broad.mit.edu	37	chr3	124281837	124281837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctggtccgtaccaccgaaCggagcccgcccttggagggt	6	7	14	14	4	1	0	0	0	1	0	2	3	2	2	5	4	3	1	5	4	2	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr3:124281837C>T	ENST00000360013.3	+	34	5204	c.5077C>T	c.(5077-5079)Cgg>Tgg	p.R1693W	KALRN_ENST00000393496.1_Missense_Mutation_p.R66W	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1693	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TACCACCGAACGGAGCCCGCC	0.657													25	85					0	0	0	0	T	124281837	C	T	124281837	3	4	45	1	0	0	0	0	1	0	0	0	8028	527	19	1	5278	1	KALRN	3	124281837	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	12551150	124281837	73740593	24	8480											
SERPINI2	5276	broad.mit.edu	37	chr3	167189381	167189381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtaagagtctcaccagctGaggtttcctgttgttttaaa	10	15	9	7	0	1	2	1	1	1	1	3	2	2	2	2	1	1	5	2	1	3	5			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr3:167189381G>A	ENST00000476257.1	-	3	540	c.242C>T	c.(241-243)tCa>tTa	p.S81L	SERPINI2_ENST00000461846.1_Missense_Mutation_p.S81L|SERPINI2_ENST00000264677.4_Missense_Mutation_p.S81L|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000471111.1_Missense_Mutation_p.S81L			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	81					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CTCACCAGCTGAGGTTTCCTG	0.363													40	105					0	0	0	0	A	167189381	G	A	167189381	3	1	45	1	0	0	0	0	1	0	0	0	14206	1294	45	2	1007	2	SERPINI2	3	167189381	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	42907544	167189381	30833049	25	8481											
ABCF3	55324	broad.mit.edu	37	chr3	183911221	183911221	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccattgaggctctgggccGtgccctcaacaatttcaggg	8	9	12	12	1	3	1	2	1	1	0	3	2	3	1	3	3	2	1	3	3	2	2	rs150420700		TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr3:183911221G>C	ENST00000429586.2	+	20	2137	c.1952G>C	c.(1951-1953)cGt>cCt	p.R651P	ABCF3_ENST00000292808.5_Missense_Mutation_p.R645P|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	651	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTCTGGGCCGTGCCCTCAAC	0.592													43	163					0	0	0	0	C	183911221	G	C	183911221	3	2	45	1	0	0	0	0	1	0	0	0	67	1145	40	3	2030	3	ABCF3	3	183911221	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	16721840	183911221	14111209	26	8482											
JAKMIP1	152789	broad.mit.edu	37	chr4	6064140	6064140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtcagctggcagaagcGcaggtcagcctcctctcggg	6	6	15	14	3	3	1	2	0	1	1	5	1	4	1	3	4	3	3	3	4	1	0			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr4:6064140G>A	ENST00000409021.3	-	10	1908	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R322C|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R302C|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R487C|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R487C	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	487	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGCAGAAGCGCAGGTCAGCC	0.532													23	56					0	0	0	0	A	6064140	G	A	6064140	3	1	45	1	0	0	0	0	1	0	0	0	7993	1087	38	1	1159	1	JAKMIP1	4	6064140	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08		6064140	185090136	27	8483											
RBPJ	3516	broad.mit.edu	37	chr4	26432108	26432108	+	Missense_Mutation	SNP	T	T	G																															tttcactccaaatttacgagTgtggtttggggatgtagaag																										TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr4:26432108T>G	ENST00000342320.4	+	10	1285	c.1109T>G	c.(1108-1110)gTg>gGg	p.V370G	RBPJ_ENST00000345843.3_Missense_Mutation_p.V369G|RBPJ_ENST00000348160.4_Missense_Mutation_p.V371G|RBPJ_ENST00000361572.6_Missense_Mutation_p.V384G|RBPJ_ENST00000504907.1_Intron|RBPJ_ENST00000342295.1_Missense_Mutation_p.V384G|RBPJ_ENST00000355476.3_Missense_Mutation_p.V370G|RBPJ_ENST00000507561.1_Missense_Mutation_p.V349G			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	384	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AATTTACGAGTGTGGTTTGGG	0.423													8	79					0	0	0	0	G	26432108	T	G	26432108	3	3	45	1	0	0	0	0	1	0	0	0	13243	1696	59	5	1252	5	RBPJ	4	26432108	Missense_Mutation	SNP	T	TCGA-BB-7864-01A-11D-2229-08	20367968	26432108	164722168	28	8484	74	3									
RBPJ	3516	broad.mit.edu	37	chr4	26432110	26432110	+	Missense_Mutation	SNP	T	T	G																															tcactccaaatttacgagtgTggtttggggatgtagaagct																										TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr4:26432110T>G	ENST00000342320.4	+	10	1287	c.1111T>G	c.(1111-1113)Tgg>Ggg	p.W371G	RBPJ_ENST00000345843.3_Missense_Mutation_p.W370G|RBPJ_ENST00000348160.4_Missense_Mutation_p.W372G|RBPJ_ENST00000361572.6_Missense_Mutation_p.W385G|RBPJ_ENST00000504907.1_Intron|RBPJ_ENST00000342295.1_Missense_Mutation_p.W385G|RBPJ_ENST00000355476.3_Missense_Mutation_p.W371G|RBPJ_ENST00000507561.1_Missense_Mutation_p.W350G			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	385	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TTTACGAGTGTGGTTTGGGGA	0.433													7	80					0	0	0	0	G	26432110	T	G	26432110	3	3	45	1	0	0	0	0	1	0	0	0	13243	1696	59	5	1254	5	RBPJ	4	26432110	Missense_Mutation	SNP	T	TCGA-BB-7864-01A-11D-2229-08	2	26432110	164722166	29	8485	74	3									
RBPJ	3516	broad.mit.edu	37	chr4	26432113	26432113	+	Missense_Mutation	SNP	T	T	G																															ctccaaatttacgagtgtggTttggggatgtagaagctgaa																										TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr4:26432113T>G	ENST00000342320.4	+	10	1290	c.1114T>G	c.(1114-1116)Ttt>Gtt	p.F372V	RBPJ_ENST00000345843.3_Missense_Mutation_p.F371V|RBPJ_ENST00000348160.4_Missense_Mutation_p.F373V|RBPJ_ENST00000361572.6_Missense_Mutation_p.F386V|RBPJ_ENST00000504907.1_Intron|RBPJ_ENST00000342295.1_Missense_Mutation_p.F386V|RBPJ_ENST00000355476.3_Missense_Mutation_p.F372V|RBPJ_ENST00000507561.1_Missense_Mutation_p.F351V			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	386	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				ACGAGTGTGGTTTGGGGATGT	0.438													9	81					0	0	0	0	G	26432113	T	G	26432113	3	3	45	1	0	0	0	0	1	0	0	0	13243	1725	60	5	1257	5	RBPJ	4	26432113	Missense_Mutation	SNP	T	TCGA-BB-7864-01A-11D-2229-08	3	26432113	164722163	30	8486	74	3									
ABCG2	9429	broad.mit.edu	37	chr4	89039301	89039301	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctcctgagcaggcccGtggaacataagtcttcctga	10	8	11	12	1	1	2	0	2	1	0	3	3	3	3	4	3	2	1	4	3	3	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr4:89039301G>A	ENST00000237612.3	-	7	1346	c.801C>T	c.(799-801)caC>caT	p.H267H	ABCG2_ENST00000515655.1_Silent_p.H267H	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	267	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GAGCAGGCCCGTGGAACATAA	0.433													19	28					0	0	0	0	A	89039301	G	A	89039301	2	1	45	1	0	0	0	0	0	0	0	1	69	1136	40	1		1	ABCG2	4	89039301	Silent	SNP	G	TCGA-BB-7864-01A-11D-2229-08	62607188	89039301	102114975	31	8487											
NPY2R	4887	broad.mit.edu	37	chr4	156136031	156136031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtgttccacatcatcGccatgtgctccacttttgcc	7	13	6	15	1	2	0	2	0	0	0	5	0	4	0	4	0	2	2	4	0	0	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr4:156136031G>A	ENST00000329476.3	+	2	1429	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	NPY2R_ENST00000506608.1_Missense_Mutation_p.A314T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	314					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCACATCATCGCCATGTGCTC	0.537													17	33					0	0	0	0	A	156136031	G	A	156136031	3	1	45	1	0	0	0	0	1	0	0	0	10680	1087	38	1	942	1	NPY2R	4	156136031	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	67096730	156136031	35018245	32	8488											
NEIL3	55247	broad.mit.edu	37	chr4	178274651	178274651	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaacaaagcaaaaccAgatactagatgaggagtttc	21	6	8	6	0	0	4	0	1	0	3	1	5	0	5	1	1	4	2	1	1	8	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr4:178274651A>T	ENST00000264596.3	+	8	1347	c.1229A>T	c.(1228-1230)cAg>cTg	p.Q410L	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	410					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AAGCAAAACCAGATACTAGAT	0.368								Base excision repair (BER), DNA glycosylases					19	44					0	0	0	0	T	178274651	A	T	178274651	3	4	45	1	0	0	0	0	1	0	0	0	10390	188	7	5	1259	5	NEIL3	4	178274651	Missense_Mutation	SNP	A	TCGA-BB-7864-01A-11D-2229-08	22138620	178274651	12879625	33	8489											
DMXL1	1657	broad.mit.edu	37	chr5	118485779	118485779	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcagatgatgatagctgTtactcatctttggagaaatc	12	12	10	7	0	2	4	1	2	1	2	3	5	2	4	0	1	3	4	0	1	3	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr5:118485779T>A	ENST00000311085.8	+	18	4337	c.4257T>A	c.(4255-4257)tgT>tgA	p.C1419*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.C1419*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1419										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATGATAGCTGTTACTCATCTT	0.353													4	34					0	0	0	0	A	118485779	T	A	118485779	4	1	45	1	0	0	0	0	0	1	0	0	4631	1731	60	5	4327	5	DMXL1	5	118485779	Nonsense_Mutation	SNP	T	TCGA-BB-7864-01A-11D-2229-08		118485779	62429481	34	8490											
PCDHGC3	5098	broad.mit.edu	37	chr5	140857945	140857945	+	Frame_Shift_Del	DEL	G	G	-																															cggggaggcctgatgtcgccGcacctttaccatcaggtgta																										TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr5:140857945delG	ENST00000308177.3	+	1	2366	c.2262delG	c.(2260-2262)ccfs	p.P754fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGTCGCCGCACCTTTACC	0.642											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	90	---	---	---	---					-	140857945	G	-	140857945	7	5	45	1	0	1	0	1	0	0	0	0	11640	1074	38	0	2264	0	PCDHGC3	5	140857945	Frame_Shift_Del	DEL	G	TCGA-BB-7864-01A-11D-2229-08	22372166	140857945	40057315	35	8491											
IRF4	3662	broad.mit.edu	37	chr6	401688	401688	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagcaggatctactgggAcgggcccctggcgctgtgca	7	6	15	13	2	1	1	0	0	1	1	1	3	1	3	3	4	3	3	3	4	1	1			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr6:401688A>T	ENST00000380956.4	+	7	1136	c.1010A>T	c.(1009-1011)gAc>gTc	p.D337V		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	337					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		ATCTACTGGGACGGGCCCCTG	0.597			T	IGH@	MM								19	51					0	0	0	0	T	401688	A	T	401688	3	4	45	1	0	0	0	0	1	0	0	0	7885	275	10	5	1032	5	IRF4	6	401688	Missense_Mutation	SNP	A	TCGA-BB-7864-01A-11D-2229-08		401688	170713379	36	8492											
HIST1H1T	3010	broad.mit.edu	37	chr6	26108108	26108108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctacgtcgtagccagcagCggccaatgccttcttgagcg	7	9	11	14	4	2	1	0	1	2	0	3	1	2	1	3	1	6	2	3	1	3	4			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr6:26108108C>T	ENST00000338379.4	-	1	256	c.214G>A	c.(214-216)Gct>Act	p.A72T		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	72	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TAGCCAGCAGCGGCCAATGCC	0.527													24	72					0	0	0	0	T	26108108	C	T	26108108	3	4	45	1	0	0	0	0	1	0	0	0	7177	768	27	1	413	1	HIST1H1T	6	26108108	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	25706420	26108108	145006959	37	8493											
CUL9	23113	broad.mit.edu	37	chr6	43188224	43188224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaatgagtacctgacaactCggatcgagcagaaccttgtt	12	9	11	9	2	0	3	0	2	0	1	2	6	0	5	2	2	4	3	2	2	4	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr6:43188224C>T	ENST00000252050.4	+	32	6394	c.6310C>T	c.(6310-6312)Cgg>Tgg	p.R2104W	CUL9_ENST00000354495.3_Missense_Mutation_p.R1994W|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.R2076W	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2104					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCTGACAACTCGGATCGAGCA	0.582													56	117					0	0	0	0	T	43188224	C	T	43188224	3	4	45	1	0	0	0	0	1	0	0	0	4093	875	31	1	6432	1	CUL9	6	43188224	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	17080116	43188224	127926843	38	8494											
SLC35F1	222553	broad.mit.edu	37	chr6	118228909	118228909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatcccccctgagcagcCgcagcagcagctgcagccgc	8	4	12	17	2	0	2	0	2	0	0	1	3	1	2	5	0	7	6	5	0	0	0			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr6:118228909C>T	ENST00000360388.4	+	1	221	c.20C>T	c.(19-21)cCg>cTg	p.P7L		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	7					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCTGAGCAGCCGCAGCAGCAG	0.741													11	27					0	0	0	0	T	118228909	C	T	118228909	3	4	45	1	0	0	0	0	1	0	0	0	14676	652	23	1	22	1	SLC35F1	6	118228909	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	75040685	118228909	52886158	39	8495											
CLVS2	134829	broad.mit.edu	37	chr6	123319012	123319012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacacgctgcaccaggaCatccaggaggtgagggatat	12	5	13	11	1	0	2	0	1	0	1	1	5	1	5	3	4	1	2	3	4	1	1			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr6:123319012C>A	ENST00000275162.4	+	2	1425	c.90C>A	c.(88-90)gaC>gaA	p.D30E	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	30					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TGCACCAGGACATCCAGGAGG	0.547													27	55					1.42536e-11	1.64352e-11	1	0	A	123319012	C	A	123319012	3	1	45	1	0	0	0	0	1	0	0	0	3602	477	17	4	92	4	CLVS2	6	123319012	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	5090103	123319012	47796055	40	8496											
MYCT1	80177	broad.mit.edu	37	chr6	153019122	153019122	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagaatcaaactgctttttTtcgacatactggtttttctt	10	19	5	7	1	2	1	1	0	1	1	3	2	2	1	0	1	3	2	0	1	4	8			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr6:153019122T>C	ENST00000367245.5	+	1	93	c.85T>C	c.(85-87)Ttc>Ctc	p.F29L	MYCT1_ENST00000529453.1_Missense_Mutation_p.F29L	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	29						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ACTGCTTTTTTTCGACATACT	0.333													5	14					0	0	0	0	C	153019122	T	C	153019122	3	2	45	1	0	0	0	0	1	0	0	0	10092	1841	64	5	87	5	MYCT1	6	153019122	Missense_Mutation	SNP	T	TCGA-BB-7864-01A-11D-2229-08	29700110	153019122	18095945	41	8497											
FKBP9	11328	broad.mit.edu	37	chr7	33016094	33016094	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattcctccttttctggcctAtggagaggatggagatggta	8	13	12	8	0	1	2	0	0	1	2	3	5	3	3	3	5	0	1	3	5	2	5			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr7:33016094A>G	ENST00000242209.4	+	4	855	c.686A>G	c.(685-687)tAt>tGt	p.Y229C	FKBP9_ENST00000538336.1_Missense_Mutation_p.Y282C|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Missense_Mutation_p.Y91C|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	229	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TTTCTGGCCTATGGAGAGGAT	0.478													3	70					0	0	0	0	G	33016094	A	G	33016094	3	3	45	1	0	0	0	0	1	0	0	0	5960	449	16	5	700	5	FKBP9	7	33016094	Missense_Mutation	SNP	A	TCGA-BB-7864-01A-11D-2229-08		33016094	126122569	42	8498											
C7orf25	79020	broad.mit.edu	37	chr7	42950018	42950018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagatgatgtgagggttgCtatactgcactggctgctgg	9	11	14	7	0	0	3	0	2	0	1	0	3	0	3	0	3	4	5	0	3	3	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr7:42950018C>A	ENST00000350427.4	-	2	757	c.482G>T	c.(481-483)aGc>aTc	p.S161I	C7orf25_ENST00000447342.1_Missense_Mutation_p.S161I|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Missense_Mutation_p.S219I|C7orf25_ENST00000438029.1_Missense_Mutation_p.S161I			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	161										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GTGAGGGTTGCTATACTGCAC	0.498													20	53					3.62473e-10	4.09595e-10	1	0	A	42950018	C	A	42950018	3	1	45	1	0	0	0	0	1	0	0	0	2403	797	28	4	787	4	C7orf25	7	42950018	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	9933924	42950018	116188645	43	8499											
AUTS2	26053	broad.mit.edu	37	chr7	69364472	69364472	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagaaagaaaatgccgaaGgcactcagacaggtgaggaa	19	3	13	6	1	1	4	1	1	0	3	1	7	1	5	1	3	1	1	1	3	6	0			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr7:69364472G>A	ENST00000342771.4	+	2	831	c.510G>A	c.(508-510)aaG>aaA	p.K170K	AUTS2_ENST00000403018.2_Silent_p.K170K|AUTS2_ENST00000406775.2_Silent_p.K170K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	170										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AAATGCCGAAGGCACTCAGAC	0.517													23	47					0	0	0	0	A	69364472	G	A	69364472	2	1	45	1	0	0	0	0	0	0	0	1	1229	991	35	4		4	AUTS2	7	69364472	Silent	SNP	G	TCGA-BB-7864-01A-11D-2229-08	26414454	69364472	89774191	44	8500											
PON3	5446	broad.mit.edu	37	chr7	94993361	94993361	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttctggtccaagaaccAcaatgtcattcacactaaag	14	10	6	11	0	3	1	2	0	1	1	4	1	4	1	2	1	1	1	2	1	5	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr7:94993361A>G	ENST00000265627.5	-	6	519	c.509T>C	c.(508-510)gTg>gCg	p.V170A	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.V170A	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TCCAAGAACCACAATGTCATT	0.398													39	86					0	0	0	0	G	94993361	A	G	94993361	3	3	45	1	0	0	0	0	1	0	0	0	12322	159	6	5	571	5	PON3	7	94993361	Missense_Mutation	SNP	A	TCGA-BB-7864-01A-11D-2229-08	25628889	94993361	64145302	45	8501											
CDCA2	157313	broad.mit.edu	37	chr8	25364100	25364100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaagaaaggatcttttgCgtcatgacccagatttgcat	13	12	9	7	1	2	4	1	2	1	2	2	5	2	5	1	1	2	1	1	1	3	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr8:25364100C>T	ENST00000330560.3	+	15	2395	c.1918C>T	c.(1918-1920)Cgt>Tgt	p.R640C	CDCA2_ENST00000380665.3_Missense_Mutation_p.R625C|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	640					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GGATCTTTTGCGTCATGACCC	0.363													36	43					0	0	0	0	T	25364100	C	T	25364100	3	4	45	1	0	0	0	0	1	0	0	0	3115	768	27	1	1972	1	CDCA2	8	25364100	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08		25364100	120999922	46	8502											
KCNB2	9312	broad.mit.edu	37	chr8	73849915	73849915	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcactgaggtttcagcGccttgtcagggaccttccaa	7	10	12	12	1	2	1	2	1	0	0	3	2	3	2	3	3	1	2	3	3	1	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr8:73849915G>T	ENST00000523207.1	+	3	2913	c.2325G>T	c.(2323-2325)gcG>gcT	p.A775A		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	775					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGGTTTCAGCGCCTTGTCAGG	0.532													51	58					1.89013e-27	2.24826e-27	1	0	T	73849915	G	T	73849915	2	4	45	1	0	0	0	0	0	0	0	1	8066	1074	38	3		3	KCNB2	8	73849915	Silent	SNP	G	TCGA-BB-7864-01A-11D-2229-08	48485815	73849915	72514107	47	8503											
CSMD3	114788	broad.mit.edu	37	chr8	113277798	113277798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagtccattggctggtataCctgggtctccacaactgatt	8	13	9	11	0	2	1	1	1	1	0	4	1	3	1	3	3	2	2	3	3	3	4			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr8:113277798C>A	ENST00000297405.5	-	60	9774	c.9530G>T	c.(9529-9531)gGt>gTt	p.G3177V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G3008V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3107V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3137V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3177	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCTGGTATACCTGGGTCTCC	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			78	45					3.1376e-36	3.81236e-36	1	0	A	113277798	C	A	113277798	3	1	45	1	0	0	0	0	1	0	0	0	3978	507	18	4	1641	4	CSMD3	8	113277798	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	39427883	113277798	33086224	48	8504											
PTCH1	5727	broad.mit.edu	37	chr9	98209339	98209339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtggtcagtctcagggtagCctgggcagagtccccctcgg	5	8	15	13	2	2	1	2	0	1	1	5	1	3	1	3	4	1	2	3	4	1	1			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr9:98209339C>T	ENST00000430669.2	-	23	4586	c.4001G>A	c.(4000-4002)gGc>gAc	p.G1334D	PTCH1_ENST00000421141.1_Missense_Mutation_p.G1249D|PTCH1_ENST00000331920.6_Missense_Mutation_p.G1400D|PTCH1_ENST00000418258.1_Missense_Mutation_p.G1249D|PTCH1_ENST00000429896.2_Missense_Mutation_p.G1249D|PTCH1_ENST00000375274.2_Missense_Mutation_p.G1399D|PTCH1_ENST00000437951.1_Missense_Mutation_p.G1334D			Q13635	PTC1_HUMAN	patched 1	1400					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTCAGGGTAGCCTGGGCAGAG	0.657													33	134					0	0	0	0	T	98209339	C	T	98209339	3	4	45	1	0	0	0	0	1	0	0	0	12809	739	26	4	148	4	PTCH1	9	98209339	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08		98209339	43004092	49	8505											
TRIM32	22954	broad.mit.edu	37	chr9	119460090	119460091	+	Frame_Shift_Ins	INS	-	-	A																															tgctagaatgccccatctgcINSatggagtccttcacagaaga																										TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr9:119460090_119460091insA	ENST00000450136.1	+	2	230_231	c.69_70insA	c.(67-72)tgtggafs	p.CG23fs	ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Frame_Shift_Ins_p.CG23fs|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	23					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GCCCCATCTGCATGGAGTCCTT	0.554													18	44	---	---	---	---					A	119460091	-	A	119460090	7	5	45	1	0	1	1	0	0	0	0	0	16601	718	25	0	71	0	TRIM32	9	119460090	Frame_Shift_Ins	INS	-	TCGA-BB-7864-01A-11D-2229-08	21250751	119460090	21753341	50	8506											
NOTCH1	4851	broad.mit.edu	37	chr9	139418227	139418228	+	Frame_Shift_Ins	INS	-	-	C																															gcgtgagcaggtcgcaggtgINScccccgttgcggcaggggtt																										TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr9:139418227_139418228insC	ENST00000277541.6	-	3	419_420	c.344_345insG	c.(343-345)gacfs	p.D115fs	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	115	EGF-like 3.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTCGCAGGTGCCCCCGTTGCG	0.688			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			12	10	---	---	---	---					C	139418228	-	C	139418227	7	5	45	1	0	1	1	0	0	0	0	0	10617	1306	46	0	7450	0	NOTCH1	9	139418227	Frame_Shift_Ins	INS	-	TCGA-BB-7864-01A-11D-2229-08	19958137	139418227	1795204	51	8507											
MKX	283078	broad.mit.edu	37	chr10	27964468	27964468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acctttcacccttattggatCcgttttccagagtgtctgta	7	16	7	11	1	2	1	1	0	1	1	4	2	4	2	4	1	0	2	4	1	2	6			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr10:27964468C>T	ENST00000375790.5	-	6	1286	c.854G>A	c.(853-855)gGa>gAa	p.G285E	MKX_ENST00000419761.1_Missense_Mutation_p.G285E			Q8IYA7	MKX_HUMAN	mohawk homeobox	285					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CTTATTGGATCCGTTTTCCAG	0.378													6	11					0	0	0	0	T	27964468	C	T	27964468	3	4	45	1	0	0	0	0	1	0	0	0	9679	855	30	2	212	2	MKX	10	27964468	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08		27964468	107570279	52	8508											
CCAR1	55749	broad.mit.edu	37	chr10	70520917	70520919	+	In_Frame_Del	DEL	GAT	GAT	-																															ctgaaaaagaagaggatgagGatgatgataggaaatctgaa																										TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr10:70520917_70520919delGAT	ENST00000265872.6	+	16	2193_2195	c.2074_2076delGAT	c.(2074-2076)del	p.D694del	CCAR1_ENST00000535016.1_In_Frame_Del_p.D679del|CCAR1_ENST00000543719.1_In_Frame_Del_p.D679del	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	694	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGAGGATGAGGATGATGATAGGA	0.34													17	27	---	---	---	---					-	70520919	GAT	-	70520917	7	5	45	1	0	1	0	1	0	0	0	0	2755	1174	41	0	2132	0	CCAR1	10	70520917	In_Frame_Del	DEL	GAT	TCGA-BB-7864-01A-11D-2229-08	42556449	70520917	65013830	53	8509											
TRPM5	29850	broad.mit.edu	37	chr11	2444230	2444231	+	Frame_Shift_Ins	INS	-	-	G																															cgccggtcttcagcatccccINSggggcttccgggacgggggc																										TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr11:2444230_2444231insG	ENST00000452833.1	-	1	44_45	c.36_37insC	c.(34-39)ccgggafs	p.PG12fs	TRPM5_ENST00000533060.1_Frame_Shift_Ins_p.PG12fs|TRPM5_ENST00000155858.6_Frame_Shift_Ins_p.PG12fs|TRPM5_ENST00000528453.1_Frame_Shift_Ins_p.PG12fs			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	12						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCAGCATCCCCGGGGCTTCCGG	0.668													23	58	---	---	---	---					G	2444231	-	G	2444230	7	5	45	1	0	1	1	0	0	0	0	0	16684	652	23	0	3556	0	TRPM5	11	2444230	Frame_Shift_Ins	INS	-	TCGA-BB-7864-01A-11D-2229-08		2444230	132562286	54	8510											
ABTB2	25841	broad.mit.edu	37	chr11	34182507	34182507	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcggtcaccagctcctcGttgtactcctcctctctgat	4	13	6	18	2	2	1	1	1	1	0	8	1	5	1	5	1	2	3	5	1	1	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr11:34182507G>A	ENST00000435224.2	-	11	2764	c.2340C>T	c.(2338-2340)aaC>aaT	p.N780N	ABTB2_ENST00000298992.2_Silent_p.N594N	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	594							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CCAGCTCCTCGTTGTACTCCT	0.597													16	26					0	0	0	0	A	34182507	G	A	34182507	2	1	45	1	0	0	0	0	0	0	0	1	103	1136	40	1		1	ABTB2	11	34182507	Silent	SNP	G	TCGA-BB-7864-01A-11D-2229-08	31738277	34182507	100824009	55	8511											
OR9Q1	219956	broad.mit.edu	37	chr11	57947810	57947810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaacaaggaagtgaaggaGgccctgagaaaaattctcaa	18	5	12	6	0	1	2	1	2	1	1	2	6	1	5	1	4	1	0	1	4	7	1			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr11:57947810G>T	ENST00000335397.3	+	3	1210	c.894G>T	c.(892-894)gaG>gaT	p.E298D		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				AAGTGAAGGAGGCCCTGAGAA	0.473													22	29					0.000229342	0.000235596	1	0	T	57947810	G	T	57947810	3	4	45	1	0	0	0	0	1	0	0	0	11326	991	35	4	896	4	OR9Q1	11	57947810	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	23765303	57947810	77058706	56	8512											
PPP2R5B	5526	broad.mit.edu	37	chr11	64695279	64695279	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctgccactcagatctcAgtgaatatcttccggactct	10	12	6	13	1	5	2	2	1	4	1	7	3	6	3	2	1	2	0	2	1	3	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr11:64695279A>T	ENST00000164133.2	+	4	1024	c.402A>T	c.(400-402)tcA>tcT	p.S134S		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	134					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CTCAGATCTCAGTGAATATCT	0.483													28	49					0	0	0	0	T	64695279	A	T	64695279	2	4	45	1	0	0	0	0	0	0	0	1	12469	175	7	5		5	PPP2R5B	11	64695279	Silent	SNP	A	TCGA-BB-7864-01A-11D-2229-08	6747469	64695279	70311237	57	8513											
MMP12	4321	broad.mit.edu	37	chr11	102743713	102743713	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtagatgtgtccagttGcccggtcactttcagaccca	8	10	11	12	1	2	2	2	0	0	2	3	2	3	2	3	2	1	2	3	2	1	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr11:102743713G>T	ENST00000532855.1	-	0	328							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GTGTCCAGTTGCCCGGTCACT	0.468													9	25					1.12685e-05	1.21271e-05	1	0	T	102743713	G	T	102743713	1	4	45	0	1	0	0	0	0	0	0	0	9720	1328	46	4		4	MMP12	11	102743713	RNA	SNP	G	TCGA-BB-7864-01A-11D-2229-08	38048434	102743713	32262803	58	8514											
NCAPD3	23310	broad.mit.edu	37	chr11	134023217	134023217	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagtccgtggtgtcccgaTgtaactgacccctgctccaa	7	9	11	14	3	0	1	0	1	0	0	3	3	3	2	5	2	2	2	5	2	2	1			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr11:134023217T>G	ENST00000534548.2	-	33	4358	c.4294A>C	c.(4294-4296)Atc>Ctc	p.I1432L	NCAPD3_ENST00000526787.2_5'UTR	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1432					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GGTGTCCCGATGTAACTGACC	0.527													74	134					0	0	0	0	G	134023217	T	G	134023217	3	3	45	1	0	0	0	0	1	0	0	0	10276	1464	51	5	214	5	NCAPD3	11	134023217	Missense_Mutation	SNP	T	TCGA-BB-7864-01A-11D-2229-08	31279504	134023217	983299	59	8515											
KRT82	3888	broad.mit.edu	37	chr12	52799961	52799961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggccggcatggccccttgCtcactgcatagtgggtgacc	5	8	14	14	2	1	1	1	1	0	0	1	1	1	1	4	4	2	3	4	4	1	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr12:52799961C>A	ENST00000257974.2	-	1	178	c.101G>T	c.(100-102)aGc>aTc	p.S34I		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	34	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TGGCCCCTTGCTCACTGCATA	0.642													10	19					7.48243e-07	8.12995e-07	1	0	A	52799961	C	A	52799961	3	1	45	1	0	0	0	0	1	0	0	0	8548	797	28	4	1476	4	KRT82	12	52799961	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08		52799961	81051934	60	8516											
NCKAP1L	3071	broad.mit.edu	37	chr12	54902309	54902309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcccatgagatgctgcatgGgcatgggtgagttaaggcga	9	9	16	7	1	0	2	0	2	0	1	0	4	0	2	1	3	3	4	1	3	1	1			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr12:54902309G>A	ENST00000293373.6	+	5	579	c.500G>A	c.(499-501)gGg>gAg	p.G167E	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.G117E	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	167					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATGCTGCATGGGCATGGGTGA	0.428													65	169					0	0	0	0	A	54902309	G	A	54902309	3	1	45	1	0	0	0	0	1	0	0	0	10292	1232	43	4	518	4	NCKAP1L	12	54902309	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	2102348	54902309	78949586	61	8517											
PPTC7	160760	broad.mit.edu	37	chr12	110977626	110977626	+	Splice_Site	DEL	C	C	-																															gctaacctttgagttaattaCctttaacttttttagctcct																										TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr12:110977626delC	ENST00000354300.3	-	4	1015		c.e4+1			NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)								metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						GAGTTAATTACCTTTAACTTT	0.393													17	41	---	---	---	---					-	110977626	C	-	110977626	8	5	45	1	0	1	0	1	0	0	1	0	12489	521	18	0	199	0	PPTC7	12	110977626	Splice_Site	DEL	C	TCGA-BB-7864-01A-11D-2229-08	56075317	110977626	22874269	62	8518											
SBNO1	55206	broad.mit.edu	37	chr12	123782568	123782568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcttagccgcacgatctgCatcttcacgtttgtgccact	6	14	8	13	3	4	0	1	0	3	0	4	1	4	0	2	0	3	4	2	0	1	4			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr12:123782568C>T	ENST00000420886.2	-	30	3995	c.3996G>A	c.(3994-3996)atG>atA	p.M1332I	SBNO1_ENST00000602398.1_Missense_Mutation_p.M1332I|SBNO1_ENST00000602750.1_Missense_Mutation_p.M1331I|SBNO1_ENST00000267176.4_Missense_Mutation_p.M1331I	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1332							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GCACGATCTGCATCTTCACGT	0.433													36	80					0	0	0	0	T	123782568	C	T	123782568	3	4	45	1	0	0	0	0	1	0	0	0	13948	710	25	4	193	4	SBNO1	12	123782568	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	12804942	123782568	10069327	63	8519											
DHX37	57647	broad.mit.edu	37	chr12	125467077	125467077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctttggtgtgatacatgcgGttcccagtgcctagcttgga	6	14	12	9	1	1	1	0	1	1	0	2	2	2	2	2	3	4	2	2	3	2	5			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr12:125467077G>T	ENST00000308736.2	-	3	467	c.369C>A	c.(367-369)aaC>aaA	p.N123K		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	123							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GATACATGCGGTTCCCAGTGC	0.557													5	404					3.59834e-05	3.76493e-05	1	0	T	125467077	G	T	125467077	3	4	45	1	0	0	0	0	1	0	0	0	4547	1252	44	4	3204	4	DHX37	12	125467077	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	1684509	125467077	8384818	64	8520											
PIWIL1	9271	broad.mit.edu	37	chr12	130847589	130847589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgcccagccggatcatcGtgtaccgcgatggcgtagga	9	7	13	12	5	1	0	1	0	0	0	2	3	1	2	3	3	3	2	3	3	2	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr12:130847589G>A	ENST00000245255.3	+	18	2367	c.2095G>A	c.(2095-2097)Gtg>Atg	p.V699M		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	699	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCGGATCATCGTGTACCGCGA	0.488													31	66					0	0	0	0	A	130847589	G	A	130847589	3	1	45	1	0	0	0	0	1	0	0	0	12029	1145	40	1	2161	1	PIWIL1	12	130847589	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	5380512	130847589	3004306	65	8521											
DCLK1	9201	broad.mit.edu	37	chr13	36402442	36402442	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatactctctagcagtcGatctgcgaagagaaagttca	13	9	10	9	2	3	1	1	0	2	1	5	5	3	1	0	0	4	3	0	0	4	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr13:36402442G>T	ENST00000255448.4	-	9	1443	c.1232C>A	c.(1231-1233)tCg>tAg	p.S411*	DCLK1_ENST00000379893.1_Nonsense_Mutation_p.S104*|DCLK1_ENST00000360631.3_Nonsense_Mutation_p.S411*	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	411	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.S411L(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTAGCAGTCGATCTGCGAAG	0.328													6	10					5.9392e-07	6.5797e-07	1	0	T	36402442	G	T	36402442	4	4	45	1	0	0	0	0	0	1	0	0	4323	1059	37	3	997	3	DCLK1	13	36402442	Nonsense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08		36402442	78767436	66	8522											
CCNA1	8900	broad.mit.edu	37	chr13	37011963	37011963	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgtgtatgaagtagaCaccggcacactcaagtcaga	14	7	12	8	1	2	3	2	1	0	2	2	5	2	4	1	2	0	3	1	2	4	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr13:37011963C>T	ENST00000418263.1	+	3	842	c.492C>T	c.(490-492)gaC>gaT	p.D164D	CCNA1_ENST00000449823.1_Silent_p.D121D|CCNA1_ENST00000440264.1_Silent_p.D121D|CCNA1_ENST00000255465.4_Silent_p.D165D	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	165					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ATGAAGTAGACACCGGCACAC	0.488													28	37					0	0	0	0	T	37011963	C	T	37011963	2	4	45	1	0	0	0	0	0	0	0	1	2938	477	17	4		4	CCNA1	13	37011963	Silent	SNP	C	TCGA-BB-7864-01A-11D-2229-08	609521	37011963	78157915	67	8523											
AHNAK2	113146	broad.mit.edu	37	chr14	105410834	105410834	+	Missense_Mutation	SNP	C	C	A																															ctccatggacttccctggggCcgataccctgaatgacggca																										TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr14:105410834C>A	ENST00000333244.5	-	7	11073	c.10954G>T	c.(10954-10956)Gcc>Tcc	p.A3652S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3652						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCCCTGGGGCCGATACCCTG	0.582													101	177					2.68873e-43	3.37585e-43	1	0	A	105410834	C	A	105410834	3	1	45	1	0	0	0	0	1	0	0	0	415	739	26	4	6437	4	AHNAK2	14	105410834	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08		105410834	1938706	68	8524	75	2									
AHNAK2	113146	broad.mit.edu	37	chr14	105410835	105410835	+	Silent	SNP	C	C	A																															tccatggacttccctggggcCgataccctgaatgacggcat																										TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr14:105410835C>A	ENST00000333244.5	-	7	11072	c.10953G>T	c.(10951-10953)tcG>tcT	p.S3651S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3651						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCCTGGGGCCGATACCCTGA	0.587													102	173					1.09269e-41	1.35686e-41	1	0	A	105410835	C	A	105410835	2	1	45	1	0	0	0	0	0	0	0	1	415	639	23	3		3	AHNAK2	14	105410835	Silent	SNP	C	TCGA-BB-7864-01A-11D-2229-08	1	105410835	1938705	69	8525	75	2									
MAP1A	4130	broad.mit.edu	37	chr15	43814461	43814461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcccactgagaagattgtgCgtgtgctttttccaggaaat	10	13	10	8	1	0	2	0	1	0	2	2	4	2	3	2	1	2	1	2	1	2	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr15:43814461C>T	ENST00000382031.1	+	5	1535	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	MAP1A_ENST00000399453.1_Missense_Mutation_p.R264C|MAP1A_ENST00000300231.5_Missense_Mutation_p.R264C			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	264	9 X 3 AA repeats of K-K-[DE].					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAAGATTGTGCGTGTGCTTTT	0.542													16	52					0	0	0	0	T	43814461	C	T	43814461	3	4	45	1	0	0	0	0	1	0	0	0	9296	768	27	1	792	1	MAP1A	15	43814461	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08		43814461	58716931	70	8526											
SH2D7	646892	broad.mit.edu	37	chr15	78390833	78390833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagtggtccccgacaaGgccgccagcccccgctcttc	6	6	9	20	3	2	0	1	0	1	0	4	1	3	0	6	2	1	1	6	2	1	1			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr15:78390833G>A	ENST00000328828.5	+	4	540	c.540G>A	c.(538-540)aaG>aaA	p.K180K	SH2D7_ENST00000409568.2_Silent_p.K44K	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	180										endometrium(2)|kidney(2)|lung(3)	7						TCCCCGACAAGGCCGCCAGCC	0.602													13	30					0	0	0	0	A	78390833	G	A	78390833	2	1	45	1	0	0	0	0	0	0	0	1	14326	991	35	4		4	SH2D7	15	78390833	Silent	SNP	G	TCGA-BB-7864-01A-11D-2229-08	34576372	78390833	24140559	71	8527											
ARNT2	9915	broad.mit.edu	37	chr15	80762743	80762743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaagtccaccgatggcGcgtacaagccttccttcctc	9	8	9	15	3	0	0	0	0	0	0	4	2	3	1	5	2	3	1	5	2	4	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr15:80762743G>T	ENST00000533983.1	+	5	685	c.346G>T	c.(346-348)Gcg>Tcg	p.A116S	ARNT2_ENST00000527771.1_Missense_Mutation_p.A116S|ARNT2_ENST00000303329.4_Missense_Mutation_p.A127S|ARNT2_ENST00000531595.3_3'UTR			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	127	Helix-loop-helix motif.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CACCGATGGCGCGTACAAGCC	0.572													6	33					0.0293803	0.0296427	1	0	T	80762743	G	T	80762743	3	4	45	1	0	0	0	0	1	0	0	0	970	1087	38	3	393	3	ARNT2	15	80762743	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	2371910	80762743	21768649	72	8528											
FANCI	55215	broad.mit.edu	37	chr15	89857856	89857856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttaggccagagttcttcGggaaaccaagccaatcccta	11	8	8	14	1	1	1	0	0	1	1	3	2	2	2	5	2	2	1	5	2	5	4			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr15:89857856G>T	ENST00000310775.7	+	36	3820	c.3734G>T	c.(3733-3735)cGg>cTg	p.R1245L	FANCI_ENST00000300027.8_Missense_Mutation_p.R1185L|FANCI_ENST00000566615.1_3'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1245					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGAGTTCTTCGGGAAACCAAG	0.378								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	35					3.41278e-10	3.8954e-10	1	0	T	89857856	G	T	89857856	3	4	45	1	0	0	0	0	1	0	0	0	5714	1116	39	3	3872	3	FANCI	15	89857856	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	9095113	89857856	12673536	73	8529											
TNP2	7142	broad.mit.edu	37	chr16	11362922	11362922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactctggctctggtggccGgatgagctgtgggctccagt	4	10	17	10	1	2	1	0	1	2	0	3	3	3	3	2	6	1	3	2	6	0	0	rs139644228	by1000genomes	TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr16:11362922G>A	ENST00000312693.3	-	1	267	c.198C>T	c.(196-198)tcC>tcT	p.S66S	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	66					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						TCTGGTGGCCGGATGAGCTGT	0.622													4	220					0	0	0	0	A	11362922	G	A	11362922	2	1	45	1	0	0	0	0	0	0	0	1	16428	1103	39	1		1	TNP2	16	11362922	Silent	SNP	G	TCGA-BB-7864-01A-11D-2229-08		11362922	78991831	74	8530											
ACSM2A	123876	broad.mit.edu	37	chr16	20494425	20494425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcgcagttcctgtcccatGacccagaacagctcaccaag	10	7	7	17	1	1	2	1	1	0	1	4	2	3	2	5	0	2	3	5	0	2	1			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr16:20494425G>A	ENST00000573854.1	+	13	1669	c.1555G>A	c.(1555-1557)Gac>Aac	p.D519N	ACSM2A_ENST00000536134.1_Missense_Mutation_p.D291N|ACSM2A_ENST00000417235.2_Missense_Mutation_p.D440N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.D519N|ACSM2A_ENST00000219054.6_Missense_Mutation_p.D519N|ACSM2A_ENST00000575690.1_Missense_Mutation_p.D519N	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	519					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCTGTCCCATGACCCAGAACA	0.522													39	97					0	0	0	0	A	20494425	G	A	20494425	3	1	45	1	0	0	0	0	1	0	0	0	183	1290	45	2	1601	2	ACSM2A	16	20494425	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	9131503	20494425	69860328	75	8531											
ATXN2L	11273	broad.mit.edu	37	chr16	28846986	28846986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggaccttctgcccagtcCcctcagagcagcttccccca	6	7	8	20	1	2	1	1	0	1	1	4	2	4	2	7	1	3	2	7	1	0	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr16:28846986C>T	ENST00000336783.4	+	21	2969	c.2802C>T	c.(2800-2802)tcC>tcT	p.S934S	ATXN2L_ENST00000325215.6_Silent_p.S934S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Silent_p.S934S|ATXN2L_ENST00000564304.1_Silent_p.S940S|ATXN2L_ENST00000395547.2_Silent_p.S934S|ATXN2L_ENST00000382686.4_Silent_p.S934S|ATXN2L_ENST00000340394.8_Silent_p.S934S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	934						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTGCCCAGTCCCCTCAGAGCA	0.647													3	53					0	0	0	0	T	28846986	C	T	28846986	2	4	45	1	0	0	0	0	0	0	0	1	1216	610	22	4		4	ATXN2L	16	28846986	Silent	SNP	C	TCGA-BB-7864-01A-11D-2229-08	8352561	28846986	61507767	76	8532											
SRCAP	10847	broad.mit.edu	37	chr16	30734936	30734936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagctgcccccttgaccatCtcttctcctctccacgtgcc	4	11	7	19	1	3	1	0	1	3	0	6	2	3	2	6	1	3	1	6	1	0	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr16:30734936C>G	ENST00000262518.4	+	25	4576	c.4191C>G	c.(4189-4191)atC>atG	p.I1397M	SRCAP_ENST00000395059.2_Missense_Mutation_p.I1335M|SRCAP_ENST00000344771.4_Missense_Mutation_p.I1239M	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1397	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCTTGACCATCTCTTCTCCTC	0.567													37	101					0	0	0	0	G	30734936	C	G	30734936	3	3	45	1	0	0	0	0	1	0	0	0	15225	903	32	2	4281	2	SRCAP	16	30734936	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	1887950	30734936	59619817	77	8533											
PHKB	5257	broad.mit.edu	37	chr16	47733262	47733262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaaacaatgatgacccGtgtctgattagctagtgggg	12	9	12	8	1	1	3	0	3	1	0	1	3	1	3	2	2	3	1	2	2	5	2	rs146134171	byFrequency	TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr16:47733262G>A	ENST00000455779.1	+	32	3431	c.3246G>A	c.(3244-3246)ccG>ccA	p.P1082P	PHKB_ENST00000566044.1_Silent_p.P1082P|PHKB_ENST00000323584.5_Silent_p.P1089P|PHKB_ENST00000299167.8_Silent_p.P1089P			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	1089					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATGATGACCCGTGTCTGATTA	0.463													37	102					0	0	0	0	A	47733262	G	A	47733262	2	1	45	1	0	0	0	0	0	0	0	1	11917	1132	40	1		1	PHKB	16	47733262	Silent	SNP	G	TCGA-BB-7864-01A-11D-2229-08	16998326	47733262	42621491	78	8534											
IRX6	79190	broad.mit.edu	37	chr16	55360496	55360497	+	In_Frame_Ins	INS	-	-	GGG																															cagagcccccctcactgtatINSggggcactggtgagtacagg																										TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr16:55360496_55360497insGGG	ENST00000290552.7	+	2	1626_1627	c.294_295insGGG	c.(292-297)tagggc>taGGGgggc	p.99_100insG	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	99						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTCACTGTATGGGGCACTGGT	0.609													4	4	---	---	---	---					GGG	55360497	-	GGG	55360496	7	5	45	1	0	1	1	0	0	0	0	0	7901	1471	51	0	300	0	IRX6	16	55360496	In_Frame_Ins	INS	-	TCGA-BB-7864-01A-11D-2229-08	7627234	55360496	34994257	79	8535											
SLC7A6	9057	broad.mit.edu	37	chr16	68330382	68330382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttggacagctctacctccGctggaaggagcccaagcggc	8	7	13	13	2	1	0	0	0	1	0	2	3	2	3	3	4	4	3	3	4	3	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr16:68330382G>A	ENST00000566454.1	+	10	1504	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	SLC7A6_ENST00000219343.6_Missense_Mutation_p.R412H	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	412					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CTCTACCTCCGCTGGAAGGAG	0.577													32	85					0	0	0	0	A	68330382	G	A	68330382	3	1	45	1	0	0	0	0	1	0	0	0	14789	1087	38	1	1261	1	SLC7A6	16	68330382	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	12969886	68330382	22024371	80	8536											
PFAS	5198	broad.mit.edu	37	chr17	8170160	8170160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaagcgttaccgggatGctggcctccattgcctggag	6	10	14	11	2	0	1	0	1	0	0	1	3	1	3	4	3	5	3	4	3	2	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr17:8170160G>T	ENST00000314666.6	+	23	3044	c.2911G>T	c.(2911-2913)Gct>Tct	p.A971S	PFAS_ENST00000545834.1_Missense_Mutation_p.A547S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	971					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTACCGGGATGCTGGCCTCCA	0.662													16	26					2.31682e-05	2.44674e-05	1	0	T	8170160	G	T	8170160	3	4	45	1	0	0	0	0	1	0	0	0	11826	1319	46	4	2997	4	PFAS	17	8170160	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08		8170160	73025050	81	8537											
BCAS3	54828	broad.mit.edu	37	chr17	58824568	58824568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttatgcagatcagtggtGaagcacaagagctcttctct	10	12	9	10	0	4	3	1	1	3	2	5	3	4	3	0	1	3	3	0	1	3	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr17:58824568G>A	ENST00000589222.1	+	6	399	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	BCAS3_ENST00000588462.1_Missense_Mutation_p.E111K|BCAS3_ENST00000408905.3_Missense_Mutation_p.E111K|BCAS3_ENST00000407086.3_Missense_Mutation_p.E111K|BCAS3_ENST00000390652.5_Missense_Mutation_p.E111K			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	111						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GATCAGTGGTGAAGCACAAGA	0.378													54	86					0	0	0	0	A	58824568	G	A	58824568	3	1	45	1	0	0	0	0	1	0	0	0	1356	1291	45	2	349	2	BCAS3	17	58824568	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	50654408	58824568	22370642	82	8538											
LGALS3BP	3959	broad.mit.edu	37	chr17	76969075	76969076	+	Frame_Shift_Del	DEL	CA	CA	-																															agaaggtccctgaccatgggCacacactcagcatccacact																										TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr17:76969075_76969076delCA	ENST00000262776.3	-	5	913_914	c.605_606delTG	c.(604-606)gfs	p.V202fs	LGALS3BP_ENST00000585407.1_Frame_Shift_Del_p.V202fs|LGALS3BP_ENST00000591778.1_Intron	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	202	BTB.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TGACCATGGGCACACACTCAGC	0.629													15	37	---	---	---	---					-	76969076	CA	-	76969075	7	5	45	1	0	1	0	1	0	0	0	0	8797	697	25	0	1159	0	LGALS3BP	17	76969075	Frame_Shift_Del	DEL	CA	TCGA-BB-7864-01A-11D-2229-08	18144507	76969075	4226135	83	8539											
PTPRM	5797	broad.mit.edu	37	chr18	8406128	8406128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagtacaagttctgctacGaggtggccctggaatacttg	10	11	11	9	1	2	0	1	0	1	0	2	2	2	1	1	3	4	3	1	3	5	5			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr18:8406128G>A	ENST00000332175.8	+	31	5364	c.4327G>A	c.(4327-4329)Gag>Aag	p.E1443K	PTPRM_ENST00000444013.1_Missense_Mutation_p.E1230K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1457K|PTPRM_ENST00000400053.4_Missense_Mutation_p.E1381K|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1456K	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1443	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTTCTGCTACGAGGTGGCCCT	0.453													6	41					0	0	0	0	A	8406128	G	A	8406128	3	1	45	1	0	0	0	0	1	0	0	0	12888	1059	37	1	4496	1	PTPRM	18	8406128	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08		8406128	69671120	84	8540											
PTPRS	5802	broad.mit.edu	37	chr19	5274277	5274277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtggcttggggtcacccGtggcctgacacacgaaagag	8	7	14	12	3	1	2	1	1	0	1	2	3	1	2	2	4	0	1	2	4	1	1			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr19:5274277G>A	ENST00000372412.4	-	3	403	c.170C>T	c.(169-171)aCg>aTg	p.T57M	PTPRS_ENST00000588012.1_Missense_Mutation_p.T57M|PTPRS_ENST00000262963.6_Missense_Mutation_p.T57M|PTPRS_ENST00000357368.4_Missense_Mutation_p.T57M|PTPRS_ENST00000353284.2_Missense_Mutation_p.T57M|PTPRS_ENST00000587303.1_Missense_Mutation_p.T57M|PTPRS_ENST00000348075.2_Missense_Mutation_p.T57M|PTPRS_ENST00000592099.1_Missense_Mutation_p.T57M|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000590509.1_Missense_Mutation_p.T57M			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	57	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGGGTCACCCGTGGCCTGACA	0.597													18	27					0	0	0	0	A	5274277	G	A	5274277	3	1	45	1	0	0	0	0	1	0	0	0	12893	1145	40	1	5820	1	PTPRS	19	5274277	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08		5274277	53854706	85	8541											
ZNF799	90576	broad.mit.edu	37	chr19	12501842	12501842	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaggaatagaaatcaataAaggctttcccacatttgcat	17	10	7	7	0	1	1	1	0	0	1	2	3	2	2	1	2	1	2	1	2	7	4	rs78572821		TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr19:12501842A>T	ENST00000419318.1	-	4	2023	c.1274T>A	c.(1273-1275)tTt>tAt	p.F425Y	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.F457Y			Q96GE5	ZN799_HUMAN	zinc finger protein 799	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GAAATCAATAAAGGCTTTCCC	0.388													29	47					0	0	0	0	T	12501842	A	T	12501842	3	4	45	1	0	0	0	0	1	0	0	0	18259	14	1	5	565	5	ZNF799	19	12501842	Missense_Mutation	SNP	A	TCGA-BB-7864-01A-11D-2229-08	7227565	12501842	46627141	86	8542											
MYO9B	4650	broad.mit.edu	37	chr19	17283727	17283727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgggccatggcagtgcttCgggaggccggacgcctgcgg	4	6	18	13	5	0	0	0	0	0	0	2	2	1	2	4	6	2	2	4	6	0	1			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr19:17283727C>T	ENST00000595618.1	+	13	2247	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	MYO9B_ENST00000397274.2_Missense_Mutation_p.R699W|MYO9B_ENST00000594824.1_Missense_Mutation_p.R699W	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	699	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGCAGTGCTTCGGGAGGCCGG	0.687													28	45					0	0	0	0	T	17283727	C	T	17283727	3	4	45	1	0	0	0	0	1	0	0	0	10155	875	31	1	2141	1	MYO9B	19	17283727	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	4781885	17283727	41845256	87	8543											
MYO9B	4650	broad.mit.edu	37	chr19	17322568	17322568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaggagcgggccgggCggggggcctcggaaggtcag	5	4	23	9	4	1	0	1	0	0	0	2	3	1	3	2	9	2	1	2	9	1	0			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr19:17322568C>T	ENST00000595618.1	+	39	6195	c.6043C>T	c.(6043-6045)Cgg>Tgg	p.R2015W	MYO9B_ENST00000397274.2_Missense_Mutation_p.R2015W|MYO9B_ENST00000594824.1_Missense_Mutation_p.R2015W	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	2015	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCGGGCCGGGCGGGGGGCCTC	0.697													18	39					0	0	0	0	T	17322568	C	T	17322568	3	4	45	1	0	0	0	0	1	0	0	0	10155	759	27	1	6193	1	MYO9B	19	17322568	Missense_Mutation	SNP	C	TCGA-BB-7864-01A-11D-2229-08	38841	17322568	41806415	88	8544											
NKPD1	284353	broad.mit.edu	37	chr19	45656415	45656415	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttcttcacctcgcacAtgaaacccagctggctgccg	7	9	7	18	2	2	1	1	1	1	0	4	1	3	1	5	1	3	3	5	1	1	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr19:45656415A>T	ENST00000317951.4	-	4	1279	c.1280T>A	c.(1279-1281)aTg>aAg	p.M427K	NKPD1_ENST00000429338.1_Missense_Mutation_p.M205K|NKPD1_ENST00000589776.1_Missense_Mutation_p.M205K|NKPD1_ENST00000438936.2_Missense_Mutation_p.M205K	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CACCTCGCACATGAAACCCAG	0.617													3	13					0	0	0	0	T	45656415	A	T	45656415	3	4	45	1	0	0	0	0	1	0	0	0	10516	217	8	5	1222	5	NKPD1	19	45656415	Missense_Mutation	SNP	A	TCGA-BB-7864-01A-11D-2229-08	28333847	45656415	13472568	89	8545											
RCN3	57333	broad.mit.edu	37	chr19	50040344	50040344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaaaagatgctggctcGggacgagcggcgtttccggg	9	7	15	10	5	0	1	0	0	0	1	2	3	1	2	1	4	3	3	1	4	3	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr19:50040344G>T	ENST00000270645.3	+	4	947	c.500G>T	c.(499-501)cGg>cTg	p.R167L		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	167	EF-hand 3.					endoplasmic reticulum lumen	calcium ion binding|protein binding	p.R167Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		ATGCTGGCTCGGGACGAGCGG	0.572													75	159					3.31162e-33	3.98099e-33	1	0	T	50040344	G	T	50040344	3	4	45	1	0	0	0	0	1	0	0	0	13263	1116	39	3	510	3	RCN3	19	50040344	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08	4383929	50040344	9088639	90	8546											
ZIM3	114026	broad.mit.edu	37	chr19	57647237	57647237	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaatttggatggattattGccaactaattttctgtatcc	12	16	6	7	0	1	0	0	0	1	0	2	2	2	2	2	2	2	1	2	2	5	7			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr19:57647237G>A	ENST00000269834.1	-	5	853	c.468C>T	c.(466-468)ggC>ggT	p.G156G		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGGATTATTGCCAACTAATT	0.368													30	95					0	0	0	0	A	57647237	G	A	57647237	2	1	45	1	0	0	0	0	0	0	0	1	17780	1306	46	4		4	ZIM3	19	57647237	Silent	SNP	G	TCGA-BB-7864-01A-11D-2229-08	7606893	57647237	1481746	91	8547											
RIN2	54453	broad.mit.edu	37	chr20	19981297	19981297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggaggtcaacagtggttGcacaggaaagaccctccttg	11	8	12	10	0	2	1	2	0	0	1	3	3	3	3	2	4	2	2	2	4	2	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr20:19981297G>A	ENST00000255006.6	+	12	2701	c.2552G>A	c.(2551-2553)tGc>tAc	p.C851Y	RIN2_ENST00000440354.2_Missense_Mutation_p.C369Y|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	802	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AACAGTGGTTGCACAGGAAAG	0.493													37	77					0	0	0	0	A	19981297	G	A	19981297	3	1	45	1	0	0	0	0	1	0	0	0	13457	1319	46	4	2447	4	RIN2	20	19981297	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08		19981297	43044223	92	8548											
CHRNA4	1137	broad.mit.edu	37	chr20	61982208	61982208	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggtcgatcttggccttGtcgtaggtccaggagccgaa	8	9	13	11	3	1	0	0	0	1	0	4	3	2	1	4	4	1	1	4	4	2	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr20:61982208G>A	ENST00000370263.4	-	5	776	c.555C>T	c.(553-555)gaC>gaT	p.D185D	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	185					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCTTGGCCTTGTCGTAGGTCC	0.592													26	155					0	0	0	0	A	61982208	G	A	61982208	2	1	45	1	0	0	0	0	0	0	0	1	3414	1368	48	4		4	CHRNA4	20	61982208	Silent	SNP	G	TCGA-BB-7864-01A-11D-2229-08	42000911	61982208	1043312	93	8549											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913339	77913339	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcctgggcatttgaaggCtccagaggctcctggggagg	8	9	15	9	0	0	2	0	1	0	1	3	3	3	3	3	6	0	3	3	6	2	2			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chrX:77913339C>T	ENST00000321110.1	-	2	874	c.579G>A	c.(577-579)gaG>gaA	p.E193E		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	193	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CATTTGAAGGCTCCAGAGGCT	0.537													13	7					0	0	0	0	T	77913339	C	T	77913339	2	4	45	1	0	0	0	0	0	0	0	1	17686	796	28	4		4	ZCCHC5	23	77913339	Silent	SNP	C	TCGA-BB-7864-01A-11D-2229-08		77913339	77357221	94	8550											
SEPT6	23157	broad.mit.edu	37	chrX	118797474	118797474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgatctggtccccaaaGccaactgtgctaacgatcgt	9	12	9	11	2	1	1	0	1	1	0	3	2	2	1	3	1	4	2	3	1	3	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chrX:118797474G>A	ENST00000394610.1	-	3	576	c.312C>T	c.(310-312)ggC>ggT	p.G104G	SEPT6_ENST00000489216.1_Silent_p.G104G|SEPT6_ENST00000394616.4_Silent_p.G46G|SEPT6_ENST00000394617.2_Silent_p.G134G|SEPT6_ENST00000343984.5_Silent_p.G104G|SEPT6_ENST00000360156.7_Silent_p.G104G|SEPT6_ENST00000354228.4_Silent_p.G104G|SEPT6_ENST00000354416.3_Silent_p.G104G	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	104					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GGTCCCCAAAGCCAACTGTGC	0.572			T	MLL	AML								115	58					0	0	0	0	A	118797474	G	A	118797474	2	1	45	1	0	0	0	0	0	0	0	1	14155	958	34	4		4	SEPT6	23	118797474	Silent	SNP	G	TCGA-BB-7864-01A-11D-2229-08	40884135	118797474	36473086	95	8551											
PCDH11Y	83259	broad.mit.edu	37	chrY	4968515	4968515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaagcctgacagccctGatttggcccgacactacaaa	11	9	7	14	1	1	2	1	2	0	0	1	3	1	2	3	1	3	0	3	1	3	3			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chrY:4968515G>T	ENST00000333703.4	+	5	3376	c.2863G>T	c.(2863-2865)Gat>Tat	p.D955Y	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D966Y|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D966Y	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	966					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGACAGCCCTGATTTGGCCCG	0.463													98	39					1.70018e-41	2.08827e-41	1	0	T	4968515	G	T	4968515	3	4	45	1	0	0	0	0	1	0	0	0	11580	1290	45	2	2938	2	PCDH11Y	24	4968515	Missense_Mutation	SNP	G	TCGA-BB-7864-01A-11D-2229-08		4968515	54405051	96	8552											
NBPF1	55672	broad.mit.edu	37	chr1	16892175	16892175	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttttcctccaatgcataaAaggaacttccatagggcagg	12	11	9	9	0	0	0	0	0	0	0	3	1	3	1	3	3	2	3	3	3	5	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:16892175A>T	ENST00000430580.2	-	27	3904	c.3017T>A	c.(3016-3018)tTt>tAt	p.F1006Y		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1006	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAATGCATAAAAGGAACTTCC	0.448													109	4441					0	0	0	0	T	16892175	A	T	16892175	3	4	46	1	0	0	0	0	1	0	0	0	10262	14	1	5	414	5	NBPF1	1	16892175	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08		16892175	232358446	1	8553											
C1QA	712	broad.mit.edu	37	chr1	22965856	22965856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatttaccagggctctgagGccgacagcgtcttcagcggc	8	8	12	13	3	3	1	1	1	2	0	3	2	3	1	2	3	3	1	2	3	1	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:22965856G>T	ENST00000374642.3	+	3	898	c.694G>T	c.(694-696)Gcc>Tcc	p.A232S	C1QA_ENST00000402322.1_Missense_Mutation_p.A232S	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	232	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGCTCTGAGGCCGACAGCGT	0.607													46	90					1.41504e-22	1.77606e-22	1	0	T	22965856	G	T	22965856	3	4	46	1	0	0	0	0	1	0	0	0	1973	1203	42	4	700	4	C1QA	1	22965856	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	6073681	22965856	226284765	2	8554											
ARID1A	8289	broad.mit.edu	37	chr1	27106583	27106583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacaccttggttacactcgCcaacatctcggggcagttgg	10	9	10	12	2	1	0	0	0	1	0	3	0	1	0	2	4	3	3	2	4	3	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:27106583C>T	ENST00000324856.7	+	20	6565	c.6194C>T	c.(6193-6195)gCc>gTc	p.A2065V	ARID1A_ENST00000457599.2_Missense_Mutation_p.A1848V|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1682V|ARID1A_ENST00000540690.1_Missense_Mutation_p.A393V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2065					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTTACACTCGCCAACATCTCG	0.562			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								98	170					0	0	0	0	T	27106583	C	T	27106583	3	4	46	1	0	0	0	0	1	0	0	0	915	739	26	4	6272	4	ARID1A	1	27106583	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	4140727	27106583	222144038	3	8555											
AHDC1	27245	broad.mit.edu	37	chr1	27878425	27878425	+	Frame_Shift_Del	DEL	C	C	-																															tgggcgccgggtgctggggtCccggcgtgggggtgggcgtg																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:27878425delC	ENST00000374011.2	-	6	1170	c.202delG	c.(202-204)acfs	p.D68fs	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Frame_Shift_Del_p.D68fs	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	68	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTGCTGGGGTCCCGGCGTGGG	0.751													24	111	---	---	---	---					-	27878425	C	-	27878425	7	5	46	1	0	1	0	1	0	0	0	0	412	855	30	0	4613	0	AHDC1	1	27878425	Frame_Shift_Del	DEL	C	TCGA-BB-7870-01A-11D-2229-08	771842	27878425	221372196	4	8556											
MACF1	23499	broad.mit.edu	37	chr1	39889837	39889837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagagtcttgaaagtagatgGactgaactactcagtaaggc	14	9	12	6	0	2	4	1	2	1	2	2	6	2	5	0	2	2	2	0	2	5	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:39889837G>T	ENST00000564288.1	+	61	17064	c.16287G>T	c.(16285-16287)tgG>tgT	p.W5429C	MACF1_ENST00000567887.1_Missense_Mutation_p.W5466C|MACF1_ENST00000545844.1_Missense_Mutation_p.W3367C|MACF1_ENST00000361689.2_Missense_Mutation_p.W3367C|MACF1_ENST00000289893.4_Missense_Mutation_p.W3869C|MACF1_ENST00000539005.1_Missense_Mutation_p.W3346C|MACF1_ENST00000372915.3_Missense_Mutation_p.W5434C|MACF1_ENST00000317713.7_Missense_Mutation_p.W3367C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5434					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGTAGATGGACTGAACTAC	0.443													44	75					2.47872e-24	3.14805e-24	1	0	T	39889837	G	T	39889837	3	4	46	1	0	0	0	0	1	0	0	0	9209	1183	41	2	16474	2	MACF1	1	39889837	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	12011412	39889837	209360784	5	8557											
CYP4A22	284541	broad.mit.edu	37	chr1	47606535	47606535	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttattggatatggggaggCaaagttcgtgtccagctcta	9	12	12	8	1	1	0	0	0	1	0	3	2	2	2	2	4	1	3	2	4	4	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:47606535C>G	ENST00000371891.3	+	2	310	c.279C>G	c.(277-279)ggC>ggG	p.G93G	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Silent_p.G93G|CYP4A22_ENST00000294337.3_Silent_p.G93G|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	93						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATGGGGAGGCAAAGTTCGTG	0.507													74	142					0	0	0	0	G	47606535	C	G	47606535	2	3	46	1	0	0	0	0	0	0	0	1	4216	697	25	4		4	CYP4A22	1	47606535	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	7716698	47606535	201644086	6	8558											
PARS2	25973	broad.mit.edu	37	chr1	55223963	55223963	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccctggcaagcagggcagTtcatttgtgacaagtctagt	9	10	13	9	0	2	1	1	1	1	0	2	1	2	1	1	3	1	4	1	3	3	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:55223963T>C	ENST00000371279.3	-	2	954	c.872A>G	c.(871-873)aAc>aGc	p.N291S		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	291					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AGCAGGGCAGTTCATTTGTGA	0.522													53	226					0	0	0	0	C	55223963	T	C	55223963	3	2	46	1	0	0	0	0	1	0	0	0	11538	1725	60	5	559	5	PARS2	1	55223963	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	7617428	55223963	194026658	7	8559											
BRDT	676	broad.mit.edu	37	chr1	92459709	92459709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagaccacaccttcacatGtaatgccaccaaatcaccac	15	7	3	16	0	3	1	3	0	0	1	3	1	3	1	5	0	1	1	5	0	2	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:92459709G>A	ENST00000370389.2	+	15	2890	c.1966G>A	c.(1966-1968)Gta>Ata	p.V656I	BRDT_ENST00000362005.3_Missense_Mutation_p.V729I|BRDT_ENST00000399546.2_Missense_Mutation_p.V729I|BRDT_ENST00000402388.1_Missense_Mutation_p.V729I|BRDT_ENST00000394530.3_Missense_Mutation_p.V683I	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	729	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACCTTCACATGTAATGCCACC	0.363													86	125					0	0	0	0	A	92459709	G	A	92459709	3	1	46	1	0	0	0	0	1	0	0	0	1516	1377	48	4	2239	4	BRDT	1	92459709	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	37235746	92459709	156790912	8	8560											
RPAP2	79871	broad.mit.edu	37	chr1	92789439	92789439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaaagtgaatacagtaGgtcagaaataactctagtag	16	11	9	5	0	3	3	1	2	2	1	3	3	3	3	0	1	2	2	0	1	8	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:92789439G>A	ENST00000370343.3	+	8	1071	c.962G>A	c.(961-963)aGg>aAg	p.R321K	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	321						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		GAATACAGTAGGTCAGAAATA	0.348													29	145					0	0	0	0	A	92789439	G	A	92789439	3	1	46	1	0	0	0	0	1	0	0	0	13627	1000	35	4	992	4	RPAP2	1	92789439	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	329730	92789439	156461182	9	8561											
COL11A1	1301	broad.mit.edu	37	chr1	103444452	103444452	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgggacctcttgcaccTcttgaacctcgaggaccctg	7	9	10	15	1	2	1	0	1	2	0	3	4	2	3	5	2	2	1	5	2	1	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:103444452T>A	ENST00000358392.2	-	34	3026	c.2709A>T	c.(2707-2709)agA>agT	p.R903S	COL11A1_ENST00000512756.1_Missense_Mutation_p.R775S|COL11A1_ENST00000353414.4_Missense_Mutation_p.R852S|COL11A1_ENST00000370096.3_Missense_Mutation_p.R891S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	891	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCTTGCACCTCTTGAACCTC	0.398													61	104					0	0	0	0	A	103444452	T	A	103444452	3	1	46	1	0	0	0	0	1	0	0	0	3697	1548	54	5	2883	5	COL11A1	1	103444452	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	10655013	103444452	145806169	10	8562											
TSPAN2	10100	broad.mit.edu	37	chr1	115601537	115601537	+	Frame_Shift_Del	DEL	T	T	-																															gtgatgagtgtcccattgccTtttcccctgtctttaaggta																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:115601537delT	ENST00000369516.2	-	5	442	c.411delA	c.(409-411)aafs	p.K137fs	TSPAN2_ENST00000369515.2_Frame_Shift_Del_p.K112fs|TSPAN2_ENST00000369514.2_Frame_Shift_Del_p.K137fs	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	137						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCCCATTGCCTTTTCCCCTGT	0.418													7	293	---	---	---	---					-	115601537	T	-	115601537	7	5	46	1	0	1	0	1	0	0	0	0	16739	1606	56	0	270	0	TSPAN2	1	115601537	Frame_Shift_Del	DEL	T	TCGA-BB-7870-01A-11D-2229-08	12157085	115601537	133649084	11	8563											
SPAG17	200162	broad.mit.edu	37	chr1	118583438	118583438	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccctgagatttgagtgggTatatttcccatattgtatcc	9	15	9	8	0	0	2	0	2	0	1	2	4	2	2	3	1	0	2	3	1	4	7			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:118583438T>A	ENST00000336338.5	-	22	3146	c.3081A>T	c.(3079-3081)atA>atT	p.I1027I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1027						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTGAGTGGGTATATTTCCCA	0.368													31	57					0	0	0	0	A	118583438	T	A	118583438	2	1	46	1	0	0	0	0	0	0	0	1	15069	1628	57	5		5	SPAG17	1	118583438	Silent	SNP	T	TCGA-BB-7870-01A-11D-2229-08	2981901	118583438	130667183	12	8564											
IVL	3713	broad.mit.edu	37	chr1	152883950	152883950	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagacattcaaccagccctGcccacaaagggagaagtatt	15	6	8	12	0	1	2	1	0	0	2	1	3	1	2	3	1	3	1	3	1	5	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:152883950G>T	ENST00000368764.3	+	2	1741	c.1677G>T	c.(1675-1677)ctG>ctT	p.L559L	IVL_ENST00000392667.2_Silent_p.L413L			P07476	INVO_HUMAN	involucrin	559					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACCAGCCCTGCCCACAAAGG	0.587													65	109					2.02627e-32	2.71014e-32	1	0	T	152883950	G	T	152883950	2	4	46	1	0	0	0	0	0	0	0	1	7982	1306	46	4		4	IVL	1	152883950	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	34300512	152883950	96366671	13	8565											
NUP210L	91181	broad.mit.edu	37	chr1	153973462	153973462	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttgaccactcttacagaGtaaatggccaggccaggagt	13	8	11	9	0	1	2	0	1	1	1	1	3	1	3	3	3	1	2	3	3	4	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:153973462G>A	ENST00000368559.3	-	37	5327	c.5256C>T	c.(5254-5256)taC>taT	p.Y1752Y	NUP210L_ENST00000368553.1_Intron|NUP210L_ENST00000271854.3_Intron	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1752						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTCTTACAGAGTAAATGGCCA	0.478													123	216					0	0	0	0	A	153973462	G	A	153973462	2	1	46	1	0	0	0	0	0	0	0	1	10832	1024	36	4		4	NUP210L	1	153973462	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	1089512	153973462	95277159	14	8566											
DCST1	149095	broad.mit.edu	37	chr1	155023225	155023225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgctggactgcgaggccGtgtactgctggtcgtgctgg	4	9	18	10	4	0	0	0	0	0	0	1	3	0	2	1	5	4	4	1	5	1	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:155023225G>A	ENST00000295542.1	+	17	2098	c.2002G>A	c.(2002-2004)Gtg>Atg	p.V668M	DCST1_ENST00000423025.2_Missense_Mutation_p.V643M	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	668						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTGCGAGGCCGTGTACTGCTG	0.697											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	47					0	0	0	0	A	155023225	G	A	155023225	3	1	46	1	0	0	0	0	1	0	0	0	4334	1145	40	1	2064	1	DCST1	1	155023225	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	1049763	155023225	94227396	15	8567											
DAP3	7818	broad.mit.edu	37	chr1	155695220	155695220	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggtaaggaaaccagccctAgaacttctgcattacctgaa	14	9	8	10	0	1	2	0	1	1	1	1	3	1	3	3	2	5	2	3	2	6	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:155695220A>G	ENST00000368336.5	+	5	442	c.318A>G	c.(316-318)ctA>ctG	p.L106L	MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000535183.1_Silent_p.L65L|DAP3_ENST00000421487.2_Silent_p.L72L|DAP3_ENST00000343043.3_Silent_p.L106L|DAP3_ENST00000471214.1_3'UTR	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	106					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AACCAGCCCTAGAACTTCTGC	0.468													127	168					0	0	0	0	G	155695220	A	G	155695220	2	3	46	1	0	0	0	0	0	0	0	1	4267	407	15	5		5	DAP3	1	155695220	Silent	SNP	A	TCGA-BB-7870-01A-11D-2229-08	671995	155695220	93555401	16	8568											
KIAA0907	22889	broad.mit.edu	37	chr1	155899517	155899517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctcgtcttgagtctGtcctcgagtcagcaagttcc	6	12	8	15	2	4	1	2	1	2	0	8	2	6	1	4	0	1	2	4	0	1	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:155899517G>T	ENST00000368320.3	-	3	395	c.370C>A	c.(370-372)Cag>Aag	p.Q124K	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q124K|KIAA0907_ENST00000368319.3_Missense_Mutation_p.Q124K			Q7Z7F0	K0907_HUMAN	KIAA0907	124										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TCTTGAGTCTGTCCTCGAGTC	0.458													39	83					8.69298e-16	1.03064e-15	1	0	T	155899517	G	T	155899517	3	4	46	1	0	0	0	0	1	0	0	0	8250	1386	48	4	1522	4	KIAA0907	1	155899517	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	204297	155899517	93351104	17	8569											
OR10K2	391107	broad.mit.edu	37	chr1	158390470	158390470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcaagagaggatggcaaGgaagaagtacatggggatat	17	5	16	3	0	0	3	0	0	0	3	0	7	0	6	0	5	2	3	0	5	6	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:158390470G>A	ENST00000314902.2	-	1	186	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGGATGGCAAGGAAGAAGTAC	0.488													121	171					0	0	0	0	A	158390470	G	A	158390470	3	1	46	1	0	0	0	0	1	0	0	0	10985	1000	35	4	753	4	OR10K2	1	158390470	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	2490953	158390470	90860151	18	8570											
FCGR2A	2212	broad.mit.edu	37	chr1	161480736	161480736	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctactgcaggaaaaaGcggatttcaggtttgtagct	11	13	11	6	1	2	1	1	1	1	0	2	3	2	3	0	3	4	4	0	3	4	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:161480736G>A	ENST00000271450.6	+	5	770	c.732G>A	c.(730-732)aaG>aaA	p.K244K	FCGR2A_ENST00000367972.4_Silent_p.K243K|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	244						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCAGGAAAAAGCGGATTTCAG	0.522													72	539					0	0	0	0	A	161480736	G	A	161480736	2	1	46	1	0	0	0	0	0	0	0	1	5826	962	34	4		4	FCGR2A	1	161480736	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	3090266	161480736	87769885	19	8571											
ILDR2	387597	broad.mit.edu	37	chr1	166890013	166890013	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagggcaggtcgcggccgcgGtaggacgggccgcgggtcag	5	4	21	11	7	1	0	1	0	0	0	2	1	1	1	2	7	0	2	2	7	2	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:166890013G>A	ENST00000271417.3	-	9	1870	c.1815C>T	c.(1813-1815)taC>taT	p.Y605Y	ILDR2_ENST00000525740.1_Silent_p.Y478Y|ILDR2_ENST00000529071.1_Silent_p.Y586Y|ILDR2_ENST00000528703.1_Silent_p.Y546Y|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000526687.1_Silent_p.Y497Y|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	605						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CGCGGCCGCGGTAGGACGGGC	0.677													15	12					0	0	0	0	A	166890013	G	A	166890013	2	1	46	1	0	0	0	0	0	0	0	1	7763	1256	44	4		4	ILDR2	1	166890013	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	5409277	166890013	82360608	20	8572											
SLC19A2	10560	broad.mit.edu	37	chr1	169446778	169446778	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgtagatataagagtaaTaggcaatttcagtggctgtg	13	12	11	5	0	1	2	1	0	0	2	1	2	1	2	0	2	0	4	0	2	6	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:169446778T>C	ENST00000236137.5	-	2	658	c.422A>G	c.(421-423)tAt>tGt	p.Y141C	SLC19A2_ENST00000367802.3_Missense_Mutation_p.Y141C|SLC19A2_ENST00000367804.3_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	141					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					ATAAGAGTAATAGGCAATTTC	0.453													72	121					0	0	0	0	C	169446778	T	C	169446778	3	2	46	1	0	0	0	0	1	0	0	0	14517	1406	49	5	1091	5	SLC19A2	1	169446778	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	2556765	169446778	79803843	21	8573											
DNM3	26052	broad.mit.edu	37	chr1	171956858	171956858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttgatgaagttcgccttGagattgaagcagaaacagat	14	12	10	5	1	0	6	0	4	0	3	1	7	0	6	1	0	2	2	1	0	3	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:171956858G>A	ENST00000358155.4	+	3	474	c.298G>A	c.(298-300)Gag>Aag	p.E100K	DNM3_ENST00000367731.1_Missense_Mutation_p.E100K|DNM3_ENST00000355305.5_Missense_Mutation_p.E100K|DNM3_ENST00000520906.1_Missense_Mutation_p.E100K|DNM3_ENST00000367733.2_Missense_Mutation_p.E100K	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	100					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGTTCGCCTTGAGATTGAAGC	0.348													102	144					0	0	0	0	A	171956858	G	A	171956858	3	1	46	1	0	0	0	0	1	0	0	0	4709	1291	45	2	308	2	DNM3	1	171956858	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	2510080	171956858	77293763	22	8574											
RGS1	5996	broad.mit.edu	37	chr1	192544928	192544928	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctaagagcaccatgcgCgcagcagccatctccactcc	9	8	8	16	2	1	1	0	0	1	1	3	1	2	1	4	0	5	4	4	0	1	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:192544928C>A	ENST00000367459.3	+	1	72	c.6C>A	c.(4-6)cgC>cgA	p.R2R	RGS1_ENST00000469578.2_Silent_p.R2R	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	2					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GCACCATGCGCGCAGCAGCCA	0.443													62	73					9.61844e-40	1.32797e-39	1	0	A	192544928	C	A	192544928	2	1	46	1	0	0	0	0	0	0	0	1	13375	755	27	3		3	RGS1	1	192544928	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	20588070	192544928	56705693	23	8575											
KCNT2	343450	broad.mit.edu	37	chr1	196227430	196227430	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagtcgctgctgggttatTttttcagctgttttaccaga	6	18	9	8	1	2	1	2	0	0	1	3	1	2	1	1	1	3	5	1	1	2	7			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:196227430T>A	ENST00000367433.5	-	25	3134	c.3033A>T	c.(3031-3033)aaA>aaT	p.K1011N	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.K1035N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.K969N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1035						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTGGGTTATTTTTTCAGCTG	0.473													68	94					0	0	0	0	A	196227430	T	A	196227430	3	1	46	1	0	0	0	0	1	0	0	0	8145	1838	64	5	314	5	KCNT2	1	196227430	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	3682502	196227430	53023191	24	8576											
CFHR4	10877	broad.mit.edu	37	chr1	196879515	196879515	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggacaatcttactcctatTactgtgaccaaaattttgtg	12	14	6	9	0	1	1	0	1	1	0	2	2	2	2	2	1	2	0	2	1	6	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:196879515T>G	ENST00000367416.2	+	6	1038	c.901T>G	c.(901-903)Tac>Gac	p.Y301D	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.Y55D|CFHR4_ENST00000251424.4_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TTACTCCTATTACTGTGACCA	0.418													32	129					0	0	0	0	G	196879515	T	G	196879515	3	3	46	1	0	0	0	0	1	0	0	0	3316	1769	61	5		5	CFHR4	1	196879515	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	652085	196879515	52371106	25	8577											
CRB1	23418	broad.mit.edu	37	chr1	197297664	197297664	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgttcagacacagccaaTaatttggacaaagactgtga	14	11	8	8	0	2	3	1	1	1	2	2	4	2	4	1	1	1	1	1	1	3	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:197297664T>C	ENST00000367400.3	+	2	318	c.183T>C	c.(181-183)aaT>aaC	p.N61N	CRB1_ENST00000367399.2_Silent_p.N61N|CRB1_ENST00000538660.1_Silent_p.N61N|CRB1_ENST00000535699.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	61	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACACAGCCAATAATTTGGACA	0.408													51	77					0	0	0	0	C	197297664	T	C	197297664	2	2	46	1	0	0	0	0	0	0	0	1	3878	1403	49	5		5	CRB1	1	197297664	Silent	SNP	T	TCGA-BB-7870-01A-11D-2229-08	418149	197297664	51952957	26	8578											
NAV1	89796	broad.mit.edu	37	chr1	201687752	201687752	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatgcgcagccccagcaaGctcagccatatctcccgcct	8	6	7	20	2	2	0	1	0	1	0	3	0	2	0	6	0	5	3	6	0	2	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:201687752G>A	ENST00000367296.4	+	3	1515	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	NAV1_ENST00000295624.6_Silent_p.K365K|NAV1_ENST00000367300.3_Silent_p.K365K|NAV1_ENST00000367297.4_Silent_p.K365K|NAV1_ENST00000367302.1_Silent_p.K378K|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	365					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCCCCAGCAAGCTCAGCCATA	0.647													140	217					0	0	0	0	A	201687752	G	A	201687752	2	1	46	1	0	0	0	0	0	0	0	1	10253	962	34	4		4	NAV1	1	201687752	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	4390088	201687752	47562869	27	8579											
SRGAP2	23380	broad.mit.edu	37	chr1	206610339	206610339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcatgaaggaattttccGggtgtcaggatcccaggtgg	10	9	14	8	1	1	1	1	1	0	0	3	3	3	3	2	5	1	1	2	5	2	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:206610339G>T	ENST00000414007.1	+	11	1160	c.1160G>T	c.(1159-1161)cGg>cTg	p.R387L	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	527					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.R387L(1)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GGAATTTTCCGGGTGTCAGGA	0.403													96	167					1.39607e-43	1.93999e-43	1	0	T	206610339	G	T	206610339	3	4	46	1	0	0	0	0	1	0	0	0	15236	1116	39	3	1366	3	SRGAP2	1	206610339	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	4922587	206610339	42640282	28	8580											
HHAT	55733	broad.mit.edu	37	chr1	210761381	210761381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggcagcgctcaactggctgGgagtcactgtggagaatgga	9	7	17	8	1	2	1	2	0	0	1	2	4	2	3	0	5	2	3	0	5	2	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:210761381G>A	ENST00000367010.1	+	10	1410	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	HHAT_ENST00000545781.1_Missense_Mutation_p.G332R|HHAT_ENST00000545154.1_Missense_Mutation_p.G396R|HHAT_ENST00000537898.1_Missense_Mutation_p.G330R|HHAT_ENST00000413764.2_Missense_Mutation_p.G395R|HHAT_ENST00000261458.3_Missense_Mutation_p.G395R|HHAT_ENST00000541565.1_Missense_Mutation_p.G258R|HHAT_ENST00000391905.3_Missense_Mutation_p.G395R|HHAT_ENST00000367009.1_Missense_Mutation_p.G85R|HHAT_ENST00000308852.6_Missense_Mutation_p.G350R	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	395					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CAACTGGCTGGGAGTCACTGT	0.587													10	73					0	0	0	0	A	210761381	G	A	210761381	3	1	46	1	0	0	0	0	1	0	0	0	7139	1233	43	4	1315	4	HHAT	1	210761381	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	4151042	210761381	38489240	29	8581											
INTS7	25896	broad.mit.edu	37	chr1	212151805	212151805	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctcaactactgactggcTaagatggggcctgcccttgg	7	10	13	11	0	1	2	1	1	1	1	2	2	1	2	2	5	3	1	2	5	3	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:212151805T>C	ENST00000366994.3	-	11	1383	c.1279A>G	c.(1279-1281)Agc>Ggc	p.S427G	INTS7_ENST00000366992.3_Missense_Mutation_p.S427G|INTS7_ENST00000440600.2_Missense_Mutation_p.S378G|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.S427G	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	427					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ACTGACTGGCTAAGATGGGGC	0.468													70	96					0	0	0	0	C	212151805	T	C	212151805	3	2	46	1	0	0	0	0	1	0	0	0	7836	1522	53	5	1649	5	INTS7	1	212151805	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	1390424	212151805	37098816	30	8582											
USH2A	7399	broad.mit.edu	37	chr1	216371758	216371758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtatggctccaagccaGtgatggttgtcattgtttga	7	15	13	6	0	1	2	1	2	0	0	2	2	2	2	2	3	1	4	2	3	2	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:216371758G>T	ENST00000366943.2	-	18	4366	c.3980C>A	c.(3979-3981)aCt>aAt	p.T1327N	USH2A_ENST00000366942.3_Missense_Mutation_p.T1327N|USH2A_ENST00000307340.3_Missense_Mutation_p.T1327N|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1327	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCAAGCCAGTGATGGTTGT	0.448										HNSCC(13;0.011)			84	149					3.23364e-46	4.53769e-46	1	0	T	216371758	G	T	216371758	3	4	46	1	0	0	0	0	1	0	0	0	17132	1029	36	4	11862	4	USH2A	1	216371758	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	4219953	216371758	32878863	31	8583											
USH2A	7399	broad.mit.edu	37	chr1	216420335	216420335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtcccagggagggatcCagctgtgtcacagtcacagg	10	6	14	11	0	2	0	2	0	0	0	4	3	4	2	2	3	1	1	2	3	0	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:216420335C>T	ENST00000366943.2	-	13	2787	c.2401G>A	c.(2401-2403)Gga>Aga	p.G801R	USH2A_ENST00000366942.3_Missense_Mutation_p.G801R|USH2A_ENST00000307340.3_Missense_Mutation_p.G801R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	801	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGAGGGATCCAGCTGTGTCA	0.468										HNSCC(13;0.011)			78	144					0	0	0	0	T	216420335	C	T	216420335	3	4	46	1	0	0	0	0	1	0	0	0	17132	603	21	4	13461	4	USH2A	1	216420335	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	48577	216420335	32830286	32	8584											
RHOU	58480	broad.mit.edu	37	chr1	228871725	228871725	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctaccccaccgagtacaTccctactgccttcgacaact	9	8	6	18	3	0	0	0	0	0	0	2	2	1	0	5	1	5	2	5	1	4	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:228871725T>A	ENST00000366691.3	+	1	902	c.236T>A	c.(235-237)aTc>aAc	p.I79N		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	79					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				ACCGAGTACATCCCTACTGCC	0.721													35	72					0	0	0	0	A	228871725	T	A	228871725	3	1	46	1	0	0	0	0	1	0	0	0	13428	1435	50	5	238	5	RHOU	1	228871725	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	12451390	228871725	20378896	33	8585											
RYR2	6262	broad.mit.edu	37	chr1	237711838	237711838	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggcagaaaatgcacataAtgtgtgggcgcgggatcgaa	12	8	15	6	3	0	1	0	0	0	1	1	3	0	2	0	3	1	3	0	3	4	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:237711838A>T	ENST00000366574.2	+	26	3331	c.3014A>T	c.(3013-3015)aAt>aTt	p.N1005I	RYR2_ENST00000542537.1_Missense_Mutation_p.N989I|RYR2_ENST00000360064.6_Missense_Mutation_p.N1003I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1005	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATGCACATAATGTGTGGGCG	0.483													15	64					0	0	0	0	T	237711838	A	T	237711838	3	4	46	1	0	0	0	0	1	0	0	0	13854	101	4	5	3116	5	RYR2	1	237711838	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	8840113	237711838	11538783	34	8586											
SDCCAG8	10806	broad.mit.edu	37	chr1	243456392	243456392	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactggcacattttattttaGggaaacatgcacaattcttg	12	15	7	7	0	1	0	0	0	1	0	1	1	1	1	0	2	3	2	0	2	5	7			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:243456392G>A	ENST00000366541.3	+	6	664		c.e6-1		SDCCAG8_ENST00000343783.6_Splice_Site|SDCCAG8_ENST00000391846.1_Splice_Site|SDCCAG8_ENST00000355875.4_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8						establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTTTATTTTAGGGAAACATGC	0.343													78	131					0	0	0	0	A	243456392	G	A	243456392	5	1	46	1	0	0	0	0	0	0	1	0	14046	1014	35	4	568	4	SDCCAG8	1	243456392	Splice_Site	SNP	G	TCGA-BB-7870-01A-11D-2229-08	5744554	243456392	5794229	35	8587											
OR2G2	81470	broad.mit.edu	37	chr1	247751829	247751829	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttctcgtctggaaccCaagcttcatatgccgatgta	8	13	9	11	2	3	0	1	0	2	0	4	2	3	1	2	2	3	3	2	2	4	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:247751829C>A	ENST00000320065.1	+	1	168	c.168C>A	c.(166-168)ccC>ccA	p.P56P	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTCTGGAACCCAAGCTTCATA	0.438													115	173					1.67525e-54	2.41416e-54	1	0	A	247751829	C	A	247751829	2	1	46	1	0	0	0	0	0	0	0	1	11069	581	21	4		4	OR2G2	1	247751829	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	4295437	247751829	1498792	36	8588											
GREB1	9687	broad.mit.edu	37	chr2	11737977	11737977	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagctcctctcccatgtGtgttccattgcggattccag	7	12	9	13	1	1	1	0	0	1	1	5	2	4	2	4	1	2	2	4	1	1	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:11737977G>T	ENST00000381486.2	+	14	2325	c.2025G>T	c.(2023-2025)gtG>gtT	p.V675V	GREB1_ENST00000234142.5_Silent_p.V675V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	675						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCTCCCATGTGTGTTCCATTG	0.557													223	353					1.24708e-86	1.89273e-86	1	0	T	11737977	G	T	11737977	2	4	46	1	0	0	0	0	0	0	0	1	6810	1364	48	4		4	GREB1	2	11737977	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08		11737977	231461396	37	8589											
APOB	338	broad.mit.edu	37	chr2	21231538	21231538	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctggtatgtgaaggtcAggaacttgaaaatcattaag	15	12	10	4	0	3	2	2	2	1	0	3	3	3	3	0	3	1	1	0	3	7	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:21231538A>G	ENST00000233242.1	-	26	8329	c.8202T>C	c.(8200-8202)ccT>ccC	p.P2734P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2734				Missing (in Ref. 15; AAA51758).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTGAAGGTCAGGAACTTGAA	0.418													15	481					0	0	0	0	G	21231538	A	G	21231538	2	3	46	1	0	0	0	0	0	0	0	1	787	175	7	5		5	APOB	2	21231538	Silent	SNP	A	TCGA-BB-7870-01A-11D-2229-08	9493561	21231538	221967835	38	8590											
DYSF	8291	broad.mit.edu	37	chr2	71886125	71886125	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccgtatctacattgtcCgagcatttggcctgcagccc	6	12	10	13	2	1	0	0	0	1	0	3	1	3	0	4	2	4	3	4	2	2	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:71886125C>T	ENST00000258104.3	+	43	5033	c.4756C>T	c.(4756-4758)Cga>Tga	p.R1586*	DYSF_ENST00000413539.2_Nonsense_Mutation_p.R1617*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.R1625*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.R1604*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.R1618*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.R1594*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Nonsense_Mutation_p.R1608*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.R1587*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.R1624*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.R1607*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.R1603*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1586	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTACATTGTCCGAGCATTTGG	0.597													111	194					0	0	0	0	T	71886125	C	T	71886125	4	4	46	1	0	0	0	0	0	1	0	0	4895	644	23	1	5185	1	DYSF	2	71886125	Nonsense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	50654587	71886125	171313248	39	8591											
POLR1A	25885	broad.mit.edu	37	chr2	86258532	86258532	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcacagcctggacccggCgctccatggcctcgggcccc	5	4	12	20	4	0	0	0	0	0	0	2	1	1	1	6	4	1	2	6	4	0	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:86258532C>G	ENST00000263857.6	-	30	4877	c.4499G>C	c.(4498-4500)cGc>cCc	p.R1500P	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1500					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CTGGACCCGGCGCTCCATGGC	0.677													60	387					0	0	0	0	G	86258532	C	G	86258532	3	3	46	1	0	0	0	0	1	0	0	0	12281	768	27	3	683	3	POLR1A	2	86258532	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	14372407	86258532	156940841	40	8592											
AFF3	3899	broad.mit.edu	37	chr2	100203726	100203726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgatctccctgtagtcGtcttcgttgtcacactgtat	5	18	7	11	2	4	1	1	1	3	0	7	1	4	1	1	0	0	3	1	0	2	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:100203726G>A	ENST00000317233.4	-	15	2716	c.2481C>T	c.(2479-2481)gaC>gaT	p.D827D	AFF3_ENST00000409579.1_Silent_p.D852D|AFF3_ENST00000409236.1_Silent_p.D827D|AFF3_ENST00000356421.2_Silent_p.D852D	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	827					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCCTGTAGTCGTCTTCGTTGT	0.473													228	271					0	0	0	0	A	100203726	G	A	100203726	2	1	46	1	0	0	0	0	0	0	0	1	358	1136	40	1		1	AFF3	2	100203726	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	13945194	100203726	142995647	41	8593											
AFF3	3899	broad.mit.edu	37	chr2	100217970	100217970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctcggtctccgagtcagatCcggagctgctctctgagtcg	5	11	12	13	4	4	2	1	1	3	1	9	4	5	3	2	2	2	2	2	2	0	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:100217970C>T	ENST00000317233.4	-	13	1533	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	AFF3_ENST00000409579.1_Missense_Mutation_p.G458E|AFF3_ENST00000409236.1_Missense_Mutation_p.G433E|AFF3_ENST00000356421.2_Missense_Mutation_p.G458E	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	433					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGAGTCAGATCCGGAGCTGCT	0.662													17	32					0	0	0	0	T	100217970	C	T	100217970	3	4	46	1	0	0	0	0	1	0	0	0	358	855	30	2	2430	2	AFF3	2	100217970	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	14244	100217970	142981403	42	8594											
CNTNAP5	129684	broad.mit.edu	37	chr2	125555770	125555770	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcctctcatcctcagctatTtacacagattcagctccatc	10	12	4	15	0	3	1	3	0	1	1	7	1	5	1	3	0	4	2	3	0	2	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:125555770T>A	ENST00000431078.1	+	19	3451	c.3087T>A	c.(3085-3087)atT>atA	p.I1029I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1029	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTCAGCTATTTACACAGATT	0.438													28	43					0	0	0	0	A	125555770	T	A	125555770	2	1	46	1	0	0	0	0	0	0	0	1	3680	1829	64	5		5	CNTNAP5	2	125555770	Silent	SNP	T	TCGA-BB-7870-01A-11D-2229-08	25337800	125555770	117643603	43	8595											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135893466	135893466	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgggaaacttacactgctGcataatggagaacctctcta	13	10	8	10	0	1	1	0	0	1	1	2	3	1	2	1	2	5	2	1	2	5	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:135893466G>A	ENST00000264158.8	+	17	1930	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	RAB3GAP1_ENST00000539493.1_Silent_p.L585L|RAB3GAP1_ENST00000442034.1_Silent_p.L629L|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	629						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTACACTGCTGCATAATGGAG	0.418													83	139					0	0	0	0	A	135893466	G	A	135893466	2	1	46	1	0	0	0	0	0	0	0	1	13017	1306	46	4		4	RAB3GAP1	2	135893466	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	10337696	135893466	107305907	44	8596											
SPOPL	339745	broad.mit.edu	37	chr2	139308504	139308504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaacccaaagggattagatGatgaaagtaaagactacttg	18	9	9	5	0	0	4	0	2	0	2	0	5	0	5	1	1	2	1	1	1	8	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:139308504G>A	ENST00000280098.4	+	4	611	c.232G>A	c.(232-234)Gat>Aat	p.D78N		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	78	MATH.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GGGATTAGATGATGAAAGTAA	0.368													29	118					0	0	0	0	A	139308504	G	A	139308504	3	1	46	1	0	0	0	0	1	0	0	0	15175	1290	45	2	242	2	SPOPL	2	139308504	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	3415038	139308504	103890869	45	8597											
LRP1B	53353	broad.mit.edu	37	chr2	141457818	141457818	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattgaattactgtacttaCtttcaacaattacttgtctg	13	17	4	7	0	2	1	1	1	1	0	2	1	2	1	0	0	5	1	0	0	8	7			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:141457818C>A	ENST00000389484.3	-	41	7771		c.e41+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGTACTTACTTTCAACAAT	0.313										TSP Lung(27;0.18)			37	54					6.53348e-20	8.12886e-20	1	0	A	141457818	C	A	141457818	5	1	46	1	0	0	0	0	0	0	1	0	9019	579	20	4	7203	4	LRP1B	2	141457818	Splice_Site	SNP	C	TCGA-BB-7870-01A-11D-2229-08	2149314	141457818	101741555	46	8598											
LRP1B	53353	broad.mit.edu	37	chr2	141473634	141473634	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgagtcttgcaacttcAattaagttgaaaccatgatc	13	13	6	9	0	2	3	1	3	1	0	3	3	2	3	2	0	3	2	2	0	4	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:141473634A>T	ENST00000389484.3	-	37	6902	c.5931T>A	c.(5929-5931)atT>atA	p.I1977I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1977					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGCAACTTCAATTAAGTTGA	0.343										TSP Lung(27;0.18)			39	127					0	0	0	0	T	141473634	A	T	141473634	2	4	46	1	0	0	0	0	0	0	0	1	9019	126	5	5		5	LRP1B	2	141473634	Silent	SNP	A	TCGA-BB-7870-01A-11D-2229-08	15816	141473634	101725739	47	8599											
DPP4	1803	broad.mit.edu	37	chr2	162894822	162894822	+	Missense_Mutation	SNP	C	C	A																															aagtttctaccttcataaacCcagtcagttattccattata																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:162894822C>A	ENST00000360534.3	-	8	1163	c.603G>T	c.(601-603)tgG>tgT	p.W201C		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	201					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	CTTCATAAACCCAGTCAGTTA	0.279													9	52					1.33987e-11	1.478e-11	1	0	A	162894822	C	A	162894822	3	1	46	1	0	0	0	0	1	0	0	0	4765	624	22	4	1773	4	DPP4	2	162894822	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	21421188	162894822	80304551	48	8600	76	2									
DPP4	1803	broad.mit.edu	37	chr2	162894823	162894823	+	Missense_Mutation	SNP	C	C	A																															agtttctaccttcataaaccCagtcagttattccattatat																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:162894823C>A	ENST00000360534.3	-	8	1162	c.602G>T	c.(601-603)tGg>tTg	p.W201L		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	201					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TTCATAAACCCAGTCAGTTAT	0.274													9	52					1.33987e-11	1.478e-11	1	0	A	162894823	C	A	162894823	3	1	46	1	0	0	0	0	1	0	0	0	4765	595	21	4	1774	4	DPP4	2	162894823	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	1	162894823	80304550	49	8601	76	2									
TTC21B	79809	broad.mit.edu	37	chr2	166744890	166744890	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccattatgcgaagctgtaCgtgaccctgaacagtctgag	10	11	10	10	2	1	3	0	3	1	0	2	4	2	3	2	0	4	2	2	0	4	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:166744890C>G	ENST00000243344.7	-	25	3495	c.3358G>C	c.(3358-3360)Gta>Cta	p.V1120L	TTC21B_ENST00000536175.1_Missense_Mutation_p.V58L	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1120						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CGAAGCTGTACGTGACCCTGA	0.378													49	58					0	0	0	0	G	166744890	C	G	166744890	3	3	46	1	0	0	0	0	1	0	0	0	16784	536	19	3	612	3	TTC21B	2	166744890	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	3850067	166744890	76454483	50	8602											
KIAA1715	80856	broad.mit.edu	37	chr2	176812271	176812271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacacatttgatgatagggCtggagtaacagtcctttctg	11	13	10	7	0	1	2	0	2	1	0	2	3	2	3	1	2	2	2	1	2	3	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:176812271C>A	ENST00000272748.4	-	9	890	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	KIAA1715_ENST00000535310.1_Missense_Mutation_p.A140S|KIAA1715_ENST00000544803.1_Missense_Mutation_p.A215S	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	215	Pro-rich.					integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			GATGATAGGGCTGGAGTAACA	0.483													69	106					2.54232e-27	3.30733e-27	1	0	A	176812271	C	A	176812271	3	1	46	1	0	0	0	0	1	0	0	0	8305	797	28	4	663	4	KIAA1715	2	176812271	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	10067381	176812271	66387102	51	8603											
TTN	7273	broad.mit.edu	37	chr2	179566302	179566302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggttgggattggaactctgGagtcaggaatatctggaaag	11	11	15	4	0	3	0	1	0	2	0	3	5	3	5	0	6	1	1	0	6	4	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:179566302G>T	ENST00000589042.1	-	110	30775	c.30551C>A	c.(30550-30552)tCc>tAc	p.S10184Y	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8940Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S9867Y|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9867	Glu-rich.						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)			TGGAACTCTGGAGTCAGGAAT	0.418													35	79					3.76114e-14	4.36251e-14	1	0	T	179566302	G	T	179566302	3	4	46	1	0	0	0	0	1	0	0	0	16831	1174	41	2	73990	2	TTN	2	179566302	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	2754031	179566302	63633071	52	8604											
ZNF804A	91752	broad.mit.edu	37	chr2	185803442	185803462	+	In_Frame_Del	DEL	GCTGCAGCTGCTGCAGCTGCA	GCTGCAGCTGCTGCAGCTGCA	-																															acactgttttgcagcagcacGctgcagctgctgcagctgca																								rs112183442	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:185803442_185803462delGCTGCAGCTGCTGCAGCTGCA	ENST00000302277.6	+	4	3913_3933	c.3319_3339delGCTGCAGCTGCTGCAGCTGCA	c.(3319-3339)del	p.AAAAAAA1107del		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1107						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gcagcagcacgctgcagctgctgcagctgcagctgcagccg	0.538													23	227	---	---	---	---					-	185803462	GCTGCAGCTGCTGCAGCTGCA	-	185803442	7	5	46	1	0	1	0	1	0	0	0	0	18263	1087	38	0	3333	0	ZNF804A	2	185803442	In_Frame_Del	DEL	GCTGCAGCTGCTGCAGCTGCA	TCGA-BB-7870-01A-11D-2229-08	6237140	185803442	57395931	53	8605											
FASTKD2	22868	broad.mit.edu	37	chr2	207631494	207631494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagcgggctcctttttctGgaaccttagacaattcagta	11	12	8	10	1	2	1	1	0	1	1	3	2	3	2	2	2	2	2	2	2	5	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:207631494G>T	ENST00000236980.6	+	2	425	c.77G>T	c.(76-78)tGg>tTg	p.W26L	FASTKD2_ENST00000403094.3_Missense_Mutation_p.W26L|FASTKD2_ENST00000402774.3_Missense_Mutation_p.W26L	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	26					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TCCTTTTTCTGGAACCTTAGA	0.383													46	79					6.21074e-16	7.38388e-16	1	0	T	207631494	G	T	207631494	3	4	46	1	0	0	0	0	1	0	0	0	5731	1357	47	4	79	4	FASTKD2	2	207631494	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	21828052	207631494	35567879	54	8606											
DES	1674	broad.mit.edu	37	chr2	220290457	220290457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcaagaccatcgagacacGggatggggaggtaagtggtc	12	6	16	7	2	1	2	1	0	0	2	3	6	1	4	1	5	0	1	1	5	2	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:220290457G>A	ENST00000373960.3	+	8	1447	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	AC053503.6_ENST00000431827.1_RNA	NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	454	Tail.		R -> W (in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments).		cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCGAGACACGGGATGGGGAG	0.567													12	17					0	0	0	0	A	220290457	G	A	220290457	3	1	46	1	0	0	0	0	1	0	0	0	4486	1116	39	1	1391	1	DES	2	220290457	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	12658963	220290457	22908916	55	8607											
GRM7	2917	broad.mit.edu	37	chr3	6903434	6903434	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacgcgctcgaacagtcgcTtactttcgtccaggcgctca	7	11	9	14	6	1	0	1	0	0	0	5	1	2	0	1	1	3	3	1	1	3	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:6903434T>A	ENST00000486284.1	+	1	633	c.359T>A	c.(358-360)cTt>cAt	p.L120H	GRM7_ENST00000402647.2_Missense_Mutation_p.L120H|GRM7_ENST00000357716.4_Missense_Mutation_p.L120H|GRM7_ENST00000389336.4_Missense_Mutation_p.L120H|GRM7_ENST00000403881.1_Missense_Mutation_p.L120H	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	120					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			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)	GAACAGTCGCTTACTTTCGTC	0.592													34	108					0	0	0	0	A	6903434	T	A	6903434	3	1	46	1	0	0	0	0	1	0	0	0	6852	1609	56	5	361	5	GRM7	3	6903434	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08		6903434	191118996	56	8608											
CRELD1	78987	broad.mit.edu	37	chr3	9982635	9982635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgactgccaagccggctacGggggtgaggcctgtggccag	6	6	18	11	2	0	2	0	2	0	0	0	2	0	2	4	5	3	1	4	5	2	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:9982635G>A	ENST00000383811.3	+	5	1161	c.562G>A	c.(562-564)Ggg>Agg	p.G188R	CRELD1_ENST00000397170.3_Missense_Mutation_p.G188R|CRELD1_ENST00000452070.1_Missense_Mutation_p.G188R|CRELD1_ENST00000326434.5_Missense_Mutation_p.G188R	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	188	EGF-like 1.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGCCGGCTACGGGGGTGAGGC	0.632													94	95					0	0	0	0	A	9982635	G	A	9982635	3	1	46	1	0	0	0	0	1	0	0	0	3896	1116	39	1	580	1	CRELD1	3	9982635	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	3079201	9982635	188039795	57	8609											
ARIH2	10425	broad.mit.edu	37	chr3	49011181	49011181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagactgtgccacaatcCggaaatggctcacgaagtgt	12	7	10	12	2	1	1	1	0	0	1	2	3	2	2	3	2	1	1	3	2	3	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:49011181C>T	ENST00000356401.4	+	9	1159	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	ARIH2_ENST00000449376.1_Missense_Mutation_p.R274W|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	274					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TGCCACAATCCGGAAATGGCT	0.423													32	84					0	0	0	0	T	49011181	C	T	49011181	3	4	46	1	0	0	0	0	1	0	0	0	926	643	23	1	846	1	ARIH2	3	49011181	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	39028546	49011181	149011249	58	8610											
RAD54L2	23132	broad.mit.edu	37	chr3	51669721	51669721	+	Frame_Shift_Del	DEL	G	G	-																															tgaagaaatcatttgccacaGgtagaccgaagaaaaccaag																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:51669721delG	ENST00000409535.1	+	9	1380	c.1255delG	c.(1255-1257)gtfs	p.G419fs	RAD54L2_ENST00000296477.3_Frame_Shift_Del_p.G113fs	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	419	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ATTTGCCACAGGTAGACCGAA	0.517													26	34	---	---	---	---					-	51669721	G	-	51669721	7	5	46	1	0	1	0	1	0	0	0	0	13076	1000	35	0	1285	0	RAD54L2	3	51669721	Frame_Shift_Del	DEL	G	TCGA-BB-7870-01A-11D-2229-08	2658540	51669721	146352709	59	8611											
MAGI1	9223	broad.mit.edu	37	chr3	65376898	65376898	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccagagctgtcagtttgatCtggagcttgggcctctgcag	6	11	14	10	0	3	2	1	1	2	1	3	3	3	3	2	2	3	4	2	2	0	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:65376898C>G	ENST00000330909.8	-	14	2334	c.2335G>C	c.(2335-2337)Gat>Cat	p.D779H	MAGI1_ENST00000483466.1_Missense_Mutation_p.D779H|MAGI1_ENST00000402939.2_Missense_Mutation_p.D779H|MAGI1_ENST00000497477.2_Missense_Mutation_p.D779H	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	779					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCAGTTTGATCTGGAGCTTGG	0.552													50	121					0	0	0	0	G	65376898	C	G	65376898	3	3	46	1	0	0	0	0	1	0	0	0	9259	913	32	2	2327	2	MAGI1	3	65376898	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	13707177	65376898	132645532	60	8612											
GPR128	84873	broad.mit.edu	37	chr3	100352189	100352189	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtgacaataggaaatTgcaatgaaaatctggaaacc	21	7	8	5	0	1	2	0	2	1	0	1	4	1	4	1	2	2	1	1	2	9	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:100352189T>C	ENST00000273352.3	+	4	683	c.415T>C	c.(415-417)Tgc>Cgc	p.C139R		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	139					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATAGGAAATTGCAATGAAAA	0.408													5	70					0	0	0	0	C	100352189	T	C	100352189	3	2	46	1	0	0	0	0	1	0	0	0	6690	1812	63	5	429	5	GPR128	3	100352189	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	34975291	100352189	97670241	61	8613											
NFKBIZ	64332	broad.mit.edu	37	chr3	101571589	101571589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttttctttatagacacaagGtgtgaacatagaacagttca	14	14	7	6	0	2	3	1	1	1	2	2	3	2	3	0	1	2	1	0	1	6	7			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:101571589G>T	ENST00000326172.5	+	3	552	c.437G>T	c.(436-438)gGt>gTt	p.G146V	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G146V|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G46V	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TAGACACAAGGTGTGAACATA	0.308													26	80					6.32553e-13	7.20034e-13	1	0	T	101571589	G	T	101571589	3	4	46	1	0	0	0	0	1	0	0	0	10453	1261	44	4	447	4	NFKBIZ	3	101571589	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	1219400	101571589	96450841	62	8614											
DZIP3	9666	broad.mit.edu	37	chr3	108394684	108394685	+	Frame_Shift_Del	DEL	TG	TG	-																															gtagacagttggaatgccatTgtggcagatgttagaaacaa																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:108394684_108394685delTG	ENST00000361582.3	+	25	2975_2976	c.2745_2746delTG	c.(2743-2748)attgfs	p.IV915fs	DZIP3_ENST00000463306.1_Frame_Shift_Del_p.IV915fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	915					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GGAATGCCATTGTGGCAGATGT	0.371													13	54	---	---	---	---					-	108394685	TG	-	108394684	7	5	46	1	0	1	0	1	0	0	0	0	4901	1800	63	0	2839	0	DZIP3	3	108394684	Frame_Shift_Del	DEL	TG	TCGA-BB-7870-01A-11D-2229-08	6823095	108394684	89627746	63	8615											
SIDT1	54847	broad.mit.edu	37	chr3	113320475	113320475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcatcccattgctgccagCacacccgaagggagcaatta	11	8	8	14	1	1	0	1	0	1	0	3	2	2	1	3	1	4	3	3	1	3	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:113320475C>A	ENST00000264852.4	+	11	1812	c.1086C>A	c.(1084-1086)agC>agA	p.S362R	SIDT1_ENST00000393830.3_Missense_Mutation_p.S362R	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	362						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TTGCTGCCAGCACACCCGAAG	0.418													29	29					2.65835e-16	3.17813e-16	1	0	A	113320475	C	A	113320475	3	1	46	1	0	0	0	0	1	0	0	0	14390	709	25	4	1128	4	SIDT1	3	113320475	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	4925791	113320475	84701955	64	8616											
SEMA5B	54437	broad.mit.edu	37	chr3	122645426	122645426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcacacgcgggccacgcGagagtacacggtgcgtccac	8	5	13	15	6	0	1	0	0	0	1	1	2	1	1	2	2	3	2	2	2	1	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:122645426G>T	ENST00000195173.4	-	9	1252	c.949C>A	c.(949-951)Cgc>Agc	p.R317S	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R371S|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R317S			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	317	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGGGCCACGCGAGAGTACACG	0.602													17	62					1.99824e-07	2.10651e-07	1	0	T	122645426	G	T	122645426	3	4	46	1	0	0	0	0	1	0	0	0	14125	1058	37	3	2566	3	SEMA5B	3	122645426	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	9324951	122645426	75377004	65	8617											
SLCO2A1	6578	broad.mit.edu	37	chr3	133672526	133672526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgttgaccctgccataGtccacaaagatctgcagcat	10	10	8	13	0	1	2	0	1	1	1	2	2	2	2	4	0	3	3	4	0	2	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:133672526G>T	ENST00000310926.4	-	5	978	c.705C>A	c.(703-705)gaC>gaA	p.D235E	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.D159E	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	235					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CCCTGCCATAGTCCACAAAGA	0.527													24	94					1.64293e-13	1.88519e-13	1	0	T	133672526	G	T	133672526	3	4	46	1	0	0	0	0	1	0	0	0	14814	1020	36	4	1266	4	SLCO2A1	3	133672526	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	11027100	133672526	64349904	66	8618											
AGTR1	185	broad.mit.edu	37	chr3	148459143	148459143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaagattgcttcagccagCgtcagtttcaacctgtacgc	9	12	9	11	2	3	1	3	0	0	1	3	1	3	1	2	0	5	4	2	0	3	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:148459143C>A	ENST00000542281.1	+	4	767	c.321C>A	c.(319-321)agC>agA	p.S107R	AGTR1_ENST00000474935.1_Missense_Mutation_p.S107R|AGTR1_ENST00000497524.1_Missense_Mutation_p.S107R|AGTR1_ENST00000404754.2_Missense_Mutation_p.S107R|AGTR1_ENST00000475347.1_Missense_Mutation_p.S107R|AGTR1_ENST00000402260.1_Missense_Mutation_p.S107R|AGTR1_ENST00000418473.2_Missense_Mutation_p.S107R|AGTR1_ENST00000349243.3_Missense_Mutation_p.S107R|AGTR1_ENST00000461609.1_Missense_Mutation_p.S107R	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	107					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CTTCAGCCAGCGTCAGTTTCA	0.473													99	100					8.68486e-57	1.26433e-56	1	0	A	148459143	C	A	148459143	3	1	46	1	0	0	0	0	1	0	0	0	401	767	27	3	323	3	AGTR1	3	148459143	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	14786617	148459143	49563287	67	8619											
CP	1356	broad.mit.edu	37	chr3	148925398	148925398	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacttccaaaagtgtatccaTtcacagctgtaagtcaagag	14	10	8	9	0	2	1	2	0	0	1	4	2	4	1	2	0	1	3	2	0	5	4	rs150303869	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:148925398T>C	ENST00000264613.6	-	5	1050	c.788A>G	c.(787-789)aAt>aGt	p.N263S		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	263	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGTGTATCCATTCACAGCTGT	0.398													31	99					0	0	0	0	C	148925398	T	C	148925398	3	2	46	1	0	0	0	0	1	0	0	0	3817	1493	52	5	2469	5	CP	3	148925398	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	466255	148925398	49097032	68	8620											
NAALADL2	254827	broad.mit.edu	37	chr3	175293828	175293828	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttaaattatgtttttcaGaaaaataatttcaactgtac	17	17	3	4	0	2	1	2	0	0	1	2	1	2	1	0	0	2	2	0	0	9	8			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:175293828G>C	ENST00000454872.1	+	10	1781		c.e10-1		NAALADL2_ENST00000473253.1_Splice_Site	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2						proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ATGTTTTTCAGAAAAATAATT	0.378													14	37					0	0	0	0	C	175293828	G	C	175293828	5	2	46	1	0	0	0	0	0	0	1	0	10200	956	33	2	1691	2	NAALADL2	3	175293828	Splice_Site	SNP	G	TCGA-BB-7870-01A-11D-2229-08	26368430	175293828	22728602	69	8621											
PSMD2	5708	broad.mit.edu	37	chr3	184024591	184024591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgggggaggagattggtgCagagatggcattacgaacct	11	9	16	5	1	0	2	0	0	0	2	0	6	0	3	1	5	3	2	1	5	3	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:184024591C>T	ENST00000310118.4	+	16	2561	c.2003C>T	c.(2002-2004)gCa>gTa	p.A668V	PSMD2_ENST00000439383.1_Missense_Mutation_p.A538V|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.A509V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	668					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GAGATTGGTGCAGAGATGGCA	0.458													108	127					0	0	0	0	T	184024591	C	T	184024591	3	4	46	1	0	0	0	0	1	0	0	0	12777	710	25	4	2065	4	PSMD2	3	184024591	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	8730763	184024591	13997839	70	8622											
MAP3K13	9175	broad.mit.edu	37	chr3	185167779	185167779	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctggggtgttggaagcAacagcctccaccttccagtt	8	12	10	11	0	1	0	0	0	1	0	3	1	3	1	4	3	3	3	4	3	3	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:185167779A>T	ENST00000265026.3	+	6	1436	c.1102A>T	c.(1102-1104)Aac>Tac	p.N368Y	MAP3K13_ENST00000535426.1_Missense_Mutation_p.N224Y|MAP3K13_ENST00000424227.1_Missense_Mutation_p.N368Y|MAP3K13_ENST00000446828.1_Missense_Mutation_p.N161Y|MAP3K13_ENST00000443863.1_Missense_Mutation_p.N224Y	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	368	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGTTGGAAGCAACAGCCTCCA	0.453													110	96					0	0	0	0	T	185167779	A	T	185167779	3	4	46	1	0	0	0	0	1	0	0	0	9316	130	5	5	1120	5	MAP3K13	3	185167779	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	1143188	185167779	12854651	71	8623											
ATP13A4	84239	broad.mit.edu	37	chr3	193160195	193160195	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtacctgattcccatacAtaatgtgtttcttctcttct	8	17	6	10	0	3	1	0	1	3	0	5	2	4	2	2	1	2	2	2	1	3	7			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:193160195A>T	ENST00000342695.4	-	19	2625	c.2303T>A	c.(2302-2304)aTg>aAg	p.M768K	ATP13A4_ENST00000392443.3_Missense_Mutation_p.M749K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	768					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATTCCCATACATAATGTGTTT	0.428													21	51					0	0	0	0	T	193160195	A	T	193160195	3	4	46	1	0	0	0	0	1	0	0	0	1130	217	8	5	1335	5	ATP13A4	3	193160195	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	7992416	193160195	4862235	72	8624											
ZNF595	152687	broad.mit.edu	37	chr4	59391	59391	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaaatgtctggaccctgcCcagcagaatttgtatagaga	12	10	11	8	0	1	2	0	0	1	2	1	5	1	4	2	2	2	2	2	2	4	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:59391C>A	ENST00000509152.2	+	2	257	c.72C>A	c.(70-72)gcC>gcA	p.A24A	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.A24A					zinc finger protein 595									p.A24A(2)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGGACCCTGCCCAGCAGAATT	0.428													49	923					1.7489e-18	2.12048e-18	1	0	A	59391	C	A	59391	2	1	46	1	0	0	0	0	0	0	0	1	18120	610	22	4		4	ZNF595	4	59391	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08		59391	191094885	73	8625											
S100P	6286	broad.mit.edu	37	chr4	6698621	6698621	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctctctctcctctagaGtggaaaagacaaggatgccg	11	8	11	11	1	3	2	0	0	3	2	5	5	3	4	3	2	2	0	3	2	4	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:6698621G>A	ENST00000296370.3	+	2	1004	c.138_splice	c.e2-1	p.S47_splice	S100P_ENST00000513778.1_3'UTR	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	47	EF-hand 1.				endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicate(DB01003)	CTCCTCTAGAGTGGAAAAGAC	0.567													25	570					0	0	0	0	A	6698621	G	A	6698621	5	1	46	1	0	0	0	0	0	0	1	0	13875	1043	36	4	146	4	S100P	4	6698621	Splice_Site	SNP	G	TCGA-BB-7870-01A-11D-2229-08	6639230	6698621	184455655	74	8626											
ZNF518B	85460	broad.mit.edu	37	chr4	10447135	10447135	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtaacaacatgatattgTgcattttgtctttatttgca	11	17	7	6	0	1	1	0	1	1	0	1	1	1	1	0	1	4	3	0	1	4	8			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:10447135T>C	ENST00000326756.3	-	3	1256	c.818A>G	c.(817-819)cAc>cGc	p.H273R		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CATGATATTGTGCATTTTGTC	0.373													193	297					0	0	0	0	C	10447135	T	C	10447135	3	2	46	1	0	0	0	0	1	0	0	0	18058	1696	59	5	2410	5	ZNF518B	4	10447135	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	3748514	10447135	180707141	75	8627											
SLIT2	9353	broad.mit.edu	37	chr4	20620619	20620619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagtgcggctgtacgaGgtgtgtgtcctaaacacact	9	10	14	8	2	0	1	0	1	0	0	1	2	1	1	1	3	3	2	1	3	4	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:20620619G>T	ENST00000504154.1	+	37	4829	c.4577G>T	c.(4576-4578)aGg>aTg	p.R1526M	SLIT2_ENST00000273739.5_Missense_Mutation_p.R1539M|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1522M|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1518M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1526	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.R1526T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGCTGTACGAGGTGTGTGTCC	0.498													24	109					2.12542e-12	2.38136e-12	1	0	T	20620619	G	T	20620619	3	4	46	1	0	0	0	0	1	0	0	0	14828	1000	35	4	4723	4	SLIT2	4	20620619	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	10173484	20620619	170533657	76	8628											
PPARGC1A	10891	broad.mit.edu	37	chr4	23816147	23816147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggcaccacagtcttgCaagaggacttcagctttgga	9	10	13	9	0	2	1	1	0	1	1	2	3	2	3	1	4	2	3	1	4	1	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:23816147C>A	ENST00000264867.2	-	8	1078	c.959G>T	c.(958-960)tGc>tTc	p.C320F	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	320	Interaction with PPARG.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CACAGTCTTGCAAGAGGACTT	0.488													84	136					6.71967e-41	9.3075e-41	1	0	A	23816147	C	A	23816147	3	1	46	1	0	0	0	0	1	0	0	0	12371	710	25	4	1461	4	PPARGC1A	4	23816147	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	3195528	23816147	167338129	77	8629											
PPARGC1A	10891	broad.mit.edu	37	chr4	23891570	23891570	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcctggttgcacatgTcccacgccatccagctcctg	7	9	9	16	1	0	1	0	0	0	1	4	1	4	1	5	1	2	3	5	1	0	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:23891570T>A	ENST00000264867.2	-	1	130	c.11A>T	c.(10-12)gAc>gTc	p.D4V	PPARGC1A_ENST00000507380.1_Missense_Mutation_p.D4V	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	4					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GTTGCACATGTCCCACGCCAT	0.562													68	124					0	0	0	0	A	23891570	T	A	23891570	3	1	46	1	0	0	0	0	1	0	0	0	12371	1667	58	5	2437	5	PPARGC1A	4	23891570	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	75423	23891570	167262706	78	8630											
PGM2	55276	broad.mit.edu	37	chr4	37848718	37848718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccattgccttaaaggaaGgttttcattttgaggtaggg	9	13	14	5	0	1	1	1	1	0	0	1	2	1	2	2	5	1	2	2	5	4	7			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:37848718G>A	ENST00000381967.4	+	9	1274	c.1174G>A	c.(1174-1176)Ggt>Agt	p.G392S	PGM2_ENST00000537241.1_Missense_Mutation_p.G232S|PGM2_ENST00000544359.1_Missense_Mutation_p.G253S	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	392					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CTTAAAGGAAGGTTTTCATTT	0.448													106	173					0	0	0	0	A	37848718	G	A	37848718	3	1	46	1	0	0	0	0	1	0	0	0	11870	1000	35	4	1208	4	PGM2	4	37848718	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	13957148	37848718	153305558	79	8631											
PDS5A	23244	broad.mit.edu	37	chr4	39921964	39921964	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgcatgcctcaatagtcTggactgttcttttcaatagc	10	14	7	10	0	4	0	2	0	2	0	4	1	4	1	1	1	3	2	1	1	5	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:39921964T>C	ENST00000303538.8	-	7	1249	c.710A>G	c.(709-711)cAg>cGg	p.Q237R	PDS5A_ENST00000503396.1_Missense_Mutation_p.Q237R	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	237					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTCAATAGTCTGGACTGTTCT	0.259													13	72					0	0	0	0	C	39921964	T	C	39921964	3	2	46	1	0	0	0	0	1	0	0	0	11762	1580	55	5	3444	5	PDS5A	4	39921964	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	2073246	39921964	151232312	80	8632											
ATP8A1	10396	broad.mit.edu	37	chr4	42448632	42448632	+	Frame_Shift_Del	DEL	C	C	-																															gtttcccagtagcagataatCcgaggttttcccatttccaa																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:42448632delC	ENST00000381668.5	-	31	3157	c.2926delG	c.(2926-2928)atfs	p.D976fs	ATP8A1_ENST00000264449.10_Frame_Shift_Del_p.D961fs	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	976					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGCAGATAATCCGAGGTTTTC	0.388													32	66	---	---	---	---					-	42448632	C	-	42448632	7	5	46	1	0	1	0	1	0	0	0	0	1196	855	30	0	596	0	ATP8A1	4	42448632	Frame_Shift_Del	DEL	C	TCGA-BB-7870-01A-11D-2229-08	2526668	42448632	148705644	81	8633											
ATP10D	57205	broad.mit.edu	37	chr4	47538808	47538808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaatgaaaaaatggattctAttgttcagtgccgagccctg	13	11	9	8	1	2	1	1	1	1	0	2	3	2	2	2	1	2	1	2	1	5	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:47538808A>G	ENST00000273859.3	+	9	1518	c.1249A>G	c.(1249-1251)Att>Gtt	p.I417V	ATP10D_ENST00000504445.1_Missense_Mutation_p.I402V	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	417					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AATGGATTCTATTGTTCAGTG	0.393													24	44					0	0	0	0	G	47538808	A	G	47538808	3	3	46	1	0	0	0	0	1	0	0	0	1122	449	16	5	1279	5	ATP10D	4	47538808	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	5090176	47538808	143615468	82	8634											
SPATA18	132671	broad.mit.edu	37	chr4	52943089	52943089	+	Silent	SNP	C	C	A																															aatgtggcgcgcaaggctgcCctcttgtcccggttcagcga																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:52943089C>A	ENST00000295213.4	+	7	1277	c.903C>A	c.(901-903)gcC>gcA	p.A301A	SPATA18_ENST00000419395.2_Silent_p.A269A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	301	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCAAGGCTGCCCTCTTGTCCC	0.652													15	104					6.72482e-11	7.34241e-11	1	0	A	52943089	C	A	52943089	2	1	46	1	0	0	0	0	0	0	0	1	15093	610	22	4		4	SPATA18	4	52943089	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	5404281	52943089	138211187	83	8635	77	2									
SPATA18	132671	broad.mit.edu	37	chr4	52943090	52943090	+	Missense_Mutation	SNP	C	C	T																															atgtggcgcgcaaggctgccCtcttgtcccggttcagcgat																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:52943090C>T	ENST00000295213.4	+	7	1278	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F	SPATA18_ENST00000419395.2_Missense_Mutation_p.L270F	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	302	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAAGGCTGCCCTCTTGTCCCG	0.647													14	106					0	0	0	0	T	52943090	C	T	52943090	3	4	46	1	0	0	0	0	1	0	0	0	15093	681	24	4	930	4	SPATA18	4	52943090	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	1	52943090	138211186	84	8636	77	2									
SCFD2	152579	broad.mit.edu	37	chr4	54231626	54231626	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaaagtggggagcaacaggGgcaagcaataacgggacatg	15	3	16	7	1	0	0	0	0	0	0	0	2	0	2	0	5	4	4	0	5	5	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:54231626G>T	ENST00000401642.3	-	1	616	c.483C>A	c.(481-483)gcC>gcA	p.A161A	SCFD2_ENST00000388940.4_Silent_p.A161A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	161					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAGCAACAGGGGCAAGCAATA	0.567													17	111					5.3912e-06	5.60057e-06	1	0	T	54231626	G	T	54231626	2	4	46	1	0	0	0	0	0	0	0	1	13976	1219	43	4		4	SCFD2	4	54231626	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	1288536	54231626	136922650	85	8637											
KIT	3815	broad.mit.edu	37	chr4	55599309	55599309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacaaagatttgtgattttgGtctagccagagacatcaaga	14	11	9	7	0	2	4	1	1	1	3	2	5	2	4	1	1	1	0	1	1	3	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:55599309G>T	ENST00000288135.5	+	17	2532	c.2435G>T	c.(2434-2436)gGt>gTt	p.G812V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	812	Protein kinase.		G -> V (in PBT).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTGATTTTGGTCTAGCCAGA	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				81	121					1.4051e-37	1.91524e-37	1	0	T	55599309	G	T	55599309	3	4	46	1	0	0	0	0	1	0	0	0	8381	1261	44	4	2501	4	KIT	4	55599309	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	1367683	55599309	135554967	86	8638											
UGT2B15	7366	broad.mit.edu	37	chr4	69535643	69535643	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actataaaactggtcccactTcttcagatcataaatttgaa	15	13	4	9	0	3	2	2	1	1	1	4	2	4	2	1	1	1	0	1	1	6	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:69535643T>A	ENST00000338206.5	-	1	703	c.694A>T	c.(694-696)Aag>Tag	p.K232*		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	232					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TGGTCCCACTTCTTCAGATCA	0.313													54	290					0	0	0	0	A	69535643	T	A	69535643	4	1	46	1	0	0	0	0	0	1	0	0	17054	1792	62	5	2539	5	UGT2B15	4	69535643	Nonsense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	13936334	69535643	121618633	87	8639											
SLC4A4	8671	broad.mit.edu	37	chr4	72363397	72363397	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattcaaaactagtccttaTtttccaaccacagtaagtac	16	12	3	10	0	1	0	1	0	0	0	3	0	3	0	3	0	3	2	3	0	8	7			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:72363397T>C	ENST00000340595.3	+	13	2218	c.2022T>C	c.(2020-2022)taT>taC	p.Y674Y	SLC4A4_ENST00000351898.6_Silent_p.Y718Y|SLC4A4_ENST00000264485.5_Silent_p.Y718Y|SLC4A4_ENST00000425175.1_Silent_p.Y718Y	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	718						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CTAGTCCTTATTTTCCAACCA	0.343													83	77					0	0	0	0	C	72363397	T	C	72363397	2	2	46	1	0	0	0	0	0	0	0	1	14744	1500	52	5		5	SLC4A4	4	72363397	Silent	SNP	T	TCGA-BB-7870-01A-11D-2229-08	2827754	72363397	118790879	88	8640											
ANKRD17	26057	broad.mit.edu	37	chr4	73957509	73957509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgattgctatggcgaggcaCcatgtgaggcttaggcgagt	8	10	15	8	2	0	2	0	2	0	0	0	4	0	2	1	4	1	3	1	4	2	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:73957509C>T	ENST00000358602.4	-	29	5952	c.5836G>A	c.(5836-5838)Gtg>Atg	p.V1946M	ANKRD17_ENST00000330838.6_Missense_Mutation_p.V1695M|ANKRD17_ENST00000509867.2_Missense_Mutation_p.V1833M	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1946					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGCGAGGCACCATGTGAGGC	0.498													45	330					0	0	0	0	T	73957509	C	T	73957509	3	4	46	1	0	0	0	0	1	0	0	0	646	507	18	4	1999	4	ANKRD17	4	73957509	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	1594112	73957509	117196767	89	8641											
FAM13A	10144	broad.mit.edu	37	chr4	89660260	89660261	+	Frame_Shift_Ins	INS	-	-	GTTCG																															tagtggcttcatcacctgccINSgttcgttctttgttacctga																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:89660260_89660261insGTTCG	ENST00000264344.5	-	20	2689_2690	c.2482_2483insCGAAC	c.(2482-2484)gcafs	p.A828fs	FAM13A_ENST00000508369.1_Frame_Shift_Ins_p.A502fs|FAM13A_ENST00000503556.1_Frame_Shift_Ins_p.A488fs|FAM13A_ENST00000511976.1_Frame_Shift_Ins_p.A414fs|FAM13A_ENST00000513837.1_Frame_Shift_Ins_p.A474fs|FAM13A_ENST00000395002.2_Frame_Shift_Ins_p.A502fs	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	828					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CATCACCTGCCGTTCGTTCTTT	0.49													16	275	---	---	---	---					GTTCG	89660261	-	GTTCG	89660260	7	5	46	1	0	1	1	0	0	0	0	0	5493	652	23	0	608	0	FAM13A	4	89660260	Frame_Shift_Ins	INS	-	TCGA-BB-7870-01A-11D-2229-08	15702751	89660260	101494016	90	8642											
FAT4	79633	broad.mit.edu	37	chr4	126337709	126337709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcagccagtggagaacttgGagtaacacagagtctggatc	12	8	12	9	0	2	2	1	0	1	2	3	5	2	4	1	3	3	1	1	3	2	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:126337709G>T	ENST00000394329.3	+	6	6963	c.6950G>T	c.(6949-6951)gGa>gTa	p.G2317V	FAT4_ENST00000335110.5_Missense_Mutation_p.G615V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2317	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGAACTTGGAGTAACACAG	0.413													172	83					4.39862e-68	6.51421e-68	1	0	T	126337709	G	T	126337709	3	4	46	1	0	0	0	0	1	0	0	0	5737	1174	41	2	6972	2	FAT4	4	126337709	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	36677449	126337709	64816567	91	8643											
ZNF330	27309	broad.mit.edu	37	chr4	142150788	142150788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatgtctcagtacacatGcttgtgcctgccctcttacc	8	12	8	13	0	2	0	1	0	2	0	3	1	2	1	3	1	5	2	3	1	3	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:142150788G>T	ENST00000262990.4	+	6	583	c.355G>T	c.(355-357)Gct>Tct	p.A119S	ZNF330_ENST00000421169.2_Missense_Mutation_p.A59S	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	119						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CAGTACACATGCTTGTGCCTG	0.443													201	102					2.16601e-92	3.29911e-92	1	0	T	142150788	G	T	142150788	3	4	46	1	0	0	0	0	1	0	0	0	17943	1319	46	4	373	4	ZNF330	4	142150788	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	15813079	142150788	49003488	92	8644											
FBXW7	55294	broad.mit.edu	37	chr4	153247366	153247366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccctaagagtggcatctCgagaaccgctaacaactctg	14	7	8	12	2	2	2	0	0	2	2	3	3	2	2	2	1	4	2	2	1	5	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:153247366C>A	ENST00000281708.4	-	10	2665	c.1436G>T	c.(1435-1437)cGa>cTa	p.R479L	FBXW7_ENST00000603548.1_Missense_Mutation_p.R479L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303L|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361L|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								71	44					2.94884e-30	3.88339e-30	1	0	A	153247366	C	A	153247366	3	1	46	1	0	0	0	0	1	0	0	0	5814	884	31	3	699	3	FBXW7	4	153247366	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	11096578	153247366	37906910	93	8645											
IRX1	79192	broad.mit.edu	37	chr5	3599660	3599660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagcgcgcagcaaggacCaggaagatggagcgctcttc	10	4	17	10	3	1	1	0	0	1	1	2	5	1	5	1	5	3	3	1	5	2	1	rs143830823	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:3599660C>A	ENST00000302006.3	+	2	650	c.598C>A	c.(598-600)Cag>Aag	p.Q200K	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	200						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAGCAAGGACCAGGAAGATGG	0.622													77	120					6.06247e-24	7.65409e-24	1	0	A	3599660	C	A	3599660	3	1	46	1	0	0	0	0	1	0	0	0	7896	595	21	4	604	4	IRX1	5	3599660	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08		3599660	177315600	94	8646											
ADCY2	108	broad.mit.edu	37	chr5	7690829	7690829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgctctccctgctgcCggcccacatcgccatggaga	5	9	10	17	2	2	1	0	0	2	1	4	2	2	1	4	2	3	3	4	2	0	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:7690829C>G	ENST00000338316.4	+	5	835	c.746C>G	c.(745-747)cCg>cGg	p.P249R	ADCY2_ENST00000537121.1_Missense_Mutation_p.P69R|ADCY2_ENST00000513693.1_3'UTR	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	249					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCCCTGCTGCCGGCCCACATC	0.557													26	56					0	0	0	0	G	7690829	C	G	7690829	3	3	46	1	0	0	0	0	1	0	0	0	294	652	23	3	764	3	ADCY2	5	7690829	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	4091169	7690829	173224431	95	8647											
CTNND2	1501	broad.mit.edu	37	chr5	11199589	11199589	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccggatctccaggtcaGtcgtcttgcggagtaacctc	6	10	11	14	3	3	0	1	0	2	0	7	2	4	2	3	3	2	2	3	3	1	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:11199589G>C	ENST00000304623.8	-	11	2135	c.1946C>G	c.(1945-1947)aCt>aGt	p.T649S	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.T649S|CTNND2_ENST00000503622.1_Missense_Mutation_p.T312S|CTNND2_ENST00000511377.1_Missense_Mutation_p.T558S|CTNND2_ENST00000458100.2_Missense_Mutation_p.T216S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	649					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCCAGGTCAGTCGTCTTGCG	0.428													103	240					0	0	0	0	C	11199589	G	C	11199589	3	2	46	1	0	0	0	0	1	0	0	0	4052	1029	36	4	1779	4	CTNND2	5	11199589	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	3508760	11199589	169715671	96	8648											
CDH18	1016	broad.mit.edu	37	chr5	19571723	19571723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactgtcaggatcttgtgcCaaaactgtaccaacgacggt	11	10	10	10	2	2	0	1	0	1	0	2	2	2	1	2	2	5	2	2	2	5	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:19571723C>T	ENST00000507958.1	-	10	2208	c.1218G>A	c.(1216-1218)ttG>ttA	p.L406L	CDH18_ENST00000502796.1_Silent_p.L406L|CDH18_ENST00000511273.1_Silent_p.L406L|CDH18_ENST00000382275.1_Silent_p.L406L|CDH18_ENST00000506372.1_Silent_p.L406L|CDH18_ENST00000274170.4_Silent_p.L406L			Q13634	CAD18_HUMAN	cadherin 18, type 2	406	Cadherin 4.				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)					GATCTTGTGCCAAAACTGTAC	0.403													50	107					0	0	0	0	T	19571723	C	T	19571723	2	4	46	1	0	0	0	0	0	0	0	1	3132	593	21	4		4	CDH18	5	19571723	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	8372134	19571723	161343537	97	8649											
CDH10	1008	broad.mit.edu	37	chr5	24511546	24511546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcagcatttttcccagTgtcagcatcagttgctttga	8	16	7	10	0	3	1	3	1	0	0	4	1	4	1	1	0	4	4	1	0	1	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:24511546T>C	ENST00000264463.4	-	6	1399	c.892A>G	c.(892-894)Act>Gct	p.T298A		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	298	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTTTCCCAGTGTCAGCATCA	0.423										HNSCC(23;0.051)			16	172					0	0	0	0	C	24511546	T	C	24511546	3	2	46	1	0	0	0	0	1	0	0	0	3125	1696	59	5	1502	5	CDH10	5	24511546	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	4939823	24511546	156403714	98	8650											
CDH6	1004	broad.mit.edu	37	chr5	31323308	31323308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagctcgctggagtcaGtgaccacggatgcagatcaa	10	7	12	12	2	2	3	2	2	0	1	3	5	2	5	2	2	2	3	2	2	1	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:31323308G>T	ENST00000265071.2	+	12	2531	c.2266G>T	c.(2266-2268)Gtg>Ttg	p.V756L		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	756					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTGGAGTCAGTGACCACGGA	0.532													58	107					7.36392e-32	9.75777e-32	1	0	T	31323308	G	T	31323308	3	4	46	1	0	0	0	0	1	0	0	0	3143	1029	36	4	2308	4	CDH6	5	31323308	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	6811762	31323308	149591952	99	8651											
PDZD2	23037	broad.mit.edu	37	chr5	31983413	31983413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgggtgaccgaactgCgaaaaaggggaaacgaacca	15	3	15	8	3	0	1	0	1	0	0	0	6	0	3	2	4	5	1	2	4	5	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:31983413C>T	ENST00000438447.1	+	3	1017	c.629C>T	c.(628-630)gCg>gTg	p.A210V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A210V			O15018	PDZD2_HUMAN	PDZ domain containing 2	210					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.A210V(2)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GACCGAACTGCGAAAAAGGGG	0.542													97	149					0	0	0	0	T	31983413	C	T	31983413	3	4	46	1	0	0	0	0	1	0	0	0	11772	768	27	1	635	1	PDZD2	5	31983413	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	660105	31983413	148931847	100	8652											
DNAJC21	134218	broad.mit.edu	37	chr5	34936260	34936260	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttttttagggattttacacGgtgtatcgtaatgtttttga	8	20	10	3	2	0	1	0	1	0	0	1	2	0	2	0	2	1	4	0	2	4	9	rs147400420	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:34936260G>C	ENST00000382021.2	+	4	554	c.327G>C	c.(325-327)acG>acC	p.T109T	DNAJC21_ENST00000342382.4_Silent_p.T109T|DNAJC21_ENST00000303525.7_Silent_p.T109T	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	109					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	p.T109T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GATTTTACACGGTGTATCGTA	0.318													71	123					0	0	0	0	C	34936260	G	C	34936260	2	2	46	1	0	0	0	0	0	0	0	1	4676	1103	39	3		3	DNAJC21	5	34936260	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	2952847	34936260	145979000	101	8653											
EGFLAM	133584	broad.mit.edu	37	chr5	38451493	38451493	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttttgctgtggaggggaGacagccccatgagacccaac	9	7	13	12	0	0	2	0	1	0	2	0	5	0	3	4	3	3	1	4	3	1	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:38451493G>C	ENST00000322350.5	+	19	2966	c.2620G>C	c.(2620-2622)Gac>Cac	p.D874H	EGFLAM_ENST00000514476.1_Missense_Mutation_p.D17H|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D640H|EGFLAM_ENST00000506135.1_Missense_Mutation_p.D17H|EGFLAM_ENST00000397210.3_Missense_Mutation_p.D17H|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D882H|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D240H	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	882	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTGGAGGGGAGACAGCCCCAT	0.517													71	283					0	0	0	0	C	38451493	G	C	38451493	3	2	46	1	0	0	0	0	1	0	0	0	5002	942	33	2	2708	2	EGFLAM	5	38451493	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	3515233	38451493	142463767	102	8654											
NDUFAF2	91942	broad.mit.edu	37	chr5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacccctactgcgggtcccGctgctggcagcgctggaaac	6	8	12	15	3	0	0	0	0	0	0	1	1	1	1	3	3	6	4	3	3	3	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632													4	41					0	0	0	0	A	60241050	G	A	60241050	1	1	46	1	0	0	0	0	0	0	0	0	10345	1102	38	1		1	NDUFAF2	5	60241050	Translation_Start_Site	SNP	G	TCGA-BB-7870-01A-11D-2229-08	21789557	60241050	120674210	103	8655											
PIK3R1	5295	broad.mit.edu	37	chr5	67589623	67589634	+	In_Frame_Del	DEL	ATATGATAGATT	ATATGATAGATT	-																															tttcaagaaaaaagtcgagaAtatgatagattatatgaaga																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:67589623_67589634delATATGATAGATT	ENST00000521381.1	+	11	2002_2013	c.1386_1397delATATGATAGATT	c.(1384-1398)gaa>ga	p.EYDRL462del	PIK3R1_ENST00000523872.1_In_Frame_Del_p.EYDRL99del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EYDRL192del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.EYDRL162del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	462					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAGTCGAGAATATGATAGATTATATGAAGAA	0.283			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			38	74	---	---	---	---					-	67589634	ATATGATAGATT	-	67589623	7	5	46	1	0	1	0	1	0	0	0	0	11990	98	4	0	1554	0	PIK3R1	5	67589623	In_Frame_Del	DEL	ATATGATAGATT	TCGA-BB-7870-01A-11D-2229-08	7348573	67589623	113325637	104	8656											
RAD17	5884	broad.mit.edu	37	chr5	68692367	68692367	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcagtggtttctaataaaTaaaaaggtaaaaaaaaaaaa	23	9	5	4	0	2	0	1	0	1	0	2	0	2	0	1	2	0	2	1	2	12	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:68692367T>A	ENST00000509734.1	+	15	2277	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	533	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTCTAATAAATAAAAAGGTAA	0.338								Other conserved DNA damage response genes					8	34					0	0	0	0	A	68692367	T	A	68692367	3	1	46	1	0	0	0	0	1	0	0	0	13061	1403	49	5	1662	5	RAD17	5	68692367	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	1102744	68692367	112222893	105	8657											
ZNF366	167465	broad.mit.edu	37	chr5	71756185	71756185	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggtgaggtgtctcttcAgctgggccaaggtggggaag	6	9	19	7	1	2	1	1	1	1	0	3	2	2	2	1	6	1	1	1	6	2	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:71756185A>T	ENST00000318442.5	-	2	1629	c.1139T>A	c.(1138-1140)cTg>cAg	p.L380Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTGTCTCTTCAGCTGGGCCAA	0.632													37	91					0	0	0	0	T	71756185	A	T	71756185	3	4	46	1	0	0	0	0	1	0	0	0	17965	188	7	5	1111	5	ZNF366	5	71756185	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	3063818	71756185	109159075	106	8658											
AP3B1	8546	broad.mit.edu	37	chr5	77521428	77521428	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catttccttctgctctggatCaaggctaaaaaatacaaaaa	16	11	5	9	0	3	0	1	0	2	0	4	1	4	1	1	2	2	2	1	2	7	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:77521428C>G	ENST00000255194.6	-	6	716	c.541G>C	c.(541-543)Gat>Cat	p.D181H	AP3B1_ENST00000519295.1_Missense_Mutation_p.D132H	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	181					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGCTCTGGATCAAGGCTAAAA	0.284									Hermansky-Pudlak syndrome				4	38					0	0	0	0	G	77521428	C	G	77521428	3	3	46	1	0	0	0	0	1	0	0	0	745	826	29	2	2831	2	AP3B1	5	77521428	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	5765243	77521428	103393832	107	8659											
MEGF10	84466	broad.mit.edu	37	chr5	126753372	126753372	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgcctgcaagccgggctgGtcaggactctactgtaatga	8	10	13	10	1	2	1	1	1	1	0	2	2	2	2	2	3	4	3	2	3	3	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:126753372G>C	ENST00000274473.6	+	11	1440	c.1173G>C	c.(1171-1173)tgG>tgC	p.W391C	MEGF10_ENST00000503335.2_Missense_Mutation_p.W391C|MEGF10_ENST00000508365.1_Missense_Mutation_p.W391C|MEGF10_ENST00000418761.2_Missense_Mutation_p.W391C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	391	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCCGGGCTGGTCAGGACTCT	0.517													58	142					0	0	0	0	C	126753372	G	C	126753372	3	2	46	1	0	0	0	0	1	0	0	0	9529	1270	44	4	1207	4	MEGF10	5	126753372	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	49231944	126753372	54161888	108	8660											
CTNNA1	1495	broad.mit.edu	37	chr5	138160345	138160345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgatgtcgcagcctataagGccaacagggacctgatatac	12	8	10	11	1	0	2	0	2	0	0	1	3	0	3	3	2	3	1	3	2	5	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:138160345G>T	ENST00000302763.7	+	6	805	c.715G>T	c.(715-717)Gcc>Tcc	p.A239S	CTNNA1_ENST00000518825.1_Missense_Mutation_p.A239S|CTNNA1_ENST00000355078.5_Missense_Mutation_p.A136S	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	239					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCCTATAAGGCCAACAGGGA	0.567													60	91					1.93748e-29	2.53591e-29	1	0	T	138160345	G	T	138160345	3	4	46	1	0	0	0	0	1	0	0	0	4044	1203	42	4	733	4	CTNNA1	5	138160345	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	11406973	138160345	42754915	109	8661											
PCDHA7	56141	broad.mit.edu	37	chr5	140216084	140216085	+	Frame_Shift_Ins	INS	-	-	A																															cctgatcatcgccatctgcgINScggtgtccagtctgttggtg																								rs138671187		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140216084_140216085insA	ENST00000525929.1	+	1	2116_2117	c.2116_2117insA	c.(2116-2118)ggtfs	p.G706fs	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Frame_Shift_Ins_p.G706fs|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCATCTGCGCGGTGTCCAGT	0.619													117	195	---	---	---	---					A	140216085	-	A	140216084	7	5	46	1	0	1	1	0	0	0	0	0	11600	1087	38	0	2118	0	PCDHA7	5	140216084	Frame_Shift_Ins	INS	-	TCGA-BB-7870-01A-11D-2229-08	2055739	140216084	40699176	110	8662											
PCDHB8	56128	broad.mit.edu	37	chr5	140559006	140559006	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccctgttcgtccgcgagaAcaacagccccgccctgcaca	9	5	8	19	4	0	1	0	0	0	1	2	2	1	1	5	0	4	2	5	0	2	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140559006A>C	ENST00000239444.2	+	1	1636	c.1391A>C	c.(1390-1392)aAc>aCc	p.N464T		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		464	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCGCGAGAACAACAGCCCC	0.627													181	1250					0	0	0	0	C	140559006	A	C	140559006	3	2	46	1	0	0	0	0	1	0	0	0	11619	43	2	5	1393	5	PCDHB8	5	140559006	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	342922	140559006	40356254	111	8663											
PCDHGA7	56108	broad.mit.edu	37	chr5	140762628	140762628	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgccaaggacctggggctGgagccccgggagctggcgga	7	4	18	12	3	0	0	0	0	0	0	1	4	0	4	4	7	2	2	4	7	1	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140762628G>T	ENST00000518325.1	+	1	162	c.162G>T	c.(160-162)ctG>ctT	p.L54L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGGGCTGGAGCCCCGGG	0.652													124	119					4.22328e-53	6.06564e-53	1	0	T	140762628	G	T	140762628	2	4	46	1	0	0	0	0	0	0	0	1	11630	1335	47	4		4	PCDHGA7	5	140762628	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	203622	140762628	40152632	112	8664											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768675	140768675	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagtgacagatgctgttctAgaccgcgagcagaatccaga	12	9	11	9	2	1	5	0	1	1	4	2	6	2	5	2	0	2	3	2	0	3	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140768675A>G	ENST00000519479.1	+	1	1224	c.1224A>G	c.(1222-1224)ctA>ctG	p.L408L	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCTGTTCTAGACCGCGAGC	0.443													118	142					0	0	0	0	G	140768675	A	G	140768675	2	3	46	1	0	0	0	0	0	0	0	1	11636	407	15	5		5	PCDHGB4	5	140768675	Silent	SNP	A	TCGA-BB-7870-01A-11D-2229-08	6047	140768675	40146585	113	8665											
LARP1	23367	broad.mit.edu	37	chr5	154179188	154179188	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggagatcgttgatgAgaaagttcgtaggagggagg	10	9	20	2	2	0	3	0	2	0	2	2	7	0	5	0	6	0	3	0	6	2	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:154179188A>G	ENST00000336314.4	+	9	1208	c.1184A>G	c.(1183-1185)gAg>gGg	p.E395G		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	472							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATCGTTGATGAGAAAGTTCGT	0.468													51	135					0	0	0	0	G	154179188	A	G	154179188	3	3	46	1	0	0	0	0	1	0	0	0	8681	304	11	5	1218	5	LARP1	5	154179188	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	13410513	154179188	26736072	114	8666											
LARP1	23367	broad.mit.edu	37	chr5	154193517	154193517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtggcggcggtgagggcaGgaagcggtgcccctcccagt	6	5	19	11	3	0	1	0	1	0	0	1	2	1	2	3	7	2	1	3	7	1	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:154193517G>T	ENST00000336314.4	+	19	2945	c.2921G>T	c.(2920-2922)aGg>aTg	p.R974M		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	1051							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGTGAGGGCAGGAAGCGGTGC	0.642													94	124					1.31969e-37	1.80456e-37	1	0	T	154193517	G	T	154193517	3	4	46	1	0	0	0	0	1	0	0	0	8681	1000	35	4	2995	4	LARP1	5	154193517	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	14329	154193517	26721743	115	8667											
NSD1	64324	broad.mit.edu	37	chr5	176638368	176638368	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactctgcattatctggcGagttgtctgcttccctacct	5	15	9	12	1	3	1	0	1	3	0	4	2	4	1	2	1	3	3	2	1	2	4	rs138673583		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:176638368G>T	ENST00000439151.2	+	5	3013	c.2968G>T	c.(2968-2970)Gag>Tag	p.E990*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.E887*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E721*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E721*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	990					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATTATCTGGCGAGTTGTCTGC	0.527			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			167	46					3.75818e-72	5.62412e-72	1	0	T	176638368	G	T	176638368	4	4	46	1	0	0	0	0	0	1	0	0	10740	1059	37	3	2982	3	NSD1	5	176638368	Nonsense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	22444851	176638368	4276892	116	8668											
DUSP22	56940	broad.mit.edu	37	chr6	348835	348835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaagaagccaaaaacAttctgggtaaatataaggag	19	7	10	5	0	1	2	0	0	1	2	1	3	1	3	1	2	3	2	1	2	8	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:348835A>G	ENST00000604971.1	+	4	1306	c.193A>G	c.(193-195)Att>Gtt	p.I65V	DUSP22_ENST00000605315.1_Missense_Mutation_p.I65V|DUSP22_ENST00000603453.1_Missense_Mutation_p.I65V|DUSP22_ENST00000344450.5_Missense_Mutation_p.I168V|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000419235.2_Missense_Mutation_p.I168V			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	168	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGCCAAAAACATTCTGGGTAA	0.537													30	167					0	0	0	0	G	348835	A	G	348835	3	3	46	1	0	0	0	0	1	0	0	0	4857	217	8	5	528	5	DUSP22	6	348835	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08		348835	170766232	117	8669											
DSP	1832	broad.mit.edu	37	chr6	7584607	7584607	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcgcttattagaagcacAgatcgcaaccggggggatca	12	9	11	9	3	1	2	1	0	0	2	3	3	1	3	1	3	2	3	1	3	5	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:7584607A>G	ENST00000379802.3	+	24	7453	c.7112A>G	c.(7111-7113)cAg>cGg	p.Q2371R	DSP_ENST00000418664.2_Missense_Mutation_p.Q1772R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2371	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTAGAAGCACAGATCGCAACC	0.443													74	99					0	0	0	0	G	7584607	A	G	7584607	3	3	46	1	0	0	0	0	1	0	0	0	4817	188	7	5	7206	5	DSP	6	7584607	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	7235772	7584607	163530460	118	8670											
HDGFL1	154150	broad.mit.edu	37	chr6	22570200	22570200	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgacgaattggggaagccGgacgacgacaagcccactga	12	3	15	11	5	0	1	0	1	0	0	0	7	0	3	2	4	2	0	2	4	3	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:22570200G>T	ENST00000510882.2	+	1	406	c.396G>T	c.(394-396)ccG>ccT	p.P132P	HDGFL1_ENST00000230012.3_Silent_p.P132P			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	132										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					TGGGGAAGCCGGACGACGACA	0.731													4	6					0.00909568	0.00915988	1	0	T	22570200	G	T	22570200	2	4	46	1	0	0	0	0	0	0	0	1	7069	1103	39	3		3	HDGFL1	6	22570200	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	14985593	22570200	148544867	119	8671											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27115050	27115050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcgggttggagccggcgCgccagtgtacctggctgcgg	4	6	19	12	6	0	0	0	0	0	0	0	2	0	1	3	5	4	3	3	5	1	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:27115050C>T	ENST00000377459.1	+	1	190	c.143C>T	c.(142-144)gCg>gTg	p.A48V		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	48					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GGAGCCGGCGCGCCAGTGTAC	0.657													99	111					0	0	0	0	T	27115050	C	T	27115050	3	4	46	1	0	0	0	0	1	0	0	0	7184	768	27	1	145	1	HIST1H2AH	6	27115050	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	4544850	27115050	144000017	120	8672											
OR5V1	81696	broad.mit.edu	37	chr6	29323420	29323420	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttccacaagacaagatcaGcaaaggggggatgtcacaga	15	6	12	8	0	2	3	2	0	0	3	3	4	3	4	1	3	1	2	1	3	3	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:29323420G>A	ENST00000377154.1	-	4	852	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	OR5V1_ENST00000543825.1_Silent_p.L185L			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GACAAGATCAGCAAAGGGGGG	0.448													69	110					0	0	0	0	A	29323420	G	A	29323420	2	1	46	1	0	0	0	0	0	0	0	1	11255	962	34	4		4	OR5V1	6	29323420	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	2208370	29323420	141791647	121	8673											
DNAH8	1769	broad.mit.edu	37	chr6	38800181	38800181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagtttttcgtgaggaCgtgataaactttgcagaagc	11	12	13	5	2	0	3	0	2	0	1	1	5	0	5	0	2	3	2	0	2	4	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:38800181C>A	ENST00000359357.3	+	29	3875	c.3621C>A	c.(3619-3621)gaC>gaA	p.D1207E	DNAH8_ENST00000449981.2_Missense_Mutation_p.D1424E|DNAH8_ENST00000441566.1_Missense_Mutation_p.D1207E					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCGTGAGGACGTGATAAACT	0.333													31	69					1.99505e-19	2.46076e-19	1	0	A	38800181	C	A	38800181	3	1	46	1	0	0	0	0	1	0	0	0	4643	535	19	3	3727	3	DNAH8	6	38800181	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	9476761	38800181	132314886	122	8674											
DAAM2	23500	broad.mit.edu	37	chr6	39846300	39846300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggacaagctggcccgggagtCccaggagctgcgccaggctc	7	4	16	14	2	0	0	0	0	0	0	2	3	1	3	3	5	3	3	3	5	1	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:39846300C>T	ENST00000538976.1	+	13	1663	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	DAAM2_ENST00000274867.4_Missense_Mutation_p.S494F|DAAM2_ENST00000398904.2_Missense_Mutation_p.S494F	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	494					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCCCGGGAGTCCCAGGAGCTG	0.562													14	25					0	0	0	0	T	39846300	C	T	39846300	3	4	46	1	0	0	0	0	1	0	0	0	4249	855	30	2	1527	2	DAAM2	6	39846300	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	1046119	39846300	131268767	123	8675											
PPP2R5D	5528	broad.mit.edu	37	chr6	42978983	42978983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcactggaggcgcacaagCgggcggaagagttcctaact	11	5	15	10	3	0	1	0	0	0	1	1	3	1	3	1	5	2	3	1	5	3	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:42978983C>T	ENST00000485511.1	+	16	1947	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.R582W|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.R558W|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.R484W	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	590					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCGCACAAGCGGGCGGAAGA	0.607													55	208					0	0	0	0	T	42978983	C	T	42978983	3	4	46	1	0	0	0	0	1	0	0	0	12471	759	27	1	1830	1	PPP2R5D	6	42978983	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	3132683	42978983	128136084	124	8676											
TCTE1	202500	broad.mit.edu	37	chr6	44250254	44250254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcttcgaattatgatgcGtgccttgtcatcatccacct	9	13	8	11	2	2	1	2	1	0	0	4	2	3	1	3	1	2	1	3	1	3	3	rs112092930		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:44250254G>A	ENST00000371505.4	-	4	1011	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	TCTE1_ENST00000371503.3_Intron|TCTE1_ENST00000371504.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	297								p.R297C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTATGATGCGTGCCTTGTCA	0.562													76	131					0	0	0	0	A	44250254	G	A	44250254	3	1	46	1	0	0	0	0	1	0	0	0	15811	1145	40	1	624	1	TCTE1	6	44250254	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	1271271	44250254	126864813	125	8677											
KHDRBS2	202559	broad.mit.edu	37	chr6	62757889	62757889	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtccaagcaatttccccAcaaaattgaactaggaaaca	16	9	6	10	0	0	1	0	1	0	0	2	2	2	2	3	2	3	1	3	2	7	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:62757889A>T	ENST00000281156.4	-	3	508	c.230T>A	c.(229-231)gTg>gAg	p.V77E		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	77	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CAATTTCCCCACAAAATTGAA	0.363													46	104					0	0	0	0	T	62757889	A	T	62757889	3	4	46	1	0	0	0	0	1	0	0	0	8198	159	6	5	847	5	KHDRBS2	6	62757889	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	18507635	62757889	108357178	126	8678											
MDN1	23195	broad.mit.edu	37	chr6	90448144	90448144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttgagggcaccatatttCtgtaaaccggtttcttaagg	9	14	10	8	1	2	1	0	1	2	0	2	1	2	1	2	3	1	4	2	3	4	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:90448144C>T	ENST00000369393.3	-	33	4739	c.4624G>A	c.(4624-4626)Gaa>Aaa	p.E1542K	MDN1_ENST00000428876.1_Missense_Mutation_p.E1542K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1542					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CACCATATTTCTGTAAACCGG	0.383													7	170					0	0	0	0	T	90448144	C	T	90448144	3	4	46	1	0	0	0	0	1	0	0	0	9484	922	32	2	12446	2	MDN1	6	90448144	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	27690255	90448144	80666923	127	8679											
POPDC3	64208	broad.mit.edu	37	chr6	105606552	105606552	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcgggagatgtagcgatgCtgagcaaagagcagatataa	15	6	15	5	2	0	4	0	1	0	3	0	6	0	4	0	2	4	4	0	2	4	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:105606552C>T	ENST00000254765.3	-	4	947	c.669G>A	c.(667-669)caG>caA	p.Q223Q	BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	223						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TGTAGCGATGCTGAGCAAAGA	0.393													167	248					0	0	0	0	T	105606552	C	T	105606552	2	4	46	1	0	0	0	0	0	0	0	1	12328	796	28	4		4	POPDC3	6	105606552	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	15158408	105606552	65508515	128	8680											
SLC22A16	85413	broad.mit.edu	37	chr6	110778023	110778023	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactgcaccgtaacataaTctttctggcctgaagacaac	13	9	7	12	1	2	2	0	1	2	1	2	2	2	2	2	1	4	3	2	1	5	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:110778023T>C	ENST00000368919.3	-	2	317	c.251A>G	c.(250-252)gAt>gGt	p.D84G	SLC22A16_ENST00000439654.1_Missense_Mutation_p.D84G|SLC22A16_ENST00000456137.2_Missense_Mutation_p.D84G|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000330550.4_Intron	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	84					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CGTAACATAATCTTTCTGGCC	0.493													92	323					0	0	0	0	C	110778023	T	C	110778023	3	2	46	1	0	0	0	0	1	0	0	0	14535	1435	50	5	1510	5	SLC22A16	6	110778023	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	5171471	110778023	60337044	129	8681											
LAMA2	3908	broad.mit.edu	37	chr6	129513841	129513841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taagatacaagatatgagtgGctggtatctgactgaccttc	12	12	10	7	0	1	5	0	3	1	2	2	5	1	5	1	2	1	2	1	2	5	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:129513841G>T	ENST00000421865.2	+	12	1674	c.1625G>T	c.(1624-1626)gGc>gTc	p.G542V		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	542	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATATGAGTGGCTGGTATCTG	0.478													46	72					1.15183e-24	1.46721e-24	1	0	T	129513841	G	T	129513841	3	4	46	1	0	0	0	0	1	0	0	0	8659	1203	42	4	1671	4	LAMA2	6	129513841	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	18735818	129513841	41601226	130	8682											
SYNE1	23345	broad.mit.edu	37	chr6	152655151	152655151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatttctgttacctggccaaGttatcccattctgtagtaaa	11	15	6	9	0	2	0	0	0	2	0	3	0	3	0	3	1	1	4	3	1	7	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:152655151G>T	ENST00000367255.5	-	77	13387	c.12786C>A	c.(12784-12786)aaC>aaA	p.N4262K	SYNE1_ENST00000341594.5_Missense_Mutation_p.N4127K|SYNE1_ENST00000423061.1_Missense_Mutation_p.N4191K|SYNE1_ENST00000448038.1_Missense_Mutation_p.N4191K|SYNE1_ENST00000265368.4_Missense_Mutation_p.N4262K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4262					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTGGCCAAGTTATCCCATT	0.388										HNSCC(10;0.0054)			128	231					9.27386e-72	1.383e-71	1	0	T	152655151	G	T	152655151	3	4	46	1	0	0	0	0	1	0	0	0	15536	1020	36	4	13960	4	SYNE1	6	152655151	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	23141310	152655151	18459916	131	8683											
RGS17	26575	broad.mit.edu	37	chr6	153347667	153347667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccctctttcttcattcCtcacagtgaggctgtaatgt	6	17	6	12	0	4	1	2	1	2	0	6	1	6	1	3	1	0	2	3	1	1	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:153347667C>T	ENST00000367225.2	-	2	155	c.131G>A	c.(130-132)aGg>aAg	p.R44K	RGS17_ENST00000206262.1_Missense_Mutation_p.R44K			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	44					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TTCTTCATTCCTCACAGTGAG	0.403													62	117					0	0	0	0	T	153347667	C	T	153347667	3	4	46	1	0	0	0	0	1	0	0	0	13382	681	24	4	513	4	RGS17	6	153347667	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	692516	153347667	17767400	132	8684											
SLC22A1	6580	broad.mit.edu	37	chr6	160557646	160557646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctgttccgcacgccgcGcctgaggaagcgcaccttca	8	6	11	16	5	1	2	1	1	0	1	2	3	2	3	5	1	1	3	5	1	1	2	rs34205214	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:160557646G>A	ENST00000366963.4	+	6	1172	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	SLC22A1_ENST00000457470.2_Missense_Mutation_p.R342H|SLC22A1_ENST00000324965.4_Missense_Mutation_p.R342H	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	342			R -> H (no changes in the MPP uptake; when associated with V-408; dbSNP:rs34205214).			basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	p.R342H(1)	SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CGCACGCCGCGCCTGAGGAAG	0.587													118	169					0	0	0	0	A	160557646	G	A	160557646	3	1	46	1	0	0	0	0	1	0	0	0	14528	1087	38	1	1047	1	SLC22A1	6	160557646	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	7209979	160557646	10557421	133	8685											
C6orf118	168090	broad.mit.edu	37	chr6	165715262	165715262	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctggtagcacagcacCttcaagtcgggcagccggag	8	6	13	14	2	1	0	1	0	0	0	3	1	2	1	4	3	3	4	4	3	2	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:165715262C>A	ENST00000543069.1	-	2	818	c.237G>T	c.(235-237)aaG>aaT	p.K79N	C6orf118_ENST00000230301.8_Missense_Mutation_p.K183N			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	183										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGCACAGCACCTTCAAGTCGG	0.642													75	125					2.37984e-18	2.87732e-18	1	0	A	165715262	C	A	165715262	3	1	46	1	0	0	0	0	1	0	0	0	2344	680	24	4	892	4	C6orf118	6	165715262	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	5157616	165715262	5399805	134	8686											
PDE10A	10846	broad.mit.edu	37	chr6	165827151	165827151	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaggatgttccgcgtggtGtagcctgtgtacaagtctac	8	11	12	10	2	1	0	0	0	1	0	2	1	2	1	2	2	3	3	2	2	4	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:165827151G>T	ENST00000366882.1	-	14	1240	c.1086C>A	c.(1084-1086)taC>taA	p.Y362*	PDE10A_ENST00000354448.4_Nonsense_Mutation_p.Y362*|PDE10A_ENST00000539869.2_Nonsense_Mutation_p.Y372*			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	362	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TCCGCGTGGTGTAGCCTGTGT	0.468													42	74					9.62906e-15	1.12295e-14	1	0	T	165827151	G	T	165827151	4	4	46	1	0	0	0	0	0	1	0	0	11701	1372	48	4	1293	4	PDE10A	6	165827151	Nonsense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	111889	165827151	5287916	135	8687											
ABCB5	340273	broad.mit.edu	37	chr7	20682807	20682807	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctaatactctttcttcagGttgaccctgtattatgttgg	7	19	7	8	0	4	1	1	1	3	0	4	1	4	1	1	2	1	3	1	2	4	9			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:20682807G>A	ENST00000404938.2	+	6	967	c.314_splice	c.e6-1	p.L105_splice		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	289	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTTTCTTCAGGTTGACCCTGT	0.363													10	16					0	0	0	0	A	20682807	G	A	20682807	5	1	46	1	0	0	0	0	0	0	1	0	44	1275	44	4	333	4	ABCB5	7	20682807	Splice_Site	SNP	G	TCGA-BB-7870-01A-11D-2229-08		20682807	138455856	136	8688											
DNAH11	8701	broad.mit.edu	37	chr7	21631019	21631019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacagagttgagcgcacaCagaaaaacgtgaaggtgatc	16	5	12	8	2	0	5	0	3	0	2	1	5	0	5	0	1	3	3	0	1	3	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:21631019C>A	ENST00000328843.6	+	14	2522	c.2491C>A	c.(2491-2493)Cag>Aag	p.Q831K	DNAH11_ENST00000409508.3_Missense_Mutation_p.Q831K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	831	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAGCGCACACAGAAAAACGT	0.602									Kartagener syndrome				57	105					6.3091e-27	8.15799e-27	1	0	A	21631019	C	A	21631019	3	1	46	1	0	0	0	0	1	0	0	0	4636	479	17	4	2545	4	DNAH11	7	21631019	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	948212	21631019	137507644	137	8689											
AMPH	273	broad.mit.edu	37	chr7	38466556	38466556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaacagattccttacctGtgtgaatccattaaatgaac	16	11	6	8	0	0	4	0	2	0	2	2	4	2	4	3	0	3	0	3	0	7	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:38466556G>T	ENST00000356264.2	-	15	1428	c.1213C>A	c.(1213-1215)Cag>Aag	p.Q405K	AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Missense_Mutation_p.Q405K|AMPH_ENST00000325590.5_Missense_Mutation_p.Q405K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	405					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTCCTTACCTGTGTGAATCCA	0.348													36	45					6.4771e-29	8.45183e-29	1	0	T	38466556	G	T	38466556	3	4	46	1	0	0	0	0	1	0	0	0	588	1386	48	4	902	4	AMPH	7	38466556	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	16835537	38466556	120672107	138	8690											
ABCA13	154664	broad.mit.edu	37	chr7	48682991	48682991	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaggaattcagttcaaggTagtgctaatatcttgtatta	12	15	8	6	0	3	0	2	0	1	0	4	1	4	1	1	2	1	4	1	2	7	8			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:48682991T>G	ENST00000435803.1	+	60	14967		c.e60+2		ABCA13_ENST00000544596.1_Splice_Site	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						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						CAGTTCAAGGTAGTGCTAATA	0.303													76	132					0	0	0	0	G	48682991	T	G	48682991	5	3	46	1	0	0	0	0	0	0	1	0	31	1652	57	5	15012	5	ABCA13	7	48682991	Splice_Site	SNP	T	TCGA-BB-7870-01A-11D-2229-08	10216435	48682991	110455672	139	8691											
ZNF479	90827	broad.mit.edu	37	chr7	57188501	57188501	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtaggacttctccctagtAtgaattacctgatgttgatt	9	17	8	7	0	1	3	0	3	1	0	2	4	1	4	2	1	1	3	2	1	5	8			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:57188501A>G	ENST00000331162.4	-	5	891	c.621T>C	c.(619-621)caT>caC	p.H207H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCCTAGTATGAATTACCT	0.328													15	43					0	0	0	0	G	57188501	A	G	57188501	2	3	46	1	0	0	0	0	0	0	0	1	18028	446	16	5		5	ZNF479	7	57188501	Silent	SNP	A	TCGA-BB-7870-01A-11D-2229-08	8505510	57188501	101950162	140	8692											
CLIP2	7461	broad.mit.edu	37	chr7	73791082	73791082	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggaggtcgagagtttgcGggagaagctcctggtggctg	8	8	18	7	2	0	2	0	0	0	2	2	5	1	3	1	5	2	3	1	5	1	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:73791082G>C	ENST00000223398.6	+	10	2678	c.2351G>C	c.(2350-2352)cGg>cCg	p.R784P	CLIP2_ENST00000395060.1_Missense_Mutation_p.R784P|CLIP2_ENST00000361545.5_Missense_Mutation_p.R749P	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	784						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAGAGTTTGCGGGAGAAGCTC	0.647													10	39					0	0	0	0	C	73791082	G	C	73791082	3	2	46	1	0	0	0	0	1	0	0	0	3563	1116	39	3	2385	3	CLIP2	7	73791082	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	16602581	73791082	85347581	141	8693											
SEMA3D	223117	broad.mit.edu	37	chr7	84669998	84669998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgaacatacctggttgtaGtaaagactccatatactaca	14	12	7	8	0	0	2	0	1	0	1	1	2	1	2	2	1	4	4	2	1	8	8			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:84669998G>T	ENST00000284136.6	-	9	1080	c.1037C>A	c.(1036-1038)aCt>aAt	p.T346N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	346	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCTGGTTGTAGTAAAGACTCC	0.308													18	35					1.02788e-11	1.13973e-11	1	0	T	84669998	G	T	84669998	3	4	46	1	0	0	0	0	1	0	0	0	14114	1029	36	4	1332	4	SEMA3D	7	84669998	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	10878916	84669998	74468665	142	8694											
ZNF804B	219578	broad.mit.edu	37	chr7	88964895	88964895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaaatgtattacttgaatAaaagcaagagaaatcaagag	22	8	8	3	0	1	4	1	1	0	3	1	5	1	4	0	0	2	2	0	0	10	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:88964895A>G	ENST00000333190.4	+	4	3208	c.2599A>G	c.(2599-2601)Aaa>Gaa	p.K867E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	867						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTACTTGAATAAAAGCAAGAG	0.428										HNSCC(36;0.09)			19	130					0	0	0	0	G	88964895	A	G	88964895	3	3	46	1	0	0	0	0	1	0	0	0	18264	363	13	5	2613	5	ZNF804B	7	88964895	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	4294897	88964895	70173768	143	8695											
PPP1R9A	55607	broad.mit.edu	37	chr7	94897988	94897988	+	Missense_Mutation	SNP	C	C	G																															actgtatgatagtgttagttCcacagatggggaggacagtc																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:94897988C>G	ENST00000289495.5	+	11	2942	c.2726C>G	c.(2725-2727)tCc>tGc	p.S909C	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.S909C|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S909C|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S909C|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.S909C|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S931C	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	909	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGTGTTAGTTCCACAGATGGG	0.473										HNSCC(28;0.073)			21	98					0	0	0	0	G	94897988	C	G	94897988	3	3	46	1	0	0	0	0	1	0	0	0	12454	855	30	2	2838	2	PPP1R9A	7	94897988	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	5933093	94897988	64240675	144	8696	78	2									
PPP1R9A	55607	broad.mit.edu	37	chr7	94897989	94897989	+	Silent	SNP	C	C	A																															ctgtatgatagtgttagttcCacagatggggaggacagtct																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:94897989C>A	ENST00000289495.5	+	11	2943	c.2727C>A	c.(2725-2727)tcC>tcA	p.S909S	PPP1R9A_ENST00000340694.4_Silent_p.S909S|PPP1R9A_ENST00000424654.1_Silent_p.S909S|PPP1R9A_ENST00000456331.2_Silent_p.S909S|PPP1R9A_ENST00000433881.1_Silent_p.S909S|PPP1R9A_ENST00000433360.1_Silent_p.S931S	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	909	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGTTAGTTCCACAGATGGGG	0.468										HNSCC(28;0.073)			19	98					7.45023e-12	8.3039e-12	1	0	A	94897989	C	A	94897989	2	1	46	1	0	0	0	0	0	0	0	1	12454	581	21	4		4	PPP1R9A	7	94897989	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	1	94897989	64240674	145	8697	78	2									
PON1	5444	broad.mit.edu	37	chr7	94953716	94953716	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccacaacccaacttactgGtaagaagactggtggttcct	12	9	8	12	0	0	2	0	0	0	2	1	2	1	2	3	3	3	2	3	3	5	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:94953716G>T	ENST00000222381.3	-	1	303	c.72C>A	c.(70-72)taC>taA	p.Y24*	PON1_ENST00000542556.1_Intron	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	24					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CAACTTACTGGTAAGAAGACT	0.577													26	51					2.12542e-12	2.38136e-12	1	0	T	94953716	G	T	94953716	4	4	46	1	0	0	0	0	0	1	0	0	12320	1256	44	4	1031	4	PON1	7	94953716	Nonsense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	55727	94953716	64184947	146	8698											
ANKRD7	56311	broad.mit.edu	37	chr7	117876980	117876980	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatttccatggttttactgCgtaagtgatactgcatgtct	8	18	8	7	1	1	1	0	1	1	0	2	1	2	1	1	1	4	3	1	1	4	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:117876980C>A	ENST00000357099.4	+	6	945	c.772_splice	c.e6+1	p.H258_splice	ANKRD7_ENST00000417525.1_Splice_Site_p.H185_splice|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Splice_Site_p.H185_splice|ANKRD7_ENST00000265224.4_Splice_Site_p.H238_splice			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	238					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GGTTTTACTGCGTAAGTGATA	0.388													104	211					1.32035e-51	1.89e-51	1	0	A	117876980	C	A	117876980	5	1	46	1	0	0	0	0	0	0	1	0	685	782	27	3	730	3	ANKRD7	7	117876980	Splice_Site	SNP	C	TCGA-BB-7870-01A-11D-2229-08	22923264	117876980	41261683	147	8699											
FLNC	2318	broad.mit.edu	37	chr7	128490528	128490528	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttcgcggtgcagaaagggGagctcacaggtactgccctg	8	7	14	12	2	1	1	1	0	0	1	2	2	1	2	2	4	4	3	2	4	2	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:128490528G>T	ENST00000325888.8	+	32	5650	c.5389G>T	c.(5389-5391)Gag>Tag	p.E1797*	FLNC_ENST00000346177.6_Nonsense_Mutation_p.E1764*|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1797					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						GCAGAAAGGGGAGCTCACAGG	0.602													112	173					7.80449e-65	1.15183e-64	1	0	T	128490528	G	T	128490528	4	4	46	1	0	0	0	0	0	1	0	0	5980	1175	41	2	5515	2	FLNC	7	128490528	Nonsense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	10613548	128490528	30648135	148	8700											
CNOT4	4850	broad.mit.edu	37	chr7	135106967	135106967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtttttttgtacgacacGtacactagccaaatgtttgc	10	14	9	8	2	0	0	0	0	0	0	0	2	0	0	1	1	4	4	1	1	4	7			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:135106967G>T	ENST00000428680.2	-	3	589	c.310C>A	c.(310-312)Cgt>Agt	p.R104S	CNOT4_ENST00000361528.4_Missense_Mutation_p.R104S|CNOT4_ENST00000541284.1_Missense_Mutation_p.R104S|CNOT4_ENST00000315544.5_Missense_Mutation_p.R104S|CNOT4_ENST00000451834.1_Missense_Mutation_p.R104S|CNOT4_ENST00000414802.1_Missense_Mutation_p.R104S|CNOT4_ENST00000356162.4_Missense_Mutation_p.R104S|CNOT4_ENST00000423368.2_Missense_Mutation_p.R104S	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	104					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGTACGACACGTACACTAGCC	0.378													67	135					2.26907e-38	3.1127e-38	1	0	T	135106967	G	T	135106967	3	4	46	1	0	0	0	0	1	0	0	0	3651	1145	40	3	1750	3	CNOT4	7	135106967	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	6616439	135106967	24031696	149	8701											
SSPO	23145	broad.mit.edu	37	chr7	149515820	149515820	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctgcatggcgcagccgCacccgcctctgcctggctaa	5	6	11	19	4	1	0	0	0	1	0	1	0	1	0	5	2	3	4	5	2	1	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:149515820C>A	ENST00000378016.2	+	0	11721							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCGCAGCCGCACCCGCCTCT	0.677													6	28					1.36491e-13	1.57461e-13	1	0	A	149515820	C	A	149515820	1	1	46	0	1	0	0	0	0	0	0	0	15279	697	25	4		4	SSPO	7	149515820	RNA	SNP	C	TCGA-BB-7870-01A-11D-2229-08	14408853	149515820	9622843	150	8702											
CHPF2	54480	broad.mit.edu	37	chr7	150934743	150934743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagcagcgactgctcaacgGctatcggcgcttcgacccag	9	6	12	14	5	1	0	1	0	0	0	3	3	1	0	1	2	4	4	1	2	3	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:150934743G>T	ENST00000035307.2	+	4	2808	c.1295G>T	c.(1294-1296)gGc>gTc	p.G432V	CHPF2_ENST00000495645.1_Missense_Mutation_p.G424V	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	432						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTGCTCAACGGCTATCGGCGC	0.662													113	144					1.34498e-63	1.97819e-63	1	0	T	150934743	G	T	150934743	3	4	46	1	0	0	0	0	1	0	0	0	3398	1203	42	4	1309	4	CHPF2	7	150934743	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	1418923	150934743	8203920	151	8703											
SGK223	157285	broad.mit.edu	37	chr8	8234718	8234718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggctgtgtagcctcccgggGgtgggccgggggctggggct	2	7	22	10	2	0	0	0	0	0	0	1	0	1	0	3	8	1	4	3	8	1	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:8234718G>T	ENST00000520004.1	-	3	1465	c.1201C>A	c.(1201-1203)Ccc>Acc	p.P401T	SGK223_ENST00000330777.4_Missense_Mutation_p.P401T			Q86YV5	SG223_HUMAN		401							ATP binding|non-membrane spanning protein tyrosine kinase activity										GCCTCCCGGGGGTGGGCCGGG	0.642													71	62					1.37693e-34	1.87088e-34	1	0	T	8234718	G	T	8234718	3	4	46	1	0	0	0	0	1	0	0	0	14297	1232	43	4	3023	4	SGK223	8	8234718	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08		8234718	138129304	152	8704											
SGCZ	137868	broad.mit.edu	37	chr8	13947988	13947988	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttgctactggactgacaAgtggaacctactcctgctgg	9	11	11	10	0	0	1	0	1	0	0	1	3	1	3	2	3	5	3	2	3	4	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:13947988A>T	ENST00000382080.1	-	8	1618	c.903T>A	c.(901-903)acT>acA	p.T301T	SGCZ_ENST00000421524.2_Silent_p.T254T	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	288					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGGACTGACAAGTGGAACCTA	0.498													76	188					0	0	0	0	T	13947988	A	T	13947988	2	4	46	1	0	0	0	0	0	0	0	1	14291	59	3	5		5	SGCZ	8	13947988	Silent	SNP	A	TCGA-BB-7870-01A-11D-2229-08	5713270	13947988	132416034	153	8705											
NRG1	3084	broad.mit.edu	37	chr8	32621347	32621347	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccccaaatcgcccccttcGgaaatgtctccacccgtgtc	7	9	6	19	3	1	0	0	0	1	0	6	1	2	1	6	1	0	0	6	1	2	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:32621347G>A	ENST00000338921.4	+	13	1891	c.1374G>A	c.(1372-1374)tcG>tcA	p.S458S	NRG1_ENST00000519301.1_Silent_p.S400S|NRG1_ENST00000539990.1_Silent_p.S293S|NRG1_ENST00000287845.5_Silent_p.S421S|NRG1_ENST00000356819.4_Silent_p.S455S|NRG1_ENST00000405005.2_Silent_p.S450S|NRG1_ENST00000287842.3_Silent_p.S447S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Silent_p.S450S|NRG1_ENST00000521670.1_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	450					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.S455S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CGCCCCCTTCGGAAATGTCTC	0.562													49	363					0	0	0	0	A	32621347	G	A	32621347	2	1	46	1	0	0	0	0	0	0	0	1	10718	1103	39	1		1	NRG1	8	32621347	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	18673359	32621347	113742675	154	8706											
KCNU1	157855	broad.mit.edu	37	chr8	36693861	36693861	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaccagaatcatcatacAgatactgcaatcccataaca	17	8	3	13	0	2	2	2	0	0	2	3	2	3	2	3	0	5	1	3	0	6	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:36693861A>G	ENST00000399881.3	+	13	1380	c.1343A>G	c.(1342-1344)cAg>cGg	p.Q448R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	448	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATCATCATACAGATACTGCAA	0.358													65	70					0	0	0	0	G	36693861	A	G	36693861	3	3	46	1	0	0	0	0	1	0	0	0	8146	188	7	5	1393	5	KCNU1	8	36693861	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	4072514	36693861	109670161	155	8707											
TRPA1	8989	broad.mit.edu	37	chr8	72948639	72948639	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaaaaatgatgcccgtCgtgtagataatccattcaag	15	9	8	9	2	1	2	1	1	0	1	3	2	2	2	2	0	2	2	2	0	5	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:72948639C>A	ENST00000262209.4	-	21	2646	c.2439G>T	c.(2437-2439)acG>acT	p.T813T	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	813						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGATGCCCGTCGTGTAGATAA	0.358													42	102					1.57019e-19	1.94795e-19	1	0	A	72948639	C	A	72948639	2	1	46	1	0	0	0	0	0	0	0	1	16672	871	31	3		3	TRPA1	8	72948639	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	36254778	72948639	73415383	156	8708											
VPS13B	157680	broad.mit.edu	37	chr8	100568693	100568693	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaggagagccttgaacttAggaattcttcgagatcctgg	11	11	11	8	1	1	3	0	1	1	2	3	6	2	4	2	3	3	0	2	3	4	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:100568693A>C	ENST00000358544.2	+	31	4947	c.4836A>C	c.(4834-4836)ttA>ttC	p.L1612F	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L1587F	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1612					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTTGAACTTAGGAATTCTTC	0.348													8	84					0	0	0	0	C	100568693	A	C	100568693	3	2	46	1	0	0	0	0	1	0	0	0	17286	417	15	5	5148	5	VPS13B	8	100568693	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	27620054	100568693	45795329	157	8709											
KCNV1	27012	broad.mit.edu	37	chr8	110980643	110980643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaatgtccccatatcccaCagtagtcatagaggtggtgg	10	11	10	10	0	2	1	1	0	1	1	4	1	4	1	3	3	0	1	3	3	4	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:110980643C>A	ENST00000524391.1	-	4	2209	c.1177G>T	c.(1177-1179)Gtg>Ttg	p.V393L	KCNV1_ENST00000297404.1_Missense_Mutation_p.V393L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	393						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCATATCCCACAGTAGTCATA	0.463													99	166					1.14069e-49	1.62198e-49	1	0	A	110980643	C	A	110980643	3	1	46	1	0	0	0	0	1	0	0	0	8147	478	17	4	329	4	KCNV1	8	110980643	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	10411950	110980643	35383379	158	8710											
CSMD3	114788	broad.mit.edu	37	chr8	113966914	113966914	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaagaagtacactcacaGatagaaaacttgttgctgtt	18	10	7	6	0	1	3	1	0	0	3	1	3	1	3	0	0	3	4	0	0	8	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:113966914G>T	ENST00000297405.5	-	8	1663	c.1420_splice	c.e8+1	p.I473_splice	CSMD3_ENST00000455883.2_Splice_Site_p.I369_splice|CSMD3_ENST00000343508.3_Splice_Site_p.I433_splice|CSMD3_ENST00000352409.3_Splice_Site_p.I473_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	473						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACACTCACAGATAGAAAACT	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	35					7.92952e-12	8.81516e-12	1	0	T	113966914	G	T	113966914	5	4	46	1	0	0	0	0	0	0	1	0	3978	956	33	2	9960	2	CSMD3	8	113966914	Splice_Site	SNP	G	TCGA-BB-7870-01A-11D-2229-08	2986271	113966914	32397108	159	8711											
ZNF572	137209	broad.mit.edu	37	chr8	125989245	125989245	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaggtgaaaaaccatatgaAtgttctgtctgcggaaaagg	15	9	11	6	1	2	2	0	2	2	0	2	3	2	3	1	3	2	1	1	3	6	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:125989245A>G	ENST00000319286.5	+	3	889	c.735A>G	c.(733-735)gaA>gaG	p.E245E		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AACCATATGAATGTTCTGTCT	0.448										HNSCC(60;0.17)			103	120					0	0	0	0	G	125989245	A	G	125989245	2	3	46	1	0	0	0	0	0	0	0	1	18099	98	4	5		5	ZNF572	8	125989245	Silent	SNP	A	TCGA-BB-7870-01A-11D-2229-08	12022331	125989245	20374777	160	8712											
SCRIB	23513	broad.mit.edu	37	chr8	144892747	144892747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcaccttgagctcgctggGgtgaggtgtggcccggcgct	4	9	16	12	3	1	2	1	2	0	0	2	2	1	2	2	5	1	3	2	5	0	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:144892747G>A	ENST00000356994.2	-	13	1438	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S	SCRIB_ENST00000320476.3_Missense_Mutation_p.P478S|SCRIB_ENST00000377533.3_Missense_Mutation_p.P397S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	478	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCTCGCTGGGGTGAGGTGTG	0.667													245	465					0	0	0	0	A	144892747	G	A	144892747	3	1	46	1	0	0	0	0	1	0	0	0	14024	1232	43	4	3635	4	SCRIB	8	144892747	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	18903502	144892747	1471275	161	8713											
MPDZ	8777	broad.mit.edu	37	chr9	13188969	13188969	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaacgaattataatcacAgtgcttgctggatcaattgg	15	11	9	6	1	2	1	2	0	0	1	2	3	2	2	0	2	3	2	0	2	6	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:13188969A>C	ENST00000319217.7	-	17	2425	c.2178T>G	c.(2176-2178)acT>acG	p.T726T	MPDZ_ENST00000381015.4_Silent_p.T726T|MPDZ_ENST00000546205.1_Silent_p.T726T|MPDZ_ENST00000447879.1_Silent_p.T726T|MPDZ_ENST00000541718.1_Silent_p.T726T|MPDZ_ENST00000536827.1_Silent_p.T726T|MPDZ_ENST00000381022.2_Silent_p.T726T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	726	PDZ 5.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTATAATCACAGTGCTTGCTG	0.428													32	51					0	0	0	0	C	13188969	A	C	13188969	2	2	46	1	0	0	0	0	0	0	0	1	9792	175	7	5		5	MPDZ	9	13188969	Silent	SNP	A	TCGA-BB-7870-01A-11D-2229-08		13188969	128024462	162	8714											
COL15A1	1306	broad.mit.edu	37	chr9	101777723	101777723	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagcagtgaagacagtttaAcaacagctgcagctgcaacc	15	6	9	11	0	0	2	0	1	0	1	0	2	0	2	1	0	8	6	1	0	5	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:101777723A>G	ENST00000375001.3	+	10	1801	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	460	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGACAGTTTAACAACAGCTGC	0.577													35	90					0	0	0	0	G	101777723	A	G	101777723	3	3	46	1	0	0	0	0	1	0	0	0	3702	43	2	5	1416	5	COL15A1	9	101777723	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	88588754	101777723	39435708	163	8715											
ZNF462	58499	broad.mit.edu	37	chr9	109691728	109691728	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaatcgagtggctcccAttccgctgcatcaaatgctt	10	10	9	12	2	1	0	1	0	0	0	4	2	3	1	2	2	2	4	2	2	2	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:109691728A>T	ENST00000277225.5	+	3	5824	c.5535A>T	c.(5533-5535)ccA>ccT	p.P1845P	ZNF462_ENST00000441147.2_Silent_p.P690P|ZNF462_ENST00000457913.1_Silent_p.P1845P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1845					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGTGGCTCCCATTCCGCTGCA	0.522													71	75					0	0	0	0	T	109691728	A	T	109691728	2	4	46	1	0	0	0	0	0	0	0	1	18021	204	8	5		5	ZNF462	9	109691728	Silent	SNP	A	TCGA-BB-7870-01A-11D-2229-08	7914005	109691728	31521703	164	8716											
BSPRY	54836	broad.mit.edu	37	chr9	116122898	116122898	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcatggcgaagaggagCgggcccaccagagcatcctg	10	4	16	11	2	0	2	0	0	0	2	1	4	1	3	3	4	3	2	3	4	1	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:116122898C>A	ENST00000374183.4	+	3	451	c.412C>A	c.(412-414)Cgg>Agg	p.R138R	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	138					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CGAAGAGGAGCGGGCCCACCA	0.612													3	33					0.00024832	0.000254261	1	0	A	116122898	C	A	116122898	2	1	46	1	0	0	0	0	0	0	0	1	1540	759	27	3		3	BSPRY	9	116122898	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	6431170	116122898	25090533	165	8717											
MAPKAP1	79109	broad.mit.edu	37	chr9	128434625	128434625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtcttctaataccaaagtCccaacttgaggtaatatcga	13	11	7	10	2	2	1	0	1	2	0	4	2	3	1	2	1	2	1	2	1	6	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:128434625C>A	ENST00000265960.3	-	2	561	c.229G>T	c.(229-231)Gac>Tac	p.D77Y	MAPKAP1_ENST00000394060.3_Missense_Mutation_p.D77Y|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.D77Y|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.D77Y|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.D77Y|MAPKAP1_ENST00000373503.3_Intron|MAPKAP1_ENST00000394063.1_Intron	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	77	Interaction with MAP3K2.			WDFGIRRRSNT -> ADPARSVEAAS (in Ref. 9; AAA36551).	nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						ATACCAAAGTCCCAACTTGAG	0.413													46	53					2.64894e-19	3.25789e-19	1	0	A	128434625	C	A	128434625	3	1	46	1	0	0	0	0	1	0	0	0	9357	855	30	2	1401	2	MAPKAP1	9	128434625	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	12311727	128434625	12778806	166	8718											
TRUB2	26995	broad.mit.edu	37	chr9	131073208	131073208	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtagaggcatcggatgcCagttatcagcatcggggact	12	8	13	8	2	1	1	1	0	0	1	3	3	1	3	1	4	2	4	1	4	3	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:131073208C>A	ENST00000372890.4	-	7	961	c.628G>T	c.(628-630)Ggc>Tgc	p.G210C	TRUB2_ENST00000546104.1_Missense_Mutation_p.G154C|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	210					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CATCGGATGCCAGTTATCAGC	0.562													25	290					3.6726e-16	4.37848e-16	1	0	A	131073208	C	A	131073208	3	1	46	1	0	0	0	0	1	0	0	0	16698	594	21	4	375	4	TRUB2	9	131073208	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	2638583	131073208	10140223	167	8719											
EXOSC2	23404	broad.mit.edu	37	chr9	133573566	133573566	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taggttcaacagaagaggtgGaaggtggagaccaactccag	14	6	14	7	0	1	3	1	0	0	3	2	5	2	4	2	5	2	1	2	5	5	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:133573566G>A	ENST00000372358.5	+	4	359	c.288G>A	c.(286-288)tgG>tgA	p.W96*	EXOSC2_ENST00000372352.3_Nonsense_Mutation_p.W96*|EXOSC2_ENST00000372351.3_Intron|EXOSC2_ENST00000546165.1_Nonsense_Mutation_p.W96*			Q13868	EXOS2_HUMAN	exosome component 2	96	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		AGAAGAGGTGGAAGGTGGAGA	0.517													43	109					0	0	0	0	A	133573566	G	A	133573566	4	1	46	1	0	0	0	0	0	1	0	0	5352	1183	41	2	302	2	EXOSC2	9	133573566	Nonsense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	2500358	133573566	7639865	168	8720											
ADARB2	105	broad.mit.edu	37	chr10	1405856	1405856	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accggggcatgcaccgggccCgtctgcgacactgtccggta	6	6	14	15	5	1	0	0	0	1	0	2	1	2	0	4	4	2	3	4	4	1	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:1405856C>A	ENST00000381312.1	-	3	769	c.444G>T	c.(442-444)acG>acT	p.T148T		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	148	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.T148T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCACCGGGCCCGTCTGCGACA	0.677													22	26					7.41877e-09	7.91829e-09	1	0	A	1405856	C	A	1405856	2	1	46	1	0	0	0	0	0	0	0	1	283	639	23	3		3	ADARB2	10	1405856	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08		1405856	134128891	169	8721											
ITIH2	3698	broad.mit.edu	37	chr10	7759724	7759724	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcacaggatctatctgcaAcctggacggctggccaaaca	12	6	11	12	1	2	0	0	0	2	0	2	3	2	2	2	4	4	3	2	4	3	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:7759724A>T	ENST00000358415.4	+	6	769	c.603A>T	c.(601-603)caA>caT	p.Q201H	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.Q190H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	201					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTATCTGCAACCTGGACGGC	0.502													158	132					0	0	0	0	T	7759724	A	T	7759724	3	4	46	1	0	0	0	0	1	0	0	0	7957	40	2	5	625	5	ITIH2	10	7759724	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	6353868	7759724	127775023	170	8722											
GPR158	57512	broad.mit.edu	37	chr10	25464376	25464376	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccatggcttaccccttactCctctgcctcctgcttgctca	4	13	6	18	0	2	0	1	0	1	0	4	0	4	0	6	1	5	3	6	1	2	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:25464376C>T	ENST00000376351.3	+	1	386	c.27C>T	c.(25-27)ctC>ctT	p.L9L	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	9						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACCCCTTACTCCTCTGCCTCC	0.602													44	118					0	0	0	0	T	25464376	C	T	25464376	2	4	46	1	0	0	0	0	0	0	0	1	6712	842	30	2		2	GPR158	10	25464376	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	17704652	25464376	110070371	171	8723											
CXCL12	6387	broad.mit.edu	37	chr10	44880407	44880407	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaccgtcgctgaggcagAgcgcggtcagcacgaggacc	9	5	14	13	5	1	2	1	1	0	1	2	4	1	3	2	3	3	3	2	3	1	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:44880407A>G	ENST00000374429.2	-	1	133	c.47T>C	c.(46-48)cTc>cCc	p.L16P	CXCL12_ENST00000395795.4_Missense_Mutation_p.L16P|CXCL12_ENST00000395793.3_Missense_Mutation_p.L16P|CXCL12_ENST00000496375.1_Intron|CXCL12_ENST00000395794.2_Missense_Mutation_p.L16P|CXCL12_ENST00000374426.2_Missense_Mutation_p.L16P|CXCL12_ENST00000343575.6_Missense_Mutation_p.L16P	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	16					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	GCTGAGGCAGAGCGCGGTCAG	0.781													6	9					0	0	0	0	G	44880407	A	G	44880407	3	3	46	1	0	0	0	0	1	0	0	0	4112	304	11	5	513	5	CXCL12	10	44880407	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	19416031	44880407	90654340	172	8724											
ERCC6	2074	broad.mit.edu	37	chr10	50669597	50669597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttcatgacactgtgcaCgccaactagcaagaaaagaa	15	7	9	10	1	1	3	1	1	0	2	1	3	1	3	1	0	4	3	1	0	6	2	rs115319252	by1000genomes	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:50669597C>T	ENST00000355832.5	-	19	3862	c.3784G>A	c.(3784-3786)Gtg>Atg	p.V1262M	ERCC6_ENST00000465653.1_5'UTR|ERCC6_ENST00000542458.1_Missense_Mutation_p.V632M|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1262					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACACTGTGCACGCCAACTAGC	0.458								Direct reversal of damage;Nucleotide excision repair (NER)					13	41					0	0	0	0	T	50669597	C	T	50669597	3	4	46	1	0	0	0	0	1	0	0	0	5255	536	19	1	709	1	ERCC6	10	50669597	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	5789190	50669597	84865150	173	8725											
NCOA4	8031	broad.mit.edu	37	chr10	51582808	51582808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaacagaagtcagcatccGgtattgtagctgtccctttc	10	13	8	10	1	1	1	1	0	0	1	4	1	3	1	2	1	3	4	2	1	4	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:51582808G>T	ENST00000452682.1	+	8	883	c.631G>T	c.(631-633)Ggt>Tgt	p.G211C	NCOA4_ENST00000344348.6_Missense_Mutation_p.G195C|NCOA4_ENST00000374082.1_Missense_Mutation_p.G195C|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_Missense_Mutation_p.G95C|NCOA4_ENST00000374087.4_Missense_Mutation_p.G195C|NCOA4_ENST00000438493.1_Missense_Mutation_p.G211C|NCOA4_ENST00000414907.2_Missense_Mutation_p.G29C|NCOA4_ENST00000443446.1_Missense_Mutation_p.G195C	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	195					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GTCAGCATCCGGTATTGTAGC	0.478			T	RET	papillary thyroid								41	49					4.01765e-15	4.69824e-15	1	0	T	51582808	G	T	51582808	3	4	46	1	0	0	0	0	1	0	0	0	10301	1116	39	3	657	3	NCOA4	10	51582808	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	913211	51582808	83951939	174	8726											
PCDH15	65217	broad.mit.edu	37	chr10	55591201	55591201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttaatgctggtcactGcctctggagtccggatctcc	5	15	9	12	1	4	0	1	0	3	0	6	2	5	2	3	3	2	1	3	3	1	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:55591201G>T	ENST00000373965.2	-	31	4491	c.4097C>A	c.(4096-4098)gCa>gAa	p.A1366E	PCDH15_ENST00000414778.1_Missense_Mutation_p.A1364E|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1322E|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1366E|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1359E|PCDH15_ENST00000409834.1_Missense_Mutation_p.A970E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1359E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1337E|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1359E|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1288E|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1359E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1359					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTGGTCACTGCCTCTGGAGT	0.463										HNSCC(58;0.16)			41	88					3.38236e-24	4.28298e-24	1	0	T	55591201	G	T	55591201	3	4	46	1	0	0	0	0	1	0	0	0	11582	1319	46	4	3426	4	PCDH15	10	55591201	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	4008393	55591201	79943546	175	8727											
ANK3	288	broad.mit.edu	37	chr10	61831145	61831145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttctggggttaaagggCttttcccagagctgtctaga	7	14	13	7	0	2	2	0	0	2	2	3	2	3	2	1	3	1	4	1	3	3	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:61831145C>T	ENST00000280772.1	-	37	9685	c.9494G>A	c.(9493-9495)aGc>aAc	p.S3165N	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3165					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGTTAAAGGGCTTTTCCCAGA	0.438													69	79					0	0	0	0	T	61831145	C	T	61831145	3	4	46	1	0	0	0	0	1	0	0	0	622	797	28	4	3980	4	ANK3	10	61831145	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	6239944	61831145	73703602	176	8728											
MYPN	84665	broad.mit.edu	37	chr10	69957119	69957119	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttataggggaagatccCgagtgcaagaaagagacaaa	16	7	13	5	1	0	3	0	0	0	3	1	6	1	4	1	2	1	3	1	2	6	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:69957119C>A	ENST00000358913.5	+	16	3657	c.3169C>A	c.(3169-3171)Cga>Aga	p.R1057R	MYPN_ENST00000354393.2_Silent_p.R782R|MYPN_ENST00000540630.1_Silent_p.R1057R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1057	Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGGAAGATCCCGAGTGCAAGA	0.443													85	84					1.07134e-49	1.52844e-49	1	0	A	69957119	C	A	69957119	2	1	46	1	0	0	0	0	0	0	0	1	10168	644	23	3		3	MYPN	10	69957119	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	8125974	69957119	65577628	177	8729											
TACR2	6865	broad.mit.edu	37	chr10	71174866	71174866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggagctgaaagccgaGgctggaaggggtggacgatg	9	6	20	6	2	0	1	0	1	0	0	0	6	0	4	1	6	3	3	1	6	2	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:71174866G>A	ENST00000373306.4	-	2	965	c.422C>T	c.(421-423)cCt>cTt	p.P141L		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	141					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	TGAAAGCCGAGGCTGGAAGGG	0.637													59	78					0	0	0	0	A	71174866	G	A	71174866	3	1	46	1	0	0	0	0	1	0	0	0	15597	1000	35	4	790	4	TACR2	10	71174866	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	1217747	71174866	64359881	178	8730											
LRIT1	26103	broad.mit.edu	37	chr10	86001139	86001139	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagaggggcagaagccccgGgcctgggggggccacgcaag	8	2	20	11	2	0	2	0	1	0	2	0	3	0	2	4	6	1	2	4	6	2	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:86001139G>T	ENST00000372105.3	-	1	78	c.57C>A	c.(55-57)gcC>gcA	p.A19A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	19						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGAAGCCCCGGGCCTGGGGGG	0.672													21	51					2.37509e-13	2.71802e-13	1	0	T	86001139	G	T	86001139	2	4	46	1	0	0	0	0	0	0	0	1	9011	1219	43	4		4	LRIT1	10	86001139	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	14826273	86001139	49533608	179	8731											
PAPSS2	9060	broad.mit.edu	37	chr10	89503171	89503171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcaatcctgtccacaatGgccatgccctgttgatgcag	8	10	10	13	1	0	1	0	1	0	0	2	1	2	1	4	1	3	3	4	1	2	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:89503171G>A	ENST00000361175.4	+	10	1618	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	PAPSS2_ENST00000427144.2_Missense_Mutation_p.G421S|PAPSS2_ENST00000456849.1_Missense_Mutation_p.G422S	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	417					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGTCCACAATGGCCATGCCCT	0.562													30	256					0	0	0	0	A	89503171	G	A	89503171	3	1	46	1	0	0	0	0	1	0	0	0	11506	1348	47	4	1306	4	PAPSS2	10	89503171	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	3502032	89503171	46031576	180	8732											
HECTD2	143279	broad.mit.edu	37	chr10	93245017	93245017	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggatcacattgatctcAtggaagaatatcatacttgg	13	13	8	7	0	3	2	3	1	1	1	4	4	3	4	0	3	1	0	0	3	4	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:93245017A>G	ENST00000446394.1	+	11	1163	c.1063A>G	c.(1063-1065)Atg>Gtg	p.M355V	HECTD2_ENST00000371667.1_Start_Codon_SNP_p.M1V|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000298068.5_Missense_Mutation_p.M351V|HECTD2_ENST00000536715.1_5'UTR			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	351					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CATTGATCTCATGGAAGAATA	0.318													36	105					0	0	0	0	G	93245017	A	G	93245017	3	3	46	1	0	0	0	0	1	0	0	0	7090	217	8	5	1113	5	HECTD2	10	93245017	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	3741846	93245017	42289730	181	8733											
EXOC6	54536	broad.mit.edu	37	chr10	94700544	94700544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaataagagaccaatacAatgaaacactgcttaagaaa	21	8	6	6	0	0	4	0	2	0	2	0	5	0	4	1	0	3	1	1	0	8	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:94700544A>G	ENST00000371552.4	+	13	1287	c.1258A>G	c.(1258-1260)Aat>Gat	p.N420D	EXOC6_ENST00000371547.4_Missense_Mutation_p.N441D|EXOC6_ENST00000443748.2_Missense_Mutation_p.N322D|EXOC6_ENST00000260762.6_Missense_Mutation_p.N425D	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	425					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AGACCAATACAATGAAACACT	0.323													7	44					0	0	0	0	G	94700544	A	G	94700544	3	3	46	1	0	0	0	0	1	0	0	0	5345	130	5	5	1413	5	EXOC6	10	94700544	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	1455527	94700544	40834203	182	8734											
PDCD11	22984	broad.mit.edu	37	chr10	105172881	105172881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgtctaggtgagggcCtgcatcctttgcgtccatcc	4	14	10	13	1	1	1	0	1	1	0	4	1	4	1	5	2	2	1	5	2	1	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:105172881C>T	ENST00000369797.3	+	9	1081	c.987C>T	c.(985-987)gcC>gcT	p.A329A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	329	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGGTGAGGGCCTGCATCCTTT	0.587													66	92					0	0	0	0	T	105172881	C	T	105172881	2	4	46	1	0	0	0	0	0	0	0	1	11688	668	24	4		4	PDCD11	10	105172881	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	10472337	105172881	30361866	183	8735											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606258	1606258	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccacagccccccttggaGcccccagaagagccacagcc	10	2	10	19	0	0	2	0	0	0	2	0	4	0	3	8	1	5	0	8	1	1	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:1606258G>T	ENST00000382171.2	-	1	255	c.222C>A	c.(220-222)ggC>ggA	p.G74G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	74	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAGCCCCCAGAAG	0.677													94	325					9.17388e-59	1.34466e-58	1	0	T	1606258	G	T	1606258	2	4	46	1	0	0	0	0	0	0	0	1	8611	958	34	4		4	KRTAP5-1	11	1606258	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08		1606258	133400258	184	8736											
OR51V1	283111	broad.mit.edu	37	chr11	5221368	5221368	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagatcctggtgcaggCagaaagagtgagaaaggatg	15	5	17	4	0	0	5	0	1	0	5	1	8	1	6	1	4	1	2	1	4	3	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:5221368C>G	ENST00000321255.1	-	1	562	c.563G>C	c.(562-564)tGc>tCc	p.C188S		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGTGCAGGCAGAAAGAGTG	0.398													30	84					0	0	0	0	G	5221368	C	G	5221368	3	3	46	1	0	0	0	0	1	0	0	0	11178	710	25	4	405	4	OR51V1	11	5221368	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	3615110	5221368	129785148	185	8737											
OR51V1	283111	broad.mit.edu	37	chr11	5221625	5221625	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaatgcaggaatccaaGctgatctctcgaatgatccc	11	9	10	11	1	1	2	0	2	1	0	5	4	3	3	2	2	2	3	2	2	4	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:5221625G>C	ENST00000321255.1	-	1	305	c.306C>G	c.(304-306)agC>agG	p.S102R		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAATCCAAGCTGATCTCTC	0.522													42	40					0	0	0	0	C	5221625	G	C	5221625	3	2	46	1	0	0	0	0	1	0	0	0	11178	962	34	4	662	4	OR51V1	11	5221625	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	257	5221625	129784891	186	8738											
PLEKHA7	144100	broad.mit.edu	37	chr11	16838753	16838753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttggcaggtttcggggaGgtggcgaggagccccccgag	6	6	18	11	3	0	0	0	0	0	0	1	4	0	2	3	7	1	2	3	7	0	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:16838753G>A	ENST00000355661.3	-	11	1470	c.1460C>T	c.(1459-1461)cCt>cTt	p.P487L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P487L|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P487L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	487					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTTTCGGGGAGGTGGCGAGGA	0.637													140	152					0	0	0	0	A	16838753	G	A	16838753	3	1	46	1	0	0	0	0	1	0	0	0	12133	1000	35	4	1957	4	PLEKHA7	11	16838753	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	11617128	16838753	118167763	187	8739											
KCNC1	3746	broad.mit.edu	37	chr11	17793670	17793670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgctccgagccagcaccaaCgagttcctgctgctcatcat	9	8	8	16	3	2	0	2	0	0	0	4	2	4	0	4	0	5	5	4	0	1	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:17793670C>T	ENST00000379472.3	+	2	1059	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	KCNC1_ENST00000265969.6_Silent_p.N343N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	343						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CCAGCACCAACGAGTTCCTGC	0.617													22	71					0	0	0	0	T	17793670	C	T	17793670	2	4	46	1	0	0	0	0	0	0	0	1	8067	535	19	1		1	KCNC1	11	17793670	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	954917	17793670	117212846	188	8740											
ANO5	203859	broad.mit.edu	37	chr11	22296134	22296134	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctttattgttgcatttaCgtcagacatcattccccgtc	7	15	7	12	2	2	1	2	0	0	1	4	1	3	1	3	1	2	2	3	1	2	7			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:22296134C>A	ENST00000324559.8	+	20	2572	c.2255C>A	c.(2254-2256)aCg>aAg	p.T752K	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	752						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTGCATTTACGTCAGACATC	0.363													43	49					3.68427e-32	4.8971e-32	1	0	A	22296134	C	A	22296134	3	1	46	1	0	0	0	0	1	0	0	0	699	536	19	3	2333	3	ANO5	11	22296134	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	4502464	22296134	112710382	189	8741											
LRRC4C	57689	broad.mit.edu	37	chr11	40136523	40136523	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgctgcagtaacattcagGgtggctgaagcagtagtatt	10	12	13	6	0	1	1	1	1	0	0	1	1	1	1	0	2	4	8	0	2	4	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:40136523G>T	ENST00000278198.2	-	2	3283	c.1320C>A	c.(1318-1320)acC>acA	p.T440T	LRRC4C_ENST00000527150.1_Silent_p.T440T|LRRC4C_ENST00000530763.1_Silent_p.T440T|LRRC4C_ENST00000528697.1_Silent_p.T440T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	440	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TAACATTCAGGGTGGCTGAAG	0.443													113	125					6.25226e-48	8.83157e-48	1	0	T	40136523	G	T	40136523	2	4	46	1	0	0	0	0	0	0	0	1	9072	1219	43	4		4	LRRC4C	11	40136523	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	17840389	40136523	94869993	190	8742											
OR5D18	219438	broad.mit.edu	37	chr11	55587463	55587463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctttttattagctgtgatgGcctatgaccgcttcgtggcc	5	15	10	11	2	0	2	0	2	0	0	1	2	0	2	4	2	1	2	4	2	3	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:55587463G>A	ENST00000333976.4	+	1	378	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AGCTGTGATGGCCTATGACCG	0.453													79	252					0	0	0	0	A	55587463	G	A	55587463	3	1	46	1	0	0	0	0	1	0	0	0	11228	1203	42	4	360	4	OR5D18	11	55587463	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	15450940	55587463	79419053	191	8743											
OR5D16	390144	broad.mit.edu	37	chr11	55606973	55606973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtgcctcccacctgactgCcatcaccatcttccatggca	7	10	6	18	0	2	1	1	1	1	0	4	1	4	1	6	1	2	1	6	1	0	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:55606973C>T	ENST00000378396.1	+	1	746	c.746C>T	c.(745-747)gCc>gTc	p.A249V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CACCTGACTGCCATCACCATC	0.507													47	175					0	0	0	0	T	55606973	C	T	55606973	3	4	46	1	0	0	0	0	1	0	0	0	11227	739	26	4	748	4	OR5D16	11	55606973	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	19510	55606973	79399543	192	8744											
OR5M10	390167	broad.mit.edu	37	chr11	56344372	56344372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaaaaaagtataaaagaCtgcaattattttggactcct	16	12	6	7	0	1	1	1	0	0	1	2	2	2	2	1	1	1	3	1	1	8	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:56344372C>A	ENST00000526812.2	-	1	891	c.826G>T	c.(826-828)Gtc>Ttc	p.V276F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GTATAAAAGACTGCAATTATT	0.408													76	281					1.38705e-31	1.83228e-31	1	0	A	56344372	C	A	56344372	3	1	46	1	0	0	0	0	1	0	0	0	11244	565	20	4	125	4	OR5M10	11	56344372	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	737399	56344372	78662144	193	8745											
OR9Q2	219957	broad.mit.edu	37	chr11	57958040	57958040	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctccagtggagggttccTctcttcctcatatttttgag	6	16	8	11	0	3	1	1	1	2	0	7	2	5	2	3	2	0	1	3	2	1	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:57958040T>A	ENST00000311591.3	+	1	135	c.78T>A	c.(76-78)ccT>ccA	p.P26P		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GGAGGGTTCCTCTCTTCCTCA	0.493													26	96					0	0	0	0	A	57958040	T	A	57958040	2	1	46	1	0	0	0	0	0	0	0	1	11327	1538	54	5		5	OR9Q2	11	57958040	Silent	SNP	T	TCGA-BB-7870-01A-11D-2229-08	1613668	57958040	77048476	194	8746											
OR5B2	390190	broad.mit.edu	37	chr11	58190401	58190401	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataggccattgaggccaacaAgtaattttccaccgtggcca	12	9	9	11	1	0	1	0	1	0	0	1	1	1	1	5	3	1	1	5	3	4	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:58190401A>C	ENST00000302581.2	-	1	385	c.334T>G	c.(334-336)Ttg>Gtg	p.L112V		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGGCCAACAAGTAATTTTCC	0.527													48	141					0	0	0	0	C	58190401	A	C	58190401	3	2	46	1	0	0	0	0	1	0	0	0	11221	69	3	5	599	5	OR5B2	11	58190401	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	232361	58190401	76816115	195	8747											
SSH3	54961	broad.mit.edu	37	chr11	67075021	67075021	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctctcctcctgtctcaggGccacactccaggtattgcac	6	10	8	17	0	2	0	1	0	2	0	6	0	4	0	5	2	1	2	5	2	1	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:67075021G>T	ENST00000308127.4	+	7	782	c.602_splice	c.e7-1	p.A202_splice	SSH3_ENST00000532181.1_Intron|SSH3_ENST00000376757.5_Splice_Site_p.A202_splice|SSH3_ENST00000308298.7_Splice_Site_p.A202_splice	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	202					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGTCTCAGGGCCACACTCCA	0.642													31	80					1.99505e-19	2.46076e-19	1	0	T	67075021	G	T	67075021	5	4	46	1	0	0	0	0	0	0	1	0	15276	1217	42	4	630	4	SSH3	11	67075021	Splice_Site	SNP	G	TCGA-BB-7870-01A-11D-2229-08	8884620	67075021	67931495	196	8748											
ORAOV1	220064	broad.mit.edu	37	chr11	69488085	69488085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcccgatacccttccccatGaaacctgtgaagaagaagca	13	8	7	13	1	0	4	0	2	0	2	2	5	2	4	5	0	3	1	5	0	5	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:69488085G>A	ENST00000279147.4	-	2	162	c.55C>T	c.(55-57)Cat>Tat	p.H19Y	ORAOV1_ENST00000536870.1_Intron|ORAOV1_ENST00000542341.1_Missense_Mutation_p.H19Y|ORAOV1_ENST00000535657.1_Missense_Mutation_p.H19Y|ORAOV1_ENST00000539414.1_Missense_Mutation_p.H19Y	NM_153451.2	NP_703152.1	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	19										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CCTTCCCCATGAAACCTGTGA	0.478													65	1790					0	0	0	0	A	69488085	G	A	69488085	3	1	46	1	0	0	0	0	1	0	0	0	11331	1290	45	2	374	2	ORAOV1	11	69488085	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	2413064	69488085	65518431	197	8749											
DLG2	1740	broad.mit.edu	37	chr11	84028057	84028057	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atggtctgagaactgtacccGagcccctgacagttcctctg	8	10	10	13	1	2	2	0	2	2	1	3	4	3	2	4	1	3	2	4	1	2	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:84028057G>C	ENST00000280241.8	-	1	131	c.132C>G	c.(130-132)ctC>ctG	p.L44L	DLG2_ENST00000376104.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398301.2_Silent_p.L44L|DLG2_ENST00000532653.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AACTGTACCCGAGCCCCTGAC	0.642													62	276					0	0	0	0	C	84028057	G	C	84028057	2	2	46	1	0	0	0	0	0	0	0	1	4592	1073	37	3		3	DLG2	11	84028057	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	14539972	84028057	50978459	198	8750											
FAT3	120114	broad.mit.edu	37	chr11	92531954	92531954	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatacagcctaatggaaggCagtttggatcattttttaat	13	14	8	6	0	1	0	1	0	0	0	1	2	1	2	1	3	2	2	1	3	4	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:92531954C>A	ENST00000298047.6	+	9	5792	c.5775C>A	c.(5773-5775)ggC>ggA	p.G1925G	FAT3_ENST00000409404.2_Silent_p.G1925G|FAT3_ENST00000525166.1_Silent_p.G1775G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1925	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAATGGAAGGCAGTTTGGATC	0.423										TCGA Ovarian(4;0.039)			5	57					0.014758	0.0147926	1	0	A	92531954	C	A	92531954	2	1	46	1	0	0	0	0	0	0	0	1	5736	697	25	4		4	FAT3	11	92531954	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	8503897	92531954	42474562	199	8751											
ARHGAP20	57569	broad.mit.edu	37	chr11	110501372	110501372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttggccacaacaaacAgatcattgaataggaaaaga	18	9	8	6	0	1	4	1	2	0	2	1	5	1	5	1	2	2	0	1	2	6	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:110501372A>G	ENST00000260283.4	-	4	616	c.332T>C	c.(331-333)cTg>cCg	p.L111P	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L88P|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L75P|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L75P|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L85P|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L85P	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	111	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CACAACAAACAGATCATTGAA	0.398													15	125					0	0	0	0	G	110501372	A	G	110501372	3	3	46	1	0	0	0	0	1	0	0	0	872	188	7	5	3295	5	ARHGAP20	11	110501372	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	17969418	110501372	24505144	200	8752											
MFRP	83552	broad.mit.edu	37	chr11	119212270	119212270	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagggtcagggctgggcAcaagcttccaggtcagctgc	7	8	14	12	0	3	0	3	0	0	0	4	0	4	0	1	4	3	4	1	4	1	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:119212270A>C	ENST00000555262.1	-	13	1887	c.1728T>G	c.(1726-1728)tgT>tgG	p.C576W	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000530681.1_Missense_Mutation_p.C576W|MFRP_ENST00000449574.2_Missense_Mutation_p.C576W|MFRP_ENST00000360167.4_Missense_Mutation_p.C458W	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AGGGCTGGGCACAAGCTTCCA	0.652													22	98					0	0	0	0	C	119212270	A	C	119212270	3	2	46	1	0	0	0	0	1	0	0	0	9595	157	6	5	15	5	MFRP	11	119212270	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	8710898	119212270	15794246	201	8753											
GRIK4	2900	broad.mit.edu	37	chr11	120776131	120776131	+	Frame_Shift_Del	DEL	G	G	-																															actacaagatccgcctggttGgggatggcgtgtacggcgtt																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:120776131delG	ENST00000527524.2	+	13	1692	c.1405delG	c.(1405-1407)ggfs	p.G469fs	GRIK4_ENST00000438375.2_Frame_Shift_Del_p.G469fs			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	469					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.G469W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CCGCCTGGTTGGGGATGGCGT	0.597													162	194	---	---	---	---					-	120776131	G	-	120776131	7	5	46	1	0	1	0	1	0	0	0	0	6826	1348	47	0	1447	0	GRIK4	11	120776131	Frame_Shift_Del	DEL	G	TCGA-BB-7870-01A-11D-2229-08	1563861	120776131	14230385	202	8754											
OR10G4	390264	broad.mit.edu	37	chr11	123886778	123886778	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catattgactttccatttgcCctactgtggacccaaccaga	10	12	6	13	0	0	2	0	1	0	1	1	3	1	3	4	1	3	0	4	1	3	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:123886778C>G	ENST00000320891.4	+	1	497	c.497C>G	c.(496-498)cCc>cGc	p.P166R		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTCCATTTGCCCTACTGTGGA	0.562													140	209					0	0	0	0	G	123886778	C	G	123886778	3	3	46	1	0	0	0	0	1	0	0	0	10972	623	22	4	499	4	OR10G4	11	123886778	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	3110647	123886778	11119738	203	8755											
OR10G9	219870	broad.mit.edu	37	chr11	123894151	123894151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagatgtgccctcctggcCaccagcacttggctcagtgg	7	8	12	14	0	1	1	1	0	0	1	2	1	2	1	4	3	3	3	4	3	0	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:123894151C>T	ENST00000375024.1	+	1	432	c.432C>T	c.(430-432)gcC>gcT	p.A144A		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCCTCCTGGCCACCAGCACTT	0.527													45	214					0	0	0	0	T	123894151	C	T	123894151	2	4	46	1	0	0	0	0	0	0	0	1	10975	581	21	4		4	OR10G9	11	123894151	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	7373	123894151	11112365	204	8756											
OR8D2	283160	broad.mit.edu	37	chr11	124189760	124189760	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctgtcagaaggtagcCttctgcaattacaaaaataa	15	10	8	8	0	2	1	1	0	1	1	2	1	2	1	1	2	3	3	1	2	7	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:124189760C>A	ENST00000357438.2	-	1	424	c.334G>T	c.(334-336)Ggc>Tgc	p.G112C		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGAAGGTAGCCTTCTGCAATT	0.408													30	71					2.12542e-12	2.38136e-12	1	0	A	124189760	C	A	124189760	3	1	46	1	0	0	0	0	1	0	0	0	11303	681	24	4	604	4	OR8D2	11	124189760	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	295609	124189760	10816756	205	8757											
CACNA1C	775	broad.mit.edu	37	chr12	2797877	2797877	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtccggcccgtctccctcAtggtgcccagccaggctggg	4	7	14	16	2	2	0	1	0	1	0	4	1	3	0	5	4	2	1	5	4	0	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:2797877A>G	ENST00000399655.1	+	46	6314	c.6049A>G	c.(6049-6051)Atg>Gtg	p.M2017V	CACNA1C_ENST00000399601.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.M2065V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.M2042V|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Missense_Mutation_p.M2036V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.M2037V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.M2036V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.M2052V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.M2034V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.M2052V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.M2088V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.M2023V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.M2045V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.M2025V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.M2036V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.M2025V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.M2058V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.M2088V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.M2017V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2100					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGTCTCCCTCATGGTGCCCAG	0.711													35	60					0	0	0	0	G	2797877	A	G	2797877	3	3	46	1	0	0	0	0	1	0	0	0	2565	217	8	5	6940	5	CACNA1C	12	2797877	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08		2797877	131054018	206	8758											
GUCY2C	2984	broad.mit.edu	37	chr12	14766103	14766103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgcaagtattccagaGtgccttttttatagctggct	8	15	9	9	0	1	1	1	0	0	1	2	1	2	1	2	1	4	5	2	1	4	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:14766103G>T	ENST00000261170.3	-	27	3306	c.3170C>A	c.(3169-3171)aCt>aAt	p.T1057N	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1057					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GTATTCCAGAGTGCCTTTTTT	0.413													170	266					4.48428e-77	6.75799e-77	1	0	T	14766103	G	T	14766103	3	4	46	1	0	0	0	0	1	0	0	0	6946	1029	36	4	55	4	GUCY2C	12	14766103	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	11968226	14766103	119085792	207	8759											
SLCO1A2	6579	broad.mit.edu	37	chr12	21446919	21446919	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggatgtctcacaaccagcaAgacaagctgacagatatgac	15	7	9	10	0	1	4	1	2	1	2	2	5	1	5	1	1	3	2	1	1	4	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:21446919A>G	ENST00000307378.6	-	12	2117	c.1397T>C	c.(1396-1398)cTt>cCt	p.L466P	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.L464P|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.L334P|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.L334P|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.L466P	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	466	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ACAACCAGCAAGACAAGCTGA	0.403													47	68					0	0	0	0	G	21446919	A	G	21446919	3	3	46	1	0	0	0	0	1	0	0	0	14810	72	3	5	635	5	SLCO1A2	12	21446919	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	6680816	21446919	112404976	208	8760											
LRRK2	120892	broad.mit.edu	37	chr12	40692983	40692983	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaccttagtaagaaccaCatttcatccctatcagagaa	16	11	4	10	0	2	2	2	0	0	2	3	3	3	2	3	0	2	1	3	0	7	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:40692983C>T	ENST00000298910.7	+	25	3478	c.3420C>T	c.(3418-3420)caC>caT	p.H1140H	LRRK2_ENST00000343742.2_Silent_p.H1140H	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1140					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTAAGAACCACATTTCATCCC	0.388													52	236					0	0	0	0	T	40692983	C	T	40692983	2	4	46	1	0	0	0	0	0	0	0	1	9097	477	17	4		4	LRRK2	12	40692983	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	19246064	40692983	93158912	209	8761											
ADAMTS20	80070	broad.mit.edu	37	chr12	43944800	43944800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggcgcaggtccgagggcCctgcgtcgctctcccaggcc	4	6	15	16	4	1	0	0	0	1	0	4	1	2	0	4	4	1	2	4	4	0	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:43944800C>A	ENST00000389420.3	-	2	364	c.365G>T	c.(364-366)gGg>gTg	p.G122V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G122V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	122						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTCCGAGGGCCCTGCGTCGCT	0.657													29	48					3.73988e-18	4.50893e-18	1	0	A	43944800	C	A	43944800	3	1	46	1	0	0	0	0	1	0	0	0	266	623	22	4	5518	4	ADAMTS20	12	43944800	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	3251817	43944800	89907095	210	8762											
KRT6C	286887	broad.mit.edu	37	chr12	52864970	52864970	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctgagcaatctcctcGtattgggccttgacctcagc	6	12	8	15	1	3	2	1	2	2	0	6	2	4	2	4	1	2	2	4	1	2	3	rs11540289	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:52864970G>C	ENST00000252250.6	-	5	1070	c.1023C>G	c.(1021-1023)taC>taG	p.Y341*		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	341	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CAATCTCCTCGTATTGGGCCT	0.572													282	414					0	0	0	0	C	52864970	G	C	52864970	4	2	46	1	0	0	0	0	0	1	0	0	8534	1140	40	3	691	3	KRT6C	12	52864970	Nonsense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	8920170	52864970	80986925	211	8763											
KRT3	3850	broad.mit.edu	37	chr12	53187953	53187953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcagagtccaggcgccCtctctccccgaggatgttgt	6	9	11	15	2	2	1	1	0	1	1	5	3	4	2	4	2	1	2	4	2	0	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:53187953C>T	ENST00000417996.2	-	2	882	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	KRT3_ENST00000309505.3_Missense_Mutation_p.G270R	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	270	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCCAGGCGCCCTCTCTCCCCG	0.547													92	399					0	0	0	0	T	53187953	C	T	53187953	3	4	46	1	0	0	0	0	1	0	0	0	8518	681	24	4	1110	4	KRT3	12	53187953	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	322983	53187953	80663942	212	8764											
NEUROD4	58158	broad.mit.edu	37	chr12	55420705	55420705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtggagatgctgtgtaaagGgctctctcagcccacaagca	10	9	12	10	0	2	1	1	0	1	1	3	2	2	1	1	2	3	4	1	2	3	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:55420705G>A	ENST00000242994.3	+	2	860	c.482G>A	c.(481-483)gGg>gAg	p.G161E		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	161					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CTGTGTAAAGGGCTCTCTCAG	0.517													66	103					0	0	0	0	A	55420705	G	A	55420705	3	1	46	1	0	0	0	0	1	0	0	0	10420	1232	43	4	484	4	NEUROD4	12	55420705	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	2232752	55420705	78431190	213	8765											
HSD17B6	8630	broad.mit.edu	37	chr12	57175987	57175987	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctactgtgtctccaagtaTggagtggaagccttttcaga	9	12	12	8	0	2	1	1	0	1	1	3	3	2	3	2	3	2	2	2	3	4	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:57175987T>C	ENST00000554643.1	+	4	892	c.543T>C	c.(541-543)taT>taC	p.Y181Y	HSD17B6_ENST00000322165.1_Silent_p.Y181Y|HSD17B6_ENST00000555805.1_Silent_p.Y181Y|HSD17B6_ENST00000555159.1_Silent_p.Y181Y|HSD17B6_ENST00000554150.1_Silent_p.Y181Y			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	181					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TCTCCAAGTATGGAGTGGAAG	0.423													57	89					0	0	0	0	C	57175987	T	C	57175987	2	2	46	1	0	0	0	0	0	0	0	1	7437	1471	51	5		5	HSD17B6	12	57175987	Silent	SNP	T	TCGA-BB-7870-01A-11D-2229-08	1755282	57175987	76675908	214	8766											
ARHGAP9	64333	broad.mit.edu	37	chr12	57866398	57866398	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtctcctgctctggccGaaacagggttggtccaaaca	10	9	11	11	1	2	1	0	0	2	1	4	2	3	1	3	3	3	2	3	3	2	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:57866398G>T	ENST00000393797.2	-	21	2560	c.2368C>A	c.(2368-2370)Cgg>Agg	p.R790R	ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000430041.2_Silent_p.R516R|ARHGAP9_ENST00000393791.3_Silent_p.R700R|ARHGAP9_ENST00000356411.2_Silent_p.R719R|ARHGAP9_ENST00000424809.2_3'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	719					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TGCTCTGGCCGAAACAGGGTT	0.552													43	58					2.59497e-14	3.01806e-14	1	0	T	57866398	G	T	57866398	2	4	46	1	0	0	0	0	0	0	0	1	891	1057	37	3		3	ARHGAP9	12	57866398	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	690411	57866398	75985497	215	8767											
IRAK3	11213	broad.mit.edu	37	chr12	66638788	66638788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatccaaaacatatccagCtggtaagaattgttttcatc	14	13	6	8	0	1	2	1	1	0	1	4	2	3	2	2	1	2	3	2	1	5	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:66638788C>A	ENST00000261233.4	+	10	1568	c.1147C>A	c.(1147-1149)Ctg>Atg	p.L383M	IRAK3_ENST00000457197.2_Missense_Mutation_p.L322M	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	383	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ACATATCCAGCTGGTAAGAAT	0.363													60	109					2.44813e-32	3.26418e-32	1	0	A	66638788	C	A	66638788	3	1	46	1	0	0	0	0	1	0	0	0	7877	796	28	4	1185	4	IRAK3	12	66638788	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	8772390	66638788	67213107	216	8768											
PTPRB	5787	broad.mit.edu	37	chr12	70934711	70934711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaacagaccagcactcaCaccttcaatagctccaaaca	18	6	3	14	0	2	1	2	0	0	1	3	1	3	1	3	0	4	2	3	0	6	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:70934711C>A	ENST00000334414.6	-	23	5565	c.5521G>T	c.(5521-5523)Gtg>Ttg	p.V1841L	PTPRB_ENST00000550358.1_Missense_Mutation_p.V1753L|PTPRB_ENST00000550857.1_Missense_Mutation_p.V1533L|PTPRB_ENST00000538708.1_Missense_Mutation_p.V1533L|PTPRB_ENST00000261266.5_Missense_Mutation_p.V1623L|PTPRB_ENST00000451516.2_Missense_Mutation_p.V1533L	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1623	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCAGCACTCACACCTTCAATA	0.413													9	16					0.00621372	0.00627234	1	0	A	70934711	C	A	70934711	3	1	46	1	0	0	0	0	1	0	0	0	12878	478	17	4	1174	4	PTPRB	12	70934711	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	4295923	70934711	62917184	217	8769											
PTPRB	5787	broad.mit.edu	37	chr12	71016374	71016374	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttaaaggtagtgagaatctgGggtggagccgtgtttctagt	9	13	15	4	1	2	1	0	1	2	1	2	3	2	2	1	4	1	2	1	4	5	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:71016374G>C	ENST00000334414.6	-	3	548	c.504C>G	c.(502-504)ccC>ccG	p.P168P	PTPRB_ENST00000550358.1_Silent_p.P168P|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.P167P	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAGAATCTGGGGTGGAGCCG	0.448													7	14					0	0	0	0	C	71016374	G	C	71016374	2	2	46	1	0	0	0	0	0	0	0	1	12878	1219	43	4		4	PTPRB	12	71016374	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	81663	71016374	62835521	218	8770											
PTPRR	5801	broad.mit.edu	37	chr12	71158516	71158516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cactccttggcggaagatccGaagcaaggttatgttcagct	10	10	11	10	2	1	1	1	0	0	1	3	3	3	2	2	3	2	4	2	3	4	3	rs139968754	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:71158516G>C	ENST00000283228.2	-	3	852	c.400C>G	c.(400-402)Cgg>Ggg	p.R134G	PTPRR_ENST00000342084.4_Missense_Mutation_p.R22G	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	134					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CGGAAGATCCGAAGCAAGGTT	0.383													55	98					0	0	0	0	C	71158516	G	C	71158516	3	2	46	1	0	0	0	0	1	0	0	0	12892	1057	37	3	1621	3	PTPRR	12	71158516	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	142142	71158516	62693379	219	8771											
PHLDA1	22822	broad.mit.edu	37	chr12	76424417	76424417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggatgcgggtgcgggtGagggtgtgggtgcgagtgag	4	8	25	4	4	0	2	0	2	0	0	0	4	0	3	0	5	4	0	0	5	0	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:76424417G>T	ENST00000266671.5	-	1	3295	c.1105C>A	c.(1105-1107)Cac>Aac	p.H369N	PHLDA1_ENST00000602540.1_Missense_Mutation_p.H228N|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	369	14 X 2 AA repeats of P-H.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				gggtgcgggtgagggtgtggg	0.662													14	22					1.5842e-08	1.68666e-08	1	0	T	76424417	G	T	76424417	3	4	46	1	0	0	0	0	1	0	0	0	11920	1290	45	2	104	2	PHLDA1	12	76424417	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	5265901	76424417	57427478	220	8772											
SYT1	6857	broad.mit.edu	37	chr12	79611319	79611319	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgagcgagagtcaccAtgaggccctggcagccccgc	9	5	14	13	2	1	3	1	2	0	1	1	4	1	3	4	3	2	1	4	3	1	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:79611319A>G	ENST00000261205.4	+	4	677	c.20A>G	c.(19-21)cAt>cGt	p.H7R	SYT1_ENST00000552744.1_Missense_Mutation_p.H7R|SYT1_ENST00000457153.2_Missense_Mutation_p.H7R|SYT1_ENST00000393240.3_Missense_Mutation_p.H7R	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	7					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GAGAGTCACCATGAGGCCCTG	0.537													56	85					0	0	0	0	G	79611319	A	G	79611319	3	3	46	1	0	0	0	0	1	0	0	0	15556	217	8	5	22	5	SYT1	12	79611319	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	3186902	79611319	54240576	221	8773											
PPFIA2	8499	broad.mit.edu	37	chr12	81676811	81676811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcccagcttccttcctcaGattctttctgtgttagcagc	5	14	9	13	0	3	1	1	0	2	1	5	1	5	1	3	1	3	3	3	1	1	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:81676811G>A	ENST00000550584.2	-	25	3291	c.2996C>T	c.(2995-2997)tCt>tTt	p.S999F	PPFIA2_ENST00000333447.7_Missense_Mutation_p.S984F|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S904F|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S846F|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S978F|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S900F|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S984F|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S999F|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S999F|PPFIA2_ENST00000545296.2_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	904										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCTTCCTCAGATTCTTTCTG	0.323													3	43					0	0	0	0	A	81676811	G	A	81676811	3	1	46	1	0	0	0	0	1	0	0	0	12381	942	33	2	805	2	PPFIA2	12	81676811	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	2065492	81676811	52175084	222	8774											
CRADD	8738	broad.mit.edu	37	chr12	94072577	94072577	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gccagagacaaacaagtactCcgctcacttcgcctggagct	11	7	9	14	2	1	1	1	0	0	1	3	3	2	2	3	1	3	3	3	1	3	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:94072577C>G	ENST00000542893.2	+	2	345	c.27C>G	c.(25-27)ctC>ctG	p.L9L	CRADD_ENST00000541813.1_Silent_p.L9L|CRADD_ENST00000552033.1_Silent_p.L9L|CRADD_ENST00000552983.1_Silent_p.L9L|CRADD_ENST00000332896.3_Silent_p.L9L|CRADD_ENST00000548483.1_Silent_p.L9L			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	9	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						AACAAGTACTCCGCTCACTTC	0.488													4	129					0	0	0	0	G	94072577	C	G	94072577	2	3	46	1	0	0	0	0	0	0	0	1	3875	842	30	2		2	CRADD	12	94072577	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	12395766	94072577	39779318	223	8775											
TMPO	7112	broad.mit.edu	37	chr12	98927584	98927584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaggcagctgccttcactgGcatgcaaatatccagtttct	10	11	8	12	0	2	0	1	0	1	0	3	0	3	0	2	2	3	5	2	2	2	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:98927584G>T	ENST00000266732.4	+	4	1787	c.1549G>T	c.(1549-1551)Gca>Tca	p.A517S	TMPO_ENST00000393053.2_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000261210.5_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTTCACTGGCATGCAAATA	0.393													71	82					1.02487e-32	1.37506e-32	1	0	T	98927584	G	T	98927584	3	4	46	1	0	0	0	0	1	0	0	0	16331	1203	42	4	1563	4	TMPO	12	98927584	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	4855007	98927584	34924311	224	8776											
RBM19	9904	broad.mit.edu	37	chr12	114386746	114386746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctcttcgttctcccCgagtatccggccttgccagg	3	12	8	18	3	2	0	0	0	2	0	7	1	5	0	7	2	1	2	7	2	1	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:114386746C>A	ENST00000545145.2	-	10	1246	c.1168G>T	c.(1168-1170)Ggg>Tgg	p.G390W	RBM19_ENST00000392561.3_Missense_Mutation_p.G390W|RBM19_ENST00000261741.5_Missense_Mutation_p.G390W	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	390					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.G390W(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCGTTCTCCCCGAGTATCCGG	0.577													137	243					2.42733e-55	3.50978e-55	1	0	A	114386746	C	A	114386746	3	1	46	1	0	0	0	0	1	0	0	0	13203	652	23	3	1774	3	RBM19	12	114386746	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	15459162	114386746	19465149	225	8777											
TMEM132D	121256	broad.mit.edu	37	chr12	130184675	130184675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcccctccggctggtcCacggacttcctcctcccggc	2	8	12	19	3	0	0	0	0	0	0	6	1	6	1	7	6	0	1	7	6	0	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:130184675C>T	ENST00000422113.2	-	2	974	c.648G>A	c.(646-648)gtG>gtA	p.V216V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	216						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCGGCTGGTCCACGGACTTCC	0.692													28	91					0	0	0	0	T	130184675	C	T	130184675	2	4	46	1	0	0	0	0	0	0	0	1	16141	581	21	4		4	TMEM132D	12	130184675	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	15797929	130184675	3667220	226	8778											
EP400	57634	broad.mit.edu	37	chr12	132529259	132529259	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagacagaagtcatgcCggtgagtgctgccctctccc	7	8	13	13	1	2	3	1	1	1	2	3	3	2	3	3	2	3	2	3	2	1	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:132529259C>T	ENST00000333577.4	+	37	6846	c.6738_splice	c.e37+1	p.P2246_splice	EP400_ENST00000332482.4_Splice_Site_p.P2173_splice|EP400_ENST00000330386.6_Splice_Site_p.P2129_splice|EP400_ENST00000389561.2_Splice_Site_p.P2210_splice|EP400_ENST00000389562.2_Splice_Site_p.P2209_splice			Q96L91	EP400_HUMAN	E1A binding protein p400	2246					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAAGTCATGCCGGTGAGTGCT	0.547													73	121					0	0	0	0	T	132529259	C	T	132529259	5	4	46	1	0	0	0	0	0	0	1	0	5187	666	23	1	6764	1	EP400	12	132529259	Splice_Site	SNP	C	TCGA-BB-7870-01A-11D-2229-08	2344584	132529259	1322636	227	8779											
OLFM4	10562	broad.mit.edu	37	chr13	53603068	53603068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctccaattcccagccccGgcttcagctctttcccaggt	6	10	7	18	1	2	0	1	0	1	0	5	1	5	0	6	2	2	2	6	2	1	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:53603068G>T	ENST00000219022.2	+	1	175	c.97G>T	c.(97-99)Ggc>Tgc	p.G33C		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	33	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TCCCAGCCCCGGCTTCAGCTC	0.607													150	193					8.57268e-76	1.28741e-75	1	0	T	53603068	G	T	53603068	3	4	46	1	0	0	0	0	1	0	0	0	10926	1116	39	3	99	3	OLFM4	13	53603068	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08		53603068	61566810	228	8780											
PCDH17	27253	broad.mit.edu	37	chr13	58206752	58206752	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagaacctcaactactcCgtgccggaggagcaaggggc	11	5	12	13	2	2	1	2	0	0	1	3	3	3	3	3	4	5	1	3	4	5	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:58206752C>G	ENST00000377918.3	+	1	98	c.72C>G	c.(70-72)tcC>tcG	p.S24S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	24	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCAACTACTCCGTGCCGGAGG	0.637													36	49					0	0	0	0	G	58206752	C	G	58206752	2	3	46	1	0	0	0	0	0	0	0	1	11583	639	23	3		3	PCDH17	13	58206752	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	4603684	58206752	56963126	229	8781											
PCDH17	27253	broad.mit.edu	37	chr13	58208455	58208455	+	Missense_Mutation	SNP	C	C	A																															ccccacgctgcagaacgacaCcgcggagctgcaggtgccgc																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:58208455C>A	ENST00000377918.3	+	1	1801	c.1775C>A	c.(1774-1776)aCc>aAc	p.T592N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	592	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGAACGACACCGCGGAGCTG	0.662													60	64					1.93748e-29	2.53591e-29	1	0	A	58208455	C	A	58208455	3	1	46	1	0	0	0	0	1	0	0	0	11583	507	18	4	1777	4	PCDH17	13	58208455	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	1703	58208455	56961423	230	8782	79	2									
PCDH17	27253	broad.mit.edu	37	chr13	58208456	58208456	+	Silent	SNP	C	C	G																															cccacgctgcagaacgacacCgcggagctgcaggtgccgcg																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:58208456C>G	ENST00000377918.3	+	1	1802	c.1776C>G	c.(1774-1776)acC>acG	p.T592T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	592	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGAACGACACCGCGGAGCTGC	0.662													60	65					0	0	0	0	G	58208456	C	G	58208456	2	3	46	1	0	0	0	0	0	0	0	1	11583	639	23	3		3	PCDH17	13	58208456	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	1	58208456	56961422	231	8783	79	2									
SOX21	11166	broad.mit.edu	37	chr13	95364236	95364236	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgggccatcttgcgcCgctgagcccgcgaccacacc	5	7	10	19	4	2	1	0	1	2	0	3	2	2	1	6	1	2	1	6	1	0	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:95364236C>A	ENST00000376945.2	-	1	153	c.68G>T	c.(67-69)cGg>cTg	p.R23L		NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	23					regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					CATCTTGCGCCGCTGAGCCCG	0.667													37	106					1.56738e-10	1.70696e-10	1	0	A	95364236	C	A	95364236	3	1	46	1	0	0	0	0	1	0	0	0	15038	652	23	3	766	3	SOX21	13	95364236	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	37155780	95364236	19805642	232	8784											
HS6ST3	266722	broad.mit.edu	37	chr13	97485339	97485339	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggaccgccagaagcggCgggaggagcggaggctgcag	10	1	21	9	4	0	2	0	0	0	2	0	6	0	6	2	6	3	2	2	6	1	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:97485339C>A	ENST00000376705.2	+	2	1327	c.1303C>A	c.(1303-1305)Cgg>Agg	p.R435R		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	435						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CCAGAAGCGGCGGGAGGAGCG	0.597													96	121					1.16068e-44	1.62343e-44	1	0	A	97485339	C	A	97485339	2	1	46	1	0	0	0	0	0	0	0	1	7422	759	27	3		3	HS6ST3	13	97485339	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	2121103	97485339	17684539	233	8785											
TNFSF13B	10673	broad.mit.edu	37	chr13	108955624	108955624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacacatttgttccatggCttctcagctttaaaagggga	10	14	8	9	0	1	0	1	0	1	0	3	1	2	1	1	3	2	3	1	3	3	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:108955624C>T	ENST00000375887.4	+	4	683	c.505C>T	c.(505-507)Ctt>Ttt	p.L169F	TNFSF13B_ENST00000542136.1_Intron|TNFSF13B_ENST00000479435.1_3'UTR|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.L150F	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	169					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			TGTTCCATGGCTTCTCAGCTT	0.348													21	54					0	0	0	0	T	108955624	C	T	108955624	3	4	46	1	0	0	0	0	1	0	0	0	16400	797	28	4	519	4	TNFSF13B	13	108955624	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	11470285	108955624	6214254	234	8786											
RNASE7	84659	broad.mit.edu	37	chr14	21511429	21511429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaaatagcctgcaagaatgGcgataaaaactgccaccaga	18	5	8	10	1	0	2	0	0	0	2	0	3	0	2	3	1	4	1	3	1	8	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:21511429G>A	ENST00000298690.4	+	2	535	c.278G>A	c.(277-279)gGc>gAc	p.G93D	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961.2	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	93					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGCAAGAATGGCGATAAAAAC	0.557													81	150					0	0	0	0	A	21511429	G	A	21511429	3	1	46	1	0	0	0	0	1	0	0	0	13493	1203	42	4	280	4	RNASE7	14	21511429	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08		21511429	85838111	235	8787											
CDH24	64403	broad.mit.edu	37	chr14	23518342	23518342	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccacagagccgtcaggCtggcagcggcacacactaac	11	4	12	14	2	1	1	1	0	0	1	1	2	1	1	2	3	4	3	2	3	1	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:23518342C>T	ENST00000397359.3	-	12	2113	c.1854G>A	c.(1852-1854)caG>caA	p.Q618Q	CDH24_ENST00000487137.2_Silent_p.Q580Q|CDH24_ENST00000554034.1_Silent_p.Q580Q|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000267383.5_Silent_p.Q618Q	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	618	Cadherin 5.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGCCGTCAGGCTGGCAGCGGC	0.657													17	23					0	0	0	0	T	23518342	C	T	23518342	2	4	46	1	0	0	0	0	0	0	0	1	3138	796	28	4		4	CDH24	14	23518342	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	2006913	23518342	83831198	236	8788											
ACIN1	22985	broad.mit.edu	37	chr14	23530761	23530761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggggggtgcaggggcCgtggtattccctgctcctct	2	10	19	10	1	1	0	0	0	1	0	3	0	3	0	3	8	2	3	3	8	1	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:23530761C>T	ENST00000262710.1	-	17	3671	c.3344G>A	c.(3343-3345)cGg>cAg	p.R1115Q	ACIN1_ENST00000605057.1_Missense_Mutation_p.R1057Q|ACIN1_ENST00000357481.2_Missense_Mutation_p.R357Q|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1075Q|ACIN1_ENST00000397341.3_Missense_Mutation_p.R357Q|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1102Q|ACIN1_ENST00000557515.1_Missense_Mutation_p.R356Q|ACIN1_ENST00000338631.6_Missense_Mutation_p.R388Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1115	Pro-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTGCAGGGGCCGTGGTATTCC	0.647													8	23					0	0	0	0	T	23530761	C	T	23530761	3	4	46	1	0	0	0	0	1	0	0	0	142	652	23	1	693	1	ACIN1	14	23530761	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	12419	23530761	83818779	237	8789											
SCFD1	23256	broad.mit.edu	37	chr14	31112596	31112596	+	Frame_Shift_Del	DEL	T	T	-																															tagttgacagcctcttctgcTtttttgttactctgggtaag																								rs35121540		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:31112596delT	ENST00000458591.2	+	7	825	c.598delT	c.(598-600)ttfs	p.F201fs	SCFD1_ENST00000396629.2_Frame_Shift_Del_p.F109fs|SCFD1_ENST00000541123.1_Frame_Shift_Del_p.F16fs|SCFD1_ENST00000421551.3_Frame_Shift_Del_p.F142fs|SCFD1_ENST00000544052.2_Frame_Shift_Del_p.F134fs	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	201				FV -> YG (in Ref. 2; AAD40381 and 4; AAP97146).|FVTLGA -> YGTRGD (in Ref. 2; AAD48586).	post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CCTCTTCTGCTTTTTTGTTAC	0.338													99	164	---	---	---	---					-	31112596	T	-	31112596	7	5	46	1	0	1	0	1	0	0	0	0	13975	1609	56	0	624	0	SCFD1	14	31112596	Frame_Shift_Del	DEL	T	TCGA-BB-7870-01A-11D-2229-08	7581835	31112596	76236944	238	8790											
FNTB	2342	broad.mit.edu	37	chr14	65511078	65511078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggaggatttcagggccGctgcaacaagctggtggatg	10	8	16	7	1	1	1	1	1	0	0	1	4	1	4	1	5	3	3	1	5	3	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:65511078G>A	ENST00000246166.2	+	9	1106	c.872G>A	c.(871-873)cGc>cAc	p.R291H	MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000542227.1_Missense_Mutation_p.R245H|CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.R325H|CHURC1-FNTB_ENST00000448390.2_Missense_Mutation_p.R47H	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTTCAGGGCCGCTGCAACAAG	0.592													31	373					0	0	0	0	A	65511078	G	A	65511078	3	1	46	1	0	0	0	0	1	0	0	0	6023	1087	38	1	906	1	FNTB	14	65511078	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	34398482	65511078	41838462	239	8791											
SMEK1	55671	broad.mit.edu	37	chr14	91942249	91942249	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgtaccatggatggattaTattcaaccaagtatgagaat	14	12	8	7	1	1	1	1	1	0	1	2	4	1	3	2	2	2	2	2	2	7	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:91942249T>C	ENST00000554684.1	-	7	1668	c.1172A>G	c.(1171-1173)tAt>tGt	p.Y391C	SMEK1_ENST00000428424.2_Missense_Mutation_p.Y152C|SMEK1_ENST00000555462.1_Missense_Mutation_p.Y152C|SMEK1_ENST00000554943.1_Missense_Mutation_p.Y391C|SMEK1_ENST00000337238.4_Missense_Mutation_p.Y391C			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	391						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GGATGGATTATATTCAACCAA	0.363													22	89					0	0	0	0	C	91942249	T	C	91942249	3	2	46	1	0	0	0	0	1	0	0	0	14881	1406	49	5	1326	5	SMEK1	14	91942249	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	26431171	91942249	15407291	240	8792											
DLK1	8788	broad.mit.edu	37	chr14	101200827	101200827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgtcaagaagcgcgCgctgagcccccagcaggtca	9	5	12	15	3	2	2	2	1	0	1	2	2	2	2	3	1	3	2	3	1	2	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:101200827C>T	ENST00000341267.4	+	5	988	c.746C>T	c.(745-747)gCg>gTg	p.A249V	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	249					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.A249V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AAGAAGCGCGCGCTGAGCCCC	0.682													51	128					0	0	0	0	T	101200827	C	T	101200827	3	4	46	1	0	0	0	0	1	0	0	0	4601	768	27	1	764	1	DLK1	14	101200827	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	9258578	101200827	6148713	241	8793											
TMEM179	388021	broad.mit.edu	37	chr14	105070800	105070800	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcccttgcagaggaagaaGagcgtgcgccaggcgtgcgc	8	6	16	11	4	0	3	0	0	0	3	1	4	1	4	2	2	4	1	2	2	2	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:105070800G>A	ENST00000341595.3	-	1	1184	c.279C>T	c.(277-279)ctC>ctT	p.L93L	TMEM179_ENST00000556573.1_Silent_p.L93L	NM_207379.1	NP_997262.1	Q6ZVK1	T179A_HUMAN	transmembrane protein 179	93						integral to membrane				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		AGAGGAAGAAGAGCGTGCGCC	0.751													6	23					0	0	0	0	A	105070800	G	A	105070800	2	1	46	1	0	0	0	0	0	0	0	1	16190	929	33	2		2	TMEM179	14	105070800	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	3869973	105070800	2278740	242	8794											
INF2	64423	broad.mit.edu	37	chr14	105181075	105181075	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacatccctggacaagtcCttctccgaggatgcggtgac	9	8	11	13	2	1	1	0	1	1	0	4	5	3	3	3	3	1	0	3	3	1	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:105181075C>A	ENST00000392634.4	+	21	3688	c.3576C>A	c.(3574-3576)tcC>tcA	p.S1192S	INF2_ENST00000330634.7_Silent_p.S1192S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1192					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGGACAAGTCCTTCTCCGAGG	0.687													20	36					1.96292e-10	2.13231e-10	1	0	A	105181075	C	A	105181075	2	1	46	1	0	0	0	0	0	0	0	1	7787	668	24	4		4	INF2	14	105181075	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	110275	105181075	2168465	243	8795											
MAGEL2	54551	broad.mit.edu	37	chr15	23889926	23889926	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagacacaactacgggcagAgagctccctgggctttcaga	11	7	11	12	1	2	3	2	0	0	3	3	4	3	3	1	2	3	3	1	2	2	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:23889926A>G	ENST00000532292.1	-	1	1249	c.1155T>C	c.(1153-1155)tcT>tcC	p.S385S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTACGGGCAGAGAGCTCCCTG	0.637													15	71					0	0	0	0	G	23889926	A	G	23889926	2	3	46	1	0	0	0	0	0	0	0	1	9258	291	11	5		5	MAGEL2	15	23889926	Silent	SNP	A	TCGA-BB-7870-01A-11D-2229-08		23889926	78641466	244	8796											
ATP10A	57194	broad.mit.edu	37	chr15	25924782	25924782	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccctcctggactcctcagGacagcctcccctggcgcaga	7	6	9	19	1	1	1	1	0	0	1	4	3	4	3	6	3	1	1	6	3	0	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:25924782G>T	ENST00000356865.6	-	21	4317	c.4206C>A	c.(4204-4206)gtC>gtA	p.V1402V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1402					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GACTCCTCAGGACAGCCTCCC	0.657													32	101					4.4194e-11	4.83761e-11	1	0	T	25924782	G	T	25924782	2	4	46	1	0	0	0	0	0	0	0	1	1120	1161	41	2		2	ATP10A	15	25924782	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	2034856	25924782	76606610	245	8797											
ATP10A	57194	broad.mit.edu	37	chr15	25953178	25953178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactggaagaggagctcctcGctgttttccagggaggattc	8	10	14	9	1	0	1	0	0	0	1	4	6	2	5	2	4	1	3	2	4	1	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:25953178G>A	ENST00000356865.6	-	12	2631	c.2520C>T	c.(2518-2520)agC>agT	p.S840S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	840					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAGCTCCTCGCTGTTTTCCA	0.502													24	94					0	0	0	0	A	25953178	G	A	25953178	2	1	46	1	0	0	0	0	0	0	0	1	1120	1078	38	1		1	ATP10A	15	25953178	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	28396	25953178	76578214	246	8798											
ATP10A	57194	broad.mit.edu	37	chr15	25958826	25958826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggggtgggagtacctgaaGagcagggctgcaggagatcc	10	5	18	8	0	0	3	0	1	0	2	1	5	1	4	2	5	3	4	2	5	2	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:25958826G>A	ENST00000356865.6	-	10	2450	c.2339C>T	c.(2338-2340)tCt>tTt	p.S780F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	780					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGTACCTGAAGAGCAGGGCTG	0.567													25	29					0	0	0	0	A	25958826	G	A	25958826	3	1	46	1	0	0	0	0	1	0	0	0	1120	942	33	2	2208	2	ATP10A	15	25958826	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	5648	25958826	76572566	247	8799											
ATP10A	57194	broad.mit.edu	37	chr15	25961899	25961899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgttcgtggctgatccgggGacgtgacgacgactgtgttg	5	12	16	8	5	0	2	0	2	0	0	2	5	1	3	1	3	0	3	1	3	0	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:25961899G>T	ENST00000356865.6	-	9	1865	c.1754C>A	c.(1753-1755)tCc>tAc	p.S585Y		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	585					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTGATCCGGGGACGTGACGAC	0.587													43	204					4.00472e-15	4.69594e-15	1	0	T	25961899	G	T	25961899	3	4	46	1	0	0	0	0	1	0	0	0	1120	1174	41	2	2797	2	ATP10A	15	25961899	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	3073	25961899	76569493	248	8800											
GABRB3	2562	broad.mit.edu	37	chr15	26792997	26792997	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagaaaaagtgaatggaaaCacgatcctggaccatctgtc	16	7	10	8	1	1	2	0	1	1	1	3	6	2	4	2	2	1	0	2	2	4	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:26792997C>A	ENST00000541819.2	-	10	1635	c.1533G>T	c.(1531-1533)gtG>gtT	p.V511V	GABRB3_ENST00000311550.5_Silent_p.V455V|GABRB3_ENST00000545868.1_Silent_p.V370V|GABRB3_ENST00000400188.3_Silent_p.V384V|GABRB3_ENST00000299267.4_Silent_p.V455V			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	455					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	TGAATGGAAACACGATCCTGG	0.393													62	88					7.41606e-26	9.53175e-26	1	0	A	26792997	C	A	26792997	2	1	46	1	0	0	0	0	0	0	0	1	6216	465	17	4		4	GABRB3	15	26792997	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	831098	26792997	75738395	249	8801											
MFAP1	4236	broad.mit.edu	37	chr15	44097469	44097469	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacctgagcgtccaaagttCttgacctgagggaaggatgg	10	8	14	9	2	1	3	0	3	1	0	2	6	2	5	3	3	1	1	3	3	2	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:44097469C>A	ENST00000267812.3	-	9	1375	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	381						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		Gtccaaagttcttgacctgag	0.468													37	115					6.70999e-13	7.6177e-13	1	0	A	44097469	C	A	44097469	3	1	46	1	0	0	0	0	1	0	0	0	9582	912	32	2	180	2	MFAP1	15	44097469	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	17304472	44097469	58433923	250	8802											
USP8	9101	broad.mit.edu	37	chr15	50788043	50788043	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttaaatcattttatttccAggctgataatcggaagagat	13	14	8	6	1	1	2	1	1	0	1	3	4	2	3	1	2	0	2	1	2	5	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:50788043A>T	ENST00000433963.1	+	18	3158		c.e18-1		USP8_ENST00000425032.3_Splice_Site|USP8_ENST00000396444.3_Splice_Site|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Splice_Site	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8						cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTTTATTTCCAGGCTGATAAT	0.323													25	27					0	0	0	0	T	50788043	A	T	50788043	5	4	46	1	0	0	0	0	0	0	1	0	17185	202	7	5	2719	5	USP8	15	50788043	Splice_Site	SNP	A	TCGA-BB-7870-01A-11D-2229-08	6690574	50788043	51743349	251	8803											
DYX1C1	161582	broad.mit.edu	37	chr15	55724725	55724725	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caattctagttgacagaatgCtgttccacgtcgtacatgtg	10	13	9	9	2	1	2	0	1	1	1	3	2	2	2	1	0	2	4	1	0	4	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:55724725C>G	ENST00000321149.3	-	9	1490	c.1123G>C	c.(1123-1125)Gca>Cca	p.A375P	DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Intron|DYX1C1_ENST00000448430.2_Intron|DYX1C1_ENST00000348518.3_Intron|DYX1C1_ENST00000457155.2_Intron	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	375					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TGACAGAATGCTGTTCCACGT	0.328													30	93					0	0	0	0	G	55724725	C	G	55724725	3	3	46	1	0	0	0	0	1	0	0	0	4898	797	28	4	250	4	DYX1C1	15	55724725	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	4936682	55724725	46806667	252	8804											
NOX5	79400	broad.mit.edu	37	chr15	69347743	69347743	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatgaaggccattggccTgcagatggcccttgacctcc	8	9	11	13	0	0	4	0	3	0	1	1	4	1	4	5	3	1	1	5	3	1	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:69347743T>A	ENST00000260364.5	+	16	2316	c.2015T>A	c.(2014-2016)cTg>cAg	p.L672Q	NOX5_ENST00000388866.3_Missense_Mutation_p.L690Q|NOX5_ENST00000530406.2_Missense_Mutation_p.L662Q|NOX5_ENST00000455873.3_Missense_Mutation_p.L655Q|NOX5_ENST00000448182.3_Missense_Mutation_p.L644Q			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	690					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCCATTGGCCTGCAGATGGCC	0.597													65	55					0	0	0	0	A	69347743	T	A	69347743	3	1	46	1	0	0	0	0	1	0	0	0	10629	1580	55	5	2160	5	NOX5	15	69347743	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	13623018	69347743	33183649	253	8805											
MYO9A	4649	broad.mit.edu	37	chr15	72227722	72227722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccaggagtttgctgctagTtgaattagcaaatattccat	11	14	8	8	0	0	1	0	1	0	0	2	2	2	2	2	1	3	5	2	1	5	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:72227722T>C	ENST00000356056.5	-	17	2954	c.2482A>G	c.(2482-2484)Act>Gct	p.T828A	MYO9A_ENST00000566885.1_Missense_Mutation_p.T448A|MYO9A_ENST00000424560.1_Missense_Mutation_p.T828A|MYO9A_ENST00000564571.1_Missense_Mutation_p.T828A|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.T809A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	828					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGCTGCTAGTTGAATTAGCA	0.383													48	111					0	0	0	0	C	72227722	T	C	72227722	3	2	46	1	0	0	0	0	1	0	0	0	10154	1725	60	5	5268	5	MYO9A	15	72227722	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	2879979	72227722	30303670	254	8806											
PML	5371	broad.mit.edu	37	chr15	74325808	74325808	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgccagggtctgggcGgtgcccctcttctgtatttt	2	13	12	14	2	3	0	0	0	3	0	3	0	3	0	4	3	2	1	4	3	1	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:74325808G>A	ENST00000563500.1	+	5	1576	c.1566G>A	c.(1564-1566)gcG>gcA	p.A522A	PML_ENST00000569477.1_Intron|PML_ENST00000567543.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000268059.6_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000436891.3_Intron|PML_ENST00000435786.2_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Intron|PML_ENST00000268058.3_Intron			P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGGTCTGGGCGGTGCCCCTCT	0.607			T	"RARA, PAX5"	"APL, ALL"								31	22					0	0	0	0	A	74325808	G	A	74325808	2	1	46	1	0	0	0	0	0	0	0	1	12207	1131	39	1		1	PML	15	74325808	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	2098086	74325808	28205584	255	8807											
PDZD9	255762	broad.mit.edu	37	chr16	21995692	21995692	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaggaggaagagctttCattgtcttgcttcaccatta	10	13	11	7	0	3	2	2	0	1	2	3	4	3	4	1	3	2	3	1	3	3	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:21995692C>A	ENST00000286143.6	-	5	826	c.505G>T	c.(505-507)Gaa>Taa	p.E169*	PDZD9_ENST00000424898.2_Nonsense_Mutation_p.E231*|PDZD9_ENST00000537222.2_Nonsense_Mutation_p.E171*			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	231										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						GAAGAGCTTTCATTGTCTTGC	0.453													144	401					1.82087e-56	2.64181e-56	1	0	A	21995692	C	A	21995692	4	1	46	1	0	0	0	0	0	1	0	0	11777	835	29	2	107	2	PDZD9	16	21995692	Nonsense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08		21995692	68359061	256	8808											
PPP4C	5531	broad.mit.edu	37	chr16	30093844	30093844	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacaattctatgacctcaaaGagctgttcagagtaagagtg	14	10	10	7	0	3	4	2	1	1	3	3	5	3	4	1	0	1	3	1	0	4	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:30093844G>C	ENST00000279387.7	+	4	358	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	PPP4C_ENST00000561610.1_Missense_Mutation_p.E64Q	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	64					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						TGACCTCAAAGAGCTGTTCAG	0.537													51	59					0	0	0	0	C	30093844	G	C	30093844	3	2	46	1	0	0	0	0	1	0	0	0	12478	943	33	2	200	2	PPP4C	16	30093844	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	8098152	30093844	60260909	257	8809											
ZNF423	23090	broad.mit.edu	37	chr16	49671630	49671630	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtagttgcagtggaaggcaGagatgttgccaaactgcatc	12	9	13	7	0	0	1	0	0	0	1	1	3	0	2	1	2	4	6	1	2	3	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:49671630G>C	ENST00000561648.1	-	4	1486	c.1433C>G	c.(1432-1434)tCt>tGt	p.S478C	ZNF423_ENST00000567169.1_Missense_Mutation_p.S361C|ZNF423_ENST00000562871.1_Missense_Mutation_p.S418C|ZNF423_ENST00000563137.2_Missense_Mutation_p.S418C|ZNF423_ENST00000262383.2_Missense_Mutation_p.S478C|ZNF423_ENST00000535559.1_Missense_Mutation_p.S361C|ZNF423_ENST00000562520.1_Missense_Mutation_p.S418C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	478					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTGGAAGGCAGAGATGTTGCC	0.582													38	137					0	0	0	0	C	49671630	G	C	49671630	3	2	46	1	0	0	0	0	1	0	0	0	17993	942	33	2	2441	2	ZNF423	16	49671630	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	19577786	49671630	40683123	258	8810											
SLC6A2	6530	broad.mit.edu	37	chr16	55730200	55730200	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctggatctacattctGggctgttgtgtttttcgtca	4	18	10	9	1	4	0	1	0	3	0	5	1	4	1	1	2	1	3	1	2	1	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:55730200G>A	ENST00000379906.2	+	8	1466	c.1211G>A	c.(1210-1212)tGg>tAg	p.W404*	SLC6A2_ENST00000561820.1_Nonsense_Mutation_p.W404*|SLC6A2_ENST00000568943.1_Nonsense_Mutation_p.W404*|SLC6A2_ENST00000414754.3_Nonsense_Mutation_p.W404*|SLC6A2_ENST00000567238.1_Nonsense_Mutation_p.W299*|SLC6A2_ENST00000219833.8_Nonsense_Mutation_p.W404*|SLC6A2_ENST00000566163.1_Nonsense_Mutation_p.W359*	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	404					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCTACATTCTGGGCTGTTGTG	0.527													29	140					0	0	0	0	A	55730200	G	A	55730200	4	1	46	1	0	0	0	0	0	1	0	0	14771	1357	47	4	1332	4	SLC6A2	16	55730200	Nonsense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	6058570	55730200	34624553	259	8811											
ZFP90	146198	broad.mit.edu	37	chr16	68597604	68597604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagcatgagaatgctcataCcggagagaaaccctatcagt	14	8	9	10	1	3	2	3	1	0	2	3	5	3	3	2	1	4	2	2	1	4	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:68597604C>A	ENST00000570495.1	+	5	1206	c.914C>A	c.(913-915)aCc>aAc	p.T305N	RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.T305N|ZFP90_ENST00000563169.2_Missense_Mutation_p.T305N			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	305					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AATGCTCATACCGGAGAGAAA	0.488													33	105					1.74807e-11	1.92333e-11	1	0	A	68597604	C	A	68597604	3	1	46	1	0	0	0	0	1	0	0	0	17749	507	18	4	928	4	ZFP90	16	68597604	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	12867404	68597604	21757149	260	8812											
HYDIN	54768	broad.mit.edu	37	chr16	70841641	70841641	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgttgatcttcttgggccGcacagactctccagcgcgaa	7	11	11	12	3	3	2	0	1	3	1	4	3	3	2	2	1	1	3	2	1	1	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:70841641G>T	ENST00000393567.2	-	86	15358	c.15208C>A	c.(15208-15210)Cgg>Agg	p.R5070R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5070										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517													39	144					1.04594e-18	1.27539e-18	1	0	T	70841641	G	T	70841641	2	4	46	1	0	0	0	0	0	0	0	1	7520	1086	38	3		3	HYDIN	16	70841641	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	2244037	70841641	19513112	261	8813											
ZFHX3	463	broad.mit.edu	37	chr16	72992274	72992274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttattggcactttcgtcagCgaagtccagcctcctgccgc	6	12	9	14	3	1	0	1	0	0	0	4	1	3	0	4	1	3	1	4	1	2	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:72992274C>A	ENST00000268489.5	-	2	2443	c.1771G>T	c.(1771-1773)Gct>Tct	p.A591S	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	591					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A591S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTTCGTCAGCGAAGTCCAGC	0.542													55	77					1.11015e-26	1.43116e-26	1	0	A	72992274	C	A	72992274	3	1	46	1	0	0	0	0	1	0	0	0	17729	768	27	3	9376	3	ZFHX3	16	72992274	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	2150633	72992274	17362479	262	8814											
TP53	7157	broad.mit.edu	37	chr17	7578255	7578255	+	Frame_Shift_Del	DEL	T	T	-																															tactccacacgcaaatttccTtccactcggataagatgctg																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:7578255delT	ENST00000420246.2	-	6	726	c.594delA	c.(592-594)gafs	p.E198fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.E198fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E198fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E198fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.E198fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E198fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	198	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.G199fs*48(3)|p.E198_L201>V(1)|p.G67fs*>24(1)|p.E198_G199ins21(1)|p.E198fs*7(1)|p.G106fs*48(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAATTTCCTTCCACTCGGA	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			115	38	---	---	---	---					-	7578255	T	-	7578255	7	5	46	1	0	1	0	1	0	0	0	0	16476	1606	56	0	700	0	TP53	17	7578255	Frame_Shift_Del	DEL	T	TCGA-BB-7870-01A-11D-2229-08		7578255	73616955	263	8815											
MYOCD	93649	broad.mit.edu	37	chr17	12656076	12656076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacccgtccccagtccacGtgtgcacggaggaaagtctc	8	7	11	15	3	1	0	0	0	1	0	4	2	3	2	4	2	2	2	4	2	1	0	rs149104165	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:12656076G>T	ENST00000425538.1	+	10	1671	c.1471G>T	c.(1471-1473)Gtg>Ttg	p.V491L	MYOCD_ENST00000343344.4_Missense_Mutation_p.V491L|MYOCD_ENST00000395988.1_Missense_Mutation_p.V395L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	491	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCAGTCCACGTGTGCACGGA	0.612													103	35					1.50986e-39	2.07788e-39	1	0	T	12656076	G	T	12656076	3	4	46	1	0	0	0	0	1	0	0	0	10157	1145	40	3	1509	3	MYOCD	17	12656076	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	5077821	12656076	68539134	264	8816											
MAP2K3	5606	broad.mit.edu	37	chr17	21215473	21215473	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattgagatggccatcctgcGgttcccttacgagtcctggg	6	11	13	11	2	0	1	0	1	0	1	3	4	3	1	4	3	2	1	4	3	1	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:21215473G>C	ENST00000342679.4	+	10	1043	c.794G>C	c.(793-795)cGg>cCg	p.R265P	MAP2K3_ENST00000316920.6_Missense_Mutation_p.R236P|MAP2K3_ENST00000361818.5_Missense_Mutation_p.R236P	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	265	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCCATCCTGCGGTTCCCTTAC	0.672													8	140					0	0	0	0	C	21215473	G	C	21215473	3	2	46	1	0	0	0	0	1	0	0	0	9307	1116	39	3	832	3	MAP2K3	17	21215473	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	8559397	21215473	59979737	265	8817											
NOS2	4843	broad.mit.edu	37	chr17	26091081	26091081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcttttggagcagcagctGggttgggggtgtggtgatgt	5	12	19	5	0	0	1	0	1	0	0	0	2	0	2	0	5	4	5	0	5	0	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:26091081G>T	ENST00000313735.6	-	21	2751	c.2518C>A	c.(2518-2520)Cag>Aag	p.Q840K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	840	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGCAGCAGCTGGGTTGGGGGT	0.632													25	41					1.5548e-18	1.8905e-18	1	0	T	26091081	G	T	26091081	3	4	46	1	0	0	0	0	1	0	0	0	10613	1357	47	4	971	4	NOS2	17	26091081	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	4875608	26091081	55104129	266	8818											
LRRC37B	114659	broad.mit.edu	37	chr17	30376361	30376362	+	Frame_Shift_Ins	INS	-	-	T																															gaccaacaaaaaacaaattaINStattaatgagaacatggaac																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:30376361_30376362insT	ENST00000327564.7	+	10	2766_2767	c.2705_2706insT	c.(2704-2706)tatfs	p.Y902fs	LRRC37B_ENST00000394713.3_Frame_Shift_Ins_p.Y824fs|LRRC37B_ENST00000341671.7_Frame_Shift_Ins_p.Y875fs|LRRC37B_ENST00000584368.1_Frame_Shift_Ins_p.Y836fs|LRRC37B_ENST00000543378.2_Frame_Shift_Ins_p.Y793fs			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	875						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AAAACAAATTATATTAATGAGA	0.436													27	60	---	---	---	---					T	30376362	-	T	30376361	7	5	46	1	0	1	1	0	0	0	0	0	9058	449	16	0	2662	0	LRRC37B	17	30376361	Frame_Shift_Ins	INS	-	TCGA-BB-7870-01A-11D-2229-08	4285280	30376361	50818849	267	8819											
TMEM132E	124842	broad.mit.edu	37	chr17	32965040	32965040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccgaggaccccgccagctCgcccacctccaagcgcaagc	9	2	10	20	4	0	0	0	0	0	0	2	2	1	1	7	1	4	2	7	1	2	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:32965040C>T	ENST00000321639.5	+	10	3072	c.2744C>T	c.(2743-2745)tCg>tTg	p.S915L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	915						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCCGCCAGCTCGCCCACCTCC	0.701													19	13					0	0	0	0	T	32965040	C	T	32965040	3	4	46	1	0	0	0	0	1	0	0	0	16142	893	31	1	2782	1	TMEM132E	17	32965040	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	2588679	32965040	48230170	268	8820											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39262015	39262015	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcatctccagctgctgTcgccccagctgctgtgtgtc	3	12	11	15	1	1	0	0	0	1	0	4	0	1	0	3	0	6	6	3	0	0	0	rs140170009	by1000genomes	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:39262015T>C	ENST00000391415.1	+	1	432	c.375T>C	c.(373-375)tgT>tgC	p.C125C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	125	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccagctgctgtcgccccagct	0.662													5	129					0	0	0	0	C	39262015	T	C	39262015	2	2	46	1	0	0	0	0	0	0	0	1	8610	1673	58	5		5	KRTAP4-9	17	39262015	Silent	SNP	T	TCGA-BB-7870-01A-11D-2229-08	6296975	39262015	41933195	269	8821											
ABCA8	10351	broad.mit.edu	37	chr17	66880537	66880537	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagagagaagaaaagagaaGctgcaaaagaaaagacaatt	25	3	10	3	0	0	6	0	0	0	6	0	8	0	6	0	0	2	2	0	0	10	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:66880537G>A	ENST00000269080.2	-	26	3567	c.3429_splice	c.e26-1	p.L1144_splice	ABCA8_ENST00000586539.1_Splice_Site_p.L1184_splice|ABCA8_ENST00000430352.2_Splice_Site_p.L1184_splice	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1144						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAAAAGAGAAGCTGCAAAAGA	0.353													34	8					0	0	0	0	A	66880537	G	A	66880537	5	1	46	1	0	0	0	0	0	0	1	0	38	985	34	4	1367	4	ABCA8	17	66880537	Splice_Site	SNP	G	TCGA-BB-7870-01A-11D-2229-08	27618522	66880537	14314673	270	8822											
SEPT9	10801	broad.mit.edu	37	chr17	75478454	75478454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgccactcaaccaatgccGgaaaccagcctcagccccca	12	4	6	19	1	2	0	2	0	0	0	2	1	2	1	7	1	6	0	7	1	3	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:75478454G>A	ENST00000592420.1	+	2	832	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	SEPT9_ENST00000427180.1_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000423034.2_Intron			Q9UHD8	SEPT9_HUMAN	septin 9	193					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			AACCAATGCCGGAAACCAGCC	0.587													3	39					0	0	0	0	A	75478454	G	A	75478454	3	1	46	1	0	0	0	0	1	0	0	0	14158	1131	39	1		1	SEPT9	17	75478454	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	8597917	75478454	5716756	271	8823											
ZNF750	79755	broad.mit.edu	37	chr17	80790186	80790186	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagtaatcgagtttttacAaagaccatacttcatgtgat	15	14	6	6	1	1	2	1	1	0	1	2	3	1	2	1	0	2	2	1	0	6	7			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:80790186A>G	ENST00000269394.3	-	2	978	c.145T>C	c.(145-147)Tgt>Cgt	p.C49R	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	49						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGTTTTTACAAAGACCATAC	0.438													104	159					0	0	0	0	G	80790186	A	G	80790186	3	3	46	1	0	0	0	0	1	0	0	0	18226	130	5	5	2034	5	ZNF750	17	80790186	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	5311732	80790186	405024	272	8824											
EPB41L3	23136	broad.mit.edu	37	chr18	5394711	5394711	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcttctggtgtgatctCtgtctctttatggaccacta	6	17	7	11	0	4	1	0	1	4	0	7	2	5	2	2	2	0	0	2	2	2	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:5394711C>A	ENST00000341928.2	-	22	3575	c.3235G>T	c.(3235-3237)Gag>Tag	p.E1079*	EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E1079*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.E384*|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.E376*|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E857*|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E857*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1079	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGTGTGATCTCTGTCTCTTTA	0.527													88	113					4.7146e-34	6.36545e-34	1	0	A	5394711	C	A	5394711	4	1	46	1	0	0	0	0	0	1	0	0	5192	922	32	2	32	2	EPB41L3	18	5394711	Nonsense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08		5394711	72682537	273	8825											
LAMA1	284217	broad.mit.edu	37	chr18	7016508	7016508	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtgtacagctaccatcctGgtaggcgtagaagccatggg	10	8	13	10	2	0	1	0	0	0	1	1	1	1	1	3	3	4	4	3	3	5	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:7016508G>C	ENST00000389658.3	-	21	3064	c.2971C>G	c.(2971-2973)Cag>Gag	p.Q991E		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	991	Laminin EGF-like 10.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTACCATCCTGGTAGGCGTAG	0.522													68	230					0	0	0	0	C	7016508	G	C	7016508	3	2	46	1	0	0	0	0	1	0	0	0	8658	1357	47	4	6428	4	LAMA1	18	7016508	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	1621797	7016508	71060740	274	8826											
SLMO1	10650	broad.mit.edu	37	chr18	12421573	12421573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggacattgacatacatccGagaacattctgtggtggatc	12	11	10	8	1	1	2	0	1	1	1	3	5	2	4	1	3	2	0	1	3	3	4	rs8090913		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:12421573G>A	ENST00000592149.1	+	2	596	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	SLMO1_ENST00000590956.1_5'UTR|SLMO1_ENST00000587735.1_5'UTR|SLMO1_ENST00000440960.1_Missense_Mutation_p.R79Q|SLMO1_ENST00000336990.4_Missense_Mutation_p.R79Q			Q96N28	SLMO1_HUMAN	slowmo homolog 1 (Drosophila)	79	PRELI/MSF1.									endometrium(1)	1						ACATACATCCGAGAACATTCT	0.408													48	212					0	0	0	0	A	12421573	G	A	12421573	3	1	46	1	0	0	0	0	1	0	0	0	14838	1058	37	1	246	1	SLMO1	18	12421573	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	5405065	12421573	65655675	275	8827											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-																															tccagttatgcccagctcctTcctcctcctcctcctcctct																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													7	264	---	---	---	---					-	12986929	TCC	-	12986927	7	5	46	1	0	1	0	1	0	0	0	0	14096	1770	62	0	1188	0	SEH1L	18	12986927	In_Frame_Del	DEL	TCC	TCGA-BB-7870-01A-11D-2229-08	565354	12986927	65090321	276	8828											
DCC	1630	broad.mit.edu	37	chr18	50451655	50451655	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttgcttatctccaatgtGacagatgatgacagtggaat	13	12	9	7	0	1	4	0	3	1	1	2	5	1	5	1	1	2	1	1	1	4	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:50451655G>C	ENST00000442544.2	+	5	1516	c.900G>C	c.(898-900)gtG>gtC	p.V300V	DCC_ENST00000412726.1_Silent_p.V148V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	300	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTCCAATGTGACAGATGATG	0.378													93	105					0	0	0	0	C	50451655	G	C	50451655	2	2	46	1	0	0	0	0	0	0	0	1	4314	1277	45	2		2	DCC	18	50451655	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	37464728	50451655	27625593	277	8829											
PHLPP1	23239	broad.mit.edu	37	chr18	60563123	60563123	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaatgaatttactgacAttcccgaagtattggagaaa	14	13	7	7	1	1	3	1	2	0	1	2	5	2	3	1	1	1	1	1	1	6	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:60563123A>T	ENST00000400316.4	+	6	2568	c.787A>T	c.(787-789)Att>Ttt	p.I263F	PHLPP1_ENST00000262719.5_Missense_Mutation_p.I775F	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	775					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ATTTACTGACATTCCCGAAGT	0.403													42	81					0	0	0	0	T	60563123	A	T	60563123	3	4	46	1	0	0	0	0	1	0	0	0	11926	217	8	5	2345	5	PHLPP1	18	60563123	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	10111468	60563123	17514125	278	8830											
LPPR3	79948	broad.mit.edu	37	chr19	815258	815258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatgctgccctccgcccCggcgggccccccggcacggc	2	5	14	20	5	0	1	0	1	0	0	1	1	1	1	7	4	2	3	7	4	0	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:815258C>T	ENST00000359894.2	-	4	394	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	LPPR3_ENST00000520876.3_Missense_Mutation_p.G111R	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		111						integral to membrane	phosphatidate phosphatase activity										CCCTccgccccggcgggcccc	0.706													3	33					0	0	0	0	T	815258	C	T	815258	3	4	46	1	0	0	0	0	1	0	0	0	8990	652	23	1	1925	1	LPPR3	19	815258	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08		815258	58313725	279	8831											
DIRAS1	148252	broad.mit.edu	37	chr19	2717735	2717735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccttcacgaagcgcagcaCcagcgagctcttgcccacgc	8	5	10	18	4	2	0	1	0	1	0	2	2	2	0	3	0	5	3	3	0	1	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:2717735C>T	ENST00000323469.4	-	2	253	c.70G>A	c.(70-72)Gtg>Atg	p.V24M	DIRAS1_ENST00000585334.1_Missense_Mutation_p.V24M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	24					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		AAGCGCAGCACCAGCGAGCTC	0.677													27	113					0	0	0	0	T	2717735	C	T	2717735	3	4	46	1	0	0	0	0	1	0	0	0	4567	507	18	4	530	4	DIRAS1	19	2717735	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	1902477	2717735	56411248	280	8832											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-																															ccttgggccctggtcgcgggGctgctgctgctgctgctgct																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)ggg>gg	p.GL34del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	34					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768													7	152	---	---	---	---					-	6531151	GCT	-	6531149	7	5	46	1	0	1	0	1	0	0	0	0	16406	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-BB-7870-01A-11D-2229-08	3813414	6531149	52597834	281	8833											
MUC16	94025	broad.mit.edu	37	chr19	9068558	9068558	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctgtgtttatagaaggAtgcattgtgtgtgtatctgt	8	17	12	4	0	1	1	0	0	1	1	1	2	1	2	0	1	2	4	0	1	4	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:9068558A>T	ENST00000397910.4	-	3	19091	c.18888T>A	c.(18886-18888)caT>caA	p.H6296Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6298	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						TTATAGAAGGATGCATTGTGT	0.443													81	161					0	0	0	0	T	9068558	A	T	9068558	3	4	46	1	0	0	0	0	1	0	0	0	10043	330	12	5	24963	5	MUC16	19	9068558	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	2537409	9068558	50060425	282	8834											
KEAP1	9817	broad.mit.edu	37	chr19	10610642	10610642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcccctgccccctcagggCactgtgactgcaggggcagg	5	6	14	16	1	1	1	1	1	0	0	2	1	2	1	4	4	2	3	4	4	0	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:10610642C>T	ENST00000171111.5	-	2	615	c.68G>A	c.(67-69)tGc>tAc	p.C23Y	KEAP1_ENST00000393623.2_Missense_Mutation_p.C23Y	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	23			C -> Y (in a breast cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.C23Y(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCCCTCAGGGCACTGTGACTG	0.652													81	112					0	0	0	0	T	10610642	C	T	10610642	3	4	46	1	0	0	0	0	1	0	0	0	8193	710	25	4	1826	4	KEAP1	19	10610642	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	1542084	10610642	48518341	283	8835											
CACNA1A	773	broad.mit.edu	37	chr19	13411423	13411423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgccacctccttggctttCtgtagggcaagtttctggtt	4	16	10	11	0	3	0	0	0	3	0	4	0	4	0	3	3	1	5	3	3	2	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:13411423C>T	ENST00000360228.5	-	18	2219	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	CACNA1A_ENST00000573710.2_Silent_p.Q741Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	741					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCTTGGCTTTCTGTAGGGCAA	0.522													105	176					0	0	0	0	T	13411423	C	T	13411423	2	4	46	1	0	0	0	0	0	0	0	1	2563	912	32	2		2	CACNA1A	19	13411423	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	2800781	13411423	45717560	284	8836											
PGLYRP2	114770	broad.mit.edu	37	chr19	15580643	15580643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgtagttgcccactatggCcacgccgaagccccgggagt	7	7	14	13	3	0	0	0	0	0	0	0	2	0	1	5	3	2	2	5	3	3	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:15580643C>T	ENST00000292609.4	-	4	1570	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.A481T			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	481					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCCACTATGGCCACGCCGAAG	0.726													19	15					0	0	0	0	T	15580643	C	T	15580643	3	4	46	1	0	0	0	0	1	0	0	0	11866	739	26	4	297	4	PGLYRP2	19	15580643	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	2169220	15580643	43548340	285	8837											
GTPBP3	84705	broad.mit.edu	37	chr19	17448916	17448916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgctgcggcatcgcagtgatCcggaccagcggccccgccag	6	4	14	17	6	0	1	0	1	0	0	2	2	1	2	5	3	2	3	5	3	0	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:17448916C>G	ENST00000324894.8	+	2	221	c.153C>G	c.(151-153)atC>atG	p.I51M	GTPBP3_ENST00000361619.5_Missense_Mutation_p.I73M|GTPBP3_ENST00000600625.1_Missense_Mutation_p.I51M|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Missense_Mutation_p.I51M	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	51					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						TCGCAGTGATCCGGACCAGCG	0.721													11	41					0	0	0	0	G	17448916	C	G	17448916	3	3	46	1	0	0	0	0	1	0	0	0	6931	845	30	2	159	2	GTPBP3	19	17448916	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	1868273	17448916	41680067	286	8838											
ZNF675	171392	broad.mit.edu	37	chr19	23836878	23836878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctttgccacattcttcaCatttgtagggtttctctcct	6	17	7	11	0	3	0	1	0	2	0	5	0	4	0	2	2	1	3	2	2	1	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:23836878C>T	ENST00000359788.4	-	4	1025	c.857G>A	c.(856-858)tGt>tAt	p.C286Y	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	286					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTCTTCACATTTGTAGGG	0.378													21	48					0	0	0	0	T	23836878	C	T	23836878	3	4	46	1	0	0	0	0	1	0	0	0	18177	478	17	4	853	4	ZNF675	19	23836878	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	6387962	23836878	35292105	287	8839											
ZNF569	148266	broad.mit.edu	37	chr19	37904957	37904957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaattctcagatgtctgatGaggtccaaagtctgattgaa	12	13	10	6	0	3	6	1	5	3	1	5	6	4	6	1	1	0	0	1	1	3	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:37904957G>A	ENST00000316950.6	-	6	1160	c.603C>T	c.(601-603)ctC>ctT	p.L201L	ZNF569_ENST00000392149.2_Silent_p.L201L|ZNF569_ENST00000392150.2_Silent_p.L42L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTCTGATGAGGTCCAAAG	0.358													58	64					0	0	0	0	A	37904957	G	A	37904957	2	1	46	1	0	0	0	0	0	0	0	1	18095	1277	45	2		2	ZNF569	19	37904957	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	14068079	37904957	21224026	288	8840											
ZNF793	390927	broad.mit.edu	37	chr19	38023283	38023283	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtcattcaaagatgtggTtgtgggcttcacccaagagg	9	12	13	7	0	3	2	3	0	0	2	3	2	3	2	1	3	0	2	1	3	2	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:38023283T>C	ENST00000445217.1	+	2	76	c.41T>C	c.(40-42)gTt>gCt	p.V14A	ZNF793_ENST00000588578.1_Missense_Mutation_p.V14A|ZNF793_ENST00000587143.1_Missense_Mutation_p.V14A|ZNF793_ENST00000542455.1_Missense_Mutation_p.V14A|ZNF793_ENST00000587986.1_Missense_Mutation_p.V14A|ZNF793_ENST00000589319.1_Missense_Mutation_p.V14A			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	14	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGATGTGGTTGTGGGCTTC	0.507													46	46					0	0	0	0	C	38023283	T	C	38023283	3	2	46	1	0	0	0	0	1	0	0	0	18258	1725	60	5	47	5	ZNF793	19	38023283	Missense_Mutation	SNP	T	TCGA-BB-7870-01A-11D-2229-08	118326	38023283	21105700	289	8841											
CNTD2	79935	broad.mit.edu	37	chr19	40730639	40730639	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatacctacgtgcacctggAccagccagtctaccaccagg	11	6	9	15	1	1	1	0	0	1	1	1	2	1	2	6	2	5	1	6	2	3	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:40730639A>C	ENST00000430325.2	-	2	395	c.347T>G	c.(346-348)gTc>gGc	p.V116G	CNTD2_ENST00000513948.1_Missense_Mutation_p.V10G|CNTD2_ENST00000433940.1_Intron	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	116					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						GTGCACCTGGACCAGCCAGTC	0.697													7	28					0	0	0	0	C	40730639	A	C	40730639	3	2	46	1	0	0	0	0	1	0	0	0	3666	275	10	5	592	5	CNTD2	19	40730639	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	2707356	40730639	18398344	290	8842											
PSG8	440533	broad.mit.edu	37	chr19	43268170	43268170	+	Missense_Mutation	SNP	G	G	T																															gtcttcctgggtgacattctGgatcagcagggatgcattgg																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:43268170G>T	ENST00000404209.4	-	2	424	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	PSG8_ENST00000306511.4_Missense_Mutation_p.Q110K|PSG8_ENST00000401467.2_Missense_Mutation_p.Q110K|PSG8_ENST00000406636.3_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	110	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTGACATTCTGGATCAGCAGG	0.413													318	602					2.17704e-151	3.33968e-151	1	0	T	43268170	G	T	43268170	3	4	46	1	0	0	0	0	1	0	0	0	12740	1357	47	4	989	4	PSG8	19	43268170	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	2537531	43268170	15860813	291	8843	80	2									
PSG8	440533	broad.mit.edu	37	chr19	43268171	43268171	+	Silent	SNP	G	G	T																															tcttcctgggtgacattctgGatcagcagggatgcattgga																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:43268171G>T	ENST00000404209.4	-	2	423	c.327C>A	c.(325-327)atC>atA	p.I109I	PSG8_ENST00000306511.4_Silent_p.I109I|PSG8_ENST00000401467.2_Silent_p.I109I|PSG8_ENST00000406636.3_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	109	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGACATTCTGGATCAGCAGGG	0.413													327	602					8.87606e-151	1.35677e-150	1	0	T	43268171	G	T	43268171	2	4	46	1	0	0	0	0	0	0	0	1	12740	1164	41	2		2	PSG8	19	43268171	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	1	43268171	15860812	292	8844	80	2									
PLA2G4C	8605	broad.mit.edu	37	chr19	48608658	48608658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttcgtctctccacggccgCcttttcttctttctggagcc	2	16	7	16	3	5	0	0	0	5	0	8	1	6	1	4	2	1	0	4	2	0	5			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:48608658C>T	ENST00000354276.3	-	3	379	c.52G>A	c.(52-54)Gcg>Acg	p.A18T	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.A18T|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A28T|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A18T	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	18	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCCACGGCCGCCTTTTCTTCT	0.483													137	212					0	0	0	0	T	48608658	C	T	48608658	3	4	46	1	0	0	0	0	1	0	0	0	12075	739	26	4	1637	4	PLA2G4C	19	48608658	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	5340487	48608658	10520325	293	8845											
CPT1C	126129	broad.mit.edu	37	chr19	50216783	50216783	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagagggtcagggaaggAgaactccaggcacaggtgtg	11	6	17	7	0	2	2	2	0	0	2	3	4	3	3	1	5	1	2	1	5	2	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:50216783A>T	ENST00000392518.4	+	20	2705	c.2333A>T	c.(2332-2334)gAg>gTg	p.E778V	CPT1C_ENST00000598293.1_Missense_Mutation_p.E778V|CPT1C_ENST00000405931.2_Missense_Mutation_p.E767V|CPT1C_ENST00000354199.5_Missense_Mutation_p.E689V|CPT1C_ENST00000323446.5_Missense_Mutation_p.E778V	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	778					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TCAGGGAAGGAGAACTCCAGG	0.607													234	174					0	0	0	0	T	50216783	A	T	50216783	3	4	46	1	0	0	0	0	1	0	0	0	3863	304	11	5	2403	5	CPT1C	19	50216783	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	1608125	50216783	8912200	294	8846											
POLD1	5424	broad.mit.edu	37	chr19	50921181	50921181	+	Frame_Shift_Del	DEL	C	C	-																															agctcctgcggcgcttcggaCcccctggacctgaggcctgg																								rs142223599		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:50921181delC	ENST00000440232.2	+	27	3354	c.3301delC	c.(3301-3303)ccfs	p.P1102fs	POLD1_ENST00000599857.1_Frame_Shift_Del_p.P1102fs|POLD1_ENST00000595904.1_Frame_Shift_Del_p.P1128fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	1102					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCGCTTCGGACCCCCTGGACC	0.617								DNA polymerases (catalytic subunits)					13	86	---	---	---	---					-	50921181	C	-	50921181	7	5	46	1	0	1	0	1	0	0	0	0	12262	507	18	0	3403	0	POLD1	19	50921181	Frame_Shift_Del	DEL	C	TCGA-BB-7870-01A-11D-2229-08	704398	50921181	8207802	295	8847											
MYBPC2	4606	broad.mit.edu	37	chr19	50963374	50963374	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagtggcaggcccccAaagatgatgggaacagtgag	11	6	17	7	0	0	3	0	2	0	1	0	5	0	5	2	5	1	1	2	5	2	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:50963374A>C	ENST00000357701.5	+	24	2920	c.2869A>C	c.(2869-2871)Aaa>Caa	p.K957Q		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	957	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCAGGCCCCCAAAGATGATGG	0.552													4	19					0	0	0	0	C	50963374	A	C	50963374	3	2	46	1	0	0	0	0	1	0	0	0	10082	131	5	5	2963	5	MYBPC2	19	50963374	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	42193	50963374	8165609	296	8848											
ZNF808	388558	broad.mit.edu	37	chr19	53058525	53058525	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tataccatcgtagacttcatActggagagaaatcttacaaa	16	11	6	8	1	2	2	1	0	1	2	3	4	2	3	1	1	3	1	1	1	7	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:53058525A>G	ENST00000359798.4	+	5	2536	c.2356A>G	c.(2356-2358)Act>Gct	p.T786A		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TAGACTTCATACTGGAGAGAA	0.423													410	287					0	0	0	0	G	53058525	A	G	53058525	3	3	46	1	0	0	0	0	1	0	0	0	18266	391	14	5	2366	5	ZNF808	19	53058525	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	2095151	53058525	6070458	297	8849											
LILRB2	10288	broad.mit.edu	37	chr19	54778552	54778552	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgggctagtggatggccagGgtggcgtagatgctgggctc	5	8	19	9	2	0	1	0	0	0	1	1	2	0	2	2	6	1	4	2	6	2	2	rs144888744	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:54778552G>A	ENST00000391748.1	-	14	1906	c.1779C>T	c.(1777-1779)acC>acT	p.T593T	LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391749.4_Silent_p.T594T|LILRB2_ENST00000314446.5_Silent_p.T593T|LILRB2_ENST00000434421.1_Silent_p.T478T	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	594					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGATGGCCAGGGTGGCGTAGA	0.617													8	110					0	0	0	0	A	54778552	G	A	54778552	2	1	46	1	0	0	0	0	0	0	0	1	8845	1219	43	4		4	LILRB2	19	54778552	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	1720027	54778552	4350431	298	8850											
PEG3	5178	broad.mit.edu	37	chr19	57326605	57326605	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgggtctcctccccatCagtattctcgccttgagact	5	13	9	14	1	3	1	1	1	2	1	6	2	4	1	4	1	0	2	4	1	1	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:57326605C>A	ENST00000326441.9	-	10	3568	c.3205G>T	c.(3205-3207)Gat>Tat	p.D1069Y	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1069Y|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D945Y|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D943Y|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1069					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCTCCCCATCAGTATTCTCG	0.498													36	289					1.69901e-12	1.91867e-12	1	0	A	57326605	C	A	57326605	3	1	46	1	0	0	0	0	1	0	0	0	11791	826	29	2	1565	2	PEG3	19	57326605	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	2548053	57326605	1802378	299	8851											
USP29	57663	broad.mit.edu	37	chr19	57640564	57640564	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggcaaaacacactatCatctgatgtacagacaaatg	17	7	9	8	0	2	2	1	1	1	1	2	3	2	2	0	2	2	2	0	2	6	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:57640564C>A	ENST00000254181.4	+	4	975	c.521C>A	c.(520-522)tCa>tAa	p.S174*	USP29_ENST00000598197.1_Nonsense_Mutation_p.S174*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	174					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACACACTATCATCTGATGTA	0.363													28	235					3.73808e-20	4.66443e-20	1	0	A	57640564	C	A	57640564	4	1	46	1	0	0	0	0	0	1	0	0	17155	838	29	2	523	2	USP29	19	57640564	Nonsense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	313959	57640564	1488419	300	8852											
AURKC	6795	broad.mit.edu	37	chr19	57744012	57744012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctctacaaggagctgcaGaaaagcgagaaattagatga	17	6	12	6	1	1	4	0	1	1	3	1	7	1	5	0	1	5	3	0	1	6	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:57744012G>T	ENST00000302804.7	+	4	585	c.399G>T	c.(397-399)caG>caT	p.Q133H	AURKC_ENST00000599062.1_Missense_Mutation_p.Q130H|AURKC_ENST00000448930.1_Missense_Mutation_p.Q99H|AURKC_ENST00000598785.1_Missense_Mutation_p.Q99H|AURKC_ENST00000415300.2_Missense_Mutation_p.Q114H	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	133	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AGGAGCTGCAGAAAAGCGAGA	0.537													167	123					3.57155e-81	5.40149e-81	1	0	T	57744012	G	T	57744012	3	4	46	1	0	0	0	0	1	0	0	0	1228	933	33	2	418	2	AURKC	19	57744012	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	103448	57744012	1384971	301	8853											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673573	3673573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcgggcagagcagctgtaGaaaccctcatccctgggctg	8	7	13	13	1	1	2	1	0	0	2	2	2	2	2	2	2	4	5	2	2	2	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:3673573G>C	ENST00000344754.4	-	14	3713	c.3714C>G	c.(3712-3714)ttC>ttG	p.F1238L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.F1238L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1238	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCAGCTGTAGAAACCCTCAT	0.682													33	84					0	0	0	0	C	3673573	G	C	3673573	3	2	46	1	0	0	0	0	1	0	0	0	14393	933	33	2	1447	2	SIGLEC1	20	3673573	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08		3673573	59351947	302	8854											
CD93	22918	broad.mit.edu	37	chr20	23065301	23065301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggtgggtgtagccttgGgggtgccctcggggcccctt	1	12	18	10	1	0	0	0	0	0	0	1	0	0	0	4	6	2	1	4	6	1	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:23065301G>A	ENST00000246006.4	-	1	1676	c.1529C>T	c.(1528-1530)cCc>cTc	p.P510L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	510					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.P510H(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGTAGCCTTGGGGGTGCCCTC	0.647													57	184					0	0	0	0	A	23065301	G	A	23065301	3	1	46	1	0	0	0	0	1	0	0	0	3076	1232	43	4	437	4	CD93	20	23065301	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	19391728	23065301	39960219	303	8855											
DNMT3B	1789	broad.mit.edu	37	chr20	31374396	31374396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccggcagggccgcaaccAtgtggacgagtcccccgtgg	7	4	16	14	4	0	0	0	0	0	0	1	2	1	1	5	5	1	2	5	5	1	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:31374396A>G	ENST00000328111.2	+	5	716	c.395A>G	c.(394-396)cAt>cGt	p.H132R	DNMT3B_ENST00000353855.2_Missense_Mutation_p.H132R|DNMT3B_ENST00000348286.2_Missense_Mutation_p.H132R|DNMT3B_ENST00000344505.4_Missense_Mutation_p.H132R|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000201963.3_Missense_Mutation_p.H144R|DNMT3B_ENST00000456297.2_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	132	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCCGCAACCATGTGGACGAG	0.617													62	151					0	0	0	0	G	31374396	A	G	31374396	3	3	46	1	0	0	0	0	1	0	0	0	4713	217	8	5	449	5	DNMT3B	20	31374396	Missense_Mutation	SNP	A	TCGA-BB-7870-01A-11D-2229-08	8309095	31374396	31651124	304	8856											
SAMHD1	25939	broad.mit.edu	37	chr20	35526865	35526865	+	Missense_Mutation	SNP	G	G	T																															ggtttttagtaatcctgattGctctgttgggggcagtctta																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:35526865G>T	ENST00000262878.4	-	14	1785	c.1586C>A	c.(1585-1587)gCa>gAa	p.A529E		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	529					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATCCTGATTGCTCTGTTGGG	0.318													47	75					2.74695e-27	3.56271e-27	1	0	T	35526865	G	T	35526865	3	4	46	1	0	0	0	0	1	0	0	0	13913	1319	46	4	306	4	SAMHD1	20	35526865	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	4152469	35526865	27498655	305	8857	81	2									
SAMHD1	25939	broad.mit.edu	37	chr20	35526866	35526866	+	Missense_Mutation	SNP	C	C	T																															gtttttagtaatcctgattgCtctgttgggggcagtcttac																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:35526866C>T	ENST00000262878.4	-	14	1784	c.1585G>A	c.(1585-1587)Gca>Aca	p.A529T		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	529					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATCCTGATTGCTCTGTTGGGG	0.323													48	77					0	0	0	0	T	35526866	C	T	35526866	3	4	46	1	0	0	0	0	1	0	0	0	13913	797	28	4	307	4	SAMHD1	20	35526866	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	1	35526866	27498654	306	8858	81	2									
ADA	100	broad.mit.edu	37	chr20	43251533	43251533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttccagggtgtggtaGccgtgtcccagccgctctgt	3	12	14	12	2	2	0	0	0	2	0	4	0	4	0	4	3	2	2	4	3	1	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:43251533G>A	ENST00000372874.4	-	8	851	c.717C>T	c.(715-717)ggC>ggT	p.G239G	ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron|ADA_ENST00000537820.1_Silent_p.G215G	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	239					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	GGGTGTGGTAGCCGTGTCCCA	0.592									Adenosine Deaminase Deficiency				101	218					0	0	0	0	A	43251533	G	A	43251533	2	1	46	1	0	0	0	0	0	0	0	1	230	958	34	4		4	ADA	20	43251533	Silent	SNP	G	TCGA-BB-7870-01A-11D-2229-08	7724667	43251533	19773987	307	8859											
KCNK15	60598	broad.mit.edu	37	chr20	43379255	43379255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgccgactggcccgagcgcGctgcccgcacccccagcccg	4	2	13	22	7	0	0	0	0	0	0	0	2	0	0	6	1	3	2	6	1	0	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:43379255G>T	ENST00000372861.3	+	2	900	c.769G>T	c.(769-771)Gct>Tct	p.A257S		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	257						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.A257S(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GCCCGAGCGCGCTGCCCGCAC	0.746													23	45					7.41877e-09	7.91829e-09	1	0	T	43379255	G	T	43379255	3	4	46	1	0	0	0	0	1	0	0	0	8115	1087	38	3	775	3	KCNK15	20	43379255	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	127722	43379255	19646265	308	8860											
PTGIS	5740	broad.mit.edu	37	chr20	48127716	48127716	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatcggttgtatttaaataCctgaaataggaagaaggtcc	15	11	10	5	1	0	2	0	1	0	1	2	4	1	3	2	3	1	2	2	3	9	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:48127716C>T	ENST00000244043.4	-	9	1236	c.1206_splice	c.e9-1	p.V403_splice	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	403					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TATTTAAATACCTGAAATAGG	0.433													32	59					0	0	0	0	T	48127716	C	T	48127716	5	4	46	1	0	0	0	0	0	0	1	0	12832	521	18	4	303	4	PTGIS	20	48127716	Splice_Site	SNP	C	TCGA-BB-7870-01A-11D-2229-08	4748461	48127716	14897804	309	8861											
ZNF512B	57473	broad.mit.edu	37	chr20	62598358	62598358	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtcgttcatcagggagagCtaggcgtggggaaaggtggt	9	8	18	6	2	2	1	2	0	0	1	3	3	2	2	0	6	1	2	0	6	2	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:62598358C>A	ENST00000450537.1	-	4	325		c.e4-1		ZNF512B_ENST00000217130.3_Splice_Site|ZNF512B_ENST00000369888.1_Splice_Site			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCAGGGAGAGCTAGGCGTGGG	0.647													60	85					2.19297e-23	2.76056e-23	1	0	A	62598358	C	A	62598358	5	1	46	1	0	0	0	0	0	0	1	0	18052	811	28	4	2470	4	ZNF512B	20	62598358	Splice_Site	SNP	C	TCGA-BB-7870-01A-11D-2229-08	14470642	62598358	427162	310	8862											
TPTE	7179	broad.mit.edu	37	chr21	10933853	10933853	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggaaaatgttattaccTgtgcctcctttacagtgaat	14	13	7	7	0	0	1	0	1	0	0	1	2	1	2	3	1	3	1	3	1	8	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr21:10933853T>A	ENST00000298232.7	-	16	1339	c.973_splice	c.e16+1	p.T324_splice	TPTE_ENST00000342420.5_Splice_Site_p.T304_splice|TPTE_ENST00000361285.4_Splice_Site_p.T342_splice|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	342	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTTATTACCTGTGCCTCCTT	0.323													64	292					0	0	0	0	A	10933853	T	A	10933853	5	1	46	1	0	0	0	0	0	0	1	0	16525	1594	55	5	661	5	TPTE	21	10933853	Splice_Site	SNP	T	TCGA-BB-7870-01A-11D-2229-08		10933853	37196042	311	8863											
BAGE2	85319	broad.mit.edu	37	chr21	11039008	11039008	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctccttggtatgaaacAtctttcacacaaccctcaat	11	13	4	13	0	3	1	2	1	1	0	4	1	4	1	3	1	3	1	3	1	4	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr21:11039008A>G	ENST00000470054.1	-	0	1195									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGTATGAAACATCTTTCACAC	0.393													45	677					0	0	0	0	G	11039008	A	G	11039008	1	3	46	0	1	0	0	0	0	0	0	0	1296	232	8	5		5	BAGE2	21	11039008	RNA	SNP	A	TCGA-BB-7870-01A-11D-2229-08	105155	11039008	37090887	312	8864											
USP25	29761	broad.mit.edu	37	chr21	17197371	17197371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcacggtattacaacaaaGgctagaaaggtattttaact	15	11	7	8	1	1	1	1	0	0	1	1	1	1	1	1	3	3	3	1	3	8	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr21:17197371G>T	ENST00000285681.2	+	12	1664	c.1295G>T	c.(1294-1296)aGg>aTg	p.R432M	USP25_ENST00000400183.2_Missense_Mutation_p.R432M|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.R432M			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	432					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTACAACAAAGGCTAGAAAGG	0.308													10	81					0.000673444	0.000684641	1	0	T	17197371	G	T	17197371	3	4	46	1	0	0	0	0	1	0	0	0	17152	1000	35	4	1341	4	USP25	21	17197371	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	6158363	17197371	30932524	313	8865											
PRDM15	63977	broad.mit.edu	37	chr21	43221560	43221560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagctggctccccaggggcGtgatggagttgaccagggtc	7	8	16	10	1	0	2	0	2	0	0	2	3	1	3	3	5	1	3	3	5	1	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr21:43221560G>A	ENST00000422911.1	-	25	3538	c.3437C>T	c.(3436-3438)aCg>aTg	p.T1146M	PRDM15_ENST00000447207.2_Missense_Mutation_p.T1089M|PRDM15_ENST00000538201.1_Missense_Mutation_p.T1109M|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.T1126M|PRDM15_ENST00000269844.3_Missense_Mutation_p.T1455M			P57071	PRD15_HUMAN	PR domain containing 15	1455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCCCAGGGGCGTGATGGAGTT	0.642													44	195					0	0	0	0	A	43221560	G	A	43221560	3	1	46	1	0	0	0	0	1	0	0	0	12536	1145	40	1	163	1	PRDM15	21	43221560	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	26024189	43221560	4908335	314	8866											
MN1	4330	broad.mit.edu	37	chr22	28196205	28196205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccaaagtgggggtgatgCtggtggggatgatgacttcc	7	9	16	9	0	0	3	0	3	0	0	1	4	1	4	3	5	1	1	3	5	1	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:28196205C>A	ENST00000302326.4	-	1	1281	c.327G>T	c.(325-327)caG>caT	p.Q109H		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	109							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GGGGGTGATGCTGGTGGGGAT	0.721			T	ETV6	"AML, meningioma"								7	66					5.18039e-06	5.39467e-06	1	0	A	28196205	C	A	28196205	3	1	46	1	0	0	0	0	1	0	0	0	9743	796	28	4	3643	4	MN1	22	28196205	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08		28196205	23108361	315	8867											
CACNA1I	8911	broad.mit.edu	37	chr22	40075138	40075138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgggactgcacccacgaCgagcgcagctgcctgagcag	8	4	14	15	4	0	1	0	1	0	0	0	4	0	2	2	1	6	4	2	1	0	0			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:40075138C>T	ENST00000336649.4	+	35	5100	c.5100C>T	c.(5098-5100)gaC>gaT	p.D1700D	CACNA1I_ENST00000402142.3_Silent_p.D1694D|CACNA1I_ENST00000400164.3_Silent_p.D1659D|CACNA1I_ENST00000401624.1_Silent_p.D1694D|CACNA1I_ENST00000407673.1_Silent_p.D1659D|CACNA1I_ENST00000404898.1_Silent_p.D1659D			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1694					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCACCCACGACGAGCGCAGCT	0.657													5	34					0	0	0	0	T	40075138	C	T	40075138	2	4	46	1	0	0	0	0	0	0	0	1	2571	535	19	1		1	CACNA1I	22	40075138	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	11878933	40075138	11229428	316	8868											
EP300	2033	broad.mit.edu	37	chr22	41566476	41566478	+	In_Frame_Del	DEL	TCC	TCC	-																															gattatatcttccattgccaTcctcctgaccagaagatacc																										TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:41566476_41566478delTCC	ENST00000263253.7	+	27	5572_5574	c.4353_4355delTCC	c.(4351-4356)cat>ca	p.HP1451del	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1451					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.P1452H(1)|p.P1452L(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCCATTGCCATCCTCCTGACCAG	0.429			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				109	144	---	---	---	---					-	41566478	TCC	-	41566476	7	5	46	1	0	1	0	1	0	0	0	0	5186	1432	50	0	4459	0	EP300	22	41566476	In_Frame_Del	DEL	TCC	TCGA-BB-7870-01A-11D-2229-08	1491338	41566476	9738090	317	8869											
ARX	170302	broad.mit.edu	37	chrX	25028384	25028384	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgtgcagctcacctggactCgggcctcggtcaagtccagc	6	9	12	14	2	2	0	2	0	0	0	5	1	3	1	3	3	3	2	3	3	1	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:25028384C>G	ENST00000379044.4	-	3	1322	c.1112G>C	c.(1111-1113)cGa>cCa	p.R371P		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	371						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CACCTGGACTCGGGCCTCGGT	0.632													32	11					0	0	0	0	G	25028384	C	G	25028384	3	3	46	1	0	0	0	0	1	0	0	0	1008	884	31	3	588	3	ARX	23	25028384	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08		25028384	130242176	318	8870											
FAM47C	442444	broad.mit.edu	37	chrX	37027442	37027442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgtatctcatctccgccCagagccttctgagactggag	8	9	10	14	3	3	2	1	1	3	2	5	4	3	3	3	1	1	1	3	1	1	2			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:37027442C>T	ENST00000358047.3	+	1	1011	c.959C>T	c.(958-960)cCa>cTa	p.P320L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	320										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CATCTCCGCCCAGAGCCTTCT	0.602													142	43					0	0	0	0	T	37027442	C	T	37027442	3	4	46	1	0	0	0	0	1	0	0	0	5618	594	21	4	961	4	FAM47C	23	37027442	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	11999058	37027442	118243118	319	8871											
PRRG1	5638	broad.mit.edu	37	chrX	37265460	37265460	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtgctctgttttgtacAgggaatcatcatccagggac	9	13	11	8	0	3	0	2	0	1	0	4	2	4	2	1	2	2	4	1	2	3	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:37265460A>C	ENST00000542554.1	+	3	231		c.e3-1		PRRG1_ENST00000378628.4_Splice_Site|PRRG1_ENST00000463135.1_Splice_Site|TM4SF2_ENST00000465127.1_Splice_Site|PRRG1_ENST00000491253.1_Splice_Site|PRRG1_ENST00000449135.2_Splice_Site|PRRG1_ENST00000543642.1_Splice_Site	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1							extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TGTTTTGTACAGGGAATCATC	0.438													62	19					0	0	0	0	C	37265460	A	C	37265460	5	2	46	1	0	0	0	0	0	0	1	0	12684	202	7	5		5	PRRG1	23	37265460	Splice_Site	SNP	A	TCGA-BB-7870-01A-11D-2229-08	238018	37265460	118005100	320	8872											
ZXDB	158586	broad.mit.edu	37	chrX	57618966	57618966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatctccgcccccggccccgCcgcggccttcgcgggcacag	3	4	13	21	7	1	0	0	0	1	0	3	1	1	0	7	3	0	1	7	3	0	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:57618966C>T	ENST00000374888.1	+	1	698	c.485C>T	c.(484-486)gCc>gTc	p.A162V		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						cccggccccgccgcggccttc	0.741													13	3					0	0	0	0	T	57618966	C	T	57618966	3	4	46	1	0	0	0	0	1	0	0	0	18342	739	26	4	487	4	ZXDB	23	57618966	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	20353506	57618966	97651594	321	8873											
KIAA2022	340533	broad.mit.edu	37	chrX	73962996	73962996	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagctgccagaattagtgtCccgagccatatagcgactac	11	8	11	11	2	0	1	0	0	0	1	1	4	1	2	3	1	5	1	3	1	5	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:73962996C>A	ENST00000373468.1	-	3	2047	c.1396G>T	c.(1396-1398)Gac>Tac	p.D466Y	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D466Y			Q5QGS0	K2022_HUMAN	KIAA2022	466					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAATTAGTGTCCCGAGCCATA	0.453													58	14					9.72345e-25	1.24228e-24	1	0	A	73962996	C	A	73962996	3	1	46	1	0	0	0	0	1	0	0	0	8320	855	30	2	3162	2	KIAA2022	23	73962996	Missense_Mutation	SNP	C	TCGA-BB-7870-01A-11D-2229-08	16344030	73962996	81307564	322	8874											
ITM2A	9452	broad.mit.edu	37	chrX	78616959	78616959	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgaaccacataagtttgAggcagatatctgccactcta	12	11	7	11	1	3	2	0	1	3	1	4	3	3	2	2	1	2	2	2	1	4	4			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:78616959A>C	ENST00000434584.2	-	4	774	c.438T>G	c.(436-438)ccT>ccG	p.P146P	ITM2A_ENST00000373298.2_Silent_p.P190P|ITM2A_ENST00000469541.1_5'UTR	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	190	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CATAAGTTTGAGGCAGATATC	0.348													24	40					0	0	0	0	C	78616959	A	C	78616959	2	2	46	1	0	0	0	0	0	0	0	1	7965	291	11	5		5	ITM2A	23	78616959	Silent	SNP	A	TCGA-BB-7870-01A-11D-2229-08	4653963	78616959	76653601	323	8875											
CUL4B	8450	broad.mit.edu	37	chrX	119672603	119672603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctaaatctttcttataGaaggcctcaaaaacatcctt	13	14	5	9	0	3	1	1	0	2	1	4	1	4	1	2	2	1	1	2	2	7	6			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:119672603G>T	ENST00000371322.5	-	13	1825	c.1764C>A	c.(1762-1764)ttC>ttA	p.F588L	CUL4B_ENST00000336592.6_Missense_Mutation_p.F593L|CUL4B_ENST00000404115.3_Missense_Mutation_p.F606L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	606					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTTCTTATAGAAGGCCTCAA	0.333													80	24					2.09386e-48	2.96746e-48	1	0	T	119672603	G	T	119672603	3	4	46	1	0	0	0	0	1	0	0	0	4090	933	33	2	955	2	CUL4B	23	119672603	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08	41055644	119672603	35597957	324	8876											
MAGEC3	139081	broad.mit.edu	37	chrX	140985531	140985531	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagatatggaagacagagcCcaggccataattgacaccac	17	5	9	10	0	0	4	0	1	0	3	0	5	0	5	3	2	1	0	3	2	4	3			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:140985531C>A	ENST00000298296.1	+	8	1845	c.1845C>A	c.(1843-1845)gcC>gcA	p.A615A	MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	615	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAGACAGAGCCCAGGCCATAA	0.473													93	24					7.69131e-47	1.08286e-46	1	0	A	140985531	C	A	140985531	2	1	46	1	0	0	0	0	0	0	0	1	9251	610	22	4		4	MAGEC3	23	140985531	Silent	SNP	C	TCGA-BB-7870-01A-11D-2229-08	21312928	140985531	14285029	325	8877											
DDX3Y	8653	broad.mit.edu	37	chrY	15029413	15029413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggaagcagcagccgcaGtggtggaggtggttacggca	8	6	18	9	4	0	0	0	0	0	0	1	2	0	2	1	6	4	5	1	6	2	1			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrY:15029413G>C	ENST00000336079.3	+	16	1968	c.1862G>C	c.(1861-1863)aGt>aCt	p.S621T	DDX3Y_ENST00000360160.4_Missense_Mutation_p.S621T	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	621						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						AGCAGCCGCAGTGGTGGAGGT	0.433													2	8					0	0	0	0	C	15029413	G	C	15029413	3	2	46	1	0	0	0	0	1	0	0	0	4391	1029	36	4	1924	4	DDX3Y	24	15029413	Missense_Mutation	SNP	G	TCGA-BB-7870-01A-11D-2229-08		15029413	44344153	326	8878											
AJAP1	55966	broad.mit.edu	37	chr1	4772664	4772664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccttggatccccggagaaGgatcccaggtggggttagca	8	8	15	10	1	0	1	0	0	0	1	3	4	3	3	4	6	1	2	4	6	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:4772664G>T	ENST00000378191.4	+	2	1115	c.734G>T	c.(733-735)aGg>aTg	p.R245M	AJAP1_ENST00000378190.3_Missense_Mutation_p.R245M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	245					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCCCGGAGAAGGATCCCAGGT	0.632													28	39					4.22769e-11	5.18929e-11	1	0	T	4772664	G	T	4772664	3	4	47	1	0	0	0	0	1	0	0	0	438	1000	35	4	740	4	AJAP1	1	4772664	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08		4772664	244477957	1	8879											
CHD5	26038	broad.mit.edu	37	chr1	6196851	6196851	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggcccactcgatggaGcccaggatggcctggtcaat	9	6	14	12	1	1	0	1	0	0	0	2	3	1	2	3	6	1	1	3	6	1	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:6196851G>A	ENST00000262450.3	-	16	2610	c.2511C>T	c.(2509-2511)ggC>ggT	p.G837G	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	837	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTCGATGGAGCCCAGGATGG	0.587													17	30					0	0	0	0	A	6196851	G	A	6196851	2	1	47	1	0	0	0	0	0	0	0	1	3357	958	34	4		4	CHD5	1	6196851	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1424187	6196851	243053770	2	8880											
PTCHD2	57540	broad.mit.edu	37	chr1	11579548	11579548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatccccttgctggaggtcGaggaagagccaggtgagagc	10	6	15	10	1	0	2	0	1	0	2	2	6	1	4	3	4	3	1	3	4	1	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:11579548G>A	ENST00000294484.6	+	8	2164	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	PTCHD2_ENST00000389575.3_Missense_Mutation_p.E676K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	676					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCTGGAGGTCGAGGAAGAGCC	0.632													65	111					0	0	0	0	A	11579548	G	A	11579548	3	1	47	1	0	0	0	0	1	0	0	0	12812	1059	37	1	2052	1	PTCHD2	1	11579548	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	5382697	11579548	237671073	3	8881											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907549	12907549	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattttttccaggttttcCaggagagaatccactttctg	9	16	7	9	0	2	1	1	0	1	1	5	3	5	2	3	2	0	1	3	2	2	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:12907549C>A	ENST00000317869.6	-	2	819	c.594G>T	c.(592-594)ctG>ctT	p.L198L		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CCAGGTTTTCCAGGAGAGAAT	0.438													49	55					8.99859e-20	1.22726e-19	1	0	A	12907549	C	A	12907549	2	1	47	1	0	0	0	0	0	0	0	1	7313	581	21	4		4	HNRNPCL1	1	12907549	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1328001	12907549	236343072	4	8882											
FUCA1	2517	broad.mit.edu	37	chr1	24180881	24180881	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagattcttctgtaacatcaGacaatgccatgtcacgacga	13	10	7	11	2	4	2	2	0	2	2	4	4	4	2	1	0	2	1	1	0	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:24180881G>C	ENST00000374479.3	-	5	945	c.938C>G	c.(937-939)tCt>tGt	p.S313C		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	313					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		TGTAACATCAGACAATGCCAT	0.368													18	44					0	0	0	0	C	24180881	G	C	24180881	3	2	47	1	0	0	0	0	1	0	0	0	6142	942	33	2	478	2	FUCA1	1	24180881	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	11273332	24180881	225069740	5	8883											
C1orf63	57035	broad.mit.edu	37	chr1	25571721	25571721	+	Missense_Mutation	SNP	G	G	T																															aacagttctgagactagctgGcaagtcaatgttggttgttc																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:25571721G>T	ENST00000243189.7	-	3	868	c.592C>A	c.(592-594)Cca>Aca	p.P198T	C1orf63_ENST00000417642.2_Missense_Mutation_p.P191T|C1orf63_ENST00000431849.2_Missense_Mutation_p.P198T	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	198										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGACTAGCTGGCAAGTCAATG	0.388													17	33					0.000422831	0.00044042	1	0	T	25571721	G	T	25571721	3	4	47	1	0	0	0	0	1	0	0	0	2073	1203	42	4	292	4	C1orf63	1	25571721	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1390840	25571721	223678900	6	8884	82	2									
C1orf63	57035	broad.mit.edu	37	chr1	25571722	25571722	+	Silent	SNP	C	C	T																															acagttctgagactagctggCaagtcaatgttggttgttcc																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:25571722C>T	ENST00000243189.7	-	3	867	c.591G>A	c.(589-591)ttG>ttA	p.L197L	C1orf63_ENST00000417642.2_Silent_p.L190L|C1orf63_ENST00000431849.2_Silent_p.L197L	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	197										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GACTAGCTGGCAAGTCAATGT	0.383													18	33					0	0	0	0	T	25571722	C	T	25571722	2	4	47	1	0	0	0	0	0	0	0	1	2073	709	25	4		4	C1orf63	1	25571722	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1	25571722	223678899	7	8885	82	2									
KIAA1522	57648	broad.mit.edu	37	chr1	33236191	33236191	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgggggcagcactgctGaggcctcagacacactcagc	9	5	13	14	0	2	2	2	1	0	1	2	2	2	2	2	3	3	3	2	3	0	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:33236191G>T	ENST00000401073.2	+	6	1481	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*	KIAA1522_ENST00000373480.1_Nonsense_Mutation_p.E412*|KIAA1522_ENST00000373481.3_Nonsense_Mutation_p.E423*|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	412	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGCACTGCTGAGGCCTCAGA	0.672													10	78					4.68919e-08	5.35663e-08	1	0	T	33236191	G	T	33236191	4	4	47	1	0	0	0	0	0	1	0	0	8289	1291	45	2	1433	2	KIAA1522	1	33236191	Nonsense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	7664469	33236191	216014430	8	8886											
KIAA1522	57648	broad.mit.edu	37	chr1	33236814	33236814	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccacctccctccaagcccagGagccctaacccagctgcccc	8	4	6	23	0	0	0	0	0	0	0	2	1	2	1	9	1	5	1	9	1	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:33236814G>A	ENST00000401073.2	+	6	2104	c.2034G>A	c.(2032-2034)agG>agA	p.R678R	KIAA1522_ENST00000373480.1_Silent_p.R619R|KIAA1522_ENST00000373481.3_Silent_p.R630R|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	619	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAAGCCCAGGAGCCCTAACC	0.642													29	256					0	0	0	0	A	33236814	G	A	33236814	2	1	47	1	0	0	0	0	0	0	0	1	8289	1165	41	2		2	KIAA1522	1	33236814	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	623	33236814	216013807	9	8887											
CSMD2	114784	broad.mit.edu	37	chr1	34123661	34123661	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggaacactgtggagtcGccggcttcccaactgtcacc	8	8	10	15	2	1	0	1	0	0	0	3	2	2	2	3	3	2	1	3	3	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:34123661G>T	ENST00000373381.4	-	27	4508	c.4332C>A	c.(4330-4332)ggC>ggA	p.G1444G	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.G317G	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1404						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGTGGAGTCGCCGGCTTCCC	0.582													32	234					1.88708e-17	2.5081e-17	1	0	T	34123661	G	T	34123661	2	4	47	1	0	0	0	0	0	0	0	1	3977	1074	38	3		3	CSMD2	1	34123661	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	886847	34123661	215126960	10	8888											
NCDN	23154	broad.mit.edu	37	chr1	36026449	36026449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaggatttccagaaagctGaggatgccagcaagtttgag	12	9	14	6	0	0	4	0	3	0	1	1	6	1	6	2	2	3	3	2	2	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:36026449G>A	ENST00000373243.2	+	3	1080	c.697G>A	c.(697-699)Gag>Aag	p.E233K	NCDN_ENST00000373253.3_Missense_Mutation_p.E216K|NCDN_ENST00000356090.4_Missense_Mutation_p.E233K	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	233					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCAGAAAGCTGAGGATGCCAG	0.652													6	76					0	0	0	0	A	36026449	G	A	36026449	3	1	47	1	0	0	0	0	1	0	0	0	10284	1291	45	2	707	2	NCDN	1	36026449	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1902788	36026449	213224172	11	8889											
THRAP3	9967	broad.mit.edu	37	chr1	36752628	36752628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggcggcggtcaccccGtcctagccccgtgccaaaac	7	5	13	16	4	1	1	1	1	0	0	2	1	2	1	6	4	3	0	6	4	3	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:36752628G>T	ENST00000354618.5	+	4	1021	c.797G>T	c.(796-798)cGt>cTt	p.R266L	THRAP3_ENST00000469141.2_Missense_Mutation_p.R266L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	266	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGTCACCCCGTCCTAGCCCC	0.617			T	USP6	aneurysmal bone cysts								31	100					2.61193e-14	3.33688e-14	1	0	T	36752628	G	T	36752628	3	4	47	1	0	0	0	0	1	0	0	0	15968	1145	40	3	803	3	THRAP3	1	36752628	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	726179	36752628	212497993	12	8890											
EPHA10	284656	broad.mit.edu	37	chr1	38227327	38227327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagacgcgcaccgagacaagCgccacgcatgcgcccacgtc	10	3	11	17	7	0	2	0	0	0	2	1	3	0	2	3	0	2	2	3	0	2	1	rs143310845		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:38227327C>T	ENST00000373048.4	-	3	599	c.600G>A	c.(598-600)gcG>gcA	p.A200A	EPHA10_ENST00000427468.2_Silent_p.A200A|EPHA10_ENST00000319637.6_Silent_p.A200A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	200						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)				CCGAGACAAGCGCCACGCATG	0.672													28	54					0	0	0	0	T	38227327	C	T	38227327	2	4	47	1	0	0	0	0	0	0	0	1	5204	755	27	1		1	EPHA10	1	38227327	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1474699	38227327	211023294	13	8891											
AKIRIN1	79647	broad.mit.edu	37	chr1	39463964	39463964	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacctcactcctcagcactCacagcacctagctctccagg	10	7	5	19	0	4	0	3	0	1	0	6	0	5	0	4	1	4	3	4	1	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:39463964C>G	ENST00000432648.3	+	2	500	c.342C>G	c.(340-342)ctC>ctG	p.L114L	AKIRIN1_ENST00000372984.4_Intron|AKIRIN1_ENST00000446189.2_Silent_p.L114L	NM_024595.2	NP_078871.1	Q9H9L7	AKIR1_HUMAN	akirin 1	114						nucleus				lung(1)|prostate(1)|skin(1)	3						CCTCAGCACTCACAGCACCTA	0.408													17	29					0	0	0	0	G	39463964	C	G	39463964	2	3	47	1	0	0	0	0	0	0	0	1	461	813	29	2		2	AKIRIN1	1	39463964	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1236637	39463964	209786657	14	8892											
MACF1	23499	broad.mit.edu	37	chr1	39901344	39901344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggtggaagaaaaatacCagaaagcagaaaacatgtat	22	6	9	4	0	0	3	0	0	0	3	0	4	0	4	1	2	3	2	1	2	9	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:39901344C>G	ENST00000564288.1	+	70	18676	c.17899C>G	c.(17899-17901)Cag>Gag	p.Q5967E	MACF1_ENST00000317713.7_Missense_Mutation_p.Q3905E|MACF1_ENST00000289893.4_Missense_Mutation_p.Q4407E|MACF1_ENST00000567887.1_Missense_Mutation_p.Q6004E|MACF1_ENST00000361689.2_Missense_Mutation_p.Q3905E|MACF1_ENST00000539005.1_Missense_Mutation_p.Q3775E|MACF1_ENST00000545844.1_Missense_Mutation_p.Q3905E|MACF1_ENST00000372915.3_Missense_Mutation_p.Q5863E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5979					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAAATACCAGAAAGCAGA	0.463													38	84					0	0	0	0	G	39901344	C	G	39901344	3	3	47	1	0	0	0	0	1	0	0	0	9209	595	21	4	18122	4	MACF1	1	39901344	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	437380	39901344	209349277	15	8893											
NASP	4678	broad.mit.edu	37	chr1	46067982	46067982	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtttaggacagaaacatctgGtgatgggggatattccagca	12	10	13	6	0	1	2	0	1	1	1	2	4	2	4	1	4	2	2	1	4	3	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:46067982G>C	ENST00000350030.3	+	3	250	c.163G>C	c.(163-165)Gtg>Ctg	p.V55L	NASP_ENST00000537798.1_Intron|NASP_ENST00000351223.3_Missense_Mutation_p.V55L|NASP_ENST00000402363.3_Missense_Mutation_p.V57L|NASP_ENST00000372052.4_Missense_Mutation_p.V55L	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	55					blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GAAACATCTGGTGATGGGGGA	0.348													22	68					0	0	0	0	C	46067982	G	C	46067982	3	2	47	1	0	0	0	0	1	0	0	0	10242	1261	44	4	250	4	NASP	1	46067982	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	6166638	46067982	203182639	16	8894											
GPBP1L1	60313	broad.mit.edu	37	chr1	46124746	46124746	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagccaagcaggaacaaaaTcatgctgcgccatttaggtc	13	9	9	10	1	1	0	1	0	0	0	2	1	1	1	2	2	5	2	2	2	6	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:46124746T>C	ENST00000355105.3	-	4	1374	c.14A>G	c.(13-15)gAt>gGt	p.D5G	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.D5G	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AGGAACAAAATCATGCTGCGC	0.433													24	68					0	0	0	0	C	46124746	T	C	46124746	3	2	47	1	0	0	0	0	1	0	0	0	6645	1435	50	5	1450	5	GPBP1L1	1	46124746	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	56764	46124746	203125875	17	8895											
PIK3R3	8503	broad.mit.edu	37	chr1	46546392	46546392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatttggaactgctgaaGtcattggcttaggtggcttt	7	16	11	7	0	1	1	1	1	0	0	2	2	2	2	1	4	2	3	1	4	3	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:46546392G>A	ENST00000262741.5	-	2	826	c.137C>T	c.(136-138)aCt>aTt	p.T46I	PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000372006.1_Missense_Mutation_p.T46I|PIK3R3_ENST00000354242.4_Missense_Mutation_p.T46I|PIK3R3_ENST00000423209.1_Missense_Mutation_p.T46I|PIK3R3_ENST00000420542.1_Missense_Mutation_p.T46I|PIK3R3_ENST00000540385.1_Missense_Mutation_p.T92I	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	46					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					AACTGCTGAAGTCATTGGCTT	0.393													73	176					0	0	0	0	A	46546392	G	A	46546392	3	1	47	1	0	0	0	0	1	0	0	0	11992	1029	36	4	1284	4	PIK3R3	1	46546392	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	421646	46546392	202704229	18	8896											
CC2D1B	200014	broad.mit.edu	37	chr1	52825164	52825164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatggcactcagatccaCgggctgccccttctccaggg	6	7	13	15	1	2	1	1	0	1	1	4	1	3	1	4	4	1	3	4	4	0	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:52825164C>A	ENST00000371586.2	-	9	1123	c.985G>T	c.(985-987)Gtg>Ttg	p.V329L	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.V329L	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	329										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTCAGATCCACGGGCTGCCCC	0.637													9	48					2.68362e-12	3.35989e-12	1	0	A	52825164	C	A	52825164	3	1	47	1	0	0	0	0	1	0	0	0	2752	536	19	3	1655	3	CC2D1B	1	52825164	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	6278772	52825164	196425457	19	8897											
SLC1A7	6512	broad.mit.edu	37	chr1	53555531	53555531	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggcagtcccacggaggtGagcacgatgaccatggtgac	9	6	16	10	2	0	3	0	3	0	0	1	5	1	4	2	4	1	2	2	4	0	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:53555531G>A	ENST00000371494.4	-	9	1429	c.1302C>T	c.(1300-1302)ctC>ctT	p.L434L	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	434						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CCACGGAGGTGAGCACGATGA	0.627													22	79					0	0	0	0	A	53555531	G	A	53555531	2	1	47	1	0	0	0	0	0	0	0	1	14525	1277	45	2		2	SLC1A7	1	53555531	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	730367	53555531	195695090	20	8898											
PCSK9	255738	broad.mit.edu	37	chr1	55527213	55527213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaggagcatggaatccCggcccctcaggagcaggtga	11	5	14	11	1	2	1	2	1	0	0	3	4	3	4	3	5	2	2	3	5	2	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:55527213C>T	ENST00000302118.5	+	11	2137	c.1847C>T	c.(1846-1848)cCg>cTg	p.P616L	PCSK9_ENST00000543384.1_3'UTR|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	616			P -> L.		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CATGGAATCCCGGCCCCTCAG	0.632													7	8					0	0	0	0	T	55527213	C	T	55527213	3	4	47	1	0	0	0	0	1	0	0	0	11677	652	23	1	1889	1	PCSK9	1	55527213	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1971682	55527213	193723408	21	8899											
WDR78	79819	broad.mit.edu	37	chr1	67337096	67337096	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacattgaacatctttattCtttggtgctccattgaaagt	10	17	6	8	0	3	2	1	2	2	0	4	2	4	2	1	1	2	1	1	1	3	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:67337096C>G	ENST00000371026.3	-	6	952	c.897G>C	c.(895-897)aaG>aaC	p.K299N	WDR78_ENST00000371023.3_Missense_Mutation_p.K299N|WDR78_ENST00000371022.3_Missense_Mutation_p.K299N|WDR78_ENST00000431318.1_Missense_Mutation_p.K45N	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	299										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CATCTTTATTCTTTGGTGCTC	0.303													23	29					0	0	0	0	G	67337096	C	G	67337096	3	3	47	1	0	0	0	0	1	0	0	0	17424	912	32	2	1754	2	WDR78	1	67337096	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	11809883	67337096	181913525	22	8900											
NEGR1	257194	broad.mit.edu	37	chr1	71873200	71873200	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaacacaaggtaccagcAggagaaaagaacatcagcgc	17	4	10	10	1	2	2	2	0	0	2	2	3	2	2	1	2	5	2	1	2	6	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:71873200A>T	ENST00000357731.4	-	7	1233	c.994T>A	c.(994-996)Tgc>Agc	p.C332S	NEGR1_ENST00000434200.1_Missense_Mutation_p.C286S|ZRANB2-AS2_ENST00000430605.1_RNA|NEGR1_ENST00000306821.3_Missense_Mutation_p.C204S	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	332					cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AGGTACCAGCAGGAGAAAAGA	0.398													11	30					0	0	0	0	T	71873200	A	T	71873200	3	4	47	1	0	0	0	0	1	0	0	0	10387	188	7	5	74	5	NEGR1	1	71873200	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	4536104	71873200	177377421	23	8901											
C1orf173	127254	broad.mit.edu	37	chr1	75038328	75038328	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcttccttgcaaaggaaGgcttcctttgcaaggcttcc	9	12	8	12	0	1	0	0	0	1	0	4	1	4	1	3	3	2	4	3	3	3	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:75038328G>C	ENST00000326665.5	-	14	3284	c.3066C>G	c.(3064-3066)gcC>gcG	p.A1022A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1022	Glu-rich.									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						TGCAAAGGAAGGCTTCCTTTG	0.502													39	105					0	0	0	0	C	75038328	G	C	75038328	2	2	47	1	0	0	0	0	0	0	0	1	2033	987	35	4		4	C1orf173	1	75038328	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	3165128	75038328	174212293	24	8902											
SYDE2	84144	broad.mit.edu	37	chr1	85656331	85656331	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaattgcgtttctttgaaaCagtgatgctgttaagtggct	9	15	10	7	1	1	2	0	2	1	0	1	2	1	2	1	1	3	4	1	1	3	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:85656331C>A	ENST00000341460.5	-	2	899	c.850G>T	c.(850-852)Gtt>Ttt	p.V284F		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	284					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	p.V284I(1)|p.V206I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTCTTTGAAACAGTGATGCTG	0.373													46	106					7.70917e-36	1.10941e-35	1	0	A	85656331	C	A	85656331	3	1	47	1	0	0	0	0	1	0	0	0	15527	478	17	4	2758	4	SYDE2	1	85656331	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	10618003	85656331	163594290	25	8903											
AMPD2	271	broad.mit.edu	37	chr1	110171292	110171292	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagacctggaggagagcAaataccagaatgcagagctg	14	6	13	8	0	1	4	1	0	0	4	1	6	1	5	2	2	4	3	2	2	3	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:110171292A>G	ENST00000256578.3	+	12	1957	c.1597A>G	c.(1597-1599)Aaa>Gaa	p.K533E	AMPD2_ENST00000358729.4_Missense_Mutation_p.K458E|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Missense_Mutation_p.K415E|AMPD2_ENST00000342115.4_Missense_Mutation_p.K452E|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Missense_Mutation_p.K414E|AMPD2_ENST00000528667.1_Missense_Mutation_p.K533E	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	533					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGAGGAGAGCAAATACCAGAA	0.597													7	20					0	0	0	0	G	110171292	A	G	110171292	3	3	47	1	0	0	0	0	1	0	0	0	586	131	5	5	1684	5	AMPD2	1	110171292	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	24514961	110171292	139079329	26	8904											
KCNA2	3737	broad.mit.edu	37	chr1	111146455	111146455	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctttgagggtctgacctAgaatctggagacctttggag	8	12	14	7	0	2	4	0	2	2	2	2	6	2	5	2	4	0	1	2	4	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:111146455A>G	ENST00000485317.1	-	3	1623	c.950T>C	c.(949-951)cTa>cCa	p.L317P	KCNA2_ENST00000440270.1_Missense_Mutation_p.L317P|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.L317P			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	317						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGTCTGACCTAGAATCTGGAG	0.488													8	71					0	0	0	0	G	111146455	A	G	111146455	3	3	47	1	0	0	0	0	1	0	0	0	8056	420	15	5	553	5	KCNA2	1	111146455	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	975163	111146455	138104166	27	8905											
KCNA3	3738	broad.mit.edu	37	chr1	111215826	111215826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaagcgctatggttcatacCcccctcttcgatcaccatat	10	11	6	14	2	3	0	2	0	1	0	4	2	3	0	4	1	2	2	4	1	4	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:111215826C>G	ENST00000369769.2	-	1	1829	c.1606G>C	c.(1606-1608)Ggt>Cgt	p.G536R		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	536						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGTTCATACCCCCCTCTTCG	0.517													30	67					0	0	0	0	G	111215826	C	G	111215826	3	3	47	1	0	0	0	0	1	0	0	0	8057	623	22	4	125	4	KCNA3	1	111215826	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	69371	111215826	138034795	28	8906											
KCND3	3752	broad.mit.edu	37	chr1	112524391	112524391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagagaagaaagcccagttCggaggcacagctcttcagtg	13	6	13	9	1	2	2	1	0	1	2	3	5	2	3	1	2	2	3	1	2	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:112524391C>T	ENST00000369697.1	-	1	1027	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	KCND3_ENST00000315987.2_Missense_Mutation_p.E320K|KCND3_ENST00000302127.4_Missense_Mutation_p.E320K			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	320						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AAGCCCAGTTCGGAGGCACAG	0.567													28	52					0	0	0	0	T	112524391	C	T	112524391	3	4	47	1	0	0	0	0	1	0	0	0	8073	893	31	1	1037	1	KCND3	1	112524391	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1308565	112524391	136726230	29	8907											
ADAM30	11085	broad.mit.edu	37	chr1	120437448	120437448	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatgctttggcactgcatAtatctggatctgcacccctt	10	13	7	11	0	2	0	0	0	2	0	2	1	2	1	2	2	3	4	2	2	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:120437448A>G	ENST00000369400.1	-	1	1670	c.1512T>C	c.(1510-1512)taT>taC	p.Y504Y		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	504	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GGCACTGCATATATCTGGATC	0.453													18	42					0	0	0	0	G	120437448	A	G	120437448	2	3	47	1	0	0	0	0	0	0	0	1	248	456	16	5		5	ADAM30	1	120437448	Silent	SNP	A	TCGA-BB-7871-01A-11D-2229-08	7913057	120437448	128813173	30	8908											
CHD1L	9557	broad.mit.edu	37	chr1	146758169	146758169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggatgctctcattgtgcActgcgtaggtacgagaagtg	9	10	14	8	3	1	1	1	0	1	1	2	4	1	2	0	2	4	4	0	2	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:146758169A>G	ENST00000369258.4	+	18	2233	c.2213A>G	c.(2212-2214)cAc>cGc	p.H738R	CHD1L_ENST00000361293.5_Missense_Mutation_p.H457R|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.H534R|CHD1L_ENST00000431239.1_Missense_Mutation_p.H644R	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	738	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CTCATTGTGCACTGCGTAGGT	0.587													30	112					0	0	0	0	G	146758169	A	G	146758169	3	3	47	1	0	0	0	0	1	0	0	0	3353	159	6	5	2283	5	CHD1L	1	146758169	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	26320721	146758169	102492452	31	8909											
GJA8	2703	broad.mit.edu	37	chr1	147380514	147380514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actaagaagttccggctggaGgggaccctgctgaggaccta	10	7	14	10	1	0	2	0	1	0	1	1	5	1	5	3	5	1	3	3	5	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:147380514G>T	ENST00000240986.4	+	2	485	c.432G>T	c.(430-432)gaG>gaT	p.E144D	GJA8_ENST00000369235.1_Missense_Mutation_p.E144D	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	144					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCCGGCTGGAGGGGACCCTGC	0.617													29	126					1.39806e-14	1.79709e-14	1	0	T	147380514	G	T	147380514	3	4	47	1	0	0	0	0	1	0	0	0	6456	991	35	4	434	4	GJA8	1	147380514	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	622345	147380514	101870107	32	8910											
SELENBP1	8991	broad.mit.edu	37	chr1	151341921	151341921	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccaagccccgcctaacctgGcaatactggggagacttggg	9	6	12	14	1	0	1	0	0	0	1	0	2	0	1	5	4	3	1	5	4	4	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:151341921G>A	ENST00000426705.2	-	3	441	c.297C>T	c.(295-297)tgC>tgT	p.C99C	SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000447402.3_Silent_p.C57C|SELENBP1_ENST00000368868.5_Silent_p.C57C|SELENBP1_ENST00000435071.1_5'UTR	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	57					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTAACCTGGCAATACTGGG	0.597													7	22					0	0	0	0	A	151341921	G	A	151341921	2	1	47	1	0	0	0	0	0	0	0	1	14101	1195	42	4		4	SELENBP1	1	151341921	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	3961407	151341921	97908700	33	8911											
TDRD10	126668	broad.mit.edu	37	chr1	154516912	154516912	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcggaggagcagcagccctAcctggagggctccaccgtta	8	5	15	13	2	0	0	0	0	0	0	1	3	1	3	4	5	4	4	4	5	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:154516912A>T	ENST00000368482.4	+	10	1554	c.716A>T	c.(715-717)tAc>tTc	p.Y239F	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.Y239F	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	239	Tudor.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCAGCCCTACCTGGAGGGC	0.642													5	20					0	0	0	0	T	154516912	A	T	154516912	3	4	47	1	0	0	0	0	1	0	0	0	15825	391	14	5	750	5	TDRD10	1	154516912	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	3174991	154516912	94733709	34	8912											
GBA	2629	broad.mit.edu	37	chr1	155207167	155207167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcagcagcaagcgttggtCatccagcatgagtaggcgga	10	6	16	9	2	1	1	1	1	0	0	2	2	2	2	1	4	4	6	1	4	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:155207167C>T	ENST00000428024.2	-	6	1205	c.703G>A	c.(703-705)Gac>Aac	p.D235N	GBA_ENST00000327247.5_Missense_Mutation_p.D322N|GBA_ENST00000536770.1_Missense_Mutation_p.D209N|GBA_ENST00000427500.2_Missense_Mutation_p.D273N|GBA_ENST00000368373.3_Missense_Mutation_p.D322N	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	322			S -> P (in GD; type 2; gene conversion; dbSNP:rs1064644).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	AAGCGTTGGTCATCCAGCATG	0.572									Gaucher disease type I				19	42					0	0	0	0	T	155207167	C	T	155207167	3	4	47	1	0	0	0	0	1	0	0	0	6315	826	29	2	666	2	GBA	1	155207167	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	690255	155207167	94043454	35	8913											
ARHGEF11	9826	broad.mit.edu	37	chr1	156931516	156931516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtctttccccaagcttcGggaatccttggggcttgcct	5	13	11	12	1	1	0	0	0	1	0	4	2	3	1	4	3	2	2	4	3	2	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:156931516G>C	ENST00000368194.3	-	14	2231	c.1192C>G	c.(1192-1194)Cga>Gga	p.R398G	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R358G	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	358	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCAAGCTTCGGGAATCCTTG	0.438													22	77					0	0	0	0	C	156931516	G	C	156931516	3	2	47	1	0	0	0	0	1	0	0	0	898	1124	39	3	3608	3	ARHGEF11	1	156931516	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1724349	156931516	92319105	36	8914											
SPTA1	6708	broad.mit.edu	37	chr1	158582684	158582684	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctctatttcatcactggActtgatgttttctgactcct	7	19	5	10	0	4	2	2	2	2	0	6	3	5	3	1	1	0	1	1	1	1	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:158582684A>T	ENST00000368148.3	-	51	7237	c.7057T>A	c.(7057-7059)Tcc>Acc	p.S2353T	SPTA1_ENST00000368147.3_Missense_Mutation_p.S2350T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2353	EF-hand 3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATCACTGGACTTGATGTTT	0.478													35	40					0	0	0	0	T	158582684	A	T	158582684	3	4	47	1	0	0	0	0	1	0	0	0	15206	275	10	5	210	5	SPTA1	1	158582684	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	1651168	158582684	90667937	37	8915											
OR10J1	26476	broad.mit.edu	37	chr1	159410206	159410206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgtgctggtgcttgttgtaCctatgggtctggttttcatt	3	19	13	6	0	2	0	1	0	1	0	2	0	2	0	1	3	3	5	1	3	2	7			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:159410206C>A	ENST00000423932.3	+	1	695	c.658C>A	c.(658-660)Cct>Act	p.P220T	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	220					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GCTTGTTGTACCTATGGGTCT	0.453													70	81					9.5628e-27	1.34222e-26	1	0	A	159410206	C	A	159410206	3	1	47	1	0	0	0	0	1	0	0	0	10981	507	18	4	660	4	OR10J1	1	159410206	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	827522	159410206	89840415	38	8916											
F11R	50848	broad.mit.edu	37	chr1	160968674	160968674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaggctcacaccaggaatGacgaggtctgtttgaattct	11	10	10	10	1	3	2	1	2	2	0	3	4	3	3	2	3	0	2	2	3	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:160968674G>A	ENST00000368026.6	-	10	1161	c.887C>T	c.(886-888)tCa>tTa	p.S296L	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.S247L	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	296					blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CACCAGGAATGACGAGGTCTG	0.473													17	57					0	0	0	0	A	160968674	G	A	160968674	3	1	47	1	0	0	0	0	1	0	0	0	5376	1294	45	2	16	2	F11R	1	160968674	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1558468	160968674	88281947	39	8917											
APOA2	336	broad.mit.edu	37	chr1	161192214	161192214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcactgggtggcaggctgtGttccaagttccacgaaatag	9	11	12	9	1	1	0	1	0	0	0	3	1	3	0	2	3	0	4	2	3	3	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:161192214G>T	ENST00000367990.3	-	4	341	c.284C>A	c.(283-285)aCa>aAa	p.T95K	AL590714.1_ENST00000594609.1_Missense_Mutation_p.C50F|APOA2_ENST00000481413.1_5'UTR	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II	95					cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGCAGGCTGTGTTCCAAGTTC	0.522													38	180					4.32679e-17	5.7385e-17	1	0	T	161192214	G	T	161192214	3	4	47	1	0	0	0	0	1	0	0	0	784	1377	48	4	22	4	APOA2	1	161192214	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	223540	161192214	88058407	40	8918											
NOS1AP	9722	broad.mit.edu	37	chr1	162337111	162337111	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctcatcaagttccgaGagtcaggcatcgcctcggag	9	8	13	11	3	3	1	3	0	0	1	6	4	4	3	2	3	1	3	2	3	1	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:162337111G>T	ENST00000493151.1	+	2	2857	c.490G>T	c.(490-492)Gag>Tag	p.E164*	NOS1AP_ENST00000361897.5_Nonsense_Mutation_p.E459*|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000530878.1_Nonsense_Mutation_p.E454*	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	459	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CAAGTTCCGAGAGTCAGGCAT	0.662													9	36					5.4927e-09	6.42698e-09	1	0	T	162337111	G	T	162337111	4	4	47	1	0	0	0	0	0	1	0	0	10612	943	33	2	1467	2	NOS1AP	1	162337111	Nonsense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1144897	162337111	86913510	41	8919											
ABL2	27	broad.mit.edu	37	chr1	179100584	179100584	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatttagtgcctggggttCaacatcacaaccatagggac	11	10	9	11	0	3	0	3	0	0	0	3	1	3	1	2	3	3	1	2	3	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:179100584C>G	ENST00000502732.1	-	3	456	c.253G>C	c.(253-255)Gaa>Caa	p.E85Q	ABL2_ENST00000504405.1_Missense_Mutation_p.E49Q|ABL2_ENST00000408940.3_Missense_Mutation_p.E49Q|ABL2_ENST00000344730.3_Missense_Mutation_p.E70Q|ABL2_ENST00000507173.1_Missense_Mutation_p.E64Q|ABL2_ENST00000367623.4_Missense_Mutation_p.E64Q|ABL2_ENST00000512653.1_Missense_Mutation_p.E70Q|ABL2_ENST00000511413.1_Missense_Mutation_p.E85Q|ABL2_ENST00000392043.3_Missense_Mutation_p.E64Q	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	85	CAP.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GCCTGGGGTTCAACATCACAA	0.448			T	ETV6	AML								13	61					0	0	0	0	G	179100584	C	G	179100584	3	3	47	1	0	0	0	0	1	0	0	0	93	835	29	2	3380	2	ABL2	1	179100584	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	16763473	179100584	70150037	42	8920											
CEP350	9857	broad.mit.edu	37	chr1	180065045	180065045	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctagatatagaaagcactAgtaaaagggtctacaaacag	18	8	9	6	0	2	2	0	0	2	2	2	2	2	2	0	1	3	2	0	1	9	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:180065045A>G	ENST00000367607.3	+	35	9317	c.8899A>G	c.(8899-8901)Agt>Ggt	p.S2967G	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2967						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAAAGCACTAGTAAAAGGGT	0.348													18	18					0	0	0	0	G	180065045	A	G	180065045	3	3	47	1	0	0	0	0	1	0	0	0	3283	420	15	5	9033	5	CEP350	1	180065045	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	964461	180065045	69185576	43	8921											
LAMC2	3918	broad.mit.edu	37	chr1	183206612	183206612	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaagaagcacagcagctCttacagaatggaaaaagtgg	19	5	11	6	0	1	3	0	0	1	3	1	4	1	4	0	2	4	3	0	2	7	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:183206612C>G	ENST00000264144.4	+	18	2792	c.2727C>G	c.(2725-2727)ctC>ctG	p.L909L	LAMC2_ENST00000493293.1_Silent_p.L909L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	909	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CACAGCAGCTCTTACAGAATG	0.393													4	29					0	0	0	0	G	183206612	C	G	183206612	2	3	47	1	0	0	0	0	0	0	0	1	8668	900	32	2		2	LAMC2	1	183206612	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	3141567	183206612	66044009	44	8922											
C1orf27	54953	broad.mit.edu	37	chr1	186359971	186359971	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtcagctatactctggaGaaaaatacaaaggtaccagg	15	9	9	8	0	3	1	1	0	2	1	3	2	3	1	1	3	4	2	1	3	7	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:186359971G>C	ENST00000367470.3	+	7	839	c.603G>C	c.(601-603)gaG>gaC	p.E201D	C1orf27_ENST00000287859.6_Missense_Mutation_p.E201D|C1orf27_ENST00000432021.3_Missense_Mutation_p.E201D|C1orf27_ENST00000419367.3_Missense_Mutation_p.E169D	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	201						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						ATACTCTGGAGAAAAATACAA	0.353													12	14					0	0	0	0	C	186359971	G	C	186359971	3	2	47	1	0	0	0	0	1	0	0	0	2056	933	33	2	625	2	C1orf27	1	186359971	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	3153359	186359971	62890650	45	8923											
KCNT2	343450	broad.mit.edu	37	chr1	196250048	196250048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccaatgggaacatctccaGtagaagaacacaacttctga	15	9	7	10	0	2	3	0	1	2	2	4	4	3	4	2	1	3	1	2	1	6	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:196250048G>T	ENST00000367433.5	-	24	2881	c.2780C>A	c.(2779-2781)aCt>aAt	p.T927N	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.T951N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.T877N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	951						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AACATCTCCAGTAGAAGAACA	0.333													16	37					2.31682e-05	2.48344e-05	1	0	T	196250048	G	T	196250048	3	4	47	1	0	0	0	0	1	0	0	0	8145	1029	36	4	571	4	KCNT2	1	196250048	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	9890077	196250048	53000573	46	8924											
CFHR5	81494	broad.mit.edu	37	chr1	196965167	196965167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagaacaagtgaaaacatGtggatacatacctgaactcg	16	9	8	8	1	0	3	0	2	0	1	1	4	0	4	1	1	5	0	1	1	8	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:196965167G>A	ENST00000367414.5	+	6	934	c.878G>A	c.(877-879)tGt>tAt	p.C293Y	CFHR5_ENST00000256785.4_Missense_Mutation_p.C269Y	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	269	Sushi 5.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTGAAAACATGTGGATACATA	0.343													27	85					0	0	0	0	A	196965167	G	A	196965167	3	1	47	1	0	0	0	0	1	0	0	0	3317	1377	48	4	828	4	CFHR5	1	196965167	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	715119	196965167	52285454	47	8925											
CRB1	23418	broad.mit.edu	37	chr1	197391059	197391059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accagtgtgactgccacaggCcctatgaaggccccaactgt	10	7	10	14	0	0	2	0	2	0	0	0	2	0	2	5	2	2	0	5	2	3	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:197391059C>A	ENST00000367397.1	+	2	1102	c.244C>A	c.(244-246)Ccc>Acc	p.P82T	CRB1_ENST00000544212.1_Missense_Mutation_p.P182T|CRB1_ENST00000535699.1_Missense_Mutation_p.P632T|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367400.3_Missense_Mutation_p.P701T|CRB1_ENST00000367399.2_Missense_Mutation_p.P589T|CRB1_ENST00000538660.1_Missense_Mutation_p.P701T			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	701	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGCCACAGGCCCTATGAAGG	0.532													37	30					3.33393e-15	4.32996e-15	1	0	A	197391059	C	A	197391059	3	1	47	1	0	0	0	0	1	0	0	0	3878	739	26	4	2123	4	CRB1	1	197391059	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	425892	197391059	51859562	48	8926											
NR5A2	2494	broad.mit.edu	37	chr1	200008821	200008821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accgacacggatcccccatcCccgcccgcggtcgccttgtc	5	6	9	21	6	0	0	0	0	0	0	4	2	2	1	7	2	0	0	7	2	0	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:200008821C>A	ENST00000367362.3	+	2	346	c.100C>A	c.(100-102)Ccc>Acc	p.P34T	NR5A2_ENST00000236914.3_Intron	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	34					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					ATCCCCCATCCCCGCCCGCGG	0.642													25	105					3.28513e-13	4.17138e-13	1	0	A	200008821	C	A	200008821	3	1	47	1	0	0	0	0	1	0	0	0	10707	623	22	4	106	4	NR5A2	1	200008821	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	2617762	200008821	49241800	49	8927											
ADORA1	134	broad.mit.edu	37	chr1	203098090	203098090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtgaaccaggcgctgCgggatgccaccttctgcttc	7	9	13	12	2	1	2	0	2	1	0	2	3	1	3	3	3	4	2	3	3	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:203098090C>T	ENST00000367236.4	+	2	1042	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	ADORA1_ENST00000337894.4_Missense_Mutation_p.R41W|ADORA1_ENST00000309502.3_Missense_Mutation_p.R41W|ADORA1_ENST00000367235.1_Missense_Mutation_p.R41W	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	41					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CCAGGCGCTGCGGGATGCCAC	0.637													63	118					0	0	0	0	T	203098090	C	T	203098090	3	4	47	1	0	0	0	0	1	0	0	0	326	759	27	1	123	1	ADORA1	1	203098090	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	3089269	203098090	46152531	50	8928											
PRELP	5549	broad.mit.edu	37	chr1	203455927	203455927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacacctgcgctacctgcGgctggatggaaactacttga	9	8	11	13	2	0	1	0	1	0	0	0	3	0	3	3	3	5	2	3	3	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:203455927G>A	ENST00000343110.2	+	3	1194	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	356					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGCTACCTGCGGCTGGATGGA	0.597													20	35					0	0	0	0	A	203455927	G	A	203455927	3	1	47	1	0	0	0	0	1	0	0	0	12553	1116	39	1	1073	1	PRELP	1	203455927	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	357837	203455927	45794694	51	8929											
PIK3C2B	5287	broad.mit.edu	37	chr1	204394033	204394033	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaccagccggtcttctcctGagccaggtccagctctcgca	7	8	10	16	2	3	1	0	1	3	0	6	2	4	1	5	2	4	2	5	2	1	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:204394033G>C	ENST00000367187.3	-	34	5408	c.4852C>G	c.(4852-4854)Cag>Gag	p.Q1618E	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.Q1590E	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1618					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTCTTCTCCTGAGCCAGGTCC	0.642													12	42					0	0	0	0	C	204394033	G	C	204394033	3	2	47	1	0	0	0	0	1	0	0	0	11982	1299	45	2	56	2	PIK3C2B	1	204394033	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	938106	204394033	44856588	52	8930											
NFASC	23114	broad.mit.edu	37	chr1	204931255	204931255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacccttataatgactcGtccttaagaaaccaccctga	13	9	5	14	1	0	3	0	2	0	1	2	4	1	3	5	0	1	0	5	0	4	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:204931255G>A	ENST00000539706.1	+	8	1036	c.708G>A	c.(706-708)tcG>tcA	p.S236S	NFASC_ENST00000360049.4_Silent_p.S236S|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000404907.1_Silent_p.S236S|NFASC_ENST00000403080.1_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Intron|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000367172.4_Intron|NFASC_ENST00000513543.1_Silent_p.S236S|NFASC_ENST00000338586.6_Intron	NM_001160332.1	NP_001153804.1	O94856	NFASC_HUMAN	neurofascin	236					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATAATGACTCGTCCTTAAGAA	0.488													105	451					0	0	0	0	A	204931255	G	A	204931255	2	1	47	1	0	0	0	0	0	0	0	1	10429	1132	40	1		1	NFASC	1	204931255	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	537222	204931255	44319366	53	8931											
ELK4	2005	broad.mit.edu	37	chr1	205589479	205589479	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcttccagggaaggcagtTttggggaaaccaatgtctcc	9	9	14	9	0	1	0	0	0	1	0	3	2	2	2	3	5	1	3	3	5	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:205589479T>A	ENST00000357992.4	-	3	1034	c.695A>T	c.(694-696)aAa>aTa	p.K232I	ELK4_ENST00000289703.4_Missense_Mutation_p.K232I	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GGAAGGCAGTTTTGGGGAAAC	0.507			T	SLC45A3	prostate								32	142					0	0	0	0	A	205589479	T	A	205589479	3	1	47	1	0	0	0	0	1	0	0	0	5099	1841	64	5	750	5	ELK4	1	205589479	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	658224	205589479	43661142	54	8932											
IRF6	3664	broad.mit.edu	37	chr1	209963078	209963078	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttccccaaagcataagtaGatctcaaacggtggctgctt	11	11	8	11	1	2	1	1	0	2	1	4	1	3	1	2	2	3	4	2	2	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:209963078G>C	ENST00000367021.3	-	8	1285	c.1113C>G	c.(1111-1113)atC>atG	p.I371M	IRF6_ENST00000542854.1_Missense_Mutation_p.I276M	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	371					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGCATAAGTAGATCTCAAACG	0.453										HNSCC(57;0.16)			14	59					0	0	0	0	C	209963078	G	C	209963078	3	2	47	1	0	0	0	0	1	0	0	0	7887	932	33	2	298	2	IRF6	1	209963078	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	4373599	209963078	39287543	55	8933											
PROX1	5629	broad.mit.edu	37	chr1	214185035	214185035	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagggctctgaacatgcacTacaataaagcaaatgacttt	16	9	7	9	0	1	2	0	2	1	0	1	2	1	2	0	1	4	3	0	1	6	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:214185035T>A	ENST00000366958.4	+	4	2613	c.2005T>A	c.(2005-2007)Tac>Aac	p.Y669N	PROX1_ENST00000498508.2_Missense_Mutation_p.Y669N|PROX1_ENST00000435016.1_Missense_Mutation_p.Y669N|PROX1_ENST00000261454.4_Missense_Mutation_p.Y669N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	669	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAACATGCACTACAATAAAGC	0.393													49	82					0	0	0	0	A	214185035	T	A	214185035	3	1	47	1	0	0	0	0	1	0	0	0	12640	1522	53	5	2015	5	PROX1	1	214185035	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	4221957	214185035	35065586	56	8934											
TLR5	7100	broad.mit.edu	37	chr1	223284017	223284017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaccaccaccatgatgagaGcactgttaaggtcagataag	15	7	9	10	0	1	3	1	2	0	2	1	4	1	3	3	1	2	2	3	1	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:223284017G>A	ENST00000540964.1	-	4	2818	c.2357C>T	c.(2356-2358)gCt>gTt	p.A786V	TLR5_ENST00000342210.6_Missense_Mutation_p.A786V			O60602	TLR5_HUMAN	toll-like receptor 5	786	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CATGATGAGAGCACTGTTAAG	0.483													4	69					0	0	0	0	A	223284017	G	A	223284017	3	1	47	1	0	0	0	0	1	0	0	0	16048	971	34	4	223	4	TLR5	1	223284017	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	9098982	223284017	25966604	57	8935											
CAPN2	824	broad.mit.edu	37	chr1	223934731	223934731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctatgaagcgctatcaggggGtgccaccactgagggcttcg	8	8	14	11	2	1	2	1	2	0	0	2	2	1	2	2	3	2	2	2	3	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:223934731G>T	ENST00000295006.5	+	5	902	c.593G>T	c.(592-594)gGt>gTt	p.G198V	CAPN2_ENST00000433674.2_Missense_Mutation_p.G120V	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	198	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane		p.G198V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CTATCAGGGGGTGCCACCACT	0.517													29	108					1.16021e-09	1.38078e-09	1	0	T	223934731	G	T	223934731	3	4	47	1	0	0	0	0	1	0	0	0	2652	1261	44	4	618	4	CAPN2	1	223934731	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	650714	223934731	25315890	58	8936											
LYST	1130	broad.mit.edu	37	chr1	235937202	235937202	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctaacagcttaacatcttgGattatagcattagagtctac	13	14	6	8	0	3	1	0	0	3	1	3	2	3	2	0	1	5	2	0	1	6	7			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:235937202G>C	ENST00000389794.3	-	19	5898	c.5724C>G	c.(5722-5724)atC>atG	p.I1908M	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.I1908M			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1908					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAACATCTTGGATTATAGCAT	0.333													15	50					0	0	0	0	C	235937202	G	C	235937202	3	2	47	1	0	0	0	0	1	0	0	0	9193	1164	41	2	5821	2	LYST	1	235937202	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	12002471	235937202	13313419	59	8937											
FMN2	56776	broad.mit.edu	37	chr1	240370401	240370401	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctcctgtggatgggctGccagggcgtcctccatgccc	3	9	13	16	1	0	0	0	0	0	0	3	1	3	1	6	3	3	1	6	3	0	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:240370401G>C	ENST00000319653.9	+	5	2519	c.2289G>C	c.(2287-2289)ctG>ctC	p.L763L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	763	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGGATGGGCTGCCAGGGCGTC	0.537													29	33					0	0	0	0	C	240370401	G	C	240370401	2	2	47	1	0	0	0	0	0	0	0	1	5995	1306	46	4		4	FMN2	1	240370401	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	4433199	240370401	8880220	60	8938											
OR2G2	81470	broad.mit.edu	37	chr1	247752058	247752058	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtggctgtctgccgtcctCtccattacactgtcttaatg	6	15	8	12	1	3	0	0	0	3	0	5	0	4	0	3	1	2	1	3	1	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:247752058C>G	ENST00000320065.1	+	1	397	c.397C>G	c.(397-399)Ctc>Gtc	p.L133V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L133I(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGCCGTCCTCTCCATTACAC	0.547													62	202					0	0	0	0	G	247752058	C	G	247752058	3	3	47	1	0	0	0	0	1	0	0	0	11069	913	32	2	399	2	OR2G2	1	247752058	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	7381657	247752058	1498563	61	8939											
OR6F1	343169	broad.mit.edu	37	chr1	247875357	247875357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggagaaggctttgctcCggccactggcagaggggatc	8	7	16	10	2	0	2	0	0	0	2	2	4	1	3	2	6	1	3	2	6	1	1	rs138204394		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:247875357C>A	ENST00000302084.2	-	1	748	c.701G>T	c.(700-702)cGg>cTg	p.R234L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGCTTTGCTCCGGCCACTGGC	0.527													24	135					5.35356e-11	6.54556e-11	1	0	A	247875357	C	A	247875357	3	1	47	1	0	0	0	0	1	0	0	0	11272	652	23	3	229	3	OR6F1	1	247875357	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	123299	247875357	1375264	62	8940											
OR2L13	284521	broad.mit.edu	37	chr1	248263111	248263111	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gatgtgtgtgaagatgattgGaggctcttggacactggggt	8	12	17	4	0	1	3	0	2	1	1	1	6	1	5	0	5	0	1	0	5	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:248263111G>C	ENST00000366478.2	+	3	771	c.434G>C	c.(433-435)gGa>gCa	p.G145A	OR2L13_ENST00000358120.2_Missense_Mutation_p.G145A	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AAGATGATTGGAGGCTCTTGG	0.483													80	276					0	0	0	0	C	248263111	G	C	248263111	3	2	47	1	0	0	0	0	1	0	0	0	11077	1174	41	2	436	2	OR2L13	1	248263111	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	387754	248263111	987510	63	8941											
OR2M3	127062	broad.mit.edu	37	chr1	248367182	248367182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgctccccaacacaggaCaagatggtgtctgtattcta	11	10	9	11	1	2	1	0	0	2	1	4	3	3	2	2	2	1	2	2	2	4	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:248367182C>A	ENST00000456743.1	+	1	851	c.813C>A	c.(811-813)gaC>gaA	p.D271E		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAACACAGGACAAGATGGTGT	0.488													44	163					4.4882e-36	6.47377e-36	1	0	A	248367182	C	A	248367182	3	1	47	1	0	0	0	0	1	0	0	0	11082	477	17	4	815	4	OR2M3	1	248367182	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	104071	248367182	883439	64	8942											
OR2T11	127077	broad.mit.edu	37	chr1	248790139	248790139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtcaggtagaggaagatCtggatgccacaggccacaaa	14	6	13	8	0	2	2	1	0	1	2	2	4	2	4	2	5	1	1	2	5	3	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:248790139C>G	ENST00000330803.2	-	1	352	c.291G>C	c.(289-291)caG>caC	p.Q97H		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAGGAAGATCTGGATGCCAC	0.498													13	65					0	0	0	0	G	248790139	C	G	248790139	3	3	47	1	0	0	0	0	1	0	0	0	11089	912	32	2	663	2	OR2T11	1	248790139	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	422957	248790139	460482	65	8943											
PGBD2	267002	broad.mit.edu	37	chr1	249212026	249212026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtgtgccgctggcacGatagcagcgtggtcaacatt	8	10	12	11	4	2	0	2	0	0	0	3	1	2	0	1	2	4	3	1	2	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr1:249212026G>T	ENST00000355360.4	+	3	760	c.490G>T	c.(490-492)Gat>Tat	p.D164Y	PGBD2_ENST00000539153.1_Missense_Mutation_p.D412Y|PGBD2_ENST00000329291.5_Missense_Mutation_p.D415Y	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	415										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCGCTGGCACGATAGCAGCGT	0.502													21	63					1.15919e-05	1.2642e-05	1	0	T	249212026	G	T	249212026	3	4	47	1	0	0	0	0	1	0	0	0	11853	1058	37	3	1249	3	PGBD2	1	249212026	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	421887	249212026	38595	66	8944											
FAM110C	642273	broad.mit.edu	37	chr2	46008	46008	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttacccggcccctggaaGagcttcttcaccaggcttgc	6	10	9	16	1	2	1	1	0	1	1	3	2	3	2	5	3	3	2	5	3	2	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:46008G>C	ENST00000327669.4	-	1	377	c.378C>G	c.(376-378)ctC>ctG	p.L126L		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	126						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GCCCCTGGAAGAGCTTCTTCA	0.687													5	22					0	0	0	0	C	46008	G	C	46008	2	2	47	1	0	0	0	0	0	0	0	1	5439	929	33	2		2	FAM110C	2	46008	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08		46008	243153365	67	8945											
KIDINS220	57498	broad.mit.edu	37	chr2	8874867	8874867	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttacactgagctaacacaCggccatttatgtttgcctga	10	13	8	10	1	0	2	0	2	0	0	0	2	0	2	2	1	4	3	2	1	3	5	rs61742970		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:8874867C>G	ENST00000256707.3	-	28	3915	c.3734G>C	c.(3733-3735)cGt>cCt	p.R1245P	KIDINS220_ENST00000427284.1_Missense_Mutation_p.R1226P|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R1226P|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R1146P	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1245					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCTAACACACGGCCATTTAT	0.333													5	18					0	0	0	0	G	8874867	C	G	8874867	3	3	47	1	0	0	0	0	1	0	0	0	8322	536	19	3	1593	3	KIDINS220	2	8874867	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	8828859	8874867	234324506	68	8946											
SMC6	79677	broad.mit.edu	37	chr2	17896314	17896314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagcaagttctgggtccCgaagatgaatgcaagctcct	12	8	10	11	1	1	2	0	1	1	1	3	3	3	2	3	1	3	4	3	1	5	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:17896314C>A	ENST00000448223.2	-	16	1813	c.1544G>T	c.(1543-1545)cGg>cTg	p.R515L	SMC6_ENST00000402989.1_Missense_Mutation_p.R515L|SMC6_ENST00000381272.4_Missense_Mutation_p.R541L|SMC6_ENST00000351948.4_Missense_Mutation_p.R515L	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	515	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	p.R515L(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCTGGGTCCCGAAGATGAAT	0.388													31	64					4.34311e-12	5.4159e-12	1	0	A	17896314	C	A	17896314	3	1	47	1	0	0	0	0	1	0	0	0	14875	652	23	3	1783	3	SMC6	2	17896314	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	9021447	17896314	225303059	69	8947											
APOB	338	broad.mit.edu	37	chr2	21232560	21232560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcatcatcaataaatccaaCcaatttctcaaagtaatctt	17	12	2	10	0	4	0	3	0	2	0	6	0	5	0	2	0	2	2	2	0	7	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:21232560C>A	ENST00000233242.1	-	26	7307	c.7180G>T	c.(7180-7182)Gtt>Ttt	p.V2394F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2394					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATAAATCCAACCAATTTCTCA	0.308													6	16					3.59834e-05	3.85053e-05	1	0	A	21232560	C	A	21232560	3	1	47	1	0	0	0	0	1	0	0	0	787	507	18	4	6527	4	APOB	2	21232560	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	3336246	21232560	221966813	70	8948											
APOB	338	broad.mit.edu	37	chr2	21250809	21250809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taagattcccttctattttgGctgaggctgggtcaagtgat	8	15	11	7	0	2	3	1	2	1	1	3	3	3	3	1	3	0	2	1	3	3	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:21250809G>A	ENST00000233242.1	-	14	2085	c.1958C>T	c.(1957-1959)gCc>gTc	p.A653V	APOB_ENST00000399256.4_Missense_Mutation_p.A653V	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	653	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCTATTTTGGCTGAGGCTGG	0.398													35	77					0	0	0	0	A	21250809	G	A	21250809	3	1	47	1	0	0	0	0	1	0	0	0	787	1203	42	4	11797	4	APOB	2	21250809	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	18249	21250809	221948564	71	8949											
BRE	9577	broad.mit.edu	37	chr2	28521258	28521258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactctcacatttcagtccGtttatcactttaccaacagt	11	14	3	13	1	3	0	3	0	1	0	5	0	4	0	2	0	3	1	2	0	4	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:28521258G>T	ENST00000344773.2	+	11	1126	c.988G>T	c.(988-990)Gtt>Ttt	p.V330F	BRE_ENST00000361704.2_Missense_Mutation_p.V330F|BRE_ENST00000379624.1_Missense_Mutation_p.V330F|BRE_ENST00000379632.2_Missense_Mutation_p.V330F|BRE_ENST00000342045.2_Missense_Mutation_p.V330F	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	330	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					ATTTCAGTCCGTTTATCACTT	0.433													51	134					1.38814e-16	1.83715e-16	1	0	T	28521258	G	T	28521258	3	4	47	1	0	0	0	0	1	0	0	0	1517	1145	40	3	1026	3	BRE	2	28521258	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	7270449	28521258	214678115	72	8950											
EHD3	30845	broad.mit.edu	37	chr2	31457355	31457355	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagccgcgtgcccgggccatGgtgcggctgagccccgcgct	3	6	16	16	6	0	1	0	1	0	0	0	1	0	1	5	3	4	2	5	3	1	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:31457355G>A	ENST00000322054.5	+	0	153				EHD3_ENST00000541626.1_De_novo_Start_InFrame	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3						blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCCGGGCCATGGTGCGGCTGA	0.741													4	6					0	0	0	0	A	31457355	G	A	31457355	1	1	47	1	0	0	0	0	0	0	0	0	5015	1363	47	4		4	EHD3	2	31457355	Translation_Start_Site	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2936097	31457355	211742018	73	8951											
SIX3	6496	broad.mit.edu	37	chr2	45170030	45170030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggcggcagcgcgaccgcGccgcggcggccaagaacagg	8	0	17	16	9	0	1	0	0	0	1	0	2	0	1	4	5	2	1	4	5	2	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:45170030G>A	ENST00000260653.3	+	1	1129	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	263	Poly-Ala.				visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCGCGACCGCGCCGCGGCGGC	0.677													7	34					0	0	0	0	A	45170030	G	A	45170030	3	1	47	1	0	0	0	0	1	0	0	0	14436	1087	38	1	789	1	SIX3	2	45170030	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	13712675	45170030	198029343	74	8952											
SOCS5	9655	broad.mit.edu	37	chr2	46986867	46986867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttctcgaagggaaacctGaaggcacgtttttgctcagg	9	10	11	11	2	2	1	1	1	1	0	3	3	2	2	2	3	2	3	2	3	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:46986867G>A	ENST00000306503.5	+	2	1370	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	SOCS5_ENST00000394861.2_Missense_Mutation_p.E400K	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	400	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGGGAAACCTGAAGGCACGTT	0.527													17	56					0	0	0	0	A	46986867	G	A	46986867	3	1	47	1	0	0	0	0	1	0	0	0	15005	1291	45	2	1200	2	SOCS5	2	46986867	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1816837	46986867	196212506	75	8953											
FBXO11	80204	broad.mit.edu	37	chr2	48066599	48066599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagacactcttgcacgttttGcacgatgaccaaagttttct	10	13	7	11	2	2	2	0	1	2	1	2	3	2	2	1	0	2	4	1	0	1	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:48066599G>A	ENST00000403359.3	-	3	473	c.401C>T	c.(400-402)gCa>gTa	p.A134V	FBXO11_ENST00000378314.3_Missense_Mutation_p.A16V|FBXO11_ENST00000316377.4_Missense_Mutation_p.A50V|FBXO11_ENST00000402508.1_Missense_Mutation_p.A50V|FBXO11_ENST00000480038.1_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	134					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCACGTTTTGCACGATGACC	0.328			"Mis, F, D"		DLBCL								5	33					0	0	0	0	A	48066599	G	A	48066599	3	1	47	1	0	0	0	0	1	0	0	0	5772	1319	46	4	2556	4	FBXO11	2	48066599	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1079732	48066599	195132774	76	8954											
FANCL	55120	broad.mit.edu	37	chr2	58425730	58425730	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgaggagaatttaccTgaggtgtccaggaggcacaa	12	9	12	8	0	0	3	0	2	0	1	1	5	1	4	3	4	2	1	3	4	4	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:58425730T>A	ENST00000402135.3	-	7	575	c.539A>T	c.(538-540)cAg>cTg	p.Q180L	FANCL_ENST00000403295.3_Splice_Site_p.Q180_splice|FANCL_ENST00000403676.1_Splice_Site_p.Q63_splice|FANCL_ENST00000233741.4_Splice_Site_p.Q180_splice|FANCL_ENST00000540646.1_Intron	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	180					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						AGAATTTACCTGAGGTGTCCA	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	36					0	0	0	0	A	58425730	T	A	58425730	3	1	47	1	0	0	0	0	1	0	0	0	5715	1594	55	5	635	5	FANCL	2	58425730	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	10359131	58425730	184773643	77	8955											
MRPL19	9801	broad.mit.edu	37	chr2	75882378	75882378	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaaaattgaagctgcaatAtggaaggaaattgaagcgtc	17	9	10	5	1	1	2	1	2	0	0	2	4	1	4	0	2	3	2	0	2	8	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:75882378A>G	ENST00000393909.2	+	6	871	c.846A>G	c.(844-846)atA>atG	p.I282M	MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Missense_Mutation_p.I282M	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	282					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						AAGCTGCAATATGGAAGGAAA	0.363													18	51					0	0	0	0	G	75882378	A	G	75882378	3	3	47	1	0	0	0	0	1	0	0	0	9854	439	16	5	868	5	MRPL19	2	75882378	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	17456648	75882378	167316995	78	8956											
ST3GAL5	8869	broad.mit.edu	37	chr2	86073500	86073501	+	Splice_Site	INS	-	-	A																															tagaagtattagtgcttaccINSagggtttccttttttaccat																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:86073500_86073501insA	ENST00000377332.3	-	5	956_957	c.849_splice	c.e5+1	p.P283_splice	ST3GAL5_ENST00000393808.3_Splice_Site_p.P260_splice|ST3GAL5_ENST00000393805.1_Splice_Site_p.P255_splice	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	283					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						TAGTGCTTACCAGGGTTTCCTT	0.332													8	22	---	---	---	---					A	86073501	-	A	86073500	8	5	47	1	0	1	1	0	0	0	1	0	15308	608	21	0	419	0	ST3GAL5	2	86073500	Splice_Site	INS	-	TCGA-BB-7871-01A-11D-2229-08	10191122	86073500	157125873	79	8957											
ZNF514	84874	broad.mit.edu	37	chr2	95818878	95818878	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttggagggcttgtgctcacCcagaatggccaagttcctga	8	11	12	10	0	1	2	1	1	0	1	2	3	2	3	3	3	1	3	3	3	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:95818878C>A	ENST00000295208.2	-	3	583	c.121_splice	c.e3+1	p.G41_splice	ZNF514_ENST00000411425.1_Splice_Site_p.G41_splice	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TTGTGCTCACCCAGAATGGCC	0.547													29	58					8.88839e-20	1.21488e-19	1	0	A	95818878	C	A	95818878	5	1	47	1	0	0	0	0	0	0	1	0	18054	637	22	4	1093	4	ZNF514	2	95818878	Splice_Site	SNP	C	TCGA-BB-7871-01A-11D-2229-08	9745378	95818878	147380495	80	8958											
ASTL	431705	broad.mit.edu	37	chr2	96803335	96803335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttggttaattgcaggaatgtCcttgtccccggaggcctggg	6	12	14	9	1	0	0	0	0	0	0	2	2	2	2	4	5	1	2	4	5	2	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:96803335C>T	ENST00000342380.2	-	2	159	c.160G>A	c.(160-162)Gac>Aac	p.D54N		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	54					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GCAGGAATGTCCTTGTCCCCG	0.587													53	127					0	0	0	0	T	96803335	C	T	96803335	3	4	47	1	0	0	0	0	1	0	0	0	1067	855	30	2	1166	2	ASTL	2	96803335	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	984457	96803335	146396038	81	8959											
FBLN7	129804	broad.mit.edu	37	chr2	112933379	112933379	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcatttgtcctccaggAaggactgggaaccgctgtca	10	9	12	10	1	1	1	1	0	0	1	3	4	3	4	3	3	2	2	3	3	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:112933379A>G	ENST00000331203.2	+	4	766	c.495A>G	c.(493-495)ggA>ggG	p.G165G	FBLN7_ENST00000409450.3_Silent_p.G165G|FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409903.1_Silent_p.G165G|FBLN7_ENST00000409667.3_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	165	EGF-like 1; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GTCCTCCAGGAAGGACTGGGA	0.527													16	62					0	0	0	0	G	112933379	A	G	112933379	2	3	47	1	0	0	0	0	0	0	0	1	5746	233	9	5		5	FBLN7	2	112933379	Silent	SNP	A	TCGA-BB-7871-01A-11D-2229-08	16130044	112933379	130265994	82	8960											
RGPD8	727851	broad.mit.edu	37	chr2	113147642	113147642	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacttgtttggccaaaaatCacaccacggcccttcttccg	9	11	6	15	2	2	0	1	0	1	0	3	0	3	0	4	2	1	1	4	2	3	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:113147642C>G	ENST00000302558.3	-	20	3071	c.2880G>C	c.(2878-2880)gtG>gtC	p.V960V	RGPD8_ENST00000409750.1_Silent_p.V820V	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GGCCAAAAATCACACCACGGC	0.423													62	210					0	0	0	0	G	113147642	C	G	113147642	2	3	47	1	0	0	0	0	0	0	0	1	13373	813	29	2		2	RGPD8	2	113147642	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	214263	113147642	130051731	83	8961											
ZEB2	9839	broad.mit.edu	37	chr2	145161496	145161496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccacctgatctgtccctGgcttgtgtgtcaccatatgc	5	12	8	16	0	2	1	1	1	1	0	3	1	3	1	5	1	1	1	5	1	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:145161496G>T	ENST00000558170.2	-	6	1978	c.794C>A	c.(793-795)cCa>cAa	p.P265Q	ZEB2_ENST00000409487.3_Missense_Mutation_p.P265Q|ZEB2_ENST00000539609.3_Missense_Mutation_p.P241Q|ZEB2_ENST00000303660.4_Missense_Mutation_p.P265Q	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	265						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATCTGTCCCTGGCTTGTGTGT	0.448													27	76					7.38237e-10	8.81939e-10	1	0	T	145161496	G	T	145161496	3	4	47	1	0	0	0	0	1	0	0	0	17719	1348	47	4	2870	4	ZEB2	2	145161496	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	32013854	145161496	98037877	84	8962											
KIF5C	3800	broad.mit.edu	37	chr2	149840154	149840154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actacattgacaaccacacaGagagagctgagccagctaca	16	5	8	12	0	0	4	0	2	0	2	0	5	0	4	2	0	6	2	2	0	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:149840154G>A	ENST00000435030.1	+	15	1958	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.Q298Q|KIF5C_ENST00000414838.2_Silent_p.Q435Q			O60282	KIF5C_HUMAN	kinesin family member 5C	530					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.Q530H(1)|p.Q433H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CAACCACACAGAGAGAGCTGA	0.413													12	22					0	0	0	0	A	149840154	G	A	149840154	2	1	47	1	0	0	0	0	0	0	0	1	8358	933	33	2		2	KIF5C	2	149840154	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	4678658	149840154	93359219	85	8963											
GALNT13	114805	broad.mit.edu	37	chr2	155102461	155102461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgttccccaaagagaaatgGacaggaggaaaggagacaga	17	4	13	7	0	0	3	0	0	0	3	1	8	1	6	2	4	0	1	2	4	3	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:155102461G>T	ENST00000392825.3	+	7	1390	c.823G>T	c.(823-825)Gac>Tac	p.D275Y	GALNT13_ENST00000409237.1_Missense_Mutation_p.D275Y	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	275						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGAGAAATGGACAGGAGGAA	0.373													10	39					1.08611e-07	1.22948e-07	1	0	T	155102461	G	T	155102461	3	4	47	1	0	0	0	0	1	0	0	0	6260	1174	41	2	841	2	GALNT13	2	155102461	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	5262307	155102461	88096912	86	8964											
GALNT5	11227	broad.mit.edu	37	chr2	158114943	158114943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaagaaaaatgcagaatGccctgggaaggggcaaggtt	15	5	16	5	0	0	2	0	0	0	2	0	4	0	4	1	5	2	3	1	5	6	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:158114943G>A	ENST00000259056.4	+	1	834	c.349G>A	c.(349-351)Gcc>Acc	p.A117T		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	117					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AATGCAGAATGCCCTGGGAAG	0.532													26	66					0	0	0	0	A	158114943	G	A	158114943	3	1	47	1	0	0	0	0	1	0	0	0	6265	1319	46	4	351	4	GALNT5	2	158114943	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	3012482	158114943	85084430	87	8965											
GCA	25801	broad.mit.edu	37	chr2	163216037	163216037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagagaccacttgcaacaagGgtctgcgaatttcatatatg	14	10	9	8	1	2	1	1	0	1	1	2	3	2	1	1	1	3	1	1	1	6	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:163216037G>T	ENST00000437150.2	+	7	763	c.602G>T	c.(601-603)gGg>gTg	p.G201V	GCA_ENST00000429691.2_Intron|GCA_ENST00000233612.4_Missense_Mutation_p.G182V	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	201					cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						TTGCAACAAGGGTCTGCGAAT	0.294													5	26					0.000602214	0.000624149	1	0	T	163216037	G	T	163216037	3	4	47	1	0	0	0	0	1	0	0	0	6332	1232	43	4	628	4	GCA	2	163216037	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	5101094	163216037	79983336	88	8966											
SCN3A	6328	broad.mit.edu	37	chr2	166020403	166020403	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttacaaattctgttacataCctgcagaattaaatcagagt	15	13	5	8	0	2	2	1	0	1	2	2	2	2	2	1	0	4	2	1	0	7	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:166020403C>G	ENST00000360093.3	-	7	1094	c.602_splice	c.e7-1	p.A201_splice	SCN3A_ENST00000409101.3_Splice_Site_p.A201_splice|SCN3A_ENST00000283254.7_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	201						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTGTTACATACCTGCAGAATT	0.373													14	10					0	0	0	0	G	166020403	C	G	166020403	5	3	47	1	0	0	0	0	0	0	1	0	14005	521	18	4	5583	4	SCN3A	2	166020403	Splice_Site	SNP	C	TCGA-BB-7871-01A-11D-2229-08	2804366	166020403	77178970	89	8967											
SCN2A	6326	broad.mit.edu	37	chr2	166210904	166210904	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttagatgaaattaaacCgcttgaagatctaaataata	18	12	6	5	1	1	4	0	2	1	2	1	4	1	4	1	0	2	2	1	0	9	7			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:166210904C>A	ENST00000357398.3	+	17	3412	c.3122C>A	c.(3121-3123)cCg>cAg	p.P1041Q	SCN2A_ENST00000375427.2_Missense_Mutation_p.P1041Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.P1041Q|SCN2A_ENST00000375437.2_Missense_Mutation_p.P1041Q			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1041					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAAATTAAACCGCTTGAAGAT	0.338													23	44					2.89027e-11	3.55463e-11	1	0	A	166210904	C	A	166210904	3	1	47	1	0	0	0	0	1	0	0	0	14003	652	23	3	3280	3	SCN2A	2	166210904	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	190501	166210904	76988469	90	8968											
SCN7A	6332	broad.mit.edu	37	chr2	167273291	167273291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttcccatagcatggattCgttaaacagaaggctttcac	12	13	7	9	1	1	1	1	0	0	1	3	2	2	2	1	2	2	3	1	2	4	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:167273291C>T	ENST00000409855.1	-	20	3466	c.3340G>A	c.(3340-3342)Gaa>Aaa	p.E1114K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1114					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGCATGGATTCGTTAAACAGA	0.378													3	17					0	0	0	0	T	167273291	C	T	167273291	3	4	47	1	0	0	0	0	1	0	0	0	14010	893	31	1	1732	1	SCN7A	2	167273291	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1062387	167273291	75926082	91	8969											
FASTKD1	79675	broad.mit.edu	37	chr2	170419780	170419781	+	Frame_Shift_Ins	INS	-	-	T																															cctatgaacaatatcagctaINStttttcccattaatggacta																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:170419780_170419781insT	ENST00000453153.2	-	4	872_873	c.526_527insA	c.(526-528)agcfs	p.S176fs	FASTKD1_ENST00000453929.2_Frame_Shift_Ins_p.S176fs	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	176					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AATATCAGCTATTTTTCCCATT	0.351													9	44	---	---	---	---					T	170419781	-	T	170419780	7	5	47	1	0	1	1	0	0	0	0	0	5730	449	16	0	2064	0	FASTKD1	2	170419780	Frame_Shift_Ins	INS	-	TCGA-BB-7871-01A-11D-2229-08	3146489	170419780	72779593	92	8970											
HOXD12	3238	broad.mit.edu	37	chr2	176965471	176965471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtggtgcttcgggagcagGcgctggcgctctactagccg	4	8	17	12	5	1	0	0	0	1	0	2	1	1	1	1	4	4	4	1	4	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:176965471G>A	ENST00000406506.2	+	2	868	c.796G>A	c.(796-798)Gcg>Acg	p.A266T	HOXD12_ENST00000404162.2_3'UTR			P35452	HXD12_HUMAN	homeobox D12	266						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TCGGGAGCAGGCGCTGGCGCT	0.592													8	26					0	0	0	0	A	176965471	G	A	176965471	3	1	47	1	0	0	0	0	1	0	0	0	7371	1203	42	4	802	4	HOXD12	2	176965471	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	6545691	176965471	66233902	93	8971											
HOXD10	3236	broad.mit.edu	37	chr2	176981711	176981711	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacctatggaatgcaaacCtgtggactgctcccgtctct	8	10	11	12	1	1	0	0	0	1	0	3	3	2	3	3	3	3	2	3	3	3	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:176981711C>A	ENST00000249501.4	+	1	405	c.150C>A	c.(148-150)acC>acA	p.T50T	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	50						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GAATGCAAACCTGTGGACTGC	0.493													26	86					4.59853e-10	5.5253e-10	1	0	A	176981711	C	A	176981711	2	1	47	1	0	0	0	0	0	0	0	1	7369	668	24	4		4	HOXD10	2	176981711	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	16240	176981711	66217662	94	8972											
HOXD1	3231	broad.mit.edu	37	chr2	177054082	177054082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagaccgcatccccggccCcaggcacctaccccaagtcc	8	4	7	22	2	0	1	0	0	0	1	3	1	3	1	10	2	1	2	10	2	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:177054082C>A	ENST00000331462.4	+	1	776	c.553C>A	c.(553-555)Cca>Aca	p.P185T		NM_024501.1	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	185						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		ATCCCCGGCCCCAGGCACCTA	0.637													9	29					0.000274275	0.00028616	1	0	A	177054082	C	A	177054082	3	1	47	1	0	0	0	0	1	0	0	0	7368	623	22	4	555	4	HOXD1	2	177054082	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	72371	177054082	66145291	95	8973											
PDE11A	50940	broad.mit.edu	37	chr2	178936874	178936874	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggcccagctgggactcaaGggaaccccaccacagtcccc	9	3	10	19	1	1	0	1	0	0	0	2	2	2	2	7	3	2	1	7	3	2	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:178936874G>T	ENST00000286063.5	-	1	608	c.291C>A	c.(289-291)ccC>ccA	p.P97P	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	97					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TGGGACTCAAGGGAACCCCAC	0.647									Primary Pigmented Nodular Adrenocortical Disease, Familial				12	36					4.36969e-10	5.26044e-10	1	0	T	178936874	G	T	178936874	2	4	47	1	0	0	0	0	0	0	0	1	11702	987	35	4		4	PDE11A	2	178936874	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1882792	178936874	64262499	96	8974											
TTN	7273	broad.mit.edu	37	chr2	179439995	179439995	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgctccttgacaatgaCgggtctgctttctctagggg	5	14	12	10	1	3	2	0	2	3	0	5	2	4	2	1	3	2	2	1	3	2	3	rs72646892		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179439995C>G	ENST00000589042.1	-	326	71088	c.70864G>C	c.(70864-70866)Gtc>Ctc	p.V23622L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V14682L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V14557L|TTN_ENST00000342992.6_Missense_Mutation_p.V21054L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V14749L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V21981L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21981	Fibronectin type-III 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V21052I(1)|p.V14749I(1)|p.V14557I(1)|p.V14682I(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)			TTGACAATGACGGGTCTGCTT	0.478													10	24					0	0	0	0	G	179439995	C	G	179439995	3	3	47	1	0	0	0	0	1	0	0	0	16831	536	19	3	37263	3	TTN	2	179439995	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	503121	179439995	63759378	97	8975											
TTN	7273	broad.mit.edu	37	chr2	179466434	179466434	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtcctgctttattcttGgctgtgatgctgtatttgcc	3	21	9	8	0	1	1	0	1	1	0	2	1	2	1	2	1	3	4	2	1	2	8			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179466434G>A	ENST00000589042.1	-	286	55607	c.55383C>T	c.(55381-55383)gcC>gcT	p.A18461A	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.A9521A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.A9396A|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.A15893A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.A9588A|TTN_ENST00000591111.1_Silent_p.A16820A|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16820	Ig-like 106.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTATTCTTGGCTGTGATGC	0.353													15	58					0	0	0	0	A	179466434	G	A	179466434	2	1	47	1	0	0	0	0	0	0	0	1	16831	1335	47	4		4	TTN	2	179466434	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	26439	179466434	63732939	98	8976											
TTN	7273	broad.mit.edu	37	chr2	179469993	179469993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgatagtgtctcctcgaaCactcagacgcaacttaatag	12	12	7	10	2	2	2	1	1	1	1	4	3	2	2	1	0	2	1	1	0	5	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179469993C>T	ENST00000589042.1	-	280	54135	c.53911G>A	c.(53911-53913)Gtt>Att	p.V17971I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9031I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8906I|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15403I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9098I|TTN_ENST00000591111.1_Missense_Mutation_p.V16330I|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16330	Fibronectin type-III 30.						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)			TCTCCTCGAACACTCAGACGC	0.418													8	16					0	0	0	0	T	179469993	C	T	179469993	3	4	47	1	0	0	0	0	1	0	0	0	16831	478	17	4	54114	4	TTN	2	179469993	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	3559	179469993	63729380	99	8977											
TTN	7273	broad.mit.edu	37	chr2	179489296	179489296	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taacaagttttctgaccctgCcatcagcaacaatttcatac	13	12	4	12	0	3	1	2	1	1	0	3	1	3	1	2	0	5	2	2	0	5	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179489296C>G	ENST00000589042.1	-	242	44935	c.44711G>C	c.(44710-44712)gGc>gCc	p.G14904A	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5964A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G5839A|TTN_ENST00000342992.6_Missense_Mutation_p.G12336A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G6031A|TTN_ENST00000591111.1_Missense_Mutation_p.G13263A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13263							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)			TCTGACCCTGCCATCAGCAAC	0.393													20	57					0	0	0	0	G	179489296	C	G	179489296	3	3	47	1	0	0	0	0	1	0	0	0	16831	739	26	4	63466	4	TTN	2	179489296	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	19303	179489296	63710077	100	8978											
TTN	7273	broad.mit.edu	37	chr2	179584424	179584424	+	Frame_Shift_Del	DEL	T	T	-																															atgtaatgtgatgtttgctgTctgcagacaattctcttcca																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179584424delT	ENST00000589042.1	-	82	24019	c.23795delA	c.(23794-23796)gcfs	p.D7932fs	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.D6688fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.D7615fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7615	Ig-like 61.						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)			ATGTTTGCTGTCTGCAGACAA	0.403													27	87	---	---	---	---					-	179584424	T	-	179584424	7	5	47	1	0	1	0	1	0	0	0	0	16831	1667	58	0	80858	0	TTN	2	179584424	Frame_Shift_Del	DEL	T	TCGA-BB-7871-01A-11D-2229-08	95128	179584424	63614949	101	8979											
TTN	7273	broad.mit.edu	37	chr2	179584473	179584473	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacttggctgagagttctgGtgttccagtcactacacact	8	12	9	12	0	2	1	1	1	1	1	3	2	3	1	2	2	1	3	2	2	1	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179584473G>C	ENST00000589042.1	-	82	23970	c.23746C>G	c.(23746-23748)Cca>Gca	p.P7916A	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6672A|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P7599A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7599	Ig-like 61.						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)			GAGAGTTCTGGTGTTCCAGTC	0.418													15	58					0	0	0	0	C	179584473	G	C	179584473	3	2	47	1	0	0	0	0	1	0	0	0	16831	1261	44	4	80907	4	TTN	2	179584473	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	49	179584473	63614900	102	8980											
TTN	7273	broad.mit.edu	37	chr2	179597007	179597007	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaccagttactttgcaggcTagctgggtggcatctccctt	6	13	11	11	0	1	0	0	0	1	0	2	0	1	0	2	3	4	6	2	3	3	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179597007T>A	ENST00000589042.1	-	57	16913	c.16689A>T	c.(16687-16689)ctA>ctT	p.L5563L	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.L4319L|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.L5246L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5246	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGCAGGCTAGCTGGGTGG	0.408													38	100					0	0	0	0	A	179597007	T	A	179597007	2	1	47	1	0	0	0	0	0	0	0	1	16831	1509	53	5		5	TTN	2	179597007	Silent	SNP	T	TCGA-BB-7871-01A-11D-2229-08	12534	179597007	63602366	103	8981											
TTN	7273	broad.mit.edu	37	chr2	179598042	179598042	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgtattggccactgtcGtgcagctcagctgaataaaa	12	11	10	8	1	1	1	1	1	0	0	2	1	1	1	1	1	3	4	1	1	5	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179598042G>A	ENST00000589042.1	-	54	16202	c.15978C>T	c.(15976-15978)caC>caT	p.H5326H	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.H4082H|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.H5009H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5009	Ig-like 34.						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)			GGCCACTGTCGTGCAGCTCAG	0.398													27	45					0	0	0	0	A	179598042	G	A	179598042	2	1	47	1	0	0	0	0	0	0	0	1	16831	1136	40	1		1	TTN	2	179598042	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1035	179598042	63601331	104	8982											
TTN	7273	broad.mit.edu	37	chr2	179599474	179599474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctatcactgccgacGtcattcactgcttcacatga	9	11	7	14	2	4	1	4	1	0	0	4	2	4	1	1	0	4	3	1	0	1	3	rs74607159	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179599474G>T	ENST00000589042.1	-	51	15401	c.15177C>A	c.(15175-15177)gaC>gaA	p.D5059E	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D3815E|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D4742E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4742	Ig-like 31.						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)			CACTGCCGACGTCATTCACTG	0.368													39	103					6.21074e-16	8.15078e-16	1	0	T	179599474	G	T	179599474	3	4	47	1	0	0	0	0	1	0	0	0	16831	1136	40	3	89600	3	TTN	2	179599474	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1432	179599474	63599899	105	8983											
TTN	7273	broad.mit.edu	37	chr2	179605073	179605073	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttacctccttctgtgcatGagtgttctgaagggactagg	7	15	11	8	0	2	2	0	2	2	0	3	3	3	3	2	2	2	2	2	2	3	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179605073G>T	ENST00000589042.1	-	48	13111	c.12887C>A	c.(12886-12888)tCa>tAa	p.S4296*	TTN_ENST00000359218.5_Nonsense_Mutation_p.S4058*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S3933*|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Nonsense_Mutation_p.S4125*|TTN_ENST00000591111.1_Nonsense_Mutation_p.S3979*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3979	Ig-like 23.						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)			TTCTGTGCATGAGTGTTCTGA	0.463													11	40					4.68919e-08	5.35663e-08	1	0	T	179605073	G	T	179605073	4	4	47	1	0	0	0	0	0	1	0	0	16831	1294	45	2	91902	2	TTN	2	179605073	Nonsense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	5599	179605073	63594300	106	8984											
TTN	7273	broad.mit.edu	37	chr2	179615464	179615464	+	Frame_Shift_Del	DEL	T	T	-																															tttcttcactttcttcaacaTttacaagtgtaccaaaagat																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179615464delT	ENST00000360870.5	-	46	11885	c.11663delA	c.(11662-11664)atfs	p.N3888fs	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9712							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)			TTCTTCAACATTTACAAGTGT	0.353													15	33	---	---	---	---					-	179615464	T	-	179615464	7	5	47	1	0	1	0	1	0	0	0	0	16831	1493	52	0	98634	0	TTN	2	179615464	Frame_Shift_Del	DEL	T	TCGA-BB-7871-01A-11D-2229-08	10391	179615464	63583909	107	8985											
TTN	7273	broad.mit.edu	37	chr2	179638712	179638712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgtcactgggctgcaCttcttggccgtctttcatcc	5	13	8	15	1	4	0	2	0	2	0	5	0	5	0	3	2	2	2	3	2	1	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:179638712C>A	ENST00000589042.1	-	31	7407	c.7183G>T	c.(7183-7185)Gtg>Ttg	p.V2395L	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V2349L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V2349L|TTN_ENST00000342992.6_Missense_Mutation_p.V2395L|TTN_ENST00000360870.5_Missense_Mutation_p.V2395L|TTN_ENST00000342175.6_Missense_Mutation_p.V2349L|TTN_ENST00000591111.1_Missense_Mutation_p.V2395L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2118	Ig-like 13.						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)			CTGGGCTGCACTTCTTGGCCG	0.438													18	61					3.32936e-07	3.75528e-07	1	0	A	179638712	C	A	179638712	3	1	47	1	0	0	0	0	1	0	0	0	16831	565	20	4	104133	4	TTN	2	179638712	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	23248	179638712	63560661	108	8986											
ITGA4	3676	broad.mit.edu	37	chr2	182392025	182392025	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaatttgtttttaccaggTttgtaaacccaacttcattt	10	19	5	7	0	1	1	1	1	0	0	1	1	1	1	2	1	3	3	2	1	5	9			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:182392025T>A	ENST00000397033.2	+	22	2771	c.2339_splice	c.e22-1	p.F781_splice		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	781					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTTTACCAGGTTTGTAAACCC	0.308													8	23					0	0	0	0	A	182392025	T	A	182392025	5	1	47	1	0	0	0	0	0	0	1	0	7931	1739	60	5	2427	5	ITGA4	2	182392025	Splice_Site	SNP	T	TCGA-BB-7871-01A-11D-2229-08	2753313	182392025	60807348	109	8987											
ZSWIM2	151112	broad.mit.edu	37	chr2	187698683	187698683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatactgtacctcacgaaatGtaaacgtgtgggaaagatgg	14	9	12	6	2	1	1	1	0	0	1	1	4	1	2	1	2	3	2	1	2	6	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:187698683G>A	ENST00000295131.2	-	6	857	c.818C>T	c.(817-819)aCa>aTa	p.T273I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	273					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTCACGAAATGTAAACGTGTG	0.363													10	38					0	0	0	0	A	187698683	G	A	187698683	3	1	47	1	0	0	0	0	1	0	0	0	18332	1377	48	4	1099	4	ZSWIM2	2	187698683	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	5306658	187698683	55500690	110	8988											
COL5A2	1290	broad.mit.edu	37	chr2	189962026	189962026	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccttttggccctcgctCtcctcttggtccctgtgatc	1	17	7	16	1	3	1	0	1	3	0	8	1	5	1	4	2	0	1	4	2	0	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:189962026C>A	ENST00000374866.3	-	6	707	c.433G>T	c.(433-435)Gag>Tag	p.E145*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	145					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGCCCTCGCTCTCCTCTTGGT	0.428													14	46					1.49906e-05	1.61517e-05	1	0	A	189962026	C	A	189962026	4	1	47	1	0	0	0	0	0	1	0	0	3727	922	32	2	4262	2	COL5A2	2	189962026	Nonsense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	2263343	189962026	53237347	111	8989											
SATB2	23314	broad.mit.edu	37	chr2	200246504	200246504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgcatctgtcacataaCtgagggggagagggttccac	9	8	15	9	1	2	2	1	1	1	1	3	3	3	2	1	4	2	2	1	4	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:200246504C>A	ENST00000443023.1	-	3	1674	c.209G>T	c.(208-210)aGt>aTt	p.S70I	SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000260926.5_Missense_Mutation_p.S129I|SATB2_ENST00000417098.1_Missense_Mutation_p.S129I|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000457245.1_Missense_Mutation_p.S129I			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	129						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTCACATAACTGAGGGGGAG	0.438													21	35					7.41877e-09	8.64833e-09	1	0	A	200246504	C	A	200246504	3	1	47	1	0	0	0	0	1	0	0	0	13940	565	20	4	1847	4	SATB2	2	200246504	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	10284478	200246504	42952869	112	8990											
BZW1	9689	broad.mit.edu	37	chr2	201680428	201680428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatgacatgatgcgtacaGatgtctgcgtgtttgcagcc	9	11	12	9	2	1	4	0	2	1	2	1	4	1	4	1	0	5	3	1	0	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:201680428G>C	ENST00000409600.1	+	4	735	c.280G>C	c.(280-282)Gat>Cat	p.D94H	BZW1_ENST00000409226.1_Missense_Mutation_p.D98H|BZW1_ENST00000452790.2_Missense_Mutation_p.D126H	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						GATGCGTACAGATGTCTGCGT	0.388													4	7					0	0	0	0	C	201680428	G	C	201680428	3	2	47	1	0	0	0	0	1	0	0	0	1587	942	33	2	290	2	BZW1	2	201680428	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1433924	201680428	41518945	113	8991											
PTH2R	5746	broad.mit.edu	37	chr2	209308252	209308252	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggcaacttctgtggacaAatcacaatatgtaagtgttt	13	13	9	6	0	2	1	1	1	1	0	2	2	2	2	0	2	1	3	0	2	5	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:209308252A>G	ENST00000272847.2	+	6	902	c.689A>G	c.(688-690)aAa>aGa	p.K230R	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	230						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCTGTGGACAAATCACAATAT	0.363													18	54					0	0	0	0	G	209308252	A	G	209308252	3	3	47	1	0	0	0	0	1	0	0	0	12840	14	1	5	711	5	PTH2R	2	209308252	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	7627824	209308252	33891121	114	8992											
ERBB4	2066	broad.mit.edu	37	chr2	212578275	212578275	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccttttgggcaaatgtCagtgcaaggtttacacattt	10	14	8	9	0	2	0	2	0	0	0	2	0	2	0	1	2	2	3	1	2	3	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:212578275C>A	ENST00000342788.4	-	8	1292	c.982G>T	c.(982-984)Gac>Tac	p.D328Y	ERBB4_ENST00000402597.1_Missense_Mutation_p.D328Y|ERBB4_ENST00000436443.1_Missense_Mutation_p.D328Y	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	328	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGGCAAATGTCAGTGCAAGGT	0.373										TSP Lung(8;0.080)			9	18					1.12685e-05	1.23108e-05	1	0	A	212578275	C	A	212578275	3	1	47	1	0	0	0	0	1	0	0	0	5247	826	29	2	3028	2	ERBB4	2	212578275	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	3270023	212578275	30621098	115	8993											
PRKAG3	53632	broad.mit.edu	37	chr2	219692034	219692034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtacgttgcctgacaccGggtcaagaacaggcaggcga	11	5	15	10	3	1	2	1	1	0	1	1	4	1	3	2	4	3	3	2	4	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:219692034G>A	ENST00000439262.2	-	9	958	c.863C>T	c.(862-864)cCg>cTg	p.P288L	PRKAG3_ENST00000529249.1_Missense_Mutation_p.P313L|PRKAG3_ENST00000545803.1_Missense_Mutation_p.P129L|PRKAG3_ENST00000392098.3_Missense_Mutation_p.R298W	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	313	CBS 2.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	p.P313Q(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTGACACCGGGTCAAGAAC	0.582													9	33					0	0	0	0	A	219692034	G	A	219692034	3	1	47	1	0	0	0	0	1	0	0	0	12582	1116	39	1	551	1	PRKAG3	2	219692034	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	7113759	219692034	23507339	116	8994											
CCDC108	255101	broad.mit.edu	37	chr2	219868777	219868777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcctgggactcaggctgtgGtgtgggcccgatgcccgccc	3	8	15	15	2	1	0	1	0	0	0	2	2	2	1	4	4	1	1	4	4	0	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:219868777G>T	ENST00000341552.5	-	33	5535	c.5452C>A	c.(5452-5454)Cca>Aca	p.P1818T	CCDC108_ENST00000453220.1_Missense_Mutation_p.P1818T|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1818T|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1818	Glu-rich.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGGCTGTGGTGTGGGCCCG	0.572													62	184					3.8128e-34	5.47434e-34	1	0	T	219868777	G	T	219868777	3	4	47	1	0	0	0	0	1	0	0	0	2768	1261	44	4	337	4	CCDC108	2	219868777	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	176743	219868777	23330596	117	8995											
SPEG	10290	broad.mit.edu	37	chr2	220353896	220353896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccaaccgtgctgggcaggGgcccttcagcaactcttctg	6	9	12	14	1	3	0	1	0	2	0	3	0	3	0	3	3	5	3	3	3	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:220353896G>A	ENST00000312358.7	+	35	8402	c.8270G>A	c.(8269-8271)gGg>gAg	p.G2757E	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2757	Fibronectin type-III 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTGGGCAGGGGCCCTTCAGC	0.592													39	99					0	0	0	0	A	220353896	G	A	220353896	3	1	47	1	0	0	0	0	1	0	0	0	15126	1232	43	4	8420	4	SPEG	2	220353896	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	485119	220353896	22845477	118	8996											
SPHKAP	80309	broad.mit.edu	37	chr2	228884328	228884328	+	Missense_Mutation	SNP	T	T	A																															ctgactgcagattcctggggTaatgtggactgagattgaga																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:228884328T>A	ENST00000392056.3	-	7	1288	c.1242A>T	c.(1240-1242)ttA>ttT	p.L414F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L414F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	414						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATTCCTGGGGTAATGTGGACT	0.443													30	69					0	0	0	0	A	228884328	T	A	228884328	3	1	47	1	0	0	0	0	1	0	0	0	15138	1635	57	5	3884	5	SPHKAP	2	228884328	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	8530432	228884328	14315045	119	8997	83	2									
SPHKAP	80309	broad.mit.edu	37	chr2	228884330	228884330	+	Missense_Mutation	SNP	A	A	T																															gactgcagattcctggggtaAtgtggactgagattgagata																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:228884330A>T	ENST00000392056.3	-	7	1286	c.1240T>A	c.(1240-1242)Tta>Ata	p.L414I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L414I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	414						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCCTGGGGTAATGTGGACTGA	0.433													30	70					0	0	0	0	T	228884330	A	T	228884330	3	4	47	1	0	0	0	0	1	0	0	0	15138	98	4	5	3886	5	SPHKAP	2	228884330	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	2	228884330	14315043	120	8998	83	2									
TRIP12	9320	broad.mit.edu	37	chr2	230636255	230636255	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctccgggtagaagtactGaagatgactgagtgggaaga	12	9	14	6	1	0	6	0	3	0	3	2	7	2	7	2	2	1	2	2	2	5	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:230636255G>A	ENST00000283943.5	-	38	5741	c.5563C>T	c.(5563-5565)Cag>Tag	p.Q1855*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.Q1903*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.Q1585*	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1855					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TAGAAGTACTGAAGATGACTG	0.408													17	47					0	0	0	0	A	230636255	G	A	230636255	4	1	47	1	0	0	0	0	0	1	0	0	16651	1299	45	2	431	2	TRIP12	2	230636255	Nonsense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1751925	230636255	12563118	121	8999											
INPP5D	3635	broad.mit.edu	37	chr2	233986855	233986855	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaggttcttcaccaagctGgaccagctcatcgagtttta	10	12	9	10	1	3	1	2	1	1	0	4	3	3	2	2	2	2	4	2	2	2	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:233986855G>A	ENST00000359570.5	+	3	237	c.237G>A	c.(235-237)ctG>ctA	p.L79L	INPP5D_ENST00000538935.1_Silent_p.L79L|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	79	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCACCAAGCTGGACCAGCTCA	0.522													32	68					0	0	0	0	A	233986855	G	A	233986855	2	1	47	1	0	0	0	0	0	0	0	1	7809	1335	47	4		4	INPP5D	2	233986855	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	3350600	233986855	9212518	122	9000											
COL6A3	1293	broad.mit.edu	37	chr2	238267208	238267208	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctttctcctttctctcCtcgaggtcctttatcaccct	3	18	3	17	1	4	0	1	0	3	0	10	1	7	0	5	1	0	0	5	1	1	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:238267208C>A	ENST00000295550.4	-	21	6879	c.6427G>T	c.(6427-6429)Gga>Tga	p.G2143*	COL6A3_ENST00000472056.1_Nonsense_Mutation_p.G1536*|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.G1942*|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.G1943*|COL6A3_ENST00000409809.1_Nonsense_Mutation_p.G1937*|COL6A3_ENST00000353578.4_Nonsense_Mutation_p.G1937*	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2143	Collagen-like 2.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTTTCTCTCCTCGAGGTCCT	0.423													35	85					2.6416e-12	3.32057e-12	1	0	A	238267208	C	A	238267208	4	1	47	1	0	0	0	0	0	1	0	0	3731	690	24	4	3202	4	COL6A3	2	238267208	Nonsense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	4280353	238267208	4932165	123	9001											
ING5	84289	broad.mit.edu	37	chr2	242644114	242644114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaacttccagctgatGcgagagctggaccagaggac	12	5	14	10	1	0	4	0	1	0	3	1	8	1	7	2	3	4	2	2	3	1	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr2:242644114G>T	ENST00000313552.6	+	2	110	c.84G>T	c.(82-84)atG>atT	p.M28I	ING5_ENST00000406941.1_Missense_Mutation_p.M28I|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	28					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TCCAGCTGATGCGAGAGCTGG	0.532													19	78					5.3912e-06	5.93127e-06	1	0	T	242644114	G	T	242644114	3	4	47	1	0	0	0	0	1	0	0	0	7792	1319	46	4	90	4	ING5	2	242644114	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	4376906	242644114	555259	124	9002											
SETD5	55209	broad.mit.edu	37	chr3	9486800	9486800	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatacaaaaaaggaatcctaAtgctacagaactgccactcc	17	8	5	11	0	0	1	0	0	0	1	2	2	2	2	3	1	5	1	3	1	9	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:9486800A>C	ENST00000402466.1	+	13	1730	c.962A>C	c.(961-963)aAt>aCt	p.N321T	SETD5_ENST00000302463.6_Missense_Mutation_p.N321T|SETD5_ENST00000406341.1_Missense_Mutation_p.N419T|SETD5_ENST00000407969.1_Missense_Mutation_p.N438T|SETD5_ENST00000402198.1_Missense_Mutation_p.N419T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	419	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGGAATCCTAATGCTACAGAA	0.463													23	32					0	0	0	0	C	9486800	A	C	9486800	3	2	47	1	0	0	0	0	1	0	0	0	14221	101	4	5	1294	5	SETD5	3	9486800	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08		9486800	188535630	125	9003											
SCN5A	6331	broad.mit.edu	37	chr3	38622704	38622704	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgctgccgcaggagaccAcagcagaaatcccaggtggt	10	4	14	13	2	0	2	0	0	0	2	1	3	1	2	4	4	2	3	4	4	1	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:38622704A>G	ENST00000413689.1	-	17	3139	c.2946T>C	c.(2944-2946)tgT>tgC	p.C982C	SCN5A_ENST00000414099.2_Silent_p.C982C|SCN5A_ENST00000455624.2_Silent_p.C982C|SCN5A_ENST00000451551.2_Silent_p.C982C|SCN5A_ENST00000450102.2_Silent_p.C982C|SCN5A_ENST00000449557.2_Silent_p.C982C|SCN5A_ENST00000443581.1_Silent_p.C982C|SCN5A_ENST00000425664.1_Silent_p.C982C|SCN5A_ENST00000423572.2_Silent_p.C982C|SCN5A_ENST00000333535.4_Silent_p.C982C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	982					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCAGGAGACCACAGCAGAAAT	0.672													6	9					0	0	0	0	G	38622704	A	G	38622704	2	3	47	1	0	0	0	0	0	0	0	1	14009	157	6	5		5	SCN5A	3	38622704	Silent	SNP	A	TCGA-BB-7871-01A-11D-2229-08	29135904	38622704	159399726	126	9004											
LRRC2	79442	broad.mit.edu	37	chr3	46586628	46586628	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgccttgtgagagtgttccTttcaatcttgtccagaagcc	7	14	9	11	0	2	2	1	1	1	2	4	3	4	2	4	0	2	1	4	0	2	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:46586628T>C	ENST00000395905.3	-	3	633	c.241A>G	c.(241-243)Agg>Ggg	p.R81G	LRRC2_ENST00000296144.3_Missense_Mutation_p.R81G	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	81										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		AGAGTGTTCCTTTCAATCTTG	0.532													53	91					0	0	0	0	C	46586628	T	C	46586628	3	2	47	1	0	0	0	0	1	0	0	0	9040	1608	56	5	902	5	LRRC2	3	46586628	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	7963924	46586628	151435802	127	9005											
NBEAL2	23218	broad.mit.edu	37	chr3	47033974	47033974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccccacagctgtacctgCagtcccgggcgccccccgag	5	6	10	20	3	0	0	0	0	0	0	2	1	2	0	7	1	3	3	7	1	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:47033974C>A	ENST00000450053.3	+	10	1221	c.1042C>A	c.(1042-1044)Cag>Aag	p.Q348K	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.Q348K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	348							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCTGTACCTGCAGTCCCGGGC	0.637													10	8					2.68362e-12	3.35989e-12	1	0	A	47033974	C	A	47033974	3	1	47	1	0	0	0	0	1	0	0	0	10259	711	25	4	1080	4	NBEAL2	3	47033974	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	447346	47033974	150988456	128	9006											
COL7A1	1294	broad.mit.edu	37	chr3	48615932	48615932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggaggccctgttctccaCggaggcctggaagcccctgg	6	6	15	14	1	1	0	0	0	1	0	2	3	1	3	5	6	1	1	5	6	1	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:48615932C>T	ENST00000328333.8	-	63	5548	c.5441G>A	c.(5440-5442)cGt>cAt	p.R1814H	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1814H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1814	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGTTCTCCACGGAGGCCTGG	0.552													35	50					0	0	0	0	T	48615932	C	T	48615932	3	4	47	1	0	0	0	0	1	0	0	0	3734	536	19	1	3617	1	COL7A1	3	48615932	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1581958	48615932	149406498	129	9007											
CELSR3	1951	broad.mit.edu	37	chr3	48688839	48688839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcagttgggatcaaaacCtttgtgaacatcacagttgc	11	12	10	8	0	2	1	2	1	0	0	2	2	2	2	1	1	4	4	1	1	3	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:48688839C>G	ENST00000544264.1	-	14	6419	c.6139G>C	c.(6139-6141)Ggt>Cgt	p.G2047R	CELSR3_ENST00000164024.4_Missense_Mutation_p.G2047R			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2047	EGF-like 7; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGATCAAAACCTTTGTGAACA	0.577													20	39					0	0	0	0	G	48688839	C	G	48688839	3	3	47	1	0	0	0	0	1	0	0	0	3252	681	24	4	3887	4	CELSR3	3	48688839	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	72907	48688839	149333591	130	9008											
CELSR3	1951	broad.mit.edu	37	chr3	48689419	48689419	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacagccaggctccgcattCactcggtggctggggggtag	7	7	15	12	2	1	0	1	0	0	0	3	0	2	0	2	6	1	4	2	6	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:48689419C>T	ENST00000544264.1	-	12	6094	c.5814G>A	c.(5812-5814)gtG>gtA	p.V1938V	CELSR3_ENST00000164024.4_Silent_p.V1938V			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1938	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTCCGCATTCACTCGGTGGC	0.652													19	27					0	0	0	0	T	48689419	C	T	48689419	2	4	47	1	0	0	0	0	0	0	0	1	3252	813	29	2		2	CELSR3	3	48689419	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	580	48689419	149333011	131	9009											
USP19	10869	broad.mit.edu	37	chr3	49146549	49146549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagtcttggggcccccaggGacccaggggcccagacccct	6	4	13	18	0	1	1	0	0	1	1	1	2	1	2	7	5	0	0	7	5	0	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:49146549G>A	ENST00000434032.2	-	27	4313	c.4102C>T	c.(4102-4104)Ccc>Tcc	p.P1368S	USP19_ENST00000398892.3_Missense_Mutation_p.P1307S|USP19_ENST00000417901.1_Intron|USP19_ENST00000398888.2_Missense_Mutation_p.P1267S|USP19_ENST00000398896.1_Intron|USP19_ENST00000398898.2_Intron|USP19_ENST00000453664.1_Intron	NM_001199160.1	NP_001186089.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1267					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCCCCCAGGGACCCAGGGGC	0.672													3	3					0	0	0	0	A	49146549	G	A	49146549	3	1	47	1	0	0	0	0	1	0	0	0	17146	1174	41	2	161	2	USP19	3	49146549	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	457130	49146549	148875881	132	9010											
RBM5	10181	broad.mit.edu	37	chr3	50127886	50127886	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatgggttcagacaaaaggTaagttactacagtacgtggc	14	9	11	7	1	1	1	1	0	0	1	1	1	1	1	0	3	3	4	0	3	7	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:50127886T>G	ENST00000347869.3	+	2	192		c.e2+2		RBM5_ENST00000469838.1_Splice_Site	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5						apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGACAAAAGGTAAGTTACTAC	0.358													23	44					0	0	0	0	G	50127886	T	G	50127886	5	3	47	1	0	0	0	0	0	0	1	0	13225	1652	57	5	21	5	RBM5	3	50127886	Splice_Site	SNP	T	TCGA-BB-7871-01A-11D-2229-08	981337	50127886	147894544	133	9011											
VPRBP	9730	broad.mit.edu	37	chr3	51450781	51450781	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgttcggaaggatgaccCaaaggggcttttcatcctct	11	11	10	9	1	2	1	1	1	1	0	4	3	3	3	2	4	0	2	2	4	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:51450781C>G	ENST00000335891.5	-	13	2653	c.2644G>C	c.(2644-2646)Ggg>Cgg	p.G882R				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1331					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AAGGATGACCCAAAGGGGCTT	0.428													8	10					0	0	0	0	G	51450781	C	G	51450781	3	3	47	1	0	0	0	0	1	0	0	0	17281	594	21	4	552	4	VPRBP	3	51450781	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1322895	51450781	146571649	134	9012											
PBRM1	55193	broad.mit.edu	37	chr3	52662995	52662995	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcattttcaaacattaaaTtcagatcacactccaaatga	16	12	4	9	0	3	2	3	1	0	1	4	2	4	2	1	1	1	1	1	1	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:52662995T>C	ENST00000356770.4	-	11	1264	c.1262A>G	c.(1261-1263)aAt>aGt	p.N421S	PBRM1_ENST00000410007.1_Missense_Mutation_p.N453S|PBRM1_ENST00000296302.7_Missense_Mutation_p.N453S|PBRM1_ENST00000409767.1_Missense_Mutation_p.N453S|PBRM1_ENST00000409057.1_Missense_Mutation_p.N453S|PBRM1_ENST00000409114.3_Missense_Mutation_p.N453S|PBRM1_ENST00000337303.4_Missense_Mutation_p.N453S|PBRM1_ENST00000394830.3_Missense_Mutation_p.N453S			Q86U86	PB1_HUMAN	polybromo 1	453	Bromo 3.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAACATTAAATTCAGATCACA	0.328			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								21	18					0	0	0	0	C	52662995	T	C	52662995	3	2	47	1	0	0	0	0	1	0	0	0	11562	1493	52	5	3618	5	PBRM1	3	52662995	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	1212214	52662995	145359435	135	9013											
EPHA6	285220	broad.mit.edu	37	chr3	96962794	96962794	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttttaattgcttttctctAgggccaccttcagctcctag	6	18	6	11	0	2	0	1	0	1	0	4	0	3	0	3	1	2	2	3	1	3	9			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:96962794A>T	ENST00000389672.5	+	5	1308		c.e5-1		EPHA6_ENST00000470610.2_Splice_Site	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6							integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GCTTTTCTCTAGGGCCACCTT	0.368													6	11					0	0	0	0	T	96962794	A	T	96962794	5	4	47	1	0	0	0	0	0	0	1	0	5209	434	15	5	1287	5	EPHA6	3	96962794	Splice_Site	SNP	A	TCGA-BB-7871-01A-11D-2229-08	44299799	96962794	101059636	136	9014											
FILIP1L	11259	broad.mit.edu	37	chr3	99567462	99567462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgatttctgttggttctgGggagcgtccctgctcaggag	5	13	14	9	1	3	1	1	1	2	0	4	3	4	3	1	4	2	3	1	4	0	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:99567462G>T	ENST00000331335.5	-	5	3528	c.3058C>A	c.(3058-3060)Cca>Aca	p.P1020T	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.P1020T|FILIP1L_ENST00000487087.1_Missense_Mutation_p.P596T|FILIP1L_ENST00000471562.1_Missense_Mutation_p.P780T|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P780T|FILIP1L_ENST00000476723.1_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1020						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GTTGGTTCTGGGGAGCGTCCC	0.512													41	111					3.3946e-10	4.09445e-10	1	0	T	99567462	G	T	99567462	3	4	47	1	0	0	0	0	1	0	0	0	5940	1232	43	4	378	4	FILIP1L	3	99567462	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2604668	99567462	98454968	137	9015											
SENP7	57337	broad.mit.edu	37	chr3	101117745	101117745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgtgagggtttagattttGataagattctaggctgccat	9	16	11	5	0	1	4	0	2	1	2	1	4	1	4	1	2	1	2	1	2	3	8			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:101117745G>C	ENST00000394095.2	-	6	690	c.637C>G	c.(637-639)Caa>Gaa	p.Q213E	SENP7_ENST00000394094.2_Intron|SENP7_ENST00000314261.7_Missense_Mutation_p.Q147E|SENP7_ENST00000394091.1_Intron|SENP7_ENST00000348610.3_Missense_Mutation_p.Q180E|SENP7_ENST00000358203.3_Intron	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	213					proteolysis	nucleus	cysteine-type peptidase activity	p.Q213E(1)|p.Q147E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTTAGATTTTGATAAGATTCT	0.353													17	98					0	0	0	0	C	101117745	G	C	101117745	3	2	47	1	0	0	0	0	1	0	0	0	14138	1299	45	2	2591	2	SENP7	3	101117745	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1550283	101117745	96904685	138	9016											
ZBTB11	27107	broad.mit.edu	37	chr3	101384101	101384101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagctactaattacattctCttttgaaagtttagggtgta	11	16	8	6	1	1	1	0	1	1	0	2	2	1	1	0	1	3	3	0	1	6	9			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:101384101C>T	ENST00000312938.4	-	4	1910	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATTACATTCTCTTTTGAAAGT	0.348													47	170					0	0	0	0	T	101384101	C	T	101384101	3	4	47	1	0	0	0	0	1	0	0	0	17619	922	32	2	1863	2	ZBTB11	3	101384101	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	266356	101384101	96638329	139	9017											
TMPRSS7	344805	broad.mit.edu	37	chr3	111797614	111797614	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggctccctcgttctgcaGcaagcggaggtagagctcat	10	8	12	11	2	2	1	1	0	1	1	4	2	3	2	1	3	4	6	1	3	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:111797614G>A	ENST00000452346.2	+	17	2253	c.2250G>A	c.(2248-2250)caG>caA	p.Q750Q	TMPRSS7_ENST00000419127.1_Silent_p.Q624Q			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	750	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCGTTCTGCAGCAAGCGGAGG	0.453													29	75					0	0	0	0	A	111797614	G	A	111797614	2	1	47	1	0	0	0	0	0	0	0	1	16346	962	34	4		4	TMPRSS7	3	111797614	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	10413513	111797614	86224816	140	9018											
KIAA2018	205717	broad.mit.edu	37	chr3	113374624	113374624	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaactgaagaattagcttGacgtacagcagggccttgat	12	9	13	7	1	0	4	0	3	0	1	0	5	0	5	1	2	4	3	1	2	5	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:113374624G>C	ENST00000316407.4	-	7	6315	c.5905C>G	c.(5905-5907)Caa>Gaa	p.Q1969E	KIAA2018_ENST00000478658.1_Missense_Mutation_p.Q1969E|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1969					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAATTAGCTTGACGTACAGCA	0.512													8	42					0	0	0	0	C	113374624	G	C	113374624	3	2	47	1	0	0	0	0	1	0	0	0	8319	1299	45	2	836	2	KIAA2018	3	113374624	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1577010	113374624	84647806	141	9019											
HGD	3081	broad.mit.edu	37	chr3	120363269	120363269	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtatcaagaaatcacgaGgattggccaagccattggcc	12	8	12	9	1	2	1	2	0	0	1	2	3	2	2	3	4	1	1	3	4	4	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:120363269G>C	ENST00000283871.5	-	10	1130	c.671C>G	c.(670-672)cCt>cGt	p.P224R		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	224					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GAAATCACGAGGATTGGCCAA	0.448													42	71					0	0	0	0	C	120363269	G	C	120363269	3	2	47	1	0	0	0	0	1	0	0	0	7134	1000	35	4	686	4	HGD	3	120363269	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	6988645	120363269	77659161	142	9020											
GOLGB1	2804	broad.mit.edu	37	chr3	121386956	121386956	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtcactctttctgtgaactCcattcttttcctggggagct	5	16	9	11	0	4	1	1	1	3	0	6	2	6	2	2	3	2	1	2	3	1	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:121386956C>G	ENST00000393667.3	-	19	9496	c.9386G>C	c.(9385-9387)gGa>gCa	p.G3129A	GOLGB1_ENST00000340645.5_Missense_Mutation_p.G3119A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	3119					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTGTGAACTCCATTCTTTTC	0.463													37	29					0	0	0	0	G	121386956	C	G	121386956	3	3	47	1	0	0	0	0	1	0	0	0	6613	855	30	2	439	2	GOLGB1	3	121386956	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1023687	121386956	76635474	143	9021											
ADCY5	111	broad.mit.edu	37	chr3	123023004	123023004	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccgcacgatcttcctggaGagggtctgcagtggggaggg	7	7	18	9	2	2	1	0	0	2	1	3	5	3	2	2	5	1	2	2	5	0	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:123023004G>C	ENST00000462833.1	-	13	3681	c.2469C>G	c.(2467-2469)ctC>ctG	p.L823L	ADCY5_ENST00000309879.5_Silent_p.L473L|ADCY5_ENST00000491190.1_Silent_p.L456L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	823					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCTTCCTGGAGAGGGTCTGCA	0.592													4	47					0	0	0	0	C	123023004	G	C	123023004	2	2	47	1	0	0	0	0	0	0	0	1	297	929	33	2		2	ADCY5	3	123023004	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1636048	123023004	74999426	144	9022											
COL6A6	131873	broad.mit.edu	37	chr3	130290069	130290069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgccacggcaaaggccttgCgggacaaaggcattcttgtc	10	8	12	11	2	1	0	0	0	1	0	2	1	1	1	2	4	2	2	2	4	2	3	rs111457392	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:130290069C>T	ENST00000358511.6	+	6	2840	c.2809C>T	c.(2809-2811)Cgg>Tgg	p.R937W	COL6A6_ENST00000453409.2_Missense_Mutation_p.R937W	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	937	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAAGGCCTTGCGGGACAAAGG	0.557													4	109					0	0	0	0	T	130290069	C	T	130290069	3	4	47	1	0	0	0	0	1	0	0	0	3733	759	27	1	2831	1	COL6A6	3	130290069	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	7267065	130290069	67732361	145	9023											
A4GNT	51146	broad.mit.edu	37	chr3	137843704	137843704	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtggagccagtttctcTctgcgctggcgttgatctgc	4	14	13	10	2	3	2	0	2	3	0	4	3	3	3	1	2	3	3	1	2	0	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:137843704T>A	ENST00000236709.3	-	3	626	c.425A>T	c.(424-426)gAg>gTg	p.E142V		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	142					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CCAGTTTCTCTCTGCGCTGGC	0.597													40	53					0	0	0	0	A	137843704	T	A	137843704	3	1	47	1	0	0	0	0	1	0	0	0	7	1551	54	5	601	5	A4GNT	3	137843704	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	7553635	137843704	60178726	146	9024											
ZIC1	7545	broad.mit.edu	37	chr3	147128358	147128358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgagcaggctgccggccaCgcgtcgcctaacgtggtcaa	8	5	13	15	6	1	0	1	0	0	0	2	1	1	0	3	3	3	2	3	3	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:147128358C>A	ENST00000282928.4	+	1	1188	c.459C>A	c.(457-459)caC>caA	p.H153Q		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	153					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTGCCGGCCACGCGTCGCCTA	0.711													11	44					1.58986e-06	1.76777e-06	1	0	A	147128358	C	A	147128358	3	1	47	1	0	0	0	0	1	0	0	0	17773	535	19	3	461	3	ZIC1	3	147128358	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	9284654	147128358	50894072	147	9025											
AGTR1	185	broad.mit.edu	37	chr3	148459701	148459701	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatttgtatagcttatttTaacaattgcctgaatcctct	11	17	4	9	0	1	1	0	1	1	0	2	1	2	1	3	0	3	2	3	0	6	7			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:148459701T>A	ENST00000542281.1	+	4	1325	c.879T>A	c.(877-879)ttT>ttA	p.F293L	AGTR1_ENST00000475347.1_Missense_Mutation_p.F293L|AGTR1_ENST00000404754.2_Missense_Mutation_p.F293L|AGTR1_ENST00000402260.1_Missense_Mutation_p.F293L|AGTR1_ENST00000349243.3_Missense_Mutation_p.F293L|AGTR1_ENST00000418473.2_Missense_Mutation_p.F293L|AGTR1_ENST00000461609.1_Missense_Mutation_p.F293L|AGTR1_ENST00000474935.1_Missense_Mutation_p.F293L|AGTR1_ENST00000497524.1_Missense_Mutation_p.F293L	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	293					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TAGCTTATTTTAACAATTGCC	0.363													66	65					0	0	0	0	A	148459701	T	A	148459701	3	1	47	1	0	0	0	0	1	0	0	0	401	1751	61	5	881	5	AGTR1	3	148459701	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	1331343	148459701	49562729	148	9026											
P2RY13	53829	broad.mit.edu	37	chr3	151046465	151046465	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgatgcccacatacaTggtctcataaaatatcaccg	14	8	6	13	2	2	0	2	0	1	0	3	1	2	0	2	1	3	1	2	1	4	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:151046465T>A	ENST00000325602.5	-	2	398	c.379A>T	c.(379-381)Atg>Ttg	p.M127L	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	127						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CCCACATACATGGTCTCATAA	0.423													19	109					0	0	0	0	A	151046465	T	A	151046465	3	1	47	1	0	0	0	0	1	0	0	0	11421	1464	51	5	689	5	P2RY13	3	151046465	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	2586764	151046465	46975965	149	9027											
PLCH1	23007	broad.mit.edu	37	chr3	155206460	155206460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catacctaccaggcactaagCtgctgaaggtcacagttctt	11	10	8	12	0	2	1	1	1	1	0	2	1	2	1	2	2	4	4	2	2	4	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:155206460C>T	ENST00000460012.1	-	20	2795	c.2438G>A	c.(2437-2439)aGc>aAc	p.S813N	PLCH1_ENST00000447496.2_Missense_Mutation_p.S831N|PLCH1_ENST00000414191.1_Missense_Mutation_p.S813N|PLCH1_ENST00000340059.7_Missense_Mutation_p.S831N|PLCH1_ENST00000334686.6_Missense_Mutation_p.S813N|PLCH1_ENST00000494598.1_Missense_Mutation_p.S831N			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	831	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGGCACTAAGCTGCTGAAGGT	0.423													13	61					0	0	0	0	T	155206460	C	T	155206460	3	4	47	1	0	0	0	0	1	0	0	0	12109	797	28	4	2624	4	PLCH1	3	155206460	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	4159995	155206460	42815970	150	9028											
IFT80	57560	broad.mit.edu	37	chr3	159976254	159976254	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagcaaccaaaacatgcttaCccttggttaatcagaacgtg	14	10	7	10	1	1	1	1	0	0	1	1	1	1	1	2	1	6	3	2	1	7	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:159976254C>A	ENST00000483754.1	-	18	3091		c.e18+1		IFT80_ENST00000483465.1_3'UTR|IFT80_ENST00000496589.1_3'UTR|IFT80_ENST00000326448.7_3'UTR																							AACATGCTTACCCTTGGTTAA	0.343													7	28					0.0293803	0.0296169	1	0	A	159976254	C	A	159976254	5	1	47	1	0	0	0	0	0	0	1	0	7617	522	18	4		4	IFT80	3	159976254	Splice_Site	SNP	C	TCGA-BB-7871-01A-11D-2229-08	4769794	159976254	38046176	151	9029											
SI	6476	broad.mit.edu	37	chr3	164709191	164709191	+	Frame_Shift_Del	DEL	A	A	-																															catggtaggatgtgaccaccAcggacatgtaggtttattgt																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:164709191delA	ENST00000264382.3	-	44	5120	c.5058delT	c.(5056-5058)cgfs	p.R1686fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1686	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTGACCACCACGGACATGTA	0.393										HNSCC(35;0.089)			17	173	---	---	---	---					-	164709191	A	-	164709191	7	5	47	1	0	1	0	1	0	0	0	0	14385	146	6	0	445	0	SI	3	164709191	Frame_Shift_Del	DEL	A	TCGA-BB-7871-01A-11D-2229-08	4732937	164709191	33313239	152	9030											
SI	6476	broad.mit.edu	37	chr3	164737429	164737429	+	Missense_Mutation	SNP	C	C	A																															gtgaacattccccaagtattCcagttcagatctcgcttaaa																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:164737429C>A	ENST00000264382.3	-	28	3446	c.3384G>T	c.(3382-3384)tgG>tgT	p.W1128C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1128	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCCAAGTATTCCAGTTCAGAT	0.438										HNSCC(35;0.089)			67	64					1.02487e-32	1.46477e-32	1	0	A	164737429	C	A	164737429	3	1	47	1	0	0	0	0	1	0	0	0	14385	856	30	2	2183	2	SI	3	164737429	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	28238	164737429	33285001	153	9031	84	2									
SI	6476	broad.mit.edu	37	chr3	164737430	164737430	+	Missense_Mutation	SNP	C	C	A																															tgaacattccccaagtattcCagttcagatctcgcttaaat																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:164737430C>A	ENST00000264382.3	-	28	3445	c.3383G>T	c.(3382-3384)tGg>tTg	p.W1128L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1128	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCAAGTATTCCAGTTCAGATC	0.438										HNSCC(35;0.089)			66	64					1.33661e-31	1.89732e-31	1	0	A	164737430	C	A	164737430	3	1	47	1	0	0	0	0	1	0	0	0	14385	595	21	4	2184	4	SI	3	164737430	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1	164737430	33285000	154	9032	84	2									
SI	6476	broad.mit.edu	37	chr3	164754255	164754255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcgactataagtcctagagGattcttacggctgttaagaa	12	12	10	7	2	1	2	0	0	1	2	2	4	2	3	1	2	2	2	1	2	6	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:164754255G>A	ENST00000264382.3	-	22	2499	c.2437C>T	c.(2437-2439)Cct>Tct	p.P813S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	813	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGTCCTAGAGGATTCTTACGG	0.348										HNSCC(35;0.089)			19	52					0	0	0	0	A	164754255	G	A	164754255	3	1	47	1	0	0	0	0	1	0	0	0	14385	1174	41	2	3154	2	SI	3	164754255	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	16825	164754255	33268175	155	9033											
MFN1	55669	broad.mit.edu	37	chr3	179103461	179103461	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattagtaacaggattggcGtccgttacatctagaacttc	12	12	8	9	2	1	1	0	0	1	1	3	2	2	2	1	2	3	2	1	2	5	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:179103461G>A	ENST00000471841.1	+	15	1893	c.1767G>A	c.(1765-1767)gcG>gcA	p.A589A	MFN1_ENST00000280653.7_Silent_p.A478A|MFN1_ENST00000263969.5_Silent_p.A589A	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	589					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CAGGATTGGCGTCCGTTACAT	0.403													25	189					0	0	0	0	A	179103461	G	A	179103461	2	1	47	1	0	0	0	0	0	0	0	1	9592	1132	40	1		1	MFN1	3	179103461	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	14349206	179103461	18918969	156	9034											
ABCC5	10057	broad.mit.edu	37	chr3	183645183	183645183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcccccactgagaagttatCcccattctccatcacttcag	9	12	4	16	0	3	1	2	1	1	1	6	2	5	1	5	0	0	1	5	0	2	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:183645183C>G	ENST00000334444.6	-	28	4222	c.3982G>C	c.(3982-3984)Gat>Cat	p.D1328H	ABCC5_ENST00000265586.6_Missense_Mutation_p.D1285H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1328	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAGAAGTTATCCCCATTCTCC	0.488													7	42					0	0	0	0	G	183645183	C	G	183645183	3	3	47	1	0	0	0	0	1	0	0	0	56	855	30	2	343	2	ABCC5	3	183645183	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	4541722	183645183	14377247	157	9035											
ADIPOQ	9370	broad.mit.edu	37	chr3	186570890	186570890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactgctattagctctgcccGgtcatgaccaggaaaccacg	10	9	9	13	2	2	1	1	1	1	0	2	2	2	2	3	2	5	2	3	2	4	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:186570890G>T	ENST00000412955.2	+	2	184	c.43G>T	c.(43-45)Ggt>Tgt	p.G15C	ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G15C|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G15C			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	15					brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity	p.G15C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		AGCTCTGCCCGGTCATGACCA	0.617													9	111					1.76689e-08	2.03697e-08	1	0	T	186570890	G	T	186570890	3	4	47	1	0	0	0	0	1	0	0	0	317	1116	39	3	45	3	ADIPOQ	3	186570890	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2925707	186570890	11451540	158	9036											
APOD	347	broad.mit.edu	37	chr3	195306283	195306283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaatgcttgtccctctgccGcaccgaagaggccagccagt	9	7	11	14	2	1	1	0	0	1	1	2	3	2	1	5	1	3	2	5	1	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:195306283G>T	ENST00000343267.3	-	2	411	c.50C>A	c.(49-51)gCg>gAg	p.A17E		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	17					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCCCTCTGCCGCACCGAAGAG	0.567													67	152					6.20203e-27	8.72466e-27	1	0	T	195306283	G	T	195306283	3	4	47	1	0	0	0	0	1	0	0	0	803	1087	38	3	535	3	APOD	3	195306283	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	8735393	195306283	2716147	159	9037											
LRCH3	84859	broad.mit.edu	37	chr3	197592342	197592342	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcacctgcaacagaaacaGgtaatagacacaaaggtgca	17	6	9	9	0	1	2	1	0	0	2	1	2	1	2	1	2	4	4	1	2	5	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr3:197592342G>C	ENST00000438796.2	+	16	1809	c.1765_splice	c.e16+1	p.V589_splice	LRCH3_ENST00000334859.4_Splice_Site_p.V589_splice|LRCH3_ENST00000441090.2_Splice_Site_p.V435_splice|LRCH3_ENST00000425562.2_Splice_Site_p.V589_splice|LRCH3_ENST00000536618.1_Splice_Site_p.V184_splice|LRCH3_ENST00000414675.2_Splice_Site_p.V537_splice			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	589						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AACAGAAACAGGTAATAGACA	0.299													7	41					0	0	0	0	C	197592342	G	C	197592342	5	2	47	1	0	0	0	0	0	0	1	0	8998	1014	35	4	1827	4	LRCH3	3	197592342	Splice_Site	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2286059	197592342	430088	160	9038											
KIAA1211	57482	broad.mit.edu	37	chr4	57182085	57182085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccaagccttccttaccCtccgcagaaagtggtggccc	7	9	9	16	1	0	1	0	0	0	1	3	1	3	1	6	2	2	1	6	2	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr4:57182085C>T	ENST00000504228.1	+	6	2522	c.2417C>T	c.(2416-2418)cCt>cTt	p.P806L	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P799L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P806L			Q6ZU35	K1211_HUMAN	KIAA1211	806										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTTCCTTACCCTCCGCAGAAA	0.592													22	31					0	0	0	0	T	57182085	C	T	57182085	3	4	47	1	0	0	0	0	1	0	0	0	8266	681	24	4	2435	4	KIAA1211	4	57182085	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08		57182085	133972191	161	9039											
EREG	2069	broad.mit.edu	37	chr4	75231040	75231040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgccgatgaccgcggggagGaggatggagatgctctgtgc	7	7	18	9	4	1	2	0	1	1	1	2	7	1	5	2	5	2	1	2	5	0	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr4:75231040G>A	ENST00000244869.2	+	1	181	c.15G>A	c.(13-15)agG>agA	p.R5R		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	5					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			CCGCGGGGAGGAGGATGGAGA	0.706													7	21					0	0	0	0	A	75231040	G	A	75231040	2	1	47	1	0	0	0	0	0	0	0	1	5258	1165	41	2		2	EREG	4	75231040	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	18048955	75231040	115923236	162	9040											
BMP2K	55589	broad.mit.edu	37	chr4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcgtcatcctcaccaGcagcagcagcagcagcagca	12	4	9	16	1	2	0	2	0	0	0	4	0	3	0	2	0	8	8	2	0	0	0	rs71828885		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577													3	37					0	0	0	0	C	79792085	G	C	79792085	3	2	47	1	0	0	0	0	1	0	0	0	1465	962	34	4	1422	4	BMP2K	4	79792085	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	4561045	79792085	111362191	163	9041											
GK2	2712	broad.mit.edu	37	chr4	80327926	80327926	+	Frame_Shift_Del	DEL	G	G	-																															cctgagaactgacaaagcctGgggttcaaggctccaaacgc																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr4:80327926delG	ENST00000358842.3	-	1	1446	c.1429delC	c.(1429-1431)agfs	p.Q477fs		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	477					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GACAAAGCCTGGGGTTCAAGG	0.483													30	67	---	---	---	---					-	80327926	G	-	80327926	7	5	47	1	0	1	0	1	0	0	0	0	6472	1357	47	0	236	0	GK2	4	80327926	Frame_Shift_Del	DEL	G	TCGA-BB-7871-01A-11D-2229-08	535841	80327926	110826350	164	9042											
GAR1	54433	broad.mit.edu	37	chr4	110737454	110737454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcaatttcagaggcggcgGcaggggaggatttggacgag	9	6	19	7	4	1	1	1	0	0	1	1	5	1	4	0	8	0	2	0	8	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr4:110737454G>T	ENST00000226796.6	+	2	398	c.134G>T	c.(133-135)gGc>gTc	p.G45V	GAR1_ENST00000394631.3_Missense_Mutation_p.G45V	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	45	RGG-box 1.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						agaggcggcggcaggggaggA	0.607													26	34					2.79863e-10	3.38213e-10	1	0	T	110737454	G	T	110737454	3	4	47	1	0	0	0	0	1	0	0	0	6289	1203	42	4	136	4	GAR1	4	110737454	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	30409528	110737454	80416822	165	9043											
FAT4	79633	broad.mit.edu	37	chr4	126411357	126411357	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccagactcgcacacgggaagGacctgtgagatggtggtggc	9	6	16	10	2	0	2	0	1	0	2	1	5	0	4	2	5	0	1	2	5	1	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr4:126411357G>C	ENST00000394329.3	+	17	13393	c.13380G>C	c.(13378-13380)agG>agC	p.R4460S	FAT4_ENST00000335110.5_Missense_Mutation_p.R2701S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4460	EGF-like 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACACGGGAAGGACCTGTGAGA	0.627													22	52					0	0	0	0	C	126411357	G	C	126411357	3	2	47	1	0	0	0	0	1	0	0	0	5737	1165	41	2	13446	2	FAT4	4	126411357	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	15673903	126411357	64742919	166	9044											
SPOCK3	50859	broad.mit.edu	37	chr4	167983653	167983653	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agattcttaccctgatcgaaGggttttcctggactccaagt	9	13	9	10	1	1	2	0	1	1	1	4	4	3	3	3	2	1	1	3	2	3	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr4:167983653G>T	ENST00000357154.3	-	4	371	c.234C>A	c.(232-234)ccC>ccA	p.P78P	SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000502330.1_Silent_p.P78P|SPOCK3_ENST00000512648.1_Silent_p.P75P|SPOCK3_ENST00000506886.1_Silent_p.P78P|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000421836.2_Silent_p.P27P|SPOCK3_ENST00000510741.1_Silent_p.P75P|SPOCK3_ENST00000511531.1_Silent_p.P78P|SPOCK3_ENST00000504953.1_Silent_p.P75P|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511269.1_Silent_p.P75P|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000357545.4_Silent_p.P75P	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	78					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CCTGATCGAAGGGTTTTCCTG	0.323													13	23					4.3838e-07	4.91803e-07	1	0	T	167983653	G	T	167983653	2	4	47	1	0	0	0	0	0	0	0	1	15171	987	35	4		4	SPOCK3	4	167983653	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	41572296	167983653	23170623	167	9045											
TERT	7015	broad.mit.edu	37	chr5	1282690	1282690	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagtgcaggaacttggcCaggatctcctcacgcagacg	10	6	12	13	2	2	1	1	0	1	1	3	3	2	3	3	3	3	2	3	3	1	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:1282690C>A	ENST00000310581.5	-	3	1680	c.1623G>T	c.(1621-1623)ctG>ctT	p.L541L	TERT_ENST00000296820.5_Silent_p.L541L|TERT_ENST00000334602.6_Silent_p.L541L|TERT_ENST00000508104.2_Silent_p.L541L	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	541	RNA-interacting domain 2.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|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)			GGAACTTGGCCAGGATCTCCT	0.547									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				20	34					6.44725e-10	7.73176e-10	1	0	A	1282690	C	A	1282690	2	1	47	1	0	0	0	0	0	0	0	1	15858	581	21	4		4	TERT	5	1282690	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08		1282690	179632570	168	9046											
ADCY2	108	broad.mit.edu	37	chr5	7773198	7773198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcctgggcgactacagcCaggtcttatttgagaggtga	9	10	13	9	2	1	2	0	2	1	1	2	4	2	2	2	3	2	0	2	3	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:7773198C>A	ENST00000338316.4	+	18	2457	c.2368C>A	c.(2368-2370)Cag>Aag	p.Q790K	ADCY2_ENST00000537121.1_Missense_Mutation_p.Q610K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	790					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGACTACAGCCAGGTCTTATT	0.502													20	34					0.00152264	0.00156258	1	0	A	7773198	C	A	7773198	3	1	47	1	0	0	0	0	1	0	0	0	294	595	21	4	2438	4	ADCY2	5	7773198	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	6490508	7773198	173142062	169	9047											
DNAH5	1767	broad.mit.edu	37	chr5	13830150	13830150	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttaccatggttaagaaaagCccaaattcagggttcatagt	14	11	8	8	0	2	1	2	0	0	1	2	1	2	1	2	2	2	2	2	2	6	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:13830150C>A	ENST00000265104.4	-	37	6338	c.6234G>T	c.(6232-6234)ggG>ggT	p.G2078G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2078	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAAGAAAAGCCCAAATTCAG	0.373									Kartagener syndrome				8	18					1.06961e-07	1.21741e-07	1	0	A	13830150	C	A	13830150	2	1	47	1	0	0	0	0	0	0	0	1	4641	726	26	4		4	DNAH5	5	13830150	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	6056952	13830150	167085110	170	9048											
PRDM9	56979	broad.mit.edu	37	chr5	23524457	23524457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccaggtatgtgaactgtgCccgggatgatgaagagcaga	11	7	14	9	1	0	5	0	3	0	2	0	6	0	6	3	2	3	2	3	2	3	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:23524457C>A	ENST00000296682.3	+	10	1147	c.965C>A	c.(964-966)gCc>gAc	p.A322D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	322	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTGAACTGTGCCCGGGATGAT	0.537										HNSCC(3;0.000094)			10	24					0.000673444	0.00069682	1	0	A	23524457	C	A	23524457	3	1	47	1	0	0	0	0	1	0	0	0	12543	739	26	4	999	4	PRDM9	5	23524457	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	9694307	23524457	157390803	171	9049											
CDH9	1007	broad.mit.edu	37	chr5	26885787	26885787	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgctcaggccggctgaaagGatcagggcttctgcggtgca	7	8	16	10	2	3	1	2	1	1	0	3	2	3	2	1	5	3	4	1	5	1	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:26885787G>T	ENST00000231021.4	-	11	1990	c.1818C>A	c.(1816-1818)atC>atA	p.I606I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	606	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CGGCTGAAAGGATCAGGGCTT	0.502													9	19					3.86212e-05	4.11872e-05	1	0	T	26885787	G	T	26885787	2	4	47	1	0	0	0	0	0	0	0	1	3146	1164	41	2		2	CDH9	5	26885787	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	3361330	26885787	154029473	172	9050											
ZFR	51663	broad.mit.edu	37	chr5	32390394	32390394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactcactgcaggcccctgaGgctgaggaggcatgcctggt	7	7	14	13	0	1	2	1	2	0	0	1	3	1	3	3	5	2	3	3	5	0	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:32390394G>A	ENST00000265069.8	-	12	2231	c.2129C>T	c.(2128-2130)cCt>cTt	p.P710L		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	710					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGGCCCCTGAGGCTGAGGAGG	0.532													29	41					0	0	0	0	A	32390394	G	A	32390394	3	1	47	1	0	0	0	0	1	0	0	0	17754	1000	35	4	1131	4	ZFR	5	32390394	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	5504607	32390394	148524866	173	9051											
ELOVL7	79993	broad.mit.edu	37	chr5	60063670	60063670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaagctgtgggtgaccGtgaatagtcaacaatgtcac	12	9	10	10	1	3	2	3	2	0	0	3	2	3	2	2	1	2	1	2	1	5	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:60063670G>A	ENST00000505959.1	-	7	803	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	ELOVL7_ENST00000508821.1_Missense_Mutation_p.R106W|ELOVL7_ENST00000425382.1_Missense_Mutation_p.R106W|ELOVL7_ENST00000438340.1_Missense_Mutation_p.R106W			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	106					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GTGGGTGACCGTGAATAGTCA	0.363													12	18					0	0	0	0	A	60063670	G	A	60063670	3	1	47	1	0	0	0	0	1	0	0	0	5117	1144	40	1	549	1	ELOVL7	5	60063670	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	27673276	60063670	120851590	174	9052											
MAST4	375449	broad.mit.edu	37	chr5	66458461	66458461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctcttttcaaaaagctagCcaagcagccttctcctttac	11	13	4	13	0	3	0	1	0	2	0	5	0	3	0	3	0	5	2	3	0	5	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:66458461C>G	ENST00000404260.3	+	28	4129	c.3821C>G	c.(3820-3822)gCc>gGc	p.A1274G	MAST4_ENST00000261569.7_Missense_Mutation_p.A1077G|MAST4_ENST00000403625.2_Missense_Mutation_p.A1271G|MAST4_ENST00000403666.1_Missense_Mutation_p.A1082G|MAST4_ENST00000405643.1_Missense_Mutation_p.A1092G			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1274						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAAAAGCTAGCCAAGCAGCCT	0.473													12	26					0	0	0	0	G	66458461	C	G	66458461	3	3	47	1	0	0	0	0	1	0	0	0	9396	739	26	4	4052	4	MAST4	5	66458461	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	6394791	66458461	114456799	175	9053											
VCAN	1462	broad.mit.edu	37	chr5	82843903	82843903	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgcactttgtgagcaaGgtaagagctattgcaacatt	11	13	11	6	0	0	2	0	1	0	1	0	2	0	2	0	2	5	5	0	2	4	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:82843903G>A	ENST00000265077.3	+	10	10058	c.9493_splice	c.e10+1	p.D3165_splice	VCAN_ENST00000342785.4_Splice_Site_p.D1411_splice|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Splice_Site_p.D2178_splice|VCAN_ENST00000502527.2_Splice_Site_p.D424_splice|VCAN_ENST00000512590.2_Splice_Site_p.D1363_splice	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3165					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTGTGAGCAAGGTAAGAGCTA	0.383													10	18					0	0	0	0	A	82843903	G	A	82843903	5	1	47	1	0	0	0	0	0	0	1	0	17234	1014	35	4	9527	4	VCAN	5	82843903	Splice_Site	SNP	G	TCGA-BB-7871-01A-11D-2229-08	16385442	82843903	98071357	176	9054											
GPR98	84059	broad.mit.edu	37	chr5	90106265	90106265	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgttcagaatggggaacTgttttttcaaaaattccaaa	13	13	8	7	0	2	1	2	0	0	1	3	2	3	2	2	2	1	2	2	2	5	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:90106265T>A	ENST00000405460.2	+	74	15284	c.15188T>A	c.(15187-15189)cTg>cAg	p.L5063Q	GPR98_ENST00000425867.2_Missense_Mutation_p.L724Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5063	Calx-beta 33.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATGGGGAACTGTTTTTTCAA	0.358													6	14					0	0	0	0	A	90106265	T	A	90106265	3	1	47	1	0	0	0	0	1	0	0	0	6771	1580	55	5	15482	5	GPR98	5	90106265	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	7262362	90106265	90808995	177	9055											
GPR98	84059	broad.mit.edu	37	chr5	90144565	90144565	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggacactaggggattcagtCactttgctgaagtgactgag	11	10	13	7	0	2	3	2	3	0	0	2	5	2	5	0	3	1	1	0	3	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:90144565C>G	ENST00000405460.2	+	79	17227	c.17131C>G	c.(17131-17133)Cac>Gac	p.H5711D	GPR98_ENST00000425867.2_Missense_Mutation_p.H1372D	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5711					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGGATTCAGTCACTTTGCTGA	0.393													12	14					0	0	0	0	G	90144565	C	G	90144565	3	3	47	1	0	0	0	0	1	0	0	0	6771	826	29	2	17445	2	GPR98	5	90144565	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	38300	90144565	90770695	178	9056											
GPR98	84059	broad.mit.edu	37	chr5	90149125	90149125	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaccatccttgatagttgCccatatttgtcaatattggc	12	14	6	9	0	1	1	1	1	0	0	2	1	2	1	3	1	2	1	3	1	6	7			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:90149125C>A	ENST00000405460.2	+	80	17325	c.17229C>A	c.(17227-17229)tgC>tgA	p.C5743*	GPR98_ENST00000425867.2_Nonsense_Mutation_p.C1404*	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5743					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGATAGTTGCCCATATTTGT	0.368													20	44					1.33834e-09	1.58674e-09	1	0	A	90149125	C	A	90149125	4	1	47	1	0	0	0	0	0	1	0	0	6771	747	26	4	17547	4	GPR98	5	90149125	Nonsense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	4560	90149125	90766135	179	9057											
SLC22A4	6583	broad.mit.edu	37	chr5	131647926	131647926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgtaggcgtgctcctcGgctccttcgtgtccgggcag	2	12	13	14	5	1	0	0	0	1	0	7	0	4	0	3	3	1	4	3	3	1	3	rs141478353		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:131647926G>A	ENST00000200652.3	+	2	640	c.466G>A	c.(466-468)Ggc>Agc	p.G156S	AC034220.3_ENST00000417795.1_RNA|SLC22A4_ENST00000491257.1_3'UTR	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	156					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CGTGCTCCTCGGCTCCTTCGT	0.587													31	113					0	0	0	0	A	131647926	G	A	131647926	3	1	47	1	0	0	0	0	1	0	0	0	14544	1116	39	1	472	1	SLC22A4	5	131647926	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	41498801	131647926	49267334	180	9058											
CATSPER3	347732	broad.mit.edu	37	chr5	134343829	134343829	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctcttcagcttggccacGgtactgtgtttgggaacagt	7	12	11	11	1	2	0	1	0	1	0	2	1	2	1	2	3	3	3	2	3	2	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:134343829G>A	ENST00000282611.6	+	4	761	c.675_splice	c.e4+1	p.T225_splice		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	225					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTTGGCCACGGTACTGTGTT	0.562													17	39					0	0	0	0	A	134343829	G	A	134343829	5	1	47	1	0	0	0	0	0	0	1	0	2714	1130	39	1	689	1	CATSPER3	5	134343829	Splice_Site	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2695903	134343829	46571431	181	9059											
TRPC7	57113	broad.mit.edu	37	chr5	135692925	135692925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgggatgttgccatactcagCcgagtccaggaagcgctcct	8	8	12	13	3	1	0	1	0	0	0	3	3	3	2	4	2	4	2	4	2	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:135692925C>A	ENST00000513104.1	-	2	433	c.151G>T	c.(151-153)Gct>Tct	p.A51S	TRPC7_ENST00000426057.2_Missense_Mutation_p.A51S|TRPC7_ENST00000355180.3_Missense_Mutation_p.A51S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	51					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCATACTCAGCCGAGTCCAGG	0.607													28	131					7.01153e-11	8.53934e-11	1	0	A	135692925	C	A	135692925	3	1	47	1	0	0	0	0	1	0	0	0	16679	739	26	4	2481	4	TRPC7	5	135692925	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1349096	135692925	45222335	182	9060											
KDM3B	51780	broad.mit.edu	37	chr5	137726869	137726869	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctctgcacaagaggcacaGaaagacactgatctctccaa	15	6	8	12	0	2	4	0	1	2	3	4	4	3	4	1	1	2	3	1	1	3	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:137726869G>A	ENST00000314358.5	+	8	1748	c.1548G>A	c.(1546-1548)caG>caA	p.Q516Q	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Silent_p.Q172Q	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	516					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAGAGGCACAGAAAGACACTG	0.438													12	46					0	0	0	0	A	137726869	G	A	137726869	2	1	47	1	0	0	0	0	0	0	0	1	8180	933	33	2		2	KDM3B	5	137726869	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2033944	137726869	43188391	183	9061											
ANKHD1	54882	broad.mit.edu	37	chr5	139907848	139907848	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctaaggaactggaagacTtgattcctaaaaatcatatc	15	11	7	8	0	1	2	1	1	0	1	3	4	2	4	1	2	2	1	1	2	7	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:139907848T>G	ENST00000297183.6	+	29	5441	c.5317T>G	c.(5317-5319)Ttg>Gtg	p.L1773V	ANKHD1_ENST00000360839.2_Missense_Mutation_p.L1773V|ANKHD1_ENST00000544120.1_Missense_Mutation_p.L156V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L1773V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGGAAGACTTGATTCCTAA	0.403													24	61					0	0	0	0	G	139907848	T	G	139907848	3	3	47	1	0	0	0	0	1	0	0	0	628	1606	56	5	5537	5	ANKHD1	5	139907848	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	2180979	139907848	41007412	184	9062											
PCDHGA1	56114	broad.mit.edu	37	chr5	140710916	140710916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgggggtgaaccagtccGttcagggaccctcagaattt	9	10	13	9	1	2	3	2	2	0	1	3	4	3	4	3	3	1	1	3	3	2	2	rs139152286	byFrequency	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:140710916G>T	ENST00000517417.1	+	1	665	c.665G>T	c.(664-666)cGt>cTt	p.R222L	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R222L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACCAGTCCGTTCAGGGACC	0.493													15	48					1.3612e-06	1.51622e-06	1	0	T	140710916	G	T	140710916	3	4	47	1	0	0	0	0	1	0	0	0	11621	1145	40	3	667	3	PCDHGA1	5	140710916	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	803068	140710916	40204344	185	9063											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711648	140711648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacattcccgaaaacaaccCcagaggagcctccatcttct	12	8	5	16	1	2	1	0	0	2	1	4	3	4	2	5	1	4	0	5	1	4	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:140711648C>A	ENST00000517417.1	+	1	1397	c.1397C>A	c.(1396-1398)cCc>cAc	p.P466H	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P466H	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAACAACCCCAGAGGAGCC	0.483													44	129					1.15183e-24	1.60948e-24	1	0	A	140711648	C	A	140711648	3	1	47	1	0	0	0	0	1	0	0	0	11621	623	22	4	1399	4	PCDHGA1	5	140711648	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	732	140711648	40203612	186	9064											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751081	140751081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatcaaaacacatgatCtagattctggatttaatgga	14	12	7	8	0	3	3	1	2	2	1	3	5	3	5	1	2	1	0	1	2	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:140751081C>A	ENST00000576222.1	+	1	1251	c.1120C>A	c.(1120-1122)Cta>Ata	p.L374I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACACATGATCTAGATTCTGG	0.423													7	30					5.18039e-06	5.70938e-06	1	0	A	140751081	C	A	140751081	3	1	47	1	0	0	0	0	1	0	0	0	11635	912	32	2	1122	2	PCDHGB3	5	140751081	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	39433	140751081	40164179	187	9065											
PCDHGA9	56107	broad.mit.edu	37	chr5	140784222	140784222	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcctgtaccctgccctccCcactgatggttctactggtg	6	12	8	15	0	1	1	0	1	1	0	3	1	3	1	5	2	3	2	5	2	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:140784222C>G	ENST00000573521.1	+	1	1703	c.1703C>G	c.(1702-1704)cCc>cGc	p.P568R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCCCTCCCCACTGATGGT	0.552													55	177					0	0	0	0	G	140784222	C	G	140784222	3	3	47	1	0	0	0	0	1	0	0	0	11632	623	22	4	1705	4	PCDHGA9	5	140784222	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	33141	140784222	40131038	188	9066											
FAT2	2196	broad.mit.edu	37	chr5	150945353	150945353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacaatcacctgagttcccGaggggctgttctcctgcacc	7	10	9	15	1	2	1	1	1	1	0	4	2	3	1	4	2	2	4	4	2	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:150945353G>A	ENST00000261800.5	-	1	3152	c.3140C>T	c.(3139-3141)tCg>tTg	p.S1047L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1047	Cadherin 9.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.S1047*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAGTTCCCGAGGGGCTGTT	0.597													17	49					0	0	0	0	A	150945353	G	A	150945353	3	1	47	1	0	0	0	0	1	0	0	0	5735	1059	37	1	10001	1	FAT2	5	150945353	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	10161131	150945353	29969907	189	9067											
GRIA1	2890	broad.mit.edu	37	chr5	153085517	153085517	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcacagtgaagagtttgaGgaaggacgggaccagacaac	14	5	15	7	1	0	4	0	2	0	2	0	7	0	7	1	4	1	2	1	4	3	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:153085517G>C	ENST00000285900.5	+	11	2056	c.1713G>C	c.(1711-1713)gaG>gaC	p.E571D	GRIA1_ENST00000448073.4_Missense_Mutation_p.E581D|GRIA1_ENST00000518142.1_Missense_Mutation_p.E491D|GRIA1_ENST00000518783.1_Missense_Mutation_p.E581D|GRIA1_ENST00000521843.2_Missense_Mutation_p.E502D|GRIA1_ENST00000340592.5_Missense_Mutation_p.E571D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	571					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGAGTTTGAGGAAGGACGGG	0.488													19	55					0	0	0	0	C	153085517	G	C	153085517	3	2	47	1	0	0	0	0	1	0	0	0	6817	991	35	4	1755	4	GRIA1	5	153085517	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2140164	153085517	27829743	190	9068											
HAVCR1	26762	broad.mit.edu	37	chr5	156456736	156456736	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaactctcaaagagcaccActgggtcttagtccgtggca	11	9	10	11	1	2	1	1	0	2	1	4	1	3	1	2	2	2	3	2	2	4	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:156456736A>G	ENST00000425854.1	-	7	1601	c.1069T>C	c.(1069-1071)Tgg>Cgg	p.W357R	HAVCR1_ENST00000522693.1_Missense_Mutation_p.W357R|HAVCR1_ENST00000523175.1_3'UTR|HAVCR1_ENST00000544197.1_3'UTR|HAVCR1_ENST00000339252.3_3'UTR			Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAAGAGCACCACTGGGTCTTA	0.408													8	14					0	0	0	0	G	156456736	A	G	156456736	3	3	47	1	0	0	0	0	1	0	0	0	7023	174	6	5		5	HAVCR1	5	156456736	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	3371219	156456736	24458524	191	9069											
FAM71B	153745	broad.mit.edu	37	chr5	156589904	156589904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctttctgattcttgtcccCcgctctcctgcggtgacttt	2	16	8	15	3	3	2	0	2	3	0	5	2	4	2	3	1	1	2	3	1	0	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:156589904C>T	ENST00000302938.4	-	2	1467	c.1372G>A	c.(1372-1374)Ggg>Agg	p.G458R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	458						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCTTGTCCCCCGCTCTCCTG	0.483													45	133					0	0	0	0	T	156589904	C	T	156589904	3	4	47	1	0	0	0	0	1	0	0	0	5654	623	22	4	449	4	FAM71B	5	156589904	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	133168	156589904	24325356	192	9070											
CYFIP2	26999	broad.mit.edu	37	chr5	156810320	156810320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtctggaagccaagtatGccccgctccacctggtccct	8	8	9	16	2	1	0	0	0	1	0	3	1	3	1	6	2	3	2	6	2	4	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:156810320G>T	ENST00000347377.6	+	28	3591	c.3160G>T	c.(3160-3162)Gcc>Tcc	p.A1054S	CYFIP2_ENST00000318218.6_Missense_Mutation_p.A1079S|CYFIP2_ENST00000435847.2_Missense_Mutation_p.A753S|CTB-47B11.3_ENST00000520658.1_RNA|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.A1054S|CYFIP2_ENST00000541131.1_Missense_Mutation_p.A979S|CTB-47B11.3_ENST00000508443.1_RNA|CYFIP2_ENST00000522463.1_Missense_Mutation_p.A858S|CYFIP2_ENST00000521420.1_Missense_Mutation_p.A1028S	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1079					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCCAAGTATGCCCCGCTCCA	0.552													6	21					8.12818e-05	8.56607e-05	1	0	T	156810320	G	T	156810320	3	4	47	1	0	0	0	0	1	0	0	0	4170	1319	46	4	3266	4	CYFIP2	5	156810320	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	220416	156810320	24104940	193	9071											
MAT2B	27430	broad.mit.edu	37	chr5	162943769	162943769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtccgctttgtcttttcCatgcttgaactttcacagct	7	16	7	11	1	2	1	1	1	1	0	4	1	4	1	2	1	3	3	2	1	2	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:162943769C>T	ENST00000518095.1	+	5	845	c.772C>T	c.(772-774)Cat>Tat	p.H258Y	MAT2B_ENST00000518731.1_Intron|MAT2B_ENST00000321757.6_Intron|MAT2B_ENST00000280969.5_Intron			Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	0					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TTGTCTTTTCCATGCTTGAAC	0.433													5	8					0	0	0	0	T	162943769	C	T	162943769	3	4	47	1	0	0	0	0	1	0	0	0	9400	609	21	4		4	MAT2B	5	162943769	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	6133449	162943769	17971491	194	9072											
GABRP	2568	broad.mit.edu	37	chr5	170236736	170236736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcactacagttccttaCagcagatggcagccaaagat	12	10	8	11	0	1	2	1	0	0	2	2	2	2	2	2	1	5	4	2	1	3	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:170236736C>A	ENST00000518525.1	+	10	1461	c.997C>A	c.(997-999)Cag>Aag	p.Q333K	GABRP_ENST00000265294.4_Missense_Mutation_p.Q333K|GABRP_ENST00000519385.1_Intron|GABRP_ENST00000519598.1_Missense_Mutation_p.Q333K			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	333						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGTTCCTTACAGCAGATGGC	0.512											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	68					1.01871e-10	1.23828e-10	1	0	A	170236736	C	A	170236736	3	1	47	1	0	0	0	0	1	0	0	0	6222	479	17	4	1027	4	GABRP	5	170236736	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	7292967	170236736	10678524	195	9073											
GRM6	2916	broad.mit.edu	37	chr5	178418425	178418425	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattgtgccactgtcccacCtgatgtcatcctcattggca	7	13	8	13	0	2	2	2	2	0	0	4	2	4	2	4	1	1	1	4	1	0	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr5:178418425C>A	ENST00000231188.5	-	3	1035	c.857_splice	c.e3+1	p.R286_splice	GRM6_ENST00000517717.1_Splice_Site_p.R286_splice	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	286					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACTGTCCCACCTGATGTCATC	0.597													48	152					2.56175e-15	3.334e-15	1	0	A	178418425	C	A	178418425	5	1	47	1	0	0	0	0	0	0	1	0	6851	695	24	4	1808	4	GRM6	5	178418425	Splice_Site	SNP	C	TCGA-BB-7871-01A-11D-2229-08	8181689	178418425	2496835	196	9074											
NUP153	9972	broad.mit.edu	37	chr6	17629417	17629417	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcttttcttcctgtccaaGattagataccccaaattgaa	11	16	4	10	0	2	3	0	1	2	2	4	3	4	3	4	0	1	0	4	0	5	7			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:17629417G>C	ENST00000262077.2	-	18	3012	c.3013C>G	c.(3013-3015)Ctt>Gtt	p.L1005V	NUP153_ENST00000537253.1_Missense_Mutation_p.L1036V	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1005					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TCCTGTCCAAGATTAGATACC	0.378													12	42					0	0	0	0	C	17629417	G	C	17629417	3	2	47	1	0	0	0	0	1	0	0	0	10826	942	33	2	1434	2	NUP153	6	17629417	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08		17629417	153485650	197	9075											
TRIM38	10475	broad.mit.edu	37	chr6	25966854	25966854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcaactgtggacacagctActgccacttgtgtataacag	12	10	8	11	0	1	0	1	0	0	0	1	1	1	1	1	1	5	2	1	1	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:25966854A>G	ENST00000357085.3	+	3	580	c.104A>G	c.(103-105)tAc>tGc	p.Y35C	TRIM38_ENST00000349458.3_Missense_Mutation_p.Y35C	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	35					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GGACACAGCTACTGCCACTTG	0.507													24	46					0	0	0	0	G	25966854	A	G	25966854	3	3	47	1	0	0	0	0	1	0	0	0	16607	391	14	5	106	5	TRIM38	6	25966854	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	8337437	25966854	145148213	198	9076											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225383	26225383	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttactttgcagatgaactAtggcgcgtactaagcagacg	12	11	10	8	3	0	3	0	1	0	2	0	3	0	3	0	1	5	3	0	1	5	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:26225383A>G	ENST00000360408.1	+	1	1	c.0_splice	c.e1-1	p.M1_splice		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	1					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CAGATGAACTATGGCGCGTAC	0.517													37	86					0	0	0	0	G	26225383	A	G	26225383	5	3	47	1	0	0	0	0	0	0	1	0	7209	463	16	5	3	5	HIST1H3E	6	26225383	Splice_Site	SNP	A	TCGA-BB-7871-01A-11D-2229-08	258529	26225383	144889684	199	9077											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27114966	27114966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggccaagacccgctcttCtcgggctgggcttcagttcc	6	9	11	15	2	3	1	1	0	2	1	5	1	4	1	3	3	0	4	3	3	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:27114966C>A	ENST00000377459.1	+	1	106	c.59C>A	c.(58-60)tCt>tAt	p.S20Y		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	20					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						ACCCGCTCTTCTCGGGCTGGG	0.617													16	63					1.3612e-06	1.51622e-06	1	0	A	27114966	C	A	27114966	3	1	47	1	0	0	0	0	1	0	0	0	7184	913	32	2	61	2	HIST1H2AH	6	27114966	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	889583	27114966	144000101	200	9078											
RNF39	80352	broad.mit.edu	37	chr6	30043524	30043525	+	Frame_Shift_Ins	INS	-	-	CC																															tctcctgggattgcctctctINScttcaaccagagtctcagtc																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:30043524_30043525insCC	ENST00000244360.6	-	1	139_140	c.42_43insGG	c.(40-45)aagagafs	p.R15fs	RNF39_ENST00000376751.3_Frame_Shift_Ins_p.R15fs	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	15						cytoplasm	zinc ion binding										ATTGCCTCTCTCTTCAACCAGA	0.579													19	75	---	---	---	---					CC	30043525	-	CC	30043524	7	5	47	1	0	1	1	0	0	0	0	0	13576	1559	54	0	1235	0	RNF39	6	30043524	Frame_Shift_Ins	INS	-	TCGA-BB-7871-01A-11D-2229-08	2928558	30043524	141071543	201	9079											
C6orf25	80739	broad.mit.edu	37	chr6	31691750	31691750	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacctattgcaaggccccCgggcctacccatggtaggtg	8	7	13	13	1	0	0	0	0	0	0	0	1	0	1	5	5	2	2	5	5	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:31691750C>T	ENST00000375809.3	+	2	407	c.396C>T	c.(394-396)ccC>ccT	p.P132P	C6orf25_ENST00000375805.2_Silent_p.P132P|C6orf25_ENST00000480039.1_Silent_p.P132P|C6orf25_ENST00000375810.4_Silent_p.P132P	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	132						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						GCAAGGCCCCCGGGCCTACCC	0.637													36	101					0	0	0	0	T	31691750	C	T	31691750	2	4	47	1	0	0	0	0	0	0	0	1	2381	639	23	1		1	C6orf25	6	31691750	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1648226	31691750	139423317	202	9080											
C2	717	broad.mit.edu	37	chr6	31901955	31901955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccagaaagcctgggccGtaaaatccaaatccagcgct	12	8	8	13	2	1	1	0	0	1	1	4	1	3	1	5	1	2	2	5	1	4	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:31901955G>A	ENST00000299367.5	+	6	1004	c.728G>A	c.(727-729)cGt>cAt	p.R243H	CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R111H|C2_ENST00000418949.2_Missense_Mutation_p.R243H|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Intron	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGCCTGGGCCGTAAAATCCAA	0.547													5	193					0	0	0	0	A	31901955	G	A	31901955	3	1	47	1	0	0	0	0	1	0	0	0	2094	1145	40	1	827	1	C2	6	31901955	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	210205	31901955	139213112	203	9081											
B3GALT4	8705	broad.mit.edu	37	chr6	33246192	33246192	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcctgctgacgtcccaCaggctggacccctggaagat	10	8	10	13	1	0	2	0	1	0	1	2	4	2	4	4	3	1	2	4	3	2	1	rs141217533	byFrequency	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:33246192C>G	ENST00000451237.1	+	1	1276	c.996C>G	c.(994-996)caC>caG	p.H332Q		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	332					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TGACGTCCCACAGGCTGGACC	0.627													33	93					0	0	0	0	G	33246192	C	G	33246192	3	3	47	1	0	0	0	0	1	0	0	0	1253	477	17	4	998	4	B3GALT4	6	33246192	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1344237	33246192	137868875	204	9082											
PHF1	5252	broad.mit.edu	37	chr6	33382810	33382810	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccggagccagagcccctGaggaggaggcagaaggggaa	12	1	19	9	1	0	3	0	1	0	2	0	7	0	7	4	7	2	1	4	7	2	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:33382810G>T	ENST00000374512.3	+	12	1388	c.1117G>T	c.(1117-1119)Gag>Tag	p.E373*	PHF1_ENST00000374516.3_Silent_p.L376L	NM_002636.4	NP_002627.1	O43189	PHF1_HUMAN	PHD finger protein 1	372					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CAGAGCCCCTGAGGAGGAGGC	0.682											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	10					0.00198382	0.0020292	1	0	T	33382810	G	T	33382810	4	4	47	1	0	0	0	0	0	1	0	0	11892	1291	45	2	1170	2	PHF1	6	33382810	Nonsense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	136618	33382810	137732257	205	9083											
LRFN2	57497	broad.mit.edu	37	chr6	40399496	40399496	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcagttgtactgcagctGgtacatcttcacccggggtg	8	10	13	10	1	2	1	1	0	1	1	2	1	2	1	1	3	5	6	1	3	2	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:40399496G>A	ENST00000338305.6	-	2	1899	c.1357C>T	c.(1357-1359)Cag>Tag	p.Q453*		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	453	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TACTGCAGCTGGTACATCTTC	0.597													17	36					0	0	0	0	A	40399496	G	A	40399496	4	1	47	1	0	0	0	0	0	1	0	0	9002	1357	47	4	1020	4	LRFN2	6	40399496	Nonsense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	7016686	40399496	130715571	206	9084											
RPL7L1	285855	broad.mit.edu	37	chr6	42851353	42851353	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgttgtacgcatcgaaagGtaaggaactggtgtctttct	9	15	11	6	2	2	0	0	0	2	0	3	2	2	1	0	3	2	4	0	3	4	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:42851353G>T	ENST00000493763.1	+	3	587		c.e3+1		RPL7L1_ENST00000424341.2_Splice_Site|RPL7L1_ENST00000304734.5_Splice_Site|RPL7L1_ENST00000397415.3_Splice_Site|RPL7L1_ENST00000602561.1_Splice_Site	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1						translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			GCATCGAAAGGTAAGGAACTG	0.468													6	29					0.0215528	0.0217613	1	0	T	42851353	G	T	42851353	5	4	47	1	0	0	0	0	0	0	1	0	13686	1275	44	4	295	4	RPL7L1	6	42851353	Splice_Site	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2451857	42851353	128263714	207	9085											
LRRC1	55227	broad.mit.edu	37	chr6	53787436	53787436	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccactgtttgtttttagagaAcacttctaaggcgagccact	10	13	8	10	1	1	1	0	0	1	1	1	3	1	1	2	1	2	2	2	1	3	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:53787436A>C	ENST00000370888.1	+	14	1697	c.1420A>C	c.(1420-1422)Aca>Cca	p.T474P		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	474						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TTTTTAGAGAACACTTCTAAG	0.403													50	92					0	0	0	0	C	53787436	A	C	53787436	3	2	47	1	0	0	0	0	1	0	0	0	9030	43	2	5	1474	5	LRRC1	6	53787436	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	10936083	53787436	117327631	208	9086											
MYO6	4646	broad.mit.edu	37	chr6	76550395	76550395	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaaatacattttaatgAaaaggtaagtgagagtaagc	18	11	10	2	0	0	3	0	2	0	2	0	4	0	3	0	1	2	3	0	1	8	6	rs121912559		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:76550395A>G	ENST00000369981.3	+	8	926	c.647A>G	c.(646-648)gAa>gGa	p.E216G	MYO6_ENST00000369977.3_Missense_Mutation_p.E216G|MYO6_ENST00000369975.1_Missense_Mutation_p.E216G|MYO6_ENST00000369985.4_Missense_Mutation_p.E216G			Q9UM54	MYO6_HUMAN	myosin VI	216	Myosin head-like.		E -> V (in DFNB37; dbSNP:rs28936390).		actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CATTTTAATGAAAAGGTAAGT	0.373													3	26					0	0	0	0	G	76550395	A	G	76550395	3	3	47	1	0	0	0	0	1	0	0	0	10151	246	9	5	673	5	MYO6	6	76550395	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	22762959	76550395	94564672	209	9087											
MYO6	4646	broad.mit.edu	37	chr6	76550980	76550980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatctcctagagaaatctaGgatctgtgttcaaggcaaag	13	12	9	7	0	4	1	1	0	3	1	5	3	4	2	1	2	0	2	1	2	6	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:76550980G>A	ENST00000369981.3	+	9	980	c.701G>A	c.(700-702)aGg>aAg	p.R234K	MYO6_ENST00000369977.3_Missense_Mutation_p.R234K|MYO6_ENST00000369975.1_Missense_Mutation_p.R234K|MYO6_ENST00000369985.4_Missense_Mutation_p.R234K			Q9UM54	MYO6_HUMAN	myosin VI	234	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAGAAATCTAGGATCTGTGTT	0.313													13	41					0	0	0	0	A	76550980	G	A	76550980	3	1	47	1	0	0	0	0	1	0	0	0	10151	1000	35	4	731	4	MYO6	6	76550980	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	585	76550980	94564087	210	9088											
KIAA1009	22832	broad.mit.edu	37	chr6	84872925	84872925	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcattttttcgaagtctActtcaagagcttgtttgtct	7	20	6	8	1	5	1	2	0	3	1	6	2	5	1	0	0	2	2	0	0	3	8			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:84872925A>G	ENST00000403245.3	-	19	2564	c.2450T>C	c.(2449-2451)gTa>gCa	p.V817A	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.V741A	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	817					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTCGAAGTCTACTTCAAGAGC	0.328													10	42					0	0	0	0	G	84872925	A	G	84872925	3	3	47	1	0	0	0	0	1	0	0	0	8254	391	14	5	1797	5	KIAA1009	6	84872925	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	8321945	84872925	86242142	211	9089											
RNGTT	8732	broad.mit.edu	37	chr6	89650881	89650881	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttggtcctaacattgtcTtcagaggtaagaatcttcct	10	15	7	9	0	4	2	1	0	3	2	6	2	6	2	2	2	1	1	2	2	3	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:89650881T>C	ENST00000369485.4	-	2	269	c.83A>G	c.(82-84)aAg>aGg	p.K28R	RNGTT_ENST00000369475.3_Missense_Mutation_p.K28R|RNGTT_ENST00000538899.1_Intron|RNGTT_ENST00000265607.6_Missense_Mutation_p.K28R	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	28	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TAACATTGTCTTCAGAGGTAA	0.333													3	53					0	0	0	0	C	89650881	T	C	89650881	3	2	47	1	0	0	0	0	1	0	0	0	13588	1609	56	5	1770	5	RNGTT	6	89650881	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	4777956	89650881	81464186	212	9090											
MDN1	23195	broad.mit.edu	37	chr6	90411328	90411328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaacttctttataccagcGaagccaccagtctggctccc	9	10	7	15	1	2	0	0	0	2	0	3	1	3	0	4	1	5	2	4	1	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:90411328G>A	ENST00000369393.3	-	55	8491	c.8376C>T	c.(8374-8376)ttC>ttT	p.F2792F	MDN1_ENST00000428876.1_Silent_p.F2792F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2792					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTATACCAGCGAAGCCACCAG	0.413													15	49					0	0	0	0	A	90411328	G	A	90411328	2	1	47	1	0	0	0	0	0	0	0	1	9484	1049	37	1		1	MDN1	6	90411328	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	760447	90411328	80703739	213	9091											
ECT2L	345930	broad.mit.edu	37	chr6	139159495	139159495	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctttctttttaggtttgtCcaagactggttttcagaaag	8	18	8	7	0	3	2	1	0	2	2	4	2	4	2	1	2	0	2	1	2	3	7			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:139159495C>A	ENST00000423192.1	+	4	347	c.186C>A	c.(184-186)gtC>gtA	p.V62V	ECT2L_ENST00000367682.2_Silent_p.V62V|ECT2L_ENST00000541398.1_5'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	62					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TTAGGTTTGTCCAAGACTGGT	0.343			"N, Splice, Mis"		ETP ALL								10	30					3.86212e-05	4.11872e-05	1	0	A	139159495	C	A	139159495	2	1	47	1	0	0	0	0	0	0	0	1	4938	842	30	2		2	ECT2L	6	139159495	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	48748167	139159495	31955572	214	9092											
SYNE1	23345	broad.mit.edu	37	chr6	152647535	152647535	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttctttgccggttggcttGatgagtgggtccagggtggc	3	14	16	8	1	2	2	0	2	2	0	3	2	3	2	2	5	1	2	2	5	0	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:152647535G>A	ENST00000367255.5	-	79	15790	c.15189C>T	c.(15187-15189)atC>atT	p.I5063I	SYNE1_ENST00000265368.4_Silent_p.I5063I|SYNE1_ENST00000341594.5_Silent_p.I4810I|SYNE1_ENST00000423061.1_Silent_p.I4992I|SYNE1_ENST00000448038.1_Silent_p.I4992I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5063					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGGTTGGCTTGATGAGTGGGT	0.517										HNSCC(10;0.0054)			16	30					0	0	0	0	A	152647535	G	A	152647535	2	1	47	1	0	0	0	0	0	0	0	1	15536	1280	45	2		2	SYNE1	6	152647535	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	13488040	152647535	18467532	215	9093											
SYNE1	23345	broad.mit.edu	37	chr6	152711563	152711563	+	Missense_Mutation	SNP	C	C	A																															catattcaacttaacttcccCttcacctttcatcaggagaa																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:152711563C>A	ENST00000367255.5	-	53	8630	c.8029G>T	c.(8029-8031)Ggg>Tgg	p.G2677W	SYNE1_ENST00000265368.4_Missense_Mutation_p.G2677W|SYNE1_ENST00000341594.5_Missense_Mutation_p.G2716W|SYNE1_ENST00000423061.1_Missense_Mutation_p.G2684W|SYNE1_ENST00000448038.1_Missense_Mutation_p.G2684W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2677					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTAACTTCCCCTTCACCTTTC	0.413										HNSCC(10;0.0054)			14	28					1.49906e-05	1.61517e-05	1	0	A	152711563	C	A	152711563	3	1	47	1	0	0	0	0	1	0	0	0	15536	681	24	4	18813	4	SYNE1	6	152711563	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	64028	152711563	18403504	216	9094	85	2									
SYNE1	23345	broad.mit.edu	37	chr6	152711564	152711564	+	Silent	SNP	T	T	C																															atattcaacttaacttccccTtcacctttcatcaggagaat																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:152711564T>C	ENST00000367255.5	-	53	8629	c.8028A>G	c.(8026-8028)gaA>gaG	p.E2676E	SYNE1_ENST00000265368.4_Silent_p.E2676E|SYNE1_ENST00000341594.5_Silent_p.E2715E|SYNE1_ENST00000423061.1_Silent_p.E2683E|SYNE1_ENST00000448038.1_Silent_p.E2683E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2676					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAACTTCCCCTTCACCTTTCA	0.413										HNSCC(10;0.0054)			14	28					0	0	0	0	C	152711564	T	C	152711564	2	2	47	1	0	0	0	0	0	0	0	1	15536	1606	56	5		5	SYNE1	6	152711564	Silent	SNP	T	TCGA-BB-7871-01A-11D-2229-08	1	152711564	18403503	217	9095	85	2									
SYNE1	23345	broad.mit.edu	37	chr6	152749342	152749342	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaaaagtgctgctcacctCtgccagtgggccagcagatt	10	8	12	11	0	2	1	1	0	1	1	2	2	2	2	3	2	4	3	3	2	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:152749342C>G	ENST00000367255.5	-	37	5575	c.4974G>C	c.(4972-4974)caG>caC	p.Q1658H	SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1658H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1728H|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1658H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1665H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1665H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1658					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCTCACCTCTGCCAGTGGG	0.507										HNSCC(10;0.0054)			82	221					0	0	0	0	G	152749342	C	G	152749342	3	3	47	1	0	0	0	0	1	0	0	0	15536	912	32	2	21932	2	SYNE1	6	152749342	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	37778	152749342	18365725	218	9096											
RGS17	26575	broad.mit.edu	37	chr6	153345580	153345580	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgctggggccttcatcatCttgtcaaaattttgagacca	9	13	8	11	0	4	1	3	1	1	1	4	2	4	1	3	2	1	1	3	2	2	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:153345580C>G	ENST00000367225.2	-	3	285	c.261G>C	c.(259-261)aaG>aaC	p.K87N	RGS17_ENST00000206262.1_Missense_Mutation_p.K87N			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	87	RGS.				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		CCTTCATCATCTTGTCAAAAT	0.473													22	48					0	0	0	0	G	153345580	C	G	153345580	3	3	47	1	0	0	0	0	1	0	0	0	13382	912	32	2	379	2	RGS17	6	153345580	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	596238	153345580	17769487	219	9097											
SLC22A2	6582	broad.mit.edu	37	chr6	160645781	160645781	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggtctcaggcaaagctttCcctttagtttctggaagcaa	10	13	9	9	0	2	0	1	0	2	0	4	1	3	1	1	3	2	4	1	3	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:160645781C>A	ENST00000366953.3	-	10	1815	c.1557G>T	c.(1555-1557)ggG>ggT	p.G519G	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	519					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GCAAAGCTTTCCCTTTAGTTT	0.418													28	76					2.4375e-19	3.30992e-19	1	0	A	160645781	C	A	160645781	2	1	47	1	0	0	0	0	0	0	0	1	14539	842	30	2		2	SLC22A2	6	160645781	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	7300201	160645781	10469286	220	9098											
FRMD1	79981	broad.mit.edu	37	chr6	168479649	168479649	+	Frame_Shift_Del	DEL	C	C	-																															atcgcgtccattcccagggtCggctcctgctgactgcatgc																								rs146200905		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr6:168479649delC	ENST00000283309.6	-	1	190	c.126delG	c.(124-126)ccfs	p.P42fs		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	42						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TTCCCAGGGTCGGCTCCTGCT	0.667													28	80	---	---	---	---					-	168479649	C	-	168479649	7	5	47	1	0	1	0	1	0	0	0	0	6097	871	31	0	1580	0	FRMD1	6	168479649	Frame_Shift_Del	DEL	C	TCGA-BB-7871-01A-11D-2229-08	7833868	168479649	2635418	221	9099											
SDK1	221935	broad.mit.edu	37	chr7	4089029	4089029	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaagccgtgaactccacCaccattcagttcctgtggaa	11	8	9	13	2	1	1	1	1	0	0	3	3	3	3	5	2	2	1	5	2	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:4089029C>A	ENST00000404826.2	+	18	2791	c.2652C>A	c.(2650-2652)acC>acA	p.T884T	SDK1_ENST00000389531.3_Silent_p.T884T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	884	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGAACTCCACCACCATTCAGT	0.592													15	49					6.72482e-11	8.20612e-11	1	0	A	4089029	C	A	4089029	2	1	47	1	0	0	0	0	0	0	0	1	14055	581	21	4		4	SDK1	7	4089029	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08		4089029	155049634	222	9100											
HOXA6	3203	broad.mit.edu	37	chr7	27186927	27186927	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcttgggatatgtcttacCcgcgcaggagttcatccgct	6	13	11	11	3	3	0	1	0	2	0	4	2	4	2	2	2	1	3	2	2	2	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:27186927C>A	ENST00000222728.3	-	1	466	c.442_splice	c.e1+1	p.G148_splice	HOXA3_ENST00000467897.2_Intron|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	148						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						TATGTCTTACCCGCGCAGGAG	0.542													14	49					1.05317e-09	1.25578e-09	1	0	A	27186927	C	A	27186927	5	1	47	1	0	0	0	0	0	0	1	0	7346	637	22	4	267	4	HOXA6	7	27186927	Splice_Site	SNP	C	TCGA-BB-7871-01A-11D-2229-08	23097898	27186927	131951736	223	9101											
EPDR1	54749	broad.mit.edu	37	chr7	37989907	37989907	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgcggttttttgacatccAgctgggtattaaagacccct	9	13	9	10	2	0	2	0	1	0	1	1	2	1	2	3	2	2	3	3	2	4	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:37989907A>T	ENST00000199448.4	+	3	963	c.584A>T	c.(583-585)cAg>cTg	p.Q195L	EPDR1_ENST00000425345.1_Missense_Mutation_p.Q134L|EPDR1_ENST00000476620.1_Missense_Mutation_p.Q93L|EPDR1_ENST00000559325.1_Missense_Mutation_p.Q315L	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	195					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						TTTGACATCCAGCTGGGTATT	0.493													6	17					0	0	0	0	T	37989907	A	T	37989907	3	4	47	1	0	0	0	0	1	0	0	0	5201	188	7	5	954	5	EPDR1	7	37989907	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	10802980	37989907	121148756	224	9102											
AEBP1	165	broad.mit.edu	37	chr7	44151818	44151818	+	Silent	SNP	C	C	T																															tttgaagatttcccggatctCaactctgtgctctggggagc																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:44151818C>T	ENST00000223357.3	+	17	2420	c.2115C>T	c.(2113-2115)ctC>ctT	p.L705L	AEBP1_ENST00000450684.2_Silent_p.L280L	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	705	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TCCCGGATCTCAACTCTGTGC	0.577													16	79					0	0	0	0	T	44151818	C	T	44151818	2	4	47	1	0	0	0	0	0	0	0	1	349	813	29	2		2	AEBP1	7	44151818	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	6161911	44151818	114986845	225	9103	86	2									
AEBP1	165	broad.mit.edu	37	chr7	44151819	44151819	+	Missense_Mutation	SNP	A	A	C																															ttgaagatttcccggatctcAactctgtgctctggggagct																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:44151819A>C	ENST00000223357.3	+	17	2421	c.2116A>C	c.(2116-2118)Aac>Cac	p.N706H	AEBP1_ENST00000450684.2_Missense_Mutation_p.N281H	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	706	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCCGGATCTCAACTCTGTGCT	0.577													15	78					0	0	0	0	C	44151819	A	C	44151819	3	2	47	1	0	0	0	0	1	0	0	0	349	130	5	5	2182	5	AEBP1	7	44151819	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	1	44151819	114986844	226	9104	86	2									
AUTS2	26053	broad.mit.edu	37	chr7	69064857	69064857	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcccggcccagaccccCgcggaggaagcggagagagt	8	2	15	16	5	0	2	0	0	0	2	1	6	1	5	5	4	1	0	5	4	1	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:69064857C>A	ENST00000342771.4	+	1	539	c.218C>A	c.(217-219)cCg>cAg	p.P73Q	AUTS2_ENST00000403018.2_Missense_Mutation_p.P73Q|AUTS2_ENST00000406775.2_Missense_Mutation_p.P73Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	73										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCAGACCCCCGCGGAGGAAG	0.647													14	25					4.3838e-07	4.91803e-07	1	0	A	69064857	C	A	69064857	3	1	47	1	0	0	0	0	1	0	0	0	1229	652	23	3	220	3	AUTS2	7	69064857	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	24913038	69064857	90073806	227	9105											
AUTS2	26053	broad.mit.edu	37	chr7	70255076	70255076	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcccaacagcacctcGagccgggaggccgagccgcg	8	1	15	17	5	0	0	0	0	0	0	1	3	0	1	6	3	4	1	6	3	1	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:70255076G>T	ENST00000342771.4	+	19	3195	c.2874G>T	c.(2872-2874)tcG>tcT	p.S958S	AUTS2_ENST00000406775.2_Silent_p.S934S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	958										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACAGCACCTCGAGCCGGGAGG	0.697													5	14					1.23904e-05	1.34194e-05	1	0	T	70255076	G	T	70255076	2	4	47	1	0	0	0	0	0	0	0	1	1229	1045	37	3		3	AUTS2	7	70255076	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1190219	70255076	88883587	228	9106											
CALN1	83698	broad.mit.edu	37	chr7	71743729	71743729	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcactgccagcagagagCgatcggttgaggtaattccc	9	9	12	11	2	1	2	1	1	0	1	3	4	2	2	2	2	3	3	2	2	1	3	rs146054367	byFrequency	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:71743729C>T	ENST00000395275.2	-	3	574	c.186G>A	c.(184-186)tcG>tcA	p.S62S	CALN1_ENST00000431984.1_Silent_p.S20S|CALN1_ENST00000329008.5_Silent_p.S20S|CALN1_ENST00000405452.2_Silent_p.S20S|CALN1_ENST00000412588.1_Silent_p.S62S|CALN1_ENST00000395276.2_Silent_p.S20S	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	20	EF-hand 1.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CAGCAGAGAGCGATCGGTTGA	0.572													16	31					0	0	0	0	T	71743729	C	T	71743729	2	4	47	1	0	0	0	0	0	0	0	1	2616	755	27	1		1	CALN1	7	71743729	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1488653	71743729	87394934	229	9107											
NSUN5	55695	broad.mit.edu	37	chr7	72721446	72721446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaataatcaactacatCatcggagcaggtcttgagag	14	10	9	8	1	3	2	2	2	1	1	4	4	3	3	0	2	3	1	0	2	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:72721446C>A	ENST00000428206.1	-	4	344	c.331G>T	c.(331-333)Gat>Tat	p.D111Y	NSUN5_ENST00000252594.6_Missense_Mutation_p.D149Y|NSUN5_ENST00000310326.8_Missense_Mutation_p.D149Y|NSUN5_ENST00000438747.2_Missense_Mutation_p.D149Y	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	149							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TCAACTACATCATCGGAGCAG	0.532													10	68					1.08611e-07	1.22948e-07	1	0	A	72721446	C	A	72721446	3	1	47	1	0	0	0	0	1	0	0	0	10752	826	29	2	1004	2	NSUN5	7	72721446	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	977717	72721446	86417217	230	9108											
SEMA3E	9723	broad.mit.edu	37	chr7	83014750	83014750	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttatccaaagcatcccCtacaacaggaacattaatgc	15	9	5	12	0	1	0	0	0	1	0	3	1	3	1	3	1	5	1	3	1	6	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:83014750C>T	ENST00000307792.3	-	16	2203		c.e16-1		SEMA3E_ENST00000427262.1_Splice_Site	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E						axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAAGCATCCCCTACAACAGGA	0.353													25	103					0	0	0	0	T	83014750	C	T	83014750	5	4	47	1	0	0	0	0	0	0	1	0	14115	695	24	4	600	4	SEMA3E	7	83014750	Splice_Site	SNP	C	TCGA-BB-7871-01A-11D-2229-08	10293304	83014750	76123913	231	9109											
CYP3A4	1576	broad.mit.edu	37	chr7	99361498	99361498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttattgggtaaaactgcatCaatttcctcctgcagtttct	9	16	6	10	0	2	0	1	0	1	0	4	0	4	0	2	1	3	4	2	1	4	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:99361498C>G	ENST00000354593.2	-	5	659	c.556G>C	c.(556-558)Gat>Cat	p.D186H	CYP3A4_ENST00000336411.2_Missense_Mutation_p.D336H			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	336					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AAAACTGCATCAATTTCCTCC	0.463													10	40					0	0	0	0	G	99361498	C	G	99361498	3	3	47	1	0	0	0	0	1	0	0	0	4210	826	29	2	521	2	CYP3A4	7	99361498	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	16346748	99361498	59777165	232	9110											
GAL3ST4	79690	broad.mit.edu	37	chr7	99758003	99758003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagtgctgaggccctgctTatgtccagcctgggcattgt	6	11	13	11	0	0	1	0	1	0	0	1	2	1	1	3	2	3	3	3	2	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:99758003T>C	ENST00000360039.4	-	4	1401	c.1009A>G	c.(1009-1011)Aag>Gag	p.K337E	GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.K275E|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.K337E|GAL3ST4_ENST00000423751.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	337					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCCCTGCTTATGTCCAGCC	0.597													42	93					0	0	0	0	C	99758003	T	C	99758003	3	2	47	1	0	0	0	0	1	0	0	0	6249	1763	61	5	455	5	GAL3ST4	7	99758003	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	396505	99758003	59380660	233	9111											
MUC17	140453	broad.mit.edu	37	chr7	100675429	100675429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaactcctgttgaaatcagCacacctgtgaccatttctgc	11	11	6	13	0	2	2	1	2	1	0	3	2	3	2	3	0	3	2	3	0	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:100675429C>A	ENST00000306151.4	+	3	796	c.732C>A	c.(730-732)agC>agA	p.S244R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	244	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTGAAATCAGCACACCTGTGA	0.493													84	254					2.22156e-40	3.21177e-40	1	0	A	100675429	C	A	100675429	3	1	47	1	0	0	0	0	1	0	0	0	10044	709	25	4	742	4	MUC17	7	100675429	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	917426	100675429	58463234	234	9112											
FBXL13	222235	broad.mit.edu	37	chr7	102572330	102572330	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttgcttatactcactgTgaatgttgggcagtcagaga	10	13	12	6	0	2	2	2	1	0	1	2	3	2	2	0	2	2	4	0	2	3	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:102572330T>A	ENST00000393772.2	-	9	1201	c.775A>T	c.(775-777)Aca>Tca	p.T259S	FBXL13_ENST00000456695.1_Missense_Mutation_p.T259S|FBXL13_ENST00000455112.2_Missense_Mutation_p.T259S|FBXL13_ENST00000436908.1_Missense_Mutation_p.T259S|FBXL13_ENST00000379305.3_Missense_Mutation_p.T259S|FBXL13_ENST00000379308.3_Missense_Mutation_p.T259S|FBXL13_ENST00000379306.3_Missense_Mutation_p.T259S|LRRC17_ENST00000249377.4_Intron|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000313221.4_Missense_Mutation_p.T259S			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	259										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ATACTCACTGTGAATGTTGGG	0.373													15	46					0	0	0	0	A	102572330	T	A	102572330	3	1	47	1	0	0	0	0	1	0	0	0	5754	1696	59	5	1480	5	FBXL13	7	102572330	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	1896901	102572330	56566333	235	9113											
DOCK4	9732	broad.mit.edu	37	chr7	111395598	111395598	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttttccacttcaaaccaGcgagagatgccaggcaaact	12	8	8	13	2	1	1	1	0	0	1	2	3	2	1	3	1	4	2	3	1	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:111395598G>T	ENST00000428084.1	-	42	4661	c.4389C>A	c.(4387-4389)cgC>cgA	p.R1463R	DOCK4_ENST00000437633.1_Silent_p.R1454R|DOCK4_ENST00000494651.2_Silent_p.R337R			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1454	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTTCAAACCAGCGAGAGATGC	0.443													13	29					9.31168e-06	1.02086e-05	1	0	T	111395598	G	T	111395598	2	4	47	1	0	0	0	0	0	0	0	1	4725	958	34	4		4	DOCK4	7	111395598	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	8823268	111395598	47743065	236	9114											
CFTR	1080	broad.mit.edu	37	chr7	117171062	117171062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctaggcataggcttatGccttctctttattgtgagga	8	17	9	7	0	2	1	0	1	2	0	3	2	2	2	1	3	1	2	1	3	5	8			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:117171062G>C	ENST00000003084.6	+	4	515	c.383G>C	c.(382-384)tGc>tCc	p.C128S	CFTR_ENST00000454343.1_Missense_Mutation_p.C128S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	128	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATAGGCTTATGCCTTCTCTTT	0.428									Cystic Fibrosis				11	22					0	0	0	0	C	117171062	G	C	117171062	3	2	47	1	0	0	0	0	1	0	0	0	3323	1319	46	4	397	4	CFTR	7	117171062	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	5775464	117171062	41967601	237	9115											
KCND2	3751	broad.mit.edu	37	chr7	119914918	119914918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagggactttttctaccacCcagaaactcagcagtatttc	12	11	7	11	0	2	2	1	0	1	2	3	3	2	3	2	1	3	2	2	1	3	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:119914918C>A	ENST00000331113.4	+	1	1197	c.232C>A	c.(232-234)Cca>Aca	p.P78T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	78	Interaction with KCNIP1 (By similarity).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTTCTACCACCCAGAAACTCA	0.542													69	168					2.32817e-41	3.37369e-41	1	0	A	119914918	C	A	119914918	3	1	47	1	0	0	0	0	1	0	0	0	8072	623	22	4	234	4	KCND2	7	119914918	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	2743856	119914918	39223745	238	9116											
GRM8	2918	broad.mit.edu	37	chr7	126173685	126173685	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaaacacaggcaccacaGcccagggagaatgccactcc	15	2	8	16	0	0	1	0	0	0	1	1	2	1	1	4	2	4	1	4	2	3	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:126173685G>C	ENST00000339582.2	-	9	2559	c.1751C>G	c.(1750-1752)gCt>gGt	p.A584G	GRM8_ENST00000444921.2_Missense_Mutation_p.A584G|GRM8_ENST00000358373.3_Missense_Mutation_p.A584G|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	584					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGGCACCACAGCCCAGGGAGA	0.512										HNSCC(24;0.065)			18	35					0	0	0	0	C	126173685	G	C	126173685	3	2	47	1	0	0	0	0	1	0	0	0	6853	971	34	4	1037	4	GRM8	7	126173685	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	6258767	126173685	32964978	239	9117											
TNPO3	23534	broad.mit.edu	37	chr7	128640492	128640492	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaacactacctcatattgAggatggcctgcacagataag	15	9	8	9	0	1	2	1	1	0	1	1	3	1	3	2	2	3	1	2	2	5	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:128640492A>T	ENST00000393245.1	-	7	1375	c.1002T>A	c.(1000-1002)ccT>ccA	p.P334P	TNPO3_ENST00000471166.1_Silent_p.P334P|TNPO3_ENST00000471234.1_Silent_p.P334P|TNPO3_ENST00000265388.5_Silent_p.P334P|TNPO3_ENST00000482320.1_Silent_p.P268P	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	334					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CCTCATATTGAGGATGGCCTG	0.398													22	50					0	0	0	0	T	128640492	A	T	128640492	2	4	47	1	0	0	0	0	0	0	0	1	16431	291	11	5		5	TNPO3	7	128640492	Silent	SNP	A	TCGA-BB-7871-01A-11D-2229-08	2466807	128640492	30498171	240	9118											
CPA5	93979	broad.mit.edu	37	chr7	129986364	129986364	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgggacgcgccctgggcCatcccccgtggacaggcgga	6	3	17	15	5	0	0	0	0	0	0	1	3	1	3	4	6	0	0	4	6	0	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:129986364C>A	ENST00000485477.1	+	2	1167	c.38C>A	c.(37-39)cCa>cAa	p.P13Q	CPA5_ENST00000393213.3_Missense_Mutation_p.P13Q|CPA5_ENST00000466363.2_Missense_Mutation_p.P13Q|CPA5_ENST00000461828.1_Missense_Mutation_p.P13Q|CPA5_ENST00000431780.2_Missense_Mutation_p.P13Q|CPA5_ENST00000474905.1_Missense_Mutation_p.P13Q|CPA5_ENST00000355388.3_Missense_Mutation_p.P13Q			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	13					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CGCCCTGGGCCATCCCCCGTG	0.627													39	109					2.51966e-14	3.23219e-14	1	0	A	129986364	C	A	129986364	3	1	47	1	0	0	0	0	1	0	0	0	3823	594	21	4	40	4	CPA5	7	129986364	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1345872	129986364	29152299	241	9119											
KIAA1549	57670	broad.mit.edu	37	chr7	138603863	138603863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtattggagaaaccatcCgtggagtggtccagtgagta	11	10	13	7	1	0	2	0	1	0	1	2	4	2	3	3	3	1	2	3	3	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:138603863C>T	ENST00000440172.1	-	2	557	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	KIAA1549_ENST00000422774.1_Missense_Mutation_p.R170Q|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R120Q	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	170						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGAAACCATCCGTGGAGTGGT	0.478			O	BRAF	pilocytic astrocytoma								46	125					0	0	0	0	T	138603863	C	T	138603863	3	4	47	1	0	0	0	0	1	0	0	0	8295	652	23	1	5419	1	KIAA1549	7	138603863	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	8617499	138603863	20534800	242	9120											
TAS2R3	50831	broad.mit.edu	37	chr7	141464364	141464364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatggtatggatgctgttgGgtgcactgctcttatcctgt	5	16	13	7	0	1	1	0	1	1	0	2	2	2	2	1	3	3	5	1	3	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:141464364G>T	ENST00000247879.2	+	1	468	c.406G>T	c.(406-408)Ggt>Tgt	p.G136C	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	136					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GATGCTGTTGGGTGCACTGCT	0.483													47	90					1.00953e-15	1.31934e-15	1	0	T	141464364	G	T	141464364	3	4	47	1	0	0	0	0	1	0	0	0	15663	1232	43	4	408	4	TAS2R3	7	141464364	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2860501	141464364	17674299	243	9121											
MGAM	8972	broad.mit.edu	37	chr7	141764233	141764233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagaccctttgtatggaGagtcagcagatcctcccaga	12	8	10	11	0	1	4	1	0	0	4	3	5	3	4	3	1	2	3	3	1	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:141764233G>T	ENST00000475668.2	+	37	4449	c.4395G>T	c.(4393-4395)gaG>gaT	p.E1465D	MGAM_ENST00000549489.2_Missense_Mutation_p.E1465D			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1465	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTGTATGGAGAGTCAGCAGA	0.572													5	10					0.014758	0.0149249	1	0	T	141764233	G	T	141764233	3	4	47	1	0	0	0	0	1	0	0	0	9610	933	33	2	4537	2	MGAM	7	141764233	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	299869	141764233	17374430	244	9122											
CNTNAP2	26047	broad.mit.edu	37	chr7	146997362	146997362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccccttcaagttaaaactgGcgagaagtacttttttggag	11	13	9	8	1	1	1	1	0	0	1	2	3	2	2	2	2	2	2	2	2	5	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:146997362G>T	ENST00000361727.3	+	9	1994	c.1478G>T	c.(1477-1479)gGc>gTc	p.G493V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	493	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTTAAAACTGGCGAGAAGTAC	0.373										HNSCC(39;0.1)			22	57					4.26978e-12	5.33509e-12	1	0	T	146997362	G	T	146997362	3	4	47	1	0	0	0	0	1	0	0	0	3677	1203	42	4	1512	4	CNTNAP2	7	146997362	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	5233129	146997362	12141301	245	9123											
CNTNAP2	26047	broad.mit.edu	37	chr7	147914428	147914428	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctacgatataactttcAggcaccagcaacaaatgcca	14	8	8	11	1	1	0	1	0	0	0	1	1	1	0	2	2	5	3	2	2	5	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:147914428A>T	ENST00000361727.3	+	19	3575	c.3059A>T	c.(3058-3060)cAg>cTg	p.Q1020L	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.Q79L	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1020					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TATAACTTTCAGGCACCAGCA	0.498										HNSCC(39;0.1)			64	100					0	0	0	0	T	147914428	A	T	147914428	3	4	47	1	0	0	0	0	1	0	0	0	3677	188	7	5	3133	5	CNTNAP2	7	147914428	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	917066	147914428	11224235	246	9124											
ABCB8	11194	broad.mit.edu	37	chr7	150738275	150738275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgggacctgcgcacccttGacccctcctggctccggggc	3	6	14	18	3	0	1	0	1	0	0	2	2	2	2	6	5	1	2	6	5	0	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:150738275G>A	ENST00000358849.4	+	13	1666	c.1573G>A	c.(1573-1575)Gac>Aac	p.D525N	ABCB8_ENST00000542328.1_Missense_Mutation_p.D437N|ABCB8_ENST00000498578.1_Missense_Mutation_p.D525N|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.D542N	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	542	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGCACCCTTGACCCCTCCTG	0.687													17	45					0	0	0	0	A	150738275	G	A	150738275	3	1	47	1	0	0	0	0	1	0	0	0	47	1290	45	2	1623	2	ABCB8	7	150738275	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2823847	150738275	8400388	247	9125											
SLC4A2	6522	broad.mit.edu	37	chr7	150767628	150767628	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactgctggagaagattcctGagaatgccgaggccacggtg	11	7	14	9	2	0	3	0	1	0	3	1	6	1	3	3	3	3	1	3	3	3	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:150767628G>C	ENST00000485713.1	+	11	2574	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q	SLC4A2_ENST00000392826.2_Missense_Mutation_p.E503Q|SLC4A2_ENST00000310317.5_Missense_Mutation_p.E430Q|SLC4A2_ENST00000461735.1_Missense_Mutation_p.E498Q|SLC4A2_ENST00000413384.2_Missense_Mutation_p.E512Q	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	512					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			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)		GAAGATTCCTGAGAATGCCGA	0.617													5	27					0	0	0	0	C	150767628	G	C	150767628	3	2	47	1	0	0	0	0	1	0	0	0	14742	1291	45	2	1572	2	SLC4A2	7	150767628	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	29353	150767628	8371035	248	9126											
DPP6	1804	broad.mit.edu	37	chr7	154561180	154561180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctccggatggcacgagaCtcgcctacgccgccatcaat	8	7	11	15	5	2	1	1	0	1	1	4	3	2	2	4	3	1	1	4	3	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:154561180C>A	ENST00000404039.1	+	9	1332	c.745C>A	c.(745-747)Ctc>Atc	p.L249I	DPP6_ENST00000332007.3_Missense_Mutation_p.L251I|DPP6_ENST00000427557.1_Missense_Mutation_p.L206I|DPP6_ENST00000377770.3_Missense_Mutation_p.L313I	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	313					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGGCACGAGACTCGCCTACGC	0.522													8	31					5.18039e-06	5.70938e-06	1	0	A	154561180	C	A	154561180	3	1	47	1	0	0	0	0	1	0	0	0	4766	565	20	4	1087	4	DPP6	7	154561180	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	3793552	154561180	4577483	249	9127											
DPP6	1804	broad.mit.edu	37	chr7	154679436	154679436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatggacttgacaacagaGcatacgaggtgtgtatgggc	11	9	13	8	1	0	2	0	1	0	1	1	4	1	3	1	3	3	2	1	3	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:154679436G>T	ENST00000404039.1	+	23	2691	c.2104G>T	c.(2104-2106)Gca>Tca	p.A702S	DPP6_ENST00000332007.3_Missense_Mutation_p.A704S|DPP6_ENST00000427557.1_Missense_Mutation_p.A659S|DPP6_ENST00000377770.3_Missense_Mutation_p.A766S	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	766					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.A702T(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGACAACAGAGCATACGAGGT	0.577													73	210					3.82405e-32	5.45297e-32	1	0	T	154679436	G	T	154679436	3	4	47	1	0	0	0	0	1	0	0	0	4766	971	34	4	2502	4	DPP6	7	154679436	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	118256	154679436	4459227	250	9128											
PAXIP1	22976	broad.mit.edu	37	chr7	154738435	154738435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccggaaagatggctgcttgGataacacctttcctcctgca	9	11	9	12	1	0	1	0	0	0	1	3	3	3	3	4	3	3	3	4	3	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:154738435G>T	ENST00000404141.1	-	18	3165	c.3011C>A	c.(3010-3012)tCc>tAc	p.S1004Y	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.S1004Y			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1004	BRCT 6.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TGGCTGCTTGGATAACACCTT	0.473													7	24					8.12818e-05	8.56607e-05	1	0	T	154738435	G	T	154738435	3	4	47	1	0	0	0	0	1	0	0	0	11558	1174	41	2	214	2	PAXIP1	7	154738435	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	58999	154738435	4400228	251	9129											
VIPR2	7434	broad.mit.edu	37	chr7	158896469	158896469	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctctcatcctccgggtcGctgtagccacaggcatcgac	6	10	10	15	3	1	0	1	0	1	0	6	1	3	0	3	2	2	4	3	2	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr7:158896469G>C	ENST00000262178.2	-	4	521	c.336C>G	c.(334-336)agC>agG	p.S112R	VIPR2_ENST00000402066.1_Missense_Mutation_p.S253R	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	112					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCTCCGGGTCGCTGTAGCCAC	0.532													22	66					0	0	0	0	C	158896469	G	C	158896469	3	2	47	1	0	0	0	0	1	0	0	0	17266	1078	38	3	1020	3	VIPR2	7	158896469	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	4158034	158896469	242194	252	9130											
UNC5D	137970	broad.mit.edu	37	chr8	35624527	35624527	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtcctgcaaaatctgCattcggcagctcaaaggcca	11	8	9	13	1	2	0	1	0	1	0	4	0	3	0	2	2	4	5	2	2	3	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:35624527C>A	ENST00000287272.2	+	14	2234	c.2214C>A	c.(2212-2214)tgC>tgA	p.C738*	UNC5D_ENST00000420357.1_Nonsense_Mutation_p.C740*|UNC5D_ENST00000453357.2_Nonsense_Mutation_p.C802*|UNC5D_ENST00000449677.1_Nonsense_Mutation_p.C383*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.C812*|UNC5D_ENST00000404895.2_Nonsense_Mutation_p.C807*			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	807					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCAAAATCTGCATTCGGCAGC	0.552													25	187					3.08376e-08	3.54208e-08	1	0	A	35624527	C	A	35624527	4	1	47	1	0	0	0	0	0	1	0	0	17091	718	25	4	2479	4	UNC5D	8	35624527	Nonsense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08		35624527	110739495	253	9131											
LSM1	27257	broad.mit.edu	37	chr8	38033818	38033818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctcgatgaggctggcGgtgccaggcatatagttcat	8	11	13	9	2	1	1	1	1	0	0	3	2	2	1	2	4	1	3	2	4	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:38033818G>A	ENST00000311351.4	-	1	416	c.21C>T	c.(19-21)acC>acT	p.T7T	LSM1_ENST00000520755.1_Silent_p.T7T|LSM1_ENST00000522515.1_5'UTR	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)	7					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					TGAGGCTGGCGGTGCCAGGCA	0.587													9	44					0	0	0	0	A	38033818	G	A	38033818	2	1	47	1	0	0	0	0	0	0	0	1	9114	1103	39	1		1	LSM1	8	38033818	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2409291	38033818	108330204	254	9132											
IKBKB	3551	broad.mit.edu	37	chr8	42178273	42178273	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaacgaagtgaaactcctGgtagaacggatgatggctct	13	8	13	7	2	1	4	0	2	1	2	2	7	2	5	1	3	3	2	1	3	5	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:42178273G>C	ENST00000520810.1	+	16	1785	c.1599G>C	c.(1597-1599)ctG>ctC	p.L533L	IKBKB_ENST00000379708.3_Silent_p.L310L|IKBKB_ENST00000416505.2_Silent_p.L474L|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.L531L	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	533					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TGAAACTCCTGGTAGAACGGA	0.557													35	207					0	0	0	0	C	42178273	G	C	42178273	2	2	47	1	0	0	0	0	0	0	0	1	7664	1335	47	4		4	IKBKB	8	42178273	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	4144455	42178273	104185749	255	9133											
PCMTD1	115294	broad.mit.edu	37	chr8	52733197	52733197	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaatccccttggcctgcAtctcatcatttatgaaattt	10	14	7	10	0	2	1	2	1	1	0	4	3	3	2	3	2	1	1	3	2	3	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:52733197A>G	ENST00000360540.5	-	7	1194	c.788T>C	c.(787-789)aTg>aCg	p.M263T	PCMTD1_ENST00000544451.1_Missense_Mutation_p.M187T|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.M263T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	263						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CTTGGCCTGCATCTCATCATT	0.398													8	108					0	0	0	0	G	52733197	A	G	52733197	3	3	47	1	0	0	0	0	1	0	0	0	11657	217	8	5	289	5	PCMTD1	8	52733197	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	10554924	52733197	93630825	256	9134											
SOX17	64321	broad.mit.edu	37	chr8	55372293	55372293	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaccagcaccacccccCgggccccggacagccgtcgc	7	1	10	23	4	0	0	0	0	0	0	1	1	0	1	9	2	3	2	9	2	0	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:55372293C>A	ENST00000297316.4	+	2	1187	c.983C>A	c.(982-984)cCg>cAg	p.P328Q		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	328	Gln/Pro-rich.|Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			caccaCCCCCCGGGCCCCGGA	0.766													4	2					0.150653	0.151379	1	0	A	55372293	C	A	55372293	3	1	47	1	0	0	0	0	1	0	0	0	15035	652	23	3	989	3	SOX17	8	55372293	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	2639096	55372293	90991729	257	9135											
CHD7	55636	broad.mit.edu	37	chr8	61749499	61749499	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtacaagggcaggaggtttAggcattaacctcactgctgc	10	10	12	9	0	1	0	1	0	0	0	1	1	1	1	1	4	4	5	1	4	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:61749499A>G	ENST00000423902.2	+	17	4592	c.4113A>G	c.(4111-4113)ttA>ttG	p.L1371L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1371	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGAGGTTTAGGCATTAACC	0.483													45	103					0	0	0	0	G	61749499	A	G	61749499	2	3	47	1	0	0	0	0	0	0	0	1	3359	417	15	5		5	CHD7	8	61749499	Silent	SNP	A	TCGA-BB-7871-01A-11D-2229-08	6377206	61749499	84614523	258	9136											
GGH	8836	broad.mit.edu	37	chr8	63938856	63938856	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtctccatcatcaaaactCtttgcaagtggaaaaagaga	16	10	7	8	0	4	1	2	0	2	1	5	3	4	2	1	1	2	1	1	1	6	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:63938856C>G	ENST00000260118.6	-	5	763		c.e5-1		GGH_ENST00000518113.1_Splice_Site	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)						glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	CATCAAAACTCTTTGCAAGTG	0.368													11	32					0	0	0	0	G	63938856	C	G	63938856	5	3	47	1	0	0	0	0	0	0	1	0	6408	927	32	2	616	2	GGH	8	63938856	Splice_Site	SNP	C	TCGA-BB-7871-01A-11D-2229-08	2189357	63938856	82425166	259	9137											
ZFHX4	79776	broad.mit.edu	37	chr8	77764852	77764852	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatccatcccaccacccCgaatagcttcaggggccaga	12	5	7	17	1	1	1	1	0	0	1	3	2	3	1	7	2	2	1	7	2	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:77764852C>A	ENST00000521891.2	+	10	6143	c.5695C>A	c.(5695-5697)Cga>Aga	p.R1899R	ZFHX4_ENST00000050961.6_Silent_p.R1854R|ZFHX4_ENST00000455469.2_Silent_p.R1854R|ZFHX4_ENST00000518282.1_Silent_p.R1873R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1854						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCACCACCCCGAATAGCTTC	0.428										HNSCC(33;0.089)			11	27					1.33987e-11	1.66091e-11	1	0	A	77764852	C	A	77764852	2	1	47	1	0	0	0	0	0	0	0	1	17730	644	23	3		3	ZFHX4	8	77764852	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	13825996	77764852	68599170	260	9138											
RALYL	138046	broad.mit.edu	37	chr8	85799862	85799862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagaagaagcaattggaaGagagtctagtgctgatccaa	15	8	11	7	0	2	4	1	1	1	3	3	6	3	5	1	1	2	2	1	1	6	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:85799862G>C	ENST00000521268.1	+	8	1814	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	RALYL_ENST00000521376.1_Intron|RALYL_ENST00000522455.1_Missense_Mutation_p.E237Q|RALYL_ENST00000518566.1_Missense_Mutation_p.E226Q|RALYL_ENST00000521695.1_Missense_Mutation_p.E237Q|RALYL_ENST00000517638.1_Missense_Mutation_p.E250Q|RALYL_ENST00000523850.1_Missense_Mutation_p.E164Q	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	237							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GCAATTGGAAGAGAGTCTAGT	0.483													35	67					0	0	0	0	C	85799862	G	C	85799862	3	2	47	1	0	0	0	0	1	0	0	0	13102	943	33	2	778	2	RALYL	8	85799862	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	8035010	85799862	60564160	261	9139											
CNGB3	54714	broad.mit.edu	37	chr8	87738761	87738761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttattaaatgctcacctGtttggaccttctttcccggg	6	17	8	10	1	2	0	1	0	1	0	3	1	3	1	3	2	1	3	3	2	3	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:87738761G>T	ENST00000320005.5	-	3	383	c.336C>A	c.(334-336)aaC>aaA	p.N112K	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	112					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATGCTCACCTGTTTGGACCTT	0.453													74	130					4.37588e-27	6.1696e-27	1	0	T	87738761	G	T	87738761	3	4	47	1	0	0	0	0	1	0	0	0	3631	1368	48	4	2157	4	CNGB3	8	87738761	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1938899	87738761	58625261	262	9140											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885094	88885094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcccccgaggcgagaaGagaaggccacactgggaatg	13	2	16	10	2	0	2	0	0	0	2	0	7	0	4	3	4	1	0	3	4	4	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:88885094G>T	ENST00000319675.3	-	1	1202	c.1106C>A	c.(1105-1107)tCt>tAt	p.S369Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	369										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAGGCGAGAAGAGAAGGCCAC	0.587													19	47					4.35082e-09	5.10996e-09	1	0	T	88885094	G	T	88885094	3	4	47	1	0	0	0	0	1	0	0	0	4305	942	33	2	85	2	DCAF4L2	8	88885094	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1146333	88885094	57478928	263	9141											
RUNX1T1	862	broad.mit.edu	37	chr8	92982910	92982910	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaatcctcctgctgattGataactgccagtgcgtcctc	7	13	8	13	1	0	3	0	3	0	0	4	3	3	3	4	0	4	1	4	0	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:92982910G>T	ENST00000523629.1	-	11	1969	c.1515C>A	c.(1513-1515)atC>atA	p.I505I	RUNX1T1_ENST00000518844.1_Silent_p.I478I|RUNX1T1_ENST00000360348.2_Silent_p.I468I|RUNX1T1_ENST00000265814.3_Silent_p.I505I|RUNX1T1_ENST00000436581.2_Silent_p.I516I|RUNX1T1_ENST00000396218.1_Silent_p.I478I|RUNX1T1_ENST00000422361.2_Silent_p.I468I|RUNX1T1_ENST00000520724.1_Silent_p.I468I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	505					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I505M(1)|p.I468M(1)|p.I516M(1)		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)			CCTGCTGATTGATAACTGCCA	0.522													20	41					3.08376e-08	3.54208e-08	1	0	T	92982910	G	T	92982910	2	4	47	1	0	0	0	0	0	0	0	1	13832	1280	45	2		2	RUNX1T1	8	92982910	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	4097816	92982910	53381112	264	9142											
VPS13B	157680	broad.mit.edu	37	chr8	100443889	100443889	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagtgaagcatctcacactAcaggtaaaataaaagttaga	18	8	8	7	0	1	2	1	1	1	1	2	2	1	2	0	1	2	4	0	1	7	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:100443889A>T	ENST00000395996.1	+	22	3318	c.3207A>T	c.(3205-3207)ctA>ctT	p.L1069L	VPS13B_ENST00000357162.2_Silent_p.L1069L|VPS13B_ENST00000358544.2_Silent_p.L1069L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1069					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATCTCACACTACAGGTAAAAT	0.299													9	22					0	0	0	0	T	100443889	A	T	100443889	2	4	47	1	0	0	0	0	0	0	0	1	17286	378	14	5		5	VPS13B	8	100443889	Silent	SNP	A	TCGA-BB-7871-01A-11D-2229-08	7460979	100443889	45920133	265	9143											
CSMD3	114788	broad.mit.edu	37	chr8	113585814	113585814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatttgaagtactactaaGtgtcagtccgcgcatagatg	11	13	10	7	2	1	3	1	2	0	1	2	3	2	3	1	0	2	2	1	0	5	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:113585814G>T	ENST00000297405.5	-	24	4202	c.3958C>A	c.(3958-3960)Ctt>Att	p.L1320I	CSMD3_ENST00000343508.3_Missense_Mutation_p.L1280I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L1216I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L1320I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1320	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTACTACTAAGTGTCAGTCCG	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	110					1.04121e-07	1.18725e-07	1	0	T	113585814	G	T	113585814	3	4	47	1	0	0	0	0	1	0	0	0	3978	1029	36	4	7357	4	CSMD3	8	113585814	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	13141925	113585814	32778208	266	9144											
NOV	4856	broad.mit.edu	37	chr8	120435139	120435139	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacctgcagttcaagaacTgcaccagcctgcacacctac	11	7	6	17	0	1	1	1	0	0	1	2	1	2	1	5	0	6	4	5	0	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:120435139T>A	ENST00000259526.3	+	5	1068	c.841T>A	c.(841-843)Tgc>Agc	p.C281S	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	281	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTCAAGAACTGCACCAGCCT	0.488													38	102					0	0	0	0	A	120435139	T	A	120435139	3	1	47	1	0	0	0	0	1	0	0	0	10623	1580	55	5	859	5	NOV	8	120435139	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	6849325	120435139	25928883	267	9145											
TAF2	6873	broad.mit.edu	37	chr8	120831623	120831623	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaacttccaaggttgggtCattataaataaaagcagcct	16	10	7	8	0	1	0	1	0	0	0	2	0	2	0	2	2	3	2	2	2	7	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:120831623C>G	ENST00000378164.2	-	3	560	c.262G>C	c.(262-264)Gac>Cac	p.D88H		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	88					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AAGGTTGGGTCATTATAAATA	0.318													28	102					0	0	0	0	G	120831623	C	G	120831623	3	3	47	1	0	0	0	0	1	0	0	0	15615	826	29	2	3433	2	TAF2	8	120831623	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	396484	120831623	25532399	268	9146											
FAM135B	51059	broad.mit.edu	37	chr8	139164215	139164215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccctgctggttgtcagcatCtaaaactatctccaccaggg	9	10	9	13	0	3	0	1	0	2	0	4	0	3	0	3	2	3	3	3	2	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:139164215C>G	ENST00000395297.1	-	13	2673	c.2503G>C	c.(2503-2505)Gat>Cat	p.D835H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	835										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGTCAGCATCTAAAACTATC	0.527										HNSCC(54;0.14)			22	42					0	0	0	0	G	139164215	C	G	139164215	3	3	47	1	0	0	0	0	1	0	0	0	5490	913	32	2	1749	2	FAM135B	8	139164215	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	18332592	139164215	7199807	269	9147											
COL22A1	169044	broad.mit.edu	37	chr8	139715571	139715571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccaggtaacccgggagggCctgcaggaccagcttcaccc	8	6	12	15	1	1	0	1	0	0	0	2	2	2	2	5	4	3	3	5	4	1	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:139715571C>A	ENST00000303045.6	-	31	2983	c.2537G>T	c.(2536-2538)gGc>gTc	p.G846V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G846V|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	846	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCGGGAGGGCCTGCAGGACC	0.478										HNSCC(7;0.00092)			11	29					1.08611e-07	1.22948e-07	1	0	A	139715571	C	A	139715571	3	1	47	1	0	0	0	0	1	0	0	0	3711	739	26	4	2483	4	COL22A1	8	139715571	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	551356	139715571	6648451	270	9148											
COL22A1	169044	broad.mit.edu	37	chr8	139737680	139737680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacaccagggggtcctggagGgccctgtagagaaagagcat	11	5	16	9	0	0	2	0	0	0	2	1	5	1	3	3	4	1	2	3	4	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:139737680G>T	ENST00000303045.6	-	24	2589	c.2143C>A	c.(2143-2145)Cct>Act	p.P715T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P715T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	715	Collagen-like 5.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P715S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTCCTGGAGGGCCCTGTAGA	0.577										HNSCC(7;0.00092)			33	65					8.88839e-20	1.21488e-19	1	0	T	139737680	G	T	139737680	3	4	47	1	0	0	0	0	1	0	0	0	3711	1232	43	4	2905	4	COL22A1	8	139737680	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	22109	139737680	6626342	271	9149											
CYP11B1	1584	broad.mit.edu	37	chr8	143957720	143957720	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcatctggcgacagttcCgcattcaacaggagctccgc	9	8	11	13	3	2	0	1	0	1	0	4	2	4	1	2	3	2	4	2	3	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:143957720C>T	ENST00000292427.4	-	5	923	c.891G>A	c.(889-891)gcG>gcA	p.A297A	CYP11B1_ENST00000517471.1_Silent_p.A297A|CYP11B1_ENST00000377675.3_Silent_p.A368A	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	297					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCGACAGTTCCGCATTCAACA	0.582									Familial Hyperaldosteronism type I				12	36					0	0	0	0	T	143957720	C	T	143957720	2	4	47	1	0	0	0	0	0	0	0	1	4177	639	23	1		1	CYP11B1	8	143957720	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	4220040	143957720	2406302	272	9150											
PARP10	84875	broad.mit.edu	37	chr8	145058724	145058724	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcacccgaaagccagtCatatccggtccttcaagtgg	10	9	8	14	2	4	0	4	0	0	0	6	1	6	0	4	2	1	0	4	2	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:145058724C>A	ENST00000313028.7	-	5	1540	c.1446G>T	c.(1444-1446)atG>atT	p.M482I	PARP10_ENST00000525773.1_Missense_Mutation_p.M494I|PARP10_ENST00000524918.1_Missense_Mutation_p.M482I	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	482						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAAGCCAGTCATATCCGGTC	0.582													25	49					2.21704e-12	2.79248e-12	1	0	A	145058724	C	A	145058724	3	1	47	1	0	0	0	0	1	0	0	0	11526	826	29	2	1659	2	PARP10	8	145058724	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1101004	145058724	1305298	273	9151											
ZNF7	7553	broad.mit.edu	37	chr8	146068370	146068370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctttgtgagccgtaaaaaGgttaatactataaagaaact	17	11	7	6	1	0	2	0	1	0	1	0	2	0	2	2	1	3	2	2	1	9	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr8:146068370G>A	ENST00000528372.1	+	5	2118	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K	ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Silent_p.K530K|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000325241.6_Silent_p.K626K|ZNF7_ENST00000446747.2_Silent_p.K637K			P17097	ZNF7_HUMAN	zinc finger protein 7	626					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GCCGTAAAAAGGTTAATACTA	0.433													19	65					0	0	0	0	A	146068370	G	A	146068370	2	1	47	1	0	0	0	0	0	0	0	1	18197	991	35	4		4	ZNF7	8	146068370	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1009646	146068370	295652	274	9152											
IL33	90865	broad.mit.edu	37	chr9	6252955	6252955	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggatgaaagttatgagAtatatgttgaagacttgaaa	16	12	12	1	0	0	5	0	4	0	2	0	8	0	7	0	2	0	2	0	2	6	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:6252955A>G	ENST00000381434.3	+	4	446	c.433A>G	c.(433-435)Ata>Gta	p.I145V	IL33_ENST00000456383.2_Intron|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	145					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AAGTTATGAGATATATGTTGA	0.264													9	15					0	0	0	0	G	6252955	A	G	6252955	3	3	47	1	0	0	0	0	1	0	0	0	7746	333	12	5	447	5	IL33	9	6252955	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08		6252955	134960476	275	9153											
LINGO2	158038	broad.mit.edu	37	chr9	27949502	27949502	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaatccttgaaagacctctCacggatggtgtctgggccag	10	9	12	10	1	2	2	1	1	2	1	4	4	3	3	3	3	0	0	3	3	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:27949502C>G	ENST00000379992.2	-	6	1617	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	LINGO2_ENST00000308675.3_Missense_Mutation_p.E390Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	390	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AAAGACCTCTCACGGATGGTG	0.507													21	74					0	0	0	0	G	27949502	C	G	27949502	3	3	47	1	0	0	0	0	1	0	0	0	8870	835	29	2	656	2	LINGO2	9	27949502	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	21696547	27949502	113263929	276	9154											
TLN1	7094	broad.mit.edu	37	chr9	35720872	35720872	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgctccccttcagttgtCtgtactgagtaatagccatc	8	14	7	12	0	3	1	1	1	2	0	5	1	4	1	3	0	3	4	3	0	3	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:35720872C>G	ENST00000314888.9	-	11	1496	c.1143G>C	c.(1141-1143)caG>caC	p.Q381H	TLN1_ENST00000540444.1_Missense_Mutation_p.Q381H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	381	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTTCAGTTGTCTGTACTGAGT	0.493													19	56					0	0	0	0	G	35720872	C	G	35720872	3	3	47	1	0	0	0	0	1	0	0	0	16041	912	32	2	6670	2	TLN1	9	35720872	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	7771370	35720872	105492559	277	9155											
MELK	9833	broad.mit.edu	37	chr9	36677296	36677296	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgatgcctgggtttacaaaAgattagtggaagacatccta	13	10	11	7	1	0	2	0	0	0	2	1	4	1	3	2	2	2	1	2	2	6	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:36677296A>T	ENST00000543751.1	+	17	1967	c.1822A>T	c.(1822-1824)Aga>Tga	p.R608*	MELK_ENST00000541717.1_Nonsense_Mutation_p.R599*|MELK_ENST00000298048.2_Nonsense_Mutation_p.R640*|MELK_ENST00000538311.1_Nonsense_Mutation_p.R446*|MELK_ENST00000545008.1_Nonsense_Mutation_p.R569*|MELK_ENST00000536987.1_Nonsense_Mutation_p.R509*|MELK_ENST00000536860.1_Nonsense_Mutation_p.R592*|MELK_ENST00000536329.1_Nonsense_Mutation_p.R569*	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	640	KA1.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GGTTTACAAAAGATTAGTGGA	0.458													12	24					0	0	0	0	T	36677296	A	T	36677296	4	4	47	1	0	0	0	0	0	1	0	0	9539	64	3	5	1984	5	MELK	9	36677296	Nonsense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	956424	36677296	104536135	278	9156											
FRMPD1	22844	broad.mit.edu	37	chr9	37733514	37733514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatatctccaactttactccGaaacatgaaaggcaaagaca	17	9	5	10	1	1	2	0	1	1	1	3	3	2	2	2	1	3	1	2	1	7	4	rs148144624		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:37733514G>A	ENST00000539465.1	+	11	1633	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q	FRMPD1_ENST00000377765.3_Missense_Mutation_p.R347Q|FRMPD1_ENST00000536622.1_Missense_Mutation_p.R169Q|FRMPD1_ENST00000541302.1_Missense_Mutation_p.R216Q|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	347	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACTTTACTCCGAAACATGAAA	0.453													25	43					0	0	0	0	A	37733514	G	A	37733514	3	1	47	1	0	0	0	0	1	0	0	0	6105	1058	37	1	1078	1	FRMPD1	9	37733514	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1056218	37733514	103479917	279	9157											
IARS	3376	broad.mit.edu	37	chr9	95018990	95018990	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtctcaaagaagccaatGagagactgcatgaaggacag	16	6	11	8	0	2	4	2	2	1	2	3	6	2	5	1	1	2	1	1	1	4	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:95018990G>T	ENST00000375643.3	-	20	2375	c.2109C>A	c.(2107-2109)ctC>ctA	p.L703L	IARS_ENST00000443024.2_Silent_p.L703L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Silent_p.L593L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	703					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGAAGCCAATGAGAGACTGCA	0.433													23	51					1.36565e-18	1.83454e-18	1	0	T	95018990	G	T	95018990	2	4	47	1	0	0	0	0	0	0	0	1	7526	1277	45	2		2	IARS	9	95018990	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	57285476	95018990	46194441	280	9158											
ANKS6	203286	broad.mit.edu	37	chr9	101540676	101540676	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcagtttgagctttcGgaaccgattggacattcggt	8	13	11	9	3	1	1	1	1	0	0	3	4	1	3	1	3	3	3	1	3	1	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:101540676G>A	ENST00000353234.4	-	7	1446	c.1399C>T	c.(1399-1401)Cga>Tga	p.R467*	ANKS6_ENST00000375018.1_Nonsense_Mutation_p.R467*|ANKS6_ENST00000540940.1_Nonsense_Mutation_p.R272*|ANKS6_ENST00000375019.2_Nonsense_Mutation_p.R166*			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	467										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTGAGCTTTCGGAACCGATTG	0.587													12	29					0	0	0	0	A	101540676	G	A	101540676	4	1	47	1	0	0	0	0	0	1	0	0	691	1124	39	1	1252	1	ANKS6	9	101540676	Nonsense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	6521686	101540676	39672755	281	9159											
SVEP1	79987	broad.mit.edu	37	chr9	113208148	113208148	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaggagcaaggtattgtCgctgccgttatcaactgcat	10	11	11	9	2	2	0	2	0	0	0	3	1	2	1	1	2	4	5	1	2	4	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:113208148C>A	ENST00000401783.2	-	26	4768	c.4432G>T	c.(4432-4434)Gac>Tac	p.D1478Y	SVEP1_ENST00000374469.1_Missense_Mutation_p.D1455Y|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1478Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1478	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAGGTATTGTCGCTGCCGTTA	0.453													33	72					5.91797e-21	8.2143e-21	1	0	A	113208148	C	A	113208148	3	1	47	1	0	0	0	0	1	0	0	0	15510	884	31	3	6375	3	SVEP1	9	113208148	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	11667472	113208148	28005283	282	9160											
SLC27A4	10999	broad.mit.edu	37	chr9	131107796	131107796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccacctcgcgcgcacGggcccttgtctttggcagcg	4	8	11	18	5	2	0	1	0	1	0	3	0	2	0	4	2	1	2	4	2	0	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:131107796G>A	ENST00000300456.3	+	3	641	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	175					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TCGCGCGCACGGGCCCTTGTC	0.642													5	8					0	0	0	0	A	131107796	G	A	131107796	3	1	47	1	0	0	0	0	1	0	0	0	14616	1116	39	1	530	1	SLC27A4	9	131107796	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	17899648	131107796	10105635	283	9161											
SPTAN1	6709	broad.mit.edu	37	chr9	131365869	131365869	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacctttaattccatcaaGgtaagaagcagtgaccagct	13	9	8	11	0	1	2	1	1	0	1	2	2	2	2	4	1	2	3	4	1	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:131365869G>A	ENST00000372739.3	+	28	3737	c.3627_splice	c.e28+1	p.K1209_splice	SPTAN1_ENST00000358161.5_Splice_Site_p.K1209_splice|SPTAN1_ENST00000372731.4_Splice_Site_p.K1209_splice	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1209					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATTCCATCAAGGTAAGAAGCA	0.493													42	108					0	0	0	0	A	131365869	G	A	131365869	5	1	47	1	0	0	0	0	0	0	1	0	15207	1014	35	4	3733	4	SPTAN1	9	131365869	Splice_Site	SNP	G	TCGA-BB-7871-01A-11D-2229-08	258073	131365869	9847562	284	9162											
VAV2	7410	broad.mit.edu	37	chr9	136641200	136641200	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcggccggctgatgggCggctggtggcagagcacaag	7	5	20	9	3	0	2	0	1	0	1	0	3	0	2	1	7	1	4	1	7	1	0	rs150295787		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:136641200C>A	ENST00000371851.1	-	22	2263	c.1938G>T	c.(1936-1938)ccG>ccT	p.P646P	VAV2_ENST00000406606.3_Silent_p.P646P|VAV2_ENST00000371850.3_Silent_p.P656P			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	656	SH3 1.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGCTGATGGGCGGCTGGTGGC	0.617													27	51					5.77227e-19	7.80441e-19	1	0	A	136641200	C	A	136641200	2	1	47	1	0	0	0	0	0	0	0	1	17228	755	27	3		3	VAV2	9	136641200	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	5275331	136641200	4572231	285	9163											
PNPLA7	375775	broad.mit.edu	37	chr9	140395161	140395161	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actcatagaagtgggccttgGagatggacaggaagctgcag	12	7	15	7	0	1	2	1	0	0	2	1	5	1	4	1	4	2	2	1	4	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr9:140395161G>C	ENST00000406427.1	-	16	2075	c.1739C>G	c.(1738-1740)tCc>tGc	p.S580C	PNPLA7_ENST00000371457.1_Missense_Mutation_p.S161C|PNPLA7_ENST00000277531.4_Missense_Mutation_p.S555C	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	555					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTGGGCCTTGGAGATGGACAG	0.697													5	30					0	0	0	0	C	140395161	G	C	140395161	3	2	47	1	0	0	0	0	1	0	0	0	12242	1174	41	2	2369	2	PNPLA7	9	140395161	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	3753961	140395161	818270	286	9164											
MLLT10	8028	broad.mit.edu	37	chr10	21962413	21962413	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcccaacagtcatcagcaAccaaagatgtacataaagga	18	6	6	11	0	2	1	2	0	0	1	3	2	3	2	2	1	4	2	2	1	6	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:21962413A>T	ENST00000377072.3	+	11	1534	c.1186A>T	c.(1186-1188)Acc>Tcc	p.T396S	MLLT10_ENST00000377059.3_Missense_Mutation_p.T396S|MLLT10_ENST00000307729.7_Missense_Mutation_p.T396S|MLLT10_ENST00000446906.2_Missense_Mutation_p.T396S	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	396	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GTCATCAGCAACCAAAGATGT	0.458			T	"MLL, PICALM, CDK6"	AL								51	97					0	0	0	0	T	21962413	A	T	21962413	3	4	47	1	0	0	0	0	1	0	0	0	9695	43	2	5	1224	5	MLLT10	10	21962413	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08		21962413	113572334	287	9165											
ANKRD26	22852	broad.mit.edu	37	chr10	27375501	27375501	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaagaatgtttaggtaTcctttcttctttatattctg	9	20	7	5	0	3	2	0	1	3	2	4	3	4	2	1	1	0	2	1	1	6	10			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:27375501T>C	ENST00000376087.4	-	5	841	c.676A>G	c.(676-678)Ata>Gta	p.I226V	ANKRD26_ENST00000436985.2_Missense_Mutation_p.I226V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	226						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGTTTAGGTATCCTTTCTTCT	0.264													15	37					0	0	0	0	C	27375501	T	C	27375501	3	2	47	1	0	0	0	0	1	0	0	0	654	1435	50	5	4576	5	ANKRD26	10	27375501	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	5413088	27375501	108159246	288	9166											
MKX	283078	broad.mit.edu	37	chr10	28023599	28023599	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccacgtagtcctcactGgcccgtgactctggcctcac	5	9	11	16	2	3	1	2	1	1	0	4	1	4	1	4	3	1	1	4	3	1	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:28023599G>T	ENST00000375790.5	-	5	1056	c.624C>A	c.(622-624)gcC>gcA	p.A208A	MKX_ENST00000419761.1_Silent_p.A208A			Q8IYA7	MKX_HUMAN	mohawk homeobox	208					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						AGTCCTCACTGGCCCGTGACT	0.502													36	85					1.08052e-11	1.34207e-11	1	0	T	28023599	G	T	28023599	2	4	47	1	0	0	0	0	0	0	0	1	9679	1335	47	4		4	MKX	10	28023599	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	648098	28023599	107511148	289	9167											
ARMC4	55130	broad.mit.edu	37	chr10	28260117	28260117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcctccaaaaattaatttgGttcttctccagtgacctttt	9	18	4	10	0	2	1	0	1	2	0	5	1	4	1	4	1	0	1	4	1	3	7			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:28260117G>T	ENST00000305242.5	-	8	1154	c.1062C>A	c.(1060-1062)aaC>aaA	p.N354K	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.N46K|ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000239715.3_Missense_Mutation_p.N211K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	354							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AATTAATTTGGTTCTTCTCCA	0.413													24	52					3.6726e-16	4.85031e-16	1	0	T	28260117	G	T	28260117	3	4	47	1	0	0	0	0	1	0	0	0	957	1252	44	4	2124	4	ARMC4	10	28260117	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	236518	28260117	107274630	290	9168											
ZEB1	6935	broad.mit.edu	37	chr10	31809695	31809695	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaattatcatcaactacAgtcttgagcagcctagccaa	15	9	5	12	0	3	1	2	1	1	0	3	1	3	1	3	0	5	1	3	0	7	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:31809695A>C	ENST00000446923.2	+	7	1775	c.1384A>C	c.(1384-1386)Agt>Cgt	p.S462R	ZEB1_ENST00000320985.10_Missense_Mutation_p.S478R|ZEB1_ENST00000361642.5_Missense_Mutation_p.S479R|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.S411R|ZEB1_ENST00000560721.2_Missense_Mutation_p.S458R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	478					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CATCAACTACAGTCTTGAGCA	0.378													17	52					0	0	0	0	C	31809695	A	C	31809695	3	2	47	1	0	0	0	0	1	0	0	0	17718	188	7	5	1472	5	ZEB1	10	31809695	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	3549578	31809695	103725052	291	9169											
ZEB1	6935	broad.mit.edu	37	chr10	31812949	31812949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgcccaaaaagaaaatgcGgaagacagaaaatggaatgt	20	4	10	7	2	0	3	0	0	0	3	0	5	0	5	2	2	1	0	2	2	8	0	rs35653460		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:31812949G>T	ENST00000446923.2	+	8	3033	c.2642G>T	c.(2641-2643)cGg>cTg	p.R881L	ZEB1_ENST00000320985.10_Missense_Mutation_p.R897L|ZEB1_ENST00000361642.5_Missense_Mutation_p.R898L|ZEB1_ENST00000542815.3_Missense_Mutation_p.R830L|ZEB1_ENST00000560721.2_Missense_Mutation_p.R877L	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	897					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.R897Q(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAGAAAATGCGGAAGACAGAA	0.373													12	57					2.80697e-09	3.30294e-09	1	0	T	31812949	G	T	31812949	3	4	47	1	0	0	0	0	1	0	0	0	17718	1116	39	3	2734	3	ZEB1	10	31812949	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	3254	31812949	103721798	292	9170											
ITGB1	3688	broad.mit.edu	37	chr10	33199265	33199265	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggacacaggatcaggttGgaccggctggggtaatttgt	9	10	16	6	1	1	0	1	0	0	0	1	3	1	3	1	7	0	3	1	7	1	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:33199265G>A	ENST00000396033.2	-	14	2185	c.2050C>T	c.(2050-2052)Caa>Taa	p.Q684*	ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Q684*|ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Q684*|ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Q684*	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	684					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	p.Q684E(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GGATCAGGTTGGACCGGCTGG	0.428													10	34					0	0	0	0	A	33199265	G	A	33199265	4	1	47	1	0	0	0	0	0	1	0	0	7943	1357	47	4	596	4	ITGB1	10	33199265	Nonsense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1386316	33199265	102335482	293	9171											
PARD3	56288	broad.mit.edu	37	chr10	34805969	34805969	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggtaaggctgaaaggctGagacattgttggtgccaagc	10	10	14	7	0	0	2	0	2	0	1	0	3	0	2	1	4	2	4	1	4	3	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:34805969G>C	ENST00000374789.3	-	3	666	c.341C>G	c.(340-342)tCa>tGa	p.S114*	PARD3_ENST00000374794.3_Nonsense_Mutation_p.S114*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.S114*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.S114*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.S114*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.S114*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.S114*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.S114*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.S114*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.S114*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.S114*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	114					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTGAAAGGCTGAGACATTGTT	0.488													27	61					0	0	0	0	C	34805969	G	C	34805969	4	2	47	1	0	0	0	0	0	1	0	0	11514	1294	45	2	3856	2	PARD3	10	34805969	Nonsense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1606704	34805969	100728778	294	9172											
GRID1	2894	broad.mit.edu	37	chr10	87362282	87362282	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcagaaaggtgctgacCgagagctgggtgttctggta	8	10	16	7	1	2	3	0	1	2	2	2	4	2	3	1	4	2	5	1	4	2	2	rs3750689		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:87362282C>G	ENST00000327946.7	-	16	2863	c.2778G>C	c.(2776-2778)tcG>tcC	p.S926S	GRID1_ENST00000536331.1_Silent_p.S497S|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	926						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGGTGCTGACCGAGAGCTGGG	0.657										Multiple Myeloma(13;0.14)			17	38					0	0	0	0	G	87362282	C	G	87362282	2	3	47	1	0	0	0	0	0	0	0	1	6821	639	23	3		3	GRID1	10	87362282	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	52556313	87362282	48172465	295	9173											
OPN4	94233	broad.mit.edu	37	chr10	88418245	88418245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgtgcccacaggctgCgagttctatgccttctgtgg	4	11	15	11	1	2	0	0	0	2	0	2	1	2	0	2	4	3	3	2	4	1	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:88418245C>T	ENST00000372071.2	+	5	689	c.462C>T	c.(460-462)tgC>tgT	p.C154C	OPN4_ENST00000241891.5_Silent_p.C143C	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	143					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CCACAGGCTGCGAGTTCTATG	0.612													4	38					0	0	0	0	T	88418245	C	T	88418245	2	4	47	1	0	0	0	0	0	0	0	1	10953	776	27	1		1	OPN4	10	88418245	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1055963	88418245	47116502	296	9174											
ABLIM1	3983	broad.mit.edu	37	chr10	116245057	116245057	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctagacacaatgccaaccTgcagagacggagaccgtcct	12	5	10	14	2	0	3	0	0	0	3	1	5	1	3	5	1	3	1	5	1	3	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:116245057T>G	ENST00000392952.3	-	4	501	c.177_splice	c.e4+1	p.Q59_splice	ABLIM1_ENST00000277895.5_Intron|ABLIM1_ENST00000369266.3_Splice_Site_p.Q59_splice|ABLIM1_ENST00000369253.2_Intron|ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369252.4_Intron	NM_006720.3	NP_006711.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	347					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AATGCCAACCTGCAGAGACGG	0.522													4	23					0	0	0	0	G	116245057	T	G	116245057	5	3	47	1	0	0	0	0	0	0	1	0	94	1594	55	5	1356	5	ABLIM1	10	116245057	Splice_Site	SNP	T	TCGA-BB-7871-01A-11D-2229-08	27826812	116245057	19289690	297	9175											
MGMT	4255	broad.mit.edu	37	chr10	131565174	131565174	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccggttggggaagccAggcttgggagggagctcagg	7	5	20	9	1	1	0	1	0	0	0	1	3	1	3	3	8	2	3	3	8	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:131565174A>T	ENST00000306010.7	+	5	662	c.630A>T	c.(628-630)ccA>ccT	p.P210P		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	210										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		TGGGGAAGCCAGGCTTGGGAG	0.652								Direct reversal of damage					14	31					0	0	0	0	T	131565174	A	T	131565174	2	4	47	1	0	0	0	0	0	0	0	1	9626	175	7	5		5	MGMT	10	131565174	Silent	SNP	A	TCGA-BB-7871-01A-11D-2229-08	15320117	131565174	3969573	298	9176											
DPYSL4	10570	broad.mit.edu	37	chr10	134006226	134006226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgacgcccacggcctgatgGtccttcctggtggcgttgac	4	11	13	13	3	0	3	0	3	0	0	2	3	2	3	4	4	0	1	4	4	0	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:134006226G>A	ENST00000338492.4	+	3	357	c.193G>A	c.(193-195)Gtc>Atc	p.V65I	DPYSL4_ENST00000368629.1_5'UTR|DPYSL4_ENST00000493882.1_3'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	65					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CGGCCTGATGGTCCTTCCTGG	0.582													20	45					0	0	0	0	A	134006226	G	A	134006226	3	1	47	1	0	0	0	0	1	0	0	0	4785	1261	44	4	203	4	DPYSL4	10	134006226	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2441052	134006226	1528521	299	9177											
GPR123	84435	broad.mit.edu	37	chr10	134942302	134942302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcatgctgcccgcccCgcaaggacgcccaccccgca	6	3	13	19	4	0	0	0	0	0	0	0	1	0	1	6	3	2	4	6	3	1	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:134942302C>A	ENST00000607359.1	+	16	3127	c.3127C>A	c.(3127-3129)Cgc>Agc	p.R1043S	GPR123_ENST00000392606.2_Missense_Mutation_p.R227S|GPR123_ENST00000392607.3_Missense_Mutation_p.R324S			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	324						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTGCCCGCCCCGCAAGGACGC	0.726													30	18					2.08457e-15	2.71862e-15	1	0	A	134942302	C	A	134942302	3	1	47	1	0	0	0	0	1	0	0	0	6686	652	23	3	992	3	GPR123	10	134942302	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	936076	134942302	592445	300	9178											
KNDC1	85442	broad.mit.edu	37	chr10	135012524	135012524	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacgaagcaaggccaccGagcgcccgggccaggagcca	10	0	13	18	4	0	0	0	0	0	0	0	3	0	1	7	3	3	1	7	3	2	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr10:135012524G>T	ENST00000304613.3	+	14	2533	c.2512G>T	c.(2512-2514)Gag>Tag	p.E838*	KNDC1_ENST00000368571.2_Nonsense_Mutation_p.E773*|KNDC1_ENST00000368572.2_Nonsense_Mutation_p.E838*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	838	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGGCCACCGAGCGCCCGGG	0.751													6	3					8.12818e-05	8.56607e-05	1	0	T	135012524	G	T	135012524	4	4	47	1	0	0	0	0	0	1	0	0	8478	1059	37	3	2566	3	KNDC1	10	135012524	Nonsense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	70222	135012524	522223	301	9179											
KCNQ1	3784	broad.mit.edu	37	chr11	2604772	2604772	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccttctttgcgctcccAgcggtaggtgccccgtgggt	3	12	12	14	3	2	0	0	0	2	0	4	0	3	0	4	3	3	2	4	3	1	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:2604772A>T	ENST00000155840.5	+	7	1137	c.1029A>T	c.(1027-1029)ccA>ccT	p.P343P	KCNQ1_ENST00000335475.5_Silent_p.P216P	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	343					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTGCGCTCCCAGCGGTAGGTG	0.632													30	90					0	0	0	0	T	2604772	A	T	2604772	2	4	47	1	0	0	0	0	0	0	0	1	8135	175	7	5		5	KCNQ1	11	2604772	Silent	SNP	A	TCGA-BB-7871-01A-11D-2229-08		2604772	132401744	302	9180											
OR51B6	390058	broad.mit.edu	37	chr11	5373442	5373442	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggagaaagggccaaggcCctcaacacatgtgtctctca	12	6	12	11	0	3	1	2	0	1	1	4	3	3	2	2	4	1	0	2	4	3	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:5373442C>G	ENST00000380219.1	+	1	705	c.705C>G	c.(703-705)gcC>gcG	p.A235A	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCCAAGGCCCTCAACACAT	0.428													32	65					0	0	0	0	G	5373442	C	G	5373442	2	3	47	1	0	0	0	0	0	0	0	1	11163	610	22	4		4	OR51B6	11	5373442	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	2768670	5373442	129633074	303	9181											
TRIM6	117854	broad.mit.edu	37	chr11	5624484	5624484	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctacctaggattctacAggcaggaaacatcttagaaa	15	10	7	9	0	4	1	1	0	3	1	4	3	4	3	1	3	3	1	1	3	6	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:5624484A>T	ENST00000278302.5	+	0	82				TRIM6_ENST00000380097.3_Missense_Mutation_p.Q9L|HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380107.1_De_novo_Start_OutOfFrame|TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000506134.1_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.Q9L|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000515022.1_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGATTCTACAGGCAGGAAAC	0.473													14	32					0	0	0	0	T	5624484	A	T	5624484	1	4	47	1	0	0	0	0	0	0	0	0	16628	188	7	5		5	TRIM6	11	5624484	Translation_Start_Site	SNP	A	TCGA-BB-7871-01A-11D-2229-08	251042	5624484	129382032	304	9182											
OR56B4	196335	broad.mit.edu	37	chr11	6129115	6129115	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagcactggctctccctgcCcctgactctgctctacctct	4	11	7	19	0	4	1	0	1	4	0	5	1	4	1	4	1	4	4	4	1	1	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:6129115C>A	ENST00000316529.3	+	1	202	c.107C>A	c.(106-108)cCc>cAc	p.P36H		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTCCCTGCCCCTGACTCTG	0.507													16	46					4.7546e-09	5.57375e-09	1	0	A	6129115	C	A	6129115	3	1	47	1	0	0	0	0	1	0	0	0	11209	623	22	4	109	4	OR56B4	11	6129115	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	504631	6129115	128877401	305	9183											
CCKBR	887	broad.mit.edu	37	chr11	6292696	6292696	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccccagggctcttcccgatGaggaccctcccactccctcc	5	7	8	21	1	1	1	0	1	1	0	5	3	5	2	7	2	0	1	7	2	0	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:6292696G>C	ENST00000525462.1	+	4	1477	c.1474G>C	c.(1474-1476)Gag>Cag	p.E492Q	CCKBR_ENST00000532715.1_Missense_Mutation_p.E339Q|CCKBR_ENST00000334619.2_Missense_Mutation_p.E423Q			P32239	GASR_HUMAN	cholecystokinin B receptor	423					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TCTTCCCGATGAGGACCCTCC	0.652													24	52					0	0	0	0	C	6292696	G	C	6292696	3	2	47	1	0	0	0	0	1	0	0	0	2908	1291	45	2	1285	2	CCKBR	11	6292696	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	163581	6292696	128713820	306	9184											
RBMXL2	27288	broad.mit.edu	37	chr11	7111450	7111450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgtgattcttacagcCggtcaggctgcagggtgccc	6	8	13	14	2	2	1	1	1	1	0	2	1	2	1	3	3	5	2	3	3	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:7111450C>T	ENST00000306904.5	+	1	1286	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	367	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTTACAGCCGGTCAGGCTG	0.657													5	16					0	0	0	0	T	7111450	C	T	7111450	3	4	47	1	0	0	0	0	1	0	0	0	13236	643	23	1	1101	1	RBMXL2	11	7111450	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	818754	7111450	127895066	307	9185											
CTR9	9646	broad.mit.edu	37	chr11	10772990	10772991	+	Frame_Shift_Ins	INS	-	-	G																															ctccatcgagattcccctccINSgggacactgacgaggtaagt																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:10772990_10772991insG	ENST00000361367.2	+	1	457_458	c.31_32insG	c.(31-33)ggafs	p.G11fs		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	11					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GATTCCCCTCCGGGACACTGAC	0.619													10	40	---	---	---	---					G	10772991	-	G	10772990	7	5	47	1	0	1	1	0	0	0	0	0	4056	643	23	0	33	0	CTR9	11	10772990	Frame_Shift_Ins	INS	-	TCGA-BB-7871-01A-11D-2229-08	3661540	10772990	124233526	308	9186											
HPS5	11234	broad.mit.edu	37	chr11	18313218	18313219	+	Frame_Shift_Ins	INS	-	-	A																															ataatgttgtcaattcagccINSaggtcgttccgaagaccact																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:18313218_18313219insA	ENST00000396253.3	-	15	2330_2331	c.1868_1869insT	c.(1867-1869)cgcfs	p.R623fs	HPS5_ENST00000438420.2_Frame_Shift_Ins_p.R623fs|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Frame_Shift_Ins_p.R737fs	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	737						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCAATTCAGCCAGGTCGTTCCG	0.431									Hermansky-Pudlak syndrome				47	75	---	---	---	---					A	18313219	-	A	18313218	7	5	47	1	0	1	1	0	0	0	0	0	7392	581	21	0	1210	0	HPS5	11	18313218	Frame_Shift_Ins	INS	-	TCGA-BB-7871-01A-11D-2229-08	7540228	18313218	116693298	309	9187											
IGSF22	283284	broad.mit.edu	37	chr11	18741340	18741340	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaaccatactccatgcAcaccttctcaaagtctttct	11	12	5	13	0	3	1	1	1	3	0	5	1	4	1	3	1	3	1	3	1	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:18741340A>T	ENST00000513874.1	-	7	758	c.619T>A	c.(619-621)Tgc>Agc	p.C207S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	207	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TACTCCATGCACACCTTCTCA	0.507													39	133					0	0	0	0	T	18741340	A	T	18741340	3	4	47	1	0	0	0	0	1	0	0	0	7653	159	6	5	3429	5	IGSF22	11	18741340	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	428122	18741340	116265176	310	9188											
KCNA4	3739	broad.mit.edu	37	chr11	30033372	30033372	+	Missense_Mutation	SNP	G	G	T																															gctttttaaattcattctcgGggagggccctgtcttcctct																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:30033372G>T	ENST00000328224.6	-	2	2087	c.854C>A	c.(853-855)cCc>cAc	p.P285H		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	285						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TTCATTCTCGGGGAGGGCCCT	0.512													21	38					1.00905e-13	1.28387e-13	1	0	T	30033372	G	T	30033372	3	4	47	1	0	0	0	0	1	0	0	0	8058	1232	43	4	1111	4	KCNA4	11	30033372	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	11292032	30033372	104973144	311	9189	87	2									
KCNA4	3739	broad.mit.edu	37	chr11	30033373	30033373	+	Missense_Mutation	SNP	G	G	T																															ctttttaaattcattctcggGgagggccctgtcttcctctt																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:30033373G>T	ENST00000328224.6	-	2	2086	c.853C>A	c.(853-855)Ccc>Acc	p.P285T		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	285						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCATTCTCGGGGAGGGCCCTG	0.517													22	39					6.33239e-15	8.15653e-15	1	0	T	30033373	G	T	30033373	3	4	47	1	0	0	0	0	1	0	0	0	8058	1232	43	4	1112	4	KCNA4	11	30033373	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1	30033373	104973143	312	9190	87	2									
OR4A15	81328	broad.mit.edu	37	chr11	55135910	55135910	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattggaggctttcttcactCattggttcaatttctcttta	7	19	7	8	0	5	0	3	0	2	0	6	2	5	1	0	3	0	2	0	3	2	8			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:55135910C>A	ENST00000314706.3	+	1	551	c.551C>A	c.(550-552)tCa>tAa	p.S184*		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTTCTTCACTCATTGGTTCAA	0.428													44	147					1.23713e-20	1.70582e-20	1	0	A	55135910	C	A	55135910	4	1	47	1	0	0	0	0	0	1	0	0	11111	838	29	2	553	2	OR4A15	11	55135910	Nonsense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	25102537	55135910	79870606	313	9191											
OR5D16	390144	broad.mit.edu	37	chr11	55606889	55606889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcattctgacatcttatgCattcatcattgtcaccacct	10	15	3	13	0	6	1	4	1	2	0	6	1	6	1	2	0	1	1	2	0	1	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:55606889C>T	ENST00000378396.1	+	1	662	c.662C>T	c.(661-663)gCa>gTa	p.A221V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACATCTTATGCATTCATCATT	0.468													27	77					0	0	0	0	T	55606889	C	T	55606889	3	4	47	1	0	0	0	0	1	0	0	0	11227	710	25	4	664	4	OR5D16	11	55606889	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	470979	55606889	79399627	314	9192											
OR5M1	390168	broad.mit.edu	37	chr11	56380683	56380683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgaagagaagacactgtGtgaagcatccagcgtaggag	14	6	14	7	2	0	4	0	2	0	2	1	7	1	5	1	1	2	2	1	1	4	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:56380683G>T	ENST00000526538.1	-	1	295	c.296C>A	c.(295-297)aCa>aAa	p.T99K		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGACACTGTGTGAAGCATCC	0.443													18	43					5.03518e-11	6.16835e-11	1	0	T	56380683	G	T	56380683	3	4	47	1	0	0	0	0	1	0	0	0	11243	1377	48	4	655	4	OR5M1	11	56380683	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	773794	56380683	78625833	315	9193											
LRRC55	219527	broad.mit.edu	37	chr11	56954744	56954744	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctggctgagtgccggggCcctcctgaagtcgagggcgc	5	6	17	13	3	0	2	0	2	0	0	2	3	1	2	3	4	2	2	3	4	1	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:56954744C>A	ENST00000497933.1	+	2	963	c.816C>A	c.(814-816)ggC>ggA	p.G272G		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	242						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						AGTGCCGGGGCCCTCCTGAAG	0.587													15	80					2.32078e-09	2.74115e-09	1	0	A	56954744	C	A	56954744	2	1	47	1	0	0	0	0	0	0	0	1	9075	726	26	4		4	LRRC55	11	56954744	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	574061	56954744	78051772	316	9194											
CTNND1	1500	broad.mit.edu	37	chr11	57578936	57578936	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgatagtactctccctctCattgaccggaaccaaaaatc	13	10	6	12	1	2	2	1	2	2	0	5	4	2	3	3	1	2	1	3	1	5	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:57578936C>G	ENST00000524630.1	+	16	3111	c.2598C>G	c.(2596-2598)ctC>ctG	p.L866L	CTNND1_ENST00000526938.1_Silent_p.L872L|CTNND1_ENST00000529873.1_Silent_p.L812L|CTNND1_ENST00000532844.1_Silent_p.L818L|CTNND1_ENST00000528232.1_Silent_p.L771L|CTNND1_ENST00000532649.1_Silent_p.L812L|CTNND1_ENST00000526357.1_Silent_p.L812L|CTNND1_ENST00000531014.1_Silent_p.L543L|CTNND1_ENST00000527467.1_Silent_p.L549L|CTNND1_ENST00000428599.2_Silent_p.L866L|CTNND1_ENST00000426142.2_Silent_p.L765L|CTNND1_ENST00000529919.1_Silent_p.L872L|CTNND1_ENST00000529526.1_Silent_p.L812L|CTNND1_ENST00000529986.1_Silent_p.L765L|CTNND1_ENST00000533667.1_Silent_p.L543L|CTNND1_ENST00000361391.6_Silent_p.L866L|CTNND1_ENST00000415361.2_Silent_p.L771L|CTNND1_ENST00000532463.1_Silent_p.L765L|CTNND1_ENST00000530094.1_Silent_p.L765L|CTNND1_ENST00000530748.1_Silent_p.L818L|CTNND1_ENST00000361332.4_Silent_p.L866L|CTNND1_ENST00000361796.4_Silent_p.L866L|CTNND1_ENST00000360682.6_Silent_p.L872L|CTNND1_ENST00000532787.1_Silent_p.L765L|CTNND1_ENST00000358694.6_Silent_p.L866L|CTNND1_ENST00000399039.4_Silent_p.L872L|CTNND1_ENST00000526772.1_Silent_p.L543L|CTNND1_ENST00000399050.4_Silent_p.L872L|CTNND1_ENST00000525902.1_Silent_p.L549L|CTNND1_ENST00000528621.1_Silent_p.L812L|CTNND1_ENST00000534579.1_Silent_p.L812L|CTNND1_ENST00000532245.1_Silent_p.L765L			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	872					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTCTCCCTCTCATTGACCGGA	0.438													48	132					0	0	0	0	G	57578936	C	G	57578936	2	3	47	1	0	0	0	0	0	0	0	1	4051	813	29	2		2	CTNND1	11	57578936	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	624192	57578936	77427580	317	9195											
OR10W1	81341	broad.mit.edu	37	chr11	58034850	58034850	+	Frame_Shift_Del	DEL	G	G	-																															gtgctcaatgccctgagcctGgcagaatggcagagagaaga																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:58034850delG	ENST00000395079.2	-	1	882	c.481delC	c.(481-483)agfs	p.Q161fs		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CCCTGAGCCTGGCAGAATGGC	0.502													9	18	---	---	---	---					-	58034850	G	-	58034850	7	5	47	1	0	1	0	1	0	0	0	0	10992	1357	47	0	440	0	OR10W1	11	58034850	Frame_Shift_Del	DEL	G	TCGA-BB-7871-01A-11D-2229-08	455914	58034850	76971666	318	9196											
LPXN	9404	broad.mit.edu	37	chr11	58295529	58295529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacagaccccacaaacaaagCactctgggtgccagacagtg	14	5	9	13	0	1	2	0	0	1	2	1	2	1	2	3	1	4	1	3	1	3	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:58295529C>A	ENST00000528954.1	-	8	1012	c.893G>T	c.(892-894)tGc>tTc	p.C298F	LPXN_ENST00000528489.1_Missense_Mutation_p.C273F|LPXN_ENST00000395074.2_Missense_Mutation_p.C293F	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	293	LIM zinc-binding 3.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ACAAACAAAGCACTCTGGGTG	0.483													22	63					5.45024e-15	7.03474e-15	1	0	A	58295529	C	A	58295529	3	1	47	1	0	0	0	0	1	0	0	0	8993	710	25	4	290	4	LPXN	11	58295529	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	260679	58295529	76710987	319	9197											
MS4A14	84689	broad.mit.edu	37	chr11	60183000	60183000	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaatttgtgcttcaagaaGagttttccagtgatgattca	12	15	8	6	0	2	4	2	2	0	2	3	4	3	4	1	0	2	2	1	0	4	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:60183000G>T	ENST00000300187.6	+	5	836	c.559G>T	c.(559-561)Gag>Tag	p.E187*	MS4A14_ENST00000531783.1_Nonsense_Mutation_p.E220*|MS4A14_ENST00000531787.1_Nonsense_Mutation_p.E75*|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Nonsense_Mutation_p.E170*	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	187						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GCTTCAAGAAGAGTTTTCCAG	0.378													22	50					1.22574e-08	1.42095e-08	1	0	T	60183000	G	T	60183000	4	4	47	1	0	0	0	0	0	1	0	0	9928	943	33	2	577	2	MS4A14	11	60183000	Nonsense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1887471	60183000	74823516	320	9198											
RAB3IL1	5866	broad.mit.edu	37	chr11	61672059	61672059	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccaccttcactgtgggCagcgtctgcgaagccaccgg	6	7	13	15	4	2	0	1	0	1	0	3	1	2	0	4	3	3	1	4	3	1	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:61672059C>A	ENST00000394836.2	-	7	1015	c.858G>T	c.(856-858)ctG>ctT	p.L286L	RAB3IL1_ENST00000301773.5_Silent_p.L260L	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	286							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						TCACTGTGGGCAGCGTCTGCG	0.637													4	16					1	1	1	0	A	61672059	C	A	61672059	2	1	47	1	0	0	0	0	0	0	0	1	13019	697	25	4		4	RAB3IL1	11	61672059	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1489059	61672059	73334457	321	9199											
KCNK4	50801	broad.mit.edu	37	chr11	64065606	64065606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccaggcaggactcccCggcctatcagccgctggtgt	6	6	13	16	2	1	0	1	0	0	0	2	2	2	2	6	5	1	2	6	5	1	1	rs146535799		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:64065606C>G	ENST00000539216.1	+	5	1046	c.686C>G	c.(685-687)cCg>cGg	p.P229R	KCNK4_ENST00000422670.2_Missense_Mutation_p.P229R|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000394525.2_Missense_Mutation_p.P229R|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Silent_p.P113P			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	229						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CAGGACTCCCCGGCCTATCAG	0.627													3	22					0	0	0	0	G	64065606	C	G	64065606	3	3	47	1	0	0	0	0	1	0	0	0	8121	652	23	3	704	3	KCNK4	11	64065606	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	2393547	64065606	70940910	322	9200											
RPS6KA4	8986	broad.mit.edu	37	chr11	64137046	64137046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtgtcggccgtgagcttCatgcacgaggaggcgggcgt	5	8	17	11	6	1	1	1	1	0	0	3	3	1	2	1	4	2	2	1	4	0	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:64137046C>A	ENST00000528057.1	+	13	1624	c.1536C>A	c.(1534-1536)ttC>ttA	p.F512L	RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.F519L	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	519	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCGTGAGCTTCATGCACGAGG	0.721													11	12					6.40141e-05	6.78051e-05	1	0	A	64137046	C	A	64137046	3	1	47	1	0	0	0	0	1	0	0	0	13738	825	29	2	1607	2	RPS6KA4	11	64137046	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	71440	64137046	70869470	323	9201											
ARL2	402	broad.mit.edu	37	chr11	64786169	64786169	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgccagcgcatgcaggaCtgccagcgggagctccagag	9	3	15	14	3	0	1	0	0	0	1	1	4	1	3	4	2	5	3	4	2	0	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:64786169C>G	ENST00000246747.4	+	3	398	c.303C>G	c.(301-303)gaC>gaG	p.D101E	ARL2_ENST00000533729.1_Missense_Mutation_p.D101E|ARL2_ENST00000529384.1_Missense_Mutation_p.D101E|SNX15_ENST00000301886.3_3'UTR	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	101					cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GCATGCAGGACTGCCAGCGGG	0.617													10	34					0	0	0	0	G	64786169	C	G	64786169	3	3	47	1	0	0	0	0	1	0	0	0	937	564	20	4	313	4	ARL2	11	64786169	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	649123	64786169	70220347	324	9202											
ACTN3	89	broad.mit.edu	37	chr11	66322763	66322763	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacacccttctaggatgacCccatcggaaacctgaacact	12	9	6	14	1	1	2	0	2	1	0	2	4	1	4	4	2	3	0	4	2	4	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:66322763C>T	ENST00000513398.1	+	0	740				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CTAGGATGACCCCATCGGAAA	0.572													27	99					0	0	0	0	T	66322763	C	T	66322763	1	4	47	0	1	0	0	0	0	0	0	0	206	623	22	4		4	ACTN3	11	66322763	RNA	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1536594	66322763	68683753	325	9203											
SHANK2	22941	broad.mit.edu	37	chr11	70348920	70348920	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcttcctggcggtgtcGtcggggtccagattcctggt	2	14	13	12	3	1	1	0	0	1	1	6	1	4	1	4	5	0	0	4	5	0	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:70348920G>A	ENST00000338508.4	-	24	2180	c.2181C>T	c.(2179-2181)gaC>gaT	p.D727D	SHANK2_ENST00000409530.1_Silent_p.D137D|SHANK2_ENST00000357171.3_Silent_p.D138D|SHANK2_ENST00000409161.1_Silent_p.D137D|SHANK2_ENST00000449833.2_Silent_p.D138D|SHANK2_ENST00000423696.2_Silent_p.D347D|SHANK2_ENST00000449116.2_Silent_p.D138D			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	347					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.D138E(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGCGGTGTCGTCGGGGTCCA	0.657													10	312					0	0	0	0	A	70348920	G	A	70348920	2	1	47	1	0	0	0	0	0	0	0	1	14353	1136	40	1		1	SHANK2	11	70348920	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	4026157	70348920	64657596	326	9204											
PAAF1	80227	broad.mit.edu	37	chr11	73625542	73625542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttgggactacagagcaGgcagctggcaagtggttcct	8	9	15	9	0	0	1	0	0	0	1	1	2	1	2	1	4	4	6	1	4	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:73625542G>T	ENST00000544909.1	+	6	1072	c.815G>T	c.(814-816)aGg>aTg	p.R272M	PAAF1_ENST00000535604.1_Missense_Mutation_p.R156M|PAAF1_ENST00000536003.1_Missense_Mutation_p.R254M|PAAF1_ENST00000376384.5_Missense_Mutation_p.R254M|PAAF1_ENST00000310571.3_Missense_Mutation_p.R271M|PAAF1_ENST00000544552.1_Missense_Mutation_p.R254M|PAAF1_ENST00000541951.1_Missense_Mutation_p.R156M			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	271					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					CTACAGAGCAGGCAGCTGGCA	0.478													17	50					4.75885e-15	6.15504e-15	1	0	T	73625542	G	T	73625542	3	4	47	1	0	0	0	0	1	0	0	0	11433	1000	35	4	842	4	PAAF1	11	73625542	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	3276622	73625542	61380974	327	9205											
LRRC32	2615	broad.mit.edu	37	chr11	76372274	76372274	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggtcacgcgtggcaggggGcccaggccaccagcactcag	8	3	16	14	2	2	0	2	0	0	0	2	1	2	0	3	5	1	2	3	5	0	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:76372274G>A	ENST00000407242.2	-	3	605	c.363C>T	c.(361-363)ggC>ggT	p.G121G	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.G121G|LRRC32_ENST00000260061.5_Silent_p.G121G	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	121						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GTGGCAGGGGGCCCAGGCCAC	0.692													44	48					0	0	0	0	A	76372274	G	A	76372274	2	1	47	1	0	0	0	0	0	0	0	1	9051	1190	42	4		4	LRRC32	11	76372274	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2746732	76372274	58634242	328	9206											
MTMR2	8898	broad.mit.edu	37	chr11	95582947	95582947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttttcatcttctttgcttCgctttccactcactccaacc	6	18	2	15	1	4	0	2	0	2	0	7	0	6	0	3	0	2	2	3	0	1	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:95582947C>T	ENST00000393223.3	-	11	1330	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	MTMR2_ENST00000346299.5_Missense_Mutation_p.R295Q|MTMR2_ENST00000352297.7_Missense_Mutation_p.R223Q|MTMR2_ENST00000409459.1_Missense_Mutation_p.R223Q	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	295	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCTTTGCTTCGCTTTCCACT	0.413													36	57					0	0	0	0	T	95582947	C	T	95582947	3	4	47	1	0	0	0	0	1	0	0	0	10014	884	31	1	1075	1	MTMR2	11	95582947	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	19210673	95582947	39423569	329	9207											
MTMR2	8898	broad.mit.edu	37	chr11	95583015	95583015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcttgactttcaggatgaatCcatgataaaaccttaatgag	14	12	8	7	0	1	4	1	4	0	0	2	5	2	5	2	1	1	1	2	1	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:95583015C>G	ENST00000393223.3	-	11	1262	c.600G>C	c.(598-600)tgG>tgC	p.W200C	MTMR2_ENST00000346299.5_Missense_Mutation_p.W272C|MTMR2_ENST00000352297.7_Missense_Mutation_p.W200C|MTMR2_ENST00000409459.1_Missense_Mutation_p.W200C	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	272						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGGATGAATCCATGATAAAA	0.383													26	45					0	0	0	0	G	95583015	C	G	95583015	3	3	47	1	0	0	0	0	1	0	0	0	10014	856	30	2	1143	2	MTMR2	11	95583015	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	68	95583015	39423501	330	9208											
ARHGAP20	57569	broad.mit.edu	37	chr11	110450633	110450633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtccttctttgtataggctgGgcggctgcaagcctgccctg	4	12	13	12	1	1	0	0	0	1	0	2	0	2	0	3	3	3	4	3	3	3	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:110450633G>T	ENST00000260283.4	-	16	3321	c.3037C>A	c.(3037-3039)Cca>Aca	p.P1013T	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P987T|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P977T|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P987T|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.P556T|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P977T|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P990T	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1013					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GTATAGGCTGGGCGGCTGCAA	0.512													14	33					4.3838e-07	4.91803e-07	1	0	T	110450633	G	T	110450633	3	4	47	1	0	0	0	0	1	0	0	0	872	1232	43	4	542	4	ARHGAP20	11	110450633	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	14867618	110450633	24555883	331	9209											
KCNJ1	3758	broad.mit.edu	37	chr11	128709451	128709451	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcgtcaactacaaagttgaTattgatctggtccaaaataa	16	11	7	7	1	2	2	1	2	1	0	3	2	3	2	1	1	3	1	1	1	7	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:128709451T>C	ENST00000392665.2	-	2	832	c.688A>G	c.(688-690)Atc>Gtc	p.I230V	KCNJ1_ENST00000392666.1_Missense_Mutation_p.I230V|KCNJ1_ENST00000392664.2_Missense_Mutation_p.I249V|KCNJ1_ENST00000440599.2_Missense_Mutation_p.I230V|KCNJ1_ENST00000324036.3_Missense_Mutation_p.I230V	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	249					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ACAAAGTTGATATTGATCTGG	0.413													34	43					0	0	0	0	C	128709451	T	C	128709451	3	2	47	1	0	0	0	0	1	0	0	0	8096	1406	49	5	434	5	KCNJ1	11	128709451	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	18258818	128709451	6297065	332	9210											
ST14	6768	broad.mit.edu	37	chr11	130059706	130059706	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggaggaggccgagcgCgtcatggccgaggagcgcgt	6	5	20	10	6	1	0	1	0	0	0	1	5	1	3	2	6	2	0	2	6	0	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:130059706C>T	ENST00000278742.5	+	5	931	c.513C>T	c.(511-513)cgC>cgT	p.R171R		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	171					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGGCCGAGCGCGTCATGGCCG	0.677													31	71					0	0	0	0	T	130059706	C	T	130059706	2	4	47	1	0	0	0	0	0	0	0	1	15301	755	27	1		1	ST14	11	130059706	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1350255	130059706	4946810	333	9211											
GLB1L3	112937	broad.mit.edu	37	chr11	134163103	134163103	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcagcttcataaagtccaGgtaagacatttcagacaggc	15	9	8	9	0	3	2	3	0	0	2	4	2	4	2	1	2	1	2	1	2	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr11:134163103G>A	ENST00000389887.5	+	9	3372	c.876_splice	c.e9+1	p.Q292_splice	GLB1L3_ENST00000431683.2_Splice_Site_p.Q292_splice			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	292					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		ATAAAGTCCAGGTAAGACATT	0.458													8	17					0	0	0	0	A	134163103	G	A	134163103	5	1	47	1	0	0	0	0	0	0	1	0	6481	1014	35	4	910	4	GLB1L3	11	134163103	Splice_Site	SNP	G	TCGA-BB-7871-01A-11D-2229-08	4103397	134163103	843413	334	9212											
WNK1	65125	broad.mit.edu	37	chr12	1005420	1005420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtatctcttcagatgtgccaGagagtgcccacaaaactact	12	10	8	11	0	2	2	1	0	1	2	3	3	2	2	2	0	4	1	2	0	4	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:1005420G>C	ENST00000537687.1	+	24	7190	c.6547G>C	c.(6547-6549)Gag>Cag	p.E2183Q	WNK1_ENST00000315939.6_Missense_Mutation_p.E1923Q|WNK1_ENST00000530271.2_Missense_Mutation_p.E2421Q|WNK1_ENST00000535572.1_Missense_Mutation_p.E1675Q|WNK1_ENST00000340908.4_Missense_Mutation_p.E1516Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1923					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGATGTGCCAGAGAGTGCCCA	0.502													23	45					0	0	0	0	C	1005420	G	C	1005420	3	2	47	1	0	0	0	0	1	0	0	0	17473	943	33	2	7363	2	WNK1	12	1005420	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08		1005420	132846475	335	9213											
CACNA1C	775	broad.mit.edu	37	chr12	2614034	2614034	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgccgtaggaagggactgGccctggatctattttgttac	8	12	13	8	1	1	0	0	0	1	0	1	4	1	3	2	4	2	2	2	4	4	5	rs1051347		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:2614034G>A	ENST00000399655.1	+	8	1405	c.1140G>A	c.(1138-1140)tgG>tgA	p.W380*	CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000406454.3_Intron	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	380					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAAGGGACTGGCCCTGGATCT	0.512													10	14					0	0	0	0	A	2614034	G	A	2614034	4	1	47	1	0	0	0	0	0	1	0	0	2565	1212	42	4	1278	4	CACNA1C	12	2614034	Nonsense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1608614	2614034	131237861	336	9214											
C12orf4	57102	broad.mit.edu	37	chr12	4634429	4634429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagttaatacctaagggagCtgttgttggggttttttagg	9	16	13	3	0	0	0	0	0	0	0	0	1	0	1	1	4	2	5	1	4	5	9			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:4634429C>T	ENST00000261250.3	-	6	806	c.719G>A	c.(718-720)aGc>aAc	p.S240N	C12orf4_ENST00000545746.1_Missense_Mutation_p.S240N	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	240										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CCTAAGGGAGCTGTTGTTGGG	0.313													14	50					0	0	0	0	T	4634429	C	T	4634429	3	4	47	1	0	0	0	0	1	0	0	0	1697	797	28	4	975	4	C12orf4	12	4634429	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	2020395	4634429	129217466	337	9215											
PLEKHG6	55200	broad.mit.edu	37	chr12	6422904	6422904	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagagcccgagaagaggcAcgggggccatgtgggggctg	8	4	19	10	2	0	3	0	0	0	3	1	4	1	3	3	5	1	2	3	5	1	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:6422904A>C	ENST00000449001.2	+	2	646	c.152A>C	c.(151-153)cAc>cCc	p.H51P	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.H83P|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.H83P|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.H83P	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	83					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GAGAAGAGGCACGGGGGCCAT	0.647													27	78					0	0	0	0	C	6422904	A	C	6422904	3	2	47	1	0	0	0	0	1	0	0	0	12146	159	6	5	300	5	PLEKHG6	12	6422904	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	1788475	6422904	127428991	338	9216											
PIK3C2G	5288	broad.mit.edu	37	chr12	18499618	18499618	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaactatccacatccatctaCcagctaatcaatgtctactg	13	11	4	13	0	3	0	1	0	2	0	5	1	5	0	3	0	4	1	3	0	6	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:18499618C>A	ENST00000433979.1	+	11	1589	c.1473C>A	c.(1471-1473)taC>taA	p.Y491*	PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.Y491*|PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.Y491*|PIK3C2G_ENST00000535651.1_Nonsense_Mutation_p.Y491*	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	491					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CATCCATCTACCAGCTAATCA	0.418													22	77					3.5997e-14	4.58943e-14	1	0	A	18499618	C	A	18499618	4	1	47	1	0	0	0	0	0	1	0	0	11983	518	18	4	1511	4	PIK3C2G	12	18499618	Nonsense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	12076714	18499618	115352277	339	9217											
ITPR2	3709	broad.mit.edu	37	chr12	26647123	26647123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccttcaagcaaggcaatgCcgaggaaaatgccttctgaa	13	8	9	11	1	2	1	1	1	1	0	3	3	3	2	3	2	3	2	3	2	6	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:26647123C>A	ENST00000381340.3	-	39	5749	c.5333G>T	c.(5332-5334)gGc>gTc	p.G1778V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1778					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAAGGCAATGCCGAGGAAAAT	0.373													11	26					2.61681e-11	3.22466e-11	1	0	A	26647123	C	A	26647123	3	1	47	1	0	0	0	0	1	0	0	0	7974	739	26	4	2848	4	ITPR2	12	26647123	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	8147505	26647123	107204772	340	9218											
KIF21A	55605	broad.mit.edu	37	chr12	39695465	39695465	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacagacccaatccttaTgtgcatttggaacttgctaa	11	11	9	10	0	0	1	0	0	0	1	1	2	1	2	2	2	3	3	2	2	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:39695465T>A	ENST00000395670.3	-	36	5170	c.4751A>T	c.(4750-4752)cAt>cTt	p.H1584L	KIF21A_ENST00000541463.2_Missense_Mutation_p.H1530L|KIF21A_ENST00000361418.5_Missense_Mutation_p.H1583L|KIF21A_ENST00000361961.3_Missense_Mutation_p.H1570L|KIF21A_ENST00000544797.2_Missense_Mutation_p.H1546L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1583					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.H1570L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCAATCCTTATGTGCATTTGG	0.418													36	93					0	0	0	0	A	39695465	T	A	39695465	3	1	47	1	0	0	0	0	1	0	0	0	8339	1464	51	5	284	5	KIF21A	12	39695465	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	13048342	39695465	94156430	341	9219											
ADAMTS20	80070	broad.mit.edu	37	chr12	43896195	43896195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagggtaaactggtttcCtttatttgactttctaggga	10	16	10	5	0	1	2	0	2	1	0	2	3	2	3	1	3	1	2	1	3	5	7			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:43896195C>A	ENST00000389420.3	-	4	626	c.627G>T	c.(625-627)aaG>aaT	p.K209N	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.K209N	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	209						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AACTGGTTTCCTTTATTTGAC	0.308													48	119					3.48956e-15	4.5227e-15	1	0	A	43896195	C	A	43896195	3	1	47	1	0	0	0	0	1	0	0	0	266	680	24	4	5248	4	ADAMTS20	12	43896195	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	4200730	43896195	89955700	342	9220											
OR6C1	390321	broad.mit.edu	37	chr12	55714668	55714668	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatttcctttaataattgCatagttcagttatttttctt	10	21	3	7	0	2	0	1	0	1	0	3	0	3	0	2	0	1	3	2	0	4	11			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:55714668C>A	ENST00000379668.2	+	1	323	c.285C>A	c.(283-285)tgC>tgA	p.C95*		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTAATAATTGCATAGTTCAGT	0.393													12	43					0.010729	0.0108679	1	0	A	55714668	C	A	55714668	4	1	47	1	0	0	0	0	0	1	0	0	11261	718	25	4	287	4	OR6C1	12	55714668	Nonsense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	11818473	55714668	78137227	343	9221											
SRGAP1	57522	broad.mit.edu	37	chr12	64521798	64521798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggggcctgctgcagaacCgtggcctcaacaatgacagt	9	6	12	14	2	1	2	1	1	0	1	1	2	1	2	4	3	4	2	4	3	3	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:64521798C>A	ENST00000355086.3	+	21	3222	c.2698C>A	c.(2698-2700)Cgt>Agt	p.R900S	SRGAP1_ENST00000543397.1_Missense_Mutation_p.R837S|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R877S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	900					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCTGCAGAACCGTGGCCTCAA	0.632													29	52					1.12875e-08	1.31094e-08	1	0	A	64521798	C	A	64521798	3	1	47	1	0	0	0	0	1	0	0	0	15235	652	23	3	2780	3	SRGAP1	12	64521798	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	8807130	64521798	69330097	344	9222											
TRHDE	29953	broad.mit.edu	37	chr12	72956773	72956773	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attacccaacagcattttatCtatgatatcagtgctaaaac	15	13	4	9	0	2	1	1	1	1	0	2	1	2	1	1	0	5	2	1	0	7	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:72956773C>G	ENST00000261180.4	+	9	1956	c.1860C>G	c.(1858-1860)atC>atG	p.I620M	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	620					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGCATTTTATCTATGATATCA	0.318													14	55					0	0	0	0	G	72956773	C	G	72956773	3	3	47	1	0	0	0	0	1	0	0	0	16574	903	32	2	1894	2	TRHDE	12	72956773	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	8434975	72956773	60895122	345	9223											
LIN7A	8825	broad.mit.edu	37	chr12	81205380	81205380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttcttccagaacttttgggGtgtatcgcaccaccagcttg	7	14	9	11	1	1	1	0	0	1	1	3	1	2	1	3	2	2	3	3	2	2	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:81205380G>A	ENST00000552864.1	-	5	768	c.566C>T	c.(565-567)aCc>aTc	p.T189I		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	189	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						AACTTTTGGGGTGTATCGCAC	0.498													13	36					0	0	0	0	A	81205380	G	A	81205380	3	1	47	1	0	0	0	0	1	0	0	0	8865	1261	44	4	139	4	LIN7A	12	81205380	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	8248607	81205380	52646515	346	9224											
PPFIA2	8499	broad.mit.edu	37	chr12	81660798	81660798	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcaagaatctgccttGcctgttgacgtcaaattaca	10	14	6	11	1	4	2	2	1	2	1	4	2	4	2	2	0	3	1	2	0	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:81660798G>C	ENST00000550584.2	-	29	3783	c.3486_splice	c.e29-1	p.A1163_splice	PPFIA2_ENST00000407050.4_Splice_Site_p.A1062_splice|PPFIA2_ENST00000541017.1_Splice_Site_p.A349_splice|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Splice_Site_p.A1148_splice|PPFIA2_ENST00000548586.1_Splice_Site_p.A1157_splice|PPFIA2_ENST00000549396.1_Splice_Site_p.A1163_splice|PPFIA2_ENST00000550359.2_Splice_Site_p.A1010_splice|PPFIA2_ENST00000541570.2_Splice_Site_p.A699_splice|PPFIA2_ENST00000552948.1_Splice_Site_p.A1142_splice|PPFIA2_ENST00000443686.3_Splice_Site_p.A1058_splice|PPFIA2_ENST00000333447.7_Splice_Site_p.A1151_splice	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1062										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AATCTGCCTTGCCTGTTGACG	0.353													7	17					0	0	0	0	C	81660798	G	C	81660798	5	2	47	1	0	0	0	0	0	0	1	0	12381	1334	46	4		4	PPFIA2	12	81660798	Splice_Site	SNP	G	TCGA-BB-7871-01A-11D-2229-08	455418	81660798	52191097	347	9225											
CCDC41	51134	broad.mit.edu	37	chr12	94725487	94725487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacttgcctttttctgggCaattgcagctcgctgcagtt	6	14	9	12	1	1	0	0	0	1	0	2	0	1	0	2	1	4	6	2	1	1	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:94725487C>T	ENST00000397809.5	-	14	2245	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	CCDC41_ENST00000397807.2_Missense_Mutation_p.A533T|CCDC41_ENST00000339839.5_Missense_Mutation_p.A566T	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	558										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTTTTCTGGGCAATTGCAGCT	0.478													37	120					0	0	0	0	T	94725487	C	T	94725487	3	4	47	1	0	0	0	0	1	0	0	0	2839	710	25	4	425	4	CCDC41	12	94725487	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	13064689	94725487	39126408	348	9226											
VEZT	55591	broad.mit.edu	37	chr12	95660293	95660293	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactacaagtgaccctaaaaAaatacagcgttcatttggaa	18	9	6	8	1	1	1	1	1	0	0	1	2	1	2	1	1	4	1	1	1	9	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:95660293A>G	ENST00000436874.1	+	5	700	c.595A>G	c.(595-597)Aaa>Gaa	p.K199E	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.K151E	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	199						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GACCCTAAAAAAATACAGCGT	0.418													40	120					0	0	0	0	G	95660293	A	G	95660293	3	3	47	1	0	0	0	0	1	0	0	0	17252	15	1	5	613	5	VEZT	12	95660293	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	934806	95660293	38191602	349	9227											
AMDHD1	144193	broad.mit.edu	37	chr12	96360158	96360158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctggcctgtgtaaacatGagaatgtccatgcctgaggc	10	10	11	10	0	1	2	0	2	1	1	2	3	2	2	3	2	2	1	3	2	3	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:96360158G>A	ENST00000266736.2	+	8	1171	c.1065G>A	c.(1063-1065)atG>atA	p.M355I		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	355					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GTGTAAACATGAGAATGTCCA	0.478													25	62					0	0	0	0	A	96360158	G	A	96360158	3	1	47	1	0	0	0	0	1	0	0	0	567	1290	45	2	1095	2	AMDHD1	12	96360158	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	699865	96360158	37491737	350	9228											
APPL2	55198	broad.mit.edu	37	chr12	105569861	105569861	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattaatagcataacatatCtgcaaaagacaagaaaagta	23	8	5	5	0	1	2	0	0	1	2	1	2	1	2	0	0	3	3	0	0	11	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:105569861C>T	ENST00000258530.3	-	20	2038		c.e20-1		APPL2_ENST00000551662.1_Splice_Site|APPL2_ENST00000539978.2_Splice_Site|APPL2_ENST00000546731.1_Silent_p.Q47Q	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2						cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATAACATATCTGCAAAAGAC	0.353													7	18					0	0	0	0	T	105569861	C	T	105569861	5	4	47	1	0	0	0	0	0	0	1	0	820	927	32	2	190	2	APPL2	12	105569861	Splice_Site	SNP	C	TCGA-BB-7871-01A-11D-2229-08	9209703	105569861	28282034	351	9229											
ACACB	32	broad.mit.edu	37	chr12	109609642	109609642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggatcattacgtccccGtcccaggagggcccaataac	9	7	11	14	3	1	0	1	0	0	0	3	2	3	2	4	4	2	0	4	4	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:109609642G>T	ENST00000338432.7	+	5	1077	c.958G>T	c.(958-960)Gtc>Ttc	p.V320F	ACACB_ENST00000377848.3_Missense_Mutation_p.V320F|ACACB_ENST00000377854.5_Missense_Mutation_p.V320F			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	320	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTACGTCCCCGTCCCAGGAGG	0.502													20	24					8.04996e-18	1.07447e-17	1	0	T	109609642	G	T	109609642	3	4	47	1	0	0	0	0	1	0	0	0	107	1145	40	3	972	3	ACACB	12	109609642	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	4039781	109609642	24242253	352	9230											
GLTP	51228	broad.mit.edu	37	chr12	110290415	110290415	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacatctcgtagatgacaTcgatggtcgccgtgtagttg	8	13	12	8	4	1	2	0	1	1	1	4	3	1	2	1	1	1	4	1	1	3	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:110290415T>C	ENST00000318348.4	-	5	688	c.575A>G	c.(574-576)gAt>gGt	p.D192G	GLTP_ENST00000544393.1_Missense_Mutation_p.D173G	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	192						cytoplasm	glycolipid binding|glycolipid transporter activity			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		GTAGATGACATCGATGGTCGC	0.552											OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	75	229					0	0	0	0	C	110290415	T	C	110290415	3	2	47	1	0	0	0	0	1	0	0	0	6522	1435	50	5	58	5	GLTP	12	110290415	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	680773	110290415	23561480	353	9231											
CLIP1	6249	broad.mit.edu	37	chr12	122794336	122794336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacttgtgacttcgtccctGcttctccccagctcctcagc	4	13	7	17	1	2	2	1	2	1	0	6	2	4	2	4	0	3	2	4	0	0	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:122794336G>T	ENST00000358808.2	-	19	3688	c.3534C>A	c.(3532-3534)agC>agA	p.S1178R	CLIP1_ENST00000545889.1_Missense_Mutation_p.S764R|CLIP1_ENST00000540338.1_Missense_Mutation_p.S1189R|CLIP1_ENST00000537178.1_Missense_Mutation_p.S1143R|CLIP1_ENST00000361654.4_Missense_Mutation_p.S1067R|CLIP1_ENST00000302528.7_Missense_Mutation_p.S1178R	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1189					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTTCGTCCCTGCTTCTCCCCA	0.552													15	57					1.5739e-10	1.90942e-10	1	0	T	122794336	G	T	122794336	3	4	47	1	0	0	0	0	1	0	0	0	3562	1310	46	4	777	4	CLIP1	12	122794336	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	12503921	122794336	11057559	354	9232											
EP400	57634	broad.mit.edu	37	chr12	132505773	132505773	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctccaccccaggccagcccCcgccccagccccaggccccc	5	1	7	28	1	0	0	0	0	0	0	1	0	1	0	13	2	2	0	13	2	0	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:132505773C>A	ENST00000333577.4	+	24	4814	c.4705C>A	c.(4705-4707)Ccg>Acg	p.P1569T	EP400_ENST00000330386.6_Intron|EP400_ENST00000332482.4_Missense_Mutation_p.P1496T|EP400_ENST00000389561.2_Missense_Mutation_p.P1533T|EP400_ENST00000389562.2_Missense_Mutation_p.P1532T			Q96L91	EP400_HUMAN	E1A binding protein p400	1569					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		aggccagcccccgccccagcc	0.751													15	15					0.00244969	0.00250165	1	0	A	132505773	C	A	132505773	3	1	47	1	0	0	0	0	1	0	0	0	5187	623	22	4	4680	4	EP400	12	132505773	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	9711437	132505773	1346122	355	9233											
P2RX2	22953	broad.mit.edu	37	chr12	133197632	133197632	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggactgtgacctggacCtgcctgcatcggagtgcaac	8	8	13	12	1	0	1	0	1	0	0	1	4	0	4	3	3	4	2	3	3	1	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr12:133197632C>A	ENST00000389110.3	+	8	857	c.820C>A	c.(820-822)Ctg>Atg	p.L274M	P2RX2_ENST00000351222.4_Missense_Mutation_p.L182M|P2RX2_ENST00000343948.4_Missense_Mutation_p.L274M|P2RX2_ENST00000350048.5_Missense_Mutation_p.L250M|P2RX2_ENST00000449132.2_Missense_Mutation_p.L240M|P2RX2_ENST00000348800.5_Missense_Mutation_p.L274M|P2RX2_ENST00000352418.4_Missense_Mutation_p.L202M	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	274					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TGACCTGGACCTGCCTGCATC	0.602													26	65					6.32553e-13	8.01575e-13	1	0	A	133197632	C	A	133197632	3	1	47	1	0	0	0	0	1	0	0	0	11411	680	24	4	850	4	P2RX2	12	133197632	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	691859	133197632	654263	356	9234											
DCLK1	9201	broad.mit.edu	37	chr13	36410270	36410270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggaatctggaagccttcctCcgacacttctgaaagaatca	12	10	8	11	1	3	2	1	1	2	1	5	5	5	4	3	2	1	0	3	2	4	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr13:36410270C>T	ENST00000255448.4	-	8	1340	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	DCLK1_ENST00000379893.1_Missense_Mutation_p.E70K|DCLK1_ENST00000360631.3_Missense_Mutation_p.E377K	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	377					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AAGCCTTCCTCCGACACTTCT	0.358													23	76					0	0	0	0	T	36410270	C	T	36410270	3	4	47	1	0	0	0	0	1	0	0	0	4323	864	30	2	1104	2	DCLK1	13	36410270	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08		36410270	78759608	357	9235											
POSTN	10631	broad.mit.edu	37	chr13	38151925	38151925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatttctttgaaggtgctaCcacgaacaaactgaaaataa	16	10	8	7	1	1	2	0	2	1	0	1	4	1	3	1	2	4	1	1	2	7	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr13:38151925C>A	ENST00000379747.4	-	16	2090	c.1973G>T	c.(1972-1974)gGt>gTt	p.G658V	POSTN_ENST00000379743.4_Missense_Mutation_p.G658V|POSTN_ENST00000379749.4_Missense_Mutation_p.G658V|POSTN_ENST00000541481.1_Missense_Mutation_p.G658V|POSTN_ENST00000541179.1_Missense_Mutation_p.G658V|POSTN_ENST00000379742.4_Missense_Mutation_p.G658V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	658					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GAAGGTGCTACCACGAACAAA	0.318													7	20					1.26484e-09	1.50245e-09	1	0	A	38151925	C	A	38151925	3	1	47	1	0	0	0	0	1	0	0	0	12331	507	18	4	569	4	POSTN	13	38151925	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1741655	38151925	77017953	358	9236											
TRPC4	7223	broad.mit.edu	37	chr13	38211293	38211293	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaatgctcaggtcacccCgtgaagctaatcctcgagat	10	8	11	12	3	2	2	2	1	0	1	4	4	3	3	3	2	2	2	3	2	3	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr13:38211293C>A	ENST00000379705.3	-	11	3538	c.2681G>T	c.(2680-2682)cGg>cTg	p.R894L	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.R721L|TRPC4_ENST00000355779.2_Missense_Mutation_p.R753L|TRPC4_ENST00000379681.3_Missense_Mutation_p.R899L|TRPC4_ENST00000338947.5_Missense_Mutation_p.R721L|TRPC4_ENST00000379673.2_Missense_Mutation_p.R745L|TRPC4_ENST00000447043.1_Missense_Mutation_p.R753L|TRPC4_ENST00000358477.2_Missense_Mutation_p.R810L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	894	Binds to ITPR1, ITPR2 and ITPR3.				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)		CAGGTCACCCCGTGAAGCTAA	0.468													24	34					9.95505e-16	1.30374e-15	1	0	A	38211293	C	A	38211293	3	1	47	1	0	0	0	0	1	0	0	0	16675	652	23	3	256	3	TRPC4	13	38211293	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	59368	38211293	76958585	359	9237											
EDNRB	1910	broad.mit.edu	37	chr13	78477736	78477736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccaaatggccagtcctctgCcagcagctgcattgagaaga	11	8	10	12	0	1	2	0	1	1	2	3	3	3	2	4	1	4	3	4	1	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr13:78477736C>T	ENST00000377211.4	-	3	912	c.760G>A	c.(760-762)Gca>Aca	p.A254T	EDNRB_ENST00000446573.1_Missense_Mutation_p.A164T|EDNRB_ENST00000334286.5_Missense_Mutation_p.A164T	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	164					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CAGTCCTCTGCCAGCAGCTGC	0.463													23	21					0	0	0	0	T	78477736	C	T	78477736	3	4	47	1	0	0	0	0	1	0	0	0	4956	739	26	4	983	4	EDNRB	13	78477736	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	40266443	78477736	36692142	360	9238											
MYO16	23026	broad.mit.edu	37	chr13	109792671	109792671	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaagaagattcctcctCgaaagcccaagcgcagcccc	12	5	8	16	2	0	3	0	1	0	2	3	4	2	3	6	0	3	1	6	0	4	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr13:109792671C>A	ENST00000356711.2	+	32	4171	c.4045C>A	c.(4045-4047)Cga>Aga	p.R1349R	MYO16_ENST00000357550.2_Silent_p.R1349R	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1349					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GATTCCTCCTCGAAAGCCCAA	0.701													19	29					8.00594e-06	8.79249e-06	1	0	A	109792671	C	A	109792671	2	1	47	1	0	0	0	0	0	0	0	1	10134	876	31	3		3	MYO16	13	109792671	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	31314935	109792671	5377207	361	9239											
POTEG	404785	broad.mit.edu	37	chr14	19563540	19563540	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttctagtcatcataatGtgtaagtgtttacattaaaa	13	17	6	5	0	3	0	2	0	1	0	3	0	3	0	0	0	1	3	0	0	6	7			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:19563540G>T	ENST00000409832.3	+	5	1106	c.1055_splice	c.e5+1	p.V352_splice	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	352										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TCATCATAATGTGTAAGTGTT	0.338													54	603					1.38909e-20	1.91115e-20	1	0	T	19563540	G	T	19563540	5	4	47	1	0	0	0	0	0	0	1	0	12338	1391	48	4	1072	4	POTEG	14	19563540	Splice_Site	SNP	G	TCGA-BB-7871-01A-11D-2229-08		19563540	87786000	362	9240											
OR4M1	441670	broad.mit.edu	37	chr14	20249034	20249034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgacatcacacaggttGtccggattgcctgtgccaac	8	11	10	12	1	2	1	1	1	1	0	3	2	3	2	3	2	3	1	3	2	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:20249034G>T	ENST00000315957.4	+	1	634	c.553G>T	c.(553-555)Gtc>Ttc	p.V185F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V185F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACACAGGTTGTCCGGATTGC	0.458													59	441					1.33661e-31	1.89732e-31	1	0	T	20249034	G	T	20249034	3	4	47	1	0	0	0	0	1	0	0	0	11146	1377	48	4	555	4	OR4M1	14	20249034	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	685494	20249034	87100506	363	9241											
OR4N2	390429	broad.mit.edu	37	chr14	20295854	20295854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggctccccggatgttgGtggacttcctctctgcgaag	4	13	13	11	2	1	0	0	0	1	0	4	3	3	2	3	4	1	2	3	4	1	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:20295854G>T	ENST00000568211.1	+	1	247	c.247G>T	c.(247-249)Gtg>Ttg	p.V83L	OR4N2_ENST00000315947.1_Missense_Mutation_p.V83L			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	83					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)		CCGGATGTTGGTGGACTTCCT	0.522													64	537					2.2129e-31	3.13411e-31	1	0	T	20295854	G	T	20295854	3	4	47	1	0	0	0	0	1	0	0	0	11148	1261	44	4	249	4	OR4N2	14	20295854	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	46820	20295854	87053686	364	9242											
MIA2	117153	broad.mit.edu	37	chr14	39721980	39721980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctaacatagagttacctacGagaattcacgaagaagtata	17	10	7	7	2	2	3	1	0	1	3	2	5	2	3	1	0	3	2	1	0	9	7			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:39721980G>A	ENST00000280082.3	+	5	1795	c.1596G>A	c.(1594-1596)acG>acA	p.T532T	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AGTTACCTACGAGAATTCACG	0.368													16	42					0	0	0	0	A	39721980	G	A	39721980	2	1	47	1	0	0	0	0	0	0	0	1	9633	1045	37	1		1	MIA2	14	39721980	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	19426126	39721980	67627560	365	9243											
LRFN5	145581	broad.mit.edu	37	chr14	42356278	42356278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgtcttcgcccttgaGgagctggatctgtcctataa	8	13	11	9	1	2	2	0	2	2	0	4	5	3	4	2	2	1	1	2	2	2	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:42356278G>T	ENST00000554171.1	+	5	2882	c.450G>T	c.(448-450)gaG>gaT	p.E150D	LRFN5_ENST00000298119.4_Missense_Mutation_p.E150D|LRFN5_ENST00000554120.1_Missense_Mutation_p.E150D			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	150						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCGCCCTTGAGGAGCTGGATC	0.393										HNSCC(30;0.082)			15	44					2.61681e-11	3.22466e-11	1	0	T	42356278	G	T	42356278	3	4	47	1	0	0	0	0	1	0	0	0	9005	991	35	4	452	4	LRFN5	14	42356278	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2634298	42356278	64993262	366	9244											
LRFN5	145581	broad.mit.edu	37	chr14	42356945	42356945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacacaaatagtggatcttCatataattaagctccctcac	15	11	4	11	0	3	0	2	0	1	0	4	1	4	1	1	1	2	1	1	1	6	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:42356945C>G	ENST00000554171.1	+	5	3549	c.1117C>G	c.(1117-1119)Cat>Gat	p.H373D	LRFN5_ENST00000298119.4_Missense_Mutation_p.H373D|LRFN5_ENST00000554120.1_Missense_Mutation_p.H373D			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	373	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGTGGATCTTCATATAATTAA	0.403										HNSCC(30;0.082)			18	55					0	0	0	0	G	42356945	C	G	42356945	3	3	47	1	0	0	0	0	1	0	0	0	9005	826	29	2	1119	2	LRFN5	14	42356945	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	667	42356945	64992595	367	9245											
POLE2	5427	broad.mit.edu	37	chr14	50136312	50136312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaataattcatgcctgtggGtcctctataaaaaagaaaga	17	11	7	6	0	2	2	1	0	1	2	3	2	3	2	2	1	1	0	2	1	8	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:50136312G>T	ENST00000539565.2	-	5	562	c.344C>A	c.(343-345)aCc>aAc	p.T115N	POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Missense_Mutation_p.T141N|POLE2_ENST00000216367.5_Missense_Mutation_p.T141N	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	141					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					ATGCCTGTGGGTCCTCTATAA	0.373													9	17					0.000274275	0.00028616	1	0	T	50136312	G	T	50136312	3	4	47	1	0	0	0	0	1	0	0	0	12269	1261	44	4	1217	4	POLE2	14	50136312	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	7779367	50136312	57213228	368	9246											
DDHD1	80821	broad.mit.edu	37	chr14	53529722	53529722	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatagctcatccatcgttCatcaggcaactcttcttcct	8	15	4	14	1	6	0	4	0	2	0	9	0	8	0	2	1	2	3	2	1	2	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:53529722C>G	ENST00000357758.3	-	7	1888	c.1705G>C	c.(1705-1707)Gaa>Caa	p.E569Q	DDHD1_ENST00000395606.1_Missense_Mutation_p.E576Q|DDHD1_ENST00000323669.5_Missense_Mutation_p.E569Q	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	569					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATCCATCGTTCATCAGGCAAC	0.368													10	101					0	0	0	0	G	53529722	C	G	53529722	3	3	47	1	0	0	0	0	1	0	0	0	4358	835	29	2	1025	2	DDHD1	14	53529722	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	3393410	53529722	53819818	369	9247											
GPR65	8477	broad.mit.edu	37	chr14	88477767	88477767	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggacgtgtacaggctaTgcaatacctttggtcaccat	10	12	9	10	1	2	0	2	0	0	0	2	1	2	1	2	3	3	3	2	3	4	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:88477767T>C	ENST00000267549.3	+	2	1134	c.576T>C	c.(574-576)taT>taC	p.Y192Y	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	192					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GTACAGGCTATGCAATACCTT	0.413													27	51					0	0	0	0	C	88477767	T	C	88477767	2	2	47	1	0	0	0	0	0	0	0	1	6755	1471	51	5		5	GPR65	14	88477767	Silent	SNP	T	TCGA-BB-7871-01A-11D-2229-08	34948045	88477767	18871773	370	9248											
BDKRB1	623	broad.mit.edu	37	chr14	96730747	96730747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggacaaggtgcgggggccGcaaggatagcaagaccacag	13	2	16	10	2	0	1	0	0	0	1	0	3	0	3	2	5	2	2	2	5	4	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:96730747G>T	ENST00000216629.6	+	3	1334	c.728G>T	c.(727-729)cGc>cTc	p.R243L	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Intron	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	243				CGGR -> VRGP (in Ref. 1, 2 and 3).	elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TGCGGGGGCCGCAAGGATAGC	0.587													19	41					6.49762e-13	8.21719e-13	1	0	T	96730747	G	T	96730747	3	4	47	1	0	0	0	0	1	0	0	0	1396	1087	38	3	730	3	BDKRB1	14	96730747	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	8252980	96730747	10618793	371	9249											
AHNAK2	113146	broad.mit.edu	37	chr14	105409977	105409977	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctcctggggcctcgacGtccacctccacgctgggcag	4	8	13	16	3	0	0	0	0	0	0	4	1	3	0	5	4	0	3	5	4	0	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr14:105409977G>A	ENST00000333244.5	-	7	11930	c.11811C>T	c.(11809-11811)gaC>gaT	p.D3937D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3937						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTCGACGTCCACCTCCA	0.597													5	330					0	0	0	0	A	105409977	G	A	105409977	2	1	47	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105409977	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	8679230	105409977	1939563	372	9250											
B2M	567	broad.mit.edu	37	chr15	45007752	45007752	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaatggagagagaattGaaaaagtggagcattcagac	18	7	13	3	0	1	6	1	2	0	4	1	9	1	7	0	2	1	1	0	2	5	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:45007752G>T	ENST00000558401.1	+	2	269	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	B2M_ENST00000544417.1_Nonsense_Mutation_p.E67*|B2M_ENST00000559916.1_Nonsense_Mutation_p.E67*|B2M_ENST00000559220.1_Intron	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	67	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.K61_L74del(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		AGAGAGAATTGAAAAAGTGGA	0.413													41	54					1.57019e-19	2.13683e-19	1	0	T	45007752	G	T	45007752	4	4	47	1	0	0	0	0	0	1	0	0	1248	1291	45	2	205	2	B2M	15	45007752	Nonsense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08		45007752	57523640	373	9251											
UNC13C	440279	broad.mit.edu	37	chr15	54305604	54305604	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgagggcagctctgaCggggagcgtactctacatgg	7	8	14	12	2	3	2	0	2	3	0	3	3	3	3	1	4	4	3	1	4	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:54305604C>T	ENST00000545554.1	+	1	504	c.504C>T	c.(502-504)gaC>gaT	p.D168D	UNC13C_ENST00000537900.1_Silent_p.D168D|UNC13C_ENST00000260323.11_Silent_p.D168D			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	168					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCAGCTCTGACGGGGAGCGTA	0.473													26	48					0	0	0	0	T	54305604	C	T	54305604	2	4	47	1	0	0	0	0	0	0	0	1	17082	535	19	1		1	UNC13C	15	54305604	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	9297852	54305604	48225788	374	9252											
TLN2	83660	broad.mit.edu	37	chr15	63092597	63092597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaatgccatcaaagatgtgGccaaggccctttctgatctc	10	11	8	12	0	4	2	2	1	2	1	5	2	4	2	3	2	1	0	3	2	3	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:63092597G>T	ENST00000561311.1	+	48	6495	c.6265G>T	c.(6265-6267)Gcc>Tcc	p.A2089S	TLN2_ENST00000306829.6_Missense_Mutation_p.A2089S			Q9Y4G6	TLN2_HUMAN	talin 2	2089					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAAAGATGTGGCCAAGGCCCT	0.537													49	116					2.64894e-19	3.58926e-19	1	0	T	63092597	G	T	63092597	3	4	47	1	0	0	0	0	1	0	0	0	16042	1203	42	4	6447	4	TLN2	15	63092597	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	8786993	63092597	39438795	375	9253											
SLC24A1	9187	broad.mit.edu	37	chr15	65917057	65917057	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaatggaaacaagccatgcGatcacccccaggacaacagt	16	4	8	13	1	1	0	1	0	0	0	1	3	1	2	3	2	4	0	3	2	4	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:65917057G>A	ENST00000261892.6	+	2	926	c.639G>A	c.(637-639)gcG>gcA	p.A213A	SLC24A1_ENST00000339868.6_Silent_p.A213A|SLC24A1_ENST00000546330.1_Silent_p.A213A|SLC24A1_ENST00000544319.2_Silent_p.A213A|SLC24A1_ENST00000537259.1_Silent_p.A213A|SLC24A1_ENST00000399033.4_Silent_p.A213A	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	213					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CAAGCCATGCGATCACCCCCA	0.458													10	20					0	0	0	0	A	65917057	G	A	65917057	2	1	47	1	0	0	0	0	0	0	0	1	14553	1045	37	1		1	SLC24A1	15	65917057	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2824460	65917057	36614335	376	9254											
ARNT2	9915	broad.mit.edu	37	chr15	80872831	80872831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacatgtcccaaatctccCggcagctaaaccagagtcag	14	6	8	13	1	2	2	1	0	1	2	4	2	3	2	3	1	3	2	3	1	4	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:80872831C>T	ENST00000533983.1	+	17	1999	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	ARNT2_ENST00000527771.1_Missense_Mutation_p.R554W|ARNT2_ENST00000303329.4_Missense_Mutation_p.R565W|RP11-379K22.3_ENST00000603875.1_RNA			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	565	Poly-Ser.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R565R(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCAAATCTCCCGGCAGCTAAA	0.542													25	81					0	0	0	0	T	80872831	C	T	80872831	3	4	47	1	0	0	0	0	1	0	0	0	970	643	23	1	1755	1	ARNT2	15	80872831	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	14955774	80872831	21658561	377	9255											
SH3GL3	6457	broad.mit.edu	37	chr15	84245351	84245351	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcatcacctgaaaaagcTggaaggccgccgcctggatt	11	8	11	11	2	1	1	1	1	0	0	1	3	1	3	4	3	2	2	4	3	4	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:84245351T>A	ENST00000324537.5	+	9	998	c.506T>A	c.(505-507)cTg>cAg	p.L169Q	SH3GL3_ENST00000535412.1_Missense_Mutation_p.L161Q|SH3GL3_ENST00000427482.2_Missense_Mutation_p.L161Q|SH3GL3_ENST00000434347.1_Missense_Mutation_p.L169Q			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	161	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						CTGAAAAAGCTGGAAGGCCGC	0.393													16	42					0	0	0	0	A	84245351	T	A	84245351	3	1	47	1	0	0	0	0	1	0	0	0	14340	1580	55	5	504	5	SH3GL3	15	84245351	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	3372520	84245351	18286041	378	9256											
AKAP13	11214	broad.mit.edu	37	chr15	86283466	86283466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcagcaggttgtccagaGcgttgttcatctctacgagc	7	12	12	10	2	2	1	1	0	1	1	4	2	3	1	1	2	4	5	1	2	1	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:86283466G>A	ENST00000394518.2	+	34	7666	c.7571G>A	c.(7570-7572)aGc>aAc	p.S2524N	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.S2528N|AKAP13_ENST00000394510.2_Missense_Mutation_p.S769N	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2524	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTTGTCCAGAGCGTTGTTCAT	0.473													16	34					0	0	0	0	A	86283466	G	A	86283466	3	1	47	1	0	0	0	0	1	0	0	0	449	971	34	4	7771	4	AKAP13	15	86283466	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2038115	86283466	16247926	379	9257											
IQGAP1	8826	broad.mit.edu	37	chr15	91021068	91021068	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatcaaaactgaccctgtGgatatttacaaatcttgggt	14	12	7	8	0	2	1	1	1	1	0	2	2	2	2	1	2	3	0	1	2	6	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr15:91021068G>T	ENST00000268182.5	+	26	3400	c.3276G>T	c.(3274-3276)gtG>gtT	p.V1092V	IQGAP1_ENST00000560738.1_Silent_p.V520V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1092	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTGACCCTGTGGATATTTACA	0.433													17	82					1.67942e-08	1.93969e-08	1	0	T	91021068	G	T	91021068	2	4	47	1	0	0	0	0	0	0	0	1	7867	1335	47	4		4	IQGAP1	15	91021068	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	4737602	91021068	11510324	380	9258											
HS3ST6	64711	broad.mit.edu	37	chr16	1961835	1961835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggaagtcctgcacgCggccgacctctccggccggg	5	4	15	17	5	1	0	0	0	1	0	3	2	2	1	6	5	1	1	6	5	1	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:1961835C>T	ENST00000454677.2	-	2	901	c.836G>A	c.(835-837)cGc>cAc	p.R279H	HS3ST6_ENST00000293937.3_Missense_Mutation_p.R262H|HS3ST6_ENST00000443547.1_Missense_Mutation_p.R231H			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	231								p.R231H(2)		endometrium(2)|lung(2)	4						GTCCTGCACGCGGCCGACCTC	0.667													35	110					0	0	0	0	T	1961835	C	T	1961835	3	4	47	1	0	0	0	0	1	0	0	0	7419	768	27	1	247	1	HS3ST6	16	1961835	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08		1961835	88392918	381	9259											
TBL3	10607	broad.mit.edu	37	chr16	2028594	2028594	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaccctccaggccgccGctttcttggacttcctgtgg	4	10	12	15	2	1	0	0	0	1	0	3	2	3	2	5	4	0	2	5	4	0	3	rs147301648	byFrequency	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:2028594G>C	ENST00000568546.1	+	22	2463	c.2335G>C	c.(2335-2337)Gct>Cct	p.A779P		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	779					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CCAGGCCGCCGCTTTCTTGGA	0.672													31	94					0	0	0	0	C	2028594	G	C	2028594	3	2	47	1	0	0	0	0	1	0	0	0	15737	1087	38	3	2421	3	TBL3	16	2028594	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	66759	2028594	88326159	382	9260											
AMDHD2	51005	broad.mit.edu	37	chr16	2579489	2579489	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagacttcgtggtgctCgacgactcccttcacgtcca	6	10	9	16	4	1	1	1	0	0	1	6	3	4	1	3	1	1	1	3	1	0	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:2579489C>A	ENST00000302956.4	+	10	1339	c.1245C>A	c.(1243-1245)ctC>ctA	p.L415L	CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000293971.6_Silent_p.L385L|AMDHD2_ENST00000413459.3_Silent_p.L415L			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	385					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TCGTGGTGCTCGACGACTCCC	0.657													27	89					2.79863e-10	3.38213e-10	1	0	A	2579489	C	A	2579489	2	1	47	1	0	0	0	0	0	0	0	1	568	871	31	3		3	AMDHD2	16	2579489	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	550895	2579489	87775264	383	9261											
SCNN1G	6340	broad.mit.edu	37	chr16	23200940	23200940	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcggtagcatcattcacaAggcttcaaatgtcatgcaca	12	9	9	11	2	4	0	4	0	0	0	4	0	4	0	0	3	2	4	0	3	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:23200940A>G	ENST00000300061.2	+	3	709	c.566A>G	c.(565-567)aAg>aGg	p.K189R		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	189					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATCATTCACAAGGCTTCAAAT	0.512													75	174					0	0	0	0	G	23200940	A	G	23200940	3	3	47	1	0	0	0	0	1	0	0	0	14017	72	3	5	572	5	SCNN1G	16	23200940	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	20621451	23200940	67153813	384	9262											
PRKCB	5579	broad.mit.edu	37	chr16	24192159	24192159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattctgagggacacatcaaGattgccgattttggcatgtg	10	12	12	7	1	2	2	1	1	1	1	2	5	2	3	1	2	1	1	1	2	1	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:24192159G>C	ENST00000303531.7	+	13	1595	c.1443G>C	c.(1441-1443)aaG>aaC	p.K481N	PRKCB_ENST00000321728.7_Missense_Mutation_p.K481N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	481	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GACACATCAAGATTGCCGATT	0.453													26	75					0	0	0	0	C	24192159	G	C	24192159	3	2	47	1	0	0	0	0	1	0	0	0	12588	933	33	2	1493	2	PRKCB	16	24192159	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	991219	24192159	66162594	385	9263											
HS3ST4	9951	broad.mit.edu	37	chr16	26146942	26146942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctcctagaaatgtgatGcccaagactttggatgggca	10	10	10	11	0	1	3	0	1	1	2	2	4	1	4	3	2	1	1	3	2	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:26146942G>T	ENST00000331351.5	+	2	1136	c.744G>T	c.(742-744)atG>atT	p.M248I	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	248					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAAATGTGATGCCCAAGACTT	0.423													8	25					3.09899e-07	3.50174e-07	1	0	T	26146942	G	T	26146942	3	4	47	1	0	0	0	0	1	0	0	0	7417	1319	46	4	750	4	HS3ST4	16	26146942	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1954783	26146942	64207811	386	9264											
HEATR3	55027	broad.mit.edu	37	chr16	50118095	50118095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagcagtgatgaaagtgacGcatttatggagaattccttc	12	12	10	7	1	0	4	0	3	0	1	2	5	1	4	1	1	1	2	1	1	4	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:50118095G>A	ENST00000299192.7	+	9	1374	c.1183G>A	c.(1183-1185)Gca>Aca	p.A395T	HEATR3_ENST00000564942.1_3'UTR|HEATR3_ENST00000285767.4_Missense_Mutation_p.A309T	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	395							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGAAAGTGACGCATTTATGGA	0.502													22	78					0	0	0	0	A	50118095	G	A	50118095	3	1	47	1	0	0	0	0	1	0	0	0	7079	1087	38	1	1217	1	HEATR3	16	50118095	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	23971153	50118095	40236658	387	9265											
NUP93	9688	broad.mit.edu	37	chr16	56855500	56855500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgtcgcagagctcgatGataaggtagcacctagagct	10	9	11	11	3	0	3	0	1	0	2	3	4	1	3	2	1	3	5	2	1	3	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:56855500G>T	ENST00000564887.1	+	5	909	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	NUP93_ENST00000542526.1_Missense_Mutation_p.D94Y|NUP93_ENST00000569842.1_Missense_Mutation_p.D217Y|NUP93_ENST00000308159.5_Missense_Mutation_p.D217Y	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	217					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGAGCTCGATGATAAGGTAGC	0.458													14	57					2.61681e-11	3.22466e-11	1	0	T	56855500	G	T	56855500	3	4	47	1	0	0	0	0	1	0	0	0	10843	1290	45	2	671	2	NUP93	16	56855500	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	6737405	56855500	33499253	388	9266											
CKLF	51192	broad.mit.edu	37	chr16	66597056	66597056	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactggtaacaacagtatTcatgctcatcgtatctgtgt	10	14	7	10	1	4	0	3	0	1	0	5	0	4	0	0	1	3	4	0	1	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:66597056T>C	ENST00000264001.4	+	3	418	c.269T>C	c.(268-270)tTc>tCc	p.F90S	CKLF_ENST00000532838.1_Missense_Mutation_p.F37S|CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000351137.4_Missense_Mutation_p.F37S|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000345436.4_Intron|CKLF_ENST00000417030.2_Missense_Mutation_p.F90S|CKLF_ENST00000362093.4_Intron	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		ACAACAGTATTCATGCTCATC	0.393													14	46					0	0	0	0	C	66597056	T	C	66597056	3	2	47	1	0	0	0	0	1	0	0	0	3477	1783	62	5	279	5	CKLF	16	66597056	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	9741556	66597056	23757697	389	9267											
ELMO3	79767	broad.mit.edu	37	chr16	67233226	67233226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggcgcccacgtcccagctgGaccatggcgcctccgcggaa	7	4	13	17	5	0	0	0	0	0	0	2	2	2	2	5	4	1	1	5	4	1	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:67233226G>C	ENST00000393997.2	+	1	213	c.156G>C	c.(154-156)tgG>tgC	p.W52C	ELMO3_ENST00000360833.1_Missense_Mutation_p.W52C	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	0					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GTCCCAGCTGGACCATGGCGC	0.682													10	23					0	0	0	0	C	67233226	G	C	67233226	3	2	47	1	0	0	0	0	1	0	0	0	5105	1183	41	2	158	2	ELMO3	16	67233226	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	636170	67233226	23121527	390	9268											
MARVELD3	91862	broad.mit.edu	37	chr16	71668581	71668581	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagtttccacggagcagatAtaggagctggaatctttgct	10	11	12	8	1	1	1	0	0	1	1	2	4	2	4	1	3	3	5	1	3	3	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr16:71668581A>G	ENST00000268485.3	+	3	1125	c.1081A>G	c.(1081-1083)Ata>Gta	p.I361V	MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	361	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CGGAGCAGATATAGGAGCTGG	0.537													20	54					0	0	0	0	G	71668581	A	G	71668581	3	3	47	1	0	0	0	0	1	0	0	0	9388	449	16	5	1091	5	MARVELD3	16	71668581	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	4435355	71668581	18686172	391	9269											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:7577121G>T	ENST00000420246.2	-	8	949	c.817C>A	c.(817-819)Cgt>Agt	p.R273S	TP53_ENST00000359597.4_Missense_Mutation_p.R273S|TP53_ENST00000269305.4_Missense_Mutation_p.R273S|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273S|TP53_ENST00000455263.2_Missense_Mutation_p.R273S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	6					0.00307968	0.00313987	1	0	T	7577121	G	T	7577121	3	4	47	1	0	0	0	0	1	0	0	0	16476	1087	38	3	469	3	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08		7577121	73618089	392	9270											
DNAH2	146754	broad.mit.edu	37	chr17	7663202	7663202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctctgtcttctgccacctcCctgacattctcaccaagcgc	6	12	5	18	1	4	1	1	1	4	0	7	1	5	1	4	0	2	0	4	0	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:7663202C>A	ENST00000572933.1	+	17	4191	c.2731C>A	c.(2731-2733)Cct>Act	p.P911T	DNAH2_ENST00000389173.2_Missense_Mutation_p.P911T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	911	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGCCACCTCCCTGACATTCT	0.537													82	140					7.83748e-43	1.13834e-42	1	0	A	7663202	C	A	7663202	3	1	47	1	0	0	0	0	1	0	0	0	4639	623	22	4	2793	4	DNAH2	17	7663202	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	86081	7663202	73532008	393	9271											
USP43	124739	broad.mit.edu	37	chr17	9596531	9596531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacagtcggcccctctgtCactgggcagttgacaggtaa	9	8	13	11	1	2	1	1	1	1	0	3	2	2	2	2	4	0	3	2	4	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:9596531C>T	ENST00000570827.2	+	9	1582	c.508C>T	c.(508-510)Cac>Tac	p.H170Y	USP43_ENST00000285199.6_Missense_Mutation_p.H481Y|USP43_ENST00000570475.1_Missense_Mutation_p.H481Y			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	481					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GCCCCTCTGTCACTGGGCAGT	0.507													7	15					0	0	0	0	T	9596531	C	T	9596531	3	4	47	1	0	0	0	0	1	0	0	0	17170	826	29	2	1475	2	USP43	17	9596531	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1933329	9596531	71598679	394	9272											
MPRIP	23164	broad.mit.edu	37	chr17	17030066	17030066	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaaccagtgcacagatgtGgtggatggggagggccgcac	10	6	17	8	1	0	2	0	1	0	1	0	4	0	4	2	5	2	2	2	5	1	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:17030066G>A	ENST00000395811.5	+	4	407	c.318G>A	c.(316-318)gtG>gtA	p.V106V	MPRIP_ENST00000444976.1_Silent_p.V106V|MPRIP_ENST00000395804.3_Silent_p.V106V|MPRIP_ENST00000341712.4_Silent_p.V106V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	106	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCACAGATGTGGTGGATGGGG	0.602													22	32					0	0	0	0	A	17030066	G	A	17030066	2	1	47	1	0	0	0	0	0	0	0	1	9813	1335	47	4		4	MPRIP	17	17030066	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	7433535	17030066	64165144	395	9273											
FLOT2	2319	broad.mit.edu	37	chr17	27211325	27211325	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgcaacgtcataatctctAgggaaatcctgccaagaaac	14	8	8	11	1	2	1	1	0	1	1	4	2	3	2	2	1	4	2	2	1	6	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:27211325A>G	ENST00000394906.2	-	5	382	c.305T>C	c.(304-306)cTa>cCa	p.L102P	FLOT2_ENST00000394908.4_Missense_Mutation_p.L47P|FLOT2_ENST00000585169.1_Intron|FLOT2_ENST00000577789.1_Intron			Q14254	FLOT2_HUMAN	flotillin 2	47					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CATAATCTCTAGGGAAATCCT	0.602													12	43					0	0	0	0	G	27211325	A	G	27211325	3	3	47	1	0	0	0	0	1	0	0	0	5982	420	15	5	1182	5	FLOT2	17	27211325	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	10181259	27211325	53983885	396	9274											
SLFN11	91607	broad.mit.edu	37	chr17	33690816	33690816	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacaaccagggggcactgaTttgcctccatgttgaactca	10	9	9	13	0	1	2	1	2	0	0	2	2	2	2	4	2	3	2	4	2	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:33690816T>A	ENST00000394566.1	-	4	283	c.11A>T	c.(10-12)aAt>aTt	p.N4I	SLFN11_ENST00000308377.4_Missense_Mutation_p.N4I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	4						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGCACTGATTTGCCTCCAT	0.378													15	56					0	0	0	0	A	33690816	T	A	33690816	3	1	47	1	0	0	0	0	1	0	0	0	14821	1493	52	5	2710	5	SLFN11	17	33690816	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	6479491	33690816	47504394	397	9275											
SYNRG	11276	broad.mit.edu	37	chr17	35914140	35914140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcatcagttcctgcagatCtgaattctgcaaagctttct	10	14	6	11	0	5	2	2	1	3	1	6	2	6	2	1	0	3	4	1	0	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:35914140C>T	ENST00000339208.6	-	14	1825	c.1685G>A	c.(1684-1686)aGa>aAa	p.R562K	SYNRG_ENST00000394378.2_Missense_Mutation_p.R484K|SYNRG_ENST00000591288.1_Missense_Mutation_p.R401K|SYNRG_ENST00000346661.4_Missense_Mutation_p.R562K|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Missense_Mutation_p.R483K|SYNRG_ENST00000502449.2_Missense_Mutation_p.R484K|SYNRG_ENST00000345615.4_Missense_Mutation_p.R484K	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	562	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCTGCAGATCTGAATTCTGC	0.383													22	58					0	0	0	0	T	35914140	C	T	35914140	3	4	47	1	0	0	0	0	1	0	0	0	15551	913	32	2	2368	2	SYNRG	17	35914140	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	2223324	35914140	45281070	398	9276											
TTC25	83538	broad.mit.edu	37	chr17	40094865	40094865	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggacctcatcatgacGggcatcaactacctggatac	11	8	11	11	1	3	1	3	1	0	0	3	4	3	4	2	4	3	1	2	4	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:40094865G>T	ENST00000591658.1	+	0	749							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TCATCATGACGGGCATCAACT	0.587													37	116					4.14481e-20	5.69002e-20	1	0	T	40094865	G	T	40094865	1	4	47	0	1	0	0	0	0	0	0	0	16789	1103	39	3		3	TTC25	17	40094865	RNA	SNP	G	TCGA-BB-7871-01A-11D-2229-08	4180725	40094865	41100345	399	9277											
WNT9B	7484	broad.mit.edu	37	chr17	44954072	44954072	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggagcttgtgtacacCtgcaagcactaggcctactg	10	8	12	11	0	0	0	0	0	0	0	0	2	0	2	2	3	5	4	2	3	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:44954072C>A	ENST00000290015.2	+	4	1115	c.1062C>A	c.(1060-1062)acC>acA	p.T354T	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	354					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TTGTGTACACCTGCAAGCACT	0.637													11	15					6.40141e-05	6.78051e-05	1	0	A	44954072	C	A	44954072	2	1	47	1	0	0	0	0	0	0	0	1	17495	668	24	4		4	WNT9B	17	44954072	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	4859207	44954072	36241138	400	9278											
STXBP4	252983	broad.mit.edu	37	chr17	53108627	53108627	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggacagtgtcttttggaggTaatattaggtttattgtgtt	8	18	13	2	0	1	0	0	0	1	0	1	2	1	2	0	4	0	3	0	4	4	9			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:53108627T>C	ENST00000376352.2	+	9	970		c.e9+2		STXBP4_ENST00000405898.1_Splice_Site|STXBP4_ENST00000434978.2_Splice_Site|STXBP4_ENST00000299341.4_Splice_Site|STXBP4_ENST00000398391.2_Splice_Site	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4							cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CTTTTGGAGGTAATATTAGGT	0.378													7	18					0	0	0	0	C	53108627	T	C	53108627	5	2	47	1	0	0	0	0	0	0	1	0	15445	1652	57	5	791	5	STXBP4	17	53108627	Splice_Site	SNP	T	TCGA-BB-7871-01A-11D-2229-08	8154555	53108627	28086583	401	9279											
MPO	4353	broad.mit.edu	37	chr17	56349015	56349015	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgacgcctgcccctcctcaCcgatcaccatcccggagctt	7	7	7	20	4	2	0	2	0	0	0	4	3	4	1	7	1	2	1	7	1	0	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:56349015C>T	ENST00000340482.3	-	10	2303		c.e10+1		MPO_ENST00000225275.3_Splice_Site			P05164	PERM_HUMAN	myeloperoxidase						anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCCCTCCTCACCGATCACCAT	0.642													6	33					0	0	0	0	T	56349015	C	T	56349015	5	4	47	1	0	0	0	0	0	0	1	0	9802	521	18	4	214	4	MPO	17	56349015	Splice_Site	SNP	C	TCGA-BB-7871-01A-11D-2229-08	3240388	56349015	24846195	402	9280											
PPM1E	22843	broad.mit.edu	37	chr17	57058234	57058234	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaaaataggcactagcCtgtcctcacttactggaagt	12	9	7	13	0	1	0	1	0	0	0	2	1	2	1	3	2	2	1	3	2	6	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:57058234C>T	ENST00000308249.2	+	7	2239	c.2110C>T	c.(2110-2112)Ctg>Ttg	p.L704L		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	713					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AGGCACTAGCCTGTCCTCACT	0.433													25	59					0	0	0	0	T	57058234	C	T	57058234	2	4	47	1	0	0	0	0	0	0	0	1	12414	680	24	4		4	PPM1E	17	57058234	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	709219	57058234	24136976	403	9281											
PRR11	55771	broad.mit.edu	37	chr17	57247237	57247237	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctccaccaccctcaccaGaaaggtaaggcttaatgtgg	11	8	8	14	0	1	1	1	0	0	1	3	1	3	1	5	3	0	2	5	3	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:57247237G>C	ENST00000262293.4	+	2	436	c.124G>C	c.(124-126)Gaa>Caa	p.E42Q		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	42										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACCCTCACCAGAAAGGTAAGG	0.388													10	34					0	0	0	0	C	57247237	G	C	57247237	3	2	47	1	0	0	0	0	1	0	0	0	12663	943	33	2	126	2	PRR11	17	57247237	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	189003	57247237	23947973	404	9282											
GDPD1	284161	broad.mit.edu	37	chr17	57298104	57298104	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtaaacacatctctcAccgcggaggtgagaggggtc	10	7	12	12	2	3	1	2	1	1	1	5	3	3	2	2	4	1	1	2	4	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:57298104A>G	ENST00000284116.4	+	1	271	c.134A>G	c.(133-135)cAc>cGc	p.H45R	GDPD1_ENST00000581276.1_Missense_Mutation_p.H45R|GDPD1_ENST00000581140.1_Missense_Mutation_p.H45R	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	45	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CACATCTCTCACCGCGGAGGT	0.572											OREG0024617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	81					0	0	0	0	G	57298104	A	G	57298104	3	3	47	1	0	0	0	0	1	0	0	0	6374	159	6	5	136	5	GDPD1	17	57298104	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	50867	57298104	23897106	405	9283											
GH2	2689	broad.mit.edu	37	chr17	61957807	61957807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagtgcgtcatcgttgtgCgattttgtgtcaaacttgct	7	15	11	8	3	2	0	2	0	0	0	3	1	2	0	0	0	5	3	0	0	1	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:61957807C>T	ENST00000456543.2	-	5	564	c.524G>A	c.(523-525)cGc>cAc	p.R175H	GH2_ENST00000423893.2_Silent_p.S176S|GH2_ENST00000332800.7_3'UTR|GH2_ENST00000449787.2_Silent_p.S161S			P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CATCGTTGTGCGATTTTGTGT	0.542													28	95					0	0	0	0	T	61957807	C	T	61957807	3	4	47	1	0	0	0	0	1	0	0	0	6419	768	27	1	217	1	GH2	17	61957807	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	4659703	61957807	19237403	406	9284											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625132	74625132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgaagctgtatttttcctCaaaatcccaccgaggctcag	10	12	7	12	2	2	0	2	0	0	0	5	2	4	0	3	1	1	3	3	1	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:74625132C>T	ENST00000156626.7	-	2	992	c.793G>A	c.(793-795)Gag>Aag	p.E265K	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	265					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TATTTTTCCTCAAAATCCCAC	0.567													25	99					0	0	0	0	T	74625132	C	T	74625132	3	4	47	1	0	0	0	0	1	0	0	0	15313	835	29	2	1041	2	ST6GALNAC1	17	74625132	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	12667325	74625132	6570078	407	9285			1	13		5	5	359	C		4.595747e-11
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625172	74625172	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatttgaagttggcggccttCagtctttggtttctctgcgt	4	17	12	8	2	3	1	1	1	2	0	4	2	3	1	1	3	1	2	1	3	1	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:74625172C>T	ENST00000156626.7	-	2	952	c.753G>A	c.(751-753)ctG>ctA	p.L251L	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	251					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	p.L251L(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGGCGGCCTTCAGTCTTTGGT	0.547													25	88					0	0	0	0	T	74625172	C	T	74625172	2	4	47	1	0	0	0	0	0	0	0	1	15313	813	29	2		2	ST6GALNAC1	17	74625172	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	40	74625172	6570038	408	9286			1	13		5	5	359	C		4.595747e-11
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625281	74625281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtggtcactcctttctgtCtcgtccttgttgacactgct	3	17	8	13	1	3	1	1	1	2	0	6	1	5	1	2	1	1	2	2	1	0	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:74625281C>G	ENST00000156626.7	-	2	843	c.644G>C	c.(643-645)aGa>aCa	p.R215T	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	215					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TCCTTTCTGTCTCGTCCTTGT	0.577													30	118					0	0	0	0	G	74625281	C	G	74625281	3	3	47	1	0	0	0	0	1	0	0	0	15313	913	32	2	1190	2	ST6GALNAC1	17	74625281	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	109	74625281	6569929	409	9287			1	13		5	5	359	C		4.595747e-11
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625381	74625381	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctttgccctggtgcttctCtgacaccgtcctggaggccg	3	11	12	15	3	1	1	0	1	1	0	3	2	2	2	4	3	2	2	4	3	0	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:74625381C>G	ENST00000156626.7	-	2	743	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	182					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGGTGCTTCTCTGACACCGTC	0.577													56	252					0	0	0	0	G	74625381	C	G	74625381	3	3	47	1	0	0	0	0	1	0	0	0	15313	922	32	2	1290	2	ST6GALNAC1	17	74625381	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	100	74625381	6569829	410	9288			1	13		5	5	359	C		4.595747e-11
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625490	74625490	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctgtcctgccagaggccatCcctgcatcttgccctctggg	4	11	10	16	0	3	1	0	0	3	1	5	1	5	1	5	2	3	1	5	2	0	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:74625490C>G	ENST00000156626.7	-	2	634	c.435G>C	c.(433-435)ggG>ggC	p.G145G	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	145					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CAGAGGCCATCCCTGCATCTT	0.572													49	240					0	0	0	0	G	74625490	C	G	74625490	2	3	47	1	0	0	0	0	0	0	0	1	15313	842	30	2		2	ST6GALNAC1	17	74625490	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	109	74625490	6569720	411	9289			1	13		5	5	359	C		4.595747e-11
TNRC6C	57690	broad.mit.edu	37	chr17	76082941	76082941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcctgccaggttgcgcGcacaatcactaatctgcagc	8	9	9	15	2	3	0	1	0	2	0	3	0	3	0	2	1	5	3	2	1	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:76082941G>A	ENST00000335749.4	+	13	4129	c.3560G>A	c.(3559-3561)cGc>cAc	p.R1187H	TNRC6C_ENST00000588061.1_Missense_Mutation_p.R1190H|TNRC6C_ENST00000301624.4_Missense_Mutation_p.R1190H|TNRC6C_ENST00000544502.1_Missense_Mutation_p.R1187H|TNRC6C_ENST00000541771.1_Missense_Mutation_p.R1190H|TNRC6C_ENST00000588847.1_Missense_Mutation_p.R1187H	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1190					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGGTTGCGCGCACAATCACT	0.592													51	175					0	0	0	0	A	76082941	G	A	76082941	3	1	47	1	0	0	0	0	1	0	0	0	16436	1087	38	1	3611	1	TNRC6C	17	76082941	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1457451	76082941	5112269	412	9290											
CYTH1	9267	broad.mit.edu	37	chr17	76694411	76694411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgagtgaggtcattccCgtcgtcttctgggattttaa	7	15	12	7	2	3	2	1	2	2	0	5	3	4	3	1	2	0	0	1	2	1	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:76694411C>A	ENST00000589297.1	-	9	1266	c.574G>T	c.(574-576)Ggg>Tgg	p.G192W	CYTH1_ENST00000585509.1_Missense_Mutation_p.G192W|CYTH1_ENST00000446868.3_Missense_Mutation_p.G251W|CYTH1_ENST00000591455.1_Missense_Mutation_p.G251W|CYTH1_ENST00000361101.4_Missense_Mutation_p.G251W|CYTH1_ENST00000589296.1_Intron			Q15438	CYH1_HUMAN	cytohesin 1	251	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.G251W(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGGTCATTCCCGTCGTCTTCT	0.413													42	175					9.84934e-19	1.32595e-18	1	0	A	76694411	C	A	76694411	3	1	47	1	0	0	0	0	1	0	0	0	4235	652	23	3	465	3	CYTH1	17	76694411	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	611470	76694411	4500799	413	9291											
CCDC40	55036	broad.mit.edu	37	chr17	78013758	78013758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcagcagtggaaggggaaGaggaggctgtgtcctatgga	12	6	18	5	0	0	1	0	0	0	1	1	5	1	5	1	6	2	3	1	6	4	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:78013758G>A	ENST00000397545.4	+	3	268	c.241G>A	c.(241-243)Gag>Aag	p.E81K	CCDC40_ENST00000269318.5_Missense_Mutation_p.E81K|CCDC40_ENST00000374877.3_Missense_Mutation_p.E81K|CCDC40_ENST00000374876.4_Missense_Mutation_p.E81K	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	81					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ggaaggggaagaggaggCTGT	0.517													24	73					0	0	0	0	A	78013758	G	A	78013758	3	1	47	1	0	0	0	0	1	0	0	0	2838	943	33	2	251	2	CCDC40	17	78013758	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1319347	78013758	3181452	414	9292											
AATK	9625	broad.mit.edu	37	chr17	79094652	79094652	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagacggctgcccagtgctCggcaggcccagctctggccc	5	6	13	17	2	2	1	1	0	1	1	3	1	2	1	3	4	3	4	3	4	0	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:79094652C>T	ENST00000326724.4	-	11	3108	c.3084G>A	c.(3082-3084)ccG>ccA	p.P1028P	AATK_ENST00000417379.1_Silent_p.P925P	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1028				P -> R (in Ref. 4; AAH47378).		integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCCAGTGCTCGGCAGGCCCA	0.706													3	13					0	0	0	0	T	79094652	C	T	79094652	2	4	47	1	0	0	0	0	0	0	0	1	26	871	31	1		1	AATK	17	79094652	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1080894	79094652	2100558	415	9293											
CD7	924	broad.mit.edu	37	chr17	80275332	80275332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggccgcgagccagcgccaGaagcaggggcagcagcagga	11	0	17	13	3	0	1	0	0	0	1	0	3	0	2	3	4	5	4	3	4	1	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr17:80275332G>C	ENST00000584284.1	-	1	121	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V	CD7_ENST00000578509.1_5'UTR|CD7_ENST00000312648.3_Missense_Mutation_p.L14V|CD7_ENST00000583376.1_5'UTR			P09564	CD7_HUMAN	CD7 molecule	14					immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GCCAGCGCCAGAAGCAGGGGC	0.692													3	6					0	0	0	0	C	80275332	G	C	80275332	3	2	47	1	0	0	0	0	1	0	0	0	3061	933	33	2	698	2	CD7	17	80275332	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1180680	80275332	919878	416	9294											
RALBP1	10928	broad.mit.edu	37	chr18	9517250	9517250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttttccgtgaatgtataGattacgtagagaagtatggc	11	13	11	6	3	0	3	0	1	0	2	1	4	1	3	2	1	1	4	2	1	7	7			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:9517250G>T	ENST00000019317.4	+	3	875	c.652G>T	c.(652-654)Gat>Tat	p.D218Y	RALBP1_ENST00000383432.3_Missense_Mutation_p.D218Y			Q15311	RBP1_HUMAN	ralA binding protein 1	218	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						TGAATGTATAGATTACGTAGA	0.413													16	37					9.16793e-09	1.06675e-08	1	0	T	9517250	G	T	9517250	3	4	47	1	0	0	0	0	1	0	0	0	13094	942	33	2	658	2	RALBP1	18	9517250	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08		9517250	68559998	417	9295											
ABHD3	171586	broad.mit.edu	37	chr18	19244105	19244105	+	Silent	SNP	G	G	A																															attgaaacccctgctgccagGaaaggagcagaagggtacag																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:19244105G>A	ENST00000289119.2	-	5	781	c.642C>T	c.(640-642)ttC>ttT	p.F214F	ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000580981.1_Intron	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	214						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CTGCTGCCAGGAAAGGAGCAG	0.448													18	24					0	0	0	0	A	19244105	G	A	19244105	2	1	47	1	0	0	0	0	0	0	0	1	83	1165	41	2		2	ABHD3	18	19244105	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	9726855	19244105	58833143	418	9296	88	2									
ABHD3	171586	broad.mit.edu	37	chr18	19244115	19244115	+	Missense_Mutation	SNP	G	G	A																															ctgctgccaggaaaggagcaGaagggtacaggctgtgtaca																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:19244115G>A	ENST00000289119.2	-	5	771	c.632C>T	c.(631-633)tCt>tTt	p.S211F	ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000580981.1_Intron	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	211						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						GAAAGGAGCAGAAGGGTACAG	0.443													18	23					0	0	0	0	A	19244115	G	A	19244115	3	1	47	1	0	0	0	0	1	0	0	0	83	942	33	2	617	2	ABHD3	18	19244115	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	10	19244115	58833133	419	9297	88	2									
MIB1	57534	broad.mit.edu	37	chr18	19427048	19427048	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgtcctgatccgaatctCtgcaaagcactggcaaagtg	10	10	9	12	1	2	1	0	1	2	0	5	2	4	1	2	1	2	3	2	1	3	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:19427048C>T	ENST00000261537.6	+	16	2619	c.2355C>T	c.(2353-2355)ctC>ctT	p.L785L	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	785					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATCCGAATCTCTGCAAAGCAC	0.393													14	41					0	0	0	0	T	19427048	C	T	19427048	2	4	47	1	0	0	0	0	0	0	0	1	9635	900	32	2		2	MIB1	18	19427048	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	182933	19427048	58650200	420	9298											
LAMA3	3909	broad.mit.edu	37	chr18	21419890	21419890	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcaccttgaaggcaccGcaggtagtgtgctgtttcta	7	11	14	9	1	2	1	1	1	1	0	2	1	2	1	2	4	1	5	2	4	3	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:21419890G>A	ENST00000313654.9	+	27	3574	c.3333G>A	c.(3331-3333)ccG>ccA	p.P1111P	LAMA3_ENST00000399516.3_Silent_p.P1111P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1111	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAAGGCACCGCAGGTAGTGT	0.488													22	46					0	0	0	0	A	21419890	G	A	21419890	2	1	47	1	0	0	0	0	0	0	0	1	8660	1074	38	1		1	LAMA3	18	21419890	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1992842	21419890	56657358	421	9299											
NOL4	8715	broad.mit.edu	37	chr18	31684009	31684009	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgtagatgtttttattttAcctcatcttgctgtgagttt	8	21	7	5	0	2	2	1	1	1	1	2	2	2	2	1	0	2	4	1	0	4	8			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:31684009A>G	ENST00000261592.5	-	4	937		c.e4+1		NOL4_ENST00000535475.1_Splice_Site|NOL4_ENST00000269185.4_Splice_Site|NOL4_ENST00000538587.1_Splice_Site|NOL4_ENST00000589544.1_Splice_Site	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4							nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TTTTTATTTTACCTCATCTTG	0.373													15	40					0	0	0	0	G	31684009	A	G	31684009	5	3	47	1	0	0	0	0	0	0	1	0	10594	405	14	5	1307	5	NOL4	18	31684009	Splice_Site	SNP	A	TCGA-BB-7871-01A-11D-2229-08	10264119	31684009	46393239	422	9300											
INO80C	125476	broad.mit.edu	37	chr18	33077733	33077733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcttactggcgccatagcCcccgccgctgctgccattgt	4	11	9	17	3	1	0	0	0	1	0	1	0	1	0	5	1	4	2	5	1	2	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:33077733C>T	ENST00000592173.1	-	1	164	c.106G>A	c.(106-108)Ggc>Agc	p.G36S	INO80C_ENST00000334598.7_Missense_Mutation_p.G36S|INO80C_ENST00000441607.2_Missense_Mutation_p.G36S|RP11-322E11.6_ENST00000589258.1_Missense_Mutation_p.G36S|INO80C_ENST00000590757.1_Missense_Mutation_p.G36S			Q6PI98	IN80C_HUMAN	INO80 complex subunit C	36					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						GCGCCATAGCCCCCGCCGCTG	0.622													6	19					0	0	0	0	T	33077733	C	T	33077733	3	4	47	1	0	0	0	0	1	0	0	0	7801	623	22	4	608	4	INO80C	18	33077733	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1393724	33077733	44999515	423	9301											
GALNT1	2589	broad.mit.edu	37	chr18	33271142	33271142	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaattcaagaatttcttctAtataatttctccaggttagc	12	17	5	7	0	4	2	1	1	3	1	5	2	4	2	1	1	1	1	1	1	7	8			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr18:33271142A>G	ENST00000269195.5	+	7	1248	c.1145A>G	c.(1144-1146)tAt>tGt	p.Y382C	GALNT1_ENST00000537549.1_Missense_Mutation_p.Y322C	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	382					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						AATTTCTTCTATATAATTTCT	0.403													30	57					0	0	0	0	G	33271142	A	G	33271142	3	3	47	1	0	0	0	0	1	0	0	0	6256	449	16	5	1171	5	GALNT1	18	33271142	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	193409	33271142	44806106	424	9302											
ABCA7	10347	broad.mit.edu	37	chr19	1062258	1062258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgctgacgggccgcgaGcacctggagctgcttgcgcg	5	6	17	13	5	0	1	0	1	0	0	0	4	0	2	2	2	6	5	2	2	0	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:1062258G>A	ENST00000263094.6	+	42	5889	c.5658G>A	c.(5656-5658)gaG>gaA	p.E1886E	ABCA7_ENST00000435683.2_Silent_p.E1748E|ABCA7_ENST00000433129.1_Silent_p.E1886E	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1886	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CGGGCCGCGAGCACCTGGAGC	0.692													67	125					0	0	0	0	A	1062258	G	A	1062258	2	1	47	1	0	0	0	0	0	0	0	1	37	962	34	4		4	ABCA7	19	1062258	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08		1062258	58066725	425	9303											
SIRT6	51548	broad.mit.edu	37	chr19	4174811	4174811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgggggtgggcgggcGgggcaggggtggcagcgccc	3	4	24	10	3	0	0	0	0	0	0	0	0	0	0	1	9	2	3	1	9	0	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:4174811G>A	ENST00000337491.2	-	8	935	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	SIRT6_ENST00000594279.1_3'UTR|SIRT6_ENST00000305232.6_Missense_Mutation_p.R264C|SIRT6_ENST00000381935.3_Missense_Mutation_p.R219C|SIRT6_ENST00000601488.1_3'UTR	NM_016539.2	NP_057623.2	Q8N6T7	SIRT6_HUMAN	sirtuin 6	291	Pro-rich.				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGCGGGCGGGGCAGGGGT	0.706													6	6					0	0	0	0	A	4174811	G	A	4174811	3	1	47	1	0	0	0	0	1	0	0	0	14430	1116	39	1	200	1	SIRT6	19	4174811	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	3112553	4174811	54954172	426	9304											
SHD	56961	broad.mit.edu	37	chr19	4280258	4280258	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggactccaagaacccCggagatgccaagtatggttc	10	7	12	12	1	0	2	0	0	0	2	2	4	1	3	5	4	2	2	5	4	4	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:4280258C>A	ENST00000543264.2	+	1	1661	c.198C>A	c.(196-198)ccC>ccA	p.P66P	SHD_ENST00000599689.1_Silent_p.P66P	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	66										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAAGAACCCCGGAGATGCCA	0.672													10	31					0.000442599	0.000460245	1	0	A	4280258	C	A	4280258	2	1	47	1	0	0	0	0	0	0	0	1	14363	639	23	3		3	SHD	19	4280258	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	105447	4280258	54848725	427	9305											
UHRF1	29128	broad.mit.edu	37	chr19	4950897	4950897	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatactggcccgagaagggGaagtccgggtttctcgtgtg	9	9	15	8	3	1	1	0	0	1	1	3	3	2	2	2	4	1	1	2	4	4	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:4950897G>T	ENST00000592666.1	+	0	2283							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCGAGAAGGGGAAGTCCGGGT	0.642													29	97					6.00712e-18	8.05237e-18	1	0	T	4950897	G	T	4950897	1	4	47	0	1	0	0	0	0	0	0	0	17063	1161	41	2		2	UHRF1	19	4950897	RNA	SNP	G	TCGA-BB-7871-01A-11D-2229-08	670639	4950897	54178086	428	9306											
ACSBG2	81616	broad.mit.edu	37	chr19	6177296	6177296	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaactgacagacaagcatgaGacggtggttagctacctccc	13	7	10	11	1	0	3	0	2	0	2	1	4	1	3	2	2	4	3	2	2	4	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:6177296G>A	ENST00000588304.1	+	8	1091	c.645G>A	c.(643-645)gaG>gaA	p.E215E	ACSBG2_ENST00000586696.1_Silent_p.E265E|ACSBG2_ENST00000252669.5_Silent_p.E265E|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000591403.1_Silent_p.E265E|ACSBG2_ENST00000588485.1_Silent_p.E78E			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	265					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACAAGCATGAGACGGTGGTTA	0.488													17	43					0	0	0	0	A	6177296	G	A	6177296	2	1	47	1	0	0	0	0	0	0	0	1	174	933	33	2		2	ACSBG2	19	6177296	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1226399	6177296	52951687	429	9307											
ACSBG2	81616	broad.mit.edu	37	chr19	6177365	6177365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatctgggtacccataaaGattggggcgctcacatactt	11	10	10	10	1	2	1	1	0	1	1	2	2	2	1	1	3	2	2	1	3	4	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:6177365G>T	ENST00000588304.1	+	8	1160	c.714G>T	c.(712-714)aaG>aaT	p.K238N	ACSBG2_ENST00000586696.1_Missense_Mutation_p.K288N|ACSBG2_ENST00000252669.5_Missense_Mutation_p.K288N|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000591403.1_Missense_Mutation_p.K288N|ACSBG2_ENST00000588485.1_Missense_Mutation_p.K101N			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	288					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACCCATAAAGATTGGGGCGC	0.507													12	45					6.40141e-05	6.78051e-05	1	0	T	6177365	G	T	6177365	3	4	47	1	0	0	0	0	1	0	0	0	174	933	33	2	890	2	ACSBG2	19	6177365	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	69	6177365	52951618	430	9308											
MUC16	94025	broad.mit.edu	37	chr19	9075421	9075421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatagtcaagaaggaattagGctctgttctagcccttgtag	12	12	10	7	0	3	1	1	0	2	1	3	2	3	2	1	2	1	3	1	2	8	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:9075421G>A	ENST00000397910.4	-	3	12228	c.12025C>T	c.(12025-12027)Cct>Tct	p.P4009S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4011	Ser-rich.|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						AAGGAATTAGGCTCTGTTCTA	0.473													19	69					0	0	0	0	A	9075421	G	A	9075421	3	1	47	1	0	0	0	0	1	0	0	0	10043	1203	42	4	31826	4	MUC16	19	9075421	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2898056	9075421	50053562	431	9309											
COL5A3	50509	broad.mit.edu	37	chr19	10071183	10071183	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacaggggcagaaatccCgctcgagaagagctgaattc	12	6	11	12	2	0	4	0	1	0	3	4	5	2	4	2	2	1	3	2	2	3	1	rs144662581		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:10071183C>T	ENST00000264828.3	-	67	5227	c.5142G>A	c.(5140-5142)gcG>gcA	p.A1714A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1714	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCAGAAATCCCGCTCGAGAAG	0.567													24	91					0	0	0	0	T	10071183	C	T	10071183	2	4	47	1	0	0	0	0	0	0	0	1	3728	639	23	1		1	COL5A3	19	10071183	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	995762	10071183	49057800	432	9310											
CARM1	10498	broad.mit.edu	37	chr19	11031564	11031564	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccactacacatctccctcGgaaaacatgtggaacacggg	12	7	8	14	2	1	0	0	0	1	0	4	2	2	2	2	3	3	0	2	3	4	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:11031564G>C	ENST00000327064.4	+	13	1669	c.1479G>C	c.(1477-1479)tcG>tcC	p.S493S	CARM1_ENST00000344150.4_Silent_p.S493S	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	493					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CATCTCCCTCGGAAAACATGT	0.657													55	84					0	0	0	0	C	11031564	G	C	11031564	2	2	47	1	0	0	0	0	0	0	0	1	2680	1103	39	3		3	CARM1	19	11031564	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	960381	11031564	48097419	433	9311											
ZNF700	90592	broad.mit.edu	37	chr19	12059494	12059494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatggtaatgcacagtgggGatggaacttataaatgtaaa	16	10	11	4	0	0	0	0	0	0	0	0	2	0	2	0	4	2	3	0	4	7	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:12059494G>T	ENST00000482090.1	+	3	1019	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.D219Y			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GCACAGTGGGGATGGAACTTA	0.378													44	80					3.76604e-16	4.96324e-16	1	0	T	12059494	G	T	12059494	3	4	47	1	0	0	0	0	1	0	0	0	18199	1174	41	2	669	2	ZNF700	19	12059494	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1027930	12059494	47069489	434	9312											
ZNF564	163050	broad.mit.edu	37	chr19	12637604	12637604	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctccagtgtgcagtatcaTatgttttctaatccttttaa	10	18	5	8	0	3	0	1	0	2	0	5	0	4	0	2	0	1	3	2	0	4	7			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:12637604T>C	ENST00000339282.7	-	4	1514	c.1318A>G	c.(1318-1320)Atg>Gtg	p.M440V	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TGCAGTATCATATGTTTTCTA	0.393													107	138					0	0	0	0	C	12637604	T	C	12637604	3	2	47	1	0	0	0	0	1	0	0	0	18090	1406	49	5	347	5	ZNF564	19	12637604	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	578110	12637604	46491379	435	9313											
ZNF564	163050	broad.mit.edu	37	chr19	12638134	12638134	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaaataaactggggcggTcaaaggcttttccacattcc	11	11	9	10	2	1	0	1	0	0	0	4	1	3	0	2	4	1	1	2	4	4	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:12638134T>A	ENST00000339282.7	-	4	984	c.788A>T	c.(787-789)gAc>gTc	p.D263V	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						ACTGGGGCGGTCAAAGGCTTT	0.393													61	67					0	0	0	0	A	12638134	T	A	12638134	3	1	47	1	0	0	0	0	1	0	0	0	18090	1667	58	5	877	5	ZNF564	19	12638134	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	530	12638134	46490849	436	9314											
TNPO2	30000	broad.mit.edu	37	chr19	12825665	12825665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaggccaggacttccttgCagatgggctgctcggccagc	6	7	16	12	1	0	1	0	0	0	1	2	3	1	3	3	5	3	3	3	5	0	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:12825665C>A	ENST00000425528.1	-	10	1217	c.860G>T	c.(859-861)tGc>tTc	p.C287F	TNPO2_ENST00000441499.1_Missense_Mutation_p.C287F|TNPO2_ENST00000450764.2_Missense_Mutation_p.C287F|TNPO2_ENST00000588216.1_Missense_Mutation_p.C287F|TNPO2_ENST00000356861.5_Missense_Mutation_p.C287F|TNPO2_ENST00000592287.1_Missense_Mutation_p.C287F|TNPO2_ENST00000589956.1_Intron			O14787	TNPO2_HUMAN	transportin 2	287					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACTTCCTTGCAGATGGGCTG	0.607													20	86					0.000175454	0.000184286	1	0	A	12825665	C	A	12825665	3	1	47	1	0	0	0	0	1	0	0	0	16430	710	25	4	1897	4	TNPO2	19	12825665	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	187531	12825665	46303318	437	9315											
ZNF99	7652	broad.mit.edu	37	chr19	22952081	22952081	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgtccaggcattgccactCctccagagcgaattctatgg	9	10	9	13	1	1	1	0	0	1	1	4	2	4	1	4	2	2	1	4	2	2	3	rs149345966	by1000genomes	TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:22952081C>A	ENST00000397104.3	-	2	111	c.112G>T	c.(112-114)Gag>Tag	p.E38*	ZNF99_ENST00000596209.1_Nonsense_Mutation_p.E17*					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTGCCACTCCTCCAGAGCG	0.403													47	72					2.77807e-22	3.8646e-22	1	0	A	22952081	C	A	22952081	4	1	47	1	0	0	0	0	0	1	0	0	18297	864	30	2	3024	2	ZNF99	19	22952081	Nonsense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	10126416	22952081	36176902	438	9316											
ZNF536	9745	broad.mit.edu	37	chr19	30935222	30935222	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccacagcgttcccgacgtGgcccacccggtgccctcgcc	6	5	10	20	5	0	0	0	0	0	0	2	1	1	0	6	2	3	1	6	2	1	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:30935222G>A	ENST00000355537.3	+	2	900	c.753G>A	c.(751-753)gtG>gtA	p.V251V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTCCCGACGTGGCCCACCCGG	0.736													3	17					0	0	0	0	A	30935222	G	A	30935222	2	1	47	1	0	0	0	0	0	0	0	1	18069	1335	47	4		4	ZNF536	19	30935222	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	7983141	30935222	28193761	439	9317											
FFAR2	2867	broad.mit.edu	37	chr19	35940839	35940839	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcgtcgaacttccgcTggtacctgcccaaggtcgtc	6	9	12	14	4	0	0	0	0	0	0	4	1	1	0	3	3	4	3	3	3	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:35940839T>A	ENST00000599180.1	+	2	303	c.223T>A	c.(223-225)Tgg>Agg	p.W75R	FFAR2_ENST00000246549.2_Missense_Mutation_p.W75R|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	75						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GAACTTCCGCTGGTACCTGCC	0.617													7	26					0	0	0	0	A	35940839	T	A	35940839	3	1	47	1	0	0	0	0	1	0	0	0	5873	1580	55	5	225	5	FFAR2	19	35940839	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	5005617	35940839	23188144	440	9318											
ATP4A	495	broad.mit.edu	37	chr19	36042383	36042383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaggcagagagacggcGcgtcttgcggatgaggacat	10	6	17	8	4	1	3	0	1	1	2	1	7	1	6	0	5	1	1	0	5	1	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:36042383G>A	ENST00000262623.3	-	19	2879	c.2851C>T	c.(2851-2853)Cgc>Tgc	p.R951C		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	951					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GAGAGACGGCGCGTCTTGCGG	0.597													11	27					0	0	0	0	A	36042383	G	A	36042383	3	1	47	1	0	0	0	0	1	0	0	0	1149	1087	38	1	272	1	ATP4A	19	36042383	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	101544	36042383	23086600	441	9319											
ZNF420	147923	broad.mit.edu	37	chr19	37618275	37618275	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagcatacttacttatctCaacattcaagatgtcattct	13	14	3	11	0	4	1	3	0	2	1	5	1	4	1	1	0	4	1	1	0	5	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:37618275C>G	ENST00000337995.3	+	5	597	c.382C>G	c.(382-384)Caa>Gaa	p.Q128E	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.Q128E	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTACTTATCTCAACATTCAAG	0.373													15	46					0	0	0	0	G	37618275	C	G	37618275	3	3	47	1	0	0	0	0	1	0	0	0	17992	827	29	2	392	2	ZNF420	19	37618275	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	1575892	37618275	21510708	442	9320											
TIMM50	92609	broad.mit.edu	37	chr19	39976330	39976330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccctctcccacagatGatcatcgagcccaccagccc	8	7	6	20	1	2	2	1	1	1	1	5	3	3	2	6	0	2	0	6	0	0	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:39976330G>T	ENST00000314349.4	+	6	817	c.684G>T	c.(682-684)atG>atT	p.M228I	TIMM50_ENST00000607714.1_Missense_Mutation_p.M125I|TIMM50_ENST00000544017.1_Missense_Mutation_p.M12I|TIMM50_ENST00000599794.1_Intron	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	125	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCCACAGATGATCATCGAGC	0.607													36	70					9.8876e-21	1.36637e-20	1	0	T	39976330	G	T	39976330	3	4	47	1	0	0	0	0	1	0	0	0	16007	1290	45	2	706	2	TIMM50	19	39976330	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	2358055	39976330	19152653	443	9321											
CEACAM3	1084	broad.mit.edu	37	chr19	42301849	42301849	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagtcagatcttgtgaaTgaagaagcaactggacagtt	16	10	10	5	0	2	4	1	2	1	2	2	5	2	5	0	1	2	2	0	1	6	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:42301849T>A	ENST00000357396.3	+	2	634	c.393T>A	c.(391-393)aaT>aaA	p.N131K	CEACAM3_ENST00000344550.4_Missense_Mutation_p.N131K|CEACAM3_ENST00000221999.4_Missense_Mutation_p.N131K|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	131	Ig-like V-type.					integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						ATCTTGTGAATGAAGAAGCAA	0.453													88	224					0	0	0	0	A	42301849	T	A	42301849	3	1	47	1	0	0	0	0	1	0	0	0	3222	1461	51	5	399	5	CEACAM3	19	42301849	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	2325519	42301849	16827134	444	9322											
TMEM145	284339	broad.mit.edu	37	chr19	42824523	42824523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatttcggcatccccaagtgGgcccgggagaagattgtcaa	11	8	12	10	2	1	2	1	0	0	2	3	3	2	2	3	3	0	1	3	3	4	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:42824523G>T	ENST00000598766.1	+	13	1200	c.1200G>T	c.(1198-1200)tgG>tgT	p.W400C	TMEM145_ENST00000301204.3_Missense_Mutation_p.W376C			Q8NBT3	TM145_HUMAN	transmembrane protein 145	376						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TCCCCAAGTGGGCCCGGGAGA	0.577													36	86					6.50621e-10	7.78755e-10	1	0	T	42824523	G	T	42824523	3	4	47	1	0	0	0	0	1	0	0	0	16153	1241	43	4	1178	4	TMEM145	19	42824523	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	522674	42824523	16304460	445	9323											
ZNF221	7638	broad.mit.edu	37	chr19	44470148	44470148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactatctataagtcacgTgcaacagaaaccttaccgtt	15	10	6	10	2	2	2	1	0	1	2	2	2	2	2	2	0	4	2	2	0	7	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:44470148T>C	ENST00000251269.5	+	6	822	c.494T>C	c.(493-495)gTg>gCg	p.V165A	ZNF221_ENST00000592350.1_Missense_Mutation_p.V165A|ZNF221_ENST00000587682.1_Missense_Mutation_p.V165A	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	165			V -> M (in dbSNP:rs16976937).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ATAAGTCACGTGCAACAGAAA	0.418													36	82					0	0	0	0	C	44470148	T	C	44470148	3	2	47	1	0	0	0	0	1	0	0	0	17870	1696	59	5	508	5	ZNF221	19	44470148	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	1645625	44470148	14658835	446	9324											
ZNF233	353355	broad.mit.edu	37	chr19	44777835	44777835	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagcacaggagagaaccTctacagatgtcaggtatatg	14	8	11	8	0	3	2	2	0	1	2	3	4	3	3	1	2	3	2	1	2	4	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:44777835T>A	ENST00000391958.2	+	5	1149	c.1022T>A	c.(1021-1023)cTc>cAc	p.L341H	ZNF233_ENST00000334152.1_Missense_Mutation_p.L323H|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GGAGAGAACCTCTACAGATGT	0.512													12	39					0	0	0	0	A	44777835	T	A	44777835	3	1	47	1	0	0	0	0	1	0	0	0	17881	1551	54	5	1036	5	ZNF233	19	44777835	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	307687	44777835	14351148	447	9325											
BCL2L12	83596	broad.mit.edu	37	chr19	50172114	50172114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttttcaccccaggcccagCtactccagacttctatgctt	7	13	5	16	0	3	1	1	0	2	1	4	1	4	1	4	1	3	2	4	1	2	6			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:50172114C>T	ENST00000246785.3	+	4	767	c.509C>T	c.(508-510)gCt>gTt	p.A170V	BCL2L12_ENST00000246784.3_Silent_p.S122S|BCL2L12_ENST00000441864.2_Missense_Mutation_p.A169V	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	170					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCAGGCCCAGCTACTCCAGAC	0.557													31	90					0	0	0	0	T	50172114	C	T	50172114	3	4	47	1	0	0	0	0	1	0	0	0	1374	797	28	4	523	4	BCL2L12	19	50172114	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	5394279	50172114	8956869	448	9326											
ZNF528	84436	broad.mit.edu	37	chr19	52909866	52909866	+	Frame_Shift_Del	DEL	G	G	-																															aaatagcaaacgatccagacGgcagggagtgcatcaaaggt																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:52909866delG	ENST00000391788.2	+	6	734	c.211delG	c.(211-213)gcfs	p.G71fs	ZNF528_ENST00000598192.1_Frame_Shift_Del_p.G81fs|ZNF528_ENST00000594530.1_Frame_Shift_Del_p.G81fs|ZNF528_ENST00000360465.3_Frame_Shift_Del_p.G81fs			Q3MIS6	ZN528_HUMAN	zinc finger protein 528	81	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CGATCCAGACGGCAGGGAGTG	0.493													30	71	---	---	---	---					-	52909866	G	-	52909866	7	5	47	1	0	1	0	1	0	0	0	0	18064	1116	39	0	251	0	ZNF528	19	52909866	Frame_Shift_Del	DEL	G	TCGA-BB-7871-01A-11D-2229-08	2737752	52909866	6219117	449	9327											
VN1R4	317703	broad.mit.edu	37	chr19	53770642	53770642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggtgccaatggacaCtcccctgcccactctatgga	8	8	11	14	0	1	0	0	0	1	0	2	2	2	2	4	4	2	1	4	4	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:53770642C>A	ENST00000311170.4	-	1	330	c.277G>T	c.(277-279)Gtg>Ttg	p.V93L		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	93					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CCAATGGACACTCCCCTGCCC	0.498										HNSCC(26;0.072)			11	19					3.07112e-06	3.40269e-06	1	0	A	53770642	C	A	53770642	3	1	47	1	0	0	0	0	1	0	0	0	17276	565	20	4	631	4	VN1R4	19	53770642	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	860776	53770642	5358341	450	9328											
ZNF765	91661	broad.mit.edu	37	chr19	53905348	53905348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattcagggatgtggccataGaattctctcaggaggagtgg	10	10	14	7	0	3	1	2	0	1	1	4	4	3	4	1	5	0	0	1	5	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:53905348G>A	ENST00000396408.3	+	3	163	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	ZNF765_ENST00000594030.1_Missense_Mutation_p.E16K	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TGTGGCCATAGAATTCTCTCA	0.443													42	120					0	0	0	0	A	53905348	G	A	53905348	3	1	47	1	0	0	0	0	1	0	0	0	18233	943	33	2	52	2	ZNF765	19	53905348	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	134706	53905348	5223635	451	9329											
NLRP12	91662	broad.mit.edu	37	chr19	54314433	54314433	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtgctccttcaccagcagGagccgggtgtaccggtggct	6	8	15	12	2	1	0	1	0	0	0	2	2	2	1	4	4	4	4	4	4	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:54314433G>T	ENST00000324134.6	-	3	648	c.480C>A	c.(478-480)ctC>ctA	p.L160L	NLRP12_ENST00000354278.3_Silent_p.L160L|NLRP12_ENST00000391775.3_Silent_p.L160L|NLRP12_ENST00000535162.1_Silent_p.L160L|NLRP12_ENST00000351894.4_Silent_p.L160L|NLRP12_ENST00000391772.1_Silent_p.L160L|NLRP12_ENST00000391773.1_Silent_p.L160L|NLRP12_ENST00000345770.5_Silent_p.L160L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	160					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCACCAGCAGGAGCCGGGTGT	0.617													39	86					9.14704e-12	1.13838e-11	1	0	T	54314433	G	T	54314433	2	4	47	1	0	0	0	0	0	0	0	1	10544	1161	41	2		2	NLRP12	19	54314433	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	409085	54314433	4814550	452	9330											
VSTM1	284415	broad.mit.edu	37	chr19	54567009	54567009	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactcaccgaggcaaagcAgggagaggaattctgcggtc	12	5	15	9	2	2	2	1	0	1	2	3	6	2	3	1	4	2	2	1	4	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:54567009A>T	ENST00000338372.2	-	1	198	c.23T>A	c.(22-24)cTg>cAg	p.L8Q	VSTM1_ENST00000366170.2_5'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.L8Q|VSTM1_ENST00000425006.2_Missense_Mutation_p.L8Q	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	8						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GAGGCAAAGCAGGGAGAGGAA	0.607													32	168					0	0	0	0	T	54567009	A	T	54567009	3	4	47	1	0	0	0	0	1	0	0	0	17324	188	7	5	723	5	VSTM1	19	54567009	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	252576	54567009	4561974	453	9331											
LILRB3	11025	broad.mit.edu	37	chr19	54725882	54725882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccgggggagctggtgttctCcttccttcatcagaacaaaa	9	11	10	11	1	3	1	2	0	1	1	6	2	5	2	3	3	2	2	3	3	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:54725882C>T	ENST00000391750.1	-	5	612	c.476G>A	c.(475-477)gGa>gAa	p.G159E	LILRB3_ENST00000407860.2_Missense_Mutation_p.G159E|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.G159E|LILRB3_ENST00000346401.6_Missense_Mutation_p.G159E|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000245620.9_Missense_Mutation_p.G159E|LILRA6_ENST00000419410.2_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	159	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGTGTTCTCCTTCCTTCAT	0.627													25	14					0	0	0	0	T	54725882	C	T	54725882	3	4	47	1	0	0	0	0	1	0	0	0	8846	855	30	2	1462	2	LILRB3	19	54725882	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	158873	54725882	4403101	454	9332											
LILRB2	10288	broad.mit.edu	37	chr19	54783338	54783338	+	Frame_Shift_Del	DEL	G	G	-																															gatggcgcgggacgacccacGggcatggggctgggagttca																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:54783338delG	ENST00000391748.1	-	5	647	c.520delC	c.(520-522)gtfs	p.R174fs	LILRB2_ENST00000314446.5_Frame_Shift_Del_p.R174fs|LILRB2_ENST00000434421.1_Frame_Shift_Del_p.R58fs|LILRB2_ENST00000391749.4_Frame_Shift_Del_p.R174fs|LILRB2_ENST00000391746.1_Frame_Shift_Del_p.R174fs	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	174	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACGACCCACGGGCATGGGGC	0.582													36	116	---	---	---	---					-	54783338	G	-	54783338	7	5	47	1	0	1	0	1	0	0	0	0	8845	1116	39	0	1316	0	LILRB2	19	54783338	Frame_Shift_Del	DEL	G	TCGA-BB-7871-01A-11D-2229-08	57456	54783338	4345645	455	9333											
NLRP7	199713	broad.mit.edu	37	chr19	55451293	55451293	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgggccgcgtggtgacCagcaaggctgccctgggtaa	6	6	16	13	2	0	1	0	1	0	0	0	1	0	1	4	4	2	3	4	4	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:55451293C>G	ENST00000588756.1	-	6	1380	c.894G>C	c.(892-894)ctG>ctC	p.L298L	NLRP7_ENST00000590030.1_Silent_p.L298L|NLRP7_ENST00000592784.1_Silent_p.L298L|NLRP7_ENST00000328092.5_Silent_p.L298L|NLRP7_ENST00000340844.2_Silent_p.L298L|NLRP7_ENST00000448121.2_Silent_p.L298L|NLRP7_ENST00000446217.1_Silent_p.L326L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	298	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)		GCGTGGTGACCAGCAAGGCTG	0.637													24	28					0	0	0	0	G	55451293	C	G	55451293	2	3	47	1	0	0	0	0	0	0	0	1	10552	581	21	4		4	NLRP7	19	55451293	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	667955	55451293	3677690	456	9334											
ZNF667	63934	broad.mit.edu	37	chr19	56953709	56953709	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttccatcatgaattctcaTatgtagaataagggttgttc	11	16	7	7	0	2	2	2	1	1	1	5	2	3	2	1	1	0	3	1	1	5	7			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:56953709T>C	ENST00000504904.3	-	7	1374	c.655A>G	c.(655-657)Atg>Gtg	p.M219V	ZNF667_ENST00000292069.6_Missense_Mutation_p.M219V|ZNF667_ENST00000342634.3_Missense_Mutation_p.M347V|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGAATTCTCATATGTAGAATA	0.368													22	56					0	0	0	0	C	56953709	T	C	56953709	3	2	47	1	0	0	0	0	1	0	0	0	18169	1406	49	5	1181	5	ZNF667	19	56953709	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08	1502416	56953709	2175274	457	9335											
ZNF773	374928	broad.mit.edu	37	chr19	58018684	58018684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccttgttaaacatcagagGgttcacactggagcaaagcc	13	8	10	10	0	2	1	2	0	0	1	2	2	2	2	2	2	4	3	2	2	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:58018684G>T	ENST00000282292.4	+	4	1361	c.1221G>T	c.(1219-1221)agG>agT	p.R407S	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.R406S|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		AACATCAGAGGGTTCACACTG	0.418													45	62					8.86878e-18	1.18125e-17	1	0	T	58018684	G	T	58018684	3	4	47	1	0	0	0	0	1	0	0	0	18239	1223	43	4	1235	4	ZNF773	19	58018684	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1064975	58018684	1110299	458	9336											
ZNF135	7694	broad.mit.edu	37	chr19	58578254	58578254	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacactgagggccactgggaAtggagttgtgagagtctaga	11	8	16	6	0	1	3	0	2	1	2	1	7	1	5	1	3	0	1	1	3	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:58578254A>T	ENST00000506786.1	+	5	830	c.276A>T	c.(274-276)gaA>gaT	p.E92D	ZNF135_ENST00000313434.5_Missense_Mutation_p.E134D|ZNF135_ENST00000511556.1_Missense_Mutation_p.E146D|ZNF135_ENST00000401053.4_Missense_Mutation_p.E158D|ZNF135_ENST00000439855.2_Missense_Mutation_p.E134D|ZNF135_ENST00000359978.6_Missense_Mutation_p.E146D			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	146					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GCCACTGGGAATGGAGTTGTG	0.542													14	25					0	0	0	0	T	58578254	A	T	58578254	3	4	47	1	0	0	0	0	1	0	0	0	17820	98	4	5	605	5	ZNF135	19	58578254	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	559570	58578254	550729	459	9337											
MZF1	7593	broad.mit.edu	37	chr19	59081858	59081858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actggagggctccatcttctCtgataggacctcctggccct	6	11	10	14	0	2	1	0	1	2	0	5	3	4	3	4	4	0	1	4	4	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr19:59081858C>T	ENST00000215057.2	-	3	993	c.433G>A	c.(433-435)Gag>Aag	p.E145K	MZF1_ENST00000594234.1_Missense_Mutation_p.E145K|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E145K|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594108.1_Missense_Mutation_p.E145K	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	145					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TCCATCTTCTCTGATAGGACC	0.597													13	15					0	0	0	0	T	59081858	C	T	59081858	3	4	47	1	0	0	0	0	1	0	0	0	10178	922	32	2	1787	2	MZF1	19	59081858	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	503604	59081858	47125	460	9338											
POFUT1	23509	broad.mit.edu	37	chr20	30803173	30803173	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagctggcacccacccaCtggccccctgagaagcgggt	9	4	13	15	1	0	2	0	1	0	2	0	4	0	2	4	3	2	2	4	3	2	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:30803173C>A	ENST00000375749.3	+	3	410	c.348C>A	c.(346-348)caC>caA	p.H116Q	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000375730.3_Missense_Mutation_p.H116Q|POFUT1_ENST00000486717.1_3'UTR	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	116					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CACCCACCCACTGGCCCCCTG	0.587													58	61					1.80625e-27	2.5524e-27	1	0	A	30803173	C	A	30803173	3	1	47	1	0	0	0	0	1	0	0	0	12255	564	20	4	358	4	POFUT1	20	30803173	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08		30803173	32222347	461	9339											
SPAG4	6676	broad.mit.edu	37	chr20	34208679	34208679	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgagaaatcggagattcAgactttccacctgcaggtgt	10	12	11	8	1	1	3	1	1	0	3	3	5	2	3	2	2	1	2	2	2	1	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:34208679A>G	ENST00000374273.3	+	11	1263	c.1151A>G	c.(1150-1152)cAg>cGg	p.Q384R		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	384	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TCGGAGATTCAGACTTTCCAC	0.512													59	44					0	0	0	0	G	34208679	A	G	34208679	3	3	47	1	0	0	0	0	1	0	0	0	15070	188	7	5	1193	5	SPAG4	20	34208679	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	3405506	34208679	28816841	462	9340											
ADA	100	broad.mit.edu	37	chr20	43280234	43280234	+	Frame_Shift_Del	DEL	G	G	-																															actttgggcttgtcgaaggcGggcgtctgggccatggtgcc																										TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:43280234delG	ENST00000372874.4	-	1	149	c.15delC	c.(13-15)ccfs	p.P5fs	ADA_ENST00000537820.1_Frame_Shift_Del_p.P5fs	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	5					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGTCGAAGGCGGGCGTCTGGG	0.791									Adenosine Deaminase Deficiency				2	4	---	---	---	---					-	43280234	G	-	43280234	7	5	47	1	0	1	0	1	0	0	0	0	230	1103	39	0	1124	0	ADA	20	43280234	Frame_Shift_Del	DEL	G	TCGA-BB-7871-01A-11D-2229-08	9071555	43280234	19745286	463	9341											
MATN4	8785	broad.mit.edu	37	chr20	43930020	43930020	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttggcagtgacagaaatagGagcctggggaattgacgcag	12	7	15	7	1	0	3	0	2	0	1	0	5	0	5	1	4	1	2	1	4	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:43930020G>C	ENST00000537548.1	-	5	951	c.707C>G	c.(706-708)tCc>tGc	p.S236C	MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.S277C|MATN4_ENST00000342716.4_Missense_Mutation_p.S236C|MATN4_ENST00000372753.1_Missense_Mutation_p.S87C|MATN4_ENST00000372751.4_Missense_Mutation_p.S87C|MATN4_ENST00000372756.1_Missense_Mutation_p.S236C|MATN4_ENST00000360607.5_Intron			O95460	MATN4_HUMAN	matrilin 4	277	EGF-like 1; incomplete.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACAGAAATAGGAGCCTGGGGA	0.572											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	66					0	0	0	0	C	43930020	G	C	43930020	3	2	47	1	0	0	0	0	1	0	0	0	9405	1174	41	2	1066	2	MATN4	20	43930020	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	649786	43930020	19095500	464	9342											
ZNF334	55713	broad.mit.edu	37	chr20	45130308	45130308	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgatggtgagtcagggctGacttcctgcagtaggttctc	6	13	13	9	0	3	3	1	3	2	0	5	3	4	3	1	3	1	4	1	3	1	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:45130308G>C	ENST00000457685.2	-	6	2879	c.1556C>G	c.(1555-1557)tCa>tGa	p.S519*	ZNF334_ENST00000593880.1_Nonsense_Mutation_p.S580*|ZNF334_ENST00000347606.4_Nonsense_Mutation_p.S557*			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGTCAGGGCTGACTTCCTGCA	0.448													46	89					0	0	0	0	C	45130308	G	C	45130308	4	2	47	1	0	0	0	0	0	1	0	0	17946	1294	45	2	376	2	ZNF334	20	45130308	Nonsense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1200288	45130308	17895212	465	9343											
ZNF831	128611	broad.mit.edu	37	chr20	57766302	57766302	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctccagccccgcgccccGctagtgacgggcagcctaga	6	4	13	18	4	0	2	0	1	0	1	1	2	1	2	7	2	2	2	7	2	2	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:57766302G>T	ENST00000371030.2	+	1	228	c.228G>T	c.(226-228)ccG>ccT	p.P76P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	76	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCGCGCCCCGCTAGTGACGG	0.716													10	9					2.17888e-05	2.3436e-05	1	0	T	57766302	G	T	57766302	2	4	47	1	0	0	0	0	0	0	0	1	18278	1074	38	3		3	ZNF831	20	57766302	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	12635994	57766302	5259218	466	9344											
SLCO4A1	28231	broad.mit.edu	37	chr20	61288358	61288358	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttatgggcacggggtcGctggtgttcgcgctgcccca	3	10	15	13	4	0	0	0	0	0	0	2	0	0	0	2	4	2	5	2	4	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:61288358G>A	ENST00000217159.1	+	2	757	c.552G>A	c.(550-552)tcG>tcA	p.S184S	SLCO4A1_ENST00000370507.1_Silent_p.S184S	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	184					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GCACGGGGTCGCTGGTGTTCG	0.697													41	48					0	0	0	0	A	61288358	G	A	61288358	2	1	47	1	0	0	0	0	0	0	0	1	14817	1074	38	1		1	SLCO4A1	20	61288358	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	3522056	61288358	1737162	467	9345											
MYT1	4661	broad.mit.edu	37	chr20	62838988	62838988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttggatccaaccccatcGgcagcgccactgcctcctcc	7	9	7	18	2	0	0	0	0	0	0	4	1	3	1	7	2	3	1	7	2	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr20:62838988G>T	ENST00000536311.1	+	7	803	c.439G>T	c.(439-441)Ggc>Tgc	p.G147C	MYT1_ENST00000328439.1_Missense_Mutation_p.G147C|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	147					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAACCCCATCGGCAGCGCCAC	0.557													30	158					2.61193e-14	3.33688e-14	1	0	T	62838988	G	T	62838988	3	4	47	1	0	0	0	0	1	0	0	0	10176	1116	39	3	457	3	MYT1	20	62838988	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1550630	62838988	186532	468	9346											
TPTE	7179	broad.mit.edu	37	chr21	10920132	10920132	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcgctgtgggttttatcTgttcgcctttctccaaaata	6	19	7	9	2	2	0	0	0	2	0	5	0	2	0	2	1	0	3	2	1	4	7			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr21:10920132T>A	ENST00000298232.7	-	18	1435	c.1068A>T	c.(1066-1068)acA>acT	p.T356T	TPTE_ENST00000361285.4_Silent_p.T374T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.T336T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	374	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGTTTTATCTGTTCGCCTTT	0.378													8	31					0	0	0	0	A	10920132	T	A	10920132	2	1	47	1	0	0	0	0	0	0	0	1	16525	1567	55	5		5	TPTE	21	10920132	Silent	SNP	T	TCGA-BB-7871-01A-11D-2229-08		10920132	37209763	469	9347											
BAGE2	85319	broad.mit.edu	37	chr21	11097586	11097586	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaacctccagctcaccaCaggggactcctccttcatca	9	8	5	19	0	3	0	3	0	0	0	7	1	7	1	6	2	2	1	6	2	1	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr21:11097586C>A	ENST00000470054.1	-	0	283									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		cagctcaccacaggggactcc	0.532													5	67					0.00116845	0.00120106	1	0	A	11097586	C	A	11097586	1	1	47	0	1	0	0	0	0	0	0	0	1296	478	17	4		4	BAGE2	21	11097586	RNA	SNP	C	TCGA-BB-7871-01A-11D-2229-08	177454	11097586	37032309	470	9348											
SLC37A1	54020	broad.mit.edu	37	chr21	43974185	43974185	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccagcactcaaaaggctAtgagaatggtacaaacagat	17	8	8	8	0	1	2	1	1	0	2	1	3	1	2	1	2	4	3	1	2	7	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr21:43974185A>T	ENST00000352133.2	+	10	1764	c.782A>T	c.(781-783)tAt>tTt	p.Y261F	SLC37A1_ENST00000398341.3_Missense_Mutation_p.Y261F			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	261					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TCAAAAGGCTATGAGAATGGT	0.383													5	7					0	0	0	0	T	43974185	A	T	43974185	3	4	47	1	0	0	0	0	1	0	0	0	14685	449	16	5	816	5	SLC37A1	21	43974185	Missense_Mutation	SNP	A	TCGA-BB-7871-01A-11D-2229-08	32876599	43974185	4155710	471	9349											
ITGB2	3689	broad.mit.edu	37	chr21	46308803	46308803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaacttcaggcactcggCgcaggagctgcggggagcca	8	6	15	12	4	1	0	1	0	0	0	3	3	1	2	1	5	4	3	1	5	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr21:46308803C>T	ENST00000397850.2	-	15	2337	c.1885G>A	c.(1885-1887)Gcc>Acc	p.A629T	ITGB2_ENST00000355153.4_Missense_Mutation_p.A629T|ITGB2_ENST00000397857.1_Missense_Mutation_p.A629T|ITGB2_ENST00000397854.3_Missense_Mutation_p.A572T|ITGB2_ENST00000302347.5_Missense_Mutation_p.A629T|ITGB2_ENST00000397852.1_Missense_Mutation_p.A629T			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	629					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGGCACTCGGCGCAGGAGCTG	0.692													11	18					0	0	0	0	T	46308803	C	T	46308803	3	4	47	1	0	0	0	0	1	0	0	0	7947	768	27	1	436	1	ITGB2	21	46308803	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	2334618	46308803	1821092	472	9350											
UPB1	51733	broad.mit.edu	37	chr22	24891384	24891384	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgtggccatggcgggcgctGagtggaagtcgctggaggaa	7	6	19	9	4	0	1	0	1	0	0	1	4	0	4	2	6	0	2	2	6	2	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:24891384G>C	ENST00000326010.5	+	1	357	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	UPB1_ENST00000413389.2_5'UTR|UPB1_ENST00000382760.2_Missense_Mutation_p.E5Q	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	5					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GGCGGGCGCTGAGTGGAAGTC	0.662													9	129					0	0	0	0	C	24891384	G	C	24891384	3	2	47	1	0	0	0	0	1	0	0	0	17098	1291	45	2	15	2	UPB1	22	24891384	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08		24891384	26413182	473	9351											
MB	4151	broad.mit.edu	37	chr22	36006993	36006993	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgccaggggcttaatctCtgcctcatgatgccccttct	5	13	9	14	0	3	1	1	1	2	0	4	1	3	1	4	2	3	1	4	2	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:36006993C>G	ENST00000397326.2	-	2	454	c.256G>C	c.(256-258)Gag>Cag	p.E86Q	MB_ENST00000401702.1_Missense_Mutation_p.E31Q|MB_ENST00000406324.1_Missense_Mutation_p.E86Q|MB_ENST00000397328.1_Missense_Mutation_p.E86Q|MB_ENST00000359787.1_Missense_Mutation_p.E86Q	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	86							heme binding|oxygen transporter activity			lung(1)	1						GGCTTAATCTCTGCCTCATGA	0.587													10	44					0	0	0	0	G	36006993	C	G	36006993	3	3	47	1	0	0	0	0	1	0	0	0	9410	922	32	2	216	2	MB	22	36006993	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	11115609	36006993	15297573	474	9352											
PRR5	55615	broad.mit.edu	37	chr22	45122513	45122513	+	Splice_Site	DEL	G	G	-																															gacaagattcgcttctatgaGggtgagtgtgggccccttgg																								rs28450358		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:45122513delG	ENST00000403581.1	+	6	999	c.391_splice	c.e6+1	p.E130_splice	PRR5_ENST00000336985.6_Splice_Site_p.E107_splice|ARHGAP8_ENST00000517296.3_Splice_Site_p.E107_splice|PRR5-ARHGAP8_ENST00000352766.7_Splice_Site_p.E107_splice|PRR5-ARHGAP8_ENST00000361473.5_Splice_Site_p.E108_splice|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Splice_Site_p.E99_splice	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GCTTCTATGAGGGTGAGTGTG	0.622													22	49	---	---	---	---					-	45122513	G	-	45122513	8	5	47	1	0	1	0	1	0	0	1	0	12679	1014	35	0	335	0	PRR5	22	45122513	Splice_Site	DEL	G	TCGA-BB-7871-01A-11D-2229-08	9115520	45122513	6182053	475	9353											
NCAPH2	29781	broad.mit.edu	37	chr22	50960669	50960669	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaaactctccggaagctgCagaggagggaggcaagtccc	11	5	15	10	1	1	1	0	0	1	1	3	5	2	5	2	5	3	3	2	5	3	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50960669C>T	ENST00000395701.3	+	14	1316	c.1222C>T	c.(1222-1224)Cag>Tag	p.Q408*	NCAPH2_ENST00000420993.2_Nonsense_Mutation_p.Q408*|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000299821.11_Nonsense_Mutation_p.Q408*			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	408					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CCGGAAGCTGCAGAGGAGGGA	0.592													23	36					0	0	0	0	T	50960669	C	T	50960669	4	4	47	1	0	0	0	0	0	1	0	0	10280	711	25	4	1315	4	NCAPH2	22	50960669	Nonsense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	5838156	50960669	343897	476	9354			2	14		8	8	7058	C		4.538042e-11
NCAPH2	29781	broad.mit.edu	37	chr22	50961103	50961103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctaccccttcccagacgCagtgccgatgtccctgagct	7	8	9	17	2	0	2	0	1	0	1	2	3	2	2	5	0	4	3	5	0	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50961103C>T	ENST00000395701.3	+	17	1473	c.1379C>T	c.(1378-1380)gCa>gTa	p.A460V	NCAPH2_ENST00000420993.2_Missense_Mutation_p.A460V|NCAPH2_ENST00000299821.11_Missense_Mutation_p.A461V			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	460					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TTCCCAGACGCAGTGCCGATG	0.672													13	36					0	0	0	0	T	50961103	C	T	50961103	3	4	47	1	0	0	0	0	1	0	0	0	10280	710	25	4	1487	4	NCAPH2	22	50961103	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	434	50961103	343463	477	9355			2	14		8	8	7058	C		4.538042e-11
NCAPH2	29781	broad.mit.edu	37	chr22	50961569	50961569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggccttcgaggtgtgtCgttccatgctggcctccctg	3	11	13	14	3	0	0	0	0	0	0	4	1	2	0	5	3	2	2	5	3	0	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50961569C>A	ENST00000395701.3	+	19	1745	c.1651C>A	c.(1651-1653)Cgt>Agt	p.R551S	NCAPH2_ENST00000420993.2_Missense_Mutation_p.R551S|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R552S			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	551					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CGAGGTGTGTCGTTCCATGCT	0.647													5	24					1.23904e-05	1.34194e-05	1	0	A	50961569	C	A	50961569	3	1	47	1	0	0	0	0	1	0	0	0	10280	884	31	3	1767	3	NCAPH2	22	50961569	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	466	50961569	342997	478	9356			2	14		8	8	7058	C		4.538042e-11
NCAPH2	29781	broad.mit.edu	37	chr22	50961585	50961585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgtcgttccatgctggcctCcctgcagctggtgagtagcc	4	11	13	13	1	0	1	0	1	0	0	3	1	2	1	4	2	4	5	4	2	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50961585C>T	ENST00000395701.3	+	19	1761	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	NCAPH2_ENST00000420993.2_Missense_Mutation_p.S556F|NCAPH2_ENST00000299821.11_Missense_Mutation_p.S557F			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	556					chromosome condensation	chromosome|nucleus		p.S556F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		ATGCTGGCCTCCCTGCAGCTG	0.637													5	26					0	0	0	0	T	50961585	C	T	50961585	3	4	47	1	0	0	0	0	1	0	0	0	10280	855	30	2	1783	2	NCAPH2	22	50961585	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	16	50961585	342981	479	9357			2	14		8	8	7058	C		4.538042e-11
SCO2	9997	broad.mit.edu	37	chr22	50962141	50962141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaatccgtgaagaggccgtCagggttgagcaggtagatgg	10	8	17	6	2	1	4	1	2	0	2	2	4	2	4	2	4	1	4	2	4	3	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50962141C>T	ENST00000543927.1	-	2	906	c.700G>A	c.(700-702)Gac>Aac	p.D234N	SCO2_ENST00000395693.3_Missense_Mutation_p.D234N|SCO2_ENST00000535425.1_Missense_Mutation_p.D234N|SCO2_ENST00000252785.3_Missense_Mutation_p.D234N	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	234	Thioredoxin.				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGAGGCCGTCAGGGTTGAGC	0.582													36	117					0	0	0	0	T	50962141	C	T	50962141	3	4	47	1	0	0	0	0	1	0	0	0	14019	826	29	2	104	2	SCO2	22	50962141	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	556	50962141	342425	480	9358			2	14		8	8	7058	C		4.538042e-11
SCO2	9997	broad.mit.edu	37	chr22	50962592	50962592	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcttttgctgctgcagcctCtccttctcagccctcagggc	3	12	9	17	1	3	0	2	0	2	0	5	0	3	0	3	1	5	4	3	1	0	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50962592C>G	ENST00000543927.1	-	2	455	c.249G>C	c.(247-249)gaG>gaC	p.E83D	SCO2_ENST00000395693.3_Missense_Mutation_p.E83D|SCO2_ENST00000535425.1_Missense_Mutation_p.E83D|SCO2_ENST00000252785.3_Missense_Mutation_p.E83D	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	83					cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCTGCAGCCTCTCCTTCTCAG	0.687													18	65					0	0	0	0	G	50962592	C	G	50962592	3	3	47	1	0	0	0	0	1	0	0	0	14019	912	32	2	555	2	SCO2	22	50962592	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	451	50962592	341974	481	9359			2	14		8	8	7058	C		4.538042e-11
SCO2	9997	broad.mit.edu	37	chr22	50962711	50962711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctgcccacctgtctctgCagggccctgccttgacaaaa	7	8	9	17	0	1	1	0	1	1	0	2	1	1	1	5	1	3	1	5	1	2	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50962711C>T	ENST00000543927.1	-	2	336	c.130G>A	c.(130-132)Gca>Aca	p.A44T	SCO2_ENST00000395693.3_Missense_Mutation_p.A44T|SCO2_ENST00000535425.1_Missense_Mutation_p.A44T|SCO2_ENST00000252785.3_Missense_Mutation_p.A44T	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	44					cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTGTCTCTGCAGGGCCCTGC	0.687													24	56					0	0	0	0	T	50962711	C	T	50962711	3	4	47	1	0	0	0	0	1	0	0	0	14019	710	25	4	674	4	SCO2	22	50962711	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	119	50962711	341855	482	9360			2	14		8	8	7058	C		4.538042e-11
TYMP	1890	broad.mit.edu	37	chr22	50967726	50967726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtcagcaccgaggtctcctCcagatccatgccccgaagtc	8	7	10	16	2	2	1	1	0	1	1	6	3	4	1	6	2	2	1	6	2	1	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chr22:50967726C>G	ENST00000252029.3	-	3	418	c.256G>C	c.(256-258)Gag>Cag	p.E86Q	TYMP_ENST00000395678.3_Missense_Mutation_p.E86Q|TYMP_ENST00000395680.1_Missense_Mutation_p.E86Q|TYMP_ENST00000395681.1_Missense_Mutation_p.E86Q	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	86					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GAGGTCTCCTCCAGATCCATG	0.677													11	23					0	0	0	0	G	50967726	C	G	50967726	3	3	47	1	0	0	0	0	1	0	0	0	16907	864	30	2	1224	2	TYMP	22	50967726	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	5015	50967726	336840	483	9361			2	14		8	8	7058	C		4.538042e-11
FRMPD4	9758	broad.mit.edu	37	chrX	12736225	12736225	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaggacagtcaaagatggTatgtggccactgaaggtggg	12	7	16	6	0	1	2	1	1	0	1	1	3	1	3	1	5	0	2	1	5	4	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:12736225T>C	ENST00000380682.1	+	16	3786	c.3280T>C	c.(3280-3282)Tat>Cat	p.Y1094H		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1094					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAAAGATGGTATGTGGCCAC	0.493													56	87					0	0	0	0	C	12736225	T	C	12736225	3	2	47	1	0	0	0	0	1	0	0	0	6107	1638	57	5	3342	5	FRMPD4	23	12736225	Missense_Mutation	SNP	T	TCGA-BB-7871-01A-11D-2229-08		12736225	142534335	484	9362											
RBBP7	5931	broad.mit.edu	37	chrX	16881168	16881168	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccagatgattctgctcatCagacgtatgagtccccagca	11	9	8	13	1	3	4	2	2	1	2	4	4	4	4	3	0	2	3	3	0	1	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:16881168C>G	ENST00000380087.2	-	3	577	c.217G>C	c.(217-219)Gat>Cat	p.D73H	RBBP7_ENST00000404022.1_Missense_Mutation_p.D73H|RBBP7_ENST00000380084.4_Missense_Mutation_p.D117H			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	73					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TTCTGCTCATCAGACGTATGA	0.418													21	39					0	0	0	0	G	16881168	C	G	16881168	3	3	47	1	0	0	0	0	1	0	0	0	13186	826	29	2	1100	2	RBBP7	23	16881168	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	4144943	16881168	138389392	485	9363											
PHEX	5251	broad.mit.edu	37	chrX	22132680	22132680	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatgtttgtagatgtgtaCttccaggaagataagaagga	15	11	12	3	0	0	4	0	0	0	4	1	6	1	6	1	2	1	3	1	2	6	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:22132680C>G	ENST00000379374.4	+	11	1843	c.1278C>G	c.(1276-1278)taC>taG	p.Y426*	PHEX_ENST00000418858.3_Nonsense_Mutation_p.Y129*|PHEX_ENST00000537599.1_Nonsense_Mutation_p.Y426*|PHEX_ENST00000535894.1_Nonsense_Mutation_p.Y329*	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	426					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TAGATGTGTACTTCCAGGAAG	0.413													29	36					0	0	0	0	G	22132680	C	G	22132680	4	3	47	1	0	0	0	0	0	1	0	0	11891	576	20	4	1320	4	PHEX	23	22132680	Nonsense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	5251512	22132680	133137880	486	9364											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29414383	29414383	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgttacagaaactccaCttactgtatgaaagtatcca	13	13	6	9	0	0	2	0	1	0	1	2	2	2	2	2	0	3	4	2	0	6	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:29414383C>A	ENST00000378993.1	+	4	1044	c.371C>A	c.(370-372)aCt>aAt	p.T124N	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.T124N	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	124	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGAAACTCCACTTACTGTATG	0.373													13	18					0.00185496	0.0019005	1	0	A	29414383	C	A	29414383	3	1	47	1	0	0	0	0	1	0	0	0	7714	565	20	4	381	4	IL1RAPL1	23	29414383	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	7281703	29414383	125856177	487	9365											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29973758	29973758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtacctcctaccggcaccCtgcctcttacctccataggc	7	9	6	19	2	1	0	0	0	1	0	3	0	3	0	7	2	4	2	7	2	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:29973758C>A	ENST00000378993.1	+	11	2585	c.1912C>A	c.(1912-1914)Ctg>Atg	p.L638M	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L638M	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	638	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.L638L(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TACCGGCACCCTGCCTCTTAC	0.502													6	18					0.248553	0.24895	1	0	A	29973758	C	A	29973758	3	1	47	1	0	0	0	0	1	0	0	0	7714	680	24	4	1950	4	IL1RAPL1	23	29973758	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	559375	29973758	125296802	488	9366											
HEPH	9843	broad.mit.edu	37	chrX	65417622	65417622	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccactgctcaggatcctgcTtgtctcacttggatgtactt	6	14	8	13	0	2	0	2	0	1	0	4	2	3	2	2	2	3	3	2	2	1	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:65417622T>A	ENST00000519389.1	+	10	1940	c.1761T>A	c.(1759-1761)gcT>gcA	p.A587A	HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Silent_p.A536A|HEPH_ENST00000336279.5_Silent_p.A266A|HEPH_ENST00000374727.3_Silent_p.A536A|HEPH_ENST00000343002.2_Silent_p.A533A			Q9BQS7	HEPH_HUMAN	hephaestin	533	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATCCTGCTTGTCTCACTT	0.572													10	56					0	0	0	0	A	65417622	T	A	65417622	2	1	47	1	0	0	0	0	0	0	0	1	7104	1596	56	5		5	HEPH	23	65417622	Silent	SNP	T	TCGA-BB-7871-01A-11D-2229-08	35443864	65417622	89852938	489	9367											
EFNB1	1947	broad.mit.edu	37	chrX	68058522	68058523	+	Frame_Shift_Ins	INS	-	-	C																															gacaagctggacatcatctgINScccccgagcagaagcagggc																								rs148907346		TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:68058522_68058523insC	ENST00000204961.4	+	2	971_972	c.191_192insC	c.(190-192)tccfs	p.S64fs		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	64					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GACATCATCTGCCCCCGAGCAG	0.574													13	52	---	---	---	---					C	68058523	-	C	68058522	7	5	47	1	0	1	1	0	0	0	0	0	4991	1319	46	0	197	0	EFNB1	23	68058522	Frame_Shift_Ins	INS	-	TCGA-BB-7871-01A-11D-2229-08	2640900	68058522	87212038	490	9368											
MED12	9968	broad.mit.edu	37	chrX	70342150	70342150	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccacttgcctattgcccCgtccaacctgcccatgccag	7	9	7	18	1	0	1	0	1	0	0	1	1	1	1	8	0	5	0	8	0	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:70342150C>G	ENST00000333646.6	+	8	1401	c.1202C>G	c.(1201-1203)cCg>cGg	p.P401R	MED12_ENST00000374102.1_Missense_Mutation_p.P401R|MED12_ENST00000374080.3_Missense_Mutation_p.P401R	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	401					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCTATTGCCCCGTCCAACCTG	0.522			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						84	87					0	0	0	0	G	70342150	C	G	70342150	3	3	47	1	0	0	0	0	1	0	0	0	9497	652	23	3	1232	3	MED12	23	70342150	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	2283628	70342150	84928410	491	9369											
MED12	9968	broad.mit.edu	37	chrX	70357671	70357671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactccagccagccttaccaGagcacccacccttctaccaa	11	7	4	19	0	1	1	0	0	1	1	2	1	2	1	7	0	6	1	7	0	4	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:70357671G>T	ENST00000333646.6	+	41	6130	c.5931G>T	c.(5929-5931)caG>caT	p.Q1977H	MED12_ENST00000374102.1_Missense_Mutation_p.Q1973H|MED12_ENST00000374080.3_Missense_Mutation_p.Q1974H|MED12_ENST00000478889.1_3'UTR	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1974	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGCCTTACCAGAGCACCCACC	0.582			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						52	70					9.55421e-19	1.28899e-18	1	0	T	70357671	G	T	70357671	3	4	47	1	0	0	0	0	1	0	0	0	9497	933	33	2	6084	2	MED12	23	70357671	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	15521	70357671	84912889	492	9370											
PHKA1	5255	broad.mit.edu	37	chrX	71855025	71855025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagcatgctgtgtgagatgGggaaggtgatggtgggctgg	8	9	20	4	0	0	2	0	2	0	1	0	4	0	3	0	6	2	3	0	6	2	0			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:71855025G>T	ENST00000373545.3	-	16	2132	c.1694C>A	c.(1693-1695)cCc>cAc	p.P565H	PHKA1_ENST00000373539.3_Missense_Mutation_p.P565H|PHKA1_ENST00000339490.3_Missense_Mutation_p.P565H|PHKA1_ENST00000541944.1_Missense_Mutation_p.P565H|PHKA1_ENST00000373542.4_Missense_Mutation_p.P565H			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	565					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTGTGAGATGGGGAAGGTGAT	0.483													16	87					1.67942e-08	1.93969e-08	1	0	T	71855025	G	T	71855025	3	4	47	1	0	0	0	0	1	0	0	0	11915	1232	43	4	2045	4	PHKA1	23	71855025	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1497354	71855025	83415535	493	9371											
RLIM	51132	broad.mit.edu	37	chrX	73811417	73811417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgaagtttgttgccttctGtatattctgtaatgcaaaca	11	16	7	7	1	2	0	0	0	2	0	2	1	2	0	1	0	4	5	1	0	6	8			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:73811417G>A	ENST00000332687.6	-	4	1951	c.1733C>T	c.(1732-1734)aCa>aTa	p.T578I	RLIM_ENST00000349225.2_Missense_Mutation_p.T578I	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	578					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTTGCCTTCTGTATATTCTGT	0.408													12	69					0	0	0	0	A	73811417	G	A	73811417	3	1	47	1	0	0	0	0	1	0	0	0	13475	1377	48	4	145	4	RLIM	23	73811417	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	1956392	73811417	81459143	494	9372											
ATRX	546	broad.mit.edu	37	chrX	76778862	76778862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttatgtatctgaaggagCtctgcaagtatggtatcctg	9	15	10	7	0	3	1	0	1	3	0	4	2	4	2	1	2	2	5	1	2	6	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:76778862C>A	ENST00000373344.5	-	31	6931	c.6717G>T	c.(6715-6717)gaG>gaT	p.E2239D	ATRX_ENST00000395603.3_Missense_Mutation_p.E2201D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2239					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCTGAAGGAGCTCTGCAAGTA	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						20	108					1.56452e-12	1.97458e-12	1	0	A	76778862	C	A	76778862	3	1	47	1	0	0	0	0	1	0	0	0	1212	796	28	4	781	4	ATRX	23	76778862	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	2967445	76778862	78491698	495	9373											
FAM46D	169966	broad.mit.edu	37	chrX	79698890	79698890	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagaaaattgaatcatacctCcacaaccatttcataggtga	17	10	5	9	0	2	3	2	2	0	1	3	3	3	3	3	1	2	0	3	1	7	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:79698890C>T	ENST00000538312.1	+	5	1186	c.852C>T	c.(850-852)ctC>ctT	p.L284L	FAM46D_ENST00000308293.5_Silent_p.L284L	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	284										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AATCATACCTCCACAACCATT	0.353													18	53					0	0	0	0	T	79698890	C	T	79698890	2	4	47	1	0	0	0	0	0	0	0	1	5615	842	30	2		2	FAM46D	23	79698890	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	2920028	79698890	75571670	496	9374											
BRWD3	254065	broad.mit.edu	37	chrX	79990691	79990691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagtaaatttcaccgggCgatctctaaagataaaaata	16	11	6	8	2	3	1	2	0	2	1	5	2	3	1	1	1	0	1	1	1	8	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:79990691C>G	ENST00000373275.4	-	10	1136	c.920G>C	c.(919-921)cGc>cCc	p.R307P		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	307										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTTCACCGGGCGATCTCTAAA	0.388													13	23					0	0	0	0	G	79990691	C	G	79990691	3	3	47	1	0	0	0	0	1	0	0	0	1534	768	27	3	4616	3	BRWD3	23	79990691	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	291801	79990691	75279869	497	9375											
BRWD3	254065	broad.mit.edu	37	chrX	79999663	79999663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatagttaacagccatGtcagaaatttcagcagagtg	13	13	8	7	0	3	2	3	0	0	2	3	2	3	2	1	0	3	2	1	0	3	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:79999663G>T	ENST00000373275.4	-	8	897	c.681C>A	c.(679-681)gaC>gaA	p.D227E		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	227										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TAACAGCCATGTCAGAAATTT	0.433													31	92					5.90632e-09	6.89806e-09	1	0	T	79999663	G	T	79999663	3	4	47	1	0	0	0	0	1	0	0	0	1534	1368	48	4	4863	4	BRWD3	23	79999663	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	8972	79999663	75270897	498	9376											
PCDH11X	27328	broad.mit.edu	37	chrX	91132397	91132397	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgctctcataactgtgacGgataaggatgcggaccataa	13	10	10	8	2	1	1	1	1	1	0	2	4	1	4	1	3	3	1	1	3	3	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:91132397G>C	ENST00000373094.1	+	2	2003	c.1158G>C	c.(1156-1158)acG>acC	p.T386T	PCDH11X_ENST00000373097.1_Silent_p.T386T|PCDH11X_ENST00000361724.1_Silent_p.T386T|PCDH11X_ENST00000361655.2_Silent_p.T386T|PCDH11X_ENST00000298274.8_Silent_p.T386T|PCDH11X_ENST00000373088.1_Silent_p.T386T|PCDH11X_ENST00000504220.1_Silent_p.T386T|PCDH11X_ENST00000395337.2_Silent_p.T386T|PCDH11X_ENST00000406881.1_Silent_p.T386T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	386	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TAACTGTGACGGATAAGGATG	0.413													18	34					0	0	0	0	C	91132397	G	C	91132397	2	2	47	1	0	0	0	0	0	0	0	1	11579	1103	39	3		3	PCDH11X	23	91132397	Silent	SNP	G	TCGA-BB-7871-01A-11D-2229-08	11132734	91132397	64138163	499	9377											
ARMCX5	64860	broad.mit.edu	37	chrX	101858708	101858708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcacagtgatcccgaaGtgagagataaagtcatacga	16	6	11	8	2	1	4	1	2	0	2	2	7	2	4	1	0	2	1	1	0	4	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:101858708G>T	ENST00000604957.1	+	1	4261	c.1639G>T	c.(1639-1641)Gtg>Ttg	p.V547L	ARMCX5_ENST00000246174.2_Missense_Mutation_p.V547L|ARMCX5_ENST00000541409.1_Missense_Mutation_p.V547L|ARMCX5_ENST00000372742.1_Missense_Mutation_p.V547L|ARMCX5_ENST00000536530.1_Missense_Mutation_p.V547L|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.V547L|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	547							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TGATCCCGAAGTGAGAGATAA	0.378													45	52					2.68985e-26	3.76699e-26	1	0	T	101858708	G	T	101858708	3	4	47	1	0	0	0	0	1	0	0	0	966	1029	36	4	1641	4	ARMCX5	23	101858708	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	10726311	101858708	53411852	500	9378											
CXorf56	63932	broad.mit.edu	37	chrX	118675341	118675341	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgcgctccagctgtttttCaatcactttggcattctgtg	5	18	8	10	1	3	0	2	0	1	0	4	0	4	0	1	1	2	4	1	1	1	5			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:118675341C>G	ENST00000320339.4	-	6	680	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	CXorf56_ENST00000476164.1_Missense_Mutation_p.E186Q|CXorf56_ENST00000536133.1_Missense_Mutation_p.E172Q|CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000486230.1_Missense_Mutation_p.E186Q|CXorf56_ENST00000371594.4_Missense_Mutation_p.E186Q	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	186							protein binding			cervix(1)|endometrium(2)|lung(7)	10						AGCTGTTTTTCAATCACTTTG	0.483													35	73					0	0	0	0	G	118675341	C	G	118675341	3	3	47	1	0	0	0	0	1	0	0	0	4144	835	29	2	120	2	CXorf56	23	118675341	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	16816633	118675341	36595219	501	9379											
GPC4	2239	broad.mit.edu	37	chrX	132436980	132436980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggacggacaccagcaCtgtcggctttctcattggca	8	8	10	15	2	1	0	1	0	1	0	3	2	1	2	3	4	1	3	3	4	0	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:132436980C>A	ENST00000370828.3	-	9	2110	c.1586G>T	c.(1585-1587)aGt>aTt	p.S529I	GPC4_ENST00000535467.1_Missense_Mutation_p.S459I	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	529					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GACACCAGCACTGTCGGCTTT	0.517													116	165					9.44819e-66	1.37548e-65	1	0	A	132436980	C	A	132436980	3	1	47	1	0	0	0	0	1	0	0	0	6649	565	20	4	88	4	GPC4	23	132436980	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	13761639	132436980	22833580	502	9380											
MCF2	4168	broad.mit.edu	37	chrX	138714492	138714492	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttaaataatatactcttActggtaatttaagcataaaa	18	15	3	5	0	1	0	0	0	1	0	1	0	1	0	0	1	3	2	0	1	10	10			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:138714492A>T	ENST00000520602.1	-	5	637		c.e5+1		MCF2_ENST00000414978.1_Splice_Site|MCF2_ENST00000519895.1_Splice_Site|MCF2_ENST00000370573.4_Splice_Site|MCF2_ENST00000370576.4_Splice_Site|MCF2_ENST00000536274.1_Splice_Site|MCF2_ENST00000338585.6_Splice_Site|MCF2_ENST00000370578.4_Splice_Site			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ATATACTCTTACTGGTAATTT	0.338													18	19					0	0	0	0	T	138714492	A	T	138714492	5	4	47	1	0	0	0	0	0	0	1	0	9447	405	14	5	2780	5	MCF2	23	138714492	Splice_Site	SNP	A	TCGA-BB-7871-01A-11D-2229-08	6277512	138714492	16556068	503	9381											
MAGEC3	139081	broad.mit.edu	37	chrX	140984630	140984630	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatcctcacccttgtcCtcacccttaccctctactct	5	14	1	21	0	5	0	3	0	2	0	8	0	8	0	6	0	2	0	6	0	2	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:140984630C>T	ENST00000544766.1	+	5	719	c.192C>T	c.(190-192)tcC>tcT	p.S64S	MAGEC3_ENST00000536088.1_Silent_p.S64S|MAGEC3_ENST00000409007.1_Silent_p.S64S|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000298296.1_Intron	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	593										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					cACCCTTGTCCTCACCCTTAC	0.532													8	12					0	0	0	0	T	140984630	C	T	140984630	2	4	47	1	0	0	0	0	0	0	0	1	9251	668	24	4		4	MAGEC3	23	140984630	Silent	SNP	C	TCGA-BB-7871-01A-11D-2229-08	2270138	140984630	14285930	504	9382											
MAGEC1	9947	broad.mit.edu	37	chrX	140994994	140994994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcctcagagccctcctcagGgggaggactccatgtctcct	6	10	10	15	0	3	1	2	0	1	1	7	3	6	3	5	3	1	0	5	3	0	1			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:140994994G>A	ENST00000285879.4	+	4	2090	c.1804G>A	c.(1804-1806)Ggg>Agg	p.G602R	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	602							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCCTCAGGGGGAGGACTC	0.582										HNSCC(15;0.026)			132	192					0	0	0	0	A	140994994	G	A	140994994	3	1	47	1	0	0	0	0	1	0	0	0	9249	1232	43	4	1810	4	MAGEC1	23	140994994	Missense_Mutation	SNP	G	TCGA-BB-7871-01A-11D-2229-08	10364	140994994	14275566	505	9383											
MAGEC1	9947	broad.mit.edu	37	chrX	140995039	140995039	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttcctcagagtcctcttCagggggaggaattccagtct	8	12	10	11	0	4	1	2	0	2	1	7	3	7	3	3	3	0	0	3	3	1	3			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:140995039C>G	ENST00000285879.4	+	4	2135	c.1849C>G	c.(1849-1851)Cag>Gag	p.Q617E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	617							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCCTCTTCAGGGGGAGGA	0.572										HNSCC(15;0.026)			116	188					0	0	0	0	G	140995039	C	G	140995039	3	3	47	1	0	0	0	0	1	0	0	0	9249	827	29	2	1855	2	MAGEC1	23	140995039	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	45	140995039	14275521	506	9384											
SLITRK2	84631	broad.mit.edu	37	chrX	144905688	144905688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatctgtccagacagccCaaacttgtcagatggaaccg	11	8	10	12	1	2	2	1	0	1	2	3	3	3	3	3	2	3	1	3	2	3	2			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:144905688C>G	ENST00000370490.1	+	1	6000	c.1745C>G	c.(1744-1746)cCa>cGa	p.P582R	SLITRK2_ENST00000434188.2_Missense_Mutation_p.P582R|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P582R|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P582R|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P582R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	582						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGACAGCCCAAACTTGTCA	0.473													16	28					0	0	0	0	G	144905688	C	G	144905688	3	3	47	1	0	0	0	0	1	0	0	0	14831	594	21	4	1747	4	SLITRK2	23	144905688	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	3910649	144905688	10364872	507	9385											
F8	2157	broad.mit.edu	37	chrX	154225261	154225261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tactcaccctcagaagctttCcagtaggatacaccaacagc	13	8	6	14	0	2	1	2	0	0	1	3	2	3	2	3	1	5	2	3	1	5	4			TCGA-BB-7871-01A-11D-2229-08	TCGA-BB-7871-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e13f8a5-5d80-4e34-bffa-54ae808114e7	28a3eef0-d823-4a45-a686-4f8abb8e2647	g.chrX:154225261C>G	ENST00000360256.4	-	3	575	c.375G>C	c.(373-375)tgG>tgC	p.W125C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	125	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CAGAAGCTTTCCAGTAGGATA	0.438													61	101					0	0	0	0	G	154225261	C	G	154225261	3	3	47	1	0	0	0	0	1	0	0	0	5388	856	30	2	6804	2	F8	23	154225261	Missense_Mutation	SNP	C	TCGA-BB-7871-01A-11D-2229-08	9319573	154225261	1045299	508	9386											
CROCC	9696	broad.mit.edu	37	chr1	17277466	17277466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggagttggcgggcctgcGgcagcaaataatagctacac	11	6	15	9	2	0	0	0	0	0	0	0	1	0	1	1	5	4	4	1	5	4	4			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:17277466G>A	ENST00000375541.5	+	20	2924	c.2855G>A	c.(2854-2856)cGg>cAg	p.R952Q	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	952					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCGGGCCTGCGGCAGCAAATA	0.602													3	37					0	0	0	0	A	17277466	G	A	17277466	3	1	48	1	0	0	0	0	1	0	0	0	3923	1116	39	1	2933	1	CROCC	1	17277466	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08		17277466	231973155	1	9387											
UBR4	23352	broad.mit.edu	37	chr1	19439351	19439351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaactctttgcgcgaaGcaaagactttctaagaacaa	16	8	6	11	2	2	2	0	0	2	2	2	3	2	2	1	0	5	1	1	0	7	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:19439351G>T	ENST00000375267.2	-	78	11471	c.11468C>A	c.(11467-11469)gCt>gAt	p.A3823D	UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.A3816D|UBR4_ENST00000375254.3_Missense_Mutation_p.A3823D|UBR4_ENST00000375226.2_Missense_Mutation_p.A3799D			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3823					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTTGCGCGAAGCAAAGACTTT	0.403													43	142					5.44703e-19	6.28503e-19	1	0	T	19439351	G	T	19439351	3	4	48	1	0	0	0	0	1	0	0	0	17000	971	34	4	4199	4	UBR4	1	19439351	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	2161885	19439351	229811270	2	9388											
AGL	178	broad.mit.edu	37	chr1	100349945	100349945	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttgccacaaaagggccCaatgaatatattcaagaaat	17	8	9	7	0	1	2	1	1	0	1	1	3	1	3	2	2	1	1	2	2	8	4			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:100349945C>T	ENST00000294724.4	+	19	2962	c.2484C>T	c.(2482-2484)ccC>ccT	p.P828P	AGL_ENST00000361915.3_Silent_p.P828P|AGL_ENST00000370163.3_Silent_p.P828P|AGL_ENST00000361522.4_Silent_p.P811P|AGL_ENST00000361302.3_Silent_p.P812P|AGL_ENST00000370165.3_Silent_p.P828P|AGL_ENST00000370161.2_Silent_p.P812P	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	828					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CAAAAGGGCCCAATGAATATA	0.289													7	31					0	0	0	0	T	100349945	C	T	100349945	2	4	48	1	0	0	0	0	0	0	0	1	384	581	21	4		4	AGL	1	100349945	Silent	SNP	C	TCGA-BB-7872-01A-11D-2229-08	80910594	100349945	148900676	3	9389											
ANXA9	8416	broad.mit.edu	37	chr1	150960623	150960623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaggctgtccagaacCgtttccatggagatgctcag	9	9	14	9	1	1	2	1	0	0	2	3	5	3	4	3	4	2	3	3	4	1	1			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:150960623C>T	ENST00000368947.4	+	11	1230	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	252					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGTCCAGAACCGTTTCCATGG	0.532													9	66					0	0	0	0	T	150960623	C	T	150960623	3	4	48	1	0	0	0	0	1	0	0	0	726	652	23	1	788	1	ANXA9	1	150960623	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	50610678	150960623	98289998	4	9390											
HRNR	388697	broad.mit.edu	37	chr1	152187078	152187078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatgagctagactcgtggtGaccaaatccagaagactgac	13	7	10	11	1	0	6	0	3	0	3	2	6	1	6	3	1	1	1	3	1	3	1			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:152187078G>A	ENST00000368801.2	-	3	7102	c.7027C>T	c.(7027-7029)Cac>Tac	p.H2343Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2343					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCGTGGTGACCAAATCCA	0.577													42	2021					0	0	0	0	A	152187078	G	A	152187078	3	1	48	1	0	0	0	0	1	0	0	0	7409	1290	45	2	1529	2	HRNR	1	152187078	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	1226455	152187078	97063543	5	9391											
CADM3	57863	broad.mit.edu	37	chr1	159166196	159166196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaccctccccatcctcGtgagggccagaagctgttgc	7	7	11	16	1	0	3	0	1	0	2	3	3	2	3	6	1	2	2	6	1	1	1			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:159166196G>A	ENST00000368125.4	+	6	891	c.734G>A	c.(733-735)cGt>cAt	p.R245H	CADM3_ENST00000368124.4_Missense_Mutation_p.R279H|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	245	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CCCCATCCTCGTGAGGGCCAG	0.517											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	27					0	0	0	0	A	159166196	G	A	159166196	3	1	48	1	0	0	0	0	1	0	0	0	2593	1145	40	1	862	1	CADM3	1	159166196	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	6979118	159166196	90084425	6	9392											
CD34	947	broad.mit.edu	37	chr1	208073192	208073192	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtttgttgtggcctcattgCcatgttgagacacagggtgc	6	14	13	8	0	1	1	1	1	0	1	1	2	1	1	2	2	2	3	2	2	0	4			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:208073192C>A	ENST00000356522.4	-	2	557	c.236G>T	c.(235-237)gGc>gTc	p.G79V	CD34_ENST00000310833.7_Missense_Mutation_p.G79V|CD34_ENST00000537704.1_Missense_Mutation_p.A29S	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	79					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GGCCTCATTGCCATGTTGAGA	0.438													32	74					1.90571e-15	2.15741e-15	1	0	A	208073192	C	A	208073192	3	1	48	1	0	0	0	0	1	0	0	0	3035	739	26	4	968	4	CD34	1	208073192	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	48906996	208073192	41177429	7	9393											
PLD5	200150	broad.mit.edu	37	chr1	242277314	242277314	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctgtttttagggcaaaaGagttttggagaattctgtga	10	16	11	4	0	2	3	0	1	2	2	2	4	2	3	0	2	0	3	0	2	4	7			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:242277314G>C	ENST00000442594.2	-	8	1181	c.672C>G	c.(670-672)ctC>ctG	p.L224L	PLD5_ENST00000427495.1_Silent_p.L254L|PLD5_ENST00000536534.1_Silent_p.L316L	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	316	PLD phosphodiesterase 1.					integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TAGGGCAAAAGAGTTTTGGAG	0.403													8	48					0	0	0	0	C	242277314	G	C	242277314	2	2	48	1	0	0	0	0	0	0	0	1	12121	929	33	2		2	PLD5	1	242277314	Silent	SNP	G	TCGA-BB-7872-01A-11D-2229-08	34204122	242277314	6973307	8	9394											
ALK	238	broad.mit.edu	37	chr2	29754958	29754958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgtgcttggagtcagctGaggtgttgagaaggagaaag	10	10	18	3	0	1	3	1	2	0	2	1	6	1	4	0	4	2	3	0	4	2	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr2:29754958G>A	ENST00000389048.3	-	4	1883	c.977C>T	c.(976-978)tCa>tTa	p.S326L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	326	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGAGTCAGCTGAGGTGTTGAG	0.552			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				13	44					0	0	0	0	A	29754958	G	A	29754958	3	1	48	1	0	0	0	0	1	0	0	0	525	1294	45	2	3989	2	ALK	2	29754958	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08		29754958	213444415	9	9395											
TLX2	3196	broad.mit.edu	37	chr2	74743315	74743315	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggctcgcctcggtggtgtGagcgacgcccgtccgatcgg	3	7	17	14	8	0	1	0	1	0	0	4	3	1	1	3	4	1	1	3	4	0	0			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr2:74743315G>C	ENST00000233638.7	+	3	1177	c.854G>C	c.(853-855)tGa>tCa	p.*285S		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						TCGGTGGTGTGAGCGACGCCC	0.706													4	25					0	0	0	0	C	74743315	G	C	74743315	4	2	48	1	0	0	0	0	0	0	0	0	16055	1285	45	2	864	2	TLX2	2	74743315	Nonstop_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	44988357	74743315	168456058	10	9396											
C1QL2	165257	broad.mit.edu	37	chr2	119914519	119914519	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttactggcgtagtcgtaGttctggtcggcgtcctgtgc	3	14	14	10	4	1	0	0	0	1	0	4	0	2	0	1	3	2	4	1	3	3	4			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr2:119914519G>A	ENST00000272520.3	-	2	1342	c.723C>T	c.(721-723)aaC>aaT	p.N241N		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	241	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CGTAGTCGTAGTTCTGGTCGG	0.617										HNSCC(49;0.14)			42	214					0	0	0	0	A	119914519	G	A	119914519	2	1	48	1	0	0	0	0	0	0	0	1	1978	1020	36	4		4	C1QL2	2	119914519	Silent	SNP	G	TCGA-BB-7872-01A-11D-2229-08	45171204	119914519	123284854	11	9397											
DHRS9	10170	broad.mit.edu	37	chr2	169952067	169952067	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttaggtctagacaaactGaaaggcaataaatcctatgt	15	13	7	6	0	1	2	0	1	1	1	2	2	2	2	1	2	1	1	1	2	8	6			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr2:169952067G>A	ENST00000327239.4	+	8	2254	c.750G>A	c.(748-750)ctG>ctA	p.L250L	DHRS9_ENST00000412271.1_Silent_p.L250L|DHRS9_ENST00000428522.1_Silent_p.L250L|DHRS9_ENST00000421653.1_Silent_p.L103L|DHRS9_ENST00000436483.2_Silent_p.L250L|DHRS9_ENST00000432060.2_Silent_p.L310L|DHRS9_ENST00000602501.1_Silent_p.L250L|DHRS9_ENST00000357546.2_Silent_p.L250L	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	250					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TAGACAAACTGAAAGGCAATA	0.453													29	139					0	0	0	0	A	169952067	G	A	169952067	2	1	48	1	0	0	0	0	0	0	0	1	4535	1277	45	2		2	DHRS9	2	169952067	Silent	SNP	G	TCGA-BB-7872-01A-11D-2229-08	50037548	169952067	73247306	12	9398											
SLC16A14	151473	broad.mit.edu	37	chr2	230911039	230911039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctgtgcccggcctgatcgGggcactcctgggcttgcagg	3	9	15	14	2	0	1	0	1	0	0	3	1	2	1	4	5	2	3	4	5	0	1			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr2:230911039G>T	ENST00000295190.4	-	4	1261	c.803C>A	c.(802-804)cCc>cAc	p.P268H		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	268						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGCCTGATCGGGGCACTCCTG	0.577													24	126					1.10923e-09	1.21007e-09	1	0	T	230911039	G	T	230911039	3	4	48	1	0	0	0	0	1	0	0	0	14495	1232	43	4	737	4	SLC16A14	2	230911039	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	60958972	230911039	12288334	13	9399											
EPHA3	2042	broad.mit.edu	37	chr3	89448519	89448519	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcaagaggcacaaatgttAccatcagtagcctcaagcct	13	7	10	11	0	2	1	2	0	0	1	2	1	2	1	3	2	3	4	3	2	5	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr3:89448519A>T	ENST00000336596.2	+	7	1708	c.1483A>T	c.(1483-1485)Acc>Tcc	p.T495S	EPHA3_ENST00000494014.1_Missense_Mutation_p.T495S|EPHA3_ENST00000452448.2_Missense_Mutation_p.T495S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	495	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CACAAATGTTACCATCAGTAG	0.413										TSP Lung(6;0.00050)			26	48					0	0	0	0	T	89448519	A	T	89448519	3	4	48	1	0	0	0	0	1	0	0	0	5206	391	14	5	1509	5	EPHA3	3	89448519	Missense_Mutation	SNP	A	TCGA-BB-7872-01A-11D-2229-08		89448519	108573911	14	9400											
SEMA5B	54437	broad.mit.edu	37	chr3	122631071	122631071	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgtgtgcagcccgagacaGatgtcctcacctggggaggg	7	7	15	12	2	1	2	1	0	0	2	3	4	3	3	4	3	2	1	4	3	0	0			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr3:122631071G>C	ENST00000195173.4	-	19	3144	c.2841C>G	c.(2839-2841)atC>atG	p.I947M	SEMA5B_ENST00000451055.2_Missense_Mutation_p.I1002M|SEMA5B_ENST00000357599.3_Missense_Mutation_p.I948M			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	948	TSP type-1 4.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCCCGAGACAGATGTCCTCAC	0.642													9	21					0	0	0	0	C	122631071	G	C	122631071	3	2	48	1	0	0	0	0	1	0	0	0	14125	932	33	2	631	2	SEMA5B	3	122631071	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	33182552	122631071	75391359	15	9401											
ALDH1L1	10840	broad.mit.edu	37	chr3	125833427	125833427	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccttgttgaggtcacaGtcagcaaagatgatgagggg	12	8	14	7	0	2	4	2	3	0	1	2	4	2	4	1	3	2	2	1	3	1	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr3:125833427G>C	ENST00000393434.2	-	18	2404	c.2055C>G	c.(2053-2055)gaC>gaG	p.D685E	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D584E|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D685E|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D695E	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	685	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGAGGTCACAGTCAGCAAAGA	0.612													35	81					0	0	0	0	C	125833427	G	C	125833427	3	2	48	1	0	0	0	0	1	0	0	0	494	1020	36	4	677	4	ALDH1L1	3	125833427	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	3202356	125833427	72189003	16	9402											
HLTF	6596	broad.mit.edu	37	chr3	148760013	148760013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtatggcaacaaatttgccGcagtctaagcaaaagaccca	16	7	8	10	1	1	1	0	0	1	1	1	1	1	1	2	1	3	4	2	1	6	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr3:148760013G>A	ENST00000310053.5	-	19	2330	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	HLTF_ENST00000392912.2_Missense_Mutation_p.R713W|HLTF_ENST00000465259.1_Missense_Mutation_p.R712W|HLTF_ENST00000494055.1_Missense_Mutation_p.R713W	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	713					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAAATTTGCCGCAGTCTAAGC	0.388													26	47					0	0	0	0	A	148760013	G	A	148760013	3	1	48	1	0	0	0	0	1	0	0	0	7265	1086	38	1	920	1	HLTF	3	148760013	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	22926586	148760013	49262417	17	9403											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540626	169540626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgcctggtcaacttgcGcttcctggacctaagccaga	8	9	11	13	1	1	1	1	0	0	1	2	2	2	2	4	3	4	1	4	3	2	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr3:169540626G>A	ENST00000340806.6	+	1	917	c.917G>A	c.(916-918)cGc>cAc	p.R306H		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	306										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTCAACTTGCGCTTCCTGGAC	0.577													8	36					0	0	0	0	A	169540626	G	A	169540626	3	1	48	1	0	0	0	0	1	0	0	0	9095	1087	38	1	919	1	LRRIQ4	3	169540626	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	20780613	169540626	28481804	18	9404											
FGFR3	2261	broad.mit.edu	37	chr4	1807820	1807820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgcaatgtgctggtgaccGaggacaacgtgatgaagatc	11	7	13	10	3	0	4	0	3	0	1	1	6	0	5	2	2	2	2	2	2	3	0			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr4:1807820G>A	ENST00000340107.4	+	14	2141	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	FGFR3_ENST00000260795.2_Missense_Mutation_p.E627K|FGFR3_ENST00000412135.2_Missense_Mutation_p.E515K|FGFR3_ENST00000481110.2_Missense_Mutation_p.E628K|FGFR3_ENST00000352904.1_Missense_Mutation_p.E515K|FGFR3_ENST00000440486.2_Missense_Mutation_p.E627K	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	627	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.E627K(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GCTGGTGACCGAGGACAACGT	0.647		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				8	22					0	0	0	0	A	1807820	G	A	1807820	3	1	48	1	0	0	0	0	1	0	0	0	5912	1059	37	1	2084	1	FGFR3	4	1807820	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08		1807820	189346456	19	9405											
FAT1	2195	broad.mit.edu	37	chr4	187539651	187539651	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaattttggaagctgcatttCcggtggaaggattttaacat	12	14	10	5	1	0	0	0	0	0	0	1	3	1	3	1	4	3	2	1	4	4	5			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr4:187539651C>A	ENST00000441802.2	-	10	8298	c.8089G>T	c.(8089-8091)Gaa>Taa	p.E2697*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2697	Cadherin 24.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.E2700*(2)|p.E2697*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCTGCATTTCCGGTGGAAGG	0.393										HNSCC(5;0.00058)			30	114					1.75199e-13	1.96484e-13	1	0	A	187539651	C	A	187539651	4	1	48	1	0	0	0	0	0	1	0	0	5734	864	30	2	5749	2	FAT1	4	187539651	Nonsense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	185731831	187539651	3614625	20	9406											
CTNND2	1501	broad.mit.edu	37	chr5	11346613	11346613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgtcggtaggggtccGcgtaattggaggctgggccg	5	8	19	9	4	0	0	0	0	0	0	2	1	1	1	2	6	1	5	2	6	2	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr5:11346613G>A	ENST00000304623.8	-	9	1688	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.A163V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A500V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A67V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A409V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	500					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGGGGTCCGCGTAATTGGA	0.662													11	130					0	0	0	0	A	11346613	G	A	11346613	3	1	48	1	0	0	0	0	1	0	0	0	4052	1087	38	1	2234	1	CTNND2	5	11346613	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08		11346613	169568647	21	9407											
CDH12	1010	broad.mit.edu	37	chr5	21854831	21854831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctgaagaatgctgtaaaCgactctggcactgtttccat	10	12	8	11	1	1	2	0	1	1	1	3	3	3	2	2	1	2	4	2	1	4	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr5:21854831C>T	ENST00000382254.1	-	7	1681	c.595G>A	c.(595-597)Gtt>Att	p.V199I	CDH12_ENST00000504376.2_Missense_Mutation_p.V199I|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Intron	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	199	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATGCTGTAAACGACTCTGGCA	0.403										HNSCC(59;0.17)			12	53					0	0	0	0	T	21854831	C	T	21854831	3	4	48	1	0	0	0	0	1	0	0	0	3127	536	19	1	1825	1	CDH12	5	21854831	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	10508218	21854831	159060429	22	9408											
PCDHA7	56141	broad.mit.edu	37	chr5	140215583	140215583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttccaggtgagcgcgcgcGatgcgggcgtgccgcctctg	4	7	17	13	7	1	1	0	1	1	0	2	2	2	1	3	2	3	1	3	2	0	1			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr5:140215583G>A	ENST00000525929.1	+	1	1615	c.1615G>A	c.(1615-1617)Gat>Aat	p.D539N	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.D539N|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGCGCGCGATGCGGGCGT	0.682													36	185					0	0	0	0	A	140215583	G	A	140215583	3	1	48	1	0	0	0	0	1	0	0	0	11600	1058	37	1	1617	1	PCDHA7	5	140215583	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	118360752	140215583	40699677	23	9409											
PCDHB11	56125	broad.mit.edu	37	chr5	140580943	140580943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcgacttccgcgtgggCgccacagaccgcggctcccc	4	7	12	18	6	0	1	0	0	0	1	3	2	2	1	5	2	0	2	5	2	0	2	rs141725405	byFrequency	TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr5:140580943C>T	ENST00000354757.3	+	1	1596	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G	PCDHB11_ENST00000536699.1_Silent_p.G167G	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		532	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGCGTGGGCGCCACAGACC	0.677													35	134					0	0	0	0	T	140580943	C	T	140580943	2	4	48	1	0	0	0	0	0	0	0	1	11607	755	27	1		1	PCDHB11	5	140580943	Silent	SNP	C	TCGA-BB-7872-01A-11D-2229-08	365360	140580943	40334317	24	9410											
ARHGAP26	23092	broad.mit.edu	37	chr5	142416771	142416771	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctttcagctgcgcagttGgacagcattggcttcagcat	7	12	11	11	1	3	0	2	0	1	0	3	1	3	1	0	2	4	7	0	2	0	4			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr5:142416771G>A	ENST00000378004.3	+	13	1510	c.1155G>A	c.(1153-1155)ttG>ttA	p.L385L	ARHGAP26_ENST00000274498.4_Silent_p.L385L	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	385	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCGCAGTTGGACAGCATTG	0.458													11	37					0	0	0	0	A	142416771	G	A	142416771	2	1	48	1	0	0	0	0	0	0	0	1	877	1339	47	4		4	ARHGAP26	5	142416771	Silent	SNP	G	TCGA-BB-7872-01A-11D-2229-08	1835828	142416771	38498489	25	9411											
FBXO38	81545	broad.mit.edu	37	chr5	147793811	147793811	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgaagttttttcctgtatCaaatatctggcaatttacaa	14	16	5	6	0	2	1	1	1	1	0	3	1	3	1	1	1	1	3	1	1	8	7			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr5:147793811C>G	ENST00000340253.5	+	10	1374	c.1206C>G	c.(1204-1206)atC>atG	p.I402M	FBXO38_ENST00000296701.6_Missense_Mutation_p.I402M|FBXO38_ENST00000513826.1_Missense_Mutation_p.I402M|FBXO38_ENST00000394370.3_Missense_Mutation_p.I402M			Q6PIJ6	FBX38_HUMAN	F-box protein 38	402						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCCTGTATCAAATATCTGG	0.368													12	61					0	0	0	0	G	147793811	C	G	147793811	3	3	48	1	0	0	0	0	1	0	0	0	5791	816	29	2	1240	2	FBXO38	5	147793811	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	5377040	147793811	33121449	26	9412											
VARS2	57176	broad.mit.edu	37	chr6	30890716	30890716	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctgagtgtgggacagaTgccctgagattcacactctg	9	10	11	11	0	2	3	1	2	1	2	3	5	3	4	2	1	1	0	2	1	0	1			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr6:30890716T>C	ENST00000321897.5	+	22	2780	c.2148T>C	c.(2146-2148)gaT>gaC	p.D716D	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Silent_p.D576D|VARS2_ENST00000541562.1_Silent_p.D746D|VARS2_ENST00000416670.2_Silent_p.D716D			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	716					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GTGGGACAGATGCCCTGAGAT	0.612													19	91					0	0	0	0	C	30890716	T	C	30890716	2	2	48	1	0	0	0	0	0	0	0	1	17220	1461	51	5		5	VARS2	6	30890716	Silent	SNP	T	TCGA-BB-7872-01A-11D-2229-08		30890716	140224351	27	9413											
FAM83B	222584	broad.mit.edu	37	chr6	54804719	54804719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcttcattagcatctgtttCcagccagagaaacctttttg	9	15	7	10	0	3	1	1	0	2	1	4	2	4	1	3	0	3	2	3	0	2	5			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr6:54804719C>G	ENST00000306858.7	+	5	1066	c.950C>G	c.(949-951)tCc>tGc	p.S317C		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	317										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GCATCTGTTTCCAGCCAGAGA	0.393													10	69					0	0	0	0	G	54804719	C	G	54804719	3	3	48	1	0	0	0	0	1	0	0	0	5680	855	30	2	964	2	FAM83B	6	54804719	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	23914003	54804719	116310348	28	9414											
CD109	135228	broad.mit.edu	37	chr6	74473351	74473351	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaagcaacatgattacatCattgagttttttgattatac	13	17	5	6	0	2	3	2	3	0	0	2	3	2	3	0	0	4	2	0	0	5	8			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr6:74473351C>G	ENST00000437994.2	+	10	1481	c.1050C>G	c.(1048-1050)atC>atG	p.I350M	CD109_ENST00000287097.5_Missense_Mutation_p.I350M|CD109_ENST00000422508.2_Missense_Mutation_p.I273M	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	350						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGATTACATCATTGAGTTTT	0.338													10	46					0	0	0	0	G	74473351	C	G	74473351	3	3	48	1	0	0	0	0	1	0	0	0	2992	816	29	2	1088	2	CD109	6	74473351	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	19668632	74473351	96641716	29	9415											
AIM1	202	broad.mit.edu	37	chr6	106968417	106968417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaaaattcactgaaattAtaaaacagatggatagcgca	19	9	8	5	1	1	2	1	1	0	1	1	4	1	4	0	2	2	1	0	2	7	4			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr6:106968417A>G	ENST00000369066.3	+	2	2597	c.2110A>G	c.(2110-2112)Ata>Gta	p.I704V		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	704							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CACTGAAATTATAAAACAGAT	0.423													23	80					0	0	0	0	G	106968417	A	G	106968417	3	3	48	1	0	0	0	0	1	0	0	0	430	449	16	5	2116	5	AIM1	6	106968417	Missense_Mutation	SNP	A	TCGA-BB-7872-01A-11D-2229-08	32495066	106968417	64146650	30	9416											
MEOX2	4223	broad.mit.edu	37	chr7	15652168	15652168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagttccttttcccgagcCgcagctccttgctgtccacc	5	11	7	18	2	0	0	0	0	0	0	4	1	4	0	7	0	3	4	7	0	0	4			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:15652168C>T	ENST00000262041.5	-	3	1168	c.759G>A	c.(757-759)gcG>gcA	p.A253A		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	253					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTTCCCGAGCCGCAGCTCCTT	0.507													23	125					0	0	0	0	T	15652168	C	T	15652168	2	4	48	1	0	0	0	0	0	0	0	1	9543	639	23	1		1	MEOX2	7	15652168	Silent	SNP	C	TCGA-BB-7872-01A-11D-2229-08		15652168	143486495	31	9417											
ZNF713	349075	broad.mit.edu	37	chr7	56007147	56007147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatactgcagagaaaccCagtgagtgtgggaaggcctt	12	9	12	8	0	1	2	1	1	0	1	1	4	1	3	2	2	3	1	2	2	3	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:56007147C>T	ENST00000429591.2	+	4	779	c.741C>T	c.(739-741)ccC>ccT	p.P247P	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGAGAAACCCAGTGAGTGTG	0.408													6	42					0	0	0	0	T	56007147	C	T	56007147	2	4	48	1	0	0	0	0	0	0	0	1	18212	581	21	4		4	ZNF713	7	56007147	Silent	SNP	C	TCGA-BB-7872-01A-11D-2229-08	40354979	56007147	103131516	32	9418											
TYW1	55253	broad.mit.edu	37	chr7	66660171	66660171	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacagggcgttacctactgCggagaaagttcagcaagcag	12	6	12	11	2	1	1	1	0	0	1	1	2	1	1	2	2	5	4	2	2	4	3	rs140763959	byFrequency	TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:66660171C>T	ENST00000359626.5	+	15	1988	c.1824C>T	c.(1822-1824)tgC>tgT	p.C608C		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	608					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TTACCTACTGCGGAGAAAGTT	0.493													20	60					0	0	0	0	T	66660171	C	T	66660171	2	4	48	1	0	0	0	0	0	0	0	1	16914	776	27	1		1	TYW1	7	66660171	Silent	SNP	C	TCGA-BB-7872-01A-11D-2229-08	10653024	66660171	92478492	33	9419											
CALCR	799	broad.mit.edu	37	chr7	93055794	93055794	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgggatgtcgccagcctcCgcagcagcggctgcagcgcg	6	6	15	14	5	0	0	0	0	0	0	2	1	1	1	3	2	5	4	3	2	0	1			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:93055794C>T	ENST00000359558.2	-	16	1700	c.1401G>A	c.(1399-1401)gcG>gcA	p.A467A	CALCR_ENST00000421592.1_Silent_p.A449A|CALCR_ENST00000426151.1_Silent_p.A433A|CALCR_ENST00000394441.1_Silent_p.A433A|CALCR_ENST00000360249.4_Silent_p.A449A	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	449					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.A433A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CGCCAGCCTCCGCAGCAGCGG	0.582													27	115					0	0	0	0	T	93055794	C	T	93055794	2	4	48	1	0	0	0	0	0	0	0	1	2604	639	23	1		1	CALCR	7	93055794	Silent	SNP	C	TCGA-BB-7872-01A-11D-2229-08	26395623	93055794	66082869	34	9420											
AZGP1	563	broad.mit.edu	37	chr7	99564900	99564900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggctggtgaccaccacaGagggaggatctgtggaggga	9	6	19	7	0	1	2	0	1	1	1	1	6	1	6	2	7	0	1	2	7	0	0			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:99564900G>A	ENST00000292401.4	-	4	759	c.623C>T	c.(622-624)tCt>tTt	p.S208F	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	208	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GACCACCACAGAGGGAGGATC	0.577													9	31					0	0	0	0	A	99564900	G	A	99564900	3	1	48	1	0	0	0	0	1	0	0	0	1243	942	33	2	277	2	AZGP1	7	99564900	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	6509106	99564900	59573763	35	9421											
ZCWPW1	55063	broad.mit.edu	37	chr7	100000187	100000187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgactcgcttacgaatggGcaaaattgggtcctgaggat	10	12	12	7	2	0	2	0	2	0	0	2	4	1	3	1	3	1	2	1	3	4	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:100000187G>A	ENST00000398027.2	-	16	1670	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.P355S|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.P355S|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	475							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTACGAATGGGCAAAATTGGG	0.438													6	530					0	0	0	0	A	100000187	G	A	100000187	3	1	48	1	0	0	0	0	1	0	0	0	17692	1203	42	4	535	4	ZCWPW1	7	100000187	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	435287	100000187	59138476	36	9422											
ARMC10	83787	broad.mit.edu	37	chr7	102724150	102724151	+	Frame_Shift_Ins	INS	-	-	T																															gacttaactgatggttcataINStgatgatgttctaaatgctg																										TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:102724150_102724151insT	ENST00000323716.3	+	3	658_659	c.266_267insT	c.(265-267)tgafs	p.*89fs	ARMC10_ENST00000454559.1_Frame_Shift_Ins_p.*54fs|ARMC10_ENST00000441711.2_Frame_Shift_Ins_p.*54fs|ARMC10_ENST00000428183.2_Frame_Shift_Ins_p.*89fs|ARMC10_ENST00000425331.1_Frame_Shift_Ins_p.*54fs|ARMC10_ENST00000541300.1_Frame_Shift_Ins_p.*54fs	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	89					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						GATGGTTCATATGATGATGTTC	0.361													9	36	---	---	---	---					T	102724151	-	T	102724150	7	5	48	1	0	1	1	0	0	0	0	0	954	449	16	0	276	0	ARMC10	7	102724150	Frame_Shift_Ins	INS	-	TCGA-BB-7872-01A-11D-2229-08	2723963	102724150	56414513	37	9423											
NAMPT	10135	broad.mit.edu	37	chr7	105903920	105903920	+	Missense_Mutation	SNP	C	C	T																															ttcttgatactattaaatgtCttagatcttcaccccatatt																										TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:105903920C>T	ENST00000222553.3	-	7	1194	c.887G>A	c.(886-888)aGa>aAa	p.R296K	NAMPT_ENST00000354289.4_Missense_Mutation_p.R296K	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	296					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TATTAAATGTCTTAGATCTTC	0.363													7	41					0	0	0	0	T	105903920	C	T	105903920	3	4	48	1	0	0	0	0	1	0	0	0	10219	913	32	2	608	2	NAMPT	7	105903920	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	3179770	105903920	53234743	38	9424	89	2									
NAMPT	10135	broad.mit.edu	37	chr7	105903927	105903927	+	Missense_Mutation	SNP	C	C	A																															tactattaaatgtcttagatCttcaccccatattttctcac																										TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:105903927C>A	ENST00000222553.3	-	7	1187	c.880G>T	c.(880-882)Gat>Tat	p.D294Y	NAMPT_ENST00000354289.4_Missense_Mutation_p.D294Y	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	294					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGTCTTAGATCTTCACCCCAT	0.368													7	48					8.12818e-05	8.48158e-05	1	0	A	105903927	C	A	105903927	3	1	48	1	0	0	0	0	1	0	0	0	10219	913	32	2	615	2	NAMPT	7	105903927	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	7	105903927	53234736	39	9425	89	2									
METTL2B	55798	broad.mit.edu	37	chr7	128119226	128119227	+	Frame_Shift_Ins	INS	-	-	T																															tacagttgattatgagatcaINSatgcccacaaatactggaat																										TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:128119226_128119227insT	ENST00000480046.1	+	2	137_138	c.22_23insT	c.(22-24)tgcfs	p.C8fs	METTL2B_ENST00000262432.8_Frame_Shift_Ins_p.C73fs			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	73							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TTATGAGATCAATGCCCACAAA	0.337													19	49	---	---	---	---					T	128119227	-	T	128119226	7	5	48	1	0	1	1	0	0	0	0	0	9569	130	5	0	227	0	METTL2B	7	128119226	Frame_Shift_Ins	INS	-	TCGA-BB-7872-01A-11D-2229-08	22215299	128119226	31019437	40	9426											
ESYT2	57488	broad.mit.edu	37	chr7	158534482	158534482	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctggagacccagacatatGagatttgatggatgttttcc	10	12	11	8	0	0	4	0	2	0	3	1	7	1	5	3	2	0	1	3	2	1	4			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:158534482G>C	ENST00000251527.5	-	17	2046	c.1981C>G	c.(1981-1983)Cat>Gat	p.H661D	ESYT2_ENST00000435514.2_Missense_Mutation_p.H96D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	689						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CCAGACATATGAGATTTGATG	0.537													21	50					0	0	0	0	C	158534482	G	C	158534482	3	2	48	1	0	0	0	0	1	0	0	0	5303	1290	45	2	724	2	ESYT2	7	158534482	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	30415256	158534482	604181	41	9427											
DUSP26	78986	broad.mit.edu	37	chr8	33451068	33451068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcctggctggctcagcGcccggtggatgaagtcggca	6	8	14	13	3	1	1	1	1	0	0	3	2	2	2	3	5	2	3	3	5	2	1	rs147770891		TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr8:33451068G>A	ENST00000256261.4	-	3	936	c.419C>T	c.(418-420)gCg>gTg	p.A140V	DUSP26_ENST00000523956.1_Missense_Mutation_p.A140V	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	140	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A140V(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CTGGCTCAGCGCCCGGTGGAT	0.607													10	44					0	0	0	0	A	33451068	G	A	33451068	3	1	48	1	0	0	0	0	1	0	0	0	4859	1087	38	1	224	1	DUSP26	8	33451068	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08		33451068	112912954	42	9428											
FBXO43	286151	broad.mit.edu	37	chr8	101153496	101153496	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccactgtcttcaggcgttGaaatactgcctctcacttca	10	12	6	13	1	4	1	3	1	2	0	5	1	4	1	2	1	3	1	2	1	3	4			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr8:101153496G>C	ENST00000428847.2	-	2	1302	c.986C>G	c.(985-987)tCa>tGa	p.S329*		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	329					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTCAGGCGTTGAAATACTGCC	0.408													13	86					0	0	0	0	C	101153496	G	C	101153496	4	2	48	1	0	0	0	0	0	1	0	0	5797	1294	45	2	1156	2	FBXO43	8	101153496	Nonsense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	67702428	101153496	45210526	43	9429											
NUDCD1	84955	broad.mit.edu	37	chr8	110255387	110255387	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtcctacttgcctgccttCctttctgttgtaaagtacag	6	16	7	12	0	1	0	0	0	1	0	3	0	3	0	4	0	4	3	4	0	4	7			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr8:110255387C>A	ENST00000239690.4	-	10	1977	c.1603G>T	c.(1603-1605)Gaa>Taa	p.E535*	NUDCD1_ENST00000427660.2_Nonsense_Mutation_p.E506*	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	535										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TGCCTGCCTTCCTTTCTGTTG	0.443													48	321					1.19451e-25	1.39167e-25	1	0	A	110255387	C	A	110255387	4	1	48	1	0	0	0	0	0	1	0	0	10793	864	30	2	152	2	NUDCD1	8	110255387	Nonsense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	9101891	110255387	36108635	44	9430											
FER1L6	654463	broad.mit.edu	37	chr8	125082795	125082795	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagaggcaagtctacggaaGatgaccatggtcttgatgga	12	9	13	7	1	3	4	1	2	2	2	3	6	3	6	1	4	1	1	1	4	3	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr8:125082795G>C	ENST00000522917.1	+	30	4128	c.3922G>C	c.(3922-3924)Gat>Cat	p.D1308H	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D1308H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1308						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTCTACGGAAGATGACCATGG	0.403													23	145					0	0	0	0	C	125082795	G	C	125082795	3	2	48	1	0	0	0	0	1	0	0	0	5860	942	33	2	4036	2	FER1L6	8	125082795	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	14827408	125082795	21281227	45	9431											
EEF1D	1936	broad.mit.edu	37	chr8	144671921	144671921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgacttgtccagccacaCgcgttcggccgagaggccca	9	6	12	14	4	0	2	0	1	0	1	2	3	1	2	4	2	1	1	4	2	1	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr8:144671921C>T	ENST00000532741.1	-	1	709	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.V111M|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.V111M|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000524624.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	11					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TCCAGCCACACGCGTTCGGCC	0.677													10	38					0	0	0	0	T	144671921	C	T	144671921	3	4	48	1	0	0	0	0	1	0	0	0	4962	536	19	1	1644	1	EEF1D	8	144671921	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	19589126	144671921	1692101	46	9432											
ABCA1	19	broad.mit.edu	37	chr9	107602634	107602634	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggctttgtagttgttgTcctcataccagttgagagac	9	13	12	7	0	1	3	1	1	0	2	2	4	2	3	2	1	1	5	2	1	2	6			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr9:107602634T>G	ENST00000374736.3	-	9	1374	c.980A>C	c.(979-981)gAc>gCc	p.D327A		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	327					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTAGTTGTTGTCCTCATACCA	0.532													28	42					0	0	0	0	G	107602634	T	G	107602634	3	3	48	1	0	0	0	0	1	0	0	0	28	1667	58	5	5973	5	ABCA1	9	107602634	Missense_Mutation	SNP	T	TCGA-BB-7872-01A-11D-2229-08		107602634	33610797	47	9433											
NOTCH1	4851	broad.mit.edu	37	chr9	139407990	139407990	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacagtcgcacttgtacCtgcaagggggaccacactgc	9	7	12	13	1	1	0	1	0	0	0	2	1	1	1	2	3	3	3	2	3	2	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr9:139407990C>T	ENST00000277541.6	-	14	2283		c.e14-1			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCACTTGTACCTGCAAGGGGG	0.627			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			15	34					0	0	0	0	T	139407990	C	T	139407990	5	4	48	1	0	0	0	0	0	0	1	0	10617	695	24	4	5544	4	NOTCH1	9	139407990	Splice_Site	SNP	C	TCGA-BB-7872-01A-11D-2229-08	31805356	139407990	1805441	48	9434											
ARMC4	55130	broad.mit.edu	37	chr10	28233261	28233261	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactcttgtgtggagaatCaagtatattcaccataattg	13	14	8	6	0	3	2	2	0	1	2	3	3	3	2	1	1	0	1	1	1	6	7			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr10:28233261C>A	ENST00000305242.5	-	12	1725	c.1633G>T	c.(1633-1635)Gat>Tat	p.D545Y	ARMC4_ENST00000537576.1_Missense_Mutation_p.D237Y|ARMC4_ENST00000545014.1_Missense_Mutation_p.D70Y	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	545							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGTGGAGAATCAAGTATATTC	0.428													4	34					1.23904e-05	1.30425e-05	1	0	A	28233261	C	A	28233261	3	1	48	1	0	0	0	0	1	0	0	0	957	826	29	2	1537	2	ARMC4	10	28233261	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08		28233261	107301486	49	9435											
POLL	27343	broad.mit.edu	37	chr10	103340143	103340143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgccacacacagcagccCagagttaaaggcctgggctg	12	5	11	13	0	0	1	0	0	0	1	0	1	0	1	3	2	3	3	3	2	2	1			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr10:103340143C>T	ENST00000370162.3	-	8	1719	c.1225G>A	c.(1225-1227)Ggg>Agg	p.G409R	POLL_ENST00000370158.3_Missense_Mutation_p.G134R|POLL_ENST00000370168.3_Missense_Mutation_p.G82R|POLL_ENST00000370169.1_Missense_Mutation_p.G409R|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.G321R|POLL_ENST00000299206.4_Missense_Mutation_p.G409R|POLL_ENST00000339310.3_Missense_Mutation_p.G132R|DPCD_ENST00000470165.1_Intron|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000456836.2_Missense_Mutation_p.G146R	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	409					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CACAGCAGCCCAGAGTTAAAG	0.622								DNA polymerases (catalytic subunits)					18	95					0	0	0	0	T	103340143	C	T	103340143	3	4	48	1	0	0	0	0	1	0	0	0	12277	594	21	4	510	4	POLL	10	103340143	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	75106882	103340143	32194604	50	9436											
GPR26	2849	broad.mit.edu	37	chr10	125426522	125426522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaggtgctcaaggtggcccGcttccattgcaagcgcatcg	8	8	12	13	3	1	0	1	0	0	0	3	0	2	0	2	3	3	4	2	3	3	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr10:125426522G>A	ENST00000284674.1	+	1	652	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	200					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				AAGGTGGCCCGCTTCCATTGC	0.627													3	18					0	0	0	0	A	125426522	G	A	125426522	3	1	48	1	0	0	0	0	1	0	0	0	6733	1087	38	1	601	1	GPR26	10	125426522	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	22086379	125426522	10108225	51	9437											
DHX32	55760	broad.mit.edu	37	chr10	127540875	127540875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctacctggtctgttcatGaagtcacagtggcctaggcc	8	10	12	11	0	3	1	2	1	1	0	3	1	3	1	3	4	1	2	3	4	3	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr10:127540875G>C	ENST00000284690.3	-	6	1828	c.1338C>G	c.(1336-1338)ttC>ttG	p.F446L	DHX32_ENST00000284688.6_Missense_Mutation_p.F365L|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.F70L	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	446						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTCTGTTCATGAAGTCACAGT	0.512													6	39					0	0	0	0	C	127540875	G	C	127540875	3	2	48	1	0	0	0	0	1	0	0	0	4542	1281	45	2	917	2	DHX32	10	127540875	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	2114353	127540875	7993872	52	9438											
C10orf90	118611	broad.mit.edu	37	chr10	128150049	128150049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctccctgctccatcgCggggtgctggcgagggtgct	3	8	17	13	3	0	0	0	0	0	0	3	1	2	0	2	5	3	4	2	5	0	0			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr10:128150049C>T	ENST00000284694.7	-	5	1760	c.1640G>A	c.(1639-1641)cGc>cAc	p.R547H	C10orf90_ENST00000454341.1_Missense_Mutation_p.R450H|C10orf90_ENST00000544758.1_Missense_Mutation_p.R644H|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.R500H	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	547										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGCTCCATCGCGGGGTGCTGG	0.547													6	39					0	0	0	0	T	128150049	C	T	128150049	3	4	48	1	0	0	0	0	1	0	0	0	1633	768	27	1	479	1	C10orf90	10	128150049	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	609174	128150049	7384698	53	9439											
MUC5B	727897	broad.mit.edu	37	chr11	1276063	1276063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatggccaagtcttccaggCccggctgccctacagcctct	7	8	9	17	1	2	0	0	0	2	0	3	0	3	0	5	3	3	1	5	3	3	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr11:1276063C>A	ENST00000447027.1	+	35	15684	c.15626C>A	c.(15625-15627)gCc>gAc	p.A5209D	MUC5B_ENST00000529681.1_Missense_Mutation_p.A5206D			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5206	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTCTTCCAGGCCCGGCTGCCC	0.657													16	46					1.67942e-08	1.79937e-08	1	0	A	1276063	C	A	1276063	3	1	48	1	0	0	0	0	1	0	0	0	10049	739	26	4	15764	4	MUC5B	11	1276063	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08		1276063	133730453	54	9440											
ALDH3B1	221	broad.mit.edu	37	chr11	67787207	67787207	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgctgtggtgctgggCgggccccaggagacggggca	4	8	19	10	2	0	1	0	0	0	1	0	2	0	1	2	6	3	4	2	6	0	1			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr11:67787207C>T	ENST00000539229.1	+	7	617	c.501C>T	c.(499-501)ggC>ggT	p.G167G	ALDH3B1_ENST00000007633.8_Silent_p.G167G|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Silent_p.G167G|ALDH3B1_ENST00000342456.6_Silent_p.G131G	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	168					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	TGGTGCTGGGCGGGCCCCAGG	0.667													21	122					0	0	0	0	T	67787207	C	T	67787207	2	4	48	1	0	0	0	0	0	0	0	1	499	755	27	1		1	ALDH3B1	11	67787207	Silent	SNP	C	TCGA-BB-7872-01A-11D-2229-08	66511144	67787207	67219309	55	9441											
INPPL1	3636	broad.mit.edu	37	chr11	71946238	71946238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaagtccatggatggctatGaatcctatggtgaggggtga	10	11	14	6	0	1	3	1	3	0	0	3	4	3	4	2	5	0	1	2	5	4	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr11:71946238G>A	ENST00000298229.2	+	22	2698	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	INPPL1_ENST00000541756.1_Missense_Mutation_p.E590K|INPPL1_ENST00000538751.1_Missense_Mutation_p.E590K	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	832					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGATGGCTATGAATCCTATGG	0.547													20	47					0	0	0	0	A	71946238	G	A	71946238	3	1	48	1	0	0	0	0	1	0	0	0	7814	1291	45	2	2580	2	INPPL1	11	71946238	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	4159031	71946238	63060278	56	9442											
ARAP1	116985	broad.mit.edu	37	chr11	72412726	72412726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcggtcctgtagcagcttgCcggcagaggcagtcttgtag	6	9	16	10	2	1	1	0	0	1	1	2	1	2	1	2	4	3	6	2	4	2	4			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr11:72412726C>T	ENST00000359373.5	-	16	3121	c.2270G>A	c.(2269-2271)gGc>gAc	p.G757D	ARAP1_ENST00000393605.3_Missense_Mutation_p.G517D|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000429686.1_Missense_Mutation_p.G451D|ARAP1_ENST00000334211.8_Missense_Mutation_p.G512D|ARAP1_ENST00000393609.3_Missense_Mutation_p.G757D|ARAP1_ENST00000455638.2_Missense_Mutation_p.G757D|ARAP1_ENST00000426523.1_Missense_Mutation_p.G512D			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	757	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TAGCAGCTTGCCGGCAGAGGC	0.632													6	330					0	0	0	0	T	72412726	C	T	72412726	3	4	48	1	0	0	0	0	1	0	0	0	840	739	26	4	2162	4	ARAP1	11	72412726	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	466488	72412726	62593790	57	9443											
SCN3B	55800	broad.mit.edu	37	chr11	123513320	123513320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccttgctgccattccaCtgcaggcgcccctgaaaggg	7	8	12	14	1	0	1	0	1	0	0	2	1	2	1	5	3	3	2	5	3	1	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr11:123513320C>T	ENST00000392770.2	-	3	1081	c.279G>A	c.(277-279)caG>caA	p.Q93Q	SCN3B_ENST00000299333.3_Silent_p.Q93Q|SCN3B_ENST00000530277.1_Silent_p.Q93Q	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	93	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TGCCATTCCACTGCAGGCGCC	0.572													15	58					0	0	0	0	T	123513320	C	T	123513320	2	4	48	1	0	0	0	0	0	0	0	1	14006	564	20	4		4	SCN3B	11	123513320	Silent	SNP	C	TCGA-BB-7872-01A-11D-2229-08	51100594	123513320	11493196	58	9444											
KCNJ8	3764	broad.mit.edu	37	chr12	21918777	21918777	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaattgtttcttctcatGgagttgcgcttcctcagaga	8	15	10	8	1	3	1	2	0	2	1	5	4	4	3	1	2	1	3	1	2	1	5			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr12:21918777G>A	ENST00000240662.2	-	3	1500	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	385						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TTCTTCTCATGGAGTTGCGCT	0.448													30	99					0	0	0	0	A	21918777	G	A	21918777	2	1	48	1	0	0	0	0	0	0	0	1	8109	1335	47	4		4	KCNJ8	12	21918777	Silent	SNP	G	TCGA-BB-7872-01A-11D-2229-08		21918777	111933118	59	9445											
KRT76	51350	broad.mit.edu	37	chr12	53165950	53165950	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatactgggcgcggacctcGgcaatgatgctgcccaggtc	7	8	13	13	3	1	1	1	1	0	0	3	2	1	2	2	4	3	2	2	4	2	1			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr12:53165950G>T	ENST00000332411.2	-	5	1118	c.1065C>A	c.(1063-1065)gcC>gcA	p.A355A		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	355	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGCGGACCTCGGCAATGATGC	0.592													9	56					7.48243e-07	7.94594e-07	1	0	T	53165950	G	T	53165950	2	4	48	1	0	0	0	0	0	0	0	1	8541	1103	39	3		3	KRT76	12	53165950	Silent	SNP	G	TCGA-BB-7872-01A-11D-2229-08	31247173	53165950	80685945	60	9446											
LRP1	4035	broad.mit.edu	37	chr12	57570909	57570909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggattgcaggcaacatctaCtgggtggagagtaacctgga	11	9	14	7	0	1	1	0	0	1	1	1	4	1	3	1	5	4	3	1	5	3	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr12:57570909C>T	ENST00000243077.3	+	25	4543	c.4077C>T	c.(4075-4077)taC>taT	p.Y1359Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1359					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCAACATCTACTGGGTGGAGA	0.597													23	70					0	0	0	0	T	57570909	C	T	57570909	2	4	48	1	0	0	0	0	0	0	0	1	9015	576	20	4		4	LRP1	12	57570909	Silent	SNP	C	TCGA-BB-7872-01A-11D-2229-08	4404959	57570909	76280986	61	9447											
ZFC3H1	196441	broad.mit.edu	37	chr12	72007168	72007168	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacaaaaccgttccaaggtTttggaatgctgggtctttgg	10	12	12	7	1	1	0	0	0	1	0	2	2	2	1	2	4	3	3	2	4	5	4			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr12:72007168T>G	ENST00000378743.3	-	31	5932	c.5574A>C	c.(5572-5574)aaA>aaC	p.K1858N		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1858					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTTCCAAGGTTTTGGAATGCT	0.393													4	38					0	0	0	0	G	72007168	T	G	72007168	3	3	48	1	0	0	0	0	1	0	0	0	17728	1838	64	5	415	5	ZFC3H1	12	72007168	Missense_Mutation	SNP	T	TCGA-BB-7872-01A-11D-2229-08	14436259	72007168	61844727	62	9448											
NCOR2	9612	broad.mit.edu	37	chr12	124856697	124856697	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgccctccttcttctctGccttgagcgccccctcggcc	1	11	7	22	3	2	1	0	1	2	0	6	1	4	1	7	1	2	0	7	1	0	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr12:124856697G>C	ENST00000356219.3	-	21	2833	c.2678C>G	c.(2677-2679)gCa>gGa	p.A893G	NCOR2_ENST00000397355.1_Missense_Mutation_p.A876G|NCOR2_ENST00000429285.2_Missense_Mutation_p.A875G|NCOR2_ENST00000404621.1_Missense_Mutation_p.A875G|NCOR2_ENST00000404121.2_Missense_Mutation_p.A446G|NCOR2_ENST00000405201.1_Missense_Mutation_p.A893G	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	893					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTTCTTCTCTGCCTTGAGCGC	0.711													20	119					0	0	0	0	C	124856697	G	C	124856697	3	2	48	1	0	0	0	0	1	0	0	0	10306	1319	46	4	5002	4	NCOR2	12	124856697	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	52849529	124856697	8995198	63	9449											
ZIC2	7546	broad.mit.edu	37	chr13	100635305	100635305	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatccgcgtgcacacaggCgagaaacccttcccctgccc	9	5	8	19	3	0	1	0	0	0	1	2	2	2	1	5	1	3	1	5	1	1	1			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr13:100635305C>T	ENST00000376335.3	+	1	1280	c.987C>T	c.(985-987)ggC>ggT	p.G329G		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	329					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCACACAGGCGAGAAACCCT	0.607													54	82					0	0	0	0	T	100635305	C	T	100635305	2	4	48	1	0	0	0	0	0	0	0	1	17774	755	27	1		1	ZIC2	13	100635305	Silent	SNP	C	TCGA-BB-7872-01A-11D-2229-08		100635305	14534573	64	9450											
CPSF2	53981	broad.mit.edu	37	chr14	92597374	92597374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctttctggggtccaagaaGaatctgccctttgctatctt	7	14	8	12	0	3	2	0	0	3	2	4	2	4	2	3	2	2	1	3	2	4	4			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr14:92597374G>A	ENST00000298875.4	+	3	331	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	16					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGTCCAAGAAGAATCTGCCCT	0.373													17	66					0	0	0	0	A	92597374	G	A	92597374	3	1	48	1	0	0	0	0	1	0	0	0	3855	943	33	2	48	2	CPSF2	14	92597374	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08		92597374	14752166	65	9451											
RTF1	23168	broad.mit.edu	37	chr15	41767764	41767764	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttccgtttagagtttgtctCaaaccaagaattcaccgaaa	13	12	7	9	2	2	2	2	0	1	2	4	3	3	2	3	0	1	3	3	0	5	5			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr15:41767764C>G	ENST00000389629.4	+	10	1340	c.1328C>G	c.(1327-1329)tCa>tGa	p.S443*		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	443	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GAGTTTGTCTCAAACCAAGAA	0.423													15	59					0	0	0	0	G	41767764	C	G	41767764	4	3	48	1	0	0	0	0	0	1	0	0	13806	838	29	2	1366	2	RTF1	15	41767764	Nonsense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08		41767764	60763628	66	9452											
MPI	4351	broad.mit.edu	37	chr15	75185035	75185035	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcacctccaggctccgCagcactaccccgatgccaac	9	5	8	19	2	0	0	0	0	0	0	2	1	2	0	6	1	6	5	6	1	2	1			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr15:75185035C>T	ENST00000352410.4	+	4	446	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	MPI_ENST00000563786.1_Nonsense_Mutation_p.Q107*|MPI_ENST00000564003.1_Nonsense_Mutation_p.Q77*|MPI_ENST00000563422.1_Nonsense_Mutation_p.Q127*|MPI_ENST00000562606.1_Nonsense_Mutation_p.Q107*|MPI_ENST00000565576.1_Nonsense_Mutation_p.Q127*|MPI_ENST00000535694.1_Nonsense_Mutation_p.Q77*|MPI_ENST00000323744.6_Nonsense_Mutation_p.Q127*|MPI_ENST00000566377.1_Nonsense_Mutation_p.Q127*			P34949	MPI_HUMAN	mannose phosphate isomerase	127					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CCAGGCTCCGCAGCACTACCC	0.602													12	45					0	0	0	0	T	75185035	C	T	75185035	4	4	48	1	0	0	0	0	0	1	0	0	9799	711	25	4	393	4	MPI	15	75185035	Nonsense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	33417271	75185035	27346357	67	9453											
IQGAP1	8826	broad.mit.edu	37	chr15	91019984	91019984	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataaacagaagggaggtctCaaggctttgagcaaggagaa	17	6	13	5	0	1	3	1	1	1	2	2	5	1	4	0	4	2	2	0	4	7	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr15:91019984C>G	ENST00000268182.5	+	24	2998	c.2874C>G	c.(2872-2874)ctC>ctG	p.L958L	IQGAP1_ENST00000560738.1_Silent_p.L386L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	958	C1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGGGAGGTCTCAAGGCTTTGA	0.358													40	156					0	0	0	0	G	91019984	C	G	91019984	2	3	48	1	0	0	0	0	0	0	0	1	7867	813	29	2		2	IQGAP1	15	91019984	Silent	SNP	C	TCGA-BB-7872-01A-11D-2229-08	15834949	91019984	11511408	68	9454											
MCTP2	55784	broad.mit.edu	37	chr15	94841555	94841555	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggaccaggccattgttgAtcaacttgagcaagaagaag	14	7	12	8	1	1	4	1	2	0	2	1	5	1	5	2	2	3	2	2	2	4	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr15:94841555A>C	ENST00000357742.4	+	1	61	c.61A>C	c.(61-63)Atc>Ctc	p.I21L	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.I21L|MCTP2_ENST00000451018.3_Missense_Mutation_p.I21L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	21					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GCCATTGTTGATCAACTTGAG	0.502													20	73					0	0	0	0	C	94841555	A	C	94841555	3	2	48	1	0	0	0	0	1	0	0	0	9470	333	12	5	63	5	MCTP2	15	94841555	Missense_Mutation	SNP	A	TCGA-BB-7872-01A-11D-2229-08	3821571	94841555	7689837	69	9455											
TAOK2	9344	broad.mit.edu	37	chr16	29993035	29993035	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgagtgccttataccacAttgcacagaacgaatccccc	12	8	7	14	2	0	2	0	1	0	1	1	4	1	2	4	0	4	1	4	0	4	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr16:29993035A>G	ENST00000308893.4	+	9	1752	c.709A>G	c.(709-711)Att>Gtt	p.I237V	TAOK2_ENST00000543033.1_Missense_Mutation_p.I237V|TAOK2_ENST00000416441.2_Missense_Mutation_p.I64V|TAOK2_ENST00000279394.3_Missense_Mutation_p.I237V	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	237	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTTATACCACATTGCACAGAA	0.532													11	45					0	0	0	0	G	29993035	A	G	29993035	3	3	48	1	0	0	0	0	1	0	0	0	15639	217	8	5	739	5	TAOK2	16	29993035	Missense_Mutation	SNP	A	TCGA-BB-7872-01A-11D-2229-08		29993035	60361718	70	9456											
PHLPP2	23035	broad.mit.edu	37	chr16	71686699	71686699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagcggaacacacctctgtGatgatggctttttggtcctt	7	13	12	9	1	1	2	0	2	1	0	2	4	2	4	2	4	2	1	2	4	1	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr16:71686699G>A	ENST00000393524.2	-	16	3343	c.2610C>T	c.(2608-2610)atC>atT	p.I870I	PHLPP2_ENST00000540628.1_Silent_p.I147I|PHLPP2_ENST00000568954.1_Silent_p.I937I|PHLPP2_ENST00000360429.3_Silent_p.I937I|PHLPP2_ENST00000567016.1_Silent_p.I972I|PHLPP2_ENST00000356272.3_Silent_p.I937I			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	937	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACACCTCTGTGATGATGGCTT	0.552													9	49					0	0	0	0	A	71686699	G	A	71686699	2	1	48	1	0	0	0	0	0	0	0	1	11927	1280	45	2		2	PHLPP2	16	71686699	Silent	SNP	G	TCGA-BB-7872-01A-11D-2229-08	41693664	71686699	18668054	71	9457											
TP53	7157	broad.mit.edu	37	chr17	7577114	7577126	+	Frame_Shift_Del	DEL	CAAACACGCACCT	CAAACACGCACCT	-																															ggtctctcccaggacaggcaCaaacacgcacctcaaagctg																								rs121912657	by1000genomes	TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:7577114_7577126delCAAACACGCACCT	ENST00000420246.2	-	8	944_956	c.812_824delAGGTGCGTGTTTG	c.(811-825)gtfs	p.EVRVC271fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.EVRVC271fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.EVRVC271fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.EVRVC271fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.EVRVC271fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273C(481)|p.R273L(93)|p.V272M(82)|p.C275Y(53)|p.C275F(37)|p.R273P(32)|p.V272L(26)|p.V274F(21)|p.V274A(19)|p.R273S(16)|p.V274L(11)|p.R273G(9)|p.V274D(9)|p.V272E(8)|p.V274G(8)|p.0?(8)|p.C275G(7)|p.V272A(7)|p.C275R(7)|p.E271V(6)|p.V272G(6)|p.V272V(5)|p.C275fs*70(4)|p.V274I(4)|p.V272fs*73(4)|p.R273fs*72(3)|p.V274V(3)|p.E271G(3)|p.E271D(3)|p.E271fs*74(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.C275fs*31(2)|p.G266_E271delGRNSFE(2)|p.V272>?(2)|p.?(2)|p.C275S(2)|p.E271E(2)|p.E271fs*73(1)|p.V274fs*71(1)|p.R273_C275delRVC(1)|p.R273R(1)|p.E258fs*71(1)|p.E271*(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.E271del(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.E271P(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*34(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.A276fs*29(1)|p.E271fs*34(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGACAGGCACAAACACGCACCTCAAAGCTGTT	0.531	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)|R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	32	---	---	---	---					-	7577126	CAAACACGCACCT	-	7577114	7	5	48	1	0	1	0	1	0	0	0	0	16476	478	17	0	462	0	TP53	17	7577114	Frame_Shift_Del	DEL	CAAACACGCACCT	TCGA-BB-7872-01A-11D-2229-08		7577114	73618096	72	9458											
CDRT4	284040	broad.mit.edu	37	chr17	15343542	15343542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccttctttcttcatccttCttgcatccatcttcttttta	5	22	1	13	0	6	0	1	0	5	0	8	0	8	0	3	0	2	1	3	0	2	10			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:15343542C>T	ENST00000312177.6	-	3	291	c.11G>A	c.(10-12)aGa>aAa	p.R4K	TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_Intron|TVP23C_ENST00000519970.1_Intron	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	4										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		CTTCATCCTTCTTGCATCCAT	0.468													7	38					0	0	0	0	T	15343542	C	T	15343542	3	4	48	1	0	0	0	0	1	0	0	0	3205	913	32	2	452	2	CDRT4	17	15343542	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	7766428	15343542	65851668	73	9459											
SEBOX	645832	broad.mit.edu	37	chr17	26691486	26691486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctggacaggagctatgtCgacacactgaggtgcgctga	10	7	15	9	2	0	2	0	2	0	0	1	6	0	4	0	3	3	3	0	3	1	1			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:26691486C>T	ENST00000536498.1	-	10	1849	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	SARM1_ENST00000379061.4_3'UTR|SEBOX_ENST00000431468.1_Missense_Mutation_p.R152Q|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000438614.1_Missense_Mutation_p.R151Q|CTB-96E2.3_ENST00000591482.1_RNA			Q9HB31	SEBOX_HUMAN	SEBOX homeobox	152					cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(1)|skin(1)	5	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GGAGCTATGTCGACACACTGA	0.627													4	15					0	0	0	0	T	26691486	C	T	26691486	3	4	48	1	0	0	0	0	1	0	0	0	14064	884	31	1	199	1	SEBOX	17	26691486	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	11347944	26691486	54503724	74	9460											
SPACA3	124912	broad.mit.edu	37	chr17	31322641	31322641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcagctgcctgctaccCtccagtgaggccaagctcta	7	9	9	16	0	2	1	1	1	1	0	3	1	3	1	4	1	6	4	4	1	3	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:31322641C>T	ENST00000580599.1	+	3	451	c.42C>T	c.(40-42)ccC>ccT	p.P14P	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000269053.3_Silent_p.P83P|SPACA3_ENST00000394638.1_Intron			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	83					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GCCTGCTACCCTCCAGTGAGG	0.612													15	52					0	0	0	0	T	31322641	C	T	31322641	2	4	48	1	0	0	0	0	0	0	0	1	15061	668	24	4		4	SPACA3	17	31322641	Silent	SNP	C	TCGA-BB-7872-01A-11D-2229-08	4631155	31322641	49872569	75	9461											
KRT14	3861	broad.mit.edu	37	chr17	39743027	39743027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcccccgatgccgcccccGatgccgcaggagcccttcat	5	5	10	21	5	1	0	1	0	0	0	1	3	1	1	8	1	3	1	8	1	0	1			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:39743027G>A	ENST00000167586.6	-	1	146	c.60C>T	c.(58-60)atC>atT	p.I20I		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	20	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				tgccgcccccgatgccgcAGG	0.701													3	14					0	0	0	0	A	39743027	G	A	39743027	2	1	48	1	0	0	0	0	0	0	0	1	8503	1048	37	1		1	KRT14	17	39743027	Silent	SNP	G	TCGA-BB-7872-01A-11D-2229-08	8420386	39743027	41452183	76	9462											
ANKFN1	162282	broad.mit.edu	37	chr17	54534295	54534295	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaacacctgttccattcctcGaacaagtttgtgaagacctt	12	12	6	11	1	0	2	0	1	0	1	3	3	2	2	4	0	2	2	4	0	4	4			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:54534295G>C	ENST00000566473.2	+	11	1290	c.1290G>C	c.(1288-1290)tcG>tcC	p.S430S	ANKFN1_ENST00000318698.2_Silent_p.S430S			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	430										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TCCATTCCTCGAACAAGTTTG	0.378													10	37					0	0	0	0	C	54534295	G	C	54534295	2	2	48	1	0	0	0	0	0	0	0	1	625	1045	37	3		3	ANKFN1	17	54534295	Silent	SNP	G	TCGA-BB-7872-01A-11D-2229-08	14791268	54534295	26660915	77	9463											
DNAH17	8632	broad.mit.edu	37	chr17	76497362	76497362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgttggcaaagcagtgtCgcttctcttcgtcccagcga	8	11	11	11	3	1	1	0	0	1	1	5	2	2	1	1	1	2	4	1	1	1	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:76497362C>T	ENST00000389840.5	-	35	5469	c.5345G>A	c.(5344-5346)cGa>cAa	p.R1782Q	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.R1791Q					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAAGCAGTGTCGCTTCTCTTC	0.587													13	65					0	0	0	0	T	76497362	C	T	76497362	3	4	48	1	0	0	0	0	1	0	0	0	4638	884	31	1	8189	1	DNAH17	17	76497362	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	21963067	76497362	4697848	78	9464											
LRRC45	201255	broad.mit.edu	37	chr17	79985273	79985273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtccccagttcctcgacttGatggagactattgataagca	10	12	9	10	1	0	3	0	2	0	1	3	5	2	3	3	1	1	2	3	1	2	5			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:79985273G>C	ENST00000306688.3	+	7	1128	c.786G>C	c.(784-786)ttG>ttC	p.L262F		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	262						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCCTCGACTTGATGGAGACTA	0.632													17	107					0	0	0	0	C	79985273	G	C	79985273	3	2	48	1	0	0	0	0	1	0	0	0	9066	1281	45	2	812	2	LRRC45	17	79985273	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	3487911	79985273	1209937	79	9465											
EMILIN2	84034	broad.mit.edu	37	chr18	2890969	2890969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaaagtgacaagctggaaGagctggatggaaaagtgaag	18	5	14	4	0	0	3	0	2	0	1	0	6	0	6	0	3	2	2	0	3	7	0			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr18:2890969G>C	ENST00000254528.3	+	4	1003	c.844G>C	c.(844-846)Gag>Cag	p.E282Q		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	282					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAAGCTGGAAGAGCTGGATGG	0.493													17	60					0	0	0	0	C	2890969	G	C	2890969	3	2	48	1	0	0	0	0	1	0	0	0	5132	943	33	2	858	2	EMILIN2	18	2890969	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08		2890969	75186279	80	9466											
RBBP8	5932	broad.mit.edu	37	chr18	20548852	20548852	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtttgaaaatatccggcAgcagaatcttaaacttatta	16	12	7	6	1	1	3	0	1	1	2	2	3	2	3	1	1	2	3	1	1	8	5			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr18:20548852A>T	ENST00000399722.2	+	5	683	c.332A>T	c.(331-333)cAg>cTg	p.Q111L	RBBP8_ENST00000360790.5_Missense_Mutation_p.Q111L|RBBP8_ENST00000399725.2_Missense_Mutation_p.Q111L|RBBP8_ENST00000327155.5_Missense_Mutation_p.Q111L	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	111					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AATATCCGGCAGCAGAATCTT	0.318								Homologous recombination					8	26					0	0	0	0	T	20548852	A	T	20548852	3	4	48	1	0	0	0	0	1	0	0	0	13187	188	7	5	346	5	RBBP8	18	20548852	Missense_Mutation	SNP	A	TCGA-BB-7872-01A-11D-2229-08	17657883	20548852	57528396	81	9467											
ZNF440	126070	broad.mit.edu	37	chr19	11942273	11942273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagatgacagactgaacttCcaggagaagaaagcttctcc	14	7	9	11	0	1	6	0	2	1	4	3	7	2	6	3	1	2	1	3	1	3	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr19:11942273C>A	ENST00000304060.5	+	4	446	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GACTGAACTTCCAGGAGAAGA	0.383													39	195					1.52319e-26	1.79198e-26	1	0	A	11942273	C	A	11942273	3	1	48	1	0	0	0	0	1	0	0	0	18008	854	30	2	296	2	ZNF440	19	11942273	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08		11942273	47186710	82	9468											
AKAP8	10270	broad.mit.edu	37	chr19	15466133	15466135	+	In_Frame_Del	DEL	CTC	CTC	-																															ctcacctcctaaattgtcatCtccttccatttctggatcaa																										TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr19:15466133_15466135delCTC	ENST00000269701.2	-	14	1730_1732	c.1670_1672delGAG	c.(1669-1674)gat>g	p.GD557del		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	557					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AAATTGTCATCTCCTTCCATTTC	0.542													26	94	---	---	---	---					-	15466135	CTC	-	15466133	7	5	48	1	0	1	0	1	0	0	0	0	457	913	32	0	410	0	AKAP8	19	15466133	In_Frame_Del	DEL	CTC	TCGA-BB-7872-01A-11D-2229-08	3523860	15466133	43662850	83	9469											
TGFB1	7040	broad.mit.edu	37	chr19	41854245	41854245	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttttaacttgagcctcagCagacgcagctctgcccggga	9	9	10	13	2	2	2	1	1	1	1	2	3	2	3	2	1	5	3	2	1	1	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr19:41854245C>A	ENST00000221930.5	-	2	1337	c.471G>T	c.(469-471)ctG>ctT	p.L157L		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	157					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	TGAGCCTCAGCAGACGCAGCT	0.547													27	166					3.1745e-13	3.52722e-13	1	0	A	41854245	C	A	41854245	2	1	48	1	0	0	0	0	0	0	0	1	15910	697	25	4		4	TGFB1	19	41854245	Silent	SNP	C	TCGA-BB-7872-01A-11D-2229-08	26388112	41854245	17274738	84	9470											
ERCC1	2067	broad.mit.edu	37	chr19	45918139	45918139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgggagacgaagtcctgctCtagcttctccatcaggaggt	8	9	12	12	2	3	1	1	0	2	1	5	4	4	2	3	3	2	2	3	3	2	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr19:45918139C>G	ENST00000300853.3	-	7	1273	c.682G>C	c.(682-684)Gag>Cag	p.E228Q	ERCC1_ENST00000423698.2_Missense_Mutation_p.E156Q|ERCC1_ENST00000340192.7_Missense_Mutation_p.E228Q|ERCC1_ENST00000013807.5_Missense_Mutation_p.E228Q|ERCC1_ENST00000589165.1_Missense_Mutation_p.E228Q|ERCC1_ENST00000591636.1_Intron	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	228					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		AAGTCCTGCTCTAGCTTCTCC	0.602								Nucleotide excision repair (NER)					13	79					0	0	0	0	G	45918139	C	G	45918139	3	3	48	1	0	0	0	0	1	0	0	0	5250	922	32	2	356	2	ERCC1	19	45918139	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	4063894	45918139	13210844	85	9471											
NLRP9	338321	broad.mit.edu	37	chr19	56243935	56243935	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatcacgccctcagactcaGataacccattcctccggaga	12	7	6	16	2	3	3	3	0	0	3	5	4	5	3	4	1	1	0	4	1	1	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr19:56243935G>C	ENST00000332836.2	-	2	1289	c.1262C>G	c.(1261-1263)tCt>tGt	p.S421C		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	421	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCAGACTCAGATAACCCATT	0.498													52	106					0	0	0	0	C	56243935	G	C	56243935	3	2	48	1	0	0	0	0	1	0	0	0	10554	942	33	2	1745	2	NLRP9	19	56243935	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	10325796	56243935	2885048	86	9472											
HCK	3055	broad.mit.edu	37	chr20	30662496	30662496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcccaagcaactatgtcGcccgcgttgactctctggag	9	9	9	14	3	1	1	0	1	1	0	4	2	2	2	2	1	2	2	2	1	3	2			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr20:30662496G>A	ENST00000534862.1	+	6	703	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	HCK_ENST00000538448.1_Missense_Mutation_p.A113T|HCK_ENST00000520553.1_Missense_Mutation_p.A113T|HCK_ENST00000518730.1_Missense_Mutation_p.A112T|HCK_ENST00000375852.2_Missense_Mutation_p.A134T|HCK_ENST00000375862.2_Missense_Mutation_p.A133T	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	134	SH3.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAACTATGTCGCCCGCGTTGA	0.547													53	113					0	0	0	0	A	30662496	G	A	30662496	3	1	48	1	0	0	0	0	1	0	0	0	7044	1087	38	1	424	1	HCK	20	30662496	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08		30662496	32363024	87	9473											
SETD4	54093	broad.mit.edu	37	chr21	37416118	37416118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatgaggattatggacaGaaacaaatccgtattccagg	16	8	10	7	1	0	2	0	1	0	1	2	4	2	4	2	3	2	2	2	3	5	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr21:37416118G>T	ENST00000399215.1	-	6	2235	c.863C>A	c.(862-864)tCt>tAt	p.S288Y	SETD4_ENST00000399212.1_Missense_Mutation_p.S264Y|SETD4_ENST00000399208.2_Missense_Mutation_p.S288Y|SETD4_ENST00000399207.1_Missense_Mutation_p.S288Y|SETD4_ENST00000332131.4_Missense_Mutation_p.S288Y|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399201.1_Missense_Mutation_p.S264Y|SETD4_ENST00000399205.1_Missense_Mutation_p.S264Y|SETD4_ENST00000481477.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4	288										autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						ATTATGGACAGAAACAAATCC	0.383													7	44					0.000157383	0.000161419	1	0	T	37416118	G	T	37416118	3	4	48	1	0	0	0	0	1	0	0	0	14220	942	33	2	502	2	SETD4	21	37416118	Missense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08		37416118	10713777	88	9474											
MYH9	4627	broad.mit.edu	37	chr22	36722649	36722649	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcgaggacgccacgtaCgccagatactggatgacctt	9	9	12	11	4	0	2	0	1	0	1	0	5	0	4	3	2	3	1	3	2	2	4			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr22:36722649C>T	ENST00000216181.5	-	5	806	c.576G>A	c.(574-576)gcG>gcA	p.A192A	MYH9_ENST00000401701.1_Silent_p.A192A	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	192	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACGCCACGTACGCCAGATACT	0.582			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				30	146					0	0	0	0	T	36722649	C	T	36722649	2	4	48	1	0	0	0	0	0	0	0	1	10112	523	19	1		1	MYH9	22	36722649	Silent	SNP	C	TCGA-BB-7872-01A-11D-2229-08		36722649	14581917	89	9475											
TBX22	50945	broad.mit.edu	37	chrX	79281198	79281198	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccggactcaccctgctcGggagagacctggatgcggca	8	5	13	15	3	1	1	1	0	0	1	2	5	1	4	3	4	2	2	3	4	0	0			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chrX:79281198G>A	ENST00000442340.1	+	5	685	c.195G>A	c.(193-195)tcG>tcA	p.S65S	TBX22_ENST00000373291.1_Silent_p.S65S|TBX22_ENST00000373296.3_Silent_p.S185S|TBX22_ENST00000373294.5_Silent_p.S185S	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	185					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CACCCTGCTCGGGAGAGACCT	0.493													8	14					0	0	0	0	A	79281198	G	A	79281198	2	1	48	1	0	0	0	0	0	0	0	1	15752	1103	39	1		1	TBX22	23	79281198	Silent	SNP	G	TCGA-BB-7872-01A-11D-2229-08		79281198	75989362	90	9476											
CHRDL1	91851	broad.mit.edu	37	chrX	109943935	109943935	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcagaatgttcccatgAcagttctccatctcctgttt	9	14	5	13	0	3	2	1	1	2	1	6	2	4	2	4	0	0	3	4	0	1	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chrX:109943935A>T	ENST00000218054.4	-	7	749	c.553T>A	c.(553-555)Tca>Aca	p.S185T	CHRDL1_ENST00000372042.1_Missense_Mutation_p.S186T|CHRDL1_ENST00000394797.4_Missense_Mutation_p.S185T|CHRDL1_ENST00000444321.2_Missense_Mutation_p.S185T|CHRDL1_ENST00000482160.1_Missense_Mutation_p.S106T|CHRDL1_ENST00000434224.1_Missense_Mutation_p.S106T|CHRDL1_ENST00000372045.1_Missense_Mutation_p.S179T	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	179					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TGTTCCCATGACAGTTCTCCA	0.398													12	22					0	0	0	0	T	109943935	A	T	109943935	3	4	48	1	0	0	0	0	1	0	0	0	3402	275	10	5	844	5	CHRDL1	23	109943935	Missense_Mutation	SNP	A	TCGA-BB-7872-01A-11D-2229-08	30662737	109943935	45326625	91	9477											
KLHL13	90293	broad.mit.edu	37	chrX	117043645	117043645	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggcagtcctgtctgactGcataactggctgcatatatg	10	12	10	9	0	1	1	0	1	1	0	2	1	2	1	1	2	3	4	1	2	4	3			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chrX:117043645G>A	ENST00000371876.1	-	4	3253	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	KLHL13_ENST00000371878.1_Nonsense_Mutation_p.Q278*|KLHL13_ENST00000545703.1_Nonsense_Mutation_p.Q287*|KLHL13_ENST00000539496.1_Nonsense_Mutation_p.Q332*|KLHL13_ENST00000541812.1_Nonsense_Mutation_p.Q313*|KLHL13_ENST00000371882.1_Nonsense_Mutation_p.Q278*|KLHL13_ENST00000262820.3_Nonsense_Mutation_p.Q329*|KLHL13_ENST00000540167.1_Nonsense_Mutation_p.Q313*|KLHL13_ENST00000469946.1_Nonsense_Mutation_p.Q278*			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	329	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTGTCTGACTGCATAACTGGC	0.463													26	51					0	0	0	0	A	117043645	G	A	117043645	4	1	48	1	0	0	0	0	0	1	0	0	8421	1328	46	4	994	4	KLHL13	23	117043645	Nonsense_Mutation	SNP	G	TCGA-BB-7872-01A-11D-2229-08	7099710	117043645	38226915	92	9478											
GPC4	2239	broad.mit.edu	37	chrX	132438874	132438874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttggcctgtttcagtttctCcttgacatcagtaacctaat	8	16	6	11	0	3	1	2	1	1	0	4	1	3	1	3	1	1	3	3	1	2	6			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chrX:132438874C>G	ENST00000370828.3	-	7	1695	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	GPC4_ENST00000535467.1_Missense_Mutation_p.E321Q	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	391			E -> D (in dbSNP:rs1129980).		anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TTCAGTTTCTCCTTGACATCA	0.428													29	39					0	0	0	0	G	132438874	C	G	132438874	3	3	48	1	0	0	0	0	1	0	0	0	6649	864	30	2	511	2	GPC4	23	132438874	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	15395229	132438874	22831686	93	9479											
MAP7D3	79649	broad.mit.edu	37	chrX	135303033	135303033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggacctggctggtaccatCttctagaaataccagcttgt	10	11	9	11	1	2	1	0	0	2	1	2	2	2	2	3	3	3	3	3	3	4	5			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chrX:135303033C>T	ENST00000316077.9	-	16	2597	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	MAP7D3_ENST00000370663.5_Missense_Mutation_p.D775N|MAP7D3_ENST00000370661.1_Missense_Mutation_p.D758N	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	793						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTGGTACCATCTTCTAGAAAT	0.378													71	110					0	0	0	0	T	135303033	C	T	135303033	3	4	48	1	0	0	0	0	1	0	0	0	9338	913	32	2	265	2	MAP7D3	23	135303033	Missense_Mutation	SNP	C	TCGA-BB-7872-01A-11D-2229-08	2864159	135303033	19967527	94	9480											
CLCNKA	1187	broad.mit.edu	37	chr1	16352699	16352699	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggccaaggtggtgggcctctCctgcaccctggccaccggca	5	6	14	16	1	1	0	0	0	1	0	2	0	1	0	6	6	1	2	6	6	1	0			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:16352699C>G	ENST00000375692.1	+	6	583	c.455C>G	c.(454-456)tCc>tGc	p.S152C	CLCNKA_ENST00000439316.2_Missense_Mutation_p.S109C|CLCNKA_ENST00000331433.4_Missense_Mutation_p.S152C|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.S152C			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	152					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GTGGGCCTCTCCTGCACCCTG	0.617													12	215					0	0	0	0	G	16352699	C	G	16352699	3	3	49	1	0	0	0	0	1	0	0	0	3499	855	30	2	469	2	CLCNKA	1	16352699	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08		16352699	232897922	1	9481											
UBR4	23352	broad.mit.edu	37	chr1	19404540	19404540	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacggtaagcggaatagtccTtcactgccttatctgtcagc	10	11	9	11	2	3	0	2	0	1	0	4	1	4	1	2	2	4	1	2	2	5	4			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:19404540T>C	ENST00000375267.2	-	104	15257	c.15254A>G	c.(15253-15255)aAg>aGg	p.K5085R	UBR4_ENST00000375224.1_Missense_Mutation_p.K792R|UBR4_ENST00000429347.2_Missense_Mutation_p.K608R|UBR4_ENST00000375225.3_Missense_Mutation_p.K160R|UBR4_ENST00000375217.2_Missense_Mutation_p.K5078R|UBR4_ENST00000543981.1_Missense_Mutation_p.K749R|UBR4_ENST00000375254.3_Missense_Mutation_p.K5085R|UBR4_ENST00000375226.2_Missense_Mutation_p.K5061R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5085					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGAATAGTCCTTCACTGCCTT	0.493													13	31					0	0	0	0	C	19404540	T	C	19404540	3	2	49	1	0	0	0	0	1	0	0	0	17000	1609	56	5	309	5	UBR4	1	19404540	Missense_Mutation	SNP	T	TCGA-BB-8596-01A-11D-2394-08	3051841	19404540	229846081	2	9482											
ZMYM4	9202	broad.mit.edu	37	chr1	35836031	35836031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatctggcatgaataaaatGcttccttcagttccagccac	11	12	6	12	0	3	1	2	1	1	0	5	1	5	1	3	1	2	3	3	1	3	4			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:35836031G>T	ENST00000314607.6	+	7	1064	c.984G>T	c.(982-984)atG>atT	p.M328I	ZMYM4_ENST00000373297.2_Missense_Mutation_p.M328I|ZMYM4_ENST00000482131.1_3'UTR	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	328					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAATAAAATGCTTCCTTCAG	0.393													7	74					8.12818e-05	8.31433e-05	1	0	T	35836031	G	T	35836031	3	4	49	1	0	0	0	0	1	0	0	0	17797	1319	46	4	1010	4	ZMYM4	1	35836031	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	16431491	35836031	213414590	3	9483											
BRDT	676	broad.mit.edu	37	chr1	92447253	92447253	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagcagcagcagctcatCagagtctgaaagtagcagca	14	5	11	11	0	3	2	2	1	1	1	3	2	3	2	0	0	7	8	0	0	2	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:92447253C>G	ENST00000370389.2	+	12	2648	c.1724C>G	c.(1723-1725)tCa>tGa	p.S575*	BRDT_ENST00000394530.3_Nonsense_Mutation_p.S602*|BRDT_ENST00000399546.2_Nonsense_Mutation_p.S648*|BRDT_ENST00000402388.1_Nonsense_Mutation_p.S648*|BRDT_ENST00000362005.3_Nonsense_Mutation_p.S648*	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		agcagcTCATCAGAGTCTGAA	0.453													23	46					0	0	0	0	G	92447253	C	G	92447253	4	3	49	1	0	0	0	0	0	1	0	0	1516	838	29	2	1985	2	BRDT	1	92447253	Nonsense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	56611222	92447253	156803368	4	9484											
ARNT	405	broad.mit.edu	37	chr1	150807017	150807017	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcttgacactcacctcAttcggcaaataaacgatctc	12	10	5	14	2	4	1	3	1	1	0	6	2	4	1	1	1	2	2	1	1	3	3			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:150807017A>T	ENST00000358595.5	-	8	1000	c.800T>A	c.(799-801)aTg>aAg	p.M267K	ARNT_ENST00000354396.2_Missense_Mutation_p.M267K|ARNT_ENST00000515192.1_Missense_Mutation_p.M258K|ARNT_ENST00000505755.1_Missense_Mutation_p.M252K|ARNT_ENST00000468970.1_5'UTR	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	267					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTCACCTCATTCGGCAAAT	0.438			T	ETV6	AML								7	102					0	0	0	0	T	150807017	A	T	150807017	3	4	49	1	0	0	0	0	1	0	0	0	969	217	8	5	1629	5	ARNT	1	150807017	Missense_Mutation	SNP	A	TCGA-BB-8596-01A-11D-2394-08	58359764	150807017	98443604	5	9485											
ALDH9A1	223	broad.mit.edu	37	chr1	165638641	165638641	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttcctctgtaaatttaTcaagaatttctttctgcaca	11	16	3	11	0	4	1	1	0	3	1	5	1	5	1	2	0	1	2	2	0	5	6			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:165638641T>C	ENST00000354775.4	-	7	1281	c.977A>G	c.(976-978)gAt>gGt	p.D326G	ALDH9A1_ENST00000538148.1_Missense_Mutation_p.D232G	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	302					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TGTAAATTTATCAAGAATTTC	0.398													7	61					0	0	0	0	C	165638641	T	C	165638641	3	2	49	1	0	0	0	0	1	0	0	0	506	1435	50	5	599	5	ALDH9A1	1	165638641	Missense_Mutation	SNP	T	TCGA-BB-8596-01A-11D-2394-08	14831624	165638641	83611980	6	9486											
TNR	7143	broad.mit.edu	37	chr1	175355319	175355319	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcctcccaccttccccGcccaccaggccatatttcaa	7	9	6	19	1	1	0	1	0	0	0	4	0	4	0	8	2	0	0	8	2	2	3			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:175355319G>A	ENST00000367674.1	-	8	2334	c.1626C>T	c.(1624-1626)ggC>ggT	p.G542G	TNR_ENST00000263525.2_Silent_p.G542G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	542	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACCTTCCCCGCCCACCAGGC	0.587													28	45					0	0	0	0	A	175355319	G	A	175355319	2	1	49	1	0	0	0	0	0	0	0	1	16432	1074	38	1		1	TNR	1	175355319	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08	9716678	175355319	73895302	7	9487											
IKBKE	9641	broad.mit.edu	37	chr1	206652357	206652357	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaggagtacctctttgAgggtcacctctgtgtcctcg	7	11	10	13	1	3	1	1	1	2	0	5	2	4	2	4	2	1	1	4	2	1	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:206652357A>G	ENST00000367120.3	+	10	1437	c.1064A>G	c.(1063-1065)gAg>gGg	p.E355G	IKBKE_ENST00000462698.1_3'UTR|IKBKE_ENST00000537984.1_Missense_Mutation_p.E270G	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	355					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TACCTCTTTGAGGGTCACCTC	0.622													63	140					0	0	0	0	G	206652357	A	G	206652357	3	3	49	1	0	0	0	0	1	0	0	0	7665	304	11	5	1094	5	IKBKE	1	206652357	Missense_Mutation	SNP	A	TCGA-BB-8596-01A-11D-2394-08	31297038	206652357	42598264	8	9488											
YOD1	55432	broad.mit.edu	37	chr1	207222776	207222776	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caagtgtcatcccttttgatCcagtcacagtactcttgatt	9	15	6	11	0	3	2	2	2	1	0	5	2	5	2	2	0	1	1	2	0	2	5			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:207222776C>T	ENST00000367084.1	-	4	708	c.504G>A	c.(502-504)tgG>tgA	p.W168*	YOD1_ENST00000391927.1_Nonsense_Mutation_p.W168*|YOD1_ENST00000315927.4_Nonsense_Mutation_p.W212*	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	212	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CCCTTTTGATCCAGTCACAGT	0.418													12	222					0	0	0	0	T	207222776	C	T	207222776	4	4	49	1	0	0	0	0	0	1	0	0	17584	856	30	2	414	2	YOD1	1	207222776	Nonsense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	570419	207222776	42027845	9	9489											
PROX1	5629	broad.mit.edu	37	chr1	214170981	214170981	+	Frame_Shift_Del	DEL	T	T	-																															gcaagttgtggacactgtggTcaaagtcttttcggccaagc																										TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:214170981delT	ENST00000366958.4	+	2	1711	c.1103delT	c.(1102-1104)gcfs	p.V368fs	PROX1_ENST00000498508.2_Frame_Shift_Del_p.V368fs|PROX1_ENST00000261454.4_Frame_Shift_Del_p.V368fs|PROX1_ENST00000435016.1_Frame_Shift_Del_p.V368fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	368					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GACACTGTGGTCAAAGTCTTT	0.532													9	160	---	---	---	---					-	214170981	T	-	214170981	7	5	49	1	0	1	0	1	0	0	0	0	12640	1667	58	0	1105	0	PROX1	1	214170981	Frame_Shift_Del	DEL	T	TCGA-BB-8596-01A-11D-2394-08	6948205	214170981	35079640	10	9490											
OR2M4	26245	broad.mit.edu	37	chr1	248402920	248402920	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtcatccacatgggctcTggggaaagtcgtcgcaaggc	8	7	14	12	3	2	0	1	0	1	0	5	1	3	1	2	4	0	2	2	4	2	0			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr1:248402920T>C	ENST00000306687.1	+	1	690	c.690T>C	c.(688-690)tcT>tcC	p.S230S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACATGGGCTCTGGGGAAAGTC	0.488													21	89					0	0	0	0	C	248402920	T	C	248402920	2	2	49	1	0	0	0	0	0	0	0	1	11083	1567	55	5		5	OR2M4	1	248402920	Silent	SNP	T	TCGA-BB-8596-01A-11D-2394-08	34231939	248402920	847701	11	9491											
DHX57	90957	broad.mit.edu	37	chr2	39025462	39025462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattgtgtggtgacaagtttCacaattgtgctgatgatccg	9	15	11	6	1	1	3	1	3	0	0	2	3	2	3	1	1	1	2	1	1	3	4			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:39025462C>T	ENST00000295373.6	-	24	4266	c.4140G>A	c.(4138-4140)gtG>gtA	p.V1380V		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1380							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TGACAAGTTTCACAATTGTGC	0.448													10	111					0	0	0	0	T	39025462	C	T	39025462	2	4	49	1	0	0	0	0	0	0	0	1	4550	813	29	2		2	DHX57	2	39025462	Silent	SNP	C	TCGA-BB-8596-01A-11D-2394-08		39025462	204173911	12	9492											
VRK2	7444	broad.mit.edu	37	chr2	58362327	58362327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgggctccttctggaagCagttgctgtaagtcaaataa	13	11	10	7	0	2	0	1	0	1	0	3	1	3	1	1	2	2	5	1	2	5	4			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:58362327C>T	ENST00000435505.2	+	13	1594	c.849C>T	c.(847-849)agC>agT	p.S283S	VRK2_ENST00000417641.2_Silent_p.S283S|VRK2_ENST00000340157.4_Silent_p.S283S|VRK2_ENST00000412104.2_Silent_p.S283S|VRK2_ENST00000440705.2_Silent_p.S260S			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	283	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CTTCTGGAAGCAGTTGCTGTA	0.413													22	121					0	0	0	0	T	58362327	C	T	58362327	2	4	49	1	0	0	0	0	0	0	0	1	17316	709	25	4		4	VRK2	2	58362327	Silent	SNP	C	TCGA-BB-8596-01A-11D-2394-08	19336865	58362327	184837046	13	9493											
BUB1	699	broad.mit.edu	37	chr2	111419371	111419371	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actggaagacatggcgctctCagttcctgctgggagcctac	8	9	12	12	1	1	1	1	0	1	1	3	3	2	3	2	3	3	3	2	3	2	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:111419371C>G	ENST00000535254.1	-	9	1012	c.945G>C	c.(943-945)ctG>ctC	p.L315L	BUB1_ENST00000409311.1_Silent_p.L335L|BUB1_ENST00000302759.6_Silent_p.L335L	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	335					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATGGCGCTCTCAGTTCCTGCT	0.453													14	116					0	0	0	0	G	111419371	C	G	111419371	2	3	49	1	0	0	0	0	0	0	0	1	1579	813	29	2		2	BUB1	2	111419371	Silent	SNP	C	TCGA-BB-8596-01A-11D-2394-08	53057044	111419371	131780002	14	9494											
TTN	7273	broad.mit.edu	37	chr2	179455600	179455600	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactgttgctgcattttcAgtaatgtcagtaaccactgg	10	13	9	9	0	2	0	2	0	0	0	2	1	2	0	1	1	3	5	1	1	2	5			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:179455600A>G	ENST00000589042.1	-	304	61076	c.60852T>C	c.(60850-60852)acT>acC	p.T20284T	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.T11219T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T18643T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.T17716T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.T11411T|TTN_ENST00000359218.5_Silent_p.T11344T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18643	Ig-like 111.						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)			CTGCATTTTCAGTAATGTCAG	0.468													18	95					0	0	0	0	G	179455600	A	G	179455600	2	3	49	1	0	0	0	0	0	0	0	1	16831	175	7	5		5	TTN	2	179455600	Silent	SNP	A	TCGA-BB-8596-01A-11D-2394-08	68036229	179455600	63743773	15	9495											
TTN	7273	broad.mit.edu	37	chr2	179482515	179482515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgggcttaccaattggatCagcaactttgacgaagggtg	11	10	13	7	1	1	1	1	1	0	0	1	4	1	2	1	3	3	2	1	3	4	3			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:179482515C>T	ENST00000589042.1	-	253	47787	c.47563G>A	c.(47563-47565)Gat>Aat	p.D15855N	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D6790N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14214N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D13287N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6982N|TTN_ENST00000359218.5_Missense_Mutation_p.D6915N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14214	Fibronectin type-III 15.						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)			CCAATTGGATCAGCAACTTTG	0.383													19	75					0	0	0	0	T	179482515	C	T	179482515	3	4	49	1	0	0	0	0	1	0	0	0	16831	826	29	2	60570	2	TTN	2	179482515	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	26915	179482515	63716858	16	9496											
TTN	7273	broad.mit.edu	37	chr2	179483378	179483378	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgaagcacaattttatacctCcctttgtctcctttcttggc	7	17	5	12	0	2	1	0	1	2	0	4	1	3	1	3	1	2	1	3	1	4	6			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:179483378C>G	ENST00000589042.1	-	251	47123	c.46899G>C	c.(46897-46899)ggG>ggC	p.G15633G	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.G6568G|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.G13992G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.G13065G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G6760G|TTN_ENST00000359218.5_Silent_p.G6693G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13992	Ig-like 98.						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)			TTTTATACCTCCCTTTGTCTC	0.348													6	59					0	0	0	0	G	179483378	C	G	179483378	2	3	49	1	0	0	0	0	0	0	0	1	16831	842	30	2		2	TTN	2	179483378	Silent	SNP	C	TCGA-BB-8596-01A-11D-2394-08	863	179483378	63715995	17	9497											
TTN	7273	broad.mit.edu	37	chr2	179546391	179546391	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttttttcactctaccttTagccggtggggcctttggtt	3	19	10	9	1	2	0	1	0	1	0	2	0	2	0	3	4	2	2	3	4	2	8			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:179546391T>C	ENST00000589042.1	-	136	33393	c.33169A>G	c.(33169-33171)Aaa>Gaa	p.K11057E	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K10740E|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K9813E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10740	Glu-rich.|Pro-rich.						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)			ACTCTACCTTTAGCCGGTGGG	0.388													6	50					0	0	0	0	C	179546391	T	C	179546391	3	2	49	1	0	0	0	0	1	0	0	0	16831	1763	61	5	71268	5	TTN	2	179546391	Missense_Mutation	SNP	T	TCGA-BB-8596-01A-11D-2394-08	63013	179546391	63652982	18	9498											
AOX1	316	broad.mit.edu	37	chr2	201507423	201507423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcagaaccaaccttccaTccaacacagcttttcgtggg	11	9	7	14	1	0	1	0	0	0	1	3	1	2	1	4	1	5	2	4	1	3	3			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:201507423T>C	ENST00000374700.2	+	25	2987	c.2746T>C	c.(2746-2748)Tcc>Ccc	p.S916P	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	916					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CAACCTTCCATCCAACACAGC	0.493													11	73					0	0	0	0	C	201507423	T	C	201507423	3	2	49	1	0	0	0	0	1	0	0	0	730	1435	50	5	2844	5	AOX1	2	201507423	Missense_Mutation	SNP	T	TCGA-BB-8596-01A-11D-2394-08	21961032	201507423	41691950	19	9499											
NBEAL1	65065	broad.mit.edu	37	chr2	204039938	204039938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtactcactattcaaattCtgcgggggtcatgcactatc	9	13	9	10	1	4	0	3	0	1	0	5	0	4	0	0	3	3	2	0	3	4	5			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:204039938C>T	ENST00000449802.1	+	41	6638	c.6305C>T	c.(6304-6306)tCt>tTt	p.S2102F		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2102	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TATTCAAATTCTGCGGGGGTC	0.378													8	55					0	0	0	0	T	204039938	C	T	204039938	3	4	49	1	0	0	0	0	1	0	0	0	10258	913	32	2	6463	2	NBEAL1	2	204039938	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	2532515	204039938	39159435	20	9500											
ANO7	50636	broad.mit.edu	37	chr2	242163542	242163542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actggacacccttcacggttCccaaggccagccagctgcag	9	6	10	16	1	1	0	1	0	0	0	2	1	2	1	4	3	3	3	4	3	1	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr2:242163542C>T	ENST00000274979.8	+	25	2879	c.2776C>T	c.(2776-2778)Ccc>Tcc	p.P926S		NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	926						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTTCACGGTTCCCAAGGCCAG	0.647													11	79					0	0	0	0	T	242163542	C	T	242163542	3	4	49	1	0	0	0	0	1	0	0	0	701	855	30	2	2946	2	ANO7	2	242163542	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	38123604	242163542	1035831	21	9501											
CCDC36	339834	broad.mit.edu	37	chr3	49292911	49292911	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggccatccttgagatgaaGaaaagatttgaagctgtaag	15	9	11	6	0	0	5	0	3	0	3	1	6	1	5	2	1	1	2	2	1	5	3			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr3:49292911G>A	ENST00000438782.1	+	7	857	c.621G>A	c.(619-621)aaG>aaA	p.K207K	CCDC36_ENST00000452691.2_Silent_p.K207K|CCDC36_ENST00000296449.5_Silent_p.K207K			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	207										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TTGAGATGAAGAAAAGATTTG	0.393													15	61					0	0	0	0	A	49292911	G	A	49292911	2	1	49	1	0	0	0	0	0	0	0	1	2834	933	33	2		2	CCDC36	3	49292911	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08		49292911	148729519	22	9502											
CCDC36	339834	broad.mit.edu	37	chr3	49293706	49293706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcctagcagagctgaagaGattgatctcagtgcctccag	10	10	11	10	0	1	4	1	2	1	2	4	5	3	4	3	0	3	2	3	0	2	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr3:49293706G>A	ENST00000438782.1	+	8	1012	c.776G>A	c.(775-777)aGa>aAa	p.R259K	CCDC36_ENST00000452691.2_Missense_Mutation_p.R259K|CCDC36_ENST00000296449.5_Missense_Mutation_p.R259K			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	259										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		GAGCTGAAGAGATTGATCTCA	0.522													11	79					0	0	0	0	A	49293706	G	A	49293706	3	1	49	1	0	0	0	0	1	0	0	0	2834	942	33	2	802	2	CCDC36	3	49293706	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	795	49293706	148728724	23	9503											
RHOA	387	broad.mit.edu	37	chr3	49405953	49405953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgatcataatcttcctgcCcagctgtgtcccacaaagcc	9	9	8	15	1	2	0	1	0	1	0	4	1	4	0	4	1	3	1	4	1	2	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr3:49405953C>T	ENST00000418115.1	-	3	569	c.185G>A	c.(184-186)gGg>gAg	p.G62E	RHOA_ENST00000454011.2_Intron|RHOA_ENST00000422781.1_Missense_Mutation_p.G62E	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	62					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ATCTTCCTGCCCAGCTGTGTC	0.473													16	76					0	0	0	0	T	49405953	C	T	49405953	3	4	49	1	0	0	0	0	1	0	0	0	13414	623	22	4	408	4	RHOA	3	49405953	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	112247	49405953	148616477	24	9504											
APEH	327	broad.mit.edu	37	chr3	49716303	49716303	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagaacttctctgggatctActgcagccttctgcctttgg	7	13	10	11	0	3	1	0	0	3	1	4	3	3	2	2	2	5	1	2	2	2	4			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr3:49716303A>T	ENST00000296456.5	+	12	1479	c.1079A>T	c.(1078-1080)tAc>tTc	p.Y360F	APEH_ENST00000438011.1_Missense_Mutation_p.Y360F	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	360					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGGGATCTACTGCAGCCTT	0.567													20	102					0	0	0	0	T	49716303	A	T	49716303	3	4	49	1	0	0	0	0	1	0	0	0	769	391	14	5	1125	5	APEH	3	49716303	Missense_Mutation	SNP	A	TCGA-BB-8596-01A-11D-2394-08	310350	49716303	148306127	25	9505											
DZIP3	9666	broad.mit.edu	37	chr3	108355486	108355486	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttagtgggaaaaaatgtttGaaggaaggatgtacaggtga	15	11	14	1	0	0	2	0	2	0	0	0	5	0	5	0	4	1	2	0	4	7	4			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr3:108355486G>C	ENST00000361582.3	+	11	1172	c.942G>C	c.(940-942)ttG>ttC	p.L314F	DZIP3_ENST00000463306.1_Missense_Mutation_p.L314F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	314					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAAAATGTTTGAAGGAAGGAT	0.269													12	72					0	0	0	0	C	108355486	G	C	108355486	3	2	49	1	0	0	0	0	1	0	0	0	4901	1281	45	2	980	2	DZIP3	3	108355486	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	58639183	108355486	89666944	26	9506											
IL1RAP	3556	broad.mit.edu	37	chr3	190362143	190362143	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtttactggctagagatggtCctattttaccgggctcattt	7	16	10	8	1	1	1	1	0	0	1	2	2	2	1	2	3	2	3	2	3	4	7			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr3:190362143C>G	ENST00000412504.2	+	9	1410	c.1158C>G	c.(1156-1158)gtC>gtG	p.V386V	IL1RAP_ENST00000072516.3_Silent_p.V386V|IL1RAP_ENST00000439062.1_Silent_p.V386V|IL1RAP_ENST00000447382.1_Silent_p.V386V|IL1RAP_ENST00000443369.2_Silent_p.V386V|IL1RAP_ENST00000317757.3_Silent_p.V386V			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	386					inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TAGAGATGGTCCTATTTTACC	0.398													4	45					0	0	0	0	G	190362143	C	G	190362143	2	3	49	1	0	0	0	0	0	0	0	1	7713	842	30	2		2	IL1RAP	3	190362143	Silent	SNP	C	TCGA-BB-8596-01A-11D-2394-08	82006657	190362143	7660287	27	9507											
ATP13A3	79572	broad.mit.edu	37	chr3	194171001	194171001	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggtagaaaagatttcttcTatttctgaaattaaagaaag	16	14	7	4	1	3	4	0	1	3	3	4	4	3	4	0	1	0	1	0	1	8	6			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr3:194171001T>G	ENST00000439040.1	-	11	1634	c.843A>C	c.(841-843)atA>atC	p.I281I	ATP13A3_ENST00000256031.4_Silent_p.I281I			Q9H7F0	AT133_HUMAN	ATPase type 13A3	281					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AGATTTCTTCTATTTCTGAAA	0.338													5	28					0	0	0	0	G	194171001	T	G	194171001	2	3	49	1	0	0	0	0	0	0	0	1	1129	1512	53	5		5	ATP13A3	3	194171001	Silent	SNP	T	TCGA-BB-8596-01A-11D-2394-08	3808858	194171001	3851429	28	9508											
NDST3	9348	broad.mit.edu	37	chr4	119161817	119161817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggtatgccagccacatcGagagatggcttgtttatttc	8	13	12	8	1	0	1	0	0	0	1	2	3	0	1	2	3	2	3	2	3	2	5			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr4:119161817G>A	ENST00000296499.5	+	11	2660	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	753	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CAGCCACATCGAGAGATGGCT	0.473													6	51					0	0	0	0	A	119161817	G	A	119161817	3	1	49	1	0	0	0	0	1	0	0	0	10327	1059	37	1	2295	1	NDST3	4	119161817	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08		119161817	71992459	29	9509											
C5orf55	116349	broad.mit.edu	37	chr5	442703	442703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cccactggcattgttcccacGagggtgccaatgactgcgct	7	9	11	14	2	0	1	0	1	0	0	1	2	1	1	3	2	2	3	3	2	1	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr5:442703G>C	ENST00000408966.2	-	1	555	c.235C>G	c.(235-237)Cgt>Ggt	p.R79G		NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	79						extracellular region				large_intestine(1)|lung(2)	3						TTGTTCCCACGAGGGTGCCAA	0.612													56	176					0	0	0	0	C	442703	G	C	442703	3	2	49	1	0	0	0	0	1	0	0	0	2332	1058	37	3	128	3	C5orf55	5	442703	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08		442703	180472557	30	9510											
C6	729	broad.mit.edu	37	chr5	41159288	41159288	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattgcattctcgggttctCgatctcttataagtagcatc	8	17	7	9	2	3	0	0	0	3	0	7	1	3	0	0	1	2	4	0	1	4	7			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr5:41159288C>A	ENST00000263413.3	-	12	2016	c.1752G>T	c.(1750-1752)tcG>tcT	p.S584S	C6_ENST00000337836.5_Silent_p.S584S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	584	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTCGGGTTCTCGATCTCTTAT	0.498													37	69					1.90571e-15	2.07614e-15	1	0	A	41159288	C	A	41159288	2	1	49	1	0	0	0	0	0	0	0	1	2336	871	31	3		3	C6	5	41159288	Silent	SNP	C	TCGA-BB-8596-01A-11D-2394-08	40716585	41159288	139755972	31	9511											
MATR3	9782	broad.mit.edu	37	chr5	138661938	138661938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagttgcaaagaatactCattgcagcagccttcctcat	14	10	7	10	0	2	2	2	0	0	2	3	2	3	2	2	0	5	4	2	0	5	4			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr5:138661938C>A	ENST00000394800.2	+	18	3151	c.2602C>A	c.(2602-2604)Cat>Aat	p.H868N	MATR3_ENST00000504203.1_Missense_Mutation_p.H482N|MATR3_ENST00000503811.1_Missense_Mutation_p.H532N|MATR3_ENST00000510056.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.H820N|MATR3_ENST00000502929.1_Missense_Mutation_p.H868N|MATR3_ENST00000394805.3_Missense_Mutation_p.H820N|MATR3_ENST00000361059.2_Missense_Mutation_p.H820N|MATR3_ENST00000502499.1_Missense_Mutation_p.H482N			P43243	MATR3_HUMAN	matrin 3	820						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAAGAATACTCATTGCAGCAG	0.328													3	19					0.150653	0.150653	1	0	A	138661938	C	A	138661938	3	1	49	1	0	0	0	0	1	0	0	0	9406	826	29	2	2508	2	MATR3	5	138661938	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	97502650	138661938	42253322	32	9512											
FAM71B	153745	broad.mit.edu	37	chr5	156590665	156590665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccttctctgtggagctctGcagcctataccaaggggaag	8	9	11	13	0	2	0	0	0	2	0	3	2	2	2	4	3	4	2	4	3	4	3			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr5:156590665G>T	ENST00000302938.4	-	2	706	c.611C>A	c.(610-612)gCa>gAa	p.A204E		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	204						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGAGCTCTGCAGCCTATAC	0.493													11	72					0.00829132	0.00841694	1	0	T	156590665	G	T	156590665	3	4	49	1	0	0	0	0	1	0	0	0	5654	1319	46	4	1210	4	FAM71B	5	156590665	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	17928727	156590665	24324595	33	9513											
SERPINB1	1992	broad.mit.edu	37	chr6	2833940	2833940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcagtgaaattttcttcggGcatcaacatgcagaaagttg	12	11	11	7	1	2	2	1	1	1	1	3	2	2	2	0	2	2	4	0	2	3	4			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:2833940G>A	ENST00000380739.5	-	7	1244	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	SERPINB1_ENST00000537185.1_Missense_Mutation_p.P197S			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	348					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TTTTCTTCGGGCATCAACATG	0.443													8	46					0	0	0	0	A	2833940	G	A	2833940	3	1	49	1	0	0	0	0	1	0	0	0	14183	1203	42	4	101	4	SERPINB1	6	2833940	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08		2833940	168281127	34	9514											
OR2B3	442184	broad.mit.edu	37	chr6	29054606	29054606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggctgccatccttaggcaGaaccaataattcatgatgac	14	9	8	10	0	1	3	1	2	0	1	2	3	2	3	3	2	2	2	3	2	5	3			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:29054606G>A	ENST00000377173.2	-	1	484	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TCCTTAGGCAGAACCAATAAT	0.488													17	59					0	0	0	0	A	29054606	G	A	29054606	2	1	49	1	0	0	0	0	0	0	0	1	11061	933	33	2		2	OR2B3	6	29054606	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08	26220666	29054606	142060461	35	9515											
BRPF3	27154	broad.mit.edu	37	chr6	36168560	36168560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggatgcagaggtagagtAtgacatggatgaggaggacc	12	7	16	6	0	0	4	0	2	0	2	0	8	0	8	2	5	1	3	2	5	2	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:36168560A>G	ENST00000357641.6	+	2	714	c.461A>G	c.(460-462)tAt>tGt	p.Y154C	BRPF3_ENST00000339717.7_Missense_Mutation_p.Y154C|BRPF3_ENST00000543502.1_Missense_Mutation_p.Y154C|BRPF3_ENST00000534694.1_Missense_Mutation_p.Y154C|BRPF3_ENST00000443324.2_Missense_Mutation_p.Y154C|BRPF3_ENST00000534400.1_Missense_Mutation_p.Y154C	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	154					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GAGGTAGAGTATGACATGGAT	0.547													14	58					0	0	0	0	G	36168560	A	G	36168560	3	3	49	1	0	0	0	0	1	0	0	0	1529	449	16	5	463	5	BRPF3	6	36168560	Missense_Mutation	SNP	A	TCGA-BB-8596-01A-11D-2394-08	7113954	36168560	134946507	36	9516											
DNAH8	1769	broad.mit.edu	37	chr6	38905899	38905899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggcccgcagccacccgcGgaagcatcctctacttcctc	6	7	8	20	4	1	0	0	0	1	0	5	1	4	1	6	2	3	2	6	2	2	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:38905899G>A	ENST00000359357.3	+	76	11316	c.11062G>A	c.(11062-11064)Gga>Aga	p.G3688R	DNAH8_ENST00000441566.1_Missense_Mutation_p.G3652R|DNAH8_ENST00000449981.2_Missense_Mutation_p.G3905R|RP1-207H1.3_ENST00000416948.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGCCACCCGCGGAAGCATCCT	0.522													12	64					0	0	0	0	A	38905899	G	A	38905899	3	1	49	1	0	0	0	0	1	0	0	0	4643	1117	39	1	11356	1	DNAH8	6	38905899	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	2737339	38905899	132209168	37	9517											
RUNX2	860	broad.mit.edu	37	chr6	45480097	45480097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccccgctgtcttccacacGgggcactgggcttcctgcca	5	8	10	18	2	1	0	0	0	1	0	3	0	3	0	5	3	1	3	5	3	0	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:45480097G>A	ENST00000371438.1	+	6	1332	c.974G>A	c.(973-975)cGg>cAg	p.R325Q	RUNX2_ENST00000371436.6_Missense_Mutation_p.R325Q|RUNX2_ENST00000465038.2_Missense_Mutation_p.R325Q|RUNX2_ENST00000371432.3_Missense_Mutation_p.R311Q|RUNX2_ENST00000541979.1_Missense_Mutation_p.R393Q|RUNX2_ENST00000576263.1_Missense_Mutation_p.R325Q|RUNX2_ENST00000352853.5_Missense_Mutation_p.R393Q|RUNX2_ENST00000359524.5_Missense_Mutation_p.R311Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	325	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCTTCCACACGGGGCACTGGG	0.592													20	100					0	0	0	0	A	45480097	G	A	45480097	3	1	49	1	0	0	0	0	1	0	0	0	13833	1116	39	1	1012	1	RUNX2	6	45480097	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	6574198	45480097	125634970	38	9518											
FILIP1	27145	broad.mit.edu	37	chr6	76022592	76022592	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtcttctctctggaaaAtgtagtaattgtgactgggg	9	14	13	5	0	3	1	0	1	3	0	4	3	3	3	0	4	0	2	0	4	4	4			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:76022592A>C	ENST00000393004.2	-	5	3177	c.2956T>G	c.(2956-2958)Ttt>Gtt	p.F986V	FILIP1_ENST00000370020.1_Missense_Mutation_p.F887V|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.F986V			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	986										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTCTGGAAAATGTAGTAATT	0.463													22	94					0	0	0	0	C	76022592	A	C	76022592	3	2	49	1	0	0	0	0	1	0	0	0	5939	101	4	5	693	5	FILIP1	6	76022592	Missense_Mutation	SNP	A	TCGA-BB-8596-01A-11D-2394-08	30542495	76022592	95092475	39	9519											
GABRR1	2569	broad.mit.edu	37	chr6	89888658	89888658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccagggtcagctgcaccAtcatcctgtcgggcttctct	6	10	11	14	1	3	0	2	0	1	0	6	0	4	0	3	3	2	3	3	3	0	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:89888658A>G	ENST00000435811.1	-	9	1674	c.1220T>C	c.(1219-1221)aTg>aCg	p.M407T	GABRR1_ENST00000369451.3_Missense_Mutation_p.M337T|GABRR1_ENST00000454853.2_Missense_Mutation_p.M424T	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	424					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	CAGCTGCACCATCATCCTGTC	0.557													18	113					0	0	0	0	G	89888658	A	G	89888658	3	3	49	1	0	0	0	0	1	0	0	0	6224	217	8	5	172	5	GABRR1	6	89888658	Missense_Mutation	SNP	A	TCGA-BB-8596-01A-11D-2394-08	13866066	89888658	81226409	40	9520											
KIAA0408	9729	broad.mit.edu	37	chr6	127767648	127767648	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttccatttggagcatttCtaaatgctgacttaatgtgg	9	17	9	6	0	1	1	0	1	1	0	2	2	2	2	1	2	2	3	1	2	3	6			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:127767648C>G	ENST00000483725.3	-	5	2152	c.1816G>C	c.(1816-1818)Gaa>Caa	p.E606Q	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	606							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TGGAGCATTTCTAAATGCTGA	0.428													31	176					0	0	0	0	G	127767648	C	G	127767648	3	3	49	1	0	0	0	0	1	0	0	0	8225	922	32	2	276	2	KIAA0408	6	127767648	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	37878990	127767648	43347419	41	9521											
PTPRK	5796	broad.mit.edu	37	chr6	128563725	128563725	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tataaccacttctccctcctGagacttcagcttcaaatatt	11	14	3	13	0	3	1	2	1	1	1	5	2	4	1	3	0	2	1	3	0	4	7			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:128563725G>C	ENST00000368227.3	-	4	884	c.518C>G	c.(517-519)tCa>tGa	p.S173*	PTPRK_ENST00000532331.1_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368215.3_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.S173*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.S173*			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	173	MAM.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCTCCCTCCTGAGACTTCAGC	0.343													7	26					0	0	0	0	C	128563725	G	C	128563725	4	2	49	1	0	0	0	0	0	1	0	0	12887	1294	45	2	3934	2	PTPRK	6	128563725	Nonsense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	796077	128563725	42551342	42	9522											
LAMA2	3908	broad.mit.edu	37	chr6	129691085	129691085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggcttattcagctggcaGagggcaatctgaatacactc	12	9	11	9	0	2	3	1	1	1	2	3	3	2	3	0	3	2	4	0	3	4	3	rs138303386	byFrequency	TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr6:129691085G>C	ENST00000421865.2	+	34	4958	c.4909G>C	c.(4909-4911)Gag>Cag	p.E1637Q		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1637	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.E1637K(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCAGCTGGCAGAGGGCAATCT	0.448													11	73					0	0	0	0	C	129691085	G	C	129691085	3	2	49	1	0	0	0	0	1	0	0	0	8659	943	33	2	5043	2	LAMA2	6	129691085	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	1127360	129691085	41423982	43	9523											
EGFR	1956	broad.mit.edu	37	chr7	55229200	55229200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctccgcagaggccacaGgccaggtctgccatgccttg	6	8	12	15	1	2	1	0	0	2	1	3	1	2	1	5	3	2	1	5	3	0	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr7:55229200G>A	ENST00000275493.2	+	13	1684	c.1507G>A	c.(1507-1509)Ggc>Agc	p.G503S	EGFR_ENST00000344576.2_Missense_Mutation_p.G503S|EGFR_ENST00000442591.1_Missense_Mutation_p.G503S|EGFR_ENST00000342916.3_Missense_Mutation_p.G503S|EGFR_ENST00000454757.2_Missense_Mutation_p.G450S|EGFR_ENST00000455089.1_Missense_Mutation_p.G458S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	503					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGAGGCCACAGGCCAGGTCTG	0.692		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			17	90					0	0	0	0	A	55229200	G	A	55229200	3	1	49	1	0	0	0	0	1	0	0	0	5003	1000	35	4	1568	4	EGFR	7	55229200	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08		55229200	103909463	44	9524											
CCDC146	57639	broad.mit.edu	37	chr7	76871152	76871152	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatgagagaacaacttctCaagtatcaaaatgaatataa	22	9	5	5	0	2	3	2	2	1	1	3	4	2	3	0	0	2	1	0	0	11	4			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr7:76871152C>G	ENST00000285871.4	+	4	511	c.384C>G	c.(382-384)ctC>ctG	p.L128L	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	128										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AACAACTTCTCAAGTATCAAA	0.403													22	63					0	0	0	0	G	76871152	C	G	76871152	2	3	49	1	0	0	0	0	0	0	0	1	2805	813	29	2		2	CCDC146	7	76871152	Silent	SNP	C	TCGA-BB-8596-01A-11D-2394-08	21641952	76871152	82267511	45	9525											
COPS6	10980	broad.mit.edu	37	chr7	99689087	99689087	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgcgggaggcctatgctCtgtgtcactgtctcccggtg	3	12	13	13	2	3	0	1	0	2	0	5	1	4	1	3	3	2	1	3	3	1	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr7:99689087C>G	ENST00000303904.3	+	9	824	c.787C>G	c.(787-789)Ctg>Gtg	p.L263V	COPS6_ENST00000418625.1_Missense_Mutation_p.L262V	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	263	Interaction with Vpr.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGCCTATGCTCTGTGTCACTG	0.507													33	130					0	0	0	0	G	99689087	C	G	99689087	3	3	49	1	0	0	0	0	1	0	0	0	3767	912	32	2	821	2	COPS6	7	99689087	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	22817935	99689087	59449576	46	9526											
MUC17	140453	broad.mit.edu	37	chr7	100676068	100676068	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactccattaacaagtatGcctgtcagcaccactccagt	12	9	6	14	0	1	0	1	0	0	0	3	0	3	0	4	0	4	3	4	0	3	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr7:100676068G>C	ENST00000306151.4	+	3	1435	c.1371G>C	c.(1369-1371)atG>atC	p.M457I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	457	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAACAAGTATGCCTGTCAGCA	0.493													115	518					0	0	0	0	C	100676068	G	C	100676068	3	2	49	1	0	0	0	0	1	0	0	0	10044	1319	46	4	1381	4	MUC17	7	100676068	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	986981	100676068	58462595	47	9527											
WDR60	55112	broad.mit.edu	37	chr7	158695177	158695177	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagctcaaaaaaaggaaatAcaagaaattcaaagagctat	22	7	6	6	0	2	2	2	0	0	2	2	3	2	3	0	1	3	2	0	1	10	4			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr7:158695177A>G	ENST00000407559.3	+	10	1406	c.1248A>G	c.(1246-1248)atA>atG	p.I416M		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	416										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAAGGAAATACAAGAAATTC	0.363													18	55					0	0	0	0	G	158695177	A	G	158695177	3	3	49	1	0	0	0	0	1	0	0	0	17407	381	14	5	1286	5	WDR60	7	158695177	Missense_Mutation	SNP	A	TCGA-BB-8596-01A-11D-2394-08	58019109	158695177	443486	48	9528											
USP17L2	377630	broad.mit.edu	37	chr8	11995295	11995295	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgacaactccacccagcGtggaccagcacagcatagag	12	5	10	14	2	0	2	0	1	0	1	2	3	1	3	3	1	4	2	3	1	2	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr8:11995295G>A	ENST00000333796.3	-	1	1291	c.975C>T	c.(973-975)caC>caT	p.H325H	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	325					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TCCACCCAGCGTGGACCAGCA	0.488													6	101					0	0	0	0	A	11995295	G	A	11995295	2	1	49	1	0	0	0	0	0	0	0	1	17144	1136	40	1		1	USP17L2	8	11995295	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08		11995295	134368727	49	9529											
PIWIL2	55124	broad.mit.edu	37	chr8	22213004	22213004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccagctgtgcgagaacCtgttcttcctgtgactgcac	7	11	9	14	1	1	2	0	1	1	1	3	3	3	2	4	0	4	3	4	0	1	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr8:22213004C>G	ENST00000356766.6	+	23	3056	c.2908C>G	c.(2908-2910)Ctg>Gtg	p.L970V	PIWIL2_ENST00000454009.2_Missense_Mutation_p.L970V|PIWIL2_ENST00000521356.1_Missense_Mutation_p.L934V	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	970					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GTGCGAGAACCTGTTCTTCCT	0.517													10	40					0	0	0	0	G	22213004	C	G	22213004	3	3	49	1	0	0	0	0	1	0	0	0	12030	680	24	4	2994	4	PIWIL2	8	22213004	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	10217709	22213004	124151018	50	9530											
GTF2E2	2961	broad.mit.edu	37	chr8	30472202	30472202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaatttcatctaaggttaGaggatgcgtatctcctcgct	11	13	8	9	2	3	1	1	0	2	1	5	2	3	2	1	2	1	3	1	2	5	4			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr8:30472202G>A	ENST00000355904.4	-	4	571	c.289C>T	c.(289-291)Cta>Tta	p.L97L		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	97					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TCTAAGGTTAGAGGATGCGTA	0.343													8	41					0	0	0	0	A	30472202	G	A	30472202	2	1	49	1	0	0	0	0	0	0	0	1	6907	933	33	2		2	GTF2E2	8	30472202	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08	8259198	30472202	115891820	51	9531											
CA3	761	broad.mit.edu	37	chr8	86360302	86360302	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctccagtgctgagaacGagcccccagtgcctcttgtg	6	10	10	15	1	2	1	0	1	2	1	4	3	3	1	5	0	4	1	5	0	1	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr8:86360302G>T	ENST00000285381.2	+	7	786	c.703G>T	c.(703-705)Gag>Tag	p.E235*	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	235					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGCTGAGAACGAGCCCCCAGT	0.557													7	45					8.12818e-05	8.31433e-05	1	0	T	86360302	G	T	86360302	4	4	49	1	0	0	0	0	0	1	0	0	2542	1059	37	3	729	3	CA3	8	86360302	Nonsense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	55888100	86360302	60003720	52	9532											
ENPP2	5168	broad.mit.edu	37	chr8	120650707	120650707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccttctgctctcttaattcGatgtgcagtgaatcctaagc	8	15	7	11	1	2	1	0	1	2	0	6	2	4	1	2	0	3	2	2	0	3	4	rs138726849		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr8:120650707G>C	ENST00000427067.2	-	2	262	c.82C>G	c.(82-84)Cga>Gga	p.R28G	ENPP2_ENST00000259486.6_Missense_Mutation_p.R32G|ENPP2_ENST00000075322.6_Missense_Mutation_p.R32G|ENPP2_ENST00000522826.1_Missense_Mutation_p.R32G			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	32					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTCTTAATTCGATGTGCAGTG	0.373													22	125					0	0	0	0	C	120650707	G	C	120650707	3	2	49	1	0	0	0	0	1	0	0	0	5168	1066	37	3	2832	3	ENPP2	8	120650707	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	34290405	120650707	25713315	53	9533											
KIAA0196	9897	broad.mit.edu	37	chr8	126087290	126087290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attatttaaagcagtttttgCagctttgtaaggttcccaag	11	16	8	6	0	0	0	0	0	0	0	1	0	1	0	1	1	3	6	1	1	5	8			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr8:126087290C>T	ENST00000318410.7	-	8	1277	c.928G>A	c.(928-930)Gca>Aca	p.A310T	KIAA0196_ENST00000517845.1_Missense_Mutation_p.A162T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	310					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GCAGTTTTTGCAGCTTTGTAA	0.378													6	77					0	0	0	0	T	126087290	C	T	126087290	3	4	49	1	0	0	0	0	1	0	0	0	8212	710	25	4	2639	4	KIAA0196	8	126087290	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	5436583	126087290	20276732	54	9534											
PTK2	5747	broad.mit.edu	37	chr8	141685543	141685543	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaacttctttccgcccaaTtcttttcttctttacctggt	6	19	3	13	1	4	0	0	0	4	0	5	0	5	0	3	1	2	0	3	1	3	9			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr8:141685543T>A	ENST00000395218.2	-	28	2847	c.2618A>T	c.(2617-2619)aAt>aTt	p.N873I	PTK2_ENST00000535192.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000519465.1_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000430260.2_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000340930.3_Missense_Mutation_p.N873I|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000517887.1_Intron			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	867	Interaction with TGFB1I1.|Pro-rich.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTCCGCCCAATTCTTTTCTTC	0.363													4	23					0	0	0	0	A	141685543	T	A	141685543	3	1	49	1	0	0	0	0	1	0	0	0	12842	1508	52	5		5	PTK2	8	141685543	Missense_Mutation	SNP	T	TCGA-BB-8596-01A-11D-2394-08	15598253	141685543	4678479	55	9535											
OR13C3	138803	broad.mit.edu	37	chr9	107298658	107298658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacgatcaaatgccatcatgCcaagaagcagacattctgtt	15	9	7	10	1	3	2	2	0	1	2	3	3	3	2	2	0	4	2	2	0	4	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr9:107298658C>T	ENST00000374781.2	-	1	479	c.437G>A	c.(436-438)gGc>gAc	p.G146D		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	146					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						TGCCATCATGCCAAGAAGCAG	0.463													32	203					0	0	0	0	T	107298658	C	T	107298658	3	4	49	1	0	0	0	0	1	0	0	0	11006	739	26	4	610	4	OR13C3	9	107298658	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08		107298658	33914773	56	9536											
NOTCH1	4851	broad.mit.edu	37	chr9	139404312	139404312	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggtcactggcacactCgttgatgtcctcctcacaga	8	9	11	13	1	2	2	2	1	0	1	5	2	4	2	2	3	0	3	2	3	0	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr9:139404312C>A	ENST00000277541.6	-	18	2917	c.2842G>T	c.(2842-2844)Gag>Tag	p.E948*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	948	EGF-like 25; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.E948*(1)|p.E949*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGCACACTCGTTGATGTCC	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			51	115					1.86277e-20	2.04599e-20	1	0	A	139404312	C	A	139404312	4	1	49	1	0	0	0	0	0	1	0	0	10617	893	31	3	4893	3	NOTCH1	9	139404312	Nonsense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	32105654	139404312	1809119	57	9537											
TYSND1	219743	broad.mit.edu	37	chr10	71903626	71903626	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtgctcagcgggcacaggGatggggacatcatccaggtc	10	6	15	10	1	2	0	2	0	0	0	4	2	3	2	1	5	2	2	1	5	1	0			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr10:71903626G>T	ENST00000287078.6	-	2	1268	c.1269C>A	c.(1267-1269)atC>atA	p.I423I	TYSND1_ENST00000335494.5_Intron|TYSND1_ENST00000494143.1_5'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	423	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CGGGCACAGGGATGGGGACAT	0.592													7	36					2.7689e-08	2.92151e-08	1	0	T	71903626	G	T	71903626	2	4	49	1	0	0	0	0	0	0	0	1	16913	1164	41	2		2	TYSND1	10	71903626	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08		71903626	63631121	58	9538											
PWWP2B	170394	broad.mit.edu	37	chr10	134230574	134230574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcccccaaggtcaccgacGatgagggcgcacctgctgtc	7	8	11	15	3	1	1	1	1	0	0	3	3	2	1	4	2	1	2	4	2	1	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr10:134230574G>A	ENST00000368609.4	+	3	1525	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	PWWP2B_ENST00000305233.5_3'UTR	NM_001098637.1	NP_001092107.1	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	0	PWWP.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGTCACCGACGATGAGGGCGC	0.632													69	364					0	0	0	0	A	134230574	G	A	134230574	3	1	49	1	0	0	0	0	1	0	0	0	12928	1058	37	1	1793	1	PWWP2B	10	134230574	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	62326948	134230574	1304173	59	9539											
OR5M3	219482	broad.mit.edu	37	chr11	56237425	56237425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccagcacaggccattttGatgagaggtggatctgcaca	10	9	12	10	0	1	2	0	2	1	1	2	4	2	3	2	3	2	2	2	3	0	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr11:56237425G>A	ENST00000312240.2	-	1	589	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGGCCATTTTGATGAGAGGTG	0.403													10	176					0	0	0	0	A	56237425	G	A	56237425	2	1	49	1	0	0	0	0	0	0	0	1	11246	1280	45	2		2	OR5M3	11	56237425	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08		56237425	78769091	60	9540											
NDUFS8	4728	broad.mit.edu	37	chr11	67800624	67800624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccgggaaccggccaccatCaactacccgttcgagaaggg	10	6	11	14	4	1	1	1	0	0	1	3	3	2	2	5	3	3	1	5	3	4	3			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr11:67800624C>G	ENST00000313468.5	+	5	353	c.246C>G	c.(244-246)atC>atG	p.I82M	NDUFS8_ENST00000528492.1_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	82					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	CGGCCACCATCAACTACCCGT	0.682													4	33					0	0	0	0	G	67800624	C	G	67800624	3	3	49	1	0	0	0	0	1	0	0	0	10368	816	29	2	260	2	NDUFS8	11	67800624	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	11563199	67800624	67205892	61	9541											
NUMA1	4926	broad.mit.edu	37	chr11	71725814	71725814	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgggccacctctttgctgGtggcagccatcttttcctgc	4	12	11	14	1	2	0	0	0	2	0	3	0	3	0	4	3	4	2	4	3	0	3			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr11:71725814G>C	ENST00000393695.3	-	15	3066	c.2735C>G	c.(2734-2736)aCc>aGc	p.T912S	NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.T912S	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	912					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTCTTTGCTGGTGGCAGCCAT	0.607			T	RARA	APL								118	111					0	0	0	0	C	71725814	G	C	71725814	3	2	49	1	0	0	0	0	1	0	0	0	10821	1261	44	4	3664	4	NUMA1	11	71725814	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	3925190	71725814	63280702	62	9542											
FZD4	8322	broad.mit.edu	37	chr11	86666010	86666010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgcagcgccgctcttcctCgtccccgaagccccgcgccg	3	6	11	21	8	1	0	0	0	1	0	5	1	3	0	7	0	2	2	7	0	1	1	rs139401671	byFrequency	TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr11:86666010C>T	ENST00000531380.1	-	1	423	c.118G>A	c.(118-120)Gag>Aag	p.E40K		NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	40	FZ.		E -> Q (in EVR1).		canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGCTCTTCCTCGTCCCCGAAG	0.697													4	45					0	0	0	0	T	86666010	C	T	86666010	3	4	49	1	0	0	0	0	1	0	0	0	6180	893	31	1	1503	1	FZD4	11	86666010	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	14940196	86666010	48340506	63	9543											
AMOTL1	154810	broad.mit.edu	37	chr11	94554915	94554915	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccagcaaatggtggagatAttaacagaggagaaccgggt	14	6	14	7	1	0	3	0	0	0	3	0	5	0	3	2	4	3	1	2	4	4	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr11:94554915A>G	ENST00000433060.2	+	4	1482	c.1341A>G	c.(1339-1341)atA>atG	p.I447M	AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.I397M	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	447						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TGGTGGAGATATTAACAGAGG	0.602													9	87					0	0	0	0	G	94554915	A	G	94554915	3	3	49	1	0	0	0	0	1	0	0	0	583	439	16	5	1355	5	AMOTL1	11	94554915	Missense_Mutation	SNP	A	TCGA-BB-8596-01A-11D-2394-08	7888905	94554915	40451601	64	9544											
RDX	5962	broad.mit.edu	37	chr11	110102759	110102759	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaattctgaacttaatgcCtatttaaaaaataaaaagta	19	13	4	5	0	1	1	0	1	1	0	1	1	1	1	1	0	2	2	1	0	11	8			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr11:110102759C>T	ENST00000343115.4	-	14	1907		c.e14-1		RDX_ENST00000528498.1_Splice_Site|RDX_ENST00000405097.1_Splice_Site|RDX_ENST00000544551.1_Splice_Site|RDX_ENST00000528900.1_Splice_Site|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin						actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		AACTTAATGCCtatttaaaaa	0.279													17	96					0	0	0	0	T	110102759	C	T	110102759	5	4	49	1	0	0	0	0	0	0	1	0	13280	695	24	4	168	4	RDX	11	110102759	Splice_Site	SNP	C	TCGA-BB-8596-01A-11D-2394-08	15547844	110102759	24903757	65	9545											
CLDN25	644672	broad.mit.edu	37	chr11	113650687	113650687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgggaggtctgcgtggatcGagaggaagtcgccactgtgt	7	10	17	7	3	1	1	0	0	1	1	3	5	1	4	1	4	1	0	1	4	1	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr11:113650687G>A	ENST00000453129.2	+	1	219	c.170G>A	c.(169-171)cGa>cAa	p.R57Q		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	57						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TGCGTGGATCGAGAGGAAGTC	0.562													13	150					0	0	0	0	A	113650687	G	A	113650687	3	1	49	1	0	0	0	0	1	0	0	0	3515	1058	37	1	172	1	CLDN25	11	113650687	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	3547928	113650687	21355829	66	9546											
LRRC23	10233	broad.mit.edu	37	chr12	7014828	7014828	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatgatctagaagactctGagccagaccaggatgattct	14	9	10	8	0	3	7	0	3	3	4	3	8	3	8	2	1	1	0	2	1	3	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr12:7014828G>C	ENST00000007969.8	+	2	251	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000323702.5_Missense_Mutation_p.E11Q|LRRC23_ENST00000429740.1_Missense_Mutation_p.E11Q|LRRC23_ENST00000433346.1_Missense_Mutation_p.E11Q|LRRC23_ENST00000436789.1_Missense_Mutation_p.E11Q|LRRC23_ENST00000443597.2_Missense_Mutation_p.E11Q	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	11										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AGAAGACTCTGAGCCAGACCA	0.488													14	73					0	0	0	0	C	7014828	G	C	7014828	3	2	49	1	0	0	0	0	1	0	0	0	9042	1291	45	2	33	2	LRRC23	12	7014828	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08		7014828	126837067	67	9547											
CCDC91	55297	broad.mit.edu	37	chr12	28702043	28702043	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgtccagtttggaactgttCctctcctgtgcacagaaaca	9	12	8	12	0	1	1	0	0	1	1	4	2	3	2	3	1	3	3	3	1	2	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr12:28702043C>G	ENST00000545336.1	+	16	1682	c.1263C>G	c.(1261-1263)ttC>ttG	p.F421L	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.F385L|CCDC91_ENST00000539107.1_Missense_Mutation_p.F385L|CCDC91_ENST00000306172.5_Missense_Mutation_p.F391L|CCDC91_ENST00000381259.1_Missense_Mutation_p.F421L			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	421					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TGGAACTGTTCCTCTCCTGTG	0.378													18	139					0	0	0	0	G	28702043	C	G	28702043	3	3	49	1	0	0	0	0	1	0	0	0	2897	854	30	2	1309	2	CCDC91	12	28702043	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	21687215	28702043	105149852	68	9548											
KRT85	3891	broad.mit.edu	37	chr12	52760958	52760958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcggtagccgaagctgcGtccgcaggagccggctcgga	7	4	18	12	6	0	0	0	0	0	0	2	4	1	3	3	5	5	4	3	5	2	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr12:52760958G>A	ENST00000257901.3	-	1	307	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	78	Head.		R -> H (in EDPHN; dbSNP:rs61630004).		epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGAAGCTGCGTCCGCAGGAG	0.697													8	89					0	0	0	0	A	52760958	G	A	52760958	3	1	49	1	0	0	0	0	1	0	0	0	8551	1145	40	1	1327	1	KRT85	12	52760958	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	24058915	52760958	81090937	69	9549											
HOXC8	3224	broad.mit.edu	37	chr12	54403466	54403466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccacttaaatcaaaactCgtctcccagcctcatgtttc	11	11	5	14	1	3	0	2	0	1	0	6	0	3	0	3	1	2	1	3	1	4	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr12:54403466C>T	ENST00000040584.4	+	1	635	c.398C>T	c.(397-399)tCg>tTg	p.S133L		NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	133						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						AATCAAAACTCGTCTCCCAGC	0.557													13	208					0	0	0	0	T	54403466	C	T	54403466	3	4	49	1	0	0	0	0	1	0	0	0	7366	893	31	1	400	1	HOXC8	12	54403466	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	1642508	54403466	79448429	70	9550											
PITPNM2	57605	broad.mit.edu	37	chr12	123481122	123481122	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgcagtccccaatcaggcaGaccttgggagagaggggcca	11	4	14	12	1	1	2	1	0	0	2	2	4	2	3	4	4	0	2	4	4	1	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr12:123481122G>A	ENST00000280562.5	-	12	1870	c.1665C>T	c.(1663-1665)gtC>gtT	p.V555V	PITPNM2_ENST00000392428.1_Silent_p.V276V|PITPNM2_ENST00000542749.1_Silent_p.V555V|PITPNM2_ENST00000320201.4_Silent_p.V555V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	555					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CAATCAGGCAGACCTTGGGAG	0.657													6	71					0	0	0	0	A	123481122	G	A	123481122	2	1	49	1	0	0	0	0	0	0	0	1	12023	929	33	2		2	PITPNM2	12	123481122	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08	69077656	123481122	10370773	71	9551											
OR4K5	79317	broad.mit.edu	37	chr14	20389482	20389482	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcaaaggcattttctacGctggcttcccatattgcagt	9	13	9	10	1	1	0	0	0	1	0	2	0	2	0	1	3	2	5	1	3	3	6	rs137857056		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr14:20389482G>T	ENST00000315915.4	+	1	742	c.717G>T	c.(715-717)acG>acT	p.T239T		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTTTCTACGCTGGCTTCCC	0.413													25	154					6.32553e-13	6.78097e-13	1	0	T	20389482	G	T	20389482	2	4	49	1	0	0	0	0	0	0	0	1	11144	1074	38	3		3	OR4K5	14	20389482	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08		20389482	86960058	72	9552											
INF2	64423	broad.mit.edu	37	chr14	105174314	105174314	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagaagctgaactggcaGaagctgccatccaacgtggc	13	6	12	10	1	0	4	0	2	0	2	1	4	1	4	2	2	5	3	2	2	5	0			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr14:105174314G>A	ENST00000392634.4	+	8	1822	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	INF2_ENST00000330634.7_Silent_p.Q570Q	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	570	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGAACTGGCAGAAGCTGCCAT	0.652													10	55					0	0	0	0	A	105174314	G	A	105174314	2	1	49	1	0	0	0	0	0	0	0	1	7787	933	33	2		2	INF2	14	105174314	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08	84784832	105174314	2175226	73	9553											
MGA	23269	broad.mit.edu	37	chr15	42041118	42041118	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttacagcctgtcatgtttcgGaacccaggtataaagttctt	10	14	8	9	1	2	0	1	0	1	0	3	1	2	1	2	2	3	3	2	2	5	6			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr15:42041118G>A	ENST00000219905.7	+	16	5677	c.5496G>A	c.(5494-5496)cgG>cgA	p.R1832R	MGA_ENST00000570161.1_Silent_p.R1832R|MGA_ENST00000389936.4_Silent_p.R1793R|MGA_ENST00000566586.1_Silent_p.R1623R|MGA_ENST00000545763.1_Silent_p.R1623R	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1793						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCATGTTTCGGAACCCAGGTA	0.398													11	67					0	0	0	0	A	42041118	G	A	42041118	2	1	49	1	0	0	0	0	0	0	0	1	9609	1161	41	2		2	MGA	15	42041118	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08		42041118	60490274	74	9554											
MGA	23269	broad.mit.edu	37	chr15	42041778	42041778	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagagagcaagaaacgaaGaaggttctacagtcagaagg	20	4	12	5	1	2	4	1	0	1	4	2	6	2	4	0	2	3	2	0	2	8	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr15:42041778G>A	ENST00000219905.7	+	17	6154	c.5973G>A	c.(5971-5973)aaG>aaA	p.K1991K	MGA_ENST00000570161.1_Silent_p.K1991K|MGA_ENST00000389936.4_Silent_p.K1952K|MGA_ENST00000566586.1_Silent_p.K1782K|MGA_ENST00000545763.1_Silent_p.K1782K	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1952						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAGAAACGAAGAAGGTTCTAC	0.413													10	79					0	0	0	0	A	42041778	G	A	42041778	2	1	49	1	0	0	0	0	0	0	0	1	9609	933	33	2		2	MGA	15	42041778	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08	660	42041778	60489614	75	9555											
ATP8B4	79895	broad.mit.edu	37	chr15	50330967	50330967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaatgtatttcttacttGctgttgatgagcacttcaga	11	15	8	7	0	2	4	1	2	1	2	2	4	2	4	0	0	3	4	0	0	3	6			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr15:50330967G>T	ENST00000284509.6	-	6	501	c.360C>A	c.(358-360)agC>agA	p.S120R	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S120R|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	120					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTCTTACTTGCTGTTGATGA	0.368													9	49					1.76689e-08	1.87908e-08	1	0	T	50330967	G	T	50330967	3	4	49	1	0	0	0	0	1	0	0	0	1201	1310	46	4	3310	4	ATP8B4	15	50330967	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	8289189	50330967	52200425	76	9556											
NTRK3	4916	broad.mit.edu	37	chr15	88472443	88472443	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtaataatccgtgctgtaGacatctctggacatgccgaa	11	11	9	10	2	1	1	0	0	1	1	3	3	2	2	2	1	2	3	2	1	4	3			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr15:88472443G>C	ENST00000394480.1	-	17	2433	c.2112C>G	c.(2110-2112)gtC>gtG	p.V704V	NTRK3_ENST00000557856.1_Silent_p.V696V|NTRK3_ENST00000355254.2_Silent_p.V704V|NTRK3_ENST00000360948.2_Silent_p.V704V|NTRK3_ENST00000558676.1_Silent_p.V696V|NTRK3_ENST00000357724.2_Silent_p.V696V|NTRK3_ENST00000542733.2_Silent_p.V606V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	704	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCGTGCTGTAGACATCTCTGG	0.517			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			21	101					0	0	0	0	C	88472443	G	C	88472443	2	2	49	1	0	0	0	0	0	0	0	1	10779	929	33	2		2	NTRK3	15	88472443	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08	38141476	88472443	14058949	77	9557											
NLRC3	197358	broad.mit.edu	37	chr16	3594163	3594163	+	RNA	DEL	A	A	-																															gcaagactcttgtctcgaggAaaaaaaaaaaaaaaaagacc																								rs60164526		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr16:3594163delA	ENST00000301749.7	-	0	3261				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						tgtctcgaggaaaaaaaaaaa	0.488													4	5	---	---	---	---					-	3594163	A	-	3594163	6	5	49	0	1	1	0	1	0	0	0	0	10538	261	9	0		0	NLRC3	16	3594163	RNA	DEL	A	TCGA-BB-8596-01A-11D-2394-08		3594163	86760590	78	9558											
CIITA	4261	broad.mit.edu	37	chr16	11000940	11000940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctccgggggctgctggccGgccttttccagaagaagctg	5	8	14	14	2	0	2	0	0	0	2	2	2	2	2	5	4	2	3	5	4	2	2	rs144646271	byFrequency	TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr16:11000940G>A	ENST00000324288.8	+	11	1724	c.1591G>A	c.(1591-1593)Ggc>Agc	p.G531S	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	531	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCTGCTGGCCGGCCTTTTCCA	0.692			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								5	59					0	0	0	0	A	11000940	G	A	11000940	3	1	49	1	0	0	0	0	1	0	0	0	3457	1116	39	1	1633	1	CIITA	16	11000940	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	7406777	11000940	79353813	79	9559											
SCNN1G	6340	broad.mit.edu	37	chr16	23200873	23200873	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgatctttgatcaggatGagaagggcaaggccagggac	11	8	15	7	0	2	3	1	3	1	1	2	6	2	5	1	4	1	2	1	4	2	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr16:23200873G>C	ENST00000300061.2	+	3	642	c.499G>C	c.(499-501)Gag>Cag	p.E167Q		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	167					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGATCAGGATGAGAAGGGCAA	0.562													25	254					0	0	0	0	C	23200873	G	C	23200873	3	2	49	1	0	0	0	0	1	0	0	0	14017	1291	45	2	505	2	SCNN1G	16	23200873	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	12199933	23200873	67153880	80	9560											
CNGB1	1258	broad.mit.edu	37	chr16	57992361	57992361	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggctgcggcaaggccatctCcagcctgtgcaggacccatg	7	7	13	14	1	1	0	0	0	1	0	2	1	1	1	4	4	3	3	4	4	1	0			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr16:57992361C>G	ENST00000564448.1	-	11	832	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	CNGB1_ENST00000311183.4_Missense_Mutation_p.E264Q|CNGB1_ENST00000251102.8_Missense_Mutation_p.E264Q			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	264					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AAGGCCATCTCCAGCCTGTGC	0.622													11	60					0	0	0	0	G	57992361	C	G	57992361	3	3	49	1	0	0	0	0	1	0	0	0	3630	864	30	2	3087	2	CNGB1	16	57992361	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	34791488	57992361	32362392	81	9561											
TERF2	7014	broad.mit.edu	37	chr16	69400744	69400744	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagggaggggttggttgaGaacggtgggcttggatggtg	6	10	21	4	1	0	1	0	1	0	1	1	4	1	3	1	8	1	3	1	8	1	3			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr16:69400744G>C	ENST00000254942.3	-	7	1322	c.1306C>G	c.(1306-1308)Ctc>Gtc	p.L436V	TERF2_ENST00000603068.1_Missense_Mutation_p.L394V	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	394					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GGTTGGTTGAGAACGGTGGGC	0.562													4	41					0	0	0	0	C	69400744	G	C	69400744	3	2	49	1	0	0	0	0	1	0	0	0	15856	942	33	2	338	2	TERF2	16	69400744	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	11408383	69400744	20954009	82	9562											
MARVELD3	91862	broad.mit.edu	37	chr16	71674711	71674711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacacttgcaaaacaagagaGaggctctatgcccgcaaggg	14	5	12	10	1	1	2	0	0	1	2	1	4	1	2	1	2	3	3	1	2	5	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr16:71674711G>C	ENST00000299952.4	+	3	1057	c.1014G>C	c.(1012-1014)gaG>gaC	p.E338D	MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	341	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				AAACAAGAGAGAGGCTCTATG	0.572													9	80					0	0	0	0	C	71674711	G	C	71674711	3	2	49	1	0	0	0	0	1	0	0	0	9388	933	33	2	1639	2	MARVELD3	16	71674711	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	2273967	71674711	18680042	83	9563											
DHRS7C	201140	broad.mit.edu	37	chr17	9680514	9680514	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcttagcaacttacaagtCgtacggaacgggattccaaa	14	10	8	9	3	1	0	0	0	1	0	3	2	2	2	1	2	5	2	1	2	8	5			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr17:9680514C>T	ENST00000330255.4	-	4	582	c.570G>A	c.(568-570)acG>acA	p.T190T	DHRS7C_ENST00000571134.1_Silent_p.T189T	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	190						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ACTTACAAGTCGTACGGAACG	0.423													4	28					0	0	0	0	T	9680514	C	T	9680514	2	4	49	1	0	0	0	0	0	0	0	1	4534	871	31	1		1	DHRS7C	17	9680514	Silent	SNP	C	TCGA-BB-8596-01A-11D-2394-08		9680514	71514696	84	9564											
HNF1B	6928	broad.mit.edu	37	chr17	36064972	36064972	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtgtcatgatgaggttttGagattgctggggattatggt	7	15	17	2	0	1	3	1	3	0	1	1	5	1	4	0	5	1	2	0	5	1	4			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr17:36064972G>C	ENST00000225893.4	-	6	1652	c.1291C>G	c.(1291-1293)Caa>Gaa	p.Q431E	HNF1B_ENST00000560016.1_Missense_Mutation_p.Q431E|HNF1B_ENST00000561193.1_Missense_Mutation_p.Q405E|HNF1B_ENST00000427275.2_Missense_Mutation_p.Q405E	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	431					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			ATGAGGTTTTGAGATTGCTGG	0.488													13	69					0	0	0	0	C	36064972	G	C	36064972	3	2	49	1	0	0	0	0	1	0	0	0	7302	1299	45	2	398	2	HNF1B	17	36064972	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	26384458	36064972	45130238	85	9565											
KRT32	3882	broad.mit.edu	37	chr17	39616419	39616419	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaacagtgcgtggcacacaGacggtgcggggcacgcatgg	9	4	16	12	4	0	1	0	0	0	1	0	1	0	1	1	5	3	3	1	5	1	0			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr17:39616419G>C	ENST00000225899.3	-	7	1393	c.1290C>G	c.(1288-1290)gtC>gtG	p.V430V		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	430	Tail.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GTGGCACACAGACGGTGCGGG	0.637													8	30					0	0	0	0	C	39616419	G	C	39616419	2	2	49	1	0	0	0	0	0	0	0	1	8520	929	33	2		2	KRT32	17	39616419	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08	3551447	39616419	41578791	86	9566											
NPEPPS	9520	broad.mit.edu	37	chr17	45608813	45608813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgcgatgccggagaagagGcccttcgagcggctgcctgc	6	5	16	14	5	0	2	0	0	0	2	1	5	0	2	4	3	4	1	4	3	1	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr17:45608813G>T	ENST00000322157.4	+	1	384	c.147G>T	c.(145-147)agG>agT	p.R49S	NPEPPS_ENST00000544660.1_Missense_Mutation_p.R5S|NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000530173.1_Missense_Mutation_p.R45S	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	49					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CGGAGAAGAGGCCCTTCGAGC	0.677													4	7					0.150653	0.150653	1	0	T	45608813	G	T	45608813	3	4	49	1	0	0	0	0	1	0	0	0	10645	1194	42	4	149	4	NPEPPS	17	45608813	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	5992394	45608813	35586397	87	9567											
DHX40	79665	broad.mit.edu	37	chr17	57643053	57643053	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atgtcccggtttcccgcagtCgcgggcagggcgccaaggcg	5	6	16	14	6	0	0	0	0	0	0	3	0	2	0	3	4	0	3	3	4	1	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr17:57643053C>G	ENST00000251241.4	+	1	168	c.21C>G	c.(19-21)gtC>gtG	p.V7V	DHX40_ENST00000451169.2_5'UTR|DHX40_ENST00000425628.3_Silent_p.V7V	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	7							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTCCCGCAGTCGCGGGCAGGG	0.662													4	31					0	0	0	0	G	57643053	C	G	57643053	2	3	49	1	0	0	0	0	0	0	0	1	4549	871	31	3		3	DHX40	17	57643053	Silent	SNP	C	TCGA-BB-8596-01A-11D-2394-08	12034240	57643053	23552157	88	9568											
SRP68	6730	broad.mit.edu	37	chr17	74063379	74063379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgaagttgagtgtttttCgaagacgtctttgtctacgg	7	17	11	6	3	3	3	0	2	3	1	4	4	3	3	0	1	1	2	0	1	3	6			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr17:74063379C>T	ENST00000307877.2	-	3	445	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	SRP68_ENST00000539137.1_Intron|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	95					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GAGTGTTTTTCGAAGACGTCT	0.408													11	88					0	0	0	0	T	74063379	C	T	74063379	3	4	49	1	0	0	0	0	1	0	0	0	15246	884	31	1	1655	1	SRP68	17	74063379	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	16420326	74063379	7131831	89	9569											
CNDP2	55748	broad.mit.edu	37	chr18	72173115	72173119	+	Frame_Shift_Del	DEL	CTATT	CTATT	-																															ctcggagatcccgctccctcCtattctgctcggcaggctgg																										TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr18:72173115_72173119delCTATT	ENST00000324262.4	+	4	552_556	c.236_240delCTATT	c.(235-240)cfs	p.PI79fs	CNDP2_ENST00000324301.8_Intron|CNDP2_ENST00000579847.1_Frame_Shift_Del_p.PI79fs	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	79						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CCGCTCCCTCCTATTCTGCTCGGCA	0.576													8	48	---	---	---	---					-	72173119	CTATT	-	72173115	7	5	49	1	0	1	0	1	0	0	0	0	3624	681	24	0	246	0	CNDP2	18	72173115	Frame_Shift_Del	DEL	CTATT	TCGA-BB-8596-01A-11D-2394-08		72173115	5904133	90	9570											
MEX3D	399664	broad.mit.edu	37	chr19	1556649	1556649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatggtggcgcccttgggcCccaccaccagccccaccacc	6	5	10	20	1	0	1	0	1	0	0	0	1	0	1	9	3	1	0	9	3	0	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr19:1556649C>T	ENST00000402693.4	-	2	868	c.869G>A	c.(868-870)gGg>gAg	p.G290E	AC027307.1_ENST00000410788.1_RNA|MEX3D_ENST00000388824.6_Missense_Mutation_p.G290E	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	290	KH 2.				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		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)		GCCCTTGGGCCCCACCACCAG	0.726													11	30					0	0	0	0	T	1556649	C	T	1556649	3	4	49	1	0	0	0	0	1	0	0	0	9581	623	22	4	1153	4	MEX3D	19	1556649	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08		1556649	57572334	91	9571											
USE1	55850	broad.mit.edu	37	chr19	17327091	17327091	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatctgcagtcacgggcGcggtacaccagcgagatgcg	8	6	15	12	5	2	1	1	0	1	1	2	2	2	1	1	2	5	3	1	2	1	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr19:17327091G>A	ENST00000595101.1	+	4	363	c.345G>A	c.(343-345)gcG>gcA	p.A115A	USE1_ENST00000379776.4_Silent_p.A115A|USE1_ENST00000596136.1_Silent_p.A115A|USE1_ENST00000263897.5_Silent_p.A115A|USE1_ENST00000445667.2_Silent_p.A115A			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	115					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						AGTCACGGGCGCGGTACACCA	0.612													24	56					0	0	0	0	A	17327091	G	A	17327091	2	1	49	1	0	0	0	0	0	0	0	1	17127	1074	38	1		1	USE1	19	17327091	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08	15770442	17327091	41801892	92	9572											
MYH14	79784	broad.mit.edu	37	chr19	50781460	50781460	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcagcggaggcgccgcctgGagttacagctgcaggaggtg	8	5	18	10	3	0	0	0	0	0	0	0	3	0	3	2	5	5	4	2	5	1	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr19:50781460G>C	ENST00000440075.2	+	30	3993	c.3946G>C	c.(3946-3948)Gag>Cag	p.E1316Q	MYH14_ENST00000425460.1_Missense_Mutation_p.E1283Q|MYH14_ENST00000598205.1_Missense_Mutation_p.E1283Q|MYH14_ENST00000596571.1_Missense_Mutation_p.E1275Q|MYH14_ENST00000601313.1_Missense_Mutation_p.E1316Q|MYH14_ENST00000376970.2_Missense_Mutation_p.E1308Q|MYH14_ENST00000262269.8_Missense_Mutation_p.E1316Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1275					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCGCCGCCTGGAGTTACAGCT	0.697													6	17					0	0	0	0	C	50781460	G	C	50781460	3	2	49	1	0	0	0	0	1	0	0	0	10103	1175	41	2	4060	2	MYH14	19	50781460	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	33454369	50781460	8347523	93	9573											
ZNF761	388561	broad.mit.edu	37	chr19	53946133	53946133	+	RNA	DEL	A	A	-																															tctttaaaaatcatgttgtgAaaaaaaaaatacataatcac																								rs35108555		TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr19:53946133delA	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATGTTGTGAAAAAAAAAAT	0.348													4	3	---	---	---	---					-	53946133	A	-	53946133	6	5	49	0	1	1	0	1	0	0	0	0	18230	261	9	0		0	ZNF761	19	53946133	RNA	DEL	A	TCGA-BB-8596-01A-11D-2394-08	3164673	53946133	5182850	94	9574											
LILRB5	10990	broad.mit.edu	37	chr19	54755938	54755938	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcatccatctccaccccGtccttgggctgtgtgtcctt	4	12	9	16	2	1	0	0	0	1	0	5	1	4	0	6	1	1	2	6	1	0	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr19:54755938G>A	ENST00000450632.1	-	12	1658	c.1581C>T	c.(1579-1581)gaC>gaT	p.D527D	LILRB5_ENST00000316219.5_Silent_p.D535D|LILRB5_ENST00000449561.2_Silent_p.D536D|LILRB5_ENST00000345866.6_Silent_p.D436D			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	535					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTCCACCCCGTCCTTGGGCT	0.622													55	127					0	0	0	0	A	54755938	G	A	54755938	2	1	49	1	0	0	0	0	0	0	0	1	8848	1136	40	1		1	LILRB5	19	54755938	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08	809805	54755938	4373045	95	9575											
ASXL1	171023	broad.mit.edu	37	chr20	31022345	31022345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccggggttggactggCgccaggaccctcgcagacat	6	7	14	14	3	0	1	0	0	0	1	2	3	1	3	4	5	1	2	4	5	0	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr20:31022345C>T	ENST00000375687.4	+	13	2254	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_ENST00000306058.5_Silent_p.G605G	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	610					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.Q592fs*5(1)|p.G610G(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"F, N, Mis"		"MDS, CMML"								4	48					0	0	0	0	T	31022345	C	T	31022345	2	4	49	1	0	0	0	0	0	0	0	1	1070	755	27	1		1	ASXL1	20	31022345	Silent	SNP	C	TCGA-BB-8596-01A-11D-2394-08		31022345	32003175	96	9576											
ZNF831	128611	broad.mit.edu	37	chr20	57767475	57767475	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccgtaggagggccccGggccccgtgcgctccacctg	4	4	15	18	4	0	0	0	0	0	0	1	1	1	1	8	4	1	2	8	4	1	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr20:57767475G>A	ENST00000371030.2	+	1	1401	c.1401G>A	c.(1399-1401)ccG>ccA	p.P467P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	467						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGAGGGCCCCGGGCCCCGTGC	0.662													6	72					0	0	0	0	A	57767475	G	A	57767475	2	1	49	1	0	0	0	0	0	0	0	1	18278	1103	39	1		1	ZNF831	20	57767475	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08	26745130	57767475	5258045	97	9577											
RTEL1	51750	broad.mit.edu	37	chr20	62321751	62321751	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctccaccaggaaagctaaGagtctggacctgcatgtccc	10	9	9	13	0	2	1	0	0	2	1	4	3	3	3	4	2	2	2	4	2	2	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr20:62321751G>C	ENST00000318100.4	+	26	3197	c.2370G>C	c.(2368-2370)aaG>aaC	p.K790N	RTEL1_ENST00000370018.3_Missense_Mutation_p.K790N|RTEL1_ENST00000360203.5_Missense_Mutation_p.K790N|RTEL1_ENST00000370003.1_Missense_Mutation_p.K35N|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.K790N|RTEL1_ENST00000508582.2_Missense_Mutation_p.K814N			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	790					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GGAAAGCTAAGAGTCTGGACC	0.692													5	38					0	0	0	0	C	62321751	G	C	62321751	3	2	49	1	0	0	0	0	1	0	0	0	13805	933	33	2	2468	2	RTEL1	20	62321751	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	4554276	62321751	703769	98	9578											
SFI1	9814	broad.mit.edu	37	chr22	32002333	32002333	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggggcattacgtcgctggAaagagaacaccatggcccga	11	5	14	11	4	0	1	0	0	0	1	1	4	0	2	2	4	2	2	2	4	3	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr22:32002333A>G	ENST00000432498.1	+	20	2374	c.1981A>G	c.(1981-1983)Aaa>Gaa	p.K661E	SFI1_ENST00000400288.2_Missense_Mutation_p.K692E|SFI1_ENST00000400289.1_Missense_Mutation_p.K610E|SFI1_ENST00000540643.1_Missense_Mutation_p.K637E|SFI1_ENST00000443326.1_Missense_Mutation_p.K610E|SFI1_ENST00000443011.1_Missense_Mutation_p.K539E|SFI1_ENST00000414585.1_Missense_Mutation_p.K539E	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	692					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						ACGTCGCTGGAAAGAGAACAC	0.498													4	66					0	0	0	0	G	32002333	A	G	32002333	3	3	49	1	0	0	0	0	1	0	0	0	14243	247	9	5	2152	5	SFI1	22	32002333	Missense_Mutation	SNP	A	TCGA-BB-8596-01A-11D-2394-08		32002333	19302233	99	9579											
LARGE	9215	broad.mit.edu	37	chr22	33673130	33673130	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactccgggcagtcacgtctCacaacaacatacggctcaaa	13	7	7	14	3	3	0	3	0	1	0	5	0	4	0	1	2	4	2	1	2	5	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr22:33673130C>G	ENST00000354992.2	-	15	2560	c.1989G>C	c.(1987-1989)gtG>gtC	p.V663V	LARGE_ENST00000402320.1_Silent_p.V611V|LARGE_ENST00000452586.2_Silent_p.V462V|LARGE_ENST00000437602.2_Silent_p.V614V|LARGE_ENST00000337431.2_Silent_p.V611V|LARGE_ENST00000397394.2_Silent_p.V663V	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	663					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGTCACGTCTCACAACAACAT	0.577													23	82					0	0	0	0	G	33673130	C	G	33673130	2	3	49	1	0	0	0	0	0	0	0	1	8680	813	29	2		2	LARGE	22	33673130	Silent	SNP	C	TCGA-BB-8596-01A-11D-2394-08	1670797	33673130	17631436	100	9580											
APOL5	80831	broad.mit.edu	37	chr22	36122515	36122515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgacaccactcacgagttgCttaccaagaccagcctggtg	10	9	9	13	1	1	2	1	1	0	1	1	3	1	2	4	1	3	2	4	1	2	3			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr22:36122515C>T	ENST00000249044.2	+	3	400	c.400C>T	c.(400-402)Ctt>Ttt	p.L134F		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	134					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TCACGAGTTGCTTACCAAGAC	0.502													9	124					0	0	0	0	T	36122515	C	T	36122515	3	4	49	1	0	0	0	0	1	0	0	0	811	797	28	4	410	4	APOL5	22	36122515	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	2449385	36122515	15182051	101	9581											
APOL3	80833	broad.mit.edu	37	chr22	36556749	36556749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgaaagagtgtgagcaaGatccagctgttctgagctgt	10	12	12	7	0	2	5	0	3	2	2	3	5	3	5	1	0	3	4	1	0	2	2			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr22:36556749G>A	ENST00000349314.2	-	1	228	c.191C>T	c.(190-192)tCt>tTt	p.S64F	APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000397293.2_5'UTR|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000397287.2_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	64					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						GTGTGAGCAAGATCCAGCTGT	0.512													8	105					0	0	0	0	A	36556749	G	A	36556749	3	1	49	1	0	0	0	0	1	0	0	0	809	942	33	2	1029	2	APOL3	22	36556749	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	434234	36556749	14747817	102	9582											
XPNPEP3	63929	broad.mit.edu	37	chr22	41318410	41318410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attgtttggccctctgcttcCctgggacaagcttggagaac	7	12	11	11	0	1	1	0	0	1	1	2	3	2	2	2	3	3	3	2	3	2	4			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chr22:41318410C>T	ENST00000357137.4	+	8	1213	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P354S	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	377					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CCTCTGCTTCCCTGGGACAAG	0.478													30	260					0	0	0	0	T	41318410	C	T	41318410	3	4	49	1	0	0	0	0	1	0	0	0	17540	623	22	4	1159	4	XPNPEP3	22	41318410	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	4761661	41318410	9986156	103	9583											
P2RY8	286530	broad.mit.edu	37	chrX	1584402	1584402	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctgcctctggaggccGggcctggtggctccctccat	2	10	12	17	1	2	0	0	0	2	0	5	1	4	1	6	5	1	1	6	5	0	0			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chrX:1584402G>A	ENST00000381297.4	-	2	1260	c.1050C>T	c.(1048-1050)ccC>ccT	p.P350P		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	350						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTGGAGGCCGGGCCTGGTGG	0.716			T	CRLF2	"B-ALL, Downs associated ALL"								16	93					0	0	0	0	A	1584402	G	A	1584402	2	1	49	1	0	0	0	0	0	0	0	1	11426	1103	39	1		1	P2RY8	23	1584402	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08		1584402	153686158	104	9584											
PHEX	5251	broad.mit.edu	37	chrX	22117215	22117215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgagaatgtggtggtccGcgtcccgcagtactttaaag	8	10	12	11	4	0	1	0	0	0	1	3	2	3	1	3	2	1	2	3	2	4	3			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chrX:22117215G>A	ENST00000379374.4	+	9	1590	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	PHEX_ENST00000537599.1_Missense_Mutation_p.R342H|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000418858.3_Missense_Mutation_p.R45H|PHEX_ENST00000535894.1_Missense_Mutation_p.R245H	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	342					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	p.R342H(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GTGGTGGTCCGCGTCCCGCAG	0.448													8	125					0	0	0	0	A	22117215	G	A	22117215	3	1	49	1	0	0	0	0	1	0	0	0	11891	1087	38	1	1059	1	PHEX	23	22117215	Missense_Mutation	SNP	G	TCGA-BB-8596-01A-11D-2394-08	20532813	22117215	133153345	105	9585											
MAGEE2	139599	broad.mit.edu	37	chrX	75003750	75003750	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gattctggttgctggacaagGaggtagatgtgctcactggt	8	12	15	6	0	2	1	1	0	1	1	2	4	2	3	0	5	2	4	0	5	2	3			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chrX:75003750G>T	ENST00000373359.2	-	1	1329	c.1137C>A	c.(1135-1137)ctC>ctA	p.L379L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	379	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTGGACAAGGAGGTAGATGT	0.443													29	116					5.60225e-13	6.05404e-13	1	0	T	75003750	G	T	75003750	2	4	49	1	0	0	0	0	0	0	0	1	9255	1161	41	2		2	MAGEE2	23	75003750	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08	52886535	75003750	80266810	106	9586											
BCORL1	63035	broad.mit.edu	37	chrX	129147516	129147516	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcccttagcacctgtcccGgctctggctccagcgccacc	4	8	8	21	2	1	0	0	0	1	0	4	0	4	0	7	2	2	3	7	2	1	1			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chrX:129147516G>A	ENST00000540052.1	+	3	812	c.768G>A	c.(766-768)ccG>ccA	p.P256P	BCORL1_ENST00000218147.7_Silent_p.P256P|BCORL1_ENST00000359304.2_Silent_p.P256P|BCORL1_ENST00000303743.5_Silent_p.P256P	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	256	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACCTGTCCCGGCTCTGGCTC	0.622													24	226					0	0	0	0	A	129147516	G	A	129147516	2	1	49	1	0	0	0	0	0	0	0	1	1391	1103	39	1		1	BCORL1	23	129147516	Silent	SNP	G	TCGA-BB-8596-01A-11D-2394-08	54143766	129147516	26123044	107	9587											
ARHGAP4	393	broad.mit.edu	37	chrX	153178906	153178906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgctggccgcgcctcCggcccgcctgccggctgcct	0	7	13	21	5	0	0	0	0	0	0	1	0	1	0	8	3	4	3	8	3	0	0			TCGA-BB-8596-01A-11D-2394-08	TCGA-BB-8596-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ded927-d328-4fbd-a9b6-22186c6e8d16	2c431744-ff25-4064-933b-53037e011d1e	g.chrX:153178906C>T	ENST00000370028.3	-	10	1460	c.1403G>A	c.(1402-1404)cGg>cAg	p.R468Q	ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R428Q|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R250Q|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R407Q|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R405Q	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	428					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGCGCCTCCGGCCCGCCTG	0.692													6	99					0	0	0	0	T	153178906	C	T	153178906	3	4	49	1	0	0	0	0	1	0	0	0	887	652	23	1	1613	1	ARHGAP4	23	153178906	Missense_Mutation	SNP	C	TCGA-BB-8596-01A-11D-2394-08	24031390	153178906	2091654	108	9588											
ELTD1	64123	broad.mit.edu	37	chr1	79387450	79387450	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaattccaaaatgcacataGactcctatacctatctgtga	14	12	5	10	0	1	2	0	1	1	1	3	2	3	2	3	0	2	2	3	0	7	6			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr1:79387450G>A	ENST00000370742.3	-	9	1168	c.1105C>T	c.(1105-1107)Cta>Tta	p.L369L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	369	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AATGCACATAGACTCCTATAC	0.378													27	8					0	0	0	0	A	79387450	G	A	79387450	2	1	50	1	0	0	0	0	0	0	0	1	5122	933	33	2		2	ELTD1	1	79387450	Silent	SNP	G	TCGA-BB-8601-01A-11D-2394-08		79387450	169863171	1	9589											
HRNR	388697	broad.mit.edu	37	chr1	152187504	152187504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgacctgagccagacccatGttggccgtggctggaggagt	8	7	15	11	2	0	2	0	1	0	1	0	5	0	4	4	4	1	2	4	4	0	1			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr1:152187504G>A	ENST00000368801.2	-	3	6676	c.6601C>T	c.(6601-6603)Cat>Tat	p.H2201Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2201					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGACCCATGTTGGCCGTGG	0.617													64	1027					0	0	0	0	A	152187504	G	A	152187504	3	1	50	1	0	0	0	0	1	0	0	0	7409	1377	48	4	1955	4	HRNR	1	152187504	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08	72800054	152187504	97063117	2	9590											
ASH1L	55870	broad.mit.edu	37	chr1	155449890	155449890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctatggttgtcactttcaGattctagcttgcttggactt	6	19	8	8	0	4	1	2	0	2	1	4	2	4	2	0	2	2	3	0	2	2	9			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr1:155449890G>C	ENST00000368346.3	-	3	3410	c.2771C>G	c.(2770-2772)tCt>tGt	p.S924C	ASH1L_ENST00000392403.3_Missense_Mutation_p.S924C			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	924					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.S924C(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTCACTTTCAGATTCTAGCTT	0.473													109	114					0	0	0	0	C	155449890	G	C	155449890	3	2	50	1	0	0	0	0	1	0	0	0	1045	942	33	2	6227	2	ASH1L	1	155449890	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08	3262386	155449890	93800731	3	9591											
RNPEP	6051	broad.mit.edu	37	chr1	201972573	201972573	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggataagatcctccagaaAtcccctctccctcctggtaa	10	10	6	15	0	1	2	0	0	1	2	6	3	5	3	6	2	0	1	6	2	3	2			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr1:201972573A>T	ENST00000295640.4	+	9	1678	c.1635A>T	c.(1633-1635)aaA>aaT	p.K545N	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.K506N|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	545					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	p.K545N(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCCTCCAGAAATCCCCTCTCC	0.537													17	29					0	0	0	0	T	201972573	A	T	201972573	3	4	50	1	0	0	0	0	1	0	0	0	13594	98	4	5	1669	5	RNPEP	1	201972573	Missense_Mutation	SNP	A	TCGA-BB-8601-01A-11D-2394-08	46522683	201972573	47278048	4	9592											
NID1	4811	broad.mit.edu	37	chr1	236228283	236228283	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggccgaagggaaagagctCctggcggctcaggcagccca	9	3	17	12	2	1	1	1	0	0	1	2	3	2	2	3	6	2	3	3	6	2	0			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr1:236228283C>A	ENST00000264187.6	-	1	179	c.97G>T	c.(97-99)Gag>Tag	p.E33*	NID1_ENST00000366595.3_Nonsense_Mutation_p.E33*	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	33				EL -> SS (in Ref. 2; CAA57709).	cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGAAAGAGCTCCTGGCGGCTC	0.701													4	5					0.00024832	0.000253337	1	0	A	236228283	C	A	236228283	4	1	50	1	0	0	0	0	0	1	0	0	10484	864	30	2	3726	2	NID1	1	236228283	Nonsense_Mutation	SNP	C	TCGA-BB-8601-01A-11D-2394-08	34255710	236228283	13022338	5	9593											
LTBP1	4052	broad.mit.edu	37	chr2	33590472	33590472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaatacgtgtgtagccGgcctcttgtgggcaagcaga	9	10	14	8	2	1	3	0	2	1	1	1	3	1	3	2	2	3	3	2	2	4	3			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr2:33590472G>A	ENST00000404816.2	+	31	4966	c.4613G>A	c.(4612-4614)cGg>cAg	p.R1538Q	LTBP1_ENST00000402934.1_Missense_Mutation_p.R1157Q|LTBP1_ENST00000272273.5_Missense_Mutation_p.R436Q|LTBP1_ENST00000354476.3_Missense_Mutation_p.R1539Q|LTBP1_ENST00000418533.2_Missense_Mutation_p.R1170Q|LTBP1_ENST00000407925.1_Missense_Mutation_p.R1212Q|LTBP1_ENST00000404525.1_Missense_Mutation_p.R1159Q|LTBP1_ENST00000390003.4_Missense_Mutation_p.R1213Q			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1538	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTGTGTAGCCGGCCTCTTGTG	0.498													37	27					0	0	0	0	A	33590472	G	A	33590472	3	1	50	1	0	0	0	0	1	0	0	0	9137	1116	39	1	4790	1	LTBP1	2	33590472	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08		33590472	209608901	6	9594											
VAX2	25806	broad.mit.edu	37	chr2	71160180	71160180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcctcagcgtccccccCactgccgccccctctgccag	3	6	8	24	3	2	0	1	0	1	0	4	0	3	0	8	1	3	0	8	1	0	0	rs140956448	byFrequency	TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr2:71160180C>A	ENST00000234392.2	+	3	751	c.719C>A	c.(718-720)cCa>cAa	p.P240Q		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	240					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GCGTCCCCCCCACTGCCGCCC	0.682													4	44					0.00909568	0.00918664	1	0	A	71160180	C	A	71160180	3	1	50	1	0	0	0	0	1	0	0	0	17231	594	21	4	729	4	VAX2	2	71160180	Missense_Mutation	SNP	C	TCGA-BB-8601-01A-11D-2394-08	37569708	71160180	172039193	7	9595											
SLC35F5	80255	broad.mit.edu	37	chr2	114482997	114482997	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtactgttccaataaggccaTtaatgataatgcacattaat	15	13	6	7	0	0	1	0	1	0	0	1	1	1	1	2	1	2	3	2	1	6	6			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr2:114482997T>C	ENST00000245680.2	-	12	1621	c.1208A>G	c.(1207-1209)aAt>aGt	p.N403S	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	403					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AATAAGGCCATTAATGATAAT	0.338													58	47					0	0	0	0	C	114482997	T	C	114482997	3	2	50	1	0	0	0	0	1	0	0	0	14680	1493	52	5	379	5	SLC35F5	2	114482997	Missense_Mutation	SNP	T	TCGA-BB-8601-01A-11D-2394-08	43322817	114482997	128716376	8	9596											
CUL3	8452	broad.mit.edu	37	chr2	225342966	225342966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctagatttcattatcCgcactatagcagcttctatc	9	17	4	11	1	4	1	1	0	3	1	6	1	5	1	1	0	2	3	1	0	5	8			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr2:225342966C>T	ENST00000264414.4	-	15	2464	c.2126G>A	c.(2125-2127)cGg>cAg	p.R709Q	CUL3_ENST00000409096.1_Missense_Mutation_p.R685Q|CUL3_ENST00000344951.4_Missense_Mutation_p.R643Q|CUL3_ENST00000409777.1_Missense_Mutation_p.R685Q	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	709					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	p.R709Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTTCATTATCCGCACTATAGC	0.408													34	5					0	0	0	0	T	225342966	C	T	225342966	3	4	50	1	0	0	0	0	1	0	0	0	4088	652	23	1	188	1	CUL3	2	225342966	Missense_Mutation	SNP	C	TCGA-BB-8601-01A-11D-2394-08	110859969	225342966	17856407	9	9597											
CNTN6	27255	broad.mit.edu	37	chr3	1269522	1269522	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagcaaaatggcacagAcattgattttactatgagtt	14	12	10	5	0	0	3	0	2	0	1	0	4	0	4	0	2	2	3	0	2	5	5			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:1269522A>T	ENST00000446702.2	+	4	830	c.203A>T	c.(202-204)gAc>gTc	p.D68V	CNTN6_ENST00000350110.2_Missense_Mutation_p.D68V|CNTN6_ENST00000539053.1_5'UTR			Q9UQ52	CNTN6_HUMAN	contactin 6	68	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AATGGCACAGACATTGATTTT	0.363													50	14					0	0	0	0	T	1269522	A	T	1269522	3	4	50	1	0	0	0	0	1	0	0	0	3675	275	10	5	213	5	CNTN6	3	1269522	Missense_Mutation	SNP	A	TCGA-BB-8601-01A-11D-2394-08		1269522	196752908	10	9598											
CCR4	1233	broad.mit.edu	37	chr3	32995557	32995557	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcggattggtgatccccTtagggatcatgctgttttgc	5	16	11	9	1	2	1	1	1	1	0	4	3	3	3	2	3	2	2	2	3	1	5			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:32995557T>C	ENST00000330953.5	+	2	811	c.643T>C	c.(643-645)Tta>Cta	p.L215L		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	215					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GGTGATCCCCTTAGGGATCAT	0.473													92	22					0	0	0	0	C	32995557	T	C	32995557	2	2	50	1	0	0	0	0	0	0	0	1	2972	1606	56	5		5	CCR4	3	32995557	Silent	SNP	T	TCGA-BB-8601-01A-11D-2394-08	31726035	32995557	165026873	11	9599											
CELSR3	1951	broad.mit.edu	37	chr3	48698278	48698281	+	Frame_Shift_Del	DEL	CTGT	CTGT	-																															cctggatctcgccagtgaggCtgtcgatggcaaagtgtcca																										TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:48698278_48698281delCTGT	ENST00000544264.1	-	1	2067_2070	c.1787_1790delACAG	c.(1786-1791)gcfs	p.DS596fs	CELSR3_ENST00000164024.4_Frame_Shift_Del_p.DS596fs			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	596	Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.D596fs*94(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCAGTGAGGCTGTCGATGGCAAA	0.618													24	13	---	---	---	---					-	48698281	CTGT	-	48698278	7	5	50	1	0	1	0	1	0	0	0	0	3252	797	28	0	8288	0	CELSR3	3	48698278	Frame_Shift_Del	DEL	CTGT	TCGA-BB-8601-01A-11D-2394-08	15702721	48698278	149324152	12	9600											
MST1	4485	broad.mit.edu	37	chr3	49723603	49723603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagccgtcggggttccGgcagaagttctcccgaaggt	6	9	14	12	4	2	2	0	1	2	1	5	3	3	2	3	4	1	3	3	4	2	2			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:49723603G>A	ENST00000449682.2	-	9	1400	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	333	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R333W(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662													3	14					0	0	0	0	A	49723603	G	A	49723603	3	1	50	1	0	0	0	0	1	0	0	0	9960	1115	39	1	1178	1	MST1	3	49723603	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08	1025325	49723603	148298827	13	9601											
STX19	415117	broad.mit.edu	37	chr3	93733420	93733420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagatatctgaatgaaaaGatcccttaaatcctttattt	16	14	5	6	0	1	4	0	2	1	2	3	5	3	4	2	0	0	0	2	0	8	5			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:93733420G>A	ENST00000315099.2	-	2	950	c.694C>T	c.(694-696)Ctt>Ttt	p.L232F	ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	232	t-SNARE coiled-coil homology.				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TGAATGAAAAGATCCCTTAAA	0.318													23	45					0	0	0	0	A	93733420	G	A	93733420	3	1	50	1	0	0	0	0	1	0	0	0	15432	942	33	2	194	2	STX19	3	93733420	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08	44009817	93733420	104289010	14	9602											
ZPLD1	131368	broad.mit.edu	37	chr3	102176697	102176697	+	Splice_Site	DEL	C	C	-																															ttgaacctgctcctttataaCgtaagttgatgggtgaagga																								rs140908535		TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:102176697delC	ENST00000306176.1	+	5	730	c.630_splice	c.e5+1	p.N210_splice	ZPLD1_ENST00000491959.1_Splice_Site_p.N194_splice|ZPLD1_ENST00000466937.1_Splice_Site_p.N194_splice	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	194	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TCCTTTATAACGTAAGTTGAT	0.368													8	203	---	---	---	---					-	102176697	C	-	102176697	8	5	50	1	0	1	0	1	0	0	1	0	18314	550	19	0	648	0	ZPLD1	3	102176697	Splice_Site	DEL	C	TCGA-BB-8601-01A-11D-2394-08	8443277	102176697	95845733	15	9603											
POLQ	10721	broad.mit.edu	37	chr3	121206858	121206858	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaaaatcctttgcagtccTggacttagatcaaatgatgc	12	13	7	9	0	2	2	1	1	1	1	4	3	4	3	2	1	2	1	2	1	4	3			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:121206858T>A	ENST00000264233.5	-	16	5048	c.4920A>T	c.(4918-4920)ccA>ccT	p.P1640P		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1640					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTGCAGTCCTGGACTTAGAT	0.348								DNA polymerases (catalytic subunits)					78	317					0	0	0	0	A	121206858	T	A	121206858	2	1	50	1	0	0	0	0	0	0	0	1	12280	1567	55	5		5	POLQ	3	121206858	Silent	SNP	T	TCGA-BB-8601-01A-11D-2394-08	19030161	121206858	76815572	16	9604											
NMD3	51068	broad.mit.edu	37	chr3	160942823	160942823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaggtattccgaaacaagtCtcgatttcgttctgcaaaca	13	11	7	10	3	2	0	0	0	2	0	5	2	3	0	1	1	3	3	1	1	5	4			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:160942823C>T	ENST00000460469.1	+	2	605	c.150C>T	c.(148-150)gtC>gtT	p.V50V	NMD3_ENST00000472947.1_Silent_p.V50V|NMD3_ENST00000478160.1_Intron|NMD3_ENST00000351193.2_Silent_p.V50V			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	50					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CGAAACAAGTCTCGATTTCGT	0.418													57	130					0	0	0	0	T	160942823	C	T	160942823	2	4	50	1	0	0	0	0	0	0	0	1	10558	900	32	2		2	NMD3	3	160942823	Silent	SNP	C	TCGA-BB-8601-01A-11D-2394-08	39735965	160942823	37079607	17	9605											
PHC3	80012	broad.mit.edu	37	chr3	169831259	169831259	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcacctgattatccaaaaGaggccgttttttcacaggct	11	13	7	10	1	2	2	2	1	0	1	3	2	3	2	3	2	0	2	3	2	4	5			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:169831259G>C	ENST00000494943.1	-	11	2274	c.2206C>G	c.(2206-2208)Ctt>Gtt	p.L736V	PHC3_ENST00000467570.1_Missense_Mutation_p.L695V|PHC3_ENST00000495893.1_Missense_Mutation_p.L748V			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	736					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTATCCAAAAGAGGCCGTTTT	0.363													24	39					0	0	0	0	C	169831259	G	C	169831259	3	2	50	1	0	0	0	0	1	0	0	0	11890	942	33	2	765	2	PHC3	3	169831259	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08	8888436	169831259	28191171	18	9606											
EIF4G1	1981	broad.mit.edu	37	chr3	184049828	184049828	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcagaaggagctacaggcGctctacgccctccaggccct	9	5	12	15	2	1	1	0	0	1	1	2	3	2	2	3	3	4	3	3	3	3	2			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:184049828G>T	ENST00000342981.4	+	31	4989	c.4575G>T	c.(4573-4575)gcG>gcT	p.A1525A	EIF4G1_ENST00000411531.1_Silent_p.A1485A|EIF4G1_ENST00000382330.3_Silent_p.A1531A|EIF4G1_ENST00000414031.1_Silent_p.A1484A|EIF4G1_ENST00000350481.5_Silent_p.A1360A|EIF4G1_ENST00000427845.1_Silent_p.A1438A|EIF4G1_ENST00000352767.3_Silent_p.A1531A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.A1437A|EIF4G1_ENST00000441154.1_Silent_p.A1361A|EIF4G1_ENST00000435046.2_Silent_p.A1328A|EIF4G1_ENST00000346169.2_Silent_p.A1524A|EIF4G1_ENST00000434061.2_Silent_p.A1329A|EIF4G1_ENST00000319274.6_Silent_p.A1524A|EIF4G1_ENST00000424196.1_Silent_p.A1531A	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1524	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCTACAGGCGCTCTACGCCC	0.592													24	88					9.86323e-18	1.10687e-17	1	0	T	184049828	G	T	184049828	2	4	50	1	0	0	0	0	0	0	0	1	5074	1074	38	3		3	EIF4G1	3	184049828	Silent	SNP	G	TCGA-BB-8601-01A-11D-2394-08	14218569	184049828	13972602	19	9607											
SYNPO2	171024	broad.mit.edu	37	chr4	119951816	119951816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcagtcactcctccccCtgacgccttctccagagggg	5	9	9	18	1	3	2	1	1	2	1	6	2	5	2	5	2	1	1	5	2	0	1			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr4:119951816C>A	ENST00000307142.4	+	4	2082	c.1886C>A	c.(1885-1887)cCt>cAt	p.P629H	SYNPO2_ENST00000434046.2_Missense_Mutation_p.P629H|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P629H	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	629	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACTCCTCCCCCTGACGCCTTC	0.607													57	24					1.70232e-10	1.84875e-10	1	0	A	119951816	C	A	119951816	3	1	50	1	0	0	0	0	1	0	0	0	15548	681	24	4	1900	4	SYNPO2	4	119951816	Missense_Mutation	SNP	C	TCGA-BB-8601-01A-11D-2394-08		119951816	71202460	20	9608											
HHIP	64399	broad.mit.edu	37	chr4	145640051	145640051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttacattttatcaagcaGtaaaagtatgacccagactc	15	12	6	8	0	1	2	1	1	0	1	2	2	1	2	1	0	2	4	1	0	6	6			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr4:145640051G>A	ENST00000296575.3	+	11	2358	c.1703G>A	c.(1702-1704)aGt>aAt	p.S568N		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	568						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	p.S568N(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTATCAAGCAGTAAAAGTATG	0.333													29	9					0	0	0	0	A	145640051	G	A	145640051	3	1	50	1	0	0	0	0	1	0	0	0	7142	1029	36	4	1745	4	HHIP	4	145640051	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08	25688235	145640051	45514225	21	9609											
FBXW7	55294	broad.mit.edu	37	chr4	153253749	153253750	+	Splice_Site	INS	-	-	T																															tgcaattttgaaccttacccINStcttctttgcatttctctct																										TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr4:153253749_153253750insT	ENST00000281708.4	-	6	2212_2213	c.985_splice	c.e6+1	p.G328_splice	FBXW7_ENST00000603841.1_Splice_Site_p.G328_splice|FBXW7_ENST00000296555.5_Splice_Site_p.G210_splice|FBXW7_ENST00000603548.1_Splice_Site_p.G328_splice|FBXW7_ENST00000393956.3_Splice_Site_p.G152_splice|FBXW7_ENST00000263981.5_Splice_Site_p.G248_splice	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	328					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.I330fs*2(2)|p.I91fs*2(1)|p.?(1)|p.I250fs*2(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAACCTTACCCTCTTCTTTGCA	0.366			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								27	9	---	---	---	---					T	153253750	-	T	153253749	8	5	50	1	0	1	1	0	0	0	1	0	5814	695	24	0	1167	0	FBXW7	4	153253749	Splice_Site	INS	-	TCGA-BB-8601-01A-11D-2394-08	7613698	153253749	37900527	22	9610											
HCN1	348980	broad.mit.edu	37	chr5	45353231	45353231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatcattgagttcattgaGaatattttcctcatcaaaga	14	14	7	6	0	4	3	4	2	0	2	5	5	5	4	1	1	0	1	1	1	3	6	rs146123836		TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr5:45353231G>A	ENST00000303230.4	-	5	1405	c.1348C>T	c.(1348-1350)Ctc>Ttc	p.L450F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	450						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGTTCATTGAGAATATTTTCC	0.338													37	67					0	0	0	0	A	45353231	G	A	45353231	3	1	50	1	0	0	0	0	1	0	0	0	7046	942	33	2	1340	2	HCN1	5	45353231	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08		45353231	135562029	23	9611											
RASA1	5921	broad.mit.edu	37	chr5	86676366	86676366	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtttacagaaatctgttCagcataagtggcctacaaat	13	12	9	7	0	2	1	1	0	1	1	2	1	2	1	1	2	3	3	1	2	5	5			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr5:86676366C>T	ENST00000456692.2	+	20	2228	c.2113C>T	c.(2113-2115)Cag>Tag	p.Q705*	RASA1_ENST00000274376.6_Nonsense_Mutation_p.Q882*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.Q715*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.Q716*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	882					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	p.Q882*(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GAAATCTGTTCAGCATAAGTG	0.363													57	20					0	0	0	0	T	86676366	C	T	86676366	4	4	50	1	0	0	0	0	0	1	0	0	13142	827	29	2	2734	2	RASA1	5	86676366	Nonsense_Mutation	SNP	C	TCGA-BB-8601-01A-11D-2394-08	41323135	86676366	94238894	24	9612											
CYFIP2	26999	broad.mit.edu	37	chr5	156753240	156753240	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actatgctctgaccaagtttAaaaagcagttcctgtacgat	13	12	7	9	1	1	1	0	1	1	0	2	2	2	1	2	0	3	5	2	0	6	5			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr5:156753240A>T	ENST00000347377.6	+	18	2475	c.2044A>T	c.(2044-2046)Aaa>Taa	p.K682*	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.K381*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.K682*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.K707*|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.K607*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.K486*|CYFIP2_ENST00000521420.1_Nonsense_Mutation_p.K656*	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	707					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACCAAGTTTAAAAAGCAGTT	0.448													82	32					0	0	0	0	T	156753240	A	T	156753240	4	4	50	1	0	0	0	0	0	1	0	0	4170	363	13	5	2110	5	CYFIP2	5	156753240	Nonsense_Mutation	SNP	A	TCGA-BB-8601-01A-11D-2394-08	70076874	156753240	24162020	25	9613											
FARS2	10667	broad.mit.edu	37	chr6	5613479	5613479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattacgcagaaaatgatttCtatgacttagtccgaacaat	16	12	6	7	2	1	3	0	2	1	1	2	4	2	3	1	0	2	1	1	0	8	4			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr6:5613479C>G	ENST00000324331.6	+	6	1479	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	FARS2_ENST00000274680.4_Missense_Mutation_p.F381L			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	381	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AAAATGATTTCTATGACTTAG	0.383													20	61					0	0	0	0	G	5613479	C	G	5613479	3	3	50	1	0	0	0	0	1	0	0	0	5723	912	32	2	1161	2	FARS2	6	5613479	Missense_Mutation	SNP	C	TCGA-BB-8601-01A-11D-2394-08		5613479	165501588	26	9614											
TNXB	7148	broad.mit.edu	37	chr6	32063534	32063534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacacacactggcctgccCggcacagttcccggggcccg	7	4	11	19	3	0	0	0	0	0	0	1	0	1	0	4	4	1	2	4	4	0	1			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr6:32063534C>A	ENST00000375244.3	-	3	2297	c.2096G>T	c.(2095-2097)cGg>cTg	p.R699L	TNXB_ENST00000479795.1_Missense_Mutation_p.R699L|TNXB_ENST00000375247.2_Missense_Mutation_p.R699L			P22105	TENX_HUMAN	tenascin XB	699	EGF-like 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGGCCTGCCCGGCACAGTTC	0.687													24	15					1.85244e-09	1.99039e-09	1	0	A	32063534	C	A	32063534	3	1	50	1	0	0	0	0	1	0	0	0	16440	652	23	3	12785	3	TNXB	6	32063534	Missense_Mutation	SNP	C	TCGA-BB-8601-01A-11D-2394-08	26450055	32063534	139051533	27	9615											
UBR2	23304	broad.mit.edu	37	chr6	42608004	42608004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatttccagagctcctacCtctagtaagtggtgcttaca	11	13	7	10	0	1	1	0	0	1	1	3	1	3	1	3	1	4	3	3	1	6	6			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr6:42608004C>T	ENST00000372899.1	+	16	2174	c.1916C>T	c.(1915-1917)cCt>cTt	p.P639L	UBR2_ENST00000372883.3_Missense_Mutation_p.P143L|UBR2_ENST00000372901.1_Missense_Mutation_p.P639L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	639					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGCTCCTACCTCTAGTAAGT	0.303													18	27					0	0	0	0	T	42608004	C	T	42608004	3	4	50	1	0	0	0	0	1	0	0	0	16998	681	24	4	2124	4	UBR2	6	42608004	Missense_Mutation	SNP	C	TCGA-BB-8601-01A-11D-2394-08	10544470	42608004	128507063	28	9616											
AMD1	262	broad.mit.edu	37	chr6	111214719	111214719	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttgcttcgccccagaagaTtgaaggttttaagcgtcttg	8	13	11	9	2	1	3	0	1	1	2	2	3	1	3	2	1	2	3	2	1	3	6			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr6:111214719T>C	ENST00000368885.3	+	9	1241	c.905T>C	c.(904-906)aTt>aCt	p.I302T	AMD1_ENST00000368877.5_Missense_Mutation_p.I273T|AMD1_ENST00000451850.2_Missense_Mutation_p.I182T|AMD1_ENST00000368882.3_Missense_Mutation_p.I154T|AMD1_ENST00000368876.1_Missense_Mutation_p.I233T	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	302					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	CCCCAGAAGATTGAAGGTTTT	0.388													60	62					0	0	0	0	C	111214719	T	C	111214719	3	2	50	1	0	0	0	0	1	0	0	0	566	1493	52	5	939	5	AMD1	6	111214719	Missense_Mutation	SNP	T	TCGA-BB-8601-01A-11D-2394-08	68606715	111214719	59900348	29	9617											
L3MBTL3	84456	broad.mit.edu	37	chr6	130415450	130415450	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttcagaacatggtggatgCtcaaccccgggatgtaaagg	11	8	13	9	1	2	1	2	0	0	1	2	3	2	3	2	4	3	3	2	4	4	2			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr6:130415450C>T	ENST00000529410.1	+	20	2153	c.1674C>T	c.(1672-1674)tgC>tgT	p.C558C	L3MBTL3_ENST00000361794.2_Silent_p.C558C|L3MBTL3_ENST00000368136.2_Silent_p.C558C|L3MBTL3_ENST00000526019.1_Silent_p.C533C|L3MBTL3_ENST00000368139.2_Silent_p.C533C|L3MBTL3_ENST00000533560.1_Silent_p.C533C			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	558					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ATGGTGGATGCTCAACCCCGG	0.448													23	28					0	0	0	0	T	130415450	C	T	130415450	2	4	50	1	0	0	0	0	0	0	0	1	8646	805	28	4		4	L3MBTL3	6	130415450	Silent	SNP	C	TCGA-BB-8601-01A-11D-2394-08	19200731	130415450	40699617	30	9618											
ADAP1	11033	broad.mit.edu	37	chr7	959664	959664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcgctcgtacttggccCggatccactgctctcgaagg	5	10	11	15	4	1	0	0	0	1	0	5	2	2	1	3	3	2	3	3	3	2	2			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr7:959664C>T	ENST00000265846.5	-	4	548	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	ADAP1_ENST00000539900.1_Missense_Mutation_p.R121Q|ADAP1_ENST00000449296.2_Missense_Mutation_p.R38Q|ADAP1_ENST00000463358.1_5'UTR	NM_006869.2	NP_006860.1	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	110	Arf-GAP.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	p.R110Q(1)		endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTACTTGGCCCGGATCCACTG	0.682													10	17					0	0	0	0	T	959664	C	T	959664	3	4	50	1	0	0	0	0	1	0	0	0	279	652	23	1	827	1	ADAP1	7	959664	Missense_Mutation	SNP	C	TCGA-BB-8601-01A-11D-2394-08		959664	158178999	31	9619											
ZNF479	90827	broad.mit.edu	37	chr7	57193797	57193797	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctccagacaggtgatcaAgtctggcttagagacagcaa	12	9	11	9	0	2	3	1	1	1	2	3	4	3	3	1	2	2	3	1	2	3	2			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr7:57193797A>G	ENST00000331162.4	-	4	460	c.190T>C	c.(190-192)Ttg>Ctg	p.L64L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CAGGTGATCAAGTCTGGCTTA	0.368													39	104					0	0	0	0	G	57193797	A	G	57193797	2	3	50	1	0	0	0	0	0	0	0	1	18028	69	3	5		5	ZNF479	7	57193797	Silent	SNP	A	TCGA-BB-8601-01A-11D-2394-08	56234133	57193797	101944866	32	9620											
RELN	5649	broad.mit.edu	37	chr7	103155716	103155716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgctcatgctggggtaCtggggcgctgctgaaggtgt	5	9	19	8	2	1	1	1	1	0	0	1	2	1	2	0	6	4	5	0	6	2	1			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr7:103155716C>G	ENST00000424685.2	-	50	8194	c.8035G>C	c.(8035-8037)Gta>Cta	p.V2679L	RELN_ENST00000343529.5_Missense_Mutation_p.V2679L|RELN_ENST00000428762.1_Missense_Mutation_p.V2679L			P78509	RELN_HUMAN	reelin	2679					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.V2679L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGCTGGGGTACTGGGGCGCTG	0.552													23	31					0	0	0	0	G	103155716	C	G	103155716	3	3	50	1	0	0	0	0	1	0	0	0	13302	565	20	4	2411	4	RELN	7	103155716	Missense_Mutation	SNP	C	TCGA-BB-8601-01A-11D-2394-08	45961919	103155716	55982947	33	9621											
EXOC4	60412	broad.mit.edu	37	chr7	133602448	133602448	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaatatggctcaacccAaacagctgaggccaaaaaga	17	5	10	9	0	1	3	1	2	0	1	1	4	1	4	2	3	3	2	2	3	6	1			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr7:133602448A>G	ENST00000253861.4	+	13	2013	c.1984A>G	c.(1984-1986)Aaa>Gaa	p.K662E	EXOC4_ENST00000545148.1_Missense_Mutation_p.K272E|EXOC4_ENST00000539845.1_Missense_Mutation_p.K561E|EXOC4_ENST00000460346.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	662					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	p.K662E(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GGCTCAACCCAAACAGCTGAG	0.408													47	77					0	0	0	0	G	133602448	A	G	133602448	3	3	50	1	0	0	0	0	1	0	0	0	5343	131	5	5	2043	5	EXOC4	7	133602448	Missense_Mutation	SNP	A	TCGA-BB-8601-01A-11D-2394-08	30446732	133602448	25536215	34	9622											
MFHAS1	9258	broad.mit.edu	37	chr8	8748872	8748872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcggctcagtccctccGcgtcgtgcttctcctgcagg	4	9	11	17	4	2	0	1	0	1	0	6	0	4	0	4	2	3	3	4	2	1	1			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr8:8748872G>A	ENST00000276282.6	-	1	2283	c.1697C>T	c.(1696-1698)gCg>gTg	p.A566V		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	566	Roc.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CAGTCCCTCCGCGTCGTGCTT	0.652													24	51					0	0	0	0	A	8748872	G	A	8748872	3	1	50	1	0	0	0	0	1	0	0	0	9590	1087	38	1	1473	1	MFHAS1	8	8748872	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08		8748872	137615150	35	9623											
TEX15	56154	broad.mit.edu	37	chr8	30703211	30703211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgagacactgctagccataCttttcctagaaaggcatttt	11	14	7	9	0	0	2	0	1	0	2	1	3	1	2	2	1	3	2	2	1	4	8			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr8:30703211C>A	ENST00000256246.2	-	1	3397	c.3323G>T	c.(3322-3324)aGt>aTt	p.S1108I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1108	Ser-rich.							p.S1108I(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTAGCCATACTTTTCCTAGA	0.393													41	65					6.33695e-27	7.27309e-27	1	0	A	30703211	C	A	30703211	3	1	50	1	0	0	0	0	1	0	0	0	15873	565	20	4	5062	4	TEX15	8	30703211	Missense_Mutation	SNP	C	TCGA-BB-8601-01A-11D-2394-08	21954339	30703211	115660811	36	9624											
CYP7A1	1581	broad.mit.edu	37	chr8	59409583	59409583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttctgtcacccaggcagcgGtctttgagttagaggagact	8	11	12	10	1	3	3	1	1	2	2	3	4	3	3	1	3	1	2	1	3	1	3			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr8:59409583G>A	ENST00000301645.3	-	3	625	c.488C>T	c.(487-489)aCc>aTc	p.T163I		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	163					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCAGGCAGCGGTCTTTGAGTT	0.483									Neonatal Giant Cell Hepatitis				96	126					0	0	0	0	A	59409583	G	A	59409583	3	1	50	1	0	0	0	0	1	0	0	0	4228	1261	44	4	1042	4	CYP7A1	8	59409583	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08	28706372	59409583	86954439	37	9625											
CLVS1	157807	broad.mit.edu	37	chr8	62212794	62212794	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaaaccgagaccattaCggcaggaagattcttttgct	12	10	10	9	2	1	2	0	0	1	2	1	5	1	4	2	3	3	2	2	3	4	4			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr8:62212794C>T	ENST00000519846.1	+	3	880	c.408C>T	c.(406-408)taC>taT	p.Y136Y	RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Silent_p.Y136Y			Q8IUQ0	CLVS1_HUMAN	clavesin 1	136	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.Y136*(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGACCATTACGGCAGGAAGA	0.443													32	38					0	0	0	0	T	62212794	C	T	62212794	2	4	50	1	0	0	0	0	0	0	0	1	3601	547	19	1		1	CLVS1	8	62212794	Silent	SNP	C	TCGA-BB-8601-01A-11D-2394-08	2803211	62212794	84151228	38	9626											
KCNB2	9312	broad.mit.edu	37	chr8	73850051	73850051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acttcttagagctcccagggGcaagggaggagaagcaggtg	11	6	16	8	0	1	2	0	0	1	2	2	4	2	3	1	5	2	3	1	5	3	2			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr8:73850051G>A	ENST00000523207.1	+	3	3049	c.2461G>A	c.(2461-2463)Gca>Aca	p.A821T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	821					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCTCCCAGGGGCAAGGGAGGA	0.507													45	77					0	0	0	0	A	73850051	G	A	73850051	3	1	50	1	0	0	0	0	1	0	0	0	8066	1203	42	4	2467	4	KCNB2	8	73850051	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08	11637257	73850051	72513971	39	9627											
TRAPPC9	83696	broad.mit.edu	37	chr8	141461118	141461118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgatctccccctgcagccCgaagacaaagagccgggagt	11	4	11	15	3	1	2	0	0	1	2	2	5	1	3	4	1	3	1	4	1	2	0			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr8:141461118C>T	ENST00000389328.4	-	2	663	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.G119R|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.G119R	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	119					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCCTGCAGCCCGAAGACAAAG	0.582													38	51					0	0	0	0	T	141461118	C	T	141461118	3	4	50	1	0	0	0	0	1	0	0	0	16560	652	23	1	3179	1	TRAPPC9	8	141461118	Missense_Mutation	SNP	C	TCGA-BB-8601-01A-11D-2394-08	67611067	141461118	4902904	40	9628											
LPAR1	1902	broad.mit.edu	37	chr9	113704016	113704016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccactacccgccggttgcTcatccgtgtgtggagctgca	6	9	11	15	3	1	0	1	0	0	0	2	1	2	1	4	2	4	4	4	2	1	2			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr9:113704016T>C	ENST00000374431.3	-	4	861	c.478A>G	c.(478-480)Agc>Ggc	p.S160G	LPAR1_ENST00000358883.4_Missense_Mutation_p.S160G|LPAR1_ENST00000541779.1_Missense_Mutation_p.S161G|LPAR1_ENST00000538760.1_Missense_Mutation_p.S161G|LPAR1_ENST00000374430.2_Missense_Mutation_p.S160G	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	160					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CGCCGGTTGCTCATCCGTGTG	0.527													75	82					0	0	0	0	C	113704016	T	C	113704016	3	2	50	1	0	0	0	0	1	0	0	0	8968	1551	54	5	624	5	LPAR1	9	113704016	Missense_Mutation	SNP	T	TCGA-BB-8601-01A-11D-2394-08		113704016	27509415	41	9629											
KIAA1217	56243	broad.mit.edu	37	chr10	24813481	24813481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcccctgtggtcatccagCcctcccagcactccgtggcc	4	8	9	20	1	1	0	1	0	0	0	5	0	5	0	7	2	2	2	7	2	0	0			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr10:24813481C>T	ENST00000376451.2	+	8	1995	c.1735C>T	c.(1735-1737)Ccc>Tcc	p.P579S	KIAA1217_ENST00000458595.1_Missense_Mutation_p.P861S|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P579S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P896S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P861S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P579S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P579S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P816S			Q5T5P2	SKT_HUMAN	KIAA1217	896					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGTCATCCAGCCCTCCCAGCA	0.642													31	14					0	0	0	0	T	24813481	C	T	24813481	3	4	50	1	0	0	0	0	1	0	0	0	8267	739	26	4	2736	4	KIAA1217	10	24813481	Missense_Mutation	SNP	C	TCGA-BB-8601-01A-11D-2394-08		24813481	110721266	42	9630											
ADAMTS14	140766	broad.mit.edu	37	chr10	72489877	72489877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctgagcctgatcgagcGcgggaacccctcacgcagcc	7	5	12	17	4	1	2	1	2	0	0	3	4	2	3	5	1	4	1	5	1	1	0			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr10:72489877G>A	ENST00000373208.1	+	6	974	c.974G>A	c.(973-975)cGc>cAc	p.R325H	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R325H	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	325	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R325H(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTGATCGAGCGCGGGAACCCC	0.652													38	21					0	0	0	0	A	72489877	G	A	72489877	3	1	50	1	0	0	0	0	1	0	0	0	259	1087	38	1	996	1	ADAMTS14	10	72489877	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08	47676396	72489877	63044870	43	9631											
PPP2R2D	55844	broad.mit.edu	37	chr10	133761152	133761152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaccagagactacctgtcGgtgaaggtgtgggacctcaa	11	8	13	9	1	1	3	1	2	0	1	2	5	1	4	3	3	1	0	3	3	3	1			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr10:133761152G>A	ENST00000422256.2	+	6	741	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	56					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		ACTACCTGTCGGTGAAGGTGT	0.512													36	14					0	0	0	0	A	133761152	G	A	133761152	3	1	50	1	0	0	0	0	1	0	0	0	12463	1103	39	1	863	1	PPP2R2D	10	133761152	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08	61271275	133761152	1773595	44	9632											
IPO7	10527	broad.mit.edu	37	chr11	9455160	9455160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttacaggtcattggtaCtgttttacaacagcatgtct	9	15	8	9	0	2	0	1	0	1	0	2	0	2	0	0	2	6	4	0	2	4	5			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr11:9455160C>T	ENST00000379719.3	+	17	2067	c.1925C>T	c.(1924-1926)aCt>aTt	p.T642I		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	642					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GTCATTGGTACTGTTTTACAA	0.348													31	19					0	0	0	0	T	9455160	C	T	9455160	3	4	50	1	0	0	0	0	1	0	0	0	7850	565	20	4	1991	4	IPO7	11	9455160	Missense_Mutation	SNP	C	TCGA-BB-8601-01A-11D-2394-08		9455160	125551356	45	9633											
ELP4	26610	broad.mit.edu	37	chr11	31541612	31541612	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatttccaggtggaggttTagccgttggaacagttcttc	7	15	11	8	1	2	0	1	0	1	0	4	2	3	2	2	4	2	3	2	4	2	7			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr11:31541612T>A	ENST00000395934.2	+	2	240	c.233T>A	c.(232-234)tTa>tAa	p.L78*	ELP4_ENST00000379163.5_Nonsense_Mutation_p.L78*|ELP4_ENST00000350638.5_Nonsense_Mutation_p.L78*			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	78					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	p.L78*(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GGTGGAGGTTTAGCCGTTGGA	0.348													11	35					0	0	0	0	A	31541612	T	A	31541612	4	1	50	1	0	0	0	0	0	1	0	0	5120	1764	61	5	239	5	ELP4	11	31541612	Nonsense_Mutation	SNP	T	TCGA-BB-8601-01A-11D-2394-08	22086452	31541612	103464904	46	9634											
LRP4	4038	broad.mit.edu	37	chr11	46897149	46897149	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccagtagatataggagtcGagcagggtgaggccatatgg	11	8	16	6	1	0	2	0	1	0	1	2	4	1	3	2	4	1	2	2	4	4	4			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr11:46897149G>A	ENST00000378623.1	-	27	4025	c.3783C>T	c.(3781-3783)ctC>ctT	p.L1261L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1261					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TATAGGAGTCGAGCAGGGTGA	0.567													25	51					0	0	0	0	A	46897149	G	A	46897149	2	1	50	1	0	0	0	0	0	0	0	1	9023	1045	37	1		1	LRP4	11	46897149	Silent	SNP	G	TCGA-BB-8601-01A-11D-2394-08	15355537	46897149	88109367	47	9635											
TMEM123	114908	broad.mit.edu	37	chr11	102272718	102272718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtggatgttgatatctgaGatgtgttctgtgaaacactt	9	17	11	4	0	2	3	0	3	2	1	2	5	2	4	0	1	1	2	0	1	2	5			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr11:102272718G>A	ENST00000398136.2	-	3	797	c.377C>T	c.(376-378)tCt>tTt	p.S126F	TMEM123_ENST00000532161.1_Missense_Mutation_p.S38F|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000361236.3_Missense_Mutation_p.S107F	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	126	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		TGATATCTGAGATGTGTTCTG	0.398													49	121					0	0	0	0	A	102272718	G	A	102272718	3	1	50	1	0	0	0	0	1	0	0	0	16130	942	33	2	261	2	TMEM123	11	102272718	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08	55375569	102272718	32733798	48	9636											
ATM	472	broad.mit.edu	37	chr11	108175462	108175462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatgatattttactccaaGatacaaatgaatcatggaga	16	13	6	6	0	2	4	2	2	0	2	3	5	3	4	1	1	2	0	1	1	6	5	rs1801516	byFrequency	TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr11:108175462G>A	ENST00000278616.4	+	37	5942	c.5557G>A	c.(5557-5559)Gat>Aat	p.D1853N	ATM_ENST00000452508.2_Missense_Mutation_p.D1853N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1853			D -> N (common polymorphism; dbSNP:rs1801516).|D -> V (might contribute to B-cell chronic lymphocytic leukemia; dbSNP:rs1801673).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.D1853N(10)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTACTCCAAGATACAAATGA	0.388			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			5	57					0	0	0	0	A	108175462	G	A	108175462	3	1	50	1	0	0	0	0	1	0	0	0	1113	942	33	2	5699	2	ATM	11	108175462	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08	5902744	108175462	26831054	49	9637											
GLB1L3	112937	broad.mit.edu	37	chr11	134151992	134151992	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctacatctgcagtgagAtggacctcgggggcttgccc	6	8	14	13	2	1	1	0	1	1	1	2	3	1	2	3	3	3	3	3	3	1	2			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr11:134151992A>G	ENST00000389887.5	+	5	3001	c.505A>G	c.(505-507)Atg>Gtg	p.M169V	GLB1L3_ENST00000431683.2_Missense_Mutation_p.M169V			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	169					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTGCAGTGAGATGGACCTCGG	0.552													11	6					0	0	0	0	G	134151992	A	G	134151992	3	3	50	1	0	0	0	0	1	0	0	0	6481	333	12	5	523	5	GLB1L3	11	134151992	Missense_Mutation	SNP	A	TCGA-BB-8601-01A-11D-2394-08	25976530	134151992	854524	50	9638											
STYK1	55359	broad.mit.edu	37	chr12	10774533	10774533	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttctttggagatgctctaGgatgctggtaggagggactt	7	13	14	7	0	2	1	0	0	2	1	2	5	2	4	1	5	2	3	1	5	2	5			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr12:10774533G>C	ENST00000075503.3	-	10	1526	c.1006C>G	c.(1006-1008)Cta>Gta	p.L336V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	336	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGATGCTCTAGGATGCTGGTA	0.418										HNSCC(73;0.22)			42	87					0	0	0	0	C	10774533	G	C	10774533	3	2	50	1	0	0	0	0	1	0	0	0	15449	991	35	4	270	4	STYK1	12	10774533	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08		10774533	123077362	51	9639											
KCNH3	23416	broad.mit.edu	37	chr12	49942697	49942697	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctggctgcaggagctggcCcgccgactggagactcccta	6	6	15	14	2	0	1	0	0	0	1	1	4	1	2	3	5	2	4	3	5	1	1			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr12:49942697C>T	ENST00000257981.6	+	8	1469	c.1209C>T	c.(1207-1209)gcC>gcT	p.A403A		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	403					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGGAGCTGGCCCGCCGACTGG	0.692													3	15					0	0	0	0	T	49942697	C	T	49942697	2	4	50	1	0	0	0	0	0	0	0	1	8086	610	22	4		4	KCNH3	12	49942697	Silent	SNP	C	TCGA-BB-8601-01A-11D-2394-08	39168164	49942697	83909198	52	9640											
RBMS2	5939	broad.mit.edu	37	chr12	56975859	56975860	+	Frame_Shift_Ins	INS	-	-	A																															caggttttacccagccccctINSataacatcacccccaacagg																										TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr12:56975859_56975860insA	ENST00000262031.5	+	9	891_892	c.796_797insA	c.(796-798)taafs	p.*266fs	RBMS2_ENST00000552247.2_Frame_Shift_Ins_p.*266fs|RBMS2_ENST00000550726.1_Frame_Shift_Ins_p.*141fs|RBMS2_ENST00000542360.1_Frame_Shift_Ins_p.*121fs	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	266					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CCCAGCCCCCTATAACATCACC	0.51													56	156	---	---	---	---					A	56975860	-	A	56975859	7	5	50	1	0	1	1	0	0	0	0	0	13231	1522	53	0	830	0	RBMS2	12	56975859	Frame_Shift_Ins	INS	-	TCGA-BB-8601-01A-11D-2394-08	7033162	56975859	76876036	53	9641											
MYO1H	283446	broad.mit.edu	37	chr12	109876392	109876392	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctcggaaggcaatccAaaggagaaagtgggccgtgc	11	5	15	10	2	0	1	0	0	0	1	2	3	1	2	3	5	1	2	3	5	4	0			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr12:109876392A>G	ENST00000310903.5	+	23	2319	c.2213A>G	c.(2212-2214)cAa>cGa	p.Q738R	MYO1H_ENST00000431443.2_Missense_Mutation_p.Q748R			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAGGCAATCCAAAGGAGAAAG	0.522													6	17					0	0	0	0	G	109876392	A	G	109876392	3	3	50	1	0	0	0	0	1	0	0	0	10145	130	5	5	2299	5	MYO1H	12	109876392	Missense_Mutation	SNP	A	TCGA-BB-8601-01A-11D-2394-08	52900533	109876392	23975503	54	9642											
RASAL1	8437	broad.mit.edu	37	chr12	113559376	113559376	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagcatctgcactgaCaggcagatctcaccctgcac	9	8	7	17	0	2	2	1	1	2	1	5	2	4	2	3	1	3	4	3	1	0	0			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr12:113559376C>A	ENST00000546530.1	-	6	651	c.366G>T	c.(364-366)ctG>ctT	p.L122L	RASAL1_ENST00000548055.1_Silent_p.L122L|RASAL1_ENST00000446861.3_Silent_p.L122L|RASAL1_ENST00000261729.5_Silent_p.L122L|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	122	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCTGCACTGACAGGCAGATCT	0.567													45	41					1.6237e-14	1.78254e-14	1	0	A	113559376	C	A	113559376	2	1	50	1	0	0	0	0	0	0	0	1	13145	465	17	4		4	RASAL1	12	113559376	Silent	SNP	C	TCGA-BB-8601-01A-11D-2394-08	3682984	113559376	20292519	55	9643											
GPC5	2262	broad.mit.edu	37	chr13	92797181	92797181	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtggggactgtgatgaTgaagatggttgcgggggatc	8	10	19	4	1	1	4	1	3	0	1	2	6	1	6	0	5	1	1	0	5	1	1			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr13:92797181T>C	ENST00000377067.3	+	7	1872	c.1500T>C	c.(1498-1500)gaT>gaC	p.D500D		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	500						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACTGTGATGATGAAGATGGTT	0.463													68	18					0	0	0	0	C	92797181	T	C	92797181	2	2	50	1	0	0	0	0	0	0	0	1	6650	1461	51	5		5	GPC5	13	92797181	Silent	SNP	T	TCGA-BB-8601-01A-11D-2394-08		92797181	22372697	56	9644											
OR4E2	26686	broad.mit.edu	37	chr14	22133973	22133973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcatcctggtttctcttcGaaaacactcagctgaagggc	9	11	10	11	1	3	1	2	1	1	0	6	2	4	1	1	3	2	2	1	3	3	2			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr14:22133973G>A	ENST00000408935.1	+	1	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTCTCTTCGAAAACACTCA	0.502													63	70					0	0	0	0	A	22133973	G	A	22133973	3	1	50	1	0	0	0	0	1	0	0	0	11131	1058	37	1	679	1	OR4E2	14	22133973	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08		22133973	85215567	57	9645											
CDCA4	55038	broad.mit.edu	37	chr14	105478059	105478059	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctgcgtcatctcctcttGgatctgccggaccgtgttgg	4	13	11	13	3	4	0	1	0	3	0	6	2	5	2	4	3	2	1	4	3	0	2			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr14:105478059G>C	ENST00000336219.3	-	2	363	c.208C>G	c.(208-210)Caa>Gaa	p.Q70E	CDCA4_ENST00000392590.3_Missense_Mutation_p.Q70E	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	70	SERTA.					nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		ATCTCCTCTTGGATCTGCCGG	0.632													43	50					0	0	0	0	C	105478059	G	C	105478059	3	2	50	1	0	0	0	0	1	0	0	0	3117	1357	47	4	521	4	CDCA4	14	105478059	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08	83344086	105478059	1871481	58	9646											
MNS1	55329	broad.mit.edu	37	chr15	56748690	56748690	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttcttcttgtttgagctgGagttctttcaatctcttgtt	4	23	7	7	0	5	1	1	1	4	0	6	2	5	2	0	1	1	4	0	1	1	9			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr15:56748690G>T	ENST00000260453.3	-	3	419	c.255C>A	c.(253-255)ctC>ctA	p.L85L		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	85	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		GTTTGAGCTGGAGTTCTTTCA	0.348													12	38					0.00010058	0.000103659	1	0	T	56748690	G	T	56748690	2	4	50	1	0	0	0	0	0	0	0	1	9747	1161	41	2		2	MNS1	15	56748690	Silent	SNP	G	TCGA-BB-8601-01A-11D-2394-08		56748690	45782702	59	9647											
NOX5	79400	broad.mit.edu	37	chr15	69347794	69347794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagaaagactccatcaCggggctgcagacgcgcaccc	12	3	13	13	3	1	4	1	0	0	4	2	5	2	4	2	3	1	3	2	3	2	0			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr15:69347794C>T	ENST00000260364.5	+	16	2367	c.2066C>T	c.(2065-2067)aCg>aTg	p.T689M	NOX5_ENST00000448182.3_Missense_Mutation_p.T661M|NOX5_ENST00000388866.3_Missense_Mutation_p.T707M|NOX5_ENST00000455873.3_Missense_Mutation_p.T672M|NOX5_ENST00000530406.2_Missense_Mutation_p.T679M			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	707					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GACTCCATCACGGGGCTGCAG	0.577													32	27					0	0	0	0	T	69347794	C	T	69347794	3	4	50	1	0	0	0	0	1	0	0	0	10629	536	19	1	2211	1	NOX5	15	69347794	Missense_Mutation	SNP	C	TCGA-BB-8601-01A-11D-2394-08	12599104	69347794	33183598	60	9648											
ADAMTS17	170691	broad.mit.edu	37	chr15	100801716	100801716	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcagcatccaccaggggCgggtcgtccttcccgccggg	5	5	15	16	5	0	0	0	0	0	0	4	0	3	0	5	5	1	2	5	5	0	1			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr15:100801716C>A	ENST00000268070.4	-	6	1104	c.999G>T	c.(997-999)ccG>ccT	p.P333P		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	333	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCACCAGGGGCGGGTCGTCCT	0.562													9	39					7.48243e-07	7.955e-07	1	0	A	100801716	C	A	100801716	2	1	50	1	0	0	0	0	0	0	0	1	262	755	27	3		3	ADAMTS17	15	100801716	Silent	SNP	C	TCGA-BB-8601-01A-11D-2394-08	31453922	100801716	1729676	61	9649											
CRAMP1L	57585	broad.mit.edu	37	chr16	1718076	1718076	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgtctccaccagacgtCtctgctctgctcgacatctc	5	11	8	17	3	4	1	0	0	4	1	8	2	4	1	2	1	2	3	2	1	0	0			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr16:1718076C>A	ENST00000397412.3	+	18	3315	c.3216C>A	c.(3214-3216)gtC>gtA	p.V1072V	CRAMP1L_ENST00000262317.4_Silent_p.V450V|CRAMP1L_ENST00000293925.5_Silent_p.V1072V|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.V1069V			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1072	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CACCAGACGTCTCTGCTCTGC	0.612													9	44					1.12685e-05	1.17332e-05	1	0	A	1718076	C	A	1718076	2	1	50	1	0	0	0	0	0	0	0	1	3876	900	32	2		2	CRAMP1L	16	1718076	Silent	SNP	C	TCGA-BB-8601-01A-11D-2394-08		1718076	88636677	62	9650											
ABCA3	21	broad.mit.edu	37	chr16	2347470	2347470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggtcacttttctgccgcTgaagaagatcccagatggcc	8	10	11	12	2	2	4	1	1	1	3	3	4	3	4	3	2	2	1	3	2	2	2			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr16:2347470T>C	ENST00000301732.5	-	17	2823	c.2123A>G	c.(2122-2124)cAg>cGg	p.Q708R	ABCA3_ENST00000382381.3_Missense_Mutation_p.Q650R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	708	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q708R(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TTTCTGCCGCTGAAGAAGATC	0.622													62	29					0	0	0	0	C	2347470	T	C	2347470	3	2	50	1	0	0	0	0	1	0	0	0	33	1580	55	5	3059	5	ABCA3	16	2347470	Missense_Mutation	SNP	T	TCGA-BB-8601-01A-11D-2394-08	629394	2347470	88007283	63	9651											
OR3A2	4995	broad.mit.edu	37	chr17	3182212	3182212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccagcttctggctccatGagtttctgtaaggacatgtc	7	13	10	11	0	2	1	0	1	2	0	5	2	4	2	2	2	1	4	2	2	1	3			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr17:3182212G>A	ENST00000408891.2	-	1	56	c.18C>T	c.(16-18)ctC>ctT	p.L6L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	6					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CTGGCTCCATGAGTTTCTGTA	0.463													41	45					0	0	0	0	A	3182212	G	A	3182212	2	1	50	1	0	0	0	0	0	0	0	1	11109	1277	45	2		2	OR3A2	17	3182212	Silent	SNP	G	TCGA-BB-8601-01A-11D-2394-08		3182212	78012998	64	9652											
TP53	7157	broad.mit.edu	37	chr17	7576862	7576863	+	Frame_Shift_Ins	INS	-	-	A																															gacttagtacctgaagggtgINSaaatattctccatccagtgg																										TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr17:7576862_7576863insA	ENST00000420246.2	-	9	1115_1116	c.983_984insT	c.(982-984)tacfs	p.Y328fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y328fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	328	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.T329fs*8(3)|p.F328F(1)|p.T329fs*21(1)|p.F328S(1)|p.?(1)|p.F328fs*9(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTGAAGGGTGAAATATTCTCC	0.441		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			49	25	---	---	---	---					A	7576863	-	A	7576862	7	5	50	1	0	1	1	0	0	0	0	0	16476	1281	45	0	298	0	TP53	17	7576862	Frame_Shift_Ins	INS	-	TCGA-BB-8601-01A-11D-2394-08	4394650	7576862	73618348	65	9653											
C17orf104	284071	broad.mit.edu	37	chr17	42745255	42745255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacaatagccgtgtgaatcGcacacaagtgtcatgctttt	12	11	9	9	2	1	2	1	1	0	1	2	2	1	2	1	0	2	2	1	0	4	3			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr17:42745255G>A	ENST00000409122.2	+	5	2118	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H	C17orf104_ENST00000359945.3_Missense_Mutation_p.R659H|C17orf104_ENST00000409464.1_Missense_Mutation_p.R493H	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	659										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CGTGTGAATCGCACACAAGTG	0.398													26	32					0	0	0	0	A	42745255	G	A	42745255	3	1	50	1	0	0	0	0	1	0	0	0	1864	1087	38	1	1994	1	C17orf104	17	42745255	Missense_Mutation	SNP	G	TCGA-BB-8601-01A-11D-2394-08	35168393	42745255	38449955	66	9654											
NME1	4830	broad.mit.edu	37	chr17	49237412	49237412	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttgccggcctggtgaaAtacatgcactcagggccggt	7	11	12	11	2	2	1	1	1	1	0	2	1	2	1	3	4	3	1	3	4	2	3			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr17:49237412A>G	ENST00000511355.1	+	3	284	c.198A>G	c.(196-198)aaA>aaG	p.K66K	NME2_ENST00000555572.1_Silent_p.K91K|NME1_ENST00000393196.3_Silent_p.K66K|NME2_ENST00000376392.6_Silent_p.K66K|NME1_ENST00000480143.1_Silent_p.K91K|NME2_ENST00000393193.2_Silent_p.K66K|NME1_ENST00000336097.3_Silent_p.K91K|NME1_ENST00000013034.3_Silent_p.K91K					NME/NM23 nucleoside diphosphate kinase 1											endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GCCTGGTGAAATACATGCACT	0.488													70	105					0	0	0	0	G	49237412	A	G	49237412	2	3	50	1	0	0	0	0	0	0	0	1	10559	98	4	5		5	NME1	17	49237412	Silent	SNP	A	TCGA-BB-8601-01A-11D-2394-08	6492157	49237412	31957798	67	9655											
SSTR2	6752	broad.mit.edu	37	chr17	71165779	71165779	+	Frame_Shift_Del	DEL	C	C	-																															atgcaggtggctctggtccaCtggccctttggcaaggccat																										TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr17:71165779delC	ENST00000357585.2	+	2	690	c.321delC	c.(319-321)cafs	p.H107fs	SSTR2_ENST00000315332.2_Frame_Shift_Del_p.H107fs|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	107					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CTCTGGTCCACTGGCCCTTTG	0.532													58	86	---	---	---	---					-	71165779	C	-	71165779	7	5	50	1	0	1	0	1	0	0	0	0	15288	564	20	0	323	0	SSTR2	17	71165779	Frame_Shift_Del	DEL	C	TCGA-BB-8601-01A-11D-2394-08	21928367	71165779	10029431	68	9656											
EXOC7	23265	broad.mit.edu	37	chr17	74097810	74097810	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacatggtagtagctgatGacatggtccaggcaggacag	11	7	14	9	0	0	2	0	2	0	0	1	3	1	3	2	4	1	4	2	4	2	2			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr17:74097810G>T	ENST00000607838.1	-	3	355	c.261C>A	c.(259-261)gtC>gtA	p.V87V	EXOC7_ENST00000411744.2_Silent_p.V87V|EXOC7_ENST00000406660.3_Silent_p.V87V|EXOC7_ENST00000405575.4_Silent_p.V87V|EXOC7_ENST00000467929.2_Silent_p.V46V|EXOC7_ENST00000332065.5_Silent_p.V87V|EXOC7_ENST00000589210.1_Silent_p.V87V|EXOC7_ENST00000335146.7_Silent_p.V87V	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	87					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AGTAGCTGATGACATGGTCCA	0.547													67	99					1.08241e-25	1.22835e-25	1	0	T	74097810	G	T	74097810	2	4	50	1	0	0	0	0	0	0	0	1	5347	1277	45	2		2	EXOC7	17	74097810	Silent	SNP	G	TCGA-BB-8601-01A-11D-2394-08	2932031	74097810	7097400	69	9657											
SLC14A2	8170	broad.mit.edu	37	chr18	43262351	43262351	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcctgctcctgacgaccaAtaaccccgccatctacaagc	10	8	5	18	2	1	1	0	1	1	0	3	2	3	1	6	0	4	1	6	0	4	3			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr18:43262351A>T	ENST00000255226.6	+	20	3446	c.2630A>T	c.(2629-2631)aAt>aTt	p.N877I	SLC14A2_ENST00000589658.1_Missense_Mutation_p.N354I|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.N877I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	877						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.N877I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGACGACCAATAACCCCGCC	0.542													151	64					0	0	0	0	T	43262351	A	T	43262351	3	4	50	1	0	0	0	0	1	0	0	0	14485	101	4	5	2704	5	SLC14A2	18	43262351	Missense_Mutation	SNP	A	TCGA-BB-8601-01A-11D-2394-08		43262351	34814897	70	9658											
EMR1	2015	broad.mit.edu	37	chr19	6897559	6897559	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagaaactccacctgtgaagGtatccatgaccatctcttta	12	12	6	11	0	1	3	0	2	1	1	4	3	3	3	4	1	1	1	4	1	5	4			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr19:6897559G>T	ENST00000312053.4	+	5	551		c.e5+1		EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Splice_Site|EMR1_ENST00000381404.4_Splice_Site|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000601198.1_Splice_Site	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1						cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACCTGTGAAGGTATCCATGAC	0.423													38	37					2.87052e-16	3.18596e-16	1	0	T	6897559	G	T	6897559	5	4	50	1	0	0	0	0	0	0	1	0	5142	1275	44	4	533	4	EMR1	19	6897559	Splice_Site	SNP	G	TCGA-BB-8601-01A-11D-2394-08		6897559	52231424	71	9659											
JAK3	3718	broad.mit.edu	37	chr19	17951143	17951143	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgagcttgttgatggcaaAgtccagactgtgggggaagg	9	10	16	6	0	0	3	0	2	0	1	1	4	1	4	1	4	1	3	1	4	2	3			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr19:17951143A>T	ENST00000458235.1	-	9	1249	c.1150T>A	c.(1150-1152)Ttt>Att	p.F384I	JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Missense_Mutation_p.F384I|JAK3_ENST00000534444.1_Missense_Mutation_p.F384I	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	384	SH2; atypical.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.F384I(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TTGATGGCAAAGTCCAGACTG	0.562		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								16	24					0	0	0	0	T	17951143	A	T	17951143	3	4	50	1	0	0	0	0	1	0	0	0	7992	72	3	5	2288	5	JAK3	19	17951143	Missense_Mutation	SNP	A	TCGA-BB-8601-01A-11D-2394-08	11053584	17951143	41177840	72	9660											
HOMER3	9454	broad.mit.edu	37	chr19	19049612	19049612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggagacagtgagtgcgtgCttgcccgctgggatccagtt	7	10	15	9	2	0	2	0	1	0	1	1	4	1	3	2	2	3	3	2	2	1	3			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr19:19049612C>T	ENST00000539827.1	-	2	748	c.96G>A	c.(94-96)aaG>aaA	p.K32K	HOMER3_ENST00000542541.2_Silent_p.K32K|HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000594439.1_Silent_p.K32K|HOMER3_ENST00000433218.2_Silent_p.K32K|HOMER3_ENST00000392351.3_Silent_p.K32K|HOMER3_ENST00000355887.6_Silent_p.K32K|HOMER3_ENST00000221222.11_Silent_p.K32K			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	32	WH1.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TGAGTGCGTGCTTGCCCGCTG	0.607													9	9					0	0	0	0	T	19049612	C	T	19049612	2	4	50	1	0	0	0	0	0	0	0	1	7330	796	28	4		4	HOMER3	19	19049612	Silent	SNP	C	TCGA-BB-8601-01A-11D-2394-08	1098469	19049612	40079371	73	9661											
ACPT	93650	broad.mit.edu	37	chr19	51293714	51293716	+	In_Frame_Del	DEL	CTG	CTG	-																															gccaccctgctggacctctcCtgctgctgctgctgctggtg																										TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr19:51293714_51293716delCTG	ENST00000270593.1	+	1	43_45	c.43_45delCTG	c.(43-45)del	p.L20del	ACPT_ENST00000270594.3_In_Frame_Del_p.L20del	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	20						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGACCTCTCctgctgctgctgc	0.709													2	4	---	---	---	---					-	51293716	CTG	-	51293714	7	5	50	1	0	1	0	1	0	0	0	0	168	680	24	0	45	0	ACPT	19	51293714	In_Frame_Del	DEL	CTG	TCGA-BB-8601-01A-11D-2394-08	32244102	51293714	7835269	74	9662											
LIMK2	3985	broad.mit.edu	37	chr22	31663761	31663761	+	Splice_Site	DEL	G	G	-																															cttggcttcccccacccccaGgtgaaagtgatgcgcagcct																										TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr22:31663761delG	ENST00000331728.4	+	10	1242		c.e10-1		LIMK2_ENST00000333611.4_Splice_Site|LIMK2_ENST00000444929.2_Splice_Site|LIMK2_ENST00000406516.1_Splice_Site|LIMK2_ENST00000340552.4_Splice_Site	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2							mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCCACCCCCAGGTGAAAGTGA	0.507													46	82	---	---	---	---					-	31663761	G	-	31663761	8	5	50	1	0	1	0	1	0	0	1	0	8856	1014	35	0	1223	0	LIMK2	22	31663761	Splice_Site	DEL	G	TCGA-BB-8601-01A-11D-2394-08		31663761	19640805	75	9663											
SLC25A6	293	broad.mit.edu	37	chrX	1506193	1506193	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgcgcccggactgcaTcatcatgcgccgccgcaccg	5	8	10	18	6	2	0	2	0	0	0	3	1	3	1	5	1	3	2	5	1	0	1			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chrX:1506193T>A	ENST00000381401.5	-	3	1432	c.718A>T	c.(718-720)Atg>Ttg	p.M240L		NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	240					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CCGGACTGCATCATCATGCGC	0.677													35	23					0	0	0	0	A	1506193	T	A	1506193	3	1	50	1	0	0	0	0	1	0	0	0	14601	1435	50	5	186	5	SLC25A6	23	1506193	Missense_Mutation	SNP	T	TCGA-BB-8601-01A-11D-2394-08		1506193	153764367	76	9664											
SKI	6497	broad.mit.edu	37	chr1	2160602	2160602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaactcggtgctgcgcGacttctcgctgcagcagatc	6	11	10	14	4	2	1	1	0	2	1	6	2	2	1	0	1	5	4	0	1	1	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:2160602G>T	ENST00000378536.4	+	1	469	c.397G>T	c.(397-399)Gac>Tac	p.D133Y		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	133					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GGTGCTGCGCGACTTCTCGCT	0.622													5	27					0.014758	0.014927	1	0	T	2160602	G	T	2160602	3	4	51	1	0	0	0	0	1	0	0	0	14445	1058	37	3	399	3	SKI	1	2160602	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08		2160602	247090019	1	9665											
TMEM51	55092	broad.mit.edu	37	chr1	15541866	15541866	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaagcagcggcagggcGaggacctggcccatgtccag	10	3	17	11	2	0	1	0	0	0	1	1	4	1	3	3	5	2	2	3	5	1	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:15541866G>T	ENST00000428417.1	+	2	729	c.283G>T	c.(283-285)Gag>Tag	p.E95*	TMEM51_ENST00000376008.2_Nonsense_Mutation_p.E95*|TMEM51_ENST00000376014.3_Nonsense_Mutation_p.E95*|TMEM51_ENST00000400796.3_Nonsense_Mutation_p.E95*|TMEM51_ENST00000434578.2_Nonsense_Mutation_p.E95*	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	95						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GCGGCAGGGCGAGGACCTGGC	0.652													16	38					3.32936e-07	3.50111e-07	1	0	T	15541866	G	T	15541866	4	4	51	1	0	0	0	0	0	1	0	0	16271	1059	37	3	285	3	TMEM51	1	15541866	Nonsense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	13381264	15541866	233708755	2	9666											
EPHA2	1969	broad.mit.edu	37	chr1	16456780	16456780	+	Silent	SNP	G	G	A																															gcacgaatgagcttgtccagGatgctgacgatgtcagcgaa																										TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:16456780G>A	ENST00000358432.5	-	15	2764	c.2610C>T	c.(2608-2610)atC>atT	p.I870I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	870	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GCTTGTCCAGGATGCTGACGA	0.602													12	74					0	0	0	0	A	16456780	G	A	16456780	2	1	51	1	0	0	0	0	0	0	0	1	5205	1164	41	2		2	EPHA2	1	16456780	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	914914	16456780	232793841	3	9667	90	2									
EPHA2	1969	broad.mit.edu	37	chr1	16456789	16456789	+	Silent	SNP	G	G	A																															agcttgtccaggatgctgacGatgtcagcgaacttggggcg																										TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:16456789G>A	ENST00000358432.5	-	15	2755	c.2601C>T	c.(2599-2601)atC>atT	p.I867I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	867	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	p.I867I(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGATGCTGACGATGTCAGCGA	0.622													14	66					0	0	0	0	A	16456789	G	A	16456789	2	1	51	1	0	0	0	0	0	0	0	1	5205	1048	37	1		1	EPHA2	1	16456789	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	9	16456789	232793832	4	9668	90	2									
UBR4	23352	broad.mit.edu	37	chr1	19525298	19525298	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaggaacacccaccgtctGaaagtgtcttcactgtttgg	11	10	9	11	1	3	1	1	1	2	0	3	2	3	2	2	2	1	1	2	2	3	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:19525298G>C	ENST00000375267.2	-	4	506	c.503C>G	c.(502-504)tCa>tGa	p.S168*	UBR4_ENST00000375217.2_Nonsense_Mutation_p.S168*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.S168*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.S168*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	168					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCCACCGTCTGAAAGTGTCTT	0.498													33	89					0	0	0	0	C	19525298	G	C	19525298	4	2	51	1	0	0	0	0	0	1	0	0	17000	1294	45	2	15460	2	UBR4	1	19525298	Nonsense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	3068509	19525298	229725323	5	9669											
CAPZB	832	broad.mit.edu	37	chr1	19705096	19705096	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttctcagccgagctgaCggcatggccccatcctccaa	8	8	9	16	2	1	1	1	1	1	0	4	2	3	1	5	2	3	3	5	2	1	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:19705096C>T	ENST00000264203.3	-	5	838	c.345G>A	c.(343-345)ccG>ccA	p.P115P	CAPZB_ENST00000401084.2_Silent_p.P89P|CAPZB_ENST00000375144.1_Silent_p.P77P|CAPZB_ENST00000433834.1_Silent_p.P118P|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000375142.1_Silent_p.P89P|CAPZB_ENST00000264202.6_Silent_p.P89P			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	89					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		GCCGAGCTGACGGCATGGCCC	0.502													15	70					0	0	0	0	T	19705096	C	T	19705096	2	4	51	1	0	0	0	0	0	0	0	1	2668	523	19	1		1	CAPZB	1	19705096	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	179798	19705096	229545525	6	9670											
TIE1	7075	broad.mit.edu	37	chr1	43770753	43770753	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcgcggcttctccaagccctCggacctcgtgggcgtcttct	3	11	11	16	5	3	0	0	0	3	0	7	1	3	1	3	3	1	1	3	3	1	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:43770753C>G	ENST00000372476.3	+	2	369	c.290C>G	c.(289-291)tCg>tGg	p.S97W	TIE1_ENST00000538015.1_Missense_Mutation_p.S97W|TIE1_ENST00000441333.2_Missense_Mutation_p.S97W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	97	Ig-like C2-type 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCAAGCCCTCGGACCTCGTG	0.706													15	21					0	0	0	0	G	43770753	C	G	43770753	3	3	51	1	0	0	0	0	1	0	0	0	15987	893	31	3	296	3	TIE1	1	43770753	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	24065657	43770753	205479868	7	9671											
CYP4A22	284541	broad.mit.edu	37	chr1	47607908	47607908	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actctgtacgagtgatgctgGtgagtccatgtctctctcct	6	14	10	11	1	3	2	0	2	3	0	6	3	4	2	2	1	2	2	2	1	1	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:47607908G>T	ENST00000371891.3	+	4	541		c.e4+1		CYP4A22_ENST00000371890.3_Splice_Site|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_Splice_Site|CYP4A22_ENST00000294337.3_Splice_Site	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22							endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTGATGCTGGTGAGTCCATG	0.557													8	66					0.000157383	0.000162916	1	0	T	47607908	G	T	47607908	5	4	51	1	0	0	0	0	0	0	1	0	4216	1275	44	4	525	4	CYP4A22	1	47607908	Splice_Site	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	3837155	47607908	201642713	8	9672											
COL24A1	255631	broad.mit.edu	37	chr1	86591642	86591642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgcagtctatttttatttCtaatgctgaagagaaatgca	13	16	7	5	0	2	2	0	1	2	1	2	3	2	2	0	0	3	3	0	0	5	7			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:86591642C>G	ENST00000370571.2	-	3	743	c.377G>C	c.(376-378)aGa>aCa	p.R126T	COL24A1_ENST00000436319.1_Missense_Mutation_p.R126T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	126	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTTTTATTTCTAATGCTGAA	0.368													15	39					0	0	0	0	G	86591642	C	G	86591642	3	3	51	1	0	0	0	0	1	0	0	0	3713	913	32	2	4999	2	COL24A1	1	86591642	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	38983734	86591642	162658979	9	9673											
HRNR	388697	broad.mit.edu	37	chr1	152188128	152188128	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctgagcgagactctcGgtgacctaagccagaagagt	10	8	12	11	2	1	5	0	2	1	3	3	6	2	5	3	1	2	0	3	1	2	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:152188128G>A	ENST00000368801.2	-	3	6052	c.5977C>T	c.(5977-5979)Cga>Tga	p.R1993*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1993					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGAGACTCTCGGTGACCTAAG	0.572													68	1237					0	0	0	0	A	152188128	G	A	152188128	4	1	51	1	0	0	0	0	0	1	0	0	7409	1124	39	1	2579	1	HRNR	1	152188128	Nonsense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	65596486	152188128	97062493	10	9674											
SYT11	23208	broad.mit.edu	37	chr1	155837784	155837784	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggtggtggccggcctcatCggggcctctgtgctggtggt	1	10	18	12	3	2	0	1	0	1	0	3	0	2	0	4	8	1	1	4	8	0	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:155837784C>T	ENST00000368324.4	+	2	316	c.63C>T	c.(61-63)atC>atT	p.I21I	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	21						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CCGGCCTCATCGGGGCCTCTG	0.582													7	57					0	0	0	0	T	155837784	C	T	155837784	2	4	51	1	0	0	0	0	0	0	0	1	15558	874	31	1		1	SYT11	1	155837784	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	3649656	155837784	93412837	11	9675											
RGS4	5999	broad.mit.edu	37	chr1	163044203	163044203	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggcccagaagaagattttCaacctgatggagaaggattc	14	8	12	7	0	1	5	1	1	0	4	2	8	1	6	2	3	1	0	2	3	4	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:163044203C>G	ENST00000421743.2	+	6	922	c.762C>G	c.(760-762)ttC>ttG	p.F254L	RGS4_ENST00000527809.1_Missense_Mutation_p.F139L|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367909.6_Missense_Mutation_p.F157L|RGS4_ENST00000367906.3_Missense_Mutation_p.F139L	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	157					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						AGAAGATTTTCAACCTGATGG	0.507													54	391					0	0	0	0	G	163044203	C	G	163044203	3	3	51	1	0	0	0	0	1	0	0	0	13390	825	29	2	784	2	RGS4	1	163044203	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	7206419	163044203	86206418	12	9676											
ZBTB37	84614	broad.mit.edu	37	chr1	173839393	173839393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggaacatacaattggaGattcctgacttcagcaactc	12	10	10	9	0	1	2	1	1	0	1	3	4	2	3	1	3	4	1	1	3	4	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:173839393G>T	ENST00000367704.1	+	3	429	c.30G>T	c.(28-30)gaG>gaT	p.E10D	ZBTB37_ENST00000432989.1_Missense_Mutation_p.E10D|ZBTB37_ENST00000367701.4_Missense_Mutation_p.E10D|ZBTB37_ENST00000427304.1_Missense_Mutation_p.E10D|ZBTB37_ENST00000367702.1_Missense_Mutation_p.E10D			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						TACAATTGGAGATTCCTGACT	0.433													5	31					0.014758	0.014927	1	0	T	173839393	G	T	173839393	3	4	51	1	0	0	0	0	1	0	0	0	17633	933	33	2	32	2	ZBTB37	1	173839393	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	10795190	173839393	75411228	13	9677											
CEP350	9857	broad.mit.edu	37	chr1	180031466	180031466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagaccaccataaaactaCaggagaaattgaagtctgca	18	6	8	9	0	1	3	0	1	1	2	1	5	1	3	2	1	3	1	2	1	5	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:180031466C>A	ENST00000367607.3	+	26	5792	c.5374C>A	c.(5374-5376)Cag>Aag	p.Q1792K		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1792						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CATAAAACTACAGGAGAAATT	0.403													3	17					0.115264	0.115701	1	0	A	180031466	C	A	180031466	3	1	51	1	0	0	0	0	1	0	0	0	3283	479	17	4	5472	4	CEP350	1	180031466	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	6192073	180031466	69219155	14	9678											
LAMC1	3915	broad.mit.edu	37	chr1	183091075	183091075	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgagacctgtgatcctgaGacaggtgagatgatctttgg	10	10	14	7	1	1	5	0	4	1	3	2	8	2	5	2	2	1	0	2	2	0	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:183091075G>C	ENST00000258341.4	+	12	2465	c.2208G>C	c.(2206-2208)gaG>gaC	p.E736D		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	736	Laminin EGF-like 6.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGATCCTGAGACAGGTGAGA	0.438													14	29					0	0	0	0	C	183091075	G	C	183091075	3	2	51	1	0	0	0	0	1	0	0	0	8667	933	33	2	2254	2	LAMC1	1	183091075	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	3059609	183091075	66159546	15	9679											
TPR	7175	broad.mit.edu	37	chr1	186315292	186315292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttccatgctctctatggctCttcttttatcatcctgaagt	6	18	6	11	0	4	1	1	1	3	0	7	1	6	1	2	1	1	3	2	1	3	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:186315292C>T	ENST00000367478.3	-	23	3367	c.3071G>A	c.(3070-3072)aGa>aAa	p.R1024K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1024					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCTATGGCTCTTCTTTTATC	0.333			T	NTRK1	papillary thyroid								10	39					0	0	0	0	T	186315292	C	T	186315292	3	4	51	1	0	0	0	0	1	0	0	0	16511	913	32	2	4136	2	TPR	1	186315292	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	3224217	186315292	62935329	16	9680											
C1orf106	55765	broad.mit.edu	37	chr1	200867570	200867570	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgacaccgacagtggcatCatcctgcagtctggtgagtg	9	8	13	11	2	2	1	1	1	1	0	3	3	3	1	2	2	2	2	2	2	0	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:200867570C>T	ENST00000367342.4	+	2	497	c.297C>T	c.(295-297)atC>atT	p.I99I	C1orf106_ENST00000413687.2_Silent_p.I14I	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	99										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						ACAGTGGCATCATCCTGCAGT	0.612													39	119					0	0	0	0	T	200867570	C	T	200867570	2	4	51	1	0	0	0	0	0	0	0	1	1999	816	29	2		2	C1orf106	1	200867570	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	14552278	200867570	48383051	17	9681											
CAPN2	824	broad.mit.edu	37	chr1	223943283	223943283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcctggtggggctcattCagaagcaccgacggcggcag	7	7	14	13	3	2	1	2	0	0	1	3	2	3	1	3	5	1	3	3	5	1	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:223943283C>G	ENST00000295006.5	+	10	1546	c.1237C>G	c.(1237-1239)Cag>Gag	p.Q413E	CAPN2_ENST00000433674.2_Missense_Mutation_p.Q335E	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	413	Domain III.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GGGGCTCATTCAGAAGCACCG	0.607													27	52					0	0	0	0	G	223943283	C	G	223943283	3	3	51	1	0	0	0	0	1	0	0	0	2652	827	29	2	1282	2	CAPN2	1	223943283	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	23075713	223943283	25307338	18	9682											
PRSS38	339501	broad.mit.edu	37	chr1	228003458	228003458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgggcccactcgggccctCtgccctgggccttctgctgc	2	9	12	18	1	2	0	0	0	2	0	3	0	2	0	4	3	3	1	4	3	0	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:228003458C>T	ENST00000366757.3	+	1	65	c.41C>T	c.(40-42)tCt>tTt	p.S14F		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	14					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTCGGGCCCTCTGCCCTGGGC	0.667													10	32					0	0	0	0	T	228003458	C	T	228003458	3	4	51	1	0	0	0	0	1	0	0	0	12706	913	32	2	43	2	PRSS38	1	228003458	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	4060175	228003458	21247163	19	9683											
RYR2	6262	broad.mit.edu	37	chr1	237841360	237841360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctacagatggtggcagcaGaggcaaaggagaacatttcc	14	7	12	8	0	1	3	0	0	1	3	2	4	2	3	1	4	3	3	1	4	3	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:237841360G>A	ENST00000366574.2	+	61	9160	c.8843G>A	c.(8842-8844)aGa>aAa	p.R2948K	RYR2_ENST00000542537.1_Missense_Mutation_p.R2932K|RYR2_ENST00000360064.6_Missense_Mutation_p.R2946K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2948	Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTGGCAGCAGAGGCAAAGGA	0.348													3	10					0	0	0	0	A	237841360	G	A	237841360	3	1	51	1	0	0	0	0	1	0	0	0	13854	942	33	2	9085	2	RYR2	1	237841360	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	9837902	237841360	11409261	20	9684											
KIF26B	55083	broad.mit.edu	37	chr1	245850699	245850699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacgggcccctcgaatGctgagaccagagcagagcag	10	4	13	14	2	0	3	0	1	0	3	1	5	0	3	4	1	4	3	4	1	1	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:245850699G>A	ENST00000366518.4	+	9	3375	c.3271G>A	c.(3271-3273)Gct>Act	p.A1091T	KIF26B_ENST00000407071.2_Missense_Mutation_p.A1472T			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1472					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCCCTCGAATGCTGAGACCAG	0.597													4	13					0	0	0	0	A	245850699	G	A	245850699	3	1	51	1	0	0	0	0	1	0	0	0	8346	1319	46	4	4460	4	KIF26B	1	245850699	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	8009339	245850699	3399922	21	9685											
NLRP3	114548	broad.mit.edu	37	chr1	247582139	247582139	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcaagctggccaggtacctgGaggacctggaggatgtggac	9	6	17	9	0	0	0	0	0	0	0	0	5	0	5	3	7	2	3	3	7	2	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:247582139G>C	ENST00000366497.2	+	2	823	c.43G>C	c.(43-45)Gag>Cag	p.E15Q	NLRP3_ENST00000336119.3_Missense_Mutation_p.E15Q|NLRP3_ENST00000391828.3_Missense_Mutation_p.E15Q|NLRP3_ENST00000348069.2_Missense_Mutation_p.E15Q|NLRP3_ENST00000391827.2_Missense_Mutation_p.E15Q|NLRP3_ENST00000366496.2_Missense_Mutation_p.E15Q|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	15	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGGTACCTGGAGGACCTGGA	0.542													7	81					0	0	0	0	C	247582139	G	C	247582139	3	2	51	1	0	0	0	0	1	0	0	0	10548	1175	41	2	45	2	NLRP3	1	247582139	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	1731440	247582139	1668482	22	9686											
OR2M3	127062	broad.mit.edu	37	chr1	248367272	248367272	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaggtgaccagagcattCatgaagatcttaggaaaggg	15	7	14	5	0	2	4	1	2	1	2	2	6	2	6	1	4	1	1	1	4	4	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:248367272C>G	ENST00000456743.1	+	1	941	c.903C>G	c.(901-903)ttC>ttG	p.F301L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCAGAGCATTCATGAAGATCT	0.428													36	93					0	0	0	0	G	248367272	C	G	248367272	3	3	51	1	0	0	0	0	1	0	0	0	11082	825	29	2	905	2	OR2M3	1	248367272	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	785133	248367272	883349	23	9687											
MYT1L	23040	broad.mit.edu	37	chr2	1855422	1855422	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctacatacctccgatgaGaagcataattgccggtgata	12	11	8	10	2	1	2	0	2	1	1	3	4	2	2	3	1	4	1	3	1	5	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:1855422G>C	ENST00000399161.2	-	19	3512	c.2765C>G	c.(2764-2766)tCt>tGt	p.S922C	MYT1L_ENST00000428368.2_Missense_Mutation_p.S920C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	922					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCTCCGATGAGAAGCATAATT	0.433													13	112					0	0	0	0	C	1855422	G	C	1855422	3	2	51	1	0	0	0	0	1	0	0	0	10177	942	33	2	823	2	MYT1L	2	1855422	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08		1855422	241343951	24	9688											
APOB	338	broad.mit.edu	37	chr2	21232630	21232630	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttctgaatagtctccttCaacttgtattggtgggccaa	9	14	9	9	0	3	1	1	1	2	0	4	1	3	1	2	2	2	2	2	2	5	6			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:21232630C>T	ENST00000233242.1	-	26	7237	c.7110G>A	c.(7108-7110)ttG>ttA	p.L2370L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2370					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAGTCTCCTTCAACTTGTATT	0.368													7	28					0	0	0	0	T	21232630	C	T	21232630	2	4	51	1	0	0	0	0	0	0	0	1	787	825	29	2		2	APOB	2	21232630	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	19377208	21232630	221966743	25	9689											
ITSN2	50618	broad.mit.edu	37	chr2	24480820	24480820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atttgggaaaccatcctcttCctccatgcacctccccaaac	10	10	4	17	0	1	0	0	0	1	0	5	1	5	1	7	1	3	1	7	1	2	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:24480820C>T	ENST00000355123.4	-	23	3268	c.2825G>A	c.(2824-2826)gGa>gAa	p.G942E	ITSN2_ENST00000406921.3_Missense_Mutation_p.G942E|ITSN2_ENST00000361999.3_Missense_Mutation_p.G915E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	942	SH3 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCCTCTTCCTCCATGCAC	0.408													13	90					0	0	0	0	T	24480820	C	T	24480820	3	4	51	1	0	0	0	0	1	0	0	0	7980	855	30	2	2391	2	ITSN2	2	24480820	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	3248190	24480820	218718553	26	9690											
NCOA1	8648	broad.mit.edu	37	chr2	24927966	24927966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaacagtgatgactcgtGgcactgcctccagcccctcc	8	9	9	15	1	0	3	0	3	0	0	3	3	2	3	5	1	3	1	5	1	1	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:24927966G>A	ENST00000405141.1	+	13	1672	c.961G>A	c.(961-963)Ggc>Agc	p.G321S	NCOA1_ENST00000288599.5_Missense_Mutation_p.G321S|NCOA1_ENST00000538539.1_Missense_Mutation_p.G321S|NCOA1_ENST00000407230.1_Missense_Mutation_p.G170S|NCOA1_ENST00000406961.1_Missense_Mutation_p.G321S|NCOA1_ENST00000395856.3_Missense_Mutation_p.G321S|NCOA1_ENST00000348332.3_Missense_Mutation_p.G321S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	321									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGACTCGTGGCACTGCCTC	0.423			T	PAX3	alveolar rhadomyosarcoma								28	77					0	0	0	0	A	24927966	G	A	24927966	3	1	51	1	0	0	0	0	1	0	0	0	10298	1348	47	4	991	4	NCOA1	2	24927966	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	447146	24927966	218271407	27	9691											
CCDC138	165055	broad.mit.edu	37	chr2	109489982	109489982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgctgcttcgagcccCtaagcttgatcttcaaatac	8	13	7	13	1	3	1	1	1	2	0	4	2	3	1	2	0	5	3	2	0	3	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:109489982C>T	ENST00000295124.4	+	14	1829	c.1769C>T	c.(1768-1770)cCt>cTt	p.P590L	CCDC138_ENST00000412964.2_Intron	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	590										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CTTCGAGCCCCTAAGCTTGAT	0.338													6	42					0	0	0	0	T	109489982	C	T	109489982	3	4	51	1	0	0	0	0	1	0	0	0	2797	681	24	4	1823	4	CCDC138	2	109489982	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	84562016	109489982	133709391	28	9692											
MYO7B	4648	broad.mit.edu	37	chr2	128351213	128351213	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcggggaagacaaaaattttCctgagggtgagaccccgagg	12	6	15	8	2	0	3	0	2	0	2	1	6	1	4	3	4	0	0	3	4	3	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:128351213C>T	ENST00000389524.4	+	18	2291	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	MYO7B_ENST00000409816.2_Silent_p.F746F|MYO7B_ENST00000428314.1_Silent_p.F746F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	746	IQ 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAAAAATTTTCCTGAGGGTGA	0.607													16	109					0	0	0	0	T	128351213	C	T	128351213	2	4	51	1	0	0	0	0	0	0	0	1	10153	854	30	2		2	MYO7B	2	128351213	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	18861231	128351213	114848160	29	9693											
XIRP2	129446	broad.mit.edu	37	chr2	168099105	168099105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgaatatgaagagactttCaagccatcatcagttgtgag	14	11	10	6	0	3	4	3	3	0	1	3	5	3	4	1	0	1	1	1	0	4	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:168099105C>G	ENST00000409195.1	+	9	1292	c.1203C>G	c.(1201-1203)ttC>ttG	p.F401L	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F179L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.F401L|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	226					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						AAGAGACTTTCAAGCCATCAT	0.423													11	89					0	0	0	0	G	168099105	C	G	168099105	3	3	51	1	0	0	0	0	1	0	0	0	17526	825	29	2	1233	2	XIRP2	2	168099105	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	39747892	168099105	75100268	30	9694											
UBR3	130507	broad.mit.edu	37	chr2	170938300	170938300	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagcaacagtggatttctCatacttttgatcacatcaat	12	15	6	8	0	3	2	3	2	1	0	4	3	3	3	0	1	3	1	0	1	3	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:170938300C>G	ENST00000272793.5	+	39	5664	c.5614C>G	c.(5614-5616)Cat>Gat	p.H1872D	UBR3_ENST00000418381.1_Missense_Mutation_p.H1872D|UBR3_ENST00000392631.1_Missense_Mutation_p.H693D			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1872					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GTGGATTTCTCATACTTTTGA	0.363													7	55					0	0	0	0	G	170938300	C	G	170938300	3	3	51	1	0	0	0	0	1	0	0	0	16999	826	29	2	5768	2	UBR3	2	170938300	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	2839195	170938300	72261073	31	9695											
TTN	7273	broad.mit.edu	37	chr2	179433158	179433158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttcagcactgacgtcatCaaatttaacaggtccttttg	11	14	6	10	1	3	1	3	1	0	0	4	1	4	1	1	1	2	1	1	1	2	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:179433158C>T	ENST00000589042.1	-	326	77925	c.77701G>A	c.(77701-77703)Gat>Aat	p.D25901N	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16961N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24260N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D17028N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16836N|TTN_ENST00000342992.6_Missense_Mutation_p.D23333N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24260	Fibronectin type-III 88.						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)			CTGACGTCATCAAATTTAACA	0.393													9	36					0	0	0	0	T	179433158	C	T	179433158	3	4	51	1	0	0	0	0	1	0	0	0	16831	826	29	2	30426	2	TTN	2	179433158	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	8494858	179433158	63766215	32	9696											
TTN	7273	broad.mit.edu	37	chr2	179477226	179477226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggaccctccatctttctCaggaactgtccattttaggt	7	13	10	11	0	2	0	1	0	2	0	5	2	4	2	3	4	1	0	3	4	2	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:179477226C>G	ENST00000589042.1	-	266	50250	c.50026G>C	c.(50026-50028)Gag>Cag	p.E16676Q	TTN_ENST00000359218.5_Missense_Mutation_p.E7736Q|TTN_ENST00000591111.1_Missense_Mutation_p.E15035Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7803Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7611Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14108Q|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15035	Fibronectin type-III 21.						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)			CCATCTTTCTCAGGAACTGTC	0.448													6	27					0	0	0	0	G	179477226	C	G	179477226	3	3	51	1	0	0	0	0	1	0	0	0	16831	835	29	2	58055	2	TTN	2	179477226	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	44068	179477226	63722147	33	9697											
ZDBF2	57683	broad.mit.edu	37	chr2	207173957	207173957	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtataaatacagaatgtattGatatagaagataagagctgt	18	12	9	2	0	0	5	0	1	0	4	0	5	0	5	0	0	2	3	0	0	10	8			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:207173957G>C	ENST00000374423.3	+	5	5091	c.4705G>C	c.(4705-4707)Gat>Cat	p.D1569H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1569							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGAATGTATTGATATAGAAGA	0.358													6	17					0	0	0	0	C	207173957	G	C	207173957	3	2	51	1	0	0	0	0	1	0	0	0	17694	1290	45	2	4715	2	ZDBF2	2	207173957	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	27696731	207173957	36025416	34	9698											
GLB1L	79411	broad.mit.edu	37	chr2	220102441	220102441	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccccagaattggtggcttCaacaggccctatagggaagg	10	8	13	10	0	1	1	1	0	0	1	1	2	1	2	3	5	2	1	3	5	5	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:220102441C>T	ENST00000295759.7	-	16	1795	c.1482G>A	c.(1480-1482)ttG>ttA	p.L494L	GLB1L_ENST00000356283.3_Silent_p.L404L|GLB1L_ENST00000392089.2_Silent_p.L494L|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Silent_p.L404L			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	494					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGTGGCTTCAACAGGCCCT	0.433													24	55					0	0	0	0	T	220102441	C	T	220102441	2	4	51	1	0	0	0	0	0	0	0	1	6479	825	29	2		2	GLB1L	2	220102441	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	12928484	220102441	23096932	35	9699											
LRRFIP1	9208	broad.mit.edu	37	chr2	238672203	238672203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggtaaagtctactgacaGaaagtcagcagtggaagccc	14	6	12	9	0	2	2	1	1	1	1	2	3	2	3	1	2	3	3	1	2	5	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:238672203G>A	ENST00000244815.5	+	10	2015	c.1775G>A	c.(1774-1776)aGa>aAa	p.R592K	LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.R616K|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.R560K	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	616	Lys-rich.				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TCTACTGACAGAAAGTCAGCA	0.383													5	22					0	0	0	0	A	238672203	G	A	238672203	3	1	51	1	0	0	0	0	1	0	0	0	9091	942	33	2	2565	2	LRRFIP1	2	238672203	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	18569762	238672203	4527170	36	9700											
ANKMY1	51281	broad.mit.edu	37	chr2	241494435	241494435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccctcagcgggccctcagCttcctcctcttccttctcag	3	11	7	20	2	4	0	3	0	2	0	8	0	7	0	5	1	2	1	5	1	0	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:241494435C>T	ENST00000401804.1	-	3	322	c.184G>A	c.(184-186)Gct>Act	p.A62T	ANKMY1_ENST00000403283.1_Missense_Mutation_p.A141T|ANKMY1_ENST00000536462.1_Missense_Mutation_p.A15T|ANKMY1_ENST00000373318.2_Missense_Mutation_p.A62T|ANKMY1_ENST00000272972.3_5'UTR|ANKMY1_ENST00000361678.4_Missense_Mutation_p.A62T|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000406958.1_Missense_Mutation_p.A62T|ANKMY1_ENST00000405002.1_5'UTR|ANKMY1_ENST00000405523.3_Missense_Mutation_p.A62T|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000462004.1_5'UTR			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	0							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGGCCCTCAGCTTCCTCCTCT	0.592													34	91					0	0	0	0	T	241494435	C	T	241494435	3	4	51	1	0	0	0	0	1	0	0	0	634	797	28	4	2972	4	ANKMY1	2	241494435	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	2822232	241494435	1704938	37	9701											
CLASP2	23122	broad.mit.edu	37	chr3	33661222	33661222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttgtttcccaaaactgttGaaaggtggctacaaaggaag	14	10	10	7	0	0	1	0	1	0	0	1	2	1	2	1	3	2	3	1	3	6	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:33661222G>A	ENST00000399362.4	-	12	1543	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	CLASP2_ENST00000359576.5_Missense_Mutation_p.S397L|CLASP2_ENST00000487200.1_Missense_Mutation_p.S170L|CLASP2_ENST00000480013.1_Missense_Mutation_p.S164L|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000313350.6_Missense_Mutation_p.S170L|CLASP2_ENST00000468888.2_Missense_Mutation_p.S398L|CLASP2_ENST00000539981.1_Missense_Mutation_p.S149L|CLASP2_ENST00000333778.6_Missense_Mutation_p.S174L|CLASP2_ENST00000461133.3_Missense_Mutation_p.S164L	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	398										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CAAAACTGTTGAAAGGTGGCT	0.323													3	8					0	0	0	0	A	33661222	G	A	33661222	3	1	51	1	0	0	0	0	1	0	0	0	3485	1294	45	2	3438	2	CLASP2	3	33661222	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08		33661222	164361208	38	9702											
CCR8	1237	broad.mit.edu	37	chr3	39374086	39374086	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgctttttgtcttctccttCccctttcagacctactatct	4	19	3	15	0	4	1	1	0	3	1	6	1	5	1	4	0	2	1	4	0	2	7			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:39374086C>T	ENST00000326306.4	+	2	402	c.264C>T	c.(262-264)ttC>ttT	p.F88F	CCR8_ENST00000414803.1_Intron|CCR8_ENST00000545843.1_Intron	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	88					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TCTTCTCCTTCCCCTTTCAGA	0.488													30	147					0	0	0	0	T	39374086	C	T	39374086	2	4	51	1	0	0	0	0	0	0	0	1	2976	854	30	2		2	CCR8	3	39374086	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	5712864	39374086	158648344	39	9703											
CCDC13	152206	broad.mit.edu	37	chr3	42799702	42799702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccaagggctcctcttggtCgtcagctctgcttttgaggc	4	13	11	13	1	3	1	1	1	2	0	6	1	5	1	2	3	2	3	2	3	1	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:42799702C>T	ENST00000310232.6	-	2	219	c.136G>A	c.(136-138)Gac>Aac	p.D46N	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	46										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCCTCTTGGTCGTCAGCTCTG	0.493													20	52					0	0	0	0	T	42799702	C	T	42799702	3	4	51	1	0	0	0	0	1	0	0	0	2790	884	31	1	2071	1	CCDC13	3	42799702	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	3425616	42799702	155222728	40	9704											
TGM4	7047	broad.mit.edu	37	chr3	44938204	44938204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatttcccaaaatagtttGagaaaaatgtcctggactgc	13	13	7	8	0	1	1	1	1	0	1	3	3	3	2	2	1	1	1	2	1	5	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:44938204G>C	ENST00000296125.4	+	6	621	c.553G>C	c.(553-555)Gag>Cag	p.E185Q		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	185					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AAAATAGTTTGAGAAAAATGT	0.493													14	36					0	0	0	0	C	44938204	G	C	44938204	3	2	51	1	0	0	0	0	1	0	0	0	15926	1291	45	2	575	2	TGM4	3	44938204	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	2138502	44938204	153084226	41	9705											
CDCP1	64866	broad.mit.edu	37	chr3	45127156	45127156	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctggctccatgggctcctGagtgttcagtaagggaatgt	7	12	14	8	0	1	1	1	1	0	0	3	2	3	2	2	3	1	5	2	3	2	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:45127156G>C	ENST00000296129.1	-	9	2619	c.2485C>G	c.(2485-2487)Cag>Gag	p.Q829E		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	829						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ATGGGCTCCTGAGTGTTCAGT	0.522													27	106					0	0	0	0	C	45127156	G	C	45127156	3	2	51	1	0	0	0	0	1	0	0	0	3122	1299	45	2	29	2	CDCP1	3	45127156	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	188952	45127156	152895274	42	9706											
CADM2	253559	broad.mit.edu	37	chr3	85851334	85851334	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaacagactctgtactttGacgacaagaaaggtgaatac	15	9	8	9	1	2	4	1	2	1	2	2	5	2	4	0	1	3	1	0	1	6	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:85851334G>C	ENST00000383699.3	+	3	853	c.226G>C	c.(226-228)Gac>Cac	p.D76H	CADM2_ENST00000407528.2_Missense_Mutation_p.D67H|CADM2_ENST00000405615.2_Missense_Mutation_p.D69H|CADM2-AS2_ENST00000467225.1_RNA	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	67	Ig-like V-type.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TCTGTACTTTGACGACAAGAA	0.343													7	40					0	0	0	0	C	85851334	G	C	85851334	3	2	51	1	0	0	0	0	1	0	0	0	2592	1290	45	2	276	2	CADM2	3	85851334	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	40724178	85851334	112171096	43	9707											
OR5H6	79295	broad.mit.edu	37	chr3	97983171	97983171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttcagaggacatgcagtGaggagatggaagaggaaaat	15	9	14	3	0	1	4	1	1	0	3	1	8	1	7	0	4	1	1	0	4	3	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:97983171G>A	ENST00000383696.2	+	1	84	c.43G>A	c.(43-45)Gag>Aag	p.E15K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GACATGCAGTGAGGAGATGGA	0.383													23	101					0	0	0	0	A	97983171	G	A	97983171	3	1	51	1	0	0	0	0	1	0	0	0	11234	1291	45	2	45	2	OR5H6	3	97983171	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	12131837	97983171	100039259	44	9708											
KIAA1524	57650	broad.mit.edu	37	chr3	108278852	108278852	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccattatgtcagatattctCacatcacaaatctgatcctt	12	15	3	11	0	4	2	3	1	2	1	7	2	6	2	2	0	0	0	2	0	3	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:108278852C>T	ENST00000295746.8	-	15	1927	c.1851G>A	c.(1849-1851)gtG>gtA	p.V617V	KIAA1524_ENST00000491772.1_Silent_p.V458V	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	617						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGATATTCTCACATCACAAA	0.254													5	35					0	0	0	0	T	108278852	C	T	108278852	2	4	51	1	0	0	0	0	0	0	0	1	8290	813	29	2		2	KIAA1524	3	108278852	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	10295681	108278852	89743578	45	9709											
HEG1	57493	broad.mit.edu	37	chr3	124746348	124746348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcaggtgaagactttctGaggctgaaaacagacaaaaa	17	7	11	6	0	1	5	0	3	1	2	1	5	1	5	0	3	1	2	0	3	5	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:124746348G>A	ENST00000311127.4	-	3	681	c.614C>T	c.(613-615)tCa>tTa	p.S205L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	205						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AAGACTTTCTGAGGCTGAAAA	0.423													12	29					0	0	0	0	A	124746348	G	A	124746348	3	1	51	1	0	0	0	0	1	0	0	0	7094	1294	45	2	3591	2	HEG1	3	124746348	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	16467496	124746348	73276082	46	9710											
SLC7A14	57709	broad.mit.edu	37	chr3	170216564	170216564	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgccaggttcagcacattGagaacattgttgaagcctat	12	11	9	9	0	1	2	1	2	0	1	1	3	1	2	2	1	4	3	2	1	3	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:170216564G>C	ENST00000231706.4	-	4	966	c.651C>G	c.(649-651)ctC>ctG	p.L217L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	217						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCAGCACATTGAGAACATTGT	0.507													29	96					0	0	0	0	C	170216564	G	C	170216564	2	2	51	1	0	0	0	0	0	0	0	1	14784	1277	45	2		2	SLC7A14	3	170216564	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	45470216	170216564	27805866	47	9711											
CRYGS	1427	broad.mit.edu	37	chr3	186256703	186256703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcggtggtttcatacatctGaccactaaaatcccctttct	9	15	5	12	1	3	1	1	1	2	0	5	1	4	1	3	2	1	1	3	2	3	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:186256703G>C	ENST00000392499.2	-	4	658	c.319C>G	c.(319-321)Cag>Gag	p.Q107E	CRYGS_ENST00000307944.5_Missense_Mutation_p.Q107E	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	107	Beta/gamma crystallin 'Greek key' 3.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		TCATACATCTGACCACTAAAA	0.433													7	35					0	0	0	0	C	186256703	G	C	186256703	3	2	51	1	0	0	0	0	1	0	0	0	3949	1299	45	2	221	2	CRYGS	3	186256703	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	16040139	186256703	11765727	48	9712											
LEPREL1	55214	broad.mit.edu	37	chr3	189688630	189688630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttagcatccatctctGtgaatatgaattctcctcct	9	15	5	12	0	3	2	0	2	3	0	7	2	5	2	3	0	1	1	3	0	4	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:189688630G>A	ENST00000319332.5	-	13	2065	c.1868C>T	c.(1867-1869)aCa>aTa	p.T623I	LEPREL1_ENST00000427335.2_Missense_Mutation_p.T442I	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	623	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATCCATCTCTGTGAATATGAA	0.313													12	41					0	0	0	0	A	189688630	G	A	189688630	3	1	51	1	0	0	0	0	1	0	0	0	8783	1377	48	4	270	4	LEPREL1	3	189688630	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	3431927	189688630	8333800	49	9713											
TMEM129	92305	broad.mit.edu	37	chr4	1719932	1719932	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggccacacggatggtgagGagctgcacgggcaagttcga	9	6	16	10	3	0	1	0	1	0	0	1	4	0	3	1	5	2	4	1	5	1	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:1719932G>A	ENST00000382936.3	-	2	1120	c.627C>T	c.(625-627)ctC>ctT	p.L209L	TMEM129_ENST00000536901.1_Silent_p.L209L|TMEM129_ENST00000303277.2_Silent_p.L209L	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	transmembrane protein 129	209						integral to membrane				lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			GGATGGTGAGGAGCTGCACGG	0.637													3	12					0	0	0	0	A	1719932	G	A	1719932	2	1	51	1	0	0	0	0	0	0	0	1	16136	1161	41	2		2	TMEM129	4	1719932	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08		1719932	189434344	50	9714											
ZBTB49	166793	broad.mit.edu	37	chr4	4322525	4322525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctggtgacgagagcccaGatgtgctggaggagctcagc	10	6	16	9	1	1	3	1	1	0	2	1	6	1	5	1	3	5	3	1	3	1	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:4322525G>C	ENST00000337872.4	+	8	1901	c.1780G>C	c.(1780-1782)Gat>Cat	p.D594H	ZBTB49_ENST00000538529.1_Missense_Mutation_p.D77H|ZBTB49_ENST00000355834.3_Missense_Mutation_p.D472H	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CGAGAGCCCAGATGTGCTGGA	0.562													9	54					0	0	0	0	C	4322525	G	C	4322525	3	2	51	1	0	0	0	0	1	0	0	0	17645	942	33	2	1806	2	ZBTB49	4	4322525	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	2602593	4322525	186831751	51	9715											
WDR1	9948	broad.mit.edu	37	chr4	10099491	10099491	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgcccacagaagagccactAtcccagaggaagactgctcc	12	5	9	15	1	0	4	0	0	0	4	3	5	2	5	4	1	2	1	4	1	3	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:10099491A>C	ENST00000382452.2	-	5	684	c.402T>G	c.(400-402)gaT>gaG	p.D134E	WDR1_ENST00000382451.2_Intron|WDR1_ENST00000499869.2_Missense_Mutation_p.D134E|WDR1_ENST00000502702.1_Intron	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	134					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AAGAGCCACTATCCCAGAGGA	0.488													7	33					0	0	0	0	C	10099491	A	C	10099491	3	2	51	1	0	0	0	0	1	0	0	0	17368	446	16	5	1462	5	WDR1	4	10099491	Missense_Mutation	SNP	A	TCGA-BB-A5HU-01A-11D-A28R-08	5776966	10099491	181054785	52	9716											
SLIT2	9353	broad.mit.edu	37	chr4	20535220	20535220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagcaacaataagatcacaGatattgaggagggagcattt	16	10	10	5	0	1	3	1	1	0	2	1	5	1	5	0	2	3	2	0	2	5	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:20535220G>A	ENST00000504154.1	+	18	1966	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	SLIT2_ENST00000273739.5_Missense_Mutation_p.D576N|SLIT2_ENST00000503823.1_Missense_Mutation_p.D564N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D568N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	572					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TAAGATCACAGATATTGAGGA	0.318													6	54					0	0	0	0	A	20535220	G	A	20535220	3	1	51	1	0	0	0	0	1	0	0	0	14828	942	33	2	1784	2	SLIT2	4	20535220	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	10435729	20535220	170619056	53	9717											
YIPF7	285525	broad.mit.edu	37	chr4	44626764	44626764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaggcagccaatggcactCatgccatacacataaccaaa	17	5	6	13	0	1	0	1	0	0	0	1	0	1	0	3	2	4	2	3	2	5	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:44626764C>T	ENST00000332990.5	-	5	550	c.534G>A	c.(532-534)atG>atA	p.M178I		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	178						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						CAATGGCACTCATGCCATACA	0.493													4	16					0	0	0	0	T	44626764	C	T	44626764	3	4	51	1	0	0	0	0	1	0	0	0	17579	826	29	2	316	2	YIPF7	4	44626764	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	24091544	44626764	146527512	54	9718											
FRYL	285527	broad.mit.edu	37	chr4	48546828	48546828	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcttaaaaacagaaacCacatgtttcaaaaatgtagt	18	10	6	7	0	1	1	1	0	0	1	1	2	1	1	1	0	3	3	1	0	7	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:48546828C>A	ENST00000358350.4	-	43	5977	c.5373G>T	c.(5371-5373)gtG>gtT	p.V1791V	FRYL_ENST00000503238.1_Silent_p.V1791V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Silent_p.V1791V|FRYL_ENST00000507873.2_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1791					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAACAGAAACCACATGTTTCA	0.338													13	36					5.50884e-06	5.77013e-06	1	0	A	48546828	C	A	48546828	2	1	51	1	0	0	0	0	0	0	0	1	6112	581	21	4		4	FRYL	4	48546828	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	3920064	48546828	142607448	55	9719											
LPHN3	23284	broad.mit.edu	37	chr4	62453119	62453119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctcagatggagaatatccGatgttatctgccagatgcct	10	12	10	9	1	2	3	1	0	1	3	3	5	3	3	3	1	3	2	3	1	3	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:62453119G>A	ENST00000512091.1	+	4	977	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	LPHN3_ENST00000509896.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R77Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	77	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAGAATATCCGATGTTATCTG	0.398													7	23					0	0	0	0	A	62453119	G	A	62453119	3	1	51	1	0	0	0	0	1	0	0	0	8981	1058	37	1	236	1	LPHN3	4	62453119	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	13906291	62453119	128701157	56	9720											
ADAMTS3	9508	broad.mit.edu	37	chr4	73161471	73161471	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccattttattatcactttTcctacggcatccatatttag	10	17	4	10	1	1	0	1	0	0	0	3	1	3	0	3	1	1	1	3	1	5	9			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:73161471T>C	ENST00000286657.4	-	19	2659	c.2623A>G	c.(2623-2625)Aaa>Gaa	p.K875E		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	875	TSP type-1 2.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTATCACTTTTCCTACGGCAT	0.373													9	57					0	0	0	0	C	73161471	T	C	73161471	3	2	51	1	0	0	0	0	1	0	0	0	267	1792	62	5	1010	5	ADAMTS3	4	73161471	Missense_Mutation	SNP	T	TCGA-BB-A5HU-01A-11D-A28R-08	10708352	73161471	117992805	57	9721											
ANKRD50	57182	broad.mit.edu	37	chr4	125590426	125590426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcgaccaatttcctgctGagctgaaggtatcataattt	12	13	8	8	1	1	3	1	2	0	1	3	4	2	3	2	1	2	3	2	1	4	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:125590426G>C	ENST00000504087.1	-	4	5043	c.4006C>G	c.(4006-4008)Cag>Gag	p.Q1336E	ANKRD50_ENST00000515641.1_Missense_Mutation_p.Q1157E	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1336								p.Q1336*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATTTCCTGCTGAGCTGAAGGT	0.403													14	109					0	0	0	0	C	125590426	G	C	125590426	3	2	51	1	0	0	0	0	1	0	0	0	676	1299	45	2	287	2	ANKRD50	4	125590426	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	52428955	125590426	65563850	58	9722											
FAT4	79633	broad.mit.edu	37	chr4	126411726	126411726	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaacccaaaaccagatatCattgaaagggaaaaccccta	18	5	8	10	0	1	2	1	1	0	1	1	4	1	4	4	2	3	0	4	2	8	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:126411726C>T	ENST00000394329.3	+	17	13762	c.13749C>T	c.(13747-13749)atC>atT	p.I4583I	FAT4_ENST00000335110.5_Silent_p.I2824I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4583					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AACCAGATATCATTGAAAGGG	0.478													13	71					0	0	0	0	T	126411726	C	T	126411726	2	4	51	1	0	0	0	0	0	0	0	1	5737	816	29	2		2	FAT4	4	126411726	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	821300	126411726	64742550	59	9723											
MFSD8	256471	broad.mit.edu	37	chr4	128865003	128865003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaggcagttggctgccaCggaaatcaagatggagacaa	15	6	13	7	1	1	3	1	0	0	3	1	5	1	4	1	4	1	3	1	4	4	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:128865003C>T	ENST00000296468.3	-	5	470	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	MFSD8_ENST00000513559.1_Missense_Mutation_p.V70M|MFSD8_ENST00000541133.1_Missense_Mutation_p.V70M|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	115					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TTGGCTGCCACGGAAATCAAG	0.413													17	88					0	0	0	0	T	128865003	C	T	128865003	3	4	51	1	0	0	0	0	1	0	0	0	9607	536	19	1	1249	1	MFSD8	4	128865003	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	2453277	128865003	62289273	60	9724											
NAA15	80155	broad.mit.edu	37	chr4	140270652	140270652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actatgtcgtttggaagatgCtgcagatgtttatagaggat	11	14	12	4	1	0	3	0	0	0	3	1	5	0	5	0	2	2	4	0	2	4	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:140270652C>T	ENST00000296543.5	+	7	1051	c.728C>T	c.(727-729)gCt>gTt	p.A243V	NAA15_ENST00000398947.1_Missense_Mutation_p.A243V|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	243					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTGGAAGATGCTGCAGATGTT	0.338													4	18					0	0	0	0	T	140270652	C	T	140270652	3	4	51	1	0	0	0	0	1	0	0	0	10188	797	28	4	754	4	NAA15	4	140270652	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	11405649	140270652	50883624	61	9725											
CASP3	836	broad.mit.edu	37	chr4	185550591	185550591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttgtcggcatactgtttCagcatggcacaaagcgactg	10	10	11	10	2	1	0	1	0	0	0	2	1	1	0	0	2	4	5	0	2	2	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:185550591C>T	ENST00000308394.4	-	8	931	c.669G>A	c.(667-669)ctG>ctA	p.L223L	CASP3_ENST00000523916.1_Silent_p.L223L|CASP3_ENST00000393588.4_Silent_p.*183*|CASP3_ENST00000393585.2_Silent_p.*183*|CASP3_ENST00000517513.1_Silent_p.*183*	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	223					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	CATACTGTTTCAGCATGGCAC	0.418													23	49					0	0	0	0	T	185550591	C	T	185550591	2	4	51	1	0	0	0	0	0	0	0	1	2697	813	29	2		2	CASP3	4	185550591	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	45279939	185550591	5603685	62	9726											
ZNF622	90441	broad.mit.edu	37	chr5	16465250	16465250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactggagccggggtggtttCtcactcgggtctcggtcgtg	3	11	16	11	4	2	0	1	0	2	0	6	1	2	1	1	6	1	1	1	6	0	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:16465250C>T	ENST00000308683.2	-	1	651	c.525G>A	c.(523-525)gaG>gaA	p.E175E		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	175						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GGGGTGGTTTCTCACTCGGGT	0.632													50	135					0	0	0	0	T	16465250	C	T	16465250	2	4	51	1	0	0	0	0	0	0	0	1	18141	912	32	2		2	ZNF622	5	16465250	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08		16465250	164450010	63	9727											
AMACR	23600	broad.mit.edu	37	chr5	34004719	34004719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacccttgccagtgcgtgtgCggtcaaaaagagccattata	11	9	11	10	2	1	1	1	0	0	1	1	2	1	1	3	1	4	0	3	1	4	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:34004719C>T	ENST00000335606.6	-	3	600	c.512G>A	c.(511-513)cGc>cAc	p.R171H	AMACR_ENST00000441713.2_Intron|AMACR_ENST00000382072.2_Intron|AMACR_ENST00000514195.1_Intron|AMACR_ENST00000502637.1_Missense_Mutation_p.R171H|AMACR_ENST00000382085.3_Missense_Mutation_p.R171H	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	171					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AGTGCGTGTGCGGTCAAAAAG	0.478													4	125					0	0	0	0	T	34004719	C	T	34004719	3	4	51	1	0	0	0	0	1	0	0	0	562	768	27	1	978	1	AMACR	5	34004719	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	17539469	34004719	146910541	64	9728											
GDNF	2668	broad.mit.edu	37	chr5	37815895	37815895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactcaccagccttctatttCtggataagtttttcaatatt	10	17	4	10	0	4	0	2	0	2	0	4	1	4	1	2	1	1	1	2	1	4	8			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:37815895C>G	ENST00000326524.2	-	3	693	c.494G>C	c.(493-495)aGa>aCa	p.R165T	GDNF_ENST00000427982.1_Missense_Mutation_p.R182T|GDNF_ENST00000381826.4_Missense_Mutation_p.R156T|GDNF_ENST00000515058.1_Missense_Mutation_p.R139T|GDNF_ENST00000344622.4_Missense_Mutation_p.R139T	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	165					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CCTTCTATTTCTGGATAAGTT	0.448													21	112					0	0	0	0	G	37815895	C	G	37815895	3	3	51	1	0	0	0	0	1	0	0	0	6373	913	32	2	144	2	GDNF	5	37815895	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	3811176	37815895	143099365	65	9729											
SSBP2	23635	broad.mit.edu	37	chr5	80809449	80809449	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagtttctctgagtacctGaaagaaccctggtggtacag	11	10	11	9	0	1	4	0	2	1	2	2	4	1	4	2	2	3	3	2	2	4	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:80809449G>A	ENST00000320672.4	-	5	580	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	SSBP2_ENST00000505980.1_Nonsense_Mutation_p.Q124*|SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000515395.1_Intron|SSBP2_ENST00000509053.1_Intron	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	124	Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CTGAGTACCTGAAAGAACCCT	0.423													14	99					0	0	0	0	A	80809449	G	A	80809449	4	1	51	1	0	0	0	0	0	1	0	0	15270	1299	45	2	767	2	SSBP2	5	80809449	Nonsense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	42993554	80809449	100105811	66	9730											
VCAN	1462	broad.mit.edu	37	chr5	82837879	82837879	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaactcaagcagctttaatCagagggcaggattccacgat	14	8	10	9	1	2	1	2	0	0	1	3	4	3	2	1	2	3	3	1	2	3	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:82837879C>T	ENST00000265077.3	+	8	9622	c.9057C>T	c.(9055-9057)atC>atT	p.I3019I	VCAN_ENST00000343200.5_Silent_p.I2032I|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3019	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAGCTTTAATCAGAGGGCAGG	0.473													30	57					0	0	0	0	T	82837879	C	T	82837879	2	4	51	1	0	0	0	0	0	0	0	1	17234	816	29	2		2	VCAN	5	82837879	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	2028430	82837879	98077381	67	9731											
MEF2C	4208	broad.mit.edu	37	chr5	88047711	88047711	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcgatgtgttacaccAggagacatactattcctctg	10	11	11	9	1	1	1	0	0	1	1	3	4	2	2	2	3	2	1	2	3	3	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:88047711A>T	ENST00000504921.2	-	5	1224	c.552T>A	c.(550-552)ccT>ccA	p.P184P	MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000539796.1_Silent_p.P136P|MEF2C_ENST00000340208.5_Silent_p.P202P|MEF2C_ENST00000424173.2_Silent_p.P182P|MEF2C_ENST00000510942.1_Silent_p.P184P|MEF2C_ENST00000506554.1_Silent_p.P184P|MEF2C_ENST00000514028.1_Silent_p.P184P|MEF2C_ENST00000437473.2_Silent_p.P184P|MEF2C_ENST00000508569.1_Silent_p.P184P|MEF2C_ENST00000514015.1_Silent_p.P184P			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	184					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GTGTTACACCAGGAGACATAC	0.483										HNSCC(66;0.2)			40	210					0	0	0	0	T	88047711	A	T	88047711	2	4	51	1	0	0	0	0	0	0	0	1	9526	175	7	5		5	MEF2C	5	88047711	Silent	SNP	A	TCGA-BB-A5HU-01A-11D-A28R-08	5209832	88047711	92867549	68	9732											
PCDHA13	56136	broad.mit.edu	37	chr5	140263604	140263604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcgagctgatgccgcggtCggtgggtgcaggccacgtgg	5	6	20	10	5	0	1	0	1	0	0	1	3	0	1	2	5	4	2	2	5	0	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:140263604C>T	ENST00000289272.2	+	1	1751	c.1751C>T	c.(1750-1752)tCg>tTg	p.S584L	PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S584L|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCGCGGTCGGTGGGTGCA	0.687													24	148					0	0	0	0	T	140263604	C	T	140263604	3	4	51	1	0	0	0	0	1	0	0	0	11594	893	31	1	1753	1	PCDHA13	5	140263604	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	52215893	140263604	40651656	69	9733											
PCDHB6	56130	broad.mit.edu	37	chr5	140532031	140532031	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccgagggtccctttccAgggcatctggtggatgtgag	5	10	16	10	1	1	1	0	1	1	0	3	3	3	2	3	4	1	1	3	4	0	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:140532031A>G	ENST00000231136.1	+	1	2193	c.2193A>G	c.(2191-2193)ccA>ccG	p.P731P	PCDHB6_ENST00000543635.1_Silent_p.P595P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		731					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCCTTTCCAGGGCATCTGG	0.612													18	211					0	0	0	0	G	140532031	A	G	140532031	2	3	51	1	0	0	0	0	0	0	0	1	11617	175	7	5		5	PCDHB6	5	140532031	Silent	SNP	A	TCGA-BB-A5HU-01A-11D-A28R-08	268427	140532031	40383229	70	9734											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720688	140720688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgctggcgcacaggctgcGgcgctggcacaagtcacgcc	6	6	15	14	4	1	0	1	0	0	0	1	0	1	0	1	4	2	6	1	4	1	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:140720688G>A	ENST00000394576.2	+	1	2150	c.2150G>A	c.(2149-2151)cGg>cAg	p.R717Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCTGCGGCGCTGGCAC	0.647													39	130					0	0	0	0	A	140720688	G	A	140720688	3	1	51	1	0	0	0	0	1	0	0	0	11625	1116	39	1	2152	1	PCDHGA2	5	140720688	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	188657	140720688	40194572	71	9735											
PCDHGB2	56103	broad.mit.edu	37	chr5	140740503	140740503	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttcaagtgacagccacCgaccgggatgaaggcataaa	13	6	12	10	2	1	2	1	2	0	0	1	4	1	3	3	2	2	2	3	2	4	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:140740503C>T	ENST00000522605.1	+	1	801	c.801C>T	c.(799-801)acC>acT	p.T267T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAGCCACCGACCGGGATG	0.493													13	34					0	0	0	0	T	140740503	C	T	140740503	2	4	51	1	0	0	0	0	0	0	0	1	11634	639	23	1		1	PCDHGB2	5	140740503	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	19815	140740503	40174757	72	9736											
PCDHGB7	56099	broad.mit.edu	37	chr5	140797757	140797757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcaattggaagctgtggtgGaaaatcctttaaatattttt	12	16	9	4	0	0	0	0	0	0	0	1	2	1	2	1	3	2	2	1	3	7	6			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:140797757G>A	ENST00000398594.2	+	1	331	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGTGGTGGAAAATCCTTT	0.418													34	97					0	0	0	0	A	140797757	G	A	140797757	3	1	51	1	0	0	0	0	1	0	0	0	11639	1175	41	2	333	2	PCDHGB7	5	140797757	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	57254	140797757	40117503	73	9737											
PCDH1	5097	broad.mit.edu	37	chr5	141244793	141244793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccacctgggcacgggcaCtcttggggttggtgcctcgg	5	8	15	13	2	1	0	0	0	1	0	2	0	1	0	3	6	2	3	3	6	1	2	rs142395032		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:141244793C>T	ENST00000287008.3	-	3	1250	c.1103G>A	c.(1102-1104)aGt>aAt	p.S368N	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Missense_Mutation_p.S346N|PCDH1_ENST00000394536.3_Missense_Mutation_p.S368N|PCDH1_ENST00000456271.1_Missense_Mutation_p.S356N	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	368	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGCACGGGCACTCTTGGGGTT	0.572													32	85					0	0	0	0	T	141244793	C	T	141244793	3	4	51	1	0	0	0	0	1	0	0	0	11577	565	20	4	2706	4	PCDH1	5	141244793	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	447036	141244793	39670467	74	9738											
SLIT3	6586	broad.mit.edu	37	chr5	168119691	168119691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacacagtggtcaatcacctCgtcgcatagctcacctggca	10	8	8	15	2	3	0	3	0	0	0	5	0	3	0	2	2	1	3	2	2	2	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:168119691C>G	ENST00000519560.1	-	29	3516	c.3097G>C	c.(3097-3099)Gag>Cag	p.E1033Q	SLIT3_ENST00000404867.3_Missense_Mutation_p.E1033Q|SLIT3_ENST00000332966.8_Missense_Mutation_p.E1040Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1033					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAATCACCTCGTCGCATAGC	0.577													10	38					0	0	0	0	G	168119691	C	G	168119691	3	3	51	1	0	0	0	0	1	0	0	0	14829	893	31	3	1506	3	SLIT3	5	168119691	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	26874898	168119691	12795569	75	9739											
ZNF454	285676	broad.mit.edu	37	chr5	178369801	178369801	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagaagaaagaatggctgtCagccacctgccaaccatggt	13	6	12	10	0	1	3	1	0	0	3	1	4	1	3	4	3	3	1	4	3	4	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:178369801C>G	ENST00000320129.3	+	2	312	c.9C>G	c.(7-9)gtC>gtG	p.V3V	ZNF454_ENST00000519564.1_Silent_p.V3V	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GAATGGCTGTCAGCCACCTGC	0.537													10	52					0	0	0	0	G	178369801	C	G	178369801	2	3	51	1	0	0	0	0	0	0	0	1	18018	813	29	2		2	ZNF454	5	178369801	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	10250110	178369801	2545459	76	9740											
ZNF184	7738	broad.mit.edu	37	chr6	27424635	27424635	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acctactggaatgcttggctCcatgatccatggctctgtcc	7	12	9	13	0	1	1	0	1	1	0	4	2	4	2	4	3	2	3	4	3	2	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:27424635C>G	ENST00000211936.6	-	5	552	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	ZNF184_ENST00000377419.1_Missense_Mutation_p.E90Q	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	90	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGCTTGGCTCCATGATCCAT	0.443													24	53					0	0	0	0	G	27424635	C	G	27424635	3	3	51	1	0	0	0	0	1	0	0	0	17846	864	30	2	1995	2	ZNF184	6	27424635	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08		27424635	143690432	77	9741											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28212905	28212905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccatgggtcactgtgaaaGagtttttttccctacatggc	9	14	9	9	0	1	2	1	1	0	1	2	2	2	2	2	2	2	1	2	2	3	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:28212905G>C	ENST00000377294.2	-	5	1870	c.1627C>G	c.(1627-1629)Ctt>Gtt	p.L543V	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.L388V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	543					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CACTGTGAAAGAGTTTTTTTC	0.443													32	90					0	0	0	0	C	28212905	G	C	28212905	3	2	51	1	0	0	0	0	1	0	0	0	17784	942	33	2	14	2	ZKSCAN4	6	28212905	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	788270	28212905	142902162	78	9742											
HSPA1L	3305	broad.mit.edu	37	chr6	31779372	31779372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtctccttcaacttagtCaataccatcgaagagatttc	12	12	6	11	1	3	1	2	0	1	1	6	3	3	1	2	0	2	1	2	0	5	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:31779372C>G	ENST00000375654.4	-	2	567	c.378G>C	c.(376-378)ttG>ttC	p.L126F	HSPA1L_ENST00000417199.3_Missense_Mutation_p.L126F	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	126					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCAACTTAGTCAATACCATCG	0.463													8	46					0	0	0	0	G	31779372	C	G	31779372	3	3	51	1	0	0	0	0	1	0	0	0	7462	825	29	2	1551	2	HSPA1L	6	31779372	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	3566467	31779372	139335695	79	9743											
PNPLA1	285848	broad.mit.edu	37	chr6	36270066	36270066	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactgtcacctctgtcacctCagcagcaggtacaaccgtct	9	9	8	15	1	5	0	3	0	2	0	5	1	5	0	3	1	4	3	3	1	2	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:36270066C>T	ENST00000394571.2	+	6	1204	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*	PNPLA1_ENST00000312917.5_Nonsense_Mutation_p.Q316*|PNPLA1_ENST00000388715.3_Nonsense_Mutation_p.Q307*	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	402	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TCTGTCACCTCAGCAGCAGGT	0.607											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	125					0	0	0	0	T	36270066	C	T	36270066	4	4	51	1	0	0	0	0	0	1	0	0	12236	827	29	2	1253	2	PNPLA1	6	36270066	Nonsense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	4490694	36270066	134845001	80	9744											
TREML2	79865	broad.mit.edu	37	chr6	41160555	41160555	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacttgccatgtgtctcttCttccaaaacccatagaccat	10	13	4	14	0	3	1	1	0	2	1	5	1	4	1	4	0	2	0	4	0	3	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:41160555C>T	ENST00000483722.1	-	4	1055	c.870G>A	c.(868-870)aaG>aaA	p.K290K		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	290					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTGTCTCTTCTTCCAAAACC	0.557													5	21					0	0	0	0	T	41160555	C	T	41160555	2	4	51	1	0	0	0	0	0	0	0	1	16568	912	32	2		2	TREML2	6	41160555	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	4890489	41160555	129954512	81	9745											
PHIP	55023	broad.mit.edu	37	chr6	79650558	79650558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattatagaaagctgtccttCgaccttgatttctagttctc	9	16	6	10	1	2	2	0	1	2	1	5	3	3	2	2	0	1	2	2	0	4	7			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:79650558C>T	ENST00000275034.4	-	40	5485	c.5318G>A	c.(5317-5319)cGa>cAa	p.R1773Q	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1773					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGCTGTCCTTCGACCTTGATT	0.413													13	85					0	0	0	0	T	79650558	C	T	79650558	3	4	51	1	0	0	0	0	1	0	0	0	11914	884	31	1	151	1	PHIP	6	79650558	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	38490003	79650558	91464509	82	9746											
PHIP	55023	broad.mit.edu	37	chr6	79656513	79656513	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttcttttatgaaaacgaaGagcagatttataatctgata	16	15	6	4	1	2	4	0	2	2	2	2	5	2	4	0	0	2	1	0	0	7	7			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:79656513G>C	ENST00000275034.4	-	37	4452	c.4285C>G	c.(4285-4287)Ctt>Gtt	p.L1429V	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1429					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGAAAACGAAGAGCAGATTTA	0.348													6	49					0	0	0	0	C	79656513	G	C	79656513	3	2	51	1	0	0	0	0	1	0	0	0	11914	942	33	2	1196	2	PHIP	6	79656513	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	5955	79656513	91458554	83	9747											
SIM1	6492	broad.mit.edu	37	chr6	100911253	100911253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagctgcgaggtgatagccGagggcaaaggcagtaattta	12	7	14	8	2	0	1	0	1	0	0	0	3	0	1	2	3	3	4	2	3	4	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:100911253G>A	ENST00000369208.3	-	2	874	c.92C>T	c.(91-93)tCg>tTg	p.S31L	SIM1_ENST00000262901.4_Missense_Mutation_p.S31L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	31	Helix-loop-helix motif.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.S31L(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGTGATAGCCGAGGGCAAAGG	0.458													16	83					0	0	0	0	A	100911253	G	A	100911253	3	1	51	1	0	0	0	0	1	0	0	0	14411	1059	37	1	2252	1	SIM1	6	100911253	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	21254740	100911253	70203814	84	9748											
GOPC	57120	broad.mit.edu	37	chr6	117890829	117890829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catccccaacgtgcagccctCcgcatctatcagcaggttgc	8	8	8	17	2	2	0	1	0	1	0	4	0	4	0	4	1	5	4	4	1	2	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:117890829C>T	ENST00000535237.1	-	7	1212	c.983G>A	c.(982-984)gGa>gAa	p.G328E	GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000368498.2_Missense_Mutation_p.G328E|GOPC_ENST00000052569.6_Missense_Mutation_p.G320E|DCBLD1_ENST00000296955.8_3'UTR					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		GTGCAGCCCTCCGCATCTATC	0.458			O	ROS1	glioblastoma								33	196					0	0	0	0	T	117890829	C	T	117890829	3	4	51	1	0	0	0	0	1	0	0	0	6621	855	30	2	417	2	GOPC	6	117890829	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	16979576	117890829	53224238	85	9749											
THBS2	7058	broad.mit.edu	37	chr6	169623544	169623544	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgtcattgtcaaaatcatCtttacaaatatcaccccgtc	12	14	4	11	1	5	0	4	0	1	0	6	0	5	0	2	0	1	1	2	0	5	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:169623544C>G	ENST00000366787.3	-	19	3049	c.2800G>C	c.(2800-2802)Gat>Cat	p.D934H	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	934					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCAAAATCATCTTTACAAATA	0.413													22	73					0	0	0	0	G	169623544	C	G	169623544	3	3	51	1	0	0	0	0	1	0	0	0	15948	913	32	2	738	2	THBS2	6	169623544	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	51732715	169623544	1491523	86	9750											
RNF216	54476	broad.mit.edu	37	chr7	5800679	5800679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcaagtgaattacctcttCattgttgtttccctcttcca	7	18	5	11	0	4	1	2	1	2	0	6	1	6	1	3	0	1	3	3	0	3	7			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:5800679C>T	ENST00000425013.2	-	2	246	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	RNF216_ENST00000389902.3_Missense_Mutation_p.E8K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	8					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATTACCTCTTCATTGTTGTTT	0.388													8	48					0	0	0	0	T	5800679	C	T	5800679	3	4	51	1	0	0	0	0	1	0	0	0	13565	835	29	2	2813	2	RNF216	7	5800679	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08		5800679	153337984	87	9751											
BBS9	27241	broad.mit.edu	37	chr7	33407426	33407426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgaatgtaatgggttttCacttcttaggaggtgctcga	9	14	13	5	1	2	1	1	1	1	0	3	3	2	2	0	4	1	3	0	4	3	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:33407426C>T	ENST00000242067.6	+	17	2262	c.1741C>T	c.(1741-1743)Cac>Tac	p.H581Y	BBS9_ENST00000396127.2_Missense_Mutation_p.H546Y|BBS9_ENST00000355070.2_Missense_Mutation_p.H576Y|BBS9_ENST00000354265.4_Missense_Mutation_p.H546Y|BBS9_ENST00000350941.3_Missense_Mutation_p.H541Y	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	581					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AATGGGTTTTCACTTCTTAGG	0.358									Bardet-Biedl syndrome				5	70					0	0	0	0	T	33407426	C	T	33407426	3	4	51	1	0	0	0	0	1	0	0	0	1346	826	29	2	1803	2	BBS9	7	33407426	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	27606747	33407426	125731237	88	9752											
ABCA13	154664	broad.mit.edu	37	chr7	48311578	48311578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatattctgaatataagttCtctgtggacaaatcatttaa	14	15	7	5	0	3	1	1	1	2	0	4	3	3	3	0	2	0	1	0	2	6	7			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:48311578C>G	ENST00000435803.1	+	17	2339	c.2315C>G	c.(2314-2316)tCt>tGt	p.S772C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	772					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						AATATAAGTTCTCTGTGGACA	0.383													3	26					0	0	0	0	G	48311578	C	G	48311578	3	3	51	1	0	0	0	0	1	0	0	0	31	913	32	2	2210	2	ABCA13	7	48311578	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	14904152	48311578	110827085	89	9753											
CACNA2D1	781	broad.mit.edu	37	chr7	81978949	81978949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaggtcttcttgcatcttatCcacccatgatttgatactgc	9	15	6	11	0	3	2	0	2	3	0	4	2	4	2	2	1	3	1	2	1	3	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:81978949C>G	ENST00000356860.3	-	2	450	c.112G>C	c.(112-114)Gat>Cat	p.D38H	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D38H|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.D38H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	38						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGCATCTTATCCACCCATGAT	0.368													11	71					0	0	0	0	G	81978949	C	G	81978949	3	3	51	1	0	0	0	0	1	0	0	0	2573	855	30	2	3315	2	CACNA2D1	7	81978949	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	33667371	81978949	77159714	90	9754											
PCLO	27445	broad.mit.edu	37	chr7	82595703	82595703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggaacaggcataggagatGctttgggtcctgatggtgca	10	10	15	6	0	0	2	0	1	0	1	1	4	1	3	1	5	3	3	1	5	3	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:82595703G>T	ENST00000423517.2	-	4	3738	c.3401C>A	c.(3400-3402)gCa>gAa	p.A1134E	PCLO_ENST00000333891.8_Missense_Mutation_p.A1134E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1073					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A1134V(2)|p.A1073V(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CATAGGAGATGCTTTGGGTCC	0.423													13	76					0.00010058	0.000104524	1	0	T	82595703	G	T	82595703	3	4	51	1	0	0	0	0	1	0	0	0	11654	1319	46	4	12132	4	PCLO	7	82595703	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	616754	82595703	76542960	91	9755											
NRCAM	4897	broad.mit.edu	37	chr7	107875086	107875086	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattctcccgagggtcaatAatgtaatcttttggagactg	11	14	9	7	1	3	1	1	0	2	1	4	3	3	1	1	2	0	1	1	2	4	6			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:107875086A>G	ENST00000379028.3	-	6	641	c.171T>C	c.(169-171)atT>atC	p.I57I	NRCAM_ENST00000413765.2_Silent_p.I57I|NRCAM_ENST00000379022.4_Silent_p.I57I|NRCAM_ENST00000425651.2_Silent_p.I57I|NRCAM_ENST00000351718.4_Silent_p.I51I|NRCAM_ENST00000379024.4_Silent_p.I57I			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	57	Ig-like 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GAGGGTCAATAATGTAATCTT	0.353													10	66					0	0	0	0	G	107875086	A	G	107875086	2	3	51	1	0	0	0	0	0	0	0	1	10715	358	13	5		5	NRCAM	7	107875086	Silent	SNP	A	TCGA-BB-A5HU-01A-11D-A28R-08	25279383	107875086	51263577	92	9756											
RNF148	378925	broad.mit.edu	37	chr7	122342732	122342732	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaggaaagctaagtagtaGaaagatactaagcctcaaaa	19	7	9	6	0	2	2	2	0	0	2	2	3	2	3	1	1	3	3	1	1	9	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:122342732G>A	ENST00000434824.1	-	1	289	c.73C>T	c.(73-75)Cta>Tta	p.L25L	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|RNF148_ENST00000447240.1_Silent_p.L25L|CADPS2_ENST00000334010.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	25						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTAAGTAGTAGAAAGATACTA	0.403													5	22					0	0	0	0	A	122342732	G	A	122342732	2	1	51	1	0	0	0	0	0	0	0	1	13534	933	33	2		2	RNF148	7	122342732	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	14467646	122342732	36795931	93	9757											
SLC13A1	6561	broad.mit.edu	37	chr7	122757637	122757637	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagaaggtatcagaatataaAgagggttcacatgaatggct	16	10	11	4	0	2	4	2	1	0	3	2	4	2	4	0	3	0	3	0	3	8	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:122757637A>T	ENST00000194130.2	-	14	1577	c.1538T>A	c.(1537-1539)cTt>cAt	p.L513H	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	513						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CAGAATATAAAGAGGGTTCAC	0.348													4	47					0	0	0	0	T	122757637	A	T	122757637	3	4	51	1	0	0	0	0	1	0	0	0	14479	72	3	5	257	5	SLC13A1	7	122757637	Missense_Mutation	SNP	A	TCGA-BB-A5HU-01A-11D-A28R-08	414905	122757637	36381026	94	9758											
ATP6V1F	9296	broad.mit.edu	37	chr7	128503037	128503037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctgctgggcggcatagggGagcttaacaagaaccgccat	10	7	13	11	2	0	1	0	0	0	1	1	2	1	2	3	4	4	3	3	4	4	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:128503037G>A	ENST00000492758.1	+	1	80	c.79G>A	c.(79-81)Gag>Aag	p.E27K	ATP6V1F_ENST00000249289.4_Missense_Mutation_p.E27K	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	27					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			lung(1)|ovary(1)|prostate(1)	3						CGGCATAGGGGAGCTTAACAA	0.587											OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	76					0	0	0	0	A	128503037	G	A	128503037	3	1	51	1	0	0	0	0	1	0	0	0	1189	1175	41	2	81	2	ATP6V1F	7	128503037	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	5745400	128503037	30635626	95	9759											
OR2A2	442361	broad.mit.edu	37	chr7	143807504	143807504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaatgctgtccctgtttCacagtgtctttaatccaatg	11	14	7	9	0	2	1	1	0	1	1	4	1	4	1	2	0	1	2	2	0	4	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:143807504C>T	ENST00000408979.2	+	1	898	c.829C>T	c.(829-831)Cac>Tac	p.H277Y		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GTCCCTGTTTCACAGTGTCTT	0.507													21	204					0	0	0	0	T	143807504	C	T	143807504	3	4	51	1	0	0	0	0	1	0	0	0	11048	826	29	2	831	2	OR2A2	7	143807504	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	15304467	143807504	15331159	96	9760											
AGAP3	116988	broad.mit.edu	37	chr7	150817139	150817139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccctccacccccagcatCagccagcgggagctgcgcat	7	5	10	19	2	1	0	1	0	0	0	3	1	3	1	6	1	5	3	6	1	0	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:150817139C>T	ENST00000397238.2	+	8	1035	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000463381.1_Silent_p.I117I|AGAP3_ENST00000473312.1_Silent_p.I345I|AGAP3_ENST00000335367.3_Silent_p.I525I	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	309	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCCCCAGCATCAGCCAGCGGG	0.652													16	74					0	0	0	0	T	150817139	C	T	150817139	2	4	51	1	0	0	0	0	0	0	0	1	369	816	29	2		2	AGAP3	7	150817139	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	7009635	150817139	8321524	97	9761											
GALNTL5	168391	broad.mit.edu	37	chr7	151716859	151716859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggataatgtcttcccagaGttggaggcatctgtgaacag	10	12	12	7	0	2	2	0	1	2	1	3	4	3	4	1	3	1	2	1	3	2	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:151716859G>T	ENST00000392800.2	+	9	1559	c.1305G>T	c.(1303-1305)gaG>gaT	p.E435D	GALNTL5_ENST00000431418.2_Missense_Mutation_p.E435D	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	435						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TCTTCCCAGAGTTGGAGGCAT	0.403													20	37					4.96729e-08	5.24435e-08	1	0	T	151716859	G	T	151716859	3	4	51	1	0	0	0	0	1	0	0	0	6273	1020	36	4	1335	4	GALNTL5	7	151716859	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	899720	151716859	7421804	98	9762											
PTK2B	2185	broad.mit.edu	37	chr8	27291621	27291621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcctagatggtgagaagCggaacagcctgccccagatc	10	8	11	12	1	1	3	0	1	1	3	3	5	2	4	4	2	4	0	4	2	3	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:27291621C>T	ENST00000397501.1	+	17	1925	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	PTK2B_ENST00000346049.5_Missense_Mutation_p.R373W|PTK2B_ENST00000338238.4_Missense_Mutation_p.R373W|PTK2B_ENST00000544172.1_Missense_Mutation_p.R373W|PTK2B_ENST00000517339.1_Missense_Mutation_p.R373W|PTK2B_ENST00000420218.2_Missense_Mutation_p.R373W|PTK2B_ENST00000397497.4_Missense_Mutation_p.R119W	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	373					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGGTGAGAAGCGGAACAGCCT	0.562													16	108					0	0	0	0	T	27291621	C	T	27291621	3	4	51	1	0	0	0	0	1	0	0	0	12843	759	27	1	1159	1	PTK2B	8	27291621	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08		27291621	119072401	99	9763											
PRKDC	5591	broad.mit.edu	37	chr8	48855894	48855894	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaaggcaggtgctaaactGagatgcatgcagggcaaata	15	6	13	7	0	0	2	0	1	0	2	0	3	0	2	0	3	4	5	0	3	5	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:48855894G>C	ENST00000314191.2	-	10	897	c.841C>G	c.(841-843)Cag>Gag	p.Q281E	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Q281E	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	281					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTGCTAAACTGAGATGCATGC	0.413								Non-homologous end-joining					3	28					0	0	0	0	C	48855894	G	C	48855894	3	2	51	1	0	0	0	0	1	0	0	0	12601	1299	45	2	11852	2	PRKDC	8	48855894	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	21564273	48855894	97508128	100	9764											
EYA1	2138	broad.mit.edu	37	chr8	72129059	72129059	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcactggttgctgcagcagGaaagccatctgttccaaagt	11	9	11	10	0	1	0	0	0	1	0	2	1	2	1	2	2	5	6	2	2	2	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:72129059G>C	ENST00000340726.3	-	14	1867	c.1228C>G	c.(1228-1230)Cct>Gct	p.P410A	EYA1_ENST00000303824.7_Missense_Mutation_p.P404A|EYA1_ENST00000388741.2_Missense_Mutation_p.P376A|EYA1_ENST00000388740.3_Missense_Mutation_p.P377A|EYA1_ENST00000419131.1_Missense_Mutation_p.P375A|EYA1_ENST00000388743.2_Missense_Mutation_p.P409A|EYA1_ENST00000388742.4_Missense_Mutation_p.P410A	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	410					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCTGCAGCAGGAAAGCCATCT	0.433													5	113					0	0	0	0	C	72129059	G	C	72129059	3	2	51	1	0	0	0	0	1	0	0	0	5366	1174	41	2	570	2	EYA1	8	72129059	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	23273165	72129059	74234963	101	9765											
ZFHX4	79776	broad.mit.edu	37	chr8	77764690	77764690	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagtaacatagtgagtgcaGactgccaaatcatgaaggat	17	8	10	6	0	1	3	1	2	0	1	1	4	1	4	1	1	3	2	1	1	5	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:77764690G>C	ENST00000521891.2	+	10	5981	c.5533G>C	c.(5533-5535)Gac>Cac	p.D1845H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1800H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1800H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1819H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1800						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTGAGTGCAGACTGCCAAAT	0.438										HNSCC(33;0.089)			9	7					0	0	0	0	C	77764690	G	C	77764690	3	2	51	1	0	0	0	0	1	0	0	0	17730	942	33	2	5567	2	ZFHX4	8	77764690	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	5635631	77764690	68599332	102	9766											
ZFHX4	79776	broad.mit.edu	37	chr8	77764944	77764944	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtataacgaaaacaggcaGaaggtacagaagaagggcaa	20	3	12	6	1	0	3	0	0	0	3	0	4	0	3	0	3	3	4	0	3	9	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:77764944G>A	ENST00000521891.2	+	10	6235	c.5787G>A	c.(5785-5787)caG>caA	p.Q1929Q	ZFHX4_ENST00000455469.2_Silent_p.Q1884Q|ZFHX4_ENST00000050961.6_Silent_p.Q1884Q|ZFHX4_ENST00000518282.1_Silent_p.Q1903Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1884						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAACAGGCAGAAGGTACAGA	0.413										HNSCC(33;0.089)			29	41					0	0	0	0	A	77764944	G	A	77764944	2	1	51	1	0	0	0	0	0	0	0	1	17730	933	33	2		2	ZFHX4	8	77764944	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	254	77764944	68599078	103	9767											
MMP16	4325	broad.mit.edu	37	chr8	89339455	89339455	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tagtgaactgtgcttcaatgGatggacgagctccccttcgt	8	12	11	10	2	1	1	1	1	0	0	3	4	2	3	2	2	3	2	2	2	3	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:89339455G>C	ENST00000286614.6	-	0	262				RP11-586K2.1_ENST00000523254.1_RNA	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)						collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGCTTCAATGGATGGACGAGC	0.502													53	78					0	0	0	0	C	89339455	G	C	89339455	1	2	51	1	0	0	0	0	0	0	0	0	9724	1189	41	2		2	MMP16	8	89339455	Translation_Start_Site	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	11574511	89339455	57024567	104	9768											
RGS22	26166	broad.mit.edu	37	chr8	101051168	101051168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttactacgtacttgcgcttgCttgcatactttaaaaggctg	9	15	8	9	2	0	0	0	0	0	0	0	0	0	0	0	1	7	5	0	1	6	9			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:101051168C>A	ENST00000360863.6	-	14	2351	c.2157G>T	c.(2155-2157)aaG>aaT	p.K719N	RGS22_ENST00000523287.1_Missense_Mutation_p.K538N|RGS22_ENST00000523437.1_Missense_Mutation_p.K707N	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	719					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTGCGCTTGCTTGCATACTT	0.393													3	38					0.004672	0.00479876	1	0	A	101051168	C	A	101051168	3	1	51	1	0	0	0	0	1	0	0	0	13388	796	28	4	1693	4	RGS22	8	101051168	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	11711713	101051168	45312854	105	9769											
CSMD3	114788	broad.mit.edu	37	chr8	113694784	113694784	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacaaataactgaaattGaacttcctaattgaaagttg	16	13	5	7	0	1	3	1	3	0	0	2	3	2	3	1	0	2	1	1	0	6	7			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:113694784G>T	ENST00000297405.5	-	16	2808	c.2564C>A	c.(2563-2565)tCa>tAa	p.S855*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S855*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S751*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S815*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	855	Sushi 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTGAAATTGAACTTCCTAA	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	106					3.41278e-10	3.61755e-10	1	0	T	113694784	G	T	113694784	4	4	51	1	0	0	0	0	0	1	0	0	3978	1294	45	2	8783	2	CSMD3	8	113694784	Nonsense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	12643616	113694784	32669238	106	9770											
TRPS1	7227	broad.mit.edu	37	chr8	116631647	116631647	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctctggagacagaggTgccgggtctgggttgtcatt	7	11	16	7	1	3	3	1	1	2	2	3	4	3	3	1	4	2	2	1	4	1	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:116631647T>G	ENST00000395715.3	-	3	1255	c.678A>C	c.(676-678)gcA>gcC	p.A226A	TRPS1_ENST00000520276.1_Silent_p.A217A|TRPS1_ENST00000519674.1_Silent_p.A213A|TRPS1_ENST00000220888.5_Silent_p.A213A|TRPS1_ENST00000519076.1_Silent_p.A167A	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	213					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGACAGAGGTGCCGGGTCTG	0.458									Langer-Giedion syndrome				23	201					0	0	0	0	G	116631647	T	G	116631647	2	3	51	1	0	0	0	0	0	0	0	1	16688	1683	59	5		5	TRPS1	8	116631647	Silent	SNP	T	TCGA-BB-A5HU-01A-11D-A28R-08	2936863	116631647	29732375	107	9771											
MTBP	27085	broad.mit.edu	37	chr8	121530188	121530188	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catccagaaagccacaaacaGaacggtccttaccagtgact	15	6	7	13	1	0	3	0	1	0	2	2	3	2	3	4	1	4	0	4	1	4	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:121530188G>C	ENST00000305949.1	+	19	2389	c.2344G>C	c.(2344-2346)Gaa>Caa	p.E782Q		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	782	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GCCACAAACAGAACGGTCCTT	0.398													4	80					0	0	0	0	C	121530188	G	C	121530188	3	2	51	1	0	0	0	0	1	0	0	0	9982	943	33	2	2418	2	MTBP	8	121530188	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	4898541	121530188	24833834	108	9772											
ADCY8	114	broad.mit.edu	37	chr8	131922087	131922087	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccaatcctcatgtcaacatCgtgttttgtccttgaccgca	8	14	6	13	2	2	1	2	1	0	0	6	1	5	1	4	0	1	2	4	0	2	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:131922087C>G	ENST00000286355.5	-	6	3599	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H	ADCY8_ENST00000377928.3_Missense_Mutation_p.D503H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	503					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGTCAACATCGTGTTTTGTC	0.478										HNSCC(32;0.087)			22	118					0	0	0	0	G	131922087	C	G	131922087	3	3	51	1	0	0	0	0	1	0	0	0	300	884	31	3	2300	3	ADCY8	8	131922087	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	10391899	131922087	14441935	109	9773											
FAM135B	51059	broad.mit.edu	37	chr8	139207509	139207509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctccaattacctgtagctCtgagcacagctgagaaagtg	11	11	9	10	0	2	2	0	2	2	1	3	3	2	2	2	0	4	4	2	0	4	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:139207509C>T	ENST00000395297.1	-	9	1035	c.865G>A	c.(865-867)Gag>Aag	p.E289K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	289										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCTGTAGCTCTGAGCACAGC	0.433										HNSCC(54;0.14)			8	76					0	0	0	0	T	139207509	C	T	139207509	3	4	51	1	0	0	0	0	1	0	0	0	5490	922	32	2	3403	2	FAM135B	8	139207509	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	7285422	139207509	7156513	110	9774											
SPTLC1	10558	broad.mit.edu	37	chr9	94794750	94794750	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtcccgggactctgcctaGagcaggacggcctgggctac	6	7	15	13	2	1	1	0	0	1	1	2	3	2	3	3	5	3	2	3	5	2	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr9:94794750G>C	ENST00000262554.2	-	15	1424	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	473						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACTCTGCCTAGAGCAGGACGG	0.582													10	66					0	0	0	0	C	94794750	G	C	94794750	2	2	51	1	0	0	0	0	0	0	0	1	15213	929	33	2		2	SPTLC1	9	94794750	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08		94794750	46418681	111	9775											
PKN3	29941	broad.mit.edu	37	chr9	131469624	131469624	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagtgacccgagagttgcggGctgcggtgcctggatacccc	6	7	16	12	3	0	2	0	1	0	1	0	5	0	3	4	3	4	2	4	3	1	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr9:131469624G>C	ENST00000291906.4	+	6	1168	c.775G>C	c.(775-777)Gct>Cct	p.A259P		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	259					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AGAGTTGCGGGCTGCGGTGCC	0.612													14	23					0	0	0	0	C	131469624	G	C	131469624	3	2	51	1	0	0	0	0	1	0	0	0	12053	1203	42	4	797	4	PKN3	9	131469624	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	36674874	131469624	9743807	112	9776											
EXD3	54932	broad.mit.edu	37	chr9	140201526	140201526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccgtcccagaagacctttCcacagcccgtgcagcagtag	10	6	10	15	2	0	2	0	0	0	2	2	2	2	2	5	0	4	3	5	0	2	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr9:140201526C>A	ENST00000340951.4	-	22	2702	c.2507G>T	c.(2506-2508)gGa>gTa	p.G836V	EXD3_ENST00000342129.4_Missense_Mutation_p.G474V	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	836					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GAAGACCTTTCCACAGCCCGT	0.697													10	13					0.000673444	0.000694407	1	0	A	140201526	C	A	140201526	3	1	51	1	0	0	0	0	1	0	0	0	5336	855	30	2	127	2	EXD3	9	140201526	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	8731902	140201526	1011905	113	9777											
FBXO18	84893	broad.mit.edu	37	chr10	5948426	5948426	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgatcccattcctgactCatactatgggcttcttggga	7	14	8	12	0	2	2	1	2	1	0	5	3	5	3	3	2	1	1	3	2	2	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr10:5948426C>G	ENST00000379999.5	+	4	841	c.737C>G	c.(736-738)tCa>tGa	p.S246*	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Nonsense_Mutation_p.S195*	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	195					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ATTCCTGACTCATACTATGGG	0.587													12	34					0	0	0	0	G	5948426	C	G	5948426	4	3	51	1	0	0	0	0	0	1	0	0	5776	838	29	2	756	2	FBXO18	10	5948426	Nonsense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08		5948426	129586321	114	9778											
ITGA8	8516	broad.mit.edu	37	chr10	15689001	15689001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttctctggggttgctctCaaattcacgttccataaaga	10	14	7	10	1	3	1	2	0	2	1	6	1	4	1	1	2	2	3	1	2	4	6			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr10:15689001C>T	ENST00000378076.3	-	12	1404	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	351					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGGTTGCTCTCAAATTCACGT	0.507													28	45					0	0	0	0	T	15689001	C	T	15689001	3	4	51	1	0	0	0	0	1	0	0	0	7935	835	29	2	2216	2	ITGA8	10	15689001	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	9740575	15689001	119845746	115	9779											
ALOX5	240	broad.mit.edu	37	chr10	45941106	45941106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catattactacttgtccccaGaccggattccgaacagtgtg	10	11	8	12	2	0	1	0	0	0	1	2	3	2	2	4	1	3	0	4	1	4	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr10:45941106G>C	ENST00000374391.2	+	14	2049	c.1996G>C	c.(1996-1998)Gac>Cac	p.D666H	ALOX5_ENST00000542434.1_Missense_Mutation_p.D609H|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	666	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTTGTCCCCAGACCGGATTCC	0.587													14	123					0	0	0	0	C	45941106	G	C	45941106	3	2	51	1	0	0	0	0	1	0	0	0	540	942	33	2	2050	2	ALOX5	10	45941106	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	30252105	45941106	89593641	116	9780											
ZMIZ1	57178	broad.mit.edu	37	chr10	81072505	81072505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctctatttgagaacaactGagggccacccggtcggggcc	8	8	13	12	2	1	2	0	2	1	1	3	3	1	2	3	4	2	0	3	4	3	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr10:81072505G>A	ENST00000334512.5	+	25	3775	c.3203G>A	c.(3202-3204)tGa>tAa	p.*1068*	ZMIZ1_ENST00000446377.2_Silent_p.*134*	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	0					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GAGAACAACTGAGGGCCACCC	0.597													48	109					0	0	0	0	A	81072505	G	A	81072505	2	1	51	1	0	0	0	0	0	0	0	1	17791	1285	45	2		2	ZMIZ1	10	81072505	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	35131399	81072505	54462242	117	9781											
SLK	9748	broad.mit.edu	37	chr10	105781404	105781404	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgccacttgttggttgaGcatgagactcagaaactgaa	14	10	10	7	0	1	4	1	3	0	2	1	5	1	4	1	1	3	3	1	1	3	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr10:105781404G>A	ENST00000369755.3	+	18	4019	c.3474G>A	c.(3472-3474)gaG>gaA	p.E1158E	SLK_ENST00000335753.4_Silent_p.E1127E	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1158					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGTTGGTTGAGCATGAGACTC	0.323													4	53					0	0	0	0	A	105781404	G	A	105781404	2	1	51	1	0	0	0	0	0	0	0	1	14836	962	34	4		4	SLK	10	105781404	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	24708899	105781404	29753343	118	9782											
ATRNL1	26033	broad.mit.edu	37	chr10	116919891	116919891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttctgtaggtcgggcttCacataaagcagttttacacg	9	13	9	10	2	2	0	1	0	1	0	4	0	3	0	1	2	2	4	1	2	4	6			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr10:116919891C>T	ENST00000355044.3	+	6	1046	c.920C>T	c.(919-921)tCa>tTa	p.S307L	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.S307L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	307						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGTCGGGCTTCACATAAAGCA	0.368													13	106					0	0	0	0	T	116919891	C	T	116919891	3	4	51	1	0	0	0	0	1	0	0	0	1211	838	29	2	942	2	ATRNL1	10	116919891	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	11138487	116919891	18614856	119	9783											
TACC2	10579	broad.mit.edu	37	chr10	123970124	123970124	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcctcagacgctaagaatCaggagggcaaagtgaacaca	15	5	12	9	1	2	3	2	1	0	2	2	4	2	4	1	2	2	2	1	2	4	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr10:123970124C>T	ENST00000369005.1	+	9	6524	c.6184C>T	c.(6184-6186)Cag>Tag	p.Q2062*	TACC2_ENST00000515273.1_Nonsense_Mutation_p.Q2066*|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000334433.3_Nonsense_Mutation_p.Q2062*|TACC2_ENST00000360561.3_Nonsense_Mutation_p.Q140*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.Q140*|TACC2_ENST00000453444.2_Nonsense_Mutation_p.Q2066*|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515603.1_Nonsense_Mutation_p.Q2017*|TACC2_ENST00000358010.1_Nonsense_Mutation_p.Q208*|TACC2_ENST00000513429.1_Nonsense_Mutation_p.Q208*|TACC2_ENST00000369004.3_Nonsense_Mutation_p.Q140*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.Q140*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2062						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGCTAAGAATCAGGAGGGCAA	0.532													25	68					0	0	0	0	T	123970124	C	T	123970124	4	4	51	1	0	0	0	0	0	1	0	0	15593	827	29	2	6286	2	TACC2	10	123970124	Nonsense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	7050233	123970124	11564623	120	9784											
SYT8	90019	broad.mit.edu	37	chr11	1857283	1857283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtgacgggggaagggcaGaccccatgccctgggtggtg	7	5	20	9	1	0	2	0	1	0	1	0	3	0	3	3	6	1	1	3	6	1	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:1857283G>A	ENST00000535046.1	+	4	882	c.882G>A	c.(880-882)caG>caA	p.Q294Q	SYT8_ENST00000436964.2_Silent_p.Q142Q|SYT8_ENST00000341958.3_Intron|SYT8_ENST00000381968.3_Intron|SYT8_ENST00000483280.1_3'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	0	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGAAGGGCAGACCCCATGCC	0.687													3	18					0	0	0	0	A	1857283	G	A	1857283	2	1	51	1	0	0	0	0	0	0	0	1	15571	957	33	2		2	SYT8	11	1857283	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08		1857283	133149233	121	9785											
LRRC4C	57689	broad.mit.edu	37	chr11	40137376	40137376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctttcaatggggttgtttCgcaaccagagctccttcagt	7	14	10	10	1	2	1	2	0	0	1	4	1	3	1	2	2	3	5	2	2	2	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:40137376C>T	ENST00000278198.2	-	2	2430	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	LRRC4C_ENST00000530763.1_Missense_Mutation_p.R156Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R156Q|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R156Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	156					regulation of axonogenesis	integral to membrane	protein binding	p.R156Q(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGGTTGTTTCGCAACCAGAG	0.428													8	70					0	0	0	0	T	40137376	C	T	40137376	3	4	51	1	0	0	0	0	1	0	0	0	9072	884	31	1	1459	1	LRRC4C	11	40137376	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	38280093	40137376	94869140	122	9786											
MADD	8567	broad.mit.edu	37	chr11	47311465	47311465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgcacagcgtgctggacgGccagggagttggctggctca	6	7	18	10	2	1	0	1	0	0	0	1	2	1	2	1	6	3	5	1	6	0	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:47311465G>A	ENST00000342922.4	+	17	3161	c.2804G>A	c.(2803-2805)gGc>gAc	p.G935D	MADD_ENST00000349238.3_Missense_Mutation_p.G955D|MADD_ENST00000395344.3_Missense_Mutation_p.G892D|MADD_ENST00000311027.5_Missense_Mutation_p.G955D|MADD_ENST00000407859.3_Missense_Mutation_p.G912D|MADD_ENST00000406482.1_Missense_Mutation_p.G892D|MADD_ENST00000402799.1_Missense_Mutation_p.G892D|MADD_ENST00000402192.2_Missense_Mutation_p.G935D|MADD_ENST00000395336.3_Missense_Mutation_p.G955D	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	955					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTGCTGGACGGCCAGGGAGTT	0.597													8	39					0	0	0	0	A	47311465	G	A	47311465	3	1	51	1	0	0	0	0	1	0	0	0	9217	1203	42	4	2930	4	MADD	11	47311465	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	7174089	47311465	87695051	123	9787											
OR1S1	219959	broad.mit.edu	37	chr11	57982336	57982336	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgagcatcaaaacctcctCtttgtgcttttcttgggtat	8	16	8	9	0	3	1	1	1	2	0	4	2	4	1	2	1	3	3	2	1	3	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:57982336C>G	ENST00000309433.6	+	1	120	c.120C>G	c.(118-120)ctC>ctG	p.L40L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AAAACCTCCTCTTTGTGCTTT	0.448													43	110					0	0	0	0	G	57982336	C	G	57982336	2	3	51	1	0	0	0	0	0	0	0	1	11043	900	32	2		2	OR1S1	11	57982336	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	10670871	57982336	77024180	124	9788											
SIPA1	6494	broad.mit.edu	37	chr11	65417892	65417892	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccagagcctgggaacctctCagagaaggtctctcacttgg	9	8	12	12	0	3	2	2	0	2	2	5	4	3	3	3	3	2	0	3	3	2	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:65417892C>G	ENST00000394224.3	+	15	3220	c.2924C>G	c.(2923-2925)tCa>tGa	p.S975*	SIPA1_ENST00000527525.1_Nonsense_Mutation_p.S873*|SIPA1_ENST00000394227.3_Nonsense_Mutation_p.S873*|SIPA1_ENST00000534313.1_Nonsense_Mutation_p.S975*	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	975					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GGGAACCTCTCAGAGAAGGTC	0.622													10	94					0	0	0	0	G	65417892	C	G	65417892	4	3	51	1	0	0	0	0	0	1	0	0	14416	838	29	2	2978	2	SIPA1	11	65417892	Nonsense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	7435556	65417892	69588624	125	9789											
PPFIA1	8500	broad.mit.edu	37	chr11	70200478	70200478	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaacctccccgccttcctcCccgagagcccttcggttaga	7	8	8	18	3	0	2	0	0	0	2	4	4	3	2	8	1	2	1	8	1	2	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:70200478C>T	ENST00000253925.7	+	17	2450	c.2235C>T	c.(2233-2235)tcC>tcT	p.S745S	PPFIA1_ENST00000389547.3_Silent_p.S745S|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	745					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGCCTTCCTCCCCGAGAGCCC	0.562													9	416					0	0	0	0	T	70200478	C	T	70200478	2	4	51	1	0	0	0	0	0	0	0	1	12380	610	22	4		4	PPFIA1	11	70200478	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	4782586	70200478	64806038	126	9790											
SHANK2	22941	broad.mit.edu	37	chr11	70331681	70331681	+	Missense_Mutation	SNP	C	C	T																															cggggggataacaaagctatCtacatcttcttccacgagcg																										TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:70331681C>T	ENST00000338508.4	-	32	4719	c.4720G>A	c.(4720-4722)Gat>Aat	p.D1574N	SHANK2_ENST00000409161.1_Missense_Mutation_p.D977N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D978N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1194N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1194					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.D978H(1)|p.D1574H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACAAAGCTATCTACATCTTCT	0.562													129	1061					0	0	0	0	T	70331681	C	T	70331681	3	4	51	1	0	0	0	0	1	0	0	0	14353	913	32	2	840	2	SHANK2	11	70331681	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	131203	70331681	64674835	127	9791	91	3									
SHANK2	22941	broad.mit.edu	37	chr11	70331687	70331687	+	Missense_Mutation	SNP	C	C	T																															gataacaaagctatctacatCttcttccacgagcgcgtctt																										TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:70331687C>T	ENST00000338508.4	-	32	4713	c.4714G>A	c.(4714-4716)Gat>Aat	p.D1572N	SHANK2_ENST00000409161.1_Missense_Mutation_p.D975N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D976N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1192N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1192					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTATCTACATCTTCTTCCACG	0.547													133	1114					0	0	0	0	T	70331687	C	T	70331687	3	4	51	1	0	0	0	0	1	0	0	0	14353	913	32	2	846	2	SHANK2	11	70331687	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	6	70331687	64674829	128	9792	91	3									
SHANK2	22941	broad.mit.edu	37	chr11	70331690	70331690	+	Missense_Mutation	SNP	C	C	T																															aacaaagctatctacatcttCttccacgagcgcgtcttgat																										TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:70331690C>T	ENST00000338508.4	-	32	4710	c.4711G>A	c.(4711-4713)Gaa>Aaa	p.E1571K	SHANK2_ENST00000409161.1_Missense_Mutation_p.E974K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E975K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E1191K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1191					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCTACATCTTCTTCCACGAGC	0.552													135	1146					0	0	0	0	T	70331690	C	T	70331690	3	4	51	1	0	0	0	0	1	0	0	0	14353	922	32	2	849	2	SHANK2	11	70331690	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	3	70331690	64674826	129	9793	91	3									
GNB3	2784	broad.mit.edu	37	chr12	6952678	6952678	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaggtcagccgggagctttCtgctcacacaggtgagggag	9	7	15	10	1	3	1	2	1	1	0	3	3	3	3	1	4	3	2	1	4	1	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:6952678C>G	ENST00000229264.3	+	7	824	c.419C>G	c.(418-420)tCt>tGt	p.S140C	GNB3_ENST00000435982.2_Missense_Mutation_p.S140C	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	140					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CGGGAGCTTTCTGCTCACACA	0.597													22	94					0	0	0	0	G	6952678	C	G	6952678	3	3	51	1	0	0	0	0	1	0	0	0	6570	913	32	2	437	2	GNB3	12	6952678	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08		6952678	126899217	130	9794											
PRB1	5542	broad.mit.edu	37	chr12	11506284	11506284	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggtgggggaccttgAggtttgttgcctccttgtgg	3	13	17	8	0	0	1	0	1	0	0	1	3	1	3	4	6	1	2	4	6	0	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:11506284A>C	ENST00000500254.2	-	4	391	c.354T>G	c.(352-354)ccT>ccG	p.P118P	PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Silent_p.P118P	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	312	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGACCTTGAGGTTTGTTGC	0.617													30	247					0	0	0	0	C	11506284	A	C	11506284	2	2	51	1	0	0	0	0	0	0	0	1	12522	291	11	5		5	PRB1	12	11506284	Silent	SNP	A	TCGA-BB-A5HU-01A-11D-A28R-08	4553606	11506284	122345611	131	9795											
LRP6	4040	broad.mit.edu	37	chr12	12334167	12334167	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagcagtgaccacaaactGactgccagatccatctataa	14	9	7	11	0	1	4	0	3	1	1	2	4	2	4	3	0	3	1	3	0	3	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:12334167G>A	ENST00000261349.4	-	6	1259	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*	LRP6_ENST00000543091.1_Nonsense_Mutation_p.Q395*	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	395	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ACCACAAACTGACTGCCAGAT	0.468													13	106					0	0	0	0	A	12334167	G	A	12334167	4	1	51	1	0	0	0	0	0	1	0	0	9026	1299	45	2	3730	2	LRP6	12	12334167	Nonsense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	827883	12334167	121517728	132	9796											
PIK3C2G	5288	broad.mit.edu	37	chr12	18658283	18658283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtggtaacattcatcctgGgagtatgtgaccgtcacaat	10	12	11	8	1	2	1	2	1	0	0	3	2	3	2	2	2	1	2	2	2	3	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:18658283G>C	ENST00000433979.1	+	23	3204	c.3088G>C	c.(3088-3090)Gga>Cga	p.G1030R	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G1030R|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G1071R	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1030	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTCATCCTGGGAGTATGTGA	0.383													5	21					0	0	0	0	C	18658283	G	C	18658283	3	2	51	1	0	0	0	0	1	0	0	0	11983	1233	43	4	3174	4	PIK3C2G	12	18658283	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	6324116	18658283	115193612	133	9797											
PRPF40B	25766	broad.mit.edu	37	chr12	50037079	50037079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggaggaggcggaacccctCagagtcaggctctgagccct	8	5	15	13	2	3	2	2	1	1	1	3	5	3	5	3	5	2	1	3	5	1	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:50037079C>T	ENST00000261897.1	+	22	2728	c.2177C>T	c.(2176-2178)tCa>tTa	p.S726L	PRPF40B_ENST00000548825.2_Missense_Mutation_p.S760L|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000380281.1_Missense_Mutation_p.S739L			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	739					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CGGAACCCCTCAGAGTCAGGC	0.607													24	105					0	0	0	0	T	50037079	C	T	50037079	3	4	51	1	0	0	0	0	1	0	0	0	12652	838	29	2	2302	2	PRPF40B	12	50037079	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	31378796	50037079	83814816	134	9798											
KRT83	3889	broad.mit.edu	37	chr12	52711548	52711548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgacttgcggaggtaggCgcagtccacatcctgggtgg	6	9	16	10	2	1	1	0	1	1	0	3	2	3	2	2	5	1	2	2	5	1	2	rs149581248		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:52711548C>T	ENST00000293670.3	-	4	729	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	223	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGAGGTAGGCGCAGTCCACA	0.627													30	122					0	0	0	0	T	52711548	C	T	52711548	3	4	51	1	0	0	0	0	1	0	0	0	8549	768	27	1	838	1	KRT83	12	52711548	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	2674469	52711548	81140347	135	9799											
ATF7	11016	broad.mit.edu	37	chr12	53911088	53911088	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgttgctgagctgtgctGaatcacaggggctggagaac	8	9	16	8	0	1	3	1	2	0	1	1	4	1	3	0	4	4	6	0	4	2	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:53911088G>A	ENST00000420353.2	-	12	1434	c.1285C>T	c.(1285-1287)Cag>Tag	p.Q429*	ATF7_ENST00000456903.4_Nonsense_Mutation_p.Q429*|ATF7_ENST00000328463.7_Nonsense_Mutation_p.Q440*|RP11-793H13.3_ENST00000548347.1_RNA|RP11-793H13.10_ENST00000591834.1_Intron|ATF7_ENST00000415113.1_Nonsense_Mutation_p.Q408*|ATF7_ENST00000548446.2_Nonsense_Mutation_p.Q440*|ATF7_ENST00000546661.1_5'UTR	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	440	Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						GAGCTGTGCTGAATCACAGGG	0.562													9	34					0	0	0	0	A	53911088	G	A	53911088	4	1	51	1	0	0	0	0	0	1	0	0	1090	1299	45	2	170	2	ATF7	12	53911088	Nonsense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	1199540	53911088	79940807	136	9800											
BBS10	79738	broad.mit.edu	37	chr12	76740853	76740853	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatatgagcaattttacattCtgactatgtagatgtttcat	12	17	7	5	0	2	3	1	2	1	1	2	4	2	3	0	0	2	3	0	0	5	7			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:76740853C>T	ENST00000393262.3	-	2	995	c.912G>A	c.(910-912)caG>caA	p.Q304Q		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	304					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ATTTTACATTCTGACTATGTA	0.338									Bardet-Biedl syndrome				6	24					0	0	0	0	T	76740853	C	T	76740853	2	4	51	1	0	0	0	0	0	0	0	1	1340	912	32	2		2	BBS10	12	76740853	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	22829765	76740853	57111042	137	9801											
NAV3	89795	broad.mit.edu	37	chr12	78531100	78531100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cttctctggaggaaagacctCgtgccatcagtcattcgggc	8	10	11	12	2	3	1	2	0	1	1	6	3	3	3	2	3	1	0	2	3	1	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:78531100C>G	ENST00000397909.2	+	19	4758	c.4585C>G	c.(4585-4587)Cgt>Ggt	p.R1529G	NAV3_ENST00000266692.7_Missense_Mutation_p.R1352G|NAV3_ENST00000228327.6_Missense_Mutation_p.R1529G|NAV3_ENST00000536525.2_Missense_Mutation_p.R1529G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1529	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R1529S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGAAAGACCTCGTGCCATCAG	0.493										HNSCC(70;0.22)			13	82					0	0	0	0	G	78531100	C	G	78531100	3	3	51	1	0	0	0	0	1	0	0	0	10255	884	31	3	4659	3	NAV3	12	78531100	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	1790247	78531100	55320795	138	9802											
NAV3	89795	broad.mit.edu	37	chr12	78593297	78593297	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttggaaacacacagttcttCtgacgttaccattggtgagt	10	14	9	8	1	2	2	0	2	2	0	2	3	2	3	1	2	2	2	1	2	2	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:78593297C>G	ENST00000397909.2	+	37	6874	c.6701C>G	c.(6700-6702)tCt>tGt	p.S2234C	NAV3_ENST00000266692.7_Missense_Mutation_p.S2035C|NAV3_ENST00000541270.1_Missense_Mutation_p.S64C|NAV3_ENST00000228327.6_Missense_Mutation_p.S2212C|NAV3_ENST00000536525.2_Missense_Mutation_p.S2212C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2234						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CACAGTTCTTCTGACGTTACC	0.373										HNSCC(70;0.22)			8	57					0	0	0	0	G	78593297	C	G	78593297	3	3	51	1	0	0	0	0	1	0	0	0	10255	913	32	2	6777	2	NAV3	12	78593297	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	62197	78593297	55258598	139	9803											
ACSS3	79611	broad.mit.edu	37	chr12	81613830	81613830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatgcaaaaactgaaggctCggtgtttaggaaatattgtg	14	11	11	5	1	0	1	0	1	0	0	1	2	0	2	0	3	2	3	0	3	6	4	rs142377880		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:81613830C>T	ENST00000548058.1	+	11	2399	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	ACSS3_ENST00000261206.3_Missense_Mutation_p.R496W|ACSS3_ENST00000548324.1_Missense_Mutation_p.R179W			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	497						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ACTGAAGGCTCGGTGTTTAGG	0.269													8	63					0	0	0	0	T	81613830	C	T	81613830	3	4	51	1	0	0	0	0	1	0	0	0	190	875	31	1	1531	1	ACSS3	12	81613830	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	3020533	81613830	52238065	140	9804											
ACACB	32	broad.mit.edu	37	chr12	109677702	109677702	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccatggacgagctggAggtggcgttcaataacacca	11	6	15	9	2	1	0	1	0	0	0	1	4	1	3	2	6	2	2	2	6	2	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:109677702A>T	ENST00000338432.7	+	35	4849	c.4730A>T	c.(4729-4731)gAg>gTg	p.E1577V	ACACB_ENST00000543201.1_Missense_Mutation_p.E243V|ACACB_ENST00000377854.5_Missense_Mutation_p.E1507V|ACACB_ENST00000377848.3_Missense_Mutation_p.E1577V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1577					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GACGAGCTGGAGGTGGCGTTC	0.597													16	82					0	0	0	0	T	109677702	A	T	109677702	3	4	51	1	0	0	0	0	1	0	0	0	107	304	11	5	4864	5	ACACB	12	109677702	Missense_Mutation	SNP	A	TCGA-BB-A5HU-01A-11D-A28R-08	28063872	109677702	24174193	141	9805											
VSIG10	54621	broad.mit.edu	37	chr12	118520021	118520021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttcccttggaggtttggcGatatcagtaacagtgagaaa	12	11	12	6	1	1	1	1	1	0	1	2	4	2	2	1	3	1	3	1	3	3	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:118520021G>A	ENST00000359236.5	-	3	851	c.575C>T	c.(574-576)tCg>tTg	p.S192L		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	192	Ig-like C2-type 2.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GAGGTTTGGCGATATCAGTAA	0.517													19	110					0	0	0	0	A	118520021	G	A	118520021	3	1	51	1	0	0	0	0	1	0	0	0	17319	1059	37	1	1075	1	VSIG10	12	118520021	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	8842319	118520021	15331874	142	9806											
DHX37	57647	broad.mit.edu	37	chr12	125432580	125432580	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagcacaaagcccctgcctCagtgaccccatcctgtctac	11	7	6	17	0	2	1	1	1	1	0	3	1	3	1	6	0	4	1	6	0	3	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:125432580C>T	ENST00000544745.1	-	23	2908	c.2799G>A	c.(2797-2799)ctG>ctA	p.L933L	DHX37_ENST00000308736.2_Intron			Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	0							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCCCCTGCCTCAGTGACCCCA	0.597													16	27					0	0	0	0	T	125432580	C	T	125432580	2	4	51	1	0	0	0	0	0	0	0	1	4547	841	29	2		2	DHX37	12	125432580	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	6912559	125432580	8419315	143	9807											
RIMBP2	23504	broad.mit.edu	37	chr12	130912804	130912804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagaatacagctcctcctCgtcctcctccatgatgtctg	7	13	6	15	1	2	2	1	1	1	1	8	2	7	2	5	0	2	1	5	0	2	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:130912804C>T	ENST00000261655.4	-	12	2444	c.2281G>A	c.(2281-2283)Gag>Aag	p.E761K		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	761						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGCTCCTCCTCGTCCTCCTCC	0.617													26	60					0	0	0	0	T	130912804	C	T	130912804	3	4	51	1	0	0	0	0	1	0	0	0	13446	893	31	1	909	1	RIMBP2	12	130912804	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	5480224	130912804	2939091	144	9808											
FRY	10129	broad.mit.edu	37	chr13	32841311	32841311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcattttttccagctttGgagaaggtgacaggggagtc	8	15	12	6	0	1	2	1	1	0	1	3	4	2	3	1	4	1	1	1	4	1	6			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr13:32841311G>A	ENST00000380250.3	+	55	8447	c.7951G>A	c.(7951-7953)Gga>Aga	p.G2651R	FRY_ENST00000542859.1_Missense_Mutation_p.G21R	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTCCAGCTTTGGAGAAGGTGA	0.517													11	93					0	0	0	0	A	32841311	G	A	32841311	3	1	51	1	0	0	0	0	1	0	0	0	6111	1349	47	4	8169	4	FRY	13	32841311	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08		32841311	82328567	145	9809											
NBEA	26960	broad.mit.edu	37	chr13	36229032	36229032	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacggcagatcacagacctCgttgaccagagtatacaaat	16	7	8	10	2	1	4	1	1	0	3	2	4	1	4	2	1	2	3	2	1	4	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr13:36229032C>T	ENST00000540320.1	+	53	8547	c.8013C>T	c.(8011-8013)ctC>ctT	p.L2671L	NBEA_ENST00000400445.3_Silent_p.L2671L|NBEA_ENST00000379939.2_Silent_p.L2668L|NBEA_ENST00000310336.4_Silent_p.L2671L|NBEA_ENST00000537702.1_Silent_p.L464L|NBEA_ENST00000379922.3_Silent_p.L249L			Q8NFP9	NBEA_HUMAN	neurobeachin	2671						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCACAGACCTCGTTGACCAGA	0.368													4	16					0	0	0	0	T	36229032	C	T	36229032	2	4	51	1	0	0	0	0	0	0	0	1	10257	871	31	1		1	NBEA	13	36229032	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	3387721	36229032	78940846	146	9810											
TSC22D1	8848	broad.mit.edu	37	chr13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-																															gttgctgttgttgttgttgtTgctgctgctgctgctgcacc																								rs112613609		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)caa>ca	p.QQ507del	TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	507	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507													8	98	---	---	---	---					-	45148708	TGC	-	45148706	7	5	51	1	0	1	0	1	0	0	0	0	16702	1812	63	0	1857	0	TSC22D1	13	45148706	In_Frame_Del	DEL	TGC	TCGA-BB-A5HU-01A-11D-A28R-08	8919674	45148706	70021172	147	9811											
KCTD12	115207	broad.mit.edu	37	chr13	77460092	77460092	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgcggctgctgctgcgtGaacatgcgccagagcagcga	7	7	14	13	4	0	2	0	1	0	1	1	3	1	2	2	1	8	4	2	1	1	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr13:77460092G>A	ENST00000377474.2	-	1	433	c.192C>T	c.(190-192)ttC>ttT	p.F64F	KCTD12_ENST00000317765.2_Silent_p.F64F	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	64						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		GCTGCTGCGTGAACATGCGCC	0.662													5	12					0	0	0	0	A	77460092	G	A	77460092	2	1	51	1	0	0	0	0	0	0	0	1	8152	1281	45	2		2	KCTD12	13	77460092	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	32311386	77460092	37709786	148	9812											
RNASE9	390443	broad.mit.edu	37	chr14	21024726	21024726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatttcattttgccatgaaCaagtgataaggacgtagccc	12	11	9	9	1	1	2	1	2	0	0	1	3	1	3	2	1	3	2	2	1	4	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:21024726C>A	ENST00000557068.1	-	4	2228	c.503G>T	c.(502-504)tGt>tTt	p.C168F	RNASE9_ENST00000556208.1_Missense_Mutation_p.C173F|RNASE9_ENST00000555230.1_Missense_Mutation_p.C168F|RNASE9_ENST00000553541.1_Missense_Mutation_p.C168F|RNASE9_ENST00000429244.2_Missense_Mutation_p.C168F|RNASE9_ENST00000557209.1_Missense_Mutation_p.C173F|RNASE9_ENST00000553706.1_Missense_Mutation_p.C173F|RNASE9_ENST00000554964.1_Missense_Mutation_p.C168F|RNASE9_ENST00000404716.3_Missense_Mutation_p.C173F|RNASE9_ENST00000338904.3_Missense_Mutation_p.C168F			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	168						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TTGCCATGAACAAGTGATAAG	0.388													5	34					0.014758	0.014927	1	0	A	21024726	C	A	21024726	3	1	51	1	0	0	0	0	1	0	0	0	13495	478	17	4	118	4	RNASE9	14	21024726	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08		21024726	86324814	149	9813											
MMP14	4323	broad.mit.edu	37	chr14	23314558	23314558	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtctcccagagggtcatTcatgggcagcgatgaaggtg	9	9	15	8	1	3	3	2	2	1	1	4	4	3	3	1	3	1	1	1	3	1	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:23314558T>A	ENST00000311852.6	+	9	1661	c.1400T>A	c.(1399-1401)tTc>tAc	p.F467Y	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	467	Hemopexin-like 4.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		AGAGGGTCATTCATGGGCAGC	0.557													17	39					0	0	0	0	A	23314558	T	A	23314558	3	1	51	1	0	0	0	0	1	0	0	0	9722	1783	62	5	1434	5	MMP14	14	23314558	Missense_Mutation	SNP	T	TCGA-BB-A5HU-01A-11D-A28R-08	2289832	23314558	84034982	150	9814											
NYNRIN	57523	broad.mit.edu	37	chr14	24878576	24878576	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaagggaagcccgtggctCaaggggggctgacagatcag	10	4	18	9	1	2	2	2	1	0	1	2	3	2	3	1	6	1	3	1	6	3	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:24878576C>T	ENST00000382554.3	+	4	1894	c.1576C>T	c.(1576-1578)Caa>Taa	p.Q526*		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	526					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCCCGTGGCTCAAGGGGGGCT	0.567													9	82					0	0	0	0	T	24878576	C	T	24878576	4	4	51	1	0	0	0	0	0	1	0	0	10867	827	29	2	1586	2	NYNRIN	14	24878576	Nonsense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	1564018	24878576	82470964	151	9815											
CMA1	1215	broad.mit.edu	37	chr14	24974771	24974771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggccggtaatgggagattCgggtgaagacagcagggggc	10	5	20	6	2	0	3	0	1	0	2	1	4	0	3	1	6	1	2	1	6	2	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:24974771C>T	ENST00000250378.3	-	5	724	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	CMA1_ENST00000206446.4_Missense_Mutation_p.R121Q|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	232	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ATGGGAGATTCGGGTGAAGAC	0.587													24	140					0	0	0	0	T	24974771	C	T	24974771	3	4	51	1	0	0	0	0	1	0	0	0	3604	884	31	1	52	1	CMA1	14	24974771	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	96195	24974771	82374769	152	9816											
DAAM1	23002	broad.mit.edu	37	chr14	59757989	59757989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatgtttgcacttccagctGagaaaaaatggcaaatatac	15	10	7	9	0	0	1	0	1	0	1	1	2	1	1	2	1	3	4	2	1	6	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:59757989G>A	ENST00000395125.1	+	2	261	c.238G>A	c.(238-240)Gag>Aag	p.E80K	DAAM1_ENST00000351081.1_Missense_Mutation_p.E80K|DAAM1_ENST00000360909.3_Missense_Mutation_p.E80K|DAAM1_ENST00000556135.1_Missense_Mutation_p.E80K	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	80	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ACTTCCAGCTGAGAAAAAATG	0.333													14	27					0	0	0	0	A	59757989	G	A	59757989	3	1	51	1	0	0	0	0	1	0	0	0	4248	1291	45	2	244	2	DAAM1	14	59757989	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	34783218	59757989	47591551	153	9817											
SYNE2	23224	broad.mit.edu	37	chr14	64596788	64596788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtacttgacagtatgtgggGaatgctaagagccaggtaca	12	10	13	6	0	0	2	0	1	0	1	0	3	0	3	1	3	4	4	1	3	5	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:64596788G>A	ENST00000357395.3	+	77	14461	c.3317G>A	c.(3316-3318)gGa>gAa	p.G1106E	SYNE2_ENST00000554584.1_Missense_Mutation_p.G4638E|SYNE2_ENST00000358025.3_Missense_Mutation_p.G4721E|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.G1106E|SYNE2_ENST00000344113.4_Missense_Mutation_p.G4721E|SYNE2_ENST00000555002.1_Missense_Mutation_p.G1355E			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4721					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTATGTGGGGAATGCTAAGA	0.478													23	51					0	0	0	0	A	64596788	G	A	64596788	3	1	51	1	0	0	0	0	1	0	0	0	15537	1174	41	2	14460	2	SYNE2	14	64596788	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	4838799	64596788	42752752	154	9818											
RDH11	51109	broad.mit.edu	37	chr14	68151846	68151846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaaagccaccacatccatCtcatgaaagatgagtgccga	16	6	8	11	1	1	4	1	2	1	2	3	5	2	4	4	0	2	0	4	0	3	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:68151846C>G	ENST00000381346.4	-	6	850	c.740G>C	c.(739-741)aGa>aCa	p.R247T	RDH11_ENST00000553384.1_Missense_Mutation_p.R234T|RP11-1012A1.4_ENST00000553306.1_Missense_Mutation_p.D78H|RP11-1012A1.4_ENST00000554493.1_5'UTR|RDH11_ENST00000428130.2_Missense_Mutation_p.R177T	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	247					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CCACATCCATCTCATGAAAGA	0.512													9	75					0	0	0	0	G	68151846	C	G	68151846	3	3	51	1	0	0	0	0	1	0	0	0	13272	913	32	2	224	2	RDH11	14	68151846	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	3555058	68151846	39197694	155	9819											
SERPINA10	51156	broad.mit.edu	37	chr14	94756848	94756848	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaggggctggggtctctggcGactgaggactgggggccaag	6	6	21	8	1	1	1	0	1	1	0	2	4	1	2	1	8	0	1	1	8	1	0	rs2232697		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:94756848G>C	ENST00000554723.1	-	2	621	c.203C>G	c.(202-204)tCg>tGg	p.S68W	SERPINA10_ENST00000261994.4_Missense_Mutation_p.S28W|SERPINA10_ENST00000393096.1_Missense_Mutation_p.S28W|SERPINA10_ENST00000554173.1_Missense_Mutation_p.S28W			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	28					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.S28L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTCTCTGGCGACTGAGGACT	0.642													17	23					0	0	0	0	C	94756848	G	C	94756848	3	2	51	1	0	0	0	0	1	0	0	0	14174	1059	37	3	1267	3	SERPINA10	14	94756848	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	26605002	94756848	12592692	156	9820											
WARS	7453	broad.mit.edu	37	chr14	100801248	100801248	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagcttccggggagtcatGaactctttcactatctcatc	9	12	8	12	1	4	1	3	1	2	0	7	3	5	2	1	2	2	1	1	2	2	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:100801248G>C	ENST00000355338.2	-	11	1998	c.1380C>G	c.(1378-1380)ttC>ttG	p.F460L	WARS_ENST00000557135.1_Missense_Mutation_p.F460L|WARS_ENST00000344102.5_Missense_Mutation_p.F419L|WARS_ENST00000556645.1_Missense_Mutation_p.F419L|WARS_ENST00000392882.2_Missense_Mutation_p.F460L|WARS_ENST00000358655.4_Missense_Mutation_p.F419L|RP11-638I2.8_ENST00000557226.1_RNA	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	460					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GGGGAGTCATGAACTCTTTCA	0.493													33	118					0	0	0	0	C	100801248	G	C	100801248	3	2	51	1	0	0	0	0	1	0	0	0	17345	1281	45	2	39	2	WARS	14	100801248	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	6044400	100801248	6548292	157	9821											
BEGAIN	57596	broad.mit.edu	37	chr14	101004846	101004846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggacgccactggcccctCatgtcctccccggggagccg	5	5	14	17	3	1	0	1	0	0	0	3	2	3	2	7	5	1	0	7	5	0	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:101004846C>G	ENST00000556751.1	-	5	4454	c.1050G>C	c.(1048-1050)atG>atC	p.M350I	BEGAIN_ENST00000443071.2_Missense_Mutation_p.M414I|BEGAIN_ENST00000355173.2_Missense_Mutation_p.M414I			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	414						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				ACTGGCCCCTCATGTCCTCCC	0.726													3	26					0	0	0	0	G	101004846	C	G	101004846	3	3	51	1	0	0	0	0	1	0	0	0	1401	826	29	2	543	2	BEGAIN	14	101004846	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	203598	101004846	6344694	158	9822											
DYNC1H1	1778	broad.mit.edu	37	chr14	102489170	102489170	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttccctaacatcgacagaGagaaggcaatgagccgaccc	14	5	9	13	2	0	3	0	1	0	2	2	6	1	3	3	1	2	1	3	1	3	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:102489170G>C	ENST00000360184.4	+	43	8754	c.8590G>C	c.(8590-8592)Gag>Cag	p.E2864Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2864					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CATCGACAGAGAGAAGGCAAT	0.493													33	124					0	0	0	0	C	102489170	G	C	102489170	3	2	51	1	0	0	0	0	1	0	0	0	4877	943	33	2	8760	2	DYNC1H1	14	102489170	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	1484324	102489170	4860370	159	9823											
AHNAK2	113146	broad.mit.edu	37	chr14	105410637	105410637	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttgggcaggtgctctttGaggccggctccctcgggcac	4	9	14	14	2	1	1	0	1	1	0	3	1	2	1	3	5	1	4	3	5	0	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:105410637G>C	ENST00000333244.5	-	7	11270	c.11151C>G	c.(11149-11151)ctC>ctG	p.L3717L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3717						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTGCTCTTTGAGGCCGGCTC	0.627													166	297					0	0	0	0	C	105410637	G	C	105410637	2	2	51	1	0	0	0	0	0	0	0	1	415	1277	45	2		2	AHNAK2	14	105410637	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	2921467	105410637	1938903	160	9824											
CHRM5	1133	broad.mit.edu	37	chr15	34356456	34356456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagatgctgcttctctgccGatggaaaaagaaaaaagtgg	15	9	11	6	1	1	2	0	0	1	2	2	4	1	3	1	2	3	2	1	2	6	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr15:34356456G>A	ENST00000383263.5	+	3	2208	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	CHRM5_ENST00000557872.1_Missense_Mutation_p.R513Q	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	513					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CTTCTCTGCCGATGGAAAAAG	0.463													9	50					0	0	0	0	A	34356456	G	A	34356456	3	1	51	1	0	0	0	0	1	0	0	0	3409	1058	37	1	1540	1	CHRM5	15	34356456	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08		34356456	68174936	161	9825											
PLCB2	5330	broad.mit.edu	37	chr15	40588791	40588791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctcctcctcttcctcttCcacctcctcctcctccagct	2	14	1	24	0	2	0	0	0	2	0	11	0	11	0	10	0	1	1	10	0	0	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr15:40588791C>T	ENST00000260402.3	-	15	1780	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	PLCB2_ENST00000557821.1_Missense_Mutation_p.E507K|PLCB2_ENST00000456256.2_Missense_Mutation_p.E511K	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	511	Glu-rich.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		tcttcctcttccacctcctcc	0.597													5	34					0	0	0	0	T	40588791	C	T	40588791	3	4	51	1	0	0	0	0	1	0	0	0	12100	864	30	2	2098	2	PLCB2	15	40588791	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	6232335	40588791	61942601	162	9826											
VPS18	57617	broad.mit.edu	37	chr15	41193186	41193186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaggtcctagagctgtatGaggaggccgtggacctggcc	9	7	15	10	1	0	2	0	1	0	1	1	4	1	4	4	5	1	2	4	5	3	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr15:41193186G>A	ENST00000220509.5	+	4	2509	c.2170G>A	c.(2170-2172)Gag>Aag	p.E724K	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	724					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGAGCTGTATGAGGAGGCCGT	0.602													25	54					0	0	0	0	A	41193186	G	A	41193186	3	1	51	1	0	0	0	0	1	0	0	0	17290	1291	45	2	2184	2	VPS18	15	41193186	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	604395	41193186	61338206	163	9827											
MAPKBP1	23005	broad.mit.edu	37	chr15	42116199	42116199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttgcagcccccaccccctGagaagactcccaaccccatg	10	5	6	20	0	0	2	0	1	0	2	1	3	1	2	7	0	3	1	7	0	2	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr15:42116199G>A	ENST00000457542.2	+	29	4439	c.4153G>A	c.(4153-4155)Gag>Aag	p.E1385K	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E1224K|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E1268K|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.E1391K	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1391								p.E1385K(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCCACCCCCTGAGAAGACTCC	0.637													11	229					0	0	0	0	A	42116199	G	A	42116199	3	1	51	1	0	0	0	0	1	0	0	0	9361	1291	45	2	4285	2	MAPKBP1	15	42116199	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	923013	42116199	60415193	164	9828											
RASGRF1	5923	broad.mit.edu	37	chr15	79291097	79291097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccagtggcggagcacgttCaagacacgattggtggctgc	9	7	14	11	3	1	1	1	0	0	1	1	3	1	2	1	4	2	3	1	4	1	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr15:79291097C>G	ENST00000419573.3	-	19	3139	c.2865G>C	c.(2863-2865)ttG>ttC	p.L955F	RASGRF1_ENST00000558480.2_Missense_Mutation_p.L939F|RASGRF1_ENST00000394745.3_Missense_Mutation_p.L171F|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	957					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGAGCACGTTCAAGACACGAT	0.632													14	88					0	0	0	0	G	79291097	C	G	79291097	3	3	51	1	0	0	0	0	1	0	0	0	13154	825	29	2	996	2	RASGRF1	15	79291097	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	37174898	79291097	23240295	165	9829											
KIF7	374654	broad.mit.edu	37	chr15	90172250	90172250	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaccgccgagcttctgtttCagttcctggtttatccacat	7	14	7	13	2	2	0	1	0	1	0	4	1	4	0	4	1	1	4	4	1	1	5	rs138986036	byFrequency	TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr15:90172250C>G	ENST00000394412.3	-	18	3697	c.3621G>C	c.(3619-3621)ctG>ctC	p.L1207L		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1207					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GCTTCTGTTTCAGTTCCTGGT	0.547													21	120					0	0	0	0	G	90172250	C	G	90172250	2	3	51	1	0	0	0	0	0	0	0	1	8360	813	29	2		2	KIF7	15	90172250	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	10881153	90172250	12359142	166	9830											
RGMA	56963	broad.mit.edu	37	chr15	93588297	93588297	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggccggggggccaggggCagccccgcagccgccctgcc	4	1	19	17	3	0	0	0	0	0	0	0	0	0	0	7	7	3	2	7	7	0	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr15:93588297C>T	ENST00000329082.7	-	4	1555	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L	RGMA_ENST00000425933.2_Silent_p.L412L|RGMA_ENST00000538818.1_Silent_p.L319L|RGMA_ENST00000543599.1_Silent_p.L412L|RGMA_ENST00000542321.2_Silent_p.L412L|RGMA_ENST00000556658.1_Silent_p.L319L|RGMA_ENST00000557301.1_Silent_p.L436L|RGMA_ENST00000557420.1_3'UTR	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	428					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GGGCCAGGGGCAGCCCCGCAG	0.667													3	10					0	0	0	0	T	93588297	C	T	93588297	2	4	51	1	0	0	0	0	0	0	0	1	13362	697	25	4		4	RGMA	15	93588297	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	3416047	93588297	8943095	167	9831											
ITFG3	83986	broad.mit.edu	37	chr16	312193	312193	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcctccttcacgtcaccagGacaggtgcccactacatcct	8	10	6	17	1	2	0	2	0	0	0	5	1	5	1	5	2	2	0	5	2	1	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:312193G>C	ENST00000399932.3	+	7	1261	c.810G>C	c.(808-810)agG>agC	p.R270S	ITFG3_ENST00000600536.1_Missense_Mutation_p.R270S|ITFG3_ENST00000301679.2_Missense_Mutation_p.R270S|ITFG3_ENST00000301678.3_Missense_Mutation_p.R270S|ITFG3_ENST00000450082.2_Missense_Mutation_p.R270S|ITFG3_ENST00000442458.2_Missense_Mutation_p.R270S			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	270						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				ACGTCACCAGGACAGGTGCCC	0.617													14	36					0	0	0	0	C	312193	G	C	312193	3	2	51	1	0	0	0	0	1	0	0	0	7924	1165	41	2	828	2	ITFG3	16	312193	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08		312193	90042560	168	9832											
ZNF213	7760	broad.mit.edu	37	chr16	3188497	3188497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcctcccccgacggtggggGcacggaggcggccgtctgtt	3	6	18	14	5	1	0	0	0	1	0	2	2	2	1	4	7	0	2	4	7	0	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:3188497G>A	ENST00000396878.3	+	3	953	c.478G>A	c.(478-480)Gca>Aca	p.A160T	ZNF213_ENST00000576416.1_Missense_Mutation_p.A160T|ZNF213_ENST00000574902.1_Missense_Mutation_p.A160T|ZNF213_ENST00000416391.2_Silent_p.G26G	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	160					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GACGGTGGGGGCACGGAGGCG	0.677													9	61					0	0	0	0	A	3188497	G	A	3188497	3	1	51	1	0	0	0	0	1	0	0	0	17864	1203	42	4	484	4	ZNF213	16	3188497	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	2876304	3188497	87166256	169	9833											
CLUAP1	23059	broad.mit.edu	37	chr16	3580624	3580624	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgaatccgacagtgagttgGaagaaaggcggctgcccaag	13	6	14	8	2	0	3	0	2	0	1	1	5	1	4	2	3	1	2	2	3	4	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:3580624G>C	ENST00000571025.1	+	10	1035	c.985G>C	c.(985-987)Gaa>Caa	p.E329Q	CLUAP1_ENST00000341633.5_Missense_Mutation_p.E329Q|CLUAP1_ENST00000576634.1_Missense_Mutation_p.E329Q|CLUAP1_ENST00000445795.2_Missense_Mutation_p.E88Q|CLUAP1_ENST00000572600.1_Missense_Mutation_p.E163Q|CLUAP1_ENST00000417763.2_Missense_Mutation_p.E163Q			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	329						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						CAGTGAGTTGGAAGAAAGGCG	0.547													14	31					0	0	0	0	C	3580624	G	C	3580624	3	2	51	1	0	0	0	0	1	0	0	0	3599	1175	41	2	1023	2	CLUAP1	16	3580624	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	392127	3580624	86774129	170	9834											
GRIN2A	2903	broad.mit.edu	37	chr16	9858337	9858337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggatagtgaatcctggcGtatggaatccacggatttct	9	12	12	8	2	1	1	0	1	1	0	3	4	3	4	2	4	0	1	2	4	4	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:9858337G>A	ENST00000396573.2	-	14	3373	c.3064C>T	c.(3064-3066)Cgc>Tgc	p.R1022C	GRIN2A_ENST00000535259.1_Missense_Mutation_p.R865C|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1022C|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1022C|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1022C|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1022C	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1022					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1022C(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAATCCTGGCGTATGGAATCC	0.532													44	100					0	0	0	0	A	9858337	G	A	9858337	3	1	51	1	0	0	0	0	1	0	0	0	6829	1145	40	1	1334	1	GRIN2A	16	9858337	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	6277713	9858337	80496416	171	9835											
KIAA0430	9665	broad.mit.edu	37	chr16	15692843	15692843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtcgacgggggagtcgtCggtcaggcggagaagctcct	7	6	19	9	5	1	1	1	0	0	1	5	5	2	2	1	6	1	1	1	6	1	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:15692843C>T	ENST00000396368.3	-	26	5058	c.4852G>A	c.(4852-4854)Gac>Aac	p.D1618N	KIAA0430_ENST00000551742.1_Missense_Mutation_p.D1618N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.D1615N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.D1615N|KIAA0430_ENST00000344181.3_Missense_Mutation_p.D1306N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.D1453N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1617						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGGGAGTCGTCGGTCAGGCGG	0.652													14	47					0	0	0	0	T	15692843	C	T	15692843	3	4	51	1	0	0	0	0	1	0	0	0	8228	884	31	1	384	1	KIAA0430	16	15692843	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	5834506	15692843	74661910	172	9836											
TBC1D10B	26000	broad.mit.edu	37	chr16	30369853	30369853	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttgagctgggctgcattCtcccgctcaatcagtgcttc	5	14	9	13	1	4	1	2	1	2	0	6	1	4	1	1	1	3	5	1	1	1	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:30369853C>T	ENST00000409939.3	-	9	1919	c.1839G>A	c.(1837-1839)gaG>gaA	p.E613E		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	613						cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GGGCTGCATTCTCCCGCTCAA	0.637													6	27					0	0	0	0	T	30369853	C	T	30369853	2	4	51	1	0	0	0	0	0	0	0	1	15690	912	32	2		2	TBC1D10B	16	30369853	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	14677010	30369853	59984900	173	9837											
SRCAP	10847	broad.mit.edu	37	chr16	30748954	30748954	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctctcttgcttggtccAccttctgtgcccatctctgc	2	16	6	17	0	4	0	0	0	4	0	8	0	5	0	4	1	3	1	4	1	0	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:30748954A>C	ENST00000262518.4	+	34	7978	c.7593A>C	c.(7591-7593)ccA>ccC	p.P2531P	SRCAP_ENST00000395059.2_Silent_p.P2469P|SRCAP_ENST00000344771.4_Silent_p.P2373P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2531	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGCTTGGTCCACCTTCTGTGC	0.597													12	112					0	0	0	0	C	30748954	A	C	30748954	2	2	51	1	0	0	0	0	0	0	0	1	15225	146	6	5		5	SRCAP	16	30748954	Silent	SNP	A	TCGA-BB-A5HU-01A-11D-A28R-08	379101	30748954	59605799	174	9838											
CCDC135	84229	broad.mit.edu	37	chr16	57760012	57760012	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggttcttccgcaacccagcGaagcccgcggaggaggacgt	8	5	14	14	6	1	0	0	0	1	0	2	4	2	3	3	4	3	2	3	4	2	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:57760012G>A	ENST00000360716.3	+	14	2012	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A	CCDC135_ENST00000394337.4_Silent_p.A597A|CCDC135_ENST00000336825.8_Silent_p.A532A			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	597						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCAACCCAGCGAAGCCCGCGG	0.602													7	23					0	0	0	0	A	57760012	G	A	57760012	2	1	51	1	0	0	0	0	0	0	0	1	2794	1045	37	1		1	CCDC135	16	57760012	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	27011058	57760012	32594741	175	9839											
LRRC36	55282	broad.mit.edu	37	chr16	67400972	67400972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccgatccccagagaagatGactagagaagggtaccaagt	14	6	12	9	1	0	4	0	1	0	3	2	7	2	4	4	1	1	1	4	1	5	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:67400972G>A	ENST00000329956.6	+	8	826	c.807G>A	c.(805-807)atG>atA	p.M269I	LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000563189.1_Missense_Mutation_p.M148I|LRRC36_ENST00000435835.3_Missense_Mutation_p.M148I|LRRC36_ENST00000290940.7_Start_Codon_SNP_p.M1I	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	269										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CAGAGAAGATGACTAGAGAAG	0.403													15	88					0	0	0	0	A	67400972	G	A	67400972	3	1	51	1	0	0	0	0	1	0	0	0	9054	1290	45	2	865	2	LRRC36	16	67400972	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	9640960	67400972	22953781	176	9840											
MLKL	197259	broad.mit.edu	37	chr16	74729454	74729454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattagcctcctccagggCagccttgaagcggttcatgg	7	9	11	14	1	1	1	1	1	0	0	3	1	3	1	5	3	3	2	5	3	2	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:74729454C>A	ENST00000308807.7	-	2	665	c.202G>T	c.(202-204)Gcc>Tcc	p.A68S	MLKL_ENST00000306247.7_Missense_Mutation_p.A68S	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	68							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCCTCCAGGGCAGCCTTGAAG	0.512													8	59					1.12685e-05	1.17565e-05	1	0	A	74729454	C	A	74729454	3	1	51	1	0	0	0	0	1	0	0	0	9688	710	25	4	1284	4	MLKL	16	74729454	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	7328482	74729454	15625299	177	9841											
SPATA2L	124044	broad.mit.edu	37	chr16	89764256	89764256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtaggccagctccgccGggggcgagtcagggcctggt	4	6	18	13	3	1	0	1	0	0	0	2	1	2	0	5	5	1	2	5	5	1	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:89764256G>A	ENST00000289805.5	-	3	829	c.761C>T	c.(760-762)cCg>cTg	p.P254L	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	254										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGCTCCGCCGGGGGCGAGTC	0.692													6	18					0	0	0	0	A	89764256	G	A	89764256	3	1	51	1	0	0	0	0	1	0	0	0	15099	1116	39	1	517	1	SPATA2L	16	89764256	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	15034802	89764256	590497	178	9842											
TP53	7157	broad.mit.edu	37	chr17	7578402	7578402	+	Silent	SNP	G	G	A																															gagcagcgctcatggtggggGcagcgcctcacaacctccgt																										TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:7578402G>A	ENST00000420246.2	-	5	660	c.528C>T	c.(526-528)tgC>tgT	p.C176C	TP53_ENST00000413465.2_Silent_p.C176C|TP53_ENST00000445888.2_Silent_p.C176C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Silent_p.C176C|TP53_ENST00000359597.4_Silent_p.C176C|TP53_ENST00000269305.4_Silent_p.C176C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176*(12)|p.C176W(11)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178fs*69(3)|p.R175_E180delRCPHHE(3)|p.C83*(2)|p.V173fs*59(2)|p.C44*(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176F(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.P177fs*4(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATGGTGGGGGCAGCGCCTCA	0.647		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	31					0	0	0	0	A	7578402	G	A	7578402	2	1	51	1	0	0	0	0	0	0	0	1	16476	1195	42	4		4	TP53	17	7578402	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08		7578402	73616808	179	9843	92	2									
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T																															agcagcgctcatggtgggggCagcgcctcacaacctccgtc																										TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:7578403C>T	ENST00000420246.2	-	5	659	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	31					0	0	0	0	T	7578403	C	T	7578403	3	4	51	1	0	0	0	0	1	0	0	0	16476	710	25	4	771	4	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	1	7578403	73616807	180	9844	92	2									
KIAA0100	9703	broad.mit.edu	37	chr17	26962072	26962072	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtcccttcagccacttctGaactcccacagcctcatcta	9	11	4	17	0	4	1	2	1	2	0	6	1	6	1	4	0	3	0	4	0	3	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:26962072G>A	ENST00000528896.2	-	16	2607	c.2533C>T	c.(2533-2535)Cag>Tag	p.Q845*	KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.Q702*|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.Q702*|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	845						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGCCACTTCTGAACTCCCACA	0.527													43	198					0	0	0	0	A	26962072	G	A	26962072	4	1	51	1	0	0	0	0	0	1	0	0	8205	1299	45	2	4270	2	KIAA0100	17	26962072	Nonsense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	19383669	26962072	54233138	181	9845											
RFFL	117584	broad.mit.edu	37	chr17	33339032	33339032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggattacatactgccggcaGatgggacattcattcatgcg	10	10	11	10	3	2	1	2	0	0	1	2	3	2	3	1	3	4	1	1	3	2	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:33339032G>C	ENST00000315249.7	-	7	1269	c.1047C>G	c.(1045-1047)atC>atG	p.I349M	RFFL_ENST00000415395.2_Missense_Mutation_p.I349M|RFFL_ENST00000413582.2_Missense_Mutation_p.I341M|RFFL_ENST00000394597.2_Missense_Mutation_p.I349M|RFFL_ENST00000268850.7_Missense_Mutation_p.I313M|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.I258M|RFFL_ENST00000584655.1_Missense_Mutation_p.I313M|RFFL_ENST00000378516.2_Missense_Mutation_p.I341M|RFFL_ENST00000447669.2_Missense_Mutation_p.I349M			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	349					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACTGCCGGCAGATGGGACATT	0.522													13	83					0	0	0	0	C	33339032	G	C	33339032	3	2	51	1	0	0	0	0	1	0	0	0	13332	932	33	2	48	2	RFFL	17	33339032	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	6376960	33339032	47856178	182	9846											
ERBB2	2064	broad.mit.edu	37	chr17	37868215	37868215	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acggacgtgggatcctgcacCctcgtctgccccctgcacaa	7	7	10	17	3	1	0	0	0	1	0	3	2	2	2	4	2	3	2	4	2	1	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:37868215C>G	ENST00000406381.2	+	10	1356	c.846C>G	c.(844-846)acC>acG	p.T282T	ERBB2_ENST00000578199.1_Silent_p.T282T|ERBB2_ENST00000584601.1_Silent_p.T282T|ERBB2_ENST00000584450.1_Silent_p.T312T|ERBB2_ENST00000269571.5_Silent_p.T312T|ERBB2_ENST00000541774.1_Silent_p.T297T|ERBB2_ENST00000540147.1_Silent_p.T282T|ERBB2_ENST00000445658.2_Silent_p.T36T|ERBB2_ENST00000540042.1_Silent_p.T282T	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	312					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GATCCTGCACCCTCGTCTGCC	0.572		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			36	230					0	0	0	0	G	37868215	C	G	37868215	2	3	51	1	0	0	0	0	0	0	0	1	5244	610	22	4		4	ERBB2	17	37868215	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	4529183	37868215	43326995	183	9847											
KRT12	3859	broad.mit.edu	37	chr17	39021192	39021192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcctctacgccctggcGcagggccagttcattctcat	5	10	11	15	3	3	0	2	0	2	0	5	0	3	0	3	3	1	2	3	3	1	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:39021192G>A	ENST00000251643.4	-	3	696	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	225	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity	p.R225C(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				ACGCCCTGGCGCAGGGCCAGT	0.552													15	67					0	0	0	0	A	39021192	G	A	39021192	3	1	51	1	0	0	0	0	1	0	0	0	8501	1087	38	1	835	1	KRT12	17	39021192	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	1152977	39021192	42174018	184	9848											
PRR15L	79170	broad.mit.edu	37	chr17	46030325	46030325	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcctcgtgatcatcaaaGaggttagggttctctgccag	8	12	10	11	1	3	2	2	1	1	1	6	2	4	2	3	2	1	2	3	2	2	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:46030325G>C	ENST00000300557.2	-	2	526	c.276C>G	c.(274-276)ctC>ctG	p.L92L	RP11-6N17.9_ENST00000582262.1_RNA	NM_024320.3	NP_077296.1	Q9BU68	PR15L_HUMAN	proline rich 15-like	92										NS(1)|cervix(1)|ovary(1)|pancreas(1)	4						GATCATCAAAGAGGTTAGGGT	0.542													10	95					0	0	0	0	C	46030325	G	C	46030325	2	2	51	1	0	0	0	0	0	0	0	1	12668	929	33	2		2	PRR15L	17	46030325	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	7009133	46030325	35164885	185	9849											
SCN4A	6329	broad.mit.edu	37	chr17	62022765	62022765	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacccacgttgtcgtagttGaccttgacattgagccagcg	9	10	11	11	3	0	4	0	3	0	1	1	4	0	4	3	0	2	3	3	0	1	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:62022765G>C	ENST00000435607.1	-	19	3751	c.3675C>G	c.(3673-3675)gtC>gtG	p.V1225V	SCN4A_ENST00000578147.1_Silent_p.V1225V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1225					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGTCGTAGTTGACCTTGACAT	0.617													63	93					0	0	0	0	C	62022765	G	C	62022765	2	2	51	1	0	0	0	0	0	0	0	1	14007	1277	45	2		2	SCN4A	17	62022765	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	15992440	62022765	19172445	186	9850											
HELZ	9931	broad.mit.edu	37	chr17	65103405	65103405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggttctgcggtggcctGtgaggcaatggaggtaggcc	8	8	18	7	1	1	1	0	1	1	0	1	2	1	2	2	7	1	3	2	7	3	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:65103405G>T	ENST00000358691.5	-	31	5287	c.5121C>A	c.(5119-5121)caC>caA	p.H1707Q	HELZ_ENST00000580168.1_Missense_Mutation_p.H1708Q	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GCGGTGGCCTGTGAGGCAATG	0.458													31	173					1.80694e-10	1.92305e-10	1	0	T	65103405	G	T	65103405	3	4	51	1	0	0	0	0	1	0	0	0	7099	1368	48	4	719	4	HELZ	17	65103405	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	3080640	65103405	16091805	187	9851											
ITGB4	3691	broad.mit.edu	37	chr17	73729698	73729698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcactgtgtgtgctacggcGaaggccgctacgagggtcag	7	7	17	10	4	1	0	1	0	0	0	1	2	1	0	1	4	3	3	1	4	3	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:73729698G>A	ENST00000200181.3	+	13	1769	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	ITGB4_ENST00000579662.1_Missense_Mutation_p.E528K|ITGB4_ENST00000339591.3_Missense_Mutation_p.E528K|ITGB4_ENST00000450894.3_Missense_Mutation_p.E528K|ITGB4_ENST00000449880.2_Missense_Mutation_p.E528K|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	528	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGCTACGGCGAAGGCCGCTA	0.632													24	90					0	0	0	0	A	73729698	G	A	73729698	3	1	51	1	0	0	0	0	1	0	0	0	7950	1059	37	1	1628	1	ITGB4	17	73729698	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	8626293	73729698	7465512	188	9852											
L3MBTL4	91133	broad.mit.edu	37	chr18	6239864	6239864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaattctttagacattGgcccattctaacgcagcacc	11	11	6	13	1	2	2	0	1	2	1	2	2	2	2	3	1	2	2	3	1	3	6			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr18:6239864G>C	ENST00000400104.3	-	9	760	c.560C>G	c.(559-561)cCa>cGa	p.P187R	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.P187R|L3MBTL4_ENST00000535782.1_5'UTR|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.P187R|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.P187R			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	187					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTTAGACATTGGCCCATTCTA	0.468													15	64					0	0	0	0	C	6239864	G	C	6239864	3	2	51	1	0	0	0	0	1	0	0	0	8647	1348	47	4	1359	4	L3MBTL4	18	6239864	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08		6239864	71837384	189	9853											
LAMA1	284217	broad.mit.edu	37	chr18	7012122	7012122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgacattcgttgcactgagGaccaaagacattttcctaca	12	11	7	11	2	0	2	0	1	0	1	3	4	1	3	2	1	2	2	2	1	2	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr18:7012122G>A	ENST00000389658.3	-	24	3472	c.3379C>T	c.(3379-3381)Cct>Tct	p.P1127S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1127	Laminin EGF-like 13.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCACTGAGGACCAAAGACA	0.517													19	21					0	0	0	0	A	7012122	G	A	7012122	3	1	51	1	0	0	0	0	1	0	0	0	8658	1174	41	2	6008	2	LAMA1	18	7012122	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	772258	7012122	71065126	190	9854											
CIDEA	1149	broad.mit.edu	37	chr18	12277158	12277158	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcctactccgcccaggtGacgggacagtttctcatcta	7	11	9	14	2	2	1	1	1	2	0	5	2	4	2	3	2	1	1	3	2	2	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr18:12277158G>A	ENST00000320477.9	+	5	614	c.549G>A	c.(547-549)gtG>gtA	p.V183V	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	183					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CCGCCCAGGTGACGGGACAGT	0.577													32	122					0	0	0	0	A	12277158	G	A	12277158	2	1	51	1	0	0	0	0	0	0	0	1	3454	1277	45	2		2	CIDEA	18	12277158	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	5265036	12277158	65800090	191	9855											
RAVER1	125950	broad.mit.edu	37	chr19	10439531	10439531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggcagccgagtccttcttCatgtactcagcaaagccata	10	9	9	13	2	3	0	2	0	1	0	4	1	4	0	3	1	4	3	3	1	3	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:10439531C>T	ENST00000293677.6	-	3	675	c.594G>A	c.(592-594)atG>atA	p.M198I		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	181	RRM 2.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			AGTCCTTCTTCATGTACTCAG	0.642													7	32					0	0	0	0	T	10439531	C	T	10439531	3	4	51	1	0	0	0	0	1	0	0	0	13176	826	29	2	1720	2	RAVER1	19	10439531	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08		10439531	48689452	192	9856											
LPPR2	64748	broad.mit.edu	37	chr19	11474442	11474442	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaccctctggccgaaggctCtctccctgggaggacctggg	5	7	13	16	1	2	0	0	0	2	0	4	3	3	2	5	5	0	1	5	5	1	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:11474442C>G	ENST00000251473.5	+	8	1270	c.894C>G	c.(892-894)ctC>ctG	p.L298L	DKFZP761J1410_ENST00000591608.1_Silent_p.L273L	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					GCCGAAGGCTCTCTCCCTGGG	0.632													8	53					0	0	0	0	G	11474442	C	G	11474442	2	3	51	1	0	0	0	0	0	0	0	1	8989	900	32	2		2	LPPR2	19	11474442	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	1034911	11474442	47654541	193	9857											
ZNF878	729747	broad.mit.edu	37	chr19	12155088	12155088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaggaattggaagaagtGaaggttttcccacattgttt	13	13	11	4	0	0	3	0	2	0	1	1	5	1	5	1	3	0	2	1	3	5	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:12155088G>A	ENST00000602107.1	-	5	1268	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Silent_p.F376F			C9JN71	ZN878_HUMAN	zinc finger protein 878	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGGAAGAAGTGAAGGTTTTCC	0.423													10	48					0	0	0	0	A	12155088	G	A	12155088	2	1	51	1	0	0	0	0	0	0	0	1	18289	1281	45	2		2	ZNF878	19	12155088	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	680646	12155088	46973895	194	9858											
MAST1	22983	broad.mit.edu	37	chr19	12978692	12978692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggcccggctgcgcaggcctCcccggcccagctccgacccc	4	3	12	22	4	0	0	0	0	0	0	2	1	2	0	8	4	2	3	8	4	0	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:12978692C>T	ENST00000251472.4	+	20	2506	c.2467C>T	c.(2467-2469)Ccc>Tcc	p.P823S		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	823					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCGCAGGCCTCCCCGGCCCAG	0.736													6	20					0	0	0	0	T	12978692	C	T	12978692	3	4	51	1	0	0	0	0	1	0	0	0	9393	855	30	2	2545	2	MAST1	19	12978692	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	823604	12978692	46150291	195	9859											
MAST3	23031	broad.mit.edu	37	chr19	18255834	18255834	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggcagcggcggcccccTcatgagccccctttccccgc	4	7	11	19	3	1	2	1	2	0	0	2	2	2	2	6	3	2	1	6	3	0	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:18255834T>C	ENST00000262811.5	+	23	2747	c.2747T>C	c.(2746-2748)cTc>cCc	p.L916P	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	916	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGCGGCCCCCTCATGAGCCCC	0.692													10	41					0	0	0	0	C	18255834	T	C	18255834	3	2	51	1	0	0	0	0	1	0	0	0	9395	1551	54	5	2837	5	MAST3	19	18255834	Missense_Mutation	SNP	T	TCGA-BB-A5HU-01A-11D-A28R-08	5277142	18255834	40873149	196	9860											
ARMC6	93436	broad.mit.edu	37	chr19	19165128	19165128	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagggaccagagcggcgttCaggtatgaagtccccctggc	8	7	15	11	2	1	3	1	2	0	1	2	4	2	4	3	4	1	2	3	4	2	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:19165128C>T	ENST00000535612.1	+	6	1453	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	ARMC6_ENST00000392336.3_Nonsense_Mutation_p.Q341*|ARMC6_ENST00000269932.6_Nonsense_Mutation_p.Q316*|ARMC6_ENST00000392335.2_Nonsense_Mutation_p.Q316*|ARMC6_ENST00000546344.1_Nonsense_Mutation_p.Q248*	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	341							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GAGCGGCGTTCAGGTATGAAG	0.617											OREG0025376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	65					0	0	0	0	T	19165128	C	T	19165128	4	4	51	1	0	0	0	0	0	1	0	0	959	827	29	2	960	2	ARMC6	19	19165128	Nonsense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	909294	19165128	39963855	197	9861											
LGI4	163175	broad.mit.edu	37	chr19	35616130	35616130	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgatctcgtgatgctggtaGatctgtgtggggcccttaaa	7	13	13	8	2	2	2	0	1	2	1	4	3	2	2	1	3	1	2	1	3	3	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:35616130G>C	ENST00000310123.3	-	9	2100	c.1581C>G	c.(1579-1581)atC>atG	p.I527M	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	527						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GATGCTGGTAGATCTGTGTGG	0.652													15	89					0	0	0	0	C	35616130	G	C	35616130	3	2	51	1	0	0	0	0	1	0	0	0	8808	932	33	2	36	2	LGI4	19	35616130	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	16451002	35616130	23512853	198	9862											
NPHS1	4868	broad.mit.edu	37	chr19	36340175	36340175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctaagggattaccccctCgggccacgcacggcagctcc	7	6	12	16	3	0	0	0	0	0	0	2	1	1	1	4	4	2	4	4	4	2	2	rs115308424	by1000genomes	TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:36340175C>T	ENST00000378910.5	-	7	802	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	NPHS1_ENST00000353632.6_Missense_Mutation_p.R268Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	268	Ig-like C2-type 3.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATTACCCCCTCGGGCCACGCA	0.662													15	42					0	0	0	0	T	36340175	C	T	36340175	3	4	51	1	0	0	0	0	1	0	0	0	10652	884	31	1	3014	1	NPHS1	19	36340175	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	724045	36340175	22788808	199	9863											
ZNF829	374899	broad.mit.edu	37	chr19	37405914	37405914	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcattctttcctcctcttCtgggtgacacctggagaaag	8	13	9	11	0	3	2	0	1	3	1	5	3	5	2	3	2	1	1	3	2	1	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:37405914C>G	ENST00000520965.1	-	3	358	c.292G>C	c.(292-294)Gaa>Caa	p.E98Q	ZNF829_ENST00000391711.3_Missense_Mutation_p.E17Q	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCTCCTCTTCTGGGTGACAC	0.423													4	50					0	0	0	0	G	37405914	C	G	37405914	3	3	51	1	0	0	0	0	1	0	0	0	18275	922	32	2	1265	2	ZNF829	19	37405914	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	1065739	37405914	21723069	200	9864											
CIC	23152	broad.mit.edu	37	chr19	42791373	42791373	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccggctggacagtgagacaGagagtgaccatgatgatgcg	11	6	15	9	2	0	5	0	4	0	2	0	8	0	6	2	2	1	1	2	2	0	0			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:42791373G>C	ENST00000572681.2	+	4	3228	c.3160G>C	c.(3160-3162)Gag>Cag	p.E1054Q	CIC_ENST00000160740.3_Missense_Mutation_p.E145Q|CIC_ENST00000575354.2_Missense_Mutation_p.E145Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	145	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGTGAGACAGAGAGTGACCA	0.662			"Mis, F, S"		oligodendroglioma								7	36					0	0	0	0	C	42791373	G	C	42791373	3	2	51	1	0	0	0	0	1	0	0	0	3453	943	33	2	443	2	CIC	19	42791373	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	5385459	42791373	16337610	201	9865											
RASIP1	54922	broad.mit.edu	37	chr19	49232825	49232825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacacgtgctgctctcgcGtcatcacatacaccacaaag	13	7	6	15	3	3	0	2	0	1	0	4	0	3	0	1	0	4	2	1	0	3	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:49232825G>A	ENST00000222145.4	-	5	1406	c.1202C>T	c.(1201-1203)aCg>aTg	p.T401M	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	401					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CTGCTCTCGCGTCATCACATA	0.557													3	15					0	0	0	0	A	49232825	G	A	49232825	3	1	51	1	0	0	0	0	1	0	0	0	13160	1145	40	1	1721	1	RASIP1	19	49232825	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	6441452	49232825	9896158	202	9866											
ZNF613	79898	broad.mit.edu	37	chr19	52448568	52448568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattaaccaccagagaattCacacaggagagaaaccctat	17	7	6	11	0	2	2	2	0	0	2	2	5	2	3	3	1	2	0	3	1	4	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:52448568C>G	ENST00000293471.6	+	6	2111	c.1432C>G	c.(1432-1434)Cac>Gac	p.H478D	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.H442D	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CCAGAGAATTCACACAGGAGA	0.448													23	49					0	0	0	0	G	52448568	C	G	52448568	3	3	51	1	0	0	0	0	1	0	0	0	18133	826	29	2	1446	2	ZNF613	19	52448568	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	3215743	52448568	6680415	203	9867											
CSRP2BP	57325	broad.mit.edu	37	chr20	18143304	18143304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagcccaggtatactccCgtgagcatctacgaggaaaa	15	6	10	10	2	1	2	0	1	1	1	2	4	2	3	2	2	4	2	2	2	6	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr20:18143304C>T	ENST00000278816.2	+	7	2036	c.1386C>T	c.(1384-1386)ccC>ccT	p.P462P	CSRP2BP_ENST00000377681.2_Silent_p.P461P|CSRP2BP_ENST00000435364.2_Silent_p.P462P|CSRP2BP_ENST00000489634.2_Silent_p.P334P			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	462					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GGTATACTCCCGTGAGCATCT	0.512													15	87					0	0	0	0	T	18143304	C	T	18143304	2	4	51	1	0	0	0	0	0	0	0	1	4000	639	23	1		1	CSRP2BP	20	18143304	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08		18143304	44882216	204	9868											
RBM12	10137	broad.mit.edu	37	chr20	34242341	34242341	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacactgacatacagatcatCagggttgatggggagtggct	11	9	13	8	0	2	3	2	2	0	1	2	4	2	4	0	4	1	2	0	4	1	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr20:34242341C>G	ENST00000374114.3	-	3	1167	c.904G>C	c.(904-906)Gat>Cat	p.D302H	CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.D302H|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.D302H|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	302						nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TACAGATCATCAGGGTTGATG	0.433													33	74					0	0	0	0	G	34242341	C	G	34242341	3	3	51	1	0	0	0	0	1	0	0	0	13195	826	29	2	1898	2	RBM12	20	34242341	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	16099037	34242341	28783179	205	9869											
KCNK15	60598	broad.mit.edu	37	chr20	43378877	43378877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttccagagcctgggcgaaCggctgaacgcggtggtgcgg	6	7	17	11	5	0	2	0	1	0	1	1	3	1	2	2	5	4	1	2	5	2	1			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr20:43378877C>T	ENST00000372861.3	+	2	522	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	131						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CCTGGGCGAACGGCTGAACGC	0.692													12	25					0	0	0	0	T	43378877	C	T	43378877	3	4	51	1	0	0	0	0	1	0	0	0	8115	527	19	1	397	1	KCNK15	20	43378877	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	9136536	43378877	19646643	206	9870											
MATN4	8785	broad.mit.edu	37	chr20	43933166	43933166	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggcgtactggattgcCagtcccgtcatggtgccttg	5	13	12	11	2	2	0	2	0	0	0	3	1	3	1	3	3	3	1	3	3	1	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr20:43933166C>G	ENST00000537548.1	-	4	589	c.345G>C	c.(343-345)ctG>ctC	p.L115L	MATN4_ENST00000372754.1_Silent_p.L115L|MATN4_ENST00000353917.5_Silent_p.L115L|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000360607.5_Silent_p.L115L|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Silent_p.L115L|MATN4_ENST00000372756.1_Silent_p.L115L			O95460	MATN4_HUMAN	matrilin 4	115	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACTGGATTGCCAGTCCCGTCA	0.682													10	23					0	0	0	0	G	43933166	C	G	43933166	2	3	51	1	0	0	0	0	0	0	0	1	9405	581	21	4		4	MATN4	20	43933166	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	554289	43933166	19092354	207	9871											
BAGE2	85319	broad.mit.edu	37	chr21	11038916	11038916	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaggtgttggggaggaaGacacatctgccttgcttatg	11	10	14	6	0	1	2	0	0	1	2	1	4	1	4	1	4	2	2	1	4	4	3			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr21:11038916G>C	ENST00000470054.1	-	0	1287									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGGGAGGAAGACACATCTGC	0.428													7	423					0	0	0	0	C	11038916	G	C	11038916	1	2	51	0	1	0	0	0	0	0	0	0	1296	957	33	2		2	BAGE2	21	11038916	RNA	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08		11038916	37090979	208	9872											
ZNF280A	129025	broad.mit.edu	37	chr22	22868977	22868977	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggtcttcccagctgtcgttCctctgcttctcaaattccaa	6	15	6	14	1	3	0	1	0	3	0	8	0	6	0	3	1	2	3	3	1	2	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr22:22868977C>T	ENST00000302097.3	-	2	1230	c.978G>A	c.(976-978)agG>agA	p.R326R		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGCTGTCGTTCCTCTGCTTCT	0.463													62	127					0	0	0	0	T	22868977	C	T	22868977	2	4	51	1	0	0	0	0	0	0	0	1	17909	854	30	2		2	ZNF280A	22	22868977	Silent	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08		22868977	28435589	209	9873											
CRYBB1	1414	broad.mit.edu	37	chr22	26995607	26995607	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaggaggtactggtacccGcggtagccaggatactgata	10	9	13	9	2	1	1	0	1	1	0	1	3	1	3	2	5	4	3	2	5	6	6			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr22:26995607G>A	ENST00000215939.2	-	6	736	c.606C>T	c.(604-606)cgC>cgT	p.R202R		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	202	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						ACTGGTACCCGCGGTAGCCAG	0.597													18	50					0	0	0	0	A	26995607	G	A	26995607	2	1	51	1	0	0	0	0	0	0	0	1	3940	1074	38	1		1	CRYBB1	22	26995607	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	4126630	26995607	24308959	210	9874											
MFNG	4242	broad.mit.edu	37	chr22	37882050	37882050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttcactgcaatgaagaCatcgtgtagctgtagcttag	10	12	10	9	2	2	2	1	1	1	1	3	2	2	2	0	0	3	5	0	0	5	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr22:37882050C>T	ENST00000356998.3	-	1	389	c.166G>A	c.(166-168)Gtc>Atc	p.V56I	MFNG_ENST00000416983.3_Missense_Mutation_p.V56I	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	56					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					GCAATGAAGACATCGTGTAGC	0.622													19	63					0	0	0	0	T	37882050	C	T	37882050	3	4	51	1	0	0	0	0	1	0	0	0	9594	478	17	4	838	4	MFNG	22	37882050	Missense_Mutation	SNP	C	TCGA-BB-A5HU-01A-11D-A28R-08	10886443	37882050	13422516	211	9875											
ATF4	468	broad.mit.edu	37	chr22	39917519	39917519	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcccccttcgaccagtcGggtttgggggctgaagaaag	8	9	14	10	2	0	2	0	1	0	1	3	3	1	2	3	3	0	2	3	3	2	2			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr22:39917519G>C	ENST00000337304.2	+	1	951	c.69G>C	c.(67-69)tcG>tcC	p.S23S	ATF4_ENST00000404241.2_Silent_p.S23S|ATF4_ENST00000396680.1_Silent_p.S23S	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	23					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					TCGACCAGTCGGGTTTGGGGG	0.552													18	137					0	0	0	0	C	39917519	G	C	39917519	2	2	51	1	0	0	0	0	0	0	0	1	1086	1103	39	3		3	ATF4	22	39917519	Silent	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	2035469	39917519	11387047	212	9876											
NCAPH2	29781	broad.mit.edu	37	chr22	50955877	50955877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatacctctactcactcGtctaccaggcccttgatttc	8	13	6	14	1	3	1	1	1	2	0	5	2	3	2	3	2	3	0	3	2	4	5			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr22:50955877G>A	ENST00000395701.3	+	3	326	c.232G>A	c.(232-234)Gtc>Atc	p.V78I	NCAPH2_ENST00000395698.3_Missense_Mutation_p.V78I|NCAPH2_ENST00000299821.11_Missense_Mutation_p.V78I|NCAPH2_ENST00000420993.2_Missense_Mutation_p.V78I			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	78					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CTACTCACTCGTCTACCAGGC	0.607													37	207					0	0	0	0	A	50955877	G	A	50955877	3	1	51	1	0	0	0	0	1	0	0	0	10280	1145	40	1	242	1	NCAPH2	22	50955877	Missense_Mutation	SNP	G	TCGA-BB-A5HU-01A-11D-A28R-08	11038358	50955877	348689	213	9877											
CXorf48	54967	broad.mit.edu	37	chrX	134292163	134292163	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgggcttcacagaagtTgccttgatgtttgagatgcc	8	12	13	8	1	1	3	1	2	0	2	1	5	1	4	2	2	2	3	2	2	1	4			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chrX:134292163T>C	ENST00000344129.2	-	4	724	c.498A>G	c.(496-498)gcA>gcG	p.A166A	CXorf48_ENST00000276241.6_Silent_p.A166A	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	166										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TCACAGAAGTTGCCTTGATGT	0.418													15	32					0	0	0	0	C	134292163	T	C	134292163	2	2	51	1	0	0	0	0	0	0	0	1	4143	1799	63	5		5	CXorf48	23	134292163	Silent	SNP	T	TCGA-BB-A5HU-01A-11D-A28R-08		134292163	20978397	214	9878											
OR4F5	79501	broad.mit.edu	37	chr1	69561	69561	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccagttggcgtttgccgtGcacttactcttctgtggtcc	4	14	11	12	2	2	0	0	0	2	0	3	0	3	0	3	2	4	3	3	2	1	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:69561G>A	ENST00000335137.3	+	1	471	c.471G>A	c.(469-471)gtG>gtA	p.V157V		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGTTTGCCGTGCACTTACTCT	0.458													144	43					0	0	0	0	A	69561	G	A	69561	2	1	52	1	0	0	0	0	0	0	0	1	11136	1306	46	4		4	OR4F5	1	69561	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08		69561	249181060	1	9879											
PRAMEF2	65122	broad.mit.edu	37	chr1	12918969	12918969	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggagctgcccagggtgctCtatctcccactcttcaggga	7	9	12	13	0	4	0	1	0	3	0	5	3	4	2	2	3	3	2	2	3	1	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:12918969C>G	ENST00000240189.2	+	2	192	c.105C>G	c.(103-105)ctC>ctG	p.L35L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	35										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGGTGCTCTATCTCCCAC	0.627													83	57					0	0	0	0	G	12918969	C	G	12918969	2	3	52	1	0	0	0	0	0	0	0	1	12512	900	32	2		2	PRAMEF2	1	12918969	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	12849408	12918969	236331652	2	9880											
SPEN	23013	broad.mit.edu	37	chr1	16256092	16256092	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaaacagctgcaggtattAgatgatcaaggaccagagag	15	7	11	8	0	2	3	2	1	0	2	2	5	2	4	1	2	3	3	1	2	4	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:16256092A>T	ENST00000375759.3	+	11	3561	c.3357A>T	c.(3355-3357)ttA>ttT	p.L1119F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1119					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCAGGTATTAGATGATCAAG	0.428													20	29					0	0	0	0	T	16256092	A	T	16256092	3	4	52	1	0	0	0	0	1	0	0	0	15128	417	15	5	3399	5	SPEN	1	16256092	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	3337123	16256092	232994529	3	9881											
CATSPER4	378807	broad.mit.edu	37	chr1	26528988	26528989	+	Frame_Shift_Del	DEL	CT	CT	-																															cttggtttgcaggttcatgaCtctagctcacaaatactcct																										TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:26528988_26528989delCT	ENST00000456354.2	+	10	1441_1442	c.1374_1375delCT	c.(1372-1377)gactfs	p.DS458fs		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	458					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTTCATGACTCTAGCTCACA	0.554													8	8	---	---	---	---					-	26528989	CT	-	26528988	7	5	52	1	0	1	0	1	0	0	0	0	2715	564	20	0	1412	0	CATSPER4	1	26528988	Frame_Shift_Del	DEL	CT	TCGA-BB-A5HY-01A-11D-A28R-08	10272896	26528988	222721633	4	9882											
AHDC1	27245	broad.mit.edu	37	chr1	27878171	27878171	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcggtgcaggcgggcggctCagtcggagcccaccacagtc	6	4	17	14	4	1	0	1	0	0	0	3	1	1	1	2	6	2	2	2	6	0	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:27878171C>T	ENST00000374011.2	-	6	1424	c.456G>A	c.(454-456)ctG>ctA	p.L152L	AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Silent_p.L152L	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	152	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCGGGCGGCTCAGTCGGAGCC	0.632													43	104					0	0	0	0	T	27878171	C	T	27878171	2	4	52	1	0	0	0	0	0	0	0	1	412	813	29	2		2	AHDC1	1	27878171	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	1349183	27878171	221372450	5	9883											
ZCCHC11	23318	broad.mit.edu	37	chr1	52897049	52897049	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggttgggatcctggctgAgatgaaggctgagtaatagc	10	11	15	5	0	0	3	0	3	0	1	1	5	1	4	1	4	1	4	1	4	4	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:52897049A>C	ENST00000371544.3	-	28	4606	c.4344T>G	c.(4342-4344)tcT>tcG	p.S1448S	ZCCHC11_ENST00000257177.4_Silent_p.S1449S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1448	Gln-rich.|Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATCCTGGCTGAGATGAAGGCT	0.512													33	30					0	0	0	0	C	52897049	A	C	52897049	2	2	52	1	0	0	0	0	0	0	0	1	17675	291	11	5		5	ZCCHC11	1	52897049	Silent	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	25018878	52897049	196353572	6	9884											
LCE3E	353145	broad.mit.edu	37	chr1	152538502	152538502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacctctggcgccggcatcgGtggtggcgcctgtggtggtt	2	10	18	11	4	1	0	0	0	1	0	2	1	1	0	3	7	0	2	3	7	0	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:152538502G>T	ENST00000368789.1	-	2	238	c.183C>A	c.(181-183)caC>caA	p.H61Q		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	61					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		GCCGGCATCGGTGGTGGCGCC	0.677													4	162					0.150653	0.152703	1	0	T	152538502	G	T	152538502	3	4	52	1	0	0	0	0	1	0	0	0	8726	1252	44	4	99	4	LCE3E	1	152538502	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	99641453	152538502	96712119	7	9885											
FMO3	2328	broad.mit.edu	37	chr1	171083484	171083484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgacctccagtcccgctggGcagcacaagtaataaagggt	11	8	11	11	1	0	1	0	1	0	0	2	1	2	1	3	2	1	4	3	2	4	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:171083484G>A	ENST00000367755.4	+	7	1276	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T	FMO3_ENST00000542847.1_Missense_Mutation_p.A369T|FMO3_ENST00000538429.1_Missense_Mutation_p.A326T|FMO3_ENST00000392085.2_Missense_Mutation_p.A389T	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	389					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCCCGCTGGGCAGCACAAGT	0.453													7	36					0	0	0	0	A	171083484	G	A	171083484	3	1	52	1	0	0	0	0	1	0	0	0	6001	1203	42	4	1187	4	FMO3	1	171083484	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	18544982	171083484	78167137	8	9886											
PAPPA2	60676	broad.mit.edu	37	chr1	176526263	176526263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatacttctctgggaggCgggagcggctgctgctgcgt	4	12	15	10	3	2	0	0	0	2	0	3	2	2	2	0	4	5	3	0	4	2	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:176526263C>T	ENST00000367662.3	+	2	1969	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R269W	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	269					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCTGGGAGGCGGGAGCGGCT	0.577													32	34					0	0	0	0	T	176526263	C	T	176526263	3	4	52	1	0	0	0	0	1	0	0	0	11504	759	27	1	807	1	PAPPA2	1	176526263	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	5442779	176526263	72724358	9	9887											
MR1	3140	broad.mit.edu	37	chr1	181021581	181021581	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattgagcttgatcctcagaGcagcaacctttactcctgtc	10	12	7	12	0	1	3	1	2	0	1	4	3	3	3	3	0	5	3	3	0	3	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:181021581G>C	ENST00000367580.5	+	4	820	c.815G>C	c.(814-816)aGc>aCc	p.S272T	MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.S227T|MR1_ENST00000434571.2_Intron|MR1_ENST00000282990.6_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	272	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GATCCTCAGAGCAGCAACCTT	0.522													14	66					0	0	0	0	C	181021581	G	C	181021581	3	2	52	1	0	0	0	0	1	0	0	0	9822	971	34	4	829	4	MR1	1	181021581	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	4495318	181021581	68229040	10	9888											
ASPM	259266	broad.mit.edu	37	chr1	197111671	197111671	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctttcttttccgagcaaCtgaagctgttgtcgaagagg	8	13	11	9	2	2	2	0	1	2	1	4	4	3	2	1	1	3	4	1	1	3	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:197111671C>G	ENST00000367409.4	-	3	1967	c.1711G>C	c.(1711-1713)Gtt>Ctt	p.V571L	ASPM_ENST00000294732.7_Missense_Mutation_p.V571L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	571					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCCGAGCAACTGAAGCTGTT	0.348													46	56					0	0	0	0	G	197111671	C	G	197111671	3	3	52	1	0	0	0	0	1	0	0	0	1060	565	20	4	8826	4	ASPM	1	197111671	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	16090090	197111671	52138950	11	9889											
DDX59	83479	broad.mit.edu	37	chr1	200613413	200613413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattacttttatcatgttttCtgataatatccataagatta	14	19	3	5	0	2	2	1	1	1	1	3	2	3	2	1	0	1	1	1	0	7	9			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:200613413C>A	ENST00000331314.6	-	8	2042	c.1829G>T	c.(1828-1830)aGa>aTa	p.R610I	DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	610						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ATCATGTTTTCTGATAATATC	0.308													13	36					2.27111e-07	2.3747e-07	1	0	A	200613413	C	A	200613413	3	1	52	1	0	0	0	0	1	0	0	0	4408	913	32	2	34	2	DDX59	1	200613413	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	3501742	200613413	48637208	12	9890											
HHIPL2	79802	broad.mit.edu	37	chr1	222717278	222717278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaccatgcccaggtggCggttgagatagtcgttcctc	6	9	14	12	2	0	1	0	1	0	1	3	2	1	1	4	4	1	2	4	4	1	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:222717278C>A	ENST00000343410.6	-	2	633	c.575G>T	c.(574-576)cGc>cTc	p.R192L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	192					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R192L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCCCAGGTGGCGGTTGAGATA	0.602													25	85					6.21321e-17	6.88304e-17	1	0	A	222717278	C	A	222717278	3	1	52	1	0	0	0	0	1	0	0	0	7144	768	27	3	1631	3	HHIPL2	1	222717278	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	22103865	222717278	26533343	13	9891											
C1orf65	164127	broad.mit.edu	37	chr1	223567417	223567417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtgccctcgcaaaagttCaagaggcactcagcctgcgt	9	9	10	13	2	3	1	2	0	1	1	4	1	3	1	2	1	3	3	2	1	3	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:223567417C>T	ENST00000366875.3	+	1	703	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	200										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CGCAAAAGTTCAAGAGGCACT	0.617													76	83					0	0	0	0	T	223567417	C	T	223567417	2	4	52	1	0	0	0	0	0	0	0	1	2075	825	29	2		2	C1orf65	1	223567417	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	850139	223567417	25683204	14	9892											
RYR2	6262	broad.mit.edu	37	chr1	237837428	237837428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcctctgctggtgccctatGatacactgacagccaaagag	11	9	9	12	0	1	3	0	2	1	1	2	3	2	3	3	1	4	1	3	1	3	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:237837428G>C	ENST00000366574.2	+	59	8940	c.8623G>C	c.(8623-8625)Gat>Cat	p.D2875H	RYR2_ENST00000542537.1_Missense_Mutation_p.D2859H|RYR2_ENST00000360064.6_Missense_Mutation_p.D2873H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2875	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTGCCCTATGATACACTGAC	0.418													11	62					0	0	0	0	C	237837428	G	C	237837428	3	2	52	1	0	0	0	0	1	0	0	0	13854	1290	45	2	8857	2	RYR2	1	237837428	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	14270011	237837428	11413193	15	9893											
OR6F1	343169	broad.mit.edu	37	chr1	247875250	247875250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtggacagctttgatcaGatccaaggcatctttgatag	11	11	11	8	1	2	3	1	2	1	1	3	5	3	4	1	2	1	2	1	2	2	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:247875250G>T	ENST00000302084.2	-	1	855	c.808C>A	c.(808-810)Ctg>Atg	p.L270M	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCTTTGATCAGATCCAAGGCA	0.488													47	68					1.15181e-12	1.25269e-12	1	0	T	247875250	G	T	247875250	3	4	52	1	0	0	0	0	1	0	0	0	11272	933	33	2	122	2	OR6F1	1	247875250	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	10037822	247875250	1375371	16	9894											
SNTG2	54221	broad.mit.edu	37	chr2	1241661	1241661	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctctctccctccccaggTggaatgcgttcgaggtgctc	5	10	11	15	2	1	0	0	0	1	0	6	2	3	1	3	3	3	3	3	3	1	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:1241661T>A	ENST00000308624.5	+	10	850	c.719_splice	c.e10-1	p.W241_splice	SNTG2_ENST00000407292.1_Splice_Site_p.W114_splice	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	241					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCTCCCCAGGTGGAATGCGTT	0.667													5	9					0	0	0	0	A	1241661	T	A	1241661	5	1	52	1	0	0	0	0	0	0	1	0	14963	1710	59	5	759	5	SNTG2	2	1241661	Splice_Site	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08		1241661	241957712	17	9895											
PUM2	23369	broad.mit.edu	37	chr2	20494150	20494150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctacctgttgctgtccaGgctgagcttgtgatgctgct	4	13	13	11	0	0	2	0	2	0	0	1	2	1	2	3	2	5	6	3	2	1	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:20494150G>C	ENST00000361078.2	-	8	1161	c.1139C>G	c.(1138-1140)cCt>cGt	p.P380R	PUM2_ENST00000338086.5_Missense_Mutation_p.P380R|PUM2_ENST00000319801.5_Missense_Mutation_p.P380R|PUM2_ENST00000403432.1_Missense_Mutation_p.P380R|PUM2_ENST00000536417.1_Missense_Mutation_p.P324R			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	380	Ala-rich.|Gln-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCTGTCCAGGCTGAGCTTG	0.453													25	87					0	0	0	0	C	20494150	G	C	20494150	3	2	52	1	0	0	0	0	1	0	0	0	12908	1000	35	4	2107	4	PUM2	2	20494150	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	19252489	20494150	222705223	18	9896											
POU3F3	5455	broad.mit.edu	37	chr2	105472255	105472255	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgctgagccacgcgcaccAgtgggtcacagccctgcccc	7	6	11	17	2	1	1	1	1	0	0	1	1	1	1	5	1	4	2	5	1	1	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:105472255A>C	ENST00000361360.2	+	1	287	c.287A>C	c.(286-288)cAg>cCg	p.Q96P	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	96	Ala-rich.|Gly-rich.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CACGCGCACCAGTGGGTCACA	0.746													7	14					0	0	0	0	C	105472255	A	C	105472255	3	2	52	1	0	0	0	0	1	0	0	0	12347	188	7	5	289	5	POU3F3	2	105472255	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	84978105	105472255	137727118	19	9897											
LRP1B	53353	broad.mit.edu	37	chr2	141625742	141625742	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagccccagttttcatGtctttatagatggtttttct	7	17	8	9	0	3	1	1	0	2	1	3	1	3	1	3	2	1	2	3	2	3	7			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:141625742G>A	ENST00000389484.3	-	26	5231	c.4260C>T	c.(4258-4260)gaC>gaT	p.D1420D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1420					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTTTTCATGTCTTTATAGA	0.403										TSP Lung(27;0.18)			21	38					0	0	0	0	A	141625742	G	A	141625742	2	1	52	1	0	0	0	0	0	0	0	1	9019	1368	48	4		4	LRP1B	2	141625742	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	36153487	141625742	101573631	20	9898											
XIRP2	129446	broad.mit.edu	37	chr2	168103464	168103464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagccaggctgtaaatcaGaaaacagtgacgaaaacaga	18	5	9	9	1	2	3	2	1	0	2	2	4	2	3	1	1	3	2	1	1	6	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:168103464G>A	ENST00000409195.1	+	9	5651	c.5562G>A	c.(5560-5562)caG>caA	p.Q1854Q	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Q1632Q|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Q1854Q|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1679					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						CTGTAAATCAGAAAACAGTGA	0.388													63	27					0	0	0	0	A	168103464	G	A	168103464	2	1	52	1	0	0	0	0	0	0	0	1	17526	933	33	2		2	XIRP2	2	168103464	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	26477722	168103464	75095909	21	9899											
TTN	7273	broad.mit.edu	37	chr2	179395596	179395596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagatttcactcgttttggaGacttaactgcttctggggat	8	15	11	7	1	2	2	1	0	1	2	3	5	2	3	0	3	2	2	0	3	1	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:179395596G>A	ENST00000589042.1	-	358	105970	c.105746C>T	c.(105745-105747)tCt>tTt	p.S35249F	TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26309F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S26184F|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S33608F|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S32681F|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26376F|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33608							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S32681C(1)|p.S26184C(1)|p.S26309C(1)|p.S32679C(1)|p.S26376C(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)			TCGTTTTGGAGACTTAACTGC	0.493													108	26					0	0	0	0	A	179395596	G	A	179395596	3	1	52	1	0	0	0	0	1	0	0	0	16831	942	33	2	2253	2	TTN	2	179395596	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	11292132	179395596	63803777	22	9900											
TTN	7273	broad.mit.edu	37	chr2	179417911	179417911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatatattttcctgtatCattgcgagtaacttgaggaa	13	14	9	5	1	1	2	1	1	0	1	2	5	2	3	1	1	2	2	1	1	6	8			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:179417911C>A	ENST00000589042.1	-	335	89940	c.89716G>T	c.(89716-89718)Gat>Tat	p.D29906Y	TTN_ENST00000359218.5_Missense_Mutation_p.D20966Y|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D20841Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D28265Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27338Y|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D21033Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28265	Fibronectin type-III 118.						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)			TTTCCTGTATCATTGCGAGTA	0.403													25	102					3.28513e-13	3.58596e-13	1	0	A	179417911	C	A	179417911	3	1	52	1	0	0	0	0	1	0	0	0	16831	826	29	2	18375	2	TTN	2	179417911	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	22315	179417911	63781462	23	9901											
TTN	7273	broad.mit.edu	37	chr2	179529425	179529425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgagaggaaccacaagcGttttcttttcagggacaatt	11	13	9	8	1	3	1	1	1	2	1	3	4	3	3	1	2	2	1	1	2	3	6			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:179529425G>A	ENST00000589042.1	-	167	36382	c.36158C>T	c.(36157-36159)aCg>aTg	p.T12053M	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10201	Ig-like 80.						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)			AACCACAAGCGTTTTCTTTTC	0.378													61	11					0	0	0	0	A	179529425	G	A	179529425	3	1	52	1	0	0	0	0	1	0	0	0	16831	1160	40	1		1	TTN	2	179529425	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	111514	179529425	63669948	24	9902											
ITGA4	3676	broad.mit.edu	37	chr2	182374418	182374418	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcctcaccccaattcagAttgaagctgcttaccacctt	11	11	4	15	0	2	2	2	1	0	1	3	2	3	2	5	0	3	2	5	0	3	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:182374418A>G	ENST00000397033.2	+	16	2159	c.1729A>G	c.(1729-1731)Att>Gtt	p.I577V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	577					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCCAATTCAGATTGAAGCTGC	0.388													16	76					0	0	0	0	G	182374418	A	G	182374418	3	3	52	1	0	0	0	0	1	0	0	0	7931	333	12	5	1791	5	ITGA4	2	182374418	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	2844993	182374418	60824955	25	9903											
COL3A1	1281	broad.mit.edu	37	chr2	189876410	189876410	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcgaacacgcaaggctgtGagactacctattgtagatat	13	11	9	8	2	0	2	0	1	0	2	1	4	0	2	1	1	2	3	1	1	7	6			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:189876410G>A	ENST00000304636.3	+	51	4481	c.4311G>A	c.(4309-4311)gtG>gtA	p.V1437V	COL3A1_ENST00000317840.5_Silent_p.V1134V	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1437	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GCAAGGCTGTGAGACTACCTA	0.393													28	25					0	0	0	0	A	189876410	G	A	189876410	2	1	52	1	0	0	0	0	0	0	0	1	3718	1277	45	2		2	COL3A1	2	189876410	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	7501992	189876410	53322963	26	9904											
ERBB4	2066	broad.mit.edu	37	chr2	212248564	212248564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagggttgtcaaacgcttTcttggccttctctggcattg	5	15	11	10	1	4	0	2	0	2	0	5	0	4	0	1	3	1	3	1	3	1	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:212248564T>C	ENST00000342788.4	-	28	4013	c.3703A>G	c.(3703-3705)Aaa>Gaa	p.K1235E	ERBB4_ENST00000402597.1_Missense_Mutation_p.K1225E|ERBB4_ENST00000436443.1_Missense_Mutation_p.K1219E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1235					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCAAACGCTTTCTTGGCCTTC	0.488										TSP Lung(8;0.080)			65	47					0	0	0	0	C	212248564	T	C	212248564	3	2	52	1	0	0	0	0	1	0	0	0	5247	1792	62	5	227	5	ERBB4	2	212248564	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	22372154	212248564	30950809	27	9905											
XRCC5	7520	broad.mit.edu	37	chr2	217001937	217001937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcttttcctcatatcaagCataactatgaggtaaaaccc	13	12	6	10	0	2	1	2	1	0	0	3	1	3	1	2	2	3	3	2	2	6	6			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:217001937C>T	ENST00000392133.3	+	13	1701	c.1240C>T	c.(1240-1242)Cat>Tat	p.H414Y	XRCC5_ENST00000392132.2_Missense_Mutation_p.H414Y|XRCC5_ENST00000471649.1_3'UTR			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	414	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TCATATCAAGCATAACTATGA	0.368								Non-homologous end-joining					6	34					0	0	0	0	T	217001937	C	T	217001937	3	4	52	1	0	0	0	0	1	0	0	0	17552	710	25	4	1282	4	XRCC5	2	217001937	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	4753373	217001937	26197436	28	9906											
DOCK10	55619	broad.mit.edu	37	chr2	225670843	225670843	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagaagatctcaagtacCtgctatggaatttaaaacat	15	12	6	8	0	2	2	2	0	2	2	4	3	2	3	1	1	3	2	1	1	7	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:225670843C>A	ENST00000409592.3	-	34	3909	c.3796_splice	c.e34+1	p.A1266_splice	DOCK10_ENST00000258390.7_Splice_Site_p.A1272_splice			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1272							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCTCAAGTACCTGCTATGGAA	0.338													4	8					0.150653	0.152703	1	0	A	225670843	C	A	225670843	5	1	52	1	0	0	0	0	0	0	1	0	4721	695	24	4	2838	4	DOCK10	2	225670843	Splice_Site	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	8668906	225670843	17528530	29	9907											
COL4A3	1285	broad.mit.edu	37	chr2	228124545	228124545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataccaggaaaagggagatGaaggcactccaggcccacca	15	3	11	12	0	0	2	0	1	0	1	1	4	1	3	4	4	1	1	4	4	4	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:228124545G>A	ENST00000396578.3	+	19	1228	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	356	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAAGGGAGATGAAGGCACTCC	0.433													26	60					0	0	0	0	A	228124545	G	A	228124545	3	1	52	1	0	0	0	0	1	0	0	0	3721	1291	45	2	1140	2	COL4A3	2	228124545	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	2453702	228124545	15074828	30	9908											
SP100	6672	broad.mit.edu	37	chr2	231380302	231380302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaaagaaggaagaggaaGaagatgaagaggatgaacaa	24	2	14	1	0	0	8	0	2	0	6	0	11	0	11	0	3	1	0	0	3	9	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:231380302G>A	ENST00000264052.5	+	25	2942	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	863	Poly-Glu.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ggaagaggaagaagatgaaga	0.353													11	8					0	0	0	0	A	231380302	G	A	231380302	3	1	52	1	0	0	0	0	1	0	0	0	15048	943	33	2	2685	2	SP100	2	231380302	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	3255757	231380302	11819071	31	9909											
COL6A3	1293	broad.mit.edu	37	chr2	238275630	238275630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccaggcggctgcctgcctCaggcacaaagtggtttaccc	7	8	12	14	1	1	0	1	0	0	0	2	0	2	0	4	4	3	3	4	4	2	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:238275630C>G	ENST00000295550.4	-	11	5652	c.5200G>C	c.(5200-5202)Gag>Cag	p.E1734Q	COL6A3_ENST00000409809.1_Missense_Mutation_p.E1528Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1528Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1534Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1533Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1127Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1734	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCCTGCCTCAGGCACAAAG	0.572													23	34					0	0	0	0	G	238275630	C	G	238275630	3	3	52	1	0	0	0	0	1	0	0	0	3731	835	29	2	4469	2	COL6A3	2	238275630	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	6895328	238275630	4923743	32	9910											
NEU4	129807	broad.mit.edu	37	chr2	242758105	242758105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctacacatgggtatccgcCtgagccagtccccgctggac	7	7	12	15	2	0	1	0	1	0	0	2	2	2	2	5	3	2	3	5	3	2	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:242758105C>G	ENST00000391969.2	+	5	1897	c.1186C>G	c.(1186-1188)Ctg>Gtg	p.L396V	NEU4_ENST00000404257.1_Missense_Mutation_p.L408V|NEU4_ENST00000325935.6_Missense_Mutation_p.L409V|NEU4_ENST00000407683.1_Missense_Mutation_p.L396V|NEU4_ENST00000405370.1_Missense_Mutation_p.L396V	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	396						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGGTATCCGCCTGAGCCAGTC	0.711													8	7					0	0	0	0	G	242758105	C	G	242758105	3	3	52	1	0	0	0	0	1	0	0	0	10414	680	24	4	1239	4	NEU4	2	242758105	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	4482475	242758105	441268	33	9911											
TRIM71	131405	broad.mit.edu	37	chr3	32933123	32933123	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggaagggcgcatcatTgtggcggattccaggaacca	11	6	14	10	2	1	0	1	0	0	0	2	4	2	3	3	5	1	1	3	5	2	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:32933123T>C	ENST00000383763.4	+	4	2490	c.2427T>C	c.(2425-2427)atT>atC	p.I809I		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	809					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCGCATCATTGTGGCGGATT	0.602													92	51					0	0	0	0	C	32933123	T	C	32933123	2	2	52	1	0	0	0	0	0	0	0	1	16639	1800	63	5		5	TRIM71	3	32933123	Silent	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08		32933123	165089307	34	9912											
MST1	4485	broad.mit.edu	37	chr3	49723767	49723767	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacgcgtatttttctggcGtaaatcggtgctgatgcggg	6	13	14	8	5	1	1	0	1	1	0	2	1	1	1	0	3	3	4	0	3	3	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:49723767G>C	ENST00000449682.2	-	8	1356	c.995C>G	c.(994-996)aCg>aGg	p.T332R	MST1_ENST00000545762.1_3'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.T257R	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	318	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTTTTCTGGCGTAAATCGGTG	0.657													6	20					0	0	0	0	C	49723767	G	C	49723767	3	2	52	1	0	0	0	0	1	0	0	0	9960	1145	40	3	1226	3	MST1	3	49723767	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	16790644	49723767	148298663	35	9913											
UBA7	7318	broad.mit.edu	37	chr3	49842758	49842758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcacagctcatagtgcaGaggtgggaaggcagtgtcct	9	10	14	8	0	2	1	2	0	0	1	3	2	3	2	1	3	2	3	1	3	2	2	rs1128278		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:49842758G>A	ENST00000333486.3	-	24	3180	c.3022C>T	c.(3022-3024)Ctg>Ttg	p.L1008L		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	1008					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		tcatagtgcagaggtgggaag	0.597													19	21					0	0	0	0	A	49842758	G	A	49842758	2	1	52	1	0	0	0	0	0	0	0	1	16929	933	33	2		2	UBA7	3	49842758	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	118991	49842758	148179672	36	9914											
IL17RB	55540	broad.mit.edu	37	chr3	53899156	53899156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattcatctgcacaaatacGtggtggtctactttagagag	12	12	10	7	1	3	2	1	0	2	2	3	3	3	2	0	2	3	1	0	2	4	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:53899156G>A	ENST00000288167.3	+	11	1339	c.1330G>A	c.(1330-1332)Gtg>Atg	p.V444M		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	444	SEFIR.			Missing (in Ref. 2; AA sequence).	defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		GCACAAATACGTGGTGGTCTA	0.478													37	24					0	0	0	0	A	53899156	G	A	53899156	3	1	52	1	0	0	0	0	1	0	0	0	7693	1145	40	1	1372	1	IL17RB	3	53899156	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	4056398	53899156	144123274	37	9915											
CADPS	8618	broad.mit.edu	37	chr3	62459953	62459953	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactcgaaaatctgttgaTcgactggttttttgcagctt	8	15	11	7	2	1	1	0	1	1	0	3	4	1	2	0	2	2	4	0	2	2	5	rs148854672	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:62459953T>C	ENST00000383710.4	-	24	3721	c.3372A>G	c.(3370-3372)cgA>cgG	p.R1124R	CADPS_ENST00000283269.9_Silent_p.R1085R|CADPS_ENST00000357948.3_Silent_p.R1045R	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1124	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AATCTGTTGATCGACTGGTTT	0.413													6	89					0	0	0	0	C	62459953	T	C	62459953	2	2	52	1	0	0	0	0	0	0	0	1	2595	1422	50	5		5	CADPS	3	62459953	Silent	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	8560797	62459953	135562477	38	9916											
MAGI1	9223	broad.mit.edu	37	chr3	65425585	65425585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgctgctgttg	0	16	14	11	0	0	0	0	0	0	0	0	0	0	0	0	0	11	13	0	0	0	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:65425585C>T	ENST00000330909.8	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000483466.1_Silent_p.Q413Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	413	Poly-Gln.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	87					0	0	0	0	T	65425585	C	T	65425585	2	4	52	1	0	0	0	0	0	0	0	1	9259	796	28	4		4	MAGI1	3	65425585	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	2965632	65425585	132596845	39	9917											
PDZRN3	23024	broad.mit.edu	37	chr3	73437118	73437118	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctgtaggaagccaatttaCctggagttcaggccttgcaa	11	11	10	9	0	2	0	1	0	1	0	2	2	2	2	3	3	3	3	3	3	5	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:73437118C>A	ENST00000263666.4	-	8	1633		c.e8+1		PDZRN3_ENST00000462146.2_Splice_Site|PDZRN3_ENST00000479530.1_Splice_Site|PDZRN3_ENST00000535920.1_Splice_Site|PDZRN3_ENST00000466780.1_Splice_Site|PDZRN3_ENST00000466348.1_Splice_Site	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3								ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGCCAATTTACCTGGAGTTCA	0.433													99	82					1.13762e-57	1.314e-57	1	0	A	73437118	C	A	73437118	5	1	52	1	0	0	0	0	0	0	1	0	11780	521	18	4	1693	4	PDZRN3	3	73437118	Splice_Site	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	8011533	73437118	124585312	40	9918											
ROBO1	6091	broad.mit.edu	37	chr3	78763559	78763559	+	Frame_Shift_Del	DEL	G	G	-																															atgcctaccttgaacagtcaGagtagcagatgcttcagctt																										TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:78763559delG	ENST00000436010.2	-	6	1913	c.916delC	c.(916-918)tgfs	p.L306fs	ROBO1_ENST00000467549.1_Frame_Shift_Del_p.L306fs|ROBO1_ENST00000464233.1_Frame_Shift_Del_p.L345fs|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.L306fs			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	345	Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGAACAGTCAGAGTAGCAGAT	0.388													19	17	---	---	---	---					-	78763559	G	-	78763559	7	5	52	1	0	1	0	1	0	0	0	0	13598	933	33	0	4031	0	ROBO1	3	78763559	Frame_Shift_Del	DEL	G	TCGA-BB-A5HY-01A-11D-A28R-08	5326441	78763559	119258871	41	9919											
WDR52	55779	broad.mit.edu	37	chr3	113146035	113146035	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactaataatacctaccTgtagtgctttgcaaatcacc	15	11	5	10	0	1	0	1	0	0	0	1	1	1	0	3	0	5	3	3	0	8	6			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:113146035T>G	ENST00000393845.2	-	3	318	c.253_splice	c.e3+1	p.T84_splice	WDR52_ENST00000295868.2_Splice_Site_p.T84_splice|WDR52-AS1_ENST00000498480.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	84										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AATACCTACCTGTAGTGCTTT	0.363													16	74					0	0	0	0	G	113146035	T	G	113146035	5	3	52	1	0	0	0	0	0	0	1	0	17400	1594	55	5	5459	5	WDR52	3	113146035	Splice_Site	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	34382476	113146035	84876395	42	9920											
ZNF80	7634	broad.mit.edu	37	chr3	113955233	113955233	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtatgtcgagtgagggaaTagctgtagtaaaaacctttc	12	13	11	5	1	0	1	0	1	0	0	2	3	0	2	1	1	2	4	1	1	7	6			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:113955233T>G	ENST00000482457.2	-	1	1192	c.689A>C	c.(688-690)tAt>tCt	p.Y230S		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	230						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				AGTGAGGGAATAGCTGTAGTA	0.468													13	77					0	0	0	0	G	113955233	T	G	113955233	3	3	52	1	0	0	0	0	1	0	0	0	18261	1406	49	5	136	5	ZNF80	3	113955233	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	809198	113955233	84067197	43	9921											
GOLGB1	2804	broad.mit.edu	37	chr3	121414722	121414724	+	In_Frame_Del	DEL	GAA	GAA	-																															gagtttgtctctttcttcttGaagaagagctaaccttccta																										TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:121414722_121414724delGAA	ENST00000393667.3	-	13	4756_4758	c.4646_4648delTTC	c.(4645-4650)caa>c	p.LQ1549del	GOLGB1_ENST00000340645.5_In_Frame_Del_p.LQ1544del	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1544					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTTCTTCTTGAAGAAGAGCTAA	0.414													25	123	---	---	---	---					-	121414724	GAA	-	121414722	7	5	52	1	0	1	0	1	0	0	0	0	6613	1299	45	0	5186	0	GOLGB1	3	121414722	In_Frame_Del	DEL	GAA	TCGA-BB-A5HY-01A-11D-A28R-08	7459489	121414722	76607708	44	9922											
PIK3R4	30849	broad.mit.edu	37	chr3	130463461	130463461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcccaccatcaacaaaaCgttcaggagcaatatagcaa	18	6	5	12	1	2	0	2	0	0	0	3	1	3	1	2	1	4	3	2	1	7	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:130463461C>T	ENST00000356763.3	-	2	1159	c.602G>A	c.(601-603)cGt>cAt	p.R201H		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	201	Protein kinase.				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						ATCAACAAAACGTTCAGGAGC	0.418													14	46					0	0	0	0	T	130463461	C	T	130463461	3	4	52	1	0	0	0	0	1	0	0	0	11993	536	19	1	3550	1	PIK3R4	3	130463461	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	9048739	130463461	67558969	45	9923											
NPHP3	27031	broad.mit.edu	37	chr3	132435637	132435637	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagggtccttccacatctaTagaactatgggcaaactcag	14	9	8	10	0	2	1	1	0	1	1	4	1	4	1	2	2	2	1	2	2	6	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:132435637T>C	ENST00000326682.8	-	4	863	c.787A>G	c.(787-789)Ata>Gta	p.I263V	NPHP3_ENST00000337331.5_Missense_Mutation_p.I263V|NPHP3_ENST00000476742.1_5'UTR			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	263					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCACATCTATAGAACTATGG	0.433													25	37					0	0	0	0	C	132435637	T	C	132435637	3	2	52	1	0	0	0	0	1	0	0	0	10650	1406	49	5	3301	5	NPHP3	3	132435637	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	1972176	132435637	65586793	46	9924											
PRR23B	389151	broad.mit.edu	37	chr3	138739168	138739168	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgagtcgtgctgcgctccTgagcgttcgtcgacggagct	5	9	15	12	7	0	1	0	1	0	0	4	5	1	2	1	1	4	4	1	1	0	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:138739168T>C	ENST00000329447.5	-	1	600	c.336A>G	c.(334-336)tcA>tcG	p.S112S	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	112										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGCGCTCCTGAGCGTTCGT	0.632													17	126					0	0	0	0	C	138739168	T	C	138739168	2	2	52	1	0	0	0	0	0	0	0	1	12675	1567	55	5		5	PRR23B	3	138739168	Silent	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	6303531	138739168	59283262	47	9925											
MME	4311	broad.mit.edu	37	chr3	154878231	154878231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttactcttcaggaagaaatCagataggtaaggtgtattct	13	14	9	5	0	4	2	2	0	2	2	4	3	4	3	0	3	1	2	0	3	6	7			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:154878231C>G	ENST00000460393.1	+	17	1774	c.1654C>G	c.(1654-1656)Cag>Gag	p.Q552E	MME_ENST00000360490.2_Missense_Mutation_p.Q552E|MME_ENST00000462745.1_Missense_Mutation_p.Q552E|MME_ENST00000492661.1_Missense_Mutation_p.Q552E|MME_ENST00000493237.1_Missense_Mutation_p.Q552E|MME-AS1_ENST00000484721.1_RNA	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	552					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AGGAAGAAATCAGATAGGTAA	0.333													51	236					0	0	0	0	G	154878231	C	G	154878231	3	3	52	1	0	0	0	0	1	0	0	0	9714	827	29	2	1716	2	MME	3	154878231	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	16139063	154878231	43144199	48	9926											
SHOX2	6474	broad.mit.edu	37	chr3	157815867	157815867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctttcagtctgagatcggcGatgctggagttcttgctggt	5	14	14	8	2	3	1	1	1	2	1	4	4	3	2	0	3	2	4	0	3	0	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:157815867G>A	ENST00000490689.2	-	5	2055	c.522C>T	c.(520-522)atC>atT	p.I174I	SHOX2_ENST00000483851.2_Silent_p.I303I|SHOX2_ENST00000441443.2_Silent_p.I174I|SHOX2_ENST00000425436.3_Silent_p.I315I|SHOX2_ENST00000389589.4_Silent_p.I339I			O60902	SHOX2_HUMAN	short stature homeobox 2	315					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGAGATCGGCGATGCTGGAGT	0.677													206	574					0	0	0	0	A	157815867	G	A	157815867	2	1	52	1	0	0	0	0	0	0	0	1	14377	1048	37	1		1	SHOX2	3	157815867	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	2937636	157815867	40206563	49	9927											
RSRC1	51319	broad.mit.edu	37	chr3	157841762	157841762	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagagttcagaggtctaggtCaaaaagcagaacaagaaggt	17	7	12	5	0	3	4	2	0	1	4	3	4	3	4	0	3	2	2	0	3	7	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:157841762C>G	ENST00000464171.1	+	3	427	c.302C>G	c.(301-303)tCa>tGa	p.S101*	RSRC1_ENST00000480820.1_Nonsense_Mutation_p.S101*|RSRC1_ENST00000312179.6_Nonsense_Mutation_p.S101*|RSRC1_ENST00000295930.3_Nonsense_Mutation_p.S101*|RSRC1_ENST00000475278.2_Nonsense_Mutation_p.S101*	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	133	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AGGTCTAGGTCAAAAAGCAGA	0.383													31	74					0	0	0	0	G	157841762	C	G	157841762	4	3	52	1	0	0	0	0	0	1	0	0	13799	838	29	2	308	2	RSRC1	3	157841762	Nonsense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	25895	157841762	40180668	50	9928											
GOLIM4	27333	broad.mit.edu	37	chr3	167747016	167747016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtctcaccacctcctTcctctccttggattccctgg	6	12	7	16	0	2	0	1	0	2	0	7	2	5	2	6	3	0	0	6	3	1	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:167747016T>C	ENST00000470487.1	-	11	2197	c.1508A>G	c.(1507-1509)gAa>gGa	p.E503G	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E475G	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	503	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCACCTCCTTCCTCTCCTTG	0.373													11	118					0	0	0	0	C	167747016	T	C	167747016	3	2	52	1	0	0	0	0	1	0	0	0	6614	1783	62	5	606	5	GOLIM4	3	167747016	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	9905254	167747016	30275414	51	9929											
SLC7A14	57709	broad.mit.edu	37	chr3	170201150	170201150	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcataaatgaccctcggcatCgggaagagggaccccagcaa	13	4	12	12	2	0	2	0	1	0	1	2	4	0	4	3	3	1	3	3	3	4	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:170201150C>T	ENST00000231706.4	-	6	1383	c.1068G>A	c.(1066-1068)ccG>ccA	p.P356P	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	356						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCCTCGGCATCGGGAAGAGGG	0.542											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	260					0	0	0	0	T	170201150	C	T	170201150	2	4	52	1	0	0	0	0	0	0	0	1	14784	871	31	1		1	SLC7A14	3	170201150	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	2454134	170201150	27821280	52	9930											
LRCH3	84859	broad.mit.edu	37	chr3	197518394	197518394	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggccaaccacgacctgaCggacaccacccgggcgggtg	9	2	14	16	5	0	1	0	1	0	0	0	3	0	2	5	4	2	0	5	4	1	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:197518394C>G	ENST00000438796.2	+	1	289	c.245C>G	c.(244-246)aCg>aGg	p.T82R	LRCH3_ENST00000414675.2_Missense_Mutation_p.T82R|LRCH3_ENST00000441090.2_Missense_Mutation_p.T82R|LRCH3_ENST00000425562.2_Missense_Mutation_p.T82R|LRCH3_ENST00000334859.4_Missense_Mutation_p.T82R			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	82						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CACGACCTGACGGACACCACC	0.766													3	34					0	0	0	0	G	197518394	C	G	197518394	3	3	52	1	0	0	0	0	1	0	0	0	8998	536	19	3	247	3	LRCH3	3	197518394	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	27317244	197518394	504036	53	9931											
LMLN	89782	broad.mit.edu	37	chr3	197707201	197707201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccgtgggtgcagcaatGccgggtctaccgtgggggta	5	9	16	11	3	2	0	0	0	2	0	3	0	2	0	3	4	4	3	3	4	3	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:197707201G>T	ENST00000330198.4	+	6	576	c.554G>T	c.(553-555)tGc>tTc	p.C185F	LMLN_ENST00000420910.2_Missense_Mutation_p.C185F|LMLN_ENST00000482695.1_Missense_Mutation_p.C133F|LMLN_ENST00000332636.5_Missense_Mutation_p.C133F	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	185					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GTGCAGCAATGCCGGGTCTAC	0.478													36	163					2.2871e-25	2.58165e-25	1	0	T	197707201	G	T	197707201	3	4	52	1	0	0	0	0	1	0	0	0	8902	1319	46	4	576	4	LMLN	3	197707201	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	188807	197707201	315229	54	9932											
SLIT2	9353	broad.mit.edu	37	chr4	20597338	20597338	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatgtgactgcacaccaggGtacgtaggtgaacactgcga	12	7	13	9	2	0	3	0	2	0	1	0	4	0	3	1	2	4	3	1	2	3	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:20597338G>T	ENST00000504154.1	+	31	3453	c.3201G>T	c.(3199-3201)ggG>ggT	p.G1067G	SLIT2_ENST00000503823.1_Silent_p.G1059G|SLIT2_ENST00000273739.5_Silent_p.G1080G|SLIT2_ENST00000503837.1_Silent_p.G1063G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1067	EGF-like 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCACACCAGGGTACGTAGGTG	0.453													110	78					7.18566e-60	8.33201e-60	1	0	T	20597338	G	T	20597338	2	4	52	1	0	0	0	0	0	0	0	1	14828	1248	44	4		4	SLIT2	4	20597338	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08		20597338	170556938	55	9933											
POLR2B	5431	broad.mit.edu	37	chr4	57861015	57861015	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctggtggctatttcattAttaatggatcagaaaaggta	13	14	9	5	0	2	1	2	0	0	1	3	2	3	2	1	4	0	2	1	4	6	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:57861015A>G	ENST00000381227.1	+	6	972	c.559A>G	c.(559-561)Att>Gtt	p.I187V	POLR2B_ENST00000431623.2_Missense_Mutation_p.I112V|POLR2B_ENST00000314595.5_Missense_Mutation_p.I187V|POLR2B_ENST00000441246.2_Missense_Mutation_p.I180V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	187					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CTATTTCATTATTAATGGATC	0.284													24	16					0	0	0	0	G	57861015	A	G	57861015	3	3	52	1	0	0	0	0	1	0	0	0	12287	449	16	5	577	5	POLR2B	4	57861015	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	37263677	57861015	133293261	56	9934											
UGT2B7	7364	broad.mit.edu	37	chr4	69962717	69962717	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccctgtagtgagctgcTggctgagctatttaacatac	8	15	9	9	0	0	2	0	2	0	0	1	2	1	2	1	1	5	5	1	1	4	7			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:69962717T>A	ENST00000305231.7	+	1	525	c.479T>A	c.(478-480)cTg>cAg	p.L160Q	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.L160Q	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	160					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTGAGCTGCTGGCTGAGCTA	0.373													18	60					0	0	0	0	A	69962717	T	A	69962717	3	1	52	1	0	0	0	0	1	0	0	0	17058	1580	55	5	481	5	UGT2B7	4	69962717	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	12101702	69962717	121191559	57	9935											
PARM1	25849	broad.mit.edu	37	chr4	75938035	75938035	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgctgagcctcccacactCatctcccctcaagctccagc	7	8	6	20	0	3	1	2	1	1	0	6	1	5	1	5	0	4	3	5	0	1	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:75938035C>T	ENST00000307428.7	+	2	656	c.444C>T	c.(442-444)ctC>ctT	p.L148L	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	148					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CTCCCACACTCATCTCCCCTC	0.567													70	158					0	0	0	0	T	75938035	C	T	75938035	2	4	52	1	0	0	0	0	0	0	0	1	11523	813	29	2		2	PARM1	4	75938035	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	5975318	75938035	115216241	58	9936											
WDFY3	23001	broad.mit.edu	37	chr4	85758209	85758209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatttaaccagggtggaaGgcactgacattgttgtcatg	12	11	11	7	0	1	1	1	1	0	0	1	2	1	2	1	3	2	2	1	3	3	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:85758209G>T	ENST00000322366.6	-	7	856	c.449C>A	c.(448-450)cCt>cAt	p.P150H	WDFY3_ENST00000295888.4_Missense_Mutation_p.P150H			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	150						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGGGTGGAAGGCACTGACAT	0.413													13	17					1.5842e-08	1.67408e-08	1	0	T	85758209	G	T	85758209	3	4	52	1	0	0	0	0	1	0	0	0	17366	1000	35	4	10422	4	WDFY3	4	85758209	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	9820174	85758209	105396067	59	9937											
CASP6	839	broad.mit.edu	37	chr4	110610529	110610529	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagctttttagttagcattGaggcaaaacagggaacctgc	12	10	11	8	0	0	1	0	1	0	0	0	2	0	2	1	2	5	5	1	2	5	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:110610529G>C	ENST00000265164.2	-	7	916	c.839C>G	c.(838-840)tCa>tGa	p.S280*	CASP6_ENST00000510324.1_5'UTR|CASP6_ENST00000352981.3_Nonsense_Mutation_p.S191*	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	280					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		AGTTAGCATTGAGGCAAAACA	0.408													20	57					0	0	0	0	C	110610529	G	C	110610529	4	2	52	1	0	0	0	0	0	1	0	0	2700	1294	45	2	46	2	CASP6	4	110610529	Nonsense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	24852320	110610529	80543747	60	9938											
FAT4	79633	broad.mit.edu	37	chr4	126336557	126336557	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagttatggtacttgacAtcaatgataacaaccccatc	13	13	6	9	0	1	2	1	2	0	0	2	2	1	2	2	1	3	3	2	1	6	6			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:126336557A>G	ENST00000394329.3	+	5	6452	c.6439A>G	c.(6439-6441)Atc>Gtc	p.I2147V	FAT4_ENST00000335110.5_Missense_Mutation_p.I445V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2147	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTACTTGACATCAATGATAA	0.378													42	27					0	0	0	0	G	126336557	A	G	126336557	3	3	52	1	0	0	0	0	1	0	0	0	5737	217	8	5	6457	5	FAT4	4	126336557	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	15726028	126336557	64817719	61	9939											
MFSD8	256471	broad.mit.edu	37	chr4	128861105	128861105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatctgcagtttaatcacatCccatgtcacacctttttctc	9	16	3	13	0	4	0	2	0	2	0	6	0	5	0	2	0	1	2	2	0	2	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:128861105C>A	ENST00000296468.3	-	7	728	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Intron|MFSD8_ENST00000513559.1_Missense_Mutation_p.D156Y	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	201					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TTAATCACATCCCATGTCACA	0.318													29	11					7.41945e-09	7.86831e-09	1	0	A	128861105	C	A	128861105	3	1	52	1	0	0	0	0	1	0	0	0	9607	855	30	2	983	2	MFSD8	4	128861105	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	2524548	128861105	62293171	62	9940											
ADCY2	108	broad.mit.edu	37	chr5	7698431	7698431	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctggactccctatatctctCcctaaccatgccaagaactg	10	11	5	15	0	2	1	0	0	2	1	5	2	4	2	4	1	3	0	4	1	5	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:7698431C>G	ENST00000338316.4	+	7	1142	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L	ADCY2_ENST00000537121.1_Silent_p.L171L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	351					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTATATCTCTCCCTAACCATG	0.373													63	52					0	0	0	0	G	7698431	C	G	7698431	2	3	52	1	0	0	0	0	0	0	0	1	294	842	30	2		2	ADCY2	5	7698431	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08		7698431	173216829	63	9941											
TRIO	7204	broad.mit.edu	37	chr5	14420038	14420038	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtgcggacaactgaccgctCcccagcggcagaaggcctgg	8	4	15	14	3	0	2	0	1	0	1	1	3	1	3	4	5	3	2	4	5	2	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:14420038C>G	ENST00000344204.4	+	34	5135	c.5111C>G	c.(5110-5112)tCc>tGc	p.S1704C	TRIO_ENST00000537187.1_Missense_Mutation_p.S1704C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1704	SH3 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACTGACCGCTCCCCAGCGGCA	0.592													24	19					0	0	0	0	G	14420038	C	G	14420038	3	3	52	1	0	0	0	0	1	0	0	0	16647	855	30	2	5245	2	TRIO	5	14420038	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	6721607	14420038	166495222	64	9942											
C5orf42	65250	broad.mit.edu	37	chr5	37180155	37180155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcatatccatttcctcttCtgtaaatgcttctacttcta	8	18	4	11	0	4	0	0	0	4	0	6	0	6	0	2	0	3	3	2	0	5	8			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:37180155C>G	ENST00000274258.7	-	28	5928	c.2341G>C	c.(2341-2343)Gaa>Caa	p.E781Q	C5orf42_ENST00000425232.2_Missense_Mutation_p.E1901Q|C5orf42_ENST00000508244.1_Missense_Mutation_p.E1901Q			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1901										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)			ATTTCCTCTTCTGTAAATGCT	0.239													9	29					0	0	0	0	G	37180155	C	G	37180155	3	3	52	1	0	0	0	0	1	0	0	0	2322	922	32	2	3992	2	C5orf42	5	37180155	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	22760117	37180155	143735105	65	9943											
ELOVL7	79993	broad.mit.edu	37	chr5	60063693	60063693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatagtcaacaatgtcacatCgaaatgaataacctataccc	18	9	4	10	1	2	1	2	1	0	0	3	2	2	1	2	0	3	0	2	0	9	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:60063693C>T	ENST00000505959.1	-	7	780	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	ELOVL7_ENST00000425382.1_Missense_Mutation_p.R98Q|ELOVL7_ENST00000438340.1_Missense_Mutation_p.R98Q|ELOVL7_ENST00000508821.1_Missense_Mutation_p.R98Q			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	98					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				AATGTCACATCGAAATGAATA	0.378													33	26					0	0	0	0	T	60063693	C	T	60063693	3	4	52	1	0	0	0	0	1	0	0	0	5117	884	31	1	572	1	ELOVL7	5	60063693	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	22883538	60063693	120851567	66	9944											
GPR150	285601	broad.mit.edu	37	chr5	94956164	94956164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtggcaggcaacaccaCagtgctgtgccgcctgtgcg	6	6	16	13	3	0	0	0	0	0	0	0	0	0	0	3	4	4	3	3	4	1	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:94956164C>T	ENST00000380007.2	+	1	383	c.185C>T	c.(184-186)aCa>aTa	p.T62I		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	62						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		GGCAACACCACAGTGCTGTGC	0.726													12	5					0	0	0	0	T	94956164	C	T	94956164	3	4	52	1	0	0	0	0	1	0	0	0	6705	478	17	4	187	4	GPR150	5	94956164	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	34892471	94956164	85959096	67	9945											
PCDHB5	26167	broad.mit.edu	37	chr5	140515316	140515316	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgatgtgcggggcgacagaAccctgtatattgcatttcca	9	11	12	9	2	0	2	0	1	0	1	1	3	1	2	2	2	3	2	2	2	3	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:140515316A>G	ENST00000231134.5	+	1	517	c.300A>G	c.(298-300)gaA>gaG	p.E100E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		100	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCGACAGAACCCTGTATAT	0.428													22	66					0	0	0	0	G	140515316	A	G	140515316	2	3	52	1	0	0	0	0	0	0	0	1	11616	40	2	5		5	PCDHB5	5	140515316	Silent	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	45559152	140515316	40399944	68	9946											
MYOZ3	91977	broad.mit.edu	37	chr5	150056388	150056388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcagacccagcttcaacaGagtggcccagggctgggtcc	8	7	12	14	0	2	2	2	0	1	2	4	2	3	2	3	3	2	2	3	3	1	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:150056388G>A	ENST00000297130.4	+	7	906	c.707G>A	c.(706-708)aGa>aAa	p.R236K	MYOZ3_ENST00000517768.1_Missense_Mutation_p.R236K|MYOZ3_ENST00000520112.1_Silent_p.Q152Q|MYOZ3_ENST00000456566.2_3'UTR	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	236						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTTCAACAGAGTGGCCCAG	0.642													39	197					0	0	0	0	A	150056388	G	A	150056388	3	1	52	1	0	0	0	0	1	0	0	0	10167	942	33	2	729	2	MYOZ3	5	150056388	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	9541072	150056388	30858872	69	9947											
FAT2	2196	broad.mit.edu	37	chr5	150925037	150925037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccatgcctggatggataGgcccgactattgctacctca	8	10	10	13	1	1	0	1	0	0	0	2	3	2	2	4	3	3	2	4	3	3	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:150925037G>T	ENST00000261800.5	-	9	5663	c.5651C>A	c.(5650-5652)cCt>cAt	p.P1884H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1884					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGATGGATAGGCCCGACTAT	0.478													64	135					4.09106e-26	4.6355e-26	1	0	T	150925037	G	T	150925037	3	4	52	1	0	0	0	0	1	0	0	0	5735	1000	35	4	7458	4	FAT2	5	150925037	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	868649	150925037	29990223	70	9948											
MFAP3	4238	broad.mit.edu	37	chr5	153432536	153432536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaatgtagcttttgatGaccgtgggctctatacctgt	8	14	9	10	1	2	2	1	2	1	0	2	2	2	2	3	1	2	3	3	1	4	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:153432536G>T	ENST00000436816.1	+	3	571	c.352G>T	c.(352-354)Gac>Tac	p.D118Y	MFAP3_ENST00000439768.2_5'UTR|MFAP3_ENST00000322602.5_Missense_Mutation_p.D118Y	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	118	Ig-like C2-type.					integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AGCTTTTGATGACCGTGGGCT	0.403													24	164					3.08376e-08	3.24721e-08	1	0	T	153432536	G	T	153432536	3	4	52	1	0	0	0	0	1	0	0	0	9584	1290	45	2	358	2	MFAP3	5	153432536	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	2507499	153432536	27482724	71	9949											
KIF4B	285643	broad.mit.edu	37	chr5	154395793	154395793	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaatctcgggagaatccaCctcctaaactccggaagtgt	12	8	10	11	2	1	1	0	0	1	1	5	4	4	3	4	3	1	0	4	3	5	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:154395793C>G	ENST00000435029.4	+	1	2534	c.2374C>G	c.(2374-2376)Cct>Gct	p.P792A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	792	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGAGAATCCACCTCCTAAACT	0.443													8	55					0	0	0	0	G	154395793	C	G	154395793	3	3	52	1	0	0	0	0	1	0	0	0	8355	507	18	4	2376	4	KIF4B	5	154395793	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	963257	154395793	26519467	72	9950											
HAVCR1	26762	broad.mit.edu	37	chr5	156456717	156456717	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcttctgcactcatgggcgTaaactctcaaagagcaccac	11	9	8	13	1	4	1	2	0	3	1	5	1	4	1	1	1	3	3	1	1	3	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:156456717T>G	ENST00000425854.1	-	7	1620	c.1088A>C	c.(1087-1089)tAc>tCc	p.Y363S	HAVCR1_ENST00000544197.1_3'UTR|HAVCR1_ENST00000523175.1_3'UTR|HAVCR1_ENST00000522693.1_Missense_Mutation_p.Y363S|HAVCR1_ENST00000339252.3_3'UTR			Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCATGGGCGTAAACTCTCAA	0.418													11	32					0	0	0	0	G	156456717	T	G	156456717	3	3	52	1	0	0	0	0	1	0	0	0	7023	1653	57	5		5	HAVCR1	5	156456717	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	2060924	156456717	24458543	73	9951											
FAM71B	153745	broad.mit.edu	37	chr5	156590594	156590594	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccagcataagcagaagAggtggctgcagatacatcac	13	6	10	12	0	1	3	1	0	0	3	2	3	2	3	2	2	4	4	2	2	3	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:156590594A>T	ENST00000302938.4	-	2	777	c.682T>A	c.(682-684)Tct>Act	p.S228T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	228	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAAGCAGAAGAGGTGGCTGCA	0.567													45	101					0	0	0	0	T	156590594	A	T	156590594	3	4	52	1	0	0	0	0	1	0	0	0	5654	304	11	5	1139	5	FAM71B	5	156590594	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	133877	156590594	24324666	74	9952											
SLC22A23	63027	broad.mit.edu	37	chr6	3290057	3290058	+	Frame_Shift_Ins	INS	-	-	A																															gtgtccccaccaccttcacgINSatgcagaccttcttgggcct																								rs146003925	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:3290057_3290058insA	ENST00000436008.2	-	6	1715_1716	c.1253_1254insT	c.(1252-1254)agtfs	p.S418fs	PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000490273.1_Frame_Shift_Ins_p.S137fs|SLC22A23_ENST00000380302.4_Frame_Shift_Ins_p.S137fs|SLC22A23_ENST00000406686.3_Frame_Shift_Ins_p.S418fs			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	418					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CCACCTTCACGATGCAGACCTT	0.599													34	20	---	---	---	---					A	3290058	-	A	3290057	7	5	52	1	0	1	1	0	0	0	0	0	14541	1048	37	0	826	0	SLC22A23	6	3290057	Frame_Shift_Ins	INS	-	TCGA-BB-A5HY-01A-11D-A28R-08		3290057	167825010	75	9953											
MAK	4117	broad.mit.edu	37	chr6	10818168	10818168	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctctgataacttctttcaAtttaataacattggcatgat	12	18	4	7	0	3	2	1	2	2	0	4	2	3	2	0	1	2	1	0	1	4	8			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:10818168A>G	ENST00000313243.2	-	4	575	c.193T>C	c.(193-195)Ttg>Ctg	p.L65L	MAK_ENST00000538030.1_Silent_p.L65L|MAK_ENST00000474039.1_Silent_p.L65L|MAK_ENST00000536370.1_Silent_p.L65L|RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000354489.2_Silent_p.L65L			P20794	MAK_HUMAN	male germ cell-associated kinase	65	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				ACTTCTTTCAATTTAATAACA	0.244													8	9					0	0	0	0	G	10818168	A	G	10818168	2	3	52	1	0	0	0	0	0	0	0	1	9266	98	4	5		5	MAK	6	10818168	Silent	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	7528111	10818168	160296899	76	9954											
TRIM26	7726	broad.mit.edu	37	chr6	30166570	30166570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcagcttctctcggtgtCgctcgcacaactttgcatcc	6	12	9	14	3	1	0	0	0	1	0	6	0	2	0	1	1	4	5	1	1	1	2	rs144770536		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:30166570C>T	ENST00000454678.2	-	4	747	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	TRIM26_ENST00000453195.1_Missense_Mutation_p.R104Q|TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000437089.1_Missense_Mutation_p.R104Q	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	104							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CTCTCGGTGTCGCTCGCACAA	0.647													8	63					0	0	0	0	T	30166570	C	T	30166570	3	4	52	1	0	0	0	0	1	0	0	0	16595	884	31	1	1336	1	TRIM26	6	30166570	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	19348402	30166570	140948497	77	9955											
ABCF1	23	broad.mit.edu	37	chr6	30550868	30550868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatgagcgccaagtggcttCattaaaagcagccaatgcag	13	8	11	9	1	1	1	1	1	0	0	1	1	1	1	2	1	4	4	2	1	5	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:30550868C>T	ENST00000326195.8	+	10	930	c.818C>T	c.(817-819)tCa>tTa	p.S273L	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.S235L	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	273					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CAAGTGGCTTCATTAAAAGCA	0.483													68	127					0	0	0	0	T	30550868	C	T	30550868	3	4	52	1	0	0	0	0	1	0	0	0	65	838	29	2	856	2	ABCF1	6	30550868	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	384298	30550868	140564199	78	9956											
C6orf25	80739	broad.mit.edu	37	chr6	31692648	31692648	+	Nonstop_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatggggatgggaaggggaTagccagaatctctgaggaaa	13	6	17	5	0	1	2	0	1	1	1	2	6	1	6	1	6	1	1	1	6	4	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:31692648T>G	ENST00000375810.4	+	5	707	c.667T>G	c.(667-669)Tag>Gag	p.*223E	C6orf25_ENST00000480039.1_Missense_Mutation_p.D216E|C6orf25_ENST00000375809.3_Intron|C6orf25_ENST00000375805.2_Intron			O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						GGGAAGGGGATAGCCAGAATC	0.537													20	84					0	0	0	0	G	31692648	T	G	31692648	4	3	52	1	0	0	0	0	0	0	0	0	2381	1419	49	5	685	5	C6orf25	6	31692648	Nonstop_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	1141780	31692648	139422419	79	9957											
COL11A2	1302	broad.mit.edu	37	chr6	33135307	33135307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacctatagcgccaggatCtccctgaaacacacacaagg	13	5	9	14	1	1	1	0	1	1	0	2	2	1	2	3	3	2	1	3	3	4	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:33135307C>A	ENST00000341947.2	-	56	4245	c.4018G>T	c.(4018-4020)Gat>Tat	p.D1340Y	COL11A2_ENST00000374713.1_Missense_Mutation_p.D1293Y|COL11A2_ENST00000361917.1_Missense_Mutation_p.D1233Y|COL11A2_ENST00000395197.1_Missense_Mutation_p.D1280Y|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Missense_Mutation_p.D1254Y|COL11A2_ENST00000374712.1_Missense_Mutation_p.D1259Y|COL11A2_ENST00000374714.1_Missense_Mutation_p.D1314Y|COL11A2_ENST00000357486.1_Missense_Mutation_p.D1319Y	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1340	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						GCGCCAGGATCTCCCTGAAAC	0.652													19	40					4.96729e-08	5.21216e-08	1	0	A	33135307	C	A	33135307	3	1	52	1	0	0	0	0	1	0	0	0	3698	913	32	2	1236	2	COL11A2	6	33135307	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	1442659	33135307	137979760	80	9958											
WDR46	9277	broad.mit.edu	37	chr6	33247107	33247107	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccccgtgggcttggccttCgcctccttatgatgctgctg	2	12	12	15	2	0	1	0	1	0	0	2	1	1	1	5	2	2	3	5	2	1	3	rs2475		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:33247107C>T	ENST00000374617.4	-	15	2135	c.1779G>A	c.(1777-1779)gcG>gcA	p.A593A	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	593										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						GCTTGGCCTTCGCCTCCTTAT	0.632													92	131					0	0	0	0	T	33247107	C	T	33247107	2	4	52	1	0	0	0	0	0	0	0	1	17395	871	31	1		1	WDR46	6	33247107	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	111800	33247107	137867960	81	9959											
PNPLA1	285848	broad.mit.edu	37	chr6	36269754	36269754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aacgcagtcaaccaagccttCgagcacggcaggccagtctg	11	5	11	14	3	2	0	1	0	1	0	3	1	2	0	3	2	4	3	3	2	3	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:36269754C>G	ENST00000394571.2	+	6	892	c.892C>G	c.(892-894)Cga>Gga	p.R298G	PNPLA1_ENST00000312917.5_Missense_Mutation_p.R212G|PNPLA1_ENST00000388715.3_Missense_Mutation_p.R203G	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	298					lipid catabolic process		hydrolase activity	p.R203G(1)|p.R298G(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACCAAGCCTTCGAGCACGGCA	0.582											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	108					0	0	0	0	G	36269754	C	G	36269754	3	3	52	1	0	0	0	0	1	0	0	0	12236	876	31	3	941	3	PNPLA1	6	36269754	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	3022647	36269754	134845313	82	9960											
TBC1D22B	55633	broad.mit.edu	37	chr6	37247260	37247260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgctttggcaactgcagcCcaagttctagaaaaccacag	12	9	9	11	0	1	1	0	0	1	1	1	1	1	1	2	1	5	5	2	1	5	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:37247260C>T	ENST00000373491.3	+	3	440	c.294C>T	c.(292-294)gcC>gcT	p.A98A		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	98						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CAACTGCAGCCCAAGTTCTAG	0.478													46	91					0	0	0	0	T	37247260	C	T	37247260	2	4	52	1	0	0	0	0	0	0	0	1	15703	610	22	4		4	TBC1D22B	6	37247260	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	977506	37247260	133867807	83	9961											
RCAN2	10231	broad.mit.edu	37	chr6	46293251	46293251	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttaataaagagttaggcaAcctcagagttgggagtgaag	14	11	12	4	0	1	3	1	1	0	2	1	4	1	4	1	2	1	3	1	2	6	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:46293251A>T	ENST00000330430.6	-	0	154				RCAN2_ENST00000306764.7_Intron|RCAN2_ENST00000371374.1_Intron|RCAN2_ENST00000405162.1_Intron	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2						calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GAGTTAGGCAACCTCAGAGTT	0.557													19	34					0	0	0	0	T	46293251	A	T	46293251	1	4	52	1	0	0	0	0	0	0	0	0	13251	58	2	5		5	RCAN2	6	46293251	Translation_Start_Site	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	9045991	46293251	124821816	84	9962											
PGK2	5232	broad.mit.edu	37	chr6	49754424	49754424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcatcattgacatagacGtcccctagcttggaaagtga	14	9	9	9	1	1	3	1	2	0	1	2	4	2	4	2	1	2	2	2	1	4	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:49754424G>T	ENST00000304801.3	-	1	629	c.477C>A	c.(475-477)gaC>gaA	p.D159E		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	159					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TGACATAGACGTCCCCTAGCT	0.488													42	75					2.59497e-14	2.84302e-14	1	0	T	49754424	G	T	49754424	3	4	52	1	0	0	0	0	1	0	0	0	11863	1136	40	3	780	3	PGK2	6	49754424	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	3461173	49754424	121360643	85	9963											
DST	667	broad.mit.edu	37	chr6	56494070	56494070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcaatctgcacatgaaCattttgccacctttcaacta	11	14	5	11	0	3	1	2	1	1	0	3	1	3	1	2	0	4	2	2	0	4	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:56494070C>T	ENST00000370754.5	-	31	4353	c.4354G>A	c.(4354-4356)Gtt>Att	p.V1452I	DST_ENST00000446842.2_Missense_Mutation_p.V948I|DST_ENST00000370765.6_Missense_Mutation_p.V948I|DST_ENST00000421834.2_Missense_Mutation_p.V1274I|DST_ENST00000370769.4_Missense_Mutation_p.V1274I|DST_ENST00000312431.6_Missense_Mutation_p.V1274I|DST_ENST00000518935.1_Missense_Mutation_p.V948I|DST_ENST00000370788.2_Missense_Mutation_p.V1274I|DST_ENST00000361203.3_Missense_Mutation_p.V1274I|DST_ENST00000244364.6_Missense_Mutation_p.V948I			Q03001	DYST_HUMAN	dystonin	1274					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCACATGAACATTTTGCCAC	0.338													26	119					0	0	0	0	T	56494070	C	T	56494070	3	4	52	1	0	0	0	0	1	0	0	0	4819	478	17	4	17581	4	DST	6	56494070	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	6739646	56494070	114620997	86	9964											
BAG2	9532	broad.mit.edu	37	chr6	57048751	57048751	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgggaaatgccaagagTcatttaatgtcgctctacag	12	12	10	7	1	2	1	1	0	1	1	3	3	2	2	1	1	2	1	1	1	4	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:57048751T>A	ENST00000370693.5	+	3	771	c.399T>A	c.(397-399)agT>agA	p.S133R	BAG2_ENST00000545080.1_Missense_Mutation_p.S100R	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	133	BAG.				apoptosis|protein folding		protein binding			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGCCAAGAGTCATTTAATGT	0.433													4	160					0	0	0	0	A	57048751	T	A	57048751	3	1	52	1	0	0	0	0	1	0	0	0	1291	1664	58	5	409	5	BAG2	6	57048751	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	554681	57048751	114066316	87	9965											
ROS1	6098	broad.mit.edu	37	chr6	117647402	117647402	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catacctccaactaatataaTattctcactgattccactat	14	14	1	12	0	1	1	1	1	1	0	4	1	3	1	3	0	2	0	3	0	7	8			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:117647402T>G	ENST00000368508.3	-	33	5740	c.5542A>C	c.(5542-5544)Att>Ctt	p.I1848L	ROS1_ENST00000368507.3_Missense_Mutation_p.I1842L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1848	Fibronectin type-III 9.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTAATATAATATTCTCACTG	0.338			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								50	13					0	0	0	0	G	117647402	T	G	117647402	3	3	52	1	0	0	0	0	1	0	0	0	13616	1406	49	5	1545	5	ROS1	6	117647402	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	60598651	117647402	53467665	88	9966											
MAN1A1	4121	broad.mit.edu	37	chr6	119509707	119509707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgatggcttcaacaccacCatcaaatctgaaagcttctg	13	9	7	12	1	4	1	2	1	2	0	4	2	4	1	2	1	3	2	2	1	3	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:119509707C>T	ENST00000368468.3	-	11	2023	c.1582G>A	c.(1582-1584)Ggt>Agt	p.G528S		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	528					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCAACACCACCATCAAATCTG	0.383													75	38					0	0	0	0	T	119509707	C	T	119509707	3	4	52	1	0	0	0	0	1	0	0	0	9279	594	21	4	391	4	MAN1A1	6	119509707	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	1862305	119509707	51605360	89	9967											
STX7	8417	broad.mit.edu	37	chr6	132791109	132791109	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcaagttgcctgatagaaGattctctctcatgaataaga	13	13	7	8	0	3	5	2	2	2	3	5	5	3	5	1	0	1	1	1	0	5	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:132791109G>C	ENST00000367941.2	-	7	631	c.518C>G	c.(517-519)tCt>tGt	p.S173C	STX7_ENST00000367937.4_Missense_Mutation_p.S173C	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	173	t-SNARE coiled-coil homology.				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		CCTGATAGAAGATTCTCTCTC	0.428													4	45					0	0	0	0	C	132791109	G	C	132791109	3	2	52	1	0	0	0	0	1	0	0	0	15440	942	33	2	283	2	STX7	6	132791109	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	13281402	132791109	38323958	90	9968											
BCLAF1	9774	broad.mit.edu	37	chr6	136599800	136599800	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccctctaccccttcctctGtacccataaggtcgtctcat	7	13	4	17	1	3	0	1	0	3	0	6	0	4	0	5	1	3	1	5	1	4	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:136599800G>T	ENST00000531224.1	-	4	471	c.219C>A	c.(217-219)taC>taA	p.Y73*	BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.Y73*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.Y73*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.Y71*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.Y71*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.Y71*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	73					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCCTTCCTCTGTACCCATAAG	0.438													15	125					5.03518e-11	5.41691e-11	1	0	T	136599800	G	T	136599800	4	4	52	1	0	0	0	0	0	1	0	0	1387	1372	48	4	2583	4	BCLAF1	6	136599800	Nonsense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	3808691	136599800	34515267	91	9969											
C6orf211	79624	broad.mit.edu	37	chr6	151785665	151785665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcacaggaatccatcattgCtttatgtactcacctgcaac	11	12	6	12	0	3	0	3	0	0	0	4	1	4	1	2	1	4	3	2	1	4	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:151785665C>G	ENST00000367294.3	+	4	729	c.470C>G	c.(469-471)gCt>gGt	p.A157G	C6orf211_ENST00000545879.1_Missense_Mutation_p.A38G|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	157							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TCCATCATTGCTTTATGTACT	0.333													6	18					0	0	0	0	G	151785665	C	G	151785665	3	3	52	1	0	0	0	0	1	0	0	0	2375	797	28	4	484	4	C6orf211	6	151785665	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	15185865	151785665	19329402	92	9970			1	15		2	2	12	C		8.705343e-05
C6orf211	79624	broad.mit.edu	37	chr6	151785676	151785676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcattgctttatgtactCacctgcaacaattgataaga	13	13	5	10	0	2	2	2	1	0	1	2	2	2	2	2	0	4	3	2	0	5	6			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:151785676C>T	ENST00000367294.3	+	4	740	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	C6orf211_ENST00000545879.1_Missense_Mutation_p.H42Y|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	161			H -> P (in dbSNP:rs36037706).				protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TTTATGTACTCACCTGCAACA	0.333													6	20					0	0	0	0	T	151785676	C	T	151785676	3	4	52	1	0	0	0	0	1	0	0	0	2375	826	29	2	495	2	C6orf211	6	151785676	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	11	151785676	19329391	93	9971			1	15		2	2	12	C		8.705343e-05
ESR1	2099	broad.mit.edu	37	chr6	152332804	152332804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaggctttgtggatttGaccctccatgatcaggtcca	7	15	9	10	0	2	2	2	2	0	0	4	3	4	3	3	3	0	1	3	3	0	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:152332804G>T	ENST00000440973.1	+	7	1480	c.1110G>T	c.(1108-1110)ttG>ttT	p.L370F	ESR1_ENST00000338799.5_Missense_Mutation_p.L370F|ESR1_ENST00000206249.3_Missense_Mutation_p.L370F|ESR1_ENST00000456483.2_Missense_Mutation_p.L258F|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000443427.1_Missense_Mutation_p.L370F|ESR1_ENST00000544394.1_Missense_Mutation_p.L197F	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	370	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TTGTGGATTTGACCCTCCATG	0.463													18	60					1.96292e-10	2.0966e-10	1	0	T	152332804	G	T	152332804	3	4	52	1	0	0	0	0	1	0	0	0	5294	1281	45	2	1128	2	ESR1	6	152332804	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	547128	152332804	18782263	94	9972											
SYNJ2	8871	broad.mit.edu	37	chr6	158450035	158450035	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagggggatgacagctcTgaatgggggaactccttctt	10	9	14	8	0	2	2	0	2	2	0	3	4	3	4	1	4	3	2	1	4	3	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:158450035T>G	ENST00000355585.4	+	3	537	c.462T>G	c.(460-462)tcT>tcG	p.S154S	SYNJ2_ENST00000367121.3_Silent_p.S154S|SYNJ2_ENST00000367122.2_Silent_p.S154S|SYNJ2_ENST00000449859.2_Silent_p.S103S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	154	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATGACAGCTCTGAATGGGGGA	0.607													26	97					0	0	0	0	G	158450035	T	G	158450035	2	3	52	1	0	0	0	0	0	0	0	1	15544	1567	55	5		5	SYNJ2	6	158450035	Silent	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	6117231	158450035	12665032	95	9973											
EIF3B	8662	broad.mit.edu	37	chr7	2412371	2412371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgctgcacggagaggCtccgcggatatctgtgtctt	5	12	14	10	3	2	1	0	0	2	1	3	3	3	2	1	3	3	4	1	3	1	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:2412371C>T	ENST00000360876.4	+	12	1807	c.1751C>T	c.(1750-1752)gCt>gTt	p.A584V	EIF3B_ENST00000397011.2_Missense_Mutation_p.A584V	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	584					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CACGGAGAGGCTCCGCGGATA	0.468													4	73					0	0	0	0	T	2412371	C	T	2412371	3	4	52	1	0	0	0	0	1	0	0	0	5049	797	28	4	1797	4	EIF3B	7	2412371	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08		2412371	156726292	96	9974											
GLI3	2737	broad.mit.edu	37	chr7	42004440	42004440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgcaggtctgacttgtgtCactgagctgtcctgactgca	6	12	11	12	0	2	3	1	3	1	0	3	3	3	3	2	1	3	3	2	1	0	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:42004440C>T	ENST00000395925.3	-	15	4315	c.4231G>A	c.(4231-4233)Gac>Aac	p.D1411N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1411					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGACTTGTGTCACTGAGCTGT	0.567									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				36	120					0	0	0	0	T	42004440	C	T	42004440	3	4	52	1	0	0	0	0	1	0	0	0	6490	826	29	2	515	2	GLI3	7	42004440	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	39592069	42004440	117134223	97	9975											
ADCY1	107	broad.mit.edu	37	chr7	45614712	45614712	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccataggctttgggctcgtGgtggctgcgtcgcacttgct	3	12	15	11	3	0	0	0	0	0	0	2	0	0	0	1	4	2	5	1	4	1	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:45614712G>A	ENST00000432715.1	+	0	274				ADCY1_ENST00000297323.7_Silent_p.V190V			Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TTGGGCTCGTGGTGGCTGCGT	0.647													40	14					0	0	0	0	A	45614712	G	A	45614712	1	1	52	1	0	0	0	0	0	0	0	0	292	1335	47	4		4	ADCY1	7	45614712	Translation_Start_Site	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	3610272	45614712	113523951	98	9976											
EGFR	1956	broad.mit.edu	37	chr7	55225403	55225403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaggacggacctccatGcctttgagaacctagaaatc	15	7	8	11	1	0	2	0	1	0	2	2	5	1	4	4	2	3	0	4	2	5	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:55225403G>C	ENST00000275493.2	+	11	1432	c.1255G>C	c.(1255-1257)Gcc>Ccc	p.A419P	EGFR_ENST00000344576.2_Missense_Mutation_p.A419P|EGFR_ENST00000455089.1_Missense_Mutation_p.A374P|EGFR_ENST00000442591.1_Missense_Mutation_p.A419P|EGFR_ENST00000454757.2_Missense_Mutation_p.A366P|EGFR_ENST00000342916.3_Missense_Mutation_p.A419P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	419					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGACCTCCATGCCTTTGAGAA	0.448		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			11	254					0	0	0	0	C	55225403	G	C	55225403	3	2	52	1	0	0	0	0	1	0	0	0	5003	1319	46	4	1308	4	EGFR	7	55225403	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	9610691	55225403	103913260	99	9977											
WBSCR17	64409	broad.mit.edu	37	chr7	70853310	70853310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgtcggtgatcctgcggtCcgtgcacagtgccgtcaatc	5	10	12	14	4	1	1	1	1	0	0	5	1	3	1	4	2	3	1	4	2	1	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:70853310C>T	ENST00000333538.5	+	3	1146	c.512C>T	c.(511-513)tCc>tTc	p.S171F	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	171	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATCCTGCGGTCCGTGCACAGT	0.557													15	55					0	0	0	0	T	70853310	C	T	70853310	3	4	52	1	0	0	0	0	1	0	0	0	17360	855	30	2	522	2	WBSCR17	7	70853310	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	15627907	70853310	88285353	100	9978											
ZP3	7784	broad.mit.edu	37	chr7	76058916	76058916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatcgtgaggactaacCgcgcagagattcccatcgag	10	8	11	12	4	0	2	0	1	0	1	4	5	2	3	3	1	1	1	3	1	1	2	rs149364780		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:76058916C>T	ENST00000336517.4	+	3	590	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	ZP3_ENST00000394857.3_Missense_Mutation_p.R133C|ZP3_ENST00000416245.1_5'UTR	NM_007155.5	NP_009086.4	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	133	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GAGGACTAACCGCGCAGAGAT	0.617													25	156					0	0	0	0	T	76058916	C	T	76058916	3	4	52	1	0	0	0	0	1	0	0	0	18310	652	23	1	403	1	ZP3	7	76058916	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	5205606	76058916	83079747	101	9979											
MAGI2	9863	broad.mit.edu	37	chr7	77708282	77708282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accatattctgggacctgtcCcgtgcctctcttgagcagca	7	11	9	14	1	2	1	0	1	2	0	4	2	3	2	4	1	3	2	4	1	1	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:77708282C>T	ENST00000354212.4	-	21	3941	c.3688G>A	c.(3688-3690)Gga>Aga	p.G1230R	MAGI2_ENST00000522391.1_Missense_Mutation_p.G1230R|MAGI2_ENST00000419488.1_Missense_Mutation_p.G1216R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1230						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGACCTGTCCCGTGCCTCTC	0.433													19	126					0	0	0	0	T	77708282	C	T	77708282	3	4	52	1	0	0	0	0	1	0	0	0	9260	632	22	4	687	4	MAGI2	7	77708282	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	1649366	77708282	81430381	102	9980											
AKAP9	10142	broad.mit.edu	37	chr7	91735020	91735020	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttggttcgacggtggcatCgagtcacaggttctgtttcc	5	15	12	9	3	2	0	1	0	1	0	5	2	3	0	1	4	0	4	1	4	0	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:91735020C>T	ENST00000359028.2	+	47	11596	c.11371C>T	c.(11371-11373)Cga>Tga	p.R3791*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R3787*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R3737*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3791					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACGGTGGCATCGAGTCACAGG	0.333			T	BRAF	papillary thyroid								31	45					0	0	0	0	T	91735020	C	T	91735020	4	4	52	1	0	0	0	0	0	1	0	0	459	876	31	1	11545	1	AKAP9	7	91735020	Nonsense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	14026738	91735020	67403643	103	9981											
PPP1R9A	55607	broad.mit.edu	37	chr7	94539776	94539776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagttgttaagttggaGtcttctgtttctgaacgaat	8	16	11	6	1	4	1	1	1	3	0	4	3	4	2	0	2	1	5	0	2	3	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:94539776G>C	ENST00000289495.5	+	1	567	c.351G>C	c.(349-351)gaG>gaC	p.E117D	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E117D|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E117D|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E117D|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E117D|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E117D	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	117	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTAAGTTGGAGTCTTCTGTTT	0.413										HNSCC(28;0.073)			18	99					0	0	0	0	C	94539776	G	C	94539776	3	2	52	1	0	0	0	0	1	0	0	0	12454	1020	36	4	353	4	PPP1R9A	7	94539776	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	2804756	94539776	64598887	104	9982											
TRRAP	8295	broad.mit.edu	37	chr7	98591296	98591296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgagagctccaccccacccTtctgtcttccctggaaggca	7	8	9	17	1	2	1	0	0	2	1	4	3	4	2	5	2	1	2	5	2	1	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:98591296T>C	ENST00000359863.4	+	65	10150	c.9941T>C	c.(9940-9942)cTt>cCt	p.L3314P	TRRAP_ENST00000446306.3_Missense_Mutation_p.L3303P|TRRAP_ENST00000355540.3_Missense_Mutation_p.L3285P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3314					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CACCCCACCCTTCTGTCTTCC	0.542													16	94					0	0	0	0	C	98591296	T	C	98591296	3	2	52	1	0	0	0	0	1	0	0	0	16696	1609	56	5	10104	5	TRRAP	7	98591296	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	4051520	98591296	60547367	105	9983											
EPHB4	2050	broad.mit.edu	37	chr7	100421372	100421372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcaggagcgcccagccCgaggcagggacaggcactcg	8	3	15	15	3	0	0	0	0	0	0	1	3	0	2	3	4	3	3	3	4	0	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:100421372C>A	ENST00000358173.3	-	3	773	c.305G>T	c.(304-306)cGg>cTg	p.R102L	EPHB4_ENST00000360620.3_Missense_Mutation_p.R102L|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	102					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCGCCCAGCCCGAGGCAGGGA	0.672													53	72					7.71302e-15	8.48147e-15	1	0	A	100421372	C	A	100421372	3	1	52	1	0	0	0	0	1	0	0	0	5215	652	23	3	2718	3	EPHB4	7	100421372	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	1830076	100421372	58717291	106	9984											
DNAJC2	27000	broad.mit.edu	37	chr7	102968144	102968144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcattatctccttcttttAttggttcaccagctgctttc	6	19	5	11	0	4	0	2	0	2	0	6	0	4	0	2	1	2	3	2	1	2	7			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:102968144A>G	ENST00000379263.3	-	4	639	c.389T>C	c.(388-390)aTa>aCa	p.I130T	DNAJC2_ENST00000249270.7_Missense_Mutation_p.I130T|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	130	J.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TCCTTCTTTTATTGGTTCACC	0.328													18	29					0	0	0	0	G	102968144	A	G	102968144	3	3	52	1	0	0	0	0	1	0	0	0	4675	449	16	5	1532	5	DNAJC2	7	102968144	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	2546772	102968144	56170519	107	9985											
NRCAM	4897	broad.mit.edu	37	chr7	107823215	107823215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagggcctgaactttgatCaggtatggaacaaaggttgg	11	11	13	6	0	2	2	2	2	0	0	2	3	2	3	1	5	2	2	1	5	4	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:107823215C>T	ENST00000379028.3	-	23	2924	c.2454G>A	c.(2452-2454)ctG>ctA	p.L818L	NRCAM_ENST00000351718.4_Silent_p.L802L|NRCAM_ENST00000425651.2_Silent_p.L818L|NRCAM_ENST00000413765.2_Silent_p.L799L|NRCAM_ENST00000379022.4_Silent_p.L818L|NRCAM_ENST00000379024.4_Silent_p.L799L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	818	Fibronectin type-III 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GAACTTTGATCAGGTATGGAA	0.483													27	43					0	0	0	0	T	107823215	C	T	107823215	2	4	52	1	0	0	0	0	0	0	0	1	10715	813	29	2		2	NRCAM	7	107823215	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	4855071	107823215	51315448	108	9986											
EPHB6	2051	broad.mit.edu	37	chr7	142564266	142564266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctgtggtgcaccaggTgagccgggcatccaacagca	8	7	13	13	1	0	1	0	1	0	0	2	1	2	1	4	3	4	3	4	3	1	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:142564266T>C	ENST00000392957.2	+	10	2277	c.1490T>C	c.(1489-1491)gTg>gCg	p.V497A	EPHB6_ENST00000411471.2_Missense_Mutation_p.V220A|EPHB6_ENST00000442129.1_Missense_Mutation_p.V497A	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	497	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGCACCAGGTGAGCCGGGCA	0.587													24	65					0	0	0	0	C	142564266	T	C	142564266	3	2	52	1	0	0	0	0	1	0	0	0	5216	1696	59	5	1512	5	EPHB6	7	142564266	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	34741051	142564266	16574397	109	9987											
HTR5A	3361	broad.mit.edu	37	chr7	154863002	154863002	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacggccagcatctggaaCgtgacggccatagccctgga	9	6	13	13	3	1	1	0	1	1	0	1	3	1	3	3	4	4	2	3	4	2	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:154863002C>T	ENST00000287907.2	+	1	969	c.393C>T	c.(391-393)aaC>aaT	p.N131N	AC093726.4_ENST00000395731.2_Silent_p.T4T|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Silent_p.T4T	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	131						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCATCTGGAACGTGACGGCCA	0.642													4	62					0	0	0	0	T	154863002	C	T	154863002	2	4	52	1	0	0	0	0	0	0	0	1	7503	535	19	1		1	HTR5A	7	154863002	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	12298736	154863002	4275661	110	9988											
WDR60	55112	broad.mit.edu	37	chr7	158726893	158726893	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttctgccttcagatcctAatcactttattattggcaca	11	16	4	10	0	3	1	2	0	1	1	4	1	4	1	2	1	1	1	2	1	4	7			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:158726893A>G	ENST00000407559.3	+	22	2778	c.2620A>G	c.(2620-2622)Aat>Gat	p.N874D		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	874										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTCAGATCCTAATCACTTTAT	0.313													7	22					0	0	0	0	G	158726893	A	G	158726893	3	3	52	1	0	0	0	0	1	0	0	0	17407	362	13	5	2706	5	WDR60	7	158726893	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	3863891	158726893	411770	111	9989											
DOCK5	80005	broad.mit.edu	37	chr8	25174611	25174611	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagaatgtggaggtgacGatgtctgtgcacgatgagga	12	8	15	6	2	1	3	0	2	1	1	1	7	1	5	1	3	1	1	1	3	2	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:25174611G>T	ENST00000276440.7	+	14	1451	c.1407G>T	c.(1405-1407)acG>acT	p.T469T		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	469	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGGAGGTGACGATGTCTGTGC	0.498													101	84					2.54621e-43	2.92962e-43	1	0	T	25174611	G	T	25174611	2	4	52	1	0	0	0	0	0	0	0	1	4726	1045	37	3		3	DOCK5	8	25174611	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08		25174611	121189411	112	9990											
INTS9	55756	broad.mit.edu	37	chr8	28747393	28747393	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaggagcgaagactcaccaGtttcataatggacttttggt	11	12	10	8	1	2	1	2	0	0	1	2	4	2	3	1	3	1	1	1	3	3	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:28747393G>A	ENST00000416984.2	-	1	366	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	INTS9_ENST00000521777.1_5'UTR|INTS9_ENST00000397363.4_5'UTR|INTS9_ENST00000521022.1_Silent_p.L3L	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	3					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		AGACTCACCAGTTTCATAATG	0.527													12	9					0	0	0	0	A	28747393	G	A	28747393	2	1	52	1	0	0	0	0	0	0	0	1	7838	1020	36	4		4	INTS9	8	28747393	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	3572782	28747393	117616629	113	9991											
UNC5D	137970	broad.mit.edu	37	chr8	35541103	35541103	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagagcccattgactctgaAcaagacgagaacattgacac	16	6	9	10	1	1	6	0	3	1	3	1	8	1	6	1	0	3	0	1	0	4	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:35541103A>G	ENST00000287272.2	+	5	629	c.609A>G	c.(607-609)gaA>gaG	p.E203E	UNC5D_ENST00000416672.1_Silent_p.E203E|UNC5D_ENST00000420357.1_Silent_p.E203E|UNC5D_ENST00000453357.2_Silent_p.E198E|UNC5D_ENST00000404895.2_Silent_p.E203E			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	203	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGACTCTGAACAAGACGAGA	0.453													4	82					0	0	0	0	G	35541103	A	G	35541103	2	3	52	1	0	0	0	0	0	0	0	1	17091	40	2	5		5	UNC5D	8	35541103	Silent	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	6793710	35541103	110822919	114	9992											
TMEM67	91147	broad.mit.edu	37	chr8	94798550	94798550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactcagccaagagtaattcGagttgctactcaaatatcac	15	10	6	10	1	3	1	3	0	0	1	4	2	3	1	1	0	4	3	1	0	6	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:94798550G>A	ENST00000453321.3	+	13	1446	c.1388G>A	c.(1387-1389)cGa>cAa	p.R463Q	TMEM67_ENST00000409623.3_Missense_Mutation_p.R382Q	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	463					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AGAGTAATTCGAGTTGCTACT	0.378													52	39					0	0	0	0	A	94798550	G	A	94798550	3	1	52	1	0	0	0	0	1	0	0	0	16290	1058	37	1	1576	1	TMEM67	8	94798550	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	59257447	94798550	51565472	115	9993											
RIMS2	9699	broad.mit.edu	37	chr8	104927760	104927760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgaatcaggtcggctttGtgcatttattactaaagtaa	12	14	9	6	1	1	1	1	1	0	0	2	2	1	1	0	2	2	3	0	2	6	6			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:104927760G>T	ENST00000507740.1	+	5	1510	c.1274G>T	c.(1273-1275)tGt>tTt	p.C425F	RIMS2_ENST00000406091.3_Missense_Mutation_p.C617F|RIMS2_ENST00000436393.2_Missense_Mutation_p.C395F|RIMS2_ENST00000262231.10_Missense_Mutation_p.C472F	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	695					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGTCGGCTTTGTGCATTTATT	0.333										HNSCC(12;0.0054)			24	68					1.16021e-09	1.23479e-09	1	0	T	104927760	G	T	104927760	3	4	52	1	0	0	0	0	1	0	0	0	13453	1377	48	4	2002	4	RIMS2	8	104927760	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	10129210	104927760	41436262	116	9994											
PKHD1L1	93035	broad.mit.edu	37	chr8	110466951	110466951	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catttgtgacatcttttgcaGattggaacagagacatcccc	11	12	8	10	0	1	3	0	1	1	2	2	5	2	4	2	1	2	1	2	1	1	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:110466951G>C	ENST00000378402.5	+	45	6848		c.e45-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATCTTTTGCAGATTGGAACAG	0.423										HNSCC(38;0.096)			50	62					0	0	0	0	C	110466951	G	C	110466951	5	2	52	1	0	0	0	0	0	0	1	0	12044	956	33	2	6922	2	PKHD1L1	8	110466951	Splice_Site	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	5539191	110466951	35897071	117	9995											
CSMD3	114788	broad.mit.edu	37	chr8	113484819	113484819	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgagtcgaatcttacttaCcaaactcctttggaactgct	12	13	6	10	1	1	1	0	1	1	0	3	3	2	2	2	1	5	1	2	1	6	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:113484819C>G	ENST00000297405.5	-	32	5640		c.e32+1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCTTACTTACCAAACTCCTT	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	109					0	0	0	0	G	113484819	C	G	113484819	5	3	52	1	0	0	0	0	0	0	1	0	3978	521	18	4	5887	4	CSMD3	8	113484819	Splice_Site	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	3017868	113484819	32879203	118	9996											
TG	7038	broad.mit.edu	37	chr8	133925509	133925509	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcaggacggactgggatgCggtaggtccactctctccct	7	9	13	12	2	2	0	1	0	1	0	5	3	4	3	2	5	1	1	2	5	1	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:133925509C>T	ENST00000220616.4	+	20	4417	c.4378_splice	c.e20+1	p.C1459_splice	TG_ENST00000377869.1_Splice_Site_p.C1459_splice	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1459					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACTGGGATGCGGTAGGTCCA	0.567													75	13					0	0	0	0	T	133925509	C	T	133925509	5	4	52	1	0	0	0	0	0	0	1	0	15907	782	27	1	4455	1	TG	8	133925509	Splice_Site	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	20440690	133925509	12438513	119	9997											
FREM1	158326	broad.mit.edu	37	chr9	14863832	14863832	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtctgagcttcactgtgtCttcatcaagaattggacaac	12	12	8	9	0	5	2	3	1	2	1	5	3	5	3	0	1	2	1	0	1	4	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:14863832C>G	ENST00000380881.4	-	4	1119	c.304G>C	c.(304-306)Gac>Cac	p.D102H	FREM1_ENST00000380880.3_Missense_Mutation_p.D102H|FREM1_ENST00000422223.2_Missense_Mutation_p.D102H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	102					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCACTGTGTCTTCATCAAGA	0.423													10	16					0	0	0	0	G	14863832	C	G	14863832	3	3	52	1	0	0	0	0	1	0	0	0	6092	913	32	2	6425	2	FREM1	9	14863832	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08		14863832	126349599	120	9998											
PSIP1	11168	broad.mit.edu	37	chr9	15486044	15486044	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcagcttttggagtagttAtgtcaactgctttagtcaca	9	15	10	7	0	2	0	2	0	0	0	2	1	2	1	0	2	3	5	0	2	4	6			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:15486044A>G	ENST00000380733.4	-	6	759	c.416T>C	c.(415-417)aTa>aCa	p.I139T	PSIP1_ENST00000397519.2_Missense_Mutation_p.I139T|PSIP1_ENST00000380716.4_Missense_Mutation_p.I139T|PSIP1_ENST00000380715.1_Missense_Mutation_p.I139T|PSIP1_ENST00000380738.4_Missense_Mutation_p.I139T			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	139					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TGGAGTAGTTATGTCAACTGC	0.328													69	34					0	0	0	0	G	15486044	A	G	15486044	3	3	52	1	0	0	0	0	1	0	0	0	12742	449	16	5	1249	5	PSIP1	9	15486044	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	622212	15486044	125727387	121	9999											
DENND4C	55667	broad.mit.edu	37	chr9	19335103	19335103	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttatggttattataataaGgtaagtaggatcgacattag	15	14	9	3	1	0	0	0	0	0	0	1	2	0	1	0	3	0	3	0	3	8	8			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:19335103G>A	ENST00000307015.9	+	14	1914	c.162_splice	c.e14+1	p.K54_splice	DENND4C_ENST00000602925.1_Splice_Site_p.K863_splice|DENND4C_ENST00000380432.2_Splice_Site_p.K627_splice|DENND4C_ENST00000540671.1_5'UTR|DENND4C_ENST00000434457.2_Splice_Site_p.K863_splice			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	627						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATTATAATAAGGTAAGTAGGA	0.328													5	10					0	0	0	0	A	19335103	G	A	19335103	5	1	52	1	0	0	0	0	0	0	1	0	4472	1014	35	4	1935	4	DENND4C	9	19335103	Splice_Site	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	3849059	19335103	121878328	122	10000											
MTAP	4507	broad.mit.edu	37	chr9	21854752	21854752	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttccgcacctggggggcGgatgttatcaacatgaccac	9	9	12	11	2	1	1	1	1	0	0	2	2	2	2	3	4	1	3	3	4	2	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:21854752G>A	ENST00000380172.4	+	6	779	c.573G>A	c.(571-573)gcG>gcA	p.A191A	MTAP_ENST00000460874.2_Silent_p.A208A|RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Silent_p.A191A	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	191					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	CCTGGGGGGCGGATGTTATCA	0.532													57	33					0	0	0	0	A	21854752	G	A	21854752	2	1	52	1	0	0	0	0	0	0	0	1	9981	1103	39	1		1	MTAP	9	21854752	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	2519649	21854752	119358679	123	10001											
CDKN2A	1029	broad.mit.edu	37	chr9	21974695	21974696	+	Frame_Shift_Ins	INS	-	-	TAAC																															cctggatcggcctccgaccgINStaactattcggtgcgttggg																										TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:21974695_21974696insTAAC	ENST00000304494.5	-	1	401_402	c.131_132insGTTA	c.(130-132)tggfs	p.W44fs	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.W44fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.W44fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.W44fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Y44*(3)|p.0(1)|p.V28_V51del(1)|p.Y44fs*76(1)|p.G45del(1)|p.Y44S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCTCCGACCGTAACTATTCGG	0.683		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			78	102	---	---	---	---					TAAC	21974696	-	TAAC	21974695	7	5	52	1	0	1	1	0	0	0	0	0	3190	1140	40	0	551	0	CDKN2A	9	21974695	Frame_Shift_Ins	INS	-	TCGA-BB-A5HY-01A-11D-A28R-08	119943	21974695	119238736	124	10002											
SHC3	53358	broad.mit.edu	37	chr9	91653097	91653097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttgcagttcctccagcatCttggcatctggggctctagg	5	12	12	12	0	3	0	0	0	3	0	5	0	5	0	2	4	2	6	2	4	1	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:91653097C>G	ENST00000375835.4	-	11	1773	c.1467G>C	c.(1465-1467)aaG>aaC	p.K489N	SHC3_ENST00000375830.1_Missense_Mutation_p.K37N|SHC3_ENST00000375831.1_Missense_Mutation_p.K37N	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	489	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCTCCAGCATCTTGGCATCTG	0.577													60	144					0	0	0	0	G	91653097	C	G	91653097	3	3	52	1	0	0	0	0	1	0	0	0	14360	912	32	2	325	2	SHC3	9	91653097	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	69678402	91653097	49560334	125	10003											
INVS	27130	broad.mit.edu	37	chr9	103055252	103055252	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgactgcagataattcagAgagaacgaaggaggaaggag	16	5	14	6	2	1	3	1	0	0	3	2	9	2	6	1	3	2	1	1	3	4	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:103055252A>T	ENST00000262457.2	+	14	2898	c.2713A>T	c.(2713-2715)Aga>Tga	p.R905*	INVS_ENST00000541287.1_Nonsense_Mutation_p.R809*|INVS_ENST00000262456.2_Nonsense_Mutation_p.R735*	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	905					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GATAATTCAGAGAGAACGAAG	0.537													20	65					0	0	0	0	T	103055252	A	T	103055252	4	4	52	1	0	0	0	0	0	1	0	0	7840	296	11	5	2763	5	INVS	9	103055252	Nonsense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	11402155	103055252	38158179	126	10004											
ZDHHC12	84885	broad.mit.edu	37	chr9	131486279	131486279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggggtccggctcaccggtatCgtgcaggaagagcaccagcg	8	5	16	12	4	1	1	1	0	0	1	3	2	2	2	3	5	3	4	3	5	2	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:131486279C>G	ENST00000372667.5	-	1	123	c.94G>C	c.(94-96)Gat>Cat	p.D32H	ZDHHC12_ENST00000372672.2_Missense_Mutation_p.D32H|ZDHHC12_ENST00000372663.4_Missense_Mutation_p.D32H|ZDHHC12_ENST00000467312.1_5'UTR			Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	32						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						TCACCGGTATCGTGCAGGAAG	0.692													10	18					0	0	0	0	G	131486279	C	G	131486279	3	3	52	1	0	0	0	0	1	0	0	0	17697	884	31	3	729	3	ZDHHC12	9	131486279	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	28431027	131486279	9727152	127	10005											
GTF3C5	9328	broad.mit.edu	37	chr9	135927456	135927456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccccagctgtttgacAtccgtcccatctggtcccga	5	10	9	17	2	1	1	0	1	1	0	5	2	5	1	6	2	1	2	6	2	0	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:135927456A>G	ENST00000372097.5	+	5	1101	c.778A>G	c.(778-780)Atc>Gtc	p.I260V	GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372095.5_Missense_Mutation_p.I135V|GTF3C5_ENST00000372108.5_Missense_Mutation_p.I260V|GTF3C5_ENST00000372099.6_Missense_Mutation_p.I251V	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	260						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GCTGTTTGACATCCGTCCCAT	0.577													39	41					0	0	0	0	G	135927456	A	G	135927456	3	3	52	1	0	0	0	0	1	0	0	0	6926	217	8	5	796	5	GTF3C5	9	135927456	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	4441177	135927456	5285975	128	10006											
LCN12	286256	broad.mit.edu	37	chr9	139848183	139848183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgacacatggtcttatgtgCtgataccggcagcccagcct	8	10	11	12	1	1	2	0	2	1	0	1	2	1	2	3	2	4	2	3	2	2	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:139848183C>G	ENST00000371633.3	+	3	283	c.283C>G	c.(283-285)Ctg>Gtg	p.L95V	LCN12_ENST00000466277.1_3'UTR	NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	95					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GTCTTATGTGCTGATACCGGC	0.642													4	24					0	0	0	0	G	139848183	C	G	139848183	3	3	52	1	0	0	0	0	1	0	0	0	8735	796	28	4	293	4	LCN12	9	139848183	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	3920727	139848183	1365248	129	10007											
FAM166A	401565	broad.mit.edu	37	chr9	140140219	140140219	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcaggggctcttctgcAcactggggtctgtgagcagc	7	8	15	11	0	3	2	0	1	3	1	3	2	3	2	0	4	4	4	0	4	0	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:140140219A>G	ENST00000344774.4	-	2	197	c.143T>C	c.(142-144)gTg>gCg	p.V48A	FAM166A_ENST00000388932.2_Missense_Mutation_p.V48A	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	48										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GCTCTTCTGCACACTGGGGTC	0.612													9	104					0	0	0	0	G	140140219	A	G	140140219	3	3	52	1	0	0	0	0	1	0	0	0	5522	159	6	5	834	5	FAM166A	9	140140219	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	292036	140140219	1073212	130	10008											
ANKRD30A	91074	broad.mit.edu	37	chr10	37430711	37430711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaacacctgacacagctGaaagcttggtggaaaaaaca	19	5	9	8	0	0	3	0	2	0	1	0	4	0	4	1	2	4	2	1	2	6	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:37430711G>A	ENST00000374660.1	+	7	817	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E240K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E240K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	296						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGACACAGCTGAAAGCTTGGT	0.493													13	19					0	0	0	0	A	37430711	G	A	37430711	3	1	52	1	0	0	0	0	1	0	0	0	658	1291	45	2	744	2	ANKRD30A	10	37430711	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08		37430711	98104036	131	10009											
ZNF248	57209	broad.mit.edu	37	chr10	38121537	38121537	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaaactttcaatgaaggttCttccacattcgttatattta	12	18	4	7	1	2	1	1	1	1	0	4	1	3	1	1	1	1	2	1	1	7	9			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:38121537C>G	ENST00000395867.3	-	6	1296	c.746G>C	c.(745-747)aGa>aCa	p.R249T	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.R249T	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						AATGAAGGTTCTTCCACATTC	0.373													7	23					0	0	0	0	G	38121537	C	G	38121537	3	3	52	1	0	0	0	0	1	0	0	0	17888	913	32	2	997	2	ZNF248	10	38121537	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	690826	38121537	97413210	132	10010											
RET	5979	broad.mit.edu	37	chr10	43600624	43600624	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acaccgccagcgccgtggtgGagttcaagcggaaggaggtg	9	5	17	10	4	1	0	1	0	0	0	1	3	1	3	3	5	2	1	3	5	2	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:43600624G>C	ENST00000355710.3	+	4	1082	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	RET_ENST00000340058.5_Missense_Mutation_p.E284Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	284					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGCCGTGGTGGAGTTCAAGCG	0.652		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				11	27					0	0	0	0	C	43600624	G	C	43600624	3	2	52	1	0	0	0	0	1	0	0	0	13317	1175	41	2	864	2	RET	10	43600624	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	5479087	43600624	91934123	133	10011											
AGAP7	653268	broad.mit.edu	37	chr10	51465226	51465226	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggatggcttggacccaTgcatcccgctcctcatatgt	6	12	9	14	1	2	0	1	0	1	0	4	2	4	2	3	3	1	3	3	3	1	2	rs1047416		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:51465226T>G	ENST00000374095.5	-	7	1355	c.1230A>C	c.(1228-1230)gcA>gcC	p.A410A		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	410	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTGGACCCATGCATCCCGCT	0.542													4	175					0	0	0	0	G	51465226	T	G	51465226	2	3	52	1	0	0	0	0	0	0	0	1	373	1451	51	5		5	AGAP7	10	51465226	Silent	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	7864602	51465226	84069521	134	10012											
PCDH15	65217	broad.mit.edu	37	chr10	55719586	55719586	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcacaggctccccatcatCaaaagcaaccaccaccaact	15	5	3	18	0	3	0	3	0	0	0	4	0	4	0	5	1	3	2	5	1	4	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:55719586C>G	ENST00000373965.2	-	24	3443	c.3049G>C	c.(3049-3051)Gat>Cat	p.D1017H	PCDH15_ENST00000395445.1_Missense_Mutation_p.D1017H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1010H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1010H|PCDH15_ENST00000437009.1_Missense_Mutation_p.D939H|PCDH15_ENST00000409834.1_Missense_Mutation_p.D621H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1015H|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1010H|PCDH15_ENST00000395433.1_Missense_Mutation_p.D988H|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1010H|PCDH15_ENST00000395432.2_Missense_Mutation_p.D973H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1010	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCCCATCATCAAAAGCAACC	0.383										HNSCC(58;0.16)			13	39					0	0	0	0	G	55719586	C	G	55719586	3	3	52	1	0	0	0	0	1	0	0	0	11582	826	29	2	4502	2	PCDH15	10	55719586	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	4254360	55719586	79815161	135	10013											
ANK3	288	broad.mit.edu	37	chr10	61834668	61834668	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatttcttccgaactaaattCtatccagtcatcttcaggag	11	14	6	10	1	5	0	2	0	3	0	7	3	7	1	2	1	1	0	2	1	4	6			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:61834668C>G	ENST00000280772.1	-	37	6162	c.5971G>C	c.(5971-5973)Gaa>Caa	p.E1991Q	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1991					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAACTAAATTCTATCCAGTCA	0.443													10	43					0	0	0	0	G	61834668	C	G	61834668	3	3	52	1	0	0	0	0	1	0	0	0	622	922	32	2	7503	2	ANK3	10	61834668	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	6115082	61834668	73700079	136	10014											
MYOF	26509	broad.mit.edu	37	chr10	95089563	95089563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattttcaggtctttttcttGaggtaagtagcagctcagtt	9	17	9	6	0	4	1	2	1	2	0	4	1	4	1	0	2	2	5	0	2	3	8			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:95089563G>C	ENST00000371501.4	-	44	4962	c.4840C>G	c.(4840-4842)Caa>Gaa	p.Q1614E	MYOF_ENST00000371502.4_Missense_Mutation_p.Q1633E|MYOF_ENST00000358334.5_Missense_Mutation_p.Q1601E|MYOF_ENST00000359263.4_Missense_Mutation_p.Q1614E			Q9NZM1	MYOF_HUMAN	myoferlin	1614	C2 5.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTTTTTCTTGAGGTAAGTAG	0.393													51	65					0	0	0	0	C	95089563	G	C	95089563	3	2	52	1	0	0	0	0	1	0	0	0	10159	1299	45	2	1389	2	MYOF	10	95089563	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	33254895	95089563	40445184	137	10015											
ZNF518A	9849	broad.mit.edu	37	chr10	97916275	97916275	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagtcctattgaaacatGaagttgacaaatacagaaaa	20	9	7	5	0	0	5	0	4	0	1	1	5	1	5	1	0	2	1	1	0	8	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:97916275G>A	ENST00000534948.1	+	0	1053							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATTGAAACATGAAGTTGACAA	0.303													20	61					0	0	0	0	A	97916275	G	A	97916275	1	1	52	0	1	0	0	0	0	0	0	0	18057	1291	45	2		2	ZNF518A	10	97916275	RNA	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	2826712	97916275	37618472	138	10016											
SORCS1	114815	broad.mit.edu	37	chr10	108521404	108521404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccatcttctcccaaattCagcagagctgtataactgta	11	12	6	12	0	3	1	1	0	2	1	4	1	3	1	2	0	4	4	2	0	4	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:108521404C>T	ENST00000263054.6	-	5	908	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	SORCS1_ENST00000344440.6_Missense_Mutation_p.E301K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	301						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTCCCAAATTCAGCAGAGCTG	0.363													24	40					0	0	0	0	T	108521404	C	T	108521404	3	4	52	1	0	0	0	0	1	0	0	0	15018	835	29	2	2927	2	SORCS1	10	108521404	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	10605129	108521404	27013343	139	10017											
FAM160B1	57700	broad.mit.edu	37	chr10	116620577	116620577	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccctcatccacacatcCacgagtaccttttggatcct	8	13	4	16	1	2	0	1	0	1	0	6	2	6	1	5	1	1	1	5	1	1	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:116620577C>A	ENST00000369248.4	+	15	2352	c.2017C>A	c.(2017-2019)Cac>Aac	p.H673N	FAM160B1_ENST00000369250.3_Missense_Mutation_p.H673N	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	673										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TCCACACATCCACGAGTACCT	0.403													6	195					0.0215528	0.0220712	1	0	A	116620577	C	A	116620577	3	1	52	1	0	0	0	0	1	0	0	0	5511	594	21	4	2075	4	FAM160B1	10	116620577	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	8099173	116620577	18914170	140	10018											
ZRANB1	54764	broad.mit.edu	37	chr10	126631453	126631453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatctggctcaagaccagttGctttttctgttgatccttgt	6	17	9	9	0	3	2	1	1	2	1	4	3	4	2	2	1	1	4	2	1	1	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:126631453G>T	ENST00000359653.4	+	1	762	c.391G>T	c.(391-393)Gct>Tct	p.A131S		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	131					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AAGACCAGTTGCTTTTTCTGT	0.463													24	54					2.21704e-12	2.39376e-12	1	0	T	126631453	G	T	126631453	3	4	52	1	0	0	0	0	1	0	0	0	18315	1319	46	4	393	4	ZRANB1	10	126631453	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	10010876	126631453	8903294	141	10019											
MKI67	4288	broad.mit.edu	37	chr10	129907334	129907334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcaaaaggtctttctatttCcttcatctctccttctctcc	6	18	2	15	0	6	0	2	0	4	0	11	0	9	0	3	1	0	0	3	1	3	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:129907334C>T	ENST00000368654.3	-	13	3145	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	MKI67_ENST00000368653.3_Missense_Mutation_p.E564K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	924					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTTCTATTTCCTTCATCTCT	0.348													20	65					0	0	0	0	T	129907334	C	T	129907334	3	4	52	1	0	0	0	0	1	0	0	0	9667	864	30	2	7012	2	MKI67	10	129907334	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	3275881	129907334	5627413	142	10020											
SIGIRR	59307	broad.mit.edu	37	chr11	407459	407459	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcgcggtcgtccaggaaGagcttgtagccccgacgccg	7	6	15	13	6	0	1	0	0	0	1	3	3	1	2	4	3	2	2	4	3	2	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:407459G>T	ENST00000431843.2	-	6	897	c.591C>A	c.(589-591)ctC>ctA	p.L197L	SIGIRR_ENST00000531205.1_Silent_p.L197L|SIGIRR_ENST00000397632.3_Silent_p.L197L|SIGIRR_ENST00000332725.3_Silent_p.L197L|SIGIRR_ENST00000382520.2_Silent_p.L197L|SIGIRR_ENST00000529486.1_5'UTR	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	197	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTCCAGGAAGAGCTTGTAGC	0.711													4	7					0.00024832	0.000256942	1	0	T	407459	G	T	407459	2	4	52	1	0	0	0	0	0	0	0	1	14392	929	33	2		2	SIGIRR	11	407459	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08		407459	134599057	143	10021											
OR52E8	390079	broad.mit.edu	37	chr11	5878738	5878738	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatggccaggaagtagtaCataggctcatggagactctg	13	8	12	8	0	2	1	1	0	1	1	2	3	2	2	1	4	2	3	1	4	5	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:5878738C>A	ENST00000537935.1	-	1	226	c.195G>T	c.(193-195)atG>atT	p.M65I	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGTAGTACATAGGCTCAT	0.458													84	51					3.1376e-36	3.59618e-36	1	0	A	5878738	C	A	5878738	3	1	52	1	0	0	0	0	1	0	0	0	11189	478	17	4	760	4	OR52E8	11	5878738	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	5471279	5878738	129127778	144	10022											
GLYAT	10249	broad.mit.edu	37	chr11	58480315	58480315	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttggggatctttggagtaGatttggtaagtattggtata	9	18	13	1	0	1	1	0	0	1	1	1	3	1	3	0	5	0	4	0	5	5	10			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:58480315G>C	ENST00000344743.3	-	4	375	c.234C>G	c.(232-234)atC>atG	p.I78M	GLYAT_ENST00000529732.1_Missense_Mutation_p.I78M|GLYAT_ENST00000278400.3_Missense_Mutation_p.I78M	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	78					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTTTGGAGTAGATTTGGTAAG	0.348													27	76					0	0	0	0	C	58480315	G	C	58480315	3	2	52	1	0	0	0	0	1	0	0	0	6530	932	33	2	672	2	GLYAT	11	58480315	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	52601577	58480315	76526201	145	10023											
HRASLS2	54979	broad.mit.edu	37	chr11	63326054	63326054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctcccccagccaccacaGacagcagttccttcttcact	8	10	5	18	0	3	1	1	0	2	1	5	1	4	1	5	0	2	2	5	0	0	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:63326054G>A	ENST00000255695.1	-	3	255	c.197C>T	c.(196-198)tCt>tTt	p.S66F		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	66					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGCCACCACAGACAGCAGTTC	0.522													80	84					0	0	0	0	A	63326054	G	A	63326054	3	1	52	1	0	0	0	0	1	0	0	0	7400	942	33	2	299	2	HRASLS2	11	63326054	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	4845739	63326054	71680462	146	10024											
PACS1	55690	broad.mit.edu	37	chr11	66006744	66006744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagcgccctggccatcGtggggtaaggctcctgcccg	5	7	15	14	3	0	1	0	1	0	0	2	1	1	1	4	4	3	3	4	4	1	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:66006744G>A	ENST00000320580.4	+	21	2458	c.2425G>A	c.(2425-2427)Gtg>Atg	p.V809M	PACS1_ENST00000529757.1_Missense_Mutation_p.V345M	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	809					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CCTGGCCATCGTGGGGTAAGG	0.657													25	42					0	0	0	0	A	66006744	G	A	66006744	3	1	52	1	0	0	0	0	1	0	0	0	11443	1145	40	1	2507	1	PACS1	11	66006744	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	2680690	66006744	68999772	147	10025											
CCDC87	55231	broad.mit.edu	37	chr11	66359859	66359863	+	Frame_Shift_Del	DEL	GGATA	GGATA	-																															gccagtgctgtgaggccaggGgatagggcacagcttgaacg																										TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:66359859_66359863delGGATA	ENST00000333861.3	-	1	691_695	c.624_628delTATCC	c.(622-630)ccccfs	p.PIP208fs		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	208										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGAGGCCAGGGGATAGGGCACAGCT	0.605													11	59	---	---	---	---					-	66359863	GGATA	-	66359859	7	5	52	1	0	1	0	1	0	0	0	0	2889	1232	43	0	1925	0	CCDC87	11	66359859	Frame_Shift_Del	DEL	GGATA	TCGA-BB-A5HY-01A-11D-A28R-08	353115	66359859	68646657	148	10026											
PITPNM1	9600	broad.mit.edu	37	chr11	67263728	67263728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggcgatggcctggaacttCggggccagcaggggctcgag	6	5	20	10	3	0	0	0	0	0	0	2	3	0	1	2	8	2	2	2	8	1	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:67263728C>T	ENST00000356404.3	-	15	2463	c.2238G>A	c.(2236-2238)ccG>ccA	p.P746P	PITPNM1_ENST00000534749.1_Silent_p.P746P|PITPNM1_ENST00000436757.2_Silent_p.P745P	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	746	DDHD.				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCTGGAACTTCGGGGCCAGCA	0.647													19	45					0	0	0	0	T	67263728	C	T	67263728	2	4	52	1	0	0	0	0	0	0	0	1	12022	871	31	1		1	PITPNM1	11	67263728	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	903869	67263728	67742788	149	10027											
GSTP1	2950	broad.mit.edu	37	chr11	67352222	67352222	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagtccaataccatcctgCgtcacctgggccgcaccctt	8	8	7	18	2	1	0	1	0	0	0	3	0	3	0	7	1	2	1	7	1	2	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:67352222C>G	ENST00000398606.3	+	4	460	c.211C>G	c.(211-213)Cgt>Ggt	p.R71G	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Missense_Mutation_p.R71G	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	71	GST N-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	TACCATCCTGCGTCACCTGGG	0.612													21	125					0	0	0	0	G	67352222	C	G	67352222	3	3	52	1	0	0	0	0	1	0	0	0	6894	768	27	3	225	3	GSTP1	11	67352222	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	88494	67352222	67654294	150	10028											
TPCN2	219931	broad.mit.edu	37	chr11	68822238	68822238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctcgatgtggctttaccGacggtattactcgaacgtat	9	12	10	10	5	0	0	0	0	0	0	2	3	0	0	1	2	4	4	1	2	5	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:68822238G>A	ENST00000294309.3	+	3	325	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	TPCN2_ENST00000542467.1_Missense_Mutation_p.R75Q	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	75					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGGCTTTACCGACGGTATTAC	0.602													9	27					0	0	0	0	A	68822238	G	A	68822238	3	1	52	1	0	0	0	0	1	0	0	0	16491	1058	37	1	234	1	TPCN2	11	68822238	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	1470016	68822238	66184278	151	10029											
IFT46	56912	broad.mit.edu	37	chr11	118415635	118415635	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcttgggaagtgtctcagCtgaaggttaatgtctccatg	9	12	12	8	0	2	1	1	1	2	0	4	2	2	2	1	2	2	3	1	2	3	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:118415635C>G	ENST00000264020.2	-	13	1441	c.1064G>C	c.(1063-1065)aGc>aCc	p.S355T	TMEM25_ENST00000354284.4_Intron|IFT46_ENST00000264021.3_Missense_Mutation_p.S304T|TMEM25_ENST00000442938.2_Intron|IFT46_ENST00000530872.1_3'UTR	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	304					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						AGTGTCTCAGCTGAAGGTTAA	0.512													3	11					0	0	0	0	G	118415635	C	G	118415635	3	3	52	1	0	0	0	0	1	0	0	0	7613	797	28	4	7	4	IFT46	11	118415635	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	49593397	118415635	16590881	152	10030											
FAM118B	79607	broad.mit.edu	37	chr11	126110935	126110935	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaccttatccagaaactctCtcctgtgagtaccctagtat	10	13	6	12	0	1	3	0	2	1	1	4	3	3	3	4	0	2	2	4	0	5	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:126110935C>G	ENST00000533050.1	+	4	828	c.335C>G	c.(334-336)tCt>tGt	p.S112C	FAM118B_ENST00000525728.1_3'UTR|FAM118B_ENST00000360194.4_Missense_Mutation_p.S112C	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	112										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		CAGAAACTCTCTCCTGTGAGT	0.393													23	86					0	0	0	0	G	126110935	C	G	126110935	3	3	52	1	0	0	0	0	1	0	0	0	5453	913	32	2	341	2	FAM118B	11	126110935	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	7695300	126110935	8895581	153	10031											
RACGAP1	29127	broad.mit.edu	37	chr12	50385913	50385913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaggaaagcaggcgctcaaCcacctaaaagccagcaaatc	17	3	8	13	1	1	0	1	0	0	0	2	1	1	1	3	2	4	3	3	2	6	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:50385913C>T	ENST00000434422.1	-	16	1883	c.1582G>A	c.(1582-1584)Gtt>Att	p.V528I	RACGAP1_ENST00000454520.2_Missense_Mutation_p.V528I|RACGAP1_ENST00000312377.5_Missense_Mutation_p.V528I|RACGAP1_ENST00000427314.2_Missense_Mutation_p.V528I|RACGAP1_ENST00000547905.1_Missense_Mutation_p.V528I|RACGAP1_ENST00000551016.1_Missense_Mutation_p.V528I|RACGAP1_ENST00000548961.1_Missense_Mutation_p.V38I			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	528	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						AGGCGCTCAACCACCTAAAAG	0.443													67	99					0	0	0	0	T	50385913	C	T	50385913	3	4	52	1	0	0	0	0	1	0	0	0	13059	507	18	4	328	4	RACGAP1	12	50385913	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08		50385913	83465982	154	10032											
EIF4B	1975	broad.mit.edu	37	chr12	53421933	53421933	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcggtcgtggagctccagaGatgattactctcgggatgat	9	11	13	8	3	1	3	0	2	1	1	5	6	2	5	1	3	2	1	1	3	1	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:53421933G>C	ENST00000262056.9	+	8	1266	c.940G>C	c.(940-942)Gat>Cat	p.D314H	EIF4B_ENST00000420463.3_Missense_Mutation_p.D314H|EIF4B_ENST00000416762.3_Missense_Mutation_p.D275H|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	314	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GAGCTCCAGAGATGATTACTC	0.468													25	88					0	0	0	0	C	53421933	G	C	53421933	3	2	52	1	0	0	0	0	1	0	0	0	5065	942	33	2	970	2	EIF4B	12	53421933	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	3036020	53421933	80429962	155	10033											
LRP1	4035	broad.mit.edu	37	chr12	57539234	57539234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggcctaaagggcttcGtggatgagcacaccatcaac	10	8	11	12	1	1	1	1	1	0	0	2	2	1	2	3	3	3	2	3	3	3	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:57539234G>A	ENST00000243077.3	+	6	1268	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	LRP1_ENST00000554174.1_Missense_Mutation_p.V268M|LRP1_ENST00000338962.4_Missense_Mutation_p.V268M|LRP1_ENST00000553277.1_Missense_Mutation_p.V268M|RP11-545N8.3_ENST00000555461.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	268					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.V268M(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AAAGGGCTTCGTGGATGAGCA	0.597													30	92					0	0	0	0	A	57539234	G	A	57539234	3	1	52	1	0	0	0	0	1	0	0	0	9015	1145	40	1	824	1	LRP1	12	57539234	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	4117301	57539234	76312661	156	10034											
AGAP2	116986	broad.mit.edu	37	chr12	58121794	58121794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggacccaggcatcccGctcctcaaaactggctgcct	7	7	10	17	1	1	0	1	0	0	0	3	1	3	1	5	4	2	3	5	4	2	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:58121794G>A	ENST00000257897.3	-	14	1709	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	AGAP2-AS1_ENST00000542466.2_3'UTR|AGAP2_ENST00000547588.1_Missense_Mutation_p.R898W	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	898	G domain.				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						CAGGCATCCCGCTCCTCAAAA	0.557													146	116					0	0	0	0	A	58121794	G	A	58121794	3	1	52	1	0	0	0	0	1	0	0	0	368	1086	38	1	906	1	AGAP2	12	58121794	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	582560	58121794	75730101	157	10035											
IRAK3	11213	broad.mit.edu	37	chr12	66620516	66620516	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcaaggtttcatcacccaAacatactagagttggctgca	12	12	7	10	0	3	1	3	0	0	1	3	1	3	1	1	2	3	4	1	2	4	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:66620516A>T	ENST00000261233.4	+	7	1088	c.667A>T	c.(667-669)Aac>Tac	p.N223Y	IRAK3_ENST00000457197.2_Missense_Mutation_p.N162Y	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	223	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCATCACCCAAACATACTAGA	0.388													34	19					0	0	0	0	T	66620516	A	T	66620516	3	4	52	1	0	0	0	0	1	0	0	0	7877	14	1	5	693	5	IRAK3	12	66620516	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	8498722	66620516	67231379	158	10036											
TRHDE	29953	broad.mit.edu	37	chr12	73050773	73050773	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagaatttcttaatactgaAggtgaactcaaagaggtaaa	18	10	8	5	0	2	4	1	2	1	2	2	4	2	4	0	2	2	1	0	2	8	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:73050773A>T	ENST00000261180.4	+	18	3012	c.2916A>T	c.(2914-2916)gaA>gaT	p.E972D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	972					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTAATACTGAAGGTGAACTCA	0.294													76	30					0	0	0	0	T	73050773	A	T	73050773	3	4	52	1	0	0	0	0	1	0	0	0	16574	69	3	5	2986	5	TRHDE	12	73050773	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	6430257	73050773	60801122	159	10037											
ZDHHC17	23390	broad.mit.edu	37	chr12	77240409	77240409	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagatattttatgggctaccTattcttcttgctttttatga	8	21	6	6	0	2	2	0	1	2	1	2	2	2	2	1	1	2	2	1	1	6	12			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:77240409T>A	ENST00000426126.2	+	14	2106	c.1457T>A	c.(1456-1458)cTa>cAa	p.L486Q	ZDHHC17_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.L486Q	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	486					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ATGGGCTACCTATTCTTCTTG	0.358													6	11					0	0	0	0	A	77240409	T	A	77240409	3	1	52	1	0	0	0	0	1	0	0	0	17702	1522	53	5	1511	5	ZDHHC17	12	77240409	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	4189636	77240409	56611486	160	10038											
PAWR	5074	broad.mit.edu	37	chr12	80014868	80014868	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atactcacctgtagcagataGgaactgcctggatctagtaa	13	10	9	9	0	2	1	1	0	1	1	2	3	2	3	2	2	4	3	2	2	6	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:80014868G>C	ENST00000328827.4	-	3	1008	c.636C>G	c.(634-636)tcC>tcG	p.S212S		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	212					actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GTAGCAGATAGGAACTGCCTG	0.363													56	136					0	0	0	0	C	80014868	G	C	80014868	2	2	52	1	0	0	0	0	0	0	0	1	11548	987	35	4		4	PAWR	12	80014868	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	2774459	80014868	53837027	161	10039											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100491278	100491278	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatttatttctttaaaagtCaaaacctaaggagaacacag	18	11	5	7	0	2	1	1	0	1	1	2	2	2	1	1	1	2	0	1	1	8	6			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:100491278C>G	ENST00000279907.7	-	6	746	c.534G>C	c.(532-534)ttG>ttC	p.L178F	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.L178F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	178										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTTAAAAGTCAAAACCTAAG	0.323													26	33					0	0	0	0	G	100491278	C	G	100491278	3	3	52	1	0	0	0	0	1	0	0	0	17065	825	29	2	3948	2	UHRF1BP1L	12	100491278	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	20476410	100491278	33360617	162	10040											
TCHP	84260	broad.mit.edu	37	chr12	110350876	110350877	+	Splice_Site	INS	-	-	G																															cgggacagactgatgagcgaINSggtaatcccagctgcggcga																										TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:110350876_110350877insG	ENST00000312777.5	+	10	1347_1348	c.1134_splice	c.e10+1	p.G378_splice	TCHP_ENST00000405876.4_Splice_Site_p.G378_splice	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	378	Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CTGATGAGCGAGGTAATCCCAG	0.604													45	15	---	---	---	---					G	110350877	-	G	110350876	8	5	52	1	0	1	1	0	0	0	1	0	15796	318	11	0	1167	0	TCHP	12	110350876	Splice_Site	INS	-	TCGA-BB-A5HY-01A-11D-A28R-08	9859598	110350876	23501019	163	10041											
RPH3A	22895	broad.mit.edu	37	chr12	113328749	113328749	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctcattgtgggcatcatAcgctgcgtgcacctggctgc	5	10	13	13	2	2	0	2	0	0	0	2	0	2	0	2	3	4	4	2	3	1	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:113328749A>T	ENST00000389385.4	+	19	2213	c.1716A>T	c.(1714-1716)atA>atT	p.I572I	RPH3A_ENST00000415485.3_Silent_p.I572I|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Silent_p.I572I|RPH3A_ENST00000551052.1_Silent_p.I568I|RPH3A_ENST00000548866.1_Silent_p.I523I|RPH3A_ENST00000543106.2_Silent_p.I572I|RPH3A_ENST00000447659.2_Silent_p.I523I	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	572	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGGGCATCATACGCTGCGTGC	0.582													3	35					0	0	0	0	T	113328749	A	T	113328749	2	4	52	1	0	0	0	0	0	0	0	1	13636	381	14	5		5	RPH3A	12	113328749	Silent	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	2977873	113328749	20523146	164	10042											
MLXIP	22877	broad.mit.edu	37	chr12	122618456	122618456	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttgactgggggcaggcctAagcagccccacaaaatagtg	11	6	12	12	0	0	1	0	1	0	0	0	1	0	1	4	3	2	2	4	3	4	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:122618456A>C	ENST00000319080.6	+	9	1786	c.1654A>C	c.(1654-1656)Aag>Cag	p.K552Q	MLXIP_ENST00000377037.2_Missense_Mutation_p.K142Q|MLXIP_ENST00000538698.1_Missense_Mutation_p.K159Q			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGGCAGGCCTAAGCAGCCCCA	0.612													20	10					0	0	0	0	C	122618456	A	C	122618456	3	2	52	1	0	0	0	0	1	0	0	0	9705	363	13	5	1688	5	MLXIP	12	122618456	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	9289707	122618456	11233439	165	10043											
DDX51	317781	broad.mit.edu	37	chr12	132624979	132624979	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaactcacagctggatcttCccctgttcaaactgcttcag	9	11	8	13	0	4	0	3	0	1	0	5	2	5	2	2	2	4	3	2	2	2	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:132624979C>T	ENST00000397333.3	-	11	1700	c.1662G>A	c.(1660-1662)ggG>ggA	p.G554G		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	554	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GCTGGATCTTCCCCTGTTCAA	0.612													73	43					0	0	0	0	T	132624979	C	T	132624979	2	4	52	1	0	0	0	0	0	0	0	1	4401	842	30	2		2	DDX51	12	132624979	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	10006523	132624979	1226916	166	10044											
C1QTNF9	338872	broad.mit.edu	37	chr13	24890210	24890210	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataaactcacaggacacctgCaggcaagggcaccctggaat	14	5	10	12	0	1	0	1	0	0	0	1	2	1	2	2	4	2	3	2	4	4	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:24890210C>T	ENST00000382071.2	+	2	154	c.69C>T	c.(67-69)tgC>tgT	p.C23C	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Silent_p.C23C			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	23						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)		AGGACACCTGCAGGCAAGGGC	0.542													23	30					0	0	0	0	T	24890210	C	T	24890210	2	4	52	1	0	0	0	0	0	0	0	1	1989	718	25	4		4	C1QTNF9	13	24890210	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08		24890210	90279668	167	10045											
RNF6	6049	broad.mit.edu	37	chr13	26789049	26789049	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttccctttgggaattatGataaacagtgccactctgtc	10	14	7	10	0	1	1	0	1	1	0	3	2	2	2	2	1	2	0	2	1	4	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:26789049G>C	ENST00000381588.4	-	5	1722	c.970C>G	c.(970-972)Cat>Gat	p.H324D	RNF6_ENST00000346166.3_Missense_Mutation_p.H324D|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.H324D	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	324	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TGGGAATTATGATAAACAGTG	0.413													32	105					0	0	0	0	C	26789049	G	C	26789049	3	2	52	1	0	0	0	0	1	0	0	0	13583	1290	45	2	1091	2	RNF6	13	26789049	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	1898839	26789049	88380829	168	10046											
CDK8	1024	broad.mit.edu	37	chr13	26967560	26967560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacgtcagaaccaatatttCactgtcgacaagaggacatc	15	9	7	10	2	2	2	2	0	0	2	4	4	2	3	1	1	2	0	1	1	5	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:26967560C>A	ENST00000381527.3	+	7	1206	c.703C>A	c.(703-705)Cac>Aac	p.H235N	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	235	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		ACCAATATTTCACTGTCGACA	0.343													57	47					5.12918e-33	5.8563e-33	1	0	A	26967560	C	A	26967560	3	1	52	1	0	0	0	0	1	0	0	0	3179	826	29	2	729	2	CDK8	13	26967560	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	178511	26967560	88202318	169	10047											
ZC3H13	23091	broad.mit.edu	37	chr13	46542134	46542134	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgactctggagaacttcttcTtgaactatggcttcttgaat	9	16	8	8	0	4	4	0	3	4	1	4	5	4	4	0	2	2	1	0	2	4	6			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:46542134T>A	ENST00000242848.4	-	15	4174	c.3826A>T	c.(3826-3828)Aga>Tga	p.R1276*	ZC3H13_ENST00000378921.2_Nonsense_Mutation_p.R232*|ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R1276*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1276	Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GAACTTCTTCTTGAACTATGG	0.368													4	98					0	0	0	0	A	46542134	T	A	46542134	4	1	52	1	0	0	0	0	0	1	0	0	17660	1617	56	5	880	5	ZC3H13	13	46542134	Nonsense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	19574574	46542134	68627744	170	10048											
UGGT2	55757	broad.mit.edu	37	chr13	96684209	96684209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaaatttttcattactttCttctgccataaattcactat	12	18	1	10	0	4	0	2	0	2	0	4	0	4	0	2	0	2	0	2	0	6	8			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:96684209C>T	ENST00000376747.3	-	2	245	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	UGGT2_ENST00000397618.3_Missense_Mutation_p.E59K|UGGT2_ENST00000376714.3_Missense_Mutation_p.E59K|UGGT2_ENST00000376712.4_Missense_Mutation_p.E59K	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	59					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCATTACTTTCTTCTGCCATA	0.269													13	12					0	0	0	0	T	96684209	C	T	96684209	3	4	52	1	0	0	0	0	1	0	0	0	17038	922	32	2	4527	2	UGGT2	13	96684209	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	50142075	96684209	18485669	171	10049											
GAS6	2621	broad.mit.edu	37	chr13	114549558	114549558	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagacccatacttgttgatGcagtctgcaggaagaaaggg	12	8	14	7	0	1	3	0	1	1	2	1	5	1	4	1	3	3	3	1	3	3	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:114549558G>A	ENST00000357389.3	-	4	437	c.285C>T	c.(283-285)tgC>tgT	p.C95C	GAS6_ENST00000327773.6_Silent_p.C95C|GAS6_ENST00000355761.4_Silent_p.C41C			Q14393	GAS6_HUMAN	growth arrest-specific 6	95					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				ACTTGTTGATGCAGTCTGCAG	0.542													63	28					0	0	0	0	A	114549558	G	A	114549558	2	1	52	1	0	0	0	0	0	0	0	1	6298	1311	46	4		4	GAS6	13	114549558	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	17865349	114549558	620320	172	10050											
RPGRIP1	57096	broad.mit.edu	37	chr14	21796588	21796588	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatctttctattcaggatcaGatggcatctcctgaggttcc	8	14	9	10	0	5	2	2	1	3	1	7	4	6	3	2	3	0	2	2	3	1	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr14:21796588G>C	ENST00000206660.6	+	18	2901	c.2901G>C	c.(2899-2901)caG>caC	p.Q967H	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.Q293H|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q929H|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.Q326H|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q624H|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.Q967H			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	967	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TTCAGGATCAGATGGCATCTC	0.433													35	43					0	0	0	0	C	21796588	G	C	21796588	3	2	52	1	0	0	0	0	1	0	0	0	13634	933	33	2	2971	2	RPGRIP1	14	21796588	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08		21796588	85552952	173	10051											
SRP54	6729	broad.mit.edu	37	chr14	35487966	35487966	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgggccccttcagtcagAtcttggttagttatccttaa	10	14	8	9	0	3	1	2	0	1	1	4	1	4	1	3	2	0	2	3	2	4	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr14:35487966A>C	ENST00000556994.1	+	13	1439	c.1042A>C	c.(1042-1044)Atc>Ctc	p.I348L	SRP54_ENST00000546080.1_Missense_Mutation_p.I299L|SRP54_ENST00000555557.1_Missense_Mutation_p.I284L|SRP54_ENST00000216774.6_Missense_Mutation_p.I348L			P61011	SRP54_HUMAN	signal recognition particle 54kDa	348	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		CTTCAGTCAGATCTTGGTTAG	0.289													4	33					0	0	0	0	C	35487966	A	C	35487966	3	2	52	1	0	0	0	0	1	0	0	0	15245	333	12	5	1084	5	SRP54	14	35487966	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	13691378	35487966	71861574	174	10052											
TP53BP1	7158	broad.mit.edu	37	chr15	43705329	43705329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccttaccctcctcttcttCactgcttcctgtaggaccat	5	14	6	16	0	3	0	1	0	2	0	5	1	5	1	5	2	2	2	5	2	2	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:43705329C>T	ENST00000263801.3	-	24	5530	c.5278G>A	c.(5278-5280)Gaa>Aaa	p.E1760K	TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1765K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1715K|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1763K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1760	BRCT 1.|Poly-Glu.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCCTCTTCTTCACTGCTTCCT	0.527								Other conserved DNA damage response genes					7	40					0	0	0	0	T	43705329	C	T	43705329	3	4	52	1	0	0	0	0	1	0	0	0	16478	835	29	2	660	2	TP53BP1	15	43705329	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08		43705329	58826063	175	10053											
ARPP19	10776	broad.mit.edu	37	chr15	52849391	52849391	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgcttcttctgctttcTctggactagtcactttatct	5	21	5	10	0	5	0	1	0	4	0	6	1	5	1	0	1	2	2	0	1	2	8			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:52849391T>A	ENST00000566423.1	-	3	207	c.74A>T	c.(73-75)gAg>gTg	p.E25V	ARPP19_ENST00000569281.2_Missense_Mutation_p.E25V|ARPP19_ENST00000561971.1_Missense_Mutation_p.E44V|ARPP19_ENST00000564163.1_Missense_Mutation_p.E44V|ARPP19_ENST00000563277.1_Missense_Mutation_p.E9V|ARPP19_ENST00000568196.1_Missense_Mutation_p.E9V|ARPP19_ENST00000561650.1_Missense_Mutation_p.E9V|ARPP19_ENST00000563566.1_Missense_Mutation_p.E9V|ARPP19_ENST00000567669.1_Missense_Mutation_p.E25V|ARPP19_ENST00000249822.4_Missense_Mutation_p.E25V|ARPP19_ENST00000569723.1_Intron			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa	25					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTCTGCTTTCTCTGGACTAGT	0.323													12	61					0	0	0	0	A	52849391	T	A	52849391	3	1	52	1	0	0	0	0	1	0	0	0	981	1551	54	5	272	5	ARPP19	15	52849391	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	9144062	52849391	49682001	176	10054											
PIAS1	8554	broad.mit.edu	37	chr15	68479984	68479984	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacctcctcacagatgttTcttgatcagttaagtgcagg	10	14	8	9	0	3	2	2	1	1	1	4	2	4	2	2	1	2	3	2	1	3	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:68479984T>G	ENST00000545237.1	+	15	2514	c.1773T>G	c.(1771-1773)ttT>ttG	p.F591L	PIAS1_ENST00000249636.6_Missense_Mutation_p.F589L			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	589	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CACAGATGTTTCTTGATCAGT	0.507													35	24					0	0	0	0	G	68479984	T	G	68479984	3	3	52	1	0	0	0	0	1	0	0	0	11947	1780	62	5	1821	5	PIAS1	15	68479984	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	15630593	68479984	34051408	177	10055											
PAQR5	54852	broad.mit.edu	37	chr15	69682093	69682093	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtactgaacaccatcctCagcacaggcctctcctgcta	9	9	7	16	0	2	1	1	1	1	0	4	1	3	1	4	1	4	4	4	1	3	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:69682093C>T	ENST00000340965.3	+	6	1154	c.486C>T	c.(484-486)ctC>ctT	p.L162L	PAQR5_ENST00000561153.1_Silent_p.L162L|PAQR5_ENST00000395407.2_Silent_p.L162L	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	162					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						ACACCATCCTCAGCACAGGCC	0.582													14	50					0	0	0	0	T	69682093	C	T	69682093	2	4	52	1	0	0	0	0	0	0	0	1	11509	813	29	2		2	PAQR5	15	69682093	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	1202109	69682093	32849299	178	10056											
ARNT2	9915	broad.mit.edu	37	chr15	80872870	80872870	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggtggcatggacagggagtCgtccgccctttccgggacag	7	7	16	11	3	0	0	0	0	0	0	3	3	2	3	3	5	0	1	3	5	0	1	rs144530385		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:80872870C>G	ENST00000533983.1	+	17	2038	c.1699C>G	c.(1699-1701)Cgt>Ggt	p.R567G	RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000303329.4_Missense_Mutation_p.R578G|ARNT2_ENST00000527771.1_Missense_Mutation_p.R567G			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	578					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GACAGGGAGTCGTCCGCCCTT	0.567													19	53					0	0	0	0	G	80872870	C	G	80872870	3	3	52	1	0	0	0	0	1	0	0	0	970	884	31	3	1794	3	ARNT2	15	80872870	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	11190777	80872870	21658522	179	10057											
RHCG	51458	broad.mit.edu	37	chr15	90039687	90039687	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcgaagtcgtagcgcAcgaacaccccgaagagaatc	12	4	11	14	6	0	1	0	0	0	1	3	5	0	1	3	1	2	2	3	1	5	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:90039687A>G	ENST00000268122.4	-	1	157	c.89T>C	c.(88-90)gTg>gCg	p.V30A	RHCG_ENST00000544600.1_Missense_Mutation_p.V30A	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	30					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GTCGTAGCGCACGAACACCCC	0.587													52	184					0	0	0	0	G	90039687	A	G	90039687	3	3	52	1	0	0	0	0	1	0	0	0	13409	159	6	5	1390	5	RHCG	15	90039687	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	9166817	90039687	12491705	180	10058											
KIF7	374654	broad.mit.edu	37	chr15	90176070	90176070	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggctggatctcaggcgcTtgctctccagccccgtcttc	3	11	10	17	2	3	0	1	0	3	0	6	1	3	1	4	3	2	3	4	3	0	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:90176070T>A	ENST00000394412.3	-	14	2952	c.2876A>T	c.(2875-2877)aAg>aTg	p.K959M		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	959					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCTCAGGCGCTTGCTCTCCAG	0.657													9	25					0	0	0	0	A	90176070	T	A	90176070	3	1	52	1	0	0	0	0	1	0	0	0	8360	1609	56	5	1179	5	KIF7	15	90176070	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	136383	90176070	12355322	181	10059											
FAM174B	400451	broad.mit.edu	37	chr15	93173554	93173554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatatcatacttgcgtgtCttctttaacctctttcccga	8	17	5	11	2	4	1	1	1	3	0	5	2	5	1	2	0	3	0	2	0	3	7			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:93173554C>A	ENST00000327355.5	-	2	664	c.366G>T	c.(364-366)aaG>aaT	p.K122N	FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	122						integral to membrane				endometrium(2)|lung(1)	3						ACTTGCGTGTCTTCTTTAACC	0.507													13	12					1.61879e-10	1.73525e-10	1	0	A	93173554	C	A	93173554	3	1	52	1	0	0	0	0	1	0	0	0	5537	912	32	2	121	2	FAM174B	15	93173554	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	2997484	93173554	9357838	182	10060											
CREBBP	1387	broad.mit.edu	37	chr16	3823862	3823862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctctgagcgggcgcctgggCcatcatgttgttggtgtgtg	3	12	17	9	2	2	1	1	1	1	0	2	1	2	1	2	3	1	3	2	3	0	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:3823862C>T	ENST00000262367.5	-	13	3162	c.2353G>A	c.(2353-2355)Gcc>Acc	p.A785T	CREBBP_ENST00000382070.3_Missense_Mutation_p.A747T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	785					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGCGCCTGGGCCATCATGTTG	0.597			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						4	126					0	0	0	0	T	3823862	C	T	3823862	3	4	52	1	0	0	0	0	1	0	0	0	3891	739	26	4	5051	4	CREBBP	16	3823862	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08		3823862	86530891	183	10061											
ANKS3	124401	broad.mit.edu	37	chr16	4777097	4777097	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctcaagcagcaggtgcacGattgtgtcgtggccaatgta	9	9	13	10	2	1	0	1	0	0	0	2	1	1	0	2	2	3	4	2	2	3	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:4777097G>A	ENST00000304283.4	-	4	546	c.252C>T	c.(250-252)atC>atT	p.I84I	ANKS3_ENST00000585773.1_Silent_p.I11I|ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000592711.1_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	84										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCAGGTGCACGATTGTGTCGT	0.542													17	34					0	0	0	0	A	4777097	G	A	4777097	2	1	52	1	0	0	0	0	0	0	0	1	689	1048	37	1		1	ANKS3	16	4777097	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	953235	4777097	85577656	184	10062											
CACNG3	10368	broad.mit.edu	37	chr16	24358114	24358114	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagatgctgactacgaaCaggacacagccgaatatctc	14	7	9	11	2	1	3	0	2	1	1	2	6	1	4	1	1	4	1	1	1	5	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:24358114C>G	ENST00000005284.3	+	2	1473	c.271C>G	c.(271-273)Cag>Gag	p.Q91E		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	91					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TGACTACGAACAGGACACAGC	0.567													8	37					0	0	0	0	G	24358114	C	G	24358114	3	3	52	1	0	0	0	0	1	0	0	0	2583	479	17	4	277	4	CACNG3	16	24358114	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	19581017	24358114	65996639	185	10063											
SETD1A	9739	broad.mit.edu	37	chr16	30974808	30974808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggctcctacacccctcAgactgtgcccactgggggca	8	7	10	16	0	1	1	1	0	0	1	2	1	2	1	4	3	2	2	4	3	2	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:30974808A>G	ENST00000262519.8	+	5	1258	c.572A>G	c.(571-573)cAg>cGg	p.Q191R		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TACACCCCTCAGACTGTGCCC	0.527													75	45					0	0	0	0	G	30974808	A	G	30974808	3	3	52	1	0	0	0	0	1	0	0	0	14217	188	7	5	586	5	SETD1A	16	30974808	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	6616694	30974808	59379945	186	10064											
SLC6A2	6530	broad.mit.edu	37	chr16	55719143	55719143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgtctgatggtcgtcGtcatcgtcttgtattttagc	4	18	10	9	3	4	1	1	1	3	0	7	1	4	1	0	1	2	2	0	1	2	4	rs1805066	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:55719143G>A	ENST00000379906.2	+	4	988	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	SLC6A2_ENST00000561820.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V245I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V140I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.V245I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.V245I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	245			V -> I (in dbSNP:rs1805066).		synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GATGGTCGTCGTCATCGTCTT	0.527													18	77					0	0	0	0	A	55719143	G	A	55719143	3	1	52	1	0	0	0	0	1	0	0	0	14771	1145	40	1	838	1	SLC6A2	16	55719143	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	24744335	55719143	34635610	187	10065											
CNOT1	23019	broad.mit.edu	37	chr16	58587688	58587688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttacagagggcacttacctCctgtaaatgatgtggaaatt	12	12	10	7	0	0	2	0	1	0	1	1	3	1	3	2	2	2	3	2	2	5	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:58587688C>G	ENST00000317147.5	-	22	3300	c.2968G>C	c.(2968-2970)Gag>Cag	p.E990Q	CNOT1_ENST00000569732.1_Intron|CNOT1_ENST00000569240.1_Missense_Mutation_p.E985Q|CNOT1_ENST00000441024.2_Missense_Mutation_p.E990Q	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	990					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCACTTACCTCCTGTAAATGA	0.353													15	61					0	0	0	0	G	58587688	C	G	58587688	3	3	52	1	0	0	0	0	1	0	0	0	3647	864	30	2	4496	2	CNOT1	16	58587688	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	2868545	58587688	31767065	188	10066											
CDH1	999	broad.mit.edu	37	chr16	68857424	68857424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttagaggtcagcgtgtgtGactgtgaaggggccgctggc	6	9	17	9	2	1	3	1	2	0	1	1	3	1	3	2	4	1	1	2	4	2	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:68857424G>C	ENST00000261769.5	+	13	2250	c.2059G>C	c.(2059-2061)Gac>Cac	p.D687H	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.D626H|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	687	Cadherin 5.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.E682fs*34(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CAGCGTGTGTGACTGTGAAGG	0.498			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				19	120					0	0	0	0	C	68857424	G	C	68857424	3	2	52	1	0	0	0	0	1	0	0	0	3124	1290	45	2	2109	2	CDH1	16	68857424	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	10269736	68857424	21497329	189	10067											
ATP2A3	489	broad.mit.edu	37	chr17	3850779	3850779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccacggacggcaggcttCgcacgatggcgttcttgcgt	5	10	13	13	6	2	0	0	0	2	0	4	2	2	1	1	4	1	4	1	4	0	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:3850779C>T	ENST00000309890.7	-	8	1151	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	ATP2A3_ENST00000397041.3_Missense_Mutation_p.R334Q|ATP2A3_ENST00000359983.3_Missense_Mutation_p.R334Q|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Missense_Mutation_p.R334Q|ATP2A3_ENST00000397035.3_Missense_Mutation_p.R334Q|ATP2A3_ENST00000352011.3_Missense_Mutation_p.R334Q	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	334					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CGGCAGGCTTCGCACGATGGC	0.667													31	94					0	0	0	0	T	3850779	C	T	3850779	3	4	52	1	0	0	0	0	1	0	0	0	1142	884	31	1	2265	1	ATP2A3	17	3850779	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08		3850779	77344431	190	10068											
INCA1	388324	broad.mit.edu	37	chr17	4892181	4892181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggaatccacagccctcttCgccaagcaccactggctcag	9	6	10	16	1	2	0	1	0	1	0	4	1	3	1	4	3	2	2	4	3	2	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:4892181C>T	ENST00000396829.2	-	8	1020	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	INCA1_ENST00000355025.3_Missense_Mutation_p.E137K|INCA1_ENST00000576820.1_Missense_Mutation_p.E152K|INCA1_ENST00000575780.1_Missense_Mutation_p.E137K|INCA1_ENST00000574617.1_Missense_Mutation_p.E152K	NM_001167986.1	NP_001161458.1	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	152						nucleus				upper_aerodigestive_tract(1)	1						CAGCCCTCTTCGCCAAGCACC	0.572													31	33					0	0	0	0	T	4892181	C	T	4892181	3	4	52	1	0	0	0	0	1	0	0	0	7785	893	31	1	264	1	INCA1	17	4892181	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	1041402	4892181	76303029	191	10069											
TP53	7157	broad.mit.edu	37	chr17	7578376	7578379	+	Frame_Shift_Del	DEL	CTAT	CTAT	-																															gccccagctgctcaccatcgCtatctgagcagcgctcatgg																								rs150607408		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:7578376_7578379delCTAT	ENST00000420246.2	-	5	683_686	c.551_554delATAG	c.(550-555)gcfs	p.DS184fs	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.DS184fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.DS184fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.DS184fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.DS184fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.DS184fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	184	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S185fs*62(3)|p.R174fs*24(3)|p.S185G(2)|p.?(2)|p.D184D(2)|p.V173fs*59(2)|p.R42fs*24(1)|p.S185T(1)|p.D184fs*2(1)|p.S185fs*63(1)|p.R81fs*24(1)|p.E180_S183del(1)|p.D184fs*62(1)|p.S185C(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.S185_D186delSD(1)|p.S185I(1)|p.S185N(1)|p.D184fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCACCATCGCTATCTGAGCAGCG	0.652		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			46	27	---	---	---	---					-	7578379	CTAT	-	7578376	7	5	52	1	0	1	0	1	0	0	0	0	16476	797	28	0	744	0	TP53	17	7578376	Frame_Shift_Del	DEL	CTAT	TCGA-BB-A5HY-01A-11D-A28R-08	2686195	7578376	73616834	192	10070											
MYH8	4626	broad.mit.edu	37	chr17	10297619	10297619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaggagctcctgttcggCgattttcctgcttctctctg	4	15	9	13	2	2	0	0	0	2	0	7	2	5	1	3	2	2	3	3	2	0	4	rs143448404	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:10297619C>T	ENST00000403437.2	-	35	5207	c.5113G>A	c.(5113-5115)Gcc>Acc	p.A1705T	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1705					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCTGTTCGGCGATTTTCCTG	0.572									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				15	94					0	0	0	0	T	10297619	C	T	10297619	3	4	52	1	0	0	0	0	1	0	0	0	10111	768	27	1	724	1	MYH8	17	10297619	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	2719243	10297619	70897591	193	10071											
ALKBH5	54890	broad.mit.edu	37	chr17	18088053	18088053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgacgtggacgagatccccGagtgggtgcaccagctggtg	7	6	17	11	4	0	1	0	0	0	1	1	5	1	2	3	3	2	2	3	3	0	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:18088053G>A	ENST00000399138.4	+	1	501	c.496G>A	c.(496-498)Gag>Aag	p.E166K	RP11-258F1.1_ENST00000583062.1_RNA|ALKBH5_ENST00000541285.1_Intron	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	166						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGAGATCCCCGAGTGGGTGCA	0.672													17	55					0	0	0	0	A	18088053	G	A	18088053	3	1	52	1	0	0	0	0	1	0	0	0	530	1059	37	1	498	1	ALKBH5	17	18088053	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	7790434	18088053	63107157	194	10072											
FLII	2314	broad.mit.edu	37	chr17	18156627	18156627	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcacctgcagagacttTcagggaccagctccaggttg	9	7	11	14	0	1	1	1	0	0	1	2	3	2	2	4	2	3	4	4	2	0	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:18156627T>C	ENST00000327031.4	-	9	1226	c.1001A>G	c.(1000-1002)gAa>gGa	p.E334G	FLII_ENST00000545457.2_Missense_Mutation_p.E280G|FLII_ENST00000379450.4_Missense_Mutation_p.E249G|FLII_ENST00000579294.1_Missense_Mutation_p.E323G|FLII_ENST00000578558.1_Missense_Mutation_p.E334G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	334	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCAGAGACTTTCAGGGACCAG	0.587													12	38					0	0	0	0	C	18156627	T	C	18156627	3	2	52	1	0	0	0	0	1	0	0	0	5970	1783	62	5	2896	5	FLII	17	18156627	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	68574	18156627	63038583	195	10073											
SUPT6H	6830	broad.mit.edu	37	chr17	27003266	27003266	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgatgaagaactggaggaaGagtatgagtatgaggatgat	16	9	15	1	0	0	7	0	5	0	2	0	10	0	10	0	3	1	2	0	3	5	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:27003266G>C	ENST00000314616.6	+	7	998	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E239Q	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	239	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACTGGAGGAAGAGTATGAGTA	0.473													35	137					0	0	0	0	C	27003266	G	C	27003266	3	2	52	1	0	0	0	0	1	0	0	0	15490	943	33	2	737	2	SUPT6H	17	27003266	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	8846639	27003266	54191944	196	10074											
CRLF3	51379	broad.mit.edu	37	chr17	29111242	29111242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatccaggatagaaaaatGagcatccaaagtaaagagaa	20	6	8	7	0	0	3	0	1	0	2	3	5	3	4	3	1	1	2	3	1	7	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:29111242G>A	ENST00000324238.6	-	8	1416	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L	CRLF3_ENST00000544695.1_Missense_Mutation_p.S315L	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	431					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				ATAGAAAAATGAGCATCCAAA	0.408													30	45					0	0	0	0	A	29111242	G	A	29111242	3	1	52	1	0	0	0	0	1	0	0	0	3918	1294	45	2	40	2	CRLF3	17	29111242	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	2107976	29111242	52083968	197	10075											
ATAD5	79915	broad.mit.edu	37	chr17	29192759	29192760	+	Frame_Shift_Ins	INS	-	-	CAAC																															tgctttggacagaaaagtatINScaacctcagactgccagtga																										TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:29192759_29192760insCAAC	ENST00000321990.4	+	11	3552_3553	c.3174_3175insCAAC	c.(3172-3177)taaaccfs	p.*T1058fs		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1058					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	p.Q1059*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CAGAAAAGTATCAACCTCAGAC	0.292													18	46	---	---	---	---					CAAC	29192760	-	CAAC	29192759	7	5	52	1	0	1	1	0	0	0	0	0	1080	1442	50	0	3216	0	ATAD5	17	29192759	Frame_Shift_Ins	INS	-	TCGA-BB-A5HY-01A-11D-A28R-08	81517	29192759	52002451	198	10076											
LHX1	3975	broad.mit.edu	37	chr17	35299544	35299544	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcggaggatgaagcagctGagcgccctgggcgcccggcg	7	3	19	12	5	0	2	0	2	0	0	0	5	0	4	2	4	4	2	2	4	1	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:35299544G>A	ENST00000254457.5	+	4	2134	c.723G>A	c.(721-723)ctG>ctA	p.L241L	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	241					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				TGAAGCAGCTGAGCGCCCTGG	0.726													7	9					0	0	0	0	A	35299544	G	A	35299544	2	1	52	1	0	0	0	0	0	0	0	1	8824	1277	45	2		2	LHX1	17	35299544	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	6106785	35299544	45895666	199	10077											
CSH1	1442	broad.mit.edu	37	chr17	61972625	61972625	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggccaagcgcttgggcactGttccctccctctctcattta	6	12	8	15	1	2	0	1	0	1	0	5	0	4	0	3	2	1	3	3	2	2	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:61972625G>C	ENST00000329882.8	-	4	734	c.664C>G	c.(664-666)Cag>Gag	p.Q222E	CSH1_ENST00000453363.3_Intron|CSH1_ENST00000316193.8_Intron			P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	0					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CTTGGGCACTGTTCCCTCCCT	0.547									Russell-Silver syndrome				47	110					0	0	0	0	C	61972625	G	C	61972625	3	2	52	1	0	0	0	0	1	0	0	0	3972	1386	48	4	246	4	CSH1	17	61972625	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	26673081	61972625	19222585	200	10078											
DDX5	1655	broad.mit.edu	37	chr17	62499306	62499306	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatttcaaaggacacttacTcttatttgatccacaatctt	13	16	3	9	0	3	1	1	1	2	0	4	2	4	2	1	1	1	0	1	1	5	6			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:62499306T>C	ENST00000225792.5	-	7	1211	c.810_splice	c.e7+1	p.R270_splice	DDX5_ENST00000578804.1_Splice_Site_p.R270_splice|DDX5_ENST00000450599.2_Splice_Site_p.R191_splice	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	270	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GGACACTTACTCTTATTTGAT	0.378			T	ETV4	prostate								83	82					0	0	0	0	C	62499306	T	C	62499306	5	2	52	1	0	0	0	0	0	0	1	0	4399	1565	54	5	1062	5	DDX5	17	62499306	Splice_Site	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	526681	62499306	18695904	201	10079											
CACNG5	27091	broad.mit.edu	37	chr17	64881325	64881325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgccttgctcaagtgccccGactatgatcagatgtcctct	7	11	8	15	2	3	2	2	1	1	1	4	3	4	2	5	0	2	1	5	0	2	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:64881325G>A	ENST00000533854.1	+	6	1033	c.796G>A	c.(796-798)Gac>Aac	p.D266N	CACNG5_ENST00000307139.3_Missense_Mutation_p.D266N			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	266				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CAAGTGCCCCGACTATGATCA	0.642													25	83					0	0	0	0	A	64881325	G	A	64881325	3	1	52	1	0	0	0	0	1	0	0	0	2585	1058	37	1	1131	1	CACNG5	17	64881325	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	2382019	64881325	16313885	202	10080											
KCNJ2	3759	broad.mit.edu	37	chr17	68171263	68171263	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccaccatggcagttgcaaAtggctttgggaacgggaaga	11	7	15	8	1	0	1	0	0	0	1	0	3	0	3	2	5	2	4	2	5	3	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:68171263A>G	ENST00000243457.3	+	2	466	c.83A>G	c.(82-84)aAt>aGt	p.N28S	KCNJ2_ENST00000535240.1_Missense_Mutation_p.N28S	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	28					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GCAGTTGCAAATGGCTTTGGG	0.517													19	64					0	0	0	0	G	68171263	A	G	68171263	3	3	52	1	0	0	0	0	1	0	0	0	8104	101	4	5	85	5	KCNJ2	17	68171263	Missense_Mutation	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	3289938	68171263	13023947	203	10081											
LAMA3	3909	broad.mit.edu	37	chr18	21438783	21438783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtcacagctcacataagcGaaggactaaggtatgcattg	14	9	10	8	1	2	0	2	0	0	0	2	2	2	1	0	2	3	3	0	2	4	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr18:21438783G>A	ENST00000313654.9	+	34	4653	c.4412G>A	c.(4411-4413)cGa>cAa	p.R1471Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1471Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1471					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACATAAGCGAAGGACTAAG	0.443													58	40					0	0	0	0	A	21438783	G	A	21438783	3	1	52	1	0	0	0	0	1	0	0	0	8660	1058	37	1	4546	1	LAMA3	18	21438783	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08		21438783	56638465	204	10082											
DSEL	92126	broad.mit.edu	37	chr18	65180985	65180985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccagaaaaacatactgtgtGacggatttagctgtgtagct	12	11	11	7	1	0	2	0	1	0	1	0	3	0	3	1	1	4	3	1	1	5	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr18:65180985G>A	ENST00000310045.7	-	2	2364	c.891C>T	c.(889-891)gtC>gtT	p.V297V	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	287						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CATACTGTGTGACGGATTTAG	0.383													16	29					0	0	0	0	A	65180985	G	A	65180985	2	1	52	1	0	0	0	0	0	0	0	1	4811	1277	45	2		2	DSEL	18	65180985	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	43742202	65180985	12896263	205	10083											
ZNF516	9658	broad.mit.edu	37	chr18	74154314	74154314	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgttctccacgcaggcctCgccgctgccgggcccctgcg	2	6	13	20	6	1	0	0	0	1	0	3	0	1	0	7	2	2	3	7	2	0	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr18:74154314C>A	ENST00000443185.2	-	3	1014	c.697G>T	c.(697-699)Gag>Tag	p.E233*	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ACGCAGGCCTCGCCGCTGCCG	0.687													4	4					1	1	1	0	A	74154314	C	A	74154314	4	1	52	1	0	0	0	0	0	1	0	0	18055	893	31	3	2815	3	ZNF516	18	74154314	Nonsense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	8973329	74154314	3922934	206	10084											
REEP6	92840	broad.mit.edu	37	chr19	1496452	1496452	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccggaataaccaggaacGgtgggtgctcgcaggcgcct	8	5	16	12	5	0	0	0	0	0	0	1	2	0	2	3	6	3	2	3	6	3	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:1496452G>C	ENST00000233596.3	+	4	621	c.517_splice	c.e4+1	p.V173_splice		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	173						integral to membrane				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACCAGGAACGGTGGGTGCTC	0.662													21	28					0	0	0	0	C	1496452	G	C	1496452	5	2	52	1	0	0	0	0	0	0	1	0	13291	1130	39	3	531	3	REEP6	19	1496452	Splice_Site	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08		1496452	57632531	207	10085											
MEX3D	399664	broad.mit.edu	37	chr19	1556195	1556195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggcggccgtccccaccggGgcaccgggaccctccgcgcc	3	2	16	20	6	0	0	0	0	0	0	2	1	2	1	8	6	0	1	8	6	0	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:1556195G>A	ENST00000402693.4	-	2	1322	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	MEX3D_ENST00000388824.6_Silent_p.A441A	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	441					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		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)		TCCCCACCGGGGCACCGGGAC	0.776													3	8					0	0	0	0	A	1556195	G	A	1556195	2	1	52	1	0	0	0	0	0	0	0	1	9581	1219	43	4		4	MEX3D	19	1556195	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	59743	1556195	57572788	208	10086											
AP3D1	8943	broad.mit.edu	37	chr19	2117225	2117225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccccgtatccttacccttCggggactggaaccttcttct	6	12	7	16	2	2	0	0	0	2	0	4	2	3	2	5	3	2	1	5	3	3	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:2117225C>T	ENST00000355272.6	-	16	2061	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	AP3D1_ENST00000356926.4_Missense_Mutation_p.E528K|AP3D1_ENST00000345016.5_Missense_Mutation_p.E619K|AP3D1_ENST00000350812.6_Missense_Mutation_p.E450K	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	619					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CCTTACCCTTCGGGGACTGGA	0.642													9	28					0	0	0	0	T	2117225	C	T	2117225	3	4	52	1	0	0	0	0	1	0	0	0	747	893	31	1	1824	1	AP3D1	19	2117225	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	561030	2117225	57011758	209	10087											
DOCK6	57572	broad.mit.edu	37	chr19	11323910	11323910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggcgctggcgtgcgtgCggatggtgctgatgcggctg	3	8	21	9	6	0	1	0	1	0	0	0	3	0	2	0	5	4	3	0	5	0	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:11323910C>T	ENST00000294618.7	-	35	4444	c.4433G>A	c.(4432-4434)cGc>cAc	p.R1478H	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.R817H	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1478					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGCGTGCGTGCGGATGGTGCT	0.642													22	52					0	0	0	0	T	11323910	C	T	11323910	3	4	52	1	0	0	0	0	1	0	0	0	4727	768	27	1	1766	1	DOCK6	19	11323910	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	9206685	11323910	47805073	210	10088											
ZNF440	126070	broad.mit.edu	37	chr19	11942632	11942633	+	Frame_Shift_Del	DEL	TA	TA	-																															agcattccattgtctcagatTatatcttatccatgaaagaa																										TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:11942632_11942633delTA	ENST00000304060.5	+	4	805_806	c.641_642delTA	c.(640-642)tfs	p.L214fs		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGTCTCAGATTATATCTTATCC	0.361													24	41	---	---	---	---					-	11942633	TA	-	11942632	7	5	52	1	0	1	0	1	0	0	0	0	18008	1764	61	0	655	0	ZNF440	19	11942632	Frame_Shift_Del	DEL	TA	TCGA-BB-A5HY-01A-11D-A28R-08	618722	11942632	47186351	211	10089											
ZNF844	284391	broad.mit.edu	37	chr19	12186814	12186814	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaaaagccttcagatggttCcattcctttcaaatacatga	13	12	7	9	0	2	2	2	1	0	1	4	3	4	3	3	2	2	1	3	2	4	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:12186814C>T	ENST00000439326.3	+	4	1054	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCAGATGGTTCCATTCCTTTC	0.403													6	11					0	0	0	0	T	12186814	C	T	12186814	2	4	52	1	0	0	0	0	0	0	0	1	18283	854	30	2		2	ZNF844	19	12186814	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	244182	12186814	46942169	212	10090											
MAST1	22983	broad.mit.edu	37	chr19	12981863	12981863	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccccagagtggcaacaaggTagcagtgaccacaacgccct	12	4	10	15	1	0	2	0	1	0	1	0	2	0	2	4	2	3	3	4	2	4	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:12981863T>A	ENST00000251472.4	+	24	3179	c.3140T>A	c.(3139-3141)gTa>gAa	p.V1047E		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1047	PDZ.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGCAACAAGGTAGCAGTGACC	0.602													42	115					0	0	0	0	A	12981863	T	A	12981863	3	1	52	1	0	0	0	0	1	0	0	0	9393	1638	57	5	3234	5	MAST1	19	12981863	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	795049	12981863	46147120	213	10091											
CLEC17A	388512	broad.mit.edu	37	chr19	14705352	14705352	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagtgctccaccaagacctCcaagggcaggtgagttgggg	10	6	14	11	0	0	2	0	1	0	1	2	2	2	2	4	4	1	3	4	4	3	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:14705352C>A	ENST00000547437.1	+	5	378	c.301C>A	c.(301-303)Cca>Aca	p.P101T	CLEC17A_ENST00000397439.2_Missense_Mutation_p.P84T|CLEC17A_ENST00000417570.1_Missense_Mutation_p.P101T	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	101						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										ACCAAGACCTCCAAGGGCAGG	0.582													5	12					0.184627	0.186505	1	0	A	14705352	C	A	14705352	3	1	52	1	0	0	0	0	1	0	0	0	3531	855	30	2	264	2	CLEC17A	19	14705352	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	1723489	14705352	44423631	214	10092											
BRD4	23476	broad.mit.edu	37	chr19	15350601	15350601	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaccaccacgaggggcTggggctggaccacggaggca	8	4	15	14	2	1	0	1	0	0	0	1	3	1	2	4	7	0	3	4	7	0	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:15350601T>C	ENST00000263377.2	-	16	3535	c.3314A>G	c.(3313-3315)cAg>cGg	p.Q1105R		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1105					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CACGAGGGGCTGGGGCTGGAC	0.701			T	C15orf55	lethal midline carcinoma of young people								17	40					0	0	0	0	C	15350601	T	C	15350601	3	2	52	1	0	0	0	0	1	0	0	0	1512	1580	55	5	794	5	BRD4	19	15350601	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	645249	15350601	43778382	215	10093											
MAP1S	55201	broad.mit.edu	37	chr19	17838760	17838760	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccaagacagcacggcaaaCggagaacgtcagccgcaccc	13	1	10	17	4	1	2	1	0	0	2	1	3	1	2	4	2	4	3	4	2	3	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:17838760C>G	ENST00000324096.4	+	5	2718	c.2567C>G	c.(2566-2568)aCg>aGg	p.T856R	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.T830R	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	856	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCACGGCAAACGGAGAACGTC	0.667													10	28					0	0	0	0	G	17838760	C	G	17838760	3	3	52	1	0	0	0	0	1	0	0	0	9303	536	19	3	2585	3	MAP1S	19	17838760	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	2488159	17838760	41290223	216	10094											
FKBP8	23770	broad.mit.edu	37	chr19	18648530	18648530	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaggccgccaggttgttcaGacacttcaccttcaactgca	9	9	9	14	2	3	1	3	0	0	1	3	2	3	1	3	2	2	3	3	2	1	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:18648530G>C	ENST00000597960.2	-	6	946	c.826C>G	c.(826-828)Ctg>Gtg	p.L276V	FKBP8_ENST00000544835.2_Missense_Mutation_p.L116V|FKBP8_ENST00000453489.2_Missense_Mutation_p.L304V|FKBP8_ENST00000222308.3_Missense_Mutation_p.L276V|FKBP8_ENST00000596558.1_Missense_Mutation_p.L275V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	275					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						AGGTTGTTCAGACACTTCACC	0.622													31	54					0	0	0	0	C	18648530	G	C	18648530	3	2	52	1	0	0	0	0	1	0	0	0	5959	933	33	2	431	2	FKBP8	19	18648530	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	809770	18648530	40480453	217	10095											
SYMPK	8189	broad.mit.edu	37	chr19	46332459	46332459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctggccaggatctttatgCggacctggtgggagggtgag	6	9	19	7	1	1	1	0	1	1	0	1	4	1	4	2	7	1	1	2	7	1	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:46332459C>T	ENST00000245934.7	-	14	1998	c.1754G>A	c.(1753-1755)cGc>cAc	p.R585H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	585					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GATCTTTATGCGGACCTGGTG	0.627													3	43					0	0	0	0	T	46332459	C	T	46332459	3	4	52	1	0	0	0	0	1	0	0	0	15530	768	27	1	2126	1	SYMPK	19	46332459	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	27683929	46332459	12796524	218	10096											
ZNF665	79788	broad.mit.edu	37	chr19	53669336	53669336	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagctgattttcaataTgcctgtttcctgcagccctt	7	15	6	13	0	1	1	1	1	0	0	3	1	3	1	4	0	4	3	4	0	3	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:53669336T>C	ENST00000600412.1	-	2	327	c.212A>G	c.(211-213)cAt>cGt	p.H71R	ZNF665_ENST00000396424.3_Missense_Mutation_p.H136R			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ATTTTCAATATGCCTGTTTCC	0.373													55	31					0	0	0	0	C	53669336	T	C	53669336	3	2	52	1	0	0	0	0	1	0	0	0	18168	1464	51	5	1633	5	ZNF665	19	53669336	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	7336877	53669336	5459647	219	10097											
ZNF761	388561	broad.mit.edu	37	chr19	53958684	53958684	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgtgacaaagctttccAtttcaaatcaatacttgaaa	17	12	5	7	0	2	3	2	2	0	1	3	3	3	3	1	0	2	1	1	0	6	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:53958684A>G	ENST00000454407.1	+	0	1376							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AAAGCTTTCCATTTCAAATCA	0.388													4	112					0	0	0	0	G	53958684	A	G	53958684	1	3	52	0	1	0	0	0	0	0	0	0	18230	217	8	5		5	ZNF761	19	53958684	RNA	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	289348	53958684	5170299	220	10098											
NLRP11	204801	broad.mit.edu	37	chr19	56320181	56320181	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgttttgaaagatgcgctGaacactcaacttaagtgtcc	11	14	8	8	1	1	3	1	2	0	1	2	3	2	3	1	0	3	2	1	0	4	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:56320181G>C	ENST00000443188.1	-	5	2505	c.1795C>G	c.(1795-1797)Cag>Gag	p.Q599E	NLRP11_ENST00000589824.2_Missense_Mutation_p.Q599E|NLRP11_ENST00000360133.3_Missense_Mutation_p.Q599E|NLRP11_ENST00000592953.1_Missense_Mutation_p.Q500E|NLRP11_ENST00000589093.1_Missense_Mutation_p.Q599E	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	599							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)		AAGATGCGCTGAACACTCAAC	0.408													41	93					0	0	0	0	C	56320181	G	C	56320181	3	2	52	1	0	0	0	0	1	0	0	0	10543	1299	45	2	1338	2	NLRP11	19	56320181	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	2361497	56320181	2808802	221	10099											
ZNF264	9422	broad.mit.edu	37	chr19	57705295	57705295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcaccaaggaggagtgggGgcagctggacctagctcagc	9	7	15	10	0	2	0	2	0	0	0	2	3	2	3	2	5	3	3	2	5	2	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:57705295G>A	ENST00000263095.6	+	2	500	c.86G>A	c.(85-87)gGg>gAg	p.G29E	ZNF264_ENST00000536056.1_Missense_Mutation_p.G29E|ZNF264_ENST00000599653.1_Missense_Mutation_p.G29E|ZNF264_ENST00000600531.1_Missense_Mutation_p.G29E	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GAGGAGTGGGGGCAGCTGGAC	0.537													72	157					0	0	0	0	A	57705295	G	A	57705295	3	1	52	1	0	0	0	0	1	0	0	0	17899	1232	43	4	92	4	ZNF264	19	57705295	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	1385114	57705295	1423688	222	10100											
ZNF548	147694	broad.mit.edu	37	chr19	57905567	57905567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccctcagggtcccctggcGatggcagaaatggaccctac	8	8	11	14	1	1	1	1	0	0	1	3	3	3	2	4	4	1	1	4	4	2	2			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:57905567G>A	ENST00000597410.1	+	1	17	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	ZNF548_ENST00000366197.5_Intron|ZNF548_ENST00000336128.7_Silent_p.A9A|AC003002.6_ENST00000600421.1_3'UTR|AC003002.6_ENST00000596400.1_Silent_p.A9A|ZNF548_ENST00000598895.1_Silent_p.A9A|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000597400.1_Silent_p.A9A																							GTCCCCTGGCGATGGCAGAAA	0.537													6	13					0	0	0	0	A	57905567	G	A	57905567	3	1	52	1	0	0	0	0	1	0	0	0	18075	1045	37	1	33	1	ZNF548	19	57905567	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	200272	57905567	1223416	223	10101											
ZNF544	27300	broad.mit.edu	37	chr19	58762729	58762729	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgatgggagcttcaggttCccggtctgggacttcacata	7	11	13	10	1	3	1	2	1	1	0	4	3	4	3	1	4	1	3	1	4	1	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:58762729C>T	ENST00000333581.5	+	6	534	c.300C>T	c.(298-300)ttC>ttT	p.F100F	ZNF544_ENST00000594384.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596652.1_Intron|ZNF544_ENST00000599953.1_Intron|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000269829.4_Intron|ZNF544_ENST00000415203.2_Intron|ZNF544_ENST00000596825.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599227.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	0					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)		gcttcaggttcccggtctggg	0.448													14	62					0	0	0	0	T	58762729	C	T	58762729	2	4	52	1	0	0	0	0	0	0	0	1	18072	870	30	2		2	ZNF544	19	58762729	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	857162	58762729	366254	224	10102											
FLRT3	23767	broad.mit.edu	37	chr20	14306375	14306375	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattggtaacatctgaaaaGaagtttccctgatttccagg	12	14	8	7	0	1	3	0	2	1	1	3	3	3	3	2	2	1	2	2	2	5	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:14306375G>C	ENST00000378053.3	-	2	2034	c.1778C>G	c.(1777-1779)tCt>tGt	p.S593C	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S593C|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	593					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.S593Y(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CATCTGAAAAGAAGTTTCCCT	0.398													16	125					0	0	0	0	C	14306375	G	C	14306375	3	2	52	1	0	0	0	0	1	0	0	0	5985	942	33	2	175	2	FLRT3	20	14306375	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08		14306375	48719145	225	10103											
XRN2	22803	broad.mit.edu	37	chr20	21324757	21324757	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctcctaatacgagtttCacatctgatggctccccgtc	9	13	6	13	2	3	1	1	1	2	0	6	2	4	1	3	1	1	2	3	1	3	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:21324757C>A	ENST00000377191.3	+	16	1535	c.1440C>A	c.(1438-1440)ttC>ttA	p.F480L	XRN2_ENST00000430571.2_Missense_Mutation_p.F404L|XRN2_ENST00000539513.1_Missense_Mutation_p.F426L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	480					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						ATACGAGTTTCACATCTGATG	0.418													55	81					4.25531e-23	4.78522e-23	1	0	A	21324757	C	A	21324757	3	1	52	1	0	0	0	0	1	0	0	0	17556	825	29	2	1502	2	XRN2	20	21324757	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	7018382	21324757	41700763	226	10104											
GGTLC1	92086	broad.mit.edu	37	chr20	23966576	23966576	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccgtcctggcccaccaTgatcgtcgggcacatggacg	6	7	13	15	4	0	1	0	1	0	0	3	2	1	2	4	4	0	1	4	4	0	0			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:23966576T>C	ENST00000335694.4	-	4	544	c.340A>G	c.(340-342)Atg>Gtg	p.M114V	GGTLC1_ENST00000278765.4_Missense_Mutation_p.M114V|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M114V	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	114							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TGGCCCACCATGATCGTCGGG	0.662													31	189					0	0	0	0	C	23966576	T	C	23966576	3	2	52	1	0	0	0	0	1	0	0	0	6416	1464	51	5	349	5	GGTLC1	20	23966576	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08	2641819	23966576	39058944	227	10105											
DNMT3B	1789	broad.mit.edu	37	chr20	31375191	31375191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctagcccaggacagccaGcaggggggcatggagtcccc	8	3	15	15	1	0	0	0	0	0	0	1	2	1	2	5	5	3	2	5	5	1	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:31375191G>T	ENST00000328111.2	+	6	909	c.588G>T	c.(586-588)caG>caT	p.Q196H	DNMT3B_ENST00000456297.2_Missense_Mutation_p.Q120H|DNMT3B_ENST00000348286.2_Missense_Mutation_p.Q196H|DNMT3B_ENST00000201963.3_Missense_Mutation_p.Q208H|DNMT3B_ENST00000375623.4_Missense_Mutation_p.Q154H|DNMT3B_ENST00000353855.2_Missense_Mutation_p.Q196H|DNMT3B_ENST00000443239.3_Missense_Mutation_p.Q154H|DNMT3B_ENST00000344505.4_Missense_Mutation_p.Q196H	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	196	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGACAGCCAGCAGGGGGGCA	0.627													39	53					4.67007e-22	5.23188e-22	1	0	T	31375191	G	T	31375191	3	4	52	1	0	0	0	0	1	0	0	0	4713	962	34	4	646	4	DNMT3B	20	31375191	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	7408615	31375191	31650329	228	10106											
RBM39	9584	broad.mit.edu	37	chr20	34292657	34292657	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattgatgggcacttcacAtacacattgccctacagaaa	14	9	7	11	0	1	2	1	1	0	1	1	2	1	2	1	1	3	2	1	1	4	5			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:34292657A>G	ENST00000361162.6	-	16	1791	c.1407T>C	c.(1405-1407)taT>taC	p.Y469Y	RBM39_ENST00000407261.4_Silent_p.Y318Y|RBM39_ENST00000528062.3_Silent_p.Y453Y|RBM39_ENST00000253363.6_Silent_p.Y475Y	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	475	Interaction with NCOA6 (By similarity).|RRM 3.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GGCACTTCACATACACATTGC	0.373													21	145					0	0	0	0	G	34292657	A	G	34292657	2	3	52	1	0	0	0	0	0	0	0	1	13215	224	8	5		5	RBM39	20	34292657	Silent	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	2917466	34292657	28732863	229	10107											
NCOA3	8202	broad.mit.edu	37	chr20	46252677	46252677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgcagtggtgaaaaaCggagacgggagcaggaaagt	14	6	15	6	2	0	2	0	1	0	1	0	5	0	4	1	4	4	2	1	4	4	1	rs145292442		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:46252677C>T	ENST00000372004.3	+	4	322	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	NCOA3_ENST00000371997.3_Missense_Mutation_p.R36W|NCOA3_ENST00000371998.3_Missense_Mutation_p.R36W|NCOA3_ENST00000341724.6_Missense_Mutation_p.R36W	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	36					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGTGAAAAACGGAGACGGGA	0.398													16	44					0	0	0	0	T	46252677	C	T	46252677	3	4	52	1	0	0	0	0	1	0	0	0	10300	527	19	1	112	1	NCOA3	20	46252677	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	11960020	46252677	16772843	230	10108											
NFATC2	4773	broad.mit.edu	37	chr20	50133394	50133394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtctcatagtgggcccGgtgatgtggcttgggctgca	4	13	15	9	1	2	1	1	1	2	0	3	1	2	1	1	4	1	3	1	4	1	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:50133394G>A	ENST00000371564.3	-	3	1480	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	NFATC2_ENST00000414705.1_Missense_Mutation_p.R401W|NFATC2_ENST00000396009.3_Missense_Mutation_p.R421W	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	421	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TAGTGGGCCCGGTGATGTGGC	0.587													6	86					0	0	0	0	A	50133394	G	A	50133394	3	1	52	1	0	0	0	0	1	0	0	0	10432	1115	39	1	1596	1	NFATC2	20	50133394	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	3880717	50133394	12892126	231	10109											
BTG3	10950	broad.mit.edu	37	chr21	18971140	18971140	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcattgtttttctctccaTacctaagaataaaattaaaa	16	15	3	7	0	1	1	0	0	1	1	3	1	2	1	2	0	2	2	2	0	7	7			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr21:18971140T>A	ENST00000339775.6	-	5	599	c.446A>T	c.(445-447)tAt>tTt	p.Y149F	BTG3_ENST00000348354.6_Missense_Mutation_p.Y105F	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	105	Poly-Ser.				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TTTCTCTCCATACCTAAGAAT	0.348													5	12					0	0	0	0	A	18971140	T	A	18971140	3	1	52	1	0	0	0	0	1	0	0	0	1564	1406	49	5	452	5	BTG3	21	18971140	Missense_Mutation	SNP	T	TCGA-BB-A5HY-01A-11D-A28R-08		18971140	29158755	232	10110											
NCAM2	4685	broad.mit.edu	37	chr21	22656566	22656566	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcctcaaggagagaagatAatttcaacacagagggtagt	17	8	10	6	0	2	3	2	0	0	3	3	5	3	4	1	2	1	1	1	2	6	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr21:22656566A>T	ENST00000400546.1	+	3	432	c.183A>T	c.(181-183)atA>atT	p.I61I	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Silent_p.I86I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	61	Ig-like C2-type 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GAGAGAAGATAATTTCAACAC	0.363													13	47					0	0	0	0	T	22656566	A	T	22656566	2	4	52	1	0	0	0	0	0	0	0	1	10273	352	13	5		5	NCAM2	21	22656566	Silent	SNP	A	TCGA-BB-A5HY-01A-11D-A28R-08	3685426	22656566	25473329	233	10111											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253521	32253521	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggggctgacatccactaGagacaaaggtgagcggccgg	11	4	15	11	2	0	3	0	2	0	1	1	4	1	3	3	5	1	1	3	5	2	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr21:32253521G>C	ENST00000332378.4	-	1	353	c.323C>G	c.(322-324)tCt>tGt	p.S108C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	108						keratin filament	structural molecule activity	p.S108C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACATCCACTAGAGACAAAGGT	0.562													23	56					0	0	0	0	C	32253521	G	C	32253521	3	2	52	1	0	0	0	0	1	0	0	0	8569	942	33	2	172	2	KRTAP11-1	21	32253521	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	9596955	32253521	15876374	234	10112											
CYB5R3	1727	broad.mit.edu	37	chr22	43026970	43026970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaccaggtttccatcaattCgagccgagaggtagatgtgc	10	9	12	10	3	1	2	1	0	0	2	3	5	2	2	3	2	2	2	3	2	2	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr22:43026970C>T	ENST00000361740.4	-	4	349	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	CYB5R3_ENST00000407623.3_Missense_Mutation_p.R61Q|CYB5R3_ENST00000402438.1_Missense_Mutation_p.R61Q|CYB5R3_ENST00000352397.5_Missense_Mutation_p.R84Q|CYB5R3_ENST00000407332.1_Missense_Mutation_p.R61Q|CYB5R3_ENST00000396303.3_Missense_Mutation_p.R61Q	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	84	FAD-binding FR-type.		T -> S (in dbSNP:rs1800457).		blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	TCCATCAATTCGAGCCGAGAG	0.587													10	53					0	0	0	0	T	43026970	C	T	43026970	3	4	52	1	0	0	0	0	1	0	0	0	4160	884	31	1	678	1	CYB5R3	22	43026970	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08		43026970	8277596	235	10113											
DMD	1756	broad.mit.edu	37	chrX	32305785	32305785	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatgaataatgtcaatccGacctgagctttgttgtagac	11	13	9	8	1	1	3	1	2	0	1	2	4	2	3	2	0	1	4	2	0	5	5	rs140791274	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:32305785G>T	ENST00000357033.4	-	43	6357	c.6151C>A	c.(6151-6153)Cgg>Agg	p.R2051R	DMD_ENST00000378677.2_Silent_p.R2047R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2051					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R2047W(1)|p.R2046W(1)|p.R2051W(1)|p.R710W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGTCAATCCGACCTGAGCTT	0.348													6	13					0.00116845	0.00120068	1	0	T	32305785	G	T	32305785	2	4	52	1	0	0	0	0	0	0	0	1	4617	1057	37	3		3	DMD	23	32305785	Silent	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08		32305785	122964775	236	10114											
USP9X	8239	broad.mit.edu	37	chrX	41007694	41007694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgtcgtcttgcagaagatGataaagatggtgtgatggca	12	11	13	5	2	1	5	0	2	1	3	2	5	1	5	0	2	2	2	0	2	4	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:41007694G>A	ENST00000324545.7	+	12	2125	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	USP9X_ENST00000378308.2_Missense_Mutation_p.D498N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	498					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGCAGAAGATGATAAAGATGG	0.433													32	40					0	0	0	0	A	41007694	G	A	41007694	3	1	52	1	0	0	0	0	1	0	0	0	17186	1290	45	2	1534	2	USP9X	23	41007694	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	8701909	41007694	114262866	237	10115											
DDX3X	1654	broad.mit.edu	37	chrX	41205842	41205842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atattgaagaatatgtacatCgtattggtcgtacgggacgt	12	13	11	5	4	0	2	0	1	0	1	2	3	0	3	0	2	2	3	0	2	7	7			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:41205842C>T	ENST00000399959.2	+	14	2437	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.R512C|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	528	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	p.R528C(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						ATATGTACATCGTATTGGTCG	0.368										HNSCC(61;0.18)			72	33					0	0	0	0	T	41205842	C	T	41205842	3	4	52	1	0	0	0	0	1	0	0	0	4390	884	31	1	1636	1	DDX3X	23	41205842	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	198148	41205842	114064718	238	10116											
ZNF81	347344	broad.mit.edu	37	chrX	47774931	47774931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttgctcctcaaaaaattCatactgtggaaaaacctcat	14	13	4	10	0	4	0	3	0	1	0	5	1	5	1	2	1	3	1	2	1	6	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:47774931C>T	ENST00000376954.1	+	6	1254	c.886C>T	c.(886-888)Cat>Tat	p.H296Y	ZNF81_ENST00000338637.7_Missense_Mutation_p.H296Y			P51508	ZNF81_HUMAN	zinc finger protein 81	296						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCAAAAAATTCATACTGTGGA	0.358													14	20					0	0	0	0	T	47774931	C	T	47774931	3	4	52	1	0	0	0	0	1	0	0	0	18267	826	29	2	900	2	ZNF81	23	47774931	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	6569089	47774931	107495629	239	10117											
TSPYL2	64061	broad.mit.edu	37	chrX	53114239	53114239	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccacagctttttcagctgGttctcaaaccatagcctccc	9	11	6	15	0	2	0	2	0	1	0	4	0	3	0	4	1	5	3	4	1	2	4			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:53114239G>A	ENST00000375442.4	+	4	1233	c.1101G>A	c.(1099-1101)tgG>tgA	p.W367*		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	367					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						TTTTCAGCTGGTTCTCAAACC	0.617													9	34					0	0	0	0	A	53114239	G	A	53114239	4	1	52	1	0	0	0	0	0	1	0	0	16755	1270	44	4	1115	4	TSPYL2	23	53114239	Nonsense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	5339308	53114239	102156321	240	10118											
HEPH	9843	broad.mit.edu	37	chrX	65413405	65413405	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcacttactggaaagtgCgatatgaagcctttcaagat	12	10	12	7	1	1	2	1	1	0	1	1	4	1	3	1	3	3	1	1	3	5	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:65413405C>T	ENST00000519389.1	+	8	1635	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	HEPH_ENST00000441993.2_Nonsense_Mutation_p.R435*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.R435*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.R165*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.R432*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.R435*			Q9BQS7	HEPH_HUMAN	hephaestin	432	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGGAAAGTGCGATATGAAGC	0.368													3	16					0	0	0	0	T	65413405	C	T	65413405	4	4	52	1	0	0	0	0	0	1	0	0	7104	760	27	1	1486	1	HEPH	23	65413405	Nonsense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	12299166	65413405	89857155	241	10119											
OPHN1	4983	broad.mit.edu	37	chrX	67430102	67430102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttcttccatctcttcccggGtactggagaaatgatttctt	7	16	8	10	1	3	2	0	1	3	1	6	3	5	2	2	2	1	2	2	2	2	6			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:67430102G>A	ENST00000355520.5	-	9	1366	c.725C>T	c.(724-726)aCc>aTc	p.T242I	OPHN1_ENST00000540071.1_Missense_Mutation_p.T242I	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	242					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CTCTTCCCGGGTACTGGAGAA	0.378													14	7					0	0	0	0	A	67430102	G	A	67430102	3	1	52	1	0	0	0	0	1	0	0	0	10946	1261	44	4	1747	4	OPHN1	23	67430102	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	2016697	67430102	87840458	242	10120											
BHLHB9	80823	broad.mit.edu	37	chrX	102005359	102005359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatccaactgcagccaGagacatgatcaatatgaagg	17	7	9	8	0	1	4	1	3	0	1	2	5	2	4	2	1	3	1	2	1	6	1			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:102005359G>T	ENST00000372735.1	+	4	2021	c.1436G>T	c.(1435-1437)aGa>aTa	p.R479I	BHLHB9_ENST00000447531.1_Missense_Mutation_p.R479I|BHLHB9_ENST00000361229.4_Missense_Mutation_p.R479I|BHLHB9_ENST00000457056.1_Missense_Mutation_p.R479I|BHLHB9_ENST00000448867.1_Missense_Mutation_p.R479I			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	479						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACTGCAGCCAGAGACATGATC	0.363													40	42					1.57019e-19	1.7525e-19	1	0	T	102005359	G	T	102005359	3	4	52	1	0	0	0	0	1	0	0	0	1425	942	33	2	1438	2	BHLHB9	23	102005359	Missense_Mutation	SNP	G	TCGA-BB-A5HY-01A-11D-A28R-08	34575257	102005359	53265201	243	10121											
FHL1	2273	broad.mit.edu	37	chrX	135289240	135289240	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccaagtgccttcacccCttggccaatgagacctttgt	7	12	9	13	0	1	1	1	1	0	1	1	2	1	1	6	1	2	0	6	1	2	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:135289240C>A	ENST00000543669.1	+	3	933	c.222C>A	c.(220-222)ccC>ccA	p.P74P	FHL1_ENST00000370676.3_Silent_p.P90P|FHL1_ENST00000539015.1_Silent_p.P103P|FHL1_ENST00000345434.3_Silent_p.P74P|FHL1_ENST00000370683.1_Silent_p.P90P|FHL1_ENST00000394153.2_Silent_p.P74P|FHL1_ENST00000394155.2_Silent_p.P74P|FHL1_ENST00000370690.3_Silent_p.P74P|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000535737.1_Silent_p.P74P	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	74	LIM zinc-binding 1.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GCCTTCACCCCTTGGCCAATG	0.572													4	192					1	1	1	0	A	135289240	C	A	135289240	2	1	52	1	0	0	0	0	0	0	0	1	5923	668	24	4		4	FHL1	23	135289240	Silent	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	33283881	135289240	19981320	244	10122											
TMEM185A	84548	broad.mit.edu	37	chrX	148693015	148693015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccagttccaactgaggctCcaacaatgaccattaacttc	12	10	5	14	0	0	2	0	2	0	0	4	2	3	2	4	1	3	2	4	1	4	3			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:148693015C>G	ENST00000316916.8	-	2	474	c.170G>C	c.(169-171)gGa>gCa	p.G57A	TMEM185A_ENST00000507237.1_Missense_Mutation_p.G57A|TMEM185A_ENST00000536359.1_Intron	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	57						integral to membrane				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AACTGAGGCTCCAACAATGAC	0.468													207	203					0	0	0	0	G	148693015	C	G	148693015	3	3	52	1	0	0	0	0	1	0	0	0	16201	855	30	2	906	2	TMEM185A	23	148693015	Missense_Mutation	SNP	C	TCGA-BB-A5HY-01A-11D-A28R-08	13403775	148693015	6577545	245	10123											
MRTO4	51154	broad.mit.edu	37	chr1	19585249	19585249	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gattcacagtcgggaaggttCcagcagatgggagacgactt	11	8	14	8	2	1	2	1	0	0	2	3	6	2	3	1	3	1	2	1	3	1	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:19585249C>G	ENST00000330263.4	+	8	942	c.645C>G	c.(643-645)ttC>ttG	p.F215L		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	215					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGAAGGTTCCAGCAGATGG	0.488													11	81					0	0	0	0	G	19585249	C	G	19585249	3	3	53	1	0	0	0	0	1	0	0	0	9922	854	30	2	675	2	MRTO4	1	19585249	Missense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08		19585249	229665372	1	10124											
SFN	2810	broad.mit.edu	37	chr1	27190210	27190210	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcccaccaaccccatccgCctgggcctggccctgaactt	6	6	8	21	2	0	1	0	1	0	0	1	1	1	1	9	2	2	0	9	2	2	1			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:27190210C>T	ENST00000339276.4	+	1	578	c.507C>T	c.(505-507)cgC>cgT	p.R169R		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	169					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		ACCCCATCCGCCTGGGCCTGG	0.612													58	119					0	0	0	0	T	27190210	C	T	27190210	2	4	53	1	0	0	0	0	0	0	0	1	14246	726	26	4		4	SFN	1	27190210	Silent	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	7604961	27190210	222060411	2	10125											
KANK4	163782	broad.mit.edu	37	chr1	62740535	62740535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcggggctgcaggggggcGagccccactgtcaggaaggc	6	3	21	11	2	1	0	1	0	0	0	1	2	1	1	2	8	2	2	2	8	1	0			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:62740535G>A	ENST00000371153.4	-	3	619	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	81										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCAGGGGGGCGAGCCCCACTG	0.567													92	86					0	0	0	0	A	62740535	G	A	62740535	3	1	53	1	0	0	0	0	1	0	0	0	8032	1058	37	1	2778	1	KANK4	1	62740535	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	35550325	62740535	186510086	3	10126											
NME7	29922	broad.mit.edu	37	chr1	169267911	169267911	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactccagagtttgcaggTcccagcagtcttttccattc	7	12	8	14	0	1	1	0	0	1	1	5	1	4	1	4	1	2	3	4	1	0	4			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:169267911T>C	ENST00000367811.3	-	6	787	c.531A>G	c.(529-531)ggA>ggG	p.G177G	NME7_ENST00000472647.1_Silent_p.G141G|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	177					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AGTTTGCAGGTCCCAGCAGTC	0.438													18	40					0	0	0	0	C	169267911	T	C	169267911	2	2	53	1	0	0	0	0	0	0	0	1	10566	1654	58	5		5	NME7	1	169267911	Silent	SNP	T	TCGA-BB-A5HZ-01A-21D-A28R-08	106527376	169267911	79982710	4	10127											
PKP1	5317	broad.mit.edu	37	chr1	201286835	201286835	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagctggagacccggaggCagaatgggatccgcgaggca	12	3	16	10	3	0	2	0	0	0	2	1	6	1	4	2	5	1	3	2	5	2	0			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:201286835C>T	ENST00000263946.3	+	5	1233	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	PKP1_ENST00000367324.3_Nonsense_Mutation_p.Q328*|PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000352845.3_Nonsense_Mutation_p.Q328*	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	328					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GACCCGGAGGCAGAATGGGAT	0.657													20	40					0	0	0	0	T	201286835	C	T	201286835	4	4	53	1	0	0	0	0	0	1	0	0	12056	711	25	4	1000	4	PKP1	1	201286835	Nonsense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	32018924	201286835	47963786	5	10128											
SNTG2	54221	broad.mit.edu	37	chr2	1241752	1241752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaccgactggctgcgggCggtctcagccaacatcaggg	7	6	15	13	3	2	0	2	0	1	0	3	1	2	0	2	5	3	2	2	5	1	0			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:1241752C>T	ENST00000308624.5	+	10	941	c.812C>T	c.(811-813)gCg>gTg	p.A271V	SNTG2_ENST00000407292.1_Missense_Mutation_p.A144V	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	271					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGGCTGCGGGCGGTCTCAGCC	0.572													5	22					0	0	0	0	T	1241752	C	T	1241752	3	4	53	1	0	0	0	0	1	0	0	0	14963	768	27	1	850	1	SNTG2	2	1241752	Missense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08		1241752	241957621	6	10129											
PLEKHH2	130271	broad.mit.edu	37	chr2	43927382	43927382	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctctggaaaaggaacaCaattagtgccttcatcacac	14	9	6	12	0	3	0	2	0	1	0	4	2	3	2	1	2	2	0	1	2	5	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:43927382C>T	ENST00000282406.4	+	8	1395	c.1285C>T	c.(1285-1287)Caa>Taa	p.Q429*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	429						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAAAGGAACACAATTAGTGCC	0.448													38	105					0	0	0	0	T	43927382	C	T	43927382	4	4	53	1	0	0	0	0	0	1	0	0	12149	479	17	4	1311	4	PLEKHH2	2	43927382	Nonsense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	42685630	43927382	199271991	7	10130											
SPRED2	200734	broad.mit.edu	37	chr2	65571949	65571949	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccgacgcgactgatcccGcctccttcctgtgggaacca	7	7	9	18	4	0	1	0	1	0	0	3	4	3	2	7	1	1	0	7	1	1	1			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:65571949G>A	ENST00000356388.4	-	2	297	c.108C>T	c.(106-108)ggC>ggT	p.G36G	SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Silent_p.G33G	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	36	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GACTGATCCCGCCTCCTTCCT	0.527													8	41					0	0	0	0	A	65571949	G	A	65571949	2	1	53	1	0	0	0	0	0	0	0	1	15183	1074	38	1		1	SPRED2	2	65571949	Silent	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	21644567	65571949	177627424	8	10131											
TACR1	6869	broad.mit.edu	37	chr2	75347713	75347713	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcacactttctcataaaTcttgttcggatgctctggcc	8	15	6	12	1	4	0	2	0	3	0	6	1	4	1	1	2	2	2	1	2	3	5			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:75347713T>G	ENST00000305249.4	-	2	1336	c.571A>C	c.(571-573)Att>Ctt	p.I191L	TACR1_ENST00000409848.3_Missense_Mutation_p.I191L|TACR1_ENST00000497764.1_5'UTR	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	191					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TTCTCATAAATCTTGTTCGGA	0.522													37	42					0	0	0	0	G	75347713	T	G	75347713	3	3	53	1	0	0	0	0	1	0	0	0	15596	1435	50	5	672	5	TACR1	2	75347713	Missense_Mutation	SNP	T	TCGA-BB-A5HZ-01A-21D-A28R-08	9775764	75347713	167851660	9	10132											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521587	125521587	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtctcattttatacagAagcctcttacctccactttc	8	14	4	15	2	2	1	1	0	2	1	5	1	3	1	4	0	3	0	4	0	4	5			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:125521587A>T	ENST00000431078.1	+	16	2757	c.2393A>T	c.(2392-2394)gAa>gTa	p.E798V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	798	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTTTATACAGAAGCCTCTTAC	0.423													21	59					0	0	0	0	T	125521587	A	T	125521587	3	4	53	1	0	0	0	0	1	0	0	0	3680	246	9	5	2455	5	CNTNAP5	2	125521587	Missense_Mutation	SNP	A	TCGA-BB-A5HZ-01A-21D-A28R-08	50173874	125521587	117677786	10	10133											
SLC4A10	57282	broad.mit.edu	37	chr2	162357792	162357793	+	RNA	INS	-	-	T																															cagctgtgcaggaacctctaINStttttttagcttttgctttc																								rs149895753	by1000genomes	TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:162357792_162357793insT	ENST00000605990.1	+	0	344																											AGGAACCTCTATTTTTTTAGCT	0.411													9	46	---	---	---	---					T	162357793	-	T	162357792	6	5	53	0	1	1	1	0	0	0	0	0	14739	464	16	0		0	SLC4A10	2	162357792	RNA	INS	-	TCGA-BB-A5HZ-01A-21D-A28R-08	36836205	162357792	80841581	11	10134											
SP3	6670	broad.mit.edu	37	chr2	174828561	174828561	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcccggcgatggcggcccTatcttgctgcaggtagcggc	4	8	15	14	5	1	0	0	0	1	0	2	1	1	0	2	5	3	3	2	5	2	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:174828561T>C	ENST00000310015.6	-	3	737	c.207A>G	c.(205-207)atA>atG	p.I69M	SP3_ENST00000418194.2_Missense_Mutation_p.I1M|SP3_ENST00000455789.2_Intron	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	69	Ala-rich.			I -> M (in Ref. 2; AAR30505).	negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ATGGCGGCCCTATCTTGCTGC	0.766													6	14					0	0	0	0	C	174828561	T	C	174828561	3	2	53	1	0	0	0	0	1	0	0	0	15053	1512	53	5	2158	5	SP3	2	174828561	Missense_Mutation	SNP	T	TCGA-BB-A5HZ-01A-21D-A28R-08	12470769	174828561	68370812	12	10135											
SPEG	10290	broad.mit.edu	37	chr2	220334054	220334054	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccatcagctggttccAcaatggccaccgcatccaga	10	6	7	18	1	1	1	1	0	0	1	3	1	3	1	7	2	1	3	7	2	1	1			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:220334054A>T	ENST00000312358.7	+	13	3800	c.3668A>T	c.(3667-3669)cAc>cTc	p.H1223L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1223	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCTGGTTCCACAATGGCCAC	0.642													6	36					0	0	0	0	T	220334054	A	T	220334054	3	4	53	1	0	0	0	0	1	0	0	0	15126	159	6	5	3730	5	SPEG	2	220334054	Missense_Mutation	SNP	A	TCGA-BB-A5HZ-01A-21D-A28R-08	45505493	220334054	22865319	13	10136											
OXTR	5021	broad.mit.edu	37	chr3	8809325	8809325	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcccagcagtcgaagacGccgtcagccacctcgcgcag	9	3	12	17	6	1	1	1	0	0	1	3	2	1	1	4	1	2	2	4	1	1	0			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:8809325G>A	ENST00000316793.3	-	3	1173	c.549C>T	c.(547-549)ggC>ggT	p.G183G	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	183					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	AGTCGAAGACGCCGTCAGCCA	0.667													14	77					0	0	0	0	A	8809325	G	A	8809325	2	1	53	1	0	0	0	0	0	0	0	1	11409	1074	38	1		1	OXTR	3	8809325	Silent	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08		8809325	189213105	14	10137											
RHOA	387	broad.mit.edu	37	chr3	49405978	49405978	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcccacaaagccaactCtacctgtaatgggaaaaaca	15	8	7	11	0	1	0	0	0	1	0	2	1	2	1	3	1	4	1	3	1	6	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:49405978C>A	ENST00000418115.1	-	3	544	c.160G>T	c.(160-162)Gag>Tag	p.E54*	RHOA_ENST00000422781.1_Nonsense_Mutation_p.E54*|RHOA_ENST00000454011.2_Intron	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	54					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	AAAGCCAACTCTACCTGTAAT	0.463													9	78					1.12685e-05	1.18103e-05	1	0	A	49405978	C	A	49405978	4	1	53	1	0	0	0	0	0	1	0	0	13414	922	32	2	433	2	RHOA	3	49405978	Nonsense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	40596653	49405978	148616452	15	10138											
ABI3BP	25890	broad.mit.edu	37	chr3	100513802	100513802	+	Frame_Shift_Del	DEL	G	G	-																															gttcctcttgactaggacttGgggaaatcatgggtataaaa																										TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:100513802delG	ENST00000471714.1	-	53	3993	c.3884delC	c.(3883-3885)cafs	p.P1295fs	ABI3BP_ENST00000383691.4_Frame_Shift_Del_p.P572fs|ABI3BP_ENST00000284322.5_Frame_Shift_Del_p.P618fs			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	618						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACTAGGACTTGGGGAAATCAT	0.403													2	4	---	---	---	---					-	100513802	G	-	100513802	7	5	53	1	0	1	0	1	0	0	0	0	91	1348	47	0	1430	0	ABI3BP	3	100513802	Frame_Shift_Del	DEL	G	TCGA-BB-A5HZ-01A-21D-A28R-08	51107824	100513802	97508628	16	10139											
FAM194A	131831	broad.mit.edu	37	chr3	150377894	150377894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actggccagcagaagaaggtCatctccacttacgtatcgga	12	8	10	11	2	2	2	1	0	1	2	4	3	2	3	2	3	2	2	2	3	4	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:150377894C>T	ENST00000295910.6	-	14	1829	c.1777G>A	c.(1777-1779)Gac>Aac	p.D593N	FAM194A_ENST00000491361.1_Missense_Mutation_p.D447N	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	593										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGAAGAAGGTCATCTCCACTT	0.433													36	92					0	0	0	0	T	150377894	C	T	150377894	3	4	53	1	0	0	0	0	1	0	0	0	5569	826	29	2	218	2	FAM194A	3	150377894	Missense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	49864092	150377894	47644536	17	10140											
MECOM	2122	broad.mit.edu	37	chr3	168833867	168833867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtcactttccagatcagagCccgaggttgtttccaggtca	8	12	10	11	1	3	2	3	0	0	2	5	3	5	2	3	2	1	2	3	2	0	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:168833867C>T	ENST00000464456.1	-	7	2429	c.1229G>A	c.(1228-1230)gGc>gAc	p.G410D	MECOM_ENST00000472280.1_Missense_Mutation_p.G411D|MECOM_ENST00000494292.1_Missense_Mutation_p.G598D|MECOM_ENST00000468789.1_Missense_Mutation_p.G410D|MECOM_ENST00000460814.1_Missense_Mutation_p.G410D|MECOM_ENST00000433243.2_Missense_Mutation_p.G411D|MECOM_ENST00000392736.3_Missense_Mutation_p.G410D|MECOM_ENST00000264674.3_Missense_Mutation_p.G475D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAGATCAGAGCCCGAGGTTGT	0.418													9	48					0	0	0	0	T	168833867	C	T	168833867	3	4	53	1	0	0	0	0	1	0	0	0	9491	739	26	4	1966	4	MECOM	3	168833867	Missense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	18455973	168833867	29188563	18	10141											
SPATA18	132671	broad.mit.edu	37	chr4	52946083	52946083	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagtttttaatgattgCaagtaagagacacaggagca	16	9	12	4	0	0	3	0	1	0	2	0	6	0	4	0	2	2	4	0	2	4	5			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr4:52946083C>T	ENST00000295213.4	+	9	1727	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	SPATA18_ENST00000419395.2_Silent_p.C419C	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	451					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTAATGATTGCAAGTAAGAGA	0.403													25	105					0	0	0	0	T	52946083	C	T	52946083	2	4	53	1	0	0	0	0	0	0	0	1	15093	718	25	4		4	SPATA18	4	52946083	Silent	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08		52946083	138208193	19	10142											
MTTP	4547	broad.mit.edu	37	chr4	100542372	100542372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgcatgcagatggacaagGatgaagctccattcaggtaa	13	10	11	7	0	1	2	1	1	0	1	2	4	2	4	1	3	3	4	1	3	3	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr4:100542372G>A	ENST00000457717.1	+	18	2753	c.2497G>A	c.(2497-2499)Gat>Aat	p.D833N	MTTP_ENST00000265517.5_Missense_Mutation_p.D833N|MTTP_ENST00000511045.1_Missense_Mutation_p.D860N|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	833					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GATGGACAAGGATGAAGCTCC	0.468													47	102					0	0	0	0	A	100542372	G	A	100542372	3	1	53	1	0	0	0	0	1	0	0	0	10034	1174	41	2	2563	2	MTTP	4	100542372	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	47596289	100542372	90611904	20	10143											
CDC20B	166979	broad.mit.edu	37	chr5	54429249	54429249	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgataacttacagtagtcatTtcgaagaccagtaatatgaa	16	12	7	6	1	1	3	1	2	0	1	2	4	1	3	1	0	2	2	1	0	7	6			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:54429249T>A	ENST00000334206.5	-	6	864	c.688A>T	c.(688-690)Aat>Tat	p.N230Y	CDC20B_ENST00000381375.2_Missense_Mutation_p.N230Y|CDC20B_ENST00000296733.1_Missense_Mutation_p.N230Y|CDC20B_ENST00000322374.6_Missense_Mutation_p.N230Y			Q86Y33	CD20B_HUMAN	cell division cycle 20B	230										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CAGTAGTCATTTCGAAGACCA	0.343													17	50					0	0	0	0	A	54429249	T	A	54429249	3	1	53	1	0	0	0	0	1	0	0	0	3089	1841	64	5	899	5	CDC20B	5	54429249	Missense_Mutation	SNP	T	TCGA-BB-A5HZ-01A-21D-A28R-08		54429249	126486011	21	10144											
ANKHD1	54882	broad.mit.edu	37	chr5	139876313	139876313	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaacaaagataagatagaAgaacttaaaaagaacagaga	24	5	8	4	0	0	7	0	1	0	6	0	8	0	7	0	0	3	0	0	0	10	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:139876313A>G	ENST00000297183.6	+	15	2578	c.2454A>G	c.(2452-2454)gaA>gaG	p.E818E	ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.E818E|ANKHD1_ENST00000360839.2_Silent_p.E818E	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAGATAGAAGAACTTAAAA	0.378													31	65					0	0	0	0	G	139876313	A	G	139876313	2	3	53	1	0	0	0	0	0	0	0	1	628	69	3	5		5	ANKHD1	5	139876313	Silent	SNP	A	TCGA-BB-A5HZ-01A-21D-A28R-08	85447064	139876313	41038947	22	10145											
PCDHGA8	9708	broad.mit.edu	37	chr5	140774660	140774660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggaagtctccctcacCgccgactcgcggaagagtca	9	6	10	16	4	3	1	2	0	1	1	6	4	4	3	4	2	0	0	4	2	2	0			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:140774660C>T	ENST00000398604.2	+	1	2280	c.2280C>T	c.(2278-2280)acC>acT	p.T760T	PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCCTCACCGCCGACTCGC	0.527													24	66					0	0	0	0	T	140774660	C	T	140774660	2	4	53	1	0	0	0	0	0	0	0	1	11631	639	23	1		1	PCDHGA8	5	140774660	Silent	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	898347	140774660	40140600	23	10146											
PCDHGC4	56098	broad.mit.edu	37	chr5	140865760	140865760	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagccttcgagtggatctGctggacgtaaatgacaatgc	10	10	12	9	2	1	1	0	1	1	0	2	4	1	3	1	2	4	3	1	2	3	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:140865760G>T	ENST00000306593.1	+	1	1020	c.1020G>T	c.(1018-1020)ctG>ctT	p.L340L	PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTGGATCTGCTGGACGTAA	0.527													26	49					1.64293e-13	1.82734e-13	1	0	T	140865760	G	T	140865760	2	4	53	1	0	0	0	0	0	0	0	1	11641	1306	46	4		4	PCDHGC4	5	140865760	Silent	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	91100	140865760	40049500	24	10147											
PCYOX1L	78991	broad.mit.edu	37	chr5	148747932	148747932	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgagtccagtcccccaaGcccctctttcggacccagct	6	8	9	18	2	1	0	0	0	1	0	4	2	3	1	6	2	2	1	6	2	1	1			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:148747932G>A	ENST00000514349.1	+	5	1509	c.930G>A	c.(928-930)aaG>aaA	p.K310K	PCYOX1L_ENST00000274569.4_Silent_p.K400K			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	400					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCCCCAAGCCCCTCTTTC	0.602											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	161					0	0	0	0	A	148747932	G	A	148747932	2	1	53	1	0	0	0	0	0	0	0	1	11680	962	34	4		4	PCYOX1L	5	148747932	Silent	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	7882172	148747932	32167328	25	10148											
NSD1	64324	broad.mit.edu	37	chr5	176638683	176638693	+	Frame_Shift_Del	DEL	GGCCACTTAAC	GGCCACTTAAC	-																															aggatccccttcagataatgGgccacttaacaagtgaagat																										TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:176638683_176638693delGGCCACTTAAC	ENST00000439151.2	+	5	3328_3338	c.3283_3293delGGCCACTTAAC	c.(3283-3294)afs	p.GHLT1095fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.GHLT826fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.GHLT826fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.GHLT992fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1095					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCAGATAATGGGCCACTTAACAAGTGAAGAT	0.436			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			22	78	---	---	---	---					-	176638693	GGCCACTTAAC	-	176638683	7	5	53	1	0	1	0	1	0	0	0	0	10740	1232	43	0	3297	0	NSD1	5	176638683	Frame_Shift_Del	DEL	GGCCACTTAAC	TCGA-BB-A5HZ-01A-21D-A28R-08	27890751	176638683	4276577	26	10149											
NSD1	64324	broad.mit.edu	37	chr5	176662896	176662897	+	Frame_Shift_Ins	INS	-	-	T																															tacagaagaatatgatcagaINStatttgctcctaagaaaaaa																										TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:176662896_176662897insT	ENST00000439151.2	+	6	3916_3917	c.3871_3872insT	c.(3871-3873)attfs	p.I1291fs	NSD1_ENST00000354179.4_Frame_Shift_Ins_p.I1022fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.I1022fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.I1188fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1291					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATATGATCAGATATTTGCTCCT	0.386			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			9	34	---	---	---	---					T	176662897	-	T	176662896	7	5	53	1	0	1	1	0	0	0	0	0	10740	333	12	0	3889	0	NSD1	5	176662896	Frame_Shift_Ins	INS	-	TCGA-BB-A5HZ-01A-21D-A28R-08	24213	176662896	4252364	27	10150											
HIST1H3A	8350	broad.mit.edu	37	chr6	26021038	26021038	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtagggctatttgaggaCactaacctgtgcgccatcca	9	11	11	10	1	0	1	0	1	0	0	1	2	1	2	3	3	2	2	3	3	3	5			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr6:26021038C>T	ENST00000357647.3	+	1	321	c.321C>T	c.(319-321)gaC>gaT	p.D107D		NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	107					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TATTTGAGGACACTAACCTGT	0.587													20	52					0	0	0	0	T	26021038	C	T	26021038	2	4	53	1	0	0	0	0	0	0	0	1	7205	477	17	4		4	HIST1H3A	6	26021038	Silent	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08		26021038	145094029	28	10151											
HIST1H2AK	8330	broad.mit.edu	37	chr6	27806004	27806004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacccgctcagcgtagttGcccttgcggagcagtcggtg	5	8	14	14	5	1	0	1	0	0	0	2	2	1	1	3	2	4	4	3	2	1	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr6:27806004G>A	ENST00000330180.2	-	1	113	c.114C>T	c.(112-114)ggC>ggT	p.G38G		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	38					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CAGCGTAGTTGCCCTTGCGGA	0.667													23	69					0	0	0	0	A	27806004	G	A	27806004	2	1	53	1	0	0	0	0	0	0	0	1	7187	1306	46	4		4	HIST1H2AK	6	27806004	Silent	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	1784966	27806004	143309063	29	10152											
ADCY1	107	broad.mit.edu	37	chr7	45688354	45688354	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagactgaccatgcccActgctgtgtggagatgggac	9	7	13	12	0	0	3	0	1	0	2	0	5	0	4	3	2	2	1	3	2	1	0			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr7:45688354A>T	ENST00000297323.7	+	5	1128	c.1106A>T	c.(1105-1107)cAc>cTc	p.H369L	ADCY1_ENST00000432715.1_Missense_Mutation_p.H144L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	369					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GACCATGCCCACTGCTGTGTG	0.567													18	57					0	0	0	0	T	45688354	A	T	45688354	3	4	53	1	0	0	0	0	1	0	0	0	292	159	6	5	1124	5	ADCY1	7	45688354	Missense_Mutation	SNP	A	TCGA-BB-A5HZ-01A-21D-A28R-08		45688354	113450309	30	10153											
TPST1	8460	broad.mit.edu	37	chr7	65751528	65751528	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacagaccaagtaatcaaGccagtcaatgtaggagctct	14	9	8	10	0	4	1	2	0	2	1	4	2	4	2	2	1	3	3	2	1	6	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr7:65751528G>A	ENST00000304842.5	+	3	1301	c.876G>A	c.(874-876)aaG>aaA	p.K292K	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	292					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AAGTAATCAAGCCAGTCAATG	0.353													20	41					0	0	0	0	A	65751528	G	A	65751528	2	1	53	1	0	0	0	0	0	0	0	1	16522	962	34	4		4	TPST1	7	65751528	Silent	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	20063174	65751528	93387135	31	10154											
OR2A5	393046	broad.mit.edu	37	chr7	143748390	143748403	+	Frame_Shift_Del	DEL	GTGCCCTGAAAAGA	GTGCCCTGAAAAGA	-																															gaggaacgcagaggtcaaggGtgccctgaaaagagtgttgt																										TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr7:143748390_143748403delGTGCCCTGAAAAGA	ENST00000408906.2	+	1	930_943	c.896_909delGTGCCCTGAAAAGA	c.(895-909)gfs	p.GALKR299fs		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GAGGTCAAGGGTGCCCTGAAAAGAGTGTTGTGGA	0.491													12	92	---	---	---	---					-	143748403	GTGCCCTGAAAAGA	-	143748390	7	5	53	1	0	1	0	1	0	0	0	0	11052	1261	44	0	898	0	OR2A5	7	143748390	Frame_Shift_Del	DEL	GTGCCCTGAAAAGA	TCGA-BB-A5HZ-01A-21D-A28R-08	77996862	143748390	15390273	32	10155											
ZNF777	27153	broad.mit.edu	37	chr7	149152695	149152696	+	Frame_Shift_Ins	INS	-	-	G																															aactgttggggaaagggtcaINSgggggtctttctcaggagct																										TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr7:149152695_149152696insG	ENST00000247930.4	-	2	741_742	c.418_419insC	c.(418-420)gacfs	p.D140fs		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGAAAGGGTCAGGGGGTCTTTC	0.599													7	355	---	---	---	---					G	149152696	-	G	149152695	7	5	53	1	0	1	1	0	0	0	0	0	18243	188	7	0	2096	0	ZNF777	7	149152695	Frame_Shift_Ins	INS	-	TCGA-BB-A5HZ-01A-21D-A28R-08	5404305	149152695	9985968	33	10156											
MMP16	4325	broad.mit.edu	37	chr8	89130998	89130998	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctgtttccatgtactggtAaaatggagccatgatggcag	10	12	12	7	0	1	1	0	1	1	0	2	2	2	2	2	3	2	4	2	3	3	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr8:89130998A>G	ENST00000286614.6	-	5	1083	c.802T>C	c.(802-804)Tac>Cac	p.Y268H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	268					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATGTACTGGTAAAATGGAGCC	0.413													28	50					0	0	0	0	G	89130998	A	G	89130998	3	3	53	1	0	0	0	0	1	0	0	0	9724	362	13	5	1201	5	MMP16	8	89130998	Missense_Mutation	SNP	A	TCGA-BB-A5HZ-01A-21D-A28R-08		89130998	57233024	34	10157											
FAM135B	51059	broad.mit.edu	37	chr8	139149396	139149396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatgtagcttacctgtgtGtctgtctttgagggcagttt	7	17	11	6	0	2	1	0	1	2	0	2	1	2	1	1	1	2	4	1	1	4	5			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr8:139149396G>A	ENST00000395297.1	-	19	4179	c.4009C>T	c.(4009-4011)Cac>Tac	p.H1337Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1337										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTACCTGTGTGTCTGTCTTTG	0.403										HNSCC(54;0.14)			14	104					0	0	0	0	A	139149396	G	A	139149396	3	1	53	1	0	0	0	0	1	0	0	0	5490	1377	48	4	219	4	FAM135B	8	139149396	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	50018398	139149396	7214626	35	10158											
TLR4	7099	broad.mit.edu	37	chr9	120475765	120475765	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacctcatttaccttgaCatttctcatactcacaccag	13	12	3	13	0	3	2	3	1	1	1	4	2	3	2	3	0	3	0	3	0	3	5			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr9:120475765C>T	ENST00000355622.6	+	3	1460	c.1359C>T	c.(1357-1359)gaC>gaT	p.D453D	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.D413D	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	453					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTTACCTTGACATTTCTCATA	0.393													18	74					0	0	0	0	T	120475765	C	T	120475765	2	4	53	1	0	0	0	0	0	0	0	1	16047	477	17	4		4	TLR4	9	120475765	Silent	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08		120475765	20737666	36	10159											
ABCA2	20	broad.mit.edu	37	chr9	139912063	139912063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcggtgagtgctgtcaCggagatggacagctgcacaa	10	7	16	8	2	1	2	1	1	0	1	1	5	1	3	0	4	3	3	0	4	1	0			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr9:139912063C>T	ENST00000265662.5	-	17	2440	c.2293G>A	c.(2293-2295)Gtg>Atg	p.V765M	ABCA2_ENST00000371605.3_Missense_Mutation_p.V764M|ABCA2_ENST00000341511.6_Missense_Mutation_p.V765M			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	764					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGTGCTGTCACGGAGATGGAC	0.617													13	61					0	0	0	0	T	139912063	C	T	139912063	3	4	53	1	0	0	0	0	1	0	0	0	32	536	19	1	5149	1	ABCA2	9	139912063	Missense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	19436298	139912063	1301368	37	10160											
PARD3	56288	broad.mit.edu	37	chr10	34671814	34671814	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacatggaaccaaatgatGggtgtacgcatggcttggcg	11	8	13	9	2	0	1	0	1	0	0	0	2	0	2	2	4	2	3	2	4	3	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:34671814G>A	ENST00000374789.3	-	9	1378	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	PARD3_ENST00000346874.4_Silent_p.P351P|PARD3_ENST00000374788.3_Silent_p.P351P|PARD3_ENST00000340077.5_Silent_p.P351P|PARD3_ENST00000544292.1_Silent_p.P81P|PARD3_ENST00000374776.1_Silent_p.P351P|PARD3_ENST00000545693.1_Silent_p.P351P|PARD3_ENST00000374794.3_Silent_p.P307P|PARD3_ENST00000374790.3_Silent_p.P307P|PARD3_ENST00000374773.1_Silent_p.P351P|PARD3_ENST00000350537.4_Silent_p.P351P|PARD3_ENST00000545260.1_Silent_p.P307P	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	351	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ACCAAATGATGGGTGTACGCA	0.403													4	181					0	0	0	0	A	34671814	G	A	34671814	2	1	53	1	0	0	0	0	0	0	0	1	11514	1335	47	4		4	PARD3	10	34671814	Silent	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08		34671814	100862933	38	10161											
ADAMTS14	140766	broad.mit.edu	37	chr10	72509715	72509715	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagcctcaagaccagcgggCccctgcctgaagccattgcc	10	5	10	16	1	1	2	1	1	0	1	1	2	1	2	7	1	5	0	7	1	3	1			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:72509715C>G	ENST00000373208.1	+	16	2410	c.2410C>G	c.(2410-2412)Ccc>Gcc	p.P804A	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P801A	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	801	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GACCAGCGGGCCCCTGCCTGA	0.642													10	138					0	0	0	0	G	72509715	C	G	72509715	3	3	53	1	0	0	0	0	1	0	0	0	259	739	26	4	2472	4	ADAMTS14	10	72509715	Missense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	37837901	72509715	63025032	39	10162											
RNLS	55328	broad.mit.edu	37	chr10	90122434	90122436	+	In_Frame_Del	DEL	GAG	GAG	-																															agaggcccagagcatatcgaGaggagtagctcacagcctcc																										TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:90122434_90122436delGAG	ENST00000371947.3	-	5	1912_1914	c.573_575delCTC	c.(571-576)tct>tc	p.SS191del	RNLS_ENST00000331772.4_In_Frame_Del_p.SS191del|RNLS_ENST00000437752.1_In_Frame_Del_p.SS108del|RNLS_ENST00000466945.1_5'UTR	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	191						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AGCATATCGAGAGGAGTAGCTCA	0.443													15	64	---	---	---	---					-	90122436	GAG	-	90122434	7	5	53	1	0	1	0	1	0	0	0	0	13590	942	33	0	541	0	RNLS	10	90122434	In_Frame_Del	DEL	GAG	TCGA-BB-A5HZ-01A-21D-A28R-08	17612719	90122434	45412313	40	10163											
ZNF518A	9849	broad.mit.edu	37	chr10	97916587	97916587	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtatttaaacaacacagaCgaacccatagaagcacttta	18	8	6	9	1	0	2	0	0	0	2	0	3	0	2	1	1	4	2	1	1	8	6			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:97916587C>T	ENST00000534948.1	+	0	1365							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ACAACACAGACGAACCCATAG	0.358													21	203					0	0	0	0	T	97916587	C	T	97916587	1	4	53	0	1	0	0	0	0	0	0	0	18057	528	19	1		1	ZNF518A	10	97916587	RNA	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	7794153	97916587	37618160	41	10164											
CCDC147	159686	broad.mit.edu	37	chr10	106139933	106139933	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatctttcatctggaaaaGgagcgtgaccggtacatcaa	13	10	9	9	2	5	1	3	1	2	0	5	3	5	3	1	3	2	1	1	3	4	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:106139933G>A	ENST00000369704.3	+	9	1454	c.1320G>A	c.(1318-1320)aaG>aaA	p.K440K	CCDC147_ENST00000312902.5_Silent_p.K62K|CCDC147_ENST00000369703.1_Silent_p.K62K	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	440										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATCTGGAAAAGGAGCGTGACC	0.493													26	95					0	0	0	0	A	106139933	G	A	106139933	2	1	53	1	0	0	0	0	0	0	0	1	2806	991	35	4		4	CCDC147	10	106139933	Silent	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	8223346	106139933	29394814	42	10165											
MUC2	4583	broad.mit.edu	37	chr11	1075751	1075751	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccgcttccccggcctctgCgactacaacttcgcctccga	5	10	7	19	5	1	0	0	0	1	0	5	2	4	0	6	1	3	1	6	1	2	4			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:1075751C>T	ENST00000441003.2	+	2	204	c.177C>T	c.(175-177)tgC>tgT	p.C59C	MUC2_ENST00000359061.5_Silent_p.C59C	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	59	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGGCCTCTGCGACTACAACT	0.647													7	29					0	0	0	0	T	1075751	C	T	1075751	2	4	53	1	0	0	0	0	0	0	0	1	10045	776	27	1		1	MUC2	11	1075751	Silent	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08		1075751	133930765	43	10166											
PGAP2	27315	broad.mit.edu	37	chr11	3838716	3838716	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcttcttcttctgcatcaTctggtccctggtgttccact	3	16	8	14	1	5	0	1	0	4	0	7	0	7	0	2	3	1	3	2	3	0	4			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:3838716T>A	ENST00000278243.4	+	3	500	c.299T>A	c.(298-300)aTc>aAc	p.I100N	PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000496834.2_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000396991.2_Missense_Mutation_p.I100N|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000396993.4_Intron	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	100					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						TTCTGCATCATCTGGTCCCTG	0.602													23	50					0	0	0	0	A	3838716	T	A	3838716	3	1	53	1	0	0	0	0	1	0	0	0	11850	1435	50	5	484	5	PGAP2	11	3838716	Missense_Mutation	SNP	T	TCGA-BB-A5HZ-01A-21D-A28R-08	2762965	3838716	131167800	44	10167											
OR52B6	340980	broad.mit.edu	37	chr11	5602505	5602505	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttcattcactctgctgtCctgctggccatggcctttga	4	15	8	14	0	4	1	2	1	2	0	5	1	5	1	3	2	2	2	3	2	0	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:5602505C>A	ENST00000345043.2	+	1	399	c.399C>A	c.(397-399)gtC>gtA	p.V133V	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTCTGCTGTCCTGCTGGCCA	0.522													28	90					1.42536e-11	1.56933e-11	1	0	A	5602505	C	A	5602505	2	1	53	1	0	0	0	0	0	0	0	1	11184	842	30	2		2	OR52B6	11	5602505	Silent	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	1763789	5602505	129404011	45	10168											
MRGPRX2	117194	broad.mit.edu	37	chr11	19076976	19076976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctacaccagactgcttctcGacatctccggggtgccctga	7	10	9	15	2	3	2	0	1	3	1	5	3	3	2	3	2	3	1	3	2	1	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:19076976G>A	ENST00000329773.2	-	2	1061	c.974C>T	c.(973-975)tCg>tTg	p.S325L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	325					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.S325L(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ACTGCTTCTCGACATCTCCGG	0.537													31	99					0	0	0	0	A	19076976	G	A	19076976	3	1	53	1	0	0	0	0	1	0	0	0	9837	1059	37	1	22	1	MRGPRX2	11	19076976	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	13474471	19076976	115929540	46	10169											
TRAF6	7189	broad.mit.edu	37	chr11	36514153	36514153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaattggggctgtagggCagtctagatcataatgatta	12	12	13	4	0	2	2	1	1	1	1	2	3	2	3	0	4	0	3	0	4	5	5			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:36514153C>A	ENST00000526995.1	-	6	950	c.704G>T	c.(703-705)tGc>tTc	p.C235F	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Missense_Mutation_p.C235F	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	235	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GGCTGTAGGGCAGTCTAGATC	0.323													24	99					8.24728e-16	9.3641e-16	1	0	A	36514153	C	A	36514153	3	1	53	1	0	0	0	0	1	0	0	0	16540	710	25	4	872	4	TRAF6	11	36514153	Missense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	17437177	36514153	98492363	47	10170											
CCDC88B	283234	broad.mit.edu	37	chr11	64111483	64111483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcaccccctgctggaGgcaccgagagaggaccctgt	8	5	12	16	1	1	1	1	0	0	1	1	5	1	3	5	3	2	3	5	3	0	0			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:64111483G>C	ENST00000356786.5	+	14	1514	c.1470G>C	c.(1468-1470)gaG>gaC	p.E490D	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	490					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCTGCTGGAGGCACCGAGAG	0.662													6	30					0	0	0	0	C	64111483	G	C	64111483	3	2	53	1	0	0	0	0	1	0	0	0	2891	991	35	4	1524	4	CCDC88B	11	64111483	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	27597330	64111483	70895033	48	10171											
NPAS4	266743	broad.mit.edu	37	chr11	66190203	66190203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcgccagagtgcaggCaacaaactcgtgcttattcg	10	8	11	12	3	1	1	1	0	0	1	3	1	1	1	1	2	4	3	1	2	3	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:66190203C>T	ENST00000311034.2	+	4	665	c.489C>T	c.(487-489)ggC>ggT	p.G163G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	163					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGAGTGCAGGCAACAAACTCG	0.552													29	103					0	0	0	0	T	66190203	C	T	66190203	2	4	53	1	0	0	0	0	0	0	0	1	10635	697	25	4		4	NPAS4	11	66190203	Silent	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	2078720	66190203	68816313	49	10172											
PATE1	160065	broad.mit.edu	37	chr11	125616580	125616580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggatcactttcaatgaGaaatgatgcaggtgagtagg	13	11	12	5	0	3	3	2	3	1	1	3	5	3	4	0	3	1	2	0	3	3	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:125616580G>T	ENST00000305738.5	+	2	89	c.77G>T	c.(76-78)aGa>aTa	p.R26I	PATE1_ENST00000437148.2_Missense_Mutation_p.R26I	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	26						extracellular region				large_intestine(1)|lung(5)	6						CTTTCAATGAGAAATGATGCA	0.433													5	69					0.014758	0.0150338	1	0	T	125616580	G	T	125616580	3	4	53	1	0	0	0	0	1	0	0	0	11544	942	33	2	83	2	PATE1	11	125616580	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	59426377	125616580	9389936	50	10173											
EPS8	2059	broad.mit.edu	37	chr12	15811037	15811037	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatggagtaaacaaaaaGtgaaccaaatctgcagcact	18	9	7	7	0	1	1	0	1	1	0	1	2	1	2	1	1	4	3	1	1	7	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:15811037G>A	ENST00000281172.5	-	12	1513	c.1077C>T	c.(1075-1077)caC>caT	p.H359H	EPS8_ENST00000542903.1_Silent_p.H99H|EPS8_ENST00000540613.1_Silent_p.H99H|EPS8_ENST00000543523.1_Silent_p.H359H|EPS8_ENST00000543612.1_Silent_p.H359H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	359					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TAAACAAAAAGTGAACCAAAT	0.338													8	27					0	0	0	0	A	15811037	G	A	15811037	2	1	53	1	0	0	0	0	0	0	0	1	5232	1020	36	4		4	EPS8	12	15811037	Silent	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08		15811037	118040858	51	10174											
BHLHE41	79365	broad.mit.edu	37	chr12	26275624	26275624	+	Frame_Shift_Del	DEL	G	G	-																															gcttcatcctcttgggcgccGgcgagtcctccccgggaggc																										TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:26275624delG	ENST00000242728.4	-	5	1171	c.824delC	c.(823-825)cgfs	p.P275fs		NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	275					cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						CTTGGGCGCCGGCGAGTCCTC	0.786													15	30	---	---	---	---					-	26275624	G	-	26275624	7	5	53	1	0	1	0	1	0	0	0	0	1429	1116	39	0	628	0	BHLHE41	12	26275624	Frame_Shift_Del	DEL	G	TCGA-BB-A5HZ-01A-21D-A28R-08	10464587	26275624	107576271	52	10175											
TMEM117	84216	broad.mit.edu	37	chr12	44782239	44782239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatctccatcagaacatagCaaagacatgggaatcactcg	17	7	7	10	1	3	2	2	0	1	2	5	3	3	3	1	1	2	1	1	1	5	1			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:44782239C>A	ENST00000266534.3	+	8	1456	c.1329C>A	c.(1327-1329)agC>agA	p.S443R	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.S339R	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	443						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAGAACATAGCAAAGACATGG	0.413													23	80					2.98393e-07	3.18871e-07	1	0	A	44782239	C	A	44782239	3	1	53	1	0	0	0	0	1	0	0	0	16125	709	25	4	1355	4	TMEM117	12	44782239	Missense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	18506615	44782239	89069656	53	10176											
ATF1	466	broad.mit.edu	37	chr12	51173961	51173961	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaagagtaccacgtcagaGacagcacctcaacctggttc	13	6	8	14	1	2	2	2	0	0	2	3	3	2	2	3	1	3	3	3	1	3	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:51173961G>C	ENST00000262053.3	+	2	55	c.33G>C	c.(31-33)gaG>gaC	p.E11D	ATF1_ENST00000539132.1_5'UTR	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	11					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						CCACGTCAGAGACAGCACCTC	0.408			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "								27	109					0	0	0	0	C	51173961	G	C	51173961	3	2	53	1	0	0	0	0	1	0	0	0	1083	933	33	2	35	2	ATF1	12	51173961	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	6391722	51173961	82677934	54	10177											
AVPR1A	552	broad.mit.edu	37	chr12	63544076	63544076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtactgcggcgtgctcaGcacgaagctcagcacccagg	10	5	13	13	3	2	0	2	0	0	0	2	2	2	0	1	2	6	5	1	2	3	1			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:63544076G>T	ENST00000299178.2	-	1	646	c.541C>A	c.(541-543)Ctg>Atg	p.L181M		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	181					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGCGTGCTCAGCACGAAGCTC	0.652													26	100					6.12954e-19	7.18408e-19	1	0	T	63544076	G	T	63544076	3	4	53	1	0	0	0	0	1	0	0	0	1235	962	34	4	723	4	AVPR1A	12	63544076	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	12370115	63544076	70307819	55	10178											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112318262	112318262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttgacaggtactggaggcGcaaagaaggcatcagaagga	14	6	14	7	1	2	3	1	1	1	2	2	5	2	5	0	5	1	3	0	5	4	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:112318262G>A	ENST00000550735.2	+	8	1347	c.591G>A	c.(589-591)gcG>gcA	p.A197A	MAPKAPK5_ENST00000551404.2_Silent_p.A197A	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	197	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						TACTGGAGGCGCAAAGAAGGC	0.463													4	120					0	0	0	0	A	112318262	G	A	112318262	2	1	53	1	0	0	0	0	0	0	0	1	9360	1074	38	1		1	MAPKAPK5	12	112318262	Silent	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	48774186	112318262	21533633	56	10179											
TBX3	6926	broad.mit.edu	37	chr12	115118704	115118706	+	In_Frame_Del	DEL	TGT	TGT	-																															aaatccatgtttgtctgaaaTgttgttggtgagtttcagtt																										TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:115118704_115118706delTGT	ENST00000349155.2	-	2	1598_1600	c.635_637delACA	c.(634-639)att>a	p.NI212del	TBX3_ENST00000257566.3_In_Frame_Del_p.NI212del	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	212					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	p.N212delN(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTGTCTGAAATGTTGTTGGTGAG	0.438													30	103	---	---	---	---					-	115118706	TGT	-	115118704	7	5	53	1	0	1	0	1	0	0	0	0	15753	1464	51	0	1622	0	TBX3	12	115118704	In_Frame_Del	DEL	TGT	TCGA-BB-A5HZ-01A-21D-A28R-08	2800442	115118704	18733191	57	10180											
EP400	57634	broad.mit.edu	37	chr12	132490668	132490668	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttacagatgcagatgacTgtccaggcgacagggagagt	11	8	14	8	2	0	4	0	1	0	3	2	6	1	4	1	2	2	2	1	2	1	1			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:132490668T>C	ENST00000333577.4	+	15	3164	c.3055T>C	c.(3055-3057)Tgt>Cgt	p.C1019R	EP400_ENST00000389561.2_Missense_Mutation_p.C983R|EP400_ENST00000330386.6_Missense_Mutation_p.C983R|EP400_ENST00000332482.4_Missense_Mutation_p.C946R|EP400_ENST00000389562.2_Missense_Mutation_p.C982R			Q96L91	EP400_HUMAN	E1A binding protein p400	1019	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGCAGATGACTGTCCAGGCGA	0.433													14	38					0	0	0	0	C	132490668	T	C	132490668	3	2	53	1	0	0	0	0	1	0	0	0	5187	1580	55	5	2994	5	EP400	12	132490668	Missense_Mutation	SNP	T	TCGA-BB-A5HZ-01A-21D-A28R-08	17371964	132490668	1361227	58	10181											
SCFD1	23256	broad.mit.edu	37	chr14	31142517	31142517	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactagaatcttacagagcAcaggaagatgaggtcaaacg	17	6	11	7	1	2	4	1	1	1	3	2	6	2	5	0	2	4	1	0	2	6	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr14:31142517A>T	ENST00000458591.2	+	12	1277	c.1050A>T	c.(1048-1050)gcA>gcT	p.A350A	SCFD1_ENST00000541123.1_Silent_p.A165A|SCFD1_ENST00000544052.2_Silent_p.A283A|SCFD1_ENST00000396629.2_Silent_p.A258A|SCFD1_ENST00000421551.3_Silent_p.A291A	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	350					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CTTACAGAGCACAGGAAGATG	0.358													4	33					0	0	0	0	T	31142517	A	T	31142517	2	4	53	1	0	0	0	0	0	0	0	1	13975	146	6	5		5	SCFD1	14	31142517	Silent	SNP	A	TCGA-BB-A5HZ-01A-21D-A28R-08		31142517	76207023	59	10182											
SCFD1	23256	broad.mit.edu	37	chr14	31177218	31177218	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttatcacgagtcatgaatAcaggatcacagtttgtgatg	12	14	9	6	1	3	2	3	2	0	0	3	4	3	3	0	1	1	1	0	1	3	4			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr14:31177218A>T	ENST00000458591.2	+	19	1803	c.1576A>T	c.(1576-1578)Aca>Tca	p.T526S	SCFD1_ENST00000541123.1_Missense_Mutation_p.T341S|SCFD1_ENST00000544052.2_Missense_Mutation_p.T459S|SCFD1_ENST00000396629.2_Missense_Mutation_p.T434S|SCFD1_ENST00000421551.3_Missense_Mutation_p.T467S	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	526					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AGTCATGAATACAGGATCACA	0.363													4	93					0	0	0	0	T	31177218	A	T	31177218	3	4	53	1	0	0	0	0	1	0	0	0	13975	391	14	5	1650	5	SCFD1	14	31177218	Missense_Mutation	SNP	A	TCGA-BB-A5HZ-01A-21D-A28R-08	34701	31177218	76172322	60	10183											
AKAP6	9472	broad.mit.edu	37	chr14	33292449	33292449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggattaggccaaaattGtctttgacaagagataagaa	16	10	9	6	0	1	3	0	1	1	2	1	5	1	4	2	2	0	0	2	2	6	4			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr14:33292449G>T	ENST00000280979.4	+	13	5600	c.5430G>T	c.(5428-5430)ttG>ttT	p.L1810F	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1810					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)		GGCCAAAATTGTCTTTGACAA	0.393													23	61					7.87624e-14	8.85063e-14	1	0	T	33292449	G	T	33292449	3	4	53	1	0	0	0	0	1	0	0	0	455	1368	48	4	5476	4	AKAP6	14	33292449	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	2115231	33292449	74057091	61	10184											
YLPM1	56252	broad.mit.edu	37	chr14	75231000	75231000	+	Frame_Shift_Del	DEL	A	A	-																															agcctttggagagtggggccAaaaacaagagtactgaacag																										TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr14:75231000delA	ENST00000325680.7	+	1	932	c.808delA	c.(808-810)aafs	p.K270fs	YLPM1_ENST00000552421.1_Frame_Shift_Del_p.K270fs|YLPM1_ENST00000238571.3_Frame_Shift_Del_p.K270fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAGTGGGGCCAAAAACAAGAG	0.542													17	30	---	---	---	---					-	75231000	A	-	75231000	7	5	53	1	0	1	0	1	0	0	0	0	17582	131	5	0	810	0	YLPM1	14	75231000	Frame_Shift_Del	DEL	A	TCGA-BB-A5HZ-01A-21D-A28R-08	41938551	75231000	32118540	62	10185											
DICER1	23405	broad.mit.edu	37	chr14	95572071	95572071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttctcagcactgcttaaagGaagcgctttccccttctgat	8	13	7	13	1	2	1	1	1	2	0	4	2	3	2	2	1	3	3	2	1	3	4			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr14:95572071G>A	ENST00000526495.1	-	21	3328	c.3037C>T	c.(3037-3039)Cct>Tct	p.P1013S	DICER1_ENST00000343455.3_Missense_Mutation_p.P1013S|DICER1_ENST00000393063.1_Missense_Mutation_p.P1013S|DICER1_ENST00000527414.1_Missense_Mutation_p.P1013S|DICER1_ENST00000541352.1_Missense_Mutation_p.P1013S|DICER1_ENST00000556045.1_5'UTR			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1013	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTGCTTAAAGGAAGCGCTTTC	0.348			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				5	46					0	0	0	0	A	95572071	G	A	95572071	3	1	53	1	0	0	0	0	1	0	0	0	4558	1174	41	2	2767	2	DICER1	14	95572071	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	20341071	95572071	11777469	63	10186											
SPG11	80208	broad.mit.edu	37	chr15	44890920	44890920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttcatatcaactctgagCttgaggctgtcaaggccaag	11	11	9	10	0	4	2	3	2	1	0	4	2	4	2	1	2	2	2	1	2	4	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr15:44890920C>A	ENST00000261866.7	-	22	3817	c.3801G>T	c.(3799-3801)aaG>aaT	p.K1267N	SPG11_ENST00000427534.2_Missense_Mutation_p.K1267N|SPG11_ENST00000535302.2_Missense_Mutation_p.K1267N|SPG11_ENST00000558319.1_Missense_Mutation_p.K1267N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1267					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAACTCTGAGCTTGAGGCTGT	0.428													7	69					0.27861	0.27861	1	0	A	44890920	C	A	44890920	3	1	53	1	0	0	0	0	1	0	0	0	15131	796	28	4	3606	4	SPG11	15	44890920	Missense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08		44890920	57640472	64	10187											
ZNF646	9726	broad.mit.edu	37	chr16	31088477	31088477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaaggagttctctaacCtcatggctctgaagaaccac	11	11	8	11	0	4	2	2	1	2	1	5	3	4	3	2	2	2	3	2	2	4	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr16:31088477C>T	ENST00000394979.2	+	1	1255	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	ZNF646_ENST00000300850.5_Missense_Mutation_p.L278F			O15015	ZN646_HUMAN	zinc finger protein 646	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GTTCTCTAACCTCATGGCTCT	0.612													20	53					0	0	0	0	T	31088477	C	T	31088477	3	4	53	1	0	0	0	0	1	0	0	0	18157	681	24	4	834	4	ZNF646	16	31088477	Missense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08		31088477	59266276	65	10188											
SPAG7	9552	broad.mit.edu	37	chr17	4863359	4863359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgggggtcccattcCtctccacgacggtaagagtc	6	10	11	14	2	2	1	0	0	2	1	6	2	4	1	4	3	0	1	4	3	1	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:4863359C>G	ENST00000573366.1	-	5	1080	c.222G>C	c.(220-222)gaG>gaC	p.E74D	SPAG7_ENST00000575142.1_Missense_Mutation_p.E114D|SPAG7_ENST00000206020.3_Missense_Mutation_p.E125D			O75391	SPAG7_HUMAN	sperm associated antigen 7	125	R3H.					nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						GGTCCCATTCCTCTCCACGAC	0.542													11	191					0	0	0	0	G	4863359	C	G	4863359	3	3	53	1	0	0	0	0	1	0	0	0	15073	680	24	4	320	4	SPAG7	17	4863359	Missense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08		4863359	76331851	66	10189											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	51					0	0	0	0	A	7577539	G	A	7577539	3	1	53	1	0	0	0	0	1	0	0	0	16476	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	2714180	7577539	73617671	67	10190											
TP53	7157	broad.mit.edu	37	chr17	7578392	7578392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgctatctgagcagcgctCatggtgggggcagcgcctca	7	8	14	12	3	3	1	2	1	1	0	4	1	3	1	1	3	3	4	1	3	1	1			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:7578392C>T	ENST00000420246.2	-	5	670	c.538G>A	c.(538-540)Gag>Aag	p.E180K	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.E180K|TP53_ENST00000413465.2_Missense_Mutation_p.E180K|TP53_ENST00000455263.2_Missense_Mutation_p.E180K|TP53_ENST00000269305.4_Missense_Mutation_p.E180K|TP53_ENST00000359597.4_Missense_Mutation_p.E180K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	180	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in a sporadic cancer; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E180*(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.E180K(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E180Q(1)|p.R81fs*24(1)|p.E180>DGRCPHQ(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E180fs*6(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGCAGCGCTCATGGTGGGGG	0.637		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	63					0	0	0	0	T	7578392	C	T	7578392	3	4	53	1	0	0	0	0	1	0	0	0	16476	835	29	2	760	2	TP53	17	7578392	Missense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	853	7578392	73616818	68	10191											
WNK4	65266	broad.mit.edu	37	chr17	40947945	40947945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagccatcccagcccaGtgtggatgaactactcctac	9	8	8	16	0	0	2	0	2	0	0	2	3	2	3	5	1	5	0	5	1	3	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:40947945G>C	ENST00000246914.5	+	16	3346	c.3325G>C	c.(3325-3327)Gtg>Ctg	p.V1109L		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1109					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCCCAGCCCAGTGTGGATGAA	0.592													24	66					0	0	0	0	C	40947945	G	C	40947945	3	2	53	1	0	0	0	0	1	0	0	0	17476	1029	36	4	3387	4	WNK4	17	40947945	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	33369553	40947945	40247265	69	10192											
MED13	9969	broad.mit.edu	37	chr17	60045413	60045413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctcatatattgcagtaaGatctctaaaaaagctttttg	14	15	5	7	0	2	1	1	0	1	1	3	1	2	1	1	0	3	3	1	0	7	8			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:60045413G>A	ENST00000397786.2	-	18	4250	c.4174C>T	c.(4174-4176)Ctt>Ttt	p.L1392F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1392					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTGCAGTAAGATCTCTAAAA	0.348													21	56					0	0	0	0	A	60045413	G	A	60045413	3	1	53	1	0	0	0	0	1	0	0	0	9499	942	33	2	2402	2	MED13	17	60045413	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	19097468	60045413	21149797	70	10193											
CACNG4	27092	broad.mit.edu	37	chr17	65021069	65021069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctggcaggatctacagccGcaagaacaacatcgtcctca	12	7	9	13	2	2	1	1	0	1	1	4	2	3	2	2	2	5	3	2	2	4	1			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:65021069G>A	ENST00000262138.3	+	3	400	c.398G>A	c.(397-399)cGc>cAc	p.R133H		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	133					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ATCTACAGCCGCAAGAACAAC	0.672													4	100					0	0	0	0	A	65021069	G	A	65021069	3	1	53	1	0	0	0	0	1	0	0	0	2584	1087	38	1	408	1	CACNG4	17	65021069	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	4975656	65021069	16174141	71	10194											
EVPL	2125	broad.mit.edu	37	chr17	74005785	74005785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagctccctggccagcgtCgcgttcttggtcctctcctc	2	12	9	18	3	3	0	1	0	2	0	8	0	5	0	4	2	2	2	4	2	0	2	rs140332207		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:74005785C>T	ENST00000301607.3	-	22	3754	c.3501G>A	c.(3499-3501)gcG>gcA	p.A1167A	EVPL_ENST00000586740.1_Silent_p.A1189A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1167	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGCCAGCGTCGCGTTCTTGG	0.627													8	66					0	0	0	0	T	74005785	C	T	74005785	2	4	53	1	0	0	0	0	0	0	0	1	5330	871	31	1		1	EVPL	17	74005785	Silent	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	8984716	74005785	7189425	72	10195											
ARHGAP28	79822	broad.mit.edu	37	chr18	6890051	6890051	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgcggcccacatcatccgCctaatgcttaagtaccagaa	12	8	7	14	2	1	1	1	0	0	1	2	1	2	1	4	1	3	2	4	1	4	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr18:6890051C>T	ENST00000419673.2	+	12	1441	c.1224C>T	c.(1222-1224)cgC>cgT	p.R408R	ARHGAP28_ENST00000532996.1_Silent_p.R390R|ARHGAP28_ENST00000400091.2_Silent_p.R567R|ARHGAP28_ENST00000418986.1_Silent_p.R408R|ARHGAP28_ENST00000314319.3_Silent_p.R408R|ARHGAP28_ENST00000262227.3_Silent_p.R515R|ARHGAP28_ENST00000531294.1_Silent_p.R403R|ARHGAP28_ENST00000383472.4_Silent_p.R567R	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	390					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ACATCATCCGCCTAATGCTTA	0.443													75	189					0	0	0	0	T	6890051	C	T	6890051	2	4	53	1	0	0	0	0	0	0	0	1	879	726	26	4		4	ARHGAP28	18	6890051	Silent	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08		6890051	71187197	73	10196											
TWSG1	57045	broad.mit.edu	37	chr18	9360008	9360008	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagaaggcaattgctcCtgctgtaaggagtgcatgct	9	9	14	9	1	0	1	0	0	0	1	1	3	1	2	2	3	4	6	2	3	3	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr18:9360008C>G	ENST00000262120.5	+	3	353	c.162C>G	c.(160-162)tcC>tcG	p.S54S	TWSG1_ENST00000581641.1_Silent_p.S54S	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	54	Cys-rich.									breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						GCAATTGCTCCTGCTGTAAGG	0.438													78	58					0	0	0	0	G	9360008	C	G	9360008	2	3	53	1	0	0	0	0	0	0	0	1	16881	668	24	4		4	TWSG1	18	9360008	Silent	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	2469957	9360008	68717240	74	10197											
ROCK1	6093	broad.mit.edu	37	chr18	18624129	18624135	+	Frame_Shift_Del	DEL	GTTATCA	GTTATCA	-																															ccagatttatccagcagcatGttatcaggcttcacatctct																										TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr18:18624129_18624135delGTTATCA	ENST00000399799.1	-	6	1543_1549	c.603_609delTGATAAC	c.(601-609)ccfs	p.PDN201fs		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	201	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CCAGCAGCATGTTATCAGGCTTCACAT	0.319													19	63	---	---	---	---					-	18624135	GTTATCA	-	18624129	7	5	53	1	0	1	0	1	0	0	0	0	13602	1368	48	0	3567	0	ROCK1	18	18624129	Frame_Shift_Del	DEL	GTTATCA	TCGA-BB-A5HZ-01A-21D-A28R-08	9264121	18624129	59453119	75	10198											
PLIN4	729359	broad.mit.edu	37	chr19	4512223	4512223	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgtgtctacacctgtctgGacagcccccttggccacatt	6	11	9	15	0	2	0	0	0	2	0	2	1	2	1	4	2	2	1	4	2	1	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:4512223G>T	ENST00000301286.3	-	3	1706	c.1707C>A	c.(1705-1707)gtC>gtA	p.V569V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	569	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CACCTGTCTGGACAGCCCCCT	0.612													96	152					1.38319e-45	1.65679e-45	1	0	T	4512223	G	T	4512223	2	4	53	1	0	0	0	0	0	0	0	1	12164	1161	41	2		2	PLIN4	19	4512223	Silent	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08		4512223	54616760	76	10199											
ACTL9	284382	broad.mit.edu	37	chr19	8808664	8808664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtgctccagcaggtggcGccagatgagctcggcggcat	6	7	16	12	4	0	2	0	1	0	1	3	2	1	2	2	4	3	4	2	4	0	0			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:8808664G>A	ENST00000324436.3	-	1	508	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	130						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGCAGGTGGCGCCAGATGAGC	0.687													10	119					0	0	0	0	A	8808664	G	A	8808664	3	1	53	1	0	0	0	0	1	0	0	0	203	1087	38	1	866	1	ACTL9	19	8808664	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	4296441	8808664	50320319	77	10200											
ZNF491	126069	broad.mit.edu	37	chr19	11917304	11917304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttcgaatccatgaaaGaactcacactggggagaagc	13	9	10	9	1	2	3	1	1	1	2	4	5	3	3	1	2	2	1	1	2	4	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:11917304G>T	ENST00000323169.5	+	3	867	c.536G>T	c.(535-537)aGa>aTa	p.R179I	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						ATCCATGAAAGAACTCACACT	0.428													18	62					2.35188e-11	2.56355e-11	1	0	T	11917304	G	T	11917304	3	4	53	1	0	0	0	0	1	0	0	0	18037	942	33	2	538	2	ZNF491	19	11917304	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	3108640	11917304	47211679	78	10201											
TSHZ3	57616	broad.mit.edu	37	chr19	31769409	31769409	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggttgtgatggtaggtgtGacaggcgtctccacaatggg	8	10	17	6	1	1	2	0	2	1	0	2	2	1	2	1	5	0	2	1	5	2	2			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:31769409G>A	ENST00000240587.4	-	2	1617	c.1290C>T	c.(1288-1290)gtC>gtT	p.V430V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	430					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGGTAGGTGTGACAGGCGTCT	0.582													40	132					0	0	0	0	A	31769409	G	A	31769409	2	1	53	1	0	0	0	0	0	0	0	1	16720	1277	45	2		2	TSHZ3	19	31769409	Silent	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	19852105	31769409	27359574	79	10202											
RYR1	6261	broad.mit.edu	37	chr19	38976680	38976680	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggggcagcagaggccccGgcccgcctcagccctgccat	5	4	14	18	2	1	1	1	0	0	1	1	1	1	1	6	4	3	3	6	4	0	0			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:38976680G>A	ENST00000355481.4	+	34	5516	c.5385G>A	c.(5383-5385)ccG>ccA	p.P1795P	RYR1_ENST00000360985.3_Silent_p.P1795P|RYR1_ENST00000359596.3_Silent_p.P1795P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1795	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGAGGCCCCGGCCCGCCTCA	0.716													19	63					0	0	0	0	A	38976680	G	A	38976680	2	1	53	1	0	0	0	0	0	0	0	1	13853	1103	39	1		1	RYR1	19	38976680	Silent	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	7207271	38976680	20152303	80	10203											
FCGBP	8857	broad.mit.edu	37	chr19	40432973	40432973	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccattacttactccggccGcaatcagcagctgttgcgta	8	12	8	13	3	1	0	1	0	0	0	3	0	3	0	3	1	5	5	3	1	4	5			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:40432973G>A	ENST00000221347.6	-	2	1303	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	432	IgGFc-binding.					extracellular region	protein binding	p.C432C(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TACTCCGGCCGCAATCAGCAG	0.582													26	59					0	0	0	0	A	40432973	G	A	40432973	2	1	53	1	0	0	0	0	0	0	0	1	5823	1079	38	1		1	FCGBP	19	40432973	Silent	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	1456293	40432973	18696010	81	10204											
POU2F2	5452	broad.mit.edu	37	chr19	42599578	42599578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgtgcagctgctcggCgatcagcaggatctcctctg	6	10	11	14	2	3	0	1	0	2	0	6	2	4	1	2	2	4	4	2	2	0	0			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:42599578C>T	ENST00000389341.5	-	11	1009	c.943G>A	c.(943-945)Gcc>Acc	p.A315T	POU2F2_ENST00000529952.1_Missense_Mutation_p.A331T|POU2F2_ENST00000560398.1_Missense_Mutation_p.A337T|POU2F2_ENST00000529067.1_Missense_Mutation_p.A315T|POU2F2_ENST00000526816.2_Missense_Mutation_p.A331T|POU2F2_ENST00000560558.1_Missense_Mutation_p.A276T|POU2F2_ENST00000342301.4_Missense_Mutation_p.A331T|POU2F2_ENST00000533720.1_Missense_Mutation_p.A315T	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	331					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				AGCTGCTCGGCGATCAGCAGG	0.647													23	51					0	0	0	0	T	42599578	C	T	42599578	3	4	53	1	0	0	0	0	1	0	0	0	12343	768	27	1	464	1	POU2F2	19	42599578	Missense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	2166605	42599578	16529405	82	10205											
PSG3	5671	broad.mit.edu	37	chr19	43236961	43236961	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattcagggtgactgggtcActgcggctggcactcactgg	7	9	15	10	1	3	2	3	1	0	1	3	2	3	2	0	5	1	2	0	5	0	1			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:43236961A>T	ENST00000327495.5	-	3	868	c.684T>A	c.(682-684)agT>agA	p.S228R	PSG3_ENST00000595140.1_Missense_Mutation_p.S228R	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	228	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGACTGGGTCACTGCGGCTGG	0.522													137	450					0	0	0	0	T	43236961	A	T	43236961	3	4	53	1	0	0	0	0	1	0	0	0	12735	156	6	5	618	5	PSG3	19	43236961	Missense_Mutation	SNP	A	TCGA-BB-A5HZ-01A-21D-A28R-08	637383	43236961	15892022	83	10206											
IGLON5	402665	broad.mit.edu	37	chr19	51825371	51825371	+	Frame_Shift_Del	DEL	T	T	-																															ctgccgacaactacacagtgTgtgaaggtgacaacgccacc																										TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:51825371delT	ENST00000270642.8	+	2	133	c.133delT	c.(133-135)gtfs	p.C45fs		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	45	Ig-like C2-type 1.					extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						CTACACAGTGTGTGAAGGTGA	0.632													35	124	---	---	---	---					-	51825371	T	-	51825371	7	5	53	1	0	1	0	1	0	0	0	0	7648	1696	59	0	139	0	IGLON5	19	51825371	Frame_Shift_Del	DEL	T	TCGA-BB-A5HZ-01A-21D-A28R-08	8588410	51825371	7303612	84	10207											
KIR2DL1	3802	broad.mit.edu	37	chr19	55294964	55294964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtaatggaccaagagtctGcaggaaacagaacagcgaat	16	5	12	8	2	1	2	0	0	1	2	1	5	1	4	1	3	4	2	1	3	5	1			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:55294964G>T	ENST00000336077.6	+	7	884	c.844G>T	c.(844-846)Gca>Tca	p.A282S	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A308S|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.A282S	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	282					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CCAAGAGTCTGCAGGAAACAG	0.512													32	142					1.836e-18	2.12898e-18	1	0	T	55294964	G	T	55294964	3	4	53	1	0	0	0	0	1	0	0	0	8368	1319	46	4	870	4	KIR2DL1	19	55294964	Missense_Mutation	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08	3469593	55294964	3834019	85	10208											
NEURL2	140825	broad.mit.edu	37	chr20	44518946	44518946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagcaaacacgtccaccaCcgcgtagaggggctgcgcag	11	3	14	13	4	0	1	0	0	0	1	1	2	1	2	3	3	3	4	3	3	3	1			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr20:44518946C>A	ENST00000372518.4	-	1	980	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	229	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				ACGTCCACCACCGCGTAGAGG	0.667											OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	59					7.93312e-07	8.39524e-07	1	0	A	44518946	C	A	44518946	3	1	53	1	0	0	0	0	1	0	0	0	10416	507	18	4	180	4	NEURL2	20	44518946	Missense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08		44518946	18506574	86	10209											
ARFGEF2	10564	broad.mit.edu	37	chr20	47604842	47604842	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaatttttttctccaggCaaactctgtttgctagtgct	7	17	7	10	1	2	0	0	0	2	0	4	1	2	0	1	1	3	4	1	1	3	5			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr20:47604842C>A	ENST00000371917.4	+	17	2278	c.2276_splice	c.e17-1	p.Q760_splice		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	760	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTTCTCCAGGCAAACTCTGTT	0.418													11	32					0.010729	0.0110327	1	0	A	47604842	C	A	47604842	5	1	53	1	0	0	0	0	0	0	1	0	855	724	25	4	2344	4	ARFGEF2	20	47604842	Splice_Site	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08	3085896	47604842	15420678	87	10210											
TIAM1	7074	broad.mit.edu	37	chr21	32639224	32639224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgggaagtgtgcttgcgcCccaggctggcatgcttttct	5	11	14	11	2	1	0	0	0	1	0	1	1	1	1	2	3	4	4	2	3	1	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr21:32639224C>T	ENST00000286827.3	-	5	536	c.65G>A	c.(64-66)gGg>gAg	p.G22E	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.G22E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	22					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTGCTTGCGCCCCAGGCTGGC	0.582													19	34					0	0	0	0	T	32639224	C	T	32639224	3	4	53	1	0	0	0	0	1	0	0	0	15984	623	22	4	4810	4	TIAM1	21	32639224	Missense_Mutation	SNP	C	TCGA-BB-A5HZ-01A-21D-A28R-08		32639224	15490671	88	10211											
ZNF280A	129025	broad.mit.edu	37	chr22	22869062	22869062	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacgcagctgaggcatttaAaggtggtgtgagtcttctgt	8	13	13	7	1	3	2	1	2	2	0	3	2	3	2	0	3	1	3	0	3	2	3			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr22:22869062A>C	ENST00000302097.3	-	2	1145	c.893T>G	c.(892-894)tTt>tGt	p.F298C		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GAGGCATTTAAAGGTGGTGTG	0.403													45	93					0	0	0	0	C	22869062	A	C	22869062	3	2	53	1	0	0	0	0	1	0	0	0	17909	14	1	5	739	5	ZNF280A	22	22869062	Missense_Mutation	SNP	A	TCGA-BB-A5HZ-01A-21D-A28R-08		22869062	28435504	89	10212											
SLITRK4	139065	broad.mit.edu	37	chrX	142716900	142716900	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtccatcttttttattGgttttgtggtcatgcttcct	4	21	7	9	0	3	0	2	0	1	0	5	0	5	0	2	2	1	2	2	2	1	7			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chrX:142716900G>T	ENST00000381779.4	-	2	2250	c.2025C>A	c.(2023-2025)acC>acA	p.T675T	SLITRK4_ENST00000356928.1_Silent_p.T675T|SLITRK4_ENST00000338017.4_Silent_p.T675T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	675						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)					CTTTTTTATTGGTTTTGTGGT	0.483													49	54					2.43277e-16	2.79128e-16	1	0	T	142716900	G	T	142716900	2	4	53	1	0	0	0	0	0	0	0	1	14833	1335	47	4		4	SLITRK4	23	142716900	Silent	SNP	G	TCGA-BB-A5HZ-01A-21D-A28R-08		142716900	12553660	90	10213											
XKR8	55113	broad.mit.edu	37	chr1	28293495	28293495	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggctgcctgtgggatgCggctgcttctttctgggcct	1	14	15	11	1	2	0	0	0	2	0	2	1	2	1	2	4	3	3	2	4	0	2			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:28293495C>T	ENST00000373884.5	+	3	1580	c.972C>T	c.(970-972)tgC>tgT	p.C324C		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	324						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CTGTGGGATGCGGCTGCTTCT	0.637													28	48					0	0	0	0	T	28293495	C	T	28293495	2	4	54	1	0	0	0	0	0	0	0	1	17533	776	27	1		1	XKR8	1	28293495	Silent	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08		28293495	220957126	1	10214											
NASP	4678	broad.mit.edu	37	chr1	46079780	46079780	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactttagtctcttcaagaaAatgaggaggaggagattggg	13	11	13	4	0	2	3	1	1	1	2	3	6	2	5	0	4	1	0	0	4	5	5			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:46079780A>C	ENST00000350030.3	+	8	1606	c.1519A>C	c.(1519-1521)Aat>Cat	p.N507H	NASP_ENST00000351223.3_Missense_Mutation_p.N168H|NASP_ENST00000372052.4_Missense_Mutation_p.N141H|NASP_ENST00000402363.3_Missense_Mutation_p.N509H|NASP_ENST00000537798.1_Missense_Mutation_p.N443H|NASP_ENST00000530073.1_3'UTR	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	507	Glu-rich (acidic).|Histone-binding.				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					TCTTCAAGAAAATGAGGAGGA	0.338													26	36					0	0	0	0	C	46079780	A	C	46079780	3	2	54	1	0	0	0	0	1	0	0	0	10242	14	1	5	1626	5	NASP	1	46079780	Missense_Mutation	SNP	A	TCGA-BB-A6UM-01A-12D-A34J-08	17786285	46079780	203170841	2	10215											
ANKRD13C	81573	broad.mit.edu	37	chr1	70758195	70758195	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctaaaacaagtccattcAccaggtaaaagtctgccaaa	17	9	5	10	0	3	0	1	0	2	0	4	0	4	0	3	1	2	1	3	1	6	4			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:70758195A>G	ENST00000370944.4	-	9	1404	c.1091T>C	c.(1090-1092)gTg>gCg	p.V364A	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.V329A	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	364					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AAGTCCATTCACCAGGTAAAA	0.323													13	30					0	0	0	0	G	70758195	A	G	70758195	3	3	54	1	0	0	0	0	1	0	0	0	643	159	6	5	554	5	ANKRD13C	1	70758195	Missense_Mutation	SNP	A	TCGA-BB-A6UM-01A-12D-A34J-08	24678415	70758195	178492426	3	10216											
BCAR3	8412	broad.mit.edu	37	chr1	94140190	94140190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggtgaaggtttcgccGtgccggtcctgccatgggct	5	10	15	11	3	0	2	0	2	0	0	2	2	1	2	4	4	2	2	4	4	2	1			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:94140190G>A	ENST00000370244.1	-	4	585	c.297C>T	c.(295-297)caC>caT	p.H99H	BCAR3_ENST00000370243.1_Silent_p.H99H|BCAR3_ENST00000260502.6_Silent_p.H99H	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	99					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGGTTTCGCCGTGCCGGTCCT	0.527													10	26					0	0	0	0	A	94140190	G	A	94140190	2	1	54	1	0	0	0	0	0	0	0	1	1353	1136	40	1		1	BCAR3	1	94140190	Silent	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	23381995	94140190	155110431	4	10217											
CELSR2	1952	broad.mit.edu	37	chr1	109810668	109810668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtctgccacacaggacGtgcacttcactgaggtgggg	7	8	15	11	1	2	1	1	1	1	0	2	2	2	2	1	5	2	2	1	5	0	1			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:109810668G>A	ENST00000271332.3	+	17	6365	c.6304G>A	c.(6304-6306)Gtg>Atg	p.V2102M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2102					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CACACAGGACGTGCACTTCAC	0.652													16	35					0	0	0	0	A	109810668	G	A	109810668	3	1	54	1	0	0	0	0	1	0	0	0	3251	1145	40	1	6370	1	CELSR2	1	109810668	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	15670478	109810668	139439953	5	10218											
SPAG17	200162	broad.mit.edu	37	chr1	118527386	118527386	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatccattaggtaattctGtgttgtctcaatttccttcc	9	18	5	9	0	2	0	1	0	2	0	6	0	5	0	3	1	0	2	3	1	5	7			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:118527386G>A	ENST00000336338.5	-	41	5754	c.5689C>T	c.(5689-5691)Cag>Tag	p.Q1897*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1897						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGGTAATTCTGTGTTGTCTCA	0.318													22	36					0	0	0	0	A	118527386	G	A	118527386	4	1	54	1	0	0	0	0	0	1	0	0	15069	1386	48	4	1014	4	SPAG17	1	118527386	Nonsense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	8716718	118527386	130723235	6	10219											
KIF3C	3797	broad.mit.edu	37	chr2	26204037	26204037	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgccttgttctgcctctcGctgccagccaggtccacgag	4	10	10	17	2	2	0	0	0	2	0	4	1	3	0	6	1	4	2	6	1	0	2			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:26204037G>A	ENST00000264712.3	-	1	1329	c.750C>T	c.(748-750)agC>agT	p.S250S	KIF3C_ENST00000405914.1_Silent_p.S250S	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	250	Kinesin-motor.				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)					TCTGCCTCTCGCTGCCAGCCA	0.642													18	53					0	0	0	0	A	26204037	G	A	26204037	2	1	54	1	0	0	0	0	0	0	0	1	8353	1078	38	1		1	KIF3C	2	26204037	Silent	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08		26204037	216995336	7	10220											
SPAST	6683	broad.mit.edu	37	chr2	32289009	32289009	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccgcccctcccgccgccGggccggcccctccgcccgag	1	2	11	27	7	0	0	0	0	0	0	2	1	2	0	12	2	0	0	12	2	0	0			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:32289009G>C	ENST00000315285.3	+	1	234	c.109G>C	c.(109-111)Ggg>Cgg	p.G37R	SPAST_ENST00000345662.1_Missense_Mutation_p.G37R	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	37	Required for interaction with ATL1.|Required for interaction with RTN1.|Required for midbody localization.|Required for nuclear localization.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					tcccgccgccgggccggcccc	0.701													9	7					0	0	0	0	C	32289009	G	C	32289009	3	2	54	1	0	0	0	0	1	0	0	0	15087	1116	39	3	111	3	SPAST	2	32289009	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	6084972	32289009	210910364	8	10221											
CNNM4	26504	broad.mit.edu	37	chr2	97474459	97474459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcagcgtccgggcactcGtggacttgcagtacatcaag	9	9	11	12	3	2	0	2	0	0	0	4	1	3	1	1	2	3	3	1	2	2	3			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:97474459G>A	ENST00000377075.2	+	6	2208	c.2110G>A	c.(2110-2112)Gtg>Atg	p.V704M	CNNM4_ENST00000540067.1_Missense_Mutation_p.V191M	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	704					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCGGGCACTCGTGGACTTGCA	0.557													14	28					0	0	0	0	A	97474459	G	A	97474459	3	1	54	1	0	0	0	0	1	0	0	0	3645	1145	40	1	2132	1	CNNM4	2	97474459	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	65185450	97474459	145724914	9	10222											
CLASP1	23332	broad.mit.edu	37	chr2	122176222	122176222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggaggaaagccccgagcagGgcttgtatctcggctgctct	7	9	14	11	2	2	0	0	0	2	0	3	3	2	2	2	4	3	5	2	4	2	2			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:122176222G>A	ENST00000263710.4	-	23	2685	c.2296C>T	c.(2296-2298)Cct>Tct	p.P766S	CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000545861.1_Intron|CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000541859.1_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	766	Interaction with microtubules, MAPRE1 and MAPRE3.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCCCGAGCAGGGCTTGTATCT	0.597													29	57					0	0	0	0	A	122176222	G	A	122176222	3	1	54	1	0	0	0	0	1	0	0	0	3484	1232	43	4	2416	4	CLASP1	2	122176222	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	24701763	122176222	121023151	10	10223											
LRP1B	53353	broad.mit.edu	37	chr2	141115623	141115623	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagatccatagggatgcAttttttattactacaagcaa	13	13	8	7	0	0	1	0	0	0	1	1	3	1	2	1	2	4	2	1	2	6	6			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:141115623A>G	ENST00000389484.3	-	74	12291	c.11320T>C	c.(11320-11322)Tgc>Cgc	p.C3774R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3774	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGGGATGCATTTTTTATTA	0.388										TSP Lung(27;0.18)			46	66					0	0	0	0	G	141115623	A	G	141115623	3	3	54	1	0	0	0	0	1	0	0	0	9019	217	8	5	2551	5	LRP1B	2	141115623	Missense_Mutation	SNP	A	TCGA-BB-A6UM-01A-12D-A34J-08	18939401	141115623	102083750	11	10224											
ZEB2	9839	broad.mit.edu	37	chr2	145161594	145161594	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttcattcttctcgtggcgGtacttgatgtgctccttcag	4	17	9	11	2	5	1	2	1	3	0	7	1	6	1	1	2	2	2	1	2	1	6			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:145161594G>A	ENST00000558170.2	-	6	1880	c.696C>T	c.(694-696)taC>taT	p.Y232Y	ZEB2_ENST00000303660.4_Silent_p.Y232Y|ZEB2_ENST00000539609.3_Silent_p.Y208Y|ZEB2_ENST00000409487.3_Silent_p.Y232Y	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	232						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCTCGTGGCGGTACTTGATGT	0.557													4	102					0	0	0	0	A	145161594	G	A	145161594	2	1	54	1	0	0	0	0	0	0	0	1	17719	1256	44	4		4	ZEB2	2	145161594	Silent	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	4045971	145161594	98037779	12	10225											
RIF1	55183	broad.mit.edu	37	chr2	152319494	152319494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcctccctttcgaataatGagtgtggttctcttgacaaa	10	14	8	9	1	1	2	0	2	1	0	5	3	3	2	2	1	0	1	2	1	3	4			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:152319494G>A	ENST00000243326.4	+	29	3943	c.3460G>A	c.(3460-3462)Gag>Aag	p.E1154K	RIF1_ENST00000428287.2_Missense_Mutation_p.E1154K|RIF1_ENST00000430328.2_Missense_Mutation_p.E1154K|RIF1_ENST00000444746.2_Missense_Mutation_p.E1154K|RIF1_ENST00000453091.2_Missense_Mutation_p.E1154K			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1154					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTCGAATAATGAGTGTGGTTC	0.388													16	23					0	0	0	0	A	152319494	G	A	152319494	3	1	54	1	0	0	0	0	1	0	0	0	13442	1291	45	2	3574	2	RIF1	2	152319494	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	7157900	152319494	90879879	13	10226											
FSIP2	401024	broad.mit.edu	37	chr2	186672341	186672341	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcacaagagattatacAaaattgtgtaaccagtggat	16	11	9	5	0	1	1	1	0	0	1	1	4	1	3	1	2	2	1	1	2	6	4			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:186672341A>G	ENST00000343098.5	+	17	18575	c.18575A>G	c.(18574-18576)cAa>cGa	p.Q6192R	FSIP2_ENST00000424728.1_Missense_Mutation_p.Q6103R	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAGATTATACAAAATTGTGTA	0.358													33	39					0	0	0	0	G	186672341	A	G	186672341	3	3	54	1	0	0	0	0	1	0	0	0	6123	130	5	5	18641	5	FSIP2	2	186672341	Missense_Mutation	SNP	A	TCGA-BB-A6UM-01A-12D-A34J-08	34352847	186672341	56527032	14	10227											
COL6A3	1293	broad.mit.edu	37	chr2	238267677	238267677	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaccgtggaaatacacctaCccttcttccaggattccctt	9	11	5	16	1	1	0	0	0	1	0	3	2	3	2	6	2	2	0	6	2	3	6			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:238267677C>T	ENST00000295550.4	-	20	6861		c.e20+1		COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AATACACCTACCCTTCTTCCA	0.423													106	196					0	0	0	0	T	238267677	C	T	238267677	5	4	54	1	0	0	0	0	0	0	1	0	3731	521	18	4	3224	4	COL6A3	2	238267677	Splice_Site	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08	51595336	238267677	4931696	15	10228											
SUCLG2	8801	broad.mit.edu	37	chr3	67568714	67568714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctagattttcggccatcCgctgagcttggctgtccttt	5	14	10	12	2	0	2	0	1	0	1	3	2	2	2	4	2	2	3	4	2	1	5			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr3:67568714C>T	ENST00000307227.5	-	6	644	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	SUCLG2_ENST00000492795.1_Missense_Mutation_p.R206Q|SUCLG2_ENST00000493112.1_Missense_Mutation_p.R206Q	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	206	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TTCGGCCATCCGCTGAGCTTG	0.393													80	62					0	0	0	0	T	67568714	C	T	67568714	3	4	54	1	0	0	0	0	1	0	0	0	15455	652	23	1	849	1	SUCLG2	3	67568714	Missense_Mutation	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08		67568714	130453716	16	10229											
FRMD4B	23150	broad.mit.edu	37	chr3	69242854	69242854	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacacctaattcggtattcGtttattgcattttcaatctc	9	17	4	11	2	2	0	1	0	1	0	5	0	2	0	2	1	1	3	2	1	4	9			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr3:69242854G>A	ENST00000542259.1	-	18	1948	c.1497C>T	c.(1495-1497)aaC>aaT	p.N499N	FRMD4B_ENST00000478263.1_Silent_p.N205N|FRMD4B_ENST00000398540.3_Silent_p.N553N			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	553						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTCGGTATTCGTTTATTGCAT	0.383													15	22					0	0	0	0	A	69242854	G	A	69242854	2	1	54	1	0	0	0	0	0	0	0	1	6100	1136	40	1		1	FRMD4B	3	69242854	Silent	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	1674140	69242854	128779576	17	10230											
ST3GAL6	10402	broad.mit.edu	37	chr3	98506994	98506994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcacaatgaccctaatacGacagtgattctcactgcttt	12	13	5	11	1	2	2	2	2	1	0	3	3	2	2	1	0	2	1	1	0	3	5			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr3:98506994G>A	ENST00000265261.6	+	7	614	c.192G>A	c.(190-192)acG>acA	p.T64T	ST3GAL6_ENST00000394162.1_Silent_p.T182T|ST3GAL6_ENST00000483910.1_Silent_p.T182T|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	182					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						ACCCTAATACGACAGTGATTC	0.388													43	143					0	0	0	0	A	98506994	G	A	98506994	2	1	54	1	0	0	0	0	0	0	0	1	15309	1045	37	1		1	ST3GAL6	3	98506994	Silent	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	29264140	98506994	99515436	18	10231											
ARAP2	116984	broad.mit.edu	37	chr4	36126568	36126568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctccatattttttaattCtttccttgtcatcttgcgta	7	21	4	9	1	3	0	1	0	2	0	5	0	5	0	2	0	2	2	2	0	3	9	rs144280242	byFrequency	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr4:36126568C>A	ENST00000303965.4	-	22	4151	c.3662G>T	c.(3661-3663)aGa>aTa	p.R1221I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1221	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTTTAATTCTTTCCTTGTC	0.358													30	52					8.4185e-14	8.67621e-14	1	0	A	36126568	C	A	36126568	3	1	54	1	0	0	0	0	1	0	0	0	841	913	32	2	1500	2	ARAP2	4	36126568	Missense_Mutation	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08		36126568	155027708	19	10232											
SEMA5A	9037	broad.mit.edu	37	chr5	9044681	9044681	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccccacggcgatcatgTggaacatgttgaactctagg	10	9	11	11	2	3	1	2	1	1	0	3	3	3	2	2	3	3	1	2	3	3	2			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr5:9044681T>C	ENST00000382496.5	-	22	3574	c.2909A>G	c.(2908-2910)cAc>cGc	p.H970R	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	970					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGCGATCATGTGGAACATGTT	0.522													17	26					0	0	0	0	C	9044681	T	C	9044681	3	2	54	1	0	0	0	0	1	0	0	0	14124	1696	59	5	323	5	SEMA5A	5	9044681	Missense_Mutation	SNP	T	TCGA-BB-A6UM-01A-12D-A34J-08		9044681	171870579	20	10233											
PCDHB5	26167	broad.mit.edu	37	chr5	140516218	140516218	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacattaaaaaacttttacaCcctagtgacacagagaacac	18	8	4	11	0	0	2	0	1	0	1	0	3	0	2	1	0	3	0	1	0	6	4			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr5:140516218C>G	ENST00000231134.5	+	1	1419	c.1202C>G	c.(1201-1203)aCc>aGc	p.T401S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		401	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTTTTACACCCTAGTGACA	0.493													45	46					0	0	0	0	G	140516218	C	G	140516218	3	3	54	1	0	0	0	0	1	0	0	0	11616	507	18	4	1204	4	PCDHB5	5	140516218	Missense_Mutation	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08	131471537	140516218	40399042	21	10234											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811289	140811289	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagatggaagtgcaagcAatggataatgcaggatattc	15	9	11	6	0	0	1	0	0	0	1	1	4	0	4	1	3	4	3	1	3	6	4			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr5:140811289A>G	ENST00000252085.3	+	1	1105	c.963A>G	c.(961-963)gcA>gcG	p.A321A	PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGCAAGCAATGGATAATG	0.493													56	93					0	0	0	0	G	140811289	A	G	140811289	2	3	54	1	0	0	0	0	0	0	0	1	11624	117	5	5		5	PCDHGA12	5	140811289	Silent	SNP	A	TCGA-BB-A6UM-01A-12D-A34J-08	295071	140811289	40103971	22	10235											
GEMIN5	25929	broad.mit.edu	37	chr5	154311746	154311746	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatttcatcatcatggcctcGaagcctatgaataacttctc	11	13	6	11	1	4	1	3	1	1	0	6	3	4	1	2	1	2	0	2	1	4	4			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr5:154311746G>A	ENST00000285873.7	-	4	649	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	192					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCATGGCCTCGAAGCCTATGA	0.378													49	58					0	0	0	0	A	154311746	G	A	154311746	4	1	54	1	0	0	0	0	0	1	0	0	6382	1066	37	1	4052	1	GEMIN5	5	154311746	Nonsense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	13500457	154311746	26603514	23	10236											
SCAND3	114821	broad.mit.edu	37	chr6	28543105	28543105	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgagacttcccatggacAattttcaattctggccaaat	11	13	7	10	0	3	1	1	1	2	1	4	3	4	2	2	2	0	0	2	2	3	4			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr6:28543105A>G	ENST00000452236.2	-	3	1994	c.1377T>C	c.(1375-1377)atT>atC	p.I459I		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	459	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCCCATGGACAATTTTCAATT	0.433													38	62					0	0	0	0	G	28543105	A	G	28543105	2	3	54	1	0	0	0	0	0	0	0	1	13962	126	5	5		5	SCAND3	6	28543105	Silent	SNP	A	TCGA-BB-A6UM-01A-12D-A34J-08		28543105	142571962	24	10237											
C6orf165	154313	broad.mit.edu	37	chr6	88138483	88138483	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctgagagagtgatgcAatgtcatcttaatggagcga	11	12	11	7	1	2	3	1	2	1	1	3	6	3	4	1	1	2	1	1	1	2	2			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr6:88138483A>G	ENST00000507897.1	+	9	1183	c.1100A>G	c.(1099-1101)cAa>cGa	p.Q367R	C6ORF165_ENST00000369562.4_Missense_Mutation_p.Q367R			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	367										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAGTGATGCAATGTCATCTT	0.373													38	45					0	0	0	0	G	88138483	A	G	88138483	3	3	54	1	0	0	0	0	1	0	0	0	2362	130	5	5	1130	5	C6orf165	6	88138483	Missense_Mutation	SNP	A	TCGA-BB-A6UM-01A-12D-A34J-08	59595378	88138483	82976584	25	10238											
FOXO3	2309	broad.mit.edu	37	chr6	108985068	108985068	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgatgatgcgcctctctcGcccatgctctacagcagctc	7	9	9	16	3	2	1	0	1	2	0	5	3	2	1	2	0	5	3	2	0	1	1			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr6:108985068G>A	ENST00000406360.1	+	2	1375	c.1032G>A	c.(1030-1032)tcG>tcA	p.S344S	FOXO3_ENST00000343882.6_Silent_p.S344S|FOXO3_ENST00000540898.1_Silent_p.S124S	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	344					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CGCCTCTCTCGCCCATGCTCT	0.582													18	36					0	0	0	0	A	108985068	G	A	108985068	2	1	54	1	0	0	0	0	0	0	0	1	6071	1074	38	1		1	FOXO3	6	108985068	Silent	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	20846585	108985068	62129999	26	10239											
IGF2R	3482	broad.mit.edu	37	chr6	160494482	160494482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctcctggcacacgcCgctggcctgcgagcaagcgg	5	8	12	16	4	2	0	0	0	2	0	3	1	2	0	3	3	3	3	3	3	1	2			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr6:160494482C>T	ENST00000356956.1	+	34	5076	c.4928C>T	c.(4927-4929)cCg>cTg	p.P1643L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1643					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGGCACACGCCGCTGGCCTGC	0.607													24	21					0	0	0	0	T	160494482	C	T	160494482	3	4	54	1	0	0	0	0	1	0	0	0	7629	652	23	1	5062	1	IGF2R	6	160494482	Missense_Mutation	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08	51509414	160494482	10620585	27	10240											
ACTB	60	broad.mit.edu	37	chr7	5569271	5569271	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgtcgacgacgagcgcGgcgatatcatcatccatggt	8	9	12	12	7	2	0	2	0	0	0	4	4	3	0	2	2	1	1	2	2	1	2			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr7:5569271G>A	ENST00000331789.5	-	2	209	c.18C>T	c.(16-18)gcC>gcT	p.A6A		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	6					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGACGAGCGCGGCGATATCAT	0.716													17	30					0	0	0	0	A	5569271	G	A	5569271	2	1	54	1	0	0	0	0	0	0	0	1	193	1103	39	1		1	ACTB	7	5569271	Silent	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08		5569271	153569392	28	10241											
THSD7A	221981	broad.mit.edu	37	chr7	11415434	11415434	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatatgttacatgtcggcaTctccatcataggctaaggtt	10	15	8	8	1	2	0	1	0	1	0	4	0	2	0	1	3	1	4	1	3	5	6			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr7:11415434T>A	ENST00000423059.3	-	28	5212	c.4961A>T	c.(4960-4962)gAt>gTt	p.D1654V	AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000599875.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1654						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CATGTCGGCATCTCCATCATA	0.408										HNSCC(18;0.044)			38	42					0	0	0	0	A	11415434	T	A	11415434	3	1	54	1	0	0	0	0	1	0	0	0	15973	1435	50	5	16	5	THSD7A	7	11415434	Missense_Mutation	SNP	T	TCGA-BB-A6UM-01A-12D-A34J-08	5846163	11415434	147723229	29	10242											
STAG3	10734	broad.mit.edu	37	chr7	99787121	99787121	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccaactgagtgtgcacCaagataacaatcagcgtcag	13	7	8	13	1	2	2	2	1	0	1	3	2	3	2	3	0	4	1	3	0	4	1			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr7:99787121C>A	ENST00000426455.1	+	8	1176	c.769C>A	c.(769-771)Caa>Aaa	p.Q257K	STAG3_ENST00000394018.2_Missense_Mutation_p.Q199K|STAG3_ENST00000317296.5_Missense_Mutation_p.Q257K			Q9UJ98	STAG3_HUMAN	stromal antigen 3	257					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGTGTGCACCAAGATAACAA	0.483													5	161					0.000602214	0.000608237	1	0	A	99787121	C	A	99787121	3	1	54	1	0	0	0	0	1	0	0	0	15334	595	21	4	795	4	STAG3	7	99787121	Missense_Mutation	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08	88371687	99787121	59351542	30	10243											
TRPV5	56302	broad.mit.edu	37	chr7	142609710	142609710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgtcgcccatcatggCgatgaacaagttgagcatga	10	9	14	8	2	1	3	1	3	0	0	2	4	1	3	1	2	2	2	1	2	2	1	rs144202979		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr7:142609710C>T	ENST00000265310.1	-	13	2074	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	576					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCCATCATGGCGATGAACAAG	0.547													29	16					0	0	0	0	T	142609710	C	T	142609710	3	4	54	1	0	0	0	0	1	0	0	0	16694	768	27	1	475	1	TRPV5	7	142609710	Missense_Mutation	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08	42822589	142609710	16528953	31	10244											
RBM12B	389677	broad.mit.edu	37	chr8	94747263	94747263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaatcttcgtcggtttaaaCgttcagctttcatggcctgt	7	15	10	9	3	3	0	2	0	1	0	5	1	3	1	1	3	2	3	1	3	3	5			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr8:94747263C>T	ENST00000399300.2	-	3	1589	c.1376G>A	c.(1375-1377)cGt>cAt	p.R459H	RBM12B_ENST00000517700.1_Missense_Mutation_p.R459H|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	459	RRM 3.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCGGTTTAAACGTTCAGCTTT	0.393													64	105					0	0	0	0	T	94747263	C	T	94747263	3	4	54	1	0	0	0	0	1	0	0	0	13196	536	19	1	1633	1	RBM12B	8	94747263	Missense_Mutation	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08		94747263	51616759	32	10245											
TMEM67	91147	broad.mit.edu	37	chr8	94828673	94828673	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggtggatcaaagattttTgatttaacttcctgaataaa	14	16	7	4	0	1	3	1	2	0	1	2	4	2	4	1	2	1	0	1	2	5	7			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr8:94828673T>C	ENST00000453321.3	+	28	3039	c.2981T>C	c.(2980-2982)tTg>tCg	p.L994S	TMEM67_ENST00000409623.3_Missense_Mutation_p.L913S	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	994					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CAAAGATTTTTGATTTAACTT	0.274													26	45					0	0	0	0	C	94828673	T	C	94828673	3	2	54	1	0	0	0	0	1	0	0	0	16290	1821	63	5	3229	5	TMEM67	8	94828673	Missense_Mutation	SNP	T	TCGA-BB-A6UM-01A-12D-A34J-08	81410	94828673	51535349	33	10246											
ENPP2	5168	broad.mit.edu	37	chr8	120606013	120606013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtctccgacaaagatgaCgttgacacaccgatgcagtt	12	9	10	10	3	1	3	0	2	1	1	2	5	1	3	2	1	1	3	2	1	1	2			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr8:120606013C>T	ENST00000427067.2	-	12	1228	c.1048G>A	c.(1048-1050)Gtc>Atc	p.V350I	ENPP2_ENST00000075322.6_Missense_Mutation_p.V354I|ENPP2_ENST00000259486.6_Missense_Mutation_p.V406I|ENPP2_ENST00000522826.1_Missense_Mutation_p.V354I			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	354					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACAAAGATGACGTTGACACAC	0.383													21	256					0	0	0	0	T	120606013	C	T	120606013	3	4	54	1	0	0	0	0	1	0	0	0	5168	536	19	1	1666	1	ENPP2	8	120606013	Missense_Mutation	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08	25777340	120606013	25758009	34	10247											
KLHL38	340359	broad.mit.edu	37	chr8	124664536	124664536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcatgtatcgcttccGggcctggaggtcatgcttga	5	13	12	11	2	1	1	1	1	0	0	4	2	3	2	3	3	2	4	3	3	1	4			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr8:124664536G>A	ENST00000325995.7	-	1	654	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	211	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TATCGCTTCCGGGCCTGGAGG	0.552													36	58					0	0	0	0	A	124664536	G	A	124664536	3	1	54	1	0	0	0	0	1	0	0	0	8442	1115	39	1	1126	1	KLHL38	8	124664536	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	4058523	124664536	21699486	35	10248											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18826302	18826302	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcctgaagctgaagtcActtggttcaggaataaaagc	13	9	12	7	0	2	2	2	2	0	0	2	4	2	3	1	2	3	2	1	2	5	3			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr9:18826302A>G	ENST00000380548.4	+	22	4294	c.3955A>G	c.(3955-3957)Act>Gct	p.T1319A	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.T20A	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1319	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGCTGAAGTCACTTGGTTCAG	0.488													8	10					0	0	0	0	G	18826302	A	G	18826302	3	3	54	1	0	0	0	0	1	0	0	0	274	159	6	5	4045	5	ADAMTSL1	9	18826302	Missense_Mutation	SNP	A	TCGA-BB-A6UM-01A-12D-A34J-08		18826302	122387129	36	10249											
WNK2	65268	broad.mit.edu	37	chr9	96051728	96051728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgctctaccaggagcaCgtgcccacctcctcagcctc	7	8	7	19	1	3	0	1	0	2	0	5	1	4	1	5	1	5	2	5	1	1	1	rs56047895		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr9:96051728C>T	ENST00000297954.4	+	20	4803	c.4803C>T	c.(4801-4803)caC>caT	p.H1601H	WNK2_ENST00000427277.2_Silent_p.H1176H|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.H1564H|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Silent_p.H1213H			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1601					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACCAGGAGCACGTGCCCACCT	0.662													16	22					0	0	0	0	T	96051728	C	T	96051728	2	4	54	1	0	0	0	0	0	0	0	1	17474	535	19	1		1	WNK2	9	96051728	Silent	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08	77225426	96051728	45161703	37	10250											
IKBKAP	8518	broad.mit.edu	37	chr9	111631431	111631431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttccactgggttcttctGttgatctttggtggtataaa	7	17	10	7	0	3	1	0	1	3	0	4	1	4	1	1	3	1	4	1	3	3	7			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr9:111631431G>A	ENST00000374647.5	-	37	4270	c.3963C>T	c.(3961-3963)aaC>aaT	p.N1321N	IKBKAP_ENST00000537196.1_Silent_p.N972N	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1321					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGGTTCTTCTGTTGATCTTTG	0.473													42	47					0	0	0	0	A	111631431	G	A	111631431	2	1	54	1	0	0	0	0	0	0	0	1	7663	1368	48	4		4	IKBKAP	9	111631431	Silent	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	15579703	111631431	29582000	38	10251											
ADARB2	105	broad.mit.edu	37	chr10	1405960	1405960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttcttccagaccagctGcagtttgcacaagtggcccc	8	9	9	15	0	1	1	0	0	1	1	2	1	2	1	4	1	4	5	4	1	1	3			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:1405960G>T	ENST00000381312.1	-	3	665	c.340C>A	c.(340-342)Cag>Aag	p.Q114K		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	114					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CAGACCAGCTGCAGTTTGCAC	0.721													13	27					0.00316338	0.00316338	1	0	T	1405960	G	T	1405960	3	4	54	1	0	0	0	0	1	0	0	0	283	1328	46	4	1911	4	ADARB2	10	1405960	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08		1405960	134128787	39	10252											
NSUN6	221078	broad.mit.edu	37	chr10	18905212	18905212	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttcacactgttgtttttTaatattctttctagaaatgt	9	20	6	6	0	3	1	1	0	2	1	3	1	3	1	0	1	0	3	0	1	4	9			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:18905212T>A	ENST00000377304.4	-	4	740	c.322A>T	c.(322-324)Aaa>Taa	p.K108*		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	108							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGTTGTTTTTTAATATTCTTT	0.403													21	23					0	0	0	0	A	18905212	T	A	18905212	4	1	54	1	0	0	0	0	0	1	0	0	10753	1763	61	5	1119	5	NSUN6	10	18905212	Nonsense_Mutation	SNP	T	TCGA-BB-A6UM-01A-12D-A34J-08	17499252	18905212	116629535	40	10253											
SYT15	83849	broad.mit.edu	37	chr10	46968669	46968669	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctccactgtgcaggggCacccaatctcggccttgaag	8	8	10	15	1	2	1	0	1	2	0	4	1	2	1	3	3	1	2	3	3	2	1			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:46968669C>T	ENST00000374323.3	-	2	1013	c.426G>A	c.(424-426)gtG>gtA	p.V142V	SYT15_ENST00000374321.4_Silent_p.V89V|SYT15_ENST00000374325.3_Silent_p.V89V|SYT15_ENST00000503753.1_Silent_p.V89V			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	89						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGTGCAGGGGCACCCAATCTC	0.632													8	36					0	0	0	0	T	46968669	C	T	46968669	2	4	54	1	0	0	0	0	0	0	0	1	15562	697	25	4		4	SYT15	10	46968669	Silent	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08	28063457	46968669	88566078	41	10254											
CDH23	64072	broad.mit.edu	37	chr10	73472485	73472485	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgtcactgtcctggatgTgaatgacaaccggcccatct	8	11	10	12	2	2	2	1	2	1	0	4	3	3	3	3	2	1	1	3	2	2	1			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:73472485T>C	ENST00000224721.6	+	27	3304	c.3299T>C	c.(3298-3300)gTg>gCg	p.V1100A	C10orf105_ENST00000441508.2_3'UTR|C10orf105_ENST00000398786.2_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1095	Cadherin 10.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTCCTGGATGTGAATGACAAC	0.597													14	18					0	0	0	0	C	73472485	T	C	73472485	3	2	54	1	0	0	0	0	1	0	0	0	3137	1696	59	5	3697	5	CDH23	10	73472485	Missense_Mutation	SNP	T	TCGA-BB-A6UM-01A-12D-A34J-08	26503816	73472485	62062262	42	10255											
PTEN	5728	broad.mit.edu	37	chr10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaaagctggaaagggacGaactggtgtaatgatatgtg	13	10	14	4	1	0	1	0	1	0	0	0	4	0	3	0	3	2	3	0	3	6	3	rs121913292		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		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 cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|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|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain 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.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(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)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	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)			108	16					0	0	0	0	A	89692905	G	A	89692905	3	1	54	1	0	0	0	0	1	0	0	0	12817	1058	37	1	407	1	PTEN	10	89692905	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	16220420	89692905	45841842	43	10256											
SHOC2	8036	broad.mit.edu	37	chr10	112745399	112745399	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttacaggtgaattatgtaaCctcattacgctggatgtagc	11	14	9	7	1	1	1	1	1	0	0	1	2	1	2	1	2	4	3	1	2	6	6			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:112745399C>T	ENST00000369452.4	+	3	1062	c.717C>T	c.(715-717)aaC>aaT	p.N239N	SHOC2_ENST00000265277.5_Intron|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	239					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AATTATGTAACCTCATTACGC	0.328													20	40					0	0	0	0	T	112745399	C	T	112745399	2	4	54	1	0	0	0	0	0	0	0	1	14375	506	18	4		4	SHOC2	10	112745399	Silent	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08	23052494	112745399	22789348	44	10257											
SLC22A18	5002	broad.mit.edu	37	chr11	2929473	2929473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttcagtacctgtctcGgaaactgggcctggattcca	7	13	11	10	1	2	0	1	0	1	0	4	2	3	2	3	3	2	2	3	3	2	3			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr11:2929473G>A	ENST00000380574.1	+	3	586	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	SLC22A18_ENST00000312221.5_Missense_Mutation_p.R52Q|SLC22A18_ENST00000347936.2_Missense_Mutation_p.R52Q|SLC22A18_ENST00000449793.2_Missense_Mutation_p.R52Q			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	52					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		TACCTGTCTCGGAAACTGGGC	0.632													25	28					0	0	0	0	A	2929473	G	A	2929473	3	1	54	1	0	0	0	0	1	0	0	0	14537	1116	39	1	161	1	SLC22A18	11	2929473	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08		2929473	132077043	45	10258											
NELL1	4745	broad.mit.edu	37	chr11	20907004	20907004	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacaggatttatgagcgtgTgatagaccctccagatacca	12	11	9	9	1	0	4	0	2	0	2	1	5	1	5	3	1	3	0	3	1	4	5			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr11:20907004T>C	ENST00000298925.5	+	6	758	c.605T>C	c.(604-606)gTg>gCg	p.V202A	NELL1_ENST00000532434.1_Missense_Mutation_p.V174A|NELL1_ENST00000325319.5_Missense_Mutation_p.V117A|NELL1_ENST00000357134.5_Missense_Mutation_p.V174A			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	174	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TATGAGCGTGTGATAGACCCT	0.433													3	24					0	0	0	0	C	20907004	T	C	20907004	3	2	54	1	0	0	0	0	1	0	0	0	10403	1696	59	5	539	5	NELL1	11	20907004	Missense_Mutation	SNP	T	TCGA-BB-A6UM-01A-12D-A34J-08	17977531	20907004	114099512	46	10259											
OR10G4	390264	broad.mit.edu	37	chr11	123886380	123886380	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaatcttcctggtggtttaCgtgctcactgtgctggggaa	6	13	14	8	1	2	0	1	0	1	0	3	2	3	2	1	5	3	3	1	5	3	3			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr11:123886380C>T	ENST00000320891.4	+	1	99	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGGTGGTTTACGTGCTCACTG	0.567													53	19					0	0	0	0	T	123886380	C	T	123886380	2	4	54	1	0	0	0	0	0	0	0	1	10972	547	19	1		1	OR10G4	11	123886380	Silent	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08	102979376	123886380	11120136	47	10260											
NCAPD2	9918	broad.mit.edu	37	chr12	6624076	6624076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcattttgctagatcaccTggatggagaagtaggtggtc	9	12	14	6	0	1	2	1	0	0	2	2	4	1	3	1	4	2	3	1	4	3	4			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr12:6624076T>C	ENST00000315579.5	+	9	1776	c.977T>C	c.(976-978)cTg>cCg	p.L326P	NCAPD2_ENST00000545962.1_Missense_Mutation_p.L281P	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	326	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CTAGATCACCTGGATGGAGAA	0.478													24	46					0	0	0	0	C	6624076	T	C	6624076	3	2	54	1	0	0	0	0	1	0	0	0	10275	1580	55	5	1007	5	NCAPD2	12	6624076	Missense_Mutation	SNP	T	TCGA-BB-A6UM-01A-12D-A34J-08		6624076	127227819	48	10261											
CDKN1B	1027	broad.mit.edu	37	chr12	12870950	12870950	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggcgagccagcgcaaGtggaatttcgattttcagaa	13	8	13	7	3	1	2	1	0	0	2	2	6	1	3	1	2	2	1	1	2	4	3	rs140927518	byFrequency	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr12:12870950G>A	ENST00000228872.4	+	1	893	c.177G>A	c.(175-177)aaG>aaA	p.K59K	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Silent_p.K59K	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	59					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GCCAGCGCAAGTGGAATTTCG	0.577													46	65					0	0	0	0	A	12870950	G	A	12870950	2	1	54	1	0	0	0	0	0	0	0	1	3188	1020	36	4		4	CDKN1B	12	12870950	Silent	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	6246874	12870950	120980945	49	10262											
LIN52	91750	broad.mit.edu	37	chr14	74665639	74665639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagccagagagatgacaCgggggaaattcctcaatatt	13	9	10	9	1	1	3	1	1	0	2	3	5	3	4	3	2	1	0	3	2	3	4			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr14:74665639C>T	ENST00000555028.1	+	6	477	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 homolog (C. elegans)	104										breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		AGAGATGACACGGGGGAAATT	0.438													21	9					0	0	0	0	T	74665639	C	T	74665639	3	4	54	1	0	0	0	0	1	0	0	0	8863	527	19	1	332	1	LIN52	14	74665639	Missense_Mutation	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08		74665639	32683901	50	10263											
FEM1B	10116	broad.mit.edu	37	chr15	68582393	68582393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccgaaagctgtaaagctGatgtcgtagaactgttactc	11	11	10	9	2	0	2	0	1	0	1	2	3	0	2	1	0	5	5	1	0	6	3			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr15:68582393G>A	ENST00000306917.4	+	2	1312	c.697G>A	c.(697-699)Gat>Aat	p.D233N		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	233					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTGTAAAGCTGATGTCGTAGA	0.458													31	59					0	0	0	0	A	68582393	G	A	68582393	3	1	54	1	0	0	0	0	1	0	0	0	5855	1290	45	2	703	2	FEM1B	15	68582393	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08		68582393	33948999	51	10264											
THSD4	79875	broad.mit.edu	37	chr15	71953002	71953002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcctgggctaccaccGcgtcgtggagattcccgagg	7	6	13	15	4	0	1	0	0	0	1	2	3	1	1	5	3	2	1	5	3	1	2			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr15:71953002G>A	ENST00000355327.3	+	8	1420	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H	THSD4_ENST00000357769.4_Missense_Mutation_p.R69H|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R429H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	429						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGCTACCACCGCGTCGTGGAG	0.527													51	64					0	0	0	0	A	71953002	G	A	71953002	3	1	54	1	0	0	0	0	1	0	0	0	15972	1087	38	1	1312	1	THSD4	15	71953002	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	3370609	71953002	30578390	52	10265											
MPI	4351	broad.mit.edu	37	chr15	75189523	75189523	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctacctctcaatctatgAcccccctgtaccagacttca	9	10	3	19	0	3	2	2	1	2	1	4	2	3	2	7	0	2	1	7	0	4	4			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr15:75189523A>G	ENST00000352410.4	+	7	1083	c.1016A>G	c.(1015-1017)gAc>gGc	p.D339G	MPI_ENST00000566377.1_Intron|MPI_ENST00000563786.1_Missense_Mutation_p.D319G|MPI_ENST00000535694.1_Missense_Mutation_p.D289G|MPI_ENST00000323744.6_Missense_Mutation_p.D278G			P34949	MPI_HUMAN	mannose phosphate isomerase	339					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TCAATCTATGACCCCCCTGTA	0.532													4	129					0	0	0	0	G	75189523	A	G	75189523	3	3	54	1	0	0	0	0	1	0	0	0	9799	275	10	5	1042	5	MPI	15	75189523	Missense_Mutation	SNP	A	TCGA-BB-A6UM-01A-12D-A34J-08	3236521	75189523	27341869	53	10266											
ACAN	176	broad.mit.edu	37	chr15	89383306	89383306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgactttgacagggcgcagcGggcctgcctgcagaacagtg	8	6	15	12	3	0	2	0	1	0	1	0	3	0	2	2	2	4	2	2	2	1	1			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr15:89383306G>A	ENST00000439576.2	+	4	892	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	ACAN_ENST00000559004.1_Missense_Mutation_p.R173Q|ACAN_ENST00000352105.7_Missense_Mutation_p.R173Q|ACAN_ENST00000558207.1_Missense_Mutation_p.R173Q|ACAN_ENST00000561243.1_Missense_Mutation_p.R173Q	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	173					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGGGCGCAGCGGGCCTGCCTG	0.612													7	16					0	0	0	0	A	89383306	G	A	89383306	3	1	54	1	0	0	0	0	1	0	0	0	117	1116	39	1	528	1	ACAN	15	89383306	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	14193783	89383306	13148086	54	10267											
KIF7	374654	broad.mit.edu	37	chr15	90171708	90171708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcgtcgcagttcccgcCggggcttggacaaaggccca	6	7	14	14	4	0	0	0	0	0	0	3	1	1	1	3	5	0	4	3	5	1	2	rs73477443	by1000genomes	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr15:90171708C>T	ENST00000394412.3	-	19	4050	c.3974G>A	c.(3973-3975)cGg>cAg	p.R1325Q	KIF7_ENST00000558928.1_Intron	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1325					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CAGTTCCCGCCGGGGCTTGGA	0.672													36	49					0	0	0	0	T	90171708	C	T	90171708	3	4	54	1	0	0	0	0	1	0	0	0	8360	652	23	1	61	1	KIF7	15	90171708	Missense_Mutation	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08	788402	90171708	12359684	55	10268											
KIAA0556	23247	broad.mit.edu	37	chr16	27789277	27789277	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgcgaaacggaagcagagCgttgttgacccaggtcagtg	12	6	14	9	4	1	2	1	1	0	1	1	4	1	3	1	2	4	3	1	2	3	2			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr16:27789277C>T	ENST00000261588.4	+	27	4807	c.4788C>T	c.(4786-4788)agC>agT	p.S1596S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1596										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGAAGCAGAGCGTTGTTGACC	0.517													37	52					0	0	0	0	T	27789277	C	T	27789277	2	4	54	1	0	0	0	0	0	0	0	1	8234	767	27	1		1	KIAA0556	16	27789277	Silent	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08		27789277	62565476	56	10269											
SLC43A2	124935	broad.mit.edu	37	chr17	1479909	1479909	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acccacagagggtctccctgGagaggacccatcatggccag	10	5	12	14	0	2	2	1	0	1	2	3	4	2	3	4	4	0	0	4	4	0	0			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:1479909G>A	ENST00000571650.1	-	14	1848	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L	SLC43A2_ENST00000412517.3_Silent_p.L373L|SLC43A2_ENST00000382147.4_Silent_p.L514L|SLC43A2_ENST00000301335.4_Silent_p.L510L			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	510					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GGTCTCCCTGGAGAGGACCCA	0.657													8	11					0	0	0	0	A	1479909	G	A	1479909	2	1	54	1	0	0	0	0	0	0	0	1	14721	1161	41	2		2	SLC43A2	17	1479909	Silent	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08		1479909	79715301	57	10270											
CAMTA2	23125	broad.mit.edu	37	chr17	4883249	4883249	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgggtggggcagccccGtgacccttgagctcctcccc	4	8	14	15	1	0	2	0	2	0	0	2	2	2	2	6	4	2	3	6	4	1	2			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:4883249G>A	ENST00000361571.5	-	8	1776	c.1365C>T	c.(1363-1365)caC>caT	p.H455H	CAMTA2_ENST00000572543.1_Silent_p.H461H|CAMTA2_ENST00000414043.3_Silent_p.H479H|CAMTA2_ENST00000381311.5_Silent_p.H458H|CAMTA2_ENST00000358183.4_Silent_p.H456H|CAMTA2_ENST00000348066.3_Silent_p.H456H	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	456					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						gggCAGCCCCGTGACCCTTGA	0.617													48	62					0	0	0	0	A	4883249	G	A	4883249	2	1	54	1	0	0	0	0	0	0	0	1	2639	1136	40	1		1	CAMTA2	17	4883249	Silent	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	3403340	4883249	76311961	58	10271											
FAM83G	644815	broad.mit.edu	37	chr17	18881637	18881637	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaggtgtcacggatctTgatgcggttcatctggctgg	5	12	16	8	2	4	1	2	1	2	0	4	3	4	3	0	6	1	2	0	6	0	2			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:18881637T>G	ENST00000388995.6	-	5	1565	c.1342A>C	c.(1342-1344)Aag>Cag	p.K448Q	SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.K448Q|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.K448Q|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	448										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TCACGGATCTTGATGCGGTTC	0.647													5	6					0	0	0	0	G	18881637	T	G	18881637	3	3	54	1	0	0	0	0	1	0	0	0	5685	1821	63	5	1137	5	FAM83G	17	18881637	Missense_Mutation	SNP	T	TCGA-BB-A6UM-01A-12D-A34J-08	13998388	18881637	62313573	59	10272											
UNC119	9094	broad.mit.edu	37	chr17	26874807	26874807	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtagctggttgcggaaGtagtgcctctcgatcatgcg	7	12	14	8	3	2	1	1	1	1	0	3	3	2	2	1	2	4	4	1	2	3	4			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:26874807G>C	ENST00000484980.1	-	3	3374	c.213C>G	c.(211-213)taC>taG	p.Y71*	UNC119_ENST00000335765.4_Nonsense_Mutation_p.Y166*|UNC119_ENST00000470125.1_Nonsense_Mutation_p.Y71*|UNC119_ENST00000301032.4_Nonsense_Mutation_p.Y166*			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	166					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GGTTGCGGAAGTAGTGCCTCT	0.527											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	86					0	0	0	0	C	26874807	G	C	26874807	4	2	54	1	0	0	0	0	0	1	0	0	17078	1024	36	4	285	4	UNC119	17	26874807	Nonsense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	7993170	26874807	54320403	60	10273											
KIAA0100	9703	broad.mit.edu	37	chr17	26964012	26964012	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggatgctgctgtgataggTgatggagagcatggaaaggc	10	8	18	5	1	0	3	0	2	0	1	0	6	0	5	0	5	3	3	0	5	2	1			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:26964012T>A	ENST00000528896.2	-	15	2022	c.1948A>T	c.(1948-1950)Acc>Tcc	p.T650S	KIAA0100_ENST00000389003.3_Missense_Mutation_p.T507S|KIAA0100_ENST00000544884.1_Missense_Mutation_p.T507S	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	650						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTGTGATAGGTGATGGAGAGC	0.527													30	43					0	0	0	0	A	26964012	T	A	26964012	3	1	54	1	0	0	0	0	1	0	0	0	8205	1696	59	5	4859	5	KIAA0100	17	26964012	Missense_Mutation	SNP	T	TCGA-BB-A6UM-01A-12D-A34J-08	89205	26964012	54231198	61	10274											
C17orf102	400591	broad.mit.edu	37	chr17	32906251	32906251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgccgcagctggccggccCcattcgggtcccagcgctag	4	5	13	19	5	0	0	0	0	0	0	2	0	1	0	6	3	2	3	6	3	1	2			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:32906251C>T	ENST00000357754.1	-	1	137	c.49G>A	c.(49-51)Ggg>Agg	p.G17R		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	17										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						CTGGCCGGCCCCATTCGGGTC	0.607													11	15					0	0	0	0	T	32906251	C	T	32906251	3	4	54	1	0	0	0	0	1	0	0	0	1862	623	22	4	462	4	C17orf102	17	32906251	Missense_Mutation	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08	5942239	32906251	48288959	62	10275											
KRT37	8688	broad.mit.edu	37	chr17	39578364	39578364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctccagggcattcaccGtgcatctcagctccaggatc	8	8	8	17	1	2	0	2	0	1	0	6	1	4	1	5	2	2	3	5	2	0	1	rs140701476		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:39578364G>A	ENST00000225550.3	-	5	976	c.977C>T	c.(976-978)aCg>aTg	p.T326M	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	326	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGCATTCACCGTGCATCTCAG	0.592													31	38					0	0	0	0	A	39578364	G	A	39578364	3	1	54	1	0	0	0	0	1	0	0	0	8526	1145	40	1	384	1	KRT37	17	39578364	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	6672113	39578364	41616846	63	10276											
HSD17B1	3292	broad.mit.edu	37	chr17	40706443	40706443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgagcctgatcgagtgcgGcccagtgcacaccgccttca	7	8	11	15	3	1	2	1	2	0	0	2	3	1	2	4	1	3	1	4	1	0	2			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:40706443G>A	ENST00000585807.1	+	5	4280	c.560G>A	c.(559-561)gGc>gAc	p.G187D	RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.G188D|RP11-400F19.8_ENST00000585572.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	187					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	ATCGAGTGCGGCCCAGTGCAC	0.667													10	9					0	0	0	0	A	40706443	G	A	40706443	3	1	54	1	0	0	0	0	1	0	0	0	7428	1203	42	4	578	4	HSD17B1	17	40706443	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	1128079	40706443	40488767	64	10277											
MAST1	22983	broad.mit.edu	37	chr19	12969377	12969377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcggcaccgcgacacgcGgcagcgctttgccatgaaaa	9	5	14	13	6	0	1	0	1	0	0	0	2	0	1	2	3	3	3	2	3	2	1			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:12969377G>A	ENST00000251472.4	+	12	1229	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	MAST1_ENST00000591495.1_Missense_Mutation_p.R393Q	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	397	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGCGACACGCGGCAGCGCTTT	0.647													24	36					0	0	0	0	A	12969377	G	A	12969377	3	1	54	1	0	0	0	0	1	0	0	0	9393	1116	39	1	1236	1	MAST1	19	12969377	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08		12969377	46159606	65	10278											
FKBP8	23770	broad.mit.edu	37	chr19	18649033	18649033	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcggtcacctttggcGctggaggtgatagccttgat	6	10	14	11	2	1	2	1	2	0	0	1	3	1	3	3	5	1	1	3	5	1	3	rs140514472	byFrequency	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:18649033G>A	ENST00000597960.2	-	5	885	c.765C>T	c.(763-765)agC>agT	p.S255S	FKBP8_ENST00000222308.3_Silent_p.S255S|FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000596558.1_Silent_p.S254S|FKBP8_ENST00000453489.2_Silent_p.S283S			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	254					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CACCTTTGGCGCTGGAGGTGA	0.627													33	52					0	0	0	0	A	18649033	G	A	18649033	2	1	54	1	0	0	0	0	0	0	0	1	5959	1078	38	1		1	FKBP8	19	18649033	Silent	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	5679656	18649033	40479950	66	10279											
ZNF536	9745	broad.mit.edu	37	chr19	31025808	31025808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaccagcgctgcttcGcgacagaagcctgggctcgg	8	5	13	15	4	0	1	0	0	0	1	2	2	0	1	3	2	5	4	3	2	2	1			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:31025808G>A	ENST00000355537.3	+	3	2372	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	742					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGCTGCTTCGCGACAGAAGC	0.572													60	79					0	0	0	0	A	31025808	G	A	31025808	3	1	54	1	0	0	0	0	1	0	0	0	18069	1087	38	1	2231	1	ZNF536	19	31025808	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	12376775	31025808	28103175	67	10280											
CEACAM6	4680	broad.mit.edu	37	chr19	42260735	42260735	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggcccgcatacagtggtCgagagacaatataccccaat	13	6	10	12	2	0	1	0	0	0	1	1	3	0	1	3	2	2	1	3	2	5	3			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:42260735C>T	ENST00000199764.6	+	2	510	c.292C>T	c.(292-294)Cga>Tga	p.R98*	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	98	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ATACAGTGGTCGAGAGACAAT	0.458													9	296					0	0	0	0	T	42260735	C	T	42260735	4	4	54	1	0	0	0	0	0	1	0	0	3225	876	31	1	298	1	CEACAM6	19	42260735	Nonsense_Mutation	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08	11234927	42260735	16868248	68	10281											
IRGQ	126298	broad.mit.edu	37	chr19	44097143	44097143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggggccccaggggtgaCgaggatgagggcgtcgtagt	7	6	21	7	3	0	2	0	2	0	0	1	4	0	3	2	6	0	1	2	6	1	1			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:44097143C>T	ENST00000422989.1	-	3	1062	c.907G>A	c.(907-909)Gtc>Atc	p.V303I	L34079.2_ENST00000594374.1_Missense_Mutation_p.V16I|IRGQ_ENST00000602269.1_Missense_Mutation_p.V303I|IRGQ_ENST00000601520.1_5'UTR	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	303							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCAGGGGTGACGAGGATGAGG	0.692													14	33					0	0	0	0	T	44097143	C	T	44097143	3	4	54	1	0	0	0	0	1	0	0	0	7892	536	19	1	968	1	IRGQ	19	44097143	Missense_Mutation	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08	1836408	44097143	15031840	69	10282											
LMTK3	114783	broad.mit.edu	37	chr19	49004336	49004336	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaaggcgaggacctcctcGtctgacaggtggcggtaggg	8	6	17	10	4	1	1	0	1	1	0	3	4	2	2	2	6	0	1	2	6	2	1			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:49004336G>A	ENST00000600059.1	-	10	1295	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	LMTK3_ENST00000270238.3_Silent_p.D385D					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGACCTCCTCGTCTGACAGGT	0.662													3	3					0	0	0	0	A	49004336	G	A	49004336	2	1	54	1	0	0	0	0	0	0	0	1	8915	1136	40	1		1	LMTK3	19	49004336	Silent	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	4907193	49004336	10124647	70	10283											
LILRA1	11024	broad.mit.edu	37	chr19	55107774	55107774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttccttctgaccaaggCgggagcagctgatgcccccc	7	8	10	16	1	1	2	0	2	1	0	2	3	2	3	5	2	3	2	5	2	1	2			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:55107774C>T	ENST00000251372.3	+	7	1261	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	360	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.A360V(1)|p.A360E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGACCAAGGCGGGAGCAGCT	0.587													44	99					0	0	0	0	T	55107774	C	T	55107774	3	4	54	1	0	0	0	0	1	0	0	0	8838	768	27	1	1101	1	LILRA1	19	55107774	Missense_Mutation	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08	6103438	55107774	4021209	71	10284											
MORC3	23515	broad.mit.edu	37	chr21	37742037	37742037	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaacaatgtagtgctttgCaacatgtaaaggctgaatgc	16	10	9	6	0	0	1	0	1	0	0	0	1	0	1	0	1	5	5	0	1	8	3			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr21:37742037C>T	ENST00000400485.1	+	15	2447	c.2371C>T	c.(2371-2373)Caa>Taa	p.Q791*	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	791					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TAGTGCTTTGCAACATGTAAA	0.393													4	109					0	0	0	0	T	37742037	C	T	37742037	4	4	54	1	0	0	0	0	0	1	0	0	9773	711	25	4	2429	4	MORC3	21	37742037	Nonsense_Mutation	SNP	C	TCGA-BB-A6UM-01A-12D-A34J-08		37742037	10387858	72	10285											
KRTAP10-5	386680	broad.mit.edu	37	chr21	45999780	45999780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggcctgcatatggggcGgcagaggagggacacggagg	8	3	22	8	3	0	1	0	0	0	1	0	4	0	4	1	9	1	2	1	9	1	1			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr21:45999780G>A	ENST00000400372.1	-	1	701	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	226	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CATATGGGGCGGCAGAGGAGG	0.682													67	81					0	0	0	0	A	45999780	G	A	45999780	3	1	54	1	0	0	0	0	1	0	0	0	8564	1116	39	1	143	1	KRTAP10-5	21	45999780	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08	8257743	45999780	2130115	73	10286											
EP300	2033	broad.mit.edu	37	chr22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtatacatatcttacctcGatagtgttcatttcttccgt	9	17	6	9	2	3	0	1	0	2	0	5	2	4	0	2	0	2	2	2	0	5	8			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				113	16					0	0	0	0	A	41565529	G	A	41565529	3	1	54	1	0	0	0	0	1	0	0	0	5186	1058	37	1	4297	1	EP300	22	41565529	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08		41565529	9739037	74	10287											
BEND2	139105	broad.mit.edu	37	chrX	18189127	18189127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgtgtaacaaacctcggaGagcactaatcttattggggt	12	12	10	7	1	1	1	0	0	1	1	2	2	1	1	1	3	3	2	1	3	5	5			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chrX:18189127G>A	ENST00000380033.4	-	13	2311	c.2179C>T	c.(2179-2181)Ctc>Ttc	p.L727F	BEND2_ENST00000380030.3_Missense_Mutation_p.L636F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	727	BEN 2.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAACCTCGGAGAGCACTAATC	0.398													79	19					0	0	0	0	A	18189127	G	A	18189127	3	1	54	1	0	0	0	0	1	0	0	0	1402	942	33	2	254	2	BEND2	23	18189127	Missense_Mutation	SNP	G	TCGA-BB-A6UM-01A-12D-A34J-08		18189127	137081433	75	10288											
DVL1	1855	broad.mit.edu	37	chr1	1271635	1271635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccggacagggggtccccCgggtggcccccccaccactg	4	4	13	20	2	0	0	0	0	0	0	2	1	2	1	7	5	0	0	7	5	0	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:1271635C>T	ENST00000378888.5	-	15	2259	c.1975G>A	c.(1975-1977)Ggg>Agg	p.G659R	DVL1_ENST00000378891.5_Missense_Mutation_p.G634R			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	659					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGGGTCCCCCGGGTGGCCCC	0.716													4	6					0	0	0	0	T	1271635	C	T	1271635	3	4	55	1	0	0	0	0	1	0	0	0	4871	652	23	1	116	1	DVL1	1	1271635	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08		1271635	247978986	1	10289											
CLSTN1	22883	broad.mit.edu	37	chr1	9790619	9790619	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgccgggttgcgtTctgggggtcgccctgctccc	0	11	15	15	3	1	0	0	0	1	0	3	0	2	0	3	3	5	5	3	3	0	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:9790619T>A	ENST00000377298.4	-	19	3685	c.2893A>T	c.(2893-2895)Aac>Tac	p.N965Y	CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_Missense_Mutation_p.N955Y|CLSTN1_ENST00000377288.3_Missense_Mutation_p.N946Y	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	965					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGGGTTGCGTTCTGGGGGTCG	0.642													16	55					0	0	0	0	A	9790619	T	A	9790619	3	1	55	1	0	0	0	0	1	0	0	0	3591	1783	62	5	56	5	CLSTN1	1	9790619	Missense_Mutation	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	8518984	9790619	239460002	2	10290											
UBE4B	10277	broad.mit.edu	37	chr1	10132224	10132224	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccctctcagagtcttggtCtcaatgtccacaacatgacc	10	10	7	14	0	3	2	2	1	3	1	6	3	4	2	3	1	1	0	3	1	2	1			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:10132224C>G	ENST00000343090.6	+	2	238	c.163C>G	c.(163-165)Ctc>Gtc	p.L55V	UBE4B_ENST00000377157.3_5'UTR|UBE4B_ENST00000377153.1_Missense_Mutation_p.L55V|UBE4B_ENST00000253251.8_Missense_Mutation_p.L55V	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	55					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAGTCTTGGTCTCAATGTCCA	0.552													7	46					0	0	0	0	G	10132224	C	G	10132224	3	3	55	1	0	0	0	0	1	0	0	0	16979	913	32	2	169	2	UBE4B	1	10132224	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	341605	10132224	239118397	3	10291											
UBR4	23352	broad.mit.edu	37	chr1	19451155	19451155	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttctgttagaagctgagtAtaggcctcaaacacatcagc	13	11	8	9	0	3	2	2	1	1	1	3	2	3	2	1	1	3	3	1	1	5	4			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:19451155A>G	ENST00000375267.2	-	65	9471	c.9468T>C	c.(9466-9468)taT>taC	p.Y3156Y	UBR4_ENST00000375217.2_Silent_p.Y3149Y|UBR4_ENST00000375226.2_Silent_p.Y3132Y|UBR4_ENST00000375254.3_Silent_p.Y3156Y			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3156					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAAGCTGAGTATAGGCCTCAA	0.433													25	82					0	0	0	0	G	19451155	A	G	19451155	2	3	55	1	0	0	0	0	0	0	0	1	17000	456	16	5		5	UBR4	1	19451155	Silent	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	9318931	19451155	229799466	4	10292											
HSPG2	3339	broad.mit.edu	37	chr1	22191370	22191370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgatgtagcctggcgggcagCggcactcctccacctcgagg	6	6	14	15	4	0	0	0	0	0	0	3	2	2	0	4	4	2	3	4	4	1	1			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:22191370C>T	ENST00000374695.3	-	36	4671	c.4592G>A	c.(4591-4593)cGc>cAc	p.R1531H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1531	Laminin EGF-like 9; second part.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGCGGGCAGCGGCACTCCTC	0.682													4	13					0	0	0	0	T	22191370	C	T	22191370	3	4	55	1	0	0	0	0	1	0	0	0	7483	768	27	1	8831	1	HSPG2	1	22191370	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	2740215	22191370	227059251	5	10293											
DNALI1	7802	broad.mit.edu	37	chr1	38027685	38027685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcattctctcctcagatcGcagaattggagacggaaaag	12	8	12	9	2	2	3	1	0	1	3	5	5	3	4	1	3	0	2	1	3	3	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:38027685G>A	ENST00000296218.7	+	5	656	c.646G>A	c.(646-648)Gca>Aca	p.A216T	DNALI1_ENST00000541606.1_Missense_Mutation_p.A68T|DNALI1_ENST00000497858.1_3'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	194					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCTCAGATCGCAGAATTGGA	0.557											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	55					0	0	0	0	A	38027685	G	A	38027685	3	1	55	1	0	0	0	0	1	0	0	0	4695	1087	38	1	664	1	DNALI1	1	38027685	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	15836315	38027685	211222936	6	10294											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507187	74507187	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaactgttctgaattgtctcTttattttcttcaattagttt	9	22	4	6	0	4	1	1	1	3	0	5	1	4	1	0	0	1	2	0	0	5	9			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:74507187T>C	ENST00000354431.4	-	7	1619	c.1428A>G	c.(1426-1428)aaA>aaG	p.K476K	LRRIQ3_ENST00000395089.1_Silent_p.K476K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	476										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GAATTGTCTCTTTATTTTCTT	0.338													36	140					0	0	0	0	C	74507187	T	C	74507187	2	2	55	1	0	0	0	0	0	0	0	1	9094	1606	56	5		5	LRRIQ3	1	74507187	Silent	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	36479502	74507187	174743434	7	10295											
RPL5	6125	broad.mit.edu	37	chr1	93301939	93301939	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtggatggaggcttgtctAtccctcacaggtaagaatac	10	11	11	9	0	2	1	1	0	1	1	3	3	3	3	1	4	1	2	1	4	4	4			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:93301939A>G	ENST00000370321.3	+	5	607	c.517A>G	c.(517-519)Atc>Gtc	p.I173V		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	173					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AGGCTTGTCTATCCCTCACAG	0.468													24	53					0	0	0	0	G	93301939	A	G	93301939	3	3	55	1	0	0	0	0	1	0	0	0	13682	449	16	5	535	5	RPL5	1	93301939	Missense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	18794752	93301939	155948682	8	10296											
PLEKHO1	51177	broad.mit.edu	37	chr1	150128298	150128298	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcaagaggtatttgacctGagtgactatgagaagtgtga	13	12	12	4	0	1	6	1	5	0	2	1	7	1	6	1	1	0	1	1	1	4	4			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:150128298G>C	ENST00000369124.4	+	3	494	c.216G>C	c.(214-216)ctG>ctC	p.L72L	PLEKHO1_ENST00000025469.6_Silent_p.L72L|PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	72	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TATTTGACCTGAGTGACTATG	0.458													51	128					0	0	0	0	C	150128298	G	C	150128298	2	2	55	1	0	0	0	0	0	0	0	1	12156	1277	45	2		2	PLEKHO1	1	150128298	Silent	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	56826359	150128298	99122323	9	10297											
TRIM46	80128	broad.mit.edu	37	chr1	155152405	155152405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgcacacgcccccggCacctggtgagtgggcaggca	7	4	14	16	2	0	1	0	1	0	0	0	1	0	1	4	4	1	5	4	4	0	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:155152405C>A	ENST00000368382.1	+	8	1651	c.1514C>A	c.(1513-1515)gCa>gAa	p.A505E	TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.A402E|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.A528E|TRIM46_ENST00000368385.4_Missense_Mutation_p.A528E|TRIM46_ENST00000334634.4_Missense_Mutation_p.A528E|TRIM46_ENST00000468878.1_3'UTR	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	528	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACGCCCCCGGCACCTGGTGAG	0.647													8	18					1.12685e-05	1.15837e-05	1	0	A	155152405	C	A	155152405	3	1	55	1	0	0	0	0	1	0	0	0	16616	710	25	4	1613	4	TRIM46	1	155152405	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	5024107	155152405	94098216	10	10298											
TMEM79	84283	broad.mit.edu	37	chr1	156255506	156255506	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgaaccttcatgcccccccgGgtcacccaccccgaccccac	7	4	6	24	3	2	0	2	0	0	0	2	2	2	0	9	1	2	0	9	1	1	1			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:156255506G>T	ENST00000405535.2	+	2	660	c.489G>T	c.(487-489)cgG>cgT	p.R163R	TMEM79_ENST00000295694.5_Silent_p.R163R|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	163						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGCCCCCCCGGGTCACCCACC	0.657													10	36					0.00829132	0.00834811	1	0	T	156255506	G	T	156255506	2	4	55	1	0	0	0	0	0	0	0	1	16297	1219	43	4		4	TMEM79	1	156255506	Silent	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	1103101	156255506	92995115	11	10299											
TARBP1	6894	broad.mit.edu	37	chr1	234601437	234601437	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctctgaaagcgcatccatTaatggtccaataataaacta	15	11	5	10	1	1	1	0	1	1	0	4	1	3	1	2	1	2	1	2	1	7	4			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:234601437T>A	ENST00000040877.1	-	5	1265	c.1266A>T	c.(1264-1266)ttA>ttT	p.L422F		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	422					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCGCATCCATTAATGGTCCaa	0.303													5	26					0	0	0	0	A	234601437	T	A	234601437	3	1	55	1	0	0	0	0	1	0	0	0	15646	1751	61	5	3703	5	TARBP1	1	234601437	Missense_Mutation	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	78345931	234601437	14649184	12	10300											
TP53I3	9540	broad.mit.edu	37	chr2	24305861	24305861	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggagcccttcggggacAgtgacgtactgagcctggcc	8	7	15	11	2	0	3	0	3	0	0	1	5	0	5	3	4	3	1	3	4	1	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:24305861A>T	ENST00000238721.4	-	2	1154	c.300T>A	c.(298-300)acT>acA	p.T100T	TP53I3_ENST00000335934.4_Silent_p.T100T|TP53I3_ENST00000417886.1_Intron|TP53I3_ENST00000313482.4_Silent_p.T100T|TP53I3_ENST00000407482.1_Silent_p.T100T|FAM228B_ENST00000461972.1_Intron	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	100					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCGGGGACAGTGACGTACT	0.647													11	37					0	0	0	0	T	24305861	A	T	24305861	2	4	55	1	0	0	0	0	0	0	0	1	16482	175	7	5		5	TP53I3	2	24305861	Silent	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08		24305861	218893512	13	10301											
ITSN2	50618	broad.mit.edu	37	chr2	24533505	24533505	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcagaagacaatgatgttaTaggtgcagctggaggcaatg	13	8	14	6	1	0	3	0	1	0	2	0	4	0	4	0	3	2	5	0	3	5	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:24533505T>C	ENST00000355123.4	-	6	852	c.409A>G	c.(409-411)Ata>Gta	p.I137V	ITSN2_ENST00000406921.3_Missense_Mutation_p.I137V|ITSN2_ENST00000361999.3_Missense_Mutation_p.I137V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	137					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGATGTTATAGGTGCAGCT	0.448													19	51					0	0	0	0	C	24533505	T	C	24533505	3	2	55	1	0	0	0	0	1	0	0	0	7980	1406	49	5	4875	5	ITSN2	2	24533505	Missense_Mutation	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	227644	24533505	218665868	14	10302											
KIF3C	3797	broad.mit.edu	37	chr2	26204611	26204611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcatacacggcgtcaaagGtgaaggtcttgggcagctcc	10	8	12	11	2	3	1	2	1	1	0	4	1	4	1	1	4	2	2	1	4	3	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:26204611G>A	ENST00000264712.3	-	1	755	c.176C>T	c.(175-177)aCc>aTc	p.T59I	KIF3C_ENST00000405914.1_Missense_Mutation_p.T59I	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	59	Kinesin-motor.				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)					GGCGTCAAAGGTGAAGGTCTT	0.632													27	72					0	0	0	0	A	26204611	G	A	26204611	3	1	55	1	0	0	0	0	1	0	0	0	8353	1261	44	4	2237	4	KIF3C	2	26204611	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	1671106	26204611	216994762	15	10303											
ZFP36L2	678	broad.mit.edu	37	chr2	43452464	43452465	+	Frame_Shift_Ins	INS	-	-	G																															gccgctctcctcgaagggccINSggcacagctcggtcttgtag																										TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:43452464_43452465insG	ENST00000282388.3	-	2	771_772	c.478_479insC	c.(478-480)gccfs	p.A160fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	160					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTCGAAGGGCCGGCACAGCTCG	0.649													14	32	---	---	---	---					G	43452465	-	G	43452464	7	5	55	1	0	1	1	0	0	0	0	0	17742	652	23	0	1009	0	ZFP36L2	2	43452464	Frame_Shift_Ins	INS	-	TCGA-BB-A6UO-01A-12D-A34J-08	17247853	43452464	199746909	16	10304											
FIGN	55137	broad.mit.edu	37	chr2	164467739	164467739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaagtgcaggtgctggCtggctactataagtagaatg	12	9	15	5	0	0	1	0	0	0	1	0	3	0	2	0	4	3	5	0	4	7	4			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:164467739C>G	ENST00000333129.3	-	3	917	c.603G>C	c.(601-603)caG>caC	p.Q201H	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	201						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CAGGTGCTGGCTGGCTACTAT	0.552													15	36					0	0	0	0	G	164467739	C	G	164467739	3	3	55	1	0	0	0	0	1	0	0	0	5936	796	28	4	1680	4	FIGN	2	164467739	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	121015275	164467739	78731634	17	10305											
DYNC1I2	1781	broad.mit.edu	37	chr2	172569318	172569319	+	Frame_Shift_Ins	INS	-	-	C																															ccatcagttcttcagcttcaINSctcagattccgatttggggt																										TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:172569318_172569319insC	ENST00000534253.2	+	6	545_546	c.377_378insC	c.(376-378)ctcfs	p.L126fs	DYNC1I2_ENST00000409317.1_Frame_Shift_Ins_p.L120fs|DYNC1I2_ENST00000409197.1_Intron|DYNC1I2_ENST00000410079.3_Intron|DYNC1I2_ENST00000508530.1_Intron|DYNC1I2_ENST00000409773.1_Frame_Shift_Ins_p.L126fs|DYNC1I2_ENST00000409453.1_Frame_Shift_Ins_p.L126fs|DYNC1I2_ENST00000358002.6_Intron|DYNC1I2_ENST00000340296.4_Intron|DYNC1I2_ENST00000397119.3_Frame_Shift_Ins_p.L126fs|DYNC1I2_ENST00000263811.4_Frame_Shift_Ins_p.L120fs			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	126					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			CTTCAGCTTCACTCAGATTCCG	0.361													47	129	---	---	---	---					C	172569319	-	C	172569318	7	5	55	1	0	1	1	0	0	0	0	0	4879	159	6	0	395	0	DYNC1I2	2	172569318	Frame_Shift_Ins	INS	-	TCGA-BB-A6UO-01A-12D-A34J-08	8101579	172569318	70630055	18	10306											
NFE2L2	4780	broad.mit.edu	37	chr2	178095969	178095969	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctaagttcatctcttgtGagatgagcctccaagcggct	8	11	10	12	1	2	2	1	2	1	1	4	3	3	2	3	1	2	2	3	1	2	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:178095969G>A	ENST00000397062.3	-	5	1916	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L	NFE2L2_ENST00000464747.1_Silent_p.L438L|NFE2L2_ENST00000446151.2_Silent_p.L431L|NFE2L2_ENST00000397063.4_Silent_p.L438L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	454					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CATCTCTTGTGAGATGAGCCT	0.428			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			70	181					0	0	0	0	A	178095969	G	A	178095969	2	1	55	1	0	0	0	0	0	0	0	1	10438	1277	45	2		2	NFE2L2	2	178095969	Silent	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	5526651	178095969	65103404	19	10307											
IHH	3549	broad.mit.edu	37	chr2	219925177	219925177	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagtcggggccggagccGggcgggagacatggccgggg	5	3	23	10	5	0	1	0	0	0	1	1	3	0	2	3	8	2	1	3	8	0	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:219925177G>T	ENST00000295731.5	-	1	12	c.13C>A	c.(13-15)Cgg>Agg	p.R5R		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	5					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCGGAGCCGGGCGGGAGAC	0.776													9	7					1.12685e-05	1.15837e-05	1	0	T	219925177	G	T	219925177	2	4	55	1	0	0	0	0	0	0	0	1	7660	1115	39	3		3	IHH	2	219925177	Silent	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	41829208	219925177	23274196	20	10308											
HDAC11	79885	broad.mit.edu	37	chr3	13544481	13544481	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggaccgctttgccaagcGtaagctgctgcccctaccct	7	8	11	15	2	0	0	0	0	0	0	0	1	0	1	5	2	6	4	5	2	3	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:13544481G>A	ENST00000295757.3	+	8	832		c.e8+1		HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000522202.1_Splice_Site|HDAC11_ENST00000446613.2_Splice_Site|HDAC11_ENST00000404040.1_Splice_Site|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000402271.1_Splice_Site|HDAC11_ENST00000433119.1_Splice_Site|HDAC11_ENST00000437379.2_Splice_Site|HDAC11_ENST00000405025.1_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11						regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TTTGCCAAGCGTAAGCTGCTG	0.572													42	50					0	0	0	0	A	13544481	G	A	13544481	5	1	55	1	0	0	0	0	0	0	1	0	7056	1159	40	1	680	1	HDAC11	3	13544481	Splice_Site	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08		13544481	184477949	21	10309											
PRICKLE2	166336	broad.mit.edu	37	chr3	64133296	64133296	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggccgccccaggagggaTttcttgcagtgagcacagca	10	7	13	11	1	1	1	0	1	1	0	1	3	1	3	3	3	3	3	3	3	1	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:64133296T>C	ENST00000295902.6	-	7	1455	c.870A>G	c.(868-870)aaA>aaG	p.K290K	PRICKLE2_ENST00000564377.1_Silent_p.K346K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	290	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCAGGAGGGATTTCTTGCAGT	0.532													26	42					0	0	0	0	C	64133296	T	C	64133296	2	2	55	1	0	0	0	0	0	0	0	1	12567	1490	52	5		5	PRICKLE2	3	64133296	Silent	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	50588815	64133296	133889134	22	10310											
MORC1	27136	broad.mit.edu	37	chr3	108819312	108819312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttcaaggttgacagcCgttttttggatcgtccaaag	10	13	10	8	2	1	2	1	2	0	0	3	3	2	3	2	2	2	2	2	2	3	5			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:108819312C>T	ENST00000232603.5	-	5	348	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	MORC1_ENST00000483760.1_Missense_Mutation_p.R89Q	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	89					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGTTGACAGCCGTTTTTTGGA	0.398													42	99					0	0	0	0	T	108819312	C	T	108819312	3	4	55	1	0	0	0	0	1	0	0	0	9771	652	23	1	2784	1	MORC1	3	108819312	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	44686016	108819312	89203118	23	10311											
CPNE4	131034	broad.mit.edu	37	chr3	131415428	131415428	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatgcaagctcaacataGtcgtcattgccagataattc	13	12	7	9	1	2	2	2	1	0	1	4	2	2	2	1	0	4	2	1	0	5	5			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:131415428G>A	ENST00000512055.1	-	9	2591	c.465C>T	c.(463-465)gaC>gaT	p.D155D	CPNE4_ENST00000511604.1_Silent_p.D155D|CPNE4_ENST00000429747.1_Silent_p.D155D|CPNE4_ENST00000502818.1_Silent_p.D173D|CPNE4_ENST00000512332.1_Silent_p.D173D			Q96A23	CPNE4_HUMAN	copine IV	155	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GCTCAACATAGTCGTCATTGC	0.413													31	90					0	0	0	0	A	131415428	G	A	131415428	2	1	55	1	0	0	0	0	0	0	0	1	3844	1020	36	4		4	CPNE4	3	131415428	Silent	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	22596116	131415428	66607002	24	10312											
EPHB3	2049	broad.mit.edu	37	chr3	184296225	184296225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcgacacggctctgattCggagtacacggagaagctgc	10	6	14	11	4	1	2	0	1	1	1	2	5	1	3	0	3	4	4	0	3	2	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:184296225C>T	ENST00000330394.2	+	9	2224	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	591						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)			GGCTCTGATTCGGAGTACACG	0.627													29	68					0	0	0	0	T	184296225	C	T	184296225	3	4	55	1	0	0	0	0	1	0	0	0	5214	893	31	1	1806	1	EPHB3	3	184296225	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	52880797	184296225	13726205	25	10313											
IL1RAP	3556	broad.mit.edu	37	chr3	190338140	190338140	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcctcattgccttaatttCaaataatggaaattacacat	14	16	3	8	0	2	0	2	0	0	0	3	1	3	1	2	1	2	0	2	1	5	6			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:190338140C>G	ENST00000412504.2	+	5	866	c.614C>G	c.(613-615)tCa>tGa	p.S205*	IL1RAP_ENST00000447382.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000443369.2_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000439062.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000434491.1_Nonsense_Mutation_p.S64*|IL1RAP_ENST00000317757.3_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000422485.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000422940.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000072516.3_Nonsense_Mutation_p.S205*			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	205	Ig-like C2-type 2.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GCCTTAATTTCAAATAATGGA	0.318													39	67					0	0	0	0	G	190338140	C	G	190338140	4	3	55	1	0	0	0	0	0	1	0	0	7713	838	29	2	628	2	IL1RAP	3	190338140	Nonsense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	6041915	190338140	7684290	26	10314											
MUC4	4585	broad.mit.edu	37	chr3	195511937	195511937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagagaggtggcgtgacCtgtggatgctgaggaagtgt	10	8	19	4	1	0	3	0	2	0	1	0	7	0	6	1	5	1	1	1	5	2	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:195511937C>T	ENST00000463781.3	-	2	6973	c.6514G>A	c.(6514-6516)Ggt>Agt	p.G2172S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	951					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCTGTGGATGCT	0.577													4	4					0	0	0	0	T	195511937	C	T	195511937	3	4	55	1	0	0	0	0	1	0	0	0	10048	681	24	4		4	MUC4	3	195511937	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	5173797	195511937	2510493	27	10315											
PAK2	5062	broad.mit.edu	37	chr3	196509546	196509546	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taacggagaactggaagataAgcctccagcacctcctgtgc	12	7	10	12	1	0	2	0	0	0	2	2	4	2	3	4	2	5	1	4	2	4	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:196509546A>G	ENST00000327134.3	+	2	351	c.29A>G	c.(28-30)aAg>aGg	p.K10R		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	10					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CTGGAAGATAAGCCTCCAGCA	0.418													4	199					0	0	0	0	G	196509546	A	G	196509546	3	3	55	1	0	0	0	0	1	0	0	0	11472	72	3	5	31	5	PAK2	3	196509546	Missense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	997609	196509546	1512884	28	10316											
GAK	2580	broad.mit.edu	37	chr4	877870	877870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgtccaggtcaccctttgCataactggaattaaaaagaa	15	11	7	8	0	1	1	1	0	0	1	2	2	2	2	2	2	2	1	2	2	7	4			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr4:877870C>T	ENST00000314167.4	-	12	1320	c.1210G>A	c.(1210-1212)Gca>Aca	p.A404T	GAK_ENST00000511163.1_Missense_Mutation_p.A325T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	404	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCACCCTTTGCATAACTGGAA	0.532													11	51					0	0	0	0	T	877870	C	T	877870	3	4	55	1	0	0	0	0	1	0	0	0	6244	710	25	4	2793	4	GAK	4	877870	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08		877870	190276406	29	10317											
SLC4A4	8671	broad.mit.edu	37	chr4	72399991	72399991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttccaccgtttggagaaaaCccctggtgggtgtgccttgc	6	11	13	11	1	0	1	0	0	0	1	1	2	1	1	5	3	3	2	5	3	2	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr4:72399991C>A	ENST00000340595.3	+	15	2392	c.2196C>A	c.(2194-2196)aaC>aaA	p.N732K	SLC4A4_ENST00000264485.5_Missense_Mutation_p.N776K|SLC4A4_ENST00000425175.1_Missense_Mutation_p.N776K|SLC4A4_ENST00000351898.6_Missense_Mutation_p.N776K	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	776						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTGGAGAAAACCCCTGGTGGG	0.418													33	68					1.61788e-16	1.78818e-16	1	0	A	72399991	C	A	72399991	3	1	55	1	0	0	0	0	1	0	0	0	14744	506	18	4	2515	4	SLC4A4	4	72399991	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	71522121	72399991	118754285	30	10318											
CCNI	10983	broad.mit.edu	37	chr4	77977406	77977406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaggatttattacctcaTcttcctcaacagtcttggca	11	14	6	10	0	4	1	2	1	2	0	5	2	5	2	2	2	2	1	2	2	4	5			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr4:77977406T>C	ENST00000237654.4	-	4	890	c.314A>G	c.(313-315)gAt>gGt	p.D105G	CCNI_ENST00000537948.1_Missense_Mutation_p.D91G|CCNI_ENST00000504697.1_5'UTR	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	105					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						TATTACCTCATCTTCCTCAAC	0.333													18	62					0	0	0	0	C	77977406	T	C	77977406	3	2	55	1	0	0	0	0	1	0	0	0	2955	1435	50	5	835	5	CCNI	4	77977406	Missense_Mutation	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	5577415	77977406	113176870	31	10319											
FBXW7	55294	broad.mit.edu	37	chr4	153332540	153332558	+	Frame_Shift_Del	DEL	TGTGTATGTTCATCTTCTC	TGTGTATGTTCATCTTCTC	-																															agttcgtgacactgttagtaTgtgtatgttcatcttctctg																								rs61748169	byFrequency	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr4:153332540_153332558delTGTGTATGTTCATCTTCTC	ENST00000281708.4	-	2	1627_1645	c.398_416delGAGAAGATGAACATACACA	c.(397-417)atfs	p.REDEHTH133fs	FBXW7_ENST00000603841.1_Frame_Shift_Del_p.REDEHTH133fs|FBXW7_ENST00000604872.1_Frame_Shift_Del_p.REDEHTH133fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.REDEHTH133fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	133			R -> G (in dbSNP:rs6842544).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.H139N(2)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTGTTAGTATGTGTATGTTCATCTTCTCTGCTACTATC	0.434			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								16	68	---	---	---	---					-	153332558	TGTGTATGTTCATCTTCTC	-	153332540	7	5	55	1	0	1	0	1	0	0	0	0	5814	1464	51	0	2167	0	FBXW7	4	153332540	Frame_Shift_Del	DEL	TGTGTATGTTCATCTTCTC	TCGA-BB-A6UO-01A-12D-A34J-08	75355134	153332540	37821736	32	10320											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576265	33576265	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaatcagacttgttgcaTcctcctcagtcaggactggt	9	12	9	11	0	3	1	3	0	0	1	5	2	5	2	2	2	1	3	2	2	1	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:33576265T>A	ENST00000504830.1	-	19	4201	c.3866A>T	c.(3865-3867)gAt>gTt	p.D1289V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1204V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1289	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACTTGTTGCATCCTCCTCAGT	0.488										HNSCC(64;0.19)			94	212					0	0	0	0	A	33576265	T	A	33576265	3	1	55	1	0	0	0	0	1	0	0	0	257	1435	50	5	942	5	ADAMTS12	5	33576265	Missense_Mutation	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08		33576265	147338995	33	10321											
NIPBL	25836	broad.mit.edu	37	chr5	36976406	36976406	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcacaacagggacctatatAtgatgaagtggaattggatg	15	10	11	5	0	1	2	1	2	0	0	1	5	1	5	1	3	1	0	1	3	6	4			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:36976406A>G	ENST00000282516.8	+	9	1896	c.1397A>G	c.(1396-1398)tAt>tGt	p.Y466C	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.Y466C	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	466					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGACCTATATATGATGAAGTG	0.408													30	66					0	0	0	0	G	36976406	A	G	36976406	3	3	55	1	0	0	0	0	1	0	0	0	10498	449	16	5	1427	5	NIPBL	5	36976406	Missense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	3400141	36976406	143938854	34	10322											
NUP155	9631	broad.mit.edu	37	chr5	37329378	37329378	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatctgtgcttcaccaccaTacctatttttatgacaagag	11	14	5	11	0	3	2	2	1	1	1	3	2	3	2	3	0	2	1	3	0	4	6			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:37329378T>C	ENST00000231498.3	-	16	1930	c.1727A>G	c.(1726-1728)tAt>tGt	p.Y576C	NUP155_ENST00000513532.1_Missense_Mutation_p.Y576C|NUP155_ENST00000381843.2_Missense_Mutation_p.Y517C	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	576					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCACCACCATACCTATTTTT	0.398													15	39					0	0	0	0	C	37329378	T	C	37329378	3	2	55	1	0	0	0	0	1	0	0	0	10827	1406	49	5	2528	5	NUP155	5	37329378	Missense_Mutation	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	352972	37329378	143585882	35	10323											
HSPA4	3308	broad.mit.edu	37	chr5	132440088	132440088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacagacacagctgtgccttCggattcagacaagaagcttc	12	9	9	11	1	1	3	1	0	0	3	3	4	1	4	1	1	4	2	1	1	3	4			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:132440088C>T	ENST00000304858.2	+	19	2772	c.2483C>T	c.(2482-2484)tCg>tTg	p.S828L		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	828					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	p.S828L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGTGCCTTCGGATTCAGAC	0.438													25	53					0	0	0	0	T	132440088	C	T	132440088	3	4	55	1	0	0	0	0	1	0	0	0	7464	893	31	1	2557	1	HSPA4	5	132440088	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	95110710	132440088	48475172	36	10324											
PCDHGC3	5098	broad.mit.edu	37	chr5	140855787	140855787	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcttccacggtcattcactAtgagatcccggaggaaagag	11	8	12	10	2	2	2	2	1	0	2	4	5	4	4	2	4	0	1	2	4	2	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:140855787A>T	ENST00000308177.3	+	1	208	c.104A>T	c.(103-105)tAt>tTt	p.Y35F	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCATTCACTATGAGATCCCG	0.587													39	81					0	0	0	0	T	140855787	A	T	140855787	3	4	55	1	0	0	0	0	1	0	0	0	11640	449	16	5	106	5	PCDHGC3	5	140855787	Missense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	8415699	140855787	40059473	37	10325											
RBM27	54439	broad.mit.edu	37	chr5	145664246	145664246	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatatcatggcacaagcccaAggtaccatctatatccactg	13	9	7	12	0	2	0	1	0	1	0	3	1	3	0	3	2	2	2	3	2	6	4			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:145664246A>T	ENST00000265271.5	+	20	3216	c.3050A>T	c.(3049-3051)aAg>aTg	p.K1017M	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1017					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACAAGCCCAAGGTACCATCT	0.378													33	68					0	0	0	0	T	145664246	A	T	145664246	3	4	55	1	0	0	0	0	1	0	0	0	13209	72	3	5	3128	5	RBM27	5	145664246	Missense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	4808459	145664246	35251014	38	10326											
ATP10B	23120	broad.mit.edu	37	chr5	160047449	160047449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgcctcacaaccacaGacattctcttcctgacagag	10	9	9	13	0	2	3	1	1	1	2	4	3	3	3	3	1	2	0	3	1	1	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:160047449G>T	ENST00000327245.5	-	15	3167	c.2321C>A	c.(2320-2322)tCt>tAt	p.S774Y	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	774					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACAACCACAGACATTCTCTT	0.602													6	23					3.59834e-05	3.64797e-05	1	0	T	160047449	G	T	160047449	3	4	55	1	0	0	0	0	1	0	0	0	1121	942	33	2	2112	2	ATP10B	5	160047449	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	14383203	160047449	20867811	39	10327											
HNRNPH1	3187	broad.mit.edu	37	chr5	179046282	179046286	+	Frame_Shift_Del	DEL	CTTTC	CTTTC	-																															atccccacctgtgccctattCtttccttgtgtttctttaga																										TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:179046282_179046286delCTTTC	ENST00000356731.5	-	4	2055_2059	c.520_524delGAAAG	c.(520-525)afs	p.ER174fs	HNRNPH1_ENST00000510411.1_Frame_Shift_Del_p.ER174fs|HNRNPH1_ENST00000442819.2_Frame_Shift_Del_p.ER174fs|HNRNPH1_ENST00000393432.4_Frame_Shift_Del_p.ER174fs|HNRNPH1_ENST00000329433.6_Frame_Shift_Del_p.ER174fs			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	174	RRM 2.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						GTGCCCTATTCTTTCCTTGTGTTTC	0.429													58	262	---	---	---	---					-	179046286	CTTTC	-	179046282	7	5	55	1	0	1	0	1	0	0	0	0	7316	913	32	0	861	0	HNRNPH1	5	179046282	Frame_Shift_Del	DEL	CTTTC	TCGA-BB-A6UO-01A-12D-A34J-08	18998833	179046282	1868978	40	10328											
HLA-C	3107	broad.mit.edu	37	chr6	31238165	31238165	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccatcccgctgccaggtCagtgtgatctccgcagggta	6	9	11	15	2	2	1	1	1	1	0	5	1	4	1	5	2	1	3	5	2	1	1			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr6:31238165C>A	ENST00000383329.3	-	4	731	c.717G>T	c.(715-717)ctG>ctT	p.L239L	HLA-C_ENST00000376228.5_Silent_p.L239L			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	239	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GCTGCCAGGTCAGTGTGATCT	0.637													7	23					1.56452e-12	1.70359e-12	1	0	A	31238165	C	A	31238165	2	1	55	1	0	0	0	0	0	0	0	1	7247	813	29	2		2	HLA-C	6	31238165	Silent	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08		31238165	139876902	41	10329											
GRM1	2911	broad.mit.edu	37	chr6	146678785	146678785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatgaacaagagtggagtGgtgcggtctgtgtgcagtga	10	9	17	5	1	1	4	0	2	1	2	1	5	1	5	0	3	3	1	0	3	2	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr6:146678785G>A	ENST00000392299.2	+	6	2027	c.1557G>A	c.(1555-1557)gtG>gtA	p.V519V	GRM1_ENST00000507907.1_Silent_p.V519V|GRM1_ENST00000282753.1_Silent_p.V519V|GRM1_ENST00000361719.2_Silent_p.V519V|GRM1_ENST00000355289.4_Silent_p.V519V|GRM1_ENST00000492807.2_Silent_p.V519V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	519					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGAGTGGAGTGGTGCGGTCTG	0.478													23	64					0	0	0	0	A	146678785	G	A	146678785	2	1	55	1	0	0	0	0	0	0	0	1	6846	1335	47	4		4	GRM1	6	146678785	Silent	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	115440620	146678785	24436282	42	10330											
KATNA1	11104	broad.mit.edu	37	chr6	149925823	149925824	+	Frame_Shift_Del	DEL	TA	TA	-																															acattgggattctgggaaatTatatctctttccaaagcttc																										TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr6:149925823_149925824delTA	ENST00000367411.2	-	5	854_855	c.596_597delTA	c.(595-597)afs	p.I200fs	KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Intron|KATNA1_ENST00000335647.5_Frame_Shift_Del_p.I200fs	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	200					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		TCTGGGAAATTATATCTCTTTC	0.371													36	104	---	---	---	---					-	149925824	TA	-	149925823	7	5	55	1	0	1	0	1	0	0	0	0	8037	1744	61	0	906	0	KATNA1	6	149925823	Frame_Shift_Del	DEL	TA	TCGA-BB-A6UO-01A-12D-A34J-08	3247038	149925823	21189244	43	10331											
NEUROD6	63974	broad.mit.edu	37	chr7	31378057	31378057	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatagtccaaggtttcttCttgcttcagggaaaatatcc	11	13	7	10	0	3	0	1	0	2	0	5	1	5	1	3	2	1	2	3	2	5	6			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:31378057C>A	ENST00000297142.3	-	2	1148	c.826G>T	c.(826-828)Gaa>Taa	p.E276*		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	276					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AAGGTTTCTTCTTGCTTCAGG	0.483													16	46					4.7546e-09	5.10166e-09	1	0	A	31378057	C	A	31378057	4	1	55	1	0	0	0	0	0	1	0	0	10421	922	32	2	191	2	NEUROD6	7	31378057	Nonsense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08		31378057	127760606	44	10332											
POU6F2	11281	broad.mit.edu	37	chr7	39500156	39500156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctccacagatcctcaaacGgcagcgggtgaggtggatgg	10	7	14	10	2	2	2	1	1	1	1	4	3	3	3	2	5	2	1	2	5	1	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:39500156G>A	ENST00000518318.2	+	9	1455	c.1413G>A	c.(1411-1413)acG>acA	p.T471T	POU6F2_ENST00000403058.1_Silent_p.T471T|POU6F2_ENST00000559001.1_Silent_p.T416T			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	471					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						ATCCTCAAACGGCAGCGGGTG	0.468													6	25					0	0	0	0	A	39500156	G	A	39500156	2	1	55	1	0	0	0	0	0	0	0	1	12356	1103	39	1		1	POU6F2	7	39500156	Silent	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	8122099	39500156	119638507	45	10333											
TYW1	55253	broad.mit.edu	37	chr7	66660159	66660159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatactgtttccacagggCgttacctactgcggagaaag	10	11	11	9	2	0	1	0	0	0	1	1	2	1	1	2	2	4	3	2	2	5	5	rs142524777	byFrequency	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:66660159C>T	ENST00000359626.5	+	15	1976	c.1812C>T	c.(1810-1812)ggC>ggT	p.G604G		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	604					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.G604G(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TTCCACAGGGCGTTACCTACT	0.493													23	67					0	0	0	0	T	66660159	C	T	66660159	2	4	55	1	0	0	0	0	0	0	0	1	16914	755	27	1		1	TYW1	7	66660159	Silent	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	27160003	66660159	92478504	46	10334											
DYNC1I1	1780	broad.mit.edu	37	chr7	95457426	95457426	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtcagactcagaactTgggtatatgtctgctctttt	8	15	9	9	0	4	2	2	0	2	2	4	2	4	2	0	1	3	3	0	1	3	5			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:95457426T>C	ENST00000324972.6	+	5	616	c.423T>C	c.(421-423)ctT>ctC	p.L141L	DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000447467.2_Silent_p.L124L|DYNC1I1_ENST00000437599.1_Intron|DYNC1I1_ENST00000457059.1_Silent_p.L124L|DYNC1I1_ENST00000537881.1_Intron	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	141					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACTCAGAACTTGGGTATATGT	0.438													64	141					0	0	0	0	C	95457426	T	C	95457426	2	2	55	1	0	0	0	0	0	0	0	1	4878	1799	63	5		5	DYNC1I1	7	95457426	Silent	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	28797267	95457426	63681237	47	10335											
KIAA1549	57670	broad.mit.edu	37	chr7	138603675	138603675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggtgcgaaaagctgaccGaaaggtgtggaaatgactgg	14	6	16	5	2	0	3	0	2	0	1	0	6	0	4	1	4	2	1	1	4	4	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:138603675G>A	ENST00000440172.1	-	2	745	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	KIAA1549_ENST00000422774.1_Missense_Mutation_p.R233W|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R183W	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	233						integral to membrane		p.R233W(1)|p.R183W(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAAGCTGACCGAAAGGTGTGG	0.493			O	BRAF	pilocytic astrocytoma								29	96					0	0	0	0	A	138603675	G	A	138603675	3	1	55	1	0	0	0	0	1	0	0	0	8295	1057	37	1	5231	1	KIAA1549	7	138603675	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	43146249	138603675	20534988	48	10336											
UBN2	254048	broad.mit.edu	37	chr7	138943235	138943235	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttgttttttaatctagtAtgatgaattagttcccgctt	8	22	6	5	1	1	2	0	2	1	0	2	2	2	2	1	0	0	4	1	0	5	10			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:138943235A>G	ENST00000288561.8	+	4	665	c.414_splice	c.e4-1	p.Y139_splice	UBN2_ENST00000473989.2_Splice_Site_p.Y222_splice	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	222										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTAATCTAGTATGATGAATTA	0.358													33	77					0	0	0	0	G	138943235	A	G	138943235	5	3	55	1	0	0	0	0	0	0	1	0	16989	463	16	5	679	5	UBN2	7	138943235	Splice_Site	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	339560	138943235	20195428	49	10337											
OPRK1	4986	broad.mit.edu	37	chr8	54142384	54142384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaggagcactcaatgacatCgacgtctggaggagggcaat	13	6	13	9	2	2	1	1	1	1	0	3	5	2	4	0	4	1	2	0	4	3	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:54142384C>T	ENST00000265572.3	-	4	913	c.616G>A	c.(616-618)Gat>Aat	p.D206N	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.D117N|OPRK1_ENST00000520287.1_Missense_Mutation_p.D206N	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	206					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TCAATGACATCGACGTCTGGA	0.423													9	45					0	0	0	0	T	54142384	C	T	54142384	3	4	55	1	0	0	0	0	1	0	0	0	10956	884	31	1	530	1	OPRK1	8	54142384	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08		54142384	92221638	50	10338											
RP1	6101	broad.mit.edu	37	chr8	55533698	55533698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagggtggtggtcaaccctCgctcctttaagtcctttgat	6	14	10	11	1	2	1	2	1	0	0	5	1	4	1	3	3	1	1	3	3	2	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:55533698C>T	ENST00000220676.1	+	2	320	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	58	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTCAACCCTCGCTCCTTTAA	0.567													33	133					0	0	0	0	T	55533698	C	T	55533698	3	4	55	1	0	0	0	0	1	0	0	0	13617	884	31	1	174	1	RP1	8	55533698	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	1391314	55533698	90830324	51	10339											
EYA1	2138	broad.mit.edu	37	chr8	72234072	72234072	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttgcccatatgcagccatAgtttgtgaggaaggggtagg	9	11	15	6	0	0	1	0	1	0	0	0	2	0	2	2	4	3	4	2	4	4	5			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:72234072A>C	ENST00000340726.3	-	6	954	c.315T>G	c.(313-315)acT>acG	p.T105T	EYA1_ENST00000388741.2_Silent_p.T71T|EYA1_ENST00000388742.4_Silent_p.T105T|EYA1_ENST00000303824.7_Silent_p.T104T|EYA1_ENST00000419131.1_Silent_p.T105T|EYA1_ENST00000388740.3_Silent_p.T72T|EYA1_ENST00000388743.2_Silent_p.T104T	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	105					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ATGCAGCCATAGTTTGTGAGG	0.463													37	109					0	0	0	0	C	72234072	A	C	72234072	2	2	55	1	0	0	0	0	0	0	0	1	5366	407	15	5		5	EYA1	8	72234072	Silent	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	16700374	72234072	74129950	52	10340											
VPS13B	157680	broad.mit.edu	37	chr8	100443876	100443876	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattgtttggaatgcagtgaAgcatctcacactacaggtaa	14	11	9	7	0	1	1	1	1	1	0	2	2	1	2	0	2	3	4	0	2	5	4			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:100443876A>T	ENST00000395996.1	+	22	3305	c.3194A>T	c.(3193-3195)aAg>aTg	p.K1065M	VPS13B_ENST00000358544.2_Missense_Mutation_p.K1065M|VPS13B_ENST00000357162.2_Missense_Mutation_p.K1065M			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1065					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATGCAGTGAAGCATCTCACA	0.303													15	64					0	0	0	0	T	100443876	A	T	100443876	3	4	55	1	0	0	0	0	1	0	0	0	17286	72	3	5	3399	5	VPS13B	8	100443876	Missense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	28209804	100443876	45920146	53	10341											
LRP12	29967	broad.mit.edu	37	chr8	105521276	105521276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattatgccacttggtgctcGtatttgctctggagtctctc	5	16	10	10	1	2	0	0	0	2	0	5	2	2	1	1	2	3	3	1	2	2	4			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:105521276G>C	ENST00000276654.5	-	3	271	c.163C>G	c.(163-165)Cga>Gga	p.R55G	LRP12_ENST00000424843.2_Missense_Mutation_p.R36G	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	55	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.R55G(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGGTGCTCGTATTTGCTCT	0.408													31	113					0	0	0	0	C	105521276	G	C	105521276	3	2	55	1	0	0	0	0	1	0	0	0	9018	1153	40	3	2436	3	LRP12	8	105521276	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	5077400	105521276	40842746	54	10342											
CSMD3	114788	broad.mit.edu	37	chr8	113246683	113246683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatatgcgtaacattaggcGagcttcctggcttttatata	11	15	8	7	2	0	0	0	0	0	0	1	1	1	0	1	2	3	3	1	2	7	9			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:113246683G>A	ENST00000297405.5	-	68	10895	c.10651C>T	c.(10651-10653)Cgc>Tgc	p.R3551C	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3511C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3481C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3382C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3551						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACATTAGGCGAGCTTCCTGG	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			80	97					0	0	0	0	A	113246683	G	A	113246683	3	1	55	1	0	0	0	0	1	0	0	0	3978	1058	37	1	488	1	CSMD3	8	113246683	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	7725407	113246683	33117339	55	10343											
CSMD3	114788	broad.mit.edu	37	chr8	113418852	113418852	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatatatcctggattacAatcaaaaagaaccgatgaac	19	8	7	7	1	1	3	1	1	0	2	2	6	2	4	2	1	3	0	2	1	9	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:113418852A>T	ENST00000297405.5	-	35	5954	c.5710T>A	c.(5710-5712)Tgt>Agt	p.C1904S	CSMD3_ENST00000343508.3_Missense_Mutation_p.C1864S|CSMD3_ENST00000352409.3_Missense_Mutation_p.C1834S|CSMD3_ENST00000455883.2_Missense_Mutation_p.C1800S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1904	Sushi 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTGGATTACAATCAAAAAGA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			85	88					0	0	0	0	T	113418852	A	T	113418852	3	4	55	1	0	0	0	0	1	0	0	0	3978	130	5	5	5561	5	CSMD3	8	113418852	Missense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	172169	113418852	32945170	56	10344											
EPPK1	83481	broad.mit.edu	37	chr8	144944616	144944616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccagagggcagcagccGcacaccgcccacagctccca	9	2	11	19	2	0	1	0	0	0	1	1	1	1	1	5	2	3	4	5	2	0	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:144944616G>A	ENST00000525985.1	-	2	2877	c.2806C>T	c.(2806-2808)Cgg>Tgg	p.R936W				P58107	EPIPL_HUMAN	epiplakin 1	936						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCAGCAGCCGCACACCGCCC	0.711													3	29					0	0	0	0	A	144944616	G	A	144944616	3	1	55	1	0	0	0	0	1	0	0	0	5228	1086	38	1	4460	1	EPPK1	8	144944616	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	31525764	144944616	1419406	57	10345											
IFNA16	3449	broad.mit.edu	37	chr9	21217217	21217217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcctattacccaggctgtGagtctgaggcagatcacagc	9	9	10	13	0	2	3	1	2	1	1	3	3	3	3	3	2	2	2	3	2	2	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:21217217G>A	ENST00000380216.1	-	1	93	c.88C>T	c.(88-90)Cac>Tac	p.H30Y		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	30					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCCAGGCTGTGAGTCTGAGGC	0.502													119	112					0	0	0	0	A	21217217	G	A	21217217	3	1	55	1	0	0	0	0	1	0	0	0	7588	1290	45	2	485	2	IFNA16	9	21217217	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08		21217217	119996214	58	10346											
TMEM215	401498	broad.mit.edu	37	chr9	32784684	32784684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggacggctactgcccctCgggcagttccctcacctaca	6	8	9	18	2	1	0	1	0	0	0	3	1	2	1	5	3	3	3	5	3	2	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:32784684C>T	ENST00000342743.5	+	2	868	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	168						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TACTGCCCCTCGGGCAGTTCC	0.587													25	31					0	0	0	0	T	32784684	C	T	32784684	3	4	55	1	0	0	0	0	1	0	0	0	16232	893	31	1	505	1	TMEM215	9	32784684	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	11567467	32784684	108428747	59	10347											
KIAA1161	57462	broad.mit.edu	37	chr9	34371652	34371652	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgaagtctagcaccgcGccgatgccgttccaccagcg	7	7	12	15	6	1	1	0	1	1	0	2	2	2	1	5	0	4	2	5	0	2	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:34371652G>A	ENST00000297625.7	-	2	1413	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	430					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CTAGCACCGCGCCGATGCCGT	0.677													10	7					0	0	0	0	A	34371652	G	A	34371652	2	1	55	1	0	0	0	0	0	0	0	1	8262	1074	38	1		1	KIAA1161	9	34371652	Silent	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	1586968	34371652	106841779	60	10348											
PRUNE2	158471	broad.mit.edu	37	chr9	79323756	79323756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccatcactggggattgccGcacccccactgcagtcatcc	8	7	9	17	1	2	0	2	0	0	0	3	2	3	1	5	2	2	2	5	2	0	1			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:79323756G>A	ENST00000428286.1	-	8	3557	c.2357C>T	c.(2356-2358)gCg>gTg	p.A786V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1145V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1145					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGGATTGCCGCACCCCCACT	0.522													4	129					0	0	0	0	A	79323756	G	A	79323756	3	1	55	1	0	0	0	0	1	0	0	0	12720	1087	38	1	5880	1	PRUNE2	9	79323756	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	44952104	79323756	61889675	61	10349											
KIF27	55582	broad.mit.edu	37	chr9	86506407	86506407	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaagttgttgttctattaTtttttcattctttgtagaag	10	21	7	3	0	3	2	1	0	2	2	3	2	3	2	0	0	0	4	0	0	6	11			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:86506407T>C	ENST00000297814.2	-	6	1755	c.1612A>G	c.(1612-1614)Ata>Gta	p.I538V	KIF27_ENST00000334204.2_Missense_Mutation_p.I538V|KIF27_ENST00000413982.1_Missense_Mutation_p.I538V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	538					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTTCTATTATTTTTTCATTC	0.303													17	29					0	0	0	0	C	86506407	T	C	86506407	3	2	55	1	0	0	0	0	1	0	0	0	8347	1493	52	5	2645	5	KIF27	9	86506407	Missense_Mutation	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	7182651	86506407	54707024	62	10350											
RC3H2	54542	broad.mit.edu	37	chr9	125642364	125642364	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgttgcaaaacaattgtcAattcctggacactctttgca	11	14	6	10	1	2	0	1	0	1	0	4	1	3	1	1	1	3	3	1	1	4	5			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:125642364A>G	ENST00000373670.1	-	6	1601	c.1001T>C	c.(1000-1002)tTg>tCg	p.L334S	RC3H2_ENST00000335387.5_Missense_Mutation_p.L334S|RC3H2_ENST00000423239.2_Missense_Mutation_p.L334S|RC3H2_ENST00000357244.2_Missense_Mutation_p.L334S|RC3H2_ENST00000373665.2_Missense_Mutation_p.L334S			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	334						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AACAATTGTCAATTCCTGGAC	0.388													58	84					0	0	0	0	G	125642364	A	G	125642364	3	3	55	1	0	0	0	0	1	0	0	0	13249	131	5	5	2712	5	RC3H2	9	125642364	Missense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	39135957	125642364	15571067	63	10351											
LCN8	138307	broad.mit.edu	37	chr9	139649881	139649881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactaaagtacttgaggacgCgaaagttcctgccccgccac	11	8	9	13	3	0	1	0	1	0	0	1	3	1	2	4	1	3	2	4	1	5	5	rs138766179		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:139649881C>T	ENST00000371688.3	-	4	609	c.314G>A	c.(313-315)cGc>cAc	p.R105H	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	128					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CTTGAGGACGCGAAAGTTCCT	0.657													8	15					0	0	0	0	T	139649881	C	T	139649881	3	4	55	1	0	0	0	0	1	0	0	0	8739	768	27	1	160	1	LCN8	9	139649881	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	14007517	139649881	1563550	64	10352											
LYZL2	119180	broad.mit.edu	37	chr10	30915144	30915144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccgtcatccaggaccGtctgggctgtggtgttgtag	4	12	15	10	2	2	0	1	0	1	0	3	1	3	1	3	3	2	4	3	3	1	2	rs146282381		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr10:30915144G>A	ENST00000375318.2	-	3	382	c.326C>T	c.(325-327)aCg>aTg	p.T109M		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	63					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ATCCAGGACCGTCTGGGCTGT	0.572													21	57					0	0	0	0	A	30915144	G	A	30915144	3	1	55	1	0	0	0	0	1	0	0	0	9197	1145	40	1	270	1	LYZL2	10	30915144	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08		30915144	104619603	65	10353											
NCOA4	8031	broad.mit.edu	37	chr10	51580580	51580580	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcagattcacagttgcAtaagccgtcacctggaatgt	12	10	9	10	1	3	1	3	0	0	1	3	2	3	2	2	1	3	3	2	1	3	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr10:51580580A>G	ENST00000452682.1	+	4	466	c.214A>G	c.(214-216)Ata>Gta	p.I72V	NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000438493.1_Missense_Mutation_p.I72V|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_5'UTR|NCOA4_ENST00000374087.4_Missense_Mutation_p.I56V|NCOA4_ENST00000443446.1_Missense_Mutation_p.I56V|NCOA4_ENST00000344348.6_Missense_Mutation_p.I56V|NCOA4_ENST00000374082.1_Missense_Mutation_p.I56V	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	56					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCACAGTTGCATAAGCCGTCA	0.423			T	RET	papillary thyroid								39	84					0	0	0	0	G	51580580	A	G	51580580	3	3	55	1	0	0	0	0	1	0	0	0	10301	217	8	5	224	5	NCOA4	10	51580580	Missense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	20665436	51580580	83954167	66	10354											
XPNPEP1	7511	broad.mit.edu	37	chr10	111643888	111643888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gattgtgctccacatctgatCctcggagattaaatagccct	10	12	8	11	1	1	2	0	1	1	1	4	4	3	2	3	1	2	1	3	1	3	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr10:111643888C>T	ENST00000502935.1	-	9	886	c.767G>A	c.(766-768)gGa>gAa	p.G256E	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.G142E|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.G256E|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.G213E			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	213					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CACATCTGATCCTCGGAGATT	0.463											OREG0020527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	91					0	0	0	0	T	111643888	C	T	111643888	3	4	55	1	0	0	0	0	1	0	0	0	17538	855	30	2	1285	2	XPNPEP1	10	111643888	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	60063308	111643888	23890859	67	10355											
GPAM	57678	broad.mit.edu	37	chr10	113921438	113921438	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatacctgcctgtgtctgTagaggagcaggcaagccaca	11	7	12	11	0	1	1	0	0	1	1	1	3	1	2	3	2	4	3	3	2	3	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr10:113921438T>C	ENST00000348367.4	-	15	1678	c.1481A>G	c.(1480-1482)tAc>tGc	p.Y494C	GPAM_ENST00000369425.1_Missense_Mutation_p.Y494C|GPAM_ENST00000423155.1_Missense_Mutation_p.Y494C			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	494					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CCTGTGTCTGTAGAGGAGCAG	0.463													14	32					0	0	0	0	C	113921438	T	C	113921438	3	2	55	1	0	0	0	0	1	0	0	0	6637	1638	57	5	1037	5	GPAM	10	113921438	Missense_Mutation	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	2277550	113921438	21613309	68	10356											
NLRP6	171389	broad.mit.edu	37	chr11	281034	281034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagctcggctccggtagccGacgggccccggttgcagggc	4	6	17	14	5	0	1	0	1	0	0	2	2	1	1	4	5	3	5	4	5	1	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:281034G>A	ENST00000534750.1	+	4	1505	c.1300G>A	c.(1300-1302)Gac>Aac	p.D434N	NLRP6_ENST00000312165.5_Missense_Mutation_p.D434N	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	434	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCGGTAGCCGACGGGCCCCG	0.672													15	128					0	0	0	0	A	281034	G	A	281034	3	1	55	1	0	0	0	0	1	0	0	0	10551	1058	37	1	1314	1	NLRP6	11	281034	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08		281034	134725482	69	10357											
MUC6	4588	broad.mit.edu	37	chr11	1031902	1031902	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcgagatgctcccgtctggGcctcgccgcagctggacact	5	7	13	16	5	1	1	0	0	1	1	3	3	2	2	3	2	2	3	3	2	0	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:1031902G>C	ENST00000421673.2	-	3	317	c.267C>G	c.(265-267)ggC>ggG	p.G89G		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	89	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)		TCCCGTCTGGGCCTCGCCGCA	0.622													4	47					0	0	0	0	C	1031902	G	C	1031902	2	2	55	1	0	0	0	0	0	0	0	1	10050	1190	42	4		4	MUC6	11	1031902	Silent	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	750868	1031902	133974614	70	10358											
MUC5B	727897	broad.mit.edu	37	chr11	1271400	1271400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaccacaacagccactacGactgcgtccactggatccac	11	6	7	17	2	0	1	0	1	0	0	2	3	2	2	4	1	4	0	4	1	2	1			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:1271400G>A	ENST00000447027.1	+	31	13357	c.13299G>A	c.(13297-13299)acG>acA	p.T4433T	MUC5B_ENST00000529681.1_Silent_p.T4430T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4430	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCACTACGACTGCGTCCA	0.667													127	159					0	0	0	0	A	1271400	G	A	1271400	2	1	55	1	0	0	0	0	0	0	0	1	10049	1045	37	1		1	MUC5B	11	1271400	Silent	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	239498	1271400	133735116	71	10359											
DUSP8	1850	broad.mit.edu	37	chr11	1585103	1585103	+	Frame_Shift_Del	DEL	G	G	-																															gtgaggatggccacgctgtcGaagcagccgtccagcttgct																										TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:1585103delG	ENST00000397374.3	-	3	475	c.348delC	c.(346-348)ttfs	p.F116fs	DUSP8_ENST00000331588.4_Frame_Shift_Del_p.F116fs	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	116	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCACGCTGTCGAAGCAGCCGT	0.672													2	4	---	---	---	---					-	1585103	G	-	1585103	7	5	55	1	0	1	0	1	0	0	0	0	4867	1049	37	0	1549	0	DUSP8	11	1585103	Frame_Shift_Del	DEL	G	TCGA-BB-A6UO-01A-12D-A34J-08	313703	1585103	133421413	72	10360											
OR51G1	79324	broad.mit.edu	37	chr11	4944789	4944789	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaagcgatgcacaagagAcaagccaatcatggggatgt	16	5	11	9	1	1	1	1	0	0	1	1	4	1	2	2	2	3	1	2	2	4	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:4944789A>G	ENST00000321961.2	-	1	848	c.781T>C	c.(781-783)Tct>Cct	p.S261P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCACAAGAGACAAGCCAATC	0.522													6	57					0	0	0	0	G	4944789	A	G	4944789	3	3	55	1	0	0	0	0	1	0	0	0	11169	275	10	5	186	5	OR51G1	11	4944789	Missense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	3359686	4944789	130061727	73	10361											
BTBD10	84280	broad.mit.edu	37	chr11	13466583	13466583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacctaccttgaatgtttaTaaagtttacgaggtctacta	12	15	6	8	1	1	1	0	1	1	0	1	2	1	1	2	1	4	2	2	1	9	10			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:13466583T>C	ENST00000278174.5	-	2	334	c.89A>G	c.(88-90)tAt>tGt	p.Y30C	BTBD10_ENST00000528120.1_Intron	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	30						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGAATGTTTATAAAGTTTACG	0.408													31	42					0	0	0	0	C	13466583	T	C	13466583	3	2	55	1	0	0	0	0	1	0	0	0	1546	1406	49	5	1370	5	BTBD10	11	13466583	Missense_Mutation	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	8521794	13466583	121539933	74	10362											
GLYATL2	219970	broad.mit.edu	37	chr11	58602255	58602255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcccaaaggcccagtgttCattcacaagacctgcatgtg	10	11	8	12	0	2	1	2	0	0	1	3	1	3	1	3	1	1	2	3	1	2	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:58602255C>T	ENST00000287275.1	-	6	922	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	GLYATL2_ENST00000532258.1_Missense_Mutation_p.E178K|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	178						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCCCAGTGTTCATTCACAAGA	0.413													16	15					0	0	0	0	T	58602255	C	T	58602255	3	4	55	1	0	0	0	0	1	0	0	0	6532	835	29	2	356	2	GLYATL2	11	58602255	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	45135672	58602255	76404261	75	10363											
C11orf63	79864	broad.mit.edu	37	chr11	122830103	122830103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatactgcagaacagacacGaaagggaaaaacaggctgtg	19	4	11	7	1	0	2	0	0	0	2	0	4	0	3	0	2	4	2	0	2	6	1	rs146523567		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:122830103G>A	ENST00000227349.2	+	9	2584	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	C11orf63_ENST00000531316.1_Missense_Mutation_p.E763K	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	763										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAACAGACACGAAAGGGAAAA	0.418													3	43					0	0	0	0	A	122830103	G	A	122830103	3	1	55	1	0	0	0	0	1	0	0	0	1665	1059	37	1	2381	1	C11orf63	11	122830103	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	64227848	122830103	12176413	76	10364											
PKNOX2	63876	broad.mit.edu	37	chr11	125237806	125237806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctctgccccctcagctgCtgccagcacacctgtgccca	6	8	7	20	0	2	0	1	0	1	0	3	0	2	0	5	0	6	3	5	0	0	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:125237806C>A	ENST00000298282.9	+	5	423	c.152C>A	c.(151-153)gCt>gAt	p.A51D	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Intron	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	51						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCCTCAGCTGCTGCCAGCACA	0.622													18	22					2.94398e-08	3.11342e-08	1	0	A	125237806	C	A	125237806	3	1	55	1	0	0	0	0	1	0	0	0	12055	797	28	4	158	4	PKNOX2	11	125237806	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	2407703	125237806	9768710	77	10365											
C12orf36	283422	broad.mit.edu	37	chr12	13529204	13529204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtcagagaacaactgatCtgggtcagcccttcgtttca	10	10	10	11	1	4	2	3	1	1	1	5	3	4	2	1	2	3	1	1	2	2	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr12:13529204C>T	ENST00000318426.2	-	2	353	c.136G>A	c.(136-138)Gat>Aat	p.D46N	C12orf36_ENST00000539026.1_Missense_Mutation_p.D46N|C12orf36_ENST00000532841.1_Missense_Mutation_p.D46N|C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000527705.2_Missense_Mutation_p.D46N					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		AACAACTGatctgggtcagcc	0.522													19	40					0	0	0	0	T	13529204	C	T	13529204	3	4	55	1	0	0	0	0	1	0	0	0	1695	913	32	2	288	2	C12orf36	12	13529204	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08		13529204	120322691	78	10366											
DNAJC14	85406	broad.mit.edu	37	chr12	56222200	56222201	+	Frame_Shift_Ins	INS	-	-	G																															ctgcatctctaggtggtcctINSggaccccctggggggccatg																										TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr12:56222200_56222201insG	ENST00000357606.3	-	3	531_532	c.242_243insC	c.(241-243)cggfs	p.R81fs	DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.R81fs|DNAJC14_ENST00000317287.5_Frame_Shift_Ins_p.R81fs			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	81					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TAGGTGGTCCTGGACCCCCTGG	0.559													76	188	---	---	---	---					G	56222201	-	G	56222200	7	5	55	1	0	1	1	0	0	0	0	0	4669	1567	55	0	1889	0	DNAJC14	12	56222200	Frame_Shift_Ins	INS	-	TCGA-BB-A6UO-01A-12D-A34J-08	42692996	56222200	77629695	79	10367											
TBC1D15	64786	broad.mit.edu	37	chr12	72312230	72312230	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttttttcttctgcataGaatctcaggactctggatac	8	17	8	8	0	4	1	1	0	4	1	5	3	4	3	0	2	2	2	0	2	3	6			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr12:72312230G>T	ENST00000550746.1	+	15	1616		c.e15-1		TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000548679.1_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15								protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTCTGCATAGAATCTCAGGA	0.333													27	75					6.32553e-13	6.9392e-13	1	0	T	72312230	G	T	72312230	5	4	55	1	0	0	0	0	0	0	1	0	15695	956	33	2	1734	2	TBC1D15	12	72312230	Splice_Site	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	16090030	72312230	61539665	80	10368											
TNFRSF19	55504	broad.mit.edu	37	chr13	24233325	24233325	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgtgtcatctattgtaaGagacagtttatggagaagaa	13	13	10	5	0	3	3	1	0	2	3	3	5	3	3	0	1	0	2	0	1	5	5			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr13:24233325G>C	ENST00000382263.3	+	6	766	c.582G>C	c.(580-582)aaG>aaC	p.K194N	TNFRSF19_ENST00000403372.2_Missense_Mutation_p.K62N|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.K194N|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.K194N	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	194					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TCTATTGTAAGAGACAGTTTA	0.512													27	55					0	0	0	0	C	24233325	G	C	24233325	3	2	55	1	0	0	0	0	1	0	0	0	16386	933	33	2	600	2	TNFRSF19	13	24233325	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08		24233325	90936553	81	10369											
NUPL1	9818	broad.mit.edu	37	chr13	25881995	25881995	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaagtacttcaactccAgcaactacatctgctccttc	10	12	5	14	0	2	0	1	0	1	0	5	1	4	1	2	1	6	3	2	1	5	5			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr13:25881995A>C	ENST00000463407.1	+	2	302	c.159A>C	c.(157-159)ccA>ccC	p.P53P	NUPL1_ENST00000381718.3_Silent_p.P53P|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381736.3_Silent_p.P53P			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	53	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CTTCAACTCCAGCAACTACAT	0.428													31	100					0	0	0	0	C	25881995	A	C	25881995	2	2	55	1	0	0	0	0	0	0	0	1	10845	175	7	5		5	NUPL1	13	25881995	Silent	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	1648670	25881995	89287883	82	10370											
EDNRB	1910	broad.mit.edu	37	chr13	78492249	78492249	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagacattgatagggatgtCaatgacgatgtgcagcaggt	12	10	14	5	1	1	3	1	2	0	1	1	5	1	4	0	2	2	3	0	2	3	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr13:78492249C>A	ENST00000377211.4	-	2	882	c.730G>T	c.(730-732)Gac>Tac	p.D244Y	EDNRB_ENST00000446573.1_Missense_Mutation_p.D154Y|EDNRB_ENST00000334286.5_Missense_Mutation_p.D154Y	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	154			T -> M (in dbSNP:rs5350).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATAGGGATGTCAATGACGATG	0.507													34	75					1.57351e-24	1.7657e-24	1	0	A	78492249	C	A	78492249	3	1	55	1	0	0	0	0	1	0	0	0	4956	826	29	2	1017	2	EDNRB	13	78492249	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	52610254	78492249	36677629	83	10371											
COCH	1690	broad.mit.edu	37	chr14	31355514	31355514	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagctgctgcacatgaTgcaggtaaggtccttgttct	7	12	11	11	0	1	1	0	1	1	0	2	1	2	1	2	2	5	7	2	2	1	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr14:31355514T>C	ENST00000460581.2	+	9	1683	c.1137T>C	c.(1135-1137)gaT>gaC	p.D379D	COCH_ENST00000216361.4_Silent_p.D491D|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Silent_p.D491D|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000396618.3_Silent_p.D491D|COCH_ENST00000382493.4_Silent_p.D342D			O43405	COCH_HUMAN	cochlin	491	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CTGCACATGATGCAGGTAAGG	0.408													39	51					0	0	0	0	C	31355514	T	C	31355514	2	2	55	1	0	0	0	0	0	0	0	1	3686	1461	51	5		5	COCH	14	31355514	Silent	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08		31355514	75994026	84	10372											
YLPM1	56252	broad.mit.edu	37	chr14	75283661	75283661	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatgaatatgaagctgagAtggaggagacttaccgcacc	15	8	11	7	1	0	4	0	3	0	2	0	7	0	5	2	2	2	2	2	2	6	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr14:75283661A>G	ENST00000325680.7	+	14	5837	c.5713A>G	c.(5713-5715)Atg>Gtg	p.M1905V	YLPM1_ENST00000552421.1_Missense_Mutation_p.M1199V|YLPM1_ENST00000238571.3_Missense_Mutation_p.M1670V	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1710	Involved in interaction with PPP1CA (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGAAGCTGAGATGGAGGAGAC	0.398													9	36					0	0	0	0	G	75283661	A	G	75283661	3	3	55	1	0	0	0	0	1	0	0	0	17582	333	12	5	5767	5	YLPM1	14	75283661	Missense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	43928147	75283661	32065879	85	10373											
EIF2AK4	440275	broad.mit.edu	37	chr15	40231714	40231714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcttttaggtcaaagaGccccctgaaatcaatttagt	11	14	6	10	0	3	2	2	1	1	1	4	2	4	2	3	1	1	0	3	1	5	5			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr15:40231714G>T	ENST00000263791.5	+	2	196	c.153G>T	c.(151-153)gaG>gaT	p.E51D	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.E51D|EIF2AK4_ENST00000560648.1_Missense_Mutation_p.E51D|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E51D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	51	RWD.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGGTCAAAGAGCCCCCTGAAA	0.338													22	52					8.04996e-18	8.96473e-18	1	0	T	40231714	G	T	40231714	3	4	55	1	0	0	0	0	1	0	0	0	5035	962	34	4	159	4	EIF2AK4	15	40231714	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08		40231714	62299678	86	10374											
NEDD4	4734	broad.mit.edu	37	chr15	56140620	56140620	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatcttcccattgtgttcTttttatatctgaagggaaga	10	16	9	6	0	3	2	0	1	3	1	4	4	4	4	1	2	0	1	1	2	4	7			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr15:56140620T>G	ENST00000508342.1	-	13	3048	c.2749A>C	c.(2749-2751)Aga>Cga	p.R917R	NEDD4_ENST00000506154.1_Silent_p.R901R|NEDD4_ENST00000338963.2_Silent_p.R845R|NEDD4_ENST00000435532.3_Silent_p.R498R			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	917	Mediates interaction with TNIK (By similarity).|WW 4.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CATTGTGTTCTTTTTATATCT	0.383													10	131					0	0	0	0	G	56140620	T	G	56140620	2	3	55	1	0	0	0	0	0	0	0	1	10380	1617	56	5		5	NEDD4	15	56140620	Silent	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	15908906	56140620	46390772	87	10375											
RNF111	54778	broad.mit.edu	37	chr15	59359272	59359272	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtagttctggtaccagctAtcatgaacaggtatgtggaa	12	12	11	6	0	2	1	1	1	1	0	2	2	2	2	1	3	3	5	1	3	7	6			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr15:59359272A>G	ENST00000348370.4	+	6	2109	c.1676A>G	c.(1675-1677)tAt>tGt	p.Y559C	RNF111_ENST00000561186.1_Missense_Mutation_p.Y559C|RNF111_ENST00000434298.1_Missense_Mutation_p.Y559C|RNF111_ENST00000557998.1_Missense_Mutation_p.Y559C|RNF111_ENST00000559209.1_Missense_Mutation_p.Y559C	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	559					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GGTACCAGCTATCATGAACAG	0.473													19	64					0	0	0	0	G	59359272	A	G	59359272	3	3	55	1	0	0	0	0	1	0	0	0	13510	449	16	5	1694	5	RNF111	15	59359272	Missense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	3218652	59359272	43172120	88	10376											
UACA	55075	broad.mit.edu	37	chr15	70959587	70959587	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtttggtcactgtctgctGctctttctcgtaacaccttt	5	17	7	12	1	4	0	1	0	3	0	5	0	4	0	1	1	3	4	1	1	1	4			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr15:70959587G>A	ENST00000322954.6	-	16	3621	c.3436C>T	c.(3436-3438)Cag>Tag	p.Q1146*	UACA_ENST00000560441.1_Nonsense_Mutation_p.Q1131*|UACA_ENST00000539319.1_Nonsense_Mutation_p.Q1037*|UACA_ENST00000379983.2_Nonsense_Mutation_p.Q1133*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1146						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACTGTCTGCTGCTCTTTCTCG	0.398													9	228					0	0	0	0	A	70959587	G	A	70959587	4	1	55	1	0	0	0	0	0	1	0	0	16920	1328	46	4	830	4	UACA	15	70959587	Nonsense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	11600315	70959587	31571805	89	10377											
RAB11FIP3	9727	broad.mit.edu	37	chr16	538871	538871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacccccatggccagtCtgtcatcacggtgatcgggg	6	8	12	15	2	4	1	3	1	1	0	5	1	4	1	4	4	0	0	4	4	0	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:538871C>A	ENST00000262305.4	+	5	1524	c.1136C>A	c.(1135-1137)tCt>tAt	p.S379Y	RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.S83Y|RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.S379Y	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	379					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CATGGCCAGTCTGTCATCACG	0.597													9	42					1.33987e-11	1.44824e-11	1	0	A	538871	C	A	538871	3	1	55	1	0	0	0	0	1	0	0	0	12977	913	32	2	1173	2	RAB11FIP3	16	538871	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08		538871	89815882	90	10378											
ACSM2A	123876	broad.mit.edu	37	chr16	20497947	20497947	+	Missense_Mutation	SNP	G	G	A																															tcacagggaaaattcaacgaGccaagcttcgagacaaggag																								rs1054977		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:20497947G>A	ENST00000573854.1	+	14	1795	c.1681G>A	c.(1681-1683)Gcc>Acc	p.A561T	ACSM2A_ENST00000536134.1_Missense_Mutation_p.A333T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A561T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A561T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A482T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A561T	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	561			A -> T (in dbSNP:rs1054977).		fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AATTCAACGAGCCAAGCTTCG	0.473													34	195					0	0	0	0	A	20497947	G	A	20497947	3	1	55	1	0	0	0	0	1	0	0	0	183	971	34	4	1731	4	ACSM2A	16	20497947	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	19959076	20497947	69856806	91	10379	93	2									
ACSM2A	123876	broad.mit.edu	37	chr16	20497952	20497952	+	Silent	SNP	G	G	A																															gggaaaattcaacgagccaaGcttcgagacaaggagtggaa																								rs1054980		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:20497952G>A	ENST00000573854.1	+	14	1800	c.1686G>A	c.(1684-1686)aaG>aaA	p.K562K	ACSM2A_ENST00000536134.1_Silent_p.K334K|ACSM2A_ENST00000575690.1_Silent_p.K562K|ACSM2A_ENST00000219054.6_Silent_p.K562K|ACSM2A_ENST00000417235.2_Silent_p.K483K|ACSM2A_ENST00000396104.2_Silent_p.K562K	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	562					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AACGAGCCAAGCTTCGAGACA	0.468													35	196					0	0	0	0	A	20497952	G	A	20497952	2	1	55	1	0	0	0	0	0	0	0	1	183	962	34	4		4	ACSM2A	16	20497952	Silent	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	5	20497952	69856801	92	10380	93	2									
SCNN1B	6338	broad.mit.edu	37	chr16	23364163	23364163	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaggacctggatgagcTgatggaagctgtcctggaga	10	8	16	7	0	0	4	0	3	0	1	1	8	1	7	2	4	2	3	2	4	2	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:23364163T>C	ENST00000343070.2	+	3	529	c.353T>C	c.(352-354)cTg>cCg	p.L118P	SCNN1B_ENST00000568085.1_Missense_Mutation_p.L118P|SCNN1B_ENST00000307331.5_Missense_Mutation_p.L163P|SCNN1B_ENST00000568923.1_Missense_Mutation_p.L118P|SCNN1B_ENST00000569789.1_3'UTR	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	118					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTGGATGAGCTGATGGAAGCT	0.517													26	57					0	0	0	0	C	23364163	T	C	23364163	3	2	55	1	0	0	0	0	1	0	0	0	14015	1580	55	5	359	5	SCNN1B	16	23364163	Missense_Mutation	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	2866211	23364163	66990590	93	10381											
ZNF646	9726	broad.mit.edu	37	chr16	31091550	31091550	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agatcggcccttccgctgtgGgcagtgcgggcggacctatc	5	8	15	13	4	0	1	0	0	0	1	3	2	1	2	3	4	1	2	3	4	1	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:31091550G>C	ENST00000394979.2	+	1	4328	c.3905G>C	c.(3904-3906)gGg>gCg	p.G1302A	ZNF646_ENST00000300850.5_Missense_Mutation_p.G1302A			O15015	ZN646_HUMAN	zinc finger protein 646	1302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TTCCGCTGTGGGCAGTGCGGG	0.701													16	21					0	0	0	0	C	31091550	G	C	31091550	3	2	55	1	0	0	0	0	1	0	0	0	18157	1232	43	4	3907	4	ZNF646	16	31091550	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	7727387	31091550	59263203	94	10382											
ELMO3	79767	broad.mit.edu	37	chr16	67237408	67237408	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttccccaggacctctaTgagttggccttctcaatcag	7	13	8	13	0	3	1	2	1	2	0	5	2	4	2	4	2	1	2	4	2	2	5			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:67237408T>C	ENST00000393997.2	+	19	2088	c.2031T>C	c.(2029-2031)taT>taC	p.Y677Y	ELMO3_ENST00000477898.1_Silent_p.Y511Y|ELMO3_ENST00000360833.1_Silent_p.Y660Y	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	624					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGGACCTCTATGAGTTGGCCT	0.637													13	35					0	0	0	0	C	67237408	T	C	67237408	2	2	55	1	0	0	0	0	0	0	0	1	5105	1471	51	5		5	ELMO3	16	67237408	Silent	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	36145858	67237408	23117345	95	10383											
PLEKHG4	25894	broad.mit.edu	37	chr16	67318814	67318814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccgctgggcctgggcgCggtgccaggacacctggctg	4	6	18	13	3	0	0	0	0	0	0	0	1	0	1	4	5	2	2	4	5	0	0	rs138070673	byFrequency	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:67318814C>T	ENST00000360461.5	+	12	4426	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R631W|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R631W|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R550W	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	631					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R631W(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGCCTGGGCGCGGTGCCAGGA	0.667													8	22					0	0	0	0	T	67318814	C	T	67318814	3	4	55	1	0	0	0	0	1	0	0	0	12143	759	27	1	1937	1	PLEKHG4	16	67318814	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	81406	67318814	23035939	96	10384											
ZFHX3	463	broad.mit.edu	37	chr16	72984482	72984482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaggtgcacggggttgccGatggccacacacttgagcct	7	9	14	11	2	0	2	0	2	0	0	0	3	0	2	3	4	3	2	3	4	0	3	rs150708280	by1000genomes	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:72984482G>A	ENST00000268489.5	-	3	3774	c.3102C>T	c.(3100-3102)atC>atT	p.I1034I	ZFHX3_ENST00000397992.5_Silent_p.I120I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1034					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGGGTTGCCGATGGCCACAC	0.612													20	49					0	0	0	0	A	72984482	G	A	72984482	2	1	55	1	0	0	0	0	0	0	0	1	17729	1048	37	1		1	ZFHX3	16	72984482	Silent	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	5665668	72984482	17370271	97	10385											
TP53	7157	broad.mit.edu	37	chr17	7577017	7577017	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttcttgtcctgcttgcttAcctcgcttagtgctccctgg	2	16	9	14	1	1	0	0	0	1	0	4	0	3	0	3	1	4	5	3	1	2	5			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:7577017A>C	ENST00000420246.2	-	8	1052		c.e8+1		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(6)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGCTTGCTTACCTCGCTTAG	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			44	26					0	0	0	0	C	7577017	A	C	7577017	5	2	55	1	0	0	0	0	0	0	1	0	16476	405	14	5	365	5	TP53	17	7577017	Splice_Site	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08		7577017	73618193	98	10386											
MYH2	4620	broad.mit.edu	37	chr17	10436835	10436835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaaaattaccttggtgtgCccaaatttatactgggtgtg	11	13	10	7	0	0	1	0	0	0	1	0	1	0	1	2	2	3	0	2	2	6	5	rs79757188	byFrequency	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:10436835C>T	ENST00000245503.5	-	20	2679	c.2295G>A	c.(2293-2295)ggG>ggA	p.G765G	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.G765G|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	765	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTTGGTGTGCCCAAATTTAT	0.423													97	77					0	0	0	0	T	10436835	C	T	10436835	2	4	55	1	0	0	0	0	0	0	0	1	10105	726	26	4		4	MYH2	17	10436835	Silent	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	2859818	10436835	70758375	99	10387											
CDK5R1	8851	broad.mit.edu	37	chr17	30814693	30814693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaaggccacgctgtttgagGatggcgcggccaccgtgggc	6	6	18	11	4	0	1	0	1	0	0	0	3	0	3	3	6	0	2	3	6	1	1			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:30814693G>A	ENST00000313401.3	+	2	744	c.55G>A	c.(55-57)Gat>Aat	p.D19N		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	19					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			GCTGTTTGAGGATGGCGCGGC	0.672													11	37					0	0	0	0	A	30814693	G	A	30814693	3	1	55	1	0	0	0	0	1	0	0	0	3172	1174	41	2	57	2	CDK5R1	17	30814693	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	20377858	30814693	50380517	100	10388											
MLLT6	4302	broad.mit.edu	37	chr17	36864101	36864101	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcccatcgtgctgcagtaCgtgcctcatgatcgcttcaa	8	10	10	13	3	2	1	2	1	0	0	4	2	2	1	2	0	5	4	2	0	2	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:36864101C>T	ENST00000325718.7	+	4	421	c.330C>T	c.(328-330)taC>taT	p.Y110Y	MLLT6_ENST00000378137.5_Silent_p.Y110Y	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	110					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TGCTGCAGTACGTGCCTCATG	0.617			T	MLL	AL								14	38					0	0	0	0	T	36864101	C	T	36864101	2	4	55	1	0	0	0	0	0	0	0	1	9699	547	19	1		1	MLLT6	17	36864101	Silent	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	6049408	36864101	44331109	101	10389											
COX11	1353	broad.mit.edu	37	chr17	53042103	53042104	+	Frame_Shift_Ins	INS	-	-	TG																															agttccactggagacttgcaINStgcacatctgcattaaagct																										TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:53042103_53042104insTG	ENST00000299335.3	-	2	614_615	c.476_477insCA	c.(475-477)cgcfs	p.R159fs	COX11_ENST00000571584.1_Frame_Shift_Ins_p.R159fs	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	159					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						GGAGACTTGCATGCACATCTGC	0.361													35	105	---	---	---	---					TG	53042104	-	TG	53042103	7	5	55	1	0	1	1	0	0	0	0	0	3793	214	8	0	431	0	COX11	17	53042103	Frame_Shift_Ins	INS	-	TCGA-BB-A6UO-01A-12D-A34J-08	16178002	53042103	28153107	102	10390											
USP36	57602	broad.mit.edu	37	chr17	76808947	76808947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctcacaaatacctttcCagtcagtggggaggaaataa	14	10	8	9	0	2	0	2	0	1	0	4	2	3	2	2	3	1	0	2	3	4	4			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:76808947C>T	ENST00000312010.6	-	13	1726	c.1402G>A	c.(1402-1404)Gga>Aga	p.G468R	USP36_ENST00000588467.1_5'UTR|USP36_ENST00000542802.2_Missense_Mutation_p.G468R|USP36_ENST00000449938.2_Missense_Mutation_p.G168R	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	468					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AATACCTTTCCAGTCAGTGGG	0.537													16	30					0	0	0	0	T	76808947	C	T	76808947	3	4	55	1	0	0	0	0	1	0	0	0	17163	603	21	4	2001	4	USP36	17	76808947	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	23766844	76808947	4386263	103	10391											
SMAD4	4089	broad.mit.edu	37	chr18	48584569	48584569	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagggcctcagccaggaCagcagcagaatggatttact	12	7	11	11	0	2	1	2	0	0	1	2	3	2	3	2	3	4	2	2	3	2	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr18:48584569C>T	ENST00000342988.3	+	6	1280	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q248*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	248					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.Q248*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGCCAGGACAGCAGCAGAA	0.438													18	29					0	0	0	0	T	48584569	C	T	48584569	4	4	55	1	0	0	0	0	0	1	0	0	14848	479	17	4	760	4	SMAD4	18	48584569	Nonsense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08		48584569	29492679	104	10392											
ADAT3	113179	broad.mit.edu	37	chr19	1912891	1912891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtccgcgcaggcgccgtgcGtaaactggacgcagacgagg	8	4	16	13	8	0	1	0	0	0	1	1	3	1	2	2	3	2	3	2	3	2	1			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:1912891G>A	ENST00000329478.2	+	2	1065	c.845G>A	c.(844-846)cGt>cAt	p.R282H	SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron|ADAT3_ENST00000602400.1_Missense_Mutation_p.R266H|SCAMP4_ENST00000409472.1_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	266					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|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)		GGCGCCGTGCGTAAACTGGAC	0.731													17	24					0	0	0	0	A	1912891	G	A	1912891	3	1	55	1	0	0	0	0	1	0	0	0	286	1145	40	1	799	1	ADAT3	19	1912891	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08		1912891	57216092	105	10393											
MAP2K2	5605	broad.mit.edu	37	chr19	4101229	4101229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcgggctgggccttacctCggtgcatgatctggtgcttc	3	11	16	11	2	1	1	0	1	1	0	3	1	1	1	2	5	3	3	2	5	1	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:4101229C>T	ENST00000262948.5	-	5	831	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Missense_Mutation_p.R96Q	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	193	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTTACCTCGGTGCATGAT	0.697													3	15					0	0	0	0	T	4101229	C	T	4101229	3	4	55	1	0	0	0	0	1	0	0	0	9306	884	31	1	652	1	MAP2K2	19	4101229	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	2188338	4101229	55027754	106	10394											
XAB2	56949	broad.mit.edu	37	chr19	7690779	7690779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgcaccttctcgaaatggCcgctgcggatgtagtagtcg	8	10	12	11	4	1	0	0	0	1	0	3	2	1	1	2	2	2	4	2	2	3	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:7690779C>T	ENST00000358368.4	-	6	846	c.809G>A	c.(808-810)gGc>gAc	p.G270D	XAB2_ENST00000534844.1_Missense_Mutation_p.G267D	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	270					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCGAAATGGCCGCTGCGGAT	0.632								Direct reversal of damage;Nucleotide excision repair (NER)					4	52					0	0	0	0	T	7690779	C	T	7690779	3	4	55	1	0	0	0	0	1	0	0	0	17514	739	26	4	1814	4	XAB2	19	7690779	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	3589550	7690779	51438204	107	10395											
FBN3	84467	broad.mit.edu	37	chr19	8203164	8203164	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaagaggccagggtggccGggtagcagcggcagccgctg	7	3	21	10	3	0	1	0	0	0	1	0	2	0	2	3	6	3	4	3	6	2	1			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:8203164G>A	ENST00000600128.1	-	10	1476	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	FBN3_ENST00000270509.2_Silent_p.P354P|FBN3_ENST00000601739.1_Silent_p.P354P			Q75N90	FBN3_HUMAN	fibrillin 3	354						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGGGTGGCCGGGTAGCAGCG	0.672													8	11					0	0	0	0	A	8203164	G	A	8203164	2	1	55	1	0	0	0	0	0	0	0	1	5749	1103	39	1		1	FBN3	19	8203164	Silent	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	512385	8203164	50925819	108	10396											
CACNA1A	773	broad.mit.edu	37	chr19	13470441	13470441	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtagaggagatcagtccaCccttccatggttatgcactg	9	12	10	10	0	1	2	1	0	0	2	3	3	3	2	3	2	1	3	3	2	2	4			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:13470441C>G	ENST00000360228.5	-	6	956	c.957G>C	c.(955-957)ggG>ggC	p.G319G	CACNA1A_ENST00000573710.2_Silent_p.G319G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	319					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GATCAGTCCACCCTTCCATGG	0.527													9	19					0	0	0	0	G	13470441	C	G	13470441	2	3	55	1	0	0	0	0	0	0	0	1	2563	494	18	4		4	CACNA1A	19	13470441	Silent	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	5267277	13470441	45658542	109	10397											
SYDE1	85360	broad.mit.edu	37	chr19	15220102	15220102	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactggggagcccgccggCgagatctggtacaaccccat	8	5	14	14	3	1	1	0	0	1	1	1	3	1	2	4	5	3	2	4	5	2	1			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:15220102C>T	ENST00000342784.2	+	2	355	c.324C>T	c.(322-324)ggC>ggT	p.G108G	SYDE1_ENST00000600252.1_5'UTR|SYDE1_ENST00000600440.1_Silent_p.G41G	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	108	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						AGCCCGCCGGCGAGATCTGGT	0.692													13	13					0	0	0	0	T	15220102	C	T	15220102	2	4	55	1	0	0	0	0	0	0	0	1	15526	755	27	1		1	SYDE1	19	15220102	Silent	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	1749661	15220102	43908881	110	10398											
RYR1	6261	broad.mit.edu	37	chr19	39006732	39006732	+	Frame_Shift_Del	DEL	G	G	-																															agccccgtcttccaggcttcGgccagccctcggggagtgcc																										TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:39006732delG	ENST00000355481.4	+	65	9691	c.9560delG	c.(9559-9561)cgfs	p.R3187fs	RYR1_ENST00000359596.3_Frame_Shift_Del_p.R3187fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.R3187fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3187					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCAGGCTTCGGCCAGCCCTC	0.657													2	4	---	---	---	---					-	39006732	G	-	39006732	7	5	55	1	0	1	0	1	0	0	0	0	13853	1116	39	0	9818	0	RYR1	19	39006732	Frame_Shift_Del	DEL	G	TCGA-BB-A6UO-01A-12D-A34J-08	23786630	39006732	20122251	111	10399											
IRGQ	126298	broad.mit.edu	37	chr19	44097187	44097187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtgagaggcggcggccGcggtggtggcagtgcccgtg	3	7	22	9	5	0	1	0	1	0	1	0	2	0	1	2	7	1	1	2	7	0	1			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:44097187G>A	ENST00000422989.1	-	3	1018	c.863C>T	c.(862-864)gCg>gTg	p.A288V	L34079.2_ENST00000594374.1_Missense_Mutation_p.A1V|IRGQ_ENST00000602269.1_Missense_Mutation_p.A288V	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	288	Poly-Ala.						protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GGCGGCGGCCGCGGTGGTGGC	0.697													9	23					0	0	0	0	A	44097187	G	A	44097187	3	1	55	1	0	0	0	0	1	0	0	0	7892	1087	38	1	1012	1	IRGQ	19	44097187	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	5090455	44097187	15031796	112	10400											
KCNA7	3743	broad.mit.edu	37	chr19	49575540	49575540	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgcaggcgtgccagggcCgccgcgcccagcccgtagaa	6	3	15	17	7	0	1	0	0	0	1	1	1	0	1	5	2	2	2	5	2	2	1			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:49575540C>T	ENST00000221444.1	-	1	658	c.303G>A	c.(301-303)gcG>gcA	p.A101A		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	101						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GTGCCAGGGCCGCCGCGCCCA	0.746													6	3					0	0	0	0	T	49575540	C	T	49575540	2	4	55	1	0	0	0	0	0	0	0	1	8061	639	23	1		1	KCNA7	19	49575540	Silent	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	5478353	49575540	9553443	113	10401											
SCAF1	58506	broad.mit.edu	37	chr19	50157646	50157646	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggaagaagccaacctggcGagccgagcgaaggcccagga	13	2	15	11	3	0	1	0	0	0	1	0	6	0	3	4	4	4	0	4	4	4	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:50157646G>A	ENST00000360565.3	+	8	3481	c.3357G>A	c.(3355-3357)gcG>gcA	p.A1119A		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1119					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCAACCTGGCGAGCCGAGCGA	0.602													13	43					0	0	0	0	A	50157646	G	A	50157646	2	1	55	1	0	0	0	0	0	0	0	1	13954	1045	37	1		1	SCAF1	19	50157646	Silent	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	582106	50157646	8971337	114	10402											
ZNF835	90485	broad.mit.edu	37	chr19	57176557	57176557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagggcgacgctcaagaGtccctccatcctcgatccct	7	8	10	16	3	1	1	1	0	0	1	6	4	5	2	4	2	0	1	4	2	1	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:57176557G>T	ENST00000537055.2	-	2	241	c.10C>A	c.(10-12)Ctc>Atc	p.L4I		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ACGCTCAAGAGTCCCTCCATC	0.502													12	33					6.31663e-08	6.63246e-08	1	0	T	57176557	G	T	57176557	3	4	55	1	0	0	0	0	1	0	0	0	18279	1029	36	4	1605	4	ZNF835	19	57176557	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08	7018911	57176557	1952426	115	10403											
MYH7B	57644	broad.mit.edu	37	chr20	33588792	33588792	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctcctccccaacaggCggccatgatggccgaggagc	8	5	12	16	2	0	1	0	1	0	0	3	3	3	2	6	4	3	1	6	4	1	0	rs147239130	by1000genomes	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr20:33588792C>T	ENST00000262873.7	+	39	5524	c.5430_splice	c.e39-1	p.A1811_splice		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1769						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCCCAACAGGCGGCCATGATG	0.632													29	96					0	0	0	0	T	33588792	C	T	33588792	5	4	55	1	0	0	0	0	0	0	1	0	10110	782	27	1	5586	1	MYH7B	20	33588792	Splice_Site	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08		33588792	29436728	116	10404											
DLGAP4	22839	broad.mit.edu	37	chr20	35128025	35128025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagtgccaaaagaggagcCcagtcccgctaccaaattcc	12	5	9	15	1	0	1	0	0	0	1	2	2	2	2	6	1	3	1	6	1	4	2			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr20:35128025C>T	ENST00000339266.5	+	7	2045	c.2045C>T	c.(2044-2046)cCc>cTc	p.P682L	DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Missense_Mutation_p.P143L|DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P682L|DLGAP4_ENST00000373913.3_Intron	NM_001042486.2	NP_001035951.1	Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	682					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAAGAGGAGCCCAGTCCCGCT	0.532													9	16					0	0	0	0	T	35128025	C	T	35128025	3	4	55	1	0	0	0	0	1	0	0	0	4599	623	22	4	2190	4	DLGAP4	20	35128025	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	1539233	35128025	27897495	117	10405											
DDX27	55661	broad.mit.edu	37	chr20	47841505	47841505	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaaagtaaaggatcggAagaagaagaagaagaaagga	22	3	12	4	1	1	5	1	0	0	5	2	8	1	8	0	3	0	1	0	3	9	1			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr20:47841505A>G	ENST00000371764.4	+	5	592	c.583A>G	c.(583-585)Aag>Gag	p.K195E	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	195	Asp/Glu/Lys-rich.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAAGGATCGGAAGAAGAAGAA	0.463													26	45					0	0	0	0	G	47841505	A	G	47841505	3	3	55	1	0	0	0	0	1	0	0	0	4386	247	9	5	601	5	DDX27	20	47841505	Missense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	12713480	47841505	15184015	118	10406											
HRH3	11255	broad.mit.edu	37	chr20	60794928	60794928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgcggccagcaccgcggtCcaggctgccgagaagccgcg	7	2	16	16	7	0	1	0	0	0	1	1	2	1	1	5	3	4	2	5	3	1	0			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr20:60794928C>A	ENST00000340177.5	-	1	383	c.99G>T	c.(97-99)tgG>tgT	p.W33C	HRH3_ENST00000317393.6_Missense_Mutation_p.W33C	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	33					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GCACCGCGGTCCAGGCTGCCG	0.776													7	5					2.7689e-08	2.94948e-08	1	0	A	60794928	C	A	60794928	3	1	55	1	0	0	0	0	1	0	0	0	7407	856	30	2	1250	2	HRH3	20	60794928	Missense_Mutation	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	12953423	60794928	2230592	119	10407											
NF2	4771	broad.mit.edu	37	chr22	30038273	30038299	+	Splice_Site	DEL	AGGTAGGCTCAAAGAAGAAAAATGTAT	AGGTAGGCTCAAAGAAGAAAAATGTAT	-																															ttcttacgccgtccaggccaAggtaggctcaaagaagaaaa																										TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr22:30038273_30038299delAGGTAGGCTCAAAGAAGAAAAATGTAT	ENST00000338641.4	+	4	887_888	c.447_splice	c.e4+1	p.149_splice	NF2_ENST00000361452.4_Splice_Site_p.108_splice|NF2_ENST00000361676.4_Splice_Site_p.107_splice|NF2_ENST00000347330.5_Splice_Site_p.66_splice|NF2_ENST00000353887.4_Splice_Site_p.66_splice|NF2_ENST00000403999.3_Splice_Site_p.149_splice|NF2_ENST00000403435.1_Splice_Site_p.149_splice|NF2_ENST00000334961.7_Splice_Site_p.66_splice|NF2_ENST00000361166.4_Splice_Site_p.149_splice|NF2_ENST00000413209.2_Splice_Site_p.149_splice|NF2_ENST00000397789.3_Splice_Site_p.149_splice	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	149	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(5)|p.?(5)|p.K149N(1)|p.K149fs*25(1)|p.K123fs*2(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGG	0.449			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				7	61	---	---	---	---					-	30038299	AGGTAGGCTCAAAGAAGAAAAATGTAT	-	30038273	8	5	55	1	0	1	0	1	0	0	1	0	10427	86	3	0	460	0	NF2	22	30038273	Splice_Site	DEL	AGGTAGGCTCAAAGAAGAAAAATGTAT	TCGA-BB-A6UO-01A-12D-A34J-08		30038273	21266293	120	10408											
CSNK1E	1454	broad.mit.edu	37	chr22	38696830	38696830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtgcgggcgtcccggtacTtcttggccaggccgaagtcg	4	8	17	12	5	1	0	0	0	1	0	3	1	2	0	3	5	2	1	3	5	2	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr22:38696830T>C	ENST00000396832.1	-	5	724	c.464A>G	c.(463-465)aAg>aGg	p.K155R	CSNK1E_ENST00000413574.2_Missense_Mutation_p.K155R|CSNK1E_ENST00000405675.3_Missense_Mutation_p.K155R|CSNK1E_ENST00000403904.1_Missense_Mutation_p.K155R|CSNK1E_ENST00000400206.2_Missense_Mutation_p.K155R|CSNK1E_ENST00000359867.3_Missense_Mutation_p.K155R	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	155	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GTCCCGGTACTTCTTGGCCAG	0.597													41	89					0	0	0	0	C	38696830	T	C	38696830	3	2	55	1	0	0	0	0	1	0	0	0	3985	1609	56	5	810	5	CSNK1E	22	38696830	Missense_Mutation	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	8658557	38696830	12607736	121	10409											
EP300	2033	broad.mit.edu	37	chr22	41553243	41553243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagttagacactggacagtAtcaggagccctggcagtatg	12	8	13	8	0	1	1	1	0	0	1	1	4	1	3	1	3	1	4	1	3	4	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr22:41553243A>G	ENST00000263253.7	+	18	4551	c.3332A>G	c.(3331-3333)tAt>tGt	p.Y1111C		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1111	Bromo.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACTGGACAGTATCAGGAGCCC	0.398			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				24	69					0	0	0	0	G	41553243	A	G	41553243	3	3	55	1	0	0	0	0	1	0	0	0	5186	449	16	5	3402	5	EP300	22	41553243	Missense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	2856413	41553243	9751323	122	10410											
HUWE1	10075	broad.mit.edu	37	chrX	53560975	53560975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttccttttaccatgtgtGagctgaaggcaggcgatctg	7	12	11	11	1	1	2	0	2	1	0	2	3	2	2	3	2	2	2	3	2	2	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:53560975G>A	ENST00000342160.3	-	82	13472	c.13015C>T	c.(13015-13017)Cac>Tac	p.H4339Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.H4339Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4339	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TACCATGTGTGAGCTGAAGGC	0.483													24	39					0	0	0	0	A	53560975	G	A	53560975	3	1	55	1	0	0	0	0	1	0	0	0	7514	1290	45	2	117	2	HUWE1	23	53560975	Missense_Mutation	SNP	G	TCGA-BB-A6UO-01A-12D-A34J-08		53560975	101709585	123	10411											
MTMR8	55613	broad.mit.edu	37	chrX	63557245	63557245	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccatcagaacaatggactAagacactggccttttctacc	13	10	6	12	0	2	2	1	0	1	2	3	3	3	3	3	2	2	0	3	2	4	4			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:63557245A>T	ENST00000374852.3	-	9	1071	c.1004T>A	c.(1003-1005)tTa>tAa	p.L335*	MTMR8_ENST00000453546.1_Nonsense_Mutation_p.L335*|MTMR8_ENST00000478487.1_5'UTR	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	335	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ACAATGGACTAAGACACTGGC	0.453													13	48					0	0	0	0	T	63557245	A	T	63557245	4	4	55	1	0	0	0	0	0	1	0	0	10019	372	13	5	1134	5	MTMR8	23	63557245	Nonsense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	9996270	63557245	91713315	124	10412											
KIF4A	24137	broad.mit.edu	37	chrX	69519024	69519024	+	Frame_Shift_Del	DEL	T	T	-																															tgagaaagctcaaataaataTacgagaggatcctaaggaag																										TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:69519024delT	ENST00000374403.3	+	5	570	c.488delT	c.(487-489)aafs	p.I163fs	KIF4A_ENST00000374388.3_Frame_Shift_Del_p.I163fs	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	163	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CAAATAAATATACGAGAGGAT	0.308													27	70	---	---	---	---					-	69519024	T	-	69519024	7	5	55	1	0	1	0	1	0	0	0	0	8354	1406	49	0	502	0	KIF4A	23	69519024	Frame_Shift_Del	DEL	T	TCGA-BB-A6UO-01A-12D-A34J-08	5961779	69519024	85751536	125	10413											
C1GALT1C1	29071	broad.mit.edu	37	chrX	119760995	119760995	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccaagcatcacacccttCaaaaaggagctgctttcaga	13	9	6	13	0	3	1	3	0	0	1	4	2	4	2	2	1	3	3	2	1	3	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:119760995C>T	ENST00000304661.5	-	2	265	c.27G>A	c.(25-27)ttG>ttA	p.L9L	C1GALT1C1_ENST00000371313.2_Silent_p.L9L	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	9						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						TCACACCCTTCAAAAAGGAGC	0.343													36	117					0	0	0	0	T	119760995	C	T	119760995	2	4	55	1	0	0	0	0	0	0	0	1	1972	825	29	2		2	C1GALT1C1	23	119760995	Silent	SNP	C	TCGA-BB-A6UO-01A-12D-A34J-08	50241971	119760995	35509565	126	10414											
XIAP	331	broad.mit.edu	37	chrX	123019596	123019596	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatttgtagaagagtttaaTagattaaaaacttttgctaa	17	15	7	2	0	0	3	0	0	0	3	0	4	0	3	0	0	2	3	0	0	9	9			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:123019596T>C	ENST00000371199.3	+	2	383	c.84T>C	c.(82-84)aaT>aaC	p.N28N	XIAP_ENST00000434753.3_Silent_p.N28N|XIAP_ENST00000355640.3_Silent_p.N28N|XIAP_ENST00000468691.1_Intron	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	28					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AAGAGTTTAATAGATTAAAAA	0.368									X-linked Lymphoproliferative syndrome				57	169					0	0	0	0	C	123019596	T	C	123019596	2	2	55	1	0	0	0	0	0	0	0	1	17524	1403	49	5		5	XIAP	23	123019596	Silent	SNP	T	TCGA-BB-A6UO-01A-12D-A34J-08	3258601	123019596	32250964	127	10415											
HPRT1	3251	broad.mit.edu	37	chrX	133620520	133620520	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagtcaacaggggacataaAagtaattggtggagatgatc	15	8	12	6	0	1	2	1	1	0	1	2	4	1	3	1	4	1	1	1	4	4	3			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:133620520A>G	ENST00000298556.7	+	4	503	c.344A>G	c.(343-345)aAa>aGa	p.K115R	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	115					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Mercaptopurine(DB01033)|Thioguanine(DB00352)	GGGGACATAAAAGTAATTGGT	0.308													11	30					0	0	0	0	G	133620520	A	G	133620520	3	3	55	1	0	0	0	0	1	0	0	0	7388	14	1	5	358	5	HPRT1	23	133620520	Missense_Mutation	SNP	A	TCGA-BB-A6UO-01A-12D-A34J-08	10600924	133620520	21650040	128	10416											
SCNN1D	6339	broad.mit.edu	37	chr1	1219451	1219451	+	Frame_Shift_Del	DEL	G	G	-																															gagaatggaagcagccacacGggggggctctcacctccagg																										TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:1219451delG	ENST00000338555.2	+	3	1191	c.47delG	c.(46-48)cgfs	p.R16fs	SCNN1D_ENST00000400928.3_Frame_Shift_Del_p.R16fs|SCNN1D_ENST00000467651.2_3'UTR|SCNN1D_ENST00000379116.5_Frame_Shift_Del_p.G150fs|SCNN1D_ENST00000325425.8_Frame_Shift_Del_p.G52fs					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCAGCCACACGGGGGGGCTCT	0.687													2	4	---	---	---	---					-	1219451	G	-	1219451	7	5	56	1	0	1	0	1	0	0	0	0	14016	1116	39	0	157	0	SCNN1D	1	1219451	Frame_Shift_Del	DEL	G	TCGA-C9-A47Z-01A-11D-A24D-08		1219451	248031170	1	10417											
MTOR	2475	broad.mit.edu	37	chr1	11199700	11199700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattttctgccagtcctctaCgatacgctggcagccctgga	7	11	10	13	2	2	0	0	0	2	0	3	3	3	1	3	2	4	2	3	2	2	4			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:11199700C>T	ENST00000361445.4	-	35	4964	c.4888G>A	c.(4888-4890)Gta>Ata	p.V1630I	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1630	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAGTCCTCTACGATACGCTGG	0.507													31	128					0	0	0	0	T	11199700	C	T	11199700	3	4	56	1	0	0	0	0	1	0	0	0	10024	536	19	1	2857	1	MTOR	1	11199700	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	9980249	11199700	238050921	2	10418											
PLOD1	5351	broad.mit.edu	37	chr1	12030858	12030858	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacggagaagctctacccCggctactacaccagggtggg	10	6	13	12	2	1	2	0	1	1	1	1	3	1	2	3	4	4	2	3	4	4	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:12030858C>T	ENST00000196061.4	+	17	1914	c.1887C>T	c.(1885-1887)ccC>ccT	p.P629P	PLOD1_ENST00000376369.3_Silent_p.P676P	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	629					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGCTCTACCCCGGCTACTACA	0.602													23	23					0	0	0	0	T	12030858	C	T	12030858	2	4	56	1	0	0	0	0	0	0	0	1	12173	639	23	1		1	PLOD1	1	12030858	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	831158	12030858	237219763	3	10419											
CLSPN	63967	broad.mit.edu	37	chr1	36211157	36211157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actctgatgaggctggagtgGaggcatctacatcacaacaa	13	8	11	9	0	3	2	1	2	2	0	3	4	3	4	0	4	2	2	0	4	3	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:36211157G>A	ENST00000251195.5	-	16	2957	c.2861C>T	c.(2860-2862)tCc>tTc	p.S954F	CLSPN_ENST00000318121.3_Missense_Mutation_p.S954F|CLSPN_ENST00000373220.3_Missense_Mutation_p.S890F|CLSPN_ENST00000520551.1_Missense_Mutation_p.S901F			Q9HAW4	CLSPN_HUMAN	claspin	954					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCTGGAGTGGAGGCATCTAC	0.453													11	17					0	0	0	0	A	36211157	G	A	36211157	3	1	56	1	0	0	0	0	1	0	0	0	3590	1174	41	2	1198	2	CLSPN	1	36211157	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	24180299	36211157	213039464	4	10420											
PCSK9	255738	broad.mit.edu	37	chr1	55505553	55505555	+	In_Frame_Del	DEL	CTG	CTG	-																															ggtcctggtggccgctgccaCtgctgctgctgctgctgctg																								rs67610340		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:55505553_55505555delCTG	ENST00000302118.5	+	1	333_335	c.43_45delCTG	c.(43-45)del	p.L23del	PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						gccgctgccactgctgctgctgc	0.709													3	6	---	---	---	---					-	55505555	CTG	-	55505553	7	5	56	1	0	1	0	1	0	0	0	0	11677	564	20	0	45	0	PCSK9	1	55505553	In_Frame_Del	DEL	CTG	TCGA-C9-A47Z-01A-11D-A24D-08	19294396	55505553	193745068	5	10421											
TNNI3K	51086	broad.mit.edu	37	chr1	75009657	75009657	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagtagcagctttgaggaCagcagctgacagcattcggc	12	8	12	9	1	0	2	0	2	0	0	1	3	0	3	0	2	5	6	0	2	3	4			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:75009657C>G	ENST00000370891.2	+	27	2818	c.2802C>G	c.(2800-2802)gaC>gaG	p.D934E	FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.D934E|TNNI3K_ENST00000326637.3_Missense_Mutation_p.D833E|TNNI3K_ENST00000465473.1_3'UTR	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						GCTTTGAGGACAGCAGCTGAC	0.448													4	24					0	0	0	0	G	75009657	C	G	75009657	3	3	56	1	0	0	0	0	1	0	0	0	16423	477	17	4	2952	4	TNNI3K	1	75009657	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	19504104	75009657	174240964	6	10422											
ZNF644	84146	broad.mit.edu	37	chr1	91405593	91405593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgggacattaagatggcGaaagtgactattcccatcta	12	11	9	9	1	1	2	0	1	1	1	2	4	2	3	2	2	0	0	2	2	4	5			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:91405593G>A	ENST00000370440.1	-	3	1535	c.1318C>T	c.(1318-1320)Cgc>Tgc	p.R440C	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.R440C			Q9H582	ZN644_HUMAN	zinc finger protein 644	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTAAGATGGCGAAAGTGACTA	0.418													11	61					0	0	0	0	A	91405593	G	A	91405593	3	1	56	1	0	0	0	0	1	0	0	0	18155	1058	37	1	2681	1	ZNF644	1	91405593	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	16395936	91405593	157845028	7	10423											
AP4B1	10717	broad.mit.edu	37	chr1	114438918	114438918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtcctagcatgtcctggCactcagcaggtcgggagagg	9	7	14	11	2	1	1	1	0	0	1	4	2	3	1	2	4	3	3	2	4	2	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:114438918C>A	ENST00000369569.1	-	8	1752	c.1472G>T	c.(1471-1473)tGc>tTc	p.C491F	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Missense_Mutation_p.C323F|AP4B1_ENST00000256658.4_Missense_Mutation_p.C491F	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	491					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGTCCTGGCACTCAGCAGG	0.438													20	45					1.64113e-05	1.81389e-05	1	0	A	114438918	C	A	114438918	3	1	56	1	0	0	0	0	1	0	0	0	752	710	25	4	759	4	AP4B1	1	114438918	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	23033325	114438918	134811703	8	10424											
GOLPH3L	55204	broad.mit.edu	37	chr1	150667254	150667254	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcttcctcactttccaTcttcttttcagagttcttgc	5	19	4	13	0	6	1	2	0	4	1	8	1	8	1	2	0	1	1	2	0	0	7			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:150667254T>A	ENST00000271732.3	-	2	105	c.61A>T	c.(61-63)Atg>Ttg	p.M21L	GOLPH3L_ENST00000479757.1_5'UTR|GOLPH3L_ENST00000540514.1_Missense_Mutation_p.M21L	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	21						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCACTTTCCATCTTCTTTTCA	0.428													37	23					0	0	0	0	A	150667254	T	A	150667254	3	1	56	1	0	0	0	0	1	0	0	0	6617	1435	50	5	812	5	GOLPH3L	1	150667254	Missense_Mutation	SNP	T	TCGA-C9-A47Z-01A-11D-A24D-08	36228336	150667254	98583367	9	10425											
CD1A	909	broad.mit.edu	37	chr1	158224994	158224994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactcatacctgggacagcaAttccagcaccatcgttttcc	10	10	7	14	1	1	0	1	0	0	0	4	2	3	1	4	1	3	3	4	1	2	4			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:158224994A>G	ENST00000289429.5	+	2	712	c.179A>G	c.(178-180)aAt>aGt	p.N60S		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	60					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGGGACAGCAATTCCAGCACC	0.488													10	43					0	0	0	0	G	158224994	A	G	158224994	3	3	56	1	0	0	0	0	1	0	0	0	3003	101	4	5	185	5	CD1A	1	158224994	Missense_Mutation	SNP	A	TCGA-C9-A47Z-01A-11D-A24D-08	7557740	158224994	91025627	10	10426											
OR6K2	81448	broad.mit.edu	37	chr1	158669950	158669950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgaaccacaaaatggcaGtgtagagatccaggcaatct	15	8	9	9	1	1	1	0	0	1	1	3	3	2	1	2	2	1	3	2	2	5	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:158669950G>T	ENST00000359610.2	-	1	536	c.493C>A	c.(493-495)Ctg>Atg	p.L165M		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L165M(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CAAAATGGCAGTGTAGAGATC	0.488													19	28					2.35188e-11	2.83382e-11	1	0	T	158669950	G	T	158669950	3	4	56	1	0	0	0	0	1	0	0	0	11273	1020	36	4	485	4	OR6K2	1	158669950	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	444956	158669950	90580671	11	10427											
ATF6	22926	broad.mit.edu	37	chr1	161928383	161928383	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaccaacaccttctttggctCccctcccgcagccacagagg	9	7	7	18	1	1	1	0	0	1	1	3	1	3	1	6	2	3	2	6	2	2	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:161928383C>G	ENST00000367942.3	+	16	2019	c.1952C>G	c.(1951-1953)tCc>tGc	p.S651C		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	651					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TTCTTTGGCTCCCCTCCCGCA	0.532													24	79					0	0	0	0	G	161928383	C	G	161928383	3	3	56	1	0	0	0	0	1	0	0	0	1088	855	30	2	2014	2	ATF6	1	161928383	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	3258433	161928383	87322238	12	10428											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185277930	185277930	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatttacttctgatactctAcctgctttactcgatccatc	8	18	3	12	1	2	1	0	1	2	0	5	2	3	1	2	0	5	1	2	0	5	8			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:185277930A>G	ENST00000367498.3	-	5	980		c.e5+1		IVNS1ABP_ENST00000367497.1_Splice_Site|IVNS1ABP_ENST00000392007.3_Splice_Site|IVNS1ABP_ENST00000459929.1_Splice_Site	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein						interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CTGATACTCTACCTGCTTTAC	0.303													8	24					0	0	0	0	G	185277930	A	G	185277930	5	3	56	1	0	0	0	0	0	0	1	0	7983	405	14	5	1613	5	IVNS1ABP	1	185277930	Splice_Site	SNP	A	TCGA-C9-A47Z-01A-11D-A24D-08	23349547	185277930	63972691	13	10429											
CRB1	23418	broad.mit.edu	37	chr1	197390396	197390396	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctacaccgggtccctgTgtgaaatcgcaaccacactt	9	9	9	14	2	0	1	0	1	0	0	2	1	1	1	3	2	2	2	3	2	3	2	rs62636264		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:197390396T>A	ENST00000367397.1	+	0	439				CRB1_ENST00000367399.2_Missense_Mutation_p.C368S|CRB1_ENST00000544212.1_De_novo_Start_OutOfFrame|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.C480S|CRB1_ENST00000367400.3_Missense_Mutation_p.C480S|CRB1_ENST00000543483.1_Missense_Mutation_p.C179S|CRB1_ENST00000535699.1_Missense_Mutation_p.C411S			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGGGTCCCTGTGTGAAATCGC	0.502													13	35					0	0	0	0	A	197390396	T	A	197390396	1	1	56	1	0	0	0	0	0	0	0	0	3878	1696	59	5		5	CRB1	1	197390396	Translation_Start_Site	SNP	T	TCGA-C9-A47Z-01A-11D-A24D-08	12112466	197390396	51860225	14	10430											
OR2M5	127059	broad.mit.edu	37	chr1	248308511	248308511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggaatcttcaatcacaGccccacccacaccttcctct	9	9	4	19	0	4	0	2	0	2	0	5	1	5	1	6	1	1	0	6	1	2	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:248308511G>C	ENST00000366476.1	+	1	62	c.62G>C	c.(61-63)aGc>aCc	p.S21T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCAATCACAGCCCCACCCAC	0.473													96	102					0	0	0	0	C	248308511	G	C	248308511	3	2	56	1	0	0	0	0	1	0	0	0	11084	971	34	4	64	4	OR2M5	1	248308511	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	50918115	248308511	942110	15	10431											
HPCAL1	3241	broad.mit.edu	37	chr2	10560021	10560021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggccacctgaccgtggaCgagttcaagaagatctacgc	11	6	11	13	4	2	3	1	1	1	2	2	5	2	4	4	2	1	1	4	2	3	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:10560021C>T	ENST00000381765.3	+	4	664	c.138C>T	c.(136-138)gaC>gaT	p.D46D	HPCAL1_ENST00000307845.3_Silent_p.D46D	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	46	EF-hand 1.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		TGACCGTGGACGAGTTCAAGA	0.617													29	36					0	0	0	0	T	10560021	C	T	10560021	2	4	56	1	0	0	0	0	0	0	0	1	7380	535	19	1		1	HPCAL1	2	10560021	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08		10560021	232639352	16	10432											
CCDC85A	114800	broad.mit.edu	37	chr2	56602951	56602951	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgttgattttctactaagGgttcttttaggttgtcatca	7	20	9	5	0	4	1	2	1	2	0	4	1	4	1	0	2	1	4	0	2	3	10			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:56602951G>T	ENST00000407595.2	+	5	1955	c.1452_splice	c.e5-1	p.G485_splice	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	485										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTCTACTAAGGGTTCTTTTAG	0.403													17	7					0.000566183	0.00060751	1	0	T	56602951	G	T	56602951	5	4	56	1	0	0	0	0	0	0	1	0	2886	1246	43	4	1471	4	CCDC85A	2	56602951	Splice_Site	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	46042930	56602951	186596422	17	10433											
ADD2	119	broad.mit.edu	37	chr2	70904981	70904981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaatcggcatgccactgctgGatttctccacctcgtcagcc	7	10	9	15	2	2	0	1	0	1	0	5	2	2	1	4	2	3	2	4	2	1	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:70904981G>T	ENST00000264436.3	-	12	1856	c.1412C>A	c.(1411-1413)tCc>tAc	p.S471Y	ADD2_ENST00000430656.1_Missense_Mutation_p.S487Y|ADD2_ENST00000407644.2_Missense_Mutation_p.S471Y|ADD2_ENST00000413157.2_Missense_Mutation_p.S471Y|ADD2_ENST00000355733.3_Missense_Mutation_p.S471Y	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	471					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GCCACTGCTGGATTTCTCCAC	0.547													15	44					7.93312e-07	9.11069e-07	1	0	T	70904981	G	T	70904981	3	4	56	1	0	0	0	0	1	0	0	0	305	1174	41	2	965	2	ADD2	2	70904981	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	14302030	70904981	172294392	18	10434											
LOXL3	84695	broad.mit.edu	37	chr2	74777456	74777456	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggtcccactgcagctcaaGttgtccagccagatgcggcc	7	8	11	15	2	1	1	1	0	0	1	4	1	3	1	4	2	4	3	4	2	1	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:74777456G>A	ENST00000264094.3	-	3	404	c.333C>T	c.(331-333)aaC>aaT	p.N111N	LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409986.1_Silent_p.N111N|LOXL3_ENST00000409249.1_Silent_p.N111N|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409549.1_Silent_p.N111N|LOXL3_ENST00000393937.2_Silent_p.N111N	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	111	SRCR 1.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TGCAGCTCAAGTTGTCCAGCC	0.592													20	59					0	0	0	0	A	74777456	G	A	74777456	2	1	56	1	0	0	0	0	0	0	0	1	8965	1020	36	4		4	LOXL3	2	74777456	Silent	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	3872475	74777456	168421917	19	10435											
FBLN7	129804	broad.mit.edu	37	chr2	112922739	112922739	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggacaggggagcagcccCactgtagaggtatcgtctct	8	8	13	12	1	1	1	0	0	1	1	3	3	1	3	3	4	2	3	3	4	2	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:112922739C>A	ENST00000331203.2	+	3	668	c.397C>A	c.(397-399)Cac>Aac	p.H133N	FBLN7_ENST00000409903.1_Missense_Mutation_p.H133N|FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409667.3_Missense_Mutation_p.H133N|FBLN7_ENST00000409450.3_Missense_Mutation_p.H133N	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	133	Sushi.				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGAGCAGCCCCACTGTAGAGG	0.557													32	24					2.81731e-10	3.36703e-10	1	0	A	112922739	C	A	112922739	3	1	56	1	0	0	0	0	1	0	0	0	5746	594	21	4	407	4	FBLN7	2	112922739	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	38145283	112922739	130276634	20	10436											
ABCA12	26154	broad.mit.edu	37	chr2	215880300	215880300	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatctctctgaaagagacaGgttgcagaattctttcattg	11	13	10	7	0	4	3	1	1	3	2	5	5	4	4	0	2	1	2	0	2	2	4			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:215880300G>A	ENST00000272895.7	-	15	2089	c.1870C>T	c.(1870-1872)Ctg>Ttg	p.L624L	ABCA12_ENST00000389661.4_Silent_p.L306L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	624					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAAAGAGACAGGTTGCAGAAT	0.433													5	16					0	0	0	0	A	215880300	G	A	215880300	2	1	56	1	0	0	0	0	0	0	0	1	30	991	35	4		4	ABCA12	2	215880300	Silent	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	102957561	215880300	27319073	21	10437											
MARCH4	57574	broad.mit.edu	37	chr2	217142549	217142549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggatggcggctgcaacCtgaaccttctcaatgaccgt	9	8	10	14	2	1	2	1	2	1	0	2	3	1	3	4	3	3	2	4	3	3	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:217142549C>A	ENST00000273067.4	-	3	2477	c.711G>T	c.(709-711)caG>caT	p.Q237H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	237						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CGGCTGCAACCTGAACCTTCT	0.577													26	36					4.87955e-14	6.02768e-14	1	0	A	217142549	C	A	217142549	3	1	56	1	0	0	0	0	1	0	0	0	9372	680	24	4	529	4	MARCH4	2	217142549	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	1262249	217142549	26056824	22	10438											
SPHKAP	80309	broad.mit.edu	37	chr2	228884074	228884074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggctgcacaagctaacGccacttctagagcactctgg	10	8	10	13	1	2	1	0	0	2	1	2	1	2	1	1	2	4	4	1	2	3	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:228884074G>T	ENST00000392056.3	-	7	1542	c.1496C>A	c.(1495-1497)gCg>gAg	p.A499E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A499E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	499						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACAAGCTAACGCCACTTCTAG	0.527													9	33					0.00448238	0.00467312	1	0	T	228884074	G	T	228884074	3	4	56	1	0	0	0	0	1	0	0	0	15138	1087	38	3	3630	3	SPHKAP	2	228884074	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	11741525	228884074	14315299	23	10439											
LRRN1	57633	broad.mit.edu	37	chr3	3887354	3887354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctctggaaagcttgatGctgaacaacaatgccttgaa	12	10	9	10	0	1	3	0	3	1	0	1	4	1	4	2	1	6	3	2	1	5	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr3:3887354G>T	ENST00000319331.3	+	2	1790	c.1029G>T	c.(1027-1029)atG>atT	p.M343I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	343						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAAGCTTGATGCTGAACAACA	0.483													9	30					1.76689e-08	2.06138e-08	1	0	T	3887354	G	T	3887354	3	4	56	1	0	0	0	0	1	0	0	0	9098	1319	46	4	1031	4	LRRN1	3	3887354	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08		3887354	194135076	24	10440											
FYCO1	79443	broad.mit.edu	37	chr3	46009275	46009275	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtgccagctgggtctccagGaactgcagctgccgggtcag	6	8	15	12	1	2	0	1	0	1	0	3	1	2	1	3	3	6	3	3	3	1	0			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr3:46009275G>A	ENST00000296137.2	-	8	1756	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	FYCO1_ENST00000535325.1_Silent_p.F517F	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	517					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GGGTCTCCAGGAACTGCAGCT	0.582													33	100					0	0	0	0	A	46009275	G	A	46009275	2	1	56	1	0	0	0	0	0	0	0	1	6173	1165	41	2		2	FYCO1	3	46009275	Silent	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	42121921	46009275	152013155	25	10441											
IFT122	55764	broad.mit.edu	37	chr3	129233302	129233302	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctggcccggcacgcctatGacaagctgcgtggcctgtac	6	7	14	14	3	0	1	0	1	0	0	0	1	0	1	3	4	3	4	3	4	3	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr3:129233302G>C	ENST00000296266.3	+	26	3403	c.3211G>C	c.(3211-3213)Gac>Cac	p.D1071H	IFT122_ENST00000431818.2_Missense_Mutation_p.D870H|IFT122_ENST00000348417.2_Missense_Mutation_p.D1020H|IFT122_ENST00000440957.2_Missense_Mutation_p.D811H|IFT122_ENST00000504021.1_Missense_Mutation_p.D897H|IFT122_ENST00000349441.2_Missense_Mutation_p.D910H|IFT122_ENST00000347300.2_Missense_Mutation_p.D961H|IFT122_ENST00000507564.1_Missense_Mutation_p.D1013H	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	1020					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCACGCCTATGACAAGCTGCG	0.592													17	83					0	0	0	0	C	129233302	G	C	129233302	3	2	56	1	0	0	0	0	1	0	0	0	7608	1290	45	2	3316	2	IFT122	3	129233302	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	83224027	129233302	68789128	26	10442											
YEATS2	55689	broad.mit.edu	37	chr3	183474440	183474440	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttatcatggacaagcaGccggggcaggtgattggagc	10	9	15	7	1	1	1	1	1	0	0	1	3	1	3	1	5	3	3	1	5	3	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr3:183474440G>A	ENST00000305135.5	+	12	1710	c.1515G>A	c.(1513-1515)caG>caA	p.Q505Q		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	505					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGGACAAGCAGCCGGGGCAGG	0.458													43	50					0	0	0	0	A	183474440	G	A	183474440	2	1	56	1	0	0	0	0	0	0	0	1	17568	962	34	4		4	YEATS2	3	183474440	Silent	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	54241138	183474440	14547990	27	10443											
SLC4A4	8671	broad.mit.edu	37	chr4	72338772	72338772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaattttcaacatgctGtcatggtcctcaggaattag	11	14	8	8	0	3	0	3	0	0	0	4	1	4	1	1	2	3	2	1	2	4	4			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr4:72338772G>T	ENST00000512686.1	+	11	2052	c.1856G>T	c.(1855-1857)tGt>tTt	p.C619F	SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000514331.1_3'UTR			Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TCAACATGCTGTCATGGTCCT	0.428													18	12					1.67942e-08	1.99092e-08	1	0	T	72338772	G	T	72338772	3	4	56	1	0	0	0	0	1	0	0	0	14744	1392	48	4		4	SLC4A4	4	72338772	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08		72338772	118815504	28	10444											
CDS1	1040	broad.mit.edu	37	chr4	85525494	85525494	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagaacccctgagattctCaaaaaagctctatctggttt	13	12	7	9	0	3	2	1	1	3	2	4	4	3	2	2	1	2	2	2	1	6	4			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr4:85525494C>A	ENST00000295887.5	+	2	639	c.216C>A	c.(214-216)ctC>ctA	p.L72L		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	72					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CTGAGATTCTCAAAAAAGCTC	0.378													5	20					0.014758	0.0152776	1	0	A	85525494	C	A	85525494	2	1	56	1	0	0	0	0	0	0	0	1	3206	813	29	2		2	CDS1	4	85525494	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	13186722	85525494	105628782	29	10445											
ADAM29	11086	broad.mit.edu	37	chr4	175898692	175898693	+	Frame_Shift_Ins	INS	-	-	A																															caccccctaagagaaagaagINSaaaaagaagttctgttatct																										TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr4:175898692_175898693insA	ENST00000359240.3	+	5	2686_2687	c.2016_2017insA	c.(2014-2019)aaaaaafs	p.KK672fs	ADAM29_ENST00000445694.1_Frame_Shift_Ins_p.KK672fs|ADAM29_ENST00000514159.1_Frame_Shift_Ins_p.KK672fs|ADAM29_ENST00000404450.4_Frame_Shift_Ins_p.KK672fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	672	Poly-Lys.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.K672N(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGAGAAAGAAGAAAAAGAAGTT	0.356													20	9	---	---	---	---					A	175898693	-	A	175898692	7	5	56	1	0	1	1	0	0	0	0	0	247	933	33	0	2018	0	ADAM29	4	175898692	Frame_Shift_Ins	INS	-	TCGA-C9-A47Z-01A-11D-A24D-08	90373198	175898692	15255584	30	10446											
DNAH5	1767	broad.mit.edu	37	chr5	13862786	13862786	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggtgaatgttttattgTcccattcattaatcacttgc	10	16	7	8	1	2	1	2	1	0	0	3	2	3	1	1	1	1	1	1	1	4	6			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:13862786T>C	ENST00000265104.4	-	29	4771	c.4667A>G	c.(4666-4668)gAc>gGc	p.D1556G	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1556	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTTTTATTGTCCCATTCATT	0.448									Kartagener syndrome				15	84					0	0	0	0	C	13862786	T	C	13862786	3	2	56	1	0	0	0	0	1	0	0	0	4641	1667	58	5	9411	5	DNAH5	5	13862786	Missense_Mutation	SNP	T	TCGA-C9-A47Z-01A-11D-A24D-08		13862786	167052474	31	10447											
CDH9	1007	broad.mit.edu	37	chr5	26885932	26885932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtaggtgctcattttgttgCgactgtagccatctttccga	7	15	10	9	2	2	0	1	0	1	0	3	2	3	0	2	1	3	4	2	1	2	6			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:26885932C>T	ENST00000231021.4	-	11	1845	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	558	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATTTTGTTGCGACTGTAGCC	0.383													7	33					0	0	0	0	T	26885932	C	T	26885932	3	4	56	1	0	0	0	0	1	0	0	0	3146	768	27	1	704	1	CDH9	5	26885932	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	13023146	26885932	154029328	32	10448											
THBS4	7060	broad.mit.edu	37	chr5	79372723	79372723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagacaactgccccaccgtCattaacagtgcccagctgga	12	6	8	15	1	1	1	1	0	0	1	1	2	1	2	4	1	5	1	4	1	2	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:79372723C>T	ENST00000350881.2	+	16	2128	c.1938C>T	c.(1936-1938)gtC>gtT	p.V646V	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Silent_p.V555V|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	646			V -> I (in dbSNP:rs2229396).		endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GCCCCACCGTCATTAACAGTG	0.542													42	91					0	0	0	0	T	79372723	C	T	79372723	2	4	56	1	0	0	0	0	0	0	0	1	15950	813	29	2		2	THBS4	5	79372723	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	52486791	79372723	101542537	33	10449											
DDX46	9879	broad.mit.edu	37	chr5	134153311	134153311	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaagctcaattatgtgccGttagagaaacaagaagaaga	17	7	10	7	1	1	4	1	0	0	4	1	5	1	4	2	0	3	2	2	0	8	2	rs146021738	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:134153311G>A	ENST00000452510.2	+	20	2897	c.2739G>A	c.(2737-2739)ccG>ccA	p.P913P	DDX46_ENST00000354283.4_Silent_p.P912P	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	912					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTATGTGCCGTTAGAGAAAC	0.413													4	28					0	0	0	0	A	134153311	G	A	134153311	2	1	56	1	0	0	0	0	0	0	0	1	4396	1132	40	1		1	DDX46	5	134153311	Silent	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	54780588	134153311	46761949	34	10450											
HTR4	3360	broad.mit.edu	37	chr5	147863825	147863825	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagaatcatagttacccCaagacaggcttccttgcagt	13	9	8	11	0	1	2	1	0	0	2	2	3	2	2	3	1	2	3	3	1	4	4			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:147863825C>G	ENST00000360693.3	-	7	1332	c.1194G>C	c.(1192-1194)ttG>ttC	p.L398F	HTR4_ENST00000517929.1_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000314512.6_Intron	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	359					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	atagttaccccaagacaggct	0.408													4	15					0	0	0	0	G	147863825	C	G	147863825	3	3	56	1	0	0	0	0	1	0	0	0	7502	593	21	4	268	4	HTR4	5	147863825	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	13710514	147863825	33051435	35	10451											
ABCF1	23	broad.mit.edu	37	chr6	30550906	30550906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgaaaatgacttctccGtgtcccaggcggagatgtcc	9	9	11	12	2	1	3	0	2	1	1	4	4	3	3	3	2	1	1	3	2	2	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:30550906G>A	ENST00000326195.8	+	10	968	c.856G>A	c.(856-858)Gtg>Atg	p.V286M	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.V248M	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	286					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGACTTCTCCGTGTCCCAGGC	0.498													33	50					0	0	0	0	A	30550906	G	A	30550906	3	1	56	1	0	0	0	0	1	0	0	0	65	1145	40	1	894	1	ABCF1	6	30550906	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08		30550906	140564161	36	10452											
LHFPL5	222662	broad.mit.edu	37	chr6	35773625	35773625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcaacacaccgcaggcaGgctacttcggccttttctcc	7	9	9	16	3	2	0	1	0	1	0	4	0	2	0	3	3	2	3	3	3	2	4			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:35773625G>A	ENST00000360215.1	+	1	555	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	LHFPL5_ENST00000373853.1_Missense_Mutation_p.G60S	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	60						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACCGCAGGCAGGCTACTTCGG	0.602													83	168					0	0	0	0	A	35773625	G	A	35773625	3	1	56	1	0	0	0	0	1	0	0	0	8822	1000	35	4	180	4	LHFPL5	6	35773625	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	5222719	35773625	135341442	37	10453											
PEX6	5190	broad.mit.edu	37	chr6	42932843	42932843	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacttagaacgcgtagcTgggaggcccggtcctcattt	7	10	13	11	3	1	1	1	0	0	1	2	2	2	2	2	4	2	3	2	4	3	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:42932843T>C	ENST00000304611.8	-	15	2705	c.2636A>G	c.(2635-2637)cAg>cGg	p.Q879R	PEX6_ENST00000244546.4_3'UTR	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	879					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AACGCGTAGCTGGGAGGCCCG	0.542													31	49					0	0	0	0	C	42932843	T	C	42932843	3	2	56	1	0	0	0	0	1	0	0	0	11822	1580	55	5	318	5	PEX6	6	42932843	Missense_Mutation	SNP	T	TCGA-C9-A47Z-01A-11D-A24D-08	7159218	42932843	128182224	38	10454											
TFAP2B	7021	broad.mit.edu	37	chr6	50810826	50810826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactttgtaaagaatttacGgatctactggcgcaggaccg	12	10	10	9	3	1	1	0	0	1	1	1	3	1	3	1	3	3	2	1	3	6	5	rs151001753	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:50810826G>A	ENST00000263046.4	+	8	1297	c.1131G>A	c.(1129-1131)acG>acA	p.T377T	TFAP2B_ENST00000393655.3_Silent_p.T368T			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	368				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAGAATTTACGGATCTACTGG	0.557													70	92					0	0	0	0	A	50810826	G	A	50810826	2	1	56	1	0	0	0	0	0	0	0	1	15882	1103	39	1		1	TFAP2B	6	50810826	Silent	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	7877983	50810826	120304241	39	10455											
BMP5	653	broad.mit.edu	37	chr6	55638975	55638975	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaagaaggccaccatgAatggttgttttgactgaggt	10	12	12	7	0	0	5	0	4	0	1	0	5	0	5	3	3	0	2	3	3	3	4			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:55638975A>C	ENST00000370830.3	-	4	1597	c.899T>G	c.(898-900)tTc>tGc	p.F300C	BMP5_ENST00000446683.2_Missense_Mutation_p.F300C	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	300					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGCCACCATGAATGGTTGTTT	0.443													38	48					0	0	0	0	C	55638975	A	C	55638975	3	2	56	1	0	0	0	0	1	0	0	0	1468	246	9	5	481	5	BMP5	6	55638975	Missense_Mutation	SNP	A	TCGA-C9-A47Z-01A-11D-A24D-08	4828149	55638975	115476092	40	10456											
DOPEY1	23033	broad.mit.edu	37	chr6	83848195	83848195	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaaggttactgcacaagaTttaataggcaatcgaaacat	16	10	8	7	1	1	1	1	0	0	1	2	2	1	1	0	2	3	3	0	2	7	4			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:83848195T>G	ENST00000349129.2	+	21	4694	c.4434T>G	c.(4432-4434)gaT>gaG	p.D1478E	DOPEY1_ENST00000237163.5_Missense_Mutation_p.D1459E|DOPEY1_ENST00000369739.3_Missense_Mutation_p.D1469E|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1478					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTGCACAAGATTTAATAGGCA	0.383													14	32					0	0	0	0	G	83848195	T	G	83848195	3	3	56	1	0	0	0	0	1	0	0	0	4743	1490	52	5	4508	5	DOPEY1	6	83848195	Missense_Mutation	SNP	T	TCGA-C9-A47Z-01A-11D-A24D-08	28209220	83848195	87266872	41	10457											
C6orf165	154313	broad.mit.edu	37	chr6	88140792	88140792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcagaaaactagaatggCttttcccagaaacaacagca	17	9	6	9	0	1	3	1	0	0	3	2	3	2	3	1	1	4	2	1	1	6	4			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:88140792C>T	ENST00000507897.1	+	10	1284	c.1201C>T	c.(1201-1203)Ctt>Ttt	p.L401F	C6ORF165_ENST00000369562.4_Missense_Mutation_p.L401F			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	401										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACTAGAATGGCTTTTCCCAGA	0.353													3	22					0	0	0	0	T	88140792	C	T	88140792	3	4	56	1	0	0	0	0	1	0	0	0	2362	797	28	4	1235	4	C6orf165	6	88140792	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	4292597	88140792	82974275	42	10458											
PNLDC1	154197	broad.mit.edu	37	chr6	160225638	160225638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagaagaaaattagacacGatatcctgactgggaactgg	16	7	12	6	1	0	4	0	1	0	3	1	7	1	5	1	3	1	0	1	3	6	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:160225638G>A	ENST00000275275.5	+	6	568	c.397G>A	c.(397-399)Gat>Aat	p.D133N	PNLDC1_ENST00000392167.3_Missense_Mutation_p.D144N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	133						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AATTAGACACGATATCCTGAC	0.443													4	31					0	0	0	0	A	160225638	G	A	160225638	3	1	56	1	0	0	0	0	1	0	0	0	12220	1058	37	1	415	1	PNLDC1	6	160225638	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	72084846	160225638	10889429	43	10459											
C6orf118	168090	broad.mit.edu	37	chr6	165715502	165715502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagggcctccttcatcctCgccaccttccctgcgggcgg	3	8	11	19	3	1	0	1	0	0	0	5	0	4	0	7	3	1	0	7	3	0	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:165715502C>T	ENST00000230301.8	-	2	329	c.309G>A	c.(307-309)gcG>gcA	p.A103A	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	103										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTTCATCCTCGCCACCTTCC	0.682													50	71					0	0	0	0	T	165715502	C	T	165715502	2	4	56	1	0	0	0	0	0	0	0	1	2344	871	31	1		1	C6orf118	6	165715502	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	5489864	165715502	5399565	44	10460											
UNC93A	54346	broad.mit.edu	37	chr6	167708120	167708120	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcgagaggctgggctgcaAggggaccatcatcctctcca	9	7	12	13	1	2	1	1	0	1	1	5	3	3	2	3	4	1	3	3	4	1	0			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:167708120A>G	ENST00000230256.3	+	2	378	c.203A>G	c.(202-204)aAg>aGg	p.K68R	UNC93A_ENST00000366829.2_Missense_Mutation_p.K68R|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	68						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTGGGCTGCAAGGGGACCATC	0.647													78	151					0	0	0	0	G	167708120	A	G	167708120	3	3	56	1	0	0	0	0	1	0	0	0	17092	72	3	5	209	5	UNC93A	6	167708120	Missense_Mutation	SNP	A	TCGA-C9-A47Z-01A-11D-A24D-08	1992618	167708120	3406947	45	10461											
LFNG	3955	broad.mit.edu	37	chr7	2558231	2558235	+	Splice_Site	DEL	AGGTA	AGGTA	-																															tgcggctgacattcaggtagAggtaaggagaggggctccaa																										TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:2558231_2558235delAGGTA	ENST00000402045.1	+	2	132_133	c.45_splice	c.e2+1	p.15_splice	LFNG_ENST00000402506.1_Intron|LFNG_ENST00000338732.3_Splice_Site_p.15_splice	NM_002304.2	NP_002295.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	0					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		attcaggtagaggtaaggagaGGGG	0.512													11	42	---	---	---	---					-	2558235	AGGTA	-	2558231	8	5	56	1	0	1	0	1	0	0	1	0	8790	318	11	0	273	0	LFNG	7	2558231	Splice_Site	DEL	AGGTA	TCGA-C9-A47Z-01A-11D-A24D-08		2558231	156580432	46	10462											
HDAC9	9734	broad.mit.edu	37	chr7	18684301	18684301	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttttttaacagcaaatggTttcacagcaacgcattctaa	13	14	5	9	1	2	0	1	0	1	0	2	0	2	0	0	1	4	4	0	1	4	7			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:18684301T>A	ENST00000406451.3	+	9	1061	c.911T>A	c.(910-912)gTt>gAt	p.V304D	HDAC9_ENST00000428307.2_Missense_Mutation_p.V260D|HDAC9_ENST00000432645.2_Missense_Mutation_p.V304D|HDAC9_ENST00000405010.3_Missense_Mutation_p.V304D|HDAC9_ENST00000417496.2_Missense_Mutation_p.V302D|HDAC9_ENST00000406072.1_Missense_Mutation_p.V291D|HDAC9_ENST00000401921.1_Missense_Mutation_p.V263D|HDAC9_ENST00000456174.2_Missense_Mutation_p.V276D|HDAC9_ENST00000524023.1_Missense_Mutation_p.V227D|HDAC9_ENST00000441542.2_Missense_Mutation_p.V307D	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	304	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGCAAATGGTTTCACAGCAA	0.378													17	11					0	0	0	0	A	18684301	T	A	18684301	3	1	56	1	0	0	0	0	1	0	0	0	7064	1725	60	5	950	5	HDAC9	7	18684301	Missense_Mutation	SNP	T	TCGA-C9-A47Z-01A-11D-A24D-08	16126070	18684301	140454362	47	10463											
MAGI2	9863	broad.mit.edu	37	chr7	79082343	79082343	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgctgctctcaccttgcttGacacacttgagccggagggg	6	9	12	14	2	1	2	1	2	1	0	2	3	1	3	3	3	3	3	3	3	0	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:79082343G>A	ENST00000354212.4	-	1	547	c.294C>T	c.(292-294)gtC>gtT	p.V98V	MAGI2_ENST00000419488.1_Silent_p.V98V|MAGI2_ENST00000522391.1_Silent_p.V98V|MAGI2-AS3_ENST00000429408.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	98	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CACCTTGCTTGACACACTTGA	0.647													20	57					0	0	0	0	A	79082343	G	A	79082343	2	1	56	1	0	0	0	0	0	0	0	1	9260	1277	45	2		2	MAGI2	7	79082343	Silent	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	60398042	79082343	80056320	48	10464											
PCLO	27445	broad.mit.edu	37	chr7	82584358	82584358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccttgttagcagactgcCatctaccgatccattgtacg	8	13	8	12	2	1	1	0	0	1	1	2	2	2	1	4	0	5	3	4	0	3	6			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:82584358C>T	ENST00000423517.2	-	5	6248	c.5911G>A	c.(5911-5913)Ggc>Agc	p.G1971S	PCLO_ENST00000333891.8_Missense_Mutation_p.G1971S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1902					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCAGACTGCCATCTACCGAT	0.363													10	35					0	0	0	0	T	82584358	C	T	82584358	3	4	56	1	0	0	0	0	1	0	0	0	11654	594	21	4	9618	4	PCLO	7	82584358	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	3502015	82584358	76554305	49	10465											
CFTR	1080	broad.mit.edu	37	chr7	117232264	117232264	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcctgtctcctggacagaAacaaaaaaacaatcttttaa	16	10	5	10	0	2	1	0	0	2	1	4	2	3	2	2	1	2	1	2	1	6	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:117232264A>T	ENST00000003084.6	+	14	2175	c.2043A>T	c.(2041-2043)gaA>gaT	p.E681D	CFTR_ENST00000454343.1_Missense_Mutation_p.E620D	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	681					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CCTGGACAGAAACAAAAAAAC	0.363									Cystic Fibrosis				21	18					0	0	0	0	T	117232264	A	T	117232264	3	4	56	1	0	0	0	0	1	0	0	0	3323	11	1	5	2097	5	CFTR	7	117232264	Missense_Mutation	SNP	A	TCGA-C9-A47Z-01A-11D-A24D-08	34647906	117232264	41906399	50	10466											
AGK	55750	broad.mit.edu	37	chr7	141351366	141351366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctgcacgtggagggcaCggagtgtctccaagccagcc	9	5	14	13	2	1	0	0	0	1	0	2	2	1	2	3	3	4	3	3	3	2	0	rs142069429	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:141351366C>T	ENST00000355413.4	+	15	1348	c.1088C>T	c.(1087-1089)aCg>aTg	p.T363M	AGK_ENST00000535825.1_3'UTR|AGK_ENST00000473247.1_Missense_Mutation_p.T335M	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	363					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GTGGAGGGCACGGAGTGTCTC	0.547													6	39					0	0	0	0	T	141351366	C	T	141351366	3	4	56	1	0	0	0	0	1	0	0	0	383	536	19	1	1142	1	AGK	7	141351366	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	24119102	141351366	17787297	51	10467											
TRIB1	10221	broad.mit.edu	37	chr8	126448672	126448672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcagaccagattgttccaGagtaccaggaggacagtgac	12	8	11	10	0	1	4	1	1	0	3	2	6	2	6	3	2	1	2	3	2	1	4			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr8:126448672G>A	ENST00000311922.3	+	3	1660	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	TRIB1_ENST00000520847.1_Missense_Mutation_p.E194K|TRIB1_ENST00000519576.1_Missense_Mutation_p.E129K	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	360			E -> A (in dbSNP:rs35454769).|E -> D (in dbSNP:rs16900603).		JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GATTGTTCCAGAGTACCAGGA	0.468													9	110					0	0	0	0	A	126448672	G	A	126448672	3	1	56	1	0	0	0	0	1	0	0	0	16577	943	33	2	1088	2	TRIB1	8	126448672	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08		126448672	19915350	52	10468											
FAM135B	51059	broad.mit.edu	37	chr8	139164619	139164619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actccagagccctgcttcggGcctctgaccaggcgacggag	7	6	13	15	3	1	2	0	1	1	1	3	4	2	3	4	3	2	1	4	3	0	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr8:139164619G>A	ENST00000395297.1	-	13	2269	c.2099C>T	c.(2098-2100)gCc>gTc	p.A700V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	700										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTGCTTCGGGCCTCTGACCA	0.557										HNSCC(54;0.14)			46	41					0	0	0	0	A	139164619	G	A	139164619	3	1	56	1	0	0	0	0	1	0	0	0	5490	1203	42	4	2153	4	FAM135B	8	139164619	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	12715947	139164619	7199403	53	10469											
SCRIB	23513	broad.mit.edu	37	chr8	144874944	144874944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgcgcttaggggggccctCggcctggggcacgcgcacct	4	5	16	16	5	0	0	0	0	0	0	1	0	0	0	3	6	0	3	3	6	1	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr8:144874944C>T	ENST00000356994.2	-	30	4117	c.4111G>A	c.(4111-4113)Gag>Aag	p.E1371K	SCRIB_ENST00000377533.3_Missense_Mutation_p.E1290K|SCRIB_ENST00000546337.1_5'UTR|SCRIB_ENST00000320476.3_Missense_Mutation_p.E1371K	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1371					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGGGGCCCTCGGCCTGGGGC	0.706													7	13					0	0	0	0	T	144874944	C	T	144874944	3	4	56	1	0	0	0	0	1	0	0	0	14024	893	31	1	888	1	SCRIB	8	144874944	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	5710325	144874944	1489078	54	10470											
SMARCA2	6595	broad.mit.edu	37	chr9	2086964	2086964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaccccgctgcagaataagCtccctgaactctgggccctc	8	7	10	16	1	1	2	0	1	1	1	3	3	2	3	4	2	3	3	4	2	3	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr9:2086964C>A	ENST00000382203.1	+	18	2871	c.2662C>A	c.(2662-2664)Ctc>Atc	p.L888I	SMARCA2_ENST00000357248.2_Missense_Mutation_p.L888I|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L888I|SMARCA2_ENST00000349721.2_Missense_Mutation_p.L888I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	888	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCAGAATAAGCTCCCTGAACT	0.507													44	15					5.44703e-19	6.96272e-19	1	0	A	2086964	C	A	2086964	3	1	56	1	0	0	0	0	1	0	0	0	14857	797	28	4	2728	4	SMARCA2	9	2086964	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08		2086964	139126467	55	10471											
DFNB31	25861	broad.mit.edu	37	chr9	117266866	117266866	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcagggtgcgcaccaggtcGaagacgttgcggcgcgcgtg	6	5	18	12	8	0	1	0	0	0	1	1	2	0	1	1	3	2	3	1	3	1	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr9:117266866G>A	ENST00000362057.3	-	1	384	c.216C>T	c.(214-216)ttC>ttT	p.F72F	DFNB31_ENST00000374057.3_Silent_p.F72F	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	72					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCACCAGGTCGAAGACGTTGC	0.687													24	12					0	0	0	0	A	117266866	G	A	117266866	2	1	56	1	0	0	0	0	0	0	0	1	4492	1049	37	1		1	DFNB31	9	117266866	Silent	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	115179902	117266866	23946565	56	10472											
PGAM1	5223	broad.mit.edu	37	chr10	99192246	99192246	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agacggtgcgcaaagccatgGaagctgtggctgcccagggc	9	5	16	11	2	0	1	0	0	0	1	0	2	0	2	2	4	4	3	2	4	2	0			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr10:99192246G>C	ENST00000334828.5	+	4	878	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	244					gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		CAAAGCCATGGAAGCTGTGGC	0.587													13	32					0	0	0	0	C	99192246	G	C	99192246	3	2	56	1	0	0	0	0	1	0	0	0	11845	1175	41	2	744	2	PGAM1	10	99192246	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08		99192246	36342501	57	10473											
SEC23IP	11196	broad.mit.edu	37	chr10	121658137	121658137	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcccctgactgctctccCttttacaactggatcccaag	9	10	6	16	0	1	1	0	1	1	0	3	2	2	2	4	1	4	1	4	1	4	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr10:121658137C>G	ENST00000369075.3	+	2	434	c.362C>G	c.(361-363)cCt>cGt	p.P121R	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	121	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACTGCTCTCCCTTTTACAACT	0.473													17	61					0	0	0	0	G	121658137	C	G	121658137	3	3	56	1	0	0	0	0	1	0	0	0	14080	681	24	4	368	4	SEC23IP	10	121658137	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	22465891	121658137	13876610	58	10474											
SYT9	143425	broad.mit.edu	37	chr11	7324329	7324329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtctcgctctctttggcGtgtctctcttcgtatcttgg	1	18	11	11	3	5	0	0	0	5	0	9	0	5	0	0	3	0	2	0	3	1	4			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:7324329G>A	ENST00000318881.6	+	2	442	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	SYT9_ENST00000396716.2_Missense_Mutation_p.V37M	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	69						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCTCTTTGGCGTGTCTCTCTT	0.527													17	83					0	0	0	0	A	7324329	G	A	7324329	3	1	56	1	0	0	0	0	1	0	0	0	15572	1145	40	1	211	1	SYT9	11	7324329	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08		7324329	127682187	59	10475											
ST5	6764	broad.mit.edu	37	chr11	8752423	8752423	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctggccccgggaatggCgtgctctgggcaagggggag	5	6	20	10	2	1	0	0	0	1	0	1	2	1	2	2	6	2	4	2	6	2	0			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:8752423C>T	ENST00000534127.1	-	6	799	c.414G>A	c.(412-414)acG>acA	p.T138T	ST5_ENST00000530438.1_Intron|ST5_ENST00000526757.1_Intron|ST5_ENST00000313726.6_Silent_p.T138T|ST5_ENST00000357665.1_Silent_p.T138T	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	138					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCGGGAATGGCGTGCTCTGGG	0.677													10	87					0	0	0	0	T	8752423	C	T	8752423	2	4	56	1	0	0	0	0	0	0	0	1	15310	755	27	1		1	ST5	11	8752423	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	1428094	8752423	126254093	60	10476											
PLEKHA7	144100	broad.mit.edu	37	chr11	16812675	16812675	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctctcttggcagaggCggcacagccgggggctggtc	4	7	18	12	2	1	1	0	0	1	1	3	1	1	1	2	7	1	3	2	7	0	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:16812675C>T	ENST00000355661.3	-	20	2827	c.2817G>A	c.(2815-2817)ccG>ccA	p.P939P	PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Silent_p.P940P|PLEKHA7_ENST00000531066.1_Silent_p.P939P|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	939	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTGGCAGAGGCGGCACAGCCG	0.642													27	32					0	0	0	0	T	16812675	C	T	16812675	2	4	56	1	0	0	0	0	0	0	0	1	12133	755	27	1		1	PLEKHA7	11	16812675	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	8060252	16812675	118193841	61	10477											
KCNC1	3746	broad.mit.edu	37	chr11	17793947	17793947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcccgtgcccgtcatcGtgaacaatttcgggatgtat	8	11	10	12	4	1	1	1	1	0	0	3	2	1	2	3	1	3	1	3	1	3	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:17793947G>A	ENST00000379472.3	+	2	1336	c.1306G>A	c.(1306-1308)Gtg>Atg	p.V436M	KCNC1_ENST00000265969.6_Missense_Mutation_p.V436M	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	436						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCCCGTCATCGTGAACAATTT	0.567													42	95					0	0	0	0	A	17793947	G	A	17793947	3	1	56	1	0	0	0	0	1	0	0	0	8067	1145	40	1	1312	1	KCNC1	11	17793947	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	981272	17793947	117212569	62	10478											
OR4B1	119765	broad.mit.edu	37	chr11	48238492	48238492	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgggcaatggcctcatcgTtctgacggtcagtatcagca	8	10	13	10	2	4	1	3	1	1	0	5	1	4	1	1	4	1	4	1	4	2	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:48238492T>A	ENST00000309562.2	+	1	149	c.131T>A	c.(130-132)gTt>gAt	p.V44D		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGCCTCATCGTTCTGACGGTC	0.517													19	107					0	0	0	0	A	48238492	T	A	48238492	3	1	56	1	0	0	0	0	1	0	0	0	11115	1725	60	5	133	5	OR4B1	11	48238492	Missense_Mutation	SNP	T	TCGA-C9-A47Z-01A-11D-A24D-08	30444545	48238492	86768024	63	10479											
OR5D16	390144	broad.mit.edu	37	chr11	55606644	55606644	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctacacagttgccatctcCcagaaactctgtgccatgct	9	11	6	15	0	3	1	0	0	3	1	4	1	3	1	3	0	5	2	3	0	2	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:55606644C>G	ENST00000378396.1	+	1	417	c.417C>G	c.(415-417)tcC>tcG	p.S139S		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTGCCATCTCCCAGAAACTCT	0.458													37	50					0	0	0	0	G	55606644	C	G	55606644	2	3	56	1	0	0	0	0	0	0	0	1	11227	610	22	4		4	OR5D16	11	55606644	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	7368152	55606644	79399872	64	10480											
LPXN	9404	broad.mit.edu	37	chr11	58318551	58318551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctcaccttcccagcaatcGgtttctggcaggatgcacaa	10	10	8	13	1	2	0	1	0	2	0	5	1	3	1	2	3	2	4	2	3	2	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:58318551G>A	ENST00000528954.1	-	5	607	c.488C>T	c.(487-489)cCg>cTg	p.P163L	LPXN_ENST00000395074.2_Missense_Mutation_p.P158L|LPXN_ENST00000528489.1_Missense_Mutation_p.P138L	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	158	LIM zinc-binding 1.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCCAGCAATCGGTTTCTGGCA	0.507													14	28					0	0	0	0	A	58318551	G	A	58318551	3	1	56	1	0	0	0	0	1	0	0	0	8993	1116	39	1	707	1	LPXN	11	58318551	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	2711907	58318551	76687965	65	10481											
CDC42BPG	55561	broad.mit.edu	37	chr11	64597180	64597180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtagagtgcaaagccacCggcggcgcccacacatagcc	10	3	13	15	4	0	1	0	0	0	1	0	1	0	1	4	3	3	2	4	3	3	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:64597180C>T	ENST00000342711.5	-	30	3729	c.3730G>A	c.(3730-3732)Ggt>Agt	p.G1244S		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1244	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCAAAGCCACCGGCGGCGCCC	0.731													9	17					0	0	0	0	T	64597180	C	T	64597180	3	4	56	1	0	0	0	0	1	0	0	0	3103	652	23	1	957	1	CDC42BPG	11	64597180	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	6278629	64597180	70409336	66	10482											
FOSL1	8061	broad.mit.edu	37	chr11	65660427	65660427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctgctgctactcttgCgatgagctgaggcacaaggc	7	9	13	12	2	1	2	0	2	1	0	1	3	1	2	0	2	6	6	0	2	2	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:65660427C>G	ENST00000312562.2	-	4	932	c.746G>C	c.(745-747)cGc>cCc	p.R249P	FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000531493.1_Missense_Mutation_p.R213P|FOSL1_ENST00000448083.2_Missense_Mutation_p.R147P	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	249					cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		GCTACTCTTGCGATGAGCTGA	0.617													50	32					0	0	0	0	G	65660427	C	G	65660427	3	3	56	1	0	0	0	0	1	0	0	0	6032	768	27	3	73	3	FOSL1	11	65660427	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	1063247	65660427	69346089	67	10483											
CCDC87	55231	broad.mit.edu	37	chr11	66358941	66358941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctttatctgctgcaggctCaactaggggcccttgatcaa	8	12	10	11	0	4	1	2	1	2	0	4	1	4	1	1	3	3	3	1	3	4	4			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:66358941C>T	ENST00000333861.3	-	1	1613	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	516										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTGCAGGCTCAACTAGGGGC	0.463													38	141					0	0	0	0	T	66358941	C	T	66358941	3	4	56	1	0	0	0	0	1	0	0	0	2889	835	29	2	1007	2	CCDC87	11	66358941	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	698514	66358941	68647575	68	10484											
CTTN	2017	broad.mit.edu	37	chr11	70282397	70282397	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactttgtaggaaactcatCtccttcctgaggagccggga	9	11	10	11	1	3	1	2	1	1	0	5	4	4	4	3	3	2	1	3	3	2	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:70282397C>T	ENST00000376561.3	+	19	1959	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000301843.8_3'UTR	NM_001184740.1	NP_001171669.1	Q14247	SRC8_HUMAN	cortactin	0						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGAAACTCATCTCCTTCCTGA	0.582													11	138					0	0	0	0	T	70282397	C	T	70282397	2	4	56	1	0	0	0	0	0	0	0	1	4076	903	32	2		2	CTTN	11	70282397	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	3923456	70282397	64724119	69	10485											
SHANK2	22941	broad.mit.edu	37	chr11	70332420	70332420	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcctcttcctgcagggcGttgtccagcttagtggcgtc	3	13	12	13	3	1	0	0	0	1	0	6	0	4	0	3	2	2	3	3	2	1	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:70332420G>A	ENST00000338508.4	-	32	3980	c.3981C>T	c.(3979-3981)aaC>aaT	p.N1327N	SHANK2_ENST00000423696.2_Silent_p.N947N|SHANK2_ENST00000449833.2_Silent_p.N731N|SHANK2_ENST00000409161.1_Silent_p.N730N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	947					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTGCAGGGCGTTGTCCAGCT	0.572													12	173					0	0	0	0	A	70332420	G	A	70332420	2	1	56	1	0	0	0	0	0	0	0	1	14353	1136	40	1		1	SHANK2	11	70332420	Silent	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	50023	70332420	64674096	70	10486											
SHANK2	22941	broad.mit.edu	37	chr11	70333577	70333577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctcatcatggtggccaCggtgtcggacctggtggcgg	4	9	15	13	3	2	0	2	0	0	0	4	1	3	1	3	7	0	0	3	7	0	0	rs146332040		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:70333577C>T	ENST00000338508.4	-	32	2823	c.2824G>A	c.(2824-2826)Gtg>Atg	p.V942M	SHANK2_ENST00000423696.2_Missense_Mutation_p.V562M|SHANK2_ENST00000449833.2_Missense_Mutation_p.V346M|SHANK2_ENST00000409161.1_Missense_Mutation_p.V345M			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	562					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATGGTGGCCACGGTGTCGGAC	0.592													23	88					0	0	0	0	T	70333577	C	T	70333577	3	4	56	1	0	0	0	0	1	0	0	0	14353	536	19	1	2736	1	SHANK2	11	70333577	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	1157	70333577	64672939	71	10487											
RSF1	51773	broad.mit.edu	37	chr11	77377983	77377983	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tataactgttcactgttacaGacataatcaacaaggtcagt	15	12	6	8	0	3	1	3	0	0	1	3	1	3	1	0	1	3	2	0	1	6	5			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:77377983G>C	ENST00000308488.6	-	16	4607	c.4305C>G	c.(4303-4305)gtC>gtG	p.V1435V	RSF1_ENST00000360355.2_Silent_p.V1404V|RSF1_ENST00000480887.1_Silent_p.V1183V			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1435					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CACTGTTACAGACATAATCAA	0.443													27	106					0	0	0	0	C	77377983	G	C	77377983	2	2	56	1	0	0	0	0	0	0	0	1	13784	929	33	2		2	RSF1	11	77377983	Silent	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	7044406	77377983	57628533	72	10488											
GRM5	2915	broad.mit.edu	37	chr11	88338041	88338041	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagagggacatctgcatGttgtggagcccataggccat	9	8	15	9	0	1	1	0	0	1	1	1	3	1	3	2	4	2	3	2	4	1	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:88338041G>A	ENST00000418177.2	-	5	1606	c.1239C>T	c.(1237-1239)aaC>aaT	p.N413N	GRM5_ENST00000305432.5_Silent_p.N413N|GRM5_ENST00000455756.2_Silent_p.N413N|GRM5_ENST00000393297.1_Silent_p.N413N|GRM5_ENST00000305447.4_Silent_p.N413N			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	413					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ACATCTGCATGTTGTGGAGCC	0.463													14	36					0	0	0	0	A	88338041	G	A	88338041	2	1	56	1	0	0	0	0	0	0	0	1	6850	1368	48	4		4	GRM5	11	88338041	Silent	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	10960058	88338041	46668475	73	10489											
CACNA1C	775	broad.mit.edu	37	chr12	2719737	2719737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatacgccctcaaggccCggcccctgcggaggtacatc	8	6	12	15	3	1	0	1	0	0	0	2	2	1	2	4	5	3	1	4	5	4	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr12:2719737C>T	ENST00000399655.1	+	28	3854	c.3589C>T	c.(3589-3591)Cgg>Tgg	p.R1197W	CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1197W|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1222W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1217W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1217W|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1197W|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1197W	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1217	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCTCAAGGCCCGGCCCCTGCG	0.592													18	70					0	0	0	0	T	2719737	C	T	2719737	3	4	56	1	0	0	0	0	1	0	0	0	2565	643	23	1	3871	1	CACNA1C	12	2719737	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08		2719737	131132158	74	10490											
ARID2	196528	broad.mit.edu	37	chr12	46230632	46230632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagattgcagtgattttgaGaaatctttcctttgaggagg	10	15	11	5	0	2	4	1	3	1	2	3	6	3	5	1	2	1	1	1	2	1	5			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr12:46230632G>T	ENST00000334344.6	+	8	1053	c.881G>T	c.(880-882)aGa>aTa	p.R294I	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.R145I	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	294					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTGATTTTGAGAAATCTTTCC	0.403			"N, S, F"		hepatocellular carcinoma								24	44					3.7963e-18	4.81083e-18	1	0	T	46230632	G	T	46230632	3	4	56	1	0	0	0	0	1	0	0	0	917	942	33	2	911	2	ARID2	12	46230632	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	43510895	46230632	87621263	75	10491											
B4GALNT1	2583	broad.mit.edu	37	chr12	58021632	58021632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggagatctcgcgcaccgCgccccccacctgcagggaga	7	3	13	18	5	1	2	0	0	1	2	2	4	1	2	6	2	1	2	6	2	0	0			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr12:58021632C>T	ENST00000341156.4	-	10	1737	c.1153G>A	c.(1153-1155)Gcg>Acg	p.A385T	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.A330T	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	385					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCGCGCACCGCGCCCCCCACC	0.716													5	8					0	0	0	0	T	58021632	C	T	58021632	3	4	56	1	0	0	0	0	1	0	0	0	1270	768	27	1	456	1	B4GALNT1	12	58021632	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	11791000	58021632	75830263	76	10492											
ACACB	32	broad.mit.edu	37	chr12	109673453	109673453	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattcagagcaagagatgagGtatggccaaaagtaatgatg	16	8	12	5	0	1	4	1	2	0	2	1	5	1	4	1	2	1	3	1	2	5	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr12:109673453G>C	ENST00000338432.7	+	33	4565		c.e33+1		ACACB_ENST00000377848.3_Splice_Site|ACACB_ENST00000543201.1_Splice_Site|ACACB_ENST00000377854.5_Splice_Site			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta						acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AAGAGATGAGGTATGGCCAAA	0.398													3	11					0	0	0	0	C	109673453	G	C	109673453	5	2	56	1	0	0	0	0	0	0	1	0	107	1275	44	4	4573	4	ACACB	12	109673453	Splice_Site	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	51651821	109673453	24178442	77	10493											
MYCBP2	23077	broad.mit.edu	37	chr13	77661767	77661767	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacagaagccagttgaaaGcctgaagaaatgacggttaa	17	7	10	7	1	0	5	0	3	0	2	0	5	0	5	2	1	3	2	2	1	6	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr13:77661767G>A	ENST00000407578.2	-	62	10993	c.10725_splice	c.e62-1	p.A3576_splice	MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000357337.6_Splice_Site_p.A3538_splice|MYCBP2_ENST00000544440.2_Splice_Site_p.A3538_splice|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAGTTGAAAGCCTGAAGAAA	0.388													5	19					0	0	0	0	A	77661767	G	A	77661767	5	1	56	1	0	0	0	0	0	0	1	0	10088	985	34	4	3397	4	MYCBP2	13	77661767	Splice_Site	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08		77661767	37508111	78	10494											
OR4K1	79544	broad.mit.edu	37	chr14	20404665	20404665	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctacactgtttgtactccCttgttgaaccccatcatcta	8	16	4	13	0	3	1	1	1	2	0	4	1	4	1	3	0	3	3	3	0	4	7			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr14:20404665C>A	ENST00000285600.4	+	1	899	c.840C>A	c.(838-840)ccC>ccA	p.P280P		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P280P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTGTACTCCCTTGTTGAACC	0.413													5	71					0.000602214	0.000641489	1	0	A	20404665	C	A	20404665	2	1	56	1	0	0	0	0	0	0	0	1	11138	668	24	4		4	OR4K1	14	20404665	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08		20404665	86944875	79	10495											
OR4N5	390437	broad.mit.edu	37	chr14	20612591	20612591	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggagcactcctctgaaggaAagagcaaggctatttccaca	13	7	11	10	0	1	2	0	1	1	1	3	4	3	4	2	3	2	3	2	3	4	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr14:20612591A>T	ENST00000333629.1	+	1	697	c.697A>T	c.(697-699)Aag>Tag	p.K233*		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTCTGAAGGAAAGAGCAAGGC	0.502													48	85					0	0	0	0	T	20612591	A	T	20612591	4	4	56	1	0	0	0	0	0	1	0	0	11150	15	1	5	699	5	OR4N5	14	20612591	Nonsense_Mutation	SNP	A	TCGA-C9-A47Z-01A-11D-A24D-08	207926	20612591	86736949	80	10496											
SERPINA4	5267	broad.mit.edu	37	chr14	95034592	95034592	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgggctgacttatccggCatcaccaaacagcaaaaact	15	7	8	11	1	1	1	1	1	0	0	2	1	2	1	2	2	3	3	2	2	5	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr14:95034592C>T	ENST00000557004.1	+	4	1471	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.G350G|SERPINA4_ENST00000555095.1_Silent_p.G350G			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	350					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACTTATCCGGCATCACCAAAC	0.512													14	54					0	0	0	0	T	95034592	C	T	95034592	2	4	56	1	0	0	0	0	0	0	0	1	14178	697	25	4		4	SERPINA4	14	95034592	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	74422001	95034592	12314948	81	10497											
HERC1	8925	broad.mit.edu	37	chr15	63948379	63948379	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaataggccaggcaagagaTaggcttgttagccttgctat	12	10	11	8	0	0	1	0	0	0	1	0	2	0	1	2	3	2	4	2	3	6	6			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr15:63948379T>C	ENST00000443617.2	-	49	9865	c.9778A>G	c.(9778-9780)Atc>Gtc	p.I3260V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3260					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGGCAAGAGATAGGCTTGTTA	0.542													4	9					0	0	0	0	C	63948379	T	C	63948379	3	2	56	1	0	0	0	0	1	0	0	0	7107	1406	49	5	4927	5	HERC1	15	63948379	Missense_Mutation	SNP	T	TCGA-C9-A47Z-01A-11D-A24D-08		63948379	38583013	82	10498											
IQCH	64799	broad.mit.edu	37	chr15	67768123	67768123	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactatgtttttctccagatCtgtagggcccatggcattgg	7	14	10	10	0	2	1	0	0	2	1	3	1	2	1	2	3	0	3	2	3	2	5			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr15:67768123C>A	ENST00000335894.4	+	18	2832	c.2766C>A	c.(2764-2766)atC>atA	p.I922I	IQCH_ENST00000358767.3_Silent_p.I658I|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Silent_p.I579I|IQCH_ENST00000360277.4_Silent_p.I583I	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	922										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTCTCCAGATCTGTAGGGCCC	0.502													9	42					1.76689e-08	2.06138e-08	1	0	A	67768123	C	A	67768123	2	1	56	1	0	0	0	0	0	0	0	1	7864	903	32	2		2	IQCH	15	67768123	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	3819744	67768123	34763269	83	10499											
KIAA1024	23251	broad.mit.edu	37	chr15	79760681	79760681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgctgcggcatgcacCgtcatcctcgttattgtcgt	5	13	10	13	5	1	0	1	0	0	0	5	0	2	0	2	1	3	5	2	1	1	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr15:79760681C>T	ENST00000305428.3	+	4	2781	c.2706C>T	c.(2704-2706)acC>acT	p.T902T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	902						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CGGCATGCACCGTCATCCTCG	0.463													13	22					0	0	0	0	T	79760681	C	T	79760681	2	4	56	1	0	0	0	0	0	0	0	1	8256	639	23	1		1	KIAA1024	15	79760681	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	11992558	79760681	22770711	84	10500											
ABCC1	4363	broad.mit.edu	37	chr16	16205396	16205396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacgggactcaggagcacacGaaagtccggctgagcgtcta	12	5	13	11	4	2	1	1	1	1	0	3	4	3	3	1	3	3	2	1	3	3	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:16205396G>A	ENST00000399408.2	+	23	3241	c.3066G>A	c.(3064-3066)acG>acA	p.T1022T	ABCC1_ENST00000399410.3_Silent_p.T1012T|ABCC1_ENST00000345148.5_Silent_p.T1012T|ABCC1_ENST00000349029.5_Silent_p.T897T|ABCC1_ENST00000351154.5_Silent_p.T953T|ABCC1_ENST00000346370.5_Silent_p.T956T			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1012	ABC transmembrane type-1 2.				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)	AGGAGCACACGAAAGTCCGGC	0.567													24	39					0	0	0	0	A	16205396	G	A	16205396	2	1	56	1	0	0	0	0	0	0	0	1	49	1045	37	1		1	ABCC1	16	16205396	Silent	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08		16205396	74149357	85	10501											
ATP2A1	487	broad.mit.edu	37	chr16	28909674	28909674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggagtggggcactggcCgggacaccctgcgctgcttg	6	7	16	12	2	1	0	1	0	0	0	1	2	1	2	2	5	2	3	2	5	1	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:28909674C>T	ENST00000395503.4	+	14	1850	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	ATP2A1_ENST00000536376.1_Missense_Mutation_p.R431W|ATP2A1_ENST00000357084.3_Missense_Mutation_p.R556W	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	556					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGGCACTGGCCGGGACACCCT	0.637													20	80					0	0	0	0	T	28909674	C	T	28909674	3	4	56	1	0	0	0	0	1	0	0	0	1140	643	23	1	1720	1	ATP2A1	16	28909674	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	12704278	28909674	61445079	86	10502											
MT3	4504	broad.mit.edu	37	chr16	56623531	56623531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagacctgcccctgcccttCtggtgagcccccgcccccgc	3	7	10	21	2	1	2	0	2	1	1	1	3	1	2	8	1	3	0	8	1	0	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:56623531C>T	ENST00000570176.1	+	1	80	c.29C>T	c.(28-30)tCt>tTt	p.S10F	MT3_ENST00000561640.1_Missense_Mutation_p.S55F|MT3_ENST00000565838.1_Intron|MT3_ENST00000566576.1_3'UTR|MT3_ENST00000200691.4_Missense_Mutation_p.S10F			P25713	MT3_HUMAN	metallothionein 3	10	Beta.				cell proliferation|cellular metal ion homeostasis|removal of superoxide radicals|response to hypoxia	synaptic vesicle	antioxidant activity|copper ion binding|zinc ion binding			central_nervous_system(1)|large_intestine(1)	2						CCCTGCCCTTCTGGTGAGCCC	0.662													18	59					0	0	0	0	T	56623531	C	T	56623531	3	4	56	1	0	0	0	0	1	0	0	0	9976	913	32	2	31	2	MT3	16	56623531	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	27713857	56623531	33731222	87	10503											
RLTPR	146206	broad.mit.edu	37	chr16	67683844	67683844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcgcagcgcagccgcccGgaactgacagcacgtgcagt	9	3	14	15	5	0	1	0	1	0	0	0	2	0	2	2	2	5	4	2	2	1	0			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:67683844G>A	ENST00000334583.6	+	21	2383	c.2055G>A	c.(2053-2055)ccG>ccA	p.P685P	RLTPR_ENST00000545661.1_Silent_p.P649P	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	685										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCAGCCGCCCGGAACTGACAG	0.647													12	50					0	0	0	0	A	67683844	G	A	67683844	2	1	56	1	0	0	0	0	0	0	0	1	13479	1103	39	1		1	RLTPR	16	67683844	Silent	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	11060313	67683844	22670909	88	10504											
PLCG2	5336	broad.mit.edu	37	chr16	81927367	81927367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccccagaagcttacatccGctgcctgcgcatgggctgtc	6	9	11	15	2	0	1	0	0	0	1	3	1	2	1	4	1	4	4	4	1	2	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:81927367G>A	ENST00000359376.3	+	12	1254	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	347	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCTTACATCCGCTGCCTGCGC	0.587													10	70					0	0	0	0	A	81927367	G	A	81927367	3	1	56	1	0	0	0	0	1	0	0	0	12108	1087	38	1	1082	1	PLCG2	16	81927367	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	14243523	81927367	8427386	89	10505											
ATP2C2	9914	broad.mit.edu	37	chr16	84488474	84488474	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgactggggatggggtgaaCgacgcagtggccctgaagtc	9	7	17	8	2	0	3	0	3	0	0	1	5	0	4	1	5	1	1	1	5	2	0			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:84488474C>T	ENST00000416219.2	+	21	2120	c.2031C>T	c.(2029-2031)aaC>aaT	p.N677N	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.N677N			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	677					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ATGGGGTGAACGACGCAGTGG	0.607													5	48					0	0	0	0	T	84488474	C	T	84488474	2	4	56	1	0	0	0	0	0	0	0	1	1148	535	19	1		1	ATP2C2	16	84488474	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	2561107	84488474	5866279	90	10506											
TP53	7157	broad.mit.edu	37	chr17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttccttccactcggAtaagatgctgaggaggggcc	10	9	12	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	2	3	4	2	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr17:7578265A>G	ENST00000420246.2	-	6	716	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000269305.4_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCACTCGGATAAGATGCTG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	32					0	0	0	0	G	7578265	A	G	7578265	3	3	56	1	0	0	0	0	1	0	0	0	16476	333	12	5	710	5	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-C9-A47Z-01A-11D-A24D-08		7578265	73616945	91	10507											
TP53	7157	broad.mit.edu	37	chr17	7579379	7579380	+	Frame_Shift_Ins	INS	-	-	A																															gaaaccgtagctgccctggtINSaggttttctgggaagggaca																										TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr17:7579379_7579380insA	ENST00000420246.2	-	4	439_440	c.307_308insT	c.(307-309)ccafs	p.P103fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.P103fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P103fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P103fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P103fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P103fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	103	Interaction with HIPK1 (By similarity).|Interaction with WWOX.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Y103fs*19(3)|p.K101_Y103>N(3)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCTGCCCTGGTAGGTTTTCTGG	0.634		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			42	69	---	---	---	---					A	7579380	-	A	7579379	7	5	56	1	0	1	1	0	0	0	0	0	16476	1638	57	0	994	0	TP53	17	7579379	Frame_Shift_Ins	INS	-	TCGA-C9-A47Z-01A-11D-A24D-08	1114	7579379	73615831	92	10508											
MYH3	4621	broad.mit.edu	37	chr17	10541586	10541586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaggaactccgcctccCgcttcttgttgagctctatc	5	13	8	15	2	3	1	1	1	2	0	6	2	5	2	3	1	2	4	3	1	2	5			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr17:10541586C>T	ENST00000583535.1	-	27	3590	c.3503G>A	c.(3502-3504)cGg>cAg	p.R1168Q	MYH3_ENST00000226209.7_Missense_Mutation_p.R1168Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1168					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCCGCCTCCCGCTTCTTGTT	0.642													25	49					0	0	0	0	T	10541586	C	T	10541586	3	4	56	1	0	0	0	0	1	0	0	0	10106	652	23	1	2379	1	MYH3	17	10541586	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	2962207	10541586	70653624	93	10509											
MFAP4	4239	broad.mit.edu	37	chr17	19289768	19289768	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggttgctgaaggcaaaacCtctccagagctgggggtagg	9	7	17	8	0	1	2	0	1	1	1	2	2	1	2	2	6	3	5	2	6	4	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr17:19289768C>G	ENST00000395592.2	-	3	238	c.167G>C	c.(166-168)aGg>aCg	p.R56T	MFAP4_ENST00000299610.4_Missense_Mutation_p.R32T|MFAP4_ENST00000497081.2_Missense_Mutation_p.R57T	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	32	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGGCAAAACCTCTCCAGAGC	0.607													11	9					0	0	0	0	G	19289768	C	G	19289768	3	3	56	1	0	0	0	0	1	0	0	0	9586	681	24	4	688	4	MFAP4	17	19289768	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	8748182	19289768	61905442	94	10510											
RTTN	25914	broad.mit.edu	37	chr18	67673621	67673621	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttttaaaactgaccttcTgataattgtaaatcagagcc	14	14	6	7	0	2	3	1	2	1	1	2	4	2	3	2	0	2	1	2	0	5	7			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr18:67673621T>C	ENST00000255674.6	-	47	6807	c.6521A>G	c.(6520-6522)cAg>cGg	p.Q2174R	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2174							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACTGACCTTCTGATAATTGTA	0.408													10	27					0	0	0	0	C	67673621	T	C	67673621	3	2	56	1	0	0	0	0	1	0	0	0	13822	1580	55	5	171	5	RTTN	18	67673621	Missense_Mutation	SNP	T	TCGA-C9-A47Z-01A-11D-A24D-08		67673621	10403627	95	10511											
MAP2K2	5605	broad.mit.edu	37	chr19	4102431	4102431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggcctctttcagcacCtggtccagggagccgccgtc	4	10	11	16	2	3	0	1	0	2	0	5	1	4	1	5	3	2	1	5	3	0	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:4102431C>A	ENST00000262948.5	-	4	724	c.471G>T	c.(469-471)caG>caT	p.Q157H	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Missense_Mutation_p.Q60H	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	157	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTCAGCACCTGGTCCAGGG	0.667													4	8					0.150653	0.151685	1	0	A	4102431	C	A	4102431	3	1	56	1	0	0	0	0	1	0	0	0	9306	680	24	4	763	4	MAP2K2	19	4102431	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08		4102431	55026552	96	10512											
HDGFRP2	84717	broad.mit.edu	37	chr19	4493799	4493801	+	In_Frame_Del	DEL	TCC	TCC	-																															cggcgtcctcctcctcctctTcctcctcctcctccgactcc																										TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:4493799_4493801delTCC	ENST00000301284.4	+	7	842_844	c.778_780delTCC	c.(778-780)del	p.S264del	HDGFRP2_ENST00000586684.1_In_Frame_Del_p.S264del	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		264	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										ctcctcctcttcctcctcctcct	0.675													2	4	---	---	---	---					-	4493801	TCC	-	4493799	7	5	56	1	0	1	0	1	0	0	0	0	7070	1783	62	0	804	0	HDGFRP2	19	4493799	In_Frame_Del	DEL	TCC	TCGA-C9-A47Z-01A-11D-A24D-08	391368	4493799	54635184	97	10513											
TSHZ3	57616	broad.mit.edu	37	chr19	31770591	31770591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagggctctccatctgcCgtatgctcctctgggtctaa	5	11	11	14	2	4	0	0	0	4	0	6	1	5	0	4	2	2	3	4	2	2	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:31770591C>T	ENST00000240587.4	-	2	435	c.108G>A	c.(106-108)acG>acA	p.T36T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	36					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTCCATCTGCCGTATGCTCCT	0.597													21	18					0	0	0	0	T	31770591	C	T	31770591	2	4	56	1	0	0	0	0	0	0	0	1	16720	639	23	1		1	TSHZ3	19	31770591	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	27276792	31770591	27358392	98	10514											
LSR	51599	broad.mit.edu	37	chr19	35741544	35741544	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattactaccagggccggAggattaccatcaccggaagt	12	7	12	10	2	1	1	1	0	0	1	1	5	1	4	4	4	3	0	4	4	4	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:35741544A>T	ENST00000602122.1	+	2	1067	c.580A>T	c.(580-582)Agg>Tgg	p.R194W	LSR_ENST00000361790.3_Missense_Mutation_p.R194W|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000347609.4_Missense_Mutation_p.R157W|LSR_ENST00000427250.1_Missense_Mutation_p.R146W|LSR_ENST00000354900.3_Missense_Mutation_p.R194W|LSR_ENST00000360798.3_Missense_Mutation_p.R194W			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	194	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCAGGGCCGGAGGATTACCAT	0.652													4	29					0	0	0	0	T	35741544	A	T	35741544	3	4	56	1	0	0	0	0	1	0	0	0	9128	295	11	5	586	5	LSR	19	35741544	Missense_Mutation	SNP	A	TCGA-C9-A47Z-01A-11D-A24D-08	3970953	35741544	23387439	99	10515											
CAPN12	147968	broad.mit.edu	37	chr19	39233740	39233742	+	Splice_Site	DEL	CTC	CTC	-																															aacttcggctcagcacagaaCtcctgtgggtggtgggggat																										TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:39233740_39233742delCTC	ENST00000328867.4	-	2	546_548	c.237_splice	c.e2-1	p.E80_splice	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	80	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAGCACAGAACTCCTGTGGGTGG	0.591													11	37	---	---	---	---					-	39233742	CTC	-	39233740	8	5	56	1	0	1	0	1	0	0	1	0	2650	564	20	0	1999	0	CAPN12	19	39233740	Splice_Site	DEL	CTC	TCGA-C9-A47Z-01A-11D-A24D-08	3492196	39233740	19895243	100	10516											
PPFIA3	8541	broad.mit.edu	37	chr19	49631231	49631231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagcgcctcatggtcaCgatgctcacggagcgcgagc	7	6	15	13	5	3	0	3	0	0	0	3	4	3	2	1	3	4	2	1	3	0	0			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:49631231C>T	ENST00000334186.4	+	2	450	c.101C>T	c.(100-102)aCg>aTg	p.T34M	PPFIA3_ENST00000602351.1_Missense_Mutation_p.T34M	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	34						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTCATGGTCACGATGCTCACG	0.716													11	14					0	0	0	0	T	49631231	C	T	49631231	3	4	56	1	0	0	0	0	1	0	0	0	12382	536	19	1	103	1	PPFIA3	19	49631231	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	10397491	49631231	9497752	101	10517											
CPT1C	126129	broad.mit.edu	37	chr19	50208484	50208484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgcagactttgctgatggGaatgcgccccttatgctctg	6	12	11	12	1	1	2	0	1	1	1	1	3	1	3	3	1	4	3	3	1	2	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:50208484G>A	ENST00000392518.4	+	10	1265	c.893G>A	c.(892-894)gGa>gAa	p.G298E	CPT1C_ENST00000405931.2_Missense_Mutation_p.G287E|CPT1C_ENST00000354199.5_Missense_Mutation_p.G298E|CPT1C_ENST00000598293.1_Missense_Mutation_p.G298E|CPT1C_ENST00000323446.5_Missense_Mutation_p.G298E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	298					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTGCTGATGGGAATGCGCCCC	0.587													33	88					0	0	0	0	A	50208484	G	A	50208484	3	1	56	1	0	0	0	0	1	0	0	0	3863	1174	41	2	923	2	CPT1C	19	50208484	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	577253	50208484	8920499	102	10518											
NLRP5	126206	broad.mit.edu	37	chr19	56552435	56552435	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcgatccatgaggcttccCcactgtagtctgcagaggct	7	11	11	12	1	1	2	0	1	1	1	4	3	3	2	3	2	1	4	3	2	1	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:56552435C>A	ENST00000390649.3	+	11	2934	c.2934C>A	c.(2932-2934)ccC>ccA	p.P978P		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	978						mitochondrion|nucleolus	ATP binding	p.P978P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGGCTTCCCCACTGTAGTC	0.532													25	99					0.00047179	0.000509949	1	0	A	56552435	C	A	56552435	2	1	56	1	0	0	0	0	0	0	0	1	10550	610	22	4		4	NLRP5	19	56552435	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	6343951	56552435	2576548	103	10519											
PLCB1	23236	broad.mit.edu	37	chr20	8769136	8769136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcgcagaagagtgtcagaAcaatcagttaaagaagctca	16	8	10	7	1	3	4	3	0	0	4	4	4	3	4	0	0	2	3	0	0	6	1			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr20:8769136A>T	ENST00000378641.3	+	28	3627	c.3152A>T	c.(3151-3153)aAc>aTc	p.N1051I	PLCB1_ENST00000378637.2_Missense_Mutation_p.N1051I|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.N1051I	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1051					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAGTGTCAGAACAATCAGTTA	0.373													5	10					0	0	0	0	T	8769136	A	T	8769136	3	4	56	1	0	0	0	0	1	0	0	0	12099	43	2	5	3262	5	PLCB1	20	8769136	Missense_Mutation	SNP	A	TCGA-C9-A47Z-01A-11D-A24D-08		8769136	54256384	104	10520											
CST1	1469	broad.mit.edu	37	chr20	23731298	23731298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcctggctcttagtaccCgcagcggacgtctgtagtag	6	11	13	11	3	2	0	0	0	2	0	2	1	2	1	2	2	3	6	2	2	4	5	rs3188305		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr20:23731298C>T	ENST00000304749.2	-	1	276	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	CST1_ENST00000398402.1_Missense_Mutation_p.R69Q	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	69						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TCTTAGTACCCGCAGCGGACG	0.572													26	35					0	0	0	0	T	23731298	C	T	23731298	3	4	56	1	0	0	0	0	1	0	0	0	4002	652	23	1	231	1	CST1	20	23731298	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	14962162	23731298	39294222	105	10521											
CTCFL	140690	broad.mit.edu	37	chr20	56078540	56078540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcgcagcttccttctgacCctttgtggcttccttcagga	4	15	8	14	1	2	1	1	1	1	0	5	2	4	2	3	2	1	3	3	2	0	6			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr20:56078540C>A	ENST00000429804.2	-	9	2202	c.1642G>T	c.(1642-1644)Ggt>Tgt	p.G548C	CTCFL_ENST00000502686.2_Missense_Mutation_p.G336C|CTCFL_ENST00000243914.3_Missense_Mutation_p.G598C|CTCFL_ENST00000433949.2_Missense_Mutation_p.G598C|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000371196.2_Missense_Mutation_p.G598C|CTCFL_ENST00000423479.2_Missense_Mutation_p.G598C|CTCFL_ENST00000422109.2_3'UTR	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	598					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCCTTCTGACCCTTTGTGGCT	0.498													11	117					1.58986e-06	1.79777e-06	1	0	A	56078540	C	A	56078540	3	1	56	1	0	0	0	0	1	0	0	0	4033	623	22	4	207	4	CTCFL	20	56078540	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	32347242	56078540	6946980	106	10522											
HIRA	7290	broad.mit.edu	37	chr22	19349267	19349267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggacagacagagacaCaggcatgagacgagagtcct	14	4	12	11	1	0	4	0	1	0	4	1	8	1	5	2	2	0	1	2	2	0	0			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr22:19349267C>A	ENST00000263208.5	-	16	2219	c.1963G>T	c.(1963-1965)Gtg>Ttg	p.V655L	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Missense_Mutation_p.V611L|HIRA_ENST00000546308.1_Missense_Mutation_p.V611L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	655	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GACAGAGACACAGGCATGAGA	0.532													46	81					1.00953e-15	1.25763e-15	1	0	A	19349267	C	A	19349267	3	1	56	1	0	0	0	0	1	0	0	0	7170	478	17	4	1130	4	HIRA	22	19349267	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08		19349267	31955299	107	10523											
SLC5A1	6523	broad.mit.edu	37	chr22	32481007	32481007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgccaggaatgatcagcCgcattctgtacacaggtaat	12	10	10	9	1	2	2	1	2	1	0	2	3	2	3	2	2	3	3	2	2	3	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr22:32481007C>T	ENST00000266088.4	+	9	1256	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	SLC5A1_ENST00000543737.1_Missense_Mutation_p.R209C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	336					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AATGATCAGCCGCATTCTGTA	0.483													17	89					0	0	0	0	T	32481007	C	T	32481007	3	4	56	1	0	0	0	0	1	0	0	0	14749	652	23	1	1040	1	SLC5A1	22	32481007	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	13131740	32481007	18823559	108	10524											
CARD10	29775	broad.mit.edu	37	chr22	37891791	37891791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataattgggcacggtgcccCggtccaggtcccgcagagtg	7	7	15	12	3	0	1	0	0	0	1	2	2	2	1	4	4	1	2	4	4	1	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr22:37891791C>A	ENST00000403299.1	-	15	2495	c.2279G>T	c.(2278-2280)cGg>cTg	p.R760L	CARD10_ENST00000406271.3_Missense_Mutation_p.R474L|CARD10_ENST00000251973.5_Missense_Mutation_p.R760L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	760					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CACGGTGCCCCGGTCCAGGTC	0.642													16	23					8.60227e-14	1.04507e-13	1	0	A	37891791	C	A	37891791	3	1	56	1	0	0	0	0	1	0	0	0	2669	652	23	3	847	3	CARD10	22	37891791	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	5410784	37891791	13412775	109	10525											
GK	2710	broad.mit.edu	37	chrX	30739058	30739058	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtatggagtctcgaacccGaggatttgtctgccgtcacg	7	10	13	11	5	3	0	1	0	2	0	4	4	3	2	2	2	2	1	2	2	2	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:30739058G>T	ENST00000378943.3	+	17	1608	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	GK_ENST00000378946.3_Nonsense_Mutation_p.E483*|GK_ENST00000378945.3_Nonsense_Mutation_p.E477*|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000427190.1_Nonsense_Mutation_p.E278*|GK-AS1_ENST00000464659.1_RNA	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	483					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						TCTCGAACCCGAGGATTTGTC	0.522													10	47					0.000442599	0.000481942	1	0	T	30739058	G	T	30739058	4	4	56	1	0	0	0	0	0	1	0	0	6471	1059	37	3	1517	3	GK	23	30739058	Nonsense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08		30739058	124531502	110	10526											
HDAC6	10013	broad.mit.edu	37	chrX	48683003	48683003	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaacaagtttggggaggAtatgccccacccacactaag	13	6	10	12	0	0	1	0	0	0	1	0	3	0	3	4	3	2	1	4	3	4	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:48683003A>T	ENST00000334136.5	+	29	3807	c.3629A>T	c.(3628-3630)gAt>gTt	p.D1210V	HDAC6_ENST00000444343.2_Missense_Mutation_p.D1224V|HDAC6_ENST00000376619.2_Missense_Mutation_p.D1210V			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1210					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TTTGGGGAGGATATGCCCCAC	0.547													7	28					0	0	0	0	T	48683003	A	T	48683003	3	4	56	1	0	0	0	0	1	0	0	0	7061	333	12	5	3739	5	HDAC6	23	48683003	Missense_Mutation	SNP	A	TCGA-C9-A47Z-01A-11D-A24D-08	17943945	48683003	106587557	111	10527											
TBX22	50945	broad.mit.edu	37	chrX	79279642	79279642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccatcgatgtggtgcCggtggattccaaacgctata	8	11	13	9	3	0	0	0	0	0	0	2	2	1	1	3	4	2	1	3	4	3	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:79279642C>T	ENST00000442340.1	+	4	567	c.77C>T	c.(76-78)cCg>cTg	p.P26L	TBX22_ENST00000373294.5_Missense_Mutation_p.P146L|TBX22_ENST00000373296.3_Missense_Mutation_p.P146L|TBX22_ENST00000373291.1_Missense_Mutation_p.P26L	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	146					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GATGTGGTGCCGGTGGATTCC	0.527													11	64					0	0	0	0	T	79279642	C	T	79279642	3	4	56	1	0	0	0	0	1	0	0	0	15752	652	23	1	447	1	TBX22	23	79279642	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	30596639	79279642	75990918	112	10528											
RPA4	29935	broad.mit.edu	37	chrX	96139780	96139780	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaacgagttcaccgtgcaTattctggaaacggtcaatgc	12	10	10	9	3	3	1	2	1	1	0	3	3	3	2	1	2	4	2	1	2	4	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:96139780T>A	ENST00000373040.3	+	1	874	c.471T>A	c.(469-471)caT>caA	p.H157Q	DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000355827.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	157					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TCACCGTGCATATTCTGGAAA	0.453								Other identified genes with known or suspected DNA repair function					18	79					0	0	0	0	A	96139780	T	A	96139780	3	1	56	1	0	0	0	0	1	0	0	0	13624	1403	49	5	473	5	RPA4	23	96139780	Missense_Mutation	SNP	T	TCGA-C9-A47Z-01A-11D-A24D-08	16860138	96139780	59130780	113	10529			1	16		2	2	16	N	T_C	5.669045e-05
RPA4	29935	broad.mit.edu	37	chrX	96139795	96139795	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatattctggaaacggtCaatgcacacatgatgctgga	12	10	11	8	1	2	1	1	1	1	0	2	3	2	3	0	3	4	3	0	3	3	2			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:96139795C>A	ENST00000373040.3	+	1	889	c.486C>A	c.(484-486)gtC>gtA	p.V162V	DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000355827.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	162					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TGGAAACGGTCAATGCACACA	0.463								Other identified genes with known or suspected DNA repair function					17	78					8.60227e-14	1.04507e-13	1	0	A	96139795	C	A	96139795	2	1	56	1	0	0	0	0	0	0	0	1	13624	813	29	2		2	RPA4	23	96139795	Silent	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	15	96139795	59130765	114	10530			1	16		2	2	16	N	T_C	5.669045e-05
SYTL4	94121	broad.mit.edu	37	chrX	99942202	99942202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaagatgttcccgaaatcaCcagcttcactgtagatgctc	12	10	7	12	1	2	2	2	0	0	2	4	3	3	2	2	0	2	4	2	0	3	3			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:99942202C>A	ENST00000455616.1	-	12	1392	c.1046G>T	c.(1045-1047)gGt>gTt	p.G349V	SYTL4_ENST00000276141.6_Missense_Mutation_p.G349V|SYTL4_ENST00000263033.5_Missense_Mutation_p.G349V|SYTL4_ENST00000454200.2_Missense_Mutation_p.G351V|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000372989.1_Missense_Mutation_p.G349V			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	349					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCGAAATCACCAGCTTCACT	0.522													10	58					1.58986e-06	1.79777e-06	1	0	A	99942202	C	A	99942202	3	1	56	1	0	0	0	0	1	0	0	0	15576	507	18	4	997	4	SYTL4	23	99942202	Missense_Mutation	SNP	C	TCGA-C9-A47Z-01A-11D-A24D-08	3802407	99942202	55328358	115	10531											
AFF2	2334	broad.mit.edu	37	chrX	147582653	147582653	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttcagagactgggacttGgagcagcagtggtaggtgtt	8	13	15	5	0	1	1	1	0	0	1	1	4	1	3	0	4	2	4	0	4	1	5			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:147582653G>C	ENST00000370460.2	+	1	515	c.36G>C	c.(34-36)ttG>ttC	p.L12F	AFF2_ENST00000370458.1_Missense_Mutation_p.L12F|AFF2_ENST00000342251.3_Missense_Mutation_p.L12F|AFF2_ENST00000370457.5_Missense_Mutation_p.L12F	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	12					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGGGACTTGGAGCAGCAGT	0.592													6	41					0	0	0	0	C	147582653	G	C	147582653	3	2	56	1	0	0	0	0	1	0	0	0	357	1339	47	4	38	4	AFF2	23	147582653	Missense_Mutation	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	47640451	147582653	7687907	116	10532											
GABRA3	2556	broad.mit.edu	37	chrX	151393236	151393236	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagagagaaaatacatacaGcttccaaacttcagtgggca	17	7	9	8	0	1	2	1	0	0	2	2	4	2	2	1	1	4	2	1	1	5	4			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:151393236G>T	ENST00000370314.4	-	6	871	c.634_splice	c.e6+1	p.S211_splice	GABRA3_ENST00000370311.1_Splice_Site_p.S211_splice|GABRA3_ENST00000535043.1_Splice_Site_p.S211_splice	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	211					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AATACATACAGCTTCCAAACT	0.383													6	47					0.0215528	0.0221556	1	0	T	151393236	G	T	151393236	5	4	56	1	0	0	0	0	0	0	1	0	6210	985	34	4	865	4	GABRA3	23	151393236	Splice_Site	SNP	G	TCGA-C9-A47Z-01A-11D-A24D-08	3810583	151393236	3877324	117	10533											
SYCP1	6847	broad.mit.edu	37	chr1	115398176	115398176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacctcagaccctgggaggcGattccactttcttcaaggta	10	10	9	12	1	3	1	2	0	1	1	4	3	4	2	3	3	1	1	3	3	3	4			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr1:115398176G>A	ENST00000369522.3	+	2	331	c.91G>A	c.(91-93)Gat>Aat	p.D31N	SYCP1_ENST00000369518.1_Missense_Mutation_p.D31N	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	31	Asp/Glu-rich (acidic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		CCTGGGAGGCGATTCCACTTT	0.433													12	37					0	0	0	0	A	115398176	G	A	115398176	3	1	57	1	0	0	0	0	1	0	0	0	15522	1058	37	1	93	1	SYCP1	1	115398176	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08		115398176	133852445	1	10534											
BCAN	63827	broad.mit.edu	37	chr1	156622478	156622478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagctatctggggtccctcGaggagagagcgaggagacag	10	6	17	8	2	1	3	0	1	1	2	3	8	2	4	1	4	2	1	1	4	1	1			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr1:156622478G>A	ENST00000329117.4	+	8	2072	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R579Q	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	579					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGTCCCTCGAGGAGAGAGC	0.642													8	34					0	0	0	0	A	156622478	G	A	156622478	3	1	57	1	0	0	0	0	1	0	0	0	1349	1058	37	1	1762	1	BCAN	1	156622478	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	41224302	156622478	92628143	2	10535											
CRB1	23418	broad.mit.edu	37	chr1	197390857	197390857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttaacttctataatatGccatccacaccttcgtttgt	9	16	4	12	1	1	0	0	0	1	0	3	0	2	0	3	0	3	2	3	0	4	7			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr1:197390857G>T	ENST00000367397.1	+	2	900	c.42G>T	c.(40-42)atG>atT	p.M14I	CRB1_ENST00000535699.1_Missense_Mutation_p.M564I|CRB1_ENST00000538660.1_Missense_Mutation_p.M633I|CRB1_ENST00000367400.3_Missense_Mutation_p.M633I|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.M521I|CRB1_ENST00000544212.1_Missense_Mutation_p.M114I			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	633					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTATAATATGCCATCCACAC	0.403													21	118					1.28384e-07	1.4339e-07	1	0	T	197390857	G	T	197390857	3	4	57	1	0	0	0	0	1	0	0	0	3878	1319	46	4	1921	4	CRB1	1	197390857	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	40768379	197390857	51859764	3	10536											
CYP1B1	1545	broad.mit.edu	37	chr2	38298060	38298060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggagatgaagagaaaaagCtgcatcttagaaagttcttc	16	10	10	5	0	2	4	0	1	2	3	3	6	2	4	0	1	2	3	0	1	5	3			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr2:38298060C>A	ENST00000260630.3	-	3	1838	c.1437G>T	c.(1435-1437)caG>caT	p.Q479H	CYP1B1_ENST00000407341.1_Missense_Mutation_p.Q479H|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	479					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	AGAGAAAAAGCTGCATCTTAG	0.463													6	53					5.9392e-07	6.46546e-07	1	0	A	38298060	C	A	38298060	3	1	57	1	0	0	0	0	1	0	0	0	4183	796	28	4	198	4	CYP1B1	2	38298060	Missense_Mutation	SNP	C	TCGA-C9-A480-01A-12D-A24D-08		38298060	204901313	4	10537											
PNPT1	87178	broad.mit.edu	37	chr2	55900087	55900087	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttctgaggtgtcctcttGgtaacaccagtttcttttac	8	16	7	10	0	3	1	0	1	3	0	4	1	4	1	2	2	3	2	2	2	3	6			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr2:55900087G>C	ENST00000447944.2	-	9	893	c.807C>G	c.(805-807)acC>acG	p.T269T		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	269					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTGTCCTCTTGGTAACACCAG	0.373													20	83					0	0	0	0	C	55900087	G	C	55900087	2	2	57	1	0	0	0	0	0	0	0	1	12245	1335	47	4		4	PNPT1	2	55900087	Silent	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	17602027	55900087	187299286	5	10538											
CTNNA2	1496	broad.mit.edu	37	chr2	80085218	80085218	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggcaccatggtacgggcGgcaagggctttgctctccgc	5	7	15	14	5	1	0	0	0	1	0	2	0	1	0	2	5	2	5	2	5	2	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr2:80085218G>A	ENST00000466387.1	+	8	1102	c.378G>A	c.(376-378)gcG>gcA	p.A126A	CTNNA2_ENST00000496558.1_Silent_p.A126A|CTNNA2_ENST00000402739.4_Silent_p.A126A|CTNNA2_ENST00000361291.4_Silent_p.A160A|CTNNA2_ENST00000540488.1_Silent_p.A126A|CTNNA2_ENST00000541047.1_Silent_p.A126A			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	126					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGTACGGGCGGCAAGGGCTT	0.552													19	69					0	0	0	0	A	80085218	G	A	80085218	2	1	57	1	0	0	0	0	0	0	0	1	4045	1103	39	1		1	CTNNA2	2	80085218	Silent	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	24185131	80085218	163114155	6	10539											
INPP4A	3631	broad.mit.edu	37	chr2	99182508	99182508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgacgggtttaacgtgCgggtccctctgccgggcccg	4	7	15	15	6	1	0	0	0	1	0	2	1	2	0	4	3	4	1	4	3	1	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr2:99182508C>T	ENST00000074304.5	+	22	2704	c.2311C>T	c.(2311-2313)Cgg>Tgg	p.R771W	INPP4A_ENST00000409851.3_Missense_Mutation_p.R766W|INPP4A_ENST00000409016.3_Missense_Mutation_p.R732W|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000545415.1_Missense_Mutation_p.R732W|INPP4A_ENST00000409463.1_Missense_Mutation_p.R100W|INPP4A_ENST00000523221.1_Missense_Mutation_p.R771W|INPP4A_ENST00000409540.3_Missense_Mutation_p.R732W	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	771					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GTTTAACGTGCGGGTCCCTCT	0.657													3	12					0	0	0	0	T	99182508	C	T	99182508	3	4	57	1	0	0	0	0	1	0	0	0	7805	759	27	1	2389	1	INPP4A	2	99182508	Missense_Mutation	SNP	C	TCGA-C9-A480-01A-12D-A24D-08	19097290	99182508	144016865	7	10540											
HECW2	57520	broad.mit.edu	37	chr2	197183646	197183646	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaggagcaccgtgtgtcCacagaggacagctgcgtggt	10	6	16	9	2	0	2	0	0	0	2	1	5	1	4	2	3	3	2	2	3	0	0			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr2:197183646C>T	ENST00000260983.2	-	9	2150	c.1968G>A	c.(1966-1968)gtG>gtA	p.V656V	HECW2_ENST00000409111.1_Silent_p.V300V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	656					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ACCGTGTGTCCACAGAGGACA	0.592													5	35					0	0	0	0	T	197183646	C	T	197183646	2	4	57	1	0	0	0	0	0	0	0	1	7093	581	21	4		4	HECW2	2	197183646	Silent	SNP	C	TCGA-C9-A480-01A-12D-A24D-08	98001138	197183646	46015727	8	10541											
DIRC2	84925	broad.mit.edu	37	chr3	122545849	122545849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccaatgggacatcacctCttcttgctgcagagagcagc	9	9	9	14	0	3	1	1	0	2	1	4	3	4	2	2	1	4	3	2	1	1	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr3:122545849C>T	ENST00000261038.5	+	3	1038	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	214					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GACATCACCTCTTCTTGCTGC	0.433													21	75					0	0	0	0	T	122545849	C	T	122545849	3	4	57	1	0	0	0	0	1	0	0	0	4571	913	32	2	650	2	DIRC2	3	122545849	Missense_Mutation	SNP	C	TCGA-C9-A480-01A-12D-A24D-08		122545849	75476581	9	10542											
PLXNA1	5361	broad.mit.edu	37	chr3	126710286	126710286	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagcccctggggggcacAgtcaccattgaggggacgcc	9	4	14	14	1	1	1	1	1	0	0	1	2	1	2	5	5	2	1	5	5	1	1			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr3:126710286A>G	ENST00000251772.4	+	2	1254	c.1185A>G	c.(1183-1185)acA>acG	p.T395T	PLXNA1_ENST00000393409.2_Silent_p.T418T			Q9UIW2	PLXA1_HUMAN	plexin A1	418	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGGGGGGCACAGTCACCATTG	0.652													3	33					0	0	0	0	G	126710286	A	G	126710286	2	3	57	1	0	0	0	0	0	0	0	1	12191	175	7	5		5	PLXNA1	3	126710286	Silent	SNP	A	TCGA-C9-A480-01A-12D-A24D-08	4164437	126710286	71312144	10	10543											
HTR3C	170572	broad.mit.edu	37	chr3	183774688	183774688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtggatcagacgccttccGgtctcactgcctatatcagc	8	11	9	13	2	3	1	3	0	1	1	5	2	4	2	3	2	2	0	3	2	2	3			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr3:183774688G>A	ENST00000318351.1	+	5	449	c.415G>A	c.(415-417)Ggt>Agt	p.G139S		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	139						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GACGCCTTCCGGTCTCACTGC	0.502													27	129					0	0	0	0	A	183774688	G	A	183774688	3	1	57	1	0	0	0	0	1	0	0	0	7499	1116	39	1	433	1	HTR3C	3	183774688	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	57064402	183774688	14247742	11	10544											
SDAD1	55153	broad.mit.edu	37	chr4	76898824	76898824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaagtttatcatggcaaCgaaaaagttcaaagaagagt	18	8	10	5	1	2	3	2	0	0	3	2	4	2	3	0	1	1	4	0	1	7	3			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr4:76898824C>T	ENST00000356260.5	-	4	498	c.380G>A	c.(379-381)cGt>cAt	p.R127H	SDAD1_ENST00000395711.4_Intron	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	127					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATCATGGCAACGAAAAAGTTC	0.373													11	49					0	0	0	0	T	76898824	C	T	76898824	3	4	57	1	0	0	0	0	1	0	0	0	14037	536	19	1	1759	1	SDAD1	4	76898824	Missense_Mutation	SNP	C	TCGA-C9-A480-01A-12D-A24D-08		76898824	114255452	12	10545											
ZDHHC11	79844	broad.mit.edu	37	chr5	825360	825360	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcagcagggagctcttggcTttgactctggtgggacagaa	9	10	14	8	0	3	2	1	1	2	1	3	4	3	4	0	4	2	3	0	4	1	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr5:825360T>C	ENST00000283441.8	-	8	1325	c.942A>G	c.(940-942)aaA>aaG	p.K314K	ZDHHC11_ENST00000424784.2_Silent_p.K314K|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	314						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGCTCTTGGCTTTGACTCTGG	0.552													7	96					0	0	0	0	C	825360	T	C	825360	2	2	57	1	0	0	0	0	0	0	0	1	17696	1606	56	5		5	ZDHHC11	5	825360	Silent	SNP	T	TCGA-C9-A480-01A-12D-A24D-08		825360	180089900	13	10546											
PCDHA6	56142	broad.mit.edu	37	chr5	140209500	140209500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctacaacgcgtggctttcGtatgagctgcagcccccggc	6	8	13	14	4	0	1	0	1	0	0	1	1	0	1	2	3	5	5	2	3	3	3			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr5:140209500G>A	ENST00000529310.1	+	1	1938	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.S608S(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAGCTGC	0.657													13	71					0	0	0	0	A	140209500	G	A	140209500	2	1	57	1	0	0	0	0	0	0	0	1	11599	1132	40	1		1	PCDHA6	5	140209500	Silent	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	139384140	140209500	40705760	14	10547											
PCDHA11	56138	broad.mit.edu	37	chr5	140250305	140250305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgagcgcgcgcgatgcGggcgtgccgcctctgagcag	5	5	18	13	7	1	2	0	2	1	0	1	3	1	2	2	2	4	1	2	2	0	0			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr5:140250305G>A	ENST00000398640.2	+	1	1617	c.1617G>A	c.(1615-1617)gcG>gcA	p.A539A	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGATGCGGGCGTGCCGC	0.682													20	119					0	0	0	0	A	140250305	G	A	140250305	2	1	57	1	0	0	0	0	0	0	0	1	11592	1103	39	1		1	PCDHA11	5	140250305	Silent	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	40805	140250305	40664955	15	10548											
SLC26A2	1836	broad.mit.edu	37	chr5	149360594	149360594	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgttctattcccttcaaAaaagtgtccttggtgtgatc	8	17	7	9	0	2	1	1	1	1	0	5	1	4	1	2	1	0	1	2	1	4	6			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr5:149360594A>C	ENST00000286298.4	+	3	1706	c.1438A>C	c.(1438-1440)Aaa>Caa	p.K480Q		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	480						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTCCCTTCAAAAAAGTGTCCT	0.423													20	60					0	0	0	0	C	149360594	A	C	149360594	3	2	57	1	0	0	0	0	1	0	0	0	14605	15	1	5	1444	5	SLC26A2	5	149360594	Missense_Mutation	SNP	A	TCGA-C9-A480-01A-12D-A24D-08	9110289	149360594	31554666	16	10549											
GABRG2	2566	broad.mit.edu	37	chr5	161580183	161580183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagagagatgaagagtacGgctatgagtgtctggacggc	13	7	16	5	2	1	5	0	2	1	3	1	8	1	6	0	3	1	2	0	3	4	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr5:161580183G>A	ENST00000356592.3	+	10	1697	c.1237G>A	c.(1237-1239)Ggc>Agc	p.G413S	GABRG2_ENST00000361925.4_Missense_Mutation_p.G405S|GABRG2_ENST00000414552.2_Missense_Mutation_p.G453S|GABRG2_ENST00000393933.4_Missense_Mutation_p.G310S	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	405					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGAAGAGTACGGCTATGAGTG	0.483													21	88					0	0	0	0	A	161580183	G	A	161580183	3	1	57	1	0	0	0	0	1	0	0	0	6220	1116	39	1	1399	1	GABRG2	5	161580183	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	12219589	161580183	19335077	17	10550											
DUSP1	1843	broad.mit.edu	37	chr5	172195950	172195950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcacctgggactcaaactGcagcagctggcccatgaagc	11	5	11	14	0	1	1	1	1	0	0	1	2	1	2	2	2	6	4	2	2	2	0			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr5:172195950G>T	ENST00000239223.3	-	4	1161	c.919C>A	c.(919-921)Cag>Aag	p.Q307K	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	307	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GACTCAAACTGCAGCAGCTGG	0.587													14	44					4.3838e-07	4.83342e-07	1	0	T	172195950	G	T	172195950	3	4	57	1	0	0	0	0	1	0	0	0	4845	1328	46	4	188	4	DUSP1	5	172195950	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	10615767	172195950	8719310	18	10551											
RUFY1	80230	broad.mit.edu	37	chr5	179036470	179036470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagccggtgcgagtgtgcGacagctgccacaccctgctc	7	6	12	16	3	0	0	0	0	0	0	1	2	0	0	4	1	6	2	4	1	1	0			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr5:179036470G>A	ENST00000319449.4	+	18	2089	c.2077G>A	c.(2077-2079)Gac>Aac	p.D693N	RUFY1_ENST00000393438.2_Missense_Mutation_p.D585N|RUFY1_ENST00000508797.1_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.D585N|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	693					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGAGTGTGCGACAGCTGCCA	0.652										HNSCC(44;0.11)			5	19					0	0	0	0	A	179036470	G	A	179036470	3	1	57	1	0	0	0	0	1	0	0	0	13823	1058	37	1	2147	1	RUFY1	5	179036470	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	6840520	179036470	1878790	19	10552											
GCLC	2729	broad.mit.edu	37	chr6	53385631	53385631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcttctaatatagaagtagCctccttccggcgttttcgca	8	15	7	11	3	2	1	0	0	2	1	5	1	4	1	3	1	1	3	3	1	5	9			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr6:53385631C>T	ENST00000229416.6	-	3	874	c.391G>A	c.(391-393)Gct>Act	p.A131T	GCLC_ENST00000514004.1_Missense_Mutation_p.A131T	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	131					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	ATAGAAGTAGCCTCCTTCCGG	0.453													37	183					0	0	0	0	T	53385631	C	T	53385631	3	4	57	1	0	0	0	0	1	0	0	0	6344	739	26	4	1578	4	GCLC	6	53385631	Missense_Mutation	SNP	C	TCGA-C9-A480-01A-12D-A24D-08		53385631	117729436	20	10553											
IMPG1	3617	broad.mit.edu	37	chr6	76751728	76751728	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcgatgctttgccaaatcGaatattcgtctcatagttga	10	15	8	8	3	1	1	1	1	1	0	5	3	1	1	1	0	2	3	1	0	4	6			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr6:76751728G>A	ENST00000369950.3	-	2	372	c.183C>T	c.(181-183)ttC>ttT	p.F61F	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	61					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.F61F(1)|p.F61L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCCAAATCGAATATTCGTC	0.368													20	74					0	0	0	0	A	76751728	G	A	76751728	2	1	57	1	0	0	0	0	0	0	0	1	7781	1049	37	1		1	IMPG1	6	76751728	Silent	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	23366097	76751728	94363339	21	10554											
SCML4	256380	broad.mit.edu	37	chr6	108068062	108068062	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctccagatagggcccCgcattggcctgcttgttgat	5	13	10	13	1	1	2	0	1	1	1	3	2	2	2	5	2	1	3	5	2	1	5			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr6:108068062C>T	ENST00000369022.2	-	3	353	c.144G>A	c.(142-144)gcG>gcA	p.A48A	SCML4_ENST00000369021.3_Silent_p.A77A|SCML4_ENST00000369020.3_Silent_p.A106A			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GATAGGGCCCCGCATTGGCCT	0.642													10	60					0	0	0	0	T	108068062	C	T	108068062	2	4	57	1	0	0	0	0	0	0	0	1	13998	639	23	1		1	SCML4	6	108068062	Silent	SNP	C	TCGA-C9-A480-01A-12D-A24D-08	31316334	108068062	63047005	22	10555											
STX11	8676	broad.mit.edu	37	chr6	144508360	144508361	+	Frame_Shift_Del	DEL	GC	GC	-																															cttgctggccgacgtgaaggGcgcgcgggccgccctcaacg																										TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr6:144508360_144508361delGC	ENST00000367568.4	+	2	779_780	c.596_597delGC	c.(595-597)gfs	p.G199fs		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	199					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GACGTGAAGGGCGCGCGGGCCG	0.634									Familial Hemophagocytic Lymphohistiocytosis				8	46	---	---	---	---					-	144508361	GC	-	144508360	7	5	57	1	0	1	0	1	0	0	0	0	15427	1203	42	0	598	0	STX11	6	144508360	Frame_Shift_Del	DEL	GC	TCGA-C9-A480-01A-12D-A24D-08	36440298	144508360	26606707	23	10556											
AEBP1	165	broad.mit.edu	37	chr7	44152173	44152173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtatccacggaggtccGggccatcattgcctggatgg	7	8	14	12	2	1	0	1	0	0	0	3	2	3	2	5	6	1	1	5	6	1	2	rs138705367	byFrequency	TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr7:44152173G>A	ENST00000223357.3	+	18	2539	c.2234G>A	c.(2233-2235)cGg>cAg	p.R745Q	AEBP1_ENST00000450684.2_Missense_Mutation_p.R320Q	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	745	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ACGGAGGTCCGGGCCATCATT	0.622													10	29					0	0	0	0	A	44152173	G	A	44152173	3	1	57	1	0	0	0	0	1	0	0	0	349	1116	39	1	2304	1	AEBP1	7	44152173	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08		44152173	114986490	24	10557											
IKZF1	10320	broad.mit.edu	37	chr7	50467748	50467748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggggccgagtccctgcGcccgctggtgcagacgcccc	3	5	15	18	4	0	1	0	0	0	1	1	2	1	1	6	3	2	2	6	3	0	0			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr7:50467748G>A	ENST00000331340.3	+	8	1138	c.983G>A	c.(982-984)cGc>cAc	p.R328H	IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.R286H|IKZF1_ENST00000438033.1_Missense_Mutation_p.R241H|IKZF1_ENST00000346667.4_Missense_Mutation_p.R98H|IKZF1_ENST00000349824.4_Missense_Mutation_p.R185H|IKZF1_ENST00000343574.5_Missense_Mutation_p.R241H|IKZF1_ENST00000439701.1_Missense_Mutation_p.R286H|IKZF1_ENST00000357364.4_Missense_Mutation_p.R241H	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	328					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAGTCCCTGCGCCCGCTGGTG	0.657			"D,T"	BCL6	"ALL, DLBCL"								4	10					0	0	0	0	A	50467748	G	A	50467748	3	1	57	1	0	0	0	0	1	0	0	0	7667	1087	38	1	1009	1	IKZF1	7	50467748	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	6315575	50467748	108670915	25	10558											
ASB4	51666	broad.mit.edu	37	chr7	95125141	95125141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctctgtcttgtttggcCatgtggaatgtcttctggtg	4	18	11	8	0	5	0	0	0	5	0	6	1	5	1	1	3	0	1	1	3	1	3			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr7:95125141C>T	ENST00000325885.5	+	2	330	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	ASB4_ENST00000428113.1_Missense_Mutation_p.H87Y|ASB4_ENST00000257621.4_3'UTR	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	87					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTGTTTGGCCATGTGGAATG	0.443													12	61					0	0	0	0	T	95125141	C	T	95125141	3	4	57	1	0	0	0	0	1	0	0	0	1029	594	21	4	265	4	ASB4	7	95125141	Missense_Mutation	SNP	C	TCGA-C9-A480-01A-12D-A24D-08	44657393	95125141	64013522	26	10559											
ZNF800	168850	broad.mit.edu	37	chr7	127014574	127014574	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttactgcgtcctttagaggaTtggtttggattctttcgtgt	5	19	11	6	2	1	1	0	0	1	1	3	3	2	3	1	3	2	1	1	3	2	7	rs146028755	byFrequency	TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr7:127014574T>C	ENST00000393313.1	-	5	1407	c.816A>G	c.(814-816)caA>caG	p.Q272Q	ZNF800_ENST00000265827.3_Silent_p.Q272Q|ZNF800_ENST00000393312.1_Silent_p.Q272Q			Q2TB10	ZN800_HUMAN	zinc finger protein 800	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CTTTAGAGGATTGGTTTGGAT	0.373													28	82					0	0	0	0	C	127014574	T	C	127014574	2	2	57	1	0	0	0	0	0	0	0	1	18262	1490	52	5		5	ZNF800	7	127014574	Silent	SNP	T	TCGA-C9-A480-01A-12D-A24D-08	31889433	127014574	32124089	27	10560											
INTS10	55174	broad.mit.edu	37	chr8	19683950	19683950	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttaggtcctaatgccccGagccaagttccactggttct	7	12	8	14	1	1	0	0	0	1	0	4	1	4	0	6	2	2	2	6	2	3	4			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr8:19683950G>T	ENST00000397977.3	+	9	1418	c.1020G>T	c.(1018-1020)ccG>ccT	p.P340P		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	340					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CTAATGCCCCGAGCCAAGTTC	0.488													33	57					5.91797e-21	6.69665e-21	1	0	T	19683950	G	T	19683950	2	4	57	1	0	0	0	0	0	0	0	1	7829	1045	37	3		3	INTS10	8	19683950	Silent	SNP	G	TCGA-C9-A480-01A-12D-A24D-08		19683950	126680072	28	10561											
MOS	4342	broad.mit.edu	37	chr8	57025928	57025928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcactgatcaagatgttcGcgggcttcaggtccaagtgc	8	10	12	11	2	3	2	3	1	0	1	5	2	4	2	1	2	1	3	1	2	2	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr8:57025928G>A	ENST00000311923.1	-	1	613	c.614C>T	c.(613-615)gCg>gTg	p.A205V		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	205	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CAAGATGTTCGCGGGCTTCAG	0.483													17	32					0	0	0	0	A	57025928	G	A	57025928	3	1	57	1	0	0	0	0	1	0	0	0	9782	1087	38	1	429	1	MOS	8	57025928	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	37341978	57025928	89338094	29	10562											
GLDC	2731	broad.mit.edu	37	chr9	6620306	6620306	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggcatgcagagttgcaagGatttcattttcacctaattg	11	14	9	7	0	2	1	2	0	0	1	2	2	2	2	1	2	2	4	1	2	2	6			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr9:6620306G>A	ENST00000321612.6	-	3	498	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	116					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GAGTTGCAAGGATTTCATTTT	0.388													17	54					0	0	0	0	A	6620306	G	A	6620306	2	1	57	1	0	0	0	0	0	0	0	1	6484	1164	41	2		2	GLDC	9	6620306	Silent	SNP	G	TCGA-C9-A480-01A-12D-A24D-08		6620306	134593125	30	10563											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	8	6	10	17	3	2	1	2	1	0	0	4	1	3	1	3	1	4	4	3	1	0	0	rs121913387		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			3	7					0	0	0	0	A	21971186	G	A	21971186	4	1	57	1	0	0	0	0	0	1	0	0	3190	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	15350880	21971186	119242245	31	10564											
SPTLC1	10558	broad.mit.edu	37	chr9	94809508	94809508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctgcagcagctaacagggGaggtaacgaagctgaaaagc	14	5	14	8	1	0	1	0	1	0	0	0	3	0	2	0	3	8	6	0	3	5	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr9:94809508G>A	ENST00000262554.2	-	11	1032	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	343						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GCTAACAGGGGAGGTAACGAA	0.428													7	52					0	0	0	0	A	94809508	G	A	94809508	3	1	57	1	0	0	0	0	1	0	0	0	15213	1174	41	2	414	2	SPTLC1	9	94809508	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	72838322	94809508	46403923	32	10565											
TACC2	10579	broad.mit.edu	37	chr10	123892231	123892231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgttggccaggtctctaCggatctgatagcccagaggt	7	12	13	9	1	2	2	0	1	2	1	3	3	2	3	2	4	2	2	2	4	2	4	rs141016456		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr10:123892231C>T	ENST00000369005.1	+	6	6021	c.5681C>T	c.(5680-5682)aCg>aTg	p.T1894M	TACC2_ENST00000334433.3_Missense_Mutation_p.T1894M|TACC2_ENST00000493951.1_Intron|TACC2_ENST00000358010.1_Missense_Mutation_p.T85M|TACC2_ENST00000515603.1_Missense_Mutation_p.T1894M|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515273.1_Missense_Mutation_p.T1943M|TACC2_ENST00000513429.1_Missense_Mutation_p.T85M|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.T1943M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1894						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGGTCTCTACGGATCTGATA	0.622													12	46					0	0	0	0	T	123892231	C	T	123892231	3	4	57	1	0	0	0	0	1	0	0	0	15593	536	19	1	5699	1	TACC2	10	123892231	Missense_Mutation	SNP	C	TCGA-C9-A480-01A-12D-A24D-08		123892231	11642516	33	10566											
CYP2E1	1571	broad.mit.edu	37	chr10	135352412	135352412	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgacctcagccctatacatAttgggtttggctgtatccca	8	13	8	12	1	1	0	1	0	0	0	3	1	2	0	3	2	2	3	3	2	4	6			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr10:135352412A>G	ENST00000463117.2	+	11	1698	c.1426A>G	c.(1426-1428)Att>Gtt	p.I476V	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.I476V			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	476					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CCCTATACATATTGGGTTTGG	0.473									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				15	46					0	0	0	0	G	135352412	A	G	135352412	3	3	57	1	0	0	0	0	1	0	0	0	4202	449	16	5	1460	5	CYP2E1	10	135352412	Missense_Mutation	SNP	A	TCGA-C9-A480-01A-12D-A24D-08	11460181	135352412	182335	34	10567											
STIM1	6786	broad.mit.edu	37	chr11	3988831	3988831	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagtgaggatgagaaactCagcttcgaggcagtccgtaa	13	7	12	9	2	1	2	1	2	0	1	3	5	2	3	1	2	2	3	1	2	2	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr11:3988831C>G	ENST00000300737.4	+	2	758	c.189C>G	c.(187-189)ctC>ctG	p.L63L	STIM1_ENST00000527651.1_Silent_p.L63L	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	63	EF-hand.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		ATGAGAAACTCAGCTTCGAGG	0.488													20	68					0	0	0	0	G	3988831	C	G	3988831	2	3	57	1	0	0	0	0	0	0	0	1	15373	813	29	2		2	STIM1	11	3988831	Silent	SNP	C	TCGA-C9-A480-01A-12D-A24D-08		3988831	131017685	35	10568											
MYBPC3	4607	broad.mit.edu	37	chr11	47354797	47354797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acccccagagctccgtgttgCcgacatcctggggtggcttc	5	9	12	15	2	0	1	0	0	0	1	3	2	2	1	5	3	2	3	5	3	0	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr11:47354797C>A	ENST00000545968.1	-	30	3332	c.3278G>T	c.(3277-3279)gGc>gTc	p.G1093V	MYBPC3_ENST00000256993.4_Missense_Mutation_p.G1092V|MYBPC3_ENST00000399249.2_Missense_Mutation_p.G1093V	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1092	Fibronectin type-III 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CTCCGTGTTGCCGACATCCTG	0.637													3	2					0.115264	0.118008	1	0	A	47354797	C	A	47354797	3	1	57	1	0	0	0	0	1	0	0	0	10083	739	26	4	566	4	MYBPC3	11	47354797	Missense_Mutation	SNP	C	TCGA-C9-A480-01A-12D-A24D-08	43365966	47354797	87651719	36	10569											
OR5F1	338674	broad.mit.edu	37	chr11	55761533	55761533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctttcaggattgtgtcaGaacaagagagcttgaaaagt	13	13	10	5	0	3	3	2	1	1	2	3	5	3	4	0	1	2	1	0	1	4	4			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr11:55761533G>A	ENST00000278409.1	-	1	568	c.569C>T	c.(568-570)tCt>tTt	p.S190F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GATTGTGTCAGAACAAGAGAG	0.453													14	59					0	0	0	0	A	55761533	G	A	55761533	3	1	57	1	0	0	0	0	1	0	0	0	11229	942	33	2	378	2	OR5F1	11	55761533	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	8406736	55761533	79244983	37	10570											
OR4D11	219986	broad.mit.edu	37	chr11	59271436	59271436	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggccatctccaagcccCtgcactatgtgaccatcatg	10	9	7	15	0	2	1	1	1	1	0	3	1	2	1	5	1	2	1	5	1	2	1			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr11:59271436C>G	ENST00000313253.1	+	1	388	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTCCAAGCCCCTGCACTATGT	0.522													33	156					0	0	0	0	G	59271436	C	G	59271436	3	3	57	1	0	0	0	0	1	0	0	0	11126	680	24	4	390	4	OR4D11	11	59271436	Missense_Mutation	SNP	C	TCGA-C9-A480-01A-12D-A24D-08	3509903	59271436	75735080	38	10571											
MPZL3	196264	broad.mit.edu	37	chr11	118104191	118104191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccaggcactcagcgcaaCggacacaaagcctcgccata	13	5	8	15	3	1	0	1	0	0	0	2	1	1	1	3	2	4	2	3	2	4	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr11:118104191C>T	ENST00000278949.4	-	5	720	c.665G>A	c.(664-666)cGt>cAt	p.R222H	MPZL3_ENST00000525386.1_Missense_Mutation_p.V41I|MPZL3_ENST00000527472.1_Missense_Mutation_p.R210H			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	222					cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTCAGCGCAACGGACACAAAG	0.493													4	45					0	0	0	0	T	118104191	C	T	118104191	3	4	57	1	0	0	0	0	1	0	0	0	9821	536	19	1	50	1	MPZL3	11	118104191	Missense_Mutation	SNP	C	TCGA-C9-A480-01A-12D-A24D-08	58832755	118104191	16902325	39	10572											
FLI1	2313	broad.mit.edu	37	chr11	128680494	128680494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccaggcgctggggcgagCggaaaagcaagcccaacatg	11	3	16	11	3	0	0	0	0	0	0	0	2	0	1	2	5	4	2	2	5	4	0			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr11:128680494C>T	ENST00000344954.6	+	9	1259	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	FLI1_ENST00000534087.1_Missense_Mutation_p.R291W|FLI1_ENST00000429175.2_Missense_Mutation_p.R324W|FLI1_ENST00000281428.8_Missense_Mutation_p.R258W|FLI1_ENST00000525560.1_Missense_Mutation_p.R131W			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	324					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CTGGGGCGAGCGGAAAAGCAA	0.552			T	EWSR1	Ewing sarcoma								9	14					0	0	0	0	T	128680494	C	T	128680494	3	4	57	1	0	0	0	0	1	0	0	0	5969	759	27	1	1004	1	FLI1	11	128680494	Missense_Mutation	SNP	C	TCGA-C9-A480-01A-12D-A24D-08	10576303	128680494	6326022	40	10573											
CLEC1B	51266	broad.mit.edu	37	chr12	10149469	10149469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttccggttgtcaatcttCaggagagtagcattcatgtc	9	14	10	8	1	4	1	3	0	1	1	6	2	5	1	1	2	1	4	1	2	2	5			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr12:10149469C>T	ENST00000428126.2	-	5	584	c.315G>A	c.(313-315)ctG>ctA	p.L105L	CLEC1B_ENST00000348658.4_Silent_p.L105L|CLEC1B_ENST00000298527.6_Silent_p.L138L			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	138					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TGTCAATCTTCAGGAGAGTAG	0.398													15	72					0	0	0	0	T	10149469	C	T	10149469	2	4	57	1	0	0	0	0	0	0	0	1	3536	813	29	2		2	CLEC1B	12	10149469	Silent	SNP	C	TCGA-C9-A480-01A-12D-A24D-08		10149469	123702426	41	10574											
MED13L	23389	broad.mit.edu	37	chr12	116409989	116409989	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacatccggcacacatccttGagctttttgctgattgtctg	7	14	8	12	1	1	2	0	2	1	0	3	2	3	2	2	1	2	3	2	1	0	4			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr12:116409989G>A	ENST00000281928.3	-	26	5990	c.5784C>T	c.(5782-5784)ctC>ctT	p.L1928L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1928					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACACATCCTTGAGCTTTTTGC	0.468													26	42					0	0	0	0	A	116409989	G	A	116409989	2	1	57	1	0	0	0	0	0	0	0	1	9500	1277	45	2		2	MED13L	12	116409989	Silent	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	106260520	116409989	17441906	42	10575											
GCN1L1	10985	broad.mit.edu	37	chr12	120572126	120572126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagcatgctcagcaggagtGagacgatgtttttccggatg	9	10	13	9	2	1	1	1	1	0	1	2	5	2	3	2	2	3	4	2	2	0	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr12:120572126G>A	ENST00000300648.6	-	53	7298	c.7286C>T	c.(7285-7287)tCa>tTa	p.S2429L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2429					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCAGGAGTGAGACGATGTT	0.572													16	47					0	0	0	0	A	120572126	G	A	120572126	3	1	57	1	0	0	0	0	1	0	0	0	6348	1294	45	2	753	2	GCN1L1	12	120572126	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	4162137	120572126	13279769	43	10576											
POSTN	10631	broad.mit.edu	37	chr13	38154807	38154807	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccttgcttactccctttctCcatgcatgaattttcaatgc	7	16	4	14	0	2	1	1	1	1	0	4	1	3	1	3	0	4	2	3	0	3	5			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr13:38154807C>G	ENST00000379747.4	-	11	1537	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	POSTN_ENST00000541481.1_Missense_Mutation_p.E474Q|POSTN_ENST00000541179.1_Missense_Mutation_p.E474Q|POSTN_ENST00000379749.4_Missense_Mutation_p.E474Q|POSTN_ENST00000379743.4_Missense_Mutation_p.E474Q|POSTN_ENST00000379742.4_Missense_Mutation_p.E474Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	474	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTCCCTTTCTCCATGCATGAA	0.408													30	128					0	0	0	0	G	38154807	C	G	38154807	3	3	57	1	0	0	0	0	1	0	0	0	12331	864	30	2	1142	2	POSTN	13	38154807	Missense_Mutation	SNP	C	TCGA-C9-A480-01A-12D-A24D-08		38154807	77015071	44	10577											
DYNC1H1	1778	broad.mit.edu	37	chr14	102508997	102508997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgaatctgctccgtgcggGccgcatctttgtgttcgagc	4	13	13	11	4	2	1	0	1	2	0	4	2	3	1	2	1	3	3	2	1	1	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr14:102508997G>T	ENST00000360184.4	+	69	12589	c.12425G>T	c.(12424-12426)gGc>gTc	p.G4142V	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4142	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTCCGTGCGGGCCGCATCTTT	0.587													8	34					0.000157383	0.000165061	1	0	T	102508997	G	T	102508997	3	4	57	1	0	0	0	0	1	0	0	0	4877	1203	42	4	12699	4	DYNC1H1	14	102508997	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08		102508997	4840543	45	10578											
RYR3	6263	broad.mit.edu	37	chr15	33905502	33905502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcatcaatgggcagccCgtgcaggggatgtttgagaa	9	9	14	9	2	1	1	1	1	0	1	2	3	2	2	2	3	2	4	2	3	2	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr15:33905502C>T	ENST00000389232.4	+	19	2353	c.2283C>T	c.(2281-2283)ccC>ccT	p.P761P	RYR3_ENST00000415757.3_Silent_p.P761P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	761	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGGGCAGCCCGTGCAGGGGA	0.537													5	24					0	0	0	0	T	33905502	C	T	33905502	2	4	57	1	0	0	0	0	0	0	0	1	13855	639	23	1		1	RYR3	15	33905502	Silent	SNP	C	TCGA-C9-A480-01A-12D-A24D-08		33905502	68625890	46	10579											
SIAH1	6477	broad.mit.edu	37	chr16	48396084	48396084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attagccactttctccatagCcaagttgcgaatggatccca	11	11	7	12	1	1	0	0	0	1	0	3	2	2	1	4	1	3	1	4	1	4	4			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr16:48396084C>T	ENST00000380006.2	-	1	1709	c.256G>A	c.(256-258)Gct>Act	p.A86T	SIAH1_ENST00000356721.3_Missense_Mutation_p.A117T|SIAH1_ENST00000394725.2_Missense_Mutation_p.A86T			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	86					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				TTCTCCATAGCCAAGTTGCGA	0.463													13	63					0	0	0	0	T	48396084	C	T	48396084	3	4	57	1	0	0	0	0	1	0	0	0	14387	739	26	4	596	4	SIAH1	16	48396084	Missense_Mutation	SNP	C	TCGA-C9-A480-01A-12D-A24D-08		48396084	41958669	47	10580											
FOXL1	2300	broad.mit.edu	37	chr16	86612494	86612494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcctccctacagctacatCgcgctcatcgccatggcgat	9	8	8	16	4	1	0	1	0	0	0	4	1	2	0	3	1	4	2	3	1	3	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr16:86612494C>T	ENST00000320241.3	+	1	380	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	55					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						ACAGCTACATCGCGCTCATCG	0.672													20	59					0	0	0	0	T	86612494	C	T	86612494	2	4	57	1	0	0	0	0	0	0	0	1	6063	874	31	1		1	FOXL1	16	86612494	Silent	SNP	C	TCGA-C9-A480-01A-12D-A24D-08	38216410	86612494	3742259	48	10581											
SERPINB11	89778	broad.mit.edu	37	chr18	61378551	61378552	+	RNA	INS	-	-	T																															ttctgatgccaaaagatcccINSttttttttcttttctaggtg																										TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr18:61378551_61378552insT	ENST00000544088.1	+	0	230				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CAAAAGATCCCTTTTTTTTCTT	0.337													10	47	---	---	---	---					T	61378552	-	T	61378551	6	5	57	0	1	1	1	0	0	0	0	0	14185	696	24	0		0	SERPINB11	18	61378551	RNA	INS	-	TCGA-C9-A480-01A-12D-A24D-08		61378551	16698697	49	10582											
MYO1F	4542	broad.mit.edu	37	chr19	8615225	8615225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcaatgcccagcaggtagGcgggaaaggccaggactacc	11	5	14	11	1	1	0	1	0	0	0	1	2	1	2	3	5	3	2	3	5	4	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr19:8615225G>A	ENST00000338257.8	-	10	1187	c.920C>T	c.(919-921)gCc>gTc	p.A307V		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	307	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CAGCAGGTAGGCGGGAAAGGC	0.607													5	15					0	0	0	0	A	8615225	G	A	8615225	3	1	57	1	0	0	0	0	1	0	0	0	10143	1203	42	4	2452	4	MYO1F	19	8615225	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08		8615225	50513758	50	10583											
MUC16	94025	broad.mit.edu	37	chr19	8976759	8976759	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgctgaaggaccccctCggtggagttgaatgtagctg	8	9	15	9	1	0	2	0	2	0	0	1	4	0	4	2	4	2	4	2	4	3	2			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr19:8976759C>A	ENST00000397910.4	-	73	42510	c.42307G>T	c.(42307-42309)Gag>Tag	p.E14103*	MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Nonsense_Mutation_p.E744*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14134	SEA 14.			Missing (in Ref. 3; AAK74120).	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						AGGACCCCCTCGGTGGAGTTG	0.557													15	23					1.49906e-05	1.61149e-05	1	0	A	8976759	C	A	8976759	4	1	57	1	0	0	0	0	0	1	0	0	10043	893	31	3	1264	3	MUC16	19	8976759	Nonsense_Mutation	SNP	C	TCGA-C9-A480-01A-12D-A24D-08	361534	8976759	50152224	51	10584											
MEGF8	1954	broad.mit.edu	37	chr19	42839480	42839480	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaatgccctgggtgacctCgtcctatacaacttctccgc	9	10	7	15	2	1	1	0	1	1	0	4	1	2	1	4	1	4	0	4	1	5	3			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr19:42839480C>T	ENST00000334370.4	+	5	1406	c.771C>T	c.(769-771)ctC>ctT	p.L257L	MEGF8_ENST00000251268.6_Silent_p.L257L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	257						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGGTGACCTCGTCCTATACA	0.612													8	56					0	0	0	0	T	42839480	C	T	42839480	2	4	57	1	0	0	0	0	0	0	0	1	9532	871	31	1		1	MEGF8	19	42839480	Silent	SNP	C	TCGA-C9-A480-01A-12D-A24D-08	33862721	42839480	16289503	52	10585											
ZNF761	388561	broad.mit.edu	37	chr19	53960318	53960318	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctagaattcacactggagaGaaaccttaccagtgtaatga	15	9	9	8	0	1	3	1	1	0	2	1	5	1	4	2	1	2	2	2	1	5	4			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr19:53960318G>A	ENST00000454407.1	+	0	3010							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACACTGGAGAGAAACCTTACC	0.423													8	29					0	0	0	0	A	53960318	G	A	53960318	1	1	57	0	1	0	0	0	0	0	0	0	18230	957	33	2		2	ZNF761	19	53960318	RNA	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	11120838	53960318	5168665	53	10586											
KIR3DL2	3812	broad.mit.edu	37	chr19	55378031	55378031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcacagttggatcactgcGttttcatacagagaaaaatc	14	10	8	9	2	2	1	2	0	0	1	3	3	2	2	0	1	2	3	0	1	3	4			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr19:55378031G>A	ENST00000326321.3	+	9	1246	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.V405I|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.V388I	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	405					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGATCACTGCGTTTTCATACA	0.512													76	246					0	0	0	0	A	55378031	G	A	55378031	3	1	57	1	0	0	0	0	1	0	0	0	8373	1145	40	1	1247	1	KIR3DL2	19	55378031	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	1417713	55378031	3750952	54	10587											
RASSF2	9770	broad.mit.edu	37	chr20	4771164	4771164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgccgctggtcactaggcGtcctcacattgccacggcga	6	9	11	15	5	2	0	2	0	0	0	4	1	3	0	3	3	1	1	3	3	1	3	rs149919336	by1000genomes	TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr20:4771164G>A	ENST00000379400.3	-	7	665	c.470C>T	c.(469-471)aCg>aTg	p.T157M	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.T157M	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	157					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GTCACTAGGCGTCCTCACATT	0.617													5	28					0	0	0	0	A	4771164	G	A	4771164	3	1	57	1	0	0	0	0	1	0	0	0	13168	1145	40	1	534	1	RASSF2	20	4771164	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08		4771164	58254356	55	10588											
DIDO1	11083	broad.mit.edu	37	chr20	61512619	61512619	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctcagtggccaggcgcctCgcctgccgggggtccctgtg	2	8	16	15	3	1	0	1	0	1	0	4	0	2	0	5	4	1	0	5	4	0	0			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr20:61512619C>T	ENST00000266070.4	-	16	5014	c.4689G>A	c.(4687-4689)gcG>gcA	p.A1563A	DIDO1_ENST00000395343.1_Silent_p.A1563A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1563					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCAGGCGCCTCGCCTGCCGGG	0.692													7	46					0	0	0	0	T	61512619	C	T	61512619	2	4	57	1	0	0	0	0	0	0	0	1	4559	871	31	1		1	DIDO1	20	61512619	Silent	SNP	C	TCGA-C9-A480-01A-12D-A24D-08	56741455	61512619	1512901	56	10589											
MAPK1	5594	broad.mit.edu	37	chr22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaacatgagctcttacctCgtcactcgggtcgtaatact	10	11	9	11	3	2	1	1	1	1	0	5	2	2	2	1	2	4	2	1	2	4	3			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478													57	44					0	0	0	0	T	22127164	C	T	22127164	3	4	57	1	0	0	0	0	1	0	0	0	9340	893	31	1	126	1	MAPK1	22	22127164	Missense_Mutation	SNP	C	TCGA-C9-A480-01A-12D-A24D-08		22127164	29177402	57	10590											
MGAT3	4248	broad.mit.edu	37	chr22	39883837	39883837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagcgcacggggggccGaggcgcccggcgcaagtggg	5	1	22	13	7	0	0	0	0	0	0	0	2	0	1	3	7	1	2	3	7	1	0			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr22:39883837G>T	ENST00000341184.6	+	2	700	c.485G>T	c.(484-486)cGa>cTa	p.R162L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	162					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACGGGGGGCCGAGGCGCCCGG	0.766													3	7					1	1	1	0	T	39883837	G	T	39883837	3	4	57	1	0	0	0	0	1	0	0	0	9613	1058	37	3	487	3	MGAT3	22	39883837	Missense_Mutation	SNP	G	TCGA-C9-A480-01A-12D-A24D-08	17756673	39883837	11420729	58	10591											
FAM47A	158724	broad.mit.edu	37	chrX	34150165	34150165	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgagagatattttggggagTaaaaactcgtcacggcgaca	13	9	12	7	3	1	2	1	1	0	1	2	5	1	3	0	3	1	1	0	3	4	4			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chrX:34150165T>G	ENST00000346193.3	-	1	282	c.231A>C	c.(229-231)ttA>ttC	p.L77F		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	77										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTTTGGGGAGTAAAAACTCGT	0.537													31	102					0	0	0	0	G	34150165	T	G	34150165	3	3	57	1	0	0	0	0	1	0	0	0	5616	1635	57	5	2148	5	FAM47A	23	34150165	Missense_Mutation	SNP	T	TCGA-C9-A480-01A-12D-A24D-08		34150165	121120395	59	10592											
PLEKHN1	84069	broad.mit.edu	37	chr1	909868	909868	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccccggctacgaccacctCtgggacgagactttgtcttc	7	9	10	15	3	2	1	0	0	2	1	3	5	2	2	4	2	1	1	4	2	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:909868C>T	ENST00000379409.2	+	15	1935	c.1905C>T	c.(1903-1905)ctC>ctT	p.L635L	PLEKHN1_ENST00000379407.2_Silent_p.L548L|PLEKHN1_ENST00000379410.3_Silent_p.L583L			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	635										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACGACCACCTCTGGGACGAGA	0.647													12	50					0	0	0	0	T	909868	C	T	909868	2	4	58	1	0	0	0	0	0	0	0	1	12155	900	32	2		2	PLEKHN1	1	909868	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08		909868	248340753	1	10593											
PLEKHG5	57449	broad.mit.edu	37	chr1	6528107	6528107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccagggctaggggcccctCggcaatcccagctgggccca	6	5	14	16	1	0	0	0	0	0	0	2	0	1	0	5	5	2	3	5	5	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:6528107C>T	ENST00000377748.1	-	21	3517	c.3020G>A	c.(3019-3021)cGa>cAa	p.R1007Q	PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R986Q|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R930Q|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R967Q|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R930Q|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R930Q|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R999Q|PLEKHG5_ENST00000544978.1_Intron|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R1009Q|PLEKHG5_ENST00000377725.1_Intron|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R930Q|PLEKHG5_ENST00000377740.3_Intron	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	986					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AGGGGCCCCTCGGCAATCCCA	0.697													4	10					0	0	0	0	T	6528107	C	T	6528107	3	4	58	1	0	0	0	0	1	0	0	0	12145	884	31	1	239	1	PLEKHG5	1	6528107	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5618239	6528107	242722514	2	10594											
ZBTB48	3104	broad.mit.edu	37	chr1	6648384	6648384	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaccggggaaaggcccttCagttgcgagttctgtgaaca	10	8	12	11	2	2	1	1	1	1	0	2	3	2	2	2	3	2	2	2	3	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:6648384C>T	ENST00000377674.4	+	9	1721	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	521						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AAAGGCCCTTCAGTTGCGAGT	0.642													26	58					0	0	0	0	T	6648384	C	T	6648384	2	4	58	1	0	0	0	0	0	0	0	1	17644	825	29	2		2	ZBTB48	1	6648384	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	120277	6648384	242602237	3	10595											
AADACL4	343066	broad.mit.edu	37	chr1	12726745	12726745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttatataaagggcatatGatagtaaccctggggccccg	12	9	11	9	1	0	1	0	1	0	0	0	1	0	1	3	3	1	3	3	3	7	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12726745G>A	ENST00000376221.1	+	4	1223	c.1223G>A	c.(1222-1224)tGa>tAa	p.*408*		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	0						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		AAGGGCATATGATAGTAACCC	0.438													39	128					0	0	0	0	A	12726745	G	A	12726745	2	1	58	1	0	0	0	0	0	0	0	1	13	1285	45	2		2	AADACL4	1	12726745	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	6078361	12726745	236523876	4	10596											
PRAMEF12	390999	broad.mit.edu	37	chr1	12835020	12835020	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcatcaggatgagcctcCaggccccacctagactcctg	9	8	9	15	0	2	2	2	1	0	1	4	4	4	3	6	2	1	0	6	2	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12835020C>T	ENST00000357726.4	+	1	37	c.10C>T	c.(10-12)Cag>Tag	p.Q4*		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	4										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGAGCCTCCAGGCCCCACC	0.542													27	81					0	0	0	0	T	12835020	C	T	12835020	4	4	58	1	0	0	0	0	0	1	0	0	12504	595	21	4	12	4	PRAMEF12	1	12835020	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	108275	12835020	236415601	5	10597											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855732	12855732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgttccgcatcagtcttGaacccctcggagctctgctg	5	12	10	14	2	3	1	1	1	2	0	5	2	4	2	3	1	4	5	3	1	1	2	rs139798913		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12855732G>A	ENST00000332296.7	+	4	1115	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.E93K	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	338										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCAGTCTTGAACCCCTCGG	0.522													81	267					0	0	0	0	A	12855732	G	A	12855732	3	1	58	1	0	0	0	0	1	0	0	0	12501	1291	45	2	1022	2	PRAMEF1	1	12855732	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	20712	12855732	236394889	6	10598											
PRAMEF11	440560	broad.mit.edu	37	chr1	12884942	12884942	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagccctaatttgagcaaatCtgctccagcagagagtacca	13	8	8	12	0	1	2	0	1	1	1	2	3	2	2	3	0	5	4	3	0	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12884942C>G	ENST00000535591.1	-	4	1364	c.1169G>C	c.(1168-1170)aGa>aCa	p.R390T		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	390										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTGAGCAAATCTGCTCCAGCA	0.498													106	306					0	0	0	0	G	12884942	C	G	12884942	3	3	58	1	0	0	0	0	1	0	0	0	12503	913	32	2	145	2	PRAMEF11	1	12884942	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	29210	12884942	236365679	7	10599											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12908067	12908067	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccgatttcttgacaacaaGagtgttgagattcccaatga	13	12	8	8	1	1	4	0	3	1	2	3	6	3	4	2	0	1	1	2	0	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12908067G>C	ENST00000317869.6	-	2	301	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TTGACAACAAGAGTGTTGAGA	0.443													32	303					0	0	0	0	C	12908067	G	C	12908067	3	2	58	1	0	0	0	0	1	0	0	0	7313	942	33	2	807	2	HNRNPCL1	1	12908067	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	23125	12908067	236342554	8	10600											
HSPB7	27129	broad.mit.edu	37	chr1	16344280	16344280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggaaggccaggggctccGagtggggccgcatgaagctg	7	5	19	10	2	0	1	0	1	0	0	1	3	1	2	3	6	1	3	3	6	2	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:16344280G>A	ENST00000311890.9	-	1	1005	c.179C>T	c.(178-180)tCg>tTg	p.S60L	HSPB7_ENST00000545268.1_Missense_Mutation_p.S60L|HSPB7_ENST00000375718.4_Missense_Mutation_p.S135L|HSPB7_ENST00000487046.1_Missense_Mutation_p.S60L|HSPB7_ENST00000411503.1_Missense_Mutation_p.S60L|HSPB7_ENST00000406363.2_Missense_Mutation_p.S60L	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	60	Required for localization to SC35 splicing speckles.				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGGGCTCCGAGTGGGGCCG	0.687													11	19					0	0	0	0	A	16344280	G	A	16344280	3	1	58	1	0	0	0	0	1	0	0	0	7475	1059	37	1	345	1	HSPB7	1	16344280	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3436213	16344280	232906341	9	10601											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17961342	17961342	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaacaggggccagctggaGatcagcagcctggtgcccct	8	6	13	14	0	1	1	1	0	0	1	2	2	2	1	5	4	5	2	5	4	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:17961342G>C	ENST00000361221.3	+	18	1917	c.1758G>C	c.(1756-1758)gaG>gaC	p.E586D	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.E359D|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E581D|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.E289D|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E547D|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.E344D|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E547D	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	586					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCAGCTGGAGATCAGCAGCC	0.672													11	21					0	0	0	0	C	17961342	G	C	17961342	3	2	58	1	0	0	0	0	1	0	0	0	897	933	33	2	1824	2	ARHGEF10L	1	17961342	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1617062	17961342	231289279	10	10602											
KIF17	57576	broad.mit.edu	37	chr1	21031010	21031010	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctcctcctggtactcGcgaagcagcgcatccttggg	6	11	11	13	3	1	1	0	1	1	0	5	2	3	1	3	2	3	3	3	2	2	3	rs76507805	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:21031010G>A	ENST00000247986.2	-	5	1363	c.1053C>T	c.(1051-1053)cgC>cgT	p.R351R	KIF17_ENST00000400463.3_Silent_p.R351R|KIF17_ENST00000375044.1_Silent_p.R251R			Q9P2E2	KIF17_HUMAN	kinesin family member 17	351					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCTGGTACTCGCGAAGCAGCG	0.602													15	65					0	0	0	0	A	21031010	G	A	21031010	2	1	58	1	0	0	0	0	0	0	0	1	8330	1074	38	1		1	KIF17	1	21031010	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3069668	21031010	228219611	11	10603											
CELA3A	10136	broad.mit.edu	37	chr1	22329569	22329569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgcggtcccctacagCtggccctggcaggtaagagc	8	6	15	12	1	0	1	0	0	0	1	1	3	1	2	3	5	4	3	3	5	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:22329569C>T	ENST00000290122.3	+	2	136	c.117C>T	c.(115-117)agC>agT	p.S39S	CELA3A_ENST00000374663.1_Silent_p.S39S	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCCTACAGCTGGCCCTGGC	0.597													22	121					0	0	0	0	T	22329569	C	T	22329569	2	4	58	1	0	0	0	0	0	0	0	1	3242	796	28	4		4	CELA3A	1	22329569	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1298559	22329569	226921052	12	10604											
HNRNPR	10236	broad.mit.edu	37	chr1	23637048	23637048	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttgctgaagcggctgctGagcgatgggttgggaacccc	7	8	15	11	2	0	2	0	2	0	0	0	4	0	3	3	3	5	4	3	3	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:23637048G>C	ENST00000478691.1	-	10	1778	c.1507C>G	c.(1507-1509)Cag>Gag	p.Q503E	HNRNPR_ENST00000302271.6_Missense_Mutation_p.Q601E|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000427764.2_Missense_Mutation_p.Q563E|HNRNPR_ENST00000426846.2_Missense_Mutation_p.Q441E|HNRNPR_ENST00000374612.1_Missense_Mutation_p.Q601E|HNRNPR_ENST00000374616.3_Missense_Mutation_p.Q604E|HNRNPR_ENST00000606561.1_Missense_Mutation_p.Q462E	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	601	RNA-binding RGG-box.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		AGCGGCTGCTGAGCGATGGGT	0.478													71	247					0	0	0	0	C	23637048	G	C	23637048	3	2	58	1	0	0	0	0	1	0	0	0	7322	1299	45	2	104	2	HNRNPR	1	23637048	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1307479	23637048	225613573	13	10605											
SRRM1	10250	broad.mit.edu	37	chr1	24995948	24995948	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccacggcctcgagctcctCagacctcctcaagtcctcca	8	7	6	20	2	2	1	2	0	0	1	7	2	6	1	7	1	1	1	7	1	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:24995948C>G	ENST00000323848.9	+	14	2389	c.2074C>G	c.(2074-2076)Cag>Gag	p.Q692E	SRRM1_ENST00000374389.4_Missense_Mutation_p.Q701E|SRRM1_ENST00000447431.2_Missense_Mutation_p.Q704E|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	692	Arg-rich.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCGAGCTCCTCAGACCTCCTC	0.592													11	34					0	0	0	0	G	24995948	C	G	24995948	3	3	58	1	0	0	0	0	1	0	0	0	15258	827	29	2	2128	2	SRRM1	1	24995948	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1358900	24995948	224254673	14	10606											
ZNF683	257101	broad.mit.edu	37	chr1	26688267	26688267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcatagcccatgtgtttctCagatgccaccgccataagat	10	11	8	12	1	2	2	2	0	1	2	3	2	2	2	4	0	2	1	4	0	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:26688267C>G	ENST00000436292.1	-	7	1570	c.1450G>C	c.(1450-1452)Gag>Cag	p.E484Q	ZNF683_ENST00000349618.3_Missense_Mutation_p.E464Q|ZNF683_ENST00000374204.1_Missense_Mutation_p.E464Q|ZNF683_ENST00000403843.1_Missense_Mutation_p.E484Q			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ATGTGTTTCTCAGATGCCACC	0.602													35	127					0	0	0	0	G	26688267	C	G	26688267	3	3	58	1	0	0	0	0	1	0	0	0	18185	835	29	2	128	2	ZNF683	1	26688267	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1692319	26688267	222562354	15	10607											
ARID1A	8289	broad.mit.edu	37	chr1	27101074	27101074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaccagcaggcggcccccaGaaccaatttccattccagtt	10	7	8	16	2	0	1	0	0	0	1	2	2	2	1	6	2	2	2	6	2	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:27101074G>C	ENST00000324856.7	+	18	4727	c.4356G>C	c.(4354-4356)caG>caC	p.Q1452H	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q1069H|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1452					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCGGCCCCCAGAACCAATTTC	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								4	159					0	0	0	0	C	27101074	G	C	27101074	3	2	58	1	0	0	0	0	1	0	0	0	915	933	33	2	4426	2	ARID1A	1	27101074	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	412807	27101074	222149547	16	10608											
ARID1A	8289	broad.mit.edu	37	chr1	27101465	27101465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caagcatgcagaatcacattCctcaggtatccagccctgct	11	9	7	14	0	2	1	2	0	0	1	4	1	4	1	3	1	4	4	3	1	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:27101465C>T	ENST00000324856.7	+	18	5118	c.4747C>T	c.(4747-4749)Cct>Tct	p.P1583S	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1200S|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1583					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAATCACATTCCTCAGGTATC	0.602			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								40	75					0	0	0	0	T	27101465	C	T	27101465	3	4	58	1	0	0	0	0	1	0	0	0	915	855	30	2	4817	2	ARID1A	1	27101465	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	391	27101465	222149156	17	10609											
PHACTR4	65979	broad.mit.edu	37	chr1	28806962	28806962	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttccccgtgtgcaaaGgtgctctcgccaacaaagtg	8	12	9	12	2	2	0	0	0	2	0	4	0	3	0	3	1	3	2	3	1	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:28806962G>A	ENST00000373839.3	+	9	1867		c.e9-1		PHACTR4_ENST00000373836.3_Splice_Site|PHACTR4_ENST00000493669.1_Splice_Site	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4								actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGTGCAAAGGTGCTCTCGC	0.428													20	88					0	0	0	0	A	28806962	G	A	28806962	5	1	58	1	0	0	0	0	0	0	1	0	11884	1014	35	4	1686	4	PHACTR4	1	28806962	Splice_Site	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1705497	28806962	220443659	18	10610											
PHACTR4	65979	broad.mit.edu	37	chr1	28807096	28807096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaatgaaatacggcaccaGattggaaacacactgatccg	15	7	10	9	2	0	3	0	2	0	1	1	5	1	5	2	3	2	1	2	3	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:28807096G>C	ENST00000373839.3	+	9	2001	c.1740G>C	c.(1738-1740)caG>caC	p.Q580H	PHACTR4_ENST00000373836.3_Missense_Mutation_p.Q590H|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	580							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TACGGCACCAGATTGGAAACA	0.418													47	211					0	0	0	0	C	28807096	G	C	28807096	3	2	58	1	0	0	0	0	1	0	0	0	11884	933	33	2	1820	2	PHACTR4	1	28807096	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	134	28807096	220443525	19	10611											
C1orf94	84970	broad.mit.edu	37	chr1	34667794	34667794	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaaccctgaaccagccactCtggctcaacctgaactatcc	11	7	6	17	0	2	2	1	2	1	0	3	2	3	2	5	1	5	2	5	1	5	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:34667794C>G	ENST00000488417.1	+	4	1500	c.1380C>G	c.(1378-1380)ctC>ctG	p.L460L	C1orf94_ENST00000373374.3_Silent_p.L270L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	270							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ACCAGCCACTCTGGCTCAACC	0.522													19	55					0	0	0	0	G	34667794	C	G	34667794	2	3	58	1	0	0	0	0	0	0	0	1	2091	900	32	2		2	C1orf94	1	34667794	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5860698	34667794	214582827	20	10612											
CLSPN	63967	broad.mit.edu	37	chr1	36230196	36230196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attctctttattttcctcctCggcactgtcataggtagttt	6	19	6	10	1	2	0	1	0	1	0	6	0	4	0	2	2	0	3	2	2	3	8	rs139161179	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:36230196C>T	ENST00000251195.5	-	3	349	c.253G>A	c.(253-255)Gag>Aag	p.E85K	CLSPN_ENST00000373220.3_Missense_Mutation_p.E85K|CLSPN_ENST00000318121.3_Missense_Mutation_p.E85K|CLSPN_ENST00000520551.1_Missense_Mutation_p.E85K			Q9HAW4	CLSPN_HUMAN	claspin	85					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTCCTCCTCGGCACTGTCA	0.373													23	160					0	0	0	0	T	36230196	C	T	36230196	3	4	58	1	0	0	0	0	1	0	0	0	3590	893	31	1	3858	1	CLSPN	1	36230196	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1562402	36230196	213020425	21	10613											
SF3A3	10946	broad.mit.edu	37	chr1	38449853	38449853	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccttacctcagatgccttCaggttaatgtacttgaggta	9	13	10	9	0	2	2	2	1	0	1	2	2	2	2	3	3	3	3	3	3	4	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:38449853C>T	ENST00000373019.4	-	6	1411	c.456G>A	c.(454-456)ctG>ctA	p.L152L	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Silent_p.L99L	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	152					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAGATGCCTTCAGGTTAATGT	0.468													9	42					0	0	0	0	T	38449853	C	T	38449853	2	4	58	1	0	0	0	0	0	0	0	1	14235	813	29	2		2	SF3A3	1	38449853	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2219657	38449853	210800768	22	10614											
MACF1	23499	broad.mit.edu	37	chr1	39792905	39792905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggctctcagaaaaagaGaagaaacaaatatctgagca	19	6	8	8	0	2	4	1	1	2	3	4	5	3	4	1	1	2	2	1	1	6	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:39792905G>A	ENST00000564288.1	+	36	5271	c.4494G>A	c.(4492-4494)gaG>gaA	p.E1498E	MACF1_ENST00000539005.1_Silent_p.E1503E|MACF1_ENST00000372915.3_Silent_p.E1503E|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Silent_p.E1503E|MACF1_ENST00000545844.1_Silent_p.E1503E|MACF1_ENST00000361689.2_Silent_p.E1503E|MACF1_ENST00000567887.1_Silent_p.E1535E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1503					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGAAAAAGAGAAGAAACAAA	0.388													13	74					0	0	0	0	A	39792905	G	A	39792905	2	1	58	1	0	0	0	0	0	0	0	1	9209	933	33	2		2	MACF1	1	39792905	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1343052	39792905	209457716	23	10615											
MACF1	23499	broad.mit.edu	37	chr1	39806314	39806314	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagatgccaagaatcttcaGaagtctctcagctctgtgag	13	10	9	9	0	5	4	2	1	3	3	6	4	5	4	1	0	2	1	1	0	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:39806314G>C	ENST00000564288.1	+	39	11133	c.10356G>C	c.(10354-10356)caG>caC	p.Q3452H	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.Q3457H|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.Q1892H|MACF1_ENST00000567887.1_Missense_Mutation_p.Q3489H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3457					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAATCTTCAGAAGTCTCTCA	0.433													17	70					0	0	0	0	C	39806314	G	C	39806314	3	2	58	1	0	0	0	0	1	0	0	0	9209	933	33	2	10455	2	MACF1	1	39806314	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	13409	39806314	209444307	24	10616											
MACF1	23499	broad.mit.edu	37	chr1	39833972	39833972	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttcacagagctacagaaGacagttaaagagaggtgagt	16	7	12	6	0	1	5	1	1	0	4	1	7	1	5	0	1	2	2	0	1	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:39833972G>C	ENST00000564288.1	+	50	13701	c.12924G>C	c.(12922-12924)aaG>aaC	p.K4308N	MACF1_ENST00000539005.1_Missense_Mutation_p.K2246N|MACF1_ENST00000372915.3_Missense_Mutation_p.K4313N|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.K2246N|MACF1_ENST00000545844.1_Missense_Mutation_p.K2246N|MACF1_ENST00000361689.2_Missense_Mutation_p.K2246N|MACF1_ENST00000289893.4_Missense_Mutation_p.K2748N|MACF1_ENST00000567887.1_Missense_Mutation_p.K4345N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4313					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCTACAGAAGACAGTTAAAG	0.423													30	116					0	0	0	0	C	39833972	G	C	39833972	3	2	58	1	0	0	0	0	1	0	0	0	9209	933	33	2	13067	2	MACF1	1	39833972	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	27658	39833972	209416649	25	10617											
TRIT1	54802	broad.mit.edu	37	chr1	40313713	40313713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgaaaatctcttagttcctCcaagagcccagcagcaagca	13	8	8	12	0	1	2	0	1	1	1	4	2	3	2	3	0	4	4	3	0	5	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:40313713C>T	ENST00000316891.5	-	6	774	c.760G>A	c.(760-762)Gag>Aag	p.E254K	TRIT1_ENST00000537223.1_5'UTR|TRIT1_ENST00000545233.1_Missense_Mutation_p.E8K|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E254K|TRIT1_ENST00000441669.2_Missense_Mutation_p.E172K	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	254	Interaction with isopentenylpyrophosphate transferase (By similarity).				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTAGTTCCTCCAAGAGCCCA	0.428													35	137					0	0	0	0	T	40313713	C	T	40313713	3	4	58	1	0	0	0	0	1	0	0	0	16655	864	30	2	667	2	TRIT1	1	40313713	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	479741	40313713	208936908	26	10618											
RLF	6018	broad.mit.edu	37	chr1	40703619	40703619	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataacacatggatctttctCagggtcattgcaggggtacc	11	11	10	9	0	3	0	2	0	2	0	4	1	3	1	1	4	3	2	1	4	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:40703619C>G	ENST00000372771.4	+	8	3272	c.3245C>G	c.(3244-3246)tCa>tGa	p.S1082*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1082					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGATCTTTCTCAGGGTCATTG	0.408													47	186					0	0	0	0	G	40703619	C	G	40703619	4	3	58	1	0	0	0	0	0	1	0	0	13474	838	29	2	3275	2	RLF	1	40703619	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	389906	40703619	208547002	27	10619											
ZNF684	127396	broad.mit.edu	37	chr1	41012566	41012566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaaccttttgaatgcaatGactgtggaaaagcctatagc	16	10	8	7	0	0	2	0	2	0	0	0	3	0	3	2	1	4	1	2	1	8	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:41012566G>A	ENST00000372699.3	+	5	822	c.571G>A	c.(571-573)Gac>Aac	p.D191N	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TGAATGCAATGACTGTGGAAA	0.393													17	118					0	0	0	0	A	41012566	G	A	41012566	3	1	58	1	0	0	0	0	1	0	0	0	18186	1290	45	2	585	2	ZNF684	1	41012566	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	308947	41012566	208238055	28	10620											
EDN2	1907	broad.mit.edu	37	chr1	41946860	41946860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttgggactgccccggcttCagtcctacgtgaatagcatt	7	11	11	12	2	1	1	1	1	0	0	2	2	2	2	3	2	3	3	3	2	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:41946860C>G	ENST00000372587.4	-	4	418	c.349G>C	c.(349-351)Gaa>Caa	p.E117Q	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	117					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCCGGCTTCAGTCCTACGT	0.632													35	95					0	0	0	0	G	41946860	C	G	41946860	3	3	58	1	0	0	0	0	1	0	0	0	4953	835	29	2	195	2	EDN2	1	41946860	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	934294	41946860	207303761	29	10621											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43636430	43636430	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacttctatttcttaccttCtgcatctgcagatcagattt	10	17	4	10	0	5	2	1	0	4	2	5	2	5	2	1	0	4	2	1	0	3	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:43636430C>T	ENST00000431635.2	-	5	757	c.609G>A	c.(607-609)caG>caA	p.Q203Q	EBNA1BP2_ENST00000236051.2_Silent_p.Q148Q	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	148					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCTTACCTTCTGCATCTGCA	0.453													77	308					0	0	0	0	T	43636430	C	T	43636430	2	4	58	1	0	0	0	0	0	0	0	1	4921	912	32	2		2	EBNA1BP2	1	43636430	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1689570	43636430	205614191	30	10622											
B4GALT2	8704	broad.mit.edu	37	chr1	44456112	44456112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctccgtcgtggccccctCggggctgacactaatggaca	6	7	13	15	3	0	1	0	1	0	0	3	2	1	2	4	5	0	1	4	5	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:44456112C>T	ENST00000356836.6	+	7	1901	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	B4GALT2_ENST00000434555.2_Missense_Mutation_p.R305W|B4GALT2_ENST00000372324.1_Missense_Mutation_p.R371W|B4GALT2_ENST00000309519.7_Missense_Mutation_p.R400W	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	371					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GTGGCCCCCTCGGGGCTGACA	0.622													14	274					0	0	0	0	T	44456112	C	T	44456112	3	4	58	1	0	0	0	0	1	0	0	0	1275	875	31	1	1133	1	B4GALT2	1	44456112	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	819682	44456112	204794509	31	10623											
SLC5A9	200010	broad.mit.edu	37	chr1	48697260	48697260	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagatgctctgcagacggtGatcatggtagggggagccct	9	8	15	9	1	2	3	1	1	1	2	2	4	2	4	1	4	3	3	1	4	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:48697260G>A	ENST00000236495.5	+	7	779	c.729G>A	c.(727-729)gtG>gtA	p.V243V	SLC5A9_ENST00000533824.1_Silent_p.V239V|SLC5A9_ENST00000438567.2_Silent_p.V218V|SLC5A9_ENST00000420136.2_3'UTR	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	218						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TGCAGACGGTGATCATGGTAG	0.542													13	81					0	0	0	0	A	48697260	G	A	48697260	2	1	58	1	0	0	0	0	0	0	0	1	14760	1277	45	2		2	SLC5A9	1	48697260	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4241148	48697260	200553361	32	10624											
CC2D1B	200014	broad.mit.edu	37	chr1	52821958	52821958	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctgtttcttgcggtcctGagcaagcttctcaaatctga	8	13	9	11	1	3	2	1	2	3	0	5	2	4	2	1	1	4	4	1	1	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:52821958G>C	ENST00000371586.2	-	18	2110	c.1972C>G	c.(1972-1974)Cag>Gag	p.Q658E	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q652E|CC2D1B_ENST00000438831.1_Missense_Mutation_p.Q33E	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	658										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TTGCGGTCCTGAGCAAGCTTC	0.572													64	299					0	0	0	0	C	52821958	G	C	52821958	3	2	58	1	0	0	0	0	1	0	0	0	2752	1299	45	2	632	2	CC2D1B	1	52821958	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4124698	52821958	196428663	33	10625											
ZCCHC11	23318	broad.mit.edu	37	chr1	52981631	52981631	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcaaccccagcctctgctCaggtgtcaatgcagattcat	9	12	7	13	0	5	1	4	0	1	1	5	1	5	1	3	1	4	2	3	1	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:52981631C>G	ENST00000371544.3	-	3	1076	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E272Q|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.E272Q|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	272					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGCCTCTGCTCAGGTGTCAAT	0.368													40	159					0	0	0	0	G	52981631	C	G	52981631	3	3	58	1	0	0	0	0	1	0	0	0	17675	835	29	2	4235	2	ZCCHC11	1	52981631	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	159673	52981631	196268990	34	10626											
ECHDC2	55268	broad.mit.edu	37	chr1	53373583	53373583	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgctggacaaacaccccCacctctgcttcactcatctg	9	9	6	17	1	4	0	2	0	2	0	5	1	4	1	3	1	2	2	3	1	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:53373583C>G	ENST00000536120.1	-	7	1000	c.183G>C	c.(181-183)gtG>gtC	p.V61V	ECHDC2_ENST00000541281.1_Silent_p.V61V|ECHDC2_ENST00000371522.4_Silent_p.V107V|ECHDC2_ENST00000358358.5_Silent_p.V107V			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	107					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CAAACACCCCCACCTCTGCTT	0.592													13	103					0	0	0	0	G	53373583	C	G	53373583	2	3	58	1	0	0	0	0	0	0	0	1	4930	581	21	4		4	ECHDC2	1	53373583	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	391952	53373583	195877038	35	10627											
FAM151A	338094	broad.mit.edu	37	chr1	55089033	55089033	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgccggcaaacacccacttGacctgattctttgataactg	11	11	7	12	1	1	3	0	3	1	0	1	3	1	3	3	1	3	1	3	1	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:55089033G>C	ENST00000302250.2	-	1	196	c.36C>G	c.(34-36)gtC>gtG	p.V12V	RP11-240D10.4_ENST00000416119.1_RNA|ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Silent_p.V12V	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	12						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ACACCCACTTGACCTGATTCT	0.612													53	233					0	0	0	0	C	55089033	G	C	55089033	2	2	58	1	0	0	0	0	0	0	0	1	5499	1277	45	2		2	FAM151A	1	55089033	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1715450	55089033	194161588	36	10628											
C1orf168	199920	broad.mit.edu	37	chr1	57257831	57257831	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagctttttctgatatgttGagaaattacaaaagagggat	14	13	9	5	0	1	3	0	2	1	2	1	5	1	4	1	1	2	2	1	1	5	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:57257831G>C	ENST00000343433.6	-	2	735	c.655C>G	c.(655-657)Caa>Gaa	p.Q219E	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	219										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						CTGATATGTTGAGAAATTACA	0.522													50	279					0	0	0	0	C	57257831	G	C	57257831	3	2	58	1	0	0	0	0	1	0	0	0	2031	1299	45	2	1607	2	C1orf168	1	57257831	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2168798	57257831	191992790	37	10629											
INADL	10207	broad.mit.edu	37	chr1	62455875	62455875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatatgcagatctgcctggaGaactgcacattattgaactt	12	12	9	8	0	1	3	0	1	1	2	1	5	1	3	1	1	5	2	1	1	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:62455875G>C	ENST00000371158.2	+	28	3820	c.3706G>C	c.(3706-3708)Gaa>Caa	p.E1236Q	INADL_ENST00000316485.6_Missense_Mutation_p.E1236Q|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Missense_Mutation_p.E20Q	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1236					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCTGCCTGGAGAACTGCACAT	0.343													17	90					0	0	0	0	C	62455875	G	C	62455875	3	2	58	1	0	0	0	0	1	0	0	0	7784	943	33	2	3812	2	INADL	1	62455875	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	5198044	62455875	186794746	38	10630											
PDE4B	5142	broad.mit.edu	37	chr1	66838008	66838008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctccaggttggtttcatcGactacattgtccatccattg	7	16	7	11	1	2	0	1	0	1	0	6	1	4	0	3	2	1	2	3	2	1	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:66838008G>A	ENST00000423207.2	+	15	2298	c.1813G>A	c.(1813-1815)Gac>Aac	p.D605N	PDE4B_ENST00000480109.2_Missense_Mutation_p.D387N|PDE4B_ENST00000371049.3_Missense_Mutation_p.D620N|PDE4B_ENST00000329654.4_Missense_Mutation_p.D620N|PDE4B_ENST00000371045.5_Missense_Mutation_p.D448N	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	620					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGGTTTCATCGACTACATTGT	0.413													56	164					0	0	0	0	A	66838008	G	A	66838008	3	1	58	1	0	0	0	0	1	0	0	0	11711	1058	37	1	2278	1	PDE4B	1	66838008	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4382133	66838008	182412613	39	10631											
WDR78	79819	broad.mit.edu	37	chr1	67340502	67340502	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagattctacagagaccatGactgtgggcaagtcaaaaaa	16	8	9	8	0	3	3	2	1	1	2	3	4	3	3	1	1	1	1	1	1	5	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:67340502G>A	ENST00000371026.3	-	5	817	c.762C>T	c.(760-762)gtC>gtT	p.V254V	WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Silent_p.V254V|WDR78_ENST00000371022.3_Silent_p.V254V	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	254										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CAGAGACCATGACTGTGGGCA	0.373													49	151					0	0	0	0	A	67340502	G	A	67340502	2	1	58	1	0	0	0	0	0	0	0	1	17424	1277	45	2		2	WDR78	1	67340502	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	502494	67340502	181910119	40	10632											
RPE65	6121	broad.mit.edu	37	chr1	68897200	68897200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggctccagccagatagtCtcgtcactgcacagaattgc	10	9	9	13	1	3	2	2	0	1	2	5	2	4	2	2	1	3	2	2	1	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:68897200C>T	ENST00000262340.5	-	11	1250	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	399					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GCCAGATAGTCTCGTCACTGC	0.463													25	42					0	0	0	0	T	68897200	C	T	68897200	2	4	58	1	0	0	0	0	0	0	0	1	13630	912	32	2		2	RPE65	1	68897200	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1556698	68897200	180353421	41	10633											
LRRC8D	55144	broad.mit.edu	37	chr1	90401042	90401042	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctcactcagctggagctGaaggggaactgcttggaccg	9	7	14	11	1	2	1	2	1	0	0	2	4	2	4	1	4	5	4	1	4	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:90401042G>A	ENST00000337338.5	+	3	2822	c.2415G>A	c.(2413-2415)ctG>ctA	p.L805L	LRRC8D_ENST00000394593.3_Silent_p.L805L	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	805						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGCTGGAGCTGAAGGGGAACT	0.527													37	64					0	0	0	0	A	90401042	G	A	90401042	2	1	58	1	0	0	0	0	0	0	0	1	9088	1277	45	2		2	LRRC8D	1	90401042	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	21503842	90401042	158849579	42	10634											
FRRS1	391059	broad.mit.edu	37	chr1	100203724	100203724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatcaccgattggtcatctCttgtgaaggacaagaagaca	13	9	9	10	1	3	3	2	1	1	2	4	5	3	4	2	2	0	0	2	2	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:100203724C>G	ENST00000414213.1	-	7	1278	c.677G>C	c.(676-678)aGa>aCa	p.R226T	FRRS1_ENST00000287474.5_Missense_Mutation_p.R226T			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	226	DOMON.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TTGGTCATCTCTTGTGAAGGA	0.458													11	127					0	0	0	0	G	100203724	C	G	100203724	3	3	58	1	0	0	0	0	1	0	0	0	6108	913	32	2	1247	2	FRRS1	1	100203724	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	9802682	100203724	149046897	43	10635											
CELSR2	1952	broad.mit.edu	37	chr1	109806290	109806290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtggcctggcatggcctctCgctgcccatctcccaaccct	4	9	10	18	1	2	0	0	0	2	0	4	0	2	0	5	4	2	2	5	4	1	0	rs139381040		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:109806290C>G	ENST00000271332.3	+	9	4953	c.4892C>G	c.(4891-4893)tCg>tGg	p.S1631W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1631	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATGGCCTCTCGCTGCCCATC	0.652											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	124					0	0	0	0	G	109806290	C	G	109806290	3	3	58	1	0	0	0	0	1	0	0	0	3251	893	31	3	4926	3	CELSR2	1	109806290	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	9602566	109806290	139444331	44	10636											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	113000008	113000008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcaaatggtaaggatgttGagttacttttgcctaccagc	11	13	10	7	0	0	1	0	1	0	0	0	2	0	2	2	2	5	4	2	2	5	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:113000008G>C	ENST00000271277.6	+	6	2119	c.1894G>C	c.(1894-1896)Gag>Cag	p.E632Q	CTTNBP2NL_ENST00000607039.1_Intron|RP4-671G15.3_ENST00000508462.1_RNA	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	632						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAGGATGTTGAGTTACTTTT	0.478													47	61					0	0	0	0	C	113000008	G	C	113000008	3	2	58	1	0	0	0	0	1	0	0	0	4078	1291	45	2	1908	2	CTTNBP2NL	1	113000008	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3193718	113000008	136250613	45	10637											
HIPK1	204851	broad.mit.edu	37	chr1	114483834	114483834	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttggagcagaacttatatGattttctaaagcaaaacaaa	17	12	7	5	0	1	2	0	1	1	1	1	3	1	3	0	1	4	3	0	1	8	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:114483834G>C	ENST00000369558.1	+	2	1061	c.829G>C	c.(829-831)Gat>Cat	p.D277H	HIPK1_ENST00000369561.4_Missense_Mutation_p.D277H|HIPK1_ENST00000369555.2_Missense_Mutation_p.D277H|HIPK1_ENST00000369559.4_Missense_Mutation_p.D277H|HIPK1_ENST00000426820.2_Missense_Mutation_p.D277H|HIPK1_ENST00000369554.2_Missense_Mutation_p.D277H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	277	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAACTTATATGATTTTCTAAA	0.408													33	61					0	0	0	0	C	114483834	G	C	114483834	3	2	58	1	0	0	0	0	1	0	0	0	7166	1290	45	2	831	2	HIPK1	1	114483834	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1483826	114483834	134766787	46	10638											
WARS2	10352	broad.mit.edu	37	chr1	119619152	119619152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtaacctcacccagctctCaatggctcccaggtaattgc	9	10	7	15	0	2	0	2	0	1	0	4	0	3	0	3	2	3	4	3	2	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:119619152C>G	ENST00000369426.5	-	2	172	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	WARS2_ENST00000537870.1_5'UTR|WARS2_ENST00000235521.4_Missense_Mutation_p.E57Q			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	57					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ACCCAGCTCTCAATGGCTCCC	0.483													64	145					0	0	0	0	G	119619152	C	G	119619152	3	3	58	1	0	0	0	0	1	0	0	0	17346	835	29	2	962	2	WARS2	1	119619152	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5135318	119619152	129631469	47	10639											
PDE4DIP	9659	broad.mit.edu	37	chr1	144882644	144882644	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctattcccttccttgctactCagcacaagttgttctttgag	7	16	6	12	0	2	1	1	1	1	0	4	1	4	1	2	0	3	4	2	0	3	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:144882644C>G	ENST00000369359.4	-	27	3824	c.3786G>C	c.(3784-3786)ctG>ctC	p.L1262L	PDE4DIP_ENST00000530740.1_Silent_p.L1262L|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Silent_p.L1125L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Silent_p.L1125L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1125					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTTGCTACTCAGCACAAGTT	0.463			T	PDGFRB	MPD								27	372					0	0	0	0	G	144882644	C	G	144882644	2	3	58	1	0	0	0	0	0	0	0	1	11714	813	29	2		2	PDE4DIP	1	144882644	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	25263492	144882644	104367977	48	10640											
SEC22B	9554	broad.mit.edu	37	chr1	145109554	145109554	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcagggggtgtgtgatttGgttttatgtgaagctgcctt	6	15	16	4	0	0	2	0	2	0	0	0	3	0	2	1	3	3	3	1	3	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:145109554G>C	ENST00000453618.1	+	0	543							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TGTGTGATTTGGTTTTATGTG	0.413													17	604					0	0	0	0	C	145109554	G	C	145109554	1	2	58	0	1	0	0	0	0	0	0	0	14076	1339	47	4		4	SEC22B	1	145109554	RNA	SNP	G	TCGA-CN-4723-01A-01D-1434-08	226910	145109554	104141067	49	10641											
CHD1L	9557	broad.mit.edu	37	chr1	146763163	146763163	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctttctgttttacctcaGacctgagtttgggaggtgtc	5	16	10	10	0	2	2	1	1	1	1	4	3	3	3	3	2	1	2	3	2	1	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:146763163G>C	ENST00000369258.4	+	20	2340		c.e20-1		CHD1L_ENST00000467213.1_Splice_Site|CHD1L_ENST00000369259.3_Splice_Site|CHD1L_ENST00000361293.5_Splice_Site|CHD1L_ENST00000431239.1_Splice_Site	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like						chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TTTTACCTCAGACCTGAGTTT	0.398													16	102					0	0	0	0	C	146763163	G	C	146763163	5	2	58	1	0	0	0	0	0	0	1	0	3353	956	33	2	2398	2	CHD1L	1	146763163	Splice_Site	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1653609	146763163	102487458	50	10642											
HIST2H2BE	8349	broad.mit.edu	37	chr1	149857978	149857978	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcctctcccgcgatgcgctcGaagatgtcgttgacgaagga	8	8	13	12	6	1	2	0	1	1	1	4	6	1	3	2	1	1	2	2	1	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:149857978G>C	ENST00000369155.2	-	1	254	c.213C>G	c.(211-213)ttC>ttG	p.F71L		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	71					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.F71L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGATGCGCTCGAAGATGTCGT	0.622													83	168					0	0	0	0	C	149857978	G	C	149857978	3	2	58	1	0	0	0	0	1	0	0	0	7229	1049	37	3	171	3	HIST2H2BE	1	149857978	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3094815	149857978	99392643	51	10643											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859411	149859411	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagaccagcgcgggacGagcgcgacttggccttagcg	8	5	16	12	6	0	1	0	0	0	1	0	5	0	2	2	3	3	0	2	3	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:149859411G>T	ENST00000331128.3	-	1	55	c.56C>A	c.(55-57)tCg>tAg	p.S19*		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	19					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGCGCGGGACGAGCGCGACTT	0.622													58	125					3.30712e-30	3.56173e-30	1	0	T	149859411	G	T	149859411	4	4	58	1	0	0	0	0	0	1	0	0	7227	1059	37	3	340	3	HIST2H2AB	1	149859411	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1433	149859411	99391210	52	10644											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131448	150131448	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaactggaggagactcaGgagcttctggcagaggttca	12	7	15	7	0	3	2	2	0	1	2	3	6	3	5	0	6	2	3	0	6	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:150131448G>A	ENST00000369124.4	+	6	1238	c.960G>A	c.(958-960)caG>caA	p.Q320Q	PLEKHO1_ENST00000025469.6_Silent_p.Q286Q|PLEKHO1_ENST00000369126.1_Silent_p.Q137Q	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	320	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGACTCAGGAGCTTCTGG	0.647													4	117					0	0	0	0	A	150131448	G	A	150131448	2	1	58	1	0	0	0	0	0	0	0	1	12156	991	35	4		4	PLEKHO1	1	150131448	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	272037	150131448	99119173	53	10645											
C1orf51	148523	broad.mit.edu	37	chr1	150259239	150259239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgccagtaactctgccatCagactggagctataccctat	10	12	7	12	0	2	1	1	0	1	1	2	2	2	2	3	1	5	2	3	1	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:150259239C>T	ENST00000290363.5	+	5	1480	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	C1orf51_ENST00000369094.1_Missense_Mutation_p.S256L|C1orf51_ENST00000369095.1_Missense_Mutation_p.S344L	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	344										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTCTGCCATCAGACTGGAGC	0.542													56	117					0	0	0	0	T	150259239	C	T	150259239	3	4	58	1	0	0	0	0	1	0	0	0	2063	838	29	2	1049	2	C1orf51	1	150259239	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	127791	150259239	98991382	54	10646											
POGZ	23126	broad.mit.edu	37	chr1	151377284	151377284	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgaccccaacactcaaatCtccatcagatctaggtcagc	13	8	5	15	0	5	2	3	1	2	1	6	2	5	2	3	1	2	0	3	1	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:151377284C>G	ENST00000271715.2	-	19	4541	c.4227G>C	c.(4225-4227)gaG>gaC	p.E1409D	POGZ_ENST00000368863.2_Missense_Mutation_p.E1314D|POGZ_ENST00000540984.1_Missense_Mutation_p.E771D|POGZ_ENST00000531094.1_Missense_Mutation_p.E1347D|POGZ_ENST00000491586.1_Missense_Mutation_p.E1365D|POGZ_ENST00000392723.1_Missense_Mutation_p.E1356D|POGZ_ENST00000409503.1_Missense_Mutation_p.E1400D|POGZ_ENST00000361398.3_Missense_Mutation_p.E1356D	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1409					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACACTCAAATCTCCATCAGAT	0.507											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	34	73					0	0	0	0	G	151377284	C	G	151377284	3	3	58	1	0	0	0	0	1	0	0	0	12258	912	32	2	9	2	POGZ	1	151377284	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1118045	151377284	97873337	55	10647											
CGN	57530	broad.mit.edu	37	chr1	151491282	151491282	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctcaggagctctgagctCagatttggaactccctgaga	9	9	12	11	0	3	3	2	2	1	2	4	6	4	5	2	3	3	2	2	3	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:151491282C>G	ENST00000271636.7	+	2	420	c.287C>G	c.(286-288)tCa>tGa	p.S96*		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	90	Head.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCTGAGCTCAGATTTGGAA	0.577													26	53					0	0	0	0	G	151491282	C	G	151491282	4	3	58	1	0	0	0	0	0	1	0	0	3332	838	29	2	289	2	CGN	1	151491282	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	113998	151491282	97759339	56	10648											
FLG	2312	broad.mit.edu	37	chr1	152281432	152281432	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctgtgtgacgagtgcctGattgtctggagctgtctgca	6	13	13	9	1	3	2	0	2	3	0	3	4	3	3	1	1	3	2	1	1	0	1	rs140980397		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152281432G>C	ENST00000368799.1	-	3	5965	c.5930C>G	c.(5929-5931)tCa>tGa	p.S1977*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1977	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGAGTGCCTGATTGTCTGGA	0.572									Ichthyosis				278	517					0	0	0	0	C	152281432	G	C	152281432	4	2	58	1	0	0	0	0	0	1	0	0	5967	1294	45	2	6259	2	FLG	1	152281432	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	790150	152281432	96969189	57	10649											
FLG	2312	broad.mit.edu	37	chr1	152281579	152281579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacctctcagagtcttctGagtgtccctgactgtcactg	7	12	8	14	0	4	3	2	2	3	1	6	3	5	3	3	0	0	0	3	0	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152281579G>A	ENST00000368799.1	-	3	5818	c.5783C>T	c.(5782-5784)tCa>tTa	p.S1928L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1928	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGTCTTCTGAGTGTCCCTG	0.567									Ichthyosis				197	355					0	0	0	0	A	152281579	G	A	152281579	3	1	58	1	0	0	0	0	1	0	0	0	5967	1294	45	2	6406	2	FLG	1	152281579	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	147	152281579	96969042	58	10650											
FLG	2312	broad.mit.edu	37	chr1	152286936	152286936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccctgtttctcttgggctCttggatcttcccttattccc	2	17	6	16	0	3	0	0	0	3	0	6	1	5	1	4	2	0	2	4	2	1	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152286936C>G	ENST00000368799.1	-	3	461	c.426G>C	c.(424-426)aaG>aaC	p.K142N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	142					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTGGGCTCTTGGATCTTC	0.348									Ichthyosis				88	208					0	0	0	0	G	152286936	C	G	152286936	3	3	58	1	0	0	0	0	1	0	0	0	5967	912	32	2	11763	2	FLG	1	152286936	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5357	152286936	96963685	59	10651											
FLG	2312	broad.mit.edu	37	chr1	152286973	152286973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccttttctattgtttcttCtttccagacttgagggtctt	4	21	6	10	0	4	2	0	1	4	1	6	2	6	2	2	1	0	1	2	1	1	9			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152286973C>G	ENST00000368799.1	-	3	424	c.389G>C	c.(388-390)aGa>aCa	p.R130T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	130					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGTTTCTTCTTTCCAGACT	0.373									Ichthyosis				84	198					0	0	0	0	G	152286973	C	G	152286973	3	3	58	1	0	0	0	0	1	0	0	0	5967	913	32	2	11800	2	FLG	1	152286973	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	37	152286973	96963648	60	10652											
UBAP2L	9898	broad.mit.edu	37	chr1	154197669	154197669	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaaccaaaaccagacaCagcacaagcagcggccacag	18	1	7	15	1	1	1	1	0	0	1	1	1	1	1	3	1	5	2	3	1	5	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:154197669C>T	ENST00000428931.1	+	2	237	c.70C>T	c.(70-72)Cag>Tag	p.Q24*	UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.Q24*|UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.Q24*|UBAP2L_ENST00000361546.2_Nonsense_Mutation_p.Q24*	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	24					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAACCAGACACAGCACAAGCA	0.453													6	66					0	0	0	0	T	154197669	C	T	154197669	4	4	58	1	0	0	0	0	0	1	0	0	16934	479	17	4	72	4	UBAP2L	1	154197669	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1910696	154197669	95052952	61	10653											
UBAP2L	9898	broad.mit.edu	37	chr1	154223669	154223669	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccacctccgtcttctcctCtgccaagcaaatccacatcg	8	10	4	19	2	3	0	0	0	3	0	8	0	6	0	6	0	2	1	6	0	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:154223669C>T	ENST00000428931.1	+	13	1533	c.1366C>T	c.(1366-1368)Ctg>Ttg	p.L456L	UBAP2L_ENST00000271877.7_Silent_p.L467L|UBAP2L_ENST00000343815.6_Silent_p.L456L|UBAP2L_ENST00000361546.2_Silent_p.L456L	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	456					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTCTTCTCCTCTGCCAAGCAA	0.547													88	142					0	0	0	0	T	154223669	C	T	154223669	2	4	58	1	0	0	0	0	0	0	0	1	16934	912	32	2		2	UBAP2L	1	154223669	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	26000	154223669	95026952	62	10654											
IL6R	3570	broad.mit.edu	37	chr1	154427027	154427027	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggagggagcctggccttcgGaacgctcctctgcattgcca	6	9	13	13	2	1	0	0	0	1	0	3	3	2	3	4	4	4	2	4	4	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:154427027G>C	ENST00000368485.3	+	9	1567	c.1130G>C	c.(1129-1131)gGa>gCa	p.G377A	IL6R_ENST00000344086.4_Intron|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	377					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGCCTTCGGAACGCTCCTC	0.483													17	44					0	0	0	0	C	154427027	G	C	154427027	3	2	58	1	0	0	0	0	1	0	0	0	7755	1174	41	2	1164	2	IL6R	1	154427027	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	203358	154427027	94823594	63	10655											
ADAM15	8751	broad.mit.edu	37	chr1	155034448	155034448	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacccggtggtgagaagcccGaaggtaacggtggggggaga	10	4	20	7	3	0	2	0	1	0	2	0	6	0	2	2	7	2	1	2	7	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:155034448G>A	ENST00000356955.2	+	21	2522	c.2421G>A	c.(2419-2421)ccG>ccA	p.P807P	ADAM15_ENST00000449910.2_Silent_p.P806P|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000359280.4_Silent_p.P782P|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000531455.1_Intron|ADAM15_ENST00000472434.1_3'UTR	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	807					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGAGAAGCCCGAAGGTAACGG	0.677											OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97	141					0	0	0	0	A	155034448	G	A	155034448	2	1	58	1	0	0	0	0	0	0	0	1	237	1045	37	1		1	ADAM15	1	155034448	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	607421	155034448	94216173	64	10656											
CD1C	911	broad.mit.edu	37	chr1	158262651	158262651	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtctaggaggccaggacatCatcctctactggggtaagac	11	8	12	10	0	3	1	1	0	2	1	4	3	4	3	2	5	1	1	2	5	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:158262651C>T	ENST00000368170.3	+	4	1155	c.876C>T	c.(874-876)atC>atT	p.I292I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	292	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GCCAGGACATCATCCTCTACT	0.527													12	45					0	0	0	0	T	158262651	C	T	158262651	2	4	58	1	0	0	0	0	0	0	0	1	3005	816	29	2		2	CD1C	1	158262651	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3228203	158262651	90987970	65	10657											
SPTA1	6708	broad.mit.edu	37	chr1	158621223	158621223	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcatcagctaccttgttGatatcccttagccgaggctc	9	12	8	12	1	2	2	2	1	0	1	4	3	3	2	3	1	3	3	3	1	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:158621223G>C	ENST00000368148.3	-	24	3591	c.3411C>G	c.(3409-3411)atC>atG	p.I1137M	SPTA1_ENST00000368147.3_Missense_Mutation_p.I1137M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1137					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTACCTTGTTGATATCCCTTA	0.438													98	183					0	0	0	0	C	158621223	G	C	158621223	3	2	58	1	0	0	0	0	1	0	0	0	15206	1280	45	2	3964	2	SPTA1	1	158621223	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	358572	158621223	90629398	66	10658											
MNDA	4332	broad.mit.edu	37	chr1	158812162	158812162	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacttgccaaagatatgccAtcacttaaaaaccttgttaa	16	11	5	9	0	1	1	1	0	0	1	1	2	1	1	3	0	4	1	3	0	7	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:158812162A>G	ENST00000368141.4	+	2	480	c.219A>G	c.(217-219)ccA>ccG	p.P73P	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	73	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAGATATGCCATCACTTAAAA	0.373													50	112					0	0	0	0	G	158812162	A	G	158812162	2	3	58	1	0	0	0	0	0	0	0	1	9746	204	8	5		5	MNDA	1	158812162	Silent	SNP	A	TCGA-CN-4723-01A-01D-1434-08	190939	158812162	90438459	67	10659											
ATP1A2	477	broad.mit.edu	37	chr1	160106385	160106385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccaggcactgggtggcttCttcacctactttgtgatcct	6	14	9	12	0	2	1	1	1	1	0	4	1	4	1	3	3	1	2	3	3	1	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:160106385C>G	ENST00000361216.3	+	19	2678	c.2589C>G	c.(2587-2589)ttC>ttG	p.F863L	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.F863L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	863					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGGTGGCTTCTTCACCTACT	0.602													25	111					0	0	0	0	G	160106385	C	G	160106385	3	3	58	1	0	0	0	0	1	0	0	0	1133	912	32	2	2663	2	ATP1A2	1	160106385	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1294223	160106385	89144236	68	10660											
FCGR3A	2214	broad.mit.edu	37	chr1	161512965	161512965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtacccaggtggaaagaatGatgagatggttgacactgcc	12	8	14	7	0	0	4	0	3	0	2	0	6	0	5	2	4	2	2	2	4	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:161512965G>A	ENST00000367969.3	-	5	893	c.710C>T	c.(709-711)tCa>tTa	p.S237L	FCGR3A_ENST00000540048.1_Missense_Mutation_p.S201L|FCGR3A_ENST00000436743.1_Missense_Mutation_p.S201L|FCGR3A_ENST00000443193.1_Missense_Mutation_p.S236L	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	201					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGAAAGAATGATGAGATGGT	0.423													42	72					0	0	0	0	A	161512965	G	A	161512965	3	1	58	1	0	0	0	0	1	0	0	0	5829	1294	45	2	166	2	FCGR3A	1	161512965	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1406580	161512965	87737656	69	10661											
DCAF6	55827	broad.mit.edu	37	chr1	168014243	168014243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagaagaatctgcttcatCtgaaaaagccaaggaaccag	16	7	8	10	0	3	3	1	1	2	2	4	4	4	4	3	1	3	1	3	1	6	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:168014243C>G	ENST00000367840.3	+	16	2130	c.2036C>G	c.(2035-2037)tCt>tGt	p.S679C	DCAF6_ENST00000312263.6_Missense_Mutation_p.S602C|DCAF6_ENST00000367843.3_Missense_Mutation_p.S622C|DCAF6_ENST00000432587.2_Missense_Mutation_p.S648C	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	603	IQ.				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCTGCTTCATCTGAAAAAGCC	0.443													24	168					0	0	0	0	G	168014243	C	G	168014243	3	3	58	1	0	0	0	0	1	0	0	0	4307	913	32	2	1923	2	DCAF6	1	168014243	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6501278	168014243	81236378	70	10662											
GPR161	23432	broad.mit.edu	37	chr1	168065809	168065809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgttgcacaaatggttcccGataataccggtccccaaagc	11	9	8	13	3	0	0	0	0	0	0	3	1	2	0	4	2	3	3	4	2	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:168065809G>A	ENST00000367838.1	-	5	1349	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	GPR161_ENST00000271357.5_Missense_Mutation_p.R346W|GPR161_ENST00000361697.2_Missense_Mutation_p.R346W|GPR161_ENST00000537209.1_Missense_Mutation_p.R366W|GPR161_ENST00000539777.1_Missense_Mutation_p.R268W|GPR161_ENST00000367836.1_Missense_Mutation_p.R214W|GPR161_ENST00000546300.1_Missense_Mutation_p.R232W|GPR161_ENST00000367835.1_Missense_Mutation_p.R346W	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	346					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AATGGTTCCCGATAATACCGG	0.527													44	66					0	0	0	0	A	168065809	G	A	168065809	3	1	58	1	0	0	0	0	1	0	0	0	6714	1057	37	1	569	1	GPR161	1	168065809	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	51566	168065809	81184812	71	10663											
TIPRL	261726	broad.mit.edu	37	chr1	168160697	168160697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttctcctttttgaggatGaacttcatgatcatggagtt	10	16	9	6	0	3	3	2	3	1	0	4	5	3	5	1	2	1	2	1	2	2	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:168160697G>A	ENST00000367833.2	+	4	620	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	TIPRL_ENST00000367830.3_Missense_Mutation_p.E159K	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	159					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TTTTGAGGATGAACTTCATGA	0.299													22	170					0	0	0	0	A	168160697	G	A	168160697	3	1	58	1	0	0	0	0	1	0	0	0	16020	1291	45	2	489	2	TIPRL	1	168160697	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	94888	168160697	81089924	72	10664											
DARS2	55157	broad.mit.edu	37	chr1	173795878	173795878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggagagttgcgttcgtctCacttaggccaagaagtcacc	9	10	12	10	2	2	2	2	0	1	2	4	3	2	2	2	2	1	2	2	2	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:173795878C>T	ENST00000361951.4	+	2	908	c.181C>T	c.(181-183)Cac>Tac	p.H61Y	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	61					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GCGTTCGTCTCACTTAGGCCA	0.388													18	134					0	0	0	0	T	173795878	C	T	173795878	3	4	58	1	0	0	0	0	1	0	0	0	4275	826	29	2	187	2	DARS2	1	173795878	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5635181	173795878	75454743	73	10665											
PAPPA2	60676	broad.mit.edu	37	chr1	176564298	176564298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaatggatactggccccttCggggagagaaggtgatacgc	11	7	14	9	2	0	2	0	1	0	1	1	5	0	4	2	5	2	0	2	5	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:176564298C>T	ENST00000367662.3	+	3	2722	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R520W	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	520	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R520G(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGGCCCCTTCGGGGAGAGAA	0.537													32	50					0	0	0	0	T	176564298	C	T	176564298	3	4	58	1	0	0	0	0	1	0	0	0	11504	875	31	1	1564	1	PAPPA2	1	176564298	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2768420	176564298	72686323	74	10666											
LHX4	89884	broad.mit.edu	37	chr1	180243597	180243597	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggagtaagccagacgctGagagccatggctgggggacc	10	4	17	10	1	0	2	0	1	0	2	0	5	0	4	3	4	2	3	3	4	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:180243597G>C	ENST00000263726.2	+	6	1300	c.1056G>C	c.(1054-1056)ctG>ctC	p.L352L	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	352						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCCAGACGCTGAGAGCCATGG	0.572													46	296					0	0	0	0	C	180243597	G	C	180243597	2	2	58	1	0	0	0	0	0	0	0	1	8827	1277	45	2		2	LHX4	1	180243597	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3679299	180243597	69007024	75	10667											
KIF14	9928	broad.mit.edu	37	chr1	200534687	200534687	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctatagttctttcttcatCataactctgtccaaaaaaat	13	16	3	9	0	5	0	2	0	3	0	6	0	6	0	1	0	2	2	1	0	6	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:200534687C>G	ENST00000367350.4	-	24	4210	c.3772G>C	c.(3772-3774)Gat>Cat	p.D1258H		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1258	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTTTCTTCATCATAACTCTGT	0.333													6	116					0	0	0	0	G	200534687	C	G	200534687	3	3	58	1	0	0	0	0	1	0	0	0	8327	826	29	2	1202	2	KIF14	1	200534687	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	20291090	200534687	48715934	76	10668											
KIF21B	23046	broad.mit.edu	37	chr1	200960823	200960823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaccatctcctgctgccGcttctgggactccagagctc	6	9	10	16	1	2	1	0	0	2	1	5	3	3	3	4	2	3	3	4	2	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:200960823G>A	ENST00000332129.2	-	17	2732	c.2416C>T	c.(2416-2418)Cgg>Tgg	p.R806W	KIF21B_ENST00000422435.2_Missense_Mutation_p.R806W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R806W|KIF21B_ENST00000461742.2_Missense_Mutation_p.R806W	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	806					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCCTGCTGCCGCTTCTGGGAC	0.617													22	38					0	0	0	0	A	200960823	G	A	200960823	3	1	58	1	0	0	0	0	1	0	0	0	8340	1086	38	1	2530	1	KIF21B	1	200960823	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	426136	200960823	48289798	77	10669											
KLHL12	59349	broad.mit.edu	37	chr1	202861736	202861736	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcacgacttcccagctgtcGatgatagggtcataacattc	10	11	9	11	2	2	1	2	1	0	0	5	3	3	1	1	1	2	1	1	1	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:202861736G>A	ENST00000367261.3	-	12	1850	c.1632C>T	c.(1630-1632)atC>atT	p.I544I	KLHL12_ENST00000367259.1_3'UTR|KLHL12_ENST00000435533.3_Silent_p.I582I	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	544	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCAGCTGTCGATGATAGGGT	0.488													12	105					0	0	0	0	A	202861736	G	A	202861736	2	1	58	1	0	0	0	0	0	0	0	1	8420	1048	37	1		1	KLHL12	1	202861736	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1900913	202861736	46388885	78	10670											
TMCC2	9911	broad.mit.edu	37	chr1	205210816	205210816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgctctccggagatgcatCgcgtctcctacgccatgtcc	6	9	10	16	5	2	1	0	0	2	1	6	2	3	1	4	1	3	2	4	1	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:205210816C>T	ENST00000358024.3	+	2	780	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	TMCC2_ENST00000545499.1_Missense_Mutation_p.R53C|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	131						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGAGATGCATCGCGTCTCCTA	0.657													25	27					0	0	0	0	T	205210816	C	T	205210816	3	4	58	1	0	0	0	0	1	0	0	0	16087	884	31	1	397	1	TMCC2	1	205210816	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2349080	205210816	44039805	79	10671											
FAIM3	9214	broad.mit.edu	37	chr1	207087216	207087216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctgtgttacctccactagGaacagattcttgcgtgggta	9	12	11	9	1	1	1	0	0	1	1	2	2	2	2	2	2	4	3	2	2	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:207087216G>C	ENST00000367091.3	-	2	404	c.261C>G	c.(259-261)ttC>ttG	p.F87L	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.F87L	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	87	Ig-like.				anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CCTCCACTAGGAACAGATTCT	0.522													6	181					0	0	0	0	C	207087216	G	C	207087216	3	2	58	1	0	0	0	0	1	0	0	0	5418	1165	41	2	939	2	FAIM3	1	207087216	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1876400	207087216	42163405	80	10672											
PLXNA2	5362	broad.mit.edu	37	chr1	208218433	208218433	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaccttgtgctgcccggtGaggttgggaggctcgcagag	6	9	17	9	2	0	3	0	2	0	1	1	4	0	4	2	4	2	4	2	4	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:208218433G>A	ENST00000367033.3	-	19	4375	c.3618C>T	c.(3616-3618)ctC>ctT	p.L1206L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1206	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCTGCCCGGTGAGGTTGGGAG	0.577													5	104					0	0	0	0	A	208218433	G	A	208218433	2	1	58	1	0	0	0	0	0	0	0	1	12192	1277	45	2		2	PLXNA2	1	208218433	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1131217	208218433	41032188	81	10673											
USH2A	7399	broad.mit.edu	37	chr1	216498758	216498758	+	Frame_Shift_Del	DEL	A	A	-																															ccaacatcattatcattgacAaaagagagaggatgggcttc																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:216498758delA	ENST00000366943.2	-	6	1418	c.1032delT	c.(1030-1032)ttfs	p.F344fs	USH2A_ENST00000366942.3_Frame_Shift_Del_p.F344fs|USH2A_ENST00000307340.3_Frame_Shift_Del_p.F344fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	344	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATCATTGACAAAAGAGAGAG	0.408										HNSCC(13;0.011)			48	116	---	---	---	---					-	216498758	A	-	216498758	7	5	58	1	0	1	0	1	0	0	0	0	17132	127	5	0	14858	0	USH2A	1	216498758	Frame_Shift_Del	DEL	A	TCGA-CN-4723-01A-01D-1434-08	8280325	216498758	32751863	82	10674											
GPATCH2	55105	broad.mit.edu	37	chr1	217783737	217783737	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgactgagtctagcttGgaaacctgtaaaatcaaagt	15	9	10	7	1	2	1	1	1	1	0	2	3	2	2	1	2	2	2	1	2	6	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:217783737G>A	ENST00000366935.3	-	5	1134	c.1024C>T	c.(1024-1026)Caa>Taa	p.Q342*	GPATCH2_ENST00000366934.3_Nonsense_Mutation_p.Q342*	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	342						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AGTCTAGCTTGGAAACCTGTA	0.348													20	130					0	0	0	0	A	217783737	G	A	217783737	4	1	58	1	0	0	0	0	0	1	0	0	6640	1357	47	4	586	4	GPATCH2	1	217783737	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1284979	217783737	31466884	83	10675											
DUSP10	11221	broad.mit.edu	37	chr1	221912637	221912637	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgccaagtcattggggtaGattattttgatgctggctag	8	16	12	5	0	1	2	1	1	0	1	1	2	1	2	1	3	2	3	1	3	4	7	rs35391196		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:221912637G>C	ENST00000366899.3	-	2	688	c.450C>G	c.(448-450)atC>atG	p.I150M	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	150					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CATTGGGGTAGATTATTTTGA	0.512													5	123					0	0	0	0	C	221912637	G	C	221912637	3	2	58	1	0	0	0	0	1	0	0	0	4846	932	33	2	1010	2	DUSP10	1	221912637	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4128900	221912637	27337984	84	10676											
DISC1	27185	broad.mit.edu	37	chr1	231830436	231830436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctggatccctcactggctgGctgtggtggtgatgggagca	5	11	16	9	0	2	1	1	1	1	0	3	3	3	3	1	6	1	3	1	6	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:231830436G>T	ENST00000439617.2	+	2	985	c.932G>T	c.(931-933)gGc>gTc	p.G311V	DISC1_ENST00000602281.1_Missense_Mutation_p.G311V|DISC1_ENST00000317586.4_Missense_Mutation_p.G311V|DISC1_ENST00000366636.4_Missense_Mutation_p.G311V|DISC1_ENST00000539444.1_Missense_Mutation_p.G311V|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Missense_Mutation_p.G311V|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.G311V|DISC1_ENST00000535983.1_Missense_Mutation_p.G311V|DISC1_ENST00000366637.3_5'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	311	Interaction with TRAF3IP1.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TCACTGGCTGGCTGTGGTGGT	0.617													16	87					6.49762e-13	6.82472e-13	1	0	T	231830436	G	T	231830436	3	4	58	1	0	0	0	0	1	0	0	0	4575	1203	42	4	938	4	DISC1	1	231830436	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	9917799	231830436	17420185	85	10677											
SIPA1L2	57568	broad.mit.edu	37	chr1	232601014	232601014	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcgagtggccattgctcGaaacttttctgatttatggg	7	15	11	8	3	1	1	0	1	1	0	3	3	1	1	1	2	2	2	1	2	2	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:232601014G>T	ENST00000366630.1	-	8	2750	c.2392C>A	c.(2392-2394)Cga>Aga	p.R798R	SIPA1L2_ENST00000262861.4_Silent_p.R798R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	798	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.R798*(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCCATTGCTCGAAACTTTTCT	0.468													30	194					2.47316e-13	2.6021e-13	1	0	T	232601014	G	T	232601014	2	4	58	1	0	0	0	0	0	0	0	1	14418	1066	37	3		3	SIPA1L2	1	232601014	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	770578	232601014	16649607	86	10678											
ERO1LB	56605	broad.mit.edu	37	chr1	236416724	236416724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattttatttattatacctCtggacagggctccacatgac	10	16	6	9	0	1	1	0	1	1	0	2	2	2	2	2	2	1	1	2	2	5	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:236416724C>G	ENST00000354619.5	-	3	505	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	ERO1LB_ENST00000327333.8_Missense_Mutation_p.E102Q	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	102					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	p.E102K(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TATTATACCTCTGGACAGGGC	0.383													22	34					0	0	0	0	G	236416724	C	G	236416724	3	3	58	1	0	0	0	0	1	0	0	0	5278	922	32	2	1155	2	ERO1LB	1	236416724	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3815710	236416724	12833897	87	10679											
HEATR1	55127	broad.mit.edu	37	chr1	236719107	236719107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtgaacctgagcttacctCagagtgctgggctcggaagt	9	9	14	9	1	1	3	1	2	0	1	2	5	1	4	2	2	4	3	2	2	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:236719107C>T	ENST00000366582.3	-	39	5761	c.5647G>A	c.(5647-5649)Gag>Aag	p.E1883K	HEATR1_ENST00000366581.2_Missense_Mutation_p.E1802K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1883					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GAGCTTACCTCAGAGTGCTGG	0.493													11	217					0	0	0	0	T	236719107	C	T	236719107	3	4	58	1	0	0	0	0	1	0	0	0	7077	835	29	2	815	2	HEATR1	1	236719107	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	302383	236719107	12531514	88	10680											
CEP170	9859	broad.mit.edu	37	chr1	243319598	243319598	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatccggtgtttgaatgaaGaactagtaggcattgctgat	12	13	11	5	1	0	4	0	3	0	1	1	4	1	4	1	2	2	4	1	2	6	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:243319598G>C	ENST00000366542.1	-	14	3887	c.3836C>G	c.(3835-3837)tCt>tGt	p.S1279C	CEP170_ENST00000366544.1_Missense_Mutation_p.S1181C|CEP170_ENST00000481987.1_Missense_Mutation_p.S5C|CEP170_ENST00000490813.1_Missense_Mutation_p.S5C|CEP170_ENST00000366543.1_Missense_Mutation_p.S1145C	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1279	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTGAATGAAGAACTAGTAGG	0.463													3	20					0	0	0	0	C	243319598	G	C	243319598	3	2	58	1	0	0	0	0	1	0	0	0	3279	942	33	2	976	2	CEP170	1	243319598	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	6600491	243319598	5931023	89	10681											
CEP170	9859	broad.mit.edu	37	chr1	243362377	243362377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttacctgatgttccagcttCatggtttttttcttcaggtt	5	21	7	8	0	3	1	2	1	1	0	4	1	4	1	2	2	2	4	2	2	1	9			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:243362377C>T	ENST00000366542.1	-	7	667	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	CEP170_ENST00000366544.1_Missense_Mutation_p.E206K|CEP170_ENST00000366543.1_Missense_Mutation_p.E206K	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	206						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTTCCAGCTTCATGGTTTTTT	0.403													4	35					0	0	0	0	T	243362377	C	T	243362377	3	4	58	1	0	0	0	0	1	0	0	0	3279	835	29	2	4224	2	CEP170	1	243362377	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	42779	243362377	5888244	90	10682											
SDCCAG8	10806	broad.mit.edu	37	chr1	243504340	243504340	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttttattttcccttacaGatgttgatcttgtctcagaa	9	18	6	8	0	2	3	1	1	2	2	4	4	3	3	1	0	1	1	1	0	3	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:243504340G>A	ENST00000366541.3	+	11	1339		c.e11-1		SDCCAG8_ENST00000355875.4_Splice_Site|SDCCAG8_ENST00000343783.6_Splice_Site	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8						establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTCCCTTACAGATGTTGATCT	0.358													9	101					0	0	0	0	A	243504340	G	A	243504340	5	1	58	1	0	0	0	0	0	0	1	0	14046	956	33	2	1263	2	SDCCAG8	1	243504340	Splice_Site	SNP	G	TCGA-CN-4723-01A-01D-1434-08	141963	243504340	5746281	91	10683											
OR2T3	343173	broad.mit.edu	37	chr1	248637600	248637600	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagtcaagaatgaaccaaGaaaagtagtaaagggcaagc	19	5	11	6	0	1	3	1	1	0	2	1	3	1	3	1	1	3	4	1	1	10	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:248637600G>C	ENST00000359594.2	+	1	974	c.949G>C	c.(949-951)Gaa>Caa	p.E317Q		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATGAACCAAGAAAAGTAGTA	0.502													101	353					0	0	0	0	C	248637600	G	C	248637600	3	2	58	1	0	0	0	0	1	0	0	0	11094	943	33	2	951	2	OR2T3	1	248637600	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	5133260	248637600	613021	92	10684											
PXDN	7837	broad.mit.edu	37	chr2	1647338	1647338	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagaacaccccagggttctCataccacaacctggatcccc	11	6	8	16	0	1	1	1	0	1	1	3	3	2	2	6	3	3	1	6	3	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:1647338C>G	ENST00000252804.4	-	19	3804	c.3754G>C	c.(3754-3756)Gag>Cag	p.E1252Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1252					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCAGGGTTCTCATACCACAAC	0.557													29	74					0	0	0	0	G	1647338	C	G	1647338	3	3	58	1	0	0	0	0	1	0	0	0	12929	835	29	2	705	2	PXDN	2	1647338	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08		1647338	241552035	93	10685											
GRHL1	29841	broad.mit.edu	37	chr2	10098934	10098934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttccaagagagagaaggtCatcaacagcaaagccagagg	16	4	13	8	0	2	3	2	0	0	3	3	5	3	3	2	3	3	2	2	3	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:10098934C>T	ENST00000324907.9	+	3	363	c.227C>T	c.(226-228)tCa>tTa	p.S76L	GRHL1_ENST00000405379.2_Missense_Mutation_p.S76L|GRHL1_ENST00000324883.5_5'UTR	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	76	Transcription activation.				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GAGAGAAGGTCATCAACAGCA	0.443													15	46					0	0	0	0	T	10098934	C	T	10098934	3	4	58	1	0	0	0	0	1	0	0	0	6813	838	29	2	237	2	GRHL1	2	10098934	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	8451596	10098934	233100439	94	10686											
DDX1	1653	broad.mit.edu	37	chr2	15768620	15768620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtagctgctagaggaattGatatccacggtgttccttat	10	14	10	7	1	0	2	0	1	0	1	2	3	2	3	2	2	2	4	2	2	5	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:15768620G>T	ENST00000381341.2	+	22	2127	c.1738G>T	c.(1738-1740)Gat>Tat	p.D580Y	DDX1_ENST00000233084.3_Missense_Mutation_p.D580Y			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	580	Helicase C-terminal.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TAGAGGAATTGATATCCACGG	0.343													35	126					4.0492e-12	4.24218e-12	1	0	T	15768620	G	T	15768620	3	4	58	1	0	0	0	0	1	0	0	0	4373	1290	45	2	1820	2	DDX1	2	15768620	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	5669686	15768620	227430753	95	10687											
GEN1	348654	broad.mit.edu	37	chr2	17947933	17947933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttggattagcaatacttCttggctgtgattatctccca	8	16	9	8	0	2	1	0	1	2	0	3	2	2	2	1	3	2	3	1	3	4	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:17947933C>T	ENST00000381254.2	+	5	827	c.613C>T	c.(613-615)Ctt>Ttt	p.L205F	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.L205F	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	205	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCAATACTTCTTGGCTGTGA	0.338								Homologous recombination					23	95					0	0	0	0	T	17947933	C	T	17947933	3	4	58	1	0	0	0	0	1	0	0	0	6386	913	32	2	627	2	GEN1	2	17947933	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2179313	17947933	225251440	96	10688											
HS1BP3	64342	broad.mit.edu	37	chr2	20818831	20818831	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctcgtccatggcttggatCtgctcctgcggcttctgctg	3	14	11	13	2	3	0	0	0	3	0	6	1	5	1	2	3	3	4	2	3	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:20818831C>T	ENST00000304031.3	-	7	1120	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	365					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCTTGGATCTGCTCCTGCG	0.622													22	85					0	0	0	0	T	20818831	C	T	20818831	2	4	58	1	0	0	0	0	0	0	0	1	7411	912	32	2		2	HS1BP3	2	20818831	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2870898	20818831	222380542	97	10689											
ITSN2	50618	broad.mit.edu	37	chr2	24440837	24440837	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aacaaaaatcagggccatctCcccttcagtgagaaagcctg	14	7	8	12	0	3	1	2	1	1	1	4	2	3	1	4	1	2	0	4	1	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:24440837C>G	ENST00000355123.4	-	31	4188	c.3745G>C	c.(3745-3747)Gag>Cag	p.E1249Q	ITSN2_ENST00000361999.3_Missense_Mutation_p.E1222Q|AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000430105.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1249	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGCCATCTCCCCTTCAGTG	0.463													35	84					0	0	0	0	G	24440837	C	G	24440837	3	3	58	1	0	0	0	0	1	0	0	0	7980	864	30	2	1388	2	ITSN2	2	24440837	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3622006	24440837	218758536	98	10690											
NCOA1	8648	broad.mit.edu	37	chr2	24985573	24985573	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagataaatgatcccgcactGagacacacaggcctctactg	13	8	8	12	1	1	3	0	2	1	2	2	4	2	3	2	1	1	1	2	1	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:24985573G>A	ENST00000405141.1	+	23	4794	c.4083G>A	c.(4081-4083)ctG>ctA	p.L1361L	NCOA1_ENST00000348332.3_Silent_p.L1361L|NCOA1_ENST00000395856.3_Silent_p.L1361L|NCOA1_ENST00000288599.5_Silent_p.L1361L|NCOA1_ENST00000407230.1_Silent_p.L1210L|NCOA1_ENST00000406961.1_Silent_p.L1361L|NCOA1_ENST00000538539.1_Silent_p.L1361L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1361									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCGCACTGAGACACACAG	0.398			T	PAX3	alveolar rhadomyosarcoma								19	358					0	0	0	0	A	24985573	G	A	24985573	2	1	58	1	0	0	0	0	0	0	0	1	10298	1277	45	2		2	NCOA1	2	24985573	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	544736	24985573	218213800	99	10691											
DNMT3A	1788	broad.mit.edu	37	chr2	25472531	25472531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccatcctttcaccgtatCacactcgtctttcaggctac	7	13	4	17	2	4	0	3	0	1	0	7	0	6	0	4	1	1	2	4	1	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:25472531C>T	ENST00000380746.4	-	2	180	c.67G>A	c.(67-69)Gat>Aat	p.D23N	DNMT3A_ENST00000321117.5_Intron|DNMT3A_ENST00000402667.1_Intron|DNMT3A_ENST00000264709.3_Intron	NM_153759.3	NP_715640.2	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	63					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCACCGTATCACACTCGTCT	0.498			"Mis, F, N, S"		AML								20	73					0	0	0	0	T	25472531	C	T	25472531	3	4	58	1	0	0	0	0	1	0	0	0	4712	826	29	2	2176	2	DNMT3A	2	25472531	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	486958	25472531	217726842	100	10692											
EMILIN1	11117	broad.mit.edu	37	chr2	27305913	27305913	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctggggagcaggactctCaagtcagcgagatcctcagt	9	7	12	13	1	3	1	3	0	1	1	5	4	4	3	3	3	2	1	3	3	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:27305913C>G	ENST00000380320.4	+	4	1973	c.1474C>G	c.(1474-1476)Caa>Gaa	p.Q492E		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	492					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGACTCTCAAGTCAGCGA	0.692													5	16					0	0	0	0	G	27305913	C	G	27305913	3	3	58	1	0	0	0	0	1	0	0	0	5131	827	29	2	1488	2	EMILIN1	2	27305913	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1833382	27305913	215893460	101	10693											
SLC30A3	7781	broad.mit.edu	37	chr2	27481696	27481696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccgtgcatgcagcctctCaggggtaaggcccggcggcg	5	6	15	15	4	1	0	1	0	1	0	3	0	2	0	4	5	3	3	4	5	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:27481696C>G	ENST00000233535.4	-	2	554	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	SLC30A3_ENST00000447008.2_Missense_Mutation_p.E63Q	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	68					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGCCTCTCAGGGGTAAGG	0.622													16	45					0	0	0	0	G	27481696	C	G	27481696	3	3	58	1	0	0	0	0	1	0	0	0	14644	835	29	2	992	2	SLC30A3	2	27481696	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	175783	27481696	215717677	102	10694											
KRTCAP3	200634	broad.mit.edu	37	chr2	27665754	27665754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctggcgtccaggaaccttCttcgccctccactggtgaga	6	10	10	15	2	1	1	0	1	1	1	5	3	4	2	5	3	1	0	5	3	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:27665754C>T	ENST00000543753.1	+	3	306	c.259C>T	c.(259-261)Ctt>Ttt	p.L87F	KRTCAP3_ENST00000288873.3_Missense_Mutation_p.L87F|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.L69F	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	87						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					CAGGAACCTTCTTCGCCCTCC	0.592													32	47					0	0	0	0	T	27665754	C	T	27665754	3	4	58	1	0	0	0	0	1	0	0	0	8632	913	32	2	269	2	KRTCAP3	2	27665754	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	184058	27665754	215533619	103	10695											
PLB1	151056	broad.mit.edu	37	chr2	28741373	28741373	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccatgcaacccaaataaatTaggagtgaatatgccttcta	15	10	6	10	0	1	1	0	1	1	0	1	2	1	2	3	1	3	1	3	1	8	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:28741373T>C	ENST00000422425.2	+	3	202	c.158T>C	c.(157-159)tTa>tCa	p.L53S	PLB1_ENST00000327757.5_Missense_Mutation_p.L53S	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	53	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCAAATAAATTAGGAGTGAAT	0.443													61	127					0	0	0	0	C	28741373	T	C	28741373	3	2	58	1	0	0	0	0	1	0	0	0	12096	1764	61	5	168	5	PLB1	2	28741373	Missense_Mutation	SNP	T	TCGA-CN-4723-01A-01D-1434-08	1075619	28741373	214458000	104	10696											
RASGRP3	25780	broad.mit.edu	37	chr2	33752314	33752314	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccatccttggagtacacttGaaagacttgatagctgtcca	11	11	8	11	0	0	3	0	2	0	1	2	4	2	4	3	1	2	2	3	1	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:33752314G>A	ENST00000403687.3	+	10	1658	c.918G>A	c.(916-918)ttG>ttA	p.L306L	RASGRP3_ENST00000402538.3_Silent_p.L306L|RASGRP3_ENST00000407811.1_Silent_p.L306L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	306	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GAGTACACTTGAAAGACTTGA	0.473													10	58					0	0	0	0	A	33752314	G	A	33752314	2	1	58	1	0	0	0	0	0	0	0	1	13158	1281	45	2		2	RASGRP3	2	33752314	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	5010941	33752314	209447059	105	10697											
FAM98A	25940	broad.mit.edu	37	chr2	33824236	33824236	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtgccctgacaatcttacCctagatcttccaacgactcc	9	10	5	17	2	2	2	0	1	2	1	4	3	4	2	5	0	3	0	5	0	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:33824236C>G	ENST00000403368.1	-	1	122	c.53_splice	c.e1+1	p.G18_splice	FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000238823.8_Splice_Site_p.G18_splice	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	18										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ACAATCTTACCCTAGATCTTC	0.597													5	258					0	0	0	0	G	33824236	C	G	33824236	5	3	58	1	0	0	0	0	0	0	1	0	5701	637	22	4	1535	4	FAM98A	2	33824236	Splice_Site	SNP	C	TCGA-CN-4723-01A-01D-1434-08	71922	33824236	209375137	106	10698											
DHX57	90957	broad.mit.edu	37	chr2	39053158	39053158	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagatacaaaggtgtcctCtagactttccatccctttgc	9	14	7	11	0	1	2	0	1	1	2	4	3	4	2	3	1	2	0	3	1	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:39053158C>G	ENST00000295373.6	-	16	2971	c.2845G>C	c.(2845-2847)Gag>Cag	p.E949Q		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	949	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AAGGTGTCCTCTAGACTTTCC	0.408													21	77					0	0	0	0	G	39053158	C	G	39053158	3	3	58	1	0	0	0	0	1	0	0	0	4550	922	32	2	1351	2	DHX57	2	39053158	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5228922	39053158	204146215	107	10699											
ZFP36L2	678	broad.mit.edu	37	chr2	43452225	43452225	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaagcccaggtgcaacgcatCgcgcgtgccaaaggcacgca	11	3	13	14	5	0	0	0	0	0	0	1	1	0	0	2	2	4	4	2	2	3	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:43452225C>G	ENST00000282388.3	-	2	1011	c.718G>C	c.(718-720)Gat>Cat	p.D240H	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	240					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D240N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGCAACGCATCGCGCGTGCCA	0.746													6	16					0	0	0	0	G	43452225	C	G	43452225	3	3	58	1	0	0	0	0	1	0	0	0	17742	884	31	3	770	3	ZFP36L2	2	43452225	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4399067	43452225	199747148	108	10700											
ABCG8	64241	broad.mit.edu	37	chr2	44079754	44079754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaatccttattctcgaCgaacccacctctgggctcga	11	9	8	13	3	2	0	0	0	2	0	5	4	3	1	3	2	1	1	3	2	4	2	rs55702734		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:44079754C>A	ENST00000272286.2	+	6	801	c.711C>A	c.(709-711)gaC>gaA	p.D237E		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	237	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTATTCTCGACGAACCCACCT	0.612													63	133					1.84395e-34	1.9964e-34	1	0	A	44079754	C	A	44079754	3	1	58	1	0	0	0	0	1	0	0	0	72	535	19	3	733	3	ABCG8	2	44079754	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	627529	44079754	199119619	109	10701											
LRPPRC	10128	broad.mit.edu	37	chr2	44161341	44161341	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcacacctcaatgatcttCttggcctctttgtaatttcc	9	16	4	12	0	5	1	2	1	3	0	6	1	6	1	3	1	0	1	3	1	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:44161341C>T	ENST00000260665.7	-	25	2781	c.2724G>A	c.(2722-2724)aaG>aaA	p.K908K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	908					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAATGATCTTCTTGGCCTCTT	0.338													12	62					0	0	0	0	T	44161341	C	T	44161341	2	4	58	1	0	0	0	0	0	0	0	1	9029	912	32	2		2	LRPPRC	2	44161341	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	81587	44161341	199038032	110	10702											
PREPL	9581	broad.mit.edu	37	chr2	44549940	44549940	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtataacttacaattcctttCagaggtacccgttcatcgtt	10	15	6	10	2	2	1	2	0	0	1	4	1	3	1	2	1	3	4	2	1	5	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:44549940C>G	ENST00000541738.1	-	12	2069	c.1683G>C	c.(1681-1683)ctG>ctC	p.L561L	PREPL_ENST00000409272.1_Silent_p.L650L|PREPL_ENST00000410081.1_Silent_p.L650L|PREPL_ENST00000409936.1_Silent_p.L650L|PREPL_ENST00000260648.6_Silent_p.L650L|PREPL_ENST00000409957.1_Silent_p.L561L|PREPL_ENST00000378511.3_Silent_p.L588L|PREPL_ENST00000409411.1_Silent_p.L561L|PREPL_ENST00000378520.3_Silent_p.L584L	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	650					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAATTCCTTTCAGAGGTACCC	0.423													80	189					0	0	0	0	G	44549940	C	G	44549940	2	3	58	1	0	0	0	0	0	0	0	1	12555	813	29	2		2	PREPL	2	44549940	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	388599	44549940	198649433	111	10703											
SRBD1	55133	broad.mit.edu	37	chr2	45807146	45807146	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttgcttccagttttatatgGagcagactagaaaataaaga	15	13	8	5	0	0	3	0	0	0	3	1	4	1	4	1	1	2	3	1	1	7	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:45807146G>C	ENST00000263736.4	-	7	1002	c.940C>G	c.(940-942)Cca>Gca	p.P314A		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	314					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTTTTATATGGAGCAGACTAG	0.398													4	196					0	0	0	0	C	45807146	G	C	45807146	3	2	58	1	0	0	0	0	1	0	0	0	15223	1174	41	2	2107	2	SRBD1	2	45807146	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1257206	45807146	197392227	112	10704											
STON1	11037	broad.mit.edu	37	chr2	48809196	48809196	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcctattatgagaaggactCagaaaaaaaggggattgata	18	9	10	4	0	1	3	1	2	0	2	2	6	2	5	1	3	0	0	1	3	7	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:48809196C>G	ENST00000309835.3	+	1	1434	c.1424C>G	c.(1423-1425)tCa>tGa	p.S475*	STON1_ENST00000406226.1_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.S475*|STON1_ENST00000404752.1_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.S475*					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGAAGGACTCAGAAAAAAAG	0.368													41	142					0	0	0	0	G	48809196	C	G	48809196	4	3	58	1	0	0	0	0	0	1	0	0	15406	838	29	2	1426	2	STON1	2	48809196	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3002050	48809196	194390177	113	10705											
NRXN1	9378	broad.mit.edu	37	chr2	51254859	51254859	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggagttgaccctcacgtcacGaatccaccccttgaagggct	9	8	10	14	2	2	2	2	2	0	0	3	4	3	3	4	2	0	2	4	2	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:51254859G>C	ENST00000404971.1	-	2	1892	c.553C>G	c.(553-555)Cgt>Ggt	p.R185G	NRXN1_ENST00000406316.2_Missense_Mutation_p.R185G|NRXN1_ENST00000405581.1_Missense_Mutation_p.R185G|NRXN1_ENST00000406859.3_Missense_Mutation_p.R185G|NRXN1_ENST00000405472.3_Missense_Mutation_p.R185G|NRXN1_ENST00000401669.2_Missense_Mutation_p.R185G|NRXN1_ENST00000402717.3_Missense_Mutation_p.R185G	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	185	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCACGTCACGAATCCACCCC	0.706													3	10					0	0	0	0	C	51254859	G	C	51254859	3	2	58	1	0	0	0	0	1	0	0	0	10736	1058	37	3	4445	3	NRXN1	2	51254859	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2445663	51254859	191944514	114	10706											
CCT7	10574	broad.mit.edu	37	chr2	73470151	73470151	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgggtgatggcaccacctCagtgaccttgctggctgcag	6	9	15	11	0	1	2	1	2	0	0	1	2	1	2	3	4	2	4	3	4	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:73470151C>G	ENST00000539919.1	+	5	526	c.155C>G	c.(154-156)tCa>tGa	p.S52*	CCT7_ENST00000540468.1_Nonsense_Mutation_p.S9*|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000537131.1_Intron|CCT7_ENST00000258091.5_Nonsense_Mutation_p.S96*|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000473786.1_3'UTR	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	96					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GGCACCACCTCAGTGACCTTG	0.502													24	74					0	0	0	0	G	73470151	C	G	73470151	4	3	58	1	0	0	0	0	0	1	0	0	2988	838	29	2	301	2	CCT7	2	73470151	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	22215292	73470151	169729222	115	10707											
ALMS1	7840	broad.mit.edu	37	chr2	73651682	73651682	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagtcgctttagtgtatctCagcacccgcttataggcagc	8	11	10	12	2	1	0	1	0	1	0	3	0	1	0	1	1	2	6	1	1	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:73651682C>T	ENST00000264448.6	+	5	1000	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Q255*|ALMS1_ENST00000377715.1_Nonsense_Mutation_p.Q297*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	297					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAGTGTATCTCAGCACCCGCT	0.448													17	46					0	0	0	0	T	73651682	C	T	73651682	4	4	58	1	0	0	0	0	0	1	0	0	535	827	29	2	907	2	ALMS1	2	73651682	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	181531	73651682	169547691	116	10708											
GPAT2	150763	broad.mit.edu	37	chr2	96690536	96690536	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccttctgatgcttgaaGagcagcagcgttgccataat	10	11	9	11	1	1	3	0	2	1	1	1	3	1	3	3	0	6	4	3	0	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:96690536G>T	ENST00000434632.1	-	15	1872	c.1413C>A	c.(1411-1413)ctC>ctA	p.L471L	GPAT2_ENST00000453542.1_Silent_p.L400L|GPAT2_ENST00000377137.3_Silent_p.L471L|GPAT2_ENST00000359548.4_Silent_p.L471L			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	471					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GATGCTTGAAGAGCAGCAGCG	0.657													81	246					5.01443e-46	5.44815e-46	1	0	T	96690536	G	T	96690536	2	4	58	1	0	0	0	0	0	0	0	1	6638	929	33	2		2	GPAT2	2	96690536	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	23038854	96690536	146508837	117	10709											
GPAT2	150763	broad.mit.edu	37	chr2	96690561	96690561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgttgccataatggccGtgctcatcaccgcagagctc	8	8	11	14	3	2	1	2	0	0	1	3	1	2	1	3	1	4	5	3	1	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:96690561G>T	ENST00000434632.1	-	15	1847	c.1388C>A	c.(1387-1389)aCg>aAg	p.T463K	GPAT2_ENST00000453542.1_Missense_Mutation_p.T392K|GPAT2_ENST00000377137.3_Missense_Mutation_p.T463K|GPAT2_ENST00000359548.4_Missense_Mutation_p.T463K			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	463					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CATAATGGCCGTGCTCATCAC	0.642													63	209					1.72039e-30	1.85447e-30	1	0	T	96690561	G	T	96690561	3	4	58	1	0	0	0	0	1	0	0	0	6638	1145	40	3	1035	3	GPAT2	2	96690561	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	25	96690561	146508812	118	10710											
IL18RAP	8807	broad.mit.edu	37	chr2	103068542	103068542	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaaaaactctcagggattCacgtggaaccagctcagaat	14	8	10	9	1	3	2	3	1	1	1	4	4	3	4	1	2	3	1	1	2	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:103068542C>T	ENST00000264260.2	+	12	2290	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	IL18RAP_ENST00000409369.1_Silent_p.F425F	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	567					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CTCAGGGATTCACGTGGAACC	0.478													35	209					0	0	0	0	T	103068542	C	T	103068542	2	4	58	1	0	0	0	0	0	0	0	1	7701	825	29	2		2	IL18RAP	2	103068542	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6377981	103068542	140130831	119	10711											
MYO7B	4648	broad.mit.edu	37	chr2	128366312	128366312	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcatcccggccgaggggcaGaaaagccaaggcgctctccc	9	4	13	15	3	2	1	1	0	1	1	4	2	3	1	4	4	1	2	4	4	3	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:128366312G>A	ENST00000389524.4	+	22	2726	c.2673G>A	c.(2671-2673)caG>caA	p.Q891Q	MYO7B_ENST00000428314.1_Silent_p.Q891Q|MYO7B_ENST00000409816.2_Silent_p.Q891Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	891						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCGAGGGGCAGAAAAGCCAAG	0.657													6	35					0	0	0	0	A	128366312	G	A	128366312	2	1	58	1	0	0	0	0	0	0	0	1	10153	933	33	2		2	MYO7B	2	128366312	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	25297770	128366312	114833061	120	10712											
POLR2D	5433	broad.mit.edu	37	chr2	128610608	128610608	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttcgtcctctgcactctCattctgctgctttcgatgtt	3	18	7	13	2	3	0	1	0	3	0	7	1	4	0	1	0	3	5	1	0	0	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:128610608C>G	ENST00000272645.4	-	2	201	c.145G>C	c.(145-147)Gag>Cag	p.E49Q	POLR2D_ENST00000409698.1_Missense_Mutation_p.E11Q|POLR2D_ENST00000487079.1_Intron|POLR2D_ENST00000409955.1_Missense_Mutation_p.E49Q	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	49					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding			large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		TCTGCACTCTCATTCTGCTGC	0.418													51	217					0	0	0	0	G	128610608	C	G	128610608	3	3	58	1	0	0	0	0	1	0	0	0	12289	835	29	2	295	2	POLR2D	2	128610608	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	244296	128610608	114588765	121	10713											
NCKAP5	344148	broad.mit.edu	37	chr2	133541612	133541612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcggaggggaaggggatttCacccctgcctccggcccaga	7	5	16	13	2	1	1	1	0	0	1	2	4	2	4	5	7	1	0	5	7	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:133541612C>T	ENST00000409261.1	-	14	3145	c.2772G>A	c.(2770-2772)gtG>gtA	p.V924V	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.V924V|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	924							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGGGGATTTCACCCCTGCCT	0.622													21	38					0	0	0	0	T	133541612	C	T	133541612	2	4	58	1	0	0	0	0	0	0	0	1	10293	813	29	2		2	NCKAP5	2	133541612	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4931004	133541612	109657761	122	10714											
NCKAP5	344148	broad.mit.edu	37	chr2	133542513	133542513	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagacccacatagagattttCcaaaccccacaaggacatcc	15	6	6	14	0	0	2	0	0	0	2	2	5	2	3	5	1	1	0	5	1	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:133542513C>G	ENST00000409261.1	-	14	2244	c.1871G>C	c.(1870-1872)gGa>gCa	p.G624A	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G624A|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	624							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TAGAGATTTTCCAAACCCCAC	0.473													18	76					0	0	0	0	G	133542513	C	G	133542513	3	3	58	1	0	0	0	0	1	0	0	0	10293	855	30	2	3886	2	NCKAP5	2	133542513	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	901	133542513	109656860	123	10715											
MCM6	4175	broad.mit.edu	37	chr2	136620310	136620310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggacaccccgttttacttCatcattgcctgaaatgaaaa	13	11	6	11	1	2	2	2	2	0	0	2	3	2	3	3	1	2	1	3	1	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:136620310C>T	ENST00000264156.2	-	8	1147	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	363	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CGTTTTACTTCATCATTGCCT	0.408													40	80					0	0	0	0	T	136620310	C	T	136620310	3	4	58	1	0	0	0	0	1	0	0	0	9460	835	29	2	1418	2	MCM6	2	136620310	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3077797	136620310	106579063	124	10716											
NEB	4703	broad.mit.edu	37	chr2	152548584	152548584	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaacttacatcactgttttGagctgcaactttcatgcagt	11	14	6	10	0	2	1	2	1	0	0	2	1	2	1	0	0	6	4	0	0	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:152548584G>C	ENST00000427231.2	-	22	2297	c.2095C>G	c.(2095-2097)Caa>Gaa	p.Q699E	NEB_ENST00000409198.1_Missense_Mutation_p.Q699E|NEB_ENST00000172853.10_Missense_Mutation_p.Q699E|NEB_ENST00000397345.3_Missense_Mutation_p.Q699E|NEB_ENST00000604864.1_Missense_Mutation_p.Q699E|NEB_ENST00000603639.1_Missense_Mutation_p.Q699E	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	699					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACTGTTTTGAGCTGCAACT	0.373													49	170					0	0	0	0	C	152548584	G	C	152548584	3	2	58	1	0	0	0	0	1	0	0	0	10372	1299	45	2	24235	2	NEB	2	152548584	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	15928274	152548584	90650789	125	10717											
FMNL2	114793	broad.mit.edu	37	chr2	153415272	153415272	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgggtcagagaatttctGaatgaagaaaacaaaggtct	17	9	11	4	0	3	5	1	2	2	3	3	6	3	5	0	2	1	0	0	2	6	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:153415272G>C	ENST00000288670.9	+	5	745	c.378G>C	c.(376-378)ctG>ctC	p.L126L		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	126	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GAGAATTTCTGAATGAAGAAA	0.368													8	30					0	0	0	0	C	153415272	G	C	153415272	2	2	58	1	0	0	0	0	0	0	0	1	5997	1277	45	2		2	FMNL2	2	153415272	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	866688	153415272	89784101	126	10718											
GPD2	2820	broad.mit.edu	37	chr2	157425415	157425415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatctgcagatactcagtCtatctcccgaaatcatgttg	12	12	6	11	1	5	1	2	0	3	1	6	2	5	1	1	0	2	2	1	0	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:157425415C>G	ENST00000310454.6	+	10	1616	c.1244C>G	c.(1243-1245)tCt>tGt	p.S415C	GPD2_ENST00000409674.1_Missense_Mutation_p.S415C|GPD2_ENST00000438166.2_Missense_Mutation_p.S415C|GPD2_ENST00000409125.4_Missense_Mutation_p.S188C|GPD2_ENST00000540309.1_Intron	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	415					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GATACTCAGTCTATCTCCCGA	0.413													61	241					0	0	0	0	G	157425415	C	G	157425415	3	3	58	1	0	0	0	0	1	0	0	0	6655	913	32	2	1278	2	GPD2	2	157425415	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4010143	157425415	85773958	127	10719											
ACVR1C	130399	broad.mit.edu	37	chr2	158399269	158399269	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcgatagtgttcagtattGaatcatgcttcacagccaac	11	13	8	9	1	3	1	3	1	0	0	4	2	3	1	1	0	3	3	1	0	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:158399269G>C	ENST00000243349.7	-	6	1409	c.1049C>G	c.(1048-1050)tCa>tGa	p.S350*	ACVR1C_ENST00000409680.3_Nonsense_Mutation_p.S300*|ACVR1C_ENST00000335450.7_Nonsense_Mutation_p.S270*|ACVR1C_ENST00000348328.5_Nonsense_Mutation_p.S193*	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	350	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GTTCAGTATTGAATCATGCTT	0.418													72	150					0	0	0	0	C	158399269	G	C	158399269	4	2	58	1	0	0	0	0	0	1	0	0	222	1294	45	2	448	2	ACVR1C	2	158399269	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	973854	158399269	84800104	128	10720											
BAZ2B	29994	broad.mit.edu	37	chr2	160295624	160295624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatcttcttctagatcatCtgaatcactgctactaatgc	10	16	4	11	0	7	2	3	1	4	1	7	2	7	2	0	0	3	1	0	0	4	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:160295624C>G	ENST00000392783.2	-	7	1291	c.796G>C	c.(796-798)Gat>Cat	p.D266H	BAZ2B_ENST00000343439.5_Missense_Mutation_p.D264H|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D266H|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D264H	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						tctAGATCATCTGAATCACTG	0.373													71	184					0	0	0	0	G	160295624	C	G	160295624	3	3	58	1	0	0	0	0	1	0	0	0	1336	913	32	2	5834	2	BAZ2B	2	160295624	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1896355	160295624	82903749	129	10721											
BAZ2B	29994	broad.mit.edu	37	chr2	160295712	160295712	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctagaactttccattgctttCttccttggtttctggataac	7	18	6	10	0	2	1	0	0	2	1	4	2	4	2	2	2	3	2	2	2	3	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:160295712C>G	ENST00000392783.2	-	7	1203	c.708G>C	c.(706-708)aaG>aaC	p.K236N	BAZ2B_ENST00000343439.5_Missense_Mutation_p.K234N|BAZ2B_ENST00000355831.2_Missense_Mutation_p.K236N|BAZ2B_ENST00000392782.1_Missense_Mutation_p.K234N	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	236	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCATTGCTTTCTTCCTTGGTT	0.363													71	162					0	0	0	0	G	160295712	C	G	160295712	3	3	58	1	0	0	0	0	1	0	0	0	1336	912	32	2	5922	2	BAZ2B	2	160295712	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	88	160295712	82903661	130	10722											
KCNH7	90134	broad.mit.edu	37	chr2	163393474	163393474	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatattgggtttaccctctCtggggtggcagcgttttcat	6	16	11	8	1	2	0	1	0	1	0	3	0	2	0	1	4	2	3	1	4	3	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:163393474C>G	ENST00000332142.5	-	3	523	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.E142Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	142	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTTACCCTCTCTGGGGTGGCA	0.378													63	184					0	0	0	0	G	163393474	C	G	163393474	3	3	58	1	0	0	0	0	1	0	0	0	8090	922	32	2	3288	2	KCNH7	2	163393474	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3097762	163393474	79805899	131	10723											
FIGN	55137	broad.mit.edu	37	chr2	164466133	164466133	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttgagatatgctaggctGaatcttgcagaaagcatttt	11	15	9	6	0	1	3	0	2	1	2	1	4	1	3	0	1	3	4	0	1	4	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:164466133G>A	ENST00000333129.3	-	3	2523	c.2209C>T	c.(2209-2211)Cag>Tag	p.Q737*	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	737						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATGCTAGGCTGAATCTTGCAG	0.413													27	113					0	0	0	0	A	164466133	G	A	164466133	4	1	58	1	0	0	0	0	0	1	0	0	5936	1299	45	2	74	2	FIGN	2	164466133	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1072659	164466133	78733240	132	10724											
SCN1A	6323	broad.mit.edu	37	chr2	166848631	166848631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccagcagaggttgtaatttgGaataggcagatcatgctgtt	11	12	12	6	0	1	2	1	0	0	2	1	3	1	3	1	3	2	6	1	3	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:166848631G>C	ENST00000423058.2	-	26	5171	c.5154C>G	c.(5152-5154)ttC>ttG	p.F1718L	SCN1A_ENST00000303395.4_Missense_Mutation_p.F1718L|SCN1A_ENST00000375405.3_Missense_Mutation_p.F1707L|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F1690L|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1718						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTGTAATTTGGAATAGGCAGA	0.468													48	239					0	0	0	0	C	166848631	G	C	166848631	3	2	58	1	0	0	0	0	1	0	0	0	14001	1165	41	2	879	2	SCN1A	2	166848631	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2382498	166848631	76350742	133	10725											
XIRP2	129446	broad.mit.edu	37	chr2	168106418	168106418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagattaataactgaaaGaaaacacgaacatctgaaga	22	6	8	5	1	1	6	0	2	1	4	1	8	1	6	0	0	3	0	0	0	7	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:168106418G>T	ENST00000409195.1	+	9	8605	c.8516G>T	c.(8515-8517)aGa>aTa	p.R2839I	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R2839I|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2617I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2664					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						ATAACTGAAAGAAAACACGAA	0.383													4	119					0.00909568	0.00921546	1	0	T	168106418	G	T	168106418	3	4	58	1	0	0	0	0	1	0	0	0	17526	942	33	2	8546	2	XIRP2	2	168106418	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1257787	168106418	75092955	134	10726											
LRP2	4036	broad.mit.edu	37	chr2	169989122	169989122	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgaagttgggtttgtctCtggaactatctcagaagggt	8	14	14	5	0	2	2	1	1	2	1	4	3	2	3	0	4	1	2	0	4	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:169989122C>G	ENST00000263816.3	-	77	13975	c.13690G>C	c.(13690-13692)Gag>Cag	p.E4564Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4564					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGGTTTGTCTCTGGAACTATC	0.418													4	240					0	0	0	0	G	169989122	C	G	169989122	3	3	58	1	0	0	0	0	1	0	0	0	9020	922	32	2	289	2	LRP2	2	169989122	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1882704	169989122	73210251	135	10727											
LRP2	4036	broad.mit.edu	37	chr2	170139405	170139405	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatcattagctttgcaataCtgtccacgctccaagatata	13	12	6	10	1	1	1	1	0	0	1	3	2	3	1	2	0	3	3	2	0	7	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:170139405C>G	ENST00000263816.3	-	10	1434	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	LRP2_ENST00000443831.1_Missense_Mutation_p.Q383H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	383	EGF-like 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTTGCAATACTGTCCACGCT	0.448													52	197					0	0	0	0	G	170139405	C	G	170139405	3	3	58	1	0	0	0	0	1	0	0	0	9020	564	20	4	13098	4	LRP2	2	170139405	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	150283	170139405	73059968	136	10728											
OLA1	29789	broad.mit.edu	37	chr2	175006586	175006586	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttttttatctcctcctctCacagccaccttttctagttt	6	19	3	13	0	3	0	1	0	3	0	6	0	4	0	4	0	1	2	4	0	2	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:175006586C>G	ENST00000284719.3	-	5	762	c.516G>C	c.(514-516)gtG>gtC	p.V172V	OLA1_ENST00000409546.1_Silent_p.V192V|OLA1_ENST00000344357.5_Silent_p.V14V|OLA1_ENST00000428402.2_Silent_p.V172V	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	172					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CTCCTCCTCTCACAGCCACCT	0.294													29	135					0	0	0	0	G	175006586	C	G	175006586	2	3	58	1	0	0	0	0	0	0	0	1	10921	813	29	2		2	OLA1	2	175006586	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4867181	175006586	68192787	137	10729											
NFE2L2	4780	broad.mit.edu	37	chr2	178098944	178098944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gactgaagtcaaatacttctCgacttactccaagatctata	14	12	5	10	1	3	2	1	1	2	1	5	4	4	2	1	0	2	0	1	0	7	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:178098944C>G	ENST00000397062.3	-	2	655	c.101G>C	c.(100-102)cGa>cCa	p.R34P	NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18P|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18P|NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18P|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R34Q(10)|p.R34P(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATACTTCTCGACTTACTCC	0.373			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			34	70					0	0	0	0	G	178098944	C	G	178098944	3	3	58	1	0	0	0	0	1	0	0	0	10438	884	31	3	1732	3	NFE2L2	2	178098944	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3092358	178098944	65100429	138	10730											
TTC30A	92104	broad.mit.edu	37	chr2	178482760	178482760	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcatgcccacacctagctCaggatgctggcggatgccac	8	7	12	14	1	2	0	2	0	0	0	2	2	2	2	3	4	4	2	3	4	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:178482760C>G	ENST00000355689.4	-	1	934	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	224					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			ACACCTAGCTCAGGATGCTGG	0.522													30	71					0	0	0	0	G	178482760	C	G	178482760	3	3	58	1	0	0	0	0	1	0	0	0	16794	835	29	2	1331	2	TTC30A	2	178482760	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	383816	178482760	64716613	139	10731											
RBM45	129831	broad.mit.edu	37	chr2	178977396	178977396	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacacacctgagtcggtgctGagggagcgcttctcgccttt	6	11	12	12	3	1	2	0	2	1	0	3	3	1	3	2	2	3	2	2	2	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:178977396G>C	ENST00000286070.5	+	1	215	c.123G>C	c.(121-123)ctG>ctC	p.L41L		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	41	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AGTCGGTGCTGAGGGAGCGCT	0.627											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	91					0	0	0	0	C	178977396	G	C	178977396	2	2	58	1	0	0	0	0	0	0	0	1	13221	1277	45	2		2	RBM45	2	178977396	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	494636	178977396	64221977	140	10732											
OSBPL6	114880	broad.mit.edu	37	chr2	179201157	179201157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagatggacaggtgtgcaGaaggttagttcttgcccagt	11	10	14	6	0	1	2	0	0	1	2	1	4	1	3	1	3	2	3	1	3	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179201157G>A	ENST00000190611.4	+	9	1163	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	OSBPL6_ENST00000409045.3_Missense_Mutation_p.E263K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E263K|OSBPL6_ENST00000315022.2_Missense_Mutation_p.E242K|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E263K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E263K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E263K	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	263					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CAGGTGTGCAGAAGGTTAGTT	0.493													51	121					0	0	0	0	A	179201157	G	A	179201157	3	1	58	1	0	0	0	0	1	0	0	0	11352	943	33	2	856	2	OSBPL6	2	179201157	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	223761	179201157	63998216	141	10733											
TTN	7273	broad.mit.edu	37	chr2	179463706	179463706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcacaggagagcctccatCatattctggctcttcccagt	8	12	8	13	0	4	1	2	0	2	1	6	2	6	1	3	2	1	1	3	2	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179463706C>T	ENST00000589042.1	-	291	56955	c.56731G>A	c.(56731-56733)Gat>Aat	p.D18911N	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D17270N|TTN_ENST00000460472.2_Missense_Mutation_p.D9846N|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9971N|TTN_ENST00000342992.6_Missense_Mutation_p.D16343N|TTN_ENST00000342175.6_Missense_Mutation_p.D10038N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17270	Ig-like 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D9971N(1)|p.D16343N(1)|p.D10038N(1)|p.D16341N(1)|p.D9846N(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)			GAGCCTCCATCATATTCTGGC	0.463													12	32					0	0	0	0	T	179463706	C	T	179463706	3	4	58	1	0	0	0	0	1	0	0	0	16831	826	29	2	51250	2	TTN	2	179463706	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	262549	179463706	63735667	142	10734											
TTN	7273	broad.mit.edu	37	chr2	179487426	179487426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcgggaaagttcacactCaaatcgagccatttcttttt	10	15	6	10	2	4	0	2	0	2	0	6	2	4	1	1	1	1	1	1	1	2	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179487426C>T	ENST00000589042.1	-	243	45108	c.44884G>A	c.(44884-44886)Gag>Aag	p.E14962K	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13321K|TTN_ENST00000460472.2_Missense_Mutation_p.E5897K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6022K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12394K|TTN_ENST00000342175.6_Missense_Mutation_p.E6089K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13321	Fibronectin type-III 8.						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)			AGTTCACACTCAAATCGAGCC	0.373													13	12					0	0	0	0	T	179487426	C	T	179487426	3	4	58	1	0	0	0	0	1	0	0	0	16831	835	29	2	63289	2	TTN	2	179487426	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	23720	179487426	63711947	143	10735											
TTN	7273	broad.mit.edu	37	chr2	179616570	179616570	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacatgtaaaaacaaccggTtcaccctctaaaacatattt	16	11	3	11	1	2	0	1	0	1	0	2	0	2	0	2	1	4	2	2	1	8	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179616570T>C	ENST00000360870.5	-	46	10779	c.10557A>G	c.(10555-10557)gaA>gaG	p.E3519E	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3518	Ig-like 21.						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)			AAACAACCGGTTCACCCTCTA	0.373													48	174					0	0	0	0	C	179616570	T	C	179616570	2	2	58	1	0	0	0	0	0	0	0	1	16831	1722	60	5		5	TTN	2	179616570	Silent	SNP	T	TCGA-CN-4723-01A-01D-1434-08	129144	179616570	63582803	144	10736											
TTN	7273	broad.mit.edu	37	chr2	179639765	179639765	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggaagtgaacctttctgtCagagtgcatcctgtatttat	10	14	10	7	0	2	2	1	1	1	1	3	4	3	3	2	1	2	2	2	1	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179639765C>G	ENST00000589042.1	-	29	6897	c.6673G>C	c.(6673-6675)Gac>Cac	p.D2225H	TTN_ENST00000591111.1_Missense_Mutation_p.D2225H|TTN_ENST00000460472.2_Missense_Mutation_p.D2179H|TTN_ENST00000359218.5_Missense_Mutation_p.D2179H|TTN_ENST00000342992.6_Missense_Mutation_p.D2225H|TTN_ENST00000342175.6_Missense_Mutation_p.D2179H|TTN_ENST00000360870.5_Missense_Mutation_p.D2225H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1962	Ig-like 11.						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)			ACCTTTCTGTCAGAGTGCATC	0.408													28	99					0	0	0	0	G	179639765	C	G	179639765	3	3	58	1	0	0	0	0	1	0	0	0	16831	826	29	2	104651	2	TTN	2	179639765	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	23195	179639765	63559608	145	10737											
TTN	7273	broad.mit.edu	37	chr2	179650577	179650577	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggtatagactcacctGtgatgatatgtgcattccct	10	12	9	10	0	1	3	1	2	0	1	2	3	2	3	2	1	2	3	2	1	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179650577G>A	ENST00000589042.1	-	14	2592	c.2368C>T	c.(2368-2370)Cag>Tag	p.Q790*	TTN_ENST00000591111.1_Nonsense_Mutation_p.Q790*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q744*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q744*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q790*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q744*|TTN_ENST00000360870.5_Nonsense_Mutation_p.Q790*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	790							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)			AGACTCACCTGTGATGATATG	0.438													33	68					0	0	0	0	A	179650577	G	A	179650577	4	1	58	1	0	0	0	0	0	1	0	0	16831	1386	48	4	109016	4	TTN	2	179650577	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	10812	179650577	63548796	146	10738											
COL3A1	1281	broad.mit.edu	37	chr2	189864098	189864098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctggtccccctggtcccGaaggaggaaaggtaactcca	10	6	13	12	1	0	0	0	0	0	0	3	4	3	2	4	5	2	2	4	5	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:189864098G>A	ENST00000304636.3	+	30	2280	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E704K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	704	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCCTGGTCCCGAAGGAGGAAA	0.483													10	35					0	0	0	0	A	189864098	G	A	189864098	3	1	58	1	0	0	0	0	1	0	0	0	3718	1059	37	1	2228	1	COL3A1	2	189864098	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	10213521	189864098	53335275	147	10739											
MSTN	2660	broad.mit.edu	37	chr2	190927053	190927053	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggacatcatactgatcaatCagttcccggagtggaggagc	11	9	12	9	1	3	1	3	1	0	0	4	5	4	5	1	4	2	1	1	4	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:190927053C>G	ENST00000260950.4	-	1	402	c.270G>C	c.(268-270)ctG>ctC	p.L90L	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	90					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ACTGATCAATCAGTTCCCGGA	0.438													11	126					0	0	0	0	G	190927053	C	G	190927053	2	3	58	1	0	0	0	0	0	0	0	1	9963	813	29	2		2	MSTN	2	190927053	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1062955	190927053	52272320	148	10740											
STAT4	6775	broad.mit.edu	37	chr2	191929550	191929550	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccagttctgaagctggtcGagcccattgtggagtggacc	8	10	13	10	1	1	1	0	1	1	0	2	4	1	3	3	3	3	2	3	3	2	3	rs138111228	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:191929550G>A	ENST00000392320.2	-	8	1079	c.765C>T	c.(763-765)ctC>ctT	p.L255L	STAT4_ENST00000358470.4_Silent_p.L255L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	255					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GAAGCTGGTCGAGCCCATTGT	0.502													73	262					0	0	0	0	A	191929550	G	A	191929550	2	1	58	1	0	0	0	0	0	0	0	1	15357	1045	37	1		1	STAT4	2	191929550	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1002497	191929550	51269823	149	10741											
DNAH7	56171	broad.mit.edu	37	chr2	196661353	196661353	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggcaaggtgacaattctGaagaacaacccatgttcctt	12	10	10	9	0	1	3	0	2	1	1	2	3	2	3	2	3	2	2	2	3	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:196661353G>A	ENST00000312428.6	-	56	10562	c.10462C>T	c.(10462-10464)Cag>Tag	p.Q3488*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3488	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGACAATTCTGAAGAACAACC	0.418													20	71					0	0	0	0	A	196661353	G	A	196661353	4	1	58	1	0	0	0	0	0	1	0	0	4642	1299	45	2	1652	2	DNAH7	2	196661353	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4731803	196661353	46538020	150	10742											
CFLAR	8837	broad.mit.edu	37	chr2	202025277	202025277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccgagcaccgagactacGacagctttgtgtgtgtcctg	7	10	12	12	3	0	1	0	0	0	1	1	4	1	1	3	0	4	2	3	0	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:202025277G>A	ENST00000309955.2	+	9	1431	c.916G>A	c.(916-918)Gac>Aac	p.D306N	CFLAR_ENST00000340870.5_Missense_Mutation_p.D306N|CFLAR_ENST00000479953.2_Missense_Mutation_p.D210N|CFLAR_ENST00000443227.1_Missense_Mutation_p.D210N|CFLAR_ENST00000457277.1_Missense_Mutation_p.D306N|CFLAR_ENST00000423241.2_Missense_Mutation_p.D306N|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000341582.6_Missense_Mutation_p.D271N	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	306	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CCGAGACTACGACAGCTTTGT	0.527													61	219					0	0	0	0	A	202025277	G	A	202025277	3	1	58	1	0	0	0	0	1	0	0	0	3321	1058	37	1	1010	1	CFLAR	2	202025277	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	5363924	202025277	41174096	151	10743											
CYP20A1	57404	broad.mit.edu	37	chr2	204143351	204143351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataaaagaacgaaaaggaagGaacttcagtcaacatatttt	20	9	7	5	1	2	1	2	0	0	1	2	4	2	3	0	2	3	0	0	2	9	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:204143351G>T	ENST00000356079.4	+	7	858	c.735G>T	c.(733-735)agG>agT	p.R245S	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.R253S	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	245						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAAAGGAAGGAACTTCAGTC	0.318													6	41					1.6384e-10	1.71066e-10	1	0	T	204143351	G	T	204143351	3	4	58	1	0	0	0	0	1	0	0	0	4184	1165	41	2	761	2	CYP20A1	2	204143351	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2118074	204143351	39056022	152	10744											
CYP20A1	57404	broad.mit.edu	37	chr2	204143376	204143376	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagtcaacatattttcattGactccttagtacaagggaac	13	13	6	9	0	3	1	3	1	0	0	4	2	4	2	1	1	3	1	1	1	6	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:204143376G>C	ENST00000356079.4	+	7	883	c.760G>C	c.(760-762)Gac>Cac	p.D254H	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.D262H	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	254						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TATTTTCATTGACTCCTTAGT	0.358													6	40					0	0	0	0	C	204143376	G	C	204143376	3	2	58	1	0	0	0	0	1	0	0	0	4184	1290	45	2	786	2	CYP20A1	2	204143376	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	25	204143376	39055997	153	10745											
ADAM23	8745	broad.mit.edu	37	chr2	207413038	207413038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaccagtggccctttctctCtgaattacagtggttgaaaa	10	13	9	9	0	2	3	0	3	2	0	3	3	2	3	2	2	1	1	2	2	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:207413038C>T	ENST00000264377.3	+	8	1155	c.827C>T	c.(826-828)tCt>tTt	p.S276F	ADAM23_ENST00000374416.1_Missense_Mutation_p.S276F|ADAM23_ENST00000374415.3_Missense_Mutation_p.S276F	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	276					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCCTTTCTCTCTGAATTACAG	0.388													32	86					0	0	0	0	T	207413038	C	T	207413038	3	4	58	1	0	0	0	0	1	0	0	0	245	913	32	2	857	2	ADAM23	2	207413038	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3269662	207413038	35786335	154	10746											
CPS1	1373	broad.mit.edu	37	chr2	211518779	211518779	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgctgacaaaatttgttGaaggggcccgagaagtagaa	13	9	14	5	1	0	4	0	2	0	2	0	5	0	4	1	3	1	3	1	3	6	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:211518779G>C	ENST00000233072.5	+	29	3707	c.3511G>C	c.(3511-3513)Gaa>Caa	p.E1171Q	CPS1_ENST00000451903.2_Missense_Mutation_p.E720Q|CPS1_ENST00000430249.2_Missense_Mutation_p.E1177Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1171	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAAATTTGTTGAAGGGGCCCG	0.438													21	99					0	0	0	0	C	211518779	G	C	211518779	3	2	58	1	0	0	0	0	1	0	0	0	3853	1291	45	2	3647	2	CPS1	2	211518779	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4105741	211518779	31680594	155	10747											
ERBB4	2066	broad.mit.edu	37	chr2	212530143	212530143	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgtaagccatctggacaTttttccacacagtttgggcc	8	12	8	13	0	1	0	0	0	1	0	2	1	2	1	4	2	1	2	4	2	1	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:212530143T>C	ENST00000342788.4	-	15	2086	c.1776A>G	c.(1774-1776)aaA>aaG	p.K592K	ERBB4_ENST00000402597.1_Silent_p.K592K|ERBB4_ENST00000436443.1_Silent_p.K592K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	592	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CATCTGGACATTTTTCCACAC	0.433										TSP Lung(8;0.080)			28	85					0	0	0	0	C	212530143	T	C	212530143	2	2	58	1	0	0	0	0	0	0	0	1	5247	1490	52	5		5	ERBB4	2	212530143	Silent	SNP	T	TCGA-CN-4723-01A-01D-1434-08	1011364	212530143	30669230	156	10748											
RNF25	64320	broad.mit.edu	37	chr2	219529908	219529908	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggggttcaggggctgctttCagtgaggcaagatcatacac	9	10	14	8	0	3	2	3	1	0	1	3	2	3	2	0	5	2	4	0	5	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:219529908C>G	ENST00000295704.2	-	8	1076	c.636G>C	c.(634-636)ctG>ctC	p.L212L		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	212					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCTGCTTTCAGTGAGGCAA	0.478													32	71					0	0	0	0	G	219529908	C	G	219529908	2	3	58	1	0	0	0	0	0	0	0	1	13570	813	29	2		2	RNF25	2	219529908	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6999765	219529908	23669465	157	10749											
STK36	27148	broad.mit.edu	37	chr2	219538430	219538430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgagagattgaaataatgcGgggtctgcggcatcccaaca	13	7	12	9	3	1	2	0	1	1	1	2	4	2	2	1	3	3	1	1	3	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:219538430G>A	ENST00000295709.3	+	3	446	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	STK36_ENST00000392106.2_Missense_Mutation_p.R56Q|STK36_ENST00000440309.1_Missense_Mutation_p.R56Q|STK36_ENST00000392105.3_Missense_Mutation_p.R56Q	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	56	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GAAATAATGCGGGGTCTGCGG	0.498													14	61					0	0	0	0	A	219538430	G	A	219538430	3	1	58	1	0	0	0	0	1	0	0	0	15392	1116	39	1	173	1	STK36	2	219538430	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	8522	219538430	23660943	158	10750											
SPEG	10290	broad.mit.edu	37	chr2	220309772	220309772	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccgctggtgcgggcatctcGagctaatctggtgggcgcaa	6	8	16	11	4	2	0	0	0	2	0	3	1	2	0	1	4	2	4	1	4	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:220309772G>C	ENST00000312358.7	+	3	836	c.704G>C	c.(703-705)cGa>cCa	p.R235P	SPEG_ENST00000396698.1_Missense_Mutation_p.R131P|SPEG_ENST00000396695.2_Intron	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	235					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGGCATCTCGAGCTAATCTG	0.701													4	8					0	0	0	0	C	220309772	G	C	220309772	3	2	58	1	0	0	0	0	1	0	0	0	15126	1058	37	3	714	3	SPEG	2	220309772	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	771342	220309772	22889601	159	10751											
FARSB	10056	broad.mit.edu	37	chr2	223489148	223489148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccatcacctatgacttctGattttaaatacatcctggtc	10	15	4	12	0	2	2	1	2	1	0	5	2	4	2	3	1	1	0	3	1	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:223489148G>A	ENST00000281828.6	-	12	1276	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	FARSB_ENST00000536361.1_Missense_Mutation_p.S239L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	338	B5.				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TATGACTTCTGATTTTAAATA	0.353													19	84					0	0	0	0	A	223489148	G	A	223489148	3	1	58	1	0	0	0	0	1	0	0	0	5725	1294	45	2	780	2	FARSB	2	223489148	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3179376	223489148	19710225	160	10752											
COL4A3	1285	broad.mit.edu	37	chr2	228128542	228128542	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccctggatggccaggcctGaaaggaagtaaaggggaacg	12	4	16	9	1	0	1	0	1	0	0	0	4	0	4	4	6	1	1	4	6	5	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:228128542G>C	ENST00000396578.3	+	21	1359	c.1197G>C	c.(1195-1197)ctG>ctC	p.L399L	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	399	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGCCAGGCCTGAAAGGAAGTA	0.517													9	44					0	0	0	0	C	228128542	G	C	228128542	2	2	58	1	0	0	0	0	0	0	0	1	3721	1277	45	2		2	COL4A3	2	228128542	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4639394	228128542	15070831	161	10753											
KCNJ13	3769	broad.mit.edu	37	chr2	233635840	233635840	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaccattcatctcagccAgaacataccagagcactgca	14	7	6	14	0	3	2	3	0	1	2	4	3	3	2	3	0	5	2	3	0	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:233635840A>G	ENST00000233826.3	-	2	372	c.233T>C	c.(232-234)cTg>cCg	p.L78P	KCNJ13_ENST00000410029.1_Missense_Mutation_p.L78P|KCNJ13_ENST00000409779.1_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409547.1_Intron	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	78						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		CATCTCAGCCAGAACATACCA	0.468													20	73					0	0	0	0	G	233635840	A	G	233635840	3	3	58	1	0	0	0	0	1	0	0	0	8100	188	7	5	857	5	KCNJ13	2	233635840	Missense_Mutation	SNP	A	TCGA-CN-4723-01A-01D-1434-08	5507298	233635840	9563533	162	10754											
INPP5D	3635	broad.mit.edu	37	chr2	234094512	234094512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtcaagagtcaggaaggaGaaaatgaagaaggaagtgag	18	6	15	2	0	2	5	2	2	0	3	2	8	2	7	0	3	0	0	0	3	7	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:234094512G>C	ENST00000359570.5	+	23	2263	c.2263G>C	c.(2263-2265)Gaa>Caa	p.E755Q	INPP5D_ENST00000455936.2_Missense_Mutation_p.E519Q|INPP5D_ENST00000450745.1_Missense_Mutation_p.E519Q			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	767					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCAGGAAGGAGAAAATGAAGA	0.478													9	25					0	0	0	0	C	234094512	G	C	234094512	3	2	58	1	0	0	0	0	1	0	0	0	7809	943	33	2	1889	2	INPP5D	2	234094512	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	458672	234094512	9104861	163	10755											
UGT1A7	54577	broad.mit.edu	37	chr2	234591192	234591192	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcagacgccatgactttCaaggagagagtatggaacca	13	9	10	9	1	2	3	2	1	1	2	3	6	2	5	2	2	1	1	2	2	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:234591192C>T	ENST00000373426.3	+	1	609	c.609C>T	c.(607-609)ttC>ttT	p.F203F	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCATGACTTTCAAGGAGAGAG	0.428													105	251					0	0	0	0	T	234591192	C	T	234591192	2	4	58	1	0	0	0	0	0	0	0	1	17046	825	29	2		2	UGT1A7	2	234591192	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	496680	234591192	8608181	164	10756											
UGT1A1	54658	broad.mit.edu	37	chr2	234669410	234669410	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccttccttgcagccccatCgtggcccagtacctgtctct	4	13	7	17	1	1	0	0	0	1	0	5	0	3	0	6	1	3	2	6	1	1	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:234669410C>T	ENST00000360418.3	+	1	477	c.477C>T	c.(475-477)atC>atT	p.I159I	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000305208.5_Silent_p.I159I|UGT1A6_ENST00000373424.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron			P22309	UD11_HUMAN		159					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GCAGCCCCATCGTGGCCCAGT	0.557													75	156					0	0	0	0	T	234669410	C	T	234669410	2	4	58	1	0	0	0	0	0	0	0	1	17040	874	31	1		1	UGT1A1	2	234669410	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	78218	234669410	8529963	165	10757											
AGAP1	116987	broad.mit.edu	37	chr2	236949416	236949416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccggctgacgagccagagcGaggccatggccctgcagtcg	7	4	15	15	4	0	2	0	1	0	1	1	4	0	2	4	3	3	2	4	3	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:236949416G>A	ENST00000409538.1	+	14	2954	c.2458G>A	c.(2458-2460)Gag>Aag	p.E820K	AGAP1_ENST00000428334.2_Missense_Mutation_p.E447K|AGAP1_ENST00000336665.5_Missense_Mutation_p.E555K|AGAP1_ENST00000304032.7_Missense_Mutation_p.E608K			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	608					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GAGCCAGAGCGAGGCCATGGC	0.602													15	58					0	0	0	0	A	236949416	G	A	236949416	3	1	58	1	0	0	0	0	1	0	0	0	366	1059	37	1	1880	1	AGAP1	2	236949416	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2280006	236949416	6249957	166	10758											
ASB1	51665	broad.mit.edu	37	chr2	239342304	239342304	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcggggacctccagaccctCaggagcctattgcaagagga	10	6	13	12	1	1	2	1	0	0	2	3	5	2	5	4	4	2	1	4	4	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:239342304C>T	ENST00000264607.4	+	2	406	c.159C>T	c.(157-159)ctC>ctT	p.L53L	ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Silent_p.L53L	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	53					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		TCCAGACCCTCAGGAGCCTAT	0.607													24	64					0	0	0	0	T	239342304	C	T	239342304	2	4	58	1	0	0	0	0	0	0	0	1	1017	813	29	2		2	ASB1	2	239342304	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2392888	239342304	3857069	167	10759											
CAPN10	11132	broad.mit.edu	37	chr2	241534074	241534074	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagggagtttgacgagctCaccgttggctacccggtcac	7	9	12	13	3	3	1	3	1	0	0	3	3	3	2	2	3	2	4	2	3	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:241534074C>G	ENST00000391984.2	+	6	1141	c.945C>G	c.(943-945)ctC>ctG	p.L315L	CAPN10_ENST00000391982.2_Silent_p.L315L|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.L315L|CAPN10_ENST00000354082.4_Silent_p.L315L|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	315	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TTGACGAGCTCACCGTTGGCT	0.642													20	115					0	0	0	0	G	241534074	C	G	241534074	2	3	58	1	0	0	0	0	0	0	0	1	2648	813	29	2		2	CAPN10	2	241534074	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2191770	241534074	1665299	168	10760											
SRGAP3	9901	broad.mit.edu	37	chr3	9074387	9074387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttatggctatacactgagaGaggcctaggtctcctcattt	9	14	9	9	0	2	2	1	1	1	1	3	3	2	2	2	3	1	1	2	3	4	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:9074387G>A	ENST00000383836.3	-	12	1913	c.1486C>T	c.(1486-1488)Ctc>Ttc	p.L496F	SRGAP3_ENST00000360413.3_Intron|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	496	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TACACTGAGAGAGGCCTAGGT	0.468			T	RAF1	pilocytic astrocytoma								45	40					0	0	0	0	A	9074387	G	A	9074387	3	1	58	1	0	0	0	0	1	0	0	0	15237	942	33	2	1892	2	SRGAP3	3	9074387	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08		9074387	188948043	169	10761											
BRPF1	7862	broad.mit.edu	37	chr3	9783766	9783766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctttcctcatcctccttCgcaaaaccttggagcagctc	7	12	5	17	1	1	0	1	0	0	0	7	1	5	1	5	1	3	3	5	1	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:9783766C>T	ENST00000383829.2	+	6	2316	c.1912C>T	c.(1912-1914)Cgc>Tgc	p.R638C	BRPF1_ENST00000302054.3_Missense_Mutation_p.R638C|BRPF1_ENST00000457855.1_Missense_Mutation_p.R638C|BRPF1_ENST00000424362.1_Missense_Mutation_p.R638C|BRPF1_ENST00000433861.2_Missense_Mutation_p.R638C	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	638	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CATCCTCCTTCGCAAAACCTT	0.522													38	48					0	0	0	0	T	9783766	C	T	9783766	3	4	58	1	0	0	0	0	1	0	0	0	1528	884	31	1	1930	1	BRPF1	3	9783766	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	709379	9783766	188238664	170	10762											
TATDN2	9797	broad.mit.edu	37	chr3	10291085	10291085	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacgatgtggcttgctcgcgGaggttatcctggggctcatc	5	11	15	10	3	1	0	1	0	0	0	4	3	2	1	1	5	1	4	1	5	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:10291085G>A	ENST00000287652.4	+	2	1252	c.201G>A	c.(199-201)cgG>cgA	p.R67R	TATDN2_ENST00000448281.2_Silent_p.R67R|RP11-438J1.1_ENST00000450534.1_Silent_p.R10R	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	67						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTTGCTCGCGGAGGTTATCCT	0.652													61	70					0	0	0	0	A	10291085	G	A	10291085	2	1	58	1	0	0	0	0	0	0	0	1	15683	1161	41	2		2	TATDN2	3	10291085	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	507319	10291085	187731345	171	10763											
PLCL2	23228	broad.mit.edu	37	chr3	17056235	17056235	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaggagctgtgtggcctCtcctctgtggccaatctcat	6	13	10	12	0	4	0	2	0	3	0	6	1	4	1	3	3	1	1	3	3	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:17056235C>T	ENST00000418129.2	+	3	2937	c.2472C>T	c.(2470-2472)ctC>ctT	p.L824L	PLCL2_ENST00000396755.2_Silent_p.L824L|PLCL2_ENST00000432376.1_Silent_p.L824L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	950	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGTGTGGCCTCTCCTCTGTGG	0.488													122	161					0	0	0	0	T	17056235	C	T	17056235	2	4	58	1	0	0	0	0	0	0	0	1	12112	900	32	2		2	PLCL2	3	17056235	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6765150	17056235	180966195	172	10764											
SCN11A	11280	broad.mit.edu	37	chr3	38888746	38888746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggctgtattgaagttCtctaaaatcacagcaatgta	13	13	8	7	0	3	1	2	1	1	0	4	1	3	1	0	1	1	5	0	1	6	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:38888746C>A	ENST00000302328.3	-	26	5013	c.4815G>T	c.(4813-4815)gaG>gaT	p.E1605D	SCN11A_ENST00000450244.1_Missense_Mutation_p.E1605D|SCN11A_ENST00000456224.3_Missense_Mutation_p.E1567D	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1605					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TATTGAAGTTCTCTAAAATCA	0.408													5	164					0.184627	0.186292	1	0	A	38888746	C	A	38888746	3	1	58	1	0	0	0	0	1	0	0	0	14000	912	32	2	564	2	SCN11A	3	38888746	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	21832511	38888746	159133684	173	10765											
CSRNP1	64651	broad.mit.edu	37	chr3	39184825	39184825	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtcacaagaagacaagctGagatccactgagctactccg	14	6	10	11	1	1	4	1	2	0	3	3	6	3	4	2	0	3	2	2	0	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:39184825G>C	ENST00000273153.5	-	5	1668	c.1491C>G	c.(1489-1491)ctC>ctG	p.L497L	CSRNP1_ENST00000514182.1_Silent_p.L497L	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	497					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						AAGACAAGCTGAGATCCACTG	0.552													28	33					0	0	0	0	C	39184825	G	C	39184825	2	2	58	1	0	0	0	0	0	0	0	1	3995	1277	45	2		2	CSRNP1	3	39184825	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	296079	39184825	158837605	174	10766											
NBEAL2	23218	broad.mit.edu	37	chr3	47045664	47045664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacttgagctcttctttatCgatcaggccaactacttcct	8	14	6	13	1	3	1	1	1	2	0	5	2	4	1	2	1	3	2	2	1	3	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:47045664C>T	ENST00000450053.3	+	37	6158	c.5979C>T	c.(5977-5979)atC>atT	p.I1993I	NBEAL2_ENST00000383740.2_Silent_p.I272I|NBEAL2_ENST00000292309.5_Silent_p.I1809I	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1993							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCTTCTTTATCGATCAGGCCA	0.602													209	187					0	0	0	0	T	47045664	C	T	47045664	2	4	58	1	0	0	0	0	0	0	0	1	10259	874	31	1		1	NBEAL2	3	47045664	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	7860839	47045664	150976766	175	10767											
USP19	10869	broad.mit.edu	37	chr3	49149116	49149116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggagctcaggtggctGaatggggtctctctcgctgt	5	11	15	10	1	3	1	1	1	2	0	5	2	3	2	0	5	2	4	0	5	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49149116G>T	ENST00000453664.1	-	21	3316	c.2998C>A	c.(2998-3000)Cag>Aag	p.Q1000K	USP19_ENST00000434032.2_Missense_Mutation_p.Q1010K|USP19_ENST00000398896.1_Missense_Mutation_p.Q717K|USP19_ENST00000417901.1_Missense_Mutation_p.Q1012K|USP19_ENST00000398898.2_Missense_Mutation_p.Q949K|USP19_ENST00000398888.2_Missense_Mutation_p.Q909K|USP19_ENST00000398892.3_Missense_Mutation_p.Q949K	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	909					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCAGGTGGCTGAATGGGGTCT	0.672													55	52					6.3091e-27	6.75936e-27	1	0	T	49149116	G	T	49149116	3	4	58	1	0	0	0	0	1	0	0	0	17146	1299	45	2	1259	2	USP19	3	49149116	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2103452	49149116	148873314	176	10768											
NICN1	84276	broad.mit.edu	37	chr3	49466543	49466543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaccaggcttgctcacctCgaagggagcgacgctgggga	8	5	14	14	3	1	0	1	0	0	0	2	4	1	2	3	4	2	3	3	4	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49466543C>T	ENST00000273598.3	-	1	216	c.130G>A	c.(130-132)Gag>Aag	p.E44K	NICN1_ENST00000436744.2_Missense_Mutation_p.E44K|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	44						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTGCTCACCTCGAAGGGAGCG	0.647													24	35					0	0	0	0	T	49466543	C	T	49466543	3	4	58	1	0	0	0	0	1	0	0	0	10483	893	31	1	535	1	NICN1	3	49466543	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	317427	49466543	148555887	177	10769											
MST1	4485	broad.mit.edu	37	chr3	49723345	49723345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcactggacacccttgcGggtcttgctgaccgtgccgc	4	9	13	15	3	1	1	0	1	1	0	1	2	1	2	3	3	3	2	3	3	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49723345G>A	ENST00000449682.2	-	10	1559	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	386	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACACCCTTGCGGGTCTTGCTG	0.731													3	81					0	0	0	0	A	49723345	G	A	49723345	3	1	58	1	0	0	0	0	1	0	0	0	9960	1116	39	1	1015	1	MST1	3	49723345	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	256802	49723345	148299085	178	10770											
MST1R	4486	broad.mit.edu	37	chr3	49927430	49927430	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgggtaaggtcaaaagggtCaatgtggcggtatggtgggg	9	9	20	3	1	2	0	2	0	0	0	2	0	2	0	0	8	0	2	0	8	5	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49927430C>G	ENST00000296474.3	-	19	3901	c.3874G>C	c.(3874-3876)Gac>Cac	p.D1292H	MST1R_ENST00000344206.4_Missense_Mutation_p.D1243H	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1292	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCAAAAGGGTCAATGTGGCGG	0.597													3	91					0	0	0	0	G	49927430	C	G	49927430	3	3	58	1	0	0	0	0	1	0	0	0	9961	826	29	2	336	2	MST1R	3	49927430	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	204085	49927430	148095000	179	10771											
RBM5	10181	broad.mit.edu	37	chr3	50145726	50145726	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggattggaatctgatgcatCatctgcatcaggtagtaaac	13	11	10	7	0	4	1	2	1	2	0	4	3	4	3	0	3	3	4	0	3	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:50145726C>G	ENST00000347869.3	+	14	1356	c.1181C>G	c.(1180-1182)tCa>tGa	p.S394*	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	394	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGATGCATCATCTGCATCA	0.373													61	85					0	0	0	0	G	50145726	C	G	50145726	4	3	58	1	0	0	0	0	0	1	0	0	13225	838	29	2	1231	2	RBM5	3	50145726	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	218296	50145726	147876704	180	10772											
ALAS1	211	broad.mit.edu	37	chr3	52240616	52240616	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttactctgattctgggaaCcatgcctccatgatccaagg	10	12	8	11	0	2	2	0	2	2	0	4	3	4	3	4	2	3	0	4	2	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:52240616C>T	ENST00000394965.2	+	8	1374	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	ALAS1_ENST00000469224.1_Silent_p.N338N|ALAS1_ENST00000484952.1_Silent_p.N338N|ALAS1_ENST00000310271.2_Silent_p.N338N	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	338					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ATTCTGGGAACCATGCCTCCA	0.438													83	111					0	0	0	0	T	52240616	C	T	52240616	2	4	58	1	0	0	0	0	0	0	0	1	484	506	18	4		4	ALAS1	3	52240616	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2094890	52240616	145781814	181	10773											
CACNA1D	776	broad.mit.edu	37	chr3	53757550	53757550	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaagcatatttcgtctctCttttcaaccggtttgattgc	7	17	6	11	2	3	1	1	1	2	0	6	1	4	1	2	1	3	2	2	1	3	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:53757550C>G	ENST00000288139.3	+	14	1934	c.1816C>G	c.(1816-1818)Ctt>Gtt	p.L606V	CACNA1D_ENST00000350061.5_Missense_Mutation_p.L586V|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L586V	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	586					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTTCGTCTCTCTTTTCAACCG	0.478													12	273					0	0	0	0	G	53757550	C	G	53757550	3	3	58	1	0	0	0	0	1	0	0	0	2566	913	32	2	1978	2	CACNA1D	3	53757550	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1516934	53757550	144264880	182	10774											
ATXN7	6314	broad.mit.edu	37	chr3	63982084	63982084	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgccaaagtgccagccgtGaacaatgtccacatgaaaca	14	7	9	11	1	0	2	0	2	0	0	1	2	1	2	4	0	5	1	4	0	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:63982084G>A	ENST00000398590.3	+	12	3139	c.2586G>A	c.(2584-2586)gtG>gtA	p.V862V	ATXN7_ENST00000538065.1_Silent_p.V862V|ATXN7_ENST00000487717.1_Silent_p.V862V|ATXN7_ENST00000484332.1_Silent_p.V717V|ATXN7_ENST00000295900.6_Silent_p.V862V	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	862			V -> M (in dbSNP:rs3774729).		cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TGCCAGCCGTGAACAATGTCC	0.502													21	48					0	0	0	0	A	63982084	G	A	63982084	2	1	58	1	0	0	0	0	0	0	0	1	1219	1277	45	2		2	ATXN7	3	63982084	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	10224534	63982084	134040346	183	10775											
IMPG2	50939	broad.mit.edu	37	chr3	100976587	100976587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgatggcctcaccattGaaggtaactgcatagtaaac	12	11	9	9	0	1	2	1	2	0	0	1	2	1	2	2	2	4	4	2	2	5	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:100976587G>T	ENST00000193391.7	-	10	1126	c.939C>A	c.(937-939)ttC>ttA	p.F313L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	313	SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCTCACCATTGAAGGTAACTG	0.468													24	181					2.65835e-16	2.8162e-16	1	0	T	100976587	G	T	100976587	3	4	58	1	0	0	0	0	1	0	0	0	7782	1281	45	2	2826	2	IMPG2	3	100976587	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	36994503	100976587	97045843	184	10776											
BBX	56987	broad.mit.edu	37	chr3	107520004	107520004	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caactgagacagactgcaatGacaaatgctcacacaacacc	17	5	6	13	0	1	3	1	2	0	2	1	4	1	3	1	0	4	2	1	0	4	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:107520004G>C	ENST00000415149.2	+	16	2851	c.2524G>C	c.(2524-2526)Gac>Cac	p.D842H	BBX_ENST00000402543.1_Missense_Mutation_p.D822H|BBX_ENST00000406780.1_Missense_Mutation_p.D842H|BBX_ENST00000325805.8_Missense_Mutation_p.D872H|BBX_ENST00000416476.2_Missense_Mutation_p.M535I	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGACTGCAATGACAAATGCTC	0.507													60	83					0	0	0	0	C	107520004	G	C	107520004	3	2	58	1	0	0	0	0	1	0	0	0	1347	1290	45	2	2668	2	BBX	3	107520004	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	6543417	107520004	90502426	185	10777											
BBX	56987	broad.mit.edu	37	chr3	107520042	107520042	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	accgaggtcggggagacgcgGagcagtactccagaaatgcc	11	4	15	11	4	0	2	0	0	0	2	2	5	1	3	3	4	3	2	3	4	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:107520042G>C	ENST00000416476.2	+	16	1863	c.1643G>C	c.(1642-1644)gGa>gCa	p.G548A	BBX_ENST00000402543.1_Silent_p.R834R|BBX_ENST00000406780.1_Silent_p.R854R|BBX_ENST00000325805.8_Silent_p.R884R|BBX_ENST00000415149.2_Silent_p.R854R			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GGGAGACGCGGAGCAGTACTC	0.527													41	46					0	0	0	0	C	107520042	G	C	107520042	3	2	58	1	0	0	0	0	1	0	0	0	1347	1161	41	2	2706	2	BBX	3	107520042	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	38	107520042	90502388	186	10778											
DZIP3	9666	broad.mit.edu	37	chr3	108326985	108326985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaactgagaataagctaGaaaaatcatctggtcaactg	19	8	8	6	0	3	3	2	1	1	3	3	4	3	3	0	1	3	1	0	1	8	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108326985G>C	ENST00000361582.3	+	3	312	c.82G>C	c.(82-84)Gaa>Caa	p.E28Q	DZIP3_ENST00000463306.1_Missense_Mutation_p.E28Q	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	28					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GAATAAGCTAGAAAAATCATC	0.313													39	154					0	0	0	0	C	108326985	G	C	108326985	3	2	58	1	0	0	0	0	1	0	0	0	4901	943	33	2	88	2	DZIP3	3	108326985	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	806943	108326985	89695445	187	10779											
DZIP3	9666	broad.mit.edu	37	chr3	108393015	108393015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcagcttgccagggtgactCacatggcagcaaggtaacct	11	8	11	11	0	2	1	2	1	0	0	2	1	2	1	2	3	4	4	2	3	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108393015C>G	ENST00000361582.3	+	24	2910	c.2680C>G	c.(2680-2682)Cac>Gac	p.H894D	DZIP3_ENST00000463306.1_Missense_Mutation_p.H894D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	894					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CAGGGTGACTCACATGGCAGC	0.408													38	167					0	0	0	0	G	108393015	C	G	108393015	3	3	58	1	0	0	0	0	1	0	0	0	4901	826	29	2	2770	2	DZIP3	3	108393015	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	66030	108393015	89629415	188	10780											
MORC1	27136	broad.mit.edu	37	chr3	108746617	108746617	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggctgctgttctgccAgtctattttgatactttatg	5	18	9	9	0	2	1	0	1	2	0	2	1	2	1	2	1	3	3	2	1	3	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108746617A>T	ENST00000232603.5	-	17	1767	c.1685T>A	c.(1684-1686)cTg>cAg	p.L562Q	MORC1_ENST00000483760.1_Missense_Mutation_p.L562Q	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	562					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTGTTCTGCCAGTCTATTTTG	0.408													10	286					0	0	0	0	T	108746617	A	T	108746617	3	4	58	1	0	0	0	0	1	0	0	0	9771	188	7	5	1317	5	MORC1	3	108746617	Missense_Mutation	SNP	A	TCGA-CN-4723-01A-01D-1434-08	353602	108746617	89275813	189	10781											
MORC1	27136	broad.mit.edu	37	chr3	108812388	108812388	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tataaataaccagcaaagtaCctggtagaaaaatagatgtt	19	10	7	5	0	0	2	0	0	0	2	0	2	0	2	2	1	3	4	2	1	10	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108812388C>T	ENST00000232603.5	-	8	666	c.583_splice	c.e8-1	p.G195_splice	MORC1_ENST00000483760.1_Splice_Site_p.G195_splice	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	195					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAGCAAAGTACCTGGTAGAAA	0.348													41	51					0	0	0	0	T	108812388	C	T	108812388	5	4	58	1	0	0	0	0	0	0	1	0	9771	521	18	4	2454	4	MORC1	3	108812388	Splice_Site	SNP	C	TCGA-CN-4723-01A-01D-1434-08	65771	108812388	89210042	190	10782											
SIDT1	54847	broad.mit.edu	37	chr3	113286437	113286437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagccgcaccttatgtccctCagaagcaaccaatgagacgg	12	6	10	13	2	1	2	1	1	0	2	2	4	2	2	4	1	3	2	4	1	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:113286437C>T	ENST00000264852.4	+	3	1121	c.395C>T	c.(394-396)tCa>tTa	p.S132L	SIDT1_ENST00000393830.3_Missense_Mutation_p.S132L	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	132						integral to membrane		p.S132L(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TTATGTCCCTCAGAAGCAACC	0.473													135	169					0	0	0	0	T	113286437	C	T	113286437	3	4	58	1	0	0	0	0	1	0	0	0	14390	838	29	2	405	2	SIDT1	3	113286437	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4474049	113286437	84735993	191	10783											
PLA1A	51365	broad.mit.edu	37	chr3	119325723	119325723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttctcctctttgtcccttCgaatcctagctgtgggcagc	4	15	9	13	1	2	0	0	0	2	0	6	1	4	0	3	1	2	3	3	1	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:119325723C>T	ENST00000273371.4	+	2	248	c.176C>T	c.(175-177)tCg>tTg	p.S59L	PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000495992.1_Missense_Mutation_p.S59L|PLA1A_ENST00000494440.1_Missense_Mutation_p.S43L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	59					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTTGTCCCTTCGAATCCTAGC	0.507													68	364					0	0	0	0	T	119325723	C	T	119325723	3	4	58	1	0	0	0	0	1	0	0	0	12060	893	31	1	182	1	PLA1A	3	119325723	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6039286	119325723	78696707	192	10784											
GSK3B	2932	broad.mit.edu	37	chr3	119624670	119624670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttgtcctagtaacagctCagccaacacacagccagcag	12	7	9	13	0	1	0	1	0	0	0	2	0	2	0	3	1	6	4	3	1	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:119624670C>T	ENST00000264235.8	-	7	1727	c.745G>A	c.(745-747)Gag>Aag	p.E249K	GSK3B_ENST00000316626.5_Missense_Mutation_p.E249K	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	249	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	AGTAACAGCTCAGCCAACACA	0.388													301	428					0	0	0	0	T	119624670	C	T	119624670	3	4	58	1	0	0	0	0	1	0	0	0	6874	835	29	2	580	2	GSK3B	3	119624670	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	298947	119624670	78397760	193	10785											
FSTL1	11167	broad.mit.edu	37	chr3	120118774	120118774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatctggtcatctcctcctCtgtctgggtctgggccccct	3	14	9	15	0	6	0	1	0	5	0	8	0	7	0	4	3	0	0	4	3	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:120118774C>T	ENST00000295633.3	-	10	1194	c.838G>A	c.(838-840)Gag>Aag	p.E280K	FSTL1_ENST00000424703.2_Missense_Mutation_p.E245K	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	280	VWFC.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		ATCTCCTCCTCTGTCTGGGTC	0.542													11	20					0	0	0	0	T	120118774	C	T	120118774	3	4	58	1	0	0	0	0	1	0	0	0	6125	922	32	2	96	2	FSTL1	3	120118774	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	494104	120118774	77903656	194	10786											
PARP14	54625	broad.mit.edu	37	chr3	122447299	122447299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatacacatggaaatcattCattaattgtgcctccttcaa	13	14	4	10	0	3	0	3	0	0	0	4	1	4	1	2	1	2	0	2	1	5	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:122447299C>T	ENST00000474629.2	+	17	5527	c.5261C>T	c.(5260-5262)tCa>tTa	p.S1754L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1754	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGAAATCATTCATTAATTGTG	0.388													51	200					0	0	0	0	T	122447299	C	T	122447299	3	4	58	1	0	0	0	0	1	0	0	0	11529	838	29	2	5327	2	PARP14	3	122447299	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2328525	122447299	75575131	195	10787											
SEMA5B	54437	broad.mit.edu	37	chr3	122631079	122631079	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcccgagacagatgtcctCacctggggagggtgcggggc	7	5	17	12	2	1	2	1	0	0	2	2	4	2	3	3	5	2	0	3	5	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:122631079C>G	ENST00000195173.4	-	19	3136	c.2833G>C	c.(2833-2835)Gag>Cag	p.E945Q	SEMA5B_ENST00000451055.2_Missense_Mutation_p.E1000Q|SEMA5B_ENST00000357599.3_Missense_Mutation_p.E946Q			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	946	TSP type-1 4.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGATGTCCTCACCTGGGGAG	0.632													24	22					0	0	0	0	G	122631079	C	G	122631079	3	3	58	1	0	0	0	0	1	0	0	0	14125	835	29	2	639	2	SEMA5B	3	122631079	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	183780	122631079	75391351	196	10788											
HEG1	57493	broad.mit.edu	37	chr3	124732246	124732246	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaaagtggggcagatgtaGatgtcgttaaggatactggt	12	10	15	4	1	0	3	0	0	0	3	1	4	0	4	0	4	1	3	0	4	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:124732246G>C	ENST00000311127.4	-	6	2244	c.2177C>G	c.(2176-2178)tCt>tGt	p.S726C		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	726	Ser-rich.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGCAGATGTAGATGTCGTTAA	0.502													42	176					0	0	0	0	C	124732246	G	C	124732246	3	2	58	1	0	0	0	0	1	0	0	0	7094	942	33	2	2016	2	HEG1	3	124732246	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2101167	124732246	73290184	197	10789											
ZNF148	7707	broad.mit.edu	37	chr3	124951513	124951513	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcacctgaaaagggaaatGagtgctgtgaatcaccaact	15	8	9	9	0	2	3	2	3	0	0	2	4	2	4	2	1	2	1	2	1	5	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:124951513G>C	ENST00000360647.4	-	9	2542	c.2057C>G	c.(2056-2058)tCa>tGa	p.S686*	ZNF148_ENST00000484491.1_Nonsense_Mutation_p.S686*|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Nonsense_Mutation_p.S686*|ZNF148_ENST00000485866.1_Nonsense_Mutation_p.S686*|SLC12A8_ENST00000423114.2_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	686					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						AAAGGGAAATGAGTGCTGTGA	0.448													71	282					0	0	0	0	C	124951513	G	C	124951513	4	2	58	1	0	0	0	0	0	1	0	0	17829	1294	45	2	331	2	ZNF148	3	124951513	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	219267	124951513	73070917	198	10790											
PLXNA1	5361	broad.mit.edu	37	chr3	126736358	126736358	+	Frame_Shift_Del	DEL	C	C	-																															caccagagctgggggagcggCcggatgagctgggcttcgtc																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:126736358delC	ENST00000251772.4	+	17	3367	c.3298delC	c.(3298-3300)cgfs	p.P1100fs	PLXNA1_ENST00000393409.2_Frame_Shift_Del_p.P1123fs			Q9UIW2	PLXA1_HUMAN	plexin A1	1123	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GGGGGAGCGGCCGGATGAGCT	0.637													84	167	---	---	---	---					-	126736358	C	-	126736358	7	5	58	1	0	1	0	1	0	0	0	0	12191	739	26	0	3433	0	PLXNA1	3	126736358	Frame_Shift_Del	DEL	C	TCGA-CN-4723-01A-01D-1434-08	1784845	126736358	71286072	199	10791											
COL6A6	131873	broad.mit.edu	37	chr3	130281985	130281985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaagtccttcccatttgtGaaaatgttcatcaccaaaat	13	13	4	11	0	2	1	2	1	0	0	5	1	5	1	4	0	0	1	4	0	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:130281985G>A	ENST00000358511.6	+	2	169	c.138G>A	c.(136-138)gtG>gtA	p.V46V	COL6A6_ENST00000453409.2_Silent_p.V46V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	46	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCCATTTGTGAAAATGTTCA	0.473													5	343					0	0	0	0	A	130281985	G	A	130281985	2	1	58	1	0	0	0	0	0	0	0	1	3733	1277	45	2		2	COL6A6	3	130281985	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3545627	130281985	67740445	200	10792											
ATP2C1	27032	broad.mit.edu	37	chr3	130686024	130686024	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tataatcaatttggggaagtGattgttgatggtgatgttgt	10	17	13	1	0	1	3	1	3	0	0	1	4	1	4	0	3	0	2	0	3	4	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:130686024G>C	ENST00000510168.1	+	15	1708	c.1158G>C	c.(1156-1158)gtG>gtC	p.V386V	ATP2C1_ENST00000422190.2_Silent_p.V386V|ATP2C1_ENST00000507488.2_Silent_p.V370V|ATP2C1_ENST00000393221.4_Silent_p.V420V|ATP2C1_ENST00000504948.1_Silent_p.V370V|ATP2C1_ENST00000504381.1_Silent_p.V331V|ATP2C1_ENST00000508532.1_Silent_p.V386V|ATP2C1_ENST00000505330.1_Silent_p.V370V|ATP2C1_ENST00000328560.8_Silent_p.V386V|ATP2C1_ENST00000359644.3_Silent_p.V386V|ATP2C1_ENST00000533801.2_Silent_p.V381V|ATP2C1_ENST00000513801.1_Silent_p.V370V|ATP2C1_ENST00000428331.2_Silent_p.V386V			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	386					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTGGGGAAGTGATTGTTGATG	0.358									Hailey-Hailey disease				99	495					0	0	0	0	C	130686024	G	C	130686024	2	2	58	1	0	0	0	0	0	0	0	1	1147	1277	45	2		2	ATP2C1	3	130686024	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	404039	130686024	67336406	201	10793											
CPNE4	131034	broad.mit.edu	37	chr3	131404721	131404721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgaagatgactcttacctCagttcggtgcaccagctgct	8	11	10	12	1	2	3	1	2	1	1	3	3	2	3	2	1	4	5	2	1	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:131404721C>T	ENST00000512055.1	-	10	2715	c.589G>A	c.(589-591)Gag>Aag	p.E197K	CPNE4_ENST00000502818.1_Missense_Mutation_p.E215K|CPNE4_ENST00000511604.1_Missense_Mutation_p.E197K|CPNE4_ENST00000429747.1_Missense_Mutation_p.E197K|CPNE4_ENST00000512332.1_Missense_Mutation_p.E215K			Q96A23	CPNE4_HUMAN	copine IV	197	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ACTCTTACCTCAGTTCGGTGC	0.388													15	85					0	0	0	0	T	131404721	C	T	131404721	3	4	58	1	0	0	0	0	1	0	0	0	3844	835	29	2	1128	2	CPNE4	3	131404721	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	718697	131404721	66617709	202	10794											
ESYT3	83850	broad.mit.edu	37	chr3	138178802	138178802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagttgcagggcaccctgCgggtcatcctggagcccctc	5	8	12	16	1	1	0	1	0	0	0	4	1	3	1	5	3	3	3	5	3	0	1	rs62282904		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:138178802C>T	ENST00000389567.4	+	6	850	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	ESYT3_ENST00000289135.4_Missense_Mutation_p.R222W	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	222						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGGCACCCTGCGGGTCATCCT	0.632													53	148					0	0	0	0	T	138178802	C	T	138178802	3	4	58	1	0	0	0	0	1	0	0	0	5304	759	27	1	686	1	ESYT3	3	138178802	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6774081	138178802	59843628	203	10795											
XRN1	54464	broad.mit.edu	37	chr3	142151555	142151555	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctcgaggagccacaccatCtacagccataaagaacactt	14	7	7	13	1	1	1	0	0	1	1	2	3	1	2	3	1	5	1	3	1	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:142151555C>G	ENST00000264951.4	-	2	373	c.256G>C	c.(256-258)Gat>Cat	p.D86H	XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000392981.2_Missense_Mutation_p.D86H|XRN1_ENST00000463916.1_Missense_Mutation_p.D86H	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	86					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GCCACACCATCTACAGCCATA	0.348													25	47					0	0	0	0	G	142151555	C	G	142151555	3	3	58	1	0	0	0	0	1	0	0	0	17555	913	32	2	5028	2	XRN1	3	142151555	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3972753	142151555	55870875	204	10796											
PAQR9	344838	broad.mit.edu	37	chr3	142681653	142681653	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagctgaggcctggcaacaGgtagtagtagtaggccaccg	11	6	14	10	1	0	1	0	1	0	0	0	1	0	1	3	4	2	6	3	4	6	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:142681653G>C	ENST00000340634.3	-	1	525	c.526C>G	c.(526-528)Ctg>Gtg	p.L176V		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	176						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CCTGGCAACAGGTAGTAGTAG	0.622													4	45					0	0	0	0	C	142681653	G	C	142681653	3	2	58	1	0	0	0	0	1	0	0	0	11513	991	35	4	611	4	PAQR9	3	142681653	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	530098	142681653	55340777	205	10797											
PLOD2	5352	broad.mit.edu	37	chr3	145804659	145804659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatttcatgcttagctttatCaaaaaataccttgatgtcct	12	16	5	8	0	2	1	2	1	0	0	3	2	3	1	2	0	3	2	2	0	6	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:145804659C>T	ENST00000282903.5	-	10	1219	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	PLOD2_ENST00000360060.3_Missense_Mutation_p.D348N|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.D293N	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	348					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTAGCTTTATCAAAAAATACC	0.284													13	28					0	0	0	0	T	145804659	C	T	145804659	3	4	58	1	0	0	0	0	1	0	0	0	12174	826	29	2	1278	2	PLOD2	3	145804659	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3123006	145804659	52217771	206	10798											
PLSCR2	57047	broad.mit.edu	37	chr3	146173093	146173093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttccagagttatgacttctCgacccacattatcagtaatc	11	14	5	11	1	2	2	1	1	1	1	5	3	3	2	2	0	0	2	2	0	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:146173093C>T	ENST00000497985.1	-	6	912	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	PLSCR2_ENST00000336685.2_Missense_Mutation_p.R85Q	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	85					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TATGACTTCTCGACCCACATT	0.418													47	242					0	0	0	0	T	146173093	C	T	146173093	3	4	58	1	0	0	0	0	1	0	0	0	12182	884	31	1	436	1	PLSCR2	3	146173093	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	368434	146173093	51849337	207	10799											
IGSF10	285313	broad.mit.edu	37	chr3	151155740	151155740	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccagaatcgagcagtttCactttgttgatggtcaaaga	11	13	9	8	1	3	3	2	1	1	2	5	4	3	3	1	1	1	3	1	1	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:151155740C>T	ENST00000282466.3	-	6	6608	c.6609G>A	c.(6607-6609)gtG>gtA	p.V2203V	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2203	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGAGCAGTTTCACTTTGTTGA	0.418													128	215					0	0	0	0	T	151155740	C	T	151155740	2	4	58	1	0	0	0	0	0	0	0	1	7650	813	29	2		2	IGSF10	3	151155740	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4982647	151155740	46866690	208	10800											
SHOX2	6474	broad.mit.edu	37	chr3	157820574	157820574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccagctcattgagttgttCcagggtgaaattggtccgac	8	12	11	10	1	1	2	1	2	0	0	4	3	4	2	3	2	1	3	3	2	1	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:157820574C>T	ENST00000490689.2	-	2	1594	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	SHOX2_ENST00000483851.2_Missense_Mutation_p.E150K|SHOX2_ENST00000441443.2_Missense_Mutation_p.E21K|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000389589.4_Missense_Mutation_p.E174K|SHOX2_ENST00000425436.3_Missense_Mutation_p.E150K			O60902	SHOX2_HUMAN	short stature homeobox 2	150					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E21*(1)|p.E174*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTGAGTTGTTCCAGGGTGAAA	0.572													40	236					0	0	0	0	T	157820574	C	T	157820574	3	4	58	1	0	0	0	0	1	0	0	0	14377	864	30	2	563	2	SHOX2	3	157820574	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6664834	157820574	40201856	209	10801											
IFT80	57560	broad.mit.edu	37	chr3	160000298	160000298	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttgttcttccttcccaaatCgtttcacagaagtgatacag	10	15	6	10	1	2	2	1	1	1	1	5	2	4	2	2	0	1	2	2	0	3	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:160000298C>G	ENST00000326448.7	-	14	1916	c.1484G>C	c.(1483-1485)cGa>cCa	p.R495P	IFT80_ENST00000483465.1_Missense_Mutation_p.R358P|IFT80_ENST00000496589.1_Missense_Mutation_p.R358P|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R666P	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	495						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTCCCAAATCGTTTCACAGA	0.269													8	90					0	0	0	0	G	160000298	C	G	160000298	3	3	58	1	0	0	0	0	1	0	0	0	7617	884	31	3	877	3	IFT80	3	160000298	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2179724	160000298	38022132	210	10802											
SMC4	10051	broad.mit.edu	37	chr3	160120484	160120484	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcttttcctgtattatcggGccaaatggcagtggcaaatc	9	12	10	10	2	0	0	0	0	0	0	3	0	1	0	2	3	0	4	2	3	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:160120484G>A	ENST00000357388.3	+	4	790	c.339G>A	c.(337-339)ggG>ggA	p.G113G	SMC4_ENST00000360111.2_Silent_p.G113G|SMC4_ENST00000462787.1_Silent_p.G113G|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Silent_p.G113G|SMC4_ENST00000469762.1_Silent_p.G88G	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	113					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTATTATCGGGCCAAATGGCA	0.328													8	416					0	0	0	0	A	160120484	G	A	160120484	2	1	58	1	0	0	0	0	0	0	0	1	14873	1190	42	4		4	SMC4	3	160120484	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	120186	160120484	37901946	211	10803											
ECT2	1894	broad.mit.edu	37	chr3	172486838	172486838	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtcttctaaaagctccactCcagttccttcaaagcagtca	12	11	5	13	0	4	0	2	0	2	0	7	0	7	0	3	0	2	3	3	0	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:172486838C>G	ENST00000417960.1	+	13	1714	c.1237C>G	c.(1237-1239)Cca>Gca	p.P413A	ECT2_ENST00000392692.3_Missense_Mutation_p.P445A|ECT2_ENST00000232458.5_Missense_Mutation_p.P414A|ECT2_ENST00000540509.1_Missense_Mutation_p.P445A|ECT2_ENST00000441497.2_Missense_Mutation_p.P414A|ECT2_ENST00000427830.1_Missense_Mutation_p.P414A	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	414					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAGCTCCACTCCAGTTCCTTC	0.348													4	233					0	0	0	0	G	172486838	C	G	172486838	3	3	58	1	0	0	0	0	1	0	0	0	4937	855	30	2	1282	2	ECT2	3	172486838	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	12366354	172486838	25535592	212	10804											
NLGN1	22871	broad.mit.edu	37	chr3	173998755	173998755	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgatgttcacaggagaTgcagccctcagcgcactact	11	8	10	12	1	2	2	2	1	0	1	2	4	2	2	1	1	4	3	1	1	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:173998755T>C	ENST00000457714.1	+	7	2563	c.2134T>C	c.(2134-2136)Tgc>Cgc	p.C712R	NLGN1_ENST00000545397.1_Missense_Mutation_p.C712R|NLGN1_ENST00000401917.3_Missense_Mutation_p.C752R|NLGN1_ENST00000361589.4_Missense_Mutation_p.C712R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	729					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCACAGGAGATGCAGCCCTCA	0.453													83	72					0	0	0	0	C	173998755	T	C	173998755	3	2	58	1	0	0	0	0	1	0	0	0	10531	1464	51	5	2152	5	NLGN1	3	173998755	Missense_Mutation	SNP	T	TCGA-CN-4723-01A-01D-1434-08	1511917	173998755	24023675	213	10805											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			27	148					0	0	0	0	A	178936091	G	A	178936091	3	1	58	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4937336	178936091	19086339	214	10806											
GNB4	59345	broad.mit.edu	37	chr3	179123134	179123134	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttgatctgcacgaaggtCaaagagccggcaagtggcat	11	8	12	10	2	3	2	1	1	2	1	3	3	3	2	1	3	2	3	1	3	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:179123134C>G	ENST00000232564.3	-	9	1046	c.760G>C	c.(760-762)Gac>Cac	p.D254H	GNB4_ENST00000468623.1_Missense_Mutation_p.D254H	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	254					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GCACGAAGGTCAAAGAGCCGG	0.418													47	106					0	0	0	0	G	179123134	C	G	179123134	3	3	58	1	0	0	0	0	1	0	0	0	6571	826	29	2	270	2	GNB4	3	179123134	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	187043	179123134	18899296	215	10807											
PEX5L	51555	broad.mit.edu	37	chr3	179533749	179533749	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttaagccttcttcaaatgctCcaggccagtccttgaagggg	9	11	10	11	0	2	1	1	1	1	0	4	1	4	1	4	3	2	1	4	3	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:179533749C>G	ENST00000467460.1	-	10	1313	c.983G>C	c.(982-984)gGa>gCa	p.G328A	PEX5L_ENST00000468741.1_Missense_Mutation_p.G136A|PEX5L_ENST00000485199.1_Missense_Mutation_p.G293A|PEX5L_ENST00000476138.1_Missense_Mutation_p.G285A|PEX5L_ENST00000263962.8_Missense_Mutation_p.G326A|PEX5L_ENST00000472994.1_Missense_Mutation_p.G269A|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.G304A|PEX5L_ENST00000464614.1_Missense_Mutation_p.G220A|PEX5L_ENST00000392649.3_Missense_Mutation_p.G220A	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	328					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTCAAATGCTCCAGGCCAGTC	0.473													24	213					0	0	0	0	G	179533749	C	G	179533749	3	3	58	1	0	0	0	0	1	0	0	0	11821	855	30	2	921	2	PEX5L	3	179533749	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	410615	179533749	18488681	216	10808											
PEX5L	51555	broad.mit.edu	37	chr3	179597738	179597738	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tagatctaaggatgaagtctCcgggactctgagaggctggc	10	9	14	8	1	3	3	0	2	3	2	4	6	3	5	1	4	0	1	1	4	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:179597738C>G	ENST00000467460.1	-	5	814	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	PEX5L_ENST00000468741.1_5'UTR|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000485199.1_Missense_Mutation_p.E127Q|PEX5L_ENST00000476138.1_Missense_Mutation_p.E119Q|PEX5L_ENST00000263962.8_Missense_Mutation_p.E160Q|PEX5L_ENST00000472994.1_Missense_Mutation_p.E103Q|PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000465751.1_Missense_Mutation_p.E138Q|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000392649.3_Intron	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	162					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GATGAAGTCTCCGGGACTCTG	0.512													30	177					0	0	0	0	G	179597738	C	G	179597738	3	3	58	1	0	0	0	0	1	0	0	0	11821	864	30	2	1440	2	PEX5L	3	179597738	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	63989	179597738	18424692	217	10809											
HTR3D	200909	broad.mit.edu	37	chr3	183756393	183756393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaataagggcccgggtctCacccccacccacctgcccgg	8	4	11	18	2	1	0	1	0	1	0	2	1	1	1	6	4	1	0	6	4	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183756393C>T	ENST00000382489.3	+	7	1116	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	HTR3D_ENST00000334128.2_Silent_p.L197L|HTR3D_ENST00000428798.2_Silent_p.L322L|HTR3D_ENST00000453435.1_Silent_p.L151L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	372						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCCCGGGTCTCACCCCCACCC	0.642													5	77					0	0	0	0	T	183756393	C	T	183756393	2	4	58	1	0	0	0	0	0	0	0	1	7500	813	29	2		2	HTR3D	3	183756393	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4158655	183756393	14266037	218	10810											
HTR3C	170572	broad.mit.edu	37	chr3	183777329	183777329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctacctgccagcagagagcGagaatcgtgccccattcaag	11	7	10	13	2	2	2	1	0	1	2	3	4	2	2	4	0	5	1	4	0	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183777329G>A	ENST00000318351.1	+	7	860	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	276						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGCAGAGAGCGAGAATCGTGC	0.547													55	317					0	0	0	0	A	183777329	G	A	183777329	3	1	58	1	0	0	0	0	1	0	0	0	7499	1059	37	1	852	1	HTR3C	3	183777329	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	20936	183777329	14245101	219	10811											
HTR3C	170572	broad.mit.edu	37	chr3	183777427	183777427	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccagtggcacccccctcatCagtatggctcctcccacttt	6	10	7	18	0	2	0	2	0	0	0	4	0	4	0	6	2	0	3	6	2	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183777427C>T	ENST00000318351.1	+	7	958	c.925_splice	c.e7+1	p.I308_splice		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	308						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCCCCCTCATCAGTATGGCTC	0.587													47	353					0	0	0	0	T	183777427	C	T	183777427	5	4	58	1	0	0	0	0	0	0	1	0	7499	840	29	2	950	2	HTR3C	3	183777427	Splice_Site	SNP	C	TCGA-CN-4723-01A-01D-1434-08	98	183777427	14245003	220	10812											
AP2M1	1173	broad.mit.edu	37	chr3	183896864	183896864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactttggcaagatcagcgaGgaaaacatcaagaacaattt	17	9	8	7	1	2	2	2	0	0	2	2	4	2	3	0	2	4	1	0	2	7	3	rs71798037		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183896864G>C	ENST00000382456.3	+	3	608	c.294G>C	c.(292-294)gaG>gaC	p.E98D	AP2M1_ENST00000439647.1_Missense_Mutation_p.E98D|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000292807.5_Missense_Mutation_p.E98D|AP2M1_ENST00000411763.2_Missense_Mutation_p.E123D	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	98					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGATCAGCGAGGAAAACATCA	0.522													47	341					0	0	0	0	C	183896864	G	C	183896864	3	2	58	1	0	0	0	0	1	0	0	0	743	991	35	4	300	4	AP2M1	3	183896864	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	119437	183896864	14125566	221	10813											
PSMD2	5708	broad.mit.edu	37	chr3	184026289	184026289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggtggctgccatgcaGccccgaatgctggttacgtt	5	10	15	11	2	0	0	0	0	0	0	0	1	0	0	3	4	5	6	3	4	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:184026289G>A	ENST00000310118.4	+	20	3036	c.2478G>A	c.(2476-2478)caG>caA	p.Q826Q	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.Q696Q|PSMD2_ENST00000435761.1_Silent_p.Q667Q	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	826					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTGCCATGCAGCCCCGAATGC	0.537											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	157	264					0	0	0	0	A	184026289	G	A	184026289	2	1	58	1	0	0	0	0	0	0	0	1	12777	962	34	4		4	PSMD2	3	184026289	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	129425	184026289	13996141	222	10814											
EIF4G1	1981	broad.mit.edu	37	chr3	184033995	184033995	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaaatgaacacgccttctCagccccgccaggtgaggggc	10	5	11	15	2	1	2	1	2	1	0	2	2	1	2	4	3	2	0	4	3	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:184033995C>T	ENST00000342981.4	+	3	550	c.136C>T	c.(136-138)Cag>Tag	p.Q46*	EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.Q46*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.Q6*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.Q6*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.Q46*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.Q46*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.Q46*|EIF4G1_ENST00000427845.1_Intron|EIF4G1_ENST00000392537.2_Intron|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.Q46*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	46					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACGCCTTCTCAGCCCCGCCA	0.617													12	114					0	0	0	0	T	184033995	C	T	184033995	4	4	58	1	0	0	0	0	0	1	0	0	5074	827	29	2	142	2	EIF4G1	3	184033995	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	7706	184033995	13988435	223	10815											
MAP3K13	9175	broad.mit.edu	37	chr3	185198141	185198141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtcctgatgagttagctGataaacttgaagaccgcttg	12	11	10	8	1	0	5	0	4	0	1	1	5	1	5	2	0	2	3	2	0	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:185198141G>A	ENST00000265026.3	+	13	2957	c.2623G>A	c.(2623-2625)Gat>Aat	p.D875N	MAP3K13_ENST00000446828.1_Missense_Mutation_p.D668N|MAP3K13_ENST00000443863.1_Missense_Mutation_p.D731N|MAP3K13_ENST00000535426.1_Missense_Mutation_p.D731N|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D875N|TMEM41A_ENST00000475480.1_5'UTR	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	875					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGAGTTAGCTGATAAACTTGA	0.483													82	211					0	0	0	0	A	185198141	G	A	185198141	3	1	58	1	0	0	0	0	1	0	0	0	9316	1290	45	2	2669	2	MAP3K13	3	185198141	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1164146	185198141	12824289	224	10816											
MAP3K13	9175	broad.mit.edu	37	chr3	185200197	185200197	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcagatggggagtgttctGatgccacagttaggaccaat	10	11	12	8	0	2	2	1	1	1	1	2	4	2	4	2	3	1	2	2	3	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:185200197G>C	ENST00000265026.3	+	14	3188	c.2854G>C	c.(2854-2856)Gat>Cat	p.D952H	MAP3K13_ENST00000446828.1_Missense_Mutation_p.D745H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.D808H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.D808H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D952H|TMEM41A_ENST00000475480.1_Intron	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	952					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAGTGTTCTGATGCCACAGT	0.433													6	582					0	0	0	0	C	185200197	G	C	185200197	3	2	58	1	0	0	0	0	1	0	0	0	9316	1290	45	2	2904	2	MAP3K13	3	185200197	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2056	185200197	12822233	225	10817											
ATP13A4	84239	broad.mit.edu	37	chr3	193220359	193220359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggtcaggagtgagacCaaatgcgctgtttaatgctg	10	10	15	6	1	1	1	1	1	0	1	1	3	1	2	1	3	2	3	1	3	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:193220359C>T	ENST00000342695.4	-	3	626	c.304G>A	c.(304-306)Ggt>Agt	p.G102S	ATP13A4_ENST00000295548.3_Missense_Mutation_p.G102S|ATP13A4_ENST00000392443.3_Missense_Mutation_p.G102S	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	102					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGAGTGAGACCAAATGCGCTG	0.408													139	88					0	0	0	0	T	193220359	C	T	193220359	3	4	58	1	0	0	0	0	1	0	0	0	1130	594	21	4	3398	4	ATP13A4	3	193220359	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	8020162	193220359	4802071	226	10818											
ATP13A3	79572	broad.mit.edu	37	chr3	194140610	194140610	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtgcttaagtcttacctGaagaacctggtcaacagagg	12	10	11	8	0	2	3	1	1	1	2	2	4	2	3	2	2	4	1	2	2	5	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:194140610G>A	ENST00000439040.1	-	31	4191	c.3400C>T	c.(3400-3402)Cag>Tag	p.Q1134*	ATP13A3_ENST00000256031.4_Nonsense_Mutation_p.Q1134*			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1134					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AGTCTTACCTGAAGAACCTGG	0.318													43	168					0	0	0	0	A	194140610	G	A	194140610	4	1	58	1	0	0	0	0	0	1	0	0	1129	1299	45	2	292	2	ATP13A3	3	194140610	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	920251	194140610	3881820	227	10819											
SENP5	205564	broad.mit.edu	37	chr3	196656542	196656542	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacgacagtgactgtggagtCtttgtgctccaggtaaagaa	12	10	12	7	1	1	2	0	1	1	1	2	4	2	3	1	2	2	2	1	2	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:196656542C>G	ENST00000323460.5	+	9	2394	c.2145C>G	c.(2143-2145)gtC>gtG	p.V715V	SENP5_ENST00000445299.2_Silent_p.V669V|SENP5_ENST00000419026.1_Silent_p.V205V	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	715	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		ACTGTGGAGTCTTTGTGCTCC	0.393													42	116					0	0	0	0	G	196656542	C	G	196656542	2	3	58	1	0	0	0	0	0	0	0	1	14136	900	32	2		2	SENP5	3	196656542	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2515932	196656542	1365888	228	10820											
KIAA0226	9711	broad.mit.edu	37	chr3	197420604	197420604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttggatttcaaattcatCaacctcatcagcagagccag	13	10	6	12	0	5	1	5	0	0	1	5	2	5	2	3	1	3	1	3	1	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:197420604C>T	ENST00000273582.5	-	12	2178	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	KIAA0226_ENST00000296343.5_Missense_Mutation_p.D590N|KIAA0226_ENST00000389665.5_Missense_Mutation_p.D590N	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	590					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)		TCAAATTCATCAACCTCATCA	0.428													25	108					0	0	0	0	T	197420604	C	T	197420604	3	4	58	1	0	0	0	0	1	0	0	0	8213	826	29	2	1190	2	KIAA0226	3	197420604	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	764062	197420604	601826	229	10821											
PDE6B	5158	broad.mit.edu	37	chr4	651154	651154	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccagtccctgacacagttCctgggctggtcagtgatgaa	8	10	11	12	0	1	3	1	3	0	0	4	3	4	3	3	2	0	2	3	2	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:651154C>T	ENST00000255622.6	+	10	1315	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	PDE6B_ENST00000496514.1_Silent_p.F424F|PDE6B_ENST00000429163.2_Silent_p.F145F	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	424	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TGACACAGTTCCTGGGCTGGT	0.622													16	26					0	0	0	0	T	651154	C	T	651154	2	4	58	1	0	0	0	0	0	0	0	1	11717	854	30	2		2	PDE6B	4	651154	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08		651154	190503122	230	10822											
DGKQ	1609	broad.mit.edu	37	chr4	955487	955487	+	Missense_Mutation	SNP	G	G	C																															cgcgagcacctggggatgttGatgaagatgaggccttcaat																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:955487G>C	ENST00000273814.3	-	20	2524	c.2451C>G	c.(2449-2451)atC>atG	p.I817M		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	817					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGGGGATGTTGATGAAGATGA	0.652													16	32					0	0	0	0	C	955487	G	C	955487	3	2	58	1	0	0	0	0	1	0	0	0	4510	1280	45	2	393	2	DGKQ	4	955487	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	304333	955487	190198789	231	10823	94	2									
DGKQ	1609	broad.mit.edu	37	chr4	955492	955492	+	Missense_Mutation	SNP	A	A	G																															gcacctggggatgttgatgaAgatgaggccttcaatactgg																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:955492A>G	ENST00000273814.3	-	20	2519	c.2446T>C	c.(2446-2448)Ttc>Ctc	p.F816L		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	816					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATGTTGATGAAGATGAGGCCT	0.662													16	34					0	0	0	0	G	955492	A	G	955492	3	3	58	1	0	0	0	0	1	0	0	0	4510	72	3	5	398	5	DGKQ	4	955492	Missense_Mutation	SNP	A	TCGA-CN-4723-01A-01D-1434-08	5	955492	190198784	232	10824	94	2									
JAKMIP1	152789	broad.mit.edu	37	chr4	6114560	6114560	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcgggcttctcgcccttgctCcggcctttcttcgacatgct	2	14	9	16	4	2	0	0	0	2	0	6	1	3	0	3	2	2	3	3	2	0	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:6114560C>G	ENST00000409021.3	-	2	467	c.18G>C	c.(16-18)cgG>cgC	p.R6R	JAKMIP1_ENST00000409371.3_Silent_p.R6R|JAKMIP1_ENST00000282924.5_Silent_p.R6R|JAKMIP1_ENST00000409831.1_Silent_p.R6R|JAKMIP1_ENST00000410077.2_Silent_p.R6R|JAKMIP1_ENST00000457227.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	6	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCCCTTGCTCCGGCCTTTCT	0.632													24	44					0	0	0	0	G	6114560	C	G	6114560	2	3	58	1	0	0	0	0	0	0	0	1	7993	842	30	2		2	JAKMIP1	4	6114560	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5159068	6114560	185039716	233	10825											
DRD5	1816	broad.mit.edu	37	chr4	9784235	9784235	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcgggctggacctgccAaacaacctggccaactggac	9	5	14	13	1	0	0	0	0	0	0	0	2	0	2	4	6	4	1	4	6	3	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:9784235A>G	ENST00000304374.2	+	1	978	c.582A>G	c.(580-582)ccA>ccG	p.P194P		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	194					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGGACCTGCCAAACAACCTGG	0.607													38	49					0	0	0	0	G	9784235	A	G	9784235	2	3	58	1	0	0	0	0	0	0	0	1	4796	117	5	5		5	DRD5	4	9784235	Silent	SNP	A	TCGA-CN-4723-01A-01D-1434-08	3669675	9784235	181370041	234	10826											
WDR19	57728	broad.mit.edu	37	chr4	39233560	39233560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaatgttggcatagtgatgtCcttggaacaaataaaggtaa	16	11	10	4	0	0	1	0	1	0	0	1	2	1	2	1	3	1	3	1	3	7	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:39233560C>T	ENST00000399820.3	+	18	2280	c.2126C>T	c.(2125-2127)tCc>tTc	p.S709F	WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Missense_Mutation_p.S549F	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	709					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						ATAGTGATGTCCTTGGAACAA	0.348													29	78					0	0	0	0	T	39233560	C	T	39233560	3	4	58	1	0	0	0	0	1	0	0	0	17375	855	30	2	2196	2	WDR19	4	39233560	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	29449325	39233560	151920716	235	10827											
LRRC66	339977	broad.mit.edu	37	chr4	52860790	52860790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccagggtgacaggccctCagatctatcagtgtcagagg	9	7	15	10	0	4	3	3	1	1	2	4	3	4	3	2	4	0	0	2	4	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:52860790C>T	ENST00000343457.3	-	4	2404	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	800						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GACAGGCCCTCAGATCTATCA	0.473													18	49					0	0	0	0	T	52860790	C	T	52860790	3	4	58	1	0	0	0	0	1	0	0	0	9082	835	29	2	248	2	LRRC66	4	52860790	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	13627230	52860790	138293486	236	10828											
RASL11B	65997	broad.mit.edu	37	chr4	53731941	53731941	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtttaagcaagccctctCtgccaaagtgaggactgtca	11	9	11	10	0	2	1	1	1	1	0	3	3	2	2	2	2	3	2	2	2	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:53731941C>A	ENST00000248706.3	+	4	934	c.716C>A	c.(715-717)tCt>tAt	p.S239Y	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	239	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CAAGCCCTCTCTGCCAAAGTG	0.567													21	62					4.26978e-12	4.46947e-12	1	0	A	53731941	C	A	53731941	3	1	58	1	0	0	0	0	1	0	0	0	13164	913	32	2	730	2	RASL11B	4	53731941	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	871151	53731941	137422335	237	10829											
PDGFRA	5156	broad.mit.edu	37	chr4	55136804	55136804	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcctttttttaaaaggtatCgaagcaaattaaagctgatc	15	14	6	6	1	0	1	0	1	0	0	3	2	1	1	1	1	2	3	1	1	7	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:55136804C>T	ENST00000257290.5	+	8	1457	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	376	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TAAAAGGTATCGAAGCAAATT	0.318			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			26	91					0	0	0	0	T	55136804	C	T	55136804	4	4	58	1	0	0	0	0	0	1	0	0	11732	876	31	1	1152	1	PDGFRA	4	55136804	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1404863	55136804	136017472	238	10830											
SRD5A3	79644	broad.mit.edu	37	chr4	56225583	56225583	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggtgccttactcaatctCtgttcctgggagcacctttt	5	17	8	11	0	2	0	1	0	1	0	4	1	3	1	3	2	3	2	3	2	2	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:56225583C>T	ENST00000264228.4	+	2	520	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L	SRD5A3_ENST00000514398.1_3'UTR	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	98					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			TACTCAATCTCTGTTCCTGGG	0.478													104	289					0	0	0	0	T	56225583	C	T	56225583	2	4	58	1	0	0	0	0	0	0	0	1	15230	912	32	2		2	SRD5A3	4	56225583	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1088779	56225583	134928693	239	10831											
CEP135	9662	broad.mit.edu	37	chr4	56847543	56847543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctttaagagaaaaattaGaggtaagaagattgacatgt	19	10	10	2	0	0	5	0	1	0	4	0	6	0	5	0	1	1	2	0	1	7	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:56847543G>C	ENST00000257287.4	+	13	1901	c.1777G>C	c.(1777-1779)Gag>Cag	p.E593Q		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	593					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAAATTAGAGGTAAGAAG	0.323													50	164					0	0	0	0	C	56847543	G	C	56847543	3	2	58	1	0	0	0	0	1	0	0	0	3276	943	33	2	1823	2	CEP135	4	56847543	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	621960	56847543	134306733	240	10832											
UGT2B4	7363	broad.mit.edu	37	chr4	70361538	70361538	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagagctaaagtaacagctCagctgtatcagcagaagagc	15	6	10	10	0	2	3	2	0	0	3	2	3	2	3	1	0	6	6	1	0	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:70361538C>T	ENST00000305107.6	-	1	88	c.42G>A	c.(40-42)ctG>ctA	p.L14L	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.L14L	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	14					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AGTAACAGCTCAGCTGTATCA	0.453													83	228					0	0	0	0	T	70361538	C	T	70361538	2	4	58	1	0	0	0	0	0	0	0	1	17057	813	29	2		2	UGT2B4	4	70361538	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	13513995	70361538	120792738	241	10833											
UGT2A1	10941	broad.mit.edu	37	chr4	70512724	70512724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgtaggtggtaggagatGaaatttcttattctgtcagt	9	16	11	5	0	3	2	1	1	2	1	4	3	4	2	1	3	0	2	1	3	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:70512724G>C	ENST00000503640.1	-	1	694	c.639C>G	c.(637-639)ttC>ttG	p.F213L	UGT2A1_ENST00000514019.1_Missense_Mutation_p.F213L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.F213L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.F213L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	213					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GGTAGGAGATGAAATTTCTTA	0.368													35	124					0	0	0	0	C	70512724	G	C	70512724	3	2	58	1	0	0	0	0	1	0	0	0	17049	1281	45	2	968	2	UGT2A1	4	70512724	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	151186	70512724	120641552	242	10834											
GC	2638	broad.mit.edu	37	chr4	72634073	72634073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cacagcaggcttcggtcaagGagacaacttccttcacaagt	12	8	9	12	1	2	1	2	0	0	1	4	2	3	1	1	3	2	2	1	3	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:72634073G>C	ENST00000273951.8	-	3	549	c.206C>G	c.(205-207)tCc>tGc	p.S69C	GC_ENST00000504199.1_Missense_Mutation_p.S88C|GC_ENST00000513476.1_Missense_Mutation_p.S69C|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	69	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTCGGTCAAGGAGACAACTTC	0.522													15	41					0	0	0	0	C	72634073	G	C	72634073	3	2	58	1	0	0	0	0	1	0	0	0	6331	1174	41	2	1258	2	GC	4	72634073	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2121349	72634073	118520203	243	10835											
FRAS1	80144	broad.mit.edu	37	chr4	79321968	79321968	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagatcaccaacagaatCttacaggccgaggctcctgg	11	7	10	13	1	2	2	1	0	1	2	3	3	3	2	3	3	3	2	3	3	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:79321968C>T	ENST00000264895.6	+	30	4496	c.4056C>T	c.(4054-4056)atC>atT	p.I1352I	FRAS1_ENST00000325942.6_Silent_p.I1352I	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1351					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCAACAGAATCTTACAGGCCG	0.458													18	47					0	0	0	0	T	79321968	C	T	79321968	2	4	58	1	0	0	0	0	0	0	0	1	6089	903	32	2		2	FRAS1	4	79321968	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6687895	79321968	111832308	244	10836											
FGF5	2250	broad.mit.edu	37	chr4	81188026	81188026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcagccacctgatcctCagcgcctgggctcacgggga	6	9	11	15	2	4	1	3	1	1	0	5	2	5	2	4	3	2	1	4	3	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:81188026C>T	ENST00000456523.3	+	1	234	c.48C>T	c.(46-48)ctC>ctT	p.L16L	FGF5_ENST00000312465.7_Silent_p.L16L	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	16					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						ACCTGATCCTCAGCGCCTGGG	0.612													26	93					0	0	0	0	T	81188026	C	T	81188026	2	4	58	1	0	0	0	0	0	0	0	1	5900	813	29	2		2	FGF5	4	81188026	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1866058	81188026	109966250	245	10837											
HPSE	10855	broad.mit.edu	37	chr4	84234362	84234362	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccactgcaaatctgctgttCttaataacgcatttaggcca	11	13	6	11	1	2	0	0	0	2	0	3	0	3	0	2	1	3	4	2	1	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:84234362C>G	ENST00000405413.2	-	5	714	c.578G>C	c.(577-579)aGa>aCa	p.R193T	HPSE_ENST00000512196.1_Missense_Mutation_p.R193T|HPSE_ENST00000513463.1_Intron|HPSE_ENST00000311412.5_Missense_Mutation_p.R193T	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	193					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	ATCTGCTGTTCTTAATAACGC	0.423													32	58					0	0	0	0	G	84234362	C	G	84234362	3	3	58	1	0	0	0	0	1	0	0	0	7394	913	32	2	1089	2	HPSE	4	84234362	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3046336	84234362	106919914	246	10838											
WDFY3	23001	broad.mit.edu	37	chr4	85617224	85617224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacttgaccctcataaaaaaGatgatggaagacatttacag	17	9	7	8	0	1	4	1	2	0	2	1	5	1	5	1	1	1	0	1	1	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:85617224G>C	ENST00000322366.6	-	57	9156	c.8749C>G	c.(8749-8751)Ctt>Gtt	p.L2917V	WDFY3_ENST00000295888.4_Missense_Mutation_p.L2934V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2934	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCATAAAAAAGATGATGGAAG	0.413													49	139					0	0	0	0	C	85617224	G	C	85617224	3	2	58	1	0	0	0	0	1	0	0	0	17366	942	33	2	1824	2	WDFY3	4	85617224	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1382862	85617224	105537052	247	10839											
WDFY3	23001	broad.mit.edu	37	chr4	85617288	85617288	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttataaccgaagattaaGtcaatccactcatgtagatg	14	13	7	7	1	2	2	2	0	0	2	3	3	3	2	2	0	1	2	2	0	6	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:85617288G>C	ENST00000322366.6	-	57	9092	c.8685C>G	c.(8683-8685)gaC>gaG	p.D2895E	WDFY3_ENST00000295888.4_Missense_Mutation_p.D2912E			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2912	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CGAAGATTAAGTCAATCCACT	0.408													51	169					0	0	0	0	C	85617288	G	C	85617288	3	2	58	1	0	0	0	0	1	0	0	0	17366	1020	36	4	1888	4	WDFY3	4	85617288	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	64	85617288	105536988	248	10840											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916572	86916572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttttttggggggaactttGaggaccctgttttggatggg	6	15	15	5	0	0	1	0	1	0	0	0	4	0	4	1	6	1	1	1	6	1	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:86916572G>A	ENST00000395184.1	+	9	2231	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.E494K|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.E496K	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	589					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GGGGAACTTTGAGGACCCTGT	0.557													51	130					0	0	0	0	A	86916572	G	A	86916572	3	1	58	1	0	0	0	0	1	0	0	0	875	1291	45	2	1911	2	ARHGAP24	4	86916572	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1299284	86916572	104237704	249	10841											
HERC5	51191	broad.mit.edu	37	chr4	89421102	89421102	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaaacacttctggatgatGaaggtgataactttgaggaa	14	11	11	5	0	1	4	0	4	1	0	1	6	1	6	0	3	3	1	0	3	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:89421102G>C	ENST00000264350.3	+	19	2623	c.2470G>C	c.(2470-2472)Gaa>Caa	p.E824Q	HERC5_ENST00000508159.1_Missense_Mutation_p.E462Q	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	824	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TCTGGATGATGAAGGTGATAA	0.289													29	103					0	0	0	0	C	89421102	G	C	89421102	3	2	58	1	0	0	0	0	1	0	0	0	7111	1291	45	2	2544	2	HERC5	4	89421102	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2504530	89421102	101733174	250	10842											
NAP1L5	266812	broad.mit.edu	37	chr4	89618627	89618627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatcaaatttggcttctatCttatcgcatcgcttctgcag	8	17	6	10	2	4	0	1	0	3	0	6	0	4	0	0	1	1	4	0	1	4	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:89618627C>G	ENST00000323061.5	-	1	759	c.279G>C	c.(277-279)aaG>aaC	p.K93N	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	93					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TGGCTTCTATCTTATCGCATC	0.458													68	138					0	0	0	0	G	89618627	C	G	89618627	3	3	58	1	0	0	0	0	1	0	0	0	10230	912	32	2	273	2	NAP1L5	4	89618627	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	197525	89618627	101535649	251	10843											
PDHA2	5161	broad.mit.edu	37	chr4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcgtgggccttgaggccgGcataaacccctcggatcacg	7	8	13	13	4	1	1	1	1	0	0	2	2	1	2	4	4	2	1	4	4	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTTGAGGCCGGCATAAACCCC	0.517													5	194					0	0	0	0	A	96761615	G	A	96761615	3	1	58	1	0	0	0	0	1	0	0	0	11736	1203	42	4	316	4	PDHA2	4	96761615	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	7142988	96761615	94392661	252	10844											
ADH5	128	broad.mit.edu	37	chr4	100006310	100006310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggggtgccacctctatctCctctatggagagaggctttc	6	12	12	11	0	3	1	0	0	3	1	5	3	3	2	3	4	1	1	3	4	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:100006310C>T	ENST00000296412.8	-	2	120	c.70G>A	c.(70-72)Gag>Aag	p.E24K	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	24					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	ACCTCTATCTCCTCTATGGAG	0.453													10	6					0	0	0	0	T	100006310	C	T	100006310	3	4	58	1	0	0	0	0	1	0	0	0	311	864	30	2	1086	2	ADH5	4	100006310	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3244695	100006310	91147966	253	10845											
CENPE	1062	broad.mit.edu	37	chr4	104054926	104054926	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtacatcacaatcttgttGaaggtgctgtattttaatta	11	17	8	5	0	2	1	1	1	1	0	2	1	2	1	0	2	2	4	0	2	6	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:104054926G>A	ENST00000265148.3	-	41	6735	c.6646C>T	c.(6646-6648)Caa>Taa	p.Q2216*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.Q2095*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2216	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAATCTTGTTGAAGGTGCTGT	0.289													13	32					0	0	0	0	A	104054926	G	A	104054926	4	1	58	1	0	0	0	0	0	1	0	0	3259	1299	45	2	1495	2	CENPE	4	104054926	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4048616	104054926	87099350	254	10846											
ANK2	287	broad.mit.edu	37	chr4	114280341	114280341	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaaaatctgccacctgttGagaccgagcactcagttcct	10	11	8	12	1	2	2	1	2	1	1	3	4	3	2	4	0	2	3	4	0	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:114280341G>C	ENST00000357077.4	+	38	10620	c.10567G>C	c.(10567-10569)Gag>Cag	p.E3523Q	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E3490Q|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3490					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCCACCTGTTGAGACCGAGCA	0.468													56	152					0	0	0	0	C	114280341	G	C	114280341	3	2	58	1	0	0	0	0	1	0	0	0	621	1291	45	2	10782	2	ANK2	4	114280341	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	10225415	114280341	76873935	255	10847											
PRSS12	8492	broad.mit.edu	37	chr4	119256647	119256647	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatgggaaaagctacacgtGacagcagctgccatcttctg	11	8	10	12	1	2	1	0	1	2	0	2	2	2	2	2	1	5	3	2	1	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:119256647G>C	ENST00000296498.3	-	3	1083	c.801C>G	c.(799-801)gtC>gtG	p.V267V		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	267	SRCR 1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGCTACACGTGACAGCAGCTG	0.403													32	134					0	0	0	0	C	119256647	G	C	119256647	2	2	58	1	0	0	0	0	0	0	0	1	12694	1277	45	2		2	PRSS12	4	119256647	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4976306	119256647	71897629	256	10848											
PDE5A	8654	broad.mit.edu	37	chr4	120419875	120419875	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcaaagggaaacagtcctCtgacacgtgggtcagggcct	11	7	13	10	1	2	1	1	1	1	0	3	2	3	2	2	3	2	1	2	3	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:120419875C>G	ENST00000354960.3	-	21	2828	c.2509G>C	c.(2509-2511)Gag>Cag	p.E837Q	PDE5A_ENST00000264805.5_Missense_Mutation_p.E795Q|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.E785Q	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	837	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.E837K(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAACAGTCCTCTGACACGTGG	0.502													50	138					0	0	0	0	G	120419875	C	G	120419875	3	3	58	1	0	0	0	0	1	0	0	0	11715	922	32	2	122	2	PDE5A	4	120419875	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1163228	120419875	70734401	257	10849											
KIAA1109	84162	broad.mit.edu	37	chr4	123167863	123167863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttatgtttgttacaagcctCagtggaagaatctccaacta	12	13	7	9	0	2	1	1	0	1	1	3	2	2	2	2	1	3	2	2	1	7	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:123167863C>T	ENST00000264501.4	+	34	5583	c.5210C>T	c.(5209-5211)tCa>tTa	p.S1737L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1737L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1737L			Q2LD37	K1109_HUMAN	KIAA1109	1737					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTACAAGCCTCAGTGGAAGAA	0.378													30	124					0	0	0	0	T	123167863	C	T	123167863	3	4	58	1	0	0	0	0	1	0	0	0	8259	838	29	2	5336	2	KIAA1109	4	123167863	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2747988	123167863	67986413	258	10850											
KIAA1109	84162	broad.mit.edu	37	chr4	123245661	123245661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcatttctgcttctggaaGaccacctcttaagcgaatgg	11	11	9	10	1	3	1	0	0	3	1	3	3	3	2	2	2	3	2	2	2	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:123245661G>A	ENST00000264501.4	+	64	11247	c.10874G>A	c.(10873-10875)aGa>aAa	p.R3625K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R3625K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R3625K			Q2LD37	K1109_HUMAN	KIAA1109	3625					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCTTCTGGAAGACCACCTCTT	0.378													18	78					0	0	0	0	A	123245661	G	A	123245661	3	1	58	1	0	0	0	0	1	0	0	0	8259	942	33	2	11120	2	KIAA1109	4	123245661	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	77798	123245661	67908615	259	10851											
FAT4	79633	broad.mit.edu	37	chr4	126329825	126329825	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actaccatcagagtttatttCaatattctagatgtaaatga	15	15	5	6	0	3	3	2	1	1	2	3	3	3	3	1	0	1	2	1	0	7	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:126329825C>T	ENST00000394329.3	+	4	5809	c.5796C>T	c.(5794-5796)ttC>ttT	p.F1932F	FAT4_ENST00000335110.5_Silent_p.F230F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1932	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGTTTATTTCAATATTCTAG	0.348													50	149					0	0	0	0	T	126329825	C	T	126329825	2	4	58	1	0	0	0	0	0	0	0	1	5737	825	29	2		2	FAT4	4	126329825	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3084164	126329825	64824451	260	10852											
FAT4	79633	broad.mit.edu	37	chr4	126411784	126411784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatattcctcacaactcaGaaaccatccccagcgcccct	11	8	4	18	1	2	2	2	1	0	1	4	2	4	2	6	0	3	0	6	0	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:126411784G>C	ENST00000394329.3	+	17	13820	c.13807G>C	c.(13807-13809)Gaa>Caa	p.E4603Q	FAT4_ENST00000335110.5_Missense_Mutation_p.E2844Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4603					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCACAACTCAGAAACCATCCC	0.493													23	74					0	0	0	0	C	126411784	G	C	126411784	3	2	58	1	0	0	0	0	1	0	0	0	5737	943	33	2	13873	2	FAT4	4	126411784	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	81959	126411784	64742492	261	10853											
INTU	27152	broad.mit.edu	37	chr4	128626859	128626859	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagaattggtcagttgatCatatggagagaagtgtttcc	13	12	11	5	0	2	3	2	1	0	2	3	5	3	4	1	2	0	2	1	2	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:128626859C>G	ENST00000335251.5	+	11	1783	c.1680C>G	c.(1678-1680)atC>atG	p.I560M	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	560										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GTCAGTTGATCATATGGAGAG	0.443													29	319					0	0	0	0	G	128626859	C	G	128626859	3	3	58	1	0	0	0	0	1	0	0	0	7839	816	29	2	1722	2	INTU	4	128626859	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2215075	128626859	62527417	262	10854											
MFSD8	256471	broad.mit.edu	37	chr4	128863250	128863250	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acatgcttatgtttgccatgGaacttgttctttcctgaagg	8	16	9	8	0	1	1	0	1	1	0	2	2	2	2	2	2	3	3	2	2	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:128863250G>C	ENST00000296468.3	-	6	630	c.503C>G	c.(502-504)tCc>tGc	p.S168C	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.S123C|MFSD8_ENST00000541133.1_Missense_Mutation_p.S123C	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	168					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GTTTGCCATGGAACTTGTTCT	0.353													35	189					0	0	0	0	C	128863250	G	C	128863250	3	2	58	1	0	0	0	0	1	0	0	0	9607	1174	41	2	1085	2	MFSD8	4	128863250	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	236391	128863250	62291026	263	10855											
TTC29	83894	broad.mit.edu	37	chr4	147741384	147741384	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcaagtatttaattgcttCtgtcatctctccttggctag	7	19	6	9	0	4	0	2	0	2	0	6	0	5	0	1	1	1	3	1	1	4	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:147741384C>G	ENST00000513335.1	-	11	1271	c.1072G>C	c.(1072-1074)Gaa>Caa	p.E358Q	TTC29_ENST00000398886.4_Missense_Mutation_p.E358Q|TTC29_ENST00000325106.4_Missense_Mutation_p.E332Q			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	332							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTAATTGCTTCTGTCATCTCT	0.353													8	55					0	0	0	0	G	147741384	C	G	147741384	3	3	58	1	0	0	0	0	1	0	0	0	16792	922	32	2	449	2	TTC29	4	147741384	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	18878134	147741384	43412892	264	10856											
ARHGAP10	79658	broad.mit.edu	37	chr4	148944413	148944413	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctttatgctttgttggaaGatttttcggacgccgcccga	6	15	10	10	4	0	1	0	0	0	1	2	4	1	3	3	2	1	2	3	2	2	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:148944413G>C	ENST00000336498.3	+	19	1955		c.e19-1		ARHGAP10_ENST00000414545.2_Splice_Site	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10						apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTTGTTGGAAGATTTTTCGGA	0.483													3	102					0	0	0	0	C	148944413	G	C	148944413	5	2	58	1	0	0	0	0	0	0	1	0	864	956	33	2	1790	2	ARHGAP10	4	148944413	Splice_Site	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1203029	148944413	42209863	265	10857											
LRBA	987	broad.mit.edu	37	chr4	151186875	151186875	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtacagctgtcaccatCagtagcgggtttggtattca	9	13	11	8	1	3	1	3	1	0	0	3	1	3	1	1	2	3	5	1	2	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:151186875C>A	ENST00000535741.1	-	57	9031	c.8558G>T	c.(8557-8559)tGa>tTa	p.*2853L	LRBA_ENST00000357115.3_Nonstop_Mutation_p.*2864L|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Nonstop_Mutation_p.*2852L			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGTCACCATCAGTAGCGGGT	0.448													13	25					4.3838e-07	4.52344e-07	1	0	A	151186875	C	A	151186875	4	1	58	1	0	0	0	0	0	0	0	0	8995	837	29	2	4	2	LRBA	4	151186875	Nonstop_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2242462	151186875	39967401	266	10858											
LRBA	987	broad.mit.edu	37	chr4	151509251	151509251	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcatccacctcaaaataGagttcggaggaggtgacaga	13	9	10	9	1	3	3	2	1	1	2	5	5	4	5	2	3	0	1	2	3	3	3	rs4613549		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:151509251G>C	ENST00000535741.1	-	40	6752	c.6279C>G	c.(6277-6279)ctC>ctG	p.L2093L	LRBA_ENST00000357115.3_Silent_p.L2104L|LRBA_ENST00000510413.1_Silent_p.L2093L|LRBA_ENST00000507224.1_Silent_p.L2093L			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2104						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CCTCAAAATAGAGTTCGGAGG	0.473													5	289					0	0	0	0	C	151509251	G	C	151509251	2	2	58	1	0	0	0	0	0	0	0	1	8995	929	33	2		2	LRBA	4	151509251	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	322376	151509251	39645025	267	10859											
DCHS2	54798	broad.mit.edu	37	chr4	155155862	155155862	+	Frame_Shift_Del	DEL	G	G	-																															ggcagagaaccaagatggtaGgggatgggagagcgtgggtg																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:155155862delG	ENST00000357232.3	-	25	8576	c.8577delC	c.(8575-8577)ccfs	p.P2859fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2859					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGATGGTAGGGGATGGGAG	0.542													47	189	---	---	---	---					-	155155862	G	-	155155862	7	5	58	1	0	1	0	1	0	0	0	0	4320	987	35	0	177	0	DCHS2	4	155155862	Frame_Shift_Del	DEL	G	TCGA-CN-4723-01A-01D-1434-08	3646611	155155862	35998414	268	10860											
RXFP1	59350	broad.mit.edu	37	chr4	159568311	159568311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttcattcagaagatacaGaaagtattggagcccagatt	14	11	8	8	0	3	4	2	0	1	4	3	5	3	5	1	1	2	1	1	1	4	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:159568311G>A	ENST00000307765.5	+	16	1965	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	RXFP1_ENST00000343542.5_Missense_Mutation_p.E524K|RXFP1_ENST00000448688.2_Missense_Mutation_p.E467K|RXFP1_ENST00000460056.2_Missense_Mutation_p.E491K|RXFP1_ENST00000470033.1_Missense_Mutation_p.E539K	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	572						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGAAGATACAGAAAGTATTGG	0.333													30	89					0	0	0	0	A	159568311	G	A	159568311	3	1	58	1	0	0	0	0	1	0	0	0	13844	943	33	2	1776	2	RXFP1	4	159568311	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4412449	159568311	31585965	269	10861											
HAND2	9464	broad.mit.edu	37	chr4	174449901	174449901	+	Silent	SNP	C	C	T																															ctgaccagctccttcttcctCttctcctctttcacgtcggt																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:174449901C>T	ENST00000359562.4	-	1	1479	c.540G>A	c.(538-540)aaG>aaA	p.K180K	HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	180					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CCTTCTTCCTCTTCTCCTCTT	0.602													6	28					0	0	0	0	T	174449901	C	T	174449901	2	4	58	1	0	0	0	0	0	0	0	1	7000	912	32	2		2	HAND2	4	174449901	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	14881590	174449901	16704375	270	10862	95	2									
HAND2	9464	broad.mit.edu	37	chr4	174449906	174449906	+	Nonsense_Mutation	SNP	C	C	A																															cagctccttcttcctcttctCctctttcacgtcggtcttct																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:174449906C>A	ENST00000359562.4	-	1	1474	c.535G>T	c.(535-537)Gag>Tag	p.E179*	HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	179					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTCCTCTTCTCCTCTTTCACG	0.612													6	27					0.00116845	0.00119168	1	0	A	174449906	C	A	174449906	4	1	58	1	0	0	0	0	0	1	0	0	7000	864	30	2	126	2	HAND2	4	174449906	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5	174449906	16704370	271	10863	95	2									
SORBS2	8470	broad.mit.edu	37	chr4	186556511	186556511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaataacgtgtttttacctCattgaaaacaccagaagaat	17	11	6	7	1	1	4	1	1	0	3	1	4	1	4	2	0	3	1	2	0	7	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:186556511C>T	ENST00000448662.2	-	11	1132	c.946G>A	c.(946-948)Gag>Aag	p.E316K	SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000393528.3_Missense_Mutation_p.E321K|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000319471.9_Missense_Mutation_p.E386K|SORBS2_ENST00000418609.1_Intron|SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Missense_Mutation_p.E479K|SORBS2_ENST00000284776.7_Intron	NM_001145672.1	NP_001139144.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	228						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTTTTTACCTCATTGAAAACA	0.418													14	38					0	0	0	0	T	186556511	C	T	186556511	3	4	58	1	0	0	0	0	1	0	0	0	15016	835	29	2	2668	2	SORBS2	4	186556511	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	12106605	186556511	4597765	272	10864											
SLC6A18	348932	broad.mit.edu	37	chr5	1239639	1239639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctctctgtccctggccttCggaggacacatcgcttttgc	4	14	9	14	2	2	0	0	0	2	0	6	2	3	2	2	3	1	1	2	3	0	4	rs137936927	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:1239639C>T	ENST00000324642.3	+	6	930	c.807C>T	c.(805-807)ttC>ttT	p.F269F	SLC6A18_ENST00000296821.4_Silent_p.F264F	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	269					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)			CCCTGGCCTTCGGAGGACACA	0.592													6	259					0	0	0	0	T	1239639	C	T	1239639	2	4	58	1	0	0	0	0	0	0	0	1	14769	883	31	1		1	SLC6A18	5	1239639	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08		1239639	179675621	273	10865											
C5orf38	153571	broad.mit.edu	37	chr5	2755246	2755246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggccccggaggctcgggctCggggtctccccggggacgcg	2	4	19	16	7	1	0	0	0	1	0	4	2	1	2	4	8	0	2	4	8	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:2755246C>T	ENST00000397835.4	+	3	437	c.437C>T	c.(436-438)tCg>tTg	p.S146L	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	54						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GGCTCGGGCTCGGGGTCTCCC	0.716													9	38					0	0	0	0	T	2755246	C	T	2755246	3	4	58	1	0	0	0	0	1	0	0	0	2317	899	31	1		1	C5orf38	5	2755246	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1515607	2755246	178160014	274	10866											
KIAA0947	23379	broad.mit.edu	37	chr5	5461061	5461061	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttctccccttggcaaaagGccattaaatgaactcatgga	12	11	7	11	0	3	1	1	1	2	0	4	2	3	2	3	3	1	1	3	3	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:5461061G>A	ENST00000296564.7	+	13	1836	c.1614G>A	c.(1612-1614)agG>agA	p.R538R		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	538										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTGGCAAAAGGCCATTAAATG	0.448													74	267					0	0	0	0	A	5461061	G	A	5461061	2	1	58	1	0	0	0	0	0	0	0	1	8253	1194	42	4		4	KIAA0947	5	5461061	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2705815	5461061	175454199	275	10867											
NSUN2	54888	broad.mit.edu	37	chr5	6632078	6632078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttaagcaatggagaatCtcttttgcgtggctattgaa	10	16	9	6	1	2	2	0	1	2	1	3	3	2	2	0	2	2	2	0	2	5	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:6632078C>G	ENST00000264670.6	-	3	578	c.267G>C	c.(265-267)gaG>gaC	p.E89D	NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Intron	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	89						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AATGGAGAATCTCTTTTGCGT	0.353													58	244					0	0	0	0	G	6632078	C	G	6632078	3	3	58	1	0	0	0	0	1	0	0	0	10749	912	32	2	2104	2	NSUN2	5	6632078	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1171017	6632078	174283182	276	10868											
SEMA5A	9037	broad.mit.edu	37	chr5	9044561	9044561	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtattaaggggggcaggtGagacggggtggatgacagtc	9	8	20	4	1	0	2	0	2	0	1	1	4	0	3	0	8	0	2	0	8	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:9044561G>T	ENST00000382496.5	-	22	3694	c.3029C>A	c.(3028-3030)tCa>tAa	p.S1010*	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1010					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGGGGCAGGTGAGACGGGGTG	0.527													68	228					4.60868e-44	5.0029e-44	1	0	T	9044561	G	T	9044561	4	4	58	1	0	0	0	0	0	1	0	0	14124	1294	45	2	203	2	SEMA5A	5	9044561	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2412483	9044561	171870699	277	10869											
PDZD2	23037	broad.mit.edu	37	chr5	32037440	32037440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatcaagctcaagagtcGcctttcaggtaggtgggggc	11	9	13	8	1	3	1	3	0	0	1	4	1	3	1	1	4	1	2	1	4	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:32037440G>A	ENST00000438447.1	+	7	1899	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	PDZD2_ENST00000282493.3_Missense_Mutation_p.R504H			O15018	PDZD2_HUMAN	PDZ domain containing 2	504					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCAAGAGTCGCCTTTCAGGT	0.547													9	39					0	0	0	0	A	32037440	G	A	32037440	3	1	58	1	0	0	0	0	1	0	0	0	11772	1087	38	1	1533	1	PDZD2	5	32037440	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	22992879	32037440	148877820	278	10870											
NPR3	4883	broad.mit.edu	37	chr5	32789775	32789775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcaaggcacatgtgccttCtttgccccaaatgcatcact	10	11	6	14	0	3	0	2	0	1	0	3	0	3	0	3	1	3	2	3	1	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:32789775C>T	ENST00000326958.1	+	1	831	c.268C>T	c.(268-270)Ctt>Ttt	p.L90F	NPR3_ENST00000265074.8_3'UTR																							CATGTGCCTTCTTTGCCCCAA	0.403													51	195					0	0	0	0	T	32789775	C	T	32789775	3	4	58	1	0	0	0	0	1	0	0	0	10667	913	32	2		2	NPR3	5	32789775	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	752335	32789775	148125485	279	10871											
AGXT2	64902	broad.mit.edu	37	chr5	35010167	35010167	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggacgtctccaacaatttCaaattcatcccgcagcttag	11	11	6	13	3	3	0	2	0	1	0	6	1	4	1	2	1	2	2	2	1	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:35010167C>A	ENST00000231420.6	-	12	1476	c.1276G>T	c.(1276-1278)Gaa>Taa	p.E426*		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	426					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CCAACAATTTCAAATTCATCC	0.428													43	184					8.20599e-20	8.74595e-20	1	0	A	35010167	C	A	35010167	4	1	58	1	0	0	0	0	0	1	0	0	405	835	29	2	280	2	AGXT2	5	35010167	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2220392	35010167	145905093	280	10872											
CAPSL	133690	broad.mit.edu	37	chr5	35910094	35910094	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatacttcacgaaggtcttcGattgttataacaccatctcc	11	14	5	11	2	3	0	1	0	2	0	5	2	3	0	2	1	2	1	2	1	5	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:35910094G>A	ENST00000397367.2	-	4	525	c.399C>T	c.(397-399)atC>atT	p.I133I	CAPSL_ENST00000397366.1_Silent_p.I133I|CAPSL_ENST00000514524.1_Silent_p.I133I	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	133	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GAAGGTCTTCGATTGTTATAA	0.383													62	211					0	0	0	0	A	35910094	G	A	35910094	2	1	58	1	0	0	0	0	0	0	0	1	2664	1048	37	1		1	CAPSL	5	35910094	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	899927	35910094	145005166	281	10873											
NUP155	9631	broad.mit.edu	37	chr5	37302930	37302930	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcaccatcggcagctattGatgaaatggcagtggaactt	12	11	10	8	1	1	2	1	2	0	0	2	3	1	3	1	3	2	3	1	3	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:37302930G>C	ENST00000231498.3	-	29	3601	c.3398C>G	c.(3397-3399)tCa>tGa	p.S1133*	NUP155_ENST00000381843.2_Nonsense_Mutation_p.S1074*|NUP155_ENST00000513532.1_Nonsense_Mutation_p.S1069*|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1133					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCAGCTATTGATGAAATGGC	0.408													51	212					0	0	0	0	C	37302930	G	C	37302930	4	2	58	1	0	0	0	0	0	1	0	0	10827	1294	45	2	805	2	NUP155	5	37302930	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1392836	37302930	143612330	282	10874											
C9	735	broad.mit.edu	37	chr5	39364534	39364534	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcttatttctaaaatgcaGattgcaactgcaaagctccg	13	12	7	9	1	1	1	0	0	1	1	2	1	2	1	1	0	6	5	1	0	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:39364534G>C	ENST00000263408.4	-	1	128	c.33C>G	c.(31-33)atC>atG	p.I11M	C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	11					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTAAAATGCAGATTGCAACTG	0.502													26	116					0	0	0	0	C	39364534	G	C	39364534	3	2	58	1	0	0	0	0	1	0	0	0	2468	932	33	2	1690	2	C9	5	39364534	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2061604	39364534	141550726	283	10875											
PTGER4	5734	broad.mit.edu	37	chr5	40681095	40681095	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcaccgccagccactatCatgtccactcccggggtcaa	8	7	9	17	3	2	0	2	0	0	0	4	0	4	0	5	2	2	1	5	2	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:40681095C>A	ENST00000302472.3	+	0	1024				PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)						G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CAGCCACTATCATGTCCACTC	0.602											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	111					6.3237e-29	6.80461e-29	1	0	A	40681095	C	A	40681095	1	1	58	1	0	0	0	0	0	0	0	0	12825	841	29	2		2	PTGER4	5	40681095	Translation_Start_Site	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1316561	40681095	140234165	284	10876											
NNT	23530	broad.mit.edu	37	chr5	43659377	43659377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgcagagggcttcctgctCaacaacaatctgctgaccat	10	10	9	12	0	2	2	1	1	1	1	3	2	3	2	2	1	5	4	2	1	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:43659377C>T	ENST00000264663.5	+	17	2780	c.2559C>T	c.(2557-2559)ctC>ctT	p.L853L	NNT_ENST00000512996.2_Silent_p.L722L|NNT_ENST00000344920.4_Silent_p.L853L	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	853					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GCTTCCTGCTCAACAACAATC	0.512													34	113					0	0	0	0	T	43659377	C	T	43659377	2	4	58	1	0	0	0	0	0	0	0	1	10580	813	29	2		2	NNT	5	43659377	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2978282	43659377	137255883	285	10877											
HCN1	348980	broad.mit.edu	37	chr5	45262789	45262789	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggataattgatgggagcgAttgcctgcaccatctccctg	9	10	12	10	1	1	1	0	1	1	0	2	5	1	3	3	2	3	1	3	2	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:45262789A>T	ENST00000303230.4	-	8	1964	c.1907T>A	c.(1906-1908)aTc>aAc	p.I636N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	636						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GATGGGAGCGATTGCCTGCAC	0.478													41	139					0	0	0	0	T	45262789	A	T	45262789	3	4	58	1	0	0	0	0	1	0	0	0	7046	333	12	5	769	5	HCN1	5	45262789	Missense_Mutation	SNP	A	TCGA-CN-4723-01A-01D-1434-08	1603412	45262789	135652471	286	10878											
HCN1	348980	broad.mit.edu	37	chr5	45396681	45396681	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atggcatagcaggtggccccGacgatcatgctcagcatggt	9	8	13	11	2	2	0	2	0	0	0	2	2	2	0	2	4	3	4	2	4	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:45396681G>C	ENST00000303230.4	-	4	1200	c.1143C>G	c.(1141-1143)gtC>gtG	p.V381V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	381						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGTGGCCCCGACGATCATGC	0.507													24	60					0	0	0	0	C	45396681	G	C	45396681	2	2	58	1	0	0	0	0	0	0	0	1	7046	1045	37	3		3	HCN1	5	45396681	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	133892	45396681	135518579	287	10879											
PARP8	79668	broad.mit.edu	37	chr5	50073932	50073932	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccattgatgatgtagataTtgatctgcatatcgatgtta	12	15	9	5	1	1	4	0	3	1	1	2	5	1	4	1	0	2	3	1	0	4	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:50073932T>G	ENST00000281631.5	+	8	706	c.548T>G	c.(547-549)aTt>aGt	p.I183S	PARP8_ENST00000514067.2_Missense_Mutation_p.I183S|PARP8_ENST00000503750.2_Missense_Mutation_p.I183S|PARP8_ENST00000505554.1_Missense_Mutation_p.I162S|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_De_novo_Start_InFrame|PARP8_ENST00000505697.2_Missense_Mutation_p.I183S	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	183						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GATGTAGATATTGATCTGCAT	0.279													18	51					0	0	0	0	G	50073932	T	G	50073932	3	3	58	1	0	0	0	0	1	0	0	0	11536	1493	52	5	578	5	PARP8	5	50073932	Missense_Mutation	SNP	T	TCGA-CN-4723-01A-01D-1434-08	4677251	50073932	130841328	288	10880											
ITGA2	3673	broad.mit.edu	37	chr5	52367846	52367846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcactagccctgcccttGaagcctattctgagactgcc	7	10	9	15	0	1	2	0	2	1	1	1	3	1	2	4	1	4	1	4	1	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:52367846G>A	ENST00000296585.5	+	18	2457	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	772					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CCCTGCCCTTGAAGCCTATTC	0.468													18	49					0	0	0	0	A	52367846	G	A	52367846	3	1	58	1	0	0	0	0	1	0	0	0	7928	1291	45	2	2384	2	ITGA2	5	52367846	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2293914	52367846	128547414	289	10881											
DHX29	54505	broad.mit.edu	37	chr5	54569133	54569133	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttaccttcctgactccTggagggggaagtgtgaatgc	9	12	12	8	0	0	2	0	2	0	0	2	4	2	4	3	3	2	0	3	3	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:54569133T>A	ENST00000251636.5	-	17	2911	c.2763A>T	c.(2761-2763)ccA>ccT	p.P921P	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	921	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TCCTGACTCCTGGAGGGGGAA	0.363													27	70					0	0	0	0	A	54569133	T	A	54569133	2	1	58	1	0	0	0	0	0	0	0	1	4540	1567	55	5		5	DHX29	5	54569133	Silent	SNP	T	TCGA-CN-4723-01A-01D-1434-08	2201287	54569133	126346127	290	10882											
IPO11	51194	broad.mit.edu	37	chr5	61779927	61779927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatatgtagaagattagtctCtcattatttcctattaactg	12	17	6	6	0	2	2	1	0	1	2	4	3	3	2	1	0	1	1	1	0	7	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:61779927C>G	ENST00000325324.6	+	11	1281	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.S411C	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	371						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AGATTAGTCTCTCATTATTTC	0.343													6	159					0	0	0	0	G	61779927	C	G	61779927	3	3	58	1	0	0	0	0	1	0	0	0	7846	913	32	2	1274	2	IPO11	5	61779927	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	7210794	61779927	119135333	291	10883											
TRIM23	373	broad.mit.edu	37	chr5	64910040	64910040	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcaatccccagacacctGaatcacctagaataaatata	16	11	3	11	0	2	3	2	1	0	2	3	3	3	3	4	0	0	0	4	0	8	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:64910040G>C	ENST00000231524.9	-	3	622	c.251C>G	c.(250-252)tCa>tGa	p.S84*	TRIM23_ENST00000381018.3_Nonsense_Mutation_p.S84*|TRIM23_ENST00000274327.7_Nonsense_Mutation_p.S84*	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	84					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CCAGACACCTGAATCACCTAG	0.328													47	101					0	0	0	0	C	64910040	G	C	64910040	4	2	58	1	0	0	0	0	0	1	0	0	16592	1294	45	2	1576	2	TRIM23	5	64910040	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3130113	64910040	116005220	292	10884											
CD180	4064	broad.mit.edu	37	chr5	66479408	66479408	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaatcgaggagttctagCtgaggacattctttgaatgc	11	11	11	8	1	2	2	0	2	2	0	3	5	2	4	1	2	2	2	1	2	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:66479408C>G	ENST00000256447.4	-	3	1420	c.1263G>C	c.(1261-1263)caG>caC	p.Q421H		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	421					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGAGTTCTAGCTGAGGACATT	0.458													78	221					0	0	0	0	G	66479408	C	G	66479408	3	3	58	1	0	0	0	0	1	0	0	0	3001	796	28	4	726	4	CD180	5	66479408	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1569368	66479408	114435852	293	10885											
POLK	51426	broad.mit.edu	37	chr5	74892778	74892778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctactgtttcattggaaaacGaagatgttggatcatttaga	13	14	9	5	1	2	2	2	0	0	2	2	5	2	4	0	2	2	2	0	2	5	6	rs143539365	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:74892778G>A	ENST00000241436.4	+	13	2432	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K	POLK_ENST00000508526.1_Missense_Mutation_p.E556K|POLK_ENST00000504026.1_Intron|POLK_ENST00000352007.5_Missense_Mutation_p.E556K|POLK_ENST00000380481.3_Missense_Mutation_p.E664K|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	754					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		ATTGGAAAACGAAGATGTTGG	0.368								DNA polymerases (catalytic subunits)					13	204					0	0	0	0	A	74892778	G	A	74892778	3	1	58	1	0	0	0	0	1	0	0	0	12276	1059	37	1	2306	1	POLK	5	74892778	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	8413370	74892778	106022482	294	10886											
PDE8B	8622	broad.mit.edu	37	chr5	76700610	76700610	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtgaaatcgatatcatctCgaggcagtgatggtaagatg	13	10	12	6	3	2	3	1	2	1	1	4	5	2	3	0	2	0	2	0	2	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:76700610C>T	ENST00000264917.5	+	12	1321	c.1276C>T	c.(1276-1278)Cga>Tga	p.R426*	PDE8B_ENST00000346042.3_Nonsense_Mutation_p.R329*|PDE8B_ENST00000342343.4_Nonsense_Mutation_p.R406*|PDE8B_ENST00000333194.4_Nonsense_Mutation_p.R426*|PDE8B_ENST00000340978.3_Nonsense_Mutation_p.R379*	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	426					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GATATCATCTCGAGGCAGTGA	0.353													18	76					0	0	0	0	T	76700610	C	T	76700610	4	4	58	1	0	0	0	0	0	1	0	0	11725	876	31	1	1322	1	PDE8B	5	76700610	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1807832	76700610	104214650	295	10887											
CMYA5	202333	broad.mit.edu	37	chr5	79034791	79034791	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcactagaagaacctaaaatCctggtcccacctgagccaag	14	7	7	13	0	1	3	1	1	0	2	3	3	3	3	5	1	2	0	5	1	6	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:79034791C>T	ENST00000446378.2	+	2	10234	c.10203C>T	c.(10201-10203)atC>atT	p.I3401I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3401						perinuclear region of cytoplasm		p.I3401I(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACCTAAAATCCTGGTCCCAC	0.453													30	101					0	0	0	0	T	79034791	C	T	79034791	2	4	58	1	0	0	0	0	0	0	0	1	3620	845	30	2		2	CMYA5	5	79034791	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2334181	79034791	101880469	296	10888											
THBS4	7060	broad.mit.edu	37	chr5	79366996	79366996	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgatgatgacatggaTggagatggtagatttatctt	10	14	13	4	0	1	5	0	3	1	2	1	7	1	6	1	3	0	1	1	3	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:79366996T>A	ENST00000350881.2	+	13	1903	c.1713T>A	c.(1711-1713)gaT>gaA	p.D571E	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.D480E|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	571					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ATGACATGGATGGAGATGGTA	0.423													62	223					0	0	0	0	A	79366996	T	A	79366996	3	1	58	1	0	0	0	0	1	0	0	0	15950	1461	51	5	1763	5	THBS4	5	79366996	Missense_Mutation	SNP	T	TCGA-CN-4723-01A-01D-1434-08	332205	79366996	101548264	297	10889											
RASA1	5921	broad.mit.edu	37	chr5	86564372	86564372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctatcccgcagtgtgtcGggtgaagatacccgcggccc	6	8	13	14	4	0	2	0	1	0	1	2	2	1	2	4	2	2	1	4	2	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:86564372G>T	ENST00000274376.6	+	1	668	c.104G>T	c.(103-105)cGg>cTg	p.R35L		NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	35					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GCAGTGTGTCGGGTGAAGATA	0.721													4	2					5.9392e-07	6.11812e-07	1	0	T	86564372	G	T	86564372	3	4	58	1	0	0	0	0	1	0	0	0	13142	1116	39	3	106	3	RASA1	5	86564372	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	7197376	86564372	94350888	298	10890											
GPR98	84059	broad.mit.edu	37	chr5	89981767	89981767	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacaggaggagcatttgcaGatgtctctgtgaagtttaaa	13	11	12	5	0	1	2	0	1	1	1	2	5	1	4	0	2	3	3	0	2	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:89981767G>C	ENST00000405460.2	+	29	6541	c.6445G>C	c.(6445-6447)Gat>Cat	p.D2149H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2149					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCATTTGCAGATGTCTCTGT	0.428													6	29					0	0	0	0	C	89981767	G	C	89981767	3	2	58	1	0	0	0	0	1	0	0	0	6771	942	33	2	6559	2	GPR98	5	89981767	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3417395	89981767	90933493	299	10891											
FAM81B	153643	broad.mit.edu	37	chr5	94784011	94784011	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggaagaaaaactgctgcaGctttcaagcaaagtagagaa	18	7	10	6	0	1	2	1	0	0	2	1	4	1	3	0	1	5	5	0	1	7	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:94784011G>C	ENST00000283357.5	+	9	1114	c.1068G>C	c.(1066-1068)caG>caC	p.Q356H		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	356										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AACTGCTGCAGCTTTCAAGCA	0.313													9	52					0	0	0	0	C	94784011	G	C	94784011	3	2	58	1	0	0	0	0	1	0	0	0	5675	962	34	4	1102	4	FAM81B	5	94784011	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4802244	94784011	86131249	300	10892											
ERAP2	64167	broad.mit.edu	37	chr5	96219594	96219594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacttttcaatcaagatacGaagagagagcaggcatattg	16	9	9	7	1	2	3	2	0	0	3	2	5	2	3	0	1	3	2	0	1	6	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:96219594G>A	ENST00000437043.3	+	3	1385	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	ERAP2_ENST00000379904.4_Missense_Mutation_p.R225Q|ERAP2_ENST00000510309.1_Missense_Mutation_p.R225Q|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	225					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ATCAAGATACGAAGAGAGAGC	0.418													20	84					0	0	0	0	A	96219594	G	A	96219594	3	1	58	1	0	0	0	0	1	0	0	0	5242	1058	37	1	680	1	ERAP2	5	96219594	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1435583	96219594	84695666	301	10893											
MAN2A1	4124	broad.mit.edu	37	chr5	109181672	109181672	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatcgtttgacactgctctCtgctcagtcattaggggttt	7	15	9	10	1	3	1	2	1	1	0	5	1	3	1	0	2	2	4	0	2	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:109181672C>G	ENST00000261483.4	+	18	3859	c.2807C>G	c.(2806-2808)tCt>tGt	p.S936C		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	936					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACACTGCTCTCTGCTCAGTCA	0.413													8	299					0	0	0	0	G	109181672	C	G	109181672	3	3	58	1	0	0	0	0	1	0	0	0	9283	913	32	2	2877	2	MAN2A1	5	109181672	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	12962078	109181672	71733588	302	10894											
STARD4	134429	broad.mit.edu	37	chr5	110836745	110836745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccacagtataggagaaatCaacaaattctcttggggaaa	16	8	9	8	0	2	1	1	0	1	1	3	3	2	2	1	3	1	1	1	3	6	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:110836745C>G	ENST00000296632.3	-	5	486	c.352G>C	c.(352-354)Gat>Cat	p.D118H	STARD4_ENST00000512160.1_Intron|STARD4_ENST00000509887.1_3'UTR|STARD4_ENST00000511569.1_5'UTR|STARD4_ENST00000502322.1_Missense_Mutation_p.D118H	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	118	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TAGGAGAAATCAACAAATTCT	0.338													56	224					0	0	0	0	G	110836745	C	G	110836745	3	3	58	1	0	0	0	0	1	0	0	0	15349	826	29	2	273	2	STARD4	5	110836745	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1655073	110836745	70078515	303	10895											
APC	324	broad.mit.edu	37	chr5	112177508	112177508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatatgggtggcatattaGgtgaagatctgacacttgat	13	12	12	4	0	1	4	0	3	1	1	1	5	1	4	0	3	0	1	0	3	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:112177508G>A	ENST00000457016.1	+	16	6597	c.6217G>A	c.(6217-6219)Ggt>Agt	p.G2073S	APC_ENST00000257430.4_Missense_Mutation_p.G2073S|APC_ENST00000508376.2_Missense_Mutation_p.G2073S|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2073	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGGCATATTAGGTGAAGATCT	0.383		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			49	114					0	0	0	0	A	112177508	G	A	112177508	3	1	58	1	0	0	0	0	1	0	0	0	764	1000	35	4	6275	4	APC	5	112177508	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1340763	112177508	68737752	304	10896											
APC	324	broad.mit.edu	37	chr5	112179224	112179224	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaatcaaagactctaattTatcaaatggcacctgctgtt	13	13	6	9	0	3	2	2	1	1	1	3	2	3	2	1	1	1	3	1	1	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:112179224T>C	ENST00000457016.1	+	16	8313	c.7933T>C	c.(7933-7935)Tat>Cat	p.Y2645H	APC_ENST00000257430.4_Missense_Mutation_p.Y2645H|APC_ENST00000508376.2_Missense_Mutation_p.Y2645H|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2645	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GACTCTAATTTATCAAATGGC	0.388		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			92	165					0	0	0	0	C	112179224	T	C	112179224	3	2	58	1	0	0	0	0	1	0	0	0	764	1754	61	5	7991	5	APC	5	112179224	Missense_Mutation	SNP	T	TCGA-CN-4723-01A-01D-1434-08	1716	112179224	68736036	305	10897											
TMED7	51014	broad.mit.edu	37	chr5	114961327	114961327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggtgcacttggtgccctGagcgatgtcctcgtagaagc	7	9	14	11	2	0	2	0	1	0	1	2	3	1	2	2	2	4	2	2	2	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:114961327G>C	ENST00000456936.3	-	1	543	c.163C>G	c.(163-165)Cag>Gag	p.Q55E	TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.Q55E|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.Q55E|TICAM2_ENST00000408996.4_Missense_Mutation_p.Q55E|TMED7_ENST00000503010.1_Intron	NM_181836.5	NP_861974.1			transmembrane emp24 protein transport domain containing 7											breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		TTGGTGCCCTGAGCGATGTCC	0.627													11	31					0	0	0	0	C	114961327	G	C	114961327	3	2	58	1	0	0	0	0	1	0	0	0	16103	1299	45	2	523	2	TMED7	5	114961327	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2782103	114961327	65953933	306	10898											
DTWD2	285605	broad.mit.edu	37	chr5	118176651	118176651	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaacaattccattttcctGagtttgcgtttgttctttgg	7	20	7	7	1	1	1	0	1	1	0	3	1	3	1	2	1	2	3	2	1	2	8	rs138333410		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:118176651G>C	ENST00000304058.4	-	6	730	c.660C>G	c.(658-660)ctC>ctG	p.L220L	DTWD2_ENST00000515439.3_Silent_p.L190L|DTWD2_ENST00000510708.1_Silent_p.L286L			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	286										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CCATTTTCCTGAGTTTGCGTT	0.348													8	65					0	0	0	0	C	118176651	G	C	118176651	2	2	58	1	0	0	0	0	0	0	0	1	4828	1277	45	2		2	DTWD2	5	118176651	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3215324	118176651	62738609	307	10899											
PRR16	51334	broad.mit.edu	37	chr5	120021840	120021840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgctatcctcacggtcctGagaaagccaaaccctccacc	10	8	6	17	1	2	1	1	1	1	1	5	2	5	1	6	1	3	1	6	1	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:120021840G>A	ENST00000379551.2	+	3	639	c.282G>A	c.(280-282)ctG>ctA	p.L94L	PRR16_ENST00000505123.1_Silent_p.L47L|PRR16_ENST00000446965.1_Silent_p.L47L|PRR16_ENST00000407149.2_Silent_p.L117L	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	117										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCACGGTCCTGAGAAAGCCAA	0.522													45	91					0	0	0	0	A	120021840	G	A	120021840	2	1	58	1	0	0	0	0	0	0	0	1	12669	1277	45	2		2	PRR16	5	120021840	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1845189	120021840	60893420	308	10900											
ZNF608	57507	broad.mit.edu	37	chr5	123983566	123983566	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttggagtcctctagtttCcccagcttggcatccatttt	5	15	7	14	0	1	0	0	0	1	0	4	1	4	1	5	2	1	3	5	2	1	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:123983566C>A	ENST00000306315.5	-	4	2946	c.2511G>T	c.(2509-2511)ggG>ggT	p.G837G	ZNF608_ENST00000504926.1_Silent_p.G410G	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	837						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCTCTAGTTTCCCCAGCTTGG	0.463													91	263					8.03987e-26	8.60615e-26	1	0	A	123983566	C	A	123983566	2	1	58	1	0	0	0	0	0	0	0	1	18129	842	30	2		2	ZNF608	5	123983566	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3961726	123983566	56931694	309	10901											
ALDH7A1	501	broad.mit.edu	37	chr5	125928409	125928409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttacagtttcttcatagtCtgccacactggcctaaatta	10	15	5	11	0	3	0	1	0	2	0	3	0	3	0	2	1	2	1	2	1	5	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:125928409C>G	ENST00000409134.3	-	3	478	c.259G>C	c.(259-261)Gac>Cac	p.D87H	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.D114H|ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.D87H	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	87					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TCTTCATAGTCTGCCACACTG	0.368													10	41					0	0	0	0	G	125928409	C	G	125928409	3	3	58	1	0	0	0	0	1	0	0	0	504	913	32	2	1424	2	ALDH7A1	5	125928409	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1944843	125928409	54986851	310	10902											
PHAX	51808	broad.mit.edu	37	chr5	125939416	125939416	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgtctttggaaacgcaaacGacagaaatgttttaaccctc	13	11	7	10	2	1	1	0	0	1	1	2	3	1	2	1	1	3	2	1	1	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:125939416G>C	ENST00000297540.4	+	2	946	c.251G>C	c.(250-252)cGa>cCa	p.R84P	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	84	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						AAACGCAAACGACAGAAATGT	0.418													18	116					0	0	0	0	C	125939416	G	C	125939416	3	2	58	1	0	0	0	0	1	0	0	0	11885	1058	37	3	257	3	PHAX	5	125939416	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	11007	125939416	54975844	311	10903											
CATSPER3	347732	broad.mit.edu	37	chr5	134344589	134344589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgggaatttgctttgagccGggcattcaccatcatcttca	8	13	9	11	2	4	1	3	1	1	0	5	2	4	2	2	2	2	2	2	2	1	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:134344589G>T	ENST00000282611.6	+	5	820	c.734G>T	c.(733-735)cGg>cTg	p.R245L		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	245					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTTTGAGCCGGGCATTCACC	0.532													32	92					3.80469e-20	4.05856e-20	1	0	T	134344589	G	T	134344589	3	4	58	1	0	0	0	0	1	0	0	0	2714	1116	39	3	752	3	CATSPER3	5	134344589	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	8405173	134344589	46570671	312	10904											
FAM13B	51306	broad.mit.edu	37	chr5	137275949	137275949	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaatcttgtttgcttataaGaacttcaagaagcctaagct	14	13	7	7	0	2	3	1	0	1	3	2	3	2	3	1	0	4	3	1	0	7	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:137275949G>C	ENST00000033079.3	-	23	3164	c.2713C>G	c.(2713-2715)Ctt>Gtt	p.L905V	FAM13B_ENST00000425075.2_Missense_Mutation_p.L781V|PKD2L2_ENST00000508883.1_Intron|PKD2L2_ENST00000290431.5_3'UTR|FAM13B_ENST00000420893.2_Missense_Mutation_p.L877V|PKD2L2_ENST00000502810.1_3'UTR|PKD2L2_ENST00000508638.1_3'UTR	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	905					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TTGCTTATAAGAACTTCAAGA	0.373													28	67					0	0	0	0	C	137275949	G	C	137275949	3	2	58	1	0	0	0	0	1	0	0	0	5494	942	33	2	38	2	FAM13B	5	137275949	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2931360	137275949	43639311	313	10905											
NDUFA2	4695	broad.mit.edu	37	chr5	140026901	140026901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggattaggatgggtaggtCgggattcgccttcttcagct	6	12	15	8	3	2	0	1	0	1	0	4	3	2	3	1	5	1	2	1	5	2	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140026901C>T	ENST00000252102.4	-	2	349	c.148G>A	c.(148-150)Gac>Aac	p.D50N	NDUFA2_ENST00000512088.1_Missense_Mutation_p.D50N	NM_001185012.1|NM_002488.4	NP_001171941.1|NP_002479.1	O43678	NDUA2_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa	50			D -> N (in a breast cancer sample; somatic mutation).		mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.D50N(1)		breast(1)|endometrium(3)|large_intestine(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		NADH(DB00157)	ATGGGTAGGTCGGGATTCGCC	0.662													6	81					0	0	0	0	T	140026901	C	T	140026901	3	4	58	1	0	0	0	0	1	0	0	0	10334	884	31	1	186	1	NDUFA2	5	140026901	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2750952	140026901	40888359	314	10906											
PCDHAC2	56134	broad.mit.edu	37	chr5	140348753	140348753	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctgtctgacagcaggctCagggagtgacactttcatgt	8	10	13	10	0	3	2	2	2	1	0	3	3	3	3	1	3	1	2	1	3	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140348753C>G	ENST00000289269.5	+	1	2934	c.2402C>G	c.(2401-2403)tCa>tGa	p.S801*	PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		801					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)			ACAGCAGGCTCAGGGAGTGAC	0.552													16	109					0	0	0	0	G	140348753	C	G	140348753	4	3	58	1	0	0	0	0	0	1	0	0	11604	838	29	2	2404	2	PCDHAC2	5	140348753	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	321852	140348753	40566507	315	10907											
PCDHB2	56133	broad.mit.edu	37	chr5	140474836	140474836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcactcctggaactactttCttaatagaacgtgcccagga	12	11	7	11	1	2	1	1	0	1	1	3	3	3	3	2	2	4	0	2	2	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140474836C>G	ENST00000194155.4	+	1	610	c.462C>G	c.(460-462)ttC>ttG	p.F154L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		154	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACTACTTTCTTAATAGAAC	0.393													12	58					0	0	0	0	G	140474836	C	G	140474836	3	3	58	1	0	0	0	0	1	0	0	0	11613	912	32	2	464	2	PCDHB2	5	140474836	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	126083	140474836	40440424	316	10908											
PCDHB3	56132	broad.mit.edu	37	chr5	140481673	140481673	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgccacagacagagactcAggcaccaacgcccaggtaac	14	2	10	15	2	1	2	1	0	0	2	1	3	1	2	3	2	3	2	3	2	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140481673A>G	ENST00000231130.2	+	1	1440	c.1440A>G	c.(1438-1440)tcA>tcG	p.S480S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		480	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGACTCAGGCACCAACG	0.647													44	128					0	0	0	0	G	140481673	A	G	140481673	2	3	58	1	0	0	0	0	0	0	0	1	11614	175	7	5		5	PCDHB3	5	140481673	Silent	SNP	A	TCGA-CN-4723-01A-01D-1434-08	6837	140481673	40433587	317	10909											
PCDHB14	56122	broad.mit.edu	37	chr5	140604130	140604130	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagaagtgaccatatcgtcGattacaaagagaattccaga	16	8	8	9	2	0	4	0	1	0	3	3	6	1	4	3	0	1	0	3	0	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140604130G>A	ENST00000239449.4	+	1	1053	c.1053G>A	c.(1051-1053)tcG>tcA	p.S351S	PCDHB14_ENST00000515856.2_Silent_p.S198S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		351					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S351S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATATCGTCGATTACAAAGA	0.428													37	82					0	0	0	0	A	140604130	G	A	140604130	2	1	58	1	0	0	0	0	0	0	0	1	11610	1045	37	1		1	PCDHB14	5	140604130	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	122457	140604130	40311130	318	10910											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720878	140720878	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactatgcggacacgctcatCagccaggagagctgtgagaa	13	6	12	10	2	2	2	2	1	0	2	2	5	2	3	1	2	4	2	1	2	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140720878C>T	ENST00000394576.2	+	1	2340	c.2340C>T	c.(2338-2340)atC>atT	p.I780I	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGCTCATCAGCCAGGAGA	0.498													47	133					0	0	0	0	T	140720878	C	T	140720878	2	4	58	1	0	0	0	0	0	0	0	1	11625	816	29	2		2	PCDHGA2	5	140720878	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	116748	140720878	40194382	319	10911											
PCDHGB1	56104	broad.mit.edu	37	chr5	140732048	140732048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggttcctcccaaccacagcGaggggactttgccctattcc	7	9	10	15	1	0	0	0	0	0	0	3	2	3	1	5	3	3	1	5	3	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140732048G>A	ENST00000523390.1	+	1	2221	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCACAGCGAGGGGACTTT	0.562													27	129					0	0	0	0	A	140732048	G	A	140732048	3	1	58	1	0	0	0	0	1	0	0	0	11633	1059	37	1	2223	1	PCDHGB1	5	140732048	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	11170	140732048	40183212	320	10912											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755614	140755614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccacggccagccccctctctCcgccactgtcacgctcaccg	5	6	7	23	4	3	0	2	0	1	0	5	0	4	0	7	1	1	1	7	1	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140755614C>T	ENST00000517434.1	+	1	1964	c.1964C>T	c.(1963-1965)tCc>tTc	p.S655F	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCCTCTCTCCGCCACTGTC	0.706													8	40					0	0	0	0	T	140755614	C	T	140755614	3	4	58	1	0	0	0	0	1	0	0	0	11629	855	30	2	1966	2	PCDHGA6	5	140755614	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	23566	140755614	40159646	321	10913											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768392	140768392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaagaagtcaaagaatattCcatagttttggaagcaaggg	16	10	11	4	0	1	3	1	1	0	2	2	4	2	4	1	2	1	2	1	2	8	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140768392C>A	ENST00000519479.1	+	1	941	c.941C>A	c.(940-942)tCc>tAc	p.S314Y	PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGAATATTCCATAGTTTTG	0.408													38	35					5.04308e-16	5.33795e-16	1	0	A	140768392	C	A	140768392	3	1	58	1	0	0	0	0	1	0	0	0	11636	855	30	2	943	2	PCDHGB4	5	140768392	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	12778	140768392	40146868	322	10914											
YIPF5	81555	broad.mit.edu	37	chr5	143544999	143544999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgcaacaaatcttaccttCtaataaaggtggctcatcct	12	13	6	10	0	3	0	1	0	2	0	4	0	4	0	2	2	3	3	2	2	6	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:143544999C>T	ENST00000274496.5	-	3	414	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	YIPF5_ENST00000448443.2_Missense_Mutation_p.E94K|YIPF5_ENST00000513112.1_Missense_Mutation_p.E40K	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	94	Interaction with Sec23.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATCTTACCTTCTAATAAAGGT	0.378													18	105					0	0	0	0	T	143544999	C	T	143544999	3	4	58	1	0	0	0	0	1	0	0	0	17577	922	32	2	509	2	YIPF5	5	143544999	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2776607	143544999	37370261	323	10915											
TNIP1	10318	broad.mit.edu	37	chr5	150415257	150415257	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccctctggaagtcctcctcGaagatcttcacctggtgtgg	6	12	10	13	1	3	1	1	0	2	1	7	3	6	2	4	3	0	0	4	3	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:150415257G>A	ENST00000389378.2	-	14	1995	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	TNIP1_ENST00000315050.7_Silent_p.F469F|TNIP1_ENST00000521591.1_Silent_p.F469F|TNIP1_ENST00000523200.1_Silent_p.F469F|TNIP1_ENST00000520931.1_Silent_p.F416F|TNIP1_ENST00000523338.1_Silent_p.F469F|TNIP1_ENST00000518977.1_Silent_p.F469F|TNIP1_ENST00000524280.1_Silent_p.F469F|TNIP1_ENST00000522226.1_Silent_p.F469F|TNIP1_ENST00000521423.1_Intron	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	469					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCCTCCTCGAAGATCTTCA	0.597													4	132					0	0	0	0	A	150415257	G	A	150415257	2	1	58	1	0	0	0	0	0	0	0	1	16408	1049	37	1		1	TNIP1	5	150415257	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	6870258	150415257	30500003	324	10916											
SLC36A3	285641	broad.mit.edu	37	chr5	150664219	150664219	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggctgtaccaaagaacagCaagaaggtcttccagtttgc	13	9	10	9	0	1	2	0	0	1	2	2	2	2	2	2	2	4	4	2	2	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:150664219C>T	ENST00000335230.3	-	7	1173	c.762G>A	c.(760-762)ttG>ttA	p.L254L	SLC36A3_ENST00000377713.3_Silent_p.L295L	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	254						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAAGAACAGCAAGAAGGTCT	0.493													30	109					0	0	0	0	T	150664219	C	T	150664219	2	4	58	1	0	0	0	0	0	0	0	1	14683	709	25	4		4	SLC36A3	5	150664219	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	248962	150664219	30251041	325	10917											
GALNT10	55568	broad.mit.edu	37	chr5	153755896	153755896	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccccagtgtgaggattcttCgaaccaagaaacgggaaggg	12	7	13	9	2	1	2	0	1	1	1	3	5	2	4	3	3	2	0	3	3	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:153755896C>T	ENST00000297107.6	+	5	765	c.628C>T	c.(628-630)Cga>Tga	p.R210*	GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Nonsense_Mutation_p.R210*	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	210	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R210*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAGGATTCTTCGAACCAAGAA	0.502													60	179					0	0	0	0	T	153755896	C	T	153755896	4	4	58	1	0	0	0	0	0	1	0	0	6257	876	31	1	646	1	GALNT10	5	153755896	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3091677	153755896	27159364	326	10918											
SAP30L	79685	broad.mit.edu	37	chr5	153835558	153835558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaagagtagactggaccaGaaatcggagggtggcaagca	16	4	14	7	1	0	3	0	0	0	3	1	5	0	5	1	4	2	3	1	4	5	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:153835558G>C	ENST00000297109.6	+	4	1170	c.522G>C	c.(520-522)caG>caC	p.Q174H	SAP30L_ENST00000440364.2_Missense_Mutation_p.Q133H|SAP30L_ENST00000426761.2_Missense_Mutation_p.Q128H	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GACTGGACCAGAAATCGGAGG	0.438													37	163					0	0	0	0	C	153835558	G	C	153835558	3	2	58	1	0	0	0	0	1	0	0	0	13921	933	33	2	536	2	SAP30L	5	153835558	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	79662	153835558	27079702	327	10919											
TIMD4	91937	broad.mit.edu	37	chr5	156381666	156381666	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcactggtctttcccccAgcacatgctgttgctgttgt	4	13	12	12	0	1	0	0	0	1	0	2	0	2	0	2	3	3	6	2	3	0	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:156381666A>T	ENST00000274532.2	-	2	216	c.160T>A	c.(160-162)Tgg>Agg	p.W54R	TIMD4_ENST00000407087.3_Missense_Mutation_p.W54R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	54	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTTCCCCCAGCACATGCTG	0.527													35	85					0	0	0	0	T	156381666	A	T	156381666	3	4	58	1	0	0	0	0	1	0	0	0	15997	188	7	5	1008	5	TIMD4	5	156381666	Missense_Mutation	SNP	A	TCGA-CN-4723-01A-01D-1434-08	2546108	156381666	24533594	328	10920											
SOX30	11063	broad.mit.edu	37	chr5	157078561	157078561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcccctcggaagtagcCgagggccggcccggggcctt	4	6	15	16	5	0	0	0	0	0	0	3	2	1	1	6	5	1	1	6	5	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:157078561C>G	ENST00000265007.6	-	1	867	c.526G>C	c.(526-528)Ggc>Cgc	p.G176R	SOX30_ENST00000311371.5_Missense_Mutation_p.G176R|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	176					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGGAAGTAGCCGAGGGCCGGC	0.677													55	93					0	0	0	0	G	157078561	C	G	157078561	3	3	58	1	0	0	0	0	1	0	0	0	15040	652	23	3	1755	3	SOX30	5	157078561	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	696895	157078561	23836699	329	10921											
WWC1	23286	broad.mit.edu	37	chr5	167812224	167812224	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtctgttccagaaaccactCagattgaggatcctcgagta	11	10	10	10	1	2	3	1	1	1	2	5	5	4	4	3	2	1	2	3	2	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:167812224C>G	ENST00000265293.4	+	3	740	c.238C>G	c.(238-240)Cag>Gag	p.Q80E	WWC1_ENST00000521089.1_Missense_Mutation_p.Q80E	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	80	WW 2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGAAACCACTCAGATTGAGGA	0.507													19	40					0	0	0	0	G	167812224	C	G	167812224	3	3	58	1	0	0	0	0	1	0	0	0	17507	827	29	2	248	2	WWC1	5	167812224	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	10733663	167812224	13103036	330	10922											
KCNMB1	3779	broad.mit.edu	37	chr5	169810677	169810677	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccccatccctccagttCagtacctgctggttctggtc	4	13	9	15	0	2	0	1	0	1	0	6	0	5	0	5	2	2	4	5	2	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:169810677C>A	ENST00000521859.1	-	3	711	c.312G>T	c.(310-312)ctG>ctT	p.L104L	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000274629.4_Intron			Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	0					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CCCTCCAGTTCAGTACCTGCT	0.587													25	55					3.08376e-08	3.19001e-08	1	0	A	169810677	C	A	169810677	2	1	58	1	0	0	0	0	0	0	0	1	8127	841	29	2		2	KCNMB1	5	169810677	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1998453	169810677	11104583	331	10923											
ADAMTS2	9509	broad.mit.edu	37	chr5	178771042	178771042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggaccggggcggccctgCgggctcgtacccctgctctg	2	7	15	17	5	1	0	0	0	1	0	3	1	2	1	5	5	3	3	5	5	1	1	rs150047440		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:178771042C>T	ENST00000251582.7	-	2	361	c.260G>A	c.(259-261)cGc>cAc	p.R87H	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.R87H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	87					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGCGGCCCTGCGGGCTCGTAC	0.697													18	39					0	0	0	0	T	178771042	C	T	178771042	3	4	58	1	0	0	0	0	1	0	0	0	265	768	27	1	3534	1	ADAMTS2	5	178771042	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	8960365	178771042	2144218	332	10924											
MAPK9	5601	broad.mit.edu	37	chr5	179696288	179696288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacataacttacatttttatGattgacacattttaagagga	15	16	5	5	0	0	3	0	2	0	1	0	4	0	4	0	1	3	0	0	1	5	9			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:179696288G>A	ENST00000452135.2	-	3	542	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	MAPK9_ENST00000539014.1_Missense_Mutation_p.H82Y|MAPK9_ENST00000393360.3_Missense_Mutation_p.H82Y|MAPK9_ENST00000455781.1_Missense_Mutation_p.H82Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.H82Y|MAPK9_ENST00000347470.4_Missense_Mutation_p.H82Y|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.H82Y			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	82	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACATTTTTATGATTGACACAT	0.363													6	124					0	0	0	0	A	179696288	G	A	179696288	3	1	58	1	0	0	0	0	1	0	0	0	9356	1290	45	2	1192	2	MAPK9	5	179696288	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	925246	179696288	1218972	333	10925											
BTNL8	79908	broad.mit.edu	37	chr5	180338384	180338384	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcacgggatatgttgataGagacatccagctactctgtc	11	11	9	10	1	2	2	1	1	1	1	4	4	3	3	1	1	2	2	1	1	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:180338384G>C	ENST00000231229.4	+	3	677	c.443G>C	c.(442-444)aGa>aCa	p.R148T	BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.R32T|BTNL8_ENST00000508408.1_Missense_Mutation_p.R148T|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000340184.4_Missense_Mutation_p.R148T|BTNL8_ENST00000400707.3_Missense_Mutation_p.R23T	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	148	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATGTTGATAGAGACATCCAG	0.537													144	412					0	0	0	0	C	180338384	G	C	180338384	3	2	58	1	0	0	0	0	1	0	0	0	1576	942	33	2	479	2	BTNL8	5	180338384	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	642096	180338384	576876	334	10926											
BTNL8	79908	broad.mit.edu	37	chr5	180377003	180377003	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccccaggaggtgcctcactCtgagaagagatttacaagga	12	8	11	10	0	2	2	1	1	1	2	3	6	3	4	3	3	2	0	3	3	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:180377003C>G	ENST00000340184.4	+	8	1168	c.962C>G	c.(961-963)tCt>tGt	p.S321C	BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.S137C|BTNL8_ENST00000505126.1_Missense_Mutation_p.S114C|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.S205C|BTNL8_ENST00000400707.3_Missense_Mutation_p.S196C	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	321	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGCCTCACTCTGAGAAGAGA	0.517													35	92					0	0	0	0	G	180377003	C	G	180377003	3	3	58	1	0	0	0	0	1	0	0	0	1576	913	32	2	1148	2	BTNL8	5	180377003	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	38619	180377003	538257	335	10927											
JARID2	3720	broad.mit.edu	37	chr6	15496939	15496939	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagtgccggagcgcagtctgGagaggaatcggccgaagcgg	10	4	18	9	5	1	1	0	0	1	1	2	5	1	3	2	5	3	1	2	5	3	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:15496939G>C	ENST00000341776.2	+	7	1727	c.1483G>C	c.(1483-1485)Gag>Cag	p.E495Q	JARID2_ENST00000541660.1_Missense_Mutation_p.E457Q|JARID2_ENST00000397311.3_Missense_Mutation_p.E323Q	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	495					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCGCAGTCTGGAGAGGAATCG	0.662													26	26					0	0	0	0	C	15496939	G	C	15496939	3	2	58	1	0	0	0	0	1	0	0	0	7998	1175	41	2	1509	2	JARID2	6	15496939	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08		15496939	155618128	336	10928											
HIST1H2AC	8334	broad.mit.edu	37	chr6	26124521	26124521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcgaaatcccgctcttctCgcgctggtctccagttcccg	6	10	9	16	5	3	0	0	0	3	0	7	1	5	0	3	1	1	3	3	1	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:26124521C>T	ENST00000602637.1	+	1	91	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.R21C			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	21					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CCGCTCTTCTCGCGCTGGTCT	0.612													29	20					0	0	0	0	T	26124521	C	T	26124521	3	4	58	1	0	0	0	0	1	0	0	0	7180	884	31	1	63	1	HIST1H2AC	6	26124521	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	10627582	26124521	144990546	337	10929											
BTN2A2	10385	broad.mit.edu	37	chr6	26385375	26385375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggttccggtctcagttctCccccgcagtgtttgtgtata	4	15	11	11	2	2	0	1	0	2	0	5	0	3	0	3	2	0	5	3	2	2	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:26385375C>T	ENST00000356709.4	+	3	338	c.227C>T	c.(226-228)tCc>tTc	p.S76F	BTN2A2_ENST00000416795.2_Missense_Mutation_p.S76F|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.S76F|BTN2A2_ENST00000432533.2_Missense_Mutation_p.S76F	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	76	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TCTCAGTTCTCCCCCGCAGTG	0.527													31	40					0	0	0	0	T	26385375	C	T	26385375	3	4	58	1	0	0	0	0	1	0	0	0	1570	855	30	2	233	2	BTN2A2	6	26385375	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	260854	26385375	144729692	338	10930											
ZSCAN16	80345	broad.mit.edu	37	chr6	28097416	28097416	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaatgtgggaaaagtttCagtcatagctcagaccttag	13	11	11	6	0	3	2	3	1	0	1	3	4	3	3	1	1	1	2	1	1	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:28097416C>T	ENST00000340487.4	+	4	884	c.735C>T	c.(733-735)ttC>ttT	p.F245F	RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	245					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGAAAAGTTTCAGTCATAGCT	0.418													44	52					0	0	0	0	T	28097416	C	T	28097416	2	4	58	1	0	0	0	0	0	0	0	1	18321	825	29	2		2	ZSCAN16	6	28097416	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1712041	28097416	143017651	339	10931											
SCAND3	114821	broad.mit.edu	37	chr6	28541483	28541483	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtgaaactagcatgaactCttttggttttcccttcttca	9	16	7	9	0	3	2	1	2	2	0	4	3	4	2	1	1	3	2	1	1	3	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:28541483C>G	ENST00000452236.2	-	4	2800	c.2183G>C	c.(2182-2184)aGa>aCa	p.R728T		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	728					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						agcatgaactcttttggtttt	0.323													28	30					0	0	0	0	G	28541483	C	G	28541483	3	3	58	1	0	0	0	0	1	0	0	0	13962	913	32	2	1798	2	SCAND3	6	28541483	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	444067	28541483	142573584	340	10932											
OR2J3	442186	broad.mit.edu	37	chr6	29080281	29080281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgaccctcatgatcaCaagctccatatttgttctca	10	13	6	12	0	3	3	3	3	1	0	5	3	4	3	2	0	2	3	2	0	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:29080281C>G	ENST00000377169.1	+	1	614	c.614C>G	c.(613-615)aCa>aGa	p.T205R		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTCATGATCACAAGCTCCATA	0.468													60	38					0	0	0	0	G	29080281	C	G	29080281	3	3	58	1	0	0	0	0	1	0	0	0	11075	478	17	4	616	4	OR2J3	6	29080281	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	538798	29080281	142034786	341	10933											
HLA-B	3106	broad.mit.edu	37	chr6	31324214	31324214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtacatgctctggagggtgtGagaccctggccccggccccg	5	7	15	14	2	1	1	0	1	1	1	1	3	1	2	5	4	2	2	5	4	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:31324214G>C	ENST00000412585.2	-	3	377	c.349C>G	c.(349-351)Cac>Gac	p.H117D		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TGGAGGGTGTGAGACCCTGGC	0.697									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				7	17					0	0	0	0	C	31324214	G	C	31324214	3	2	58	1	0	0	0	0	1	0	0	0	7246	1290	45	2	759	2	HLA-B	6	31324214	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2243933	31324214	139790853	342	10934											
HSPA1B	3304	broad.mit.edu	37	chr6	31797593	31797593	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcccgggcctggcggcttCggggctcagggtcccaaggg	3	6	19	13	3	1	0	1	0	0	0	4	0	3	0	3	8	0	2	3	8	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:31797593C>T	ENST00000375650.3	+	1	2082	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	HSPA1B_ENST00000545241.1_Silent_p.F531F	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	622					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|large_intestine(1)|prostate(1)	3						CTGGCGGCTTCGGGGCTCAGG	0.587													94	89					0	0	0	0	T	31797593	C	T	31797593	2	4	58	1	0	0	0	0	0	0	0	1	7461	883	31	1		1	HSPA1B	6	31797593	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	473379	31797593	139317474	343	10935											
SKIV2L	6499	broad.mit.edu	37	chr6	31933627	31933627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcgtacagtagtgtttgactCcatgcgcaaacacgatggct	10	11	10	10	3	0	1	0	1	0	0	2	2	1	1	1	1	3	5	1	1	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:31933627C>G	ENST00000375394.2	+	18	2152	c.2039C>G	c.(2038-2040)tCc>tGc	p.S680C	SKIV2L_ENST00000544581.1_Missense_Mutation_p.S487C	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	680	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GTGTTTGACTCCATGCGCAAA	0.587													58	50					0	0	0	0	G	31933627	C	G	31933627	3	3	58	1	0	0	0	0	1	0	0	0	14447	855	30	2	2109	2	SKIV2L	6	31933627	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	136034	31933627	139181440	344	10936											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975985	32975985	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaattcatgggtgaactggcCcgaggcgccgtaagactggt	10	8	14	9	3	1	2	1	1	0	1	1	3	1	2	2	4	1	1	2	4	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:32975985C>G	ENST00000229829.5	-	2	211	c.136G>C	c.(136-138)Ggc>Cgc	p.G46R	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.G16R	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	46	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GTGAACTGGCCCGAGGCGCCG	0.547													38	30					0	0	0	0	G	32975985	C	G	32975985	3	3	58	1	0	0	0	0	1	0	0	0	7250	623	22	4	632	4	HLA-DOA	6	32975985	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1042358	32975985	138139082	345	10937											
COL11A2	1302	broad.mit.edu	37	chr6	33135224	33135224	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgagcctgggagccccctCagaccatcagggccaggttt	8	7	12	14	0	2	2	2	1	0	1	2	3	2	3	5	3	2	1	5	3	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33135224C>G	ENST00000341947.2	-	56	4328	c.4101G>C	c.(4099-4101)ctG>ctC	p.L1367L	COL11A2_ENST00000357486.1_Silent_p.L1346L|COL11A2_ENST00000374712.1_Silent_p.L1286L|COL11A2_ENST00000374713.1_Silent_p.L1320L|COL11A2_ENST00000361917.1_Silent_p.L1260L|COL11A2_ENST00000374708.4_Silent_p.L1281L|COL11A2_ENST00000374714.1_Silent_p.L1341L|COL11A2_ENST00000395197.1_Silent_p.L1307L|COL11A2_ENST00000477772.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1367	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						GGAGCCCCCTCAGACCATCAG	0.667													30	32					0	0	0	0	G	33135224	C	G	33135224	2	3	58	1	0	0	0	0	0	0	0	1	3698	813	29	2		2	COL11A2	6	33135224	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	159239	33135224	137979843	346	10938											
B3GALT4	8705	broad.mit.edu	37	chr6	33245746	33245746	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgtatgtcaacgtccctGaactggtatcagagctggtc	9	12	11	9	1	2	2	2	1	0	1	4	2	3	2	1	2	3	3	1	2	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33245746G>C	ENST00000451237.1	+	1	830	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	184					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CAACGTCCCTGAACTGGTATC	0.587													93	82					0	0	0	0	C	33245746	G	C	33245746	3	2	58	1	0	0	0	0	1	0	0	0	1253	1291	45	2	552	2	B3GALT4	6	33245746	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	110522	33245746	137869321	347	10939											
ITPR3	3710	broad.mit.edu	37	chr6	33662853	33662853	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgcccagctcaacgagctCaaggagcaggtgtgcacccc	10	5	11	15	1	2	0	2	0	0	0	2	2	2	1	3	2	6	4	3	2	2	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33662853C>G	ENST00000374316.5	+	58	8998	c.7938C>G	c.(7936-7938)ctC>ctG	p.L2646L	ITPR3_ENST00000605930.1_Silent_p.L2646L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2646					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCAACGAGCTCAAGGAGCAGG	0.612													19	31					0	0	0	0	G	33662853	C	G	33662853	2	3	58	1	0	0	0	0	0	0	0	1	7975	813	29	2		2	ITPR3	6	33662853	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	417107	33662853	137452214	348	10940											
GRM4	2914	broad.mit.edu	37	chr6	33995958	33995958	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgggccggaagttgccCttctgcgtgaacttgttgga	5	12	14	10	3	1	1	0	1	1	0	1	3	1	3	3	3	3	3	3	3	2	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33995958C>T	ENST00000374181.3	-	9	2797	c.2628G>A	c.(2626-2628)aaG>aaA	p.K876K	GRM4_ENST00000535756.1_Silent_p.K743K|GRM4_ENST00000455714.2_Silent_p.K736K|GRM4_ENST00000374177.3_Silent_p.K760K|GRM4_ENST00000538487.1_Silent_p.K876K|GRM4_ENST00000545715.1_Silent_p.K568K|GRM4_ENST00000544773.1_Silent_p.K707K	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	876					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGAAGTTGCCCTTCTGCGTGA	0.637													31	27					0	0	0	0	T	33995958	C	T	33995958	2	4	58	1	0	0	0	0	0	0	0	1	6849	680	24	4		4	GRM4	6	33995958	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	333105	33995958	137119109	349	10941											
HMGA1	3159	broad.mit.edu	37	chr6	34208574	34208574	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgagtgagtcgagctCgaagtccagccagcccttgg	10	7	14	10	2	0	3	0	2	0	1	3	6	1	3	3	1	3	1	3	1	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:34208574C>A	ENST00000447654.1	+	2	506	c.17C>A	c.(16-18)tCg>tAg	p.S6*	HMGA1_ENST00000395004.3_Nonsense_Mutation_p.S6*|HMGA1_ENST00000401473.3_Nonsense_Mutation_p.S6*|HMGA1_ENST00000347617.6_Nonsense_Mutation_p.S6*|HMGA1_ENST00000478214.1_3'UTR|HMGA1_ENST00000311487.5_Nonsense_Mutation_p.S6*|HMGA1_ENST00000374116.3_Nonsense_Mutation_p.S6*	NM_145901.2|NM_145902.2	NP_665908.1|NP_665909.1	P17096	HMGA1_HUMAN	high mobility group AT-hook 1	6					DNA unwinding involved in replication|initiation of viral infection|interspecies interaction between organisms|loss of chromatin silencing|nucleosome disassembly|protein complex assembly|provirus integration	chromatin|cytosol|transcription factor complex	AT DNA binding|enzyme binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|protein binding|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity			lung(1)	1						GAGTCGAGCTCGAAGTCCAGC	0.592			T	?	"microfollicular thyroid adenoma,  various benign mesenchymal tumors,"								3	69					0.115264	0.11659	1	0	A	34208574	C	A	34208574	4	1	58	1	0	0	0	0	0	1	0	0	7273	893	31	3	19	3	HMGA1	6	34208574	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	212616	34208574	136906493	350	10942											
PACSIN1	29993	broad.mit.edu	37	chr6	34499414	34499414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggccagccctacgccaccGagtggtcagacgacgagagt	10	4	14	13	4	1	2	1	0	0	2	1	6	1	2	4	2	2	0	4	2	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:34499414G>A	ENST00000538621.1	+	9	1320	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	PACSIN1_ENST00000244458.2_Missense_Mutation_p.E359K|PACSIN1_ENST00000374043.2_Missense_Mutation_p.E317K	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	359					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTACGCCACCGAGTGGTCAGA	0.647													5	187					0	0	0	0	A	34499414	G	A	34499414	3	1	58	1	0	0	0	0	1	0	0	0	11445	1059	37	1	1105	1	PACSIN1	6	34499414	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	290840	34499414	136615653	351	10943											
KIF6	221458	broad.mit.edu	37	chr6	39554121	39554121	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtctcttaggacactggtCatcatggagtttctataagg	9	14	10	8	0	4	0	2	0	2	0	5	2	4	2	0	4	0	1	0	4	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:39554121C>G	ENST00000287152.7	-	8	1000	c.906G>C	c.(904-906)atG>atC	p.M302I	KIF6_ENST00000538893.1_Missense_Mutation_p.M302I|KIF6_ENST00000373215.3_Missense_Mutation_p.M302I|KIF6_ENST00000373213.4_Missense_Mutation_p.M141I|KIF6_ENST00000373216.3_Missense_Mutation_p.M302I	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	302					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGACACTGGTCATCATGGAGT	0.413													4	194					0	0	0	0	G	39554121	C	G	39554121	3	3	58	1	0	0	0	0	1	0	0	0	8359	826	29	2	1602	2	KIF6	6	39554121	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5054707	39554121	131560946	352	10944											
USP49	25862	broad.mit.edu	37	chr6	41767599	41767599	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtgcagccggagaacctGaggtagtctgtagatcatta	12	9	13	7	1	2	3	1	1	1	2	2	4	2	3	2	3	3	3	2	3	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:41767599G>A	ENST00000394253.3	-	5	1968	c.1639C>T	c.(1639-1641)Cag>Tag	p.Q547*	USP49_ENST00000373010.1_Nonsense_Mutation_p.Q547*|USP49_ENST00000373006.1_Nonsense_Mutation_p.Q547*|USP49_ENST00000373009.3_Nonsense_Mutation_p.Q547*|USP49_ENST00000297229.2_Nonsense_Mutation_p.Q547*			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	547					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGGAGAACCTGAGGTAGTCTG	0.488													6	425					0	0	0	0	A	41767599	G	A	41767599	4	1	58	1	0	0	0	0	0	1	0	0	17176	1299	45	2	291	2	USP49	6	41767599	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2213478	41767599	129347468	353	10945											
UBR2	23304	broad.mit.edu	37	chr6	42626426	42626426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagaggaagagaaaagcaGagattgccagactgcgcaga	16	4	14	7	1	0	5	0	1	0	5	0	9	0	6	1	1	3	2	1	1	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:42626426G>C	ENST00000372901.1	+	29	3364	c.3106G>C	c.(3106-3108)Gag>Cag	p.E1036Q	UBR2_ENST00000372883.3_Missense_Mutation_p.Q543H|UBR2_ENST00000372899.1_Missense_Mutation_p.E1036Q			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1036					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGAAAAGCAGAGATTGCCAG	0.388													37	83					0	0	0	0	C	42626426	G	C	42626426	3	2	58	1	0	0	0	0	1	0	0	0	16998	943	33	2	3366	2	UBR2	6	42626426	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	858827	42626426	128488641	354	10946											
UBR2	23304	broad.mit.edu	37	chr6	42626464	42626464	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagaaaagatcatggctcaGatgtctgaaatgcagcggca	15	7	12	7	1	3	4	2	1	1	3	3	5	3	4	0	2	2	3	0	2	3	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:42626464G>C	ENST00000372901.1	+	29	3402	c.3144G>C	c.(3142-3144)caG>caC	p.Q1048H	UBR2_ENST00000372883.3_Missense_Mutation_p.R556T|UBR2_ENST00000372899.1_Missense_Mutation_p.Q1048H			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1048					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCATGGCTCAGATGTCTGAAA	0.423													61	102					0	0	0	0	C	42626464	G	C	42626464	3	2	58	1	0	0	0	0	1	0	0	0	16998	933	33	2	3404	2	UBR2	6	42626464	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	38	42626464	128488603	355	10947											
CUL7	9820	broad.mit.edu	37	chr6	43015985	43015985	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaagtccaccagctgcttCaggattctgggggcagagaa	10	7	15	9	0	2	1	1	0	1	1	3	4	3	3	2	4	2	3	2	4	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:43015985C>T	ENST00000535468.1	-	9	2408	c.2322G>A	c.(2320-2322)ctG>ctA	p.L774L	CUL7_ENST00000265348.3_Silent_p.L690L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	690					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAGCTGCTTCAGGATTCTGG	0.617													47	187					0	0	0	0	T	43015985	C	T	43015985	2	4	58	1	0	0	0	0	0	0	0	1	4092	813	29	2		2	CUL7	6	43015985	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	389521	43015985	128099082	356	10948											
SLC22A7	10864	broad.mit.edu	37	chr6	43266316	43266316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcttccccgggagcctGatggcacgctcagctcctgc	5	8	10	18	2	2	1	1	1	1	0	4	2	4	2	5	2	3	3	5	2	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:43266316G>T	ENST00000372585.5	+	1	315	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372574.3_Missense_Mutation_p.D74Y|SLC22A7_ENST00000372589.3_Missense_Mutation_p.D74Y	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	74						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CCGGGAGCCTGATGGCACGCT	0.662													34	64					1.26612e-14	1.33555e-14	1	0	T	43266316	G	T	43266316	3	4	58	1	0	0	0	0	1	0	0	0	14547	1290	45	2	222	2	SLC22A7	6	43266316	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	250331	43266316	127848751	357	10949											
SPATS1	221409	broad.mit.edu	37	chr6	44329585	44329585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaagatgggcatcgtcctGagtggacattttacccaagg	11	9	12	9	1	0	3	0	1	0	2	2	4	1	4	2	3	1	1	2	3	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:44329585G>A	ENST00000288390.2	+	4	777	c.430G>A	c.(430-432)Gag>Aag	p.E144K	SPATS1_ENST00000323108.8_Missense_Mutation_p.E144K			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	144										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCATCGTCCTGAGTGGACATT	0.473													43	175					0	0	0	0	A	44329585	G	A	44329585	3	1	58	1	0	0	0	0	1	0	0	0	15108	1291	45	2	444	2	SPATS1	6	44329585	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1063269	44329585	126785482	358	10950											
TDRD6	221400	broad.mit.edu	37	chr6	46657053	46657053	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtcacaggtcggtgacctGaagacactgatactaggcaa	12	7	12	10	2	1	4	1	3	0	1	2	4	1	4	1	4	1	1	1	4	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:46657053G>A	ENST00000544460.1	+	1	1442	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	TDRD6_ENST00000316081.6_Silent_p.L396L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	396					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCGGTGACCTGAAGACACTGA	0.478													66	107					0	0	0	0	A	46657053	G	A	46657053	2	1	58	1	0	0	0	0	0	0	0	1	15828	1277	45	2		2	TDRD6	6	46657053	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2327468	46657053	124458014	359	10951											
TFAP2B	7021	broad.mit.edu	37	chr6	50807940	50807940	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcccgccaaagccgtctctGagtatttgaaccggcagcac	9	9	9	14	3	1	2	0	2	1	0	3	2	2	2	4	1	3	3	4	1	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:50807940G>C	ENST00000263046.4	+	7	1205	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	TFAP2B_ENST00000393655.3_Missense_Mutation_p.E338Q			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	338					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGCCGTCTCTGAGTATTTGAA	0.478													98	174					0	0	0	0	C	50807940	G	C	50807940	3	2	58	1	0	0	0	0	1	0	0	0	15882	1291	45	2	1034	2	TFAP2B	6	50807940	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4150887	50807940	120307127	360	10952											
PKHD1	5314	broad.mit.edu	37	chr6	51938280	51938280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctatcaatgtactcagcatCaaaatcaaaagtttccaatc	16	11	3	11	0	4	0	4	0	0	0	6	0	5	0	2	0	2	3	2	0	8	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:51938280C>T	ENST00000371117.3	-	7	783	c.508G>A	c.(508-510)Gat>Aat	p.D170N	PKHD1_ENST00000340994.4_Missense_Mutation_p.D170N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	170	IPT/TIG 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TACTCAGCATCAAAATCAAAA	0.358													83	144					0	0	0	0	T	51938280	C	T	51938280	3	4	58	1	0	0	0	0	1	0	0	0	12043	826	29	2	11999	2	PKHD1	6	51938280	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1130340	51938280	119176787	361	10953											
MCM3	4172	broad.mit.edu	37	chr6	52133882	52133882	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggcatctgaatcctcAccttcttaaagtaagcatac	12	10	6	13	0	3	1	1	1	2	0	4	1	4	1	3	1	2	3	3	1	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:52133882A>G	ENST00000596288.1	-	13	2131		c.e13+1		MCM3_ENST00000419835.2_Splice_Site|MCM3_ENST00000229854.7_Splice_Site	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CTGAATCCTCACCTTCTTAAA	0.532													62	140					0	0	0	0	G	52133882	A	G	52133882	5	3	58	1	0	0	0	0	0	0	1	0	9456	173	6	5	476	5	MCM3	6	52133882	Splice_Site	SNP	A	TCGA-CN-4723-01A-01D-1434-08	195602	52133882	118981185	362	10954											
BMP5	653	broad.mit.edu	37	chr6	55638959	55638959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagtacctcactcgccttGaagaaggccaccatgaatgg	13	7	10	11	1	1	4	1	2	0	2	2	4	1	4	4	2	1	1	4	2	5	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:55638959G>C	ENST00000370830.3	-	4	1613	c.915C>G	c.(913-915)ttC>ttG	p.F305L	BMP5_ENST00000446683.2_Missense_Mutation_p.F305L	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	305					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTCGCCTTGAAGAAGGCCA	0.453													126	221					0	0	0	0	C	55638959	G	C	55638959	3	2	58	1	0	0	0	0	1	0	0	0	1468	1281	45	2	465	2	BMP5	6	55638959	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3505077	55638959	115476108	363	10955											
COL12A1	1303	broad.mit.edu	37	chr6	75833986	75833986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataccatctgcagggcttaGttttagcctgtaggaggtgg	8	12	13	8	0	1	0	0	0	1	0	1	1	1	1	2	4	3	4	2	4	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:75833986G>C	ENST00000322507.8	-	41	7018	c.6709C>G	c.(6709-6711)Cta>Gta	p.L2237V	COL12A1_ENST00000345356.6_Missense_Mutation_p.L1073V|COL12A1_ENST00000483888.2_Missense_Mutation_p.L2237V|COL12A1_ENST00000416123.2_Missense_Mutation_p.L2237V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2237	Fibronectin type-III 18.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCAGGGCTTAGTTTTAGCCTG	0.378													4	116					0	0	0	0	C	75833986	G	C	75833986	3	2	58	1	0	0	0	0	1	0	0	0	3699	1020	36	4	2586	4	COL12A1	6	75833986	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	20195027	75833986	95281081	364	10956											
LCA5	167691	broad.mit.edu	37	chr6	80196747	80196747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgctacttcttcaatttCatcttctacagaatcagctg	10	15	5	11	0	6	1	3	0	3	1	6	1	6	1	0	0	4	2	0	0	4	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:80196747C>T	ENST00000392959.1	-	9	2679	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	LCA5_ENST00000369846.4_Missense_Mutation_p.E690K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	690					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCTTCAATTTCATCTTCTACA	0.303													53	59					0	0	0	0	T	80196747	C	T	80196747	3	4	58	1	0	0	0	0	1	0	0	0	8709	835	29	2	29	2	LCA5	6	80196747	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4362761	80196747	90918320	365	10957											
DOPEY1	23033	broad.mit.edu	37	chr6	83848789	83848789	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacatgggaaaagttctgcaGagagtggttgtttctgtgac	10	13	13	5	0	2	2	0	1	2	1	2	4	2	3	0	2	2	4	0	2	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:83848789G>C	ENST00000349129.2	+	21	5288	c.5028G>C	c.(5026-5028)caG>caC	p.Q1676H	DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q1667H|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q1657H|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1676					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGTTCTGCAGAGAGTGGTTG	0.403													3	124					0	0	0	0	C	83848789	G	C	83848789	3	2	58	1	0	0	0	0	1	0	0	0	4743	933	33	2	5102	2	DOPEY1	6	83848789	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3652042	83848789	87266278	366	10958											
GPR63	81491	broad.mit.edu	37	chr6	97246864	97246864	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagggtatgaagaaagaaatGagagaaatcaaaatcacata	23	6	9	3	0	2	5	2	2	0	3	2	6	2	5	0	1	0	1	0	1	9	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:97246864G>C	ENST00000229955.3	-	2	1089	c.744C>G	c.(742-744)ctC>ctG	p.L248L	GPR63_ENST00000417980.1_Silent_p.L248L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	248						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGAAAGAAATGAGAGAAATCA	0.473													72	81					0	0	0	0	C	97246864	G	C	97246864	2	2	58	1	0	0	0	0	0	0	0	1	6753	1277	45	2		2	GPR63	6	97246864	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	13398075	97246864	73868203	367	10959											
POU3F2	5454	broad.mit.edu	37	chr6	99282855	99282855	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcgcggggggctaccgcGaagcgcagagcctggtgcag	7	3	20	11	5	0	1	0	0	0	1	0	2	0	1	2	5	4	3	2	5	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:99282855G>T	ENST00000328345.5	+	1	276	c.106G>T	c.(106-108)Gaa>Taa	p.E36*		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	36					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	p.E36Q(1)		endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GGGCTACCGCGAAGCGCAGAG	0.711													7	24					4.93089e-13	5.18354e-13	1	0	T	99282855	G	T	99282855	4	4	58	1	0	0	0	0	0	1	0	0	12346	1059	37	3	108	3	POU3F2	6	99282855	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2035991	99282855	71832212	368	10960											
LAMA4	3910	broad.mit.edu	37	chr6	112508744	112508744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccccggatttgccttcctCgatggagagcgctgctaacc	7	9	10	15	3	0	1	0	0	0	1	2	4	1	2	5	2	4	2	5	2	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:112508744C>T	ENST00000230538.7	-	8	1271	c.874G>A	c.(874-876)Gag>Aag	p.E292K	LAMA4_ENST00000424408.2_Missense_Mutation_p.E285K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E285K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E285K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	292	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTGCCTTCCTCGATGGAGAGC	0.537													10	35					0	0	0	0	T	112508744	C	T	112508744	3	4	58	1	0	0	0	0	1	0	0	0	8661	893	31	1	4725	1	LAMA4	6	112508744	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	13225889	112508744	58606323	369	10961											
COL10A1	1300	broad.mit.edu	37	chr6	116442593	116442593	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacctttgatgcctggctgtCctggaaccccattttcacct	6	13	7	15	0	1	1	1	1	0	0	2	2	2	2	6	2	2	1	6	2	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:116442593C>G	ENST00000327673.4	-	2	1093	c.686G>C	c.(685-687)gGa>gCa	p.G229A	AL121963.1_ENST00000430695.1_Intron|NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.G229A			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	229	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GCCTGGCTGTCCTGGAACCCC	0.607													24	111					0	0	0	0	G	116442593	C	G	116442593	3	3	58	1	0	0	0	0	1	0	0	0	3696	855	30	2	1360	2	COL10A1	6	116442593	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3933849	116442593	54672474	370	10962											
RFX6	222546	broad.mit.edu	37	chr6	117232167	117232167	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccagaattccccagcgctCaacaccttgtataccaagga	12	9	6	14	1	1	1	1	0	0	1	3	2	3	2	5	1	3	2	5	1	5	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:117232167C>T	ENST00000332958.2	+	7	758	c.742C>T	c.(742-744)Caa>Taa	p.Q248*	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	248					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCCCAGCGCTCAACACCTTGT	0.363													40	169					0	0	0	0	T	117232167	C	T	117232167	4	4	58	1	0	0	0	0	0	1	0	0	13349	827	29	2	768	2	RFX6	6	117232167	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	789574	117232167	53882900	371	10963											
FAM184A	79632	broad.mit.edu	37	chr6	119345573	119345573	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtgagcagcttgcaagtCttccaatgccaatcgtttgt	8	14	9	10	1	2	1	0	1	2	0	4	1	3	1	2	0	4	4	2	0	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:119345573C>G	ENST00000338891.7	-	2	1008	c.565G>C	c.(565-567)Gac>Cac	p.D189H	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.D69H|FAM184A_ENST00000521531.1_Missense_Mutation_p.D189H|FAM184A_ENST00000368475.4_Missense_Mutation_p.D69H|FAM184A_ENST00000352896.5_Missense_Mutation_p.D69H	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	189										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTTGCAAGTCTTCCAATGCC	0.418													46	198					0	0	0	0	G	119345573	C	G	119345573	3	3	58	1	0	0	0	0	1	0	0	0	5553	913	32	2	2925	2	FAM184A	6	119345573	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2113406	119345573	51769494	372	10964											
SMPDL3A	10924	broad.mit.edu	37	chr6	123126144	123126144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actataatgagaaattgataGatatttttcaaaaatacagt	19	14	5	3	0	1	3	1	2	0	2	1	4	1	3	0	0	1	0	0	0	8	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:123126144G>C	ENST00000368440.4	+	6	1006	c.829G>C	c.(829-831)Gat>Cat	p.D277H	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.D146H	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	277					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		GAAATTGATAGATATTTTTCA	0.348													7	227					0	0	0	0	C	123126144	G	C	123126144	3	2	58	1	0	0	0	0	1	0	0	0	14896	942	33	2	851	2	SMPDL3A	6	123126144	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3780571	123126144	47988923	373	10965											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959708	129959708	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caatgctttcctgtggatctCcagcagactctccgaagaga	10	10	9	12	1	2	2	0	0	2	2	5	5	3	3	3	1	2	2	3	1	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:129959708C>G	ENST00000368149.2	-	3	471	c.383G>C	c.(382-384)gGa>gCa	p.G128A		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	128					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTGTGGATCTCCAGCAGACTC	0.473													48	102					0	0	0	0	G	129959708	C	G	129959708	3	3	58	1	0	0	0	0	1	0	0	0	870	855	30	2	1660	2	ARHGAP18	6	129959708	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6833564	129959708	41155359	374	10966											
L3MBTL3	84456	broad.mit.edu	37	chr6	130425591	130425591	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgccaactgtccctattCagaaatcaatttgaataaag	14	12	6	9	0	2	2	2	1	0	1	3	2	3	2	2	0	3	1	2	0	7	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:130425591C>G	ENST00000529410.1	+	21	2236	c.1757C>G	c.(1756-1758)tCa>tGa	p.S586*	L3MBTL3_ENST00000526019.1_Nonsense_Mutation_p.S561*|L3MBTL3_ENST00000368136.2_Nonsense_Mutation_p.S586*|L3MBTL3_ENST00000368139.2_Nonsense_Mutation_p.S561*|L3MBTL3_ENST00000361794.2_Nonsense_Mutation_p.S586*|L3MBTL3_ENST00000533560.1_Nonsense_Mutation_p.S561*			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	586					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGTCCCTATTCAGAAATCAAT	0.368													78	158					0	0	0	0	G	130425591	C	G	130425591	4	3	58	1	0	0	0	0	0	1	0	0	8646	838	29	2	1823	2	L3MBTL3	6	130425591	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	465883	130425591	40689476	375	10967											
MED23	9439	broad.mit.edu	37	chr6	131931197	131931197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtacataccttctgatgaaGagaaagcaccatatgtggaa	16	9	9	7	0	1	3	0	2	1	1	1	5	1	4	2	1	3	2	2	1	6	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:131931197G>A	ENST00000403834.3	-	11	1257	c.1084C>T	c.(1084-1086)Ctt>Ttt	p.L362F	MED23_ENST00000368068.3_Missense_Mutation_p.L356F|MED23_ENST00000368058.1_Missense_Mutation_p.L362F|MED23_ENST00000354577.4_Missense_Mutation_p.L362F|MED23_ENST00000545957.1_Missense_Mutation_p.L45F|MED23_ENST00000540546.1_Missense_Mutation_p.L362F|MED23_ENST00000368053.4_Missense_Mutation_p.L362F|MED23_ENST00000539158.1_Missense_Mutation_p.L356F|MED23_ENST00000368060.3_Missense_Mutation_p.L356F			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	356					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTCTGATGAAGAGAAAGCACC	0.428													30	79					0	0	0	0	A	131931197	G	A	131931197	3	1	58	1	0	0	0	0	1	0	0	0	9510	942	33	2	3123	2	MED23	6	131931197	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1505606	131931197	39183870	376	10968											
MAP3K5	4217	broad.mit.edu	37	chr6	136960771	136960771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcatctttcttcaaatttaGaaatactgaaaccaacaaac	18	11	3	9	0	3	2	1	1	2	1	3	2	3	2	1	0	5	1	1	0	7	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:136960771G>C	ENST00000359015.4	-	13	2204	c.1844C>G	c.(1843-1845)tCt>tGt	p.S615C	RP3-325F22.3_ENST00000432477.1_RNA|MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	615					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTCAAATTTAGAAATACTGAA	0.289													13	37					0	0	0	0	C	136960771	G	C	136960771	3	2	58	1	0	0	0	0	1	0	0	0	9322	942	33	2	2352	2	MAP3K5	6	136960771	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	5029574	136960771	34154296	377	10969											
IFNGR1	3459	broad.mit.edu	37	chr6	137525504	137525504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcacatacacattgtacaCcctaatgtaacaggtagttt	13	13	5	10	0	1	0	1	0	1	0	2	0	1	0	1	1	3	4	1	1	5	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:137525504C>T	ENST00000367739.4	-	4	632	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	IFNGR1_ENST00000543628.1_Missense_Mutation_p.V143M|IFNGR1_ENST00000367735.2_Missense_Mutation_p.V161M	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	171					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	ACATTGTACACCCTAATGTAA	0.378													49	191					0	0	0	0	T	137525504	C	T	137525504	3	4	58	1	0	0	0	0	1	0	0	0	7602	507	18	4	974	4	IFNGR1	6	137525504	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	564733	137525504	33589563	378	10970											
UTRN	7402	broad.mit.edu	37	chr6	144808819	144808819	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttcaacagccgatatgaaGatctaagtcacctggtaaga	14	10	8	9	1	3	3	2	1	1	2	3	4	3	3	2	1	2	1	2	1	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:144808819G>C	ENST00000367545.3	+	28	3958	c.3958G>C	c.(3958-3960)Gat>Cat	p.D1320H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1320					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCGATATGAAGATCTAAGTCA	0.458													34	92					0	0	0	0	C	144808819	G	C	144808819	3	2	58	1	0	0	0	0	1	0	0	0	17199	942	33	2	4068	2	UTRN	6	144808819	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	7283315	144808819	26306248	379	10971											
GRM1	2911	broad.mit.edu	37	chr6	146673564	146673564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctgctggacttcctcatCaagtcctcattcattggagt	9	13	8	11	0	4	0	4	0	0	0	6	2	6	2	2	2	2	2	2	2	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:146673564C>T	ENST00000392299.2	+	5	1835	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	GRM1_ENST00000492807.2_Silent_p.I455I|GRM1_ENST00000282753.1_Silent_p.I455I|GRM1_ENST00000507907.1_Silent_p.I455I|GRM1_ENST00000361719.2_Silent_p.I455I|GRM1_ENST00000355289.4_Silent_p.I455I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	455					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACTTCCTCATCAAGTCCTCAT	0.522													70	283					0	0	0	0	T	146673564	C	T	146673564	2	4	58	1	0	0	0	0	0	0	0	1	6846	816	29	2		2	GRM1	6	146673564	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1864745	146673564	24441503	380	10972											
SYNE1	23345	broad.mit.edu	37	chr6	152686067	152686067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaatagtgggaatgccttCtggagaagtattctgaagga	12	11	13	5	0	2	3	0	2	2	1	2	6	2	5	1	3	1	1	1	3	6	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:152686067C>G	ENST00000367255.5	-	63	10661	c.10060G>C	c.(10060-10062)Gaa>Caa	p.E3354Q	SYNE1_ENST00000265368.4_Missense_Mutation_p.E3354Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3361Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3361Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3393Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3354					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAATGCCTTCTGGAGAAGTA	0.438										HNSCC(10;0.0054)			36	123					0	0	0	0	G	152686067	C	G	152686067	3	3	58	1	0	0	0	0	1	0	0	0	15536	922	32	2	16742	2	SYNE1	6	152686067	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6012503	152686067	18429000	381	10973											
SYNE1	23345	broad.mit.edu	37	chr6	152686096	152686096	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tattctgaaggacagattctCccctggtcactatcattttc	9	15	6	11	0	4	2	2	1	2	1	6	3	4	3	2	2	0	0	2	2	3	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:152686096C>G	ENST00000367255.5	-	63	10632	c.10031G>C	c.(10030-10032)gGa>gCa	p.G3344A	SYNE1_ENST00000265368.4_Missense_Mutation_p.G3344A|SYNE1_ENST00000448038.1_Missense_Mutation_p.G3351A|SYNE1_ENST00000423061.1_Missense_Mutation_p.G3351A|SYNE1_ENST00000341594.5_Missense_Mutation_p.G3383A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3344					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACAGATTCTCCCCTGGTCAC	0.428										HNSCC(10;0.0054)			36	110					0	0	0	0	G	152686096	C	G	152686096	3	3	58	1	0	0	0	0	1	0	0	0	15536	855	30	2	16771	2	SYNE1	6	152686096	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	29	152686096	18428971	382	10974											
FNDC1	84624	broad.mit.edu	37	chr6	159654085	159654085	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcggctgcagccctccagCtccccacagtcgactgtgcc	5	7	9	20	2	0	0	0	0	0	0	4	1	2	0	6	1	4	3	6	1	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:159654085C>T	ENST00000297267.9	+	11	2741	c.2541C>T	c.(2539-2541)agC>agT	p.S847S	FNDC1_ENST00000340366.6_Silent_p.S784S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	847						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCCCTCCAGCTCCCCACAGT	0.607													7	16					0	0	0	0	T	159654085	C	T	159654085	2	4	58	1	0	0	0	0	0	0	0	1	6013	796	28	4		4	FNDC1	6	159654085	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6967989	159654085	11460982	383	10975											
LPA	4018	broad.mit.edu	37	chr6	160977188	160977188	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccattaccatggtagcactgCcggaccacaggggtttgctc	8	9	11	13	1	0	0	0	0	0	0	1	1	0	1	4	4	4	4	4	4	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:160977188C>T	ENST00000447678.1	-	31	4962	c.4842G>A	c.(4840-4842)cgG>cgA	p.R1614R	LPA_ENST00000316300.5_Silent_p.R1614R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4122	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGTAGCACTGCCGGACCACAG	0.468													4	161					0	0	0	0	T	160977188	C	T	160977188	2	4	58	1	0	0	0	0	0	0	0	1	8967	726	26	4		4	LPA	6	160977188	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1323103	160977188	10137879	384	10976											
PLG	5340	broad.mit.edu	37	chr6	161157959	161157959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaagcctcaagtggagccGaagaaatgtcctggaagggt	12	6	16	7	1	1	1	1	0	0	1	2	5	2	4	3	4	2	0	3	4	5	0	rs146030266		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:161157959G>A	ENST00000308192.9	+	14	1785	c.1722G>A	c.(1720-1722)ccG>ccA	p.P574P		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	574					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAGTGGAGCCGAAGAAATGTC	0.517													42	85					0	0	0	0	A	161157959	G	A	161157959	2	1	58	1	0	0	0	0	0	0	0	1	12158	1045	37	1		1	PLG	6	161157959	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	180771	161157959	9957108	385	10977											
MAP3K4	4216	broad.mit.edu	37	chr6	161470020	161470020	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctaaagcttacctcagtctCaaagaaaaaagacagggagc	17	6	9	9	0	2	2	2	0	1	2	3	3	2	3	1	1	3	2	1	1	7	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:161470020C>G	ENST00000392142.4	+	3	864	c.716C>G	c.(715-717)tCa>tGa	p.S239*	MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.S239*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.S239*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.S239*	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	239					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACCTCAGTCTCAAAGAAAAAA	0.433													21	70					0	0	0	0	G	161470020	C	G	161470020	4	3	58	1	0	0	0	0	0	1	0	0	9321	838	29	2	726	2	MAP3K4	6	161470020	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	312061	161470020	9645047	386	10978											
C6orf118	168090	broad.mit.edu	37	chr6	165693562	165693562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgttatcttctgtttcctCtgattttacaaattccttga	8	19	5	9	1	3	2	0	2	3	0	5	2	5	2	2	0	2	2	2	0	3	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:165693562C>G	ENST00000230301.8	-	9	1414	c.1394G>C	c.(1393-1395)aGa>aCa	p.R465T	C6orf118_ENST00000491176.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	465										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCTGTTTCCTCTGATTTTACA	0.323													27	63					0	0	0	0	G	165693562	C	G	165693562	3	3	58	1	0	0	0	0	1	0	0	0	2344	913	32	2	19	2	C6orf118	6	165693562	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4223542	165693562	5421505	387	10979											
RPS6KA2	6196	broad.mit.edu	37	chr6	166918077	166918077	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcagccaggtagaacttGacatcctcctccgtgaacat	11	9	8	13	1	1	3	1	2	0	1	4	3	4	3	4	1	4	2	4	1	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:166918077G>A	ENST00000510118.1	-	8	898	c.558C>T	c.(556-558)gtC>gtT	p.V186V	RPS6KA2_ENST00000366863.2_Silent_p.V7V|RPS6KA2_ENST00000265678.4_Silent_p.V161V|RPS6KA2_ENST00000503859.1_Silent_p.V169V|RPS6KA2_ENST00000481261.2_Silent_p.V72V|RPS6KA2_ENST00000405189.3_Silent_p.V72V			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	161	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGTAGAACTTGACATCCTCCT	0.413													52	119					0	0	0	0	A	166918077	G	A	166918077	2	1	58	1	0	0	0	0	0	0	0	1	13736	1277	45	2		2	RPS6KA2	6	166918077	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1224515	166918077	4196990	388	10980											
TCP10	6953	broad.mit.edu	37	chr6	167787923	167787923	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgccttcagaactccctaaGactgatgagcttctgtctaa	10	11	7	13	1	3	4	1	2	2	2	4	4	4	4	3	0	2	1	3	0	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:167787923G>C	ENST00000366827.2	-	7	916	c.705C>G	c.(703-705)gtC>gtG	p.V235V	TCP10_ENST00000397829.4_Silent_p.V235V			Q12799	TCP10_HUMAN	t-complex 10	262						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		AACTCCCTAAGACTGATGAGC	0.463													3	44					0	0	0	0	C	167787923	G	C	167787923	2	2	58	1	0	0	0	0	0	0	0	1	15804	929	33	2		2	TCP10	6	167787923	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	869846	167787923	3327144	389	10981											
HEATR2	54919	broad.mit.edu	37	chr7	794332	794332	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtggtggggacccgagtGaagtcggcacagctgctccc	6	7	17	11	2	0	1	0	1	0	0	2	3	1	2	2	5	2	3	2	5	1	0	rs151119269		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:794332G>A	ENST00000297440.6	+	5	1151	c.1131G>A	c.(1129-1131)gtG>gtA	p.V377V	HEATR2_ENST00000313147.5_Silent_p.V377V	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	377							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)		GGACCCGAGTGAAGTCGGCAC	0.672													68	174					0	0	0	0	A	794332	G	A	794332	2	1	58	1	0	0	0	0	0	0	0	1	7078	1277	45	2		2	HEATR2	7	794332	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08		794332	158344331	390	10982											
SUN1	23353	broad.mit.edu	37	chr7	912962	912962	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagttcatggcgaacctgtCaagtgaagacactactcatt	13	10	9	9	1	3	3	3	1	0	2	3	4	3	3	1	1	2	1	1	1	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:912962C>G	ENST00000456758.2	+	25	2919	c.2919C>G	c.(2917-2919)gtC>gtG	p.V973V	SUN1_ENST00000452783.2_Silent_p.V681V|SUN1_ENST00000401592.1_Silent_p.V784V|SUN1_ENST00000413514.2_Silent_p.V582V|SUN1_ENST00000405266.1_Silent_p.V821V|SUN1_ENST00000425407.2_Silent_p.V701V|SUN1_ENST00000389574.3_Silent_p.V701V			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	811					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCGAACCTGTCAAGTGAAGAC	0.428											OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	158					0	0	0	0	G	912962	C	G	912962	2	3	58	1	0	0	0	0	0	0	0	1	15481	813	29	2		2	SUN1	7	912962	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	118630	912962	158225701	391	10983											
MICALL2	79778	broad.mit.edu	37	chr7	1486399	1486399	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccaggtgccgctgtacCaggtgcacgtgcttgccgca	5	8	14	14	4	0	0	0	0	0	0	1	0	0	0	4	3	5	5	4	3	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:1486399C>G	ENST00000297508.7	-	5	766	c.591G>C	c.(589-591)ctG>ctC	p.L197L	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	197	LIM zinc-binding.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GCCGCTGTACCAGGTGCACGT	0.677													3	24					0	0	0	0	G	1486399	C	G	1486399	2	3	58	1	0	0	0	0	0	0	0	1	9643	581	21	4		4	MICALL2	7	1486399	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	573437	1486399	157652264	392	10984											
SLC29A4	222962	broad.mit.edu	37	chr7	5340094	5340094	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactggcggggcacccacctGctggcctgctcctgcctgcg	3	7	14	17	2	0	0	0	0	0	0	1	1	1	0	5	4	4	3	5	4	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:5340094G>C	ENST00000396872.2	+	10	1412	c.1251G>C	c.(1249-1251)ctG>ctC	p.L417L	SLC29A4_ENST00000297195.4_Silent_p.L417L|SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Silent_p.L403L	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	417					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCACCCACCTGCTGGCCTGCT	0.706													28	68					0	0	0	0	C	5340094	G	C	5340094	2	2	58	1	0	0	0	0	0	0	0	1	14625	1306	46	4		4	SLC29A4	7	5340094	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3853695	5340094	153798569	393	10985											
RNF216	54476	broad.mit.edu	37	chr7	5662575	5662575	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggaccgaagtcatagttGacccgcacgttgggcagagg	10	7	15	9	3	1	2	1	1	0	1	1	4	1	3	2	3	0	4	2	3	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:5662575G>A	ENST00000425013.2	-	17	2741	c.2517C>T	c.(2515-2517)gtC>gtT	p.V839V	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Silent_p.V896V	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	839	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGTCATAGTTGACCCGCACGT	0.642													75	203					0	0	0	0	A	5662575	G	A	5662575	2	1	58	1	0	0	0	0	0	0	0	1	13565	1277	45	2		2	RNF216	7	5662575	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	322481	5662575	153476088	394	10986											
RNF216	54476	broad.mit.edu	37	chr7	5662592	5662592	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgacccgcacgttgggcaGagggggcacgtacggggctg	6	6	19	10	4	0	2	0	1	0	1	0	2	0	2	1	5	1	7	1	5	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:5662592G>C	ENST00000425013.2	-	17	2724	c.2500C>G	c.(2500-2502)Ctg>Gtg	p.L834V	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.L891V	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	834	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ACGTTGGGCAGAGGGGGCACG	0.647													69	186					0	0	0	0	C	5662592	G	C	5662592	3	2	58	1	0	0	0	0	1	0	0	0	13565	933	33	2	104	2	RNF216	7	5662592	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	17	5662592	153476071	395	10987											
HDAC9	9734	broad.mit.edu	37	chr7	18624936	18624936	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaagttcctgtgggcctgGagcccatctcacctttagac	8	10	10	13	0	1	2	1	0	1	2	3	3	2	3	4	2	1	1	4	2	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:18624936G>T	ENST00000406451.3	+	3	205	c.55G>T	c.(55-57)Gag>Tag	p.E19*	HDAC9_ENST00000441542.2_Nonsense_Mutation_p.E19*|HDAC9_ENST00000428307.2_Nonsense_Mutation_p.E19*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.E19*|HDAC9_ENST00000405010.3_Nonsense_Mutation_p.E19*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.E19*|HDAC9_ENST00000524023.1_5'UTR|HDAC9_ENST00000406072.1_Nonsense_Mutation_p.E47*|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000417496.2_Nonsense_Mutation_p.E61*|HDAC9_ENST00000456174.2_5'UTR	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	19					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGTGGGCCTGGAGCCCATCTC	0.483													95	245					3.17824e-57	3.4562e-57	1	0	T	18624936	G	T	18624936	4	4	58	1	0	0	0	0	0	1	0	0	7064	1175	41	2	61	2	HDAC9	7	18624936	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	12962344	18624936	140513727	396	10988											
CDCA7L	55536	broad.mit.edu	37	chr7	21947813	21947813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgaactctcctggctctCatcccgagagtcatcctcag	8	11	7	15	1	5	2	3	1	3	1	9	3	7	2	3	1	1	1	3	1	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:21947813C>T	ENST00000406877.3	-	4	895	c.616G>A	c.(616-618)Gag>Aag	p.E206K	CDCA7L_ENST00000356195.5_Missense_Mutation_p.E172K|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.E160K	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	206					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCCTGGCTCTCATCCCGAGAG	0.463													22	49					0	0	0	0	T	21947813	C	T	21947813	3	4	58	1	0	0	0	0	1	0	0	0	3120	835	29	2	776	2	CDCA7L	7	21947813	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3322877	21947813	137190850	397	10989											
MPP6	51678	broad.mit.edu	37	chr7	24703280	24703280	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgcaaagaagcaggattGaagttttccaaaggagagat	15	9	11	6	0	0	3	0	1	0	2	1	6	1	5	2	2	2	3	2	2	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:24703280G>A	ENST00000396475.2	+	7	1022	c.723G>A	c.(721-723)ttG>ttA	p.L241L	MPP6_ENST00000222644.4_Silent_p.L241L|MPP6_ENST00000409761.1_Silent_p.L129L	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	241	SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AAGCAGGATTGAAGTTTTCCA	0.338													41	114					0	0	0	0	A	24703280	G	A	24703280	2	1	58	1	0	0	0	0	0	0	0	1	9808	1281	45	2		2	MPP6	7	24703280	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2755467	24703280	134435383	398	10990											
TBX20	57057	broad.mit.edu	37	chr7	35242187	35242187	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggagctggcaatggccGatggtgtcagaggcattccc	8	8	15	10	1	1	1	1	0	0	1	2	3	2	2	2	5	1	4	2	5	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:35242187G>T	ENST00000408931.3	-	8	1725	c.1199C>A	c.(1198-1200)tCg>tAg	p.S400*		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	400						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGCAATGGCCGATGGTGTCAG	0.562													16	51					9.7654e-05	0.000100177	1	0	T	35242187	G	T	35242187	4	4	58	1	0	0	0	0	0	1	0	0	15750	1059	37	3	147	3	TBX20	7	35242187	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	10538907	35242187	123896476	399	10991											
VPS41	27072	broad.mit.edu	37	chr7	38785180	38785180	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagataaactgtctcttCtacaaagtttctctgttgac	12	14	6	9	0	3	3	0	1	3	2	5	3	3	3	0	0	2	2	0	0	5	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:38785180C>G	ENST00000310301.4	-	23	2014	c.1960G>C	c.(1960-1962)Gaa>Caa	p.E654Q	VPS41_ENST00000395969.2_Missense_Mutation_p.E629Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	654					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACTGTCTCTTCTACAAAGTTT	0.338													62	167					0	0	0	0	G	38785180	C	G	38785180	3	3	58	1	0	0	0	0	1	0	0	0	17306	922	32	2	632	2	VPS41	7	38785180	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3542993	38785180	120353483	400	10992											
CDK13	8621	broad.mit.edu	37	chr7	40134276	40134276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatatggagacatttacctCaatgctggtcccatgttgtt	9	14	10	8	0	1	1	1	0	0	1	2	3	2	2	2	3	2	3	2	3	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:40134276C>T	ENST00000181839.4	+	14	4841	c.4236C>T	c.(4234-4236)ctC>ctT	p.L1412L	CDK13_ENST00000340829.5_Silent_p.L1352L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1412					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ACATTTACCTCAATGCTGGTC	0.473													82	235					0	0	0	0	T	40134276	C	T	40134276	2	4	58	1	0	0	0	0	0	0	0	1	3158	813	29	2		2	CDK13	7	40134276	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1349096	40134276	119004387	401	10993											
ADCY1	107	broad.mit.edu	37	chr7	45662289	45662289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catcccagtgcacagcccagGagctggtgaaactcctcaat	11	7	9	14	0	1	1	1	1	0	0	3	2	3	2	3	2	4	2	3	2	2	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:45662289G>C	ENST00000297323.7	+	4	989	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	ADCY1_ENST00000432715.1_Missense_Mutation_p.E98Q	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	323					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CACAGCCCAGGAGCTGGTGAA	0.507													10	65					0	0	0	0	C	45662289	G	C	45662289	3	2	58	1	0	0	0	0	1	0	0	0	292	1175	41	2	981	2	ADCY1	7	45662289	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	5528013	45662289	113476374	402	10994											
ABCA13	154664	broad.mit.edu	37	chr7	48314889	48314889	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagattcaccatgttcaaatGaaagctcccgaatggaaata	17	9	7	8	1	2	2	2	1	0	1	3	4	3	3	2	1	1	2	2	1	6	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:48314889G>C	ENST00000435803.1	+	17	5650	c.5626G>C	c.(5626-5628)Gaa>Caa	p.E1876Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1876					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						ATGTTCAAATGAAAGCTCCCG	0.423													33	98					0	0	0	0	C	48314889	G	C	48314889	3	2	58	1	0	0	0	0	1	0	0	0	31	1291	45	2	5521	2	ABCA13	7	48314889	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2652600	48314889	110823774	403	10995											
ABCA13	154664	broad.mit.edu	37	chr7	48315502	48315502	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaatcagacacctgctttCtgaaatgaacaaaggaatca	17	9	7	8	0	3	4	2	2	1	2	3	5	3	5	1	1	2	1	1	1	6	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:48315502C>G	ENST00000435803.1	+	17	6263	c.6239C>G	c.(6238-6240)tCt>tGt	p.S2080C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2080					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						CACCTGCTTTCTGAAATGAAC	0.363													15	52					0	0	0	0	G	48315502	C	G	48315502	3	3	58	1	0	0	0	0	1	0	0	0	31	913	32	2	6134	2	ABCA13	7	48315502	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	613	48315502	110823161	404	10996											
COBL	23242	broad.mit.edu	37	chr7	51095705	51095705	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctccctgctgcaggcctGagtgtcagatgtgtgtggag	6	10	15	10	0	1	2	1	1	0	1	2	3	2	3	2	2	3	3	2	2	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:51095705G>C	ENST00000395542.2	-	12	3518	c.3334C>G	c.(3334-3336)Cag>Gag	p.Q1112E	COBL_ENST00000265136.7_Missense_Mutation_p.Q1030E			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1030	WH2 1.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGCAGGCCTGAGTGTCAGAT	0.622													29	80					0	0	0	0	C	51095705	G	C	51095705	3	2	58	1	0	0	0	0	1	0	0	0	3683	1299	45	2	713	2	COBL	7	51095705	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2780203	51095705	108042958	405	10997											
POM121L12	285877	broad.mit.edu	37	chr7	53103598	53103598	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtgcccagcacccacctcatCgaggtgcggcccacccagga	8	4	11	18	2	1	0	1	0	0	0	2	2	1	1	5	3	3	1	5	3	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:53103598C>G	ENST00000408890.4	+	1	250	c.234C>G	c.(232-234)atC>atG	p.I78M		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	78										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCACCTCATCGAGGTGCGGC	0.716													4	27					0	0	0	0	G	53103598	C	G	53103598	3	3	58	1	0	0	0	0	1	0	0	0	12313	874	31	3	236	3	POM121L12	7	53103598	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2007893	53103598	106035065	406	10998											
KCTD7	154881	broad.mit.edu	37	chr7	66248715	66248715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaccggcaaaccagcattGaaacggatagagtgtctaag	16	7	10	8	2	1	2	0	1	1	1	1	3	1	3	2	2	4	2	2	2	6	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:66248715G>A	ENST00000380828.2	+	6	674	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	KCTD7_ENST00000451741.2_Missense_Mutation_p.E134K|KCTD7_ENST00000510829.2_Missense_Mutation_p.E134K|RABGEF1_ENST00000439720.2_Missense_Mutation_p.E147K|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000450873.2_Missense_Mutation_p.E134K|RABGEF1_ENST00000284957.5_Missense_Mutation_p.E134K|RABGEF1_ENST00000437078.2_Missense_Mutation_p.E148K			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AACCAGCATTGAAACGGATAG	0.393													23	50					0	0	0	0	A	66248715	G	A	66248715	3	1	58	1	0	0	0	0	1	0	0	0	8167	1291	45	2		2	KCTD7	7	66248715	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	13145117	66248715	92889948	407	10999											
DNAJC30	84277	broad.mit.edu	37	chr7	73097515	73097515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccgcgctcccggagttgCggtccgggtggtagagaaag	6	7	16	12	5	0	1	0	0	0	1	3	3	3	2	4	4	1	3	4	4	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:73097515C>T	ENST00000395176.2	-	1	268	c.239G>A	c.(238-240)cGc>cAc	p.R80H	WBSCR22_ENST00000464615.1_3'UTR	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	80	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)	4						CCCGGAGTTGCGGTCCGGGTG	0.667													4	133					0	0	0	0	T	73097515	C	T	73097515	3	4	58	1	0	0	0	0	1	0	0	0	4684	768	27	1	445	1	DNAJC30	7	73097515	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6848800	73097515	86041148	408	11000											
LIMK1	3984	broad.mit.edu	37	chr7	73523309	73523309	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctacaaggacaagaggctCaacttcatcactgagtacat	14	9	7	11	0	4	2	3	1	1	1	4	3	4	3	0	2	3	2	0	2	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:73523309C>G	ENST00000418310.1	+	10	1419	c.1317C>G	c.(1315-1317)ctC>ctG	p.L439L	LIMK1_ENST00000538333.3_Silent_p.L375L|LIMK1_ENST00000336180.2_Silent_p.L409L			P53667	LIMK1_HUMAN	LIM domain kinase 1	409	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				ACAAGAGGCTCAACTTCATCA	0.622													19	31					0	0	0	0	G	73523309	C	G	73523309	2	3	58	1	0	0	0	0	0	0	0	1	8855	813	29	2		2	LIMK1	7	73523309	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	425794	73523309	85615354	409	11001											
CACNA2D1	781	broad.mit.edu	37	chr7	81603800	81603800	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttggagtttttctatcaAtaaactcgttgaaatttaaa	13	18	6	4	1	2	1	1	1	1	0	3	2	2	2	0	1	1	3	0	1	7	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:81603800A>C	ENST00000356860.3	-	25	2362	c.2024T>G	c.(2023-2025)aTt>aGt	p.I675S	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.I687S	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	687						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTTTCTATCAATAAACTCGTT	0.284													3	38					0	0	0	0	C	81603800	A	C	81603800	3	2	58	1	0	0	0	0	1	0	0	0	2573	101	4	5	1311	5	CACNA2D1	7	81603800	Missense_Mutation	SNP	A	TCGA-CN-4723-01A-01D-1434-08	8080491	81603800	77534863	410	11002											
PCLO	27445	broad.mit.edu	37	chr7	82474791	82474791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatcaacccctggggatttCgccttatccactacaacaaa	12	9	7	13	1	1	0	1	0	0	0	3	2	2	2	4	3	3	0	4	3	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:82474791C>T	ENST00000423517.2	-	13	14179	c.13842G>A	c.(13840-13842)gcG>gcA	p.A4614A	PCLO_ENST00000333891.8_Silent_p.A4614A|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4502	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGGGGATTTCGCCTTATCCA	0.418													6	19					0	0	0	0	T	82474791	C	T	82474791	2	4	58	1	0	0	0	0	0	0	0	1	11654	871	31	1		1	PCLO	7	82474791	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	870991	82474791	76663872	411	11003											
PCLO	27445	broad.mit.edu	37	chr7	82545543	82545543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggctgagtctgataaggtGaaacttgctgatggtacaaa	12	12	12	5	0	1	4	0	4	1	0	1	4	1	4	0	3	3	3	0	3	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:82545543G>A	ENST00000423517.2	-	7	12096	c.11759C>T	c.(11758-11760)tCa>tTa	p.S3920L	PCLO_ENST00000437081.1_Missense_Mutation_p.S640L|PCLO_ENST00000333891.8_Missense_Mutation_p.S3920L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3851					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGATAAGGTGAAACTTGCTG	0.463													114	440					0	0	0	0	A	82545543	G	A	82545543	3	1	58	1	0	0	0	0	1	0	0	0	11654	1294	45	2	3762	2	PCLO	7	82545543	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	70752	82545543	76593120	412	11004											
GRM3	2913	broad.mit.edu	37	chr7	86468181	86468181	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaacccaaataaagatgcaGatagcatagtcaagtttgac	17	9	7	8	0	2	3	2	1	0	2	2	3	2	3	1	0	3	3	1	0	7	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:86468181G>C	ENST00000361669.2	+	4	2450	c.1351G>C	c.(1351-1353)Gat>Cat	p.D451H	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.D43H|GRM3_ENST00000536043.1_Missense_Mutation_p.D323H|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	451					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TAAAGATGCAGATAGCATAGT	0.358													5	34					0	0	0	0	C	86468181	G	C	86468181	3	2	58	1	0	0	0	0	1	0	0	0	6848	942	33	2	1361	2	GRM3	7	86468181	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3922638	86468181	72670482	413	11005											
GRM3	2913	broad.mit.edu	37	chr7	86468291	86468291	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagttggtcactgggcAgaaaccttatcgctagatgt	11	12	11	7	1	1	3	1	1	0	2	2	3	1	3	1	2	1	3	1	2	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:86468291A>T	ENST00000361669.2	+	4	2560	c.1461A>T	c.(1459-1461)gcA>gcT	p.A487A	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.A79A|GRM3_ENST00000536043.1_Silent_p.A359A|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	487					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTCACTGGGCAGAAACCTTAT	0.468													21	51					0	0	0	0	T	86468291	A	T	86468291	2	4	58	1	0	0	0	0	0	0	0	1	6848	175	7	5		5	GRM3	7	86468291	Silent	SNP	A	TCGA-CN-4723-01A-01D-1434-08	110	86468291	72670372	414	11006											
ABCB1	5243	broad.mit.edu	37	chr7	87195516	87195516	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccattgactgaaagaacattCcaattttgtcaccaattcct	13	13	4	11	0	1	3	1	2	0	1	3	3	3	3	4	0	1	0	4	0	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:87195516C>G	ENST00000265724.3	-	8	989	c.572G>C	c.(571-573)gGa>gCa	p.G191A	ABCB1_ENST00000543898.1_Missense_Mutation_p.G127A	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	191	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AAAGAACATTCCAATTTTGTC	0.363													5	150					0	0	0	0	G	87195516	C	G	87195516	3	3	58	1	0	0	0	0	1	0	0	0	40	855	30	2	3358	2	ABCB1	7	87195516	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	727225	87195516	71943147	415	11007											
ADAM22	53616	broad.mit.edu	37	chr7	87564431	87564431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgcgcctcatctaccgctCgggcggcgaagacgaaagtc	9	6	12	14	6	2	1	1	0	1	1	4	3	2	1	2	2	2	1	2	2	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:87564431C>T	ENST00000398204.4	+	2	499	c.176C>T	c.(175-177)tCg>tTg	p.S59L	ADAM22_ENST00000398209.3_Missense_Mutation_p.S59L|ADAM22_ENST00000439864.1_Missense_Mutation_p.S59L|ADAM22_ENST00000265727.7_Missense_Mutation_p.S59L|ADAM22_ENST00000398201.4_Missense_Mutation_p.S59L|ADAM22_ENST00000315984.7_Missense_Mutation_p.S59L	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	59					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATCTACCGCTCGGGCGGCGAA	0.667													15	52					0	0	0	0	T	87564431	C	T	87564431	3	4	58	1	0	0	0	0	1	0	0	0	244	893	31	1	182	1	ADAM22	7	87564431	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	368915	87564431	71574232	416	11008											
C7orf63	79846	broad.mit.edu	37	chr7	89906554	89906554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcaaaatcttttggtaaaagGacttaagctttctaattcct	13	16	5	7	0	3	0	1	0	2	0	4	1	4	1	1	2	1	2	1	2	6	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:89906554G>C	ENST00000389297.4	+	11	1312	c.1061G>C	c.(1060-1062)gGa>gCa	p.G354A	C7orf63_ENST00000497910.1_Missense_Mutation_p.G336A|C7orf63_ENST00000316089.8_Missense_Mutation_p.G354A	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	354							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTGGTAAAAGGACTTAAGCTT	0.274													9	70					0	0	0	0	C	89906554	G	C	89906554	3	2	58	1	0	0	0	0	1	0	0	0	2432	1174	41	2	1103	2	C7orf63	7	89906554	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2342123	89906554	69232109	417	11009											
COL1A2	1278	broad.mit.edu	37	chr7	94049587	94049587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctggtcctgctggtcctCggggaagccctgtaagtaag	6	10	14	11	1	0	0	0	0	0	0	3	1	2	1	3	4	3	4	3	4	3	2	rs139199272		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:94049587C>T	ENST00000297268.6	+	35	2593	c.2122C>T	c.(2122-2124)Cgg>Tgg	p.R708W		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	708			Missing (in OI2A).|R -> Q (in Marfan syndrome).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	tgctggtcctCGGGGAAGCCC	0.448										HNSCC(75;0.22)			45	126					0	0	0	0	T	94049587	C	T	94049587	3	4	58	1	0	0	0	0	1	0	0	0	3708	875	31	1	2260	1	COL1A2	7	94049587	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4143033	94049587	65089076	418	11010											
PEG10	23089	broad.mit.edu	37	chr7	94293385	94293385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaaacgcaagatcagaCgcctgcgccaaggcatgggg	11	5	13	12	3	1	2	1	0	0	2	1	2	1	2	3	3	3	2	3	3	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:94293385C>T	ENST00000482108.1	+	2	996	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	PEG10_ENST00000488574.1_Missense_Mutation_p.R173C	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	173	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.R173C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAGATCAGACGCCTGCGCCA	0.527													61	229					0	0	0	0	T	94293385	C	T	94293385	3	4	58	1	0	0	0	0	1	0	0	0	11790	536	19	1	751	1	PEG10	7	94293385	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	243798	94293385	64845278	419	11011											
PPP1R9A	55607	broad.mit.edu	37	chr7	94881322	94881322	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactgaagcaaaatgggactCaagttaacaataataacaac	20	8	6	7	0	1	1	1	1	0	0	1	2	1	2	0	1	5	2	0	1	10	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:94881322C>G	ENST00000289495.5	+	10	2695	c.2479C>G	c.(2479-2481)Caa>Gaa	p.Q827E	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.Q827E|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.Q827E|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.Q827E|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.Q827E|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.Q849E	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	827	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAATGGGACTCAAGTTAACAA	0.398										HNSCC(28;0.073)			21	90					0	0	0	0	G	94881322	C	G	94881322	3	3	58	1	0	0	0	0	1	0	0	0	12454	827	29	2	2587	2	PPP1R9A	7	94881322	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	587937	94881322	64257341	420	11012											
GIGYF1	64599	broad.mit.edu	37	chr7	100279772	100279772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttggcaaattctttggcttCcagcgtgtcccccaggcagg	6	12	11	12	1	1	0	0	0	1	0	3	0	3	0	3	4	1	3	3	4	1	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100279772C>T	ENST00000275732.5	-	22	4057	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	950										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTTTGGCTTCCAGCGTGTCC	0.597													24	68					0	0	0	0	T	100279772	C	T	100279772	3	4	58	1	0	0	0	0	1	0	0	0	6428	864	30	2	271	2	GIGYF1	7	100279772	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5398450	100279772	58858891	421	11013											
MUC17	140453	broad.mit.edu	37	chr7	100677779	100677779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcacctcctcccactgctGaaggtaccagcatgccaacc	9	8	7	17	0	1	1	1	1	0	0	3	1	3	1	6	1	5	4	6	1	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100677779G>A	ENST00000306151.4	+	3	3146	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1028	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCCACTGCTGAAGGTACCAG	0.517													152	419					0	0	0	0	A	100677779	G	A	100677779	3	1	58	1	0	0	0	0	1	0	0	0	10044	1291	45	2	3092	2	MUC17	7	100677779	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	398007	100677779	58460884	422	11014											
MUC17	140453	broad.mit.edu	37	chr7	100683350	100683350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacgccggtggccagttctGaggctagcaccctttcaaca	8	8	10	15	2	2	1	1	1	1	0	2	1	2	1	4	3	2	3	4	3	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100683350G>A	ENST00000306151.4	+	3	8717	c.8653G>A	c.(8653-8655)Gag>Aag	p.E2885K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2885	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.483													145	425					0	0	0	0	A	100683350	G	A	100683350	3	1	58	1	0	0	0	0	1	0	0	0	10044	1291	45	2	8663	2	MUC17	7	100683350	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	5571	100683350	58455313	423	11015											
MUC17	140453	broad.mit.edu	37	chr7	100683466	100683466	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatgccaatctcaactccTagtgaagtaagtactccatt	13	11	6	11	0	1	1	1	1	1	0	4	1	3	1	3	0	4	3	3	0	6	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100683466T>C	ENST00000306151.4	+	3	8833	c.8769T>C	c.(8767-8769)ccT>ccC	p.P2923P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2923	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTCAACTCCTAGTGAAGTAA	0.483													154	355					0	0	0	0	C	100683466	T	C	100683466	2	2	58	1	0	0	0	0	0	0	0	1	10044	1509	53	5		5	MUC17	7	100683466	Silent	SNP	T	TCGA-CN-4723-01A-01D-1434-08	116	100683466	58455197	424	11016											
MUC17	140453	broad.mit.edu	37	chr7	100684033	100684033	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccattaacaggtgtgcctgtCagcaccacaccggtgaccag	10	7	10	14	1	1	1	1	1	0	0	1	1	1	1	5	2	3	1	5	2	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100684033C>G	ENST00000306151.4	+	3	9400	c.9336C>G	c.(9334-9336)gtC>gtG	p.V3112V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3112	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGTGCCTGTCAGCACCACAC	0.493													157	397					0	0	0	0	G	100684033	C	G	100684033	2	3	58	1	0	0	0	0	0	0	0	1	10044	813	29	2		2	MUC17	7	100684033	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	567	100684033	58454630	425	11017											
PRKRIP1	79706	broad.mit.edu	37	chr7	102047920	102047920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattactggcaaagaagatGaaacttgaacagaagaaaca	22	6	8	5	0	0	6	0	2	0	4	0	6	0	6	0	1	4	1	0	1	8	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:102047920G>A	ENST00000496391.1	+	9	1742	c.432G>A	c.(430-432)atG>atA	p.M144I	PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000462601.1_Missense_Mutation_p.M87I|PRKRIP1_ENST00000354783.4_Intron|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.M144I			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	144						nucleolus				endometrium(1)|lung(4)|ovary(1)	6						CAAAGAAGATGAAACTTGAAC	0.353													19	36					0	0	0	0	A	102047920	G	A	102047920	3	1	58	1	0	0	0	0	1	0	0	0	12605	1290	45	2	450	2	PRKRIP1	7	102047920	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1363887	102047920	57090743	426	11018											
SLC26A5	375611	broad.mit.edu	37	chr7	103014907	103014907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcctgggaagggggagccGaggcttcctgttcagcaagt	7	8	15	11	1	1	0	1	0	0	0	3	3	3	2	4	4	2	3	4	4	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:103014907G>A	ENST00000306312.3	-	20	2435	c.2174C>T	c.(2173-2175)tCg>tTg	p.S725L	SLC26A5_ENST00000393727.1_Missense_Mutation_p.S727L|SLC26A5_ENST00000393729.1_Missense_Mutation_p.S688L|SLC26A5_ENST00000393730.1_Missense_Mutation_p.S693L|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.S158L|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.S693L|SLC26A5_ENST00000393723.1_Missense_Mutation_p.S695L	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	725					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AGGGGGAGCCGAGGCTTCCTG	0.532													26	68					0	0	0	0	A	103014907	G	A	103014907	3	1	58	1	0	0	0	0	1	0	0	0	14608	1059	37	1	105	1	SLC26A5	7	103014907	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	966987	103014907	56123756	427	11019											
RINT1	60561	broad.mit.edu	37	chr7	105189098	105189098	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaggttatgctgactcctCttcagaagaggttcaggtat	9	13	10	9	0	3	3	2	1	1	2	5	3	5	3	2	3	1	4	2	3	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:105189098C>G	ENST00000257700.2	+	7	1168	c.937C>G	c.(937-939)Ctt>Gtt	p.L313V		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	313	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCTGACTCCTCTTCAGAAGAG	0.463													5	349					0	0	0	0	G	105189098	C	G	105189098	3	3	58	1	0	0	0	0	1	0	0	0	13461	913	32	2	963	2	RINT1	7	105189098	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2174191	105189098	53949565	428	11020											
CDHR3	222256	broad.mit.edu	37	chr7	105624678	105624678	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagagcaaaccctggattCatttaccaggttgaggcctt	12	10	10	9	0	1	2	1	1	0	1	1	4	1	3	3	3	3	2	3	3	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:105624678C>T	ENST00000542731.1	+	4	564	c.456C>T	c.(454-456)ttC>ttT	p.F152F	CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000317716.9_Silent_p.F152F|CDHR3_ENST00000478080.1_Silent_p.F64F|CDHR3_ENST00000541203.1_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	152	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ACCCTGGATTCATTTACCAGG	0.438													8	45					0	0	0	0	T	105624678	C	T	105624678	2	4	58	1	0	0	0	0	0	0	0	1	3149	825	29	2		2	CDHR3	7	105624678	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	435580	105624678	53513985	429	11021											
THAP5	168451	broad.mit.edu	37	chr7	108204874	108204874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatgttcgatttgtaaaaCttctgtcccatagtctacat	12	15	6	8	1	2	1	0	0	2	1	4	2	3	1	1	0	2	2	1	0	5	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:108204874C>G	ENST00000415914.3	-	3	1102	c.949G>C	c.(949-951)Gtt>Ctt	p.V317L	THAP5_ENST00000313516.5_Missense_Mutation_p.V275L|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	317					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						ATTTGTAAAACTTCTGTCCCA	0.348													54	191					0	0	0	0	G	108204874	C	G	108204874	3	3	58	1	0	0	0	0	1	0	0	0	15941	565	20	4	242	4	THAP5	7	108204874	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2580196	108204874	50933789	430	11022											
CFTR	1080	broad.mit.edu	37	chr7	117243763	117243763	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catactctaatcacagtgtcGaaaattttacaccacaaaat	17	11	3	10	1	2	0	1	0	1	0	3	1	2	0	1	0	2	0	1	0	7	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:117243763G>A	ENST00000003084.6	+	17	2967	c.2835G>A	c.(2833-2835)tcG>tcA	p.S945S	CFTR_ENST00000454343.1_Silent_p.S884S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	945	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.S945S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCACAGTGTCGAAAATTTTAC	0.398									Cystic Fibrosis				49	118					0	0	0	0	A	117243763	G	A	117243763	2	1	58	1	0	0	0	0	0	0	0	1	3323	1045	37	1		1	CFTR	7	117243763	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	9038889	117243763	41894900	431	11023											
KCND2	3751	broad.mit.edu	37	chr7	119915729	119915729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatgttctacgcagagaaggGgtcttcggctagcaagttca	10	11	12	8	2	3	1	1	0	2	1	4	2	3	1	0	3	2	5	0	3	5	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:119915729G>T	ENST00000331113.4	+	1	2008	c.1043G>T	c.(1042-1044)gGg>gTg	p.G348V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	348					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCAGAGAAGGGGTCTTCGGCT	0.493													36	145					9.85521e-28	1.05677e-27	1	0	T	119915729	G	T	119915729	3	4	58	1	0	0	0	0	1	0	0	0	8072	1232	43	4	1045	4	KCND2	7	119915729	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2671966	119915729	39222934	432	11024											
PTN	5764	broad.mit.edu	37	chr7	137028320	137028320	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctctccccgccttctggacgGatgactcactggtctctttc	4	13	8	16	2	4	1	1	1	3	0	7	3	4	3	3	3	0	0	3	3	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:137028320G>C	ENST00000348225.2	-	0	291				PTN_ENST00000393083.2_De_novo_Start_OutOfFrame	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin						nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CTTCTGGACGGATGACTCACT	0.607													21	66					0	0	0	0	C	137028320	G	C	137028320	1	2	58	1	0	0	0	0	0	0	0	0	12848	1189	41	2		2	PTN	7	137028320	Translation_Start_Site	SNP	G	TCGA-CN-4723-01A-01D-1434-08	17112591	137028320	22110343	433	11025											
TRIM24	8805	broad.mit.edu	37	chr7	138235861	138235861	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgtgatgcatccccagtGaccaacaacaccatccaatt	13	8	7	13	0	0	2	0	2	0	0	2	2	2	2	5	1	3	1	5	1	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:138235861G>A	ENST00000343526.4	+	8	1412	c.1197G>A	c.(1195-1197)gtG>gtA	p.V399V	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Silent_p.V399V			O15164	TIF1A_HUMAN	tripartite motif containing 24	399					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CATCCCCAGTGACCAACAACA	0.403													42	154					0	0	0	0	A	138235861	G	A	138235861	2	1	58	1	0	0	0	0	0	0	0	1	16593	1277	45	2		2	TRIM24	7	138235861	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1207541	138235861	20902802	434	11026											
TBXAS1	6916	broad.mit.edu	37	chr7	139572057	139572057	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccacatcagcattctcaaGactggagaagttaggcctca	12	9	8	12	0	3	2	3	0	1	2	5	3	4	2	2	2	1	2	2	2	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:139572057G>C	ENST00000263552.6	+	6	654	c.116G>C	c.(115-117)aGa>aCa	p.R39T	TBXAS1_ENST00000425687.1_5'UTR|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000539806.1_Missense_Mutation_p.R39T|TBXAS1_ENST00000416849.2_Missense_Mutation_p.R39T|TBXAS1_ENST00000411653.1_Missense_Mutation_p.R38T|TBXAS1_ENST00000414508.2_Missense_Mutation_p.R39T|TBXAS1_ENST00000455353.1_Missense_Mutation_p.R38T|TBXAS1_ENST00000458722.1_Missense_Mutation_p.R38T|TBXAS1_ENST00000448866.1_Missense_Mutation_p.R38T|TBXAS1_ENST00000436047.2_Missense_Mutation_p.R39T|TBXAS1_ENST00000336425.5_Missense_Mutation_p.R38T	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	38					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GCATTCTCAAGACTGGAGAAG	0.443													62	162					0	0	0	0	C	139572057	G	C	139572057	3	2	58	1	0	0	0	0	1	0	0	0	15758	942	33	2	122	2	TBXAS1	7	139572057	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1336196	139572057	19566606	435	11027											
MGAM	8972	broad.mit.edu	37	chr7	141752582	141752582	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttggccttacttttcAggcatccaattcttctggag	7	16	8	10	0	3	1	1	1	2	0	4	2	4	2	2	3	1	1	2	3	2	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:141752582A>G	ENST00000475668.2	+	26	3012		c.e26-1		MGAM_ENST00000549489.2_Splice_Site			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTACTTTTCAGGCATCCAAT	0.398													3	173					0	0	0	0	G	141752582	A	G	141752582	5	3	58	1	0	0	0	0	0	0	1	0	9610	202	7	5	3055	5	MGAM	7	141752582	Splice_Site	SNP	A	TCGA-CN-4723-01A-01D-1434-08	2180525	141752582	17386081	436	11028											
FAM115A	9747	broad.mit.edu	37	chr7	143573509	143573509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttccaccaagtagtcctCatgggacacgaccaccaggc	10	6	10	15	1	1	0	1	0	0	0	3	2	3	1	5	3	0	2	5	3	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:143573509C>T	ENST00000479870.1	-	2	401	c.193G>A	c.(193-195)Gag>Aag	p.E65K	FAM115A_ENST00000355951.2_Missense_Mutation_p.E65K|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	65										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					AAGTAGTCCTCATGGGACACG	0.587													16	58					0	0	0	0	T	143573509	C	T	143573509	3	4	58	1	0	0	0	0	1	0	0	0	5446	835	29	2	2604	2	FAM115A	7	143573509	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1820927	143573509	15565154	437	11029											
TPK1	27010	broad.mit.edu	37	chr7	144288620	144288620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagatgccataatctggtCaaaacgcccagcaaggcctc	13	6	8	14	1	2	1	1	0	1	1	3	1	2	1	3	2	3	1	3	2	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:144288620C>T	ENST00000549981.1	-	9	769	c.46G>A	c.(46-48)Gac>Aac	p.D16N	TPK1_ENST00000378099.3_Intron|TPK1_ENST00000360057.3_Missense_Mutation_p.D133N|TPK1_ENST00000538212.2_Intron|TPK1_ENST00000547966.1_5'UTR			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	133					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATAATCTGGTCAAAACGCCCA	0.428													35	118					0	0	0	0	T	144288620	C	T	144288620	3	4	58	1	0	0	0	0	1	0	0	0	16499	826	29	2	346	2	TPK1	7	144288620	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	715111	144288620	14850043	438	11030											
ZNF282	8427	broad.mit.edu	37	chr7	148895519	148895519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccccgaccgcatgatgcGagagccccagttgcccacag	8	6	10	17	3	0	2	0	1	0	1	1	4	1	2	6	0	3	2	6	0	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:148895519G>A	ENST00000262085.3	+	2	365	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	ZNF282_ENST00000479907.1_Missense_Mutation_p.R87Q	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	87					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CGCATGATGCGAGAGCCCCAG	0.602													24	84					0	0	0	0	A	148895519	G	A	148895519	3	1	58	1	0	0	0	0	1	0	0	0	17914	1058	37	1	266	1	ZNF282	7	148895519	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4606899	148895519	10243144	439	11031											
ZNF777	27153	broad.mit.edu	37	chr7	149152780	149152780	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaagggagacttcttgttCagcagcagctgggggtggat	9	9	17	6	0	2	2	1	0	1	2	2	5	2	3	0	4	3	4	0	4	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:149152780C>G	ENST00000247930.4	-	2	657	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ACTTCTTGTTCAGCAGCAGCT	0.612													8	225					0	0	0	0	G	149152780	C	G	149152780	3	3	58	1	0	0	0	0	1	0	0	0	18243	835	29	2	2181	2	ZNF777	7	149152780	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	257261	149152780	9985883	440	11032											
ZNF746	155061	broad.mit.edu	37	chr7	149171704	149171704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagcttttgccgcagacgGtgcaggtgaagggccgcacg	8	7	16	10	4	0	3	0	2	0	1	0	3	0	3	2	3	3	4	2	3	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:149171704G>A	ENST00000340622.3	-	7	1986	c.1706C>T	c.(1705-1707)aCc>aTc	p.T569I	ZNF746_ENST00000458143.2_Missense_Mutation_p.T570I			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	569					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCCGCAGACGGTGCAGGTGAA	0.672													5	20					0	0	0	0	A	149171704	G	A	149171704	3	1	58	1	0	0	0	0	1	0	0	0	18223	1261	44	4	232	4	ZNF746	7	149171704	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	18924	149171704	9966959	441	11033											
GBX1	2636	broad.mit.edu	37	chr7	150845891	150845891	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgagggcgtgggcgatctGagagcgctctgtcaagctca	7	9	15	10	3	4	2	2	2	2	1	4	4	4	2	0	2	2	2	0	2	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:150845891G>C	ENST00000297537.4	-	2	876	c.877C>G	c.(877-879)Cag>Gag	p.Q293E		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	293						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGCGATCTGAGAGCGCTCT	0.532													38	91					0	0	0	0	C	150845891	G	C	150845891	3	2	58	1	0	0	0	0	1	0	0	0	6329	1299	45	2	217	2	GBX1	7	150845891	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1674187	150845891	8292772	442	11034											
ABCF2	10061	broad.mit.edu	37	chr7	150916225	150916225	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagctctagccgcgtcttCacgtactgatcataattacc	9	12	6	14	3	4	1	2	1	2	0	5	1	5	1	3	0	4	2	3	0	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:150916225C>T	ENST00000287844.2	-	8	1051	c.942G>A	c.(940-942)gtG>gtA	p.V314V	ABCF2_ENST00000222388.2_Silent_p.V314V|ABCF2_ENST00000473874.1_5'UTR	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	314	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCGCGTCTTCACGTACTGAT	0.502													71	201					0	0	0	0	T	150916225	C	T	150916225	2	4	58	1	0	0	0	0	0	0	0	1	66	813	29	2		2	ABCF2	7	150916225	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	70334	150916225	8222438	443	11035											
NOM1	64434	broad.mit.edu	37	chr7	156746954	156746954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactgatgatggagcatgttCtcttagtcagcatccttcac	9	13	9	10	0	3	2	2	2	1	0	5	4	4	3	1	1	2	3	1	1	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:156746954C>T	ENST00000275820.3	+	3	1285	c.1270C>T	c.(1270-1272)Ctc>Ttc	p.L424F	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	424	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGAGCATGTTCTCTTAGTCAG	0.502													13	61					0	0	0	0	T	156746954	C	T	156746954	3	4	58	1	0	0	0	0	1	0	0	0	10600	913	32	2	1280	2	NOM1	7	156746954	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5830729	156746954	2391709	444	11036											
MNX1	3110	broad.mit.edu	37	chr7	156802973	156802973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaaggccagcggcgcgctCtgcgcagaggcggctcgtgg	6	4	17	14	6	1	1	0	0	1	1	2	1	1	1	2	5	2	3	2	5	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:156802973C>G	ENST00000252971.6	-	1	372	c.72G>C	c.(70-72)caG>caC	p.Q24H		NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	24				DALLAVDPPRAASAQSAPLALVTSLAAA -> EPCWRWTPH EPPLAERALAKVTSPPVP (in Ref. 1; AAB60647).	humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGGCGCGCTCTGCGCAGAGG	0.726													3	13					0	0	0	0	G	156802973	C	G	156802973	3	3	58	1	0	0	0	0	1	0	0	0	9749	912	32	2	1204	2	MNX1	7	156802973	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	56019	156802973	2335690	445	11037											
UBE3C	9690	broad.mit.edu	37	chr7	156931979	156931979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgccaggatgttcagcttcGaaggcgacttcaagacgcgg	9	8	13	11	4	2	1	2	0	0	1	3	4	2	2	1	3	2	2	1	3	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:156931979G>A	ENST00000348165.5	+	1	373	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	UBE3C_ENST00000389103.4_Missense_Mutation_p.E5K	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	5	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTTCAGCTTCGAAGGCGACTT	0.766													4	23					0	0	0	0	A	156931979	G	A	156931979	3	1	58	1	0	0	0	0	1	0	0	0	16977	1059	37	1	15	1	UBE3C	7	156931979	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	129006	156931979	2206684	446	11038											
CSMD1	64478	broad.mit.edu	37	chr8	3226815	3226815	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatggtccacgtgcagtttaGagagtttggataaaaatctg	13	12	11	5	1	1	1	0	0	1	1	2	3	2	2	1	2	1	3	1	2	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:3226815G>C	ENST00000602557.1	-	20	3418	c.2863C>G	c.(2863-2865)Cta>Gta	p.L955V	CSMD1_ENST00000539096.1_Missense_Mutation_p.L954V|CSMD1_ENST00000542608.1_Missense_Mutation_p.L954V|CSMD1_ENST00000400186.3_Missense_Mutation_p.L955V|CSMD1_ENST00000602723.1_Missense_Mutation_p.L955V|CSMD1_ENST00000537824.1_Missense_Mutation_p.L954V|CSMD1_ENST00000520002.1_Missense_Mutation_p.L955V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	955	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGCAGTTTAGAGAGTTTGGA	0.398													5	32					0	0	0	0	C	3226815	G	C	3226815	3	2	58	1	0	0	0	0	1	0	0	0	3976	933	33	2	8042	2	CSMD1	8	3226815	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08		3226815	143137207	447	11039											
CLDN23	137075	broad.mit.edu	37	chr8	8560295	8560295	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctggcctcctcggcctCatcccggtgtcctggtacaa	4	10	11	16	3	1	0	1	0	0	0	6	0	4	0	5	4	1	2	5	4	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:8560295C>A	ENST00000519106.1	+	1	848	c.387C>A	c.(385-387)ctC>ctA	p.L129L		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	129					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		TCCTCGGCCTCATCCCGGTGT	0.701													12	18					4.3838e-07	4.52344e-07	1	0	A	8560295	C	A	8560295	2	1	58	1	0	0	0	0	0	0	0	1	3514	813	29	2		2	CLDN23	8	8560295	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5333480	8560295	137803727	448	11040											
RP1L1	94137	broad.mit.edu	37	chr8	10468185	10468185	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtaccgaggggagtctttGaacctcactttgctggcagg	7	11	14	9	1	2	1	1	1	1	0	2	3	2	2	2	5	3	3	2	5	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:10468185G>C	ENST00000382483.3	-	4	3646	c.3423C>G	c.(3421-3423)ttC>ttG	p.F1141L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1141					intracellular signal transduction					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)		GGGAGTCTTTGAACCTCACTT	0.592													20	85					0	0	0	0	C	10468185	G	C	10468185	3	2	58	1	0	0	0	0	1	0	0	0	13618	1281	45	2	3783	2	RP1L1	8	10468185	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1907890	10468185	135895837	449	11041											
DLC1	10395	broad.mit.edu	37	chr8	13356866	13356866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttcatctttaggggggtCaggtttccttcgttgctgag	5	17	12	7	1	3	1	2	1	1	0	5	1	4	1	1	4	1	3	1	4	1	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:13356866C>T	ENST00000276297.4	-	2	1124	c.715G>A	c.(715-717)Gac>Aac	p.D239N	DLC1_ENST00000511869.1_Missense_Mutation_p.D239N|DLC1_ENST00000316609.5_Missense_Mutation_p.D239N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	239					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTAGGGGGGTCAGGTTTCCTT	0.398													84	283					0	0	0	0	T	13356866	C	T	13356866	3	4	58	1	0	0	0	0	1	0	0	0	4587	826	29	2	4024	2	DLC1	8	13356866	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2888681	13356866	133007156	450	11042											
FGF20	26281	broad.mit.edu	37	chr8	16850803	16850803	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaaactgctccctaaaGatgcattcggaagtaagttt	12	13	7	9	1	2	1	1	0	1	1	4	2	3	2	1	1	3	4	1	1	5	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:16850803G>T	ENST00000180166.5	-	3	562	c.414C>A	c.(412-414)atC>atA	p.I138I		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	138					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTCCCTAAAGATGCATTCGG	0.333													45	215					2.77807e-22	2.966e-22	1	0	T	16850803	G	T	16850803	2	4	58	1	0	0	0	0	0	0	0	1	5894	932	33	2		2	FGF20	8	16850803	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3493937	16850803	129513219	451	11043											
NPM2	10361	broad.mit.edu	37	chr8	21891774	21891774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtgccccagaagcaggcGagcgtggctaaggtggggga	8	5	19	9	2	0	1	0	0	0	1	0	3	0	2	2	6	3	2	2	6	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:21891774G>A	ENST00000397940.1	+	6	1534	c.519G>A	c.(517-519)gcG>gcA	p.A173A	NPM2_ENST00000289820.6_Silent_p.A173A|NPM2_ENST00000381530.5_Intron|NPM2_ENST00000521157.1_Silent_p.A173A|NPM2_ENST00000518119.1_Silent_p.A173A			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	173					chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AGAAGCAGGCGAGCGTGGCTA	0.567													5	66					0	0	0	0	A	21891774	G	A	21891774	2	1	58	1	0	0	0	0	0	0	0	1	10659	1045	37	1		1	NPM2	8	21891774	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	5040971	21891774	124472248	452	11044											
FBXO16	157574	broad.mit.edu	37	chr8	28321304	28321304	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaacaggcctgtgaggattCttcttctttgagagtctgtc	7	14	10	10	0	4	2	0	2	4	1	5	4	4	3	2	2	1	0	2	2	1	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:28321304C>G	ENST00000380254.2	-	4	315	c.167G>C	c.(166-168)aGa>aCa	p.R56T	FBXO16_ENST00000518734.1_Missense_Mutation_p.R44T|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000346498.2_Missense_Mutation_p.R44T	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	56										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TGTGAGGATTCTTCTTCTTTG	0.438													20	69					0	0	0	0	G	28321304	C	G	28321304	3	3	58	1	0	0	0	0	1	0	0	0	5774	913	32	2	735	2	FBXO16	8	28321304	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6429530	28321304	118042718	453	11045											
STAR	6770	broad.mit.edu	37	chr8	38005783	38005783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaggccttctgcatggcctCctccccctgctggagatagg	6	9	11	15	0	1	1	0	0	1	1	3	2	3	1	5	4	2	2	5	4	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:38005783C>T	ENST00000276449.4	-	3	687	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	81	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TGCATGGCCTCCTCCCCCTGC	0.567													23	39					0	0	0	0	T	38005783	C	T	38005783	3	4	58	1	0	0	0	0	1	0	0	0	15344	864	30	2	636	2	STAR	8	38005783	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	9684479	38005783	108358239	454	11046											
CHRNA6	8973	broad.mit.edu	37	chr8	42611623	42611623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattaatcgtgtaaaacatcGgcaatcttctaatgtagaaa	16	12	7	6	2	2	1	0	0	2	1	4	2	2	1	0	1	1	3	0	1	7	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:42611623G>A	ENST00000276410.2	-	5	1074	c.719C>T	c.(718-720)cCg>cTg	p.P240L	CHRNA6_ENST00000534622.1_Missense_Mutation_p.P225L	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	240						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTAAAACATCGGCAATCTTCT	0.368													28	56					0	0	0	0	A	42611623	G	A	42611623	3	1	58	1	0	0	0	0	1	0	0	0	3416	1116	39	1	773	1	CHRNA6	8	42611623	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4605840	42611623	103752399	455	11047											
POTEA	340441	broad.mit.edu	37	chr8	43173738	43173738	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaaaatcagcaatttcCtaacacagagattgaagagt	17	9	8	7	0	1	4	1	2	0	2	2	5	2	4	1	0	2	2	1	0	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:43173738C>T	ENST00000522175.2	+	0	1024							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGCAATTTCCTAACACAGAG	0.393													18	72					0	0	0	0	T	43173738	C	T	43173738	1	4	58	0	1	0	0	0	0	0	0	0	12333	681	24	4		4	POTEA	8	43173738	RNA	SNP	C	TCGA-CN-4723-01A-01D-1434-08	562115	43173738	103190284	456	11048											
PRKDC	5591	broad.mit.edu	37	chr8	48776002	48776002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catttccttctgtaatacacGagccatggaaaacttgatta	13	13	6	9	1	1	1	0	1	1	0	2	3	2	2	2	1	3	1	2	1	5	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:48776002G>A	ENST00000314191.2	-	43	5761	c.5705C>T	c.(5704-5706)tCg>tTg	p.S1902L	PRKDC_ENST00000338368.3_Missense_Mutation_p.S1902L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1903					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTAATACACGAGCCATGGAA	0.313								Non-homologous end-joining					44	170					0	0	0	0	A	48776002	G	A	48776002	3	1	58	1	0	0	0	0	1	0	0	0	12601	1059	37	1	6858	1	PRKDC	8	48776002	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	5602264	48776002	97588020	457	11049											
RP1	6101	broad.mit.edu	37	chr8	55538105	55538105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgttatagaaattacaagtCagaagatgttagagatgtca	16	12	10	3	0	2	4	2	0	0	4	2	5	2	4	0	0	1	2	0	0	7	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:55538105C>G	ENST00000220676.1	+	4	1811	c.1663C>G	c.(1663-1665)Cag>Gag	p.Q555E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	555					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATTACAAGTCAGAAGATGTT	0.338													20	103					0	0	0	0	G	55538105	C	G	55538105	3	3	58	1	0	0	0	0	1	0	0	0	13617	827	29	2	1673	2	RP1	8	55538105	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6762103	55538105	90825917	458	11050											
XKR4	114786	broad.mit.edu	37	chr8	56015534	56015534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctgtcggtgcaagtgttCagcttccgctggtttgtgca	4	15	12	10	2	2	0	1	0	1	0	5	0	3	0	1	2	3	6	1	2	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:56015534C>T	ENST00000327381.5	+	1	586	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	162						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGCAAGTGTTCAGCTTCCGCT	0.652													24	63					0	0	0	0	T	56015534	C	T	56015534	2	4	58	1	0	0	0	0	0	0	0	1	17529	825	29	2		2	XKR4	8	56015534	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	477429	56015534	90348488	459	11051											
VCPIP1	80124	broad.mit.edu	37	chr8	67547415	67547415	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagcccatgtgagggacttGattccctacttcttgtagta	9	14	9	9	0	1	2	0	2	1	0	2	3	2	3	2	1	2	2	2	1	4	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:67547415G>C	ENST00000310421.4	-	3	3248	c.2990C>G	c.(2989-2991)tCa>tGa	p.S997*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	997					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGAGGGACTTGATTCCCTACT	0.438													76	280					0	0	0	0	C	67547415	G	C	67547415	4	2	58	1	0	0	0	0	0	1	0	0	17237	1294	45	2	682	2	VCPIP1	8	67547415	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	11531881	67547415	78816607	460	11052											
SULF1	23213	broad.mit.edu	37	chr8	70550802	70550802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtttgcgtacagttaatGagacgcataattttcttttc	9	17	9	6	2	1	1	0	1	1	1	2	2	1	1	0	1	2	4	0	1	3	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:70550802G>A	ENST00000260128.4	+	20	3067	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K	SULF1_ENST00000458141.2_Missense_Mutation_p.E784K|SULF1_ENST00000402687.4_Missense_Mutation_p.E784K|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.E784K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	784					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TACAGTTAATGAGACGCATAA	0.343													40	171					0	0	0	0	A	70550802	G	A	70550802	3	1	58	1	0	0	0	0	1	0	0	0	15460	1291	45	2	2412	2	SULF1	8	70550802	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3003387	70550802	75813220	461	11053											
TRPA1	8989	broad.mit.edu	37	chr8	72942205	72942205	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgccaactgccaaaccaatCtgaagtatgacacaaaatta	17	8	5	11	1	1	2	0	2	1	0	2	2	1	2	3	0	3	1	3	0	8	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:72942205C>G	ENST00000262209.4	-	24	3076		c.e24-1		RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1							integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CCAAACCAATCTGAAGTATGA	0.413													22	75					0	0	0	0	G	72942205	C	G	72942205	5	3	58	1	0	0	0	0	0	0	1	0	16672	927	32	2	507	2	TRPA1	8	72942205	Splice_Site	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2391403	72942205	73421817	462	11054											
TRPA1	8989	broad.mit.edu	37	chr8	72981315	72981315	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagaggagccatcatgttGaagtttcggagatttgggtt	9	13	15	4	1	1	3	1	1	0	2	2	6	1	4	1	4	1	3	1	4	1	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:72981315G>A	ENST00000262209.4	-	3	594	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	129						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CCATCATGTTGAAGTTTCGGA	0.478													22	434					0	0	0	0	A	72981315	G	A	72981315	2	1	58	1	0	0	0	0	0	0	0	1	16672	1281	45	2		2	TRPA1	8	72981315	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	39110	72981315	73382707	463	11055											
ATP6V0D2	245972	broad.mit.edu	37	chr8	87151798	87151798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgggccgtttcacagaaatgGaagctgtcaacattgcagag	12	9	12	8	1	2	2	2	0	0	2	2	3	2	3	1	2	3	3	1	2	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:87151798G>C	ENST00000285393.3	+	3	557	c.415G>C	c.(415-417)Gaa>Caa	p.E139Q	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	139					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CACAGAAATGGAAGCTGTCAA	0.428													38	226					0	0	0	0	C	87151798	G	C	87151798	3	2	58	1	0	0	0	0	1	0	0	0	1178	1175	41	2	425	2	ATP6V0D2	8	87151798	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	14170483	87151798	59212224	464	11056											
SLC7A13	157724	broad.mit.edu	37	chr8	87242048	87242048	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagccaagtcacttctttCacaccacgagaagtcagaat	14	9	7	11	1	4	3	3	1	1	2	4	4	4	3	2	0	1	0	2	0	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:87242048C>G	ENST00000297524.3	-	1	562	c.459G>C	c.(457-459)gtG>gtC	p.V153V	SLC7A13_ENST00000419776.2_Silent_p.V153V|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	153						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TCACTTCTTTCACACCACGAG	0.453													28	114					0	0	0	0	G	87242048	C	G	87242048	2	3	58	1	0	0	0	0	0	0	0	1	14783	813	29	2		2	SLC7A13	8	87242048	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	90250	87242048	59121974	465	11057											
CNGB3	54714	broad.mit.edu	37	chr8	87616352	87616352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacaccgacccagctttcaGagtaaccagaactttagtac	15	8	6	12	1	1	2	1	0	0	2	1	3	1	2	3	0	5	3	3	0	5	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:87616352G>C	ENST00000320005.5	-	15	1797	c.1750C>G	c.(1750-1752)Ctg>Gtg	p.L584V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	584					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCAGCTTTCAGAGTAACCAGA	0.368													24	101					0	0	0	0	C	87616352	G	C	87616352	3	2	58	1	0	0	0	0	1	0	0	0	3631	933	33	2	695	2	CNGB3	8	87616352	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	374304	87616352	58747670	466	11058											
OSGIN2	734	broad.mit.edu	37	chr8	90926409	90926409	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatcttaaatagtaaattaGaagaagcaagacatctttcc	18	11	5	7	0	2	3	0	0	2	3	3	3	3	3	1	0	1	2	1	0	10	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:90926409G>C	ENST00000451899.2	+	3	564	c.304G>C	c.(304-306)Gaa>Caa	p.E102Q	OSGIN2_ENST00000520659.1_Missense_Mutation_p.E102Q|OSGIN2_ENST00000297438.2_Missense_Mutation_p.E58Q	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	58					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TAGTAAATTAGAAGAAGCAAG	0.289													38	157					0	0	0	0	C	90926409	G	C	90926409	3	2	58	1	0	0	0	0	1	0	0	0	11361	943	33	2	314	2	OSGIN2	8	90926409	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3310057	90926409	55437613	467	11059											
NBN	4683	broad.mit.edu	37	chr8	90965508	90965508	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggtactgcttcatcactGaaagtgtcatttgtttctat	8	18	7	8	0	5	1	3	1	2	0	5	1	5	1	0	1	2	3	0	1	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:90965508G>A	ENST00000265433.3	-	11	1963	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	NBN_ENST00000409330.1_Silent_p.F521F	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	603					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTTCATCACTGAAAGTGTCAT	0.343								Homologous recombination					67	262					0	0	0	0	A	90965508	G	A	90965508	2	1	58	1	0	0	0	0	0	0	0	1	10261	1281	45	2		2	NBN	8	90965508	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	39099	90965508	55398514	468	11060											
TMEM55A	55529	broad.mit.edu	37	chr8	92032432	92032432	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagatgtgtccttacaaatGagaagacaattacaagggca	16	8	10	7	1	0	3	0	1	0	3	1	5	1	3	1	1	2	1	1	1	6	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:92032432G>A	ENST00000285419.3	-	3	629	c.315C>T	c.(313-315)ctC>ctT	p.L105L		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	105						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			CCTTACAAATGAGAAGACAAT	0.378													30	151					0	0	0	0	A	92032432	G	A	92032432	2	1	58	1	0	0	0	0	0	0	0	1	16275	1277	45	2		2	TMEM55A	8	92032432	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1066924	92032432	54331590	469	11061											
TMEM67	91147	broad.mit.edu	37	chr8	94767324	94767324	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctttgatatctccgccctctCgtgtgttccttgtggagcta	4	16	9	12	2	2	1	0	1	2	0	5	2	3	2	3	1	1	2	3	1	2	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:94767324C>G	ENST00000453321.3	+	1	240	c.182C>G	c.(181-183)tCg>tGg	p.S61W	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	61					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TCCGCCCTCTCGTGTGTTCCT	0.562													57	263					0	0	0	0	G	94767324	C	G	94767324	3	3	58	1	0	0	0	0	1	0	0	0	16290	893	31	3	184	3	TMEM67	8	94767324	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2734892	94767324	51596698	470	11062											
ESRP1	54845	broad.mit.edu	37	chr8	95683700	95683700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgctgaatcgattctcctCggcccctctcattccacttc	5	13	7	16	2	2	1	1	1	2	0	8	2	3	1	4	2	1	1	4	2	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:95683700C>T	ENST00000433389.2	+	11	1443	c.1253C>T	c.(1252-1254)tCg>tTg	p.S418L	ESRP1_ENST00000423620.2_Missense_Mutation_p.S418L|ESRP1_ENST00000454170.2_Missense_Mutation_p.S418L|ESRP1_ENST00000358397.5_Missense_Mutation_p.S418L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	418					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CGATTCTCCTCGGCCCCTCTC	0.483													30	73					0	0	0	0	T	95683700	C	T	95683700	3	4	58	1	0	0	0	0	1	0	0	0	5296	893	31	1	1295	1	ESRP1	8	95683700	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	916376	95683700	50680322	471	11063											
PTDSS1	9791	broad.mit.edu	37	chr8	97316403	97316403	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtaccttttcatgatcatCtggcaggtattttttcagat	8	18	8	7	0	4	2	3	1	1	1	4	2	4	2	1	2	1	3	1	2	2	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:97316403C>G	ENST00000517309.1	+	7	1214	c.888C>G	c.(886-888)atC>atG	p.I296M	PTDSS1_ENST00000455950.2_Missense_Mutation_p.I150M|PTDSS1_ENST00000522072.1_Missense_Mutation_p.I93M	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	296					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCATGATCATCTGGCAGGTAT	0.378													4	388					0	0	0	0	G	97316403	C	G	97316403	3	3	58	1	0	0	0	0	1	0	0	0	12815	903	32	2	914	2	PTDSS1	8	97316403	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1632703	97316403	49047619	472	11064											
VPS13B	157680	broad.mit.edu	37	chr8	100654191	100654191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcacagtggtgccagtcaGcatcgcattgcccgtccctc	7	8	10	16	2	1	0	1	0	0	0	4	0	2	0	3	1	4	3	3	1	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:100654191G>T	ENST00000358544.2	+	34	5559	c.5448G>T	c.(5446-5448)caG>caT	p.Q1816H	VPS13B_ENST00000357162.2_Missense_Mutation_p.Q1791H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1816					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTGCCAGTCAGCATCGCATTG	0.413													25	152					1.68575e-08	1.74824e-08	1	0	T	100654191	G	T	100654191	3	4	58	1	0	0	0	0	1	0	0	0	17286	962	34	4	5772	4	VPS13B	8	100654191	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3337788	100654191	45709831	473	11065											
UBR5	51366	broad.mit.edu	37	chr8	103289202	103289202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggtcttagcaaatacctGaaagatgtgagaggtggccc	13	8	13	7	0	1	3	0	2	1	2	1	4	1	3	2	3	2	1	2	3	5	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:103289202G>A	ENST00000520539.1	-	45	7113	c.6507C>T	c.(6505-6507)ttC>ttT	p.F2169F	UBR5_ENST00000220959.4_Silent_p.F2169F|UBR5_ENST00000521922.1_Silent_p.F2163F	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2169					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCAAATACCTGAAAGATGTGA	0.383													36	129					0	0	0	0	A	103289202	G	A	103289202	2	1	58	1	0	0	0	0	0	0	0	1	17001	1281	45	2		2	UBR5	8	103289202	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2635011	103289202	43074820	474	11066											
UBR5	51366	broad.mit.edu	37	chr8	103323529	103323529	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcaatactcaaattacctCtacagccatgatgataacag	15	12	4	10	0	3	2	2	2	1	0	3	2	3	2	2	0	5	0	2	0	6	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:103323529C>G	ENST00000520539.1	-	20	3220	c.2614G>C	c.(2614-2616)Gag>Cag	p.E872Q	UBR5_ENST00000220959.4_Missense_Mutation_p.E872Q|UBR5_ENST00000521922.1_Missense_Mutation_p.E866Q	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	872					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAAATTACCTCTACAGCCATG	0.333													36	154					0	0	0	0	G	103323529	C	G	103323529	3	3	58	1	0	0	0	0	1	0	0	0	17001	922	32	2	5945	2	UBR5	8	103323529	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	34327	103323529	43040493	475	11067											
PKHD1L1	93035	broad.mit.edu	37	chr8	110397821	110397821	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtctatggaagtaatatTgcactaagctcaaatgggaa	15	11	10	5	0	2	0	1	0	1	0	2	3	2	2	0	2	2	3	0	2	7	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:110397821T>A	ENST00000378402.5	+	6	635	c.531T>A	c.(529-531)atT>atA	p.I177I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	177	IPT/TIG 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAGTAATATTGCACTAAGCT	0.294										HNSCC(38;0.096)			12	81					0	0	0	0	A	110397821	T	A	110397821	2	1	58	1	0	0	0	0	0	0	0	1	12044	1800	63	5		5	PKHD1L1	8	110397821	Silent	SNP	T	TCGA-CN-4723-01A-01D-1434-08	7074292	110397821	35966201	476	11068											
PKHD1L1	93035	broad.mit.edu	37	chr8	110476619	110476619	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagaggaatattatatatGatattaagggaggagcattt	15	14	11	1	0	0	2	0	2	0	1	0	6	0	5	0	3	1	1	0	3	7	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:110476619G>C	ENST00000378402.5	+	49	7662	c.7558G>C	c.(7558-7560)Gat>Cat	p.D2520H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2520					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATTATATATGATATTAAGGG	0.363										HNSCC(38;0.096)			20	53					0	0	0	0	C	110476619	G	C	110476619	3	2	58	1	0	0	0	0	1	0	0	0	12044	1290	45	2	7752	2	PKHD1L1	8	110476619	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	78798	110476619	35887403	477	11069											
CSMD3	114788	broad.mit.edu	37	chr8	113301749	113301749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattaggaggaacgccaGggtgtccacagtcaatcact	11	8	11	11	1	2	0	2	0	0	0	3	2	3	2	2	3	2	1	2	3	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:113301749G>A	ENST00000297405.5	-	57	9237	c.8993C>T	c.(8992-8994)cCt>cTt	p.P2998L	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2829L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2928L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2958L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2998	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGAACGCCAGGGTGTCCACA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	47					0	0	0	0	A	113301749	G	A	113301749	3	1	58	1	0	0	0	0	1	0	0	0	3978	1000	35	4	2190	4	CSMD3	8	113301749	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2825130	113301749	33062273	478	11070											
CSMD3	114788	broad.mit.edu	37	chr8	113421233	113421233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaacatcgtggagtgatgtCtggaaaaatacaaactggcc	15	8	10	8	1	1	1	0	1	1	0	2	3	1	3	1	3	3	0	1	3	5	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:113421233C>T	ENST00000297405.5	-	33	5668	c.5424G>A	c.(5422-5424)caG>caA	p.Q1808Q	CSMD3_ENST00000455883.2_Silent_p.Q1704Q|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Silent_p.Q1768Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1808	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGAGTGATGTCTGGAAAAATA	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			70	180					0	0	0	0	T	113421233	C	T	113421233	2	4	58	1	0	0	0	0	0	0	0	1	3978	912	32	2		2	CSMD3	8	113421233	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	119484	113421233	32942789	479	11071											
CSMD3	114788	broad.mit.edu	37	chr8	114290824	114290824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactaccatcacttaccttCgtaatataccttaaatccat	13	13	1	14	1	1	0	1	0	0	0	3	0	2	0	5	0	3	1	5	0	7	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:114290824C>T	ENST00000297405.5	-	3	755	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E171K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E171K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E131K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	171	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACTTACCTTCGTAATATACC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	95					0	0	0	0	T	114290824	C	T	114290824	3	4	58	1	0	0	0	0	1	0	0	0	3978	893	31	1	10888	1	CSMD3	8	114290824	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	869591	114290824	32073198	480	11072											
SLC30A8	169026	broad.mit.edu	37	chr8	118184876	118184876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagatggaatctccagttGaccaggaccccgactgcctt	9	10	9	13	1	2	2	1	1	1	1	3	5	2	4	5	2	1	1	5	2	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:118184876G>C	ENST00000427715.2	+	11	1353	c.919G>C	c.(919-921)Gac>Cac	p.D307H	SLC30A8_ENST00000519688.1_Missense_Mutation_p.D307H|SLC30A8_ENST00000456015.2_Missense_Mutation_p.D356H|SLC30A8_ENST00000521243.1_Missense_Mutation_p.D307H	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	356					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ATCTCCAGTTGACCAGGACCC	0.507													37	232					0	0	0	0	C	118184876	G	C	118184876	3	2	58	1	0	0	0	0	1	0	0	0	14649	1290	45	2	1096	2	SLC30A8	8	118184876	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3894052	118184876	28179146	481	11073											
WDYHV1	55093	broad.mit.edu	37	chr8	124449572	124449572	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atatccctgcattgagactgGaggtgagccaagatgccttc	10	10	11	10	0	0	3	0	2	0	2	2	5	1	4	3	2	3	1	3	2	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:124449572G>C	ENST00000523984.1	+	5	554	c.326G>C	c.(325-327)gGa>gCa	p.G109A	WDYHV1_ENST00000518125.1_Missense_Mutation_p.G21A|WDYHV1_ENST00000523356.1_Missense_Mutation_p.G169A|WDYHV1_ENST00000287387.2_Missense_Mutation_p.G169A|WDYHV1_ENST00000517609.1_3'UTR			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	169					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						ATTGAGACTGGAGGTGAGCCA	0.458													7	69					0	0	0	0	C	124449572	G	C	124449572	3	2	58	1	0	0	0	0	1	0	0	0	17439	1174	41	2	524	2	WDYHV1	8	124449572	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	6264696	124449572	21914450	482	11074											
FER1L6	654463	broad.mit.edu	37	chr8	125022951	125022951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggagaaaatggcagacttCctggtaggtgactctgacag	11	9	13	8	0	1	4	0	2	1	2	2	5	2	4	1	4	0	2	1	4	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:125022951C>A	ENST00000522917.1	+	14	2024	c.1818C>A	c.(1816-1818)ttC>ttA	p.F606L	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.F606L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	606						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGGCAGACTTCCTGGTAGGTG	0.488													9	407					0.000442599	0.000452901	1	0	A	125022951	C	A	125022951	3	1	58	1	0	0	0	0	1	0	0	0	5860	854	30	2	1868	2	FER1L6	8	125022951	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	573379	125022951	21341071	483	11075											
FER1L6	654463	broad.mit.edu	37	chr8	125103812	125103812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaaaaactatcttcactGaagaggacactggtaactcc	14	9	8	10	0	2	2	1	1	1	1	3	4	3	4	1	3	2	1	1	3	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:125103812G>A	ENST00000522917.1	+	34	4746	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1514K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1514						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TATCTTCACTGAAGAGGACAC	0.408													34	157					0	0	0	0	A	125103812	G	A	125103812	3	1	58	1	0	0	0	0	1	0	0	0	5860	1291	45	2	4670	2	FER1L6	8	125103812	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	80861	125103812	21260210	484	11076											
FER1L6	654463	broad.mit.edu	37	chr8	125131944	125131944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtacatcatcattgctttCattctcatcatcctcatcat	11	16	2	12	0	7	0	7	0	1	0	9	0	8	0	1	0	2	2	1	0	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:125131944C>G	ENST00000522917.1	+	41	5693	c.5487C>G	c.(5485-5487)ttC>ttG	p.F1829L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.F1829L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1829						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			tcattgctttcattctcatca	0.478													62	270					0	0	0	0	G	125131944	C	G	125131944	3	3	58	1	0	0	0	0	1	0	0	0	5860	825	29	2	5645	2	FER1L6	8	125131944	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	28132	125131944	21232078	485	11077											
FAM135B	51059	broad.mit.edu	37	chr8	139190891	139190891	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggacgtgagccaggccagatCcttgcttatctgctcagcga	8	9	12	12	2	2	2	1	1	1	1	3	4	3	3	3	2	4	2	3	2	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:139190891C>G	ENST00000395297.1	-	10	1086	c.916G>C	c.(916-918)Gat>Cat	p.D306H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	306								p.D306N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGCCAGATCCTTGCTTATC	0.512										HNSCC(54;0.14)			21	72					0	0	0	0	G	139190891	C	G	139190891	3	3	58	1	0	0	0	0	1	0	0	0	5490	855	30	2	3348	2	FAM135B	8	139190891	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	14058947	139190891	7173131	486	11078											
PTK2	5747	broad.mit.edu	37	chr8	141828403	141828403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccttgtccgttaggtaactGattccttcttctgggccgat	5	15	9	12	2	2	1	0	1	2	0	4	2	4	1	4	2	1	2	4	2	2	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:141828403G>C	ENST00000522684.1	-	10	1069	c.840C>G	c.(838-840)atC>atG	p.I280M	PTK2_ENST00000521059.1_Missense_Mutation_p.I280M|PTK2_ENST00000340930.3_Missense_Mutation_p.I280M|PTK2_ENST00000519419.1_Missense_Mutation_p.I324M|PTK2_ENST00000535192.1_Missense_Mutation_p.I280M|PTK2_ENST00000395218.2_Missense_Mutation_p.I280M|PTK2_ENST00000517887.1_Missense_Mutation_p.I324M	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	280	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTAGGTAACTGATTCCTTCTT	0.438													43	120					0	0	0	0	C	141828403	G	C	141828403	3	2	58	1	0	0	0	0	1	0	0	0	12842	1280	45	2	2410	2	PTK2	8	141828403	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2637512	141828403	4535619	487	11079											
ARC	23237	broad.mit.edu	37	chr8	143695306	143695306	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacacgtgcatctcgcgcttGacccagcgctccaggttggc	6	8	11	16	4	1	1	0	1	1	0	3	1	2	1	2	2	2	4	2	2	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:143695306G>C	ENST00000356613.2	-	1	1527	c.327C>G	c.(325-327)gtC>gtG	p.V109V		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	109					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TCTCGCGCTTGACCCAGCGCT	0.682													6	38					0	0	0	0	C	143695306	G	C	143695306	2	2	58	1	0	0	0	0	0	0	0	1	843	1277	45	2		2	ARC	8	143695306	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1866903	143695306	2668716	488	11080											
PUF60	22827	broad.mit.edu	37	chr8	144899226	144899226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccttcttgggctccaggaGacccagcgttggagggctgg	5	9	15	12	1	1	1	0	0	1	1	3	3	3	2	3	5	1	3	3	5	0	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:144899226G>C	ENST00000526683.1	-	11	1789	c.1234C>G	c.(1234-1236)Ctc>Gtc	p.L412V	PUF60_ENST00000456095.2_Missense_Mutation_p.L383V|PUF60_ENST00000349157.6_Missense_Mutation_p.L395V|PUF60_ENST00000527197.1_Missense_Mutation_p.L366V|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000313352.7_Missense_Mutation_p.L352V|PUF60_ENST00000453551.2_Missense_Mutation_p.L369V	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	412	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCTCCAGGAGACCCAGCGTT	0.622													7	35					0	0	0	0	C	144899226	G	C	144899226	3	2	58	1	0	0	0	0	1	0	0	0	12906	942	33	2	453	2	PUF60	8	144899226	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1203920	144899226	1464796	489	11081											
EPPK1	83481	broad.mit.edu	37	chr8	144940991	144940991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcccgtctggtgtgtgttCtatacatcctcaccagctgg	5	13	11	12	1	3	0	1	0	2	0	4	0	4	0	3	2	3	2	3	2	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:144940991C>T	ENST00000525985.1	-	2	6502	c.6431G>A	c.(6430-6432)aGa>aAa	p.R2144K				P58107	EPIPL_HUMAN	epiplakin 1	2144						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGTGTGTTCTATACATCCT	0.507													74	387					0	0	0	0	T	144940991	C	T	144940991	3	4	58	1	0	0	0	0	1	0	0	0	5228	913	32	2	835	2	EPPK1	8	144940991	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	41765	144940991	1423031	490	11082											
EPPK1	83481	broad.mit.edu	37	chr8	144942429	144942435	+	Frame_Shift_Del	DEL	GGAAGAG	GGAAGAG	-																															gaggtccttctgcatggcctGgaagagggagatctgctgcc																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:144942429_144942435delGGAAGAG	ENST00000525985.1	-	2	5058_5064	c.4987_4993delCTCTTCC	c.(4987-4995)agfs	p.LFQ1663fs				P58107	EPIPL_HUMAN	epiplakin 1	1663						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCATGGCCTGGAAGAGGGAGATCTGC	0.647													22	161	---	---	---	---					-	144942435	GGAAGAG	-	144942429	7	5	58	1	0	1	0	1	0	0	0	0	5228	1357	47	0	2273	0	EPPK1	8	144942429	Frame_Shift_Del	DEL	GGAAGAG	TCGA-CN-4723-01A-01D-1434-08	1438	144942429	1421593	491	11083											
ZNF250	58500	broad.mit.edu	37	chr8	146107829	146107829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attacactcatagggcttctCacctgtgtgaattctcctgt	8	15	7	11	0	3	1	2	1	2	0	5	1	3	1	2	1	1	1	2	1	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:146107829C>G	ENST00000292579.7	-	6	870	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.E247Q	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TAGGGCTTCTCACCTGTGTGA	0.483													12	76					0	0	0	0	G	146107829	C	G	146107829	3	3	58	1	0	0	0	0	1	0	0	0	17890	835	29	2	932	2	ZNF250	8	146107829	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1165400	146107829	256193	492	11084											
ZNF250	58500	broad.mit.edu	37	chr8	146108151	146108151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggtgttttccccagaatCactgtttgctctgaaattaa	11	14	8	8	0	2	2	1	1	1	1	3	2	3	2	2	1	1	3	2	1	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:146108151C>T	ENST00000292579.7	-	6	548	c.432G>A	c.(430-432)gtG>gtA	p.V144V	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Silent_p.V139V	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TCCCCAGAATCACTGTTTGCT	0.398													7	417					0	0	0	0	T	146108151	C	T	146108151	2	4	58	1	0	0	0	0	0	0	0	1	17890	813	29	2		2	ZNF250	8	146108151	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	322	146108151	255871	493	11085											
DOCK8	81704	broad.mit.edu	37	chr9	376246	376246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctcccattaagtgggctGaaggacataagggagtattt	12	11	11	7	0	0	1	0	1	0	0	2	3	2	3	2	3	0	2	2	3	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:376246G>A	ENST00000432829.2	+	19	2258	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	DOCK8_ENST00000382329.1_Missense_Mutation_p.E183K|DOCK8_ENST00000382331.1_Missense_Mutation_p.E18K|DOCK8_ENST00000453981.1_Missense_Mutation_p.E716K|DOCK8_ENST00000469391.1_Missense_Mutation_p.E648K	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	716					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TAAGTGGGCTGAAGGACATAA	0.378													7	152					0	0	0	0	A	376246	G	A	376246	3	1	58	1	0	0	0	0	1	0	0	0	4729	1291	45	2	2220	2	DOCK8	9	376246	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08		376246	140837185	494	11086											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	8	6	10	17	3	2	1	2	1	0	0	4	1	3	1	3	1	4	4	3	1	0	0	rs121913387		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	6					0	0	0	0	A	21971186	G	A	21971186	4	1	58	1	0	0	0	0	0	1	0	0	3190	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	21594940	21971186	119242245	495	11087											
DDX58	23586	broad.mit.edu	37	chr9	32500912	32500912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgggcccttgttgtttttCtcagcctgaatatactgcac	7	16	8	10	0	1	1	1	1	1	0	2	1	1	1	2	1	3	3	2	1	3	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:32500912C>A	ENST00000379883.2	-	2	289	c.132G>T	c.(130-132)gaG>gaT	p.E44D	DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000379882.1_Intron|DDX58_ENST00000542096.1_5'UTR	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	44	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGTTGTTTTTCTCAGCCTGAA	0.438													8	95					0.00307968	0.00313054	1	0	A	32500912	C	A	32500912	3	1	58	1	0	0	0	0	1	0	0	0	4407	912	32	2	2713	2	DDX58	9	32500912	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	10529726	32500912	108712519	496	11088											
NFX1	4799	broad.mit.edu	37	chr9	33366762	33366762	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcgcaatgtggtggtcActgccatcaggtaggtcaat	10	9	13	9	2	3	0	3	0	0	0	3	1	3	0	1	4	2	2	1	4	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:33366762A>T	ENST00000379540.3	+	22	3237	c.3175A>T	c.(3175-3177)Act>Tct	p.T1059S	NFX1_ENST00000463421.1_3'UTR	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1059	R3H.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGTGGTGGTCACTGCCATCAG	0.527													14	20					0	0	0	0	T	33366762	A	T	33366762	3	4	58	1	0	0	0	0	1	0	0	0	10457	159	6	5	3379	5	NFX1	9	33366762	Missense_Mutation	SNP	A	TCGA-CN-4723-01A-01D-1434-08	865850	33366762	107846669	497	11089											
C9orf131	138724	broad.mit.edu	37	chr9	35043827	35043827	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgccagaactccagagaGagagttccctggaagatcca	12	6	10	13	0	0	4	0	0	0	4	3	7	3	5	5	1	2	1	5	1	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:35043827G>C	ENST00000312292.5	+	2	1248	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	C9orf131_ENST00000354479.5_Missense_Mutation_p.E328Q|C9orf131_ENST00000421362.2_Missense_Mutation_p.E353Q	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	401										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACTCCAGAGAGAGAGTTCCCT	0.532													4	153					0	0	0	0	C	35043827	G	C	35043827	3	2	58	1	0	0	0	0	1	0	0	0	2482	943	33	2	1223	2	C9orf131	9	35043827	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1677065	35043827	106169604	498	11090											
PIGO	84720	broad.mit.edu	37	chr9	35092440	35092440	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccacaggtgtcaggagtaGagggcagaatggaaagcctg	12	5	17	7	0	1	2	1	0	0	2	1	4	1	4	2	5	1	2	2	5	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:35092440G>C	ENST00000378617.3	-	7	1838	c.1444C>G	c.(1444-1446)Cta>Gta	p.L482V	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.L482V|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	482					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTCAGGAGTAGAGGGCAGAAT	0.582													3	118					0	0	0	0	C	35092440	G	C	35092440	3	2	58	1	0	0	0	0	1	0	0	0	11966	933	33	2	1845	2	PIGO	9	35092440	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	48613	35092440	106120991	499	11091											
SHB	6461	broad.mit.edu	37	chr9	37974647	37974647	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctgggatggtgacccggttCcactcccaaggctggtcgta	6	9	14	12	2	0	1	0	1	0	0	3	2	2	2	3	5	0	4	3	5	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:37974647C>G	ENST00000377707.3	-	3	1591	c.1026G>C	c.(1024-1026)tgG>tgC	p.W342C	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	342	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TGACCCGGTTCCACTCCCAAG	0.657													34	71					0	0	0	0	G	37974647	C	G	37974647	3	3	58	1	0	0	0	0	1	0	0	0	14356	856	30	2	519	2	SHB	9	37974647	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2882207	37974647	103238784	500	11092											
ANKRD20A4	728747	broad.mit.edu	37	chr9	69423576	69423576	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaaacacagtgaaagtgtGaaaacagaaagaaacctaaa	23	4	8	6	0	0	4	0	2	0	2	0	4	0	4	1	0	4	1	1	0	8	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:69423576G>C	ENST00000357336.3	+	15	2153	c.1872G>C	c.(1870-1872)gtG>gtC	p.V624V		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	624										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GTGAAAGTGTGAAAACAGAAA	0.358													25	72					0	0	0	0	C	69423576	G	C	69423576	2	2	58	1	0	0	0	0	0	0	0	1	650	1277	45	2		2	ANKRD20A4	9	69423576	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	31448929	69423576	71789855	501	11093											
PGM5	5239	broad.mit.edu	37	chr9	71094415	71094415	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcccggaagcagagtgTggaggaaattgtccgagatc	10	8	15	8	2	0	2	0	0	0	2	2	6	1	5	2	3	3	2	2	3	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:71094415T>C	ENST00000396396.1	+	8	1470	c.1241T>C	c.(1240-1242)gTg>gCg	p.V414A		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	414					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						AAGCAGAGTGTGGAGGAAATT	0.522													44	115					0	0	0	0	C	71094415	T	C	71094415	3	2	58	1	0	0	0	0	1	0	0	0	11873	1696	59	5	1271	5	PGM5	9	71094415	Missense_Mutation	SNP	T	TCGA-CN-4723-01A-01D-1434-08	1670839	71094415	70119016	502	11094											
PIP5K1B	8395	broad.mit.edu	37	chr9	71509489	71509489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttcctgcaagacatgcacGaagggttgtattttgatacg	11	13	10	7	2	0	2	0	1	0	1	1	3	1	2	1	1	3	4	1	1	4	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:71509489G>A	ENST00000265382.3	+	8	1011	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.E236K	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	236	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	p.E236K(1)		breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AGACATGCACGAAGGGTTGTA	0.423													44	135					0	0	0	0	A	71509489	G	A	71509489	3	1	58	1	0	0	0	0	1	0	0	0	12012	1059	37	1	724	1	PIP5K1B	9	71509489	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	415074	71509489	69703942	503	11095											
PRKACG	5568	broad.mit.edu	37	chr9	71628520	71628520	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttcaggtcgcggtggatGaggtcgagcgagtgtaggta	7	9	19	6	4	1	1	1	1	0	0	3	4	1	2	0	6	1	3	0	6	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:71628520G>A	ENST00000377276.2	-	1	519	c.489C>T	c.(487-489)ctC>ctT	p.L163L		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	163	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CGCGGTGGATGAGGTCGAGCG	0.627													8	23					0	0	0	0	A	71628520	G	A	71628520	2	1	58	1	0	0	0	0	0	0	0	1	12579	1277	45	2		2	PRKACG	9	71628520	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	119031	71628520	69584911	504	11096											
APBA1	320	broad.mit.edu	37	chr9	72132030	72132030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctgttcctcttccacctCggggtgctccaggtcggcct	2	12	11	16	2	1	0	0	0	1	0	6	0	4	0	5	4	2	3	5	4	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:72132030C>T	ENST00000265381.4	-	2	319	c.97G>A	c.(97-99)Gag>Aag	p.E33K		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	33					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCTTCCACCTCGGGGTGCTCC	0.701													7	3					0	0	0	0	T	72132030	C	T	72132030	3	4	58	1	0	0	0	0	1	0	0	0	757	893	31	1	2464	1	APBA1	9	72132030	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	503510	72132030	69081401	505	11097											
TMEM2	23670	broad.mit.edu	37	chr9	74365160	74365160	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaaatttggctgaagcttGactctttggaggaggagggg	9	11	17	4	0	1	2	0	2	1	0	1	5	1	5	0	7	1	3	0	7	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:74365160G>A	ENST00000377044.4	-	2	669	c.130C>T	c.(130-132)Caa>Taa	p.Q44*	TMEM2_ENST00000377066.5_Nonsense_Mutation_p.Q44*	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	44						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCTGAAGCTTGACTCTTTGGA	0.507													30	109					0	0	0	0	A	74365160	G	A	74365160	4	1	58	1	0	0	0	0	0	1	0	0	16215	1299	45	2	4113	2	TMEM2	9	74365160	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2233130	74365160	66848271	506	11098											
TMC1	117531	broad.mit.edu	37	chr9	75435903	75435903	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcaaataacttctacCtgggcatgctactgctcatc	11	11	6	13	0	3	1	2	0	1	1	4	1	3	1	2	1	5	3	2	1	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:75435903C>T	ENST00000297784.5	+	20	2449	c.1909C>T	c.(1909-1911)Ctg>Ttg	p.L637L	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Silent_p.L637L|TMC1_ENST00000340019.3_Silent_p.L637L	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	637					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TAACTTCTACCTGGGCATGCT	0.493													107	249					0	0	0	0	T	75435903	C	T	75435903	2	4	58	1	0	0	0	0	0	0	0	1	16078	680	24	4		4	TMC1	9	75435903	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1070743	75435903	65777528	507	11099											
VPS13A	23230	broad.mit.edu	37	chr9	79834959	79834959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaaataaacttggaaattGagttacataacatagcaatt	19	11	5	6	0	0	1	0	1	0	0	0	2	0	2	1	1	4	2	1	1	9	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:79834959G>C	ENST00000360280.3	+	11	1104	c.844G>C	c.(844-846)Gag>Cag	p.E282Q	VPS13A_ENST00000357409.5_Missense_Mutation_p.E282Q|VPS13A_ENST00000376636.3_Missense_Mutation_p.E282Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.E282Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	282					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTGGAAATTGAGTTACATAA	0.294													37	85					0	0	0	0	C	79834959	G	C	79834959	3	2	58	1	0	0	0	0	1	0	0	0	17285	1291	45	2	886	2	VPS13A	9	79834959	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4399056	79834959	61378472	508	11100											
TLE4	7091	broad.mit.edu	37	chr9	82323642	82323642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctccacaacatctcccctCagatgagcgcagctgctgcc	8	7	9	17	1	2	2	1	1	1	1	4	2	3	2	4	1	5	4	4	1	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:82323642C>G	ENST00000376520.4	+	14	2128	c.1300C>G	c.(1300-1302)Cag>Gag	p.Q434E	TLE4_ENST00000376552.2_Missense_Mutation_p.Q402E|TLE4_ENST00000376544.3_Missense_Mutation_p.Q333E|TLE4_ENST00000376534.4_Missense_Mutation_p.Q39E|TLE4_ENST00000265284.6_Missense_Mutation_p.Q377E|TLE4_ENST00000376537.4_Missense_Mutation_p.Q434E			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATCTCCCCTCAGATGAGCGC	0.572													19	41					0	0	0	0	G	82323642	C	G	82323642	3	3	58	1	0	0	0	0	1	0	0	0	16035	827	29	2	1254	2	TLE4	9	82323642	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2488683	82323642	58889789	509	11101											
TLE1	7088	broad.mit.edu	37	chr9	84205745	84205745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tagtgtctggttgtgcagatCccacacagcgatgttgccgt	7	12	12	10	2	1	1	0	0	1	1	2	2	2	1	2	1	3	3	2	1	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:84205745C>G	ENST00000376499.3	-	16	2868	c.1804G>C	c.(1804-1806)Gat>Cat	p.D602H		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	602					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TTGTGCAGATCCCACACAGCG	0.597													46	130					0	0	0	0	G	84205745	C	G	84205745	3	3	58	1	0	0	0	0	1	0	0	0	16032	855	30	2	528	2	TLE1	9	84205745	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1882103	84205745	57007686	510	11102											
DAPK1	1612	broad.mit.edu	37	chr9	90321338	90321338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgcaccgctcctgggctGatgaggaggacgaggtgatg	8	7	16	10	2	0	3	0	3	0	0	1	6	1	5	3	4	1	3	3	4	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:90321338G>A	ENST00000469640.2	+	27	3802	c.3427G>A	c.(3427-3429)Gat>Aat	p.D1143N	DAPK1_ENST00000408954.3_Missense_Mutation_p.D1118N|DAPK1_ENST00000491893.1_Missense_Mutation_p.D1052N|DAPK1_ENST00000472284.1_Missense_Mutation_p.D1118N|DAPK1_ENST00000358077.5_Missense_Mutation_p.D1118N			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1118					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CTCCTGGGCTGATGAGGAGGA	0.617									Chronic Lymphocytic Leukemia, Familial Clustering of				10	33					0	0	0	0	A	90321338	G	A	90321338	3	1	58	1	0	0	0	0	1	0	0	0	4268	1290	45	2	3450	2	DAPK1	9	90321338	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	6115593	90321338	50892093	511	11103											
C9orf47	286223	broad.mit.edu	37	chr9	91606129	91606129	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggcctgggaacaggggccGaagggcgagccggaccctag	8	2	18	13	4	0	0	0	0	0	0	0	4	0	2	5	6	2	0	5	6	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:91606129G>A	ENST00000334490.5	+	1	287	c.219G>A	c.(217-219)ccG>ccA	p.P73P	C9orf47_ENST00000375851.2_Intron|C9orf47_ENST00000375850.3_Intron			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	73						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						AACAGGGGCCGAAGGGCGAGC	0.706													7	7					0	0	0	0	A	91606129	G	A	91606129	2	1	58	1	0	0	0	0	0	0	0	1	2510	1045	37	1		1	C9orf47	9	91606129	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1284791	91606129	49607302	512	11104											
BICD2	23299	broad.mit.edu	37	chr9	95482755	95482755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagccattgaccagggcctCggcatcgttgttgggctcgg	7	9	14	11	3	0	1	0	1	0	0	3	1	0	1	3	4	1	4	3	4	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:95482755C>T	ENST00000356884.6	-	4	956	c.889G>A	c.(889-891)Gag>Aag	p.E297K	BICD2_ENST00000375512.3_Missense_Mutation_p.E297K	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	297					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACCAGGGCCTCGGCATCGTTG	0.612													44	89					0	0	0	0	T	95482755	C	T	95482755	3	4	58	1	0	0	0	0	1	0	0	0	1434	893	31	1	1704	1	BICD2	9	95482755	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3876626	95482755	45730676	513	11105											
WNK2	65268	broad.mit.edu	37	chr9	96055302	96055302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggccttctcgggccggctCgctgggccccgagacaccca	5	5	14	17	4	1	1	0	0	1	1	3	3	1	1	5	4	0	2	5	4	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:96055302C>T	ENST00000297954.4	+	23	5666	c.5666C>T	c.(5665-5667)tCg>tTg	p.S1889L	WNK2_ENST00000395477.2_Missense_Mutation_p.S1852L|WNK2_ENST00000427277.2_Missense_Mutation_p.S1464L|WNK2_ENST00000356055.3_Splice_Site_p.S214_splice|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.S1501L			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1889					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CGGGCCGGCTCGCTGGGCCCC	0.652													19	28					0	0	0	0	T	96055302	C	T	96055302	3	4	58	1	0	0	0	0	1	0	0	0	17474	893	31	1	5641	1	WNK2	9	96055302	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	572547	96055302	45158129	514	11106											
ALDOB	229	broad.mit.edu	37	chr9	104192167	104192167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttgatggaactgtccacaGagaagaggatttctcggaac	12	9	13	7	1	1	3	0	1	1	2	3	7	2	6	1	4	2	1	1	4	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:104192167G>A	ENST00000374855.4	-	3	318	c.194C>T	c.(193-195)tCt>tTt	p.S65F	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	65					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ACTGTCCACAGAGAAGAGGAT	0.547													73	196					0	0	0	0	A	104192167	G	A	104192167	3	1	58	1	0	0	0	0	1	0	0	0	508	942	33	2	928	2	ALDOB	9	104192167	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	8136865	104192167	37021264	515	11107											
ABCA1	19	broad.mit.edu	37	chr9	107578492	107578492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagagccggtcatcaatctCatgaaagagttccacaaagg	14	8	10	9	1	3	3	3	2	1	2	5	4	4	3	2	2	1	1	2	2	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:107578492C>T	ENST00000374736.3	-	25	4064	c.3670G>A	c.(3670-3672)Gag>Aag	p.E1224K		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1224					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCATCAATCTCATGAAAGAGT	0.493													100	252					0	0	0	0	T	107578492	C	T	107578492	3	4	58	1	0	0	0	0	1	0	0	0	28	835	29	2	3219	2	ABCA1	9	107578492	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3386325	107578492	33634939	516	11108											
ZNF462	58499	broad.mit.edu	37	chr9	109691062	109691062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccccctcgagcccgagatGaccactgaagtgagcccttc	8	7	10	16	2	0	4	0	3	0	1	3	6	1	4	5	0	2	0	5	0	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:109691062G>A	ENST00000277225.5	+	3	5158	c.4869G>A	c.(4867-4869)atG>atA	p.M1623I	ZNF462_ENST00000441147.2_Missense_Mutation_p.M468I|ZNF462_ENST00000457913.1_Missense_Mutation_p.M1623I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1623					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGCCCGAGATGACCACTGAAG	0.547													34	131					0	0	0	0	A	109691062	G	A	109691062	3	1	58	1	0	0	0	0	1	0	0	0	18021	1290	45	2	4875	2	ZNF462	9	109691062	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2112570	109691062	31522369	517	11109											
SVEP1	79987	broad.mit.edu	37	chr9	113168843	113168843	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccattgacagttccatattCaattactggtgtggaacatc	11	13	7	10	0	1	1	1	1	0	0	3	2	2	2	2	2	2	1	2	2	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:113168843C>G	ENST00000401783.2	-	38	9373	c.9037G>C	c.(9037-9039)Gaa>Caa	p.E3013Q	SVEP1_ENST00000297826.5_Missense_Mutation_p.E939Q|SVEP1_ENST00000374469.1_Missense_Mutation_p.E2990Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3013	Sushi 27.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTTCCATATTCAATTACTGGT	0.488													11	40					0	0	0	0	G	113168843	C	G	113168843	3	3	58	1	0	0	0	0	1	0	0	0	15510	835	29	2	1722	2	SVEP1	9	113168843	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3477781	113168843	28044588	518	11110											
ZNF483	158399	broad.mit.edu	37	chr9	114304423	114304423	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gataatctttattagaagatCaactctttctaggagaaaaa	17	13	6	5	0	4	3	1	0	3	3	4	5	4	3	0	1	1	0	0	1	8	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:114304423C>G	ENST00000309235.5	+	6	1366	c.1208C>G	c.(1207-1209)tCa>tGa	p.S403*	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	403					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATTAGAAGATCAACTCTTTCT	0.393													71	156					0	0	0	0	G	114304423	C	G	114304423	4	3	58	1	0	0	0	0	0	1	0	0	18031	838	29	2	1226	2	ZNF483	9	114304423	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1135580	114304423	26909008	519	11111											
SUSD1	64420	broad.mit.edu	37	chr9	114886646	114886646	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacatagcgagccacaccGcccagcctggagctgtgatt	10	6	11	14	2	0	2	0	1	0	1	0	4	0	3	4	1	4	1	4	1	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:114886646G>A	ENST00000374270.3	-	6	949	c.777C>T	c.(775-777)ggC>ggT	p.G259G	SUSD1_ENST00000374263.3_Silent_p.G259G|SUSD1_ENST00000374264.2_Silent_p.G259G|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	259	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GAGCCACACCGCCCAGCCTGG	0.517													19	69					0	0	0	0	A	114886646	G	A	114886646	2	1	58	1	0	0	0	0	0	0	0	1	15497	1074	38	1		1	SUSD1	9	114886646	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	582223	114886646	26326785	520	11112											
SNX30	401548	broad.mit.edu	37	chr9	115567235	115567235	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagacttacatcacctatagGatcaccaccaaagtaggtcc	14	8	7	12	0	2	1	2	0	0	1	3	3	3	2	4	2	1	1	4	2	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:115567235G>A	ENST00000374232.3	+	2	500	c.336G>A	c.(334-336)agG>agA	p.R112R		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	112	PX.				cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCACCTATAGGATCACCACCA	0.453													4	234					0	0	0	0	A	115567235	G	A	115567235	2	1	58	1	0	0	0	0	0	0	0	1	14988	1165	41	2		2	SNX30	9	115567235	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	680589	115567235	25646196	521	11113											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123173693	123173693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttctgcttcctcaagaaatGaatttctgatgttagagaac	12	14	8	7	0	3	4	1	2	2	2	4	5	4	4	1	0	2	3	1	0	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:123173693G>C	ENST00000349780.4	-	29	4536	c.4357C>G	c.(4357-4359)Cat>Gat	p.H1453D	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.H1421D|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.H1412D|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.H1453D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1453					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.H1453Y(1)		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						CTCAAGAAATGAATTTCTGAT	0.398													6	206					0	0	0	0	C	123173693	G	C	123173693	3	2	58	1	0	0	0	0	1	0	0	0	3175	1290	45	2	1364	2	CDK5RAP2	9	123173693	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	7606458	123173693	18039738	522	11114											
RC3H2	54542	broad.mit.edu	37	chr9	125642045	125642045	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtacttacctgaggggtctCatggccttttctactataat	8	16	8	9	0	2	1	1	1	2	0	3	1	2	1	2	3	3	1	2	3	5	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:125642045C>G	ENST00000373670.1	-	7	1801	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	RC3H2_ENST00000423239.2_Missense_Mutation_p.E401Q|RC3H2_ENST00000357244.2_Missense_Mutation_p.E401Q|RC3H2_ENST00000373665.2_Missense_Mutation_p.E401Q|RC3H2_ENST00000335387.5_Missense_Mutation_p.E401Q			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	401						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGAGGGGTCTCATGGCCTTTT	0.393													20	62					0	0	0	0	G	125642045	C	G	125642045	3	3	58	1	0	0	0	0	1	0	0	0	13249	835	29	2	2508	2	RC3H2	9	125642045	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2468352	125642045	15571386	523	11115											
MAPKAP1	79109	broad.mit.edu	37	chr9	128268677	128268677	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattgggctcgctctgcttCtccaggcggtactgagggcc	5	10	13	13	2	2	1	0	1	2	0	4	1	2	1	2	4	2	4	2	4	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:128268677C>T	ENST00000265960.3	-	8	1310	c.978G>A	c.(976-978)gaG>gaA	p.E326E	MAPKAP1_ENST00000373498.1_Silent_p.E326E|MAPKAP1_ENST00000373511.2_Silent_p.E326E|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000394063.1_Silent_p.E134E|MAPKAP1_ENST00000350766.3_Intron|MAPKAP1_ENST00000373503.3_Silent_p.E134E	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	326					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						CGCTCTGCTTCTCCAGGCGGT	0.552													35	107					0	0	0	0	T	128268677	C	T	128268677	2	4	58	1	0	0	0	0	0	0	0	1	9357	912	32	2		2	MAPKAP1	9	128268677	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2626632	128268677	12944754	524	11116											
ODF2	4957	broad.mit.edu	37	chr9	131231605	131231605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagattgatagtctaatGaatgcggttggttgtctgaa	13	13	12	3	1	2	5	0	3	2	2	2	5	2	5	0	2	1	2	0	2	6	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:131231605G>A	ENST00000303890.5	+	7	906	c.321G>A	c.(319-321)atG>atA	p.M107I	ODF2_ENST00000546203.1_Missense_Mutation_p.M112I|ODF2_ENST00000372796.4_Missense_Mutation_p.M131I|ODF2_ENST00000393533.2_Missense_Mutation_p.M131I|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372814.3_Missense_Mutation_p.M175I|ODF2_ENST00000351030.3_Missense_Mutation_p.M126I|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372791.3_Missense_Mutation_p.M112I|ODF2_ENST00000444119.2_Missense_Mutation_p.M107I|ODF2_ENST00000434106.2_Missense_Mutation_p.M131I|ODF2_ENST00000372807.5_Missense_Mutation_p.M126I	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	131					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATAGTCTAATGAATGCGGTTG	0.488													51	205					0	0	0	0	A	131231605	G	A	131231605	3	1	58	1	0	0	0	0	1	0	0	0	10898	1290	45	2	462	2	ODF2	9	131231605	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2962928	131231605	9981826	525	11117											
MED27	9442	broad.mit.edu	37	chr9	134952852	134952852	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttgaccacttatatgcttGaaggagttgactatagagag	12	13	11	5	0	0	4	0	3	0	1	0	6	0	5	1	1	1	3	1	1	5	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:134952852G>C	ENST00000292035.5	-	2	388	c.325C>G	c.(325-327)Caa>Gaa	p.Q109E	RP11-32B11.2_ENST00000444872.2_RNA|MED27_ENST00000372184.3_Missense_Mutation_p.Q109E|MED27_ENST00000357028.2_Missense_Mutation_p.Q71E|MED27_ENST00000474263.1_5'UTR	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	109					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TTATATGCTTGAAGGAGTTGA	0.413													10	286					0	0	0	0	C	134952852	G	C	134952852	3	2	58	1	0	0	0	0	1	0	0	0	9514	1299	45	2	638	2	MED27	9	134952852	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3721247	134952852	6260579	526	11118											
TTF1	7270	broad.mit.edu	37	chr9	135277284	135277284	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcccacagcaggccgggattCctgcatatcagccccaacct	9	6	9	17	1	1	0	1	0	0	0	2	1	2	1	6	2	4	2	6	2	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:135277284C>G	ENST00000334270.2	-	2	964	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	309					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GGCCGGGATTCCTGCATATCA	0.448													5	319					0	0	0	0	G	135277284	C	G	135277284	3	3	58	1	0	0	0	0	1	0	0	0	16814	864	30	2	1832	2	TTF1	9	135277284	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	324432	135277284	5936147	527	11119											
CAMSAP1	157922	broad.mit.edu	37	chr9	138719360	138719360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgcagcagggctgcctagGaaactgcgtttggtcgcgtt	6	10	14	11	3	0	0	0	0	0	0	1	1	0	1	2	3	5	5	2	3	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:138719360G>A	ENST00000389532.4	-	8	1180	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	CAMSAP1_ENST00000409386.3_Silent_p.F383F|CAMSAP1_ENST00000312405.6_Silent_p.F94F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	372						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGCTGCCTAGGAAACTGCGTT	0.597													11	37					0	0	0	0	A	138719360	G	A	138719360	2	1	58	1	0	0	0	0	0	0	0	1	2636	1165	41	2		2	CAMSAP1	9	138719360	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3442076	138719360	2494071	528	11120											
NOTCH1	4851	broad.mit.edu	37	chr9	139417620	139417620	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggttggaggcgcacgggtCagcctgctggcacgatttcc	5	8	17	11	3	1	0	1	0	0	0	2	2	2	1	2	6	2	4	2	6	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:139417620C>G	ENST00000277541.6	-	4	499	c.424G>C	c.(424-426)Gac>Cac	p.D142H	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	142	EGF-like 4.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGCACGGGTCAGCCTGCTGG	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			6	12					0	0	0	0	G	139417620	C	G	139417620	3	3	58	1	0	0	0	0	1	0	0	0	10617	826	29	2	7367	2	NOTCH1	9	139417620	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	698260	139417620	1795811	529	11121											
ABCA2	20	broad.mit.edu	37	chr9	139909403	139909403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcccccttcttggcggcctCgctgggcaggatgtaggaga	6	8	15	12	2	1	1	0	0	1	1	2	3	1	2	3	5	1	3	3	5	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:139909403C>T	ENST00000265662.5	-	25	3991	c.3844G>A	c.(3844-3846)Gag>Aag	p.E1282K	ABCA2_ENST00000371605.3_Missense_Mutation_p.E1281K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E1282K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1281					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTGGCGGCCTCGCTGGGCAGG	0.662													11	23					0	0	0	0	T	139909403	C	T	139909403	3	4	58	1	0	0	0	0	1	0	0	0	32	893	31	1	3566	1	ABCA2	9	139909403	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	491783	139909403	1304028	530	11122											
SFMBT2	57713	broad.mit.edu	37	chr10	7262467	7262467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggttcacagcttcaagtttCatgttctttgtgaaacctcg	8	15	9	9	1	4	1	3	1	1	0	5	1	4	1	1	1	2	4	1	1	2	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:7262467C>T	ENST00000361972.4	-	11	1326	c.1236G>A	c.(1234-1236)atG>atA	p.M412I	SFMBT2_ENST00000397167.1_Missense_Mutation_p.M412I	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	412					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTTCAAGTTTCATGTTCTTTG	0.517													62	116					0	0	0	0	T	7262467	C	T	7262467	3	4	58	1	0	0	0	0	1	0	0	0	14245	826	29	2	1492	2	SFMBT2	10	7262467	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08		7262467	128272280	531	11123											
DHTKD1	55526	broad.mit.edu	37	chr10	12162209	12162209	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagtcaggaggaacctcaGaacatgggtccgtggtcgtt	9	9	15	8	2	2	1	2	0	0	1	4	4	3	4	2	5	2	1	2	5	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:12162209G>A	ENST00000263035.4	+	16	2663	c.2601G>A	c.(2599-2601)caG>caA	p.Q867Q		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	867					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AGGAACCTCAGAACATGGGTC	0.448													79	115					0	0	0	0	A	12162209	G	A	12162209	2	1	58	1	0	0	0	0	0	0	0	1	4537	933	33	2		2	DHTKD1	10	12162209	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4899742	12162209	123372538	532	11124											
OLAH	55301	broad.mit.edu	37	chr10	15115168	15115168	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctggatcctgcgaacgaGaaattaatcaagaactacat	15	10	7	9	2	2	2	1	0	1	2	3	5	3	3	1	1	4	0	1	1	6	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:15115168G>A	ENST00000378217.3	+	9	1084	c.897G>A	c.(895-897)gaG>gaA	p.E299E	OLAH_ENST00000378228.3_Silent_p.E246E|OLAH_ENST00000485251.1_3'UTR	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	246					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CTGCGAACGAGAAATTAATCA	0.328													33	61					0	0	0	0	A	15115168	G	A	15115168	2	1	58	1	0	0	0	0	0	0	0	1	10922	933	33	2		2	OLAH	10	15115168	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2952959	15115168	120419579	533	11125											
STAM	8027	broad.mit.edu	37	chr10	17747604	17747604	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaaaacattcagaactctCagaacttaatgtgaaagtga	18	9	7	7	0	2	5	2	2	1	3	3	5	2	5	0	0	3	0	0	0	6	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:17747604C>G	ENST00000377524.3	+	12	1288	c.1073C>G	c.(1072-1074)tCa>tGa	p.S358*	STAM_ENST00000540523.1_Nonsense_Mutation_p.S247*	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	358					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TCAGAACTCTCAGAACTTAAT	0.323													4	89					0	0	0	0	G	17747604	C	G	17747604	4	3	58	1	0	0	0	0	0	1	0	0	15338	838	29	2	1119	2	STAM	10	17747604	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2632436	17747604	117787143	534	11126											
KIAA1217	56243	broad.mit.edu	37	chr10	24835129	24835129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctccttctcctgcctcctCcgtctcactgaatcaaggtg	5	12	6	18	1	3	1	2	1	2	0	8	1	6	1	6	1	1	0	6	1	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:24835129C>T	ENST00000376454.3	+	21	5738	c.5708C>T	c.(5707-5709)tCc>tTc	p.S1903F	KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S1224F|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1309F|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1334F	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1903	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						cctgcctcctccgtctcACTG	0.542													30	49					0	0	0	0	T	24835129	C	T	24835129	3	4	58	1	0	0	0	0	1	0	0	0	8267	855	30	2	5790	2	KIAA1217	10	24835129	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	7087525	24835129	110699618	535	11127											
PARD3	56288	broad.mit.edu	37	chr10	34649066	34649066	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatctgcgtggttctcttttGaccggttacctttgacactg	6	16	9	10	2	2	2	0	2	2	0	3	2	2	2	2	2	2	2	2	2	2	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:34649066G>C	ENST00000374789.3	-	13	2154	c.1829C>G	c.(1828-1830)tCa>tGa	p.S610*	PARD3_ENST00000340077.5_Nonsense_Mutation_p.S610*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.S610*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.S553*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.S610*|PARD3_ENST00000544292.1_Nonsense_Mutation_p.S327*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.S597*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.S597*|PARD3_ENST00000374768.1_Nonsense_Mutation_p.S48*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.S553*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.S553*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.S597*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.S610*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	610	PDZ 3.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTTCTCTTTTGACCGGTTACC	0.433													37	107					0	0	0	0	C	34649066	G	C	34649066	4	2	58	1	0	0	0	0	0	1	0	0	11514	1294	45	2	2328	2	PARD3	10	34649066	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	9813937	34649066	100885681	536	11128											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43650991	43650991	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcccaaattgacaaagctGaagttagcataggggccaaa	16	8	9	8	0	0	2	0	2	0	0	1	2	1	2	2	2	2	3	2	2	6	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:43650991G>C	ENST00000374466.3	+	2	729	c.394G>C	c.(394-396)Gaa>Caa	p.E132Q	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.E132Q	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	132					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGACAAAGCTGAAGTTAGCAT	0.413													44	63					0	0	0	0	C	43650991	G	C	43650991	3	2	58	1	0	0	0	0	1	0	0	0	3971	1291	45	2	396	2	CSGALNACT2	10	43650991	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	9001925	43650991	91883756	537	11129											
ZNF22	7570	broad.mit.edu	37	chr10	45498928	45498928	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagtggggcatgactattCgatttgactcaagcttcagt	11	12	11	7	1	2	3	2	2	0	1	3	4	2	3	0	2	1	2	0	2	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:45498928C>T	ENST00000298299.3	+	2	705	c.112C>T	c.(112-114)Cga>Tga	p.R38*	CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	38					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding	p.R38*(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				CATGACTATTCGATTTGACTC	0.453													54	65					0	0	0	0	T	45498928	C	T	45498928	4	4	58	1	0	0	0	0	0	1	0	0	17869	876	31	1	114	1	ZNF22	10	45498928	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1847937	45498928	90035819	538	11130											
JMJD1C	221037	broad.mit.edu	37	chr10	64968002	64968002	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaggtggaggctttgaaaGagatgttataaatgaagtca	16	10	12	3	0	1	3	1	2	0	1	1	5	1	4	0	3	0	2	0	3	6	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:64968002G>C	ENST00000399262.2	-	10	3645	c.3427C>G	c.(3427-3429)Ctt>Gtt	p.L1143V	JMJD1C_ENST00000399251.1_Missense_Mutation_p.L924V|JMJD1C_ENST00000542921.1_Missense_Mutation_p.L961V|JMJD1C_ENST00000402544.1_Missense_Mutation_p.L924V	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1143					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGCTTTGAAAGAGATGTTATA	0.408													8	319					0	0	0	0	C	64968002	G	C	64968002	3	2	58	1	0	0	0	0	1	0	0	0	8003	942	33	2	4263	2	JMJD1C	10	64968002	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	19469074	64968002	70566745	539	11131											
STOX1	219736	broad.mit.edu	37	chr10	70646010	70646010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaacctaacctctctgctGaaagttgtggcctaaattca	13	11	7	10	0	2	2	1	1	1	1	3	2	2	2	3	1	3	2	3	1	6	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:70646010G>A	ENST00000298596.6	+	3	2541	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	STOX1_ENST00000421961.2_Missense_Mutation_p.E710K|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.E820K|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	820						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CCTCTCTGCTGAAAGTTGTGG	0.483													56	65					0	0	0	0	A	70646010	G	A	70646010	3	1	58	1	0	0	0	0	1	0	0	0	15409	1291	45	2	2468	2	STOX1	10	70646010	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	5678008	70646010	64888737	540	11132											
NRG3	10718	broad.mit.edu	37	chr10	83635424	83635424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactccaaggggatgggcCaggaccccttcttcctctcc	6	9	11	15	0	2	0	0	0	2	0	5	3	4	3	6	5	0	0	6	5	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:83635424C>A	ENST00000404547.1	+	1	328	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	NRG3_ENST00000372141.2_Missense_Mutation_p.Q110K			P56975	NRG3_HUMAN	neuregulin 3	110	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGGGATGGGCCAGGACCCCTT	0.642													24	40					1.85244e-09	1.9276e-09	1	0	A	83635424	C	A	83635424	3	1	58	1	0	0	0	0	1	0	0	0	10720	595	21	4	330	4	NRG3	10	83635424	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	12989414	83635424	51899323	541	11133											
PTEN	5728	broad.mit.edu	37	chr10	89624268	89624268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcgttagcagaaacaaaagGagatatcaagaggatggatt	18	8	11	4	1	1	3	1	0	0	3	2	6	1	5	0	3	2	2	0	3	6	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:89624268G>T	ENST00000371953.3	+	1	1399	c.42G>T	c.(40-42)agG>agT	p.R14S		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	14	Phosphatase tensin-type.				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 cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|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|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain 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.?(13)|p.R14fs*29(1)|p.R14fs*26(1)|p.I8_R14>LRLICIF(1)|p.N12fs*6(1)|p.R14_D22del(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)		GAAACAAAAGGAGATATCAAG	0.478		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)			61	56					6.2918e-36	6.82397e-36	1	0	T	89624268	G	T	89624268	3	4	58	1	0	0	0	0	1	0	0	0	12817	1165	41	2	44	2	PTEN	10	89624268	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	5988844	89624268	45910479	542	11134											
PDE6C	5146	broad.mit.edu	37	chr10	95372755	95372755	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagaggctggcccacctgctCcaggctgaccgctgcagcat	7	6	12	16	1	0	2	0	1	0	1	1	2	1	2	4	3	3	6	4	3	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:95372755C>G	ENST00000371447.3	+	1	411	c.273C>G	c.(271-273)ctC>ctG	p.L91L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	91	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CCCACCTGCTCCAGGCTGACC	0.657													21	32					0	0	0	0	G	95372755	C	G	95372755	2	3	58	1	0	0	0	0	0	0	0	1	11718	842	30	2		2	PDE6C	10	95372755	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5748487	95372755	40161992	543	11135											
CYP2C9	1559	broad.mit.edu	37	chr10	96701723	96701723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctgattgatcttggagagGagttttctggaagaggcatt	9	13	13	6	0	2	4	0	2	2	2	2	7	2	6	1	4	0	2	1	4	1	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:96701723G>A	ENST00000260682.6	+	2	289	c.277G>A	c.(277-279)Gag>Aag	p.E93K	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	93					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCTTGGAGAGGAGTTTTCTGG	0.493													7	256					0	0	0	0	A	96701723	G	A	96701723	3	1	58	1	0	0	0	0	1	0	0	0	4200	1175	41	2	283	2	CYP2C9	10	96701723	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1328968	96701723	38833024	544	11136											
MGEA5	10724	broad.mit.edu	37	chr10	103558920	103558920	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatcagtgtccattggtttCaattcctctgccattttcgc	6	18	6	11	1	3	0	2	0	1	0	6	0	5	0	3	1	1	1	3	1	2	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:103558920C>G	ENST00000361464.3	-	9	1883	c.1488G>C	c.(1486-1488)ttG>ttC	p.L496F	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000370094.3_Missense_Mutation_p.L496F|MGEA5_ENST00000357797.5_Missense_Mutation_p.L443F|MGEA5_ENST00000439817.1_Missense_Mutation_p.L443F	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	496					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CCATTGGTTTCAATTCCTCTG	0.413													5	477					0	0	0	0	G	103558920	C	G	103558920	3	3	58	1	0	0	0	0	1	0	0	0	9624	825	29	2	1294	2	MGEA5	10	103558920	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6857197	103558920	31975827	545	11137											
CALHM2	51063	broad.mit.edu	37	chr10	105209672	105209672	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagaaaagtgacaggaagcgGaagttctctgcgatcagggc	14	6	14	7	2	2	2	1	1	1	1	3	5	2	4	0	3	2	1	0	3	5	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:105209672G>A	ENST00000393235.1	-	3	1224	c.27C>T	c.(25-27)ttC>ttT	p.F9F	CALHM2_ENST00000260743.5_Silent_p.F9F|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000369788.3_Silent_p.F9F			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	9						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						ACAGGAAGCGGAAGTTCTCTG	0.577													68	79					0	0	0	0	A	105209672	G	A	105209672	2	1	58	1	0	0	0	0	0	0	0	1	2608	1165	41	2		2	CALHM2	10	105209672	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1650752	105209672	30325075	546	11138											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118386480	118386480	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acattcgggttgttggggcgGagacagctttcttaatacaa	10	12	12	7	2	1	1	0	0	1	1	2	2	1	1	0	4	2	3	0	4	3	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:118386480G>C	ENST00000537242.1	+	0	462				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	p.E146*(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGTTGGGGCGGAGACAGCTTT	0.577													15	16					0	0	0	0	C	118386480	G	C	118386480	1	2	58	0	1	0	0	0	0	0	0	0	12223	1175	41	2		2	PNLIPRP2	10	118386480	RNA	SNP	G	TCGA-CN-4723-01A-01D-1434-08	13176808	118386480	17148267	547	11139											
BAG3	9531	broad.mit.edu	37	chr10	121436717	121436717	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccccacacagaaacccagCagccagaagccacagcagca	16	1	7	17	0	0	2	0	0	0	2	1	2	1	2	5	0	6	3	5	0	2	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:121436717C>T	ENST00000369085.3	+	4	1957	c.1651C>T	c.(1651-1653)Cag>Tag	p.Q551*		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	551					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AGAAACCCAGCAGCCAGAAGC	0.552													31	52					0	0	0	0	T	121436717	C	T	121436717	4	4	58	1	0	0	0	0	0	1	0	0	1292	711	25	4	1665	4	BAG3	10	121436717	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3050237	121436717	14098030	548	11140											
ACADSB	36	broad.mit.edu	37	chr10	124800176	124800176	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacctatttgcctcagctCactacagaaaaagtgagttg	12	10	8	11	0	2	2	2	1	0	1	2	2	2	2	3	0	3	2	3	0	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:124800176C>G	ENST00000358776.4	+	4	512	c.498C>G	c.(496-498)ctC>ctG	p.L166L	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Silent_p.L64L	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	166					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	TGCCTCAGCTCACTACAGAAA	0.358													58	51					0	0	0	0	G	124800176	C	G	124800176	2	3	58	1	0	0	0	0	0	0	0	1	115	813	29	2		2	ACADSB	10	124800176	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3363459	124800176	10734571	549	11141											
FAM53B	9679	broad.mit.edu	37	chr10	126311954	126311954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgcagctgtctgactcctCacaggacaggtcctcctggc	6	8	12	15	1	2	1	1	1	1	0	5	2	5	2	3	4	1	2	3	4	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:126311954C>T	ENST00000337318.3	-	5	1337	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.E376K	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	376										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		TCTGACTCCTCACAGGACAGG	0.716													5	29					0	0	0	0	T	126311954	C	T	126311954	3	4	58	1	0	0	0	0	1	0	0	0	5627	835	29	2	146	2	FAM53B	10	126311954	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1511778	126311954	9222793	550	11142											
CTBP2	1488	broad.mit.edu	37	chr10	126681775	126681775	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacggaggggctcacctgtGatggctcggcggatctcggt	5	8	17	11	4	2	1	1	1	1	0	4	3	2	3	1	7	0	3	1	7	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:126681775G>A	ENST00000309035.6	-	7	2785	c.2655C>T	c.(2653-2655)atC>atT	p.I885I	CTBP2_ENST00000337195.5_Silent_p.I345I|CTBP2_ENST00000494626.2_Silent_p.I345I|CTBP2_ENST00000411419.2_Silent_p.I345I|CTBP2_ENST00000334808.6_Silent_p.I413I|CTBP2_ENST00000531469.1_Silent_p.I345I	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	345					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCTCACCTGTGATGGCTCGGC	0.642													9	14					0	0	0	0	A	126681775	G	A	126681775	2	1	58	1	0	0	0	0	0	0	0	1	4030	1280	45	2		2	CTBP2	10	126681775	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	369821	126681775	8852972	551	11143											
ADAM12	8038	broad.mit.edu	37	chr10	127806646	127806646	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggtggtggaaacacattCtttgcagcgaggtttggtgt	8	12	16	5	1	1	0	0	0	1	0	1	3	1	1	0	5	3	2	0	5	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:127806646C>G	ENST00000368679.4	-	6	882	c.573G>C	c.(571-573)aaG>aaC	p.K191N	ADAM12_ENST00000368676.4_Missense_Mutation_p.K191N	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	191					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.K191N(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GAAACACATTCTTTGCAGCGA	0.493													33	311					0	0	0	0	G	127806646	C	G	127806646	3	3	58	1	0	0	0	0	1	0	0	0	236	912	32	2	2336	2	ADAM12	10	127806646	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1124871	127806646	7728101	552	11144											
JAKMIP3	282973	broad.mit.edu	37	chr10	133930805	133930805	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcggctgcaggcactgctCagtgccctgcgtgatggcgg	5	7	16	13	3	1	1	1	1	0	0	1	1	1	1	1	4	5	4	1	4	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:133930805C>G	ENST00000298622.4	+	2	498	c.360C>G	c.(358-360)ctC>ctG	p.L120L		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGCACTGCTCAGTGCCCTGC	0.612													24	29					0	0	0	0	G	133930805	C	G	133930805	2	3	58	1	0	0	0	0	0	0	0	1	7995	813	29	2		2	JAKMIP3	10	133930805	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6124159	133930805	1603942	553	11145											
TUBGCP2	10844	broad.mit.edu	37	chr10	135106655	135106655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagctgtgacaccagaatCaggtgctccttcaccagggt	9	9	10	13	0	2	2	2	1	0	1	4	2	4	2	4	2	2	2	4	2	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:135106655C>T	ENST00000368563.2	-	7	1268	c.912G>A	c.(910-912)ctG>ctA	p.L304L	TUBGCP2_ENST00000543663.1_Silent_p.L332L|TUBGCP2_ENST00000252936.3_Silent_p.L304L|TUBGCP2_ENST00000417178.2_Silent_p.L174L	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	304					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ACACCAGAATCAGGTGCTCCT	0.592													53	43					0	0	0	0	T	135106655	C	T	135106655	2	4	58	1	0	0	0	0	0	0	0	1	16862	813	29	2		2	TUBGCP2	10	135106655	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1175850	135106655	428092	554	11146											
MTG1	92170	broad.mit.edu	37	chr10	135212703	135212703	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atggtcactgaactgattggGagaagccaccgctaccaccg	11	7	11	12	2	1	3	1	2	0	1	1	4	1	3	4	2	3	1	4	2	3	2	rs142057422		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:135212703G>C	ENST00000468317.2	+	6	663	c.408G>C	c.(406-408)ggG>ggC	p.G136G	MTG1_ENST00000317502.6_Silent_p.G131G|MTG1_ENST00000477902.2_Silent_p.G90G																							AACTGATTGGGAGAAGCCACC	0.632													29	29					0	0	0	0	C	135212703	G	C	135212703	2	2	58	1	0	0	0	0	0	0	0	1	9996	1161	41	2		2	MTG1	10	135212703	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	106048	135212703	322044	555	11147											
CYP2E1	1571	broad.mit.edu	37	chr10	135345198	135345198	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgagagccggatccagagGgaggcccacttcctgctgga	10	6	14	11	1	0	2	0	1	0	2	2	6	2	5	4	4	2	1	4	4	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:135345198G>C	ENST00000463117.2	+	5	719	c.447G>C	c.(445-447)agG>agC	p.R149S	CYP2E1_ENST00000480558.1_3'UTR|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.R149S			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	149					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GGATCCAGAGGGAGGCCCACT	0.597									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				59	72					0	0	0	0	C	135345198	G	C	135345198	3	2	58	1	0	0	0	0	1	0	0	0	4202	1223	43	4	457	4	CYP2E1	10	135345198	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	132495	135345198	189549	556	11148											
SIGIRR	59307	broad.mit.edu	37	chr11	407115	407115	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggcgtccgaaagcaccacGatgaggcgtcggcagcggct	10	4	15	12	6	0	1	0	1	0	0	2	3	1	1	2	4	2	3	2	4	2	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:407115G>A	ENST00000431843.2	-	7	981	c.675C>T	c.(673-675)atC>atT	p.I225I	SIGIRR_ENST00000531205.1_Silent_p.I225I|SIGIRR_ENST00000382520.2_Silent_p.I225I|SIGIRR_ENST00000397632.3_Silent_p.I225I|SIGIRR_ENST00000332725.3_Silent_p.I225I	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	225	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAAGCACCACGATGAGGCGTC	0.761													5	14					0	0	0	0	A	407115	G	A	407115	2	1	58	1	0	0	0	0	0	0	0	1	14392	1048	37	1		1	SIGIRR	11	407115	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08		407115	134599401	557	11149											
RNH1	6050	broad.mit.edu	37	chr11	500607	500607	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggttgactcgaagtgcaGagctgatgtccttgcaccgt	8	10	13	10	2	0	3	0	2	0	1	2	4	1	3	2	1	3	4	2	1	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:500607G>C	ENST00000534797.1	-	2	1556	c.149C>G	c.(148-150)tCt>tGt	p.S50C	RNH1_ENST00000438658.2_Missense_Mutation_p.S50C|RNH1_ENST00000397614.1_Missense_Mutation_p.S50C|RNH1_ENST00000397604.3_Missense_Mutation_p.S50C|RNH1_ENST00000397615.2_Missense_Mutation_p.S50C|RNH1_ENST00000356187.5_Missense_Mutation_p.S50C|RNH1_ENST00000354420.2_Missense_Mutation_p.S50C|RNH1_ENST00000533410.1_Missense_Mutation_p.S50C			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	50					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCGAAGTGCAGAGCTGATGTC	0.642													20	60					0	0	0	0	C	500607	G	C	500607	3	2	58	1	0	0	0	0	1	0	0	0	13589	942	33	2	1268	2	RNH1	11	500607	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	93492	500607	134505909	558	11150											
C11orf35	256329	broad.mit.edu	37	chr11	558713	558713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcctggatctccagttctCgctgtctccacagcagccgc	6	9	10	16	2	3	0	0	0	3	0	6	1	3	1	4	2	2	3	4	2	0	1	rs148047813	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:558713C>T	ENST00000329451.3	-	3	274	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	71										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCCAGTTCTCGCTGTCTCCA	0.672													10	8					0	0	0	0	T	558713	C	T	558713	3	4	58	1	0	0	0	0	1	0	0	0	1649	884	31	1	1740	1	C11orf35	11	558713	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	58106	558713	134447803	559	11151											
DEAF1	10522	broad.mit.edu	37	chr11	691546	691546	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgttcgccacagacgtggtGaagacattgtctgcagcagc	9	8	13	11	3	1	3	0	1	1	2	2	3	1	3	1	1	3	3	1	1	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:691546G>A	ENST00000382409.3	-	2	826	c.342C>T	c.(340-342)ttC>ttT	p.F114F	DEAF1_ENST00000338675.6_Silent_p.F114F	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	114	Ala-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CAGACGTGGTGAAGACATTGT	0.592													15	42					0	0	0	0	A	691546	G	A	691546	2	1	58	1	0	0	0	0	0	0	0	1	4412	1281	45	2		2	DEAF1	11	691546	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	132833	691546	134314970	560	11152											
CTSD	1509	broad.mit.edu	37	chr11	1774754	1774754	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagaggcgggcagcctcggcGaagcccaccctgttgttgtc	6	8	14	13	3	0	1	0	0	0	1	2	2	0	1	3	3	2	3	3	3	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:1774754G>A	ENST00000236671.2	-	9	1350	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	406					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCCTCGGCGAAGCCCACCC	0.667													19	64					0	0	0	0	A	1774754	G	A	1774754	2	1	58	1	0	0	0	0	0	0	0	1	4064	1049	37	1		1	CTSD	11	1774754	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1083208	1774754	133231762	561	11153											
RRM1	6240	broad.mit.edu	37	chr11	4132854	4132854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagagcggtcttatttgttGaagatcaatggaaaaggtga	13	12	12	4	1	2	4	1	2	1	2	2	5	2	5	0	3	1	1	0	3	6	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:4132854G>T	ENST00000300738.5	+	6	675	c.471G>T	c.(469-471)ttG>ttT	p.L157F	RRM1_ENST00000423050.2_Missense_Mutation_p.L60F	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	157					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	CTTATTTGTTGAAGATCAATG	0.328													29	77					4.3181e-19	4.59428e-19	1	0	T	4132854	G	T	4132854	3	4	58	1	0	0	0	0	1	0	0	0	13766	1281	45	2	493	2	RRM1	11	4132854	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2358100	4132854	130873662	562	11154											
TRIM5	85363	broad.mit.edu	37	chr11	5701231	5701231	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttctcaggctggtaactgatCcggcacacagggcagctact	9	9	11	12	1	1	1	1	1	1	0	3	1	2	1	1	4	3	5	1	4	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:5701231C>G	ENST00000305836.5	-	2	479	c.177G>C	c.(175-177)cgG>cgC	p.R59R	TRIM5_ENST00000380027.1_Silent_p.R59R|TRIM5_ENST00000396847.3_Silent_p.R59R|TRIM5_ENST00000396853.4_Silent_p.R59R|TRIM5_ENST00000396855.3_Silent_p.R59R|TRIM5_ENST00000380034.3_Silent_p.R59R			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	59					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GGTAACTGATCCGGCACACAG	0.547													6	234					0	0	0	0	G	5701231	C	G	5701231	2	3	58	1	0	0	0	0	0	0	0	1	16620	842	30	2		2	TRIM5	11	5701231	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1568377	5701231	129305285	563	11155											
DNHD1	144132	broad.mit.edu	37	chr11	6519765	6519765	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttgatttgctgccctTcctggagcagctgtactgct	5	13	9	14	0	0	1	0	1	0	0	1	2	1	2	4	1	6	5	4	1	1	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6519765T>G	ENST00000254579.6	+	3	884	c.320T>G	c.(319-321)tTc>tGc	p.F107C	DNHD1_ENST00000354685.3_Missense_Mutation_p.F107C|DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000527990.2_Missense_Mutation_p.F107C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	107					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTGCTGCCCTTCCTGGAGCAG	0.567													6	306					0	0	0	0	G	6519765	T	G	6519765	3	3	58	1	0	0	0	0	1	0	0	0	4704	1783	62	5	322	5	DNHD1	11	6519765	Missense_Mutation	SNP	T	TCGA-CN-4723-01A-01D-1434-08	818534	6519765	128486751	564	11156											
DNHD1	144132	broad.mit.edu	37	chr11	6587845	6587845	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgaactgctaaaggggctGaatgtgttggatctgggcct	8	12	15	6	0	1	2	0	2	1	0	1	3	1	3	1	4	2	3	1	4	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6587845G>C	ENST00000254579.6	+	35	11799	c.11235G>C	c.(11233-11235)ctG>ctC	p.L3745L	DNHD1_ENST00000527990.2_Silent_p.L3745L	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3745					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TAAAGGGGCTGAATGTGTTGG	0.512													9	28					0	0	0	0	C	6587845	G	C	6587845	2	2	58	1	0	0	0	0	0	0	0	1	4704	1277	45	2		2	DNHD1	11	6587845	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	68080	6587845	128418671	565	11157											
OR10A5	144124	broad.mit.edu	37	chr11	6866955	6866955	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaataagtgaatttatcctCatgagcttctcttccctacc	11	14	5	11	0	2	2	1	2	1	0	5	3	4	2	3	0	2	1	3	0	5	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6866955C>T	ENST00000299454.4	+	1	73	c.42C>T	c.(40-42)ctC>ctT	p.L14L	OR10A5_ENST00000379831.2_Silent_p.L18L			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AATTTATCCTCATGAGCTTCT	0.413													7	484					0	0	0	0	T	6866955	C	T	6866955	2	4	58	1	0	0	0	0	0	0	0	1	10964	813	29	2		2	OR10A5	11	6866955	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	279110	6866955	128139561	566	11158											
OR10A5	144124	broad.mit.edu	37	chr11	6867662	6867662	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcacacctccttgttgtctCtcttttctatatatcttcta	6	20	2	13	0	6	0	1	0	5	0	8	0	7	0	2	0	0	1	2	0	4	9			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6867662C>G	ENST00000299454.4	+	1	780	c.749C>G	c.(748-750)tCt>tGt	p.S250C	OR10A5_ENST00000379831.2_Missense_Mutation_p.S254C			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTGTTGTCTCTCTTTTCTAT	0.423													102	310					0	0	0	0	G	6867662	C	G	6867662	3	3	58	1	0	0	0	0	1	0	0	0	10964	913	32	2	751	2	OR10A5	11	6867662	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	707	6867662	128138854	567	11159											
RBMXL2	27288	broad.mit.edu	37	chr11	7111102	7111102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccactccagtgtccgggacGactgtcccttgagaggctac	7	8	12	14	2	0	1	0	1	0	1	3	4	3	2	4	2	1	1	4	2	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:7111102G>A	ENST00000306904.5	+	1	938	c.751G>A	c.(751-753)Gac>Aac	p.D251N		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	251	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTCCGGGACGACTGTCCCTT	0.642													13	28					0	0	0	0	A	7111102	G	A	7111102	3	1	58	1	0	0	0	0	1	0	0	0	13236	1058	37	1	753	1	RBMXL2	11	7111102	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	243440	7111102	127895414	568	11160											
MICAL2	9645	broad.mit.edu	37	chr11	12183923	12183923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaattggataagcgtggttCccacaaagagtataagcgag	15	8	11	7	2	0	1	0	0	0	1	1	3	1	2	1	2	2	2	1	2	5	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:12183923C>T	ENST00000256194.4	+	3	509	c.221C>T	c.(220-222)tCc>tTc	p.S74F	MICAL2_ENST00000537344.1_Missense_Mutation_p.S74F|MICAL2_ENST00000527546.1_Missense_Mutation_p.S74F|MICAL2_ENST00000379612.3_Missense_Mutation_p.S74F|MICAL2_ENST00000342902.5_Missense_Mutation_p.S74F	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	74						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAGCGTGGTTCCCACAAAGAG	0.502													11	49					0	0	0	0	T	12183923	C	T	12183923	3	4	58	1	0	0	0	0	1	0	0	0	9639	855	30	2	223	2	MICAL2	11	12183923	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5072821	12183923	122822593	569	11161											
HPS5	11234	broad.mit.edu	37	chr11	18318449	18318449	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agagggtttggctgtgaaggGagcaagagtcttcatctgac	10	10	15	6	0	3	4	1	2	2	2	3	5	3	5	0	3	1	3	0	3	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18318449G>C	ENST00000396253.3	-	11	1526	c.1064C>G	c.(1063-1065)tCc>tGc	p.S355C	HPS5_ENST00000438420.2_Missense_Mutation_p.S355C|HPS5_ENST00000349215.3_Missense_Mutation_p.S469C|HPS5_ENST00000531848.1_Missense_Mutation_p.S355C	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	469						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCTGTGAAGGGAGCAAGAGTC	0.418									Hermansky-Pudlak syndrome				64	181					0	0	0	0	C	18318449	G	C	18318449	3	2	58	1	0	0	0	0	1	0	0	0	7392	1174	41	2	2031	2	HPS5	11	18318449	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	6134526	18318449	116688067	570	11162											
SPTY2D1	144108	broad.mit.edu	37	chr11	18655767	18655767	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcacattgttgacaccttgtCccttggaagctatcatgaga	10	12	9	10	0	1	2	1	2	0	1	2	4	2	3	2	1	1	3	2	1	2	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18655767C>G	ENST00000336349.5	-	1	273	c.38G>C	c.(37-39)gGa>gCa	p.G13A	SPTY2D1_ENST00000543776.1_Intron	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	13										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GACACCTTGTCCCTTGGAAGC	0.547													72	269					0	0	0	0	G	18655767	C	G	18655767	3	3	58	1	0	0	0	0	1	0	0	0	15216	855	30	2	2043	2	SPTY2D1	11	18655767	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	337318	18655767	116350749	571	11163											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955404	18955404	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgacagctccaggatttcctCaggaagctgccctccacctt	8	9	8	16	1	1	0	1	0	0	0	4	3	4	2	5	2	3	2	5	2	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18955404C>G	ENST00000302797.3	-	1	1152	c.928G>C	c.(928-930)Gag>Cag	p.E310Q		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	310				EEI -> QET (in Ref. 2; AAL86880).	acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGATTTCCTCAGGAAGCTGC	0.572													40	83					0	0	0	0	G	18955404	C	G	18955404	3	3	58	1	0	0	0	0	1	0	0	0	9836	835	29	2	44	2	MRGPRX1	11	18955404	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	299637	18955404	116051112	572	11164											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956074	18956074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgggggatactgatgaaGcttaacagggaatatataag	15	10	13	3	0	0	2	0	2	0	0	0	4	0	4	0	3	3	2	0	3	8	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18956074G>T	ENST00000302797.3	-	1	482	c.258C>A	c.(256-258)agC>agA	p.S86R	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	86					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TACTGATGAAGCTTAACAGGG	0.522													46	135					4.21674e-32	4.54935e-32	1	0	T	18956074	G	T	18956074	3	4	58	1	0	0	0	0	1	0	0	0	9836	962	34	4	714	4	MRGPRX1	11	18956074	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	670	18956074	116050442	573	11165											
SLC6A5	9152	broad.mit.edu	37	chr11	20658825	20658825	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgcatttgtttcttcatCatgggttttccaatgatcac	7	18	7	9	0	4	1	3	1	1	0	5	1	5	1	1	1	2	4	1	1	1	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:20658825C>G	ENST00000525748.1	+	12	2118	c.1845C>G	c.(1843-1845)atC>atG	p.I615M	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	615					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GTTTCTTCATCATGGGTTTTC	0.532													32	85					0	0	0	0	G	20658825	C	G	20658825	3	3	58	1	0	0	0	0	1	0	0	0	14775	816	29	2	1891	2	SLC6A5	11	20658825	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1702751	20658825	114347691	574	11166											
SLC5A12	159963	broad.mit.edu	37	chr11	26700349	26700349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagatcgagtaccaggtatCagctattccaggtctgtgga	10	10	13	8	1	2	1	1	0	1	1	4	4	3	2	2	4	2	3	2	4	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:26700349C>T	ENST00000396005.3	-	13	1798	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	497					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TACCAGGTATCAGCTATTCCA	0.468													25	81					0	0	0	0	T	26700349	C	T	26700349	3	4	58	1	0	0	0	0	1	0	0	0	14752	826	29	2	379	2	SLC5A12	11	26700349	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6041524	26700349	108306167	575	11167											
KCNA4	3739	broad.mit.edu	37	chr11	30033388	30033388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcggggagggccctgtcttCctcttctctcacaaagccct	5	11	9	16	1	4	0	1	0	3	0	7	1	5	1	3	3	1	0	3	3	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:30033388C>T	ENST00000328224.6	-	2	2071	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	280						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GCCCTGTCTTCCTCTTCTCTC	0.507													32	95					0	0	0	0	T	30033388	C	T	30033388	3	4	58	1	0	0	0	0	1	0	0	0	8058	864	30	2	1127	2	KCNA4	11	30033388	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3333039	30033388	104973128	576	11168											
DCDC1	341019	broad.mit.edu	37	chr11	31312293	31312293	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtcctctcagtaagtttCttcattctaatagaaagaac	13	13	7	8	0	4	2	2	0	3	2	6	3	5	2	1	1	1	2	1	1	5	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:31312293C>T	ENST00000597505.1	-	5	860	c.861G>A	c.(859-861)aaG>aaA	p.K287K	DCDC1_ENST00000452803.1_Silent_p.K287K			P59894	DCDC1_HUMAN	doublecortin domain containing 1	287					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGTAAGTTTCTTCATTCTAA	0.388													38	94					0	0	0	0	T	31312293	C	T	31312293	2	4	58	1	0	0	0	0	0	0	0	1	4316	912	32	2		2	DCDC1	11	31312293	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1278905	31312293	103694223	577	11169											
CCDC73	493860	broad.mit.edu	37	chr11	32676499	32676499	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttggactttatcaagtctGaggctgctttttttagttcc	6	19	8	8	0	2	1	1	1	1	0	3	2	3	2	1	2	1	3	1	2	3	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:32676499G>C	ENST00000335185.5	-	10	708	c.665C>G	c.(664-666)tCa>tGa	p.S222*	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	222										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TATCAAGTCTGAGGCTGCTTT	0.299													17	48					0	0	0	0	C	32676499	G	C	32676499	4	2	58	1	0	0	0	0	0	1	0	0	2873	1294	45	2	2610	2	CCDC73	11	32676499	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1364206	32676499	102330017	578	11170											
PRDM11	56981	broad.mit.edu	37	chr11	45241142	45241142	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgtggtcatctcccgggaGgagagggagcagaacctgct	9	7	15	10	2	2	2	1	0	1	2	3	5	2	4	2	4	4	2	2	4	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:45241142G>C	ENST00000263765.4	+	7	927	c.678G>C	c.(676-678)gaG>gaC	p.E226D	PRDM11_ENST00000424263.2_Missense_Mutation_p.E192D|PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000530656.1_Missense_Mutation_p.E226D|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	226	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCTCCCGGGAGGAGAGGGAGC	0.662													20	45					0	0	0	0	C	45241142	G	C	45241142	3	2	58	1	0	0	0	0	1	0	0	0	12532	991	35	4	700	4	PRDM11	11	45241142	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	12564643	45241142	89765374	579	11171											
CKAP5	9793	broad.mit.edu	37	chr11	46801864	46801864	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggttatggcagcagtcctCacagcctgccagacagaaga	12	6	12	11	0	1	3	1	0	0	3	2	3	2	3	3	2	3	3	3	2	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:46801864C>G	ENST00000529230.1	-	20	2359	c.2313G>C	c.(2311-2313)gtG>gtC	p.V771V	CKAP5_ENST00000312055.5_Silent_p.V771V|CKAP5_ENST00000415402.1_Silent_p.V771V|CKAP5_ENST00000354558.3_Silent_p.V771V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	771					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CAGCAGTCCTCACAGCCTGCC	0.418													12	42					0	0	0	0	G	46801864	C	G	46801864	2	3	58	1	0	0	0	0	0	0	0	1	3475	813	29	2		2	CKAP5	11	46801864	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1560722	46801864	88204652	580	11172											
C11orf49	79096	broad.mit.edu	37	chr11	47176813	47176813	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatccagttttactactcagGtgagtgttccggggctccat	7	13	11	10	1	1	1	1	1	0	0	4	2	4	1	3	3	2	3	3	3	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:47176813G>A	ENST00000395460.2	+	5	489		c.e5+1		C11orf49_ENST00000378618.2_Splice_Site|C11orf49_ENST00000536126.1_Splice_Site|C11orf49_ENST00000543718.1_Splice_Site|C11orf49_ENST00000527268.1_Splice_Site|C11orf49_ENST00000378615.3_Splice_Site|C11orf49_ENST00000278460.7_Splice_Site	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TACTACTCAGGTGAGTGTTCC	0.542													64	217					0	0	0	0	A	47176813	G	A	47176813	5	1	58	1	0	0	0	0	0	0	1	0	1656	1275	44	4	470	4	C11orf49	11	47176813	Splice_Site	SNP	G	TCGA-CN-4723-01A-01D-1434-08	374949	47176813	87829703	581	11173											
AGBL2	79841	broad.mit.edu	37	chr11	47684621	47684621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagaatcagggtggccattGatgggtccaggggggtgtct	7	9	18	7	0	2	2	1	1	1	1	3	2	3	2	2	6	0	1	2	6	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:47684621G>A	ENST00000525123.1	-	18	2777	c.2492C>T	c.(2491-2493)tCa>tTa	p.S831L	AGBL2_ENST00000357610.3_Missense_Mutation_p.S833L|AGBL2_ENST00000298861.4_Missense_Mutation_p.S831L	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	831					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GGTGGCCATTGATGGGTCCAG	0.353													106	325					0	0	0	0	A	47684621	G	A	47684621	3	1	58	1	0	0	0	0	1	0	0	0	376	1294	45	2	224	2	AGBL2	11	47684621	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	507808	47684621	87321895	582	11174											
NUP160	23279	broad.mit.edu	37	chr11	47819408	47819408	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtcataaggtccacagctCtagcacgtgactcaattatt	12	11	8	10	1	3	1	2	1	1	0	4	2	4	1	1	1	2	2	1	1	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:47819408C>G	ENST00000378460.2	-	27	3258	c.3212G>C	c.(3211-3213)aGa>aCa	p.R1071T	NUP160_ENST00000530326.1_Missense_Mutation_p.R957T|NUP160_ENST00000528071.1_Missense_Mutation_p.R957T	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1071					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GTCCACAGCTCTAGCACGTGA	0.438													35	138					0	0	0	0	G	47819408	C	G	47819408	3	3	58	1	0	0	0	0	1	0	0	0	10828	913	32	2	1138	2	NUP160	11	47819408	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	134787	47819408	87187108	583	11175											
OR4A15	81328	broad.mit.edu	37	chr11	55135371	55135371	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttttgacatggagcttctGacaaataatctcaaatttat	14	16	5	6	0	2	2	1	2	2	0	3	3	2	3	0	1	1	1	0	1	4	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:55135371G>A	ENST00000314706.3	+	1	12	c.12G>A	c.(10-12)ctG>ctA	p.L4L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGGAGCTTCTGACAAATAATC	0.408													21	66					0	0	0	0	A	55135371	G	A	55135371	2	1	58	1	0	0	0	0	0	0	0	1	11111	1277	45	2		2	OR4A15	11	55135371	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	7315963	55135371	79871145	584	11176											
OR5L1	219437	broad.mit.edu	37	chr11	55579557	55579557	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttcctggtggccactttGaatgagagtgttaccatcat	8	14	10	9	0	1	2	1	2	0	1	2	3	2	2	3	2	1	2	3	2	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:55579557G>A	ENST00000333973.2	+	1	704	c.615G>A	c.(613-615)ttG>ttA	p.L205L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGGCCACTTTGAATGAGAGTG	0.468													71	229					0	0	0	0	A	55579557	G	A	55579557	2	1	58	1	0	0	0	0	0	0	0	1	11241	1281	45	2		2	OR5L1	11	55579557	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	444186	55579557	79426959	585	11177											
OR8H2	390151	broad.mit.edu	37	chr11	55872928	55872928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acactacacagttattatgtCcaaaaggctctgcctcgctc	11	11	6	13	1	1	0	0	0	1	0	4	0	2	0	2	1	2	3	2	1	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:55872928C>T	ENST00000313503.1	+	1	410	c.410C>T	c.(409-411)tCc>tTc	p.S137F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTTATTATGTCCAAAAGGCTC	0.468										HNSCC(53;0.14)			116	280					0	0	0	0	T	55872928	C	T	55872928	3	4	58	1	0	0	0	0	1	0	0	0	11309	855	30	2	412	2	OR8H2	11	55872928	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	293371	55872928	79133588	586	11178											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57080763	57080763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgataagctccagttggactCtgccccaaagggacgatcca	11	8	10	12	1	1	1	0	1	1	0	3	4	3	3	4	2	2	2	4	2	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:57080763C>G	ENST00000532437.1	-	4	1710	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E467Q			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	467	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CAGTTGGACTCTGCCCCAAAG	0.672													21	42					0	0	0	0	G	57080763	C	G	57080763	3	3	58	1	0	0	0	0	1	0	0	0	16414	922	32	2	3818	2	TNKS1BP1	11	57080763	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1207835	57080763	77925753	587	11179											
OR1S1	219959	broad.mit.edu	37	chr11	57982933	57982933	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatcatcagagctgtcctGagagtatcttccacacaggg	10	10	10	11	0	3	2	2	1	1	2	5	3	5	2	2	1	2	3	2	1	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:57982933G>A	ENST00000309433.6	+	1	717	c.717G>A	c.(715-717)ctG>ctA	p.L239L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L239L(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GAGCTGTCCTGAGAGTATCTT	0.438													42	75					0	0	0	0	A	57982933	G	A	57982933	2	1	58	1	0	0	0	0	0	0	0	1	11043	1277	45	2		2	OR1S1	11	57982933	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	902170	57982933	77023583	588	11180											
MTA2	9219	broad.mit.edu	37	chr11	62364201	62364201	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaccattcctccatctCatcccgacacagcaccgggc	8	7	8	18	2	1	1	1	1	1	0	5	2	4	1	5	2	1	2	5	2	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:62364201C>A	ENST00000278823.2	-	9	1179	c.790G>T	c.(790-792)Gag>Tag	p.E264*	MTA2_ENST00000524902.1_Nonsense_Mutation_p.E91*|MTA2_ENST00000527204.1_Nonsense_Mutation_p.E91*	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	264	SANT.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCCTCCATCTCATCCCGACAC	0.537													54	110					9.55421e-19	1.01565e-18	1	0	A	62364201	C	A	62364201	4	1	58	1	0	0	0	0	0	1	0	0	9979	835	29	2	1256	2	MTA2	11	62364201	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4381268	62364201	72642315	589	11181											
UBXN1	51035	broad.mit.edu	37	chr11	62444320	62444320	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgctccatgtcagcttctGagaaggcccgtctggggaag	7	8	14	12	2	3	1	1	1	2	1	4	3	4	2	3	3	1	2	3	3	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:62444320G>C	ENST00000294119.2	-	8	940	c.809C>G	c.(808-810)tCa>tGa	p.S270*	UBXN1_ENST00000301935.5_Nonsense_Mutation_p.S270*|UBXN1_ENST00000529640.1_Nonsense_Mutation_p.S266*|UBXN1_ENST00000533000.1_Intron	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	270	Interaction with BRCA1.|UBX.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						GTCAGCTTCTGAGAAGGCCCG	0.592													62	187					0	0	0	0	C	62444320	G	C	62444320	4	2	58	1	0	0	0	0	0	1	0	0	17007	1294	45	2	133	2	UBXN1	11	62444320	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	80119	62444320	72562196	590	11182											
SLC22A10	387775	broad.mit.edu	37	chr11	63072312	63072312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattgtcttcctcctaccaGaaaccaagaatctgcctttg	10	14	5	12	0	2	2	0	0	2	2	4	2	4	2	5	0	3	0	5	0	5	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:63072312G>C	ENST00000332793.6	+	9	1551	c.1549G>C	c.(1549-1551)Gaa>Caa	p.E517Q	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	517						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTCCTACCAGAAACCAAGAA	0.433													51	208					0	0	0	0	C	63072312	G	C	63072312	3	2	58	1	0	0	0	0	1	0	0	0	14529	943	33	2	1583	2	SLC22A10	11	63072312	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	627992	63072312	71934204	591	11183											
SLC22A11	55867	broad.mit.edu	37	chr11	64323848	64323848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgaccgcagcgtcttcacctCcaccatcgtggccaaggtag	8	8	10	15	3	2	1	1	1	1	0	4	1	3	1	5	2	1	2	5	2	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:64323848C>G	ENST00000301891.4	+	1	751	c.377C>G	c.(376-378)tCc>tGc	p.S126C	SLC22A11_ENST00000377581.3_Missense_Mutation_p.S126C|SLC22A11_ENST00000377585.3_Missense_Mutation_p.S126C|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	126					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GTCTTCACCTCCACCATCGTG	0.627													14	36					0	0	0	0	G	64323848	C	G	64323848	3	3	58	1	0	0	0	0	1	0	0	0	14530	855	30	2	379	2	SLC22A11	11	64323848	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1251536	64323848	70682668	592	11184											
ZFPL1	7542	broad.mit.edu	37	chr11	64853913	64853913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcactgggcctgcctcaatGaacgtgctgcccagctaccc	7	9	9	16	1	2	1	2	1	0	0	2	1	2	1	4	1	6	2	4	1	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:64853913G>A	ENST00000294258.3	+	4	393	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	81					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CTGCCTCAATGAACGTGCTGC	0.592													115	303					0	0	0	0	A	64853913	G	A	64853913	3	1	58	1	0	0	0	0	1	0	0	0	17751	1291	45	2	251	2	ZFPL1	11	64853913	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	530065	64853913	70152603	593	11185											
KDM2A	22992	broad.mit.edu	37	chr11	66985207	66985207	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttaactcacaggtcttCtggctcatcccccctacagc	7	14	5	15	0	4	0	2	0	2	0	5	0	5	0	3	2	3	1	3	2	2	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:66985207C>T	ENST00000529006.2	+	9	1139	c.693C>T	c.(691-693)ttC>ttT	p.F231F	KDM2A_ENST00000526258.1_Intron|KDM2A_ENST00000398645.2_Silent_p.F231F	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	231	JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CACAGGTCTTCTGGCTCATCC	0.483													7	33					0	0	0	0	T	66985207	C	T	66985207	2	4	58	1	0	0	0	0	0	0	0	1	8177	912	32	2		2	KDM2A	11	66985207	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2131294	66985207	68021309	594	11186											
CPT1A	1374	broad.mit.edu	37	chr11	68575046	68575046	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgatgagggccacccaCaggccggtgccaaacagcac	11	3	13	14	2	0	2	0	2	0	0	0	3	0	2	4	3	3	1	4	3	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:68575046C>G	ENST00000265641.5	-	4	496	c.342G>C	c.(340-342)ctG>ctC	p.L114L	CPT1A_ENST00000376618.2_Silent_p.L114L|CPT1A_ENST00000540367.1_Silent_p.L114L|CPT1A_ENST00000539743.1_Silent_p.L114L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	114					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GGGCCACCCACAGGCCGGTGC	0.607													14	56					0	0	0	0	G	68575046	C	G	68575046	2	3	58	1	0	0	0	0	0	0	0	1	3861	465	17	4		4	CPT1A	11	68575046	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1589839	68575046	66431470	595	11187											
CTTN	2017	broad.mit.edu	37	chr11	70253636	70253636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttcagaatgatgtgagtGagaaggagcaaagatggggt	13	10	15	3	0	1	5	1	3	0	3	1	7	1	6	0	3	1	1	0	3	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:70253636G>A	ENST00000301843.8	+	4	306	c.100G>A	c.(100-102)Gag>Aag	p.E34K	CTTN_ENST00000376561.3_Missense_Mutation_p.E34K|CTTN_ENST00000527622.1_3'UTR|CTTN_ENST00000346329.3_Missense_Mutation_p.E34K	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	34						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGATGTGAGTGAGAAGGAGCA	0.552													34	135					0	0	0	0	A	70253636	G	A	70253636	3	1	58	1	0	0	0	0	1	0	0	0	4076	1291	45	2	106	2	CTTN	11	70253636	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1678590	70253636	64752880	596	11188											
FCHSD2	9873	broad.mit.edu	37	chr11	72712082	72712082	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcactgtccttgcaggctCagaaatgaagtttttatagt	10	15	8	8	0	2	2	2	1	1	1	4	2	3	2	1	1	1	3	1	1	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:72712082C>G	ENST00000409314.1	-	5	508	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	FCHSD2_ENST00000311172.7_Missense_Mutation_p.E58Q|FCHSD2_ENST00000409853.1_Missense_Mutation_p.E58Q|FCHSD2_ENST00000458644.2_Intron|FCHSD2_ENST00000409418.4_Missense_Mutation_p.E114Q			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	114							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTTGCAGGCTCAGAAATGAAG	0.368													6	21					0	0	0	0	G	72712082	C	G	72712082	3	3	58	1	0	0	0	0	1	0	0	0	5835	835	29	2	1946	2	FCHSD2	11	72712082	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2458446	72712082	62294434	597	11189											
PGM2L1	283209	broad.mit.edu	37	chr11	74053568	74053568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcccgtacatgcaatatagCaaatgttccacaaaattttg	14	12	6	9	1	0	0	0	0	0	0	2	0	2	0	2	0	3	4	2	0	7	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:74053568C>G	ENST00000298198.4	-	12	1881	c.1570G>C	c.(1570-1572)Gct>Cct	p.A524P		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	524					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TGCAATATAGCAAATGTTCCA	0.323													4	199					0	0	0	0	G	74053568	C	G	74053568	3	3	58	1	0	0	0	0	1	0	0	0	11871	710	25	4	310	4	PGM2L1	11	74053568	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1341486	74053568	60952948	598	11190											
SLCO2B1	11309	broad.mit.edu	37	chr11	74873772	74873772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggcacagaaaacacacctgGaggcaaagccagcccagacc	15	1	11	14	0	0	2	0	0	0	2	0	3	0	3	4	3	3	2	4	3	3	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:74873772G>A	ENST00000289575.5	+	2	484	c.89G>A	c.(88-90)gGa>gAa	p.G30E	SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G8E|SLCO2B1_ENST00000532236.1_Intron|SLCO2B1_ENST00000526660.1_Intron	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	30					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	AACACACCTGGAGGCAAAGCC	0.577													111	237					0	0	0	0	A	74873772	G	A	74873772	3	1	58	1	0	0	0	0	1	0	0	0	14815	1174	41	2	95	2	SLCO2B1	11	74873772	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	820204	74873772	60132744	599	11191											
RPS3	6188	broad.mit.edu	37	chr11	75111786	75111786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactgaatgagtttcttactCgggagctggctgaagatggc	10	11	13	7	1	1	4	0	3	1	1	2	5	1	5	0	3	3	3	0	3	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:75111786C>T	ENST00000531188.1	+	2	141	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	RPS3_ENST00000529285.1_3'UTR|RPS3_ENST00000527446.1_Missense_Mutation_p.R27W|RPS3_ENST00000534440.1_Missense_Mutation_p.R27W|RPS3_ENST00000278572.6_Missense_Mutation_p.R27W|RPS3_ENST00000530164.1_Missense_Mutation_p.R27W|RPS3_ENST00000524851.1_Missense_Mutation_p.R27W|RPS3_ENST00000526608.1_Missense_Mutation_p.R27W	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	27	KH type-2.				activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GTTTCTTACTCGGGAGCTGGC	0.438													5	195					0	0	0	0	T	75111786	C	T	75111786	3	4	58	1	0	0	0	0	1	0	0	0	13728	875	31	1	85	1	RPS3	11	75111786	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	238014	75111786	59894730	600	11192											
PRKRIR	5612	broad.mit.edu	37	chr11	76062412	76062412	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttgaggtgctgttctgaGaatatatctttaagttcctg	8	17	10	6	0	2	2	0	2	2	1	3	3	3	2	1	1	1	4	1	1	4	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:76062412G>A	ENST00000260045.3	-	5	1887	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	594					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GCTGTTCTGAGAATATATCTT	0.418													61	143					0	0	0	0	A	76062412	G	A	76062412	2	1	58	1	0	0	0	0	0	0	0	1	12606	933	33	2		2	PRKRIR	11	76062412	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	950626	76062412	58944104	601	11193											
RSF1	51773	broad.mit.edu	37	chr11	77378293	77378293	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttggtgctctcttgttctGagggcaggaccctaggctgg	4	13	14	10	0	3	1	0	1	3	0	4	2	3	2	1	5	1	4	1	5	1	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:77378293G>C	ENST00000308488.6	-	16	4297	c.3995C>G	c.(3994-3996)tCa>tGa	p.S1332*	RSF1_ENST00000360355.2_Nonsense_Mutation_p.S1301*|RSF1_ENST00000480887.1_Nonsense_Mutation_p.S1080*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1332					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCTTGTTCTGAGGGCAGGAC	0.522													61	153					0	0	0	0	C	77378293	G	C	77378293	4	2	58	1	0	0	0	0	0	1	0	0	13784	1294	45	2	334	2	RSF1	11	77378293	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1315881	77378293	57628223	602	11194											
KCTD21	283219	broad.mit.edu	37	chr11	77884871	77884871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcataaaatccagagcatGtgggtgagaagaatcgatgc	14	9	12	6	1	1	3	1	1	0	3	3	5	2	3	1	1	2	2	1	1	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:77884871G>A	ENST00000340067.3	-	2	1008	c.730C>T	c.(730-732)Cat>Tat	p.H244Y	KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000528468.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	244						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			TCCAGAGCATGTGGGTGAGAA	0.478													66	241					0	0	0	0	A	77884871	G	A	77884871	3	1	58	1	0	0	0	0	1	0	0	0	8162	1377	48	4	56	4	KCTD21	11	77884871	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	506578	77884871	57121645	603	11195											
SYTL2	54843	broad.mit.edu	37	chr11	85436774	85436774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtttgtctagactagcagtCaaagagttccgtttaacctt	11	14	8	8	1	2	2	1	0	1	2	3	2	3	2	2	0	2	4	2	0	4	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:85436774C>T	ENST00000359152.5	-	1	2297	c.2298G>A	c.(2296-2298)ttG>ttA	p.L766L	SYTL2_ENST00000525423.1_Silent_p.L242L|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Silent_p.L242L|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	278					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GACTAGCAGTCAAAGAGTTCC	0.438													57	189					0	0	0	0	T	85436774	C	T	85436774	2	4	58	1	0	0	0	0	0	0	0	1	15574	825	29	2		2	SYTL2	11	85436774	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	7551903	85436774	49569742	604	11196											
ME3	10873	broad.mit.edu	37	chr11	86160950	86160950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttgacaatgagccctttaGagtccaccatccagatcttt	10	12	6	13	0	1	4	0	2	1	2	3	4	3	4	5	0	1	0	5	0	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:86160950G>C	ENST00000543262.1	-	10	1438	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	ME3_ENST00000393324.3_Missense_Mutation_p.S371C|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.S371C	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	371					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GAGCCCTTTAGAGTCCACCAT	0.522													75	160					0	0	0	0	C	86160950	G	C	86160950	3	2	58	1	0	0	0	0	1	0	0	0	9488	942	33	2	726	2	ME3	11	86160950	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	724176	86160950	48845566	605	11197											
CCDC67	159989	broad.mit.edu	37	chr11	93127665	93127665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtggaagagtaccataactCtgagcaggaaagaatgagga	16	6	14	5	0	1	4	0	2	1	2	1	7	1	7	1	4	3	2	1	4	5	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:93127665C>G	ENST00000298050.3	+	10	1182	c.1082C>G	c.(1081-1083)tCt>tGt	p.S361C	CCDC67_ENST00000525646.1_Missense_Mutation_p.S103C	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	361										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TACCATAACTCTGAGCAGGAA	0.393													9	13					0	0	0	0	G	93127665	C	G	93127665	3	3	58	1	0	0	0	0	1	0	0	0	2866	913	32	2	1116	2	CCDC67	11	93127665	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6966715	93127665	41878851	606	11198											
MED17	9440	broad.mit.edu	37	chr11	93523943	93523943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gataaaattctcggagatctGagctacagaagtgcaggtat	14	10	11	6	1	2	3	0	1	2	2	3	5	2	3	0	2	3	3	0	2	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:93523943G>A	ENST00000251871.3	+	3	908	c.621G>A	c.(619-621)ctG>ctA	p.L207L		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	207					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCGGAGATCTGAGCTACAGAA	0.418													16	69					0	0	0	0	A	93523943	G	A	93523943	2	1	58	1	0	0	0	0	0	0	0	1	9504	1277	45	2		2	MED17	11	93523943	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	396278	93523943	41482573	607	11199											
CNTN5	53942	broad.mit.edu	37	chr11	99786823	99786823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccggacaagaagtgcagtCtctgtgagggaaggccaggg	10	5	18	8	1	1	2	0	1	1	1	2	4	1	4	2	5	1	1	2	5	3	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:99786823C>T	ENST00000524871.1	+	7	905	c.615C>T	c.(613-615)gtC>gtT	p.V205V	CNTN5_ENST00000528682.1_Silent_p.V205V|CNTN5_ENST00000527185.1_Silent_p.V205V|CNTN5_ENST00000418526.2_Silent_p.V131V|CNTN5_ENST00000279463.3_Silent_p.V205V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	205	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAAGTGCAGTCTCTGTGAGGG	0.453													10	25					0	0	0	0	T	99786823	C	T	99786823	2	4	58	1	0	0	0	0	0	0	0	1	3674	900	32	2		2	CNTN5	11	99786823	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6262880	99786823	35219693	608	11200											
DDI1	414301	broad.mit.edu	37	chr11	103908514	103908514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgctctttctccatacttGaggatcaacccatggatatg	10	13	8	10	0	3	1	1	1	2	0	4	3	3	3	2	2	3	1	2	2	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:103908514G>A	ENST00000302259.3	+	1	1207	c.964G>A	c.(964-966)Gag>Aag	p.E322K	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	322					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTCCATACTTGAGGATCAACC	0.448													47	156					0	0	0	0	A	103908514	G	A	103908514	3	1	58	1	0	0	0	0	1	0	0	0	4360	1291	45	2	966	2	DDI1	11	103908514	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4121691	103908514	31098002	609	11201											
TMPRSS5	80975	broad.mit.edu	37	chr11	113563881	113563881	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggggtgtgggataatcctCtccaccagagccccttggtg	7	9	14	11	0	1	1	0	0	1	1	3	2	2	2	5	4	1	0	5	4	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:113563881C>G	ENST00000299882.5	-	9	1024	c.876G>C	c.(874-876)gaG>gaC	p.E292D	TMPRSS5_ENST00000540540.1_Missense_Mutation_p.E33D|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.E283D|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.E179D|TMPRSS5_ENST00000545265.1_5'UTR|TMPRSS5_ENST00000536856.1_Missense_Mutation_p.E33D|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.E248D|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.E223D	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	292	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		GGATAATCCTCTCCACCAGAG	0.637													6	9					0	0	0	0	G	113563881	C	G	113563881	3	3	58	1	0	0	0	0	1	0	0	0	16344	912	32	2	517	2	TMPRSS5	11	113563881	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	9655367	113563881	21442635	610	11202											
HTR3B	9177	broad.mit.edu	37	chr11	113816676	113816676	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggaaccctgaaggaagtCtggtcgcagcttcaatctat	11	9	10	11	1	3	1	1	1	2	0	4	3	3	3	2	3	2	2	2	3	5	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:113816676C>T	ENST00000260191.2	+	9	1400	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	HTR3B_ENST00000537778.1_Silent_p.V370V	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	381	HA-stretch.				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TGAAGGAAGTCTGGTCGCAGC	0.572													23	56					0	0	0	0	T	113816676	C	T	113816676	2	4	58	1	0	0	0	0	0	0	0	1	7498	900	32	2		2	HTR3B	11	113816676	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	252795	113816676	21189840	611	11203											
SIK3	23387	broad.mit.edu	37	chr11	116730264	116730264	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaacagttctcaggttgctGctgaaagattgcactgcggg	9	10	14	8	1	1	2	1	1	1	1	2	3	1	3	0	3	5	5	0	3	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:116730264G>A	ENST00000375300.1	-	19	2343	c.2338C>T	c.(2338-2340)Cag>Tag	p.Q780*	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Nonsense_Mutation_p.Q780*|SIK3_ENST00000434315.2_Nonsense_Mutation_p.Q621*|SIK3_ENST00000375288.1_Nonsense_Mutation_p.Q117*|SIK3_ENST00000292055.4_Nonsense_Mutation_p.Q722*|SIK3_ENST00000542607.1_Nonsense_Mutation_p.Q722*			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	722	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCAGGTTGCTGCTGAAAGATT	0.552											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	29	104					0	0	0	0	A	116730264	G	A	116730264	4	1	58	1	0	0	0	0	0	1	0	0	14407	1328	46	4	1647	4	SIK3	11	116730264	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2913588	116730264	18276252	612	11204											
PCSK7	9159	broad.mit.edu	37	chr11	117098989	117098989	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcatccactaccaccacCgtcacccctcgcccagtcac	8	6	4	23	3	3	0	3	0	0	0	5	0	4	0	8	0	1	0	8	0	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:117098989C>T	ENST00000320934.3	-	4	1176	c.546G>A	c.(544-546)acG>acA	p.T182T		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	182	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CTACCACCACCGTCACCCCTC	0.582			T	IGH@	MLCLS								12	24					0	0	0	0	T	117098989	C	T	117098989	2	4	58	1	0	0	0	0	0	0	0	1	11676	639	23	1		1	PCSK7	11	117098989	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	368725	117098989	17907527	613	11205											
CD3D	915	broad.mit.edu	37	chr11	118210614	118210614	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatccagctccacacagctCtggcacactgtgggggaagg	9	6	14	12	0	1	0	0	0	1	0	3	2	3	2	2	5	2	3	2	5	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:118210614C>G	ENST00000300692.4	-	3	418	c.282G>C	c.(280-282)caG>caC	p.Q94H	CD3D_ENST00000392884.2_Intron|CD3D_ENST00000529594.1_Missense_Mutation_p.Q21H	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	94					positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCACACAGCTCTGGCACACTG	0.547													21	74					0	0	0	0	G	118210614	C	G	118210614	3	3	58	1	0	0	0	0	1	0	0	0	3039	912	32	2	245	2	CD3D	11	118210614	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1111625	118210614	16795902	614	11206											
PHLDB1	23187	broad.mit.edu	37	chr11	118499169	118499169	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgagcccagcctacagtCtgggctctcttactggggct	5	10	13	13	0	2	1	0	1	2	0	3	1	2	1	2	4	4	3	2	4	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:118499169C>T	ENST00000361417.2	+	7	2041	c.1630C>T	c.(1630-1632)Ctg>Ttg	p.L544L	PHLDB1_ENST00000356063.5_Silent_p.L544L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	544										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGCCTACAGTCTGGGCTCTCT	0.642													11	24					0	0	0	0	T	118499169	C	T	118499169	2	4	58	1	0	0	0	0	0	0	0	1	11923	912	32	2		2	PHLDB1	11	118499169	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	288555	118499169	16507347	615	11207											
DPAGT1	1798	broad.mit.edu	37	chr11	118971068	118971069	+	Frame_Shift_Ins	INS	-	-	A																															cctgctaggatattgatggcINSattggtacagaacactgcca																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:118971068_118971069insA	ENST00000409993.2	-	6	2097_2098	c.546_547insT	c.(544-549)aaccatfs	p.H183fs	DPAGT1_ENST00000432443.2_Frame_Shift_Ins_p.H76fs|DPAGT1_ENST00000354202.4_Frame_Shift_Ins_p.H183fs			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	183					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATATTGATGGCATTGGTACAGA	0.5											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	124	---	---	---	---					A	118971069	-	A	118971068	7	5	58	1	0	1	1	0	0	0	0	0	4746	710	25	0	703	0	DPAGT1	11	118971068	Frame_Shift_Ins	INS	-	TCGA-CN-4723-01A-01D-1434-08	471899	118971068	16035448	616	11208											
MCAM	4162	broad.mit.edu	37	chr11	119185721	119185721	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctggccctggcgcacacgGaagatgagcgtccgcttctc	6	7	12	16	4	1	2	0	1	1	1	3	3	2	3	3	3	1	2	3	3	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:119185721G>A	ENST00000264036.4	-	3	236	c.222C>T	c.(220-222)ttC>ttT	p.F74F	MCAM_ENST00000530144.2_5'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	74	Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GGCGCACACGGAAGATGAGCG	0.647													56	156					0	0	0	0	A	119185721	G	A	119185721	2	1	58	1	0	0	0	0	0	0	0	1	9437	1165	41	2		2	MCAM	11	119185721	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	214653	119185721	15820795	617	11209											
VSIG2	23584	broad.mit.edu	37	chr11	124621364	124621364	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgcacaaagctccaCtccagggcgaagctgtctcc	9	6	10	16	1	1	0	0	0	1	0	4	1	3	0	4	2	3	4	4	2	2	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:124621364C>G	ENST00000403470.1	-	2	229	c.174G>C	c.(172-174)gaG>gaC	p.E58D	VSIG2_ENST00000326621.5_Missense_Mutation_p.E58D			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	58	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CAAAGCTCCACTCCAGGGCGA	0.627													34	112					0	0	0	0	G	124621364	C	G	124621364	3	3	58	1	0	0	0	0	1	0	0	0	17320	564	20	4	833	4	VSIG2	11	124621364	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5435643	124621364	10385152	618	11210											
CDON	50937	broad.mit.edu	37	chr11	125830980	125830980	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaatgttgatctctgtttCtgaatgggcacagctgtctc	8	15	9	9	0	3	2	0	2	3	0	5	2	3	2	0	1	2	4	0	1	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:125830980C>A	ENST00000392693.3	-	20	3848	c.3721G>T	c.(3721-3723)Gaa>Taa	p.E1241*	CDON_ENST00000263577.7_Nonsense_Mutation_p.E1218*|CDON_ENST00000531738.1_Nonsense_Mutation_p.E595*	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1241					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ATCTCTGTTTCTGAATGGGCA	0.443													18	49					2.94398e-08	3.04798e-08	1	0	A	125830980	C	A	125830980	4	1	58	1	0	0	0	0	0	1	0	0	3199	922	32	2	146	2	CDON	11	125830980	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1209616	125830980	9175536	619	11211											
GLB1L3	112937	broad.mit.edu	37	chr11	134182365	134182365	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccgcctccgtgcccaCgctcatgacgtggcacaggt	6	6	14	15	4	1	1	1	1	0	0	2	2	2	2	4	4	1	2	4	4	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:134182365C>T	ENST00000431683.2	+	14	1410	c.1410C>T	c.(1408-1410)caC>caT	p.H470H		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	470					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCGTGCCCACGCTCATGACG	0.587													18	56					0	0	0	0	T	134182365	C	T	134182365	2	4	58	1	0	0	0	0	0	0	0	1	6481	535	19	1		1	GLB1L3	11	134182365	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	8351385	134182365	824151	620	11212											
LRTM2	654429	broad.mit.edu	37	chr12	1943843	1943843	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctgatgggggaccccGagggcgagcacgaggaccag	9	2	17	13	3	0	1	0	1	0	0	0	6	0	3	5	4	2	1	5	4	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:1943843G>T	ENST00000543818.1	+	5	1911	c.1069G>T	c.(1069-1071)Gag>Tag	p.E357*	CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000535041.1_Nonsense_Mutation_p.E357*|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Nonsense_Mutation_p.E357*|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	357						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGGGGACCCCGAGGGCGAGCA	0.652													31	79					3.93418e-24	4.20763e-24	1	0	T	1943843	G	T	1943843	4	4	58	1	0	0	0	0	0	1	0	0	9109	1059	37	3	1079	3	LRTM2	12	1943843	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08		1943843	131908052	621	11213											
CACNA1C	775	broad.mit.edu	37	chr12	2774834	2774834	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtccccaccacctggatGagtttaaaagaatctgggca	11	10	10	10	0	1	2	0	1	1	1	2	3	2	3	4	3	0	2	4	3	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:2774834G>C	ENST00000399655.1	+	36	4751	c.4486G>C	c.(4486-4488)Gag>Cag	p.E1496Q	CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1516Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1521Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1524Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1485Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E1544Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1485Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1483Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1518Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1513Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1496Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1544	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCACCTGGATGAGTTTAAAAG	0.493													29	56					0	0	0	0	C	2774834	G	C	2774834	3	2	58	1	0	0	0	0	1	0	0	0	2565	1291	45	2	4954	2	CACNA1C	12	2774834	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	830991	2774834	131077061	622	11214											
FKBP4	2288	broad.mit.edu	37	chr12	2907035	2907035	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaatgccacgcttgtatttGaggtgagtgtttggtcactg	7	14	12	8	1	1	2	1	2	0	0	1	2	1	2	2	2	1	3	2	2	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:2907035G>C	ENST00000001008.4	+	3	578	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	131	PPIase FKBP-type 1.				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GCTTGTATTTGAGGTGAGTGT	0.552													50	156					0	0	0	0	C	2907035	G	C	2907035	3	2	58	1	0	0	0	0	1	0	0	0	5955	1291	45	2	401	2	FKBP4	12	2907035	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	132201	2907035	130944860	623	11215											
DYRK4	8798	broad.mit.edu	37	chr12	4705759	4705759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaatcaccttaggtttCaccagcaggccctgatggag	9	9	9	14	0	2	1	2	1	0	0	3	2	3	2	4	3	1	2	4	3	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:4705759C>A	ENST00000540757.2	+	6	584	c.424C>A	c.(424-426)Cac>Aac	p.H142N	DYRK4_ENST00000543431.1_Missense_Mutation_p.H142N|DYRK4_ENST00000010132.5_Missense_Mutation_p.H142N	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	142	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CCTTAGGTTTCACCAGCAGGC	0.527													16	34					5.35267e-07	5.51854e-07	1	0	A	4705759	C	A	4705759	3	1	58	1	0	0	0	0	1	0	0	0	4894	826	29	2	438	2	DYRK4	12	4705759	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1798724	4705759	129146136	624	11216											
AKAP3	10566	broad.mit.edu	37	chr12	4737844	4737844	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agaaacctttgtgtgggtctCctgagttggacgtttcccca	7	13	11	10	1	1	2	0	1	1	1	3	3	2	3	4	2	1	2	4	2	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:4737844C>G	ENST00000545990.2	-	5	748	c.224G>C	c.(223-225)gGa>gCa	p.G75A	AKAP3_ENST00000228850.1_Missense_Mutation_p.G75A	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	75					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTGTGGGTCTCCTGAGTTGGA	0.488													46	92					0	0	0	0	G	4737844	C	G	4737844	3	3	58	1	0	0	0	0	1	0	0	0	452	855	30	2	2345	2	AKAP3	12	4737844	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	32085	4737844	129114051	625	11217											
GNB3	2784	broad.mit.edu	37	chr12	6952355	6952355	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctgctggtaagtgcctCgcaagatgggaagctgatcg	9	8	15	9	2	0	2	0	1	0	1	2	3	0	3	1	3	3	5	1	3	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:6952355C>A	ENST00000229264.3	+	6	626	c.221C>A	c.(220-222)tCg>tAg	p.S74*	GNB3_ENST00000435982.2_Nonsense_Mutation_p.S74*	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	74					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GTAAGTGCCTCGCAAGATGGG	0.612													45	145					2.38262e-10	2.4856e-10	1	0	A	6952355	C	A	6952355	4	1	58	1	0	0	0	0	0	1	0	0	6570	893	31	3	235	3	GNB3	12	6952355	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2214511	6952355	126899540	626	11218											
RIMKLB	57494	broad.mit.edu	37	chr12	8906664	8906664	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttacgttgttcaacagatggGagaatgcaaagcaactgctc	13	10	10	8	1	1	2	1	0	0	2	2	3	1	2	0	1	6	5	0	1	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:8906664G>C	ENST00000357529.3	+	6	1934	c.672G>C	c.(670-672)ggG>ggC	p.G224G	RIMKLB_ENST00000535829.1_Silent_p.G224G|RIMKLB_ENST00000538135.1_Silent_p.G224G|RIMKLB_ENST00000299673.5_3'UTR	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	224	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAACAGATGGGAGAATGCAAA	0.383													37	110					0	0	0	0	C	8906664	G	C	8906664	2	2	58	1	0	0	0	0	0	0	0	1	13451	1161	41	2		2	RIMKLB	12	8906664	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1954309	8906664	124945231	627	11219											
A2M	2	broad.mit.edu	37	chr12	9227270	9227270	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggctgggccgtgagataagcGaggagcacataggatgtcat	11	7	16	7	2	1	1	1	1	0	1	1	5	1	3	1	4	2	2	1	4	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:9227270G>C	ENST00000318602.7	-	29	3949	c.3642C>G	c.(3640-3642)ctC>ctG	p.L1214L		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1214					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGAGATAAGCGAGGAGCACAT	0.587													12	38					0	0	0	0	C	9227270	G	C	9227270	2	2	58	1	0	0	0	0	0	0	0	1	4	1045	37	3		3	A2M	12	9227270	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	320606	9227270	124624625	628	11220											
A2M	2	broad.mit.edu	37	chr12	9251338	9251338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagactttgtgatgggctGaagctcaaatccacctgtga	10	10	13	8	0	1	4	1	3	0	1	2	5	2	4	2	2	1	2	2	2	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:9251338G>C	ENST00000318602.7	-	15	2023	c.1716C>G	c.(1714-1716)ttC>ttG	p.F572L		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	572					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GTGATGGGCTGAAGCTCAAAT	0.532													3	16					0	0	0	0	C	9251338	G	C	9251338	3	2	58	1	0	0	0	0	1	0	0	0	4	1281	45	2	2796	2	A2M	12	9251338	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	24068	9251338	124600557	629	11221											
KLRB1	3820	broad.mit.edu	37	chr12	9751250	9751250	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttaagagacccggtctctCtaaagtaaaaaacagaaata	18	9	7	7	1	2	2	0	0	2	2	3	3	2	2	1	1	1	2	1	1	8	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:9751250C>G	ENST00000229402.3	-	4	306		c.e4-1			NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1						cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						CCCGGTCTCTCTAAAGTAAAA	0.378													50	112					0	0	0	0	G	9751250	C	G	9751250	5	3	58	1	0	0	0	0	0	0	1	0	8466	927	32	2	429	2	KLRB1	12	9751250	Splice_Site	SNP	C	TCGA-CN-4723-01A-01D-1434-08	499912	9751250	124100645	630	11222											
CLEC1A	51267	broad.mit.edu	37	chr12	10251525	10251525	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgtacttggcctgcatctgGattcctacagcggtgagagt	7	12	12	10	1	1	1	0	1	1	1	2	3	2	2	2	3	4	2	2	3	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10251525G>C	ENST00000315330.4	-	0	59				CLEC1A_ENST00000420265.2_De_novo_Start_InFrame|CLEC1A_ENST00000457018.2_De_novo_Start_InFrame	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CCTGCATCTGGATTCCTACAG	0.552													14	14					0	0	0	0	C	10251525	G	C	10251525	1	2	58	1	0	0	0	0	0	0	0	0	3535	1189	41	2		2	CLEC1A	12	10251525	Translation_Start_Site	SNP	G	TCGA-CN-4723-01A-01D-1434-08	500275	10251525	123600370	631	11223											
STYK1	55359	broad.mit.edu	37	chr12	10783759	10783759	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctccagaacttcagagagTtgctcccgcggcacctgcag	8	8	11	14	2	1	2	1	0	0	2	3	3	3	2	3	1	4	5	3	1	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10783759T>C	ENST00000075503.3	-	5	856	c.336A>G	c.(334-336)caA>caG	p.Q112Q		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	112						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CTTCAGAGAGTTGCTCCCGCG	0.527										HNSCC(73;0.22)			31	96					0	0	0	0	C	10783759	T	C	10783759	2	2	58	1	0	0	0	0	0	0	0	1	15449	1722	60	5		5	STYK1	12	10783759	Silent	SNP	T	TCGA-CN-4723-01A-01D-1434-08	532234	10783759	123068136	632	11224											
TAS2R8	50836	broad.mit.edu	37	chr12	10959018	10959018	+	Missense_Mutation	SNP	G	G	T																															aaatgggacaattgcaaacaGgttaaagagagtcaagggtt																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10959018G>T	ENST00000240615.2	-	1	874	c.562C>A	c.(562-564)Ctg>Atg	p.L188M		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	188					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATTGCAAACAGGTTAAAGAGA	0.333													22	87					1.28384e-07	1.32696e-07	1	0	T	10959018	G	T	10959018	3	4	58	1	0	0	0	0	1	0	0	0	15678	991	35	4	370	4	TAS2R8	12	10959018	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	175259	10959018	122892877	633	11225	96	2									
TAS2R8	50836	broad.mit.edu	37	chr12	10959027	10959027	+	Missense_Mutation	SNP	G	G	C																															aattgcaaacaggttaaagaGagtcaagggttcaaagtatg																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10959027G>C	ENST00000240615.2	-	1	865	c.553C>G	c.(553-555)Ctc>Gtc	p.L185V		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	185					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGGTTAAAGAGAGTCAAGGGT	0.323													19	82					0	0	0	0	C	10959027	G	C	10959027	3	2	58	1	0	0	0	0	1	0	0	0	15678	942	33	2	379	2	TAS2R8	12	10959027	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	9	10959027	122892868	634	11226	96	2									
TAS2R8	50836	broad.mit.edu	37	chr12	10959148	10959148	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actattgctgctataaggctGaccaacaaggaaatggcaaa	16	8	9	8	0	0	1	0	1	0	0	0	2	0	2	1	3	3	4	1	3	7	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10959148G>C	ENST00000240615.2	-	1	744	c.432C>G	c.(430-432)gtC>gtG	p.V144V		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	144					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTATAAGGCTGACCAACAAGG	0.403													21	87					0	0	0	0	C	10959148	G	C	10959148	2	2	58	1	0	0	0	0	0	0	0	1	15678	1277	45	2		2	TAS2R8	12	10959148	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	121	10959148	122892747	635	11227											
ETV6	2120	broad.mit.edu	37	chr12	12022535	12022535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgatccgccgcctctcccCggctgagagagctcagggac	7	6	12	16	3	2	3	1	2	1	1	4	5	3	4	5	2	1	2	5	2	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:12022535C>A	ENST00000396373.4	+	5	915	c.641C>A	c.(640-642)cCg>cAg	p.P214Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	214						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CGCCTCTCCCCGGCTGAGAGA	0.637			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								4	232					0.150653	0.152136	1	0	A	12022535	C	A	12022535	3	1	58	1	0	0	0	0	1	0	0	0	5321	652	23	3	659	3	ETV6	12	12022535	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1063387	12022535	121829360	636	11228											
BCL2L14	79370	broad.mit.edu	37	chr12	12291889	12291889	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcttctcagaacacaattaGaaaaaatgactgactcaccc	16	8	6	11	0	2	4	2	2	1	2	3	4	2	4	1	1	1	1	1	1	6	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:12291889G>C	ENST00000396369.1	+	6	1026	c.831G>C	c.(829-831)taG>taC	p.*277Y	LRP6_ENST00000543091.1_Intron|LRP6_ENST00000261349.4_Intron			Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	0					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		AACACAATTAGAAAAAATGAC	0.453													11	17					0	0	0	0	C	12291889	G	C	12291889	4	2	58	1	0	0	0	0	0	0	0	0	1376	957	33	2		2	BCL2L14	12	12291889	Nonstop_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	269354	12291889	121560006	637	11229											
GUCY2C	2984	broad.mit.edu	37	chr12	14769618	14769618	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaactggcactcagttctCttcaggatggctatggtgga	9	11	13	8	0	3	0	2	0	1	0	4	3	3	3	0	6	1	3	0	6	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:14769618C>G	ENST00000261170.3	-	25	3055	c.2919G>C	c.(2917-2919)aaG>aaC	p.K973N	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	973					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACTCAGTTCTCTTCAGGATGG	0.428													67	208					0	0	0	0	G	14769618	C	G	14769618	3	3	58	1	0	0	0	0	1	0	0	0	6946	912	32	2	314	2	GUCY2C	12	14769618	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2477729	14769618	119082277	638	11230											
SLCO1B3	28234	broad.mit.edu	37	chr12	21054307	21054307	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaattctagctccaatatatTttggggctctgattgataaa	12	15	8	6	0	2	2	0	2	2	0	3	3	3	2	1	2	1	2	1	2	7	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:21054307T>G	ENST00000381545.3	+	15	1990	c.1771T>G	c.(1771-1773)Ttt>Gtt	p.F591V	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F591V|LST3_ENST00000540229.1_Missense_Mutation_p.F591V|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.F591V|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	591					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TCCAATATATTTTGGGGCTCT	0.378													71	169					0	0	0	0	G	21054307	T	G	21054307	3	3	58	1	0	0	0	0	1	0	0	0	14812	1841	64	5	1821	5	SLCO1B3	12	21054307	Missense_Mutation	SNP	T	TCGA-CN-4723-01A-01D-1434-08	6284689	21054307	112797588	639	11231											
CASC1	55259	broad.mit.edu	37	chr12	25267694	25267694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtacggcatgttaatatGagcatcttgaatcaaggtaa	13	12	10	6	1	2	2	1	2	1	0	2	2	2	2	0	3	2	5	0	3	6	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:25267694G>C	ENST00000354189.5	-	13	1716	c.1681C>G	c.(1681-1683)Cat>Gat	p.H561D	CASC1_ENST00000537577.1_Missense_Mutation_p.H385D|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000320267.9_Missense_Mutation_p.H497D|CASC1_ENST00000545133.1_Missense_Mutation_p.H438D|CASC1_ENST00000395987.3_Missense_Mutation_p.H503D|CASC1_ENST00000395990.2_Missense_Mutation_p.H457D	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	497										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATGTTAATATGAGCATCTTGA	0.378													41	112					0	0	0	0	C	25267694	G	C	25267694	3	2	58	1	0	0	0	0	1	0	0	0	2685	1290	45	2	677	2	CASC1	12	25267694	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4213387	25267694	108584201	640	11232											
DDX11	1663	broad.mit.edu	37	chr12	31237969	31237969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatgctagagacaggcccgGaggctgagcggctggagcag	10	4	18	9	2	0	3	0	1	0	2	0	6	0	5	1	5	3	4	1	5	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:31237969G>A	ENST00000251758.5	+	5	798	c.547G>A	c.(547-549)Gag>Aag	p.E183K	DDX11_ENST00000407793.2_Missense_Mutation_p.E183K|DDX11_ENST00000542838.1_Missense_Mutation_p.E183K|DDX11_ENST00000228264.6_Missense_Mutation_p.E157K|DDX11_ENST00000545668.1_Missense_Mutation_p.E183K|DDX11_ENST00000350437.4_Missense_Mutation_p.E183K			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	183	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	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)					GACAGGCCCGGAGGCTGAGCG	0.597										Multiple Myeloma(12;0.14)			7	18					0	0	0	0	A	31237969	G	A	31237969	3	1	58	1	0	0	0	0	1	0	0	0	4375	1175	41	2	561	2	DDX11	12	31237969	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	5970275	31237969	102613926	641	11233											
SYT10	341359	broad.mit.edu	37	chr12	33592455	33592455	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtcctccttgtggaaactCatcgtttggcttttctttcg	4	17	8	12	3	2	0	1	0	1	0	6	1	4	1	3	2	1	2	3	2	1	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:33592455C>T	ENST00000228567.3	-	1	299	c.3G>A	c.(1-3)atG>atA	p.M1I	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	1						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TGTGGAAACTCATCGTTTGGC	0.542													78	234					0	0	0	0	T	33592455	C	T	33592455	1	4	58	1	0	0	0	0	0	0	0	0	15557	826	29	2		2	SYT10	12	33592455	Translation_Start_Site	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2354486	33592455	100259440	642	11234											
KIF21A	55605	broad.mit.edu	37	chr12	39713804	39713804	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttttttctgatagagatGactgcctggaactaaagtaa	12	16	8	5	0	1	3	0	2	1	1	1	5	1	4	1	1	2	1	1	1	5	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:39713804G>C	ENST00000395670.3	-	27	4102	c.3683C>G	c.(3682-3684)tCa>tGa	p.S1228*	KIF21A_ENST00000544797.2_Nonsense_Mutation_p.S1208*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.S1192*|KIF21A_ENST00000361418.5_Nonsense_Mutation_p.S1228*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.S1215*|KIF21A_ENST00000547745.1_5'UTR			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1228					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGATAGAGATGACTGCCTGGA	0.328													11	53					0	0	0	0	C	39713804	G	C	39713804	4	2	58	1	0	0	0	0	0	1	0	0	8339	1294	45	2	1385	2	KIF21A	12	39713804	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	6121349	39713804	94138091	643	11235											
PDZRN4	29951	broad.mit.edu	37	chr12	41966788	41966788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtctgacaaggacagttCtagtgcttacaacacagctg	14	9	9	9	0	2	1	0	1	2	0	2	2	2	2	0	1	4	3	0	1	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:41966788C>T	ENST00000298919.7	+	10	1815	c.1427C>T	c.(1426-1428)tCt>tTt	p.S476F	PDZRN4_ENST00000402685.2_Missense_Mutation_p.S736F|PDZRN4_ENST00000539469.2_Missense_Mutation_p.S478F			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	736	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAGGACAGTTCTAGTGCTTAC	0.473													35	115					0	0	0	0	T	41966788	C	T	41966788	3	4	58	1	0	0	0	0	1	0	0	0	11781	913	32	2	2318	2	PDZRN4	12	41966788	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2252984	41966788	91885107	644	11236											
TMEM117	84216	broad.mit.edu	37	chr12	44605135	44605135	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaaatcagcaagagctttCtggaagaaaggaaatgttag	17	8	12	4	0	2	2	1	0	1	2	2	5	2	5	0	3	2	3	0	3	7	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:44605135C>G	ENST00000266534.3	+	5	700	c.573C>G	c.(571-573)ttC>ttG	p.F191L	TMEM117_ENST00000536799.1_Missense_Mutation_p.F87L|TMEM117_ENST00000551577.1_Missense_Mutation_p.F191L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	191						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAAGAGCTTTCTGGAAGAAAG	0.393													3	124					0	0	0	0	G	44605135	C	G	44605135	3	3	58	1	0	0	0	0	1	0	0	0	16125	912	32	2	587	2	TMEM117	12	44605135	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2638347	44605135	89246760	645	11237											
DDN	23109	broad.mit.edu	37	chr12	49391866	49391866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctttgtgcgccctccgtCtgtcctggctggagtcgcag	2	13	12	14	3	2	0	0	0	2	0	5	1	4	1	3	2	1	2	3	2	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:49391866C>T	ENST00000421952.2	-	2	814	c.793G>A	c.(793-795)Gac>Aac	p.D265N		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	265						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CGCCCTCCGTCTGTCCTGGCT	0.637													32	97					0	0	0	0	T	49391866	C	T	49391866	3	4	58	1	0	0	0	0	1	0	0	0	4365	913	32	2	1346	2	DDN	12	49391866	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4786731	49391866	84460029	646	11238											
KCNH3	23416	broad.mit.edu	37	chr12	49942877	49942877	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttcgcactcagcagcctCaccagcgtgggcttcggcaa	8	8	10	15	3	2	0	2	0	0	0	4	0	2	0	2	2	4	4	2	2	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:49942877C>T	ENST00000257981.6	+	8	1649	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	463					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TCAGCAGCCTCACCAGCGTGG	0.682													19	43					0	0	0	0	T	49942877	C	T	49942877	2	4	58	1	0	0	0	0	0	0	0	1	8086	813	29	2		2	KCNH3	12	49942877	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	551011	49942877	83909018	647	11239											
DIP2B	57609	broad.mit.edu	37	chr12	51116990	51116990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctttgtcttgcaggcattGagttaatcgccgccttctat	6	16	8	11	2	2	1	0	1	2	0	4	1	3	1	3	1	1	3	3	1	2	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:51116990G>C	ENST00000301180.5	+	27	3206	c.3172G>C	c.(3172-3174)Gag>Cag	p.E1058Q		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1058						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGCAGGCATTGAGTTAATCGC	0.498													48	171					0	0	0	0	C	51116990	G	C	51116990	3	2	58	1	0	0	0	0	1	0	0	0	4565	1291	45	2	3278	2	DIP2B	12	51116990	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1174113	51116990	82734905	648	11240											
SLC4A8	9498	broad.mit.edu	37	chr12	51890879	51890879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaaaagaagaagttggatGatgccaaaaagaaggccaag	20	4	12	5	0	0	4	0	1	0	3	0	5	0	5	2	2	1	2	2	2	8	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:51890879G>A	ENST00000453097.2	+	22	3269	c.3052G>A	c.(3052-3054)Gat>Aat	p.D1018N	SLC4A8_ENST00000358657.3_Missense_Mutation_p.D1045N	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	1018					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAAGTTGGATGATGCCAAAAA	0.453													32	118					0	0	0	0	A	51890879	G	A	51890879	3	1	58	1	0	0	0	0	1	0	0	0	14747	1290	45	2	3138	2	SLC4A8	12	51890879	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	773889	51890879	81961016	649	11241											
HOXC4	3221	broad.mit.edu	37	chr12	54448756	54448756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacccgaaggagaaggatcGagatcgcccactcgctgtgc	10	6	13	12	4	0	3	0	1	0	2	3	7	0	4	2	2	1	1	2	2	2	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:54448756G>A	ENST00000430889.2	+	2	608	c.562G>A	c.(562-564)Gag>Aag	p.E188K	HOXC4_ENST00000303406.4_Missense_Mutation_p.E188K	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	188						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GAGAAGGATCGAGATCGCCCA	0.532													19	41					0	0	0	0	A	54448756	G	A	54448756	3	1	58	1	0	0	0	0	1	0	0	0	7363	1059	37	1	568	1	HOXC4	12	54448756	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2557877	54448756	79403139	650	11242											
OR9K2	441639	broad.mit.edu	37	chr12	55524495	55524495	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatcctttgatttactctCtgaggaacaaagatgtccaa	13	13	7	8	0	1	4	0	3	1	1	4	5	3	5	2	1	2	0	2	1	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:55524495C>G	ENST00000305377.5	+	1	1031	c.943C>G	c.(943-945)Ctg>Gtg	p.L315V		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GATTTACTCTCTGAGGAACAA	0.343													69	170					0	0	0	0	G	55524495	C	G	55524495	3	3	58	1	0	0	0	0	1	0	0	0	11325	912	32	2	945	2	OR9K2	12	55524495	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1075739	55524495	78327400	651	11243											
OR6C3	254786	broad.mit.edu	37	chr12	55726127	55726127	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcattagtgattttatctTacatgtacattatcaggacc	11	16	7	7	0	2	1	1	1	1	0	2	2	2	2	1	2	2	2	1	2	5	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:55726127T>C	ENST00000379667.1	+	1	643	c.643T>C	c.(643-645)Tac>Cac	p.Y215H		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GATTTTATCTTACATGTACAT	0.363													76	193					0	0	0	0	C	55726127	T	C	55726127	3	2	58	1	0	0	0	0	1	0	0	0	11263	1754	61	5	645	5	OR6C3	12	55726127	Missense_Mutation	SNP	T	TCGA-CN-4723-01A-01D-1434-08	201632	55726127	78125768	652	11244											
ERBB3	2065	broad.mit.edu	37	chr12	56495415	56495415	+	Missense_Mutation	SNP	G	G	A																															ggagtatgaatacatgaaccGgaggagaaggcacagtccac																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:56495415G>A	ENST00000267101.3	+	28	4045	c.3605G>A	c.(3604-3606)cGg>cAg	p.R1202Q	ERBB3_ENST00000549832.1_Missense_Mutation_p.R322Q|ERBB3_ENST00000450146.2_Missense_Mutation_p.R559Q|ERBB3_ENST00000415288.2_Missense_Mutation_p.R1143Q|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000553131.1_Missense_Mutation_p.R443Q	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1202					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TACATGAACCGGAGGAGAAGG	0.537													38	88					0	0	0	0	A	56495415	G	A	56495415	3	1	58	1	0	0	0	0	1	0	0	0	5246	1116	39	1	3846	1	ERBB3	12	56495415	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	769288	56495415	77356480	653	11245	97	2									
ERBB3	2065	broad.mit.edu	37	chr12	56495416	56495416	+	Silent	SNP	G	G	C																															gagtatgaatacatgaaccgGaggagaaggcacagtccacc																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:56495416G>C	ENST00000267101.3	+	28	4046	c.3606G>C	c.(3604-3606)cgG>cgC	p.R1202R	ERBB3_ENST00000549832.1_Silent_p.R322R|ERBB3_ENST00000450146.2_Silent_p.R559R|ERBB3_ENST00000415288.2_Silent_p.R1143R|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000553131.1_Silent_p.R443R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1202					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACATGAACCGGAGGAGAAGGC	0.542													37	87					0	0	0	0	C	56495416	G	C	56495416	2	2	58	1	0	0	0	0	0	0	0	1	5246	1161	41	2		2	ERBB3	12	56495416	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1	56495416	77356479	654	11246	97	2									
LRP1	4035	broad.mit.edu	37	chr12	57601825	57601825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggcttccattcagatttCagggctgaagatgcccagag	9	11	12	9	0	2	4	2	1	0	3	3	4	3	4	2	2	1	2	2	2	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:57601825C>T	ENST00000243077.3	+	77	12330	c.11864C>T	c.(11863-11865)tCa>tTa	p.S3955L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3955					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATTCAGATTTCAGGGCTGAAG	0.602													13	27					0	0	0	0	T	57601825	C	T	57601825	3	4	58	1	0	0	0	0	1	0	0	0	9015	838	29	2	12170	2	LRP1	12	57601825	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1106409	57601825	76250070	655	11247											
XPOT	11260	broad.mit.edu	37	chr12	64818849	64818849	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacacggtttatggaagttGaagtagcaataagattgctg	13	12	11	5	1	0	2	0	1	0	1	0	3	0	3	0	2	3	5	0	2	7	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:64818849G>T	ENST00000332707.5	+	13	1868	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	447	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TATGGAAGTTGAAGTAGCAAT	0.383													61	143					2.73361e-28	2.93893e-28	1	0	T	64818849	G	T	64818849	4	4	58	1	0	0	0	0	0	1	0	0	17546	1291	45	2	1385	2	XPOT	12	64818849	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	7217024	64818849	69033046	656	11248											
ZDHHC17	23390	broad.mit.edu	37	chr12	77216299	77216299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtccttccttagaaagctGaaagctgataaggtaaactc	13	10	8	10	1	0	3	0	2	0	1	3	3	2	3	3	1	3	3	3	1	6	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:77216299G>A	ENST00000426126.2	+	8	1534	c.885G>A	c.(883-885)ctG>ctA	p.L295L	ZDHHC17_ENST00000334822.5_Silent_p.L295L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	295					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTAGAAAGCTGAAAGCTGATA	0.398													7	21					0	0	0	0	A	77216299	G	A	77216299	2	1	58	1	0	0	0	0	0	0	0	1	17702	1277	45	2		2	ZDHHC17	12	77216299	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	12397450	77216299	56635596	657	11249											
PPP1R12A	4659	broad.mit.edu	37	chr12	80239130	80239130	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcttccattgcctcctcctCcgcaatatctaaaggtgtat	8	14	5	14	1	2	0	0	0	2	0	6	0	6	0	5	1	1	2	5	1	5	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:80239130C>G	ENST00000450142.2	-	3	705	c.439G>C	c.(439-441)Gag>Cag	p.E147Q	PPP1R12A_ENST00000550107.1_Missense_Mutation_p.E147Q|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.E60Q|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.E147Q|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.E147Q	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	147						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GCCTCCTCCTCCGCAATATCT	0.373													13	35					0	0	0	0	G	80239130	C	G	80239130	3	3	58	1	0	0	0	0	1	0	0	0	12430	864	30	2	2745	2	PPP1R12A	12	80239130	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3022831	80239130	53612765	658	11250											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450043	85450043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgaaaacctagcaaaaaaacGatgttcagaagaattggtca	19	8	8	6	1	2	3	2	1	0	2	2	4	2	3	1	1	3	2	1	1	8	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:85450043G>C	ENST00000393217.2	+	8	1533	c.1472G>C	c.(1471-1473)cGa>cCa	p.R491P		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	491										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCAAAAAAACGATGTTCAGAA	0.289													16	62					0	0	0	0	C	85450043	G	C	85450043	3	2	58	1	0	0	0	0	1	0	0	0	9093	1058	37	3	1498	3	LRRIQ1	12	85450043	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	5210913	85450043	48401852	659	11251											
USP44	84101	broad.mit.edu	37	chr12	95927813	95927813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaacaaaaaacgtacatctCattcacctccaatgcaacag	17	8	4	12	1	2	0	2	0	1	0	4	0	3	0	2	0	5	3	2	0	7	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:95927813C>T	ENST00000258499.3	-	2	508	c.220G>A	c.(220-222)Gag>Aag	p.E74K	USP44_ENST00000537435.2_Missense_Mutation_p.E74K|USP44_ENST00000393091.2_Missense_Mutation_p.E74K|USP44_ENST00000552440.1_Missense_Mutation_p.E74K	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	74					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ACGTACATCTCATTCACCTCC	0.408											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	82					0	0	0	0	T	95927813	C	T	95927813	3	4	58	1	0	0	0	0	1	0	0	0	17171	835	29	2	1938	2	USP44	12	95927813	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	10477770	95927813	37924082	660	11252											
AMDHD1	144193	broad.mit.edu	37	chr12	96348697	96348697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tattgattataggtttggtgGatgcacacacacatccagta	12	13	9	7	0	0	1	0	1	0	0	1	2	1	2	1	3	1	3	1	3	4	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:96348697G>A	ENST00000266736.2	+	3	359	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	85					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						AGGTTTGGTGGATGCACACAC	0.393													28	78					0	0	0	0	A	96348697	G	A	96348697	3	1	58	1	0	0	0	0	1	0	0	0	567	1174	41	2	263	2	AMDHD1	12	96348697	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	420884	96348697	37503198	661	11253											
TMPO	7112	broad.mit.edu	37	chr12	98926775	98926775	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctaagaaagtacatacttCtaagggagacctacctaggg	15	8	10	8	0	1	2	0	0	1	2	1	3	1	2	2	2	4	2	2	2	7	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:98926775C>G	ENST00000266732.4	+	4	978	c.740C>G	c.(739-741)tCt>tGt	p.S247C	TMPO_ENST00000261210.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000343315.5_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTACATACTTCTAAGGGAGAC	0.468													4	174					0	0	0	0	G	98926775	C	G	98926775	3	3	58	1	0	0	0	0	1	0	0	0	16331	913	32	2	754	2	TMPO	12	98926775	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2578078	98926775	34925120	662	11254											
APAF1	317	broad.mit.edu	37	chr12	99077046	99077046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgggtcaagtgactgcttCctcaaagtaagtgtggatat	11	12	11	7	0	2	1	2	1	0	0	3	2	3	2	1	2	1	2	1	2	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:99077046C>A	ENST00000357310.1	+	15	2749	c.2172C>A	c.(2170-2172)ttC>ttA	p.F724L	APAF1_ENST00000550527.1_Missense_Mutation_p.F713L|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.F724L|APAF1_ENST00000547045.1_Missense_Mutation_p.F724L|APAF1_ENST00000551964.1_Missense_Mutation_p.F724L|APAF1_ENST00000359972.2_Missense_Mutation_p.F713L|APAF1_ENST00000339433.3_Missense_Mutation_p.F724L|APAF1_ENST00000333991.1_Intron	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	724					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GTGACTGCTTCCTCAAAGTAA	0.378													64	184					1.35869e-18	1.44309e-18	1	0	A	99077046	C	A	99077046	3	1	58	1	0	0	0	0	1	0	0	0	756	854	30	2	2226	2	APAF1	12	99077046	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	150271	99077046	34774849	663	11255											
UTP20	27340	broad.mit.edu	37	chr12	101767494	101767494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggtaaaatcagcctcgaGaaaaaagattggctgtttga	14	11	10	6	1	1	3	1	1	0	2	2	4	1	3	1	2	1	3	1	2	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:101767494G>C	ENST00000261637.4	+	54	7254	c.7080G>C	c.(7078-7080)gaG>gaC	p.E2360D		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2360					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCAGCCTCGAGAAAAAAGATT	0.423													39	75					0	0	0	0	C	101767494	G	C	101767494	3	2	58	1	0	0	0	0	1	0	0	0	17195	933	33	2	7294	2	UTP20	12	101767494	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2690448	101767494	32084401	664	11256											
MYBPC1	4604	broad.mit.edu	37	chr12	102036216	102036216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggaggtgaagcagcaggagGaagaaccccaggtggacgta	13	3	18	7	1	0	2	0	1	0	1	0	6	0	6	2	6	3	3	2	6	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:102036216G>A	ENST00000549145.1	+	10	749	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	MYBPC1_ENST00000536007.1_Missense_Mutation_p.E185K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E204K|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E204K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E191K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E204K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E190K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E204K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E229K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E204K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E105K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E229K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E192K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E178K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E204K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	204				A -> T (in Ref. 1; CAA46987).	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						GCAGCAGGAGGAAGAACCCCA	0.532													9	29					0	0	0	0	A	102036216	G	A	102036216	3	1	58	1	0	0	0	0	1	0	0	0	10081	1175	41	2	727	2	MYBPC1	12	102036216	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	268722	102036216	31815679	665	11257											
CCDC53	51019	broad.mit.edu	37	chr12	102439861	102439861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaatattgagagttgtttCaatttgttggatacgaagtg	13	16	10	2	1	1	1	1	1	0	1	1	4	1	2	0	1	1	3	0	1	6	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:102439861C>G	ENST00000240079.6	-	3	348	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Missense_Mutation_p.E63Q	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	63						WASH complex	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						AGAGTTGTTTCAATTTGTTGG	0.284													3	13					0	0	0	0	G	102439861	C	G	102439861	3	3	58	1	0	0	0	0	1	0	0	0	2850	835	29	2	348	2	CCDC53	12	102439861	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	403645	102439861	31412034	666	11258											
ALDH1L2	160428	broad.mit.edu	37	chr12	105420410	105420410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttaataaaaacagttcCtgcttccagtttttcactca	11	16	5	9	0	2	0	2	0	0	0	4	0	4	0	2	0	2	4	2	0	4	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:105420410C>T	ENST00000258494.9	-	22	2769	c.2629G>A	c.(2629-2631)Gga>Aga	p.G877R	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	877	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						AAAACAGTTCCTGCTTCCAGT	0.413													6	288					0	0	0	0	T	105420410	C	T	105420410	3	4	58	1	0	0	0	0	1	0	0	0	495	690	24	4	150	4	ALDH1L2	12	105420410	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2980549	105420410	28431485	667	11259											
PRDM4	11108	broad.mit.edu	37	chr12	108134781	108134781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactaaaagccttgctacaGaaatcacacttgtggggctt	12	11	8	10	0	2	1	2	0	0	1	2	1	2	1	1	2	3	2	1	2	4	5	rs145990889		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:108134781G>A	ENST00000228437.5	-	10	2325	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	622					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						CCTTGCTACAGAAATCACACT	0.458													79	187					0	0	0	0	A	108134781	G	A	108134781	2	1	58	1	0	0	0	0	0	0	0	1	12539	933	33	2		2	PRDM4	12	108134781	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2714371	108134781	25717114	668	11260											
TCTN1	79600	broad.mit.edu	37	chr12	111082789	111082789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactgactggagctctccCgtgtcagctcgtagcacaga	10	8	11	12	2	2	3	1	1	1	2	4	4	2	4	1	1	3	4	1	1	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:111082789C>T	ENST00000551590.1	+	12	1505	c.1349C>T	c.(1348-1350)cCg>cTg	p.P450L	TCTN1_ENST00000397655.3_Missense_Mutation_p.P436L|TCTN1_ENST00000397659.4_Missense_Mutation_p.P450L|TCTN1_ENST00000377654.3_Silent_p.P196P|HVCN1_ENST00000548312.1_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	450					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						GGAGCTCTCCCGTGTCAGCTC	0.517													46	147					0	0	0	0	T	111082789	C	T	111082789	3	4	58	1	0	0	0	0	1	0	0	0	15816	652	23	1	1567	1	TCTN1	12	111082789	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2948008	111082789	22769106	669	11261											
HVCN1	84329	broad.mit.edu	37	chr12	111099112	111099112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggtgtgggtggtggctgctCctcctcctcctcctcctctt	0	15	11	15	0	1	0	0	0	1	0	7	0	7	0	6	4	1	2	6	4	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:111099112C>T	ENST00000356742.5	-	3	916	c.163G>A	c.(163-165)Gag>Aag	p.E55K	HVCN1_ENST00000439744.2_Missense_Mutation_p.E35K|HVCN1_ENST00000242607.8_Missense_Mutation_p.E55K|HVCN1_ENST00000548312.1_Missense_Mutation_p.E55K			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	55	Poly-Glu.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GGTGGCTGctcctcctcctcc	0.607													19	50					0	0	0	0	T	111099112	C	T	111099112	3	4	58	1	0	0	0	0	1	0	0	0	7515	864	30	2	678	2	HVCN1	12	111099112	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	16323	111099112	22752783	670	11262											
SH2B3	10019	broad.mit.edu	37	chr12	111885521	111885521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcacctccactttccctCggtcgtggacatgctccacc	6	9	8	18	2	0	0	0	0	0	0	5	1	3	1	5	2	2	3	5	2	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:111885521C>T	ENST00000341259.2	+	7	1655	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	SH2B3_ENST00000538307.1_Missense_Mutation_p.S231L	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	433	SH2.				blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						CACTTTCCCTCGGTCGTGGAC	0.667													31	71					0	0	0	0	T	111885521	C	T	111885521	3	4	58	1	0	0	0	0	1	0	0	0	14316	893	31	1	1320	1	SH2B3	12	111885521	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	786409	111885521	21966374	671	11263											
ACAD10	80724	broad.mit.edu	37	chr12	112140045	112140045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgaaaatgggccctggatGagatttatgagagcagaaat	14	9	14	4	0	0	4	0	3	0	3	0	7	0	5	1	3	1	1	1	3	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:112140045G>A	ENST00000455480.2	+	3	444	c.267G>A	c.(265-267)atG>atA	p.M89I	ACAD10_ENST00000549590.1_Missense_Mutation_p.M89I|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.M89I|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	89							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGCCCTGGATGAGATTTATGA	0.403													70	162					0	0	0	0	A	112140045	G	A	112140045	3	1	58	1	0	0	0	0	1	0	0	0	108	1290	45	2	273	2	ACAD10	12	112140045	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	254524	112140045	21711850	672	11264											
TBX5	6910	broad.mit.edu	37	chr12	114837439	114837439	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaactgggaaacatccgccTaagagagagggacggaggga	14	4	16	7	2	0	2	0	0	0	2	1	7	1	6	2	4	2	1	2	4	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:114837439T>G	ENST00000310346.4	-	4	909		c.e4-2		TBX5_ENST00000526441.1_Splice_Site|TBX5_ENST00000405440.2_Splice_Site|TBX5_ENST00000552726.1_Splice_Site|TBX5_ENST00000349716.5_Splice_Site	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5						cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AACATCCGCCTAAGAGAGAGG	0.478													45	125					0	0	0	0	G	114837439	T	G	114837439	5	3	58	1	0	0	0	0	0	0	1	0	15755	1536	53	5	1406	5	TBX5	12	114837439	Splice_Site	SNP	T	TCGA-CN-4723-01A-01D-1434-08	2697394	114837439	19014456	673	11265											
WSB2	55884	broad.mit.edu	37	chr12	118473077	118473077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaagcacacagatctcaGtgagctaatgtggacgtcac	14	7	11	9	1	2	3	2	1	1	2	3	5	2	4	0	1	2	2	0	1	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:118473077G>T	ENST00000315436.3	-	7	1027	c.886C>A	c.(886-888)Ctg>Atg	p.L296M	WSB2_ENST00000544233.1_Missense_Mutation_p.L86M|WSB2_ENST00000542304.1_Missense_Mutation_p.L71M|WSB2_ENST00000441406.2_Missense_Mutation_p.L313M|WSB2_ENST00000535496.1_Missense_Mutation_p.L298M	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	296					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAGATCTCAGTGAGCTAATG	0.537											OREG0022175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	68					9.65021e-13	1.01274e-12	1	0	T	118473077	G	T	118473077	3	4	58	1	0	0	0	0	1	0	0	0	17501	1020	36	4	340	4	WSB2	12	118473077	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3635638	118473077	15378818	674	11266											
PRKAB1	5564	broad.mit.edu	37	chr12	120111803	120111803	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tagccatcctggatctgccgGaaggagagcatcagtacaag	12	7	12	10	1	2	1	1	0	1	1	3	4	3	3	3	3	4	2	3	3	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:120111803G>C	ENST00000229328.5	+	3	850	c.358G>C	c.(358-360)Gaa>Caa	p.E120Q	PRKAB1_ENST00000541640.1_Missense_Mutation_p.E120Q|PRKAB1_ENST00000540121.1_5'UTR	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	120					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	GGATCTGCCGGAAGGAGAGCA	0.567													27	139					0	0	0	0	C	120111803	G	C	120111803	3	2	58	1	0	0	0	0	1	0	0	0	12575	1175	41	2	368	2	PRKAB1	12	120111803	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1638726	120111803	13740092	675	11267											
OASL	8638	broad.mit.edu	37	chr12	121469368	121469368	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggaccaccgcaggccttGatcaggctcacatagacctc	10	6	9	16	1	2	2	2	1	0	1	3	3	2	3	5	3	0	2	5	3	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:121469368G>C	ENST00000257570.5	-	3	804	c.534C>G	c.(532-534)atC>atG	p.I178M	OASL_ENST00000339275.5_Missense_Mutation_p.I178M	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	178					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGCAGGCCTTGATCAGGCTCA	0.557													45	86					0	0	0	0	C	121469368	G	C	121469368	3	2	58	1	0	0	0	0	1	0	0	0	10873	1280	45	2	1026	2	OASL	12	121469368	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1357565	121469368	12382527	676	11268											
DNAH10	196385	broad.mit.edu	37	chr12	124325980	124325980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagtttcggaagatcttgCgggctgaagggcgcgtggag	7	9	19	6	4	1	2	0	1	1	1	2	5	1	5	0	5	1	2	0	5	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:124325980C>T	ENST00000409039.3	+	29	4919	c.4894C>T	c.(4894-4896)Cgg>Tgg	p.R1632W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1632	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R224W(1)|p.R1632W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGATCTTGCGGGCTGAAGG	0.453													5	247					0	0	0	0	T	124325980	C	T	124325980	3	4	58	1	0	0	0	0	1	0	0	0	4635	759	27	1	5008	1	DNAH10	12	124325980	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2856612	124325980	9525915	677	11269											
DHX37	57647	broad.mit.edu	37	chr12	125449160	125449160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaccgagtcccctccggtgGaggcttaaagacctaggatt	10	8	11	12	2	0	1	0	0	0	1	2	4	2	3	5	4	1	1	5	4	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:125449160G>A	ENST00000308736.2	-	15	1923	c.1825C>T	c.(1825-1827)Cca>Tca	p.P609S	DHX37_ENST00000544745.1_Missense_Mutation_p.P396S	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	609	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCCTCCGGTGGAGGCTTAAAG	0.547													19	61					0	0	0	0	A	125449160	G	A	125449160	3	1	58	1	0	0	0	0	1	0	0	0	4547	1174	41	2	1700	2	DHX37	12	125449160	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1123180	125449160	8402735	678	11270											
TMEM132B	114795	broad.mit.edu	37	chr12	126136994	126136994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgacttttcaggtcctctCgccgttgtctgactccatcc	4	14	8	15	2	3	2	1	2	2	0	7	2	6	2	4	1	0	2	4	1	0	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:126136994C>T	ENST00000299308.3	+	8	1915	c.1907C>T	c.(1906-1908)tCg>tTg	p.S636L	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S148L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	636						integral to membrane		p.S636L(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGGTCCTCTCGCCGTTGTCT	0.567													16	32					0	0	0	0	T	126136994	C	T	126136994	3	4	58	1	0	0	0	0	1	0	0	0	16140	893	31	1	1937	1	TMEM132B	12	126136994	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	687834	126136994	7714901	679	11271											
LATS2	26524	broad.mit.edu	37	chr13	21565498	21565498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgtactccagggcggcctCgatgctcctgctgccagtct	5	10	12	14	2	1	0	0	0	1	0	4	2	3	0	4	2	4	3	4	2	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:21565498C>T	ENST00000382592.4	-	3	793	c.388G>A	c.(388-390)Gag>Aag	p.E130K	LATS2_ENST00000542899.1_Missense_Mutation_p.E130K|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	130	UBA.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AGGGCGGCCTCGATGCTCCTG	0.577													15	65					0	0	0	0	T	21565498	C	T	21565498	3	4	58	1	0	0	0	0	1	0	0	0	8700	893	31	1	2902	1	LATS2	13	21565498	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08		21565498	93604380	680	11272											
SKA3	221150	broad.mit.edu	37	chr13	21729931	21729931	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctattggagtagctaggtttGagttgtattttgataaaagc	11	16	11	3	0	0	2	0	2	0	0	0	3	0	3	0	2	2	5	0	2	6	10			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:21729931G>C	ENST00000314759.5	-	8	1263	c.1139C>G	c.(1138-1140)tCa>tGa	p.S380*	SKA3_ENST00000400018.3_Intron	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	380					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCTAGGTTTGAGTTGTATTT	0.333													29	118					0	0	0	0	C	21729931	G	C	21729931	4	2	58	1	0	0	0	0	0	1	0	0	14442	1294	45	2	154	2	SKA3	13	21729931	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	164433	21729931	93439947	681	11273											
RNF17	56163	broad.mit.edu	37	chr13	25374667	25374667	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagacattgttccacagAattcagtaagtgagacttta	15	12	8	6	0	1	4	1	2	0	3	2	5	2	4	1	0	0	2	1	0	4	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:25374667A>C	ENST00000255324.5	+	13	1805	c.1753A>C	c.(1753-1755)Aat>Cat	p.N585H	RNF17_ENST00000255325.5_Missense_Mutation_p.N586H|RNF17_ENST00000381921.1_Missense_Mutation_p.N585H	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	585					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)		TGTTCCACAGAATTCAGTAAG	0.373													4	84					0	0	0	0	C	25374667	A	C	25374667	3	2	58	1	0	0	0	0	1	0	0	0	13546	246	9	5	1803	5	RNF17	13	25374667	Missense_Mutation	SNP	A	TCGA-CN-4723-01A-01D-1434-08	3644736	25374667	89795211	682	11274											
RNF17	56163	broad.mit.edu	37	chr13	25448363	25448363	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatttgttgattatggatCaactgcaaagctgacattaa	15	13	7	6	0	1	2	1	2	0	0	1	3	1	3	0	1	3	3	0	1	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:25448363C>A	ENST00000255324.5	+	33	4611	c.4559C>A	c.(4558-4560)tCa>tAa	p.S1520*	RNF17_ENST00000339524.3_Nonsense_Mutation_p.S530*|RNF17_ENST00000381921.1_Nonsense_Mutation_p.S1478*	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1520	Tudor 4.				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)		GATTATGGATCAACTGCAAAG	0.294													18	86					3.52763e-06	3.63087e-06	1	0	A	25448363	C	A	25448363	4	1	58	1	0	0	0	0	0	1	0	0	13546	838	29	2	4689	2	RNF17	13	25448363	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	73696	25448363	89721515	683	11275											
RNF6	6049	broad.mit.edu	37	chr13	26793630	26793630	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	attatggtctctcataagccGataatcttcatcattgagtt	11	16	6	8	1	5	1	3	1	2	0	6	2	5	1	1	1	1	1	1	1	3	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:26793630G>C	ENST00000381588.4	-	3	909	c.157C>G	c.(157-159)Cgg>Ggg	p.R53G	RNF6_ENST00000399762.2_De_novo_Start_InFrame|RNF6_ENST00000381570.3_Missense_Mutation_p.R53G|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.R53G	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	53					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTCATAAGCCGATAATCTTCA	0.383													4	141					0	0	0	0	C	26793630	G	C	26793630	3	2	58	1	0	0	0	0	1	0	0	0	13583	1057	37	3	1912	3	RNF6	13	26793630	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1345267	26793630	88376248	684	11276											
SLC46A3	283537	broad.mit.edu	37	chr13	29286950	29286950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catattcctaggaaactagtCaaaaaagaggcactacccaa	18	7	6	10	0	1	1	1	0	0	1	2	2	2	2	2	2	2	1	2	2	9	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:29286950C>G	ENST00000266943.6	-	3	1296	c.927G>C	c.(925-927)ttG>ttC	p.L309F	SLC46A3_ENST00000380814.4_Missense_Mutation_p.L309F	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	309					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GGAAACTAGTCAAAAAAGAGG	0.383													30	81					0	0	0	0	G	29286950	C	G	29286950	3	3	58	1	0	0	0	0	1	0	0	0	14734	825	29	2	488	2	SLC46A3	13	29286950	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2493320	29286950	85882928	685	11277											
SLC46A3	283537	broad.mit.edu	37	chr13	29287679	29287679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaaaacgtgacacttttttCtgaacttcctgcaaagaaat	14	14	5	8	1	1	3	0	2	1	1	2	3	2	3	1	0	3	1	1	0	5	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:29287679C>G	ENST00000266943.6	-	3	567	c.198G>C	c.(196-198)caG>caC	p.Q66H	SLC46A3_ENST00000380814.4_Missense_Mutation_p.Q66H	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	66					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		ACACTTTTTTCTGAACTTCCT	0.353													14	35					0	0	0	0	G	29287679	C	G	29287679	3	3	58	1	0	0	0	0	1	0	0	0	14734	912	32	2	1217	2	SLC46A3	13	29287679	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	729	29287679	85882199	686	11278											
KATNAL1	84056	broad.mit.edu	37	chr13	30854258	30854258	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctctaaatggttcatcttGacaggacacagggaaatctg	13	11	9	8	0	4	1	1	1	3	0	5	3	4	3	0	3	0	1	0	3	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:30854258G>C	ENST00000380615.3	-	3	432	c.265C>G	c.(265-267)Caa>Gaa	p.Q89E	KATNAL1_ENST00000380617.3_Missense_Mutation_p.Q89E	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	89						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GGTTCATCTTGACAGGACACA	0.393													18	51					0	0	0	0	C	30854258	G	C	30854258	3	2	58	1	0	0	0	0	1	0	0	0	8038	1299	45	2	1243	2	KATNAL1	13	30854258	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1566579	30854258	84315620	687	11279											
FRY	10129	broad.mit.edu	37	chr13	32776558	32776558	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagaccgggaagtattctCtatggaacacacggcccgct	12	7	10	12	3	1	1	0	0	1	1	2	3	1	3	2	3	1	2	2	3	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:32776558C>G	ENST00000380250.3	+	31	4408	c.3912C>G	c.(3910-3912)ctC>ctG	p.L1304L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAAGTATTCTCTATGGAACAC	0.478													10	126					0	0	0	0	G	32776558	C	G	32776558	2	3	58	1	0	0	0	0	0	0	0	1	6111	900	32	2		2	FRY	13	32776558	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1922300	32776558	82393320	688	11280											
RFC3	5983	broad.mit.edu	37	chr13	34395395	34395395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaattgagaattgaacatCagaccatcacagtaagcatt	19	9	6	7	0	2	3	2	2	0	2	2	4	2	3	1	0	2	2	1	0	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:34395395C>G	ENST00000380071.3	+	2	344	c.214C>G	c.(214-216)Cag>Gag	p.Q72E	RFC3_ENST00000434425.1_Missense_Mutation_p.Q72E	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	72					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		AATTGAACATCAGACCATCAC	0.418													4	127					0	0	0	0	G	34395395	C	G	34395395	3	3	58	1	0	0	0	0	1	0	0	0	13328	827	29	2	220	2	RFC3	13	34395395	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1618837	34395395	80774483	689	11281											
POSTN	10631	broad.mit.edu	37	chr13	38153456	38153456	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatgaaaactcctggtgtCaggtgataaagaatgatgtt	14	11	10	6	0	1	4	1	3	0	1	2	4	2	4	2	2	1	1	2	2	6	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:38153456C>T	ENST00000379747.4	-	13	1818	c.1701G>A	c.(1699-1701)ctG>ctA	p.L567L	POSTN_ENST00000541179.1_Silent_p.L567L|POSTN_ENST00000379743.4_Silent_p.L567L|POSTN_ENST00000541481.1_Silent_p.L567L|POSTN_ENST00000379749.4_Silent_p.L567L|POSTN_ENST00000379742.4_Silent_p.L567L	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	567	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTCCTGGTGTCAGGTGATAAA	0.323													8	127					0	0	0	0	T	38153456	C	T	38153456	2	4	58	1	0	0	0	0	0	0	0	1	12331	813	29	2		2	POSTN	13	38153456	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3758061	38153456	77016422	690	11282											
LHFP	10186	broad.mit.edu	37	chr13	40174981	40174981	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacttacccccaagaaactGaattcctccagccactcttc	11	10	3	17	0	2	2	1	1	1	1	5	2	4	2	5	0	3	0	5	0	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:40174981G>C	ENST00000379589.3	-	2	835	c.373C>G	c.(373-375)Cag>Gag	p.Q125E		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	125						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		CCAAGAAACTGAATTCCTCCA	0.483			T	HMGA2	lipoma								30	76					0	0	0	0	C	40174981	G	C	40174981	3	2	58	1	0	0	0	0	1	0	0	0	8817	1299	45	2	241	2	LHFP	13	40174981	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2021525	40174981	74994897	691	11283											
AKAP11	11215	broad.mit.edu	37	chr13	42872840	42872840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactgatgaagatgatgatGatactaaccagtctgtgtca	13	11	9	8	0	2	6	1	5	1	1	2	6	2	6	2	0	2	0	2	0	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:42872840G>A	ENST00000025301.2	+	7	698	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	175					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGATGATGATGATACTAACCA	0.403													37	106					0	0	0	0	A	42872840	G	A	42872840	3	1	58	1	0	0	0	0	1	0	0	0	447	1290	45	2	541	2	AKAP11	13	42872840	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2697859	42872840	72297038	692	11284											
TSC22D1	8848	broad.mit.edu	37	chr13	45008797	45008797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagccctgcgatgctggctGggcggggggctgtgtggtgc	2	9	21	9	2	0	1	0	1	0	0	0	2	0	1	1	6	4	3	1	6	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:45008797G>T	ENST00000458659.2	-	3	3677	c.3187C>A	c.(3187-3189)Cag>Aag	p.Q1063K	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Missense_Mutation_p.Q134K	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1063					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GATGCTGGCTGGGCGGGGGGC	0.652													6	33					0.00307968	0.00313054	1	0	T	45008797	G	T	45008797	3	4	58	1	0	0	0	0	1	0	0	0	16702	1357	47	4	38	4	TSC22D1	13	45008797	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2135957	45008797	70161081	693	11285											
TSC22D1	8848	broad.mit.edu	37	chr13	45008999	45008999	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttctctgaccgcatacatCaaatggcttttcactagatc	10	14	5	12	1	4	2	2	1	2	1	6	2	4	2	1	1	1	2	1	1	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:45008999C>T	ENST00000458659.2	-	3	3475	c.2985G>A	c.(2983-2985)ttG>ttA	p.L995L	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Silent_p.L66L	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	995					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCGCATACATCAAATGGCTTT	0.378													57	191					0	0	0	0	T	45008999	C	T	45008999	2	4	58	1	0	0	0	0	0	0	0	1	16702	825	29	2		2	TSC22D1	13	45008999	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	202	45008999	70160879	694	11286											
TSC22D1	8848	broad.mit.edu	37	chr13	45149590	45149590	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcccattgatcacaacattCtgttgtggaaggtgaggcaa	11	12	10	8	0	2	2	1	2	1	0	3	3	3	3	1	3	1	2	1	3	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:45149590C>G	ENST00000458659.2	-	1	1111	c.621G>C	c.(619-621)caG>caC	p.Q207H	TSC22D1_ENST00000501704.2_Missense_Mutation_p.Q207H	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	207	His-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCACAACATTCTGTTGTGGAA	0.527													10	33					0	0	0	0	G	45149590	C	G	45149590	3	3	58	1	0	0	0	0	1	0	0	0	16702	912	32	2	2741	2	TSC22D1	13	45149590	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	140591	45149590	70020288	695	11287											
HTR2A	3356	broad.mit.edu	37	chr13	47409577	47409577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttggcccgtgtgccaagatCacttacacacaaagtagctt	11	11	8	11	1	1	1	1	0	0	1	1	1	1	1	2	1	3	2	2	1	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:47409577C>G	ENST00000378688.4	-	3	942	c.811G>C	c.(811-813)Gat>Cat	p.D271H	HTR2A_ENST00000542664.1_Missense_Mutation_p.D271H|HTR2A_ENST00000543956.1_Missense_Mutation_p.D187H			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	271					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTGCCAAGATCACTTACACAC	0.453													26	66					0	0	0	0	G	47409577	C	G	47409577	3	3	58	1	0	0	0	0	1	0	0	0	7494	826	29	2	608	2	HTR2A	13	47409577	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2259987	47409577	67760301	696	11288											
DHRS12	79758	broad.mit.edu	37	chr13	52348132	52348132	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactggagatcattggtgttCagtttctgaaccaacattcc	10	13	9	9	0	3	2	2	1	1	1	4	4	4	2	2	2	2	2	2	2	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:52348132C>T	ENST00000218981.1	-	6	513	c.402G>A	c.(400-402)ctG>ctA	p.L134L	DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000280056.2_Silent_p.L134L|DHRS12_ENST00000444610.2_Silent_p.L183L	NM_024705.2	NP_078981.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	183							binding|oxidoreductase activity			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CATTGGTGTTCAGTTTCTGAA	0.443													33	100					0	0	0	0	T	52348132	C	T	52348132	2	4	58	1	0	0	0	0	0	0	0	1	4525	813	29	2		2	DHRS12	13	52348132	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4938555	52348132	62821746	697	11289											
RNF219	79596	broad.mit.edu	37	chr13	79190259	79190259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgctgttgtctgactctGacatcattgaatccaactca	9	15	6	11	0	5	3	2	3	3	0	6	3	6	3	1	0	2	2	1	0	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:79190259G>A	ENST00000282003.6	-	6	1695	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	546	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTCTGACTCTGACATCATTGA	0.413													50	210					0	0	0	0	A	79190259	G	A	79190259	3	1	58	1	0	0	0	0	1	0	0	0	13567	1294	45	2	547	2	RNF219	13	79190259	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	26842127	79190259	35979619	698	11290											
SLITRK5	26050	broad.mit.edu	37	chr13	88329668	88329668	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcctcctgctggttttcatCatgtccgtcttcgtggccgc	3	14	10	14	3	3	0	2	0	1	0	6	0	5	0	4	2	2	2	4	2	0	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:88329668C>G	ENST00000325089.6	+	2	2244	c.2025C>G	c.(2023-2025)atC>atG	p.I675M	SLITRK5_ENST00000400028.3_Missense_Mutation_p.I434M	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	675						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGGTTTTCATCATGTCCGTCT	0.617													14	61					0	0	0	0	G	88329668	C	G	88329668	3	3	58	1	0	0	0	0	1	0	0	0	14834	816	29	2	2027	2	SLITRK5	13	88329668	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	9139409	88329668	26840210	699	11291											
HS6ST3	266722	broad.mit.edu	37	chr13	96743704	96743704	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaagaaggagacgtggctCttctcccgcttctccaccgg	7	8	12	14	3	3	2	0	0	3	2	5	3	3	2	3	4	0	3	3	4	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:96743704C>G	ENST00000376705.2	+	1	612	c.588C>G	c.(586-588)ctC>ctG	p.L196L		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	196						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGACGTGGCTCTTCTCCCGCT	0.637													3	18					0	0	0	0	G	96743704	C	G	96743704	2	3	58	1	0	0	0	0	0	0	0	1	7422	900	32	2		2	HS6ST3	13	96743704	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	8414036	96743704	18426174	700	11292											
DOCK9	23348	broad.mit.edu	37	chr13	99549807	99549807	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattgctgtcttgcctgtaGatggcagaaaatctggcatt	9	15	10	7	0	2	2	0	0	2	2	2	2	2	2	1	2	2	4	1	2	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:99549807G>C	ENST00000376460.1	-	15	1724	c.1644C>G	c.(1642-1644)atC>atG	p.I548M	DOCK9_ENST00000339416.2_Missense_Mutation_p.I549M|DOCK9_ENST00000448493.2_Missense_Mutation_p.I560M|DOCK9_ENST00000442173.1_Missense_Mutation_p.I548M	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	549					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTGCCTGTAGATGGCAGAAA	0.388													57	275					0	0	0	0	C	99549807	G	C	99549807	3	2	58	1	0	0	0	0	1	0	0	0	4730	932	33	2	4791	2	DOCK9	13	99549807	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2806103	99549807	15620071	701	11293											
ERCC5	2073	broad.mit.edu	37	chr13	103514472	103514472	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttttgacgtgaagtcatctCcatgtgaaaaactgaagaca	14	11	8	8	1	2	5	1	4	1	1	3	5	2	5	1	0	1	0	1	0	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:103514472C>G	ENST00000355739.4	+	8	2396	c.973C>G	c.(973-975)Cca>Gca	p.P325A	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.S750C	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAAGTCATCTCCATGTGAAAA	0.453			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	291					0	0	0	0	G	103514472	C	G	103514472	3	3	58	1	0	0	0	0	1	0	0	0	5254	855	30	2	1003	2	ERCC5	13	103514472	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3964665	103514472	11655406	702	11294											
MYO16	23026	broad.mit.edu	37	chr13	109438029	109438029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgaatggaaatatcccatTagattatgctgtagaaggga	14	12	11	4	0	0	3	0	1	0	2	1	5	1	5	1	2	1	2	1	2	7	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:109438029T>C	ENST00000356711.2	+	5	614	c.488T>C	c.(487-489)tTa>tCa	p.L163S	MYO16_ENST00000357550.2_Missense_Mutation_p.L163S|MYO16_ENST00000467639.1_3'UTR|MYO16_ENST00000251041.5_Missense_Mutation_p.L163S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	163					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AATATCCCATTAGATTATGCT	0.333													13	119					0	0	0	0	C	109438029	T	C	109438029	3	2	58	1	0	0	0	0	1	0	0	0	10134	1764	61	5	502	5	MYO16	13	109438029	Missense_Mutation	SNP	T	TCGA-CN-4723-01A-01D-1434-08	5923557	109438029	5731849	703	11295											
MYO16	23026	broad.mit.edu	37	chr13	109496836	109496836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagcggttccaccaaacccGagcaggtaatcatgctttca	11	9	9	12	2	2	1	2	1	0	0	3	2	3	1	3	2	4	4	3	2	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:109496836G>A	ENST00000356711.2	+	10	1303	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	MYO16_ENST00000357550.2_Missense_Mutation_p.E393K|MYO16_ENST00000251041.5_Missense_Mutation_p.E393K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	393					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CACCAAACCCGAGCAGGTAAT	0.388													18	63					0	0	0	0	A	109496836	G	A	109496836	3	1	58	1	0	0	0	0	1	0	0	0	10134	1059	37	1	1211	1	MYO16	13	109496836	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	58807	109496836	5673042	704	11296											
ARHGEF7	8874	broad.mit.edu	37	chr13	111927983	111927983	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaaaactctgggcaacgtCacttacatgtcccaggtcct	11	11	7	12	1	2	0	1	0	1	0	4	0	4	0	2	2	3	1	2	2	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:111927983C>T	ENST00000375741.2	+	13	1690	c.1440C>T	c.(1438-1440)gtC>gtT	p.V480V	ARHGEF7_ENST00000317133.5_Silent_p.V459V|ARHGEF7_ENST00000218789.5_Silent_p.V302V|ARHGEF7_ENST00000426073.2_Silent_p.V302V|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375737.5_Silent_p.V377V|ARHGEF7_ENST00000370623.3_Silent_p.V387V|ARHGEF7_ENST00000375736.4_Silent_p.V302V|ARHGEF7_ENST00000375723.1_Silent_p.V302V|ARHGEF7_ENST00000478679.1_Silent_p.V224V|ARHGEF7_ENST00000375739.2_Silent_p.V430V|ARHGEF7_ENST00000544132.1_Silent_p.V136V	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	480	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGGGCAACGTCACTTACATGT	0.537													4	216					0	0	0	0	T	111927983	C	T	111927983	2	4	58	1	0	0	0	0	0	0	0	1	913	813	29	2		2	ARHGEF7	13	111927983	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2431147	111927983	3241895	705	11297											
OR11H4	390442	broad.mit.edu	37	chr14	20711066	20711066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattcagattttcctcttctCattgtttttggtgatttatg	6	22	7	6	0	3	2	2	1	2	1	5	3	4	2	1	1	0	1	1	1	1	9			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:20711066C>T	ENST00000315409.2	+	1	169	c.116C>T	c.(115-117)tCa>tTa	p.S39L		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TTCCTCTTCTCATTGTTTTTG	0.448													29	177					0	0	0	0	T	20711066	C	T	20711066	3	4	58	1	0	0	0	0	1	0	0	0	10999	838	29	2	118	2	OR11H4	14	20711066	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08		20711066	86638474	706	11298											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20781915	20781915	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctgtttcagatggccctCagccttgctgaaattgtatt	8	15	8	10	0	3	2	2	1	1	1	3	2	3	2	2	1	2	3	2	1	2	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:20781915C>G	ENST00000398169.3	-	6	959	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.E115Q			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	115						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AGATGGCCCTCAGCCTTGCTG	0.373			T	HMGA2	leiomyoma								112	77					0	0	0	0	G	20781915	C	G	20781915	3	3	58	1	0	0	0	0	1	0	0	0	2941	835	29	2	498	2	CCNB1IP1	14	20781915	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	70849	20781915	86567625	707	11299											
MYH7	4625	broad.mit.edu	37	chr14	23882971	23882971	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccaaaagagggacccaccttCgtgccaatgtcacggctctt	10	8	9	14	2	2	1	1	0	1	1	3	2	2	2	4	2	1	1	4	2	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:23882971C>G	ENST00000355349.3	-	39	5949	c.5787G>C	c.(5785-5787)acG>acC	p.T1929T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1929			T -> M (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		GACCCACCTTCGTGCCAATGT	0.592													48	36					0	0	0	0	G	23882971	C	G	23882971	2	3	58	1	0	0	0	0	0	0	0	1	10109	871	31	3		3	MYH7	14	23882971	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3101056	23882971	83466569	708	11300											
PSME2	5721	broad.mit.edu	37	chr14	24614473	24614473	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttcttctcctgcttatCtgtttccatctaaggcaaaa	8	18	4	11	0	5	0	0	0	5	0	7	0	6	0	2	1	1	3	2	1	4	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:24614473C>G	ENST00000216802.5	-	5	880	c.241G>C	c.(241-243)Gat>Cat	p.D81H	PSME2_ENST00000560410.1_Missense_Mutation_p.D70H|PSME2_ENST00000471700.2_5'UTR	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	81					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		TCCTGCTTATCTGTTTCCATC	0.463													6	151					0	0	0	0	G	24614473	C	G	24614473	3	3	58	1	0	0	0	0	1	0	0	0	12786	913	32	2	506	2	PSME2	14	24614473	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	731502	24614473	82735067	709	11301											
AKAP6	9472	broad.mit.edu	37	chr14	33290655	33290655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatggacctaaatgggatGagtgaggatgccctggaatg	11	10	15	5	0	0	3	0	3	0	0	0	7	0	7	2	4	1	0	2	4	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:33290655G>A	ENST00000280979.4	+	13	3806	c.3636G>A	c.(3634-3636)atG>atA	p.M1212I	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1212					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)		TAAATGGGATGAGTGAGGATG	0.393													107	88					0	0	0	0	A	33290655	G	A	33290655	3	1	58	1	0	0	0	0	1	0	0	0	455	1290	45	2	3682	2	AKAP6	14	33290655	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	8676182	33290655	74058885	710	11302											
AKAP6	9472	broad.mit.edu	37	chr14	33291388	33291388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctgactgtttgggagaaGaattacaaggaaaacatgat	15	9	10	7	0	0	4	0	2	0	2	0	6	0	5	2	2	2	1	2	2	6	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:33291388G>A	ENST00000280979.4	+	13	4539	c.4369G>A	c.(4369-4371)Gaa>Aaa	p.E1457K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1457					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)		TTTGGGAGAAGAATTACAAGG	0.363													35	28					0	0	0	0	A	33291388	G	A	33291388	3	1	58	1	0	0	0	0	1	0	0	0	455	943	33	2	4415	2	AKAP6	14	33291388	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	733	33291388	74058152	711	11303											
SSTR1	6751	broad.mit.edu	37	chr14	38678632	38678632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcctcctctccttcctcctCtcctagccccagcccgggca	3	9	6	23	2	2	0	0	0	2	0	7	0	5	0	9	1	2	1	9	1	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:38678632C>G	ENST00000267377.2	+	3	655	c.38C>G	c.(37-39)tCt>tGt	p.S13C		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	13					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CCTTCCTCCTCTCCTAGCCCC	0.746													11	6					0	0	0	0	G	38678632	C	G	38678632	3	3	58	1	0	0	0	0	1	0	0	0	15287	913	32	2	40	2	SSTR1	14	38678632	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5387244	38678632	68670908	712	11304											
RPL10L	140801	broad.mit.edu	37	chr14	47120418	47120418	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattcgtcagcattaaacttCgtgaagccccacttcttgga	11	12	7	11	2	2	1	1	1	1	0	4	2	2	2	2	1	3	1	2	1	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:47120418C>T	ENST00000298283.3	-	1	610	c.522G>A	c.(520-522)acG>acA	p.T174T		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	174					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CATTAAACTTCGTGAAGCCCC	0.507													106	77					0	0	0	0	T	47120418	C	T	47120418	2	4	58	1	0	0	0	0	0	0	0	1	13641	871	31	1		1	RPL10L	14	47120418	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	8441786	47120418	60229122	713	11305											
FRMD6	122786	broad.mit.edu	37	chr14	52182162	52182162	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagcaacagccaccgcctCtatatgaatctgcagcctgt	10	9	8	14	1	2	2	0	2	2	0	2	2	2	2	4	0	5	2	4	0	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:52182162C>G	ENST00000395718.2	+	10	1230	c.945C>G	c.(943-945)ctC>ctG	p.L315L	FRMD6_ENST00000554167.1_Silent_p.L246L|FRMD6_ENST00000356218.4_Silent_p.L315L|FRMD6_ENST00000344768.5_Silent_p.L323L	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	323	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GCCACCGCCTCTATATGAATC	0.557													52	29					0	0	0	0	G	52182162	C	G	52182162	2	3	58	1	0	0	0	0	0	0	0	1	6102	900	32	2		2	FRMD6	14	52182162	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5061744	52182162	55167378	714	11306											
DDHD1	80821	broad.mit.edu	37	chr14	53513591	53513591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgaccaataggcagtatgCgacgtgacagctgaccaata	14	7	11	9	2	0	3	0	3	0	0	0	5	0	3	2	1	2	3	2	1	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:53513591C>T	ENST00000357758.3	-	12	2697	c.2514G>A	c.(2512-2514)tcG>tcA	p.S838S	DDHD1_ENST00000395606.1_Silent_p.S845S|DDHD1_ENST00000323669.5_Silent_p.S866S	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	866	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AGGCAGTATGCGACGTGACAG	0.408													4	116					0	0	0	0	T	53513591	C	T	53513591	2	4	58	1	0	0	0	0	0	0	0	1	4358	755	27	1		1	DDHD1	14	53513591	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1331429	53513591	53835949	715	11307											
DHRS7	51635	broad.mit.edu	37	chr14	60619717	60619717	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtacagatatgatacccagGatgctattcacagtaacaat	15	10	8	8	0	1	2	1	1	0	1	1	3	1	3	1	2	4	3	1	2	6	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:60619717G>A	ENST00000216500.5	-	5	1028	c.573C>T	c.(571-573)atC>atT	p.I191I	DHRS7_ENST00000557185.1_Silent_p.I191I|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000553986.1_5'UTR|DHRS7_ENST00000536410.2_Silent_p.I141I			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	191							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TGATACCCAGGATGCTATTCA	0.433													109	94					0	0	0	0	A	60619717	G	A	60619717	2	1	58	1	0	0	0	0	0	0	0	1	4532	1164	41	2		2	DHRS7	14	60619717	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	7106126	60619717	46729823	716	11308											
SYNE2	23224	broad.mit.edu	37	chr14	64669652	64669652	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgatgtctgcgatgatcaaGagatccagaagaggctcgct	12	9	12	8	2	2	5	1	2	1	3	4	7	3	5	1	1	1	2	1	1	2	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:64669652G>C	ENST00000357395.3	+	101	18471	c.7327G>C	c.(7327-7329)Gag>Cag	p.E2443Q	SYNE2_ENST00000555002.1_Missense_Mutation_p.E2692Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6020Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2443Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6058Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6058Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6058					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGATGATCAAGAGATCCAGAA	0.512													53	43					0	0	0	0	C	64669652	G	C	64669652	3	2	58	1	0	0	0	0	1	0	0	0	15537	943	33	2	18566	2	SYNE2	14	64669652	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4049935	64669652	42679888	717	11309											
MPP5	64398	broad.mit.edu	37	chr14	67784156	67784156	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgcaaagaagaataaaaaGaagaggaaaaaggttttata	22	8	10	1	0	0	4	0	0	0	4	0	5	0	5	0	2	1	2	0	2	11	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:67784156G>C	ENST00000261681.4	+	11	1990	c.1329G>C	c.(1327-1329)aaG>aaC	p.K443N	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Missense_Mutation_p.K409N	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	443					tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGAATAAAAAGAAGAGGAAAA	0.338													42	34					0	0	0	0	C	67784156	G	C	67784156	3	2	58	1	0	0	0	0	1	0	0	0	9807	933	33	2	1363	2	MPP5	14	67784156	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3114504	67784156	39565384	718	11310											
PLEKHH1	57475	broad.mit.edu	37	chr14	68043190	68043190	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctatgagcagctcattGgaaaactgatggatggtgaa	12	10	12	7	0	1	3	1	3	0	0	1	5	1	5	1	3	4	2	1	3	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:68043190G>T	ENST00000329153.5	+	17	2563	c.2431G>T	c.(2431-2433)Gga>Tga	p.G811*		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	811						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCAGCTCATTGGAAAACTGAT	0.562													49	39					3.7052e-28	3.97655e-28	1	0	T	68043190	G	T	68043190	4	4	58	1	0	0	0	0	0	1	0	0	12148	1349	47	4	2493	4	PLEKHH1	14	68043190	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	259034	68043190	39306350	719	11311											
PCNX	22990	broad.mit.edu	37	chr14	71428976	71428976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattgaaatgtctgagttCatccgagaggccacaccccc	10	8	11	12	1	2	3	1	2	1	1	3	5	3	4	4	2	0	1	4	2	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:71428976C>A	ENST00000304743.2	+	3	842	c.396C>A	c.(394-396)ttC>ttA	p.F132L	PCNX_ENST00000439984.3_Missense_Mutation_p.F132L|PCNX_ENST00000238570.5_Missense_Mutation_p.F132L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	132						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGTCTGAGTTCATCCGAGAGG	0.443													6	469					0.00307968	0.00313054	1	0	A	71428976	C	A	71428976	3	1	58	1	0	0	0	0	1	0	0	0	11662	825	29	2	406	2	PCNX	14	71428976	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3385786	71428976	35920564	720	11312											
DPF3	8110	broad.mit.edu	37	chr14	73137905	73137905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactgcggcgtcctcgacagGagcgaggctcttccaaatcg	8	7	12	14	5	1	0	0	0	1	0	5	3	3	1	2	3	2	1	2	3	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:73137905G>A	ENST00000541685.1	-	9	1025	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.S348F|DPF3_ENST00000556509.1_Intron	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	169					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCCTCGACAGGAGCGAGGCTC	0.572													51	31					0	0	0	0	A	73137905	G	A	73137905	3	1	58	1	0	0	0	0	1	0	0	0	4754	1174	41	2	64	2	DPF3	14	73137905	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1708929	73137905	34211635	721	11313											
DNAL1	83544	broad.mit.edu	37	chr14	74125577	74125577	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactggccagaggccatctGaagccaaagagataaaactt	17	6	9	9	0	1	3	0	1	1	2	1	4	1	3	3	2	3	0	3	2	5	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:74125577G>T	ENST00000553645.1	+	3	111	c.70G>T	c.(70-72)Gaa>Taa	p.E24*	DNAL1_ENST00000311089.3_Intron|DNAL1_ENST00000540526.1_5'UTR|DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000554871.1_5'UTR	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	24										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		GAGGCCATCTGAAGCCAAAGA	0.403													269	171					3.09578e-119	3.37248e-119	1	0	T	74125577	G	T	74125577	4	4	58	1	0	0	0	0	0	1	0	0	4693	1291	45	2	80	2	DNAL1	14	74125577	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	987672	74125577	33223963	722	11314											
ANGEL1	23357	broad.mit.edu	37	chr14	77269772	77269772	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctactggtcgctgacaagcGatgctgcagaagcggaaacg	11	6	13	11	4	0	2	0	1	0	1	1	4	0	3	1	2	6	3	1	2	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:77269772G>A	ENST00000251089.2	-	7	1672	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	ANGEL1_ENST00000557179.1_Silent_p.I85I	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	520										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCTGACAAGCGATGCTGCAGA	0.473													83	61					0	0	0	0	A	77269772	G	A	77269772	2	1	58	1	0	0	0	0	0	0	0	1	608	1048	37	1		1	ANGEL1	14	77269772	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3144195	77269772	30079768	723	11315											
SNW1	22938	broad.mit.edu	37	chr14	78184606	78184606	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtctacggtctgaaccaGaaaactccttgtcgggaaca	11	10	9	11	2	3	2	0	1	3	1	5	3	4	3	2	2	4	0	2	2	5	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:78184606G>C	ENST00000261531.7	-	14	1498	c.1436C>G	c.(1435-1437)tCt>tGt	p.S479C	SNW1_ENST00000555761.1_Missense_Mutation_p.L506V|SLIRP_ENST00000557431.1_Intron|SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.S317C	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	479					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GTCTGAACCAGAAAACTCCTT	0.428													9	445					0	0	0	0	C	78184606	G	C	78184606	3	2	58	1	0	0	0	0	1	0	0	0	14967	942	33	2	178	2	SNW1	14	78184606	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	914834	78184606	29164934	724	11316											
ADCK1	57143	broad.mit.edu	37	chr14	78374175	78374175	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccactgggacctgtccacGgagcgggtcctcctgatgga	7	8	13	13	2	0	1	0	1	0	0	4	4	4	4	5	4	1	0	5	4	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:78374175G>A	ENST00000238561.5	+	7	870	c.771G>A	c.(769-771)acG>acA	p.T257T	ADCK1_ENST00000341211.5_Silent_p.T189T	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	264	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity	p.T257T(1)|p.T189T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACCTGTCCACGGAGCGGGTCC	0.567													31	26					0	0	0	0	A	78374175	G	A	78374175	2	1	58	1	0	0	0	0	0	0	0	1	288	1103	39	1		1	ADCK1	14	78374175	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	189569	78374175	28975365	725	11317											
NRXN3	9369	broad.mit.edu	37	chr14	79181351	79181351	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgctgcgggtgtcaagtcctCctgttcacggatgagtgcca	6	11	13	11	2	2	1	2	1	0	0	4	2	4	2	3	2	3	2	3	2	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:79181351C>G	ENST00000554719.1	+	5	1285	c.794C>G	c.(793-795)tCc>tGc	p.S265C	NRXN3_ENST00000335750.5_Missense_Mutation_p.S265C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTCAAGTCCTCCTGTTCACGG	0.562													3	118					0	0	0	0	G	79181351	C	G	79181351	3	3	58	1	0	0	0	0	1	0	0	0	10738	855	30	2	804	2	NRXN3	14	79181351	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	807176	79181351	28168189	726	11318											
TTC7B	145567	broad.mit.edu	37	chr14	91123528	91123528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctactcacccagtgcaggGagcccatgcagagcttggca	9	6	11	15	0	1	1	1	0	0	1	1	2	1	2	3	2	5	4	3	2	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:91123528G>A	ENST00000357056.2	-	11	1452	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	TTC7B_ENST00000328459.6_Missense_Mutation_p.S444F			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	444							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CCAGTGCAGGGAGCCCATGCA	0.622													97	65					0	0	0	0	A	91123528	G	A	91123528	3	1	58	1	0	0	0	0	1	0	0	0	16809	1174	41	2	1240	2	TTC7B	14	91123528	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	11942177	91123528	16226012	727	11319											
DDX24	57062	broad.mit.edu	37	chr14	94526564	94526564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagagaggcgtttgatgcagGagatactgttggcaaacact	12	9	13	7	1	0	3	0	1	0	2	0	5	0	3	0	3	3	4	0	3	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:94526564G>A	ENST00000330836.5	-	5	1924	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	DDX24_ENST00000544005.1_Missense_Mutation_p.S348F|DDX24_ENST00000555054.1_Missense_Mutation_p.S555F	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	598	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTTGATGCAGGAGATACTGTT	0.498													67	42					0	0	0	0	A	94526564	G	A	94526564	3	1	58	1	0	0	0	0	1	0	0	0	4383	1174	41	2	806	2	DDX24	14	94526564	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3403036	94526564	12822976	728	11320											
GSC	145258	broad.mit.edu	37	chr14	95235376	95235376	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtacttggtctcctggaaGaggttctcgagagcttcgag	7	11	15	8	2	2	2	0	0	2	2	5	5	2	3	1	4	2	3	1	4	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:95235376G>A	ENST00000238558.3	-	2	743	c.534C>T	c.(532-534)ctC>ctT	p.L178L		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	178					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		TCTCCTGGAAGAGGTTCTCGA	0.667													7	8					0	0	0	0	A	95235376	G	A	95235376	2	1	58	1	0	0	0	0	0	0	0	1	6864	929	33	2		2	GSC	14	95235376	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	708812	95235376	12114164	729	11321											
BEGAIN	57596	broad.mit.edu	37	chr14	101004323	101004323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcagttgagcaaggttcCgtagagctgggccttggtga	7	10	15	9	2	1	3	1	2	0	1	2	3	2	3	2	3	2	6	2	3	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:101004323C>T	ENST00000556751.1	-	5	4977	c.1573G>A	c.(1573-1575)Gga>Aga	p.G525R	BEGAIN_ENST00000443071.2_Missense_Mutation_p.G589R|BEGAIN_ENST00000355173.2_Missense_Mutation_p.G589R			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	589						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				AGCAAGGTTCCGTAGAGCTGG	0.706													13	22					0	0	0	0	T	101004323	C	T	101004323	3	4	58	1	0	0	0	0	1	0	0	0	1401	661	23	1	20	1	BEGAIN	14	101004323	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5768947	101004323	6345217	730	11322											
KLC1	3831	broad.mit.edu	37	chr14	104129088	104129088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccagcagggcggctaCgagatccccgcgcggctgcg	5	4	16	16	6	0	1	0	0	0	1	1	2	1	1	3	3	4	4	3	3	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:104129088C>T	ENST00000389744.4	+	5	890	c.621C>T	c.(619-621)taC>taT	p.Y207Y	KLC1_ENST00000246489.7_Silent_p.Y207Y|KLC1_ENST00000452929.2_Silent_p.Y207Y|KLC1_ENST00000554280.1_Silent_p.Y207Y|KLC1_ENST00000334553.6_Silent_p.Y207Y|KLC1_ENST00000555836.1_Silent_p.Y207Y|KLC1_ENST00000380038.3_Silent_p.Y207Y|RP11-73M18.2_ENST00000472726.2_Silent_p.Y379Y|KLC1_ENST00000347839.6_Silent_p.Y207Y|KLC1_ENST00000348520.6_Silent_p.Y207Y|KLC1_ENST00000557575.1_Silent_p.Y207Y|KLC1_ENST00000553286.1_Silent_p.Y207Y|KLC1_ENST00000445352.4_Silent_p.Y207Y|KLC1_ENST00000557450.1_Silent_p.Y207Y			Q07866	KLC1_HUMAN	kinesin light chain 1	207					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGGGCGGCTACGAGATCCCCG	0.622													4	123					0	0	0	0	T	104129088	C	T	104129088	2	4	58	1	0	0	0	0	0	0	0	1	8385	547	19	1		1	KLC1	14	104129088	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3124765	104129088	3220452	731	11323											
CYFIP1	23191	broad.mit.edu	37	chr15	22993080	22993080	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgtggagtacgcagagctGaagacggtgtgcttccagaa	11	8	14	8	3	0	4	0	1	0	3	2	5	1	5	1	2	3	4	1	2	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:22993080G>A	ENST00000313077.7	+	26	3092	c.2967G>A	c.(2965-2967)ctG>ctA	p.L989L	CYFIP1_ENST00000435939.2_Silent_p.L558L|CYFIP1_ENST00000560848.1_Silent_p.L989L	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	989					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ACGCAGAGCTGAAGACGGTGT	0.647													50	126					0	0	0	0	A	22993080	G	A	22993080	2	1	58	1	0	0	0	0	0	0	0	1	4169	1277	45	2		2	CYFIP1	15	22993080	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08		22993080	79538312	732	11324											
SNRPN	6638	broad.mit.edu	37	chr15	25223557	25223557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatttcctttccaggtcCacctcccccaggaatgcgtc	6	13	6	16	1	1	0	0	0	1	0	6	1	5	1	6	2	1	0	6	2	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:25223557C>T	ENST00000444203.2	+	8	1740	c.701C>T	c.(700-702)cCa>cTa	p.P234L	SNRPN_ENST00000346403.6_Missense_Mutation_p.P230L|SNRPN_ENST00000400098.1_Missense_Mutation_p.P230L|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Missense_Mutation_p.P234L|SNRPN_ENST00000390687.4_Missense_Mutation_p.P230L|SNRPN_ENST00000400100.1_Missense_Mutation_p.P230L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P230L|SNRPN_ENST00000400097.1_Missense_Mutation_p.P230L			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	230	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TTTCCAGGTCCACCTCCCCCA	0.473									Prader-Willi syndrome				85	285					0	0	0	0	T	25223557	C	T	25223557	3	4	58	1	0	0	0	0	1	0	0	0	14958	594	21	4	715	4	SNRPN	15	25223557	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2230477	25223557	77307835	733	11325											
CHRM5	1133	broad.mit.edu	37	chr15	34356124	34356124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgtcacaaggtgaaaatCatgccctgccccttcccagt	9	9	9	14	0	2	1	2	1	0	0	3	1	3	1	4	2	2	1	4	2	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:34356124C>G	ENST00000383263.5	+	3	1876	c.1206C>G	c.(1204-1206)atC>atG	p.I402M	CHRM5_ENST00000557872.1_Missense_Mutation_p.I402M	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	402					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	AGGTGAAAATCATGCCCTGCC	0.502													3	135					0	0	0	0	G	34356124	C	G	34356124	3	3	58	1	0	0	0	0	1	0	0	0	3409	816	29	2	1208	2	CHRM5	15	34356124	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	9132567	34356124	68175268	734	11326											
TP53BP1	7158	broad.mit.edu	37	chr15	43699588	43699588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaccaagtatctttagtgaGaaacataatcgtgtttatat	15	14	7	5	1	1	2	0	1	1	2	2	3	1	2	1	0	1	2	1	0	7	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:43699588G>A	ENST00000263801.3	-	28	6164	c.5912C>T	c.(5911-5913)tCt>tTt	p.S1971F	TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1976F|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1926F|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1974F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1971					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTTTAGTGAGAAACATAATC	0.413								Other conserved DNA damage response genes					39	100					0	0	0	0	A	43699588	G	A	43699588	3	1	58	1	0	0	0	0	1	0	0	0	16478	942	33	2	10	2	TP53BP1	15	43699588	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	9343464	43699588	58831804	735	11327											
MAP1A	4130	broad.mit.edu	37	chr15	43815427	43815427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttccagggctgggacaaGaagaacatgtgatgaaggag	13	7	15	6	0	0	4	0	2	0	2	1	6	1	6	1	3	1	2	1	3	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:43815427G>A	ENST00000382031.1	+	5	2501	c.2470G>A	c.(2470-2472)Gaa>Aaa	p.E824K	MAP1A_ENST00000300231.5_Missense_Mutation_p.E586K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E586K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	586						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCTGGGACAAGAAGAACATGT	0.542													16	33					0	0	0	0	A	43815427	G	A	43815427	3	1	58	1	0	0	0	0	1	0	0	0	9296	943	33	2	1758	2	MAP1A	15	43815427	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	115839	43815427	58715965	736	11328											
PDIA3	2923	broad.mit.edu	37	chr15	44058971	44058971	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggatgctgggcacaaactCaactttgctgtagctagccg	9	10	11	11	1	1	0	1	0	0	0	1	1	1	1	1	2	6	5	1	2	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:44058971C>G	ENST00000300289.5	+	8	1039	c.891C>G	c.(889-891)ctC>ctG	p.L297L	PDIA3_ENST00000538521.1_Silent_p.L277L	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	297					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGCACAAACTCAACTTTGCTG	0.458													19	47					0	0	0	0	G	44058971	C	G	44058971	2	3	58	1	0	0	0	0	0	0	0	1	11740	813	29	2		2	PDIA3	15	44058971	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	243544	44058971	58472421	737	11329											
SPG11	80208	broad.mit.edu	37	chr15	44878014	44878014	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggatgtatccttcaaaatCtggcaaaggatgcaaagctt	14	11	9	7	0	2	0	1	0	1	0	3	2	3	2	1	3	2	4	1	3	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:44878014C>G	ENST00000261866.7	-	29	4957	c.4941G>C	c.(4939-4941)caG>caC	p.Q1647H	SPG11_ENST00000558319.1_Missense_Mutation_p.Q1647H|SPG11_ENST00000535302.2_Missense_Mutation_p.Q1647H|SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000427534.2_Missense_Mutation_p.Q1647H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1647					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCTTCAAAATCTGGCAAAGGA	0.358													38	157					0	0	0	0	G	44878014	C	G	44878014	3	3	58	1	0	0	0	0	1	0	0	0	15131	912	32	2	2438	2	SPG11	15	44878014	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	819043	44878014	57653378	738	11330											
DUOX1	53905	broad.mit.edu	37	chr15	45426095	45426095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catttcgtgggaggtgcagcGatttgatgggtggtacaaca	9	11	15	6	2	0	1	0	1	0	0	1	3	0	2	0	4	4	2	0	4	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:45426095G>A	ENST00000321429.4	+	4	499	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R31Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	31	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GAGGTGCAGCGATTTGATGGG	0.592													38	115					0	0	0	0	A	45426095	G	A	45426095	3	1	58	1	0	0	0	0	1	0	0	0	4836	1058	37	1	98	1	DUOX1	15	45426095	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	548081	45426095	57105297	739	11331											
ONECUT1	3175	broad.mit.edu	37	chr15	53081966	53081966	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggctgccgcggtgcGccacggagctgcgcgcgtgg	3	5	20	13	7	0	0	0	0	0	0	0	1	0	1	2	5	4	3	2	5	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:53081966G>C	ENST00000305901.5	-	1	243	c.116C>G	c.(115-117)gCg>gGg	p.A39G	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	39					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GCCGCGGTGCGCCACGGAGCT	0.756													4	4					0	0	0	0	C	53081966	G	C	53081966	3	2	58	1	0	0	0	0	1	0	0	0	10939	1087	38	3	1289	3	ONECUT1	15	53081966	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	7655871	53081966	49449426	740	11332											
CCPG1	9236	broad.mit.edu	37	chr15	55653003	55653003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttaactcttcctgtaatGaggataaggctttttcttcc	8	18	7	8	0	2	1	0	1	2	0	4	2	4	2	2	2	1	3	2	2	3	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:55653003G>A	ENST00000310958.6	-	8	1266	c.968C>T	c.(967-969)tCa>tTa	p.S323L	CCPG1_ENST00000569205.1_Missense_Mutation_p.S323L|CCPG1_ENST00000442196.3_Missense_Mutation_p.S323L|CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	323					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCCTGTAATGAGGATAAGGC	0.343													34	125					0	0	0	0	A	55653003	G	A	55653003	3	1	58	1	0	0	0	0	1	0	0	0	2967	1294	45	2	1309	2	CCPG1	15	55653003	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2571037	55653003	46878389	741	11333											
AQP9	366	broad.mit.edu	37	chr15	58465363	58465363	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtgggagcccagttcttggGagcctttgtgggggctgcaa	5	11	17	8	0	1	0	0	0	1	0	1	2	1	2	2	4	3	3	2	4	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:58465363G>C	ENST00000219919.4	+	3	705	c.335G>C	c.(334-336)gGa>gCa	p.G112A	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.G47A|AQP9_ENST00000536493.1_Missense_Mutation_p.G112A	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	112					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CAGTTCTTGGGAGCCTTTGTG	0.473													74	271					0	0	0	0	C	58465363	G	C	58465363	3	2	58	1	0	0	0	0	1	0	0	0	835	1174	41	2	345	2	AQP9	15	58465363	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2812360	58465363	44066029	742	11334											
CILP	8483	broad.mit.edu	37	chr15	65489713	65489713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgccccccatgttgcGggatcgcacattcacttcca	8	10	9	14	2	1	1	1	1	0	0	3	2	2	2	4	1	2	2	4	1	0	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:65489713G>A	ENST00000261883.4	-	9	3077	c.2911C>T	c.(2911-2913)Cgc>Tgc	p.R971C		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	971					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCCATGTTGCGGGATCGCACA	0.562													31	122					0	0	0	0	A	65489713	G	A	65489713	3	1	58	1	0	0	0	0	1	0	0	0	3458	1116	39	1	647	1	CILP	15	65489713	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	7024350	65489713	37041679	743	11335											
CILP	8483	broad.mit.edu	37	chr15	65499133	65499133	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcttacctggtgggcagagGaagcgtacggtgtaattaga	10	9	16	6	2	0	2	0	0	0	2	0	3	0	3	1	5	3	4	1	5	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:65499133G>A	ENST00000261883.4	-	4	577	c.411C>T	c.(409-411)ttC>ttT	p.F137F		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	137					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTGGGCAGAGGAAGCGTACGG	0.627													67	160					0	0	0	0	A	65499133	G	A	65499133	2	1	58	1	0	0	0	0	0	0	0	1	3458	1165	41	2		2	CILP	15	65499133	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	9420	65499133	37032259	744	11336											
THSD4	79875	broad.mit.edu	37	chr15	71535271	71535271	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagctacctttgacccatGatcaaggctaccctgcagct	10	9	7	15	0	1	2	1	2	0	0	1	2	1	2	4	1	5	4	4	1	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:71535271G>C	ENST00000355327.3	+	5	882	c.748G>C	c.(748-750)Gat>Cat	p.D250H	THSD4_ENST00000261862.6_Missense_Mutation_p.D250H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	250	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTGACCCATGATCAAGGCTA	0.582													27	127					0	0	0	0	C	71535271	G	C	71535271	3	2	58	1	0	0	0	0	1	0	0	0	15972	1290	45	2	762	2	THSD4	15	71535271	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	6036138	71535271	30996121	745	11337											
MYO9A	4649	broad.mit.edu	37	chr15	72170385	72170385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatatcacatttacctttGtggctgtgcaatctgaagtc	11	15	7	8	0	2	1	1	1	1	0	3	1	2	1	1	1	2	2	1	1	6	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:72170385G>A	ENST00000356056.5	-	31	6399	c.5927C>T	c.(5926-5928)aCa>aTa	p.T1976I	MYO9A_ENST00000564571.1_Missense_Mutation_p.T1976I|MYO9A_ENST00000424560.1_Missense_Mutation_p.T2047I|MYO9A_ENST00000444904.1_Missense_Mutation_p.T1957I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1976	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTTACCTTTGTGGCTGTGCA	0.308													24	67					0	0	0	0	A	72170385	G	A	72170385	3	1	58	1	0	0	0	0	1	0	0	0	10154	1377	48	4	1767	4	MYO9A	15	72170385	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	635114	72170385	30361007	746	11338											
CELF6	60677	broad.mit.edu	37	chr15	72582346	72582346	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccccttgactcccgaacttCacaaaggcacagcctggggc	9	7	9	16	1	1	1	1	1	0	0	3	2	3	1	4	3	2	1	4	3	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:72582346C>T	ENST00000287202.5	-	5	791	c.537G>A	c.(535-537)gtG>gtA	p.V179V	CELF6_ENST00000543764.2_Silent_p.V64V|CELF6_ENST00000539635.1_Silent_p.V40V|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Silent_p.V179V|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000395258.2_Silent_p.V66V	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	179	RRM 2.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						TCCCGAACTTCACAAAGGCAC	0.657													5	17					0	0	0	0	T	72582346	C	T	72582346	2	4	58	1	0	0	0	0	0	0	0	1	3249	813	29	2		2	CELF6	15	72582346	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	411961	72582346	29949046	747	11339											
MPI	4351	broad.mit.edu	37	chr15	75189514	75189514	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggaagacccctacctctCaatctatgacccccctgtac	10	9	5	17	0	3	2	2	1	2	1	4	3	3	3	6	1	2	1	6	1	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:75189514C>G	ENST00000352410.4	+	7	1074	c.1007C>G	c.(1006-1008)tCa>tGa	p.S336*	MPI_ENST00000563786.1_Nonsense_Mutation_p.S316*|MPI_ENST00000535694.1_Nonsense_Mutation_p.S286*|MPI_ENST00000566377.1_Intron|MPI_ENST00000323744.6_Nonsense_Mutation_p.S275*			P34949	MPI_HUMAN	mannose phosphate isomerase	336					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CCCTACCTCTCAATCTATGAC	0.517													64	116					0	0	0	0	G	75189514	C	G	75189514	4	3	58	1	0	0	0	0	0	1	0	0	9799	838	29	2	1033	2	MPI	15	75189514	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2607168	75189514	27341878	748	11340											
SIN3A	25942	broad.mit.edu	37	chr15	75668138	75668138	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacattctccatggtcttCttgctgtttccttccttccc	3	18	4	16	0	3	0	0	0	3	0	8	0	7	0	5	1	1	2	5	1	0	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:75668138C>T	ENST00000394947.3	-	20	3773	c.3459G>A	c.(3457-3459)aaG>aaA	p.K1153K	SIN3A_ENST00000360439.4_Silent_p.K1153K|SIN3A_ENST00000394949.4_Silent_p.K1153K	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1153					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CCATGGTCTTCTTGCTGTTTC	0.468													65	222					0	0	0	0	T	75668138	C	T	75668138	2	4	58	1	0	0	0	0	0	0	0	1	14413	912	32	2		2	SIN3A	15	75668138	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	478624	75668138	26863254	749	11341											
MESDC1	59274	broad.mit.edu	37	chr15	81295691	81295691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgccagtgaattccaattCtgtgaattagcaccccaccc	11	9	6	15	1	1	2	0	2	1	0	2	2	2	2	6	0	1	1	6	0	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:81295691C>G	ENST00000267984.2	+	1	2397	c.1079C>G	c.(1078-1080)tCt>tGt	p.S360C		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	360										endometrium(1)|lung(2)	3						AATTCCAATTCTGTGAATTAG	0.517													3	19					0	0	0	0	G	81295691	C	G	81295691	3	3	58	1	0	0	0	0	1	0	0	0	9549	913	32	2	1081	2	MESDC1	15	81295691	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5627553	81295691	21235701	750	11342											
ALPK3	57538	broad.mit.edu	37	chr15	85360149	85360149	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaggcgagggtcagtcacgGctggtgccaggaagagggct	9	5	18	9	2	2	1	2	0	0	1	2	3	2	2	1	6	1	2	1	6	2	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:85360149G>T	ENST00000258888.5	+	1	239	c.72G>T	c.(70-72)cgG>cgT	p.R24R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	24					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCAGTCACGGCTGGTGCCAG	0.662													6	22					8.12818e-05	8.35208e-05	1	0	T	85360149	G	T	85360149	2	4	58	1	0	0	0	0	0	0	0	1	546	1190	42	4		4	ALPK3	15	85360149	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4064458	85360149	17171243	751	11343											
UNC45A	55898	broad.mit.edu	37	chr15	91488219	91488219	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagcgcctctattctcctCagcaagctctttgatgacct	8	13	7	13	1	4	3	1	3	3	0	5	3	4	3	3	0	3	2	3	0	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:91488219C>T	ENST00000394275.2	+	12	1915	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	UNC45A_ENST00000418476.2_Silent_p.L375L	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	375					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTATTCTCCTCAGCAAGCTCT	0.512													26	81					0	0	0	0	T	91488219	C	T	91488219	2	4	58	1	0	0	0	0	0	0	0	1	17084	813	29	2		2	UNC45A	15	91488219	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	6128070	91488219	11043173	752	11344											
TARSL2	123283	broad.mit.edu	37	chr15	102264441	102264441	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgcgccacctcccgcgtGaggcacggcccctccgcctg	4	5	12	20	5	0	1	0	1	0	0	2	1	2	1	7	2	2	2	7	2	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:102264441G>C	ENST00000335968.3	-	1	366	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	50					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTCCCGCGTGAGGCACGGCC	0.736													6	10					0	0	0	0	C	102264441	G	C	102264441	2	2	58	1	0	0	0	0	0	0	0	1	15652	1277	45	2		2	TARSL2	15	102264441	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	10776222	102264441	266951	753	11345											
WFIKKN1	117166	broad.mit.edu	37	chr16	682690	682690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgacgacagcggcctcctgcGagggctttgtgtgcccacag	6	7	14	14	4	0	0	0	0	0	0	1	3	1	0	3	2	3	1	3	2	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:682690G>A	ENST00000319070.2	+	2	602	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	94						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				GGCCTCCTGCGAGGGCTTTGT	0.682													5	14					0	0	0	0	A	682690	G	A	682690	3	1	58	1	0	0	0	0	1	0	0	0	17454	1059	37	1	286	1	WFIKKN1	16	682690	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08		682690	89672063	754	11346											
CACNA1H	8912	broad.mit.edu	37	chr16	1261954	1261954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtgccacagcctgtgcaGaaccacaacccctggatgct	9	8	9	15	0	1	1	0	0	1	1	1	2	1	2	5	1	6	2	5	1	2	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:1261954G>C	ENST00000348261.5	+	25	4823	c.4575G>C	c.(4573-4575)caG>caC	p.Q1525H	CACNA1H_ENST00000565831.1_Missense_Mutation_p.Q1525H|CACNA1H_ENST00000358590.4_Missense_Mutation_p.Q1525H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1525					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGCCTGTGCAGAACCACAACC	0.652													41	111					0	0	0	0	C	1261954	G	C	1261954	3	2	58	1	0	0	0	0	1	0	0	0	2570	933	33	2	4669	2	CACNA1H	16	1261954	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	579264	1261954	89092799	755	11347											
TRAF7	84231	broad.mit.edu	37	chr16	2222339	2222339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctttgaggtggacccccGagggtgccccttcaccatca	7	9	10	15	1	3	1	2	1	1	0	3	3	3	2	5	3	1	0	5	3	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2222339G>A	ENST00000326181.6	+	8	755	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	208					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GTGGACCCCCGAGGGTGCCCC	0.687													9	34					0	0	0	0	A	2222339	G	A	2222339	3	1	58	1	0	0	0	0	1	0	0	0	16541	1058	37	1	649	1	TRAF7	16	2222339	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	960385	2222339	88132414	756	11348											
CASKIN1	57524	broad.mit.edu	37	chr16	2239055	2239055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgatgtggccgtttttaGctgcgaggtgcaaagggctg	6	12	16	7	3	0	0	0	0	0	0	1	2	0	0	1	3	3	4	1	3	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2239055G>T	ENST00000343516.6	-	6	682	c.590C>A	c.(589-591)gCt>gAt	p.A197D		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	197					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCCGTTTTTAGCTGCGAGGTG	0.657													17	79					1.02788e-11	1.07413e-11	1	0	T	2239055	G	T	2239055	3	4	58	1	0	0	0	0	1	0	0	0	2691	971	34	4	3765	4	CASKIN1	16	2239055	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	16716	2239055	88115698	757	11349											
ABCA3	21	broad.mit.edu	37	chr16	2339481	2339481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcctcctcgatgagggctCcaatgccgtcggaggggtcc	5	8	14	14	3	0	1	0	1	0	0	6	3	4	2	5	4	1	2	5	4	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2339481C>A	ENST00000301732.5	-	20	3354	c.2654G>T	c.(2653-2655)gGa>gTa	p.G885V	ABCA3_ENST00000382381.3_Missense_Mutation_p.G827V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	885					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GATGAGGGCTCCAATGCCGTC	0.682													3	11					0.000602214	0.000615208	1	0	A	2339481	C	A	2339481	3	1	58	1	0	0	0	0	1	0	0	0	33	855	30	2	2516	2	ABCA3	16	2339481	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	100426	2339481	88015272	758	11350											
SRRM2	23524	broad.mit.edu	37	chr16	2814163	2814163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cacttagaaccccgccaaggGaaagaagtggtgctgggtca	12	6	13	10	1	1	2	1	0	0	2	1	3	1	3	3	3	2	1	3	3	5	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2814163G>C	ENST00000301740.8	+	11	4183	c.3634G>C	c.(3634-3636)Gaa>Caa	p.E1212Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1212	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCGCCAAGGGAAAGAAGTGG	0.453													68	150					0	0	0	0	C	2814163	G	C	2814163	3	2	58	1	0	0	0	0	1	0	0	0	15259	1175	41	2	3672	2	SRRM2	16	2814163	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	474682	2814163	87540590	759	11351											
TFAP4	7023	broad.mit.edu	37	chr16	4310485	4310485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctgctgctgttcccgctCcagcttctcctggtgcagca	4	11	10	16	1	1	0	0	0	1	0	4	0	3	0	3	1	6	8	3	1	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4310485C>T	ENST00000204517.6	-	5	965	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	213	Gln-rich.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						tgttcccgctccagcttctcc	0.647													4	14					0	0	0	0	T	4310485	C	T	4310485	3	4	58	1	0	0	0	0	1	0	0	0	15886	864	30	2	391	2	TFAP4	16	4310485	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1496322	4310485	86044268	760	11352											
C16orf71	146562	broad.mit.edu	37	chr16	4797506	4797506	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaagcaacacatgaagctCtgtgccaaggggcagagcgc	13	4	14	10	1	1	2	0	1	1	1	1	3	1	3	1	3	5	3	1	3	4	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4797506C>G	ENST00000299320.5	+	9	1921	c.1443C>G	c.(1441-1443)ctC>ctG	p.L481L	C16orf71_ENST00000590191.1_Silent_p.L498L|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	481										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						ACATGAAGCTCTGTGCCAAGG	0.677													22	39					0	0	0	0	G	4797506	C	G	4797506	2	3	58	1	0	0	0	0	0	0	0	1	1843	900	32	2		2	C16orf71	16	4797506	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	487021	4797506	85557247	761	11353											
PPL	5493	broad.mit.edu	37	chr16	4940880	4940880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcaagttctgctccacctCacccaggagggacttctggg	7	9	11	14	0	3	0	1	0	2	0	4	2	4	2	3	3	2	3	3	3	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4940880C>T	ENST00000345988.2	-	17	2100	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	PPL_ENST00000590782.2_Missense_Mutation_p.E669K	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	671					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCTCCACCTCACCCAGGAGG	0.677													4	6					0	0	0	0	T	4940880	C	T	4940880	3	4	58	1	0	0	0	0	1	0	0	0	12410	835	29	2	3283	2	PPL	16	4940880	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	143374	4940880	85413873	762	11354											
PPL	5493	broad.mit.edu	37	chr16	4944472	4944472	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctttgcccttgtacctgtCagccagagccagggcctcag	6	9	11	15	0	2	1	2	0	0	1	2	1	2	1	6	1	4	1	6	1	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4944472C>G	ENST00000345988.2	-	12	1479	c.1390G>C	c.(1390-1392)Gac>Cac	p.D464H	PPL_ENST00000590782.2_Missense_Mutation_p.D462H	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	464					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TTGTACCTGTCAGCCAGAGCC	0.627													25	57					0	0	0	0	G	4944472	C	G	4944472	3	3	58	1	0	0	0	0	1	0	0	0	12410	826	29	2	3924	2	PPL	16	4944472	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3592	4944472	85410281	763	11355											
BFAR	51283	broad.mit.edu	37	chr16	14755859	14755859	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgacaccttcctacctttCatccacaccatctgccctct	8	11	2	20	1	3	0	1	0	2	0	5	1	5	0	7	0	2	0	7	0	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:14755859C>T	ENST00000261658.2	+	6	1171	c.894C>T	c.(892-894)ttC>ttT	p.F298F	BFAR_ENST00000426842.2_Silent_p.F170F|BFAR_ENST00000563971.1_Silent_p.F173F	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	298					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TCCTACCTTTCATCCACACCA	0.542													76	212					0	0	0	0	T	14755859	C	T	14755859	2	4	58	1	0	0	0	0	0	0	0	1	1419	825	29	2		2	BFAR	16	14755859	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	9811387	14755859	75598894	764	11356											
PDXDC1	23042	broad.mit.edu	37	chr16	15100328	15100328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtaggcttgccattcattCtcgatatgaagacttcgtag	10	14	9	8	2	2	2	1	1	1	1	4	3	2	2	1	1	1	3	1	1	4	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:15100328C>T	ENST00000396410.4	+	6	564	c.467C>T	c.(466-468)tCt>tTt	p.S156F	PDXDC1_ENST00000569715.1_Missense_Mutation_p.S129F|PDXDC1_ENST00000450288.2_Missense_Mutation_p.S128F|PDXDC1_ENST00000535621.2_Missense_Mutation_p.S156F|PDXDC1_ENST00000447912.2_Missense_Mutation_p.S65F|PDXDC1_ENST00000455313.2_Missense_Mutation_p.S156F|PDXDC1_ENST00000563679.1_Missense_Mutation_p.S174F|PDXDC1_ENST00000325823.7_Missense_Mutation_p.S141F	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	156					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCCATTCATTCTCGATATGAA	0.398													46	293					0	0	0	0	T	15100328	C	T	15100328	3	4	58	1	0	0	0	0	1	0	0	0	11767	913	32	2	489	2	PDXDC1	16	15100328	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	344469	15100328	75254425	765	11357											
COQ7	10229	broad.mit.edu	37	chr16	19087180	19087180	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaatacgaggaacttcttCaggtatttatccgtgctcta	13	13	7	8	2	3	0	1	0	2	0	4	2	4	1	1	2	3	2	1	2	7	7	rs150852870		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:19087180C>T	ENST00000321998.5	+	4	571	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	COQ7_ENST00000569127.1_Nonsense_Mutation_p.Q146*|COQ7_ENST00000568985.1_Nonsense_Mutation_p.Q169*|COQ7_ENST00000544894.2_Nonsense_Mutation_p.Q131*	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	169	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						GGAACTTCTTCAGGTATTTAT	0.488													19	66					0	0	0	0	T	19087180	C	T	19087180	4	4	58	1	0	0	0	0	0	1	0	0	3780	827	29	2	519	2	COQ7	16	19087180	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3986852	19087180	71267573	766	11358											
ACSM2B	348158	broad.mit.edu	37	chr16	20570614	20570614	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggcactcggggcagcatCactgccacacgatccccacg	9	5	10	17	3	2	0	2	0	0	0	4	1	3	0	3	3	2	3	3	3	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:20570614C>G	ENST00000329697.6	-	3	501	c.333G>C	c.(331-333)gtG>gtC	p.V111V	ACSM2B_ENST00000567001.1_Silent_p.V111V|ACSM2B_ENST00000565232.1_Silent_p.V111V|ACSM2B_ENST00000565322.1_Silent_p.V32V|ACSM2B_ENST00000414188.2_Silent_p.V111V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	111					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGGGCAGCATCACTGCCACAC	0.552													15	36					0	0	0	0	G	20570614	C	G	20570614	2	3	58	1	0	0	0	0	0	0	0	1	184	813	29	2		2	ACSM2B	16	20570614	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1483434	20570614	69784139	767	11359											
DNAH3	55567	broad.mit.edu	37	chr16	20944735	20944735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagattccccaatctgcatcGttttcctgtcccaacgggca	8	11	8	14	2	1	1	0	0	1	1	5	2	4	1	4	1	2	3	4	1	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:20944735G>A	ENST00000261383.3	-	62	12091	c.12092C>T	c.(12091-12093)aCg>aTg	p.T4031M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4031					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATCTGCATCGTTTTCCTGTC	0.507													52	133					0	0	0	0	A	20944735	G	A	20944735	3	1	58	1	0	0	0	0	1	0	0	0	4640	1145	40	1	261	1	DNAH3	16	20944735	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	374121	20944735	69410018	768	11360											
DNAH3	55567	broad.mit.edu	37	chr16	20975168	20975168	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatggtcaatgatgtacttGatgcgcagattcagttcctc	11	13	9	8	1	2	3	2	2	0	1	4	3	3	3	1	1	2	3	1	1	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:20975168G>C	ENST00000261383.3	-	53	10037	c.10038C>G	c.(10036-10038)atC>atG	p.I3346M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3346					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGATGTACTTGATGCGCAGAT	0.483													40	135					0	0	0	0	C	20975168	G	C	20975168	3	2	58	1	0	0	0	0	1	0	0	0	4640	1280	45	2	2351	2	DNAH3	16	20975168	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	30433	20975168	69379585	769	11361											
ERN2	10595	broad.mit.edu	37	chr16	23706664	23706664	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgaaccaggccaaagcactCgcggaggagccgcttgacag	11	3	13	14	4	0	1	0	1	0	0	1	4	0	3	4	3	3	2	4	3	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:23706664C>G	ENST00000256797.4	-	15	1969	c.1801G>C	c.(1801-1803)Gag>Cag	p.E601Q	ERN2_ENST00000457008.2_Missense_Mutation_p.E501Q	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	553	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCAAAGCACTCGCGGAGGAGC	0.627													5	12					0	0	0	0	G	23706664	C	G	23706664	3	3	58	1	0	0	0	0	1	0	0	0	5276	893	31	3	1155	3	ERN2	16	23706664	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2731496	23706664	66648089	770	11362											
ARHGAP17	55114	broad.mit.edu	37	chr16	24958901	24958901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctgagcaagctttgcaagGaacttgatcaaatatctagg	13	11	10	7	0	3	2	1	2	2	0	3	3	3	3	0	2	4	3	0	2	6	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:24958901G>T	ENST00000289968.6	-	14	1212	c.1143C>A	c.(1141-1143)ttC>ttA	p.F381L	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.F381L|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	381	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCTTTGCAAGGAACTTGATCA	0.468													20	98					1.40151e-16	1.48601e-16	1	0	T	24958901	G	T	24958901	3	4	58	1	0	0	0	0	1	0	0	0	869	1165	41	2	1530	2	ARHGAP17	16	24958901	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1252237	24958901	65395852	771	11363											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251184	25251184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcccttatgtgggttctCagggcaatacagagatggag	9	12	12	8	0	1	1	1	0	1	1	3	3	2	2	1	3	1	2	1	3	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:25251184C>T	ENST00000328086.7	-	7	3660	c.2857G>A	c.(2857-2859)Gag>Aag	p.E953K		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	953					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTGGGTTCTCAGGGCAATAC	0.423													50	159					0	0	0	0	T	25251184	C	T	25251184	3	4	58	1	0	0	0	0	1	0	0	0	17782	835	29	2	50	2	ZKSCAN2	16	25251184	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	292283	25251184	65103569	772	11364											
HS3ST4	9951	broad.mit.edu	37	chr16	26147555	26147555	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttcagtgggaacaggaaGagggtgataaatgaggctag	14	9	15	3	0	1	3	1	2	0	1	1	5	1	5	0	4	1	1	0	4	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:26147555G>C	ENST00000331351.5	+	2	1749	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	453					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GGAACAGGAAGAGGGTGATAA	0.463													7	30					0	0	0	0	C	26147555	G	C	26147555	3	2	58	1	0	0	0	0	1	0	0	0	7417	943	33	2	1363	2	HS3ST4	16	26147555	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	896371	26147555	64207198	773	11365											
CD19	930	broad.mit.edu	37	chr16	28943860	28943860	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaacagatggggggcttCtacctgtgccagccggggcc	6	8	14	13	1	2	1	1	0	2	1	3	1	2	1	4	5	4	1	4	5	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:28943860C>A	ENST00000538922.1	+	2	344	c.282C>A	c.(280-282)ttC>ttA	p.F94L	CD19_ENST00000324662.3_Missense_Mutation_p.F94L|CD19_ENST00000567541.1_Missense_Mutation_p.F94L	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	94	Ig-like C2-type 1.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						TGGGGGGCTTCTACCTGTGCC	0.642													6	34					0.217242	0.219021	1	0	A	28943860	C	A	28943860	3	1	58	1	0	0	0	0	1	0	0	0	3002	912	32	2	288	2	CD19	16	28943860	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2796305	28943860	61410893	774	11366											
GDPD3	79153	broad.mit.edu	37	chr16	30123849	30123849	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcccttgctctcacctggaGagaagtaaacctccagcttc	10	9	8	14	0	1	1	1	0	1	1	4	3	2	2	4	1	4	3	4	1	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:30123849G>C	ENST00000406256.3	-	4	736	c.359C>G	c.(358-360)tCt>tGt	p.S120C		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	120	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						CTCACCTGGAGAGAAGTAAAC	0.612											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	87					0	0	0	0	C	30123849	G	C	30123849	3	2	58	1	0	0	0	0	1	0	0	0	6376	942	33	2	625	2	GDPD3	16	30123849	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1179989	30123849	60230904	775	11367											
SRCAP	10847	broad.mit.edu	37	chr16	30712176	30712176	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccctcccctgctcaccctCagctcccagtcctacagaca	7	7	5	22	0	2	1	2	0	0	1	5	1	5	1	7	0	3	2	7	0	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:30712176C>T	ENST00000262518.4	+	3	416	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.Q11*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.Q11*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	11					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGCTCACCCTCAGCTCCCAGT	0.552													23	90					0	0	0	0	T	30712176	C	T	30712176	4	4	58	1	0	0	0	0	0	1	0	0	15225	827	29	2	33	2	SRCAP	16	30712176	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	588327	30712176	59642577	776	11368											
FUS	2521	broad.mit.edu	37	chr16	31193962	31193962	+	Frame_Shift_Del	DEL	C	C	-																															ctatggccagagcagctattCttcttatggccagagccaga																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:31193962delC	ENST00000254108.7	+	3	272	c.167delC	c.(166-168)ttfs	p.S57fs	FUS_ENST00000568685.1_Frame_Shift_Del_p.S57fs|RP11-388M20.6_ENST00000564743.1_RNA|FUS_ENST00000380244.3_Frame_Shift_Del_p.S57fs	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	57	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		AGCAGCTATTCTTCTTATGGC	0.493			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								7	213	---	---	---	---					-	31193962	C	-	31193962	7	5	58	1	0	1	0	1	0	0	0	0	6148	913	32	0	177	0	FUS	16	31193962	Frame_Shift_Del	DEL	C	TCGA-CN-4723-01A-01D-1434-08	481786	31193962	59160791	777	11369											
ITGAM	3684	broad.mit.edu	37	chr16	31342510	31342510	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccaaagtggagccgttcGaggtccccaaccccctgccg	9	5	11	16	3	0	1	0	0	0	1	2	3	1	2	7	2	3	1	7	2	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:31342510G>T	ENST00000544665.3	+	29	3375	c.3304G>T	c.(3304-3306)Gag>Tag	p.E1102*	ITGAM_ENST00000287497.8_Nonsense_Mutation_p.E1101*	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1101					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GGAGCCGTTCGAGGTCCCCAA	0.667													13	34					1.05317e-09	1.09683e-09	1	0	T	31342510	G	T	31342510	4	4	58	1	0	0	0	0	0	1	0	0	7940	1059	37	3	3418	3	ITGAM	16	31342510	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	148548	31342510	59012243	778	11370											
MYLK3	91807	broad.mit.edu	37	chr16	46763019	46763019	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtggctgagctggttcatGatgttgatctcgttcttcac	6	15	11	9	2	4	3	2	3	2	0	5	3	4	3	0	2	1	5	0	2	0	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:46763019G>A	ENST00000394809.4	-	7	1804	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	MYLK3_ENST00000536476.1_Silent_p.I222I	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	563	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCTGGTTCATGATGTTGATCT	0.537													35	101					0	0	0	0	A	46763019	G	A	46763019	2	1	58	1	0	0	0	0	0	0	0	1	10128	1280	45	2		2	MYLK3	16	46763019	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	15420509	46763019	43591734	779	11371											
ITFG1	81533	broad.mit.edu	37	chr16	47488014	47488014	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcagaaggacatccatttGagaatctccatcataatccc	13	11	6	11	0	3	2	2	1	1	2	6	4	5	3	3	1	0	0	3	1	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:47488014G>A	ENST00000320640.6	-	3	565	c.337C>T	c.(337-339)Caa>Taa	p.Q113*	ITFG1_ENST00000544001.2_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	113						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				ACATCCATTTGAGAATCTCCA	0.363													44	179					0	0	0	0	A	47488014	G	A	47488014	4	1	58	1	0	0	0	0	0	1	0	0	7922	1299	45	2	1565	2	ITFG1	16	47488014	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	724995	47488014	42866739	780	11372											
N4BP1	9683	broad.mit.edu	37	chr16	48596001	48596001	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtgtgagtgtcaaaagttCttttttcaaggaagtgggca	10	15	12	4	0	3	1	2	1	1	0	3	2	3	2	0	2	0	2	0	2	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:48596001C>G	ENST00000262384.3	-	2	789	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	185					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GTCAAAAGTTCTTTTTTCAAG	0.368													19	74					0	0	0	0	G	48596001	C	G	48596001	3	3	58	1	0	0	0	0	1	0	0	0	10179	922	32	2	2161	2	N4BP1	16	48596001	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1107987	48596001	41758752	781	11373											
N4BP1	9683	broad.mit.edu	37	chr16	48596101	48596101	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttcacctctgattctttCtgactactgggtaggttctc	5	18	7	11	0	5	2	1	2	4	0	6	2	5	2	1	2	1	2	1	2	2	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:48596101C>T	ENST00000262384.3	-	2	689	c.453G>A	c.(451-453)caG>caA	p.Q151Q	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	151					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CTGATTCTTTCTGACTACTGG	0.398													27	117					0	0	0	0	T	48596101	C	T	48596101	2	4	58	1	0	0	0	0	0	0	0	1	10179	912	32	2		2	N4BP1	16	48596101	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	100	48596101	41758652	782	11374											
CYLD	1540	broad.mit.edu	37	chr16	50783939	50783939	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaattgtgaggagaggttCagcctgtttaaaaacagaaa	16	9	10	6	0	1	3	1	1	0	2	1	4	1	3	2	2	2	2	2	2	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:50783939C>A	ENST00000540145.1	+	4	745	c.330C>A	c.(328-330)ttC>ttA	p.F110L	CYLD_ENST00000568704.2_Missense_Mutation_p.F110L|CYLD_ENST00000311559.9_Missense_Mutation_p.F110L|CYLD_ENST00000566206.1_Missense_Mutation_p.F110L|CYLD_ENST00000564326.1_Missense_Mutation_p.F110L|CYLD_ENST00000569418.1_Missense_Mutation_p.F110L|CYLD_ENST00000427738.3_Missense_Mutation_p.F110L|CYLD_ENST00000398568.2_Missense_Mutation_p.F110L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	110	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGGAGAGGTTCAGCCTGTTTA	0.398			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				34	95					5.90632e-09	6.14078e-09	1	0	A	50783939	C	A	50783939	3	1	58	1	0	0	0	0	1	0	0	0	4175	825	29	2	332	2	CYLD	16	50783939	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2187838	50783939	39570814	783	11375											
CETP	1071	broad.mit.edu	37	chr16	56996944	56996944	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccacgagactgccaaggtGatccagaccgccttccagcg	11	5	10	15	3	0	3	0	1	0	2	2	4	2	3	6	1	3	0	6	1	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:56996944G>C	ENST00000200676.3	+	2	271	c.141G>C	c.(139-141)gtG>gtC	p.V47V	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000566128.1_5'UTR|CETP_ENST00000379780.2_Silent_p.V47V	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	47					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CTGCCAAGGTGATCCAGACCG	0.617													19	86					0	0	0	0	C	56996944	G	C	56996944	2	2	58	1	0	0	0	0	0	0	0	1	3306	1277	45	2		2	CETP	16	56996944	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	6213005	56996944	33357809	784	11376											
RANBP10	57610	broad.mit.edu	37	chr16	67760383	67760383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaagaacccaggcctgctCgggccatgagccggagacac	11	3	13	14	2	0	3	0	1	0	2	1	4	0	3	4	3	4	2	4	3	2	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:67760383C>T	ENST00000317506.3	-	14	1926	c.1811G>A	c.(1810-1812)cGa>cAa	p.R604Q	RANBP10_ENST00000411657.2_Missense_Mutation_p.R517Q|RANBP10_ENST00000536251.1_Missense_Mutation_p.R375Q|RANBP10_ENST00000448631.2_Missense_Mutation_p.R578Q|RANBP10_ENST00000602677.1_Missense_Mutation_p.R634Q	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	604										endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CAGGCCTGCTCGGGCCATGAG	0.622													3	22					0	0	0	0	T	67760383	C	T	67760383	3	4	58	1	0	0	0	0	1	0	0	0	13108	884	31	1	55	1	RANBP10	16	67760383	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	10763439	67760383	22594370	785	11377											
HAS3	3038	broad.mit.edu	37	chr16	69148601	69148601	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtcttacttccgggagtGgctctacaactctctgtggt	7	13	10	11	1	3	0	0	0	3	0	5	1	4	1	1	3	3	1	1	3	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:69148601G>A	ENST00000306560.1	+	4	1250	c.1094G>A	c.(1093-1095)tGg>tAg	p.W365*	HAS3_ENST00000569188.1_Nonsense_Mutation_p.W365*|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	365					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TTCCGGGAGTGGCTCTACAAC	0.547													4	183					0	0	0	0	A	69148601	G	A	69148601	4	1	58	1	0	0	0	0	0	1	0	0	7013	1357	47	4	1104	4	HAS3	16	69148601	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1388218	69148601	21206152	786	11378											
CLEC18C	283971	broad.mit.edu	37	chr16	70211291	70211291	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggcttggcgtcctttgttGaagtggtcagcctatggttt	4	15	14	8	2	1	1	1	1	0	0	2	1	2	1	2	4	1	3	2	4	2	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:70211291G>C	ENST00000569347.2	+	3	618	c.364G>C	c.(364-366)Gaa>Caa	p.E122Q	CLEC18C_ENST00000314151.8_Missense_Mutation_p.E122Q|CLEC18C_ENST00000541793.2_Missense_Mutation_p.E122Q|CLEC18C_ENST00000536907.2_Missense_Mutation_p.E122Q|CLEC18C_ENST00000561612.1_Intron	NM_173619.2	NP_775890.2			C-type lectin domain family 18, member C											endometrium(3)|large_intestine(6)|lung(1)	10						GTCCTTTGTTGAAGTGGTCAG	0.647													21	79					0	0	0	0	C	70211291	G	C	70211291	3	2	58	1	0	0	0	0	1	0	0	0	3534	1291	45	2	374	2	CLEC18C	16	70211291	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1062690	70211291	20143462	787	11379											
HYDIN	54768	broad.mit.edu	37	chr16	71054110	71054110	+	Silent	SNP	C	C	T																															ggcagcagggatttatcagtCtcacatataaagaagggtcc																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:71054110C>T	ENST00000393567.2	-	22	3447	c.3297G>A	c.(3295-3297)gaG>gaA	p.E1099E	HYDIN_ENST00000448089.2_Silent_p.E1051E	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1099										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTTATCAGTCTCACATATAA	0.502													9	25					0	0	0	0	T	71054110	C	T	71054110	2	4	58	1	0	0	0	0	0	0	0	1	7520	912	32	2		2	HYDIN	16	71054110	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	842819	71054110	19300643	788	11380	98	2									
HYDIN	54768	broad.mit.edu	37	chr16	71054112	71054112	+	Missense_Mutation	SNP	C	C	T																															cagcagggatttatcagtctCacatataaagaagggtccag																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:71054112C>T	ENST00000393567.2	-	22	3445	c.3295G>A	c.(3295-3297)Gag>Aag	p.E1099K	HYDIN_ENST00000448089.2_Missense_Mutation_p.E1051K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1099								p.E1051Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTATCAGTCTCACATATAAAG	0.507													10	24					0	0	0	0	T	71054112	C	T	71054112	3	4	58	1	0	0	0	0	1	0	0	0	7520	835	29	2	12327	2	HYDIN	16	71054112	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2	71054112	19300641	789	11381	98	2									
CALB2	794	broad.mit.edu	37	chr16	71418697	71418697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttgcagggcatgaagctGacctcagaggagtttaacgc	10	10	12	9	1	2	3	1	2	1	1	2	4	2	4	1	2	3	4	1	2	2	4	rs143688092		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:71418697G>A	ENST00000302628.4	+	9	662	c.585G>A	c.(583-585)ctG>ctA	p.L195L	CALB2_ENST00000349553.5_Intron	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	195	EF-hand 5.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCATGAAGCTGACCTCAGAGG	0.502													52	132					0	0	0	0	A	71418697	G	A	71418697	2	1	58	1	0	0	0	0	0	0	0	1	2599	1277	45	2		2	CALB2	16	71418697	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	364585	71418697	18936056	790	11382											
GLG1	2734	broad.mit.edu	37	chr16	74516954	74516954	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgaaatactgcagctctAagagacggtgttcacagtct	13	10	10	8	1	3	3	1	1	2	2	3	4	3	3	0	1	3	3	0	1	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:74516954A>G	ENST00000422840.2	-	10	1639	c.1640T>C	c.(1639-1641)tTa>tCa	p.L547S	GLG1_ENST00000447066.2_Missense_Mutation_p.L536S|GLG1_ENST00000205061.5_Missense_Mutation_p.L547S	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	547						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CTGCAGCTCTAAGAGACGGTG	0.403													35	96					0	0	0	0	G	74516954	A	G	74516954	3	3	58	1	0	0	0	0	1	0	0	0	6487	372	13	5	2047	5	GLG1	16	74516954	Missense_Mutation	SNP	A	TCGA-CN-4723-01A-01D-1434-08	3098257	74516954	15837799	791	11383											
VAT1L	57687	broad.mit.edu	37	chr16	77859251	77859251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgacatgagcttctccgagGctgctgcattccccatgaac	9	10	9	13	1	1	3	0	3	1	0	3	4	2	3	3	1	4	4	3	1	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:77859251G>A	ENST00000302536.2	+	3	625	c.472G>A	c.(472-474)Gct>Act	p.A158T		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	158							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTTCTCCGAGGCTGCTGCATT	0.537													19	63					0	0	0	0	A	77859251	G	A	77859251	3	1	58	1	0	0	0	0	1	0	0	0	17226	1203	42	4	482	4	VAT1L	16	77859251	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3342297	77859251	12495502	792	11384											
MBTPS1	8720	broad.mit.edu	37	chr16	84125404	84125404	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtttaacacgtcgatcttcTttaaaatggcatagttgaag	12	14	9	6	2	2	1	0	1	2	0	3	2	2	1	0	2	1	3	0	2	5	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:84125404T>C	ENST00000343411.3	-	7	1391	c.896A>G	c.(895-897)aAg>aGg	p.K299R	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	299	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTCGATCTTCTTTAAAATGGC	0.423													15	83					0	0	0	0	C	84125404	T	C	84125404	3	2	58	1	0	0	0	0	1	0	0	0	9430	1609	56	5	2330	5	MBTPS1	16	84125404	Missense_Mutation	SNP	T	TCGA-CN-4723-01A-01D-1434-08	6266153	84125404	6229349	793	11385											
FOXC2	2303	broad.mit.edu	37	chr16	86601587	86601587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaggtggtgatcaagagcGaggcggcgtccccggcgctg	8	5	18	10	5	1	3	1	1	0	2	2	4	2	3	2	5	1	1	2	5	2	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:86601587G>A	ENST00000320354.4	+	1	731	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	216					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GATCAAGAGCGAGGCGGCGTC	0.756									Late-onset Hereditary Lymphedema				4	2					0	0	0	0	A	86601587	G	A	86601587	3	1	58	1	0	0	0	0	1	0	0	0	6040	1059	37	1	648	1	FOXC2	16	86601587	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2476183	86601587	3753166	794	11386											
PRPF8	10594	broad.mit.edu	37	chr17	1586884	1586884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtcatgtctccatggtctCgaatgatcttcctgacatgt	7	15	9	10	1	4	2	1	2	3	0	7	3	5	2	2	2	0	0	2	2	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:1586884C>T	ENST00000572621.1	-	2	477	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	PRPF8_ENST00000304992.6_Missense_Mutation_p.R71Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	71						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCCATGGTCTCGAATGATCTT	0.473													59	160					0	0	0	0	T	1586884	C	T	1586884	3	4	58	1	0	0	0	0	1	0	0	0	12655	884	31	1	6959	1	PRPF8	17	1586884	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08		1586884	79608326	795	11387											
WDR81	124997	broad.mit.edu	37	chr17	1635682	1635682	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatcagcctcatcgccctCatctgcctgcgcattggaca	8	9	7	17	2	4	0	3	0	1	0	5	1	4	1	4	1	3	1	4	1	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:1635682C>T	ENST00000409644.1	+	5	4221	c.4221C>T	c.(4219-4221)ctC>ctT	p.L1407L	WDR81_ENST00000545662.1_Silent_p.L38L|WDR81_ENST00000437219.2_Silent_p.L204L|WDR81_ENST00000446363.1_Silent_p.L46L|WDR81_ENST00000419248.1_Silent_p.L180L|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Silent_p.L356L	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	180										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCATCGCCCTCATCTGCCTGC	0.597													52	113					0	0	0	0	T	1635682	C	T	1635682	2	4	58	1	0	0	0	0	0	0	0	1	17426	813	29	2		2	WDR81	17	1635682	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	48798	1635682	79559528	796	11388											
TRPV1	7442	broad.mit.edu	37	chr17	3494413	3494413	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttccctgtctcagggtctGaaagacataagggagggtca	10	10	12	9	0	4	2	2	1	3	1	6	3	5	3	1	3	0	0	1	3	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:3494413G>C	ENST00000174621.6	-	3	732	c.443C>G	c.(442-444)tCa>tGa	p.S148*	TRPV1_ENST00000576351.1_Intron|TRPV1_ENST00000571088.1_Intron|TRPV1_ENST00000399756.4_Intron|TRPV1_ENST00000399759.3_Intron|TRPV1_ENST00000310522.5_Intron|TRPV1_ENST00000425167.2_Intron|SHPK_ENST00000572705.1_Intron			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	0					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTCAGGGTCTGAAAGACATAA	0.622													9	23					0	0	0	0	C	3494413	G	C	3494413	4	2	58	1	0	0	0	0	0	1	0	0	16690	1305	45	2		2	TRPV1	17	3494413	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1858731	3494413	77700797	797	11389											
SMTNL2	342527	broad.mit.edu	37	chr17	4498466	4498466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggtgacaccaccccagtCgcccgtgtccccgcagccgc	5	5	11	20	4	0	1	0	1	0	0	2	1	1	1	7	1	1	2	7	1	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:4498466C>T	ENST00000389313.4	+	5	900	c.833C>T	c.(832-834)tCg>tTg	p.S278L	SMTNL2_ENST00000338859.4_Missense_Mutation_p.S134L	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	278										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CCACCCCAGTCGCCCGTGTCC	0.677													15	47					0	0	0	0	T	4498466	C	T	4498466	3	4	58	1	0	0	0	0	1	0	0	0	14904	893	31	1	851	1	SMTNL2	17	4498466	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1004053	4498466	76696744	798	11390											
ZNF232	7775	broad.mit.edu	37	chr17	5012997	5012997	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcccaggtagcctggtctCatactcacaagactgttcct	8	12	8	13	0	2	1	2	0	1	1	5	1	4	1	3	2	2	3	3	2	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:5012997C>G	ENST00000250076.3	-	3	844	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	ZNF232_ENST00000416429.2_Missense_Mutation_p.E37Q|ZNF232_ENST00000575538.1_Intron|ZNF232_ENST00000575898.1_Missense_Mutation_p.E64Q	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	37	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						AGCCTGGTCTCATACTCACAA	0.537													29	91					0	0	0	0	G	5012997	C	G	5012997	3	3	58	1	0	0	0	0	1	0	0	0	17880	835	29	2	1156	2	ZNF232	17	5012997	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	514531	5012997	76182213	799	11391											
ZNF594	84622	broad.mit.edu	37	chr17	5086386	5086386	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgatgtctgatgaggtctGaggtgccctggaaattccta	8	12	12	9	0	2	4	0	4	2	0	3	5	3	5	3	3	1	0	3	3	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:5086386G>C	ENST00000399604.4	-	1	1306	c.1166C>G	c.(1165-1167)tCa>tGa	p.S389*	ZNF594_ENST00000575779.1_Nonsense_Mutation_p.S389*			Q96JF6	ZN594_HUMAN	zinc finger protein 594	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GATGAGGTCTGAGGTGCCCTG	0.438													162	408					0	0	0	0	C	5086386	G	C	5086386	4	2	58	1	0	0	0	0	0	1	0	0	18119	1294	45	2	1261	2	ZNF594	17	5086386	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	73389	5086386	76108824	800	11392											
ZNF594	84622	broad.mit.edu	37	chr17	5087056	5087056	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tataataagatttgaactttGattagagtctttcccacatt	13	17	5	6	0	1	4	0	2	1	2	2	4	2	4	1	0	1	0	1	0	5	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:5087056G>C	ENST00000399604.4	-	1	636	c.496C>G	c.(496-498)Caa>Gaa	p.Q166E	ZNF594_ENST00000575779.1_Missense_Mutation_p.Q166E			Q96JF6	ZN594_HUMAN	zinc finger protein 594	166			Q -> H (in dbSNP:rs59197486).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTGAACTTTGATTAGAGTCT	0.338													29	131					0	0	0	0	C	5087056	G	C	5087056	3	2	58	1	0	0	0	0	1	0	0	0	18119	1299	45	2	1931	2	ZNF594	17	5087056	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	670	5087056	76108154	801	11393											
ACADVL	37	broad.mit.edu	37	chr17	7128359	7128359	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccgcaacttcaaaagcatCtccaaggccttggtggagcg	11	8	10	12	2	2	0	1	0	1	0	3	1	2	1	3	3	4	2	3	3	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:7128359C>T	ENST00000356839.5	+	20	2090	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	ACADVL_ENST00000350303.5_Silent_p.I615I|ACADVL_ENST00000543245.2_Silent_p.I660I	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	637					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						TCAAAAGCATCTCCAAGGCCT	0.617													38	142					0	0	0	0	T	7128359	C	T	7128359	2	4	58	1	0	0	0	0	0	0	0	1	116	903	32	2		2	ACADVL	17	7128359	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2041303	7128359	74066851	802	11394											
C17orf74	201243	broad.mit.edu	37	chr17	7330205	7330205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtccccgtggggcacagcCcttacccctcagtgggctgg	4	7	15	15	1	1	0	1	0	0	0	2	0	2	0	5	5	2	2	5	5	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:7330205C>A	ENST00000333870.3	+	3	969	c.895C>A	c.(895-897)Cct>Act	p.P299T	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	299						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GGGGCACAGCCCTTACCCCTC	0.687													13	62					1.52009e-12	1.59389e-12	1	0	A	7330205	C	A	7330205	3	1	58	1	0	0	0	0	1	0	0	0	1895	623	22	4	905	4	C17orf74	17	7330205	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	201846	7330205	73865005	803	11395											
TP53	7157	broad.mit.edu	37	chr17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggttcatgccgcccatgCaggaactgttacacatgtag	9	10	10	12	2	1	0	1	0	0	0	2	1	2	1	3	2	4	4	3	2	3	3	rs121912655		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:7577556C>A	ENST00000420246.2	-	7	857	c.725G>T	c.(724-726)tGc>tTc	p.C242F	TP53_ENST00000269305.4_Missense_Mutation_p.C242F|TP53_ENST00000445888.2_Missense_Mutation_p.C242F|TP53_ENST00000455263.2_Missense_Mutation_p.C242F|TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000359597.4_Missense_Mutation_p.C242F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGCCCATGCAGGAACTGTT	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			38	46					1.30475e-32	1.4089e-32	1	0	A	7577556	C	A	7577556	3	1	58	1	0	0	0	0	1	0	0	0	16476	710	25	4	565	4	TP53	17	7577556	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	247351	7577556	73617654	804	11396											
MYH10	4628	broad.mit.edu	37	chr17	8413181	8413181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagaatctcctcttccatCttcttgatcttggcctctgc	6	15	6	14	0	6	2	0	1	6	1	8	2	7	2	3	1	2	1	3	1	1	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8413181C>G	ENST00000360416.3	-	25	3177	c.3039G>C	c.(3037-3039)aaG>aaC	p.K1013N	MYH10_ENST00000379980.4_Missense_Mutation_p.K998N|MYH10_ENST00000269243.4_Missense_Mutation_p.K982N|MYH10_ENST00000396239.1_Missense_Mutation_p.K1003N	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	982					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCTCTTCCATCTTCTTGATCT	0.448													53	164					0	0	0	0	G	8413181	C	G	8413181	3	3	58	1	0	0	0	0	1	0	0	0	10100	912	32	2	3060	2	MYH10	17	8413181	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	835625	8413181	72782029	805	11397											
MYH10	4628	broad.mit.edu	37	chr17	8449949	8449949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagtaaactccatcacattCatcccaagaagatggcagag	15	7	8	11	1	2	3	2	0	0	3	4	4	4	3	2	1	1	2	2	1	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8449949C>T	ENST00000360416.3	-	12	1329	c.1191G>A	c.(1189-1191)atG>atA	p.M397I	MYH10_ENST00000379980.4_Missense_Mutation_p.M403I|MYH10_ENST00000269243.4_Missense_Mutation_p.M387I|MYH10_ENST00000396239.1_Missense_Mutation_p.M387I	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	387	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCATCACATTCATCCCAAGAA	0.428													25	62					0	0	0	0	T	8449949	C	T	8449949	3	4	58	1	0	0	0	0	1	0	0	0	10100	826	29	2	4893	2	MYH10	17	8449949	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	36768	8449949	72745261	806	11398											
MYH10	4628	broad.mit.edu	37	chr17	8457276	8457276	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttatgaaaaaggatacatgTttcaatgttggccccaacga	14	12	8	7	1	1	1	1	1	0	0	1	3	1	2	2	2	2	2	2	2	6	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8457276T>C	ENST00000360416.3	-	8	955	c.817A>G	c.(817-819)Aca>Gca	p.T273A	MYH10_ENST00000379980.4_Missense_Mutation_p.T279A|MYH10_ENST00000269243.4_Missense_Mutation_p.T263A|MYH10_ENST00000396239.1_Missense_Mutation_p.T263A	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	263	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGGATACATGTTTCAATGTTG	0.338													105	96					0	0	0	0	C	8457276	T	C	8457276	3	2	58	1	0	0	0	0	1	0	0	0	10100	1725	60	5	5283	5	MYH10	17	8457276	Missense_Mutation	SNP	T	TCGA-CN-4723-01A-01D-1434-08	7327	8457276	72737934	807	11399											
MFSD6L	162387	broad.mit.edu	37	chr17	8700928	8700928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacaaagctgcccaggctaCagccactcccgtaaaagtgg	12	5	10	14	2	0	0	0	0	0	0	1	1	1	0	3	2	4	3	3	2	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8700928C>T	ENST00000329805.4	-	1	1739	c.1511G>A	c.(1510-1512)tGt>tAt	p.C504Y		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	504						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCCCAGGCTACAGCCACTCCC	0.632													18	28					0	0	0	0	T	8700928	C	T	8700928	3	4	58	1	0	0	0	0	1	0	0	0	9605	478	17	4	253	4	MFSD6L	17	8700928	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	243652	8700928	72494282	808	11400											
MYH13	8735	broad.mit.edu	37	chr17	10209920	10209920	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgctggtgtcctgttccttCtttagctcctcagccatcat	4	15	8	14	1	3	0	2	0	1	0	6	0	6	0	4	1	2	3	4	1	1	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10209920C>G	ENST00000418404.3	-	36	5485	c.5322G>C	c.(5320-5322)aaG>aaC	p.K1774N	MYH13_ENST00000252172.4_Missense_Mutation_p.K1774N|MYH13_ENST00000570743.1_Missense_Mutation_p.K1774N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1774					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTGTTCCTTCTTTAGCTCCT	0.577													53	126					0	0	0	0	G	10209920	C	G	10209920	3	3	58	1	0	0	0	0	1	0	0	0	10102	912	32	2	514	2	MYH13	17	10209920	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1508992	10209920	70985290	809	11401											
MYH4	4622	broad.mit.edu	37	chr17	10358497	10358497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactggtgataccttggtatGaccgaatttgtactgggtgt	8	14	13	6	1	0	2	0	2	0	0	0	4	0	2	2	3	2	2	2	3	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10358497G>C	ENST00000255381.2	-	20	2400	c.2290C>G	c.(2290-2292)Cat>Gat	p.H764D	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	764	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACCTTGGTATGACCGAATTTG	0.383													3	151					0	0	0	0	C	10358497	G	C	10358497	3	2	58	1	0	0	0	0	1	0	0	0	10107	1290	45	2	3613	2	MYH4	17	10358497	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	148577	10358497	70836713	810	11402											
MYH1	4619	broad.mit.edu	37	chr17	10415430	10415430	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggtgacatactcattgccGaccttgaccctagggtagca	9	11	10	11	1	1	2	1	2	0	0	1	3	1	2	3	2	3	2	3	2	3	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10415430G>A	ENST00000226207.5	-	13	1321	c.1227C>T	c.(1225-1227)gtC>gtT	p.V409V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	409	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACTCATTGCCGACCTTGACCC	0.458													133	321					0	0	0	0	A	10415430	G	A	10415430	2	1	58	1	0	0	0	0	0	0	0	1	10099	1045	37	1		1	MYH1	17	10415430	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	56933	10415430	70779780	811	11403											
MYH2	4620	broad.mit.edu	37	chr17	10428570	10428570	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctaaagcagcctgaagttCacacttttcttgttccactt	9	16	5	11	0	3	1	1	1	2	0	4	1	4	1	2	0	2	3	2	0	3	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10428570C>G	ENST00000245503.5	-	33	5017	c.4633G>C	c.(4633-4635)Gaa>Caa	p.E1545Q	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1545Q	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1545					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCTGAAGTTCACACTTTTCT	0.363													35	152					0	0	0	0	G	10428570	C	G	10428570	3	3	58	1	0	0	0	0	1	0	0	0	10105	835	29	2	1224	2	MYH2	17	10428570	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	13140	10428570	70766640	812	11404											
MYH2	4620	broad.mit.edu	37	chr17	10441071	10441071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttcttgtactcctcctgctCcagcacgaacatgtggtggt	6	13	9	13	1	1	0	0	0	1	0	4	1	4	0	3	2	4	3	3	2	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10441071C>G	ENST00000245503.5	-	15	1882	c.1498G>C	c.(1498-1500)Gag>Cag	p.E500Q	MYH2_ENST00000532183.1_Missense_Mutation_p.E500Q|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E500Q	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	500	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTCCTGCTCCAGCACGAAC	0.483													82	196					0	0	0	0	G	10441071	C	G	10441071	3	3	58	1	0	0	0	0	1	0	0	0	10105	864	30	2	4431	2	MYH2	17	10441071	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	12501	10441071	70754139	813	11405											
DNAH9	1770	broad.mit.edu	37	chr17	11631206	11631206	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgatgagtttaatcgaatCtccgtggaggtcttgtcagt	8	16	11	6	2	3	2	1	2	2	0	5	4	3	3	1	2	0	1	1	2	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:11631206C>T	ENST00000262442.3	+	28	5849	c.5781C>T	c.(5779-5781)atC>atT	p.I1927I	DNAH9_ENST00000454412.2_Silent_p.I1927I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1927	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTAATCGAATCTCCGTGGAGG	0.478													23	69					0	0	0	0	T	11631206	C	T	11631206	2	4	58	1	0	0	0	0	0	0	0	1	4644	903	32	2		2	DNAH9	17	11631206	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1190135	11631206	69564004	814	11406											
DNAH9	1770	broad.mit.edu	37	chr17	11835355	11835355	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctggagatgtgttctcggGagacggagtttaagagcatc	9	11	14	7	2	2	3	0	0	2	3	4	6	2	4	0	3	1	3	0	3	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:11835355G>T	ENST00000262442.3	+	64	12198	c.12130G>T	c.(12130-12132)Gag>Tag	p.E4044*	DNAH9_ENST00000396001.2_Nonsense_Mutation_p.E356*|DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E3968*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4044	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGTTCTCGGGAGACGGAGTT	0.498													119	385					1.74062e-63	1.89452e-63	1	0	T	11835355	G	T	11835355	4	4	58	1	0	0	0	0	0	1	0	0	4644	1175	41	2	12384	2	DNAH9	17	11835355	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	204149	11835355	69359855	815	11407											
MYOCD	93649	broad.mit.edu	37	chr17	12666707	12666707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacctcttcaatgcacatGagatcttgccaggccccctc	10	9	7	15	0	3	2	1	1	2	2	4	3	3	2	4	1	2	1	4	1	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:12666707G>A	ENST00000425538.1	+	14	2907	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.E855K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	855					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.E903K(1)|p.E855K(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAATGCACATGAGATCTTGCC	0.498													23	66					0	0	0	0	A	12666707	G	A	12666707	3	1	58	1	0	0	0	0	1	0	0	0	10157	1291	45	2	2773	2	MYOCD	17	12666707	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	831352	12666707	68528503	816	11408											
MPRIP	23164	broad.mit.edu	37	chr17	17062051	17062051	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggcgggaggagcgccgcaAgcgcttcgggatgctcgacg	7	4	19	11	7	0	0	0	0	0	0	2	5	0	3	1	4	3	3	1	4	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:17062051A>T	ENST00000395811.5	+	14	1870	c.1781A>T	c.(1780-1782)aAg>aTg	p.K594M	MPRIP_ENST00000444976.1_Missense_Mutation_p.K556M|MPRIP_ENST00000341712.4_Missense_Mutation_p.K594M|MPRIP_ENST00000395804.3_Missense_Mutation_p.K594M	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	594	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding	p.R587_G597delRRREERRKRFG(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GAGCGCCGCAAGCGCTTCGGG	0.731													18	41					0	0	0	0	T	17062051	A	T	17062051	3	4	58	1	0	0	0	0	1	0	0	0	9813	72	3	5	1835	5	MPRIP	17	17062051	Missense_Mutation	SNP	A	TCGA-CN-4723-01A-01D-1434-08	4395344	17062051	64133159	817	11409											
MYO15A	51168	broad.mit.edu	37	chr17	18077224	18077224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagcgcaccttgcagctgCagctggagcaggtgggccca	7	5	14	15	1	0	0	0	0	0	0	0	1	0	1	3	3	6	6	3	3	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:18077224C>A	ENST00000205890.5	+	65	10818	c.10480C>A	c.(10480-10482)Cag>Aag	p.Q3494K	MYO15A_ENST00000418233.3_Missense_Mutation_p.Q758K|MYO15A_ENST00000451725.2_Intron|RP11-258F1.1_ENST00000577847.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3494	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTGCAGCTGCAGCTGGAGCA	0.662													17	35					9.7654e-05	0.000100177	1	0	A	18077224	C	A	18077224	3	1	58	1	0	0	0	0	1	0	0	0	10133	711	25	4	10730	4	MYO15A	17	18077224	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1015173	18077224	63117986	818	11410											
LGALS9C	654346	broad.mit.edu	37	chr17	18396112	18396112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccagatcaacaactcttGggggtctgaggagcgaagtc	11	7	12	11	1	3	2	1	1	2	1	4	4	3	3	1	3	3	0	1	3	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:18396112G>T	ENST00000328114.6	+	10	944	c.863G>T	c.(862-864)tGg>tTg	p.W288L	LGALS9C_ENST00000583322.1_Missense_Mutation_p.W255L|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000412421.2_Missense_Mutation_p.W200L	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	288	Beta-galactoside binding 2 (By similarity).|Galectin 2.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						AACAACTCTTGGGGGTCTGAG	0.572													3	63					0.00010058	0.000103092	1	0	T	18396112	G	T	18396112	3	4	58	1	0	0	0	0	1	0	0	0	8804	1357	47	4	901	4	LGALS9C	17	18396112	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	318888	18396112	62799098	819	11411											
SLC47A1	55244	broad.mit.edu	37	chr17	19470501	19470501	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgtggttggcctccccatCgggatcgcgctgatgtttgc	4	13	13	11	3	0	1	0	1	0	0	3	2	1	2	3	3	1	3	3	3	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:19470501C>T	ENST00000270570.4	+	14	1355	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	SLC47A1_ENST00000436810.2_Silent_p.I400I|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000457293.1_Silent_p.I423I|SLC47A1_ENST00000571335.1_Silent_p.I228I|SLC47A1_ENST00000395585.1_Silent_p.I423I	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	423						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GCCTCCCCATCGGGATCGCGC	0.557													90	198					0	0	0	0	T	19470501	C	T	19470501	2	4	58	1	0	0	0	0	0	0	0	1	14735	874	31	1		1	SLC47A1	17	19470501	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1074389	19470501	61724709	820	11412											
LGALS9B	284194	broad.mit.edu	37	chr17	20354855	20354855	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcgctcctcagaccccCaagagttgttgatctgggtg	7	11	11	12	1	2	3	1	1	1	2	4	4	3	3	3	1	0	3	3	1	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:20354855C>A	ENST00000423676.3	-	10	926	c.863G>T	c.(862-864)tGg>tTg	p.W288L	LGALS9B_ENST00000324290.5_Missense_Mutation_p.W287L			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	288	Beta-galactoside binding 2 (By similarity).|Galectin 2.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CTCAGACCCCCAAGAGTTGTT	0.572													20	53					4.3181e-19	4.59428e-19	1	0	A	20354855	C	A	20354855	3	1	58	1	0	0	0	0	1	0	0	0	8803	595	21	4	215	4	LGALS9B	17	20354855	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	884354	20354855	60840355	821	11413											
KCNJ12	3768	broad.mit.edu	37	chr17	21319636	21319636	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgtggggtcaccgctttGagcccgtgctcttcgaggag	4	11	14	12	3	2	1	1	1	1	0	4	3	3	2	3	3	2	2	3	3	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:21319636G>C	ENST00000583088.1	+	3	1877	c.982G>C	c.(982-984)Gag>Cag	p.E328Q	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E328Q	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TCACCGCTTTGAGCCCGTGCT	0.592										Prostate(3;0.18)			23	188					0	0	0	0	C	21319636	G	C	21319636	3	2	58	1	0	0	0	0	1	0	0	0	8099	1291	45	2	984	2	KCNJ12	17	21319636	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	964781	21319636	59875574	822	11414											
NOS2	4843	broad.mit.edu	37	chr17	26114705	26114705	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaggaggcaagccttactCtttgaaggagccgtaatatt	11	11	11	8	1	1	1	0	1	1	0	1	3	1	3	2	3	4	3	2	3	5	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:26114705C>G	ENST00000313735.6	-	5	699	c.467_splice	c.e5+1	p.E156_splice		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	156					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AAGCCTTACTCTTTGAAGGAG	0.517													47	118					0	0	0	0	G	26114705	C	G	26114705	5	3	58	1	0	0	0	0	0	0	1	0	10613	927	32	2	3087	2	NOS2	17	26114705	Splice_Site	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4795069	26114705	55080505	823	11415											
SUPT6H	6830	broad.mit.edu	37	chr17	27001330	27001330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaggagaacctagatGatcaggatgagcaaggcaac	16	4	15	6	0	1	4	1	2	0	2	1	8	1	7	1	5	3	2	1	5	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:27001330G>T	ENST00000314616.6	+	3	422	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D47Y	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	47	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAACCTAGATGATCAGGATGA	0.468													17	53					1.37285e-15	1.45063e-15	1	0	T	27001330	G	T	27001330	3	4	58	1	0	0	0	0	1	0	0	0	15490	1290	45	2	145	2	SUPT6H	17	27001330	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	886625	27001330	54193880	824	11416											
TAOK1	57551	broad.mit.edu	37	chr17	27809270	27809270	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacaatatgatggcaaagtaGatgtgtggtctcttggaata	13	12	12	4	0	1	2	0	1	1	1	2	4	1	3	0	3	0	2	0	3	6	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:27809270G>C	ENST00000261716.3	+	8	1138	c.619G>C	c.(619-621)Gat>Cat	p.D207H	TAOK1_ENST00000536202.1_Missense_Mutation_p.D207H	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	207	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TGGCAAAGTAGATGTGTGGTC	0.313													7	183					0	0	0	0	C	27809270	G	C	27809270	3	2	58	1	0	0	0	0	1	0	0	0	15638	942	33	2	645	2	TAOK1	17	27809270	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	807940	27809270	53385940	825	11417											
TMEM132E	124842	broad.mit.edu	37	chr17	32962027	32962027	+	Frame_Shift_Del	DEL	G	G	-																															cctagtcagtgacttcatgcGggtgggcgatccccgagtgg																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:32962027delG	ENST00000321639.5	+	8	1956	c.1628delG	c.(1627-1629)cgfs	p.R543fs		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	543						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GACTTCATGCGGGTGGGCGAT	0.617													23	80	---	---	---	---					-	32962027	G	-	32962027	7	5	58	1	0	1	0	1	0	0	0	0	16142	1116	39	0	1658	0	TMEM132E	17	32962027	Frame_Shift_Del	DEL	G	TCGA-CN-4723-01A-01D-1434-08	5152757	32962027	48233183	826	11418											
CCT6B	10693	broad.mit.edu	37	chr17	33266221	33266221	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatcttcaatggcatttttGatagcacgaagtccatctct	10	14	6	11	1	3	1	1	1	2	0	5	2	4	1	2	1	1	2	2	1	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:33266221G>C	ENST00000314144.5	-	10	1309	c.1194C>G	c.(1192-1194)atC>atG	p.I398M	CCT6B_ENST00000421975.3_Missense_Mutation_p.I361M|CCT6B_ENST00000436961.3_Missense_Mutation_p.I353M	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	398					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TGGCATTTTTGATAGCACGAA	0.363													7	281					0	0	0	0	C	33266221	G	C	33266221	3	2	58	1	0	0	0	0	1	0	0	0	2987	1280	45	2	418	2	CCT6B	17	33266221	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	304194	33266221	47928989	827	11419											
AP2B1	163	broad.mit.edu	37	chr17	33951593	33951593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attacaaccctaaagatgatCgggaggctcagaggtcagtc	13	8	11	9	1	2	3	2	1	0	2	4	4	2	4	1	3	2	1	1	3	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:33951593C>T	ENST00000262325.7	+	6	1256	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	AP2B1_ENST00000592545.1_Missense_Mutation_p.R197W|AP2B1_ENST00000537622.2_Missense_Mutation_p.R235W|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000538556.1_Missense_Mutation_p.R178W|AP2B1_ENST00000589344.1_Missense_Mutation_p.R235W|AP2B1_ENST00000312678.8_Missense_Mutation_p.R235W	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	235					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TAAAGATGATCGGGAGGCTCA	0.448													28	99					0	0	0	0	T	33951593	C	T	33951593	3	4	58	1	0	0	0	0	1	0	0	0	742	875	31	1	721	1	AP2B1	17	33951593	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	685372	33951593	47243617	828	11420											
TBC1D3B	414059	broad.mit.edu	37	chr17	34499237	34499237	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttccgtatcgatccctgaaGaacatatgcttccttaatgt	10	14	7	10	2	0	2	0	1	0	1	4	3	3	2	3	0	2	3	3	0	5	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:34499237G>A	ENST00000454519.3	-	7	623	c.474C>T	c.(472-474)ttC>ttT	p.F158F	TBC1D3B_ENST00000398801.3_Silent_p.F158F|CTB-91J4.1_ENST00000592460.1_RNA	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	158	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GATCCCTGAAGAACATATGCT	0.567													55	734					0	0	0	0	A	34499237	G	A	34499237	2	1	58	1	0	0	0	0	0	0	0	1	15712	933	33	2		2	TBC1D3B	17	34499237	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	547644	34499237	46695973	829	11421											
GGNBP2	79893	broad.mit.edu	37	chr17	34942500	34942500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatgactcttgtgttcatCactgtgaagacaaagaggat	12	12	11	6	0	3	5	2	3	1	2	3	6	3	6	0	1	0	1	0	1	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:34942500C>T	ENST00000304718.4	+	12	1829	c.1513C>T	c.(1513-1515)Cac>Tac	p.H505Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	505					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTGTGTTCATCACTGTGAAGA	0.353													8	218					0	0	0	0	T	34942500	C	T	34942500	3	4	58	1	0	0	0	0	1	0	0	0	6410	826	29	2	1555	2	GGNBP2	17	34942500	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	443263	34942500	46252710	830	11422											
ACACA	31	broad.mit.edu	37	chr17	35600327	35600327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggactgatgtgatgttgCtagcatactgagccatttcc	10	12	11	8	0	0	4	0	3	0	1	1	5	1	5	2	1	4	3	2	1	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:35600327C>T	ENST00000353139.5	-	22	3372	c.2891G>A	c.(2890-2892)aGc>aAc	p.S964N	ACACA_ENST00000360679.3_Missense_Mutation_p.S869N|ACACA_ENST00000335166.5_Missense_Mutation_p.S849N|ACACA_ENST00000394406.2_Missense_Mutation_p.S927N	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	927					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGTGATGTTGCTAGCATACTG	0.438													88	188					0	0	0	0	T	35600327	C	T	35600327	3	4	58	1	0	0	0	0	1	0	0	0	106	797	28	4	4400	4	ACACA	17	35600327	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	657827	35600327	45594883	831	11423											
HNF1B	6928	broad.mit.edu	37	chr17	36104543	36104543	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcgcctacctgagcatccgGtccacctccgcccgctgctc	4	8	9	20	4	0	1	0	1	0	0	4	1	3	1	7	1	4	3	7	1	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:36104543G>A	ENST00000225893.4	-	1	694	c.333C>T	c.(331-333)gaC>gaT	p.D111D	HNF1B_ENST00000560016.1_Silent_p.D111D|HNF1B_ENST00000561193.1_Silent_p.D111D|HNF1B_ENST00000427275.2_Silent_p.D111D	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	111					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGAGCATCCGGTCCACCTCCG	0.706													28	81					0	0	0	0	A	36104543	G	A	36104543	2	1	58	1	0	0	0	0	0	0	0	1	7302	1252	44	4		4	HNF1B	17	36104543	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	504216	36104543	45090667	832	11424											
KRT10	3858	broad.mit.edu	37	chr17	38975820	38975820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgaatttcattctccagtCggatcttaatatccaggagt	10	16	7	8	1	3	1	1	1	2	0	6	3	4	3	2	2	0	0	2	2	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:38975820C>T	ENST00000269576.5	-	6	1331	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	441	Coil 2.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ATTCTCCAGTCGGATCTTAAT	0.418													61	184					0	0	0	0	T	38975820	C	T	38975820	3	4	58	1	0	0	0	0	1	0	0	0	8500	884	31	1	444	1	KRT10	17	38975820	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2871277	38975820	42219390	833	11425											
KRT33A	3883	broad.mit.edu	37	chr17	39503388	39503388	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactgactcctggtctcattCaggacctggttcaggtccac	7	12	9	13	0	3	1	3	1	1	0	6	2	5	2	3	4	1	1	3	4	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:39503388C>G	ENST00000007735.3	-	4	719	c.675G>C	c.(673-675)ctG>ctC	p.L225L		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	225	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGGTCTCATTCAGGACCTGGT	0.597													32	75					0	0	0	0	G	39503388	C	G	39503388	2	3	58	1	0	0	0	0	0	0	0	1	8521	813	29	2		2	KRT33A	17	39503388	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	527568	39503388	41691822	834	11426											
HAP1	9001	broad.mit.edu	37	chr17	39881320	39881320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgtgaaatcttcccccCgcatgatatccgctgccagc	8	8	9	16	3	1	2	0	2	1	0	3	2	3	2	5	1	2	2	5	1	2	2	rs149550090	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:39881320C>T	ENST00000393939.2	-	10	1427	c.1418G>A	c.(1417-1419)cGg>cAg	p.R473Q	HAP1_ENST00000310778.5_Missense_Mutation_p.R550Q|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.R481Q|HAP1_ENST00000347901.4_Missense_Mutation_p.R498Q			P54257	HAP1_HUMAN	huntingtin-associated protein 1	526	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATCTTCCCCCCGCATGATATC	0.607													147	409					0	0	0	0	T	39881320	C	T	39881320	3	4	58	1	0	0	0	0	1	0	0	0	7003	652	23	1	370	1	HAP1	17	39881320	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	377932	39881320	41313890	835	11427											
ACLY	47	broad.mit.edu	37	chr17	40040448	40040448	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttttaaagtaactcacctCtccaagaaccacaatcattt	14	14	2	11	0	3	1	2	0	1	1	4	1	3	1	3	0	2	1	3	0	6	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:40040448C>G	ENST00000352035.2	-	19	2282	c.2152G>C	c.(2152-2154)Gag>Cag	p.E718Q	ACLY_ENST00000590151.1_Missense_Mutation_p.E718Q|ACLY_ENST00000537919.1_Missense_Mutation_p.E447Q|ACLY_ENST00000393896.2_Missense_Mutation_p.E708Q|ACLY_ENST00000353196.1_Missense_Mutation_p.E708Q	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	718					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TAACTCACCTCTCCAAGAACC	0.358													25	62					0	0	0	0	G	40040448	C	G	40040448	3	3	58	1	0	0	0	0	1	0	0	0	143	922	32	2	1197	2	ACLY	17	40040448	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	159128	40040448	41154762	836	11428											
WNK4	65266	broad.mit.edu	37	chr17	40947774	40947774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacccctcagctcacttcaGagagctcagatacagaggac	13	6	8	14	0	4	3	4	0	0	3	4	5	4	4	2	1	4	2	2	1	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:40947774G>A	ENST00000246914.5	+	16	3175	c.3154G>A	c.(3154-3156)Gag>Aag	p.E1052K		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1052					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTCACTTCAGAGAGCTCAGA	0.587													31	66					0	0	0	0	A	40947774	G	A	40947774	3	1	58	1	0	0	0	0	1	0	0	0	17476	943	33	2	3216	2	WNK4	17	40947774	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	907326	40947774	40247436	837	11429											
WNK4	65266	broad.mit.edu	37	chr17	40948596	40948596	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccggggatgttggcaggatGgtgagggcgggcccaaggga	7	5	22	7	2	0	1	0	1	0	0	0	4	0	4	2	8	0	2	2	8	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:40948596G>A	ENST00000246914.5	+	18	3750	c.3729_splice	c.e18+1	p.1243_splice		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	0					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTGGCAGGATGGTGAGGGCGG	0.607													19	74					0	0	0	0	A	40948596	G	A	40948596	5	1	58	1	0	0	0	0	0	0	1	0	17476	1362	47	4	3799	4	WNK4	17	40948596	Splice_Site	SNP	G	TCGA-CN-4723-01A-01D-1434-08	822	40948596	40246614	838	11430											
CD300LG	146894	broad.mit.edu	37	chr17	41926060	41926060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgggatcctcttctctCgctgctctggcaccatctat	5	13	10	13	1	4	0	0	0	4	0	7	1	5	1	2	3	1	3	2	3	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:41926060C>A	ENST00000317310.4	+	2	219	c.178C>A	c.(178-180)Cgc>Agc	p.R60S	CD300LG_ENST00000377203.4_Missense_Mutation_p.R60S|CD300LG_ENST00000293396.8_Missense_Mutation_p.R60S|CD300LG_ENST00000586233.1_Missense_Mutation_p.R60S|CD300LG_ENST00000588884.1_Missense_Mutation_p.R60S|CD300LG_ENST00000539718.1_Missense_Mutation_p.R60S	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	60	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTCTTCTCTCGCTGCTCTGG	0.592													4	126					0.150653	0.152136	1	0	A	41926060	C	A	41926060	3	1	58	1	0	0	0	0	1	0	0	0	3031	884	31	3	184	3	CD300LG	17	41926060	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	977464	41926060	39269150	839	11431											
CDC27	996	broad.mit.edu	37	chr17	45214545	45214545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tataatgtctaggattgactCtgatagcatttcgaaaacaa	15	13	7	6	1	2	2	0	2	2	0	3	4	2	3	0	1	2	1	0	1	7	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45214545C>T	ENST00000066544.3	-	14	1979	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K	CDC27_ENST00000446365.2_Missense_Mutation_p.R568K|CDC27_ENST00000527547.1_Missense_Mutation_p.R628K|CDC27_ENST00000531206.1_Missense_Mutation_p.R635K	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	629					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGGATTGACTCTGATAGCATT	0.348													11	50					0	0	0	0	T	45214545	C	T	45214545	3	4	58	1	0	0	0	0	1	0	0	0	3095	913	32	2	612	2	CDC27	17	45214545	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3288485	45214545	35980665	840	11432											
CDC27	996	broad.mit.edu	37	chr17	45216151	45216151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaagtcttttgacagaactGaaagagcaacatctttttga	14	14	7	6	0	2	5	0	3	2	2	2	5	2	5	0	0	3	1	0	0	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45216151G>A	ENST00000066544.3	-	13	1751	c.1658C>T	c.(1657-1659)tCa>tTa	p.S553L	CDC27_ENST00000446365.2_Missense_Mutation_p.S492L|CDC27_ENST00000527547.1_Missense_Mutation_p.S552L|CDC27_ENST00000531206.1_Missense_Mutation_p.S559L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	553					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGACAGAACTGAAAGAGCAAC	0.353													30	118					0	0	0	0	A	45216151	G	A	45216151	3	1	58	1	0	0	0	0	1	0	0	0	3095	1294	45	2	844	2	CDC27	17	45216151	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1606	45216151	35979059	841	11433											
KPNB1	3837	broad.mit.edu	37	chr17	45757436	45757436	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttattctgtctttcattGaccacattgctggagatgag	10	16	8	7	0	3	3	1	2	2	1	3	4	3	3	1	1	1	1	1	1	2	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45757436G>C	ENST00000290158.4	+	20	2811	c.2404G>C	c.(2404-2406)Gac>Cac	p.D802H	KPNB1_ENST00000540627.1_Missense_Mutation_p.D657H|KPNB1_ENST00000537679.1_Missense_Mutation_p.D586H|KPNB1_ENST00000535458.2_Missense_Mutation_p.D657H	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	802					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GTCTTTCATTGACCACATTGC	0.453													68	183					0	0	0	0	C	45757436	G	C	45757436	3	2	58	1	0	0	0	0	1	0	0	0	8487	1290	45	2	2482	2	KPNB1	17	45757436	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	541285	45757436	35437774	842	11434											
TBKBP1	9755	broad.mit.edu	37	chr17	45787869	45787869	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctctctcgacagttgctGatggagacggtgggctccga	6	11	13	11	3	2	2	0	1	2	1	5	5	3	2	1	3	1	3	1	3	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45787869G>C	ENST00000361722.3	+	9	2574	c.1725G>C	c.(1723-1725)ctG>ctC	p.L575L		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	575					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GACAGTTGCTGATGGAGACGG	0.632													17	52					0	0	0	0	C	45787869	G	C	45787869	2	2	58	1	0	0	0	0	0	0	0	1	15732	1277	45	2		2	TBKBP1	17	45787869	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	30433	45787869	35407341	843	11435											
DLX4	1748	broad.mit.edu	37	chr17	48050615	48050615	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccagctggcagcgcagctCggcctcacccagacccaggt	7	4	12	18	2	1	1	1	0	0	1	2	1	1	1	4	3	3	4	4	3	0	0	rs150742579	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48050615C>T	ENST00000240306.3	+	2	757	c.462C>T	c.(460-462)ctC>ctT	p.L154L	DLX4_ENST00000411890.2_Silent_p.L82L	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	154					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CAGCGCAGCTCGGCCTCACCC	0.642													16	33					0	0	0	0	T	48050615	C	T	48050615	2	4	58	1	0	0	0	0	0	0	0	1	4610	871	31	1		1	DLX4	17	48050615	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2262746	48050615	33144595	844	11436											
COL1A1	1277	broad.mit.edu	37	chr17	48267430	48267430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgcctttagcaccagcatCaccaggttcgcctttagcac	9	10	7	15	2	1	0	1	0	0	0	3	0	1	0	4	1	3	4	4	1	2	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48267430C>T	ENST00000225964.5	-	36	2609	c.2491G>A	c.(2491-2493)Gat>Aat	p.D831N		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	831	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCACCAGCATCACCAGGTTCG	0.662			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						33	100					0	0	0	0	T	48267430	C	T	48267430	3	4	58	1	0	0	0	0	1	0	0	0	3707	826	29	2	1967	2	COL1A1	17	48267430	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	216815	48267430	32927780	845	11437											
ACSF2	80221	broad.mit.edu	37	chr17	48551078	48551082	+	Frame_Shift_Del	DEL	AAGGA	AAGGA	-																															gcaagatcgtgggccgctctAaggatatgatcatccggggt																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48551078_48551082delAAGGA	ENST00000427954.2	+	14	1646_1650	c.1603_1607delAAGGA	c.(1603-1608)tfs	p.KD535fs	ACSF2_ENST00000504392.1_Frame_Shift_Del_p.KD467fs|ACSF2_ENST00000541920.1_Frame_Shift_Del_p.KD350fs|ACSF2_ENST00000300441.4_Frame_Shift_Del_p.KD510fs|ACSF2_ENST00000502667.1_Frame_Shift_Del_p.KD497fs|ACSF2_ENST00000506085.1_3'UTR			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	510					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGGCCGCTCTAAGGATATGATCATC	0.551													36	153	---	---	---	---					-	48551082	AAGGA	-	48551078	7	5	58	1	0	1	0	1	0	0	0	0	175	363	13	0	1578	0	ACSF2	17	48551078	Frame_Shift_Del	DEL	AAGGA	TCGA-CN-4723-01A-01D-1434-08	283648	48551078	32644132	846	11438											
CACNA1G	8913	broad.mit.edu	37	chr17	48649387	48649387	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccgatgcttcctacctgaGaatttcagcctgtgagtggt	9	12	10	10	1	1	2	1	2	0	1	2	4	2	2	4	1	4	1	4	1	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48649387G>A	ENST00000352832.5	+	5	1107	c.735G>A	c.(733-735)gaG>gaA	p.E245E	CACNA1G_ENST00000510366.1_Silent_p.E245E|CACNA1G_ENST00000510115.1_Silent_p.E245E|CACNA1G_ENST00000514181.1_Silent_p.E245E|CACNA1G_ENST00000507510.2_Silent_p.E245E|CACNA1G_ENST00000507609.1_Silent_p.E245E|CACNA1G_ENST00000507336.1_Silent_p.E245E|CACNA1G_ENST00000514079.1_Silent_p.E245E|CACNA1G_ENST00000503485.1_Silent_p.E245E|CACNA1G_ENST00000505165.1_Silent_p.E245E|CACNA1G_ENST00000513964.1_Silent_p.E245E|CACNA1G_ENST00000354983.4_Silent_p.E245E|CACNA1G_ENST00000515165.1_Silent_p.E245E|CACNA1G_ENST00000359106.5_Silent_p.E245E|CACNA1G_ENST00000512389.1_Silent_p.E245E|CACNA1G_ENST00000515765.1_Silent_p.E245E|CACNA1G_ENST00000513689.2_Silent_p.E245E|CACNA1G_ENST00000360761.4_Silent_p.E245E|CACNA1G_ENST00000515411.1_Silent_p.E245E|CACNA1G_ENST00000416767.4_Silent_p.E245E|CACNA1G_ENST00000358244.5_Silent_p.E245E|CACNA1G_ENST00000442258.2_Silent_p.E245E|CACNA1G_ENST00000507896.1_Silent_p.E245E|CACNA1G_ENST00000502264.1_Silent_p.E245E|CACNA1G_ENST00000429973.2_Silent_p.E245E|CACNA1G_ENST00000514717.1_Silent_p.E245E	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	245					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCTACCTGAGAATTTCAGCC	0.597													13	44					0	0	0	0	A	48649387	G	A	48649387	2	1	58	1	0	0	0	0	0	0	0	1	2569	933	33	2		2	CACNA1G	17	48649387	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	98309	48649387	32545823	847	11439											
KIF2B	84643	broad.mit.edu	37	chr17	51901140	51901140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtggttatggtgcatgagtCcaagcaaaaggtggacctca	11	10	13	7	0	1	1	1	1	0	0	2	2	2	2	2	4	2	3	2	4	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:51901140C>T	ENST00000268919.4	+	1	902	c.746C>T	c.(745-747)tCc>tTc	p.S249F		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	249	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGCATGAGTCCAAGCAAAAG	0.537													22	40					0	0	0	0	T	51901140	C	T	51901140	3	4	58	1	0	0	0	0	1	0	0	0	8349	855	30	2	748	2	KIF2B	17	51901140	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3251753	51901140	29294070	848	11440											
HSF5	124535	broad.mit.edu	37	chr17	56540556	56540556	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcaactcatcaactatctGaaagacagcctctaggttta	14	11	6	10	0	4	2	2	1	2	1	4	2	4	2	1	1	4	2	1	1	6	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:56540556G>A	ENST00000323777.3	-	4	1238	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	377						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAACTATCTGAAAGACAGCC	0.443													51	139					0	0	0	0	A	56540556	G	A	56540556	4	1	58	1	0	0	0	0	0	1	0	0	7449	1299	45	2	673	2	HSF5	17	56540556	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4639416	56540556	24654654	849	11441											
MTMR4	9110	broad.mit.edu	37	chr17	56572322	56572322	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatagtccatggggggctCtgctggaggggcacagcagt	7	8	16	10	0	2	0	1	0	1	0	3	1	3	1	1	6	2	4	1	6	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:56572322C>G	ENST00000323456.5	-	16	3305	c.3181G>C	c.(3181-3183)Gag>Cag	p.E1061Q	MTMR4_ENST00000579925.1_Missense_Mutation_p.E1004Q	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1061						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGGGGGGCTCTGCTGGAGGG	0.512													18	69					0	0	0	0	G	56572322	C	G	56572322	3	3	58	1	0	0	0	0	1	0	0	0	10016	922	32	2	422	2	MTMR4	17	56572322	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	31766	56572322	24622888	850	11442											
PPM1E	22843	broad.mit.edu	37	chr17	57058095	57058095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggttggaaaatgaacagttCaaatccccgggaaacagagt	15	7	12	7	1	1	2	1	1	0	1	2	4	2	4	2	3	2	2	2	3	5	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:57058095C>G	ENST00000308249.2	+	7	2100	c.1971C>G	c.(1969-1971)ttC>ttG	p.F657L		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	666					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ATGAACAGTTCAAATCCCCGG	0.423													92	283					0	0	0	0	G	57058095	C	G	57058095	3	3	58	1	0	0	0	0	1	0	0	0	12414	825	29	2	1997	2	PPM1E	17	57058095	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	485773	57058095	24137115	851	11443											
GDPD1	284161	broad.mit.edu	37	chr17	57322854	57322854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagttgtagtgtcacatgatGagaatctaaagagagcaact	16	10	10	5	0	2	3	1	2	1	2	2	5	2	3	0	0	2	3	0	0	6	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:57322854G>C	ENST00000284116.4	+	3	402	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	GDPD1_ENST00000581140.1_Missense_Mutation_p.E89Q|GDPD1_ENST00000581276.1_Missense_Mutation_p.E89Q	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	89	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GTCACATGATGAGAATCTAAA	0.348													4	127					0	0	0	0	C	57322854	G	C	57322854	3	2	58	1	0	0	0	0	1	0	0	0	6374	1291	45	2	275	2	GDPD1	17	57322854	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	264759	57322854	23872356	852	11444											
MED13	9969	broad.mit.edu	37	chr17	60088194	60088194	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatctggtgttggcatttGataaaaatgttgactctgag	10	14	13	4	0	2	3	0	3	2	0	2	4	2	4	0	3	0	3	0	3	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:60088194G>A	ENST00000397786.2	-	9	1760	c.1684C>T	c.(1684-1686)Caa>Taa	p.Q562*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	562					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTTGGCATTTGATAAAAATGT	0.438													46	112					0	0	0	0	A	60088194	G	A	60088194	4	1	58	1	0	0	0	0	0	1	0	0	9499	1299	45	2	4928	2	MED13	17	60088194	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2765340	60088194	21107016	853	11445											
GH1	2688	broad.mit.edu	37	chr17	61994806	61994806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgttgtgtgagtttgtgtCgaacttgctgtaggtctgct	5	17	13	6	2	1	1	0	1	1	0	3	2	1	1	0	1	3	5	0	1	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:61994806C>T	ENST00000323322.5	-	5	559	c.517G>A	c.(517-519)Gac>Aac	p.D173N	GH1_ENST00000342364.4_Missense_Mutation_p.D78N|GH1_ENST00000351388.4_Missense_Mutation_p.D133N|GH1_ENST00000458650.2_Missense_Mutation_p.D158N|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	173					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GAGTTTGTGTCGAACTTGCTG	0.542													49	128					0	0	0	0	T	61994806	C	T	61994806	3	4	58	1	0	0	0	0	1	0	0	0	6418	884	31	1	140	1	GH1	17	61994806	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1906612	61994806	19200404	854	11446											
HELZ	9931	broad.mit.edu	37	chr17	65156472	65156472	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctattagaatgggtgcaaatGagaatcctgctgaaataaat	16	11	9	5	0	0	3	0	2	0	2	1	4	1	3	1	1	2	2	1	1	8	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:65156472G>A	ENST00000358691.5	-	17	2248	c.2082C>T	c.(2080-2082)ctC>ctT	p.L694L	HELZ_ENST00000580168.1_Silent_p.L695L	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGGTGCAAATGAGAATCCTGC	0.358													30	87					0	0	0	0	A	65156472	G	A	65156472	2	1	58	1	0	0	0	0	0	0	0	1	7099	1277	45	2		2	HELZ	17	65156472	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3161666	65156472	16038738	855	11447											
CD300LB	124599	broad.mit.edu	37	chr17	72522048	72522048	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acacacggtcactcttctctCcttgctccgaccctctggtt	5	13	6	17	2	4	0	1	0	3	0	7	1	6	0	3	2	1	2	3	2	0	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:72522048C>G	ENST00000392621.1	-	2	324	c.320G>C	c.(319-321)gGa>gCa	p.G107A	CD300LB_ENST00000314401.3_Missense_Mutation_p.G107A	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	70	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						ACTCTTCTCTCCTTGCTCCGA	0.532													82	238					0	0	0	0	G	72522048	C	G	72522048	3	3	58	1	0	0	0	0	1	0	0	0	3028	855	30	2	408	2	CD300LB	17	72522048	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	7365576	72522048	8673162	856	11448											
FDXR	2232	broad.mit.edu	37	chr17	72858968	72858968	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaggcgcagcatctcctGaggatccaccagcttctccc	8	7	10	16	1	2	1	0	1	2	0	5	3	3	3	4	3	2	3	4	3	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:72858968G>C	ENST00000442102.2	-	12	1662	c.1576C>G	c.(1576-1578)Cag>Gag	p.Q526E	FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000413947.2_Missense_Mutation_p.Q514E|FDXR_ENST00000581530.1_Missense_Mutation_p.Q489E|FDXR_ENST00000544854.1_Missense_Mutation_p.Q431E|FDXR_ENST00000583917.1_Missense_Mutation_p.Q455E|FDXR_ENST00000420580.2_Missense_Mutation_p.Q443E|FDXR_ENST00000582944.1_Missense_Mutation_p.Q475E|FDXR_ENST00000293195.5_Missense_Mutation_p.Q483E	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN	ferredoxin reductase	483					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCATCTCCTGAGGATCCACC	0.687													34	84					0	0	0	0	C	72858968	G	C	72858968	3	2	58	1	0	0	0	0	1	0	0	0	5852	1299	45	2	32	2	FDXR	17	72858968	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	336920	72858968	8336242	857	11449											
CASKIN2	57513	broad.mit.edu	37	chr17	73498777	73498777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgggaccggcgcttaggtCgaggcgggtctgggggagtg	4	8	22	7	4	1	0	0	0	1	0	2	3	1	2	1	7	0	1	1	7	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:73498777C>T	ENST00000321617.3	-	18	2964	c.2378G>A	c.(2377-2379)cGa>cAa	p.R793Q	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R711Q	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	793	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGCTTAGGTCGAGGCGGGTC	0.716													5	17					0	0	0	0	T	73498777	C	T	73498777	3	4	58	1	0	0	0	0	1	0	0	0	2692	884	31	1	1242	1	CASKIN2	17	73498777	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	639809	73498777	7696433	858	11450											
TMC6	11322	broad.mit.edu	37	chr17	76121048	76121048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcccctccacttccccctCggggtcctgctcttctctct	1	13	7	20	1	3	0	0	0	3	0	8	0	6	0	6	3	1	1	6	3	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:76121048C>T	ENST00000590602.1	-	7	714	c.555G>A	c.(553-555)ccG>ccA	p.P185P	TMC6_ENST00000589553.1_Intron|TMC6_ENST00000306591.7_Silent_p.P185P|TMC6_ENST00000322914.3_Silent_p.P185P|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000392467.3_Silent_p.P185P			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	185						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACTTCCCCCTCGGGGTCCTGC	0.682													6	6					0	0	0	0	T	76121048	C	T	76121048	2	4	58	1	0	0	0	0	0	0	0	1	16083	871	31	1		1	TMC6	17	76121048	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2622271	76121048	5074162	859	11451											
RNF213	57674	broad.mit.edu	37	chr17	78345702	78345702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtaaaagattatattcagGaatatttgaccctgttaaaa	17	14	6	4	0	1	2	1	1	0	1	1	3	1	3	1	1	0	2	1	1	8	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:78345702G>A	ENST00000582970.1	+	47	12597	c.12454G>A	c.(12454-12456)Gaa>Aaa	p.E4152K	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.E4201K|RNF213_ENST00000336301.6_Missense_Mutation_p.E2225K	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTATATTCAGGAATATTTGAC	0.348													15	51					0	0	0	0	A	78345702	G	A	78345702	3	1	58	1	0	0	0	0	1	0	0	0	13562	1175	41	2	12955	2	RNF213	17	78345702	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2224654	78345702	2849508	860	11452											
NARF	26502	broad.mit.edu	37	chr17	80442792	80442792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cggccaaggagctgttcaacGaggatgtggaggaggtcact	10	7	16	8	2	2	0	2	0	0	0	2	5	2	4	1	6	2	2	1	6	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:80442792G>C	ENST00000390006.4	+	9	1234	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	NARF_ENST00000309794.10_Missense_Mutation_p.E313Q|NARF_ENST00000457415.3_Missense_Mutation_p.E359Q|NARF_ENST00000345415.7_Missense_Mutation_p.E265Q	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	313						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTGTTCAACGAGGATGTGGA	0.572													5	63					0	0	0	0	C	80442792	G	C	80442792	3	2	58	1	0	0	0	0	1	0	0	0	10237	1059	37	3	1113	3	NARF	17	80442792	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2097090	80442792	752418	861	11453											
TBCD	6904	broad.mit.edu	37	chr17	80885853	80885853	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cggagccagcctgagctgatCgaggcccatacgtgagtgtc	8	7	14	12	3	0	3	0	3	0	0	2	5	0	4	3	2	4	1	3	2	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:80885853C>G	ENST00000355528.4	+	30	2812	c.2682C>G	c.(2680-2682)atC>atG	p.I894M	TBCD_ENST00000539345.2_Missense_Mutation_p.I894M	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	894					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTGAGCTGATCGAGGCCCATA	0.642													19	50					0	0	0	0	G	80885853	C	G	80885853	3	3	58	1	0	0	0	0	1	0	0	0	15727	874	31	3	2800	3	TBCD	17	80885853	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	443061	80885853	309357	862	11454											
ADCYAP1	116	broad.mit.edu	37	chr18	909481	909481	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcggcgcgggggacgacgcgGagccgctctccaagcgccac	6	2	17	16	8	1	0	0	0	1	0	2	3	1	2	3	4	2	1	3	4	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:909481G>C	ENST00000579794.1	+	4	654	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	ADCYAP1_ENST00000450565.3_Missense_Mutation_p.E126Q	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	126					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	p.E126K(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GGACGACGCGGAGCCGCTCTC	0.667													21	54					0	0	0	0	C	909481	G	C	909481	3	2	58	1	0	0	0	0	1	0	0	0	302	1175	41	2	390	2	ADCYAP1	18	909481	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08		909481	77167767	863	11455											
EPB41L3	23136	broad.mit.edu	37	chr18	5410589	5410589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagtggtctccccgtcGgctgcggtgtccgtgcgctc	1	10	16	14	5	1	0	0	0	1	0	5	0	2	0	3	4	2	3	3	4	0	0	rs140128908		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:5410589G>A	ENST00000341928.2	-	14	2437	c.2097C>T	c.(2095-2097)gcC>gcT	p.A699A	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.A530A|EPB41L3_ENST00000540638.2_Silent_p.A530A|EPB41L3_ENST00000400111.3_Silent_p.A530A|EPB41L3_ENST00000342933.3_Silent_p.A699A|EPB41L3_ENST00000542146.1_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	699	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCTCCCCGTCGGCTGCGGTGT	0.532													21	41					0	0	0	0	A	5410589	G	A	5410589	2	1	58	1	0	0	0	0	0	0	0	1	5192	1103	39	1		1	EPB41L3	18	5410589	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4501108	5410589	72666659	864	11456											
PPP4R1	9989	broad.mit.edu	37	chr18	9570206	9570206	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagattttctatcatttcttCcagttcctttctggtggcca	6	19	6	10	0	4	1	1	0	3	1	6	1	6	1	3	2	0	1	3	2	2	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:9570206C>A	ENST00000400556.3	-	11	1595	c.1522G>T	c.(1522-1524)Gaa>Taa	p.E508*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.E491*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	508					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						ATCATTTCTTCCAGTTCCTTT	0.428													53	174					1.54043e-34	1.66925e-34	1	0	A	9570206	C	A	9570206	4	1	58	1	0	0	0	0	0	1	0	0	12479	864	30	2	1370	2	PPP4R1	18	9570206	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4159617	9570206	68507042	865	11457											
POTEC	388468	broad.mit.edu	37	chr18	14542978	14542978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcccatcttgctcctgagCatcttcataaaggagtcgtc	8	13	8	12	1	3	1	1	1	2	0	6	2	4	2	2	1	3	2	2	1	2	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:14542978C>T	ENST00000358970.5	-	1	167	c.168G>A	c.(166-168)atG>atA	p.M56I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	56										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCCTGAGCATCTTCATAA	0.587													59	621					0	0	0	0	T	14542978	C	T	14542978	3	4	58	1	0	0	0	0	1	0	0	0	12334	710	25	4	1504	4	POTEC	18	14542978	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4972772	14542978	63534270	866	11458											
ROCK1	6093	broad.mit.edu	37	chr18	18629114	18629114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttcccagaaaaaagcaGaatcagatctctttatcatt	14	14	4	9	0	4	3	2	0	2	3	6	3	5	3	1	0	1	1	1	0	5	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:18629114G>A	ENST00000399799.1	-	4	1293	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	118	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GAAAAAAGCAGAATCAGATCT	0.368													29	186					0	0	0	0	A	18629114	G	A	18629114	3	1	58	1	0	0	0	0	1	0	0	0	13602	942	33	2	3831	2	ROCK1	18	18629114	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4086136	18629114	59448134	867	11459											
ESCO1	114799	broad.mit.edu	37	chr18	19153502	19153502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtccctaaaaacgtactttGagtcactggatgatgcattt	11	14	8	8	1	1	2	1	2	0	0	2	3	2	3	1	1	3	2	1	1	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:19153502G>C	ENST00000269214.5	-	4	2240	c.1303C>G	c.(1303-1305)Caa>Gaa	p.Q435E		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	435					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AACGTACTTTGAGTCACTGGA	0.348													39	159					0	0	0	0	C	19153502	G	C	19153502	3	2	58	1	0	0	0	0	1	0	0	0	5286	1299	45	2	1255	2	ESCO1	18	19153502	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	524388	19153502	58923746	868	11460											
RBBP8	5932	broad.mit.edu	37	chr18	20596847	20596847	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttcggaaaaaagaggagaGaagaaaactgcttgggcaca	17	5	14	5	1	0	3	0	0	0	3	1	6	0	5	0	4	2	3	0	4	6	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:20596847G>C	ENST00000399722.2	+	17	2765	c.2414G>C	c.(2413-2415)aGa>aCa	p.R805T	RBBP8_ENST00000399725.2_Intron|RBBP8_ENST00000327155.5_Missense_Mutation_p.R805T|RBBP8_ENST00000581687.1_5'UTR|RBBP8_ENST00000360790.5_Missense_Mutation_p.R810T	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	805					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAAGAGGAGAGAAGAAAACTG	0.338								Homologous recombination					19	102					0	0	0	0	C	20596847	G	C	20596847	3	2	58	1	0	0	0	0	1	0	0	0	13187	942	33	2	2476	2	RBBP8	18	20596847	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1443345	20596847	57480401	869	11461											
HRH4	59340	broad.mit.edu	37	chr18	22048902	22048902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctatgatcgatacctgtCagtctcaaatgctgtaagtc	11	12	8	10	1	2	1	2	1	1	0	5	2	2	1	1	0	3	3	1	0	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:22048902C>T	ENST00000256906.4	+	2	444	c.344C>T	c.(343-345)tCa>tTa	p.S115L	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	115						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	CGATACCTGTCAGTCTCAAAT	0.348													21	116					0	0	0	0	T	22048902	C	T	22048902	3	4	58	1	0	0	0	0	1	0	0	0	7408	838	29	2	350	2	HRH4	18	22048902	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1452055	22048902	56028346	870	11462											
B4GALT6	9331	broad.mit.edu	37	chr18	29211016	29211016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcaggtagatgatccacatCgtggaagattacacagtccc	12	10	9	10	1	1	3	1	1	0	2	4	4	3	4	2	2	1	1	2	2	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:29211016C>T	ENST00000306851.5	-	6	978	c.682G>A	c.(682-684)Gat>Aat	p.D228N	B4GALT6_ENST00000383131.3_Missense_Mutation_p.D189N|B4GALT6_ENST00000237019.7_Missense_Mutation_p.D189N	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	228					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TGATCCACATCGTGGAAGATT	0.433													37	81					0	0	0	0	T	29211016	C	T	29211016	3	4	58	1	0	0	0	0	1	0	0	0	1279	884	31	1	482	1	B4GALT6	18	29211016	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	7162114	29211016	48866232	871	11463											
HDHD2	84064	broad.mit.edu	37	chr18	44660911	44660911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcaactagcagcatgggtCtgacttgtttccgctctagt	8	13	9	11	1	3	1	1	1	2	0	4	1	4	1	1	1	3	4	1	1	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:44660911C>T	ENST00000300605.6	-	3	418	c.266G>A	c.(265-267)aGa>aAa	p.R89K	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	89							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						CAGCATGGGTCTGACTTGTTT	0.363													44	76					0	0	0	0	T	44660911	C	T	44660911	3	4	58	1	0	0	0	0	1	0	0	0	7073	913	32	2	533	2	HDHD2	18	44660911	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	15449895	44660911	33416337	872	11464											
DYM	54808	broad.mit.edu	37	chr18	46905007	46905007	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctctgacatctgacagatGaacactttcagcaaacagca	14	9	6	12	0	3	4	1	3	2	1	4	4	4	4	1	0	4	2	1	0	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:46905007G>A	ENST00000269445.6	-	5	808	c.351C>T	c.(349-351)ttC>ttT	p.F117F	DYM_ENST00000578396.1_5'UTR|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	117						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TCTGACAGATGAACACTTTCA	0.323													20	40					0	0	0	0	A	46905007	G	A	46905007	2	1	58	1	0	0	0	0	0	0	0	1	4876	1281	45	2		2	DYM	18	46905007	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2244096	46905007	31172241	873	11465											
CXXC1	30827	broad.mit.edu	37	chr18	47810269	47810269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctgcttgctcacctcctCatcctcgcgcacagcctgct	4	10	6	21	2	2	0	2	0	0	0	5	0	4	0	6	0	4	4	6	0	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:47810269C>T	ENST00000285106.6	-	10	2122	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	CXXC1_ENST00000412036.2_Missense_Mutation_p.E474K|CXXC1_ENST00000589940.1_Missense_Mutation_p.E470K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	470					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CTCACCTCCTCATCCTCGCGC	0.582													86	159					0	0	0	0	T	47810269	C	T	47810269	3	4	58	1	0	0	0	0	1	0	0	0	4129	835	29	2	586	2	CXXC1	18	47810269	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	905262	47810269	30266979	874	11466											
SMAD4	4089	broad.mit.edu	37	chr18	48575103	48575103	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgatctatgcccgtctctgGaggtggcctgatcttcacaa	7	12	11	11	1	4	2	1	2	3	0	5	3	4	3	2	3	1	0	2	3	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:48575103G>C	ENST00000342988.3	+	3	835	c.297G>C	c.(295-297)tgG>tgC	p.W99C	SMAD4_ENST00000398417.2_Missense_Mutation_p.W99C|SMAD4_ENST00000452201.2_Missense_Mutation_p.W99C|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.W99C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	99	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCCGTCTCTGGAGGTGGCCTG	0.378													37	59					0	0	0	0	C	48575103	G	C	48575103	3	2	58	1	0	0	0	0	1	0	0	0	14848	1183	41	2	303	2	SMAD4	18	48575103	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	764834	48575103	29502145	875	11467											
CPLX4	339302	broad.mit.edu	37	chr18	56964048	56964048	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtatctgcccaagaataGaatctttatcttcttcctct	9	17	4	11	0	6	2	0	0	6	2	7	2	7	2	2	0	1	1	2	0	6	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:56964048G>C	ENST00000299721.3	-	3	551	c.365C>G	c.(364-366)tCt>tGt	p.S122C	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	122					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CCCAAGAATAGAATCTTTATC	0.428													19	57					0	0	0	0	C	56964048	G	C	56964048	3	2	58	1	0	0	0	0	1	0	0	0	3837	942	33	2	121	2	CPLX4	18	56964048	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	8388945	56964048	21113200	876	11468											
ZNF407	55628	broad.mit.edu	37	chr18	72343890	72343890	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatgttcactcaaaaccAagaacttctaaatcaatagc	20	9	3	9	0	4	1	3	0	1	1	4	1	4	1	1	0	3	1	1	0	10	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:72343890A>G	ENST00000299687.5	+	1	915	c.915A>G	c.(913-915)ccA>ccG	p.P305P	ZNF407_ENST00000582337.1_Silent_p.P305P|ZNF407_ENST00000577538.1_Silent_p.P305P|ZNF407_ENST00000309902.6_Silent_p.P305P	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACTCAAAACCAAGAACTTCTA	0.343													46	67					0	0	0	0	G	72343890	A	G	72343890	2	3	58	1	0	0	0	0	0	0	0	1	17982	117	5	5		5	ZNF407	18	72343890	Silent	SNP	A	TCGA-CN-4723-01A-01D-1434-08	15379842	72343890	5733358	877	11469											
HMHA1	23526	broad.mit.edu	37	chr19	1080711	1080711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagttcgagcggacgtcatCcagtggtaccatgtcgtcca	9	9	12	11	4	1	0	1	0	0	0	5	3	3	1	3	2	2	2	3	2	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:1080711C>A	ENST00000313093.2	+	16	2174	c.1943C>A	c.(1942-1944)tCc>tAc	p.S648Y	HMHA1_ENST00000539243.2_Missense_Mutation_p.S664Y|HMHA1_ENST00000536472.1_Missense_Mutation_p.S516Y|HMHA1_ENST00000543365.1_Missense_Mutation_p.S531Y|HMHA1_ENST00000590214.1_Missense_Mutation_p.S675Y|HMHA1_ENST00000590577.1_Missense_Mutation_p.S283Y|HMHA1_ENST00000586866.1_Missense_Mutation_p.S652Y	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	648					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CGGACGTCATCCAGTGGTACC	0.652													18	64					8.28177e-16	8.75847e-16	1	0	A	1080711	C	A	1080711	3	1	58	1	0	0	0	0	1	0	0	0	7290	855	30	2	2005	2	HMHA1	19	1080711	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08		1080711	58048272	878	11470											
MIDN	90007	broad.mit.edu	37	chr19	1254429	1254429	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgcatctccctcgcccatCacagccggctccttccggtc	4	9	7	21	3	2	0	1	0	1	0	7	0	4	0	6	2	2	2	6	2	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:1254429C>T	ENST00000300952.2	+	5	1163	c.648C>T	c.(646-648)atC>atT	p.I216I	MIDN_ENST00000591446.2_Silent_p.I216I	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	216						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CCTCGCCCATCACAGCCGGCT	0.711													3	4					0	0	0	0	T	1254429	C	T	1254429	2	4	58	1	0	0	0	0	0	0	0	1	9648	816	29	2		2	MIDN	19	1254429	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	173718	1254429	57874554	879	11471											
C19orf35	374872	broad.mit.edu	37	chr19	2275792	2275792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccccacctgcggcccgctCtgctaggcgcaggaccagca	6	6	11	18	3	1	0	0	0	1	0	2	1	2	1	5	3	3	4	5	3	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:2275792C>G	ENST00000342063.3	-	4	1402	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	437										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		GCGGCCCGCTCTGCTAGGCGC	0.741													3	5					0	0	0	0	G	2275792	C	G	2275792	3	3	58	1	0	0	0	0	1	0	0	0	1938	922	32	2	116	2	C19orf35	19	2275792	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1021363	2275792	56853191	880	11472											
LMNB2	84823	broad.mit.edu	37	chr19	2438470	2438470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcgctccggtggaacaggGactccaggtccttcacacgg	7	7	12	15	3	1	0	1	0	0	0	5	2	4	2	4	5	1	1	4	5	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:2438470G>A	ENST00000325327.3	-	3	523	c.461C>T	c.(460-462)tCc>tTc	p.S154F	LMNB2_ENST00000582871.1_Missense_Mutation_p.S134F			Q03252	LMNB2_HUMAN	lamin B2	134	Coil 1B.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		GTGGAACAGGGACTCCAGGTC	0.662													13	26					0	0	0	0	A	2438470	G	A	2438470	3	1	58	1	0	0	0	0	1	0	0	0	8905	1174	41	2	1441	2	LMNB2	19	2438470	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	162678	2438470	56690513	881	11473											
NFIC	4782	broad.mit.edu	37	chr19	3435121	3435121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctcgatggaggaagacgtgGacacgagccctggcggcgat	9	5	17	10	5	0	1	0	0	0	1	1	7	0	4	1	5	1	1	1	5	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:3435121G>C	ENST00000589123.1	+	6	967	c.847G>C	c.(847-849)Gac>Cac	p.D283H	NFIC_ENST00000590282.1_Missense_Mutation_p.D292H|NFIC_ENST00000586919.1_Missense_Mutation_p.D259H|NFIC_ENST00000443272.2_Missense_Mutation_p.D292H|NFIC_ENST00000395111.3_Missense_Mutation_p.D283H|NFIC_ENST00000346156.5_Missense_Mutation_p.D259H|NFIC_ENST00000341919.3_Missense_Mutation_p.D292H	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	292					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GGAAGACGTGGACACGAGCCC	0.662													4	4					0	0	0	0	C	3435121	G	C	3435121	3	2	58	1	0	0	0	0	1	0	0	0	10442	1174	41	2	903	2	NFIC	19	3435121	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	996651	3435121	55693862	882	11474											
TJP3	27134	broad.mit.edu	37	chr19	3734394	3734394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaccaccaccccggcatgCtcagcggagccccgaggcca	8	2	10	21	3	1	0	1	0	0	0	1	2	1	1	8	3	3	2	8	3	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:3734394C>T	ENST00000541714.2	+	8	1409	c.947C>T	c.(946-948)gCt>gTt	p.A316V	TJP3_ENST00000262968.9_Missense_Mutation_p.A349V|TJP3_ENST00000539908.2_Missense_Mutation_p.A280V|TJP3_ENST00000382008.3_Missense_Mutation_p.A330V|TJP3_ENST00000587686.1_Missense_Mutation_p.A335V|TJP3_ENST00000589378.1_Missense_Mutation_p.A325V	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	330						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGGCATGCTCAGCGGAGC	0.637													13	61					0	0	0	0	T	3734394	C	T	3734394	3	4	58	1	0	0	0	0	1	0	0	0	16025	797	28	4	1072	4	TJP3	19	3734394	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	299273	3734394	55394589	883	11475											
EEF2	1938	broad.mit.edu	37	chr19	3982347	3982347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacttggccacatacatctCggcaaactgcttcagggtga	11	9	10	11	1	2	1	1	1	1	0	3	2	2	1	1	3	4	2	1	3	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:3982347C>T	ENST00000309311.6	-	5	776	c.688G>A	c.(688-690)Gag>Aag	p.E230K		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	230						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATACATCTCGGCAAACTGC	0.597													34	87					0	0	0	0	T	3982347	C	T	3982347	3	4	58	1	0	0	0	0	1	0	0	0	4965	893	31	1	1932	1	EEF2	19	3982347	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	247953	3982347	55146636	884	11476											
ZNRF4	148066	broad.mit.edu	37	chr19	5456015	5456015	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactgcaccttcgacctcaaGgtgctgaacgcccagcgcgc	8	6	11	16	4	1	1	1	1	0	0	2	3	1	1	3	1	4	2	3	1	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:5456015G>A	ENST00000222033.4	+	1	590	c.513G>A	c.(511-513)aaG>aaA	p.K171K		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	171	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TCGACCTCAAGGTGCTGAACG	0.667													19	62					0	0	0	0	A	5456015	G	A	5456015	2	1	58	1	0	0	0	0	0	0	0	1	18307	991	35	4		4	ZNRF4	19	5456015	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1473668	5456015	53672968	885	11477											
SLC25A41	284427	broad.mit.edu	37	chr19	6427441	6427441	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggtgccctctcgctgcaaGatctgcctggcgcagtccag	5	8	13	15	3	2	1	0	0	2	1	4	1	3	1	3	2	3	3	3	2	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:6427441G>A	ENST00000321510.6	-	5	764	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	232					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						CTCGCTGCAAGATCTGCCTGG	0.627													5	12					0	0	0	0	A	6427441	G	A	6427441	2	1	58	1	0	0	0	0	0	0	0	1	14594	932	33	2		2	SLC25A41	19	6427441	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	971426	6427441	52701542	886	11478											
ZNF358	140467	broad.mit.edu	37	chr19	7585641	7585641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggcacgacgctggtcccGaccttgtgcccagcccagac	6	6	12	17	3	0	1	0	0	0	1	1	3	1	1	4	2	2	2	4	2	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:7585641G>A	ENST00000597229.1	+	2	1683	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	ZNF358_ENST00000394341.2_Missense_Mutation_p.D505N	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	505					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CGCTGGTCCCGACCTTGTGCC	0.652													33	97					0	0	0	0	A	7585641	G	A	7585641	3	1	58	1	0	0	0	0	1	0	0	0	17962	1058	37	1	1515	1	ZNF358	19	7585641	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1158200	7585641	51543342	887	11479											
MUC16	94025	broad.mit.edu	37	chr19	9057827	9057827	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaatccaggagtcaatgaGaatgttggctctgtcggaat	11	11	12	7	1	2	2	1	2	1	1	4	5	3	4	1	3	0	2	1	3	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9057827G>C	ENST00000397910.4	-	3	29822	c.29619C>G	c.(29617-29619)ttC>ttG	p.F9873L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9875	Ser-rich.|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						GAGTCAATGAGAATGTTGGCT	0.483													3	164					0	0	0	0	C	9057827	G	C	9057827	3	2	58	1	0	0	0	0	1	0	0	0	10043	933	33	2	14232	2	MUC16	19	9057827	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1472186	9057827	50071156	888	11480											
MUC16	94025	broad.mit.edu	37	chr19	9062946	9062946	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgagctgagcaaagcctGagatggatgttctgctagag	10	10	14	7	0	1	4	0	3	1	2	1	6	1	5	1	1	4	4	1	1	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9062946G>C	ENST00000397910.4	-	3	24703	c.24500C>G	c.(24499-24501)tCa>tGa	p.S8167*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8169	Ser-rich.|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						AGCAAAGCCTGAGATGGATGT	0.507													37	89					0	0	0	0	C	9062946	G	C	9062946	4	2	58	1	0	0	0	0	0	1	0	0	10043	1294	45	2	19351	2	MUC16	19	9062946	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	5119	9062946	50066037	889	11481											
MUC16	94025	broad.mit.edu	37	chr19	9065271	9065271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaagacagctgggaagatGgagggcttgtttcttccaca	12	10	12	7	0	1	2	0	0	1	2	2	4	2	4	1	3	1	3	1	3	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9065271G>A	ENST00000397910.4	-	3	22378	c.22175C>T	c.(22174-22176)cCa>cTa	p.P7392L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7394	Ser-rich.|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						CTGGGAAGATGGAGGGCTTGT	0.507													27	52					0	0	0	0	A	9065271	G	A	9065271	3	1	58	1	0	0	0	0	1	0	0	0	10043	1348	47	4	21676	4	MUC16	19	9065271	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2325	9065271	50063712	890	11482											
MUC16	94025	broad.mit.edu	37	chr19	9068706	9068706	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaggtcacagaaacaagaGaggaggtactgtgctcttgc	12	8	13	8	0	2	3	1	1	1	2	2	5	2	4	0	3	4	2	0	3	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9068706G>C	ENST00000397910.4	-	3	18943	c.18740C>G	c.(18739-18741)tCt>tGt	p.S6247C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6249	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						AGAAACAAGAGAGGAGGTACT	0.483													34	80					0	0	0	0	C	9068706	G	C	9068706	3	2	58	1	0	0	0	0	1	0	0	0	10043	942	33	2	25111	2	MUC16	19	9068706	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3435	9068706	50060277	891	11483											
ZNF560	147741	broad.mit.edu	37	chr19	9578057	9578057	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagaagaggtaaatggtttCccacatttgtaacacttaaa	15	11	8	7	0	0	2	0	0	0	2	1	2	1	2	1	2	1	4	1	2	6	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9578057C>T	ENST00000301480.4	-	10	1779	c.1566G>A	c.(1564-1566)ggG>ggA	p.G522G		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G522G(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TAAATGGTTTCCCACATTTGT	0.398													47	156					0	0	0	0	T	9578057	C	T	9578057	2	4	58	1	0	0	0	0	0	0	0	1	18086	842	30	2		2	ZNF560	19	9578057	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	509351	9578057	49550926	892	11484											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10221527	10221527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttctgccaggcggtgggcGaggcgcccagtgagggtatg	6	8	18	9	3	1	1	0	1	1	0	1	2	1	1	2	5	1	1	2	5	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10221527G>A	ENST00000428358.1	+	11	1358	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E396K|PPAN_ENST00000393793.1_Missense_Mutation_p.E343K|PPAN_ENST00000253107.7_Missense_Mutation_p.E396K|PPAN_ENST00000556468.1_Missense_Mutation_p.E396K	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		396					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GGCGGTGGGCGAGGCGCCCAG	0.612													57	210					0	0	0	0	A	10221527	G	A	10221527	3	1	58	1	0	0	0	0	1	0	0	0	12360	1059	37	1	1228	1	PPAN-P2RY11	19	10221527	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	643470	10221527	48907456	893	11485											
KEAP1	9817	broad.mit.edu	37	chr19	10610625	10610625	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggaggcgtacatcaccgcgtCccctgccccctcagggcact	6	6	11	18	3	2	0	2	0	0	0	3	1	3	1	5	3	2	2	5	3	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10610625C>G	ENST00000171111.5	-	2	632	c.85G>C	c.(85-87)Gac>Cac	p.D29H	KEAP1_ENST00000393623.2_Missense_Mutation_p.D29H	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ATCACCGCGTCCCCTGCCCCC	0.642													38	124					0	0	0	0	G	10610625	C	G	10610625	3	3	58	1	0	0	0	0	1	0	0	0	8193	855	30	2	1809	2	KEAP1	19	10610625	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	389098	10610625	48518358	894	11486											
KRI1	65095	broad.mit.edu	37	chr19	10675660	10675660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcgggggtccttcttcttCaacaaggagagcgttttgta	8	13	12	8	2	3	1	1	0	2	1	4	2	4	1	1	3	3	2	1	3	3	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10675660C>T	ENST00000312962.6	-	3	256	c.237G>A	c.(235-237)ttG>ttA	p.L79L	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.L75L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	79										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCTTCTTCTTCAACAAGGAGA	0.488											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	139					0	0	0	0	T	10675660	C	T	10675660	2	4	58	1	0	0	0	0	0	0	0	1	8496	825	29	2		2	KRI1	19	10675660	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	65035	10675660	48453323	895	11487											
AP1M2	10053	broad.mit.edu	37	chr19	10689577	10689577	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaggcccaccttgaccatGatctccacgcggctgtggga	8	7	11	15	2	1	2	0	2	1	0	2	3	1	3	5	3	0	1	5	3	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10689577G>A	ENST00000590923.1	-	8	968	c.885C>T	c.(883-885)atC>atT	p.I295I	AP1M2_ENST00000250244.6_Silent_p.I293I			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	293	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CCTTGACCATGATCTCCACGC	0.547													6	15					0	0	0	0	A	10689577	G	A	10689577	2	1	58	1	0	0	0	0	0	0	0	1	736	1280	45	2		2	AP1M2	19	10689577	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	13917	10689577	48439406	896	11488											
RGL3	57139	broad.mit.edu	37	chr19	11515837	11515837	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctacctggaaaagaatctCtctgctgctgaggtggttgt	8	13	11	9	0	3	2	0	1	3	1	4	3	3	3	1	3	3	3	1	3	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:11515837C>G	ENST00000380456.3	-	9	1234	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	RGL3_ENST00000393423.3_Missense_Mutation_p.E391Q	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	391	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AAAAGAATCTCTCTGCTGCTG	0.547													9	261					0	0	0	0	G	11515837	C	G	11515837	3	3	58	1	0	0	0	0	1	0	0	0	13360	922	32	2	1023	2	RGL3	19	11515837	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	826260	11515837	47613146	897	11489											
ZNF490	57474	broad.mit.edu	37	chr19	12721450	12721450	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgctctggacttgctcctcGaggggtcgctccatctggaa	5	12	12	12	2	2	0	0	0	2	0	6	3	4	2	2	4	2	3	2	4	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:12721450G>C	ENST00000311437.6	-	1	167	c.45C>G	c.(43-45)ctC>ctG	p.L15L	ZNF490_ENST00000465656.1_Intron	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTGCTCCTCGAGGGGTCGCT	0.567													39	104					0	0	0	0	C	12721450	G	C	12721450	2	2	58	1	0	0	0	0	0	0	0	1	18036	1045	37	3		3	ZNF490	19	12721450	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1205613	12721450	46407533	898	11490											
ZNF791	163049	broad.mit.edu	37	chr19	12734532	12734532	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggactcagtggcttttgagGatgtgtctgtgagcttcagc	7	13	14	7	0	3	2	2	2	1	0	3	4	3	4	0	3	2	2	0	3	0	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:12734532G>A	ENST00000458122.3	+	0	322				ZNF791_ENST00000540038.1_Intron|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_Missense_Mutation_p.D8N|ZNF791_ENST00000343325.4_Missense_Mutation_p.D8N			Q3KP31	ZN791_HUMAN	zinc finger protein 791						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GGCTTTTGAGGATGTGTCTGT	0.453													7	248					0	0	0	0	A	12734532	G	A	12734532	1	1	58	1	0	0	0	0	0	0	0	0	18256	1174	41	2		2	ZNF791	19	12734532	Translation_Start_Site	SNP	G	TCGA-CN-4723-01A-01D-1434-08	13082	12734532	46394451	899	11491											
RAD23A	5886	broad.mit.edu	37	chr19	13060211	13060211	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgggccaggagaaccctCagcttttacaggtgtggtcc	8	9	13	11	0	1	1	1	0	0	1	2	2	2	1	3	4	4	2	3	4	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:13060211C>G	ENST00000586534.1	+	7	863	c.802C>G	c.(802-804)Cag>Gag	p.Q268E	RAD23A_ENST00000541222.1_Missense_Mutation_p.Q103E|RAD23A_ENST00000316856.3_Missense_Mutation_p.Q267E|RAD23A_ENST00000592268.1_Missense_Mutation_p.Q268E|RAD23A_ENST00000588826.2_3'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	268					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GGAGAACCCTCAGCTTTTACA	0.612								Nucleotide excision repair (NER)					35	128					0	0	0	0	G	13060211	C	G	13060211	3	3	58	1	0	0	0	0	1	0	0	0	13064	827	29	2	828	2	RAD23A	19	13060211	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	325679	13060211	46068772	900	11492											
WIZ	58525	broad.mit.edu	37	chr19	15547894	15547894	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtcgaagccagccccgcaGaagtcacagcgcatcaggct	10	5	12	14	3	2	1	2	0	0	1	3	2	2	1	3	1	3	3	3	1	2	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:15547894G>A	ENST00000389282.4	-	4	2532	c.2319C>T	c.(2317-2319)ttC>ttT	p.F773F	WIZ_ENST00000263381.6_Silent_p.F84F|WIZ_ENST00000595214.2_5'UTR			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	773						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CAGCCCCGCAGAAGTCACAGC	0.647													6	21					0	0	0	0	A	15547894	G	A	15547894	2	1	58	1	0	0	0	0	0	0	0	1	17471	933	33	2		2	WIZ	19	15547894	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2487683	15547894	43581089	901	11493											
ZNF99	7652	broad.mit.edu	37	chr19	22941540	22941540	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagggtttctgtccagtatGaattatctcatgttttctaa	9	18	8	6	0	3	1	1	1	3	0	5	1	4	1	1	1	0	4	1	1	5	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:22941540G>C	ENST00000397104.3	-	5	897	c.898C>G	c.(898-900)Cat>Gat	p.H300D	ZNF99_ENST00000596209.1_Missense_Mutation_p.H391D					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTCCAGTATGAATTATCTCA	0.353													4	149					0	0	0	0	C	22941540	G	C	22941540	3	2	58	1	0	0	0	0	1	0	0	0	18297	1290	45	2	2226	2	ZNF99	19	22941540	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	7393646	22941540	36187443	902	11494											
C19orf12	83636	broad.mit.edu	37	chr19	30193787	30193787	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggcttcgttaaagagcctCtgttgctcggcagggggcag	6	9	16	10	3	1	1	0	0	1	1	3	1	1	1	1	4	2	6	1	4	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:30193787C>G	ENST00000323670.9	-	3	397	c.258G>C	c.(256-258)caG>caC	p.Q86H	C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392278.2_Missense_Mutation_p.Q97H|C19orf12_ENST00000392276.1_Missense_Mutation_p.Q22H|C19orf12_ENST00000592153.1_Missense_Mutation_p.Q86H	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	86						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			TAAAGAGCCTCTGTTGCTCGG	0.632													6	144					0	0	0	0	G	30193787	C	G	30193787	3	3	58	1	0	0	0	0	1	0	0	0	1927	912	32	2	171	2	C19orf12	19	30193787	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	7252247	30193787	28935196	903	11495											
ZNF536	9745	broad.mit.edu	37	chr19	30936498	30936498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcggcgtggctcgggcagtGaccaggagtcccagtcggtg	6	6	18	11	4	0	1	0	1	0	0	3	2	1	2	2	5	1	2	2	5	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:30936498G>A	ENST00000355537.3	+	2	2176	c.2029G>A	c.(2029-2031)Gac>Aac	p.D677N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	677					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTCGGGCAGTGACCAGGAGTC	0.706													15	34					0	0	0	0	A	30936498	G	A	30936498	3	1	58	1	0	0	0	0	1	0	0	0	18069	1290	45	2	2031	2	ZNF536	19	30936498	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	742711	30936498	28192485	904	11496											
C19orf40	91442	broad.mit.edu	37	chr19	33467558	33467558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaagcagtggcacagcaGatccatgccttcttcacgca	11	7	10	13	1	2	1	1	0	1	1	3	2	3	2	2	2	3	4	2	2	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:33467558G>T	ENST00000588258.1	+	5	728	c.618G>T	c.(616-618)caG>caT	p.Q206H	C19orf40_ENST00000589646.1_Missense_Mutation_p.Q111H|C19orf40_ENST00000590179.1_Missense_Mutation_p.Q111H|C19orf40_ENST00000590281.1_Missense_Mutation_p.Q206H	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	206	RuvA domain 2-like.				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGGCACAGCAGATCCATGCCT	0.542								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	135					6.1207e-33	6.61508e-33	1	0	T	33467558	G	T	33467558	3	4	58	1	0	0	0	0	1	0	0	0	1941	933	33	2	632	2	C19orf40	19	33467558	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2531060	33467558	25661425	905	11497											
LRP3	4037	broad.mit.edu	37	chr19	33696521	33696521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggccctcagaccttcactGcacgtggctggtggacacac	7	7	12	15	2	2	1	2	0	0	1	2	2	2	2	2	4	1	2	2	4	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:33696521G>A	ENST00000253193.7	+	5	1047	c.845G>A	c.(844-846)tGc>tAc	p.C282Y		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	282	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GACCTTCACTGCACGTGGCTG	0.692													9	26					0	0	0	0	A	33696521	G	A	33696521	3	1	58	1	0	0	0	0	1	0	0	0	9022	1319	46	4	863	4	LRP3	19	33696521	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	228963	33696521	25432462	906	11498											
ZNF566	84924	broad.mit.edu	37	chr19	36940594	36940594	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcaaactgtgagccatgtCtaaaggttttcctatattct	11	15	7	8	0	2	1	0	1	2	0	3	1	3	1	2	1	3	2	2	1	6	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:36940594C>G	ENST00000454319.1	-	5	679	c.545G>C	c.(544-546)aGa>aCa	p.R182T	ZNF566_ENST00000392170.2_Missense_Mutation_p.R182T|ZNF566_ENST00000424129.2_Missense_Mutation_p.R181T|ZNF566_ENST00000493391.1_Missense_Mutation_p.R77T|ZNF566_ENST00000434377.2_Missense_Mutation_p.R181T	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGAGCCATGTCTAAAGGTTTT	0.378													51	137					0	0	0	0	G	36940594	C	G	36940594	3	3	58	1	0	0	0	0	1	0	0	0	18092	913	32	2	718	2	ZNF566	19	36940594	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3244073	36940594	22188389	907	11499											
ZNF829	374899	broad.mit.edu	37	chr19	37383092	37383092	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtgaatcctctgatgtcGagtaacgagtgagccacgac	11	9	12	9	3	1	3	0	3	1	0	3	6	2	3	2	0	2	1	2	0	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:37383092G>A	ENST00000520965.1	-	6	910	c.844C>T	c.(844-846)Cga>Tga	p.R282*	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Nonsense_Mutation_p.R201*	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTGATGTCGAGTAACGAGT	0.373													23	101					0	0	0	0	A	37383092	G	A	37383092	4	1	58	1	0	0	0	0	0	1	0	0	18275	1066	37	1	701	1	ZNF829	19	37383092	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	442498	37383092	21745891	908	11500											
ZNF585A	199704	broad.mit.edu	37	chr19	37643675	37643675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggtttctctccagtgtGaattctctgatgaataatca	12	15	7	7	0	3	3	1	3	2	0	6	3	4	3	1	1	0	1	1	1	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:37643675G>T	ENST00000356958.4	-	5	1384	c.1126C>A	c.(1126-1128)Cac>Aac	p.H376N	ZNF585A_ENST00000392157.2_Missense_Mutation_p.H321N|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.H321N|ZNF585A_ENST00000355533.2_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGTGTGAATTCTCTGA	0.408													64	134					9.07738e-34	9.81921e-34	1	0	T	37643675	G	T	37643675	3	4	58	1	0	0	0	0	1	0	0	0	18112	1290	45	2	1187	2	ZNF585A	19	37643675	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	260583	37643675	21485308	909	11501											
ZNF607	84775	broad.mit.edu	37	chr19	38189234	38189234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataataagatgtgaagcatGactaaaagtttccccacatt	17	11	6	7	0	0	3	0	2	0	1	1	3	1	3	2	0	1	2	2	0	6	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:38189234G>T	ENST00000355202.4	-	5	2393	c.1798C>A	c.(1798-1800)Cat>Aat	p.H600N	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.H599N	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TGTGAAGCATGACTAAAAGTT	0.398													23	78					5.45024e-15	5.75407e-15	1	0	T	38189234	G	T	38189234	3	4	58	1	0	0	0	0	1	0	0	0	18128	1290	45	2	296	2	ZNF607	19	38189234	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	545559	38189234	20939749	910	11502											
EID2B	126272	broad.mit.edu	37	chr19	40023100	40023100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaacagcctgcggcgttcctCgaaatcccgtagtaatctga	11	9	9	12	4	1	1	0	1	1	0	4	2	3	1	3	1	3	3	3	1	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:40023100C>G	ENST00000326282.4	-	1	394	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	EID2B_ENST00000601837.1_Intron|CTB-60E11.9_ENST00000594676.1_RNA	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	115					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGGCGTTCCTCGAAATCCCGT	0.557													34	60					0	0	0	0	G	40023100	C	G	40023100	3	3	58	1	0	0	0	0	1	0	0	0	5024	893	31	3	146	3	EID2B	19	40023100	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1833866	40023100	19105883	911	11503											
FCGBP	8857	broad.mit.edu	37	chr19	40430302	40430302	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcaccaggacgaagccAacttcaccgcgggtcagcga	11	5	11	14	4	3	0	3	0	0	0	3	3	3	1	3	2	4	1	3	2	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:40430302A>G	ENST00000221347.6	-	3	1648	c.1641T>C	c.(1639-1641)gtT>gtC	p.V547V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	547	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACGAAGCCAACTTCACCGC	0.647													12	31					0	0	0	0	G	40430302	A	G	40430302	2	3	58	1	0	0	0	0	0	0	0	1	5823	117	5	5		5	FCGBP	19	40430302	Silent	SNP	A	TCGA-CN-4723-01A-01D-1434-08	407202	40430302	18698681	912	11504											
MAP3K10	4294	broad.mit.edu	37	chr19	40698342	40698342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaccctgagaaggaccCggcagtgacagcggagcagg	10	3	17	11	2	0	2	0	2	0	1	0	6	0	5	2	5	2	3	2	5	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:40698342C>T	ENST00000253055.3	+	1	692	c.404C>T	c.(403-405)cCg>cTg	p.P135L	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	135	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GAGAAGGACCCGGCAGTGACA	0.662													12	67					0	0	0	0	T	40698342	C	T	40698342	3	4	58	1	0	0	0	0	1	0	0	0	9313	652	23	1	406	1	MAP3K10	19	40698342	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	268040	40698342	18430641	913	11505											
SPTBN4	57731	broad.mit.edu	37	chr19	41074133	41074133	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcggcgtgagcggcgcttgGagcggcaggagtccagcgaa	8	4	19	10	6	0	1	0	1	0	0	1	4	1	3	1	5	4	2	1	5	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:41074133G>C	ENST00000352632.3	+	31	6987	c.6901G>C	c.(6901-6903)Gag>Cag	p.E2301Q	SPTBN4_ENST00000392025.1_Missense_Mutation_p.E1044Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E2301Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2301					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGGCGCTTGGAGCGGCAGGA	0.667													2	9					0	0	0	0	C	41074133	G	C	41074133	3	2	58	1	0	0	0	0	1	0	0	0	15211	1175	41	2	7113	2	SPTBN4	19	41074133	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	375791	41074133	18054850	914	11506											
CCDC97	90324	broad.mit.edu	37	chr19	41825513	41825513	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtgatgagcagatgcggttCcgggcccccctgctatatga	8	9	13	11	2	0	4	0	3	0	1	1	4	1	4	4	2	3	3	4	2	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:41825513C>G	ENST00000269967.3	+	3	659	c.537C>G	c.(535-537)ttC>ttG	p.F179L		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	179										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						AGATGCGGTTCCGGGCCCCCC	0.627													34	158					0	0	0	0	G	41825513	C	G	41825513	3	3	58	1	0	0	0	0	1	0	0	0	2902	854	30	2	547	2	CCDC97	19	41825513	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	751380	41825513	17303470	915	11507											
POU2F2	5452	broad.mit.edu	37	chr19	42600360	42600360	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggggggctgcgggtgcgaGaggtgcgggtcgggcagcgt	3	7	24	7	5	0	1	0	0	0	1	1	2	0	1	0	7	4	2	0	7	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:42600360G>C	ENST00000342301.4	-	8	603	c.537C>G	c.(535-537)ctC>ctG	p.L179L	POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000560398.1_Intron|POU2F2_ENST00000533720.1_Intron|POU2F2_ENST00000529067.1_Intron|POU2F2_ENST00000389341.5_Intron|POU2F2_ENST00000529952.1_Silent_p.L179L|POU2F2_ENST00000526816.2_Silent_p.L179L			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	179					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GCGGGTGCGAGAGGTGCGGGT	0.687													6	29					0	0	0	0	C	42600360	G	C	42600360	2	2	58	1	0	0	0	0	0	0	0	1	12343	957	33	2		2	POU2F2	19	42600360	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	774847	42600360	16528623	916	11508											
PSG8	440533	broad.mit.edu	37	chr19	43268174	43268174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgggtgacattctggatCagcagggatgcattggaata	10	11	13	7	0	2	1	1	1	1	0	3	4	3	4	1	4	2	2	1	4	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:43268174C>T	ENST00000404209.4	-	2	420	c.324G>A	c.(322-324)ctG>ctA	p.L108L	PSG8_ENST00000401467.2_Silent_p.L108L|PSG8_ENST00000306511.4_Silent_p.L108L|PSG8_ENST00000406636.3_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	108	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CATTCTGGATCAGCAGGGATG	0.418													179	481					0	0	0	0	T	43268174	C	T	43268174	2	4	58	1	0	0	0	0	0	0	0	1	12740	813	29	2		2	PSG8	19	43268174	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	667814	43268174	15860809	917	11509											
PSG5	5673	broad.mit.edu	37	chr19	43689186	43689186	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgtagccagcaagattctGaggcaaattgtggacaagta	14	9	12	6	0	1	2	0	1	1	1	1	4	1	3	1	2	2	4	1	2	5	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:43689186G>C	ENST00000404580.1	-	2	266	c.178C>G	c.(178-180)Cag>Gag	p.Q60E	PSG5_ENST00000599812.1_Missense_Mutation_p.Q60E|PSG5_ENST00000342951.6_Missense_Mutation_p.Q60E|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407356.1_Missense_Mutation_p.Q60E|PSG5_ENST00000407568.1_Missense_Mutation_p.Q60E|PSG5_ENST00000366175.3_Missense_Mutation_p.Q60E			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	60	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GCAAGATTCTGAGGCAAATTG	0.448													105	356					0	0	0	0	C	43689186	G	C	43689186	3	2	58	1	0	0	0	0	1	0	0	0	12737	1299	45	2	845	2	PSG5	19	43689186	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	421012	43689186	15439797	918	11510											
ZNF296	162979	broad.mit.edu	37	chr19	45579002	45579002	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgcggctggggcctctgaaGagctgacagcccagcttctt	6	8	13	14	2	2	3	0	2	2	1	2	3	2	3	3	3	3	3	3	3	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:45579002G>C	ENST00000303809.2	-	2	631	c.417C>G	c.(415-417)ctC>ctG	p.L139L		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	139					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGCCTCTGAAGAGCTGACAGC	0.632													36	106					0	0	0	0	C	45579002	G	C	45579002	2	2	58	1	0	0	0	0	0	0	0	1	17923	929	33	2		2	ZNF296	19	45579002	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1889816	45579002	13549981	919	11511											
DACT3	147906	broad.mit.edu	37	chr19	47151760	47151760	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacactgtagtcatgaccttGagagaacccgaacggaaacg	14	6	10	11	3	1	3	1	2	0	1	1	6	1	4	2	1	3	1	2	1	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:47151760G>C	ENST00000391916.2	-	4	1942	c.1869C>G	c.(1867-1869)ctC>ctG	p.L623L	DACT3_ENST00000300875.4_Silent_p.L398L	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	623										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		TCATGACCTTGAGAGAACCCG	0.562													108	372					0	0	0	0	C	47151760	G	C	47151760	2	2	58	1	0	0	0	0	0	0	0	1	4256	1277	45	2		2	DACT3	19	47151760	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1572758	47151760	11977223	920	11512											
MEIS3	56917	broad.mit.edu	37	chr19	47912796	47912796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatggtctcgaatccaCatattattctagaaaacaag	14	12	5	10	1	3	1	1	0	2	1	6	2	5	1	2	1	1	0	2	1	7	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:47912796C>A	ENST00000331559.5	-	7	996	c.555G>T	c.(553-555)atG>atT	p.M185I	MEIS3_ENST00000561096.1_Missense_Mutation_p.M290I|MEIS3_ENST00000559524.1_Missense_Mutation_p.M202I|MEIS3_ENST00000441740.2_Missense_Mutation_p.M185I|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561293.1_Missense_Mutation_p.M202I|MEIS3_ENST00000558555.1_Missense_Mutation_p.M202I	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	202						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CTCGAATCCACATATTATTCT	0.567													44	124					2.26627e-22	2.42169e-22	1	0	A	47912796	C	A	47912796	3	1	58	1	0	0	0	0	1	0	0	0	9538	478	17	4	683	4	MEIS3	19	47912796	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	761036	47912796	11216187	921	11513											
SNRNP70	6625	broad.mit.edu	37	chr19	49611111	49611111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaccgtgagcgggagcgcaGagagcggagccgggagcgag	9	1	22	9	6	0	2	0	1	0	1	0	8	0	6	2	4	5	1	2	4	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:49611111G>A	ENST00000221448.5	+	10	894	c.698G>A	c.(697-699)aGa>aAa	p.R233K	SNRNP70_ENST00000598441.1_Missense_Mutation_p.R242K	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	242	Arg/Glu-rich (mixed charge).				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CGGGAGCGCAGAGAGCGGAGC	0.746													4	9					0	0	0	0	A	49611111	G	A	49611111	3	1	58	1	0	0	0	0	1	0	0	0	14946	942	33	2	759	2	SNRNP70	19	49611111	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1698315	49611111	9517872	922	11514											
PNKP	11284	broad.mit.edu	37	chr19	50364730	50364730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccatacatgaccatgtctGacacggggatatgagaggag	13	7	13	8	1	1	3	0	3	1	1	1	6	1	5	2	3	2	0	2	3	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:50364730G>A	ENST00000322344.3	-	16	1533	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	PNKP_ENST00000600573.1_Missense_Mutation_p.S444L|PNKP_ENST00000600910.1_Silent_p.V438V|PNKP_ENST00000596014.1_Missense_Mutation_p.S475L	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	475					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GACCATGTCTGACACGGGGAT	0.622								Other BER factors					27	83					0	0	0	0	A	50364730	G	A	50364730	3	1	58	1	0	0	0	0	1	0	0	0	12219	1294	45	2	149	2	PNKP	19	50364730	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	753619	50364730	8764253	923	11515											
ZNF473	25888	broad.mit.edu	37	chr19	50549104	50549104	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaatgcgtcaggagtttCagccggccctcacatctgat	9	9	11	12	2	4	1	3	1	1	0	4	3	4	3	2	3	2	1	2	3	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:50549104C>T	ENST00000595661.1	+	6	1899	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Silent_p.F468F|ZNF473_ENST00000445728.3_Silent_p.F456F|ZNF473_ENST00000391821.2_Silent_p.F468F			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	468	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGGAGTTTCAGCCGGCCCT	0.522													11	38					0	0	0	0	T	50549104	C	T	50549104	2	4	58	1	0	0	0	0	0	0	0	1	18026	825	29	2		2	ZNF473	19	50549104	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	184374	50549104	8579879	924	11516											
LRRC4B	94030	broad.mit.edu	37	chr19	51022334	51022334	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggttgcacatgcccaggttGaggtagcgcaggttgaccag	9	8	15	9	1	0	2	0	2	0	0	0	2	0	2	2	4	3	6	2	4	1	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:51022334G>A	ENST00000599957.1	-	3	833	c.636C>T	c.(634-636)ctC>ctT	p.L212L	LRRC4B_ENST00000389201.3_Silent_p.L212L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	212						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGCCCAGGTTGAGGTAGCGCA	0.677													14	23					0	0	0	0	A	51022334	G	A	51022334	2	1	58	1	0	0	0	0	0	0	0	1	9071	1277	45	2		2	LRRC4B	19	51022334	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	473230	51022334	8106649	925	11517											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52149128	52149129	+	Frame_Shift_Ins	INS	-	-	G																															gtgccatggtcctcgggcctINSgggggtgagggtgagctccg																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52149128_52149129insG	ENST00000360844.6	-	3	647_648	c.606_607insC	c.(604-609)ccggccfs	p.A203fs	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	203	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCCTCGGGCCTGGGGGTGAGGG	0.634													10	49	---	---	---	---					G	52149129	-	G	52149128	7	5	58	1	0	1	1	0	0	0	0	0	14397	1579	55	0	603	0	SIGLEC14	19	52149128	Frame_Shift_Ins	INS	-	TCGA-CN-4723-01A-01D-1434-08	1126794	52149128	6979855	926	11518											
ZNF836	162962	broad.mit.edu	37	chr19	52659726	52659726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccactatgaactgtctgatGagttgccaggttggaacttt	9	14	10	8	0	1	3	0	3	1	0	2	4	2	4	2	2	3	2	2	2	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52659726G>A	ENST00000322146.8	-	5	1731	c.1210C>T	c.(1210-1212)Cat>Tat	p.H404Y	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.H404Y	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACTGTCTGATGAGTTGCCAGG	0.403													5	105					0	0	0	0	A	52659726	G	A	52659726	3	1	58	1	0	0	0	0	1	0	0	0	18280	1290	45	2	1602	2	ZNF836	19	52659726	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	510598	52659726	6469257	927	11519											
PPP2R1A	5518	broad.mit.edu	37	chr19	52724383	52724383	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactacgctcttctgcatCaatgtgagccttccacctgc	8	12	7	14	1	3	2	1	2	2	0	4	2	4	2	3	0	4	2	3	0	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52724383C>A	ENST00000322088.6	+	12	1573	c.1515C>A	c.(1513-1515)atC>atA	p.I505I	PPP2R1A_ENST00000462990.1_Silent_p.I326I|PPP2R1A_ENST00000444322.2_Silent_p.I450I	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	505	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TCTTCTGCATCAATGTGAGCC	0.597			Mis		clear cell ovarian carcinoma								38	129					4.32679e-17	4.59162e-17	1	0	A	52724383	C	A	52724383	2	1	58	1	0	0	0	0	0	0	0	1	12458	816	29	2		2	PPP2R1A	19	52724383	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	64657	52724383	6404600	928	11520											
ZNF534	147658	broad.mit.edu	37	chr19	52941053	52941053	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaacatggattaactcttCagttacatctgactgaatgg	13	13	7	8	0	4	2	2	2	2	0	4	3	4	3	0	2	3	1	0	2	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52941053C>T	ENST00000332323.6	+	4	440	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Nonsense_Mutation_p.Q114*	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATTAACTCTTCAGTTACATCT	0.348													19	43					0	0	0	0	T	52941053	C	T	52941053	4	4	58	1	0	0	0	0	0	1	0	0	18068	827	29	2	393	2	ZNF534	19	52941053	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	216670	52941053	6187930	929	11521											
ZNF83	55769	broad.mit.edu	37	chr19	53117232	53117232	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctccggtatgaattctttGatgttgtgcaaggtgtgaaa	9	15	11	6	1	2	3	0	3	2	0	3	3	2	3	1	2	1	3	1	2	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:53117232G>A	ENST00000597597.1	-	2	2839	c.586C>T	c.(586-588)Caa>Taa	p.Q196*	ZNF83_ENST00000544146.1_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000536937.1_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000301096.3_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000541777.2_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Nonsense_Mutation_p.Q196*			P51522	ZNF83_HUMAN	zinc finger protein 83	196						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGAATTCTTTGATGTTGTGCA	0.383													42	141					0	0	0	0	A	53117232	G	A	53117232	4	1	58	1	0	0	0	0	0	1	0	0	18276	1299	45	2	968	2	ZNF83	19	53117232	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	176179	53117232	6011751	930	11522											
ZNF415	55786	broad.mit.edu	37	chr19	53612605	53612605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacttacctgacgtacagtCatgtgtgagccatgattcaa	11	12	9	9	1	2	4	2	4	0	0	2	4	2	4	2	0	3	1	2	0	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:53612605C>T	ENST00000455735.2	-	7	1157	c.837G>A	c.(835-837)atG>atA	p.M279I	ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.M279I|ZNF415_ENST00000243643.4_Missense_Mutation_p.M231I|ZNF415_ENST00000440291.1_Missense_Mutation_p.M218I|ZNF415_ENST00000601493.1_Start_Codon_SNP_p.M1I|ZNF415_ENST00000421033.1_Missense_Mutation_p.M243I|ZNF415_ENST00000500065.4_Missense_Mutation_p.M231I|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	p.M231I(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GACGTACAGTCATGTGTGAGC	0.403													54	134					0	0	0	0	T	53612605	C	T	53612605	3	4	58	1	0	0	0	0	1	0	0	0	17987	826	29	2	978	2	ZNF415	19	53612605	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	495373	53612605	5516378	931	11523											
ZNF331	55422	broad.mit.edu	37	chr19	54080889	54080889	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagccgtacaagtgcacaGaatgtgggaaggccttcaat	14	7	12	8	1	1	2	1	0	0	2	1	3	1	3	2	2	3	2	2	2	6	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:54080889G>C	ENST00000253144.9	+	7	2408	c.1075G>C	c.(1075-1077)Gaa>Caa	p.E359Q	ZNF331_ENST00000411977.2_Missense_Mutation_p.E359Q|ZNF331_ENST00000512387.1_Missense_Mutation_p.E359Q|ZNF331_ENST00000511593.2_Missense_Mutation_p.E359Q|ZNF331_ENST00000511154.1_Missense_Mutation_p.E359Q|ZNF331_ENST00000449416.1_Missense_Mutation_p.E359Q|ZNF331_ENST00000513999.1_Missense_Mutation_p.E359Q|ZNF331_ENST00000513265.1_3'UTR	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CAAGTGCACAGAATGTGGGAA	0.527			T	?	follicular thyroid adenoma								22	64					0	0	0	0	C	54080889	G	C	54080889	3	2	58	1	0	0	0	0	1	0	0	0	17944	943	33	2	1085	2	ZNF331	19	54080889	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	468284	54080889	5048094	932	11524											
KIR3DL1	3811	broad.mit.edu	37	chr19	55340901	55340901	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttctttctccttcatctCtggtgctccaacaaaaaaag	10	14	4	13	0	5	0	1	0	4	0	8	0	6	0	2	1	2	1	2	1	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:55340901C>G	ENST00000391728.4	+	7	1119	c.1086C>G	c.(1084-1086)ctC>ctG	p.L362L	KIR3DL1_ENST00000538269.1_Silent_p.L362L|KIR3DL1_ENST00000541392.1_Silent_p.L345L|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Silent_p.L267L|KIR3DL1_ENST00000326542.7_Silent_p.L345L	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		tccttcatctcTGGTGCTCCA	0.532													52	80					0	0	0	0	G	55340901	C	G	55340901	2	3	58	1	0	0	0	0	0	0	0	1	8372	900	32	2		2	KIR3DL1	19	55340901	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1260012	55340901	3788082	933	11525											
NLRP7	199713	broad.mit.edu	37	chr19	55450851	55450851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgtccaggaacagacGgaggtcggactcctgcaccc	8	6	12	15	3	1	1	0	0	1	1	5	4	3	4	4	4	2	1	4	4	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:55450851G>A	ENST00000446217.1	-	6	1822	c.1420C>T	c.(1420-1422)Cgt>Tgt	p.R474C	NLRP7_ENST00000448121.2_Missense_Mutation_p.R446C|NLRP7_ENST00000592784.1_Missense_Mutation_p.R446C|NLRP7_ENST00000328092.5_Missense_Mutation_p.R446C|NLRP7_ENST00000590030.1_Missense_Mutation_p.R446C|NLRP7_ENST00000340844.2_Missense_Mutation_p.R446C|NLRP7_ENST00000588756.1_Missense_Mutation_p.R446C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	446	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)		AGGAACAGACGGAGGTCGGAC	0.632													21	70					0	0	0	0	A	55450851	G	A	55450851	3	1	58	1	0	0	0	0	1	0	0	0	10552	1116	39	1	1809	1	NLRP7	19	55450851	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	109950	55450851	3678132	934	11526											
SUV420H2	84787	broad.mit.edu	37	chr19	55853367	55853367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgacctggccaccagcctCgtcctggacccctacctcgg	6	6	10	19	3	0	0	0	0	0	0	3	3	1	1	8	3	2	0	8	3	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:55853367C>T	ENST00000255613.3	+	2	311	c.63C>T	c.(61-63)ctC>ctT	p.L21L	SUV420H2_ENST00000402499.4_3'UTR|AC020922.1_ENST00000539076.1_5'UTR	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCACCAGCCTCGTCCTGGACC	0.662													43	108					0	0	0	0	T	55853367	C	T	55853367	2	4	58	1	0	0	0	0	0	0	0	1	15505	871	31	1		1	SUV420H2	19	55853367	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	402516	55853367	3275616	935	11527											
CCDC106	29903	broad.mit.edu	37	chr19	56162717	56162717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgtggtggggctgggggcGaggcctcggaccctgagtca	4	6	20	11	3	1	1	1	1	0	0	2	3	1	2	3	7	0	1	3	7	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56162717G>A	ENST00000586790.1	+	4	1286	c.382G>A	c.(382-384)Gag>Aag	p.E128K	CCDC106_ENST00000591578.1_Missense_Mutation_p.E128K|CCDC106_ENST00000308964.3_Missense_Mutation_p.E128K|CCDC106_ENST00000591241.1_Missense_Mutation_p.E93K|CCDC106_ENST00000588740.1_Missense_Mutation_p.E128K			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	128						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GGCTGGGGGCGAGGCCTCGGA	0.667													18	30					0	0	0	0	A	56162717	G	A	56162717	3	1	58	1	0	0	0	0	1	0	0	0	2766	1059	37	1	396	1	CCDC106	19	56162717	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	309350	56162717	2966266	936	11528											
NLRP11	204801	broad.mit.edu	37	chr19	56303801	56303801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagcactcttccaagggcGctgcagcaattttcagtgag	11	9	11	10	1	2	2	1	1	1	1	3	2	3	2	1	1	3	4	1	1	3	3	rs114762114	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56303801G>C	ENST00000443188.1	-	9	3089	c.2379C>G	c.(2377-2379)agC>agG	p.S793R	NLRP11_ENST00000589093.1_Missense_Mutation_p.S793R|NLRP11_ENST00000360133.3_Missense_Mutation_p.S739R|NLRP11_ENST00000589824.2_Missense_Mutation_p.S739R|NLRP11_ENST00000592953.1_Missense_Mutation_p.S694R	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	793							ATP binding	p.S793S(1)		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)		TTCCAAGGGCGCTGCAGCAAT	0.493													35	101					0	0	0	0	C	56303801	G	C	56303801	3	2	58	1	0	0	0	0	1	0	0	0	10543	1078	38	3	738	3	NLRP11	19	56303801	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	141084	56303801	2825182	937	11529											
NLRP13	126204	broad.mit.edu	37	chr19	56423803	56423803	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtggagaacaagttggaGaaaaaataggcatacagact	17	7	12	5	0	0	3	0	0	0	3	0	5	0	3	0	3	2	3	0	3	7	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56423803G>A	ENST00000588751.1	-	5	1404	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	NLRP13_ENST00000342929.3_Silent_p.F460F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	460	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACAAGTTGGAGAAAAAATAGG	0.507													42	106					0	0	0	0	A	56423803	G	A	56423803	2	1	58	1	0	0	0	0	0	0	0	1	10545	933	33	2		2	NLRP13	19	56423803	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	120002	56423803	2705180	938	11530											
NLRP5	126206	broad.mit.edu	37	chr19	56515156	56515156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcccccaaaacctgagctCtcagccttgtatcaagatgg	10	11	7	13	0	2	2	2	1	1	1	4	2	3	2	4	1	3	2	4	1	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56515156C>T	ENST00000390649.3	+	2	137	c.137C>T	c.(136-138)tCt>tTt	p.S46F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	46						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AACCTGAGCTCTCAGCCTTGT	0.438													48	132					0	0	0	0	T	56515156	C	T	56515156	3	4	58	1	0	0	0	0	1	0	0	0	10550	913	32	2	143	2	NLRP5	19	56515156	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	91353	56515156	2613827	939	11531											
ZNF471	57573	broad.mit.edu	37	chr19	57027752	57027752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtatgatgttggagaactatCagagcctggtatcacttggt	10	13	12	6	0	2	3	2	1	0	2	2	4	2	3	1	3	2	3	1	3	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:57027752C>G	ENST00000308031.5	+	3	275	c.142C>G	c.(142-144)Cag>Gag	p.Q48E	ZNF471_ENST00000591537.1_Missense_Mutation_p.Q48E|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GGAGAACTATCAGAGCCTGGT	0.373													44	147					0	0	0	0	G	57027752	C	G	57027752	3	3	58	1	0	0	0	0	1	0	0	0	18025	827	29	2	148	2	ZNF471	19	57027752	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	512596	57027752	2101231	940	11532											
ZNF471	57573	broad.mit.edu	37	chr19	57037129	57037129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactcaacatcaaagaattCatactggagagaaaccctat	17	10	5	9	0	3	2	3	0	0	2	3	4	3	3	1	1	4	0	1	1	7	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:57037129C>T	ENST00000308031.5	+	5	1826	c.1693C>T	c.(1693-1695)Cat>Tat	p.H565Y	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TCAAAGAATTCATACTGGAGA	0.423													30	86					0	0	0	0	T	57037129	C	T	57037129	3	4	58	1	0	0	0	0	1	0	0	0	18025	826	29	2	1707	2	ZNF471	19	57037129	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	9377	57037129	2091854	941	11533											
ZNF547	284306	broad.mit.edu	37	chr19	57883219	57883219	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggcatctcgatgaggctCagagattgctgtaccgtgat	8	10	15	8	2	2	3	1	2	1	1	3	5	2	3	1	3	2	4	1	3	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:57883219C>T	ENST00000282282.3	+	3	244	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	AC003002.4_ENST00000597658.1_Nonsense_Mutation_p.Q32*	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGATGAGGCTCAGAGATTGCT	0.512													10	494					0	0	0	0	T	57883219	C	T	57883219	4	4	58	1	0	0	0	0	0	1	0	0	18074	827	29	2	100	2	ZNF547	19	57883219	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	846090	57883219	1245764	942	11534											
ZNF134	7693	broad.mit.edu	37	chr19	58132674	58132674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaccaaagagttcacactgGagaaaggccatatgagtgca	16	6	10	9	0	1	3	1	1	0	2	1	4	1	3	2	2	1	2	2	2	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:58132674G>A	ENST00000396161.5	+	3	1497	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	396						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTTCACACTGGAGAAAGGCCA	0.498													50	168					0	0	0	0	A	58132674	G	A	58132674	3	1	58	1	0	0	0	0	1	0	0	0	17819	1174	41	2	1193	2	ZNF134	19	58132674	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	249455	58132674	996309	943	11535											
ZNF551	90233	broad.mit.edu	37	chr19	58199369	58199369	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaaagtgctagcctcattCaacaccagagagttcacact	13	8	7	13	0	3	1	3	0	0	1	3	2	3	1	3	0	3	2	3	0	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:58199369C>G	ENST00000282296.5	+	3	1911	c.1726C>G	c.(1726-1728)Caa>Gaa	p.Q576E	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.Q560E	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TAGCCTCATTCAACACCAGAG	0.468													42	116					0	0	0	0	G	58199369	C	G	58199369	3	3	58	1	0	0	0	0	1	0	0	0	18078	827	29	2	1688	2	ZNF551	19	58199369	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	66695	58199369	929614	944	11536											
ZNF329	79673	broad.mit.edu	37	chr19	58639517	58639517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attacactcatagggcttctCaccagtatgagtcctctggt	9	13	8	11	0	3	1	2	1	2	0	5	1	4	1	2	2	1	2	2	2	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:58639517C>T	ENST00000598312.1	-	4	1587	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	ZNF329_ENST00000358067.4_Missense_Mutation_p.E452K	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TAGGGCTTCTCACCAGTATGA	0.502													34	87					0	0	0	0	T	58639517	C	T	58639517	3	4	58	1	0	0	0	0	1	0	0	0	17942	835	29	2	275	2	ZNF329	19	58639517	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	440148	58639517	489466	945	11537											
ZNF343	79175	broad.mit.edu	37	chr20	2464518	2464518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgaaggatgacttctcGctaaagcctcgcccacactc	10	9	8	14	2	1	3	0	3	1	0	4	4	1	4	2	1	1	1	2	1	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:2464518G>A	ENST00000278772.4	-	6	1576	c.1089C>T	c.(1087-1089)agC>agT	p.S363S	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						ATGACTTCTCGCTAAAGCCTC	0.502													14	62					0	0	0	0	A	2464518	G	A	2464518	2	1	58	1	0	0	0	0	0	0	0	1	17953	1078	38	1		1	ZNF343	20	2464518	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08		2464518	60561002	946	11538											
IDH3B	3420	broad.mit.edu	37	chr20	2640908	2640908	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagatgtggggaggcctcaCctgcatgcagcagttgtcta	9	9	14	9	0	2	1	1	0	1	1	2	3	2	2	2	3	3	4	2	3	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:2640908C>T	ENST00000380843.4	-	8	799		c.e8+1		IDH3B_ENST00000488299.1_Splice_Site|IDH3B_ENST00000380851.5_Splice_Site	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta						isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	GGAGGCCTCACCTGCATGCAG	0.517													14	48					0	0	0	0	T	2640908	C	T	2640908	5	4	58	1	0	0	0	0	0	0	1	0	7550	521	18	4	493	4	IDH3B	20	2640908	Splice_Site	SNP	C	TCGA-CN-4723-01A-01D-1434-08	176390	2640908	60384612	947	11539											
FASTKD5	60493	broad.mit.edu	37	chr20	3128246	3128246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctggactgagagcgaaatCaattaactctactggaaagt	14	9	9	9	1	2	1	1	1	1	1	2	5	2	3	1	2	3	0	1	2	5	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:3128246C>T	ENST00000380266.3	-	2	1792	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	491					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AGAGCGAAATCAATTAACTCT	0.468													41	78					0	0	0	0	T	3128246	C	T	3128246	3	4	58	1	0	0	0	0	1	0	0	0	5733	826	29	2	827	2	FASTKD5	20	3128246	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	487338	3128246	59897274	948	11540											
ATRN	8455	broad.mit.edu	37	chr20	3581669	3581669	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacctgggctgccagtttctCaggtaaagacatacctagag	11	9	10	11	0	1	2	1	0	1	2	2	2	1	2	3	2	2	3	3	2	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:3581669C>G	ENST00000262919.5	+	23	3709	c.3641C>G	c.(3640-3642)tCa>tGa	p.S1214*	ATRN_ENST00000446916.2_Nonsense_Mutation_p.S1214*	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1214					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCAGTTTCTCAGGTAAAGAC	0.423													7	126					0	0	0	0	G	3581669	C	G	3581669	4	3	58	1	0	0	0	0	0	1	0	0	1210	838	29	2	3731	2	ATRN	20	3581669	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	453423	3581669	59443851	949	11541											
LRRN4	164312	broad.mit.edu	37	chr20	6021786	6021786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccgcctgcagagacatgcgGacagcaccacggtgctggcg	8	4	14	15	4	0	1	0	0	0	1	0	3	0	2	3	3	4	3	3	3	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:6021786G>A	ENST00000378858.4	-	5	2329	c.2105C>T	c.(2104-2106)tCc>tTc	p.S702F		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	702						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GAGACATGCGGACAGCACCAC	0.687													9	16					0	0	0	0	A	6021786	G	A	6021786	3	1	58	1	0	0	0	0	1	0	0	0	9101	1174	41	2	121	2	LRRN4	20	6021786	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2440117	6021786	57003734	950	11542											
JAG1	182	broad.mit.edu	37	chr20	10653358	10653358	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagtcactcaccggccaggcGaaactgaaaggcagcacgat	13	5	11	12	3	2	1	2	1	0	0	2	3	2	1	2	3	2	2	2	3	3	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:10653358G>A	ENST00000254958.5	-	2	893	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	126					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CCGGCCAGGCGAAACTGAAAG	0.652									Alagille Syndrome				23	49					0	0	0	0	A	10653358	G	A	10653358	2	1	58	1	0	0	0	0	0	0	0	1	7987	1049	37	1		1	JAG1	20	10653358	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4631572	10653358	52372162	951	11543											
CSRP2BP	57325	broad.mit.edu	37	chr20	18162426	18162426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgcttggtaggatcagaaGatatggctgtggaccagagt	11	10	14	6	1	1	3	1	0	0	3	2	5	1	5	1	4	0	3	1	4	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:18162426G>C	ENST00000278816.2	+	8	2394	c.1744G>C	c.(1744-1746)Gat>Cat	p.D582H	CSRP2BP_ENST00000377681.2_Missense_Mutation_p.D581H|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.D582H|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.D454H			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	582					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGGATCAGAAGATATGGCTGT	0.443													57	117					0	0	0	0	C	18162426	G	C	18162426	3	2	58	1	0	0	0	0	1	0	0	0	4000	942	33	2	1770	2	CSRP2BP	20	18162426	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	7509068	18162426	44863094	952	11544											
ZHX3	23051	broad.mit.edu	37	chr20	39832032	39832032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgacagaagctccctttcaGagctgacagctgttcatgag	10	9	10	12	1	2	4	2	2	0	2	3	5	3	4	2	0	3	4	2	0	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:39832032G>C	ENST00000309060.3	-	4	1940	c.1525C>G	c.(1525-1527)Ctg>Gtg	p.L509V	ZHX3_ENST00000560361.1_Missense_Mutation_p.L509V|ZHX3_ENST00000432768.2_Missense_Mutation_p.L509V|ZHX3_ENST00000540170.1_Missense_Mutation_p.L509V|ZHX3_ENST00000559234.1_Missense_Mutation_p.L509V|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.L509V			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	509	Required for nuclear localization.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CTCCCTTTCAGAGCTGACAGC	0.527													18	77					0	0	0	0	C	39832032	G	C	39832032	3	2	58	1	0	0	0	0	1	0	0	0	17772	933	33	2	1353	2	ZHX3	20	39832032	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	21669606	39832032	23193488	953	11545											
SEMG2	6407	broad.mit.edu	37	chr20	43850534	43850534	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagtcagcaatatgatttGaatgccctacataaggcgac	16	9	8	8	1	1	2	1	2	0	0	1	3	1	2	1	1	3	1	1	1	7	4	rs147702753	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:43850534G>C	ENST00000372769.3	+	2	351	c.261G>C	c.(259-261)ttG>ttC	p.L87F		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	87	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AATATGATTTGAATGCCCTAC	0.363													35	90					0	0	0	0	C	43850534	G	C	43850534	3	2	58	1	0	0	0	0	1	0	0	0	14132	1281	45	2	267	2	SEMG2	20	43850534	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4018502	43850534	19174986	954	11546											
ZSWIM1	90204	broad.mit.edu	37	chr20	44512005	44512005	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agccactacttccagagcctCgaggtcaccacccacatcct	10	7	6	18	1	1	1	1	0	0	1	4	2	3	1	6	1	3	0	6	1	1	2	rs116789871	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:44512005C>G	ENST00000372523.1	+	2	869	c.774C>G	c.(772-774)ctC>ctG	p.L258L	ZSWIM1_ENST00000372520.1_Silent_p.L258L	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	258							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				TCCAGAGCCTCGAGGTCACCA	0.572													3	149					0	0	0	0	G	44512005	C	G	44512005	2	3	58	1	0	0	0	0	0	0	0	1	18331	871	31	3		3	ZSWIM1	20	44512005	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	661471	44512005	18513515	955	11547											
KCNB1	3745	broad.mit.edu	37	chr20	47990509	47990509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catcttattgtacatgtcttCcaactgctgaacgttcaggt	9	15	7	10	1	3	1	1	1	2	0	4	1	4	1	1	1	4	3	1	1	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:47990509C>T	ENST00000371741.4	-	2	1754	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	530					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TACATGTCTTCCAACTGCTGA	0.468													98	295					0	0	0	0	T	47990509	C	T	47990509	3	4	58	1	0	0	0	0	1	0	0	0	8065	864	30	2	992	2	KCNB1	20	47990509	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3478504	47990509	15035011	956	11548											
B4GALT5	9334	broad.mit.edu	37	chr20	48330154	48330154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaagtacagcagcgaggacGagagagaaaagaagaagagc	19	1	15	6	3	0	5	0	0	0	5	0	10	0	6	0	1	4	2	0	1	6	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:48330154G>A	ENST00000371711.4	-	1	261	c.74C>T	c.(73-75)tCg>tTg	p.S25L		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	25					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CAGCGAGGACGAGAGAGAAAA	0.706													3	5					0	0	0	0	A	48330154	G	A	48330154	3	1	58	1	0	0	0	0	1	0	0	0	1278	1059	37	1	1128	1	B4GALT5	20	48330154	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	339645	48330154	14695366	957	11549											
DPM1	8813	broad.mit.edu	37	chr20	49552791	49552791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttctctagaacttcttttCggtataatctgtaagaaatt	12	18	5	6	1	3	2	0	0	3	2	5	2	3	2	0	1	1	2	0	1	6	9			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:49552791C>T	ENST00000371582.4	-	9	684	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	DPM1_ENST00000371588.5_Missense_Mutation_p.R191Q|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371583.5_Missense_Mutation_p.R186Q|DPM1_ENST00000466152.1_5'UTR			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	191					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AACTTCTTTTCGGTATAATCT	0.318													21	54					0	0	0	0	T	49552791	C	T	49552791	3	4	58	1	0	0	0	0	1	0	0	0	4760	884	31	1	218	1	DPM1	20	49552791	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1222637	49552791	13472729	958	11550											
SLC17A9	63910	broad.mit.edu	37	chr20	61594629	61594629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgttgctccctcagatctCatcctggccttgggtgtcct	4	13	9	15	1	2	1	2	0	1	1	6	1	5	1	5	2	1	2	5	2	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:61594629C>T	ENST00000370349.3	+	7	819	c.615C>T	c.(613-615)ctC>ctT	p.L205L	SLC17A9_ENST00000370351.4_Silent_p.L211L|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	211					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCAGATCTCATCCTGGCCT	0.622													7	45					0	0	0	0	T	61594629	C	T	61594629	2	4	58	1	0	0	0	0	0	0	0	1	14512	813	29	2		2	SLC17A9	20	61594629	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	12041838	61594629	1430891	959	11551											
GMEB2	26205	broad.mit.edu	37	chr20	62234366	62234366	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaaacttcctccagatGaggttggctctgctgtctcc	8	11	8	14	0	2	2	0	1	2	1	5	2	4	2	3	2	2	3	3	2	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:62234366G>T	ENST00000266068.1	-	3	787	c.309C>A	c.(307-309)ctC>ctA	p.L103L	GMEB2_ENST00000370069.1_Silent_p.L52L|GMEB2_ENST00000370077.1_Silent_p.L103L			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	103	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TCCTCCAGATGAGGTTGGCTC	0.537													7	212					0.00198382	0.00202159	1	0	T	62234366	G	T	62234366	2	4	58	1	0	0	0	0	0	0	0	1	6539	1277	45	2		2	GMEB2	20	62234366	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	639737	62234366	791154	960	11552											
UCKL1	54963	broad.mit.edu	37	chr20	62587639	62587639	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgcacgcggtctcgcttttCtcagcctgccggcctggtgt	2	12	12	15	5	2	0	1	0	2	0	5	0	2	0	3	3	2	2	3	3	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:62587639C>G	ENST00000358711.3	-	1	130	c.87G>C	c.(85-87)gaG>gaC	p.E29D	UCKL1_ENST00000354216.6_Missense_Mutation_p.E29D|UCKL1_ENST00000369892.3_Missense_Mutation_p.E29D			Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	29					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCTCGCTTTTCTCAGCCTGCC	0.741													4	17					0	0	0	0	G	62587639	C	G	62587639	3	3	58	1	0	0	0	0	1	0	0	0	17021	912	32	2	1619	2	UCKL1	20	62587639	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	353273	62587639	437881	961	11553											
APP	351	broad.mit.edu	37	chr21	27284272	27284272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctctttctgaagcagctCatctaaaccaaacaaaacca	15	10	4	12	0	4	1	1	1	3	0	4	1	4	1	2	0	6	3	2	0	6	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:27284272C>T	ENST00000358918.3	-	14	1889	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	APP_ENST00000346798.3_Missense_Mutation_p.E564K|APP_ENST00000448388.2_Missense_Mutation_p.E454K|APP_ENST00000357903.3_Missense_Mutation_p.E545K|APP_ENST00000354192.3_Missense_Mutation_p.E433K|APP_ENST00000348990.5_Missense_Mutation_p.E489K|APP_ENST00000440126.3_Missense_Mutation_p.E540K|APP_ENST00000439274.2_Missense_Mutation_p.E508K|APP_ENST00000359726.3_Missense_Mutation_p.E508K	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	564					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGAAGCAGCTCATCTAAACCA	0.438													16	56					0	0	0	0	T	27284272	C	T	27284272	3	4	58	1	0	0	0	0	1	0	0	0	817	835	29	2	642	2	APP	21	27284272	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08		27284272	20845623	962	11554											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338537	28338537	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagggggtgcgggtggccGggaggctcggctcgctcctg	2	6	21	12	4	0	0	0	0	0	0	3	1	1	1	3	7	1	3	3	7	0	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:28338537G>A	ENST00000284987.5	-	1	295	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	58					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCGGGTGGCCGGGAGGCTCGG	0.726													6	39					0	0	0	0	A	28338537	G	A	28338537	2	1	58	1	0	0	0	0	0	0	0	1	269	1103	39	1		1	ADAMTS5	21	28338537	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1054265	28338537	19791358	963	11555											
TIAM1	7074	broad.mit.edu	37	chr21	32503217	32503217	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgtcttacaagtttcttCttctgtttggaaccatcttt	8	19	6	8	0	5	1	0	0	5	1	5	2	5	2	1	1	2	2	1	1	3	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:32503217C>G	ENST00000286827.3	-	25	4404	c.3933G>C	c.(3931-3933)aaG>aaC	p.K1311N	TIAM1_ENST00000541036.1_Missense_Mutation_p.K1251N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1311	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAAGTTTCTTCTTCTGTTTGG	0.348													18	66					0	0	0	0	G	32503217	C	G	32503217	3	3	58	1	0	0	0	0	1	0	0	0	15984	912	32	2	862	2	TIAM1	21	32503217	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4164680	32503217	15626678	964	11556											
MRAP	56246	broad.mit.edu	37	chr21	33671366	33671366	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacctcattcccgtggacgaGaagaagctgaaagcccacaa	14	5	10	12	2	1	3	1	1	0	2	2	6	2	4	3	1	2	1	3	1	4	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:33671366G>A	ENST00000399784.2	+	3	271	c.84G>A	c.(82-84)gaG>gaA	p.E28E	MRAP_ENST00000399786.3_Silent_p.E28E|MRAP_ENST00000339944.4_Silent_p.E28E|MRAP_ENST00000303645.5_Silent_p.E28E|MRAP_ENST00000497833.1_Intron	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	28					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						CCGTGGACGAGAAGAAGCTGA	0.577													16	26					0	0	0	0	A	33671366	G	A	33671366	2	1	58	1	0	0	0	0	0	0	0	1	9823	933	33	2		2	MRAP	21	33671366	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1168149	33671366	14458529	965	11557											
CLIC6	54102	broad.mit.edu	37	chr21	36079593	36079593	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaggctggttatgatggtGagagtatcggaaattgcccg	9	12	15	5	2	0	2	0	2	0	1	1	4	0	3	1	4	1	4	1	4	4	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:36079593G>C	ENST00000360731.3	+	3	1444	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	CLIC6_ENST00000349499.2_Missense_Mutation_p.E464Q			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	482						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TTATGATGGTGAGAGTATCGG	0.423													20	78					0	0	0	0	C	36079593	G	C	36079593	3	2	58	1	0	0	0	0	1	0	0	0	3560	1291	45	2	1396	2	CLIC6	21	36079593	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2408227	36079593	12050302	966	11558											
DYRK1A	1859	broad.mit.edu	37	chr21	38884327	38884327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcatgtagcccctcaacaGaatgcattgcatcatcacca	12	11	5	13	0	4	1	4	0	0	1	4	1	4	1	3	0	4	3	3	0	3	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:38884327G>C	ENST00000339659.3	+	11	3228	c.1758G>C	c.(1756-1758)caG>caC	p.Q586H	DYRK1A_ENST00000455387.2_Missense_Mutation_p.Q367H|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.Q595H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	595					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCCCTCAACAGAATGCATTGC	0.502													22	59					0	0	0	0	C	38884327	G	C	38884327	3	2	58	1	0	0	0	0	1	0	0	0	4890	933	33	2	1911	2	DYRK1A	21	38884327	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2804734	38884327	9245568	967	11559											
KCNJ15	3772	broad.mit.edu	37	chr21	39672179	39672179	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatttcagtcagtttgaacaGattcggaaaagcccagattg	13	11	10	7	1	2	3	2	1	0	2	3	5	2	4	1	1	2	1	1	1	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:39672179G>C	ENST00000398930.1	+	4	1350	c.996G>C	c.(994-996)caG>caC	p.Q332H	KCNJ15_ENST00000398932.1_Missense_Mutation_p.Q332H|KCNJ15_ENST00000398938.2_Missense_Mutation_p.Q332H|KCNJ15_ENST00000398934.1_Missense_Mutation_p.Q332H|KCNJ15_ENST00000328656.3_Missense_Mutation_p.Q332H			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	332					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						AGTTTGAACAGATTCGGAAAA	0.433													31	105					0	0	0	0	C	39672179	G	C	39672179	3	2	58	1	0	0	0	0	1	0	0	0	8102	933	33	2	998	2	KCNJ15	21	39672179	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	787852	39672179	8457716	968	11560											
ETS2	2114	broad.mit.edu	37	chr21	40191474	40191474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaacggtgcggacagcttcGagagctcagactccctcctc	9	7	11	14	3	1	3	1	0	0	3	5	5	3	4	2	2	4	2	2	2	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:40191474G>A	ENST00000360214.3	+	9	1319	c.859G>A	c.(859-861)Gag>Aag	p.E287K	ETS2_ENST00000360938.3_Missense_Mutation_p.E287K	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	287					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GGACAGCTTCGAGAGCTCAGA	0.552													16	54					0	0	0	0	A	40191474	G	A	40191474	3	1	58	1	0	0	0	0	1	0	0	0	5314	1059	37	1	885	1	ETS2	21	40191474	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	519295	40191474	7938421	969	11561											
BRWD1	54014	broad.mit.edu	37	chr21	40574319	40574319	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatgattctgctgaatctGaagagtcaccagaagtaaca	14	10	9	8	0	3	6	1	4	2	2	3	6	3	6	1	0	2	2	1	0	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:40574319G>C	ENST00000342449.3	-	38	4595	c.4517C>G	c.(4516-4518)tCa>tGa	p.S1506*	BRWD1_ENST00000333229.2_Nonsense_Mutation_p.S1506*|BRWD1_ENST00000380800.3_Nonsense_Mutation_p.S1506*	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGCTGAATCTGAAGAGTCACC	0.403													31	85					0	0	0	0	C	40574319	G	C	40574319	4	2	58	1	0	0	0	0	0	1	0	0	1533	1294	45	2	2704	2	BRWD1	21	40574319	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	382845	40574319	7555576	970	11562											
IGSF5	150084	broad.mit.edu	37	chr21	41165472	41165472	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttgcagacaccgcttctCtccctcccaaatcctgtgaa	8	11	6	16	1	1	2	0	1	1	1	5	2	4	2	4	0	1	3	4	0	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:41165472C>G	ENST00000380588.4	+	8	1163	c.1060C>G	c.(1060-1062)Ctc>Gtc	p.L354V		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	354						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CACCGCTTCTCTCCCTCCCAA	0.423													31	99					0	0	0	0	G	41165472	C	G	41165472	3	3	58	1	0	0	0	0	1	0	0	0	7655	913	32	2	1090	2	IGSF5	21	41165472	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	591153	41165472	6964423	971	11563											
SIK1	150094	broad.mit.edu	37	chr21	44841567	44841567	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaggaggttctcggtcttGaggtcccggtggacgatgtg	6	10	17	8	3	2	1	0	1	2	0	4	4	3	3	1	6	1	2	1	6	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:44841567G>C	ENST00000270162.6	-	5	582	c.450C>G	c.(448-450)ctC>ctG	p.L150L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	150	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TCTCGGTCTTGAGGTCCCGGT	0.617													12	51					0	0	0	0	C	44841567	G	C	44841567	2	2	58	1	0	0	0	0	0	0	0	1	14405	1277	45	2		2	SIK1	21	44841567	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	3676095	44841567	3288328	972	11564											
RRP1B	23076	broad.mit.edu	37	chr21	45107740	45107740	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagtgttgcccccagaGgacatgtctcagagtggccc	8	8	12	13	0	2	2	2	0	1	2	3	3	2	3	3	2	2	2	3	2	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45107740G>A	ENST00000340648.4	+	13	1602	c.1485G>A	c.(1483-1485)gaG>gaA	p.E495E		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	495					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TGCCCCCAGAGGACATGTCTC	0.577													24	98					0	0	0	0	A	45107740	G	A	45107740	2	1	58	1	0	0	0	0	0	0	0	1	13773	991	35	4		4	RRP1B	21	45107740	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	266173	45107740	3022155	973	11565											
C21orf33	8209	broad.mit.edu	37	chr21	45554008	45554008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctggatgcggagtctacGatgggaccgagatccacgag	9	8	15	9	4	2	1	0	0	2	1	3	7	3	4	2	3	2	0	2	3	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45554008G>A	ENST00000291577.6	+	2	259	c.166G>A	c.(166-168)Gat>Aat	p.D56N	C21orf33_ENST00000493883.1_Intron|C21orf33_ENST00000427803.2_Missense_Mutation_p.D56N|C21orf33_ENST00000348499.5_Missense_Mutation_p.D56N	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	56						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CGGAGTCTACGATGGGACCGA	0.672													7	29					0	0	0	0	A	45554008	G	A	45554008	3	1	58	1	0	0	0	0	1	0	0	0	2145	1058	37	1	172	1	C21orf33	21	45554008	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	446268	45554008	2575887	974	11566											
TRPM2	7226	broad.mit.edu	37	chr21	45826645	45826645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagatcccgggctacatcGacggtaggagccgggcgcca	8	4	16	13	5	0	1	0	0	0	1	2	3	1	2	3	5	2	3	3	5	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45826645G>T	ENST00000397928.1	+	19	3404	c.2959G>T	c.(2959-2961)Gac>Tac	p.D987Y	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.D987Y|TRPM2_ENST00000300482.5_Missense_Mutation_p.D987Y|TRPM2_ENST00000300481.9_Missense_Mutation_p.D967Y	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	987						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGCTACATCGACGGTAGGAG	0.667													6	12					0.00116845	0.00119168	1	0	T	45826645	G	T	45826645	3	4	58	1	0	0	0	0	1	0	0	0	16681	1058	37	3	3033	3	TRPM2	21	45826645	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	272637	45826645	2303250	975	11567											
TRPM2	7226	broad.mit.edu	37	chr21	45838391	45838391	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacctccagaaccgacagttCcagcaaaagcagcggcccga	13	4	9	15	3	0	1	0	0	0	1	2	3	2	1	5	1	5	3	5	1	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45838391C>T	ENST00000397928.1	+	22	3859	c.3414C>T	c.(3412-3414)ttC>ttT	p.F1138F	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.F1138F|TRPM2_ENST00000300482.5_Silent_p.F1138F|TRPM2_ENST00000300481.9_Silent_p.F1118F	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1138						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACCGACAGTTCCAGCAAAAGC	0.612													37	140					0	0	0	0	T	45838391	C	T	45838391	2	4	58	1	0	0	0	0	0	0	0	1	16681	854	30	2		2	TRPM2	21	45838391	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	11746	45838391	2291504	976	11568											
IL17RA	23765	broad.mit.edu	37	chr22	17583169	17583169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagaaccacagttgctttGagcacatgcaccacatacct	12	9	8	12	0	0	2	0	1	0	1	0	3	0	2	3	1	5	4	3	1	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:17583169G>C	ENST00000319363.6	+	7	872	c.739G>C	c.(739-741)Gag>Cag	p.E247Q		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	247					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CAGTTGCTTTGAGCACATGCA	0.547													56	145					0	0	0	0	C	17583169	G	C	17583169	3	2	58	1	0	0	0	0	1	0	0	0	7692	1291	45	2	765	2	IL17RA	22	17583169	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08		17583169	33721397	977	11569											
CECR6	27439	broad.mit.edu	37	chr22	17601079	17601079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataagccaggccaggtaggcGaaggcgaactcgcccgctgc	10	4	14	13	4	0	0	0	0	0	0	1	2	0	0	3	4	3	2	3	4	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:17601079G>A	ENST00000331437.3	-	1	1064	c.939C>T	c.(937-939)ttC>ttT	p.F313F	CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	313	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CCAGGTAGGCGAAGGCGAACT	0.736													24	64					0	0	0	0	A	17601079	G	A	17601079	2	1	58	1	0	0	0	0	0	0	0	1	3237	1049	37	1		1	CECR6	22	17601079	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	17910	17601079	33703487	978	11570											
HSCB	150274	broad.mit.edu	37	chr22	29141879	29141879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatggaatagagattcctGaaaggacagattatgaaatg	16	10	10	5	0	0	4	0	2	0	2	2	7	2	6	2	2	0	0	2	2	5	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:29141879G>A	ENST00000216027.3	+	4	516	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	HSCB_ENST00000495977.1_3'UTR|HSCB_ENST00000398941.2_Intron	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	151					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						AGAGATTCCTGAAAGGACAGA	0.378													32	100					0	0	0	0	A	29141879	G	A	29141879	3	1	58	1	0	0	0	0	1	0	0	0	7424	1291	45	2	465	2	HSCB	22	29141879	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	11540800	29141879	22162687	979	11571											
DUSP18	150290	broad.mit.edu	37	chr22	31059444	31059444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtggaatcatcaaacGgacttccttctcatagatgt	12	12	7	10	1	4	1	4	0	1	1	6	3	5	3	1	2	1	0	1	2	3	3	rs142285924	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:31059444G>A	ENST00000334679.3	-	2	1052	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	DUSP18_ENST00000403268.1_3'UTR|DUSP18_ENST00000404885.1_Missense_Mutation_p.R183C|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.R183C	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	183						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.R183C(1)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ATCATCAAACGGACTTCCTTC	0.468													16	79					0	0	0	0	A	31059444	G	A	31059444	3	1	58	1	0	0	0	0	1	0	0	0	4853	1116	39	1	23	1	DUSP18	22	31059444	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1917565	31059444	20245122	980	11572											
OSBP2	23762	broad.mit.edu	37	chr22	31091253	31091253	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtaggggctgggcccttCactaaggccgcatcggagcc	6	7	16	12	2	1	0	1	0	0	0	2	1	1	1	3	6	1	3	3	6	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:31091253C>T	ENST00000332585.6	+	1	461	c.357C>T	c.(355-357)ttC>ttT	p.F119F	OSBP2_ENST00000382310.3_Silent_p.F119F|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000446658.2_Silent_p.F119F|OSBP2_ENST00000403222.3_Intron	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	119					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CTGGGCCCTTCACTAAGGCCG	0.682													22	55					0	0	0	0	T	31091253	C	T	31091253	2	4	58	1	0	0	0	0	0	0	0	1	11345	825	29	2		2	OSBP2	22	31091253	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	31809	31091253	20213313	981	11573											
PIK3IP1	113791	broad.mit.edu	37	chr22	31685563	31685563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatcactggctgcacagctgCcgcctcactccgagcgggca	8	6	11	16	3	2	0	2	0	0	0	3	1	3	0	3	2	4	4	3	2	1	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:31685563C>A	ENST00000215912.5	-	4	613	c.430G>T	c.(430-432)Gca>Tca	p.A144S	PIK3IP1_ENST00000487265.2_Missense_Mutation_p.A65S|PIK3IP1_ENST00000441972.1_Missense_Mutation_p.A144S|PIK3IP1_ENST00000402249.3_Missense_Mutation_p.A144S	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	144						integral to membrane				large_intestine(2)|lung(1)|ovary(1)	4						TGCACAGCTGCCGCCTCACTC	0.617													4	6					0.000602214	0.000615208	1	0	A	31685563	C	A	31685563	3	1	58	1	0	0	0	0	1	0	0	0	11989	739	26	4	373	4	PIK3IP1	22	31685563	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	594310	31685563	19619003	982	11574											
SFI1	9814	broad.mit.edu	37	chr22	32014301	32014301	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctccatggccccaggTggaaatgcagatccagctgc	8	8	11	14	0	0	1	0	0	0	1	3	2	3	2	5	3	3	2	5	3	1	0	rs111513493		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:32014301T>A	ENST00000432498.1	+	32	3926	c.3531_splice	c.e32-1	p.V1178_splice	SFI1_ENST00000443011.1_Splice_Site_p.V1056_splice|SFI1_ENST00000443326.1_Splice_Site_p.V1127_splice|SFI1_ENST00000414585.1_3'UTR|SFI1_ENST00000400289.1_Splice_Site_p.V1127_splice|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000540643.1_Splice_Site_p.V1154_splice|SFI1_ENST00000400288.2_Splice_Site_p.V1209_splice	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1209					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						TGGCCCCAGGTGGAAATGCAG	0.701													10	26					0	0	0	0	A	32014301	T	A	32014301	5	1	58	1	0	0	0	0	0	0	1	0	14243	1710	59	5	3752	5	SFI1	22	32014301	Splice_Site	SNP	T	TCGA-CN-4723-01A-01D-1434-08	328738	32014301	19290265	983	11575											
MCM5	4174	broad.mit.edu	37	chr22	35817335	35817335	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggaggccattgtgcgcatCgcggaagccctcagcaagat	9	7	13	12	3	1	1	1	0	0	1	2	3	1	3	2	3	3	2	2	3	2	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:35817335C>T	ENST00000216122.4	+	15	2011	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	MCM5_ENST00000382011.5_Silent_p.I576I	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	619					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTGTGCGCATCGCGGAAGCCC	0.637													30	73					0	0	0	0	T	35817335	C	T	35817335	2	4	58	1	0	0	0	0	0	0	0	1	9459	874	31	1		1	MCM5	22	35817335	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3803034	35817335	15487231	984	11576											
MYH9	4627	broad.mit.edu	37	chr22	36708220	36708220	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcttgtcggtggctttgggGaaccagcactcctcgtccag	5	11	12	13	2	1	0	0	0	1	0	5	1	3	1	3	4	2	2	3	4	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:36708220G>A	ENST00000216181.5	-	14	1832	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	534	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGCTTTGGGGAACCAGCACT	0.632			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				36	111					0	0	0	0	A	36708220	G	A	36708220	2	1	58	1	0	0	0	0	0	0	0	1	10112	1165	41	2		2	MYH9	22	36708220	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	890885	36708220	14596346	985	11577											
SSTR3	6753	broad.mit.edu	37	chr22	37603432	37603432	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaggtagcggtccacgctCatgacagtcaggcagaatat	11	7	12	11	2	2	2	2	1	0	1	3	2	3	2	2	3	1	3	2	3	3	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:37603432C>G	ENST00000328544.3	-	2	944	c.411G>C	c.(409-411)atG>atC	p.M137I	SSTR3_ENST00000402501.1_Missense_Mutation_p.M137I	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	137					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GGTCCACGCTCATGACAGTCA	0.667													34	94					0	0	0	0	G	37603432	C	G	37603432	3	3	58	1	0	0	0	0	1	0	0	0	15289	826	29	2	849	2	SSTR3	22	37603432	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	895212	37603432	13701134	986	11578											
CARD10	29775	broad.mit.edu	37	chr22	37888526	37888526	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggctccaggcgctgaGgatgggcacagttcctcccc	5	8	15	13	1	0	1	0	1	0	0	3	2	3	2	4	5	0	4	4	5	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:37888526G>A	ENST00000403299.1	-	19	2883	c.2667C>T	c.(2665-2667)tcC>tcT	p.S889S	CARD10_ENST00000406271.3_Silent_p.S603S|CARD10_ENST00000251973.5_Silent_p.S889S			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	889					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CAGGCGCTGAGGATGGGCACA	0.667													21	49					0	0	0	0	A	37888526	G	A	37888526	2	1	58	1	0	0	0	0	0	0	0	1	2669	987	35	4		4	CARD10	22	37888526	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	285094	37888526	13416040	987	11579											
CSNK1E	1454	broad.mit.edu	37	chr22	38696025	38696025	+	Missense_Mutation	SNP	A	A	T																															gggagcccaggttgaagtacAtgagcacgtagcccaggctc																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:38696025A>T	ENST00000396832.1	-	6	871	c.611T>A	c.(610-612)aTg>aAg	p.M204K	CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000405675.3_Missense_Mutation_p.M204K|CSNK1E_ENST00000403904.1_Missense_Mutation_p.M204K|CSNK1E_ENST00000400206.2_Missense_Mutation_p.M204K|CSNK1E_ENST00000413574.2_Missense_Mutation_p.M204K|CSNK1E_ENST00000359867.3_Missense_Mutation_p.M204K	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	204	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GTTGAAGTACATGAGCACGTA	0.582													29	89					0	0	0	0	T	38696025	A	T	38696025	3	4	58	1	0	0	0	0	1	0	0	0	3985	217	8	5	659	5	CSNK1E	22	38696025	Missense_Mutation	SNP	A	TCGA-CN-4723-01A-01D-1434-08	807499	38696025	12608541	988	11580	99	2									
CSNK1E	1454	broad.mit.edu	37	chr22	38696026	38696026	+	Missense_Mutation	SNP	T	T	G																															ggagcccaggttgaagtacaTgagcacgtagcccaggctct																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:38696026T>G	ENST00000396832.1	-	6	870	c.610A>C	c.(610-612)Atg>Ctg	p.M204L	CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000405675.3_Missense_Mutation_p.M204L|CSNK1E_ENST00000403904.1_Missense_Mutation_p.M204L|CSNK1E_ENST00000400206.2_Missense_Mutation_p.M204L|CSNK1E_ENST00000413574.2_Missense_Mutation_p.M204L|CSNK1E_ENST00000359867.3_Missense_Mutation_p.M204L	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	204	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					TTGAAGTACATGAGCACGTAG	0.577													27	87					0	0	0	0	G	38696026	T	G	38696026	3	3	58	1	0	0	0	0	1	0	0	0	3985	1464	51	5	660	5	CSNK1E	22	38696026	Missense_Mutation	SNP	T	TCGA-CN-4723-01A-01D-1434-08	1	38696026	12608540	989	11581	99	2									
CACNA1I	8911	broad.mit.edu	37	chr22	40060842	40060842	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttcgtgtccatcatcgacatCgtggtgtccctggcctcagc	5	12	10	14	3	2	0	2	0	0	0	7	1	4	0	3	2	1	0	3	2	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:40060842C>G	ENST00000336649.4	+	24	3783	c.3783C>G	c.(3781-3783)atC>atG	p.I1261M	CACNA1I_ENST00000401624.1_Missense_Mutation_p.I1255M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.I1220M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I1220M|CACNA1I_ENST00000402142.3_Missense_Mutation_p.I1255M|CACNA1I_ENST00000400164.3_Missense_Mutation_p.I1220M			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1255					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCATCGACATCGTGGTGTCCC	0.642													11	61					0	0	0	0	G	40060842	C	G	40060842	3	3	58	1	0	0	0	0	1	0	0	0	2571	874	31	3	3847	3	CACNA1I	22	40060842	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1364816	40060842	11243724	990	11582											
ST13	6767	broad.mit.edu	37	chr22	41226906	41226906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctattctttctttgatctCtcgctcttcacgttttcgct	3	22	4	12	3	6	1	1	1	5	0	9	1	6	1	0	0	0	3	0	0	1	8	rs148186652	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:41226906C>T	ENST00000216218.3	-	9	1217	c.736G>A	c.(736-738)Gag>Aag	p.E246K		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	246							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TCTTTGATCTCTCGCTCTTCA	0.413													32	130					0	0	0	0	T	41226906	C	T	41226906	3	4	58	1	0	0	0	0	1	0	0	0	15300	922	32	2	389	2	ST13	22	41226906	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1166064	41226906	10077660	991	11583											
PACSIN2	11252	broad.mit.edu	37	chr22	43287098	43287098	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtcatcgttcatcagtGaggccttcacctcgaggtgc	8	10	11	12	3	4	1	4	1	0	0	6	3	4	1	2	2	1	1	2	2	1	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:43287098G>T	ENST00000263246.3	-	4	509	c.308C>A	c.(307-309)tCa>tAa	p.S103*	PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000337959.4_Nonsense_Mutation_p.S103*|PACSIN2_ENST00000402229.1_Nonsense_Mutation_p.S103*|PACSIN2_ENST00000403744.3_Nonsense_Mutation_p.S103*|PACSIN2_ENST00000407585.1_Nonsense_Mutation_p.S103*	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	103					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GTTCATCAGTGAGGCCTTCAC	0.582													20	83					1.64113e-05	1.68775e-05	1	0	T	43287098	G	T	43287098	4	4	58	1	0	0	0	0	0	1	0	0	11446	1294	45	2	1184	2	PACSIN2	22	43287098	Nonsense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2060192	43287098	8017468	992	11584											
PLXNB2	23654	broad.mit.edu	37	chr22	50718104	50718104	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagcagccccgtgtcgttGagagtgtacttggccttctt	5	12	11	13	2	1	1	0	1	1	1	2	2	1	1	4	1	3	3	4	1	1	5	rs149176335	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:50718104G>C	ENST00000449103.1	-	27	4484	c.4344C>G	c.(4342-4344)ctC>ctG	p.L1448L	PLXNB2_ENST00000359337.4_Silent_p.L1448L			O15031	PLXB2_HUMAN	plexin B2	1448					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTGTCGTTGAGAGTGTACT	0.617													4	276					0	0	0	0	C	50718104	G	C	50718104	2	2	58	1	0	0	0	0	0	0	0	1	12196	1277	45	2		2	PLXNB2	22	50718104	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	7431006	50718104	586462	993	11585											
SLC25A6	293	broad.mit.edu	37	chrX	1508132	1508132	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgcgatggcagccacacgtAcccttggccgtatcgtacac	8	8	10	15	5	0	0	0	0	0	0	2	1	0	0	3	2	3	4	3	2	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:1508132A>G	ENST00000381401.5	-	2	1313		c.e2+1		SLC25A6_ENST00000475167.1_Splice_Site	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6						active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	agccACACGTACCCTTGGCCG	0.632													9	108					0	0	0	0	G	1508132	A	G	1508132	5	3	58	1	0	0	0	0	0	0	1	0	14601	405	14	5	308	5	SLC25A6	23	1508132	Splice_Site	SNP	A	TCGA-CN-4723-01A-01D-1434-08		1508132	153762428	994	11586											
NLGN4X	57502	broad.mit.edu	37	chrX	6069472	6069472	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcagaccggggtgaacaaCaaaggaagccatagcagtcc	15	3	12	11	2	0	2	0	1	0	1	1	3	1	3	3	3	4	2	3	3	5	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:6069472C>T	ENST00000381095.3	-	2	663	c.36G>A	c.(34-36)ttG>ttA	p.L12L	NLGN4X_ENST00000538097.1_Silent_p.L12L|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Silent_p.L12L|NLGN4X_ENST00000381092.1_Silent_p.L12L|NLGN4X_ENST00000381093.2_Silent_p.L12L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	12					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGGTGAACAACAAAGGAAGCC	0.522													19	26					0	0	0	0	T	6069472	C	T	6069472	2	4	58	1	0	0	0	0	0	0	0	1	10534	477	17	4		4	NLGN4X	23	6069472	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	4561340	6069472	149201088	995	11587											
SHROOM2	357	broad.mit.edu	37	chrX	9900879	9900879	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agaaactgacggacaaacctCccctgctcatccaggatgag	13	6	9	13	1	1	3	1	2	0	1	3	5	3	5	4	2	3	1	4	2	2	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:9900879C>G	ENST00000380913.3	+	6	3646	c.3556C>G	c.(3556-3558)Ccc>Gcc	p.P1186A	SHROOM2_ENST00000418909.2_Missense_Mutation_p.P21A|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1186					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGACAAACCTCCCCTGCTCAT	0.637													18	15					0	0	0	0	G	9900879	C	G	9900879	3	3	58	1	0	0	0	0	1	0	0	0	14382	855	30	2	3578	2	SHROOM2	23	9900879	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3831407	9900879	145369681	996	11588											
MAP3K15	389840	broad.mit.edu	37	chrX	19380883	19380883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaattttaactgaaggtGatacaattcttgagttttct	11	20	6	4	0	2	3	0	3	2	0	2	3	2	3	0	1	2	1	0	1	5	9			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:19380883G>T	ENST00000338883.4	-	26	3651	c.3652C>A	c.(3652-3654)Cac>Aac	p.H1218N	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.H653N|MAP3K15_ENST00000469203.2_Missense_Mutation_p.H1050N	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1218							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AACTGAAGGTGATACAATTCT	0.323													8	150					0.307466	0.30973	1	0	T	19380883	G	T	19380883	3	4	58	1	0	0	0	0	1	0	0	0	9318	1290	45	2	305	2	MAP3K15	23	19380883	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	9480004	19380883	135889677	997	11589											
DCAF8L1	139425	broad.mit.edu	37	chrX	27999220	27999220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgctttcaagttcgacgtCttcacttgaactttctgagt	8	16	7	10	2	4	2	2	2	2	0	5	3	4	2	0	0	2	2	0	0	2	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:27999220C>G	ENST00000441525.1	-	1	346	c.232G>C	c.(232-234)Gac>Cac	p.D78H		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	78	Glu-rich.									NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGTTCGACGTCTTCACTTGAA	0.488													46	62					0	0	0	0	G	27999220	C	G	27999220	3	3	58	1	0	0	0	0	1	0	0	0	4310	913	32	2	1574	2	DCAF8L1	23	27999220	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	8618337	27999220	127271340	998	11590											
CXorf21	80231	broad.mit.edu	37	chrX	30578276	30578276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctcttgaatgcactgaaGagataaacttgccagatgat	13	12	8	8	0	2	5	0	3	2	2	3	6	2	5	1	0	3	1	1	0	4	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:30578276G>C	ENST00000378962.3	-	3	519	c.197C>G	c.(196-198)tCt>tGt	p.S66C		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	66										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ATGCACTGAAGAGATAAACTT	0.458													110	98					0	0	0	0	C	30578276	G	C	30578276	3	2	58	1	0	0	0	0	1	0	0	0	4133	942	33	2	712	2	CXorf21	23	30578276	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2579056	30578276	124692284	999	11591											
CXorf22	170063	broad.mit.edu	37	chrX	35974208	35974208	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgttcagaaattcagtgcatCataaaaaatcaatgcgaatt	17	11	6	7	2	4	1	4	0	0	1	4	2	4	1	0	0	2	2	0	0	6	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:35974208C>G	ENST00000297866.5	+	8	1371	c.1305C>G	c.(1303-1305)atC>atG	p.I435M		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	435										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTCAGTGCATCATAAAAAATC	0.378													44	34					0	0	0	0	G	35974208	C	G	35974208	3	3	58	1	0	0	0	0	1	0	0	0	4134	816	29	2	1335	2	CXorf22	23	35974208	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	5395932	35974208	119296352	1000	11592											
DDX3X	1654	broad.mit.edu	37	chrX	41196718	41196719	+	Splice_Site	INS	-	-	G																															tggaggaagtacagccagcaINSgtaagtacaacatcttgtgg																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:41196718_41196719insG	ENST00000399959.2	+	2	958	c.103_splice	c.e2+1	p.K35_splice	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Splice_Site_p.V35_splice|DDX3X_ENST00000441189.2_Splice_Site_p.K35_splice|DDX3X_ENST00000542215.1_Splice_Site_p.K79_splice	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	35					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TACAGCCAGCAGTAAGTACAAC	0.371										HNSCC(61;0.18)			35	49	---	---	---	---					G	41196719	-	G	41196718	8	5	58	1	0	1	1	0	0	0	1	0	4390	202	7	0	109	0	DDX3X	23	41196718	Splice_Site	INS	-	TCGA-CN-4723-01A-01D-1434-08	5222510	41196718	114073842	1001	11593											
DGKK	139189	broad.mit.edu	37	chrX	50167295	50167295	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccttgaaccagaaaatatCtaagcttccatctcttgaaa	14	12	5	10	0	2	3	0	2	2	1	5	3	4	3	3	0	2	1	3	0	6	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:50167295C>G	ENST00000376025.2	-	0	766							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAGAAAATATCTAAGCTTCCA	0.403													12	26					0	0	0	0	G	50167295	C	G	50167295	1	3	58	0	1	0	0	0	0	0	0	0	4509	913	32	2		2	DGKK	23	50167295	RNA	SNP	C	TCGA-CN-4723-01A-01D-1434-08	8970577	50167295	105103265	1002	11594											
WNK3	65267	broad.mit.edu	37	chrX	54324818	54324818	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatggtttaataggtccctGatagacaacctaataaacaa	16	10	7	8	0	0	2	0	1	0	1	1	2	1	2	2	2	2	2	2	2	8	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:54324818G>C	ENST00000354646.2	-	7	1626	c.1188C>G	c.(1186-1188)atC>atG	p.I396M	WNK3_ENST00000375169.3_Missense_Mutation_p.I396M|WNK3_ENST00000375159.2_Missense_Mutation_p.I396M	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	396	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATAGGTCCCTGATAGACAACC	0.333													46	26					0	0	0	0	C	54324818	G	C	54324818	3	2	58	1	0	0	0	0	1	0	0	0	17475	1280	45	2	4286	2	WNK3	23	54324818	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4157523	54324818	100945742	1003	11595											
ALAS2	212	broad.mit.edu	37	chrX	55039985	55039985	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caagcgcaggagctcttcacCccgggggacagttgggtagt	8	7	15	11	2	2	0	1	0	1	0	2	2	2	2	2	4	2	4	2	4	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:55039985C>G	ENST00000330807.5	-	10	1671	c.1534G>C	c.(1534-1536)Ggt>Cgt	p.G512R	ALAS2_ENST00000498636.1_Intron|ALAS2_ENST00000396198.3_Missense_Mutation_p.G499R|ALAS2_ENST00000335854.4_Missense_Mutation_p.G475R	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	512					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	AGCTCTTCACCCCGGGGGACA	0.572													17	44					0	0	0	0	G	55039985	C	G	55039985	3	3	58	1	0	0	0	0	1	0	0	0	485	623	22	4	237	4	ALAS2	23	55039985	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	715167	55039985	100230575	1004	11596											
VSIG4	11326	broad.mit.edu	37	chrX	65242121	65242121	+	Frame_Shift_Del	DEL	C	C	-																															atttttaacagacacttttgCcctcagtggccagaaactca																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:65242121delC	ENST00000374737.4	-	8	1292	c.1184delG	c.(1183-1185)gcfs	p.G395fs	VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Frame_Shift_Del_p.G301fs	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	395					complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACACTTTTGCCCTCAGTGGC	0.512													39	28	---	---	---	---					-	65242121	C	-	65242121	7	5	58	1	0	1	0	1	0	0	0	0	17321	739	26	0	19	0	VSIG4	23	65242121	Frame_Shift_Del	DEL	C	TCGA-CN-4723-01A-01D-1434-08	10202136	65242121	90028439	1005	11597											
HEPH	9843	broad.mit.edu	37	chrX	65479995	65479995	+	Frame_Shift_Del	DEL	G	G	-																															ctgttcccagggacttttgaGgttgtggagatggtggccag																										TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:65479995delG	ENST00000519389.1	+	19	3431	c.3252delG	c.(3250-3252)gafs	p.E1084fs	HEPH_ENST00000336279.5_Frame_Shift_Del_p.E763fs|HEPH_ENST00000441993.2_Frame_Shift_Del_p.E1033fs|HEPH_ENST00000374727.3_Frame_Shift_Del_p.E1033fs|HEPH_ENST00000343002.2_Frame_Shift_Del_p.E1030fs|HEPH_ENST00000419594.1_Frame_Shift_Del_p.E841fs			Q9BQS7	HEPH_HUMAN	hephaestin	1030	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGACTTTTGAGGTTGTGGAGA	0.517													38	43	---	---	---	---					-	65479995	G	-	65479995	7	5	58	1	0	1	0	1	0	0	0	0	7104	991	35	0	3326	0	HEPH	23	65479995	Frame_Shift_Del	DEL	G	TCGA-CN-4723-01A-01D-1434-08	237874	65479995	89790565	1006	11598											
DGAT2L6	347516	broad.mit.edu	37	chrX	69420191	69420191	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcttttggtgtcttcatCaactttgccactgaggccac	6	15	7	13	0	4	1	2	1	2	0	5	1	4	1	2	2	2	0	2	2	1	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:69420191C>A	ENST00000333026.3	+	4	454	c.354C>A	c.(352-354)atC>atA	p.I118I		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	118					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GTGTCTTCATCAACTTTGCCA	0.463													37	39					3.66082e-28	3.93234e-28	1	0	A	69420191	C	A	69420191	2	1	58	1	0	0	0	0	0	0	0	1	4496	816	29	2		2	DGAT2L6	23	69420191	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3940196	69420191	85850369	1007	11599											
OGT	8473	broad.mit.edu	37	chrX	70776821	70776821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatcagtcctacctttgctGatgcctactctaatatggga	10	13	8	10	0	2	1	1	1	1	0	3	3	3	2	3	1	4	1	3	1	5	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:70776821G>A	ENST00000373719.3	+	10	1403	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N	OGT_ENST00000373701.3_Missense_Mutation_p.D386N	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	396					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TACCTTTGCTGATGCCTACTC	0.393													35	24					0	0	0	0	A	70776821	G	A	70776821	3	1	58	1	0	0	0	0	1	0	0	0	10918	1290	45	2	1224	2	OGT	23	70776821	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	1356630	70776821	84493739	1008	11600											
KIAA2022	340533	broad.mit.edu	37	chrX	73961334	73961334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtcatcagtgatatcatCatcgccatccttttcacagg	11	12	7	11	1	5	1	5	1	0	0	7	2	6	1	2	1	0	0	2	1	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:73961334C>T	ENST00000373468.1	-	3	3709	c.3058G>A	c.(3058-3060)Gat>Aat	p.D1020N	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D1020N			Q5QGS0	K2022_HUMAN	KIAA2022	1020					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGATATCATCATCGCCATCC	0.473													43	49					0	0	0	0	T	73961334	C	T	73961334	3	4	58	1	0	0	0	0	1	0	0	0	8320	826	29	2	1500	2	KIAA2022	23	73961334	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	3184513	73961334	81309226	1009	11601											
ABCB7	22	broad.mit.edu	37	chrX	74288934	74288934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgctacccttttgaggctCatagaagcgaaataatagcc	14	10	8	9	1	1	2	1	1	0	1	1	3	1	2	2	1	4	2	2	1	7	6			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:74288934C>T	ENST00000253577.3	-	12	1594	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000373394.3_Missense_Mutation_p.E523K|ABCB7_ENST00000339447.4_Missense_Mutation_p.E483K	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	523	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TTTTGAGGCTCATAGAAGCGA	0.403													70	61					0	0	0	0	T	74288934	C	T	74288934	3	4	58	1	0	0	0	0	1	0	0	0	46	835	29	2	711	2	ABCB7	23	74288934	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	327600	74288934	80981626	1010	11602											
ATRX	546	broad.mit.edu	37	chrX	76891448	76891448	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgataaccatatttctatGaacctgcactaaaggttctt	12	16	5	8	0	2	2	0	2	2	0	2	2	2	2	2	1	3	2	2	1	6	8			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:76891448G>C	ENST00000373344.5	-	16	4871	c.4657C>G	c.(4657-4659)Cat>Gat	p.H1553D	ATRX_ENST00000395603.3_Missense_Mutation_p.H1515D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1553					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATATTTCTATGAACCTGCACT	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						27	14					0	0	0	0	C	76891448	G	C	76891448	3	2	58	1	0	0	0	0	1	0	0	0	1212	1290	45	2	2901	2	ATRX	23	76891448	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	2602514	76891448	78379112	1011	11603											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913599	77913599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctctggggctgctggggcctCctggagttcccaggctgctg	2	10	16	13	0	1	0	0	0	1	0	3	1	3	1	3	6	2	5	3	6	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:77913599C>T	ENST00000321110.1	-	2	614	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	107	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCTGGGGCCTCCTGGAGTTCC	0.637													8	13					0	0	0	0	T	77913599	C	T	77913599	3	4	58	1	0	0	0	0	1	0	0	0	17686	864	30	2	1112	2	ZCCHC5	23	77913599	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1022151	77913599	77356961	1012	11604											
BRWD3	254065	broad.mit.edu	37	chrX	79999617	79999617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatactcttactaccttatCacagctgcctgcagcaataa	12	11	4	14	0	2	0	1	0	1	0	2	0	2	0	3	0	7	3	3	0	6	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:79999617C>T	ENST00000373275.4	-	8	943	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	243										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACTACCTTATCACAGCTGCCT	0.443													52	42					0	0	0	0	T	79999617	C	T	79999617	3	4	58	1	0	0	0	0	1	0	0	0	1534	826	29	2	4817	2	BRWD3	23	79999617	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	2086018	79999617	75270943	1013	11605											
ZMAT1	84460	broad.mit.edu	37	chrX	101139594	101139594	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaaatgggagtctttgttCaaacattctatgtctgggtc	9	15	9	8	0	5	0	2	0	3	0	6	1	5	1	0	2	1	1	0	2	3	4			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:101139594C>G	ENST00000372782.3	-	7	852	c.805G>C	c.(805-807)Gaa>Caa	p.E269Q	ZMAT1_ENST00000540921.1_Missense_Mutation_p.E269Q|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.E98Q	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	98						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AGTCTTTGTTCAAACATTCTA	0.413													80	56					0	0	0	0	G	101139594	C	G	101139594	3	3	58	1	0	0	0	0	1	0	0	0	17786	835	29	2	1115	2	ZMAT1	23	101139594	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	21139977	101139594	54130966	1014	11606											
TCEAL2	140597	broad.mit.edu	37	chrX	101382452	101382452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggtggctgcagggcccCacgaagggacactgaagaca	11	3	16	11	1	0	2	0	1	0	1	0	4	0	3	2	5	1	2	2	5	2	0			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:101382452C>T	ENST00000372780.1	+	3	869	c.650C>T	c.(649-651)cCa>cTa	p.P217L	TCEAL2_ENST00000329035.2_Missense_Mutation_p.P217L	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TGCAGGGCCCCACGAAGGGAC	0.473													46	73					0	0	0	0	T	101382452	C	T	101382452	3	4	58	1	0	0	0	0	1	0	0	0	15765	594	21	4	652	4	TCEAL2	23	101382452	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	242858	101382452	53888108	1015	11607											
TCEAL5	340543	broad.mit.edu	37	chrX	102528931	102528931	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccgcccctcactcccctCacaccccgttggccccttgg	3	8	6	24	2	2	0	2	0	0	0	4	0	4	0	10	2	0	1	10	2	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:102528931C>G	ENST00000372680.1	-	3	855	c.561G>C	c.(559-561)gtG>gtC	p.V187V		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCACTCCCCTCACACCCCGTT	0.483													49	63					0	0	0	0	G	102528931	C	G	102528931	2	3	58	1	0	0	0	0	0	0	0	1	15768	813	29	2		2	TCEAL5	23	102528931	Silent	SNP	C	TCGA-CN-4723-01A-01D-1434-08	1146479	102528931	52741629	1016	11608											
PLP1	5354	broad.mit.edu	37	chrX	103041593	103041593	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggttccagaggccaacatCaagctcattctttggagcgg	9	9	13	10	1	3	1	2	0	1	1	4	2	4	2	2	5	3	2	2	5	2	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:103041593C>G	ENST00000418604.1	+	4	671	c.391C>G	c.(391-393)Caa>Gaa	p.Q131E	PLP1_ENST00000303958.2_Missense_Mutation_p.Q131E|PLP1_ENST00000361621.2_Intron	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	131			Missing (in HLD1).		cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGGCCAACATCAAGCTCATTC	0.542													89	87					0	0	0	0	G	103041593	C	G	103041593	3	3	58	1	0	0	0	0	1	0	0	0	12176	827	29	2	401	2	PLP1	23	103041593	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	512662	103041593	52228967	1017	11609											
H2BFWT	158983	broad.mit.edu	37	chrX	103267305	103267305	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactttctctgttgctgtatGgcatacagtgaagttctgga	8	15	10	8	0	2	1	0	1	2	0	3	2	2	2	0	2	2	5	0	2	3	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:103267305G>A	ENST00000217926.5	-	2	533	c.507C>T	c.(505-507)gcC>gcT	p.A169A		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	169					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						gttgctgtatggcatacagtg	0.398													23	85					0	0	0	0	A	103267305	G	A	103267305	2	1	58	1	0	0	0	0	0	0	0	1	6982	1335	47	4		4	H2BFWT	23	103267305	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	225712	103267305	52003255	1018	11610											
ESX1	80712	broad.mit.edu	37	chrX	103499187	103499187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccgcttctgttccgtactCaggtttggaccgtgtattct	4	17	9	11	3	3	0	1	0	2	0	5	1	5	1	3	2	1	5	3	2	2	7			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:103499187C>G	ENST00000372588.4	-	2	237	c.154G>C	c.(154-156)Gag>Cag	p.E52Q		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	52					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GTTCCGTACTCAGGTTTGGAC	0.587													119	130					0	0	0	0	G	103499187	C	G	103499187	3	3	58	1	0	0	0	0	1	0	0	0	5301	835	29	2	1078	2	ESX1	23	103499187	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	231882	103499187	51771373	1019	11611											
DOCK11	139818	broad.mit.edu	37	chrX	117773418	117773418	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgcatgatgcctggctgtCaaaacacttcggaatagacc	11	9	11	10	1	1	2	1	1	0	1	2	3	1	3	2	3	3	2	2	3	4	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:117773418C>G	ENST00000276204.6	+	38	4096	c.4022C>G	c.(4021-4023)tCa>tGa	p.S1341*	DOCK11_ENST00000276202.7_Nonsense_Mutation_p.S1341*			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1341					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GCCTGGCTGTCAAAACACTTC	0.393													3	91					0	0	0	0	G	117773418	C	G	117773418	4	3	58	1	0	0	0	0	0	1	0	0	4722	838	29	2	4172	2	DOCK11	23	117773418	Nonsense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	14274231	117773418	37497142	1020	11612											
KIAA1210	57481	broad.mit.edu	37	chrX	118220824	118220824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctggttattattaccatCaccactctcaagatcttctt	10	16	4	11	0	4	1	2	0	3	1	5	1	4	1	2	1	2	2	2	1	4	5			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:118220824C>T	ENST00000402510.2	-	11	4368	c.4369G>A	c.(4369-4371)Gat>Aat	p.D1457N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1457										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTATTACCATCACCACTCTCA	0.453													31	32					0	0	0	0	T	118220824	C	T	118220824	3	4	58	1	0	0	0	0	1	0	0	0	8265	826	29	2	776	2	KIAA1210	23	118220824	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	447406	118220824	37049736	1021	11613											
BCORL1	63035	broad.mit.edu	37	chrX	129147430	129147430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaggttcccctctccgtcCctgccccagtcccccattca	4	10	5	22	1	2	0	1	0	1	0	7	0	6	0	9	1	1	1	9	1	0	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:129147430C>T	ENST00000540052.1	+	3	726	c.682C>T	c.(682-684)Cct>Tct	p.P228S	BCORL1_ENST00000359304.2_Missense_Mutation_p.P228S|BCORL1_ENST00000303743.5_Missense_Mutation_p.P228S|BCORL1_ENST00000218147.7_Missense_Mutation_p.P228S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	228	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCTCTCCGTCCCTGCCCCAGT	0.622													5	178					0	0	0	0	T	129147430	C	T	129147430	3	4	58	1	0	0	0	0	1	0	0	0	1391	623	22	4	692	4	BCORL1	23	129147430	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	10926606	129147430	26123130	1022	11614											
IDS	3423	broad.mit.edu	37	chrX	148577955	148577955	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcccgttgcctgatgtccatCcaggggttgtaggccacagg	6	10	13	12	1	0	1	0	1	0	0	3	1	3	1	5	4	1	3	5	4	1	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:148577955C>G	ENST00000340855.6	-	6	1010	c.801G>C	c.(799-801)tgG>tgC	p.W267C	IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370443.4_Missense_Mutation_p.W267C|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000370441.4_Missense_Mutation_p.W267C|IDS_ENST00000541269.1_Missense_Mutation_p.W56C	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	267						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGATGTCCATCCAGGGGTTGT	0.542													6	187					0	0	0	0	G	148577955	C	G	148577955	3	3	58	1	0	0	0	0	1	0	0	0	7556	856	30	2	897	2	IDS	23	148577955	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08	19430525	148577955	6692605	1023	11615											
IDS	3423	broad.mit.edu	37	chrX	148586602	148586602	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgtttcggatccgagggcGacgcagacggagctcagaac	9	6	15	11	6	1	2	1	0	0	2	3	6	2	4	1	3	3	3	1	3	1	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:148586602G>A	ENST00000340855.6	-	1	275	c.66C>T	c.(64-66)gtC>gtT	p.V22V	IDS_ENST00000370443.4_Silent_p.V22V|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000370441.4_Silent_p.V22V|IDS_ENST00000428056.2_Silent_p.V22V|IDS_ENST00000541269.1_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	22						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ATCCGAGGGCGACGCAGACGG	0.682													17	24					0	0	0	0	A	148586602	G	A	148586602	2	1	58	1	0	0	0	0	0	0	0	1	7556	1045	37	1		1	IDS	23	148586602	Silent	SNP	G	TCGA-CN-4723-01A-01D-1434-08	8647	148586602	6683958	1024	11616											
MAGEA11	4110	broad.mit.edu	37	chrX	148798247	148798247	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaattgggtgcaggaaaaGtacctggtgtaccggcaggt	12	8	14	7	1	0	0	0	0	0	0	0	1	0	1	2	5	3	4	2	5	6	3			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:148798247G>C	ENST00000355220.5	+	5	1203	c.1101G>C	c.(1099-1101)aaG>aaC	p.K367N	MAGEA11_ENST00000333104.4_Missense_Mutation_p.K338N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	367	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGCAGGAAAAGTACCTGGTGT	0.557													92	96					0	0	0	0	C	148798247	G	C	148798247	3	2	58	1	0	0	0	0	1	0	0	0	9230	1020	36	4	1128	4	MAGEA11	23	148798247	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	211645	148798247	6472313	1025	11617											
PLXNA3	55558	broad.mit.edu	37	chrX	153693806	153693806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcatggtgacaccgagctgGacttctccgtggtctgggat	7	10	14	10	2	2	1	0	1	2	0	3	4	2	3	2	4	2	2	2	4	0	1			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:153693806G>A	ENST00000369682.3	+	12	2459	c.2284G>A	c.(2284-2286)Gac>Aac	p.D762N		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	762					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCGAGCTGGACTTCTCCGT	0.552													56	40					0	0	0	0	A	153693806	G	A	153693806	3	1	58	1	0	0	0	0	1	0	0	0	12193	1174	41	2	2326	2	PLXNA3	23	153693806	Missense_Mutation	SNP	G	TCGA-CN-4723-01A-01D-1434-08	4895559	153693806	1576754	1026	11618											
DDX3Y	8653	broad.mit.edu	37	chrY	15028313	15028313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgagaggaggcccttcacCagtttcgctcaggaaaaagc	12	7	11	11	2	2	1	2	0	0	1	4	4	2	3	2	3	1	2	2	3	2	2			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrY:15028313C>A	ENST00000336079.3	+	13	1556	c.1450C>A	c.(1450-1452)Cag>Aag	p.Q484K	DDX3Y_ENST00000360160.4_Missense_Mutation_p.Q484K	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	484	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						GGCCCTTCACCAGTTTCGCTC	0.398													14	161					0.00316338	0.00321297	1	0	A	15028313	C	A	15028313	3	1	58	1	0	0	0	0	1	0	0	0	4391	595	21	4	1500	4	DDX3Y	24	15028313	Missense_Mutation	SNP	C	TCGA-CN-4723-01A-01D-1434-08		15028313	44345253	1027	11619											
CAMTA1	23261	broad.mit.edu	37	chr1	6880243	6880243	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattttctgtttccttagagCgtttcccaaagtgtattctg	7	19	7	8	1	2	1	0	0	2	1	4	1	4	1	2	0	1	3	2	0	4	8			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:6880243C>T	ENST00000303635.7	+	2	255	c.48C>T	c.(46-48)agC>agT	p.S16S	CAMTA1_ENST00000467404.2_Intron|CAMTA1_ENST00000473578.1_Silent_p.S16S|CAMTA1_ENST00000476163.1_Intron|CAMTA1_ENST00000439411.2_Silent_p.S16S|CAMTA1_ENST00000557126.1_Silent_p.S16S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTCCTTAGagcgtttcccaaa	0.373			T	WWTR1	epitheliod hemangioendothelioma								8	114					0	0	0	0	T	6880243	C	T	6880243	2	4	59	1	0	0	0	0	0	0	0	1	2638	767	27	1		1	CAMTA1	1	6880243	Silent	SNP	C	TCGA-CN-4725-01A-01D-1434-08		6880243	242370378	1	11620											
HTR6	3362	broad.mit.edu	37	chr1	19992531	19992531	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgggcgctgggtgctggcGcgcggcctctgcctgctctg	1	9	17	14	5	2	0	0	0	2	0	2	0	2	0	2	4	4	3	2	4	1	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:19992531G>A	ENST00000289753.1	+	1	752	c.285G>A	c.(283-285)gcG>gcA	p.A95A		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	95					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GGGTGCTGGCGCGCGGCCTCT	0.652													6	112					0	0	0	0	A	19992531	G	A	19992531	2	1	59	1	0	0	0	0	0	0	0	1	7504	1074	38	1		1	HTR6	1	19992531	Silent	SNP	G	TCGA-CN-4725-01A-01D-1434-08	13112288	19992531	229258090	2	11621											
KIAA1522	57648	broad.mit.edu	37	chr1	33235953	33235953	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcccagcctcagtccgCtcgctggggcgcttctcctc	3	8	11	19	3	2	0	1	0	1	0	6	0	3	0	5	2	2	3	5	2	0	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:33235953C>T	ENST00000401073.2	+	6	1243	c.1173C>T	c.(1171-1173)cgC>cgT	p.R391R	KIAA1522_ENST00000373481.3_Silent_p.R343R|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Silent_p.R332R	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	332	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCTCAGTCCGCTCGCTGGGGC	0.687													17	44					0	0	0	0	T	33235953	C	T	33235953	2	4	59	1	0	0	0	0	0	0	0	1	8289	784	28	4		4	KIAA1522	1	33235953	Silent	SNP	C	TCGA-CN-4725-01A-01D-1434-08	13243422	33235953	216014668	3	11622											
RABGGTB	5876	broad.mit.edu	37	chr1	76260255	76260255	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttttgggagaagaacagAttaaacctgttaatcctgtc	13	12	8	8	0	0	3	0	0	0	3	2	4	1	3	2	1	2	1	2	1	5	4			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:76260255A>G	ENST00000319942.3	+	9	987	c.916A>G	c.(916-918)Att>Gtt	p.I306V	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_Missense_Mutation_p.I132V	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	306					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						AGAAGAACAGATTAAACCTGT	0.353													65	123					0	0	0	0	G	76260255	A	G	76260255	3	3	59	1	0	0	0	0	1	0	0	0	13050	333	12	5	950	5	RABGGTB	1	76260255	Missense_Mutation	SNP	A	TCGA-CN-4725-01A-01D-1434-08	43024302	76260255	172990366	4	11623											
PALMD	54873	broad.mit.edu	37	chr1	100154385	100154385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgaagactggagaaagtaCagttctgtcttcaatacctc	12	12	8	9	0	3	3	1	1	2	2	4	4	3	3	1	1	2	2	1	1	5	5			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:100154385C>A	ENST00000263174.4	+	7	944	c.569C>A	c.(568-570)aCa>aAa	p.T190K	PALMD_ENST00000605497.1_Missense_Mutation_p.T190K	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	190					regulation of cell shape	cytoplasm|membrane		p.T190K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GGAGAAAGTACAGTTCTGTCT	0.318													6	224					0.0381472	0.0389856	1	0	A	100154385	C	A	100154385	3	1	59	1	0	0	0	0	1	0	0	0	11482	478	17	4	595	4	PALMD	1	100154385	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08	23894130	100154385	149096236	5	11624											
C1orf110	339512	broad.mit.edu	37	chr1	162824983	162824983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagatggattcacagaatCtttctcttgggcttgtggtt	7	17	10	7	0	3	2	1	0	2	2	4	3	3	3	0	3	0	2	0	3	2	6			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:162824983C>A	ENST00000367912.1	-	4	652	c.478G>T	c.(478-480)Gat>Tat	p.D160Y	C1orf110_ENST00000367910.1_Missense_Mutation_p.D161Y|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Missense_Mutation_p.D156Y			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	161								p.D161N(1)		endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TTCACAGAATCTTTCTCTTGG	0.468													146	580					3.50555e-50	4.02489e-50	1	0	A	162824983	C	A	162824983	3	1	59	1	0	0	0	0	1	0	0	0	2002	913	32	2	431	2	C1orf110	1	162824983	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08	62670598	162824983	86425638	6	11625											
F5	2153	broad.mit.edu	37	chr1	169529961	169529961	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctggagccacagcgtcGtccatcttctccgcagggaa	7	7	12	15	4	2	0	0	0	2	0	5	2	3	2	4	3	2	1	4	3	1	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:169529961G>A	ENST00000367796.3	-	4	618	c.417C>T	c.(415-417)gaC>gaT	p.D139D	F5_ENST00000546081.1_Silent_p.D2D|F5_ENST00000367797.3_Silent_p.D139D			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	139	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCACAGCGTCGTCCATCTTCT	0.517													76	147					0	0	0	0	A	169529961	G	A	169529961	2	1	59	1	0	0	0	0	0	0	0	1	5386	1136	40	1		1	F5	1	169529961	Silent	SNP	G	TCGA-CN-4725-01A-01D-1434-08	6704978	169529961	79720660	7	11626											
TNN	63923	broad.mit.edu	37	chr1	175086194	175086194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcgctacacctctgccaagGacggagagaccagggaggtt	10	6	14	11	2	1	1	0	0	1	1	1	5	1	4	3	4	3	2	3	4	2	2			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:175086194G>A	ENST00000239462.4	+	10	2352	c.2239G>A	c.(2239-2241)Gac>Aac	p.D747N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	747	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTCTGCCAAGGACGGAGAGAC	0.642													84	143					0	0	0	0	A	175086194	G	A	175086194	3	1	59	1	0	0	0	0	1	0	0	0	16417	1174	41	2	2273	2	TNN	1	175086194	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08	5556233	175086194	74164427	8	11627											
PRG4	10216	broad.mit.edu	37	chr1	186276564	186276564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggagcctgcacccacCacccccaagaagcctgcccc	10	2	7	22	0	0	1	0	0	0	1	0	2	0	2	9	1	4	1	9	1	3	0			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:186276564C>T	ENST00000445192.2	+	7	1758	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	PRG4_ENST00000367485.4_Silent_p.T478T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T528T|PRG4_ENST00000367483.4_Silent_p.T530T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	571	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T571T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACCACCCCCAAGA	0.642													5	122					0	0	0	0	T	186276564	C	T	186276564	2	4	59	1	0	0	0	0	0	0	0	1	12561	581	21	4		4	PRG4	1	186276564	Silent	SNP	C	TCGA-CN-4725-01A-01D-1434-08	11190370	186276564	62974057	9	11628											
GPR37L1	9283	broad.mit.edu	37	chr1	202092540	202092540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcattgtgggcaacctgtCggtcatgtgcatcgtgtggc	5	11	16	9	2	1	0	1	0	0	0	3	0	1	0	1	4	2	3	1	4	1	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:202092540C>T	ENST00000367282.4	+	1	555	c.449C>T	c.(448-450)tCg>tTg	p.S150L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	150						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GGCAACCTGTCGGTCATGTGC	0.572													50	64					0	0	0	0	T	202092540	C	T	202092540	3	4	59	1	0	0	0	0	1	0	0	0	6741	893	31	1	451	1	GPR37L1	1	202092540	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08	15815976	202092540	47158081	10	11629											
PXDN	7837	broad.mit.edu	37	chr2	1652573	1652573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaatgcggttgtgctcGcggaaccacagcgtgtgcat	7	9	15	10	4	0	0	0	0	0	0	1	1	0	1	1	3	5	4	1	3	2	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:1652573G>A	ENST00000252804.4	-	17	3029	c.2979C>T	c.(2977-2979)cgC>cgT	p.R993R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	993					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTTGTGCTCGCGGAACCACA	0.647													7	10					0	0	0	0	A	1652573	G	A	1652573	2	1	59	1	0	0	0	0	0	0	0	1	12929	1074	38	1		1	PXDN	2	1652573	Silent	SNP	G	TCGA-CN-4725-01A-01D-1434-08		1652573	241546800	11	11630											
ALMS1	7840	broad.mit.edu	37	chr2	73718322	73718322	+	Frame_Shift_Del	DEL	T	T	-																															tgctgcttctaaagcgaggaTgaatagtgagtttaactttg																										TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:73718322delT	ENST00000264448.6	+	10	9344	c.9233delT	c.(9232-9234)agfs	p.M3078fs	ALMS1_ENST00000409009.1_Frame_Shift_Del_p.M3036fs	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3078					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAAGCGAGGATGAATAGTGAG	0.383													62	124	---	---	---	---					-	73718322	T	-	73718322	7	5	59	1	0	1	0	1	0	0	0	0	535	1464	51	0	9271	0	ALMS1	2	73718322	Frame_Shift_Del	DEL	T	TCGA-CN-4725-01A-01D-1434-08	72065749	73718322	169481051	12	11631											
DOK1	1796	broad.mit.edu	37	chr2	74782758	74782758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaagctttctgccctggaGatgctggagaactccttgta	8	12	10	11	0	1	2	0	0	1	2	2	4	2	2	3	2	4	3	3	2	3	4			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:74782758G>T	ENST00000233668.5	+	3	1086	c.417G>T	c.(415-417)gaG>gaT	p.E139D	DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_Missense_Mutation_p.E139D|DOK1_ENST00000409429.1_5'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	139					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGCCCTGGAGATGCTGGAGA	0.587													46	86					2.59344e-38	2.90591e-38	1	0	T	74782758	G	T	74782758	3	4	59	1	0	0	0	0	1	0	0	0	4732	933	33	2	427	2	DOK1	2	74782758	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08	1064436	74782758	168416615	13	11632											
SNRNP200	23020	broad.mit.edu	37	chr2	96944428	96944428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagctctgacaagtggtccGacaagtgacgatgggagatg	11	7	14	9	2	1	3	0	2	1	1	2	6	2	3	2	2	1	1	2	2	2	0			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:96944428G>A	ENST00000323853.5	-	38	5422	c.5345C>T	c.(5344-5346)tCg>tTg	p.S1782L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1782						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CAAGTGGTCCGACAAGTGACG	0.567													30	121					0	0	0	0	A	96944428	G	A	96944428	3	1	59	1	0	0	0	0	1	0	0	0	14940	1059	37	1	1097	1	SNRNP200	2	96944428	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08	22161670	96944428	146254945	14	11633											
MARCO	8685	broad.mit.edu	37	chr2	119739968	119739968	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagccacaggcctgaaaGgaagcaaaggggacacaggt	15	2	15	9	0	0	1	0	1	0	0	0	4	0	4	2	6	2	1	2	6	3	0	rs137938144		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:119739968G>T	ENST00000541757.1	+	13	1191	c.811G>T	c.(811-813)Gga>Tga	p.G271*	MARCO_ENST00000327097.4_Nonsense_Mutation_p.G349*			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	349	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.G349R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGCCTGAAAGGAAGCAAAGG	0.567													74	164					2.17518e-87	2.52864e-87	1	0	T	119739968	G	T	119739968	4	4	59	1	0	0	0	0	0	1	0	0	9380	1001	35	4	1091	4	MARCO	2	119739968	Nonsense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08	22795540	119739968	123459405	15	11634											
EVX2	344191	broad.mit.edu	37	chr2	176947052	176947052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcgccgcacttgatccgCgccagagccggagccaccca	8	4	12	17	5	0	2	0	1	0	1	1	3	1	3	6	1	3	2	6	1	1	2			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:176947052C>T	ENST00000308618.4	-	2	689	c.553G>A	c.(553-555)Gcg>Acg	p.A185T		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	185						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		ACTTGATCCGCGCCAGAGCCG	0.721													16	21					0	0	0	0	T	176947052	C	T	176947052	3	4	59	1	0	0	0	0	1	0	0	0	5332	768	27	1	883	1	EVX2	2	176947052	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08	57207084	176947052	66252321	16	11635											
TMEM198	130612	broad.mit.edu	37	chr2	220412557	220412557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgccctgctcactctgCgctggccccgcccactcacc	3	9	8	21	2	4	0	2	0	2	0	4	0	4	0	5	1	3	2	5	1	0	0			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:220412557C>T	ENST00000344458.2	+	4	1081	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	TMEM198_ENST00000373883.3_Missense_Mutation_p.R166C			Q66K66	TM198_HUMAN	transmembrane protein 198	166	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCTCACTCTGCGCTGGCCCCG	0.706													19	23					0	0	0	0	T	220412557	C	T	220412557	3	4	59	1	0	0	0	0	1	0	0	0	16213	768	27	1	502	1	TMEM198	2	220412557	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08	43465505	220412557	22786816	17	11636											
ADAMTS9	56999	broad.mit.edu	37	chr3	64606848	64606848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaggctggggcagccgatCgcatctttgatcagaaacag	10	8	12	11	2	2	2	1	1	1	1	4	3	3	2	2	3	2	3	2	3	1	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr3:64606848C>T	ENST00000498707.1	-	19	3097	c.2755G>A	c.(2755-2757)Gat>Aat	p.D919N	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D891N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	919	TSP type-1 2.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGCAGCCGATCGCATCTTTGA	0.463													14	31					0	0	0	0	T	64606848	C	T	64606848	3	4	59	1	0	0	0	0	1	0	0	0	273	884	31	1	3136	1	ADAMTS9	3	64606848	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08		64606848	133415582	18	11637											
STK32B	55351	broad.mit.edu	37	chr4	5170125	5170125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggttcggaatgttttcCgggagctgcagatcatgcaa	10	11	13	7	2	1	2	1	1	0	1	3	4	2	4	1	3	3	5	1	3	2	3			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr4:5170125C>T	ENST00000282908.5	+	3	630	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	STK32B_ENST00000510398.1_Missense_Mutation_p.R23W|STK32B_ENST00000512636.1_Missense_Mutation_p.R23W	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	70	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R70R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GAATGTTTTCCGGGAGCTGCA	0.537													18	40					0	0	0	0	T	5170125	C	T	5170125	3	4	59	1	0	0	0	0	1	0	0	0	15388	643	23	1	218	1	STK32B	4	5170125	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08		5170125	185984151	19	11638											
CNGA1	1259	broad.mit.edu	37	chr4	47939397	47939397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacaaagacatactcagaatCcctcacgggagggggtgttt	12	8	11	10	1	2	2	2	0	0	2	3	3	3	3	1	3	1	1	1	3	3	2			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr4:47939397C>T	ENST00000402813.3	-	10	1463	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	CNGA1_ENST00000544810.1_Missense_Mutation_p.D372N|CNGA1_ENST00000514170.1_Missense_Mutation_p.D372N|CNGA1_ENST00000420489.2_Missense_Mutation_p.D372N|CNGA1_ENST00000358519.4_Missense_Mutation_p.D372N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	372					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TACTCAGAATCCCTCACGGGA	0.418													133	176					0	0	0	0	T	47939397	C	T	47939397	3	4	59	1	0	0	0	0	1	0	0	0	3626	855	30	2	962	2	CNGA1	4	47939397	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08	42769272	47939397	143214879	20	11639											
CDH10	1008	broad.mit.edu	37	chr5	24537764	24537764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgagtgatccatctcctTtatcttggtctgaatgtagc	8	17	8	8	0	3	3	0	3	3	0	5	3	4	3	2	1	1	1	2	1	3	5			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr5:24537764T>C	ENST00000264463.4	-	3	758	c.251A>G	c.(250-252)aAa>aGa	p.K84R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	84	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCCATCTCCTTTATCTTGGTC	0.363										HNSCC(23;0.051)			5	91					0	0	0	0	C	24537764	T	C	24537764	3	2	59	1	0	0	0	0	1	0	0	0	3125	1841	64	5	2155	5	CDH10	5	24537764	Missense_Mutation	SNP	T	TCGA-CN-4725-01A-01D-1434-08		24537764	156377496	21	11640											
VCAN	1462	broad.mit.edu	37	chr5	82816466	82816466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtactacaaaatatgatGaaaatattacaacagtgctt	18	11	6	6	0	0	2	0	2	0	0	0	2	0	2	0	1	5	2	0	1	10	6			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr5:82816466G>A	ENST00000265077.3	+	7	2906	c.2341G>A	c.(2341-2343)Gaa>Aaa	p.E781K	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E733K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E781K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	781	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAATATGATGAAAATATTAC	0.383													34	62					0	0	0	0	A	82816466	G	A	82816466	3	1	59	1	0	0	0	0	1	0	0	0	17234	1291	45	2	2363	2	VCAN	5	82816466	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08	58278702	82816466	98098794	22	11641											
HIST1H1E	3008	broad.mit.edu	37	chr6	26157170	26157170	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccaagccaaaaaaggcGcccaagagcccagcgaaggc	15	0	12	14	2	0	1	0	0	0	1	0	2	0	1	4	2	4	1	4	2	6	0			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:26157170G>T	ENST00000304218.3	+	1	612	c.552G>T	c.(550-552)gcG>gcT	p.A184A		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	184					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAAAAAAGGCGCCCAAGAGCC	0.567													6	28					0.00198382	0.00209654	1	0	T	26157170	G	T	26157170	2	4	59	1	0	0	0	0	0	0	0	1	7176	1074	38	3		3	HIST1H1E	6	26157170	Silent	SNP	G	TCGA-CN-4725-01A-01D-1434-08		26157170	144957897	23	11642											
OR2J2	26707	broad.mit.edu	37	chr6	29141855	29141855	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccacttgttggttgcggCttcttgggtaattggtttta	4	18	12	7	1	1	0	0	0	1	0	1	0	1	0	1	4	2	5	1	4	2	9			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:29141855C>A	ENST00000377167.2	+	1	545	c.443C>A	c.(442-444)gCt>gAt	p.A148D		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TTGGTTGCGGCTTCTTGGGTA	0.458													213	239					2.6979e-105	3.176e-105	1	0	A	29141855	C	A	29141855	3	1	59	1	0	0	0	0	1	0	0	0	11074	797	28	4	445	4	OR2J2	6	29141855	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08	2984685	29141855	141973212	24	11643											
RING1	6015	broad.mit.edu	37	chr6	33177826	33177826	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccatcaagaccgagtgcTtatccgcctgagccgcctgc	7	7	11	16	3	1	2	1	1	0	1	2	3	2	2	6	1	3	1	6	1	2	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:33177826T>G	ENST00000374656.4	+	4	582	c.374T>G	c.(373-375)cTt>cGt	p.L125R	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	125	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GACCGAGTGCTTATCCGCCTG	0.582													10	49					0	0	0	0	G	33177826	T	G	33177826	3	3	59	1	0	0	0	0	1	0	0	0	13459	1609	56	5	384	5	RING1	6	33177826	Missense_Mutation	SNP	T	TCGA-CN-4725-01A-01D-1434-08	4035971	33177826	137937241	25	11644											
MED23	9439	broad.mit.edu	37	chr6	131917292	131917292	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggccctcaaaatacaacttCtctggatatttctgtggaat	12	13	7	9	0	3	0	1	0	2	0	4	2	3	2	1	3	2	0	1	3	6	4			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:131917292C>T	ENST00000403834.3	-	22	2981	c.2808G>A	c.(2806-2808)gaG>gaA	p.E936E	MED23_ENST00000368060.3_Silent_p.E930E|MED23_ENST00000368068.3_Silent_p.E930E|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Silent_p.E936E|MED23_ENST00000354577.4_Silent_p.E936E|MED23_ENST00000545957.1_Silent_p.E571E			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	930					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATACAACTTCTCTGGATATT	0.378													19	96					0	0	0	0	T	131917292	C	T	131917292	2	4	59	1	0	0	0	0	0	0	0	1	9510	912	32	2		2	MED23	6	131917292	Silent	SNP	C	TCGA-CN-4725-01A-01D-1434-08	98739466	131917292	39197775	26	11645											
CCDC126	90693	broad.mit.edu	37	chr7	23682617	23682617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgattggtgaagctggagaaCaaagttgactatattgttgt	12	13	12	4	1	0	3	0	2	0	1	0	5	0	3	0	2	2	3	0	2	5	6			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:23682617C>G	ENST00000307471.3	+	4	763	c.306C>G	c.(304-306)aaC>aaG	p.N102K	CCDC126_ENST00000410069.1_Missense_Mutation_p.N102K|CCDC126_ENST00000409765.1_Missense_Mutation_p.N102K	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	102						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						AGCTGGAGAACAAAGTTGACT	0.393													4	121					0	0	0	0	G	23682617	C	G	23682617	3	3	59	1	0	0	0	0	1	0	0	0	2787	477	17	4	312	4	CCDC126	7	23682617	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08		23682617	135456046	27	11646											
STYXL1	51657	broad.mit.edu	37	chr7	75633097	75633097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgaagtgacacatgtggcGtaagaagggaagaatctggg	15	7	15	4	1	1	4	0	2	1	2	1	5	1	5	0	3	0	1	0	3	6	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:75633097G>A	ENST00000451157.1	-	7	845	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	STYXL1_ENST00000340062.5_Missense_Mutation_p.R130C|STYXL1_ENST00000359697.3_Missense_Mutation_p.R226C|STYXL1_ENST00000248600.1_Missense_Mutation_p.R226C|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Missense_Mutation_p.R226C			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	226	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CACATGTGGCGTAAGAAGGGA	0.557													23	80					0	0	0	0	A	75633097	G	A	75633097	3	1	59	1	0	0	0	0	1	0	0	0	15451	1145	40	1	277	1	STYXL1	7	75633097	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08	51950480	75633097	83505566	28	11647											
PCLO	27445	broad.mit.edu	37	chr7	82785121	82785121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgtttagtctgaggcctgGatgcatctcgttgaagtggc	6	13	13	9	1	2	2	0	2	2	0	3	3	2	3	2	3	1	3	2	3	2	3			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:82785121G>A	ENST00000423517.2	-	2	1173	c.836C>T	c.(835-837)tCc>tTc	p.S279F	PCLO_ENST00000333891.8_Missense_Mutation_p.S279F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	279	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGAGGCCTGGATGCATCTCG	0.478													50	64					0	0	0	0	A	82785121	G	A	82785121	3	1	59	1	0	0	0	0	1	0	0	0	11654	1174	41	2	14705	2	PCLO	7	82785121	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08	7152024	82785121	76353542	29	11648											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99128811	99128811	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcagacatggaactaTctggaaaaacccaaagaaat	20	5	8	8	0	1	3	0	0	1	3	1	5	1	5	1	2	3	1	1	2	7	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:99128811T>G	ENST00000394170.2	+	7	1710	c.1459T>G	c.(1459-1461)Tct>Gct	p.S487A	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.S487A|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.S487A	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	487					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CATGGAACTATCTGGAAAAAC	0.348													111	219					0	0	0	0	G	99128811	T	G	99128811	3	3	59	1	0	0	0	0	1	0	0	0	17785	1435	50	5	1481	5	ZKSCAN5	7	99128811	Missense_Mutation	SNP	T	TCGA-CN-4725-01A-01D-1434-08	16343690	99128811	60009852	30	11649											
ARHGEF35	445328	broad.mit.edu	37	chr7	143884371	143884371	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgcccgctgactgggAcccctttctcctttatacca	5	12	6	18	1	1	1	0	1	1	0	3	2	2	2	7	1	2	1	7	1	2	4			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:143884371A>G	ENST00000378115.2	-	2	1235	c.1106T>C	c.(1105-1107)gTc>gCc	p.V369A	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.V369A	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	369	Glu-rich.									kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						GCTGACTGGGACCCCTTTCTC	0.537													4	95					0	0	0	0	G	143884371	A	G	143884371	3	3	59	1	0	0	0	0	1	0	0	0	907	275	10	5	352	5	ARHGEF35	7	143884371	Missense_Mutation	SNP	A	TCGA-CN-4725-01A-01D-1434-08	44755560	143884371	15254292	31	11650											
ST3GAL1	6482	broad.mit.edu	37	chr8	134474117	134474117	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcagggggagggtggcataCctcatcgcagacatgcattg	9	7	16	9	1	1	1	1	0	0	1	2	2	1	2	1	5	2	4	1	5	1	2			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr8:134474117C>A	ENST00000319914.5	-	8	1877		c.e8+1		ST3GAL1_ENST00000521180.1_Splice_Site|ST3GAL1_ENST00000399640.2_Splice_Site|ST3GAL1_ENST00000522652.1_Splice_Site			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GGGTGGCATACCTCATCGCAG	0.597													99	164					1.9358e-47	2.19548e-47	1	0	A	134474117	C	A	134474117	5	1	59	1	0	0	0	0	0	0	1	0	15304	521	18	4	180	4	ST3GAL1	8	134474117	Splice_Site	SNP	C	TCGA-CN-4725-01A-01D-1434-08		134474117	11889905	32	11651											
APBA1	320	broad.mit.edu	37	chr9	72055946	72055946	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgaaaccgagctggtagCgaaggtctggtcttctgatt	8	11	13	9	3	3	2	0	2	3	0	3	4	3	2	1	3	3	3	1	3	3	3			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:72055946C>G	ENST00000265381.4	-	11	2489	c.2267G>C	c.(2266-2268)cGc>cCc	p.R756P		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	756	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GAGCTGGTAGCGAAGGTCTGG	0.453													32	234					0	0	0	0	G	72055946	C	G	72055946	3	3	59	1	0	0	0	0	1	0	0	0	757	768	27	3	258	3	APBA1	9	72055946	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08		72055946	69157485	33	11652											
SPTAN1	6709	broad.mit.edu	37	chr9	131346592	131346592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatcaccattcaggcccGccagttccaagatgctggcc	8	8	10	15	1	2	1	2	0	0	1	3	1	3	1	5	3	1	3	5	3	1	2	rs146412583		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:131346592G>A	ENST00000358161.5	+	17	2338	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	SPTAN1_ENST00000372731.4_Missense_Mutation_p.R742H|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R742H			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	742					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATTCAGGCCCGCCAGTTCCAA	0.483													4	91					0	0	0	0	A	131346592	G	A	131346592	3	1	59	1	0	0	0	0	1	0	0	0	15207	1087	38	1	2287	1	SPTAN1	9	131346592	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08	59290646	131346592	9866839	34	11653											
TTF1	7270	broad.mit.edu	37	chr9	135273709	135273709	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacttgccaaatttaatagcGacacctagaattgggaagga	16	9	9	7	1	0	1	0	0	0	1	0	4	0	3	2	2	3	0	2	2	7	6			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:135273709G>A	ENST00000334270.2	-	4	1635	c.1596C>T	c.(1594-1596)gtC>gtT	p.V532V		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	532					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ATTTAATAGCGACACCTAGAA	0.393													33	32					0	0	0	0	A	135273709	G	A	135273709	2	1	59	1	0	0	0	0	0	0	0	1	16814	1045	37	1		1	TTF1	9	135273709	Silent	SNP	G	TCGA-CN-4725-01A-01D-1434-08	3927117	135273709	5939722	35	11654											
SEC16A	9919	broad.mit.edu	37	chr9	139369094	139369094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggtaaagtctagggctcCgtaagtgtcttcctgatgac	10	12	11	8	1	2	2	0	2	2	0	4	2	4	2	2	2	0	3	2	2	5	5			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:139369094C>T	ENST00000313050.7	-	1	3047	c.2974G>A	c.(2974-2976)Gga>Aga	p.G992R	SEC16A_ENST00000371706.3_Missense_Mutation_p.G814R|SEC16A_ENST00000290037.6_Missense_Mutation_p.G814R|SEC16A_ENST00000431893.2_Missense_Mutation_p.G814R	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	814	Pro-rich.|Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCTAGGGCTCCGTAAGTGTCT	0.502													19	34					0	0	0	0	T	139369094	C	T	139369094	3	4	59	1	0	0	0	0	1	0	0	0	14073	661	23	1	4219	1	SEC16A	9	139369094	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08	4095385	139369094	1844337	36	11655											
MAN1B1	11253	broad.mit.edu	37	chr9	139995566	139995566	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggggctcctgagtgcCtaccacctgtctggggacag	5	8	16	12	0	1	1	0	1	1	0	2	2	2	2	4	5	2	1	4	5	1	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:139995566C>G	ENST00000371589.4	+	7	1099	c.1026C>G	c.(1024-1026)gcC>gcG	p.A342A	MAN1B1_ENST00000474902.1_Silent_p.A45A	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	342					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCCTGAGTGCCTACCACCTGT	0.552													60	117					0	0	0	0	G	139995566	C	G	139995566	2	3	59	1	0	0	0	0	0	0	0	1	9281	668	24	4		4	MAN1B1	9	139995566	Silent	SNP	C	TCGA-CN-4725-01A-01D-1434-08	626472	139995566	1217865	37	11656											
TMEM180	79847	broad.mit.edu	37	chr10	104230646	104230646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccctctcagcccacgaccGcacccacctcaacttctact	8	7	5	21	2	3	0	2	0	2	0	4	1	3	0	5	1	3	1	5	1	2	2			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr10:104230646G>A	ENST00000238936.4	+	5	713	c.476G>A	c.(475-477)cGc>cAc	p.R159H	TMEM180_ENST00000366277.2_Intron|TMEM180_ENST00000369931.3_Intron	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	159						integral to membrane		p.R159H(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCCCACGACCGCACCCACCTC	0.592													5	191					0	0	0	0	A	104230646	G	A	104230646	3	1	59	1	0	0	0	0	1	0	0	0	16193	1087	38	1	486	1	TMEM180	10	104230646	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08		104230646	31304101	38	11657											
PDZD8	118987	broad.mit.edu	37	chr10	119100522	119100522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacaacgtaactttaagacGgccttcagtaagtgcccatt	13	11	7	10	2	1	1	1	0	0	1	1	1	1	1	2	1	4	2	2	1	5	7			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr10:119100522G>A	ENST00000334464.5	-	2	1203	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	322					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACTTTAAGACGGCCTTCAGTA	0.378													3	75					0	0	0	0	A	119100522	G	A	119100522	3	1	59	1	0	0	0	0	1	0	0	0	11776	1116	39	1	2516	1	PDZD8	10	119100522	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08	14869876	119100522	16434225	39	11658											
GPR26	2849	broad.mit.edu	37	chr10	125426383	125426383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcttccaccagctgtacGcctcgtgcacgctgtgcagc	5	9	11	16	4	0	0	0	0	0	0	3	0	1	0	3	1	5	6	3	1	1	2			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr10:125426383G>A	ENST00000284674.1	+	1	513	c.460G>A	c.(460-462)Gcc>Acc	p.A154T		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	154					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCAGCTGTACGCCTCGTGCAC	0.701													8	14					0	0	0	0	A	125426383	G	A	125426383	3	1	59	1	0	0	0	0	1	0	0	0	6733	1087	38	1	462	1	GPR26	10	125426383	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08	6325861	125426383	10108364	40	11659											
OR8J3	81168	broad.mit.edu	37	chr11	55904719	55904719	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagaatatacaaggtgaaAccacaatagctgtagaaaag	20	6	9	6	0	0	3	0	1	0	2	0	4	0	3	1	1	3	2	1	1	10	4			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:55904719A>T	ENST00000301529.1	-	1	475	c.476T>A	c.(475-477)gTt>gAt	p.V159D		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACAAGGTGAAACCACAATAGC	0.423													5	163					0	0	0	0	T	55904719	A	T	55904719	3	4	59	1	0	0	0	0	1	0	0	0	11313	43	2	5	473	5	OR8J3	11	55904719	Missense_Mutation	SNP	A	TCGA-CN-4725-01A-01D-1434-08		55904719	79101797	41	11660											
ZFP91	80829	broad.mit.edu	37	chr11	58384695	58384695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgtggatttacttgtcGacaaaaggcatctcttaatt	11	15	8	7	1	2	0	0	0	2	0	4	3	2	1	0	2	1	1	0	2	4	5			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:58384695G>T	ENST00000316059.6	+	11	1400	c.1229G>T	c.(1228-1230)cGa>cTa	p.R410L	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R410L	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	410					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TTTACTTGTCGACAAAAGGCA	0.398													54	121					5.66675e-16	6.20009e-16	1	0	T	58384695	G	T	58384695	3	4	59	1	0	0	0	0	1	0	0	0	17750	1058	37	3	1271	3	ZFP91	11	58384695	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08	2479976	58384695	76621821	42	11661											
SCYL1	57410	broad.mit.edu	37	chr11	65298219	65298219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctgaccgccttcgagttCggcaatgctggggccgttgt	4	11	14	12	4	0	1	0	1	0	0	2	2	0	1	3	3	2	5	3	3	1	3			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:65298219C>T	ENST00000524944.1	+	7	1002	c.969C>T	c.(967-969)ttC>ttT	p.F323F	SCYL1_ENST00000270176.5_Silent_p.F323F|SCYL1_ENST00000420247.2_Silent_p.F323F|SCYL1_ENST00000527009.1_Silent_p.F180F|SCYL1_ENST00000279270.6_Silent_p.F323F|SCYL1_ENST00000525364.1_Silent_p.F323F|SCYL1_ENST00000527630.1_Silent_p.F323F|SCYL1_ENST00000533862.1_Silent_p.F323F			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	323					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CCTTCGAGTTCGGCAATGCTG	0.587													30	149					0	0	0	0	T	65298219	C	T	65298219	2	4	59	1	0	0	0	0	0	0	0	1	14034	883	31	1		1	SCYL1	11	65298219	Silent	SNP	C	TCGA-CN-4725-01A-01D-1434-08	6913524	65298219	69708297	43	11662											
DYNC2H1	79659	broad.mit.edu	37	chr11	102987416	102987416	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcattatcctgagtcaCgaatgttgcatctcttagac	11	14	7	9	1	3	3	2	2	1	1	5	4	4	3	1	0	1	2	1	0	3	3			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:102987416C>T	ENST00000375735.2	+	5	883	c.739C>T	c.(739-741)Cga>Tga	p.R247*	DYNC2H1_ENST00000334267.7_Nonsense_Mutation_p.R247*|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.R247*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	247	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCCTGAGTCACGAATGTTGCA	0.348													25	210					0	0	0	0	T	102987416	C	T	102987416	4	4	59	1	0	0	0	0	0	1	0	0	4882	528	19	1	757	1	DYNC2H1	11	102987416	Nonsense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08	37689197	102987416	32019100	44	11663											
LEPREL2	10536	broad.mit.edu	37	chr12	6940504	6940504	+	RNA	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagccgagacctggcctCggacccagagaggtaatccc	10	4	14	13	2	0	3	0	0	0	3	2	7	1	4	5	4	1	1	5	4	1	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr12:6940504C>A	ENST00000251761.8	+	0	1143				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						GACCTGGCCTCGGACCCAGAG	0.597													3	86					1	1	1	0	A	6940504	C	A	6940504	1	1	59	0	1	0	0	0	0	0	0	0	8784	871	31	3		3	LEPREL2	12	6940504	RNA	SNP	C	TCGA-CN-4725-01A-01D-1434-08		6940504	126911391	45	11664											
DENND5B	160518	broad.mit.edu	37	chr12	31586167	31586167	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgcgctgtgcagtggcactCcgacttacccagcgactgaa	8	8	11	14	3	0	1	0	1	0	0	1	3	1	1	2	1	4	3	2	1	2	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr12:31586167C>G	ENST00000389082.5	-	8	2292	c.2028G>C	c.(2026-2028)cgG>cgC	p.R676R	DENND5B_ENST00000306833.6_Silent_p.R711R|DENND5B_ENST00000536562.1_Silent_p.R711R|DENND5B_ENST00000354285.4_Silent_p.R698R	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	676						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAGTGGCACTCCGACTTACCC	0.448													5	274					0	0	0	0	G	31586167	C	G	31586167	2	3	59	1	0	0	0	0	0	0	0	1	4474	842	30	2		2	DENND5B	12	31586167	Silent	SNP	C	TCGA-CN-4725-01A-01D-1434-08	24645663	31586167	102265728	46	11665											
KDELC1	79070	broad.mit.edu	37	chr13	103441563	103441563	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccatcgatatttatttgAtacttatgctgcaaaacaat	13	15	6	7	1	0	1	0	1	0	0	1	2	0	1	1	0	5	2	1	0	7	6			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr13:103441563A>C	ENST00000376004.4	-	7	1428	c.1092T>G	c.(1090-1092)taT>taG	p.Y364*	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	364						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TATTTATTTGATACTTATGCT	0.393													4	72					0	0	0	0	C	103441563	A	C	103441563	4	2	59	1	0	0	0	0	0	1	0	0	8170	340	12	5	432	5	KDELC1	13	103441563	Nonsense_Mutation	SNP	A	TCGA-CN-4725-01A-01D-1434-08		103441563	11728315	47	11666											
C14orf37	145407	broad.mit.edu	37	chr14	58605804	58605804	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgggtttctttgttaatCgagaatgctttatttaatga	9	18	10	4	1	1	2	0	1	1	1	2	3	1	2	0	2	1	4	0	2	4	7			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr14:58605804C>T	ENST00000267485.7	-	2	467	c.273G>A	c.(271-273)tcG>tcA	p.S91S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	91						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTTTGTTAATCGAGAATGCTT	0.488													80	143					0	0	0	0	T	58605804	C	T	58605804	2	4	59	1	0	0	0	0	0	0	0	1	1783	871	31	1		1	C14orf37	14	58605804	Silent	SNP	C	TCGA-CN-4725-01A-01D-1434-08		58605804	48743736	48	11667											
LTBP2	4053	broad.mit.edu	37	chr14	74968148	74968148	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaattctgcacttacctacGcaggccatgtgggccgcatc	9	9	10	13	2	1	1	0	0	1	1	2	1	1	1	3	2	3	3	3	2	3	3			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr14:74968148G>A	ENST00000261978.4	-	35	5702	c.5316C>T	c.(5314-5316)tgC>tgT	p.C1772C	LTBP2_ENST00000556690.1_Silent_p.C1728C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1772	EGF-like 19; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACTTACCTACGCAGGCCATGT	0.607											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	100	165					0	0	0	0	A	74968148	G	A	74968148	2	1	59	1	0	0	0	0	0	0	0	1	9138	1079	38	1		1	LTBP2	14	74968148	Silent	SNP	G	TCGA-CN-4725-01A-01D-1434-08	16362344	74968148	32381392	49	11668											
OR4M2	390538	broad.mit.edu	37	chr15	22369030	22369030	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctctctcctggaggggggGcttcattcattctatcatac	6	13	11	11	0	5	0	3	0	2	0	7	1	6	1	1	5	1	2	1	5	2	5			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:22369030G>C	ENST00000332663.2	+	1	553	c.455G>C	c.(454-456)gGc>gCc	p.G152A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGAGGGGGGGCTTCATTCAT	0.502													73	382					0	0	0	0	C	22369030	G	C	22369030	3	2	59	1	0	0	0	0	1	0	0	0	11147	1203	42	4	457	4	OR4M2	15	22369030	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08		22369030	80162362	50	11669											
RTF1	23168	broad.mit.edu	37	chr15	41769670	41769670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagttacatcaaccagcGgaaccgggagtggaacattg	13	6	11	11	2	1	0	1	0	0	0	1	3	1	3	3	3	5	1	3	3	4	2			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:41769670G>A	ENST00000389629.4	+	14	1709	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	566					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ATCAACCAGCGGAACCGGGAG	0.453													36	115					0	0	0	0	A	41769670	G	A	41769670	3	1	59	1	0	0	0	0	1	0	0	0	13806	1116	39	1	1751	1	RTF1	15	41769670	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08	19400640	41769670	60761722	51	11670											
SERF2	10169	broad.mit.edu	37	chr15	44085984	44085984	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtagctttgtggcttcGtgtccaaccctcttgccctt	5	14	8	14	1	1	0	0	0	1	0	3	0	2	0	4	1	3	3	4	1	3	5			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:44085984G>A	ENST00000409960.2	+	3	374	c.327G>A	c.(325-327)tcG>tcA	p.S109S	SERF2_ENST00000381359.1_3'UTR|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000402131.1_3'UTR|SERF2_ENST00000403425.1_3'UTR|SERF2_ENST00000409614.1_3'UTR|SERF2_ENST00000339624.5_Silent_p.S72S|SERF2_ENST00000249786.4_3'UTR|SERF2_ENST00000409646.1_Intron|RP11-296A16.1_ENST00000417761.2_Intron	NM_001199875.1	NP_001186804.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	0						cytosol|nucleus				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		TTGTGGCTTCGTGTCCAACCC	0.577													24	78					0	0	0	0	A	44085984	G	A	44085984	2	1	59	1	0	0	0	0	0	0	0	1	14163	1160	40	1		1	SERF2	15	44085984	Silent	SNP	G	TCGA-CN-4725-01A-01D-1434-08	2316314	44085984	58445408	52	11671											
THAP10	56906	broad.mit.edu	37	chr15	71175199	71175199	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgaagtgacagtattagatgGattatcagcatggggttggg	11	12	15	3	0	1	3	1	2	0	1	1	4	1	4	0	4	1	3	0	4	4	4			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:71175199G>C	ENST00000249861.4	-	2	990	c.478C>G	c.(478-480)Cca>Gca	p.P160A	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	160							DNA binding|metal ion binding			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTATTAGATGGATTATCAGCA	0.393													29	117					0	0	0	0	C	71175199	G	C	71175199	3	2	59	1	0	0	0	0	1	0	0	0	15936	1174	41	2	303	2	THAP10	15	71175199	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08	27089215	71175199	31356193	53	11672											
SLC28A1	9154	broad.mit.edu	37	chr15	85447466	85447466	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgctcaaagcatcattgCgcagtgagtgctagttgtgg	8	11	13	9	1	2	1	2	1	0	0	2	1	2	1	1	1	4	5	1	1	2	3			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:85447466C>T	ENST00000394573.1	+	7	802	c.600C>T	c.(598-600)tgC>tgT	p.C200C	SLC28A1_ENST00000538177.1_Silent_p.C200C|SLC28A1_ENST00000537624.1_Silent_p.C200C|SLC28A1_ENST00000286749.3_Silent_p.C200C|SLC28A1_ENST00000537703.1_Silent_p.C122C|SLC28A1_ENST00000537216.1_Silent_p.C200C	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	200					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCATCATTGCGCAGTGAGTG	0.587													83	60					0	0	0	0	T	85447466	C	T	85447466	2	4	59	1	0	0	0	0	0	0	0	1	14619	776	27	1		1	SLC28A1	15	85447466	Silent	SNP	C	TCGA-CN-4725-01A-01D-1434-08	14272267	85447466	17083926	54	11673											
KLHL25	64410	broad.mit.edu	37	chr15	86311486	86311486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcatgtccccaatccgcGtccactggttggtctcacag	7	10	9	15	2	2	0	2	0	1	0	6	0	5	0	4	2	0	1	4	2	1	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:86311486G>A	ENST00000337975.5	-	2	1830	c.1556C>T	c.(1555-1557)aCg>aTg	p.T519M	KLHL25_ENST00000536947.1_Missense_Mutation_p.T519M|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	519						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCCAATCCGCGTCCACTGGTT	0.612													29	91					0	0	0	0	A	86311486	G	A	86311486	3	1	59	1	0	0	0	0	1	0	0	0	8432	1145	40	1	217	1	KLHL25	15	86311486	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08	864020	86311486	16219906	55	11674											
ZG16B	124220	broad.mit.edu	37	chr16	2880459	2880459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgctgctgctgctcaCgcttgccctcctggggggcc	2	9	14	16	1	1	0	1	0	0	0	2	0	2	0	4	4	5	5	4	4	0	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:2880459C>T	ENST00000382280.3	+	2	204	c.125C>T	c.(124-126)aCg>aTg	p.T42M	ZG16B_ENST00000572863.1_Missense_Mutation_p.T12M	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	42	Poly-Leu.					extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CTGCTGCTCACGCTTGCCCTC	0.662													14	14					0	0	0	0	T	2880459	C	T	2880459	3	4	59	1	0	0	0	0	1	0	0	0	17767	536	19	1	131	1	ZG16B	16	2880459	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08		2880459	87474294	56	11675											
VASN	114990	broad.mit.edu	37	chr16	4432462	4432462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcacccagctgcggcccaaCgccacttactccgtctgtgt	6	9	9	17	3	2	0	1	0	1	0	3	0	3	0	4	1	4	1	4	1	2	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:4432462C>T	ENST00000304735.3	+	2	1739	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	CORO7_ENST00000574025.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000537233.2_Intron|CORO7-PAM16_ENST00000572467.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	528	Fibronectin type-III.					extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						TGCGGCCCAACGCCACTTACT	0.677													10	9					0	0	0	0	T	4432462	C	T	4432462	2	4	59	1	0	0	0	0	0	0	0	1	17223	535	19	1		1	VASN	16	4432462	Silent	SNP	C	TCGA-CN-4725-01A-01D-1434-08	1552003	4432462	85922291	57	11676											
CLEC16A	23274	broad.mit.edu	37	chr16	11114077	11114077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggtgatcatggagcgtaGcaagctctcagagctggccg	9	8	15	9	2	2	2	2	1	1	1	3	4	2	3	1	3	4	4	1	3	2	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:11114077G>A	ENST00000409790.1	+	12	1561	c.1331G>A	c.(1330-1332)aGc>aAc	p.S444N	CLEC16A_ENST00000409552.3_Missense_Mutation_p.S426N	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	444								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATGGAGCGTAGCAAGCTCTCA	0.557													25	58					0	0	0	0	A	11114077	G	A	11114077	3	1	59	1	0	0	0	0	1	0	0	0	3530	971	34	4	1373	4	CLEC16A	16	11114077	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08	6681615	11114077	79240676	58	11677											
PALB2	79728	broad.mit.edu	37	chr16	23646536	23646536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttttacttgcatccttaTttttatttttaaaccctttt	9	24	1	7	0	0	0	0	0	0	0	1	0	1	0	2	0	3	1	2	0	6	13			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:23646536T>C	ENST00000261584.4	-	4	1483	c.1331A>G	c.(1330-1332)aAt>aGt	p.N444S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	444					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGCATCCTTATTTTTATTTTT	0.393			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					75	139					0	0	0	0	C	23646536	T	C	23646536	3	2	59	1	0	0	0	0	1	0	0	0	11477	1493	52	5	2269	5	PALB2	16	23646536	Missense_Mutation	SNP	T	TCGA-CN-4725-01A-01D-1434-08	12532459	23646536	66708217	59	11678											
TNRC6A	27327	broad.mit.edu	37	chr16	24834933	24834933	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagccggaccgatctcaaTcactggaatggtgctgggct	8	9	12	12	2	2	0	2	0	1	0	4	3	3	2	3	4	2	2	3	4	2	0			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:24834933T>A	ENST00000395799.3	+	25	5823	c.5694T>A	c.(5692-5694)aaT>aaA	p.N1898K	TNRC6A_ENST00000432286.2_Missense_Mutation_p.N376K|TNRC6A_ENST00000315183.7_Missense_Mutation_p.N1849K	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1898	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CCGATCTCAATCACTGGAATG	0.622													147	287					0	0	0	0	A	24834933	T	A	24834933	3	1	59	1	0	0	0	0	1	0	0	0	16434	1432	50	5	5792	5	TNRC6A	16	24834933	Missense_Mutation	SNP	T	TCGA-CN-4725-01A-01D-1434-08	1188397	24834933	65519820	60	11679											
TP53	7157	broad.mit.edu	37	chr17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctcccaggacaggcaCaaacacgcacctcaaagctg	12	5	9	15	1	2	0	1	0	1	0	4	1	3	1	2	3	2	3	2	3	2	0			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr17:7577114C>A	ENST00000420246.2	-	8	956	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGACAGGCACAAACACGCAC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	35					6.40141e-05	6.84289e-05	1	0	A	7577114	C	A	7577114	3	1	59	1	0	0	0	0	1	0	0	0	16476	478	17	4	462	4	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08		7577114	73618096	61	11680											
SUPT6H	6830	broad.mit.edu	37	chr17	27017143	27017143	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctatgacatccgggcagAgctgagctgtcgatataagg	11	9	12	9	2	1	3	0	2	1	1	3	4	2	3	1	2	2	3	1	2	3	3			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr17:27017143A>C	ENST00000314616.6	+	26	3669	c.3386A>C	c.(3385-3387)gAg>gCg	p.E1129A	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E1129A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1129					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ATCCGGGCAGAGCTGAGCTGT	0.522													126	143					0	0	0	0	C	27017143	A	C	27017143	3	2	59	1	0	0	0	0	1	0	0	0	15490	304	11	5	3484	5	SUPT6H	17	27017143	Missense_Mutation	SNP	A	TCGA-CN-4725-01A-01D-1434-08	19440029	27017143	54178067	62	11681											
SPOP	8405	broad.mit.edu	37	chr17	47700125	47700126	+	Frame_Shift_Ins	INS	-	-	CCAC																															accaactctcagctacggggINSccactcgacatttctgccgg																										TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr17:47700125_47700126insCCAC	ENST00000393331.3	-	4	517_518	c.47_48insGTGG	c.(46-48)gccfs	p.A16fs	SPOP_ENST00000347630.2_Frame_Shift_Ins_p.A16fs|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Frame_Shift_Ins_p.A16fs|SPOP_ENST00000504102.1_Frame_Shift_Ins_p.A16fs|SPOP_ENST00000393328.2_Frame_Shift_Ins_p.A16fs	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	16					mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGCTACGGGGCCACTCGACAT	0.495										Prostate(2;0.17)			26	266	---	---	---	---					CCAC	47700126	-	CCAC	47700125	7	5	59	1	0	1	1	0	0	0	0	0	15174	1190	42	0	1112	0	SPOP	17	47700125	Frame_Shift_Ins	INS	-	TCGA-CN-4725-01A-01D-1434-08	20682982	47700125	33495085	63	11682											
TUBB6	84617	broad.mit.edu	37	chr18	12325401	12325401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacctactgcatcgacaacGaggcgctctatgacatctgc	11	8	9	13	3	2	2	0	1	2	1	3	4	2	2	1	1	4	2	1	1	3	2			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr18:12325401G>A	ENST00000317702.5	+	4	847	c.613G>A	c.(613-615)Gag>Aag	p.E205K	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	205					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CATCGACAACGAGGCGCTCTA	0.602													38	208					0	0	0	0	A	12325401	G	A	12325401	3	1	59	1	0	0	0	0	1	0	0	0	16856	1059	37	1	627	1	TUBB6	18	12325401	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08		12325401	65751847	64	11683											
ZNF791	163049	broad.mit.edu	37	chr19	12740051	12740051	+	Frame_Shift_Del	DEL	C	C	-																															tgtccacatccttaaaaaaaCatatgagaatgcacaatcga																										TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr19:12740051delC	ENST00000343325.4	+	4	1870	c.1708delC	c.(1708-1710)atfs	p.H570fs	ZNF791_ENST00000458122.3_Frame_Shift_Del_p.H538fs|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Frame_Shift_Del_p.H461fs|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CTTAAAAAAACATATGAGAAT	0.338													26	92	---	---	---	---					-	12740051	C	-	12740051	7	5	59	1	0	1	0	1	0	0	0	0	18256	478	17	0	1722	0	ZNF791	19	12740051	Frame_Shift_Del	DEL	C	TCGA-CN-4725-01A-01D-1434-08		12740051	46388932	65	11684											
UPF1	5976	broad.mit.edu	37	chr19	18968194	18968194	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagaaggcggccaaggcCgggctgtcacagtcgctctt	8	7	14	12	3	2	1	1	0	1	1	3	1	2	1	2	4	1	3	2	4	3	1			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr19:18968194C>T	ENST00000262803.5	+	15	2306	c.2034C>T	c.(2032-2034)gcC>gcT	p.A678A	UPF1_ENST00000599848.1_Silent_p.A689A	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	689					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGGCCAAGGCCGGGCTGTCAC	0.647													32	105					0	0	0	0	T	18968194	C	T	18968194	2	4	59	1	0	0	0	0	0	0	0	1	17099	639	23	1		1	UPF1	19	18968194	Silent	SNP	C	TCGA-CN-4725-01A-01D-1434-08	6228143	18968194	40160789	66	11685											
ZNF737	100129842	broad.mit.edu	37	chr19	20727463	20727463	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggggcacttaaagccttTgccacattcttcacatttgt	10	13	8	10	0	2	1	1	0	1	1	2	1	2	1	2	2	2	1	2	2	2	5	rs10411329	by1000genomes	TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr19:20727463T>C	ENST00000427401.4	-	4	1640	c.1546A>G	c.(1546-1548)Aaa>Gaa	p.K516E		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	516					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTAAAGCCTTTGCCACATTCT	0.403													3	55					0	0	0	0	C	20727463	T	C	20727463	3	2	59	1	0	0	0	0	1	0	0	0	18220	1821	63	5	68	5	ZNF737	19	20727463	Missense_Mutation	SNP	T	TCGA-CN-4725-01A-01D-1434-08	1759269	20727463	38401520	67	11686											
PVR	5817	broad.mit.edu	37	chr19	45162189	45162189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcatcaccagagctgcCgtaattgagcacctactacg	11	8	10	12	2	1	3	1	2	0	1	1	3	1	3	3	0	6	4	3	0	3	4	rs35385129	by1000genomes	TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr19:45162189C>A	ENST00000406449.4	+	6	1171	c.1171C>A	c.(1171-1173)Cgt>Agt	p.R391S	PVR_ENST00000403059.4_Intron|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000425690.3_Intron|PVR_ENST00000344956.4_Intron	NM_001135770.1	NP_001129242.1	P15151	PVR_HUMAN	poliovirus receptor	0					adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCagagctgccgtaattgagc	0.532													3	32					0.115264	0.116517	1	0	A	45162189	C	A	45162189	3	1	59	1	0	0	0	0	1	0	0	0	12919	652	23	3	1193	3	PVR	19	45162189	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08	24434726	45162189	13966794	68	11687											
MMP9	4318	broad.mit.edu	37	chr20	44641091	44641091	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttgttcctcgtggcggcGcatgagttcggccacgcgct	4	11	14	12	6	0	1	0	1	0	0	3	1	1	1	2	3	0	5	2	3	0	3			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr20:44641091G>A	ENST00000372330.3	+	8	1219	c.1200G>A	c.(1198-1200)gcG>gcA	p.A400A		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	400					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TCGTGGCGGCGCATGAGTTCG	0.652													85	81					0	0	0	0	A	44641091	G	A	44641091	2	1	59	1	0	0	0	0	0	0	0	1	9739	1074	38	1		1	MMP9	20	44641091	Silent	SNP	G	TCGA-CN-4725-01A-01D-1434-08		44641091	18384429	69	11688											
LAMA5	3911	broad.mit.edu	37	chr20	60900576	60900576	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgcgggacacagtgttGcgcgtctccgtatgccggaa	6	9	13	13	6	1	0	0	0	1	0	4	2	2	2	3	2	2	2	3	2	2	2			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr20:60900576G>T	ENST00000252999.3	-	41	5391	c.5325C>A	c.(5323-5325)cgC>cgA	p.R1775R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1775	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACAGTGTTGCGCGTCTCCG	0.622													49	52					2.74695e-27	3.04127e-27	1	0	T	60900576	G	T	60900576	2	4	59	1	0	0	0	0	0	0	0	1	8662	1306	46	4		4	LAMA5	20	60900576	Silent	SNP	G	TCGA-CN-4725-01A-01D-1434-08	16259485	60900576	2124944	70	11689											
ZBTB46	140685	broad.mit.edu	37	chr20	62421367	62421367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagttctgtactgcaccGtccttggcagaaggcagctc	10	9	11	11	1	1	2	0	0	1	2	3	2	2	2	2	2	3	6	2	2	3	3			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr20:62421367G>A	ENST00000245663.4	-	2	894	c.744C>T	c.(742-744)gaC>gaT	p.D248D	ZBTB46_ENST00000395104.1_Silent_p.D248D|ZBTB46_ENST00000302995.2_Silent_p.D248D	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTACTGCACCGTCCTTGGCAG	0.587													59	110					0	0	0	0	A	62421367	G	A	62421367	2	1	59	1	0	0	0	0	0	0	0	1	17642	1136	40	1		1	ZBTB46	20	62421367	Silent	SNP	G	TCGA-CN-4725-01A-01D-1434-08	1520791	62421367	604153	71	11690											
SIK1	150094	broad.mit.edu	37	chr21	44837482	44837482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggctgccggctgcgccGccgtgcaggcctgggctctg	1	7	16	17	5	1	0	0	0	1	0	2	0	2	0	5	4	3	4	5	4	0	0			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr21:44837482G>A	ENST00000270162.6	-	13	2049	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	639					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CGGCTGCGCCGCCGTGCAGGC	0.771													10	17					0	0	0	0	A	44837482	G	A	44837482	2	1	59	1	0	0	0	0	0	0	0	1	14405	1074	38	1		1	SIK1	21	44837482	Silent	SNP	G	TCGA-CN-4725-01A-01D-1434-08		44837482	3292413	72	11691											
TBC1D10A	83874	broad.mit.edu	37	chr22	30688463	30688478	+	Frame_Shift_Del	DEL	GGGGGCTGAGTCCTTC	GGGGGCTGAGTCCTTC	-																															tcctgaggggctgagtccttGggggctgagtccttcggggg																								rs146725573	byFrequency	TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr22:30688463_30688478delGGGGGCTGAGTCCTTC	ENST00000215790.7	-	9	1577_1592	c.1413_1428delGAAGGACTCAGCCCCC	c.(1411-1428)ccfs	p.PKDSAP471fs	RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Frame_Shift_Del_p.PKDSAP478fs|TBC1D10A_ENST00000403362.1_Frame_Shift_Del_p.PKDSAP383fs	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	471						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTGAGTCCTTGGGGGCTGAGTCCTTCGGGGGCACAT	0.62													44	288	---	---	---	---					-	30688478	GGGGGCTGAGTCCTTC	-	30688463	7	5	59	1	0	1	0	1	0	0	0	0	15689	1335	47	0	102	0	TBC1D10A	22	30688463	Frame_Shift_Del	DEL	GGGGGCTGAGTCCTTC	TCGA-CN-4725-01A-01D-1434-08		30688463	20616103	73	11692											
MED12	9968	broad.mit.edu	37	chrX	70356303	70356303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacacacacctgaggccccGgccccgcgcctattacctgg	7	5	9	20	3	0	1	0	1	0	0	0	1	0	1	8	3	1	0	8	3	2	2			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chrX:70356303G>A	ENST00000333646.6	+	37	5397	c.5198G>A	c.(5197-5199)cGg>cAg	p.R1733Q	MED12_ENST00000374102.1_Missense_Mutation_p.R1733Q|MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Missense_Mutation_p.R1733Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1733	Interaction with CTNNB1 and GLI3.|Pro-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTGAGGCCCCGGCCCCGCGCC	0.642			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						14	4					0	0	0	0	A	70356303	G	A	70356303	3	1	59	1	0	0	0	0	1	0	0	0	9497	1116	39	1	5344	1	MED12	23	70356303	Missense_Mutation	SNP	G	TCGA-CN-4725-01A-01D-1434-08		70356303	84914257	74	11693											
LRCH2	57631	broad.mit.edu	37	chrX	114357668	114357668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagttgtcgtatttgctctCgctcttcccgtaaatgttcc	6	16	8	11	3	2	0	0	0	2	0	6	1	4	0	2	0	1	6	2	0	4	6			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chrX:114357668C>T	ENST00000317135.8	-	18	1967	c.1937G>A	c.(1936-1938)cGa>cAa	p.R646Q	LRCH2_ENST00000538422.1_Missense_Mutation_p.R629Q	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	646	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TATTTGCTCTCGCTCTTCCCG	0.408													14	13					0	0	0	0	T	114357668	C	T	114357668	3	4	59	1	0	0	0	0	1	0	0	0	8997	884	31	1	376	1	LRCH2	23	114357668	Missense_Mutation	SNP	C	TCGA-CN-4725-01A-01D-1434-08	44001365	114357668	40912892	75	11694											
FAM58A	92002	broad.mit.edu	37	chrX	152864477	152864478	+	Splice_Site	INS	-	-	C																															ctggcttcgggcgccggctgINSccctccgggccccgcgctgc																										TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chrX:152864477_152864478insC	ENST00000406277.2	-	2	152_153	c.51_splice	c.e2+1	p.A17_splice	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	18					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCCGGCTGCCCTCCGGGCC	0.782													6	4	---	---	---	---					C	152864478	-	C	152864477	8	5	59	1	0	1	1	0	0	0	1	0	5636	1319	46	0	711	0	FAM58A	23	152864477	Splice_Site	INS	-	TCGA-CN-4725-01A-01D-1434-08	38506809	152864477	2406083	76	11695											
EPHA2	1969	broad.mit.edu	37	chr1	16461022	16461023	+	Frame_Shift_Ins	INS	-	-	A																															gcaggaccacaccgacagccINSacgccgccaatcaccgccaa																										TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:16461022_16461023insA	ENST00000358432.5	-	8	1776_1777	c.1622_1623insT	c.(1621-1623)ggcfs	p.G541fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	541					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CACCGACAGCCACGCCGCCAAT	0.594													18	57	---	---	---	---					A	16461023	-	A	16461022	7	5	60	1	0	1	1	0	0	0	0	0	5205	581	21	0	1347	0	EPHA2	1	16461022	Frame_Shift_Ins	INS	-	TCGA-CN-4726-01A-01D-1434-08		16461022	232789599	1	11696											
RLF	6018	broad.mit.edu	37	chr1	40668129	40668129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttcctttctgcaaatgcGaataaaacatttgttgaaat	14	14	5	8	1	1	1	0	1	1	0	2	2	2	1	2	0	3	2	2	0	5	5			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:40668129G>A	ENST00000372771.4	+	5	680	c.653G>A	c.(652-654)cGa>cAa	p.R218Q		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	218					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CTGCAAATGCGAATAAAACAT	0.333													21	88					0	0	0	0	A	40668129	G	A	40668129	3	1	60	1	0	0	0	0	1	0	0	0	13474	1058	37	1	671	1	RLF	1	40668129	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	24207107	40668129	208582492	2	11697											
MSH4	4438	broad.mit.edu	37	chr1	76378560	76378560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaacaagttccagaaaaGactgaagaataatcacaatt	20	8	6	7	0	1	5	1	2	0	3	2	5	2	5	1	0	1	1	1	0	8	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:76378560G>T	ENST00000263187.3	+	20	2903	c.2799G>T	c.(2797-2799)aaG>aaT	p.K933N		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	933					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCCAGAAAAGACTGAAGAAT	0.303								Mismatch excision repair (MMR)					9	38					1.33987e-11	1.60073e-11	1	0	T	76378560	G	T	76378560	3	4	60	1	0	0	0	0	1	0	0	0	9942	933	33	2	2877	2	MSH4	1	76378560	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	35710431	76378560	172872061	3	11698											
GBP7	388646	broad.mit.edu	37	chr1	89618020	89618020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgtccatctaacttcagctCcagggtaaaatctcgaacag	12	10	8	11	1	3	0	1	0	2	0	6	1	5	0	2	1	3	2	2	1	4	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:89618020C>T	ENST00000294671.2	-	5	694	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	186						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AACTTCAGCTCCAGGGTAAAA	0.478													6	227					0	0	0	0	T	89618020	C	T	89618020	3	4	60	1	0	0	0	0	1	0	0	0	6328	864	30	2	1388	2	GBP7	1	89618020	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08	13239460	89618020	159632601	4	11699											
NOTCH2	4853	broad.mit.edu	37	chr1	120510064	120510064	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcccatttacctggcatgCacagacatgtgaagcctcca	10	8	10	13	0	0	2	0	1	0	1	1	2	1	2	4	2	3	2	4	2	2	2			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:120510064C>G	ENST00000256646.2	-	8	1664	c.1445G>C	c.(1444-1446)tGc>tCc	p.C482S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	482	EGF-like 12; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.C482F(1)		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)		ACCTGGCATGCACAGACATGT	0.488			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				85	247					0	0	0	0	G	120510064	C	G	120510064	3	3	60	1	0	0	0	0	1	0	0	0	10618	710	25	4	6078	4	NOTCH2	1	120510064	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08	30892044	120510064	128740557	5	11700											
PSMD4	5710	broad.mit.edu	37	chr1	151238835	151238835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccagcaagagtttggccGcactgggcttcctgacctaa	9	8	11	13	1	0	2	0	1	0	1	1	2	1	2	4	2	2	4	4	2	2	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:151238835G>A	ENST00000368884.3	+	8	895	c.815G>A	c.(814-816)cGc>cAc	p.R272H	PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	272					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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 transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTTGGCCGCACTGGGCTT	0.547													5	228					0	0	0	0	A	151238835	G	A	151238835	3	1	60	1	0	0	0	0	1	0	0	0	12779	1087	38	1	845	1	PSMD4	1	151238835	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	30728771	151238835	98011786	6	11701											
ZNF687	57592	broad.mit.edu	37	chr1	151260750	151260750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgctctccacagagccGcctgctgccccggccacctc	4	6	9	22	3	1	1	0	0	1	1	3	1	1	1	8	1	4	2	8	1	0	0			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:151260750G>A	ENST00000368879.2	+	2	2081	c.1983G>A	c.(1981-1983)ccG>ccA	p.P661P		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCACAGAGCCGCCTGCTGCCC	0.637													18	54					0	0	0	0	A	151260750	G	A	151260750	2	1	60	1	0	0	0	0	0	0	0	1	18187	1074	38	1		1	ZNF687	1	151260750	Silent	SNP	G	TCGA-CN-4726-01A-01D-1434-08	21915	151260750	97989871	7	11702											
RC3H1	149041	broad.mit.edu	37	chr1	173934116	173934116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatacaattccatttggcaGagcaggaggttttctgctag	10	13	11	7	0	1	2	0	1	1	1	2	3	2	3	1	3	3	4	1	3	3	6			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:173934116G>T	ENST00000367696.2	-	10	1828	c.1477C>A	c.(1477-1479)Ctg>Atg	p.L493M	RC3H1_ENST00000258349.4_Missense_Mutation_p.L493M|RC3H1_ENST00000367694.2_Missense_Mutation_p.L493M			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	493					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CCATTTGGCAGAGCAGGAGGT	0.483													59	150					2.79145e-41	3.58901e-41	1	0	T	173934116	G	T	173934116	3	4	60	1	0	0	0	0	1	0	0	0	13248	933	33	2	1968	2	RC3H1	1	173934116	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	22673366	173934116	75316505	8	11703											
DHX9	1660	broad.mit.edu	37	chr1	182827949	182827949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcagcgacaaaaccaagtgGgtgtggttccttggtcacct	9	10	11	11	1	2	0	2	0	0	0	3	1	3	0	3	3	2	1	3	3	3	2			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:182827949G>A	ENST00000367549.3	+	10	1092	c.982G>A	c.(982-984)Ggt>Agt	p.G328S		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	328					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAACCAAGTGGGTGTGGTTCC	0.438													48	127					0	0	0	0	A	182827949	G	A	182827949	3	1	60	1	0	0	0	0	1	0	0	0	4553	1232	43	4	1016	4	DHX9	1	182827949	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	8893833	182827949	66422672	9	11704											
OBSCN	84033	broad.mit.edu	37	chr1	228480267	228480267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgaaaaaccaggaggcCagagaaggggccacagctgt	14	4	15	8	0	0	2	0	1	0	1	0	5	0	3	3	4	2	1	3	4	3	0			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:228480267C>T	ENST00000570156.2	+	45	12008	c.11934C>T	c.(11932-11934)gcC>gcT	p.A3978A	OBSCN_ENST00000366709.4_Silent_p.A668A|OBSCN_ENST00000359599.6_Silent_p.A2396A|OBSCN_ENST00000422127.1_Silent_p.A3549A|OBSCN_ENST00000366707.4_Silent_p.A668A|OBSCN_ENST00000284548.11_Silent_p.A3549A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3016	Ig-like 41.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCAGGAGGCCAGAGAAGGGG	0.552													4	216					0	0	0	0	T	228480267	C	T	228480267	2	4	60	1	0	0	0	0	0	0	0	1	10883	581	21	4		4	OBSCN	1	228480267	Silent	SNP	C	TCGA-CN-4726-01A-01D-1434-08	45652318	228480267	20770354	10	11705											
AGBL5	60509	broad.mit.edu	37	chr2	27278581	27278581	+	Missense_Mutation	SNP	C	C	A																															gtggagtgaatctgaaccgtCagtacctgaagcctgatgcc																										TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:27278581C>A	ENST00000360131.4	+	7	1099	c.940C>A	c.(940-942)Cag>Aag	p.Q314K	AGBL5_ENST00000323064.8_Missense_Mutation_p.Q314K	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	314					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGAACCGTCAGTACCTGAA	0.537													24	134					1.55469e-16	1.90803e-16	1	0	A	27278581	C	A	27278581	3	1	60	1	0	0	0	0	1	0	0	0	378	827	29	2	962	2	AGBL5	2	27278581	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08		27278581	215920792	11	11706	100	2									
AGBL5	60509	broad.mit.edu	37	chr2	27278587	27278587	+	Silent	SNP	C	C	T																															tgaatctgaaccgtcagtacCtgaagcctgatgccgtcctg																										TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:27278587C>T	ENST00000360131.4	+	7	1105	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L	AGBL5_ENST00000323064.8_Silent_p.L316L	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	316					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGTCAGTACCTGAAGCCTGA	0.542													25	137					0	0	0	0	T	27278587	C	T	27278587	2	4	60	1	0	0	0	0	0	0	0	1	378	680	24	4		4	AGBL5	2	27278587	Silent	SNP	C	TCGA-CN-4726-01A-01D-1434-08	6	27278587	215920786	12	11707	100	2									
FSHR	2492	broad.mit.edu	37	chr2	49190547	49190547	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagctgcatggcatgcgtGatggtatgccatctttccaa	8	12	10	11	1	1	1	0	1	1	0	3	1	3	1	3	2	4	4	3	2	2	2			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:49190547G>T	ENST00000406846.2	-	10	1532	c.1413C>A	c.(1411-1413)atC>atA	p.I471I	FSHR_ENST00000541117.1_Silent_p.I207I|FSHR_ENST00000304421.4_Silent_p.I445I|FSHR_ENST00000346173.3_Silent_p.I409I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	471					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGGCATGCGTGATGGTATGCC	0.542									Gonadal Dysgenesis, 46 XX				16	46					6.31663e-08	7.22665e-08	1	0	T	49190547	G	T	49190547	2	4	60	1	0	0	0	0	0	0	0	1	6121	1280	45	2		2	FSHR	2	49190547	Silent	SNP	G	TCGA-CN-4726-01A-01D-1434-08	21911960	49190547	194008826	13	11708											
APLF	200558	broad.mit.edu	37	chr2	68740274	68740274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaaaatcccccgtgattaAtttacctcatgagactactg	13	11	5	12	1	1	2	1	2	0	1	2	3	2	2	4	0	2	0	4	0	5	4			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:68740274A>G	ENST00000303795.4	+	4	575	c.404A>G	c.(403-405)aAt>aGt	p.N135S		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	135					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CCCGTGATTAATTTACCTCAT	0.358													55	126					0	0	0	0	G	68740274	A	G	68740274	3	3	60	1	0	0	0	0	1	0	0	0	777	101	4	5	418	5	APLF	2	68740274	Missense_Mutation	SNP	A	TCGA-CN-4726-01A-01D-1434-08	19549727	68740274	174459099	14	11709											
CTNNA2	1496	broad.mit.edu	37	chr2	80620389	80620389	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgcgattgataagatgacTaagaaaacaagagatctaag	19	9	9	4	1	1	5	0	2	1	3	1	7	1	5	0	0	2	0	0	0	6	5			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:80620389T>C	ENST00000466387.1	+	12	1834	c.1110T>C	c.(1108-1110)acT>acC	p.T370T	CTNNA2_ENST00000541047.1_Silent_p.T370T|CTNNA2_ENST00000361291.4_Silent_p.T404T|CTNNA2_ENST00000496558.1_Silent_p.T370T|CTNNA2_ENST00000343114.3_Silent_p.T49T|CTNNA2_ENST00000540488.1_Silent_p.T370T|CTNNA2_ENST00000402739.4_Silent_p.T370T			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	370					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATAAGATGACTAAGAAAACAA	0.318													56	158					0	0	0	0	C	80620389	T	C	80620389	2	2	60	1	0	0	0	0	0	0	0	1	4045	1509	53	5		5	CTNNA2	2	80620389	Silent	SNP	T	TCGA-CN-4726-01A-01D-1434-08	11880115	80620389	162578984	15	11710											
MAT2A	4144	broad.mit.edu	37	chr2	85769823	85769823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttatgctgctcgttgggtgGcaaaatcccttgttaaagga	9	13	11	8	1	0	0	0	0	0	0	2	1	1	1	1	3	2	5	1	3	5	4			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:85769823G>A	ENST00000306434.3	+	7	1027	c.904G>A	c.(904-906)Gca>Aca	p.A302T	MAT2A_ENST00000409017.1_Missense_Mutation_p.A239T	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	302					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCGTTGGGTGGCAAAATCCCT	0.478													4	112					0	0	0	0	A	85769823	G	A	85769823	3	1	60	1	0	0	0	0	1	0	0	0	9399	1203	42	4	930	4	MAT2A	2	85769823	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	5149434	85769823	157429550	16	11711											
GPR45	11250	broad.mit.edu	37	chr2	105858867	105858867	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggccccacagtgcgtgctGggctacacggagctccccgc	5	5	14	17	4	0	0	0	0	0	0	1	1	1	1	4	3	4	3	4	3	1	1			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:105858867G>T	ENST00000258456.1	+	1	668	c.552G>T	c.(550-552)ctG>ctT	p.L184L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	184						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AGTGCGTGCTGGGCTACACGG	0.687													9	38					0.00829132	0.00895462	1	0	T	105858867	G	T	105858867	2	4	60	1	0	0	0	0	0	0	0	1	6745	1335	47	4		4	GPR45	2	105858867	Silent	SNP	G	TCGA-CN-4726-01A-01D-1434-08	20089044	105858867	137340506	17	11712											
GLI2	2736	broad.mit.edu	37	chr2	121747898	121747898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgggagctgccaggtcatgCggtcccagccaccacagcca	8	5	12	16	2	1	0	1	0	0	0	3	1	2	1	5	3	5	1	5	3	0	0			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:121747898C>T	ENST00000452319.1	+	14	4468	c.4408C>T	c.(4408-4410)Cgg>Tgg	p.R1470W	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.R1470W			P10070	GLI2_HUMAN	GLI family zinc finger 2	1470					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)				CCAGGTCATGCGGTCCCAGCC	0.637													5	160					0	0	0	0	T	121747898	C	T	121747898	3	4	60	1	0	0	0	0	1	0	0	0	6489	759	27	1	4458	1	GLI2	2	121747898	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08	15889031	121747898	121451475	18	11713											
ZBTB20	26137	broad.mit.edu	37	chr3	114057937	114057937	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagacggagcagacgtaaGtggtcccctccgtgcaggcc	8	5	15	13	3	0	2	0	0	0	2	2	3	2	3	4	4	2	4	4	4	1	1			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr3:114057937G>C	ENST00000462705.1	-	12	2743	c.1922C>G	c.(1921-1923)aCt>aGt	p.T641S	ZBTB20_ENST00000357258.3_Missense_Mutation_p.T641S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T641S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T641S|ZBTB20_ENST00000474710.1_Missense_Mutation_p.T714S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T641S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T641S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	714					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCAGACGTAAGTGGTCCCCTC	0.612													4	138					0	0	0	0	C	114057937	G	C	114057937	3	2	60	1	0	0	0	0	1	0	0	0	17624	1029	36	4	88	4	ZBTB20	3	114057937	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08		114057937	83964493	19	11714											
RAB7A	7879	broad.mit.edu	37	chr3	128526498	128526498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgttccagacgattgcacGgaatgcacttaagcaggtgg	10	8	14	9	3	0	1	0	0	0	1	1	3	1	2	1	4	3	4	1	4	2	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr3:128526498G>A	ENST00000265062.3	+	5	758	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	RAB7A_ENST00000485280.1_Intron|RAB7A_ENST00000482525.1_Missense_Mutation_p.R124Q	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	171					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		ACGATTGCACGGAATGCACTT	0.577													4	234					0	0	0	0	A	128526498	G	A	128526498	3	1	60	1	0	0	0	0	1	0	0	0	13036	1116	39	1	526	1	RAB7A	3	128526498	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	14468561	128526498	69495932	20	11715											
EPHB1	2047	broad.mit.edu	37	chr3	134885846	134885846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcattacagcacaggccGaggtaagtagaaagcagaga	16	4	12	9	1	0	2	0	0	0	2	0	4	0	2	2	2	4	5	2	2	4	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr3:134885846G>T	ENST00000398015.3	+	9	2127	c.1757G>T	c.(1756-1758)cGa>cTa	p.R586L	EPHB1_ENST00000493838.1_Missense_Mutation_p.R147L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	586						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGCACAGGCCGAGGTAAGTAG	0.547													89	420					1.59228e-47	2.08697e-47	1	0	T	134885846	G	T	134885846	3	4	60	1	0	0	0	0	1	0	0	0	5212	1058	37	3	1791	3	EPHB1	3	134885846	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	6359348	134885846	63136584	21	11716											
IFT80	57560	broad.mit.edu	37	chr3	160025482	160025482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acattgaagagacgttgaaaCaactaagtgtgcatagttca	16	10	9	6	1	1	3	1	2	0	1	1	4	1	3	0	0	3	3	0	0	5	5			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr3:160025482C>A	ENST00000326448.7	-	10	1477	c.1045G>T	c.(1045-1047)Gtt>Ttt	p.V349F	IFT80_ENST00000483465.1_Missense_Mutation_p.V212F|IFT80_ENST00000496589.1_Missense_Mutation_p.V212F|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V520F	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	349						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GACGTTGAAACAACTAAGTGT	0.358													27	61					5.61819e-17	6.95831e-17	1	0	A	160025482	C	A	160025482	3	1	60	1	0	0	0	0	1	0	0	0	7617	478	17	4	1332	4	IFT80	3	160025482	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08	25139636	160025482	37996948	22	11717											
GRID2	2895	broad.mit.edu	37	chr4	94138038	94138038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaacattgtgtgatccaaaGgatccatttgctcagaatat	13	13	7	8	0	2	2	2	1	0	1	4	3	4	3	2	1	2	1	2	1	4	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr4:94138038G>T	ENST00000282020.4	+	6	1197	c.939G>T	c.(937-939)aaG>aaT	p.K313N	GRID2_ENST00000510992.1_Missense_Mutation_p.K218N|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	313					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTGATCCAAAGGATCCATTTG	0.418													52	179					4.33383e-22	5.41729e-22	1	0	T	94138038	G	T	94138038	3	4	60	1	0	0	0	0	1	0	0	0	6822	991	35	4	961	4	GRID2	4	94138038	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08		94138038	97016238	23	11718											
UNC5C	8633	broad.mit.edu	37	chr4	96256707	96256707	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatataagcttcttcaggcTcaataaggaaatgtggcaga	15	10	9	7	0	3	1	2	0	1	1	3	2	3	2	0	3	1	3	0	3	6	5			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr4:96256707T>C	ENST00000453304.1	-	2	548	c.200A>G	c.(199-201)gAg>gGg	p.E67G	UNC5C_ENST00000506749.1_Missense_Mutation_p.E67G|UNC5C_ENST00000504962.1_Missense_Mutation_p.E67G	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	67	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTCTTCAGGCTCAATAAGGAA	0.418													3	140					0	0	0	0	C	96256707	T	C	96256707	3	2	60	1	0	0	0	0	1	0	0	0	17089	1551	54	5	2655	5	UNC5C	4	96256707	Missense_Mutation	SNP	T	TCGA-CN-4726-01A-01D-1434-08	2118669	96256707	94897569	24	11719											
NR3C2	4306	broad.mit.edu	37	chr4	149357399	149357399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgattccagcagggctgCaaaccgaagatgtcatgttc	11	10	11	9	1	1	2	1	1	0	1	3	3	2	2	2	1	3	5	2	1	2	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr4:149357399C>A	ENST00000355292.3	-	2	976	c.614G>T	c.(613-615)tGc>tTc	p.C205F	NR3C2_ENST00000358102.3_Missense_Mutation_p.C205F|NR3C2_ENST00000342437.4_Missense_Mutation_p.C205F|NR3C2_ENST00000511528.1_Missense_Mutation_p.C205F|NR3C2_ENST00000512865.1_Missense_Mutation_p.C205F|NR3C2_ENST00000344721.4_Missense_Mutation_p.C205F			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	205	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	AGCAGGGCTGCAAACCGAAGA	0.537													30	95					7.38237e-10	8.66626e-10	1	0	A	149357399	C	A	149357399	3	1	60	1	0	0	0	0	1	0	0	0	10702	710	25	4	2372	4	NR3C2	4	149357399	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08	53100692	149357399	41796877	25	11720											
CMYA5	202333	broad.mit.edu	37	chr5	79032114	79032114	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactgaactgaaagaatcaaAagccgatgctatgccacagc	16	7	8	10	1	1	3	1	2	0	1	1	4	1	3	2	0	6	1	2	0	7	2			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:79032114A>T	ENST00000446378.2	+	2	7557	c.7526A>T	c.(7525-7527)aAa>aTa	p.K2509I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2509						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAGAATCAAAAGCCGATGCT	0.368													22	81					0	0	0	0	T	79032114	A	T	79032114	3	4	60	1	0	0	0	0	1	0	0	0	3620	14	1	5	7532	5	CMYA5	5	79032114	Missense_Mutation	SNP	A	TCGA-CN-4726-01A-01D-1434-08		79032114	101883146	26	11721											
GPR98	84059	broad.mit.edu	37	chr5	89943453	89943453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagagagagatttcattcCtgttgaaaaaggagaaacgc	17	8	11	5	1	1	5	1	1	0	4	2	8	2	5	1	1	1	1	1	1	4	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:89943453C>T	ENST00000405460.2	+	17	3257	c.3161C>T	c.(3160-3162)cCt>cTt	p.P1054L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1054	Calx-beta 8.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATTTCATTCCTGTTGAAAAA	0.423													41	137					0	0	0	0	T	89943453	C	T	89943453	3	4	60	1	0	0	0	0	1	0	0	0	6771	681	24	4	3227	4	GPR98	5	89943453	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08	10911339	89943453	90971807	27	11722											
GPR98	84059	broad.mit.edu	37	chr5	90106533	90106533	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgacacaactctcattccTgtagaaactgaatccaccac	13	10	5	13	0	1	3	1	2	1	1	4	3	3	3	3	0	2	2	3	0	4	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:90106533T>C	ENST00000405460.2	+	74	15552	c.15456T>C	c.(15454-15456)ccT>ccC	p.P5152P	GPR98_ENST00000425867.2_Silent_p.P813P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5152					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTCTCATTCCTGTAGAAACTG	0.458													85	237					0	0	0	0	C	90106533	T	C	90106533	2	2	60	1	0	0	0	0	0	0	0	1	6771	1567	55	5		5	GPR98	5	90106533	Silent	SNP	T	TCGA-CN-4726-01A-01D-1434-08	163080	90106533	90808727	28	11723											
SLC23A1	9963	broad.mit.edu	37	chr5	138714989	138714989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatgatgcctgccagagtgGcgctgaacattcccaggaca	11	7	11	12	1	0	3	0	2	0	1	1	4	1	4	3	2	3	1	3	2	2	1			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:138714989G>A	ENST00000353963.3	-	9	1030	c.992C>T	c.(991-993)gCc>gTc	p.A331V	SLC23A1_ENST00000348729.3_Missense_Mutation_p.A327V	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	327					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	TGCCAGAGTGGCGCTGAACAT	0.607													34	78					0	0	0	0	A	138714989	G	A	138714989	3	1	60	1	0	0	0	0	1	0	0	0	14550	1203	42	4	840	4	SLC23A1	5	138714989	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	48608456	138714989	42200271	29	11724											
PCDHA2	56146	broad.mit.edu	37	chr5	140176610	140176610	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgtgggtgggcgccgcGggctcagaggctacgctggt	3	6	21	11	6	1	1	1	0	0	1	1	1	1	1	1	6	1	3	1	6	1	1			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:140176610G>T	ENST00000526136.1	+	1	2061	c.2061G>T	c.(2059-2061)gcG>gcT	p.A687A	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.A687A|PCDHA2_ENST00000520672.2_Silent_p.A687A	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGCCGCGGGCTCAGAGG	0.647													39	152					5.57489e-27	7.1001e-27	1	0	T	140176610	G	T	140176610	2	4	60	1	0	0	0	0	0	0	0	1	11595	1103	39	3		3	PCDHA2	5	140176610	Silent	SNP	G	TCGA-CN-4726-01A-01D-1434-08	1461621	140176610	40738650	30	11725											
PCDHA13	56136	broad.mit.edu	37	chr5	140261993	140261993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacggcaccttcgtgggccGcatcgctcaggacctggggc	6	6	14	15	4	1	0	1	0	0	0	3	1	1	1	3	5	0	3	3	5	0	1			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:140261993G>A	ENST00000289272.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R47H|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.R47H(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCTCAG	0.642													78	221					0	0	0	0	A	140261993	G	A	140261993	3	1	60	1	0	0	0	0	1	0	0	0	11594	1087	38	1	142	1	PCDHA13	5	140261993	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	85383	140261993	40653267	31	11726											
ABLIM3	22885	broad.mit.edu	37	chr5	148620311	148620311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactccaacctcttaccAggctcccaagcactttcaca	10	9	3	19	0	2	0	1	0	1	0	5	0	5	0	5	1	3	2	5	1	3	2			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:148620311A>G	ENST00000506113.1	+	13	1759	c.1277A>G	c.(1276-1278)cAg>cGg	p.Q426R	ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000309868.7_Missense_Mutation_p.Q426R|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Intron|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Intron			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	426					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTCTTACCAGGCTCCCAAG	0.592													3	201					0	0	0	0	G	148620311	A	G	148620311	3	3	60	1	0	0	0	0	1	0	0	0	96	188	7	5	1327	5	ABLIM3	5	148620311	Missense_Mutation	SNP	A	TCGA-CN-4726-01A-01D-1434-08	8358318	148620311	32294949	32	11727											
SLU7	10569	broad.mit.edu	37	chr5	159831502	159831502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactatctgaactgctctttCgatgcttcttctttttcttt	5	21	4	11	1	5	1	0	1	5	0	6	2	5	1	0	0	3	2	0	0	2	7			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:159831502C>T	ENST00000297151.4	-	15	1913	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	509					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGCTCTTTCGATGcttctt	0.323													16	104					0	0	0	0	T	159831502	C	T	159831502	3	4	60	1	0	0	0	0	1	0	0	0	14843	884	31	1	242	1	SLU7	5	159831502	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08	11211191	159831502	21083758	33	11728											
HIST1H2BH	8345	broad.mit.edu	37	chr6	26251971	26251971	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggatggcaagaagcgtaaAcgcagccgcaaggagagcta	16	3	14	8	3	0	2	0	0	0	2	0	4	0	3	1	3	4	5	1	3	7	2			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:26251971A>G	ENST00000356350.2	+	1	93	c.93A>G	c.(91-93)aaA>aaG	p.K31K		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	31					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						AGAAGCGTAAACGCAGCCGCA	0.557													62	206					0	0	0	0	G	26251971	A	G	26251971	2	3	60	1	0	0	0	0	0	0	0	1	7197	40	2	5		5	HIST1H2BH	6	26251971	Silent	SNP	A	TCGA-CN-4726-01A-01D-1434-08		26251971	144863096	34	11729											
TRIM39	56658	broad.mit.edu	37	chr6	30309645	30309645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggctactgagggtttcaCctcaggtcgacactactggg	7	10	12	12	1	2	1	2	1	0	0	3	2	2	1	2	4	2	2	2	4	2	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:30309645C>T	ENST00000376659.5	+	8	1674	c.1076C>T	c.(1075-1077)aCc>aTc	p.T359I	TRIM39_ENST00000376656.4_Missense_Mutation_p.T389I|TRIM39_ENST00000396551.3_Missense_Mutation_p.T359I|TRIM39_ENST00000540416.1_Missense_Mutation_p.T359I|TRIM39_ENST00000396547.1_Missense_Mutation_p.T389I|TRIM39_ENST00000396548.1_Missense_Mutation_p.T359I|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.T271I	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						GAGGGTTTCACCTCAGGTCGA	0.592													22	94					0	0	0	0	T	30309645	C	T	30309645	3	4	60	1	0	0	0	0	1	0	0	0	16608	507	18	4	1192	4	TRIM39	6	30309645	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08	4057674	30309645	140805422	35	11730											
HLA-C	3107	broad.mit.edu	37	chr6	31238903	31238903	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatctgcggagccactccAcgcacgtgccctccaggtag	7	7	12	15	3	1	0	0	0	1	0	3	1	3	1	4	3	3	3	4	3	2	2			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:31238903A>T	ENST00000383329.3	-	3	580	c.566T>A	c.(565-567)gTg>gAg	p.V189E	HLA-C_ENST00000376228.5_Missense_Mutation_p.V189E			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	189	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GAGCCACTCCACGCACGTGCC	0.677													4	65					0	0	0	0	T	31238903	A	T	31238903	3	4	60	1	0	0	0	0	1	0	0	0	7247	159	6	5	558	5	HLA-C	6	31238903	Missense_Mutation	SNP	A	TCGA-CN-4726-01A-01D-1434-08	929258	31238903	139876164	36	11731											
MRPS10	55173	broad.mit.edu	37	chr6	42185571	42185571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccggcacacagcaccgaacGctgtccgcgccgccatcttg	7	5	11	18	6	1	0	0	0	1	0	2	1	2	0	5	1	2	3	5	1	1	1			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:42185571G>A	ENST00000053468.3	-	1	32	c.17C>T	c.(16-18)gCg>gTg	p.A6V		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	6					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			AGCACCGAACGCTGTCCGCGC	0.597													12	53					0	0	0	0	A	42185571	G	A	42185571	3	1	60	1	0	0	0	0	1	0	0	0	9891	1087	38	1	616	1	MRPS10	6	42185571	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	10946668	42185571	128929496	37	11732											
TMEM63B	55362	broad.mit.edu	37	chr6	44117677	44117677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatcgtctactactcaGccttctttgaagcccactgg	8	11	6	16	1	3	1	1	1	2	0	4	1	3	1	4	1	4	0	4	1	3	4			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:44117677G>T	ENST00000259746.9	+	16	1678	c.1495G>T	c.(1495-1497)Gcc>Tcc	p.A499S	TMEM63B_ENST00000323267.6_Missense_Mutation_p.A499S			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	499						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTACTACTCAGCCTTCTTTGA	0.602													11	23					1.41608e-15	1.72226e-15	1	0	T	44117677	G	T	44117677	3	4	60	1	0	0	0	0	1	0	0	0	16285	971	34	4	1553	4	TMEM63B	6	44117677	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	1932106	44117677	126997390	38	11733											
KCNQ5	56479	broad.mit.edu	37	chr6	73900382	73900382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcattgaacaatattctgCtggtcatctggacatgttgt	9	16	9	7	0	4	1	2	1	2	0	4	2	4	2	0	2	2	2	0	2	3	4			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:73900382C>A	ENST00000342056.2	+	13	2119	c.1721C>A	c.(1720-1722)gCt>gAt	p.A574D	KCNQ5_ENST00000414165.2_Missense_Mutation_p.A445D|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A546D|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A565D|KCNQ5_ENST00000370398.1_Missense_Mutation_p.A555D|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A556D|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A555D	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	555					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAATATTCTGCTGGTCATCTG	0.353													29	81					1.16021e-09	1.35024e-09	1	0	A	73900382	C	A	73900382	3	1	60	1	0	0	0	0	1	0	0	0	8139	797	28	4	1771	4	KCNQ5	6	73900382	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08	29782705	73900382	97214685	39	11734											
AOAH	313	broad.mit.edu	37	chr7	36552720	36552720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagatatgctcttcattgaGagaaagacatttgcaaagat	15	11	8	7	0	2	5	1	1	1	4	2	6	2	5	1	0	2	2	1	0	3	4			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr7:36552720G>C	ENST00000431169.1	-	22	2285	c.1985C>G	c.(1984-1986)tCt>tGt	p.S662C	AOAH_ENST00000538464.1_3'UTR|AOAH_ENST00000535891.1_3'UTR|AOAH_ENST00000258749.5_3'UTR	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TCTTCATTGAGAGAAAGACAT	0.498													14	30					0	0	0	0	C	36552720	G	C	36552720	3	2	60	1	0	0	0	0	1	0	0	0	727	942	33	2	83	2	AOAH	7	36552720	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08		36552720	122585943	40	11735											
FAM71F1	84691	broad.mit.edu	37	chr7	128359088	128359088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctaggattcttgtcaCgcactgcctggtacccaaga	10	9	9	13	1	2	2	1	0	1	2	2	3	2	3	3	2	2	2	3	2	3	4			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr7:128359088C>T	ENST00000315184.5	+	3	691	c.638C>T	c.(637-639)aCg>aTg	p.T213M	FAM71F1_ENST00000485070.1_Missense_Mutation_p.T114M|FAM71F1_ENST00000469348.1_3'UTR	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	213										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATTCTTGTCACGCACTGCCTG	0.537													5	214					0	0	0	0	T	128359088	C	T	128359088	3	4	60	1	0	0	0	0	1	0	0	0	5658	536	19	1	648	1	FAM71F1	7	128359088	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08	91806368	128359088	30779575	41	11736											
PLXNA4	91584	broad.mit.edu	37	chr7	132192727	132192727	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaaccatagacatagtaGatatcaaagtcagggatgat	18	9	8	6	0	2	3	2	1	0	2	2	4	2	4	1	1	1	1	1	1	7	5			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr7:132192727G>T	ENST00000359827.3	-	2	1688	c.726C>A	c.(724-726)atC>atA	p.I242I	PLXNA4_ENST00000423507.2_Silent_p.I242I|PLXNA4_ENST00000321063.4_Silent_p.I242I|PLXNA4_ENST00000378539.5_Silent_p.I242I			Q9HCM2	PLXA4_HUMAN	plexin A4	242	Sema.					integral to membrane|intracellular|plasma membrane		p.I242I(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGACATAGTAGATATCAAAGT	0.498													20	89					1.01871e-10	1.20637e-10	1	0	T	132192727	G	T	132192727	2	4	60	1	0	0	0	0	0	0	0	1	12194	932	33	2		2	PLXNA4	7	132192727	Silent	SNP	G	TCGA-CN-4726-01A-01D-1434-08	3833639	132192727	26945936	42	11737											
TBXAS1	6916	broad.mit.edu	37	chr7	139636105	139636105	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctgaaaagctgaacgAggtaagacatgagaaatgca	17	6	11	7	1	0	4	0	3	0	2	1	6	1	4	1	1	3	3	1	1	5	1			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr7:139636105A>T	ENST00000263552.6	+	9	990	c.453_splice	c.e9+1	p.E151_splice	TBXAS1_ENST00000448866.1_Splice_Site_p.E150_splice|TBXAS1_ENST00000414508.2_Splice_Site_p.E151_splice|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Splice_Site_p.E150_splice|TBXAS1_ENST00000425687.1_Splice_Site_p.E83_splice|TBXAS1_ENST00000336425.5_Splice_Site_p.E150_splice|TBXAS1_ENST00000416849.2_Splice_Site_p.E151_splice|TBXAS1_ENST00000436047.2_Splice_Site_p.E151_splice|TBXAS1_ENST00000411653.1_Splice_Site_p.E150_splice	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	150					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					AAGCTGAACGAGGTAAGACAT	0.473													92	288					0	0	0	0	T	139636105	A	T	139636105	5	4	60	1	0	0	0	0	0	0	1	0	15758	318	11	5	470	5	TBXAS1	7	139636105	Splice_Site	SNP	A	TCGA-CN-4726-01A-01D-1434-08	7443378	139636105	19502558	43	11738											
EPHA1	2041	broad.mit.edu	37	chr7	143088775	143088775	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgagtggaagtgcaggatGtagcgtttcatgcgtatgga	9	10	16	6	3	1	0	1	0	0	0	1	4	1	3	1	3	3	4	1	3	3	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr7:143088775G>T	ENST00000275815.3	-	17	2876	c.2790C>A	c.(2788-2790)taC>taA	p.Y930*		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	930	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGTGCAGGATGTAGCGTTTCA	0.607													13	41					1.02788e-11	1.23897e-11	1	0	T	143088775	G	T	143088775	4	4	60	1	0	0	0	0	0	1	0	0	5203	1372	48	4	148	4	EPHA1	7	143088775	Nonsense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	3452670	143088775	16049888	44	11739											
ADCY8	114	broad.mit.edu	37	chr8	131949376	131949376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgggcatggtcctggCggggctcaggaagtccagac	8	6	17	10	1	1	1	1	0	0	1	3	2	3	2	2	6	1	3	2	6	1	0			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr8:131949376C>T	ENST00000286355.5	-	5	3516	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	ADCY8_ENST00000377928.3_Missense_Mutation_p.R475H|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	475					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGGTCCTGGCGGGGCTCAGG	0.507										HNSCC(32;0.087)			25	131					0	0	0	0	T	131949376	C	T	131949376	3	4	60	1	0	0	0	0	1	0	0	0	300	768	27	1	2387	1	ADCY8	8	131949376	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08		131949376	14414646	45	11740											
PTK2	5747	broad.mit.edu	37	chr8	141678371	141678371	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatgactctattttaccttCaccatagggacatactcctc	12	13	4	12	0	2	1	1	1	1	0	4	2	3	2	3	1	2	0	3	1	5	6			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr8:141678371C>T	ENST00000522684.1	-	30	3091	c.2862G>A	c.(2860-2862)gtG>gtA	p.V954V	PTK2_ENST00000395218.2_Silent_p.V967V|PTK2_ENST00000521059.1_Silent_p.V954V|PTK2_ENST00000519465.1_Silent_p.V582V|PTK2_ENST00000340930.3_Silent_p.V967V|PTK2_ENST00000517712.1_Silent_p.V17V|PTK2_ENST00000519419.1_Silent_p.V998V|PTK2_ENST00000538769.1_Silent_p.V622V|PTK2_ENST00000535192.1_Silent_p.V908V|PTK2_ENST00000430260.2_Silent_p.V264V|PTK2_ENST00000517887.1_Silent_p.V998V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	954	Interaction with RGNEF (By similarity).|Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATTTTACCTTCACCATAGGGA	0.488											OREG0019022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	83					0	0	0	0	T	141678371	C	T	141678371	2	4	60	1	0	0	0	0	0	0	0	1	12842	813	29	2		2	PTK2	8	141678371	Silent	SNP	C	TCGA-CN-4726-01A-01D-1434-08	9728995	141678371	4685651	46	11741											
PTK2	5747	broad.mit.edu	37	chr8	141856357	141856357	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattgtaagtacaatacttActctaatacttcatagttag	15	15	5	6	0	2	1	1	0	1	1	2	1	2	1	0	0	4	3	0	0	9	10			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr8:141856357A>G	ENST00000522684.1	-	7	823		c.e7+1		PTK2_ENST00000395218.2_Splice_Site|PTK2_ENST00000521059.1_Splice_Site|PTK2_ENST00000340930.3_Splice_Site|PTK2_ENST00000519419.1_Splice_Site|PTK2_ENST00000535192.1_Splice_Site|PTK2_ENST00000517887.1_Splice_Site	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TACAATACTTACTCTAATACT	0.303													27	124					0	0	0	0	G	141856357	A	G	141856357	5	3	60	1	0	0	0	0	0	0	1	0	12842	405	14	5	2667	5	PTK2	8	141856357	Splice_Site	SNP	A	TCGA-CN-4726-01A-01D-1434-08	177986	141856357	4507665	47	11742											
KIF27	55582	broad.mit.edu	37	chr9	86482718	86482718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcctctaattcttggcGttggttcagaactttctcta	7	16	7	11	1	4	1	1	0	3	1	6	1	5	1	1	2	2	3	1	2	3	7	rs3199677	by1000genomes	TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr9:86482718G>A	ENST00000297814.2	-	13	2958	c.2815C>T	c.(2815-2817)Cgc>Tgc	p.R939C	RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000334204.2_Intron|RP11-575L7.4_ENST00000421734.3_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.R873C|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	939					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R939C(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AATTCTTGGCGTTGGTTCAGA	0.373													18	158					0	0	0	0	A	86482718	G	A	86482718	3	1	60	1	0	0	0	0	1	0	0	0	8347	1145	40	1	1414	1	KIF27	9	86482718	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08		86482718	54730713	48	11743											
SCAI	286205	broad.mit.edu	37	chr9	127734036	127734036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttttcccataggcctctgCgcatgcttgacaatccagag	9	11	8	13	1	1	2	0	1	1	1	3	2	3	2	3	1	2	2	3	1	2	4			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr9:127734036C>T	ENST00000336505.5	-	16	1545	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	SCAI_ENST00000373549.4_Missense_Mutation_p.R519H	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	496					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TAGGCCTCTGCGCATGCTTGA	0.423													53	163					0	0	0	0	T	127734036	C	T	127734036	3	4	60	1	0	0	0	0	1	0	0	0	13955	768	27	1	345	1	SCAI	9	127734036	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08	41251318	127734036	13479395	49	11744											
CUBN	8029	broad.mit.edu	37	chr10	16911647	16911647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcttacccaatgtctgccGgaaagacatcttccagcctt	10	12	6	13	1	3	1	0	0	3	1	4	2	4	2	4	1	3	0	4	1	3	4			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr10:16911647G>A	ENST00000377833.4	-	59	9507	c.9442C>T	c.(9442-9444)Cgg>Tgg	p.R3148W		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3148	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATGTCTGCCGGAAAGACATC	0.463													5	411					0	0	0	0	A	16911647	G	A	16911647	3	1	60	1	0	0	0	0	1	0	0	0	4083	1115	39	1	1465	1	CUBN	10	16911647	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08		16911647	118623100	50	11745											
GBF1	8729	broad.mit.edu	37	chr10	104118286	104118286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcatgcccttcattgatgtgCccactcccatctcctctgca	6	12	6	17	0	3	1	1	1	2	0	5	1	4	1	4	0	3	2	4	0	0	2			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr10:104118286C>T	ENST00000369983.3	+	10	1071	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	271					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)		CATTGATGTGCCCACTCCCAT	0.517													4	145					0	0	0	0	T	104118286	C	T	104118286	3	4	60	1	0	0	0	0	1	0	0	0	6320	739	26	4	845	4	GBF1	10	104118286	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08	87206639	104118286	31416461	51	11746											
TMEM80	283232	broad.mit.edu	37	chr11	703061	703061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaggccctagtgttgtggGcggactgggccctcagcgcc	4	7	17	13	2	1	0	1	0	0	0	1	1	1	1	3	5	1	2	3	5	1	2			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:703061G>A	ENST00000397512.3	+	5	504	c.394G>A	c.(394-396)Gcg>Acg	p.A132T	TMEM80_ENST00000528024.1_3'UTR|TMEM80_ENST00000397510.2_Missense_Mutation_p.A140T	NM_001042463.1|NM_174940.2	NP_001035928.1|NP_777600.2	Q96HE8	TMM80_HUMAN	transmembrane protein 80	140						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGTTGTGGGCGGACTGGGC	0.697													30	61					0	0	0	0	A	703061	G	A	703061	3	1	60	1	0	0	0	0	1	0	0	0	16298	1203	42	4	436	4	TMEM80	11	703061	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08		703061	134303455	52	11747											
OR5M10	390167	broad.mit.edu	37	chr11	56345153	56345153	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgggtcgtctgtcagtccTaagagaatgaattctgtcac	10	12	10	9	1	4	2	2	1	2	1	6	3	5	2	1	1	0	0	1	1	3	2			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:56345153T>C	ENST00000526812.2	-	1	110	c.45A>G	c.(43-45)ttA>ttG	p.L15L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CTGTCAGTCCTAAGAGAATGA	0.458													7	149					0	0	0	0	C	56345153	T	C	56345153	2	2	60	1	0	0	0	0	0	0	0	1	11244	1519	53	5		5	OR5M10	11	56345153	Silent	SNP	T	TCGA-CN-4726-01A-01D-1434-08	55642092	56345153	78661363	53	11748											
OR5M1	390168	broad.mit.edu	37	chr11	56380883	56380883	+	Silent	SNP	A	A	C																															agtgtgattaggtagatcgcAaggaataccccaaacaggat																										TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:56380883A>C	ENST00000526538.1	-	1	95	c.96T>G	c.(94-96)ctT>ctG	p.L32L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GGTAGATCGCAAGGAATACCC	0.493													10	124					0	0	0	0	C	56380883	A	C	56380883	2	2	60	1	0	0	0	0	0	0	0	1	11243	117	5	5		5	OR5M1	11	56380883	Silent	SNP	A	TCGA-CN-4726-01A-01D-1434-08	35730	56380883	78625633	54	11749	101	2									
OR5M1	390168	broad.mit.edu	37	chr11	56380889	56380889	+	Silent	SNP	T	T	C																															attaggtagatcgcaaggaaTaccccaaacaggatcttctc																										TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:56380889T>C	ENST00000526538.1	-	1	89	c.90A>G	c.(88-90)gtA>gtG	p.V30V		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCGCAAGGAATACCCCAAACA	0.478													13	127					0	0	0	0	C	56380889	T	C	56380889	2	2	60	1	0	0	0	0	0	0	0	1	11243	1393	49	5		5	OR5M1	11	56380889	Silent	SNP	T	TCGA-CN-4726-01A-01D-1434-08	6	56380889	78625627	55	11750	101	2									
TMEM179B	374395	broad.mit.edu	37	chr11	62557444	62557444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgaagccaccccataccgGcctctggagaggggtgaccc	8	6	12	15	1	2	3	0	2	2	1	2	4	2	3	6	4	2	0	6	4	2	1			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:62557444G>A	ENST00000333449.4	+	5	590	c.585G>A	c.(583-585)cgG>cgA	p.R195R	TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000307366.7_3'UTR	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	195						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						CCCCATACCGGCCTCTGGAGA	0.557													75	232					0	0	0	0	A	62557444	G	A	62557444	2	1	60	1	0	0	0	0	0	0	0	1	16191	1190	42	4		4	TMEM179B	11	62557444	Silent	SNP	G	TCGA-CN-4726-01A-01D-1434-08	6176555	62557444	72449072	56	11751											
CCDC77	84318	broad.mit.edu	37	chr12	539877	539877	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtaggtgaatgtgagcaGagtgaatcttcagctttcaa	11	12	12	6	0	3	4	2	3	1	1	3	4	3	4	0	1	2	4	0	1	4	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:539877G>C	ENST00000239830.4	+	7	737	c.558G>C	c.(556-558)caG>caC	p.Q186H	CCDC77_ENST00000412006.2_Missense_Mutation_p.Q154H|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000422000.1_Missense_Mutation_p.Q154H|CCDC77_ENST00000540180.1_Missense_Mutation_p.Q154H	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	186						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AATGTGAGCAGAGTGAATCTT	0.408													67	252					0	0	0	0	C	539877	G	C	539877	3	2	60	1	0	0	0	0	1	0	0	0	2878	933	33	2	576	2	CCDC77	12	539877	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08		539877	133312018	57	11752											
GRIN2B	2904	broad.mit.edu	37	chr12	13717097	13717097	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcttggaggaggggaggccGatgtccaggggcttcttgct	5	10	18	8	1	1	0	0	0	1	0	2	4	2	3	2	7	2	3	2	7	0	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:13717097G>A	ENST00000279593.3	-	13	3284	c.3075C>T	c.(3073-3075)atC>atT	p.I1025I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1025					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGGGAGGCCGATGTCCAGGG	0.587													19	56					0	0	0	0	A	13717097	G	A	13717097	2	1	60	1	0	0	0	0	0	0	0	1	6830	1048	37	1		1	GRIN2B	12	13717097	Silent	SNP	G	TCGA-CN-4726-01A-01D-1434-08	13177220	13717097	120134798	58	11753											
CAPRIN2	65981	broad.mit.edu	37	chr12	30863009	30863009	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attggcataggctgataccaAgacctcttcattcttcatga	11	13	7	10	0	4	3	2	2	2	1	4	3	4	3	2	2	1	2	2	2	3	6			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:30863009A>C	ENST00000251071.5	-	18	3961	c.3211T>G	c.(3211-3213)Ttg>Gtg	p.L1071V	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.L737V|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.L1021V|CAPRIN2_ENST00000395805.2_3'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	1071	C1q.				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCTGATACCAAGACCTCTTCA	0.443													35	124					0	0	0	0	C	30863009	A	C	30863009	3	2	60	1	0	0	0	0	1	0	0	0	2661	69	3	5	176	5	CAPRIN2	12	30863009	Missense_Mutation	SNP	A	TCGA-CN-4726-01A-01D-1434-08	17145912	30863009	102988886	59	11754											
DDN	23109	broad.mit.edu	37	chr12	49391856	49391856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatccagcctcttctttgtgCgccctccgtctgtcctggct	2	14	9	16	2	3	0	0	0	3	0	6	1	6	0	5	1	2	1	5	1	0	2			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:49391856C>T	ENST00000421952.2	-	2	824	c.803G>A	c.(802-804)cGc>cAc	p.R268H		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	268						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CTTCTTTGTGCGCCCTCCGTC	0.652													5	158					0	0	0	0	T	49391856	C	T	49391856	3	4	60	1	0	0	0	0	1	0	0	0	4365	768	27	1	1336	1	DDN	12	49391856	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08	18528847	49391856	84460039	60	11755											
DDN	23109	broad.mit.edu	37	chr12	49391990	49391990	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagccacgtagggtggcggCcggtcccagcggcgtcgtgg	4	5	20	12	6	0	0	0	0	0	0	2	1	1	1	3	7	2	1	3	7	1	1			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:49391990C>T	ENST00000421952.2	-	2	690	c.669G>A	c.(667-669)cgG>cgA	p.R223R		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	223	Interaction with MAGI2.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						AGGGTGGCGGCCGGTCCCAGC	0.701													3	61					0	0	0	0	T	49391990	C	T	49391990	2	4	60	1	0	0	0	0	0	0	0	1	4365	726	26	4		4	DDN	12	49391990	Silent	SNP	C	TCGA-CN-4726-01A-01D-1434-08	134	49391990	84459905	61	11756											
AAAS	8086	broad.mit.edu	37	chr12	53715239	53715239	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggagggaacaaccccAgagagcacatcttgccggtt	11	6	14	10	1	1	1	0	0	1	1	1	5	1	4	3	4	4	2	3	4	2	2			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:53715239A>C	ENST00000209873.4	-	1	176	c.11T>G	c.(10-12)cTg>cGg	p.L4R	AAAS_ENST00000549983.1_Intron|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Missense_Mutation_p.L4R	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	4					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GAACAACCCCAGAGAGCACAT	0.622											OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	103	239					0	0	0	0	C	53715239	A	C	53715239	3	2	60	1	0	0	0	0	1	0	0	0	8	188	7	5	1693	5	AAAS	12	53715239	Missense_Mutation	SNP	A	TCGA-CN-4726-01A-01D-1434-08	4323249	53715239	80136656	62	11757											
ZBTB39	9880	broad.mit.edu	37	chr12	57398238	57398238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacctcggagttctccaaggGgatgggcaggttctgccgaa	8	8	14	11	2	2	0	0	0	2	0	4	3	2	2	3	5	1	3	3	5	2	2			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:57398238G>A	ENST00000300101.2	-	2	549	c.464C>T	c.(463-465)cCc>cTc	p.P155L		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TTCTCCAAGGGGATGGGCAGG	0.552													79	151					0	0	0	0	A	57398238	G	A	57398238	3	1	60	1	0	0	0	0	1	0	0	0	17635	1232	43	4	1678	4	ZBTB39	12	57398238	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	3682999	57398238	76453657	63	11758											
RNF10	9921	broad.mit.edu	37	chr12	120995094	120995094	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgtttcagcgcatttgtAgccatgaagtgccatcttgc	7	16	9	9	1	2	1	1	1	1	0	2	1	2	1	2	0	4	3	2	0	2	6			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:120995094A>G	ENST00000325954.4	+	5	1116	c.655A>G	c.(655-657)Agc>Ggc	p.S219G	RNF10_ENST00000413266.2_Missense_Mutation_p.S219G	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	219					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGCATTTGTAGCCATGAAGT	0.483													3	212					0	0	0	0	G	120995094	A	G	120995094	3	3	60	1	0	0	0	0	1	0	0	0	13507	420	15	5	673	5	RNF10	12	120995094	Missense_Mutation	SNP	A	TCGA-CN-4726-01A-01D-1434-08	63596856	120995094	12856801	64	11759											
TPTE2	93492	broad.mit.edu	37	chr13	19997299	19997299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattcatttcttggtagaCaaagcctaagaatagaaaaa	18	10	6	7	0	2	3	1	0	1	3	2	3	2	3	2	1	1	1	2	1	8	6			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr13:19997299C>A	ENST00000400230.2	-	20	1516	c.1472G>T	c.(1471-1473)tGt>tTt	p.C491F	TPTE2_ENST00000382978.1_Missense_Mutation_p.C451F|TPTE2_ENST00000255310.6_Missense_Mutation_p.C414F|TPTE2_ENST00000457266.2_Missense_Mutation_p.C380F|TPTE2_ENST00000400103.2_Missense_Mutation_p.C380F|TPTE2_ENST00000390680.2_Missense_Mutation_p.C414F|TPTE2_ENST00000382975.4_Missense_Mutation_p.C451F|TPTE2_ENST00000382977.4_Missense_Mutation_p.C491F			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	491	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCTTGGTAGACAAAGCCTAAG	0.353													10	89					2.17888e-05	2.45124e-05	1	0	A	19997299	C	A	19997299	3	1	60	1	0	0	0	0	1	0	0	0	16526	478	17	4	100	4	TPTE2	13	19997299	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08		19997299	95172579	65	11760											
IFT88	8100	broad.mit.edu	37	chr13	21219018	21219018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtaatattgaagtcattGagtggcttggagcctattac	10	15	10	6	0	1	2	1	2	0	0	1	3	1	3	1	2	2	2	1	2	5	8			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr13:21219018G>A	ENST00000382778.4	+	21	3015	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	IFT88_ENST00000319980.6_Missense_Mutation_p.E633K|IFT88_ENST00000351808.5_Missense_Mutation_p.E624K|IFT88_ENST00000537103.1_Missense_Mutation_p.E605K			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	633					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGAAGTCATTGAGTGGCTTGG	0.308													36	149					0	0	0	0	A	21219018	G	A	21219018	3	1	60	1	0	0	0	0	1	0	0	0	7619	1291	45	2	1975	2	IFT88	13	21219018	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	1221719	21219018	93950860	66	11761											
C14orf93	60686	broad.mit.edu	37	chr14	23459034	23459034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaaacttcactactgaaAtattccaagaggacttgatg	16	10	8	7	0	1	4	1	2	0	2	2	6	2	5	1	1	2	0	1	1	6	5			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr14:23459034A>G	ENST00000299088.6	-	5	1430	c.1001T>C	c.(1000-1002)aTt>aCt	p.I334T	C14orf93_ENST00000406429.2_Missense_Mutation_p.I334T|C14orf93_ENST00000397377.1_Missense_Mutation_p.I154T|C14orf93_ENST00000397379.3_Missense_Mutation_p.I334T|C14orf93_ENST00000397382.4_Missense_Mutation_p.I334T|C14orf93_ENST00000341470.4_Missense_Mutation_p.I334T|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	334						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CACTACTGAAATATTCCAAGA	0.418													37	96					0	0	0	0	G	23459034	A	G	23459034	3	3	60	1	0	0	0	0	1	0	0	0	1794	101	4	5	627	5	C14orf93	14	23459034	Missense_Mutation	SNP	A	TCGA-CN-4726-01A-01D-1434-08		23459034	83890506	67	11762											
MBIP	51562	broad.mit.edu	37	chr14	36783737	36783737	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgattacaatcaataacAttgcaaaattccctgacgtt	14	13	4	10	1	1	2	1	2	0	0	2	2	2	2	2	0	3	2	2	0	6	6			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr14:36783737A>G	ENST00000416007.4	-	4	639	c.552T>C	c.(550-552)aaT>aaC	p.N184N	MBIP_ENST00000318473.7_Silent_p.N184N|MBIP_ENST00000359527.7_Silent_p.N184N	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	184	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		AATCAATAACATTGCAAAATT	0.279													13	44					0	0	0	0	G	36783737	A	G	36783737	2	3	60	1	0	0	0	0	0	0	0	1	9418	214	8	5		5	MBIP	14	36783737	Silent	SNP	A	TCGA-CN-4726-01A-01D-1434-08	13324703	36783737	70565803	68	11763											
SPTB	6710	broad.mit.edu	37	chr14	65262141	65262141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcgagcctctggcgccGggactgcagcagctcctgca	5	7	14	15	3	2	0	0	0	2	0	4	2	3	1	3	3	5	4	3	3	0	0			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr14:65262141G>A	ENST00000389722.3	-	11	1611	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	SPTB_ENST00000389721.5_Missense_Mutation_p.R520W|SPTB_ENST00000389720.3_Missense_Mutation_p.R520W|SPTB_ENST00000556626.1_Missense_Mutation_p.R520W|SPTB_ENST00000542895.1_Missense_Mutation_p.R520W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	520					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCTGGCGCCGGGACTGCAGC	0.602													32	80					0	0	0	0	A	65262141	G	A	65262141	3	1	60	1	0	0	0	0	1	0	0	0	15208	1115	39	1	5597	1	SPTB	14	65262141	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	28478404	65262141	42087399	69	11764											
BTBD7	55727	broad.mit.edu	37	chr14	93717956	93717956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattctaaccattcgcaagcGcacaagatccgtttgttcca	11	11	6	13	3	1	1	0	0	1	1	4	1	3	1	3	0	2	4	3	0	3	5	rs147262200	by1000genomes	TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr14:93717956G>A	ENST00000334746.5	-	8	2102	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	BTBD7_ENST00000393170.2_Missense_Mutation_p.R173C|BTBD7_ENST00000554565.1_Missense_Mutation_p.R248C	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	599										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ATTCGCAAGCGCACAAGATCC	0.438													5	327					0	0	0	0	A	93717956	G	A	93717956	3	1	60	1	0	0	0	0	1	0	0	0	1555	1087	38	1	1619	1	BTBD7	14	93717956	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	28455815	93717956	13631584	70	11765											
CYP46A1	10858	broad.mit.edu	37	chr14	100188342	100188342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcatggggcacctttcGcctgctggaagaggagacct	9	7	13	12	1	0	2	0	0	0	2	1	4	0	3	4	4	2	3	4	4	1	1			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr14:100188342G>A	ENST00000554176.1	+	7	1322	c.656G>A	c.(655-657)cGc>cAc	p.R219H	CYP46A1_ENST00000261835.3_Missense_Mutation_p.R372H|CYP46A1_ENST00000423126.2_Missense_Mutation_p.R275H			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	372					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGCACCTTTCGCCTGCTGGAA	0.622													45	123					0	0	0	0	A	100188342	G	A	100188342	3	1	60	1	0	0	0	0	1	0	0	0	4214	1087	38	1	1161	1	CYP46A1	14	100188342	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	6470386	100188342	7161198	71	11766											
ALPK3	57538	broad.mit.edu	37	chr15	85384098	85384098	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgccgacgccccctgccCggcggagacatggcacccgg	6	3	15	17	5	0	1	0	0	0	1	0	3	0	1	5	5	2	1	5	5	0	0			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr15:85384098C>A	ENST00000258888.5	+	5	2361	c.2194C>A	c.(2194-2196)Cgg>Agg	p.R732R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	732					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCCCTGCCCGGCGGAGACA	0.647													28	48					4.7796e-09	5.51493e-09	1	0	A	85384098	C	A	85384098	2	1	60	1	0	0	0	0	0	0	0	1	546	643	23	3		3	ALPK3	15	85384098	Silent	SNP	C	TCGA-CN-4726-01A-01D-1434-08		85384098	17147294	72	11767											
PKD1	5310	broad.mit.edu	37	chr16	2155892	2155892	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcacggtgaccagggccaAcgagtactcgatgacgtgct	10	6	13	12	4	0	2	0	2	0	0	1	4	0	2	2	2	4	3	2	2	2	1	rs149467954	by1000genomes	TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:2155892A>G	ENST00000262304.4	-	20	8045	c.7837T>C	c.(7837-7839)Ttg>Ctg	p.L2613L	PKD1_ENST00000423118.1_Silent_p.L2613L|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2613	REJ.		Missing (in ADPKD1; could be a polymorphism).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.L2613L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCAGGGCCAACGAGTACTCG	0.657													3	64					0	0	0	0	G	2155892	A	G	2155892	2	3	60	1	0	0	0	0	0	0	0	1	12035	40	2	5		5	PKD1	16	2155892	Silent	SNP	A	TCGA-CN-4726-01A-01D-1434-08		2155892	88198861	73	11768											
CLUAP1	23059	broad.mit.edu	37	chr16	3554771	3554771	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgacatatttctatggAaaatttccgtacacccaatt	12	13	4	12	2	1	0	0	0	1	0	3	2	2	1	3	1	1	1	3	1	6	6			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:3554771A>G	ENST00000571025.1	+	2	124	c.74A>G	c.(73-75)gAa>gGa	p.E25G	LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000576634.1_Missense_Mutation_p.E25G|CLUAP1_ENST00000341633.5_Missense_Mutation_p.E25G|CLUAP1_ENST00000417763.2_5'UTR			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	25						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						ATTTCTATGGAAAATTTCCGT	0.413													23	100					0	0	0	0	G	3554771	A	G	3554771	3	3	60	1	0	0	0	0	1	0	0	0	3599	246	9	5	80	5	CLUAP1	16	3554771	Missense_Mutation	SNP	A	TCGA-CN-4726-01A-01D-1434-08	1398879	3554771	86799982	74	11769											
DNAH3	55567	broad.mit.edu	37	chr16	20959878	20959878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagtcctcctcaatttccTtacagtagaacatggacaga	14	11	6	10	0	1	2	1	0	0	2	4	3	4	3	3	1	2	1	3	1	6	4			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:20959878T>C	ENST00000261383.3	-	57	11269	c.11270A>G	c.(11269-11271)aAg>aGg	p.K3757R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3757					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCAATTTCCTTACAGTAGAA	0.527													3	85					0	0	0	0	C	20959878	T	C	20959878	3	2	60	1	0	0	0	0	1	0	0	0	4640	1609	56	5	1103	5	DNAH3	16	20959878	Missense_Mutation	SNP	T	TCGA-CN-4726-01A-01D-1434-08	17405107	20959878	69394875	75	11770											
ZNF768	79724	broad.mit.edu	37	chr16	30537133	30537133	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggattcaaactcagggctctGagaatctgattcagggcttc	10	11	11	9	0	5	2	3	2	2	1	6	4	5	3	0	3	1	2	0	3	2	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:30537133G>A	ENST00000380412.5	-	2	503	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	ZNF768_ENST00000562803.1_Nonsense_Mutation_p.Q79*	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	110	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCAGGGCTCTGAGAATCTGAT	0.592													61	172					0	0	0	0	A	30537133	G	A	30537133	4	1	60	1	0	0	0	0	0	1	0	0	18235	1299	45	2	1298	2	ZNF768	16	30537133	Nonsense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	9577255	30537133	59817620	76	11771											
ADAMTS18	170692	broad.mit.edu	37	chr16	77387771	77387771	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcatccactagacacccCgcctgaggtgtgctgtaatg	8	9	11	13	1	1	2	1	1	0	1	2	2	2	2	4	2	1	3	4	2	2	2	rs148669189		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:77387771C>A	ENST00000282849.5	-	10	1891	c.1473G>T	c.(1471-1473)gcG>gcT	p.A491A		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	491	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTAGACACCCCGCCTGAGGTG	0.418													57	226					2.67592e-24	3.37616e-24	1	0	A	77387771	C	A	77387771	2	1	60	1	0	0	0	0	0	0	0	1	263	639	23	3		3	ADAMTS18	16	77387771	Silent	SNP	C	TCGA-CN-4726-01A-01D-1434-08	46850638	77387771	12966982	77	11772											
MAF	4094	broad.mit.edu	37	chr16	79633679	79633679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgcactggctgatgatgcGgtcggtctccaccggttcct	4	10	13	14	4	1	2	0	2	1	0	4	2	2	2	4	4	1	3	4	4	0	1			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:79633679G>A	ENST00000393350.1	-	1	932	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	MAF_ENST00000326043.4_Missense_Mutation_p.R41C|MAF_ENST00000569649.1_Missense_Mutation_p.R41C	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	41					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		CTGATGATGCGGTCGGTCTCC	0.607			T	IGH@	MM								19	55					0	0	0	0	A	79633679	G	A	79633679	3	1	60	1	0	0	0	0	1	0	0	0	9220	1116	39	1	1102	1	MAF	16	79633679	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	2245908	79633679	10721074	78	11773											
CDYL2	124359	broad.mit.edu	37	chr16	80646543	80646543	+	Frame_Shift_Del	DEL	G	G	-																															cagcgcgacgcccaggatctGggggaaggtgtaggaggagc																										TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:80646543delG	ENST00000299564.8	-	5	1353	c.1198delC	c.(1198-1200)agfs	p.Q400fs	CDYL2_ENST00000563890.1_Frame_Shift_Del_p.Q401fs|CDYL2_ENST00000562812.1_Frame_Shift_Del_p.Q401fs|CDYL2_ENST00000566173.1_Frame_Shift_Del_p.Q401fs	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	400						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CCCAGGATCTGGGGGAAGGTG	0.627													44	184	---	---	---	---					-	80646543	G	-	80646543	7	5	60	1	0	1	0	1	0	0	0	0	3215	1357	47	0	334	0	CDYL2	16	80646543	Frame_Shift_Del	DEL	G	TCGA-CN-4726-01A-01D-1434-08	1012864	80646543	9708210	79	11774											
TP53	7157	broad.mit.edu	37	chr17	7579310	7579310	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccctcagggcaactgAccgtgcaagtcacagacttg	10	6	10	15	1	2	2	2	1	0	1	2	2	2	2	4	1	3	2	4	1	2	1	rs68140816		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:7579310A>T	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGGCAACTGACCGTGCAAGT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			56	81					0	0	0	0	T	7579310	A	T	7579310	5	4	60	1	0	0	0	0	0	0	1	0	16476	289	10	5	925	5	TP53	17	7579310	Splice_Site	SNP	A	TCGA-CN-4726-01A-01D-1434-08		7579310	73615900	80	11775											
TMEM132E	124842	broad.mit.edu	37	chr17	32964777	32964777	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtttttgtgctgcgctaccgGcacaagcgcatcccgcccga	6	9	11	15	5	0	0	0	0	0	0	1	1	1	0	3	1	4	5	3	1	2	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:32964777G>A	ENST00000321639.5	+	10	2809	c.2481G>A	c.(2479-2481)cgG>cgA	p.R827R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	827						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGCGCTACCGGCACAAGCGCA	0.627													4	224					0	0	0	0	A	32964777	G	A	32964777	2	1	60	1	0	0	0	0	0	0	0	1	16142	1190	42	4		4	TMEM132E	17	32964777	Silent	SNP	G	TCGA-CN-4726-01A-01D-1434-08	25385467	32964777	48230433	81	11776											
SLFN13	146857	broad.mit.edu	37	chr17	33772744	33772744	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaatatttgtttcatttttGattaaaaaattgttacaggc	14	18	6	3	0	1	2	1	1	0	1	1	2	1	2	0	1	1	2	0	1	6	8			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:33772744G>C	ENST00000533791.1	-	0	285				SLFN13_ENST00000542635.1_Intron|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000526861.1_Intron|SLFN13_ENST00000285013.6_Intron			Q68D06	SLN13_HUMAN	schlafen family member 13							intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTTCATTTTTGATTAAAAAAT	0.348													5	15					0	0	0	0	C	33772744	G	C	33772744	1	2	60	1	0	0	0	0	0	0	0	0	14824	1305	45	2		2	SLFN13	17	33772744	Translation_Start_Site	SNP	G	TCGA-CN-4726-01A-01D-1434-08	807967	33772744	47422466	82	11777											
GPR179	440435	broad.mit.edu	37	chr17	36485440	36485440	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgattctgccagggtcctGaggagctgacccaggggaca	8	8	14	11	0	2	3	0	3	2	0	3	5	3	5	3	4	2	1	3	4	0	1			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:36485440G>A	ENST00000342292.4	-	11	4032	c.4012C>T	c.(4012-4014)Cag>Tag	p.Q1338*		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1338						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCAGGGTCCTGAGGAGCTGAC	0.612													36	134					0	0	0	0	A	36485440	G	A	36485440	4	1	60	1	0	0	0	0	0	1	0	0	6723	1299	45	2	3095	2	GPR179	17	36485440	Nonsense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08	2712696	36485440	44709770	83	11778											
CACNG5	27091	broad.mit.edu	37	chr17	64881045	64881045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgcagaccccagccaagGgagatgaggcaggccccagc	10	3	14	14	0	0	3	0	1	0	2	0	4	0	3	5	3	3	2	5	3	1	0			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:64881045G>A	ENST00000169565.3	+	4	837	c.837G>A	c.(835-837)agG>agA	p.R279R	CACNG5_ENST00000307139.3_Intron|CACNG5_ENST00000533854.1_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCCAGCCAAGGGAGATGAGGC	0.632													32	108					0	0	0	0	A	64881045	G	A	64881045	2	1	60	1	0	0	0	0	0	0	0	1	2585	1223	43	4		4	CACNG5	17	64881045	Silent	SNP	G	TCGA-CN-4726-01A-01D-1434-08	28395605	64881045	16314165	84	11779											
PRKAR1A	5573	broad.mit.edu	37	chr17	66518980	66518980	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatttctcctcctccaccCaacccagtggttaaaggtag	10	10	8	13	0	1	1	0	0	1	1	4	2	3	1	5	2	1	2	5	2	4	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:66518980C>A	ENST00000589228.1	+	3	389	c.261C>A	c.(259-261)ccC>ccA	p.P87P	PRKAR1A_ENST00000588188.2_Silent_p.P87P|PRKAR1A_ENST00000586397.1_Silent_p.P87P|PRKAR1A_ENST00000392711.1_Silent_p.P87P|PRKAR1A_ENST00000358598.2_Silent_p.P87P|PRKAR1A_ENST00000536854.2_Silent_p.P87P	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	87	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)					CTCCTCCACCCAACCCAGTGG	0.488			"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				4	126					0.000602214	0.000666385	1	0	A	66518980	C	A	66518980	2	1	60	1	0	0	0	0	0	0	0	1	12583	581	21	4		4	PRKAR1A	17	66518980	Silent	SNP	C	TCGA-CN-4726-01A-01D-1434-08	1637935	66518980	14676230	85	11780											
ABCA5	23461	broad.mit.edu	37	chr17	67310534	67310534	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtctgtctccaaactcctAcctccctaattgcagtggac	8	12	7	14	0	2	0	0	0	2	0	5	1	4	1	4	2	3	1	4	2	3	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:67310534A>G	ENST00000392676.3	-	2	87	c.23T>C	c.(22-24)gTa>gCa	p.V8A	ABCA5_ENST00000588877.1_Missense_Mutation_p.V8A|ABCA5_ENST00000392677.2_Missense_Mutation_p.V8A			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	8					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCAAACTCCTACCTCCCTAAT	0.358													5	208					0	0	0	0	G	67310534	A	G	67310534	3	3	60	1	0	0	0	0	1	0	0	0	35	391	14	5	5057	5	ABCA5	17	67310534	Missense_Mutation	SNP	A	TCGA-CN-4726-01A-01D-1434-08	791554	67310534	13884676	86	11781											
CABLES1	91768	broad.mit.edu	37	chr18	20833900	20833900	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcaagcatttaattgaCgtaagtagcctttttcctgg	11	14	9	7	1	1	1	1	1	0	0	2	2	2	1	2	1	2	3	2	1	5	7			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr18:20833900C>T	ENST00000256925.7	+	9	1761	c.1761_splice	c.e9+1	p.D587_splice	CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_Splice_Site_p.D260_splice|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000420687.2_Splice_Site_p.D322_splice	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	587					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATTTAATTGACGTAAGTAGCC	0.507													19	60					0	0	0	0	T	20833900	C	T	20833900	5	4	60	1	0	0	0	0	0	0	1	0	2554	550	19	1	1849	1	CABLES1	18	20833900	Splice_Site	SNP	C	TCGA-CN-4726-01A-01D-1434-08		20833900	57243348	87	11782											
C18orf8	29919	broad.mit.edu	37	chr18	21098936	21098936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggaggtggtcctctatcatCtaccacggtagatttcatgc	8	12	10	11	2	4	1	2	0	2	1	5	2	5	2	2	4	2	1	2	4	3	4			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr18:21098936C>T	ENST00000269221.3	+	8	846	c.736C>T	c.(736-738)Cta>Tta	p.L246L	C18orf8_ENST00000590868.1_Silent_p.L198L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	246										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTCTATCATCTACCACGGTA	0.433													29	101					0	0	0	0	T	21098936	C	T	21098936	2	4	60	1	0	0	0	0	0	0	0	1	1925	912	32	2		2	C18orf8	18	21098936	Silent	SNP	C	TCGA-CN-4726-01A-01D-1434-08	265036	21098936	56978312	88	11783											
MUC16	94025	broad.mit.edu	37	chr19	9059514	9059514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtagcaccagtgggcacaCtagaaaggacagtgcttttt	12	10	11	8	0	0	1	0	0	0	1	0	2	0	2	1	2	2	4	1	2	4	5			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr19:9059514C>A	ENST00000397910.4	-	3	28135	c.27932G>T	c.(27931-27933)aGt>aTt	p.S9311I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9313	Ser-rich.|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						AGTGGGCACACTAGAAAGGAC	0.498													5	275					0.000602214	0.000666385	1	0	A	9059514	C	A	9059514	3	1	60	1	0	0	0	0	1	0	0	0	10043	565	20	4	15919	4	MUC16	19	9059514	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08		9059514	50069469	89	11784											
CACNA1A	773	broad.mit.edu	37	chr19	13366020	13366020	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaagctctgcttgttctgCggcatgtgtcgggtcagcgg	4	12	16	9	3	3	0	1	0	2	0	4	1	3	1	0	4	4	4	0	4	1	2			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr19:13366020C>A	ENST00000360228.5	-	29	4643	c.4644G>T	c.(4642-4644)ccG>ccT	p.P1548P	CACNA1A_ENST00000573710.2_Silent_p.P1549P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1549					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCTTGTTCTGCGGCATGTGTC	0.607													3	38					0.004672	0.00508645	1	0	A	13366020	C	A	13366020	2	1	60	1	0	0	0	0	0	0	0	1	2563	755	27	3		3	CACNA1A	19	13366020	Silent	SNP	C	TCGA-CN-4726-01A-01D-1434-08	4306506	13366020	45762963	90	11785											
ZNF222	7673	broad.mit.edu	37	chr19	44536829	44536829	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttttggtccatcaacgagtCcacactggagaaaagccata	13	9	8	11	1	1	1	1	0	0	1	3	3	3	1	3	2	2	0	3	2	4	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr19:44536829C>G	ENST00000187879.8	+	4	1164	c.1002C>G	c.(1000-1002)gtC>gtG	p.V334V	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Silent_p.V374V	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				ATCAACGAGTCCACACTGGAG	0.428													48	194					0	0	0	0	G	44536829	C	G	44536829	2	3	60	1	0	0	0	0	0	0	0	1	17871	842	30	2		2	ZNF222	19	44536829	Silent	SNP	C	TCGA-CN-4726-01A-01D-1434-08	31170809	44536829	14592154	91	11786											
TBC1D20	128637	broad.mit.edu	37	chr20	419364	419364	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggttggtccttggcttggTcaggacatcttttgttcgat	4	16	13	8	2	2	0	1	0	1	0	4	2	3	1	1	5	0	3	1	5	0	6			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr20:419364T>A	ENST00000354200.4	-	8	1225	c.1078A>T	c.(1078-1080)Acc>Tcc	p.T360S	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	360					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CTTGGCTTGGTCAGGACATCT	0.567													91	227					0	0	0	0	A	419364	T	A	419364	3	1	60	1	0	0	0	0	1	0	0	0	15700	1667	58	5	137	5	TBC1D20	20	419364	Missense_Mutation	SNP	T	TCGA-CN-4726-01A-01D-1434-08		419364	62606156	92	11787											
GCAT	23464	broad.mit.edu	37	chr22	38212212	38212212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttgtgcccacaggttccGtagtaagatggaagctgctg	9	10	12	10	1	0	1	0	0	0	1	1	2	1	2	3	2	3	5	3	2	3	4			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr22:38212212G>A	ENST00000323205.6	+	8	1133	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	GCAT_ENST00000248924.6_Missense_Mutation_p.R331H	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	331					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CACAGGTTCCGTAGTAAGATG	0.612													26	60					0	0	0	0	A	38212212	G	A	38212212	3	1	60	1	0	0	0	0	1	0	0	0	6333	1145	40	1	1100	1	GCAT	22	38212212	Missense_Mutation	SNP	G	TCGA-CN-4726-01A-01D-1434-08		38212212	13092354	93	11788											
XIAP	331	broad.mit.edu	37	chrX	123040864	123040864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactgaagagcagctaaggCgcctgcaagaggagaagctt	13	6	14	8	1	0	4	0	1	0	3	0	5	0	4	1	2	5	5	1	2	5	3			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chrX:123040864C>T	ENST00000371199.3	+	7	1626	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000434753.3_Missense_Mutation_p.R443C|XIAP_ENST00000355640.3_Missense_Mutation_p.R443C	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	443					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GCAGCTAAGGCGCCTGCAAGA	0.343									X-linked Lymphoproliferative syndrome				37	33					0	0	0	0	T	123040864	C	T	123040864	3	4	60	1	0	0	0	0	1	0	0	0	17524	768	27	1	1349	1	XIAP	23	123040864	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08		123040864	32229696	94	11789											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685920	125685920	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgtcatcgaacttgtcCgggtccatccgccacagcgc	8	8	10	15	4	1	0	1	0	0	0	5	1	4	0	4	1	2	0	4	1	1	1			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chrX:125685920C>T	ENST00000371126.1	-	1	914	c.672G>A	c.(670-672)ccG>ccA	p.P224P		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	224								p.P224P(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGAACTTGTCCGGGTCCATCC	0.642													33	33					0	0	0	0	T	125685920	C	T	125685920	2	4	60	1	0	0	0	0	0	0	0	1	4297	639	23	1		1	DCAF12L1	23	125685920	Silent	SNP	C	TCGA-CN-4726-01A-01D-1434-08	2645056	125685920	29584640	95	11790											
ARHGAP36	158763	broad.mit.edu	37	chrX	130215772	130215772	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggacacaaccccgacCgcaggacgaagatggtatcg	12	3	11	15	4	0	1	0	0	0	1	1	5	0	3	5	3	1	2	5	3	3	1			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chrX:130215772C>G	ENST00000276211.5	+	2	478	c.133C>G	c.(133-135)Cgc>Ggc	p.R45G	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R33G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	45					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CAACCCCGACCGCAGGACGAA	0.547													73	143					0	0	0	0	G	130215772	C	G	130215772	3	3	60	1	0	0	0	0	1	0	0	0	885	652	23	3	135	3	ARHGAP36	23	130215772	Missense_Mutation	SNP	C	TCGA-CN-4726-01A-01D-1434-08	4529852	130215772	25054788	96	11791											
AGRN	375790	broad.mit.edu	37	chr1	979269	979269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcagtgtgtgtgtccccGgtgtgagcaccccccgcccg	4	7	15	15	3	0	1	0	1	0	0	1	1	1	1	6	2	1	2	6	2	0	0	rs140789461		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:979269G>T	ENST00000379370.2	+	10	1915	c.1865G>T	c.(1864-1866)cGg>cTg	p.R622L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	622	Kazal-like 7.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTGTGTCCCCGGTGTGAGCAC	0.682													6	51					3.59834e-05	3.88647e-05	1	0	T	979269	G	T	979269	3	4	61	1	0	0	0	0	1	0	0	0	397	1116	39	3	1903	3	AGRN	1	979269	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08		979269	248271352	1	11792											
TAS1R3	83756	broad.mit.edu	37	chr1	1267466	1267466	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcccctccttcttccgCaccgtgcccagcgaccgtgt	4	10	7	20	4	1	0	0	0	1	0	4	1	4	0	8	0	2	1	8	0	0	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:1267466C>A	ENST00000339381.5	+	3	587	c.555C>A	c.(553-555)cgC>cgA	p.R185R		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	185					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.R185R(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CCTTCTTCCGCACCGTGCCCA	0.682													35	70					7.04047e-22	9.67648e-22	1	0	A	1267466	C	A	1267466	2	1	61	1	0	0	0	0	0	0	0	1	15655	697	25	4		4	TAS1R3	1	1267466	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	288197	1267466	247983155	2	11793											
SPEN	23013	broad.mit.edu	37	chr1	16255029	16255029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctcagaccggagtggaaGctgtagctcactctcccctc	8	9	9	15	1	3	1	2	0	1	1	6	3	4	3	4	2	2	3	4	2	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:16255029G>A	ENST00000375759.3	+	11	2498	c.2294G>A	c.(2293-2295)aGc>aAc	p.S765N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	765	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGGAGTGGAAGCTGTAGCTCA	0.498													21	93					0	0	0	0	A	16255029	G	A	16255029	3	1	61	1	0	0	0	0	1	0	0	0	15128	971	34	4	2336	4	SPEN	1	16255029	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	14987563	16255029	232995592	3	11794											
SPEN	23013	broad.mit.edu	37	chr1	16258907	16258907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaacccccctgaaaccGcccctgttgaagttgtagag	13	7	8	13	1	0	3	0	2	0	1	0	3	0	3	6	0	2	3	6	0	5	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:16258907G>A	ENST00000375759.3	+	11	6376	c.6172G>A	c.(6172-6174)Gcc>Acc	p.A2058T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2058					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCTGAAACCGCCCCTGTTGA	0.498													4	124					0	0	0	0	A	16258907	G	A	16258907	3	1	61	1	0	0	0	0	1	0	0	0	15128	1087	38	1	6214	1	SPEN	1	16258907	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	3878	16258907	232991714	4	11795											
RUNX3	864	broad.mit.edu	37	chr1	25254161	25254161	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcagcggagtagttctCgtcattgcctgccatcacag	8	10	10	13	2	4	0	3	0	1	0	5	1	4	1	2	1	4	3	2	1	1	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:25254161C>A	ENST00000399916.1	-	3	823	c.385G>T	c.(385-387)Gag>Tag	p.E129*	RUNX3_ENST00000338888.3_Nonsense_Mutation_p.E129*|RUNX3_ENST00000308873.6_Nonsense_Mutation_p.E115*|RUNX3_ENST00000540420.1_Nonsense_Mutation_p.E22*|RUNX3_ENST00000496967.1_5'UTR	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	115	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GAGTAGTTCTCGTCATTGCCT	0.627													78	203					1.40941e-23	1.97931e-23	1	0	A	25254161	C	A	25254161	4	1	61	1	0	0	0	0	0	1	0	0	13834	893	31	3	920	3	RUNX3	1	25254161	Nonsense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	8995254	25254161	223996460	5	11796											
YTHDF2	51441	broad.mit.edu	37	chr1	29095450	29095450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctctgtaggaacgtcaaGgtcgtgggaaataaaaggca	14	8	12	7	2	2	0	1	0	1	0	3	2	2	2	1	4	2	2	1	4	7	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:29095450G>A	ENST00000373812.3	+	5	2088	c.1726G>A	c.(1726-1728)Ggt>Agt	p.G576S	YTHDF2_ENST00000542507.1_Missense_Mutation_p.G576S|YTHDF2_ENST00000541996.1_Missense_Mutation_p.G526S|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	576					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GGAACGTCAAGGTCGTGGGAA	0.343													8	63					0	0	0	0	A	29095450	G	A	29095450	3	1	61	1	0	0	0	0	1	0	0	0	17595	1000	35	4	1744	4	YTHDF2	1	29095450	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	3841289	29095450	220155171	6	11797											
PHC2	1912	broad.mit.edu	37	chr1	33832992	33832992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggcccgaggctgctgccGctggtgtctgctgtgttcgg	1	11	18	11	3	1	0	0	0	1	0	2	1	1	0	2	5	3	5	2	5	0	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:33832992G>A	ENST00000257118.5	-	6	754	c.701C>T	c.(700-702)gCg>gTg	p.A234V	PHC2_ENST00000419414.2_Missense_Mutation_p.A234V|PHC2_ENST00000431992.1_Missense_Mutation_p.A205V|PHC2_ENST00000373416.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	234					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCTGCTGCCGCTGGTGTCTG	0.622											OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	153					0	0	0	0	A	33832992	G	A	33832992	3	1	61	1	0	0	0	0	1	0	0	0	11889	1087	38	1	1911	1	PHC2	1	33832992	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	4737542	33832992	215417629	7	11798											
DLGAP3	58512	broad.mit.edu	37	chr1	35350638	35350638	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctccggctcctgttctcGgtgtccgaatctgagatcgt	4	13	10	14	4	2	1	0	1	2	1	8	3	6	1	4	2	0	2	4	2	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:35350638G>C	ENST00000373347.1	-	8	2209	c.1941C>G	c.(1939-1941)acC>acG	p.T647T	DLGAP3_ENST00000235180.4_Silent_p.T647T			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	647					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCCTGTTCTCGGTGTCCGAAT	0.607													33	68					0	0	0	0	C	35350638	G	C	35350638	2	2	61	1	0	0	0	0	0	0	0	1	4598	1103	39	3		3	DLGAP3	1	35350638	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1517646	35350638	213899983	8	11799											
CSF3R	1441	broad.mit.edu	37	chr1	36933736	36933736	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggtaagggggctcttccCcagctcagggggctcaggca	6	7	17	11	0	3	0	2	0	1	0	4	0	4	0	2	6	1	5	2	6	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:36933736C>G	ENST00000373103.1	-	13	2210	c.1663G>C	c.(1663-1665)Ggg>Cgg	p.G555R	CSF3R_ENST00000440588.2_Missense_Mutation_p.G555R|CSF3R_ENST00000373104.1_Missense_Mutation_p.G555R|CSF3R_ENST00000361632.4_Missense_Mutation_p.G555R|CSF3R_ENST00000373106.1_Missense_Mutation_p.G555R|CSF3R_ENST00000331941.5_Missense_Mutation_p.G555R|CSF3R_ENST00000418048.2_Missense_Mutation_p.G555R|CSF3R_ENST00000338937.5_Missense_Mutation_p.G555R|CSF3R_ENST00000487540.2_5'UTR	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	555	Fibronectin type-III 5.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGCTCTTCCCCAGCTCAGGG	0.592													42	82					0	0	0	0	G	36933736	C	G	36933736	3	3	61	1	0	0	0	0	1	0	0	0	3969	623	22	4	1057	4	CSF3R	1	36933736	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1583098	36933736	212316885	9	11800											
DMAP1	55929	broad.mit.edu	37	chr1	44685699	44685699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcctgcagagctgagcccGacacctacggaggagctggt	8	6	14	13	2	0	2	0	1	0	1	0	5	0	4	3	3	6	3	3	3	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:44685699G>A	ENST00000372289.2	+	9	1325	c.1062G>A	c.(1060-1062)ccG>ccA	p.P354P	DMAP1_ENST00000315913.5_Silent_p.P354P|DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000361745.6_Silent_p.P354P	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	354					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					AGCTGAGCCCGACACCTACGG	0.622													7	42					0	0	0	0	A	44685699	G	A	44685699	2	1	61	1	0	0	0	0	0	0	0	1	4613	1045	37	1		1	DMAP1	1	44685699	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	7751963	44685699	204564922	10	11801											
TTC39A	22996	broad.mit.edu	37	chr1	51768088	51768088	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagaacaggaagatggcacCctgcaatgacacacatgtaa	18	5	9	9	0	0	3	0	1	0	2	0	4	0	4	1	2	2	3	1	2	5	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:51768088C>A	ENST00000262676.5	-	11	1088	c.927_splice	c.e11-1	p.G310_splice	TTC39A_ENST00000447632.2_Splice_Site_p.G314_splice|TTC39A_ENST00000451380.1_Splice_Site_p.G278_splice|TTC39A_ENST00000262675.7_Splice_Site_p.G251_splice|TTC39A_ENST00000371750.5_Splice_Site_p.G279_splice|TTC39A_ENST00000413473.2_Splice_Site_p.G282_splice|TTC39A_ENST00000371747.3_Splice_Site_p.G313_splice			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	314							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						AAGATGGCACCCTGCAATGAC	0.592													3	23					2.56e-06	2.80151e-06	1	0	A	51768088	C	A	51768088	5	1	61	1	0	0	0	0	0	0	1	0	16803	637	22	4	933	4	TTC39A	1	51768088	Splice_Site	SNP	C	TCGA-CN-4727-01A-01D-1434-08	7082389	51768088	197482533	11	11802											
DAB1	1600	broad.mit.edu	37	chr1	57528566	57528566	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgtacttacacttacaggTtgactttttggcacatcata	11	15	7	8	0	1	1	1	1	0	0	1	2	1	1	0	2	3	3	0	2	4	7	rs148730065	by1000genomes	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:57528566T>A	ENST00000371236.2	-	9	977	c.714A>T	c.(712-714)caA>caT	p.Q238H	DAB1_ENST00000371231.1_Missense_Mutation_p.Q238H|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.Q238H|DAB1_ENST00000420954.2_Missense_Mutation_p.Q203H|DAB1_ENST00000414851.2_Missense_Mutation_p.Q203H|DAB1_ENST00000439789.2_Missense_Mutation_p.Q119H			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	238					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CACTTACAGGTTGACTTTTTG	0.463													24	90					0	0	0	0	A	57528566	T	A	57528566	3	1	61	1	0	0	0	0	1	0	0	0	4250	1722	60	5	977	5	DAB1	1	57528566	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	5760478	57528566	191722055	12	11803											
C1orf87	127795	broad.mit.edu	37	chr1	60463339	60463339	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcttcctgaacctgtctatCcacgtctcacattcctcagc	8	12	5	16	1	3	1	2	1	2	0	7	1	6	1	4	0	3	1	4	0	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:60463339C>G	ENST00000371201.3	-	11	1529	c.1422G>C	c.(1420-1422)tgG>tgC	p.W474C	C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000395552.1_Missense_Mutation_p.W108C|C1orf87_ENST00000450089.2_Missense_Mutation_p.W245C	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	474							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ACCTGTCTATCCACGTCTCAC	0.468													39	91					0	0	0	0	G	60463339	C	G	60463339	3	3	61	1	0	0	0	0	1	0	0	0	2084	856	30	2	226	2	C1orf87	1	60463339	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	2934773	60463339	188787282	13	11804											
IL12RB2	3595	broad.mit.edu	37	chr1	67861485	67861485	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaactggtggatctgtacAaggtgctggagagcaggggc	10	7	17	7	0	1	1	0	0	1	1	1	4	1	2	0	6	4	3	0	6	3	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:67861485A>G	ENST00000262345.1	+	16	2942	c.2302A>G	c.(2302-2304)Aag>Gag	p.K768E	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.K682E	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	768					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GGATCTGTACAAGGTGCTGGA	0.582													39	123					0	0	0	0	G	67861485	A	G	67861485	3	3	61	1	0	0	0	0	1	0	0	0	7680	131	5	5	2360	5	IL12RB2	1	67861485	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	7398146	67861485	181389136	14	11805											
SERBP1	26135	broad.mit.edu	37	chr1	67891881	67891881	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttcgaatcttcgttcaCgaggtggtcgcctttctggt	4	16	11	10	4	3	0	1	0	2	0	6	2	3	0	1	3	0	2	1	3	1	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:67891881C>A	ENST00000370994.4	-	2	515	c.401G>T	c.(400-402)cGt>cTt	p.R134L	SERBP1_ENST00000361219.6_Missense_Mutation_p.R134L|SERBP1_ENST00000370995.2_Missense_Mutation_p.R134L|SERBP1_ENST00000370990.5_Missense_Mutation_p.R134L	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	134					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						TCTTCGTTCACGAGGTGGTCG	0.423													114	282					9.6197e-41	1.46442e-40	1	0	A	67891881	C	A	67891881	3	1	61	1	0	0	0	0	1	0	0	0	14162	536	19	3	853	3	SERBP1	1	67891881	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	30396	67891881	181358740	15	11806											
FPGT	8790	broad.mit.edu	37	chr1	74670366	74670366	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtcttagatccttttgAtgatttaaaacatagagacc	13	16	6	6	0	1	4	0	2	1	2	2	5	2	4	2	0	1	0	2	0	4	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:74670366A>G	ENST00000370898.2	+	4	672	c.635A>G	c.(634-636)gAt>gGt	p.D212G	FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.4_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GATCCTTTTGATGATTTAAAA	0.383													3	198					0	0	0	0	G	74670366	A	G	74670366	3	3	61	1	0	0	0	0	1	0	0	0	6084	333	12	5	649	5	FPGT	1	74670366	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	6778485	74670366	174580255	16	11807											
IFI44L	10964	broad.mit.edu	37	chr1	79093997	79093997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagataataaaatttatctaGataaaatgataacaagaaac	23	10	5	3	0	1	4	0	1	1	3	1	5	1	4	0	0	2	0	0	0	10	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:79093997G>T	ENST00000370751.4	+	2	576	c.397G>T	c.(397-399)Gat>Tat	p.D133Y	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	133						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AATTTATCTAGATAAAATGAT	0.299													15	42					2.31682e-05	2.50701e-05	1	0	T	79093997	G	T	79093997	3	4	61	1	0	0	0	0	1	0	0	0	7571	942	33	2	399	2	IFI44L	1	79093997	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	4423631	79093997	170156624	17	11808											
DBT	1629	broad.mit.edu	37	chr1	100672035	100672035	+	Frame_Shift_Del	DEL	G	G	-																															aaagagtaaatgttcctcctGtaagatcagtggtgctgagc																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:100672035delG	ENST00000370132.3	-	9	1188	c.1175delC	c.(1174-1176)aafs	p.T392fs		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	392					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TGTTCCTCCTGTAAGATCAGT	0.378													77	398	---	---	---	---					-	100672035	G	-	100672035	7	5	61	1	0	1	0	1	0	0	0	0	4291	1377	48	0	285	0	DBT	1	100672035	Frame_Shift_Del	DEL	G	TCGA-CN-4727-01A-01D-1434-08	21578038	100672035	148578586	18	11809											
COL11A1	1301	broad.mit.edu	37	chr1	103381240	103381240	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgcttctccaggttcacCctatatagagaagatcaaat	12	11	6	12	0	3	2	2	0	1	2	4	3	3	2	3	1	1	2	3	1	5	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:103381240C>A	ENST00000358392.2	-	50	4116	c.3798_splice	c.e50-1	p.G1267_splice	COL11A1_ENST00000353414.4_Splice_Site_p.G1216_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G1139_splice|COL11A1_ENST00000370096.3_Splice_Site_p.G1255_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1255	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAGGTTCACCCTATATAGAG	0.353													70	114					1.70537e-16	2.21278e-16	1	0	A	103381240	C	A	103381240	5	1	61	1	0	0	0	0	0	0	1	0	3697	637	22	4	1729	4	COL11A1	1	103381240	Splice_Site	SNP	C	TCGA-CN-4727-01A-01D-1434-08	2709205	103381240	145869381	19	11810											
COL11A1	1301	broad.mit.edu	37	chr1	103480115	103480115	+	Frame_Shift_Del	DEL	G	G	-																															tgagcttcctgagcagagatGgttggtcctttggaaccatc																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:103480115delG	ENST00000358392.2	-	13	1877	c.1560delC	c.(1558-1560)acfs	p.T520fs	COL11A1_ENST00000353414.4_Frame_Shift_Del_p.T469fs|COL11A1_ENST00000370096.3_Frame_Shift_Del_p.T508fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.T392fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	508	Telopeptide.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAGCAGAGATGGTTGGTCCTT	0.418													60	105	---	---	---	---					-	103480115	G	-	103480115	7	5	61	1	0	1	0	1	0	0	0	0	3697	1335	47	0	4116	0	COL11A1	1	103480115	Frame_Shift_Del	DEL	G	TCGA-CN-4727-01A-01D-1434-08	98875	103480115	145770506	20	11811											
COL11A1	1301	broad.mit.edu	37	chr1	103488414	103488414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcatattcgcctaaatCtccatctaccagaagatcag	16	10	4	11	1	4	2	2	0	2	2	6	2	4	2	3	0	1	0	3	0	7	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:103488414C>A	ENST00000358392.2	-	8	1482	c.1165G>T	c.(1165-1167)Gat>Tat	p.D389Y	COL11A1_ENST00000353414.4_Missense_Mutation_p.D338Y|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.D377Y	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	377	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCGCCTAAATCTCCATCTACC	0.378													28	139					4.87955e-14	6.15248e-14	1	0	A	103488414	C	A	103488414	3	1	61	1	0	0	0	0	1	0	0	0	3697	913	32	2	4531	2	COL11A1	1	103488414	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	8299	103488414	145762207	21	11812											
SPAG17	200162	broad.mit.edu	37	chr1	118516127	118516127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcttttcttgtttgtcccGcaacatcctgcagcaaggac	7	15	7	12	1	2	0	0	0	2	0	4	1	4	1	2	1	3	4	2	1	2	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:118516127G>A	ENST00000336338.5	-	44	6127	c.6062C>T	c.(6061-6063)gCg>gTg	p.A2021V	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2021						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGTTTGTCCCGCAACATCCTG	0.398													5	260					0	0	0	0	A	118516127	G	A	118516127	3	1	61	1	0	0	0	0	1	0	0	0	15069	1087	38	1	629	1	SPAG17	1	118516127	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	15027713	118516127	130734494	22	11813											
NOTCH2	4853	broad.mit.edu	37	chr1	120462937	120462937	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgatggtgtcctacggatGtctgcagcttcaaggtgctg	7	11	14	9	2	2	0	1	0	1	0	3	2	3	1	1	3	5	3	1	3	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:120462937G>C	ENST00000256646.2	-	30	5613	c.5394C>G	c.(5392-5394)gaC>gaG	p.D1798E		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1798					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		TCCTACGGATGTCTGCAGCTT	0.557			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				50	86					0	0	0	0	C	120462937	G	C	120462937	3	2	61	1	0	0	0	0	1	0	0	0	10618	1368	48	4	2041	4	NOTCH2	1	120462937	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1946810	120462937	128787684	23	11814											
PLEKHO1	51177	broad.mit.edu	37	chr1	150129588	150129588	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctcttcaggtcaccgttGaggaggacagctatcttgcc	8	11	10	12	1	4	1	2	1	2	0	5	3	4	3	2	3	2	2	2	3	1	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:150129588G>C	ENST00000369124.4	+	5	711	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	PLEKHO1_ENST00000025469.6_Intron|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_Intron	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	145	Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs).					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCACCGTTGAGGAGGACAG	0.557													20	88					0	0	0	0	C	150129588	G	C	150129588	3	2	61	1	0	0	0	0	1	0	0	0	12156	1291	45	2	451	2	PLEKHO1	1	150129588	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	29666651	150129588	99121033	24	11815											
CLK2	1196	broad.mit.edu	37	chr1	155236610	155236610	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttgaggaaatcgaaggTgctaaggcccagaagctcaa	13	8	12	8	1	2	2	1	1	1	1	3	4	2	3	1	3	2	2	1	3	5	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:155236610T>A	ENST00000368361.4	-	7	1063	c.748A>T	c.(748-750)Acc>Tcc	p.T250S	CLK2_ENST00000361168.5_Missense_Mutation_p.T249S|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.T250S|CLK2_ENST00000355560.4_Missense_Mutation_p.T248S			P49760	CLK2_HUMAN	CDC-like kinase 2	250	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAATCGAAGGTGCTAAGGCCC	0.542								Other conserved DNA damage response genes					37	70					0	0	0	0	A	155236610	T	A	155236610	3	1	61	1	0	0	0	0	1	0	0	0	3567	1696	59	5	779	5	CLK2	1	155236610	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	5107022	155236610	94014011	25	11816											
SYT11	23208	broad.mit.edu	37	chr1	155851056	155851056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagaaaacccatgtgaaGaagtgcactttgaaccccat	17	7	8	9	0	0	5	0	2	0	3	0	5	0	5	3	0	3	1	3	0	7	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:155851056G>A	ENST00000368324.4	+	4	1306	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	SYT11_ENST00000539162.1_Silent_p.K44K	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	351	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CCCATGTGAAGAAGTGCACTT	0.473													95	646					0	0	0	0	A	155851056	G	A	155851056	2	1	61	1	0	0	0	0	0	0	0	1	15558	933	33	2		2	SYT11	1	155851056	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	614446	155851056	93399565	26	11817											
SPTA1	6708	broad.mit.edu	37	chr1	158582745	158582745	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcctccagtgagacataGcccttcctgtgggagaaatg	10	10	11	10	0	0	2	0	1	0	2	3	4	3	2	4	1	1	0	4	1	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:158582745G>T	ENST00000368148.3	-	51	7176	c.6996C>A	c.(6994-6996)ggC>ggA	p.G2332G	SPTA1_ENST00000368147.3_Silent_p.G2329G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2332	EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTGAGACATAGCCCTTCCTGT	0.473													33	71					9.78306e-22	1.34141e-21	1	0	T	158582745	G	T	158582745	2	4	61	1	0	0	0	0	0	0	0	1	15206	958	34	4		4	SPTA1	1	158582745	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2731689	158582745	90667876	27	11818											
OR6N1	128372	broad.mit.edu	37	chr1	158735613	158735613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcgcaagctgtagatgaagGggttgaggaagggtgtgagc	10	8	19	4	1	0	4	0	3	0	1	0	5	0	5	0	4	3	4	0	4	4	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:158735613G>T	ENST00000335094.2	-	1	879	c.860C>A	c.(859-861)cCc>cAc	p.P287H		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GTAGATGAAGGGGTTGAGGAA	0.522													45	239					5.34276e-22	7.36057e-22	1	0	T	158735613	G	T	158735613	3	4	61	1	0	0	0	0	1	0	0	0	11277	1232	43	4	81	4	OR6N1	1	158735613	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	152868	158735613	90515008	28	11819											
MAEL	84944	broad.mit.edu	37	chr1	166974632	166974632	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggattattctagcaacacAaggtattgctagcatttttg	11	15	9	6	0	1	0	0	0	1	0	1	1	1	1	0	2	4	4	0	2	6	8			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:166974632A>T	ENST00000367872.4	+	8	1087	c.843A>T	c.(841-843)acA>acT	p.T281T	MAEL_ENST00000367870.2_Silent_p.T250T|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	281					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTAGCAACACAAGGTATTGCT	0.373													45	92					0	0	0	0	T	166974632	A	T	166974632	2	4	61	1	0	0	0	0	0	0	0	1	9219	117	5	5		5	MAEL	1	166974632	Silent	SNP	A	TCGA-CN-4727-01A-01D-1434-08	8239019	166974632	82275989	29	11820											
MAEL	84944	broad.mit.edu	37	chr1	166987197	166987197	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatgcagggcgttaccagGtaaggaactgacttttaaga	12	10	13	6	1	0	2	0	1	0	1	0	4	0	4	1	4	3	3	1	4	4	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:166987197G>T	ENST00000367872.4	+	10	1285		c.e10+1		MAEL_ENST00000367870.2_Splice_Site|MAEL_ENST00000491055.1_Splice_Site	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer						cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GCGTTACCAGGTAAGGAACTG	0.443													44	100					5.2432e-18	7.00704e-18	1	0	T	166987197	G	T	166987197	5	4	61	1	0	0	0	0	0	0	1	0	9219	1275	44	4	1080	4	MAEL	1	166987197	Splice_Site	SNP	G	TCGA-CN-4727-01A-01D-1434-08	12565	166987197	82263424	30	11821											
DNM3	26052	broad.mit.edu	37	chr1	172357712	172357712	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatttctctttttcctcaGgtcacctcctccaagcccca	7	14	4	16	0	3	1	2	1	1	0	7	1	6	1	6	1	1	0	6	1	1	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:172357712G>T	ENST00000358155.4	+	20	2461		c.e20-1		DNM3_ENST00000367731.1_Splice_Site|DNM3_ENST00000355305.5_Splice_Site	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3						endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTTTTCCTCAGGTCACCTCCT	0.458													20	52					1.56452e-12	1.93069e-12	1	0	T	172357712	G	T	172357712	5	4	61	1	0	0	0	0	0	0	1	0	4709	1014	35	4	2363	4	DNM3	1	172357712	Splice_Site	SNP	G	TCGA-CN-4727-01A-01D-1434-08	5370515	172357712	76892909	31	11822											
PAPPA2	60676	broad.mit.edu	37	chr1	176525640	176525640	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggttcgaagacccagagCttctccacagcatcacctct	11	8	7	15	1	3	2	1	0	2	2	5	3	3	2	3	1	2	3	3	1	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:176525640C>G	ENST00000367662.3	+	2	1346	c.182C>G	c.(181-183)gCt>gGt	p.A61G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A61G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	61					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGACCCAGAGCTTCTCCACAG	0.557													100	216					0	0	0	0	G	176525640	C	G	176525640	3	3	61	1	0	0	0	0	1	0	0	0	11504	797	28	4	184	4	PAPPA2	1	176525640	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	4167928	176525640	72724981	32	11823											
CACNA1E	777	broad.mit.edu	37	chr1	181727125	181727125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgccaaacctctcaccCgctacatgccgcagaacaga	12	5	7	17	3	2	2	2	0	1	2	3	2	2	2	4	0	5	2	4	0	3	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:181727125C>T	ENST00000526775.1	+	30	4480	c.4315C>T	c.(4315-4317)Cgc>Tgc	p.R1439C	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1390C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1065C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1458C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1439C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1409C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1458C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1458					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCTCTCACCCGCTACATGCC	0.517													30	135					0	0	0	0	T	181727125	C	T	181727125	3	4	61	1	0	0	0	0	1	0	0	0	2567	652	23	1	4494	1	CACNA1E	1	181727125	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	5201485	181727125	67523496	33	11824											
LAMC2	3918	broad.mit.edu	37	chr1	183177137	183177137	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcattcactgcgagaaGtgcaagaatggcttttaccg	11	10	12	8	2	1	2	1	0	0	2	1	4	1	2	1	2	3	3	1	2	4	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:183177137G>A	ENST00000264144.4	+	2	266	c.201G>A	c.(199-201)aaG>aaA	p.K67K	LAMC2_ENST00000493293.1_Silent_p.K67K	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	67	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						ACTGCGAGAAGTGCAAGAATG	0.498													207	366					0	0	0	0	A	183177137	G	A	183177137	2	1	61	1	0	0	0	0	0	0	0	1	8668	1020	36	4		4	LAMC2	1	183177137	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1450012	183177137	66073484	34	11825											
RGS1	5996	broad.mit.edu	37	chr1	192547358	192547358	+	Frame_Shift_Del	DEL	A	A	-																															tcgtttctttttagctggtcAaaatgtctttggaagtttcc																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:192547358delA	ENST00000367459.3	+	4	353	c.287delA	c.(286-288)cafs	p.Q96fs	RGS1_ENST00000469578.2_Frame_Shift_Del_p.Q96fs	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	96	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TTAGCTGGTCAAAATGTCTTT	0.338													123	254	---	---	---	---					-	192547358	A	-	192547358	7	5	61	1	0	1	0	1	0	0	0	0	13375	130	5	0	301	0	RGS1	1	192547358	Frame_Shift_Del	DEL	A	TCGA-CN-4727-01A-01D-1434-08	9370221	192547358	56703263	35	11826											
CACNA1S	779	broad.mit.edu	37	chr1	201061195	201061195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgctgctcattggggctGtgtggctttggatgacgtta	4	16	14	7	1	1	1	1	1	0	0	1	2	1	2	0	4	2	5	0	4	1	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:201061195G>A	ENST00000362061.3	-	4	672	c.446C>T	c.(445-447)aCa>aTa	p.T149I	CACNA1S_ENST00000367338.3_Missense_Mutation_p.T149I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	149					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CATTGGGGCTGTGTGGCTTTG	0.597													49	74					0	0	0	0	A	201061195	G	A	201061195	3	1	61	1	0	0	0	0	1	0	0	0	2572	1377	48	4	5339	4	CACNA1S	1	201061195	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	8513837	201061195	48189426	36	11827											
PPFIA4	8497	broad.mit.edu	37	chr1	203018892	203018892	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttgtggatggcgtccactCcaggtactgcagcgccagag	7	9	14	11	2	0	1	0	0	0	1	2	2	2	2	3	3	3	3	3	3	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:203018892C>A	ENST00000367240.2	+	12	1972	c.1445C>A	c.(1444-1446)tCc>tAc	p.S482Y	PPFIA4_ENST00000414050.2_Missense_Mutation_p.S210Y|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S507Y|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	0	SAM 2.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGCGTCCACTCCAGGTACTGC	0.627													6	9					0.00116845	0.00123218	1	0	A	203018892	C	A	203018892	3	1	61	1	0	0	0	0	1	0	0	0	12383	870	30	2		2	PPFIA4	1	203018892	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1957697	203018892	46231729	37	11828											
NFASC	23114	broad.mit.edu	37	chr1	204923419	204923419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgattgacttccgcagtggcGggcggccggaggaatatgag	8	8	17	8	4	0	3	0	3	0	0	1	5	1	5	2	5	0	1	2	5	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:204923419G>T	ENST00000367172.4	+	6	647	c.319G>T	c.(319-321)Ggg>Tgg	p.G107W	NFASC_ENST00000403080.1_Missense_Mutation_p.G107W|NFASC_ENST00000338586.6_Missense_Mutation_p.G107W|NFASC_ENST00000401399.1_Missense_Mutation_p.G107W|NFASC_ENST00000367171.4_Missense_Mutation_p.G107W|NFASC_ENST00000367169.4_Missense_Mutation_p.G107W|NFASC_ENST00000367170.4_Missense_Mutation_p.G107W|NFASC_ENST00000404907.1_Missense_Mutation_p.G101W|NFASC_ENST00000404076.1_Missense_Mutation_p.G101W|NFASC_ENST00000338515.6_Missense_Mutation_p.G107W|NFASC_ENST00000339876.6_Missense_Mutation_p.G107W|NFASC_ENST00000539706.1_Missense_Mutation_p.G101W|NFASC_ENST00000360049.4_Missense_Mutation_p.G101W|NFASC_ENST00000513543.1_Missense_Mutation_p.G101W			O94856	NFASC_HUMAN	neurofascin	107	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCGCAGTGGCGGGCGGCCGGA	0.582													18	60					1.96895e-08	2.25245e-08	1	0	T	204923419	G	T	204923419	3	4	61	1	0	0	0	0	1	0	0	0	10429	1116	39	3	333	3	NFASC	1	204923419	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1904527	204923419	44327202	38	11829											
PROX1	5629	broad.mit.edu	37	chr1	214170736	214170736	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcggagatcctggatgcCagggcccaggactctgtcgg	6	7	15	13	3	1	1	0	0	1	1	4	4	2	3	3	5	1	1	3	5	0	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:214170736C>T	ENST00000366958.4	+	2	1466	c.858C>T	c.(856-858)gcC>gcT	p.A286A	PROX1_ENST00000498508.2_Silent_p.A286A|PROX1_ENST00000261454.4_Silent_p.A286A|PROX1_ENST00000435016.1_Silent_p.A286A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	286					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCCTGGATGCCAGGGCCCAGG	0.502													39	94					0	0	0	0	T	214170736	C	T	214170736	2	4	61	1	0	0	0	0	0	0	0	1	12640	581	21	4		4	PROX1	1	214170736	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	9247317	214170736	35079885	39	11830											
PROX1	5629	broad.mit.edu	37	chr1	214171345	214171345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttcccccttcccttgatGgcctatccatttcagagccc	5	12	5	19	0	1	2	1	1	0	1	4	2	4	2	7	1	1	0	7	1	1	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:214171345G>A	ENST00000366958.4	+	2	2075	c.1467G>A	c.(1465-1467)atG>atA	p.M489I	PROX1_ENST00000498508.2_Missense_Mutation_p.M489I|PROX1_ENST00000261454.4_Missense_Mutation_p.M489I|PROX1_ENST00000435016.1_Missense_Mutation_p.M489I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	489					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTCCCTTGATGGCCTATCCAT	0.602													64	170					0	0	0	0	A	214171345	G	A	214171345	3	1	61	1	0	0	0	0	1	0	0	0	12640	1348	47	4	1469	4	PROX1	1	214171345	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	609	214171345	35079276	40	11831											
PTPN14	5784	broad.mit.edu	37	chr1	214551325	214551325	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtccatgggaacccgggTggcatcaactcgattctctt	7	11	10	13	3	2	0	1	0	1	0	6	2	3	1	2	3	2	1	2	3	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:214551325T>A	ENST00000366956.5	-	14	2859	c.2665A>T	c.(2665-2667)Acc>Tcc	p.T889S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	889					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGAACCCGGGTGGCATCAACT	0.567													42	94					0	0	0	0	A	214551325	T	A	214551325	3	1	61	1	0	0	0	0	1	0	0	0	12863	1696	59	5	922	5	PTPN14	1	214551325	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	379980	214551325	34699296	41	11832											
HHIPL2	79802	broad.mit.edu	37	chr1	222700357	222700357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccacgtggtgcataggCacttgggtaagaggtcgcca	10	8	14	9	2	0	2	0	0	0	2	2	2	1	2	2	4	1	3	2	4	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:222700357C>A	ENST00000343410.6	-	7	1817	c.1759G>T	c.(1759-1761)Gcc>Tcc	p.A587S		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	587					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGTGCATAGGCACTTGGGTAA	0.433													19	37					3.62473e-10	4.2905e-10	1	0	A	222700357	C	A	222700357	3	1	61	1	0	0	0	0	1	0	0	0	7144	710	25	4	427	4	HHIPL2	1	222700357	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	8149032	222700357	26550264	42	11833											
RHOU	58480	broad.mit.edu	37	chr1	228879196	228879196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcctagttggaacgcaGtcggatctcagagaagatgt	12	10	11	8	2	2	2	2	0	1	2	5	5	3	4	1	2	1	2	1	2	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:228879196G>T	ENST00000366691.3	+	3	1152	c.486G>T	c.(484-486)caG>caT	p.Q162H		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	162					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				TTGGAACGCAGTCGGATCTCA	0.527													76	143					2.0493e-37	3.08725e-37	1	0	T	228879196	G	T	228879196	3	4	61	1	0	0	0	0	1	0	0	0	13428	1020	36	4	496	4	RHOU	1	228879196	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	6178839	228879196	20371425	43	11834											
NID1	4811	broad.mit.edu	37	chr1	236154329	236154329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggcaccgcaggtccttGgtgaatcgggggagccactg	7	7	17	10	2	0	1	0	1	0	0	2	2	1	2	3	6	1	3	3	6	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:236154329G>T	ENST00000264187.6	-	14	2867	c.2785C>A	c.(2785-2787)Caa>Aaa	p.Q929K	NID1_ENST00000366595.3_Missense_Mutation_p.Q796K	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	929					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCAGGTCCTTGGTGAATCGGG	0.612													22	29					9.86323e-18	1.30311e-17	1	0	T	236154329	G	T	236154329	3	4	61	1	0	0	0	0	1	0	0	0	10484	1357	47	4	986	4	NID1	1	236154329	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	7275133	236154329	13096292	44	11835											
CHRM3	1131	broad.mit.edu	37	chr1	240070839	240070839	+	Frame_Shift_Del	DEL	C	C	-																															gcccctccgatgcagggctgCccccgggaaccgtcactcat																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:240070839delC	ENST00000255380.4	+	5	867	c.88delC	c.(88-90)ccfs	p.P31fs		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	31					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGCAGGGCTGCCCCCGGGAAC	0.542													66	190	---	---	---	---					-	240070839	C	-	240070839	7	5	61	1	0	1	0	1	0	0	0	0	3407	739	26	0	90	0	CHRM3	1	240070839	Frame_Shift_Del	DEL	C	TCGA-CN-4727-01A-01D-1434-08	3916510	240070839	9179782	45	11836											
RGS7	6000	broad.mit.edu	37	chr1	240964755	240964755	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaaaaattaaacttacCacattctgtgcaaatttttc	15	14	2	10	0	2	0	1	0	1	0	3	0	2	0	2	0	3	1	2	0	7	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:240964755C>G	ENST00000366565.1	-	17	1794	c.1413_splice	c.e17+1	p.V471_splice	RGS7_ENST00000331110.7_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000407727.1_Splice_Site_p.V471_splice|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000366564.1_Intron	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	471					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTAAACTTACCACATTCTGTG	0.353													3	40					0	0	0	0	G	240964755	C	G	240964755	5	3	61	1	0	0	0	0	0	0	1	0	13393	608	21	4	58	4	RGS7	1	240964755	Splice_Site	SNP	C	TCGA-CN-4727-01A-01D-1434-08	893916	240964755	8285866	46	11837											
HNRNPU	3192	broad.mit.edu	37	chr1	245019776	245019776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctttcattttgaggaccGcatgttctggtaggtctttc	5	17	10	9	1	3	1	1	1	2	0	4	2	3	2	2	3	1	3	2	3	1	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:245019776G>A	ENST00000444376.2	-	10	2072	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V	HNRNPU_ENST00000283179.9_Missense_Mutation_p.A632V	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	632					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTGAGGACCGCATGTTCTGG	0.368													5	355					0	0	0	0	A	245019776	G	A	245019776	3	1	61	1	0	0	0	0	1	0	0	0	7323	1087	38	1	602	1	HNRNPU	1	245019776	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	4055021	245019776	4230845	47	11838											
CNST	163882	broad.mit.edu	37	chr1	246805333	246805333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaggagctaccaccaaaGagtcaggtatgtttttaact	14	10	10	7	0	1	1	1	0	0	1	1	3	1	3	2	3	3	3	2	3	5	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:246805333G>A	ENST00000366513.4	+	8	1200	c.931G>A	c.(931-933)Gag>Aag	p.E311K	CNST_ENST00000366512.3_Missense_Mutation_p.E311K|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	311					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TACCACCAAAGAGTCAGGTAT	0.418													8	32					0	0	0	0	A	246805333	G	A	246805333	3	1	61	1	0	0	0	0	1	0	0	0	3664	943	33	2	957	2	CNST	1	246805333	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1785557	246805333	2445288	48	11839											
OR6F1	343169	broad.mit.edu	37	chr1	247875544	247875544	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagtggttgatggcacGggggccacagaaggacaggc	12	4	18	7	1	0	3	0	1	0	2	0	5	0	4	1	6	0	2	1	6	3	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:247875544G>C	ENST00000302084.2	-	1	561	c.514C>G	c.(514-516)Cgt>Ggt	p.R172G	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGATGGCACGGGGGCCACAG	0.597													49	146					0	0	0	0	C	247875544	G	C	247875544	3	2	61	1	0	0	0	0	1	0	0	0	11272	1116	39	3	416	3	OR6F1	1	247875544	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1070211	247875544	1375077	49	11840											
OR2T4	127074	broad.mit.edu	37	chr1	248525300	248525300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcttctacgtgacactaGcaggttcagaatttttcctt	8	17	7	9	1	3	2	1	1	2	1	4	2	4	2	1	1	2	3	1	1	3	8			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248525300G>T	ENST00000366475.1	+	1	418	c.418G>T	c.(418-420)Gca>Tca	p.A140S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGTGACACTAGCAGGTTCAGA	0.522													53	277					4.44712e-29	6.38448e-29	1	0	T	248525300	G	T	248525300	3	4	61	1	0	0	0	0	1	0	0	0	11098	971	34	4	420	4	OR2T4	1	248525300	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	649756	248525300	725321	50	11841											
OR2T3	343173	broad.mit.edu	37	chr1	248636987	248636987	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttcttctacctgaccctGgctggagctgaggttttcct	5	15	10	11	0	2	2	0	2	2	0	3	3	3	3	3	3	2	4	3	3	1	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248636987G>T	ENST00000359594.2	+	1	361	c.336G>T	c.(334-336)ctG>ctT	p.L112L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTGACCCTGGCTGGAGCTG	0.547													55	96					3.74213e-36	5.5939e-36	1	0	T	248636987	G	T	248636987	2	4	61	1	0	0	0	0	0	0	0	1	11094	1335	47	4		4	OR2T3	1	248636987	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	111687	248636987	613634	51	11842											
OR2T34	127068	broad.mit.edu	37	chr1	248737450	248737450	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgcagcacaggtacgtGagcatcttatagagggagac	13	7	14	7	1	1	3	0	1	1	2	1	5	1	4	0	3	4	4	0	3	3	3	rs148163660	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248737450G>T	ENST00000328782.2	-	1	630	c.609C>A	c.(607-609)ctC>ctA	p.L203L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGGTACGTGAGCATCTTAT	0.517													68	324					6.09464e-36	9.08712e-36	1	0	T	248737450	G	T	248737450	2	4	61	1	0	0	0	0	0	0	0	1	11096	1277	45	2		2	OR2T34	1	248737450	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	100463	248737450	513171	52	11843											
OR14I1	401994	broad.mit.edu	37	chr1	248844884	248844884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcatgatgacaatgagctggGgggagcaggtggagaaggct	11	6	19	5	0	0	4	0	3	0	1	0	6	0	5	0	6	2	4	0	6	2	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248844884G>A	ENST00000342623.3	-	1	745	c.722C>T	c.(721-723)cCc>cTc	p.P241L		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AATGAGCTGGGGGGAGCAGGT	0.468													47	124					0	0	0	0	A	248844884	G	A	248844884	3	1	61	1	0	0	0	0	1	0	0	0	11018	1232	43	4	217	4	OR14I1	1	248844884	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	107434	248844884	405737	53	11844											
PXDN	7837	broad.mit.edu	37	chr2	1677464	1677464	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcgtcttcacctctccGgccacgttctttgccatgca	4	14	7	16	3	5	0	1	0	4	0	6	0	5	0	4	1	3	2	4	1	0	4	rs61746899	by1000genomes	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:1677464G>A	ENST00000252804.4	-	9	1019	c.969C>T	c.(967-969)gcC>gcT	p.A323A	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	323	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCACCTCTCCGGCCACGTTCT	0.562													59	263					0	0	0	0	A	1677464	G	A	1677464	2	1	61	1	0	0	0	0	0	0	0	1	12929	1103	39	1		1	PXDN	2	1677464	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08		1677464	241521909	54	11845											
MYT1L	23040	broad.mit.edu	37	chr2	1906998	1906998	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccaggttggaacgcggcGtagttgtggggacattgttt	6	12	17	6	3	0	0	0	0	0	0	0	2	0	2	1	6	1	4	1	6	2	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:1906998G>C	ENST00000399161.2	-	14	2633	c.1886C>G	c.(1885-1887)aCg>aGg	p.T629R	MYT1L_ENST00000428368.2_Missense_Mutation_p.T627R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	629					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGAACGCGGCGTAGTTGTGGG	0.463													15	43					0	0	0	0	C	1906998	G	C	1906998	3	2	61	1	0	0	0	0	1	0	0	0	10177	1145	40	3	1722	3	MYT1L	2	1906998	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	229534	1906998	241292375	55	11846											
GREB1	9687	broad.mit.edu	37	chr2	11741112	11741112	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatccactggcctgcctcCtgcagtaatgtgagtgccac	8	9	11	13	0	0	2	0	1	0	1	2	3	2	2	5	1	3	2	5	1	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:11741112C>T	ENST00000381486.2	+	16	2820	c.2520C>T	c.(2518-2520)tcC>tcT	p.S840S	GREB1_ENST00000234142.5_Silent_p.S840S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	840						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCCTGCCTCCTGCAGTAATG	0.532													20	86					0	0	0	0	T	11741112	C	T	11741112	2	4	61	1	0	0	0	0	0	0	0	1	6810	668	24	4		4	GREB1	2	11741112	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	9834114	11741112	231458261	56	11847											
GREB1	9687	broad.mit.edu	37	chr2	11758774	11758774	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcctgccgccagccacccaTtgtcttcttgcccaagctcg	5	9	9	18	2	2	0	0	0	2	0	3	0	2	0	6	1	4	1	6	1	1	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:11758774T>C	ENST00000381486.2	+	22	4073	c.3773T>C	c.(3772-3774)aTt>aCt	p.I1258T	GREB1_ENST00000234142.5_Missense_Mutation_p.I1258T|GREB1_ENST00000396123.1_Missense_Mutation_p.I256T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1258						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAGCCACCCATTGTCTTCTTG	0.667													18	26					0	0	0	0	C	11758774	T	C	11758774	3	2	61	1	0	0	0	0	1	0	0	0	6810	1493	52	5	3963	5	GREB1	2	11758774	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	17662	11758774	231440599	57	11848											
TRIB2	28951	broad.mit.edu	37	chr2	12880596	12880596	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcgggcaaagcagccgaCgtgtggagcctgggggtgat	8	7	17	9	3	0	1	0	1	0	0	1	3	0	2	2	4	4	2	2	4	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:12880596C>T	ENST00000155926.4	+	3	2127	c.708C>T	c.(706-708)gaC>gaT	p.D236D	TRIB2_ENST00000381465.2_Silent_p.D100D	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	236	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.D236D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGCAGCCGACGTGTGGAGCC	0.592													11	85					0	0	0	0	T	12880596	C	T	12880596	2	4	61	1	0	0	0	0	0	0	0	1	16578	535	19	1		1	TRIB2	2	12880596	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1121822	12880596	230318777	58	11849											
GEN1	348654	broad.mit.edu	37	chr2	17962415	17962415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgcaaacataaagaaaGtgttggatgaggattctgat	16	10	10	5	0	1	3	0	2	1	1	1	5	1	5	0	2	2	2	0	2	4	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:17962415G>T	ENST00000381254.2	+	14	2150	c.1936G>T	c.(1936-1938)Gtg>Ttg	p.V646L	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.V646L	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	646					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CATAAAGAAAGTGTTGGATGA	0.393								Homologous recombination					3	70					1	1	1	0	T	17962415	G	T	17962415	3	4	61	1	0	0	0	0	1	0	0	0	6386	1029	36	4	1986	4	GEN1	2	17962415	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	5081819	17962415	225236958	59	11850											
C2orf44	80304	broad.mit.edu	37	chr2	24255744	24255744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccaaaagtctgctgaactgTactgagccttagtttaccat	11	12	8	10	0	1	2	0	2	1	0	1	2	1	2	3	0	5	3	3	0	6	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:24255744T>C	ENST00000295148.4	-	3	1948	c.1891A>G	c.(1891-1893)Aca>Gca	p.T631A	C2orf44_ENST00000406895.3_Intron	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	631							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGAACTGTACTGAGCCTT	0.408			T	ALK	NSCLC								39	177					0	0	0	0	C	24255744	T	C	24255744	3	2	61	1	0	0	0	0	1	0	0	0	2188	1638	57	5	282	5	C2orf44	2	24255744	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	6293329	24255744	218943629	60	11851											
LTBP1	4052	broad.mit.edu	37	chr2	33411996	33411996	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgccctccaaatttCacaggaaaactttgtcagat	12	12	7	10	0	3	1	3	0	0	1	4	2	4	2	2	1	2	0	2	1	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:33411996C>A	ENST00000404816.2	+	6	1628	c.1275C>A	c.(1273-1275)ttC>ttA	p.F425L	LTBP1_ENST00000407925.1_Missense_Mutation_p.F99L|LTBP1_ENST00000354476.3_Missense_Mutation_p.F425L|LTBP1_ENST00000390003.4_Missense_Mutation_p.F99L|LTBP1_ENST00000418533.2_Missense_Mutation_p.F99L|LTBP1_ENST00000402934.1_Missense_Mutation_p.F99L|LTBP1_ENST00000404525.1_Missense_Mutation_p.F99L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	425	EGF-like 2.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTCCAAATTTCACAGGAAAAC	0.483													39	68					8.73648e-17	1.13869e-16	1	0	A	33411996	C	A	33411996	3	1	61	1	0	0	0	0	1	0	0	0	9137	825	29	2	1352	2	LTBP1	2	33411996	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	9156252	33411996	209787377	61	11852											
LTBP1	4052	broad.mit.edu	37	chr2	33525538	33525538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattgatgaatgtcagcaaGggaatctatgtgtaaacggg	14	11	12	4	1	2	2	1	2	1	0	2	3	2	3	0	2	2	2	0	2	7	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:33525538G>T	ENST00000404816.2	+	21	3609	c.3256G>T	c.(3256-3258)Ggg>Tgg	p.G1086W	LTBP1_ENST00000407925.1_Missense_Mutation_p.G760W|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1087W|LTBP1_ENST00000390003.4_Missense_Mutation_p.G761W|LTBP1_ENST00000272273.5_Missense_Mutation_p.G26W|LTBP1_ENST00000418533.2_Missense_Mutation_p.G760W|LTBP1_ENST00000402934.1_Missense_Mutation_p.G707W|LTBP1_ENST00000404525.1_Missense_Mutation_p.G707W			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1086	EGF-like 9; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATGTCAGCAAGGGAATCTATG	0.488													15	90					4.7546e-09	5.53749e-09	1	0	T	33525538	G	T	33525538	3	4	61	1	0	0	0	0	1	0	0	0	9137	1000	35	4	3393	4	LTBP1	2	33525538	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	113542	33525538	209673835	62	11853											
VRK2	7444	broad.mit.edu	37	chr2	58276056	58276056	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggaaggcaatcagtgggtActgggcaagaagattggctc	12	8	15	6	0	1	2	1	0	0	2	2	3	1	3	0	5	1	4	0	5	5	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:58276056A>T	ENST00000435505.2	+	5	835	c.90A>T	c.(88-90)gtA>gtT	p.V30V	VRK2_ENST00000412104.2_Silent_p.V30V|VRK2_ENST00000417641.2_Silent_p.V30V|VRK2_ENST00000440705.2_Silent_p.V7V|VRK2_ENST00000340157.4_Silent_p.V30V			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	30	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						ATCAGTGGGTACTGGGCAAGA	0.368													20	91					0	0	0	0	T	58276056	A	T	58276056	2	4	61	1	0	0	0	0	0	0	0	1	17316	378	14	5		5	VRK2	2	58276056	Silent	SNP	A	TCGA-CN-4727-01A-01D-1434-08	24750518	58276056	184923317	63	11854											
PEX13	5194	broad.mit.edu	37	chr2	61275876	61275876	+	Frame_Shift_Del	DEL	G	G	-																															cagttgcacctgattccattGggaaagatggagaaaagcaa																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:61275876delG	ENST00000295030.4	+	4	1221	c.1183delG	c.(1183-1185)ggfs	p.G395fs		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	395					cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			TGATTCCATTGGGAAAGATGG	0.358													33	121	---	---	---	---					-	61275876	G	-	61275876	7	5	61	1	0	1	0	1	0	0	0	0	11813	1348	47	0	1197	0	PEX13	2	61275876	Frame_Shift_Del	DEL	G	TCGA-CN-4727-01A-01D-1434-08	2999820	61275876	181923497	64	11855											
DYSF	8291	broad.mit.edu	37	chr2	71742778	71742778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaggtgatcgaggggcGccagctgccgggggtgaaca	7	5	19	10	3	0	2	0	2	0	0	2	3	1	2	3	6	3	1	3	6	1	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:71742778G>A	ENST00000258104.3	+	7	966	c.689G>A	c.(688-690)cGc>cAc	p.R230H	DYSF_ENST00000394120.2_Missense_Mutation_p.R231H|DYSF_ENST00000410041.1_Missense_Mutation_p.R262H|DYSF_ENST00000409651.1_Missense_Mutation_p.R262H|DYSF_ENST00000409744.1_Missense_Mutation_p.R231H|DYSF_ENST00000429174.2_Missense_Mutation_p.R230H|DYSF_ENST00000410020.3_Missense_Mutation_p.R262H|DYSF_ENST00000409582.3_Missense_Mutation_p.R261H|DYSF_ENST00000413539.2_Missense_Mutation_p.R261H|DYSF_ENST00000409762.1_Missense_Mutation_p.R261H|DYSF_ENST00000409366.1_Missense_Mutation_p.R231H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	230	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCGAGGGGCGCCAGCTGCCG	0.592													56	160					0	0	0	0	A	71742778	G	A	71742778	3	1	61	1	0	0	0	0	1	0	0	0	4895	1087	38	1	907	1	DYSF	2	71742778	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	10466902	71742778	171456595	65	11856											
LRRTM4	80059	broad.mit.edu	37	chr2	76975838	76975838	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgttagtttgcaattctctCtaggtagatggccggtgctg	6	14	13	8	2	2	1	0	0	2	1	3	1	2	1	1	3	2	5	1	3	4	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:76975838C>G	ENST00000409911.1	-	3	1982	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	LRRTM4_ENST00000409093.1_Missense_Mutation_p.E586Q|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E586Q	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	586						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCAATTCTCTCTAGGTAGATG	0.597													45	124					0	0	0	0	G	76975838	C	G	76975838	3	3	61	1	0	0	0	0	1	0	0	0	9106	922	32	2	20	2	LRRTM4	2	76975838	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	5233060	76975838	166223535	66	11857											
REG1A	5967	broad.mit.edu	37	chr2	79349177	79349177	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacccaggccgagggtgccTttgtggcctcactgattaag	7	10	12	12	1	2	1	2	1	0	0	2	2	2	1	4	3	1	0	4	3	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:79349177T>A	ENST00000233735.1	+	4	350	c.247T>A	c.(247-249)Ttt>Att	p.F83I		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	83	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CGAGGGTGCCTTTGTGGCCTC	0.522													29	111					0	0	0	0	A	79349177	T	A	79349177	3	1	61	1	0	0	0	0	1	0	0	0	13292	1609	56	5	257	5	REG1A	2	79349177	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	2373339	79349177	163850196	67	11858											
AFF3	3899	broad.mit.edu	37	chr2	100625372	100625372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgttctttcctccgtaatgCatttctatctggttcataga	7	18	6	10	2	4	1	1	0	3	1	7	1	6	1	2	1	1	4	2	1	3	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:100625372C>T	ENST00000317233.4	-	4	311	c.76G>A	c.(76-78)Gca>Aca	p.A26T	AFF3_ENST00000356421.2_Missense_Mutation_p.A51T|AFF3_ENST00000409236.1_Missense_Mutation_p.A26T|AFF3_ENST00000409579.1_Missense_Mutation_p.A51T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	26					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTCCGTAATGCATTTCTATCT	0.398													8	29					0	0	0	0	T	100625372	C	T	100625372	3	4	61	1	0	0	0	0	1	0	0	0	358	710	25	4	3688	4	AFF3	2	100625372	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	21276195	100625372	142574001	68	11859											
DPP10	57628	broad.mit.edu	37	chr2	115200370	115200370	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacatgaaccaaactgcCagcgtgtcccatcacatcaa	15	7	6	13	1	2	2	2	2	0	0	3	2	3	2	3	0	5	0	3	0	4	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:115200370C>A	ENST00000410059.1	+	1	495	c.15C>A	c.(13-15)gcC>gcA	p.A5A		NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	5	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACCAAACTGCCAGCGTGTCCC	0.468													15	47					3.32936e-07	3.72067e-07	1	0	A	115200370	C	A	115200370	2	1	61	1	0	0	0	0	0	0	0	1	4763	581	21	4		4	DPP10	2	115200370	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	14574998	115200370	127999003	69	11860											
LIMS2	55679	broad.mit.edu	37	chr2	128414981	128414981	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtagtgtcctcacctcaTagaagagcccctcggggaag	10	8	11	12	1	3	2	3	0	0	2	5	3	4	3	4	2	1	1	4	2	4	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:128414981T>G	ENST00000409455.1	-	2	787	c.152A>C	c.(151-153)tAt>tCt	p.Y51S	LIMS2_ENST00000545738.2_Missense_Mutation_p.Y78S|LIMS2_ENST00000410011.1_Missense_Mutation_p.Y51S|LIMS2_ENST00000324938.5_Missense_Mutation_p.Y80S|LIMS2_ENST00000355119.4_Missense_Mutation_p.Y56S|LIMS2_ENST00000409808.2_Missense_Mutation_p.Y51S			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	56	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CCTCACCTCATAGAAGAGCCC	0.627													55	105					0	0	0	0	G	128414981	T	G	128414981	3	3	61	1	0	0	0	0	1	0	0	0	8858	1406	49	5	894	5	LIMS2	2	128414981	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	13214611	128414981	114784392	70	11861											
CXCR4	7852	broad.mit.edu	37	chr2	136872794	136872794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggtcttgagggccttgCgcttctggtggcccttggag	2	13	16	10	1	2	1	0	1	2	0	2	2	2	2	2	5	1	1	2	5	0	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:136872794C>G	ENST00000409817.1	-	1	1019	c.716G>C	c.(715-717)cGc>cCc	p.R239P	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.R235P	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	235					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GAGGGCCTTGCGCTTCTGGTG	0.522													100	173					0	0	0	0	G	136872794	C	G	136872794	3	3	61	1	0	0	0	0	1	0	0	0	4125	768	27	3	358	3	CXCR4	2	136872794	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	8457813	136872794	106326579	71	11862											
THSD7B	80731	broad.mit.edu	37	chr2	138376011	138376011	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaccctgtggtcaaggcgtCaggacccgcctgctaagctg	7	7	13	14	2	2	0	2	0	0	0	2	1	2	1	3	3	2	3	3	3	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:138376011C>T	ENST00000409968.1	+	19	3793	c.3615C>T	c.(3613-3615)gtC>gtT	p.V1205V	THSD7B_ENST00000413152.2_Silent_p.V1177V|THSD7B_ENST00000272643.3_Silent_p.V1208V|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCAAGGCGTCAGGACCCGCC	0.507													6	42					0	0	0	0	T	138376011	C	T	138376011	2	4	61	1	0	0	0	0	0	0	0	1	15974	813	29	2		2	THSD7B	2	138376011	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1503217	138376011	104823362	72	11863											
NR4A2	4929	broad.mit.edu	37	chr2	157182511	157182511	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttccttgagcccgtgtctCtctgcagaaaacataatcag	10	11	9	11	1	3	2	1	1	2	1	5	2	4	2	2	1	3	2	2	1	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:157182511C>A	ENST00000339562.4	-	8	1904	c.1540_splice	c.e8-1	p.E514_splice	NR4A2_ENST00000409108.2_Splice_Site_p.E480_splice|NR4A2_ENST00000429376.1_Splice_Site_p.E417_splice|NR4A2_ENST00000426264.1_Splice_Site_p.E451_splice|NR4A2_ENST00000539077.1_Splice_Site_p.E525_splice|NR4A2_ENST00000409572.1_Splice_Site_p.E514_splice	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	514					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GCCCGTGTCTCTCTGCAGAAA	0.423													9	62					0.000274275	0.000291355	1	0	A	157182511	C	A	157182511	5	1	61	1	0	0	0	0	0	0	1	0	10704	927	32	2	258	2	NR4A2	2	157182511	Splice_Site	SNP	C	TCGA-CN-4727-01A-01D-1434-08	18806500	157182511	86016862	73	11864											
XIRP2	129446	broad.mit.edu	37	chr2	168115442	168115442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcagtcctgtgcagcctGctccaaaaccaagcctcagc	9	7	9	16	0	1	0	1	0	0	0	3	0	3	0	5	1	6	3	5	1	3	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:168115442G>T	ENST00000409728.1	+	11	2574	c.2485G>T	c.(2485-2487)Gct>Tct	p.A829S	XIRP2_ENST00000420519.1_Missense_Mutation_p.A829S|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.A796S|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.A796S|XIRP2_ENST00000409605.1_Missense_Mutation_p.A574S	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	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						TGTGCAGCCTGCTCCAAAACC	0.438													16	37					2.32078e-09	2.71382e-09	1	0	T	168115442	G	T	168115442	3	4	61	1	0	0	0	0	1	0	0	0	17526	1319	46	4	11803	4	XIRP2	2	168115442	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	10932931	168115442	75083931	74	11865											
LRP2	4036	broad.mit.edu	37	chr2	170063612	170063612	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtctctgcccatagtcagcCcagaagaggtatctgttctt	8	12	10	11	0	4	2	1	0	3	2	5	2	4	2	2	2	2	2	2	2	3	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:170063612C>A	ENST00000263816.3	-	39	6903	c.6618G>T	c.(6616-6618)tgG>tgT	p.W2206C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2206					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATAGTCAGCCCAGAAGAGGT	0.483													114	249					5.16181e-52	7.96236e-52	1	0	A	170063612	C	A	170063612	3	1	61	1	0	0	0	0	1	0	0	0	9020	624	22	4	7513	4	LRP2	2	170063612	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1948170	170063612	73135761	75	11866											
GAD1	2571	broad.mit.edu	37	chr2	171702239	171702240	+	Frame_Shift_Ins	INS	-	-	G																															actattccataaagaaagctINSggggctgcacttggctttgg																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:171702239_171702240insG	ENST00000358196.3	+	9	1441_1442	c.891_892insG	c.(889-894)gcgggcfs	p.AG297fs		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	297					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TAAAGAAAGCTGGGGCTGCACT	0.426													57	131	---	---	---	---					G	171702240	-	G	171702239	7	5	61	1	0	1	1	0	0	0	0	0	6227	1567	55	0	962	0	GAD1	2	171702239	Frame_Shift_Ins	INS	-	TCGA-CN-4727-01A-01D-1434-08	1638627	171702239	71497134	76	11867											
ITGA6	3655	broad.mit.edu	37	chr2	173333907	173333907	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatacgaagcaggaatccCgagacatctttgggcggtgt	11	10	12	8	3	1	1	0	0	1	1	2	4	2	2	1	3	2	1	1	3	4	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:173333907C>G	ENST00000375221.2	+	4	645	c.442C>G	c.(442-444)Cga>Gga	p.R148G	ITGA6_ENST00000409080.1_Missense_Mutation_p.R148G|ITGA6_ENST00000264107.7_Missense_Mutation_p.R148G|ITGA6_ENST00000264106.6_Missense_Mutation_p.R148G|ITGA6_ENST00000343713.4_Missense_Mutation_p.R148G|ITGA6_ENST00000409532.1_Missense_Mutation_p.R34G			P23229	ITA6_HUMAN	integrin, alpha 6	148					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GCAGGAATCCCGAGACATCTT	0.458													56	374					0	0	0	0	G	173333907	C	G	173333907	3	3	61	1	0	0	0	0	1	0	0	0	7933	644	23	3	456	3	ITGA6	2	173333907	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1631668	173333907	69865466	77	11868											
TTN	7273	broad.mit.edu	37	chr2	179529453	179529453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggacaatttcttggaGagcttcaggcactttaagaa	12	12	10	7	0	3	2	2	0	1	2	3	4	3	3	0	3	1	2	0	3	3	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:179529453G>T	ENST00000589042.1	-	167	36354	c.36130C>A	c.(36130-36132)Ctc>Atc	p.L12044I	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10192	Ig-like 80.						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)			ATTTCTTGGAGAGCTTCAGGC	0.383													41	26					3.54909e-21	4.83209e-21	1	0	T	179529453	G	T	179529453	3	4	61	1	0	0	0	0	1	0	0	0	16831	957	33	2		2	TTN	2	179529453	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	6195546	179529453	63669920	78	11869											
TTN	7273	broad.mit.edu	37	chr2	179593122	179593122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgatggaggaatattttGatctgtccaatgcaaacagc	14	11	10	6	0	1	2	0	2	1	0	2	5	2	4	1	2	3	1	1	2	5	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:179593122G>T	ENST00000589042.1	-	67	19653	c.19429C>A	c.(19429-19431)Caa>Aaa	p.Q6477K	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q5233K|TTN_ENST00000591111.1_Missense_Mutation_p.Q6160K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6160	Ig-like 46.						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)			GGAATATTTTGATCTGTCCAA	0.373													13	14					9.05144e-12	1.10291e-11	1	0	T	179593122	G	T	179593122	3	4	61	1	0	0	0	0	1	0	0	0	16831	1299	45	2	85284	2	TTN	2	179593122	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	63669	179593122	63606251	79	11870											
ZNF804A	91752	broad.mit.edu	37	chr2	185803442	185803442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactgttttgcagcagcacGctgcagctgctgcagctgca	8	9	11	13	1	0	0	0	0	0	0	0	0	0	0	0	0	9	11	0	0	0	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:185803442G>T	ENST00000302277.6	+	4	3913	c.3319G>T	c.(3319-3321)Gct>Tct	p.A1107S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1107						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gcagcagcacgctgcagctgc	0.547													22	22					1.26612e-14	1.61041e-14	1	0	T	185803442	G	T	185803442	3	4	61	1	0	0	0	0	1	0	0	0	18263	1087	38	3	3333	3	ZNF804A	2	185803442	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	6210320	185803442	57395931	80	11871											
ZNF804A	91752	broad.mit.edu	37	chr2	185803545	185803545	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatcccagctctcaccagaaCctcattacctcagctctcag	11	9	4	17	0	4	1	4	0	2	1	7	1	5	1	4	0	4	2	4	0	3	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:185803545C>A	ENST00000302277.6	+	4	4016	c.3422C>A	c.(3421-3423)aCc>aAc	p.T1141N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1141						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTCACCAGAACCTCATTACCT	0.537													79	75					9.42754e-34	1.38781e-33	1	0	A	185803545	C	A	185803545	3	1	61	1	0	0	0	0	1	0	0	0	18263	507	18	4	3436	4	ZNF804A	2	185803545	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	103	185803545	57395828	81	11872											
SF3B1	23451	broad.mit.edu	37	chr2	198263186	198263186	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgggtaatctgcttaccTgtcagcaatacgaccaacaa	12	10	9	10	1	2	0	1	0	1	0	2	1	2	0	2	1	5	3	2	1	6	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:198263186T>A	ENST00000335508.5	-	21	3224	c.3134_splice	c.e21+1	p.R1045_splice		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1045					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTGCTTACCTGTCAGCAATA	0.338			Mis		myelodysplastic syndrome								4	225					0	0	0	0	A	198263186	T	A	198263186	5	1	61	1	0	0	0	0	0	0	1	0	14236	1594	55	5	801	5	SF3B1	2	198263186	Splice_Site	SNP	T	TCGA-CN-4727-01A-01D-1434-08	12459641	198263186	44936187	82	11873											
ERBB4	2066	broad.mit.edu	37	chr2	212488770	212488770	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagttaatggttccaccaaCtgcaaagcggaaagaagaag	16	6	12	7	1	0	2	0	0	0	2	1	4	1	4	2	3	3	3	2	3	6	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:212488770C>A	ENST00000342788.4	-	18	2390		c.e18-1		ERBB4_ENST00000436443.1_Splice_Site|ERBB4_ENST00000402597.1_Splice_Site	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTTCCACCAACTGCAAAGCGG	0.448										TSP Lung(8;0.080)			47	39					1.83081e-24	2.58992e-24	1	0	A	212488770	C	A	212488770	5	1	61	1	0	0	0	0	0	0	1	0	5247	579	20	4	1891	4	ERBB4	2	212488770	Splice_Site	SNP	C	TCGA-CN-4727-01A-01D-1434-08	14225584	212488770	30710603	83	11874											
ABCB6	10058	broad.mit.edu	37	chr2	220083227	220083227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacagcgaatcagcaccagCgggccgctcccggcgtctgc	8	4	13	16	5	2	1	1	0	1	1	3	2	3	1	3	2	4	2	3	2	1	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:220083227C>A	ENST00000265316.3	-	1	485	c.169G>T	c.(169-171)Gct>Tct	p.A57S	ABCB6_ENST00000439002.2_Missense_Mutation_p.A57S	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	57					cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGCACCAGCGGGCCGCTCC	0.687													8	11					3.09899e-07	3.46991e-07	1	0	A	220083227	C	A	220083227	3	1	61	1	0	0	0	0	1	0	0	0	45	768	27	3	2435	3	ABCB6	2	220083227	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	7594457	220083227	23116146	84	11875											
CNTN6	27255	broad.mit.edu	37	chr3	1337387	1337387	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttgtacattgccaaagTggaaccatcagatgtgggca	14	9	10	8	0	1	1	1	0	0	1	1	2	1	2	2	2	4	2	2	2	4	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:1337387T>A	ENST00000446702.2	+	6	1184	c.557T>A	c.(556-558)gTg>gAg	p.V186E	CNTN6_ENST00000350110.2_Missense_Mutation_p.V186E|CNTN6_ENST00000539053.1_Missense_Mutation_p.V114E			Q9UQ52	CNTN6_HUMAN	contactin 6	186	Ig-like C2-type 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTGCCAAAGTGGAACCATCA	0.443													21	70					0	0	0	0	A	1337387	T	A	1337387	3	1	61	1	0	0	0	0	1	0	0	0	3675	1696	59	5	575	5	CNTN6	3	1337387	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08		1337387	196685043	85	11876											
TRIM71	131405	broad.mit.edu	37	chr3	32933213	32933213	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctcaaggcagcggctttggGcagatggaccgcccttccgg	6	7	15	13	3	1	1	1	0	0	1	2	2	2	2	3	5	1	4	3	5	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:32933213G>A	ENST00000383763.4	+	4	2580	c.2517G>A	c.(2515-2517)ggG>ggA	p.G839G		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	839					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCGGCTTTGGGCAGATGGACC	0.547													46	220					0	0	0	0	A	32933213	G	A	32933213	2	1	61	1	0	0	0	0	0	0	0	1	16639	1190	42	4		4	TRIM71	3	32933213	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	31595826	32933213	165089217	86	11877											
SCN11A	11280	broad.mit.edu	37	chr3	38888746	38888746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggctgtattgaagttCtctaaaatcacagcaatgta	13	13	8	7	0	3	1	2	1	1	0	4	1	3	1	0	1	1	5	0	1	6	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:38888746C>A	ENST00000302328.3	-	26	5013	c.4815G>T	c.(4813-4815)gaG>gaT	p.E1605D	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1567D|SCN11A_ENST00000450244.1_Missense_Mutation_p.E1605D	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1605					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TATTGAAGTTCTCTAAAATCA	0.408													5	199					0.014758	0.0152307	1	0	A	38888746	C	A	38888746	3	1	61	1	0	0	0	0	1	0	0	0	14000	912	32	2	564	2	SCN11A	3	38888746	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	5955533	38888746	159133684	87	11878											
SLC6A20	54716	broad.mit.edu	37	chr3	45800531	45800531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaaagtccccagggccGccagggggatgcacatggtg	11	4	15	11	1	0	0	0	0	0	0	1	2	1	1	4	4	2	1	4	4	3	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:45800531G>T	ENST00000358525.4	-	11	1833	c.1718C>A	c.(1717-1719)gCg>gAg	p.A573E	SLC6A20_ENST00000353278.4_Missense_Mutation_p.A536E|SLC6A20_ENST00000456124.2_Intron	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	573					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCCCAGGGCCGCCAGGGGGAT	0.612													42	39					2.54651e-27	3.64685e-27	1	0	T	45800531	G	T	45800531	3	4	61	1	0	0	0	0	1	0	0	0	14772	1087	38	3	64	3	SLC6A20	3	45800531	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	6911785	45800531	152221899	88	11879											
PTH1R	5745	broad.mit.edu	37	chr3	46944837	46944837	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaaaggcacgcagcgggagCagcagctatagctacggccc	11	3	14	13	4	0	0	0	0	0	0	0	2	0	1	1	3	6	6	1	3	4	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:46944837C>A	ENST00000313049.5	+	14	1676	c.1473C>A	c.(1471-1473)agC>agA	p.S491R	PTH1R_ENST00000430002.2_Missense_Mutation_p.S491R|PTH1R_ENST00000418619.1_Missense_Mutation_p.S491R|PTH1R_ENST00000449590.1_Missense_Mutation_p.S491R			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	491						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GCAGCGGGAGCAGCAGCTATA	0.622													24	23					7.4402e-23	1.02991e-22	1	0	A	46944837	C	A	46944837	3	1	61	1	0	0	0	0	1	0	0	0	12838	709	25	4	1527	4	PTH1R	3	46944837	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1144306	46944837	151077593	89	11880											
CELSR3	1951	broad.mit.edu	37	chr3	48696506	48696506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgcccaataatgcccgacgGgaaggtgtctgaacggttgg	9	7	15	10	4	1	1	0	1	1	0	1	3	1	2	2	4	2	1	2	4	4	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:48696506G>T	ENST00000544264.1	-	1	3842	c.3562C>A	c.(3562-3564)Ccg>Acg	p.P1188T	CELSR3_ENST00000164024.4_Missense_Mutation_p.P1188T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1188	Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGCCCGACGGGAAGGTGTCT	0.537													61	52					2.91325e-39	4.42326e-39	1	0	T	48696506	G	T	48696506	3	4	61	1	0	0	0	0	1	0	0	0	3252	1232	43	4	6516	4	CELSR3	3	48696506	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1751669	48696506	149325924	90	11881											
WDR6	11180	broad.mit.edu	37	chr3	49050668	49050668	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaccctgccctctctgcaCgggaagcagggtgtgacctc	6	9	11	15	1	2	1	0	1	2	0	4	2	2	2	3	2	4	2	3	2	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:49050668C>G	ENST00000395474.3	+	2	2071	c.1791C>G	c.(1789-1791)caC>caG	p.H597Q	WDR6_ENST00000448293.1_Missense_Mutation_p.H516Q|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000415265.2_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	567					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCTCTCTGCACGGGAAGCAGG	0.597													4	55					0	0	0	0	G	49050668	C	G	49050668	3	3	61	1	0	0	0	0	1	0	0	0	17406	535	19	3	1797	3	WDR6	3	49050668	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	354162	49050668	148971762	91	11882											
NISCH	11188	broad.mit.edu	37	chr3	52526337	52526337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcaccctggaccactttGgggaggtgccaggtggcccg	5	8	16	12	1	1	0	1	0	0	0	1	2	1	2	4	6	1	0	4	6	0	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:52526337G>A	ENST00000345716.4	+	21	4488	c.4354G>A	c.(4354-4356)Ggg>Agg	p.G1452R	NISCH_ENST00000479054.1_Missense_Mutation_p.G1452R	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1452					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GGACCACTTTGGGGAGGTGCC	0.617													166	160					0	0	0	0	A	52526337	G	A	52526337	3	1	61	1	0	0	0	0	1	0	0	0	10502	1348	47	4	4436	4	NISCH	3	52526337	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	3475669	52526337	145496093	92	11883											
CNTN3	5067	broad.mit.edu	37	chr3	74334568	74334568	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcaggccccgtagtctGgctgatgtctcatttcctgc	4	14	9	14	1	4	1	2	1	3	0	6	1	5	1	3	2	1	2	3	2	1	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:74334568G>C	ENST00000263665.6	-	19	2619	c.2592C>G	c.(2590-2592)gcC>gcG	p.A864A		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	864	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCCGTAGTCTGGCTGATGTCT	0.547													44	163					0	0	0	0	C	74334568	G	C	74334568	2	2	61	1	0	0	0	0	0	0	0	1	3672	1335	47	4		4	CNTN3	3	74334568	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	21808231	74334568	123687862	93	11884											
ROBO2	6092	broad.mit.edu	37	chr3	77629206	77629206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtattcaataccgggtaGaggttgcagctagtaccagt	11	10	12	8	1	1	1	1	0	0	1	1	1	1	1	2	3	4	6	2	3	6	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:77629206G>A	ENST00000461745.1	+	16	3337	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	ROBO2_ENST00000332191.8_Missense_Mutation_p.E813K|ROBO2_ENST00000487694.3_Missense_Mutation_p.E829K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	813	Fibronectin type-III 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATACCGGGTAGAGGTTGCAGC	0.438													47	58					0	0	0	0	A	77629206	G	A	77629206	3	1	61	1	0	0	0	0	1	0	0	0	13599	943	33	2	2501	2	ROBO2	3	77629206	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	3294638	77629206	120393224	94	11885											
CADM2	253559	broad.mit.edu	37	chr3	86114784	86114784	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttggctggccagaatggcCctgaccatgctctcatagga	8	10	11	12	0	1	2	1	1	1	1	2	3	1	3	3	4	1	2	3	4	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:86114784C>G	ENST00000383699.3	+	9	1627	c.1000C>G	c.(1000-1002)Cct>Gct	p.P334A	CADM2_ENST00000407528.2_Missense_Mutation_p.P365A|CADM2_ENST00000405615.2_Missense_Mutation_p.P367A	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	365	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.P334T(1)|p.P367T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CCAGAATGGCCCTGACCATGC	0.403													37	37					0	0	0	0	G	86114784	C	G	86114784	3	3	61	1	0	0	0	0	1	0	0	0	2592	623	22	4	1198	4	CADM2	3	86114784	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	8485578	86114784	111907646	95	11886											
PROS1	5627	broad.mit.edu	37	chr3	93615516	93615516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actttgtgtcaaggttcaagGgaaggcacactgaaacaacc	14	8	10	9	0	2	1	2	1	0	0	2	2	2	2	1	3	2	2	1	3	5	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:93615516G>A	ENST00000394236.3	-	9	1185	c.869C>T	c.(868-870)cCc>cTc	p.P290L	PROS1_ENST00000407433.1_Missense_Mutation_p.P159L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	290					leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AAGGTTCAAGGGAAGGCACAC	0.368													60	176					0	0	0	0	A	93615516	G	A	93615516	3	1	61	1	0	0	0	0	1	0	0	0	12638	1232	43	4	1189	4	PROS1	3	93615516	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	7500732	93615516	104406914	96	11887											
COL8A1	1295	broad.mit.edu	37	chr3	99514875	99514875	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgctgctgctcaggccCggagaccgggtgttcctcca	5	8	14	14	2	1	1	1	0	0	1	3	2	3	1	4	3	3	5	4	3	0	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:99514875C>A	ENST00000261037.3	+	5	2510	c.2130C>A	c.(2128-2130)ccC>ccA	p.P710P	COL8A1_ENST00000273342.4_Silent_p.P710P	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	710	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TGCTCAGGCCCGGAGACCGGG	0.542													27	76					1.17739e-12	1.45605e-12	1	0	A	99514875	C	A	99514875	2	1	61	1	0	0	0	0	0	0	0	1	3735	639	23	3		3	COL8A1	3	99514875	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	5899359	99514875	98507555	97	11888											
NFKBIZ	64332	broad.mit.edu	37	chr3	101572505	101572505	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcttcagcatgatgcccAgcagcgcctgtgaggccatg	9	7	12	13	1	1	2	1	2	0	0	1	2	1	2	3	1	5	3	3	1	0	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:101572505A>T	ENST00000326172.5	+	5	1250	c.1135A>T	c.(1135-1137)Agc>Tgc	p.S379C	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.S279C|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.S257C	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	379	Required for transcriptional activity (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CATGATGCCCAGCAGCGCCTG	0.493													64	139					0	0	0	0	T	101572505	A	T	101572505	3	4	61	1	0	0	0	0	1	0	0	0	10453	188	7	5	1153	5	NFKBIZ	3	101572505	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	2057630	101572505	96449925	98	11889											
SIDT1	54847	broad.mit.edu	37	chr3	113323815	113323815	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatccagctggtcattaccTatcagacagtaagtgctgcc	10	11	9	11	0	2	2	2	1	0	1	3	2	3	2	3	1	4	3	3	1	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:113323815T>A	ENST00000264852.4	+	14	2122	c.1396T>A	c.(1396-1398)Tat>Aat	p.Y466N	SIDT1_ENST00000393830.3_Missense_Mutation_p.Y466N|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	466						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GGTCATTACCTATCAGACAGT	0.498													35	103					0	0	0	0	A	113323815	T	A	113323815	3	1	61	1	0	0	0	0	1	0	0	0	14390	1522	53	5	1450	5	SIDT1	3	113323815	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	11751310	113323815	84698615	99	11890											
DRD3	1814	broad.mit.edu	37	chr3	113858352	113858352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggtacttacttgctGggggaagccaggcctgacac	8	8	13	12	0	0	1	0	1	0	0	1	2	1	2	3	4	4	2	3	4	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:113858352G>T	ENST00000383673.2	-	5	1148	c.718C>A	c.(718-720)Cag>Aag	p.Q240K	DRD3_ENST00000467632.1_Missense_Mutation_p.Q240K|DRD3_ENST00000295881.7_Missense_Mutation_p.Q240K|DRD3_ENST00000460779.1_Missense_Mutation_p.Q240K	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	240					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CTTACTTGCTGGGGGAAGCCA	0.512													75	212					1.43161e-34	2.12362e-34	1	0	T	113858352	G	T	113858352	3	4	61	1	0	0	0	0	1	0	0	0	4794	1357	47	4	496	4	DRD3	3	113858352	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	534537	113858352	84164078	100	11891											
FSTL1	11167	broad.mit.edu	37	chr3	120121736	120121736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctcggtctcagctccatCtgcatacgtttcatcctcca	7	12	5	17	2	3	0	2	0	2	0	8	0	6	0	4	1	3	3	4	1	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:120121736C>T	ENST00000295633.3	-	9	1080	c.724G>A	c.(724-726)Gat>Aat	p.D242N	FSTL1_ENST00000424703.2_Missense_Mutation_p.D207N	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	242	VWFC.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TCAGCTCCATCTGCATACGTT	0.537													52	130					0	0	0	0	T	120121736	C	T	120121736	3	4	61	1	0	0	0	0	1	0	0	0	6125	913	32	2	214	2	FSTL1	3	120121736	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	6263384	120121736	77900694	101	11892											
POLQ	10721	broad.mit.edu	37	chr3	121195496	121195496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatatgtttctgactttcaCattctgcagtactaaagcca	11	16	5	9	0	3	1	1	1	2	0	3	1	3	1	1	0	3	3	1	0	5	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:121195496C>A	ENST00000264233.5	-	20	6424	c.6296G>T	c.(6295-6297)tGt>tTt	p.C2099F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2099					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGACTTTCACATTCTGCAGT	0.428								DNA polymerases (catalytic subunits)					32	81					1.74807e-11	2.11225e-11	1	0	A	121195496	C	A	121195496	3	1	61	1	0	0	0	0	1	0	0	0	12280	478	17	4	1520	4	POLQ	3	121195496	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1073760	121195496	76826934	102	11893											
SEC61A1	29927	broad.mit.edu	37	chr3	127783719	127783719	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcctcctctgccaacaGgaatggaatttgaaggtgct	9	12	10	10	0	2	1	0	1	2	0	4	3	3	3	3	3	3	1	3	3	4	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:127783719G>A	ENST00000243253.3	+	8	800		c.e8-1		RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000464451.1_Splice_Site|SEC61A1_ENST00000424880.2_Splice_Site	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)						protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TCTGCCAACAGGAATGGAATT	0.468													36	67					0	0	0	0	A	127783719	G	A	127783719	5	1	61	1	0	0	0	0	0	0	1	0	14087	1014	35	4	646	4	SEC61A1	3	127783719	Splice_Site	SNP	G	TCGA-CN-4727-01A-01D-1434-08	6588223	127783719	70238711	103	11894											
COL6A6	131873	broad.mit.edu	37	chr3	130285860	130285860	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaaaagcaaagaagcagCgaggaaacaaagttccatgc	19	4	10	8	1	0	1	0	0	0	1	1	3	1	2	1	1	6	4	1	1	6	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:130285860C>A	ENST00000358511.6	+	4	1628	c.1597C>A	c.(1597-1599)Cga>Aga	p.R533R	COL6A6_ENST00000453409.2_Silent_p.R533R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	533	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAAGAAGCAGCGAGGAAACAA	0.483													38	112					6.53348e-20	8.83314e-20	1	0	A	130285860	C	A	130285860	2	1	61	1	0	0	0	0	0	0	0	1	3733	760	27	3		3	COL6A6	3	130285860	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	2502141	130285860	67736570	104	11895											
MED12L	116931	broad.mit.edu	37	chr3	150911327	150911327	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaatgccaacacttcgttGggcagaagaatgtcagttaa	14	9	11	7	1	1	3	1	0	0	3	2	4	1	3	1	1	2	3	1	1	5	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:150911327G>T	ENST00000474524.1	+	14	2057	c.2019G>T	c.(2017-2019)ttG>ttT	p.L673F	MED12L_ENST00000273432.4_Missense_Mutation_p.L533F|MED12L_ENST00000309237.4_Missense_Mutation_p.L708F|MED12L_ENST00000422248.2_Missense_Mutation_p.L673F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	673					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACACTTCGTTGGGCAGAAGAA	0.388													97	97					2.15199e-58	3.35525e-58	1	0	T	150911327	G	T	150911327	3	4	61	1	0	0	0	0	1	0	0	0	9498	1339	47	4	2073	4	MED12L	3	150911327	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	20625467	150911327	47111103	105	11896											
SI	6476	broad.mit.edu	37	chr3	164741477	164741477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggaggtcagctgttatacCcatggatgaatagcgagctg	10	11	13	7	1	1	1	1	1	0	0	1	4	1	3	1	3	4	3	1	3	4	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:164741477C>T	ENST00000264382.3	-	26	3042	c.2980G>A	c.(2980-2982)Ggt>Agt	p.G994S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	994	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.G994C(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCTGTTATACCCATGGATGAA	0.403										HNSCC(35;0.089)			46	142					0	0	0	0	T	164741477	C	T	164741477	3	4	61	1	0	0	0	0	1	0	0	0	14385	623	22	4	2595	4	SI	3	164741477	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	13830150	164741477	33280953	106	11897											
LRRIQ4	344657	broad.mit.edu	37	chr3	169546666	169546666	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttagagaaattatacattggGcaagaccagggattcaaact	16	10	9	6	0	1	2	1	0	0	2	1	4	1	3	1	2	2	1	1	2	6	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:169546666G>T	ENST00000340806.6	+	2	1140	c.1140G>T	c.(1138-1140)ggG>ggT	p.G380G		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	380										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TATACATTGGGCAAGACCAGG	0.438													36	167					9.45814e-24	1.33149e-23	1	0	T	169546666	G	T	169546666	2	4	61	1	0	0	0	0	0	0	0	1	9095	1190	42	4		4	LRRIQ4	3	169546666	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	4805189	169546666	28475764	107	11898											
TNIK	23043	broad.mit.edu	37	chr3	170912383	170912383	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaccttttgtgttcttgatCaggtcggtgacagagccagc	7	14	11	9	1	2	3	1	2	1	1	3	3	2	3	2	2	3	1	2	2	1	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:170912383C>G	ENST00000436636.2	-	5	692	c.348G>C	c.(346-348)ctG>ctC	p.L116L	TNIK_ENST00000369326.5_Silent_p.L116L|TNIK_ENST00000357327.5_Silent_p.L116L|TNIK_ENST00000341852.6_Silent_p.L116L|TNIK_ENST00000284483.8_Silent_p.L116L|TNIK_ENST00000538048.1_Silent_p.L116L|TNIK_ENST00000488470.1_Silent_p.L116L|TNIK_ENST00000475336.1_Silent_p.L116L|TNIK_ENST00000470834.1_Silent_p.L116L|TNIK_ENST00000460047.1_Silent_p.L116L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	116	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGTTCTTGATCAGGTCGGTGA	0.468													173	197					0	0	0	0	G	170912383	C	G	170912383	2	3	61	1	0	0	0	0	0	0	0	1	16407	813	29	2		2	TNIK	3	170912383	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1365717	170912383	27110047	108	11899											
RFC4	5984	broad.mit.edu	37	chr3	186512478	186512478	+	Frame_Shift_Del	DEL	C	C	-																															tcctgacacagttaattgagCaaaatttttcactttctctc																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:186512478delC	ENST00000392481.2	-	5	660	c.379delG	c.(379-381)ctfs	p.A127fs	RFC4_ENST00000433496.1_Frame_Shift_Del_p.A127fs|RFC4_ENST00000296273.2_Frame_Shift_Del_p.A127fs	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	127					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		GTTAATTGAGCAAAATTTTTC	0.373													19	155	---	---	---	---					-	186512478	C	-	186512478	7	5	61	1	0	1	0	1	0	0	0	0	13329	710	25	0	740	0	RFC4	3	186512478	Frame_Shift_Del	DEL	C	TCGA-CN-4727-01A-01D-1434-08	15600095	186512478	11509952	109	11900											
PCGF3	10336	broad.mit.edu	37	chr4	737282	737282	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggaaatgagaaagcagaggGagttctatcacaaattgggc	15	7	13	6	1	2	2	1	1	1	2	2	5	2	4	0	3	1	2	0	3	4	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:737282G>C	ENST00000362003.5	+	7	678	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	PCGF3_ENST00000470161.2_Missense_Mutation_p.E95Q|PCGF3_ENST00000521023.2_Missense_Mutation_p.E61Q|PCGF3_ENST00000505655.2_Missense_Mutation_p.E95Q	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						AAAGCAGAGGGAGTTCTATCA	0.468													8	38					0	0	0	0	C	737282	G	C	737282	3	2	61	1	0	0	0	0	1	0	0	0	11647	1175	41	2	297	2	PCGF3	4	737282	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08		737282	190416994	110	11901											
CPLX1	10815	broad.mit.edu	37	chr4	786337	786337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcctcctccttcttggCggcgtctgggtccttctcct	0	14	9	18	3	3	0	0	0	3	0	8	0	7	0	6	3	0	1	6	3	0	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:786337C>A	ENST00000304062.6	-	3	322	c.91G>T	c.(91-93)Gcc>Tcc	p.A31S	CPLX1_ENST00000505203.1_Missense_Mutation_p.A31S	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	31					glutamate secretion	cytosol				kidney(1)|lung(2)	3				Colorectal(103;0.187)		TCCTTCTTGGCGGCGTCTGGG	0.657													31	113					4.31634e-10	5.09873e-10	1	0	A	786337	C	A	786337	3	1	61	1	0	0	0	0	1	0	0	0	3834	768	27	3	321	3	CPLX1	4	786337	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	49055	786337	190367939	111	11902											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306406	2306406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcagttggtggccccaGtgctaagcttgtgggggccg	6	8	18	9	1	0	0	0	0	0	0	0	1	0	0	3	5	2	4	3	5	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:2306406G>T	ENST00000290974.2	-	8	2000	c.1661C>A	c.(1660-1662)aCt>aAt	p.T554N	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.T484N|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.T524N|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	554					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGTGGCCCCAGTGCTAAGCTT	0.687													7	51					7.48243e-07	8.2663e-07	1	0	T	2306406	G	T	2306406	3	4	61	1	0	0	0	0	1	0	0	0	17765	1029	36	4	1026	4	ZFYVE28	4	2306406	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1520069	2306406	188847870	112	11903											
NOP14	8602	broad.mit.edu	37	chr4	2940652	2940652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactttccgctttctttccGcatccctaaaagaaacaaaa	13	13	3	12	2	1	1	0	0	1	1	4	1	4	1	3	0	2	2	3	0	6	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:2940652G>A	ENST00000416614.2	-	18	2545	c.2480C>T	c.(2479-2481)gCg>gTg	p.A827V	NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000512802.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000507999.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.A827V|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000502735.1_Intron|NOP14_ENST00000507120.1_Intron|NOP14_ENST00000398071.4_Intron			P78316	NOP14_HUMAN	NOP14 nucleolar protein	827					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTTTCTTTCCGCATCCCTAAA	0.428													4	134					0	0	0	0	A	2940652	G	A	2940652	3	1	61	1	0	0	0	0	1	0	0	0	10606	1087	38	1	97	1	NOP14	4	2940652	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	634246	2940652	188213624	113	11904											
SLIT2	9353	broad.mit.edu	37	chr4	20597443	20597443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacggctatacgtgcatatgCcccgaaggttacaggtaaaa	14	8	10	9	3	0	0	0	0	0	0	0	1	0	0	2	3	5	4	2	3	8	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:20597443C>T	ENST00000504154.1	+	31	3558	c.3306C>T	c.(3304-3306)tgC>tgT	p.C1102C	SLIT2_ENST00000503823.1_Silent_p.C1094C|SLIT2_ENST00000503837.1_Silent_p.C1098C|SLIT2_ENST00000273739.5_Silent_p.C1115C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1102	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGTGCATATGCCCCGAAGGTT	0.438													4	154					0	0	0	0	T	20597443	C	T	20597443	2	4	61	1	0	0	0	0	0	0	0	1	14828	747	26	4		4	SLIT2	4	20597443	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	17656791	20597443	170556833	114	11905											
GBA3	57733	broad.mit.edu	37	chr4	22729204	22729204	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtttctcaatagtagAggggtcatctctgagatcaa	11	11	12	7	0	4	2	3	1	2	2	6	3	4	2	0	4	0	3	0	4	4	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:22729204A>T	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						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						TCAATAGTAGAGGGGTCATCT	0.458													88	352					0	0	0	0	T	22729204	A	T	22729204	1	4	61	0	1	0	0	0	0	0	0	0	6317	319	11	5		5	GBA3	4	22729204	RNA	SNP	A	TCGA-CN-4727-01A-01D-1434-08	2131761	22729204	168425072	115	11906											
PI4K2B	55300	broad.mit.edu	37	chr4	25256888	25256888	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcattgtacctaaaacaaagGtaagccagactttattttta	15	13	6	7	0	0	1	0	0	0	1	0	1	0	1	2	1	3	3	2	1	7	9			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:25256888G>A	ENST00000264864.6	+	3	813		c.e3+1		PI4K2B_ENST00000512921.1_Splice_Site	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta							cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				TAAAACAAAGGTAAGCCAGAC	0.403													29	107					0	0	0	0	A	25256888	G	A	25256888	5	1	61	1	0	0	0	0	0	0	1	0	11944	1275	44	4	635	4	PI4K2B	4	25256888	Splice_Site	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2527684	25256888	165897388	116	11907											
SEL1L3	23231	broad.mit.edu	37	chr4	25780751	25780751	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggttgcctgtgatataGtagagagaacaccacaaggt	13	9	11	8	0	0	3	0	1	0	2	1	4	1	3	3	2	2	2	3	2	5	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:25780751G>A	ENST00000399878.3	-	16	2654	c.2532C>T	c.(2530-2532)taC>taT	p.Y844Y	SEL1L3_ENST00000502949.1_Silent_p.Y691Y|SEL1L3_ENST00000264868.5_Silent_p.Y809Y	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	844						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTGTGATATAGTAGAGAGAAC	0.443													24	114					0	0	0	0	A	25780751	G	A	25780751	2	1	61	1	0	0	0	0	0	0	0	1	14099	1024	36	4		4	SEL1L3	4	25780751	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	523863	25780751	165373525	117	11908											
GABRG1	2565	broad.mit.edu	37	chr4	46060593	46060593	+	Frame_Shift_Del	DEL	G	G	-																															ttaggatcagccacttctacGgagggctttttccacttata																								rs139684526	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:46060593delG	ENST00000295452.4	-	6	839	c.672delC	c.(670-672)tcfs	p.S224fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	224					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCACTTCTACGGAGGGCTTTT	0.353													30	62	---	---	---	---					-	46060593	G	-	46060593	7	5	61	1	0	1	0	1	0	0	0	0	6219	1103	39	0	741	0	GABRG1	4	46060593	Frame_Shift_Del	DEL	G	TCGA-CN-4727-01A-01D-1434-08	20279842	46060593	145093683	118	11909											
TMEM165	55858	broad.mit.edu	37	chr4	56283323	56283323	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgccatttttggcattaGaatgcttcgggaaggcttaa	10	15	10	6	1	0	1	0	0	0	1	1	2	0	2	1	3	2	3	1	3	4	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:56283323G>C	ENST00000381334.5	+	3	751	c.518G>C	c.(517-519)aGa>aCa	p.R173T	TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Missense_Mutation_p.R110T|TMEM165_ENST00000506198.1_Intron	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	173						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TTTGGCATTAGAATGCTTCGG	0.398													37	178					0	0	0	0	C	56283323	G	C	56283323	3	2	61	1	0	0	0	0	1	0	0	0	16174	942	33	2	528	2	TMEM165	4	56283323	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	10222730	56283323	134870953	119	11910											
TMEM165	55858	broad.mit.edu	37	chr4	56283406	56283406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctgaattaaagaagaaaGatgaagaagtaagccatggc	20	6	11	4	0	0	6	0	2	0	4	0	6	0	6	1	1	2	2	1	1	9	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:56283406G>C	ENST00000381334.5	+	3	834	c.601G>C	c.(601-603)Gat>Cat	p.D201H	TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Missense_Mutation_p.D138H|TMEM165_ENST00000506198.1_Intron	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	201						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			AAAGAAGAAAGATGAAGAAGT	0.438													26	118					0	0	0	0	C	56283406	G	C	56283406	3	2	61	1	0	0	0	0	1	0	0	0	16174	942	33	2	611	2	TMEM165	4	56283406	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	83	56283406	134870870	120	11911											
NPFFR2	10886	broad.mit.edu	37	chr4	72897871	72897871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaacctgttgctgcagacggGcttggtggattctggttcct	5	13	14	9	1	1	1	0	0	1	1	2	3	2	2	2	4	3	5	2	4	1	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:72897871G>A	ENST00000308744.6	+	1	351	c.253G>A	c.(253-255)Gct>Act	p.A85T	NPFFR2_ENST00000344413.5_Missense_Mutation_p.A85T	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	85					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)			CTGCAGACGGGCTTGGTGGAT	0.672													14	29					0	0	0	0	A	72897871	G	A	72897871	3	1	61	1	0	0	0	0	1	0	0	0	10648	1203	42	4	255	4	NPFFR2	4	72897871	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	16614465	72897871	118256405	121	11912											
NPFFR2	10886	broad.mit.edu	37	chr4	73012843	73012843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaatattaccgagtgAgactcaactcccagaataaa	20	7	6	8	1	1	3	1	1	0	3	2	5	2	3	2	0	2	0	2	0	9	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:73012843A>G	ENST00000308744.6	+	4	981	c.883A>G	c.(883-885)Aga>Gga	p.R295G	NPFFR2_ENST00000395999.1_Missense_Mutation_p.R196G|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.R193G	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	295					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)			TTACCGAGTGAGACTCAACTC	0.438													87	212					0	0	0	0	G	73012843	A	G	73012843	3	3	61	1	0	0	0	0	1	0	0	0	10648	296	11	5	903	5	NPFFR2	4	73012843	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	114972	73012843	118141433	122	11913											
RASGEF1B	153020	broad.mit.edu	37	chr4	82380494	82380494	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaatacctacatctggatAgtaatccacattaggtacta	15	12	6	8	0	1	1	0	1	1	0	2	2	2	2	2	2	3	2	2	2	8	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:82380494A>T	ENST00000436139.2	-	2	295	c.169T>A	c.(169-171)Tat>Aat	p.Y57N	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.Y57N|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.Y57N|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.Y57N			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	57	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ACATCTGGATAGTAATCCACA	0.428													89	173					0	0	0	0	T	82380494	A	T	82380494	3	4	61	1	0	0	0	0	1	0	0	0	13152	420	15	5	1304	5	RASGEF1B	4	82380494	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	9367651	82380494	108773782	123	11914											
AFF1	4299	broad.mit.edu	37	chr4	88036203	88036203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagccgtggtggtccaggagGacagccgcaaagacagactc	12	4	14	11	2	0	2	0	0	0	2	2	4	1	4	3	4	2	1	3	4	2	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:88036203G>A	ENST00000307808.6	+	11	2617	c.2197G>A	c.(2197-2199)Gac>Aac	p.D733N	AFF1_ENST00000544085.1_Missense_Mutation_p.D371N|AFF1_ENST00000395146.4_Missense_Mutation_p.D740N	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	733						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGTCCAGGAGGACAGCCGCAA	0.607													16	30					0	0	0	0	A	88036203	G	A	88036203	3	1	61	1	0	0	0	0	1	0	0	0	356	1174	41	2	2281	2	AFF1	4	88036203	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	5655709	88036203	103118073	124	11915											
C4orf21	55345	broad.mit.edu	37	chr4	113540786	113540786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttagcctcatgtgatgcagCtgattcaccactttccataa	10	13	6	12	0	2	2	2	2	0	0	3	2	3	2	3	0	3	2	3	0	2	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:113540786C>A	ENST00000505019.1	-	6	537	c.412G>T	c.(412-414)Gct>Tct	p.A138S	C4orf21_ENST00000309071.5_Missense_Mutation_p.A138S|C4orf21_ENST00000445203.2_Missense_Mutation_p.A107S	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	138										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGTGATGCAGCTGATTCACCA	0.388													37	105					4.17593e-13	5.21992e-13	1	0	A	113540786	C	A	113540786	3	1	61	1	0	0	0	0	1	0	0	0	2275	797	28	4	5994	4	C4orf21	4	113540786	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	25504583	113540786	77613490	125	11916											
ANK2	287	broad.mit.edu	37	chr4	114238951	114238951	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggatgactcagttgtgAttcccagtcaccaggtatgt	9	13	11	8	0	2	3	2	3	0	0	3	4	3	4	2	2	0	2	2	2	1	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:114238951A>G	ENST00000357077.4	+	25	2835	c.2782A>G	c.(2782-2784)Att>Gtt	p.I928V	ANK2_ENST00000394537.3_Missense_Mutation_p.I928V|ANK2_ENST00000506722.1_Missense_Mutation_p.I907V|ANK2_ENST00000509550.1_Missense_Mutation_p.I137V|ANK2_ENST00000264366.6_Missense_Mutation_p.I928V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	928					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCAGTTGTGATTCCCAGTCA	0.473													37	69					0	0	0	0	G	114238951	A	G	114238951	3	3	61	1	0	0	0	0	1	0	0	0	621	333	12	5	2905	5	ANK2	4	114238951	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	698165	114238951	76915325	126	11917											
GYPA	2993	broad.mit.edu	37	chr4	145039886	145039886	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggttcagagaaatgatgGgcaagttgtaccctttctcc	9	12	10	10	0	2	2	1	1	1	1	3	3	2	2	3	2	1	4	3	2	3	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:145039886G>T	ENST00000360771.4	-	4	367	c.252C>A	c.(250-252)gcC>gcA	p.A84A	GYPA_ENST00000535709.1_Silent_p.A58A|GYPA_ENST00000324022.10_Silent_p.A51A|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000512064.1_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000504786.1_Silent_p.A52A|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000512789.1_Silent_p.A19A	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	84			A -> P (in ENEP/HAG antigen).		interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					AGAAATGATGGGCAAGTTGTA	0.313													44	129					8.30282e-39	1.25735e-38	1	0	T	145039886	G	T	145039886	2	4	61	1	0	0	0	0	0	0	0	1	6958	1219	43	4		4	GYPA	4	145039886	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	30800935	145039886	46114390	127	11918											
OTUD4	54726	broad.mit.edu	37	chr4	146071685	146071685	+	Frame_Shift_Del	DEL	C	C	-																															cttatgatctgtgaaggtgtCcggctaagatttttgtgctc																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:146071685delC	ENST00000454497.2	-	13	1181	c.1044delG	c.(1042-1044)cgfs	p.R348fs	OTUD4_ENST00000447906.2_Frame_Shift_Del_p.R413fs|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	412							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GTGAAGGTGTCCGGCTAAGAT	0.398													20	241	---	---	---	---					-	146071685	C	-	146071685	7	5	61	1	0	1	0	1	0	0	0	0	11385	842	30	0	2141	0	OTUD4	4	146071685	Frame_Shift_Del	DEL	C	TCGA-CN-4727-01A-01D-1434-08	1031799	146071685	45082591	128	11919											
DCHS2	54798	broad.mit.edu	37	chr4	155256095	155256095	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaactaagaaagtgtactTaggcctttcaaactcagcag	16	10	7	8	0	2	1	2	0	0	1	2	1	2	1	1	1	4	2	1	1	7	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:155256095T>A	ENST00000357232.3	-	8	1140	c.1141A>T	c.(1141-1143)Aag>Tag	p.K381*	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Nonsense_Mutation_p.K880*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	381	Cadherin 2.|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAAGTGTACTTAGGCCTTTCA	0.448													60	115					0	0	0	0	A	155256095	T	A	155256095	4	1	61	1	0	0	0	0	0	1	0	0	4320	1763	61	5	7777	5	DCHS2	4	155256095	Nonsense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	9184410	155256095	35898181	129	11920											
DDX60	55601	broad.mit.edu	37	chr4	169201720	169201720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttttcttattctctctagCaattatttcagccttggtct	6	20	4	11	0	5	0	1	0	4	0	6	0	5	0	2	1	2	1	2	1	4	8			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:169201720C>A	ENST00000393743.3	-	14	2035	c.1744G>T	c.(1744-1746)Gct>Tct	p.A582S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	582							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCTCTCTAGCAATTATTTCA	0.348													20	57					0.000229342	0.000245421	1	0	A	169201720	C	A	169201720	3	1	61	1	0	0	0	0	1	0	0	0	4410	710	25	4	3494	4	DDX60	4	169201720	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	13945625	169201720	21952556	130	11921											
DDX60L	91351	broad.mit.edu	37	chr4	169348297	169348297	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaactccaaatttcactgaAttacttgcacatgatgtcaa	14	13	4	10	0	3	2	3	2	0	0	4	2	4	2	1	0	3	1	1	0	5	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:169348297A>G	ENST00000511577.1	-	14	2101	c.1854T>C	c.(1852-1854)aaT>aaC	p.N618N	DDX60L_ENST00000260184.7_Silent_p.N618N|DDX60L_ENST00000505890.1_Silent_p.N618N			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	618							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATTTCACTGAATTACTTGCAC	0.353													14	26					0	0	0	0	G	169348297	A	G	169348297	2	3	61	1	0	0	0	0	0	0	0	1	4411	98	4	5		5	DDX60L	4	169348297	Silent	SNP	A	TCGA-CN-4727-01A-01D-1434-08	146577	169348297	21805979	131	11922											
ADAM29	11086	broad.mit.edu	37	chr4	175896751	175896751	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacatccaggatgagcacccCcaatatcacagccctccgga	12	5	7	17	1	1	1	1	1	0	0	3	3	3	3	5	2	2	1	5	2	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:175896751C>T	ENST00000359240.3	+	5	745	c.75C>T	c.(73-75)ccC>ccT	p.P25P	ADAM29_ENST00000445694.1_Silent_p.P25P|ADAM29_ENST00000514159.1_Silent_p.P25P|ADAM29_ENST00000404450.4_Silent_p.P25P	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	25					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATGAGCACCCCCAATATCACA	0.517													51	114					0	0	0	0	T	175896751	C	T	175896751	2	4	61	1	0	0	0	0	0	0	0	1	247	610	22	4		4	ADAM29	4	175896751	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	6548454	175896751	15257525	132	11923											
ASB5	140458	broad.mit.edu	37	chr4	177142615	177142615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacctttactggcggccTcatgcgttggggatggaaga	8	11	14	8	2	1	1	1	0	0	1	1	3	1	3	2	5	3	2	2	5	3	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:177142615T>C	ENST00000296525.3	-	4	634	c.521A>G	c.(520-522)gAg>gGg	p.E174G	ASB5_ENST00000512254.1_Missense_Mutation_p.E121G	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	174					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ACTGGCGGCCTCATGCGTTGG	0.493													42	219					0	0	0	0	C	177142615	T	C	177142615	3	2	61	1	0	0	0	0	1	0	0	0	1030	1551	54	5	484	5	ASB5	4	177142615	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	1245864	177142615	14011661	133	11924											
NEIL3	55247	broad.mit.edu	37	chr4	178283595	178283595	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccagtgggcagaaaatggGccaggaataaaaattattcc	15	9	10	7	0	0	1	0	0	0	1	2	2	2	2	3	3	0	1	3	3	7	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:178283595G>T	ENST00000264596.3	+	10	1906	c.1788G>T	c.(1786-1788)ggG>ggT	p.G596G		NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	596					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAGAAAATGGGCCAGGAATAA	0.363								Base excision repair (BER), DNA glycosylases					51	123					1.0442e-30	1.51409e-30	1	0	T	178283595	G	T	178283595	2	4	61	1	0	0	0	0	0	0	0	1	10390	1190	42	4		4	NEIL3	4	178283595	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1140980	178283595	12870681	134	11925											
LPCAT1	79888	broad.mit.edu	37	chr5	1474683	1474683	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggtactcacccgaggccCcgcacgagcctggcaaattc	9	5	10	17	3	1	0	1	0	0	0	2	2	1	0	5	3	2	3	5	3	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:1474683C>A	ENST00000283415.3	-	10	1149	c.1017G>T	c.(1015-1017)cgG>cgT	p.R339R		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	339					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	p.R339R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ACCCGAGGCCCCGCACGAGCC	0.612													24	24					9.86323e-18	1.30311e-17	1	0	A	1474683	C	A	1474683	2	1	61	1	0	0	0	0	0	0	0	1	8974	610	22	4		4	LPCAT1	5	1474683	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08		1474683	179440577	135	11926											
KIAA0947	23379	broad.mit.edu	37	chr5	5463278	5463278	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaacaaattctgaagattgCaatggtaaagatactggcag	17	9	9	6	0	1	3	0	1	1	2	1	3	1	3	0	2	3	3	0	2	7	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:5463278C>A	ENST00000296564.7	+	13	4053	c.3831C>A	c.(3829-3831)tgC>tgA	p.C1277*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1277										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGAAGATTGCAATGGTAAAG	0.368													3	21					0.115264	0.117907	1	0	A	5463278	C	A	5463278	4	1	61	1	0	0	0	0	0	1	0	0	8253	718	25	4	3881	4	KIAA0947	5	5463278	Nonsense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	3988595	5463278	175451982	136	11927											
ADCY2	108	broad.mit.edu	37	chr5	7727344	7727344	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctcatattcttctgcaTcttcattgtgcagattctcg	6	18	6	11	1	6	1	2	0	5	1	8	1	6	1	0	0	2	2	0	0	1	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:7727344T>A	ENST00000338316.4	+	14	1930	c.1841T>A	c.(1840-1842)aTc>aAc	p.I614N	ADCY2_ENST00000537121.1_Missense_Mutation_p.I434N|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	614					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTCTTCTGCATCTTCATTGTG	0.493													67	80					0	0	0	0	A	7727344	T	A	7727344	3	1	61	1	0	0	0	0	1	0	0	0	294	1435	50	5	1895	5	ADCY2	5	7727344	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	2264066	7727344	173187916	137	11928											
CCT5	22948	broad.mit.edu	37	chr5	10262656	10262656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatccggaacctcatccgcGataatcgtgtggtgtatgga	9	11	11	10	4	2	0	2	0	0	0	5	3	4	2	3	3	1	1	3	3	3	2	rs11557654		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:10262656G>A	ENST00000280326.4	+	9	1663	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N	CCT5_ENST00000515676.1_Missense_Mutation_p.D377N|CCT5_ENST00000506600.1_Missense_Mutation_p.D322N|CCT5_ENST00000515390.1_Missense_Mutation_p.D360N|CCT5_ENST00000503026.1_Missense_Mutation_p.D394N	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	415					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CCTCATCCGCGATAATCGTGT	0.493													30	135					0	0	0	0	A	10262656	G	A	10262656	3	1	61	1	0	0	0	0	1	0	0	0	2985	1058	37	1	1277	1	CCT5	5	10262656	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2535312	10262656	170652604	138	11929											
DNAH5	1767	broad.mit.edu	37	chr5	13721328	13721328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcggcatatttttctccCatggagtccacgatgtactt	7	15	7	12	2	1	0	0	0	1	0	4	2	2	1	3	2	1	2	3	2	2	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:13721328C>A	ENST00000265104.4	-	71	12164	c.12060G>T	c.(12058-12060)atG>atT	p.M4020I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4020	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTTTTCTCCCATGGAGTCCA	0.453									Kartagener syndrome				71	81					2.29502e-22	3.16932e-22	1	0	A	13721328	C	A	13721328	3	1	61	1	0	0	0	0	1	0	0	0	4641	594	21	4	1850	4	DNAH5	5	13721328	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	3458672	13721328	167193932	139	11930											
DNAH5	1767	broad.mit.edu	37	chr5	13792157	13792157	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcattccctgccagacccgAgaaagatctcgtaggttaaa	13	8	9	11	2	1	3	0	0	1	3	3	4	2	3	3	1	2	3	3	1	4	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:13792157A>G	ENST00000265104.4	-	50	8498	c.8394T>C	c.(8392-8394)tcT>tcC	p.S2798S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2798	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCAGACCCGAGAAAGATCTC	0.413									Kartagener syndrome				13	80					0	0	0	0	G	13792157	A	G	13792157	2	3	61	1	0	0	0	0	0	0	0	1	4641	291	11	5		5	DNAH5	5	13792157	Silent	SNP	A	TCGA-CN-4727-01A-01D-1434-08	70829	13792157	167123103	140	11931											
CDH12	1010	broad.mit.edu	37	chr5	21755861	21755861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctctggacagggtagCtgctgtcttctattacaaca	8	13	10	10	0	3	0	0	0	3	0	3	1	3	1	0	2	6	5	0	2	4	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:21755861C>G	ENST00000382254.1	-	14	2810	c.1724G>C	c.(1723-1725)aGc>aCc	p.S575T	CDH12_ENST00000504376.2_Missense_Mutation_p.S575T|CDH12_ENST00000522262.1_Missense_Mutation_p.S535T|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	575	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GACAGGGTAGCTGCTGTCTTC	0.453										HNSCC(59;0.17)			31	139					0	0	0	0	G	21755861	C	G	21755861	3	3	61	1	0	0	0	0	1	0	0	0	3127	797	28	4	668	4	CDH12	5	21755861	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	7963704	21755861	159159399	141	11932											
PRDM9	56979	broad.mit.edu	37	chr5	23522816	23522816	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagtggacaaggggcaccCcaaccgttcagccctcagtc	9	6	11	15	1	2	0	2	0	0	0	3	1	2	1	4	3	3	3	4	3	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:23522816C>G	ENST00000296682.3	+	8	886	c.704C>G	c.(703-705)cCc>cGc	p.P235R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	235					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGGGGCACCCCAACCGTTCA	0.562										HNSCC(3;0.000094)			30	55					0	0	0	0	G	23522816	C	G	23522816	3	3	61	1	0	0	0	0	1	0	0	0	12543	623	22	4	730	4	PRDM9	5	23522816	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1766955	23522816	157392444	142	11933											
PRDM9	56979	broad.mit.edu	37	chr5	23527713	23527713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgcagggagtgtgggcGgggctttcgcaataagtcac	7	10	16	8	2	2	0	1	0	1	0	3	1	2	1	0	4	1	3	0	4	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:23527713G>A	ENST00000296682.3	+	11	2698	c.2516G>A	c.(2515-2517)cGg>cAg	p.R839Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	839					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGTGTGGGCGGGGCTTTCGC	0.592										HNSCC(3;0.000094)			70	188					0	0	0	0	A	23527713	G	A	23527713	3	1	61	1	0	0	0	0	1	0	0	0	12543	1116	39	1	2554	1	PRDM9	5	23527713	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	4897	23527713	157387547	143	11934											
PRLR	5618	broad.mit.edu	37	chr5	35065550	35065550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacataatccaagggtttagCggagccaaagggggttttct	11	10	12	8	1	1	0	0	0	1	0	2	1	2	1	2	4	2	2	2	4	4	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:35065550C>A	ENST00000382002.5	-	10	1936	c.1510G>T	c.(1510-1512)Gct>Tct	p.A504S	PRLR_ENST00000342362.5_Missense_Mutation_p.A403S|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.A403S|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	504					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGGGTTTAGCGGAGCCAAAG	0.522													72	160					4.14589e-37	6.21349e-37	1	0	A	35065550	C	A	35065550	3	1	61	1	0	0	0	0	1	0	0	0	12611	768	27	3	362	3	PRLR	5	35065550	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	11537837	35065550	145849710	144	11935											
LIFR	3977	broad.mit.edu	37	chr5	38486048	38486048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgtcttctgggatatGtcagtaatattcttaacttt	9	18	7	7	0	5	0	2	0	3	0	5	1	5	1	0	1	1	1	0	1	4	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:38486048G>A	ENST00000263409.4	-	17	2532	c.2370C>T	c.(2368-2370)gaC>gaT	p.D790D	LIFR_ENST00000453190.2_Silent_p.D790D	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	790	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCTGGGATATGTCAGTAATAT	0.408			T	PLAG1	salivary adenoma								14	74					0	0	0	0	A	38486048	G	A	38486048	2	1	61	1	0	0	0	0	0	0	0	1	8834	1368	48	4		4	LIFR	5	38486048	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	3420498	38486048	142429212	145	11936											
FYB	2533	broad.mit.edu	37	chr5	39135036	39135036	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttcaatttgctctccttgCttgaagctcagttcattctt	7	19	5	10	0	5	1	3	1	2	0	6	1	5	1	1	0	3	4	1	0	2	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:39135036C>T	ENST00000351578.6	-	8	1786	c.1596G>A	c.(1594-1596)aaG>aaA	p.K532K	FYB_ENST00000515010.1_Silent_p.K532K|FYB_ENST00000512982.1_Silent_p.K532K|FYB_ENST00000505428.1_Silent_p.K532K|FYB_ENST00000540520.1_Silent_p.K542K	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	532	SH3.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTCTCCTTGCTTGAAGCTCA	0.423													60	85					0	0	0	0	T	39135036	C	T	39135036	2	4	61	1	0	0	0	0	0	0	0	1	6172	796	28	4		4	FYB	5	39135036	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	648988	39135036	141780224	146	11937											
C7	730	broad.mit.edu	37	chr5	40931225	40931225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccttggtcagaatgcaatgGctgtaccaagactcaggtag	11	9	11	10	0	2	2	2	0	0	2	2	2	2	2	2	3	2	4	2	3	5	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:40931225G>A	ENST00000313164.9	+	3	481	c.122G>A	c.(121-123)gGc>gAc	p.G41D		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	41	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAATGCAATGGCTGTACCAAG	0.423													25	54					0	0	0	0	A	40931225	G	A	40931225	3	1	61	1	0	0	0	0	1	0	0	0	2398	1203	42	4	132	4	C7	5	40931225	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1796189	40931225	139984035	147	11938											
MSH3	4437	broad.mit.edu	37	chr5	80168934	80168934	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcctttctttatttcacaGgcgcagcagaacaagtccct	9	13	6	13	1	3	1	1	0	2	1	5	1	4	1	2	1	2	2	2	1	3	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:80168934G>T	ENST00000265081.6	+	23	3210		c.e23-1			NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3						maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TTATTTCACAGGCGCAGCAGA	0.363								Mismatch excision repair (MMR)					38	120					4.17593e-13	5.21992e-13	1	0	T	80168934	G	T	80168934	5	4	61	1	0	0	0	0	0	0	1	0	9941	1014	35	4	3220	4	MSH3	5	80168934	Splice_Site	SNP	G	TCGA-CN-4727-01A-01D-1434-08	39237709	80168934	100746326	148	11939											
MEF2C	4208	broad.mit.edu	37	chr5	88027668	88027668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catattcttgttcaagttacCaggtgagaccagcagacctg	11	11	9	10	0	2	2	1	1	1	2	2	3	2	2	3	1	2	3	3	1	3	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:88027668C>T	ENST00000504921.2	-	7	1360	c.688G>A	c.(688-690)Ggt>Agt	p.G230S	MEF2C_ENST00000424173.2_Missense_Mutation_p.G228S|MEF2C_ENST00000514015.1_Missense_Mutation_p.G230S|MEF2C_ENST00000510942.1_Missense_Mutation_p.G230S|MEF2C_ENST00000514028.1_Missense_Mutation_p.G230S|MEF2C_ENST00000539796.1_Missense_Mutation_p.G182S|MEF2C_ENST00000340208.5_Missense_Mutation_p.G248S|MEF2C_ENST00000506554.1_Missense_Mutation_p.G230S|MEF2C_ENST00000437473.2_Missense_Mutation_p.G230S|MEF2C_ENST00000508569.1_Missense_Mutation_p.G230S			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	230					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTCAAGTTACCAGGTGAGACC	0.423										HNSCC(66;0.2)			10	36					0	0	0	0	T	88027668	C	T	88027668	3	4	61	1	0	0	0	0	1	0	0	0	9526	594	21	4	753	4	MEF2C	5	88027668	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	7858734	88027668	92887592	149	11940											
GPR98	84059	broad.mit.edu	37	chr5	90073745	90073745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgaggcccagggatttTgggggaggtcacagtgttct	6	12	16	7	1	2	0	1	0	1	0	3	3	2	2	1	5	0	2	1	5	0	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:90073745T>C	ENST00000405460.2	+	62	12647	c.12551T>C	c.(12550-12552)tTg>tCg	p.L4184S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4184					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAGGGATTTTGGGGGAGGTC	0.423													13	43					0	0	0	0	C	90073745	T	C	90073745	3	2	61	1	0	0	0	0	1	0	0	0	6771	1821	63	5	12797	5	GPR98	5	90073745	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	2046077	90073745	90841515	150	11941											
MCTP1	79772	broad.mit.edu	37	chr5	94619883	94619883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccgccgcgggcccctttaCggcggggagcaaatgctcgc	5	5	16	15	6	0	0	0	0	0	0	1	1	0	1	4	5	3	2	4	5	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:94619883C>A	ENST00000515393.1	-	1	396	c.397G>T	c.(397-399)Gta>Tta	p.V133L		NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	133					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGCCCCTTTACGGCGGGGAGC	0.746													4	5					1.23904e-05	1.34577e-05	1	0	A	94619883	C	A	94619883	3	1	61	1	0	0	0	0	1	0	0	0	9469	536	19	3	2755	3	MCTP1	5	94619883	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	4546138	94619883	86295377	151	11942											
SLCO4C1	353189	broad.mit.edu	37	chr5	101597728	101597728	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgcggatcatcctcagtGacatcagtgctatatgatag	11	11	9	10	2	3	2	3	2	0	0	5	3	4	3	1	1	1	1	1	1	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:101597728G>T	ENST00000310954.6	-	5	1195	c.909C>A	c.(907-909)gtC>gtA	p.V303V		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	303					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CATCCTCAGTGACATCAGTGC	0.358													13	52					1.5842e-08	1.81588e-08	1	0	T	101597728	G	T	101597728	2	4	61	1	0	0	0	0	0	0	0	1	14818	1277	45	2		2	SLCO4C1	5	101597728	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	6977845	101597728	79317532	152	11943											
PPIP5K2	23262	broad.mit.edu	37	chr5	102491630	102491630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggtatggtcatttttctgGaataaatcgtaaggttcagt	11	15	10	5	1	3	0	2	0	1	0	4	1	3	1	0	4	0	3	0	4	5	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:102491630G>A	ENST00000321521.9	+	14	1994	c.1421G>A	c.(1420-1422)gGa>gAa	p.G474E	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.G474E|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.G474E			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	474					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CATTTTTCTGGAATAAATCGT	0.333													18	34					0	0	0	0	A	102491630	G	A	102491630	3	1	61	1	0	0	0	0	1	0	0	0	12409	1174	41	2	1471	2	PPIP5K2	5	102491630	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	893902	102491630	78423630	153	11944											
STARD4	134429	broad.mit.edu	37	chr5	110835766	110835766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggatggttatatcctcgaaCaaattctggtctcttttcat	9	16	8	8	1	3	0	1	0	2	0	6	2	4	1	1	3	1	1	1	3	4	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:110835766C>T	ENST00000296632.3	-	6	570	c.436G>A	c.(436-438)Gtt>Att	p.V146I	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	146	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TATCCTCGAACAAATTCTGGT	0.363													23	72					0	0	0	0	T	110835766	C	T	110835766	3	4	61	1	0	0	0	0	1	0	0	0	15349	478	17	4	185	4	STARD4	5	110835766	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	8344136	110835766	70079494	154	11945											
SLC22A4	6583	broad.mit.edu	37	chr5	131630517	131630517	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaacaacagtgtcccgctgCggctgcgggacggccgcgag	7	4	16	14	6	0	0	0	0	0	0	1	2	1	1	2	3	4	3	2	3	2	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:131630517C>A	ENST00000200652.3	+	1	382	c.208C>A	c.(208-210)Cgg>Agg	p.R70R	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	70					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGTCCCGCTGCGGCTGCGGGA	0.721													6	23					2.0095e-06	2.20323e-06	1	0	A	131630517	C	A	131630517	2	1	61	1	0	0	0	0	0	0	0	1	14544	759	27	3		3	SLC22A4	5	131630517	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	20794751	131630517	49284743	155	11946											
MYOT	9499	broad.mit.edu	37	chr5	137206561	137206561	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctttccctgcttctcccaAgcagcatgctggctccaacc	6	11	7	17	0	1	0	0	0	1	0	4	0	3	0	4	1	6	6	4	1	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:137206561A>T	ENST00000239926.4	+	2	595	c.221A>T	c.(220-222)aAg>aTg	p.K74M	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000421631.2_Intron|MYOT_ENST00000515645.1_Intron	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	74			K -> Q (in dbSNP:rs41431944).		muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTTCTCCCAAGCAGCATGCT	0.532													32	80					0	0	0	0	T	137206561	A	T	137206561	3	4	61	1	0	0	0	0	1	0	0	0	10164	72	3	5	223	5	MYOT	5	137206561	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	5576044	137206561	43708699	156	11947											
PCDHA2	56146	broad.mit.edu	37	chr5	140175845	140175845	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcacgggacgggggctcGccttcactgtgggccaccac	6	5	14	16	4	1	0	1	0	0	0	2	1	1	1	4	4	0	2	4	4	0	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140175845G>A	ENST00000526136.1	+	1	1296	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.S432S|PCDHA2_ENST00000520672.2_Silent_p.S432S	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCACTGT	0.627													28	78					0	0	0	0	A	140175845	G	A	140175845	2	1	61	1	0	0	0	0	0	0	0	1	11595	1074	38	1		1	PCDHA2	5	140175845	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2969284	140175845	40739415	157	11948											
PCDHA3	56145	broad.mit.edu	37	chr5	140182638	140182638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggaccggcggtgcgcGcatcccgtttcgcgtggggc	2	7	18	14	7	0	0	0	0	0	0	2	1	1	1	3	5	1	2	3	5	0	1	rs146046778		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140182638G>A	ENST00000522353.2	+	1	1856	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	PCDHA3_ENST00000532566.2_Missense_Mutation_p.R619H|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1												p.R619H(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGTGCGCGCATCCCGTTT	0.672													4	70					0	0	0	0	A	140182638	G	A	140182638	3	1	61	1	0	0	0	0	1	0	0	0	11596	1087	38	1	1858	1	PCDHA3	5	140182638	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	6793	140182638	40732622	158	11949											
PCDHA5	56143	broad.mit.edu	37	chr5	140203530	140203530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaccgcgctgcggtgctcgGcgcagcccaccgaggccgtg	5	4	15	17	7	0	0	0	0	0	0	1	1	0	0	4	3	3	3	4	3	0	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140203530G>T	ENST00000529859.1	+	1	2170	c.2170G>T	c.(2170-2172)Gcg>Tcg	p.A724S	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A724S|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A724S	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGTGCTCGGCGCAGCCCAC	0.657													24	52					4.7796e-09	5.54434e-09	1	0	T	140203530	G	T	140203530	3	4	61	1	0	0	0	0	1	0	0	0	11598	1203	42	4	2172	4	PCDHA5	5	140203530	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	20892	140203530	40711730	159	11950											
PCDHA7	56141	broad.mit.edu	37	chr5	140215375	140215375	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgaaggagaacaacccGccgggctgccacatcttcac	10	7	10	14	3	2	2	1	1	1	1	3	3	2	2	3	2	3	1	3	2	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140215375G>T	ENST00000525929.1	+	1	1407	c.1407G>T	c.(1405-1407)ccG>ccT	p.P469P	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.P469P|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1												p.P469P(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCGGGCTGCC	0.682													17	47					9.57634e-11	1.14521e-10	1	0	T	140215375	G	T	140215375	2	4	61	1	0	0	0	0	0	0	0	1	11600	1074	38	3		3	PCDHA7	5	140215375	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	11845	140215375	40699885	160	11951											
PCDHA9	9752	broad.mit.edu	37	chr5	140389511	140389511	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagcacgactgacaacAgtgaccagtgaggtcctcaa	14	5	11	11	1	1	3	1	3	0	0	2	5	2	4	2	2	3	1	2	2	3	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140389511A>T	ENST00000532602.1	+	4	3875	c.2842A>T	c.(2842-2844)Agt>Tgt	p.S948C	PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Missense_Mutation_p.S947C|PCDHA7_ENST00000525929.1_Missense_Mutation_p.S935C|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.S1005C|PCDHA3_ENST00000522353.2_Missense_Mutation_p.S948C|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S683C|PCDHA12_ENST00000398631.2_Missense_Mutation_p.S939C|PCDHA8_ENST00000531613.1_Missense_Mutation_p.S948C|PCDHA2_ENST00000526136.1_Missense_Mutation_p.S946C|PCDHA4_ENST00000530339.1_Missense_Mutation_p.S945C|PCDHA10_ENST00000307360.5_Missense_Mutation_p.S946C|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Missense_Mutation_p.S934C|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S684C|PCDHA1_ENST00000504120.2_Missense_Mutation_p.S948C|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.S961C|PCDHA13_ENST00000289272.2_Missense_Mutation_p.S948C|PCDHA6_ENST00000529310.1_Missense_Mutation_p.S948C|PCDHA1_ENST00000394633.3_Missense_Mutation_p.S684C|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTGACAACAGTGACCAGTG	0.428													32	81					0	0	0	0	T	140389511	A	T	140389511	3	4	61	1	0	0	0	0	1	0	0	0	11602	188	7	5	2991	5	PCDHA9	5	140389511	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	174136	140389511	40525749	161	11952											
PCDHB6	56130	broad.mit.edu	37	chr5	140531310	140531310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctactcgctgctgccgcCccaggacccgcacctgcccc	5	5	8	23	3	0	0	0	0	0	0	1	1	0	1	8	1	4	3	8	1	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140531310C>A	ENST00000231136.1	+	1	1472	c.1472C>A	c.(1471-1473)cCc>cAc	p.P491H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P355H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		491	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCTGCCGCCCCAGGACCCG	0.657													17	118					4.35082e-09	5.07741e-09	1	0	A	140531310	C	A	140531310	3	1	61	1	0	0	0	0	1	0	0	0	11617	623	22	4	1474	4	PCDHB6	5	140531310	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	141799	140531310	40383950	162	11953											
PCDHB12	56124	broad.mit.edu	37	chr5	140589727	140589727	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacagagagagcagagccgaGtacaacatcaccatcaccgt	15	4	10	12	2	2	3	2	0	0	3	2	6	2	3	3	0	4	2	3	0	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140589727G>A	ENST00000239450.2	+	1	1437	c.1248G>A	c.(1246-1248)gaG>gaA	p.E416E	PCDHB12_ENST00000541609.1_Silent_p.E79E	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		416	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGAGCCGAGTACAACATCA	0.522													18	60					0	0	0	0	A	140589727	G	A	140589727	2	1	61	1	0	0	0	0	0	0	0	1	11608	1020	36	4		4	PCDHB12	5	140589727	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	58417	140589727	40325533	163	11954											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711622	140711622	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttccatcaggactcctaCtctgcctacattcccgaaaa	10	11	5	15	1	3	0	1	0	2	0	6	2	6	1	4	1	3	0	4	1	4	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140711622C>A	ENST00000517417.1	+	1	1371	c.1371C>A	c.(1369-1371)taC>taA	p.Y457*	PCDHGA1_ENST00000378105.3_Nonsense_Mutation_p.Y457*	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACTCCTACTCTGCCTACA	0.478													38	103					1.04352e-10	1.24535e-10	1	0	A	140711622	C	A	140711622	4	1	61	1	0	0	0	0	0	1	0	0	11621	576	20	4	1373	4	PCDHGA1	5	140711622	Nonsense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	121895	140711622	40203638	164	11955											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723908	140723908	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcagatcccgctgtgtcTggtaaaaattaacattctgg	10	12	9	10	2	3	1	1	0	2	1	4	1	4	1	1	2	1	3	1	2	4	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140723908T>A	ENST00000253812.6	+	1	308	c.308T>A	c.(307-309)cTg>cAg	p.L103Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCTGTGTCTGGTAAAAATT	0.433													19	49					0	0	0	0	A	140723908	T	A	140723908	3	1	61	1	0	0	0	0	1	0	0	0	11626	1580	55	5	310	5	PCDHGA3	5	140723908	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	12286	140723908	40191352	165	11956											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768224	140768224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcagaaaacgtgtacccggGgaccacggtgctacaggtga	11	7	13	10	3	1	2	1	1	0	1	1	3	1	3	2	4	4	2	2	4	4	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140768224G>T	ENST00000519479.1	+	1	773	c.773G>T	c.(772-774)gGg>gTg	p.G258V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTACCCGGGGACCACGGTG	0.498													44	150					1.30475e-32	1.91099e-32	1	0	T	140768224	G	T	140768224	3	4	61	1	0	0	0	0	1	0	0	0	11636	1232	43	4	775	4	PCDHGB4	5	140768224	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	44316	140768224	40147036	166	11957											
SH3TC2	79628	broad.mit.edu	37	chr5	148427468	148427468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcattctccagtgccCagagccgcctccgagcagct	6	8	10	17	2	2	1	1	0	1	1	5	2	4	1	6	1	4	2	6	1	0	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:148427468C>G	ENST00000515425.1	-	3	337	c.236G>C	c.(235-237)tGg>tCg	p.W79S	SH3TC2_ENST00000512049.1_Missense_Mutation_p.W79S|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	79							binding			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)			CTCCAGTGCCCAGAGCCGCCT	0.527													40	139					0	0	0	0	G	148427468	C	G	148427468	3	3	61	1	0	0	0	0	1	0	0	0	14350	595	21	4	3690	4	SH3TC2	5	148427468	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	7659244	148427468	32487792	167	11958											
GRIA1	2890	broad.mit.edu	37	chr5	153149797	153149797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagccatcagtttttgtgCggaccacagaggaggggatg	10	8	15	8	1	1	2	1	0	0	2	1	5	1	5	2	4	2	1	2	4	0	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:153149797C>T	ENST00000285900.5	+	13	2435	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	GRIA1_ENST00000340592.5_Missense_Mutation_p.R698W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R708W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R708W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R618W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R629W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	698					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.R698W(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGTTTTTGTGCGGACCACAGA	0.463													4	103					0	0	0	0	T	153149797	C	T	153149797	3	4	61	1	0	0	0	0	1	0	0	0	6817	759	27	1	2142	1	GRIA1	5	153149797	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	4722329	153149797	27765463	168	11959											
IL12B	3593	broad.mit.edu	37	chr5	158750296	158750296	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtgaggaccaccatttCtccaggggcatccggatacc	10	7	11	13	1	1	1	0	1	1	0	3	3	2	3	5	5	1	1	5	5	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:158750296C>A	ENST00000231228.2	-	3	585	c.130G>T	c.(130-132)Gaa>Taa	p.E44*		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	44	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCACCATTTCTCCAGGGGCA	0.512													13	35					1.5842e-08	1.81588e-08	1	0	A	158750296	C	A	158750296	4	1	61	1	0	0	0	0	0	1	0	0	7678	922	32	2	876	2	IL12B	5	158750296	Nonsense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	5600499	158750296	22164964	169	11960											
NSD1	64324	broad.mit.edu	37	chr5	176638275	176638275	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctaaggttttggtttcaGgaggctccacacacaattca	10	13	8	10	0	3	0	2	0	1	0	5	1	4	1	1	4	0	3	1	4	2	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:176638275G>T	ENST00000439151.2	+	5	2920	c.2875G>T	c.(2875-2877)Gga>Tga	p.G959*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.G690*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.G856*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.G690*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	959					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTGGTTTCAGGAGGCTCCAC	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			12	39					6.40141e-05	6.87559e-05	1	0	T	176638275	G	T	176638275	4	4	61	1	0	0	0	0	0	1	0	0	10740	1001	35	4	2889	4	NSD1	5	176638275	Nonsense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	17887979	176638275	4276985	170	11961											
NSD1	64324	broad.mit.edu	37	chr5	176707725	176707725	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accccacagtgtgtcctgccGgagggcgctgtcaaaaccag	9	6	12	14	2	1	0	1	0	0	0	2	1	2	1	5	2	2	1	5	2	2	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:176707725G>T	ENST00000439151.2	+	18	5827	c.5782G>T	c.(5782-5784)Gga>Tga	p.G1928*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.G1659*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.G1825*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.G1659*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1928	AWS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTGTCCTGCCGGAGGGCGCTG	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			17	63					3.41278e-10	4.04788e-10	1	0	T	176707725	G	T	176707725	4	4	61	1	0	0	0	0	0	1	0	0	10740	1117	39	3	5848	3	NSD1	5	176707725	Nonsense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	69450	176707725	4207535	171	11962											
HIST1H3B	8358	broad.mit.edu	37	chr6	26032089	26032089	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcaccaggcgctggaacGgcagcttccgaatcagcaac	10	5	11	15	4	1	0	1	0	0	0	3	2	2	1	2	3	4	5	2	3	3	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:26032089G>C	ENST00000244661.2	-	1	199	c.200C>G	c.(199-201)cCg>cGg	p.P67R		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	67					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GCGCTGGAACGGCAGCTTCCG	0.617													12	138					0	0	0	0	C	26032089	G	C	26032089	3	2	61	1	0	0	0	0	1	0	0	0	7206	1116	39	3	214	3	HIST1H3B	6	26032089	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08		26032089	145082978	172	11963											
BTN3A3	10384	broad.mit.edu	37	chr6	26451920	26451920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcggatgtgattctggatCcagacacggcaaacgccatc	11	7	11	12	3	1	2	0	1	1	1	3	4	2	4	2	3	2	1	2	3	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:26451920C>A	ENST00000244519.2	+	11	1279	c.1036C>A	c.(1036-1038)Cca>Aca	p.P346T	BTN3A3_ENST00000361232.3_Missense_Mutation_p.P297T|BTN3A3_ENST00000339789.4_Missense_Mutation_p.P304T	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	346	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GATTCTGGATCCAGACACGGC	0.552													24	43					2.89027e-11	3.46354e-11	1	0	A	26451920	C	A	26451920	3	1	61	1	0	0	0	0	1	0	0	0	1573	855	30	2	1070	2	BTN3A3	6	26451920	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	419831	26451920	144663147	173	11964											
SCAND3	114821	broad.mit.edu	37	chr6	28547174	28547174	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttccatagaaacttccTgcccatatgtgccctgtgag	8	14	7	12	0	1	2	0	1	1	1	3	2	3	2	4	0	3	0	4	0	3	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:28547174T>G	ENST00000452236.2	-	2	1060	c.443A>C	c.(442-444)cAg>cCg	p.Q148P	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	148					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AGAAACTTCCTGCCCATATGT	0.408													20	136					0	0	0	0	G	28547174	T	G	28547174	3	3	61	1	0	0	0	0	1	0	0	0	13962	1580	55	5	3546	5	SCAND3	6	28547174	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	2095254	28547174	142567893	174	11965											
OR14J1	442191	broad.mit.edu	37	chr6	29275361	29275361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattccatgaaggcagcaCtgaggaagatgctgtcaaag	14	8	12	7	0	1	4	1	3	0	1	2	5	2	5	1	2	2	3	1	2	3	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:29275361C>A	ENST00000377160.2	+	1	959	c.895C>A	c.(895-897)Ctg>Atg	p.L299M		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GAAGGCAGCACTGAGGAAGAT	0.398													83	97					4.00405e-42	6.12757e-42	1	0	A	29275361	C	A	29275361	3	1	61	1	0	0	0	0	1	0	0	0	11019	564	20	4	897	4	OR14J1	6	29275361	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	728187	29275361	141839706	175	11966											
OR10C1	442194	broad.mit.edu	37	chr6	29408401	29408401	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagattatcctggcaacagcCctcctcatcctctgcccctt	7	11	5	18	0	2	1	1	0	1	1	5	1	5	1	6	1	3	1	6	1	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:29408401C>A	ENST00000444197.2	+	1	1319	c.609C>A	c.(607-609)gcC>gcA	p.A203A	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGCAACAGCCCTCCTCATCC	0.577													121	238					2.75219e-45	4.23414e-45	1	0	A	29408401	C	A	29408401	2	1	61	1	0	0	0	0	0	0	0	1	10969	610	22	4		4	OR10C1	6	29408401	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	133040	29408401	141706666	176	11967											
TAP2	6891	broad.mit.edu	37	chr6	32805816	32805816	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagacagagcgggagcagCagtgtccccacaaatcccag	12	3	12	14	1	0	2	0	0	0	2	2	3	2	3	4	1	3	2	4	1	1	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:32805816C>G	ENST00000374897.2	-	2	326	c.195G>C	c.(193-195)ctG>ctC	p.L65L	TAP2_ENST00000374899.4_Silent_p.L65L|TAP2_ENST00000452392.2_Silent_p.L65L	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	65					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GCGGGAGCAGCAGTGTCCCCA	0.672													24	98					0	0	0	0	G	32805816	C	G	32805816	2	3	61	1	0	0	0	0	0	0	0	1	15642	697	25	4		4	TAP2	6	32805816	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	3397415	32805816	138309251	177	11968											
PIM1	5292	broad.mit.edu	37	chr6	37138806	37138806	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttccgactggggagagcTggtgagtgccctgcaggagc	7	8	17	9	1	0	2	0	1	0	1	1	6	1	3	2	4	4	2	2	4	0	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:37138806T>C	ENST00000373509.5	+	3	612	c.240_splice	c.e3+1	p.L80_splice		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	171					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TGGGGAGAGCTGGTGAGTGCC	0.677			T	BCL6	NHL								4	131					0	0	0	0	C	37138806	T	C	37138806	5	2	61	1	0	0	0	0	0	0	1	0	11999	1594	55	5	249	5	PIM1	6	37138806	Splice_Site	SNP	T	TCGA-CN-4727-01A-01D-1434-08	4332990	37138806	133976261	178	11969											
MEP1A	4224	broad.mit.edu	37	chr6	46800982	46800982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaggggtctggacagtccGgaatttctcccaagtccttg	8	10	11	12	1	2	0	0	0	2	0	5	2	4	2	3	4	0	0	3	4	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:46800982G>A	ENST00000230588.4	+	11	1325	c.1316G>A	c.(1315-1317)cGg>cAg	p.R439Q		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	439	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.R439Q(1)|p.R439L(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TGGACAGTCCGGAATTTCTCC	0.512													32	103					0	0	0	0	A	46800982	G	A	46800982	3	1	61	1	0	0	0	0	1	0	0	0	9544	1116	39	1	1358	1	MEP1A	6	46800982	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	9662176	46800982	124314085	179	11970											
PKHD1	5314	broad.mit.edu	37	chr6	51732776	51732776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagggtttccatagaagcaaGaatgtgacttctgtttttcc	11	14	9	7	0	1	3	0	1	1	2	3	3	3	3	2	1	1	3	2	1	5	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:51732776G>C	ENST00000371117.3	-	48	7893	c.7618C>G	c.(7618-7620)Ctt>Gtt	p.L2540V	PKHD1_ENST00000340994.4_Missense_Mutation_p.L2540V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2540					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATAGAAGCAAGAATGTGACTT	0.438													12	78					0	0	0	0	C	51732776	G	C	51732776	3	2	61	1	0	0	0	0	1	0	0	0	12043	942	33	2	4725	2	PKHD1	6	51732776	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	4931794	51732776	119382291	180	11971											
DST	667	broad.mit.edu	37	chr6	56496758	56496758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgaatctgtctaatcagccGatcttcacagttctctaacc	10	13	5	13	2	6	0	2	0	4	0	8	2	6	0	2	0	2	1	2	0	3	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:56496758G>A	ENST00000370754.5	-	28	3786	c.3787C>T	c.(3787-3789)Cgg>Tgg	p.R1263W	DST_ENST00000370788.2_Missense_Mutation_p.R1085W|DST_ENST00000312431.6_Missense_Mutation_p.R1085W|DST_ENST00000244364.6_Missense_Mutation_p.R759W|DST_ENST00000370769.4_Missense_Mutation_p.R1085W|DST_ENST00000370765.6_Missense_Mutation_p.R759W|DST_ENST00000446842.2_Missense_Mutation_p.R759W|DST_ENST00000361203.3_Missense_Mutation_p.R1085W|DST_ENST00000421834.2_Missense_Mutation_p.R1085W|DST_ENST00000518935.1_Missense_Mutation_p.R759W			Q03001	DYST_HUMAN	dystonin	1085					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTAATCAGCCGATCTTCACAG	0.388													35	103					0	0	0	0	A	56496758	G	A	56496758	3	1	61	1	0	0	0	0	1	0	0	0	4819	1057	37	1	18160	1	DST	6	56496758	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	4763982	56496758	114618309	181	11972											
BAI3	577	broad.mit.edu	37	chr6	69646437	69646437	+	Nonsense_Mutation	SNP	C	C	T																															ctggtgtggaagagtggtccCagtggagcacatgttcggtt																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:69646437C>T	ENST00000370598.1	+	5	1716	c.895C>T	c.(895-897)Cag>Tag	p.Q299*		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	299	TSP type-1 1.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAGTGGTCCCAGTGGAGCAC	0.463													19	26					0	0	0	0	T	69646437	C	T	69646437	4	4	61	1	0	0	0	0	0	1	0	0	1304	595	21	4	905	4	BAI3	6	69646437	Nonsense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	13149679	69646437	101468630	182	11973	102	2									
BAI3	577	broad.mit.edu	37	chr6	69646438	69646438	+	Missense_Mutation	SNP	A	A	C																															tggtgtggaagagtggtcccAgtggagcacatgttcggtta																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:69646438A>C	ENST00000370598.1	+	5	1717	c.896A>C	c.(895-897)cAg>cCg	p.Q299P		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	299	TSP type-1 1.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGTGGTCCCAGTGGAGCACA	0.458													19	26					0	0	0	0	C	69646438	A	C	69646438	3	2	61	1	0	0	0	0	1	0	0	0	1304	188	7	5	906	5	BAI3	6	69646438	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	1	69646438	101468629	183	11974	102	2									
LCA5	167691	broad.mit.edu	37	chr6	80201313	80201313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctaaactcaccaaagtaaGatgtcctggttcttcccatt	11	13	6	11	0	2	1	1	0	1	1	4	1	4	1	3	1	2	3	3	1	4	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:80201313G>A	ENST00000392959.1	-	7	1701	c.1090C>T	c.(1090-1092)Ctt>Ttt	p.L364F	LCA5_ENST00000369846.4_Missense_Mutation_p.L364F|LCA5_ENST00000467898.2_Missense_Mutation_p.L364F	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	364					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ACCAAAGTAAGATGTCCTGGT	0.343													40	197					0	0	0	0	A	80201313	G	A	80201313	3	1	61	1	0	0	0	0	1	0	0	0	8709	942	33	2	1015	2	LCA5	6	80201313	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	10554875	80201313	90913754	184	11975											
MDN1	23195	broad.mit.edu	37	chr6	90472244	90472244	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagcttatggtccaccggtTtataactgaaacagacacag	14	10	8	9	1	0	2	0	1	0	1	1	2	1	2	2	2	3	2	2	2	5	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:90472244T>G	ENST00000369393.3	-	16	2265	c.2150A>C	c.(2149-2151)aAa>aCa	p.K717T	MDN1_ENST00000428876.1_Missense_Mutation_p.K717T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	717					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTCCACCGGTTTATAACTGAA	0.408													17	72					0	0	0	0	G	90472244	T	G	90472244	3	3	61	1	0	0	0	0	1	0	0	0	9484	1841	64	5	14988	5	MDN1	6	90472244	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	10270931	90472244	80642823	185	11976											
FHL5	9457	broad.mit.edu	37	chr6	97051592	97051592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtgttacatgttatgatCgtgtattttctaactattgc	9	19	7	6	1	1	1	0	1	1	0	2	1	1	1	0	0	3	3	0	0	5	8	rs138154376		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:97051592C>A	ENST00000326771.2	+	3	483	c.103C>A	c.(103-105)Cgt>Agt	p.R35S	FHL5_ENST00000541107.1_Missense_Mutation_p.R35S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	35			R -> H (in dbSNP:rs35157931).			nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		ATGTTATGATCGTGTATTTTC	0.368													47	100					3.05275e-18	4.0986e-18	1	0	A	97051592	C	A	97051592	3	1	61	1	0	0	0	0	1	0	0	0	5926	884	31	3	105	3	FHL5	6	97051592	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	6579348	97051592	74063475	186	11977											
FHL5	9457	broad.mit.edu	37	chr6	97053872	97053872	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagggacaaagcctttgatCtccaaagagagtggcaatta	15	9	10	7	0	1	2	0	1	1	1	2	4	1	3	2	2	1	1	2	2	5	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:97053872C>A	ENST00000326771.2	+	5	809	c.429C>A	c.(427-429)atC>atA	p.I143I	FHL5_ENST00000541107.1_Silent_p.I143I	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	143	LIM zinc-binding 2.					nucleus	zinc ion binding	p.I143I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGCCTTTGATCTCCAAAGAGA	0.413													34	72					3.11337e-16	4.03071e-16	1	0	A	97053872	C	A	97053872	2	1	61	1	0	0	0	0	0	0	0	1	5926	903	32	2		2	FHL5	6	97053872	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	2280	97053872	74061195	187	11978											
KLHL32	114792	broad.mit.edu	37	chr6	97562024	97562024	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggagtgagctggctccCatgcctgtgggaaggagcca	9	7	15	10	0	0	1	0	1	0	0	1	4	1	4	3	4	4	2	3	4	2	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:97562024C>A	ENST00000369261.4	+	7	1356	c.993C>A	c.(991-993)ccC>ccA	p.P331P	KLHL32_ENST00000536676.1_Silent_p.P295P|KLHL32_ENST00000539200.1_Silent_p.P262P|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	331				P -> S (in Ref. 1; BAB70899).						breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AGCTGGCTCCCATGCCTGTGG	0.567													23	89					1.66031e-10	1.97331e-10	1	0	A	97562024	C	A	97562024	2	1	61	1	0	0	0	0	0	0	0	1	8438	581	21	4		4	KLHL32	6	97562024	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	508152	97562024	73553043	188	11979											
AIM1	202	broad.mit.edu	37	chr6	106987308	106987308	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgaagaacctggatttcaGggtgttcctttcatcctgga	9	14	10	8	0	2	2	2	1	0	1	4	4	4	4	3	3	1	1	3	3	3	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:106987308G>A	ENST00000369066.3	+	7	4012	c.3525G>A	c.(3523-3525)caG>caA	p.Q1175Q		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1175	Beta/gamma crystallin 'Greek key' 4.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CTGGATTTCAGGGTGTTCCTT	0.453													41	188					0	0	0	0	A	106987308	G	A	106987308	2	1	61	1	0	0	0	0	0	0	0	1	430	991	35	4		4	AIM1	6	106987308	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	9425284	106987308	64127759	189	11980											
LAMA4	3910	broad.mit.edu	37	chr6	112469437	112469437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgtgaccagttggttaGattgttggccatgggggcag	7	13	15	6	0	1	2	0	1	1	1	1	2	1	2	2	4	0	4	2	4	1	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:112469437G>T	ENST00000230538.7	-	18	2672	c.2275C>A	c.(2275-2277)Cta>Ata	p.L759I	LAMA4_ENST00000389463.4_Missense_Mutation_p.L752I|LAMA4_ENST00000522006.1_Missense_Mutation_p.L752I|LAMA4_ENST00000424408.2_Missense_Mutation_p.L752I	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	759	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTGGTTAGATTGTTGGCC	0.517													27	108					4.7796e-09	5.54434e-09	1	0	T	112469437	G	T	112469437	3	4	61	1	0	0	0	0	1	0	0	0	8661	933	33	2	3284	2	LAMA4	6	112469437	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	5482129	112469437	58645630	190	11981											
EYA4	2070	broad.mit.edu	37	chr6	133769305	133769305	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagttgcaacacccccTcttctgcaacaagtatgaga	11	10	8	12	0	2	2	0	2	2	1	2	3	2	2	2	0	5	5	2	0	4	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:133769305T>A	ENST00000367895.5	+	5	729	c.265T>A	c.(265-267)Tct>Act	p.S89T	EYA4_ENST00000525849.1_Intron|EYA4_ENST00000431403.2_Missense_Mutation_p.S89T|EYA4_ENST00000355167.3_Missense_Mutation_p.S89T|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000531901.1_Missense_Mutation_p.S89T|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000452339.2_Intron	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	89					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAACACCCCCTCTTCTGCAAC	0.453													21	48					0	0	0	0	A	133769305	T	A	133769305	3	1	61	1	0	0	0	0	1	0	0	0	5369	1551	54	5	279	5	EYA4	6	133769305	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	21299868	133769305	37345762	191	11982											
TBPL1	9519	broad.mit.edu	37	chr6	134305618	134305618	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacaatagacctcatgccagGtaagtctttgaagcaattta	15	11	7	8	0	2	2	1	1	1	1	2	2	2	2	2	1	3	2	2	1	7	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:134305618G>A	ENST00000237264.4	+	5	661		c.e5+1		TBPL1_ENST00000367871.1_Splice_Site|TBPL1_ENST00000477527.1_Splice_Site	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1						regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		CTCATGCCAGGTAAGTCTTTG	0.318													19	58					0	0	0	0	A	134305618	G	A	134305618	5	1	61	1	0	0	0	0	0	0	1	0	15739	1275	44	4	401	4	TBPL1	6	134305618	Splice_Site	SNP	G	TCGA-CN-4727-01A-01D-1434-08	536313	134305618	36809449	192	11983											
AHI1	54806	broad.mit.edu	37	chr6	135788738	135788738	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcatcacttgtagtttctTtcatatagtgaagattgctt	10	18	6	7	0	4	2	3	1	1	1	4	2	4	2	0	0	1	3	0	0	4	8			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:135788738T>C	ENST00000367800.4	-	4	386	c.170A>G	c.(169-171)aAa>aGa	p.K57R	AHI1_ENST00000457866.2_Missense_Mutation_p.K57R|AHI1_ENST00000327035.6_Missense_Mutation_p.K57R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	57						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGTAGTTTCTTTCATATAGTG	0.343													11	39					0	0	0	0	C	135788738	T	C	135788738	3	2	61	1	0	0	0	0	1	0	0	0	413	1841	64	5	3573	5	AHI1	6	135788738	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	1483120	135788738	35326329	193	11984											
BCLAF1	9774	broad.mit.edu	37	chr6	136596736	136596736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtgcttttgctggcctGtggcaacttaatgtggtcaa	8	14	12	7	0	1	1	1	1	0	0	1	1	1	1	1	3	3	3	1	3	4	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:136596736G>T	ENST00000531224.1	-	6	2038	c.1786C>A	c.(1786-1788)Cag>Aag	p.Q596K	BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q594K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q594K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q596K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q594K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.Q423K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	596					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGCTGGCCTGTGGCAACTTA	0.398													19	289					7.41877e-09	8.55445e-09	1	0	T	136596736	G	T	136596736	3	4	61	1	0	0	0	0	1	0	0	0	1387	1386	48	4	1008	4	BCLAF1	6	136596736	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	807998	136596736	34518331	194	11985											
SHPRH	257218	broad.mit.edu	37	chr6	146244822	146244822	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgttgcttgtagttgcTggttatttcatttcgcactc	5	20	9	7	1	1	0	1	0	0	0	3	0	1	0	0	1	2	8	0	1	2	8			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:146244822T>A	ENST00000367503.3	-	18	3927	c.3529A>T	c.(3529-3531)Agc>Tgc	p.S1177C	SHPRH_ENST00000367505.2_Missense_Mutation_p.S1168C|SHPRH_ENST00000275233.7_Missense_Mutation_p.S1168C|SHPRH_ENST00000438092.2_Missense_Mutation_p.S1177C	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1168					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTGTAGTTGCTGGTTATTTCA	0.358													65	114					0	0	0	0	A	146244822	T	A	146244822	3	1	61	1	0	0	0	0	1	0	0	0	14379	1580	55	5	1618	5	SHPRH	6	146244822	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	9648086	146244822	24870245	195	11986											
RAB32	10981	broad.mit.edu	37	chr6	146865142	146865142	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcatcatcaagcgctaCgtccaccagctcttctccca	10	8	5	18	2	4	0	2	0	2	0	6	0	5	0	4	0	4	3	4	0	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:146865142C>G	ENST00000367495.3	+	1	314	c.135C>G	c.(133-135)taC>taG	p.Y45*		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	45					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		TCAAGCGCTACGTCCACCAGC	0.672													17	75					0	0	0	0	G	146865142	C	G	146865142	4	3	61	1	0	0	0	0	0	1	0	0	13003	547	19	3	137	3	RAB32	6	146865142	Nonsense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	620320	146865142	24249925	196	11987											
SASH1	23328	broad.mit.edu	37	chr6	148864928	148864928	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgcctttaatgaaatcAggggatgcactgaagcaggg	13	9	12	7	0	1	2	1	2	0	0	1	3	1	3	1	3	3	2	1	3	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:148864928A>G	ENST00000367467.3	+	18	2797	c.2322A>G	c.(2320-2322)tcA>tcG	p.S774S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	774							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TAATGAAATCAGGGGATGCAC	0.542													4	196					0	0	0	0	G	148864928	A	G	148864928	2	3	61	1	0	0	0	0	0	0	0	1	13934	175	7	5		5	SASH1	6	148864928	Silent	SNP	A	TCGA-CN-4727-01A-01D-1434-08	1999786	148864928	22250139	197	11988											
SYNE1	23345	broad.mit.edu	37	chr6	152640010	152640010	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcttaccttttggtcagtTttagcttgaactacattatc	8	19	5	9	0	2	1	1	1	1	0	3	1	2	1	1	1	4	2	1	1	5	9			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:152640010T>A	ENST00000367255.5	-	85	16978	c.16377A>T	c.(16375-16377)aaA>aaT	p.K5459N	SYNE1_ENST00000448038.1_Missense_Mutation_p.K5388N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K5132N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K5388N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K5459N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5459					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGGTCAGTTTTAGCTTGAA	0.363										HNSCC(10;0.0054)			10	50					0	0	0	0	A	152640010	T	A	152640010	3	1	61	1	0	0	0	0	1	0	0	0	15536	1838	64	5	10337	5	SYNE1	6	152640010	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	3775082	152640010	18475057	198	11989											
SYNE1	23345	broad.mit.edu	37	chr6	152702445	152702445	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtttcacttcgggagccagcGactccactctgctgagacgg	7	9	12	13	3	2	1	1	1	1	1	4	4	3	2	2	2	3	2	2	2	0	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:152702445G>C	ENST00000367255.5	-	56	9306	c.8705C>G	c.(8704-8706)tCg>tGg	p.S2902W	SYNE1_ENST00000448038.1_Missense_Mutation_p.S2909W|SYNE1_ENST00000341594.5_Missense_Mutation_p.S2941W|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2909W|SYNE1_ENST00000265368.4_Missense_Mutation_p.S2902W|SYNE1-AS1_ENST00000412161.1_RNA	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2902					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGAGCCAGCGACTCCACTCT	0.542										HNSCC(10;0.0054)			40	245					0	0	0	0	C	152702445	G	C	152702445	3	2	61	1	0	0	0	0	1	0	0	0	15536	1059	37	3	18125	3	SYNE1	6	152702445	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	62435	152702445	18412622	199	11990											
TIAM2	26230	broad.mit.edu	37	chr6	155578189	155578189	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctagagcgagaattcagtgtCcagagtttaacatctgttgt	11	13	10	7	1	2	3	1	0	1	3	3	4	3	3	1	0	2	2	1	0	3	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:155578189C>G	ENST00000461783.3	+	29	6313	c.5040C>G	c.(5038-5040)gtC>gtG	p.V1680V	TIAM2_ENST00000360366.4_Silent_p.V1704V|TIAM2_ENST00000318981.5_Silent_p.V1680V|TIAM2_ENST00000456877.2_Silent_p.V992V|TIAM2_ENST00000529824.2_Silent_p.V1709V|TIAM2_ENST00000367174.2_Silent_p.V1056V|TIAM2_ENST00000275246.7_Silent_p.V605V|TIAM2_ENST00000456144.1_Silent_p.V1709V|TIAM2_ENST00000528391.2_Silent_p.V1024V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1680					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AATTCAGTGTCCAGAGTTTAA	0.428													15	75					0	0	0	0	G	155578189	C	G	155578189	2	3	61	1	0	0	0	0	0	0	0	1	15985	842	30	2		2	TIAM2	6	155578189	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	2875744	155578189	15536878	200	11991											
NOX3	50508	broad.mit.edu	37	chr6	155743931	155743931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgcggcaacgcacacaCacactgggtagtgaaataca	13	5	9	14	3	0	1	0	1	0	0	1	1	1	1	2	2	2	3	2	2	4	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:155743931C>T	ENST00000159060.2	-	10	1307	c.1205G>A	c.(1204-1206)tGt>tAt	p.C402Y		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	402							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AACGCACACACACACTGGGTA	0.532													33	196					0	0	0	0	T	155743931	C	T	155743931	3	4	61	1	0	0	0	0	1	0	0	0	10627	478	17	4	517	4	NOX3	6	155743931	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	165742	155743931	15371136	201	11992											
IGF2R	3482	broad.mit.edu	37	chr6	160511018	160511018	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagatccaactttcctccAtcacaagctccagaaacccg	13	8	5	15	1	1	2	1	1	0	2	5	3	5	2	5	0	3	1	5	0	3	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:160511018A>G	ENST00000356956.1	+	44	6686	c.6538A>G	c.(6538-6540)Atc>Gtc	p.I2180V		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2180					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ACTTTCCTCCATCACAAGCTC	0.512													61	92					0	0	0	0	G	160511018	A	G	160511018	3	3	61	1	0	0	0	0	1	0	0	0	7629	217	8	5	6712	5	IGF2R	6	160511018	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	4767087	160511018	10604049	202	11993											
PARK2	5071	broad.mit.edu	37	chr6	162683695	162683695	+	Frame_Shift_Del	DEL	C	C	-																															ctcccgctcacagcctcccgCcgcgtttctggggtcgtcgc																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:162683695delC	ENST00000366898.1	-	3	376	c.274delG	c.(274-276)cgfs	p.A92fs	PARK2_ENST00000366892.1_Frame_Shift_Del_p.A92fs|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Frame_Shift_Del_p.A92fs|PARK2_ENST00000366894.1_Intron	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	92			A -> V (in PARK2).		aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAGCCTCCCGCCGCGTTTCTG	0.582													29	139	---	---	---	---					-	162683695	C	-	162683695	7	5	61	1	0	1	0	1	0	0	0	0	11520	739	26	0	1163	0	PARK2	6	162683695	Frame_Shift_Del	DEL	C	TCGA-CN-4727-01A-01D-1434-08	2172677	162683695	8431372	203	11994											
PDE10A	10846	broad.mit.edu	37	chr6	165749685	165749685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcagggaatggccacggCattgtagaacccaagctgcc	12	6	12	11	1	0	1	0	0	0	1	0	2	0	2	3	3	4	4	3	3	5	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:165749685C>G	ENST00000366882.1	-	22	2318	c.2164G>C	c.(2164-2166)Gcc>Ccc	p.A722P	PDE10A_ENST00000354448.4_Missense_Mutation_p.A722P|PDE10A_ENST00000539869.2_Missense_Mutation_p.A732P			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	722					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ATGGCCACGGCATTGTAGAAC	0.453													9	57					0	0	0	0	G	165749685	C	G	165749685	3	3	61	1	0	0	0	0	1	0	0	0	11701	710	25	4	183	4	PDE10A	6	165749685	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	3065990	165749685	5365382	204	11995											
TCP10L2	401285	broad.mit.edu	37	chr6	167585706	167585706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacccgtgcccgggagctgGggctgccatggagaagacac	8	4	17	12	2	0	2	0	0	0	2	0	5	0	4	3	5	3	2	3	5	1	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:167585706G>T	ENST00000366832.2	+	2	205	c.74G>T	c.(73-75)gGg>gTg	p.G25V		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	25										endometrium(1)|kidney(2)|lung(3)	6						CCGGGAGCTGGGGCTGCCATG	0.652													13	24					1.02788e-11	1.24984e-11	1	0	T	167585706	G	T	167585706	3	4	61	1	0	0	0	0	1	0	0	0	15806	1232	43	4	76	4	TCP10L2	6	167585706	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1836021	167585706	3529361	205	11996											
C6orf120	387263	broad.mit.edu	37	chr6	170102735	170102735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacagctacctgcggctgaaCcacgagggcaagatagtcct	11	7	11	12	2	0	2	0	1	0	1	1	3	1	2	3	2	5	3	3	2	5	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:170102735C>A	ENST00000332290.2	+	1	479	c.180C>A	c.(178-180)aaC>aaA	p.N60K	C6orf120_ENST00000439249.1_Missense_Mutation_p.N79K	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	60						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		TGCGGCTGAACCACGAGGGCA	0.647													36	60					8.73648e-17	1.13869e-16	1	0	A	170102735	C	A	170102735	3	1	61	1	0	0	0	0	1	0	0	0	2345	506	18	4	182	4	C6orf120	6	170102735	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	2517029	170102735	1012332	206	11997											
EIF2AK1	27102	broad.mit.edu	37	chr7	6066485	6066485	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttttacggagggattcCggcaactgaccagttcttaa	10	11	9	11	2	1	1	0	1	1	0	2	3	2	3	3	3	2	2	3	3	3	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:6066485C>A	ENST00000199389.6	-	14	1784	c.1638G>T	c.(1636-1638)ccG>ccT	p.P546P	EIF2AK1_ENST00000536084.1_Silent_p.P422P	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	546	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GGAGGGATTCCGGCAACTGAC	0.498													66	122					2.19297e-23	3.07227e-23	1	0	A	6066485	C	A	6066485	2	1	61	1	0	0	0	0	0	0	0	1	5032	639	23	3		3	EIF2AK1	7	6066485	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08		6066485	153072178	207	11998											
COL28A1	340267	broad.mit.edu	37	chr7	7400084	7400084	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggtggcctcagatgaggTagtggcaggcagatcatcag	9	8	17	7	0	3	3	3	1	0	2	3	3	3	3	1	6	0	3	1	6	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:7400084T>G	ENST00000399429.3	-	34	3282	c.3142A>C	c.(3142-3144)Acc>Ccc	p.T1048P		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1048					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCAGATGAGGTAGTGGCAGGC	0.517													50	79					0	0	0	0	G	7400084	T	G	7400084	3	3	61	1	0	0	0	0	1	0	0	0	3716	1638	57	5	243	5	COL28A1	7	7400084	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	1333599	7400084	151738579	208	11999											
HDAC9	9734	broad.mit.edu	37	chr7	18975437	18975437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtattatggtaggttttGgtcatttgacgaagcaattg	9	18	11	3	1	1	1	1	1	0	0	1	2	1	1	0	3	1	4	0	3	5	8	rs78483718		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:18975437G>T	ENST00000406451.3	+	23	2950	c.2800G>T	c.(2800-2802)Ggt>Tgt	p.G934C	HDAC9_ENST00000401921.1_Missense_Mutation_p.G893C|HDAC9_ENST00000441542.2_Missense_Mutation_p.G937C|HDAC9_ENST00000432645.2_Missense_Mutation_p.G934C	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	934	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGTAGGTTTTGGTCATTTGAC	0.383													86	155					3.01496e-42	4.62613e-42	1	0	T	18975437	G	T	18975437	3	4	61	1	0	0	0	0	1	0	0	0	7064	1348	47	4	3008	4	HDAC9	7	18975437	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	11575353	18975437	140163226	209	12000											
MACC1	346389	broad.mit.edu	37	chr7	20198323	20198323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcactgccttcagggttaccCcatagttgctaaagttcaat	10	12	8	11	0	2	0	2	0	0	0	2	0	2	0	3	1	3	5	3	1	5	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:20198323C>A	ENST00000400331.5	-	5	1969	c.1661G>T	c.(1660-1662)gGg>gTg	p.G554V	MACC1_ENST00000332878.4_Missense_Mutation_p.G554V|MACC1_ENST00000589011.1_Missense_Mutation_p.G554V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	554	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CAGGGTTACCCCATAGTTGCT	0.378													38	248					6.33695e-27	9.03054e-27	1	0	A	20198323	C	A	20198323	3	1	61	1	0	0	0	0	1	0	0	0	9208	623	22	4	909	4	MACC1	7	20198323	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1222886	20198323	138940340	210	12001											
AMPH	273	broad.mit.edu	37	chr7	38431464	38431464	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtcctggataggcttcTgctccgtagccagctccggt	5	10	14	12	2	1	0	0	0	1	0	4	2	4	1	4	4	3	4	4	4	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:38431464T>A	ENST00000356264.2	-	19	1978	c.1763A>T	c.(1762-1764)cAg>cTg	p.Q588L	AMPH_ENST00000428293.2_Missense_Mutation_p.Q546L|AMPH_ENST00000325590.5_Missense_Mutation_p.Q546L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	588					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GATAGGCTTCTGCTCCGTAGC	0.622													24	30					0	0	0	0	A	38431464	T	A	38431464	3	1	61	1	0	0	0	0	1	0	0	0	588	1580	55	5	336	5	AMPH	7	38431464	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	18233141	38431464	120707199	211	12002											
AMPH	273	broad.mit.edu	37	chr7	38530704	38530704	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgttagcaaggacccatcCacgagtttttgatggaagtc	11	11	11	8	1	0	1	0	1	0	0	2	4	1	3	2	2	1	3	2	2	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:38530704C>G	ENST00000356264.2	-	5	557	c.342G>C	c.(340-342)gtG>gtC	p.V114V	AMPH_ENST00000428293.2_Silent_p.V114V|AMPH_ENST00000325590.5_Silent_p.V114V	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	114	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGGACCCATCCACGAGTTTTT	0.403													140	211					0	0	0	0	G	38530704	C	G	38530704	2	3	61	1	0	0	0	0	0	0	0	1	588	581	21	4		4	AMPH	7	38530704	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	99240	38530704	120607959	212	12003											
GCK	2645	broad.mit.edu	37	chr7	44184836	44184836	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaggtgatctcgcagcTgggcgtcagcctgcgcacgc	7	7	15	12	4	2	2	1	2	1	0	3	3	2	2	1	2	3	3	1	2	1	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44184836T>A	ENST00000403799.3	-	10	1766	c.1297A>T	c.(1297-1299)Agc>Tgc	p.S433C	GCK_ENST00000395796.3_Missense_Mutation_p.S432C|GCK_ENST00000345378.2_Missense_Mutation_p.S434C|GCK_ENST00000437084.1_Missense_Mutation_p.S416C	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	433					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						ATCTCGCAGCTGGGCGTCAGC	0.657													15	25					0	0	0	0	A	44184836	T	A	44184836	3	1	61	1	0	0	0	0	1	0	0	0	6342	1580	55	5	104	5	GCK	7	44184836	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	5654132	44184836	114953827	213	12004											
CAMK2B	816	broad.mit.edu	37	chr7	44259804	44259804	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtactgcgtgagccggaTgtaagcgatgcaggcggcat	10	8	15	8	4	0	1	0	1	0	0	0	3	0	2	1	3	5	4	1	3	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44259804T>A	ENST00000395749.2	-	23	1934	c.1858A>T	c.(1858-1860)Atc>Ttc	p.I620F	CAMK2B_ENST00000346990.4_Missense_Mutation_p.I403F|CAMK2B_ENST00000358707.3_Missense_Mutation_p.I457F|CAMK2B_ENST00000440254.2_Missense_Mutation_p.I496F|CAMK2B_ENST00000457475.1_Missense_Mutation_p.I472F|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000258682.6_Missense_Mutation_p.I471F|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000395747.2_Missense_Mutation_p.I472F|CAMK2B_ENST00000350811.3_Missense_Mutation_p.I496F|CAMK2B_ENST00000347193.4_Missense_Mutation_p.I446F|CAMK2B_ENST00000353625.4_Missense_Mutation_p.I433F	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	620					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GTGAGCCGGATGTAAGCGATG	0.642													9	40					0	0	0	0	A	44259804	T	A	44259804	3	1	61	1	0	0	0	0	1	0	0	0	2625	1464	51	5	146	5	CAMK2B	7	44259804	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	74968	44259804	114878859	214	12005											
H2AFV	94239	broad.mit.edu	37	chr7	44880522	44880522	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgaggtactccagaatCgcagcactgtacacggcagc	11	6	12	12	2	0	2	0	1	0	1	2	2	1	2	1	2	4	6	1	2	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44880522C>A	ENST00000222690.6	-	3	276	c.171G>T	c.(169-171)gcG>gcT	p.A57A	H2AFV_ENST00000381124.5_Silent_p.A57A|H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000350771.3_Silent_p.A31A|H2AFV_ENST00000349299.3_Intron|H2AFV_ENST00000308153.4_Silent_p.A57A|H2AFV_ENST00000521529.1_Silent_p.A31A|H2AFV_ENST00000446531.1_Silent_p.A57A	NM_138635.3	NP_619541.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	57					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						ACTCCAGAATCGCAGCACTGT	0.512													9	47					7.48243e-07	8.2663e-07	1	0	A	44880522	C	A	44880522	2	1	61	1	0	0	0	0	0	0	0	1	6977	871	31	3		3	H2AFV	7	44880522	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	620718	44880522	114258141	215	12006											
PURB	5814	broad.mit.edu	37	chr7	44924479	44924479	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcccggggcccgcgccgaAgccgccaccgccgcggttga	4	2	16	19	9	0	1	0	1	0	0	0	2	0	1	7	4	1	1	7	4	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44924479A>T	ENST00000395699.2	-	1	481	c.469T>A	c.(469-471)Ttc>Atc	p.F157I		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	157	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						cccgcgccgAAGCCGCCACCG	0.701													3	6					0	0	0	0	T	44924479	A	T	44924479	3	4	61	1	0	0	0	0	1	0	0	0	12910	72	3	5	473	5	PURB	7	44924479	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	43957	44924479	114214184	216	12007											
PKD1L1	168507	broad.mit.edu	37	chr7	47870817	47870817	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaactctacagctcacctGtaggctagaaatcctgtccc	13	9	6	13	0	2	1	1	0	1	1	4	1	4	1	3	1	3	3	3	1	6	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:47870817G>C	ENST00000289672.2	-	42	6521	c.6471C>G	c.(6469-6471)taC>taG	p.Y2157*		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2157					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGCTCACCTGTAGGCTAGAA	0.507													58	84					0	0	0	0	C	47870817	G	C	47870817	4	2	61	1	0	0	0	0	0	1	0	0	12036	1372	48	4	2142	4	PKD1L1	7	47870817	Nonsense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2946338	47870817	111267846	217	12008											
ABCA13	154664	broad.mit.edu	37	chr7	48356867	48356867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tactatacacaccaaacactCcagaaattaacaaggtcatt	18	9	3	11	0	1	1	1	0	0	1	2	1	2	1	2	1	4	0	2	1	7	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:48356867C>T	ENST00000435803.1	+	27	9997	c.9973C>T	c.(9973-9975)Cca>Tca	p.P3325S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3325					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						ACCAAACACTCCAGAAATTAA	0.333													8	50					0	0	0	0	T	48356867	C	T	48356867	3	4	61	1	0	0	0	0	1	0	0	0	31	855	30	2	9908	2	ABCA13	7	48356867	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	486050	48356867	110781796	218	12009											
HIP1	3092	broad.mit.edu	37	chr7	75174442	75174442	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgagataagtccttctgtCcatcgagagttcttggcata	9	13	10	9	1	2	2	0	1	2	2	5	4	4	2	2	1	0	3	2	1	2	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:75174442C>T	ENST00000336926.6	-	26	2630	c.2604G>A	c.(2602-2604)tgG>tgA	p.W868*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.W817*	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	868	I/LWEQ.|Important for actin binding (By similarity).				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTCCTTCTGTCCATCGAGAGT	0.463			T	PDGFRB	CMML								72	215					0	0	0	0	T	75174442	C	T	75174442	4	4	61	1	0	0	0	0	0	1	0	0	7164	856	30	2	533	2	HIP1	7	75174442	Nonsense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	26817575	75174442	83964221	219	12010											
PTPN12	5782	broad.mit.edu	37	chr7	77256227	77256227	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctcaacagaaactatagtAaatcaacagaacttccaggg	18	7	6	10	0	2	2	2	0	0	2	3	2	3	2	2	1	4	1	2	1	8	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:77256227A>C	ENST00000248594.6	+	13	1503	c.1231A>C	c.(1231-1233)Aaa>Caa	p.K411Q	PTPN12_ENST00000415482.2_Missense_Mutation_p.K292Q|PTPN12_ENST00000435495.2_Missense_Mutation_p.K281Q	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	411	Interaction with TGFB1I1 (By similarity).					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AAACTATAGTAAATCAACAGA	0.368													14	82					0	0	0	0	C	77256227	A	C	77256227	3	2	61	1	0	0	0	0	1	0	0	0	12861	363	13	5	1281	5	PTPN12	7	77256227	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	2081785	77256227	81882436	220	12011											
CACNA2D1	781	broad.mit.edu	37	chr7	81620521	81620521	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaatctgtgccattgacAggtgtccatgtgtatgtcct	7	15	10	9	0	1	1	0	1	1	0	3	1	3	1	3	1	1	2	3	1	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:81620521A>T	ENST00000356860.3	-	21	2114	c.1776T>A	c.(1774-1776)ccT>ccA	p.P592P	CACNA2D1_ENST00000356253.5_Silent_p.P611P	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	611						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGCCATTGACAGGTGTCCATG	0.303													16	105					0	0	0	0	T	81620521	A	T	81620521	2	4	61	1	0	0	0	0	0	0	0	1	2573	175	7	5		5	CACNA2D1	7	81620521	Silent	SNP	A	TCGA-CN-4727-01A-01D-1434-08	4364294	81620521	77518142	221	12012											
CALCR	799	broad.mit.edu	37	chr7	93106955	93106955	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcccagcacagccatccAtcccaggtgcgattgcaata	11	8	7	15	1	1	0	1	0	0	0	4	1	4	0	4	1	4	2	4	1	2	2	rs139631014	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:93106955A>G	ENST00000359558.2	-	6	584	c.285T>C	c.(283-285)gaT>gaC	p.D95D	CALCR_ENST00000394441.1_Silent_p.D77D|CALCR_ENST00000360249.4_Silent_p.D77D|CALCR_ENST00000426151.1_Silent_p.D77D|CALCR_ENST00000421592.1_Silent_p.D77D	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	77					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ACAGCCATCCATCCCAGGTGC	0.428													29	63					0	0	0	0	G	93106955	A	G	93106955	2	3	61	1	0	0	0	0	0	0	0	1	2604	214	8	5		5	CALCR	7	93106955	Silent	SNP	A	TCGA-CN-4727-01A-01D-1434-08	11486434	93106955	66031708	222	12013											
BET1	10282	broad.mit.edu	37	chr7	93628607	93628607	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaggtactccttcacCtgcaaggatcagagtcacaa	12	7	10	12	0	3	1	3	0	0	1	4	3	4	3	3	3	2	2	3	3	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:93628607C>A	ENST00000222547.3	-	2	178		c.e2-1		AC006378.2_ENST00000426193.2_RNA|AC006378.2_ENST00000426634.1_RNA|BET1_ENST00000425626.1_Splice_Site|BET1_ENST00000433727.1_Splice_Site	NM_005868.4	NP_005859.1	O15155	BET1_HUMAN	Bet1 golgi vesicular membrane trafficking protein						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			ACTCCTTCACCTGCAAGGATC	0.458													33	66					5.8336e-16	7.50219e-16	1	0	A	93628607	C	A	93628607	5	1	61	1	0	0	0	0	0	0	1	0	1412	695	24	4	349	4	BET1	7	93628607	Splice_Site	SNP	C	TCGA-CN-4727-01A-01D-1434-08	521652	93628607	65510056	223	12014											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519481	113519481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtctctgttactagctcCaatccctgccacacttattt	8	14	5	14	0	1	0	0	0	1	0	4	0	3	0	3	1	3	2	3	1	4	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:113519481C>T	ENST00000284601.3	-	4	1734	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	556					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTACTAGCTCCAATCCCTGCC	0.418													64	136					0	0	0	0	T	113519481	C	T	113519481	3	4	61	1	0	0	0	0	1	0	0	0	12447	603	21	4	1706	4	PPP1R3A	7	113519481	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	19890874	113519481	45619182	224	12015											
DGKI	9162	broad.mit.edu	37	chr7	137206698	137206698	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggatcctcagacgatctGggacagactggggactgcaa	10	6	13	12	2	2	2	1	0	1	2	3	6	3	5	2	4	1	1	2	4	1	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:137206698G>C	ENST00000453654.1	-	21	1801	c.1262C>G	c.(1261-1263)cCa>cGa	p.P421R	DGKI_ENST00000288490.5_Missense_Mutation_p.P721R|DGKI_ENST00000446122.1_Missense_Mutation_p.P721R|DGKI_ENST00000424189.2_Missense_Mutation_p.P742R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	721	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CAGACGATCTGGGACAGACTG	0.458													15	46					0	0	0	0	C	137206698	G	C	137206698	3	2	61	1	0	0	0	0	1	0	0	0	4508	1348	47	4	1091	4	DGKI	7	137206698	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	23687217	137206698	21931965	225	12016											
TRPV5	56302	broad.mit.edu	37	chr7	142605970	142605970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attctgatcattgtggttctCaaccctgataaggggaaagg	11	12	11	7	0	3	2	2	2	2	0	4	3	3	3	1	4	1	1	1	4	3	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:142605970C>T	ENST00000265310.1	-	15	2248	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	634					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TTGTGGTTCTCAACCCTGATA	0.502													33	82					0	0	0	0	T	142605970	C	T	142605970	3	4	61	1	0	0	0	0	1	0	0	0	16694	835	29	2	293	2	TRPV5	7	142605970	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	5399272	142605970	16532693	226	12017											
CNTNAP2	26047	broad.mit.edu	37	chr7	147844745	147844745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggctaccgcagcagatccGcaaggccccaacagaaggcc	11	2	11	17	3	0	2	0	0	0	2	1	2	1	2	6	3	3	4	6	3	4	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:147844745G>C	ENST00000361727.3	+	17	3233	c.2717G>C	c.(2716-2718)cGc>cCc	p.R906P	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	906	Laminin G-like 3.		R -> H.		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGCAGATCCGCAAGGCCCCA	0.557										HNSCC(39;0.1)			35	79					0	0	0	0	C	147844745	G	C	147844745	3	2	61	1	0	0	0	0	1	0	0	0	3677	1087	38	3	2783	3	CNTNAP2	7	147844745	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	5238775	147844745	11293918	227	12018											
DPP6	1804	broad.mit.edu	37	chr7	154519576	154519576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgtgatttacaatggcCtcagtgactggctgtatgaa	11	12	12	6	0	1	3	1	3	0	0	1	3	1	3	1	3	1	2	1	3	5	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:154519576C>T	ENST00000404039.1	+	8	1257	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	DPP6_ENST00000377770.3_Missense_Mutation_p.L288F|DPP6_ENST00000332007.3_Missense_Mutation_p.L226F|DPP6_ENST00000427557.1_Missense_Mutation_p.L181F	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	288					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTACAATGGCCTCAGTGACTG	0.428													26	61					0	0	0	0	T	154519576	C	T	154519576	3	4	61	1	0	0	0	0	1	0	0	0	4766	681	24	4	1008	4	DPP6	7	154519576	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	6674831	154519576	4619087	228	12019											
NCAPG2	54892	broad.mit.edu	37	chr7	158445168	158445168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaacataaaaaaatccCttcactagaaagaaaattgg	22	8	5	6	0	1	3	1	1	0	2	2	3	2	3	1	1	1	0	1	1	10	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:158445168C>T	ENST00000409339.3	-	23	2864	c.2751G>A	c.(2749-2751)aaG>aaA	p.K917K	NCAPG2_ENST00000541468.1_Silent_p.K418K|NCAPG2_ENST00000449727.2_Silent_p.K917K|NCAPG2_ENST00000409423.1_Silent_p.K917K|NCAPG2_ENST00000356309.3_Silent_p.K917K|NCAPG2_ENST00000275830.10_Silent_p.K709K			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	917					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AAAAAAATCCCTTCACTAGAA	0.303													18	53					0	0	0	0	T	158445168	C	T	158445168	2	4	61	1	0	0	0	0	0	0	0	1	10278	680	24	4		4	NCAPG2	7	158445168	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	3925592	158445168	693495	229	12020											
RP1L1	94137	broad.mit.edu	37	chr8	10465328	10465328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accttctgattctggctgggCctccccttctgcctcctggg	2	13	10	16	0	3	1	0	1	3	0	5	1	5	1	6	3	1	1	6	3	0	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:10465328C>T	ENST00000382483.3	-	4	6503	c.6280G>A	c.(6280-6282)Gcc>Acc	p.A2094T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2094					intracellular signal transduction					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)		TCTGGCTGGGCCTCCCCTTCT	0.627													171	177					0	0	0	0	T	10465328	C	T	10465328	3	4	61	1	0	0	0	0	1	0	0	0	13618	739	26	4	926	4	RP1L1	8	10465328	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08		10465328	135898694	230	12021											
WRN	7486	broad.mit.edu	37	chr8	30958449	30958449	+	Frame_Shift_Del	DEL	C	C	-																															ttcattcaggaagttgggctCcctaaagacagcactgccaa																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:30958449delC	ENST00000298139.5	+	18	2315	c.2066delC	c.(2065-2067)tcfs	p.S689fs		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	689	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAGTTGGGCTCCCTAAAGACA	0.433			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				23	23	---	---	---	---					-	30958449	C	-	30958449	7	5	61	1	0	1	0	1	0	0	0	0	17498	855	30	0	2132	0	WRN	8	30958449	Frame_Shift_Del	DEL	C	TCGA-CN-4727-01A-01D-1434-08	20493121	30958449	115405573	231	12022											
PCMTD1	115294	broad.mit.edu	37	chr8	52733170	52733170	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttccttttgggtggaGccctttgaggaatccccttg	4	17	10	10	0	1	1	0	1	1	0	3	3	3	3	4	3	1	0	4	3	1	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:52733170G>C	ENST00000360540.5	-	7	1221	c.815C>G	c.(814-816)gCt>gGt	p.A272G	PCMTD1_ENST00000522514.1_Missense_Mutation_p.A272G|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A196G	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	272						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTTGGGTGGAGCCCTTTGAGG	0.423													37	320					0	0	0	0	C	52733170	G	C	52733170	3	2	61	1	0	0	0	0	1	0	0	0	11657	971	34	4	262	4	PCMTD1	8	52733170	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	21774721	52733170	93630852	232	12023											
ATP6V1H	51606	broad.mit.edu	37	chr8	54669197	54669197	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggggatcatctgacacttCcaaaagttttgtcaagattc	11	14	8	8	0	3	2	2	1	1	1	5	3	4	3	1	2	0	1	1	2	3	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:54669197C>A	ENST00000355221.3	-	11	1700	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	ATP6V1H_ENST00000523899.1_Intron|ATP6V1H_ENST00000396774.2_Nonsense_Mutation_p.E399*|ATP6V1H_ENST00000520188.1_Nonsense_Mutation_p.E359*|ATP6V1H_ENST00000359530.2_Nonsense_Mutation_p.E399*	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	399					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TCTGACACTTCCAAAAGTTTT	0.378													9	53					0.000274275	0.000291355	1	0	A	54669197	C	A	54669197	4	1	61	1	0	0	0	0	0	1	0	0	1193	864	30	2	268	2	ATP6V1H	8	54669197	Nonsense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1936027	54669197	91694825	233	12024											
XKR4	114786	broad.mit.edu	37	chr8	56015496	56015496	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggttcgggctcacgctcTtcttcgtggtgctcggctct	1	14	14	12	4	4	0	1	0	3	0	7	0	4	0	0	5	1	5	0	5	0	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:56015496T>C	ENST00000327381.5	+	1	548	c.448T>C	c.(448-450)Ttc>Ctc	p.F150L		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	150						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTCACGCTCTTCTTCGTGGT	0.662													13	59					0	0	0	0	C	56015496	T	C	56015496	3	2	61	1	0	0	0	0	1	0	0	0	17529	1609	56	5	450	5	XKR4	8	56015496	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	1346299	56015496	90348526	234	12025											
CLVS1	157807	broad.mit.edu	37	chr8	62212769	62212769	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgatcgatgggttccccgGggtgctggaaaaccgagacc	8	8	14	11	3	1	2	0	1	1	1	3	5	2	3	4	4	2	2	4	4	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:62212769G>C	ENST00000519846.1	+	3	855	c.383G>C	c.(382-384)gGg>gCg	p.G128A	CLVS1_ENST00000325897.4_Missense_Mutation_p.G128A|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	128	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGGTTCCCCGGGGTGCTGGAA	0.478													33	56					0	0	0	0	C	62212769	G	C	62212769	3	2	61	1	0	0	0	0	1	0	0	0	3601	1232	43	4	385	4	CLVS1	8	62212769	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	6197273	62212769	84151253	235	12026											
PREX2	80243	broad.mit.edu	37	chr8	69129909	69129909	+	Frame_Shift_Del	DEL	C	C	-																															tggccagaagccacggactgCcacctcgttacatcatgcag																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:69129909delC	ENST00000288368.4	+	38	4940	c.4663delC	c.(4663-4665)cafs	p.P1556fs		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1556					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CCACGGACTGCCACCTCGTTA	0.552													19	82	---	---	---	---					-	69129909	C	-	69129909	7	5	61	1	0	1	0	1	0	0	0	0	12557	739	26	0	5042	0	PREX2	8	69129909	Frame_Shift_Del	DEL	C	TCGA-CN-4727-01A-01D-1434-08	6917140	69129909	77234113	236	12027											
RUNX1T1	862	broad.mit.edu	37	chr8	93029586	93029586	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgtggagtgcttctcagTacgatctggaggatgccacc	8	11	12	10	1	2	0	1	0	2	0	3	4	2	3	2	3	3	2	2	3	1	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:93029586T>A	ENST00000523629.1	-	3	548	c.94A>T	c.(94-96)Act>Tct	p.T32S	RUNX1T1_ENST00000520724.1_5'UTR|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T5S|RUNX1T1_ENST00000360348.2_5'UTR|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T5S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T32S|RUNX1T1_ENST00000522163.1_5'UTR|RUNX1T1_ENST00000422361.2_5'UTR|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T43S|RUNX1T1_ENST00000521553.1_5'UTR	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	32					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)			TGCTTCTCAGTACGATCTGGA	0.458													13	92					0	0	0	0	A	93029586	T	A	93029586	3	1	61	1	0	0	0	0	1	0	0	0	13832	1638	57	5	1760	5	RUNX1T1	8	93029586	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	23899677	93029586	53334436	237	12028											
PKHD1L1	93035	broad.mit.edu	37	chr8	110448575	110448575	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcttatgaaggtggtactCtactgactttatctggattt	8	19	8	6	0	3	2	0	2	3	0	3	3	3	3	0	3	2	1	0	3	5	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:110448575C>G	ENST00000378402.5	+	30	3618	c.3514C>G	c.(3514-3516)Cta>Gta	p.L1172V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1172	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGTGGTACTCTACTGACTTT	0.308										HNSCC(38;0.096)			10	89					0	0	0	0	G	110448575	C	G	110448575	3	3	61	1	0	0	0	0	1	0	0	0	12044	912	32	2	3632	2	PKHD1L1	8	110448575	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	17418989	110448575	35915447	238	12029											
PKHD1L1	93035	broad.mit.edu	37	chr8	110535590	110535590	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagctgttgggccaactaCacagaccttactccccttag	10	9	8	14	0	0	1	0	0	0	1	1	1	1	1	4	1	5	3	4	1	4	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:110535590C>T	ENST00000378402.5	+	76	12563	c.12459C>T	c.(12457-12459)taC>taT	p.Y4153Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4153					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGCCAACTACACAGACCTTA	0.393										HNSCC(38;0.096)			58	75					0	0	0	0	T	110535590	C	T	110535590	2	4	61	1	0	0	0	0	0	0	0	1	12044	489	17	4		4	PKHD1L1	8	110535590	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	87015	110535590	35828432	239	12030											
CSMD3	114788	broad.mit.edu	37	chr8	113599296	113599296	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgtctgagttcacctaccTtaagaacatctccttgtgct	9	15	6	11	0	3	2	1	1	2	1	4	2	3	2	3	0	3	2	3	0	4	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:113599296T>A	ENST00000297405.5	-	23	4128	c.3885_splice	c.e23+1	p.K1295_splice	CSMD3_ENST00000343508.3_Splice_Site_p.K1255_splice|CSMD3_ENST00000352409.3_Splice_Site_p.K1295_splice|CSMD3_ENST00000455883.2_Splice_Site_p.K1191_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1295	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCACCTACCTTAAGAACATC	0.289										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			67	57					0	0	0	0	A	113599296	T	A	113599296	5	1	61	1	0	0	0	0	0	0	1	0	3978	1623	56	5	7435	5	CSMD3	8	113599296	Splice_Site	SNP	T	TCGA-CN-4727-01A-01D-1434-08	3063706	113599296	32764726	240	12031											
EIF3H	8667	broad.mit.edu	37	chr8	117658759	117658759	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcggctgtggtggtttgaaGagtttggacaggtcctcctc	5	12	16	8	1	0	2	0	1	0	1	3	3	2	3	2	6	0	3	2	6	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:117658759G>C	ENST00000521861.1	-	7	935	c.912C>G	c.(910-912)ctC>ctG	p.L304L	EIF3H_ENST00000276682.4_Silent_p.L318L	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	304					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GTGGTTTGAAGAGTTTGGACA	0.542													54	357					0	0	0	0	C	117658759	G	C	117658759	2	2	61	1	0	0	0	0	0	0	0	1	5056	929	33	2		2	EIF3H	8	117658759	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	4059463	117658759	28705263	241	12032											
SNTB1	6641	broad.mit.edu	37	chr8	121823957	121823957	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagaaccagggcgtcctCgctcaagttcaccagaactt	10	8	9	14	2	3	2	3	0	0	2	5	2	4	2	3	1	2	3	3	1	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:121823957C>A	ENST00000395601.3	-	2	541	c.127G>T	c.(127-129)Gag>Tag	p.E43*	SNTB1_ENST00000517992.1_Nonsense_Mutation_p.E43*	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	43	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGGCGTCCTCGCTCAAGTTC	0.706													3	60					0.00024832	0.000264753	1	0	A	121823957	C	A	121823957	4	1	61	1	0	0	0	0	0	1	0	0	14960	893	31	3	1517	3	SNTB1	8	121823957	Nonsense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	4165198	121823957	24540065	242	12033											
TG	7038	broad.mit.edu	37	chr8	134031938	134031938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgttcatccctcagaatGtggtgagttcaaaagcactt	11	13	9	8	0	3	2	3	1	0	1	4	2	4	2	1	1	1	3	1	1	3	3	rs114404536	by1000genomes	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:134031938G>A	ENST00000220616.4	+	39	6914	c.6874G>A	c.(6874-6876)Gtg>Atg	p.V2292M	TG_ENST00000377869.1_Missense_Mutation_p.V2235M|TG_ENST00000519543.1_Missense_Mutation_p.V425M|TG_ENST00000542445.1_Missense_Mutation_p.V662M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2292					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCTCAGAATGTGGTGAGTTC	0.512													14	96					0	0	0	0	A	134031938	G	A	134031938	3	1	61	1	0	0	0	0	1	0	0	0	15907	1377	48	4	7028	4	TG	8	134031938	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	12207981	134031938	12332084	243	12034											
ZFAT	57623	broad.mit.edu	37	chr8	135521873	135521873	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccctacctgcttaaccaCagtcaccgtccctggtgcca	7	9	8	17	1	1	0	1	0	0	0	3	0	3	0	6	2	4	1	6	2	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:135521873C>A	ENST00000520727.1	-	16	3744	c.3445G>T	c.(3445-3447)Gtg>Ttg	p.V1149L	ZFAT_ENST00000377838.3_Missense_Mutation_p.V1161L|ZFAT_ENST00000523399.1_Missense_Mutation_p.V1099L|ZFAT_ENST00000520214.1_Missense_Mutation_p.V1149L|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000429442.2_Intron	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGCTTAACCACAGTCACCGTC	0.542													4	212					1	1	1	0	A	135521873	C	A	135521873	3	1	61	1	0	0	0	0	1	0	0	0	17727	478	17	4	258	4	ZFAT	8	135521873	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1489935	135521873	10842149	244	12035											
FAM135B	51059	broad.mit.edu	37	chr8	139158221	139158221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgattcttttcagacattAggaagtccagttttcctcca	9	15	6	11	0	2	2	1	1	1	1	5	3	5	3	4	1	0	1	4	1	2	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:139158221A>G	ENST00000395297.1	-	15	3691	c.3521T>C	c.(3520-3522)cTa>cCa	p.L1174P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1174										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCAGACATTAGGAAGTCCAG	0.433										HNSCC(54;0.14)			42	132					0	0	0	0	G	139158221	A	G	139158221	3	3	61	1	0	0	0	0	1	0	0	0	5490	420	15	5	723	5	FAM135B	8	139158221	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	3636348	139158221	7205801	245	12036											
COL22A1	169044	broad.mit.edu	37	chr8	139833581	139833581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacctcggaagaccaccCtgacagcatctttcatggca	12	7	9	13	1	2	3	1	1	1	2	3	5	2	4	3	2	2	2	3	2	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:139833581C>A	ENST00000303045.6	-	7	1489	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	COL22A1_ENST00000435777.1_Missense_Mutation_p.R348M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	348	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAAGACCACCCTGACAGCATC	0.572										HNSCC(7;0.00092)			44	240					1.97e-11	2.37547e-11	1	0	A	139833581	C	A	139833581	3	1	61	1	0	0	0	0	1	0	0	0	3711	681	24	4	4073	4	COL22A1	8	139833581	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	675360	139833581	6530441	246	12037											
ZNF623	9831	broad.mit.edu	37	chr8	144733535	144733535	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgggagagattttaactCaactacaaacgttaaaaata	18	11	7	5	1	1	1	1	0	0	1	1	3	1	2	0	1	4	2	0	1	9	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:144733535C>A	ENST00000501748.2	+	1	1582	c.1493C>A	c.(1492-1494)tCa>tAa	p.S498*	ZNF623_ENST00000458270.2_Nonsense_Mutation_p.S458*|ZNF623_ENST00000526926.1_Nonsense_Mutation_p.S458*	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GATTTTAACTCAACTACAAAC	0.413													4	238					0.184627	0.186557	1	0	A	144733535	C	A	144733535	4	1	61	1	0	0	0	0	0	1	0	0	18142	838	29	2	1495	2	ZNF623	8	144733535	Nonsense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	4899954	144733535	1630487	247	12038											
FAM83H	286077	broad.mit.edu	37	chr8	144810245	144810245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcgcgccggcgtgagctgCgggtcccactggtactgctg	3	7	18	13	5	0	1	0	1	0	0	1	1	1	1	2	4	4	3	2	4	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:144810245C>T	ENST00000388913.3	-	5	1511	c.1386G>A	c.(1384-1386)ccG>ccA	p.P462P		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	462					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGTGAGCTGCGGGTCCCACT	0.701													7	66					0	0	0	0	T	144810245	C	T	144810245	2	4	61	1	0	0	0	0	0	0	0	1	5686	755	27	1		1	FAM83H	8	144810245	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	76710	144810245	1553777	248	12039											
PUF60	22827	broad.mit.edu	37	chr8	144900183	144900183	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgcggttgaaggcccgTgcctcctcagccaactggtc	7	9	12	13	2	1	2	1	1	0	1	3	2	2	2	4	3	4	1	4	3	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:144900183T>G	ENST00000526683.1	-	8	1221	c.666A>C	c.(664-666)gcA>gcC	p.A222A	PUF60_ENST00000456095.2_Silent_p.A193A|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000527197.1_Silent_p.A176A|PUF60_ENST00000349157.6_Silent_p.A205A|PUF60_ENST00000313352.7_Silent_p.A162A|PUF60_ENST00000453551.2_Silent_p.A179A	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	222	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGAAGGCCCGTGCCTCCTCAG	0.587													5	43					0	0	0	0	G	144900183	T	G	144900183	2	3	61	1	0	0	0	0	0	0	0	1	12906	1683	59	5		5	PUF60	8	144900183	Silent	SNP	T	TCGA-CN-4727-01A-01D-1434-08	89938	144900183	1463839	249	12040											
PLEC	5339	broad.mit.edu	37	chr8	144994359	144994359	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccttttctgagagcggCagcaggctcagcccggtcag	7	7	14	13	2	3	1	2	1	1	1	3	2	3	1	2	3	4	4	2	3	0	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:144994359C>G	ENST00000322810.4	-	32	10210	c.10041G>C	c.(10039-10041)ctG>ctC	p.L3347L	PLEC_ENST00000527096.1_Silent_p.L3233L|PLEC_ENST00000356346.3_Silent_p.L3196L|PLEC_ENST00000345136.3_Silent_p.L3210L|PLEC_ENST00000398774.2_Silent_p.L3178L|PLEC_ENST00000354589.3_Silent_p.L3210L|PLEC_ENST00000436759.2_Silent_p.L3237L|PLEC_ENST00000354958.2_Silent_p.L3188L|PLEC_ENST00000357649.2_Silent_p.L3214L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3347	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGAGAGCGGCAGCAGGCTCA	0.682													5	45					0	0	0	0	G	144994359	C	G	144994359	2	3	61	1	0	0	0	0	0	0	0	1	12124	697	25	4		4	PLEC	8	144994359	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	94176	144994359	1369663	250	12041											
PARP10	84875	broad.mit.edu	37	chr8	145058522	145058522	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgggtgctccaggcacaaCacatggcagctaatgctgcc	9	6	11	15	1	0	0	0	0	0	0	1	0	1	0	3	3	5	5	3	3	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:145058522C>A	ENST00000313028.7	-	6	1630	c.1536G>T	c.(1534-1536)gtG>gtT	p.V512V	PARP10_ENST00000525773.1_Silent_p.V524V|PARP10_ENST00000524918.1_Silent_p.V512V	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	512						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGCACAACACATGGCAGC	0.637													30	88					2.61193e-14	3.30769e-14	1	0	A	145058522	C	A	145058522	2	1	61	1	0	0	0	0	0	0	0	1	11526	465	17	4		4	PARP10	8	145058522	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	64163	145058522	1305500	251	12042											
RECQL4	9401	broad.mit.edu	37	chr8	145738813	145738813	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtacccgccgccgttccCggctgcacatgcccgcgtgg	3	7	13	18	6	0	0	0	0	0	0	1	0	1	0	5	2	3	5	5	2	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:145738813C>A	ENST00000428558.2	-	14	2293	c.2252G>T	c.(2251-2253)cGg>cTg	p.R751L	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	751	Helicase C-terminal.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCGCCGTTCCCGGCTGCACAT	0.672			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				16	30					4.96729e-08	5.64907e-08	1	0	A	145738813	C	A	145738813	3	1	61	1	0	0	0	0	1	0	0	0	13284	652	23	3	1407	3	RECQL4	8	145738813	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	680291	145738813	625209	252	12043											
PGM5	5239	broad.mit.edu	37	chr9	71094402	71094402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctccattattgctgccCggaagcagagtgtggaggaa	9	9	14	9	1	1	1	0	0	1	1	2	4	1	4	2	4	3	3	2	4	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:71094402C>T	ENST00000396396.1	+	8	1457	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	410					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TATTGCTGCCCGGAAGCAGAG	0.527													43	250					0	0	0	0	T	71094402	C	T	71094402	3	4	61	1	0	0	0	0	1	0	0	0	11873	643	23	1	1258	1	PGM5	9	71094402	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08		71094402	70119029	253	12044											
TMEM2	23670	broad.mit.edu	37	chr9	74332976	74332976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtggtttttcggggtttgCatcctgatgaggtcgaaatc	7	14	13	7	3	0	2	0	2	0	0	4	3	1	2	1	4	1	3	1	4	1	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:74332976C>A	ENST00000377044.4	-	13	2826	c.2287G>T	c.(2287-2289)Gca>Tca	p.A763S	TMEM2_ENST00000377066.5_Missense_Mutation_p.A700S	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	763						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCGGGGTTTGCATCCTGATGA	0.348													100	94					1.07277e-64	1.6771e-64	1	0	A	74332976	C	A	74332976	3	1	61	1	0	0	0	0	1	0	0	0	16215	710	25	4	1912	4	TMEM2	9	74332976	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	3238574	74332976	66880455	254	12045											
PRUNE2	158471	broad.mit.edu	37	chr9	79325172	79325172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaacagattcctgttcactgGaactccacgcatctgcaata	13	10	6	12	1	2	1	1	0	1	1	4	2	4	2	2	1	3	3	2	1	4	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:79325172G>T	ENST00000428286.1	-	8	2141	c.941C>A	c.(940-942)tCc>tAc	p.S314Y	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S673Y			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	673					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGTTCACTGGAACTCCACGC	0.493													72	57					2.84776e-26	4.04828e-26	1	0	T	79325172	G	T	79325172	3	4	61	1	0	0	0	0	1	0	0	0	12720	1174	41	2	7296	2	PRUNE2	9	79325172	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	4992196	79325172	61888259	255	12046											
DAPK1	1612	broad.mit.edu	37	chr9	90317991	90317991	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaatcatctccacgctGccttcctggaggaagctcaa	12	8	9	12	1	3	1	2	0	1	1	5	4	4	3	3	2	2	2	3	2	4	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:90317991G>T	ENST00000469640.2	+	26	3369	c.2994G>T	c.(2992-2994)ctG>ctT	p.L998L	DAPK1_ENST00000491893.1_Silent_p.L907L|DAPK1_ENST00000358077.5_Silent_p.L973L|DAPK1_ENST00000408954.3_Silent_p.L973L|DAPK1_ENST00000472284.1_Silent_p.L973L			P53355	DAPK1_HUMAN	death-associated protein kinase 1	973					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCTCCACGCTGCCTTCCTGGA	0.597									Chronic Lymphocytic Leukemia, Familial Clustering of				33	127					1.22384e-17	1.61324e-17	1	0	T	90317991	G	T	90317991	2	4	61	1	0	0	0	0	0	0	0	1	4268	1306	46	4		4	DAPK1	9	90317991	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	10992819	90317991	50895440	256	12047											
SHC3	53358	broad.mit.edu	37	chr9	91656972	91656972	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctttccttgggctgctCtcagcactgctgaccgcagc	5	11	11	14	1	2	1	1	1	2	0	4	1	3	1	2	2	4	5	2	2	0	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:91656972C>A	ENST00000375835.4	-	10	1635	c.1329G>T	c.(1327-1329)gaG>gaT	p.E443D	SHC3_ENST00000375830.1_5'UTR|SHC3_ENST00000375831.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	443	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TTGGGCTGCTCTCAGCACTGC	0.517													26	140					1.08312e-15	1.38984e-15	1	0	A	91656972	C	A	91656972	3	1	61	1	0	0	0	0	1	0	0	0	14360	912	32	2	467	2	SHC3	9	91656972	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1338981	91656972	49556459	257	12048											
ZNF484	83744	broad.mit.edu	37	chr9	95609023	95609023	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagtatgggattgctgAtgtatatggagacctgactt	9	14	11	7	0	1	3	0	2	1	1	2	5	1	4	2	2	1	3	2	2	3	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:95609023A>T	ENST00000395505.2	-	3	2030	c.1938T>A	c.(1936-1938)caT>caA	p.H646Q	ZNF484_ENST00000375495.3_Missense_Mutation_p.H682Q|ZNF484_ENST00000395506.3_Missense_Mutation_p.H684Q|ZNF484_ENST00000332591.6_Missense_Mutation_p.H646Q|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GGGATTGCTGATGTATATGGA	0.398													155	101					0	0	0	0	T	95609023	A	T	95609023	3	4	61	1	0	0	0	0	1	0	0	0	18032	330	12	5	516	5	ZNF484	9	95609023	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	3952051	95609023	45604408	258	12049											
GALNT12	79695	broad.mit.edu	37	chr9	101608273	101608273	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagtttttcgagtacacGtcccagaaagaaatacgcta	13	13	7	8	3	0	2	0	0	0	2	2	3	1	2	1	0	2	3	1	0	6	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:101608273G>A	ENST00000375011.3	+	9	1473	c.1473G>A	c.(1471-1473)acG>acA	p.T491T		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	491	Ricin B-type lectin.		T -> M (in CRCS1; germline mutation; loss of activity).			Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TCGAGTACACGTCCCAGAAAG	0.473													18	54					0	0	0	0	A	101608273	G	A	101608273	2	1	61	1	0	0	0	0	0	0	0	1	6259	1132	40	1		1	GALNT12	9	101608273	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	5999250	101608273	39605158	259	12050											
CEL	1056	broad.mit.edu	37	chr9	135947074	135947074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccccctgtgccccccacgGgtgactctgaggctgcccct	3	7	10	21	1	1	2	0	2	1	0	1	2	1	2	8	2	2	1	8	2	0	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:135947074G>T	ENST00000372080.4	+	11	2210	c.2194G>T	c.(2194-2196)Ggt>Tgt	p.G732C	CEL_ENST00000351304.7_Missense_Mutation_p.G663C	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	729	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCCCCCCACGGGTGACTCTGA	0.682													15	82					2.32078e-09	2.71382e-09	1	0	T	135947074	G	T	135947074	3	4	61	1	0	0	0	0	1	0	0	0	3238	1232	43	4	2236	4	CEL	9	135947074	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	34338801	135947074	5266357	260	12051											
DIP2C	22982	broad.mit.edu	37	chr10	394634	394634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcgatgttctgtgggtgcgGgggacggacggttattggca	5	10	19	7	5	1	0	0	0	1	0	1	3	1	2	0	6	1	3	0	6	1	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:394634G>A	ENST00000280886.6	-	26	3265	c.3178C>T	c.(3178-3180)Ccg>Tcg	p.P1060S		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1060						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTGGGTGCGGGGGACGGACG	0.542													152	165					0	0	0	0	A	394634	G	A	394634	3	1	61	1	0	0	0	0	1	0	0	0	4566	1232	43	4	1540	4	DIP2C	10	394634	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08		394634	135140113	261	12052											
PITRM1	10531	broad.mit.edu	37	chr10	3190187	3190187	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaataaagttacttgttaaaTatttcactccatagctgcat	15	15	4	7	0	1	0	1	0	0	0	2	0	2	0	1	0	3	4	1	0	8	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:3190187T>A	ENST00000380989.2	-	18	2102	c.2064A>T	c.(2062-2064)atA>atT	p.I688I	PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000224949.4_Silent_p.I687I|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Silent_p.I245I|PITRM1_ENST00000451104.2_Intron	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	589					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ACTTGTTAAATATTTCACTCC	0.398													44	52					0	0	0	0	A	3190187	T	A	3190187	2	1	61	1	0	0	0	0	0	0	0	1	12025	1396	49	5		5	PITRM1	10	3190187	Silent	SNP	T	TCGA-CN-4727-01A-01D-1434-08	2795553	3190187	132344560	262	12053											
ASB13	79754	broad.mit.edu	37	chr10	5693182	5693182	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgccaactcaccgctcaTgcaggcctcgtgcagggggg	6	7	14	14	2	3	0	2	0	1	0	4	0	3	0	3	4	4	3	3	4	1	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:5693182T>G	ENST00000357700.6	-	3	402	c.376A>C	c.(376-378)Atg>Ctg	p.M126L	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	126					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		TCACCGCTCATGCAGGCCTCG	0.612													31	211					0	0	0	0	G	5693182	T	G	5693182	3	3	61	1	0	0	0	0	1	0	0	0	1021	1464	51	5	476	5	ASB13	10	5693182	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	2502995	5693182	129841565	263	12054											
ITIH2	3698	broad.mit.edu	37	chr10	7773950	7773950	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaatagagagcgttatcacGgcgacttcggtacttccact	11	10	9	11	4	1	1	1	0	0	1	3	3	2	1	1	2	2	2	1	2	4	5	rs150260189		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:7773950G>A	ENST00000358415.4	+	13	1804	c.1638G>A	c.(1636-1638)acG>acA	p.T546T	ITIH2_ENST00000379587.4_Silent_p.T535T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	546					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCGTTATCACGGCGACTTCGG	0.438													14	148					0	0	0	0	A	7773950	G	A	7773950	2	1	61	1	0	0	0	0	0	0	0	1	7957	1103	39	1		1	ITIH2	10	7773950	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2080768	7773950	127760797	264	12055											
PTER	9317	broad.mit.edu	37	chr10	16526679	16526679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggctttggtggaaaacaCaaccactgggattagccgag	12	7	14	8	1	0	0	0	0	0	0	0	3	0	2	2	5	3	1	2	5	4	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:16526679C>A	ENST00000378000.1	+	3	542	c.296C>A	c.(295-297)aCa>aAa	p.T99K	PTER_ENST00000298942.3_Missense_Mutation_p.T99K|PTER_ENST00000423462.2_Missense_Mutation_p.T99K|PTER_ENST00000535784.2_Missense_Mutation_p.T99K	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	99					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GTGGAAAACACAACCACTGGG	0.443													15	104					1.15088e-07	1.30119e-07	1	0	A	16526679	C	A	16526679	3	1	61	1	0	0	0	0	1	0	0	0	12818	478	17	4	298	4	PTER	10	16526679	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	8752729	16526679	119008068	265	12056											
CUBN	8029	broad.mit.edu	37	chr10	16955852	16955852	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggatgcgtggccagcctCaggttgttaaacattagggt	9	10	14	8	2	1	0	1	0	0	0	1	2	1	1	2	4	3	2	2	4	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:16955852C>A	ENST00000377833.4	-	48	7556	c.7491G>T	c.(7489-7491)ctG>ctT	p.L2497L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2497	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGCCAGCCTCAGGTTGTTAA	0.517													43	261					2.00842e-17	2.64146e-17	1	0	A	16955852	C	A	16955852	2	1	61	1	0	0	0	0	0	0	0	1	4083	813	29	2		2	CUBN	10	16955852	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	429173	16955852	118578895	266	12057											
CUBN	8029	broad.mit.edu	37	chr10	17032445	17032445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagatacactccttgtttGgtggatacctgttggggaac	9	12	11	9	0	0	1	0	0	0	1	1	3	1	3	3	4	3	2	3	4	3	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:17032445G>T	ENST00000377833.4	-	29	4303	c.4238C>A	c.(4237-4239)cCa>cAa	p.P1413Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1413	CUB 9.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCTTGTTTGGTGGATACCT	0.512													24	143					3.6726e-16	4.74412e-16	1	0	T	17032445	G	T	17032445	3	4	61	1	0	0	0	0	1	0	0	0	4083	1348	47	4	6789	4	CUBN	10	17032445	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	76593	17032445	118502302	267	12058											
VIM	7431	broad.mit.edu	37	chr10	17275622	17275622	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctggcacgtcttgaccttGaacgcaaagtggaatctttg	9	12	10	10	2	3	2	0	2	3	0	3	3	3	3	1	2	1	2	1	2	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:17275622G>C	ENST00000544301.1	+	4	1074	c.661G>C	c.(661-663)Gaa>Caa	p.E221Q	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000224237.5_Missense_Mutation_p.E221Q	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	221	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTTGACCTTGAACGCAAAGT	0.423													60	81					0	0	0	0	C	17275622	G	C	17275622	3	2	61	1	0	0	0	0	1	0	0	0	17262	1291	45	2	671	2	VIM	10	17275622	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	243177	17275622	118259125	268	12059											
SLC39A12	221074	broad.mit.edu	37	chr10	18250541	18250541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgcactattactaatagCtggaggaaattttgaagatc	15	12	9	5	0	0	3	0	1	0	2	1	5	0	5	0	2	3	2	0	2	6	6	rs150700069		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:18250541C>A	ENST00000377369.2	+	3	566	c.293C>A	c.(292-294)gCt>gAt	p.A98D	SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.A98D|SLC39A12_ENST00000377374.4_Missense_Mutation_p.A98D	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	98					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTACTAATAGCTGGAGGAAAT	0.358													89	84					6.31949e-53	9.80027e-53	1	0	A	18250541	C	A	18250541	3	1	61	1	0	0	0	0	1	0	0	0	14703	797	28	4	299	4	SLC39A12	10	18250541	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	974919	18250541	117284206	269	12060											
MKX	283078	broad.mit.edu	37	chr10	28030397	28030397	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccatgtcttgcagggcctgCcgcttgtgcctcaccttccc	3	11	10	17	1	2	0	1	0	1	0	3	0	3	0	6	1	3	2	6	1	0	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:28030397C>T	ENST00000375790.5	-	3	657	c.225G>A	c.(223-225)cgG>cgA	p.R75R	MKX_ENST00000419761.1_Silent_p.R75R			Q8IYA7	MKX_HUMAN	mohawk homeobox	75					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCAGGGCCTGCCGCTTGTGCC	0.662													4	58					0	0	0	0	T	28030397	C	T	28030397	2	4	61	1	0	0	0	0	0	0	0	1	9679	726	26	4		4	MKX	10	28030397	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	9779856	28030397	107504350	270	12061											
SVIL	6840	broad.mit.edu	37	chr10	29762806	29762806	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagctccaccgtcatcagCgccgacgtgcccttctcact	6	9	7	19	4	3	0	3	0	1	0	6	1	5	0	5	0	3	1	5	0	0	1	rs139597633		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:29762806C>G	ENST00000375398.2	-	32	5939	c.5490G>C	c.(5488-5490)gcG>gcC	p.A1830A	SVIL_ENST00000535393.1_Silent_p.A744A|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000355867.4_Silent_p.A1830A|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375400.3_Silent_p.A1404A|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000414457.1_RNA			O95425	SVIL_HUMAN	supervillin	1830					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCGTCATCAGCGCCGACGTGC	0.647													24	80					0	0	0	0	G	29762806	C	G	29762806	2	3	61	1	0	0	0	0	0	0	0	1	15511	755	27	3		3	SVIL	10	29762806	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1732409	29762806	105771941	271	12062											
RTKN2	219790	broad.mit.edu	37	chr10	63964747	63964747	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaattatggattcttttcTtggcatccttatccattgcc	9	17	6	9	0	2	1	0	0	2	1	4	2	4	2	3	2	1	1	3	2	3	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:63964747T>C	ENST00000373789.3	-	10	1151	c.1055A>G	c.(1054-1056)aAg>aGg	p.K352R	RTKN2_ENST00000315289.2_Missense_Mutation_p.K154R|RTKN2_ENST00000395265.1_Missense_Mutation_p.K373R	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	352	PH.				signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GATTCTTTTCTTGGCATCCTT	0.348													30	77					0	0	0	0	C	63964747	T	C	63964747	3	2	61	1	0	0	0	0	1	0	0	0	13808	1609	56	5	786	5	RTKN2	10	63964747	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	34201941	63964747	71570000	272	12063											
JMJD1C	221037	broad.mit.edu	37	chr10	64967944	64967944	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggaagatgttctggtatcTtgcctactaaaccttcactt	9	15	8	9	0	3	1	1	0	2	1	3	2	3	2	2	2	3	2	2	2	5	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:64967944T>A	ENST00000399262.2	-	10	3703	c.3485A>T	c.(3484-3486)aAg>aTg	p.K1162M	JMJD1C_ENST00000399251.1_Missense_Mutation_p.K943M|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K943M|JMJD1C_ENST00000542921.1_Missense_Mutation_p.K980M	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1162					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTCTGGTATCTTGCCTACTAA	0.393													83	147					0	0	0	0	A	64967944	T	A	64967944	3	1	61	1	0	0	0	0	1	0	0	0	8003	1609	56	5	4205	5	JMJD1C	10	64967944	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	1003197	64967944	70566803	273	12064											
HKDC1	80201	broad.mit.edu	37	chr10	70987072	70987072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaggacaccaaccccaCggctgcagtgaagatgttgc	12	5	12	12	1	0	2	0	1	0	1	0	3	0	3	3	3	3	4	3	3	3	1	rs142379141		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:70987072C>T	ENST00000354624.5	+	2	306	c.173C>T	c.(172-174)aCg>aTg	p.T58M	RP11-227H15.4_ENST00000450995.1_RNA|HKDC1_ENST00000395086.2_Missense_Mutation_p.T58M	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	58					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACCAACCCCACGGCTGCAGTG	0.597													23	62					0	0	0	0	T	70987072	C	T	70987072	3	4	61	1	0	0	0	0	1	0	0	0	7243	536	19	1	179	1	HKDC1	10	70987072	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	6019128	70987072	64547675	274	12065											
LRIT2	340745	broad.mit.edu	37	chr10	85984691	85984691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggcaggtgttccagggctCctaggtggatcacactgata	8	10	13	10	0	1	1	1	1	0	0	3	2	3	2	2	5	0	3	2	5	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:85984691C>G	ENST00000372113.4	-	2	295	c.290G>C	c.(289-291)gGa>gCa	p.G97A	LRIT2_ENST00000538192.1_Missense_Mutation_p.G97A	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	97						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TTCCAGGGCTCCTAGGTGGAT	0.517													58	168					0	0	0	0	G	85984691	C	G	85984691	3	3	61	1	0	0	0	0	1	0	0	0	9012	855	30	2	1370	2	LRIT2	10	85984691	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	14997619	85984691	49550056	275	12066											
RGR	5995	broad.mit.edu	37	chr10	86014184	86014184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagcagaaactggggaaGagtggccatctccaggtaag	13	6	15	7	0	1	2	0	0	1	2	2	4	1	4	2	5	2	2	2	5	3	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:86014184G>T	ENST00000359452.4	+	5	665	c.627G>T	c.(625-627)aaG>aaT	p.K209N	RGR_ENST00000358110.5_Missense_Mutation_p.K205N	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	205					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						AACTGGGGAAGAGTGGCCATC	0.527													18	77					2.35188e-11	2.83006e-11	1	0	T	86014184	G	T	86014184	3	4	61	1	0	0	0	0	1	0	0	0	13374	933	33	2	645	2	RGR	10	86014184	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	29493	86014184	49520563	276	12067											
CYP2C18	1562	broad.mit.edu	37	chr10	96495160	96495160	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgccaatgcatttggtCgtgtgccacccttgtaccag	7	12	9	13	1	0	0	0	0	0	0	1	0	0	0	5	1	4	2	5	1	2	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:96495160C>A	ENST00000285979.6	+	9	1631	c.1432C>A	c.(1432-1434)Cgt>Agt	p.R478S	CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Missense_Mutation_p.R419S	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TGCATTTGGTCGTGTGCCACC	0.478													41	155					1.32136e-16	1.71835e-16	1	0	A	96495160	C	A	96495160	3	1	61	1	0	0	0	0	1	0	0	0	4197	884	31	3	1466	3	CYP2C18	10	96495160	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	10480976	96495160	39039587	277	12068											
ZDHHC16	84287	broad.mit.edu	37	chr10	99215802	99215802	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgggtgtggatacaggaagGtaatgtaagacacacagact	14	8	13	6	0	0	2	0	0	0	2	0	4	0	4	0	4	1	2	0	4	4	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:99215802G>C	ENST00000393760.1	+	11	1368		c.e11+1		ZDHHC16_ENST00000495735.1_Splice_Site|ZDHHC16_ENST00000370842.2_Splice_Site|ZDHHC16_ENST00000345745.5_Splice_Site|ZDHHC16_ENST00000352634.4_Splice_Site|ZDHHC16_ENST00000353979.3_Splice_Site|ZDHHC16_ENST00000370846.4_Splice_Site|ZDHHC16_ENST00000370854.3_Splice_Site	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16						apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		ATACAGGAAGGTAATGTAAGA	0.438													14	58					0	0	0	0	C	99215802	G	C	99215802	5	2	61	1	0	0	0	0	0	0	1	0	17701	1275	44	4	1054	4	ZDHHC16	10	99215802	Splice_Site	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2720642	99215802	36318945	278	12069											
HPSE2	60495	broad.mit.edu	37	chr10	100219421	100219421	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaatgtccggccggcccgAagggggcggggcttcaattc	7	6	15	13	4	1	0	1	0	0	0	3	1	2	0	4	6	0	1	4	6	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:100219421A>T	ENST00000370552.3	-	12	1748	c.1689T>A	c.(1687-1689)ctT>ctA	p.L563L	HPSE2_ENST00000370549.1_Silent_p.L505L|HPSE2_ENST00000404542.1_Silent_p.L451L|HPSE2_ENST00000370546.1_3'UTR	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	563					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGCCGGCCCGAAGGGGGCGGG	0.557													14	40					0	0	0	0	T	100219421	A	T	100219421	2	4	61	1	0	0	0	0	0	0	0	1	7395	233	9	5		5	HPSE2	10	100219421	Silent	SNP	A	TCGA-CN-4727-01A-01D-1434-08	1003619	100219421	35315326	279	12070											
DNMBP	23268	broad.mit.edu	37	chr10	101658519	101658519	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattcgttgtataggctccTgcaaggcagtgggcatgaaa	10	10	12	9	1	0	1	0	1	0	0	2	1	1	1	2	3	1	6	2	3	4	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:101658519T>C	ENST00000342239.3	-	8	2794		c.e8-2		DNMBP_ENST00000324109.4_Splice_Site|DNMBP_ENST00000543621.1_Splice_Site			Q6XZF7	DNMBP_HUMAN	dynamin binding protein						intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TATAGGCTCCTGCAAGGCAGT	0.368													42	120					0	0	0	0	C	101658519	T	C	101658519	5	2	61	1	0	0	0	0	0	0	1	0	4710	1594	55	5	2072	5	DNMBP	10	101658519	Splice_Site	SNP	T	TCGA-CN-4727-01A-01D-1434-08	1439098	101658519	33876228	280	12071											
SORCS3	22986	broad.mit.edu	37	chr10	106675638	106675638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagctgaatgacaaagtggGtttgaagactgtcctcagtt	13	11	11	6	0	1	4	1	3	0	1	2	4	2	4	1	1	1	3	1	1	4	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:106675638G>A	ENST00000369701.3	+	3	970	c.743G>A	c.(742-744)gGt>gAt	p.G248D		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	248						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACAAAGTGGGTTTGAAGACT	0.468													26	73					0	0	0	0	A	106675638	G	A	106675638	3	1	61	1	0	0	0	0	1	0	0	0	15020	1261	44	4	753	4	SORCS3	10	106675638	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	5017119	106675638	28859109	281	12072											
SORCS1	114815	broad.mit.edu	37	chr10	108389039	108389039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacacggaaaatgcccacGttctgatagacgtgtttgat	11	11	10	9	3	2	3	1	2	1	1	2	4	2	4	1	1	1	2	1	1	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:108389039G>T	ENST00000263054.6	-	19	2590	c.2583C>A	c.(2581-2583)aaC>aaA	p.N861K	SORCS1_ENST00000369698.1_Missense_Mutation_p.N396K|SORCS1_ENST00000344440.6_Missense_Mutation_p.N861K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	861	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAATGCCCACGTTCTGATAGA	0.493													28	30					2.48779e-11	2.98741e-11	1	0	T	108389039	G	T	108389039	3	4	61	1	0	0	0	0	1	0	0	0	15018	1136	40	3	1189	3	SORCS1	10	108389039	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1713401	108389039	27145708	282	12073											
ATRNL1	26033	broad.mit.edu	37	chr10	117486770	117486770	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagcaactgcttcgaGaacgacagcagatggccagc	11	5	10	15	2	0	2	0	0	0	2	2	4	1	2	3	1	6	3	3	1	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:117486770G>T	ENST00000355044.3	+	27	3934	c.3808G>T	c.(3808-3810)Gaa>Taa	p.E1270*	ATRNL1_ENST00000423111.2_Nonsense_Mutation_p.E321*|ATRNL1_ENST00000303745.7_Nonsense_Mutation_p.E63*	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1270						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACTGCTTCGAGAACGACAGCA	0.438													25	42					2.12542e-12	2.61728e-12	1	0	T	117486770	G	T	117486770	4	4	61	1	0	0	0	0	0	1	0	0	1211	943	33	2	3914	2	ATRNL1	10	117486770	Nonsense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	9097731	117486770	18047977	283	12074											
MKI67	4288	broad.mit.edu	37	chr10	129901414	129901414	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctgctgccaattacaTcttctgcgtccagcttccgc	5	13	7	16	2	3	0	0	0	3	0	6	0	5	0	4	0	5	2	4	0	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:129901414T>A	ENST00000368654.3	-	13	9065	c.8690A>T	c.(8689-8691)gAt>gTt	p.D2897V	MKI67_ENST00000368653.3_Missense_Mutation_p.D2537V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2897	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCAATTACATCTTCTGCGTC	0.557													67	264					0	0	0	0	A	129901414	T	A	129901414	3	1	61	1	0	0	0	0	1	0	0	0	9667	1435	50	5	1092	5	MKI67	10	129901414	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	12414644	129901414	5633333	284	12075											
PKP3	11187	broad.mit.edu	37	chr11	404053	404053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgctcaacaacctggtgGtggccagccccatcgctgcc	6	8	11	16	1	1	0	1	0	0	0	2	0	1	0	5	3	5	2	5	3	2	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:404053G>A	ENST00000331563.2	+	11	2264	c.2188G>A	c.(2188-2190)Gtg>Atg	p.V730M		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	730				V -> G (in Ref. 3; BAD97231).	cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAACCTGGTGGTGGCCAGCCC	0.612													35	128					0	0	0	0	A	404053	G	A	404053	3	1	61	1	0	0	0	0	1	0	0	0	12058	1261	44	4	2230	4	PKP3	11	404053	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08		404053	134602463	285	12076											
MUC5B	727897	broad.mit.edu	37	chr11	1271606	1271606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaaagccactccctcctCcagtccagggactgcaactg	9	7	7	18	0	0	0	0	0	0	0	5	1	5	1	6	1	3	1	6	1	2	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:1271606C>A	ENST00000447027.1	+	31	13563	c.13505C>A	c.(13504-13506)tCc>tAc	p.S4502Y	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4499Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4499	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCTCCTCCAGTCCAGGG	0.642													77	119					3.71121e-27	5.30172e-27	1	0	A	1271606	C	A	1271606	3	1	61	1	0	0	0	0	1	0	0	0	10049	855	30	2	13627	2	MUC5B	11	1271606	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	867553	1271606	133734910	286	12077											
ART1	417	broad.mit.edu	37	chr11	3681086	3681086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacccctgggcttccgcgatGagcatggggtggccctcctg	4	8	14	15	2	0	1	0	1	0	0	2	2	2	1	5	4	1	2	5	4	0	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:3681086G>A	ENST00000250693.1	+	3	438	c.337G>A	c.(337-339)Gag>Aag	p.E113K		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	113					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CTTCCGCGATGAGCATGGGGT	0.682													14	40					0	0	0	0	A	3681086	G	A	3681086	3	1	61	1	0	0	0	0	1	0	0	0	1001	1291	45	2	343	2	ART1	11	3681086	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2409480	3681086	131325430	287	12078											
HBE1	3046	broad.mit.edu	37	chr11	5291131	5291131	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcaccatgatgccaggcCtgagagcttgctagtgattg	10	10	12	9	0	0	3	0	3	0	1	0	4	0	3	3	1	4	3	3	1	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:5291131C>A	ENST00000380237.1	-	0	334				HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_De_novo_Start_InFrame			P02100	HBE_HUMAN	hemoglobin, epsilon 1						blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGCCAGGCCTGAGAGCTTG	0.542													10	28					7.48243e-07	8.2663e-07	1	0	A	5291131	C	A	5291131	1	1	61	1	0	0	0	0	0	0	0	0	7030	696	24	4		4	HBE1	11	5291131	Translation_Start_Site	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1610045	5291131	129715385	288	12079											
OR52W1	120787	broad.mit.edu	37	chr11	6220867	6220867	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtccactgcactacccTgtcctggtcaccaaagcctg	7	8	10	16	1	1	0	1	0	0	0	3	0	3	0	5	2	3	1	5	2	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:6220867T>A	ENST00000311352.2	+	1	492	c.414T>A	c.(412-414)ccT>ccA	p.P138P		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCACTACCCTGTCCTGGTCA	0.537													13	75					0	0	0	0	A	6220867	T	A	6220867	2	1	61	1	0	0	0	0	0	0	0	1	11203	1567	55	5		5	OR52W1	11	6220867	Silent	SNP	T	TCGA-CN-4727-01A-01D-1434-08	929736	6220867	128785649	289	12080											
DCHS1	8642	broad.mit.edu	37	chr11	6661920	6661920	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagccccgtgtgtgCgtcgatggagaagggtccat	7	8	15	11	3	0	1	0	0	0	1	2	3	1	1	3	2	4	2	3	2	1	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:6661920C>G	ENST00000299441.3	-	2	1336	c.925G>C	c.(925-927)Gca>Cca	p.A309P		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCGTGTGTGCGTCGATGGAG	0.607													38	81					0	0	0	0	G	6661920	C	G	6661920	3	3	61	1	0	0	0	0	1	0	0	0	4319	768	27	3	9051	3	DCHS1	11	6661920	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	441053	6661920	128344596	290	12081											
OR2AG2	338755	broad.mit.edu	37	chr11	6789752	6789752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgccaggatccaggatgtgGccaccatgatccagcagact	11	7	11	12	0	0	2	0	1	0	1	2	4	2	4	5	3	2	1	5	3	0	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:6789752G>T	ENST00000338569.2	-	1	534	c.437C>A	c.(436-438)gCc>gAc	p.A146D		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAGGATGTGGCCACCATGAT	0.507													42	58					6.07928e-31	8.83704e-31	1	0	T	6789752	G	T	6789752	3	4	61	1	0	0	0	0	1	0	0	0	11056	1203	42	4	517	4	OR2AG2	11	6789752	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	127832	6789752	128216764	291	12082											
PTH	5741	broad.mit.edu	37	chr11	13513984	13513984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttagttaatacattcaCatcagctttgtctgcctctc	9	16	5	11	0	4	0	2	0	2	0	5	0	4	0	1	0	4	3	1	0	3	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:13513984C>T	ENST00000282091.1	-	3	430	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	PTH_ENST00000529816.1_Missense_Mutation_p.V106M	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	106					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		AATACATTCACATCAGCTTTG	0.428													14	81					0	0	0	0	T	13513984	C	T	13513984	3	4	61	1	0	0	0	0	1	0	0	0	12837	478	17	4	35	4	PTH	11	13513984	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	6724232	13513984	121492532	292	12083											
SOX6	55553	broad.mit.edu	37	chr11	16071443	16071443	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacaggctctgctgtcttGggtcgggatgagagattcag	7	13	14	7	1	3	2	1	1	2	1	4	4	3	3	0	3	2	2	0	3	1	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:16071443G>C	ENST00000352083.6	-	11	1370	c.1293C>G	c.(1291-1293)ccC>ccG	p.P431P	SOX6_ENST00000396356.3_Silent_p.P431P|SOX6_ENST00000527619.1_Silent_p.P393P|SOX6_ENST00000528252.1_Silent_p.P390P|SOX6_ENST00000528429.1_Silent_p.P431P|SOX6_ENST00000316399.6_Silent_p.P431P			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	431					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTGCTGTCTTGGGTCGGGATG	0.463													156	299					0	0	0	0	C	16071443	G	C	16071443	2	2	61	1	0	0	0	0	0	0	0	1	15043	1335	47	4		4	SOX6	11	16071443	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2557459	16071443	118935073	293	12084											
SLC6A5	9152	broad.mit.edu	37	chr11	20673942	20673942	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaatgctcgcctgttccgtCatctggatcccaattatgtt	7	15	7	12	2	2	0	1	0	1	0	5	1	4	1	3	1	1	3	3	1	3	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:20673942C>T	ENST00000525748.1	+	15	2451	c.2178C>T	c.(2176-2178)gtC>gtT	p.V726V	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	726					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCTGTTCCGTCATCTGGATCC	0.473													49	267					0	0	0	0	T	20673942	C	T	20673942	2	4	61	1	0	0	0	0	0	0	0	1	14775	813	29	2		2	SLC6A5	11	20673942	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	4602499	20673942	114332574	294	12085											
SLC17A6	57084	broad.mit.edu	37	chr11	22387106	22387106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaggaagctttggaatGgtctggtacatgttttggct	7	15	13	6	0	1	0	0	0	1	0	1	2	1	2	0	5	3	5	0	5	3	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:22387106G>T	ENST00000263160.3	+	7	1199	c.762G>T	c.(760-762)atG>atT	p.M254I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	254					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GCTTTGGAATGGTCTGGTACA	0.398													40	130					4.92203e-23	6.84598e-23	1	0	T	22387106	G	T	22387106	3	4	61	1	0	0	0	0	1	0	0	0	14509	1348	47	4	788	4	SLC17A6	11	22387106	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1713164	22387106	112619410	295	12086											
SLC17A6	57084	broad.mit.edu	37	chr11	22397537	22397537	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctgaaggttttggcaTggaagccacactgctcctgg	7	12	12	10	0	1	1	0	1	1	0	2	2	2	2	2	4	3	4	2	4	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:22397537T>G	ENST00000263160.3	+	10	1621	c.1184T>G	c.(1183-1185)aTg>aGg	p.M395R		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	395					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGTTTTGGCATGGAAGCCACA	0.393													52	90					0	0	0	0	G	22397537	T	G	22397537	3	3	61	1	0	0	0	0	1	0	0	0	14509	1464	51	5	1222	5	SLC17A6	11	22397537	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	10431	22397537	112608979	296	12087											
BDNF	627	broad.mit.edu	37	chr11	27679629	27679629	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggactgtgaccgtcccGcccgacatgtccactgcagt	8	8	10	15	3	1	1	1	1	0	0	3	3	3	2	4	1	1	1	4	1	1	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:27679629G>T	ENST00000525528.1	-	1	1576	c.483C>A	c.(481-483)ggC>ggA	p.G161G	BDNF_ENST00000314915.6_Silent_p.G169G|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395986.2_Silent_p.G176G|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000439476.2_Silent_p.G161G|BDNF_ENST00000356660.4_Silent_p.G161G|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000395983.3_Silent_p.G161G|BDNF_ENST00000420794.1_Silent_p.G161G|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000418212.1_Silent_p.G161G|BDNF_ENST00000395981.3_Silent_p.G161G|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000533246.1_Silent_p.G161G|BDNF_ENST00000533131.1_Silent_p.G161G|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000525950.1_Silent_p.G161G|BDNF_ENST00000532997.1_Silent_p.G161G|BDNF_ENST00000530861.1_Silent_p.G161G|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000395980.2_Silent_p.G161G|BDNF_ENST00000395978.3_Silent_p.G161G|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000438929.1_Silent_p.G243G	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	161						extracellular region	growth factor activity	p.G169G(1)		breast(1)|large_intestine(3)|lung(2)	6						TGACCGTCCCGCCCGACATGT	0.532													4	238					1	1	1	0	T	27679629	G	T	27679629	2	4	61	1	0	0	0	0	0	0	0	1	1398	1074	38	3		3	BDNF	11	27679629	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	5282092	27679629	107326887	297	12088											
DCDC1	341019	broad.mit.edu	37	chr11	31327905	31327905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgccaattccgggctgaCtgaaattttaaagaagagaa	14	11	9	7	1	1	4	0	2	1	2	2	5	2	4	2	1	1	1	2	1	6	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:31327905C>A	ENST00000597505.1	-	3	464	c.465G>T	c.(463-465)caG>caT	p.Q155H	DCDC1_ENST00000452803.1_Missense_Mutation_p.Q155H|RP1-296L11.1_ENST00000528872.1_RNA			P59894	DCDC1_HUMAN	doublecortin domain containing 1	155					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCCGGGCTGACTGAAATTTTA	0.333													14	46					1.49906e-05	1.62515e-05	1	0	A	31327905	C	A	31327905	3	1	61	1	0	0	0	0	1	0	0	0	4316	564	20	4	619	4	DCDC1	11	31327905	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	3648276	31327905	103678611	298	12089											
OR5I1	10798	broad.mit.edu	37	chr11	55703542	55703542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggccaggatgaaggattctGtatctgcaaaagtacagaaa	15	8	11	7	1	2	2	0	1	2	1	2	4	2	4	1	3	2	3	1	3	6	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:55703542G>T	ENST00000301532.3	-	1	334	c.335C>A	c.(334-336)aCa>aAa	p.T112K		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GAAGGATTCTGTATCTGCAAA	0.438													33	26					3.90053e-15	4.9721e-15	1	0	T	55703542	G	T	55703542	3	4	61	1	0	0	0	0	1	0	0	0	11235	1377	48	4	612	4	OR5I1	11	55703542	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	24375637	55703542	79302974	299	12090											
OR5J2	282775	broad.mit.edu	37	chr11	55944458	55944458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagtgatggcctatgaccGctatgtggccattgtgagtc	7	12	13	9	1	1	3	1	3	0	0	2	3	1	3	3	2	0	1	3	2	2	3	rs151315491		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:55944458G>T	ENST00000312298.1	+	1	365	c.365G>T	c.(364-366)cGc>cTc	p.R122L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCCTATGACCGCTATGTGGCC	0.453													71	68					1.55545e-33	2.28395e-33	1	0	T	55944458	G	T	55944458	3	4	61	1	0	0	0	0	1	0	0	0	11236	1087	38	3	367	3	OR5J2	11	55944458	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	240916	55944458	79062058	300	12091											
OR5T1	390155	broad.mit.edu	37	chr11	56043301	56043301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctggttgtaccgatcattGgggatttctggcttcacagc	6	13	13	9	1	3	0	2	0	1	0	3	2	3	1	1	5	2	4	1	5	1	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:56043301G>T	ENST00000313033.2	+	1	273	c.187G>T	c.(187-189)Ggg>Tgg	p.G63W		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ACCGATCATTGGGGATTTCTG	0.363													23	74					1.50039e-11	1.81676e-11	1	0	T	56043301	G	T	56043301	3	4	61	1	0	0	0	0	1	0	0	0	11252	1348	47	4	189	4	OR5T1	11	56043301	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	98843	56043301	78963215	301	12092											
OR5M3	219482	broad.mit.edu	37	chr11	56237387	56237387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccggcaagtatgatcattGtatattcttttacaaaggtc	11	15	8	7	1	2	1	1	1	1	0	3	1	2	1	1	2	2	3	1	2	6	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:56237387G>A	ENST00000312240.2	-	1	627	c.587C>T	c.(586-588)aCa>aTa	p.T196I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TATGATCATTGTATATTCTTT	0.408													91	84					0	0	0	0	A	56237387	G	A	56237387	3	1	61	1	0	0	0	0	1	0	0	0	11246	1377	48	4	338	4	OR5M3	11	56237387	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	194086	56237387	78769129	302	12093											
OR10Q1	219960	broad.mit.edu	37	chr11	57995542	57995542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcatcctctgaggtgctgGaccgaggacgcaggtacacg	8	7	13	13	3	2	1	1	1	1	0	3	4	3	3	3	4	2	3	3	4	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:57995542G>T	ENST00000316770.2	-	1	848	c.806C>A	c.(805-807)tCc>tAc	p.S269Y		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGAGGTGCTGGACCGAGGACG	0.602													26	31					4.72057e-08	5.37904e-08	1	0	T	57995542	G	T	57995542	3	4	61	1	0	0	0	0	1	0	0	0	10987	1174	41	2	157	2	OR10Q1	11	57995542	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1758155	57995542	77010974	303	12094											
C11orf48	79081	broad.mit.edu	37	chr11	62437249	62437249	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggattccaccacaatagaCggcagatgggacttttgaga	12	9	11	9	1	0	3	0	1	0	3	1	6	1	5	2	3	0	1	2	3	2	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:62437249C>G	ENST00000431002.2	-	1	1988	c.255G>C	c.(253-255)ccG>ccC	p.P85P	C11orf48_ENST00000532208.1_Silent_p.P59P|C11orf48_ENST00000354588.3_Silent_p.P59P			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	85										endometrium(1)|lung(5)|urinary_tract(1)	7						CCACAATAGACGGCAGATGGG	0.537													41	161					0	0	0	0	G	62437249	C	G	62437249	2	3	61	1	0	0	0	0	0	0	0	1	1655	523	19	3		3	C11orf48	11	62437249	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	4441707	62437249	72569267	304	12095											
SLC22A6	9356	broad.mit.edu	37	chr11	62751493	62751493	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactgggccagctggcgtagGgccctgtgagagcacacaag	9	5	16	11	1	0	1	0	1	0	1	0	3	0	1	2	3	2	3	2	3	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:62751493G>A	ENST00000377871.3	-	2	662	c.396C>T	c.(394-396)gcC>gcT	p.A132A	SLC22A6_ENST00000421062.2_Silent_p.A132A|SLC22A6_ENST00000360421.4_Silent_p.A132A|SLC22A6_ENST00000458333.2_Silent_p.A132A	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	132					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCTGGCGTAGGGCCCTGTGAG	0.617													19	18					0	0	0	0	A	62751493	G	A	62751493	2	1	61	1	0	0	0	0	0	0	0	1	14546	1219	43	4		4	SLC22A6	11	62751493	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	314244	62751493	72255023	305	12096											
SHANK2	22941	broad.mit.edu	37	chr11	70505947	70505947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctacctcaatcaagaagtCcccggtccttagtccggctt	8	10	7	16	2	2	1	2	0	0	1	5	1	5	1	6	2	1	1	6	2	5	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:70505947C>A	ENST00000338508.4	-	23	2049	c.2050G>T	c.(2050-2052)Gac>Tac	p.D684Y	SHANK2_ENST00000449833.2_Missense_Mutation_p.D95Y|SHANK2_ENST00000449116.2_Missense_Mutation_p.D95Y|SHANK2_ENST00000423696.2_Missense_Mutation_p.D304Y|SHANK2_ENST00000409530.1_Missense_Mutation_p.D94Y|SHANK2_ENST00000409161.1_Missense_Mutation_p.D94Y|SHANK2_ENST00000357171.3_Missense_Mutation_p.D95Y			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	304					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATCAAGAAGTCCCCGGTCCTT	0.587													8	35					7.48243e-07	8.2663e-07	1	0	A	70505947	C	A	70505947	3	1	61	1	0	0	0	0	1	0	0	0	14353	855	30	2	3542	2	SHANK2	11	70505947	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	7754454	70505947	64500569	306	12097											
INPPL1	3636	broad.mit.edu	37	chr11	71942179	71942179	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagtgggcgaccgcgagtgGctggacctactgcgcggggg	5	6	19	11	5	1	0	1	0	0	0	1	3	1	1	2	5	2	1	2	5	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:71942179G>A	ENST00000298229.2	+	12	1647	c.1443G>A	c.(1441-1443)tgG>tgA	p.W481*	INPPL1_ENST00000538751.1_Nonsense_Mutation_p.W239*|INPPL1_ENST00000541756.1_Nonsense_Mutation_p.W239*	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	481					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCGCGAGTGGCTGGACCTAC	0.617													158	263					0	0	0	0	A	71942179	G	A	71942179	4	1	61	1	0	0	0	0	0	1	0	0	7814	1212	42	4	1489	4	INPPL1	11	71942179	Nonsense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1436232	71942179	63064337	307	12098											
DLG2	1740	broad.mit.edu	37	chr11	84996411	84996411	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataaaattcttggatatcTgtaaagaaaatgtaaggaaa	19	12	7	3	0	3	1	1	0	2	1	3	3	3	3	0	2	0	2	0	2	9	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:84996411T>A	ENST00000376104.2	-	4	352		c.e4-2		DLG2_ENST00000543673.1_Splice_Site	NM_001142699.1	NP_001136171.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTTGGATATCTGTAAAGAAAA	0.313													25	77					0	0	0	0	A	84996411	T	A	84996411	5	1	61	1	0	0	0	0	0	0	1	0	4592	1594	55	5	3193	5	DLG2	11	84996411	Splice_Site	SNP	T	TCGA-CN-4727-01A-01D-1434-08	13054232	84996411	50010105	308	12099											
SYTL2	54843	broad.mit.edu	37	chr11	85436114	85436114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaataaaaatccttcctGtctggaactatggtgtccat	12	12	9	8	0	1	0	0	0	1	0	4	3	4	2	3	3	1	0	3	3	6	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:85436114G>T	ENST00000359152.5	-	1	2957	c.2958C>A	c.(2956-2958)gaC>gaA	p.D986E	SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.D462E|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.D462E|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AATCCTTCCTGTCTGGAACTA	0.448													48	56					7.88023e-25	1.11749e-24	1	0	T	85436114	G	T	85436114	3	4	61	1	0	0	0	0	1	0	0	0	15574	1368	48	4	2484	4	SYTL2	11	85436114	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	439703	85436114	49570402	309	12100											
FAT3	120114	broad.mit.edu	37	chr11	92498219	92498219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaggggtggtgtctgtgCagccagctaacacccctctg	6	11	13	11	0	2	0	0	0	2	0	2	0	2	0	3	3	4	3	3	3	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:92498219C>A	ENST00000298047.6	+	5	4176	c.4159C>A	c.(4159-4161)Cag>Aag	p.Q1387K	FAT3_ENST00000409404.2_Missense_Mutation_p.Q1387K|FAT3_ENST00000525166.1_Missense_Mutation_p.Q1237K|RP11-203F8.1_ENST00000529884.1_RNA			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1387	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGTGTCTGTGCAGCCAGCTAA	0.433										TCGA Ovarian(4;0.039)			8	27					0.00307968	0.00323004	1	0	A	92498219	C	A	92498219	3	1	61	1	0	0	0	0	1	0	0	0	5736	711	25	4	4177	4	FAT3	11	92498219	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	7062105	92498219	42508297	310	12101											
IGSF9B	22997	broad.mit.edu	37	chr11	133790286	133790286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcggggggcgctgggacagGgcccctgccgggcgacttgc	3	4	21	13	4	0	0	0	0	0	0	0	2	0	1	3	7	2	1	3	7	0	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:133790286G>A	ENST00000321016.8	-	18	3564	c.3334C>T	c.(3334-3336)Cct>Tct	p.P1112S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P1112S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1112	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTGGGACAGGGCCCCTGCCG	0.682													5	59					0	0	0	0	A	133790286	G	A	133790286	3	1	61	1	0	0	0	0	1	0	0	0	7659	1232	43	4	723	4	IGSF9B	11	133790286	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	41292067	133790286	1216230	311	12102											
CACNA2D4	93589	broad.mit.edu	37	chr12	1995443	1995443	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccaagatggtggtgatGgtgtgcttggcaatagtcat	8	13	15	5	0	1	2	1	1	0	1	2	2	2	2	1	4	1	2	1	4	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:1995443G>T	ENST00000382722.5	-	8	1301	c.939C>A	c.(937-939)acC>acA	p.T313T	CACNA2D4_ENST00000585708.1_Silent_p.T249T|CACNA2D4_ENST00000588077.1_Silent_p.T249T|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Silent_p.T313T|CACNA2D4_ENST00000586184.1_Silent_p.T313T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	313	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGGTGGTGATGGTGTGCTTGG	0.473													11	79					7.03913e-09	8.13286e-09	1	0	T	1995443	G	T	1995443	2	4	61	1	0	0	0	0	0	0	0	1	2576	1335	47	4		4	CACNA2D4	12	1995443	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08		1995443	131856452	312	12103											
VAMP1	6843	broad.mit.edu	37	chr12	6575058	6575058	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcttggcagcactgctctCaaattgtgatgctcctgcct	7	13	9	12	0	1	1	1	1	1	0	3	1	2	1	2	1	5	5	2	1	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:6575058C>A	ENST00000361716.3	-	3	693	c.238G>T	c.(238-240)Gag>Tag	p.E80*	VAMP1_ENST00000400911.3_Nonsense_Mutation_p.E80*|TAPBPL_ENST00000545700.1_3'UTR|VAMP1_ENST00000535180.1_Nonsense_Mutation_p.E80*|VAMP1_ENST00000544432.1_5'UTR|VAMP1_ENST00000396308.3_Nonsense_Mutation_p.E80*			P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	80	v-SNARE coiled-coil homology.				neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding	p.E80*(1)		endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	GCACTGCTCTCAAATTGTGAT	0.512											OREG0021627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	106					1	1	1	0	A	6575058	C	A	6575058	4	1	61	1	0	0	0	0	0	1	0	0	17208	835	29	2	159	2	VAMP1	12	6575058	Nonsense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	4579615	6575058	127276837	313	12104											
CHD4	1108	broad.mit.edu	37	chr12	6690915	6690915	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggctgggacatcttcttGttttcctccacctcagccag	5	13	8	15	0	3	0	1	0	2	0	5	1	5	1	5	2	1	2	5	2	0	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:6690915G>C	ENST00000309577.6	-	30	4828	c.4665C>G	c.(4663-4665)aaC>aaG	p.N1555K	CHD4_ENST00000357008.2_Missense_Mutation_p.N1527K|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Missense_Mutation_p.N1552K|CHD4_ENST00000544040.1_Missense_Mutation_p.N1520K			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1527					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACATCTTCTTGTTTTCCTCCA	0.547													54	193					0	0	0	0	C	6690915	G	C	6690915	3	2	61	1	0	0	0	0	1	0	0	0	3356	1368	48	4	1197	4	CHD4	12	6690915	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	115857	6690915	127160980	314	12105											
LRRC23	10233	broad.mit.edu	37	chr12	7016479	7016479	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgaaaccctcctccccagGgaacagcatccacatggtga	11	7	8	15	0	0	2	0	2	0	0	3	3	3	3	5	2	3	1	5	2	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:7016479G>A	ENST00000007969.8	+	5	711	c.490_splice	c.e5-1	p.G164_splice	LRRC23_ENST00000436789.1_Splice_Site_p.G164_splice|LRRC23_ENST00000323702.5_Splice_Site_p.G164_splice|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000433346.1_Splice_Site_p.G164_splice|LRRC23_ENST00000443597.2_Splice_Site_p.G164_splice	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	164										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TCCTCCCCAGGGAACAGCATC	0.547													118	187					0	0	0	0	A	7016479	G	A	7016479	5	1	61	1	0	0	0	0	0	0	1	0	9042	1246	43	4	505	4	LRRC23	12	7016479	Splice_Site	SNP	G	TCGA-CN-4727-01A-01D-1434-08	325564	7016479	126835416	315	12106											
PDE3A	5139	broad.mit.edu	37	chr12	20769239	20769239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccacctcggccacaGgtctacccaccttggagcct	8	6	7	20	1	1	0	0	0	1	0	2	1	1	1	8	3	2	0	8	3	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:20769239G>T	ENST00000359062.3	+	4	1385	c.1345G>T	c.(1345-1347)Ggt>Tgt	p.G449C	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	449					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTCGGCCACAGGTCTACCCAC	0.562													73	102					5.02462e-34	7.43439e-34	1	0	T	20769239	G	T	20769239	3	4	61	1	0	0	0	0	1	0	0	0	11708	1000	35	4	1359	4	PDE3A	12	20769239	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	13752760	20769239	113082656	316	12107											
SLCO1B1	10599	broad.mit.edu	37	chr12	21375295	21375295	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaatggttatacgagcaCtaggtatgatgaaaaaaaaa	19	9	8	5	1	1	2	1	2	0	0	1	3	1	2	0	2	2	3	0	2	9	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:21375295C>T	ENST00000256958.2	+	13	1840	c.1744C>T	c.(1744-1746)Cta>Tta	p.L582L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	582					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TATACGAGCACTAGGTATGAT	0.234													22	69					0	0	0	0	T	21375295	C	T	21375295	2	4	61	1	0	0	0	0	0	0	0	1	14811	564	20	4		4	SLCO1B1	12	21375295	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	606056	21375295	112476600	317	12108											
CAPRIN2	65981	broad.mit.edu	37	chr12	30883198	30883198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggttgtatctctggctggGcaaattccattagagactct	8	14	11	8	0	2	1	0	0	2	1	4	2	3	1	1	3	0	4	1	3	3	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:30883198G>A	ENST00000251071.5	-	7	1829	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A360V|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.A360V|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A360V|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.A27V	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	360					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTCTGGCTGGGCAAATTCCAT	0.363													6	544					0	0	0	0	A	30883198	G	A	30883198	3	1	61	1	0	0	0	0	1	0	0	0	2661	1203	42	4	2352	4	CAPRIN2	12	30883198	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	9507903	30883198	102968697	318	12109											
MCRS1	10445	broad.mit.edu	37	chr12	49952509	49952509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacgaatcgcaggctggCgatctgggtgggagacaaag	12	5	17	7	3	1	2	0	0	1	2	2	6	1	2	0	4	0	2	0	4	3	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:49952509C>T	ENST00000550165.1	-	16	1572	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T	MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000546244.1_Missense_Mutation_p.A245T|MCRS1_ENST00000357123.4_Missense_Mutation_p.A449T|MCRS1_ENST00000343810.4_Missense_Mutation_p.A436T			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	436					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CGCAGGCTGGCGATCTGGGTG	0.577													41	79					0	0	0	0	T	49952509	C	T	49952509	3	4	61	1	0	0	0	0	1	0	0	0	9468	768	27	1	86	1	MCRS1	12	49952509	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	19069311	49952509	83899386	319	12110											
KRT2	3849	broad.mit.edu	37	chr12	53045402	53045402	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgctcacgctcttgggcCttcacattctggatctctgg	5	14	9	13	1	6	0	2	0	4	0	7	1	6	1	1	3	1	2	1	3	0	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:53045402C>T	ENST00000309680.3	-	1	546	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	175	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GCTCTTGGGCCTTCACATTCT	0.532													62	156					0	0	0	0	T	53045402	C	T	53045402	2	4	61	1	0	0	0	0	0	0	0	1	8509	680	24	4		4	KRT2	12	53045402	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	3092893	53045402	80806493	320	12111											
KIF5A	3798	broad.mit.edu	37	chr12	57974825	57974825	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgagagagttaaggccctGgagggtgcactgaaggaggc	10	6	18	7	0	0	3	0	2	0	1	0	6	0	5	1	5	1	3	1	5	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:57974825G>A	ENST00000455537.2	+	24	2899	c.2625G>A	c.(2623-2625)ctG>ctA	p.L875L	KIF5A_ENST00000286452.5_Silent_p.L786L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	875					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TTAAGGCCCTGGAGGGTGCAC	0.572													19	49					0	0	0	0	A	57974825	G	A	57974825	2	1	61	1	0	0	0	0	0	0	0	1	8356	1335	47	4		4	KIF5A	12	57974825	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	4929423	57974825	75877070	321	12112											
AVPR1A	552	broad.mit.edu	37	chr12	63544528	63544528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgagggcttcggcctccCggcttgtgttgccagcgccg	2	8	14	17	5	0	0	0	0	0	0	2	1	1	0	6	3	2	3	6	3	0	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:63544528C>G	ENST00000299178.2	-	1	194	c.89G>C	c.(88-90)cGg>cCg	p.R30P		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	30					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTCGGCCTCCCGGCTTGTGTT	0.706													23	91					0	0	0	0	G	63544528	C	G	63544528	3	3	61	1	0	0	0	0	1	0	0	0	1235	652	23	3	1175	3	AVPR1A	12	63544528	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	5569703	63544528	70307367	322	12113											
ZDHHC17	23390	broad.mit.edu	37	chr12	77216208	77216208	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatcagcgcttgatttggCaaaacagagaaaaaatgtgt	16	9	10	6	2	1	2	1	1	0	1	1	4	1	2	0	1	2	2	0	1	6	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:77216208C>A	ENST00000426126.2	+	8	1443	c.794C>A	c.(793-795)gCa>gAa	p.A265E	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.A265E	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	265					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CTTGATTTGGCAAAACAGAGA	0.363													19	46					1.9806e-07	2.23492e-07	1	0	A	77216208	C	A	77216208	3	1	61	1	0	0	0	0	1	0	0	0	17702	710	25	4	824	4	ZDHHC17	12	77216208	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	13671680	77216208	56635687	323	12114											
NAV3	89795	broad.mit.edu	37	chr12	78444924	78444924	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggactgatgacatcaacaGtgggtaagtaaccctgttct	12	10	10	9	0	2	2	1	2	1	0	2	3	2	3	1	2	2	3	1	2	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:78444924G>C	ENST00000397909.2	+	11	2686	c.2513G>C	c.(2512-2514)aGt>aCt	p.S838T	NAV3_ENST00000536525.2_Missense_Mutation_p.S838T|NAV3_ENST00000228327.6_Missense_Mutation_p.S838T|NAV3_ENST00000266692.7_Missense_Mutation_p.S838T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	838						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GACATCAACAGTGGGTAAGTA	0.453										HNSCC(70;0.22)			32	66					0	0	0	0	C	78444924	G	C	78444924	3	2	61	1	0	0	0	0	1	0	0	0	10255	1029	36	4	2555	4	NAV3	12	78444924	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1228716	78444924	55406971	324	12115											
ACSS3	79611	broad.mit.edu	37	chr12	81610681	81610681	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacatttctttttccagaGactggatctccaattactgc	11	15	5	10	0	2	1	0	0	2	1	4	3	3	2	2	1	3	0	2	1	3	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:81610681G>T	ENST00000548058.1	+	10	2266	c.1354_splice	c.e10-1	p.E452_splice	ACSS3_ENST00000261206.3_Splice_Site_p.E451_splice|ACSS3_ENST00000548324.1_Splice_Site_p.E134_splice			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	452						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTTTTCCAGAGACTGGATCTC	0.408													20	92					8.04996e-18	1.07333e-17	1	0	T	81610681	G	T	81610681	5	4	61	1	0	0	0	0	0	0	1	0	190	956	33	2	1394	2	ACSS3	12	81610681	Splice_Site	SNP	G	TCGA-CN-4727-01A-01D-1434-08	3165757	81610681	52241214	325	12116											
PPFIA2	8499	broad.mit.edu	37	chr12	81839439	81839439	+	Frame_Shift_Del	DEL	C	C	-																															ctgggcttgccgttttaccaCcgtcattcttagtgatcttt																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:81839439delC	ENST00000550584.2	-	5	761	c.466delG	c.(466-468)tgfs	p.V157fs	PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000548586.1_Frame_Shift_Del_p.V157fs|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000552948.1_Frame_Shift_Del_p.V157fs|PPFIA2_ENST00000407050.4_Frame_Shift_Del_p.V83fs|PPFIA2_ENST00000550359.2_Frame_Shift_Del_p.V4fs|PPFIA2_ENST00000443686.3_Frame_Shift_Del_p.V83fs|PPFIA2_ENST00000549325.1_Frame_Shift_Del_p.V139fs|PPFIA2_ENST00000549396.1_Frame_Shift_Del_p.V157fs|PPFIA2_ENST00000333447.7_Frame_Shift_Del_p.V139fs	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	83										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CGTTTTACCACCGTCATTCTT	0.428													27	45	---	---	---	---					-	81839439	C	-	81839439	7	5	61	1	0	1	0	1	0	0	0	0	12381	507	18	0	3415	0	PPFIA2	12	81839439	Frame_Shift_Del	DEL	C	TCGA-CN-4727-01A-01D-1434-08	228758	81839439	52012456	326	12117											
MRPL42	28977	broad.mit.edu	37	chr12	93873224	93873224	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatgctaccacccttctgtGgacattccatatgaacacac	11	11	6	13	0	1	1	0	1	1	0	2	2	2	2	3	1	3	2	3	1	4	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:93873224G>C	ENST00000549982.1	+	4	356	c.195G>C	c.(193-195)gtG>gtC	p.V65V	MRPL42_ENST00000547098.1_Silent_p.V65V|MRPL42_ENST00000548545.1_Silent_p.V65V|MRPL42_ENST00000552217.1_Silent_p.V65V|MRPL42_ENST00000361630.2_Silent_p.V65V|MRPL42_ENST00000393128.4_Silent_p.V65V	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	65					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						ACCCTTCTGTGGACATTCCAT	0.328													33	68					0	0	0	0	C	93873224	G	C	93873224	2	2	61	1	0	0	0	0	0	0	0	1	9876	1335	47	4		4	MRPL42	12	93873224	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	12033785	93873224	39978671	327	12118											
SLC41A2	84102	broad.mit.edu	37	chr12	105260337	105260337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaaaatacaccaactaatgGagaaatgtagtaataggtct	19	9	8	5	0	1	1	0	0	1	1	1	3	1	1	1	2	2	2	1	2	9	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:105260337G>T	ENST00000258538.3	-	6	1175	c.1048C>A	c.(1048-1050)Cca>Aca	p.P350T		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	350						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						CCAACTAATGGAGAAATGTAG	0.343													40	71					4.92203e-23	6.84598e-23	1	0	T	105260337	G	T	105260337	3	4	61	1	0	0	0	0	1	0	0	0	14718	1174	41	2	693	2	SLC41A2	12	105260337	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	11387113	105260337	28591558	328	12119											
BTBD11	121551	broad.mit.edu	37	chr12	108051315	108051315	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcacagagctctcagcataTtgcgaaggctactttctcaa	11	11	8	11	1	3	1	3	0	2	1	5	2	3	1	0	1	4	3	0	1	4	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:108051315T>A	ENST00000280758.5	+	17	3663	c.3135T>A	c.(3133-3135)taT>taA	p.Y1045*	BTBD11_ENST00000494235.2_Nonsense_Mutation_p.Y124*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.Y926*|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.Y582*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1045						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCTCAGCATATTGCGAAGGCT	0.463													33	66					0	0	0	0	A	108051315	T	A	108051315	4	1	61	1	0	0	0	0	0	1	0	0	1547	1500	52	5	3306	5	BTBD11	12	108051315	Nonsense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	2790978	108051315	25800580	329	12120											
KSR2	283455	broad.mit.edu	37	chr12	118198938	118198938	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagggcggtggggtcccCgggggcttcagcttgttctt	3	10	19	9	2	2	0	1	0	1	0	3	2	3	1	2	7	1	3	2	7	0	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:118198938C>T	ENST00000425217.1	-	4	831	c.777G>A	c.(775-777)ccG>ccA	p.P259P	KSR2_ENST00000339824.5_Silent_p.P288P	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	288	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGGTCCCCGGGGGCTTCA	0.682													70	425					0	0	0	0	T	118198938	C	T	118198938	2	4	61	1	0	0	0	0	0	0	0	1	8635	639	23	1		1	KSR2	12	118198938	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	10147623	118198938	15652957	330	12121											
ACADS	35	broad.mit.edu	37	chr12	121175737	121175737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctggatcaccaatgcctgGgaggcttcggctgccgtggt	5	9	15	12	2	1	0	1	0	0	0	2	2	1	2	4	5	2	2	4	5	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:121175737G>C	ENST00000242592.4	+	5	721	c.570G>C	c.(568-570)tgG>tgC	p.W190C	ACADS_ENST00000411593.2_Intron	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	190						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CCAATGCCTGGGAGGCTTCGG	0.642													29	82					0	0	0	0	C	121175737	G	C	121175737	3	2	61	1	0	0	0	0	1	0	0	0	114	1241	43	4	588	4	ACADS	12	121175737	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2976799	121175737	12676158	331	12122											
PITPNM2	57605	broad.mit.edu	37	chr12	123494588	123494588	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcttctgtcttatactcgTtgtggggcacagggtctttg	4	16	11	10	1	4	0	0	0	4	0	5	0	4	0	1	3	1	2	1	3	2	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:123494588T>A	ENST00000280562.5	-	5	657	c.452A>T	c.(451-453)aAc>aTc	p.N151I	PITPNM2_ENST00000546049.1_Missense_Mutation_p.N151I|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.N151I|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.N151I			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	151					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CTTATACTCGTTGTGGGGCAC	0.557													91	197					0	0	0	0	A	123494588	T	A	123494588	3	1	61	1	0	0	0	0	1	0	0	0	12023	1725	60	5	3681	5	PITPNM2	12	123494588	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	2318851	123494588	10357307	332	12123											
TMEM132B	114795	broad.mit.edu	37	chr12	126138491	126138491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagagcgcgaaggaaaccaGgagagagcagtccaggaatg	16	3	15	7	2	0	2	0	0	0	2	1	7	1	5	2	3	3	1	2	3	4	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:126138491G>A	ENST00000299308.3	+	9	2480	c.2472G>A	c.(2470-2472)caG>caA	p.Q824Q	TMEM132B_ENST00000535886.1_Silent_p.Q336Q	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	824						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGGAAACCAGGAGAGAGCAG	0.502													32	111					0	0	0	0	A	126138491	G	A	126138491	2	1	61	1	0	0	0	0	0	0	0	1	16140	991	35	4		4	TMEM132B	12	126138491	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2643903	126138491	7713404	333	12124											
GOLGA3	2802	broad.mit.edu	37	chr12	133373162	133373162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggatgccgccgagtccGccatcctctgcagccgctcc	5	6	11	19	4	1	0	0	0	1	0	4	2	4	1	8	1	3	2	8	1	0	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:133373162G>A	ENST00000204726.3	-	10	2621	c.2063C>T	c.(2062-2064)gCg>gTg	p.A688V	GOLGA3_ENST00000450791.2_Missense_Mutation_p.A688V|GOLGA3_ENST00000545875.1_Missense_Mutation_p.A688V|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A688V|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A688V	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	688	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGCCGAGTCCGCCATCCTCTG	0.627													4	218					0	0	0	0	A	133373162	G	A	133373162	3	1	61	1	0	0	0	0	1	0	0	0	6605	1087	38	1	2631	1	GOLGA3	12	133373162	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	7234671	133373162	478733	334	12125											
TNFRSF19	55504	broad.mit.edu	37	chr13	24233278	24233278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgttatctgcagcgctctgGccaccgtcctgctggccctg	3	10	11	17	3	2	0	0	0	2	0	3	0	3	0	5	2	3	4	5	2	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:24233278G>A	ENST00000382263.3	+	6	719	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	TNFRSF19_ENST00000403372.2_Missense_Mutation_p.A47T|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.A179T|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.A179T	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	179					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CAGCGCTCTGGCCACCGTCCT	0.552													28	45					0	0	0	0	A	24233278	G	A	24233278	3	1	61	1	0	0	0	0	1	0	0	0	16386	1203	42	4	553	4	TNFRSF19	13	24233278	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08		24233278	90936600	335	12126											
ATP12A	479	broad.mit.edu	37	chr13	25262596	25262596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatcctcctgtgggtgggcgCctttctctgttggattgcat	3	16	12	10	1	1	0	0	0	1	0	4	1	3	1	3	3	1	2	3	3	1	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:25262596C>T	ENST00000218548.6	+	4	701	c.368C>T	c.(367-369)gCc>gTc	p.A123V	ATP12A_ENST00000381946.3_Missense_Mutation_p.A123V	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	123					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGGGTGGGCGCCTTTCTCTGT	0.572													241	406					0	0	0	0	T	25262596	C	T	25262596	3	4	61	1	0	0	0	0	1	0	0	0	1126	739	26	4	382	4	ATP12A	13	25262596	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1029318	25262596	89907282	336	12127											
NUPL1	9818	broad.mit.edu	37	chr13	25901160	25901160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaagcaaataattcacatAtaacccctcaaggtaacatg	17	9	4	11	0	3	0	3	0	0	0	3	0	3	0	2	1	3	2	2	1	7	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:25901160A>G	ENST00000463407.1	+	11	1281	c.1138A>G	c.(1138-1140)Ata>Gta	p.I380V	NUPL1_ENST00000381736.3_Missense_Mutation_p.I380V|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.I368V			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	380	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TAATTCACATATAACCCCTCA	0.363													35	126					0	0	0	0	G	25901160	A	G	25901160	3	3	61	1	0	0	0	0	1	0	0	0	10845	449	16	5	1180	5	NUPL1	13	25901160	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	638564	25901160	89268718	337	12128											
ATP8A2	51761	broad.mit.edu	37	chr13	26413696	26413696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccttaggttttctggggtCactgcatcaacgccttggtc	5	15	10	11	1	3	0	2	0	1	0	5	0	4	0	2	4	2	2	2	4	2	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:26413696C>T	ENST00000381655.2	+	30	3032	c.2890C>T	c.(2890-2892)Cac>Tac	p.H964Y	ATP8A2_ENST00000255283.8_Missense_Mutation_p.H899Y|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	924					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTTCTGGGGTCACTGCATCAA	0.498													26	202					0	0	0	0	T	26413696	C	T	26413696	3	4	61	1	0	0	0	0	1	0	0	0	1197	826	29	2	3008	2	ATP8A2	13	26413696	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	512536	26413696	88756182	338	12129											
KATNAL1	84056	broad.mit.edu	37	chr13	30784522	30784522	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatatcttccagttgaataTcaggatctaattcgacctca	12	14	5	10	1	4	1	2	1	2	0	6	3	5	2	2	1	0	1	2	1	5	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:30784522T>A	ENST00000380615.3	-	10	1372	c.1205A>T	c.(1204-1206)gAt>gTt	p.D402V	KATNAL1_ENST00000380617.3_Missense_Mutation_p.D402V	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	402						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CAGTTGAATATCAGGATCTAA	0.378													22	113					0	0	0	0	A	30784522	T	A	30784522	3	1	61	1	0	0	0	0	1	0	0	0	8038	1435	50	5	275	5	KATNAL1	13	30784522	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	4370826	30784522	84385356	339	12130											
USPL1	10208	broad.mit.edu	37	chr13	31233367	31233367	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgcctgcgttagaacattAaacttggagagtccgatgaa	14	10	10	7	2	0	3	0	1	0	2	1	5	1	3	2	1	4	1	2	1	6	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:31233367A>G	ENST00000255304.4	+	9	3495	c.3153A>G	c.(3151-3153)ttA>ttG	p.L1051L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1051					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTAGAACATTAAACTTGGAGA	0.398													29	120					0	0	0	0	G	31233367	A	G	31233367	2	3	61	1	0	0	0	0	0	0	0	1	17188	359	13	5		5	USPL1	13	31233367	Silent	SNP	A	TCGA-CN-4727-01A-01D-1434-08	448845	31233367	83936511	340	12131											
PDS5B	23047	broad.mit.edu	37	chr13	33344509	33344509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaagggtaaaagaggccGaccaccaaaacctcttggtg	17	5	10	9	1	1	1	0	0	1	1	1	2	1	1	4	3	1	1	4	3	7	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:33344509G>T	ENST00000315596.10	+	32	4061	c.3875G>T	c.(3874-3876)cGa>cTa	p.R1292L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1292					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAGAGGCCGACCACCAAAA	0.418													9	41					7.48243e-07	8.2663e-07	1	0	T	33344509	G	T	33344509	3	4	61	1	0	0	0	0	1	0	0	0	11763	1058	37	3	3997	3	PDS5B	13	33344509	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2111142	33344509	81825369	341	12132											
NBEA	26960	broad.mit.edu	37	chr13	35733576	35733576	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagagaatggtgcccttGtggaggttgaatctctgttg	7	13	16	5	0	1	2	0	1	1	1	2	5	1	4	1	4	1	2	1	4	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:35733576G>C	ENST00000540320.1	+	22	3802	c.3268G>C	c.(3268-3270)Gtg>Ctg	p.V1090L	NBEA_ENST00000310336.4_Missense_Mutation_p.V1090L|NBEA_ENST00000379939.2_Missense_Mutation_p.V1090L|NBEA_ENST00000400445.3_Missense_Mutation_p.V1090L			Q8NFP9	NBEA_HUMAN	neurobeachin	1090						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGTGCCCTTGTGGAGGTTGA	0.383													11	41					0	0	0	0	C	35733576	G	C	35733576	3	2	61	1	0	0	0	0	1	0	0	0	10257	1377	48	4	3354	4	NBEA	13	35733576	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2389067	35733576	79436302	342	12133											
MAB21L1	4081	broad.mit.edu	37	chr13	36049804	36049804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcggattctcagtttcaCttcgctggtgtctgccacca	6	14	8	13	2	4	0	2	0	3	0	7	1	4	1	2	2	1	2	2	2	0	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:36049804C>T	ENST00000379919.4	-	1	1028	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	158					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CTCAGTTTCACTTCGCTGGTG	0.572													35	56					0	0	0	0	T	36049804	C	T	36049804	3	4	61	1	0	0	0	0	1	0	0	0	9206	565	20	4	611	4	MAB21L1	13	36049804	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	316228	36049804	79120074	343	12134											
DCLK1	9201	broad.mit.edu	37	chr13	36700076	36700076	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatccctttgaagtatcGatctccgtttcgatagaaac	12	12	6	11	3	1	2	0	1	1	1	5	4	2	2	2	0	1	2	2	0	5	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:36700076G>T	ENST00000255448.4	-	2	410	c.199C>A	c.(199-201)Cga>Aga	p.R67R	DCLK1_ENST00000360631.3_Silent_p.R67R|DCLK1_ENST00000379892.4_Silent_p.R67R	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	67	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTGAAGTATCGATCTCCGTTT	0.547													29	124					8.58068e-18	1.13885e-17	1	0	T	36700076	G	T	36700076	2	4	61	1	0	0	0	0	0	0	0	1	4323	1066	37	3		3	DCLK1	13	36700076	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	650272	36700076	78469802	344	12135											
NEK5	341676	broad.mit.edu	37	chr13	52650229	52650229	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttctgttctggatttttActttcctttgtgttctgaag	5	23	7	6	0	3	1	0	1	3	0	4	2	4	2	1	1	1	2	1	1	3	9			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:52650229A>T	ENST00000355568.4	-	19	1837	c.1698T>A	c.(1696-1698)agT>agA	p.S566R		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	566							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTGGATTTTTACTTTCCTTTG	0.348													24	42					0	0	0	0	T	52650229	A	T	52650229	3	4	61	1	0	0	0	0	1	0	0	0	10397	388	14	5	444	5	NEK5	13	52650229	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	15950153	52650229	62519649	345	12136											
PCDH17	27253	broad.mit.edu	37	chr13	58208417	58208417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctagacgtgaatgacaaCgcgccagtgatcgtgctccc	9	8	12	12	4	0	4	0	3	0	1	2	4	1	4	2	0	3	2	2	0	3	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:58208417C>T	ENST00000377918.3	+	1	1763	c.1737C>T	c.(1735-1737)aaC>aaT	p.N579N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	579	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAATGACAACGCGCCAGTGA	0.642													11	69					0	0	0	0	T	58208417	C	T	58208417	2	4	61	1	0	0	0	0	0	0	0	1	11583	535	19	1		1	PCDH17	13	58208417	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	5558188	58208417	56961461	346	12137											
PCDH9	5101	broad.mit.edu	37	chr13	67799496	67799496	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatactggttgactgggcacTtgtatgcagtacttatagac	11	13	10	7	0	0	2	0	1	0	1	0	2	0	2	0	2	3	5	0	2	6	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:67799496T>G	ENST00000377861.3	-	2	3763	c.3077A>C	c.(3076-3078)aAg>aCg	p.K1026T	PCDH9_ENST00000456367.1_Intron|PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000377865.2_Intron|PCDH9_ENST00000544246.1_Intron			Q9HC56	PCDH9_HUMAN	protocadherin 9	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GACTGGGCACTTGTATGCAGT	0.428													23	98					0	0	0	0	G	67799496	T	G	67799496	3	3	61	1	0	0	0	0	1	0	0	0	11589	1624	56	5		5	PCDH9	13	67799496	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	9591079	67799496	47370382	347	12138											
EDNRB	1910	broad.mit.edu	37	chr13	78474768	78474768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaggaccaggcaaaagaCggttttggccacttcccgtc	11	7	11	12	2	0	1	0	0	0	1	2	3	1	2	3	4	0	2	3	4	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:78474768C>T	ENST00000377211.4	-	6	1395	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	EDNRB_ENST00000334286.5_Missense_Mutation_p.V325I|EDNRB_ENST00000446573.1_Missense_Mutation_p.V325I	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	325					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.V415I(1)|p.V325I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AGGCAAAAGACGGTTTTGGCC	0.418													16	81					0	0	0	0	T	78474768	C	T	78474768	3	4	61	1	0	0	0	0	1	0	0	0	4956	536	19	1	488	1	EDNRB	13	78474768	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	10675272	78474768	36695110	348	12139											
NALCN	259232	broad.mit.edu	37	chr13	101844272	101844272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgctgaactcaccagaGtggcaaaaagatgatagaga	19	6	10	6	0	1	5	1	2	0	3	1	6	1	5	1	1	2	2	1	1	6	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:101844272G>T	ENST00000251127.6	-	14	1841	c.1760C>A	c.(1759-1761)aCt>aAt	p.T587N	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.T587N	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	587						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTCACCAGAGTGGCAAAAAG	0.393													19	18					1.55795e-14	1.97726e-14	1	0	T	101844272	G	T	101844272	3	4	61	1	0	0	0	0	1	0	0	0	10218	1029	36	4	3580	4	NALCN	13	101844272	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	23369504	101844272	13325606	349	12140											
FAM155A	728215	broad.mit.edu	37	chr13	107862932	107862932	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcccacccggcactgtacCtgtacagatgaaactggaga	12	7	9	13	1	0	3	0	1	0	2	1	4	1	3	3	2	3	3	3	2	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:107862932C>T	ENST00000375915.2	-	2	1225	c.1087_splice	c.e2+1	p.G363_splice		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	363						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCACTGTACCTGTACAGATG	0.458													29	51					0	0	0	0	T	107862932	C	T	107862932	5	4	61	1	0	0	0	0	0	0	1	0	5506	695	24	4	297	4	FAM155A	13	107862932	Splice_Site	SNP	C	TCGA-CN-4727-01A-01D-1434-08	6018660	107862932	7306946	350	12141											
OR4M1	441670	broad.mit.edu	37	chr14	20248711	20248711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttggtactcttccattaCagcccctaaaatgctcatag	11	14	5	11	0	2	0	1	0	1	0	3	0	3	0	3	1	4	2	3	1	6	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:20248711C>A	ENST00000315957.4	+	1	311	c.230C>A	c.(229-231)aCa>aAa	p.T77K		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTCCATTACAGCCCCTAAA	0.438													212	610					2.46165e-77	3.8588e-77	1	0	A	20248711	C	A	20248711	3	1	61	1	0	0	0	0	1	0	0	0	11146	478	17	4	232	4	OR4M1	14	20248711	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08		20248711	87100829	351	12142											
OR4K2	390431	broad.mit.edu	37	chr14	20344521	20344521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttttctttatggtgttttCattgctttatgtggcaacaa	7	21	8	5	0	2	0	1	0	1	0	2	0	2	0	0	2	2	4	0	2	4	9			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:20344521C>T	ENST00000298642.2	+	1	131	c.95C>T	c.(94-96)tCa>tTa	p.S32L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	32					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)		ATGGTGTTTTCATTGCTTTAT	0.413													188	525					0	0	0	0	T	20344521	C	T	20344521	3	4	61	1	0	0	0	0	1	0	0	0	11143	838	29	2	97	2	OR4K2	14	20344521	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	95810	20344521	87005019	352	12143											
TMEM55B	90809	broad.mit.edu	37	chr14	20928404	20928404	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactttgcagataaggagAcagttacaggggcatcgaac	13	8	12	8	1	1	2	1	0	0	2	2	4	1	2	0	3	3	3	0	3	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:20928404A>T	ENST00000250489.4	-	3	673	c.387T>A	c.(385-387)tgT>tgA	p.C129*	TMEM55B_ENST00000554028.1_5'UTR|TMEM55B_ENST00000398020.4_Nonsense_Mutation_p.C136*			Q86T03	TM55B_HUMAN	transmembrane protein 55B	129						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		AGATAAGGAGACAGTTACAGG	0.493													10	89					0	0	0	0	T	20928404	A	T	20928404	4	4	61	1	0	0	0	0	0	1	0	0	16276	273	10	5	466	5	TMEM55B	14	20928404	Nonsense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	583883	20928404	86421136	353	12144											
SUPT16H	11198	broad.mit.edu	37	chr14	21831310	21831310	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcagtcatttcattcTggtgaatggaaaatccaatt	11	15	7	8	0	4	1	2	1	2	0	5	2	5	2	1	2	1	1	1	2	4	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:21831310T>G	ENST00000216297.2	-	13	1734		c.e13-2			NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)						DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CATTTCATTCTGGTGAATGGA	0.388													39	163					0	0	0	0	G	21831310	T	G	21831310	5	3	61	1	0	0	0	0	0	0	1	0	15486	1594	55	5	1805	5	SUPT16H	14	21831310	Splice_Site	SNP	T	TCGA-CN-4727-01A-01D-1434-08	902906	21831310	85518230	354	12145											
C14orf119	55017	broad.mit.edu	37	chr14	23567116	23567116	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagcagcttagtgtgtcTggggcagaccgaccaccttc	7	9	13	12	1	1	1	0	0	1	1	2	3	1	2	3	3	2	3	3	3	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:23567116T>C	ENST00000319074.4	+	2	1105	c.249T>C	c.(247-249)tcT>tcC	p.S83S	C14orf119_ENST00000554203.1_Silent_p.S83S	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN	chromosome 14 open reading frame 119	83										central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		TTAGTGTGTCTGGGGCAGACC	0.527													41	167					0	0	0	0	C	23567116	T	C	23567116	2	2	61	1	0	0	0	0	0	0	0	1	1754	1567	55	5		5	C14orf119	14	23567116	Silent	SNP	T	TCGA-CN-4727-01A-01D-1434-08	1735806	23567116	83782424	355	12146											
PRKD1	5587	broad.mit.edu	37	chr14	30066838	30066838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccccaacagaccacatgtCtagagagcgattgtagccct	12	7	9	13	1	1	2	0	0	1	2	1	5	1	2	4	0	3	1	4	0	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:30066838C>T	ENST00000331968.5	-	16	2522	c.2293G>A	c.(2293-2295)Gac>Aac	p.D765N	PRKD1_ENST00000415220.2_Missense_Mutation_p.D773N	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	765	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GACCACATGTCTAGAGAGCGA	0.493													34	157					0	0	0	0	T	30066838	C	T	30066838	3	4	61	1	0	0	0	0	1	0	0	0	12598	913	32	2	457	2	PRKD1	14	30066838	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	6499722	30066838	77282702	356	12147											
NPAS3	64067	broad.mit.edu	37	chr14	34269338	34269338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaggcggaaacggcaaaagGgcggcagcgccagccgccgg	12	0	17	12	6	0	0	0	0	0	0	0	1	0	1	3	6	3	2	3	6	4	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:34269338G>T	ENST00000346562.2	+	11	1803	c.1729G>T	c.(1729-1731)Ggc>Tgc	p.G577C	NPAS3_ENST00000356141.4_Missense_Mutation_p.G609C|NPAS3_ENST00000551492.1_Missense_Mutation_p.G614C|NPAS3_ENST00000548645.1_Missense_Mutation_p.G579C|NPAS3_ENST00000357798.5_Missense_Mutation_p.G596C	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ACGGCAAAAGGGCGGCAGCGC	0.731													4	14					0.150653	0.153566	1	0	T	34269338	G	T	34269338	3	4	61	1	0	0	0	0	1	0	0	0	10634	1232	43	4	1926	4	NPAS3	14	34269338	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	4202500	34269338	73080202	357	12148											
KIAA0586	9786	broad.mit.edu	37	chr14	58917324	58917324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaagttgaagatacgaGttttgataaacagaaatctc	19	10	8	4	1	1	5	0	2	1	3	2	6	1	5	0	0	2	2	0	0	8	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:58917324G>A	ENST00000423743.3	+	9	1115	c.857G>A	c.(856-858)aGt>aAt	p.S286N	KIAA0586_ENST00000354386.6_Missense_Mutation_p.S383N|KIAA0586_ENST00000556134.1_Missense_Mutation_p.S315N|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.S330N	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	330										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGATACGAGTTTTGATAAA	0.328													16	33					0	0	0	0	A	58917324	G	A	58917324	3	1	61	1	0	0	0	0	1	0	0	0	8237	1029	36	4	1019	4	KIAA0586	14	58917324	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	24647986	58917324	48432216	358	12149											
DCAF5	8816	broad.mit.edu	37	chr14	69529205	69529205	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagcaccatgaaggctcCgttgaccaccctaccaatgc	10	9	7	15	1	1	2	1	2	0	0	2	2	2	2	5	1	3	3	5	1	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:69529205C>G	ENST00000341516.5	-	8	1117	c.970G>C	c.(970-972)Gga>Cga	p.G324R	DCAF5_ENST00000557386.1_Missense_Mutation_p.G323R|DCAF5_ENST00000553293.1_Intron|DCAF5_ENST00000554215.1_Missense_Mutation_p.G242R|DCAF5_ENST00000556847.1_Missense_Mutation_p.G242R	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	324						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ATGAAGGCTCCGTTGACCACC	0.413													12	93					0	0	0	0	G	69529205	C	G	69529205	3	3	61	1	0	0	0	0	1	0	0	0	4306	661	23	3	1866	3	DCAF5	14	69529205	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	10611881	69529205	37820335	359	12150											
ZNF410	57862	broad.mit.edu	37	chr14	74371737	74371737	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgagtctggctgtggtaaGcagtttactacagctggaaa	11	11	12	7	0	1	1	0	1	1	0	1	2	1	2	0	3	4	5	0	3	4	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:74371737G>A	ENST00000555044.1	+	7	1058	c.864G>A	c.(862-864)aaG>aaA	p.K288K	ZNF410_ENST00000442160.3_Silent_p.K305K|ZNF410_ENST00000334521.4_Silent_p.K235K|ZNF410_ENST00000324593.6_Silent_p.K288K|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000540593.1_Silent_p.K215K|ZNF410_ENST00000412490.3_3'UTR	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GCTGTGGTAAGCAGTTTACTA	0.527													24	97					0	0	0	0	A	74371737	G	A	74371737	2	1	61	1	0	0	0	0	0	0	0	1	17985	962	34	4		4	ZNF410	14	74371737	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	4842532	74371737	32977803	360	12151											
ZC3H14	79882	broad.mit.edu	37	chr14	89041109	89041109	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaaaaattcaatcatgatGgagaagaggaggaagaagat	21	7	11	2	0	2	5	2	1	0	4	2	8	2	7	0	3	0	0	0	3	8	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:89041109G>T	ENST00000251038.5	+	7	1159	c.934G>T	c.(934-936)Gga>Tga	p.G312*	ZC3H14_ENST00000302216.8_Nonsense_Mutation_p.G312*|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Nonsense_Mutation_p.G157*|ZC3H14_ENST00000556945.1_Nonsense_Mutation_p.G312*|ZC3H14_ENST00000555755.1_Nonsense_Mutation_p.G312*|ZC3H14_ENST00000393514.5_Nonsense_Mutation_p.G312*|ZC3H14_ENST00000359301.3_Nonsense_Mutation_p.G278*|ZC3H14_ENST00000336693.4_Nonsense_Mutation_p.G278*	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	312						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CAATCATGATGGAGAAGAGGA	0.413													10	55					0.000442599	0.000469301	1	0	T	89041109	G	T	89041109	4	4	61	1	0	0	0	0	0	1	0	0	17661	1349	47	4	960	4	ZC3H14	14	89041109	Nonsense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	14669372	89041109	18308431	361	12152											
CCDC88C	440193	broad.mit.edu	37	chr14	91763774	91763774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttcagtgaggttttcagctCcttggtgtgggcgtgcagct	4	14	15	8	1	2	1	2	1	0	0	3	1	3	1	1	3	3	5	1	3	0	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:91763774C>T	ENST00000389857.6	-	22	3927	c.3841G>A	c.(3841-3843)Gag>Aag	p.E1281K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1281					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTTTTCAGCTCCTTGGTGTGG	0.597													5	6					0	0	0	0	T	91763774	C	T	91763774	3	4	61	1	0	0	0	0	1	0	0	0	2892	864	30	2	2281	2	CCDC88C	14	91763774	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	2722665	91763774	15585766	362	12153											
SLC24A4	123041	broad.mit.edu	37	chr14	92958015	92958015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgtcccctgcaggccttgGggacatggcagtctccaaca	7	9	12	13	0	1	0	0	0	1	0	3	1	2	1	4	4	2	3	4	4	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:92958015G>T	ENST00000532405.1	+	15	1770	c.1544G>T	c.(1543-1545)gGg>gTg	p.G515V	SLC24A4_ENST00000393265.2_Missense_Mutation_p.G451V|SLC24A4_ENST00000351924.5_Missense_Mutation_p.G479V|SLC24A4_ENST00000531433.1_Missense_Mutation_p.G496V|SLC24A4_ENST00000298877.1_Missense_Mutation_p.G498V			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	515						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCAGGCCTTGGGGACATGGCA	0.478													28	67					8.58068e-18	1.13885e-17	1	0	T	92958015	G	T	92958015	3	4	61	1	0	0	0	0	1	0	0	0	14556	1232	43	4	1551	4	SLC24A4	14	92958015	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1194241	92958015	14391525	363	12154											
SLC24A4	123041	broad.mit.edu	37	chr14	92958081	92958081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtaggacttggtgtacCgtggggcctgcagaccatgg	6	9	16	10	1	0	1	0	0	0	1	0	2	0	2	4	6	2	3	4	6	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:92958081C>A	ENST00000532405.1	+	15	1836	c.1610C>A	c.(1609-1611)cCg>cAg	p.P537Q	SLC24A4_ENST00000393265.2_Missense_Mutation_p.P473Q|SLC24A4_ENST00000351924.5_Missense_Mutation_p.P501Q|SLC24A4_ENST00000531433.1_Missense_Mutation_p.P518Q|SLC24A4_ENST00000298877.1_Missense_Mutation_p.P520Q			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	537						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CTTGGTGTACCGTGGGGCCTG	0.483													34	93					6.70999e-13	8.3336e-13	1	0	A	92958081	C	A	92958081	3	1	61	1	0	0	0	0	1	0	0	0	14556	652	23	3	1617	3	SLC24A4	14	92958081	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	66	92958081	14391459	364	12155											
FAM181A	90050	broad.mit.edu	37	chr14	94391523	94391523	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaggagagacagcttcAtgagcgggcagtgcagaatg	15	5	15	6	1	1	4	1	1	0	3	1	6	1	5	0	2	3	3	0	2	3	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:94391523A>T	ENST00000267594.5	+	0	213				FAM181A_ENST00000557719.1_Intron|FAM181A-AS1_ENST00000554742.1_RNA	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A											cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGACAGCTTCATGAGCGGGCA	0.567													3	3					0	0	0	0	T	94391523	A	T	94391523	1	4	61	1	0	0	0	0	0	0	0	0	5550	232	8	5		5	FAM181A	14	94391523	Translation_Start_Site	SNP	A	TCGA-CN-4727-01A-01D-1434-08	1433442	94391523	12958017	365	12156											
SERPINA3	12	broad.mit.edu	37	chr14	95080961	95080961	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttcgctttcagcctgtaCaagcagttagtcctgaaggc	9	11	10	11	1	1	1	1	1	0	0	3	2	2	1	2	1	3	4	2	1	4	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:95080961C>A	ENST00000553947.1	+	5	1146	c.258C>A	c.(256-258)taC>taA	p.Y86*	SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.Y61*|SERPINA3_ENST00000467132.1_Nonsense_Mutation_p.Y61*|SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.Y61*|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	61					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCAGCCTGTACAAGCAGTTAG	0.557													80	127					1.43161e-34	2.12362e-34	1	0	A	95080961	C	A	95080961	4	1	61	1	0	0	0	0	0	1	0	0	14177	489	17	4	185	4	SERPINA3	14	95080961	Nonsense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	689438	95080961	12268579	366	12157											
DYNC1H1	1778	broad.mit.edu	37	chr14	102453804	102453804	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggtggatgatctgctGatcattgaagaaaaaataga	15	11	10	5	0	3	5	2	3	1	2	3	6	3	6	0	2	1	1	0	2	5	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:102453804G>T	ENST00000360184.4	+	9	2717	c.2553G>T	c.(2551-2553)ctG>ctT	p.L851L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	851	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATGATCTGCTGATCATTGAAG	0.353													21	61					7.45023e-12	9.09712e-12	1	0	T	102453804	G	T	102453804	2	4	61	1	0	0	0	0	0	0	0	1	4877	1277	45	2		2	DYNC1H1	14	102453804	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	7372843	102453804	4895736	367	12158											
TDRD9	122402	broad.mit.edu	37	chr14	104474748	104474748	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgcttttatatatttaaAggatgaacttaattggggac	12	17	8	4	0	1	1	0	1	1	0	1	3	1	3	0	3	2	1	0	3	7	9			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:104474748A>C	ENST00000409874.4	+	20	2100		c.e20-1		TDRD9_ENST00000339063.5_Splice_Site	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9						cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATATATTTAAAGGATGAACTT	0.264													32	57					0	0	0	0	C	104474748	A	C	104474748	5	2	61	1	0	0	0	0	0	0	1	0	15830	86	3	5	2129	5	TDRD9	14	104474748	Splice_Site	SNP	A	TCGA-CN-4727-01A-01D-1434-08	2020944	104474748	2874792	368	12159											
AHNAK2	113146	broad.mit.edu	37	chr14	105408280	105408280	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtcttgaggtcccccTgcatggagggaatgctcatg	7	10	14	10	0	2	1	1	1	1	0	3	3	3	3	2	4	2	2	2	4	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:105408280T>C	ENST00000333244.5	-	7	13627	c.13508A>G	c.(13507-13509)cAg>cGg	p.Q4503R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4503						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGTCCCCCTGCATGGAGGG	0.597													42	211					0	0	0	0	C	105408280	T	C	105408280	3	2	61	1	0	0	0	0	1	0	0	0	415	1580	55	5	3883	5	AHNAK2	14	105408280	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	933532	105408280	1941260	369	12160											
OR4N4	283694	broad.mit.edu	37	chr15	22382673	22382673	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttctgggcaacttggcCttcctggatgcatcctactc	6	15	8	12	0	1	0	0	0	1	0	4	1	3	1	3	3	3	2	3	3	3	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:22382673C>A	ENST00000328795.4	+	1	292	c.201C>A	c.(199-201)gcC>gcA	p.A67A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCAACTTGGCCTTCCTGGATG	0.483													26	552					1.46156e-29	2.10871e-29	1	0	A	22382673	C	A	22382673	2	1	61	1	0	0	0	0	0	0	0	1	11149	668	24	4		4	OR4N4	15	22382673	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08		22382673	80148719	370	12161											
ATP10A	57194	broad.mit.edu	37	chr15	25959218	25959218	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagcctgagaagcatGccgtcgctggacggggtgga	7	7	15	12	3	0	1	0	1	0	1	3	4	2	3	4	4	3	2	4	4	1	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:25959218G>A	ENST00000356865.6	-	10	2058	c.1947C>T	c.(1945-1947)ggC>ggT	p.G649G		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	649					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGAGAAGCATGCCGTCGCTGG	0.677													22	43					0	0	0	0	A	25959218	G	A	25959218	2	1	61	1	0	0	0	0	0	0	0	1	1120	1306	46	4		4	ATP10A	15	25959218	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	3576545	25959218	76572174	371	12162											
FMN1	342184	broad.mit.edu	37	chr15	33261044	33261044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagtccagggggaggtgggGgtgcaagtcctgggggtggt	6	7	23	5	0	0	1	0	0	0	1	2	2	2	2	2	8	1	1	2	8	1	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:33261044G>T	ENST00000334528.9	-	4	2188	c.2189C>A	c.(2188-2190)cCc>cAc	p.P730H	FMN1_ENST00000559047.1_Missense_Mutation_p.P953H|FMN1_ENST00000561249.1_Missense_Mutation_p.P855H	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	953	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGGAGGTGGGGGTGCAAGTCC	0.612													26	56					4.26978e-12	5.22462e-12	1	0	T	33261044	G	T	33261044	3	4	61	1	0	0	0	0	1	0	0	0	5994	1232	43	4	1457	4	FMN1	15	33261044	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	7301826	33261044	69270348	372	12163											
ACTC1	70	broad.mit.edu	37	chr15	35085611	35085611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcctcgggagccacacGgagctcattgtagaaggtgt	8	9	14	10	2	1	1	1	0	0	1	3	3	2	3	2	3	3	3	2	3	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:35085611G>C	ENST00000290378.4	-	3	944	c.289C>G	c.(289-291)Cgt>Ggt	p.R97G	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	97			R -> C (in CMH11).		apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGAGCCACACGGAGCTCATTG	0.562													72	119					0	0	0	0	C	35085611	G	C	35085611	3	2	61	1	0	0	0	0	1	0	0	0	195	1116	39	3	864	3	ACTC1	15	35085611	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1824567	35085611	67445781	373	12164											
MEIS2	4212	broad.mit.edu	37	chr15	37388489	37388489	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggatcaagaaggctggaCctgcttggcgaagaccgcga	11	6	15	9	3	1	2	1	0	0	2	1	6	1	4	2	4	1	2	2	4	3	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:37388489C>A	ENST00000338564.5	-	4	834		c.e4+1		MEIS2_ENST00000340545.5_Splice_Site|MEIS2_ENST00000382766.2_Splice_Site|MEIS2_ENST00000559561.1_Splice_Site|MEIS2_ENST00000397620.2_Splice_Site|MEIS2_ENST00000397624.3_Splice_Site|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000561208.1_Splice_Site|MEIS2_ENST00000557796.2_Splice_Site|MEIS2_ENST00000424352.2_Splice_Site|MEIS2_ENST00000559085.1_Splice_Site|MEIS2_ENST00000444725.1_Splice_Site	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2						negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GAAGGCTGGACCTGCTTGGCG	0.607													4	24					0.00024832	0.000264753	1	0	A	37388489	C	A	37388489	5	1	61	1	0	0	0	0	0	0	1	0	9537	521	18	4	1148	4	MEIS2	15	37388489	Splice_Site	SNP	C	TCGA-CN-4727-01A-01D-1434-08	2302878	37388489	65142903	374	12165											
UNC13C	440279	broad.mit.edu	37	chr15	54307972	54307972	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaccaaaacattcctgaaCagccagtggagatcacaaag	19	5	7	10	0	1	2	1	1	0	1	2	3	2	2	3	1	4	0	3	1	6	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:54307972C>T	ENST00000545554.1	+	1	2872	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*	UNC13C_ENST00000260323.11_Nonsense_Mutation_p.Q958*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q958*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	958					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CATTCCTGAACAGCCAGTGGA	0.403													4	21					0	0	0	0	T	54307972	C	T	54307972	4	4	61	1	0	0	0	0	0	1	0	0	17082	479	17	4	2874	4	UNC13C	15	54307972	Nonsense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	16919483	54307972	48223420	375	12166											
IQCH	64799	broad.mit.edu	37	chr15	67652185	67652185	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtctcattcttcattgtagGggaaaagcagaaggtcaaga	13	11	11	6	0	4	2	3	0	2	2	5	3	4	3	0	3	1	2	0	3	5	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:67652185G>T	ENST00000335894.4	+	8	781	c.714_splice	c.e8-1	p.G239_splice	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_Splice_Site_p.G66_splice	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	239										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTCATTGTAGGGGAAAAGCAG	0.418													26	186					3.73148e-12	4.58529e-12	1	0	T	67652185	G	T	67652185	5	4	61	1	0	0	0	0	0	0	1	0	7864	1246	43	4	873	4	IQCH	15	67652185	Splice_Site	SNP	G	TCGA-CN-4727-01A-01D-1434-08	13344213	67652185	34879207	376	12167											
ETFA	2108	broad.mit.edu	37	chr15	76588079	76588079	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatcgtagcaatgaggcCtaaaaagagcaaaaaggaaa	21	5	10	5	1	0	3	0	2	0	1	1	4	0	4	1	2	2	3	1	2	9	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:76588079C>A	ENST00000557943.1	-	2	120		c.e2-1		ETFA_ENST00000433983.2_Intron|ETFA_ENST00000559602.1_Intron|ETFA_ENST00000560726.1_Intron	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide						respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						GCAATGAGGCCTAAAAAGAGC	0.353													16	49					6.94344e-10	8.18536e-10	1	0	A	76588079	C	A	76588079	5	1	61	1	0	0	0	0	0	0	1	0	5307	695	24	4	1006	4	ETFA	15	76588079	Splice_Site	SNP	C	TCGA-CN-4727-01A-01D-1434-08	8935894	76588079	25943313	377	12168											
ADAMTS7	11173	broad.mit.edu	37	chr15	79056076	79056076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccacccactgcgtgcaggGgtgggtgttgcagggccggg	5	6	18	12	2	0	0	0	0	0	0	0	0	0	0	3	5	3	3	3	5	0	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:79056076G>T	ENST00000388820.4	-	22	4915	c.4705C>A	c.(4705-4707)Ccc>Acc	p.P1569T		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1569	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGCGTGCAGGGGTGGGTGTTG	0.701													3	45					1	1	1	0	T	79056076	G	T	79056076	3	4	61	1	0	0	0	0	1	0	0	0	271	1232	43	4	367	4	ADAMTS7	15	79056076	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2467997	79056076	23475316	378	12169											
RASGRF1	5923	broad.mit.edu	37	chr15	79292140	79292140	+	Frame_Shift_Del	DEL	G	G	-																															ttgtttggggtgccctcgttGgccccggcggttgctatggc																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:79292140delG	ENST00000419573.3	-	18	3013	c.2739delC	c.(2737-2739)gcfs	p.A913fs	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Frame_Shift_Del_p.A897fs|RASGRF1_ENST00000394745.3_Frame_Shift_Del_p.A129fs	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	915					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGCCCTCGTTGGCCCCGGCGG	0.582													30	187	---	---	---	---					-	79292140	G	-	79292140	7	5	61	1	0	1	0	1	0	0	0	0	13154	1335	47	0	1126	0	RASGRF1	15	79292140	Frame_Shift_Del	DEL	G	TCGA-CN-4727-01A-01D-1434-08	236064	79292140	23239252	379	12170											
FAH	2184	broad.mit.edu	37	chr15	80450432	80450432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggataggtgtggccattggcGaccagatcctggacctcagc	8	8	14	11	1	1	1	1	0	0	1	2	4	2	3	4	5	1	0	4	5	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:80450432G>A	ENST00000407106.1	+	3	267	c.112G>A	c.(112-114)Gac>Aac	p.D38N	FAH_ENST00000261755.5_Missense_Mutation_p.D38N|FAH_ENST00000539156.1_5'UTR|FAH_ENST00000561421.1_Missense_Mutation_p.D38N			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	38					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCCATTGGCGACCAGATCCT	0.527									Tyrosinemia, type 1				41	202					0	0	0	0	A	80450432	G	A	80450432	3	1	61	1	0	0	0	0	1	0	0	0	5412	1058	37	1	118	1	FAH	15	80450432	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1158292	80450432	22080960	380	12171											
TMC3	342125	broad.mit.edu	37	chr15	81650821	81650821	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcctggctgtgcttccAaagggctggcctgcaatcag	6	11	12	12	0	2	0	1	0	1	0	4	0	4	0	3	3	2	4	3	3	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:81650821A>T	ENST00000558726.1	-	6	657	c.522T>A	c.(520-522)ttT>ttA	p.F174L	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.F174L|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	174						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CTGTGCTTCCAAAGGGCTGGC	0.567													8	30					0	0	0	0	T	81650821	A	T	81650821	3	4	61	1	0	0	0	0	1	0	0	0	16080	127	5	5	2848	5	TMC3	15	81650821	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	1200389	81650821	20880571	381	12172											
AP3B2	8120	broad.mit.edu	37	chr15	83333627	83333627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgactccccctcagaGtccgagtagaagggtttttc	7	10	12	12	1	1	3	1	1	0	2	4	4	3	3	4	2	0	2	4	2	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:83333627G>T	ENST00000261722.3	-	17	2247	c.2040C>A	c.(2038-2040)gaC>gaA	p.D680E	AP3B2_ENST00000535359.1_Missense_Mutation_p.D699E|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.D648E	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	680	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCCCCTCAGAGTCCGAGTAGA	0.567													3	21					0.004672	0.00486492	1	0	T	83333627	G	T	83333627	3	4	61	1	0	0	0	0	1	0	0	0	746	1020	36	4	1248	4	AP3B2	15	83333627	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1682806	83333627	19197765	382	12173											
AP3B2	8120	broad.mit.edu	37	chr15	83335614	83335614	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagctgccgggtgaagcgCgcccggtcgcgaatatcata	9	7	14	11	6	1	2	1	2	0	0	2	3	1	2	2	2	3	1	2	2	4	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:83335614C>A	ENST00000261722.3	-	15	1944	c.1737G>T	c.(1735-1737)gcG>gcT	p.A579A	AP3B2_ENST00000535359.1_Silent_p.A579A|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.A547A	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	579					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGTGAAGCGCGCCCGGTCGC	0.597													28	92					1.04121e-07	1.18181e-07	1	0	A	83335614	C	A	83335614	2	1	61	1	0	0	0	0	0	0	0	1	746	755	27	3		3	AP3B2	15	83335614	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1987	83335614	19195778	383	12174											
SPATA8	145946	broad.mit.edu	37	chr15	97327404	97327404	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgtcgcgacatttctcAgaagccatgacatgtccctg	9	10	8	14	3	1	2	1	1	1	1	5	3	2	2	3	0	1	0	3	0	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:97327404A>G	ENST00000328504.3	+	2	378	c.111A>G	c.(109-111)tcA>tcG	p.S37S	SPATA8_ENST00000558553.1_5'UTR	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	37										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GACATTTCTCAGAAGCCATGA	0.582													34	86					0	0	0	0	G	97327404	A	G	97327404	2	3	61	1	0	0	0	0	0	0	0	1	15105	175	7	5		5	SPATA8	15	97327404	Silent	SNP	A	TCGA-CN-4727-01A-01D-1434-08	13991790	97327404	5203988	384	12175											
PIGQ	9091	broad.mit.edu	37	chr16	632905	632905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacccactgccctacagccGcgtggtgcacacctaccgcc	9	5	8	19	3	0	0	0	0	0	0	0	0	0	0	6	1	6	1	6	1	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:632905G>T	ENST00000321878.5	+	11	1775	c.1616G>T	c.(1615-1617)cGc>cTc	p.R539L	PIGQ_ENST00000409527.2_Missense_Mutation_p.R539L|PIGQ_ENST00000026218.5_Silent_p.P518P	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	0					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCCTACAGCCGCGTGGTGCAC	0.667													103	145					4.85316e-53	7.54647e-53	1	0	T	632905	G	T	632905	3	4	61	1	0	0	0	0	1	0	0	0	11968	1087	38	3	1654	3	PIGQ	16	632905	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08		632905	89721848	385	12176											
CEMP1	752014	broad.mit.edu	37	chr16	2580803	2580803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggttgatctcagcccaCaagccccaggggcagcccag	10	4	13	14	0	1	1	1	1	1	0	2	1	1	1	4	4	3	2	4	4	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:2580803C>T	ENST00000382350.1	-	1	617	c.272G>A	c.(271-273)tGt>tAt	p.C91Y	AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000565480.1_Intron|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.C91Y|AMDHD2_ENST00000413459.3_3'UTR			Q6PRD7	CEMP1_HUMAN	cementum protein 1	91						cytoplasm				lung(1)|skin(1)	2						TCTCAGCCCACAAGCCCCAGG	0.657													29	47					0	0	0	0	T	2580803	C	T	2580803	3	4	61	1	0	0	0	0	1	0	0	0	3253	478	17	4	475	4	CEMP1	16	2580803	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1947898	2580803	87773950	386	12177											
MGRN1	23295	broad.mit.edu	37	chr16	4731766	4731766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggcaggccgcagagcaaGgcccccgacaggtgagcagc	11	1	16	13	2	0	2	0	1	0	1	0	3	0	2	3	4	3	4	3	4	2	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:4731766G>T	ENST00000399577.5	+	13	1440	c.1347G>T	c.(1345-1347)aaG>aaT	p.K449N	MGRN1_ENST00000588994.1_Missense_Mutation_p.K427N|MGRN1_ENST00000262370.7_Missense_Mutation_p.K449N|MGRN1_ENST00000415496.1_Missense_Mutation_p.K428N|MGRN1_ENST00000586183.1_Missense_Mutation_p.K427N	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	449					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CGCAGAGCAAGGCCCCCGACA	0.647													5	28					0.010729	0.0111122	1	0	T	4731766	G	T	4731766	3	4	61	1	0	0	0	0	1	0	0	0	9628	991	35	4	1400	4	MGRN1	16	4731766	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2150963	4731766	85622987	387	12178											
XYLT1	64131	broad.mit.edu	37	chr16	17202577	17202577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccggccatcaggtttgActgcccccagctccgacttg	6	9	11	15	2	1	2	1	2	0	0	2	3	2	2	5	2	3	2	5	2	0	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:17202577A>G	ENST00000261381.6	-	12	2939	c.2855T>C	c.(2854-2856)gTc>gCc	p.V952A		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	952					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCAGGTTTGACTGCCCCCAG	0.662													5	42					0	0	0	0	G	17202577	A	G	17202577	3	3	61	1	0	0	0	0	1	0	0	0	17559	275	10	5	28	5	XYLT1	16	17202577	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	12470811	17202577	73152176	388	12179											
TNRC6A	27327	broad.mit.edu	37	chr16	24801674	24801674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttaacacaaacaaaggaGgtggtgtgtgggaatctggt	14	9	14	4	0	1	0	0	0	1	0	1	2	1	2	0	5	2	1	0	5	5	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:24801674G>A	ENST00000395799.3	+	6	1840	c.1711G>A	c.(1711-1713)Ggt>Agt	p.G571S	TNRC6A_ENST00000315183.7_Missense_Mutation_p.G571S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	571	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AAACAAAGGAGGTGGTGTGTG	0.488													27	96					0	0	0	0	A	24801674	G	A	24801674	3	1	61	1	0	0	0	0	1	0	0	0	16434	1000	35	4	1733	4	TNRC6A	16	24801674	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	7599097	24801674	65553079	389	12180											
ZNF720	124411	broad.mit.edu	37	chr16	31733987	31733987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccatagaattctctcGggaggagtgggaacacctgg	9	9	15	8	1	1	1	0	0	1	1	3	4	1	4	2	5	1	0	2	5	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:31733987G>T	ENST00000316491.9	+	2	243	c.44G>T	c.(43-45)cGg>cTg	p.R15L	ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000398696.3_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000399681.3_5'UTR	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	15	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						GAATTCTCTCGGGAGGAGTGG	0.458													31	123					9.85913e-13	1.22186e-12	1	0	T	31733987	G	T	31733987	3	4	61	1	0	0	0	0	1	0	0	0	18216	1116	39	3	50	3	ZNF720	16	31733987	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	6932313	31733987	58620766	390	12181											
ABCC11	85320	broad.mit.edu	37	chr16	48232119	48232119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttttctgcattaactcaCtgtgagttccattttcacag	8	17	5	11	0	3	1	2	1	1	0	4	1	4	1	2	0	2	2	2	0	1	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:48232119C>T	ENST00000394747.1	-	15	2499	c.2150G>A	c.(2149-2151)aGt>aAt	p.S717N	ABCC11_ENST00000356608.2_Missense_Mutation_p.S717N|ABCC11_ENST00000537808.1_Missense_Mutation_p.S717N|ABCC11_ENST00000353782.5_Missense_Mutation_p.S717N|ABCC11_ENST00000394748.1_Missense_Mutation_p.S717N	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	717	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CATTAACTCACTGTGAGTTCC	0.438													30	150					0	0	0	0	T	48232119	C	T	48232119	3	4	61	1	0	0	0	0	1	0	0	0	51	565	20	4	2058	4	ABCC11	16	48232119	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	16498132	48232119	42122634	391	12182											
LONP2	83752	broad.mit.edu	37	chr16	48278415	48278415	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggactcggcccgcaaccTgcagctggtgcggagccgcc	5	5	15	16	5	0	0	0	0	0	0	1	2	0	2	4	4	5	3	4	4	1	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:48278415T>A	ENST00000285737.4	+	1	209	c.116T>A	c.(115-117)cTg>cAg	p.L39Q	ABCC11_ENST00000356608.2_Intron|ABCC11_ENST00000537808.1_Intron|LONP2_ENST00000535754.1_Missense_Mutation_p.L39Q	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	39	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCCCGCAACCTGCAGCTGGTG	0.701													6	5					0	0	0	0	A	48278415	T	A	48278415	3	1	61	1	0	0	0	0	1	0	0	0	8957	1580	55	5	118	5	LONP2	16	48278415	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	46296	48278415	42076338	392	12183											
ZNF423	23090	broad.mit.edu	37	chr16	49669635	49669635	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccggcgtgaggtcacggTggtccacctgcatgtggctc	4	10	14	13	3	2	1	1	1	1	0	5	1	3	1	3	5	1	2	3	5	0	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:49669635T>A	ENST00000561648.1	-	4	3481	c.3428A>T	c.(3427-3429)cAc>cTc	p.H1143L	ZNF423_ENST00000262383.2_Missense_Mutation_p.H1143L|ZNF423_ENST00000563137.2_Missense_Mutation_p.H1083L|ZNF423_ENST00000562871.1_Missense_Mutation_p.H1083L|ZNF423_ENST00000567169.1_Missense_Mutation_p.H1026L|ZNF423_ENST00000535559.1_Missense_Mutation_p.H1026L|ZNF423_ENST00000562520.1_Missense_Mutation_p.H1083L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1143					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAGGTCACGGTGGTCCACCTG	0.672													35	181					0	0	0	0	A	49669635	T	A	49669635	3	1	61	1	0	0	0	0	1	0	0	0	17993	1696	59	5	446	5	ZNF423	16	49669635	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	1391220	49669635	40685118	393	12184											
SF3B3	23450	broad.mit.edu	37	chr16	70575702	70575702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaccttgtgctggttgatGagttggacagcctctctccc	8	12	10	11	0	1	2	0	2	1	0	3	3	2	3	3	2	3	3	3	2	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:70575702G>A	ENST00000302516.5	+	9	1409	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	400					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCTGGTTGATGAGTTGGACAG	0.448													6	297					0	0	0	0	A	70575702	G	A	70575702	3	1	61	1	0	0	0	0	1	0	0	0	14239	1291	45	2	1228	2	SF3B3	16	70575702	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	20906067	70575702	19779051	394	12185											
HP	3240	broad.mit.edu	37	chr16	72094424	72094424	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatgtttctggctgggggCgaaatgccaattttaaattt	9	16	11	5	1	1	0	0	0	1	0	1	1	1	0	1	3	1	3	1	3	5	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:72094424C>A	ENST00000355906.5	+	7	914	c.856C>A	c.(856-858)Cga>Aga	p.R286R	HP_ENST00000565574.1_Silent_p.R227R|HP_ENST00000570083.1_Silent_p.R227R|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Silent_p.R227R	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	286	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TGGCTGGGGGCGAAATGCCAA	0.468													39	33					6.29468e-14	7.91956e-14	1	0	A	72094424	C	A	72094424	2	1	61	1	0	0	0	0	0	0	0	1	7377	760	27	3		3	HP	16	72094424	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1518722	72094424	18260329	395	12186											
ZNF778	197320	broad.mit.edu	37	chr16	89294059	89294059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catacacgtgtaaggactgcGggaaagccttctgtacatcc	11	9	10	11	2	1	0	0	0	1	0	2	2	2	2	2	2	4	2	2	2	4	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:89294059G>T	ENST00000433976.2	+	6	1611	c.1279G>T	c.(1279-1281)Ggg>Tgg	p.G427W	ZNF778_ENST00000306502.6_Missense_Mutation_p.G385W|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TAAGGACTGCGGGAAAGCCTT	0.502													21	109					1.10923e-09	1.30234e-09	1	0	T	89294059	G	T	89294059	3	4	61	1	0	0	0	0	1	0	0	0	18244	1116	39	3	1297	3	ZNF778	16	89294059	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	17199635	89294059	1060694	396	12187											
MYBBP1A	10514	broad.mit.edu	37	chr17	4442815	4442815	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgcctttttccgtgccagCgcggacagtggtgatttgcc	4	13	12	12	3	0	1	0	1	0	0	1	2	1	2	4	2	4	0	4	2	0	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:4442815C>G	ENST00000254718.4	-	26	4188	c.3882G>C	c.(3880-3882)gcG>gcC	p.A1294A	MYBBP1A_ENST00000381556.2_Silent_p.A1294A			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1294	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TCCGTGCCAGCGCGGACAGTG	0.582													92	398					0	0	0	0	G	4442815	C	G	4442815	2	3	61	1	0	0	0	0	0	0	0	1	10078	755	27	3		3	MYBBP1A	17	4442815	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08		4442815	76752395	397	12188											
ZMYND15	84225	broad.mit.edu	37	chr17	4646665	4646665	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcctcactcgtggctattgGacccagctcagcatgctgat	7	10	11	13	1	2	1	2	1	0	0	3	2	2	2	2	3	3	4	2	3	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:4646665G>C	ENST00000433935.1	+	6	1269	c.1212G>C	c.(1210-1212)tgG>tgC	p.W404C	ZMYND15_ENST00000573751.2_Missense_Mutation_p.W404C|ZMYND15_ENST00000269289.6_Missense_Mutation_p.W404C|ZMYND15_ENST00000592813.1_Missense_Mutation_p.W404C	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	404							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGGCTATTGGACCCAGCTCA	0.612													139	270					0	0	0	0	C	4646665	G	C	4646665	3	2	61	1	0	0	0	0	1	0	0	0	17803	1183	41	2	1230	2	ZMYND15	17	4646665	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	203850	4646665	76548545	398	12189											
TP53	7157	broad.mit.edu	37	chr17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctccctgggggcagctCgtggtgaggctcccctttct	3	11	14	13	1	1	1	0	1	1	0	4	1	3	1	3	4	2	4	3	4	0	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGGGCAGCTCGTGGTGAGGC	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			97	62					2.28585e-32	3.33953e-32	1	0	A	7577046	C	A	7577046	4	1	61	1	0	0	0	0	0	1	0	0	16476	893	31	3	394	3	TP53	17	7577046	Nonsense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	2930381	7577046	73618164	399	12190											
MYH13	8735	broad.mit.edu	37	chr17	10267796	10267796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctccttctctggtttccGgaggtagggagctgcttctc	3	15	11	12	1	3	0	0	0	3	0	8	2	5	2	2	4	2	4	2	4	1	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:10267796G>A	ENST00000418404.3	-	2	215	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	MYH13_ENST00000570743.1_Missense_Mutation_p.R18W|MYH13_ENST00000252172.4_Missense_Mutation_p.R18W			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	18	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R18R(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTGGTTTCCGGAGGTAGGGA	0.493													16	13					0	0	0	0	A	10267796	G	A	10267796	3	1	61	1	0	0	0	0	1	0	0	0	10102	1115	39	1	5920	1	MYH13	17	10267796	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2690750	10267796	70927414	400	12191											
MYH3	4621	broad.mit.edu	37	chr17	10545739	10545739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcactcctcttaccatccGccgtggcaaacgtggcatag	10	8	9	14	3	1	0	0	0	1	0	3	0	3	0	4	2	3	3	4	2	4	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:10545739G>A	ENST00000583535.1	-	16	1970	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	MYH3_ENST00000226209.7_Missense_Mutation_p.A628V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	628	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTTACCATCCGCCGTGGCAAA	0.507													16	102					0	0	0	0	A	10545739	G	A	10545739	3	1	61	1	0	0	0	0	1	0	0	0	10106	1087	38	1	4043	1	MYH3	17	10545739	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	277943	10545739	70649471	401	12192											
DNAH9	1770	broad.mit.edu	37	chr17	11543689	11543689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctttcagcaactttggacGcatcacacacccgtgagtat	10	11	7	13	2	2	1	2	1	0	0	3	2	3	2	2	1	2	3	2	1	2	3	rs111906560	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:11543689G>C	ENST00000262442.3	+	10	1957	c.1889G>C	c.(1888-1890)cGc>cCc	p.R630P	DNAH9_ENST00000454412.2_Missense_Mutation_p.R630P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	630	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTTTGGACGCATCACACAC	0.557													37	179					0	0	0	0	C	11543689	G	C	11543689	3	2	61	1	0	0	0	0	1	0	0	0	4644	1087	38	3	1927	3	DNAH9	17	11543689	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	997950	11543689	69651521	402	12193											
DNAH9	1770	broad.mit.edu	37	chr17	11597644	11597644	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctgtgccctcagattgtgCctgtgtgagaaggccctggc	5	12	13	11	0	2	2	1	1	1	2	2	3	2	2	3	2	2	0	3	2	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:11597644C>T	ENST00000262442.3	+	22	4820	c.4752C>T	c.(4750-4752)tgC>tgT	p.C1584C	DNAH9_ENST00000454412.2_Silent_p.C1584C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1584	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCAGATTGTGCCTGTGTGAGA	0.458													4	96					0	0	0	0	T	11597644	C	T	11597644	2	4	61	1	0	0	0	0	0	0	0	1	4644	747	26	4		4	DNAH9	17	11597644	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	53955	11597644	69597566	403	12194											
ZNF18	7566	broad.mit.edu	37	chr17	11895761	11895761	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cataataccctctgcttaccCattgccacagtctctggggg	8	11	8	14	0	2	0	0	0	2	0	3	0	2	0	3	2	4	1	3	2	3	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:11895761C>T	ENST00000322748.3	-	4	990	c.387_splice	c.e4+1	p.W129_splice	ZNF18_ENST00000580613.1_Splice_Site_p.W78_splice|ZNF18_ENST00000454073.3_Splice_Site_p.W129_splice|ZNF18_ENST00000580306.1_Splice_Site_p.W129_splice	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	129					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TCTGCTTACCCATTGCCACAG	0.507													44	79					0	0	0	0	T	11895761	C	T	11895761	5	4	61	1	0	0	0	0	0	0	1	0	17842	608	21	4	1287	4	ZNF18	17	11895761	Splice_Site	SNP	C	TCGA-CN-4727-01A-01D-1434-08	298117	11895761	69299449	404	12195											
SLC5A10	125206	broad.mit.edu	37	chr17	18862478	18862478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctcttcgccagcagcgagGgctctggcctcttcattgga	5	10	11	15	2	4	0	1	0	3	0	5	2	4	1	3	3	2	2	3	3	0	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:18862478G>T	ENST00000317977.6	+	3	617	c.46G>T	c.(46-48)Ggc>Tgc	p.G16C	SLC5A10_ENST00000417251.2_Missense_Mutation_p.G72C|SLC5A10_ENST00000395645.3_Missense_Mutation_p.G72C|SLC5A10_ENST00000395643.2_Missense_Mutation_p.G72C|SLC5A10_ENST00000395647.2_Missense_Mutation_p.G72C|SLC5A10_ENST00000395642.1_Missense_Mutation_p.G16C			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	72					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CAGCAGCGAGGGCTCTGGCCT	0.652													13	58					7.88262e-20	1.06324e-19	1	0	T	18862478	G	T	18862478	3	4	61	1	0	0	0	0	1	0	0	0	14750	1232	43	4	224	4	SLC5A10	17	18862478	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	6966717	18862478	62332732	405	12196											
KSR1	8844	broad.mit.edu	37	chr17	25935022	25935022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagacgaggcaaatcgctCaggagatcatcaaggtgagg	15	5	13	8	2	3	3	3	1	0	2	4	5	3	3	0	4	0	2	0	4	3	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:25935022C>A	ENST00000398988.3	+	17	2177	c.1732C>A	c.(1732-1734)Cag>Aag	p.Q578K	KSR1_ENST00000509603.2_Missense_Mutation_p.Q693K|KSR1_ENST00000268763.6_Missense_Mutation_p.Q578K|KSR1_ENST00000319524.6_Missense_Mutation_p.Q715K	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	713					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCAAATCGCTCAGGAGATCAT	0.607													5	6					0.184627	0.186557	1	0	A	25935022	C	A	25935022	3	1	61	1	0	0	0	0	1	0	0	0	8634	827	29	2	1782	2	KSR1	17	25935022	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	7072544	25935022	55260188	406	12197											
ALDOC	230	broad.mit.edu	37	chr17	26902143	26902143	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggccaggggctgcacctTgatgcccacgacgatgccct	7	6	13	15	2	0	1	0	1	0	0	0	3	0	1	4	3	3	2	4	3	0	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:26902143T>C	ENST00000226253.4	-	3	797	c.322A>G	c.(322-324)Aag>Gag	p.K108E	ALDOC_ENST00000395321.2_Missense_Mutation_p.K108E|ALDOC_ENST00000395319.3_Missense_Mutation_p.K108E	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	108					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GGCTGCACCTTGATGCCCACG	0.527											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	101					0	0	0	0	C	26902143	T	C	26902143	3	2	61	1	0	0	0	0	1	0	0	0	509	1821	63	5	800	5	ALDOC	17	26902143	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	967121	26902143	54293067	407	12198											
MPP2	4355	broad.mit.edu	37	chr17	41959835	41959836	+	Frame_Shift_Del	DEL	GC	GC	-																															accatgcccccatgcagaatGcgcgcgatcaccagctcgcc																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:41959835_41959836delGC	ENST00000269095.4	-	6	801_802	c.497_498delGC	c.(496-498)cfs	p.R166fs	MPP2_ENST00000523501.1_Frame_Shift_Del_p.R155fs|MPP2_ENST00000520305.1_Frame_Shift_Del_p.R27fs|MPP2_ENST00000518766.1_Frame_Shift_Del_p.R211fs|MPP2_ENST00000377184.3_Frame_Shift_Del_p.R183fs|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000461854.1_Frame_Shift_Del_p.R190fs|MPP2_ENST00000536246.1_Frame_Shift_Del_p.R155fs	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	190					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CATGCAGAATGCGCGCGATCAC	0.609													44	77	---	---	---	---					-	41959836	GC	-	41959835	7	5	61	1	0	1	0	1	0	0	0	0	9804	1306	46	0	1192	0	MPP2	17	41959835	Frame_Shift_Del	DEL	GC	TCGA-CN-4727-01A-01D-1434-08	15057692	41959835	39235375	408	12199											
NGFR	4804	broad.mit.edu	37	chr17	47589374	47589374	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgtggacagccagagcctGcatgaccagcagccccacac	10	4	10	17	1	0	2	0	1	0	1	1	3	1	3	6	1	5	2	6	1	0	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:47589374G>A	ENST00000172229.3	+	5	1067	c.942G>A	c.(940-942)ctG>ctA	p.L314L	NGFR_ENST00000504201.1_Silent_p.L220L|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	314					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCAGAGCCTGCATGACCAGC	0.637													20	27					0	0	0	0	A	47589374	G	A	47589374	2	1	61	1	0	0	0	0	0	0	0	1	10466	1306	46	4		4	NGFR	17	47589374	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	5629539	47589374	33605836	409	12200											
CA10	56934	broad.mit.edu	37	chr17	49713340	49713340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctggatatagttcctctAtattaagcccctgtagtaaa	11	15	6	9	0	2	0	0	0	2	0	4	1	3	1	3	1	1	3	3	1	8	8			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:49713340A>G	ENST00000451037.2	-	7	1605	c.665T>C	c.(664-666)aTa>aCa	p.I222T	CA10_ENST00000570565.1_Missense_Mutation_p.I147T|CA10_ENST00000285273.4_Missense_Mutation_p.I222T|CA10_ENST00000340813.6_Missense_Mutation_p.I228T|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.I222T	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	222					brain development			p.I222T(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TAGTTCCTCTATATTAAGCCC	0.383													33	109					0	0	0	0	G	49713340	A	G	49713340	3	3	61	1	0	0	0	0	1	0	0	0	2536	449	16	5	333	5	CA10	17	49713340	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	2123966	49713340	31481870	410	12201											
PSMC5	5705	broad.mit.edu	37	chr17	61905529	61905529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggggaaggcaggcagcgGactccgccaatattatctgt	10	7	15	9	2	1	0	0	0	1	0	2	3	2	3	2	6	1	2	2	6	4	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:61905529G>T	ENST00000310144.6	+	2	364	c.56G>T	c.(55-57)gGa>gTa	p.G19V	PSMC5_ENST00000375812.4_Missense_Mutation_p.G11V|PSMC5_ENST00000581882.1_Missense_Mutation_p.G11V|PSMC5_ENST00000580864.1_Missense_Mutation_p.G11V|FTSJ3_ENST00000580295.1_Intron	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GCAGGCAGCGGACTCCGCCAA	0.542													29	65					8.16721e-17	1.0693e-16	1	0	T	61905529	G	T	61905529	3	4	61	1	0	0	0	0	1	0	0	0	12769	1174	41	2	62	2	PSMC5	17	61905529	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	12192189	61905529	19289681	411	12202											
SCN4A	6329	broad.mit.edu	37	chr17	62049720	62049720	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcaggatatgcatggatGagcaccttgatggccccgcg	8	8	15	10	2	0	2	0	2	0	0	0	4	0	4	3	4	2	3	3	4	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:62049720G>A	ENST00000435607.1	-	2	460	c.384C>T	c.(382-384)ctC>ctT	p.L128L	SCN4A_ENST00000578147.1_Silent_p.L128L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	128					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATGCATGGATGAGCACCTTGA	0.612													6	29					0	0	0	0	A	62049720	G	A	62049720	2	1	61	1	0	0	0	0	0	0	0	1	14007	1277	45	2		2	SCN4A	17	62049720	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	144191	62049720	19145490	412	12203											
SCN4A	6329	broad.mit.edu	37	chr17	62049989	62049989	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgccgatgacctccggcggGgggtctccgtagatcatggg	6	8	16	11	4	2	2	1	1	1	1	4	3	3	2	4	5	1	1	4	5	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:62049989G>T	ENST00000435607.1	-	1	289	c.213C>A	c.(211-213)ccC>ccA	p.P71P	SCN4A_ENST00000578147.1_Silent_p.P71P	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	71					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCTCCGGCGGGGGGTCTCCGT	0.592													3	15					6.4e-05	6.87559e-05	1	0	T	62049989	G	T	62049989	2	4	61	1	0	0	0	0	0	0	0	1	14007	1219	43	4		4	SCN4A	17	62049989	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	269	62049989	19145221	413	12204											
LRRC37A3	374819	broad.mit.edu	37	chr17	62855907	62855907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggctcgggggacaggtCagtgcccacgttgttgtatt	5	13	15	8	2	1	0	1	0	0	0	2	1	1	1	1	4	1	4	1	4	1	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:62855907C>A	ENST00000584306.1	-	11	4887	c.4357G>T	c.(4357-4359)Gac>Tac	p.D1453Y	LRRC37A3_ENST00000400877.3_Missense_Mutation_p.D491Y|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.D571Y|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.D1453Y|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.D430Y	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1453						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGGGACAGGTCAGTGCCCACG	0.502													26	125					1.13719e-10	1.35435e-10	1	0	A	62855907	C	A	62855907	3	1	61	1	0	0	0	0	1	0	0	0	9057	826	29	2	563	2	LRRC37A3	17	62855907	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	805918	62855907	18339303	414	12205											
HELZ	9931	broad.mit.edu	37	chr17	65147297	65147297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaacagtactgatgcaCaactgggtggacagtcttta	13	10	10	8	0	2	1	1	1	1	0	2	3	2	2	0	2	4	2	0	2	4	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:65147297C>T	ENST00000358691.5	-	18	2387	c.2221G>A	c.(2221-2223)Gtg>Atg	p.V741M	HELZ_ENST00000580168.1_Missense_Mutation_p.V742M	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TACTGATGCACAACTGGGTGG	0.378													31	153					0	0	0	0	T	65147297	C	T	65147297	3	4	61	1	0	0	0	0	1	0	0	0	7099	478	17	4	3671	4	HELZ	17	65147297	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	2291390	65147297	16047913	415	12206											
SOX9	6662	broad.mit.edu	37	chr17	70120399	70120399	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctactccaccttcacCtacatgaaccccgctcagcg	8	8	6	19	2	3	1	2	1	1	0	4	1	4	1	6	1	4	1	6	1	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:70120399C>A	ENST00000245479.2	+	3	1773	c.1401C>A	c.(1399-1401)acC>acA	p.T467T		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	467					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCACCTTCACCTACATGAACC	0.642													29	135					0.000184323	0.000197611	1	0	A	70120399	C	A	70120399	2	1	61	1	0	0	0	0	0	0	0	1	15046	668	24	4		4	SOX9	17	70120399	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	4973102	70120399	11074811	416	12207											
UBE2O	63893	broad.mit.edu	37	chr17	74388027	74388027	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaggctgacacacacCttcccattgtcatacaggtt	10	9	8	14	0	1	1	1	1	0	0	2	2	2	2	3	3	1	2	3	3	1	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:74388027C>G	ENST00000319380.7	-	16	3178	c.3114G>C	c.(3112-3114)aaG>aaC	p.K1038N		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1038							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGACACACACCTTCCCATTGT	0.607													8	27					0	0	0	0	G	74388027	C	G	74388027	3	3	61	1	0	0	0	0	1	0	0	0	16964	680	24	4	776	4	UBE2O	17	74388027	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	4267628	74388027	6807183	417	12208											
TBC1D16	125058	broad.mit.edu	37	chr17	77914883	77914883	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggatccggggcaggaggcgGaactggtacagcaaactcct	10	5	16	10	2	0	0	0	0	0	0	2	3	2	3	2	7	4	3	2	7	3	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:77914883G>A	ENST00000310924.2	-	12	2194	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F	TBC1D16_ENST00000340848.7_Silent_p.F331F|TBC1D16_ENST00000576768.1_Silent_p.F318F	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	693						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCAGGAGGCGGAACTGGTACA	0.677													3	18					0	0	0	0	A	77914883	G	A	77914883	2	1	61	1	0	0	0	0	0	0	0	1	15696	1165	41	2		2	TBC1D16	17	77914883	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	3526856	77914883	3280327	418	12209											
TMEM105	284186	broad.mit.edu	37	chr17	79287662	79287662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccccaaggagaccgaggtGgggacccctggggagacgtc	8	3	16	14	2	0	2	0	0	0	2	1	6	0	3	6	6	0	0	6	6	1	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:79287662G>A	ENST00000332900.1	-	3	728	c.179C>T	c.(178-180)cCa>cTa	p.P60L		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	60						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			AGACCGAGGTGGGGACCCCTG	0.632													28	131					0	0	0	0	A	79287662	G	A	79287662	3	1	61	1	0	0	0	0	1	0	0	0	16113	1348	47	4	214	4	TMEM105	17	79287662	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1372779	79287662	1907548	419	12210											
LAMA1	284217	broad.mit.edu	37	chr18	6956666	6956666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggctctggcaagagcttgCtgtcctctgcatcgggagcc	5	9	15	12	1	2	1	0	0	2	1	4	2	3	2	2	4	4	5	2	4	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:6956666C>A	ENST00000389658.3	-	56	8156	c.8063G>T	c.(8062-8064)aGc>aTc	p.S2688I	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2688					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAGAGCTTGCTGTCCTCTGC	0.552													23	170					1.22574e-08	1.41057e-08	1	0	A	6956666	C	A	6956666	3	1	61	1	0	0	0	0	1	0	0	0	8658	797	28	4	1196	4	LAMA1	18	6956666	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08		6956666	71120582	420	12211											
LAMA1	284217	broad.mit.edu	37	chr18	7038870	7038870	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgccaaagcagaagcactcgGagcagccccgggggtttttt	9	7	13	12	3	0	1	0	0	0	1	1	2	0	2	3	3	4	4	3	3	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:7038870G>C	ENST00000389658.3	-	11	1595	c.1502C>G	c.(1501-1503)tCc>tGc	p.S501C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	501	Laminin EGF-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGCACTCGGAGCAGCCCCG	0.537													105	365					0	0	0	0	C	7038870	G	C	7038870	3	2	61	1	0	0	0	0	1	0	0	0	8658	1174	41	2	7937	2	LAMA1	18	7038870	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	82204	7038870	71038378	421	12212											
CDH20	28316	broad.mit.edu	37	chr18	59221456	59221456	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttgtccatgaggcggcAccggaaacaaccatacatca	13	8	8	12	2	1	1	1	1	0	0	2	2	2	2	3	3	3	1	3	3	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:59221456A>C	ENST00000262717.4	+	12	2332	c.1934A>C	c.(1933-1935)cAc>cCc	p.H645P	CDH20_ENST00000536675.2_Missense_Mutation_p.H645P|CDH20_ENST00000538374.1_Missense_Mutation_p.H645P			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	645					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ATGAGGCGGCACCGGAAACAA	0.557													52	53					0	0	0	0	C	59221456	A	C	59221456	3	2	61	1	0	0	0	0	1	0	0	0	3135	159	6	5	1976	5	CDH20	18	59221456	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	52182586	59221456	18855792	422	12213											
SERPINB2	5055	broad.mit.edu	37	chr18	61569789	61569789	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaattgccgatgtgtccaCtggcttggagctggtaagac	9	11	13	8	1	0	2	0	1	0	1	1	4	1	3	2	3	2	3	2	3	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:61569789C>A	ENST00000457692.1	+	8	1163	c.830C>A	c.(829-831)aCt>aAt	p.T277N	SERPINB2_ENST00000299502.4_Missense_Mutation_p.T277N	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	277					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GATGTGTCCACTGGCTTGGAG	0.418													83	96					7.49063e-41	1.14331e-40	1	0	A	61569789	C	A	61569789	3	1	61	1	0	0	0	0	1	0	0	0	14188	565	20	4	852	4	SERPINB2	18	61569789	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	2348333	61569789	16507459	423	12214											
CDH19	28513	broad.mit.edu	37	chr18	64197182	64197182	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cttgcacatacagtgggatcGaagagatctgttctatattg	11	13	10	7	1	2	1	0	0	2	1	3	4	2	2	0	1	2	2	0	1	4	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:64197182G>C	ENST00000262150.2	-	9	1650	c.1358C>G	c.(1357-1359)tCg>tGg	p.S453W	CDH19_ENST00000540086.1_Missense_Mutation_p.S453W	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	453	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CAGTGGGATCGAAGAGATCTG	0.313													66	53					0	0	0	0	C	64197182	G	C	64197182	3	2	61	1	0	0	0	0	1	0	0	0	3133	1059	37	3	976	3	CDH19	18	64197182	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2627393	64197182	13880066	424	12215											
DSEL	92126	broad.mit.edu	37	chr18	65181244	65181244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttcctcagtaataaccCatattttttccaggtatttt	11	18	3	9	0	1	0	1	0	0	0	3	0	3	0	3	1	1	2	3	1	4	10			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:65181244C>G	ENST00000310045.7	-	2	2105	c.632G>C	c.(631-633)tGg>tCg	p.W211S	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	201						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGTAATAACCCATATTTTTTC	0.383													41	38					0	0	0	0	G	65181244	C	G	65181244	3	3	61	1	0	0	0	0	1	0	0	0	4811	595	21	4	3040	4	DSEL	18	65181244	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	984062	65181244	12896004	425	12216											
APC2	10297	broad.mit.edu	37	chr19	1455209	1455209	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctctggtactactctcagCtgcagggcctgtccaagcgc	7	9	11	14	1	2	0	1	0	2	0	4	0	3	0	2	2	6	4	2	2	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:1455209C>G	ENST00000535453.1	+	4	2188	c.475C>G	c.(475-477)Ctg>Gtg	p.L159V	APC2_ENST00000238483.4_Missense_Mutation_p.L159V|APC2_ENST00000233607.2_Missense_Mutation_p.L159V			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	159					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		CTACTCTCAGCTGCAGGGCCT	0.682													8	14					0	0	0	0	G	1455209	C	G	1455209	3	3	61	1	0	0	0	0	1	0	0	0	765	796	28	4	489	4	APC2	19	1455209	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08		1455209	57673774	426	12217											
TICAM1	148022	broad.mit.edu	37	chr19	4818041	4818041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggacggcttcctggtaggCcacgtcccgcagcgaggcgg	5	5	17	14	6	0	0	0	0	0	0	2	2	2	1	3	6	1	3	3	6	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:4818041C>T	ENST00000248244.5	-	2	578	c.349G>A	c.(349-351)Gcc>Acc	p.A117T		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	117					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	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)		TCCTGGTAGGCCACGTCCCGC	0.677													17	80					0	0	0	0	T	4818041	C	T	4818041	3	4	61	1	0	0	0	0	1	0	0	0	15986	739	26	4	1793	4	TICAM1	19	4818041	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	3362832	4818041	54310942	427	12218											
GTF2F1	2962	broad.mit.edu	37	chr19	6389458	6389458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgccccaccacttacttcCtgcctgatttgccgttgacc	6	11	6	18	2	0	2	0	2	0	0	1	2	1	2	8	0	3	1	8	0	1	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6389458C>A	ENST00000394456.5	-	4	787	c.323G>T	c.(322-324)aGg>aTg	p.R108M	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Missense_Mutation_p.R80M	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	108					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CACTTACTTCCTGCCTGATTT	0.612													85	119					4.869e-31	7.09553e-31	1	0	A	6389458	C	A	6389458	3	1	61	1	0	0	0	0	1	0	0	0	6908	681	24	4	1270	4	GTF2F1	19	6389458	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1571417	6389458	52739525	428	12219											
SLC25A41	284427	broad.mit.edu	37	chr19	6430127	6430127	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctcctggaccatgctctGtagcccccccagcaggttgg	5	8	11	17	0	1	0	0	0	1	0	2	1	2	1	6	3	3	4	6	3	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6430127G>C	ENST00000321510.6	-	3	477	c.409C>G	c.(409-411)Cag>Gag	p.Q137E		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	137					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						ACCATGCTCTGTAGCCCCCCC	0.617													15	16					0	0	0	0	C	6430127	G	C	6430127	3	2	61	1	0	0	0	0	1	0	0	0	14594	1386	48	4	723	4	SLC25A41	19	6430127	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	40669	6430127	52698856	429	12220											
C3	718	broad.mit.edu	37	chr19	6686812	6686812	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccttcagcctgcccatctgGgccagagcatagccagcaat	9	7	9	16	0	2	1	1	0	1	1	2	1	2	1	5	1	5	2	5	1	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6686812G>A	ENST00000245907.6	-	28	3683	c.3591C>T	c.(3589-3591)gcC>gcT	p.A1197A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1197					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGCCCATCTGGGCCAGAGCAT	0.542													132	196					0	0	0	0	A	6686812	G	A	6686812	2	1	61	1	0	0	0	0	0	0	0	1	2224	1219	43	4		4	C3	19	6686812	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	256685	6686812	52442171	430	12221											
C3	718	broad.mit.edu	37	chr19	6707204	6707204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggagatgaaacgggtccGgcgctggcacgagaacctca	11	4	15	11	4	1	3	1	1	0	2	2	5	2	3	2	4	2	2	2	4	2	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6707204G>C	ENST00000245907.6	-	17	2220	c.2128C>G	c.(2128-2130)Cgg>Ggg	p.R710G		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	710	Anaphylatoxin-like.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AAACGGGTCCGGCGCTGGCAC	0.657													13	53					0	0	0	0	C	6707204	G	C	6707204	3	2	61	1	0	0	0	0	1	0	0	0	2224	1115	39	3	2963	3	C3	19	6707204	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	20392	6707204	52421779	431	12222											
KEAP1	9817	broad.mit.edu	37	chr19	10610576	10610576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgcggttgccatgctggGagggcgtcacctccgccttg	4	9	16	12	3	1	0	1	0	0	0	2	1	2	1	4	4	3	2	4	4	0	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:10610576G>T	ENST00000171111.5	-	2	681	c.134C>A	c.(133-135)tCc>tAc	p.S45Y	KEAP1_ENST00000393623.2_Missense_Mutation_p.S45Y	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCCATGCTGGGAGGGCGTCAC	0.637													39	168					7.05121e-23	9.78398e-23	1	0	T	10610576	G	T	10610576	3	4	61	1	0	0	0	0	1	0	0	0	8193	1174	41	2	1760	2	KEAP1	19	10610576	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	3903372	10610576	48518407	432	12223											
SMARCA4	6597	broad.mit.edu	37	chr19	11144002	11144002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagcccaccgcatcgggCagcagaacgaggtgcgtgtg	9	4	15	13	5	0	1	0	0	0	1	1	3	0	1	3	2	4	3	3	2	1	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:11144002C>A	ENST00000358026.2	+	26	3867	c.3583C>A	c.(3583-3585)Cag>Aag	p.Q1195K	SMARCA4_ENST00000450717.3_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.Q1195K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1195	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGCATCGGGCAGCAGAACGA	0.612			"F, N, Mis"		NSCLC								27	107					6.32553e-13	7.87298e-13	1	0	A	11144002	C	A	11144002	3	1	61	1	0	0	0	0	1	0	0	0	14858	711	25	4	3681	4	SMARCA4	19	11144002	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	533426	11144002	47984981	433	12224											
LPHN1	22859	broad.mit.edu	37	chr19	14268735	14268735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagcgaagttggtgaggtGgctgcaggcacacgtggtat	9	8	16	8	2	0	1	0	1	0	0	0	2	0	1	0	5	2	5	0	5	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:14268735G>A	ENST00000340736.6	-	14	2806	c.2509C>T	c.(2509-2511)Cac>Tac	p.H837Y	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.H832Y	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	837	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGGTGAGGTGGCTGCAGGCA	0.607													29	72					0	0	0	0	A	14268735	G	A	14268735	3	1	61	1	0	0	0	0	1	0	0	0	8979	1348	47	4	1959	4	LPHN1	19	14268735	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	3124733	14268735	44860248	434	12225											
OR7A5	26659	broad.mit.edu	37	chr19	14938984	14938984	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcccaaagaggaagggttGcagtccaggttcttgtgaaa	12	8	13	8	0	1	2	0	1	1	1	2	3	2	3	2	3	2	3	2	3	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:14938984G>T	ENST00000322301.3	-	2	157	c.70C>A	c.(70-72)Caa>Aaa	p.Q24K	OR7A5_ENST00000594432.1_Missense_Mutation_p.Q24K|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						AGGAAGGGTTGCAGTCCAGGT	0.473													43	69					7.63091e-17	1.00134e-16	1	0	T	14938984	G	T	14938984	3	4	61	1	0	0	0	0	1	0	0	0	11287	1328	46	4	893	4	OR7A5	19	14938984	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	670249	14938984	44189999	435	12226											
NOTCH3	4854	broad.mit.edu	37	chr19	15299972	15299972	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcacctgcccaagtgctcGcaggggttggcgcctgccgg	5	6	15	15	4	0	0	0	0	0	0	1	0	0	0	4	4	3	4	4	4	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:15299972G>A	ENST00000263388.2	-	8	1281	c.1206C>T	c.(1204-1206)tgC>tgT	p.C402C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	402	EGF-like 10; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCAAGTGCTCGCAGGGGTTGG	0.652													19	65					0	0	0	0	A	15299972	G	A	15299972	2	1	61	1	0	0	0	0	0	0	0	1	10620	1079	38	1		1	NOTCH3	19	15299972	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	360988	15299972	43829011	436	12227											
OR10H1	26539	broad.mit.edu	37	chr19	15918353	15918353	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtgtccacagaaggcgagGtggaaaatggccgaggtcac	11	7	15	8	2	1	1	1	0	0	1	2	4	2	2	2	5	0	0	2	5	3	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:15918353G>A	ENST00000334920.2	-	1	583	c.495C>T	c.(493-495)caC>caT	p.H165H		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGAAGGCGAGGTGGAAAATGG	0.607													50	73					0	0	0	0	A	15918353	G	A	15918353	2	1	61	1	0	0	0	0	0	0	0	1	10976	1252	44	4		4	OR10H1	19	15918353	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	618381	15918353	43210630	437	12228											
CYP4F2	8529	broad.mit.edu	37	chr19	16001226	16001226	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcactaccctctgaggcCaggagctgccacttggccta	8	7	11	15	0	1	1	0	1	1	0	1	2	1	2	4	4	3	2	4	4	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:16001226C>T	ENST00000221700.5	-	6	638	c.543G>A	c.(541-543)ctG>ctA	p.L181L	CYP4F2_ENST00000011989.7_Silent_p.L32L|CYP4F2_ENST00000592328.1_Silent_p.L181L	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	181					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCTCTGAGGCCAGGAGCTGCC	0.557													30	32					0	0	0	0	T	16001226	C	T	16001226	2	4	61	1	0	0	0	0	0	0	0	1	4220	581	21	4		4	CYP4F2	19	16001226	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	82873	16001226	43127757	438	12229											
CPAMD8	27151	broad.mit.edu	37	chr19	17040011	17040011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggccgctgcacatacTggaactcatacttgttgggg	8	10	13	10	1	1	0	1	0	0	0	1	1	1	1	1	4	4	4	1	4	3	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:17040011T>C	ENST00000443236.1	-	24	3057	c.3026A>G	c.(3025-3027)cAg>cGg	p.Q1009R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	962						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTGCACATACTGGAACTCATA	0.587													18	60					0	0	0	0	C	17040011	T	C	17040011	3	2	61	1	0	0	0	0	1	0	0	0	3825	1580	55	5	2848	5	CPAMD8	19	17040011	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	1038785	17040011	42088972	439	12230											
KIAA1683	80726	broad.mit.edu	37	chr19	18368706	18368706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagccggatcctgcgacGcgccaggtagccacggacgc	8	3	13	17	6	0	0	0	0	0	0	1	3	1	2	5	3	3	1	5	3	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:18368706G>A	ENST00000392413.3	-	4	3603	c.3388C>T	c.(3388-3390)Cgt>Tgt	p.R1130C	KIAA1683_ENST00000600328.2_Missense_Mutation_p.R943C|KIAA1683_ENST00000600359.2_Missense_Mutation_p.R897C	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	1130	IQ 5.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCCTGCGACGCGCCAGGTAG	0.672													50	71					0	0	0	0	A	18368706	G	A	18368706	3	1	61	1	0	0	0	0	1	0	0	0	8302	1087	38	1	719	1	KIAA1683	19	18368706	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1328695	18368706	40760277	440	12231											
ZNF99	7652	broad.mit.edu	37	chr19	22940817	22940817	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttctaagggttgaggactGgctaaaagctttgccacatt	10	14	10	7	0	1	1	0	1	1	0	1	2	1	2	1	3	2	3	1	3	3	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:22940817G>A	ENST00000397104.3	-	5	1620	c.1621C>T	c.(1621-1623)Cag>Tag	p.Q541*	ZNF99_ENST00000596209.1_Nonsense_Mutation_p.Q632*					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTGAGGACTGGCTAAAAGCT	0.388													38	69					0	0	0	0	A	22940817	G	A	22940817	4	1	61	1	0	0	0	0	0	1	0	0	18297	1357	47	4	1503	4	ZNF99	19	22940817	Nonsense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	4572111	22940817	36188166	441	12232											
ANKRD27	84079	broad.mit.edu	37	chr19	33117730	33117730	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcgatgagggatgccTgccctgcagagcagaaggac	10	5	17	9	1	0	3	0	1	0	2	1	7	0	6	2	4	4	2	2	4	1	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:33117730T>G	ENST00000306065.4	-	16	1582	c.1424A>C	c.(1423-1425)cAg>cCg	p.Q475P		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	475					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGGGATGCCTGCCCTGCAGA	0.567													9	14					0	0	0	0	G	33117730	T	G	33117730	3	3	61	1	0	0	0	0	1	0	0	0	655	1580	55	5	1784	5	ANKRD27	19	33117730	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	10176913	33117730	26011253	442	12233											
NPHS1	4868	broad.mit.edu	37	chr19	36321757	36321757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttctcaccatctgcacttCatcgtagaggggtccccagg	7	10	10	14	1	3	1	2	0	2	1	6	1	4	1	3	3	1	3	3	3	1	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:36321757C>T	ENST00000378910.5	-	28	3582	c.3583G>A	c.(3583-3585)Gaa>Aaa	p.E1195K	NPHS1_ENST00000353632.6_Missense_Mutation_p.E1155K	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1195	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCTGCACTTCATCGTAGAGG	0.527													51	187					0	0	0	0	T	36321757	C	T	36321757	3	4	61	1	0	0	0	0	1	0	0	0	10652	835	29	2	150	2	NPHS1	19	36321757	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	3204027	36321757	22807226	443	12234											
PLEKHG2	64857	broad.mit.edu	37	chr19	39915308	39915308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagggtccagcggctgcaCctccacttccggagccaagc	7	6	11	17	2	0	0	0	0	0	0	4	1	4	1	6	3	4	2	6	3	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:39915308C>T	ENST00000425673.1	+	17	3773	c.3448C>T	c.(3448-3450)Cct>Tct	p.P1150S	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P1120S|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P1179S			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1179	Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGCGGCTGCACCTCCACTTCC	0.572													41	233					0	0	0	0	T	39915308	C	T	39915308	3	4	61	1	0	0	0	0	1	0	0	0	12141	507	18	4	3605	4	PLEKHG2	19	39915308	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	3593551	39915308	19213675	444	12235											
FCGBP	8857	broad.mit.edu	37	chr19	40362807	40362807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggctgcggcacaggaagGctttgtcacccttttgcgcg	6	9	13	13	3	1	0	1	0	0	0	1	1	1	1	2	4	2	3	2	4	1	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:40362807G>T	ENST00000221347.6	-	32	15270	c.15263C>A	c.(15262-15264)gCc>gAc	p.A5088D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5088						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCACAGGAAGGCTTTGTCACC	0.652													79	117					2.67039e-37	4.01251e-37	1	0	T	40362807	G	T	40362807	3	4	61	1	0	0	0	0	1	0	0	0	5823	1203	42	4	974	4	FCGBP	19	40362807	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	447499	40362807	18766176	445	12236											
SPTBN4	57731	broad.mit.edu	37	chr19	41009736	41009736	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctggctcactgccccaGgacaactttgggtatgagct	7	11	12	11	0	2	1	1	1	1	0	2	2	2	2	2	3	3	3	2	3	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:41009736G>T	ENST00000352632.3	+	12	1448		c.e12-1		SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACTGCCCCAGGACAACTTTG	0.602													8	18					0.00307968	0.00323004	1	0	T	41009736	G	T	41009736	5	4	61	1	0	0	0	0	0	0	1	0	15211	1014	35	4	1404	4	SPTBN4	19	41009736	Splice_Site	SNP	G	TCGA-CN-4727-01A-01D-1434-08	646929	41009736	18119247	446	12237											
PSG8	440533	broad.mit.edu	37	chr19	43268276	43268276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgtaatgtaatggtagagGtccctgatttgccctttgta	9	15	11	6	0	0	2	0	1	0	1	1	3	1	2	2	2	1	4	2	2	4	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:43268276G>T	ENST00000404209.4	-	2	318	c.222C>A	c.(220-222)gaC>gaA	p.D74E	PSG8_ENST00000306511.4_Missense_Mutation_p.D74E|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.D74E	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	74	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AATGGTAGAGGTCCCTGATTT	0.423													201	607					8.44433e-94	1.32729e-93	1	0	T	43268276	G	T	43268276	3	4	61	1	0	0	0	0	1	0	0	0	12740	1252	44	4	1095	4	PSG8	19	43268276	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	2258540	43268276	15860707	447	12238											
ZNF224	7767	broad.mit.edu	37	chr19	44610618	44610618	+	Frame_Shift_Del	DEL	A	A	-																															tcaagagtggtccttccagcAaatctgggaaaaaattgcaa																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:44610618delA	ENST00000336976.6	+	6	559	c.305delA	c.(304-306)cafs	p.Q102fs	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	102					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TCCTTCCAGCAAATCTGGGAA	0.418													44	75	---	---	---	---					-	44610618	A	-	44610618	7	5	61	1	0	1	0	1	0	0	0	0	17873	130	5	0	319	0	ZNF224	19	44610618	Frame_Shift_Del	DEL	A	TCGA-CN-4727-01A-01D-1434-08	1342342	44610618	14518365	448	12239											
SIX5	147912	broad.mit.edu	37	chr19	46268861	46268861	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccccctgcggtggccccCaggagcagcccctcagggtc	5	5	12	19	1	2	0	2	0	0	0	3	1	2	1	6	4	3	1	6	4	0	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:46268861C>A	ENST00000317578.6	-	3	2499	c.2118G>T	c.(2116-2118)ctG>ctT	p.L706L	AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN	SIX homeobox 5	706						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CGGTGGCCCCCAGGAGCAGCC	0.672													67	109					9.07738e-34	1.33966e-33	1	0	A	46268861	C	A	46268861	2	1	61	1	0	0	0	0	0	0	0	1	14438	581	21	4		4	SIX5	19	46268861	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1658243	46268861	12860122	449	12240											
GLTSCR1	29998	broad.mit.edu	37	chr19	48176835	48176835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caccccatccagtggcgatgGatgatgaggatgggagatgc	10	7	15	9	1	0	3	0	2	0	1	1	7	1	5	3	4	1	0	3	4	0	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:48176835G>A	ENST00000396720.3	+	3	198	c.4G>A	c.(4-6)Gat>Aat	p.D2N	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	2							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		AGTGGCGATGGATGATGAGGA	0.622													32	124					0	0	0	0	A	48176835	G	A	48176835	3	1	61	1	0	0	0	0	1	0	0	0	6525	1174	41	2	6	2	GLTSCR1	19	48176835	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1907974	48176835	10952148	450	12241											
FPR2	2358	broad.mit.edu	37	chr19	52272482	52272482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcacccctgaggagaggCtgaaggtggccattaccatg	9	7	15	10	0	0	3	0	2	0	1	0	4	0	3	4	5	1	2	4	5	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:52272482C>A	ENST00000598776.1	+	2	1343	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	FPR2_ENST00000598953.1_Missense_Mutation_p.L191M|FPR2_ENST00000340023.6_Missense_Mutation_p.L191M	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	191					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGAGGAGAGGCTGAAGGTGGC	0.488													20	137					1.15919e-05	1.2614e-05	1	0	A	52272482	C	A	52272482	3	1	61	1	0	0	0	0	1	0	0	0	6086	796	28	4	573	4	FPR2	19	52272482	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	4095647	52272482	6856501	451	12242											
NLRP8	126205	broad.mit.edu	37	chr19	56466176	56466176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaagaggtgaaccagaCgacagaccagagcttctccg	12	6	11	12	2	1	5	0	1	1	4	2	6	1	5	4	1	3	1	4	1	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:56466176C>T	ENST00000291971.3	+	3	823	c.752C>T	c.(751-753)aCg>aTg	p.T251M	NLRP8_ENST00000590542.1_Missense_Mutation_p.T251M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	251	NACHT.					cytoplasm	ATP binding	p.T251M(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGAACCAGACGACAGACCAG	0.512													49	210					0	0	0	0	T	56466176	C	T	56466176	3	4	61	1	0	0	0	0	1	0	0	0	10553	536	19	1	762	1	NLRP8	19	56466176	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	4193694	56466176	2662807	452	12243											
ZNF835	90485	broad.mit.edu	37	chr19	57176029	57176029	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgccagtgggacgccaggtAcgagccctggctgaaggcct	7	5	16	13	3	0	1	0	1	0	0	0	3	0	2	4	4	2	2	4	4	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57176029A>T	ENST00000537055.2	-	2	769	c.538T>A	c.(538-540)Tac>Aac	p.Y180N		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GACGCCAGGTACGAGCCCTGG	0.706													7	6					0	0	0	0	T	57176029	A	T	57176029	3	4	61	1	0	0	0	0	1	0	0	0	18279	391	14	5	1077	5	ZNF835	19	57176029	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	709853	57176029	1952954	453	12244											
PEG3	5178	broad.mit.edu	37	chr19	57327145	57327145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagagtcttcatagttgcGattcttactgcccccttcac	8	13	7	13	1	4	1	2	0	2	1	4	3	4	1	2	0	3	1	2	0	2	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57327145G>T	ENST00000326441.9	-	10	3028	c.2665C>A	c.(2665-2667)Cgc>Agc	p.R889S	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R889S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R765S|PEG3_ENST00000593695.1_Missense_Mutation_p.R763S|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	889					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCATAGTTGCGATTCTTACTG	0.443													26	128					3.7963e-18	5.08512e-18	1	0	T	57327145	G	T	57327145	3	4	61	1	0	0	0	0	1	0	0	0	11791	1058	37	3	2105	3	PEG3	19	57327145	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	151116	57327145	1801838	454	12245											
USP29	57663	broad.mit.edu	37	chr19	57642105	57642105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttcaagaggtgcctcaaCatccagaacttcagaagtat	14	10	7	10	0	4	3	3	0	1	3	5	3	5	3	2	1	3	1	2	1	5	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57642105C>A	ENST00000254181.4	+	4	2516	c.2062C>A	c.(2062-2064)Cat>Aat	p.H688N	USP29_ENST00000598197.1_Missense_Mutation_p.H688N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	688					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTGCCTCAACATCCAGAACT	0.433													15	58					7.93312e-07	8.71441e-07	1	0	A	57642105	C	A	57642105	3	1	61	1	0	0	0	0	1	0	0	0	17155	478	17	4	2064	4	USP29	19	57642105	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	314960	57642105	1486878	455	12246											
ZNF460	10794	broad.mit.edu	37	chr19	57803285	57803285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggaaagccttttgtcGgaccacaaacctgattcgac	11	10	10	10	2	0	1	0	1	0	0	2	4	0	3	3	2	2	0	3	2	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57803285G>T	ENST00000360338.3	+	3	1698	c.1376G>T	c.(1375-1377)cGg>cTg	p.R459L	ZNF460_ENST00000537645.1_Missense_Mutation_p.R418L	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCCTTTTGTCGGACCACAAAC	0.527													21	98					3.8784e-16	4.99883e-16	1	0	T	57803285	G	T	57803285	3	4	61	1	0	0	0	0	1	0	0	0	18019	1116	39	3	1386	3	ZNF460	19	57803285	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	161180	57803285	1325698	456	12247											
NRSN2	80023	broad.mit.edu	37	chr20	330327	330327	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgcagctgcagccgcGgccccagcgtggaggatggc	5	6	16	14	3	0	0	0	0	0	0	1	2	1	2	4	4	5	4	4	4	0	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:330327G>T	ENST00000382291.3	+	3	280	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C	NRSN2_ENST00000382285.2_Missense_Mutation_p.G14C|NRSN2_ENST00000492242.1_Intron	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	14						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CTGCAGCCGCGGCCCCAGCGT	0.632													27	48					3.93418e-24	5.55189e-24	1	0	T	330327	G	T	330327	3	4	61	1	0	0	0	0	1	0	0	0	10734	1116	39	3	42	3	NRSN2	20	330327	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08		330327	62695193	457	12248											
SIRPB1	10326	broad.mit.edu	37	chr20	1552462	1552462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttgagagtgaacgtcccCacgggtcagcaccaccctgg	9	6	12	14	2	1	2	1	2	0	1	2	4	2	2	4	2	2	1	4	2	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:1552462C>T	ENST00000381605.4	-	3	719	c.655G>A	c.(655-657)Ggg>Agg	p.G219R	SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	219	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGAACGTCCCCACGGGTCAGC	0.582													63	131					0	0	0	0	T	1552462	C	T	1552462	3	4	61	1	0	0	0	0	1	0	0	0	14421	594	21	4	553	4	SIRPB1	20	1552462	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	1222135	1552462	61473058	458	12249											
PDYN	5173	broad.mit.edu	37	chr20	1961152	1961152	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcccatgctatccccGtccccctccccagccacctc	5	8	5	23	1	1	0	1	0	0	0	5	0	4	0	9	1	2	1	9	1	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:1961152G>A	ENST00000217305.2	-	4	807	c.582C>T	c.(580-582)gaC>gaT	p.D194D	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Silent_p.D194D|PDYN_ENST00000540134.1_Silent_p.D194D	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	194					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.D194E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCTATCCCCGTCCCCCTCCC	0.592													93	158					0	0	0	0	A	1961152	G	A	1961152	2	1	61	1	0	0	0	0	0	0	0	1	11770	1136	40	1		1	PDYN	20	1961152	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	408690	1961152	61064368	459	12250											
PAK7	57144	broad.mit.edu	37	chr20	9561465	9561465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggctccctgatctggggtgGgtgggctttctttccttagg	3	14	15	9	0	2	1	0	1	2	0	4	1	4	1	2	6	0	2	2	6	1	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:9561465G>A	ENST00000378429.3	-	5	863	c.317C>T	c.(316-318)cCc>cTc	p.P106L	PAK7_ENST00000378423.1_Missense_Mutation_p.P106L|PAK7_ENST00000353224.5_Missense_Mutation_p.P106L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	106	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCTGGGGTGGGTGGGCTTTC	0.542													127	185					0	0	0	0	A	9561465	G	A	9561465	3	1	61	1	0	0	0	0	1	0	0	0	11476	1232	43	4	1870	4	PAK7	20	9561465	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	7600313	9561465	53464055	460	12251											
MAFB	9935	broad.mit.edu	37	chr20	39317053	39317053	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgggccacgccggcgccCgggtacgcgtggtgcgggtg	2	6	20	13	8	0	0	0	0	0	0	1	0	0	0	3	5	2	1	3	5	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:39317053C>A	ENST00000373313.2	-	1	827	c.438G>T	c.(436-438)ccG>ccT	p.P146P	MAFB_ENST00000396967.1_Silent_p.P146P	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	146					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CGCCGGCGCCCGGGTACGCgt	0.716			T	IGH@	MM								13	14					2.62699e-14	3.31951e-14	1	0	A	39317053	C	A	39317053	2	1	61	1	0	0	0	0	0	0	0	1	9223	639	23	3		3	MAFB	20	39317053	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	29755588	39317053	23708467	461	12252											
ZNF831	128611	broad.mit.edu	37	chr20	57767409	57767409	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatcgacctgcccacgccCtacacctacaaggactcctt	10	7	6	18	2	0	0	0	0	0	0	2	2	1	1	5	1	4	1	5	1	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:57767409C>A	ENST00000371030.2	+	1	1335	c.1335C>A	c.(1333-1335)ccC>ccA	p.P445P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	445						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCCCACGCCCTACACCTACA	0.682													15	71					7.93312e-07	8.71441e-07	1	0	A	57767409	C	A	57767409	2	1	61	1	0	0	0	0	0	0	0	1	18278	668	24	4		4	ZNF831	20	57767409	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	18450356	57767409	5258111	462	12253											
LAMA5	3911	broad.mit.edu	37	chr20	60905980	60905980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggggcggctttgggaagCgcgagggcagacaggcggca	7	4	21	9	4	0	1	0	0	0	1	0	3	0	2	0	7	1	4	0	7	1	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:60905980C>G	ENST00000252999.3	-	30	3737	c.3671G>C	c.(3670-3672)cGc>cCc	p.R1224P		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1224	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTTGGGAAGCGCGAGGGCAG	0.721													2	5					0	0	0	0	G	60905980	C	G	60905980	3	3	61	1	0	0	0	0	1	0	0	0	8662	768	27	3	7620	3	LAMA5	20	60905980	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	3138571	60905980	2119540	463	12254											
TPTE	7179	broad.mit.edu	37	chr21	10944708	10944708	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaatgtcaaaaaaaatgtAaacgacatcaaccagcagaa	21	7	5	8	1	2	1	2	0	0	1	2	2	2	1	1	0	3	2	1	0	9	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:10944708A>G	ENST00000298232.7	-	10	839	c.472T>C	c.(472-474)Tac>Cac	p.Y158H	TPTE_ENST00000342420.5_Missense_Mutation_p.Y138H|TPTE_ENST00000361285.4_Missense_Mutation_p.Y176H|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	176					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAAAAATGTAAACGACATCA	0.294													27	308					0	0	0	0	G	10944708	A	G	10944708	3	3	61	1	0	0	0	0	1	0	0	0	16525	362	13	5	1185	5	TPTE	21	10944708	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08		10944708	37185187	464	12255											
HSPA13	6782	broad.mit.edu	37	chr21	15748099	15748099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggagaccataggccatagCtgctgctgtgggttcattta	8	12	13	8	0	1	1	1	0	0	1	1	2	1	1	2	3	3	4	2	3	3	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:15748099C>A	ENST00000285667.3	-	4	689	c.622G>T	c.(622-624)Gct>Tct	p.A208S	HSPA13_ENST00000544452.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	208						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TAGGCCATAGCTGCTGCTGTG	0.443													50	94					1.63038e-21	2.23023e-21	1	0	A	15748099	C	A	15748099	3	1	61	1	0	0	0	0	1	0	0	0	7458	797	28	4	801	4	HSPA13	21	15748099	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	4803391	15748099	32381796	465	12256											
SAMSN1	64092	broad.mit.edu	37	chr21	15870888	15870888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctagagtctcataaccaTtgagcaaaagtgttgaggtg	12	12	10	7	0	2	3	1	2	2	1	3	3	2	3	1	1	2	2	1	1	4	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:15870888T>C	ENST00000285670.2	-	8	1172	c.998A>G	c.(997-999)aAt>aGt	p.N333S	SAMSN1_ENST00000400564.1_Missense_Mutation_p.N97S|SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400566.1_Missense_Mutation_p.N265S	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	265					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTCATAACCATTGAGCAAAAG	0.284													35	101					0	0	0	0	C	15870888	T	C	15870888	3	2	61	1	0	0	0	0	1	0	0	0	13915	1493	52	5	335	5	SAMSN1	21	15870888	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	122789	15870888	32259007	466	12257											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338240	28338240	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagcgcgcgtgcttgacCgcgaagaagccgtcgagacc	8	6	15	12	7	0	3	0	1	0	2	1	5	0	3	3	0	3	2	3	0	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:28338240C>A	ENST00000284987.5	-	1	592	c.471G>T	c.(469-471)gcG>gcT	p.A157A		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	157					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGTGCTTGACCGCGAAGAAGC	0.662													9	44					0.00448238	0.00469275	1	0	A	28338240	C	A	28338240	2	1	61	1	0	0	0	0	0	0	0	1	269	639	23	3		3	ADAMTS5	21	28338240	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	12467352	28338240	19791655	467	12258											
RWDD2B	10069	broad.mit.edu	37	chr21	30391545	30391545	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactcaccttgagccgtggcCccctcactgctgtaacccgg	6	8	10	17	2	2	1	2	1	0	0	2	2	2	1	5	2	3	2	5	2	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:30391545C>T	ENST00000493196.1	-	1	154	c.54G>A	c.(52-54)ggG>ggA	p.G18G	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	18										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						GAGCCGTGGCCCCCTCACTGC	0.582													4	9					0	0	0	0	T	30391545	C	T	30391545	2	4	61	1	0	0	0	0	0	0	0	1	13841	610	22	4		4	RWDD2B	21	30391545	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	2053305	30391545	17738350	468	12259											
KRTAP21-1	337977	broad.mit.edu	37	chr21	32127484	32127484	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaatagcatcttctaaaGcaaaatggccggtagccaca	16	7	9	9	1	2	1	0	0	2	1	2	2	2	1	2	2	3	3	2	2	8	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:32127484G>T	ENST00000335093.3	-	1	262	c.213C>A	c.(211-213)tgC>tgA	p.C71*		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	71						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						ATCTTCTAAAGCAAAATGGCC	0.468													37	205					2.48696e-23	3.47575e-23	1	0	T	32127484	G	T	32127484	4	4	61	1	0	0	0	0	0	1	0	0	8590	963	34	4	28	4	KRTAP21-1	21	32127484	Nonsense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1735939	32127484	16002411	469	12260											
DSCAM	1826	broad.mit.edu	37	chr21	41516604	41516604	+	Frame_Shift_Del	DEL	G	G	-																															acccccagtgctgtactctcGgtaacctatttggtagccac																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:41516604delG	ENST00000400454.1	-	17	3550	c.3073delC	c.(3073-3075)gafs	p.R1025fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1025	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGTACTCTCGGTAACCTATT	0.453													39	82	---	---	---	---					-	41516604	G	-	41516604	7	5	61	1	0	1	0	1	0	0	0	0	4804	1124	39	0	3033	0	DSCAM	21	41516604	Frame_Shift_Del	DEL	G	TCGA-CN-4727-01A-01D-1434-08	9389120	41516604	6613291	470	12261											
GAB4	128954	broad.mit.edu	37	chr22	17451084	17451084	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggagaagctggcactcCtaagagagagaaagaaggga	15	4	15	7	0	0	4	0	0	0	4	1	8	1	5	2	3	1	2	2	3	4	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:17451084C>G	ENST00000400588.1	-	4	794		c.e4-1		GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4											breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCTGGCACTCCTAAGAGAGAG	0.557													24	82					0	0	0	0	G	17451084	C	G	17451084	5	3	61	1	0	0	0	0	0	0	1	0	6199	695	24	4	1066	4	GAB4	22	17451084	Splice_Site	SNP	C	TCGA-CN-4727-01A-01D-1434-08		17451084	33853482	471	12262											
DGCR14	8220	broad.mit.edu	37	chr22	19127505	19127505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacatctaggctgggcaGcggctccttctcctcctcct	6	10	10	15	1	2	1	0	0	2	1	6	2	5	1	4	3	1	3	4	3	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:19127505G>A	ENST00000252137.6	-	4	476	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	145					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					AGGCTGGGCAGCGGCTCCTTC	0.612													85	131					0	0	0	0	A	19127505	G	A	19127505	2	1	61	1	0	0	0	0	0	0	0	1	4497	962	34	4		4	DGCR14	22	19127505	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	1676421	19127505	32177061	472	12263											
FBXO7	25793	broad.mit.edu	37	chr22	32889195	32889195	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgtcttgtctttgtctgcGgtttgtcgtgacctctttac	2	19	9	11	3	4	1	0	1	4	0	6	1	5	1	2	1	2	1	2	1	1	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:32889195G>C	ENST00000266087.7	+	7	1398	c.1071G>C	c.(1069-1071)gcG>gcC	p.A357A	FBXO7_ENST00000397426.1_Silent_p.A243A|FBXO7_ENST00000382058.3_Silent_p.A278A	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	357	F-box.				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTTGTCTGCGGTTTGTCGTG	0.448													89	187					0	0	0	0	C	32889195	G	C	32889195	2	2	61	1	0	0	0	0	0	0	0	1	5805	1103	39	3		3	FBXO7	22	32889195	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	13761690	32889195	18415371	473	12264											
NCF4	4689	broad.mit.edu	37	chr22	37266473	37266473	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagcctgctcagcctgcCggtctgggtgctgatggatg	6	9	15	11	1	2	2	1	1	1	1	2	3	2	3	3	3	5	2	3	3	0	0			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:37266473C>G	ENST00000397147.4	+	5	543	c.359C>G	c.(358-360)cCg>cGg	p.P120R	NCF4_ENST00000248899.6_Missense_Mutation_p.P120R|CTA-833B7.2_ENST00000330602.2_RNA	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	120	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CTCAGCCTGCCGGTCTGGGTG	0.642													30	89					0	0	0	0	G	37266473	C	G	37266473	3	3	61	1	0	0	0	0	1	0	0	0	10288	652	23	3	377	3	NCF4	22	37266473	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	4377278	37266473	14038093	474	12265											
SMC1B	27127	broad.mit.edu	37	chr22	45779421	45779421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcccagcatctagcctTgtattttaagtcacttgacc	9	14	5	13	0	3	1	2	1	1	0	4	1	4	1	3	0	2	2	3	0	3	6			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:45779421T>C	ENST00000357450.4	-	12	1983	c.1984A>G	c.(1984-1986)Aag>Gag	p.K662E	SMC1B_ENST00000404354.3_Missense_Mutation_p.K662E	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	662	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CATCTAGCCTTGTATTTTAAG	0.363													67	108					0	0	0	0	C	45779421	T	C	45779421	3	2	61	1	0	0	0	0	1	0	0	0	14870	1821	63	5	1779	5	SMC1B	22	45779421	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	8512948	45779421	5525145	475	12266											
MOV10L1	54456	broad.mit.edu	37	chr22	50552123	50552123	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcatttctatggaacgattTtgctgaagaacaaaggtgat	13	13	9	6	1	2	3	1	2	1	1	2	5	2	4	0	2	3	1	0	2	5	4			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:50552123T>G	ENST00000262794.5	+	6	873	c.790T>G	c.(790-792)Ttg>Gtg	p.L264V	MOV10L1_ENST00000395858.3_Missense_Mutation_p.L264V|MOV10L1_ENST00000545383.1_Missense_Mutation_p.L264V|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.L244V	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	264					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGGAACGATTTTGCTGAAGAA	0.473													47	115					0	0	0	0	G	50552123	T	G	50552123	3	3	61	1	0	0	0	0	1	0	0	0	9789	1838	64	5	853	5	MOV10L1	22	50552123	Missense_Mutation	SNP	T	TCGA-CN-4727-01A-01D-1434-08	4772702	50552123	752443	476	12267											
DDX53	168400	broad.mit.edu	37	chrX	23019337	23019337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggatatggaatttgaacCccagataaggaagattttat	14	12	10	5	0	0	3	0	1	0	2	0	6	0	6	2	3	1	1	2	3	6	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:23019337C>T	ENST00000327968.5	+	1	1251	c.1163C>T	c.(1162-1164)cCc>cTc	p.P388L	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	388	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GAATTTGAACCCCAGATAAGG	0.403													44	84					0	0	0	0	T	23019337	C	T	23019337	3	4	61	1	0	0	0	0	1	0	0	0	4403	623	22	4	1165	4	DDX53	23	23019337	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08		23019337	132251223	477	12268											
MAGEB18	286514	broad.mit.edu	37	chrX	26157130	26157130	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcagaagagtaagctcCgtgcccgtgagaaacgccac	12	5	13	11	3	1	3	1	1	0	3	2	5	2	3	3	1	3	2	3	1	3	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:26157130C>A	ENST00000325250.1	+	2	215	c.28C>A	c.(28-30)Cgt>Agt	p.R10S		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	10							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GAGTAAGCTCCGTGCCCGTGA	0.542													8	8					5.4927e-09	6.35882e-09	1	0	A	26157130	C	A	26157130	3	1	61	1	0	0	0	0	1	0	0	0	9244	652	23	3	30	3	MAGEB18	23	26157130	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	3137793	26157130	129113430	478	12269											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29938141	29938141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtggaagaaggtgacttGggaaattactcctgttatgt	10	14	12	5	0	1	2	0	1	1	1	2	4	2	4	1	3	1	1	1	3	5	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:29938141G>T	ENST00000378993.1	+	8	1660	c.987G>T	c.(985-987)ttG>ttT	p.L329F	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L329F	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	329	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AAGGTGACTTGGGAAATTACT	0.418													48	38					1.61863e-15	2.07241e-15	1	0	T	29938141	G	T	29938141	3	4	61	1	0	0	0	0	1	0	0	0	7714	1339	47	4	1013	4	IL1RAPL1	23	29938141	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	3781011	29938141	125332419	479	12270											
NR0B1	190	broad.mit.edu	37	chrX	30326412	30326412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacttgatggcttggacctGggaggcggagggcaccttcc	6	8	16	11	1	0	1	0	1	0	0	1	4	1	4	3	6	0	3	3	6	0	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:30326412G>T	ENST00000378970.4	-	1	1303	c.1069C>A	c.(1069-1071)Cag>Aag	p.Q357K	NR0B1_ENST00000453287.1_Missense_Mutation_p.Q357K|NR0B1_ENST00000378963.1_Missense_Mutation_p.Q62K	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	357	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCTTGGACCTGGGAGGCGGAG	0.637											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	26					2.70639e-06	2.95614e-06	1	0	T	30326412	G	T	30326412	3	4	61	1	0	0	0	0	1	0	0	0	10684	1357	47	4	351	4	NR0B1	23	30326412	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	388271	30326412	124944148	480	12271											
ELK1	2002	broad.mit.edu	37	chrX	47497248	47497248	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccgttcgggtcccggccCacctagcaggctcgggctga	4	7	15	15	4	0	1	0	1	0	0	4	1	2	1	4	5	1	4	4	5	1	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:47497248C>A	ENST00000247161.3	-	4	1087	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.G276W|ELK1_ENST00000376983.3_Missense_Mutation_p.G330W	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	330					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GGTCCCGGCCCACCTAGCAGG	0.701													3	2					0.004672	0.00486492	1	0	A	47497248	C	A	47497248	3	1	61	1	0	0	0	0	1	0	0	0	5097	594	21	4	310	4	ELK1	23	47497248	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	17170836	47497248	107773312	481	12272											
NUDT11	55190	broad.mit.edu	37	chrX	51239212	51239212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacaggacctcgtcctcgcGttcgctccggaagcacaggc	8	7	11	15	5	0	0	0	0	0	0	5	2	2	2	3	3	2	3	3	3	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:51239212G>T	ENST00000375992.3	-	1	236	c.85C>A	c.(85-87)Cgc>Agc	p.R29S		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	29	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TCGTCCTCGCGTTCGCTCCGG	0.692										HNSCC(48;0.14)			5	3					0.184627	0.186557	1	0	T	51239212	G	T	51239212	3	4	61	1	0	0	0	0	1	0	0	0	10798	1145	40	3	417	3	NUDT11	23	51239212	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	3741964	51239212	104031348	482	12273											
GSPT2	23708	broad.mit.edu	37	chrX	51488354	51488354	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttataatgcggtgctgcaCattcatacttgtattgagga	10	14	11	6	1	1	1	1	1	0	0	1	2	1	2	0	3	4	4	0	3	4	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:51488354C>A	ENST00000340438.4	+	1	1874	c.1632C>A	c.(1630-1632)caC>caA	p.H544Q		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	544					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CGGTGCTGCACATTCATACTT	0.423													47	47					2.01872e-29	2.90535e-29	1	0	A	51488354	C	A	51488354	3	1	61	1	0	0	0	0	1	0	0	0	6877	477	17	4	1634	4	GSPT2	23	51488354	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	249142	51488354	103782206	483	12274											
KLF8	11279	broad.mit.edu	37	chrX	56296753	56296753	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccgcagaatccatacAggtctgcccactcccatctc	9	8	6	18	1	3	1	1	0	2	1	6	1	5	1	4	1	2	2	4	1	2	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:56296753A>T	ENST00000468660.1	+	5	1185	c.898_splice	c.e5+1	p.T299_splice	KLF8_ENST00000374928.3_Intron	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GAATCCATACAGGTCTGCCCA	0.512													9	6					0	0	0	0	T	56296753	A	T	56296753	5	4	61	1	0	0	0	0	0	0	1	0	8404	202	7	5	915	5	KLF8	23	56296753	Splice_Site	SNP	A	TCGA-CN-4727-01A-01D-1434-08	4808399	56296753	98973807	484	12275											
CYLC1	1538	broad.mit.edu	37	chrX	83128538	83128538	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactcacagaataattcaaaGaattattctttgaagtatac	17	14	4	6	0	3	3	2	1	1	2	3	3	3	3	0	0	2	1	0	0	9	8	rs148140928		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:83128538G>A	ENST00000329312.4	+	4	859	c.822G>A	c.(820-822)aaG>aaA	p.K274K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	274					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATAATTCAAAGAATTATTCTT	0.318													6	17					0	0	0	0	A	83128538	G	A	83128538	2	1	61	1	0	0	0	0	0	0	0	1	4173	933	33	2		2	CYLC1	23	83128538	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	26831785	83128538	72142022	485	12276											
RPS6KA6	27330	broad.mit.edu	37	chrX	83351277	83351277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcctatacgcagcagtatCtcttcaggagtatcattggg	9	13	10	9	1	3	0	2	0	1	0	4	1	3	1	1	2	3	4	1	2	4	7			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:83351277C>T	ENST00000262752.2	-	20	1903	c.1896G>A	c.(1894-1896)gaG>gaA	p.E632E	RPS6KA6_ENST00000543399.1_Silent_p.E632E|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	632	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GCAGCAGTATCTCTTCAGGAG	0.358													21	20					0	0	0	0	T	83351277	C	T	83351277	2	4	61	1	0	0	0	0	0	0	0	1	13740	912	32	2		2	RPS6KA6	23	83351277	Silent	SNP	C	TCGA-CN-4727-01A-01D-1434-08	222739	83351277	71919283	486	12277											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011320	105011320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctggactccgcagaacaagGactttttggagaactccagc	11	9	10	11	1	1	2	0	0	1	2	3	5	3	4	2	3	3	1	2	3	3	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:105011320G>T	ENST00000372582.1	+	11	2483	c.1727G>T	c.(1726-1728)gGa>gTa	p.G576V	IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.G181V|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G576V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	576					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCAGAACAAGGACTTTTTGGA	0.438													29	38					7.38237e-10	8.68514e-10	1	0	T	105011320	G	T	105011320	3	4	61	1	0	0	0	0	1	0	0	0	7715	1174	41	2	1765	2	IL1RAPL2	23	105011320	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	21660043	105011320	50259240	487	12278											
CXorf57	55086	broad.mit.edu	37	chrX	105855463	105855463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatccaaaaggttcttgaGcagattatggactcacctcg	11	11	10	9	1	2	2	1	1	1	1	4	4	3	4	2	3	1	2	2	3	3	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:105855463G>A	ENST00000372548.4	+	1	262	c.153G>A	c.(151-153)gaG>gaA	p.E51E	CXorf57_ENST00000372544.2_Silent_p.E51E	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	51										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AGGTTCTTGAGCAGATTATGG	0.607													48	43					0	0	0	0	A	105855463	G	A	105855463	2	1	61	1	0	0	0	0	0	0	0	1	4145	962	34	4		4	CXorf57	23	105855463	Silent	SNP	G	TCGA-CN-4727-01A-01D-1434-08	844143	105855463	49415097	488	12279											
UPF3B	65109	broad.mit.edu	37	chrX	118979179	118979180	+	Frame_Shift_Ins	INS	-	-	T																															ccatcatcgatagtcccgacINStttggtatctcttttcttag																										TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:118979179_118979180insT	ENST00000276201.2	-	4	519_520	c.450_451insA	c.(448-453)aatcggfs	p.NR150fs	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Frame_Shift_Ins_p.NR150fs	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	150	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						ATAGTCCCGACTTTGGTATCTC	0.342													37	66	---	---	---	---					T	118979180	-	T	118979179	7	5	61	1	0	1	1	0	0	0	0	0	17102	565	20	0	1032	0	UPF3B	23	118979179	Frame_Shift_Ins	INS	-	TCGA-CN-4727-01A-01D-1434-08	13123716	118979179	36291381	489	12280											
STAG2	10735	broad.mit.edu	37	chrX	123217393	123217393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actacttcgacaagacaaaaGaacagtgtatgtatttgctg	15	11	8	7	1	0	2	0	0	0	2	1	3	0	2	0	0	3	3	0	0	7	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:123217393G>A	ENST00000371160.1	+	29	3337	c.3047G>A	c.(3046-3048)aGa>aAa	p.R1016K	STAG2_ENST00000371157.3_Missense_Mutation_p.R1016K|STAG2_ENST00000218089.9_Missense_Mutation_p.R1016K|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.R1016K|STAG2_ENST00000354548.5_Missense_Mutation_p.R947K|STAG2_ENST00000371145.3_Missense_Mutation_p.R1016K			Q8N3U4	STAG2_HUMAN	stromal antigen 2	1016					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAAGACAAAAGAACAGTGTAT	0.358													25	30					0	0	0	0	A	123217393	G	A	123217393	3	1	61	1	0	0	0	0	1	0	0	0	15333	942	33	2	3153	2	STAG2	23	123217393	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	4238214	123217393	32053167	490	12281											
SLITRK4	139065	broad.mit.edu	37	chrX	142717166	142717166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttgtgaatggtgcagacgGcttatttaaaagtttgggac	10	13	13	5	1	0	2	0	1	0	1	0	3	0	3	0	3	1	4	0	3	4	5			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:142717166G>T	ENST00000381779.4	-	2	1984	c.1759C>A	c.(1759-1761)Ccg>Acg	p.P587T	SLITRK4_ENST00000356928.1_Missense_Mutation_p.P587T|SLITRK4_ENST00000338017.4_Missense_Mutation_p.P587T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	587						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)					GGTGCAGACGGCTTATTTAAA	0.453													37	47					2.09667e-21	2.86133e-21	1	0	T	142717166	G	T	142717166	3	4	61	1	0	0	0	0	1	0	0	0	14833	1203	42	4	758	4	SLITRK4	23	142717166	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	19499773	142717166	12553394	491	12282											
SLITRK2	84631	broad.mit.edu	37	chrX	144905021	144905021	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtctgaatgtaaactgcCaagaaaggaagttcactaat	16	10	9	6	0	2	2	1	1	1	1	2	3	2	3	1	2	2	2	1	2	7	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:144905021C>G	ENST00000370490.1	+	1	5333	c.1078C>G	c.(1078-1080)Caa>Gaa	p.Q360E	SLITRK2_ENST00000447897.2_Missense_Mutation_p.Q360E|SLITRK2_ENST00000413937.2_Missense_Mutation_p.Q360E|SLITRK2_ENST00000434188.2_Missense_Mutation_p.Q360E|SLITRK2_ENST00000428560.2_Missense_Mutation_p.Q360E			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	360	LRRNT.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGTAAACTGCCAAGAAAGGAA	0.473													31	22					0	0	0	0	G	144905021	C	G	144905021	3	3	61	1	0	0	0	0	1	0	0	0	14831	595	21	4	1080	4	SLITRK2	23	144905021	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	2187855	144905021	10365539	492	12283											
PNMA3	29944	broad.mit.edu	37	chrX	152225666	152225666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaagggaaataccaggaaAgggggggccctgggaagtga	13	3	17	8	0	0	1	0	1	0	0	0	4	0	4	3	6	1	0	3	6	5	1			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:152225666A>G	ENST00000447306.1	+	2	590	c.254A>G	c.(253-255)aAg>aGg	p.K85R	PNMA3_ENST00000370264.4_Missense_Mutation_p.K85R|PNMA3_ENST00000370265.4_Missense_Mutation_p.K85R	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	85					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ataccaggaaagggggggccc	0.527													13	23					0	0	0	0	G	152225666	A	G	152225666	3	3	61	1	0	0	0	0	1	0	0	0	12227	72	3	5	256	5	PNMA3	23	152225666	Missense_Mutation	SNP	A	TCGA-CN-4727-01A-01D-1434-08	7320645	152225666	3044894	493	12284											
SPRY3	10251	broad.mit.edu	37	chrX	155004162	155004162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agacaactgtgctgatgagcCctgctcttgtgggcctagtt	7	12	12	10	0	1	3	0	2	1	1	1	3	1	3	2	1	4	3	2	1	2	3			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:155004162C>T	ENST00000302805.2	+	2	1060	c.629C>T	c.(628-630)cCc>cTc	p.P210L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	210	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCTGATGAGCCCTGCTCTTGT	0.562													90	198					0	0	0	0	T	155004162	C	T	155004162	3	4	61	1	0	0	0	0	1	0	0	0	15197	623	22	4	631	4	SPRY3	23	155004162	Missense_Mutation	SNP	C	TCGA-CN-4727-01A-01D-1434-08	2778496	155004162	266398	494	12285											
IL9R	3581	broad.mit.edu	37	chrX	155233355	155233355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccagcaaccaggctcctGgcggcacacataagtgcatc	10	8	9	14	1	0	0	0	0	0	0	3	0	2	0	3	3	3	4	3	3	2	2			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:155233355G>A	ENST00000424344.3	+	5	572	c.205G>A	c.(205-207)Ggc>Agc	p.G69S	IL9R_ENST00000369423.2_Silent_p.L134L|IL9R_ENST00000244174.5_Missense_Mutation_p.G90S|IL9R_ENST00000540897.1_Silent_p.L124L			Q01113	IL9R_HUMAN	interleukin 9 receptor	90					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGGCTCCTGGCGGCACACA	0.577													7	18					0	0	0	0	A	155233355	G	A	155233355	3	1	61	1	0	0	0	0	1	0	0	0	7761	1348	47	4	282	4	IL9R	23	155233355	Missense_Mutation	SNP	G	TCGA-CN-4727-01A-01D-1434-08	229193	155233355	37205	495	12286											
SLC2A5	6518	broad.mit.edu	37	chr1	9129568	9129568	+	Frame_Shift_Del	DEL	C	C	-																															gagcaacacactcaccccttCcttcatgctctgatcctgtt																										TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:9129568delC	ENST00000377424.4	-	1	207	c.28delG	c.(28-30)aafs	p.E10fs	SLC2A5_ENST00000377414.3_Frame_Shift_Del_p.E10fs|SLC2A5_ENST00000535586.1_5'UTR	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	10					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTCACCCCTTCCTTCATGCTC	0.587													38	483	---	---	---	---					-	9129568	C	-	9129568	7	5	62	1	0	1	0	1	0	0	0	0	14636	864	30	0	1689	0	SLC2A5	1	9129568	Frame_Shift_Del	DEL	C	TCGA-CN-4728-01A-01D-1434-08		9129568	240121053	1	12287											
ZC3H12A	80149	broad.mit.edu	37	chr1	37949128	37949128	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgcacctggtggaggctgtGatggggcgcttcccacagct	5	8	15	13	2	0	1	0	1	0	0	1	2	1	2	3	5	1	4	3	5	0	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:37949128G>C	ENST00000373087.6	+	6	1832	c.1716G>C	c.(1714-1716)gtG>gtC	p.V572V		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	572					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGAGGCTGTGATGGGGCGCT	0.657													8	46					0	0	0	0	C	37949128	G	C	37949128	2	2	62	1	0	0	0	0	0	0	0	1	17656	1277	45	2		2	ZC3H12A	1	37949128	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	28819560	37949128	211301493	2	12288											
KNCN	148930	broad.mit.edu	37	chr1	47016763	47016763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagcgccaataaagacaCcgcccatggcagctgcagcc	12	3	10	16	2	0	1	0	0	0	1	0	1	0	1	4	1	5	4	4	1	3	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:47016763C>G	ENST00000481882.2	-	1	436	c.125G>C	c.(124-126)gGt>gCt	p.G42A	MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000396314.3_Missense_Mutation_p.G42A			A6PVL3	KNCN_HUMAN	kinocilin	42						integral to membrane				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					AATAAAGACACCGCCCATGGC	0.632													7	110					0	0	0	0	G	47016763	C	G	47016763	3	3	62	1	0	0	0	0	1	0	0	0	8477	507	18	4	192	4	KNCN	1	47016763	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	9067635	47016763	202233858	3	12289											
CYP4A22	284541	broad.mit.edu	37	chr1	47610609	47610609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagagctcagcactcccGtcaccttccctgatgggcgc	8	7	11	15	2	2	2	2	1	0	1	4	4	4	2	3	1	2	2	3	1	1	1	rs141856283		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:47610609G>A	ENST00000371891.3	+	9	1220	c.1189G>A	c.(1189-1191)Gtc>Atc	p.V397I	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.V299I|CYP4A22_ENST00000294337.3_Missense_Mutation_p.V397I	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	397						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGCACTCCCGTCACCTTCCC	0.582													7	58					0	0	0	0	A	47610609	G	A	47610609	3	1	62	1	0	0	0	0	1	0	0	0	4216	1145	40	1	1223	1	CYP4A22	1	47610609	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	593846	47610609	201640012	4	12290											
CACHD1	57685	broad.mit.edu	37	chr1	65099811	65099811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgtctccagccaccagtGagacaaaaaggaaaatgtcc	14	8	8	11	0	2	1	0	1	2	1	4	3	3	2	4	1	1	0	4	1	4	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:65099811G>A	ENST00000371073.2	+	7	874	c.874G>A	c.(874-876)Gag>Aag	p.E292K	CACHD1_ENST00000290039.5_Missense_Mutation_p.E241K|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	292	VWFA.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGCCACCAGTGAGACAAAAAG	0.473													7	70					0	0	0	0	A	65099811	G	A	65099811	3	1	62	1	0	0	0	0	1	0	0	0	2562	1291	45	2	747	2	CACHD1	1	65099811	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	17489202	65099811	184150810	5	12291											
PDE4B	5142	broad.mit.edu	37	chr1	66833700	66833700	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggtagaaacgaagaaagtTacaagttcaggcgttcttct	14	11	10	6	2	3	2	1	0	2	2	3	3	3	2	0	2	2	4	0	2	6	5			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:66833700T>C	ENST00000423207.2	+	13	2054	c.1569T>C	c.(1567-1569)gtT>gtC	p.V523V	PDE4B_ENST00000480109.2_Silent_p.V305V|PDE4B_ENST00000371045.5_Silent_p.V366V|PDE4B_ENST00000371049.3_Silent_p.V538V|PDE4B_ENST00000329654.4_Silent_p.V538V	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	538					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CGAAGAAAGTTACAAGTTCAG	0.388													12	90					0	0	0	0	C	66833700	T	C	66833700	2	2	62	1	0	0	0	0	0	0	0	1	11711	1741	61	5		5	PDE4B	1	66833700	Silent	SNP	T	TCGA-CN-4728-01A-01D-1434-08	1733889	66833700	182416921	6	12292											
COL11A1	1301	broad.mit.edu	37	chr1	103355090	103355090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccttgttctcctggaggaCcaatcaggccaattaaacca	11	9	7	14	0	2	0	1	0	1	0	3	2	2	2	6	3	1	1	6	3	4	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:103355090C>G	ENST00000358392.2	-	59	4738	c.4421G>C	c.(4420-4422)gGt>gCt	p.G1474A	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1346A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1423A|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1462A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1462	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCTGGAGGACCAATCAGGCC	0.388													14	156					0	0	0	0	G	103355090	C	G	103355090	3	3	62	1	0	0	0	0	1	0	0	0	3697	507	18	4	1071	4	COL11A1	1	103355090	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	36521390	103355090	145895531	7	12293											
KCNA3	3738	broad.mit.edu	37	chr1	111216803	111216803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaagtcgcggcggggcaagGgccgctcctcctcccgcagg	5	4	17	15	5	0	0	0	0	0	0	4	1	3	1	4	6	0	3	4	6	2	0			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:111216803G>A	ENST00000369769.2	-	1	852	c.629C>T	c.(628-630)cCc>cTc	p.P210L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	210						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGGGGCAAGGGCCGCTCCTC	0.677													4	55					0	0	0	0	A	111216803	G	A	111216803	3	1	62	1	0	0	0	0	1	0	0	0	8057	1232	43	4	1102	4	KCNA3	1	111216803	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	7861713	111216803	138033818	8	12294											
PTGFRN	5738	broad.mit.edu	37	chr1	117487601	117487601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgtcccgggctctgtctgCcgaccagggctcctacaggt	5	9	13	14	2	2	0	0	0	2	0	4	1	4	0	4	3	2	2	4	3	1	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:117487601C>T	ENST00000393203.2	+	3	866	c.719C>T	c.(718-720)gCc>gTc	p.A240V		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	240	Ig-like C2-type 2.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GCTCTGTCTGCCGACCAGGGC	0.657													3	55					0	0	0	0	T	117487601	C	T	117487601	3	4	62	1	0	0	0	0	1	0	0	0	12830	739	26	4	729	4	PTGFRN	1	117487601	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	6270798	117487601	131763020	9	12295											
NES	10763	broad.mit.edu	37	chr1	156640663	156640663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctgggtcccccagccctCccaccccctgccccgggcct	2	5	10	24	1	0	0	0	0	0	0	2	0	2	0	10	3	2	0	10	3	0	0			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:156640663C>A	ENST00000368223.3	-	4	3449	c.3317G>T	c.(3316-3318)gGa>gTa	p.G1106V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1106	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCAGCCCTCCCACCCCCTG	0.657													12	62					1.5842e-08	1.84987e-08	1	0	A	156640663	C	A	156640663	3	1	62	1	0	0	0	0	1	0	0	0	10407	855	30	2	1552	2	NES	1	156640663	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	39153062	156640663	92609958	10	12296											
DARC	2532	broad.mit.edu	37	chr1	159176142	159176142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctacgcccctgctcctcGccctattctgccaccaggcc	4	9	8	20	2	1	0	0	0	1	0	3	0	2	0	7	2	3	2	7	2	2	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:159176142G>A	ENST00000537147.1	+	3	1756	c.913G>A	c.(913-915)Gcc>Acc	p.A305T	DARC_ENST00000368121.2_Missense_Mutation_p.A307T|DARC_ENST00000368122.2_Missense_Mutation_p.A305T			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	305					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCTGCTCCTCGCCCTATTCTG	0.592													97	539					0	0	0	0	A	159176142	G	A	159176142	3	1	62	1	0	0	0	0	1	0	0	0	4273	1087	38	1	946	1	DARC	1	159176142	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	2535479	159176142	90074479	11	12297											
TOR3A	64222	broad.mit.edu	37	chr1	179064256	179064256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagagacactggatgaaaTagcccagatgatggtgtatg	15	8	13	5	0	0	5	0	2	0	3	0	7	0	6	1	2	1	1	1	2	4	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:179064256T>C	ENST00000367627.3	+	6	1849	c.1097T>C	c.(1096-1098)aTa>aCa	p.I366T	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	366					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTGGATGAAATAGCCCAGATG	0.507													27	311					0	0	0	0	C	179064256	T	C	179064256	3	2	62	1	0	0	0	0	1	0	0	0	16471	1406	49	5	1119	5	TOR3A	1	179064256	Missense_Mutation	SNP	T	TCGA-CN-4728-01A-01D-1434-08	19888114	179064256	70186365	12	12298											
SOAT1	6646	broad.mit.edu	37	chr1	179310294	179310295	+	Frame_Shift_Ins	INS	-	-	T																															caacattgggccactggctaINStagcaagagttctcatccgc																										TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:179310294_179310295insT	ENST00000367619.3	+	7	772_773	c.629_630insT	c.(628-630)tagfs	p.*210fs	SOAT1_ENST00000539888.1_Frame_Shift_Ins_p.*145fs|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000540564.1_Frame_Shift_Ins_p.*152fs	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	210					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GCCACTGGCTATAGCAAGAGTT	0.431													35	486	---	---	---	---					T	179310295	-	T	179310294	7	5	62	1	0	1	1	0	0	0	0	0	14998	449	16	0	651	0	SOAT1	1	179310294	Frame_Shift_Ins	INS	-	TCGA-CN-4728-01A-01D-1434-08	246038	179310294	69940327	13	12299											
KIF14	9928	broad.mit.edu	37	chr1	200529861	200529861	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaattacctggacactggCagctttattgttaccgtttt	9	16	7	9	1	0	0	0	0	0	0	0	1	0	1	2	2	3	4	2	2	5	8			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:200529861C>A	ENST00000367350.4	-	26	4657	c.4219G>T	c.(4219-4221)Gcc>Tcc	p.A1407S		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1407	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TGGACACTGGCAGCTTTATTG	0.383													23	188					3.83957e-06	4.32239e-06	1	0	A	200529861	C	A	200529861	3	1	62	1	0	0	0	0	1	0	0	0	8327	710	25	4	747	4	KIF14	1	200529861	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	21219567	200529861	48720760	14	12300											
CAMK1G	57172	broad.mit.edu	37	chr1	209786185	209786185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggcagctcccactgcCgggcagggcagactggagtc	7	5	15	14	1	0	1	0	0	0	1	2	2	1	2	3	4	2	4	3	4	0	0			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:209786185C>T	ENST00000009105.1	+	12	1641	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	CAMK1G_ENST00000361322.2_Missense_Mutation_p.R466W			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	466						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTCCCACTGCCGGGCAGGGCA	0.502													8	121					0	0	0	0	T	209786185	C	T	209786185	3	4	62	1	0	0	0	0	1	0	0	0	2623	643	23	1	1438	1	CAMK1G	1	209786185	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	9256324	209786185	39464436	15	12301											
C1orf35	79169	broad.mit.edu	37	chr1	228288853	228288854	+	Frame_Shift_Ins	INS	-	-	T																															aggcctcagagcctctgtcaINStgccacctgcgagacgggct																										TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:228288853_228288854insT	ENST00000272139.4	-	8	1004_1005	c.770_771insA	c.(769-771)cgafs	p.R257fs	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	257										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				AGCCTCTGTCATGCCACCTGCG	0.634													12	116	---	---	---	---					T	228288854	-	T	228288853	7	5	62	1	0	1	1	0	0	0	0	0	2058	214	8	0	24	0	C1orf35	1	228288853	Frame_Shift_Ins	INS	-	TCGA-CN-4728-01A-01D-1434-08	18502668	228288853	20961768	16	12302											
OBSCN	84033	broad.mit.edu	37	chr1	228487214	228487214	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggacctcagctacactcActgtcaggggtaaagatcct	12	8	10	11	0	3	2	3	0	0	2	4	3	4	3	2	3	2	2	2	3	3	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:228487214A>C	ENST00000570156.2	+	50	13539	c.13465A>C	c.(13465-13467)Act>Cct	p.T4489P	OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.T1179P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3532	Ig-like 46.			H -> Q (in Ref. 1; CAC44768).	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTACACTCACTGTCAGGGG	0.547													9	142					0	0	0	0	C	228487214	A	C	228487214	3	2	62	1	0	0	0	0	1	0	0	0	10883	174	6	5		5	OBSCN	1	228487214	Missense_Mutation	SNP	A	TCGA-CN-4728-01A-01D-1434-08	198361	228487214	20763407	17	12303											
AHCTF1	25909	broad.mit.edu	37	chr1	247059207	247059207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctgaattgctgctgacaaTatagcttctaactgttcttc	9	16	7	9	0	3	2	0	2	3	0	4	2	3	2	0	0	4	4	0	0	5	7			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:247059207T>C	ENST00000366508.1	-	13	1885	c.1749A>G	c.(1747-1749)atA>atG	p.I583M	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.I557M|AHCTF1_ENST00000391829.2_Missense_Mutation_p.I548M			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	548	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTGCTGACAATATAGCTTCTA	0.368													17	200					0	0	0	0	C	247059207	T	C	247059207	3	2	62	1	0	0	0	0	1	0	0	0	408	1396	49	5	5252	5	AHCTF1	1	247059207	Missense_Mutation	SNP	T	TCGA-CN-4728-01A-01D-1434-08	18571993	247059207	2191414	18	12304											
OR2W5	441932	broad.mit.edu	37	chr1	247655359	247655359	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acttctggggtgggagaaagGggctggggagcctcaacgag	9	6	19	7	1	2	1	1	0	1	1	2	4	2	2	1	7	2	1	1	7	2	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:247655359G>T	ENST00000522351.1	+	0	990							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGGAGAAAGGGGCTGGGGAG	0.488													10	230					6.42651e-13	7.74477e-13	1	0	T	247655359	G	T	247655359	1	4	62	0	1	0	0	0	0	0	0	0	11105	1223	43	4		4	OR2W5	1	247655359	RNA	SNP	G	TCGA-CN-4728-01A-01D-1434-08	596152	247655359	1595262	19	12305											
OR2T33	391195	broad.mit.edu	37	chr1	248436962	248436962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacatgggcgtgtggagcCggtggtcccagtgaatcagg	8	8	17	8	2	1	1	1	1	0	0	2	2	2	2	2	5	2	1	2	5	2	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:248436962C>T	ENST00000318021.2	-	1	176	c.155G>A	c.(154-156)cGg>cAg	p.R52Q		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CGTGTGGAGCCGGTGGTCCCA	0.527													33	200					0	0	0	0	T	248436962	C	T	248436962	3	4	62	1	0	0	0	0	1	0	0	0	11095	652	23	1	810	1	OR2T33	1	248436962	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	781603	248436962	813659	20	12306											
OR2M7	391196	broad.mit.edu	37	chr1	248486986	248486986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaatgctctggtcacttcCttgttgcggaggctataaat	9	15	9	8	1	2	0	1	0	1	0	3	1	3	1	1	3	2	3	1	3	4	6			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:248486986C>A	ENST00000317965.2	-	1	913	c.885G>T	c.(883-885)aaG>aaT	p.K295N		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGTCACTTCCTTGTTGCGGA	0.423													13	108					1.05317e-09	1.24526e-09	1	0	A	248486986	C	A	248486986	3	1	62	1	0	0	0	0	1	0	0	0	11085	680	24	4	56	4	OR2M7	1	248486986	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	50024	248486986	763635	21	12307											
ADCY3	109	broad.mit.edu	37	chr2	25062774	25062774	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggcctccatcttgttggcTacagtgacatcagtcgacca	8	10	9	14	2	2	1	1	1	1	0	4	2	3	1	4	2	1	2	4	2	1	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:25062774T>A	ENST00000260600.5	-	6	2174	c.1323A>T	c.(1321-1323)gtA>gtT	p.V441V	ADCY3_ENST00000405392.1_Silent_p.V52V	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	441					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCTTGTTGGCTACAGTGACAT	0.672													26	152					0	0	0	0	A	25062774	T	A	25062774	2	1	62	1	0	0	0	0	0	0	0	1	295	1509	53	5		5	ADCY3	2	25062774	Silent	SNP	T	TCGA-CN-4728-01A-01D-1434-08		25062774	218136599	22	12308											
EMILIN1	11117	broad.mit.edu	37	chr2	27306220	27306220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaagaggaactaggccGccttcgggatggtgtggagc	9	7	16	9	2	0	1	0	0	0	1	2	4	1	4	3	5	2	0	3	5	3	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:27306220G>A	ENST00000380320.4	+	4	2280	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	594					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAACTAGGCCGCCTTCGGGAT	0.697													19	97					0	0	0	0	A	27306220	G	A	27306220	3	1	62	1	0	0	0	0	1	0	0	0	5131	1087	38	1	1795	1	EMILIN1	2	27306220	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	2243446	27306220	215893153	23	12309											
CNGA3	1261	broad.mit.edu	37	chr2	99012566	99012566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttggtcttgtacattctCatcatcatccactggaatgc	10	14	6	11	0	4	0	3	0	2	0	6	1	5	1	1	2	3	1	1	2	3	4			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:99012566C>T	ENST00000393504.1	+	8	1350	c.933C>T	c.(931-933)ctC>ctT	p.L311L	CNGA3_ENST00000272602.2_Silent_p.L311L|CNGA3_ENST00000436404.2_Silent_p.L293L|CNGA3_ENST00000409937.1_Silent_p.L315L	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	311					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGTACATTCTCATCATCATCC	0.458													17	175					0	0	0	0	T	99012566	C	T	99012566	2	4	62	1	0	0	0	0	0	0	0	1	3628	813	29	2		2	CNGA3	2	99012566	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08	71706346	99012566	144186807	24	12310											
AFF3	3899	broad.mit.edu	37	chr2	100623856	100623856	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatctatcagttaaaaagtCtttcatttcatcataattgc	13	16	5	7	0	6	0	4	0	2	0	6	1	6	1	0	1	1	1	0	1	5	6			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:100623856C>G	ENST00000317233.4	-	5	476	c.241G>C	c.(241-243)Gac>Cac	p.D81H	AFF3_ENST00000409579.1_Missense_Mutation_p.D106H|AFF3_ENST00000409236.1_Missense_Mutation_p.D81H|AFF3_ENST00000356421.2_Missense_Mutation_p.D106H	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	81					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTTAAAAAGTCTTTCATTTCA	0.418													32	161					0	0	0	0	G	100623856	C	G	100623856	3	3	62	1	0	0	0	0	1	0	0	0	358	913	32	2	3519	2	AFF3	2	100623856	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	1611290	100623856	142575517	25	12311											
SCN9A	6335	broad.mit.edu	37	chr2	167055509	167055509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccgttttagtgtggttgtGatgggttcataggacacttt	6	18	12	5	1	1	1	1	1	0	0	2	2	2	2	1	3	0	3	1	3	2	7			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:167055509G>C	ENST00000375387.4	-	27	5983	c.5643C>G	c.(5641-5643)atC>atG	p.I1881M	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.I1869M|SCN9A_ENST00000409435.1_Missense_Mutation_p.I1880M|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1881M			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1880						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GTGTGGTTGTGATGGGTTCAT	0.428													29	177					0	0	0	0	C	167055509	G	C	167055509	3	2	62	1	0	0	0	0	1	0	0	0	14012	1280	45	2	330	2	SCN9A	2	167055509	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	66431653	167055509	76143864	26	12312											
LRP2	4036	broad.mit.edu	37	chr2	170042510	170042510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgcagccactgattgaaggGtcatggcattcattaatgcc	10	11	10	10	1	2	2	2	2	0	0	3	2	2	2	2	2	2	2	2	2	2	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:170042510G>T	ENST00000263816.3	-	50	9633	c.9348C>A	c.(9346-9348)gaC>gaA	p.D3116E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3116	EGF-like 11.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGATTGAAGGGTCATGGCATT	0.418													19	76					2.39187e-15	2.95837e-15	1	0	T	170042510	G	T	170042510	3	4	62	1	0	0	0	0	1	0	0	0	9020	1252	44	4	4739	4	LRP2	2	170042510	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	2987001	170042510	73156863	27	12313											
FASTKD1	79675	broad.mit.edu	37	chr2	170403114	170403114	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtggtaaaacggcttcaaTtcgggatatccccacttcgt	9	12	9	11	3	1	0	1	0	0	0	4	1	2	1	2	3	1	2	2	3	4	5			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:170403114T>A	ENST00000453153.2	-	8	1661	c.1315A>T	c.(1315-1317)Att>Ttt	p.I439F	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I439F	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	439					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						ACGGCTTCAATTCGGGATATC	0.408													13	105					0	0	0	0	A	170403114	T	A	170403114	3	1	62	1	0	0	0	0	1	0	0	0	5730	1493	52	5	1260	5	FASTKD1	2	170403114	Missense_Mutation	SNP	T	TCGA-CN-4728-01A-01D-1434-08	360604	170403114	72796259	28	12314											
ANKAR	150709	broad.mit.edu	37	chr2	190608094	190608094	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgcaggaataaacctaatCagttcattcgtataaaaaat	19	11	5	6	1	2	0	2	0	0	0	3	1	2	1	1	1	2	3	1	1	9	6			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:190608094C>G	ENST00000520309.1	+	21	3992	c.3904C>G	c.(3904-3906)Cag>Gag	p.Q1302E	ANKAR_ENST00000313581.4_Missense_Mutation_p.Q1302E|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.Q1231E	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1302						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TAAACCTAATCAGTTCATTCG	0.368													12	78					0	0	0	0	G	190608094	C	G	190608094	3	3	62	1	0	0	0	0	1	0	0	0	623	827	29	2	3982	2	ANKAR	2	190608094	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	20204980	190608094	52591279	29	12315											
PIKFYVE	200576	broad.mit.edu	37	chr2	209138378	209138378	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagccctcagctcccttcGaggacacagtctgttaggtc	8	9	9	15	1	2	0	1	0	1	0	5	2	3	1	3	2	2	2	3	2	1	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:209138378G>T	ENST00000264380.4	+	3	401	c.243G>T	c.(241-243)tcG>tcT	p.S81S	PIKFYVE_ENST00000407449.1_Silent_p.S81S|PIKFYVE_ENST00000308862.6_Silent_p.S81S|PIKFYVE_ENST00000392202.3_Silent_p.S81S	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	81					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGCTCCCTTCGAGGACACAGT	0.493													10	122					0.000442599	0.000472777	1	0	T	209138378	G	T	209138378	2	4	62	1	0	0	0	0	0	0	0	1	11996	1045	37	3		3	PIKFYVE	2	209138378	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	18530284	209138378	34060995	30	12316											
VIL1	7429	broad.mit.edu	37	chr2	219314035	219314035	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgatggaagcaacaaaacctCaagaaagaaaaaggactatt	21	5	8	7	1	1	2	1	0	0	2	1	5	1	4	1	2	3	1	1	2	9	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:219314035C>G	ENST00000248444.5	+	20	2548	c.2460C>G	c.(2458-2460)ctC>ctG	p.L820L	VIL1_ENST00000392114.2_Silent_p.L509L	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	820	HP.|Headpiece.|LPA/PIP2-binding site 3.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACAAAACCTCAAGAAAGAAA	0.448													34	245					0	0	0	0	G	219314035	C	G	219314035	2	3	62	1	0	0	0	0	0	0	0	1	17260	813	29	2		2	VIL1	2	219314035	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08	10175657	219314035	23885338	31	12317											
WDFY1	57590	broad.mit.edu	37	chr2	224809872	224809872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccgggccctacctgtcctCgctggccgtgatcacgccgt	3	8	12	18	5	1	1	1	1	0	0	3	1	2	1	6	2	1	1	6	2	1	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:224809872C>T	ENST00000233055.4	-	1	232	c.130G>A	c.(130-132)Gag>Aag	p.E44K		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	44						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TACCTGTCCTCGCTGGCCGTG	0.751													5	26					0	0	0	0	T	224809872	C	T	224809872	3	4	62	1	0	0	0	0	1	0	0	0	17364	893	31	1	1150	1	WDFY1	2	224809872	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	5495837	224809872	18389501	32	12318											
GRIP2	80852	broad.mit.edu	37	chr3	14562009	14562009	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctggcgtcttgactatttCcaccatcaagggtcccgaag	8	10	9	14	2	2	1	1	1	1	0	4	2	4	1	4	2	0	0	4	2	3	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:14562009C>T	ENST00000273083.3	-	0	813							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTGACTATTTCCACCATCAAG	0.552													4	38					0	0	0	0	T	14562009	C	T	14562009	1	4	62	0	1	0	0	0	0	0	0	0	6838	864	30	2		2	GRIP2	3	14562009	RNA	SNP	C	TCGA-CN-4728-01A-01D-1434-08		14562009	183460421	33	12319											
THRB	7068	broad.mit.edu	37	chr3	24174936	24174936	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggcattgactattggtgcTtgtccaatgtcttctggcta	6	15	12	8	0	2	1	0	1	2	0	3	1	3	1	1	4	1	3	1	4	3	6			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:24174936T>G	ENST00000396671.2	-	9	1104	c.756A>C	c.(754-756)caA>caC	p.Q252H	THRB_ENST00000416420.1_Missense_Mutation_p.Q252H|THRB_ENST00000280696.5_Missense_Mutation_p.Q267H|THRB_ENST00000356447.4_Missense_Mutation_p.Q252H	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	252	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CTATTGGTGCTTGTCCAATGT	0.393													5	82					0	0	0	0	G	24174936	T	G	24174936	3	3	62	1	0	0	0	0	1	0	0	0	15969	1606	56	5	641	5	THRB	3	24174936	Missense_Mutation	SNP	T	TCGA-CN-4728-01A-01D-1434-08	9612927	24174936	173847494	34	12320											
ZNF660	285349	broad.mit.edu	37	chr3	44635868	44635868	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgggaaagcctttagtcaGagtgcaaacctcacagtaca	13	9	10	9	0	2	1	2	0	0	1	2	2	2	2	2	1	4	2	2	1	4	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:44635868G>A	ENST00000322734.2	+	3	516	c.183G>A	c.(181-183)caG>caA	p.Q61Q	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CCTTTAGTCAGAGTGCAAACC	0.438													6	63					0	0	0	0	A	44635868	G	A	44635868	2	1	62	1	0	0	0	0	0	0	0	1	18165	933	33	2		2	ZNF660	3	44635868	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	20460932	44635868	153386562	35	12321											
NME6	10201	broad.mit.edu	37	chr3	48336722	48336722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggatgtaggctcggattggCccgctgtgaacaaaacaagc	12	7	13	9	2	0	1	0	1	0	0	1	3	0	3	1	4	3	3	1	4	5	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:48336722C>T	ENST00000450160.1	-	4	266	c.197G>A	c.(196-198)gGc>gAc	p.G66D	NME6_ENST00000426689.2_Silent_p.G79G|NME6_ENST00000426723.1_Intron|NME6_ENST00000421967.1_Silent_p.G87G|NME6_ENST00000442597.1_Silent_p.G79G|NME6_ENST00000415053.1_Silent_p.G79G|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000451657.1_Missense_Mutation_p.G66D|NME6_ENST00000435684.1_Missense_Mutation_p.G66D|NME6_ENST00000415644.1_Intron|NME6_ENST00000447314.1_Silent_p.G34G|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000452211.1_Silent_p.G79G			O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	0					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CTCGGATTGGCCCGCTGTGAA	0.552													3	37					0	0	0	0	T	48336722	C	T	48336722	3	4	62	1	0	0	0	0	1	0	0	0	10565	726	26	4	331	4	NME6	3	48336722	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	3700854	48336722	149685708	36	12322											
STAB1	23166	broad.mit.edu	37	chr3	52537039	52537039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtctgccaggagctgcGctgtccccagaacacccagt	7	6	11	17	2	1	1	0	0	1	1	2	2	2	2	5	1	4	2	5	1	1	0			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:52537039G>T	ENST00000321725.6	+	7	684	c.608G>T	c.(607-609)cGc>cTc	p.R203L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	203	EGF-like 3.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAGGAGCTGCGCTGTCCCCAG	0.662													3	17					0.115264	0.117133	1	0	T	52537039	G	T	52537039	3	4	62	1	0	0	0	0	1	0	0	0	15327	1087	38	3	634	3	STAB1	3	52537039	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	4200317	52537039	145485391	37	12323											
PBRM1	55193	broad.mit.edu	37	chr3	52643617	52643617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctccctccaggtctctgCgtgtttcaagcaggactttg	6	13	9	13	1	3	0	1	0	2	0	6	1	4	1	2	2	2	2	2	2	1	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:52643617C>T	ENST00000356770.4	-	15	2185	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	PBRM1_ENST00000409767.1_Missense_Mutation_p.R775H|PBRM1_ENST00000410007.1_Missense_Mutation_p.R760H|PBRM1_ENST00000296302.7_Missense_Mutation_p.R760H|PBRM1_ENST00000337303.4_Missense_Mutation_p.R760H|PBRM1_ENST00000394830.3_Missense_Mutation_p.R760H|PBRM1_ENST00000409114.3_Missense_Mutation_p.R775H|PBRM1_ENST00000409057.1_Missense_Mutation_p.R760H			Q86U86	PB1_HUMAN	polybromo 1	760	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAGGTCTCTGCGTGTTTCAAG	0.423			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								19	124					0	0	0	0	T	52643617	C	T	52643617	3	4	62	1	0	0	0	0	1	0	0	0	11562	768	27	1	2681	1	PBRM1	3	52643617	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	106578	52643617	145378813	38	12324											
MYH15	22989	broad.mit.edu	37	chr3	108147437	108147437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctgcttgacctgctgtaGattttctacctggccctcga	5	16	8	12	1	2	2	0	1	2	1	3	3	2	2	3	1	3	3	3	1	2	6			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:108147437G>A	ENST00000273353.3	-	28	3720	c.3664C>T	c.(3664-3666)Cta>Tta	p.L1222L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1222						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCTGCTGTAGATTTTCTACC	0.488													16	213					0	0	0	0	A	108147437	G	A	108147437	2	1	62	1	0	0	0	0	0	0	0	1	10104	933	33	2		2	MYH15	3	108147437	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	55503820	108147437	89874993	39	12325											
KALRN	8997	broad.mit.edu	37	chr3	124114033	124114033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgttggaggatgtctgtGcagattctgtggatgcagtc	8	13	15	5	0	2	2	0	0	2	2	3	5	2	5	0	3	2	3	0	3	0	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:124114033G>T	ENST00000360013.3	+	12	2135	c.2008G>T	c.(2008-2010)Gca>Tca	p.A670S	KALRN_ENST00000460856.1_Missense_Mutation_p.A670S|KALRN_ENST00000240874.3_Missense_Mutation_p.A670S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	670					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGATGTCTGTGCAGATTCTGT	0.517													5	65					0.014758	0.0154139	1	0	T	124114033	G	T	124114033	3	4	62	1	0	0	0	0	1	0	0	0	8028	1319	46	4	2054	4	KALRN	3	124114033	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	15966596	124114033	73908397	40	12326											
RHO	6010	broad.mit.edu	37	chr3	129251462	129251462	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcatcatggtcatcgctttCctgatctgctgggtgcccta	6	14	9	12	1	4	1	3	1	1	0	6	1	5	1	2	2	2	2	2	2	1	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:129251462C>G	ENST00000296271.3	+	4	877	c.783C>G	c.(781-783)ttC>ttG	p.F261L		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	261					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TCATCGCTTTCCTGATCTGCT	0.592													7	109					0	0	0	0	G	129251462	C	G	129251462	3	3	62	1	0	0	0	0	1	0	0	0	13413	854	30	2	797	2	RHO	3	129251462	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	5137429	129251462	68770968	41	12327											
IGSF10	285313	broad.mit.edu	37	chr3	151164902	151164902	+	Missense_Mutation	SNP	G	G	T																															cactcacttctcttacagatGtctgatgactatttgtggta																										TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:151164902G>T	ENST00000282466.3	-	4	2866	c.2867C>A	c.(2866-2868)aCa>aAa	p.T956K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	956					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTACAGATGTCTGATGACT	0.398													112	260					4.80225e-73	5.97896e-73	1	0	T	151164902	G	T	151164902	3	4	62	1	0	0	0	0	1	0	0	0	7650	1377	48	4	5064	4	IGSF10	3	151164902	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	21913440	151164902	46857528	42	12328	103	2									
IGSF10	285313	broad.mit.edu	37	chr3	151164903	151164903	+	Missense_Mutation	SNP	T	T	C																															actcacttctcttacagatgTctgatgactatttgtggtat																										TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:151164903T>C	ENST00000282466.3	-	4	2865	c.2866A>G	c.(2866-2868)Aca>Gca	p.T956A		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	956					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTACAGATGTCTGATGACTA	0.398													114	261					0	0	0	0	C	151164903	T	C	151164903	3	2	62	1	0	0	0	0	1	0	0	0	7650	1667	58	5	5065	5	IGSF10	3	151164903	Missense_Mutation	SNP	T	TCGA-CN-4728-01A-01D-1434-08	1	151164903	46857527	43	12329	103	2									
IFT80	57560	broad.mit.edu	37	chr3	160099510	160099510	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacagcttactaattcttGatgtgtcaccatgttaaaga	13	13	6	9	0	2	2	1	1	1	1	2	2	2	2	1	0	2	2	1	0	4	5			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:160099510G>A	ENST00000326448.7	-	3	472	c.40C>T	c.(40-42)Caa>Taa	p.Q14*	IFT80_ENST00000477495.1_5'UTR|IFT80_ENST00000496589.1_Intron|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_Intron	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	14				Q -> I (in Ref. 4; BAA92612).		cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACTAATTCTTGATGTGTCACC	0.353													27	252					0	0	0	0	A	160099510	G	A	160099510	4	1	62	1	0	0	0	0	0	1	0	0	7617	1304	45	2	2365	2	IFT80	3	160099510	Nonsense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	8934607	160099510	37922920	44	12330											
GOLIM4	27333	broad.mit.edu	37	chr3	167742808	167742808	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaattttcttctctcacttGctcggcttcttcaaattcat	8	18	3	12	1	6	0	3	0	3	0	8	0	6	0	0	1	1	2	0	1	2	7			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:167742808G>A	ENST00000470487.1	-	13	2388	c.1699C>T	c.(1699-1701)Caa>Taa	p.Q567*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.Q539*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	567	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTCTCACTTGCTCGGCTTCT	0.373													29	269					0	0	0	0	A	167742808	G	A	167742808	4	1	62	1	0	0	0	0	0	1	0	0	6614	1328	46	4	407	4	GOLIM4	3	167742808	Nonsense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	7643298	167742808	30279622	45	12331											
PSMD2	5708	broad.mit.edu	37	chr3	184023708	184023708	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcctcttggactgggtctCaaccacctgggtgaggggat	6	11	13	11	0	2	1	1	1	2	0	4	3	3	3	3	5	1	0	3	5	1	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:184023708C>G	ENST00000310118.4	+	13	2250	c.1692C>G	c.(1690-1692)ctC>ctG	p.L564L	PSMD2_ENST00000439383.1_Silent_p.L434L|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Silent_p.L405L	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	564					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GACTGGGTCTCAACCACCTGG	0.493											OREG0015947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	132					0	0	0	0	G	184023708	C	G	184023708	2	3	62	1	0	0	0	0	0	0	0	1	12777	813	29	2		2	PSMD2	3	184023708	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08	16280900	184023708	13998722	46	12332											
DGKG	1608	broad.mit.edu	37	chr3	186006525	186006525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttatcctgaggcctccccGtctccagcagggacaggtag	7	8	12	14	1	1	1	0	1	1	0	4	2	3	2	5	3	1	3	5	3	2	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:186006525G>A	ENST00000265022.3	-	6	1057	c.518C>T	c.(517-519)aCg>aTg	p.T173M	DGKG_ENST00000344484.4_Missense_Mutation_p.T173M|DGKG_ENST00000382164.4_Missense_Mutation_p.T173M|DGKG_ENST00000544847.1_Missense_Mutation_p.T173M	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	173					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGGCCTCCCCGTCTCCAGCAG	0.557													28	365					0	0	0	0	A	186006525	G	A	186006525	3	1	62	1	0	0	0	0	1	0	0	0	4506	1145	40	1	1937	1	DGKG	3	186006525	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	1982817	186006525	12015905	47	12333											
WDR53	348793	broad.mit.edu	37	chr3	196281368	196281368	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcatcccacaacgtgatcTtcccatcattccctccagta	9	12	4	16	1	2	1	1	1	1	0	6	1	6	1	4	0	2	2	4	0	2	4			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:196281368T>C	ENST00000332629.5	-	4	1358	c.791A>G	c.(790-792)aAg>aGg	p.K264R	WDR53_ENST00000429115.1_Missense_Mutation_p.K103R|WDR53_ENST00000433160.1_Missense_Mutation_p.K105R	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	264										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CAACGTGATCTTCCCATCATT	0.468													19	220					0	0	0	0	C	196281368	T	C	196281368	3	2	62	1	0	0	0	0	1	0	0	0	17401	1609	56	5	289	5	WDR53	3	196281368	Missense_Mutation	SNP	T	TCGA-CN-4728-01A-01D-1434-08	10274843	196281368	1741062	48	12334											
CDS1	1040	broad.mit.edu	37	chr4	85538789	85538789	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtctatcattcttatgatCtaccatggtttagaacacta	12	15	6	8	0	4	2	1	1	3	1	4	3	4	2	1	1	2	1	1	1	6	7			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:85538789C>T	ENST00000295887.5	+	4	838	c.415C>T	c.(415-417)Cta>Tta	p.L139L		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	139					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTCTTATGATCTACCATGGTT	0.338													7	113					0	0	0	0	T	85538789	C	T	85538789	2	4	62	1	0	0	0	0	0	0	0	1	3206	912	32	2		2	CDS1	4	85538789	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08		85538789	105615487	49	12335											
ADH5	128	broad.mit.edu	37	chr4	100003182	100003182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaattccagcaccttcaTgtcccaagatcactggaaaa	14	8	5	14	0	2	1	2	0	0	1	4	2	4	2	4	1	1	1	4	1	4	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:100003182T>C	ENST00000296412.8	-	3	250	c.200A>G	c.(199-201)cAt>cGt	p.H67R	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	67					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	AGCACCTTCATGTCCCAAGAT	0.453													15	74					0	0	0	0	C	100003182	T	C	100003182	3	2	62	1	0	0	0	0	1	0	0	0	311	1464	51	5	952	5	ADH5	4	100003182	Missense_Mutation	SNP	T	TCGA-CN-4728-01A-01D-1434-08	14464393	100003182	91151094	50	12336											
TMEM184C	55751	broad.mit.edu	37	chr4	148539207	148539207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgcggttcccctatgcGtgtgggaattacagaaactg	8	12	13	8	2	0	1	0	0	0	1	1	2	1	2	2	3	4	2	2	3	4	4			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:148539207G>A	ENST00000296582.3	+	1	674	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	TMEM184C_ENST00000508208.1_Missense_Mutation_p.V34M	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	34						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TCCCCTATGCGTGTGGGAATT	0.502											OREG0016353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	278					0	0	0	0	A	148539207	G	A	148539207	3	1	62	1	0	0	0	0	1	0	0	0	16200	1145	40	1	102	1	TMEM184C	4	148539207	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	48536025	148539207	42615069	51	12337											
CLCN3	1182	broad.mit.edu	37	chr4	170628124	170628124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtcatgaccagtaaatGggttggagatgcctttggca	10	11	13	7	0	1	2	1	1	0	1	1	3	1	2	2	3	2	4	2	3	2	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:170628124G>T	ENST00000513761.1	+	11	2415	c.1856G>T	c.(1855-1857)tGg>tTg	p.W619L	CLCN3_ENST00000360642.3_Missense_Mutation_p.W592L|CLCN3_ENST00000347613.4_Missense_Mutation_p.W619L|CLCN3_ENST00000504131.2_Missense_Mutation_p.W602L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	619					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ACCAGTAAATGGGTTGGAGAT	0.438													6	130					1.12685e-05	1.261e-05	1	0	T	170628124	G	T	170628124	3	4	62	1	0	0	0	0	1	0	0	0	3494	1357	47	4	1894	4	CLCN3	4	170628124	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	22088917	170628124	20526152	52	12338											
SPCS3	60559	broad.mit.edu	37	chr4	177249416	177249416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctggaattctacctcttGtgacaggatcaggacacgta	11	11	10	9	1	3	1	1	1	2	0	3	4	3	4	1	3	2	2	1	3	3	4			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:177249416G>T	ENST00000503362.1	+	5	591	c.478G>T	c.(478-480)Gtg>Ttg	p.V160L	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	160					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		TCTACCTCTTGTGACAGGATC	0.348													13	90					1.5842e-08	1.84987e-08	1	0	T	177249416	G	T	177249416	3	4	62	1	0	0	0	0	1	0	0	0	15115	1377	48	4	496	4	SPCS3	4	177249416	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	6621292	177249416	13904860	53	12339											
AGA	175	broad.mit.edu	37	chr4	178358644	178358644	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtggtttgtagggtccGcagtattttgagggatctgg	6	13	16	6	1	1	1	0	1	1	0	2	2	2	2	2	5	0	4	2	5	2	5			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:178358644G>A	ENST00000264595.2	-	5	664	c.537C>T	c.(535-537)tgC>tgT	p.C179C	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	179					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TGTAGGGTCCGCAGTATTTTG	0.338													4	88					0	0	0	0	A	178358644	G	A	178358644	2	1	62	1	0	0	0	0	0	0	0	1	365	1079	38	1		1	AGA	4	178358644	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	1109228	178358644	12795632	54	12340											
HTR1A	3350	broad.mit.edu	37	chr5	63257049	63257049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatgggcgggatagagatGaggaagccaataagccaagt	15	5	15	6	1	0	2	0	1	0	1	0	5	0	4	2	3	3	1	2	3	5	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr5:63257049G>A	ENST00000323865.3	-	1	731	c.498C>T	c.(496-498)ctC>ctT	p.L166L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	166					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GGATAGAGATGAGGAAGCCAA	0.607													8	99					0	0	0	0	A	63257049	G	A	63257049	2	1	62	1	0	0	0	0	0	0	0	1	7489	1277	45	2		2	HTR1A	5	63257049	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08		63257049	117658211	55	12341											
EBF1	1879	broad.mit.edu	37	chr5	158223429	158223429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctatgatgatcacagtcGcacctcccgtcgtccatcct	7	10	6	18	3	1	2	1	2	0	0	6	2	4	2	6	0	0	1	6	0	1	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr5:158223429G>A	ENST00000313708.6	-	9	1115	c.833C>T	c.(832-834)gCg>gTg	p.A278V	EBF1_ENST00000517373.1_Missense_Mutation_p.A270V|EBF1_ENST00000380654.4_Missense_Mutation_p.A247V|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	278	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATCACAGTCGCACCTCCCGT	0.463			T	HMGA2	lipoma								8	89					0	0	0	0	A	158223429	G	A	158223429	3	1	62	1	0	0	0	0	1	0	0	0	4916	1087	38	1	974	1	EBF1	5	158223429	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	94966380	158223429	22691831	56	12342											
FLT4	2324	broad.mit.edu	37	chr5	180048861	180048861	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accggctggccctctagtagCtcctcggatggcttggattc	5	11	12	13	2	1	0	0	0	1	0	4	2	2	2	3	5	1	4	3	5	2	4			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr5:180048861C>A	ENST00000261937.6	-	13	1779	c.1701G>T	c.(1699-1701)gaG>gaT	p.E567D	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.E567D|FLT4_ENST00000393347.3_Missense_Mutation_p.E567D	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	567	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTCTAGTAGCTCCTCGGATG	0.622													11	97					0.00010058	0.00011123	1	0	A	180048861	C	A	180048861	3	1	62	1	0	0	0	0	1	0	0	0	5989	796	28	4	2470	4	FLT4	5	180048861	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	21825432	180048861	866399	57	12343											
DST	667	broad.mit.edu	37	chr6	56504792	56504792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctatgaacatttttatGattttctaaatggctttcaa	12	18	5	6	0	3	2	1	2	2	0	3	2	3	2	0	1	2	2	0	1	6	8			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:56504792G>T	ENST00000370754.5	-	18	2454	c.2455C>A	c.(2455-2457)Cat>Aat	p.H819N	DST_ENST00000370788.2_Missense_Mutation_p.H641N|DST_ENST00000312431.6_Missense_Mutation_p.H641N|DST_ENST00000421834.2_Missense_Mutation_p.H641N|DST_ENST00000446842.2_Missense_Mutation_p.H315N|DST_ENST00000370769.4_Missense_Mutation_p.H641N|DST_ENST00000370765.6_Missense_Mutation_p.H315N|DST_ENST00000244364.6_Missense_Mutation_p.H315N|DST_ENST00000518935.1_Missense_Mutation_p.H315N|DST_ENST00000361203.3_Missense_Mutation_p.H641N			Q03001	DYST_HUMAN	dystonin	641					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACATTTTTATGATTTTCTAAA	0.308													7	116					0.000157383	0.000172024	1	0	T	56504792	G	T	56504792	3	4	62	1	0	0	0	0	1	0	0	0	4819	1290	45	2	19532	2	DST	6	56504792	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08		56504792	114610275	58	12344			1	17		4	3	427	N	G	2.150861e-06
DST	667	broad.mit.edu	37	chr6	56505116	56505116	+	Nonsense_Mutation	SNP	G	G	C																															tgaaatttggaactaatcctGatgggaaaccaggtgtataa																										TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:56505116G>C	ENST00000370754.5	-	17	2215	c.2216C>G	c.(2215-2217)tCa>tGa	p.S739*	DST_ENST00000370788.2_Nonsense_Mutation_p.S561*|DST_ENST00000312431.6_Nonsense_Mutation_p.S561*|DST_ENST00000421834.2_Nonsense_Mutation_p.S561*|DST_ENST00000446842.2_Nonsense_Mutation_p.S235*|DST_ENST00000370769.4_Nonsense_Mutation_p.S561*|DST_ENST00000370765.6_Nonsense_Mutation_p.S235*|DST_ENST00000244364.6_Nonsense_Mutation_p.S235*|DST_ENST00000518935.1_Nonsense_Mutation_p.S235*|DST_ENST00000361203.3_Nonsense_Mutation_p.S561*			Q03001	DYST_HUMAN	dystonin	561					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACTAATCCTGATGGGAAACC	0.453													9	140					0	0	0	0	C	56505116	G	C	56505116	4	2	62	1	0	0	0	0	0	1	0	0	4819	1294	45	2	19775	2	DST	6	56505116	Nonsense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	324	56505116	114609951	59	12345	104	2	1	17		4	3	427	N	G	2.150861e-06
DST	667	broad.mit.edu	37	chr6	56505121	56505121	+	Missense_Mutation	SNP	G	G	T																															tttggaactaatcctgatggGaaaccaggtgtataagctgg																										TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:56505121G>T	ENST00000370754.5	-	17	2210	c.2211C>A	c.(2209-2211)ttC>ttA	p.F737L	DST_ENST00000370788.2_Missense_Mutation_p.F559L|DST_ENST00000312431.6_Missense_Mutation_p.F559L|DST_ENST00000421834.2_Missense_Mutation_p.F559L|DST_ENST00000446842.2_Missense_Mutation_p.F233L|DST_ENST00000370769.4_Missense_Mutation_p.F559L|DST_ENST00000370765.6_Missense_Mutation_p.F233L|DST_ENST00000244364.6_Missense_Mutation_p.F233L|DST_ENST00000518935.1_Missense_Mutation_p.F233L|DST_ENST00000361203.3_Missense_Mutation_p.F559L			Q03001	DYST_HUMAN	dystonin	559					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCCTGATGGGAAACCAGGTG	0.443													11	141					2.61681e-11	3.13351e-11	1	0	T	56505121	G	T	56505121	3	4	62	1	0	0	0	0	1	0	0	0	4819	1165	41	2	19780	2	DST	6	56505121	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	5	56505121	114609946	60	12346	104	2	1	17		4	3	427	N	G	2.150861e-06
DST	667	broad.mit.edu	37	chr6	56505218	56505218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaagaggttagggaaggtGttaaactctgggtcagccct	11	10	14	6	0	2	2	1	0	1	2	2	3	2	3	1	4	2	2	1	4	6	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:56505218G>A	ENST00000370754.5	-	17	2113	c.2114C>T	c.(2113-2115)aCa>aTa	p.T705I	DST_ENST00000370788.2_Missense_Mutation_p.T527I|DST_ENST00000312431.6_Missense_Mutation_p.T527I|DST_ENST00000421834.2_Missense_Mutation_p.T527I|DST_ENST00000446842.2_Missense_Mutation_p.T201I|DST_ENST00000370769.4_Missense_Mutation_p.T527I|DST_ENST00000370765.6_Missense_Mutation_p.T201I|DST_ENST00000244364.6_Missense_Mutation_p.T201I|DST_ENST00000518935.1_Missense_Mutation_p.T201I|DST_ENST00000361203.3_Missense_Mutation_p.T527I			Q03001	DYST_HUMAN	dystonin	527					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGGGAAGGTGTTAAACTCTG	0.478													14	169					0	0	0	0	A	56505218	G	A	56505218	3	1	62	1	0	0	0	0	1	0	0	0	4819	1377	48	4	19877	4	DST	6	56505218	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	97	56505218	114609849	61	12347			1	17		4	3	427	N	G	2.150861e-06
RSPH4A	345895	broad.mit.edu	37	chr6	116949382	116949382	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcctctaggattttatcaGtttggtgaagaggaaggaga	12	12	13	4	0	2	3	1	1	1	2	3	6	3	5	1	4	0	1	1	4	4	4			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:116949382G>C	ENST00000229554.5	+	3	1649	c.1512G>C	c.(1510-1512)caG>caC	p.Q504H	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.Q504H	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	504					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATTTTATCAGTTTGGTGAAG	0.453									Kartagener syndrome				12	136					0	0	0	0	C	116949382	G	C	116949382	3	2	62	1	0	0	0	0	1	0	0	0	13791	1020	36	4	1522	4	RSPH4A	6	116949382	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	60444164	116949382	54165685	62	12348											
SASH1	23328	broad.mit.edu	37	chr6	148865488	148865488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgagtttgaaggaacacAccatcccctgggcaccaaag	14	5	9	13	1	0	1	0	1	0	0	1	3	1	2	4	2	1	2	4	2	3	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:148865488A>G	ENST00000367467.3	+	18	3357	c.2882A>G	c.(2881-2883)cAc>cGc	p.H961R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	961							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GAAGGAACACACCATCCCCTG	0.522													8	133					0	0	0	0	G	148865488	A	G	148865488	3	3	62	1	0	0	0	0	1	0	0	0	13934	159	6	5	2952	5	SASH1	6	148865488	Missense_Mutation	SNP	A	TCGA-CN-4728-01A-01D-1434-08	31916106	148865488	22249579	63	12349											
SYNE1	23345	broad.mit.edu	37	chr6	152469388	152469388	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgagcgagagggagagAttggaggaaggctgtggaga	12	5	21	3	2	0	4	0	1	0	3	0	11	0	7	0	5	2	1	0	5	1	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:152469388A>G	ENST00000367255.5	-	137	25369	c.24768T>C	c.(24766-24768)aaT>aaC	p.N8256N	SYNE1_ENST00000356820.4_Silent_p.N2780N|SYNE1_ENST00000341594.5_Silent_p.N7868N|SYNE1_ENST00000448038.1_Silent_p.N8185N|SYNE1_ENST00000539504.1_Silent_p.N411N|SYNE1_ENST00000423061.1_Silent_p.N8185N|SYNE1_ENST00000354674.4_Silent_p.N411N|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Silent_p.N8256N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8256					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAGGGAGAGATTGGAGGAAG	0.632										HNSCC(10;0.0054)			6	85					0	0	0	0	G	152469388	A	G	152469388	2	3	62	1	0	0	0	0	0	0	0	1	15536	330	12	5		5	SYNE1	6	152469388	Silent	SNP	A	TCGA-CN-4728-01A-01D-1434-08	3603900	152469388	18645679	64	12350											
C6orf118	168090	broad.mit.edu	37	chr6	165715310	165715310	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcctgcgccatccaggaggGccccgtccaggagggcctcc	5	5	13	18	2	0	0	0	0	0	0	4	2	4	2	8	4	1	0	8	4	0	0			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:165715310G>A	ENST00000543069.1	-	2	770	c.189C>T	c.(187-189)ggC>ggT	p.G63G	C6orf118_ENST00000230301.8_Silent_p.G167G			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	167										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ATCCAGGAGGGCCCCGTCCAG	0.627													8	156					0	0	0	0	A	165715310	G	A	165715310	2	1	62	1	0	0	0	0	0	0	0	1	2344	1190	42	4		4	C6orf118	6	165715310	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	13245922	165715310	5399757	65	12351											
SUN1	23353	broad.mit.edu	37	chr7	883166	883166	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaatcaaaaatgtaagtctCagtcctttaaaactcagaaa	18	10	6	7	0	3	1	3	0	1	1	5	2	4	2	1	1	1	1	1	1	7	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:883166C>G	ENST00000457378.2	+	7	966	c.730C>G	c.(730-732)Cag>Gag	p.Q244E	SUN1_ENST00000425407.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000403868.1_Missense_Mutation_p.Q223E|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000456758.2_Intron|SUN1_ENST00000405266.1_Intron	NM_001171945.1	NP_001165416.1	O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGTAAGTCTCAGTCCTTTAA	0.458													20	242					0	0	0	0	G	883166	C	G	883166	3	3	62	1	0	0	0	0	1	0	0	0	15481	827	29	2	752	2	SUN1	7	883166	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08		883166	158255497	66	12352											
DAGLB	221955	broad.mit.edu	37	chr7	6449640	6449640	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgtgaccacttggcgctaTagtgagcagcagagcagcag	10	7	14	10	2	0	3	0	2	0	1	0	3	0	3	1	1	4	5	1	1	2	3	rs138947170		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:6449640T>C	ENST00000297056.6	-	15	2016	c.1847A>G	c.(1846-1848)tAt>tGt	p.Y616C	DAGLB_ENST00000436575.1_Missense_Mutation_p.Y575C|DAGLB_ENST00000428902.2_3'UTR|DAGLB_ENST00000425398.2_Missense_Mutation_p.Y487C	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	616					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CTTGGCGCTATAGTGAGCAGC	0.597													7	100					0	0	0	0	C	6449640	T	C	6449640	3	2	62	1	0	0	0	0	1	0	0	0	4260	1406	49	5	175	5	DAGLB	7	6449640	Missense_Mutation	SNP	T	TCGA-CN-4728-01A-01D-1434-08	5566474	6449640	152689023	67	12353											
BMPER	168667	broad.mit.edu	37	chr7	34097738	34097738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggcaggacggagtgtcGcaataagcagtgcattccca	13	6	13	9	2	0	0	0	0	0	0	2	3	1	2	1	3	2	4	1	3	3	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:34097738G>A	ENST00000297161.2	+	11	1369	c.995G>A	c.(994-996)cGc>cAc	p.R332H	BMPER_ENST00000426693.1_Missense_Mutation_p.R332H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	332	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.R332H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACGGAGTGTCGCAATAAGCAG	0.493													8	86					0	0	0	0	A	34097738	G	A	34097738	3	1	62	1	0	0	0	0	1	0	0	0	1473	1087	38	1	1033	1	BMPER	7	34097738	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	27648098	34097738	125040925	68	12354											
KIAA1549	57670	broad.mit.edu	37	chr7	138602370	138602370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaaacaatgtaaatgtctCaaccaagggagaaaaagact	19	7	8	7	0	2	2	2	0	1	2	3	3	2	2	1	1	2	1	1	1	8	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:138602370C>T	ENST00000440172.1	-	2	2050	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K	KIAA1549_ENST00000242365.4_Missense_Mutation_p.E618K|KIAA1549_ENST00000422774.1_Missense_Mutation_p.E668K	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	668	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTAAATGTCTCAACCAAGGGA	0.502			O	BRAF	pilocytic astrocytoma								3	24					0	0	0	0	T	138602370	C	T	138602370	3	4	62	1	0	0	0	0	1	0	0	0	8295	835	29	2	3926	2	KIAA1549	7	138602370	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	104504632	138602370	20536293	69	12355											
DNAJB6	10049	broad.mit.edu	37	chr7	157160131	157160131	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtaacccagatgatgtcttCagggaattttttggtggaag	10	13	12	6	1	2	2	1	1	1	1	2	4	2	4	1	3	1	1	1	3	3	5			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:157160131C>T	ENST00000262177.4	+	5	505	c.300C>T	c.(298-300)ttC>ttT	p.F100F	DNAJB6_ENST00000429029.2_Silent_p.F100F|DNAJB6_ENST00000443280.1_Silent_p.F100F|DNAJB6_ENST00000452797.2_Silent_p.F51F	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	100	Gly/Phe-rich.|Interaction with HSP70.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATGATGTCTTCAGGGAATTTT	0.408													18	242					0	0	0	0	T	157160131	C	T	157160131	2	4	62	1	0	0	0	0	0	0	0	1	4660	825	29	2		2	DNAJB6	7	157160131	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08	18557761	157160131	1978532	70	12356											
STAR	6770	broad.mit.edu	37	chr8	38006273	38006273	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcctgttgcctcagccCtgcagaagggaataaccctt	10	8	9	14	0	1	1	1	0	0	1	1	2	1	2	4	1	5	2	4	1	3	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:38006273C>A	ENST00000276449.4	-	2	511		c.e2-1		RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein						C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TGCCTCAGCCCTGCAGAAGGG	0.592													5	97					0.014758	0.0154139	1	0	A	38006273	C	A	38006273	5	1	62	1	0	0	0	0	0	0	1	0	15344	695	24	4	817	4	STAR	8	38006273	Splice_Site	SNP	C	TCGA-CN-4728-01A-01D-1434-08		38006273	108357749	71	12357											
CYP7A1	1581	broad.mit.edu	37	chr8	59409510	59409510	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtaagatctctgccaaaGatagttaaatacccagcttc	13	12	6	10	0	1	2	0	0	1	2	3	2	1	2	2	0	3	3	2	0	6	6			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:59409510G>A	ENST00000301645.3	-	3	698	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	187					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CTCTGCCAAAGATAGTTAAAT	0.453									Neonatal Giant Cell Hepatitis				28	218					0	0	0	0	A	59409510	G	A	59409510	2	1	62	1	0	0	0	0	0	0	0	1	4228	932	33	2		2	CYP7A1	8	59409510	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	21403237	59409510	86954512	72	12358											
PREX2	80243	broad.mit.edu	37	chr8	69021852	69021852	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagatgtgtgtttgtcaaaTagatgagtaagtgttttgta	11	16	13	1	0	1	3	1	1	0	2	1	4	1	3	0	1	0	4	0	1	4	6			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:69021852T>G	ENST00000288368.4	+	25	3417	c.3140T>G	c.(3139-3141)aTa>aGa	p.I1047R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1047					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTGTCAAATAGATGAGTAA	0.348													34	99					0	0	0	0	G	69021852	T	G	69021852	3	3	62	1	0	0	0	0	1	0	0	0	12557	1406	49	5	3467	5	PREX2	8	69021852	Missense_Mutation	SNP	T	TCGA-CN-4728-01A-01D-1434-08	9612342	69021852	77342170	73	12359											
FER1L6	654463	broad.mit.edu	37	chr8	125076788	125076788	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacacacacctgtagcccagGagccaccaaaagatggaaaa	18	3	8	12	0	0	1	0	0	0	1	0	3	0	3	4	2	3	1	4	2	6	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:125076788G>T	ENST00000522917.1	+	26	3735	c.3529G>T	c.(3529-3531)Gag>Tag	p.E1177*	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.E1177*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1177						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGTAGCCCAGGAGCCACCAAA	0.527													7	120					0.000274275	0.00029465	1	0	T	125076788	G	T	125076788	4	4	62	1	0	0	0	0	0	1	0	0	5860	1175	41	2	3627	2	FER1L6	8	125076788	Nonsense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	56054936	125076788	21287234	74	12360											
RNF139	11236	broad.mit.edu	37	chr8	125498931	125498931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgggctaagaccagaagaGagacttattcgcttaagtag	14	9	12	6	1	0	4	0	0	0	4	1	5	0	4	1	1	0	3	1	1	5	5			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:125498931G>A	ENST00000303545.3	+	2	1413	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	347					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GACCAGAAGAGAGACTTATTC	0.413													50	350					0	0	0	0	A	125498931	G	A	125498931	2	1	62	1	0	0	0	0	0	0	0	1	13527	933	33	2		2	RNF139	8	125498931	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	422143	125498931	20865091	75	12361											
ADCY8	114	broad.mit.edu	37	chr8	131880122	131880122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaaactttgtattgccGtgataaatagaagaacgata	17	10	9	5	2	0	3	0	1	0	2	0	5	0	3	1	0	4	2	1	0	9	6			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:131880122G>A	ENST00000286355.5	-	9	4272	c.2180C>T	c.(2179-2181)aCg>aTg	p.T727M	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	727					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTGTATTGCCGTGATAAATAG	0.353										HNSCC(32;0.087)			18	113					0	0	0	0	A	131880122	G	A	131880122	3	1	62	1	0	0	0	0	1	0	0	0	300	1145	40	1	1615	1	ADCY8	8	131880122	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	6381191	131880122	14483900	76	12362											
FAM135B	51059	broad.mit.edu	37	chr8	139380208	139380208	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctaccgaaaactcaaccgTtccttgtatttcagacatga	12	12	5	12	2	3	2	2	1	1	1	4	3	4	2	3	0	3	2	3	0	5	5			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:139380208T>G	ENST00000395297.1	-	2	189	c.19A>C	c.(19-21)Acg>Ccg	p.T7P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	7										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AACTCAACCGTTCCTTGTATT	0.378										HNSCC(54;0.14)			18	201					0	0	0	0	G	139380208	T	G	139380208	3	3	62	1	0	0	0	0	1	0	0	0	5490	1725	60	5	4277	5	FAM135B	8	139380208	Missense_Mutation	SNP	T	TCGA-CN-4728-01A-01D-1434-08	7500086	139380208	6983814	77	12363											
C9orf47	286223	broad.mit.edu	37	chr9	91605992	91605992	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaccctcgctgtcagggCgacaggcgcccgcccaagcc	9	3	11	18	4	1	0	1	0	0	0	2	1	1	0	4	2	2	1	4	2	2	0			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr9:91605992C>G	ENST00000375851.2	+	1	215	c.82C>G	c.(82-84)Cga>Gga	p.R28G	C9orf47_ENST00000334490.5_Missense_Mutation_p.R28G|C9orf47_ENST00000375850.3_Missense_Mutation_p.R28G	NM_001001938.3|NM_001142413.1	NP_001001938.1|NP_001135885.1	Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	28						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						GCTGTCAGGGCGACAGGCGCC	0.567													7	50					0	0	0	0	G	91605992	C	G	91605992	3	3	62	1	0	0	0	0	1	0	0	0	2510	760	27	3	84	3	C9orf47	9	91605992	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08		91605992	49607439	78	12364											
PTCH1	5727	broad.mit.edu	37	chr9	98209663	98209663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttgccgtccgggaggcaggGaccctgagtccaggtggggc	5	6	18	12	2	0	1	0	1	0	0	2	3	2	3	4	6	1	1	4	6	0	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr9:98209663G>A	ENST00000430669.2	-	23	4262	c.3677C>T	c.(3676-3678)tCc>tTc	p.S1226F	PTCH1_ENST00000437951.1_Missense_Mutation_p.S1226F|PTCH1_ENST00000418258.1_Missense_Mutation_p.S1141F|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1141F|PTCH1_ENST00000421141.1_Missense_Mutation_p.S1141F|PTCH1_ENST00000375274.2_Missense_Mutation_p.S1291F|PTCH1_ENST00000331920.6_Missense_Mutation_p.S1292F			Q13635	PTC1_HUMAN	patched 1	1292					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGGAGGCAGGGACCCTGAGTC	0.652													15	184					0	0	0	0	A	98209663	G	A	98209663	3	1	62	1	0	0	0	0	1	0	0	0	12809	1174	41	2	472	2	PTCH1	9	98209663	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	6603671	98209663	43003768	79	12365											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714638	138714638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgctgggcctcctagacacGatgctcctcggtctcccttc	4	11	9	17	3	1	1	0	0	1	1	7	2	3	1	4	2	1	2	4	2	1	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr9:138714638G>A	ENST00000389532.4	-	11	1933	c.1869C>T	c.(1867-1869)atC>atT	p.I623I	CAMSAP1_ENST00000409386.3_Silent_p.I634I|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.I345I	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	623						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCCTAGACACGATGCTCCTCG	0.547													11	138					0	0	0	0	A	138714638	G	A	138714638	2	1	62	1	0	0	0	0	0	0	0	1	2636	1048	37	1		1	CAMSAP1	9	138714638	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	40504975	138714638	2498793	80	12366											
COL13A1	1305	broad.mit.edu	37	chr10	71707080	71707080	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtttacatggaccaccCggggacaagggaaaccgggt	11	5	15	10	2	0	0	0	0	0	0	0	3	0	3	3	6	2	1	3	6	3	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:71707080C>T	ENST00000356340.3	+	36	2543	c.2007C>T	c.(2005-2007)ccC>ccT	p.P669P	COL13A1_ENST00000398966.3_Silent_p.P647P|COL13A1_ENST00000398978.3_Silent_p.P669P|COL13A1_ENST00000522165.1_Silent_p.P638P|COL13A1_ENST00000354547.3_Silent_p.P647P|COL13A1_ENST00000520267.1_Silent_p.P597P|COL13A1_ENST00000398973.3_Silent_p.P643P|COL13A1_ENST00000520133.1_Silent_p.P591P|COL13A1_ENST00000398972.3_Silent_p.P655P|COL13A1_ENST00000398969.3_Silent_p.P597P|COL13A1_ENST00000398971.3_Silent_p.P654P|COL13A1_ENST00000357811.3_Silent_p.P635P|COL13A1_ENST00000398964.3_Silent_p.P640P|COL13A1_ENST00000398968.3_Silent_p.P650P|COL13A1_ENST00000517713.1_Silent_p.P620P|COL13A1_ENST00000398974.3_Silent_p.P657P			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	669	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	ATGGACCACCCGGGGACAAGG	0.517													4	80					0	0	0	0	T	71707080	C	T	71707080	2	4	62	1	0	0	0	0	0	0	0	1	3700	639	23	1		1	COL13A1	10	71707080	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08		71707080	63827667	81	12367											
KIF20B	9585	broad.mit.edu	37	chr10	91476203	91476203	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttttaaagatctacaatgGattcaagtatctgattccaa	14	16	5	6	0	3	2	1	1	2	1	4	3	4	3	1	1	1	1	1	1	7	7			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:91476203G>C	ENST00000416354.1	+	9	1023	c.951G>C	c.(949-951)tgG>tgC	p.W317C	KIF20B_ENST00000371728.3_Missense_Mutation_p.W317C|KIF20B_ENST00000260753.4_Missense_Mutation_p.W317C|KIF20B_ENST00000394289.2_Missense_Mutation_p.W317C			Q96Q89	KI20B_HUMAN	kinesin family member 20B	317	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATCTACAATGGATTCAAGTAT	0.303													5	46					0	0	0	0	C	91476203	G	C	91476203	3	2	62	1	0	0	0	0	1	0	0	0	8338	1183	41	2	981	2	KIF20B	10	91476203	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	19769123	91476203	44058544	82	12368											
CYP26C1	340665	broad.mit.edu	37	chr10	94824176	94824176	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcatcggcacctggaGggggccatttctgagaagct	8	8	14	11	1	1	1	0	1	1	1	2	3	1	2	2	4	3	4	2	4	1	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:94824176G>A	ENST00000285949.5	+	4	744	c.744G>A	c.(742-744)gaG>gaA	p.E248E		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	248					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GGCACCTGGAGGGGGCCATTT	0.612													3	66					0	0	0	0	A	94824176	G	A	94824176	2	1	62	1	0	0	0	0	0	0	0	1	4189	991	35	4		4	CYP26C1	10	94824176	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	3347973	94824176	40710571	83	12369											
PDZD7	79955	broad.mit.edu	37	chr10	102781636	102781636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtcgtcaaacctgacaccGttggctgccaggacctggtc	8	9	11	13	2	1	1	1	1	0	0	3	2	1	2	4	3	2	2	4	3	1	1	rs148746572		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:102781636G>A	ENST00000370215.3	-	6	1011	c.786C>T	c.(784-786)aaC>aaT	p.N262N		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	262	PDZ 2.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		ACCTGACACCGTTGGCTGCCA	0.622													24	160					0	0	0	0	A	102781636	G	A	102781636	2	1	62	1	0	0	0	0	0	0	0	1	11775	1136	40	1		1	PDZD7	10	102781636	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	7957460	102781636	32753111	84	12370											
HTRA1	5654	broad.mit.edu	37	chr10	124266371	124266371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctccgcaactcagacatGgactacatccagaccgacgc	11	5	10	15	3	1	2	1	0	0	2	3	4	3	3	3	2	2	2	3	2	2	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:124266371G>A	ENST00000368984.3	+	4	1070	c.942G>A	c.(940-942)atG>atA	p.M314I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	314	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACTCAGACATGGACTACATCC	0.602													15	78					0	0	0	0	A	124266371	G	A	124266371	3	1	62	1	0	0	0	0	1	0	0	0	7506	1348	47	4	956	4	HTRA1	10	124266371	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	21484735	124266371	11268376	85	12371											
SPON1	10418	broad.mit.edu	37	chr11	14282159	14282159	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccatgcttgctgtccccAtggtccgagtggagtgactg	6	11	12	12	1	0	1	0	1	0	0	3	3	3	2	4	2	2	2	4	2	0	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:14282159A>T	ENST00000310358.7	+	0	2392							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGCTGTCCCCATGGTCCGAGT	0.547													10	85					0	0	0	0	T	14282159	A	T	14282159	1	4	62	0	1	0	0	0	0	0	0	0	15172	204	8	5		5	SPON1	11	14282159	RNA	SNP	A	TCGA-CN-4728-01A-01D-1434-08		14282159	120724357	86	12372											
TTC17	55761	broad.mit.edu	37	chr11	43413095	43413096	+	Frame_Shift_Ins	INS	-	-	A																															actaaaattctagaacttccINSatatagtatacatgcttttc																								rs138517922	by1000genomes	TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:43413095_43413096insA	ENST00000039989.4	+	4	514_515	c.500_501insA	c.(499-501)ctafs	p.L167fs	TTC17_ENST00000299240.6_Frame_Shift_Ins_p.L167fs|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	167							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTAGAACTTCCATATAGTATAC	0.356													20	127	---	---	---	---					A	43413096	-	A	43413095	7	5	62	1	0	1	1	0	0	0	0	0	16780	594	21	0	514	0	TTC17	11	43413095	Frame_Shift_Ins	INS	-	TCGA-CN-4728-01A-01D-1434-08	29130936	43413095	91593421	87	12373											
OR5R1	219479	broad.mit.edu	37	chr11	56185534	56185534	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggctgaggaaatagtacaTaggtgtgtggagtcgagtat	11	11	16	3	1	0	1	0	1	0	0	1	4	0	3	0	4	1	3	0	4	5	4			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:56185534T>A	ENST00000312253.1	-	1	174	c.175A>T	c.(175-177)Atg>Ttg	p.M59L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AAATAGTACATAGGTGTGTGG	0.438													10	73					0	0	0	0	A	56185534	T	A	56185534	3	1	62	1	0	0	0	0	1	0	0	0	11251	1406	49	5	801	5	OR5R1	11	56185534	Missense_Mutation	SNP	T	TCGA-CN-4728-01A-01D-1434-08	12772439	56185534	78820982	88	12374											
SSRP1	6749	broad.mit.edu	37	chr11	57094220	57094220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcttgttctctcccgaaGagctctcatcactagacaca	9	12	6	14	1	4	2	2	0	3	2	7	3	5	2	1	0	2	3	1	0	2	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:57094220G>A	ENST00000278412.2	-	16	2281	c.2015C>T	c.(2014-2016)tCt>tTt	p.S672F	RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	672	Ser-rich.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTCTCCCGAAGAGCTCTCATC	0.552													6	146					0	0	0	0	A	57094220	G	A	57094220	3	1	62	1	0	0	0	0	1	0	0	0	15284	942	33	2	122	2	SSRP1	11	57094220	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	908686	57094220	77912296	89	12375											
CTNND1	1500	broad.mit.edu	37	chr11	57569359	57569359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagccagagctgccagagGtgatcgccatgcttggattc	9	8	13	11	1	0	3	0	1	0	2	2	5	0	4	3	2	4	2	3	2	0	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:57569359G>T	ENST00000524630.1	+	7	1624	c.1111G>T	c.(1111-1113)Gtg>Ttg	p.V371L	CTNND1_ENST00000358694.6_Missense_Mutation_p.V371L|CTNND1_ENST00000533667.1_Missense_Mutation_p.V48L|CTNND1_ENST00000360682.6_Missense_Mutation_p.V371L|CTNND1_ENST00000528232.1_Missense_Mutation_p.V270L|CTNND1_ENST00000415361.2_Missense_Mutation_p.V270L|CTNND1_ENST00000527467.1_Missense_Mutation_p.V48L|CTNND1_ENST00000532787.1_Missense_Mutation_p.V270L|CTNND1_ENST00000528621.1_Missense_Mutation_p.V317L|CTNND1_ENST00000526938.1_Missense_Mutation_p.V371L|CTNND1_ENST00000526772.1_Missense_Mutation_p.V48L|CTNND1_ENST00000361332.4_Missense_Mutation_p.V371L|CTNND1_ENST00000426142.2_Missense_Mutation_p.V270L|CTNND1_ENST00000530748.1_Missense_Mutation_p.V317L|CTNND1_ENST00000529986.1_Missense_Mutation_p.V270L|CTNND1_ENST00000534579.1_Missense_Mutation_p.V317L|CTNND1_ENST00000525902.1_Missense_Mutation_p.V48L|CTNND1_ENST00000399039.4_Missense_Mutation_p.V371L|CTNND1_ENST00000529526.1_Missense_Mutation_p.V317L|CTNND1_ENST00000529873.1_Missense_Mutation_p.V317L|CTNND1_ENST00000361796.4_Missense_Mutation_p.V371L|CTNND1_ENST00000428599.2_Missense_Mutation_p.V371L|CTNND1_ENST00000532245.1_Missense_Mutation_p.V270L|CTNND1_ENST00000532463.1_Missense_Mutation_p.V270L|CTNND1_ENST00000529919.1_Missense_Mutation_p.V371L|CTNND1_ENST00000532844.1_Missense_Mutation_p.V317L|CTNND1_ENST00000361391.6_Missense_Mutation_p.V371L|CTNND1_ENST00000526357.1_Missense_Mutation_p.V317L|CTNND1_ENST00000532649.1_Missense_Mutation_p.V317L|CTNND1_ENST00000399050.4_Missense_Mutation_p.V371L|CTNND1_ENST00000531014.1_Missense_Mutation_p.V48L|CTNND1_ENST00000530094.1_Missense_Mutation_p.V270L			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	371					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GCTGCCAGAGGTGATCGCCAT	0.537													6	104					0.000157383	0.000172024	1	0	T	57569359	G	T	57569359	3	4	62	1	0	0	0	0	1	0	0	0	4051	1261	44	4	1129	4	CTNND1	11	57569359	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	475139	57569359	77437157	90	12376											
INTS5	80789	broad.mit.edu	37	chr11	62416747	62416747	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggtctgtagagggggtctGagaagagcttccaccactac	9	8	15	9	0	2	3	0	1	2	3	3	4	3	3	2	4	2	2	2	4	3	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:62416747G>C	ENST00000330574.2	-	2	857	c.805C>G	c.(805-807)Cag>Gag	p.Q269E		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	269					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GAGGGGGTCTGAGAAGAGCTT	0.577													4	70					0	0	0	0	C	62416747	G	C	62416747	3	2	62	1	0	0	0	0	1	0	0	0	7834	1299	45	2	2258	2	INTS5	11	62416747	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	4847388	62416747	72589769	91	12377											
CCND1	595	broad.mit.edu	37	chr11	69457891	69457891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggagcccgtgaaaaagagCcgcctgcagctgctgggggc	8	5	16	12	2	0	2	0	1	0	1	0	3	0	3	3	3	5	3	3	3	2	0			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:69457891C>T	ENST00000227507.2	+	2	518	c.291C>T	c.(289-291)agC>agT	p.S97S	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	97	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TGAAAAAGAGCCGCCTGCAGC	0.602			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)			4	101					0	0	0	0	T	69457891	C	T	69457891	2	4	62	1	0	0	0	0	0	0	0	1	2945	738	26	4		4	CCND1	11	69457891	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08	7041144	69457891	65548625	92	12378											
HYOU1	10525	broad.mit.edu	37	chr11	118921809	118921809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccttgatgcccttggactCgtagtcaggatacttcttga	8	13	10	10	1	2	2	1	2	1	0	3	4	2	4	2	2	3	1	2	2	2	6			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:118921809C>T	ENST00000404233.3	-	14	1727	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	HYOU1_ENST00000543287.1_Missense_Mutation_p.E448K|HYOU1_ENST00000529972.1_Missense_Mutation_p.E535K|HYOU1_ENST00000525859.1_Missense_Mutation_p.E535K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	535						endoplasmic reticulum lumen	ATP binding|protein binding	p.E535K(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CCCTTGGACTCGTAGTCAGGA	0.527													6	81					0	0	0	0	T	118921809	C	T	118921809	3	4	62	1	0	0	0	0	1	0	0	0	7523	893	31	1	1448	1	HYOU1	11	118921809	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	49463918	118921809	16084707	93	12379											
CD163	9332	broad.mit.edu	37	chr12	7637727	7637727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtctcctccgaggggctgGccagtctcttctcccatgga	5	10	12	14	1	3	0	0	0	3	0	7	2	4	1	4	5	0	1	4	5	0	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:7637727G>C	ENST00000359156.4	-	11	2946	c.2744C>G	c.(2743-2745)gCc>gGc	p.A915G	CD163_ENST00000541972.1_Missense_Mutation_p.A903G|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Missense_Mutation_p.A915G|CD163_ENST00000396620.3_Missense_Mutation_p.A948G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	915	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CGAGGGGCTGGCCAGTCTCTT	0.517													18	214					0	0	0	0	C	7637727	G	C	7637727	3	2	62	1	0	0	0	0	1	0	0	0	2996	1203	42	4	750	4	CD163	12	7637727	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08		7637727	126214168	94	12380											
EPS8	2059	broad.mit.edu	37	chr12	15776179	15776179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcatccttattgagagaGaaaagttgtgcaccatttaa	14	13	8	6	0	1	2	1	1	0	2	2	4	2	2	2	0	1	3	2	0	4	6			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:15776179G>T	ENST00000281172.5	-	20	2704	c.2268C>A	c.(2266-2268)ttC>ttA	p.F756L	EPS8_ENST00000540613.1_Missense_Mutation_p.F496L|EPS8_ENST00000543523.1_Missense_Mutation_p.F756L|EPS8_ENST00000542903.1_Missense_Mutation_p.F496L|EPS8_ENST00000543612.1_Missense_Mutation_p.F756L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	756					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TATTGAGAGAGAAAAGTTGTG	0.378													19	120					1.67942e-08	1.94895e-08	1	0	T	15776179	G	T	15776179	3	4	62	1	0	0	0	0	1	0	0	0	5232	933	33	2	208	2	EPS8	12	15776179	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	8138452	15776179	118075716	95	12381											
OR6C70	390327	broad.mit.edu	37	chr12	55863666	55863666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaggaaatggtcttttccCtggtaacaatggtgattagg	11	13	11	6	0	1	1	0	1	1	0	2	2	2	2	1	5	2	1	1	5	5	5			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:55863666C>T	ENST00000327335.4	-	1	256	c.257G>A	c.(256-258)aGg>aAg	p.R86K	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GGTCTTTTCCCTGGTAACAAT	0.378													18	131					0	0	0	0	T	55863666	C	T	55863666	3	4	62	1	0	0	0	0	1	0	0	0	11268	681	24	4	683	4	OR6C70	12	55863666	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	40087487	55863666	77988229	96	12382											
DNAJC14	85406	broad.mit.edu	37	chr12	56221277	56221277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaactattcttaccagcCgctgccatggcctgctatct	8	12	7	14	1	2	1	0	1	2	0	2	1	2	1	4	1	5	2	4	1	4	4			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:56221277C>T	ENST00000357606.3	-	3	1455	c.1166G>A	c.(1165-1167)cGg>cAg	p.R389Q	RP11-762I7.5_ENST00000546837.1_Silent_p.A18A|DNAJC14_ENST00000317269.3_Missense_Mutation_p.R389Q|DNAJC14_ENST00000317287.5_Missense_Mutation_p.R389Q			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	389					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCTTACCAGCCGCTGCCATGG	0.547													7	157					0	0	0	0	T	56221277	C	T	56221277	3	4	62	1	0	0	0	0	1	0	0	0	4669	652	23	1	966	1	DNAJC14	12	56221277	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	357611	56221277	77630618	97	12383											
TIMELESS	8914	broad.mit.edu	37	chr12	56814387	56814387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggccgaacccctagcttgCgcaacagctgctgaaactgt	9	7	12	13	2	0	1	0	1	0	0	0	2	0	1	3	2	7	4	3	2	4	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:56814387C>T	ENST00000229201.4	-	26	3345	c.3191G>A	c.(3190-3192)cGc>cAc	p.R1064H	TIMELESS_ENST00000553532.1_Missense_Mutation_p.R1065H|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R562H	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1065					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCCTAGCTTGCGCAACAGCTG	0.517													11	148					0	0	0	0	T	56814387	C	T	56814387	3	4	62	1	0	0	0	0	1	0	0	0	15998	768	27	1	448	1	TIMELESS	12	56814387	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	593110	56814387	77037508	98	12384			2	18		3	3	802	C		7.603382e-06
TIMELESS	8914	broad.mit.edu	37	chr12	56814831	56814831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttctgagcccccttcttCttcctcttcgctgtcttcct	1	18	5	17	1	5	1	0	1	5	0	8	1	7	1	4	0	2	2	4	0	0	6			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:56814831C>T	ENST00000229201.4	-	24	3107	c.2953G>A	c.(2953-2955)Gaa>Aaa	p.E985K	TIMELESS_ENST00000553532.1_Missense_Mutation_p.E986K|TIMELESS_ENST00000554616.1_Missense_Mutation_p.E483K	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	986					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCCCCTTCTTCTTCCTCTTCG	0.478													13	236					0	0	0	0	T	56814831	C	T	56814831	3	4	62	1	0	0	0	0	1	0	0	0	15998	922	32	2	694	2	TIMELESS	12	56814831	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	444	56814831	77037064	99	12385			2	18		3	3	802	C		7.603382e-06
TIMELESS	8914	broad.mit.edu	37	chr12	56815188	56815188	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtacagctcccgccgctCagccaccagccccagagcca	8	5	8	20	2	1	1	1	0	0	1	2	1	2	1	7	0	5	3	7	0	1	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:56815188C>A	ENST00000229201.4	-	23	2966	c.2812G>T	c.(2812-2814)Gag>Tag	p.E938*	TIMELESS_ENST00000553532.1_Nonsense_Mutation_p.E939*|TIMELESS_ENST00000554616.1_Nonsense_Mutation_p.E436*	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	939					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCCCGCCGCTCAGCCACCAGC	0.512													11	205					4.3838e-07	4.99488e-07	1	0	A	56815188	C	A	56815188	4	1	62	1	0	0	0	0	0	1	0	0	15998	835	29	2	839	2	TIMELESS	12	56815188	Nonsense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	357	56815188	77036707	100	12386			2	18		3	3	802	C		7.603382e-06
PIP4K2C	79837	broad.mit.edu	37	chr12	57992919	57992919	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccgagtcagtgtggacaaCgaagacagctacatgcttgt	12	9	11	9	2	1	1	1	0	0	1	1	4	1	2	1	1	5	2	1	1	4	3	rs147041101		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:57992919C>T	ENST00000354947.5	+	5	601	c.585C>T	c.(583-585)aaC>aaT	p.N195N	PIP4K2C_ENST00000540759.2_Silent_p.N195N|PIP4K2C_ENST00000422156.3_Silent_p.N147N|PIP4K2C_ENST00000550465.1_Silent_p.N177N			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	195	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GTGTGGACAACGAAGACAGCT	0.512													14	138					0	0	0	0	T	57992919	C	T	57992919	2	4	62	1	0	0	0	0	0	0	0	1	12010	535	19	1		1	PIP4K2C	12	57992919	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08	1177731	57992919	75858976	101	12387											
TMTC2	160335	broad.mit.edu	37	chr12	83251023	83251023	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcttcacaagcttctcCaagatcctccttggtgatgg	7	13	9	12	0	3	2	1	1	2	1	7	2	5	2	3	3	1	1	3	3	2	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:83251023C>A	ENST00000549919.1	+	3	2105	c.300C>A	c.(298-300)tcC>tcA	p.S100S	TMTC2_ENST00000548305.1_Silent_p.S106S|TMTC2_ENST00000321196.3_Silent_p.S106S			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	106						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CAAGCTTCTCCAAGATCCTCC	0.522													16	141					2.62699e-14	3.20697e-14	1	0	A	83251023	C	A	83251023	2	1	62	1	0	0	0	0	0	0	0	1	16355	581	21	4		4	TMTC2	12	83251023	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08	25258104	83251023	50600872	102	12388											
SETDB2	83852	broad.mit.edu	37	chr13	50054403	50054403	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaaggaatgccaaaacttcCcccttgtcaagtgacaaaat	15	8	7	11	0	1	1	1	1	0	0	2	2	2	2	3	1	2	1	3	1	7	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr13:50054403C>T	ENST00000354234.4	+	7	1824	c.918C>T	c.(916-918)tcC>tcT	p.S306S	SETDB2_ENST00000258672.5_Silent_p.S306S|SETDB2_ENST00000317257.8_Silent_p.S318S	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	318	Pre-SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		CCAAAACTTCCCCCTTGTCAA	0.408													23	270					0	0	0	0	T	50054403	C	T	50054403	2	4	62	1	0	0	0	0	0	0	0	1	14226	610	22	4		4	SETDB2	13	50054403	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08		50054403	65115475	103	12389											
SOX21	11166	broad.mit.edu	37	chr13	95364121	95364135	+	In_Frame_Del	DEL	GGCCTCGTCGATGAA	GGCCTCGTCGATGAA	-																															tgcatggcgcgtagacgcttGgcctcgtcgatgaacggccg																										TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr13:95364121_95364135delGGCCTCGTCGATGAA	ENST00000376945.2	-	1	254_268	c.169_183delTTCATCGACGAGGCC	c.(169-183)del	p.FIDEA57del		NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	57					regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					GTAGACGCTTGGCCTCGTCGATGAACGGCCGCTTC	0.614													24	104	---	---	---	---					-	95364135	GGCCTCGTCGATGAA	-	95364121	7	5	62	1	0	1	0	1	0	0	0	0	15038	1335	47	0	651	0	SOX21	13	95364121	In_Frame_Del	DEL	GGCCTCGTCGATGAA	TCGA-CN-4728-01A-01D-1434-08	45309718	95364121	19805757	104	12390											
ATP4B	496	broad.mit.edu	37	chr13	114307336	114307336	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaactctcctggaagaagTactgctcggaggtgcagttg	10	9	14	8	1	1	1	0	0	1	1	3	4	1	4	1	4	4	4	1	4	4	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr13:114307336T>C	ENST00000335288.4	-	4	448	c.407A>G	c.(406-408)tAc>tGc	p.Y136C		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	136					ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	CTGGAAGAAGTACTGCTCGGA	0.617													5	96					0	0	0	0	C	114307336	T	C	114307336	3	2	62	1	0	0	0	0	1	0	0	0	1150	1638	57	5	484	5	ATP4B	13	114307336	Missense_Mutation	SNP	T	TCGA-CN-4728-01A-01D-1434-08	18943215	114307336	862542	105	12391											
TOX4	9878	broad.mit.edu	37	chr14	21963465	21963466	+	Frame_Shift_Ins	INS	-	-	A																															caccccagcctcgatgtgtgINSaggtctggttgtgagaaccc																										TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr14:21963465_21963466insA	ENST00000405508.1	+	9	1995_1996	c.1719_1720insA	c.(1717-1722)gtggtcfs	p.V574fs	TOX4_ENST00000262709.3_Frame_Shift_Ins_p.V574fs|TOX4_ENST00000448790.2_Frame_Shift_Ins_p.V551fs			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	574						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CTCGATGTGTGAGGTCTGGTTG	0.505													15	218	---	---	---	---					A	21963466	-	A	21963465	7	5	62	1	0	1	1	0	0	0	0	0	16475	1277	45	0	1749	0	TOX4	14	21963465	Frame_Shift_Ins	INS	-	TCGA-CN-4728-01A-01D-1434-08		21963465	85386075	106	12392											
ANGEL1	23357	broad.mit.edu	37	chr14	77269772	77269772	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctactggtcgctgacaagcGatgctgcagaagcggaaacg	11	6	13	11	4	0	2	0	1	0	1	1	4	0	3	1	2	6	3	1	2	4	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr14:77269772G>A	ENST00000251089.2	-	7	1672	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	ANGEL1_ENST00000557179.1_Silent_p.I85I	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	520										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCTGACAAGCGATGCTGCAGA	0.473													5	91					0	0	0	0	A	77269772	G	A	77269772	2	1	62	1	0	0	0	0	0	0	0	1	608	1048	37	1		1	ANGEL1	14	77269772	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	55306307	77269772	30079768	107	12393											
TMEM63C	57156	broad.mit.edu	37	chr14	77685844	77685844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcctggcctgtagctcGtccttgtggtttactccttc	2	18	8	13	1	0	0	0	0	0	0	5	0	3	0	4	2	2	3	4	2	2	7			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr14:77685844G>A	ENST00000298351.4	+	4	298	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	RP11-463C8.4_ENST00000557752.1_3'UTR	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	52						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCTGTAGCTCGTCCTTGTGGT	0.592													17	155					0	0	0	0	A	77685844	G	A	77685844	3	1	62	1	0	0	0	0	1	0	0	0	16286	1145	40	1	160	1	TMEM63C	14	77685844	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	416072	77685844	29663696	108	12394											
PSMC1	5700	broad.mit.edu	37	chr14	90734636	90734636	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgagagtggttggctctGaacttattcagaagtaccta	10	14	10	7	0	3	3	1	2	2	2	3	4	3	3	1	2	2	3	1	2	5	6			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr14:90734636G>T	ENST00000261303.8	+	8	863	c.760G>T	c.(760-762)Gaa>Taa	p.E254*	PSMC1_ENST00000543772.2_Nonsense_Mutation_p.E181*	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	254					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		GGTTGGCTCTGAACTTATTCA	0.403													5	92					0.0215528	0.0223863	1	0	T	90734636	G	T	90734636	4	4	62	1	0	0	0	0	0	1	0	0	12764	1291	45	2	790	2	PSMC1	14	90734636	Nonsense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	13048792	90734636	16614904	109	12395											
AVEN	57099	broad.mit.edu	37	chr15	34163164	34163164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcggcagcaacgttgagtCggaggcagagaggcagctct	9	7	16	9	3	1	2	0	1	1	1	3	4	1	3	0	4	3	7	0	4	1	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:34163164C>T	ENST00000306730.3	-	4	713	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	AVEN_ENST00000558136.1_5'UTR	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	195					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		AACGTTGAGTCGGAGGCAGAG	0.443													5	46					0	0	0	0	T	34163164	C	T	34163164	3	4	62	1	0	0	0	0	1	0	0	0	1230	884	31	1	516	1	AVEN	15	34163164	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08		34163164	68368228	110	12396											
ISLR2	57611	broad.mit.edu	37	chr15	74427051	74427051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacccgcgtgcttcgtacctCgagtccgagaaaagctaccc	9	7	10	15	5	0	1	0	0	0	1	3	4	1	1	4	0	4	3	4	0	4	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:74427051C>T	ENST00000361742.3	+	4	2725	c.1956C>T	c.(1954-1956)ctC>ctT	p.L652L	ISLR2_ENST00000565540.1_Silent_p.L652L|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.L652L|ISLR2_ENST00000453268.2_Silent_p.L652L|ISLR2_ENST00000435464.1_Silent_p.L652L|ISLR2_ENST00000445793.1_Silent_p.L652L|ISLR2_ENST00000419208.1_Silent_p.L652L	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	652					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CTTCGTACCTCGAGTCCGAGA	0.677											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	101					0	0	0	0	T	74427051	C	T	74427051	2	4	62	1	0	0	0	0	0	0	0	1	7912	871	31	1		1	ISLR2	15	74427051	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08	40263887	74427051	28104341	111	12397											
PTPN9	5780	broad.mit.edu	37	chr15	75815511	75815511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagcctgaagtaccacatGttggactgacttgtggggat	10	10	13	8	0	0	3	0	2	0	1	0	5	0	5	2	3	2	2	2	3	2	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:75815511G>C	ENST00000306726.2	-	4	885	c.373C>G	c.(373-375)Cat>Gat	p.H125D		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	125	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTACCACATGTTGGACTGAC	0.428													5	62					0	0	0	0	C	75815511	G	C	75815511	3	2	62	1	0	0	0	0	1	0	0	0	12876	1377	48	4	1448	4	PTPN9	15	75815511	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	1388460	75815511	26715881	112	12398											
AKAP13	11214	broad.mit.edu	37	chr15	86122930	86122930	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctgccagttccctggAtggtaacaaacctgctgagt	8	10	10	13	0	0	1	0	1	0	0	1	2	1	2	4	2	5	4	4	2	2	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:86122930A>T	ENST00000394518.2	+	7	1726	c.1631A>T	c.(1630-1632)gAt>gTt	p.D544V	AKAP13_ENST00000361243.2_Missense_Mutation_p.D544V|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	544					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGTTCCCTGGATGGTAACAAA	0.468													15	126					0	0	0	0	T	86122930	A	T	86122930	3	4	62	1	0	0	0	0	1	0	0	0	449	333	12	5	1653	5	AKAP13	15	86122930	Missense_Mutation	SNP	A	TCGA-CN-4728-01A-01D-1434-08	10307419	86122930	16408462	113	12399											
FANCI	55215	broad.mit.edu	37	chr15	89836226	89836226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attggcataaaaaataatatCtgtgcttttcttgtgatggg	12	16	9	4	0	2	1	0	1	2	0	2	1	2	1	0	2	1	2	0	2	5	7			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:89836226C>G	ENST00000310775.7	+	22	2309	c.2223C>G	c.(2221-2223)atC>atG	p.I741M	FANCI_ENST00000300027.8_Missense_Mutation_p.I741M	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	741					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AAAATAATATCTGTGCTTTTC	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	139					0	0	0	0	G	89836226	C	G	89836226	3	3	62	1	0	0	0	0	1	0	0	0	5714	903	32	2	2305	2	FANCI	15	89836226	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	3713296	89836226	12695166	114	12400											
C16orf91	283951	broad.mit.edu	37	chr16	1478469	1478469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagctgaggtccacctgcGcccgaagcctgggctggcca	6	5	14	16	3	0	1	0	1	0	0	1	3	1	1	6	3	3	2	6	3	1	0			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr16:1478469G>A	ENST00000310355.1	-	2	181	c.182C>T	c.(181-183)gCg>gTg	p.A61V				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GTCCACCTGCGCCCGAAGCCT	0.672													4	27					0	0	0	0	A	1478469	G	A	1478469	3	1	62	1	0	0	0	0	1	0	0	0	1857	1087	38	1	902	1	C16orf91	16	1478469	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08		1478469	88876284	115	12401											
UMOD	7369	broad.mit.edu	37	chr16	20352551	20352551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgtagagaaaagcctcagtgGacagtgtcacggaggagcct	12	6	14	9	2	2	1	2	0	0	1	2	5	2	4	2	3	2	1	2	3	3	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr16:20352551G>A	ENST00000396134.2	-	8	1661	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000570689.1_Missense_Mutation_p.S480F|UMOD_ENST00000424589.1_Missense_Mutation_p.S513F|UMOD_ENST00000396142.2_Missense_Mutation_p.S480F|UMOD_ENST00000302509.4_Missense_Mutation_p.S480F|UMOD_ENST00000396138.4_Missense_Mutation_p.S529F	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	480	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGCCTCAGTGGACAGTGTCAC	0.587													7	65					0	0	0	0	A	20352551	G	A	20352551	3	1	62	1	0	0	0	0	1	0	0	0	17075	1174	41	2	503	2	UMOD	16	20352551	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	18874082	20352551	70002202	116	12402											
ELMO3	79767	broad.mit.edu	37	chr16	67234439	67234439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgggagactctgagcatcCcctttgtgaggaaggtgggt	7	10	15	9	0	1	3	0	2	1	1	2	5	2	4	3	4	1	1	3	4	1	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr16:67234439C>T	ENST00000393997.2	+	6	715	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	ELMO3_ENST00000360833.1_Missense_Mutation_p.P203S|ELMO3_ENST00000477898.1_Missense_Mutation_p.P54S|ELMO3_ENST00000571638.1_3'UTR	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	167					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TCTGAGCATCCCCTTTGTGAG	0.647													14	109					0	0	0	0	T	67234439	C	T	67234439	3	4	62	1	0	0	0	0	1	0	0	0	5105	623	22	4	680	4	ELMO3	16	67234439	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	46881888	67234439	23120314	117	12403											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67854801	67854801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccacatacaccagtggccaGaccattttgcaaaatcgaaa	15	7	6	13	1	0	1	0	0	0	1	1	2	0	1	4	1	2	1	4	1	4	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr16:67854801G>C	ENST00000388833.3	+	3	422	c.45G>C	c.(43-45)caG>caC	p.Q15H	TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.Q69H	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	15					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CCAGTGGCCAGACCATTTTGC	0.577													41	489					0	0	0	0	C	67854801	G	C	67854801	3	2	62	1	0	0	0	0	1	0	0	0	16727	933	33	2	47	2	TSNAXIP1	16	67854801	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	620362	67854801	22499952	118	12404											
TP53	7157	broad.mit.edu	37	chr17	7579514	7579514	+	Frame_Shift_Del	DEL	G	G	-																															tgggagcttcatctggacctGggtcttcagtgaaccattgt																								rs144386518		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:7579514delG	ENST00000420246.2	-	4	305	c.173delC	c.(172-174)cafs	p.P58fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P58fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P58fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P58fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	58	Interaction with HRMT1L2.		P -> Q (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P58L(1)|p.P58fs*65(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)|p.P58Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTGGACCTGGGTCTTCAGT	0.602		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			121	266	---	---	---	---					-	7579514	G	-	7579514	7	5	62	1	0	1	0	1	0	0	0	0	16476	1348	47	0	1129	0	TP53	17	7579514	Frame_Shift_Del	DEL	G	TCGA-CN-4728-01A-01D-1434-08		7579514	73615696	119	12405											
SUZ12	23512	broad.mit.edu	37	chr17	30321584	30321584	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttacatttttgttgcagtAtcatccaaaaggtgctagga	11	16	8	6	0	1	0	1	0	0	0	2	1	2	1	1	2	3	4	1	2	5	7			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:30321584A>G	ENST00000322652.5	+	13	1668	c.1437_splice	c.e13-1	p.Y480_splice	SUZ12_ENST00000580398.1_Splice_Site_p.Y457_splice	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	480					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TTGTTGCAGTATCATCCAAAA	0.323			T	JAZF1	endometrial stromal tumours								7	75					0	0	0	0	G	30321584	A	G	30321584	5	3	62	1	0	0	0	0	0	0	1	0	15506	463	16	5	1489	5	SUZ12	17	30321584	Splice_Site	SNP	A	TCGA-CN-4728-01A-01D-1434-08	22742070	30321584	50873626	120	12406											
HOXB3	3213	broad.mit.edu	37	chr17	46627999	46627999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgttggcttggaggacgtgCggctcatactcgggcgccgg	4	8	17	12	6	1	0	1	0	0	0	2	2	1	2	2	6	2	3	2	6	1	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:46627999C>T	ENST00000470495.1	-	2	2440	c.993G>A	c.(991-993)ccG>ccA	p.P331P	HOXB3_ENST00000489475.1_Silent_p.P258P|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Silent_p.P199P|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Silent_p.P331P|HOXB3_ENST00000476342.1_Silent_p.P331P|HOXB3_ENST00000472863.1_Silent_p.P258P|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Silent_p.P199P|HOXB3_ENST00000490677.1_Silent_p.P197P|HOXB3_ENST00000311626.4_Silent_p.P331P			P14651	HXB3_HUMAN	homeobox B3	331					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGAGGACGTGCGGCTCATACT	0.716											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	70					0	0	0	0	T	46627999	C	T	46627999	2	4	62	1	0	0	0	0	0	0	0	1	7352	755	27	1		1	HOXB3	17	46627999	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08	16306415	46627999	34567211	121	12407											
PTRH2	51651	broad.mit.edu	37	chr17	57775074	57775074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtaggctgaaacagcaGcatgagagcactgggcagcc	11	6	14	10	0	0	2	0	2	0	1	0	3	0	2	1	2	5	7	1	2	2	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:57775074G>A	ENST00000470557.2	-	1	3712	c.266C>T	c.(265-267)gCt>gTt	p.A89V	PTRH2_ENST00000409433.2_Missense_Mutation_p.A90V|PTRH2_ENST00000393038.2_Missense_Mutation_p.A89V|PTRH2_ENST00000537860.1_Missense_Mutation_p.A89V			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	89					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGAAACAGCAGCATGAGAGCA	0.478													35	251					0	0	0	0	A	57775074	G	A	57775074	3	1	62	1	0	0	0	0	1	0	0	0	12899	971	34	4	277	4	PTRH2	17	57775074	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	11147075	57775074	23420136	122	12408											
CYB561	1534	broad.mit.edu	37	chr17	61511870	61511870	+	Frame_Shift_Del	DEL	A	A	-																															gtcggcccgggtcaagatgtAgagcaccgccccaccgaagc																										TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:61511870delA	ENST00000392976.1	-	6	948	c.649delT	c.(649-651)acfs	p.Y217fs	CYB561_ENST00000448884.2_3'UTR|CYB561_ENST00000542042.1_Frame_Shift_Del_p.Y284fs|CYB561_ENST00000360793.3_Frame_Shift_Del_p.Y217fs|CYB561_ENST00000392975.2_Frame_Shift_Del_p.Y217fs|CYB561_ENST00000584031.1_3'UTR|CYB561_ENST00000582997.1_Frame_Shift_Del_p.Y224fs|CYB561_ENST00000582297.1_Intron|CYB561_ENST00000582034.1_Frame_Shift_Del_p.Y188fs|CYB561_ENST00000581573.1_Frame_Shift_Del_p.Y217fs|CYB561_ENST00000581163.1_5'UTR	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	217	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GTCAAGATGTAGAGCACCGCC	0.657													7	30	---	---	---	---					-	61511870	A	-	61511870	7	5	62	1	0	1	0	1	0	0	0	0	4151	420	15	0	110	0	CYB561	17	61511870	Frame_Shift_Del	DEL	A	TCGA-CN-4728-01A-01D-1434-08	3736796	61511870	19683340	123	12409											
PITPNC1	26207	broad.mit.edu	37	chr17	65688860	65688860	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctccacagacgcaccCgaatttctgtccgttcccaa	8	10	5	18	3	2	1	0	0	2	1	6	2	5	1	5	0	0	2	5	0	2	2	rs146560406	by1000genomes	TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:65688860C>T	ENST00000335257.6	+	9	1202	c.855C>T	c.(853-855)ccC>ccT	p.P285P	PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000581322.1_Silent_p.P285P|PITPNC1_ENST00000299954.9_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	285					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CAGACGCACCCGAATTTCTGT	0.557													7	170					0	0	0	0	T	65688860	C	T	65688860	2	4	62	1	0	0	0	0	0	0	0	1	12021	639	23	1		1	PITPNC1	17	65688860	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08	4176990	65688860	15506350	124	12410											
MIF4GD	57409	broad.mit.edu	37	chr17	73264170	73264170	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaacccccaacctgaatGatggcgtagcacatgcgtcc	10	7	8	16	2	0	2	0	2	0	0	2	2	2	2	5	1	4	2	5	1	4	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:73264170G>T	ENST00000577542.1	-	4	571	c.309C>A	c.(307-309)atC>atA	p.I103I	MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000579297.1_Silent_p.I103I|MIF4GD_ENST00000580571.1_Silent_p.I62I|MIF4GD_ENST00000245551.5_Silent_p.I96I|MIF4GD_ENST00000579119.1_Silent_p.I62I|MIF4GD_ENST00000325102.8_Silent_p.I62I			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	62	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CAACCTGAATGATGGCGTAGC	0.562													5	136					0.184627	0.186613	1	0	T	73264170	G	T	73264170	2	4	62	1	0	0	0	0	0	0	0	1	9653	1280	45	2		2	MIF4GD	17	73264170	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	7575310	73264170	7931040	125	12411											
ABCA7	10347	broad.mit.edu	37	chr19	1043251	1043251	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccagacagcagcctgaGtgagtgactgacctcggttt	8	9	12	12	1	0	5	0	4	0	1	1	5	0	5	4	1	3	2	4	1	0	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:1043251G>A	ENST00000263094.6	+	8	1021		c.e8+1		ABCA7_ENST00000433129.1_Splice_Site|ABCA7_ENST00000435683.2_Splice_Site	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7						phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		AGCAGCCTGAGTGAGTGACTG	0.657													17	168					0	0	0	0	A	1043251	G	A	1043251	5	1	62	1	0	0	0	0	0	0	1	0	37	1043	36	4	817	4	ABCA7	19	1043251	Splice_Site	SNP	G	TCGA-CN-4728-01A-01D-1434-08		1043251	58085732	126	12412											
MPND	84954	broad.mit.edu	37	chr19	4345805	4345805	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcaggagaccgggcagAccttcaactcacccagcgcc	9	5	12	15	2	2	2	2	0	0	2	2	3	2	2	4	3	2	2	4	3	1	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:4345805A>T	ENST00000599840.1	+	3	393	c.358A>T	c.(358-360)Acc>Tcc	p.T120S	MPND_ENST00000262966.8_Missense_Mutation_p.T120S|MPND_ENST00000359935.4_Missense_Mutation_p.T120S			Q8N594	MPND_HUMAN	MPN domain containing	120							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCGGGCAGACCTTCAACTC	0.622													9	86					0	0	0	0	T	4345805	A	T	4345805	3	4	62	1	0	0	0	0	1	0	0	0	9801	275	10	5	368	5	MPND	19	4345805	Missense_Mutation	SNP	A	TCGA-CN-4728-01A-01D-1434-08	3302554	4345805	54783178	127	12413											
MPND	84954	broad.mit.edu	37	chr19	4357346	4357346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctctgcaggacatcgacGcacagatggactaccagctg	11	7	10	13	2	1	1	0	0	1	1	3	4	1	3	1	2	3	3	1	2	1	1	rs61730129		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:4357346G>A	ENST00000599840.1	+	9	1128	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000262966.8_Missense_Mutation_p.A365T|MPND_ENST00000359935.4_Missense_Mutation_p.A315T			Q8N594	MPND_HUMAN	MPN domain containing	365	MPN.						peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACATCGACGCACAGATGGA	0.672													9	41					0	0	0	0	A	4357346	G	A	4357346	3	1	62	1	0	0	0	0	1	0	0	0	9801	1087	38	1	1127	1	MPND	19	4357346	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	11541	4357346	54771637	128	12414											
RFX1	5989	broad.mit.edu	37	chr19	14079491	14079491	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttctggatgggcttgaGcctggagtagaatgggcagg	8	10	16	7	0	2	2	0	1	2	1	2	4	2	4	1	5	1	3	1	5	2	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:14079491G>T	ENST00000254325.4	-	12	1852	c.1616_splice	c.e12-1	p.L540_splice		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	540					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			ATGGGCTTGAGCCTGGAGTAG	0.692													6	52					2.7689e-08	3.19357e-08	1	0	T	14079491	G	T	14079491	5	4	62	1	0	0	0	0	0	0	1	0	13344	985	34	4	1361	4	RFX1	19	14079491	Splice_Site	SNP	G	TCGA-CN-4728-01A-01D-1434-08	9722145	14079491	45049492	129	12415											
MED26	9441	broad.mit.edu	37	chr19	16687957	16687957	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcccggggagctggtgtgCggtcgcacggcgttgacggg	4	6	21	10	6	0	1	0	1	0	0	1	2	0	2	1	7	2	3	1	7	0	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:16687957C>T	ENST00000263390.3	-	3	946	c.684G>A	c.(682-684)ccG>ccA	p.P228P	CTD-3222D19.2_ENST00000409035.1_Silent_p.P236P	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	228	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						AGCTGGTGTGCGGTCGCACGG	0.682													8	113					0	0	0	0	T	16687957	C	T	16687957	2	4	62	1	0	0	0	0	0	0	0	1	9513	755	27	1		1	MED26	19	16687957	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08	2608466	16687957	42441026	130	12416											
SUPT5H	6829	broad.mit.edu	37	chr19	39964120	39964120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagccgcactcctgcccaGagtggggcctgggaccccaa	7	4	14	16	1	0	1	0	0	0	1	1	2	1	2	6	4	2	2	6	4	1	0			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:39964120G>C	ENST00000599117.1	+	26	2818	c.2451G>C	c.(2449-2451)caG>caC	p.Q817H	SUPT5H_ENST00000598725.1_Missense_Mutation_p.Q817H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.Q817H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.Q813H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.Q813H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	817	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCCTGCCCAGAGTGGGGCCT	0.632													13	107					0	0	0	0	C	39964120	G	C	39964120	3	2	62	1	0	0	0	0	1	0	0	0	15489	933	33	2	2545	2	SUPT5H	19	39964120	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	23276163	39964120	19164863	131	12417											
RPS19	6223	broad.mit.edu	37	chr19	42373230	42373230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctccaagagtgtggcccGccgggtcctccaagccctgg	6	6	14	15	2	0	1	0	0	0	1	3	1	3	1	6	4	1	1	6	4	2	0			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:42373230G>A	ENST00000598742.1	+	4	674	c.302G>A	c.(301-303)cGc>cAc	p.R101H	RPS19_ENST00000593863.1_Missense_Mutation_p.R101H|RPS19_ENST00000221975.2_Missense_Mutation_p.R27H	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	101			R -> H (in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit).		endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						AGTGTGGCCCGCCGGGTCCTC	0.617									Diamond-Blackfan Anemia				6	59					0	0	0	0	A	42373230	G	A	42373230	3	1	62	1	0	0	0	0	1	0	0	0	13714	1087	38	1	312	1	RPS19	19	42373230	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	2409110	42373230	16755753	132	12418											
ZNF574	64763	broad.mit.edu	37	chr19	42583864	42583864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttcctgtgtgtagactGtggcctggccttcggcacag	6	11	12	12	1	0	1	0	0	0	1	2	1	1	1	3	3	0	2	3	3	1	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:42583864G>T	ENST00000600245.1	+	2	1761	c.1106G>T	c.(1105-1107)tGt>tTt	p.C369F	ZNF574_ENST00000359044.4_Missense_Mutation_p.C369F|ZNF574_ENST00000222339.7_Missense_Mutation_p.C459F|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C369Y(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TGTGTAGACTGTGGCCTGGCC	0.592													8	96					0.000274275	0.00029465	1	0	T	42583864	G	T	42583864	3	4	62	1	0	0	0	0	1	0	0	0	18101	1377	48	4	1108	4	ZNF574	19	42583864	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	210634	42583864	16545119	133	12419											
PSG4	5672	broad.mit.edu	37	chr19	43699348	43699348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagttcttactcttaggttCacaggtgaaggttaagacat	11	14	10	6	0	3	2	1	1	2	1	3	2	3	2	0	3	1	4	0	3	5	6			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:43699348C>T	ENST00000405312.3	-	4	1024	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.E170K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	263	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTCTTAGGTTCACAGGTGAAG	0.453													39	416					0	0	0	0	T	43699348	C	T	43699348	3	4	62	1	0	0	0	0	1	0	0	0	12736	835	29	2	484	2	PSG4	19	43699348	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	1115484	43699348	15429635	134	12420											
ERCC2	2068	broad.mit.edu	37	chr19	45860923	45860923	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttggcaatggtcggggtTctgtcgtcaaagggctcgat	6	11	17	7	3	2	0	1	0	1	0	5	1	2	0	0	6	0	4	0	6	2	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:45860923T>C	ENST00000391945.4	-	13	1349	c.1272A>G	c.(1270-1272)agA>agG	p.R424R	ERCC2_ENST00000391944.3_Silent_p.R346R	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	424					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGGTCGGGGTTCTGTCGTCAA	0.637			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	65					0	0	0	0	C	45860923	T	C	45860923	2	2	62	1	0	0	0	0	0	0	0	1	5251	1780	62	5		5	ERCC2	19	45860923	Silent	SNP	T	TCGA-CN-4728-01A-01D-1434-08	2161575	45860923	13268060	135	12421											
ZC3H4	23211	broad.mit.edu	37	chr19	47588318	47588318	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagtcaactcacgcccaTgtcctcgtcatagaagtctt	9	11	9	12	2	4	1	3	0	1	1	6	2	5	2	2	1	1	0	2	1	3	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:47588318T>C	ENST00000253048.5	-	8	1139	c.1102A>G	c.(1102-1104)Atg>Gtg	p.M368V	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	368	Gly-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CTCACGCCCATGTCCTCGTCA	0.532													56	331					0	0	0	0	C	47588318	T	C	47588318	3	2	62	1	0	0	0	0	1	0	0	0	17665	1464	51	5	2841	5	ZC3H4	19	47588318	Missense_Mutation	SNP	T	TCGA-CN-4728-01A-01D-1434-08	1727395	47588318	11540665	136	12422											
RASIP1	54922	broad.mit.edu	37	chr19	49224087	49224087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccacgggaggcccatggcGataattggctggcagctcct	7	7	15	12	2	0	0	0	0	0	0	1	2	1	1	3	6	1	3	3	6	1	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:49224087G>A	ENST00000222145.4	-	12	3064	c.2860C>T	c.(2860-2862)Cgc>Tgc	p.R954C		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	954					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGCCCATGGCGATAATTGGCT	0.612													12	246					0	0	0	0	A	49224087	G	A	49224087	3	1	62	1	0	0	0	0	1	0	0	0	13160	1058	37	1	35	1	RASIP1	19	49224087	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	1635769	49224087	9904896	137	12423											
ZNF473	25888	broad.mit.edu	37	chr19	50549541	50549541	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaccatcaaagaatccactCtagagtgaggctgtataaat	15	10	7	9	0	3	3	2	1	1	2	4	3	4	3	2	1	0	2	2	1	6	3			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:50549541C>G	ENST00000595661.1	+	6	2336	c.1841C>G	c.(1840-1842)tCt>tGt	p.S614C	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.S602C|ZNF473_ENST00000391821.2_Missense_Mutation_p.S614C|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Missense_Mutation_p.S614C			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	614					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGAATCCACTCTAGAGTGAGG	0.488													7	74					0	0	0	0	G	50549541	C	G	50549541	3	3	62	1	0	0	0	0	1	0	0	0	18026	913	32	2	1855	2	ZNF473	19	50549541	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	1325454	50549541	8579442	138	12424											
PPP2R1A	5518	broad.mit.edu	37	chr19	52724304	52724305	+	Frame_Shift_Ins	INS	-	-	T																															tttgggaaggagtgggcccaINStgccacaatcatccccaagg																								rs141690261		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:52724304_52724305insT	ENST00000322088.6	+	12	1494_1495	c.1436_1437insT	c.(1435-1437)cgcfs	p.R479fs	PPP2R1A_ENST00000444322.2_Frame_Shift_Ins_p.R424fs|PPP2R1A_ENST00000462990.1_Frame_Shift_Ins_p.R300fs	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	479	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAGTGGGCCCATGCCACAATCA	0.559			Mis		clear cell ovarian carcinoma								21	152	---	---	---	---					T	52724305	-	T	52724304	7	5	62	1	0	1	1	0	0	0	0	0	12458	217	8	0	1482	0	PPP2R1A	19	52724304	Frame_Shift_Ins	INS	-	TCGA-CN-4728-01A-01D-1434-08	2174763	52724304	6404679	139	12425											
ZNF606	80095	broad.mit.edu	37	chr19	58489924	58489924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccacattcattacacctGtatggtttctctccagtatg	8	16	5	12	0	2	0	1	0	1	0	5	0	4	0	3	1	1	3	3	1	3	6			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:58489924G>A	ENST00000341164.4	-	7	2744	c.2124C>T	c.(2122-2124)taC>taT	p.Y708Y	ZNF606_ENST00000536132.1_Silent_p.Y618Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CATTACACCTGTATGGTTTCT	0.393													23	147					0	0	0	0	A	58489924	G	A	58489924	2	1	62	1	0	0	0	0	0	0	0	1	18127	1372	48	4		4	ZNF606	19	58489924	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	5765620	58489924	639059	140	12426											
ZNF329	79673	broad.mit.edu	37	chr19	58639690	58639690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcatagggtttctccccaGaatggatcttttgatgcaca	10	14	8	9	0	3	2	1	1	2	1	4	3	3	3	2	2	1	2	2	2	2	5			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:58639690G>A	ENST00000598312.1	-	4	1414	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	ZNF329_ENST00000358067.4_Missense_Mutation_p.S394F	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTTCTCCCCAGAATGGATCTT	0.468													18	177					0	0	0	0	A	58639690	G	A	58639690	3	1	62	1	0	0	0	0	1	0	0	0	17942	942	33	2	448	2	ZNF329	19	58639690	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	149766	58639690	489293	141	12427											
ZSCAN22	342945	broad.mit.edu	37	chr19	58849700	58849700	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagccatcaaatgtcactGagaccctcatgggaggtgtt	11	9	11	10	0	3	2	3	1	0	2	3	4	3	3	2	2	1	1	2	2	1	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:58849700G>C	ENST00000329665.4	+	3	631	c.484G>C	c.(484-486)Gag>Cag	p.E162Q		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	162					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|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;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AAATGTCACTGAGACCCTCAT	0.567													13	141					0	0	0	0	C	58849700	G	C	58849700	3	2	62	1	0	0	0	0	1	0	0	0	18326	1291	45	2	490	2	ZSCAN22	19	58849700	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	210010	58849700	279283	142	12428											
MKKS	8195	broad.mit.edu	37	chr20	10393770	10393770	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaccacaggtctcagacttGagataactgatgcaaagact	15	8	8	10	0	1	4	1	2	1	3	2	5	1	4	1	1	3	1	1	1	3	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:10393770G>C	ENST00000347364.2	-	3	1155	c.393C>G	c.(391-393)ctC>ctG	p.L131L		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	131					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TCTCAGACTTGAGATAACTGA	0.398													5	87					0	0	0	0	C	10393770	G	C	10393770	2	2	62	1	0	0	0	0	0	0	0	1	9669	1277	45	2		2	MKKS	20	10393770	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08		10393770	52631750	143	12429			3	19		3	3	202	G		4.779226e-07
MKKS	8195	broad.mit.edu	37	chr20	10393844	10393844	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtgtcaagcctaatctctGaacattttcaatcaggttgc	10	13	9	9	0	4	1	3	1	1	0	5	1	4	1	1	2	3	1	1	2	4	4			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:10393844G>C	ENST00000347364.2	-	3	1081	c.319C>G	c.(319-321)Cag>Gag	p.Q107E		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	107					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						CCTAATCTCTGAACATTTTCA	0.393													10	90					0	0	0	0	C	10393844	G	C	10393844	3	2	62	1	0	0	0	0	1	0	0	0	9669	1299	45	2	1409	2	MKKS	20	10393844	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	74	10393844	52631676	144	12430			3	19		3	3	202	G		4.779226e-07
MKKS	8195	broad.mit.edu	37	chr20	10393971	10393971	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtgaccaaaaggtgactGagcagagctgaggactgtga	12	8	15	6	0	0	6	0	5	0	1	0	7	0	7	1	2	2	2	1	2	2	0			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:10393971G>C	ENST00000347364.2	-	3	954	c.192C>G	c.(190-192)ctC>ctG	p.L64L		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	64					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						AAAGGTGACTGAGCAGAGCTG	0.468													10	112					0	0	0	0	C	10393971	G	C	10393971	2	2	62	1	0	0	0	0	0	0	0	1	9669	1277	45	2		2	MKKS	20	10393971	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	127	10393971	52631549	145	12431			3	19		3	3	202	G		4.779226e-07
HNF4A	3172	broad.mit.edu	37	chr20	43030122	43030122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgcaggtgttgacgatggGcaatggtaggtgggggcaga	8	9	20	4	1	0	2	0	1	0	1	0	3	0	2	0	6	1	5	0	6	2	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:43030122G>A	ENST00000316099.3	+	1	199	c.110G>A	c.(109-111)gGc>gAc	p.G37D	HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000415691.1_Missense_Mutation_p.G37D|HNF4A_ENST00000443598.2_Missense_Mutation_p.G37D	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	37					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TTGACGATGGGCAATGGTAGG	0.587													10	96					0	0	0	0	A	43030122	G	A	43030122	3	1	62	1	0	0	0	0	1	0	0	0	7303	1203	42	4	165	4	HNF4A	20	43030122	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	32636151	43030122	19995398	146	12432											
SLPI	6590	broad.mit.edu	37	chr20	43882277	43882277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagtgtcaggacaacatctCttcttccctggacactgcca	10	10	7	14	0	3	0	1	0	2	0	5	2	4	2	2	2	2	0	2	2	2	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:43882277C>T	ENST00000338380.2	-	2	203	c.183G>A	c.(181-183)aaG>aaA	p.K61K		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	61	Trypsin inhibitory domain.|WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GACAACATCTCTTCTTCCCTG	0.517													5	74					0	0	0	0	T	43882277	C	T	43882277	2	4	62	1	0	0	0	0	0	0	0	1	14841	912	32	2		2	SLPI	20	43882277	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08	852155	43882277	19143243	147	12433											
TFAP2C	7022	broad.mit.edu	37	chr20	55208539	55208540	+	Frame_Shift_Ins	INS	-	-	T																															tcctcagctctacgtctaaaINStacaaagtgacagtggctga																										TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:55208539_55208540insT	ENST00000201031.2	+	4	960_961	c.717_718insT	c.(715-720)aaacaafs	p.KQ239fs	TFAP2C_ENST00000544508.1_Frame_Shift_Ins_p.KQ70fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	239					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CTACGTCTAAATACAAAGTGAC	0.535													19	112	---	---	---	---					T	55208540	-	T	55208539	7	5	62	1	0	1	1	0	0	0	0	0	15883	98	4	0	731	0	TFAP2C	20	55208539	Frame_Shift_Ins	INS	-	TCGA-CN-4728-01A-01D-1434-08	11326262	55208539	7816981	148	12434											
PES1	23481	broad.mit.edu	37	chr22	30985250	30985250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtagttggtggccgagcctCgttcatactgggagaggaaa	9	10	15	7	2	1	1	1	0	0	1	2	4	1	2	2	4	2	3	2	4	3	4			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr22:30985250C>T	ENST00000354694.6	-	2	138	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	PES1_ENST00000402284.3_Missense_Mutation_p.R11Q|PES1_ENST00000402281.1_5'UTR|PES1_ENST00000405677.1_5'UTR|PES1_ENST00000335214.6_Missense_Mutation_p.R11Q	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	11	Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GGCCGAGCCTCGTTCATACTG	0.498													4	49					0	0	0	0	T	30985250	C	T	30985250	3	4	62	1	0	0	0	0	1	0	0	0	11804	884	31	1	1790	1	PES1	22	30985250	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08		30985250	20319316	149	12435											
P2RY10	27334	broad.mit.edu	37	chrX	78217001	78217001	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtgacccgctcccgcctCatgagcaaggagagtggttc	7	9	12	13	2	2	3	1	2	1	1	4	4	3	3	3	2	1	3	3	2	1	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chrX:78217001C>T	ENST00000171757.2	+	4	1264	c.984C>T	c.(982-984)ctC>ctT	p.L328L	P2RY10_ENST00000544091.1_Silent_p.L328L	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	328						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GCTCCCGCCTCATGAGCAAGG	0.438													18	119					0	0	0	0	T	78217001	C	T	78217001	2	4	62	1	0	0	0	0	0	0	0	1	11418	813	29	2		2	P2RY10	23	78217001	Silent	SNP	C	TCGA-CN-4728-01A-01D-1434-08		78217001	77053559	150	12436											
CLDN2	9075	broad.mit.edu	37	chrX	106171760	106171760	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcattatctctgtggtggGcatgagatgcacagtcttct	7	14	11	9	0	3	1	0	1	3	1	4	2	3	1	0	2	2	3	0	2	1	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chrX:106171760G>C	ENST00000541806.1	+	2	821	c.302G>C	c.(301-303)gGc>gCc	p.G101A	CLDN2_ENST00000336803.1_Missense_Mutation_p.G101A|CLDN2_ENST00000540876.1_Missense_Mutation_p.G101A	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	101					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCTGTGGTGGGCATGAGATGC	0.572													16	96					0	0	0	0	C	106171760	G	C	106171760	3	2	62	1	0	0	0	0	1	0	0	0	3511	1203	42	4	304	4	CLDN2	23	106171760	Missense_Mutation	SNP	G	TCGA-CN-4728-01A-01D-1434-08	27954759	106171760	49098800	151	12437											
SLC25A5	292	broad.mit.edu	37	chrX	118604391	118604391	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagctggatgatcgcacaGactgtcactgctgttgccgg	8	10	12	11	2	2	2	2	1	0	1	3	3	2	3	1	2	3	4	1	2	0	1			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chrX:118604391G>A	ENST00000317881.8	+	3	770	c.654G>A	c.(652-654)caG>caA	p.Q218Q	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	218					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	TGATCGCACAGACTGTCACTG	0.488													15	72					0	0	0	0	A	118604391	G	A	118604391	2	1	62	1	0	0	0	0	0	0	0	1	14600	933	33	2		2	SLC25A5	23	118604391	Silent	SNP	G	TCGA-CN-4728-01A-01D-1434-08	12432631	118604391	36666169	152	12438											
AFF2	2334	broad.mit.edu	37	chrX	147743550	147743550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggaattccaaagaattCtgtgccccagaatcccaaca	14	8	8	11	0	1	2	0	0	1	2	3	3	3	3	4	1	2	0	4	1	5	2			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chrX:147743550C>A	ENST00000370460.2	+	3	781	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	AFF2_ENST00000370458.1_Missense_Mutation_p.S97Y|AFF2_ENST00000370457.5_Missense_Mutation_p.S97Y|AFF2_ENST00000342251.3_Missense_Mutation_p.S97Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	101					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAGAATTCTGTGCCCCAG	0.403													29	170					7.38237e-10	8.78408e-10	1	0	A	147743550	C	A	147743550	3	1	62	1	0	0	0	0	1	0	0	0	357	913	32	2	312	2	AFF2	23	147743550	Missense_Mutation	SNP	C	TCGA-CN-4728-01A-01D-1434-08	29139159	147743550	7527010	153	12439											
AJAP1	55966	broad.mit.edu	37	chr1	4832510	4832510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcacgagtgcgtcagggCatctgtgcccgtgtacaccg	6	10	12	13	4	3	0	2	0	2	0	4	1	3	0	2	1	3	2	2	1	1	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:4832510C>T	ENST00000378191.4	+	4	1469	c.1088C>T	c.(1087-1089)gCa>gTa	p.A363V	AJAP1_ENST00000378190.3_Missense_Mutation_p.A363V	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	363	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TGCGTCAGGGCATCTGTGCCC	0.587													7	52					0	0	0	0	T	4832510	C	T	4832510	3	4	63	1	0	0	0	0	1	0	0	0	438	710	25	4	1102	4	AJAP1	1	4832510	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08		4832510	244418111	1	12440											
PRAMEF12	390999	broad.mit.edu	37	chr1	12835290	12835290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgcttgcccagaaggttCgccccaggtgaggtgaccca	8	7	12	14	1	0	3	0	2	0	1	1	3	0	3	4	3	2	2	4	3	1	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:12835290C>T	ENST00000357726.4	+	1	307	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	94										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGAAGGTTCGCCCCAGGTG	0.592													34	94					0	0	0	0	T	12835290	C	T	12835290	3	4	63	1	0	0	0	0	1	0	0	0	12504	884	31	1	282	1	PRAMEF12	1	12835290	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	8002780	12835290	236415331	2	12441											
PADI3	51702	broad.mit.edu	37	chr1	17603133	17603133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtggatgagtttctgaGctttgtccctgcccccgatg	5	13	11	12	1	1	2	0	2	1	0	2	4	2	3	4	1	2	2	4	1	0	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:17603133G>T	ENST00000375460.3	+	12	1467	c.1427G>T	c.(1426-1428)aGc>aTc	p.S476I		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	476					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GAGTTTCTGAGCTTTGTCCCT	0.607													11	124					2.80697e-09	2.99507e-09	1	0	T	17603133	G	T	17603133	3	4	63	1	0	0	0	0	1	0	0	0	11450	971	34	4	1473	4	PADI3	1	17603133	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	4767843	17603133	231647488	3	12442											
RAP1GAP	5909	broad.mit.edu	37	chr1	21928278	21928278	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggtcttctgaccagcCggagggctctccctgcgggg	3	9	16	13	2	4	1	0	1	4	0	5	2	4	2	3	6	2	1	3	6	0	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:21928278C>T	ENST00000542643.2	-	22	1931	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	RAP1GAP_ENST00000374765.4_Silent_p.P517P|RAP1GAP_ENST00000290101.4_Silent_p.P581P|RAP1GAP_ENST00000374761.2_Silent_p.P548P|RAP1GAP_ENST00000374763.2_Silent_p.P602P	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	517					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TCTGACCAGCCGGAGGGCTCT	0.667													26	41					0	0	0	0	T	21928278	C	T	21928278	2	4	63	1	0	0	0	0	0	0	0	1	13119	639	23	1		1	RAP1GAP	1	21928278	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	4325145	21928278	227322343	4	12443											
EPS15	2060	broad.mit.edu	37	chr1	51822456	51822456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatttagtcgggcaagcctCtgctcttcctctctctcact	5	15	7	14	1	4	1	1	1	4	0	8	1	5	1	2	1	2	2	2	1	2	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:51822456C>G	ENST00000371733.3	-	25	2703	c.2607G>C	c.(2605-2607)caG>caC	p.Q869H	EPS15_ENST00000396122.4_Missense_Mutation_p.Q546H|EPS15_ENST00000371730.2_Missense_Mutation_p.Q735H	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	869					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GGGCAAGCCTCTGCTCTTCCT	0.413			T	MLL	ALL								32	87					0	0	0	0	G	51822456	C	G	51822456	3	3	63	1	0	0	0	0	1	0	0	0	5230	912	32	2	87	2	EPS15	1	51822456	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	29894178	51822456	197428165	5	12444											
ZYG11B	79699	broad.mit.edu	37	chr1	53222179	53222179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctgcttgaatttcttgaCtactcaccttgagaagttct	9	17	6	9	0	4	3	1	3	3	1	4	4	4	3	1	0	2	2	1	0	4	7			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:53222179C>T	ENST00000294353.6	+	2	225	c.80C>T	c.(79-81)aCt>aTt	p.T27I	ZYG11B_ENST00000545132.1_Missense_Mutation_p.T27I|ZYG11B_ENST00000443756.2_Missense_Mutation_p.T27I	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	27							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AATTTCTTGACTACTCACCTT	0.453													17	152					0	0	0	0	T	53222179	C	T	53222179	3	4	63	1	0	0	0	0	1	0	0	0	18344	565	20	4	86	4	ZYG11B	1	53222179	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	1399723	53222179	196028442	6	12445											
ODF2L	57489	broad.mit.edu	37	chr1	86852648	86852648	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtaaatcttctttctctgaTatagttttaagatggcaaaa	13	16	7	5	0	3	2	0	1	3	1	4	2	3	2	0	2	0	3	0	2	7	7			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:86852648T>C	ENST00000394731.1	-	0	409				ODF2L_ENST00000359242.3_Missense_Mutation_p.I21M|ODF2L_ENST00000478286.2_Missense_Mutation_p.I21M|ODF2L_ENST00000294678.2_Missense_Mutation_p.I21M|ODF2L_ENST00000486215.1_Missense_Mutation_p.I21M|ODF2L_ENST00000370567.1_Missense_Mutation_p.I21M|ODF2L_ENST00000317336.7_Missense_Mutation_p.I21M|ODF2L_ENST00000370566.3_Missense_Mutation_p.I21M			Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like							centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CTTTCTCTGATATAGTTTTAA	0.378													22	131					0	0	0	0	C	86852648	T	C	86852648	1	2	63	1	0	0	0	0	0	0	0	0	10899	1396	49	5		5	ODF2L	1	86852648	Translation_Start_Site	SNP	T	TCGA-CN-4729-01A-01D-1434-08	33630469	86852648	162397973	7	12446											
PIAS3	10401	broad.mit.edu	37	chr1	145581474	145581474	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgcagagcttcgatgctgCcctttatctacagatgaatg	9	12	9	11	1	1	3	0	1	1	2	2	4	1	3	2	0	5	3	2	0	3	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:145581474C>G	ENST00000393045.2	+	9	1145	c.1055C>G	c.(1054-1056)gCc>gGc	p.A352G	PIAS3_ENST00000369298.1_Missense_Mutation_p.A317G	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	352					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCGATGCTGCCCTTTATCTA	0.517													23	141					0	0	0	0	G	145581474	C	G	145581474	3	3	63	1	0	0	0	0	1	0	0	0	11949	739	26	4	1089	4	PIAS3	1	145581474	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	58728826	145581474	103669147	8	12447											
ARNT	405	broad.mit.edu	37	chr1	150784502	150784502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaccccaatagttctattCtgaaaaggggggaaacatag	14	9	9	9	0	3	1	1	1	2	0	3	2	3	2	2	3	1	1	2	3	7	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:150784502C>T	ENST00000358595.5	-	22	2565	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	ARNT_ENST00000515192.1_Missense_Mutation_p.E775K|ARNT_ENST00000505755.1_Missense_Mutation_p.E774K|ARNT_ENST00000354396.2_Missense_Mutation_p.E787K	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	789					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TAGTTCTATTCTGAAAAGGGG	0.393			T	ETV6	AML								16	84					0	0	0	0	T	150784502	C	T	150784502	3	4	63	1	0	0	0	0	1	0	0	0	969	922	32	2	8	2	ARNT	1	150784502	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	5203028	150784502	98466119	9	12448											
VANGL2	57216	broad.mit.edu	37	chr1	160394043	160394043	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcatcctgcagcaccttgaAttctgcatcacgcatgacat	11	10	7	13	1	2	2	1	2	1	0	3	2	3	2	2	0	4	5	2	0	1	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:160394043A>T	ENST00000368061.2	+	7	1749	c.1275A>T	c.(1273-1275)gaA>gaT	p.E425D		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	425					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCACCTTGAATTCTGCATCA	0.567													17	42					0	0	0	0	T	160394043	A	T	160394043	3	4	63	1	0	0	0	0	1	0	0	0	17216	98	4	5	1297	5	VANGL2	1	160394043	Missense_Mutation	SNP	A	TCGA-CN-4729-01A-01D-1434-08	9609541	160394043	88856578	10	12449											
ASPM	259266	broad.mit.edu	37	chr1	197074167	197074167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttcttcttaaataagcaCgccaatgcctctgaattgta	11	15	6	9	1	3	1	0	1	3	0	3	1	3	1	2	0	2	3	2	0	6	7	rs143092798		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:197074167C>T	ENST00000367409.4	-	18	4470	c.4214G>A	c.(4213-4215)cGt>cAt	p.R1405H	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1405	IQ 2.				mitosis	cytoplasm|nucleus	calmodulin binding	p.R1405L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAAATAAGCACGCCAATGCCT	0.313													25	116					0	0	0	0	T	197074167	C	T	197074167	3	4	63	1	0	0	0	0	1	0	0	0	1060	536	19	1	6263	1	ASPM	1	197074167	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	36680124	197074167	52176454	11	12450											
CD34	947	broad.mit.edu	37	chr1	208084367	208084367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagcaaactcagcaagcaaAgcgcggtccagccccgcggc	11	2	12	16	4	1	0	1	0	0	0	2	0	2	0	3	2	6	4	3	2	3	0			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:208084367A>G	ENST00000356522.4	-	1	380	c.59T>C	c.(58-60)cTt>cCt	p.L20P	CD34_ENST00000537704.1_5'UTR|CD34_ENST00000310833.7_Missense_Mutation_p.L20P	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	20					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CAGCAAGCAAAGCGCGGTCCA	0.711													4	11					0	0	0	0	G	208084367	A	G	208084367	3	3	63	1	0	0	0	0	1	0	0	0	3035	72	3	5	1149	5	CD34	1	208084367	Missense_Mutation	SNP	A	TCGA-CN-4729-01A-01D-1434-08	11010200	208084367	41166254	12	12451											
TMEM206	55248	broad.mit.edu	37	chr1	212560368	212560368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggtagatgaagatgaGtaggaccgagaagacgttct	14	7	14	6	2	1	6	0	2	1	4	1	8	1	7	1	2	1	4	1	2	4	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:212560368G>A	ENST00000261455.4	-	3	345	c.208C>T	c.(208-210)Ctc>Ttc	p.L70F	TMEM206_ENST00000535273.1_Missense_Mutation_p.L131F|TMEM206_ENST00000471937.1_5'UTR	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	70						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		ATGAAGATGAGTAGGACCGAG	0.542													22	93					0	0	0	0	A	212560368	G	A	212560368	3	1	63	1	0	0	0	0	1	0	0	0	16225	1029	36	4	868	4	TMEM206	1	212560368	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	4476001	212560368	36690253	13	12452											
NLRP3	114548	broad.mit.edu	37	chr1	247608112	247608112	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacagcagagctgcctcctGcagaacctggggtgagtgtg	10	7	14	10	0	0	3	0	1	0	2	1	3	1	3	3	2	6	3	3	2	2	0			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:247608112G>C	ENST00000366497.2	+	8	3609	c.2829G>C	c.(2827-2829)ctG>ctC	p.L943L	NLRP3_ENST00000366496.2_Silent_p.L943L|NLRP3_ENST00000391828.3_Silent_p.L1000L|NLRP3_ENST00000348069.2_Silent_p.L886L|NLRP3_ENST00000391827.2_Silent_p.L943L|NLRP3_ENST00000336119.3_Silent_p.L1000L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	1000					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCTGCCTCCTGCAGAACCTGG	0.562													12	65					0	0	0	0	C	247608112	G	C	247608112	2	2	63	1	0	0	0	0	0	0	0	1	10548	1306	46	4		4	NLRP3	1	247608112	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	35047744	247608112	1642509	14	12453											
OR13G1	441933	broad.mit.edu	37	chr1	247836069	247836069	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagctgggacatgcagcctGcatatgaaatggtattttct	11	12	11	7	0	1	2	0	1	1	1	1	3	1	3	1	2	4	4	1	2	3	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:247836069G>C	ENST00000359688.2	-	1	296	c.275C>G	c.(274-276)gCa>gGa	p.A92G	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATGCAGCCTGCATATGAAAT	0.483													6	56					0	0	0	0	C	247836069	G	C	247836069	3	2	63	1	0	0	0	0	1	0	0	0	11013	1319	46	4	652	4	OR13G1	1	247836069	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	227957	247836069	1414552	15	12454											
ZNF672	79894	broad.mit.edu	37	chr1	249142664	249142664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaacggccagcggagtgCgcagagtgcggcaagtgctt	8	5	18	10	5	0	1	0	0	0	1	0	3	0	2	1	4	5	3	1	4	2	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:249142664C>T	ENST00000306562.3	+	4	1937	c.1191C>T	c.(1189-1191)tgC>tgT	p.C397C		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAGCGGAGTGCGCAGAGTGCG	0.677													3	14					0	0	0	0	T	249142664	C	T	249142664	2	4	63	1	0	0	0	0	0	0	0	1	18174	776	27	1		1	ZNF672	1	249142664	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	1306595	249142664	107957	16	12455											
DNMT3A	1788	broad.mit.edu	37	chr2	25468890	25468890	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggcaacaaacttaccCtcaatgttccggcacttctg	10	10	6	15	1	2	0	1	0	1	0	4	0	4	0	3	2	3	3	3	2	4	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:25468890C>G	ENST00000264709.3	-	12	1810	c.1474_splice	c.e12+1	p.E491_splice	DNMT3A_ENST00000321117.5_Splice_Site_p.E491_splice|DNMT3A_ENST00000380746.4_Splice_Site_p.E302_splice|DNMT3A_ENST00000402667.1_Splice_Site_p.E268_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	491	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAACTTACCCTCAATGTTCC	0.607			"Mis, F, N, S"		AML								11	79					0	0	0	0	G	25468890	C	G	25468890	5	3	63	1	0	0	0	0	0	0	1	0	4712	695	24	4	1313	4	DNMT3A	2	25468890	Splice_Site	SNP	C	TCGA-CN-4729-01A-01D-1434-08		25468890	217730483	17	12456											
FAM179A	165186	broad.mit.edu	37	chr2	29249763	29249763	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacgcggctgagcacctctCagctgtgctggagcagatcg	8	8	13	12	3	1	2	1	1	1	1	3	3	1	3	1	2	5	5	1	2	1	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:29249763C>G	ENST00000379558.4	+	14	2249	c.1898C>G	c.(1897-1899)tCa>tGa	p.S633*	FAM179A_ENST00000403861.2_Nonsense_Mutation_p.S578*|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	633							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGCACCTCTCAGCTGTGCTG	0.597													4	10					0	0	0	0	G	29249763	C	G	29249763	4	3	63	1	0	0	0	0	0	1	0	0	5546	838	29	2	1948	2	FAM179A	2	29249763	Nonsense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	3780873	29249763	213949610	18	12457											
BIRC6	57448	broad.mit.edu	37	chr2	32664671	32664671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaatggtggtatgcgtcctGtagtaaggcttccatcccta	8	13	11	9	1	0	0	0	0	0	0	3	0	3	0	3	3	1	5	3	3	5	6			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:32664671G>T	ENST00000421745.2	+	16	3861	c.3727G>T	c.(3727-3729)Gta>Tta	p.V1243L		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1243					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TATGCGTCCTGTAGTAAGGCT	0.413													3	65					0.00909568	0.00922944	1	0	T	32664671	G	T	32664671	3	4	63	1	0	0	0	0	1	0	0	0	1443	1377	48	4	3789	4	BIRC6	2	32664671	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	3414908	32664671	210534702	19	12458											
CYP26B1	56603	broad.mit.edu	37	chr2	72361996	72361996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcactgcagcttctccCggatggccttctccagcccc	4	10	10	17	1	2	0	0	0	2	0	4	1	2	1	5	2	4	3	5	2	0	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:72361996C>T	ENST00000001146.2	-	4	958	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R177Q|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R61Q	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	252					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGCTTCTCCCGGATGGCCTT	0.602													18	70					0	0	0	0	T	72361996	C	T	72361996	3	4	63	1	0	0	0	0	1	0	0	0	4188	652	23	1	795	1	CYP26B1	2	72361996	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	39697325	72361996	170837377	20	12459											
GPAT2	150763	broad.mit.edu	37	chr2	96690176	96690176	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcacctcaagactcaccGcccacagcctcgctcaggaa	10	5	8	18	3	3	1	3	0	0	1	4	2	3	2	4	1	2	2	4	1	2	0			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:96690176G>A	ENST00000434632.1	-	16	2127	c.1669_splice	c.e16+1	p.G556_splice	GPAT2_ENST00000453542.1_Splice_Site_p.G485_splice|GPAT2_ENST00000359548.4_Splice_Site_p.G556_splice|GPAT2_ENST00000377137.3_Splice_Site_p.G556_splice			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	556					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						AAGACTCACCGCCCACAGCCT	0.632													9	61					0	0	0	0	A	96690176	G	A	96690176	5	1	63	1	0	0	0	0	0	0	1	0	6638	1101	38	1	751	1	GPAT2	2	96690176	Splice_Site	SNP	G	TCGA-CN-4729-01A-01D-1434-08	24328180	96690176	146509197	21	12460											
NCK2	8440	broad.mit.edu	37	chr2	106497993	106497993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtcatggagaagtgcagcGacggttggtggcggggcagc	7	6	19	9	4	1	1	1	0	0	1	1	3	1	1	1	6	3	3	1	6	1	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:106497993G>A	ENST00000233154.4	+	4	878	c.436G>A	c.(436-438)Gac>Aac	p.D146N	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.D146N	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	146	SH3 2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GAAGTGCAGCGACGGTTGGTG	0.637													23	40					0	0	0	0	A	106497993	G	A	106497993	3	1	63	1	0	0	0	0	1	0	0	0	10290	1058	37	1	442	1	NCK2	2	106497993	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	9807817	106497993	136701380	22	12461											
GCC2	9648	broad.mit.edu	37	chr2	109085540	109085540	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgaagcaagaggttgaGgtaagtcaatattttagtgt	16	12	11	2	0	1	3	1	2	0	1	1	3	1	3	0	2	1	3	0	2	8	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:109085540G>C	ENST00000309863.6	+	5	1035	c.321_splice	c.e5+1	p.E107_splice		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	107					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAGAGGTTGAGGTAAGTCAAT	0.303													19	97					0	0	0	0	C	109085540	G	C	109085540	5	2	63	1	0	0	0	0	0	0	1	0	6335	1014	35	4	339	4	GCC2	2	109085540	Splice_Site	SNP	G	TCGA-CN-4729-01A-01D-1434-08	2587547	109085540	134113833	23	12462											
CNTNAP5	129684	broad.mit.edu	37	chr2	125284919	125284921	+	In_Frame_Del	DEL	GCT	GCT	-																															tcccattaaggctttccaagGctgcatgaggctcatcttta																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:125284919_125284921delGCT	ENST00000431078.1	+	10	1896_1898	c.1532_1534delGCT	c.(1531-1536)ggc>g	p.GC511del		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	511	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G511V(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCTTTCCAAGGCTGCATGAGGCT	0.433													12	101	---	---	---	---					-	125284921	GCT	-	125284919	7	5	63	1	0	1	0	1	0	0	0	0	3680	1203	42	0	1570	0	CNTNAP5	2	125284919	In_Frame_Del	DEL	GCT	TCGA-CN-4729-01A-01D-1434-08	16199379	125284919	117914454	24	12463											
BIN1	274	broad.mit.edu	37	chr2	127821184	127821184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagttttcctccaggcccGcgatgctctggaacgtgttg	6	11	13	11	3	1	0	0	0	1	0	3	3	3	2	3	3	2	3	3	3	2	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:127821184G>A	ENST00000316724.5	-	9	1148	c.737C>T	c.(736-738)gCg>gTg	p.A246V	BIN1_ENST00000259238.4_Missense_Mutation_p.A215V|BIN1_ENST00000346226.3_Missense_Mutation_p.A215V|BIN1_ENST00000393041.3_Missense_Mutation_p.A215V|BIN1_ENST00000357970.3_Missense_Mutation_p.A246V|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000393040.3_Missense_Mutation_p.A215V|BIN1_ENST00000352848.3_Missense_Mutation_p.A215V|BIN1_ENST00000351659.3_Missense_Mutation_p.A246V|BIN1_ENST00000376113.2_Missense_Mutation_p.A215V|BIN1_ENST00000348750.4_Missense_Mutation_p.A215V|BIN1_ENST00000409400.1_Missense_Mutation_p.A215V	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	246	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTCCAGGCCCGCGATGCTCTG	0.602													9	28					0	0	0	0	A	127821184	G	A	127821184	3	1	63	1	0	0	0	0	1	0	0	0	1437	1087	38	1	1137	1	BIN1	2	127821184	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	2536265	127821184	115378189	25	12464											
AMMECR1L	83607	broad.mit.edu	37	chr2	128631411	128631411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatttactcactaggggtcaTtggtgaatctaggaagtcgt	10	13	12	6	1	3	1	2	1	1	0	4	3	3	2	0	4	1	0	0	4	5	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:128631411T>C	ENST00000272647.5	-	3	658	c.398A>G	c.(397-399)aAt>aGt	p.N133S	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.N133S	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	133	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CTAGGGGTCATTGGTGAATCT	0.507													21	264					0	0	0	0	C	128631411	T	C	128631411	3	2	63	1	0	0	0	0	1	0	0	0	579	1493	52	5	558	5	AMMECR1L	2	128631411	Missense_Mutation	SNP	T	TCGA-CN-4729-01A-01D-1434-08	810227	128631411	114567962	26	12465											
LRP1B	53353	broad.mit.edu	37	chr2	141533692	141533692	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgcttctttatcatagacTttcatatgaactaccccaga	11	15	5	10	0	3	3	2	1	1	2	3	3	3	3	2	0	3	1	2	0	5	7			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:141533692T>C	ENST00000389484.3	-	33	6446	c.5475A>G	c.(5473-5475)aaA>aaG	p.K1825K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1825					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATCATAGACTTTCATATGAA	0.418										TSP Lung(27;0.18)			42	108					0	0	0	0	C	141533692	T	C	141533692	2	2	63	1	0	0	0	0	0	0	0	1	9019	1606	56	5		5	LRP1B	2	141533692	Silent	SNP	T	TCGA-CN-4729-01A-01D-1434-08	12902281	141533692	101665681	27	12466											
SP5	389058	broad.mit.edu	37	chr2	171573747	171573747	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacgcgctcggacgagctgCagcggcacctgcggactcac	7	5	13	16	6	2	0	2	0	0	0	3	3	2	2	1	3	4	4	1	3	0	0			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:171573747C>T	ENST00000375281.3	+	2	1192	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*		NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						GGACGAGCTGCAGCGGCACCT	0.667													6	22					0	0	0	0	T	171573747	C	T	171573747	4	4	63	1	0	0	0	0	0	1	0	0	15055	711	25	4	1036	4	SP5	2	171573747	Nonsense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	30040055	171573747	71625626	28	12467											
TTN	7273	broad.mit.edu	37	chr2	179411014	179411014	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaagtgtattttccactgtCacttctgtcacagaacttga	11	15	6	9	0	3	2	2	1	1	1	4	2	4	2	1	0	1	1	1	0	4	6			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:179411014C>G	ENST00000589042.1	-	342	95268	c.95044G>C	c.(95044-95046)Gac>Cac	p.D31682H	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22809H|TTN_ENST00000359218.5_Missense_Mutation_p.D22742H|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D22617H|TTN_ENST00000342992.6_Missense_Mutation_p.D29114H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D30041H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30041	Fibronectin type-III 130.						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)			TTTCCACTGTCACTTCTGTCA	0.448													62	234					0	0	0	0	G	179411014	C	G	179411014	3	3	63	1	0	0	0	0	1	0	0	0	16831	826	29	2	13019	2	TTN	2	179411014	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	7837267	179411014	63788359	29	12468											
TTN	7273	broad.mit.edu	37	chr2	179442069	179442069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatggaagatgttggggttGaagttatctgagtgatatct	10	14	14	3	0	2	4	0	3	2	1	2	5	2	5	0	3	0	4	0	3	4	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:179442069G>A	ENST00000589042.1	-	324	69217	c.68993C>T	c.(68992-68994)tCa>tTa	p.S22998L	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S14125L|TTN_ENST00000359218.5_Missense_Mutation_p.S14058L|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S13933L|TTN_ENST00000342992.6_Missense_Mutation_p.S20430L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S21357L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21357	Fibronectin type-III 67.						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)			TGTTGGGGTTGAAGTTATCTG	0.423													5	76					0	0	0	0	A	179442069	G	A	179442069	3	1	63	1	0	0	0	0	1	0	0	0	16831	1294	45	2	39142	2	TTN	2	179442069	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	31055	179442069	63757304	30	12469											
TTN	7273	broad.mit.edu	37	chr2	179600777	179600778	+	Frame_Shift_Del	DEL	GA	GA	-																															ttgtaagggacttaggtctgGagagaaaggttggtggatat																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:179600777_179600778delGA	ENST00000589042.1	-	50	14619_14620	c.14395_14396delTC	c.(14395-14397)cfs	p.S4799fs	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.S3555fs|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.S4482fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4482	Ig-like 28.						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)			CTTAGGTCTGGAGAGAAAGGTT	0.431													29	92	---	---	---	---					-	179600778	GA	-	179600777	7	5	63	1	0	1	0	1	0	0	0	0	16831	1174	41	0	90385	0	TTN	2	179600777	Frame_Shift_Del	DEL	GA	TCGA-CN-4729-01A-01D-1434-08	158708	179600777	63598596	31	12470											
SATB2	23314	broad.mit.edu	37	chr2	200213543	200213544	+	Frame_Shift_Ins	INS	-	-	T																															acggaagagttggttggctcINStggcttaactgctctgggga																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:200213543_200213544insT	ENST00000443023.1	-	6	2341_2342	c.876_877insA	c.(874-879)ccagccfs	p.A293fs	SATB2_ENST00000457245.1_Frame_Shift_Ins_p.A352fs|SATB2_ENST00000260926.5_Frame_Shift_Ins_p.A352fs|SATB2_ENST00000417098.1_Frame_Shift_Ins_p.A352fs|SATB2_ENST00000428695.1_Frame_Shift_Ins_p.A234fs			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	352						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGGTTGGCTCTGGCTTAACTG	0.54													59	181	---	---	---	---					T	200213544	-	T	200213543	7	5	63	1	0	1	1	0	0	0	0	0	13940	922	32	0	1167	0	SATB2	2	200213543	Frame_Shift_Ins	INS	-	TCGA-CN-4729-01A-01D-1434-08	20612766	200213543	42985830	32	12471											
ERBB4	2066	broad.mit.edu	37	chr2	212589879	212589879	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactgacgtaaggtccgtaGcatctgccgtcacattgttc	8	12	9	12	3	3	1	2	1	1	0	5	1	4	1	2	1	2	4	2	1	2	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:212589879G>A	ENST00000342788.4	-	6	973	c.663C>T	c.(661-663)tgC>tgT	p.C221C	ERBB4_ENST00000402597.1_Silent_p.C221C|ERBB4_ENST00000436443.1_Silent_p.C221C|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	221	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AAGGTCCGTAGCATCTGCCGT	0.498										TSP Lung(8;0.080)			30	114					0	0	0	0	A	212589879	G	A	212589879	2	1	63	1	0	0	0	0	0	0	0	1	5247	963	34	4		4	ERBB4	2	212589879	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	12376336	212589879	30609494	33	12472											
FAM124B	79843	broad.mit.edu	37	chr2	225266461	225266461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaagatggacagtcatggCcagaggcccctgtgtctcat	11	8	12	10	0	2	3	2	0	1	3	3	4	2	4	3	3	0	0	3	3	2	0			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:225266461C>T	ENST00000389874.3	-	1	250	c.25G>A	c.(25-27)Gcc>Acc	p.A9T	FAM124B_ENST00000243806.2_Missense_Mutation_p.A9T|FAM124B_ENST00000409685.3_Missense_Mutation_p.A9T	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	9							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		ACAGTCATGGCCAGAGGCCCC	0.542													17	63					0	0	0	0	T	225266461	C	T	225266461	3	4	63	1	0	0	0	0	1	0	0	0	5467	739	26	4	1441	4	FAM124B	2	225266461	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	12676582	225266461	17932912	34	12473											
COL4A3	1285	broad.mit.edu	37	chr2	228153932	228153932	+	Missense_Mutation	SNP	T	T	A																															gatgccaggtttaaagggccTcaaaggactacccggaccag																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:228153932T>A	ENST00000396578.3	+	35	3110	c.2948T>A	c.(2947-2949)cTc>cAc	p.L983H	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	983	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTAAAGGGCCTCAAAGGACTA	0.413													3	36					0	0	0	0	A	228153932	T	A	228153932	3	1	63	1	0	0	0	0	1	0	0	0	3721	1551	54	5	3086	5	COL4A3	2	228153932	Missense_Mutation	SNP	T	TCGA-CN-4729-01A-01D-1434-08	2887471	228153932	15045441	35	12474	105	2									
COL4A3	1285	broad.mit.edu	37	chr2	228153933	228153933	+	Silent	SNP	C	C	G																															atgccaggtttaaagggcctCaaaggactacccggaccagc																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:228153933C>G	ENST00000396578.3	+	35	3111	c.2949C>G	c.(2947-2949)ctC>ctG	p.L983L	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	983	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TAAAGGGCCTCAAAGGACTAC	0.418													3	37					0	0	0	0	G	228153933	C	G	228153933	2	3	63	1	0	0	0	0	0	0	0	1	3721	813	29	2		2	COL4A3	2	228153933	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	1	228153933	15045440	36	12475	105	2									
SEPT2	4735	broad.mit.edu	37	chr2	242277151	242277151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtgaatattgtgcctgtCattgcaaaagctgacactct	12	12	9	8	0	2	2	1	2	1	0	2	2	2	2	1	1	3	2	1	1	5	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:242277151C>T	ENST00000391973.2	+	7	1068	c.540C>T	c.(538-540)gtC>gtT	p.V180V	SEPT2_ENST00000407971.1_Silent_p.V140V|SEPT2_ENST00000401990.1_Silent_p.V190V|SEPT2_ENST00000391971.2_Silent_p.V180V|SEPT2_ENST00000360051.3_Silent_p.V180V|SEPT2_ENST00000402092.2_Silent_p.V180V	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	180					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TTGTGCCTGTCATTGCAAAAG	0.463													25	120					0	0	0	0	T	242277151	C	T	242277151	2	4	63	1	0	0	0	0	0	0	0	1	14151	813	29	2		2	SEPT2	2	242277151	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	14123218	242277151	922222	37	12476											
XIRP1	165904	broad.mit.edu	37	chr3	39227663	39227663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccagctttccgaagacCgtcctggatggggttggaag	8	8	14	11	2	0	1	0	0	0	1	2	4	2	3	5	4	2	2	5	4	2	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:39227663C>A	ENST00000340369.3	-	2	3502	c.3274G>T	c.(3274-3276)Ggt>Tgt	p.G1092C	XIRP1_ENST00000396251.1_Missense_Mutation_p.G1092C|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1092							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTCCGAAGACCGTCCTGGATG	0.602													15	86					1.02788e-11	1.14393e-11	1	0	A	39227663	C	A	39227663	3	1	63	1	0	0	0	0	1	0	0	0	17525	652	23	3	2261	3	XIRP1	3	39227663	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08		39227663	158794767	38	12477											
OR5AC2	81050	broad.mit.edu	37	chr3	97806283	97806283	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctggtcaatttcttagaCaagactgcaatgatatccct	12	13	7	9	0	2	3	1	1	1	2	3	3	3	3	1	1	2	2	1	1	5	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:97806283C>T	ENST00000358642.2	+	1	267	c.267C>T	c.(265-267)gaC>gaT	p.D89D		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATTTCTTAGACAAGACTGCAA	0.428													58	354					0	0	0	0	T	97806283	C	T	97806283	2	4	63	1	0	0	0	0	0	0	0	1	11212	477	17	4		4	OR5AC2	3	97806283	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	58578620	97806283	100216147	39	12478											
ITGB5	3693	broad.mit.edu	37	chr3	124515329	124515329	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactcgctctcgaagcaggaGcactggttgcagctgcagtc	9	8	12	12	2	1	0	0	0	1	0	4	2	1	1	0	2	6	7	0	2	2	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:124515329G>A	ENST00000296181.4	-	10	1895	c.1599C>T	c.(1597-1599)tgC>tgT	p.C533C	ITGB5_ENST00000488466.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	533	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CGAAGCAGGAGCACTGGTTGC	0.597													36	133					0	0	0	0	A	124515329	G	A	124515329	2	1	63	1	0	0	0	0	0	0	0	1	7951	963	34	4		4	ITGB5	3	124515329	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	26709046	124515329	73507101	40	12479											
TRIM42	287015	broad.mit.edu	37	chr3	140406816	140406816	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtctgatcgcctactccaAggaagccctgaaggagactg	10	8	12	11	1	1	3	0	2	1	1	3	5	2	4	3	3	2	0	3	3	4	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:140406816A>T	ENST00000286349.3	+	3	1483	c.1292A>T	c.(1291-1293)aAg>aTg	p.K431M		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	431						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCTACTCCAAGGAAGCCCTG	0.502													7	75					0	0	0	0	T	140406816	A	T	140406816	3	4	63	1	0	0	0	0	1	0	0	0	16612	72	3	5	1302	5	TRIM42	3	140406816	Missense_Mutation	SNP	A	TCGA-CN-4729-01A-01D-1434-08	15891487	140406816	57615614	41	12480											
ZIC4	84107	broad.mit.edu	37	chr3	147108849	147108849	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccagagctgggcggcggCgagcgcccgtgcaccttcat	6	6	15	14	5	1	1	1	0	0	1	1	2	1	1	3	3	4	2	3	3	1	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:147108849C>T	ENST00000383075.3	-	4	1385	c.873G>A	c.(871-873)tcG>tcA	p.S291S	ZIC4_ENST00000525172.2_Silent_p.S341S|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Silent_p.S329S|ZIC4_ENST00000491672.1_Silent_p.S85S|ZIC4_ENST00000484399.1_Silent_p.S291S|ZIC4_ENST00000473123.1_Silent_p.S291S	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	291						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGGGCGGCGGCGAGCGCCCGT	0.672													14	55					0	0	0	0	T	147108849	C	T	147108849	2	4	63	1	0	0	0	0	0	0	0	1	17776	755	27	1		1	ZIC4	3	147108849	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	6702033	147108849	50913581	42	12481											
MED12L	116931	broad.mit.edu	37	chr3	151105633	151105633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaagcagaaggtgtccccGtgggacttgtttgagggtca	9	9	15	8	2	1	2	1	1	0	1	2	4	2	3	2	3	1	2	2	3	2	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:151105633G>A	ENST00000474524.1	+	35	5057	c.5019G>A	c.(5017-5019)ccG>ccA	p.P1673P	MED12L_ENST00000273432.4_Silent_p.P1533P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1673					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.P1673L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGTGTCCCCGTGGGACTTGT	0.532													15	119					0	0	0	0	A	151105633	G	A	151105633	2	1	63	1	0	0	0	0	0	0	0	1	9498	1132	40	1		1	MED12L	3	151105633	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	3996784	151105633	46916797	43	12482											
PSMD2	5708	broad.mit.edu	37	chr3	184018206	184018206	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaaactgaaggaaatctatGagaacatggcccctggggag	14	6	13	8	0	1	2	0	2	1	1	1	5	1	4	2	4	2	1	2	4	5	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:184018206G>C	ENST00000310118.4	+	3	889	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	PSMD2_ENST00000459910.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	111					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GGAAATCTATGAGAACATGGC	0.458													12	117					0	0	0	0	C	184018206	G	C	184018206	3	2	63	1	0	0	0	0	1	0	0	0	12777	1291	45	2	341	2	PSMD2	3	184018206	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	32912573	184018206	14004224	44	12483											
IL1RAP	3556	broad.mit.edu	37	chr3	190362143	190362143	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtttactggctagagatggtCctattttaccgggctcattt	7	16	10	8	1	1	1	1	0	0	1	2	2	2	1	2	3	2	3	2	3	4	7			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:190362143C>T	ENST00000412504.2	+	9	1410	c.1158C>T	c.(1156-1158)gtC>gtT	p.V386V	IL1RAP_ENST00000439062.1_Silent_p.V386V|IL1RAP_ENST00000072516.3_Silent_p.V386V|IL1RAP_ENST00000447382.1_Silent_p.V386V|IL1RAP_ENST00000317757.3_Silent_p.V386V|IL1RAP_ENST00000443369.2_Silent_p.V386V			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	386					inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TAGAGATGGTCCTATTTTACC	0.398													17	87					0	0	0	0	T	190362143	C	T	190362143	2	4	63	1	0	0	0	0	0	0	0	1	7713	842	30	2		2	IL1RAP	3	190362143	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	6343937	190362143	7660287	45	12484											
RNF168	165918	broad.mit.edu	37	chr3	196198801	196198801	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctagtagaatttggcatCtttcttctattaactgactg	9	18	6	8	0	4	2	0	1	4	1	5	2	4	2	0	1	1	2	0	1	5	7			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:196198801C>T	ENST00000318037.3	-	6	2199	c.1605G>A	c.(1603-1605)aaG>aaA	p.K535K		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	535					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		AATTTGGCATCTTTCTTCTAT	0.398													11	450					0	0	0	0	T	196198801	C	T	196198801	2	4	63	1	0	0	0	0	0	0	0	1	13544	912	32	2		2	RNF168	3	196198801	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	5836658	196198801	1823629	46	12485											
RBPJ	3516	broad.mit.edu	37	chr4	26422343	26422343	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagtcattgaaaaatgcTgactgtatgtatgcttttct	12	15	8	6	0	2	2	1	2	1	0	2	2	2	2	0	0	3	5	0	0	5	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:26422343T>C	ENST00000342320.4	+	5	665	c.489T>C	c.(487-489)gcT>gcC	p.A163A	RBPJ_ENST00000504907.1_Silent_p.A163A|RBPJ_ENST00000507561.1_Silent_p.A142A|RBPJ_ENST00000342295.1_Silent_p.A177A|RBPJ_ENST00000355476.3_Silent_p.A163A|RBPJ_ENST00000345843.3_Silent_p.A162A|RBPJ_ENST00000348160.4_Silent_p.A164A|RBPJ_ENST00000361572.6_Silent_p.A177A			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	177					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGAAAAATGCTGACTGTATGT	0.353													43	31					0	0	0	0	C	26422343	T	C	26422343	2	2	63	1	0	0	0	0	0	0	0	1	13243	1567	55	5		5	RBPJ	4	26422343	Silent	SNP	T	TCGA-CN-4729-01A-01D-1434-08		26422343	164731933	47	12486											
N4BP2	55728	broad.mit.edu	37	chr4	40123657	40123657	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttattttactgattctcTtgaaataaagagaaatgaaa	18	15	5	3	0	1	4	0	3	1	1	2	5	1	4	0	0	1	0	0	0	8	7			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:40123657T>C	ENST00000261435.6	+	9	4342	c.3926T>C	c.(3925-3927)cTt>cCt	p.L1309P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1309						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ACTGATTCTCTTGAAATAAAG	0.259													3	34					0	0	0	0	C	40123657	T	C	40123657	3	2	63	1	0	0	0	0	1	0	0	0	10180	1609	56	5	3952	5	N4BP2	4	40123657	Missense_Mutation	SNP	T	TCGA-CN-4729-01A-01D-1434-08	13701314	40123657	151030619	48	12487											
KIAA1211	57482	broad.mit.edu	37	chr4	57182127	57182127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacagagttcacgacctcgtCggacagcgagactgcaaacg	12	5	11	13	5	1	2	1	0	0	2	3	5	1	3	1	1	3	2	1	1	1	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:57182127C>T	ENST00000504228.1	+	6	2564	c.2459C>T	c.(2458-2460)tCg>tTg	p.S820L	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S813L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S820L			Q6ZU35	K1211_HUMAN	KIAA1211	820										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ACGACCTCGTCGGACAGCGAG	0.532													20	98					0	0	0	0	T	57182127	C	T	57182127	3	4	63	1	0	0	0	0	1	0	0	0	8266	893	31	1	2477	1	KIAA1211	4	57182127	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	17058470	57182127	133972149	49	12488											
ANKRD17	26057	broad.mit.edu	37	chr4	73963824	73963824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccagaaacagattttctctCttcctttggaaatgtaacaa	13	13	6	9	0	2	2	0	0	2	2	4	3	3	3	2	1	2	1	2	1	4	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:73963824C>G	ENST00000358602.4	-	26	5103	c.4987G>C	c.(4987-4989)Gag>Cag	p.E1663Q	ANKRD17_ENST00000509867.2_Missense_Mutation_p.E1550Q|ANKRD17_ENST00000330838.6_Missense_Mutation_p.E1412Q	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1663	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATTTTCTCTCTTCCTTTGGA	0.363													16	182					0	0	0	0	G	73963824	C	G	73963824	3	3	63	1	0	0	0	0	1	0	0	0	646	922	32	2	2860	2	ANKRD17	4	73963824	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	16781697	73963824	117190452	50	12489											
FAT4	79633	broad.mit.edu	37	chr4	126336921	126336921	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccatattctgtaaatgTccctgagaatttagggacac	12	13	7	9	0	2	1	0	1	2	1	4	3	3	2	2	1	0	1	2	1	5	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:126336921T>C	ENST00000394329.3	+	5	6816	c.6803T>C	c.(6802-6804)gTc>gCc	p.V2268A	FAT4_ENST00000335110.5_Missense_Mutation_p.V566A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2268	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTGTAAATGTCCCTGAGAAT	0.368													10	81					0	0	0	0	C	126336921	T	C	126336921	3	2	63	1	0	0	0	0	1	0	0	0	5737	1667	58	5	6821	5	FAT4	4	126336921	Missense_Mutation	SNP	T	TCGA-CN-4729-01A-01D-1434-08	52373097	126336921	64817355	51	12490											
GRIA2	2891	broad.mit.edu	37	chr4	158284089	158284089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcgaaacgaatgaaggtgGcaaagaatgcacagaatatt	18	6	12	5	2	0	3	0	1	0	2	0	5	0	3	0	3	2	2	0	3	7	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:158284089G>T	ENST00000296526.7	+	15	2870	c.2545G>T	c.(2545-2547)Gca>Tca	p.A849S	GRIA2_ENST00000449365.1_Missense_Mutation_p.A802S|GRIA2_ENST00000264426.9_Missense_Mutation_p.A849S|GRIA2_ENST00000393815.2_Missense_Mutation_p.A802S|GRIA2_ENST00000507898.1_Missense_Mutation_p.A802S	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	849					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AATGAAGGTGGCAAAGAATGC	0.433													24	102					2.89027e-11	3.14887e-11	1	0	T	158284089	G	T	158284089	3	4	63	1	0	0	0	0	1	0	0	0	6818	1203	42	4	2722	4	GRIA2	4	158284089	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	31947168	158284089	32870187	52	12491											
SEMA5A	9037	broad.mit.edu	37	chr5	9108255	9108255	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaaggctactcaccacAttgcagcctgcacagtcagg	13	6	10	12	0	2	2	2	0	0	2	2	2	2	2	2	2	4	3	2	2	3	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:9108255A>G	ENST00000382496.5	-	16	2735	c.2070T>C	c.(2068-2070)aaT>aaC	p.N690N		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	690	TSP type-1 3.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TACTCACCACATTGCAGCCTG	0.542													13	52					0	0	0	0	G	9108255	A	G	9108255	2	3	63	1	0	0	0	0	0	0	0	1	14124	214	8	5		5	SEMA5A	5	9108255	Silent	SNP	A	TCGA-CN-4729-01A-01D-1434-08		9108255	171807005	53	12492											
MARCH6	10299	broad.mit.edu	37	chr5	10414543	10414543	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttatgttttactttgcAgatatttctgttgattgtct	6	22	6	7	0	2	2	0	1	2	1	3	2	3	2	1	0	2	3	1	0	3	8			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:10414543A>T	ENST00000274140.5	+	20	2028		c.e20-1		MARCH6_ENST00000510792.1_Splice_Site|MARCH6_ENST00000449913.2_Splice_Site|MARCH6_ENST00000503788.1_Splice_Site	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase						protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTTACTTTGCAGATATTTCTG	0.348													64	112					0	0	0	0	T	10414543	A	T	10414543	5	4	63	1	0	0	0	0	0	0	1	0	9374	202	7	5	1973	5	MARCH6	5	10414543	Splice_Site	SNP	A	TCGA-CN-4729-01A-01D-1434-08	1306288	10414543	170500717	54	12493											
CDH10	1008	broad.mit.edu	37	chr5	24593422	24593422	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttcaagtaagaaaaattGattccacatccaaccacgtt	15	12	4	10	1	2	2	1	1	1	1	4	2	4	2	3	0	1	2	3	0	5	6			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:24593422G>C	ENST00000264463.4	-	2	685	c.178C>G	c.(178-180)Caa>Gaa	p.Q60E	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	60	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q60*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAGAAAAATTGATTCCACATC	0.383										HNSCC(23;0.051)			6	236					0	0	0	0	C	24593422	G	C	24593422	3	2	63	1	0	0	0	0	1	0	0	0	3125	1299	45	2	2232	2	CDH10	5	24593422	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	14178879	24593422	156321838	55	12494											
ITGA2	3673	broad.mit.edu	37	chr5	52347333	52347333	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgattgtagcaacatcccaGacatcccaatatggtgggga	13	9	10	9	0	0	2	0	1	0	1	2	3	2	3	2	3	2	2	2	3	4	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:52347333G>A	ENST00000296585.5	+	7	866	c.723G>A	c.(721-723)caG>caA	p.Q241Q		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	241	VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAACATCCCAGACATCCCAAT	0.373													43	80					0	0	0	0	A	52347333	G	A	52347333	2	1	63	1	0	0	0	0	0	0	0	1	7928	933	33	2		2	ITGA2	5	52347333	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	27753911	52347333	128567927	56	12495											
PIK3R1	5295	broad.mit.edu	37	chr5	67591278	67591278	+	Missense_Mutation	SNP	G	G	C																															caaaaaggtgttcggcaaaaGaagttgaacgagtggttggg																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:67591278G>C	ENST00000521381.1	+	14	2392	c.1776G>C	c.(1774-1776)aaG>aaC	p.K592N	PIK3R1_ENST00000523872.1_Missense_Mutation_p.K229N|PIK3R1_ENST00000336483.5_Missense_Mutation_p.K322N|PIK3R1_ENST00000521657.1_Missense_Mutation_p.K592N|PIK3R1_ENST00000396611.1_Missense_Mutation_p.K592N|PIK3R1_ENST00000274335.5_Missense_Mutation_p.K592N|PIK3R1_ENST00000320694.8_Missense_Mutation_p.K292N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	592					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTCGGCAAAAGAAGTTGAACG	0.363			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			5	73					0	0	0	0	C	67591278	G	C	67591278	3	2	63	1	0	0	0	0	1	0	0	0	11990	933	33	2	1956	2	PIK3R1	5	67591278	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	15243945	67591278	113323982	57	12496	106	2									
PIK3R1	5295	broad.mit.edu	37	chr5	67591279	67591279	+	Nonsense_Mutation	SNP	A	A	T																															aaaaaggtgttcggcaaaagAagttgaacgagtggttgggc																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:67591279A>T	ENST00000521381.1	+	14	2393	c.1777A>T	c.(1777-1779)Aag>Tag	p.K593*	PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.K230*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.K323*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.K593*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.K593*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.K593*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.K293*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	593					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCGGCAAAAGAAGTTGAACGA	0.363			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			5	73					0	0	0	0	T	67591279	A	T	67591279	4	4	63	1	0	0	0	0	0	1	0	0	11990	247	9	5	1957	5	PIK3R1	5	67591279	Nonsense_Mutation	SNP	A	TCGA-CN-4729-01A-01D-1434-08	1	67591279	113323981	58	12497	106	2									
PCDHAC1	56135	broad.mit.edu	37	chr5	140308890	140308890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggaataggaaaggggatCacgctaatgtcaatgccatg	13	9	12	7	2	2	0	2	0	0	0	3	3	2	3	1	4	1	1	1	4	5	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:140308890C>A	ENST00000253807.2	+	1	2413	c.2413C>A	c.(2413-2415)Cac>Aac	p.H805N	PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.H805N|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGGGGATCACGCTAATGT	0.453													22	162					2.44723e-14	2.78339e-14	1	0	A	140308890	C	A	140308890	3	1	63	1	0	0	0	0	1	0	0	0	11603	826	29	2	2415	2	PCDHAC1	5	140308890	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	72717611	140308890	40606370	59	12498											
GABRB2	2561	broad.mit.edu	37	chr5	160973412	160973412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgacatattactagggtCattgacactaaagaaagaaa	18	8	8	7	1	1	3	1	1	0	2	1	4	1	3	0	1	2	0	0	1	7	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:160973412C>A	ENST00000274547.2	-	3	302	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000353437.6_Missense_Mutation_p.D29Y|GABRB2_ENST00000393959.1_Missense_Mutation_p.D29Y|GABRB2_ENST00000520240.1_Missense_Mutation_p.D29Y	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	29					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTACTAGGGTCATTGACACTA	0.443													14	48					2.32078e-09	2.48913e-09	1	0	A	160973412	C	A	160973412	3	1	63	1	0	0	0	0	1	0	0	0	6215	826	29	2	1489	2	GABRB2	5	160973412	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	20664522	160973412	19941848	60	12499											
KDM1B	221656	broad.mit.edu	37	chr6	18207751	18207751	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagggcttgacattcaactCaaatctccagtgagtatcaa	14	10	8	9	0	4	2	3	2	1	0	5	3	4	2	1	1	1	2	1	1	5	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:18207751C>T	ENST00000388870.2	+	16	2023	c.1782C>T	c.(1780-1782)ctC>ctT	p.L594L	KDM1B_ENST00000397244.1_Silent_p.L362L|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Silent_p.L362L			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	594					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ACATTCAACTCAAATCTCCAG	0.517													29	70					0	0	0	0	T	18207751	C	T	18207751	2	4	63	1	0	0	0	0	0	0	0	1	8176	813	29	2		2	KDM1B	6	18207751	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08		18207751	152907316	61	12500											
SKIV2L	6499	broad.mit.edu	37	chr6	31931233	31931233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgattagcactgtaaccCgccccgtgcccctggagcac	8	8	10	15	2	0	1	0	1	0	0	0	2	0	2	5	1	4	3	5	1	2	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:31931233C>T	ENST00000375394.2	+	14	1560	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R290C	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	483						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CACTGTAACCCGCCCCGTGCC	0.562													21	89					0	0	0	0	T	31931233	C	T	31931233	3	4	63	1	0	0	0	0	1	0	0	0	14447	652	23	1	1501	1	SKIV2L	6	31931233	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	13723482	31931233	139183834	62	12501											
B3GALT4	8705	broad.mit.edu	37	chr6	33245570	33245570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccgtgtggggttcccaggGgagtgacctggcctcggagt	4	8	17	12	2	0	1	0	1	0	0	2	3	1	3	5	6	0	1	5	6	0	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:33245570G>T	ENST00000451237.1	+	1	654	c.374G>T	c.(373-375)gGg>gTg	p.G125V		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	125					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGTTCCCAGGGGAGTGACCTG	0.672													44	207					5.20006e-24	6.04726e-24	1	0	T	33245570	G	T	33245570	3	4	63	1	0	0	0	0	1	0	0	0	1253	1232	43	4	376	4	B3GALT4	6	33245570	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	1314337	33245570	137869497	63	12502											
CUL9	23113	broad.mit.edu	37	chr6	43155036	43155036	+	Silent	SNP	C	C	T																															gggctgtaccctttgccgtaCctccagcccgaacctcagaa																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:43155036C>T	ENST00000252050.4	+	6	1524	c.1440C>T	c.(1438-1440)taC>taT	p.Y480Y	CUL9_ENST00000372647.2_Silent_p.Y480Y|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	480					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTTTGCCGTACCTCCAGCCCG	0.542													43	219					0	0	0	0	T	43155036	C	T	43155036	2	4	63	1	0	0	0	0	0	0	0	1	4093	518	18	4		4	CUL9	6	43155036	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	9909466	43155036	127960031	64	12503	107	2									
CUL9	23113	broad.mit.edu	37	chr6	43155037	43155037	+	Missense_Mutation	SNP	C	C	T																															ggctgtaccctttgccgtacCtccagcccgaacctcagaag																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:43155037C>T	ENST00000252050.4	+	6	1525	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	CUL9_ENST00000372647.2_Missense_Mutation_p.L481F|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	481					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTTGCCGTACCTCCAGCCCGA	0.537													44	219					0	0	0	0	T	43155037	C	T	43155037	3	4	63	1	0	0	0	0	1	0	0	0	4093	681	24	4	1459	4	CUL9	6	43155037	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	1	43155037	127960030	65	12504	107	2									
SENP6	26054	broad.mit.edu	37	chr6	76412714	76412714	+	Frame_Shift_Del	DEL	C	C	-																															caataaaggagaatctacatCccagaaagttgctgatagga																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:76412714delC	ENST00000370014.3	+	19	3261	c.2642delC	c.(2641-2643)tcfs	p.S881fs	SENP6_ENST00000370010.2_Frame_Shift_Del_p.S874fs|SENP6_ENST00000541192.1_Intron|SENP6_ENST00000447266.2_Frame_Shift_Del_p.S881fs	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	881	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GAATCTACATCCCAGAAAGTT	0.328													60	282	---	---	---	---					-	76412714	C	-	76412714	7	5	63	1	0	1	0	1	0	0	0	0	14137	855	30	0	2716	0	SENP6	6	76412714	Frame_Shift_Del	DEL	C	TCGA-CN-4729-01A-01D-1434-08	33257677	76412714	94702353	66	12505											
CASP8AP2	9994	broad.mit.edu	37	chr6	90572083	90572083	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacatttacctacatctgttGagaaacactgcactaatggt	13	12	6	10	0	1	1	0	1	1	1	1	2	1	1	1	1	4	2	1	1	4	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:90572083G>A	ENST00000551025.1	+	0	2092							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TACATCTGTTGAGAAACACTG	0.388													31	231					0	0	0	0	A	90572083	G	A	90572083	1	1	63	0	1	0	0	0	0	0	0	0	2703	1291	45	2		2	CASP8AP2	6	90572083	RNA	SNP	G	TCGA-CN-4729-01A-01D-1434-08	14159369	90572083	80542984	67	12506											
GJA10	84694	broad.mit.edu	37	chr6	90605064	90605064	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acaatcaacagcaagtcattCgagttaatgtgccaaagtct	15	10	7	9	1	3	0	2	0	1	0	4	1	3	0	1	0	3	2	1	0	5	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:90605064C>G	ENST00000369352.1	+	1	877	c.877C>G	c.(877-879)Cga>Gga	p.R293G		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	293					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCAAGTCATTCGAGTTAATGT	0.433													10	77					0	0	0	0	G	90605064	C	G	90605064	3	3	63	1	0	0	0	0	1	0	0	0	6452	876	31	3	879	3	GJA10	6	90605064	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	32981	90605064	80510003	68	12507											
EIF3B	8662	broad.mit.edu	37	chr7	2415133	2415133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctactgggcgctacgtcGtcacctctgtgtcctggtgg	4	12	12	13	3	2	0	1	0	1	0	5	0	4	0	3	3	2	1	3	3	2	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:2415133G>A	ENST00000360876.4	+	14	2055	c.1999G>A	c.(1999-2001)Gtc>Atc	p.V667I	EIF3B_ENST00000397011.2_Missense_Mutation_p.V667I	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	667					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GCGCTACGTCGTCACCTCTGT	0.562													24	84					0	0	0	0	A	2415133	G	A	2415133	3	1	63	1	0	0	0	0	1	0	0	0	5049	1145	40	1	2053	1	EIF3B	7	2415133	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08		2415133	156723530	69	12508											
GHRHR	2692	broad.mit.edu	37	chr7	31008504	31008504	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagctgagagaggatgAgagtgcctgtctacaagcag	12	6	13	10	0	1	3	0	2	1	2	1	6	1	4	2	1	4	2	2	1	2	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:31008504A>G	ENST00000326139.2	+	2	159	c.113A>G	c.(112-114)gAg>gGg	p.E38G		NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	38					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	AGAGAGGATGAGAGTGCCTGT	0.537													11	51					0	0	0	0	G	31008504	A	G	31008504	3	3	63	1	0	0	0	0	1	0	0	0	6424	304	11	5	119	5	GHRHR	7	31008504	Missense_Mutation	SNP	A	TCGA-CN-4729-01A-01D-1434-08	28593371	31008504	128130159	70	12509											
MAGI2	9863	broad.mit.edu	37	chr7	78130931	78130931	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccttctctgtataggccaTttcccagttatcaggcaatg	8	13	8	12	0	2	0	1	0	1	0	4	0	3	0	3	2	0	3	3	2	4	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:78130931T>A	ENST00000354212.4	-	5	1181	c.928A>T	c.(928-930)Atg>Ttg	p.M310L	MAGI2_ENST00000419488.1_Missense_Mutation_p.M310L|MAGI2_ENST00000536571.1_Missense_Mutation_p.M142L|MAGI2_ENST00000522391.1_Missense_Mutation_p.M310L|MAGI2_ENST00000535697.1_Missense_Mutation_p.M147L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	310	Interaction with DDN.|WW 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTATAGGCCATTTCCCAGTTA	0.448													23	179					0	0	0	0	A	78130931	T	A	78130931	3	1	63	1	0	0	0	0	1	0	0	0	9260	1493	52	5	3511	5	MAGI2	7	78130931	Missense_Mutation	SNP	T	TCGA-CN-4729-01A-01D-1434-08	47122427	78130931	81007732	71	12510											
SAMD9	54809	broad.mit.edu	37	chr7	92733477	92733477	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtcatgatatcttctTcctttttcagaaggacagtc	10	14	8	9	0	4	2	2	1	2	1	6	4	5	3	1	1	1	1	1	1	2	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:92733477T>A	ENST00000379958.2	-	3	2203	c.1934A>T	c.(1933-1935)gAa>gTa	p.E645V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	645						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GATATCTTCTTCCTTTTTCAG	0.353													23	192					0	0	0	0	A	92733477	T	A	92733477	3	1	63	1	0	0	0	0	1	0	0	0	13911	1783	62	5	2839	5	SAMD9	7	92733477	Missense_Mutation	SNP	T	TCGA-CN-4729-01A-01D-1434-08	14602546	92733477	66405186	72	12511											
NPTX2	4885	broad.mit.edu	37	chr7	98248963	98248963	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtggctgaaagcaccagctCagagcaaacgtgtccaatgc	12	6	12	11	1	1	2	1	1	0	1	2	2	2	2	2	2	5	4	2	2	3	0			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:98248963C>G	ENST00000265634.3	+	2	600	c.435C>G	c.(433-435)ctC>ctG	p.L145L		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	145					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGCACCAGCTCAGAGCAAACG	0.607													57	135					0	0	0	0	G	98248963	C	G	98248963	2	3	63	1	0	0	0	0	0	0	0	1	10674	813	29	2		2	NPTX2	7	98248963	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	5515486	98248963	60889700	73	12512											
OR2A7	401427	broad.mit.edu	37	chr7	143956646	143956646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggagaagagcccaaagaGgagcatctgaatccttgggc	13	5	14	9	0	1	4	0	1	1	3	2	6	2	5	2	3	2	1	2	3	3	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:143956646G>A	ENST00000493325.1	-	1	169	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					AGCCCAAAGAGGAGCATCTGA	0.527													10	73					0	0	0	0	A	143956646	G	A	143956646	3	1	63	1	0	0	0	0	1	0	0	0	11053	1000	35	4	859	4	OR2A7	7	143956646	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	45707683	143956646	15182017	74	12513											
PIWIL2	55124	broad.mit.edu	37	chr8	22172591	22172591	+	Frame_Shift_Del	DEL	C	C	-																															caccaggcttcggagtgtggCccagaagattttacttcaga																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:22172591delC	ENST00000356766.6	+	18	2289	c.2141delC	c.(2140-2142)gcfs	p.A714fs	PIWIL2_ENST00000454009.2_Frame_Shift_Del_p.A714fs|PIWIL2_ENST00000521356.1_Frame_Shift_Del_p.A714fs	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	714	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	p.A714V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CGGAGTGTGGCCCAGAAGATT	0.483													29	89	---	---	---	---					-	22172591	C	-	22172591	7	5	63	1	0	1	0	1	0	0	0	0	12030	739	26	0	2207	0	PIWIL2	8	22172591	Frame_Shift_Del	DEL	C	TCGA-CN-4729-01A-01D-1434-08		22172591	124191431	75	12514											
UNC5D	137970	broad.mit.edu	37	chr8	35608198	35608198	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttgggacctatgcgctCactggagagccaatcacaga	11	8	11	11	1	2	2	2	0	0	2	2	4	2	3	2	2	3	2	2	2	2	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:35608198C>A	ENST00000287272.2	+	12	1847	c.1827C>A	c.(1825-1827)ctC>ctA	p.L609L	UNC5D_ENST00000453357.2_Silent_p.L673L|UNC5D_ENST00000404895.2_Silent_p.L678L|UNC5D_ENST00000420357.1_Silent_p.L611L|UNC5D_ENST00000449677.1_Silent_p.L254L|UNC5D_ENST00000416672.1_Silent_p.L683L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	678	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCTATGCGCTCACTGGAGAGC	0.498													45	284					1.97e-11	2.1807e-11	1	0	A	35608198	C	A	35608198	2	1	63	1	0	0	0	0	0	0	0	1	17091	813	29	2		2	UNC5D	8	35608198	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	13435607	35608198	110755824	76	12515											
XKR4	114786	broad.mit.edu	37	chr8	56015448	56015448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagacgtctggctcgccGtggactactacctgcgcggc	6	7	13	15	5	1	1	0	0	1	1	2	2	1	2	2	3	3	2	2	3	2	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:56015448G>A	ENST00000327381.5	+	1	500	c.400G>A	c.(400-402)Gtg>Atg	p.V134M		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	134						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTGGCTCGCCGTGGACTACTA	0.662													7	118					0	0	0	0	A	56015448	G	A	56015448	3	1	63	1	0	0	0	0	1	0	0	0	17529	1145	40	1	402	1	XKR4	8	56015448	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	20407250	56015448	90348574	77	12516											
XKR4	114786	broad.mit.edu	37	chr8	56015674	56015674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggaaggcgaggctcgtcCttccacgccgcaaaggcaag	9	4	15	13	5	0	0	0	0	0	0	3	2	2	1	3	5	0	3	3	5	3	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:56015674C>A	ENST00000327381.5	+	1	726	c.626C>A	c.(625-627)cCt>cAt	p.P209H		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	209						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GAGGCTCGTCCTTCCACGCCG	0.692													22	38					2.89027e-11	3.14887e-11	1	0	A	56015674	C	A	56015674	3	1	63	1	0	0	0	0	1	0	0	0	17529	681	24	4	628	4	XKR4	8	56015674	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	226	56015674	90348348	78	12517											
GSDMC	56169	broad.mit.edu	37	chr8	130789715	130789715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacgagaatccttcttctttCgtaatataacaaactgacgt	14	13	5	9	3	2	2	0	1	2	1	4	3	3	2	1	0	3	1	1	0	6	6			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:130789715C>T	ENST00000276708.4	-	2	1000	c.119G>A	c.(118-120)cGa>cAa	p.R40Q		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	40						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTTCTTCTTTCGTAATATAAC	0.398													30	174					0	0	0	0	T	130789715	C	T	130789715	3	4	63	1	0	0	0	0	1	0	0	0	6868	884	31	1	1459	1	GSDMC	8	130789715	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	74774041	130789715	15574307	79	12518											
FAM135B	51059	broad.mit.edu	37	chr8	139180196	139180196	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggcagggtgttccaatcGccgtcgatgtccaggcactc	7	8	12	14	4	0	0	0	0	0	0	5	1	2	0	4	3	0	3	4	3	1	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:139180196G>T	ENST00000395297.1	-	12	1370	c.1200C>A	c.(1198-1200)ggC>ggA	p.G400G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	400										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTTCCAATCGCCGTCGATGT	0.552										HNSCC(54;0.14)			60	159					5.10652e-33	6.04029e-33	1	0	T	139180196	G	T	139180196	2	4	63	1	0	0	0	0	0	0	0	1	5490	1074	38	3		3	FAM135B	8	139180196	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	8390481	139180196	7183826	80	12519											
NTRK2	4915	broad.mit.edu	37	chr9	87339210	87339210	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgacagtgggaagcagatCtcttgtgtggcggaaaatct	11	10	14	6	1	2	2	0	1	2	1	3	5	2	4	0	3	1	1	0	3	3	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr9:87339210C>G	ENST00000304053.6	+	8	1275	c.792C>G	c.(790-792)atC>atG	p.I264M	NTRK2_ENST00000359847.3_Missense_Mutation_p.I264M|NTRK2_ENST00000395882.1_Missense_Mutation_p.I264M|NTRK2_ENST00000376214.1_Missense_Mutation_p.I264M|NTRK2_ENST00000323115.4_Missense_Mutation_p.I264M|NTRK2_ENST00000277120.3_Missense_Mutation_p.I264M|NTRK2_ENST00000376208.1_Missense_Mutation_p.I264M|NTRK2_ENST00000376213.1_Missense_Mutation_p.I264M|NTRK2_ENST00000395866.2_Missense_Mutation_p.I108M	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	264	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GGAAGCAGATCTCTTGTGTGG	0.393										TSP Lung(25;0.17)			12	249					0	0	0	0	G	87339210	C	G	87339210	3	3	63	1	0	0	0	0	1	0	0	0	10778	903	32	2	818	2	NTRK2	9	87339210	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08		87339210	53874221	81	12520											
CTNNAL1	8727	broad.mit.edu	37	chr9	111745497	111745497	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattcggtttacagtcagtCacaatttcaatgaccttatc	11	14	5	11	1	3	1	3	1	0	0	5	1	3	1	2	1	1	1	2	1	4	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr9:111745497C>T	ENST00000374595.4	-	6	907	c.828G>A	c.(826-828)gtG>gtA	p.V276V	CTNNAL1_ENST00000325580.6_Silent_p.V276V|CTNNAL1_ENST00000325551.4_Silent_p.V276V			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	276					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TACAGTCAGTCACAATTTCAA	0.353													6	64					0	0	0	0	T	111745497	C	T	111745497	2	4	63	1	0	0	0	0	0	0	0	1	4047	813	29	2		2	CTNNAL1	9	111745497	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	24406287	111745497	29467934	82	12521											
NOTCH1	4851	broad.mit.edu	37	chr9	139402755	139402755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggtccagccgctggggCactcgcagcggtactgggtg	4	6	18	13	4	0	0	0	0	0	0	2	0	1	0	3	6	3	4	3	6	1	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr9:139402755C>T	ENST00000277541.6	-	20	3329	c.3254G>A	c.(3253-3255)tGc>tAc	p.C1085Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1085	EGF-like 28.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGCTGGGGCACTCGCAGCG	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			33	58					0	0	0	0	T	139402755	C	T	139402755	3	4	63	1	0	0	0	0	1	0	0	0	10617	710	25	4	4473	4	NOTCH1	9	139402755	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	27657258	139402755	1810676	83	12522											
ANKRD26	22852	broad.mit.edu	37	chr10	27324102	27324102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttttgtacccgttctaaacCcaaagtcttttctctgaggg	8	15	7	11	1	3	1	0	1	3	0	4	1	3	1	2	1	2	2	2	1	4	7			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr10:27324102C>T	ENST00000376087.4	-	24	3442	c.3277G>A	c.(3277-3279)Ggt>Agt	p.G1093S	ANKRD26_ENST00000436985.2_Missense_Mutation_p.G1109S|ANKRD26_ENST00000376070.3_Missense_Mutation_p.G650S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1092						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CGTTCTAAACCCAAAGTCTTT	0.348													17	226					0	0	0	0	T	27324102	C	T	27324102	3	4	63	1	0	0	0	0	1	0	0	0	654	623	22	4	1899	4	ANKRD26	10	27324102	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08		27324102	108210645	84	12523											
SVIL	6840	broad.mit.edu	37	chr10	29776096	29776096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcaggtaccaaccttcGccttttctatgacgtttgca	7	17	6	11	2	2	1	1	1	1	0	3	1	2	1	3	1	3	3	3	1	3	8			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr10:29776096G>A	ENST00000375398.2	-	26	4930	c.4481C>T	c.(4480-4482)gCg>gTg	p.A1494V	SVIL_ENST00000375400.3_Missense_Mutation_p.A1068V|SVIL_ENST00000538146.1_Missense_Mutation_p.A286V|SVIL_ENST00000535393.1_Missense_Mutation_p.A408V|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.A1494V			O95425	SVIL_HUMAN	supervillin	1494	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCAACCTTCGCCTTTTCTAT	0.502													6	29					0	0	0	0	A	29776096	G	A	29776096	3	1	63	1	0	0	0	0	1	0	0	0	15511	1087	38	1	2223	1	SVIL	10	29776096	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	2451994	29776096	105758651	85	12524											
SLC16A9	220963	broad.mit.edu	37	chr10	61413786	61413788	+	In_Frame_Del	DEL	CTT	CTT	-																															cttcttctttcacgtttgaaCttcttgctacatcttccata																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr10:61413786_61413788delCTT	ENST00000395348.3	-	5	1632_1634	c.996_998delAAG	c.(994-999)agt>ag	p.RS332del	SLC16A9_ENST00000395347.1_In_Frame_Del_p.RS332del	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	332					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CACGTTTGAACTTCTTGCTACAT	0.365													11	99	---	---	---	---					-	61413788	CTT	-	61413786	7	5	63	1	0	1	0	1	0	0	0	0	14503	565	20	0	539	0	SLC16A9	10	61413786	In_Frame_Del	DEL	CTT	TCGA-CN-4729-01A-01D-1434-08	31637690	61413786	74120961	86	12525											
MMRN2	79812	broad.mit.edu	37	chr10	88696664	88696664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgcccagtggtacagactgGagtccgatggtgacctccaa	9	8	12	12	1	0	2	0	1	0	1	2	4	2	3	4	3	2	1	4	3	2	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr10:88696664G>A	ENST00000372027.4	-	7	2759	c.2686C>T	c.(2686-2688)Cca>Tca	p.P896S		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	896	C1q.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GTACAGACTGGAGTCCGATGG	0.597													29	275					0	0	0	0	A	88696664	G	A	88696664	3	1	63	1	0	0	0	0	1	0	0	0	9741	1174	41	2	167	2	MMRN2	10	88696664	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	27282878	88696664	46838083	87	12526											
TRIM21	6737	broad.mit.edu	37	chr11	4409647	4409647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccccaggattctcagctgCtccctctcatccttctccag	5	12	5	19	0	3	0	2	0	3	0	9	1	6	1	5	1	2	2	5	1	0	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:4409647C>T	ENST00000254436.7	-	4	730	c.618G>A	c.(616-618)gaG>gaA	p.E206E	TRIM21_ENST00000543625.1_Silent_p.E206E	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	206					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TTCTCAGCTGCTCCCTCTCAT	0.542													86	204					0	0	0	0	T	4409647	C	T	4409647	2	4	63	1	0	0	0	0	0	0	0	1	16590	796	28	4		4	TRIM21	11	4409647	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08		4409647	130596869	88	12527											
CALCA	796	broad.mit.edu	37	chr11	14990471	14990471	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaacgtgtgaaacttgttGaagtcctgcgtgtatgtgcc	8	12	14	7	2	0	2	0	2	0	0	1	3	1	3	2	1	4	2	2	1	4	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:14990471G>A	ENST00000331587.4	-	4	418	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CALCA_ENST00000396372.2_Silent_p.F100F|CALCA_ENST00000361010.3_Intron|CALCA_ENST00000359642.3_Silent_p.F100F|CALCA_ENST00000486207.1_Intron|CALCB_ENST00000523376.1_Intron	NM_001741.2	NP_001732.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	98					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	GAAACTTGTTGAAGTCCTGCG	0.522													28	136					0	0	0	0	A	14990471	G	A	14990471	2	1	63	1	0	0	0	0	0	0	0	1	2600	1281	45	2		2	CALCA	11	14990471	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	10580824	14990471	120016045	89	12528											
TCP11L1	55346	broad.mit.edu	37	chr11	33079527	33079527	+	Frame_Shift_Del	DEL	G	G	-																															aaccagataacagaagtcttGgatctggatctgataaagca																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:33079527delG	ENST00000334274.4	+	5	880	c.480delG	c.(478-480)ttfs	p.L160fs	TCP11L1_ENST00000432887.1_Frame_Shift_Del_p.L160fs|TCP11L1_ENST00000530171.1_3'UTR|TCP11L1_ENST00000531632.2_Frame_Shift_Del_p.L160fs	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	160										kidney(1)|liver(2)|lung(2)|skin(1)	6						CAGAAGTCTTGGATCTGGATC	0.433													12	68	---	---	---	---					-	33079527	G	-	33079527	7	5	63	1	0	1	0	1	0	0	0	0	15808	1339	47	0	494	0	TCP11L1	11	33079527	Frame_Shift_Del	DEL	G	TCGA-CN-4729-01A-01D-1434-08	18089056	33079527	101926989	90	12529											
SLC43A1	8501	broad.mit.edu	37	chr11	57261527	57261527	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgaaggcatccgaaccGtcctccaggctgggggcctt	8	7	13	13	2	0	1	0	1	0	0	3	3	3	1	5	4	1	2	5	4	2	1	rs146290858	byFrequency	TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:57261527G>A	ENST00000278426.3	-	8	1165	c.810C>T	c.(808-810)gaC>gaT	p.D270D	SLC43A1_ENST00000528450.1_Silent_p.D270D|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	270					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CATCCGAACCGTCCTCCAGGC	0.612											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	58					0	0	0	0	A	57261527	G	A	57261527	2	1	63	1	0	0	0	0	0	0	0	1	14720	1136	40	1		1	SLC43A1	11	57261527	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	24182000	57261527	77744989	91	12530											
ZFP91	80829	broad.mit.edu	37	chr11	58379154	58379154	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaattaaagtggaagtagAggtggaggtgaaagaagagg	17	6	18	0	0	0	4	0	1	0	3	0	7	0	7	0	6	0	1	0	6	7	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:58379154A>T	ENST00000316059.6	+	6	971	c.800A>T	c.(799-801)gAg>gTg	p.E267V	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E267V	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	267	Glu-rich.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				gtggaagtagaggtggaggtg	0.383													5	35					0	0	0	0	T	58379154	A	T	58379154	3	4	63	1	0	0	0	0	1	0	0	0	17750	304	11	5	822	5	ZFP91	11	58379154	Missense_Mutation	SNP	A	TCGA-CN-4729-01A-01D-1434-08	1117627	58379154	76627362	92	12531											
MRPL49	740	broad.mit.edu	37	chr11	64893285	64893285	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaggtgacaggtaccctaCggatcaagggctactttgac	11	9	12	9	1	1	3	1	3	0	0	1	4	1	4	1	4	3	2	1	4	4	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:64893285C>A	ENST00000279242.2	+	4	461	c.442C>A	c.(442-444)Cgg>Agg	p.R148R	MRPL49_ENST00000531705.1_Intron|MRPL49_ENST00000534078.1_3'UTR|MRPL49_ENST00000524482.1_3'UTR	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	148					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|ovary(1)	2						AGGTACCCTACGGATCAAGGG	0.567													37	140					3.33393e-15	3.81284e-15	1	0	A	64893285	C	A	64893285	2	1	63	1	0	0	0	0	0	0	0	1	9883	527	19	3		3	MRPL49	11	64893285	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	6514131	64893285	70113231	93	12532											
FAT3	120114	broad.mit.edu	37	chr11	92523277	92523277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acactgttcatagcagcatcGactccatcagcatgagaaaa	15	8	7	11	1	2	1	2	1	0	1	4	3	3	1	1	0	3	4	1	0	3	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:92523277G>C	ENST00000298047.6	+	7	4521	c.4504G>C	c.(4504-4506)Gac>Cac	p.D1502H	FAT3_ENST00000409404.2_Missense_Mutation_p.D1502H|FAT3_ENST00000525166.1_Missense_Mutation_p.D1352H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1502	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGCAGCATCGACTCCATCAG	0.507										TCGA Ovarian(4;0.039)			20	182					0	0	0	0	C	92523277	G	C	92523277	3	2	63	1	0	0	0	0	1	0	0	0	5736	1058	37	3	4530	3	FAT3	11	92523277	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	27629992	92523277	42483239	94	12533											
FAT3	120114	broad.mit.edu	37	chr11	92534060	92534060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttcaagccatagatccCgatgatggagcaaattcaag	15	8	9	9	1	2	2	2	1	0	1	3	4	3	3	2	1	2	2	2	1	5	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:92534060C>T	ENST00000298047.6	+	9	7898	c.7881C>T	c.(7879-7881)ccC>ccT	p.P2627P	FAT3_ENST00000409404.2_Silent_p.P2627P|FAT3_ENST00000525166.1_Silent_p.P2477P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2627	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATAGATCCCGATGATGGAG	0.498										TCGA Ovarian(4;0.039)			9	20					0	0	0	0	T	92534060	C	T	92534060	2	4	63	1	0	0	0	0	0	0	0	1	5736	639	23	1		1	FAT3	11	92534060	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	10783	92534060	42472456	95	12534											
CNTN5	53942	broad.mit.edu	37	chr11	99690441	99690441	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggctaggggcagctcaGaattattattcccccatcaa	11	10	9	11	0	2	1	2	0	0	1	3	1	3	1	2	3	2	4	2	3	5	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:99690441G>A	ENST00000524871.1	+	4	512	c.222G>A	c.(220-222)caG>caA	p.Q74Q	CNTN5_ENST00000528682.1_Silent_p.Q74Q|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Silent_p.Q74Q|CNTN5_ENST00000527185.1_Silent_p.Q74Q	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	74					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGGCAGCTCAGAATTATTATT	0.443													3	28					0	0	0	0	A	99690441	G	A	99690441	2	1	63	1	0	0	0	0	0	0	0	1	3674	933	33	2		2	CNTN5	11	99690441	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	7156381	99690441	35316075	96	12535											
PKNOX2	63876	broad.mit.edu	37	chr11	125301235	125301235	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaggtcgacgagctgCagacgacaaatgtcagcgac	13	4	15	9	4	1	1	1	0	0	1	2	7	1	3	0	3	3	2	0	3	1	0			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:125301235C>T	ENST00000298282.9	+	13	1637	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*	PKNOX2_ENST00000542175.1_Nonsense_Mutation_p.Q392*|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	456						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CGACGAGCTGCAGACGACAAA	0.577													4	41					0	0	0	0	T	125301235	C	T	125301235	4	4	63	1	0	0	0	0	0	1	0	0	12055	711	25	4	1404	4	PKNOX2	11	125301235	Nonsense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	25610794	125301235	9705281	97	12536											
SRPR	6734	broad.mit.edu	37	chr11	126137475	126137475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaagtcattttggaaatCaaaagtgccatttaataaac	17	11	7	6	0	2	0	2	0	0	0	2	2	2	2	1	2	2	0	1	2	7	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:126137475C>G	ENST00000332118.6	-	3	488	c.334G>C	c.(334-336)Gat>Cat	p.D112H	SRPR_ENST00000532259.1_Missense_Mutation_p.D84H|SRPR_ENST00000530680.1_5'UTR	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	112					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTTTGGAAATCAAAAGTGCCA	0.418													10	106					0	0	0	0	G	126137475	C	G	126137475	3	3	63	1	0	0	0	0	1	0	0	0	15252	826	29	2	1630	2	SRPR	11	126137475	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	836240	126137475	8869041	98	12537											
IQSEC3	440073	broad.mit.edu	37	chr12	247993	247993	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatggctttccgggacgtCacggtgcagatcgccaacca	9	8	12	12	4	1	2	1	1	0	1	3	3	2	3	3	3	2	2	3	3	1	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:247993C>T	ENST00000538872.1	+	4	1582	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.V488V|IQSEC3_ENST00000382841.2_Silent_p.V185V			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	488					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TCCGGGACGTCACGGTGCAGA	0.726													5	19					0	0	0	0	T	247993	C	T	247993	2	4	63	1	0	0	0	0	0	0	0	1	7872	813	29	2		2	IQSEC3	12	247993	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08		247993	133603902	99	12538											
WNK1	65125	broad.mit.edu	37	chr12	977906	977906	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaatcaagaagaactgcCtcctcaatcagttggattac	13	11	7	10	0	3	3	3	1	0	2	4	4	4	4	2	1	3	1	2	1	6	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:977906C>G	ENST00000537687.1	+	9	3657	c.3014C>G	c.(3013-3015)cCt>cGt	p.P1005R	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.P1090R|WNK1_ENST00000574564.1_Missense_Mutation_p.P304R|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000340908.4_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAAGAACTGCCTCCTCAATCA	0.473													7	133					0	0	0	0	G	977906	C	G	977906	3	3	63	1	0	0	0	0	1	0	0	0	17473	681	24	4	3307	4	WNK1	12	977906	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	729913	977906	132873989	100	12539											
CACNA1C	775	broad.mit.edu	37	chr12	2659197	2659197	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactgcggggccaggctGgcgtgagtaggcacggcgag	9	4	19	9	4	0	1	0	1	0	0	0	3	0	1	1	6	2	3	1	6	3	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:2659197G>T	ENST00000399655.1	+	10	1744	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L	CACNA1C_ENST00000399595.1_Silent_p.L493L|CACNA1C_ENST00000399603.1_Silent_p.L493L|CACNA1C_ENST00000399641.1_Silent_p.L493L|CACNA1C_ENST00000399638.1_Silent_p.L493L|CACNA1C_ENST00000402845.3_Silent_p.L493L|CACNA1C_ENST00000399601.1_Silent_p.L493L|CACNA1C_ENST00000399644.1_Silent_p.L493L|CACNA1C_ENST00000399629.1_Silent_p.L493L|CACNA1C_ENST00000347598.4_Silent_p.L493L|CACNA1C_ENST00000399621.1_Silent_p.L493L|CACNA1C_ENST00000399637.1_Silent_p.L493L|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000327702.7_Silent_p.L493L|CACNA1C_ENST00000406454.3_Silent_p.L493L|CACNA1C_ENST00000399591.1_Silent_p.L493L|CACNA1C_ENST00000399649.1_Silent_p.L493L|CACNA1C_ENST00000344100.3_Silent_p.L493L|CACNA1C_ENST00000399617.1_Silent_p.L493L|CACNA1C_ENST00000399606.1_Silent_p.L493L|CACNA1C_ENST00000335762.5_Silent_p.L518L|CACNA1C_ENST00000399597.1_Silent_p.L493L|CACNA1C_ENST00000399634.1_Silent_p.L493L|CACNA1C_ENST00000480911.1_Silent_p.L493L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	493					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGGCCAGGCTGGCGTGAGTAG	0.592													9	10					4.68919e-08	4.95236e-08	1	0	T	2659197	G	T	2659197	2	4	63	1	0	0	0	0	0	0	0	1	2565	1335	47	4		4	CACNA1C	12	2659197	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	1681291	2659197	131192698	101	12540											
SLC2A3	6515	broad.mit.edu	37	chr12	8075605	8075605	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaatacagacaaagctcaTcccattatagttatcctgta	14	11	4	12	0	1	1	1	0	0	1	3	1	3	1	3	0	2	3	3	0	7	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:8075605T>A	ENST00000075120.7	-	9	1324	c.1084A>T	c.(1084-1086)Atg>Ttg	p.M362L		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	362					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ACAAAGCTCATCCCATTATAG	0.423													8	40					0	0	0	0	A	8075605	T	A	8075605	3	1	63	1	0	0	0	0	1	0	0	0	14633	1435	50	5	414	5	SLC2A3	12	8075605	Missense_Mutation	SNP	T	TCGA-CN-4729-01A-01D-1434-08	5416408	8075605	125776290	102	12541											
FGD4	121512	broad.mit.edu	37	chr12	32729207	32729207	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttctacagtgcctccAaagccattacacctgcagaa	11	12	5	13	0	2	1	0	0	2	1	3	1	3	1	4	0	5	1	4	0	4	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:32729207A>G	ENST00000534526.2	+	3	592	c.327A>G	c.(325-327)ccA>ccG	p.P109P	FGD4_ENST00000427716.2_5'UTR|FGD4_ENST00000531134.1_Silent_p.P57P|FGD4_ENST00000472289.1_5'UTR|FGD4_ENST00000546442.1_Intron|FGD4_ENST00000525053.1_Silent_p.P84P|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000473513.1_3'UTR			Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	66	Actin filament-binding (By similarity).				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CAGTGCCTCCAAAGCCATTAC	0.368													4	20					0	0	0	0	G	32729207	A	G	32729207	2	3	63	1	0	0	0	0	0	0	0	1	5880	145	5	5		5	FGD4	12	32729207	Silent	SNP	A	TCGA-CN-4729-01A-01D-1434-08	24653602	32729207	101122688	103	12542											
SENP1	29843	broad.mit.edu	37	chr12	48457609	48457609	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attacgaaatacattctttaTttctttctccatttcctaag	11	19	2	9	1	3	0	0	0	3	0	5	1	4	0	2	0	2	0	2	0	5	9			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:48457609T>A	ENST00000004980.5	-	13	1769	c.1291A>T	c.(1291-1293)Ata>Tta	p.I431L	SENP1_ENST00000551330.1_Missense_Mutation_p.I431L|SENP1_ENST00000549518.1_Missense_Mutation_p.I431L|SENP1_ENST00000448372.1_Missense_Mutation_p.I431L|SENP1_ENST00000549595.1_Missense_Mutation_p.I431L|SENP1_ENST00000339976.6_3'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	431					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				ACATTCTTTATTTCTTTCTCC	0.383													10	22					0	0	0	0	A	48457609	T	A	48457609	3	1	63	1	0	0	0	0	1	0	0	0	14133	1493	52	5	664	5	SENP1	12	48457609	Missense_Mutation	SNP	T	TCGA-CN-4729-01A-01D-1434-08	15728402	48457609	85394286	104	12543											
STAC3	246329	broad.mit.edu	37	chr12	57640593	57640593	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtacagtgctcacatttttCttatctgcctgtcccttctt	5	18	6	12	0	4	0	1	0	3	0	5	0	5	0	2	1	3	2	2	1	2	6			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:57640593C>G	ENST00000332782.2	-	6	798	c.597G>C	c.(595-597)aaG>aaC	p.K199N	STAC3_ENST00000546246.2_Missense_Mutation_p.K13N|STAC3_ENST00000554578.1_Missense_Mutation_p.K160N	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	199					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						TCACATTTTTCTTATCTGCCT	0.498													23	325					0	0	0	0	G	57640593	C	G	57640593	3	3	63	1	0	0	0	0	1	0	0	0	15331	912	32	2	525	2	STAC3	12	57640593	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	9182984	57640593	76211302	105	12544											
HELB	92797	broad.mit.edu	37	chr12	66696407	66696407	+	Silent	SNP	G	G	T																															gccaggtcgagtccgtacctGcgccaacttcagggacctct																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:66696407G>T	ENST00000247815.4	+	1	83	c.24G>T	c.(22-24)ctG>ctT	p.L8L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	8					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTCCGTACCTGCGCCAACTTC	0.552													17	91					1.33834e-09	1.44289e-09	1	0	T	66696407	G	T	66696407	2	4	63	1	0	0	0	0	0	0	0	1	7095	1306	46	4		4	HELB	12	66696407	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	9055814	66696407	67155488	106	12545	108	2									
HELB	92797	broad.mit.edu	37	chr12	66696408	66696408	+	Missense_Mutation	SNP	C	C	T																															ccaggtcgagtccgtacctgCgccaacttcagggacctctg																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:66696408C>T	ENST00000247815.4	+	1	84	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	9					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TCCGTACCTGCGCCAACTTCA	0.552													18	89					0	0	0	0	T	66696408	C	T	66696408	3	4	63	1	0	0	0	0	1	0	0	0	7095	768	27	1	27	1	HELB	12	66696408	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	1	66696408	67155487	107	12546	108	2									
NBEA	26960	broad.mit.edu	37	chr13	36129126	36129126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcttaattgctaggaGgatatcattggccactcctc	8	13	10	10	0	1	0	1	0	0	0	3	2	2	2	2	3	2	3	2	3	3	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr13:36129126G>A	ENST00000540320.1	+	44	7343	c.6809G>A	c.(6808-6810)aGg>aAg	p.R2270K	NBEA_ENST00000400445.3_Missense_Mutation_p.R2270K|NBEA_ENST00000310336.4_Missense_Mutation_p.R2270K|NBEA_ENST00000379939.2_Missense_Mutation_p.R2267K|NBEA_ENST00000537702.1_Missense_Mutation_p.R63K			Q8NFP9	NBEA_HUMAN	neurobeachin	2270						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTGCTAGGAGGATATCATTG	0.318													6	45					0	0	0	0	A	36129126	G	A	36129126	3	1	63	1	0	0	0	0	1	0	0	0	10257	1000	35	4	6983	4	NBEA	13	36129126	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08		36129126	79040752	108	12547											
CCDC70	83446	broad.mit.edu	37	chr13	52439668	52439668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggaggaaaaggcttttCgcgaagagatgaaaattttt	14	11	12	4	2	0	2	0	1	0	1	1	6	0	4	0	3	1	2	0	3	5	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr13:52439668C>T	ENST00000242819.4	+	2	450	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	52						extracellular region|plasma membrane		p.R52C(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AAAGGCTTTTCGCGAAGAGAT	0.517													26	173					0	0	0	0	T	52439668	C	T	52439668	3	4	63	1	0	0	0	0	1	0	0	0	2870	884	31	1	156	1	CCDC70	13	52439668	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	16310542	52439668	62730210	109	12548											
NEK5	341676	broad.mit.edu	37	chr13	52660423	52660423	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaatttacctctggttctCtccccatcttctttctaatt	7	19	3	12	0	5	1	0	1	5	0	7	1	6	1	3	1	1	1	3	1	3	7			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr13:52660423C>G	ENST00000355568.4	-	16	1608	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	490							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTCTGGTTCTCTCCCCATCTT	0.363													17	215					0	0	0	0	G	52660423	C	G	52660423	3	3	63	1	0	0	0	0	1	0	0	0	10397	913	32	2	685	2	NEK5	13	52660423	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	220755	52660423	62509455	110	12549											
PCDH17	27253	broad.mit.edu	37	chr13	58207106	58207106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatcgaaatggacatctcGgagaacgctgctccgggcac	11	6	12	12	4	1	2	0	0	1	2	4	5	2	3	1	3	2	3	1	3	2	0			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr13:58207106G>A	ENST00000377918.3	+	1	452	c.426G>A	c.(424-426)tcG>tcA	p.S142S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	142	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S142S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGACATCTCGGAGAACGCTG	0.617													21	24					0	0	0	0	A	58207106	G	A	58207106	2	1	63	1	0	0	0	0	0	0	0	1	11583	1103	39	1		1	PCDH17	13	58207106	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	5546683	58207106	56962772	111	12550											
EFS	10278	broad.mit.edu	37	chr14	23826643	23826643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcagaggctgccagcCggcccagggtgtccccaaca	8	3	16	14	1	0	1	0	0	0	1	1	2	1	1	5	5	3	2	5	5	1	0			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr14:23826643C>T	ENST00000216733.3	-	6	2085	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	EFS_ENST00000429593.2_Missense_Mutation_p.R324Q|EFS_ENST00000351354.3_Missense_Mutation_p.R400Q	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	493					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCTGCCAGCCGGCCCAGGGT	0.657													19	42					0	0	0	0	T	23826643	C	T	23826643	3	4	63	1	0	0	0	0	1	0	0	0	4995	652	23	1	211	1	EFS	14	23826643	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08		23826643	83522897	112	12551											
AKAP6	9472	broad.mit.edu	37	chr14	33147632	33147632	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaaaggaagagtttgctgAtatgtcaaaagttcattcag	14	11	11	5	1	3	2	3	1	0	1	3	4	3	3	0	1	1	3	0	1	5	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr14:33147632A>T	ENST00000280979.4	+	8	3016	c.2846A>T	c.(2845-2847)gAt>gTt	p.D949V	AKAP6_ENST00000557272.1_Missense_Mutation_p.D949V|AKAP6_ENST00000557354.1_Missense_Mutation_p.D949V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	949					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)		GAGTTTGCTGATATGTCAAAA	0.413													36	105					0	0	0	0	T	33147632	A	T	33147632	3	4	63	1	0	0	0	0	1	0	0	0	455	333	12	5	2872	5	AKAP6	14	33147632	Missense_Mutation	SNP	A	TCGA-CN-4729-01A-01D-1434-08	9320989	33147632	74201908	113	12552											
FRMD6	122786	broad.mit.edu	37	chr14	52194513	52194513	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcgacacagcttgagcctCgatgacatcagactttacca	12	9	8	12	2	1	3	1	2	0	1	3	6	1	3	2	0	3	1	2	0	1	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr14:52194513C>T	ENST00000395718.2	+	14	1896	c.1611C>T	c.(1609-1611)ctC>ctT	p.L537L	FRMD6_ENST00000553556.1_Silent_p.L187L|FRMD6_ENST00000356218.4_Silent_p.L537L|FRMD6_ENST00000554167.1_Silent_p.L468L|FRMD6_ENST00000344768.5_Silent_p.L545L	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	545						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GCTTGAGCCTCGATGACATCA	0.453													10	148					0	0	0	0	T	52194513	C	T	52194513	2	4	63	1	0	0	0	0	0	0	0	1	6102	871	31	1		1	FRMD6	14	52194513	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	19046881	52194513	55155027	114	12553											
PIF1	80119	broad.mit.edu	37	chr15	65114583	65114583	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgctttagcagatatgacttCcctgttcctggacaggggca	8	11	11	11	1	0	2	0	1	0	1	2	3	2	3	2	3	1	4	2	3	2	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:65114583C>T	ENST00000268043.4	-	4	793	c.699G>A	c.(697-699)ggG>ggA	p.G233G	PIF1_ENST00000333425.6_Silent_p.G233G|PIF1_ENST00000559239.1_Silent_p.G233G			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	233	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						GATATGACTTCCCTGTTCCTG	0.617													38	72					0	0	0	0	T	65114583	C	T	65114583	2	4	63	1	0	0	0	0	0	0	0	1	11955	842	30	2		2	PIF1	15	65114583	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08		65114583	37416809	115	12554											
UACA	55075	broad.mit.edu	37	chr15	70960340	70960340	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttatttttacaaattcctGatttatatcttcaaattttt	11	24	1	5	0	2	1	1	1	1	0	3	1	3	1	1	0	1	0	1	0	6	12			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:70960340G>C	ENST00000322954.6	-	16	2868	c.2683C>G	c.(2683-2685)Cag>Gag	p.Q895E	UACA_ENST00000379983.2_Missense_Mutation_p.Q882E|UACA_ENST00000539319.1_Missense_Mutation_p.Q786E|UACA_ENST00000560441.1_Missense_Mutation_p.Q880E	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	895						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACAAATTCCTGATTTATATCT	0.308													11	33					0	0	0	0	C	70960340	G	C	70960340	3	2	63	1	0	0	0	0	1	0	0	0	16920	1299	45	2	1583	2	UACA	15	70960340	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	5845757	70960340	31571052	116	12555											
SEMA7A	8482	broad.mit.edu	37	chr15	74707066	74707066	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaaggtctctgtgggtatCggctgctggtctgggaggca	5	11	18	7	1	2	0	0	0	2	0	4	2	2	2	0	7	1	4	0	7	2	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:74707066C>T	ENST00000261918.4	-	10	1664	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	SEMA7A_ENST00000543145.2_Silent_p.P358P|SEMA7A_ENST00000542748.1_Silent_p.P207P	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	372	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CTGTGGGTATCGGCTGCTGGT	0.652													42	117					0	0	0	0	T	74707066	C	T	74707066	2	4	63	1	0	0	0	0	0	0	0	1	14130	871	31	1		1	SEMA7A	15	74707066	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	3746726	74707066	27824326	117	12556											
CTSH	1512	broad.mit.edu	37	chr15	79231500	79231500	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttagacatccatgacttGaagtgaaacttctctgtaaa	14	12	6	9	0	1	4	0	3	1	1	3	4	2	4	2	0	1	1	2	0	5	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:79231500G>A	ENST00000220166.5	-	2	214	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	35					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TCCATGACTTGAAGTGAAACT	0.368													9	60					0	0	0	0	A	79231500	G	A	79231500	2	1	63	1	0	0	0	0	0	0	0	1	4068	1281	45	2		2	CTSH	15	79231500	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	4524434	79231500	23299892	118	12557											
KIAA1199	57214	broad.mit.edu	37	chr15	81224351	81224351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgcccccataacaacGtgaccggcattgcctttgag	10	8	10	13	2	0	3	0	2	0	1	0	3	0	3	4	1	5	2	4	1	2	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:81224351G>A	ENST00000394685.3	+	22	3183	c.2764G>A	c.(2764-2766)Gtg>Atg	p.V922M	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.V922M|KIAA1199_ENST00000356249.5_Missense_Mutation_p.V922M			Q8WUJ3	K1199_HUMAN	KIAA1199	922										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCATAACAACGTGACCGGCAT	0.602													52	217					0	0	0	0	A	81224351	G	A	81224351	3	1	63	1	0	0	0	0	1	0	0	0	8264	1145	40	1	2842	1	KIAA1199	15	81224351	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	1992851	81224351	21307041	119	12558											
PEX11A	8800	broad.mit.edu	37	chr15	90229778	90229778	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcatgtgtactgagtggctCtgaaatggaaaaaaaaaaat	17	10	10	4	0	1	2	0	2	1	0	1	3	1	3	0	2	2	3	0	2	7	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:90229778C>G	ENST00000300056.3	-	2	206		c.e2-1		PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Splice_Site|PEX11A_ENST00000561257.1_Splice_Site|PEX11A_ENST00000559170.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha						cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	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)			CTGAGTGGCTCTGAAATGGAA	0.378													15	169					0	0	0	0	G	90229778	C	G	90229778	5	3	63	1	0	0	0	0	0	0	1	0	11809	927	32	2	695	2	PEX11A	15	90229778	Splice_Site	SNP	C	TCGA-CN-4729-01A-01D-1434-08	9005427	90229778	12301614	120	12559											
TUFM	7284	broad.mit.edu	37	chr16	28856350	28856350	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaccaggatgcagccgtcGaggggtgcagtgcctgtgat	8	7	15	11	2	0	1	0	1	0	0	1	3	0	2	4	3	4	2	4	3	0	0			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr16:28856350G>A	ENST00000313511.3	-	4	579	c.441C>T	c.(439-441)ctC>ctT	p.L147L		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	144						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.L147L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						TGCAGCCGTCGAGGGGTGCAG	0.542													18	85					0	0	0	0	A	28856350	G	A	28856350	2	1	63	1	0	0	0	0	0	0	0	1	16867	1045	37	1		1	TUFM	16	28856350	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08		28856350	61498403	121	12560											
NLRC5	84166	broad.mit.edu	37	chr16	57088721	57088721	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggccaacaccttaagcCtgtgtccacgggttaaaaag	11	9	10	11	1	0	0	0	0	0	0	1	0	1	0	4	2	3	2	4	2	5	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr16:57088721C>T	ENST00000436936.1	+	25	3790	c.3565C>T	c.(3565-3567)Ctg>Ttg	p.L1189L	NLRC5_ENST00000262510.6_Silent_p.L1189L|NLRC5_ENST00000539144.1_Silent_p.L1189L|NLRC5_ENST00000308149.7_Silent_p.L1189L|RP11-322D14.2_ENST00000562970.1_RNA			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1189					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CACCTTAAGCCTGTGTCCACG	0.577													99	297					0	0	0	0	T	57088721	C	T	57088721	2	4	63	1	0	0	0	0	0	0	0	1	10540	680	24	4		4	NLRC5	16	57088721	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	28232371	57088721	33266032	122	12561											
ZNF319	57567	broad.mit.edu	37	chr16	58030907	58030907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggccgctcggccgcgccGggcaggcacttgtgccgcag	5	4	17	15	6	0	0	0	0	0	0	1	0	0	0	4	4	1	4	4	4	1	1	rs150126886		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr16:58030907G>A	ENST00000299237.2	-	2	1885	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGGCCGCGCCGGGCAGGCACT	0.662													7	55					0	0	0	0	A	58030907	G	A	58030907	2	1	63	1	0	0	0	0	0	0	0	1	17932	1103	39	1		1	ZNF319	16	58030907	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	942186	58030907	32323846	123	12562											
DDX19A	55308	broad.mit.edu	37	chr16	70398481	70398481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagtctcagtctggcaCtggtaaaacagctgcctttg	8	11	10	12	0	2	0	1	0	2	0	3	0	2	0	2	2	4	3	2	2	2	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr16:70398481C>A	ENST00000302243.7	+	6	585	c.422C>A	c.(421-423)aCt>aAt	p.T141N	RP11-529K1.3_ENST00000567706.1_Intron|DDX19A_ENST00000443119.2_Missense_Mutation_p.T51N|DDX19A_ENST00000417604.2_Missense_Mutation_p.T110N	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				CAGTCTGGCACTGGTAAAACA	0.498													3	81					0.00909568	0.00922944	1	0	A	70398481	C	A	70398481	3	1	63	1	0	0	0	0	1	0	0	0	4378	565	20	4	444	4	DDX19A	16	70398481	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	12367574	70398481	19956272	124	12563											
PHLPP2	23035	broad.mit.edu	37	chr16	71710374	71710374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaactggcatagagggtccGaagggaaaagccactgagtg	13	5	16	7	1	0	2	0	1	0	1	1	5	1	4	2	4	2	1	2	4	5	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr16:71710374G>A	ENST00000393524.2	-	8	2180	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	PHLPP2_ENST00000360429.3_Missense_Mutation_p.R483W|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R483W|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R483W|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R518W			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	483						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TAGAGGGTCCGAAGGGAAAAG	0.502													7	51					0	0	0	0	A	71710374	G	A	71710374	3	1	63	1	0	0	0	0	1	0	0	0	11927	1057	37	1	2568	1	PHLPP2	16	71710374	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	1311893	71710374	18644379	125	12564											
SMG6	23293	broad.mit.edu	37	chr17	2203496	2203496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcctccttcgcaacatttCccctacactcatcttcctct	6	15	1	19	1	3	0	1	0	2	0	8	0	7	0	5	0	2	1	5	0	2	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:2203496C>T	ENST00000544865.1	-	2	968	c.458G>A	c.(457-459)gGa>gAa	p.G153E	SMG6_ENST00000263073.5_Missense_Mutation_p.G184E			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	184	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGCAACATTTCCCCTACACTC	0.502													131	582					0	0	0	0	T	2203496	C	T	2203496	3	4	63	1	0	0	0	0	1	0	0	0	14885	855	30	2	3780	2	SMG6	17	2203496	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08		2203496	78991714	126	12565											
OR1G1	8390	broad.mit.edu	37	chr17	3030782	3030782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaagaggggcttctgctcctCcagctgctcagagaacccca	10	7	10	14	0	2	2	1	0	1	2	4	3	4	2	4	2	4	4	4	2	2	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:3030782C>T	ENST00000328890.2	-	1	93	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TTCTGCTCCTCCAGCTGCTCA	0.493													12	112					0	0	0	0	T	3030782	C	T	3030782	3	4	63	1	0	0	0	0	1	0	0	0	11028	864	30	2	881	2	OR1G1	17	3030782	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	827286	3030782	78164428	127	12566											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	53					0	0	0	0	C	7578394	T	C	7578394	3	2	63	1	0	0	0	0	1	0	0	0	16476	1464	51	5	762	5	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-CN-4729-01A-01D-1434-08	4547612	7578394	73616816	128	12567											
TP53	7157	broad.mit.edu	37	chr17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatggccatggcgcggaCgcgggtgccgggcgggggtg	4	5	23	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	1	rs121912654		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCGCGGACGCGGGTGCCG	0.617		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	63					2.70639e-06	2.81519e-06	1	0	A	7578461	C	A	7578461	3	1	63	1	0	0	0	0	1	0	0	0	16476	536	19	3	829	3	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	67	7578461	73616749	129	12568											
WRAP53	55135	broad.mit.edu	37	chr17	7604804	7604804	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcagccgggagaacccGattcatatctgggacgcatt	11	7	12	11	3	2	1	1	0	1	1	2	4	2	2	2	2	4	3	2	2	2	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:7604804G>T	ENST00000316024.5	+	5	3107	c.759G>T	c.(757-759)ccG>ccT	p.P253P	WRAP53_ENST00000457584.2_Silent_p.P253P|WRAP53_ENST00000396463.2_Silent_p.P253P|WRAP53_ENST00000534050.1_Silent_p.P220P|WRAP53_ENST00000431639.2_Silent_p.P253P			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	253					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GGGAGAACCCGATTCATATCT	0.607													40	119					3.4345e-17	3.94967e-17	1	0	T	7604804	G	T	7604804	2	4	63	1	0	0	0	0	0	0	0	1	17496	1045	37	3		3	WRAP53	17	7604804	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	26343	7604804	73590406	130	12569											
PER1	5187	broad.mit.edu	37	chr17	8049769	8049769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggtataggaggaggaGgaggcacatttacgcttagt	11	9	17	4	1	0	0	0	0	0	0	0	5	0	4	0	7	1	3	0	7	4	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:8049769G>A	ENST00000317276.4	-	16	2196	c.1959C>T	c.(1957-1959)tcC>tcT	p.S653S	PER1_ENST00000354903.5_Silent_p.S637S|PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Silent_p.S633S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	653	CSNK1E binding domain (By similarity).|Poly-Ser.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGAGGAGGAGGAGGCACATT	0.587			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					41	126					0	0	0	0	A	8049769	G	A	8049769	2	1	63	1	0	0	0	0	0	0	0	1	11800	987	35	4		4	PER1	17	8049769	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	444965	8049769	73145441	131	12570											
KRTAP4-5	85289	broad.mit.edu	37	chr17	39305733	39305733	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacacagcagctggggcagCagcaggtggtcctgcagcag	10	4	15	12	0	0	0	0	0	0	0	1	0	1	0	1	4	6	7	1	4	0	0			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:39305733C>A	ENST00000343246.4	-	1	321	c.287G>T	c.(286-288)tGc>tTc	p.C96F		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	101	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gctggggcagcagcaggtggt	0.662													14	39					2.35188e-11	2.58957e-11	1	0	A	39305733	C	A	39305733	3	1	63	1	0	0	0	0	1	0	0	0	8607	710	25	4	262	4	KRTAP4-5	17	39305733	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	31255964	39305733	41889477	132	12571											
SLC4A1	6521	broad.mit.edu	37	chr17	42335957	42335957	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggagtgcagcagctcccctCggctctgagccatgtaggca	7	7	14	13	1	1	1	0	1	1	0	3	2	2	2	3	3	4	6	3	3	1	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:42335957C>G	ENST00000262418.6	-	10	1066	c.911G>C	c.(910-912)cGa>cCa	p.R304P	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	304					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGCTCCCCTCGGCTCTGAGC	0.647													5	27					0	0	0	0	G	42335957	C	G	42335957	3	3	63	1	0	0	0	0	1	0	0	0	14738	884	31	3	1868	3	SLC4A1	17	42335957	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	3030224	42335957	38859253	133	12572											
ITGA3	3675	broad.mit.edu	37	chr17	48166566	48166566	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagcgctacccacctccaggGagcaccctgcccaccaagaa	11	3	9	18	1	0	1	0	0	0	1	1	3	1	2	6	1	4	2	6	1	3	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:48166566G>A	ENST00000007722.7	+	25	3138	c.3138G>A	c.(3136-3138)ggG>ggA	p.G1046G	ITGA3_ENST00000320031.8_3'UTR			P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	0					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CACCTCCAGGGAGCACCCTGC	0.602													50	190					0	0	0	0	A	48166566	G	A	48166566	2	1	63	1	0	0	0	0	0	0	0	1	7930	1161	41	2		2	ITGA3	17	48166566	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	5830609	48166566	33028644	134	12573											
RNF213	57674	broad.mit.edu	37	chr17	78321813	78321813	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctaccactcggacgcctgCgcgtctgtggtgctgcaggt	4	9	15	13	4	1	0	0	0	1	0	2	1	1	1	2	4	4	3	2	4	1	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:78321813C>T	ENST00000582970.1	+	29	9821	c.9678C>T	c.(9676-9678)tgC>tgT	p.C3226C	RNF213_ENST00000336301.6_Silent_p.C1299C|RNF213_ENST00000508628.2_Silent_p.C3275C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGGACGCCTGCGCGTCTGTGG	0.562													6	30					0	0	0	0	T	78321813	C	T	78321813	2	4	63	1	0	0	0	0	0	0	0	1	13562	776	27	1		1	RNF213	17	78321813	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	30155247	78321813	2873397	135	12574											
ROCK1	6093	broad.mit.edu	37	chr18	18534783	18534783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctctttcttatctaagtGatctctgtggcacttaacat	8	17	6	10	0	4	1	0	1	4	0	6	1	5	1	1	1	1	1	1	1	3	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr18:18534783G>T	ENST00000399799.1	-	31	4754	c.3814C>A	c.(3814-3816)Cac>Aac	p.H1272N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1272	Auto-inhibitory.|PH.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTATCTAAGTGATCTCTGTGG	0.393													11	195					1.15088e-07	1.2093e-07	1	0	T	18534783	G	T	18534783	3	4	63	1	0	0	0	0	1	0	0	0	13602	1290	45	2	262	2	ROCK1	18	18534783	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08		18534783	59542465	136	12575											
CCDC102B	79839	broad.mit.edu	37	chr18	66541993	66541993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaatctcaaaacagcaaaGacagagtgatttgtgagtta	17	9	8	7	0	1	4	1	2	1	2	2	4	1	4	1	0	2	2	1	0	5	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr18:66541993G>A	ENST00000360242.5	+	5	1141	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	CCDC102B_ENST00000358653.5_Missense_Mutation_p.D342N|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D342N|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D342N|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	342										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAACAGCAAAGACAGAGTGAT	0.333													9	87					0	0	0	0	A	66541993	G	A	66541993	3	1	63	1	0	0	0	0	1	0	0	0	2762	942	33	2	1038	2	CCDC102B	18	66541993	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	48007210	66541993	11535255	137	12576											
CCDC102B	79839	broad.mit.edu	37	chr18	66564499	66564499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctcggagtgggacaagaGggaaatacttgaaagagaaa	17	6	13	5	1	0	3	0	1	0	2	1	7	0	6	1	3	2	0	1	3	6	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr18:66564499G>T	ENST00000360242.5	+	6	1214	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M	CCDC102B_ENST00000358653.5_Missense_Mutation_p.R366M|CCDC102B_ENST00000319445.6_Missense_Mutation_p.R366M|CCDC102B_ENST00000584156.1_Missense_Mutation_p.R366M|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	366										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGGGACAAGAGGGAAATACTT	0.403													24	105					1.66031e-10	1.79939e-10	1	0	T	66564499	G	T	66564499	3	4	63	1	0	0	0	0	1	0	0	0	2762	1000	35	4	1115	4	CCDC102B	18	66564499	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	22506	66564499	11512749	138	12577											
TSHZ1	10194	broad.mit.edu	37	chr18	72999255	72999255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagcctcacgcccccaccGcacaagagcaacgtgtctgc	9	4	11	17	3	2	1	1	0	1	1	2	2	2	2	4	1	4	2	4	1	2	0	rs145239521		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr18:72999255G>A	ENST00000322038.5	+	2	2342	c.1758G>A	c.(1756-1758)ccG>ccA	p.P586P	TSHZ1_ENST00000580243.1_Silent_p.P631P	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	631						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGCCCCCACCGCACAAGAGCA	0.632													3	60					0	0	0	0	A	72999255	G	A	72999255	2	1	63	1	0	0	0	0	0	0	0	1	16718	1074	38	1		1	TSHZ1	18	72999255	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	6434756	72999255	5077993	139	12578											
ISYNA1	51477	broad.mit.edu	37	chr19	18546863	18546863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgaggccggagccaatgagGaagtccacaagcacggactt	12	6	13	10	2	0	2	0	2	0	0	1	5	1	5	3	4	2	1	3	4	3	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:18546863G>T	ENST00000545187.1	-	4	790	c.504C>A	c.(502-504)ttC>ttA	p.F168L	ISYNA1_ENST00000338128.7_Missense_Mutation_p.F318L|ISYNA1_ENST00000457269.3_Missense_Mutation_p.F264L|ISYNA1_ENST00000578963.1_Missense_Mutation_p.F190L|ISYNA1_ENST00000317018.6_Missense_Mutation_p.F116L			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	318					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						AGCCAATGAGGAAGTCCACAA	0.652													12	35					7.03913e-09	7.4723e-09	1	0	T	18546863	G	T	18546863	3	4	63	1	0	0	0	0	1	0	0	0	7920	1165	41	2	742	2	ISYNA1	19	18546863	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08		18546863	40582120	140	12579											
ZNF708	7562	broad.mit.edu	37	chr19	21476477	21476477	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttagtaaggattgagaataTactaaaggctttaccacatt	15	14	7	5	0	0	1	0	1	0	1	0	3	0	2	1	2	2	2	1	2	8	10	rs149009596		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:21476477T>C	ENST00000356929.3	-	4	1488	c.1291A>G	c.(1291-1293)Ata>Gta	p.I431V		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ATTGAGAATATACTAAAGGCT	0.328													20	70					0	0	0	0	C	21476477	T	C	21476477	3	2	63	1	0	0	0	0	1	0	0	0	18207	1406	49	5	404	5	ZNF708	19	21476477	Missense_Mutation	SNP	T	TCGA-CN-4729-01A-01D-1434-08	2929614	21476477	37652506	141	12580											
ZBTB32	27033	broad.mit.edu	37	chr19	36207617	36207617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgaggccgtctcggccctCgacctctccctgttgtcctt	2	12	9	18	4	2	0	0	0	2	0	7	2	3	0	5	2	0	1	5	2	0	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:36207617C>T	ENST00000392197.2	+	7	1745	c.1427C>T	c.(1426-1428)tCg>tTg	p.S476L	ZBTB32_ENST00000262630.3_Missense_Mutation_p.S476L			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	476					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTCGGCCCTCGACCTCTCCC	0.632											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	158					0	0	0	0	T	36207617	C	T	36207617	3	4	63	1	0	0	0	0	1	0	0	0	17630	893	31	1	1445	1	ZBTB32	19	36207617	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	14731140	36207617	22921366	142	12581											
ZFP82	284406	broad.mit.edu	37	chr19	36883703	36883703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaatgttgcctaaaggcCttcttacattccttacattc	9	16	6	10	0	1	1	0	1	1	0	3	1	2	1	3	1	3	1	3	1	5	7			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:36883703C>T	ENST00000392161.3	-	5	1781	c.1539G>A	c.(1537-1539)aaG>aaA	p.K513K	ZFP82_ENST00000392171.1_Silent_p.K513K	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCTAAAGGCCTTCTTACATT	0.338													19	79					0	0	0	0	T	36883703	C	T	36883703	2	4	63	1	0	0	0	0	0	0	0	1	17748	680	24	4		4	ZFP82	19	36883703	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	676086	36883703	22245280	143	12582											
HKR1	284459	broad.mit.edu	37	chr19	37853704	37853704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgtgcaaggattgtggacGaggctttacttggaagtcga	9	12	15	5	2	0	0	0	0	0	0	1	5	0	3	0	4	2	2	0	4	3	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:37853704G>A	ENST00000591471.1	+	9	1829	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_Missense_Mutation_p.R318Q|HKR1_ENST00000392153.3_Missense_Mutation_p.R317Q|HKR1_ENST00000324411.4_Missense_Mutation_p.R336Q|HKR1_ENST00000541583.2_Missense_Mutation_p.R275Q|HKR1_ENST00000544914.1_Missense_Mutation_p.R63Q			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	336	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATTGTGGACGAGGCTTTACT	0.507													14	118					0	0	0	0	A	37853704	G	A	37853704	3	1	63	1	0	0	0	0	1	0	0	0	7244	1058	37	1	1021	1	HKR1	19	37853704	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	970001	37853704	21275279	144	12583											
HNRNPL	3191	broad.mit.edu	37	chr19	39340525	39340525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccatcgctcccgaccGcctccgctgctcgtccggct	3	9	8	21	6	1	0	1	0	0	0	6	1	4	0	6	1	1	4	6	1	0	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:39340525G>C	ENST00000221419.5	-	1	448	c.82C>G	c.(82-84)Cgg>Ggg	p.R28G	HNRNPL_ENST00000600873.1_Intron	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	28					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCTCCCGACCGCCTCCGCTGC	0.771													3	1					0	0	0	0	C	39340525	G	C	39340525	3	2	63	1	0	0	0	0	1	0	0	0	7320	1086	38	3	1739	3	HNRNPL	19	39340525	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	1486821	39340525	19788458	145	12584											
FCGBP	8857	broad.mit.edu	37	chr19	40357679	40357679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacggcctggtgggcagcCagctgcctggcatgtcaggc	6	7	15	13	1	1	0	1	0	0	0	1	0	1	0	3	5	4	3	3	5	1	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:40357679C>G	ENST00000221347.6	-	34	15641	c.15634G>C	c.(15634-15636)Ggc>Cgc	p.G5212R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5212	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTGGGCAGCCAGCTGCCTGG	0.622													19	72					0	0	0	0	G	40357679	C	G	40357679	3	3	63	1	0	0	0	0	1	0	0	0	5823	594	21	4	595	4	FCGBP	19	40357679	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	1017154	40357679	18771304	146	12585											
GIPR	2696	broad.mit.edu	37	chr19	46185005	46185005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcagtcggagatccgcCgtggctggcaccactgccgc	6	6	15	14	4	0	1	0	0	0	1	2	2	1	1	4	4	2	3	4	4	0	0			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:46185005C>G	ENST00000590918.1	+	14	1312	c.1213C>G	c.(1213-1215)Cgt>Ggt	p.R405G	GIPR_ENST00000263281.3_3'UTR|GIPR_ENST00000304207.8_Missense_Mutation_p.R369G	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	405					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGAGATCCGCCGTGGCTGGCA	0.776													7	7					0	0	0	0	G	46185005	C	G	46185005	3	3	63	1	0	0	0	0	1	0	0	0	6446	652	23	3	1263	3	GIPR	19	46185005	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	5827326	46185005	12943978	147	12586											
DMPK	1760	broad.mit.edu	37	chr19	46281829	46281829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagcgcgccatctcggccGgaatccgctccccaaacttg	9	6	10	16	5	1	1	0	0	1	1	4	2	3	2	5	2	2	1	5	2	3	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:46281829G>A	ENST00000600757.1	-	4	1220	c.533C>T	c.(532-534)cCg>cTg	p.P178L	DMPK_ENST00000291270.4_Missense_Mutation_p.P168L|DMPK_ENST00000354227.5_Missense_Mutation_p.P168L|DMPK_ENST00000458663.2_Missense_Mutation_p.P168L|DMPK_ENST00000343373.4_Missense_Mutation_p.P178L|DMPK_ENST00000447742.2_Missense_Mutation_p.P168L			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	178	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CATCTCGGCCGGAATCCGCTC	0.612													3	66					0	0	0	0	A	46281829	G	A	46281829	3	1	63	1	0	0	0	0	1	0	0	0	4621	1116	39	1	1437	1	DMPK	19	46281829	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	96824	46281829	12847154	148	12587											
ZNF264	9422	broad.mit.edu	37	chr19	57724189	57724189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacagatgtgggaagacCttttacaagtggacaaacct	14	10	10	7	0	0	2	0	0	0	2	0	4	0	4	2	2	3	1	2	2	5	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:57724189C>A	ENST00000263095.6	+	4	2138	c.1724C>A	c.(1723-1725)cCt>cAt	p.P575H	ZNF264_ENST00000536056.1_Missense_Mutation_p.P575H	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GTGGGAAGACCTTTTACAAGT	0.443													32	129					1.62565e-12	1.81897e-12	1	0	A	57724189	C	A	57724189	3	1	63	1	0	0	0	0	1	0	0	0	17899	681	24	4	1738	4	ZNF264	19	57724189	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	11442360	57724189	1404794	149	12588											
ZNF547	284306	broad.mit.edu	37	chr19	57889289	57889289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctacactcagtagacatcaGagagttcacactggagaaag	15	8	9	9	0	4	3	3	0	1	3	4	5	4	3	0	1	1	2	0	1	3	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:57889289G>C	ENST00000282282.3	+	4	1095	c.945G>C	c.(943-945)caG>caC	p.Q315H	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTAGACATCAGAGAGTTCACA	0.413													17	142					0	0	0	0	C	57889289	G	C	57889289	3	2	63	1	0	0	0	0	1	0	0	0	18074	933	33	2	955	2	ZNF547	19	57889289	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	165100	57889289	1239694	150	12589											
ZNF544	27300	broad.mit.edu	37	chr19	58772562	58772562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttaaagagttgaaacaaaAttcagctttcattaatcatg	17	13	6	5	0	3	2	3	1	0	1	3	2	3	2	0	0	2	3	0	0	6	5			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:58772562A>G	ENST00000269829.4	+	7	1064	c.590A>G	c.(589-591)aAt>aGt	p.N197S	CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.N169S|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596652.1_Missense_Mutation_p.N197S|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.N169S|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600220.1_Missense_Mutation_p.N169S|ZNF544_ENST00000599953.1_Missense_Mutation_p.N55S	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	197					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)		TTGAAACAAAATTCAGCTTTC	0.383													17	88					0	0	0	0	G	58772562	A	G	58772562	3	3	63	1	0	0	0	0	1	0	0	0	18072	101	4	5	604	5	ZNF544	19	58772562	Missense_Mutation	SNP	A	TCGA-CN-4729-01A-01D-1434-08	883273	58772562	356421	151	12590											
RBCK1	10616	broad.mit.edu	37	chr20	398254	398254	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatatgacagtggcgtctctCaaggacatggtgagtgagga	11	9	15	6	1	2	3	1	3	1	0	3	6	2	5	0	4	0	0	0	4	2	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr20:398254C>G	ENST00000356286.5	+	3	957	c.252C>G	c.(250-252)ctC>ctG	p.L84L	RBCK1_ENST00000353660.3_Silent_p.L42L|RBCK1_ENST00000382181.2_5'UTR	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	84	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TGGCGTCTCTCAAGGACATGG	0.602													4	73					0	0	0	0	G	398254	C	G	398254	2	3	63	1	0	0	0	0	0	0	0	1	13189	813	29	2		2	RBCK1	20	398254	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08		398254	62627266	152	12591											
PRDM15	63977	broad.mit.edu	37	chr21	43221744	43221745	+	Frame_Shift_Ins	INS	-	-	A																															aactggcgttcaggggtggtINSaaggtgccccacggccaccg																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr21:43221744_43221745insA	ENST00000422911.1	-	25	3353_3354	c.3252_3253insT	c.(3250-3255)ctccacfs	p.H1085fs	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Frame_Shift_Ins_p.H1065fs|PRDM15_ENST00000538201.1_Frame_Shift_Ins_p.H1048fs|PRDM15_ENST00000447207.2_Frame_Shift_Ins_p.H1028fs|PRDM15_ENST00000269844.3_Frame_Shift_Ins_p.H1394fs			P57071	PRD15_HUMAN	PR domain containing 15	1394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCAGGGGTGGTAAGGTGCCCCA	0.579													15	38	---	---	---	---					A	43221745	-	A	43221744	7	5	63	1	0	1	1	0	0	0	0	0	12536	1638	57	0	347	0	PRDM15	21	43221744	Frame_Shift_Ins	INS	-	TCGA-CN-4729-01A-01D-1434-08		43221744	4908151	153	12592											
ZDHHC8	29801	broad.mit.edu	37	chr22	20127356	20127356	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggtgggcgtcgtggccttCggcctggtctacgtgctgaa	4	11	16	10	4	1	1	0	1	1	0	3	1	1	1	2	5	2	1	2	5	2	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:20127356C>T	ENST00000334554.7	+	4	639	c.498C>T	c.(496-498)ttC>ttT	p.F166F	ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000320602.7_Intron|ZDHHC8_ENST00000405930.3_Silent_p.F166F	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	166						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.F166L(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TCGTGGCCTTCGGCCTGGTCT	0.602													10	67					0	0	0	0	T	20127356	C	T	20127356	2	4	63	1	0	0	0	0	0	0	0	1	17716	883	31	1		1	ZDHHC8	22	20127356	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08		20127356	31177210	154	12593											
SMARCB1	6598	broad.mit.edu	37	chr22	24135759	24135759	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacagatcacggatacacGactctagccaccagtgtgac	12	8	9	12	2	2	2	1	1	1	1	2	4	2	3	2	1	3	1	2	1	3	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:24135759G>T	ENST00000344921.6	+	3	426	c.219G>T	c.(217-219)acG>acT	p.T73T	SMARCB1_ENST00000407422.3_Silent_p.T73T|SMARCB1_ENST00000407082.3_Silent_p.T82T|SMARCB1_ENST00000263121.7_Silent_p.T82T			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	82					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				ACGGATACACGACTCTAGCCA	0.532			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							53	179					1.46156e-29	1.71899e-29	1	0	T	24135759	G	T	24135759	2	4	63	1	0	0	0	0	0	0	0	1	14862	1045	37	3		3	SMARCB1	22	24135759	Silent	SNP	G	TCGA-CN-4729-01A-01D-1434-08	4008403	24135759	27168807	155	12594											
CRYBA4	1413	broad.mit.edu	37	chr22	27024279	27024279	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgactcgaggctgacaatcTtcgagcaagagaacttcctg	11	9	11	10	2	1	3	0	2	1	1	4	6	2	3	1	1	2	2	1	1	3	2			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:27024279T>A	ENST00000354760.3	+	5	363	c.328T>A	c.(328-330)Ttc>Atc	p.F110I	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	110	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GCTGACAATCTTCGAGCAAGA	0.562													4	85					0	0	0	0	A	27024279	T	A	27024279	3	1	63	1	0	0	0	0	1	0	0	0	3939	1609	56	5	342	5	CRYBA4	22	27024279	Missense_Mutation	SNP	T	TCGA-CN-4729-01A-01D-1434-08	2888520	27024279	24280287	156	12595											
APOL4	80832	broad.mit.edu	37	chr22	36595382	36595392	+	Frame_Shift_Del	DEL	ACTGTCCAGCC	ACTGTCCAGCC	-																															tctgaaaggcttaccttggaActgtccagccactgtccagc																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:36595382_36595392delACTGTCCAGCC	ENST00000405511.1	-	4	488_498	c.66_76delGGCTGGACAGT	c.(64-78)gttcfs	p.VAGQF22fs	APOL4_ENST00000352371.1_Frame_Shift_Del_p.VAGQF25fs|APOL4_ENST00000397275.2_Frame_Shift_Del_p.WLDS40fs|APOL4_ENST00000328429.4_Frame_Shift_Del_p.WLDS40fs|APOL4_ENST00000404685.3_Frame_Shift_Del_p.VAGQF25fs|APOL4_ENST00000332987.1_Frame_Shift_Del_p.VAGQF22fs|APOL4_ENST00000429038.2_Frame_Shift_Del_p.VAGQF22fs|APOL4_ENST00000479929.1_5'UTR	NM_030643.3	NP_085146.2	Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	25					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						TTACCTTGGAACTGTCCAGCCACTGTCCAGC	0.54													7	75	---	---	---	---					-	36595392	ACTGTCCAGCC	-	36595382	7	5	63	1	0	1	0	1	0	0	0	0	810	43	2	0	980	0	APOL4	22	36595382	Frame_Shift_Del	DEL	ACTGTCCAGCC	TCGA-CN-4729-01A-01D-1434-08	9571103	36595382	14709184	157	12596											
ELFN2	114794	broad.mit.edu	37	chr22	37770534	37770534	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcccgcagtttgtccagCgtcacgatctccttcttgtt	4	14	9	14	4	3	0	1	0	2	0	5	1	4	0	3	0	2	3	3	0	0	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:37770534C>T	ENST00000402918.1	-	3	1826	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	ELFN2_ENST00000349653.3_Silent_p.T347T|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	347	Fibronectin type-III.					cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GTTTGTCCAGCGTCACGATCT	0.572													53	141					0	0	0	0	T	37770534	C	T	37770534	2	4	63	1	0	0	0	0	0	0	0	1	5096	755	27	1		1	ELFN2	22	37770534	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	1175152	37770534	13534032	158	12597											
L3MBTL2	83746	broad.mit.edu	37	chr22	41623203	41623203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagtggtgcatcggctcctCagcatccactttgacggctg	6	10	12	13	3	1	1	1	1	0	0	4	2	3	1	2	3	2	4	2	3	0	1			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:41623203C>T	ENST00000216237.5	+	14	1856	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	566					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCGGCTCCTCAGCATCCACT	0.627													3	28					0	0	0	0	T	41623203	C	T	41623203	2	4	63	1	0	0	0	0	0	0	0	1	8645	813	29	2		2	L3MBTL2	22	41623203	Silent	SNP	C	TCGA-CN-4729-01A-01D-1434-08	3852669	41623203	9681363	159	12598											
BEND2	139105	broad.mit.edu	37	chrX	18234753	18234753	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acataagtggaatcatctgcTatgtcattagtggaattatc	13	14	8	6	0	3	0	2	0	1	0	4	2	3	2	0	2	1	1	0	2	6	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chrX:18234753T>A	ENST00000380033.4	-	2	258	c.126A>T	c.(124-126)atA>atT	p.I42I	BEND2_ENST00000380030.3_Silent_p.I42I	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	42										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AATCATCTGCTATGTCATTAG	0.418													26	33					0	0	0	0	A	18234753	T	A	18234753	2	1	63	1	0	0	0	0	0	0	0	1	1402	1512	53	5		5	BEND2	23	18234753	Silent	SNP	T	TCGA-CN-4729-01A-01D-1434-08		18234753	137035807	160	12599											
DMD	1756	broad.mit.edu	37	chrX	32482777	32482777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctccttcagaaaaacatCaacttcagccatccatttct	12	13	2	14	0	4	1	3	0	1	1	7	1	7	1	4	0	3	0	4	0	3	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chrX:32482777C>T	ENST00000357033.4	-	24	3408	c.3202G>A	c.(3202-3204)Gat>Aat	p.D1068N	DMD_ENST00000378677.2_Missense_Mutation_p.D1064N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1068					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGAAAAACATCAACTTCAGCC	0.388													12	84					0	0	0	0	T	32482777	C	T	32482777	3	4	63	1	0	0	0	0	1	0	0	0	4617	826	29	2	8322	2	DMD	23	32482777	Missense_Mutation	SNP	C	TCGA-CN-4729-01A-01D-1434-08	14248024	32482777	122787783	161	12600											
TFE3	7030	broad.mit.edu	37	chrX	48888088	48888088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaggtactggcaggccatGgatctgggcctgcagttcta	7	9	16	9	0	2	0	0	0	2	0	2	2	2	2	2	6	2	4	2	6	2	3			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chrX:48888088G>A	ENST00000315869.7	-	10	1568	c.1309C>T	c.(1309-1311)Cat>Tat	p.H437Y	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	437					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGCAGGCCATGGATCTGGGCC	0.547			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								10	32					0	0	0	0	A	48888088	G	A	48888088	3	1	63	1	0	0	0	0	1	0	0	0	15894	1348	47	4	422	4	TFE3	23	48888088	Missense_Mutation	SNP	G	TCGA-CN-4729-01A-01D-1434-08	16405311	48888088	106382472	162	12601											
HDX	139324	broad.mit.edu	37	chrX	83723928	83723928	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtaatcgctaactgccAatgaaaacacttcacggatt	13	9	10	9	2	1	1	1	1	0	0	2	2	1	2	1	3	3	2	1	3	5	4			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chrX:83723928A>G	ENST00000297977.5	-	3	914	c.803T>C	c.(802-804)tTg>tCg	p.L268S	HDX_ENST00000373177.2_Missense_Mutation_p.L268S|HDX_ENST00000506585.2_Missense_Mutation_p.L210S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GCTAACTGCCAATGAAAACAC	0.453													51	74					0	0	0	0	G	83723928	A	G	83723928	3	3	63	1	0	0	0	0	1	0	0	0	7076	131	5	5	1301	5	HDX	23	83723928	Missense_Mutation	SNP	A	TCGA-CN-4729-01A-01D-1434-08	34835840	83723928	71546632	163	12602											
IL9R	3581	broad.mit.edu	37	chrX	155231079	155231080	+	Frame_Shift_Ins	INS	-	-	T																															cccacctttccagtaactgcINStgcaagaacggacagacact																										TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chrX:155231079_155231080insT	ENST00000540897.1	+	2	89_90	c.21_22insT	c.(19-24)tggcaafs	p.WQ7fs	IL9R_ENST00000244174.5_Intron|IL9R_ENST00000369423.2_Frame_Shift_Ins_p.WQ17fs|IL9R_ENST00000424344.3_5'UTR	NM_176786.1	NP_789743.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	0					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTAACTGCTGCAAGAACGG	0.579													92	274	---	---	---	---					T	155231080	-	T	155231079	7	5	63	1	0	1	1	0	0	0	0	0	7761	812	28	0		0	IL9R	23	155231079	Frame_Shift_Ins	INS	-	TCGA-CN-4729-01A-01D-1434-08	71507151	155231079	39481	164	12603											
PARK7	11315	broad.mit.edu	37	chr1	8045049	8045049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgagtttgcgcttgcaattGttgaagccctgaatggcaag	9	12	12	8	2	0	2	0	2	0	0	1	3	0	2	1	1	3	5	1	1	4	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:8045049G>T	ENST00000493678.1	+	7	572	c.505G>T	c.(505-507)Gtt>Ttt	p.V169F	PARK7_ENST00000377491.1_Missense_Mutation_p.V169F|PARK7_ENST00000377493.5_Missense_Mutation_p.V149F|PARK7_ENST00000338639.5_Missense_Mutation_p.V169F|PARK7_ENST00000377488.1_Missense_Mutation_p.V169F			Q99497	PARK7_HUMAN	parkinson protein 7	169					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTGCAATTGTTGAAGCCCT	0.517													4	117					0.150653	0.153832	1	0	T	8045049	G	T	8045049	3	4	64	1	0	0	0	0	1	0	0	0	11521	1377	48	4	527	4	PARK7	1	8045049	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08		8045049	241205572	1	12604											
SYF2	25949	broad.mit.edu	37	chr1	25549911	25549911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctccggctatatttgtctCgtttttcaatcctggggaaa	7	16	9	9	2	3	0	1	0	2	0	6	1	4	1	2	3	0	2	2	3	4	5			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:25549911C>T	ENST00000236273.4	-	7	603	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	SYF2_ENST00000354361.3_Missense_Mutation_p.R151Q	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	193						catalytic step 2 spliceosome		p.R193L(1)		kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		ATATTTGTCTCGTTTTTCAAT	0.323													64	178					0	0	0	0	T	25549911	C	T	25549911	3	4	64	1	0	0	0	0	1	0	0	0	15528	884	31	1	157	1	SYF2	1	25549911	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	17504862	25549911	223700710	2	12605											
EXTL1	2134	broad.mit.edu	37	chr1	26349620	26349620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggggcaggaaccatctggtCctccgtctccacccggctcc	6	7	11	17	2	2	0	0	0	2	0	6	1	5	1	6	5	1	2	6	5	1	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:26349620C>T	ENST00000374280.3	+	1	1350	c.483C>T	c.(481-483)gtC>gtT	p.V161V		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	161					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		ACCATCTGGTCCTCCGTCTCC	0.667													30	69					0	0	0	0	T	26349620	C	T	26349620	2	4	64	1	0	0	0	0	0	0	0	1	5363	842	30	2		2	EXTL1	1	26349620	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	799709	26349620	222901001	3	12606											
DNAJC8	22826	broad.mit.edu	37	chr1	28536520	28536520	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcctgcctgaattacaTccagggccctcttcttttgc	5	16	6	14	0	2	1	0	1	2	0	4	1	4	1	4	1	3	0	4	1	2	6			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:28536520T>A	ENST00000263697.4	-	5	388	c.362A>T	c.(361-363)gAt>gTt	p.D121V	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	121	J.				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAATTACATCCAGGGCCCT	0.428													22	106					0	0	0	0	A	28536520	T	A	28536520	3	1	64	1	0	0	0	0	1	0	0	0	4691	1435	50	5	419	5	DNAJC8	1	28536520	Missense_Mutation	SNP	T	TCGA-CN-4730-01A-01D-1434-08	2186900	28536520	220714101	4	12607											
RIMS3	9783	broad.mit.edu	37	chr1	41107474	41107474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctccgccgcttcttggCggtggtggtcccagccccgc	1	9	14	17	4	1	0	0	0	1	0	3	0	3	0	5	4	2	3	5	4	0	2	rs149583022		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:41107474C>T	ENST00000372684.3	-	3	593	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	RIMS3_ENST00000372683.1_Missense_Mutation_p.A42T	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	42					neurotransmitter transport	cell junction|synapse		p.A42T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CGCTTCTTGGCGGTGGTGGTC	0.657													17	62					0	0	0	0	T	41107474	C	T	41107474	3	4	64	1	0	0	0	0	1	0	0	0	13454	768	27	1	826	1	RIMS3	1	41107474	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	12570954	41107474	208143147	5	12608											
FOXD3	27022	broad.mit.edu	37	chr1	63789386	63789386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactactggaccctggacccGcagtccgaggacatgttcga	10	7	11	13	3	0	0	0	0	0	0	2	5	1	3	3	3	2	2	3	3	2	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:63789386G>A	ENST00000371116.2	+	1	657	c.657G>A	c.(655-657)ccG>ccA	p.P219P	RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	219					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCTGGACCCGCAGTCCGAGG	0.642													5	186					0	0	0	0	A	63789386	G	A	63789386	2	1	64	1	0	0	0	0	0	0	0	1	6043	1074	38	1		1	FOXD3	1	63789386	Silent	SNP	G	TCGA-CN-4730-01A-01D-1434-08	22681912	63789386	185461235	6	12609											
C1orf173	127254	broad.mit.edu	37	chr1	75037806	75037806	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctattctccctgctggaCagctcttctctgtctttgtg	3	16	8	14	0	4	0	0	0	4	0	6	1	4	1	2	1	2	2	2	1	1	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:75037806C>T	ENST00000326665.5	-	14	3806	c.3588G>A	c.(3586-3588)ctG>ctA	p.L1196L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1196	Glu-rich.							p.L1196L(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						CCCTGCTGGACAGCTCTTCTC	0.552													129	198					0	0	0	0	T	75037806	C	T	75037806	2	4	64	1	0	0	0	0	0	0	0	1	2033	465	17	4		4	C1orf173	1	75037806	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	11248420	75037806	174212815	7	12610											
COL24A1	255631	broad.mit.edu	37	chr1	86499564	86499564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtactcacaggactgccatCaagaccagcagggcctctgt	10	8	10	13	0	3	1	2	0	1	1	3	2	3	2	3	2	3	2	3	2	2	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:86499564C>A	ENST00000370571.2	-	13	2359	c.1993G>T	c.(1993-1995)Gat>Tat	p.D665Y	COL24A1_ENST00000436319.1_Missense_Mutation_p.D665Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	665	Collagen-like 3.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGACTGCCATCAAGACCAGCA	0.403													9	35					4.68919e-08	4.99905e-08	1	0	A	86499564	C	A	86499564	3	1	64	1	0	0	0	0	1	0	0	0	3713	826	29	2	3343	2	COL24A1	1	86499564	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	11461758	86499564	162751057	8	12611											
CCDC18	343099	broad.mit.edu	37	chr1	93649684	93649684	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagcagcactgattttcAaaaaaagccaagagataagg	17	8	10	6	0	1	2	1	1	0	1	1	3	1	2	1	2	3	3	1	2	6	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:93649684A>C	ENST00000343253.7	+	3	786	c.284A>C	c.(283-285)cAa>cCa	p.Q95P	CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.Q95P|CCDC18_ENST00000557479.1_Missense_Mutation_p.Q213P			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	95										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ACTGATTTTCAAAAAAAGCCA	0.308													17	78					0	0	0	0	C	93649684	A	C	93649684	3	2	64	1	0	0	0	0	1	0	0	0	2820	130	5	5	648	5	CCDC18	1	93649684	Missense_Mutation	SNP	A	TCGA-CN-4730-01A-01D-1434-08	7150120	93649684	155600937	9	12612											
BCL9	607	broad.mit.edu	37	chr1	147094302	147094302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actcccctccagctcgttctCccaacttgccatcaatgaat	9	11	4	17	1	2	1	1	1	1	0	6	1	4	1	5	0	3	2	5	0	3	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:147094302C>T	ENST00000234739.3	+	9	3873	c.3133C>T	c.(3133-3135)Ccc>Tcc	p.P1045S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1045	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGCTCGTTCTCCCAACTTGCC	0.478			T	"IGH@, IGL@"	B-ALL								71	105					0	0	0	0	T	147094302	C	T	147094302	3	4	64	1	0	0	0	0	1	0	0	0	1385	855	30	2	3155	2	BCL9	1	147094302	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	53444618	147094302	102156319	10	12613											
GATAD2B	57459	broad.mit.edu	37	chr1	153788833	153788833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcactaggcaagaaatGaagtaagggagcaggaggtt	14	6	16	5	0	0	2	0	1	0	1	0	4	0	4	0	5	2	6	0	5	5	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:153788833G>T	ENST00000368655.4	-	7	1375	c.1132C>A	c.(1132-1134)Cat>Aat	p.H378N		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	378	CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCAAGAAATGAAGTAAGGGA	0.502													18	105					5.01169e-05	5.27317e-05	1	0	T	153788833	G	T	153788833	3	4	64	1	0	0	0	0	1	0	0	0	6310	1290	45	2	669	2	GATAD2B	1	153788833	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	6694531	153788833	95461788	11	12614											
OR6K6	128371	broad.mit.edu	37	chr1	158724637	158724637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcagtgggtaatcaacattCcaattataggagtctcttgt	11	15	8	7	0	3	0	2	0	1	0	5	1	4	1	1	2	1	1	1	2	5	6			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:158724637C>A	ENST00000368144.2	+	1	128	c.32C>A	c.(31-33)tCc>tAc	p.S11Y		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					AATCAACATTCCAATTATAGG	0.393													28	87					2.12542e-12	2.29621e-12	1	0	A	158724637	C	A	158724637	3	1	64	1	0	0	0	0	1	0	0	0	11275	855	30	2	34	2	OR6K6	1	158724637	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	4935804	158724637	90525984	12	12615											
ATP1A4	480	broad.mit.edu	37	chr1	160134194	160134194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggccaatgtgcctgagGggctgttggccacagtcact	6	11	14	10	0	1	1	1	1	0	0	1	1	1	1	3	4	1	2	3	4	1	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:160134194G>T	ENST00000368081.4	+	7	1498	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	343					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGCCTGAGGGGCTGTTGGC	0.512													68	263					2.10328e-26	2.33484e-26	1	0	T	160134194	G	T	160134194	3	4	64	1	0	0	0	0	1	0	0	0	1135	1232	43	4	1053	4	ATP1A4	1	160134194	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	1409557	160134194	89116427	13	12616											
CACYBP	27101	broad.mit.edu	37	chr1	174977745	174977745	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttcctgcttttcttccagGtcaagactgatacagttctt	7	18	6	10	0	3	2	1	1	2	1	5	2	5	2	2	1	2	2	2	1	2	8			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:174977745G>A	ENST00000367681.2	+	5	944	c.303_splice	c.e5-1	p.V102_splice	CACYBP_ENST00000367679.2_Splice_Site_p.V145_splice|CACYBP_ENST00000405362.1_Splice_Site_p.V102_splice	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	145	CS.|Interaction with SKP1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						TTTCTTCCAGGTCAAGACTGA	0.353													21	82					0	0	0	0	A	174977745	G	A	174977745	5	1	64	1	0	0	0	0	0	0	1	0	2589	1275	44	4	451	4	CACYBP	1	174977745	Splice_Site	SNP	G	TCGA-CN-4730-01A-01D-1434-08	14843551	174977745	74272876	14	12617											
IPO9	55705	broad.mit.edu	37	chr1	201824934	201824934	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtcctgggctttgaaaatCtcgtctttagcatttttgaa	10	16	8	7	1	2	2	0	2	2	0	4	2	3	2	1	1	1	2	1	1	5	5			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:201824934C>G	ENST00000361565.4	+	10	1063	c.994C>G	c.(994-996)Ctc>Gtc	p.L332V		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	332					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTTTGAAAATCTCGTCTTTAG	0.328													24	70					0	0	0	0	G	201824934	C	G	201824934	3	3	64	1	0	0	0	0	1	0	0	0	7852	913	32	2	1032	2	IPO9	1	201824934	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	26847189	201824934	47425687	15	12618											
BTG2	7832	broad.mit.edu	37	chr1	203276399	203276399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagcgagctgaccctgtggGtggacccctatgaggtgtcc	6	8	14	13	1	0	2	0	2	0	0	1	4	1	3	5	3	2	1	5	3	1	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:203276399G>A	ENST00000290551.4	+	2	381	c.310G>A	c.(310-312)Gtg>Atg	p.V104M		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	104					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GACCCTGTGGGTGGACCCCTA	0.652													48	82					0	0	0	0	A	203276399	G	A	203276399	3	1	64	1	0	0	0	0	1	0	0	0	1563	1261	44	4	316	4	BTG2	1	203276399	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	1451465	203276399	45974222	16	12619											
LEFTY2	7044	broad.mit.edu	37	chr1	226127192	226127192	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagatgctccctctgcacCgacacctgtagcagcagcgg	8	6	10	17	2	1	1	0	0	1	1	2	2	2	1	4	1	5	5	4	1	1	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:226127192C>T	ENST00000366820.5	-	3	954	c.606G>A	c.(604-606)tcG>tcA	p.S202S	LEFTY2_ENST00000420304.2_Silent_p.S168S|LEFTY2_ENST00000474493.1_5'UTR	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	202					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CCCTCTGCACCGACACCTGTA	0.721													6	21					0	0	0	0	T	226127192	C	T	226127192	2	4	64	1	0	0	0	0	0	0	0	1	8769	639	23	1		1	LEFTY2	1	226127192	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	22850793	226127192	23123429	17	12620											
RYR2	6262	broad.mit.edu	37	chr1	237829847	237829847	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccatggttacagtccccgGgccattgacatgagcaatgt	9	9	11	12	1	0	2	0	2	0	0	1	2	1	2	4	2	2	2	4	2	2	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:237829847G>T	ENST00000366574.2	+	57	8789	c.8472G>T	c.(8470-8472)cgG>cgT	p.R2824R	RYR2_ENST00000542537.1_Silent_p.R2808R|RYR2_ENST00000360064.6_Silent_p.R2822R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2824	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAGTCCCCGGGCCATTGACA	0.363													11	23					3.03607e-14	3.30959e-14	1	0	T	237829847	G	T	237829847	2	4	64	1	0	0	0	0	0	0	0	1	13854	1219	43	4		4	RYR2	1	237829847	Silent	SNP	G	TCGA-CN-4730-01A-01D-1434-08	11702655	237829847	11420774	18	12621											
APOB	338	broad.mit.edu	37	chr2	21231200	21231200	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attttccctcaatagcatttCcaaaaaacagcatttcactc	14	13	2	12	0	2	0	2	0	0	0	5	0	4	0	2	0	3	2	2	0	5	5			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:21231200C>A	ENST00000233242.1	-	26	8667	c.8540G>T	c.(8539-8541)gGa>gTa	p.G2847V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2847					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATAGCATTTCCAAAAAACAG	0.413													61	271					5.86059e-21	6.47608e-21	1	0	A	21231200	C	A	21231200	3	1	64	1	0	0	0	0	1	0	0	0	787	855	30	2	5167	2	APOB	2	21231200	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08		21231200	221968173	19	12622											
EHD3	30845	broad.mit.edu	37	chr2	31483527	31483527	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacaagatgcgagtggtgctGaacaaagctgaccagatcga	14	6	13	8	2	0	4	0	2	0	2	1	7	0	4	1	1	4	2	1	1	3	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:31483527G>C	ENST00000322054.5	+	4	939	c.654G>C	c.(652-654)ctG>ctC	p.L218L	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	218					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GAGTGGTGCTGAACAAAGCTG	0.547													18	59					0	0	0	0	C	31483527	G	C	31483527	2	2	64	1	0	0	0	0	0	0	0	1	5015	1277	45	2		2	EHD3	2	31483527	Silent	SNP	G	TCGA-CN-4730-01A-01D-1434-08	10252327	31483527	211715846	20	12623											
BIRC6	57448	broad.mit.edu	37	chr2	32701366	32701366	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtaacaaaggatcatcatAtaaactcctggtagaacaag	19	8	7	7	0	2	1	2	0	0	1	3	2	3	2	1	2	3	2	1	2	9	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:32701366A>G	ENST00000421745.2	+	34	6940	c.6806A>G	c.(6805-6807)tAt>tGt	p.Y2269C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2269					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGATCATCATATAAACTCCTG	0.318													3	6					0	0	0	0	G	32701366	A	G	32701366	3	3	64	1	0	0	0	0	1	0	0	0	1443	449	16	5	6940	5	BIRC6	2	32701366	Missense_Mutation	SNP	A	TCGA-CN-4730-01A-01D-1434-08	1217839	32701366	210498007	21	12624											
MAP4K3	8491	broad.mit.edu	37	chr2	39517434	39517434	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaaataaatctgtctaccTttggtggcaaaggaggtgga	14	10	12	5	0	2	0	0	0	2	0	2	3	2	2	1	5	1	1	1	5	6	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:39517434T>A	ENST00000536018.1	-	0	666				MAP4K3_ENST00000437545.1_Splice_Site_p.K354_splice|MAP4K3_ENST00000341681.5_Splice_Site_p.K417_splice|MAP4K3_ENST00000263881.3_Splice_Site_p.K438_splice			Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3						JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TCTGTCTACCTTTGGTGGCAA	0.303													11	56					0	0	0	0	A	39517434	T	A	39517434	1	1	64	1	0	0	0	0	0	0	0	0	9330	1623	56	5		5	MAP4K3	2	39517434	Translation_Start_Site	SNP	T	TCGA-CN-4730-01A-01D-1434-08	6816068	39517434	203681939	22	12625											
SRBD1	55133	broad.mit.edu	37	chr2	45789838	45789838	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatccttcactccatcagAaatattgaccttaaccgtca	12	13	3	13	1	4	2	4	1	0	1	6	2	6	2	4	0	1	0	4	0	3	5			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:45789838A>T	ENST00000263736.4	-	10	1425	c.1363T>A	c.(1363-1365)Tct>Act	p.S455T	SRBD1_ENST00000535761.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	455					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ACTCCATCAGAAATATTGACC	0.338													31	130					0	0	0	0	T	45789838	A	T	45789838	3	4	64	1	0	0	0	0	1	0	0	0	15223	246	9	5	1672	5	SRBD1	2	45789838	Missense_Mutation	SNP	A	TCGA-CN-4730-01A-01D-1434-08	6272404	45789838	197409535	23	12626											
IL18RAP	8807	broad.mit.edu	37	chr2	103061677	103061677	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactttaaaggatgaaatcAttgagcgtaatatcatcttg	14	13	7	7	1	3	2	2	2	1	0	3	3	3	3	1	1	1	1	1	1	5	6			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:103061677A>G	ENST00000264260.2	+	9	1538	c.949A>G	c.(949-951)Att>Gtt	p.I317V	IL18RAP_ENST00000409369.1_Missense_Mutation_p.I175V	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	317	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGATGAAATCATTGAGCGTAA	0.398													30	40					0	0	0	0	G	103061677	A	G	103061677	3	3	64	1	0	0	0	0	1	0	0	0	7701	217	8	5	975	5	IL18RAP	2	103061677	Missense_Mutation	SNP	A	TCGA-CN-4730-01A-01D-1434-08	57271839	103061677	140137696	24	12627											
NCK2	8440	broad.mit.edu	37	chr2	106498068	106498068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtcttggaggaggtggacGaggcggctgcggagtcccca	7	6	18	10	4	1	0	0	0	1	0	2	5	2	4	2	7	1	1	2	7	0	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:106498068G>A	ENST00000233154.4	+	4	953	c.511G>A	c.(511-513)Gag>Aag	p.E171K	NCK2_ENST00000393349.2_Missense_Mutation_p.E171K|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	171					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GGAGGTGGACGAGGCGGCTGC	0.657													26	79					0	0	0	0	A	106498068	G	A	106498068	3	1	64	1	0	0	0	0	1	0	0	0	10290	1059	37	1	517	1	NCK2	2	106498068	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	3436391	106498068	136701305	25	12628											
IWS1	55677	broad.mit.edu	37	chr2	128253582	128253582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacccagctcacctcagcagCttcattcatcttgacgatca	10	10	6	15	1	6	1	5	1	1	0	6	3	6	1	2	0	3	3	2	0	0	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:128253582C>T	ENST00000295321.4	-	7	1967	c.1708G>A	c.(1708-1710)Gct>Act	p.A570T	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	570					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACCTCAGCAGCTTCATTCATC	0.468													122	173					0	0	0	0	T	128253582	C	T	128253582	3	4	64	1	0	0	0	0	1	0	0	0	7984	797	28	4	783	4	IWS1	2	128253582	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	21755514	128253582	114945791	26	12629											
SLC4A10	57282	broad.mit.edu	37	chr2	162820676	162820676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaagctcttctggatgcCggcaaaacatcaaccagatt	14	9	8	10	1	3	1	1	0	2	1	3	3	3	2	2	2	4	2	2	2	5	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:162820676C>T	ENST00000375514.5	+	22	3124	c.2837C>T	c.(2836-2838)cCg>cTg	p.P946L	SLC4A10_ENST00000272716.5_Missense_Mutation_p.P935L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.P935L|SLC4A10_ENST00000446997.1_Missense_Mutation_p.P965L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.P965L	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	965					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTCTGGATGCCGGCAAAACAT	0.368													8	26					0	0	0	0	T	162820676	C	T	162820676	3	4	64	1	0	0	0	0	1	0	0	0	14739	652	23	1	3065	1	SLC4A10	2	162820676	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	34567094	162820676	80378697	27	12630											
LRP2	4036	broad.mit.edu	37	chr2	169993958	169993958	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgagtacattgggttttCaaatattatgggctgcttcc	8	15	11	7	0	1	1	1	1	0	0	2	1	2	1	1	3	2	5	1	3	4	7			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:169993958C>G	ENST00000263816.3	-	76	13849	c.13564G>C	c.(13564-13566)Gaa>Caa	p.E4522Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4522					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATTGGGTTTTCAAATATTATG	0.453													37	106					0	0	0	0	G	169993958	C	G	169993958	3	3	64	1	0	0	0	0	1	0	0	0	9020	835	29	2	419	2	LRP2	2	169993958	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	7173282	169993958	73205415	28	12631											
LRP2	4036	broad.mit.edu	37	chr2	170103911	170103911	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggatgttgacatcatacGatttcaaatgcagtatgtaa	13	14	8	6	1	3	1	2	1	1	0	3	3	3	2	0	1	2	4	0	1	4	5			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:170103911G>T	ENST00000263816.3	-	20	3170	c.2885C>A	c.(2884-2886)tCg>tAg	p.S962*	LRP2_ENST00000443831.1_Nonsense_Mutation_p.S825*	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	962					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.S962*(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GACATCATACGATTTCAAATG	0.398													26	65					5.61819e-17	6.15204e-17	1	0	T	170103911	G	T	170103911	4	4	64	1	0	0	0	0	0	1	0	0	9020	1059	37	3	11322	3	LRP2	2	170103911	Nonsense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	109953	170103911	73095462	29	12632											
CHN1	1123	broad.mit.edu	37	chr2	175742727	175742727	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttggcaatgtattctgcTgccttggtttcaatatagag	9	16	9	7	0	3	1	1	0	2	1	3	1	3	1	1	2	2	4	1	2	5	7			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:175742727T>A	ENST00000409900.3	-	6	703	c.390A>T	c.(388-390)gcA>gcT	p.A130A	CHN1_ENST00000409156.3_Silent_p.A130A|CHN1_ENST00000488080.1_Intron	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	130	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TGTATTCTGCTGCCTTGGTTT	0.433			T	TAF15	extraskeletal myxoid chondrosarcoma								30	229					0	0	0	0	A	175742727	T	A	175742727	2	1	64	1	0	0	0	0	0	0	0	1	3391	1567	55	5		5	CHN1	2	175742727	Silent	SNP	T	TCGA-CN-4730-01A-01D-1434-08	5638816	175742727	67456646	30	12633											
HECW2	57520	broad.mit.edu	37	chr2	197171229	197171229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggttagaatgcagcaCggtgaagaactctgggctga	12	7	14	8	1	1	4	0	2	1	2	1	4	1	4	0	3	3	4	0	3	4	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:197171229C>T	ENST00000260983.2	-	13	2979	c.2797G>A	c.(2797-2799)Gtg>Atg	p.V933M	HECW2_ENST00000409111.1_Missense_Mutation_p.V577M	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	933	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAATGCAGCACGGTGAAGAAC	0.493													4	132					0	0	0	0	T	197171229	C	T	197171229	3	4	64	1	0	0	0	0	1	0	0	0	7093	536	19	1	1989	1	HECW2	2	197171229	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	21428502	197171229	46028144	31	12634											
CASP10	843	broad.mit.edu	37	chr2	202050586	202050586	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagcttctgattattgattCaaacctgggggtccaagatg	11	12	11	7	0	2	3	1	2	1	1	3	4	3	3	2	2	2	1	2	2	4	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:202050586C>G	ENST00000286186.6	+	2	521	c.86C>G	c.(85-87)tCa>tGa	p.S29*	CASP10_ENST00000346817.5_Nonsense_Mutation_p.S29*|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000374650.3_Nonsense_Mutation_p.S29*|CASP10_ENST00000360132.3_Nonsense_Mutation_p.S29*|CASP10_ENST00000313728.7_Nonsense_Mutation_p.S29*|CASP10_ENST00000448480.1_Nonsense_Mutation_p.S29*|CASP10_ENST00000272879.5_Nonsense_Mutation_p.S29*	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	29	DED 1.				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						ATTATTGATTCAAACCTGGGG	0.443													27	113					0	0	0	0	G	202050586	C	G	202050586	4	3	64	1	0	0	0	0	0	1	0	0	2694	838	29	2	88	2	CASP10	2	202050586	Nonsense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	4879357	202050586	41148787	32	12635											
CD28	940	broad.mit.edu	37	chr2	204594487	204594487	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtaacagtggcctttattAttttctgggtaagagaagca	12	14	10	5	0	1	1	0	0	1	1	1	2	1	1	1	2	2	3	1	2	6	8			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:204594487A>T	ENST00000374481.3	+	4	496	c.274A>T	c.(274-276)Att>Ttt	p.I92F	CD28_ENST00000324106.7_Missense_Mutation_p.I176F|CD28_ENST00000374478.4_Missense_Mutation_p.I57F|CD28_ENST00000458610.2_Missense_Mutation_p.I190F			P10747	CD28_HUMAN	CD28 molecule	176	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						GGCCTTTATTATTTTCTGGGT	0.433													126	176					0	0	0	0	T	204594487	A	T	204594487	3	4	64	1	0	0	0	0	1	0	0	0	3022	449	16	5	536	5	CD28	2	204594487	Missense_Mutation	SNP	A	TCGA-CN-4730-01A-01D-1434-08	2543901	204594487	38604886	33	12636											
SCN10A	6336	broad.mit.edu	37	chr3	38833599	38833599	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaaaggactgaatagccAcagggcccgagtggcactaa	13	6	13	9	1	0	2	0	2	0	0	0	4	0	3	2	3	1	2	2	3	4	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:38833599A>G	ENST00000449082.2	-	2	330	c.331T>C	c.(331-333)Tgg>Cgg	p.W111R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	111					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGAATAGCCACAGGGCCCGA	0.458													118	101					0	0	0	0	G	38833599	A	G	38833599	3	3	64	1	0	0	0	0	1	0	0	0	13999	159	6	5	5643	5	SCN10A	3	38833599	Missense_Mutation	SNP	A	TCGA-CN-4730-01A-01D-1434-08		38833599	159188831	34	12637											
NBEAL2	23218	broad.mit.edu	37	chr3	47037919	47037919	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggcttggctgggggtcCgggctggtggcccccctgca	3	7	18	13	1	0	0	0	0	0	0	1	0	1	0	4	7	1	4	4	7	0	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:47037919C>T	ENST00000450053.3	+	16	2489	c.2310C>T	c.(2308-2310)tcC>tcT	p.S770S	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.S770S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	770							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCTGGGGGTCCGGGCTGGTGG	0.716													6	11					0	0	0	0	T	47037919	C	T	47037919	2	4	64	1	0	0	0	0	0	0	0	1	10259	639	23	1		1	NBEAL2	3	47037919	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	8204320	47037919	150984511	35	12638											
TWF2	11344	broad.mit.edu	37	chr3	52269100	52269100	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagcccgtgccttggcaaaGaattccttcagctcttccgt	7	11	8	15	2	2	1	1	0	1	1	4	1	4	1	5	1	3	2	5	1	2	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:52269100G>C	ENST00000305533.5	-	2	291	c.48C>G	c.(46-48)ttC>ttG	p.F16L	TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.F16L	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTTGGCAAAGAATTCCTTCA	0.572													20	57					0	0	0	0	C	52269100	G	C	52269100	3	2	64	1	0	0	0	0	1	0	0	0	16878	933	33	2	1033	2	TWF2	3	52269100	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	5231181	52269100	145753330	36	12639											
KBTBD8	84541	broad.mit.edu	37	chr3	67054415	67054415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacatttacattgcaggaGggtacaggccaagcagcagt	13	8	12	8	0	0	1	0	1	0	0	0	2	0	2	1	3	5	4	1	3	3	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:67054415G>C	ENST00000295568.4	+	3	1077	c.946G>C	c.(946-948)Ggg>Cgg	p.G316R	KBTBD8_ENST00000417314.2_Missense_Mutation_p.G342R|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	342										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CATTGCAGGAGGGTACAGGCC	0.428													65	65					0	0	0	0	C	67054415	G	C	67054415	3	2	64	1	0	0	0	0	1	0	0	0	8052	1000	35	4	1034	4	KBTBD8	3	67054415	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	14785315	67054415	130968015	37	12640											
PHLDB2	90102	broad.mit.edu	37	chr3	111688638	111688638	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgacacctgttaccatgtAtcaatcacagagaagacctg	14	10	7	10	0	2	3	2	1	0	2	2	4	2	3	3	0	1	2	3	0	4	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:111688638A>G	ENST00000431670.2	+	16	3828	c.3417A>G	c.(3415-3417)gtA>gtG	p.V1139V	PHLDB2_ENST00000393923.3_Silent_p.V1123V|PHLDB2_ENST00000481953.1_Silent_p.V1096V|PHLDB2_ENST00000412622.1_Silent_p.V1096V|PHLDB2_ENST00000393925.3_Silent_p.V1139V|PHLDB2_ENST00000495180.1_Silent_p.V630V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1139						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GTTACCATGTATCAATCACAG	0.458													61	138					0	0	0	0	G	111688638	A	G	111688638	2	3	64	1	0	0	0	0	0	0	0	1	11924	436	16	5		5	PHLDB2	3	111688638	Silent	SNP	A	TCGA-CN-4730-01A-01D-1434-08	44634223	111688638	86333792	38	12641											
COX17	10063	broad.mit.edu	37	chr3	119396195	119396195	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctatgagcggagacagccaAatctatgccagcctcggcaa	12	6	11	12	2	1	2	0	1	1	1	2	3	1	2	3	2	4	2	3	2	4	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:119396195A>T	ENST00000261070.2	-	0	55				COX17_ENST00000497116.1_De_novo_Start_OutOfFrame	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone						copper ion transport|generation of precursor metabolites and energy	mitochondrial intermembrane space	copper chaperone activity			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		GAGACAGCCAAATCTATGCCA	0.567													4	16					0	0	0	0	T	119396195	A	T	119396195	1	4	64	1	0	0	0	0	0	0	0	0	3796	29	1	5		5	COX17	3	119396195	Translation_Start_Site	SNP	A	TCGA-CN-4730-01A-01D-1434-08	7707557	119396195	78626235	39	12642											
DHX36	170506	broad.mit.edu	37	chr3	154018467	154018467	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatcatttctataacatcTacagtacttgcagaatacct	13	14	3	11	0	3	1	1	0	2	1	4	1	4	1	2	0	5	2	2	0	6	7			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:154018467T>C	ENST00000496811.1	-	11	1457	c.1377A>G	c.(1375-1377)gtA>gtG	p.V459V	DHX36_ENST00000308361.6_Silent_p.V459V|DHX36_ENST00000329463.5_Silent_p.V459V|DHX36_ENST00000544526.1_Silent_p.V459V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	459						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTATAACATCTACAGTACTTG	0.303													42	94					0	0	0	0	C	154018467	T	C	154018467	2	2	64	1	0	0	0	0	0	0	0	1	4546	1509	53	5		5	DHX36	3	154018467	Silent	SNP	T	TCGA-CN-4730-01A-01D-1434-08	34622272	154018467	44003963	40	12643											
PRKCI	5584	broad.mit.edu	37	chr3	170002329	170002329	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagagatttgaaactggacaAtgtattactggactctgaag	14	12	10	5	0	1	3	0	2	1	1	1	6	1	5	0	2	2	1	0	2	6	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:170002329A>T	ENST00000295797.4	+	12	1453	c.1148A>T	c.(1147-1149)aAt>aTt	p.N383I		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	383	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAACTGGACAATGTATTACTG	0.328													43	122					0	0	0	0	T	170002329	A	T	170002329	3	4	64	1	0	0	0	0	1	0	0	0	12594	101	4	5	1194	5	PRKCI	3	170002329	Missense_Mutation	SNP	A	TCGA-CN-4730-01A-01D-1434-08	15983862	170002329	28020101	41	12644											
KLHL24	54800	broad.mit.edu	37	chr3	183368215	183368215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgattccccagcaactaagcGaaaagtttttgaaatggacc	14	10	8	9	1	0	2	0	2	0	0	1	4	1	3	3	1	3	2	3	1	5	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:183368215G>A	ENST00000454652.1	+	4	457	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	KLHL24_ENST00000242810.6_Missense_Mutation_p.R24Q|KLHL24_ENST00000476808.1_Missense_Mutation_p.R24Q			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	24						axon|cytoplasm|perikaryon		p.R24Q(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GCAACTAAGCGAAAAGTTTTT	0.398													52	116					0	0	0	0	A	183368215	G	A	183368215	3	1	64	1	0	0	0	0	1	0	0	0	8431	1058	37	1	73	1	KLHL24	3	183368215	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	13365886	183368215	14654215	42	12645											
RELL1	768211	broad.mit.edu	37	chr4	37633100	37633100	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctaacagacatcaggcttctCcgttccttctggtttgactt	7	15	7	12	1	3	2	1	1	2	1	5	2	4	2	2	2	1	3	2	2	1	6			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:37633100C>T	ENST00000454158.2	-	6	814	c.726G>A	c.(724-726)cgG>cgA	p.R242R	RELL1_ENST00000314117.4_Silent_p.R242R	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	242						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						TCAGGCTTCTCCGTTCCTTCT	0.502													32	42					0	0	0	0	T	37633100	C	T	37633100	2	4	64	1	0	0	0	0	0	0	0	1	13300	842	30	2		2	RELL1	4	37633100	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08		37633100	153521176	43	12646											
UGT2B4	7363	broad.mit.edu	37	chr4	70361310	70361310	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctcttaaccagctgcttGataatatcctcaaactcagt	12	13	4	12	0	3	1	2	1	1	0	5	1	4	1	2	0	4	2	2	0	4	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:70361310G>C	ENST00000305107.6	-	1	316	c.270C>G	c.(268-270)atC>atG	p.I90M	UGT2B4_ENST00000512583.1_Missense_Mutation_p.I90M|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	90					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CCAGCTGCTTGATAATATCCT	0.348													15	53					0	0	0	0	C	70361310	G	C	70361310	3	2	64	1	0	0	0	0	1	0	0	0	17057	1280	45	2	1340	2	UGT2B4	4	70361310	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	32728210	70361310	120792966	44	12647											
CXCL9	4283	broad.mit.edu	37	chr4	76927418	76927418	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagcgaccctttctcactActggggttcctgagggaaag	10	9	11	11	1	1	1	1	1	1	0	3	3	2	2	2	3	3	1	2	3	3	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:76927418A>G	ENST00000264888.5	-	2	112	c.74T>C	c.(73-75)gTa>gCa	p.V25A		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	25					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTTCTCACTACTGGGGTTCC	0.443													106	159					0	0	0	0	G	76927418	A	G	76927418	3	3	64	1	0	0	0	0	1	0	0	0	4121	391	14	5	315	5	CXCL9	4	76927418	Missense_Mutation	SNP	A	TCGA-CN-4730-01A-01D-1434-08	6566108	76927418	114226858	45	12648											
ENOPH1	58478	broad.mit.edu	37	chr4	83375957	83375957	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctattcctcagggagtgtgGaggcacagaaactgttattc	10	12	11	8	0	2	1	1	0	1	1	4	3	3	3	1	3	1	2	1	3	3	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:83375957G>C	ENST00000273920.3	+	4	740	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	ENOPH1_ENST00000509635.1_Missense_Mutation_p.E70Q	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	158					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						AGGGAGTGTGGAGGCACAGAA	0.448													50	173					0	0	0	0	C	83375957	G	C	83375957	3	2	64	1	0	0	0	0	1	0	0	0	5162	1175	41	2	486	2	ENOPH1	4	83375957	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	6448539	83375957	107778319	46	12649											
UNC5C	8633	broad.mit.edu	37	chr4	96091409	96091409	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggatagggagagggatgctGaaagcactgggccccgtgac	10	5	17	9	2	0	3	0	2	0	1	0	6	0	5	2	4	2	2	2	4	2	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:96091409G>A	ENST00000453304.1	-	15	2874	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	842					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGGATGCTGAAAGCACTGG	0.592													94	380					0	0	0	0	A	96091409	G	A	96091409	2	1	64	1	0	0	0	0	0	0	0	1	17089	1281	45	2		2	UNC5C	4	96091409	Silent	SNP	G	TCGA-CN-4730-01A-01D-1434-08	12715452	96091409	95062867	47	12650											
ALPK1	80216	broad.mit.edu	37	chr4	113352225	113352225	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atactgtgagtactactcaaGaaaagccacattgtcaaaga	17	9	7	8	0	2	3	2	1	0	2	2	3	2	3	1	0	4	1	1	0	7	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:113352225G>C	ENST00000458497.1	+	11	1801	c.1522G>C	c.(1522-1524)Gaa>Caa	p.E508Q	ALPK1_ENST00000504176.2_Missense_Mutation_p.E430Q|ALPK1_ENST00000177648.9_Missense_Mutation_p.E508Q	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	508							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TACTACTCAAGAAAAGCCACA	0.398													26	67					0	0	0	0	C	113352225	G	C	113352225	3	2	64	1	0	0	0	0	1	0	0	0	544	943	33	2	1556	2	ALPK1	4	113352225	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	17260816	113352225	77802051	48	12651											
NDST3	9348	broad.mit.edu	37	chr4	119059225	119059225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaggagcacggcattccaaCggacatgggctacgctgtgg	9	8	14	10	3	0	0	0	0	0	0	1	2	1	2	1	5	3	4	1	5	3	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:119059225C>T	ENST00000296499.5	+	5	1644	c.1241C>T	c.(1240-1242)aCg>aTg	p.T414M	NDST3_ENST00000433996.2_Missense_Mutation_p.T333M	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	414	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GGCATTCCAACGGACATGGGC	0.433													6	147					0	0	0	0	T	119059225	C	T	119059225	3	4	64	1	0	0	0	0	1	0	0	0	10327	536	19	1	1255	1	NDST3	4	119059225	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	5707000	119059225	72095051	49	12652											
PRSS48	345062	broad.mit.edu	37	chr4	152203446	152203446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtcgccttgttgaaactgtCctctcaagtcaccttcactt	7	14	6	14	2	3	1	3	1	1	0	6	1	4	1	3	0	1	1	3	0	2	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:152203446C>T	ENST00000455694.2	+	3	364	c.362C>T	c.(361-363)tCc>tTc	p.S121F	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	121	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TTGAAACTGTCCTCTCAAGTC	0.498													46	215					0	0	0	0	T	152203446	C	T	152203446	3	4	64	1	0	0	0	0	1	0	0	0	12709	855	30	2	372	2	PRSS48	4	152203446	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	33144221	152203446	38950830	50	12653											
FBXW7	55294	broad.mit.edu	37	chr4	153250883	153250883	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagaaccactaactattcGgttaccacaaaactgtaagc	16	9	5	11	1	1	1	1	0	0	1	2	1	1	1	2	1	5	2	2	1	7	5			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:153250883G>A	ENST00000281708.4	-	8	2406	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R275*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R313*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R393*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R217*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R393*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	393					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R393*(7)|p.R313*(1)|p.R154*(1)|p.?(1)|p.R275*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTAACTATTCGGTTACCACAA	0.343			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								90	45					0	0	0	0	A	153250883	G	A	153250883	4	1	64	1	0	0	0	0	0	1	0	0	5814	1124	39	1	966	1	FBXW7	4	153250883	Nonsense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	1047437	153250883	37903393	51	12654											
DNAH5	1767	broad.mit.edu	37	chr5	13841896	13841896	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaagatgcaatgaggactGagattcttccaaaagagaat	17	8	9	7	0	1	4	0	2	1	3	2	7	2	5	1	1	1	1	1	1	5	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:13841896G>C	ENST00000265104.4	-	33	5493	c.5389C>G	c.(5389-5391)Cag>Gag	p.Q1797E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1797	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATGAGGACTGAGATTCTTCC	0.438									Kartagener syndrome				30	143					0	0	0	0	C	13841896	G	C	13841896	3	2	64	1	0	0	0	0	1	0	0	0	4641	1299	45	2	8673	2	DNAH5	5	13841896	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08		13841896	167073364	52	12655											
RHOBTB3	22836	broad.mit.edu	37	chr5	95103849	95103849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaataagccgatgcttgccGatgttgtcttcgaaattcaa	11	14	8	8	3	2	0	1	0	1	0	3	3	2	0	2	0	3	2	2	0	4	6			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:95103849G>A	ENST00000379982.3	+	8	1769	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	RHOBTB3_ENST00000504179.1_Missense_Mutation_p.D52N|GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	421	BTB 2.|Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GATGCTTGCCGATGTTGTCTT	0.343													30	119					0	0	0	0	A	95103849	G	A	95103849	3	1	64	1	0	0	0	0	1	0	0	0	13418	1058	37	1	1291	1	RHOBTB3	5	95103849	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	81261953	95103849	85811411	53	12656											
CXXC5	51523	broad.mit.edu	37	chr5	139060915	139060915	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcggcatgtgcgcgccctgCcggcggcgcatcaactgcga	5	6	15	15	7	1	0	1	0	0	0	1	1	1	0	2	3	5	2	2	3	1	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:139060915C>T	ENST00000302517.3	+	2	1521	c.807C>T	c.(805-807)tgC>tgT	p.C269C	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Silent_p.C269C	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	269					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCCCTGCCGGCGGCGCA	0.572													4	115					0	0	0	0	T	139060915	C	T	139060915	2	4	64	1	0	0	0	0	0	0	0	1	4131	747	26	4		4	CXXC5	5	139060915	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	43957066	139060915	41854345	54	12657											
PCDHB5	26167	broad.mit.edu	37	chr5	140517292	140517292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtttgaccggagactcagGggccggcgagttcaagttcc	7	9	15	10	3	2	2	2	1	0	1	3	4	3	2	3	4	0	3	3	4	1	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:140517292G>T	ENST00000231134.5	+	1	2493	c.2276G>T	c.(2275-2277)gGg>gTg	p.G759V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		759					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGACTCAGGGGCCGGCGAG	0.582													9	242					9.70103e-10	1.03878e-09	1	0	T	140517292	G	T	140517292	3	4	64	1	0	0	0	0	1	0	0	0	11616	1232	43	4	2278	4	PCDHB5	5	140517292	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	1456377	140517292	40397968	55	12658											
RELL2	285613	broad.mit.edu	37	chr5	141019628	141019628	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggagggcagcccaaggcaggGatgcctgccatggagaggct	9	4	18	10	0	0	1	0	0	0	1	0	4	0	3	3	6	3	3	3	6	1	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:141019628G>C	ENST00000297164.3	+	5	1845	c.645G>C	c.(643-645)ggG>ggC	p.G215G	RELL2_ENST00000518856.1_Silent_p.G149G|FCHSD1_ENST00000523856.1_5'UTR|RELL2_ENST00000444782.1_Silent_p.G215G|RELL2_ENST00000521367.1_Silent_p.G149G|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000518025.1_3'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	215						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGGCAGGGATGCCTGCCA	0.677													12	30					0	0	0	0	C	141019628	G	C	141019628	2	2	64	1	0	0	0	0	0	0	0	1	13301	1161	41	2		2	RELL2	5	141019628	Silent	SNP	G	TCGA-CN-4730-01A-01D-1434-08	502336	141019628	39895632	56	12659											
NSD1	64324	broad.mit.edu	37	chr5	176637167	176637168	+	Frame_Shift_Del	DEL	TT	TT	-																															gagacttcaaatggtgactcTttattgggcttgcctgaggg																										TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:176637167_176637168delTT	ENST00000439151.2	+	5	1812_1813	c.1767_1768delTT	c.(1765-1770)tctafs	p.SL589fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.SL486fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.SL320fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.SL320fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	589					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGGTGACTCTTTATTGGGCTT	0.446			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			76	84	---	---	---	---					-	176637168	TT	-	176637167	7	5	64	1	0	1	0	1	0	0	0	0	10740	1596	56	0	1781	0	NSD1	5	176637167	Frame_Shift_Del	DEL	TT	TCGA-CN-4730-01A-01D-1434-08	35617539	176637167	4278093	57	12660											
DTNBP1	84062	broad.mit.edu	37	chr6	15523422	15523422	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttggaacctggagggtaatCtcattctgacaggtactgga	10	12	12	7	0	2	1	1	1	2	0	3	4	2	4	1	5	2	2	1	5	3	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:15523422C>G	ENST00000344537.5	-	10	1012	c.840G>C	c.(838-840)gaG>gaC	p.E280D	DTNBP1_ENST00000462989.2_Missense_Mutation_p.E124D|DTNBP1_ENST00000355917.3_Missense_Mutation_p.E281D	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	280	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GGAGGGTAATCTCATTCTGAC	0.498									Hermansky-Pudlak syndrome				54	167					0	0	0	0	G	15523422	C	G	15523422	3	3	64	1	0	0	0	0	1	0	0	0	4826	912	32	2	219	2	DTNBP1	6	15523422	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08		15523422	155591645	58	12661											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225622	26225622	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaatagctcaggacttcaaGaccgacctgcgcttccagag	12	7	10	12	2	2	2	2	0	0	2	3	5	3	3	3	1	2	2	3	1	3	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:26225622G>C	ENST00000360408.1	+	1	240	c.240G>C	c.(238-240)aaG>aaC	p.K80N		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	80					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				AGGACTTCAAGACCGACCTGC	0.597													29	84					0	0	0	0	C	26225622	G	C	26225622	3	2	64	1	0	0	0	0	1	0	0	0	7209	933	33	2	242	2	HIST1H3E	6	26225622	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	10702200	26225622	144889445	59	12662											
KIF6	221458	broad.mit.edu	37	chr6	39563898	39563898	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatggccccctactccagTctttgcaactcgctctgaac	9	10	7	15	1	2	2	0	1	2	1	4	2	3	2	3	1	4	2	3	1	4	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:39563898T>G	ENST00000287152.7	-	7	872	c.778A>C	c.(778-780)Act>Cct	p.T260P	KIF6_ENST00000373213.4_Missense_Mutation_p.T99P|KIF6_ENST00000538893.1_Missense_Mutation_p.T260P|KIF6_ENST00000373215.3_Missense_Mutation_p.T260P|KIF6_ENST00000373216.3_Missense_Mutation_p.T260P	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	260	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCTACTCCAGTCTTTGCAACT	0.448													4	105					0	0	0	0	G	39563898	T	G	39563898	3	3	64	1	0	0	0	0	1	0	0	0	8359	1667	58	5	1734	5	KIF6	6	39563898	Missense_Mutation	SNP	T	TCGA-CN-4730-01A-01D-1434-08	13338276	39563898	131551169	60	12663											
USP49	25862	broad.mit.edu	37	chr6	41773477	41773477	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgtgtggtgccctcagactcGagttcctgctgcaccttgtg	4	12	12	13	2	1	1	1	0	0	1	3	2	2	1	3	1	3	3	3	1	0	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:41773477G>C	ENST00000394253.3	-	3	1574	c.1245C>G	c.(1243-1245)ctC>ctG	p.L415L	USP49_ENST00000297229.2_Silent_p.L415L|USP49_ENST00000373010.1_Silent_p.L415L|USP49_ENST00000373009.3_Silent_p.L415L|USP49_ENST00000373006.1_Silent_p.L415L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	415					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTCAGACTCGAGTTCCTGCT	0.572													24	92					0	0	0	0	C	41773477	G	C	41773477	2	2	64	1	0	0	0	0	0	0	0	1	17176	1045	37	3		3	USP49	6	41773477	Silent	SNP	G	TCGA-CN-4730-01A-01D-1434-08	2209579	41773477	129341590	61	12664											
CUL9	23113	broad.mit.edu	37	chr6	43152613	43152613	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccgccggagtgcaggcaaaAtgctgcaggctctggcagcc	8	6	14	13	2	1	0	0	0	1	0	2	1	2	1	3	4	4	6	3	4	2	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:43152613A>G	ENST00000252050.4	+	2	649	c.565A>G	c.(565-567)Atg>Gtg	p.M189V	CUL9_ENST00000354495.3_Missense_Mutation_p.M189V|CUL9_ENST00000372647.2_Missense_Mutation_p.M189V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	189					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGCAGGCAAAATGCTGCAGGC	0.567													16	28					0	0	0	0	G	43152613	A	G	43152613	3	3	64	1	0	0	0	0	1	0	0	0	4093	101	4	5	567	5	CUL9	6	43152613	Missense_Mutation	SNP	A	TCGA-CN-4730-01A-01D-1434-08	1379136	43152613	127962454	62	12665											
RFPL4B	442247	broad.mit.edu	37	chr6	112671535	112671536	+	Frame_Shift_Ins	INS	-	-	T																															tcgccttcgccgtgtgggaaINSttttcctggatgctgactta																										TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:112671535_112671536insT	ENST00000441065.2	+	3	937_938	c.625_626insT	c.(625-627)tttfs	p.F209fs		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	209	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCGTGTGGGAATTTTCCTGGAT	0.465													30	116	---	---	---	---					T	112671536	-	T	112671535	7	5	64	1	0	1	1	0	0	0	0	0	13338	101	4	0	627	0	RFPL4B	6	112671535	Frame_Shift_Ins	INS	-	TCGA-CN-4730-01A-01D-1434-08	69518922	112671535	58443532	63	12666											
ECHDC1	55862	broad.mit.edu	37	chr6	127648182	127648182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatttcacagcattcagatCagatcctgaagagaaagtat	15	11	8	7	0	3	5	3	2	0	3	4	6	4	5	1	0	1	2	1	0	3	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:127648182C>T	ENST00000531967.1	-	3	849	c.346G>A	c.(346-348)Gat>Aat	p.D116N	ECHDC1_ENST00000430841.2_Missense_Mutation_p.D110N|ECHDC1_ENST00000309620.9_Missense_Mutation_p.D110N|ECHDC1_ENST00000368291.2_Missense_Mutation_p.D110N|ECHDC1_ENST00000368289.2_Missense_Mutation_p.D110N|ECHDC1_ENST00000474289.2_Missense_Mutation_p.D110N|ECHDC1_ENST00000528402.1_Missense_Mutation_p.D35N|ECHDC1_ENST00000454591.2_Missense_Mutation_p.D35N|ECHDC1_ENST00000454859.3_Missense_Mutation_p.D110N	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	116							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		GCATTCAGATCAGATCCTGAA	0.378													23	138					0	0	0	0	T	127648182	C	T	127648182	3	4	64	1	0	0	0	0	1	0	0	0	4929	826	29	2	593	2	ECHDC1	6	127648182	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	14976647	127648182	43466885	64	12667											
RAET1L	154064	broad.mit.edu	37	chr6	150342164	150342164	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgtcattctcccacttttCtttcatctttctggctccag	4	19	4	14	0	6	0	2	0	4	0	8	0	7	0	2	1	0	1	2	1	0	6			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:150342164C>G	ENST00000367341.1	-	3	507	c.508G>C	c.(508-510)Gaa>Caa	p.E170Q	RAET1L_ENST00000286380.2_Missense_Mutation_p.E170Q			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	170	MHC class I alpha-2 like (By similarity).				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		TCCCACTTTTCTTTCATCTTT	0.473													64	202					0	0	0	0	G	150342164	C	G	150342164	3	3	64	1	0	0	0	0	1	0	0	0	13083	922	32	2	239	2	RAET1L	6	150342164	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	22693982	150342164	20772903	65	12668											
WDR27	253769	broad.mit.edu	37	chr6	170060767	170060767	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagatcttacccttgtaaTacaaagcagcttccacttcc	13	11	4	13	0	1	1	0	0	1	1	3	1	3	1	3	0	4	3	3	0	5	6			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:170060767T>C	ENST00000333572.6	-	10	1640	c.1121A>G	c.(1120-1122)tAt>tGt	p.Y374C	WDR27_ENST00000448612.1_Missense_Mutation_p.Y374C|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.Y247C			A2RRH5	WDR27_HUMAN	WD repeat domain 27	344										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ACCCTTGTAATACAAAGCAGC	0.443													16	49					0	0	0	0	C	170060767	T	C	170060767	3	2	64	1	0	0	0	0	1	0	0	0	17380	1406	49	5	1516	5	WDR27	6	170060767	Missense_Mutation	SNP	T	TCGA-CN-4730-01A-01D-1434-08	19718603	170060767	1054300	66	12669											
HOXA2	3199	broad.mit.edu	37	chr7	27140524	27140524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctgcaaagaggggacctCaagggcctcaggactgtcat	10	7	13	11	0	3	1	3	0	0	1	4	3	4	3	3	4	1	1	3	4	2	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:27140524C>T	ENST00000222718.5	-	2	1262	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	318						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GAGGGGACCTCAAGGGCCTCA	0.522													81	129					0	0	0	0	T	27140524	C	T	27140524	3	4	64	1	0	0	0	0	1	0	0	0	7342	835	29	2	182	2	HOXA2	7	27140524	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08		27140524	131998139	67	12670											
POM121L12	285877	broad.mit.edu	37	chr7	53104019	53104019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccggccctctgccttcaagCccctgagcaaaaatggagcg	9	6	10	16	2	2	1	1	1	1	0	2	2	2	2	5	2	4	1	5	2	3	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:53104019C>T	ENST00000408890.4	+	1	671	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	219										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCCTTCAAGCCCCTGAGCAA	0.632													12	171					0	0	0	0	T	53104019	C	T	53104019	3	4	64	1	0	0	0	0	1	0	0	0	12313	739	26	4	657	4	POM121L12	7	53104019	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	25963495	53104019	106034644	68	12671											
ZNF804B	219578	broad.mit.edu	37	chr7	88962919	88962919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggtactgcaaacatcttCagatctcagcaatgcaaatc	14	10	6	11	0	4	1	3	0	2	1	6	1	4	1	0	1	5	4	0	1	4	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:88962919C>T	ENST00000333190.4	+	4	1232	c.623C>T	c.(622-624)tCa>tTa	p.S208L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	208						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAACATCTTCAGATCTCAGC	0.388										HNSCC(36;0.09)			26	83					0	0	0	0	T	88962919	C	T	88962919	3	4	64	1	0	0	0	0	1	0	0	0	18264	838	29	2	637	2	ZNF804B	7	88962919	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	35858900	88962919	70175744	69	12672											
COG5	10466	broad.mit.edu	37	chr7	106877029	106877029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagacaaaatccaagcattCaaagtgtttaaaatagtcac	20	9	5	7	0	2	1	2	0	0	1	3	1	3	1	1	0	1	2	1	0	8	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:106877029C>G	ENST00000393603.2	-	18	2321	c.2050G>C	c.(2050-2052)Gaa>Caa	p.E684Q	COG5_ENST00000297135.3_Missense_Mutation_p.E684Q|COG5_ENST00000347053.3_Missense_Mutation_p.E663Q	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	663					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCCAAGCATTCAAAGTGTTTA	0.413													26	75					0	0	0	0	G	106877029	C	G	106877029	3	3	64	1	0	0	0	0	1	0	0	0	3691	835	29	2	556	2	COG5	7	106877029	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	17914110	106877029	52261634	70	12673											
SLC26A3	1811	broad.mit.edu	37	chr7	107408040	107408040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacctcatatacccgattaCgtaatcctccatttgtattt	10	17	3	11	2	1	0	1	0	0	0	3	1	3	0	4	0	3	2	4	0	6	8			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:107408040C>T	ENST00000340010.5	-	20	2439	c.2255G>A	c.(2254-2256)cGt>cAt	p.R752H	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R639H	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	752					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TACCCGATTACGTAATCCTCC	0.343													18	29					0	0	0	0	T	107408040	C	T	107408040	3	4	64	1	0	0	0	0	1	0	0	0	14606	536	19	1	47	1	SLC26A3	7	107408040	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	531011	107408040	51730623	71	12674											
PIP	5304	broad.mit.edu	37	chr7	142832288	142832288	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctcttcccacaatcagtCggaagatcataataaagaat	15	11	5	10	1	4	2	2	0	2	2	7	3	5	3	1	1	0	0	1	1	6	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:142832288C>T	ENST00000291009.3	+	2	137	c.95_splice	c.e2-1	p.R33_splice		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	33						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CACAATCAGTCGGAAGATCAT	0.463													7	23					0	0	0	0	T	142832288	C	T	142832288	5	4	64	1	0	0	0	0	0	0	1	0	12007	898	31	1	103	1	PIP	7	142832288	Splice_Site	SNP	C	TCGA-CN-4730-01A-01D-1434-08	35424248	142832288	16306375	72	12675											
SLC4A2	6522	broad.mit.edu	37	chr7	150767612	150767612	+	Silent	SNP	G	G	T																															tccaagcacgagctgaaactGctggagaagattcctgagaa																										TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:150767612G>T	ENST00000485713.1	+	11	2558	c.1518G>T	c.(1516-1518)ctG>ctT	p.L506L	SLC4A2_ENST00000392826.2_Silent_p.L497L|SLC4A2_ENST00000461735.1_Silent_p.L492L|SLC4A2_ENST00000413384.2_Silent_p.L506L|SLC4A2_ENST00000310317.5_Silent_p.L424L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	506					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			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)		AGCTGAAACTGCTGGAGAAGA	0.632													8	15					2.17888e-05	2.30257e-05	1	0	T	150767612	G	T	150767612	2	4	64	1	0	0	0	0	0	0	0	1	14742	1306	46	4		4	SLC4A2	7	150767612	Silent	SNP	G	TCGA-CN-4730-01A-01D-1434-08	7935324	150767612	8371051	73	12676	109	2									
SLC4A2	6522	broad.mit.edu	37	chr7	150767613	150767613	+	Silent	SNP	C	C	T																															ccaagcacgagctgaaactgCtggagaagattcctgagaat																										TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:150767613C>T	ENST00000485713.1	+	11	2559	c.1519C>T	c.(1519-1521)Ctg>Ttg	p.L507L	SLC4A2_ENST00000392826.2_Silent_p.L498L|SLC4A2_ENST00000461735.1_Silent_p.L493L|SLC4A2_ENST00000413384.2_Silent_p.L507L|SLC4A2_ENST00000310317.5_Silent_p.L425L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	507					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			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)		GCTGAAACTGCTGGAGAAGAT	0.632													8	14					0	0	0	0	T	150767613	C	T	150767613	2	4	64	1	0	0	0	0	0	0	0	1	14742	796	28	4		4	SLC4A2	7	150767613	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	1	150767613	8371050	74	12677	109	2									
ESYT2	57488	broad.mit.edu	37	chr7	158529772	158529772	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggatttaatgttttctttGacacgtgtgttttcctcctt	5	21	7	8	1	1	1	0	1	1	0	3	2	3	2	2	1	0	2	2	1	1	8			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:158529772G>C	ENST00000251527.5	-	19	2512	c.2447C>G	c.(2446-2448)tCa>tGa	p.S816*	ESYT2_ENST00000435514.2_Nonsense_Mutation_p.S251*	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	844	C2 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGTTTTCTTTGACACGTGTGT	0.448													31	137					0	0	0	0	C	158529772	G	C	158529772	4	2	64	1	0	0	0	0	0	1	0	0	5303	1294	45	2	250	2	ESYT2	7	158529772	Nonsense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	7762159	158529772	608891	75	12678											
ADAM32	203102	broad.mit.edu	37	chr8	39089584	39089584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctgctatgaagaaataCaatctcaatcagacagattt	15	12	6	8	0	2	4	2	1	1	3	3	4	2	4	1	0	3	1	1	0	6	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:39089584C>A	ENST00000379907.4	+	15	1691	c.1564C>A	c.(1564-1566)Caa>Aaa	p.Q522K	ADAM32_ENST00000519315.1_Missense_Mutation_p.Q416K|ADAM32_ENST00000437682.2_Missense_Mutation_p.Q423K	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	522					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGAAGAAATACAATCTCAATC	0.323													5	124					0.184627	0.186945	1	0	A	39089584	C	A	39089584	3	1	64	1	0	0	0	0	1	0	0	0	249	479	17	4	1622	4	ADAM32	8	39089584	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08		39089584	107274438	76	12679											
ANK1	286	broad.mit.edu	37	chr8	41519012	41519012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccttttcaggctggccCgcttcactatctgcgccccc	3	11	7	20	2	3	0	2	0	1	0	4	0	4	0	5	2	1	2	5	2	1	4	rs139762174	byFrequency	TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:41519012C>T	ENST00000396942.1	-	42	5773	c.5690G>A	c.(5689-5691)cGg>cAg	p.R1897Q	ANK1_ENST00000522231.1_Intron|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000522543.1_Intron|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000289734.7_Missense_Mutation_p.R1872Q|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000314214.8_Missense_Mutation_p.R147Q|ANK1_ENST00000379758.2_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000352337.4_Missense_Mutation_p.R1850Q			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R147L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAGGCTGGCCCGCTTCACTAT	0.622													19	134					0	0	0	0	T	41519012	C	T	41519012	3	4	64	1	0	0	0	0	1	0	0	0	620	652	23	1	62	1	ANK1	8	41519012	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	2429428	41519012	104845010	77	12680											
XKR4	114786	broad.mit.edu	37	chr8	56015393	56015393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtgggactgcctctggatCctggccgccgtggccgtgta	3	10	15	13	3	1	0	0	0	1	0	2	2	2	2	5	4	1	1	5	4	1	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:56015393C>T	ENST00000327381.5	+	1	445	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	115						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCCTCTGGATCCTGGCCGCCG	0.746													42	48					0	0	0	0	T	56015393	C	T	56015393	2	4	64	1	0	0	0	0	0	0	0	1	17529	845	30	2		2	XKR4	8	56015393	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	14496381	56015393	90348629	78	12681											
PENK	5179	broad.mit.edu	37	chr8	57354258	57354258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaggatctcacttccattgGcctcttcttctggctccatg	5	14	8	14	1	4	0	1	0	4	0	7	2	6	1	3	3	0	1	3	3	0	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:57354258G>T	ENST00000314922.3	-	2	453	c.377C>A	c.(376-378)gCc>gAc	p.A126D	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.A126D	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	126					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			ACTTCCATTGGCCTCTTCTTC	0.502													53	205					4.17328e-34	4.65408e-34	1	0	T	57354258	G	T	57354258	3	4	64	1	0	0	0	0	1	0	0	0	11798	1203	42	4	430	4	PENK	8	57354258	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	1338865	57354258	89009764	79	12682											
BHLHE22	27319	broad.mit.edu	37	chr8	65494156	65494156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagctgcgcgcggtgatccCctacgcgcacagcccctcgg	5	5	13	18	7	0	1	0	1	0	0	2	2	1	1	4	2	4	2	4	2	1	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:65494156C>T	ENST00000321870.1	+	1	1343	c.809C>T	c.(808-810)cCc>cTc	p.P270L	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	270	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GCGGTGATCCCCTACGCGCAC	0.637													5	14					0	0	0	0	T	65494156	C	T	65494156	3	4	64	1	0	0	0	0	1	0	0	0	1426	623	22	4	811	4	BHLHE22	8	65494156	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	8139898	65494156	80869866	80	12683											
DNAJC5B	85479	broad.mit.edu	37	chr8	66989019	66989019	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagaagcatatacgacAagtacggatcgctgggactc	15	6	11	9	3	0	1	0	0	0	1	2	5	0	3	0	2	3	3	0	2	6	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:66989019A>C	ENST00000276570.5	+	4	531	c.244A>C	c.(244-246)Aag>Cag	p.K82Q	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	82	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CATATACGACAAGTACGGATC	0.463													72	112					0	0	0	0	C	66989019	A	C	66989019	3	2	64	1	0	0	0	0	1	0	0	0	4687	131	5	5	250	5	DNAJC5B	8	66989019	Missense_Mutation	SNP	A	TCGA-CN-4730-01A-01D-1434-08	1494863	66989019	79375003	81	12684											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885612	88885612	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtactgaaagagtgataCgcgtggatgctcagggacca	11	8	13	9	2	1	3	1	2	0	1	1	5	1	5	2	2	3	2	2	2	3	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:88885612C>T	ENST00000319675.3	-	1	684	c.588G>A	c.(586-588)gcG>gcA	p.A196A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	196										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAGAGTGATACGCGTGGATGC	0.557													51	167					0	0	0	0	T	88885612	C	T	88885612	2	4	64	1	0	0	0	0	0	0	0	1	4305	523	19	1		1	DCAF4L2	8	88885612	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	21896593	88885612	57478410	82	12685											
KIAA1429	25962	broad.mit.edu	37	chr8	95547138	95547138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggaggtggtggtggtggaGagtctctgtcatgacttatc	6	13	17	5	0	2	2	1	1	1	1	4	4	2	3	0	6	0	0	0	6	1	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:95547138G>A	ENST00000297591.5	-	5	488	c.413C>T	c.(412-414)tCt>tTt	p.S138F	KIAA1429_ENST00000437199.1_Missense_Mutation_p.S138F|KIAA1429_ENST00000421249.2_Missense_Mutation_p.S138F	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	138					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			tggtggtggAGAGTCTCTGTC	0.458													22	70					0	0	0	0	A	95547138	G	A	95547138	3	1	64	1	0	0	0	0	1	0	0	0	8282	942	33	2	5159	2	KIAA1429	8	95547138	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	6661526	95547138	50816884	83	12686											
VPS13B	157680	broad.mit.edu	37	chr8	100115242	100115242	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacattgtgataaataatctCatactaaaatatgttgaaga	19	13	5	4	0	1	3	1	2	1	1	2	3	1	3	0	0	2	1	0	0	9	7			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:100115242C>G	ENST00000395996.1	+	5	585	c.474C>G	c.(472-474)ctC>ctG	p.L158L	VPS13B_ENST00000357162.2_Silent_p.L158L|VPS13B_ENST00000355155.1_Silent_p.L158L|VPS13B_ENST00000358544.2_Silent_p.L158L|VPS13B_ENST00000441350.2_Silent_p.L158L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	158					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAAATAATCTCATACTAAAAT	0.308													30	135					0	0	0	0	G	100115242	C	G	100115242	2	3	64	1	0	0	0	0	0	0	0	1	17286	813	29	2		2	VPS13B	8	100115242	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	4568104	100115242	46248780	84	12687											
RGS22	26166	broad.mit.edu	37	chr8	101020653	101020653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctttgtccatggctcaaGaaggaggagaaggatatatt	13	11	11	6	0	2	2	1	0	1	2	3	5	3	4	1	4	0	1	1	4	5	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:101020653G>A	ENST00000360863.6	-	15	2505	c.2311C>T	c.(2311-2313)Ctt>Ttt	p.L771F	RGS22_ENST00000523287.1_Missense_Mutation_p.L590F|RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.L759F	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	771	Poly-Leu.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CATGGCTCAAGAAGGAGGAGA	0.378													35	168					0	0	0	0	A	101020653	G	A	101020653	3	1	64	1	0	0	0	0	1	0	0	0	13388	942	33	2	1535	2	RGS22	8	101020653	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	905411	101020653	45343369	85	12688											
PLEC	5339	broad.mit.edu	37	chr8	144990620	144990620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagccgcagccccgtgccctCctccaccatgctgcggtcca	5	6	9	21	3	0	0	0	0	0	0	3	0	3	0	8	1	5	2	8	1	0	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144990620C>T	ENST00000322810.4	-	32	13949	c.13780G>A	c.(13780-13782)Gag>Aag	p.E4594K	PLEC_ENST00000436759.2_Missense_Mutation_p.E4484K|PLEC_ENST00000354958.2_Missense_Mutation_p.E4435K|PLEC_ENST00000398774.2_Missense_Mutation_p.E4425K|PLEC_ENST00000354589.3_Missense_Mutation_p.E4457K|PLEC_ENST00000356346.3_Missense_Mutation_p.E4443K|PLEC_ENST00000527096.1_Missense_Mutation_p.E4480K|PLEC_ENST00000345136.3_Missense_Mutation_p.E4457K|PLEC_ENST00000357649.2_Missense_Mutation_p.E4461K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4594	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCGTGCCCTCCTCCACCATG	0.657													49	193					0	0	0	0	T	144990620	C	T	144990620	3	4	64	1	0	0	0	0	1	0	0	0	12124	864	30	2	278	2	PLEC	8	144990620	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	43969967	144990620	1373402	86	12689			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144993305	144993305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcaaatgcccttcttgtctCctcctcagtgtacacctgcg	6	14	6	15	1	4	0	2	0	2	0	6	0	5	0	4	0	3	1	4	0	2	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993305C>T	ENST00000322810.4	-	32	11264	c.11095G>A	c.(11095-11097)Gag>Aag	p.E3699K	PLEC_ENST00000436759.2_Missense_Mutation_p.E3589K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3540K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3530K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3562K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3548K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3585K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3562K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3566K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3699	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTTCTTGTCTCCTCCTCAGTG	0.637													50	235					0	0	0	0	T	144993305	C	T	144993305	3	4	64	1	0	0	0	0	1	0	0	0	12124	864	30	2	2963	2	PLEC	8	144993305	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	2685	144993305	1370717	87	12690			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144993498	144993498	+	Silent	SNP	C	C	T																															tccgccaggacgcggttcatCtcctcactgaagtagccgcg																										TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993498C>T	ENST00000322810.4	-	32	11071	c.10902G>A	c.(10900-10902)gaG>gaA	p.E3634E	PLEC_ENST00000436759.2_Silent_p.E3524E|PLEC_ENST00000354958.2_Silent_p.E3475E|PLEC_ENST00000398774.2_Silent_p.E3465E|PLEC_ENST00000354589.3_Silent_p.E3497E|PLEC_ENST00000356346.3_Silent_p.E3483E|PLEC_ENST00000527096.1_Silent_p.E3520E|PLEC_ENST00000345136.3_Silent_p.E3497E|PLEC_ENST00000357649.2_Silent_p.E3501E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3634	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCGGTTCATCTCCTCACTGA	0.657													37	144					0	0	0	0	T	144993498	C	T	144993498	2	4	64	1	0	0	0	0	0	0	0	1	12124	912	32	2		2	PLEC	8	144993498	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	193	144993498	1370524	88	12691	110	2	1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144993503	144993503	+	Missense_Mutation	SNP	C	C	T																															caggacgcggttcatctcctCactgaagtagccgcgctggt																										TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993503C>T	ENST00000322810.4	-	32	11066	c.10897G>A	c.(10897-10899)Gag>Aag	p.E3633K	PLEC_ENST00000436759.2_Missense_Mutation_p.E3523K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3474K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3464K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3496K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3482K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3519K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3496K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3500K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3633	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTCATCTCCTCACTGAAGTAG	0.662													31	138					0	0	0	0	T	144993503	C	T	144993503	3	4	64	1	0	0	0	0	1	0	0	0	12124	835	29	2	3161	2	PLEC	8	144993503	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	5	144993503	1370519	89	12692	110	2	1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144993992	144993992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgaccgtcgtcttgccgtCcttgagctgctcaaactggg	5	12	11	13	3	2	2	1	2	1	0	4	2	3	2	3	1	4	2	3	1	1	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993992C>T	ENST00000322810.4	-	32	10577	c.10408G>A	c.(10408-10410)Gac>Aac	p.D3470N	PLEC_ENST00000436759.2_Missense_Mutation_p.D3360N|PLEC_ENST00000354958.2_Missense_Mutation_p.D3311N|PLEC_ENST00000398774.2_Missense_Mutation_p.D3301N|PLEC_ENST00000354589.3_Missense_Mutation_p.D3333N|PLEC_ENST00000356346.3_Missense_Mutation_p.D3319N|PLEC_ENST00000527096.1_Missense_Mutation_p.D3356N|PLEC_ENST00000345136.3_Missense_Mutation_p.D3333N|PLEC_ENST00000357649.2_Missense_Mutation_p.D3337N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3470	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCTTGCCGTCCTTGAGCTGC	0.667													31	103					0	0	0	0	T	144993992	C	T	144993992	3	4	64	1	0	0	0	0	1	0	0	0	12124	855	30	2	3650	2	PLEC	8	144993992	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	489	144993992	1370030	90	12693			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144994286	144994286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacctcaaccggggtcttttCaaaggtctcacgggcctgca	8	9	11	13	2	4	0	3	0	2	0	5	1	4	0	3	4	2	1	3	4	2	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144994286C>G	ENST00000322810.4	-	32	10283	c.10114G>C	c.(10114-10116)Gaa>Caa	p.E3372Q	PLEC_ENST00000436759.2_Missense_Mutation_p.E3262Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E3213Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E3203Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3235Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3221Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3258Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3235Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3239Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3372	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGGTCTTTTCAAAGGTCTCA	0.642													24	102					0	0	0	0	G	144994286	C	G	144994286	3	3	64	1	0	0	0	0	1	0	0	0	12124	835	29	2	3944	2	PLEC	8	144994286	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	294	144994286	1369736	91	12694			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144994712	144994712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcggctgatagcagcttctCatgaaactcggggcccacca	9	8	10	14	2	1	2	1	2	1	0	4	2	1	2	2	3	3	3	2	3	2	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144994712C>T	ENST00000322810.4	-	32	9857	c.9688G>A	c.(9688-9690)Gag>Aag	p.E3230K	PLEC_ENST00000436759.2_Missense_Mutation_p.E3120K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3071K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3061K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3093K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3079K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3116K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3093K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3097K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3230	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCAGCTTCTCATGAAACTCG	0.662													15	57					0	0	0	0	T	144994712	C	T	144994712	3	4	64	1	0	0	0	0	1	0	0	0	12124	835	29	2	4370	2	PLEC	8	144994712	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	426	144994712	1369310	92	12695			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144995096	144995096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccggcccttctgctcctgctCctccaccaccgtgatgatga	5	10	8	18	2	1	3	0	3	1	0	4	3	4	3	7	1	2	2	7	1	0	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144995096C>T	ENST00000322810.4	-	32	9473	c.9304G>A	c.(9304-9306)Gag>Aag	p.E3102K	PLEC_ENST00000436759.2_Missense_Mutation_p.E2992K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2943K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2933K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2965K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2951K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2988K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2965K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2969K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3102	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCTCCTGCTCCTCCACCACC	0.637													18	49					0	0	0	0	T	144995096	C	T	144995096	3	4	64	1	0	0	0	0	1	0	0	0	12124	864	30	2	4754	2	PLEC	8	144995096	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	384	144995096	1368926	93	12696			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144995838	144995838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgggactcagcagctgcctCtgcagggcggcgtaaacact	8	6	13	14	3	2	0	1	0	1	0	2	1	2	1	2	3	5	4	2	3	2	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144995838C>T	ENST00000322810.4	-	32	8731	c.8562G>A	c.(8560-8562)caG>caA	p.Q2854Q	PLEC_ENST00000436759.2_Silent_p.Q2744Q|PLEC_ENST00000354958.2_Silent_p.Q2695Q|PLEC_ENST00000398774.2_Silent_p.Q2685Q|PLEC_ENST00000354589.3_Silent_p.Q2717Q|PLEC_ENST00000356346.3_Silent_p.Q2703Q|PLEC_ENST00000527096.1_Silent_p.Q2740Q|PLEC_ENST00000345136.3_Silent_p.Q2717Q|PLEC_ENST00000357649.2_Silent_p.Q2721Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2854	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAGCTGCCTCTGCAGGGCGG	0.672													21	42					0	0	0	0	T	144995838	C	T	144995838	2	4	64	1	0	0	0	0	0	0	0	1	12124	912	32	2		2	PLEC	8	144995838	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	742	144995838	1368184	94	12697			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144996072	144996073	+	Frame_Shift_Ins	INS	-	-	T																															agctgtgctccggctctgccINStctgccgcggggccatcaag																										TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144996072_144996073insT	ENST00000322810.4	-	32	8496_8497	c.8327_8328insA	c.(8326-8328)ggcfs	p.G2776fs	PLEC_ENST00000357649.2_Frame_Shift_Ins_p.G2643fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.G2617fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.G2666fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.G2662fs|PLEC_ENST00000398774.2_Frame_Shift_Ins_p.G2607fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.G2639fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.G2639fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.G2625fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2776	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGGCTCTGCCTCTGCCGCGGG	0.688													9	35	---	---	---	---					T	144996073	-	T	144996072	7	5	64	1	0	1	1	0	0	0	0	0	12124	680	24	0	5730	0	PLEC	8	144996072	Frame_Shift_Ins	INS	-	TCGA-CN-4730-01A-01D-1434-08	234	144996072	1367950	95	12698			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144997355	144997355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtgcgcggttctcagcctCgatgcgtgccttgagcttgc	4	11	14	12	4	1	1	1	1	1	0	3	3	1	1	2	1	6	2	2	1	0	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997355C>T	ENST00000322810.4	-	31	7322	c.7153G>A	c.(7153-7155)Gag>Aag	p.E2385K	PLEC_ENST00000436759.2_Missense_Mutation_p.E2275K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2226K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2216K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2248K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2234K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2271K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2248K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2252K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2385	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E2385Q(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTCTCAGCCTCGATGCGTGCC	0.647													10	48					0	0	0	0	T	144997355	C	T	144997355	3	4	64	1	0	0	0	0	1	0	0	0	12124	893	31	1	6909	1	PLEC	8	144997355	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	1283	144997355	1366667	96	12699			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144997461	144997461	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctccgtggcctccgccttCagccgctgcagctcctcgtc	2	9	10	20	4	1	0	1	0	0	0	6	0	4	0	7	1	3	3	7	1	0	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997461C>T	ENST00000322810.4	-	31	7216	c.7047G>A	c.(7045-7047)ctG>ctA	p.L2349L	PLEC_ENST00000436759.2_Silent_p.L2239L|PLEC_ENST00000354958.2_Silent_p.L2190L|PLEC_ENST00000398774.2_Silent_p.L2180L|PLEC_ENST00000354589.3_Silent_p.L2212L|PLEC_ENST00000356346.3_Silent_p.L2198L|PLEC_ENST00000527096.1_Silent_p.L2235L|PLEC_ENST00000345136.3_Silent_p.L2212L|PLEC_ENST00000357649.2_Silent_p.L2216L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2349	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCGCCTTCAGCCGCTGCA	0.667													8	17					0	0	0	0	T	144997461	C	T	144997461	2	4	64	1	0	0	0	0	0	0	0	1	12124	813	29	2		2	PLEC	8	144997461	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	106	144997461	1366561	97	12700			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144997511	144997511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctggtggtcggtctcctCcagctgcagccgcagtgttg	3	12	13	13	2	2	0	0	0	2	0	5	0	3	0	3	3	3	4	3	3	0	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997511C>T	ENST00000322810.4	-	31	7166	c.6997G>A	c.(6997-6999)Gag>Aag	p.E2333K	PLEC_ENST00000436759.2_Missense_Mutation_p.E2223K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2174K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2164K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2196K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2182K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2219K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2196K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2200K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2333	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGGTCTCCTCCAGCTGCAGC	0.652													7	22					0	0	0	0	T	144997511	C	T	144997511	3	4	64	1	0	0	0	0	1	0	0	0	12124	864	30	2	7065	2	PLEC	8	144997511	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	50	144997511	1366511	98	12701			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144997545	144997545	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgttgtcagctcctgctcCacctgcgccttctgccgcag	4	11	10	16	2	2	0	1	0	1	0	4	0	4	0	5	0	4	4	5	0	0	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997545C>T	ENST00000322810.4	-	31	7132	c.6963G>A	c.(6961-6963)gtG>gtA	p.V2321V	PLEC_ENST00000436759.2_Silent_p.V2211V|PLEC_ENST00000354958.2_Silent_p.V2162V|PLEC_ENST00000398774.2_Silent_p.V2152V|PLEC_ENST00000354589.3_Silent_p.V2184V|PLEC_ENST00000356346.3_Silent_p.V2170V|PLEC_ENST00000527096.1_Silent_p.V2207V|PLEC_ENST00000345136.3_Silent_p.V2184V|PLEC_ENST00000357649.2_Silent_p.V2188V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2321	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCCTGCTCCACCTGCGCCT	0.657													5	27					0	0	0	0	T	144997545	C	T	144997545	2	4	64	1	0	0	0	0	0	0	0	1	12124	581	21	4		4	PLEC	8	144997545	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	34	144997545	1366477	99	12702			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144997569	144997569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcgccttctgccgcagcgtCtgctcggcgaatttcttatg	4	13	11	13	5	3	0	0	0	3	0	4	1	3	0	2	1	4	2	2	1	2	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997569C>T	ENST00000322810.4	-	31	7108	c.6939G>A	c.(6937-6939)caG>caA	p.Q2313Q	PLEC_ENST00000436759.2_Silent_p.Q2203Q|PLEC_ENST00000354958.2_Silent_p.Q2154Q|PLEC_ENST00000398774.2_Silent_p.Q2144Q|PLEC_ENST00000354589.3_Silent_p.Q2176Q|PLEC_ENST00000356346.3_Silent_p.Q2162Q|PLEC_ENST00000527096.1_Silent_p.Q2199Q|PLEC_ENST00000345136.3_Silent_p.Q2176Q|PLEC_ENST00000357649.2_Silent_p.Q2180Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2313	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCGCAGCGTCTGCTCGGCGA	0.662													5	35					0	0	0	0	T	144997569	C	T	144997569	2	4	64	1	0	0	0	0	0	0	0	1	12124	912	32	2		2	PLEC	8	144997569	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	24	144997569	1366453	100	12703			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144997754	144997754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccgactgcttcagccgctCggcctcttccacctgccgcc	3	9	9	20	4	2	0	1	0	1	0	4	1	3	0	7	1	4	2	7	1	0	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997754C>T	ENST00000322810.4	-	31	6923	c.6754G>A	c.(6754-6756)Gag>Aag	p.E2252K	PLEC_ENST00000436759.2_Missense_Mutation_p.E2142K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2093K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2083K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2115K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2101K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2138K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2115K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2119K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2252	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTCAGCCGCTCGGCCTCTTCC	0.761													6	14					0	0	0	0	T	144997754	C	T	144997754	3	4	64	1	0	0	0	0	1	0	0	0	12124	893	31	1	7308	1	PLEC	8	144997754	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	185	144997754	1366268	101	12704			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144998138	144998138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcttctgcacgcgctcctCagcctcacggcgccgccgct	3	8	10	20	6	4	0	2	0	2	0	5	0	5	0	4	1	2	4	4	1	0	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998138C>T	ENST00000322810.4	-	31	6539	c.6370G>A	c.(6370-6372)Gag>Aag	p.E2124K	PLEC_ENST00000436759.2_Missense_Mutation_p.E2014K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1965K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1955K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1987K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1973K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2010K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1987K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1991K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2124	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGCGCTCCTCAGCCTCACGG	0.726													3	11					0	0	0	0	T	144998138	C	T	144998138	3	4	64	1	0	0	0	0	1	0	0	0	12124	835	29	2	7692	2	PLEC	8	144998138	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	384	144998138	1365884	102	12705			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144998210	144998210	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcctccagctcggcctgctCcttgctgcgcagcgtgtcct	3	10	11	17	3	0	0	0	0	0	0	4	0	3	0	5	1	6	4	5	1	0	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998210C>G	ENST00000322810.4	-	31	6467	c.6298G>C	c.(6298-6300)Gag>Cag	p.E2100Q	PLEC_ENST00000436759.2_Missense_Mutation_p.E1990Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1941Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E1931Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1963Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1949Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E1986Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1963Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E1967Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2100	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGGCCTGCTCCTTGCTGCGC	0.726													5	17					0	0	0	0	G	144998210	C	G	144998210	3	3	64	1	0	0	0	0	1	0	0	0	12124	864	30	2	7764	2	PLEC	8	144998210	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	72	144998210	1365812	103	12706			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144998264	144998264	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgcgtcccagctccagctCcagctccgccttgccagcgg	5	7	11	18	3	0	0	0	0	0	0	4	1	4	0	6	1	6	3	6	1	0	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998264C>G	ENST00000322810.4	-	31	6413	c.6244G>C	c.(6244-6246)Gag>Cag	p.E2082Q	PLEC_ENST00000436759.2_Missense_Mutation_p.E1972Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1923Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E1913Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1945Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1931Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E1968Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1945Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E1949Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2082	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCTCCAGCTCCAGCTCCGCC	0.711													3	27					0	0	0	0	G	144998264	C	G	144998264	3	3	64	1	0	0	0	0	1	0	0	0	12124	864	30	2	7818	2	PLEC	8	144998264	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	54	144998264	1365758	104	12707			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144998319	144998319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcgccttcagcgccaggatCtcctcctccacctgccgccg	4	8	8	21	4	2	0	1	0	1	0	6	1	4	1	8	1	2	0	8	1	0	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998319C>G	ENST00000322810.4	-	31	6358	c.6189G>C	c.(6187-6189)gaG>gaC	p.E2063D	PLEC_ENST00000436759.2_Missense_Mutation_p.E1953D|PLEC_ENST00000354958.2_Missense_Mutation_p.E1904D|PLEC_ENST00000398774.2_Missense_Mutation_p.E1894D|PLEC_ENST00000354589.3_Missense_Mutation_p.E1926D|PLEC_ENST00000356346.3_Missense_Mutation_p.E1912D|PLEC_ENST00000527096.1_Missense_Mutation_p.E1949D|PLEC_ENST00000345136.3_Missense_Mutation_p.E1926D|PLEC_ENST00000357649.2_Missense_Mutation_p.E1930D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2063	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCCAGGATCTCCTCCTCCA	0.701													4	34					0	0	0	0	G	144998319	C	G	144998319	3	3	64	1	0	0	0	0	1	0	0	0	12124	912	32	2	7873	2	PLEC	8	144998319	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	55	144998319	1365703	105	12708			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144998346	144998346	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacctgccgccgctgcctCagcgtgtcctccaccagccc	4	7	8	22	3	1	0	1	0	0	0	4	0	4	0	9	0	4	1	9	0	0	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998346C>G	ENST00000322810.4	-	31	6331	c.6162G>C	c.(6160-6162)ctG>ctC	p.L2054L	PLEC_ENST00000436759.2_Silent_p.L1944L|PLEC_ENST00000354958.2_Silent_p.L1895L|PLEC_ENST00000398774.2_Silent_p.L1885L|PLEC_ENST00000354589.3_Silent_p.L1917L|PLEC_ENST00000356346.3_Silent_p.L1903L|PLEC_ENST00000527096.1_Silent_p.L1940L|PLEC_ENST00000345136.3_Silent_p.L1917L|PLEC_ENST00000357649.2_Silent_p.L1921L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2054	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCGCTGCCTCAGCGTGTCCT	0.692													5	23					0	0	0	0	G	144998346	C	G	144998346	2	3	64	1	0	0	0	0	0	0	0	1	12124	813	29	2		2	PLEC	8	144998346	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	27	144998346	1365676	106	12709			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144998529	144998529	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctccgcctccttctccttGagcgcgatctccgcctccgt	2	13	7	19	5	3	1	0	1	3	0	8	2	5	1	7	0	1	0	7	0	0	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998529G>A	ENST00000322810.4	-	31	6148	c.5979C>T	c.(5977-5979)ctC>ctT	p.L1993L	PLEC_ENST00000436759.2_Silent_p.L1883L|PLEC_ENST00000354958.2_Silent_p.L1834L|PLEC_ENST00000398774.2_Silent_p.L1824L|PLEC_ENST00000354589.3_Silent_p.L1856L|PLEC_ENST00000356346.3_Silent_p.L1842L|PLEC_ENST00000527096.1_Silent_p.L1879L|PLEC_ENST00000345136.3_Silent_p.L1856L|PLEC_ENST00000357649.2_Silent_p.L1860L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1993	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTCTCCTTGAGCGCGATCT	0.741													10	19					0	0	0	0	A	144998529	G	A	144998529	2	1	64	1	0	0	0	0	0	0	0	1	12124	1277	45	2		2	PLEC	8	144998529	Silent	SNP	G	TCGA-CN-4730-01A-01D-1434-08	183	144998529	1365493	107	12710			1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144999083	144999083	+	Missense_Mutation	SNP	C	C	T																															cttgccgcgccgccgcgcctCgcgctccgcctcctccttct																										TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144999083C>T	ENST00000322810.4	-	31	5594	c.5425G>A	c.(5425-5427)Gag>Aag	p.E1809K	PLEC_ENST00000436759.2_Missense_Mutation_p.E1699K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1650K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1640K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1672K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1658K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1695K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1672K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1676K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1809	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCCGCGCCTCGCGCTCCGCC	0.726													9	14					0	0	0	0	T	144999083	C	T	144999083	3	4	64	1	0	0	0	0	1	0	0	0	12124	893	31	1	8637	1	PLEC	8	144999083	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	554	144999083	1364939	108	12711	111	2	1	20		24	22	8470	N	G_C_-	9.996383e-48
PLEC	5339	broad.mit.edu	37	chr8	144999089	144999089	+	Missense_Mutation	SNP	C	C	G																															gcgccgccgcgcctcgcgctCcgcctcctccttctgcttct																										TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144999089C>G	ENST00000322810.4	-	31	5588	c.5419G>C	c.(5419-5421)Gag>Cag	p.E1807Q	PLEC_ENST00000436759.2_Missense_Mutation_p.E1697Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1648Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E1638Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1670Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1656Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E1693Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1670Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E1674Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1807	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTCGCGCTCCGCCTCCTCC	0.721													7	13					0	0	0	0	G	144999089	C	G	144999089	3	3	64	1	0	0	0	0	1	0	0	0	12124	864	30	2	8643	2	PLEC	8	144999089	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	6	144999089	1364933	109	12712	111	2	1	20		24	22	8470	N	G_C_-	9.996383e-48
CNTLN	54875	broad.mit.edu	37	chr9	17409412	17409412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatccaacagaagacagcCaaacacaaggaaaagaaata	22	3	8	8	0	0	4	0	1	0	3	1	5	1	5	2	1	3	0	2	1	8	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:17409412C>A	ENST00000380647.3	+	16	2821	c.2737C>A	c.(2737-2739)Caa>Aaa	p.Q913K	CNTLN_ENST00000262360.5_Missense_Mutation_p.Q913K|CNTLN_ENST00000425824.1_Missense_Mutation_p.Q913K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	913						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGAAGACAGCCAAACACAAGG	0.343													39	146					2.05212e-20	2.25733e-20	1	0	A	17409412	C	A	17409412	3	1	64	1	0	0	0	0	1	0	0	0	3669	595	21	4	2829	4	CNTLN	9	17409412	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08		17409412	123804019	110	12713											
MLLT3	4300	broad.mit.edu	37	chr9	20346501	20346501	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggactgtggttttgtccagCgagcaaagatcaaaatcaaa	14	9	10	8	2	2	1	2	0	0	1	3	3	3	2	1	2	2	2	1	2	4	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:20346501C>A	ENST00000380338.4	-	11	1933	c.1647G>T	c.(1645-1647)tcG>tcT	p.S549S	MLLT3_ENST00000429426.2_Silent_p.S546S|MLLT3_ENST00000355930.6_Silent_p.S119S|MLLT3_ENST00000380321.1_Silent_p.S143S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTTTGTCCAGCGAGCAAAGAT	0.388			T	MLL	ALL								3	84					0.004672	0.00483173	1	0	A	20346501	C	A	20346501	2	1	64	1	0	0	0	0	0	0	0	1	9697	755	27	3		3	MLLT3	9	20346501	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	2937089	20346501	120866930	111	12714											
PTPDC1	138639	broad.mit.edu	37	chr9	96860086	96860086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagcagattttgacaatcGaggcatgattttctccaatg	11	12	10	8	1	1	3	0	2	1	1	3	4	1	3	1	2	1	3	1	2	2	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:96860086G>A	ENST00000375360.3	+	7	1416	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R411Q	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	359							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTTGACAATCGAGGCATGATT	0.502													21	110					0	0	0	0	A	96860086	G	A	96860086	3	1	64	1	0	0	0	0	1	0	0	0	12853	1058	37	1	1340	1	PTPDC1	9	96860086	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	76513585	96860086	44353345	112	12715											
ODF2	4957	broad.mit.edu	37	chr9	131260723	131260723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgaccagtgcccagaatatcGagttcctacaggtgattgcc	10	9	10	12	2	0	2	0	1	0	1	2	4	1	2	4	1	3	1	4	1	3	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:131260723G>C	ENST00000303890.5	+	21	2557	c.1972G>C	c.(1972-1974)Gag>Cag	p.E658Q	ODF2_ENST00000444119.2_Missense_Mutation_p.E658Q|ODF2_ENST00000434106.2_Missense_Mutation_p.E682Q|ODF2_ENST00000372796.4_Missense_Mutation_p.E682Q|ODF2_ENST00000351030.3_Missense_Mutation_p.E677Q|ODF2_ENST00000372807.5_Missense_Mutation_p.E677Q	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	682					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CCAGAATATCGAGTTCCTACA	0.577													5	17					0	0	0	0	C	131260723	G	C	131260723	3	2	64	1	0	0	0	0	1	0	0	0	10898	1059	37	3	2232	3	ODF2	9	131260723	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	34400637	131260723	9952708	113	12716			2	21		3	3	624	G		6.828168e-06
ODF2	4957	broad.mit.edu	37	chr9	131260797	131260797	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggctggaggagaaaacacgGgaatgtgggaccctggcaag	12	4	17	8	2	0	1	0	0	0	1	0	5	0	4	1	6	1	2	1	6	4	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:131260797G>A	ENST00000303890.5	+	21	2631	c.2046G>A	c.(2044-2046)cgG>cgA	p.R682R	ODF2_ENST00000444119.2_Silent_p.R682R|ODF2_ENST00000434106.2_Silent_p.R706R|ODF2_ENST00000372796.4_Silent_p.R706R|ODF2_ENST00000351030.3_Silent_p.R701R|ODF2_ENST00000372807.5_Silent_p.R701R	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	706					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGAAAACACGGGAATGTGGGA	0.567													4	16					0	0	0	0	A	131260797	G	A	131260797	2	1	64	1	0	0	0	0	0	0	0	1	10898	1219	43	4		4	ODF2	9	131260797	Silent	SNP	G	TCGA-CN-4730-01A-01D-1434-08	74	131260797	9952634	114	12717			2	21		3	3	624	G		6.828168e-06
ODF2	4957	broad.mit.edu	37	chr9	131261346	131261346	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaacaaaatcctggaccttGagacccagctgagcagaacc	15	5	9	12	0	0	4	0	2	0	3	1	6	1	5	4	1	4	2	4	1	4	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:131261346G>C	ENST00000303890.5	+	22	2755	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	ODF2_ENST00000444119.2_Missense_Mutation_p.E724Q|ODF2_ENST00000434106.2_Missense_Mutation_p.E748Q|ODF2_ENST00000372796.4_Missense_Mutation_p.E748Q|ODF2_ENST00000351030.3_Missense_Mutation_p.E743Q|ODF2_ENST00000372807.5_Missense_Mutation_p.E743Q	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	748					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CCTGGACCTTGAGACCCAGCT	0.577													39	134					0	0	0	0	C	131261346	G	C	131261346	3	2	64	1	0	0	0	0	1	0	0	0	10898	1291	45	2	2434	2	ODF2	9	131261346	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	549	131261346	9952085	115	12718			2	21		3	3	624	G		6.828168e-06
ITGA8	8516	broad.mit.edu	37	chr10	15559213	15559213	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtcggtcatgtcctcctGaggaggtctggctctgtcaa	5	12	12	12	1	4	1	2	1	2	0	7	2	6	2	3	4	0	1	3	4	1	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:15559213G>A	ENST00000378076.3	-	30	3489	c.3136C>T	c.(3136-3138)Cag>Tag	p.Q1046*		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	1046					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATGTCCTCCTGAGGAGGTCTG	0.453													11	66					0	0	0	0	A	15559213	G	A	15559213	4	1	64	1	0	0	0	0	0	1	0	0	7935	1299	45	2	59	2	ITGA8	10	15559213	Nonsense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08		15559213	119975534	116	12719											
SVIL	6840	broad.mit.edu	37	chr10	29762869	29762869	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagaagtagacgcacttCtctttgccggctgccctcac	9	9	9	14	2	2	3	1	0	1	3	3	3	2	3	2	1	2	3	2	1	3	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:29762869C>G	ENST00000375398.2	-	32	5876	c.5427G>C	c.(5425-5427)gaG>gaC	p.E1809D	SVIL_ENST00000375400.3_Missense_Mutation_p.E1383D|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.E1809D|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.E723D|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000460007.1_5'UTR			O95425	SVIL_HUMAN	supervillin	1809					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGACGCACTTCTCTTTGCCGG	0.627													15	50					0	0	0	0	G	29762869	C	G	29762869	3	3	64	1	0	0	0	0	1	0	0	0	15511	912	32	2	1253	2	SVIL	10	29762869	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	14203656	29762869	105771878	117	12720											
MAP3K8	1326	broad.mit.edu	37	chr10	30749693	30749693	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaagaggcaacgctctctCtacatcgacctcggcgctct	8	9	8	16	4	4	1	1	0	3	1	7	2	4	1	1	2	2	3	1	2	3	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:30749693C>T	ENST00000263056.1	+	9	2028	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	MAP3K8_ENST00000375321.1_Silent_p.L444L|MAP3K8_ENST00000542547.1_Silent_p.L444L	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	444			Missing (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AACGCTCTCTCTACATCGACC	0.463													73	110					0	0	0	0	T	30749693	C	T	30749693	2	4	64	1	0	0	0	0	0	0	0	1	9325	900	32	2		2	MAP3K8	10	30749693	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	986824	30749693	104785054	118	12721											
SORCS3	22986	broad.mit.edu	37	chr10	107022174	107022174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagccaaagtgaaaacGcccccaaaatcacactcagt	16	5	7	13	1	2	2	2	2	0	0	2	2	2	2	3	0	2	0	3	0	5	0	rs140421862		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:107022174G>A	ENST00000369701.3	+	26	3756	c.3529G>A	c.(3529-3531)Gcc>Acc	p.A1177T		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1177						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAGTGAAAACGCCCCCAAAAT	0.507													51	64					0	0	0	0	A	107022174	G	A	107022174	3	1	64	1	0	0	0	0	1	0	0	0	15020	1087	38	1	3631	1	SORCS3	10	107022174	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	76272481	107022174	28512573	119	12722											
SORCS1	114815	broad.mit.edu	37	chr10	108337272	108337272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcggagagatgagtcaccaGgttgagtagaaggggaggga	13	6	18	4	1	1	4	1	2	0	2	2	8	1	7	1	5	0	2	1	5	2	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:108337272G>A	ENST00000263054.6	-	26	3420	c.3413C>T	c.(3412-3414)cCt>cTt	p.P1138L	SORCS1_ENST00000369698.1_3'UTR|SORCS1_ENST00000344440.6_Intron	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1138						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGAGTCACCAGGTTGAGTAGA	0.493													5	179					0	0	0	0	A	108337272	G	A	108337272	3	1	64	1	0	0	0	0	1	0	0	0	15018	1000	35	4	166	4	SORCS1	10	108337272	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	1315098	108337272	27197475	120	12723											
EBF3	253738	broad.mit.edu	37	chr10	131640456	131640456	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgacgcccatcatgccCgtgtgtgcagggttgttgcc	5	11	14	11	2	1	1	1	1	0	0	1	2	1	1	3	1	3	4	3	1	0	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:131640456C>T	ENST00000368648.3	-	13	1341	c.1269G>A	c.(1267-1269)acG>acA	p.T423T	EBF3_ENST00000355311.5_Silent_p.T432T	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	432					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.T432T(1)|p.T423T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCATCATGCCCGTGTGTGCAG	0.602													98	167					0	0	0	0	T	131640456	C	T	131640456	2	4	64	1	0	0	0	0	0	0	0	1	4918	639	23	1		1	EBF3	10	131640456	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	23303184	131640456	3894291	121	12724											
DPYSL4	10570	broad.mit.edu	37	chr10	134004265	134004265	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgatagagtgaccgccttctGatcagaggtgggaggatcgt	9	9	15	8	3	2	4	1	2	1	2	3	7	2	6	2	3	0	0	2	3	1	2	rs137897999		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:134004265G>A	ENST00000338492.4	+	2	218	c.54G>A	c.(52-54)ctG>ctA	p.L18L	DPYSL4_ENST00000368629.1_5'UTR|DPYSL4_ENST00000493882.1_3'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	18					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ACCGCCTTCTGATCAGAGGTG	0.438													18	84					0	0	0	0	A	134004265	G	A	134004265	2	1	64	1	0	0	0	0	0	0	0	1	4785	1277	45	2		2	DPYSL4	10	134004265	Silent	SNP	G	TCGA-CN-4730-01A-01D-1434-08	2363809	134004265	1530482	122	12725											
OR52E4	390081	broad.mit.edu	37	chr11	5905675	5905675	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaccattctctttgtgatCaaaactgaacatagtctaca	14	13	5	9	0	3	3	1	3	2	0	4	3	3	3	1	0	3	0	1	0	5	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:5905675C>G	ENST00000316987.2	+	1	175	c.153C>G	c.(151-153)atC>atG	p.I51M		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTTGTGATCAAAACTGAAC	0.428													82	290					0	0	0	0	G	5905675	C	G	5905675	3	3	64	1	0	0	0	0	1	0	0	0	11187	816	29	2	155	2	OR52E4	11	5905675	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08		5905675	129100841	123	12726											
SMPD1	6609	broad.mit.edu	37	chr11	6414465	6414465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaattggggggttctatgctCtttccccataccccggtctc	5	13	10	13	1	3	0	0	0	3	0	5	1	4	0	4	4	2	2	4	4	3	5			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:6414465C>G	ENST00000342245.4	+	3	1279	c.1111C>G	c.(1111-1113)Ctt>Gtt	p.L371V	SMPD1_ENST00000356761.2_Intron|SMPD1_ENST00000527275.1_Missense_Mutation_p.L370V|SMPD1_ENST00000299397.3_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	369			P -> S (in NPDB).		cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GTTCTATGCTCTTTCCCCATA	0.493													10	58					0	0	0	0	G	6414465	C	G	6414465	3	3	64	1	0	0	0	0	1	0	0	0	14892	913	32	2	1161	2	SMPD1	11	6414465	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	508790	6414465	128592051	124	12727											
PTPMT1	114971	broad.mit.edu	37	chr11	47593175	47593175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggacttttgtcatttcaaaGacatgatgtatggggattag	11	14	12	4	0	2	2	2	1	0	1	2	4	2	4	0	3	0	1	0	3	3	5			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:47593175G>C	ENST00000326656.8	+	3	432	c.408G>C	c.(406-408)aaG>aaC	p.K136N	NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000326674.9_Missense_Mutation_p.K200N|PTPMT1_ENST00000426530.2_3'UTR|PTPMT1_ENST00000534775.1_3'UTR			Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	200	Tyrosine-protein phosphatase.				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K200N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						TCATTTCAAAGACATGATGTA	0.453													31	184					0	0	0	0	C	47593175	G	C	47593175	3	2	64	1	0	0	0	0	1	0	0	0	12858	933	33	2	719	2	PTPMT1	11	47593175	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	41178710	47593175	87413341	125	12728											
OR4A47	403253	broad.mit.edu	37	chr11	48510955	48510955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccaatggaggactggCttgcactattgtgtttctgc	6	13	14	8	0	1	0	0	0	1	0	1	2	1	2	1	5	2	3	1	5	2	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:48510955C>A	ENST00000446524.1	+	1	687	c.611C>A	c.(610-612)gCt>gAt	p.A204D		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGAGGACTGGCTTGCACTATT	0.443													121	126					5.67207e-43	6.41421e-43	1	0	A	48510955	C	A	48510955	3	1	64	1	0	0	0	0	1	0	0	0	11113	797	28	4	613	4	OR4A47	11	48510955	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	917780	48510955	86495561	126	12729											
OR8I2	120586	broad.mit.edu	37	chr11	55861087	55861087	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggctgctttgttcaaatgTacttttttgttggattggtg	5	21	11	4	0	1	0	1	0	0	0	1	1	1	1	0	3	2	5	0	3	2	9			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:55861087T>C	ENST00000302124.2	+	1	335	c.304T>C	c.(304-306)Tac>Cac	p.Y102H	OR8I2_ENST00000560768.1_Missense_Mutation_p.Y102H			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGTTCAAATGTACTTTTTTGT	0.398													122	146					0	0	0	0	C	55861087	T	C	55861087	3	2	64	1	0	0	0	0	1	0	0	0	11311	1638	57	5	306	5	OR8I2	11	55861087	Missense_Mutation	SNP	T	TCGA-CN-4730-01A-01D-1434-08	7350132	55861087	79145429	127	12730											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57069409	57069409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaagatggcacccgagatgCccgtggctctgcaaaggccc	9	6	13	13	2	1	3	0	1	1	2	1	4	1	3	3	3	2	3	3	3	2	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:57069409C>T	ENST00000532437.1	-	8	5154	c.4843G>A	c.(4843-4845)Gca>Aca	p.A1615T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1615T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1615	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ACCCGAGATGCCCGTGGCTCT	0.587													4	106					0	0	0	0	T	57069409	C	T	57069409	3	4	64	1	0	0	0	0	1	0	0	0	16414	739	26	4	358	4	TNKS1BP1	11	57069409	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	1208322	57069409	77937107	128	12731											
MS4A1	931	broad.mit.edu	37	chr11	60234505	60234505	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcatcgttgagaatgaatGgaaaagaacgtgctccagac	14	8	12	7	2	0	4	0	2	0	3	2	6	1	5	1	2	2	3	1	2	5	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:60234505G>A	ENST00000534668.1	+	6	936	c.647G>A	c.(646-648)tGg>tAg	p.W216*	MS4A1_ENST00000389939.2_Nonsense_Mutation_p.W216*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.W203*|MS4A1_ENST00000528313.1_Nonsense_Mutation_p.W49*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.W216*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	216					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GAGAATGAATGGAAAAGAACG	0.433													4	151					0	0	0	0	A	60234505	G	A	60234505	4	1	64	1	0	0	0	0	0	1	0	0	9924	1357	47	4	665	4	MS4A1	11	60234505	Nonsense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	3165096	60234505	74772011	129	12732											
MTA2	9219	broad.mit.edu	37	chr11	62361854	62361854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagaggccttccattggcaGagaaaggaacccctgcccct	10	6	10	15	0	0	2	0	0	0	2	1	4	1	3	7	3	2	1	7	3	2	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:62361854G>C	ENST00000278823.2	-	17	2107	c.1718C>G	c.(1717-1719)tCt>tGt	p.S573C	MTA2_ENST00000527204.1_Missense_Mutation_p.S400C|MTA2_ENST00000524902.1_Missense_Mutation_p.S400C	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	573					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCCATTGGCAGAGAAAGGAAC	0.557													21	71					0	0	0	0	C	62361854	G	C	62361854	3	2	64	1	0	0	0	0	1	0	0	0	9979	942	33	2	296	2	MTA2	11	62361854	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	2127349	62361854	72644662	130	12733											
MTA2	9219	broad.mit.edu	37	chr11	62362037	62362037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccccagtccccggttctggGacagctggtttctgttgatc	4	12	11	14	1	2	1	0	1	2	0	4	2	3	2	4	3	1	4	4	3	0	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:62362037G>A	ENST00000278823.2	-	16	2032	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	MTA2_ENST00000527204.1_Missense_Mutation_p.S375F|MTA2_ENST00000524902.1_Missense_Mutation_p.S375F	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	548					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CCGGTTCTGGGACAGCTGGTT	0.527													30	124					0	0	0	0	A	62362037	G	A	62362037	3	1	64	1	0	0	0	0	1	0	0	0	9979	1174	41	2	375	2	MTA2	11	62362037	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	183	62362037	72644479	131	12734											
PYGM	5837	broad.mit.edu	37	chr11	64519902	64519902	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttggccacatcccgaatGaaagcttcatcatccacaaa	14	9	5	13	1	2	1	2	1	0	0	4	2	4	1	3	1	1	1	3	1	3	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:64519902G>A	ENST00000164139.3	-	13	1991	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	PYGM_ENST00000377432.3_Silent_p.F443F	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	531					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CATCCCGAATGAAAGCTTCAT	0.577													14	83					0	0	0	0	A	64519902	G	A	64519902	2	1	64	1	0	0	0	0	0	0	0	1	12944	1281	45	2		2	PYGM	11	64519902	Silent	SNP	G	TCGA-CN-4730-01A-01D-1434-08	2157865	64519902	70486614	132	12735											
AIP	9049	broad.mit.edu	37	chr11	67257514	67257514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccatgccctgcaggtggaGagccctggcacgtaccagca	8	5	12	16	1	0	1	0	0	0	1	0	2	0	1	5	3	5	4	5	3	1	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:67257514G>C	ENST00000279146.3	+	4	592	c.474G>C	c.(472-474)gaG>gaC	p.E158D	AIP_ENST00000525341.1_3'UTR	NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	158					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						TGCAGGTGGAGAGCCCTGGCA	0.647									Familial Isolated Pituitary Adenoma				8	4					0	0	0	0	C	67257514	G	C	67257514	3	2	64	1	0	0	0	0	1	0	0	0	435	933	33	2	488	2	AIP	11	67257514	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	2737612	67257514	67749002	133	12736											
FOLR4	390243	broad.mit.edu	37	chr11	94038883	94038883	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgagctgctcaacatctgCatgaatgccaaacaccacaa	15	6	7	13	1	2	1	1	1	1	0	2	3	2	1	2	0	6	3	2	0	4	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:94038883C>T	ENST00000440961.2	+	1	125	c.81C>T	c.(79-81)tgC>tgT	p.C27C		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	27						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TCAACATCTGCATGAATGCCA	0.587													63	65					0	0	0	0	T	94038883	C	T	94038883	2	4	64	1	0	0	0	0	0	0	0	1	6029	718	25	4		4	FOLR4	11	94038883	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	26781369	94038883	40967633	134	12737											
VPS11	55823	broad.mit.edu	37	chr11	118949887	118949887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccacactctccgtcatcaGggactacctggtccaaaaac	12	7	7	15	1	3	0	2	0	1	0	5	1	4	1	4	2	3	0	4	2	3	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:118949887G>A	ENST00000300793.6	+	15	2354	c.2312G>A	c.(2311-2313)aGg>aAg	p.R771K	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	772					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TCCGTCATCAGGGACTACCTG	0.572													8	34					0	0	0	0	A	118949887	G	A	118949887	3	1	64	1	0	0	0	0	1	0	0	0	17284	1000	35	4	2368	4	VPS11	11	118949887	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	24911004	118949887	16056629	135	12738											
KCNA1	3736	broad.mit.edu	37	chr12	5021957	5021957	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagcccattatagacaggtCaatatcagaactgccaattg	15	10	7	9	0	2	2	2	0	0	2	2	2	2	2	2	1	3	0	2	1	7	5			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:5021957C>G	ENST00000382545.3	+	2	2520	c.1413C>G	c.(1411-1413)gtC>gtG	p.V471V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	471					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATAGACAGGTCAATATCAGAA	0.413													40	231					0	0	0	0	G	5021957	C	G	5021957	2	3	64	1	0	0	0	0	0	0	0	1	8054	813	29	2		2	KCNA1	12	5021957	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08		5021957	128829938	136	12739											
ZNF384	171017	broad.mit.edu	37	chr12	6787551	6787551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagacaatcatgggagccGaaatggggaaggtctgagct	12	7	15	7	1	2	2	1	2	1	1	2	6	2	4	1	4	2	1	1	4	3	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:6787551G>A	ENST00000396795.1	-	5	925	c.428C>T	c.(427-429)tCg>tTg	p.S143L	ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000396799.2_Missense_Mutation_p.S143L|ZNF384_ENST00000361959.3_Missense_Mutation_p.S143L|ZNF384_ENST00000396801.3_Missense_Mutation_p.S143L|ZNF384_ENST00000319770.3_Missense_Mutation_p.S127L			Q8TF68	ZN384_HUMAN	zinc finger protein 384	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CATGGGAGCCGAAATGGGGAA	0.552			T	"EWSR1, TAF15 "	ALL								3	50					0	0	0	0	A	6787551	G	A	6787551	3	1	64	1	0	0	0	0	1	0	0	0	17970	1059	37	1	1329	1	ZNF384	12	6787551	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	1765594	6787551	127064344	137	12740											
TM7SF3	51768	broad.mit.edu	37	chr12	27148270	27148270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcaggcagaaaatactgaTagacatcatactgcaacctc	15	9	6	11	0	2	3	2	1	1	2	4	3	2	3	1	1	4	2	1	1	6	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:27148270T>C	ENST00000343028.4	-	5	815	c.590A>G	c.(589-591)tAt>tGt	p.Y197C	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	197						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					AAAATACTGATAGACATCATA	0.507													49	59					0	0	0	0	C	27148270	T	C	27148270	3	2	64	1	0	0	0	0	1	0	0	0	16069	1406	49	5	1154	5	TM7SF3	12	27148270	Missense_Mutation	SNP	T	TCGA-CN-4730-01A-01D-1434-08	20360719	27148270	106703625	138	12741											
GPD1	2819	broad.mit.edu	37	chr12	50500210	50500210	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttctgtgagacaaccattgGtgagagccccctggcacctg	8	9	12	12	0	1	2	0	2	1	2	1	4	1	2	4	2	2	2	4	2	1	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:50500210G>C	ENST00000301149.3	+	4	731		c.e4+1		GPD1_ENST00000548814.1_Splice_Site|GPD1_ENST00000547190.1_Splice_Site	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)						glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	ACAACCATTGGTGAGAGCCCC	0.567													15	49					0	0	0	0	C	50500210	G	C	50500210	5	2	64	1	0	0	0	0	0	0	1	0	6653	1275	44	4	514	4	GPD1	12	50500210	Splice_Site	SNP	G	TCGA-CN-4730-01A-01D-1434-08	23351940	50500210	83351685	139	12742											
KRT6C	286887	broad.mit.edu	37	chr12	52864386	52864386	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcgcaggtcgtccccatgtCtgcctgctgtgacctgcagc	4	10	12	15	2	1	1	0	1	1	0	3	1	2	1	4	1	5	3	4	1	0	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:52864386C>G	ENST00000252250.6	-	6	1153	c.1106G>C	c.(1105-1107)aGa>aCa	p.R369T		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	369	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTCCCCATGTCTGCCTGCTGT	0.547													28	114					0	0	0	0	G	52864386	C	G	52864386	3	3	64	1	0	0	0	0	1	0	0	0	8534	913	32	2	604	2	KRT6C	12	52864386	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	2364176	52864386	80987509	140	12743											
KRT78	196374	broad.mit.edu	37	chr12	53240016	53240016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcaagaagtagaggtactCtctcagagcctccagcttgc	10	10	9	12	0	3	3	2	0	1	3	5	3	4	3	2	1	4	3	2	1	4	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:53240016C>T	ENST00000359499.4	-	4	402	c.391G>A	c.(391-393)Gag>Aag	p.E131K	KRT78_ENST00000304620.4_Missense_Mutation_p.E241K			Q8N1N4	K2C78_HUMAN	keratin 78	241	Coil 1A.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TAGAGGTACTCTCTCAGAGCC	0.552													19	66					0	0	0	0	T	53240016	C	T	53240016	3	4	64	1	0	0	0	0	1	0	0	0	8543	922	32	2	865	2	KRT78	12	53240016	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	375630	53240016	80611879	141	12744											
AVPR1A	552	broad.mit.edu	37	chr12	63541363	63541363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaaaacatgtatatccaggGattacagcagctattcaagg	17	9	8	7	0	1	0	1	0	0	0	2	1	2	1	1	2	4	3	1	2	8	5			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:63541363G>T	ENST00000299178.2	-	2	1138	c.1033C>A	c.(1033-1035)Ccc>Acc	p.P345T		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	345					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TATATCCAGGGATTACAGCAG	0.388													70	109					1.34568e-36	1.50766e-36	1	0	T	63541363	G	T	63541363	3	4	64	1	0	0	0	0	1	0	0	0	1235	1174	41	2	227	2	AVPR1A	12	63541363	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	10301347	63541363	70310532	142	12745											
KCNC2	3747	broad.mit.edu	37	chr12	75444702	75444702	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctacaaaatggcgggtGagcttgaaaattctcaggat	14	9	11	7	1	1	3	1	2	1	1	2	4	1	4	1	3	2	1	1	3	5	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:75444702G>T	ENST00000549446.1	-	3	1763	c.1083C>A	c.(1081-1083)ctC>ctA	p.L361L	KCNC2_ENST00000540018.1_Silent_p.L361L|KCNC2_ENST00000341669.3_Silent_p.L361L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000548513.1_Silent_p.L361L|KCNC2_ENST00000393288.2_Silent_p.L361L|KCNC2_ENST00000298972.1_Silent_p.L361L|KCNC2_ENST00000350228.2_Silent_p.L361L|KCNC2_ENST00000550433.1_Silent_p.L361L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	361					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AATGGCGGGTGAGCTTGAAAA	0.463													5	60					0.184627	0.186945	1	0	T	75444702	G	T	75444702	2	4	64	1	0	0	0	0	0	0	0	1	8068	1277	45	2		2	KCNC2	12	75444702	Silent	SNP	G	TCGA-CN-4730-01A-01D-1434-08	11903339	75444702	58407193	143	12746											
ACSS3	79611	broad.mit.edu	37	chr12	81471976	81471976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgcctgggtcctctcCggcccggggagccggtgcgg	1	7	17	16	4	1	0	0	0	1	0	3	1	2	1	6	6	3	0	6	6	0	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:81471976C>T	ENST00000548058.1	+	1	987	c.77C>T	c.(76-78)cCg>cTg	p.P26L	ACSS3_ENST00000261206.3_Missense_Mutation_p.P26L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	26						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGGTCCTCTCCGGCCCGGGGA	0.741													7	9					0	0	0	0	T	81471976	C	T	81471976	3	4	64	1	0	0	0	0	1	0	0	0	190	652	23	1	79	1	ACSS3	12	81471976	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	6027274	81471976	52379919	144	12747											
MED13L	23389	broad.mit.edu	37	chr12	116420250	116420250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatttctgtgtagcagCgcatcaagctcaacagccaa	12	8	8	13	1	3	0	2	0	1	0	3	0	3	0	2	0	6	5	2	0	4	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:116420250C>T	ENST00000281928.3	-	22	5320	c.5114G>A	c.(5113-5115)cGc>cAc	p.R1705H		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1705					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGTGTAGCAGCGCATCAAGCT	0.438													55	82					0	0	0	0	T	116420250	C	T	116420250	3	4	64	1	0	0	0	0	1	0	0	0	9500	768	27	1	1558	1	MED13L	12	116420250	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	34948274	116420250	17431645	145	12748											
AACS	65985	broad.mit.edu	37	chr12	125621304	125621304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcctgaagatggcctccgGgcacgccttccagcctgact	6	9	10	16	2	0	3	0	2	0	1	3	3	3	3	6	2	1	1	6	2	1	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:125621304G>A	ENST00000316519.6	+	17	1981	c.1775G>A	c.(1774-1776)gGg>gAg	p.G592E	AACS_ENST00000316543.10_Missense_Mutation_p.G190E|AACS_ENST00000261686.6_Intron|AACS_ENST00000545511.1_Intron|AACS_ENST00000543665.1_Intron	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	592					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATGGCCTCCGGGCACGCCTTC	0.592													72	82					0	0	0	0	A	125621304	G	A	125621304	3	1	64	1	0	0	0	0	1	0	0	0	9	1232	43	4	1841	4	AACS	12	125621304	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	9201054	125621304	8230591	146	12749											
KLHL1	57626	broad.mit.edu	37	chr13	70413285	70413285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatgcatgattttctaggtCagccaatatctgtgaataat	13	15	7	6	0	3	2	1	2	2	0	3	2	3	2	1	1	2	1	1	1	6	6			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr13:70413285C>T	ENST00000377844.4	-	6	1996	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N	KLHL1_ENST00000545028.1_Missense_Mutation_p.D220N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	413					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTTTCTAGGTCAGCCAATATC	0.299													64	77					0	0	0	0	T	70413285	C	T	70413285	3	4	64	1	0	0	0	0	1	0	0	0	8417	826	29	2	1033	2	KLHL1	13	70413285	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08		70413285	44756593	147	12750											
OR11H6	122748	broad.mit.edu	37	chr14	20692282	20692282	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttatcagttatggcttaTgatcggtacctggccatctg	7	17	9	8	1	2	1	1	1	1	0	3	1	2	1	2	3	1	3	2	3	4	6			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr14:20692282T>A	ENST00000315519.2	+	1	492	c.414T>A	c.(412-414)taT>taA	p.Y138*		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTATGGCTTATGATCGGTACC	0.428													136	188					0	0	0	0	A	20692282	T	A	20692282	4	1	64	1	0	0	0	0	0	1	0	0	11000	1471	51	5	416	5	OR11H6	14	20692282	Nonsense_Mutation	SNP	T	TCGA-CN-4730-01A-01D-1434-08		20692282	86657258	148	12751											
CDH24	64403	broad.mit.edu	37	chr14	23524350	23524350	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgttgatgtcttgcactttGatgatgaactctgatggggg	7	15	13	6	1	2	5	0	5	2	0	3	5	2	5	0	2	2	2	0	2	1	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr14:23524350G>C	ENST00000397359.3	-	3	673	c.414C>G	c.(412-414)atC>atG	p.I138M	CDH24_ENST00000487137.2_Missense_Mutation_p.I138M|CDH24_ENST00000267383.5_Missense_Mutation_p.I138M|CDH24_ENST00000554034.1_Missense_Mutation_p.I138M	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	138	Cadherin 1.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTTGCACTTTGATGATGAACT	0.587											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	182					0	0	0	0	C	23524350	G	C	23524350	3	2	64	1	0	0	0	0	1	0	0	0	3138	1280	45	2	2089	2	CDH24	14	23524350	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	2832068	23524350	83825190	149	12752											
TJP1	7082	broad.mit.edu	37	chr15	30019044	30019044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcgctcgtataacttcctgGcacttttccgagattctgga	8	14	8	11	3	1	1	0	0	1	1	5	3	3	2	2	2	1	3	2	2	2	6			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:30019044G>A	ENST00000346128.6	-	17	2726	c.2252C>T	c.(2251-2253)gCc>gTc	p.A751V	TJP1_ENST00000356107.6_Missense_Mutation_p.A751V|TJP1_ENST00000400011.2_Missense_Mutation_p.A755V|TJP1_ENST00000545208.2_Missense_Mutation_p.A751V	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	751	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TAACTTCCTGGCACTTTTCCG	0.363													4	202					0	0	0	0	A	30019044	G	A	30019044	3	1	64	1	0	0	0	0	1	0	0	0	16023	1203	42	4	3042	4	TJP1	15	30019044	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08		30019044	72512348	150	12753											
CCPG1	9236	broad.mit.edu	37	chr15	55652461	55652461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctctttatgatgccttaCaaactccttggtagaattct	9	18	5	9	0	2	2	0	1	2	1	4	2	3	2	2	1	3	1	2	1	5	7			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:55652461C>A	ENST00000310958.6	-	8	1808	c.1510G>T	c.(1510-1512)Gta>Tta	p.V504L	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.V504L|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000442196.3_Missense_Mutation_p.V504L	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	504					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TGATGCCTTACAAACTCCTTG	0.363													184	205					4.04931e-71	4.60062e-71	1	0	A	55652461	C	A	55652461	3	1	64	1	0	0	0	0	1	0	0	0	2967	478	17	4	767	4	CCPG1	15	55652461	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	25633417	55652461	46878931	151	12754											
IQCH	64799	broad.mit.edu	37	chr15	67681204	67681204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatctacatctgctcccatCatatgaatgacgagttagtg	11	13	7	10	1	4	2	2	2	2	0	5	3	5	2	1	0	2	2	1	0	4	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:67681204C>T	ENST00000335894.4	+	12	1558	c.1492C>T	c.(1492-1494)Cat>Tat	p.H498Y	IQCH_ENST00000358767.3_Missense_Mutation_p.H325Y|IQCH_ENST00000546225.1_Missense_Mutation_p.H246Y|IQCH_ENST00000360277.4_Missense_Mutation_p.H250Y	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	498										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CTGCTCCCATCATATGAATGA	0.408													6	166					0	0	0	0	T	67681204	C	T	67681204	3	4	64	1	0	0	0	0	1	0	0	0	7864	826	29	2	1666	2	IQCH	15	67681204	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	12028743	67681204	34850188	152	12755											
KIF7	374654	broad.mit.edu	37	chr15	90176982	90176982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctgctccgtctcctcgcGaagccgcctctgcagctgtc	3	11	9	18	4	3	0	0	0	3	0	7	1	4	0	4	0	4	3	4	0	1	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:90176982G>A	ENST00000394412.3	-	12	2603	c.2527C>T	c.(2527-2529)Cgc>Tgc	p.R843C		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	843					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GTCTCCTCGCGAAGCCGCCTC	0.657													5	20					0	0	0	0	A	90176982	G	A	90176982	3	1	64	1	0	0	0	0	1	0	0	0	8360	1058	37	1	1536	1	KIF7	15	90176982	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	22495778	90176982	12354410	153	12756											
ADCY9	115	broad.mit.edu	37	chr16	4164183	4164183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgaagcgaccgaacagatCgttcaggagacccaccaggg	12	4	13	12	4	1	2	1	0	0	2	3	6	1	2	3	2	2	1	3	2	2	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:4164183C>T	ENST00000294016.3	-	2	1799	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	421	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCGAACAGATCGTTCAGGAGA	0.552													28	135					0	0	0	0	T	4164183	C	T	4164183	3	4	64	1	0	0	0	0	1	0	0	0	301	884	31	1	2840	1	ADCY9	16	4164183	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08		4164183	86190570	154	12757											
NMRAL1	57407	broad.mit.edu	37	chr16	4519402	4519402	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcctagggtttcgggtCaccactcgaaccttgaatgt	7	14	9	11	2	2	1	1	1	1	0	5	2	3	1	3	2	1	1	3	2	3	5			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:4519402C>T	ENST00000574733.1	-	3	834	c.105G>A	c.(103-105)gtG>gtA	p.V35V	NMRAL1_ENST00000283429.6_Silent_p.V35V|NMRAL1_ENST00000574425.1_Silent_p.V35V|NMRAL1_ENST00000572391.1_Intron|NMRAL1_ENST00000404295.3_Silent_p.V35V			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	35						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GGTTTCGGGTCACCACTCGAA	0.562													150	328					0	0	0	0	T	4519402	C	T	4519402	2	4	64	1	0	0	0	0	0	0	0	1	10571	813	29	2		2	NMRAL1	16	4519402	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	355219	4519402	85835351	155	12758											
KIAA0556	23247	broad.mit.edu	37	chr16	27772758	27772758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcagctgaatttcactgcctCctggggagacttgcactacc	8	11	9	13	0	2	2	2	1	0	1	3	3	3	2	3	2	4	2	3	2	2	3	rs71389807		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:27772758C>G	ENST00000261588.4	+	19	3675	c.3656C>G	c.(3655-3657)tCc>tGc	p.S1219C		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1219										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TTCACTGCCTCCTGGGGAGAC	0.587													24	140					0	0	0	0	G	27772758	C	G	27772758	3	3	64	1	0	0	0	0	1	0	0	0	8234	855	30	2	3730	2	KIAA0556	16	27772758	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	23253356	27772758	62581995	156	12759											
GDPD3	79153	broad.mit.edu	37	chr16	30122798	30122798	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtagtaggaaagcagcacCcagaatcctcggcttattgt	12	9	11	9	1	0	1	0	0	0	1	2	2	1	2	2	3	2	5	2	3	5	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:30122798C>T	ENST00000406256.3	-	7	995	c.618G>A	c.(616-618)tgG>tgA	p.W206*		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	206	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AAAGCAGCACCCAGAATCCTC	0.557													98	229					0	0	0	0	T	30122798	C	T	30122798	4	4	64	1	0	0	0	0	0	1	0	0	6376	624	22	4	354	4	GDPD3	16	30122798	Nonsense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	2350040	30122798	60231955	157	12760											
C16orf78	123970	broad.mit.edu	37	chr16	49430524	49430524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctaaagagcctcatggaGaaaagcaccgaacctaagat	18	5	9	9	1	1	3	1	0	0	3	1	5	1	3	3	1	4	2	3	1	7	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:49430524G>T	ENST00000299191.3	+	4	702	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	195										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GCCTCATGGAGAAAAGCACCG	0.547													21	32					7.45023e-12	8.01313e-12	1	0	T	49430524	G	T	49430524	3	4	64	1	0	0	0	0	1	0	0	0	1848	933	33	2	599	2	C16orf78	16	49430524	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	19307726	49430524	40924229	158	12761											
CES1	1066	broad.mit.edu	37	chr16	55846957	55846957	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagaaggggttgactcTggggagagagcagtgcagca	10	6	17	8	0	1	3	0	1	1	2	1	5	1	4	1	4	4	4	1	4	1	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:55846957T>A	ENST00000422046.2	-	9	1224		c.e9-2		CES1_ENST00000360526.3_Splice_Site|CES1_ENST00000361503.4_Splice_Site			P23141	EST1_HUMAN	carboxylesterase 1						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)	GGGTTGACTCTGGGGAGAGAG	0.542													67	101					0	0	0	0	A	55846957	T	A	55846957	5	1	64	1	0	0	0	0	0	0	1	0	3298	1594	55	5	786	5	CES1	16	55846957	Splice_Site	SNP	T	TCGA-CN-4730-01A-01D-1434-08	6416433	55846957	34507796	159	12762											
HERPUD1	9709	broad.mit.edu	37	chr16	56977167	56977167	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagactttctttgcctctCttcttccagaaggcccccca	7	13	5	16	0	4	2	1	0	3	2	6	2	5	2	5	1	1	0	5	1	2	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:56977167C>G	ENST00000439977.2	+	8	1338	c.1141C>G	c.(1141-1143)Ctt>Gtt	p.L381V	HERPUD1_ENST00000379792.2_Missense_Mutation_p.L356V|HERPUD1_ENST00000300302.5_Missense_Mutation_p.L380V|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000344114.4_Missense_Mutation_p.L222V	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	381						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CTTTGCCTCTCTTCTTCCAGA	0.532			T	ERG	prostate								113	553					0	0	0	0	G	56977167	C	G	56977167	3	3	64	1	0	0	0	0	1	0	0	0	7113	913	32	2	1171	2	HERPUD1	16	56977167	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	1130210	56977167	33377586	160	12763											
WWOX	51741	broad.mit.edu	37	chr16	78466606	78466607	+	Frame_Shift_Del	DEL	AC	AC	-																															tcatcgcagctggtgggtgtAcacactgctgtttaccttgg																										TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:78466606_78466607delAC	ENST00000566780.1	+	8	1379_1380	c.1013_1014delAC	c.(1012-1014)tfs	p.Y338fs	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Frame_Shift_Del_p.Y338fs	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	338	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TGGTGGGTGTACACACTGCTGT	0.554													8	611	---	---	---	---					-	78466607	AC	-	78466606	7	5	64	1	0	1	0	1	0	0	0	0	17510	391	14	0	1105	0	WWOX	16	78466606	Frame_Shift_Del	DEL	AC	TCGA-CN-4730-01A-01D-1434-08	21489439	78466606	11888147	161	12764											
ANKRD11	29123	broad.mit.edu	37	chr16	89348470	89348470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcgtccctgtgatgccGcaggagctcgtccctgtgat	4	11	12	14	3	0	2	0	2	0	0	4	3	2	3	3	1	3	3	3	1	0	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:89348470G>A	ENST00000301030.4	-	9	4940	c.4480C>T	c.(4480-4482)Cgg>Tgg	p.R1494W	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1494W	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1494	Lys-rich.					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)		CTGTGATGCCGCAGGAGCTCG	0.647													21	68					0	0	0	0	A	89348470	G	A	89348470	3	1	64	1	0	0	0	0	1	0	0	0	639	1086	38	1	3531	1	ANKRD11	16	89348470	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	10881864	89348470	1006283	162	12765											
TAOK1	57551	broad.mit.edu	37	chr17	27837971	27837971	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatagttttctcgagtcccaGaaaagagagtataaacttcg	15	11	8	7	2	1	2	0	0	1	2	4	4	2	2	1	0	1	2	1	0	7	6			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:27837971G>A	ENST00000261716.3	+	15	2184	c.1665G>A	c.(1663-1665)caG>caA	p.Q555Q	TAOK1_ENST00000536202.1_Silent_p.Q555Q	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	555					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TCGAGTCCCAGAAAAGAGAGT	0.338													13	159					0	0	0	0	A	27837971	G	A	27837971	2	1	64	1	0	0	0	0	0	0	0	1	15638	933	33	2		2	TAOK1	17	27837971	Silent	SNP	G	TCGA-CN-4730-01A-01D-1434-08		27837971	53357239	163	12766											
ERBB2	2064	broad.mit.edu	37	chr17	37881982	37881982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgactgtgtgggagctgatGacttttggggccaaacctta	8	12	14	7	0	0	3	0	3	0	0	0	4	0	4	2	3	2	1	2	3	2	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:37881982G>A	ENST00000406381.2	+	25	3168	c.2658G>A	c.(2656-2658)atG>atA	p.M886I	ERBB2_ENST00000445658.2_Missense_Mutation_p.M640I|ERBB2_ENST00000269571.5_Missense_Mutation_p.M916I|ERBB2_ENST00000541774.1_Missense_Mutation_p.M901I|ERBB2_ENST00000540147.1_Missense_Mutation_p.M886I|ERBB2_ENST00000584601.1_Missense_Mutation_p.M886I|ERBB2_ENST00000584450.1_Missense_Mutation_p.M916I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	916	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GGGAGCTGATGACTTTTGGGG	0.602		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			7	110					0	0	0	0	A	37881982	G	A	37881982	3	1	64	1	0	0	0	0	1	0	0	0	5244	1290	45	2	2838	2	ERBB2	17	37881982	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	10044011	37881982	43313228	164	12767			3	22		3	3	1597	G		4.468336e-05
ERBB2	2064	broad.mit.edu	37	chr17	37882022	37882022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgatgggatcccagcccggGagatccctgacctgctggaa	9	6	13	13	2	0	2	0	1	0	1	2	6	2	4	4	3	2	1	4	3	1	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:37882022G>A	ENST00000406381.2	+	25	3208	c.2698G>A	c.(2698-2700)Gag>Aag	p.E900K	ERBB2_ENST00000445658.2_Missense_Mutation_p.E654K|ERBB2_ENST00000269571.5_Missense_Mutation_p.E930K|ERBB2_ENST00000541774.1_Missense_Mutation_p.E915K|ERBB2_ENST00000540147.1_Missense_Mutation_p.E900K|ERBB2_ENST00000584601.1_Missense_Mutation_p.E900K|ERBB2_ENST00000584450.1_Missense_Mutation_p.E930K	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	930	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CCCAGCCCGGGAGATCCCTGA	0.592		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			6	110					0	0	0	0	A	37882022	G	A	37882022	3	1	64	1	0	0	0	0	1	0	0	0	5244	1175	41	2	2878	2	ERBB2	17	37882022	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	40	37882022	43313188	165	12768			3	22		3	3	1597	G		4.468336e-05
ERBB2	2064	broad.mit.edu	37	chr17	37883578	37883578	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggacctgacactagggctgGagccctctgaagaggaggcc	9	5	16	11	0	1	3	0	2	1	1	1	6	1	6	3	5	1	1	3	5	2	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:37883578G>C	ENST00000406381.2	+	28	3610	c.3100G>C	c.(3100-3102)Gag>Cag	p.E1034Q	ERBB2_ENST00000445658.2_Missense_Mutation_p.E788Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.E1064Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.E1049Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.E1034Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.E1034Q|ERBB2_ENST00000584450.1_Intron	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1064					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ACTAGGGCTGGAGCCCTCTGA	0.612		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			4	105					0	0	0	0	C	37883578	G	C	37883578	3	2	64	1	0	0	0	0	1	0	0	0	5244	1175	41	2	3292	2	ERBB2	17	37883578	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	1556	37883578	43311632	166	12769			3	22		3	3	1597	G		4.468336e-05
PSMD3	5709	broad.mit.edu	37	chr17	38142913	38142913	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgcctgaagtggaagcctAtctccaactcctcgtggtca	8	10	9	14	1	2	1	1	1	1	0	5	2	3	2	5	2	3	0	5	2	4	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:38142913A>G	ENST00000264639.4	+	3	671	c.497A>G	c.(496-498)tAt>tGt	p.Y166C	PSMD3_ENST00000541736.1_Missense_Mutation_p.Y28C	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	166					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GTGGAAGCCTATCTCCAACTC	0.537													139	219					0	0	0	0	G	38142913	A	G	38142913	3	3	64	1	0	0	0	0	1	0	0	0	12778	449	16	5	507	5	PSMD3	17	38142913	Missense_Mutation	SNP	A	TCGA-CN-4730-01A-01D-1434-08	259335	38142913	43052297	167	12770											
RARA	5914	broad.mit.edu	37	chr17	38487504	38487504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcctgcccgacacctGggggcgggcacctcaatggg	6	5	15	15	2	1	0	1	0	0	0	2	1	2	0	4	4	2	3	4	4	1	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:38487504G>T	ENST00000254066.5	+	2	489	c.34G>T	c.(34-36)Ggg>Tgg	p.G12W	RARA_ENST00000425707.3_Missense_Mutation_p.G12W|RARA_ENST00000394089.2_Missense_Mutation_p.G12W	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	12	Modulating.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCCGACACCTGGGGGCGGGCA	0.662			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL								23	122					3.28513e-13	3.56503e-13	1	0	T	38487504	G	T	38487504	3	4	64	1	0	0	0	0	1	0	0	0	13134	1348	47	4	36	4	RARA	17	38487504	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	344591	38487504	42707706	168	12771											
ATP6V0A1	535	broad.mit.edu	37	chr17	40665994	40665994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccctcagcctcgctcatgCgcgtgagtacctctctccgg	4	9	11	17	4	3	1	2	1	1	0	6	1	4	1	4	2	3	2	4	2	1	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:40665994C>T	ENST00000343619.4	+	20	2369	c.2246C>T	c.(2245-2247)gCg>gTg	p.A749V	ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.A706V|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.A749V|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.A743V|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.A395V|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.A750V|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.A700V	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	749					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTCGCTCATGCGCGTGAGTAC	0.582													4	235					0	0	0	0	T	40665994	C	T	40665994	3	4	64	1	0	0	0	0	1	0	0	0	1172	768	27	1	2341	1	ATP6V0A1	17	40665994	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08	2178490	40665994	40529216	169	12772											
HLF	3131	broad.mit.edu	37	chr17	53345376	53345376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctcggtcatggacctcaGcagccgggcctctgcacccc	5	6	10	20	2	3	0	2	0	1	0	4	1	3	1	7	3	3	2	7	3	0	0			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:53345376G>A	ENST00000226067.5	+	2	853	c.380G>A	c.(379-381)aGc>aAc	p.S127N	HLF_ENST00000430986.2_Missense_Mutation_p.S42N|HLF_ENST00000573945.1_Missense_Mutation_p.S42N|HLF_ENST00000575345.1_Missense_Mutation_p.S42N	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	127					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						ATGGACCTCAGCAGCCGGGCC	0.617			T	TCF3	ALL								49	205					0	0	0	0	A	53345376	G	A	53345376	3	1	64	1	0	0	0	0	1	0	0	0	7264	971	34	4	386	4	HLF	17	53345376	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	12679382	53345376	27849834	170	12773											
FTSJ3	117246	broad.mit.edu	37	chr17	61901558	61901558	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttgtggttccagctgttGagtcctcctcatcaccttca	5	15	8	13	0	3	1	3	1	0	0	6	1	6	1	4	1	1	4	4	1	0	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:61901558G>C	ENST00000427159.2	-	12	1685	c.1040C>G	c.(1039-1041)tCa>tGa	p.S347*		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	347					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCCAGCTGTTGAGTCCTCCTC	0.537													17	374					0	0	0	0	C	61901558	G	C	61901558	4	2	64	1	0	0	0	0	0	1	0	0	6137	1294	45	2	1543	2	FTSJ3	17	61901558	Nonsense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	8556182	61901558	19293652	171	12774											
FTSJ3	117246	broad.mit.edu	37	chr17	61902698	61902698	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgaaagatccatagcaGaggctgatagtcacgagaac	14	7	11	9	1	1	5	1	2	0	3	2	6	2	5	1	1	3	3	1	1	4	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:61902698G>A	ENST00000427159.2	-	7	1144	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	167					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ATCCATAGCAGAGGCTGATAG	0.532													7	113					0	0	0	0	A	61902698	G	A	61902698	2	1	64	1	0	0	0	0	0	0	0	1	6137	933	33	2		2	FTSJ3	17	61902698	Silent	SNP	G	TCGA-CN-4730-01A-01D-1434-08	1140	61902698	19292512	172	12775											
EPB41L3	23136	broad.mit.edu	37	chr18	5478351	5478351	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagagtttactgctagatgaTttctgagaaagtttatcgtc	11	15	10	5	1	1	4	0	2	1	3	3	6	1	4	0	0	2	3	0	0	4	6			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr18:5478351T>A	ENST00000341928.2	-	3	610	c.270A>T	c.(268-270)aaA>aaT	p.K90N	EPB41L3_ENST00000544123.1_Missense_Mutation_p.K90N|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K90N|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K90N|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K90N|RP11-286N3.1_ENST00000577527.1_RNA	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	90					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGCTAGATGATTTCTGAGAAA	0.413													53	111					0	0	0	0	A	5478351	T	A	5478351	3	1	64	1	0	0	0	0	1	0	0	0	5192	1490	52	5	3073	5	EPB41L3	18	5478351	Missense_Mutation	SNP	T	TCGA-CN-4730-01A-01D-1434-08		5478351	72598897	173	12776											
LRRC30	339291	broad.mit.edu	37	chr18	7231916	7231916	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgtagactggtgaggatCgcctggaatcccatggacaa	10	9	13	9	1	0	2	0	1	0	1	2	5	1	5	2	4	0	1	2	4	3	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr18:7231916C>T	ENST00000383467.2	+	1	794	c.780C>T	c.(778-780)atC>atT	p.I260I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	260										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGTGAGGATCGCCTGGAATC	0.587													184	224					0	0	0	0	T	7231916	C	T	7231916	2	4	64	1	0	0	0	0	0	0	0	1	9049	874	31	1		1	LRRC30	18	7231916	Silent	SNP	C	TCGA-CN-4730-01A-01D-1434-08	1753565	7231916	70845332	174	12777											
CDH19	28513	broad.mit.edu	37	chr18	64178822	64178822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccttgattatctatgattGtaaaacttgaattgttagtg	12	18	7	4	0	1	3	0	3	1	0	1	3	1	3	1	0	2	2	1	0	7	9			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr18:64178822G>C	ENST00000262150.2	-	10	1851	c.1559C>G	c.(1558-1560)aCa>aGa	p.T520R	CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	520	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATCTATGATTGTAAAACTTGA	0.308													35	37					0	0	0	0	C	64178822	G	C	64178822	3	2	64	1	0	0	0	0	1	0	0	0	3133	1377	48	4	771	4	CDH19	18	64178822	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	56946906	64178822	13898426	175	12778											
UHRF1	29128	broad.mit.edu	37	chr19	4932906	4932906	+	RNA	SNP	G	G	A																															cggggcttctggtacgacgcGgagatctccaggaagcgcga																										TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:4932906G>A	ENST00000592666.1	+	0	1299							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GGTACGACGCGGAGATCTCCA	0.657													18	50					0	0	0	0	A	4932906	G	A	4932906	1	1	64	0	1	0	0	0	0	0	0	0	17063	1103	39	1		1	UHRF1	19	4932906	RNA	SNP	G	TCGA-CN-4730-01A-01D-1434-08		4932906	54196077	176	12779	112	2									
UHRF1	29128	broad.mit.edu	37	chr19	4932907	4932907	+	RNA	SNP	G	G	C																															ggggcttctggtacgacgcgGagatctccaggaagcgcgag																										TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:4932907G>C	ENST00000592666.1	+	0	1300							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GTACGACGCGGAGATCTCCAG	0.652													18	49					0	0	0	0	C	4932907	G	C	4932907	1	2	64	0	1	0	0	0	0	0	0	0	17063	1175	41	2		2	UHRF1	19	4932907	RNA	SNP	G	TCGA-CN-4730-01A-01D-1434-08	1	4932907	54196076	177	12780	112	2									
ZNF358	140467	broad.mit.edu	37	chr19	7584188	7584188	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctgagacccgtttatgaAgagctcgactctgactccga	9	9	11	12	3	1	4	0	3	1	2	3	7	2	4	3	1	1	2	3	1	2	2			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:7584188A>T	ENST00000597229.1	+	2	230	c.60A>T	c.(58-60)gaA>gaT	p.E20D	CTD-2207O23.12_ENST00000599312.1_3'UTR|ZNF358_ENST00000394341.2_Missense_Mutation_p.E20D	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	20					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCGTTTATGAAGAGCTCGACT	0.582													81	100					0	0	0	0	T	7584188	A	T	7584188	3	4	64	1	0	0	0	0	1	0	0	0	17962	69	3	5	62	5	ZNF358	19	7584188	Missense_Mutation	SNP	A	TCGA-CN-4730-01A-01D-1434-08	2651281	7584188	51544795	178	12781											
ZNF317	57693	broad.mit.edu	37	chr19	9271903	9271903	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaagccacacgggggagAaaccgtacgaatgcgatcac	13	4	13	11	5	1	1	1	0	0	1	1	5	1	1	2	2	5	1	2	2	4	1			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:9271903A>T	ENST00000247956.6	+	7	1887	c.1582A>T	c.(1582-1584)Aaa>Taa	p.K528*	ZNF317_ENST00000360385.3_Nonsense_Mutation_p.K496*	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CACGGGGGAGAAACCGTACGA	0.557													14	62					0	0	0	0	T	9271903	A	T	9271903	4	4	64	1	0	0	0	0	0	1	0	0	17930	247	9	5	1604	5	ZNF317	19	9271903	Nonsense_Mutation	SNP	A	TCGA-CN-4730-01A-01D-1434-08	1687715	9271903	49857080	179	12782											
ZNF676	163223	broad.mit.edu	37	chr19	22363091	22363091	+	Silent	SNP	A	A	G																															ccacattcttcacatttgtaAggtttctctgcagcatgaat																										TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:22363091A>G	ENST00000397121.2	-	3	1745	c.1428T>C	c.(1426-1428)ccT>ccC	p.P476P		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAAGGTTTCTCTG	0.388													38	151					0	0	0	0	G	22363091	A	G	22363091	2	3	64	1	0	0	0	0	0	0	0	1	18178	59	3	5		5	ZNF676	19	22363091	Silent	SNP	A	TCGA-CN-4730-01A-01D-1434-08	13091188	22363091	36765892	180	12783	113	2									
ZNF676	163223	broad.mit.edu	37	chr19	22363101	22363101	+	Missense_Mutation	SNP	G	G	C																															cacatttgtaaggtttctctGcagcatgaattctcttgtgt																										TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:22363101G>C	ENST00000397121.2	-	3	1735	c.1418C>G	c.(1417-1419)gCa>gGa	p.A473G		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGGTTTCTCTGCAGCATGAAT	0.388													22	159					0	0	0	0	C	22363101	G	C	22363101	3	2	64	1	0	0	0	0	1	0	0	0	18178	1319	46	4	352	4	ZNF676	19	22363101	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	10	22363101	36765882	181	12784	113	2									
ZNF790	388536	broad.mit.edu	37	chr19	37309350	37309350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatttcacaagagtgaaatGaagtgagagcttgaagaaaa	19	9	10	3	0	1	6	1	4	0	3	1	7	1	6	0	0	1	1	0	0	7	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:37309350G>T	ENST00000356725.4	-	5	2016	c.1896C>A	c.(1894-1896)ttC>ttA	p.F632L	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAGTGAAATGAAGTGAGAGC	0.308													4	95					0.00024832	0.000259023	1	0	T	37309350	G	T	37309350	3	4	64	1	0	0	0	0	1	0	0	0	18255	1281	45	2	18	2	ZNF790	19	37309350	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	14946249	37309350	21819633	182	12785											
ZNF570	148268	broad.mit.edu	37	chr19	37974837	37974837	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagcaggatttttatgaaGaacatcaatcccagaagata	18	9	7	7	0	1	4	1	1	0	3	2	5	2	5	1	1	2	1	1	1	7	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:37974837G>C	ENST00000330173.1	+	5	842	c.313G>C	c.(313-315)Gaa>Caa	p.E105Q	ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.E161Q	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTTATGAAGAACATCAATC	0.363													36	157					0	0	0	0	C	37974837	G	C	37974837	3	2	64	1	0	0	0	0	1	0	0	0	18097	943	33	2	327	2	ZNF570	19	37974837	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08	665487	37974837	21154146	183	12786											
PRPF31	26121	broad.mit.edu	37	chr19	54621975	54621975	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgagattatgatgaagaTtgaggagtatatcagcaagc	14	11	12	4	0	1	5	1	4	0	2	1	7	1	6	0	1	3	3	0	1	5	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:54621975T>C	ENST00000321030.4	+	3	549	c.200T>C	c.(199-201)aTt>aCt	p.I67T	PRPF31_ENST00000391755.1_Missense_Mutation_p.I67T|PRPF31_ENST00000419967.1_Missense_Mutation_p.I67T	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	67					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ATGATGAAGATTGAGGAGTAT	0.512													40	215					0	0	0	0	C	54621975	T	C	54621975	3	2	64	1	0	0	0	0	1	0	0	0	12646	1493	52	5	206	5	PRPF31	19	54621975	Missense_Mutation	SNP	T	TCGA-CN-4730-01A-01D-1434-08	16647138	54621975	4507008	184	12787											
NLRP9	338321	broad.mit.edu	37	chr19	56241286	56241286	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggctggtattttccatgtcTaaaatctggaagttcttgtt	9	17	9	6	0	3	0	0	0	3	0	4	1	4	1	1	3	0	4	1	3	4	7			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:56241286T>G	ENST00000332836.2	-	3	1932	c.1905A>C	c.(1903-1905)ttA>ttC	p.L635F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	635						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTCCATGTCTAAAATCTGGA	0.423													50	83					0	0	0	0	G	56241286	T	G	56241286	3	3	64	1	0	0	0	0	1	0	0	0	10554	1519	53	5	1098	5	NLRP9	19	56241286	Missense_Mutation	SNP	T	TCGA-CN-4730-01A-01D-1434-08	1619311	56241286	2887697	185	12788											
TPX2	22974	broad.mit.edu	37	chr20	30363779	30363779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaattcaagaaacttgctCtggctggaataggtgagctt	13	11	11	6	0	2	3	1	1	1	2	2	4	2	4	0	3	3	3	0	3	6	4			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr20:30363779C>G	ENST00000340513.4	+	8	1246	c.718C>G	c.(718-720)Ctg>Gtg	p.L240V	TPX2_ENST00000300403.6_Missense_Mutation_p.L240V			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	240					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GAAACTTGCTCTGGCTGGAAT	0.393													11	121					0	0	0	0	G	30363779	C	G	30363779	3	3	64	1	0	0	0	0	1	0	0	0	16527	912	32	2	740	2	TPX2	20	30363779	Missense_Mutation	SNP	C	TCGA-CN-4730-01A-01D-1434-08		30363779	32661741	186	12789											
TOX2	84969	broad.mit.edu	37	chr20	42694519	42694519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgccagcctcgcccggacGctgggctccaagtctctgct	4	8	11	18	3	1	0	0	0	1	0	4	1	2	1	5	2	3	3	5	2	1	0	rs143301359	byFrequency	TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr20:42694519G>A	ENST00000358131.5	+	6	1282	c.1074G>A	c.(1072-1074)acG>acA	p.T358T	TOX2_ENST00000435864.2_Silent_p.T254T|TOX2_ENST00000372999.1_Silent_p.T334T|TOX2_ENST00000341197.3_Silent_p.T376T|TOX2_ENST00000423191.1_Silent_p.T334T	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCGCCCGGACGCTGGGCTCCA	0.711													25	78					0	0	0	0	A	42694519	G	A	42694519	2	1	64	1	0	0	0	0	0	0	0	1	16473	1074	38	1		1	TOX2	20	42694519	Silent	SNP	G	TCGA-CN-4730-01A-01D-1434-08	12330740	42694519	20331001	187	12790											
MX1	4599	broad.mit.edu	37	chr21	42821216	42821216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggatatgctacacaccGtgacgggtgagtgctcagtt	8	11	13	9	2	1	2	1	2	0	0	1	3	1	3	1	2	3	3	1	2	2	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr21:42821216G>A	ENST00000398600.2	+	16	2451	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M	MX1_ENST00000455164.2_Missense_Mutation_p.V476M|MX1_ENST00000288383.6_Missense_Mutation_p.V453M|MX1_ENST00000398598.3_Missense_Mutation_p.V476M	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	476					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCTACACACCGTGACGGGTGA	0.483													47	52					0	0	0	0	A	42821216	G	A	42821216	3	1	64	1	0	0	0	0	1	0	0	0	10067	1145	40	1	1464	1	MX1	21	42821216	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08		42821216	5308679	188	12791											
SAMM50	25813	broad.mit.edu	37	chr22	44392241	44392241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtgatggcgtccagtttgGagctgggataaggttcctgt	7	13	15	6	1	0	1	0	1	0	0	2	3	2	3	2	4	1	3	2	4	1	3			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr22:44392241G>A	ENST00000350028.4	+	15	1545	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E	SAMM50_ENST00000396202.3_Missense_Mutation_p.G253E	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	463					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GTCCAGTTTGGAGCTGGGATA	0.597													127	413					0	0	0	0	A	44392241	G	A	44392241	3	1	64	1	0	0	0	0	1	0	0	0	13914	1174	41	2	1446	2	SAMM50	22	44392241	Missense_Mutation	SNP	G	TCGA-CN-4730-01A-01D-1434-08		44392241	6912325	189	12792											
NOC2L	26155	broad.mit.edu	37	chr1	891548	891548	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtggtggccacagctgcTcggaacgcctgtaccacttc	6	8	13	14	3	0	0	0	0	0	0	2	1	0	1	3	4	4	3	3	4	2	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:891548T>A	ENST00000327044.6	-	5	583	c.534A>T	c.(532-534)cgA>cgT	p.R178R	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	178				R -> Q (in Ref. 1; CAB43240).		nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCACAGCTGCTCGGAACGCCT	0.602													77	37					0	0	0	0	A	891548	T	A	891548	2	1	65	1	0	0	0	0	0	0	0	1	10583	1538	54	5		5	NOC2L	1	891548	Silent	SNP	T	TCGA-CN-4731-01A-01D-1434-08		891548	248359073	1	12793											
ALPL	249	broad.mit.edu	37	chr1	21896804	21896804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttcctcctagcactccCacttcatctggaaccgcacg	7	9	6	19	2	2	0	1	0	1	0	5	1	5	1	5	1	2	2	5	1	2	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:21896804C>G	ENST00000374840.3	+	8	1049	c.799C>G	c.(799-801)Cac>Gac	p.H267D	ALPL_ENST00000374832.1_Missense_Mutation_p.H267D|ALPL_ENST00000540617.1_Missense_Mutation_p.H212D|ALPL_ENST00000539907.1_Missense_Mutation_p.H190D|ALPL_ENST00000374830.1_5'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.H267D	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	267					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CTAGCACTCCCACTTCATCTG	0.587													46	20					0	0	0	0	G	21896804	C	G	21896804	3	3	65	1	0	0	0	0	1	0	0	0	547	594	21	4	825	4	ALPL	1	21896804	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	21005256	21896804	227353817	2	12794											
PPT1	5538	broad.mit.edu	37	chr1	40542559	40542559	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagggaatggtttccttggcTtggccacttctgtaaaatcc	9	13	10	9	0	1	0	0	0	1	0	3	1	3	1	3	4	0	3	3	4	4	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:40542559T>A	ENST00000433473.3	-	8	1217	c.753A>T	c.(751-753)caA>caT	p.Q251H	PPT1_ENST00000530076.1_Missense_Mutation_p.Q32H|PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000449045.2_Missense_Mutation_p.Q148H	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	251					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTCCTTGGCTTGGCCACTTC	0.463													20	200					0	0	0	0	A	40542559	T	A	40542559	3	1	65	1	0	0	0	0	1	0	0	0	12487	1606	56	5	175	5	PPT1	1	40542559	Missense_Mutation	SNP	T	TCGA-CN-4731-01A-01D-1434-08	18645755	40542559	208708062	3	12795											
TIE1	7075	broad.mit.edu	37	chr1	43783610	43783610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacctgctagattttctgcGgaaaagccgggtcctagaga	11	9	12	9	2	1	2	0	0	1	2	2	5	2	3	3	2	4	1	3	2	5	4			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:43783610G>A	ENST00000372476.3	+	17	2868	c.2789G>A	c.(2788-2790)cGg>cAg	p.R930Q	TIE1_ENST00000433781.2_Missense_Mutation_p.R575Q|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	930	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATTTTCTGCGGAAAAGCCGG	0.532													190	371					0	0	0	0	A	43783610	G	A	43783610	3	1	65	1	0	0	0	0	1	0	0	0	15987	1116	39	1	2855	1	TIE1	1	43783610	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	3241051	43783610	205467011	4	12796											
LRRC40	55631	broad.mit.edu	37	chr1	70614215	70614215	+	Frame_Shift_Del	DEL	T	T	-																															ctggtggaatttgtaagaggTcattattttgaaggtccaac																										TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:70614215delT	ENST00000370952.3	-	14	1737	c.1658delA	c.(1657-1659)gcfs	p.D553fs		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	553										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TTGTAAGAGGTCATTATTTTG	0.353													133	279	---	---	---	---					-	70614215	T	-	70614215	7	5	65	1	0	1	0	1	0	0	0	0	9062	1667	58	0	158	0	LRRC40	1	70614215	Frame_Shift_Del	DEL	T	TCGA-CN-4731-01A-01D-1434-08	26830605	70614215	178636406	5	12797											
ITGA10	8515	broad.mit.edu	37	chr1	145535006	145535006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggtgcccagggggcaGccatcctgctcaggtgaggg	5	7	18	11	0	1	1	1	1	0	0	2	1	2	1	3	5	3	2	3	5	0	0			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:145535006G>C	ENST00000369304.3	+	15	2084	c.1909G>C	c.(1909-1911)Gcc>Ccc	p.A637P	ITGA10_ENST00000539363.1_Missense_Mutation_p.A494P|ITGA10_ENST00000538811.1_Missense_Mutation_p.A506P	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	637					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAGGGGGCAGCCATCCTGCT	0.562													49	159					0	0	0	0	C	145535006	G	C	145535006	3	2	65	1	0	0	0	0	1	0	0	0	7926	971	34	4	1967	4	ITGA10	1	145535006	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	74920791	145535006	103715615	6	12798											
CLK2	1196	broad.mit.edu	37	chr1	155240700	155240700	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtcgcttatgctttcggctCcgatagtgttcacggtaact	6	14	10	11	5	1	0	1	0	0	0	4	1	2	0	1	2	2	5	1	2	3	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:155240700C>T	ENST00000368361.4	-	2	384	c.69G>A	c.(67-69)cgG>cgA	p.R23R	CLK2_ENST00000361168.5_Silent_p.R23R|CLK2_ENST00000355560.4_Silent_p.R23R|CLK2_ENST00000536801.1_Silent_p.R23R			P49760	CLK2_HUMAN	CDC-like kinase 2	23						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R23R(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTTTCGGCTCCGATAGTGTT	0.572								Other conserved DNA damage response genes					59	145					0	0	0	0	T	155240700	C	T	155240700	2	4	65	1	0	0	0	0	0	0	0	1	3567	842	30	2		2	CLK2	1	155240700	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	9705694	155240700	94009921	7	12799											
LRRN2	10446	broad.mit.edu	37	chr1	204587388	204587388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taatgttgtagctgtgggttCcccgaggcaggcgggccaga	7	9	16	9	2	0	1	0	0	0	1	1	2	1	1	3	4	1	5	3	4	2	4			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:204587388C>A	ENST00000367175.1	-	1	3945	c.1733G>T	c.(1732-1734)gGa>gTa	p.G578V	LRRN2_ENST00000367177.3_Missense_Mutation_p.G578V|LRRN2_ENST00000367176.3_Missense_Mutation_p.G578V			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	578					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCTGTGGGTTCCCCGAGGCAG	0.647													15	53					1.02788e-11	1.09294e-11	1	0	A	204587388	C	A	204587388	3	1	65	1	0	0	0	0	1	0	0	0	9099	855	30	2	412	2	LRRN2	1	204587388	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	49346688	204587388	44663233	8	12800											
OR2W3	343171	broad.mit.edu	37	chr1	248059227	248059227	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtggtgtggagtgcctGcttctggctgtcatggccta	3	13	16	9	0	2	0	1	0	1	0	2	1	2	1	2	5	2	2	2	5	1	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:248059227G>T	ENST00000537741.1	+	3	596	c.339G>T	c.(337-339)ctG>ctT	p.L113L	OR2W3_ENST00000360358.3_Silent_p.L113L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGAGTGCCTGCTTCTGGCTG	0.567													49	94					1.32667e-27	1.48587e-27	1	0	T	248059227	G	T	248059227	2	4	65	1	0	0	0	0	0	0	0	1	11104	1306	46	4		4	OR2W3	1	248059227	Silent	SNP	G	TCGA-CN-4731-01A-01D-1434-08	43471839	248059227	1191394	9	12801											
OTOF	9381	broad.mit.edu	37	chr2	26717900	26717900	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaccacagggtccatgttCaagcccaccagctgccgggc	9	5	10	17	1	1	0	1	0	0	0	2	0	2	0	5	2	3	2	5	2	1	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:26717900C>T	ENST00000272371.2	-	9	933	c.807G>A	c.(805-807)ttG>ttA	p.L269L	OTOF_ENST00000403946.3_Silent_p.L269L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	269	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCATGTTCAAGCCCACCA	0.597													36	86					0	0	0	0	T	26717900	C	T	26717900	2	4	65	1	0	0	0	0	0	0	0	1	11374	825	29	2		2	OTOF	2	26717900	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08		26717900	216481473	10	12802											
ZFP36L2	678	broad.mit.edu	37	chr2	43452301	43452302	+	Frame_Shift_Ins	INS	-	-	T																															gctcgtccgcgttgtggatgINSaagtggcagcgcggcccata																										TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:43452301_43452302insT	ENST00000282388.3	-	2	934_935	c.641_642insA	c.(640-642)tatfs	p.Y214fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	214					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGTTGTGGATGAAGTGGCAGCG	0.693													11	21	---	---	---	---					T	43452302	-	T	43452301	7	5	65	1	0	1	1	0	0	0	0	0	17742	1281	45	0	846	0	ZFP36L2	2	43452301	Frame_Shift_Ins	INS	-	TCGA-CN-4731-01A-01D-1434-08	16734401	43452301	199747072	11	12803											
NRXN1	9378	broad.mit.edu	37	chr2	50463980	50463980	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaactgtccactcgcaccaAtacggcttctttctgaacag	11	10	7	13	2	2	2	0	1	2	1	4	2	3	2	2	1	3	2	2	1	4	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:50463980A>T	ENST00000404971.1	-	19	4952	c.3613T>A	c.(3613-3615)Ttg>Atg	p.L1205M	NRXN1_ENST00000406859.3_Missense_Mutation_p.L1165M|NRXN1_ENST00000401710.1_Missense_Mutation_p.L183M|NRXN1_ENST00000402717.3_Missense_Mutation_p.L1157M|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.L1165M|NRXN1_ENST00000342183.5_Missense_Mutation_p.L130M|NRXN1_ENST00000406316.2_Missense_Mutation_p.L1165M|NRXN1_ENST00000405472.3_Missense_Mutation_p.L1157M	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1165	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTCGCACCAATACGGCTTCT	0.438													27	74					0	0	0	0	T	50463980	A	T	50463980	3	4	65	1	0	0	0	0	1	0	0	0	10736	98	4	5	1054	5	NRXN1	2	50463980	Missense_Mutation	SNP	A	TCGA-CN-4731-01A-01D-1434-08	7011679	50463980	192735393	12	12804											
MAT2A	4144	broad.mit.edu	37	chr2	85769770	85769770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggaggaggtgccttttcagGaaaggattataccaaggtcg	11	10	14	6	1	1	0	1	0	0	0	2	4	1	4	2	6	2	0	2	6	4	4			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:85769770G>A	ENST00000306434.3	+	7	974	c.851G>A	c.(850-852)gGa>gAa	p.G284E	MAT2A_ENST00000409017.1_Missense_Mutation_p.G221E	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	284					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCCTTTTCAGGAAAGGATTAT	0.493													41	76					0	0	0	0	A	85769770	G	A	85769770	3	1	65	1	0	0	0	0	1	0	0	0	9399	1174	41	2	877	2	MAT2A	2	85769770	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	35305790	85769770	157429603	13	12805											
TEKT4	150483	broad.mit.edu	37	chr2	95539278	95539278	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaggaagccgagctcaTccggaacattcaggagctgc	10	6	11	14	2	3	0	3	0	0	0	4	4	4	3	3	3	5	2	3	3	2	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:95539278T>A	ENST00000295201.4	+	2	649	c.512T>A	c.(511-513)aTc>aAc	p.I171N	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	171					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCCGAGCTCATCCGGAACATT	0.607													31	63					0	0	0	0	A	95539278	T	A	95539278	3	1	65	1	0	0	0	0	1	0	0	0	15849	1435	50	5	518	5	TEKT4	2	95539278	Missense_Mutation	SNP	T	TCGA-CN-4731-01A-01D-1434-08	9769508	95539278	147660095	14	12806											
DBI	1622	broad.mit.edu	37	chr2	120128364	120128364	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggccaagtgggatgcctGgaatgagctgaaaggtaatt	13	8	14	6	0	0	2	0	2	0	0	0	4	0	4	2	4	2	2	2	4	5	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:120128364G>A	ENST00000542275.1	+	3	443	c.359G>A	c.(358-360)tGg>tAg	p.W120*	DBI_ENST00000535617.1_Nonsense_Mutation_p.W101*|DBI_ENST00000311521.4_Nonsense_Mutation_p.W76*|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000535757.1_Nonsense_Mutation_p.W76*|DBI_ENST00000355857.3_Nonsense_Mutation_p.W59*|DBI_ENST00000393103.2_Nonsense_Mutation_p.W60*|DBI_ENST00000409094.1_Nonsense_Mutation_p.W76*	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	59					transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						TGGGATGCCTGGAATGAGCTG	0.423													15	48					0	0	0	0	A	120128364	G	A	120128364	4	1	65	1	0	0	0	0	0	1	0	0	4284	1357	47	4	492	4	DBI	2	120128364	Nonsense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	24589086	120128364	123071009	15	12807											
R3HDM1	23518	broad.mit.edu	37	chr2	136418927	136418927	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttcattacaattcacatCtaaaccaaccactgccacaa	15	10	2	14	0	3	0	2	0	1	0	3	0	3	0	3	0	4	1	3	0	6	4			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:136418927C>T	ENST00000264160.4	+	18	2381	c.2011C>T	c.(2011-2013)Cta>Tta	p.L671L	R3HDM1_ENST00000409606.1_Silent_p.L672L|R3HDM1_ENST00000329971.3_Silent_p.L542L|R3HDM1_ENST00000409478.1_Silent_p.L543L|R3HDM1_ENST00000410054.1_Silent_p.L616L	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	671							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CAATTCACATCTAAACCAACC	0.458													55	110					0	0	0	0	T	136418927	C	T	136418927	2	4	65	1	0	0	0	0	0	0	0	1	12969	912	32	2		2	R3HDM1	2	136418927	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	16290563	136418927	106780446	16	12808											
PLA2R1	22925	broad.mit.edu	37	chr2	160843742	160843742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggccatctctcttcataCtctgctttttcctgattttc	6	18	5	12	0	4	1	1	1	3	0	7	1	5	1	2	1	2	1	2	1	2	6			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:160843742C>A	ENST00000283243.7	-	12	2168	c.1962G>T	c.(1960-1962)gaG>gaT	p.E654D	PLA2R1_ENST00000392771.1_Missense_Mutation_p.E654D	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	654					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCTCTTCATACTCTGCTTTTT	0.502													57	112					2.12129e-23	2.36011e-23	1	0	A	160843742	C	A	160843742	3	1	65	1	0	0	0	0	1	0	0	0	12082	564	20	4	2513	4	PLA2R1	2	160843742	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	24424815	160843742	82355631	17	12809											
GRB14	2888	broad.mit.edu	37	chr2	165378524	165378524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtagaaaaatataaaccaGatcttcttagaaaaaagtaa	22	10	5	4	0	2	3	0	0	2	3	2	3	2	3	1	0	1	2	1	0	12	7			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:165378524G>C	ENST00000263915.3	-	6	1320	c.782C>G	c.(781-783)tCt>tGt	p.S261C	GRB14_ENST00000543549.1_Missense_Mutation_p.S174C	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	261	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ATATAAACCAGATCTTCTTAG	0.313													40	107					0	0	0	0	C	165378524	G	C	165378524	3	2	65	1	0	0	0	0	1	0	0	0	6807	942	33	2	876	2	GRB14	2	165378524	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	4534782	165378524	77820849	18	12810											
XIRP2	129446	broad.mit.edu	37	chr2	168067394	168067394	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggggtgactgccgcagcTtctctgctaatgtaagctgc	7	10	12	12	1	1	1	0	1	1	0	2	1	1	1	2	2	5	5	2	2	2	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:168067394T>A	ENST00000409195.1	+	4	801	c.712T>A	c.(712-714)Ttc>Atc	p.F238I	XIRP2_ENST00000409756.2_Missense_Mutation_p.F238I|XIRP2_ENST00000409728.1_Missense_Mutation_p.F271I|XIRP2_ENST00000295237.9_Missense_Mutation_p.F238I|XIRP2_ENST00000409043.1_Missense_Mutation_p.F238I|XIRP2_ENST00000409605.1_Missense_Mutation_p.F16I|XIRP2_ENST00000409273.1_Missense_Mutation_p.F16I|XIRP2_ENST00000420519.1_Missense_Mutation_p.F271I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	63					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						CTGCCGCAGCTTCTCTGCTAA	0.512													32	99					0	0	0	0	A	168067394	T	A	168067394	3	1	65	1	0	0	0	0	1	0	0	0	17526	1609	56	5	722	5	XIRP2	2	168067394	Missense_Mutation	SNP	T	TCGA-CN-4731-01A-01D-1434-08	2688870	168067394	75131979	19	12811											
BARD1	580	broad.mit.edu	37	chr2	215645700	215645700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttttgcagaccttctcagGagtcactacttcattcctgc	8	15	6	12	0	3	1	3	0	1	1	5	2	4	2	2	1	3	1	2	1	1	6			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:215645700G>T	ENST00000260947.4	-	4	1032	c.898C>A	c.(898-900)Cct>Act	p.P300T	BARD1_ENST00000449967.2_Missense_Mutation_p.P156T|BARD1_ENST00000471787.1_5'UTR	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	300					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACCTTCTCAGGAGTCACTACT	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				46	138					3.54909e-21	3.89704e-21	1	0	T	215645700	G	T	215645700	3	4	65	1	0	0	0	0	1	0	0	0	1316	1174	41	2	1467	2	BARD1	2	215645700	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	47578306	215645700	27553673	20	12812											
TGFBR2	7048	broad.mit.edu	37	chr3	30691918	30691920	+	In_Frame_Del	DEL	TGA	TGA	-																															ttcatgtgttcctgtagctcTgatgagtgcaatgacaacat																										TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:30691918_30691920delTGA	ENST00000295754.5	+	3	802_804	c.420_422delTGA	c.(418-423)tct>tc	p.SD140del	TGFBR2_ENST00000359013.4_In_Frame_Del_p.SD165del	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	140					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCTGTAGCTCTGATGAGTGCAAT	0.419													61	101	---	---	---	---					-	30691920	TGA	-	30691918	7	5	65	1	0	1	0	1	0	0	0	0	15916	1567	55	0	509	0	TGFBR2	3	30691918	In_Frame_Del	DEL	TGA	TCGA-CN-4731-01A-01D-1434-08		30691918	167330512	21	12813											
CNOT10	25904	broad.mit.edu	37	chr3	32750219	32750219	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgttgaaaacagcatgttgTactataatcaagcagtcatt	15	13	7	6	0	2	1	2	1	0	0	2	1	2	1	0	0	4	5	0	0	6	6			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:32750219T>A	ENST00000328834.5	+	4	653	c.337T>A	c.(337-339)Tac>Aac	p.Y113N	CNOT10_ENST00000538368.1_5'UTR|CNOT10_ENST00000331889.6_Missense_Mutation_p.Y113N|CNOT10_ENST00000454516.2_Missense_Mutation_p.Y173N	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	113					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	p.Y113H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CAGCATGTTGTACTATAATCA	0.348													49	47					0	0	0	0	A	32750219	T	A	32750219	3	1	65	1	0	0	0	0	1	0	0	0	3648	1638	57	5	351	5	CNOT10	3	32750219	Missense_Mutation	SNP	T	TCGA-CN-4731-01A-01D-1434-08	2058301	32750219	165272211	22	12814											
LIMD1	8994	broad.mit.edu	37	chr3	45636953	45636953	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagtggggtgacaaaccAggagtgtcccccagcatcgg	11	5	13	12	1	0	1	0	1	0	0	2	2	1	2	4	4	2	1	4	4	2	0			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:45636953A>G	ENST00000273317.4	+	1	603	c.582A>G	c.(580-582)ccA>ccG	p.P194P	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Silent_p.P194P	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	194					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GTGACAAACCAGGAGTGTCCC	0.607													48	49					0	0	0	0	G	45636953	A	G	45636953	2	3	65	1	0	0	0	0	0	0	0	1	8852	175	7	5		5	LIMD1	3	45636953	Silent	SNP	A	TCGA-CN-4731-01A-01D-1434-08	12886734	45636953	152385477	23	12815											
MAP4	4134	broad.mit.edu	37	chr3	47951284	47951284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcacatgcccttcatcgaTccctgcttcatttttcatgg	7	16	5	13	1	4	0	4	0	0	0	6	1	5	0	2	1	2	1	2	1	1	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:47951284T>C	ENST00000426837.2	-	10	4765	c.4678A>G	c.(4678-4680)Atc>Gtc	p.I1560V	MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.I150V|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	930					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCTTCATCGATCCCTGCTTCA	0.428													3	106					0	0	0	0	C	47951284	T	C	47951284	3	2	65	1	0	0	0	0	1	0	0	0	9327	1435	50	5	2414	5	MAP4	3	47951284	Missense_Mutation	SNP	T	TCGA-CN-4731-01A-01D-1434-08	2314331	47951284	150071146	24	12816											
C3orf52	79669	broad.mit.edu	37	chr3	111812254	111812260	+	Frame_Shift_Del	DEL	AAGATGC	AAGATGC	-																															tgtaataagaatgtggttggAagatgcaaactgtggatgat																										TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:111812254_111812260delAAGATGC	ENST00000264848.5	+	2	245_251	c.186_192delAAGATGC	c.(184-192)ggfs	p.GRC62fs	C3orf52_ENST00000430855.1_Frame_Shift_Del_p.GRC62fs|C3orf52_ENST00000431717.2_Frame_Shift_Del_p.GRC62fs	NM_024616.2	NP_078892.2	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	62						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						ATGTGGTTGGAAGATGCAAACTGTGGA	0.435													46	170	---	---	---	---					-	111812260	AAGATGC	-	111812254	7	5	65	1	0	1	0	1	0	0	0	0	2252	233	9	0	192	0	C3orf52	3	111812254	Frame_Shift_Del	DEL	AAGATGC	TCGA-CN-4731-01A-01D-1434-08	63860970	111812254	86210176	25	12817											
DTX3L	151636	broad.mit.edu	37	chr3	122287599	122287599	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagggacagctgcatttcTccttctgaaccagaaaccaa	13	8	9	11	0	2	3	0	1	2	2	3	5	2	4	3	1	4	2	3	1	3	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:122287599T>A	ENST00000296161.4	+	3	852	c.663T>A	c.(661-663)tcT>tcA	p.S221S	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	221					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GCTGCATTTCTCCTTCTGAAC	0.413													26	47					0	0	0	0	A	122287599	T	A	122287599	2	1	65	1	0	0	0	0	0	0	0	1	4832	1538	54	5		5	DTX3L	3	122287599	Silent	SNP	T	TCGA-CN-4731-01A-01D-1434-08	10475345	122287599	75734831	26	12818											
DNAJC13	23317	broad.mit.edu	37	chr3	132215495	132215495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagcatcctcttcaacCgtcataaagaaggtaagatg	15	8	8	10	1	3	3	2	0	1	3	4	3	4	3	2	1	2	2	2	1	5	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:132215495C>T	ENST00000260818.6	+	36	4392	c.4144C>T	c.(4144-4146)Cgt>Tgt	p.R1382C		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1382							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CCTCTTCAACCGTCATAAAGA	0.348													22	170					0	0	0	0	T	132215495	C	T	132215495	3	4	65	1	0	0	0	0	1	0	0	0	4668	652	23	1	4282	1	DNAJC13	3	132215495	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	9927896	132215495	65806935	27	12819											
PPP2R3A	5523	broad.mit.edu	37	chr3	135797293	135797293	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagaaaaagcaactttttgCaagtatgcctttcattagaa	16	13	6	6	0	1	2	1	0	0	2	1	2	1	2	1	0	4	3	1	0	8	6			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:135797293C>A	ENST00000264977.3	+	7	3246	c.2629C>A	c.(2629-2631)Caa>Aaa	p.Q877K	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.Q141K|PPP2R3A_ENST00000492624.2_Missense_Mutation_p.Q141K|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.Q256K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	877					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAACTTTTTGCAAGTATGCCT	0.318													22	80					0.00229938	0.00234118	1	0	A	135797293	C	A	135797293	3	1	65	1	0	0	0	0	1	0	0	0	12464	711	25	4	2787	4	PPP2R3A	3	135797293	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	3581798	135797293	62225137	28	12820											
ARL14	80117	broad.mit.edu	37	chr3	160395542	160395542	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctgactgctgaggacatCaccagaatgttcaaagtgaa	13	9	10	9	0	3	4	2	3	1	1	3	5	3	5	1	1	1	3	1	1	3	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:160395542C>T	ENST00000320767.2	+	1	595	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	136					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			CTGAGGACATCACCAGAATGT	0.488													34	99					0	0	0	0	T	160395542	C	T	160395542	2	4	65	1	0	0	0	0	0	0	0	1	932	816	29	2		2	ARL14	3	160395542	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	24598249	160395542	37626888	29	12821											
PLD1	5337	broad.mit.edu	37	chr3	171406608	171406608	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggtcaatgatgacaagcTtctcatggtgagcccacaaa	13	10	9	9	0	2	3	2	3	1	0	3	3	2	3	1	2	2	1	1	2	3	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:171406608T>C	ENST00000356327.5	-	14	1467	c.1397A>G	c.(1396-1398)aAg>aGg	p.K466R	PLD1_ENST00000351298.4_Missense_Mutation_p.K466R|PLD1_ENST00000340989.4_Missense_Mutation_p.K466R|PLD1_ENST00000342215.6_Missense_Mutation_p.K466R	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	466	Catalytic.|PLD phosphodiesterase 1.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GATGACAAGCTTCTCATGGTG	0.498													20	109					0	0	0	0	C	171406608	T	C	171406608	3	2	65	1	0	0	0	0	1	0	0	0	12117	1609	56	5	1883	5	PLD1	3	171406608	Missense_Mutation	SNP	T	TCGA-CN-4731-01A-01D-1434-08	11011066	171406608	26615822	30	12822											
NLGN1	22871	broad.mit.edu	37	chr3	173993199	173993199	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actagtgaaaacattggattCtttggtggtgaccccttaag	11	13	10	7	0	1	2	0	2	1	0	1	3	1	3	2	3	1	0	2	3	4	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:173993199C>T	ENST00000457714.1	+	5	1170	c.741C>T	c.(739-741)ttC>ttT	p.F247F	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Silent_p.F287F|NLGN1_ENST00000361589.4_Silent_p.F247F|NLGN1_ENST00000545397.1_Silent_p.F247F	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	264					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.F247L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACATTGGATTCTTTGGTGGTG	0.438													50	205					0	0	0	0	T	173993199	C	T	173993199	2	4	65	1	0	0	0	0	0	0	0	1	10531	912	32	2		2	NLGN1	3	173993199	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	2586591	173993199	24029231	31	12823											
OSTN	344901	broad.mit.edu	37	chr3	190930421	190930421	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtagatgtaacaacaacaGaggtaatggaaactagctta	18	8	9	6	0	0	2	0	0	0	2	0	3	0	3	0	2	5	4	0	2	8	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:190930421G>C	ENST00000445281.1	+	2	167	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	OSTN_ENST00000339051.1_Missense_Mutation_p.E34Q			P61366	OSTN_HUMAN	osteocrin	34					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		AACAACAACAGAGGTAATGGA	0.348													24	61					0	0	0	0	C	190930421	G	C	190930421	3	2	65	1	0	0	0	0	1	0	0	0	11370	943	33	2	102	2	OSTN	3	190930421	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	16937222	190930421	7092009	32	12824											
ZFYVE28	57732	broad.mit.edu	37	chr4	2273119	2273119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagaagccacaggcctcGtctggcacccactccggggg	7	5	14	15	2	1	1	0	0	1	1	3	1	2	1	4	4	2	2	4	4	1	0	rs146945400		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:2273119G>T	ENST00000290974.2	-	12	2790	c.2451C>A	c.(2449-2451)gaC>gaA	p.D817E	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.D787E|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.D747E|ZFYVE28_ENST00000508471.1_Missense_Mutation_p.D122E	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	817					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CACAGGCCTCGTCTGGCACCC	0.662													6	16					1.49906e-05	1.55458e-05	1	0	T	2273119	G	T	2273119	3	4	65	1	0	0	0	0	1	0	0	0	17765	1136	40	3	220	3	ZFYVE28	4	2273119	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08		2273119	188881157	33	12825											
TADA2B	93624	broad.mit.edu	37	chr4	7056307	7056307	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgaagctgaggccgctgtaCcagttcatgtcatgcaagga	10	9	12	10	1	2	2	2	2	0	0	2	3	2	3	2	2	3	5	2	2	3	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:7056307C>G	ENST00000310074.7	+	2	978	c.789C>G	c.(787-789)taC>taG	p.Y263*	TADA2B_ENST00000515646.1_Nonsense_Mutation_p.Y171*|TADA2B_ENST00000512388.1_Nonsense_Mutation_p.Y188*	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GGCCGCTGTACCAGTTCATGT	0.527													15	56					0	0	0	0	G	7056307	C	G	7056307	4	3	65	1	0	0	0	0	0	1	0	0	15602	518	18	4	795	4	TADA2B	4	7056307	Nonsense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	4783188	7056307	184097969	34	12826											
PHOX2B	8929	broad.mit.edu	37	chr4	41749528	41749528	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttctcgttgaggccgccGtggtccgtgaagagtttgta	5	12	14	10	5	1	3	0	2	1	1	3	3	2	3	3	2	0	4	3	2	2	4			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:41749528G>A	ENST00000226382.2	-	2	626	c.267C>T	c.(265-267)caC>caT	p.H89H		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	89					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TGAGGCCGCCGTGGTCCGTGA	0.577			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				53	147					0	0	0	0	A	41749528	G	A	41749528	2	1	65	1	0	0	0	0	0	0	0	1	11931	1136	40	1		1	PHOX2B	4	41749528	Silent	SNP	G	TCGA-CN-4731-01A-01D-1434-08	34693221	41749528	149404748	35	12827											
TXK	7294	broad.mit.edu	37	chr4	48096216	48096216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgttttatggcagcctccGtacttctacaatcaagaaaa	14	12	6	9	1	2	1	1	0	1	1	3	1	3	1	2	1	3	3	2	1	8	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:48096216G>T	ENST00000264316.4	-	8	672	c.587C>A	c.(586-588)aCg>aAg	p.T196K	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	196	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GGCAGCCTCCGTACTTCTACA	0.373													20	63					1.01871e-10	1.07638e-10	1	0	T	48096216	G	T	48096216	3	4	65	1	0	0	0	0	1	0	0	0	16882	1145	40	3	1028	3	TXK	4	48096216	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	6346688	48096216	143058060	36	12828											
ANK2	287	broad.mit.edu	37	chr4	114264272	114264272	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtttttttgccttcaaaGaaaatagacttcctctattt	11	18	4	8	0	3	2	2	0	1	2	4	2	4	2	2	0	1	1	2	0	5	8			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:114264272G>T	ENST00000357077.4	+	34	4275	c.4222G>T	c.(4222-4224)Gaa>Taa	p.E1408*	ANK2_ENST00000509550.1_Nonsense_Mutation_p.E584*|ANK2_ENST00000510275.2_Nonsense_Mutation_p.E60*|ANK2_ENST00000506722.1_Nonsense_Mutation_p.E1399*|ANK2_ENST00000394537.3_Nonsense_Mutation_p.E1408*|ANK2_ENST00000264366.6_Nonsense_Mutation_p.E1375*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1375					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCCTTCAAAGAAAATAGACT	0.338													42	91					1.57019e-19	1.70189e-19	1	0	T	114264272	G	T	114264272	4	4	65	1	0	0	0	0	0	1	0	0	621	943	33	2	4421	2	ANK2	4	114264272	Nonsense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	66168056	114264272	76890004	37	12829											
ADAD1	132612	broad.mit.edu	37	chr4	123305081	123305081	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagctcttgatgagcttctAcaactggatgaacctgaacc	11	12	8	10	0	2	4	0	4	2	0	2	5	2	5	2	1	6	2	2	1	5	4			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:123305081A>G	ENST00000296513.2	+	5	674	c.489A>G	c.(487-489)ctA>ctG	p.L163L	ADAD1_ENST00000388725.2_Silent_p.L145L|ADAD1_ENST00000388724.2_Silent_p.L163L|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	163	DRBM.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATGAGCTTCTACAACTGGATG	0.358													28	84					0	0	0	0	G	123305081	A	G	123305081	2	3	65	1	0	0	0	0	0	0	0	1	231	378	14	5		5	ADAD1	4	123305081	Silent	SNP	A	TCGA-CN-4731-01A-01D-1434-08	9040809	123305081	67849195	38	12830											
FAT1	2195	broad.mit.edu	37	chr4	187549454	187549454	+	Frame_Shift_Del	DEL	G	G	-																															accacggggcgtggtcattcGtgtcgctgacattgaccaca																										TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:187549454delG	ENST00000441802.2	-	9	4873	c.4664delC	c.(4663-4665)agfs	p.T1555fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1555	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGGTCATTCGTGTCGCTGAC	0.502										HNSCC(5;0.00058)			15	24	---	---	---	---					-	187549454	G	-	187549454	7	5	65	1	0	1	0	1	0	0	0	0	5734	1145	40	0	9178	0	FAT1	4	187549454	Frame_Shift_Del	DEL	G	TCGA-CN-4731-01A-01D-1434-08	64244373	187549454	3604822	39	12831											
FAT1	2195	broad.mit.edu	37	chr4	187557332	187557333	+	Frame_Shift_Ins	INS	-	-	A																															ttgggcttggagatccattcINSaatatggagtctggtggttg																										TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:187557332_187557333insA	ENST00000441802.2	-	6	4238_4239	c.4029_4030insT	c.(4027-4032)ataatgfs	p.M1344fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1344	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGATCCATTCAATATGGAGTC	0.441										HNSCC(5;0.00058)			35	81	---	---	---	---					A	187557333	-	A	187557332	7	5	65	1	0	1	1	0	0	0	0	0	5734	835	29	0	9824	0	FAT1	4	187557332	Frame_Shift_Ins	INS	-	TCGA-CN-4731-01A-01D-1434-08	7878	187557332	3596944	40	12832											
ZDHHC11	79844	broad.mit.edu	37	chr5	801279	801279	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgttgtttcttgttgcagCctgtttgcaatattcagaaa	8	18	8	7	0	3	1	1	0	2	1	3	1	3	1	1	0	3	6	1	0	3	7			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:801279C>T	ENST00000283441.8	-	12	1565	c.1181_splice	c.e12-1	p.G394_splice	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Splice_Site_p.G394_splice	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	394						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTTGTTGCAGCCTGTTTGCAA	0.383													33	174					0	0	0	0	T	801279	C	T	801279	5	4	65	1	0	0	0	0	0	0	1	0	17696	753	26	4	60	4	ZDHHC11	5	801279	Splice_Site	SNP	C	TCGA-CN-4731-01A-01D-1434-08		801279	180113981	41	12833											
IRX2	153572	broad.mit.edu	37	chr5	2749083	2749083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcccgattcgcacagggggtCcccggcgcggcacggaagct	6	4	16	15	6	0	0	0	0	0	0	2	2	1	1	3	5	1	3	3	5	1	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:2749083C>T	ENST00000382611.6	-	3	987	c.739G>A	c.(739-741)Gac>Aac	p.D247N	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.D247N	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	247						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CACAGGGGGTCCCCGGCGCGG	0.706													22	118					0	0	0	0	T	2749083	C	T	2749083	3	4	65	1	0	0	0	0	1	0	0	0	7897	855	30	2	684	2	IRX2	5	2749083	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	1947804	2749083	178166177	42	12834											
FAM134B	54463	broad.mit.edu	37	chr5	16616784	16616784	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacagcaggttggcagcgacGaagccgagcaggctccgcag	11	3	15	12	4	0	0	0	0	0	0	1	3	1	0	2	3	5	6	2	3	2	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:16616784G>A	ENST00000306320.9	-	1	383	c.297C>T	c.(295-297)ttC>ttT	p.F99F	RP11-260E18.1_ENST00000499131.1_RNA|FAM134B_ENST00000509048.1_5'UTR	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	99					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TGGCAGCGACGAAGCCGAGCA	0.726													7	31					0	0	0	0	A	16616784	G	A	16616784	2	1	65	1	0	0	0	0	0	0	0	1	5487	1049	37	1		1	FAM134B	5	16616784	Silent	SNP	G	TCGA-CN-4731-01A-01D-1434-08	13867701	16616784	164298476	43	12835											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576201	33576201	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtgcagagccgtggccGtttgtgagctgcttgtaatt	6	13	14	8	2	0	2	0	1	0	1	0	2	0	2	2	1	4	5	2	1	1	4	rs141717162		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:33576201G>A	ENST00000504830.1	-	19	4265	c.3930C>T	c.(3928-3930)aaC>aaT	p.N1310N	ADAMTS12_ENST00000352040.3_Silent_p.N1225N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1310	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGCCGTGGCCGTTTGTGAGCT	0.468										HNSCC(64;0.19)			77	396					0	0	0	0	A	33576201	G	A	33576201	2	1	65	1	0	0	0	0	0	0	0	1	257	1136	40	1		1	ADAMTS12	5	33576201	Silent	SNP	G	TCGA-CN-4731-01A-01D-1434-08	16959417	33576201	147339059	44	12836											
RAPGEF6	51735	broad.mit.edu	37	chr5	130840396	130840396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccataacaatttctccctCttcctcaactttatgggtat	10	16	3	12	0	3	0	1	0	2	0	5	0	4	0	3	1	3	1	3	1	6	7			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:130840396C>T	ENST00000509018.1	-	11	1382	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E393K|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E393K|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E393K|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E393K|FNIP1_ENST00000514667.1_Missense_Mutation_p.E443K|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E393K|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E108K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	393					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATTTCTCCCTCTTCCTCAACT	0.413													35	87					0	0	0	0	T	130840396	C	T	130840396	3	4	65	1	0	0	0	0	1	0	0	0	13130	922	32	2	4186	2	RAPGEF6	5	130840396	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	97264195	130840396	50074864	45	12837											
GRXCR2	643226	broad.mit.edu	37	chr5	145252398	145252398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagggtattcctcctttGgtgactctaattcctgccca	6	15	9	11	0	1	2	0	2	1	0	4	2	4	2	4	2	1	1	4	2	2	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:145252398G>A	ENST00000377976.1	-	1	133	c.134C>T	c.(133-135)cCa>cTa	p.P45L		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	45										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TTCCTCCTTTGGTGACTCTAA	0.498													74	108					0	0	0	0	A	145252398	G	A	145252398	3	1	65	1	0	0	0	0	1	0	0	0	6863	1348	47	4	624	4	GRXCR2	5	145252398	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	14412002	145252398	35662862	46	12838											
FAT2	2196	broad.mit.edu	37	chr5	150924382	150924382	+	Frame_Shift_Del	DEL	A	A	-																															aattcatatgtaacagccccAtttgtccccaagtcctcatc																										TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:150924382delA	ENST00000261800.5	-	9	6318	c.6306delT	c.(6304-6306)aafs	p.N2102fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2102	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAACAGCCCCATTTGTCCCCA	0.428													86	90	---	---	---	---					-	150924382	A	-	150924382	7	5	65	1	0	1	0	1	0	0	0	0	5735	214	8	0	6803	0	FAT2	5	150924382	Frame_Shift_Del	DEL	A	TCGA-CN-4731-01A-01D-1434-08	5671984	150924382	29990878	47	12839											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056369	26056369	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccagaagcaccggtgcctttCgtttgcaccagagtgccctt	7	10	10	14	2	0	2	0	0	0	2	1	2	0	2	5	1	4	3	5	1	1	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:26056369C>G	ENST00000343677.2	-	1	330	c.288G>C	c.(286-288)acG>acC	p.T96T		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	96	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGGTGCCTTTCGTTTGCACCA	0.532													50	241					0	0	0	0	G	26056369	C	G	26056369	2	3	65	1	0	0	0	0	0	0	0	1	7174	871	31	3		3	HIST1H1C	6	26056369	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08		26056369	145058698	48	12840											
PGBD1	84547	broad.mit.edu	37	chr6	28269361	28269361	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgtggtacaaccacacAgggttatctggtttggtttg	7	15	13	6	0	1	0	0	0	1	0	1	0	1	0	1	5	2	4	1	5	3	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:28269361A>T	ENST00000405948.2	+	7	2150	c.1730A>T	c.(1729-1731)cAg>cTg	p.Q577L	PGBD1_ENST00000259883.3_Missense_Mutation_p.Q577L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	577					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ACAACCACACAGGGTTATCTG	0.388													87	136					0	0	0	0	T	28269361	A	T	28269361	3	4	65	1	0	0	0	0	1	0	0	0	11852	188	7	5	1752	5	PGBD1	6	28269361	Missense_Mutation	SNP	A	TCGA-CN-4731-01A-01D-1434-08	2212992	28269361	142845706	49	12841											
TULP1	7287	broad.mit.edu	37	chr6	35466208	35466208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggcgtcctccgccaCgcggccgaactgcagcacga	8	4	14	15	6	0	1	0	1	0	0	2	3	2	1	4	3	3	2	4	3	2	0			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:35466208C>T	ENST00000229771.6	-	15	1604	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	TULP1_ENST00000322263.4_Missense_Mutation_p.V456M	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	509					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCTCCGCCACGCGGCCGAAC	0.667													10	40					0	0	0	0	T	35466208	C	T	35466208	3	4	65	1	0	0	0	0	1	0	0	0	16869	536	19	1	107	1	TULP1	6	35466208	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	7196847	35466208	135648859	50	12842											
AARS2	57505	broad.mit.edu	37	chr6	44275034	44275034	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagagatgcagacactgAgtgtgcggatgtggtcagcc	10	8	14	9	1	2	3	2	1	0	2	2	5	2	4	1	2	3	1	1	2	0	0			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:44275034A>T	ENST00000244571.4	-	6	994	c.992T>A	c.(991-993)cTc>cAc	p.L331H	TMEM151B_ENST00000438774.2_3'UTR	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	331					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GCAGACACTGAGTGTGCGGAT	0.642													11	23					0	0	0	0	T	44275034	A	T	44275034	3	4	65	1	0	0	0	0	1	0	0	0	20	304	11	5	2033	5	AARS2	6	44275034	Missense_Mutation	SNP	A	TCGA-CN-4731-01A-01D-1434-08	8808826	44275034	126840033	51	12843											
TINAG	27283	broad.mit.edu	37	chr6	54254654	54254654	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaggattcttcgaggagtAaatgagtccgacattgaaaa	14	11	10	6	2	2	2	1	2	1	0	4	6	3	4	1	2	0	1	1	2	4	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:54254654A>G	ENST00000259782.4	+	11	1458	c.1362A>G	c.(1360-1362)gtA>gtG	p.V454V		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	454					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTCGAGGAGTAAATGAGTCCG	0.403													7	274					0	0	0	0	G	54254654	A	G	54254654	2	3	65	1	0	0	0	0	0	0	0	1	16015	349	13	5		5	TINAG	6	54254654	Silent	SNP	A	TCGA-CN-4731-01A-01D-1434-08	9979620	54254654	116860413	52	12844											
DST	667	broad.mit.edu	37	chr6	56394429	56394429	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgacttttctcttgaatCtcaatgtaccatacttgaga	10	16	6	9	0	2	3	1	3	2	1	4	4	2	3	1	0	2	1	1	0	4	6			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:56394429C>T	ENST00000370754.5	-	66	17318	c.17319G>A	c.(17317-17319)gaG>gaA	p.E5773E	DST_ENST00000244364.6_Silent_p.E3181E|DST_ENST00000340834.4_5'UTR|DST_ENST00000421834.2_Silent_p.E3507E|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Silent_p.E5269E|DST_ENST00000370769.4_Silent_p.E5595E			Q03001	DYST_HUMAN	dystonin	5593					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTCTTGAATCTCAATGTACC	0.433													74	215					0	0	0	0	T	56394429	C	T	56394429	2	4	65	1	0	0	0	0	0	0	0	1	4819	912	32	2		2	DST	6	56394429	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	2139775	56394429	114720638	53	12845											
DDX43	55510	broad.mit.edu	37	chr6	74116174	74116174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agacattgtgttatttaatgCctggatttattcatctggtc	9	18	8	6	0	2	1	1	0	1	1	3	2	2	2	1	2	1	1	1	2	3	7			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:74116174C>T	ENST00000370336.4	+	7	1053	c.895C>T	c.(895-897)Cct>Tct	p.P299S	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	299	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTATTTAATGCCTGGATTTAT	0.378													33	87					0	0	0	0	T	74116174	C	T	74116174	3	4	65	1	0	0	0	0	1	0	0	0	4395	739	26	4	921	4	DDX43	6	74116174	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	17721745	74116174	96998893	54	12846											
LAMA2	3908	broad.mit.edu	37	chr6	129674411	129674411	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtgccctgtgaccctgtCacaggattctgcacgtgccg	5	10	11	15	2	2	1	1	1	1	0	2	2	2	2	4	1	3	1	4	1	0	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:129674411C>T	ENST00000421865.2	+	32	4675	c.4626C>T	c.(4624-4626)gtC>gtT	p.V1542V		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1542	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTGACCCTGTCACAGGATTCT	0.597													60	73					0	0	0	0	T	129674411	C	T	129674411	2	4	65	1	0	0	0	0	0	0	0	1	8659	813	29	2		2	LAMA2	6	129674411	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	55558237	129674411	41440656	55	12847											
STXBP5	134957	broad.mit.edu	37	chr6	147685192	147685192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgccccttaccaatatgCggatagccagaacgttctgc	10	10	8	13	2	1	1	0	0	1	1	1	2	1	2	4	1	6	1	4	1	5	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:147685192C>T	ENST00000367481.3	+	23	2971	c.2863C>T	c.(2863-2865)Cgg>Tgg	p.R955W	STXBP5_ENST00000321680.6_Missense_Mutation_p.R991W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W|STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	991					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.R955W(1)|p.R991W(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TACCAATATGCGGATAGCCAG	0.363													6	370					0	0	0	0	T	147685192	C	T	147685192	3	4	65	1	0	0	0	0	1	0	0	0	15446	759	27	1	3069	1	STXBP5	6	147685192	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	18010781	147685192	23429875	56	12848											
CRHR2	1395	broad.mit.edu	37	chr7	30704714	30704714	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcgtgcacttcatggtcaAcgagctgcagcaggaaccac	10	8	10	13	2	3	0	2	0	1	0	4	2	3	1	1	2	6	4	1	2	2	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr7:30704714A>G	ENST00000471646.1	-	5	932	c.515T>C	c.(514-516)gTt>gCt	p.V172A	CRHR2_ENST00000506074.2_Missense_Mutation_p.V172A|CRHR2_ENST00000348438.4_Missense_Mutation_p.V199A|CRHR2_ENST00000341843.4_Missense_Mutation_p.V158A	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	172					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCATGGTCAACGAGCTGCAG	0.572													4	99					0	0	0	0	G	30704714	A	G	30704714	3	3	65	1	0	0	0	0	1	0	0	0	3902	43	2	5	752	5	CRHR2	7	30704714	Missense_Mutation	SNP	A	TCGA-CN-4731-01A-01D-1434-08		30704714	128433949	57	12849											
GNAT3	346562	broad.mit.edu	37	chr7	80091853	80091853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaggaccatgtcataggCactaagtgcagcacaaaata	16	6	9	10	1	1	0	1	0	0	0	1	2	1	1	1	2	2	3	1	2	5	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr7:80091853C>A	ENST00000398291.3	-	6	778	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	229					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						ATGTCATAGGCACTAAGTGCA	0.398													8	112					2.17888e-05	2.24571e-05	1	0	A	80091853	C	A	80091853	3	1	65	1	0	0	0	0	1	0	0	0	6564	710	25	4	389	4	GNAT3	7	80091853	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	49387139	80091853	79046810	58	12850											
PIP	5304	broad.mit.edu	37	chr7	142836666	142836666	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaattaggcatctgcccTgatgatgctgctgtaatccc	8	11	11	11	1	1	2	0	2	1	0	2	3	2	3	2	2	3	4	2	2	3	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr7:142836666T>G	ENST00000291009.3	+	4	412	c.372T>G	c.(370-372)ccT>ccG	p.P124P		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	124						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GCATCTGCCCTGATGATGCTG	0.468													104	150					0	0	0	0	G	142836666	T	G	142836666	2	3	65	1	0	0	0	0	0	0	0	1	12007	1567	55	5		5	PIP	7	142836666	Silent	SNP	T	TCGA-CN-4731-01A-01D-1434-08	62744813	142836666	16301997	59	12851											
ADRA1A	148	broad.mit.edu	37	chr8	26722304	26722304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttgacgatgtagtagtgCgtgactgagtgcaggtgtcg	8	11	17	5	3	0	3	0	3	0	0	1	4	0	3	0	2	2	4	0	2	2	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:26722304C>T	ENST00000380573.3	-	2	1206	c.183G>A	c.(181-183)acG>acA	p.T61T	ADRA1A_ENST00000354550.4_Silent_p.T61T|ADRA1A_ENST00000380582.3_Silent_p.T61T|ADRA1A_ENST00000380586.1_Silent_p.T61T|ADRA1A_ENST00000276393.4_Silent_p.T61T|ADRA1A_ENST00000358857.5_Silent_p.T61T|ADRA1A_ENST00000380581.2_Silent_p.T61T|ADRA1A_ENST00000380572.3_Silent_p.T61T|ADRA1A_ENST00000380587.1_Silent_p.T61T|ADRA1A_ENST00000519229.1_Silent_p.T61T			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	61					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGTAGTAGTGCGTGACTGAGT	0.607													9	550					0	0	0	0	T	26722304	C	T	26722304	2	4	65	1	0	0	0	0	0	0	0	1	334	755	27	1		1	ADRA1A	8	26722304	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08		26722304	119641718	60	12852											
HGSNAT	138050	broad.mit.edu	37	chr8	43046738	43046738	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagtccctgggtgccctaCgtaagcgaacccctgggggt	6	7	14	14	2	0	0	0	0	0	0	1	1	1	0	5	3	4	1	5	3	3	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:43046738C>A	ENST00000458501.2	+	12	1334	c.1334_splice	c.e12+1	p.T445_splice	HGSNAT_ENST00000379644.4_Splice_Site_p.T417_splice|HGSNAT_ENST00000521576.1_Splice_Site_p.T134_splice|HGSNAT_ENST00000297798.7_Splice_Site_p.T149_splice			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	445					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGGTGCCCTACGTAAGCGAAC	0.597													38	174					5.78141e-17	6.22614e-17	1	0	A	43046738	C	A	43046738	5	1	65	1	0	0	0	0	0	0	1	0	7138	550	19	3	1296	3	HGSNAT	8	43046738	Splice_Site	SNP	C	TCGA-CN-4731-01A-01D-1434-08	16324434	43046738	103317284	61	12853											
MCM4	4173	broad.mit.edu	37	chr8	48874211	48874211	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgcgcaggacgtgctgtTttccagccctccccaaatgc	6	10	10	15	2	0	0	0	0	0	0	2	1	2	1	4	1	5	4	4	1	1	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:48874211T>C	ENST00000262105.2	+	2	415	c.206T>C	c.(205-207)tTt>tCt	p.F69S	MCM4_ENST00000523944.1_Missense_Mutation_p.F69S	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	69					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GACGTGCTGTTTTCCAGCCCT	0.557													18	174					0	0	0	0	C	48874211	T	C	48874211	3	2	65	1	0	0	0	0	1	0	0	0	9458	1841	64	5	212	5	MCM4	8	48874211	Missense_Mutation	SNP	T	TCGA-CN-4731-01A-01D-1434-08	5827473	48874211	97489811	62	12854											
RP1	6101	broad.mit.edu	37	chr8	55539813	55539813	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattctgcaatatgtaattCatccactaatctccttctag	11	16	3	11	0	5	0	2	0	3	0	7	0	6	0	2	0	1	2	2	0	5	7			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:55539813C>A	ENST00000220676.1	+	4	3519	c.3371C>A	c.(3370-3372)tCa>tAa	p.S1124*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1124					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATATGTAATTCATCCACTAAT	0.418													39	92					9.8876e-21	1.07865e-20	1	0	A	55539813	C	A	55539813	4	1	65	1	0	0	0	0	0	1	0	0	13617	838	29	2	3381	2	RP1	8	55539813	Nonsense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	6665602	55539813	90824209	63	12855											
VPS13B	157680	broad.mit.edu	37	chr8	100533240	100533240	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaggaaagatatttaccagTaagtttattttcttatgtcc	12	18	6	5	0	1	1	0	0	1	1	2	2	2	2	2	1	1	2	2	1	7	10			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:100533240T>A	ENST00000395996.1	+	31	4998		c.e31+2		VPS13B_ENST00000357162.2_Splice_Site|VPS13B_ENST00000358544.2_Splice_Site			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATTTACCAGTAAGTTTATTT	0.393													70	100					0	0	0	0	A	100533240	T	A	100533240	5	1	65	1	0	0	0	0	0	0	1	0	17286	1652	57	5	5130	5	VPS13B	8	100533240	Splice_Site	SNP	T	TCGA-CN-4731-01A-01D-1434-08	44993427	100533240	45830782	64	12856											
RIMS2	9699	broad.mit.edu	37	chr8	105235966	105235966	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtagcctgtctgcctccttCgaggcactggccggctactt	5	11	11	14	2	1	0	0	0	1	0	3	1	2	0	4	3	3	3	4	3	2	4			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:105235966C>T	ENST00000339750.2	+	1	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTGCCTCCTTCGAGGCACTGG	0.637										HNSCC(12;0.0054)			4	26					0	0	0	0	T	105235966	C	T	105235966	2	4	65	1	0	0	0	0	0	0	0	1	13453	899	31	1		1	RIMS2	8	105235966	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	4702726	105235966	41128056	65	12857											
MED30	90390	broad.mit.edu	37	chr8	118552148	118552148	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacagaagaatcaacagctGaaacaaattatggatcaatt	21	8	6	6	0	2	3	2	1	0	2	2	4	2	4	0	1	4	1	0	1	8	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:118552148G>A	ENST00000297347.3	+	4	632	c.468G>A	c.(466-468)ctG>ctA	p.L156L	MED30_ENST00000522839.1_Silent_p.L121L	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	156					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			ATCAACAGCTGAAACAAATTA	0.303													18	40					0	0	0	0	A	118552148	G	A	118552148	2	1	65	1	0	0	0	0	0	0	0	1	9517	1277	45	2		2	MED30	8	118552148	Silent	SNP	G	TCGA-CN-4731-01A-01D-1434-08	13316182	118552148	27811874	66	12858											
CDKN2A	1029	broad.mit.edu	37	chr9	21968242	21968242	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctttcaatcggggatgtCtgcagagggcagaaagaaaa	13	9	13	6	1	3	3	1	0	2	3	4	4	3	4	0	3	1	3	0	3	4	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:21968242C>T	ENST00000579755.1	-	3	793		c.e3-1		CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(6)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGGGATGTCTGCAGAGGGC	0.542		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			26	30					0	0	0	0	T	21968242	C	T	21968242	5	4	65	1	0	0	0	0	0	0	1	0	3190	927	32	2	17	2	CDKN2A	9	21968242	Splice_Site	SNP	C	TCGA-CN-4731-01A-01D-1434-08		21968242	119245189	67	12859											
RUSC2	9853	broad.mit.edu	37	chr9	35555657	35555657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcagagagcctggcccGgggaggtggtgagggcagca	8	3	20	10	2	0	2	0	1	0	1	0	5	0	3	3	6	3	3	3	6	0	0	rs140042742	byFrequency	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:35555657G>A	ENST00000455600.1	+	3	3184	c.2615G>A	c.(2614-2616)cGg>cAg	p.R872Q		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	872						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGCCTGGCCCGGGGAGGTGGT	0.632													33	58					0	0	0	0	A	35555657	G	A	35555657	3	1	65	1	0	0	0	0	1	0	0	0	13836	1116	39	1	2621	1	RUSC2	9	35555657	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	13587415	35555657	105657774	68	12860											
GDA	9615	broad.mit.edu	37	chr9	74863197	74863197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttctttcaggagatgatcGaaatattgaagaggtttatg	12	16	10	3	1	2	4	1	2	1	2	3	6	2	4	0	2	0	1	0	2	4	7			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:74863197G>A	ENST00000358399.3	+	14	1397	c.1304G>A	c.(1303-1305)cGa>cAa	p.R435Q	GDA_ENST00000238018.4_Missense_Mutation_p.R435Q|GDA_ENST00000376989.3_Missense_Mutation_p.R374Q|GDA_ENST00000376986.1_Missense_Mutation_p.R357Q|GDA_ENST00000545168.1_Missense_Mutation_p.R361Q	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	435					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)		GGAGATGATCGAAATATTGAA	0.403													52	124					0	0	0	0	A	74863197	G	A	74863197	3	1	65	1	0	0	0	0	1	0	0	0	6356	1058	37	1	1358	1	GDA	9	74863197	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	39307540	74863197	66350234	69	12861											
C9orf117	286207	broad.mit.edu	37	chr9	130475482	130475482	+	Frame_Shift_Del	DEL	T	T	-																															ttccgggcacacagcagcccTgaggtgagggtgccaggggc																										TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:130475482delT	ENST00000373295.2	+	8	1528	c.1488delT	c.(1486-1488)ccfs	p.P496fs	C9orf117_ENST00000373293.5_Intron|C9orf117_ENST00000464092.1_Intron	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	496										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ACAGCAGCCCTGAGGTGAGGG	0.647													34	47	---	---	---	---					-	130475482	T	-	130475482	7	5	65	1	0	1	0	1	0	0	0	0	2476	1567	55	0	1518	0	C9orf117	9	130475482	Frame_Shift_Del	DEL	T	TCGA-CN-4731-01A-01D-1434-08	55612285	130475482	10737949	70	12862											
SETX	23064	broad.mit.edu	37	chr9	135153533	135153533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatgcatcctgtactgaaCagtgagctgtagaatgggca	11	10	13	7	0	0	3	0	2	0	1	1	4	1	4	1	2	4	5	1	2	4	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:135153533C>G	ENST00000372169.2	-	21	6948	c.6766G>C	c.(6766-6768)Gtt>Ctt	p.V2256L	SETX_ENST00000393220.1_Missense_Mutation_p.V2256L|SETX_ENST00000224140.5_Missense_Mutation_p.V2256L			Q7Z333	SETX_HUMAN	senataxin	2256					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGTACTGAACAGTGAGCTGT	0.428													58	254					0	0	0	0	G	135153533	C	G	135153533	3	3	65	1	0	0	0	0	1	0	0	0	14228	478	17	4	1291	4	SETX	9	135153533	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	4678051	135153533	6059898	71	12863											
C9orf37	85026	broad.mit.edu	37	chr9	140510521	140510521	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttgtcagttaccttatctAtaaaatgcacaggaccaggc	12	12	8	9	0	2	0	1	0	1	0	2	1	2	1	2	2	2	3	2	2	5	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:140510521A>G	ENST00000371417.3	-	3	671	c.131T>C	c.(130-132)aTa>aCa	p.I44T	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN	chromosome 9 open reading frame 37	44										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		TACCTTATCTATAAAATGCAC	0.527													11	29					0	0	0	0	G	140510521	A	G	140510521	3	3	65	1	0	0	0	0	1	0	0	0	2504	449	16	5	403	5	C9orf37	9	140510521	Missense_Mutation	SNP	A	TCGA-CN-4731-01A-01D-1434-08	5356988	140510521	702910	72	12864											
CSTF2T	23283	broad.mit.edu	37	chr10	53459124	53459124	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcctggtcttggtattcGcagaagccatagcccttggg	6	12	12	11	1	2	1	0	0	2	1	4	1	2	1	3	3	2	2	3	3	3	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:53459124G>A	ENST00000331173.4	-	1	231	c.186C>T	c.(184-186)tgC>tgT	p.C62C	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	62	RRM.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CTTGGTATTCGCAGAAGCCAT	0.537													75	149					0	0	0	0	A	53459124	G	A	53459124	2	1	65	1	0	0	0	0	0	0	0	1	4017	1079	38	1		1	CSTF2T	10	53459124	Silent	SNP	G	TCGA-CN-4731-01A-01D-1434-08		53459124	82075623	73	12865											
CCAR1	55749	broad.mit.edu	37	chr10	70531028	70531028	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttggtgtccgtatatacaaAtcattactgtctcttcctga	9	17	6	9	1	2	1	1	1	1	0	5	1	4	1	2	1	2	1	2	1	5	6			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:70531028A>G	ENST00000265872.6	+	18	2483	c.2364A>G	c.(2362-2364)aaA>aaG	p.K788K	CCAR1_ENST00000543719.1_Silent_p.K773K|CCAR1_ENST00000535016.1_Silent_p.K773K	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	788	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GTATATACAAATCATTACTGT	0.308													54	118					0	0	0	0	G	70531028	A	G	70531028	2	3	65	1	0	0	0	0	0	0	0	1	2755	98	4	5		5	CCAR1	10	70531028	Silent	SNP	A	TCGA-CN-4731-01A-01D-1434-08	17071904	70531028	65003719	74	12866											
PLCE1	51196	broad.mit.edu	37	chr10	95995857	95995857	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctccaggaaaagctccttGaaggataaaagccgatggca	15	6	11	9	1	0	1	0	1	0	0	2	4	2	3	3	3	3	3	3	3	5	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:95995857G>A	ENST00000260766.3	+	7	3034	c.2400G>A	c.(2398-2400)ttG>ttA	p.L800L	PLCE1_ENST00000371375.1_Silent_p.L492L|PLCE1_ENST00000371380.2_Silent_p.L800L|PLCE1_ENST00000371385.3_Silent_p.L492L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	800					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGCTCCTTGAAGGATAAAA	0.458													12	86					0	0	0	0	A	95995857	G	A	95995857	2	1	65	1	0	0	0	0	0	0	0	1	12106	1281	45	2		2	PLCE1	10	95995857	Silent	SNP	G	TCGA-CN-4731-01A-01D-1434-08	25464829	95995857	39538890	75	12867											
HPS1	3257	broad.mit.edu	37	chr10	100182223	100182223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccatctgcccagtggtgCggtccacatagatgaagtgc	9	8	11	13	1	1	2	0	1	1	1	2	2	2	2	4	2	3	0	4	2	2	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:100182223C>T	ENST00000325103.6	-	17	1879	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H	HPS1_ENST00000361490.4_Missense_Mutation_p.R549H|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	549					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCCAGTGGTGCGGTCCACATA	0.562									Hermansky-Pudlak syndrome				66	181					0	0	0	0	T	100182223	C	T	100182223	3	4	65	1	0	0	0	0	1	0	0	0	7389	768	27	1	472	1	HPS1	10	100182223	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	4186366	100182223	35352524	76	12868											
ABCC8	6833	broad.mit.edu	37	chr11	17427072	17427072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttacagtcagatgaaaatCtgttcaggatgctcccaagg	12	11	10	8	0	3	2	2	1	1	1	4	3	4	3	1	2	2	3	1	2	4	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:17427072C>A	ENST00000302539.4	-	27	3496	c.3371G>T	c.(3370-3372)aGa>aTa	p.R1124I	ABCC8_ENST00000389817.3_Missense_Mutation_p.R1123I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1123	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGATGAAAATCTGTTCAGGAT	0.512													64	146					2.69673e-31	3.08198e-31	1	0	A	17427072	C	A	17427072	3	1	65	1	0	0	0	0	1	0	0	0	58	913	32	2	1429	2	ABCC8	11	17427072	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08		17427072	117579444	77	12869											
API5	8539	broad.mit.edu	37	chr11	43345053	43345053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttaaaaagcttacagaCagtgagtggaagacagcaac	16	7	12	6	0	0	3	0	1	0	2	0	4	0	4	0	2	4	3	0	2	6	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:43345053C>A	ENST00000378852.3	+	6	742	c.617C>A	c.(616-618)aCa>aAa	p.T206K	API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Missense_Mutation_p.T206K|API5_ENST00000420461.2_Missense_Mutation_p.T152K|API5_ENST00000455725.2_Missense_Mutation_p.T195K|API5_ENST00000531273.1_Missense_Mutation_p.T206K	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	206					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.L204_S208delLQTVS(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AGCTTACAGACAGTGAGTGGA	0.438													50	94					6.18754e-15	6.62106e-15	1	0	A	43345053	C	A	43345053	3	1	65	1	0	0	0	0	1	0	0	0	774	478	17	4	639	4	API5	11	43345053	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	25917981	43345053	91661463	78	12870											
OR5T1	390155	broad.mit.edu	37	chr11	56043909	56043909	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggagtgacaatttatcatggGacaatcctcttcatgtatgt	11	14	9	7	0	3	1	2	1	1	0	4	3	4	3	1	2	0	1	1	2	4	4			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:56043909G>C	ENST00000313033.2	+	1	881	c.795G>C	c.(793-795)ggG>ggC	p.G265G		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTTATCATGGGACAATCCTCT	0.418													219	247					0	0	0	0	C	56043909	G	C	56043909	2	2	65	1	0	0	0	0	0	0	0	1	11252	1161	41	2		2	OR5T1	11	56043909	Silent	SNP	G	TCGA-CN-4731-01A-01D-1434-08	12698856	56043909	78962607	79	12871											
VWCE	220001	broad.mit.edu	37	chr11	61042028	61042028	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacacagccccgtctgcGtaccaccggccgtggaaata	10	6	10	15	4	1	1	0	1	1	0	1	2	1	2	5	2	4	1	5	2	4	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:61042028G>C	ENST00000335613.5	-	12	1910	c.1524C>G	c.(1522-1524)taC>taG	p.Y508*		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	508	VWFC 3.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCCCGTCTGCGTACCACCGGC	0.552													30	147					0	0	0	0	C	61042028	G	C	61042028	4	2	65	1	0	0	0	0	0	1	0	0	17341	1140	40	3	1379	3	VWCE	11	61042028	Nonsense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	4998119	61042028	73964488	80	12872											
NDUFV1	4723	broad.mit.edu	37	chr11	67377002	67377002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatcttacgccatgatcctCacaagctgctggaaggctgc	10	9	10	12	1	2	2	1	1	1	1	3	3	3	3	2	2	4	3	2	2	3	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:67377002C>T	ENST00000322776.6	+	4	559	c.406C>T	c.(406-408)Cac>Tac	p.H136Y	NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000532303.1_Missense_Mutation_p.H35Y|NDUFV1_ENST00000529927.1_Missense_Mutation_p.H127Y|NDUFV1_ENST00000415352.2_Missense_Mutation_p.H129Y	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	136					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	CCATGATCCTCACAAGCTGCT	0.632													111	311					0	0	0	0	T	67377002	C	T	67377002	3	4	65	1	0	0	0	0	1	0	0	0	10369	826	29	2	420	2	NDUFV1	11	67377002	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	6334974	67377002	67629514	81	12873											
MYEOV	26579	broad.mit.edu	37	chr11	69062839	69062839	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatggccctcagaatctgCgtcacatacaccccagctct	9	9	6	17	1	5	1	3	0	2	1	5	1	5	1	3	1	3	1	3	1	2	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:69062839C>A	ENST00000308946.3	+	2	468	c.18C>A	c.(16-18)tgC>tgA	p.C6*	MYEOV_ENST00000535407.1_Intron|MYEOV_ENST00000441339.2_Nonsense_Mutation_p.C6*	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	6										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		tcagaatctgcgtcacataca	0.577													16	35					6.31663e-08	6.59126e-08	1	0	A	69062839	C	A	69062839	4	1	65	1	0	0	0	0	0	1	0	0	10095	776	27	3	20	3	MYEOV	11	69062839	Nonsense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	1685837	69062839	65943677	82	12874											
DLG2	1740	broad.mit.edu	37	chr11	84028144	84028144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacggcatccatcccatcGgacccccggctgcagctgtg	6	7	11	17	3	0	1	0	1	0	0	3	2	2	2	4	3	2	4	4	3	0	0			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:84028144G>A	ENST00000280241.8	-	1	44	c.45C>T	c.(43-45)tcC>tcT	p.S15S	DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398301.2_Silent_p.S15S	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCATCCCATCGGACCCCCGGC	0.577													95	357					0	0	0	0	A	84028144	G	A	84028144	2	1	65	1	0	0	0	0	0	0	0	1	4592	1131	39	1		1	DLG2	11	84028144	Silent	SNP	G	TCGA-CN-4731-01A-01D-1434-08	14965305	84028144	50978372	83	12875											
IL10RA	3587	broad.mit.edu	37	chr11	117857223	117857223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctggcggcgctcctcaGcctccgtcttggctcagacg	3	9	13	16	4	3	1	2	0	1	1	5	1	5	1	3	3	2	4	3	3	0	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:117857223G>T	ENST00000227752.3	+	1	161	c.41G>T	c.(40-42)aGc>aTc	p.S14I	IL10RA_ENST00000541785.1_5'UTR|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_5'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	14						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GCGCTCCTCAGCCTCCGTCTT	0.706													2	1					1	1	1	0	T	117857223	G	T	117857223	3	4	65	1	0	0	0	0	1	0	0	0	7673	971	34	4	43	4	IL10RA	11	117857223	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	33829079	117857223	17149293	84	12876											
VAMP1	6843	broad.mit.edu	37	chr12	6575058	6575058	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcttggcagcactgctctCaaattgtgatgctcctgcct	7	13	9	12	0	1	1	1	1	1	0	3	1	2	1	2	1	5	5	2	1	2	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:6575058C>A	ENST00000361716.3	-	3	693	c.238G>T	c.(238-240)Gag>Tag	p.E80*	TAPBPL_ENST00000545700.1_3'UTR|VAMP1_ENST00000544432.1_5'UTR|VAMP1_ENST00000400911.3_Nonsense_Mutation_p.E80*|VAMP1_ENST00000396308.3_Nonsense_Mutation_p.E80*|VAMP1_ENST00000535180.1_Nonsense_Mutation_p.E80*			P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	80	v-SNARE coiled-coil homology.				neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding	p.E80*(1)		endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	GCACTGCTCTCAAATTGTGAT	0.512											OREG0021627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	120					0.184627	0.185733	1	0	A	6575058	C	A	6575058	4	1	65	1	0	0	0	0	0	1	0	0	17208	835	29	2	159	2	VAMP1	12	6575058	Nonsense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08		6575058	127276837	85	12877											
NCAPD2	9918	broad.mit.edu	37	chr12	6632162	6632162	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcaaccccaaaggggactCtgccaggtatatggggtgct	9	8	12	12	0	2	0	1	0	1	0	2	1	2	1	4	5	3	2	4	5	4	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:6632162C>G	ENST00000315579.5	+	16	2922	c.2123C>G	c.(2122-2124)tCt>tGt	p.S708C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.S663C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	708					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AAAGGGGACTCTGCCAGGTAT	0.542													34	86					0	0	0	0	G	6632162	C	G	6632162	3	3	65	1	0	0	0	0	1	0	0	0	10275	913	32	2	2181	2	NCAPD2	12	6632162	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	57104	6632162	127219733	86	12878											
GYS2	2998	broad.mit.edu	37	chr12	21693415	21693415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctggataatcctttggcGgcgtgactgtttgcaaaatc	8	13	10	10	2	1	1	0	1	1	0	3	2	2	2	2	3	1	2	2	3	3	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:21693415G>A	ENST00000261195.2	-	14	1992	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	580					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCCTTTGGCGGCGTGACTGT	0.438													117	267					0	0	0	0	A	21693415	G	A	21693415	3	1	65	1	0	0	0	0	1	0	0	0	6963	1116	39	1	385	1	GYS2	12	21693415	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	15061253	21693415	112158480	87	12879											
SCN8A	6334	broad.mit.edu	37	chr12	52201177	52201177	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaagaagggaaagagcCaaaagacaaaaagaggtcag	22	1	14	4	0	1	4	1	0	0	4	1	7	1	6	1	3	1	0	1	3	8	0			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:52201177C>T	ENST00000354534.5	+	27	6085	c.5907C>T	c.(5905-5907)gcC>gcT	p.A1969A	SCN8A_ENST00000545061.1_Silent_p.A1928A	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1969					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGGAAAGAGCCAAAAGACAAA	0.428													16	23					0	0	0	0	T	52201177	C	T	52201177	2	4	65	1	0	0	0	0	0	0	0	1	14011	581	21	4		4	SCN8A	12	52201177	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	30507762	52201177	81650718	88	12880											
ACVR1B	91	broad.mit.edu	37	chr12	52378996	52378996	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaagcctggaattgctcatCgagacttaaagtcaaagaac	15	8	10	8	1	2	2	2	0	0	2	3	5	2	4	1	2	3	1	1	2	6	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:52378996C>T	ENST00000257963.4	+	6	1077	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	ACVR1B_ENST00000426655.2_Nonsense_Mutation_p.R334*|ACVR1B_ENST00000415850.2_Nonsense_Mutation_p.R334*|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000542485.1_Nonsense_Mutation_p.R282*|ACVR1B_ENST00000541224.1_Nonsense_Mutation_p.R375*	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	334	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AATTGCTCATCGAGACTTAAA	0.433													44	32					0	0	0	0	T	52378996	C	T	52378996	4	4	65	1	0	0	0	0	0	1	0	0	221	876	31	1	1149	1	ACVR1B	12	52378996	Nonsense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	177819	52378996	81472899	89	12881											
KRT5	3852	broad.mit.edu	37	chr12	52910945	52910945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctggatcatccggttcatCtcagagatctcatgcttggt	7	14	9	11	1	5	1	4	0	3	1	8	3	6	2	1	3	1	2	1	3	0	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:52910945C>G	ENST00000252242.4	-	6	1554	c.1164G>C	c.(1162-1164)gaG>gaC	p.E388D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	388	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCGGTTCATCTCAGAGATCT	0.522													180	100					0	0	0	0	G	52910945	C	G	52910945	3	3	65	1	0	0	0	0	1	0	0	0	8531	912	32	2	624	2	KRT5	12	52910945	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	531949	52910945	80940950	90	12882											
LRP1	4035	broad.mit.edu	37	chr12	57571369	57571369	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgcatcctttggattgaCgccaggtcagcaccctctgt	8	10	10	13	2	2	1	1	1	1	0	3	2	3	2	3	2	2	2	3	2	1	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:57571369C>T	ENST00000243077.3	+	26	4822	c.4356C>T	c.(4354-4356)gaC>gaT	p.D1452D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1452					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.D1452D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTTGGATTGACGCCAGGTCAG	0.657													11	53					0	0	0	0	T	57571369	C	T	57571369	2	4	65	1	0	0	0	0	0	0	0	1	9015	535	19	1		1	LRP1	12	57571369	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	4660424	57571369	76280526	91	12883											
KCNMB4	27345	broad.mit.edu	37	chr12	70824419	70824419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcggaagccatgaagaagCgcaagttctcttaaagggga	14	6	14	7	2	1	2	0	1	1	1	2	4	1	4	1	4	2	2	1	4	6	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:70824419C>T	ENST00000258111.4	+	3	1078	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	207					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CATGAAGAAGCGCAAGTTCTC	0.552													54	15					0	0	0	0	T	70824419	C	T	70824419	3	4	65	1	0	0	0	0	1	0	0	0	8130	768	27	1	629	1	KCNMB4	12	70824419	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	13253050	70824419	63027476	92	12884											
CAMKK2	10645	broad.mit.edu	37	chr12	121701709	121701709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggctggatgcagcctccaGgagctggccgggtgcctcgg	4	7	18	12	2	0	0	0	0	0	0	2	2	1	2	4	6	4	3	4	6	0	0			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:121701709G>A	ENST00000324774.5	-	6	1487	c.659C>T	c.(658-660)cCt>cTt	p.P220L	CAMKK2_ENST00000337174.3_Missense_Mutation_p.P220L|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P220L|CAMKK2_ENST00000392473.2_Missense_Mutation_p.P220L|CAMKK2_ENST00000392474.2_Missense_Mutation_p.P220L|CAMKK2_ENST00000446440.2_Missense_Mutation_p.P220L|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P220L|CAMKK2_ENST00000538733.1_Missense_Mutation_p.P220L|CAMKK2_ENST00000404169.3_Missense_Mutation_p.P220L|CAMKK2_ENST00000412367.2_Missense_Mutation_p.P220L|CAMKK2_ENST00000535524.1_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	220	Protein kinase.|RP domain.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCAGCCTCCAGGAGCTGGCCG	0.612													41	26					0	0	0	0	A	121701709	G	A	121701709	3	1	65	1	0	0	0	0	1	0	0	0	2632	1000	35	4	1165	4	CAMKK2	12	121701709	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	50877290	121701709	12150186	93	12885											
RNF17	56163	broad.mit.edu	37	chr13	25374506	25374506	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacttgaatttctcctagagTtgttgatacccatgtgagac	10	15	8	8	0	1	4	0	3	1	2	2	5	1	4	2	0	2	2	2	0	4	7			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr13:25374506T>C	ENST00000255324.5	+	13	1644	c.1592T>C	c.(1591-1593)gTt>gCt	p.V531A	RNF17_ENST00000255325.5_Missense_Mutation_p.V532A|RNF17_ENST00000381921.1_Missense_Mutation_p.V531A	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	531					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)		TCTCCTAGAGTTGTTGATACC	0.328													53	159					0	0	0	0	C	25374506	T	C	25374506	3	2	65	1	0	0	0	0	1	0	0	0	13546	1725	60	5	1642	5	RNF17	13	25374506	Missense_Mutation	SNP	T	TCGA-CN-4731-01A-01D-1434-08		25374506	89795372	94	12886											
FREM2	341640	broad.mit.edu	37	chr13	39264672	39264672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatcctgcctgttgataGccaggccccagaaatctttg	9	10	9	13	0	1	2	0	1	1	1	2	3	2	2	6	1	2	1	6	1	2	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr13:39264672G>T	ENST00000280481.7	+	1	3407	c.3191G>T	c.(3190-3192)aGc>aTc	p.S1064I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1064					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCTGTTGATAGCCAGGCCCCA	0.413													92	168					4.08182e-41	4.69689e-41	1	0	T	39264672	G	T	39264672	3	4	65	1	0	0	0	0	1	0	0	0	6093	971	34	4	3193	4	FREM2	13	39264672	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	13890166	39264672	75905206	95	12887											
L2HGDH	79944	broad.mit.edu	37	chr14	50736050	50736050	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatcgaatttcctctcccTagtgcaaaataaaagaacag	16	9	6	10	1	1	1	0	0	1	1	4	3	2	1	2	0	2	1	2	0	7	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:50736050T>G	ENST00000267436.4	-	7	1136		c.e7-2		L2HGDH_ENST00000421284.3_Splice_Site|L2HGDH_ENST00000261699.4_Splice_Site			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase						2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TTCCTCTCCCTAGTGCAAAAT	0.383													154	70					0	0	0	0	G	50736050	T	G	50736050	5	3	65	1	0	0	0	0	0	0	1	0	8643	1536	53	5	670	5	L2HGDH	14	50736050	Splice_Site	SNP	T	TCGA-CN-4731-01A-01D-1434-08		50736050	56613490	96	12888											
HIF1A	3091	broad.mit.edu	37	chr14	62207599	62207599	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccctgaaagcgcaagtcctCaaagcacagttacagtattc	13	8	8	12	1	1	1	1	1	0	0	3	1	2	1	2	0	3	4	2	0	5	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:62207599C>G	ENST00000394997.1	+	12	2054	c.1789C>G	c.(1789-1791)Caa>Gaa	p.Q597E	HIF1A_ENST00000557538.1_Missense_Mutation_p.Q537E|HIF1A-AS2_ENST00000554254.1_lincRNA|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000539097.1_Missense_Mutation_p.Q620E|HIF1A_ENST00000323441.6_Missense_Mutation_p.Q596E|HIF1A_ENST00000337138.4_Missense_Mutation_p.Q596E			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	596	ID.|ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		CGCAAGTCCTCAAAGCACAGT	0.448													55	106					0	0	0	0	G	62207599	C	G	62207599	3	3	65	1	0	0	0	0	1	0	0	0	7153	827	29	2	1832	2	HIF1A	14	62207599	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	11471549	62207599	45141941	97	12889											
SLC8A3	6547	broad.mit.edu	37	chr14	70515625	70515625	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatggagacggcgaagcaggCccagccgtggcagtactctg	9	5	16	11	3	1	1	0	0	1	1	1	4	1	1	2	4	3	3	2	4	2	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:70515625C>G	ENST00000381269.2	-	7	3019	c.2266G>C	c.(2266-2268)Gcc>Ccc	p.A756P	SLC8A3_ENST00000534137.1_Missense_Mutation_p.A753P|SLC8A3_ENST00000533541.1_Missense_Mutation_p.A113P|SLC8A3_ENST00000528359.1_Missense_Mutation_p.A754P|SLC8A3_ENST00000216568.7_Missense_Mutation_p.A127P|SLC8A3_ENST00000356921.2_Missense_Mutation_p.A750P|SLC8A3_ENST00000394330.2_Missense_Mutation_p.A113P|SLC8A3_ENST00000357887.3_Missense_Mutation_p.A754P	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	756					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCGAAGCAGGCCCAGCCGTGG	0.582													8	27					0	0	0	0	G	70515625	C	G	70515625	3	3	65	1	0	0	0	0	1	0	0	0	14796	739	26	4	525	4	SLC8A3	14	70515625	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	8308026	70515625	36833915	98	12890											
SERPINA4	5267	broad.mit.edu	37	chr14	95033334	95033334	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagaaaccattcatttcctCaaggaccactcccaaagact	14	8	6	13	0	2	2	2	0	0	2	4	4	4	3	4	2	1	0	4	2	3	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:95033334C>G	ENST00000557004.1	+	3	1098	c.677C>G	c.(676-678)tCa>tGa	p.S226*	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Nonsense_Mutation_p.S226*|SERPINA4_ENST00000555095.1_Nonsense_Mutation_p.S226*			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	226					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TTCATTTCCTCAAGGACCACT	0.512													39	100					0	0	0	0	G	95033334	C	G	95033334	4	3	65	1	0	0	0	0	0	1	0	0	14178	838	29	2	683	2	SERPINA4	14	95033334	Nonsense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	24517709	95033334	12316206	99	12891											
FMN1	342184	broad.mit.edu	37	chr15	33260945	33260945	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatttgtatcctagtccaaTataaaggcttcatgggacaa	13	14	7	7	0	1	0	1	0	0	0	3	1	3	1	2	2	0	2	2	2	8	7			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr15:33260945T>C	ENST00000334528.9	-	4	2287	c.2288A>G	c.(2287-2289)tAt>tGt	p.Y763C	FMN1_ENST00000559047.1_Missense_Mutation_p.Y986C|FMN1_ENST00000561249.1_Missense_Mutation_p.Y888C	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	986	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCTAGTCCAATATAAAGGCTT	0.463													86	169					0	0	0	0	C	33260945	T	C	33260945	3	2	65	1	0	0	0	0	1	0	0	0	5994	1406	49	5	1358	5	FMN1	15	33260945	Missense_Mutation	SNP	T	TCGA-CN-4731-01A-01D-1434-08		33260945	69270447	100	12892											
PKD1	5310	broad.mit.edu	37	chr16	2168022	2168022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgcccaggcagcacatagCgatgcgaggcagccggccca	10	2	14	15	4	0	0	0	0	0	0	0	2	0	0	3	3	5	3	3	3	1	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:2168022C>T	ENST00000262304.4	-	5	1179	c.971G>A	c.(970-972)cGc>cAc	p.R324H	PKD1_ENST00000423118.1_Missense_Mutation_p.R324H	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	324	PKD 1.		R -> L (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGCACATAGCGATGCGAGGC	0.711													10	12					0	0	0	0	T	2168022	C	T	2168022	3	4	65	1	0	0	0	0	1	0	0	0	12035	768	27	1	12108	1	PKD1	16	2168022	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08		2168022	88186731	101	12893											
PGP	283871	broad.mit.edu	37	chr16	2264251	2264251	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtgagcttcatgtagctGaagtgcgggtcaaagcccac	9	10	13	9	1	2	2	2	2	0	0	2	2	2	2	1	2	4	3	1	2	3	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:2264251G>C	ENST00000333503.7	-	1	557	c.528C>G	c.(526-528)ttC>ttG	p.F176L		NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	176					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						TCATGTAGCTGAAGTGCGGGT	0.697													6	25					0	0	0	0	C	2264251	G	C	2264251	3	2	65	1	0	0	0	0	1	0	0	0	11874	1281	45	2	445	2	PGP	16	2264251	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	96229	2264251	88090502	102	12894											
ZG16B	124220	broad.mit.edu	37	chr16	2881955	2881955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtacaccagcaaggaccGctatttctattttgggaagc	11	11	9	10	1	1	0	0	0	1	0	1	2	1	2	2	2	3	3	2	2	5	6			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:2881955G>A	ENST00000382280.3	+	4	501	c.422G>A	c.(421-423)cGc>cAc	p.R141H	ZG16B_ENST00000572863.1_Missense_Mutation_p.R111H	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	141						extracellular region	sugar binding	p.R141H(1)		central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						AGCAAGGACCGCTATTTCTAT	0.537													49	103					0	0	0	0	A	2881955	G	A	2881955	3	1	65	1	0	0	0	0	1	0	0	0	17767	1087	38	1	436	1	ZG16B	16	2881955	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	617704	2881955	87472798	103	12895											
NLRC3	197358	broad.mit.edu	37	chr16	3613683	3613683	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaccaaacgccttcatgtCttgctcgtaaaacacgtatt	12	12	5	12	3	2	0	1	0	1	0	3	0	2	0	2	0	4	3	2	0	5	6			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:3613683C>G	ENST00000301749.7	-	0	1660				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCTTCATGTCTTGCTCGTAA	0.592													16	31					0	0	0	0	G	3613683	C	G	3613683	1	3	65	0	1	0	0	0	0	0	0	0	10538	913	32	2		2	NLRC3	16	3613683	RNA	SNP	C	TCGA-CN-4731-01A-01D-1434-08	731728	3613683	86741070	104	12896											
ACSM2B	348158	broad.mit.edu	37	chr16	20565181	20565181	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accactggtcccactagtgaAgtagatggcagatgcttcct	10	10	10	11	0	0	3	0	1	0	2	2	3	2	3	3	2	1	3	3	2	3	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:20565181A>G	ENST00000329697.6	-	5	826	c.658T>C	c.(658-660)Ttc>Ctc	p.F220L	ACSM2B_ENST00000565322.1_Missense_Mutation_p.F141L|ACSM2B_ENST00000565232.1_Missense_Mutation_p.F220L|ACSM2B_ENST00000567001.1_Missense_Mutation_p.F220L	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	220					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCACTAGTGAAGTAGATGGCA	0.512													61	119					0	0	0	0	G	20565181	A	G	20565181	3	3	65	1	0	0	0	0	1	0	0	0	184	72	3	5	1115	5	ACSM2B	16	20565181	Missense_Mutation	SNP	A	TCGA-CN-4731-01A-01D-1434-08	16951498	20565181	69789572	105	12897											
KCTD13	253980	broad.mit.edu	37	chr16	29923281	29923281	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggcttgggggcctcacCttggaggtgctggccaggag	5	7	19	10	0	1	0	1	0	0	0	1	2	1	2	3	7	1	3	3	7	0	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:29923281C>T	ENST00000568000.1	-	3	1505	c.504_splice	c.e3+1	p.K168_splice		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	168					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						GGGGCCTCACCTTGGAGGTGC	0.672													14	24					0	0	0	0	T	29923281	C	T	29923281	5	4	65	1	0	0	0	0	0	0	1	0	8153	695	24	4	501	4	KCTD13	16	29923281	Splice_Site	SNP	C	TCGA-CN-4731-01A-01D-1434-08	9358100	29923281	60431472	106	12898											
ITGAM	3684	broad.mit.edu	37	chr16	31332573	31332573	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccctcagcggatagcaggCtccaagctctctcccaggct	8	8	9	16	1	2	0	1	0	1	0	5	1	4	1	3	3	4	4	3	3	3	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:31332573C>A	ENST00000544665.3	+	15	1793	c.1722C>A	c.(1720-1722)ggC>ggA	p.G574G	ITGAM_ENST00000287497.8_Silent_p.G573G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	573					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GGATAGCAGGCTCCAAGCTCT	0.542													108	260					2.13259e-42	2.47086e-42	1	0	A	31332573	C	A	31332573	2	1	65	1	0	0	0	0	0	0	0	1	7940	784	28	4		4	ITGAM	16	31332573	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	1409292	31332573	59022180	107	12899											
ARMC5	79798	broad.mit.edu	37	chr16	31477249	31477249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgacgcacctgctgctctCtgggagccctgaggaccgag	6	7	13	15	2	1	2	0	2	1	0	2	5	1	4	4	2	3	3	4	2	0	0			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:31477249C>T	ENST00000408912.3	+	7	2545	c.2228C>T	c.(2227-2229)tCt>tTt	p.S743F	ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000268314.4_Missense_Mutation_p.S648F|ARMC5_ENST00000412665.2_Missense_Mutation_p.S292F|ARMC5_ENST00000563544.1_Missense_Mutation_p.S648F|ARMC5_ENST00000538189.1_Missense_Mutation_p.S680F			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	648							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGCTGCTCTCTGGGAGCCCT	0.647													4	110					0	0	0	0	T	31477249	C	T	31477249	3	4	65	1	0	0	0	0	1	0	0	0	958	913	32	2	2275	2	ARMC5	16	31477249	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	144676	31477249	58877504	108	12900											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53639439	53639439	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccttcctgaaacatgtcGgcaaggtcgacgtgagccac	9	8	10	14	3	0	2	0	2	0	0	4	3	2	2	3	2	2	1	3	2	2	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:53639439G>A	ENST00000262135.4	-	24	3642	c.3549C>T	c.(3547-3549)gcC>gcT	p.A1183A	RPGRIP1L_ENST00000379925.3_Silent_p.A1263A|RPGRIP1L_ENST00000564374.1_Silent_p.A1217A|RPGRIP1L_ENST00000563746.1_Silent_p.A1229A	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1263			A -> G (in a patient with Meckel-Gruber like syndrome also carrying L-220 and V- 280 in TTC21B).		negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GAAACATGTCGGCAAGGTCGA	0.527													36	98					0	0	0	0	A	53639439	G	A	53639439	2	1	65	1	0	0	0	0	0	0	0	1	13635	1103	39	1		1	RPGRIP1L	16	53639439	Silent	SNP	G	TCGA-CN-4731-01A-01D-1434-08	22162190	53639439	36715314	109	12901											
WWOX	51741	broad.mit.edu	37	chr16	78133748	78133748	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctccgggctgggaggagAgaaccaccaaggacggctgg	9	4	17	11	2	0	1	0	0	0	1	1	5	1	4	4	6	2	2	4	6	2	0			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:78133748A>T	ENST00000566780.1	+	1	439	c.73A>T	c.(73-75)Aga>Tga	p.R25*	WWOX_ENST00000569818.1_Nonsense_Mutation_p.R25*|WWOX_ENST00000402655.2_Nonsense_Mutation_p.R25*|WWOX_ENST00000355860.3_Nonsense_Mutation_p.R25*|WWOX_ENST00000406884.2_Nonsense_Mutation_p.R25*|WWOX_ENST00000539474.2_Nonsense_Mutation_p.R25*|WWOX_ENST00000408984.3_Nonsense_Mutation_p.R25*	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	25	WW 1.				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CTGGGAGGAGAGAACCACCAA	0.701											OREG0023952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	9					0	0	0	0	T	78133748	A	T	78133748	4	4	65	1	0	0	0	0	0	1	0	0	17510	296	11	5	75	5	WWOX	16	78133748	Nonsense_Mutation	SNP	A	TCGA-CN-4731-01A-01D-1434-08	24494309	78133748	12221005	110	12902											
ATMIN	23300	broad.mit.edu	37	chr16	81077308	81077308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacaagaactagggaacaCgtgtcaaaagaatagcattt	17	10	8	6	1	1	2	1	0	0	2	1	3	1	3	0	1	4	1	0	1	9	5	rs139034682		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:81077308C>T	ENST00000566488.1	+	3	1700	c.737C>T	c.(736-738)aCg>aTg	p.T246M	ATMIN_ENST00000299575.4_Missense_Mutation_p.T402M|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.T246M			O43313	ATMIN_HUMAN	ATM interactor	402	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTAGGGAACACGTGTCAAAAG	0.403													76	140					0	0	0	0	T	81077308	C	T	81077308	3	4	65	1	0	0	0	0	1	0	0	0	1114	536	19	1	1219	1	ATMIN	16	81077308	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	2943560	81077308	9277445	111	12903											
CDH15	1013	broad.mit.edu	37	chr16	89257810	89257810	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggatccagacccagcaCgtgctcagcccggcgtcccc	6	4	12	19	4	1	1	1	0	0	1	3	2	3	2	6	3	3	2	6	3	0	0			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:89257810C>T	ENST00000289746.2	+	9	1370	c.1305C>T	c.(1303-1305)caC>caT	p.H435H		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	435	Cadherin 4.				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)		AGACCCAGCACGTGCTCAGCC	0.672													24	35					0	0	0	0	T	89257810	C	T	89257810	2	4	65	1	0	0	0	0	0	0	0	1	3129	535	19	1		1	CDH15	16	89257810	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	8180502	89257810	1096943	112	12904											
POLR2A	5430	broad.mit.edu	37	chr17	7415500	7415500	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgcttatggaagcagcCgcacacggtgagagtgaccc	10	6	14	11	3	0	2	0	2	0	1	0	5	0	3	2	2	3	3	2	2	2	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:7415500C>T	ENST00000322644.6	+	26	4728	c.4329C>T	c.(4327-4329)gcC>gcT	p.A1443A		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1443					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGGAAGCAGCCGCACACGGTG	0.617													25	47					0	0	0	0	T	7415500	C	T	7415500	2	4	65	1	0	0	0	0	0	0	0	1	12286	639	23	1		1	POLR2A	17	7415500	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08		7415500	73779710	113	12905											
TP53	7157	broad.mit.edu	37	chr17	7578419	7578419	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggcagcgcctcacaacctCcgtcatgtgctgtgactgct	6	9	12	14	2	2	1	2	1	0	0	3	1	3	1	3	2	4	3	3	2	1	0			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:7578419C>A	ENST00000420246.2	-	5	643	c.511G>T	c.(511-513)Gag>Tag	p.E171*	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Nonsense_Mutation_p.E171*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E171*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E171*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E171*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E171*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E171K(11)|p.E171*(10)|p.0?(8)|p.E171Q(4)|p.E171fs*2(3)|p.E171fs*3(2)|p.E171fs*10(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171_V172delEV(1)|p.E39K(1)|p.E78K(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCACAACCTCCGTCATGTGC	0.662		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			69	45					4.67498e-28	5.27112e-28	1	0	A	7578419	C	A	7578419	4	1	65	1	0	0	0	0	0	1	0	0	16476	864	30	2	787	2	TP53	17	7578419	Nonsense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	162919	7578419	73616791	114	12906											
DNAH2	146754	broad.mit.edu	37	chr17	7734485	7734485	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatcagcttattgcctggCatggacccccctgaggcctt	7	11	9	14	0	1	1	1	1	0	0	1	2	1	2	5	3	3	2	5	3	2	4			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:7734485C>T	ENST00000572933.1	+	80	13772	c.12312C>T	c.(12310-12312)ggC>ggT	p.G4104G	DNAH2_ENST00000389173.2_Silent_p.G4104G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4104					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATTGCCTGGCATGGACCCCC	0.507													170	429					0	0	0	0	T	7734485	C	T	7734485	2	4	65	1	0	0	0	0	0	0	0	1	4639	697	25	4		4	DNAH2	17	7734485	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	156066	7734485	73460725	115	12907											
MYH8	4626	broad.mit.edu	37	chr17	10295236	10295236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtatgatttcaccttcGcctgtaatttatctaccaag	9	17	5	10	1	3	1	1	1	2	0	4	1	3	1	3	0	1	2	3	0	5	8			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:10295236G>A	ENST00000403437.2	-	39	5721	c.5627C>T	c.(5626-5628)gCg>gTg	p.A1876V	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1876					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTCACCTTCGCCTGTAATTT	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				115	282					0	0	0	0	A	10295236	G	A	10295236	3	1	65	1	0	0	0	0	1	0	0	0	10111	1087	38	1	194	1	MYH8	17	10295236	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	2560751	10295236	70899974	116	12908											
MPRIP	23164	broad.mit.edu	37	chr17	17079760	17079760	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcttattgcgggtaaaggaAtcggaaatacagtacctgaa	14	10	11	6	2	1	1	0	1	1	0	2	3	1	3	1	3	3	2	1	3	8	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:17079760A>G	ENST00000395811.5	+	20	2819	c.2730A>G	c.(2728-2730)gaA>gaG	p.E910E	MPRIP_ENST00000395804.3_Silent_p.E910E|MPRIP_ENST00000341712.4_Silent_p.E910E|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Silent_p.E872E	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	910						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GGGTAAAGGAATCGGAAATAC	0.532													77	190					0	0	0	0	G	17079760	A	G	17079760	2	3	65	1	0	0	0	0	0	0	0	1	9813	98	4	5		5	MPRIP	17	17079760	Silent	SNP	A	TCGA-CN-4731-01A-01D-1434-08	6784524	17079760	64115450	117	12909											
TRAF4	9618	broad.mit.edu	37	chr17	27075534	27075534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctgtggccccagagccaCcagtaccagtgcccaaggct	8	7	10	16	0	1	1	0	0	1	1	1	1	1	1	6	2	3	2	6	2	2	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:27075534C>T	ENST00000262395.5	+	6	759	c.630C>T	c.(628-630)caC>caT	p.H210H	TRAF4_ENST00000444415.3_Silent_p.H210H|TRAF4_ENST00000262396.6_Intron	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	210					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CCCAGAGCCACCAGTACCAGT	0.597													12	32					0	0	0	0	T	27075534	C	T	27075534	2	4	65	1	0	0	0	0	0	0	0	1	16538	506	18	4		4	TRAF4	17	27075534	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	9995774	27075534	54119676	118	12910											
SLFN11	91607	broad.mit.edu	37	chr17	33690685	33690685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taataaagcacatgcagcccGcataactctctccttctctt	11	12	4	14	1	2	0	0	0	2	0	5	0	3	0	2	0	4	3	2	0	4	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:33690685G>A	ENST00000394566.1	-	4	414	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	SLFN11_ENST00000308377.4_Missense_Mutation_p.R48W	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	48						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATGCAGCCCGCATAACTCTC	0.458													6	393					0	0	0	0	A	33690685	G	A	33690685	3	1	65	1	0	0	0	0	1	0	0	0	14821	1086	38	1	2579	1	SLFN11	17	33690685	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	6615151	33690685	47504525	119	12911											
COL1A1	1277	broad.mit.edu	37	chr17	48263803	48263803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacgcaggtctcaccagtctCcatgttgcagaagactttga	10	10	9	12	1	2	3	1	1	2	2	4	3	2	3	2	1	1	3	2	1	1	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:48263803C>T	ENST00000225964.5	-	49	3998	c.3880G>A	c.(3880-3882)Gag>Aag	p.E1294K		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1294	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCACCAGTCTCCATGTTGCAG	0.552			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						50	98					0	0	0	0	T	48263803	C	T	48263803	3	4	65	1	0	0	0	0	1	0	0	0	3707	864	30	2	526	2	COL1A1	17	48263803	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	14573118	48263803	32931407	120	12912											
LUC7L3	51747	broad.mit.edu	37	chr17	48823124	48823124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacctgatcgtgatgagcGtctaaaaaaggagaagcaag	17	6	12	6	2	1	5	0	3	1	2	2	6	1	5	1	1	3	1	1	1	6	1	rs146274793	byFrequency	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:48823124G>A	ENST00000505658.1	+	8	926	c.737G>A	c.(736-738)cGt>cAt	p.R246H	LUC7L3_ENST00000544170.1_Missense_Mutation_p.R170H|LUC7L3_ENST00000240304.1_Missense_Mutation_p.R246H|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R246H			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	246	Arg/Ser-rich.|Glu-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						CGTGATGAGCGTCTAAAAAAG	0.363													14	26					0	0	0	0	A	48823124	G	A	48823124	3	1	65	1	0	0	0	0	1	0	0	0	9148	1145	40	1	767	1	LUC7L3	17	48823124	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	559321	48823124	32372086	121	12913											
BCAS3	54828	broad.mit.edu	37	chr17	59115302	59115302	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattatcagttgctatggCaccttagtggaacacatgat	12	13	8	8	0	1	1	1	1	0	0	1	2	1	2	1	2	3	3	1	2	5	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:59115302C>A	ENST00000589222.1	+	18	1883	c.1815C>A	c.(1813-1815)ggC>ggA	p.G605G	BCAS3_ENST00000408905.3_Silent_p.G605G|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000585744.1_Silent_p.G391G|BCAS3_ENST00000588462.1_Silent_p.G620G|BCAS3_ENST00000390652.5_Silent_p.G620G|BCAS3_ENST00000407086.3_Silent_p.G605G|BCAS3_ENST00000588874.1_Silent_p.G376G			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	620						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GTTGCTATGGCACCTTAGTGG	0.478													252	113					8.49039e-111	9.90545e-111	1	0	A	59115302	C	A	59115302	2	1	65	1	0	0	0	0	0	0	0	1	1356	697	25	4		4	BCAS3	17	59115302	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	10292178	59115302	22079908	122	12914											
FTSJ3	117246	broad.mit.edu	37	chr17	61897782	61897782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccggaagctccccctcatCctcattaaatgtgtacctga	9	11	6	15	1	2	1	2	1	0	0	5	2	5	2	5	1	2	2	5	1	4	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:61897782C>T	ENST00000427159.2	-	19	2734	c.2089G>A	c.(2089-2091)Gat>Aat	p.D697N		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	697					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCCCCCTCATCCTCATTAAAT	0.498													56	143					0	0	0	0	T	61897782	C	T	61897782	3	4	65	1	0	0	0	0	1	0	0	0	6137	855	30	2	466	2	FTSJ3	17	61897782	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	2782480	61897782	19297428	123	12915											
EPB41L3	23136	broad.mit.edu	37	chr18	5397351	5397351	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggtctcctgcaccaccttCtcagtgctaagcggcaggtg	7	9	11	14	2	2	0	1	0	2	0	4	0	2	0	3	3	3	3	3	3	1	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr18:5397351C>G	ENST00000341928.2	-	18	2887	c.2547G>C	c.(2545-2547)gaG>gaC	p.E849D	EPB41L3_ENST00000544123.1_Missense_Mutation_p.E680D|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E627D|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E849D|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E627D|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E154D|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E146D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	849	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCACCACCTTCTCAGTGCTAA	0.592													44	69					0	0	0	0	G	5397351	C	G	5397351	3	3	65	1	0	0	0	0	1	0	0	0	5192	912	32	2	736	2	EPB41L3	18	5397351	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08		5397351	72679897	124	12916											
RIOK3	8780	broad.mit.edu	37	chr18	21053506	21053506	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatatattaaagatgattTcaggtttaaagatcgcttca	16	14	6	5	1	2	3	2	1	0	2	3	3	2	3	0	1	0	2	0	1	7	7			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr18:21053506T>A	ENST00000339486.3	+	8	1546	c.929T>A	c.(928-930)tTc>tAc	p.F310Y	RIOK3_ENST00000581585.1_Missense_Mutation_p.F294Y|RIOK3_ENST00000577501.1_Missense_Mutation_p.F310Y	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	310	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAGATGATTTCAGGTTTAAA	0.328													22	56					0	0	0	0	A	21053506	T	A	21053506	3	1	65	1	0	0	0	0	1	0	0	0	13464	1783	62	5	959	5	RIOK3	18	21053506	Missense_Mutation	SNP	T	TCGA-CN-4731-01A-01D-1434-08	15656155	21053506	57023742	125	12917											
ST8SIA3	51046	broad.mit.edu	37	chr18	55024676	55024676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtccaactggcttggccgGgaaatataatgcaacatgtc	13	9	10	9	1	0	0	0	0	0	0	2	1	1	1	2	3	3	2	2	3	6	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr18:55024676G>A	ENST00000324000.3	+	3	2869	c.835G>A	c.(835-837)Gga>Aga	p.G279R		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	279					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GGCTTGGCCGGGAAATATAAT	0.408													57	142					0	0	0	0	A	55024676	G	A	55024676	3	1	65	1	0	0	0	0	1	0	0	0	15323	1233	43	4	845	4	ST8SIA3	18	55024676	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	33971170	55024676	23052572	126	12918											
DOCK6	57572	broad.mit.edu	37	chr19	11363491	11363491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcccgggctccgtggtccgGcattcccggggctgcagcag	4	7	15	15	4	0	0	0	0	0	0	4	0	4	0	4	5	2	5	4	5	0	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:11363491G>A	ENST00000294618.7	-	3	287	c.276C>T	c.(274-276)tgC>tgT	p.C92C		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	92					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCGTGGTCCGGCATTCCCGGG	0.637													3	44					0	0	0	0	A	11363491	G	A	11363491	2	1	65	1	0	0	0	0	0	0	0	1	4727	1195	42	4		4	DOCK6	19	11363491	Silent	SNP	G	TCGA-CN-4731-01A-01D-1434-08		11363491	47765492	127	12919											
CACNA1A	773	broad.mit.edu	37	chr19	13323202	13323202	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggggacagaggcacctgaGagttaggctggctgttgggc	7	8	19	7	0	0	2	0	1	0	2	0	4	0	3	1	6	0	5	1	6	1	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:13323202G>C	ENST00000360228.5	-	42	6184	c.6185C>G	c.(6184-6186)tCt>tGt	p.S2062C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S2063C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2063					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGGCACCTGAGAGTTAGGCTG	0.647													5	36					0	0	0	0	C	13323202	G	C	13323202	3	2	65	1	0	0	0	0	1	0	0	0	2563	942	33	2	1359	2	CACNA1A	19	13323202	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	1959711	13323202	45805781	128	12920											
ABHD8	79575	broad.mit.edu	37	chr19	17412027	17412027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgctgcctgcgctgccGggggccaagcggccatcgct	3	6	15	17	5	0	0	0	0	0	0	1	0	0	0	5	3	5	3	5	3	1	0			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:17412027G>A	ENST00000247706.3	-	2	638	c.399C>T	c.(397-399)ccC>ccT	p.P133P	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	133							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ctgcgctgccgGGGGCCAAGC	0.716													9	14					0	0	0	0	A	17412027	G	A	17412027	2	1	65	1	0	0	0	0	0	0	0	1	87	1103	39	1		1	ABHD8	19	17412027	Silent	SNP	G	TCGA-CN-4731-01A-01D-1434-08	4088825	17412027	41716956	129	12921											
ZNF529	57711	broad.mit.edu	37	chr19	37038095	37038095	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagtctaaagaactttccAcactccttacattcataagg	14	12	5	10	0	2	1	1	0	1	1	4	1	4	1	2	1	2	1	2	1	6	6			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:37038095A>G	ENST00000334116.7	-	6	1660	c.1050T>C	c.(1048-1050)tgT>tgC	p.C350C	ZNF529_ENST00000591340.1_Silent_p.C455C	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					AGAACTTTCCACACTCCTTAC	0.368													25	76					0	0	0	0	G	37038095	A	G	37038095	2	3	65	1	0	0	0	0	0	0	0	1	18065	157	6	5		5	ZNF529	19	37038095	Silent	SNP	A	TCGA-CN-4731-01A-01D-1434-08	19626068	37038095	22090888	130	12922											
ZNF546	339327	broad.mit.edu	37	chr19	40520097	40520097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctacgagtgtaaggaatgtgGgaaagcctttagtcgtgtta	11	12	13	5	2	0	0	0	0	0	0	1	3	0	2	1	2	2	2	1	2	6	5			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:40520097G>A	ENST00000347077.4	+	7	1136	c.920G>A	c.(919-921)gGg>gAg	p.G307E	ZNF546_ENST00000600094.1_Missense_Mutation_p.G281E|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGAATGTGGGAAAGCCTTT	0.408													71	158					0	0	0	0	A	40520097	G	A	40520097	3	1	65	1	0	0	0	0	1	0	0	0	18073	1232	43	4	938	4	ZNF546	19	40520097	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	3482002	40520097	18608886	131	12923											
LILRA2	11027	broad.mit.edu	37	chr19	55087422	55087422	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatcccccactgcatctGagatcagagcaccaagctca	11	6	8	16	0	3	2	2	1	1	2	4	3	4	2	4	1	3	3	4	1	1	0			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:55087422G>T	ENST00000251377.3	+	7	1234	c.1101G>T	c.(1099-1101)ctG>ctT	p.L367L	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.L355L|LILRA2_ENST00000391738.3_Silent_p.L367L|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.L367L|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CACTGCATCTGAGATCAGAGC	0.587													52	82					4.33383e-22	4.79003e-22	1	0	T	55087422	G	T	55087422	2	4	65	1	0	0	0	0	0	0	0	1	8839	1277	45	2		2	LILRA2	19	55087422	Silent	SNP	G	TCGA-CN-4731-01A-01D-1434-08	14567325	55087422	4041561	132	12924											
NCR1	9437	broad.mit.edu	37	chr19	55417683	55417683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgagtcagaggatcagcGcccagcagcgtgagtccttc	8	8	13	12	2	3	3	2	2	1	1	5	4	4	4	2	1	3	1	2	1	0	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:55417683G>A	ENST00000594765.1	+	2	86	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	NCR1_ENST00000357397.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.A21T|NCR1_ENST00000350790.5_Missense_Mutation_p.A21T|NCR1_ENST00000598576.1_Intron|NCR1_ENST00000338835.5_Missense_Mutation_p.A21T|NCR1_ENST00000291890.4_Missense_Mutation_p.A21T			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	21					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GAGGATCAGCGCCCAGCAGCG	0.612													32	56					0	0	0	0	A	55417683	G	A	55417683	3	1	65	1	0	0	0	0	1	0	0	0	10307	1087	38	1	67	1	NCR1	19	55417683	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08	330261	55417683	3711300	133	12925											
ZNF549	256051	broad.mit.edu	37	chr19	58048899	58048900	+	Frame_Shift_Del	DEL	CT	CT	-																															tctgaatagctgcaaaattcCtctgtcagacaatcttttcc																										TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:58048899_58048900delCT	ENST00000376233.3	+	4	708_709	c.527_528delCT	c.(526-528)cfs	p.P176fs	ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Frame_Shift_Del_p.P163fs	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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;0.026)		TGCAAAATTCCTCTGTCAGACA	0.475													27	59	---	---	---	---					-	58048900	CT	-	58048899	7	5	65	1	0	1	0	1	0	0	0	0	18076	681	24	0	498	0	ZNF549	19	58048899	Frame_Shift_Del	DEL	CT	TCGA-CN-4731-01A-01D-1434-08	2631216	58048899	1080084	134	12926											
ISM1	140862	broad.mit.edu	37	chr20	13251361	13251361	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccagatctttccaaagctGatatcaatgggcagaatcca	13	11	7	10	0	2	3	1	1	1	2	5	3	5	3	3	1	1	2	3	1	4	3			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:13251361G>C	ENST00000262487.3	+	2	355	c.349G>C	c.(349-351)Gat>Cat	p.D117H	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	117						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TTCCAAAGCTGATATCAATGG	0.443													7	45					0	0	0	0	C	13251361	G	C	13251361	3	2	65	1	0	0	0	0	1	0	0	0	7913	1290	45	2	355	2	ISM1	20	13251361	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08		13251361	49774159	135	12927											
PYGB	5834	broad.mit.edu	37	chr20	25262777	25262777	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggctggccgataccatCgtggaggtgagtcccgggcc	5	6	17	13	4	0	1	0	1	0	0	2	3	1	2	5	6	1	1	5	6	1	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:25262777C>A	ENST00000216962.4	+	12	1622	c.1512C>A	c.(1510-1512)atC>atA	p.I504I		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	504					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CCGATACCATCGTGGAGGTGA	0.622													5	47					0.000673444	0.000689869	1	0	A	25262777	C	A	25262777	2	1	65	1	0	0	0	0	0	0	0	1	12942	874	31	3		3	PYGB	20	25262777	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	12011416	25262777	37762743	136	12928											
TTLL9	164395	broad.mit.edu	37	chr20	30497542	30497542	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttcccgccacccagctGacccggaagaactacatggt	9	7	9	16	2	0	2	0	1	0	1	2	3	2	3	5	2	3	1	5	2	3	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:30497542G>T	ENST00000375938.4	+	6	574	c.321G>T	c.(319-321)ctG>ctT	p.L107L	TTLL9_ENST00000310998.4_Silent_p.L57L|TTLL9_ENST00000375922.4_Silent_p.L57L|TTLL9_ENST00000535842.1_Silent_p.L107L|TTLL9_ENST00000375921.2_Silent_p.L57L|TTLL9_ENST00000375934.4_Silent_p.L89L			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	107	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCACCCAGCTGACCCGGAAGA	0.632													16	53					1.5739e-10	1.65259e-10	1	0	T	30497542	G	T	30497542	2	4	65	1	0	0	0	0	0	0	0	1	16830	1277	45	2		2	TTLL9	20	30497542	Silent	SNP	G	TCGA-CN-4731-01A-01D-1434-08	5234765	30497542	32527978	137	12929											
KCNS1	3787	broad.mit.edu	37	chr20	43726837	43726837	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcgccgcgccatagcgCgccagttctcgctgcacgtc	5	6	12	18	8	1	0	0	0	1	0	3	0	1	0	3	0	3	3	3	0	1	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:43726837C>T	ENST00000306117.1	-	4	972	c.576G>A	c.(574-576)gcG>gcA	p.A192A	KCNS1_ENST00000537075.1_Silent_p.A192A	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	192						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CGCCATAGCGCGCCAGTTCTC	0.716													7	24					0	0	0	0	T	43726837	C	T	43726837	2	4	65	1	0	0	0	0	0	0	0	1	8141	755	27	1		1	KCNS1	20	43726837	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	13229295	43726837	19298683	138	12930											
EEF1A2	1917	broad.mit.edu	37	chr20	62126260	62126264	+	Frame_Shift_Del	DEL	TTCCT	TTCCT	-																															ttcttgatgtaggcgctgacTtccttgacgatctcgtcgta																										TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:62126260_62126264delTTCCT	ENST00000217182.3	-	4	680_684	c.515_519delAGGAA	c.(514-519)afs	p.KE172fs	EEF1A2_ENST00000298049.7_Frame_Shift_Del_p.KE172fs	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	172						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			AGGCGCTGACTTCCTTGACGATCTC	0.605													14	147	---	---	---	---					-	62126264	TTCCT	-	62126260	7	5	65	1	0	1	0	1	0	0	0	0	4960	1606	56	0	892	0	EEF1A2	20	62126260	Frame_Shift_Del	DEL	TTCCT	TCGA-CN-4731-01A-01D-1434-08	18399423	62126260	899260	139	12931											
EMID1	129080	broad.mit.edu	37	chr22	29654896	29654896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggacatgcaaccaactaccGgatcgtggcccccaggagcc	10	4	11	16	3	0	0	0	0	0	0	1	3	0	3	5	4	5	1	5	4	3	1	rs138347786		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:29654896G>A	ENST00000334018.6	+	15	1483	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	EMID1_ENST00000404820.3_Missense_Mutation_p.R434Q|EMID1_ENST00000404755.3_Missense_Mutation_p.R411Q	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	430						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						ACCAACTACCGGATCGTGGCC	0.716													23	47					0	0	0	0	A	29654896	G	A	29654896	3	1	65	1	0	0	0	0	1	0	0	0	5129	1116	39	1	1353	1	EMID1	22	29654896	Missense_Mutation	SNP	G	TCGA-CN-4731-01A-01D-1434-08		29654896	21649670	140	12932											
LARGE	9215	broad.mit.edu	37	chr22	34046371	34046371	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgcatttctccacgacCggctgctgcccacactcgga	7	8	8	18	4	1	0	0	0	1	0	4	2	1	1	4	2	2	3	4	2	0	1	rs114558328	by1000genomes	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:34046371C>A	ENST00000354992.2	-	4	961	c.390G>T	c.(388-390)ccG>ccT	p.P130P	LARGE_ENST00000397394.2_Silent_p.P130P|LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000402320.1_Silent_p.P130P|LARGE_ENST00000337431.2_Silent_p.P130P|LARGE_ENST00000437602.2_Silent_p.P130P	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	130					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCTCCACGACCGGCTGCTGCC	0.597													52	143					2.165e-29	2.45757e-29	1	0	A	34046371	C	A	34046371	2	1	65	1	0	0	0	0	0	0	0	1	8680	639	23	3		3	LARGE	22	34046371	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	4391475	34046371	17258195	141	12933											
CSF2RB	1439	broad.mit.edu	37	chr22	37325494	37325494	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagcaccgaccaggaccacTtcctgctgacctggagtgtg	8	8	11	14	1	1	1	1	1	0	0	2	4	2	3	5	2	2	2	5	2	0	1			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:37325494T>A	ENST00000262825.5	+	5	659	c.442T>A	c.(442-444)Ttc>Atc	p.F148I	CSF2RB_ENST00000403662.3_Missense_Mutation_p.F148I|CSF2RB_ENST00000406230.1_Missense_Mutation_p.F148I|CSF2RB_ENST00000536485.1_Missense_Mutation_p.F89I	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	148	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCAGGACCACTTCCTGCTGAC	0.637													99	184					0	0	0	0	A	37325494	T	A	37325494	3	1	65	1	0	0	0	0	1	0	0	0	3967	1609	56	5	456	5	CSF2RB	22	37325494	Missense_Mutation	SNP	T	TCGA-CN-4731-01A-01D-1434-08	3279123	37325494	13979072	142	12934											
MEI1	150365	broad.mit.edu	37	chr22	42180639	42180639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttatgcttcctgcggacagCcctgcgacaaagcttttcct	7	12	8	14	2	0	0	0	0	0	0	2	2	2	1	3	1	5	2	3	1	2	4			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:42180639C>T	ENST00000401548.3	+	26	3237	c.3197C>T	c.(3196-3198)gCc>gTc	p.A1066V	MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.A399V|MEI1_ENST00000300398.4_Missense_Mutation_p.A74V	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1066							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTGCGGACAGCCCTGCGACAA	0.597													3	60					0	0	0	0	T	42180639	C	T	42180639	3	4	65	1	0	0	0	0	1	0	0	0	9534	739	26	4	3299	4	MEI1	22	42180639	Missense_Mutation	SNP	C	TCGA-CN-4731-01A-01D-1434-08	4855145	42180639	9123927	143	12935											
FAM120C	54954	broad.mit.edu	37	chrX	54209173	54209190	+	In_Frame_Del	DEL	CAGCGCTGACAAGTAGCC	CAGCGCTGACAAGTAGCC	-																															ggataggcacaagcctggcaCagcgctgacaagtagcccag																										TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chrX:54209173_54209190delCAGCGCTGACAAGTAGCC	ENST00000375180.2	-	1	498_515	c.442_459delGGCTACTTGTCAGCGCTG	c.(442-459)del	p.GYLSAL148del	FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000477084.1_In_Frame_Del_p.GYLSAL148del|FAM120C_ENST00000328235.4_In_Frame_Del_p.GYLSAL148del	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	148										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAGCCTGGCACAGCGCTGACAAGTAGCCCAGCATGGCG	0.711													7	18	---	---	---	---					-	54209190	CAGCGCTGACAAGTAGCC	-	54209173	7	5	65	1	0	1	0	1	0	0	0	0	5459	465	17	0	2917	0	FAM120C	23	54209173	In_Frame_Del	DEL	CAGCGCTGACAAGTAGCC	TCGA-CN-4731-01A-01D-1434-08		54209173	101061387	144	12936											
PDZD11	51248	broad.mit.edu	37	chrX	69507978	69507978	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataaataccttggagatgaAgatgcctagctgggaggcct	12	9	12	8	0	0	3	0	1	0	2	0	5	0	4	3	3	3	1	3	3	5	4			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chrX:69507978A>C	ENST00000239666.4	-	4	349	c.217T>G	c.(217-219)Ttc>Gtc	p.F73V	PDZD11_ENST00000473667.1_5'UTR|PDZD11_ENST00000374454.1_Missense_Mutation_p.F73V	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	73	PDZ.					basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						TTGGAGATGAAGATGCCTAGC	0.463													15	19					0	0	0	0	C	69507978	A	C	69507978	3	2	65	1	0	0	0	0	1	0	0	0	11771	72	3	5	221	5	PDZD11	23	69507978	Missense_Mutation	SNP	A	TCGA-CN-4731-01A-01D-1434-08	15298805	69507978	85762582	145	12937											
SLC6A8	6535	broad.mit.edu	37	chrX	152956769	152956769	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggccccaggcctgggctaCgcctccatggtgatcgtctt	4	9	12	16	3	1	1	0	1	1	0	3	1	2	1	6	4	1	1	6	4	1	2			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chrX:152956769C>T	ENST00000253122.5	+	3	881	c.405C>T	c.(403-405)taC>taT	p.Y135Y	SLC6A8_ENST00000430077.2_Silent_p.Y20Y	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	135					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GCCTGGGCTACGCCTCCATGG	0.602													3	25					0	0	0	0	T	152956769	C	T	152956769	2	4	65	1	0	0	0	0	0	0	0	1	14778	547	19	1		1	SLC6A8	23	152956769	Silent	SNP	C	TCGA-CN-4731-01A-01D-1434-08	83448791	152956769	2313791	146	12938											
KIF1B	23095	broad.mit.edu	37	chr1	10363666	10363666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagatcgaagacgtcatggCcactgggaaaggcagcactg	13	5	14	9	2	1	2	1	0	0	2	2	5	1	3	1	3	1	2	1	3	3	0			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:10363666C>T	ENST00000377093.4	+	21	2576	c.2423C>T	c.(2422-2424)gCc>gTc	p.A808V	KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.A808V	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GACGTCATGGCCACTGGGAAA	0.498													4	57					0	0	0	0	T	10363666	C	T	10363666	3	4	66	1	0	0	0	0	1	0	0	0	8335	739	26	4	2501	4	KIF1B	1	10363666	Missense_Mutation	SNP	C	TCGA-CN-4733-01A-02D-1870-08		10363666	238886955	1	12939											
C1orf158	93190	broad.mit.edu	37	chr1	12819314	12819314	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgatcagcacctatgaCgaccattacaaccggcatgg	12	8	8	13	2	1	2	1	2	0	0	1	3	1	2	4	2	4	2	4	2	4	3			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:12819314C>T	ENST00000288048.5	+	3	513	c.297C>T	c.(295-297)gaC>gaT	p.D99D	C1orf158_ENST00000376210.3_Silent_p.D61D	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	99										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCTATGACGACCATTACA	0.567													9	175					0	0	0	0	T	12819314	C	T	12819314	2	4	66	1	0	0	0	0	0	0	0	1	2026	535	19	1		1	C1orf158	1	12819314	Silent	SNP	C	TCGA-CN-4733-01A-02D-1870-08	2455648	12819314	236431307	2	12940											
TAS1R2	80834	broad.mit.edu	37	chr1	19166791	19166791	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccaccagcagcagtgtcaGcatcaggaagcacatggggc	11	5	13	12	0	2	0	2	0	0	0	2	1	2	1	2	3	5	4	2	3	1	0			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:19166791G>A	ENST00000375371.3	-	6	1843	c.1822C>T	c.(1822-1824)Ctg>Ttg	p.L608L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	608					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGCAGTGTCAGCATCAGGAAG	0.632													4	96					0	0	0	0	A	19166791	G	A	19166791	2	1	66	1	0	0	0	0	0	0	0	1	15654	962	34	4		4	TAS1R2	1	19166791	Silent	SNP	G	TCGA-CN-4733-01A-02D-1870-08	6347477	19166791	230083830	3	12941											
EIF4G3	8672	broad.mit.edu	37	chr1	21191633	21191633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggcagcctcaagttctttCtgcttcttctcaaagacatc	8	14	6	13	0	5	1	2	0	4	1	7	1	5	1	1	1	2	3	1	1	2	4			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:21191633C>G	ENST00000602326.1	-	19	3178	c.2595G>C	c.(2593-2595)caG>caC	p.Q865H	EIF4G3_ENST00000536266.1_Missense_Mutation_p.Q463H|EIF4G3_ENST00000374935.3_Missense_Mutation_p.Q579H|EIF4G3_ENST00000400422.1_Missense_Mutation_p.Q859H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.Q865H|EIF4G3_ENST00000264211.8_Missense_Mutation_p.Q859H|EIF4G3_ENST00000537738.1_Missense_Mutation_p.Q349H	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	859	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAAGTTCTTTCTGCTTCTTCT	0.408													3	109					0	0	0	0	G	21191633	C	G	21191633	3	3	66	1	0	0	0	0	1	0	0	0	5076	912	32	2	2248	2	EIF4G3	1	21191633	Missense_Mutation	SNP	C	TCGA-CN-4733-01A-02D-1870-08	2024842	21191633	228058988	4	12942											
ARID1A	8289	broad.mit.edu	37	chr1	27089711	27089711	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtcccccaccagggggCatgaaccggaaaacccaaga	13	4	11	13	1	0	2	0	1	0	1	1	3	1	3	5	3	2	1	5	3	4	0			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:27089711C>T	ENST00000324856.7	+	8	3038	c.2667C>T	c.(2665-2667)ggC>ggT	p.G889G	ARID1A_ENST00000457599.2_Silent_p.G889G|ARID1A_ENST00000374152.2_Silent_p.G506G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	889					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CACCAGGGGGCATGAACCGGA	0.567			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								4	42					0	0	0	0	T	27089711	C	T	27089711	2	4	66	1	0	0	0	0	0	0	0	1	915	697	25	4		4	ARID1A	1	27089711	Silent	SNP	C	TCGA-CN-4733-01A-02D-1870-08	5898078	27089711	222160910	5	12943											
STIL	6491	broad.mit.edu	37	chr1	47717292	47717292	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcactgctttgtaggagtCcatatctcttcatatatttt	8	19	6	8	0	3	0	2	0	1	0	5	1	4	1	1	1	1	2	1	1	4	8			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:47717292C>A	ENST00000360380.3	-	18	3743	c.3380G>T	c.(3379-3381)gGa>gTa	p.G1127V	STIL_ENST00000243182.6_Missense_Mutation_p.G1127V|STIL_ENST00000371877.3_Missense_Mutation_p.G1128V|STIL_ENST00000337817.5_Missense_Mutation_p.G1127V|STIL_ENST00000396221.2_Missense_Mutation_p.G1110V			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1127					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTGTAGGAGTCCATATCTCTT	0.378													7	164					0.00198382	0.00212552	1	0	A	47717292	C	A	47717292	3	1	66	1	0	0	0	0	1	0	0	0	15372	855	30	2	487	2	STIL	1	47717292	Missense_Mutation	SNP	C	TCGA-CN-4733-01A-02D-1870-08	20627581	47717292	201533329	6	12944											
SMG5	23381	broad.mit.edu	37	chr1	156237465	156237465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcagctctgagtccaCggagctacagaggggcagga	10	6	16	9	1	2	3	1	2	1	1	3	5	3	5	1	5	3	3	1	5	1	1			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:156237465C>T	ENST00000361813.5	-	10	1057	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	305					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TCTGAGTCCACGGAGCTACAG	0.572													3	11					0	0	0	0	T	156237465	C	T	156237465	3	4	66	1	0	0	0	0	1	0	0	0	14884	536	19	1	2189	1	SMG5	1	156237465	Missense_Mutation	SNP	C	TCGA-CN-4733-01A-02D-1870-08	108520173	156237465	93013156	7	12945											
XIRP2	129446	broad.mit.edu	37	chr2	168100193	168100193	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacagagaagacgttgaaaAgggagatgtaagaacagcac	18	5	12	6	1	1	5	1	1	0	4	1	7	1	5	0	1	2	3	0	1	5	2			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr2:168100193A>G	ENST00000409195.1	+	9	2380	c.2291A>G	c.(2290-2292)aAg>aGg	p.K764R	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K542R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K764R|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	589					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						GACGTTGAAAAGGGAGATGTA	0.373													3	60					0	0	0	0	G	168100193	A	G	168100193	3	3	66	1	0	0	0	0	1	0	0	0	17526	72	3	5	2321	5	XIRP2	2	168100193	Missense_Mutation	SNP	A	TCGA-CN-4733-01A-02D-1870-08		168100193	75099180	8	12946											
TTLL3	26140	broad.mit.edu	37	chr3	9860559	9860559	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagctggtggtgaagtctGagtggaagtcataccctatt	10	12	12	7	0	3	2	2	2	1	0	3	3	3	3	1	3	2	1	1	3	5	3			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr3:9860559G>C	ENST00000547186.1	+	6	700	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.E305Q|TTLL3_ENST00000383827.1_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Intron	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	162	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GGTGAAGTCTGAGTGGAAGTC	0.577													6	173					0	0	0	0	C	9860559	G	C	9860559	3	2	66	1	0	0	0	0	1	0	0	0	16824	1291	45	2	502	2	TTLL3	3	9860559	Missense_Mutation	SNP	G	TCGA-CN-4733-01A-02D-1870-08		9860559	188161871	9	12947											
JAKMIP1	152789	broad.mit.edu	37	chr4	6083476	6083476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctcggtctctcgtgagcGtttcagctgtggttggaaac	7	12	12	10	3	2	1	1	1	1	0	5	2	2	2	1	3	4	3	1	3	2	2			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr4:6083476G>A	ENST00000409021.3	-	6	1410	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R156C|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R321C|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R156C|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R321C	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	321	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTCGTGAGCGTTTCAGCTGT	0.542													6	70					0	0	0	0	A	6083476	G	A	6083476	3	1	66	1	0	0	0	0	1	0	0	0	7993	1145	40	1	1673	1	JAKMIP1	4	6083476	Missense_Mutation	SNP	G	TCGA-CN-4733-01A-02D-1870-08		6083476	185070800	10	12948											
ANK2	287	broad.mit.edu	37	chr4	114290865	114290865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctcagagcacagagaggaGagctctccgcggaaaaccag	13	3	12	13	2	2	3	1	0	1	3	3	6	2	4	3	2	3	2	3	2	2	0			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr4:114290865G>A	ENST00000357077.4	+	43	11567	c.11514G>A	c.(11512-11514)gaG>gaA	p.E3838E	ANK2_ENST00000509550.1_Silent_p.E929E|ANK2_ENST00000510275.2_Silent_p.E405E|ANK2_ENST00000264366.6_Silent_p.E3805E|ANK2_ENST00000506722.1_Silent_p.E1744E|ANK2_ENST00000394537.3_Silent_p.E1753E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3805					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACAGAGAGGAGAGCTCTCCGC	0.542													7	47					0	0	0	0	A	114290865	G	A	114290865	2	1	66	1	0	0	0	0	0	0	0	1	621	933	33	2		2	ANK2	4	114290865	Silent	SNP	G	TCGA-CN-4733-01A-02D-1870-08	108207389	114290865	76863411	11	12949											
FAT4	79633	broad.mit.edu	37	chr4	126241841	126241841	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctttcctcctggagatatTttcaagtctattgttgagaa	10	16	8	7	0	2	2	1	1	1	2	4	4	4	2	2	1	1	2	2	1	4	7			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr4:126241841T>C	ENST00000394329.3	+	1	4288	c.4275T>C	c.(4273-4275)atT>atC	p.I1425I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1425	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGGAGATATTTTCAAGTCTA	0.423													3	157					0	0	0	0	C	126241841	T	C	126241841	2	2	66	1	0	0	0	0	0	0	0	1	5737	1829	64	5		5	FAT4	4	126241841	Silent	SNP	T	TCGA-CN-4733-01A-02D-1870-08	11950976	126241841	64912435	12	12950											
DNAH5	1767	broad.mit.edu	37	chr5	13692178	13692178	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagatccacagcggcaatgTagttcaagtccgttcgaact	11	10	10	10	3	1	1	1	1	0	1	4	3	3	1	2	1	2	4	2	1	4	3			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr5:13692178T>C	ENST00000265104.4	-	79	13894	c.13790A>G	c.(13789-13791)tAc>tGc	p.Y4597C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4597					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCGGCAATGTAGTTCAAGTC	0.483									Kartagener syndrome				4	76					0	0	0	0	C	13692178	T	C	13692178	3	2	66	1	0	0	0	0	1	0	0	0	4641	1638	57	5	88	5	DNAH5	5	13692178	Missense_Mutation	SNP	T	TCGA-CN-4733-01A-02D-1870-08		13692178	167223082	13	12951											
MDC1	9656	broad.mit.edu	37	chr6	30671883	30671883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcaggggtggtaggaaccgGcatagctcttactgtggaag	9	10	15	7	1	2	0	1	0	1	0	2	2	2	2	1	6	3	3	1	6	5	4			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr6:30671883G>A	ENST00000376406.3	-	10	5724	c.5077C>T	c.(5077-5079)Ccg>Tcg	p.P1693S	MDC1_ENST00000376405.2_Missense_Mutation_p.P1429S|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1693					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GTAGGAACCGGCATAGCTCTT	0.537								Other conserved DNA damage response genes					4	160					0	0	0	0	A	30671883	G	A	30671883	3	1	66	1	0	0	0	0	1	0	0	0	9472	1203	42	4	1216	4	MDC1	6	30671883	Missense_Mutation	SNP	G	TCGA-CN-4733-01A-02D-1870-08		30671883	140443184	14	12952											
TDRD6	221400	broad.mit.edu	37	chr6	46661019	46661019	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgactcagagataaagcaGactcttgggtcctacaatct	13	11	8	9	0	3	3	1	1	2	2	4	4	4	3	1	1	2	1	1	1	4	4			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr6:46661019G>A	ENST00000544460.1	+	1	5408	c.5154G>A	c.(5152-5154)caG>caA	p.Q1718Q	TDRD6_ENST00000316081.6_Silent_p.Q1718Q	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1718					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGATAAAGCAGACTCTTGGGT	0.318													3	59					0	0	0	0	A	46661019	G	A	46661019	2	1	66	1	0	0	0	0	0	0	0	1	15828	933	33	2		2	TDRD6	6	46661019	Silent	SNP	G	TCGA-CN-4733-01A-02D-1870-08	15989136	46661019	124454048	15	12953											
ZAN	7455	broad.mit.edu	37	chr7	100345610	100345611	+	RNA	INS	-	-	AA																															ggcaatagagcaagactctgINSaaaaaaaaaaaaaaagaaag																								rs71686325		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr7:100345610_100345611insAA	ENST00000542585.1	+	0	1171				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			gcaagactctgaaaaaaaaaaa	0.505													3	3	---	---	---	---					AA	100345611	-	AA	100345610	6	5	66	0	1	1	1	0	0	0	0	0	17609	1305	45	0		0	ZAN	7	100345610	RNA	INS	-	TCGA-CN-4733-01A-02D-1870-08		100345610	58793053	16	12954											
NAPEPLD	222236	broad.mit.edu	37	chr7	102760426	102760426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtgactgataaggaccGcatctattggagggagttca	10	11	14	6	1	2	2	1	2	1	0	2	5	2	5	1	4	0	3	1	4	2	5			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr7:102760426G>A	ENST00000417955.1	-	3	693	c.539C>T	c.(538-540)gCg>gTg	p.A180V	NAPEPLD_ENST00000465647.1_Missense_Mutation_p.A180V|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.A180V|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.A253V|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.A180V			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	180					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GATAAGGACCGCATCTATTGG	0.463													4	157					0	0	0	0	A	102760426	G	A	102760426	3	1	66	1	0	0	0	0	1	0	0	0	10233	1087	38	1	654	1	NAPEPLD	7	102760426	Missense_Mutation	SNP	G	TCGA-CN-4733-01A-02D-1870-08	2414816	102760426	56378237	17	12955											
PAPPA	5069	broad.mit.edu	37	chr9	119124919	119124919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagatggcacctggaacGgctccttccatgtctgccag	9	8	12	12	1	1	1	0	0	1	1	3	3	3	3	4	4	2	2	4	4	2	1			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr9:119124919G>A	ENST00000328252.3	+	18	4765	c.4396G>A	c.(4396-4398)Ggc>Agc	p.G1466S	PAPPA_ENST00000534838.1_Missense_Mutation_p.G504S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1466	Sushi 4.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACCTGGAACGGCTCCTTCCA	0.532													4	104					0	0	0	0	A	119124919	G	A	119124919	3	1	66	1	0	0	0	0	1	0	0	0	11503	1116	39	1	4466	1	PAPPA	9	119124919	Missense_Mutation	SNP	G	TCGA-CN-4733-01A-02D-1870-08		119124919	22088512	18	12956											
OR5D16	390144	broad.mit.edu	37	chr11	55606601	55606601	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgatggcctatgaccactTtgtggccatttgcaatcctc	7	13	10	11	0	0	2	0	2	0	0	2	2	1	2	4	3	1	1	4	3	2	3			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr11:55606601T>C	ENST00000378396.1	+	1	374	c.374T>C	c.(373-375)tTt>tCt	p.F125S		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TATGACCACTTTGTGGCCATT	0.443													4	123					0	0	0	0	C	55606601	T	C	55606601	3	2	66	1	0	0	0	0	1	0	0	0	11227	1841	64	5	376	5	OR5D16	11	55606601	Missense_Mutation	SNP	T	TCGA-CN-4733-01A-02D-1870-08		55606601	79399915	19	12957											
DDX6	1656	broad.mit.edu	37	chr11	118625459	118625459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaggctcgctgtggtattCtgccacatacaggctcttat	8	13	9	11	1	2	0	0	0	2	0	3	0	2	0	1	3	3	4	1	3	4	5			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr11:118625459C>G	ENST00000264018.4	-	13	1719	c.1414G>C	c.(1414-1416)Gaa>Caa	p.E472Q	DDX6_ENST00000534980.1_Missense_Mutation_p.E472Q|DDX6_ENST00000526070.2_Missense_Mutation_p.E472Q	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	472					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CTGTGGTATTCTGCCACATAC	0.423			T	IGH@	B-NHL								7	159					0	0	0	0	G	118625459	C	G	118625459	3	3	66	1	0	0	0	0	1	0	0	0	4409	922	32	2	41	2	DDX6	11	118625459	Missense_Mutation	SNP	C	TCGA-CN-4733-01A-02D-1870-08	63018858	118625459	16381057	20	12958											
ARHGEF12	23365	broad.mit.edu	37	chr11	120316154	120316154	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaagtttctgttcctgaTgaaatgtctgcagatctagg	10	14	10	7	0	3	4	0	3	3	1	4	4	4	4	1	1	1	3	1	1	3	3			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr11:120316154T>A	ENST00000397843.2	+	16	1492	c.1326T>A	c.(1324-1326)gaT>gaA	p.D442E	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D423E|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D339E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	442	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTGTTCCTGATGAAATGTCTG	0.353			T	MLL	AML								3	86					0	0	0	0	A	120316154	T	A	120316154	3	1	66	1	0	0	0	0	1	0	0	0	899	1461	51	5	1388	5	ARHGEF12	11	120316154	Missense_Mutation	SNP	T	TCGA-CN-4733-01A-02D-1870-08	1690695	120316154	14690362	21	12959											
ERC1	23085	broad.mit.edu	37	chr12	1221439	1221439	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaatgggaggagctgaaaaAgaaagcggctggtcttcagg	13	7	15	6	1	3	2	2	1	1	1	3	4	3	4	0	5	2	2	0	5	4	1			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr12:1221439A>T	ENST00000397203.2	+	6	1782	c.1376A>T	c.(1375-1377)aAg>aTg	p.K459M	ERC1_ENST00000360905.4_Missense_Mutation_p.K459M|ERC1_ENST00000546231.2_Missense_Mutation_p.K459M|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000543086.3_Intron|ERC1_ENST00000355446.5_Missense_Mutation_p.K459M|ERC1_ENST00000589028.1_Missense_Mutation_p.K459M			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	459					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAGCTGAAAAAGAAAGCGGCT	0.468													7	127					0	0	0	0	T	1221439	A	T	1221439	3	4	66	1	0	0	0	0	1	0	0	0	5248	72	3	5	1394	5	ERC1	12	1221439	Missense_Mutation	SNP	A	TCGA-CN-4733-01A-02D-1870-08		1221439	132630456	22	12960											
CLEC4D	338339	broad.mit.edu	37	chr12	8672931	8672931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagacgccatttaacccacGcagagtgtaagtatattgag	13	9	9	10	2	0	3	0	1	0	2	0	3	0	3	3	0	1	3	3	0	4	6			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr12:8672931G>A	ENST00000299665.2	+	5	687	c.494G>A	c.(493-495)cGc>cAc	p.R165H		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	165	C-type lectin.				innate immune response	integral to membrane	sugar binding	p.R165H(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TTTAACCCACGCAGAGTGTAA	0.418													5	78					0	0	0	0	A	8672931	G	A	8672931	3	1	66	1	0	0	0	0	1	0	0	0	3544	1087	38	1	512	1	CLEC4D	12	8672931	Missense_Mutation	SNP	G	TCGA-CN-4733-01A-02D-1870-08	7451492	8672931	125178964	23	12961											
TMPO	7112	broad.mit.edu	37	chr12	98941400	98941400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggccggccattagaaCtcagtgatttcaggatggag	10	9	13	9	1	2	2	2	1	0	1	2	4	2	4	2	4	2	1	2	4	2	2			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr12:98941400C>T	ENST00000556029.1	+	9	1485	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	TMPO_ENST00000343315.5_Missense_Mutation_p.L337F|TMPO_ENST00000393053.2_Missense_Mutation_p.L268F|TMPO_ENST00000548223.1_3'UTR	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	377	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCATTAGAACTCAGTGATTT	0.428													6	58					0	0	0	0	T	98941400	C	T	98941400	3	4	66	1	0	0	0	0	1	0	0	0	16331	565	20	4	2687	4	TMPO	12	98941400	Missense_Mutation	SNP	C	TCGA-CN-4733-01A-02D-1870-08	90268469	98941400	34910495	24	12962											
SLC17A8	246213	broad.mit.edu	37	chr12	100784777	100784777	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctgatttctcatttccAgacagcacagtttaactggg	11	14	7	9	0	2	2	1	1	2	1	4	2	3	2	1	1	2	2	1	1	2	5			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr12:100784777A>G	ENST00000323346.5	+	3	667		c.e3-1		SLC17A8_ENST00000392989.3_Splice_Site	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8						neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCTCATTTCCAGACAGCACAG	0.378													8	92					0	0	0	0	G	100784777	A	G	100784777	5	3	66	1	0	0	0	0	0	0	1	0	14511	202	7	5	363	5	SLC17A8	12	100784777	Splice_Site	SNP	A	TCGA-CN-4733-01A-02D-1870-08	1843377	100784777	33067118	25	12963											
SKA3	221150	broad.mit.edu	37	chr13	21729856	21729856	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttctttgttgctgacatctCggatgttctgtccatgttta	5	20	8	8	1	3	1	0	1	3	0	5	2	4	2	1	1	1	4	1	1	1	6			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr13:21729856C>G	ENST00000314759.5	-	8	1338	c.1214G>C	c.(1213-1215)cGa>cCa	p.R405P	SKA3_ENST00000400018.3_Intron	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	405					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTGACATCTCGGATGTTCTG	0.353													8	120					0	0	0	0	G	21729856	C	G	21729856	3	3	66	1	0	0	0	0	1	0	0	0	14442	884	31	3	79	3	SKA3	13	21729856	Missense_Mutation	SNP	C	TCGA-CN-4733-01A-02D-1870-08		21729856	93440022	26	12964											
TMEM55B	90809	broad.mit.edu	37	chr14	20928987	20928987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caacacggctggatgcccctCgggaaacgggggaaatgctg	10	5	15	11	3	0	0	0	0	0	0	1	3	0	3	2	5	4	2	2	5	3	0			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr14:20928987C>G	ENST00000250489.4	-	2	446	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	TMEM55B_ENST00000398020.4_Missense_Mutation_p.E61Q			Q86T03	TM55B_HUMAN	transmembrane protein 55B	54	Pro-rich.					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		GGATGCCCCTCGGGAAACGGG	0.587													4	96					0	0	0	0	G	20928987	C	G	20928987	3	3	66	1	0	0	0	0	1	0	0	0	16276	893	31	3	697	3	TMEM55B	14	20928987	Missense_Mutation	SNP	C	TCGA-CN-4733-01A-02D-1870-08		20928987	86420553	27	12965											
MYH7	4625	broad.mit.edu	37	chr14	23884264	23884264	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcccttcaccgactctgcGttgcgcttctgctcggcctc	3	12	9	17	4	3	0	1	0	2	0	5	1	3	0	3	1	4	3	3	1	0	3	rs3729831		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr14:23884264G>A	ENST00000355349.3	-	37	5661	c.5499C>T	c.(5497-5499)aaC>aaT	p.N1833N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1833					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		CCGACTCTGCGTTGCGCTTCT	0.652													7	154					0	0	0	0	A	23884264	G	A	23884264	2	1	66	1	0	0	0	0	0	0	0	1	10109	1136	40	1		1	MYH7	14	23884264	Silent	SNP	G	TCGA-CN-4733-01A-02D-1870-08	2955277	23884264	83465276	28	12966											
ADCY4	196883	broad.mit.edu	37	chr14	24788554	24788554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgttgtgcatcctgtccaGaggtggcatttaagcctgtg	6	13	12	10	0	0	1	0	0	0	1	2	1	2	1	4	2	2	3	4	2	1	3			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr14:24788554G>A	ENST00000310677.4	-	23	2935	c.2822C>T	c.(2821-2823)tCt>tTt	p.S941F	ADCY4_ENST00000418030.2_Missense_Mutation_p.S941F|ADCY4_ENST00000554068.2_Missense_Mutation_p.S941F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	941					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATCCTGTCCAGAGGTGGCATT	0.527													8	78					0	0	0	0	A	24788554	G	A	24788554	3	1	66	1	0	0	0	0	1	0	0	0	296	942	33	2	427	2	ADCY4	14	24788554	Missense_Mutation	SNP	G	TCGA-CN-4733-01A-02D-1870-08	904290	24788554	82560986	29	12967											
SYNE2	23224	broad.mit.edu	37	chr14	64656947	64656947	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacatctttttgatgtcatCggatcaaggtaagaaatggg	13	12	10	6	1	3	2	2	1	1	1	4	3	3	3	0	3	1	1	0	3	4	3	rs145549349	by1000genomes	TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr14:64656947C>T	ENST00000357395.3	+	100	18329	c.7185C>T	c.(7183-7185)atC>atT	p.I2395I	SYNE2_ENST00000394768.2_Silent_p.I2395I|SYNE2_ENST00000358025.3_Silent_p.I6010I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.I6010I|SYNE2_ENST00000555002.1_Silent_p.I2644I|SYNE2_ENST00000554584.1_Silent_p.I5873I			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6010			A -> T (in dbSNP:rs4027405).		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGATGTCATCGGATCAAGGT	0.403													4	48					0	0	0	0	T	64656947	C	T	64656947	2	4	66	1	0	0	0	0	0	0	0	1	15537	874	31	1		1	SYNE2	14	64656947	Silent	SNP	C	TCGA-CN-4733-01A-02D-1870-08	39868393	64656947	42692593	30	12968											
FES	2242	broad.mit.edu	37	chr15	91433125	91433125	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagatggtgttcaggcggCaggagatggttacgcagctg	8	8	17	8	3	1	2	1	0	0	2	1	4	1	2	1	5	2	5	1	5	1	2			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr15:91433125C>T	ENST00000328850.3	+	8	1124	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	FES_ENST00000394300.3_Nonsense_Mutation_p.Q270*|FES_ENST00000448367.1_3'UTR|FES_ENST00000394302.1_Nonsense_Mutation_p.Q270*|FES_ENST00000414248.2_Nonsense_Mutation_p.Q270*|FES_ENST00000450438.2_Nonsense_Mutation_p.Q270*|FES_ENST00000444422.2_Nonsense_Mutation_p.Q328*	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	328					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTTCAGGCGGCAGGAGATGGT	0.637													6	142					0	0	0	0	T	91433125	C	T	91433125	4	4	66	1	0	0	0	0	0	1	0	0	5865	711	25	4	1008	4	FES	15	91433125	Nonsense_Mutation	SNP	C	TCGA-CN-4733-01A-02D-1870-08		91433125	11098267	31	12969											
KIAA0430	9665	broad.mit.edu	37	chr16	15718917	15718917	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgccacccccgagtttttCggcgtcgacactgcagcact	6	10	9	16	4	1	0	0	0	1	0	3	2	1	0	3	1	3	3	3	1	0	2			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr16:15718917C>T	ENST00000396368.3	-	9	2273	c.2067G>A	c.(2065-2067)ccG>ccA	p.P689P	KIAA0430_ENST00000602337.1_Silent_p.P686P|KIAA0430_ENST00000551742.1_Silent_p.P688P|KIAA0430_ENST00000548025.1_Silent_p.P686P|KIAA0430_ENST00000540441.2_Silent_p.P546P|KIAA0430_ENST00000344181.3_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	688						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCGAGTTTTTCGGCGTCGACA	0.483													12	116					0	0	0	0	T	15718917	C	T	15718917	2	4	66	1	0	0	0	0	0	0	0	1	8228	871	31	1		1	KIAA0430	16	15718917	Silent	SNP	C	TCGA-CN-4733-01A-02D-1870-08		15718917	74635836	32	12970											
PRSS54	221191	broad.mit.edu	37	chr16	58319891	58319892	+	Frame_Shift_Del	DEL	GT	GT	-																															gcagttctgcaagactggtgGtgtatgcagcattctgccga																										TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr16:58319891_58319892delGT	ENST00000219301.4	-	5	865_866	c.471_472delAC	c.(469-474)accafs	p.TP157fs	PRSS54_ENST00000543437.1_Frame_Shift_Del_p.TP58fs|PRSS54_ENST00000567164.1_Frame_Shift_Del_p.TP157fs	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	157	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAGACTGGTGGTGTATGCAGCA	0.545													7	93	---	---	---	---					-	58319892	GT	-	58319891	7	5	66	1	0	1	0	1	0	0	0	0	12712	1261	44	0	727	0	PRSS54	16	58319891	Frame_Shift_Del	DEL	GT	TCGA-CN-4733-01A-02D-1870-08	42600974	58319891	32034862	33	12971											
ZNF821	55565	broad.mit.edu	37	chr16	71898871	71898871	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaactctttctccacttTgaccacccctccatcttcct	6	16	1	18	0	4	1	0	1	4	0	7	1	6	1	6	0	1	0	6	0	1	5			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr16:71898871T>A	ENST00000425432.1	-	5	626	c.247A>T	c.(247-249)Aaa>Taa	p.K83*	ZNF821_ENST00000313565.6_Nonsense_Mutation_p.K41*|ZNF821_ENST00000565601.1_Nonsense_Mutation_p.K83*|RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_Intron|ZNF821_ENST00000564134.1_Nonsense_Mutation_p.K83*|ZNF821_ENST00000446827.2_Nonsense_Mutation_p.K41*|RP11-498D10.4_ENST00000568581.1_Intron	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TTCTCCACTTTGACCACCCCT	0.522													11	124					0	0	0	0	A	71898871	T	A	71898871	4	1	66	1	0	0	0	0	0	1	0	0	18271	1821	63	5	1007	5	ZNF821	16	71898871	Nonsense_Mutation	SNP	T	TCGA-CN-4733-01A-02D-1870-08	13578980	71898871	18455882	34	12972											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	22					0	0	0	0	T	7577120	C	T	7577120	3	4	66	1	0	0	0	0	1	0	0	0	16476	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-CN-4733-01A-02D-1870-08		7577120	73618090	35	12973											
COASY	80347	broad.mit.edu	37	chr17	40716511	40716511	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccagctgctgaaggacctCagacatacagagaatgaaga	16	6	10	9	0	1	5	1	2	0	3	2	7	2	6	2	1	3	2	2	1	4	1			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:40716511C>G	ENST00000393818.2	+	3	1419	c.963C>G	c.(961-963)ctC>ctG	p.L321L	COASY_ENST00000420359.1_Silent_p.L321L|COASY_ENST00000590958.1_Silent_p.L350L|COASY_ENST00000449624.1_Silent_p.L26L|COASY_ENST00000421097.2_Silent_p.L321L	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	321	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TGAAGGACCTCAGACATACAG	0.527													4	70					0	0	0	0	G	40716511	C	G	40716511	2	3	66	1	0	0	0	0	0	0	0	1	3682	813	29	2		2	COASY	17	40716511	Silent	SNP	C	TCGA-CN-4733-01A-02D-1870-08	33139391	40716511	40478699	36	12974											
TTLL6	284076	broad.mit.edu	37	chr17	46847448	46847448	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattctggggtggtttctacGgaggttaagtgctggaagaa	9	12	16	4	1	2	1	0	0	2	1	2	4	2	3	0	6	2	3	0	6	4	4			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:46847448G>A	ENST00000393382.3	-	14	2193	c.2052C>T	c.(2050-2052)tcC>tcT	p.S684S	TTLL6_ENST00000433608.2_Silent_p.S377S	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	636						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGTTTCTACGGAGGTTAAGT	0.458													8	91					0	0	0	0	A	46847448	G	A	46847448	2	1	66	1	0	0	0	0	0	0	0	1	16827	1103	39	1		1	TTLL6	17	46847448	Silent	SNP	G	TCGA-CN-4733-01A-02D-1870-08	6130937	46847448	34347762	37	12975											
CHAD	1101	broad.mit.edu	37	chr17	48545610	48545610	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacgtcgtccagggcccCgggctgcagggagctcaacg	6	5	14	16	4	1	0	1	0	0	0	4	1	3	1	4	3	3	3	4	3	1	0	rs147638039	byFrequency	TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:48545610C>G	ENST00000508540.1	-	1	717	c.565G>C	c.(565-567)Ggg>Cgg	p.G189R	ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.G189R|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000504392.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	189					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCCAGGGCCCCGGGCTGCAGG	0.637													3	113					0	0	0	0	G	48545610	C	G	48545610	3	3	66	1	0	0	0	0	1	0	0	0	3339	652	23	3	526	3	CHAD	17	48545610	Missense_Mutation	SNP	C	TCGA-CN-4733-01A-02D-1870-08	1698162	48545610	32649600	38	12976											
AXIN2	8313	broad.mit.edu	37	chr17	63554319	63554319	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggagacaatgctgttgttCtcaatgtaccttttgtagat	9	17	9	6	0	1	2	1	0	1	2	2	3	1	2	1	1	2	5	1	1	4	7			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:63554319C>T	ENST00000307078.5	-	2	733	c.420G>A	c.(418-420)gaG>gaA	p.E140E	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Silent_p.E140E	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	140	RGS.				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TGCTGTTGTTCTCAATGTACC	0.453									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				6	176					0	0	0	0	T	63554319	C	T	63554319	2	4	66	1	0	0	0	0	0	0	0	1	1241	912	32	2		2	AXIN2	17	63554319	Silent	SNP	C	TCGA-CN-4733-01A-02D-1870-08	15008709	63554319	17640891	39	12977											
ACTL9	284382	broad.mit.edu	37	chr19	8808007	8808007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaagcgaccctcgaagcCggtgaagagcgaggacccac	11	2	14	14	5	0	2	0	1	0	1	1	7	0	4	4	3	3	0	4	3	3	0			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr19:8808007C>T	ENST00000324436.3	-	1	1165	c.1045G>A	c.(1045-1047)Ggc>Agc	p.G349S		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	349						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTCGAAGCCGGTGAAGAGC	0.637													4	38					0	0	0	0	T	8808007	C	T	8808007	3	4	66	1	0	0	0	0	1	0	0	0	203	652	23	1	209	1	ACTL9	19	8808007	Missense_Mutation	SNP	C	TCGA-CN-4733-01A-02D-1870-08		8808007	50320976	40	12978											
DPF1	8193	broad.mit.edu	37	chr19	38704349	38704349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactgccagcggtaggtccGcacggctgccgtcatgttca	6	8	13	14	4	2	0	2	0	0	0	3	0	3	0	3	3	3	5	3	3	1	2			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr19:38704349G>A	ENST00000416611.1	-	10	1072	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	DPF1_ENST00000420980.2_Missense_Mutation_p.R299W|DPF1_ENST00000355526.4_Missense_Mutation_p.R343W|DPF1_ENST00000456296.1_Missense_Mutation_p.R317W|DPF1_ENST00000414789.1_Missense_Mutation_p.R261W|DPF1_ENST00000412732.1_Missense_Mutation_p.R261W			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	299					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGTAGGTCCGCACGGCTGCC	0.667													4	65					0	0	0	0	A	38704349	G	A	38704349	3	1	66	1	0	0	0	0	1	0	0	0	4752	1086	38	1	259	1	DPF1	19	38704349	Missense_Mutation	SNP	G	TCGA-CN-4733-01A-02D-1870-08	29896342	38704349	20424634	41	12979											
CSRP2BP	57325	broad.mit.edu	37	chr20	18123449	18123449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgaggatcaggcatcagtgGacttatcgcacgaccagagt	11	7	12	11	3	2	1	2	0	0	1	3	5	2	3	2	3	0	2	2	3	1	1			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr20:18123449G>A	ENST00000278816.2	+	2	795	c.145G>A	c.(145-147)Gac>Aac	p.D49N	CSRP2BP_ENST00000377681.2_Missense_Mutation_p.D49N|CSRP2BP_ENST00000604915.1_Missense_Mutation_p.D49N|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.D49N|PET117_ENST00000432901.2_3'UTR			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	49					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GGCATCAGTGGACTTATCGCA	0.537													4	83					0	0	0	0	A	18123449	G	A	18123449	3	1	66	1	0	0	0	0	1	0	0	0	4000	1174	41	2	147	2	CSRP2BP	20	18123449	Missense_Mutation	SNP	G	TCGA-CN-4733-01A-02D-1870-08		18123449	44902071	42	12980											
DGCR2	9993	broad.mit.edu	37	chr22	19028791	19028791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagccagggatcctgcggccGaggttgaagtggtgcactgg	8	7	17	9	2	0	1	0	1	0	0	1	3	1	2	3	5	3	2	3	5	2	1			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr22:19028791G>A	ENST00000263196.7	-	9	1423	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L	DGCR2_ENST00000537045.1_Silent_p.L351L|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	392					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					TCCTGCGGCCGAGGTTGAAGT	0.627													5	47					0	0	0	0	A	19028791	G	A	19028791	2	1	66	1	0	0	0	0	0	0	0	1	4498	1045	37	1		1	DGCR2	22	19028791	Silent	SNP	G	TCGA-CN-4733-01A-02D-1870-08		19028791	32275775	43	12981											
EIF3D	8664	broad.mit.edu	37	chr22	36916654	36916654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgatacttccaagtagcGcatcttcatcaactgaggaa	12	11	7	11	1	4	2	2	2	2	0	5	3	5	3	1	1	3	2	1	1	5	4			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr22:36916654G>A	ENST00000216190.8	-	7	917	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	EIF3D_ENST00000405442.1_Missense_Mutation_p.R183C|EIF3D_ENST00000541106.1_Missense_Mutation_p.R134C	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	183						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						TCCAAGTAGCGCATCTTCATC	0.428													3	46					0	0	0	0	A	36916654	G	A	36916654	3	1	66	1	0	0	0	0	1	0	0	0	5052	1087	38	1	1135	1	EIF3D	22	36916654	Missense_Mutation	SNP	G	TCGA-CN-4733-01A-02D-1870-08	17887863	36916654	14387912	44	12982											
CARD10	29775	broad.mit.edu	37	chr22	37891803	37891803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgccccggtccaggtccCgcagagtgagggggtcaacc	6	5	16	14	3	1	2	1	1	0	1	3	2	3	2	5	5	2	1	5	5	1	0			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr22:37891803C>T	ENST00000403299.1	-	15	2483	c.2267G>A	c.(2266-2268)cGg>cAg	p.R756Q	CARD10_ENST00000406271.3_Missense_Mutation_p.R470Q|CARD10_ENST00000251973.5_Missense_Mutation_p.R756Q			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	756					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GTCCAGGTCCCGCAGAGTGAG	0.642													6	32					0	0	0	0	T	37891803	C	T	37891803	3	4	66	1	0	0	0	0	1	0	0	0	2669	652	23	1	859	1	CARD10	22	37891803	Missense_Mutation	SNP	C	TCGA-CN-4733-01A-02D-1870-08	975149	37891803	13412763	45	12983											
BEND2	139105	broad.mit.edu	37	chrX	18195820	18195820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggctgcttgcttaggtttgGccatattttgtacggccagc	6	14	12	9	1	0	0	0	0	0	0	0	0	0	0	2	4	4	5	2	4	3	7			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chrX:18195820G>A	ENST00000380033.4	-	10	1631	c.1499C>T	c.(1498-1500)gCc>gTc	p.A500V	BEND2_ENST00000380030.3_Missense_Mutation_p.A409V	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	500	BEN 1.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTTAGGTTTGGCCATATTTTG	0.393													4	183					0	0	0	0	A	18195820	G	A	18195820	3	1	66	1	0	0	0	0	1	0	0	0	1402	1203	42	4	946	4	BEND2	23	18195820	Missense_Mutation	SNP	G	TCGA-CN-4733-01A-02D-1870-08		18195820	137074740	46	12984											
RBM10	8241	broad.mit.edu	37	chrX	47045133	47045133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaaccttgagattcacCggcgagcccacttgtcagaa	13	7	9	12	2	2	2	2	1	0	2	2	4	2	2	3	1	3	1	3	1	3	3			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chrX:47045133C>T	ENST00000377604.3	+	21	3116	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	RBM10_ENST00000345781.6_Missense_Mutation_p.R715W|RBM10_ENST00000329236.7_Missense_Mutation_p.R714W|RBM10_ENST00000468791.1_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	792					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGAGATTCACCGGCGAGCCCA	0.572													6	22					0	0	0	0	T	47045133	C	T	47045133	3	4	66	1	0	0	0	0	1	0	0	0	13193	643	23	1	2452	1	RBM10	23	47045133	Missense_Mutation	SNP	C	TCGA-CN-4733-01A-02D-1870-08	28849313	47045133	108225427	47	12985											
LRRC47	57470	broad.mit.edu	37	chr1	3703592	3703592	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccggccggcatctcccacgtCctgctcctccccatcaccac	5	7	6	23	3	2	0	1	0	1	0	6	0	5	0	8	2	1	2	8	2	0	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:3703592C>G	ENST00000378251.1	-	2	925	c.898G>C	c.(898-900)Gac>Cac	p.D300H		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	300					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		tctcccacgtcctgctcctcc	0.657													17	14					0	0	0	0	G	3703592	C	G	3703592	3	3	67	1	0	0	0	0	1	0	0	0	9068	855	30	2	877	2	LRRC47	1	3703592	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08		3703592	245547029	1	12986											
FBXO6	26270	broad.mit.edu	37	chr1	11728956	11728956	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaaaatcttctacttcCtacggagcctgcataggaac	12	10	8	11	1	2	0	0	0	2	0	3	3	3	3	2	3	5	1	2	3	6	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:11728956C>T	ENST00000376753.4	+	2	376	c.241C>T	c.(241-243)Cta>Tta	p.L81L		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	81	FBA.				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTACTTCCTACGGAGCCT	0.602													6	91					0	0	0	0	T	11728956	C	T	11728956	2	4	67	1	0	0	0	0	0	0	0	1	5804	680	24	4		4	FBXO6	1	11728956	Silent	SNP	C	TCGA-CN-4734-01A-01D-1434-08	8025364	11728956	237521665	2	12987											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12251958	12251958	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcgcaagtgccgcccGggcttcggcgtggccagacc	4	5	15	17	6	0	1	0	0	0	1	1	1	0	1	5	3	2	3	5	3	1	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:12251958G>A	ENST00000376259.3	+	4	524	c.435G>A	c.(433-435)ccG>ccA	p.P145P	TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Silent_p.P145P	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	145					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	AGTGCCGCCCGGGCTTCGGCG	0.687													30	19					0	0	0	0	A	12251958	G	A	12251958	2	1	67	1	0	0	0	0	0	0	0	1	16388	1103	39	1		1	TNFRSF1B	1	12251958	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	523002	12251958	236998663	3	12988											
EPHA2	1969	broad.mit.edu	37	chr1	16464404	16464404	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcggctggttaccaggcctGagacgccattgcgggcctcc	5	8	14	14	3	0	1	0	1	0	1	1	2	1	1	5	4	3	2	5	4	1	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:16464404G>C	ENST00000358432.5	-	5	1410	c.1256C>G	c.(1255-1257)tCa>tGa	p.S419*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	419	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TACCAGGCCTGAGACGCCATT	0.637													38	36					0	0	0	0	C	16464404	G	C	16464404	4	2	67	1	0	0	0	0	0	1	0	0	5205	1294	45	2	1726	2	EPHA2	1	16464404	Nonsense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	4212446	16464404	232786217	4	12989											
CLSPN	63967	broad.mit.edu	37	chr1	36228069	36228069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatggaccccactctccaaaGatggttcttttttctaaaag	12	13	6	10	0	3	1	0	0	3	1	4	2	3	2	3	2	0	1	3	2	4	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:36228069G>A	ENST00000251195.5	-	5	854	c.758C>T	c.(757-759)tCt>tTt	p.S253F	CLSPN_ENST00000373220.3_Missense_Mutation_p.S253F|CLSPN_ENST00000318121.3_Missense_Mutation_p.S253F|CLSPN_ENST00000520551.1_Missense_Mutation_p.S253F			Q9HAW4	CLSPN_HUMAN	claspin	253					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTCTCCAAAGATGGTTCTTT	0.398													58	59					0	0	0	0	A	36228069	G	A	36228069	3	1	67	1	0	0	0	0	1	0	0	0	3590	942	33	2	3345	2	CLSPN	1	36228069	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	19763665	36228069	213022552	5	12990											
FAM151A	338094	broad.mit.edu	37	chr1	55089015	55089015	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacagacacacaggtaatGccggcaaacacccacttgac	15	4	7	15	1	0	2	0	1	0	1	0	2	0	2	3	2	2	2	3	2	2	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:55089015G>T	ENST00000302250.2	-	1	214	c.54C>A	c.(52-54)ggC>ggA	p.G18G	ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA|FAM151A_ENST00000371304.2_Silent_p.G18G	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	18						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CACAGGTAATGCCGGCAAACA	0.597													114	98					4.64626e-59	5.2863e-59	1	0	T	55089015	G	T	55089015	2	4	67	1	0	0	0	0	0	0	0	1	5499	1306	46	4		4	FAM151A	1	55089015	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	18860946	55089015	194161606	6	12991											
ADAR	103	broad.mit.edu	37	chr1	154574600	154574600	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagggagtataaaactcgaTtgatttctttcttcggagtc	10	14	9	8	2	2	1	0	1	2	0	5	4	2	3	1	2	1	1	1	2	3	6			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:154574600T>C	ENST00000368474.4	-	2	717	c.518A>G	c.(517-519)aAt>aGt	p.N173S	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.N216S|ADAR_ENST00000471068.1_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	173					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TAAAACTCGATTGATTTCTTT	0.498													81	275					0	0	0	0	C	154574600	T	C	154574600	3	2	67	1	0	0	0	0	1	0	0	0	281	1493	52	5	3218	5	ADAR	1	154574600	Missense_Mutation	SNP	T	TCGA-CN-4734-01A-01D-1434-08	99485585	154574600	94676021	7	12992											
PMVK	10654	broad.mit.edu	37	chr1	154898894	154898894	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctacaacgcggaccgtctgCgtcacggccccataggcctc	7	6	11	17	5	2	0	1	0	1	0	3	1	2	1	4	3	3	1	4	3	3	2	rs137902262	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:154898894C>T	ENST00000368467.3	-	4	683	c.378G>A	c.(376-378)acG>acA	p.T126T		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	126					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGACCGTCTGCGTCACGGCCC	0.617													19	48					0	0	0	0	T	154898894	C	T	154898894	2	4	67	1	0	0	0	0	0	0	0	1	12216	755	27	1		1	PMVK	1	154898894	Silent	SNP	C	TCGA-CN-4734-01A-01D-1434-08	324294	154898894	94351727	8	12993											
EFNA3	1944	broad.mit.edu	37	chr1	155057801	155057801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccgcacagccccatcaaGttctcggagaagttccagcg	9	6	10	16	3	2	1	1	0	1	1	4	2	3	1	5	1	2	3	5	1	2	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:155057801G>A	ENST00000368408.3	+	2	433	c.363G>A	c.(361-363)aaG>aaA	p.K121K	EFNA3_ENST00000556931.1_Silent_p.K116K|EFNA3_ENST00000505139.1_Silent_p.K116K|EFNA3_ENST00000418360.2_Silent_p.K121K	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	121					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCCCATCAAGTTCTCGGAGA	0.647													5	21					0	0	0	0	A	155057801	G	A	155057801	2	1	67	1	0	0	0	0	0	0	0	1	4988	1020	36	4		4	EFNA3	1	155057801	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	158907	155057801	94192820	9	12994											
SPTA1	6708	broad.mit.edu	37	chr1	158650472	158650472	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttcttatgcagaacttcGgtgcgctcccagtcttcacc	8	13	7	13	2	3	1	1	0	2	1	5	1	4	1	2	1	3	2	2	1	3	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:158650472G>A	ENST00000368148.3	-	5	759	c.579C>T	c.(577-579)acC>acT	p.T193T	SPTA1_ENST00000368147.3_Silent_p.T193T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	193					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAGAACTTCGGTGCGCTCCC	0.463													36	125					0	0	0	0	A	158650472	G	A	158650472	2	1	67	1	0	0	0	0	0	0	0	1	15206	1103	39	1		1	SPTA1	1	158650472	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	3592671	158650472	90600149	10	12995											
FCRLB	127943	broad.mit.edu	37	chr1	161693366	161693366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtatcgatgccagacaCggggagcacccgtcagtgac	9	6	15	11	3	1	2	1	1	0	1	2	4	1	3	2	3	2	2	2	3	1	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:161693366C>T	ENST00000367948.2	+	5	477	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	FCRLB_ENST00000367945.1_Missense_Mutation_p.R81W|FCRLB_ENST00000367946.3_Missense_Mutation_p.R88W|FCRLB_ENST00000336830.5_Missense_Mutation_p.R88W|FCRLB_ENST00000392158.1_Missense_Mutation_p.R88W|FCRLB_ENST00000367944.3_Missense_Mutation_p.R81W			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	88	Ig-like C2-type 1.					endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ATGCCAGACACGGGGAGCACC	0.577													30	65					0	0	0	0	T	161693366	C	T	161693366	3	4	67	1	0	0	0	0	1	0	0	0	5846	527	19	1	272	1	FCRLB	1	161693366	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	3042894	161693366	87557255	11	12996											
DNM3	26052	broad.mit.edu	37	chr1	172348185	172348185	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgatgagaatggacaagcaGaaaacttttccatggaccca	16	8	9	8	0	0	3	0	2	0	2	1	6	1	5	2	2	2	1	2	2	4	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:172348185G>C	ENST00000358155.4	+	18	2097	c.1921G>C	c.(1921-1923)Gaa>Caa	p.E641Q	DNM3_ENST00000367731.1_Missense_Mutation_p.E637Q|DNM3_ENST00000355305.5_Missense_Mutation_p.E647Q	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	647					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGGACAAGCAGAAAACTTTTC	0.388													13	36					0	0	0	0	C	172348185	G	C	172348185	3	2	67	1	0	0	0	0	1	0	0	0	4709	943	33	2	1991	2	DNM3	1	172348185	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	10654819	172348185	76902436	12	12997											
ZBTB37	84614	broad.mit.edu	37	chr1	173842693	173842693	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatggatgagcctaagcaaCccagctcccaggtatggagt	12	7	12	10	0	0	1	0	1	0	0	1	4	1	3	3	3	4	3	3	3	4	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:173842693C>A	ENST00000427304.1	+	4	1288	c.1012C>A	c.(1012-1014)Ccc>Acc	p.P338T	ZBTB37_ENST00000432989.1_Missense_Mutation_p.P338T|ZBTB37_ENST00000367704.1_Intron|ZBTB37_ENST00000367702.1_Missense_Mutation_p.P338T|ZBTB37_ENST00000367701.4_Missense_Mutation_p.P338T	NM_001122770.1	NP_001116242.1	Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GCCTAAGCAACCCAGCTCCCA	0.458													14	66					6.72482e-11	7.14112e-11	1	0	A	173842693	C	A	173842693	3	1	67	1	0	0	0	0	1	0	0	0	17633	507	18	4	1018	4	ZBTB37	1	173842693	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	1494508	173842693	75407928	13	12998											
NR5A2	2494	broad.mit.edu	37	chr1	200014674	200014674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcgttgtccttactgtcGttttcaaaaatgtctaagtg	11	15	8	7	2	2	0	1	0	1	0	4	0	3	0	1	0	2	2	1	0	5	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:200014674G>A	ENST00000367362.3	+	4	671	c.425G>A	c.(424-426)cGt>cAt	p.R142H	NR5A2_ENST00000236914.3_Missense_Mutation_p.R96H|NR5A2_ENST00000544748.1_Missense_Mutation_p.R70H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	142					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCTTACTGTCGTTTTCAAAAA	0.343													22	73					0	0	0	0	A	200014674	G	A	200014674	3	1	67	1	0	0	0	0	1	0	0	0	10707	1145	40	1	439	1	NR5A2	1	200014674	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	26171981	200014674	49235947	14	12999											
CACNA1S	779	broad.mit.edu	37	chr1	201079386	201079386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggtgagcaagatgatcGtctcgaagggcctggagcca	11	7	15	8	2	1	4	0	2	1	2	3	6	1	5	2	3	2	1	2	3	2	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:201079386G>A	ENST00000362061.3	-	2	390	c.164C>T	c.(163-165)aCg>aTg	p.T55M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.T55M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	55					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAAGATGATCGTCTCGAAGGG	0.572													24	53					0	0	0	0	A	201079386	G	A	201079386	3	1	67	1	0	0	0	0	1	0	0	0	2572	1145	40	1	5629	1	CACNA1S	1	201079386	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	1064712	201079386	48171235	15	13000											
ZC3H11A	9877	broad.mit.edu	37	chr1	203821361	203821361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgagcatgaaaactcgccGactcagctctgcctcaacag	13	7	8	13	2	3	2	2	2	1	0	4	3	3	2	2	0	5	2	2	0	4	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:203821361G>A	ENST00000545588.1	+	17	6094	c.2267G>A	c.(2266-2268)cGa>cAa	p.R756Q	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.R756Q|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.R756Q|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.R756Q|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.R756Q	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	756							nucleic acid binding|protein binding|zinc ion binding	p.R756L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAAACTCGCCGACTCAGCTCT	0.507													36	83					0	0	0	0	A	203821361	G	A	203821361	3	1	67	1	0	0	0	0	1	0	0	0	17655	1058	37	1	2329	1	ZC3H11A	1	203821361	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	2741975	203821361	45429260	16	13001											
FAM84A	151354	broad.mit.edu	37	chr2	14774194	14774194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgaaaaggacgaactgcggGtcggggttgcctacttcttc	8	11	13	9	3	1	1	0	1	1	0	3	3	1	2	1	4	4	1	1	4	4	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:14774194G>A	ENST00000295092.2	+	2	379	c.91G>A	c.(91-93)Gtc>Atc	p.V31I	FAM84A_ENST00000331243.4_Missense_Mutation_p.V31I	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	31										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CGAACTGCGGGTCGGGGTTGC	0.617													3	56					0	0	0	0	A	14774194	G	A	14774194	3	1	67	1	0	0	0	0	1	0	0	0	5687	1261	44	4	93	4	FAM84A	2	14774194	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08		14774194	228425179	17	13002											
ITSN2	50618	broad.mit.edu	37	chr2	24521584	24521584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttagagtttaacctgaCaatttcttcttgttctctat	8	21	4	8	0	3	2	0	1	3	1	4	2	3	2	1	0	1	2	1	0	4	10			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:24521584C>A	ENST00000355123.4	-	13	1887	c.1444G>T	c.(1444-1446)Gtc>Ttc	p.V482F	ITSN2_ENST00000361999.3_Missense_Mutation_p.V482F|ITSN2_ENST00000406921.3_Missense_Mutation_p.V482F	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	482					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTAACCTGACAATTTCTTCT	0.398													36	135					4.11147e-13	4.47248e-13	1	0	A	24521584	C	A	24521584	3	1	67	1	0	0	0	0	1	0	0	0	7980	478	17	4	3812	4	ITSN2	2	24521584	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	9747390	24521584	218677789	18	13003											
DNMT3A	1788	broad.mit.edu	37	chr2	25467435	25467435	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttgttgtttccgcacatGagcacctcacggcccccaca	8	9	8	16	2	1	1	1	1	0	0	2	1	2	1	4	1	1	5	4	1	0	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:25467435G>A	ENST00000264709.3	-	14	1978	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	DNMT3A_ENST00000321117.5_Silent_p.L547L|DNMT3A_ENST00000402667.1_Silent_p.L324L|DNMT3A_ENST00000380746.4_Silent_p.L358L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	547	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCGCACATGAGCACCTCAC	0.632			"Mis, F, N, S"		AML								15	49					0	0	0	0	A	25467435	G	A	25467435	2	1	67	1	0	0	0	0	0	0	0	1	4712	1277	45	2		2	DNMT3A	2	25467435	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	945851	25467435	217731938	19	13004											
KRTCAP3	200634	broad.mit.edu	37	chr2	27665758	27665758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtccaggaaccttcttcGccctccactggtgagaggga	7	8	13	13	2	1	1	0	1	1	1	4	4	3	3	4	4	1	0	4	4	1	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:27665758G>T	ENST00000543753.1	+	3	310	c.263G>T	c.(262-264)cGc>cTc	p.R88L	KRTCAP3_ENST00000407293.1_Missense_Mutation_p.R70L|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.R88L	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	88						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					AACCTTCTTCGCCCTCCACTG	0.587													27	54					7.68411e-24	8.56779e-24	1	0	T	27665758	G	T	27665758	3	4	67	1	0	0	0	0	1	0	0	0	8632	1087	38	3	273	3	KRTCAP3	2	27665758	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	2198323	27665758	215533615	20	13005											
MTA3	57504	broad.mit.edu	37	chr2	42909708	42909708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatatggcaaagacttCaatgacatacggcaagattt	18	9	8	6	1	1	3	1	1	0	2	1	4	1	3	0	2	1	2	0	2	7	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:42909708C>A	ENST00000405592.1	+	10	1372	c.702C>A	c.(700-702)ttC>ttA	p.F234L	MTA3_ENST00000406652.1_Missense_Mutation_p.F234L|MTA3_ENST00000406911.1_Missense_Mutation_p.F290L|MTA3_ENST00000405094.1_Missense_Mutation_p.F290L|MTA3_ENST00000407270.3_Missense_Mutation_p.F290L			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	290	ELM2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						GCAAAGACTTCAATGACATAC	0.363													4	16					0.00024832	0.000256367	1	0	A	42909708	C	A	42909708	3	1	67	1	0	0	0	0	1	0	0	0	9980	825	29	2	904	2	MTA3	2	42909708	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	15243950	42909708	200289665	21	13006											
VRK2	7444	broad.mit.edu	37	chr2	58350334	58350334	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggccataatgggacaatAgagtttaccagcttggatgc	14	9	11	7	0	0	1	0	0	0	1	0	3	0	3	2	3	3	2	2	3	5	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:58350334A>G	ENST00000435505.2	+	11	1387	c.642A>G	c.(640-642)atA>atG	p.I214M	VRK2_ENST00000412104.2_Missense_Mutation_p.I214M|VRK2_ENST00000440705.2_Missense_Mutation_p.I191M|VRK2_ENST00000340157.4_Missense_Mutation_p.I214M|VRK2_ENST00000417641.2_Missense_Mutation_p.I214M			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	214	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						ATGGGACAATAGAGTTTACCA	0.383													3	203					0	0	0	0	G	58350334	A	G	58350334	3	3	67	1	0	0	0	0	1	0	0	0	17316	410	15	5	668	5	VRK2	2	58350334	Missense_Mutation	SNP	A	TCGA-CN-4734-01A-01D-1434-08	15440626	58350334	184849039	22	13007											
MOGS	7841	broad.mit.edu	37	chr2	74688809	74688809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggcgggatgaggtggggtCcagcagtcgcagcagcaagg	10	4	19	8	2	0	1	0	1	0	0	2	2	1	2	1	6	3	4	1	6	2	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:74688809C>T	ENST00000233616.4	-	4	2269	c.2107G>A	c.(2107-2109)Gac>Aac	p.D703N	MOGS_ENST00000452063.2_Missense_Mutation_p.D597N|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	703					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GAGGTGGGGTCCAGCAGTCGC	0.607													28	72					0	0	0	0	T	74688809	C	T	74688809	3	4	67	1	0	0	0	0	1	0	0	0	9767	855	30	2	410	2	MOGS	2	74688809	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	16338475	74688809	168510564	23	13008											
SEMA4C	54910	broad.mit.edu	37	chr2	97526459	97526459	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctcaggcagggggtgcccGagccctccccggtcctcccc	4	5	13	19	2	1	0	1	0	0	0	4	1	4	0	7	4	3	2	7	4	0	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:97526459G>A	ENST00000305476.5	-	15	2538	c.2406C>T	c.(2404-2406)ctC>ctT	p.L802L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	802					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGGGGTGCCCGAGCCCTCCCC	0.627													51	142					0	0	0	0	A	97526459	G	A	97526459	2	1	67	1	0	0	0	0	0	0	0	1	14120	1045	37	1		1	SEMA4C	2	97526459	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	22837650	97526459	145672914	24	13009											
RBM43	375287	broad.mit.edu	37	chr2	152107860	152107860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctccacttctagcagtctCaggtactaaggtcctgactg	8	13	8	12	0	3	1	1	1	3	0	6	1	4	1	2	2	2	2	2	2	3	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:152107860C>T	ENST00000331426.5	-	4	785	c.634G>A	c.(634-636)Gag>Aag	p.E212K		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	212							nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		CTAGCAGTCTCAGGTACTAAG	0.393													48	127					0	0	0	0	T	152107860	C	T	152107860	3	4	67	1	0	0	0	0	1	0	0	0	13219	835	29	2	443	2	RBM43	2	152107860	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	54581401	152107860	91091513	25	13010											
TTN	7273	broad.mit.edu	37	chr2	179427722	179427722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtcagtgagaatgccttCtgccttttcccatttaactt	7	16	6	12	0	2	1	1	1	1	1	3	2	3	1	4	0	3	0	4	0	2	6			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:179427722C>T	ENST00000589042.1	-	326	83361	c.83137G>A	c.(83137-83139)Gaa>Aaa	p.E27713K	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18773K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26072K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18840K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25145K|TTN_ENST00000460472.2_Missense_Mutation_p.E18648K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26072	Fibronectin type-III 102.						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)			AGAATGCCTTCTGCCTTTTCC	0.438													30	131					0	0	0	0	T	179427722	C	T	179427722	3	4	67	1	0	0	0	0	1	0	0	0	16831	922	32	2	24990	2	TTN	2	179427722	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	27319862	179427722	63771651	26	13011											
PDE1A	5136	broad.mit.edu	37	chr2	183129053	183129053	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcatcgatataaactgcttCcagcacagatgccgcatatt	12	12	6	11	2	1	1	1	0	0	1	3	2	2	1	2	0	4	3	2	0	4	6	rs149743969		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:183129053C>G	ENST00000435564.1	-	2	390	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	PDE1A_ENST00000331935.6_Missense_Mutation_p.E64Q|PDE1A_ENST00000409365.1_Missense_Mutation_p.E48Q|PDE1A_ENST00000456212.1_Missense_Mutation_p.E64Q|PDE1A_ENST00000358139.2_Missense_Mutation_p.E64Q|PDE1A_ENST00000351439.5_Missense_Mutation_p.E48Q|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000410103.1_Missense_Mutation_p.E64Q	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	64					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TAAACTGCTTCCAGCACAGAT	0.378													23	100					0	0	0	0	G	183129053	C	G	183129053	3	3	67	1	0	0	0	0	1	0	0	0	11704	864	30	2	1547	2	PDE1A	2	183129053	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	3701331	183129053	60070320	27	13012											
CASP8	841	broad.mit.edu	37	chr2	202151270	202151270	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatggggaaacagatgcctCagcctactttcacactaaga	14	8	8	11	0	2	2	2	0	0	2	2	3	2	3	2	2	4	0	2	2	3	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:202151270C>T	ENST00000358485.4	+	9	1766	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q465*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	465					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.Q482*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACAGATGCCTCAGCCTACTTT	0.373										HNSCC(4;0.00038)			36	40					0	0	0	0	T	202151270	C	T	202151270	4	4	67	1	0	0	0	0	0	1	0	0	2702	827	29	2	1704	2	CASP8	2	202151270	Nonsense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	19022217	202151270	41048103	28	13013											
ERBB4	2066	broad.mit.edu	37	chr2	212488710	212488710	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttcagctcagtttctttCaaaatacgaagttgagcttg	10	15	7	9	1	5	1	3	1	2	0	5	2	5	1	0	0	3	4	0	0	4	6			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:212488710C>G	ENST00000342788.4	-	18	2449	c.2139G>C	c.(2137-2139)ttG>ttC	p.L713F	ERBB4_ENST00000402597.1_Missense_Mutation_p.L703F|ERBB4_ENST00000436443.1_Missense_Mutation_p.L713F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	713					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGTTTCTTTCAAAATACGAA	0.403										TSP Lung(8;0.080)			24	71					0	0	0	0	G	212488710	C	G	212488710	3	3	67	1	0	0	0	0	1	0	0	0	5247	825	29	2	1831	2	ERBB4	2	212488710	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	10337440	212488710	30710663	29	13014											
ABCB6	10058	broad.mit.edu	37	chr2	220081144	220081144	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagacgtaactggtaacagtCcaggccagagagttccaagg	14	6	12	9	1	0	2	0	0	0	2	2	3	2	2	3	3	2	3	3	3	4	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:220081144C>T	ENST00000265316.3	-	4	1228	c.912G>A	c.(910-912)tgG>tgA	p.W304*	ABCB6_ENST00000439002.2_Nonsense_Mutation_p.W258*	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	304	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTAACAGTCCAGGCCAGAG	0.552													18	95					0	0	0	0	T	220081144	C	T	220081144	4	4	67	1	0	0	0	0	0	1	0	0	45	856	30	2	1680	2	ABCB6	2	220081144	Nonsense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	7592434	220081144	23118229	30	13015											
SPEG	10290	broad.mit.edu	37	chr2	220300061	220300061	+	Frame_Shift_Del	DEL	C	C	-																															gggccgggcctcctgcgaggCggtgctcacagtgctggagg																										TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:220300061delC	ENST00000312358.7	+	1	494	c.362delC	c.(361-363)ggfs	p.A121fs		NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	121	Ig-like 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCTGCGAGGCGGTGCTCACA	0.741													2	4	---	---	---	---					-	220300061	C	-	220300061	7	5	67	1	0	1	0	1	0	0	0	0	15126	768	27	0	364	0	SPEG	2	220300061	Frame_Shift_Del	DEL	C	TCGA-CN-4734-01A-01D-1434-08	218917	220300061	22899312	31	13016											
TADA3	10474	broad.mit.edu	37	chr3	9828794	9828794	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcagcagggcatccacatCtaagcgggcacaggaaagga	13	5	12	11	1	2	0	1	0	1	0	3	2	3	2	1	4	2	3	1	4	2	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:9828794C>T	ENST00000343450.2	-	6	1254		c.e6-1		TADA3_ENST00000301964.2_Splice_Site|TADA3_ENST00000440161.1_Splice_Site	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3						estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GCATCCACATCTAAGCGGGCA	0.597											OREG0015382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	212					0	0	0	0	T	9828794	C	T	9828794	5	4	67	1	0	0	0	0	0	0	1	0	15603	927	32	2	612	2	TADA3	3	9828794	Splice_Site	SNP	C	TCGA-CN-4734-01A-01D-1434-08		9828794	188193636	32	13017											
SATB1	6304	broad.mit.edu	37	chr3	18393545	18393545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgccatggtgatgcaccGcgttgctctcctgttcataa	6	13	10	12	3	2	1	1	1	1	0	4	1	2	1	3	1	2	4	3	1	1	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:18393545G>A	ENST00000338745.6	-	10	3452	c.1718C>T	c.(1717-1719)gCg>gTg	p.A573V	SATB1_ENST00000454909.2_Missense_Mutation_p.A573V|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.A573V	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	573					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTGATGCACCGCGTTGCTCTC	0.498													37	112					0	0	0	0	A	18393545	G	A	18393545	3	1	67	1	0	0	0	0	1	0	0	0	13939	1087	38	1	581	1	SATB1	3	18393545	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	8564751	18393545	179628885	33	13018											
PFKFB4	5210	broad.mit.edu	37	chr3	48575989	48575993	+	Frame_Shift_Del	DEL	TGAAG	TGAAG	-																															atagcactcaatgcgcctcaTgaagtcctccgtagcctcat																										TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:48575989_48575993delTGAAG	ENST00000232375.3	-	7	682_686	c.570_574delCTTCA	c.(568-576)gatgfs	p.DFM190fs	PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Frame_Shift_Del_p.DFM156fs|PFKFB4_ENST00000536104.1_Frame_Shift_Del_p.DFM179fs|PFKFB4_ENST00000416568.1_Frame_Shift_Del_p.DFM190fs|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Frame_Shift_Del_p.DFM190fs	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	190	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ATGCGCCTCATGAAGTCCTCCGTAG	0.576													23	85	---	---	---	---					-	48575993	TGAAG	-	48575989	7	5	67	1	0	1	0	1	0	0	0	0	11835	1464	51	0	867	0	PFKFB4	3	48575989	Frame_Shift_Del	DEL	TGAAG	TCGA-CN-4734-01A-01D-1434-08	30182444	48575989	149446441	34	13019											
CACNA1D	776	broad.mit.edu	37	chr3	53844075	53844075	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcactcgacccggtcgtGggccacccctccagcaaccc	7	5	10	19	3	1	0	1	0	0	0	4	2	2	0	6	2	2	1	6	2	1	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:53844075G>A	ENST00000288139.3	+	48	6120	c.6002G>A	c.(6001-6003)tGg>tAg	p.W2001*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.W1957*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.W1981*|CACNA1D_ENST00000544977.1_3'UTR	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1981					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACCCGGTCGTGGGCCACCCCT	0.612													24	77					0	0	0	0	A	53844075	G	A	53844075	4	1	67	1	0	0	0	0	0	1	0	0	2566	1357	47	4	6300	4	CACNA1D	3	53844075	Nonsense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	5268086	53844075	144178355	35	13020											
PDZRN3	23024	broad.mit.edu	37	chr3	73433477	73433477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttgtcggatttctccGggagctcggtgatatctgag	5	14	13	9	3	2	2	0	2	2	0	6	4	3	4	2	3	1	1	2	3	1	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:73433477G>A	ENST00000263666.4	-	10	2354	c.2240C>T	c.(2239-2241)cCg>cTg	p.P747L	PDZRN3_ENST00000466780.1_Missense_Mutation_p.P404L|PDZRN3_ENST00000479530.1_Missense_Mutation_p.P464L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P404L|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P469L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	747							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGATTTCTCCGGGAGCTCGGT	0.612													11	46					0	0	0	0	A	73433477	G	A	73433477	3	1	67	1	0	0	0	0	1	0	0	0	11780	1116	39	1	964	1	PDZRN3	3	73433477	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	19589402	73433477	124588953	36	13021											
PHLDB2	90102	broad.mit.edu	37	chr3	111688638	111688638	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgacacctgttaccatgtAtcaatcacagagaagacctg	14	10	7	10	0	2	3	2	1	0	2	2	4	2	3	3	0	1	2	3	0	4	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:111688638A>G	ENST00000431670.2	+	16	3828	c.3417A>G	c.(3415-3417)gtA>gtG	p.V1139V	PHLDB2_ENST00000495180.1_Silent_p.V630V|PHLDB2_ENST00000412622.1_Silent_p.V1096V|PHLDB2_ENST00000393923.3_Silent_p.V1123V|PHLDB2_ENST00000393925.3_Silent_p.V1139V|PHLDB2_ENST00000481953.1_Silent_p.V1096V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1139						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GTTACCATGTATCAATCACAG	0.458													27	87					0	0	0	0	G	111688638	A	G	111688638	2	3	67	1	0	0	0	0	0	0	0	1	11924	436	16	5		5	PHLDB2	3	111688638	Silent	SNP	A	TCGA-CN-4734-01A-01D-1434-08	38255161	111688638	86333792	37	13022											
TPRA1	131601	broad.mit.edu	37	chr3	127298632	127298632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtgatgcggatcttcGcccgagcagatggaagcttc	8	9	15	9	3	1	2	0	1	1	1	3	6	1	5	1	4	3	2	1	4	1	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:127298632G>A	ENST00000355552.3	-	3	585	c.209C>T	c.(208-210)gCg>gTg	p.A70V	TPRA1_ENST00000450633.2_Missense_Mutation_p.A70V|TPRA1_ENST00000296210.7_Missense_Mutation_p.A70V|TPRA1_ENST00000489960.1_Missense_Mutation_p.A70V	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	70					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GCGGATCTTCGCCCGAGCAGA	0.532													10	34					0	0	0	0	A	127298632	G	A	127298632	3	1	67	1	0	0	0	0	1	0	0	0	16512	1087	38	1	948	1	TPRA1	3	127298632	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	15609994	127298632	70723798	38	13023											
ZBBX	79740	broad.mit.edu	37	chr3	167068267	167068267	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgaactttagcaaagcAtcctgaacaataatcttctc	13	12	6	10	0	2	2	0	2	2	0	4	2	3	2	1	1	4	2	1	1	6	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:167068267A>T	ENST00000392766.2	-	9	809	c.469T>A	c.(469-471)Tgc>Agc	p.C157S	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.C128S|ZBBX_ENST00000307529.5_Missense_Mutation_p.C157S|ZBBX_ENST00000455345.2_Missense_Mutation_p.C157S|ZBBX_ENST00000392767.2_Missense_Mutation_p.C157S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	157						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTAGCAAAGCATCCTGAACAA	0.303													6	370					0	0	0	0	T	167068267	A	T	167068267	3	4	67	1	0	0	0	0	1	0	0	0	17612	217	8	5	1985	5	ZBBX	3	167068267	Missense_Mutation	SNP	A	TCGA-CN-4734-01A-01D-1434-08	39769635	167068267	30954163	39	13024											
NOP14	8602	broad.mit.edu	37	chr4	2948177	2948177	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccgcccggcctttggtctCaatcatttcttccatctcat	5	15	6	15	2	4	0	3	0	3	0	7	0	5	0	4	2	1	0	4	2	1	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:2948177C>G	ENST00000416614.2	-	11	1662	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.E533Q|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.E533Q|NOP14_ENST00000314262.6_Missense_Mutation_p.E533Q|NOP14-AS1_ENST00000503709.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	533					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CCTTTGGTCTCAATCATTTCT	0.488													29	81					0	0	0	0	G	2948177	C	G	2948177	3	3	67	1	0	0	0	0	1	0	0	0	10606	835	29	2	1008	2	NOP14	4	2948177	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08		2948177	188206099	40	13025											
ARAP2	116984	broad.mit.edu	37	chr4	36148978	36148979	+	Frame_Shift_Ins	INS	-	-	T																															attttgaaccattgtgctgaINSttgctgaagggagaatgaaa																								rs148742461	by1000genomes	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:36148978_36148979insT	ENST00000303965.4	-	19	3691_3692	c.3202_3203insA	c.(3202-3204)cagfs	p.Q1068fs		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1068	PH 4.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CATTGTGCTGATTGCTGAAGGG	0.332													46	194	---	---	---	---					T	36148979	-	T	36148978	7	5	67	1	0	1	1	0	0	0	0	0	841	333	12	0	1971	0	ARAP2	4	36148978	Frame_Shift_Ins	INS	-	TCGA-CN-4734-01A-01D-1434-08	33200801	36148978	155005298	41	13026											
EPHA5	2044	broad.mit.edu	37	chr4	66230776	66230776	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggatgatgttaggatgaTcaaactgtcccatgatactt	13	13	9	6	0	1	3	1	3	0	0	2	5	2	5	1	2	2	1	1	2	4	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:66230776T>G	ENST00000273854.3	-	12	2795	c.2195A>C	c.(2194-2196)gAt>gCt	p.D732A	EPHA5_ENST00000354839.4_Missense_Mutation_p.D710A|EPHA5_ENST00000511294.1_Missense_Mutation_p.D733A|EPHA5_ENST00000432638.2_Missense_Mutation_p.D569A	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	732	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTTAGGATGATCAAACTGTCC	0.373										TSP Lung(17;0.13)			46	177					0	0	0	0	G	66230776	T	G	66230776	3	3	67	1	0	0	0	0	1	0	0	0	5208	1435	50	5	946	5	EPHA5	4	66230776	Missense_Mutation	SNP	T	TCGA-CN-4734-01A-01D-1434-08	30081798	66230776	124923500	42	13027											
HERC3	8916	broad.mit.edu	37	chr4	89583679	89583679	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttggagacaaaaactctCagaacacaacaatgcaaata	20	7	6	8	0	1	2	1	0	1	2	2	3	1	2	0	1	4	2	0	1	7	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:89583679C>G	ENST00000402738.1	+	11	1483	c.1244C>G	c.(1243-1245)tCa>tGa	p.S415*	HERC3_ENST00000264345.3_Nonsense_Mutation_p.S415*|HERC3_ENST00000543130.1_Intron	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	415					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CAAAAACTCTCAGAACACAAC	0.348													21	55					0	0	0	0	G	89583679	C	G	89583679	4	3	67	1	0	0	0	0	0	1	0	0	7109	838	29	2	1278	2	HERC3	4	89583679	Nonsense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	23352903	89583679	101570597	43	13028											
NDST3	9348	broad.mit.edu	37	chr4	119059259	119059259	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggcccctcaccattcGggcgtctaccctgtacatgt	5	11	10	15	2	2	0	1	0	1	0	3	0	2	0	4	2	2	2	4	2	2	3	rs142162150		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:119059259G>T	ENST00000296499.5	+	5	1678	c.1275G>T	c.(1273-1275)tcG>tcT	p.S425S	NDST3_ENST00000433996.2_Silent_p.S344S	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	425	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.S425S(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTCACCATTCGGGCGTCTACC	0.473													32	119					6.03168e-27	6.75912e-27	1	0	T	119059259	G	T	119059259	2	4	67	1	0	0	0	0	0	0	0	1	10327	1103	39	3		3	NDST3	4	119059259	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	29475580	119059259	72095017	44	13029											
SPRY1	10252	broad.mit.edu	37	chr4	124323279	124323279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggacctgacacagcacaAgttcatttgtgaacagtgtg	13	9	11	8	0	1	3	1	2	0	1	1	4	1	4	1	1	2	2	1	1	2	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:124323279A>G	ENST00000394339.2	+	2	873	c.533A>G	c.(532-534)aAg>aGg	p.K178R	SPRY1_ENST00000339241.1_Missense_Mutation_p.K178R	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	178					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						ACACAGCACAAGTTCATTTGT	0.527													35	84					0	0	0	0	G	124323279	A	G	124323279	3	3	67	1	0	0	0	0	1	0	0	0	15195	72	3	5	535	5	SPRY1	4	124323279	Missense_Mutation	SNP	A	TCGA-CN-4734-01A-01D-1434-08	5264020	124323279	66830997	45	13030											
DDX60L	91351	broad.mit.edu	37	chr4	169341482	169341482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttctgccggcaggcaacGttttagtaaaacgattctca	11	11	10	9	3	2	0	1	0	2	0	3	2	2	0	1	2	3	5	1	2	4	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:169341482G>A	ENST00000511577.1	-	18	2691	c.2444C>T	c.(2443-2445)aCg>aTg	p.T815M	DDX60L_ENST00000505890.1_Missense_Mutation_p.T815M|DDX60L_ENST00000260184.7_Missense_Mutation_p.T815M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	815	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GGCAGGCAACGTTTTAGTAAA	0.363													5	31					0	0	0	0	A	169341482	G	A	169341482	3	1	67	1	0	0	0	0	1	0	0	0	4411	1145	40	1	2760	1	DDX60L	4	169341482	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	45018203	169341482	21812794	46	13031											
IRF2	3660	broad.mit.edu	37	chr4	185311904	185311904	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actatcagtcgtttcgctttCtgttcacagagagaaaaaca	13	12	7	9	2	3	2	2	0	1	2	5	3	3	2	0	0	1	3	0	0	3	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:185311904C>G	ENST00000393593.3	-	8	902		c.e8-1			NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2						blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTTTCGCTTTCTGTTCACAGA	0.532													27	72					0	0	0	0	G	185311904	C	G	185311904	5	3	67	1	0	0	0	0	0	0	1	0	7881	927	32	2	363	2	IRF2	4	185311904	Splice_Site	SNP	C	TCGA-CN-4734-01A-01D-1434-08	15970422	185311904	5842372	47	13032											
NIPBL	25836	broad.mit.edu	37	chr5	36986387	36986387	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctatcaagaataaaccAtcaaagtcaaataaaggtaa	23	7	4	7	0	3	1	3	0	0	1	3	1	3	1	2	1	2	1	2	1	11	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:36986387A>G	ENST00000282516.8	+	10	3604	c.3105A>G	c.(3103-3105)ccA>ccG	p.P1035P	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.P1035P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1035					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGAATAAACCATCAAAGTCAA	0.274													36	102					0	0	0	0	G	36986387	A	G	36986387	2	3	67	1	0	0	0	0	0	0	0	1	10498	204	8	5		5	NIPBL	5	36986387	Silent	SNP	A	TCGA-CN-4734-01A-01D-1434-08		36986387	143928873	48	13033											
DAB2	1601	broad.mit.edu	37	chr5	39382739	39382739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttagcagtccttctgcctCttcctggtttggtactttgt	3	18	8	12	0	2	0	0	0	2	0	4	0	4	0	4	2	3	3	4	2	2	6			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:39382739C>G	ENST00000545653.1	-	9	1789	c.1259G>C	c.(1258-1260)aGa>aCa	p.R420T	DAB2_ENST00000509337.1_Missense_Mutation_p.R420T|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000320816.6_Missense_Mutation_p.R441T	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	441					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCTTCTGCCTCTTCCTGGTTT	0.483													45	149					0	0	0	0	G	39382739	C	G	39382739	3	3	67	1	0	0	0	0	1	0	0	0	4251	913	32	2	1010	2	DAB2	5	39382739	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	2396352	39382739	141532521	49	13034											
F2RL1	2150	broad.mit.edu	37	chr5	76128686	76128686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaattgtctacacaattgTgtttgtggtgggtttgccaa	8	16	10	7	0	1	0	0	0	1	0	2	0	2	0	2	2	2	2	2	2	4	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:76128686T>C	ENST00000296677.4	+	2	460	c.254T>C	c.(253-255)gTg>gCg	p.V85A		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	85					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TACACAATTGTGTTTGTGGTG	0.463													59	189					0	0	0	0	C	76128686	T	C	76128686	3	2	67	1	0	0	0	0	1	0	0	0	5382	1696	59	5	260	5	F2RL1	5	76128686	Missense_Mutation	SNP	T	TCGA-CN-4734-01A-01D-1434-08	36745947	76128686	104786574	50	13035											
ZFYVE16	9765	broad.mit.edu	37	chr5	79743947	79743947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taattcagagtcctatttctCaggttccatcagtggaaaaa	13	13	7	8	0	3	1	3	0	1	1	6	2	5	2	2	2	0	1	2	2	4	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:79743947C>G	ENST00000338008.5	+	7	3007	c.2827C>G	c.(2827-2829)Cag>Gag	p.Q943E	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.Q943E|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.Q943E	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	943					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TCCTATTTCTCAGGTTCCATC	0.373													27	95					0	0	0	0	G	79743947	C	G	79743947	3	3	67	1	0	0	0	0	1	0	0	0	17759	827	29	2	2849	2	ZFYVE16	5	79743947	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	3615261	79743947	101171313	51	13036											
RASGRF2	5924	broad.mit.edu	37	chr5	80422959	80422959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgcaatagccacagctgCagcaggacatgggagtccac	11	8	11	11	0	0	0	0	0	0	0	1	2	1	2	2	2	5	4	2	2	2	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:80422959C>A	ENST00000265080.4	+	17	2730	c.2663C>A	c.(2662-2664)gCa>gAa	p.A888E		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	888					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCCACAGCTGCAGCAGGACAT	0.498													10	53					1.61879e-10	1.71086e-10	1	0	A	80422959	C	A	80422959	3	1	67	1	0	0	0	0	1	0	0	0	13155	710	25	4	2729	4	RASGRF2	5	80422959	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	679012	80422959	100492301	52	13037											
ERAP1	51752	broad.mit.edu	37	chr5	96136692	96136692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgggttcaaattgtgttGatgctagtatcctaaaatta	12	15	9	5	0	1	1	1	1	0	0	2	1	2	1	1	1	1	4	1	1	6	7			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:96136692G>A	ENST00000296754.3	-	3	793	c.536C>T	c.(535-537)tCa>tTa	p.S179L	ERAP1_ENST00000443439.2_Missense_Mutation_p.S179L	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	179					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AAATTGTGTTGATGCTAGTAT	0.378													23	95					0	0	0	0	A	96136692	G	A	96136692	3	1	67	1	0	0	0	0	1	0	0	0	5241	1294	45	2	2390	2	ERAP1	5	96136692	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	15713733	96136692	84778568	53	13038											
BRD8	10902	broad.mit.edu	37	chr5	137486496	137486496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagggagctgaagccacctCtggctttccattttctccca	7	12	9	13	0	2	2	0	2	2	0	4	3	3	3	4	2	2	2	4	2	1	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:137486496C>G	ENST00000254900.5	-	22	3429	c.3058G>C	c.(3058-3060)Gag>Cag	p.E1020Q		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1020					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAAGCCACCTCTGGCTTTCCA	0.463													49	154					0	0	0	0	G	137486496	C	G	137486496	3	3	67	1	0	0	0	0	1	0	0	0	1514	922	32	2	673	2	BRD8	5	137486496	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	41349804	137486496	43428764	54	13039											
EGR1	1958	broad.mit.edu	37	chr5	137802445	137802445	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcttctctctctcctgccaGagtcttttcctgacatctct	4	16	5	16	1	4	2	0	1	4	1	9	2	6	2	3	0	1	1	3	0	0	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:137802445G>C	ENST00000239938.4	+	2	579		c.e2-1			NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1						cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTCCTGCCAGAGTCTTTTCC	0.592													68	280					0	0	0	0	C	137802445	G	C	137802445	5	2	67	1	0	0	0	0	0	0	1	0	5007	956	33	2	313	2	EGR1	5	137802445	Splice_Site	SNP	G	TCGA-CN-4734-01A-01D-1434-08	315949	137802445	43112815	55	13040											
DNAJC18	202052	broad.mit.edu	37	chr5	138773229	138773229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctgggtatttgtttcttCtaactgcgtcaatgtaagct	7	18	8	8	1	4	0	1	0	3	0	4	0	4	0	0	1	3	4	0	1	4	7			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:138773229C>T	ENST00000302060.5	-	2	139	c.59G>A	c.(58-60)aGa>aAa	p.R20K		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	20					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTGTTTCTTCTAACTGCGTC	0.478													25	96					0	0	0	0	T	138773229	C	T	138773229	3	4	67	1	0	0	0	0	1	0	0	0	4673	913	32	2	1045	2	DNAJC18	5	138773229	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	970784	138773229	42142031	56	13041											
NRG2	9542	broad.mit.edu	37	chr5	139422206	139422206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccgaggcgggcggctctCgggtgctgttggagctggag	4	7	20	10	4	1	0	0	0	1	0	2	4	1	2	1	6	2	4	1	6	0	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:139422206C>A	ENST00000541337.1	-	1	678	c.449G>T	c.(448-450)cGa>cTa	p.R150L	NRG2_ENST00000394770.1_Missense_Mutation_p.R150L|NRG2_ENST00000361474.1_Missense_Mutation_p.R150L|NRG2_ENST00000358522.3_Missense_Mutation_p.R150L|NRG2_ENST00000545385.1_Missense_Mutation_p.R150L|NRG2_ENST00000289422.7_Missense_Mutation_p.R150L|NRG2_ENST00000289409.4_Missense_Mutation_p.R150L	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	150					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGGCTCTCGGGTGCTGTT	0.697													3	17					2.56e-06	2.65526e-06	1	0	A	139422206	C	A	139422206	3	1	67	1	0	0	0	0	1	0	0	0	10719	884	31	3	2234	3	NRG2	5	139422206	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	648977	139422206	41493054	57	13042											
PCDHB12	56124	broad.mit.edu	37	chr5	140590604	140590604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcggtgctcctgttcGtggcggtgcggctgtgcagg	1	13	16	11	4	2	0	0	0	2	0	5	0	3	0	1	5	3	4	1	5	0	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:140590604G>A	ENST00000239450.2	+	1	2314	c.2125G>A	c.(2125-2127)Gtg>Atg	p.V709M	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V372M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		709					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGTTCGTGGCGGTGCG	0.697													44	199					0	0	0	0	A	140590604	G	A	140590604	3	1	67	1	0	0	0	0	1	0	0	0	11608	1145	40	1	2127	1	PCDHB12	5	140590604	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	1168398	140590604	40324656	58	13043											
FBXO38	81545	broad.mit.edu	37	chr5	147796565	147796565	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgccttagggttgtgcTcgagttggtctgagtgcagg	4	15	16	6	1	1	1	0	1	1	0	2	2	1	1	1	3	3	5	1	3	1	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:147796565T>G	ENST00000340253.5	+	12	1584	c.1416T>G	c.(1414-1416)gcT>gcG	p.A472A	FBXO38_ENST00000513826.1_Silent_p.A472A|FBXO38_ENST00000296701.6_Silent_p.A472A|FBXO38_ENST00000394370.3_Silent_p.A472A			Q6PIJ6	FBX38_HUMAN	F-box protein 38	472						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGTTGTGCTCGAGTTGGTC	0.373													18	50					0	0	0	0	G	147796565	T	G	147796565	2	3	67	1	0	0	0	0	0	0	0	1	5791	1538	54	5		5	FBXO38	5	147796565	Silent	SNP	T	TCGA-CN-4734-01A-01D-1434-08	7205961	147796565	33118695	59	13044											
NIPAL4	348938	broad.mit.edu	37	chr5	156895764	156895764	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgccaactttggagcctaCgcatttgcacctgcaacagt	9	11	9	12	1	0	0	0	0	0	0	0	1	0	1	3	1	7	4	3	1	3	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:156895764C>T	ENST00000311946.7	+	4	671	c.555C>T	c.(553-555)taC>taT	p.Y185Y	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Silent_p.Y166Y	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	185						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TTGGAGCCTACGCATTTGCAC	0.507													36	96					0	0	0	0	T	156895764	C	T	156895764	2	4	67	1	0	0	0	0	0	0	0	1	10497	547	19	1		1	NIPAL4	5	156895764	Silent	SNP	C	TCGA-CN-4734-01A-01D-1434-08	9099199	156895764	24019496	60	13045											
MGAT4B	11282	broad.mit.edu	37	chr5	179228838	179228838	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctcgcagcgcctgcctttCtgacacggccctcttgatct	4	12	9	16	3	4	2	0	2	4	0	5	2	4	2	3	1	2	1	3	1	0	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:179228838C>G	ENST00000337755.5	-	1	1160	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	MGAT4B_ENST00000292591.7_Missense_Mutation_p.E77Q|MGAT4B_ENST00000521305.1_5'UTR	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	77					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCTGCCTTTCTGACACGGCC	0.672											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	35					0	0	0	0	G	179228838	C	G	179228838	3	3	67	1	0	0	0	0	1	0	0	0	9615	922	32	2	1473	2	MGAT4B	5	179228838	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	22333074	179228838	1686422	61	13046											
PRL	5617	broad.mit.edu	37	chr6	22294711	22294711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcgcggtcaaacaggtctCgaagggtcacctggcatcgg	8	6	15	12	5	3	0	2	0	1	0	5	1	3	0	1	6	1	1	1	6	2	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:22294711C>T	ENST00000306482.1	-	2	649	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	44					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					AAACAGGTCTCGAAGGGTCAC	0.602													12	33					0	0	0	0	T	22294711	C	T	22294711	3	4	67	1	0	0	0	0	1	0	0	0	12608	884	31	1	568	1	PRL	6	22294711	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08		22294711	148820356	62	13047											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156774	26156774	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgttgccgcctccaaGgagcgcagcggcgtatcttt	8	9	12	12	4	1	0	0	0	1	0	2	1	2	1	3	2	4	4	3	2	3	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:26156774G>A	ENST00000304218.3	+	1	216	c.156G>A	c.(154-156)aaG>aaA	p.K52K		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	52	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CCGCCTCCAAGGAGCGCAGCG	0.607													7	56					0	0	0	0	A	26156774	G	A	26156774	2	1	67	1	0	0	0	0	0	0	0	1	7176	991	35	4		4	HIST1H1E	6	26156774	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	3862063	26156774	144958293	63	13048											
DST	667	broad.mit.edu	37	chr6	56443679	56443679	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctaaaagcacttcagcCgttttcttcagtttctctac	9	15	5	12	1	5	0	2	0	3	0	6	0	5	0	1	0	3	4	1	0	3	7			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:56443679C>T	ENST00000370754.5	-	50	12866	c.12867G>A	c.(12865-12867)acG>acA	p.T4289T	DST_ENST00000361203.3_Silent_p.T4109T|DST_ENST00000312431.6_Silent_p.T4109T|DST_ENST00000421834.2_Silent_p.T2023T|DST_ENST00000370769.4_Silent_p.T4111T|DST_ENST00000446842.2_Silent_p.T3785T|DST_ENST00000244364.6_Silent_p.T1697T|DST_ENST00000370788.2_Silent_p.T2023T			Q03001	DYST_HUMAN	dystonin	4109					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCACTTCAGCCGTTTTCTTCA	0.413													7	22					0	0	0	0	T	56443679	C	T	56443679	2	4	67	1	0	0	0	0	0	0	0	1	4819	639	23	1		1	DST	6	56443679	Silent	SNP	C	TCGA-CN-4734-01A-01D-1434-08	30286905	56443679	114671388	64	13049											
BAI3	577	broad.mit.edu	37	chr6	70098604	70098604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctcaacaggaaaaccccGcaccaaacaagaatccatgg	16	5	6	14	1	1	1	1	0	1	1	3	2	2	2	4	2	3	1	4	2	6	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:70098604G>A	ENST00000370598.1	+	32	5211	c.4390G>A	c.(4390-4392)Gca>Aca	p.A1464T	BAI3_ENST00000546190.1_Missense_Mutation_p.A428T|BAI3_ENST00000238918.8_Missense_Mutation_p.A670T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1464					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A1464T(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGAAAACCCCGCACCAAACAA	0.448													9	31					0	0	0	0	A	70098604	G	A	70098604	3	1	67	1	0	0	0	0	1	0	0	0	1304	1087	38	1	4508	1	BAI3	6	70098604	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	13654925	70098604	101016463	65	13050											
EEF1A1	1915	broad.mit.edu	37	chr6	74228304	74228304	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggtttgagaacaccagtctCcactcggccaacaggaacag	12	6	11	12	1	1	1	0	1	1	1	3	3	1	2	3	3	3	1	3	3	3	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:74228304C>G	ENST00000316292.9	-	5	1793	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	EEF1A1_ENST00000309268.6_Missense_Mutation_p.E268Q|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.E268Q	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	268						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACACCAGTCTCCACTCGGCCA	0.418											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	77					0	0	0	0	G	74228304	C	G	74228304	3	3	67	1	0	0	0	0	1	0	0	0	4959	864	30	2	598	2	EEF1A1	6	74228304	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	4129700	74228304	96886763	66	13051											
ZNF292	23036	broad.mit.edu	37	chr6	87964636	87964636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataccaaattctttacgctGtgagctgttacttgtattga	11	16	7	7	1	1	2	0	2	1	0	1	2	1	2	1	0	4	4	1	0	6	8			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:87964636G>A	ENST00000369577.3	+	8	1332	c.1289G>A	c.(1288-1290)tGt>tAt	p.C430Y	ZNF292_ENST00000339907.4_Missense_Mutation_p.C425Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCTTTACGCTGTGAGCTGTTA	0.388													10	46					0	0	0	0	A	87964636	G	A	87964636	3	1	67	1	0	0	0	0	1	0	0	0	17921	1377	48	4	1319	4	ZNF292	6	87964636	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	13736332	87964636	83150431	67	13052											
THEMIS	387357	broad.mit.edu	37	chr6	128150927	128150927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgagttgagcatgatttGctcaccctgctttatgatga	10	14	9	8	0	1	5	1	5	0	0	1	5	1	5	1	0	4	4	1	0	2	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:128150927G>T	ENST00000368250.1	-	4	664	c.166C>A	c.(166-168)Caa>Aaa	p.Q56K	THEMIS_ENST00000368248.2_Missense_Mutation_p.Q135K|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q135K|THEMIS_ENST00000537166.1_Missense_Mutation_p.Q100K			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	135	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGCATGATTTGCTCACCCTGC	0.403													69	196					3.31162e-33	3.72975e-33	1	0	T	128150927	G	T	128150927	3	4	67	1	0	0	0	0	1	0	0	0	15954	1328	46	4	1659	4	THEMIS	6	128150927	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	40186291	128150927	42964140	68	13053											
SHPRH	257218	broad.mit.edu	37	chr6	146271470	146271470	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctctctttggtagggtctCaacacagggatcaatgcagg	9	10	12	10	0	3	0	2	0	2	0	5	1	3	1	1	4	2	2	1	4	3	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:146271470C>G	ENST00000367503.3	-	4	1310	c.912G>C	c.(910-912)ttG>ttC	p.L304F	SHPRH_ENST00000367505.2_Missense_Mutation_p.L304F|SHPRH_ENST00000438092.2_Missense_Mutation_p.L304F|SHPRH_ENST00000275233.7_Missense_Mutation_p.L304F	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	304					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GGTAGGGTCTCAACACAGGGA	0.433													3	218					0	0	0	0	G	146271470	C	G	146271470	3	3	67	1	0	0	0	0	1	0	0	0	14379	825	29	2	4291	2	SHPRH	6	146271470	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	18120543	146271470	24843597	69	13054											
MAD1L1	8379	broad.mit.edu	37	chr7	2265120	2265120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgactcagctccatctgCattttctcccgctccacctg	5	14	6	16	1	3	1	1	1	2	0	6	1	5	1	4	0	2	3	4	0	0	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:2265120C>T	ENST00000406869.1	-	4	773	c.216G>A	c.(214-216)atG>atA	p.M72I	MAD1L1_ENST00000402746.1_Intron|MAD1L1_ENST00000399654.2_Missense_Mutation_p.M72I|MAD1L1_ENST00000265854.7_Missense_Mutation_p.M72I			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	72					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCTCCATCTGCATTTTCTCCC	0.587													38	93					0	0	0	0	T	2265120	C	T	2265120	3	4	67	1	0	0	0	0	1	0	0	0	9212	710	25	4	2004	4	MAD1L1	7	2265120	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08		2265120	156873543	70	13055											
SP4	6671	broad.mit.edu	37	chr7	21469033	21469033	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaaggattggtgcaacttCaaaatcaaccacaacagcta	16	8	7	10	0	3	0	3	0	0	0	3	1	3	1	1	2	5	2	1	2	7	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:21469033C>T	ENST00000222584.3	+	3	468	c.250C>T	c.(250-252)Caa>Taa	p.Q84*		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	84					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GGTGCAACTTCAAAATCAACC	0.433													29	69					0	0	0	0	T	21469033	C	T	21469033	4	4	67	1	0	0	0	0	0	1	0	0	15054	827	29	2	260	2	SP4	7	21469033	Nonsense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	19203913	21469033	137669630	71	13056											
GCK	2645	broad.mit.edu	37	chr7	44185251	44185251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctcgcaggcgcggcgcacGatgtcgcagtcggtggtcga	5	7	16	13	8	1	0	0	0	1	0	5	2	1	0	0	4	0	3	0	4	0	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:44185251G>A	ENST00000403799.3	-	9	1567	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	GCK_ENST00000395796.3_Silent_p.I365I|GCK_ENST00000345378.2_Silent_p.I367I|GCK_ENST00000437084.1_Silent_p.I349I	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	366					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGCGGCGCACGATGTCGCAGT	0.706													7	23					0	0	0	0	A	44185251	G	A	44185251	2	1	67	1	0	0	0	0	0	0	0	1	6342	1048	37	1		1	GCK	7	44185251	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	22716218	44185251	114953412	72	13057											
PURB	5814	broad.mit.edu	37	chr7	44924866	44924866	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctgcgtctcttgctCgccgccgccgcgggacgcgg	2	7	14	18	8	1	0	0	0	1	0	4	1	2	1	4	2	3	2	4	2	0	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:44924866C>A	ENST00000395699.2	-	1	94	c.82G>T	c.(82-84)Gag>Tag	p.E28*		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	28					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GTCTCTTGCTCGCCGCCGCCG	0.692													4	12					2.0095e-06	2.09401e-06	1	0	A	44924866	C	A	44924866	4	1	67	1	0	0	0	0	0	1	0	0	12910	893	31	3	860	3	PURB	7	44924866	Nonsense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	739615	44924866	114213797	73	13058											
MAGI2	9863	broad.mit.edu	37	chr7	78131057	78131057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcaggataaggctgggaggGcatctcccctgaggcacctg	8	7	15	11	0	1	1	0	1	1	0	2	3	1	3	3	5	1	4	3	5	1	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:78131057G>A	ENST00000354212.4	-	5	1055	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	MAGI2_ENST00000536571.1_Missense_Mutation_p.P100S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P268S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P105S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P268S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	268	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGCTGGGAGGGCATCTCCCCT	0.498													4	94					0	0	0	0	A	78131057	G	A	78131057	3	1	67	1	0	0	0	0	1	0	0	0	9260	1203	42	4	3637	4	MAGI2	7	78131057	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	33206191	78131057	81007606	74	13059											
RUNDC3B	154661	broad.mit.edu	37	chr7	87459257	87459257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctctaacgtcagtggcaaGttacaagtctctaacaagct	13	11	7	10	1	3	0	1	0	2	0	5	0	3	0	0	1	4	3	0	1	6	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:87459257G>C	ENST00000338056.3	+	12	1745	c.1334G>C	c.(1333-1335)aGt>aCt	p.S445T	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.S379T|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.S428T	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	445										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TCAGTGGCAAGTTACAAGTCT	0.378													55	163					0	0	0	0	C	87459257	G	C	87459257	3	2	67	1	0	0	0	0	1	0	0	0	13830	1029	36	4	1380	4	RUNDC3B	7	87459257	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	9328200	87459257	71679406	75	13060											
SPDYE3	441272	broad.mit.edu	37	chr7	99917323	99917323	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatgccgtcccatgaacccGagggccaggaagaactgctc	10	7	11	13	2	0	2	0	1	0	1	2	4	1	3	4	2	4	1	4	2	4	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:99917323G>A	ENST00000332397.6	+	9	1666	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P	SPDYE3_ENST00000437326.2_Silent_p.P117P	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	494										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CCATGAACCCGAGGGCCAGGA	0.547													37	118					0	0	0	0	A	99917323	G	A	99917323	2	1	67	1	0	0	0	0	0	0	0	1	15120	1045	37	1		1	SPDYE3	7	99917323	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	12458066	99917323	59221340	76	13061											
LAMB4	22798	broad.mit.edu	37	chr7	107752256	107752256	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggaacttaaatcatacCattttcagattgccaccatt	15	12	5	9	0	2	1	2	0	0	1	2	3	2	2	3	1	3	0	3	1	5	6			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:107752256C>A	ENST00000388781.3	-	4	411	c.328_splice	c.e4+1	p.G110_splice	LAMB4_ENST00000414450.2_Splice_Site_p.G110_splice|LAMB4_ENST00000388780.3_Splice_Site_p.G110_splice|LAMB4_ENST00000205386.4_Splice_Site_p.G110_splice	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	110	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TAAATCATACCATTTTCAGAT	0.338													40	89					6.2361e-21	6.91866e-21	1	0	A	107752256	C	A	107752256	5	1	67	1	0	0	0	0	0	0	1	0	8666	608	21	4	5081	4	LAMB4	7	107752256	Splice_Site	SNP	C	TCGA-CN-4734-01A-01D-1434-08	7834933	107752256	51386407	77	13062											
CADPS2	93664	broad.mit.edu	37	chr7	122033249	122033249	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataagtgaggaatacacaCgtggactcatataaagaagg	19	7	10	5	1	1	2	1	1	0	1	1	4	1	4	0	3	1	0	0	3	8	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:122033249C>T	ENST00000334010.7	-	20	3424		c.e20+1		CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Splice_Site|CADPS2_ENST00000412584.2_Intron|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2						exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GGAATACACACGTGGACTCAT	0.458													8	27					0	0	0	0	T	122033249	C	T	122033249	5	4	67	1	0	0	0	0	0	0	1	0	2596	550	19	1	936	1	CADPS2	7	122033249	Splice_Site	SNP	C	TCGA-CN-4734-01A-01D-1434-08	14280993	122033249	37105414	78	13063											
TAS2R38	5726	broad.mit.edu	37	chr7	141672668	141672668	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcacccctattttgtcGcgccacagaatcagtagggg	10	9	9	13	2	2	1	2	0	0	1	3	1	2	1	4	2	0	1	4	2	3	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:141672668G>A	ENST00000547270.1	-	1	905	c.822C>T	c.(820-822)cgC>cgT	p.R274R		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	274					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CTATTTTGTCGCGCCACAGAA	0.502													23	67					0	0	0	0	A	141672668	G	A	141672668	2	1	67	1	0	0	0	0	0	0	0	1	15666	1074	38	1		1	TAS2R38	7	141672668	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	19639419	141672668	17465995	79	13064											
RP1L1	94137	broad.mit.edu	37	chr8	10480315	10480315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggcttcacgctggccttCgacatcccgcaactgctgag	6	9	12	14	3	1	1	1	1	0	0	3	2	2	1	2	3	2	4	2	3	1	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:10480315C>T	ENST00000382483.3	-	2	620	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	133					intracellular signal transduction					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)		CGCTGGCCTTCGACATCCCGC	0.607													36	57					0	0	0	0	T	10480315	C	T	10480315	3	4	67	1	0	0	0	0	1	0	0	0	13618	893	31	1	6817	1	RP1L1	8	10480315	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08		10480315	135883707	80	13065											
FDFT1	2222	broad.mit.edu	37	chr8	11679320	11679320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgattgccgacatttgccGgagaatgggcattgggatgg	9	10	16	6	2	0	2	0	1	0	1	0	5	0	3	2	4	2	1	2	4	1	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:11679320G>A	ENST00000220584.4	+	4	665	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000528643.1_Missense_Mutation_p.R63Q|FDFT1_ENST00000538689.1_Missense_Mutation_p.R37Q|FDFT1_ENST00000443614.2_Intron|FDFT1_ENST00000528812.1_Missense_Mutation_p.R84Q|FDFT1_ENST00000530664.1_Missense_Mutation_p.R84Q|FDFT1_ENST00000525777.1_Missense_Mutation_p.R63Q|FDFT1_ENST00000525900.1_Missense_Mutation_p.R141Q	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	148					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GACATTTGCCGGAGAATGGGC	0.423													4	200					0	0	0	0	A	11679320	G	A	11679320	3	1	67	1	0	0	0	0	1	0	0	0	5847	1116	39	1	457	1	FDFT1	8	11679320	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	1199005	11679320	134684702	81	13066											
DLC1	10395	broad.mit.edu	37	chr8	12957760	12957760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcttgcaagatgggccCgctgatgatcaaccccagct	8	8	9	16	1	2	3	1	2	1	1	2	3	2	3	5	1	3	3	5	1	2	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:12957760C>T	ENST00000276297.4	-	9	2495	c.2086G>A	c.(2086-2088)Ggg>Agg	p.G696R	DLC1_ENST00000358919.2_Missense_Mutation_p.G259R|DLC1_ENST00000512044.2_Missense_Mutation_p.G293R|DLC1_ENST00000520226.1_Missense_Mutation_p.G185R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	696					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAGATGGGCCCGCTGATGATC	0.572													92	110					0	0	0	0	T	12957760	C	T	12957760	3	4	67	1	0	0	0	0	1	0	0	0	4587	652	23	1	2540	1	DLC1	8	12957760	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	1278440	12957760	133406262	82	13067											
TRIM35	23087	broad.mit.edu	37	chr8	27145246	27145246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagacagctcgccctcctCacactccagctccacacgca	11	5	6	19	2	1	1	1	0	0	1	5	2	4	1	4	0	2	3	4	0	1	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:27145246C>T	ENST00000305364.4	-	6	1386	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	435	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		TCGCCCTCCTCACACTCCAGC	0.682													5	10					0	0	0	0	T	27145246	C	T	27145246	3	4	67	1	0	0	0	0	1	0	0	0	16604	835	29	2	182	2	TRIM35	8	27145246	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	14187486	27145246	119218776	83	13068											
RSPO2	340419	broad.mit.edu	37	chr8	108913336	108913336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctgtagctaggaagacGctgtgttgctcctgggccct	5	12	13	11	1	1	1	0	0	1	1	2	2	2	2	2	2	2	5	2	2	3	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:108913336G>T	ENST00000276659.5	-	6	1319	c.699C>A	c.(697-699)agC>agA	p.S233R	RSPO2_ENST00000517939.1_Missense_Mutation_p.S166R|RSPO2_ENST00000517781.1_Missense_Mutation_p.S169R|RSPO2_ENST00000378439.2_Missense_Mutation_p.S169R	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	233					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTAGGAAGACGCTGTGTTGCT	0.433													22	147					5.35356e-11	5.71217e-11	1	0	T	108913336	G	T	108913336	3	4	67	1	0	0	0	0	1	0	0	0	13795	1078	38	3	36	3	RSPO2	8	108913336	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	81768090	108913336	37450686	84	13069											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119938851	119938851	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctctctacactctctgcGtttactttggtgccaggcaa	7	14	7	13	1	2	0	0	0	2	0	5	0	3	0	2	2	4	2	2	2	3	4	rs150457771		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:119938851G>A	ENST00000297350.4	-	4	1077	c.699C>T	c.(697-699)aaC>aaT	p.N233N		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	233	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CACTCTCTGCGTTTACTTTGG	0.443													52	201					0	0	0	0	A	119938851	G	A	119938851	2	1	67	1	0	0	0	0	0	0	0	1	16379	1136	40	1		1	TNFRSF11B	8	119938851	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	11025515	119938851	26425171	85	13070											
KCNQ3	3786	broad.mit.edu	37	chr8	133144493	133144493	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttctgatgtggatggtctGgctacatatggttcattcct	7	17	10	7	0	3	1	1	1	2	0	4	2	4	2	1	4	1	2	1	4	2	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:133144493G>C	ENST00000388996.4	-	14	2238	c.1818C>G	c.(1816-1818)gcC>gcG	p.A606A	KCNQ3_ENST00000519445.1_Silent_p.A594A|KCNQ3_ENST00000521134.1_Silent_p.A486A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	606					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGGATGGTCTGGCTACATATG	0.403													57	71					0	0	0	0	C	133144493	G	C	133144493	2	2	67	1	0	0	0	0	0	0	0	1	8137	1335	47	4		4	KCNQ3	8	133144493	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	13205642	133144493	13219529	86	13071											
TG	7038	broad.mit.edu	37	chr8	133978843	133978843	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccctgtggacctcaacCaggtcattgtcaatggaaat	10	11	8	12	0	4	0	3	0	1	0	5	2	4	2	4	3	1	0	4	3	3	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:133978843C>A	ENST00000220616.4	+	30	5627	c.5587C>A	c.(5587-5589)Cag>Aag	p.Q1863K	TG_ENST00000377869.1_Missense_Mutation_p.Q1806K|TG_ENST00000542445.1_Missense_Mutation_p.Q233K|TG_ENST00000519543.1_Missense_Mutation_p.Q17K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1863					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGACCTCAACCAGGTCATTGT	0.453													35	155					2.52637e-11	2.70856e-11	1	0	A	133978843	C	A	133978843	3	1	67	1	0	0	0	0	1	0	0	0	15907	595	21	4	5705	4	TG	8	133978843	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	834350	133978843	12385179	87	13072											
CYP11B1	1584	broad.mit.edu	37	chr8	143956467	143956467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcacgtggtagaagttcctgCcggagcccctgatgtctagc	7	9	13	12	2	1	2	0	1	1	1	2	3	2	3	4	2	3	3	4	2	3	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:143956467C>T	ENST00000292427.4	-	8	1336	c.1304G>A	c.(1303-1305)gGc>gAc	p.G435D	CYP11B1_ENST00000377675.3_Missense_Mutation_p.G506D|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	435					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GAAGTTCCTGCCGGAGCCCCT	0.637									Familial Hyperaldosteronism type I				59	110					0	0	0	0	T	143956467	C	T	143956467	3	4	67	1	0	0	0	0	1	0	0	0	4177	739	26	4	215	4	CYP11B1	8	143956467	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	9977624	143956467	2407555	88	13073											
PLEC	5339	broad.mit.edu	37	chr8	144991583	144991583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccactcggcgcttgcgcaCggaggacttggaggacgtct	7	7	15	12	5	1	0	0	0	1	0	2	5	1	4	1	5	1	2	1	5	0	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:144991583C>T	ENST00000322810.4	-	32	12986	c.12817G>A	c.(12817-12819)Gtg>Atg	p.V4273M	PLEC_ENST00000357649.2_Missense_Mutation_p.V4140M|PLEC_ENST00000354958.2_Missense_Mutation_p.V4114M|PLEC_ENST00000345136.3_Missense_Mutation_p.V4136M|PLEC_ENST00000527096.1_Missense_Mutation_p.V4159M|PLEC_ENST00000354589.3_Missense_Mutation_p.V4136M|PLEC_ENST00000398774.2_Missense_Mutation_p.V4104M|PLEC_ENST00000436759.2_Missense_Mutation_p.V4163M|PLEC_ENST00000356346.3_Missense_Mutation_p.V4122M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4273	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTTGCGCACGGAGGACTTG	0.617													25	106					0	0	0	0	T	144991583	C	T	144991583	3	4	67	1	0	0	0	0	1	0	0	0	12124	536	19	1	1241	1	PLEC	8	144991583	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	1035116	144991583	1372439	89	13074											
SMARCA2	6595	broad.mit.edu	37	chr9	2039806	2039806	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcaacagcagcc	14	0	12	15	0	0	0	0	0	0	0	0	0	0	0	1	0	13	11	1	0	1	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:2039806G>A	ENST00000382203.1	+	4	905	c.696G>A	c.(694-696)caG>caA	p.Q232Q	SMARCA2_ENST00000382194.1_Silent_p.Q232Q|SMARCA2_ENST00000357248.2_Silent_p.Q232Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Silent_p.Q232Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	232	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcagcagcagcagc	0.602													2	1					0	0	0	0	A	2039806	G	A	2039806	2	1	67	1	0	0	0	0	0	0	0	1	14857	962	34	4		4	SMARCA2	9	2039806	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08		2039806	139173625	90	13075											
IFNA16	3449	broad.mit.edu	37	chr9	21216761	21216761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccttcttaatcctttttGcaagtttgttgaaaaagaga	11	17	6	7	0	1	2	0	1	1	1	3	3	3	2	2	0	1	3	2	0	4	7			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:21216761G>T	ENST00000380216.1	-	1	549	c.544C>A	c.(544-546)Caa>Aaa	p.Q182K		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	182					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AATCCTTTTTGCAAGTTTGTT	0.373													190	422					8.32648e-103	9.57116e-103	1	0	T	21216761	G	T	21216761	3	4	67	1	0	0	0	0	1	0	0	0	7588	1328	46	4	29	4	IFNA16	9	21216761	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	19176955	21216761	119996670	91	13076											
DMRTA1	63951	broad.mit.edu	37	chr9	22451198	22451198	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtatcgggtcatctatttCagaatactccaacaagcctg	13	11	7	10	1	3	1	2	0	1	1	5	1	4	1	2	1	3	1	2	1	7	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:22451198C>G	ENST00000325870.1	+	2	1028	c.803C>G	c.(802-804)tCa>tGa	p.S268*		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	268					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TCATCTATTTCAGAATACTCC	0.448													44	77					0	0	0	0	G	22451198	C	G	22451198	4	3	67	1	0	0	0	0	0	1	0	0	4625	838	29	2	809	2	DMRTA1	9	22451198	Nonsense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	1234437	22451198	118762233	92	13077											
DMRTA1	63951	broad.mit.edu	37	chr9	22451226	22451226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tccaacaagcctgatagtatCctgtctcctcatcctggaga	10	11	7	13	0	2	2	1	1	1	1	6	3	5	2	5	1	2	1	5	1	4	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:22451226C>G	ENST00000325870.1	+	2	1056	c.831C>G	c.(829-831)atC>atG	p.I277M		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	277					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CTGATAGTATCCTGTCTCCTC	0.438													39	66					0	0	0	0	G	22451226	C	G	22451226	3	3	67	1	0	0	0	0	1	0	0	0	4625	845	30	2	837	2	DMRTA1	9	22451226	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	28	22451226	118762205	93	13078											
COL5A1	1289	broad.mit.edu	37	chr9	137591821	137591821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaaggcagccaggcctTcctggtctccatctacaacg	11	7	9	14	1	2	1	0	0	2	1	4	1	3	1	4	3	3	1	4	3	4	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:137591821T>C	ENST00000371817.3	+	3	758	c.344T>C	c.(343-345)tTc>tCc	p.F115S	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	115	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCCAGGCCTTCCTGGTCTCC	0.587													30	93					0	0	0	0	C	137591821	T	C	137591821	3	2	67	1	0	0	0	0	1	0	0	0	3726	1783	62	5	354	5	COL5A1	9	137591821	Missense_Mutation	SNP	T	TCGA-CN-4734-01A-01D-1434-08	115140595	137591821	3621610	94	13079											
KIAA1984	84960	broad.mit.edu	37	chr9	139701274	139701274	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgtactgcgaggggaagctCacgtacctggctgacagagt	9	7	15	10	3	1	2	1	1	0	1	1	4	1	3	1	3	4	4	1	3	3	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:139701274C>T	ENST00000338005.6	+	12	1379	c.1344C>T	c.(1342-1344)ctC>ctT	p.L448L	KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	448										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGGGGAAGCTCACGTACCTGG	0.617													11	50					0	0	0	0	T	139701274	C	T	139701274	2	4	67	1	0	0	0	0	0	0	0	1	8317	813	29	2		2	KIAA1984	9	139701274	Silent	SNP	C	TCGA-CN-4734-01A-01D-1434-08	2109453	139701274	1512157	95	13080											
C10orf113	387638	broad.mit.edu	37	chr10	21435284	21435284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actctacctgttcatgtctgGaatgtacatttcagccacac	10	13	6	12	0	4	0	2	0	2	0	4	1	4	1	2	1	3	2	2	1	3	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr10:21435284G>A	ENST00000529198.1	-	1	204	c.154C>T	c.(154-156)Cca>Tca	p.P52S	C10orf113_ENST00000377118.4_Missense_Mutation_p.P42S|C10orf113_ENST00000534331.1_Missense_Mutation_p.P52S|NEBL_ENST00000417816.2_Intron	NM_001177483.1	NP_001170954.1	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	52										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTCATGTCTGGAATGTACATT	0.443													31	106					0	0	0	0	A	21435284	G	A	21435284	3	1	67	1	0	0	0	0	1	0	0	0	1594	1174	41	2	356	2	C10orf113	10	21435284	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08		21435284	114099463	96	13081											
CYP26A1	1592	broad.mit.edu	37	chr10	94834671	94834671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaccccgaggtgaagcgcCtcatgttccgaatcgccatg	8	9	10	14	4	2	1	1	1	1	0	4	3	3	1	5	1	2	1	5	1	3	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr10:94834671C>T	ENST00000371531.1	+	3	721	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	CYP26A1_ENST00000394139.1_Missense_Mutation_p.L115F|CYP26A1_ENST00000224356.4_Missense_Mutation_p.L184F	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	184					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				GGTGAAGCGCCTCATGTTCCG	0.652													3	105					0	0	0	0	T	94834671	C	T	94834671	3	4	67	1	0	0	0	0	1	0	0	0	4187	681	24	4	560	4	CYP26A1	10	94834671	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	73399387	94834671	40700076	97	13082											
TM9SF3	56889	broad.mit.edu	37	chr10	98312702	98312702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccatatcatccatttcttCctctttactgtaccgagcat	9	15	3	14	1	3	0	1	0	2	0	5	1	5	0	4	0	3	2	4	0	3	6			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr10:98312702C>T	ENST00000371142.4	-	6	991	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	259						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TCCATTTCTTCCTCTTTACTG	0.313													16	45					0	0	0	0	T	98312702	C	T	98312702	3	4	67	1	0	0	0	0	1	0	0	0	16073	864	30	2	1034	2	TM9SF3	10	98312702	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	3478031	98312702	37222045	98	13083											
FAM196A	642938	broad.mit.edu	37	chr10	128974488	128974488	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtgtgtccctctgctCattctgtgcctcgcagatat	5	14	9	13	1	3	1	1	0	2	1	5	1	4	1	2	0	3	3	2	0	1	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr10:128974488C>A	ENST00000522781.1	-	4	727	c.172G>T	c.(172-174)Gag>Tag	p.E58*	FAM196A_ENST00000424811.2_Nonsense_Mutation_p.E58*|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	58										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCCTCTGCTCATTCTGTGCC	0.587													56	187					4.00338e-15	4.37624e-15	1	0	A	128974488	C	A	128974488	4	1	67	1	0	0	0	0	0	1	0	0	5571	835	29	2	1279	2	FAM196A	10	128974488	Nonsense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	30661786	128974488	6560259	99	13084											
OR52B6	340980	broad.mit.edu	37	chr11	5602923	5602923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatcctactcttctatgtcCctgcgcttttttctgtcttt	3	21	4	13	1	5	0	1	0	4	0	7	0	7	0	2	0	2	1	2	0	2	7			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:5602923C>A	ENST00000345043.2	+	1	817	c.817C>A	c.(817-819)Cct>Act	p.P273T	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCTATGTCCCTGCGCTTTT	0.517													54	233					1.91123e-38	2.16347e-38	1	0	A	5602923	C	A	5602923	3	1	67	1	0	0	0	0	1	0	0	0	11184	623	22	4	819	4	OR52B6	11	5602923	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08		5602923	129403593	100	13085											
DNHD1	144132	broad.mit.edu	37	chr11	6540999	6540999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgcagctgggaaagtttgCccgcctggttgactacatga	8	10	13	10	1	0	2	0	2	0	0	0	3	0	3	2	2	4	5	2	2	2	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:6540999C>T	ENST00000254579.6	+	8	2126	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	DNHD1_ENST00000354685.3_Missense_Mutation_p.A521V|DNHD1_ENST00000527990.2_Missense_Mutation_p.A521V	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	521					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGAAAGTTTGCCCGCCTGGTT	0.522													4	101					0	0	0	0	T	6540999	C	T	6540999	3	4	67	1	0	0	0	0	1	0	0	0	4704	739	26	4	1584	4	DNHD1	11	6540999	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	938076	6540999	128465517	101	13086											
IPO7	10527	broad.mit.edu	37	chr11	9430055	9430055	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttatctatctgaaaaatatGataacacagtattggcctga	15	13	7	6	0	2	3	0	3	2	0	2	3	2	3	1	1	1	2	1	1	7	6			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:9430055G>C	ENST00000379719.3	+	3	331	c.189G>C	c.(187-189)atG>atC	p.M63I		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	63	Importin N-terminal.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGAAAAATATGATAACACAGT	0.363													20	59					0	0	0	0	C	9430055	G	C	9430055	3	2	67	1	0	0	0	0	1	0	0	0	7850	1290	45	2	199	2	IPO7	11	9430055	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	2889056	9430055	125576461	102	13087											
EIF4G2	1982	broad.mit.edu	37	chr11	10821202	10821202	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggggatggatccaactttaTttgcttcaacagttccttct	9	15	8	9	0	2	0	1	0	1	0	4	2	4	2	2	3	3	2	2	3	3	6			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:10821202T>C	ENST00000526148.1	-	19	2731	c.2221A>G	c.(2221-2223)Ata>Gta	p.I741V	EIF4G2_ENST00000339995.5_Missense_Mutation_p.I741V|EIF4G2_ENST00000396525.2_Missense_Mutation_p.I703V|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.I741V	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	741	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCCAACTTTATTTGCTTCAAC	0.368													43	127					0	0	0	0	C	10821202	T	C	10821202	3	2	67	1	0	0	0	0	1	0	0	0	5075	1493	52	5	518	5	EIF4G2	11	10821202	Missense_Mutation	SNP	T	TCGA-CN-4734-01A-01D-1434-08	1391147	10821202	124185314	103	13088											
CYP2R1	120227	broad.mit.edu	37	chr11	14902248	14902248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttggccatatccaaaatatCgaaaactgtttacagctaat	15	13	5	8	1	0	0	0	0	0	0	2	1	1	0	2	1	3	2	2	1	8	6			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:14902248C>G	ENST00000334636.5	-	3	480	c.434G>C	c.(433-435)cGa>cCa	p.R145P	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Intron	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	145					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TCCAAAATATCGAAAACTGTT	0.323													12	58					0	0	0	0	G	14902248	C	G	14902248	3	3	67	1	0	0	0	0	1	0	0	0	4205	884	31	3	1083	3	CYP2R1	11	14902248	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	4081046	14902248	120104268	104	13089											
PRG2	5553	broad.mit.edu	37	chr11	57155245	57155245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgggtacacagggccaCgcagtgaccaccgcgggacc	9	3	13	16	4	0	1	0	1	0	0	1	2	0	2	5	3	1	2	5	3	1	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:57155245C>T	ENST00000311862.5	-	5	665	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	PRG2_ENST00000533605.1_Missense_Mutation_p.V187M|PRG2_ENST00000525955.1_Missense_Mutation_p.V198M	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)		CACAGGGCCACGCAGTGACCA	0.617													3	14					0	0	0	0	T	57155245	C	T	57155245	3	4	67	1	0	0	0	0	1	0	0	0	12559	536	19	1	84	1	PRG2	11	57155245	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	42252997	57155245	77851271	105	13090											
OR10W1	81341	broad.mit.edu	37	chr11	58034971	58034971	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaggagagggtactgcaaCgggtggcaaatggccacata	13	6	15	7	1	0	2	0	1	0	1	0	3	0	2	1	5	3	3	1	5	4	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:58034971C>T	ENST00000395079.2	-	1	761	c.360G>A	c.(358-360)ccG>ccA	p.P120P		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P120P(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GGTACTGCAACGGGTGGCAAA	0.532													9	36					0	0	0	0	T	58034971	C	T	58034971	2	4	67	1	0	0	0	0	0	0	0	1	10992	523	19	1		1	OR10W1	11	58034971	Silent	SNP	C	TCGA-CN-4734-01A-01D-1434-08	879726	58034971	76971545	106	13091											
MRGPRF	116535	broad.mit.edu	37	chr11	68772961	68772961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacaggtcagtgacgtactCggggaagggggccgggatct	8	6	18	9	3	2	1	1	1	1	0	3	3	2	3	1	6	1	2	1	6	2	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:68772961C>T	ENST00000309099.6	-	3	1199	c.817G>A	c.(817-819)Gag>Aag	p.E273K	MRGPRF_ENST00000441623.1_Missense_Mutation_p.E273K	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	273						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTGACGTACTCGGGGAAGGGG	0.612													4	7					0	0	0	0	T	68772961	C	T	68772961	3	4	67	1	0	0	0	0	1	0	0	0	9835	893	31	1	218	1	MRGPRF	11	68772961	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	10737990	68772961	66233555	107	13092											
IL18BP	10068	broad.mit.edu	37	chr11	71712615	71712615	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggtgaggagcccaaggaGaggcctccaggaacaggagg	11	3	18	9	0	0	2	0	1	0	1	1	6	1	5	3	7	2	0	3	7	2	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:71712615G>C	ENST00000497194.2	+	4	1896	c.524G>C	c.(523-525)aGa>aCa	p.R175T	IL18BP_ENST00000531053.1_Missense_Mutation_p.R175T|IL18BP_ENST00000404792.1_Intron|IL18BP_ENST00000393705.4_Intron|IL18BP_ENST00000393703.4_Intron|IL18BP_ENST00000337131.5_Intron|IL18BP_ENST00000393707.4_Intron|IL18BP_ENST00000260049.5_Intron			O95998	I18BP_HUMAN	interleukin 18 binding protein	0					T-helper 1 type immune response	extracellular region	interleukin-18 binding|receptor antagonist activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGCCCAAGGAGAGGCCTCCAG	0.607													4	19					0	0	0	0	C	71712615	G	C	71712615	3	2	67	1	0	0	0	0	1	0	0	0	7699	957	33	2		2	IL18BP	11	71712615	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	2939654	71712615	63293901	108	13093											
DYNC2H1	79659	broad.mit.edu	37	chr11	102988581	102988581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttgacaaacttggcaaaCgccttgaagaggtatcaatt	14	10	8	9	1	1	3	1	2	0	1	1	3	1	3	1	2	2	2	1	2	5	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:102988581C>T	ENST00000375735.2	+	6	1132	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R330C|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R330C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	330	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACTTGGCAAACGCCTTGAAGA	0.333													9	38					0	0	0	0	T	102988581	C	T	102988581	3	4	67	1	0	0	0	0	1	0	0	0	4882	536	19	1	1010	1	DYNC2H1	11	102988581	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	31275966	102988581	32017935	109	13094											
PHLDB1	23187	broad.mit.edu	37	chr11	118506147	118506147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agactgagacaaagctctttGaggacttggagttccagcag	12	9	12	8	0	1	3	0	2	1	2	2	6	2	5	1	2	2	3	1	2	1	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:118506147G>C	ENST00000361417.2	+	11	2827	c.2416G>C	c.(2416-2418)Gag>Cag	p.E806Q	PHLDB1_ENST00000356063.5_Missense_Mutation_p.E806Q|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	806										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AAAGCTCTTTGAGGACTTGGA	0.637													46	149					0	0	0	0	C	118506147	G	C	118506147	3	2	67	1	0	0	0	0	1	0	0	0	11923	1291	45	2	2450	2	PHLDB1	11	118506147	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	15517566	118506147	16500369	110	13095											
ANO2	57101	broad.mit.edu	37	chr12	5941701	5941701	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaactcggggctgcaggtgCgagctcagcttctgcagagc	7	7	16	11	2	2	1	1	0	1	1	3	3	2	2	0	4	7	5	0	4	1	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:5941701C>T	ENST00000356134.5	-	6	764	c.693G>A	c.(691-693)tcG>tcA	p.S231S	ANO2_ENST00000327087.8_Silent_p.S230S|ANO2_ENST00000546188.1_Silent_p.S231S	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	235						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCTGCAGGTGCGAGCTCAGCT	0.507													18	101					0	0	0	0	T	5941701	C	T	5941701	2	4	67	1	0	0	0	0	0	0	0	1	696	755	27	1		1	ANO2	12	5941701	Silent	SNP	C	TCGA-CN-4734-01A-01D-1434-08		5941701	127910194	111	13096											
IFFO1	25900	broad.mit.edu	37	chr12	6659915	6659915	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttcaactgttccaccttCagtgccagctcctcctggca	6	11	7	17	0	2	0	2	0	0	0	5	0	5	0	6	1	3	3	6	1	1	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:6659915C>T	ENST00000336604.4	-	3	917	c.876G>A	c.(874-876)ctG>ctA	p.L292L	IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000396840.2_Silent_p.L292L|IFFO1_ENST00000465801.1_5'UTR|IFFO1_ENST00000356896.4_Silent_p.L292L	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	292						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GTTCCACCTTCAGTGCCAGCT	0.582													31	51					0	0	0	0	T	6659915	C	T	6659915	2	4	67	1	0	0	0	0	0	0	0	1	7563	813	29	2		2	IFFO1	12	6659915	Silent	SNP	C	TCGA-CN-4734-01A-01D-1434-08	718214	6659915	127191980	112	13097											
SPSB2	84727	broad.mit.edu	37	chr12	6980443	6980444	+	Frame_Shift_Del	DEL	CA	CA	-																															gtatcccccaggttgtggcgCacacacaggcggctcaggtg																										TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:6980443_6980444delCA	ENST00000524270.1	-	3	890_891	c.704_705delTG	c.(703-705)gfs	p.V235fs	SPSB2_ENST00000523102.1_Frame_Shift_Del_p.V235fs	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	235	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GGTTGTGGCGCACACACAGGCG	0.624													11	52	---	---	---	---					-	6980444	CA	-	6980443	7	5	67	1	0	1	0	1	0	0	0	0	15203	697	25	0	90	0	SPSB2	12	6980443	Frame_Shift_Del	DEL	CA	TCGA-CN-4734-01A-01D-1434-08	320528	6980443	126871452	113	13098											
FAM90A1	55138	broad.mit.edu	37	chr12	8374610	8374610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctggagctccagcgtccGttttccagtctccgaaagag	8	9	12	12	3	1	1	0	0	1	1	5	3	4	2	4	2	2	3	4	2	1	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:8374610G>A	ENST00000538603.1	-	7	1761	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N	FAM90A1_ENST00000307435.6_Silent_p.N401N	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	401							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCCAGCGTCCGTTTTCCAGTC	0.622													15	41					0	0	0	0	A	8374610	G	A	8374610	2	1	67	1	0	0	0	0	0	0	0	1	5695	1136	40	1		1	FAM90A1	12	8374610	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	1394167	8374610	125477285	114	13099											
LRP6	4040	broad.mit.edu	37	chr12	12284775	12284775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcacagttcttctcatctGatttgtcctggcagtttgca	6	17	7	11	0	4	1	2	1	3	0	6	1	5	1	1	1	1	4	1	1	0	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:12284775G>A	ENST00000261349.4	-	18	4026	c.3950C>T	c.(3949-3951)tCa>tTa	p.S1317L	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Missense_Mutation_p.S1272L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1317	LDL-receptor class A 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTTCTCATCTGATTTGTCCTG	0.448													38	150					0	0	0	0	A	12284775	G	A	12284775	3	1	67	1	0	0	0	0	1	0	0	0	9026	1294	45	2	915	2	LRP6	12	12284775	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	3910165	12284775	121567120	115	13100											
PIK3C2G	5288	broad.mit.edu	37	chr12	18473914	18473914	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcatgaagaggaccacagtCagttttatctgaatcaactt	14	11	8	8	0	3	3	2	2	1	1	3	4	3	4	1	1	2	2	1	1	4	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:18473914C>G	ENST00000433979.1	+	7	1272	c.1156C>G	c.(1156-1158)Cag>Gag	p.Q386E	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Q386E|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Q386E|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.Q386E	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	386					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGACCACAGTCAGTTTTATCT	0.333													6	34					0	0	0	0	G	18473914	C	G	18473914	3	3	67	1	0	0	0	0	1	0	0	0	11983	827	29	2	1178	2	PIK3C2G	12	18473914	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	6189139	18473914	115377981	116	13101											
RECQL	5965	broad.mit.edu	37	chr12	21626554	21626554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatacttcatcaaaatgttGagccatcaacacacgacgac	15	8	5	13	2	3	1	3	1	0	0	3	3	3	1	2	0	3	1	2	0	4	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:21626554G>C	ENST00000444129.2	-	12	1846	c.1378C>G	c.(1378-1380)Caa>Gaa	p.Q460E	RECQL_ENST00000421138.2_Missense_Mutation_p.Q460E	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	460					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TCAAAATGTTGAGCCATCAAC	0.323								Other identified genes with known or suspected DNA repair function					17	57					0	0	0	0	C	21626554	G	C	21626554	3	2	67	1	0	0	0	0	1	0	0	0	13283	1299	45	2	587	2	RECQL	12	21626554	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	3152640	21626554	112225341	117	13102											
RAP1B	5908	broad.mit.edu	37	chr12	69042539	69042539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctagtcgttcttggctcagGaggcgttggaaagtctgctt	6	13	14	8	2	3	0	1	0	2	0	4	2	3	2	0	4	1	5	0	4	2	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:69042539G>A	ENST00000250559.9	+	2	266	c.35G>A	c.(34-36)gGa>gAa	p.G12E	RAP1B_ENST00000393436.5_Missense_Mutation_p.G12E|RAP1B_ENST00000537460.1_Missense_Mutation_p.G12E|RAP1B_ENST00000543697.1_Missense_Mutation_p.G12E|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000542145.1_Missense_Mutation_p.G12E|RAP1B_ENST00000450214.2_Missense_Mutation_p.G12E|RAP1B_ENST00000540209.1_Missense_Mutation_p.G12E|RAP1B_ENST00000541216.1_Missense_Mutation_p.G12E|RAP1B_ENST00000539091.1_Missense_Mutation_p.G12E|RAP1B_ENST00000341355.5_Missense_Mutation_p.G12E|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000378985.3_Intron	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	12					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CTTGGCTCAGGAGGCGTTGGA	0.363													27	46					0	0	0	0	A	69042539	G	A	69042539	3	1	67	1	0	0	0	0	1	0	0	0	13118	1174	41	2	37	2	RAP1B	12	69042539	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	47415985	69042539	64809356	118	13103											
CPM	1368	broad.mit.edu	37	chr12	69250409	69250409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcactgaagttctgggatttCtccggaataatcacctttgt	9	14	9	9	1	3	1	1	1	2	0	4	3	3	3	2	2	0	2	2	2	3	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:69250409C>G	ENST00000551568.1	-	9	1200	c.1140G>C	c.(1138-1140)gaG>gaC	p.E380D	CPM_ENST00000546373.1_Missense_Mutation_p.E380D|CPM_ENST00000338356.3_Missense_Mutation_p.E380D	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	380					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCTGGGATTTCTCCGGAATAA	0.408													38	123					0	0	0	0	G	69250409	C	G	69250409	3	3	67	1	0	0	0	0	1	0	0	0	3838	912	32	2	195	2	CPM	12	69250409	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	207870	69250409	64601486	119	13104											
MYF6	4618	broad.mit.edu	37	chr12	81101864	81101864	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcggcgaactgtggcCaaccccaaccagaggctgcc	10	4	12	15	2	0	2	0	1	0	1	0	3	0	2	5	3	5	1	5	3	4	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:81101864C>T	ENST00000228641.3	+	1	588	c.366C>T	c.(364-366)gcC>gcT	p.A122A		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	122	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GAACTGTGGCCAACCCCAACC	0.617													15	103					0	0	0	0	T	81101864	C	T	81101864	2	4	67	1	0	0	0	0	0	0	0	1	10098	581	21	4		4	MYF6	12	81101864	Silent	SNP	C	TCGA-CN-4734-01A-01D-1434-08	11851455	81101864	52750031	120	13105											
TMTC3	160418	broad.mit.edu	37	chr12	88589182	88589182	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcccaaccagtaagatttCaagtgtggaaggaaagaaaa	18	8	9	6	0	1	2	1	0	0	2	2	4	2	4	2	2	1	1	2	2	7	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:88589182C>G	ENST00000266712.6	+	14	2721	c.2501C>G	c.(2500-2502)tCa>tGa	p.S834*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	835						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AGTAAGATTTCAAGTGTGGAA	0.338													97	120					0	0	0	0	G	88589182	C	G	88589182	4	3	67	1	0	0	0	0	0	1	0	0	16356	838	29	2	2551	2	TMTC3	12	88589182	Nonsense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	7487318	88589182	45262713	121	13106											
USP44	84101	broad.mit.edu	37	chr12	95927270	95927270	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaggagtcactgactttttGagatatttcattttctgagg	9	17	10	5	0	3	4	2	4	1	1	3	6	3	5	0	2	0	0	0	2	1	6			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:95927270G>A	ENST00000258499.3	-	2	1051	c.763C>T	c.(763-765)Caa>Taa	p.Q255*	USP44_ENST00000393091.2_Nonsense_Mutation_p.Q255*|USP44_ENST00000537435.2_Nonsense_Mutation_p.Q255*|USP44_ENST00000552440.1_Nonsense_Mutation_p.Q255*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	255					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTGACTTTTTGAGATATTTCA	0.388													32	206					0	0	0	0	A	95927270	G	A	95927270	4	1	67	1	0	0	0	0	0	1	0	0	17171	1299	45	2	1395	2	USP44	12	95927270	Nonsense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	7338088	95927270	37924625	122	13107											
ANO4	121601	broad.mit.edu	37	chr12	101477507	101477507	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccaagaaagagcggatgAatccaatttctggaaagcca	16	8	9	8	1	1	3	0	1	1	2	3	5	3	5	3	2	2	0	3	2	5	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:101477507A>G	ENST00000392979.3	+	15	1703	c.1342A>G	c.(1342-1344)Aat>Gat	p.N448D	ANO4_ENST00000299222.9_Intron|ANO4_ENST00000550015.1_Intron|ANO4_ENST00000392977.3_Missense_Mutation_p.N483D	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	483						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAGCGGATGAATCCAATTTC	0.383										HNSCC(74;0.22)			36	178					0	0	0	0	G	101477507	A	G	101477507	3	3	67	1	0	0	0	0	1	0	0	0	698	246	9	5	1396	5	ANO4	12	101477507	Missense_Mutation	SNP	A	TCGA-CN-4734-01A-01D-1434-08	5550237	101477507	32374388	123	13108											
SYCP3	50511	broad.mit.edu	37	chr12	102127427	102127427	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacaaagtcagaaactgctGagaatattcttggttaagct	16	11	8	6	0	2	2	1	1	1	2	2	3	2	2	0	1	4	3	0	1	6	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:102127427G>C	ENST00000392927.3	-	6	510	c.379C>G	c.(379-381)Cag>Gag	p.Q127E	SYCP3_ENST00000266743.2_Missense_Mutation_p.Q127E|SYCP3_ENST00000392924.1_Missense_Mutation_p.Q127E	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	127	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AGAAACTGCTGAGAATATTCT	0.303													57	79					0	0	0	0	C	102127427	G	C	102127427	3	2	67	1	0	0	0	0	1	0	0	0	15525	1299	45	2	347	2	SYCP3	12	102127427	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	649920	102127427	31724468	124	13109											
MED13L	23389	broad.mit.edu	37	chr12	116457051	116457051	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatagcctgttctggagaGgtgggaggggtcagaggcat	9	8	19	5	0	2	2	1	0	1	2	2	5	2	4	1	7	1	2	1	7	1	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:116457051G>A	ENST00000281928.3	-	7	1193	c.987C>T	c.(985-987)acC>acT	p.T329T		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	329					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTTCTGGAGAGGTGGGAGGGG	0.542													16	84					0	0	0	0	A	116457051	G	A	116457051	2	1	67	1	0	0	0	0	0	0	0	1	9500	987	35	4		4	MED13L	12	116457051	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	14329624	116457051	17394844	125	13110											
TUBA3C	7278	broad.mit.edu	37	chr13	19751261	19751261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattggtgatctcagccaCggacagctgctcgtggtagg	7	9	15	10	2	1	1	1	1	1	0	3	2	1	2	1	5	3	4	1	5	1	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr13:19751261C>T	ENST00000400113.3	-	4	966	c.862G>A	c.(862-864)Gtg>Atg	p.V288M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	288					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCTCAGCCACGGACAGCTGC	0.607													43	137					0	0	0	0	T	19751261	C	T	19751261	3	4	67	1	0	0	0	0	1	0	0	0	16842	536	19	1	498	1	TUBA3C	13	19751261	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08		19751261	95418617	126	13111											
EXOSC8	11340	broad.mit.edu	37	chr13	37578686	37578686	+	Frame_Shift_Del	DEL	A	A	-																															catcaacagatgcccctgatAaaggatacgttggtaagtta																										TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr13:37578686delA	ENST00000389704.3	+	5	491	c.226delA	c.(226-228)aafs	p.K76fs	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	76					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		TGCCCCTGATAAAGGATACGT	0.289													9	144	---	---	---	---					-	37578686	A	-	37578686	7	5	67	1	0	1	0	1	0	0	0	0	5358	363	13	0	244	0	EXOSC8	13	37578686	Frame_Shift_Del	DEL	A	TCGA-CN-4734-01A-01D-1434-08	17827425	37578686	77591192	127	13112											
TNFSF11	8600	broad.mit.edu	37	chr13	43180976	43180976	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggaaatcagcatcgaGgtctccaacccctccttact	11	8	9	13	1	2	1	1	0	1	1	5	4	3	2	4	3	3	1	4	3	3	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr13:43180976G>A	ENST00000398795.2	+	5	1025	c.657G>A	c.(655-657)gaG>gaA	p.E219E	TNFSF11_ENST00000239849.6_Silent_p.E292E|TNFSF11_ENST00000544862.1_Silent_p.E219E|TNFSF11_ENST00000358545.2_Silent_p.E219E|TNFSF11_ENST00000405262.2_Silent_p.E219E	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	292					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TCAGCATCGAGGTCTCCAACC	0.423													53	178					0	0	0	0	A	43180976	G	A	43180976	2	1	67	1	0	0	0	0	0	0	0	1	16396	991	35	4		4	TNFSF11	13	43180976	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	5602290	43180976	71988902	128	13113											
MYH7	4625	broad.mit.edu	37	chr14	23898464	23898464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattctgccccttggtgaCgtactcattgcccactttca	7	13	7	14	1	3	1	2	1	1	0	3	2	3	1	3	1	3	1	3	1	1	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:23898464C>T	ENST00000355349.3	-	13	1393	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	411	Myosin head-like.		V -> I (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		CCCTTGGTGACGTACTCATTG	0.567													145	91					0	0	0	0	T	23898464	C	T	23898464	3	4	67	1	0	0	0	0	1	0	0	0	10109	536	19	1	4688	1	MYH7	14	23898464	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08		23898464	83451076	129	13114											
FAM179B	23116	broad.mit.edu	37	chr14	45432126	45432126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgttctccggggtcaggggGaggcaggccagcttgaagag	8	6	18	9	2	2	2	1	1	1	1	3	3	2	3	2	6	1	3	2	6	1	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:45432126G>A	ENST00000361462.2	+	1	685	c.502G>A	c.(502-504)Gag>Aag	p.E168K	FAM179B_ENST00000382233.2_Missense_Mutation_p.E168K|FAM179B_ENST00000361577.3_Missense_Mutation_p.E168K			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	168							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGGTCAGGGGGAGGCAGGCCA	0.562													157	102					0	0	0	0	A	45432126	G	A	45432126	3	1	67	1	0	0	0	0	1	0	0	0	5547	1175	41	2	504	2	FAM179B	14	45432126	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	21533662	45432126	61917414	130	13115											
SGPP1	81537	broad.mit.edu	37	chr14	64153029	64153029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgattattagtacaaataCcatccctatgaggatccgca	13	12	6	10	1	1	2	0	2	1	0	3	3	3	3	3	1	2	2	3	1	6	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:64153029C>G	ENST00000247225.6	-	3	1214	c.1120G>C	c.(1120-1122)Gta>Cta	p.V374L		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	374						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AGTACAAATACCATCCCTATG	0.383													96	222					0	0	0	0	G	64153029	C	G	64153029	3	3	67	1	0	0	0	0	1	0	0	0	14306	507	18	4	209	4	SGPP1	14	64153029	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	18720903	64153029	43196511	131	13116											
HHIPL1	84439	broad.mit.edu	37	chr14	100119154	100119154	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgagtggatccgcatcagCgagttcagagtctccgagga	10	8	14	9	3	3	2	2	1	1	1	5	6	4	4	2	2	1	2	2	2	0	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:100119154C>T	ENST00000330710.5	+	2	947	c.849C>T	c.(847-849)agC>agT	p.S283S	HHIPL1_ENST00000357223.2_Silent_p.S283S	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	283					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCCGCATCAGCGAGTTCAGAG	0.617													18	53					0	0	0	0	T	100119154	C	T	100119154	2	4	67	1	0	0	0	0	0	0	0	1	7143	767	27	1		1	HHIPL1	14	100119154	Silent	SNP	C	TCGA-CN-4734-01A-01D-1434-08	35966125	100119154	7230386	132	13117											
DYNC1H1	1778	broad.mit.edu	37	chr14	102509076	102509076	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcagcattcccgtctcacgGatatgcaaggtaagtacctt	11	10	9	11	2	1	0	1	0	1	0	3	1	2	1	2	2	4	5	2	2	4	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:102509076G>A	ENST00000360184.4	+	69	12668	c.12504G>A	c.(12502-12504)cgG>cgA	p.R4168R	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4168	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCGTCTCACGGATATGCAAGG	0.577													47	45					0	0	0	0	A	102509076	G	A	102509076	2	1	67	1	0	0	0	0	0	0	0	1	4877	1161	41	2		2	DYNC1H1	14	102509076	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	2389922	102509076	4840464	133	13118											
TJP1	7082	broad.mit.edu	37	chr15	30018667	30018667	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccaaccatcattcattgaAtttaagttaattgtagctga	14	15	5	7	0	2	2	2	2	0	0	2	2	2	2	2	0	3	3	2	0	6	8			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr15:30018667A>G	ENST00000346128.6	-	18	2802	c.2328T>C	c.(2326-2328)aaT>aaC	p.N776N	TJP1_ENST00000545208.2_Silent_p.N776N|TJP1_ENST00000356107.6_Silent_p.N776N|TJP1_ENST00000400011.2_Silent_p.N780N	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	776	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CATTCATTGAATTTAAGTTAA	0.373													33	88					0	0	0	0	G	30018667	A	G	30018667	2	3	67	1	0	0	0	0	0	0	0	1	16023	98	4	5		5	TJP1	15	30018667	Silent	SNP	A	TCGA-CN-4734-01A-01D-1434-08		30018667	72512725	134	13119											
SLC28A2	9153	broad.mit.edu	37	chr15	45564978	45564978	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgctgcagagggctctttCagaggtgagcaccaggaccc	8	8	14	11	0	2	3	1	1	1	2	2	4	2	4	2	3	3	4	2	3	0	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr15:45564978C>G	ENST00000347644.3	+	17	1920	c.1855C>G	c.(1855-1857)Cag>Gag	p.Q619E	CTD-2651B20.3_ENST00000560344.1_RNA|SLC28A2_ENST00000560767.1_3'UTR|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	619					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	p.Q619E(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGGGCTCTTTCAGAGGTGAGC	0.522													22	51					0	0	0	0	G	45564978	C	G	45564978	3	3	67	1	0	0	0	0	1	0	0	0	14620	827	29	2	1917	2	SLC28A2	15	45564978	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	15546311	45564978	56966414	135	13120											
UNC13C	440279	broad.mit.edu	37	chr15	54305667	54305667	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaactgagaaaatggaaaaaGagtcaagaatgtgtctcctc	18	8	9	6	0	2	3	1	1	1	3	4	5	2	4	1	1	1	0	1	1	7	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr15:54305667G>C	ENST00000545554.1	+	1	567	c.567G>C	c.(565-567)aaG>aaC	p.K189N	UNC13C_ENST00000260323.11_Missense_Mutation_p.K189N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K189N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	189					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATGGAAAAAGAGTCAAGAAT	0.458													30	90					0	0	0	0	C	54305667	G	C	54305667	3	2	67	1	0	0	0	0	1	0	0	0	17082	933	33	2	569	2	UNC13C	15	54305667	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	8740689	54305667	48225725	136	13121											
IDH3A	3419	broad.mit.edu	37	chr15	78454629	78454629	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccgagggggcgagcaaGcgcattgctgagtttgcctt	8	9	14	10	3	1	1	1	1	0	0	1	3	1	1	2	2	4	4	2	2	1	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr15:78454629G>A	ENST00000299518.2	+	6	614	c.531G>A	c.(529-531)aaG>aaA	p.K177K	IDH3A_ENST00000441490.2_Silent_p.K68K|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Silent_p.K142K|IDH3A_ENST00000559205.1_Intron	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	177					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	GGGCGAGCAAGCGCATTGCTG	0.562													31	118					0	0	0	0	A	78454629	G	A	78454629	2	1	67	1	0	0	0	0	0	0	0	1	7549	962	34	4		4	IDH3A	15	78454629	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	24148962	78454629	24076763	137	13122											
KIF22	3835	broad.mit.edu	37	chr16	29811084	29811084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaatcggccttttaccaatGagagcctgcagcctcatggt	9	11	9	12	1	2	1	2	1	0	1	3	2	2	1	4	2	4	1	4	2	3	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:29811084G>A	ENST00000561482.1	+	7	1559	c.922G>A	c.(922-924)Gag>Aag	p.E308K	KIF22_ENST00000160827.4_Missense_Mutation_p.E376K|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.E308K|KIF22_ENST00000569382.2_Missense_Mutation_p.E308K|KIF22_ENST00000563263.1_3'UTR	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	376					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TTTTACCAATGAGAGCCTGCA	0.532													13	35					0	0	0	0	A	29811084	G	A	29811084	3	1	67	1	0	0	0	0	1	0	0	0	8341	1291	45	2	1152	2	KIF22	16	29811084	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08		29811084	60543669	138	13123											
ITGAD	3681	broad.mit.edu	37	chr16	31404708	31404708	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcggcactgtgcttcttctGagtggtaagtggggccaggg	5	12	16	8	1	2	1	0	1	2	0	3	1	2	1	1	5	1	3	1	5	1	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:31404708G>A	ENST00000389202.2	+	1	76	c.27G>A	c.(25-27)ctG>ctA	p.L9L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	9					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCTTCTTCTGAGTGGTAAGT	0.627													62	159					0	0	0	0	A	31404708	G	A	31404708	2	1	67	1	0	0	0	0	0	0	0	1	7937	1277	45	2		2	ITGAD	16	31404708	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	1593624	31404708	58950045	139	13124											
PHKB	5257	broad.mit.edu	37	chr16	47694703	47694703	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaatggaaggacaaaccCacccacgaaattcttcaaaa	18	6	7	10	1	2	1	1	1	1	0	2	4	2	3	2	2	1	0	2	2	6	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:47694703C>G	ENST00000455779.1	+	23	2333	c.2148C>G	c.(2146-2148)ccC>ccG	p.P716P	PHKB_ENST00000299167.8_Silent_p.P723P|PHKB_ENST00000566044.1_Silent_p.P716P|PHKB_ENST00000323584.5_Silent_p.P723P			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	723					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AGGACAAACCCACCCACGAAA	0.488													28	137					0	0	0	0	G	47694703	C	G	47694703	2	3	67	1	0	0	0	0	0	0	0	1	11917	581	21	4		4	PHKB	16	47694703	Silent	SNP	C	TCGA-CN-4734-01A-01D-1434-08	16289995	47694703	42660050	140	13125											
NUP93	9688	broad.mit.edu	37	chr16	56878443	56878443	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcccgcactctgattacCtttgctggaatgataccata	11	11	7	12	1	1	2	0	2	1	0	1	3	1	3	3	1	4	2	3	1	5	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:56878443C>G	ENST00000569842.1	+	23	2596	c.2500C>G	c.(2500-2502)Ctt>Gtt	p.L834V	NUP93_ENST00000564887.1_Silent_p.T671T|NUP93_ENST00000542526.1_Silent_p.T671T|NUP93_ENST00000308159.5_Silent_p.T794T			Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	0					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTCTGATTACCTTTGCTGGAA	0.498													27	38					0	0	0	0	G	56878443	C	G	56878443	3	3	67	1	0	0	0	0	1	0	0	0	10843	668	24	4	2464	4	NUP93	16	56878443	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	9183740	56878443	33476310	141	13126											
NFAT5	10725	broad.mit.edu	37	chr16	69681025	69681025	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttattctacctcagtcacCgacagcaaggctatgcaagt	12	11	7	11	1	3	0	2	0	1	0	3	1	3	0	2	1	3	3	2	1	5	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:69681025C>T	ENST00000349945.1	+	5	1618	c.66C>T	c.(64-66)acC>acT	p.T22T	NFAT5_ENST00000432919.1_Silent_p.T116T|NFAT5_ENST00000393742.2_Silent_p.T22T|NFAT5_ENST00000567239.1_Silent_p.T116T|NFAT5_ENST00000354436.2_Silent_p.T98T|NFAT5_ENST00000566899.1_Silent_p.T22T	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	98					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCTCAGTCACCGACAGCAAGG	0.532													96	302					0	0	0	0	T	69681025	C	T	69681025	2	4	67	1	0	0	0	0	0	0	0	1	10430	639	23	1		1	NFAT5	16	69681025	Silent	SNP	C	TCGA-CN-4734-01A-01D-1434-08	12802582	69681025	20673728	142	13127											
BCMO1	53630	broad.mit.edu	37	chr16	81295760	81295760	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctttctcctacttgtctCacaccatccccgatttcacc	7	13	4	17	1	3	0	2	0	2	0	6	2	4	0	5	0	2	1	5	0	1	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:81295760C>G	ENST00000258168.2	+	4	804	c.343C>G	c.(343-345)Cac>Gac	p.H115D	BCMO1_ENST00000564552.1_Missense_Mutation_p.H115D|BCMO1_ENST00000425577.2_Missense_Mutation_p.H46D	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	115					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CTACTTGTCTCACACCATCCC	0.468													67	176					0	0	0	0	G	81295760	C	G	81295760	3	3	67	1	0	0	0	0	1	0	0	0	1388	826	29	2	357	2	BCMO1	16	81295760	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	11614735	81295760	9058993	143	13128											
OSGIN1	29948	broad.mit.edu	37	chr16	83983085	83983085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaccgagaggctgctgcCggggaaatatgcagtgcaga	11	5	17	8	2	0	3	0	0	0	3	0	6	0	4	2	4	4	4	2	4	2	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:83983085C>T	ENST00000343939.2	+	1	414	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	OSGIN1_ENST00000361711.3_5'UTR|RP11-505K9.4_ENST00000561562.1_RNA			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	11					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						AGGCTGCTGCCGGGGAAATAT	0.582													42	84					0	0	0	0	T	83983085	C	T	83983085	3	4	67	1	0	0	0	0	1	0	0	0	11360	643	23	1	33	1	OSGIN1	16	83983085	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	2687325	83983085	6371668	144	13129											
FBXO31	79791	broad.mit.edu	37	chr16	87367628	87367628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcgccaccatcctcacCaggtgtcccatctgggccct	6	8	9	18	1	2	0	1	0	1	0	5	0	4	0	6	3	0	1	6	3	0	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:87367628C>T	ENST00000311635.7	-	8	1273	c.1261G>A	c.(1261-1263)Ggt>Agt	p.G421S	RP11-178L8.4_ENST00000568879.1_Silent_p.L84L	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	421					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCATCCTCACCAGGTGTCCCA	0.746													8	29					0	0	0	0	T	87367628	C	T	87367628	3	4	67	1	0	0	0	0	1	0	0	0	5786	594	21	4	366	4	FBXO31	16	87367628	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	3384543	87367628	2987125	145	13130											
RPA1	6117	broad.mit.edu	37	chr17	1747221	1747221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgtcctagaacatccGtcccattactacggggaata	10	13	7	11	2	1	1	0	0	1	1	4	2	4	2	3	2	3	0	3	2	6	6			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:1747221G>A	ENST00000254719.5	+	3	202	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	31					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TAGAACATCCGTCCCATTACT	0.488								Nucleotide excision repair (NER)					24	105					0	0	0	0	A	1747221	G	A	1747221	3	1	67	1	0	0	0	0	1	0	0	0	13621	1145	40	1	102	1	RPA1	17	1747221	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08		1747221	79447989	146	13131											
ITGAE	3682	broad.mit.edu	37	chr17	3658514	3658514	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtagagcaacgcccctccGgaccagtcaaaggccccgac	10	4	10	17	4	1	1	1	0	0	1	3	3	2	2	6	2	2	2	6	2	3	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:3658514G>T	ENST00000263087.4	-	12	1379	c.1281C>A	c.(1279-1281)tcC>tcA	p.S427S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	427					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACGCCCCTCCGGACCAGTCAA	0.721													3	2					0.004672	0.00477916	1	0	T	3658514	G	T	3658514	2	4	67	1	0	0	0	0	0	0	0	1	7938	1103	39	3		3	ITGAE	17	3658514	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	1911293	3658514	77536696	147	13132											
C17orf74	201243	broad.mit.edu	37	chr17	7329025	7329025	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccatggaaaaccagctatgGcataacaccgtgagatgttg	13	9	10	9	1	0	1	0	1	0	1	1	3	1	2	3	2	3	3	3	2	4	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:7329025G>A	ENST00000333870.3	+	1	92	c.18G>A	c.(16-18)tgG>tgA	p.W6*	C17orf74_ENST00000574034.1_Nonsense_Mutation_p.W6*|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	6						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACCAGCTATGGCATAACACCG	0.592													65	170					0	0	0	0	A	7329025	G	A	7329025	4	1	67	1	0	0	0	0	0	1	0	0	1895	1212	42	4	20	4	C17orf74	17	7329025	Nonsense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	3670511	7329025	73866185	148	13133											
MYH13	8735	broad.mit.edu	37	chr17	10219279	10219279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcaactgtgtctgttgctCgtccttggctttgatttcac	5	17	9	10	1	3	1	2	1	1	0	5	2	4	1	1	1	2	3	1	1	1	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:10219279C>T	ENST00000418404.3	-	27	3965	c.3802G>A	c.(3802-3804)Gag>Aag	p.E1268K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1268K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1268K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1268					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTCTGTTGCTCGTCCTTGGCT	0.463													48	156					0	0	0	0	T	10219279	C	T	10219279	3	4	67	1	0	0	0	0	1	0	0	0	10102	893	31	1	2070	1	MYH13	17	10219279	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	2890254	10219279	70975931	149	13134											
MYH13	8735	broad.mit.edu	37	chr17	10231210	10231210	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgcaattggaggtcattCttctcctgcaggagggagac	9	10	12	10	0	3	1	1	0	2	1	4	4	3	3	2	4	2	2	2	4	1	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:10231210C>G	ENST00000418404.3	-	21	2827	c.2664G>C	c.(2662-2664)aaG>aaC	p.K888N	MYH13_ENST00000252172.4_Missense_Mutation_p.K888N|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Missense_Mutation_p.K888N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	888					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGAGGTCATTCTTCTCCTGCA	0.527											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	75					0	0	0	0	G	10231210	C	G	10231210	3	3	67	1	0	0	0	0	1	0	0	0	10102	912	32	2	3232	2	MYH13	17	10231210	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	11931	10231210	70964000	150	13135											
MYH13	8735	broad.mit.edu	37	chr17	10231229	10231229	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcctgcaggagggagAccattttctcctccagctcc	6	12	8	15	0	3	1	0	0	3	1	7	3	5	2	5	2	2	2	5	2	0	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:10231229A>T	ENST00000418404.3	-	21	2808	c.2645T>A	c.(2644-2646)gTc>gAc	p.V882D	MYH13_ENST00000252172.4_Missense_Mutation_p.V882D|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Missense_Mutation_p.V882D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	882					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CAGGAGGGAGACCATTTTCTC	0.527											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	74					0	0	0	0	T	10231229	A	T	10231229	3	4	67	1	0	0	0	0	1	0	0	0	10102	275	10	5	3251	5	MYH13	17	10231229	Missense_Mutation	SNP	A	TCGA-CN-4734-01A-01D-1434-08	19	10231229	70963981	151	13136											
MYO15A	51168	broad.mit.edu	37	chr17	18022599	18022599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggacgcctggctgcagcGctcgagctcccgcatgggct	5	7	15	14	4	0	0	0	0	0	0	2	2	1	1	2	3	3	6	2	3	0	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:18022599G>A	ENST00000205890.5	+	2	823	c.485G>A	c.(484-486)cGc>cAc	p.R162H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	162	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCTGCAGCGCTCGAGCTCC	0.677													11	65					0	0	0	0	A	18022599	G	A	18022599	3	1	67	1	0	0	0	0	1	0	0	0	10133	1087	38	1	487	1	MYO15A	17	18022599	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	7791370	18022599	63172611	152	13137											
NOS2	4843	broad.mit.edu	37	chr17	26101285	26101285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaaggcccctaacctGatagtagtagaaaggggaca	16	5	13	7	0	0	3	0	1	0	2	0	5	0	5	3	4	1	2	3	4	7	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:26101285G>T	ENST00000313735.6	-	12	1707	c.1474C>A	c.(1474-1476)Cag>Aag	p.Q492K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	492					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCCCTAACCTGATAGTAGTAG	0.547													11	31					7.03913e-09	7.40436e-09	1	0	T	26101285	G	T	26101285	3	4	67	1	0	0	0	0	1	0	0	0	10613	1299	45	2	2051	2	NOS2	17	26101285	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	8078686	26101285	55093925	153	13138											
ABHD15	116236	broad.mit.edu	37	chr17	27889909	27889909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtccacacacggggtcGtcagcactgcagatacacag	10	5	14	12	2	1	1	1	0	0	1	3	1	2	1	1	4	3	2	1	4	1	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:27889909G>A	ENST00000307201.4	-	2	1247	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	359						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						ACACGGGGTCGTCAGCACTGC	0.602													12	101					0	0	0	0	A	27889909	G	A	27889909	2	1	67	1	0	0	0	0	0	0	0	1	81	1136	40	1		1	ABHD15	17	27889909	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	1788624	27889909	53305301	154	13139											
SSH2	85464	broad.mit.edu	37	chr17	27959836	27959836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtctcctttcagttgaatCtgcccaactccttgactgat	8	15	6	12	0	3	3	1	3	2	0	5	3	4	3	3	0	2	1	3	0	2	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:27959836C>G	ENST00000269033.3	-	15	2446	c.2295G>C	c.(2293-2295)caG>caC	p.Q765H	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.Q792H	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	765					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGTTGAATCTGCCCAACTC	0.468													36	63					0	0	0	0	G	27959836	C	G	27959836	3	3	67	1	0	0	0	0	1	0	0	0	15275	912	32	2	1980	2	SSH2	17	27959836	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	69927	27959836	53235374	155	13140											
KRT12	3859	broad.mit.edu	37	chr17	39019389	39019389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacccttgggcctccccGtccagcaggcggcggtaggt	4	7	14	16	3	1	0	1	0	0	0	3	0	3	0	5	5	1	3	5	5	1	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:39019389G>A	ENST00000251643.4	-	6	1325	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	434	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GGGCCTCCCCGTCCAGCAGGC	0.612													19	67					0	0	0	0	A	39019389	G	A	39019389	2	1	67	1	0	0	0	0	0	0	0	1	8501	1136	40	1		1	KRT12	17	39019389	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	11059553	39019389	42175821	156	13141											
CNTNAP1	8506	broad.mit.edu	37	chr17	40842782	40842782	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgagcgtggacagttgtgcgGcatgacaggctgtggacaac	9	7	16	9	3	0	1	0	1	0	0	0	4	0	3	0	4	3	3	0	4	1	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:40842782G>A	ENST00000264638.4	+	13	2098	c.1881G>A	c.(1879-1881)cgG>cgA	p.R627R	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	627	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CAGTTGTGCGGCATGACAGGC	0.587													4	209					0	0	0	0	A	40842782	G	A	40842782	2	1	67	1	0	0	0	0	0	0	0	1	3676	1190	42	4		4	CNTNAP1	17	40842782	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	1823393	40842782	40352428	157	13142											
HOXB4	3214	broad.mit.edu	37	chr17	46654222	46654222	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggttctggaaccagatcttGatctggcgctcggagaggca	8	9	14	10	3	3	3	0	1	3	2	4	5	3	4	1	5	1	3	1	5	1	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:46654222G>C	ENST00000332503.5	-	2	2409	c.618C>G	c.(616-618)atC>atG	p.I206M	HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	206						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						ACCAGATCTTGATCTGGCGCT	0.607													62	215					0	0	0	0	C	46654222	G	C	46654222	3	2	67	1	0	0	0	0	1	0	0	0	7353	1280	45	2	141	2	HOXB4	17	46654222	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	5811440	46654222	34540988	158	13143											
CARD14	79092	broad.mit.edu	37	chr17	78182030	78182030	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccgggcgccctgtctataCagcagcctggctcctgacgg	6	7	13	15	3	1	1	0	1	1	0	2	2	2	1	4	3	3	2	4	3	2	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:78182030C>T	ENST00000573882.1	+	23	3437	c.2901C>T	c.(2899-2901)taC>taT	p.Y967Y	CARD14_ENST00000344227.2_Silent_p.Y967Y			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	967	Guanylate kinase-like.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCTGTCTATACAGCAGCCTGG	0.672													2	2					0	0	0	0	T	78182030	C	T	78182030	2	4	67	1	0	0	0	0	0	0	0	1	2671	489	17	4		4	CARD14	17	78182030	Silent	SNP	C	TCGA-CN-4734-01A-01D-1434-08	31527808	78182030	3013180	159	13144											
ZNF521	25925	broad.mit.edu	37	chr18	22805215	22805215	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaggctgccccacaaatGtcgcagccgtacataggctc	9	8	11	13	2	0	0	0	0	0	0	2	0	0	0	3	2	3	5	3	2	4	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr18:22805215G>A	ENST00000361524.3	-	4	2815	c.2667C>T	c.(2665-2667)gaC>gaT	p.D889D	ZNF521_ENST00000538137.2_Silent_p.D889D|ZNF521_ENST00000584787.1_Silent_p.D669D	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	889					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCCCACAAATGTCGCAGCCGT	0.522			T	PAX5	ALL								27	67					0	0	0	0	A	22805215	G	A	22805215	2	1	67	1	0	0	0	0	0	0	0	1	18060	1368	48	4		4	ZNF521	18	22805215	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08		22805215	55272033	160	13145											
ASXL3	80816	broad.mit.edu	37	chr18	31319619	31319619	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagtttgccacttccttcaGaaacatctccaatttccaac	11	12	3	15	0	2	1	1	0	1	1	5	1	4	1	5	0	3	1	5	0	3	4			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr18:31319619G>C	ENST00000269197.5	+	11	2251	c.2251G>C	c.(2251-2253)Gaa>Caa	p.E751Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	751	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTTCCTTCAGAAACATCTCC	0.433													82	230					0	0	0	0	C	31319619	G	C	31319619	3	2	67	1	0	0	0	0	1	0	0	0	1072	943	33	2	2293	2	ASXL3	18	31319619	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	8514404	31319619	46757629	161	13146											
KIAA1468	57614	broad.mit.edu	37	chr18	59888730	59888730	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagatgaaaacgatgatcaGgtaaagttactttttgtttt	13	16	8	4	1	2	3	2	2	0	1	2	4	2	3	0	1	2	3	0	1	5	6			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr18:59888730G>A	ENST00000256858.6	+	5	1106	c.858_splice	c.e5+1	p.Q286_splice	KIAA1468_ENST00000398130.2_Splice_Site_p.Q286_splice			Q9P260	K1468_HUMAN	KIAA1468	286	LisH.						binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ACGATGATCAGGTAAAGTTAC	0.239													14	51					0	0	0	0	A	59888730	G	A	59888730	5	1	67	1	0	0	0	0	0	0	1	0	8287	1014	35	4	876	4	KIAA1468	18	59888730	Splice_Site	SNP	G	TCGA-CN-4734-01A-01D-1434-08	28569111	59888730	18188518	162	13147											
SALL3	27164	broad.mit.edu	37	chr18	76754267	76754267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctgcagcagcacatccGcatgcacatgggcggccaga	9	5	13	14	2	0	1	0	0	0	1	2	1	2	1	3	3	4	5	3	3	0	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr18:76754267G>A	ENST00000536229.3	+	1	2586	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	SALL3_ENST00000575389.2_Missense_Mutation_p.R759H|SALL3_ENST00000537592.2_Missense_Mutation_p.R759H			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	759					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAGCACATCCGCATGCACATG	0.657													13	45					0	0	0	0	A	76754267	G	A	76754267	3	1	67	1	0	0	0	0	1	0	0	0	13897	1087	38	1	2282	1	SALL3	18	76754267	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	16865537	76754267	1322981	163	13148											
CRB3	92359	broad.mit.edu	37	chr19	6466612	6466612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacctaccggcccagtagcGaggagcaggtgggtgcccgc	7	4	16	14	3	0	0	0	0	0	0	0	2	0	1	4	4	4	3	4	4	2	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:6466612G>A	ENST00000598494.1	+	4	823	c.292G>A	c.(292-294)Gag>Aag	p.E98K	CRB3_ENST00000308243.7_Missense_Mutation_p.E98K|CRB3_ENST00000356762.3_Missense_Mutation_p.E98K|CRB3_ENST00000600229.1_Missense_Mutation_p.E98K			Q9BUF7	CRUM3_HUMAN	crumbs homolog 3 (Drosophila)	98					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding			endometrium(1)|large_intestine(1)|lung(1)	3						GCCCAGTAGCGAGGAGCAGGT	0.677													21	80					0	0	0	0	A	6466612	G	A	6466612	3	1	67	1	0	0	0	0	1	0	0	0	3880	1059	37	1	302	1	CRB3	19	6466612	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08		6466612	52662371	164	13149											
OR7G1	125962	broad.mit.edu	37	chr19	9226035	9226035	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccagaaatggacattcatGaggactgtgtacctcagtgg	11	9	11	10	0	2	2	2	1	0	1	2	4	2	4	3	3	1	1	3	3	2	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:9226035G>A	ENST00000293614.1	-	1	404	c.405C>T	c.(403-405)ctC>ctT	p.L135L	OR7G1_ENST00000541538.1_Silent_p.L135L			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GGACATTCATGAGGACTGTGT	0.493													28	98					0	0	0	0	A	9226035	G	A	9226035	2	1	67	1	0	0	0	0	0	0	0	1	11293	1277	45	2		2	OR7G1	19	9226035	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	2759423	9226035	49902948	165	13150											
OR10H1	26539	broad.mit.edu	37	chr19	15918182	15918182	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcttcaagatggcggccacGatgaaggcataggagaggag	13	6	15	7	2	2	3	1	1	1	2	2	6	2	4	1	5	0	1	1	5	3	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:15918182G>A	ENST00000334920.2	-	1	754	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TGGCGGCCACGATGAAGGCAT	0.577													18	101					0	0	0	0	A	15918182	G	A	15918182	2	1	67	1	0	0	0	0	0	0	0	1	10976	1048	37	1		1	OR10H1	19	15918182	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	6692147	15918182	43210801	166	13151											
MAST3	23031	broad.mit.edu	37	chr19	18254654	18254654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcccagcccatctctcctGaataccatcagcctggacac	9	8	7	17	0	2	1	1	1	1	0	5	2	4	2	5	2	3	0	5	2	2	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:18254654G>A	ENST00000262811.5	+	21	2334	c.2334G>A	c.(2332-2334)ctG>ctA	p.L778L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	778							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CATCTCTCCTGAATACCATCA	0.607													10	26					0	0	0	0	A	18254654	G	A	18254654	2	1	67	1	0	0	0	0	0	0	0	1	9395	1277	45	2		2	MAST3	19	18254654	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	2336472	18254654	40874329	167	13152											
TMEM161A	54929	broad.mit.edu	37	chr19	19230817	19230817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggcagccgtccaccagatGaggtaggccaggacgccacg	10	3	14	14	3	0	2	0	1	0	1	1	3	1	3	5	4	1	2	5	4	1	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:19230817G>A	ENST00000450333.2	-	10	1090	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L	TMEM161A_ENST00000162044.9_Silent_p.L454L|TMEM161A_ENST00000587583.2_Silent_p.L429L	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	454					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			TCCACCAGATGAGGTAGGCCA	0.662													4	7					0	0	0	0	A	19230817	G	A	19230817	2	1	67	1	0	0	0	0	0	0	0	1	16170	1277	45	2		2	TMEM161A	19	19230817	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	976163	19230817	39898166	168	13153											
FCGBP	8857	broad.mit.edu	37	chr19	40392591	40392591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggatacagccctcgctcCccggcgggcaggtgggcggc	4	5	18	14	4	0	0	0	0	0	0	2	1	1	1	3	7	2	2	3	7	1	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:40392591C>T	ENST00000221347.6	-	16	7920	c.7913G>A	c.(7912-7914)gGg>gAg	p.G2638E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2638	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCCTCGCTCCCCGGCGGGCA	0.667													19	66					0	0	0	0	T	40392591	C	T	40392591	3	4	67	1	0	0	0	0	1	0	0	0	5823	623	22	4	8388	4	FCGBP	19	40392591	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	21161774	40392591	18736392	169	13154											
PSG11	5680	broad.mit.edu	37	chr19	43530465	43530465	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagttctctcctcacctgtGagcaggagccccttccattt	7	12	8	14	0	2	1	1	1	1	0	5	3	4	2	5	1	2	2	5	1	1	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:43530465G>C	ENST00000401740.1	-	1	163	c.60C>G	c.(58-60)ctC>ctG	p.L20L	PSG11_ENST00000403486.1_Silent_p.L20L|PSG11_ENST00000320078.7_Silent_p.L20L|PSG11_ENST00000306322.7_Silent_p.L20L			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	20					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCTCACCTGTGAGCAGGAGCC	0.562													46	204					0	0	0	0	C	43530465	G	C	43530465	2	2	67	1	0	0	0	0	0	0	0	1	12733	1277	45	2		2	PSG11	19	43530465	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	3137874	43530465	15598518	170	13155											
ZNF283	284349	broad.mit.edu	37	chr19	44341279	44341279	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcctggaccctgctcagagGgacttgtacgtggatgtaat	8	11	13	9	1	1	1	1	0	0	1	1	4	1	4	2	3	3	3	2	3	2	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:44341279G>A	ENST00000324461.7	+	6	582	c.285G>A	c.(283-285)agG>agA	p.R95R	ZNF283_ENST00000310738.8_Silent_p.R59R|ZNF283_ENST00000593268.1_Silent_p.R95R|ZNF283_ENST00000593164.1_Silent_p.R70R|ZNF283_ENST00000588797.1_Intron|ZNF283_ENST00000586976.1_3'UTR|ZNF283_ENST00000590950.1_Silent_p.R70R	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	95	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CTGCTCAGAGGGACTTGTACG	0.463													39	86					0	0	0	0	A	44341279	G	A	44341279	2	1	67	1	0	0	0	0	0	0	0	1	17915	1223	43	4		4	ZNF283	19	44341279	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08	810814	44341279	14787704	171	13156											
PPP5C	5536	broad.mit.edu	37	chr19	46891915	46891915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actatatcatccgcagccacGaagtcaaggccgagggctac	12	6	10	13	3	2	0	2	0	0	0	3	2	3	0	3	2	2	2	3	2	5	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:46891915G>A	ENST00000012443.4	+	11	1385	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	PPP5C_ENST00000391919.1_Missense_Mutation_p.E300K	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	428	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CCGCAGCCACGAAGTCAAGGC	0.597													48	160					0	0	0	0	A	46891915	G	A	46891915	3	1	67	1	0	0	0	0	1	0	0	0	12482	1059	37	1	1324	1	PPP5C	19	46891915	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	2550636	46891915	12237068	172	13157											
PLEKHA4	57664	broad.mit.edu	37	chr19	49368815	49368815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgggatccctcctgagcGcattgcctctcttcccaaag	6	11	10	14	1	1	1	0	1	1	0	5	2	4	2	4	2	2	2	4	2	1	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:49368815G>A	ENST00000263265.6	-	3	692	c.137C>T	c.(136-138)gCg>gTg	p.A46V	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.A46V	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	46						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCTCCTGAGCGCATTGCCTCT	0.572													14	53					0	0	0	0	A	49368815	G	A	49368815	3	1	67	1	0	0	0	0	1	0	0	0	12130	1087	38	1	2274	1	PLEKHA4	19	49368815	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	2476900	49368815	9760168	173	13158											
LILRA4	23547	broad.mit.edu	37	chr19	54849916	54849916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaggtgatcacgggacCtggctcggcccacaggatgg	8	6	15	12	2	1	1	1	1	0	0	2	3	1	3	3	6	1	1	3	6	0	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:54849916C>T	ENST00000291759.4	-	3	162	c.106G>A	c.(106-108)Ggt>Agt	p.G36S		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	36	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		ATCACGGGACCTGGCTCGGCC	0.572											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	37	93					0	0	0	0	T	54849916	C	T	54849916	3	4	67	1	0	0	0	0	1	0	0	0	8841	681	24	4	1417	4	LILRA4	19	54849916	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	5481101	54849916	4279067	174	13159											
SLC23A2	9962	broad.mit.edu	37	chr20	4850573	4850573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtttattgcgtggatggggGggggtggggcacaggacagc	6	9	21	5	1	0	0	0	0	0	0	0	2	0	2	0	8	2	2	0	8	1	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr20:4850573G>T	ENST00000379333.1	-	12	1621	c.1229C>A	c.(1228-1230)cCc>cAc	p.P410H	SLC23A2_ENST00000424750.2_Missense_Mutation_p.P296H|SLC23A2_ENST00000338244.1_Missense_Mutation_p.P410H|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	410					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTGGATGGGGGGGGGTGGGGC	0.542													36	75					6.90743e-12	7.47746e-12	1	0	T	4850573	G	T	4850573	3	4	67	1	0	0	0	0	1	0	0	0	14551	1232	43	4	747	4	SLC23A2	20	4850573	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08		4850573	58174947	175	13160											
TUBB1	81027	broad.mit.edu	37	chr20	57599074	57599074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgattgagaatgcagatGcctgtttctgcattgacaat	11	13	10	7	0	1	4	0	3	1	2	1	5	1	4	1	0	4	4	1	0	2	3	rs147034202	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr20:57599074G>T	ENST00000217133.1	+	4	861	c.592G>T	c.(592-594)Gcc>Tcc	p.A198S		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	198					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GAATGCAGATGCCTGTTTCTG	0.527													5	220					0.014758	0.0149592	1	0	T	57599074	G	T	57599074	3	4	67	1	0	0	0	0	1	0	0	0	16849	1319	46	4	606	4	TUBB1	20	57599074	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	52748501	57599074	5426446	176	13161											
TPTE	7179	broad.mit.edu	37	chr21	10951321	10951321	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaaataaggcaatagctaGagaaatagaacgatactcca	22	6	7	6	1	0	2	0	0	0	2	1	4	1	2	1	1	3	2	1	1	11	5			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr21:10951321G>A	ENST00000298232.7	-	9	704	c.337C>T	c.(337-339)Cta>Tta	p.L113L	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.L131L|TPTE_ENST00000342420.5_Silent_p.L93L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	131					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAATAGCTAGAGAAATAGAA	0.343													24	80					0	0	0	0	A	10951321	G	A	10951321	2	1	67	1	0	0	0	0	0	0	0	1	16525	933	33	2		2	TPTE	21	10951321	Silent	SNP	G	TCGA-CN-4734-01A-01D-1434-08		10951321	37178574	177	13162											
CBR3	874	broad.mit.edu	37	chr21	37507579	37507579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaactgtgccgacagttctCtggggatgtggtgctcaccg	6	10	14	11	3	2	0	1	0	1	0	3	3	2	1	2	3	3	2	2	3	1	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr21:37507579C>T	ENST00000290354.5	+	1	370	c.89C>T	c.(88-90)tCt>tTt	p.S30F	CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	30						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						CGACAGTTCTCTGGGGATGTG	0.726													3	13					0	0	0	0	T	37507579	C	T	37507579	3	4	67	1	0	0	0	0	1	0	0	0	2734	913	32	2	91	2	CBR3	21	37507579	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	26556258	37507579	10622316	178	13163											
PCBP3	54039	broad.mit.edu	37	chr21	47350746	47350746	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagctcaaaatctgatGggccagtcatcaggtaacac	15	7	10	9	0	4	2	3	1	1	1	4	3	4	2	1	2	2	2	1	2	5	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr21:47350746G>C	ENST00000400314.1	+	13	1181	c.843G>C	c.(841-843)atG>atC	p.M281I	PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000449640.1_Missense_Mutation_p.M281I|PCBP3_ENST00000400304.1_Missense_Mutation_p.M271I|PCBP3_ENST00000400308.1_Missense_Mutation_p.M255I|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400309.1_Missense_Mutation_p.M280I			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	281					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		aaaatctgatgggccagtcat	0.547													17	38					0	0	0	0	C	47350746	G	C	47350746	3	2	67	1	0	0	0	0	1	0	0	0	11573	1348	47	4	885	4	PCBP3	21	47350746	Missense_Mutation	SNP	G	TCGA-CN-4734-01A-01D-1434-08	9843167	47350746	779149	179	13164											
DIP2A	23181	broad.mit.edu	37	chr21	47969758	47969758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagcagcggccggatgcctCggaggaggacagcttccagt	8	6	16	11	3	0	1	0	1	0	0	2	5	1	5	3	5	4	2	3	5	0	1			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr21:47969758C>T	ENST00000318711.7	+	22	2783	c.2600C>T	c.(2599-2601)tCg>tTg	p.S867L	DIP2A_ENST00000427143.2_Missense_Mutation_p.S802L|DIP2A_ENST00000457905.3_Missense_Mutation_p.S866L|DIP2A_ENST00000417564.2_Missense_Mutation_p.S866L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S862L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	866					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCGGATGCCTCGGAGGAGGAC	0.642													37	118					0	0	0	0	T	47969758	C	T	47969758	3	4	67	1	0	0	0	0	1	0	0	0	4564	893	31	1	2732	1	DIP2A	21	47969758	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	619012	47969758	160137	180	13165											
SEC14L2	23541	broad.mit.edu	37	chr22	30812008	30812008	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacagcagtatgaacacagCgtgcagatttcccgtggctc	12	8	10	11	2	0	2	0	1	0	1	2	2	1	2	1	1	5	4	1	1	3	2			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr22:30812008C>T	ENST00000312932.9	+	10	1103	c.843C>T	c.(841-843)agC>agT	p.S281S	SEC14L2_ENST00000403484.1_Silent_p.S207S|SEC14L2_ENST00000405717.3_Silent_p.S281S|RP4-539M6.19_ENST00000439838.1_Silent_p.S115S|SEC14L2_ENST00000402592.3_Silent_p.S198S	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	281	GOLD.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	ATGAACACAGCGTGCAGATTT	0.557													30	110					0	0	0	0	T	30812008	C	T	30812008	2	4	67	1	0	0	0	0	0	0	0	1	14069	767	27	1		1	SEC14L2	22	30812008	Silent	SNP	C	TCGA-CN-4734-01A-01D-1434-08		30812008	20492558	181	13166											
CACNG2	10369	broad.mit.edu	37	chr22	36960638	36960638	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggagtgtgagggctcCgtggagcgcgagctggagcg	5	7	19	10	4	0	1	0	1	0	0	2	5	2	4	2	4	3	2	2	4	0	0			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr22:36960638C>A	ENST00000300105.6	-	4	1713	c.732G>T	c.(730-732)acG>acT	p.T244T		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	244					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GTGAGGGCTCCGTGGAGCGCG	0.697													35	101					9.84934e-19	1.08733e-18	1	0	A	36960638	C	A	36960638	2	1	67	1	0	0	0	0	0	0	0	1	2582	639	23	3		3	CACNG2	22	36960638	Silent	SNP	C	TCGA-CN-4734-01A-01D-1434-08	6148630	36960638	14343928	182	13167											
CNKSR2	22866	broad.mit.edu	37	chrX	21627677	21627678	+	In_Frame_Ins	INS	-	-	GAG																															aacccccagaggtggaggaaINSgaggaggaggaggaggagga																										TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chrX:21627677_21627678insGAG	ENST00000425654.2	+	19	3024_3025	c.2544_2545insGAG	c.(2542-2547)gaagga>gaGAGagga	p.848_849EG>ERG	CNKSR2_ENST00000543067.1_In_Frame_Ins_p.829_830EG>ERG|CNKSR2_ENST00000379510.3_In_Frame_Ins_p.878_879EG>ERG|CNKSR2_ENST00000279451.4_In_Frame_Ins_p.878_879EG>ERG	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	878					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						aggtggaggaagaggaggagga	0.515													12	28	---	---	---	---					GAG	21627678	-	GAG	21627677	7	5	67	1	0	1	1	0	0	0	0	0	3637	69	3	0	2712	0	CNKSR2	23	21627677	In_Frame_Ins	INS	-	TCGA-CN-4734-01A-01D-1434-08		21627677	133642883	183	13168											
BCOR	54880	broad.mit.edu	37	chrX	39930340	39930340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggctgaatttgcacatctCggagtctttggttgctgggt	5	15	14	7	1	2	1	0	1	2	0	3	2	2	2	0	4	2	4	0	4	1	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chrX:39930340C>T	ENST00000342274.4	-	6	3486	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K	BCOR_ENST00000397354.3_Missense_Mutation_p.E1042K|BCOR_ENST00000378444.4_Missense_Mutation_p.E1042K|BCOR_ENST00000378455.4_Missense_Mutation_p.E1024K	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1042					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTGCACATCTCGGAGTCTTTG	0.488			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						34	28					0	0	0	0	T	39930340	C	T	39930340	3	4	67	1	0	0	0	0	1	0	0	0	1390	893	31	1	2183	1	BCOR	23	39930340	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	18302663	39930340	115340220	184	13169											
KLHL13	90293	broad.mit.edu	37	chrX	117033238	117033238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatgacatagagcctttctCccactgtacacatgcaatgc	12	10	6	13	0	1	2	0	1	1	1	2	2	1	2	2	0	4	2	2	0	4	3			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chrX:117033238C>A	ENST00000371876.1	-	6	3869	c.1448G>T	c.(1447-1449)gGa>gTa	p.G483V	KLHL13_ENST00000539496.1_Missense_Mutation_p.G537V|KLHL13_ENST00000469946.1_Missense_Mutation_p.G483V|KLHL13_ENST00000262820.3_Missense_Mutation_p.G534V|KLHL13_ENST00000545703.1_Missense_Mutation_p.G492V|KLHL13_ENST00000371878.1_Missense_Mutation_p.G483V|KLHL13_ENST00000371882.1_Missense_Mutation_p.G483V|KLHL13_ENST00000541812.1_Missense_Mutation_p.G518V|KLHL13_ENST00000540167.1_Missense_Mutation_p.G518V			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	534					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GAGCCTTTCTCCCACTGTACA	0.458													175	184					1.12187e-70	1.28296e-70	1	0	A	117033238	C	A	117033238	3	1	67	1	0	0	0	0	1	0	0	0	8421	855	30	2	370	2	KLHL13	23	117033238	Missense_Mutation	SNP	C	TCGA-CN-4734-01A-01D-1434-08	77102898	117033238	38237322	185	13170											
RERE	473	broad.mit.edu	37	chr1	8421855	8421855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcttggagctggtcctgtCagcctcctccgtatcagagg	5	12	11	13	1	3	1	2	0	1	1	6	2	6	2	4	3	2	2	4	3	1	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:8421855C>T	ENST00000337907.3	-	18	2618	c.1984G>A	c.(1984-1986)Gac>Aac	p.D662N	RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.D662N|RERE_ENST00000377464.1_Missense_Mutation_p.D394N|RERE_ENST00000476556.1_Missense_Mutation_p.D108N	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	662					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTGGTCCTGTCAGCCTCCTCC	0.552													47	107					0	0	0	0	T	8421855	C	T	8421855	3	4	68	1	0	0	0	0	1	0	0	0	13313	826	29	2	2744	2	RERE	1	8421855	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08		8421855	240828766	1	13171											
SLC2A5	6518	broad.mit.edu	37	chr1	9101976	9101976	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagctcccctaagtacatggGgaccacgttggaagatacac	12	7	10	12	1	0	1	0	0	0	1	1	3	1	3	3	3	3	3	3	3	4	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:9101976G>C	ENST00000377424.4	-	5	618	c.439C>G	c.(439-441)Ccc>Gcc	p.P147A	SLC2A5_ENST00000535586.1_Missense_Mutation_p.P32A|SLC2A5_ENST00000377414.3_Missense_Mutation_p.P147A|SLC2A5_ENST00000536305.1_Missense_Mutation_p.P88A	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	147					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTACATGGGGACCACGTTG	0.512													12	39					0	0	0	0	C	9101976	G	C	9101976	3	2	68	1	0	0	0	0	1	0	0	0	14636	1232	43	4	1262	4	SLC2A5	1	9101976	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	680121	9101976	240148645	2	13172											
NBPF3	84224	broad.mit.edu	37	chr1	21808093	21808093	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctacttttccaggctCagcagagagctgccggaggt	7	13	11	10	1	2	1	1	0	1	1	3	3	3	2	2	3	4	3	2	3	1	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:21808093C>A	ENST00000318220.6	+	16	2317	c.1269C>A	c.(1267-1269)ctC>ctA	p.L423L	NBPF3_ENST00000454000.2_Silent_p.L409L|NBPF3_ENST00000342104.5_Silent_p.L467L|NBPF3_ENST00000318249.5_Silent_p.L479L			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	479	NBPF 3.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTTCCAGGCTCAGCAGAGAGC	0.458													44	106					1.02591e-13	1.13441e-13	1	0	A	21808093	C	A	21808093	2	1	68	1	0	0	0	0	0	0	0	1	10267	813	29	2		2	NBPF3	1	21808093	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08	12706117	21808093	227442528	3	13173											
CELA3B	23436	broad.mit.edu	37	chr1	22313044	22313044	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgactctggaggacccctCaactgccccacagaggatgg	9	6	13	13	0	2	2	1	1	1	1	2	5	2	5	4	5	2	0	4	5	1	0			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:22313044C>T	ENST00000337107.6	+	7	682	c.663C>T	c.(661-663)ctC>ctT	p.L221L	CELA3B_ENST00000473526.1_3'UTR	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	221	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GAGGACCCCTCAACTGCCCCA	0.572													7	96					0	0	0	0	T	22313044	C	T	22313044	2	4	68	1	0	0	0	0	0	0	0	1	3243	813	29	2		2	CELA3B	1	22313044	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08	504951	22313044	226937577	4	13174											
ZNF436	80818	broad.mit.edu	37	chr1	23688794	23688794	+	Missense_Mutation	SNP	G	G	A																															acaagcattgcattcatatgGcttctctccagtgtgagttc																										TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:23688794G>A	ENST00000314011.4	-	4	1217	c.1081C>T	c.(1081-1083)Cca>Tca	p.P361S	ZNF436_ENST00000374608.3_Missense_Mutation_p.P361S|ZNF436_ENST00000374609.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CATTCATATGGCTTCTCTCCA	0.478													121	154					0	0	0	0	A	23688794	G	A	23688794	3	1	68	1	0	0	0	0	1	0	0	0	18004	1203	42	4	335	4	ZNF436	1	23688794	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	1375750	23688794	225561827	5	13175	114	2									
ZNF436	80818	broad.mit.edu	37	chr1	23688795	23688795	+	Missense_Mutation	SNP	C	C	A																															caagcattgcattcatatggCttctctccagtgtgagttct																										TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:23688795C>A	ENST00000314011.4	-	4	1216	c.1080G>T	c.(1078-1080)aaG>aaT	p.K360N	ZNF436_ENST00000374608.3_Missense_Mutation_p.K360N|ZNF436_ENST00000374609.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ATTCATATGGCTTCTCTCCAG	0.483													121	155					1.77382e-44	2.14725e-44	1	0	A	23688795	C	A	23688795	3	1	68	1	0	0	0	0	1	0	0	0	18004	796	28	4	336	4	ZNF436	1	23688795	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	1	23688795	225561826	6	13176	114	2									
NIPAL3	57185	broad.mit.edu	37	chr1	24766687	24766687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgattggcgccctcttggCgatcttcgggcacctcgtgg	3	11	13	14	4	2	1	0	1	2	0	4	2	2	1	3	4	0	1	3	4	0	3	rs143586098		TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:24766687C>T	ENST00000358028.4	+	3	468	c.119C>T	c.(118-120)gCg>gTg	p.A40V	NIPAL3_ENST00000374399.4_Missense_Mutation_p.A40V|NIPAL3_ENST00000339255.2_Missense_Mutation_p.A40V|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000428131.1_Missense_Mutation_p.A40V			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	40						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GCCCTCTTGGCGATCTTCGGG	0.537													41	108					0	0	0	0	T	24766687	C	T	24766687	3	4	68	1	0	0	0	0	1	0	0	0	10496	768	27	1	125	1	NIPAL3	1	24766687	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	1077892	24766687	224483934	7	13177											
PPIE	10450	broad.mit.edu	37	chr1	40214724	40214724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatctatgggaagaagttcGatgatgaaaactttatcctc	13	12	8	8	1	1	3	0	2	1	1	4	5	2	4	2	1	1	1	2	1	6	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:40214724G>A	ENST00000324379.5	+	8	677	c.658G>A	c.(658-660)Gat>Aat	p.D220N	PPIE_ENST00000356511.2_Missense_Mutation_p.D220N|PPIE_ENST00000372830.1_Missense_Mutation_p.D220N|PPIE_ENST00000470213.1_Silent_p.S178S	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	220	PPIase cyclophilin-type.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAAGAAGTTCGATGATGAAAA	0.552													51	94					0	0	0	0	A	40214724	G	A	40214724	3	1	68	1	0	0	0	0	1	0	0	0	12398	1058	37	1	688	1	PPIE	1	40214724	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	15448037	40214724	209035897	8	13178											
PTPRF	5792	broad.mit.edu	37	chr1	44069435	44069435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccaacaccatagatttcgGcaaggatgaccagcacttca	13	7	8	13	1	1	2	1	1	0	1	2	3	1	3	3	2	2	2	3	2	3	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:44069435G>A	ENST00000359947.4	+	16	2952	c.2612G>A	c.(2611-2613)gGc>gAc	p.G871D	PTPRF_ENST00000372413.3_Missense_Mutation_p.G862D|PTPRF_ENST00000372414.3_Missense_Mutation_p.G871D|PTPRF_ENST00000422171.2_Missense_Mutation_p.G219D|PTPRF_ENST00000438120.1_Missense_Mutation_p.G862D|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	871	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATAGATTTCGGCAAGGATGAC	0.637													35	85					0	0	0	0	A	44069435	G	A	44069435	3	1	68	1	0	0	0	0	1	0	0	0	12883	1203	42	4	2666	4	PTPRF	1	44069435	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	3854711	44069435	205181186	9	13179											
MAST2	23139	broad.mit.edu	37	chr1	46500768	46500768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagcctgctccctcacGggccctaggcaccctccggc	4	6	11	20	2	1	0	1	0	0	0	3	0	3	0	5	3	3	4	5	3	1	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:46500768G>T	ENST00000361297.2	+	29	4710	c.4427G>T	c.(4426-4428)cGg>cTg	p.R1476L	MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Missense_Mutation_p.R1286L	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1476					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCTCCCTCACGGGCCCTAGGC	0.662													21	40					5.26018e-13	5.73384e-13	1	0	T	46500768	G	T	46500768	3	4	68	1	0	0	0	0	1	0	0	0	9394	1116	39	3	4541	3	MAST2	1	46500768	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	2431333	46500768	202749853	10	13180											
MYSM1	114803	broad.mit.edu	37	chr1	59147716	59147716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaggcaactgcctggcatCaactattattccccttccat	11	11	6	13	0	1	1	1	0	0	1	3	1	3	1	4	2	3	2	4	2	5	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:59147716C>T	ENST00000472487.1	-	8	1039	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	334					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TGCCTGGCATCAACTATTATT	0.348													79	174					0	0	0	0	T	59147716	C	T	59147716	3	4	68	1	0	0	0	0	1	0	0	0	10171	826	29	2	1538	2	MYSM1	1	59147716	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	12646948	59147716	190102905	11	13181											
CACHD1	57685	broad.mit.edu	37	chr1	65117854	65117854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taacccataggtttgataatGactgtgagtaaaccctgtta	13	13	8	7	0	0	3	0	3	0	0	0	3	0	3	2	1	2	3	2	1	6	6			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:65117854G>A	ENST00000371073.2	+	10	1401	c.1401G>A	c.(1399-1401)atG>atA	p.M467I	CACHD1_ENST00000290039.5_Missense_Mutation_p.M416I|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	467	Cache 1.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTTTGATAATGACTGTGAGTA	0.403													49	113					0	0	0	0	A	65117854	G	A	65117854	3	1	68	1	0	0	0	0	1	0	0	0	2562	1290	45	2	1286	2	CACHD1	1	65117854	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	5970138	65117854	184132767	12	13182											
GADD45A	1647	broad.mit.edu	37	chr1	68153400	68153400	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtcaacttatttgtttttgCcgggaaagtcgctacatgga	10	14	10	7	2	1	0	1	0	0	0	2	2	1	2	1	2	3	2	1	2	4	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:68153400C>T	ENST00000370986.4	+	4	875	c.441C>T	c.(439-441)tgC>tgT	p.C147C	GADD45A_ENST00000370985.3_Silent_p.C113C	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha	147					apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding			lung(2)|ovary(2)	4						TTTGTTTTTGCCGGGAAAGTC	0.358													4	239					0	0	0	0	T	68153400	C	T	68153400	2	4	68	1	0	0	0	0	0	0	0	1	6229	747	26	4		4	GADD45A	1	68153400	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08	3035546	68153400	181097221	13	13183											
CLCA2	9635	broad.mit.edu	37	chr1	86919091	86919091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaaggaaatcagtaggcaGaaatgaggaggagcgaaagt	17	5	14	5	1	1	2	1	1	0	1	2	6	2	5	1	4	1	2	1	4	5	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:86919091G>A	ENST00000370565.4	+	13	2357	c.2195G>A	c.(2194-2196)aGa>aAa	p.R732K	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	732					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCAGTAGGCAGAAATGAGGAG	0.453													4	108					0	0	0	0	A	86919091	G	A	86919091	3	1	68	1	0	0	0	0	1	0	0	0	3488	942	33	2	2245	2	CLCA2	1	86919091	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	18765691	86919091	162331530	14	13184											
LRRC8B	23507	broad.mit.edu	37	chr1	90049934	90049934	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataatgagggaagcaaactGgttgtgttgaacaacttgaa	15	10	12	4	0	0	3	0	3	0	0	0	5	0	4	0	2	4	3	0	2	6	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:90049934G>T	ENST00000330947.2	+	5	2085	c.1725G>T	c.(1723-1725)ctG>ctT	p.L575L	LRRC8B_ENST00000358200.4_Silent_p.L575L|LRRC8B_ENST00000439853.1_Silent_p.L575L|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	575						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GAAGCAAACTGGTTGTGTTGA	0.463													4	94					0.00909568	0.00946609	1	0	T	90049934	G	T	90049934	2	4	68	1	0	0	0	0	0	0	0	1	9086	1335	47	4		4	LRRC8B	1	90049934	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08	3130843	90049934	159200687	15	13185											
SARS	6301	broad.mit.edu	37	chr1	109778722	109778722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccacattgtgaatattGtctcaggtatgggacccagc	10	12	9	10	0	1	1	1	1	1	0	2	2	1	2	2	2	2	1	2	2	4	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:109778722G>T	ENST00000369923.4	+	8	1104	c.1093G>T	c.(1093-1095)Gtc>Ttc	p.V365F	SARS_ENST00000234677.2_Missense_Mutation_p.V365F			P49591	SYSC_HUMAN	seryl-tRNA synthetase	365					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TGTGAATATTGTCTCAGGTAT	0.507													63	84					1.42676e-28	1.67426e-28	1	0	T	109778722	G	T	109778722	3	4	68	1	0	0	0	0	1	0	0	0	13930	1377	48	4	1123	4	SARS	1	109778722	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	19728788	109778722	139471899	16	13186											
ADORA3	140	broad.mit.edu	37	chr1	112031598	112031598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgcagatggcagaagccGtgtccagcacaaagcttctc	11	8	11	11	1	1	2	0	0	1	2	3	2	2	2	2	1	4	5	2	1	2	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:112031598G>A	ENST00000369716.4	-	3	639	c.506C>T	c.(505-507)aCg>aTg	p.T169M	ADORA3_ENST00000369717.4_Missense_Mutation_p.T88M	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GGCAGAAGCCGTGTCCAGCAC	0.498													33	80					0	0	0	0	A	112031598	G	A	112031598	3	1	68	1	0	0	0	0	1	0	0	0	329	1145	40	1	553	1	ADORA3	1	112031598	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	2252876	112031598	137219023	17	13187											
SYCP1	6847	broad.mit.edu	37	chr1	115489931	115489931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagcaacttgaaatagaaaGagaagagaaggtaggttttt	18	9	12	2	0	0	4	0	1	0	3	0	7	0	4	0	2	2	3	0	2	8	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:115489931G>A	ENST00000369522.3	+	27	2552	c.2312G>A	c.(2311-2313)aGa>aAa	p.R771K	SYCP1_ENST00000369518.1_Missense_Mutation_p.R771K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	771					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.R771I(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		GAAATAGAAAGAGAAGAGAAG	0.299													43	116					0	0	0	0	A	115489931	G	A	115489931	3	1	68	1	0	0	0	0	1	0	0	0	15522	942	33	2	2414	2	SYCP1	1	115489931	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	3458333	115489931	133760690	18	13188											
SPAG17	200162	broad.mit.edu	37	chr1	118567969	118567969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttttatagaactcatagtgCttcaccctctgggggtagct	8	14	10	9	0	3	1	2	0	1	1	3	1	3	1	1	2	3	4	1	2	5	6			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:118567969C>A	ENST00000336338.5	-	27	3866	c.3801G>T	c.(3799-3801)aaG>aaT	p.K1267N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1267						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACTCATAGTGCTTCACCCTCT	0.458													71	151					2.72615e-36	3.2828e-36	1	0	A	118567969	C	A	118567969	3	1	68	1	0	0	0	0	1	0	0	0	15069	796	28	4	2958	4	SPAG17	1	118567969	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	3078038	118567969	130682652	19	13189											
SEC22B	9554	broad.mit.edu	37	chr1	145109975	145109976	+	RNA	INS	-	-	C																															cacatgtgacaggaactttgINSctaaagatctacttgattgg																								rs67257307		TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													3	4	---	---	---	---					C	145109976	-	C	145109975	6	5	68	0	1	1	1	0	0	0	0	0	14076	1334	46	0		0	SEC22B	1	145109975	RNA	INS	-	TCGA-CN-4735-01A-01D-1434-08	26542006	145109975	104140646	20	13190											
SV2A	9900	broad.mit.edu	37	chr1	149879361	149879361	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaatcctcaaaggacacTgacttgagccgcagcccaat	13	6	10	12	1	1	2	1	2	0	0	2	4	2	4	3	2	2	1	3	2	3	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:149879361T>C	ENST00000369146.3	-	10	2059	c.1569A>G	c.(1567-1569)tcA>tcG	p.S523S	SV2A_ENST00000369145.1_Silent_p.S523S	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	523					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAAAGGACACTGACTTGAGCC	0.488													29	113					0	0	0	0	C	149879361	T	C	149879361	2	2	68	1	0	0	0	0	0	0	0	1	15507	1567	55	5		5	SV2A	1	149879361	Silent	SNP	T	TCGA-CN-4735-01A-01D-1434-08	4769386	149879361	99371260	21	13191											
ECM1	1893	broad.mit.edu	37	chr1	150484939	150484939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggatgagtgctttgcccgtCgggctccttaccccaactat	6	11	11	13	2	0	1	0	1	0	0	2	2	1	2	4	2	4	2	4	2	3	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:150484939C>T	ENST00000369047.4	+	8	1320	c.1195C>T	c.(1195-1197)Cgg>Tgg	p.R399W	ECM1_ENST00000346569.6_Missense_Mutation_p.R274W|ECM1_ENST00000369049.4_Missense_Mutation_p.R426W|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	399	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTTTGCCCGTCGGGCTCCTTA	0.567													59	173					0	0	0	0	T	150484939	C	T	150484939	3	4	68	1	0	0	0	0	1	0	0	0	4933	875	31	1	1225	1	ECM1	1	150484939	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	605578	150484939	98765682	22	13192											
OR10K1	391109	broad.mit.edu	37	chr1	158436255	158436255	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaattcaaatcagccctaCgaagaacaatcggccaaact	17	6	7	11	2	2	1	2	0	0	1	3	3	2	2	2	2	4	0	2	2	7	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:158436255C>G	ENST00000289451.2	+	1	984	c.904C>G	c.(904-906)Cga>Gga	p.R302G		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ATCAGCCCTACGAAGAACAAT	0.373													46	135					0	0	0	0	G	158436255	C	G	158436255	3	3	68	1	0	0	0	0	1	0	0	0	10984	528	19	3	906	3	OR10K1	1	158436255	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	7951316	158436255	90814366	23	13193											
CFH	3075	broad.mit.edu	37	chr1	196712640	196712640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatatagtgtcgagacagatGagtaaatatccatctggtga	14	12	10	5	1	1	4	0	2	1	2	3	5	2	4	1	1	0	1	1	1	6	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:196712640G>A	ENST00000367429.4	+	20	3432	c.3192G>A	c.(3190-3192)atG>atA	p.M1064I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1064	Sushi 18.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CGAGACAGATGAGTAAATATC	0.403													68	189					0	0	0	0	A	196712640	G	A	196712640	3	1	68	1	0	0	0	0	1	0	0	0	3312	1290	45	2	3288	2	CFH	1	196712640	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	38276385	196712640	52537981	24	13194											
ASPM	259266	broad.mit.edu	37	chr1	197112028	197112028	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcatttctactagttcttCaaaaatagctttgggagatt	11	17	6	7	0	4	1	2	0	2	1	4	2	4	1	0	1	2	2	0	1	5	9			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:197112028C>G	ENST00000367409.4	-	3	1610	c.1354G>C	c.(1354-1356)Gaa>Caa	p.E452Q	ASPM_ENST00000294732.7_Missense_Mutation_p.E452Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	452					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTAGTTCTTCAAAAATAGCT	0.338													6	289					0	0	0	0	G	197112028	C	G	197112028	3	3	68	1	0	0	0	0	1	0	0	0	1060	835	29	2	9183	2	ASPM	1	197112028	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	399388	197112028	52138593	25	13195											
PTPRC	5788	broad.mit.edu	37	chr1	198721488	198721488	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccttcgtgtctttgaactGagacattccaaggtatggaa	11	12	9	9	1	1	2	0	2	1	1	3	4	2	3	2	2	1	1	2	2	4	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:198721488G>A	ENST00000367376.2	+	30	3483	c.3312G>A	c.(3310-3312)ctG>ctA	p.L1104L	PTPRC_ENST00000352140.3_Silent_p.L1056L|PTPRC_ENST00000348564.6_Silent_p.L945L|PTPRC_ENST00000442510.2_Silent_p.L1106L|PTPRC_ENST00000594404.1_Silent_p.L943L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1104	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCTTTGAACTGAGACATTCCA	0.378													19	148					0	0	0	0	A	198721488	G	A	198721488	2	1	68	1	0	0	0	0	0	0	0	1	12879	1277	45	2		2	PTPRC	1	198721488	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08	1609460	198721488	50529133	26	13196											
DSTYK	25778	broad.mit.edu	37	chr1	205116742	205116742	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattggacttgcagagccGattcatgatgccctggagca	11	9	12	9	1	1	3	1	1	0	2	1	6	1	5	2	2	4	2	2	2	1	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:205116742G>T	ENST00000367162.3	-	13	2764	c.2734C>A	c.(2734-2736)Cgg>Agg	p.R912R	DSTYK_ENST00000367160.4_Silent_p.R571R|DSTYK_ENST00000367161.3_Silent_p.R867R	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	912						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TTGCAGAGCCGATTCATGATG	0.507													5	402					0.014758	0.0151533	1	0	T	205116742	G	T	205116742	2	4	68	1	0	0	0	0	0	0	0	1	4821	1057	37	3		3	DSTYK	1	205116742	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08	6395254	205116742	44133879	27	13197											
URB2	9816	broad.mit.edu	37	chr1	229773772	229773772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcagggatggaggggccGacatttcccaaggaagcgac	11	5	15	10	2	0	0	0	0	0	0	1	5	1	3	2	5	2	1	2	5	2	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr1:229773772G>T	ENST00000258243.2	+	4	3548	c.3412G>T	c.(3412-3414)Gac>Tac	p.D1138Y		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1138						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGGAGGGGCCGACATTTCCCA	0.632													5	152					0.014758	0.0151533	1	0	T	229773772	G	T	229773772	3	4	68	1	0	0	0	0	1	0	0	0	17121	1058	37	3	3422	3	URB2	1	229773772	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	24657030	229773772	19476849	28	13198											
DNAJC27	51277	broad.mit.edu	37	chr2	25186283	25186283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttcttacctcatagaaGaagggatgtccagccatatc	11	11	9	10	0	2	2	1	0	1	2	4	3	3	3	3	2	2	1	3	2	5	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr2:25186283G>T	ENST00000264711.2	-	3	420	c.231C>A	c.(229-231)ttC>ttA	p.F77L	DNAJC27_ENST00000468467.1_5'UTR|DNAJC27_ENST00000534855.1_Missense_Mutation_p.F6L	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	77					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCTCATAGAAGAAGGGATGTC	0.368													22	50					1.55795e-14	1.73945e-14	1	0	T	25186283	G	T	25186283	3	4	68	1	0	0	0	0	1	0	0	0	4681	933	33	2	610	2	DNAJC27	2	25186283	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08		25186283	218013090	29	13199											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27887203	27887203	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgccttttcgggaggctgtCtggctgcgacgtgtgcctgg	2	12	16	11	3	1	0	0	0	1	0	2	2	1	1	2	4	3	2	2	4	0	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr2:27887203C>G	ENST00000326019.6	+	1	866	c.584C>G	c.(583-585)tCt>tGt	p.S195C		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	195	FHA.					cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GGGAGGCTGTCTGGCTGCGAC	0.632													32	56					0	0	0	0	G	27887203	C	G	27887203	3	3	68	1	0	0	0	0	1	0	0	0	14741	913	32	2	586	2	SLC4A1AP	2	27887203	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	2700920	27887203	215312170	30	13200											
GPR75	10936	broad.mit.edu	37	chr2	54080671	54080671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttcccttttcccatggctCgaagtcgagtcttttgtttg	4	17	10	10	2	1	0	0	0	1	0	5	2	3	0	2	2	0	3	2	2	1	6			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr2:54080671C>T	ENST00000394705.2	-	2	1493	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	408						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCCCATGGCTCGAAGTCGAGT	0.448													94	183					0	0	0	0	T	54080671	C	T	54080671	3	4	68	1	0	0	0	0	1	0	0	0	6757	884	31	1	403	1	GPR75	2	54080671	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	26193468	54080671	189118702	31	13201											
CCDC85A	114800	broad.mit.edu	37	chr2	56419779	56419779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttatacctgcagaagctGaaagacctggaggtgaagca	13	7	12	9	0	0	4	0	2	0	2	0	5	0	5	3	2	4	3	3	2	5	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr2:56419779G>A	ENST00000407595.2	+	2	946	c.444G>A	c.(442-444)ctG>ctA	p.L148L	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	148										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGCAGAAGCTGAAAGACCTGG	0.572													39	56					0	0	0	0	A	56419779	G	A	56419779	2	1	68	1	0	0	0	0	0	0	0	1	2886	1277	45	2		2	CCDC85A	2	56419779	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08	2339108	56419779	186779594	32	13202											
ACTR2	10097	broad.mit.edu	37	chr2	65473816	65473816	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagataccagaaattgtaaAatcttactcacagaacctcc	17	10	4	10	0	2	3	1	0	1	3	3	3	3	3	3	0	3	1	3	0	7	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr2:65473816A>T	ENST00000260641.5	+	3	475	c.318A>T	c.(316-318)aaA>aaT	p.K106N	ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000542850.1_Missense_Mutation_p.K51N|ACTR2_ENST00000377982.4_Missense_Mutation_p.K111N	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	106					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						GAAATTGTAAAATCTTACTCA	0.368													72	154					0	0	0	0	T	65473816	A	T	65473816	3	4	68	1	0	0	0	0	1	0	0	0	211	11	1	5	347	5	ACTR2	2	65473816	Missense_Mutation	SNP	A	TCGA-CN-4735-01A-01D-1434-08	9054037	65473816	177725557	33	13203											
APLF	200558	broad.mit.edu	37	chr2	68765290	68765290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatgcaaaggcaactgattCagttctacaaggttctgaag	13	10	10	8	0	3	2	1	2	2	0	3	2	3	2	0	2	3	5	0	2	5	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr2:68765290C>T	ENST00000303795.4	+	7	1262	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	364					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GCAACTGATTCAGTTCTACAA	0.443													64	88					0	0	0	0	T	68765290	C	T	68765290	3	4	68	1	0	0	0	0	1	0	0	0	777	838	29	2	1117	2	APLF	2	68765290	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	3291474	68765290	174434083	34	13204											
EXOC6B	23233	broad.mit.edu	37	chr2	72945308	72945308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtctttgagatcggacataGaaacatcttttatttcttct	11	17	6	7	1	4	2	0	1	4	2	5	4	4	3	0	1	1	0	0	1	3	6			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr2:72945308G>A	ENST00000272427.6	-	6	723	c.593C>T	c.(592-594)tCt>tTt	p.S198F	EXOC6B_ENST00000410104.1_Missense_Mutation_p.S198F	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	198					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						ATCGGACATAGAAACATCTTT	0.438													56	104					0	0	0	0	A	72945308	G	A	72945308	3	1	68	1	0	0	0	0	1	0	0	0	5346	942	33	2	1910	2	EXOC6B	2	72945308	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	4180018	72945308	170254065	35	13205											
LRP1B	53353	broad.mit.edu	37	chr2	141072662	141072662	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcacaagttaacttacatGaatcatctgtttatgagaag	14	15	6	6	0	3	2	2	2	1	1	3	3	3	2	0	0	2	2	0	0	6	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr2:141072662G>T	ENST00000389484.3	-	83	13618	c.12647C>A	c.(12646-12648)tCa>tAa	p.S4216*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4216	EGF-like 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAACTTACATGAATCATCTGT	0.303										TSP Lung(27;0.18)			27	62					3.28513e-13	3.598e-13	1	0	T	141072662	G	T	141072662	4	4	68	1	0	0	0	0	0	1	0	0	9019	1294	45	2	1188	2	LRP1B	2	141072662	Nonsense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	68127354	141072662	102126711	36	13206											
CERKL	375298	broad.mit.edu	37	chr2	182468677	182468677	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctttttcaagcagatgAagagtgtgatacctaataaa	14	13	8	6	0	1	4	1	2	0	2	2	4	2	4	2	0	2	2	2	0	6	6			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr2:182468677A>T	ENST00000410087.3	-	2	468	c.368T>A	c.(367-369)tTc>tAc	p.F123Y	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Missense_Mutation_p.F123Y|CERKL_ENST00000339098.5_Missense_Mutation_p.F123Y|CERKL_ENST00000374970.2_Missense_Mutation_p.F123Y|CERKL_ENST00000409440.3_Missense_Mutation_p.F123Y	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	123					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CAAGCAGATGAAGAGTGTGAT	0.333													11	60					0	0	0	0	T	182468677	A	T	182468677	3	4	68	1	0	0	0	0	1	0	0	0	3297	246	9	5	1360	5	CERKL	2	182468677	Missense_Mutation	SNP	A	TCGA-CN-4735-01A-01D-1434-08	41396015	182468677	60730696	37	13207											
FAM171B	165215	broad.mit.edu	37	chr2	187626381	187626381	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaactcctcatatagtcctCagaaaaaggaaccatcaaag	19	7	5	10	0	3	1	3	0	0	1	5	2	5	2	3	1	2	0	3	1	8	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr2:187626381C>T	ENST00000304698.5	+	8	1515	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	438						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ATATAGTCCTCAGAAAAAGGA	0.348													41	91					0	0	0	0	T	187626381	C	T	187626381	4	4	68	1	0	0	0	0	0	1	0	0	5532	827	29	2	1342	2	FAM171B	2	187626381	Nonsense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	5157704	187626381	55572992	38	13208											
MARS2	92935	broad.mit.edu	37	chr2	198570720	198570720	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gattcgtttcctgtatctctCgagagcgggcatccagtctc	6	13	10	12	3	2	1	0	0	2	1	8	3	4	1	2	1	1	3	2	1	1	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr2:198570720C>G	ENST00000282276.6	+	1	634	c.591C>G	c.(589-591)ctC>ctG	p.L197L	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	197					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.L197L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CTGTATCTCTCGAGAGCGGGC	0.587													57	119					0	0	0	0	G	198570720	C	G	198570720	2	3	68	1	0	0	0	0	0	0	0	1	9386	871	31	3		3	MARS2	2	198570720	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08	10944339	198570720	44628653	39	13209											
CHPF	79586	broad.mit.edu	37	chr2	220404983	220404983	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccggagcagctgcactcGgcgagtgaggggccggcggc	5	3	20	13	6	0	1	0	1	0	0	1	3	0	2	2	7	3	3	2	7	0	0			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr2:220404983G>A	ENST00000243776.6	-	4	1698	c.1450C>T	c.(1450-1452)Cga>Tga	p.R484*	CHPF_ENST00000535926.1_Nonsense_Mutation_p.R322*	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	484						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCTGCACTCGGCGAGTGAGG	0.667													14	32					0	0	0	0	A	220404983	G	A	220404983	4	1	68	1	0	0	0	0	0	1	0	0	3397	1124	39	1	881	1	CHPF	2	220404983	Nonsense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	21834263	220404983	22794390	40	13210											
CAPN10	11132	broad.mit.edu	37	chr2	241535795	241535795	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccccccgtggctggcacCgcgtgccatgcatacgaccg	6	6	12	17	5	0	0	0	0	0	0	0	1	0	0	6	2	4	3	6	2	1	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr2:241535795C>T	ENST00000391984.2	+	8	1534	c.1338C>T	c.(1336-1338)acC>acT	p.T446T	CAPN10_ENST00000404753.3_Silent_p.T446T|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	446	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGGCTGGCACCGCGTGCCATG	0.667													4	193					0	0	0	0	T	241535795	C	T	241535795	2	4	68	1	0	0	0	0	0	0	0	1	2648	639	23	1		1	CAPN10	2	241535795	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08	21130812	241535795	1663578	41	13211											
GRM7	2917	broad.mit.edu	37	chr3	7188164	7188164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagattagttatgcatcaaCggcacccgagctaagtgatg	12	9	10	10	2	1	2	1	1	0	1	1	3	1	2	2	1	3	4	2	1	4	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr3:7188164C>T	ENST00000486284.1	+	2	819	c.545C>T	c.(544-546)aCg>aTg	p.T182M	GRM7_ENST00000402647.2_Missense_Mutation_p.T182M|GRM7_ENST00000403881.1_Missense_Mutation_p.T182M|GRM7_ENST00000357716.4_Missense_Mutation_p.T182M|GRM7_ENST00000389336.4_Missense_Mutation_p.T182M	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	182					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			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)	TATGCATCAACGGCACCCGAG	0.502													64	56					0	0	0	0	T	7188164	C	T	7188164	3	4	68	1	0	0	0	0	1	0	0	0	6852	536	19	1	551	1	GRM7	3	7188164	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08		7188164	190834266	42	13212											
RAB5A	5868	broad.mit.edu	37	chr3	20025262	20025262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctgccagaggaagaggaGtagaccttaccgaacccaca	14	6	10	11	1	1	3	0	0	1	3	1	6	1	5	4	2	3	1	4	2	4	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr3:20025262G>A	ENST00000273047.4	+	6	1131	c.595G>A	c.(595-597)Gta>Ata	p.V199I	RAB5A_ENST00000422242.1_Missense_Mutation_p.V185I	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	199					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						AGGAAGAGGAGTAGACCTTAC	0.368													9	16					0	0	0	0	A	20025262	G	A	20025262	3	1	68	1	0	0	0	0	1	0	0	0	13030	1029	36	4	613	4	RAB5A	3	20025262	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	12837098	20025262	177997168	43	13213											
UBP1	7342	broad.mit.edu	37	chr3	33481236	33481236	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcccagtacctcatgctGtaagcgccggcgcccagttc	7	7	12	15	3	1	0	1	0	0	0	2	1	1	1	4	2	4	4	4	2	2	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr3:33481236G>A	ENST00000283629.3	-	1	634	c.105C>T	c.(103-105)taC>taT	p.Y35Y	UBP1_ENST00000447368.2_Silent_p.Y35Y|UBP1_ENST00000283628.5_Silent_p.Y35Y	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	35					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						ACCTCATGCTGTAAGCGCCGG	0.667													33	27					0	0	0	0	A	33481236	G	A	33481236	2	1	68	1	0	0	0	0	0	0	0	1	16991	1372	48	4		4	UBP1	3	33481236	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08	13455974	33481236	164541194	44	13214											
SCN11A	11280	broad.mit.edu	37	chr3	38888755	38888755	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattgaagttctctaaaatCacagcaatgtacatgttgac	14	13	7	7	0	2	2	1	2	1	0	3	2	2	2	0	0	2	5	0	0	6	6			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr3:38888755C>A	ENST00000302328.3	-	26	5004	c.4806G>T	c.(4804-4806)gtG>gtT	p.V1602V	SCN11A_ENST00000456224.3_Silent_p.V1564V|SCN11A_ENST00000450244.1_Silent_p.V1602V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1602					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTCTAAAATCACAGCAATGT	0.413													4	148					0.00024832	0.000263196	1	0	A	38888755	C	A	38888755	2	1	68	1	0	0	0	0	0	0	0	1	14000	813	29	2		2	SCN11A	3	38888755	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08	5407519	38888755	159133675	45	13215											
ULK4	54986	broad.mit.edu	37	chr3	41877374	41877374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgggtggctacaagataGatcagctccccaagggttgg	10	8	13	10	0	1	2	1	0	0	2	2	2	2	2	3	4	2	3	3	4	4	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr3:41877374G>C	ENST00000301831.4	-	18	2208	c.1746C>G	c.(1744-1746)atC>atG	p.I582M		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	582							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTACAAGATAGATCAGCTCCC	0.393													4	166					0	0	0	0	C	41877374	G	C	41877374	3	2	68	1	0	0	0	0	1	0	0	0	17074	932	33	2	2161	2	ULK4	3	41877374	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	2988619	41877374	156145056	46	13216											
PDE12	201626	broad.mit.edu	37	chr3	57543358	57543358	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaagaactgctggagaaaCtagttttgtacccatcagcg	14	9	9	9	1	1	2	1	0	0	2	1	3	1	2	1	1	5	3	1	1	5	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr3:57543358C>G	ENST00000311180.8	+	1	1355	c.1252C>G	c.(1252-1254)Cta>Gta	p.L418V	PDE12_ENST00000487257.1_Missense_Mutation_p.L418V	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	418							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GCTGGAGAAACTAGTTTTGTA	0.468													50	41					0	0	0	0	G	57543358	C	G	57543358	3	3	68	1	0	0	0	0	1	0	0	0	11703	564	20	4	1254	4	PDE12	3	57543358	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	15665984	57543358	140479072	47	13217											
STXBP5L	9515	broad.mit.edu	37	chr3	121100262	121100262	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcacggaaaaatgactctAccatctctccttgtctgttc	9	14	6	12	1	3	1	0	1	3	0	6	2	4	2	2	1	2	2	2	1	3	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr3:121100262A>G	ENST00000273666.6	+	23	2813	c.2542A>G	c.(2542-2544)Acc>Gcc	p.T848A	STXBP5L_ENST00000472879.1_Missense_Mutation_p.T824A|STXBP5L_ENST00000471454.1_Missense_Mutation_p.T824A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.T822A|STXBP5L_ENST00000492541.1_Missense_Mutation_p.T848A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	848					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAATGACTCTACCATCTCTCC	0.408													108	263					0	0	0	0	G	121100262	A	G	121100262	3	3	68	1	0	0	0	0	1	0	0	0	15447	391	14	5	2628	5	STXBP5L	3	121100262	Missense_Mutation	SNP	A	TCGA-CN-4735-01A-01D-1434-08	63556904	121100262	76922168	48	13218											
ALG1L	200810	broad.mit.edu	37	chr3	125651539	125651539	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttgtgtccatcaagagtAagttgttcaaactctgtgtt	10	15	10	6	0	3	1	2	0	1	1	4	1	4	1	1	1	1	5	1	1	3	5	rs147593769	by1000genomes	TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr3:125651539A>C	ENST00000340333.3	-	3	277	c.114T>G	c.(112-114)ctT>ctG	p.L38L		NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	38							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						CATCAAGAGTAAGTTGTTCAA	0.423													3	153					0	0	0	0	C	125651539	A	C	125651539	2	2	68	1	0	0	0	0	0	0	0	1	517	349	13	5		5	ALG1L	3	125651539	Silent	SNP	A	TCGA-CN-4735-01A-01D-1434-08	4551277	125651539	72370891	49	13219											
MED12L	116931	broad.mit.edu	37	chr3	151148153	151148153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccttggtgcggcagctcCagaagcagctttccagtaag	8	8	12	13	2	0	1	0	0	0	1	2	1	2	1	4	2	4	5	4	2	2	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr3:151148153C>G	ENST00000474524.1	+	42	6408	c.6370C>G	c.(6370-6372)Cag>Gag	p.Q2124E	MED12L_ENST00000273432.4_Missense_Mutation_p.Q1788E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2124	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCGGCAGCTCCAGAAGCAGCT	0.537													47	150					0	0	0	0	G	151148153	C	G	151148153	3	3	68	1	0	0	0	0	1	0	0	0	9498	595	21	4	6536	4	MED12L	3	151148153	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	25496614	151148153	46874277	50	13220											
P2RY1	5028	broad.mit.edu	37	chr3	152554038	152554038	+	Missense_Mutation	SNP	C	C	T																															gtacagcggtgtggtgtaccCcctcaagtccctgggccggc																										TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr3:152554038C>T	ENST00000305097.3	+	1	1303	c.467C>T	c.(466-468)cCc>cTc	p.P156L		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	156					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GTGGTGTACCCCCTCAAGTCC	0.527													31	135					0	0	0	0	T	152554038	C	T	152554038	3	4	68	1	0	0	0	0	1	0	0	0	11417	623	22	4	469	4	P2RY1	3	152554038	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	1405885	152554038	45468392	51	13221	115	2									
P2RY1	5028	broad.mit.edu	37	chr3	152554042	152554042	+	Silent	SNP	C	C	T																															agcggtgtggtgtaccccctCaagtccctgggccggctcaa																										TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr3:152554042C>T	ENST00000305097.3	+	1	1307	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	157					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGTACCCCCTCAAGTCCCTGG	0.532													31	138					0	0	0	0	T	152554042	C	T	152554042	2	4	68	1	0	0	0	0	0	0	0	1	11417	813	29	2		2	P2RY1	3	152554042	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08	4	152554042	45468388	52	13222	115	2									
P2RY1	5028	broad.mit.edu	37	chr3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcaatgacagggtttatgCcacgtatcaggtgacaagag	12	11	11	7	1	2	3	2	2	0	1	2	3	2	3	1	2	1	2	1	2	4	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478													5	264					0	0	0	0	T	152554482	C	T	152554482	3	4	68	1	0	0	0	0	1	0	0	0	11417	739	26	4	913	4	P2RY1	3	152554482	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	440	152554482	45467948	53	13223											
VEPH1	79674	broad.mit.edu	37	chr3	156979086	156979086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggggagagagcggtccCtgcgtttcttggccacagcc	5	7	15	14	3	1	1	0	0	1	1	2	3	2	2	4	4	3	1	4	4	0	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr3:156979086C>A	ENST00000362010.2	-	14	2646	c.2339G>T	c.(2338-2340)aGg>aTg	p.R780M	RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.R735M|VEPH1_ENST00000392832.2_Missense_Mutation_p.R780M|VEPH1_ENST00000392833.2_Missense_Mutation_p.R735M|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	780	PH.					plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGAGCGGTCCCTGCGTTTCTT	0.483													4	226					0.000602214	0.000635364	1	0	A	156979086	C	A	156979086	3	1	68	1	0	0	0	0	1	0	0	0	17250	681	24	4	166	4	VEPH1	3	156979086	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	4424604	156979086	41043344	54	13224											
SERPINI2	5276	broad.mit.edu	37	chr3	167167167	167167167	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactttttgcgtcacttGggaaacatacacttcagatg	13	12	8	8	1	2	1	2	0	0	1	2	3	2	2	0	1	4	0	0	1	4	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr3:167167167G>A	ENST00000476257.1	-	8	1286	c.988C>T	c.(988-990)Caa>Taa	p.Q330*	SERPINI2_ENST00000471111.1_Nonsense_Mutation_p.Q330*|SERPINI2_ENST00000264677.4_Nonsense_Mutation_p.Q330*|SERPINI2_ENST00000461846.1_Nonsense_Mutation_p.Q330*			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	330					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TGCGTCACTTGGGAAACATAC	0.338													3	89					0	0	0	0	A	167167167	G	A	167167167	4	1	68	1	0	0	0	0	0	1	0	0	14206	1357	47	4	241	4	SERPINI2	3	167167167	Nonsense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	10188081	167167167	30855263	55	13225											
KLHL6	89857	broad.mit.edu	37	chr3	183225976	183225976	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagaagcggtaagcgcacGttctcgaggacataggggag	11	6	15	9	4	1	1	0	0	1	1	3	4	2	3	1	4	2	3	1	4	3	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr3:183225976G>A	ENST00000341319.3	-	3	815	c.780C>T	c.(778-780)aaC>aaT	p.N260N		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	260	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTAAGCGCACGTTCTCGAGGA	0.577													89	217					0	0	0	0	A	183225976	G	A	183225976	2	1	68	1	0	0	0	0	0	0	0	1	8445	1136	40	1		1	KLHL6	3	183225976	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08	16058809	183225976	14796454	56	13226											
REST	5978	broad.mit.edu	37	chr4	57785989	57785989	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgaactttgtccttactCaagttctcagaagactcatc	11	14	6	10	0	3	3	3	1	1	2	6	3	4	3	1	0	2	1	1	0	4	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr4:57785989C>G	ENST00000309042.7	+	3	1249	c.935C>G	c.(934-936)tCa>tGa	p.S312*	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	312					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGTCCTTACTCAAGTTCTCAG	0.328													40	44					0	0	0	0	G	57785989	C	G	57785989	4	3	68	1	0	0	0	0	0	1	0	0	13316	838	29	2	941	2	REST	4	57785989	Nonsense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08		57785989	133368287	57	13227											
CENPE	1062	broad.mit.edu	37	chr4	104068527	104068527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttactttagccaaagtttCtctaatatgttctttcagct	10	18	4	9	0	3	0	1	0	2	0	4	0	3	0	1	0	3	3	1	0	5	8			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr4:104068527C>T	ENST00000265148.3	-	29	4209	c.4120G>A	c.(4120-4122)Gaa>Aaa	p.E1374K	CENPE_ENST00000380026.3_Missense_Mutation_p.E1349K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1374					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GCCAAAGTTTCTCTAATATGT	0.323													7	100					0	0	0	0	T	104068527	C	T	104068527	3	4	68	1	0	0	0	0	1	0	0	0	3259	922	32	2	4069	2	CENPE	4	104068527	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	46282538	104068527	87085749	58	13228											
IRX4	50805	broad.mit.edu	37	chr5	1879734	1879734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgttccgcggcggccacGtcatcttgttctccttcttg	3	15	9	14	4	4	0	1	0	3	0	6	0	5	0	3	2	0	2	3	2	0	6			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr5:1879734G>T	ENST00000505790.1	-	5	1076	c.620C>A	c.(619-621)aCg>aAg	p.T207K	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.T207K|IRX4_ENST00000231357.2_Missense_Mutation_p.T207K	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	207					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CGGCGGCCACGTCATCTTGTT	0.657													35	73					1.06647e-15	1.19653e-15	1	0	T	1879734	G	T	1879734	3	4	68	1	0	0	0	0	1	0	0	0	7899	1145	40	3	947	3	IRX4	5	1879734	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08		1879734	179035526	59	13229											
ADCY2	108	broad.mit.edu	37	chr5	7802384	7802384	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgtttgcctccattccGgatttcaaagaattttatac	10	16	6	9	1	2	1	2	0	0	1	4	2	4	2	3	1	2	1	3	1	4	6			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr5:7802384G>A	ENST00000338316.4	+	21	2771	c.2682G>A	c.(2680-2682)ccG>ccA	p.P894P	ADCY2_ENST00000537121.1_Silent_p.P714P	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	894					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.P894P(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCTCCATTCCGGATTTCAAAG	0.473													32	53					0	0	0	0	A	7802384	G	A	7802384	2	1	68	1	0	0	0	0	0	0	0	1	294	1103	39	1		1	ADCY2	5	7802384	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08	5922650	7802384	173112876	60	13230											
FBXL7	23194	broad.mit.edu	37	chr5	15928296	15928296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcgcgcgagtgtgccGccgctggtacaacctggcct	4	7	14	16	6	0	0	0	0	0	0	0	1	0	0	5	2	4	3	5	2	2	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr5:15928296G>A	ENST00000504595.1	+	3	906	c.425G>A	c.(424-426)cGc>cAc	p.R142H	FBXL7_ENST00000510662.1_Missense_Mutation_p.R95H|FBXL7_ENST00000329673.7_Missense_Mutation_p.R130H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	142	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CGAGTGTGCCGCCGCTGGTAC	0.672													9	15					0	0	0	0	A	15928296	G	A	15928296	3	1	68	1	0	0	0	0	1	0	0	0	5769	1087	38	1	435	1	FBXL7	5	15928296	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	8125912	15928296	164986964	61	13231											
CDH10	1008	broad.mit.edu	37	chr5	24509693	24509693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctaatggggctggaaataGaatctgggtcccttgccatt	10	11	11	9	0	1	1	0	0	1	1	2	2	2	2	3	4	1	1	3	4	4	4	rs1395027		TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr5:24509693G>C	ENST00000264463.4	-	7	1745	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	413	Cadherin 4.		S -> F (in dbSNP:rs1395027).		adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S413Y(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCTGGAAATAGAATCTGGGTC	0.483										HNSCC(23;0.051)			43	75					0	0	0	0	C	24509693	G	C	24509693	3	2	68	1	0	0	0	0	1	0	0	0	3125	942	33	2	1152	2	CDH10	5	24509693	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	8581397	24509693	156405567	62	13232											
MRPS30	10884	broad.mit.edu	37	chr5	44813211	44813211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttattttgctcttcaggctCaaaaactgcagatccttgct	9	16	6	10	0	3	1	2	0	1	1	4	1	4	1	1	1	4	4	1	1	3	6			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr5:44813211C>T	ENST00000507110.1	+	4	895	c.857C>T	c.(856-858)tCa>tTa	p.S286L		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	286					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TCTTCAGGCTCAAAAACTGCA	0.373													21	128					0	0	0	0	T	44813211	C	T	44813211	3	4	68	1	0	0	0	0	1	0	0	0	9910	838	29	2	871	2	MRPS30	5	44813211	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	20303518	44813211	136102049	63	13233											
PDE4D	5144	broad.mit.edu	37	chr5	59284492	59284492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggacaagatagggttccattCcgcggaaagggtcttcctct	9	10	12	10	2	2	1	0	0	2	1	5	3	5	3	3	4	0	1	3	4	3	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr5:59284492C>T	ENST00000502484.2	-	3	318	c.95G>A	c.(94-96)gGa>gAa	p.G32E	PDE4D_ENST00000546160.1_Missense_Mutation_p.G32E	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GGGTTCCATTCCGCGGAAAGG	0.428													56	126					0	0	0	0	T	59284492	C	T	59284492	3	4	68	1	0	0	0	0	1	0	0	0	11713	855	30	2	2721	2	PDE4D	5	59284492	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	14471281	59284492	121630768	64	13234											
SV2C	22987	broad.mit.edu	37	chr5	75621244	75621244	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcagcagccgtcctgggaAacttaatatttggctctctg	9	11	11	10	1	1	0	0	0	1	0	3	1	2	1	2	3	3	3	2	3	3	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr5:75621244A>C	ENST00000502798.2	+	13	2498	c.2056A>C	c.(2056-2058)Aac>Cac	p.N686H	SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	686					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CGTCCTGGGAAACTTAATATT	0.522													82	138					0	0	0	0	C	75621244	A	C	75621244	3	2	68	1	0	0	0	0	1	0	0	0	15509	14	1	5	2102	5	SV2C	5	75621244	Missense_Mutation	SNP	A	TCGA-CN-4735-01A-01D-1434-08	16336752	75621244	105294016	65	13235											
KCNN2	3781	broad.mit.edu	37	chr5	113831873	113831873	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccaacttcatcagagagTagctagaagagaataagtta	17	8	8	8	0	2	3	2	0	0	3	2	5	2	3	2	0	2	3	2	0	7	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr5:113831873T>C	ENST00000512097.3	+	9	2752	c.1734T>C	c.(1732-1734)agT>agC	p.S578S	RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Silent_p.S230S|KCNN2_ENST00000264773.3_Silent_p.S578S			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	578						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CATCAGAGAGTAGCTAGAAGA	0.458													3	192					0	0	0	0	C	113831873	T	C	113831873	2	2	68	1	0	0	0	0	0	0	0	1	8132	1635	57	5		5	KCNN2	5	113831873	Silent	SNP	T	TCGA-CN-4735-01A-01D-1434-08	38210629	113831873	67083387	66	13236											
SLC22A4	6583	broad.mit.edu	37	chr5	131630361	131630361	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgagtgggggcccttcCagcgcctcatcttcttcctg	3	11	13	14	2	3	0	1	0	2	0	5	1	5	0	4	3	1	0	4	3	0	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr5:131630361C>G	ENST00000200652.3	+	1	226	c.52C>G	c.(52-54)Cag>Gag	p.Q18E	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	18					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GGGGCCCTTCCAGCGCCTCAT	0.617													26	58					0	0	0	0	G	131630361	C	G	131630361	3	3	68	1	0	0	0	0	1	0	0	0	14544	595	21	4	54	4	SLC22A4	5	131630361	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	17798488	131630361	49284899	67	13237											
SLC22A4	6583	broad.mit.edu	37	chr5	131630460	131630460	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggaccccggagcaccgctgtCgagtgccggacgccgcgaac	7	3	15	16	7	0	0	0	0	0	0	1	5	0	3	5	3	3	2	5	3	1	0			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr5:131630460C>G	ENST00000200652.3	+	1	325	c.151C>G	c.(151-153)Cga>Gga	p.R51G	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	51					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GCACCGCTGTCGAGTGCCGGA	0.672													24	47					0	0	0	0	G	131630460	C	G	131630460	3	3	68	1	0	0	0	0	1	0	0	0	14544	876	31	3	153	3	SLC22A4	5	131630460	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	99	131630460	49284800	68	13238											
PCDHB3	56132	broad.mit.edu	37	chr5	140481978	140481978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccccgggcggctgagcCgggctacctggtgaccaagg	5	5	18	13	3	0	2	0	2	0	0	0	2	0	2	5	6	3	2	5	6	2	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr5:140481978C>T	ENST00000231130.2	+	1	1745	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		582	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCTGAGCCGGGCTACCTG	0.701													63	115					0	0	0	0	T	140481978	C	T	140481978	3	4	68	1	0	0	0	0	1	0	0	0	11614	652	23	1	1747	1	PCDHB3	5	140481978	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	8851518	140481978	40433282	69	13239											
HDGFL1	154150	broad.mit.edu	37	chr6	22570125	22570125	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcggagacgggccttggccGgagcccgaggccgcagaggg	7	2	20	12	5	0	2	0	0	0	2	0	5	0	3	4	6	2	1	4	6	0	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr6:22570125G>A	ENST00000510882.2	+	1	331	c.321G>A	c.(319-321)ccG>ccA	p.P107P	HDGFL1_ENST00000230012.3_Silent_p.P107P			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	107										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GGCCTTGGCCGGAGCCCGAGG	0.687													2	3					0	0	0	0	A	22570125	G	A	22570125	2	1	68	1	0	0	0	0	0	0	0	1	7069	1103	39	1		1	HDGFL1	6	22570125	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08		22570125	148544942	70	13240											
SYNGAP1	8831	broad.mit.edu	37	chr6	33402927	33402927	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaacctcctgcctgccAgggcccggctgatgcaaagc	7	7	11	16	1	0	2	0	2	0	0	2	2	2	2	6	2	5	2	6	2	2	0			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr6:33402927A>T	ENST00000418600.2	+	6	610		c.e6-1		SYNGAP1_ENST00000293748.5_Splice_Site|SYNGAP1_ENST00000496374.1_Splice_Site|SYNGAP1_ENST00000428982.2_Splice_Site	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1						negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCTGCCTGCCAGGGCCCGGCT	0.498													4	158					0	0	0	0	T	33402927	A	T	33402927	5	4	68	1	0	0	0	0	0	0	1	0	15538	202	7	5	530	5	SYNGAP1	6	33402927	Splice_Site	SNP	A	TCGA-CN-4735-01A-01D-1434-08	10832802	33402927	137712140	71	13241											
RNF217	154214	broad.mit.edu	37	chr6	125404058	125404058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtaaaaaacagagaaaacGatcacggacaggtatgcact	18	7	9	7	2	1	1	1	0	0	1	1	4	1	2	0	2	3	3	0	2	6	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr6:125404058G>A	ENST00000521654.2	+	6	1604	c.1604G>A	c.(1603-1605)cGa>cAa	p.R535Q	RNF217_ENST00000359704.2_3'UTR|RNF217_ENST00000275184.6_Missense_Mutation_p.R179Q|RNF217_ENST00000368414.2_Missense_Mutation_p.R97Q|RNF217_ENST00000560949.1_Missense_Mutation_p.R300Q			Q8TC41	RN217_HUMAN	ring finger protein 217	110					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CAGAGAAAACGATCACGGACA	0.393													22	38					0	0	0	0	A	125404058	G	A	125404058	3	1	68	1	0	0	0	0	1	0	0	0	13566	1073	37	1		1	RNF217	6	125404058	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	92001131	125404058	45711009	72	13242											
PCLO	27445	broad.mit.edu	37	chr7	82582957	82582957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttaacttttttttaggaaGaatagttggtttaggtgaag	11	18	11	1	0	0	2	0	1	0	1	0	3	0	3	0	3	1	3	0	3	7	9			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr7:82582957G>A	ENST00000423517.2	-	5	7649	c.7312C>T	c.(7312-7314)Ctt>Ttt	p.L2438F	PCLO_ENST00000333891.8_Missense_Mutation_p.L2438F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2369	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTTTAGGAAGAATAGTTGGT	0.517													13	11					0	0	0	0	A	82582957	G	A	82582957	3	1	68	1	0	0	0	0	1	0	0	0	11654	942	33	2	8217	2	PCLO	7	82582957	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08		82582957	76555706	73	13243											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757768	99757768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagtgatgtatttggggTcagaagcctcaccccctacc	9	10	10	12	0	3	2	3	1	0	1	3	3	3	2	4	2	2	1	4	2	3	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr7:99757768T>C	ENST00000360039.4	-	4	1636	c.1244A>G	c.(1243-1245)gAc>gGc	p.D415G	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.D415G|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D353G|GAL3ST4_ENST00000423751.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	415					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTATTTGGGGTCAGAAGCCTC	0.587													75	343					0	0	0	0	C	99757768	T	C	99757768	3	2	68	1	0	0	0	0	1	0	0	0	6249	1667	58	5	220	5	GAL3ST4	7	99757768	Missense_Mutation	SNP	T	TCGA-CN-4735-01A-01D-1434-08	17174811	99757768	59380895	74	13244											
NAPEPLD	222236	broad.mit.edu	37	chr7	102743965	102743965	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttaagtccgtatctctctaGagcttcattcagcttcactg	8	15	7	11	1	5	1	3	0	2	1	7	1	6	1	1	0	2	4	1	0	3	6			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr7:102743965G>C	ENST00000417955.1	-	5	1247	c.1093C>G	c.(1093-1095)Cta>Gta	p.L365V	NAPEPLD_ENST00000455523.2_Missense_Mutation_p.L438V|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.L365V|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.L365V|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.L365V			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	365					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TATCTCTCTAGAGCTTCATTC	0.333													51	185					0	0	0	0	C	102743965	G	C	102743965	3	2	68	1	0	0	0	0	1	0	0	0	10233	933	33	2	92	2	NAPEPLD	7	102743965	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	2986197	102743965	56394698	75	13245											
DNAJC2	27000	broad.mit.edu	37	chr7	102953456	102953456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttctgctattttttcccAtctttcaggtgtatttactg	5	20	6	10	1	3	0	1	0	2	0	4	0	4	0	1	1	2	3	1	1	3	9			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr7:102953456A>G	ENST00000379263.3	-	16	1979	c.1729T>C	c.(1729-1731)Tgg>Cgg	p.W577R	DNAJC2_ENST00000249270.7_Missense_Mutation_p.W524R|PMPCB_ENST00000420236.2_Intron|PMPCB_ENST00000249269.4_3'UTR	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	577	SANT 2.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ATTTTTTCCCATCTTTCAGGT	0.398													177	838					0	0	0	0	G	102953456	A	G	102953456	3	3	68	1	0	0	0	0	1	0	0	0	4675	217	8	5	144	5	DNAJC2	7	102953456	Missense_Mutation	SNP	A	TCGA-CN-4735-01A-01D-1434-08	209491	102953456	56185207	76	13246											
PSMC2	5701	broad.mit.edu	37	chr7	102988177	102988177	+	Missense_Mutation	SNP	G	G	T																															aaatgccggattacctcggtGccgatcagcggaagaccaaa																										TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr7:102988177G>T	ENST00000435765.1	+	2	430	c.19G>T	c.(19-21)Gcc>Tcc	p.A7S	PSMC2_ENST00000544811.1_5'UTR|PSMC2_ENST00000292644.3_Missense_Mutation_p.A7S	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	7					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TTACCTCGGTGCCGATCAGCG	0.577													35	270					1.04594e-18	1.18505e-18	1	0	T	102988177	G	T	102988177	3	4	68	1	0	0	0	0	1	0	0	0	12765	1319	46	4	21	4	PSMC2	7	102988177	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	34721	102988177	56150486	77	13247	116	2									
PSMC2	5701	broad.mit.edu	37	chr7	102988178	102988178	+	Missense_Mutation	SNP	C	C	T																															aatgccggattacctcggtgCcgatcagcggaagaccaaag																										TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr7:102988178C>T	ENST00000435765.1	+	2	431	c.20C>T	c.(19-21)gCc>gTc	p.A7V	PSMC2_ENST00000544811.1_5'UTR|PSMC2_ENST00000292644.3_Missense_Mutation_p.A7V	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	7					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TACCTCGGTGCCGATCAGCGG	0.577													35	268					0	0	0	0	T	102988178	C	T	102988178	3	4	68	1	0	0	0	0	1	0	0	0	12765	739	26	4	22	4	PSMC2	7	102988178	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	1	102988178	56150485	78	13248	116	2									
MFHAS1	9258	broad.mit.edu	37	chr8	8748457	8748457	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgctctcatgcaggtaggaGagggcactctgcagtcggtc	7	8	14	12	2	2	1	1	0	2	1	5	2	2	1	1	4	2	5	1	4	1	1	rs150651778		TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr8:8748457G>A	ENST00000276282.6	-	1	2698	c.2112C>T	c.(2110-2112)ctC>ctT	p.L704L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	704										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GCAGGTAGGAGAGGGCACTCT	0.627													26	40					0	0	0	0	A	8748457	G	A	8748457	2	1	68	1	0	0	0	0	0	0	0	1	9590	929	33	2		2	MFHAS1	8	8748457	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08		8748457	137615565	79	13249											
MFHAS1	9258	broad.mit.edu	37	chr8	8748738	8748738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggtggttgagcaggtattGaaaatgggccttgcgccgtc	7	10	15	9	3	0	2	0	2	0	0	1	2	0	2	3	4	2	3	3	4	3	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr8:8748738G>C	ENST00000276282.6	-	1	2417	c.1831C>G	c.(1831-1833)Caa>Gaa	p.Q611E		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	611	Roc.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AGCAGGTATTGAAAATGGGCC	0.627													49	97					0	0	0	0	C	8748738	G	C	8748738	3	2	68	1	0	0	0	0	1	0	0	0	9590	1299	45	2	1339	2	MFHAS1	8	8748738	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	281	8748738	137615284	80	13250											
SCARA5	286133	broad.mit.edu	37	chr8	27737157	27737157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcatgcggcacaccacgtctCcgtccttcttgtcccagccg	5	9	9	18	4	2	0	0	0	2	0	5	0	4	0	5	1	2	2	5	1	0	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr8:27737157C>T	ENST00000354914.3	-	8	1765	c.1280G>A	c.(1279-1281)gGa>gAa	p.G427E	SCARA5_ENST00000380385.2_Missense_Mutation_p.G202E	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	427	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CACCACGTCTCCGTCCTTCTT	0.637													74	151					0	0	0	0	T	27737157	C	T	27737157	3	4	68	1	0	0	0	0	1	0	0	0	13966	855	30	2	215	2	SCARA5	8	27737157	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	18988419	27737157	118626865	81	13251											
XKR4	114786	broad.mit.edu	37	chr8	56270330	56270330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatggtatatgagtatgCggatgtgagtatgctgcatt	12	13	13	3	1	0	2	0	2	0	0	0	4	0	3	0	2	3	5	0	2	6	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr8:56270330C>T	ENST00000327381.5	+	2	999	c.899C>T	c.(898-900)gCg>gTg	p.A300V		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	300						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TATGAGTATGCGGATGTGAGT	0.453													5	180					0	0	0	0	T	56270330	C	T	56270330	3	4	68	1	0	0	0	0	1	0	0	0	17529	768	27	1	905	1	XKR4	8	56270330	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	28533173	56270330	90093692	82	13252											
CSMD3	114788	broad.mit.edu	37	chr8	113267588	113267588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgaatgaaacctctgActggtatataaagcttttgc	12	12	9	8	0	1	3	0	3	1	0	1	3	1	3	1	1	4	4	1	1	6	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr8:113267588A>G	ENST00000297405.5	-	62	10175	c.9931T>C	c.(9931-9933)Tca>Cca	p.S3311P	CSMD3_ENST00000352409.3_Missense_Mutation_p.S3241P|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3271P|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3142P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3311	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAACCTCTGACTGGTATATA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			49	88					0	0	0	0	G	113267588	A	G	113267588	3	3	68	1	0	0	0	0	1	0	0	0	3978	275	10	5	1232	5	CSMD3	8	113267588	Missense_Mutation	SNP	A	TCGA-CN-4735-01A-01D-1434-08	56997258	113267588	33096434	83	13253											
FAM83H	286077	broad.mit.edu	37	chr8	144812752	144812752	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgagagcgacgggccaTgttggggccaggggcctgga	6	6	19	10	2	1	1	0	1	1	1	1	4	1	2	3	6	1	2	3	6	0	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr8:144812752T>C	ENST00000388913.3	-	2	126	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGACGGGCCATGTTGGGGCCA	0.657													12	25					0	0	0	0	C	144812752	T	C	144812752	1	2	68	1	0	0	0	0	0	0	0	0	5686	1464	51	5		5	FAM83H	8	144812752	Translation_Start_Site	SNP	T	TCGA-CN-4735-01A-01D-1434-08	31545164	144812752	1551270	84	13254											
SMARCA2	6595	broad.mit.edu	37	chr9	2097460	2097460	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaccacccatatatgtttCagcacattgaggtaagtctg	12	11	8	10	0	2	1	1	1	1	0	2	1	2	1	2	1	2	4	2	1	4	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr9:2097460C>A	ENST00000382203.1	+	21	3276	c.3067C>A	c.(3067-3069)Cag>Aag	p.Q1023K	SMARCA2_ENST00000382194.1_Missense_Mutation_p.Q1023K|SMARCA2_ENST00000349721.2_Missense_Mutation_p.Q1023K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.Q1023K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1023					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATATATGTTTCAGCACATTGA	0.353													64	50					2.10369e-13	2.31507e-13	1	0	A	2097460	C	A	2097460	3	1	68	1	0	0	0	0	1	0	0	0	14857	827	29	2	3145	2	SMARCA2	9	2097460	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08		2097460	139115971	85	13255											
UBAC1	10422	broad.mit.edu	37	chr9	138825301	138825301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcagcatgacaggccccGtttctggatcattcatccac	8	11	8	14	1	4	1	2	1	2	0	5	2	5	2	3	2	2	3	3	2	0	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr9:138825301G>A	ENST00000371756.3	-	10	1380	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M		NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	388	STI1.					Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		GACAGGCCCCGTTTCTGGATC	0.562													86	62					0	0	0	0	A	138825301	G	A	138825301	3	1	68	1	0	0	0	0	1	0	0	0	16930	1145	40	1	58	1	UBAC1	9	138825301	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	136727841	138825301	2388130	86	13256											
EHMT1	79813	broad.mit.edu	37	chr9	140708936	140708936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgcatgtgcggccagctCagcatgcgctgctggtacga	8	8	13	12	3	1	0	1	0	0	0	1	1	1	0	1	2	8	6	1	2	2	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr9:140708936C>T	ENST00000460843.1	+	22	3261	c.3234C>T	c.(3232-3234)ctC>ctT	p.L1078L		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1078	Pre-SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCGGCCAGCTCAGCATGCGCT	0.642													48	32					0	0	0	0	T	140708936	C	T	140708936	2	4	68	1	0	0	0	0	0	0	0	1	5019	813	29	2		2	EHMT1	9	140708936	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08	1883635	140708936	504495	87	13257											
AGAP4	119016	broad.mit.edu	37	chr10	46322371	46322371	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggagatgggtgtgcaGgccgatgtggctagggatgg	7	8	22	4	1	0	1	0	0	0	1	0	5	0	2	1	7	1	2	1	7	1	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr10:46322371G>A	ENST00000448048.2	-	7	1109	c.984C>T	c.(982-984)gcC>gcT	p.A328A		NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	328	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)|lung(1)|ovary(1)	3						TGGGTGTGCAGGCCGATGTGG	0.488													72	216					0	0	0	0	A	46322371	G	A	46322371	2	1	68	1	0	0	0	0	0	0	0	1	370	987	35	4		4	AGAP4	10	46322371	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08		46322371	89212376	88	13258											
UNC5B	219699	broad.mit.edu	37	chr10	73050857	73050857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accccgtcaactttaagacgGcaaggcccagtaagaacccg	13	5	9	14	3	1	2	1	0	0	2	1	2	1	2	4	2	2	2	4	2	5	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr10:73050857G>A	ENST00000335350.6	+	9	1701	c.1285G>A	c.(1285-1287)Gca>Aca	p.A429T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	429					apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.A429T(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTTTAAGACGGCAAGGCCCAG	0.597													6	451					0	0	0	0	A	73050857	G	A	73050857	3	1	68	1	0	0	0	0	1	0	0	0	17088	1203	42	4	1319	4	UNC5B	10	73050857	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	26728486	73050857	62483890	89	13259											
SLC16A12	387700	broad.mit.edu	37	chr10	91203593	91203605	+	Frame_Shift_Del	DEL	TCCACAAAAAAAA	TCCACAAAAAAAA	-																															gagtgaagtatgtctggaacTccacaaaaaaaattgagata																										TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr10:91203593_91203605delTCCACAAAAAAAA	ENST00000341233.4	-	4	512_524	c.122_134delTTTTTTTTGTGGA	c.(121-135)agfs	p.IFFVE41fs	SLC16A12_ENST00000371790.4_Frame_Shift_Del_p.IFFVE71fs	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	41						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TGTCTGGAACTCCACAAAAAAAATTGAGATACA	0.371													12	73	---	---	---	---					-	91203605	TCCACAAAAAAAA	-	91203593	7	5	68	1	0	1	0	1	0	0	0	0	14493	1551	54	0	1346	0	SLC16A12	10	91203593	Frame_Shift_Del	DEL	TCCACAAAAAAAA	TCGA-CN-4735-01A-01D-1434-08	18152736	91203593	44331154	90	13260											
DNMBP	23268	broad.mit.edu	37	chr10	101639776	101639776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagctacatctgcagagtccCctgaccttggctgggaggtg	7	10	13	11	0	1	2	0	1	1	1	2	3	2	3	3	3	3	3	3	3	2	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr10:101639776C>A	ENST00000342239.3	-	16	4503	c.4412G>T	c.(4411-4413)gGg>gTg	p.G1471V	DNMBP_ENST00000324109.4_Missense_Mutation_p.G1447V|DNMBP_ENST00000540316.1_Missense_Mutation_p.G383V|DNMBP_ENST00000543621.1_Missense_Mutation_p.G693V			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1447					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGCAGAGTCCCCTGACCTTGG	0.532													4	143					0.150653	0.15332	1	0	A	101639776	C	A	101639776	3	1	68	1	0	0	0	0	1	0	0	0	4710	623	22	4	401	4	DNMBP	10	101639776	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	10436183	101639776	33894971	91	13261											
SCD	6319	broad.mit.edu	37	chr10	102114253	102114253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaacacatgctgatcctCataattcccgacgtggcttt	11	11	7	12	2	1	2	1	1	0	1	3	3	3	2	2	1	2	2	2	1	2	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr10:102114253C>A	ENST00000370355.2	+	4	892	c.511C>A	c.(511-513)Cat>Aat	p.H171N		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	171					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TGCTGATCCTCATAATTCCCG	0.502													69	163					3.31162e-33	3.92614e-33	1	0	A	102114253	C	A	102114253	3	1	68	1	0	0	0	0	1	0	0	0	13972	826	29	2	525	2	SCD	10	102114253	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	474477	102114253	33420494	92	13262											
FBXW4	6468	broad.mit.edu	37	chr10	103432746	103432746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagttcacctcctgttcatGagccgagtacttgacagtga	10	11	9	11	1	2	3	2	3	0	0	3	4	3	3	3	0	2	3	3	0	1	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr10:103432746G>A	ENST00000331272.7	-	4	1219	c.601C>T	c.(601-603)Cat>Tat	p.H201Y		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	201					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		TCCTGTTCATGAGCCGAGTAC	0.507													42	74					0	0	0	0	A	103432746	G	A	103432746	3	1	68	1	0	0	0	0	1	0	0	0	5812	1290	45	2	661	2	FBXW4	10	103432746	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	1318493	103432746	32102001	93	13263											
ATRNL1	26033	broad.mit.edu	37	chr10	117704253	117704253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttctggagtccggaatcGaaaacacctttcaacacgtc	12	9	8	12	3	2	0	1	0	1	0	5	4	3	2	2	2	2	0	2	2	4	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr10:117704253G>T	ENST00000355044.3	+	29	4229	c.4103G>T	c.(4102-4104)cGa>cTa	p.R1368L	ATRNL1_ENST00000423111.2_Missense_Mutation_p.R419L|ATRNL1_ENST00000303745.7_Missense_Mutation_p.R161L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1368						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTCCGGAATCGAAAACACCTT	0.418													69	142					1.77791e-30	2.09703e-30	1	0	T	117704253	G	T	117704253	3	4	68	1	0	0	0	0	1	0	0	0	1211	1058	37	3	4217	3	ATRNL1	10	117704253	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	14271507	117704253	17830494	94	13264											
SYT8	90019	broad.mit.edu	37	chr11	1858221	1858221	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccagctcatgctgaaccaGaggaagtggaagaagagaaa	16	5	13	7	0	1	4	1	1	0	3	2	7	2	6	2	2	3	2	2	2	5	0			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr11:1858221G>A	ENST00000341958.3	+	7	1127	c.825G>A	c.(823-825)caG>caA	p.Q275Q	SYT8_ENST00000381968.3_Silent_p.Q289Q|SYT8_ENST00000535046.1_3'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	289	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCTGAACCAGAGGAAGTGGA	0.627													8	89					0	0	0	0	A	1858221	G	A	1858221	2	1	68	1	0	0	0	0	0	0	0	1	15571	933	33	2		2	SYT8	11	1858221	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08		1858221	133148295	95	13265											
TSPAN32	10077	broad.mit.edu	37	chr11	2335794	2335794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcagggagaggaggcggCgagagaggtgagggggggac	9	3	25	4	2	1	3	1	1	0	2	1	8	1	5	0	8	0	0	0	8	0	0			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr11:2335794C>T	ENST00000182290.4	+	6	673	c.536C>T	c.(535-537)gCg>gTg	p.A179V	TSPAN32_ENST00000381121.3_Missense_Mutation_p.A179V|TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000451520.2_Missense_Mutation_p.A168V	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	179					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GAGGAGGCGGCGAGAGAGGTG	0.652													9	7					0	0	0	0	T	2335794	C	T	2335794	3	4	68	1	0	0	0	0	1	0	0	0	16742	768	27	1	558	1	TSPAN32	11	2335794	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	477573	2335794	132670722	96	13266											
KCNA4	3739	broad.mit.edu	37	chr11	30032952	30032952	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgccacccccctgttgcTgggccaggtcagtgcccagt	5	9	11	16	0	1	0	1	0	0	0	1	0	1	0	6	2	3	2	6	2	0	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr11:30032952T>A	ENST00000328224.6	-	2	2507	c.1274A>T	c.(1273-1275)cAg>cTg	p.Q425L		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	425						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCCCTGTTGCTGGGCCAGGTC	0.507													57	44					0	0	0	0	A	30032952	T	A	30032952	3	1	68	1	0	0	0	0	1	0	0	0	8058	1580	55	5	691	5	KCNA4	11	30032952	Missense_Mutation	SNP	T	TCGA-CN-4735-01A-01D-1434-08	27697158	30032952	104973564	97	13267											
OR4C16	219428	broad.mit.edu	37	chr11	55340373	55340373	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgcatatttatgtacaCatgccttgcaaccgtattcc	10	14	5	12	1	0	0	0	0	0	0	1	0	1	0	4	0	5	4	4	0	5	8			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr11:55340373C>A	ENST00000314634.3	+	1	770	c.770C>A	c.(769-771)aCa>aAa	p.T257K		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTTATGTACACATGCCTTGCA	0.398													53	109					3.76997e-23	4.33546e-23	1	0	A	55340373	C	A	55340373	3	1	68	1	0	0	0	0	1	0	0	0	11120	478	17	4	772	4	OR4C16	11	55340373	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	25307421	55340373	79666143	98	13268											
OR5M10	390167	broad.mit.edu	37	chr11	56344940	56344940	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagatggtcttctgttctgaGaggaaattgtgcagcatatt	10	14	12	5	0	3	2	0	1	3	2	3	5	3	3	0	2	2	3	0	2	2	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr11:56344940G>A	ENST00000526812.2	-	1	323	c.258C>T	c.(256-258)ctC>ctT	p.L86L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCTGTTCTGAGAGGAAATTGT	0.438													44	86					0	0	0	0	A	56344940	G	A	56344940	2	1	68	1	0	0	0	0	0	0	0	1	11244	929	33	2		2	OR5M10	11	56344940	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08	1004567	56344940	78661576	99	13269											
PCNXL3	399909	broad.mit.edu	37	chr11	65383829	65383829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgccagggggtgtgggcctCgctcaccggcggttggttct	2	9	18	12	4	2	0	1	0	1	0	3	0	2	0	3	6	0	3	3	6	0	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr11:65383829C>T	ENST00000355703.3	+	1	586	c.47C>T	c.(46-48)tCg>tTg	p.S16L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	16						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GTGTGGGCCTCGCTCACCGGC	0.667													9	9					0	0	0	0	T	65383829	C	T	65383829	3	4	68	1	0	0	0	0	1	0	0	0	11664	893	31	1	49	1	PCNXL3	11	65383829	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	9038889	65383829	69622687	100	13270											
NUDT8	254552	broad.mit.edu	37	chr11	67395614	67395614	+	Missense_Mutation	SNP	G	G	T																															gacccggtgtggtccatgcaGgaagacgggtagtgtgtagc																										TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr11:67395614G>T	ENST00000376693.2	-	4	523	c.514C>A	c.(514-516)Ctg>Atg	p.L172M	NUDT8_ENST00000301490.4_3'UTR	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	172	Nudix hydrolase.					mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						GGTCCATGCAGGAAGACGGGT	0.642													28	132					1.36615e-20	1.55551e-20	1	0	T	67395614	G	T	67395614	3	4	68	1	0	0	0	0	1	0	0	0	10816	1015	35	4		4	NUDT8	11	67395614	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	2011785	67395614	67610902	101	13271	117	2									
NUDT8	254552	broad.mit.edu	37	chr11	67395615	67395615	+	Silent	SNP	G	G	A																															acccggtgtggtccatgcagGaagacgggtagtgtgtagcg																										TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr11:67395615G>A	ENST00000376693.2	-	4	522	c.513C>T	c.(511-513)ttC>ttT	p.F171F	NUDT8_ENST00000301490.4_3'UTR	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	171	Nudix hydrolase.					mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						GTCCATGCAGGAAGACGGGTA	0.642													28	131					0	0	0	0	A	67395615	G	A	67395615	2	1	68	1	0	0	0	0	0	0	0	1	10816	1189	41	2		2	NUDT8	11	67395615	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08	1	67395615	67610901	102	13272	117	2									
FOLR1	2348	broad.mit.edu	37	chr11	71906662	71906662	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaaatcacccaggtggatCagagctggcgcaaagagcgg	13	5	13	10	2	3	2	3	0	0	2	3	3	3	3	1	4	2	2	1	4	3	0			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr11:71906662C>T	ENST00000393679.1	+	4	800	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	FOLR1_ENST00000393681.2_Nonsense_Mutation_p.Q122*|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Nonsense_Mutation_p.Q122*|FOLR1_ENST00000312293.4_Nonsense_Mutation_p.Q122*			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	122					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CCAGGTGGATCAGAGCTGGCG	0.542													28	199					0	0	0	0	T	71906662	C	T	71906662	4	4	68	1	0	0	0	0	0	1	0	0	6026	827	29	2	374	2	FOLR1	11	71906662	Nonsense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	4511047	71906662	63099854	103	13273											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021005	73021005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtgccaaaggacctggagGcacctctagggcattgaggg	9	6	15	11	1	1	1	0	1	1	0	1	3	1	3	4	5	1	2	4	5	2	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr11:73021005G>A	ENST00000263674.3	+	1	1672	c.1322G>A	c.(1321-1323)gGc>gAc	p.G441D		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	441					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGACCTGGAGGCACCTCTAGG	0.607													37	29					0	0	0	0	A	73021005	G	A	73021005	3	1	68	1	0	0	0	0	1	0	0	0	902	1203	42	4	1324	4	ARHGEF17	11	73021005	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	1114343	73021005	61985511	104	13274											
TYR	7299	broad.mit.edu	37	chr11	88911535	88911535	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaaattttttgcctacctCactttagcaaagcataccat	13	13	4	11	0	1	0	1	0	0	0	1	1	1	0	3	0	5	2	3	0	5	7			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr11:88911535C>T	ENST00000263321.5	+	1	916	c.414C>T	c.(412-414)ctC>ctT	p.L138L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	138					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTGCCTACCTCACTTTAGCAA	0.438													13	136					0	0	0	0	T	88911535	C	T	88911535	2	4	68	1	0	0	0	0	0	0	0	1	16909	813	29	2		2	TYR	11	88911535	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08	15890530	88911535	46094981	105	13275											
HEPN1	641654	broad.mit.edu	37	chr11	124789685	124789685	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattgctccatgggttgaTggcgaatcagagctggagtt	9	11	15	6	1	1	2	1	1	0	1	2	5	2	4	1	4	2	4	1	4	2	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr11:124789685T>A	ENST00000408930.5	+	1	540	c.39T>A	c.(37-39)gaT>gaA	p.D13E	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	13						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		CATGGGTTGATGGCGAATCAG	0.517													39	37					0	0	0	0	A	124789685	T	A	124789685	3	1	68	1	0	0	0	0	1	0	0	0	7106	1461	51	5	41	5	HEPN1	11	124789685	Missense_Mutation	SNP	T	TCGA-CN-4735-01A-01D-1434-08	35878150	124789685	10216831	106	13276											
CACNA1C	775	broad.mit.edu	37	chr12	2595407	2595407	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagatgcacaagacctgcTacaaccaggagggcatagca	15	4	12	10	0	0	2	0	0	0	2	0	4	0	4	2	3	5	4	2	3	5	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr12:2595407T>C	ENST00000399655.1	+	6	1160	c.895T>C	c.(895-897)Tac>Cac	p.Y299H	CACNA1C_ENST00000347598.4_Missense_Mutation_p.Y299H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Y299H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Y299H	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	299					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CAAGACCTGCTACAACCAGGA	0.602													16	61					0	0	0	0	C	2595407	T	C	2595407	3	2	68	1	0	0	0	0	1	0	0	0	2565	1522	53	5	917	5	CACNA1C	12	2595407	Missense_Mutation	SNP	T	TCGA-CN-4735-01A-01D-1434-08		2595407	131256488	107	13277											
CLEC4E	26253	broad.mit.edu	37	chr12	8689784	8689784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctttaaacttaacgcccagGaaatggtgtcagtagaaaag	15	10	9	7	1	2	1	1	0	1	1	2	2	2	2	1	2	2	1	1	2	7	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr12:8689784G>A	ENST00000299663.3	-	4	464	c.299C>T	c.(298-300)tCc>tTc	p.S100F	CLEC4E_ENST00000545274.1_Intron|CLEC4E_ENST00000446457.2_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	100	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TAACGCCCAGGAAATGGTGTC	0.463													47	77					0	0	0	0	A	8689784	G	A	8689784	3	1	68	1	0	0	0	0	1	0	0	0	3545	1174	41	2	372	2	CLEC4E	12	8689784	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	6094377	8689784	125162111	108	13278											
ATF7IP	55729	broad.mit.edu	37	chr12	14577111	14577111	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggaagtaaagcagaaTggaaggaaacaccctgtatc	17	6	11	7	0	0	2	0	1	0	1	1	5	0	5	1	3	2	3	1	3	8	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr12:14577111T>C	ENST00000544627.1	+	2	606	c.286T>C	c.(286-288)Tgg>Cgg	p.W96R	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.W88R|ATF7IP_ENST00000543189.1_Missense_Mutation_p.W88R|ATF7IP_ENST00000261168.4_Missense_Mutation_p.W88R|ATF7IP_ENST00000540793.1_Missense_Mutation_p.W88R			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	88					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TAAAGCAGAATGGAAGGAAAC	0.378													34	67					0	0	0	0	C	14577111	T	C	14577111	3	2	68	1	0	0	0	0	1	0	0	0	1091	1464	51	5	264	5	ATF7IP	12	14577111	Missense_Mutation	SNP	T	TCGA-CN-4735-01A-01D-1434-08	5887327	14577111	119274784	109	13279											
HOXC9	3225	broad.mit.edu	37	chr12	54396297	54396297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtaccagacgctggaactgGagaaggagtttctcttcaat	12	10	11	8	1	2	2	1	0	1	2	3	5	2	4	1	3	2	3	1	3	4	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr12:54396297G>A	ENST00000303450.4	+	2	692	c.622G>A	c.(622-624)Gag>Aag	p.E208K	HOXC9_ENST00000508190.1_Missense_Mutation_p.E208K|HOXC9_ENST00000504557.1_3'UTR	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	208					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						GCTGGAACTGGAGAAGGAGTT	0.557													62	119					0	0	0	0	A	54396297	G	A	54396297	3	1	68	1	0	0	0	0	1	0	0	0	7367	1175	41	2	628	2	HOXC9	12	54396297	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	39819186	54396297	79455598	110	13280											
R3HDM2	22864	broad.mit.edu	37	chr12	57648863	57648863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtacgggtgatgccctcaGggagatctgtcacctccagc	8	8	12	13	1	3	2	2	1	1	1	4	3	4	2	3	2	3	1	3	2	1	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr12:57648863G>A	ENST00000402412.1	-	24	3056	c.2666C>T	c.(2665-2667)cCt>cTt	p.P889L	R3HDM2_ENST00000403821.2_Missense_Mutation_p.P909L|R3HDM2_ENST00000441731.2_Missense_Mutation_p.P570L|R3HDM2_ENST00000393811.2_Missense_Mutation_p.P602L|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000358907.2_Missense_Mutation_p.P875L|R3HDM2_ENST00000347140.3_Missense_Mutation_p.P875L|R3HDM2_ENST00000413953.2_Intron			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	875						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GATGCCCTCAGGGAGATCTGT	0.602													48	91					0	0	0	0	A	57648863	G	A	57648863	3	1	68	1	0	0	0	0	1	0	0	0	12970	1000	35	4	310	4	R3HDM2	12	57648863	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	3252566	57648863	76203032	111	13281											
SLC26A10	65012	broad.mit.edu	37	chr12	58018675	58018675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtcccggggctctgcatCctgagctatccaacaccact	8	8	9	16	1	1	1	0	1	1	0	4	1	4	1	4	3	3	3	4	3	2	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr12:58018675C>A	ENST00000379218.2	+	11	1672	c.1361C>A	c.(1360-1362)tCc>tAc	p.S454Y	SLC26A10_ENST00000320442.4_Silent_p.I418I|SLC26A10_ENST00000490243.1_3'UTR			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	0	STAS.					integral to membrane	antiporter activity	p.S454C(1)|p.I418M(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GGCTCTGCATCCTGAGCTATC	0.577													78	165					7.68447e-34	9.15766e-34	1	0	A	58018675	C	A	58018675	3	1	68	1	0	0	0	0	1	0	0	0	14603	845	30	2	1292	2	SLC26A10	12	58018675	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	369812	58018675	75833220	112	13282											
TMEM132D	121256	broad.mit.edu	37	chr12	130184678	130184678	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcccctccggctggtccacGgacttcctcctcccggcaac	4	8	9	20	3	0	0	0	0	0	0	6	1	6	1	7	4	1	2	7	4	1	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr12:130184678G>A	ENST00000422113.2	-	2	971	c.645C>T	c.(643-645)tcC>tcT	p.S215S		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	215						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCTGGTCCACGGACTTCCTCC	0.692													40	79					0	0	0	0	A	130184678	G	A	130184678	2	1	68	1	0	0	0	0	0	0	0	1	16141	1103	39	1		1	TMEM132D	12	130184678	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08	72166003	130184678	3667217	113	13283											
ZNF10	7556	broad.mit.edu	37	chr12	133732286	133732286	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatttgaggcaagtggcaTtcacccaaaagaaagtactt	15	9	9	8	0	1	2	1	1	0	1	1	3	1	2	1	2	1	3	1	2	5	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr12:133732286T>G	ENST00000248211.6	+	5	676	c.454T>G	c.(454-456)Ttc>Gtc	p.F152V	ZNF10_ENST00000426665.2_Missense_Mutation_p.F152V|ZNF10_ENST00000402932.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	152				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GCAAGTGGCATTCACCCAAAA	0.413													43	64					0	0	0	0	G	133732286	T	G	133732286	3	3	68	1	0	0	0	0	1	0	0	0	17807	1493	52	5	468	5	ZNF10	12	133732286	Missense_Mutation	SNP	T	TCGA-CN-4735-01A-01D-1434-08	3547608	133732286	119609	114	13284											
RIPK3	11035	broad.mit.edu	37	chr14	24808260	24808260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaggacgttggatggCttgaggtcccggtgcaggag	7	8	17	9	2	0	1	0	1	0	0	2	4	2	4	2	6	2	4	2	6	0	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr14:24808260C>T	ENST00000216274.5	-	3	650	c.432G>A	c.(430-432)aaG>aaA	p.K144K		NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	144	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CGTTGGATGGCTTGAGGTCCC	0.627													30	34					0	0	0	0	T	24808260	C	T	24808260	2	4	68	1	0	0	0	0	0	0	0	1	13467	796	28	4		4	RIPK3	14	24808260	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08		24808260	82541280	115	13285											
PTGER2	5732	broad.mit.edu	37	chr14	52781581	52781581	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtggcactggcgcccgaGagccgcgcgtgcacctactt	5	7	14	15	5	0	1	0	0	0	1	0	2	0	1	3	3	3	2	3	3	1	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr14:52781581G>A	ENST00000245457.5	+	1	469	c.315G>A	c.(313-315)gaG>gaA	p.E105E	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	105						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TGGCGCCCGAGAGCCGCGCGT	0.647													26	63					0	0	0	0	A	52781581	G	A	52781581	2	1	68	1	0	0	0	0	0	0	0	1	12823	933	33	2		2	PTGER2	14	52781581	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08	27973321	52781581	54567959	116	13286											
FBLN5	10516	broad.mit.edu	37	chr14	92357640	92357640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggatccaggaacattcgCacagagctgctggcagtaac	13	7	11	10	1	0	1	0	0	0	1	2	3	1	3	1	3	4	5	1	3	3	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr14:92357640C>T	ENST00000267620.10	-	7	836	c.667G>A	c.(667-669)Gcg>Acg	p.A223T	FBLN5_ENST00000342058.4_Missense_Mutation_p.A182T|FBLN5_ENST00000556154.1_Missense_Mutation_p.A187T			Q9UBX5	FBLN5_HUMAN	fibulin 5	182	EGF-like 4; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				GGAACATTCGCACAGAGCTGC	0.473													79	29					0	0	0	0	T	92357640	C	T	92357640	3	4	68	1	0	0	0	0	1	0	0	0	5745	710	25	4	826	4	FBLN5	14	92357640	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	39576059	92357640	14991900	117	13287											
FMN1	342184	broad.mit.edu	37	chr15	33359987	33359987	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaatagggatttcatagaGaacttactcaggatcgactg	14	10	9	8	1	2	1	2	0	0	1	3	5	2	3	1	2	2	0	1	2	5	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr15:33359987G>A	ENST00000334528.9	-	1	98	c.99C>T	c.(97-99)ttC>ttT	p.F33F	FMN1_ENST00000559047.1_Intron|FMN1_ENST00000558197.1_Silent_p.F33F|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		ATTTCATAGAGAACTTACTCA	0.428													42	68					0	0	0	0	A	33359987	G	A	33359987	2	1	68	1	0	0	0	0	0	0	0	1	5994	933	33	2		2	FMN1	15	33359987	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08		33359987	69171405	118	13288											
THBS1	7057	broad.mit.edu	37	chr15	39876366	39876366	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaccattgtgaccacgcTgcaggacagcatccgcaaag	11	5	11	14	3	0	1	0	1	0	0	1	2	1	2	3	1	2	5	3	1	1	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr15:39876366T>C	ENST00000260356.5	+	5	1046	c.881T>C	c.(880-882)cTg>cCg	p.L294P		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	294					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GTGACCACGCTGCAGGACAGC	0.557													19	42					0	0	0	0	C	39876366	T	C	39876366	3	2	68	1	0	0	0	0	1	0	0	0	15947	1580	55	5	895	5	THBS1	15	39876366	Missense_Mutation	SNP	T	TCGA-CN-4735-01A-01D-1434-08	6516379	39876366	62655026	119	13289											
MAPK6	5597	broad.mit.edu	37	chr15	52339091	52339091	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggctcaagtatattcactCtgcaaatgtactgcacagag	12	10	10	9	0	3	1	2	0	1	1	3	1	3	1	0	2	3	5	0	2	5	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr15:52339091C>G	ENST00000261845.5	+	2	1241	c.434C>G	c.(433-435)tCt>tGt	p.S145C		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	145	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TATATTCACTCTGCAAATGTA	0.468													71	96					0	0	0	0	G	52339091	C	G	52339091	3	3	68	1	0	0	0	0	1	0	0	0	9350	913	32	2	436	2	MAPK6	15	52339091	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	12462725	52339091	50192301	120	13290											
ABCA3	21	broad.mit.edu	37	chr16	2376444	2376444	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagttcttccagaggaggagCgccagctgcctgagcacagc	9	7	13	12	1	1	2	0	1	1	1	2	4	2	4	3	2	5	3	3	2	1	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr16:2376444C>T	ENST00000301732.5	-	4	724	c.24G>A	c.(22-24)gcG>gcA	p.A8A	ABCA3_ENST00000382381.3_Silent_p.A8A|ABCA3_ENST00000567910.1_Silent_p.A8A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	8					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGAGGAGGAGCGCCAGCTGCC	0.602													15	37					0	0	0	0	T	2376444	C	T	2376444	2	4	68	1	0	0	0	0	0	0	0	1	33	755	27	1		1	ABCA3	16	2376444	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08		2376444	87978309	121	13291											
ZNF747	65988	broad.mit.edu	37	chr16	30545603	30545603	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttctcctccacccaggaGatgagcgccggcttgctgcc	5	8	11	17	2	1	2	0	1	1	1	3	3	2	2	6	2	3	2	6	2	0	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr16:30545603G>C	ENST00000252799.3	-	1	1065	c.398C>G	c.(397-399)tCt>tGt	p.S133C	ZNF747_ENST00000395094.3_Missense_Mutation_p.S133C|ZNF747_ENST00000535210.1_Missense_Mutation_p.I86M|ZNF747_ENST00000568028.1_Missense_Mutation_p.I86M|AC002310.13_ENST00000568114.1_Missense_Mutation_p.I75M|ZNF747_ENST00000569360.1_Missense_Mutation_p.I86M	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	133	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			kidney(1)|lung(3)|prostate(1)	5						CCACCCAGGAGATGAGCGCCG	0.687													9	14					0	0	0	0	C	30545603	G	C	30545603	3	2	68	1	0	0	0	0	1	0	0	0	18224	942	33	2	185	2	ZNF747	16	30545603	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	28169159	30545603	59809150	122	13292											
TOX3	27324	broad.mit.edu	37	chr16	52497888	52497888	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcacgccatcttgttccacGagatttcttgagattgtaat	10	14	8	9	2	2	2	0	1	2	2	3	4	3	2	2	0	1	3	2	0	1	6	rs147213203	by1000genomes	TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr16:52497888G>A	ENST00000219746.9	-	3	650	c.366C>T	c.(364-366)ctC>ctT	p.L122L	TOX3_ENST00000407228.3_Silent_p.L117L	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	122					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CTTGTTCCACGAGATTTCTTG	0.433													58	118					0	0	0	0	A	52497888	G	A	52497888	2	1	68	1	0	0	0	0	0	0	0	1	16474	1045	37	1		1	TOX3	16	52497888	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08	21952285	52497888	37856865	123	13293											
HYDIN	54768	broad.mit.edu	37	chr16	70913521	70913521	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttggtacctgggcaagccatCcaaggtagcctcaaagatgc	11	8	11	11	0	1	1	1	0	0	1	2	1	2	1	4	3	4	3	4	3	5	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr16:70913521C>G	ENST00000393567.2	-	61	10504	c.10354G>C	c.(10354-10356)Gat>Cat	p.D3452H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3452										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGCAAGCCATCCAAGGTAGCC	0.577													18	83					0	0	0	0	G	70913521	C	G	70913521	3	3	68	1	0	0	0	0	1	0	0	0	7520	855	30	2	5115	2	HYDIN	16	70913521	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	18415633	70913521	19441232	124	13294											
CBFA2T3	863	broad.mit.edu	37	chr16	88968004	88968004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgtggaccggggctgcGtcttcacctccgctggggag	3	8	19	11	3	2	0	1	0	1	0	3	2	3	2	3	7	1	2	3	7	0	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr16:88968004G>A	ENST00000268679.4	-	2	608	c.212C>T	c.(211-213)aCg>aTg	p.T71M	CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.T10M|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.T71M|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.T10M	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	71	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCGGGGCTGCGTCTTCACCTC	0.667			T	RUNX1	AML								23	46					0	0	0	0	A	88968004	G	A	88968004	3	1	68	1	0	0	0	0	1	0	0	0	2723	1145	40	1	1793	1	CBFA2T3	16	88968004	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	18054483	88968004	1386749	125	13295											
TP53	7157	broad.mit.edu	37	chr17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgcaggaactgttacaCatgtagttgtagtggatggt	10	12	12	7	0	0	0	0	0	0	0	0	2	0	2	1	3	3	5	1	3	4	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr17:7577570C>T	ENST00000420246.2	-	7	843	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AACTGTTACACATGTAGTTGT	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	21					0	0	0	0	T	7577570	C	T	7577570	3	4	68	1	0	0	0	0	1	0	0	0	16476	478	17	4	579	4	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08		7577570	73617640	126	13296											
MYO18A	399687	broad.mit.edu	37	chr17	27493807	27493807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttggattcacgcttggagGagcggttcaggttgaagaag	9	11	15	6	2	3	2	2	1	1	1	3	5	3	5	0	5	1	3	0	5	2	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr17:27493807G>A	ENST00000527372.1	-	2	332	c.152C>T	c.(151-153)tCc>tTc	p.S51F	MYO18A_ENST00000354329.4_Missense_Mutation_p.S51F|MYO18A_ENST00000531253.1_Missense_Mutation_p.S51F|MYO18A_ENST00000533112.1_Missense_Mutation_p.S51F	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	51					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACGCTTGGAGGAGCGGTTCAG	0.567													11	16					0	0	0	0	A	27493807	G	A	27493807	3	1	68	1	0	0	0	0	1	0	0	0	10135	1174	41	2	6176	2	MYO18A	17	27493807	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	19916237	27493807	53701403	127	13297											
HNF1B	6928	broad.mit.edu	37	chr17	36064935	36064935	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttactttgtgcaattGccatgactccagagaggggt	11	11	11	8	0	0	3	0	1	0	2	1	4	1	3	2	2	4	1	2	2	3	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr17:36064935G>C	ENST00000225893.4	-	6	1689	c.1328C>G	c.(1327-1329)gCa>gGa	p.A443G	HNF1B_ENST00000560016.1_Missense_Mutation_p.A443G|HNF1B_ENST00000427275.2_Missense_Mutation_p.A417G|HNF1B_ENST00000561193.1_Missense_Mutation_p.A417G	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	443					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TTGTGCAATTGCCATGACTCC	0.463													56	141					0	0	0	0	C	36064935	G	C	36064935	3	2	68	1	0	0	0	0	1	0	0	0	7302	1319	46	4	361	4	HNF1B	17	36064935	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	8571128	36064935	45130275	128	13298											
KRT33B	3884	broad.mit.edu	37	chr17	39522833	39522833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaatcctgcgcaggctgttGatgtcggactccaccagctg	8	9	12	12	2	0	2	0	1	0	1	3	3	2	3	3	2	2	4	3	2	1	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr17:39522833G>A	ENST00000251646.3	-	3	526	c.477C>T	c.(475-477)atC>atT	p.I159I		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	159	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCAGGCTGTTGATGTCGGACT	0.562													40	82					0	0	0	0	A	39522833	G	A	39522833	2	1	68	1	0	0	0	0	0	0	0	1	8522	1280	45	2		2	KRT33B	17	39522833	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08	3457898	39522833	41672377	129	13299											
PPY	5539	broad.mit.edu	37	chr17	42018893	42018893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatactgggccatctgctCtggtgtggcattgtcccctg	4	13	12	12	0	2	0	0	0	2	0	3	0	3	0	3	3	3	3	3	3	1	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr17:42018893C>T	ENST00000591228.1	-	2	217	c.130G>A	c.(130-132)Gag>Aag	p.E44K	PPY_ENST00000587006.1_Missense_Mutation_p.E44K|PPY_ENST00000225992.3_Missense_Mutation_p.E44K			P01298	PAHO_HUMAN	pancreatic polypeptide	44					digestion|protein secretion	extracellular region	hormone activity			large_intestine(2)|lung(1)|skin(1)	4		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCCATCTGCTCTGGTGTGGCA	0.607													44	107					0	0	0	0	T	42018893	C	T	42018893	3	4	68	1	0	0	0	0	1	0	0	0	12491	922	32	2	169	2	PPY	17	42018893	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	2496060	42018893	39176317	130	13300											
SCN4A	6329	broad.mit.edu	37	chr17	62034533	62034533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactcaccacaagattgcCgatgaccatgaccatgagga	13	7	8	13	1	2	4	2	3	0	1	2	6	2	5	4	1	1	0	4	1	1	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr17:62034533C>T	ENST00000578147.1	-	13	2441	c.2365G>A	c.(2365-2367)Ggc>Agc	p.G789S	SCN4A_ENST00000435607.1_Missense_Mutation_p.G789S			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	789					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ACAAGATTGCCGATGACCATG	0.582													17	43					0	0	0	0	T	62034533	C	T	62034533	3	4	68	1	0	0	0	0	1	0	0	0	14007	652	23	1	3193	1	SCN4A	17	62034533	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	20015640	62034533	19160677	131	13301											
FBF1	85302	broad.mit.edu	37	chr17	73915956	73915956	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctagcaccttgatgcggcttCtgccaacagaacacccagcc	10	7	8	16	1	1	2	0	1	1	1	1	2	1	2	4	1	6	2	4	1	3	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr17:73915956C>T	ENST00000586717.1	-	19	2163		c.e19-1		FBF1_ENST00000389570.4_Splice_Site|FBF1_ENST00000319129.5_Splice_Site			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1											large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GATGCGGCTTCTGCCAACAGA	0.602													37	57					0	0	0	0	T	73915956	C	T	73915956	5	4	68	1	0	0	0	0	0	0	1	0	5740	927	32	2	1559	2	FBF1	17	73915956	Splice_Site	SNP	C	TCGA-CN-4735-01A-01D-1434-08	11881423	73915956	7279254	132	13302											
AANAT	15	broad.mit.edu	37	chr17	74465350	74465350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtccctgggctggttcgagGagggctgccttgtggccttc	2	12	16	11	1	0	0	0	0	0	0	3	2	1	1	3	5	1	3	3	5	0	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr17:74465350G>A	ENST00000250615.3	+	6	1401	c.394G>A	c.(394-396)Gag>Aag	p.E132K	AANAT_ENST00000392492.3_Missense_Mutation_p.E87K	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	87	Acetyl-CoA binding (By similarity).|N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						CTGGTTCGAGGAGGGCTGCCT	0.627													113	232					0	0	0	0	A	74465350	G	A	74465350	3	1	68	1	0	0	0	0	1	0	0	0	18	1175	41	2	404	2	AANAT	17	74465350	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	549394	74465350	6729860	133	13303											
SYNGR2	9144	broad.mit.edu	37	chr17	76167595	76167595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccgtcctcccccagctctCtggaccttcctgtggtttgt	3	13	8	17	1	1	0	0	0	1	0	5	1	4	1	6	2	1	2	6	2	0	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr17:76167595C>T	ENST00000589711.1	+	2	117	c.104C>T	c.(103-105)tCt>tTt	p.S35F	SYNGR2_ENST00000225777.3_Silent_p.L114L|SYNGR2_ENST00000590201.1_Silent_p.L58L|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000585591.1_Silent_p.L114L|SYNGR2_ENST00000588282.1_Silent_p.L114L			O43760	SNG2_HUMAN	synaptogyrin 2	0	MARVEL.					integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			CCCCAGCTCTCTGGACCTTCC	0.637													34	71					0	0	0	0	T	76167595	C	T	76167595	3	4	68	1	0	0	0	0	1	0	0	0	15540	900	32	2	352	2	SYNGR2	17	76167595	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	1702245	76167595	5027615	134	13304											
SPIRE1	56907	broad.mit.edu	37	chr18	12453101	12453101	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaggtataagaccaagtgaAgaaggaaaacctcctggttc	16	7	10	8	0	0	3	0	1	0	2	2	4	1	4	3	3	1	2	3	3	7	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr18:12453101A>G	ENST00000409402.4	-	14	2080	c.1813T>C	c.(1813-1815)Ttc>Ctc	p.F605L	SPIRE1_ENST00000453447.2_Missense_Mutation_p.F471L|SPIRE1_ENST00000383356.2_Missense_Mutation_p.F432L|SPIRE1_ENST00000309836.5_Missense_Mutation_p.F394L|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Missense_Mutation_p.F591L	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	605						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GACCAAGTGAAGAAGGAAAAC	0.328													4	79					0	0	0	0	G	12453101	A	G	12453101	3	3	68	1	0	0	0	0	1	0	0	0	15161	72	3	5	473	5	SPIRE1	18	12453101	Missense_Mutation	SNP	A	TCGA-CN-4735-01A-01D-1434-08		12453101	65624147	135	13305											
NETO1	81832	broad.mit.edu	37	chr18	70461640	70461640	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtccttaaagtcaggatCttaaaaattgagaaaaagac	19	9	8	5	0	2	2	1	1	1	2	3	4	3	3	1	2	0	0	1	2	8	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr18:70461640C>G	ENST00000327305.6	-	5	1127		c.e5-1		NETO1_ENST00000299430.2_Splice_Site|NETO1_ENST00000583169.1_Splice_Site	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1						memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AAGTCAGGATCTTAAAAATTG	0.294													82	61					0	0	0	0	G	70461640	C	G	70461640	5	3	68	1	0	0	0	0	0	0	1	0	10409	927	32	2	1156	2	NETO1	18	70461640	Splice_Site	SNP	C	TCGA-CN-4735-01A-01D-1434-08	58008539	70461640	7615608	136	13306											
FBXO15	201456	broad.mit.edu	37	chr18	71797839	71797839	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctctactgaattaaatttCcaatttgatcttgcaggtga	11	17	6	7	0	2	3	0	3	2	0	4	3	3	3	1	1	2	1	1	1	5	6			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr18:71797839C>T	ENST00000269500.5	-	4	494	c.159G>A	c.(157-159)tgG>tgA	p.W53*	FBXO15_ENST00000419743.2_Nonsense_Mutation_p.W129*	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	53										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AATTAAATTTCCAATTTGATC	0.348													4	40					0	0	0	0	T	71797839	C	T	71797839	4	4	68	1	0	0	0	0	0	1	0	0	5773	856	30	2	1173	2	FBXO15	18	71797839	Nonsense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	1336199	71797839	6279409	137	13307											
TICAM1	148022	broad.mit.edu	37	chr19	4817884	4817884	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccagagggcaaagccGaggatggtgggaggcagccc	9	4	18	10	1	0	1	0	0	0	1	1	4	1	3	3	6	2	2	3	6	1	0			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr19:4817884G>T	ENST00000248244.5	-	2	735	c.506C>A	c.(505-507)tCg>tAg	p.S169*		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	169					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	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)		GGGCAAAGCCGAGGATGGTGG	0.652													7	176					0.00198382	0.00208346	1	0	T	4817884	G	T	4817884	4	4	68	1	0	0	0	0	0	1	0	0	15986	1059	37	3	1636	3	TICAM1	19	4817884	Nonsense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08		4817884	54311099	138	13308											
KANK2	25959	broad.mit.edu	37	chr19	11283762	11283762	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggtgagcataatagggctGtagccagcacggttctgttt	8	11	14	8	2	1	1	0	1	1	0	1	1	1	1	1	3	3	6	1	3	3	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr19:11283762G>A	ENST00000432929.2	-	10	2490	c.2130C>T	c.(2128-2130)taC>taT	p.Y710Y	KANK2_ENST00000589359.1_Silent_p.Y710Y|KANK2_ENST00000589894.1_Silent_p.Y702Y|KANK2_ENST00000355150.5_Silent_p.Y702Y|KANK2_ENST00000586659.1_Silent_p.Y702Y	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	702										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TAATAGGGCTGTAGCCAGCAC	0.567													77	110					0	0	0	0	A	11283762	G	A	11283762	2	1	68	1	0	0	0	0	0	0	0	1	8030	1372	48	4		4	KANK2	19	11283762	Silent	SNP	G	TCGA-CN-4735-01A-01D-1434-08	6465878	11283762	47845221	139	13309											
MAST1	22983	broad.mit.edu	37	chr19	12976159	12976159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagagtacatcgcgccCgaggtcatcctgcgtcaagg	9	6	11	15	4	2	1	2	0	0	1	4	2	3	1	4	2	2	1	4	2	2	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr19:12976159C>T	ENST00000251472.4	+	15	1707	c.1668C>T	c.(1666-1668)ccC>ccT	p.P556P		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	556	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACATCGCGCCCGAGGTCATCC	0.657													64	76					0	0	0	0	T	12976159	C	T	12976159	2	4	68	1	0	0	0	0	0	0	0	1	9393	639	23	1		1	MAST1	19	12976159	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08	1692397	12976159	46152824	140	13310											
ZNF253	56242	broad.mit.edu	37	chr19	20003119	20003119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcacctatcctcacacCttactacacataagatactt	12	13	1	15	0	2	1	2	0	0	1	3	1	3	1	4	0	3	0	4	0	5	7			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr19:20003119C>T	ENST00000589717.1	+	4	1155	c.1063C>T	c.(1063-1065)Ctt>Ttt	p.L355F	ZNF253_ENST00000355650.4_Missense_Mutation_p.L279F	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	355				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCCTCACACCTTACTACACA	0.388													41	45					0	0	0	0	T	20003119	C	T	20003119	3	4	68	1	0	0	0	0	1	0	0	0	17892	681	24	4	1077	4	ZNF253	19	20003119	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	7026960	20003119	39125864	141	13311											
ZNF714	148206	broad.mit.edu	37	chr19	21300358	21300358	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaaagcttttaaccgattCtcataccttactaaacataa	16	12	3	10	1	1	0	1	0	1	0	2	2	1	0	2	0	5	1	2	0	7	7			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr19:21300358C>T	ENST00000596143.1	+	5	1213	c.888C>T	c.(886-888)ttC>ttT	p.F296F	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TTAACCGATTCTCATACCTTA	0.348													3	17					0	0	0	0	T	21300358	C	T	21300358	2	4	68	1	0	0	0	0	0	0	0	1	18213	912	32	2		2	ZNF714	19	21300358	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08	1297239	21300358	37828625	142	13312											
ZNF208	7757	broad.mit.edu	37	chr19	22170088	22170088	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcctccagaaaaatgatCaggtctggcttaaaggcagc	12	9	9	11	0	2	2	1	1	1	1	4	2	4	2	3	3	1	2	3	3	4	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr19:22170088C>T	ENST00000397126.4	-	3	304	c.156G>A	c.(154-156)ctG>ctA	p.L52L	ZNF208_ENST00000601773.1_Silent_p.L52L|ZNF208_ENST00000599916.1_Silent_p.L52L|ZNF208_ENST00000597040.1_Silent_p.L20L	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAAAATGATCAGGTCTGGCT	0.398													29	69					0	0	0	0	T	22170088	C	T	22170088	2	4	68	1	0	0	0	0	0	0	0	1	17861	813	29	2		2	ZNF208	19	22170088	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08	869730	22170088	36958895	143	13313											
RELB	5971	broad.mit.edu	37	chr19	45528913	45528913	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacatgaatgtggtgaggatCtgcttccaggcctcatatcg	9	11	12	9	1	2	2	1	2	1	0	4	4	3	3	2	3	1	1	2	3	2	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr19:45528913C>T	ENST00000221452.8	+	7	954	c.804C>T	c.(802-804)atC>atT	p.I268I	RELB_ENST00000540120.1_Silent_p.I268I|RELB_ENST00000505236.1_Silent_p.I265I	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	268	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TGGTGAGGATCTGCTTCCAGG	0.567													93	141					0	0	0	0	T	45528913	C	T	45528913	2	4	68	1	0	0	0	0	0	0	0	1	13299	903	32	2		2	RELB	19	45528913	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08	23358825	45528913	13600070	144	13314											
TULP2	7288	broad.mit.edu	37	chr19	49398650	49398650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgcggtgtcgggaggcCgcgctcgcccctgccgtctc	1	8	15	17	7	1	0	0	0	1	0	5	1	2	1	5	3	1	1	5	3	0	0			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr19:49398650C>T	ENST00000221399.3	-	5	466	c.322G>A	c.(322-324)Ggc>Agc	p.G108S		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	108					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GTCGGGAGGCCGCGCTCGCCC	0.632													80	126					0	0	0	0	T	49398650	C	T	49398650	3	4	68	1	0	0	0	0	1	0	0	0	16870	652	23	1	1276	1	TULP2	19	49398650	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	3869737	49398650	9730333	145	13315											
CD33	945	broad.mit.edu	37	chr19	51742808	51742808	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagttacatggccccacTgaaacctcaagctgttcagg	11	9	8	13	0	2	1	2	1	0	0	3	1	3	1	4	2	3	3	4	2	4	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr19:51742808T>A	ENST00000262262.4	+	7	981	c.960T>A	c.(958-960)acT>acA	p.T320T	CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Silent_p.T193T	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	320					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	ATGGCCCCACTGAAACCTCAA	0.522													31	50					0	0	0	0	A	51742808	T	A	51742808	2	1	68	1	0	0	0	0	0	0	0	1	3034	1567	55	5		5	CD33	19	51742808	Silent	SNP	T	TCGA-CN-4735-01A-01D-1434-08	2344158	51742808	7386175	146	13316											
ZNF610	162963	broad.mit.edu	37	chr19	52856995	52856995	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggaggagtggaaatccctgGaccctggacagagggcttta	11	7	15	8	0	0	1	0	0	0	1	1	6	1	6	2	6	0	1	2	6	2	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr19:52856995G>C	ENST00000601151.1	+	4	576	c.124G>C	c.(124-126)Gac>Cac	p.D42H	ZNF610_ENST00000327920.8_Missense_Mutation_p.D42H|ZNF610_ENST00000321287.8_Missense_Mutation_p.D42H|ZNF610_ENST00000403906.3_Missense_Mutation_p.D42H	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D42Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GAAATCCCTGGACCCTGGACA	0.493													70	117					0	0	0	0	C	52856995	G	C	52856995	3	2	68	1	0	0	0	0	1	0	0	0	18131	1174	41	2	130	2	ZNF610	19	52856995	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	1114187	52856995	6271988	147	13317											
ZNF880	400713	broad.mit.edu	37	chr19	52887510	52887510	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcttcagtaacagttcaaAccttgtacaacatcaaagaa	16	10	6	9	0	4	1	3	0	1	1	4	1	4	1	1	1	4	3	1	1	6	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr19:52887510A>T	ENST00000422689.2	+	4	692	c.677A>T	c.(676-678)aAc>aTc	p.N226I		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	226					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AACAGTTCAAACCTTGTACAA	0.388													7	22					0	0	0	0	T	52887510	A	T	52887510	3	4	68	1	0	0	0	0	1	0	0	0	18290	43	2	5	691	5	ZNF880	19	52887510	Missense_Mutation	SNP	A	TCGA-CN-4735-01A-01D-1434-08	30515	52887510	6241473	148	13318											
MBOAT7	79143	broad.mit.edu	37	chr19	54692109	54692109	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcccaggtcccgaggatGgtgaccagagaatgcaaagt	12	5	15	9	1	0	2	0	1	0	1	1	5	1	3	3	4	1	1	3	4	2	0			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr19:54692109G>C	ENST00000431666.2	-	3	715	c.76C>G	c.(76-78)Cat>Gat	p.H26D	MBOAT7_ENST00000338624.6_Missense_Mutation_p.H26D|MBOAT7_ENST00000391754.1_Silent_p.T56T|MBOAT7_ENST00000245615.1_Silent_p.T56T|MBOAT7_ENST00000474910.1_5'UTR	NM_001146083.1	NP_001139555.1	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	0					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCCGAGGATGGTGACCAGAG	0.637													70	108					0	0	0	0	C	54692109	G	C	54692109	3	2	68	1	0	0	0	0	1	0	0	0	9427	1348	47	4	1278	4	MBOAT7	19	54692109	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	1804599	54692109	4436874	149	13319											
BRSK1	84446	broad.mit.edu	37	chr19	55805389	55805389	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggctgtctcagccacAgagacctaaagcccgagaac	12	5	9	15	1	1	2	1	0	1	2	2	4	1	2	4	1	3	1	4	1	3	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr19:55805389A>G	ENST00000309383.1	+	5	740	c.463A>G	c.(463-465)Aga>Gga	p.R155G	BRSK1_ENST00000590333.1_Missense_Mutation_p.R171G|BRSK1_ENST00000585418.1_Missense_Mutation_p.R155G	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	155	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCTCAGCCACAGAGACCTAAA	0.577													110	229					0	0	0	0	G	55805389	A	G	55805389	3	3	68	1	0	0	0	0	1	0	0	0	1531	180	7	5	481	5	BRSK1	19	55805389	Missense_Mutation	SNP	A	TCGA-CN-4735-01A-01D-1434-08	1113280	55805389	3323594	150	13320											
TRIB3	57761	broad.mit.edu	37	chr20	377164	377164	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtcgggagccagctgaaCggctcacagccacaggcatc	9	6	12	14	3	1	1	1	1	0	0	4	2	1	2	2	3	4	3	2	3	1	1	rs139447354		TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr20:377164C>A	ENST00000217233.3	+	4	1460	c.907C>A	c.(907-909)Cgg>Agg	p.R303R	TRIB3_ENST00000422053.2_Silent_p.R330R	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	303	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GCCAGCTGAACGGCTCACAGC	0.687													69	120					5.26073e-25	6.11094e-25	1	0	A	377164	C	A	377164	2	1	68	1	0	0	0	0	0	0	0	1	16579	527	19	3		3	TRIB3	20	377164	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08		377164	62648356	151	13321											
SNRPB	6628	broad.mit.edu	37	chr20	2443871	2443871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcttccttgtggggtcatCacctaagaggacataagaag	11	10	10	10	0	3	2	2	0	1	2	4	3	4	3	3	3	0	0	3	3	3	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr20:2443871C>T	ENST00000339610.6	-	6	641	c.186G>A	c.(184-186)gtG>gtA	p.V62V	SNRPB_ENST00000438552.2_Silent_p.V141V|SNRPB_ENST00000381342.2_Silent_p.V141V			P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	141					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						GTGGGGTCATCACCTAAGAGG	0.552													8	68					0	0	0	0	T	2443871	C	T	2443871	2	4	68	1	0	0	0	0	0	0	0	1	14949	813	29	2		2	SNRPB	20	2443871	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08	2066707	2443871	60581649	152	13322											
C20orf194	25943	broad.mit.edu	37	chr20	3297377	3297377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaatgacactaaccagccagGagcagaatctgggtacagca	15	5	11	10	0	1	2	0	1	1	1	1	4	1	3	2	2	5	3	2	2	4	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr20:3297377G>A	ENST00000252032.9	-	18	1599	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	C20orf194_ENST00000453730.2_Missense_Mutation_p.S249F	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	511										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AACCAGCCAGGAGCAGAATCT	0.527													21	42					0	0	0	0	A	3297377	G	A	3297377	3	1	68	1	0	0	0	0	1	0	0	0	2119	1174	41	2	2081	2	C20orf194	20	3297377	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	853506	3297377	59728143	153	13323											
ACTR5	79913	broad.mit.edu	37	chr20	37400305	37400305	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggatcaccaggaaagagtAtgaagaaaagggaggagagt	17	6	15	3	0	1	4	1	1	0	3	1	8	1	7	1	4	0	1	1	4	5	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr20:37400305A>T	ENST00000243903.4	+	9	1707	c.1670A>T	c.(1669-1671)tAt>tTt	p.Y557F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	557					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				AGGAAAGAGTATGAAGAAAAG	0.547													59	84					0	0	0	0	T	37400305	A	T	37400305	3	4	68	1	0	0	0	0	1	0	0	0	215	449	16	5	1704	5	ACTR5	20	37400305	Missense_Mutation	SNP	A	TCGA-CN-4735-01A-01D-1434-08	34102928	37400305	25625215	154	13324											
ZNF335	63925	broad.mit.edu	37	chr20	44581344	44581344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggctgcctctcctgcgggctCctcgctgtgggcatggagaa	4	9	15	13	2	1	1	0	0	1	1	4	2	2	1	3	4	2	4	3	4	1	0			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr20:44581344C>T	ENST00000322927.2	-	19	2807	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	ZNF335_ENST00000426788.1_Missense_Mutation_p.E748K	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	903					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCTGCGGGCTCCTCGCTGTGG	0.577													30	77					0	0	0	0	T	44581344	C	T	44581344	3	4	68	1	0	0	0	0	1	0	0	0	17947	864	30	2	1361	2	ZNF335	20	44581344	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	7181039	44581344	18444176	155	13325											
CD40	958	broad.mit.edu	37	chr20	44756820	44756820	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtggtgatccccatcatCttcgggatcctgtttgccat	5	14	10	12	1	2	1	1	1	1	0	5	2	4	2	4	3	1	1	4	3	0	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr20:44756820C>G	ENST00000372285.3	+	7	675	c.603C>G	c.(601-603)atC>atG	p.I201M	CD40_ENST00000372276.3_Missense_Mutation_p.L181V|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	201					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	TCCCCATCATCTTCGGGATCC	0.567									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	144					0	0	0	0	G	44756820	C	G	44756820	3	3	68	1	0	0	0	0	1	0	0	0	3044	913	32	2	629	2	CD40	20	44756820	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	175476	44756820	18268700	156	13326											
TMPRSS15	5651	broad.mit.edu	37	chr21	19651350	19651350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggaaaaacttgattttcttCcggtaaacaaataggttgta	15	13	8	5	1	1	1	0	1	1	0	2	2	2	2	1	3	2	3	1	3	7	8			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr21:19651350C>T	ENST00000284885.3	-	23	2728	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	899	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGATTTTCTTCCGGTAAACAA	0.323													32	62					0	0	0	0	T	19651350	C	T	19651350	3	4	68	1	0	0	0	0	1	0	0	0	16340	864	30	2	376	2	TMPRSS15	21	19651350	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08		19651350	28478545	157	13327											
ITSN1	6453	broad.mit.edu	37	chr21	35166729	35166729	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacagaaagaacaagaaCgaaagatcatagaattagaa	24	5	8	4	1	1	7	1	1	0	6	1	8	1	7	0	0	3	0	0	0	10	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr21:35166729C>G	ENST00000381318.3	+	17	2197	c.1909C>G	c.(1909-1911)Cga>Gga	p.R637G	ITSN1_ENST00000379960.5_Missense_Mutation_p.R637G|ITSN1_ENST00000381291.4_Missense_Mutation_p.R637G|ITSN1_ENST00000381285.4_Missense_Mutation_p.R637G|ITSN1_ENST00000399353.1_Missense_Mutation_p.R600G|ITSN1_ENST00000399326.3_Missense_Mutation_p.R637G|ITSN1_ENST00000399338.4_Missense_Mutation_p.R637G|ITSN1_ENST00000399367.3_Missense_Mutation_p.R637G|ITSN1_ENST00000399355.2_Missense_Mutation_p.R637G|ITSN1_ENST00000399349.1_Missense_Mutation_p.R637G|ITSN1_ENST00000437442.2_Missense_Mutation_p.R637G|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Missense_Mutation_p.R637G	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	637	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGAACAAGAACGAAAGATCAT	0.373													48	84					0	0	0	0	G	35166729	C	G	35166729	3	3	68	1	0	0	0	0	1	0	0	0	7979	528	19	3	1971	3	ITSN1	21	35166729	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	15515379	35166729	12963166	158	13328											
LCA5L	150082	broad.mit.edu	37	chr21	40778524	40778524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggacttccaaatgtttctCttcccctgataaatctatat	10	17	4	10	0	2	1	0	1	2	0	5	2	4	2	3	1	0	1	3	1	5	7			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr21:40778524C>T	ENST00000358268.2	-	10	1825	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000288350.3_Missense_Mutation_p.E433K|WRB_ENST00000541890.1_Missense_Mutation_p.S163F|LCA5L_ENST00000380671.2_Missense_Mutation_p.E433K			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	433										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				AAATGTTTCTCTTCCCCTGAT	0.333													59	132					0	0	0	0	T	40778524	C	T	40778524	3	4	68	1	0	0	0	0	1	0	0	0	8710	922	32	2	719	2	LCA5L	21	40778524	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	5611795	40778524	7351371	159	13329											
PCNT	5116	broad.mit.edu	37	chr21	47851584	47851584	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgaggccttgctggctcagGagcggagccagctctctgag	6	7	16	12	2	2	1	1	1	1	0	3	4	2	3	2	4	4	3	2	4	0	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr21:47851584G>T	ENST00000359568.5	+	38	8313	c.8206G>T	c.(8206-8208)Gag>Tag	p.E2736*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2736					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCTGGCTCAGGAGCGGAGCCA	0.637													18	53					1.56452e-12	1.69736e-12	1	0	T	47851584	G	T	47851584	4	4	68	1	0	0	0	0	0	1	0	0	11661	1175	41	2	8356	2	PCNT	21	47851584	Nonsense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	7073060	47851584	278311	160	13330											
PCNT	5116	broad.mit.edu	37	chr21	47852115	47852115	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggaggaagtggcagagaGacaaggagaagctggtgaga	15	4	19	3	0	0	4	0	1	0	4	0	9	0	6	0	5	1	2	0	5	3	0			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr21:47852115G>C	ENST00000359568.5	+	38	8844	c.8737G>C	c.(8737-8739)Gac>Cac	p.D2913H	PCNT_ENST00000480896.1_Intron	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2913					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGGCAGAGAGACAAGGAGAA	0.607													6	7					0	0	0	0	C	47852115	G	C	47852115	3	2	68	1	0	0	0	0	1	0	0	0	11661	942	33	2	8887	2	PCNT	21	47852115	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	531	47852115	277780	161	13331											
MICAL3	57553	broad.mit.edu	37	chr22	18364059	18364059	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaggtccgagaacactccTtttcccgttgcttttacacc	7	12	8	14	2	0	1	0	0	0	1	3	2	3	1	4	2	3	3	4	2	2	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr22:18364059T>C	ENST00000429452.1	-	17	2604	c.2252A>G	c.(2251-2253)aAg>aGg	p.K751R	MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.K751R|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000207726.7_Intron	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	751						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGAACACTCCTTTTCCCGTTG	0.537													80	129					0	0	0	0	C	18364059	T	C	18364059	3	2	68	1	0	0	0	0	1	0	0	0	9640	1609	56	5	4557	5	MICAL3	22	18364059	Missense_Mutation	SNP	T	TCGA-CN-4735-01A-01D-1434-08		18364059	32940507	162	13332											
ISX	91464	broad.mit.edu	37	chr22	35481475	35481475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggacatccactgctctgcGcaggctggctcctcccacga	6	8	11	16	2	1	0	0	0	1	0	4	2	4	1	3	3	2	4	3	3	0	0			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr22:35481475G>A	ENST00000308700.6	+	4	1479	c.527G>A	c.(526-528)cGc>cAc	p.R176H	ISX_ENST00000404699.2_Missense_Mutation_p.R176H	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	176						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						ACTGCTCTGCGCAGGCTGGCT	0.617													5	261					0	0	0	0	A	35481475	G	A	35481475	3	1	68	1	0	0	0	0	1	0	0	0	7918	1087	38	1	541	1	ISX	22	35481475	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	17117416	35481475	15823091	163	13333											
TNRC6B	23112	broad.mit.edu	37	chr22	40697290	40697290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acccaacgcattgaatgtggGgctcccagaccttcaaacca	12	7	8	14	1	1	2	1	1	0	1	2	2	2	2	4	2	2	2	4	2	3	2			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr22:40697290G>A	ENST00000454349.2	+	15	4284	c.4073G>A	c.(4072-4074)gGg>gAg	p.G1358E	TNRC6B_ENST00000301923.9_Missense_Mutation_p.G554E|TNRC6B_ENST00000402203.1_Missense_Mutation_p.G554E|TNRC6B_ENST00000335727.8_Missense_Mutation_p.G1248E	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1358					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						TTGAATGTGGGGCTCCCAGAC	0.512													12	17					0	0	0	0	A	40697290	G	A	40697290	3	1	68	1	0	0	0	0	1	0	0	0	16435	1232	43	4	4252	4	TNRC6B	22	40697290	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	5215815	40697290	10607276	164	13334											
TCF20	6942	broad.mit.edu	37	chr22	42610152	42610152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccagtctgcatgagaggaGatggggtagaactacagctt	11	8	13	9	0	1	3	0	1	1	3	1	5	1	3	2	3	4	3	2	3	3	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chr22:42610152G>A	ENST00000359486.3	-	1	1296	c.1160C>T	c.(1159-1161)tCt>tTt	p.S387F	TCF20_ENST00000335626.4_Missense_Mutation_p.S387F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CATGAGAGGAGATGGGGTAGA	0.512													62	147					0	0	0	0	A	42610152	G	A	42610152	3	1	68	1	0	0	0	0	1	0	0	0	15784	942	33	2	4760	2	TCF20	22	42610152	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	1912862	42610152	8694414	165	13335											
NLGN4X	57502	broad.mit.edu	37	chrX	5821254	5821254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataggggacctcatcaccatGggccgaatctgcccagctgg	9	7	12	13	1	3	0	2	0	1	0	3	2	3	1	4	4	2	1	4	4	2	1			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chrX:5821254G>T	ENST00000381095.3	-	5	2092	c.1465C>A	c.(1465-1467)Cat>Aat	p.H489N	NLGN4X_ENST00000275857.6_Missense_Mutation_p.H489N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.H489N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.H489N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.H509N	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	489					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCATCACCATGGGCCGAATCT	0.572													51	16					2.14255e-21	2.45167e-21	1	0	T	5821254	G	T	5821254	3	4	68	1	0	0	0	0	1	0	0	0	10534	1348	47	4	993	4	NLGN4X	23	5821254	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08		5821254	149449306	166	13336											
FAM47C	442444	broad.mit.edu	37	chrX	37028587	37028587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagactggagtgtcccgtCtccacccagagcctcccaag	8	7	10	16	1	1	2	0	1	1	2	4	4	3	3	5	1	1	0	5	1	1	0			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chrX:37028587C>T	ENST00000358047.3	+	1	2156	c.2104C>T	c.(2104-2106)Ctc>Ttc	p.L702F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	702								p.L702F(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTGTCCCGTCTCCACCCAGA	0.642													61	33					0	0	0	0	T	37028587	C	T	37028587	3	4	68	1	0	0	0	0	1	0	0	0	5618	913	32	2	2106	2	FAM47C	23	37028587	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	31207333	37028587	118241973	167	13337											
DUSP21	63904	broad.mit.edu	37	chrX	44703874	44703874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtttaataacaacaccGtgcgcatgatcaactcgccg	12	9	8	12	4	1	1	1	1	0	0	2	1	1	1	2	0	5	3	2	0	4	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chrX:44703874G>T	ENST00000339042.4	+	1	626	c.496G>T	c.(496-498)Gtg>Ttg	p.V166L		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	166						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TAACAACACCGTGCGCATGAT	0.507													37	19					7.53189e-24	8.7052e-24	1	0	T	44703874	G	T	44703874	3	4	68	1	0	0	0	0	1	0	0	0	4856	1145	40	3	498	3	DUSP21	23	44703874	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	7675287	44703874	110566686	168	13338											
TBX22	50945	broad.mit.edu	37	chrX	79281105	79281105	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcatgtgttttttcaggtaCgtctatcacagctcacagtg	9	14	9	9	1	4	0	3	0	1	0	4	0	4	0	0	1	3	4	0	1	2	5			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chrX:79281105C>T	ENST00000442340.1	+	5	592	c.102C>T	c.(100-102)taC>taT	p.Y34Y	TBX22_ENST00000373296.3_Silent_p.Y154Y|TBX22_ENST00000373294.5_Silent_p.Y154Y|TBX22_ENST00000373291.1_Silent_p.Y34Y	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	154					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Y154*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTTTCAGGTACGTCTATCACA	0.502													25	23					0	0	0	0	T	79281105	C	T	79281105	2	4	68	1	0	0	0	0	0	0	0	1	15752	547	19	1		1	TBX22	23	79281105	Silent	SNP	C	TCGA-CN-4735-01A-01D-1434-08	34577231	79281105	75989455	169	13339											
PABPC5	140886	broad.mit.edu	37	chrX	90690655	90690655	+	Missense_Mutation	SNP	C	C	A																															tgtacgtgggtgacttggacCcagatgtcaccgaggacatg																										TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chrX:90690655C>A	ENST00000312600.3	+	2	293	c.79C>A	c.(79-81)Cca>Aca	p.P27T	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	27	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TGACTTGGACCCAGATGTCAC	0.592													21	7					0.000132079	0.00014064	1	0	A	90690655	C	A	90690655	3	1	68	1	0	0	0	0	1	0	0	0	11438	623	22	4	81	4	PABPC5	23	90690655	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	11409550	90690655	64579905	170	13340	118	2									
PABPC5	140886	broad.mit.edu	37	chrX	90690656	90690656	+	Missense_Mutation	SNP	C	C	A																															gtacgtgggtgacttggaccCagatgtcaccgaggacatgc																										TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chrX:90690656C>A	ENST00000312600.3	+	2	294	c.80C>A	c.(79-81)cCa>cAa	p.P27Q	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	27	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GACTTGGACCCAGATGTCACC	0.592													21	7					0.000132079	0.00014064	1	0	A	90690656	C	A	90690656	3	1	68	1	0	0	0	0	1	0	0	0	11438	594	21	4	82	4	PABPC5	23	90690656	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	1	90690656	64579904	171	13341	118	2									
CNGA2	1260	broad.mit.edu	37	chrX	150911736	150911736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaccgcctgctgcactttgCccgcatgtttgagttctttg	5	14	9	13	2	1	1	0	1	1	0	1	1	1	1	3	0	4	5	3	0	1	4			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chrX:150911736C>T	ENST00000329903.4	+	6	794	c.761C>T	c.(760-762)gCc>gTc	p.A254V		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	254					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCACTTTGCCCGCATGTTT	0.522													4	126					0	0	0	0	T	150911736	C	T	150911736	3	4	68	1	0	0	0	0	1	0	0	0	3627	739	26	4	783	4	CNGA2	23	150911736	Missense_Mutation	SNP	C	TCGA-CN-4735-01A-01D-1434-08	60221080	150911736	4358824	172	13342											
RPL10	6134	broad.mit.edu	37	chrX	153628938	153628938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgattgaggccctgcgcaggGccaagttcaagtttcctggc	7	10	13	11	1	1	2	1	2	0	0	2	2	2	2	3	3	1	3	3	3	2	3			TCGA-CN-4735-01A-01D-1434-08	TCGA-CN-4735-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	369ebdf4-ee27-414d-978d-3698711fae98	e30d9a49-8c83-4451-93ac-fd99ae71b265	g.chrX:153628938G>A	ENST00000424325.2	+	6	651	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	RPL10_ENST00000406022.2_Missense_Mutation_p.A104T|RPL10_ENST00000369817.2_Missense_Mutation_p.A155T	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	155					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGCGCAGGGCCAAGTTCAA	0.582													4	114					0	0	0	0	A	153628938	G	A	153628938	3	1	68	1	0	0	0	0	1	0	0	0	13639	1203	42	4	481	4	RPL10	23	153628938	Missense_Mutation	SNP	G	TCGA-CN-4735-01A-01D-1434-08	2717202	153628938	1641622	173	13343											
EPHA10	284656	broad.mit.edu	37	chr1	38184465	38184465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaaggtggagaaggcaCggtccgctagtggggtggga	9	5	22	5	2	0	1	0	0	0	1	1	4	1	3	1	9	0	2	1	9	3	1			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:38184465C>T	ENST00000373048.4	-	16	2779	c.2780G>A	c.(2779-2781)cGt>cAt	p.R927H	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.R927H|EPHA10_ENST00000330210.7_Missense_Mutation_p.R422H|EPHA10_ENST00000540011.1_3'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	927						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)				GGAGAAGGCACGGTCCGCTAG	0.677													8	26					0	0	0	0	T	38184465	C	T	38184465	3	4	69	1	0	0	0	0	1	0	0	0	5204	536	19	1	254	1	EPHA10	1	38184465	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08		38184465	211066156	1	13344											
MACF1	23499	broad.mit.edu	37	chr1	39905138	39905138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagcccaggcattgatcCttccatcatcaaacaacagg	14	7	8	12	0	2	1	2	1	0	0	4	2	4	2	3	3	3	1	3	3	3	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:39905138C>T	ENST00000564288.1	+	72	19190	c.18413C>T	c.(18412-18414)cCt>cTt	p.P6138L	MACF1_ENST00000289893.4_Missense_Mutation_p.P4581L|MACF1_ENST00000361689.2_Missense_Mutation_p.P4079L|MACF1_ENST00000567887.1_Missense_Mutation_p.P6175L|MACF1_ENST00000545844.1_Missense_Mutation_p.P4079L|MACF1_ENST00000372915.3_Missense_Mutation_p.P6037L|MACF1_ENST00000317713.7_Missense_Mutation_p.P4079L|MACF1_ENST00000539005.1_Missense_Mutation_p.P3949L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6146					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCATTGATCCTTCCATCATC	0.433													9	62					0	0	0	0	T	39905138	C	T	39905138	3	4	69	1	0	0	0	0	1	0	0	0	9209	681	24	4	18657	4	MACF1	1	39905138	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	1720673	39905138	209345483	2	13345											
PTPRF	5792	broad.mit.edu	37	chr1	44075146	44075146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaccctgtggagatgcGgaggctcaactaccagaccc	9	7	11	14	1	2	3	1	1	1	2	2	5	2	4	3	3	3	1	3	3	2	1			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:44075146G>A	ENST00000359947.4	+	22	4290	c.3950G>A	c.(3949-3951)cGg>cAg	p.R1317Q	PTPRF_ENST00000372414.3_Missense_Mutation_p.R1317Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1308Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.R665Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1308Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1317					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGGAGATGCGGAGGCTCAAC	0.602													3	42					0	0	0	0	A	44075146	G	A	44075146	3	1	69	1	0	0	0	0	1	0	0	0	12883	1116	39	1	4028	1	PTPRF	1	44075146	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	4170008	44075146	205175475	3	13346											
ELAVL4	1996	broad.mit.edu	37	chr1	50659453	50659453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggtctcatatgcccgtcCgagctctgcctcaatcaggg	7	10	10	14	2	4	0	3	0	2	0	6	1	5	0	3	2	3	1	3	2	3	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:50659453C>T	ENST00000371824.1	+	4	628	c.371C>T	c.(370-372)cCg>cTg	p.P124L	ELAVL4_ENST00000371827.1_Missense_Mutation_p.P124L|ELAVL4_ENST00000371819.1_Missense_Mutation_p.P129L|ELAVL4_ENST00000357083.4_Missense_Mutation_p.P141L|ELAVL4_ENST00000371823.4_Missense_Mutation_p.P124L|ELAVL4_ENST00000371821.1_Missense_Mutation_p.P129L|ELAVL4_ENST00000448907.2_Missense_Mutation_p.P127L			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	124	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TATGCCCGTCCGAGCTCTGCC	0.507													20	113					0	0	0	0	T	50659453	C	T	50659453	3	4	69	1	0	0	0	0	1	0	0	0	5090	652	23	1	484	1	ELAVL4	1	50659453	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	6584307	50659453	198591168	4	13347											
HOOK1	51361	broad.mit.edu	37	chr1	60309254	60309254	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattacaactagaacaattaCaggaagaaaacttcaggtag	20	8	7	6	0	1	2	1	0	0	2	1	3	1	3	0	2	5	1	0	2	11	5			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:60309254C>T	ENST00000371208.3	+	9	1029	c.772C>T	c.(772-774)Cag>Tag	p.Q258*	HOOK1_ENST00000395561.2_Nonsense_Mutation_p.Q216*|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	258	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AGAACAATTACAGGAAGAAAA	0.328													6	60					0	0	0	0	T	60309254	C	T	60309254	4	4	69	1	0	0	0	0	0	1	0	0	7332	479	17	4	806	4	HOOK1	1	60309254	Nonsense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	9649801	60309254	188941367	5	13348											
MTMR11	10903	broad.mit.edu	37	chr1	149902780	149902780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagagcaagaaggaaaaaCtcagagaattcaaaatcagc	21	5	9	6	0	3	4	3	1	0	3	3	6	3	5	0	1	3	1	0	1	8	1			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:149902780C>T	ENST00000361405.6	-	8	1011	c.761G>A	c.(760-762)aGt>aAt	p.S254N	MTMR11_ENST00000439741.2_Silent_p.E456E|MTMR11_ENST00000369140.3_Silent_p.E384E|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR			A4FU01	MTMRB_HUMAN	myotubularin related protein 11	0	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GAAGGAAAAACTCAGAGAATT	0.498													4	86					0	0	0	0	T	149902780	C	T	149902780	3	4	69	1	0	0	0	0	1	0	0	0	10010	564	20	4	816	4	MTMR11	1	149902780	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	89593526	149902780	99347841	6	13349											
TCHH	7062	broad.mit.edu	37	chr1	152081483	152081495	+	Frame_Shift_Del	DEL	GCTCCTGGCAGCG	GCTCCTGGCAGCG	-																															ctgacgcagctgttgctcgcGctcctggcagcgcagctgct																										TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:152081483_152081495delGCTCCTGGCAGCG	ENST00000368804.1	-	2	4197_4209	c.4198_4210delCGCTGCCAGGAGC	c.(4198-4212)gcfs	p.RCQER1400fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1400	23 X 26 AA approximate tandem repeats.		R -> P (found in a renal cell carcinoma sample; somatic mutation).		keratinization	cytoskeleton	calcium ion binding	p.R1400P(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTGCTCGCGCTCCTGGCAGCGCAGCTGCTGT	0.577													17	95	---	---	---	---					-	152081495	GCTCCTGGCAGCG	-	152081483	7	5	69	1	0	1	0	1	0	0	0	0	15794	1087	38	0	1625	0	TCHH	1	152081483	Frame_Shift_Del	DEL	GCTCCTGGCAGCG	TCGA-CN-4736-01A-01D-1434-08	2178703	152081483	97169138	7	13350											
OR6K2	81448	broad.mit.edu	37	chr1	158670019	158670019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcaacttaaagtcagttGggtacatagcttgggggtca	12	10	12	7	0	2	0	2	0	0	0	2	0	2	0	0	3	4	4	0	3	5	5			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:158670019G>T	ENST00000359610.2	-	1	467	c.424C>A	c.(424-426)Caa>Aaa	p.Q142K		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAAGTCAGTTGGGTACATAGC	0.473													8	60					3.09899e-07	3.69296e-07	1	0	T	158670019	G	T	158670019	3	4	69	1	0	0	0	0	1	0	0	0	11273	1357	47	4	554	4	OR6K2	1	158670019	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	6588536	158670019	90580602	8	13351											
USF1	7391	broad.mit.edu	37	chr1	161011574	161011574	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaagtaagtatagtgcgtCtcagcagctgtcccctccgt	8	10	12	11	2	1	0	1	0	1	0	4	1	3	1	3	1	3	4	3	1	4	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:161011574C>T	ENST00000368021.3	-	6	543	c.339G>A	c.(337-339)gaG>gaA	p.E113E	USF1_ENST00000435396.1_Silent_p.E54E|USF1_ENST00000368019.1_Silent_p.E113E|USF1_ENST00000368020.1_Silent_p.E113E	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	113					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TATAGTGCGTCTCAGCAGCTG	0.567											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	83					0	0	0	0	T	161011574	C	T	161011574	2	4	69	1	0	0	0	0	0	0	0	1	17128	912	32	2		2	USF1	1	161011574	Silent	SNP	C	TCGA-CN-4736-01A-01D-1434-08	2341555	161011574	88239047	9	13352											
SOX13	9580	broad.mit.edu	37	chr1	204085665	204085665	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctagcagagaaggagcTccagcttctggtcatgattc	10	9	12	10	0	2	2	1	1	1	1	4	5	3	3	2	2	4	3	2	2	2	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:204085665T>C	ENST00000367204.1	+	5	558	c.449T>C	c.(448-450)cTc>cCc	p.L150P	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	150					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGAAGGAGCTCCAGCTTCTG	0.522													19	77					0	0	0	0	C	204085665	T	C	204085665	3	2	69	1	0	0	0	0	1	0	0	0	15032	1551	54	5	463	5	SOX13	1	204085665	Missense_Mutation	SNP	T	TCGA-CN-4736-01A-01D-1434-08	43074091	204085665	45164956	10	13353											
USH2A	7399	broad.mit.edu	37	chr1	215802185	215802185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgtggcccatgatggcttCccacagtgagttgtccatca	7	12	11	11	0	1	2	1	2	0	0	3	2	3	2	3	2	0	3	3	2	0	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:215802185C>T	ENST00000366943.2	-	72	15948	c.15562G>A	c.(15562-15564)Gaa>Aaa	p.E5188K	USH2A_ENST00000307340.3_Missense_Mutation_p.E5164K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5164					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGATGGCTTCCCACAGTGAG	0.493										HNSCC(13;0.011)			9	104					0	0	0	0	T	215802185	C	T	215802185	3	4	69	1	0	0	0	0	1	0	0	0	17132	864	30	2	126	2	USH2A	1	215802185	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	11716520	215802185	33448436	11	13354											
SNTG2	54221	broad.mit.edu	37	chr2	1263157	1263157	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtgagcacattcgatTgggtgcgagcagaaaggacc	11	7	15	8	2	0	2	0	1	0	1	1	5	0	3	1	3	4	3	1	3	1	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:1263157T>G	ENST00000308624.5	+	13	1150	c.1021T>G	c.(1021-1023)Tgg>Ggg	p.W341G	SNTG2_ENST00000407292.1_Missense_Mutation_p.W214G	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	341	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CACATTCGATTGGGTGCGAGC	0.383													12	92					0	0	0	0	G	1263157	T	G	1263157	3	3	69	1	0	0	0	0	1	0	0	0	14963	1812	63	5	1071	5	SNTG2	2	1263157	Missense_Mutation	SNP	T	TCGA-CN-4736-01A-01D-1434-08		1263157	241936216	12	13355											
KCNH7	90134	broad.mit.edu	37	chr2	163374452	163374452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtccggatatattcaccaagGgagaacatttgctgggctgt	10	11	12	8	1	1	1	1	0	0	1	2	3	2	2	2	3	2	2	2	3	4	4			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:163374452G>A	ENST00000332142.5	-	4	779	c.680C>T	c.(679-681)cCc>cTc	p.P227L	KCNH7_ENST00000328032.4_Missense_Mutation_p.P227L|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	227					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATTCACCAAGGGAGAACATTT	0.483													11	134					0	0	0	0	A	163374452	G	A	163374452	3	1	69	1	0	0	0	0	1	0	0	0	8090	1232	43	4	3028	4	KCNH7	2	163374452	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	162111295	163374452	79824921	13	13356											
FIGN	55137	broad.mit.edu	37	chr2	164467456	164467456	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtcaaaccatggccctGgtaggtgtagccaggaacag	11	7	14	9	0	1	0	1	0	0	0	1	1	1	1	3	5	3	2	3	5	4	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:164467456G>A	ENST00000333129.3	-	3	1200	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	296						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCATGGCCCTGGTAGGTGTAG	0.577													8	78					0	0	0	0	A	164467456	G	A	164467456	4	1	69	1	0	0	0	0	0	1	0	0	5936	1357	47	4	1397	4	FIGN	2	164467456	Nonsense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	1093004	164467456	78731917	14	13357											
SCN9A	6335	broad.mit.edu	37	chr2	167055551	167055551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaggatttgcagacatgaaCctttcttccatctgtgaacg	11	12	9	9	1	2	3	0	2	2	1	3	5	3	4	2	1	3	1	2	1	3	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:167055551C>A	ENST00000375387.4	-	27	5941	c.5601G>T	c.(5599-5601)agG>agT	p.R1867S	SCN9A_ENST00000409672.1_Missense_Mutation_p.R1855S|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1866S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1867S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1866						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGACATGAACCTTTCTTCCA	0.443													13	117					0.00136819	0.00150501	1	0	A	167055551	C	A	167055551	3	1	69	1	0	0	0	0	1	0	0	0	14012	506	18	4	372	4	SCN9A	2	167055551	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	2588095	167055551	76143822	15	13358											
TTN	7273	broad.mit.edu	37	chr2	179435645	179435645	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatatctgtgatcttcaaCtaggccagttacttcaaaat	12	14	5	10	0	5	1	3	1	2	0	5	1	5	1	1	1	2	1	1	1	6	5			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:179435645C>G	ENST00000589042.1	-	326	75438	c.75214G>C	c.(75214-75216)Gtt>Ctt	p.V25072L	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V22504L|TTN_ENST00000342175.6_Missense_Mutation_p.V16199L|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16132L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V23431L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16007L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23431	Fibronectin type-III 82.						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)			TGATCTTCAACTAGGCCAGTT	0.418													37	158					0	0	0	0	G	179435645	C	G	179435645	3	3	69	1	0	0	0	0	1	0	0	0	16831	565	20	4	32913	4	TTN	2	179435645	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	12380094	179435645	63763728	16	13359											
FSIP2	401024	broad.mit.edu	37	chr2	186670435	186670435	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttggaaataaatagaggtAcaatgaatagaaagaaaagt	21	9	9	2	0	0	4	0	1	0	3	0	5	0	5	0	2	1	1	0	2	11	5			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:186670435A>G	ENST00000343098.5	+	17	16669	c.16669A>G	c.(16669-16671)Aca>Gca	p.T5557A	FSIP2_ENST00000424728.1_Missense_Mutation_p.T5468A	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAATAGAGGTACAATGAATAG	0.323													6	59					0	0	0	0	G	186670435	A	G	186670435	3	3	69	1	0	0	0	0	1	0	0	0	6123	391	14	5	16735	5	FSIP2	2	186670435	Missense_Mutation	SNP	A	TCGA-CN-4736-01A-01D-1434-08	7234790	186670435	56528938	17	13360											
NRP2	8828	broad.mit.edu	37	chr2	206628571	206628571	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggaagccagccaggagAgcaagttgctgtgggtcatc	9	7	16	9	1	1	1	1	0	0	1	2	3	1	2	2	3	5	3	2	3	2	1			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:206628571A>G	ENST00000360409.3	+	13	3009	c.2218A>G	c.(2218-2220)Agc>Ggc	p.S740G	NRP2_ENST00000412873.2_Missense_Mutation_p.S740G|AC007362.3_ENST00000598710.1_RNA|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000357118.4_Missense_Mutation_p.S740G|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000540841.1_Missense_Mutation_p.S740G|NRP2_ENST00000357785.5_Missense_Mutation_p.S740G|NRP2_ENST00000540178.1_Missense_Mutation_p.S740G|NRP2_ENST00000272849.3_Missense_Mutation_p.S740G|NRP2_ENST00000485684.1_3'UTR	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	740	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAGCCAGGAGAGCAAGTTGCT	0.677											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	69					0	0	0	0	G	206628571	A	G	206628571	3	3	69	1	0	0	0	0	1	0	0	0	10732	304	11	5	2295	5	NRP2	2	206628571	Missense_Mutation	SNP	A	TCGA-CN-4736-01A-01D-1434-08	19958136	206628571	36570802	18	13361											
PTPRN	5798	broad.mit.edu	37	chr2	220162103	220162103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgtgaaggctccggtggaCcctctgcccggttgaacaag	7	7	13	14	3	1	2	0	2	1	0	2	3	2	3	4	4	2	2	4	4	3	1			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:220162103C>T	ENST00000295718.2	-	14	2180	c.1940G>A	c.(1939-1941)gGt>gAt	p.G647D	PTPRN_ENST00000409251.3_Missense_Mutation_p.G618D|PTPRN_ENST00000423636.2_Missense_Mutation_p.G557D	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	647					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTCCGGTGGACCCTCTGCCCG	0.632													12	71					0	0	0	0	T	220162103	C	T	220162103	3	4	69	1	0	0	0	0	1	0	0	0	12889	507	18	4	1039	4	PTPRN	2	220162103	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	13533532	220162103	23037270	19	13362											
EPHA4	2043	broad.mit.edu	37	chr2	222429107	222429107	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatccatgatactcactTcctcccactgcaaagatcca	11	12	3	15	0	2	2	2	1	0	1	6	2	6	2	4	0	2	1	4	0	2	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:222429107T>G	ENST00000281821.2	-	3	208	c.167A>C	c.(166-168)gAa>gCa	p.E56A	EPHA4_ENST00000392071.4_Missense_Mutation_p.E5A|EPHA4_ENST00000409854.1_Missense_Mutation_p.E56A|EPHA4_ENST00000409938.1_Missense_Mutation_p.E56A	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	56						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)		GATACTCACTTCCTCCCACTG	0.403													30	118					0	0	0	0	G	222429107	T	G	222429107	3	3	69	1	0	0	0	0	1	0	0	0	5207	1783	62	5	2853	5	EPHA4	2	222429107	Missense_Mutation	SNP	T	TCGA-CN-4736-01A-01D-1434-08	2267004	222429107	20770266	20	13363											
TRANK1	9881	broad.mit.edu	37	chr3	36899181	36899181	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaccctgggacttgagctGagatgtgtgaccaggggcag	9	8	16	8	0	0	4	0	4	0	1	0	6	0	5	2	3	2	2	2	3	1	1			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:36899181G>A	ENST00000429976.2	-	12	2147	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	TRANK1_ENST00000428977.2_Nonsense_Mutation_p.Q84*|TRANK1_ENST00000301807.6_Nonsense_Mutation_p.Q84*			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	634					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GACTTGAGCTGAGATGTGTGA	0.582													23	102					0	0	0	0	A	36899181	G	A	36899181	4	1	69	1	0	0	0	0	0	1	0	0	16549	1299	45	2	6925	2	TRANK1	3	36899181	Nonsense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08		36899181	161123249	21	13364											
ITGA9	3680	broad.mit.edu	37	chr3	37818922	37818922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actgctctttccagaaaaacCcaactccctgcatcatccct	11	10	3	17	0	2	1	1	0	1	1	5	1	5	1	4	0	4	2	4	0	3	1			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:37818922C>T	ENST00000264741.5	+	24	2837	c.2581C>T	c.(2581-2583)Cca>Tca	p.P861S	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	861					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CCAGAAAAACCCAACTCCCTG	0.413													8	49					0	0	0	0	T	37818922	C	T	37818922	3	4	69	1	0	0	0	0	1	0	0	0	7936	623	22	4	2675	4	ITGA9	3	37818922	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	919741	37818922	160203508	22	13365											
SCN10A	6336	broad.mit.edu	37	chr3	38793780	38793780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcatcttctccatgcctgGagtcagggttgctgggttga	5	14	13	9	0	4	1	2	1	2	0	5	2	4	2	2	3	2	4	2	3	0	4			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:38793780G>T	ENST00000449082.2	-	11	1684	c.1685C>A	c.(1684-1686)tCc>tAc	p.S562Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	562					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCCATGCCTGGAGTCAGGGTT	0.607													24	76					7.07758e-08	8.57707e-08	1	0	T	38793780	G	T	38793780	3	4	69	1	0	0	0	0	1	0	0	0	13999	1174	41	2	4253	2	SCN10A	3	38793780	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	974858	38793780	159228650	23	13366											
CRYBG3	131544	broad.mit.edu	37	chr3	97662106	97662106	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagactcatgtaattgtaaAtcagcccctggagggagaag	14	8	11	8	0	2	2	2	0	0	2	2	4	2	3	2	2	1	2	2	2	5	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:97662106A>G	ENST00000182096.4	+	19	3081	c.3017A>G	c.(3016-3018)aAt>aGt	p.N1006S	CRYBG3_ENST00000389622.2_Missense_Mutation_p.N213S|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GTAATTGTAAATCAGCCCCTG	0.358													17	41					0	0	0	0	G	97662106	A	G	97662106	3	3	69	1	0	0	0	0	1	0	0	0	3943	101	4	5	3091	5	CRYBG3	3	97662106	Missense_Mutation	SNP	A	TCGA-CN-4736-01A-01D-1434-08	58868326	97662106	100360324	24	13367											
SLC7A14	57709	broad.mit.edu	37	chr3	170198588	170198588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtctgatttccctatgaGcatctcattgtctcccaagg	7	15	7	12	0	3	2	1	2	3	0	6	2	4	2	2	1	1	1	2	1	2	4			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:170198588G>T	ENST00000231706.4	-	7	1798	c.1483C>A	c.(1483-1485)Ctc>Atc	p.L495I	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	495						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TTCCCTATGAGCATCTCATTG	0.498													38	257					2.05212e-20	2.57415e-20	1	0	T	170198588	G	T	170198588	3	4	69	1	0	0	0	0	1	0	0	0	14784	971	34	4	840	4	SLC7A14	3	170198588	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	72536482	170198588	27823842	25	13368											
SEL1L3	23231	broad.mit.edu	37	chr4	25783863	25783863	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctcaagtcctactcaCttgattccttccaggaactc	8	13	7	13	0	2	1	2	1	1	0	7	2	5	2	3	2	2	0	3	2	3	4			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr4:25783863C>T	ENST00000399878.3	-	15	2580		c.e15+1		SEL1L3_ENST00000502949.1_Splice_Site|SEL1L3_ENST00000264868.5_Splice_Site	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)							integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GTCCTACTCACTTGATTCCTT	0.483													34	167					0	0	0	0	T	25783863	C	T	25783863	5	4	69	1	0	0	0	0	0	0	1	0	14099	579	20	4	980	4	SEL1L3	4	25783863	Splice_Site	SNP	C	TCGA-CN-4736-01A-01D-1434-08		25783863	165370413	26	13369											
TBCK	93627	broad.mit.edu	37	chr4	107156504	107156504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgcttctttccagatttgGttttttttatatggataagc	7	21	7	6	0	1	1	0	0	1	1	2	2	2	2	1	2	2	2	1	2	3	10			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr4:107156504G>T	ENST00000273980.4	-	16	1818	c.1371C>A	c.(1369-1371)aaC>aaA	p.N457K	TBCK_ENST00000394706.3_Missense_Mutation_p.N418K|TBCK_ENST00000394708.2_Missense_Mutation_p.N457K|TBCK_ENST00000361687.4_Missense_Mutation_p.N394K|TBCK_ENST00000432496.2_Missense_Mutation_p.N457K			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	457						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TCCAGATTTGGTTTTTTTTAT	0.363													3	27					0.115264	0.121197	1	0	T	107156504	G	T	107156504	3	4	69	1	0	0	0	0	1	0	0	0	15730	1252	44	4	1358	4	TBCK	4	107156504	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	81372641	107156504	83997772	27	13370											
TERT	7015	broad.mit.edu	37	chr5	1294259	1294259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctgcccaacgggcgtccGctccggctcaggggcagcgc	4	4	14	19	5	1	0	1	0	0	0	3	0	3	0	5	4	3	3	5	4	1	0			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:1294259G>A	ENST00000310581.5	-	2	799	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TERT_ENST00000334602.6_Missense_Mutation_p.R248W|TERT_ENST00000296820.5_Missense_Mutation_p.R248W|TERT_ENST00000508104.2_Missense_Mutation_p.R248W	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	248	Linker.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|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)			ACGGGCGTCCGCTCCGGCTCA	0.736									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				3	8					0	0	0	0	A	1294259	G	A	1294259	3	1	69	1	0	0	0	0	1	0	0	0	15858	1086	38	1	2716	1	TERT	5	1294259	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08		1294259	179621001	28	13371											
KIAA0947	23379	broad.mit.edu	37	chr5	5461594	5461594	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgggagcatctaattttaAtgatcagaagagcagtggga	14	11	12	4	0	2	3	1	1	1	2	2	5	2	5	0	2	2	2	0	2	3	4			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:5461594A>T	ENST00000296564.7	+	13	2369	c.2147A>T	c.(2146-2148)aAt>aTt	p.N716I		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	716										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCTAATTTTAATGATCAGAAG	0.398													22	36					0	0	0	0	T	5461594	A	T	5461594	3	4	69	1	0	0	0	0	1	0	0	0	8253	101	4	5	2197	5	KIAA0947	5	5461594	Missense_Mutation	SNP	A	TCGA-CN-4736-01A-01D-1434-08	4167335	5461594	175453666	29	13372											
DNAH5	1767	broad.mit.edu	37	chr5	13807734	13807734	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtggttgcagaagaaaaaTtcagactcttgatcatgtga	13	11	12	5	0	3	5	2	2	1	3	3	5	3	5	0	2	1	2	0	2	3	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:13807734T>A	ENST00000265104.4	-	47	7957	c.7853A>T	c.(7852-7854)aAt>aTt	p.N2618I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2618	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAAGAAAAATTCAGACTCTT	0.388									Kartagener syndrome				7	24					0	0	0	0	A	13807734	T	A	13807734	3	1	69	1	0	0	0	0	1	0	0	0	4641	1493	52	5	6153	5	DNAH5	5	13807734	Missense_Mutation	SNP	T	TCGA-CN-4736-01A-01D-1434-08	8346140	13807734	167107526	30	13373											
ANKH	56172	broad.mit.edu	37	chr5	14716935	14716935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgggtgtccaaaacatcaCgaaacagagctggggagaaa	15	6	13	7	1	1	2	1	0	0	2	2	4	2	2	1	3	3	2	1	3	4	1			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:14716935C>T	ENST00000284268.6	-	9	1351	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	ANKH_ENST00000535119.1_Missense_Mutation_p.V143M	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	341					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAAAACATCACGAAACAGAGC	0.453													4	33					0	0	0	0	T	14716935	C	T	14716935	3	4	69	1	0	0	0	0	1	0	0	0	627	536	19	1	473	1	ANKH	5	14716935	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	909201	14716935	166198325	31	13374											
CDH10	1008	broad.mit.edu	37	chr5	24511576	24511576	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgctttgacacttccaaTggctgtgccaactggggagg	8	11	13	9	0	0	1	0	1	0	0	1	2	1	2	2	4	3	3	2	4	2	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:24511576T>A	ENST00000264463.4	-	6	1369	c.862A>T	c.(862-864)Att>Ttt	p.I288F		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	288	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACACTTCCAATGGCTGTGCCA	0.423										HNSCC(23;0.051)			38	72					0	0	0	0	A	24511576	T	A	24511576	3	1	69	1	0	0	0	0	1	0	0	0	3125	1464	51	5	1532	5	CDH10	5	24511576	Missense_Mutation	SNP	T	TCGA-CN-4736-01A-01D-1434-08	9794641	24511576	156403684	32	13375											
PDE6A	5145	broad.mit.edu	37	chr5	149265901	149265901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagtgaccatggccaaggCctctaggtccgtgaagtagc	10	7	13	11	1	1	2	0	2	1	0	2	2	2	2	4	3	2	2	4	3	4	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:149265901C>T	ENST00000255266.5	-	14	1884	c.1765G>A	c.(1765-1767)Gcc>Acc	p.A589T		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	589					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATGGCCAAGGCCTCTAGGTCC	0.537													10	38					0	0	0	0	T	149265901	C	T	149265901	3	4	69	1	0	0	0	0	1	0	0	0	11716	739	26	4	853	4	PDE6A	5	149265901	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	124754325	149265901	31649359	33	13376											
FAT2	2196	broad.mit.edu	37	chr5	150930202	150930202	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgaggtccaattttccCaccgttaccaggacaccact	10	8	8	15	2	0	0	0	0	0	0	2	3	2	1	6	2	2	1	6	2	2	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:150930202C>T	ENST00000261800.5	-	7	4539	c.4527G>A	c.(4525-4527)gtG>gtA	p.V1509V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1509	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAATTTTCCCACCGTTACCA	0.522													16	80					0	0	0	0	T	150930202	C	T	150930202	2	4	69	1	0	0	0	0	0	0	0	1	5735	581	21	4		4	FAT2	5	150930202	Silent	SNP	C	TCGA-CN-4736-01A-01D-1434-08	1664301	150930202	29985058	34	13377											
PDLIM7	9260	broad.mit.edu	37	chr5	176910984	176910984	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaacatcttctcatagtCtgagaatgggggcagagaga	13	8	12	8	0	3	3	1	1	3	3	4	5	3	3	1	2	1	1	1	2	3	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:176910984C>A	ENST00000355841.2	-	12	1238		c.e12-1		PDLIM7_ENST00000505746.1_Splice_Site|PDLIM7_ENST00000356618.4_Splice_Site|PDLIM7_ENST00000359895.2_Splice_Site	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)						cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTCATAGTCTGAGAATGGG	0.577													8	72					0.27861	0.286628	1	0	A	176910984	C	A	176910984	5	1	69	1	0	0	0	0	0	0	1	0	11755	927	32	2	210	2	PDLIM7	5	176910984	Splice_Site	SNP	C	TCGA-CN-4736-01A-01D-1434-08	25980782	176910984	4004276	35	13378											
ADAMTS2	9509	broad.mit.edu	37	chr5	178580593	178580593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgccggccagtcgtgggCgaaggggtcatccagcaggc	7	4	17	13	4	1	0	1	0	0	0	3	1	2	0	3	5	2	1	3	5	1	0			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:178580593C>T	ENST00000251582.7	-	9	1515	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A472T	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	472					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGTCGTGGGCGAAGGGGTCA	0.657													5	20					0	0	0	0	T	178580593	C	T	178580593	3	4	69	1	0	0	0	0	1	0	0	0	265	768	27	1	2352	1	ADAMTS2	5	178580593	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	1669609	178580593	2334667	36	13379											
HMGN4	10473	broad.mit.edu	37	chr6	26545528	26545528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagctcggttgtctgctaaaCcagctcctccaaaaccagag	11	8	8	14	1	1	1	0	0	1	1	4	1	3	1	4	1	5	4	4	1	4	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr6:26545528C>T	ENST00000377575.2	+	2	271	c.94C>T	c.(94-96)Cca>Tca	p.P32S		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	32						chromatin|nucleus	DNA binding			lung(2)|skin(1)	3						GTCTGCTAAACCAGCTCCTCC	0.502													15	48					0	0	0	0	T	26545528	C	T	26545528	3	4	69	1	0	0	0	0	1	0	0	0	7287	507	18	4	96	4	HMGN4	6	26545528	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08		26545528	144569539	37	13380											
GLCCI1	113263	broad.mit.edu	37	chr7	8110681	8110681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagtcattcaccctGtgtctcccctttttgtcccc	4	14	6	17	0	3	0	2	0	1	0	5	0	4	0	5	0	2	2	5	0	0	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:8110681G>T	ENST00000223145.5	+	6	1654	c.1097G>T	c.(1096-1098)tGt>tTt	p.C366F		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	366										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CATTCACCCTGTGTCTCCCCT	0.512													68	167					2.48295e-43	3.17019e-43	1	0	T	8110681	G	T	8110681	3	4	69	1	0	0	0	0	1	0	0	0	6482	1377	48	4	1119	4	GLCCI1	7	8110681	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08		8110681	151027982	38	13381											
NPC1L1	29881	broad.mit.edu	37	chr7	44560609	44560609	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accctttgggacatttgatgTtgggccggtcgttcaggaac	7	12	13	9	2	1	1	1	1	0	0	2	3	1	3	2	4	1	2	2	4	1	4			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:44560609T>C	ENST00000289547.4	-	13	3117	c.3062A>G	c.(3061-3063)aAc>aGc	p.N1021S	NPC1L1_ENST00000381160.3_Missense_Mutation_p.N1021S|NPC1L1_ENST00000546276.1_Missense_Mutation_p.N975S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1021					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACATTTGATGTTGGGCCGGTC	0.547													50	264					0	0	0	0	C	44560609	T	C	44560609	3	2	69	1	0	0	0	0	1	0	0	0	10641	1725	60	5	1049	5	NPC1L1	7	44560609	Missense_Mutation	SNP	T	TCGA-CN-4736-01A-01D-1434-08	36449928	44560609	114578054	39	13382											
CYP51A1	1595	broad.mit.edu	37	chr7	91756928	91756928	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggccactttttaacattttCttctgctccaagaaaacctt	11	15	4	11	0	2	1	0	0	2	1	3	1	3	1	3	1	3	1	3	1	4	7			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:91756928C>T	ENST00000003100.8	-	4	651	c.486G>A	c.(484-486)aaG>aaA	p.K162K	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Silent_p.K57K	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	156					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	TTAACATTTTCTTCTGCTCCA	0.303													4	53					0	0	0	0	T	91756928	C	T	91756928	2	4	69	1	0	0	0	0	0	0	0	1	4227	912	32	2		2	CYP51A1	7	91756928	Silent	SNP	C	TCGA-CN-4736-01A-01D-1434-08	47196319	91756928	67381735	40	13383											
ZC3HC1	51530	broad.mit.edu	37	chr7	129679338	129679338	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggccagaaacagaacttCtcatgggcagtacacaaggc	13	7	10	11	0	2	2	1	0	2	2	3	2	2	2	1	3	3	2	1	3	4	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:129679338C>T	ENST00000358303.4	-	4	543	c.459G>A	c.(457-459)gaG>gaA	p.E153E	ZC3HC1_ENST00000481503.1_Silent_p.E153E|ZC3HC1_ENST00000311873.5_Silent_p.E132E|ZC3HC1_ENST00000360708.5_Silent_p.E153E	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	153					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AACAGAACTTCTCATGGGCAG	0.388													5	60					0	0	0	0	T	129679338	C	T	129679338	2	4	69	1	0	0	0	0	0	0	0	1	17672	912	32	2		2	ZC3HC1	7	129679338	Silent	SNP	C	TCGA-CN-4736-01A-01D-1434-08	37922410	129679338	29459325	41	13384											
DPP6	1804	broad.mit.edu	37	chr7	154672633	154672633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtacattgacaggacgcGcgtggccgtgtttgggaagg	8	8	17	8	4	0	1	0	1	0	0	0	3	0	3	1	4	1	3	1	4	2	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:154672633G>A	ENST00000404039.1	+	21	2509	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	DPP6_ENST00000377770.3_Missense_Mutation_p.R705H|DPP6_ENST00000332007.3_Missense_Mutation_p.R643H|DPP6_ENST00000427557.1_Missense_Mutation_p.R598H	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	705					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GACAGGACGCGCGTGGCCGTG	0.552													8	68					0	0	0	0	A	154672633	G	A	154672633	3	1	69	1	0	0	0	0	1	0	0	0	4766	1087	38	1	2312	1	DPP6	7	154672633	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	24993295	154672633	4466030	42	13385											
LONRF1	91694	broad.mit.edu	37	chr8	12594431	12594431	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttttttcagcttattTcttccatcttcatttacaat	7	22	2	10	0	4	0	2	0	2	0	5	0	5	0	2	0	2	2	2	0	3	10			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:12594431T>A	ENST00000398246.3	-	5	1401	c.1332A>T	c.(1330-1332)agA>agT	p.R444S	LONRF1_ENST00000533751.1_Missense_Mutation_p.R87S	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	444					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TCAGCTTATTTCTTCCATCTT	0.308													9	28					0	0	0	0	A	12594431	T	A	12594431	3	1	69	1	0	0	0	0	1	0	0	0	8958	1780	62	5	1021	5	LONRF1	8	12594431	Missense_Mutation	SNP	T	TCGA-CN-4736-01A-01D-1434-08		12594431	133769591	43	13386											
LYN	4067	broad.mit.edu	37	chr8	56864535	56864538	+	Frame_Shift_Del	DEL	TCTG	TCTG	-																															ccccccataggaagcttctcTctgtctgtcagagactttga																										TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:56864535_56864538delTCTG	ENST00000520220.2	+	7	709_712	c.435_438delTCTG	c.(433-438)tcfs	p.SL145fs	LYN_ENST00000519728.1_Frame_Shift_Del_p.SL166fs	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	166	SH2.				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|T cell costimulation	cytosol|Golgi apparatus|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)			GAAGCTTCTCTCTGTCTGTCAGAG	0.377													22	212	---	---	---	---					-	56864538	TCTG	-	56864535	7	5	69	1	0	1	0	1	0	0	0	0	9172	1538	54	0	520	0	LYN	8	56864535	Frame_Shift_Del	DEL	TCTG	TCGA-CN-4736-01A-01D-1434-08	44270104	56864535	89499487	44	13387											
ARFGEF1	10565	broad.mit.edu	37	chr8	68151121	68151121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcctggacatatgcatctCtctccagctataaaaaagag	13	10	8	10	0	2	1	0	0	2	1	4	2	2	2	2	1	3	2	2	1	5	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:68151121C>T	ENST00000262215.3	-	21	3376	c.2987G>A	c.(2986-2988)aGa>aAa	p.R996K	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R450K	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	996					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATATGCATCTCTCTCCAGCTA	0.358													16	66					0	0	0	0	T	68151121	C	T	68151121	3	4	69	1	0	0	0	0	1	0	0	0	854	913	32	2	2638	2	ARFGEF1	8	68151121	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	11286586	68151121	78212901	45	13388											
MMP16	4325	broad.mit.edu	37	chr8	89180109	89180109	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagggaacttcttcaaaTgtcagaggagttacattctg	11	13	10	7	0	4	1	2	0	2	1	4	3	4	3	0	2	2	2	0	2	4	5	rs144277355		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:89180109T>A	ENST00000286614.6	-	4	779	c.498A>T	c.(496-498)acA>acT	p.T166T	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	166					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CTTCTTCAAATGTCAGAGGAG	0.423													9	79					0	0	0	0	A	89180109	T	A	89180109	2	1	69	1	0	0	0	0	0	0	0	1	9724	1451	51	5		5	MMP16	8	89180109	Silent	SNP	T	TCGA-CN-4736-01A-01D-1434-08	21028988	89180109	57183913	46	13389											
RIMS2	9699	broad.mit.edu	37	chr8	105161040	105161040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctatcgttggtctgtcaCggaaaagtcgcagtgcttct	8	13	11	9	3	3	0	1	0	2	0	5	1	3	1	0	2	2	4	0	2	4	4			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:105161040C>T	ENST00000436393.2	+	23	3593	c.3352C>T	c.(3352-3354)Cgg>Tgg	p.R1118W	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1157					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTCTGTCACGGAAAAGTCG	0.463										HNSCC(12;0.0054)			20	104					0	0	0	0	T	105161040	C	T	105161040	3	4	69	1	0	0	0	0	1	0	0	0	13453	551	19	1		1	RIMS2	8	105161040	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	15980931	105161040	41202982	47	13390											
ZNF623	9831	broad.mit.edu	37	chr8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagattttaactcaactaCaaacgttaaaaataatcaaa	21	10	4	6	1	2	1	2	0	0	1	2	3	2	1	0	0	4	1	0	0	9	5			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K|ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413													4	146					0.150653	0.156112	1	0	A	144733541	C	A	144733541	3	1	69	1	0	0	0	0	1	0	0	0	18142	478	17	4	1501	4	ZNF623	8	144733541	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	39572501	144733541	1630481	48	13391											
KANK1	23189	broad.mit.edu	37	chr9	713311	713311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgagaactacagtgaactgGcagaagctttcggggaacct	12	8	12	9	1	0	3	0	2	0	2	1	5	0	4	1	3	5	2	1	3	5	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr9:713311G>A	ENST00000382303.1	+	7	3197	c.2545G>A	c.(2545-2547)Gca>Aca	p.A849T	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.A849T|KANK1_ENST00000382293.3_Missense_Mutation_p.A691T	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	849					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CAGTGAACTGGCAGAAGCTTT	0.517													4	180					0	0	0	0	A	713311	G	A	713311	3	1	69	1	0	0	0	0	1	0	0	0	8029	1203	42	4	2551	4	KANK1	9	713311	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08		713311	140500120	49	13392											
PSIP1	11168	broad.mit.edu	37	chr9	15465561	15465561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagagatatttcagtctctCtctcttcactggatggcctg	7	15	8	11	0	6	1	3	0	3	1	8	3	6	2	1	2	0	0	1	2	1	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr9:15465561C>G	ENST00000380733.4	-	16	1893	c.1550G>C	c.(1549-1551)aGa>aCa	p.R517T	PSIP1_ENST00000380738.4_Missense_Mutation_p.R517T			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	517					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTCAGTCTCTCTCTCTTCACT	0.363													24	148					0	0	0	0	G	15465561	C	G	15465561	3	3	69	1	0	0	0	0	1	0	0	0	12742	913	32	2	46	2	PSIP1	9	15465561	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	14752250	15465561	125747870	50	13393											
CDKN2A	1029	broad.mit.edu	37	chr9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacatcgcgatggcccagctCctcagccaggtccacgggca	8	5	12	16	3	1	0	1	0	0	0	4	2	3	0	4	3	2	2	4	3	0	0			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000579755.1_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			21	31					1.87028e-06	2.19222e-06	1	0	A	21971000	C	A	21971000	4	1	69	1	0	0	0	0	0	1	0	0	3190	864	30	2	120	2	CDKN2A	9	21971000	Nonsense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	6505439	21971000	119242431	51	13394											
ZNF658	26149	broad.mit.edu	37	chr9	40773300	40773300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcccacattcattacattCatagggtttctcccctgtgt	7	16	5	13	0	4	0	2	0	2	0	6	0	4	0	3	1	1	1	3	1	2	5			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr9:40773300C>T	ENST00000602553.1	-	5	2269	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	ZNF658_ENST00000377626.3_Missense_Mutation_p.E659K|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATTACATTCATAGGGTTTC	0.418													70	266					0	0	0	0	T	40773300	C	T	40773300	3	4	69	1	0	0	0	0	1	0	0	0	18164	835	29	2	1208	2	ZNF658	9	40773300	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	18802300	40773300	100440131	52	13395											
NOTCH1	4851	broad.mit.edu	37	chr9	139412213	139412213	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgacgcaccgggcatgcAgatgcactggaactccccaa	10	4	12	15	3	0	1	0	0	0	1	1	3	1	2	4	3	3	4	4	3	2	0			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr9:139412213A>T	ENST00000277541.6	-	8	1507	c.1432T>A	c.(1432-1434)Tgc>Agc	p.C478S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	478	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCGGGCATGCAGATGCACTGG	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			10	70					0	0	0	0	T	139412213	A	T	139412213	3	4	69	1	0	0	0	0	1	0	0	0	10617	188	7	5	6343	5	NOTCH1	9	139412213	Missense_Mutation	SNP	A	TCGA-CN-4736-01A-01D-1434-08	98638913	139412213	1801218	53	13396											
MLLT10	8028	broad.mit.edu	37	chr10	21959517	21959517	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agatgtttcagagactagagGgtcagagggcaaagggaaga	15	6	16	4	0	2	5	2	0	0	5	2	7	2	6	0	3	0	2	0	3	3	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr10:21959517G>C	ENST00000377072.3	+	10	1283	c.935G>C	c.(934-936)gGg>gCg	p.G312A	MLLT10_ENST00000307729.7_Missense_Mutation_p.G312A|MLLT10_ENST00000377059.3_Missense_Mutation_p.G312A|MLLT10_ENST00000446906.2_Missense_Mutation_p.G312A	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	312	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAGACTAGAGGGTCAGAGGGC	0.468			T	"MLL, PICALM, CDK6"	AL								6	45					0	0	0	0	C	21959517	G	C	21959517	3	2	69	1	0	0	0	0	1	0	0	0	9695	1232	43	4	969	4	MLLT10	10	21959517	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08		21959517	113575230	54	13397											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636375	18636376	+	Frame_Shift_Ins	INS	-	-	A																															cagaccgccccggggggcccINSaagccactcactggtcgtcg																										TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:18636375_18636376insA	ENST00000336349.5	-	3	1680_1681	c.1445_1446insT	c.(1444-1446)tggfs	p.W482fs		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	482	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CCGGGGGGCCCAAGCCACTCAC	0.589													15	47	---	---	---	---					A	18636376	-	A	18636375	7	5	69	1	0	1	1	0	0	0	0	0	15216	593	21	0	627	0	SPTY2D1	11	18636375	Frame_Shift_Ins	INS	-	TCGA-CN-4736-01A-01D-1434-08		18636375	116370141	55	13398											
E2F8	79733	broad.mit.edu	37	chr11	19252273	19252273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgataagagatgggtgtcgaGtaaagtttggtttcccacgt	10	13	13	5	2	0	2	0	1	0	1	2	4	1	2	1	2	0	3	1	2	3	4			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:19252273G>A	ENST00000527884.1	-	8	1407	c.1175C>T	c.(1174-1176)aCt>aTt	p.T392I	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.T392I	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	392					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGGTGTCGAGTAAAGTTTGG	0.423													18	84					0	0	0	0	A	19252273	G	A	19252273	3	1	69	1	0	0	0	0	1	0	0	0	4909	1029	36	4	1452	4	E2F8	11	19252273	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	615898	19252273	115754243	56	13399											
OR5M1	390168	broad.mit.edu	37	chr11	56380079	56380079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctaatcatttgttgcatGgcaaggattacatctgtgtt	9	15	8	9	0	2	0	1	0	1	0	2	1	2	1	2	2	2	4	2	2	3	5			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:56380079G>A	ENST00000526538.1	-	1	899	c.900C>T	c.(898-900)gcC>gcT	p.A300A		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TTTGTTGCATGGCAAGGATTA	0.388													37	190					0	0	0	0	A	56380079	G	A	56380079	2	1	69	1	0	0	0	0	0	0	0	1	11243	1335	47	4		4	OR5M1	11	56380079	Silent	SNP	G	TCGA-CN-4736-01A-01D-1434-08	37127806	56380079	78626437	57	13400											
OR5B2	390190	broad.mit.edu	37	chr11	58189994	58189994	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attactgtcccatagaagacGgagactgcagtgaagtgaga	14	8	12	7	1	0	5	0	2	0	4	1	7	1	5	1	1	2	1	1	1	4	2	rs150284257		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:58189994G>T	ENST00000302581.2	-	1	792	c.741C>A	c.(739-741)tcC>tcA	p.S247S		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CATAGAAGACGGAGACTGCAG	0.463													9	46					0.000274275	0.000306417	1	0	T	58189994	G	T	58189994	2	4	69	1	0	0	0	0	0	0	0	1	11221	1103	39	3		3	OR5B2	11	58189994	Silent	SNP	G	TCGA-CN-4736-01A-01D-1434-08	1809915	58189994	76816522	58	13401											
BRMS1	25855	broad.mit.edu	37	chr11	66109064	66109064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcactgacacactcgctgCggcgtcgctcatagtcctca	7	10	8	16	4	3	1	3	1	1	0	7	1	4	1	1	1	1	2	1	1	1	1			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:66109064C>T	ENST00000359957.3	-	3	330	c.170G>A	c.(169-171)cGc>cAc	p.R57H	BRMS1_ENST00000425825.2_Missense_Mutation_p.R57H	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	57					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						ACACTCGCTGCGGCGTCGCTC	0.582													5	278					0	0	0	0	T	66109064	C	T	66109064	3	4	69	1	0	0	0	0	1	0	0	0	1524	768	27	1	746	1	BRMS1	11	66109064	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	7919070	66109064	68897452	59	13402											
PRDM10	56980	broad.mit.edu	37	chr11	129794873	129794873	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctttcaacaaatcaaggcgGtcaaaggattctgggcaaaa	15	9	9	8	1	5	0	3	0	2	0	5	1	5	1	0	4	1	1	0	4	6	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:129794873G>A	ENST00000358825.5	-	13	2025	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	PRDM10_ENST00000360871.3_Silent_p.D594D|PRDM10_ENST00000526082.1_Silent_p.D512D|PRDM10_ENST00000304538.6_Silent_p.D508D|PRDM10_ENST00000423662.2_Silent_p.D512D|PRDM10_ENST00000528746.1_Silent_p.D568D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AATCAAGGCGGTCAAAGGATT	0.453													4	198					0	0	0	0	A	129794873	G	A	129794873	2	1	69	1	0	0	0	0	0	0	0	1	12531	1252	44	4		4	PRDM10	11	129794873	Silent	SNP	G	TCGA-CN-4736-01A-01D-1434-08	63685809	129794873	5211643	60	13403											
WNK1	65125	broad.mit.edu	37	chr12	971429	971429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatggggtatatccaccctCaagtgtggtaagtaaatgct	11	11	10	9	0	1	0	1	0	0	0	2	0	2	0	3	3	1	4	3	3	6	4			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:971429C>T	ENST00000537687.1	+	8	2775	c.2132C>T	c.(2131-2133)tCa>tTa	p.S711L	WNK1_ENST00000535572.1_Missense_Mutation_p.S711L|WNK1_ENST00000530271.2_Missense_Mutation_p.S711L|WNK1_ENST00000340908.4_Missense_Mutation_p.S304L|WNK1_ENST00000315939.6_Missense_Mutation_p.S711L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	711					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TATCCACCCTCAAGTGTGGTA	0.428													17	53					0	0	0	0	T	971429	C	T	971429	3	4	69	1	0	0	0	0	1	0	0	0	17473	838	29	2	2162	2	WNK1	12	971429	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08		971429	132880466	61	13404											
ADIPOR2	79602	broad.mit.edu	37	chr12	1889793	1889793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagagggggtctctcggCtcttctctaagtaagtatct	8	13	10	10	1	5	1	1	0	4	1	8	1	5	1	0	3	0	3	0	3	3	4			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:1889793C>T	ENST00000357103.4	+	5	891	c.640C>T	c.(640-642)Ctc>Ttc	p.L214F		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	214					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GGTCTCTCGGCTCTTCTCTAA	0.428													54	258					0	0	0	0	T	1889793	C	T	1889793	3	4	69	1	0	0	0	0	1	0	0	0	319	797	28	4	654	4	ADIPOR2	12	1889793	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	918364	1889793	131962102	62	13405											
EFCAB4B	84766	broad.mit.edu	37	chr12	3788183	3788183	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcatcccctctggacagaTacaccttctcttcatggcgc	7	11	6	17	1	4	1	2	0	2	1	6	2	5	2	4	2	1	0	4	2	1	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:3788183T>A	ENST00000440314.2	-	6	895	c.422A>T	c.(421-423)tAt>tTt	p.Y141F	EFCAB4B_ENST00000252322.1_Missense_Mutation_p.Y141F|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.Y141F	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	141					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCTGGACAGATACACCTTCTC	0.557													13	110					0	0	0	0	A	3788183	T	A	3788183	3	1	69	1	0	0	0	0	1	0	0	0	4973	1406	49	5	2025	5	EFCAB4B	12	3788183	Missense_Mutation	SNP	T	TCGA-CN-4736-01A-01D-1434-08	1898390	3788183	130063712	63	13406											
PLBD1	79887	broad.mit.edu	37	chr12	14659876	14659876	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctacgtactgttgtatcGcatgatatatttcatggatg	10	16	9	6	2	1	1	1	1	0	0	2	2	1	2	0	1	3	5	0	1	5	7	rs145582746		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:14659876G>A	ENST00000240617.5	-	9	2015	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	455					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGTTGTATCGCATGATATAT	0.403													23	112					0	0	0	0	A	14659876	G	A	14659876	4	1	69	1	0	0	0	0	0	1	0	0	12097	1095	38	1	310	1	PLBD1	12	14659876	Nonsense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	10871693	14659876	119192019	64	13407											
HDAC7	51564	broad.mit.edu	37	chr12	48179336	48179336	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accccaggggccccagccttCtagccacaagcacactctac	10	5	7	19	0	2	0	0	0	2	0	2	0	2	0	6	2	4	1	6	2	3	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:48179336C>T	ENST00000599515.1	+	1	631	c.420C>T	c.(418-420)ttC>ttT	p.F140F	HDAC7_ENST00000427332.2_Intron|HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000380610.4_Intron|HDAC7_ENST00000080059.7_Intron|HDAC7_ENST00000354334.3_Intron																							CCCCAGCCTTCTAGCCACAAG	0.577													4	9					0	0	0	0	T	48179336	C	T	48179336	2	4	69	1	0	0	0	0	0	0	0	1	7062	928	32	2		2	HDAC7	12	48179336	Silent	SNP	C	TCGA-CN-4736-01A-01D-1434-08	33519460	48179336	85672559	65	13408											
NCKAP1L	3071	broad.mit.edu	37	chr12	54891638	54891638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactatcctgaatgatcgcgGtcagggggttctcatccgta	8	11	11	11	3	2	2	2	2	1	0	6	2	4	2	2	3	0	2	2	3	3	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:54891638G>T	ENST00000293373.6	+	1	144	c.65G>T	c.(64-66)gGt>gTt	p.G22V		NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	22					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AATGATCGCGGTCAGGGGGTT	0.453													5	52					1.23904e-05	1.40621e-05	1	0	T	54891638	G	T	54891638	3	4	69	1	0	0	0	0	1	0	0	0	10292	1261	44	4	67	4	NCKAP1L	12	54891638	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	6712302	54891638	78960257	66	13409											
MARS	4141	broad.mit.edu	37	chr12	57909809	57909809	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgtgccctcgctccacaAcagccacagcatcacttccc	8	7	7	19	1	1	0	1	0	0	0	4	0	3	0	4	1	4	3	4	1	1	1			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:57909809A>C	ENST00000315473.5	+	18	2447	c.1796A>C	c.(1795-1797)aAc>aCc	p.N599T	MARS_ENST00000262027.5_Intron			P56192	SYMC_HUMAN	methionyl-tRNA synthetase	0					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCGCTCCACAACAGCCACAGC	0.488													8	24					0	0	0	0	C	57909809	A	C	57909809	3	2	69	1	0	0	0	0	1	0	0	0	9385	58	2	5		5	MARS	12	57909809	Missense_Mutation	SNP	A	TCGA-CN-4736-01A-01D-1434-08	3018171	57909809	75942086	67	13410											
MON2	23041	broad.mit.edu	37	chr12	62954394	62954394	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttacagattgtgtcccCtgtcagagactcagataagc	12	12	8	9	0	2	3	2	0	0	3	3	4	3	3	2	0	2	0	2	0	3	4			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:62954394C>A	ENST00000393630.3	+	27	3927	c.3536C>A	c.(3535-3537)cCt>cAt	p.P1179H	MON2_ENST00000393629.2_Missense_Mutation_p.P1178H|MON2_ENST00000393632.2_Missense_Mutation_p.P1178H|MON2_ENST00000552738.1_Missense_Mutation_p.P1155H|MON2_ENST00000280379.6_Missense_Mutation_p.P1179H|MON2_ENST00000546600.1_Missense_Mutation_p.P1178H	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1179					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATTGTGTCCCCTGTCAGAGAC	0.448													11	71					0.000673444	0.000746531	1	0	A	62954394	C	A	62954394	3	1	69	1	0	0	0	0	1	0	0	0	9770	681	24	4	3635	4	MON2	12	62954394	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	5044585	62954394	70897501	68	13411											
TSPAN8	7103	broad.mit.edu	37	chr12	71531971	71531971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctcctaggatacctgtcgCcacctgcaggagcaggatca	10	7	11	13	1	1	0	1	0	0	0	3	3	2	3	4	3	4	3	4	3	2	2	rs140330026	by1000genomes	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:71531971C>A	ENST00000393330.2	-	8	853	c.301G>T	c.(301-303)Gcg>Tcg	p.A101S	TSPAN8_ENST00000552128.1_Missense_Mutation_p.A18S|TSPAN8_ENST00000247829.3_Missense_Mutation_p.A101S|TSPAN8_ENST00000546561.1_Missense_Mutation_p.A101S			P19075	TSN8_HUMAN	tetraspanin 8	101					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			ATACCTGTCGCCACCTGCAGG	0.393													28	144					1.32181e-22	1.67273e-22	1	0	A	71531971	C	A	71531971	3	1	69	1	0	0	0	0	1	0	0	0	16748	739	26	4	432	4	TSPAN8	12	71531971	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	8577577	71531971	62319924	69	13412											
SBNO1	55206	broad.mit.edu	37	chr12	123782584	123782584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgcatcttcacgtttgtgCcactgacagatgctagaaca	10	12	8	11	1	3	3	1	1	2	2	3	3	3	3	1	0	4	3	1	0	2	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:123782584C>T	ENST00000420886.2	-	30	3979	c.3980G>A	c.(3979-3981)gGc>gAc	p.G1327D	SBNO1_ENST00000267176.4_Missense_Mutation_p.G1326D|SBNO1_ENST00000602750.1_Missense_Mutation_p.G1326D|SBNO1_ENST00000602398.1_Missense_Mutation_p.G1327D	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1327							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CACGTTTGTGCCACTGACAGA	0.428													4	125					0	0	0	0	T	123782584	C	T	123782584	3	4	69	1	0	0	0	0	1	0	0	0	13948	739	26	4	209	4	SBNO1	12	123782584	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	52250613	123782584	10069311	70	13413											
SCARB1	949	broad.mit.edu	37	chr12	125270878	125270878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcgaatggctgtcagcccGggctgccctctggccagcac	7	6	13	15	2	2	0	1	0	1	0	2	1	2	0	3	3	4	3	3	3	2	0			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:125270878G>A	ENST00000415380.2	-	11	1551	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	SCARB1_ENST00000546215.1_Intron|SCARB1_ENST00000541205.1_Missense_Mutation_p.R435W|SCARB1_ENST00000540495.1_Missense_Mutation_p.R439W|SCARB1_ENST00000535005.1_Intron|SCARB1_ENST00000261693.6_Intron|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000544327.1_Missense_Mutation_p.R422W|SCARB1_ENST00000339570.5_Intron			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	476					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CTGTCAGCCCGGGCTGCCCTC	0.667													26	126					0	0	0	0	A	125270878	G	A	125270878	3	1	69	1	0	0	0	0	1	0	0	0	13967	1131	39	1		1	SCARB1	12	125270878	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	1488294	125270878	8581017	71	13414											
TPTE2	93492	broad.mit.edu	37	chr13	20000607	20000607	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcatcatacagaggtggAccgtcatatacattaattaa	16	11	6	8	1	3	1	3	0	0	1	3	2	3	2	1	2	2	0	1	2	5	5			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr13:20000607A>G	ENST00000400230.2	-	18	1397	c.1353T>C	c.(1351-1353)ggT>ggC	p.G451G	TPTE2_ENST00000390680.2_Silent_p.G374G|TPTE2_ENST00000382978.1_Silent_p.G411G|TPTE2_ENST00000382977.4_Silent_p.G451G|TPTE2_ENST00000255310.6_Silent_p.G374G|TPTE2_ENST00000382975.4_Silent_p.G411G|TPTE2_ENST00000457266.2_Silent_p.G340G|TPTE2_ENST00000400103.2_Silent_p.G340G			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	451	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACAGAGGTGGACCGTCATATA	0.338													24	88					0	0	0	0	G	20000607	A	G	20000607	2	3	69	1	0	0	0	0	0	0	0	1	16526	262	10	5		5	TPTE2	13	20000607	Silent	SNP	A	TCGA-CN-4736-01A-01D-1434-08		20000607	95169271	72	13415											
ZMYM5	9205	broad.mit.edu	37	chr13	20399104	20399104	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtacaatggagtcttcaaaaTttttctcttccagttgctct	9	17	6	9	0	4	0	1	0	3	0	6	1	5	1	1	1	2	3	1	1	4	6			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr13:20399104T>G	ENST00000337963.4	-	8	1787	c.1523A>C	c.(1522-1524)aAt>aCt	p.N508T		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	508						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		gtcttcaaaatttttctcttc	0.413													2	14					0	0	0	0	G	20399104	T	G	20399104	3	3	69	1	0	0	0	0	1	0	0	0	17798	1493	52	5	490	5	ZMYM5	13	20399104	Missense_Mutation	SNP	T	TCGA-CN-4736-01A-01D-1434-08	398497	20399104	94770774	73	13416											
LCP1	3936	broad.mit.edu	37	chr13	46725072	46725072	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaacaacgctcctcctaccTtgatgtcagtactgaagttg	11	11	7	12	1	1	2	1	2	0	0	3	2	3	2	3	0	4	3	3	0	5	4			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr13:46725072T>C	ENST00000398576.2	-	11	1269	c.882_splice	c.e11+1	p.K294_splice	LCP1_ENST00000323076.2_Splice_Site_p.K294_splice			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	294	Actin-binding 1.|CH 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCCTCCTACCTTGATGTCAGT	0.448			T	BCL6	NHL								51	99					0	0	0	0	C	46725072	T	C	46725072	5	2	69	1	0	0	0	0	0	0	1	0	8744	1623	56	5	1038	5	LCP1	13	46725072	Splice_Site	SNP	T	TCGA-CN-4736-01A-01D-1434-08	26325968	46725072	68444806	74	13417											
MYO16	23026	broad.mit.edu	37	chr13	109777522	109777522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taagcatcagacaacaagagGtgacttctatcaatagcttt	15	11	7	8	0	3	3	2	1	1	2	3	3	3	3	0	1	3	2	0	1	6	5			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr13:109777522G>A	ENST00000356711.2	+	30	3658	c.3532G>A	c.(3532-3534)Gtg>Atg	p.V1178M	MYO16_ENST00000357550.2_Missense_Mutation_p.V1178M|MYO16_ENST00000457511.2_Missense_Mutation_p.V690M	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1178					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACAACAAGAGGTGACTTCTAT	0.438													17	25					0	0	0	0	A	109777522	G	A	109777522	3	1	69	1	0	0	0	0	1	0	0	0	10134	1261	44	4	3646	4	MYO16	13	109777522	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	63052450	109777522	5392356	75	13418											
TMEM63C	57156	broad.mit.edu	37	chr14	77715181	77715181	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcagcgtggtgatggcGtacagcatcacttgccccat	7	11	12	11	2	2	1	2	1	0	0	2	1	2	1	2	2	4	3	2	2	1	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr14:77715181G>A	ENST00000298351.4	+	20	1980	c.1836G>A	c.(1834-1836)gcG>gcA	p.A612A		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	612						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TGGTGATGGCGTACAGCATCA	0.562													4	188					0	0	0	0	A	77715181	G	A	77715181	2	1	69	1	0	0	0	0	0	0	0	1	16286	1132	40	1		1	TMEM63C	14	77715181	Silent	SNP	G	TCGA-CN-4736-01A-01D-1434-08		77715181	29634359	76	13419											
ASB2	51676	broad.mit.edu	37	chr14	94413768	94413768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcttgttggcgtcggcacCctgtgacagcagaaactcca	8	9	12	12	2	1	2	0	1	1	1	3	2	2	2	2	3	2	3	2	3	1	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr14:94413768C>T	ENST00000555019.1	-	7	1409	c.979G>A	c.(979-981)Ggt>Agt	p.G327S	ASB2_ENST00000315988.4_Missense_Mutation_p.G279S|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	279					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCGTCGGCACCCTGTGACAGC	0.612													19	72					0	0	0	0	T	94413768	C	T	94413768	3	4	69	1	0	0	0	0	1	0	0	0	1027	623	22	4	944	4	ASB2	14	94413768	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	16698587	94413768	12935772	77	13420											
RTL1	388015	broad.mit.edu	37	chr14	101349254	101349254	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgtagcctggctctttcTtgcatcctggcacccacagg	5	12	9	15	0	2	0	0	0	2	0	4	0	4	0	4	3	2	4	4	3	1	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr14:101349254T>A	ENST00000534062.1	-	1	1930	c.1872A>T	c.(1870-1872)caA>caT	p.Q624H		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	624										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGGCTCTTTCTTGCATCCTGG	0.547													4	19					0	0	0	0	A	101349254	T	A	101349254	3	1	69	1	0	0	0	0	1	0	0	0	13809	1606	56	5	2208	5	RTL1	14	101349254	Missense_Mutation	SNP	T	TCGA-CN-4736-01A-01D-1434-08	6935486	101349254	6000286	78	13421											
ZNF770	54989	broad.mit.edu	37	chr15	35274909	35274909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taataaaagagcccgaaaagCcttattcctagtatggattt	15	12	7	7	1	0	1	0	0	0	1	1	3	1	2	3	1	2	1	3	1	8	7			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr15:35274909C>T	ENST00000356321.4	-	3	1071	c.727G>A	c.(727-729)Gct>Act	p.A243T		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GCCCGAAAAGCCTTATTCCTA	0.363													20	51					0	0	0	0	T	35274909	C	T	35274909	3	4	69	1	0	0	0	0	1	0	0	0	18237	739	26	4	1352	4	ZNF770	15	35274909	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08		35274909	67256483	79	13422											
CREBBP	1387	broad.mit.edu	37	chr16	3817904	3817904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctccttgcaaatcctcctCcatcatcttgagaaaaacat	13	11	4	13	0	2	1	1	1	1	1	6	2	6	1	4	0	3	2	4	0	3	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:3817904C>T	ENST00000262367.5	-	16	3876	c.3067G>A	c.(3067-3069)Gag>Aag	p.E1023K	CREBBP_ENST00000382070.3_Missense_Mutation_p.E985K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1023					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAATCCTCCTCCATCATCTTG	0.388			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						22	132					0	0	0	0	T	3817904	C	T	3817904	3	4	69	1	0	0	0	0	1	0	0	0	3891	864	30	2	4325	2	CREBBP	16	3817904	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08		3817904	86536849	80	13423											
ACSM5	54988	broad.mit.edu	37	chr16	20432686	20432686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatggtcgagcactccCagagcagctacggactgggt	10	6	13	12	2	0	2	0	0	0	2	2	4	1	3	2	3	4	3	2	3	2	1			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:20432686C>A	ENST00000331849.4	+	5	877	c.730C>A	c.(730-732)Cag>Aag	p.Q244K		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	244					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CGAGCACTCCCAGAGCAGCTA	0.577													8	41					5.18039e-06	5.97416e-06	1	0	A	20432686	C	A	20432686	3	1	69	1	0	0	0	0	1	0	0	0	187	595	21	4	744	4	ACSM5	16	20432686	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	16614782	20432686	69922067	81	13424											
SLC5A11	115584	broad.mit.edu	37	chr16	24921693	24921693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaacaagcaccaccagcaGctcccttgtctcttaccctc	10	8	6	17	0	1	0	0	0	1	0	4	1	2	1	4	1	5	3	4	1	3	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:24921693G>A	ENST00000347898.3	+	15	2339	c.1717G>A	c.(1717-1719)Gct>Act	p.A573T	SLC5A11_ENST00000539472.1_Missense_Mutation_p.A509T|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A417T|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A538T|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A509T|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A503T|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A538T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A417T|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A503T	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	573					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		ACCACCAGCAGCTCCCTTGTC	0.542													25	119					0	0	0	0	A	24921693	G	A	24921693	3	1	69	1	0	0	0	0	1	0	0	0	14751	971	34	4	1771	4	SLC5A11	16	24921693	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	4489007	24921693	65433060	82	13425											
PLA2G15	23659	broad.mit.edu	37	chr16	68289188	68289188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtatttctgtctacaggttCctatttccacaccatggtgg	7	16	8	10	0	2	0	0	0	2	0	4	0	4	0	3	3	1	2	3	3	3	6			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:68289188C>T	ENST00000219345.5	+	4	490	c.407C>T	c.(406-408)tCc>tTc	p.S136F	PLA2G15_ENST00000566188.1_Missense_Mutation_p.S136F|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Missense_Mutation_p.P84S	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	136					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TCTACAGGTTCCTATTTCCAC	0.557													8	28					0	0	0	0	T	68289188	C	T	68289188	3	4	69	1	0	0	0	0	1	0	0	0	12064	855	30	2	421	2	PLA2G15	16	68289188	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	43367495	68289188	22065565	83	13426											
DHODH	1723	broad.mit.edu	37	chr16	72057436	72057436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacgcgctggagaagatccGggcaggggcctccctggtgc	6	5	18	12	3	0	2	0	0	0	2	2	4	2	3	3	6	1	2	3	6	1	0			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:72057436G>A	ENST00000572887.1	+	8	1208	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q	DHODH_ENST00000219240.4_Missense_Mutation_p.R346Q			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	346					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GAGAAGATCCGGGCAGGGGCC	0.607													29	113					0	0	0	0	A	72057436	G	A	72057436	3	1	69	1	0	0	0	0	1	0	0	0	4521	1116	39	1	1067	1	DHODH	16	72057436	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	3768248	72057436	18297317	84	13427											
WFDC1	58189	broad.mit.edu	37	chr16	84328674	84328674	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgccggctctgccaagAatatctggaaacgggcattg	10	8	11	12	3	2	1	0	0	2	1	3	2	3	2	3	3	2	2	3	3	4	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:84328674A>T	ENST00000219454.5	+	1	423	c.97A>T	c.(97-99)Aat>Tat	p.N33Y	WFDC1_ENST00000568638.1_Missense_Mutation_p.N33Y			Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	33				N -> D (in Ref. 3; BAC11377).	negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTCTGCCAAGAATATCTGGAA	0.632													25	120					0	0	0	0	T	84328674	A	T	84328674	3	4	69	1	0	0	0	0	1	0	0	0	17442	246	9	5	99	5	WFDC1	16	84328674	Missense_Mutation	SNP	A	TCGA-CN-4736-01A-01D-1434-08	12271238	84328674	6026079	85	13428											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:7578271T>G	ENST00000420246.2	-	6	710	c.578A>C	c.(577-579)cAt>cCt	p.H193P	TP53_ENST00000269305.4_Missense_Mutation_p.H193P|TP53_ENST00000413465.2_Missense_Mutation_p.H193P|TP53_ENST00000445888.2_Missense_Mutation_p.H193P|TP53_ENST00000455263.2_Missense_Mutation_p.H193P|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	50					0	0	0	0	G	7578271	T	G	7578271	3	3	69	1	0	0	0	0	1	0	0	0	16476	1464	51	5	716	5	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-CN-4736-01A-01D-1434-08		7578271	73616939	86	13429											
TP53	7157	broad.mit.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	8	7	14	12	2	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	2	1			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:7578395G>A	ENST00000420246.2	-	5	667	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000269305.4_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCTCATGGTGGGGGCAG	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	58					0	0	0	0	A	7578395	G	A	7578395	3	1	69	1	0	0	0	0	1	0	0	0	16476	1348	47	4	763	4	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	124	7578395	73616815	87	13430											
CCDC42	146849	broad.mit.edu	37	chr17	8638565	8638565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttctggatgtgcgcccagCgagattcctggagagtggat	7	11	15	8	2	1	2	0	0	1	2	2	6	2	4	2	3	2	1	2	3	0	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:8638565C>T	ENST00000293845.3	-	6	948	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CCDC42_ENST00000539522.2_Missense_Mutation_p.R167H	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	241										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTGCGCCCAGCGAGATTCCTG	0.562													5	56					0	0	0	0	T	8638565	C	T	8638565	3	4	69	1	0	0	0	0	1	0	0	0	2840	768	27	1	236	1	CCDC42	17	8638565	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	1060170	8638565	72556645	88	13431											
MYH4	4622	broad.mit.edu	37	chr17	10351237	10351237	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattaagatctccctccatCttcttcttgatcctcagagc	8	15	4	14	0	6	3	2	1	4	2	9	3	8	3	3	0	1	0	3	0	1	4			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:10351237C>T	ENST00000255381.2	-	34	4973	c.4863G>A	c.(4861-4863)aaG>aaA	p.K1621K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1621					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCCCTCCATCTTCTTCTTGA	0.458													9	278					0	0	0	0	T	10351237	C	T	10351237	2	4	69	1	0	0	0	0	0	0	0	1	10107	912	32	2		2	MYH4	17	10351237	Silent	SNP	C	TCGA-CN-4736-01A-01D-1434-08	1712672	10351237	70843973	89	13432											
MYOCD	93649	broad.mit.edu	37	chr17	12639605	12639605	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgggatccccgccagaCgctaaagcctcagatacccc	10	5	9	17	3	2	2	2	0	0	2	3	3	3	3	6	1	3	1	6	1	3	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:12639605C>T	ENST00000425538.1	+	6	743	c.543C>T	c.(541-543)gaC>gaT	p.D181D	MYOCD_ENST00000395988.1_Silent_p.D85D|MYOCD_ENST00000343344.4_Silent_p.D181D	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	181	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCCGCCAGACGCTAAAGCCT	0.488													26	119					0	0	0	0	T	12639605	C	T	12639605	2	4	69	1	0	0	0	0	0	0	0	1	10157	535	19	1		1	MYOCD	17	12639605	Silent	SNP	C	TCGA-CN-4736-01A-01D-1434-08	2288368	12639605	68555605	90	13433											
CACNA1G	8913	broad.mit.edu	37	chr17	48699100	48699100	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctctagctctgacggAtgactctttgcctgatgaca	7	13	9	12	1	3	4	0	4	3	0	4	5	3	5	1	1	3	2	1	1	1	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:48699100A>T	ENST00000354983.4	+	33	6275	c.5903A>T	c.(5902-5904)gAt>gTt	p.D1968V	CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1931V|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1991V|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D2002V|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000505165.1_Intron	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2002					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTCTGACGGATGACTCTTTG	0.547													5	67					0	0	0	0	T	48699100	A	T	48699100	3	4	69	1	0	0	0	0	1	0	0	0	2569	333	12	5	6410	5	CACNA1G	17	48699100	Missense_Mutation	SNP	A	TCGA-CN-4736-01A-01D-1434-08	36059495	48699100	32496110	91	13434											
DLGAP1	9229	broad.mit.edu	37	chr18	3880018	3880018	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcgagtcacaggccgaGtcgcaggtgaccccgtggtg	8	5	16	12	4	1	1	1	1	0	0	2	4	1	1	3	3	1	1	3	3	0	0			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr18:3880018G>A	ENST00000315677.3	-	4	646	c.51C>T	c.(49-51)gaC>gaT	p.D17D	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Silent_p.D17D|DLGAP1_ENST00000581527.1_Silent_p.D17D|DLGAP1_ENST00000584874.1_Silent_p.D17D	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	17					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CACAGGCCGAGTCGCAGGTGA	0.662													14	27					0	0	0	0	A	3880018	G	A	3880018	2	1	69	1	0	0	0	0	0	0	0	1	4596	1020	36	4		4	DLGAP1	18	3880018	Silent	SNP	G	TCGA-CN-4736-01A-01D-1434-08		3880018	74197230	92	13435											
CHST9	83539	broad.mit.edu	37	chr18	24496367	24496367	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcggaagagtgcctatcCttaaagttgggaaatttcag	12	12	10	7	1	2	1	2	0	0	1	4	3	3	3	2	2	1	1	2	2	5	4			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr18:24496367C>G	ENST00000284224.8	-	6	1465	c.1188G>C	c.(1186-1188)aaG>aaC	p.K396N	AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.K396N	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	396					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					AGTGCCTATCCTTAAAGTTGG	0.368													47	165					0	0	0	0	G	24496367	C	G	24496367	3	3	69	1	0	0	0	0	1	0	0	0	3440	680	24	4	147	4	CHST9	18	24496367	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	20616349	24496367	53580881	93	13436											
CPLX4	339302	broad.mit.edu	37	chr18	56963955	56963955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacggaacacttctgctccGctgtctgcttgatttcagtg	6	14	9	12	2	4	1	2	1	2	0	5	2	5	2	1	1	3	3	1	1	1	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr18:56963955G>A	ENST00000299721.3	-	3	644	c.458C>T	c.(457-459)gCg>gTg	p.A153V	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	153					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	p.A153V(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CTTCTGCTCCGCTGTCTGCTT	0.498													13	60					0	0	0	0	A	56963955	G	A	56963955	3	1	69	1	0	0	0	0	1	0	0	0	3837	1087	38	1	28	1	CPLX4	18	56963955	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	32467588	56963955	21113293	94	13437											
INSR	3643	broad.mit.edu	37	chr19	7122639	7122639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaacctccaattttgacaGtaaaatcatgggcgaccatg	14	9	8	10	2	1	1	1	1	0	0	2	3	2	1	3	1	1	1	3	1	4	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:7122639G>A	ENST00000341500.5	-	18	3518	c.3479C>T	c.(3478-3480)aCt>aTt	p.T1160I	INSR_ENST00000302850.5_Missense_Mutation_p.T1172I	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1172	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AATTTTGACAGTAAAATCATG	0.488													3	94					0	0	0	0	A	7122639	G	A	7122639	3	1	69	1	0	0	0	0	1	0	0	0	7826	1029	36	4	649	4	INSR	19	7122639	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08		7122639	52006344	95	13438											
MUC16	94025	broad.mit.edu	37	chr19	9056421	9056421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagggctgggatggttgaaGaatcagtggtagtgaaggtt	10	10	19	2	0	1	3	1	2	0	1	1	5	1	5	0	6	0	4	0	6	4	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:9056421G>A	ENST00000397910.4	-	3	31228	c.31025C>T	c.(31024-31026)tCt>tTt	p.S10342F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10344	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S5975Y(1)|p.S10342Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGTTGAAGAATCAGTGGT	0.532													20	54					0	0	0	0	A	9056421	G	A	9056421	3	1	69	1	0	0	0	0	1	0	0	0	10043	942	33	2	12826	2	MUC16	19	9056421	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	1933782	9056421	50072562	96	13439											
CYP4F11	57834	broad.mit.edu	37	chr19	16038133	16038133	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacttgtcaccaccactCagcaggagcccatcccctgg	8	7	7	19	0	2	0	2	0	0	0	4	1	4	1	6	2	2	1	6	2	0	1			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:16038133C>A	ENST00000326742.7	-	4	415	c.414G>T	c.(412-414)ctG>ctT	p.L138L	CYP4F11_ENST00000248041.7_Silent_p.L138L|CYP4F11_ENST00000402119.3_Silent_p.L138L			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	138					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CACCACCACTCAGCAGGAGCC	0.527													21	102					0.00229938	0.00249099	1	0	A	16038133	C	A	16038133	2	1	69	1	0	0	0	0	0	0	0	1	4218	813	29	2		2	CYP4F11	19	16038133	Silent	SNP	C	TCGA-CN-4736-01A-01D-1434-08	6981712	16038133	43090850	97	13440											
TSHZ3	57616	broad.mit.edu	37	chr19	31768676	31768676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatccttgcacccatcccGcggggggctggggctgttct	3	9	13	16	2	1	0	0	0	1	0	3	0	3	0	4	5	1	4	4	5	0	2	rs143305127		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:31768676G>A	ENST00000240587.4	-	2	2350	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	675					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CACCCATCCCGCGGGGGGCTG	0.652													15	56					0	0	0	0	A	31768676	G	A	31768676	3	1	69	1	0	0	0	0	1	0	0	0	16720	1086	38	1	1226	1	TSHZ3	19	31768676	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	15730543	31768676	27360307	98	13441											
TFPT	29844	broad.mit.edu	37	chr19	54613495	54613495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggagcctgttcaggacccGctcgttcacctatggggtgg	6	10	14	11	2	2	0	2	0	0	0	3	2	2	2	3	5	1	3	3	5	1	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:54613495G>A	ENST00000391759.1	-	3	697	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	TFPT_ENST00000391757.1_Missense_Mutation_p.R98W|TFPT_ENST00000391758.1_Missense_Mutation_p.R89W	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	98					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TTCAGGACCCGCTCGTTCACC	0.577			T	TCF3	pre-B ALL								11	39					0	0	0	0	A	54613495	G	A	54613495	3	1	69	1	0	0	0	0	1	0	0	0	15904	1086	38	1	485	1	TFPT	19	54613495	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	22844819	54613495	4515488	99	13442											
SYT5	6861	broad.mit.edu	37	chr19	55689729	55689729	+	Frame_Shift_Del	DEL	G	G	-																															acgatggtggccagggcccaGgggggcactgcagaggggtg																										TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:55689729delG	ENST00000354308.3	-	3	456	c.87delC	c.(85-87)ccfs	p.P29fs	SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs|SYT5_ENST00000590851.1_Intron	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	29					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGGGCCCAGGGGGGCACTG	0.602													2	4	---	---	---	---					-	55689729	G	-	55689729	7	5	69	1	0	1	0	1	0	0	0	0	15568	987	35	0	1101	0	SYT5	19	55689729	Frame_Shift_Del	DEL	G	TCGA-CN-4736-01A-01D-1434-08	1076234	55689729	3439254	100	13443											
MYO18B	84700	broad.mit.edu	37	chr22	26168444	26168444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatctgattgtcctccaGccccgggggccctcggtgcc	3	9	12	17	2	1	2	0	2	1	0	4	2	3	2	7	3	2	0	7	3	0	1			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr22:26168444G>T	ENST00000335473.7	+	7	2086	c.1836G>T	c.(1834-1836)caG>caT	p.Q612H	MYO18B_ENST00000407587.2_Missense_Mutation_p.Q612H|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q612H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	612	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTGTCCTCCAGCCCCGGGGGC	0.637													7	37					2.0095e-06	2.33625e-06	1	0	T	26168444	G	T	26168444	3	4	69	1	0	0	0	0	1	0	0	0	10136	962	34	4	1858	4	MYO18B	22	26168444	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08		26168444	25136122	101	13444											
PES1	23481	broad.mit.edu	37	chr22	30976074	30976074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctgctgcccaggccggtCgacaatctgatgggtgatgc	6	9	15	11	2	2	2	0	2	2	0	3	3	2	2	2	4	3	1	2	4	1	0			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr22:30976074C>T	ENST00000402281.1	-	13	1709	c.718G>A	c.(718-720)Gac>Aac	p.D240N	PES1_ENST00000335214.6_Missense_Mutation_p.D374N|PES1_ENST00000405677.1_Missense_Mutation_p.D240N|PES1_ENST00000402284.3_Missense_Mutation_p.D362N|PES1_ENST00000354694.6_Missense_Mutation_p.D379N			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	379	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCAGGCCGGTCGACAATCTGA	0.572													31	129					0	0	0	0	T	30976074	C	T	30976074	3	4	69	1	0	0	0	0	1	0	0	0	11804	884	31	1	651	1	PES1	22	30976074	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	4807630	30976074	20328492	102	13445											
TXN2	25828	broad.mit.edu	37	chr22	36876729	36876729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggagatcctcgtggtgtaTattgtccgggctgggttggg	6	12	17	6	2	0	1	0	0	0	1	3	2	2	1	2	5	0	3	2	5	3	4	rs146269725	by1000genomes	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr22:36876729T>C	ENST00000216185.2	-	2	622	c.156A>G	c.(154-156)atA>atG	p.I52M	TXN2_ENST00000403313.1_Missense_Mutation_p.I52M|TXN2_ENST00000416967.1_De_novo_Start_InFrame|TXN2_ENST00000487725.1_5'UTR			Q99757	THIOM_HUMAN	thioredoxin 2	52					cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						TCGTGGTGTATATTGTCCGGG	0.547													24	89					0	0	0	0	C	36876729	T	C	36876729	3	2	69	1	0	0	0	0	1	0	0	0	16887	1396	49	5	356	5	TXN2	22	36876729	Missense_Mutation	SNP	T	TCGA-CN-4736-01A-01D-1434-08	5900655	36876729	14427837	103	13446											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38483189	38483190	+	In_Frame_Ins	INS	-	-	GGTCATGGA																															ggggacatggaggtcatggaINSggtcatgggggtcacggggg																								rs71803583		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr22:38483189_38483190insGGTCATGGA	ENST00000381669.3	-	11	1344_1345	c.1200_1201insTCCATGACC	c.(1198-1203)acccat>acTCCATGACCccat	p.400_401TH>TP*PH		NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	400					filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					gaggtcatggaggtcatggggg	0.658													9	33	---	---	---	---					GGTCATGGA	38483190	-	GGTCATGGA	38483189	7	5	69	1	0	1	1	0	0	0	0	0	1307	304	11	0	404	0	BAIAP2L2	22	38483189	In_Frame_Ins	INS	-	TCGA-CN-4736-01A-01D-1434-08	1606460	38483189	12821377	104	13447											
ARMCX2	9823	broad.mit.edu	37	chrX	100911937	100911937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcagctgcctcggtaggcGatgccaccccgggagcttca	6	7	12	16	3	2	0	2	0	0	0	3	2	2	1	5	3	4	3	5	3	1	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:100911937G>A	ENST00000328766.5	-	5	1091	c.638C>T	c.(637-639)tCg>tTg	p.S213L	ARMCX2_ENST00000330154.2_Missense_Mutation_p.S213L|ARMCX2_ENST00000356824.4_Missense_Mutation_p.S213L	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	213	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CTCGGTAGGCGATGCCACCCC	0.647													8	54					0	0	0	0	A	100911937	G	A	100911937	3	1	69	1	0	0	0	0	1	0	0	0	964	1059	37	1	1264	1	ARMCX2	23	100911937	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08		100911937	54358623	105	13448											
NKRF	55922	broad.mit.edu	37	chrX	118723942	118723942	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacttcactctctagaatCactttgcatttccagcggag	10	14	6	11	1	3	1	2	0	1	1	5	2	4	2	1	1	3	1	1	1	3	5			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:118723942C>A	ENST00000371527.1	-	2	2098	c.1446G>T	c.(1444-1446)gtG>gtT	p.V482V	NKRF_ENST00000304449.5_Silent_p.V482V|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Silent_p.V497V	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	482					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	p.V482V(3)|p.V497V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TCTCTAGAATCACTTTGCATT	0.463													4	239					0.014758	0.0158676	1	0	A	118723942	C	A	118723942	2	1	69	1	0	0	0	0	0	0	0	1	10517	813	29	2		2	NKRF	23	118723942	Silent	SNP	C	TCGA-CN-4736-01A-01D-1434-08	17812005	118723942	36546618	106	13449											
XPNPEP2	7512	broad.mit.edu	37	chrX	128895151	128895151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctcttcccttccagggcGaatggtggaggcctttgccc	4	12	11	14	1	2	0	0	0	2	0	5	2	4	1	4	4	1	0	4	4	1	3			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:128895151G>A	ENST00000371106.3	+	17	1694	c.1502G>A	c.(1501-1503)cGa>cAa	p.R501Q		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	501					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CTTCCAGGGCGAATGGTGGAG	0.547													6	48					0	0	0	0	A	128895151	G	A	128895151	3	1	69	1	0	0	0	0	1	0	0	0	17539	1058	37	1	1568	1	XPNPEP2	23	128895151	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	10171209	128895151	26375409	107	13450											
ATP11C	286410	broad.mit.edu	37	chrX	138864754	138864754	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcatgtttgtctcaataTcatcgaaaactttttccatt	12	18	3	8	1	3	0	3	0	1	0	6	1	4	0	1	0	1	1	1	0	5	6			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:138864754T>A	ENST00000370557.1	-	18	2931	c.1904A>T	c.(1903-1905)gAt>gTt	p.D635V	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Missense_Mutation_p.D638V|ATP11C_ENST00000327569.3_Missense_Mutation_p.D638V|ATP11C_ENST00000370543.1_Missense_Mutation_p.D638V|ATP11C_ENST00000361648.2_Missense_Mutation_p.D638V			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	638					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGTCTCAATATCATCGAAAAC	0.338													15	84					0	0	0	0	A	138864754	T	A	138864754	3	1	69	1	0	0	0	0	1	0	0	0	1125	1435	50	5	1600	5	ATP11C	23	138864754	Missense_Mutation	SNP	T	TCGA-CN-4736-01A-01D-1434-08	9969603	138864754	16405806	108	13451											
MAMLD1	10046	broad.mit.edu	37	chrX	149639239	149639239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcccagagaagctctctaGcccaggcttgccacagcagt	9	7	10	15	1	1	1	0	0	1	1	3	2	1	1	3	1	4	3	3	1	2	2			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:149639239G>T	ENST00000370401.2	+	4	1704	c.1394G>T	c.(1393-1395)aGc>aTc	p.S465I	MAMLD1_ENST00000262858.5_Missense_Mutation_p.S465I|MAMLD1_ENST00000426613.2_Missense_Mutation_p.S440I|MAMLD1_ENST00000432680.2_Missense_Mutation_p.S440I			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	465					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTCTCTAGCCCAGGCTTG	0.582													18	183					2.48551e-13	3.06403e-13	1	0	T	149639239	G	T	149639239	3	4	69	1	0	0	0	0	1	0	0	0	9277	971	34	4	1404	4	MAMLD1	23	149639239	Missense_Mutation	SNP	G	TCGA-CN-4736-01A-01D-1434-08	10774485	149639239	5631321	109	13452											
GAB3	139716	broad.mit.edu	37	chrX	153924265	153924265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagaattaataccatttCtttctggagagagaaagctg	13	13	9	6	0	2	3	0	0	2	3	2	5	2	3	1	1	3	2	1	1	4	5			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:153924265C>A	ENST00000369575.3	-	8	1485	c.1454G>T	c.(1453-1455)aGa>aTa	p.R485I	GAB3_ENST00000424127.2_Missense_Mutation_p.R486I|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	485										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATACCATTTCTTTCTGGAGA	0.373													14	78					3.35478e-16	4.17159e-16	1	0	A	153924265	C	A	153924265	3	1	69	1	0	0	0	0	1	0	0	0	6198	913	32	2	318	2	GAB3	23	153924265	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	4285026	153924265	1346295	110	13453											
IL9R	3581	broad.mit.edu	37	chrX	155227436	155227436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacttgtgatgggactgggCagatgcatctgggaaggtga	10	9	17	5	0	1	4	0	2	1	2	1	6	1	6	0	4	1	2	0	4	1	1			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:155227436C>A	ENST00000369423.2	+	1	66	c.28C>A	c.(28-30)Cag>Aag	p.Q10K	IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000540897.1_5'UTR|IL9R_ENST00000244174.5_Silent_p.G4G			Q01113	IL9R_HUMAN	interleukin 9 receptor	0					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGGACTGGGCAGATGCATCT	0.542													10	81					1.58986e-06	1.87893e-06	1	0	A	155227436	C	A	155227436	3	1	69	1	0	0	0	0	1	0	0	0	7761	697	25	4	14	4	IL9R	23	155227436	Missense_Mutation	SNP	C	TCGA-CN-4736-01A-01D-1434-08	1303171	155227436	43124	111	13454											
ACTRT2	140625	broad.mit.edu	37	chr1	2938804	2938804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaccaagctccacgtggCgggcagggacatcacggagc	10	4	14	13	3	2	0	2	0	0	0	3	2	3	2	2	4	2	2	2	4	1	0			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:2938804C>T	ENST00000378404.2	+	1	759	c.554C>T	c.(553-555)gCg>gTg	p.A185V		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	185						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CTCCACGTGGCGGGCAGGGAC	0.642													12	79					0	0	0	0	T	2938804	C	T	2938804	3	4	70	1	0	0	0	0	1	0	0	0	219	768	27	1	556	1	ACTRT2	1	2938804	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08		2938804	246311817	1	13455											
KIF1B	23095	broad.mit.edu	37	chr1	10394634	10394634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccctgatccacagggtggCcatcgtcagtgagaaaggtg	9	7	14	11	1	1	2	1	2	0	1	3	3	2	2	4	3	0	0	4	3	1	0			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:10394634C>T	ENST00000377086.1	+	28	3183	c.2981C>T	c.(2980-2982)gCc>gTc	p.A994V	KIF1B_ENST00000263934.6_Missense_Mutation_p.A948V|KIF1B_ENST00000377081.1_Missense_Mutation_p.A994V			O60333	KIF1B_HUMAN	kinesin family member 1B	994					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACAGGGTGGCCATCGTCAGT	0.517													75	187					0	0	0	0	T	10394634	C	T	10394634	3	4	70	1	0	0	0	0	1	0	0	0	8335	739	26	4	4430	4	KIF1B	1	10394634	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08	7455830	10394634	238855987	2	13456											
ZBTB17	7709	broad.mit.edu	37	chr1	16270105	16270105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacccacctgtgtgaatgCggacgtgccgctgcagagcg	8	6	13	14	4	0	2	0	1	0	1	0	3	0	3	4	1	4	2	4	1	1	0			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:16270105C>T	ENST00000375733.2	-	11	1803	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	ZBTB17_ENST00000375743.4_Missense_Mutation_p.R522H|ZBTB17_ENST00000537142.1_Missense_Mutation_p.R440H			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	522					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGTGAATGCGGACGTGCCG	0.662													4	140					0	0	0	0	T	16270105	C	T	16270105	3	4	70	1	0	0	0	0	1	0	0	0	17622	768	27	1	870	1	ZBTB17	1	16270105	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08	5875471	16270105	232980516	3	13457											
EPHB2	2048	broad.mit.edu	37	chr1	23191380	23191380	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccccagccatcccctcCgcgccccaggctgtgatttc	4	7	8	22	3	0	1	0	1	0	0	3	1	2	1	9	1	1	1	9	1	0	1			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:23191380C>T	ENST00000400191.3	+	5	996	c.978C>T	c.(976-978)tcC>tcT	p.S326S	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Silent_p.S326S|EPHB2_ENST00000374627.1_Silent_p.S320S|EPHB2_ENST00000374632.3_Silent_p.S326S|EPHB2_ENST00000544305.1_Silent_p.S326S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	326	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCATCCCCTCCGCGCCCCAGG	0.652													16	116					0	0	0	0	T	23191380	C	T	23191380	2	4	70	1	0	0	0	0	0	0	0	1	5213	639	23	1		1	EPHB2	1	23191380	Silent	SNP	C	TCGA-CN-4737-01A-01D-1434-08	6921275	23191380	226059241	4	13458											
COL8A2	1296	broad.mit.edu	37	chr1	36563712	36563712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggggtcccgggggcccggGaggccccggagggcccgtga	4	2	22	13	4	0	1	0	1	0	0	1	3	1	3	5	8	0	0	5	8	0	0			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:36563712G>A	ENST00000397799.1	-	4	1794	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	COL8A2_ENST00000303143.4_Missense_Mutation_p.P524S|COL8A2_ENST00000481785.1_Missense_Mutation_p.P459S			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	524	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGGGCCCGGGAGGCCCCGGA	0.756													6	4					0	0	0	0	A	36563712	G	A	36563712	3	1	70	1	0	0	0	0	1	0	0	0	3736	1174	41	2	545	2	COL8A2	1	36563712	Missense_Mutation	SNP	G	TCGA-CN-4737-01A-01D-1434-08	13372332	36563712	212686909	5	13459											
ST3GAL3	6487	broad.mit.edu	37	chr1	44290524	44290524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agattttgaagtcactgagcGaggacacagcctttgcatta	12	11	10	8	1	1	3	1	2	0	1	1	5	1	4	1	1	3	1	1	1	2	4	rs111385873		TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:44290524G>A	ENST00000262915.3	+	5	553	c.376G>A	c.(376-378)Gag>Aag	p.E126K	ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372369.1_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.E111K|ST3GAL3_ENST00000461375.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.E95K|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000361392.4_Intron|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.E126K|ST3GAL3_ENST00000361400.4_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.E95K|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.E111K|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000347631.2_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000372362.2_Intron	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	76					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				gtcactgagcgaggacacagc	0.433													7	28					0	0	0	0	A	44290524	G	A	44290524	3	1	70	1	0	0	0	0	1	0	0	0	15306	1059	37	1	390	1	ST3GAL3	1	44290524	Missense_Mutation	SNP	G	TCGA-CN-4737-01A-01D-1434-08	7726812	44290524	204960097	6	13460											
B4GALT2	8704	broad.mit.edu	37	chr1	44451059	44451059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggtggcgaggatgatGacatcttcaaccggtgagta	9	9	16	7	2	2	3	1	3	1	0	2	5	2	4	1	5	1	2	1	5	2	2			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:44451059G>T	ENST00000356836.6	+	5	1640	c.850G>T	c.(850-852)Gac>Tac	p.D284Y	B4GALT2_ENST00000434555.2_Missense_Mutation_p.D218Y|B4GALT2_ENST00000309519.7_Missense_Mutation_p.D313Y|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000372324.1_Missense_Mutation_p.D284Y	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	284					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CGAGGATGATGACATCTTCAA	0.597													15	62					1.3612e-06	1.45573e-06	1	0	T	44451059	G	T	44451059	3	4	70	1	0	0	0	0	1	0	0	0	1275	1290	45	2	864	2	B4GALT2	1	44451059	Missense_Mutation	SNP	G	TCGA-CN-4737-01A-01D-1434-08	160535	44451059	204799562	7	13461											
TAL1	6886	broad.mit.edu	37	chr1	47685565	47685565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggtcatctgggggcgCgccgccccctcccccacctc	4	5	12	20	3	2	0	1	0	1	0	4	1	3	1	6	4	0	0	6	4	0	0			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:47685565C>T	ENST00000371883.3	-	4	1405	c.829G>A	c.(829-831)Gcg>Acg	p.A277T	TAL1_ENST00000371884.2_Missense_Mutation_p.A275T|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Missense_Mutation_p.A275T			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	275					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTGGGGGCGCGccgccccct	0.701			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								16	16					0	0	0	0	T	47685565	C	T	47685565	3	4	70	1	0	0	0	0	1	0	0	0	15632	768	27	1	176	1	TAL1	1	47685565	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08	3234506	47685565	201565056	8	13462											
FGGY	55277	broad.mit.edu	37	chr1	60139745	60139745	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgcaagaggtggagtcCgttcttgtgggtgctgctgt	4	13	16	8	2	1	1	0	0	1	1	3	2	2	2	1	3	2	4	1	3	1	2	rs114601020	by1000genomes	TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:60139745C>A	ENST00000371218.4	+	15	1708	c.1524C>A	c.(1522-1524)tcC>tcA	p.S508S	FGGY_ENST00000371210.1_Silent_p.S185S|FGGY_ENST00000303721.7_Silent_p.S484S|FGGY_ENST00000371212.1_Silent_p.S396S	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	484					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGGTGGAGTCCGTTCTTGTGG	0.612													9	26					4.68919e-08	5.08546e-08	1	0	A	60139745	C	A	60139745	2	1	70	1	0	0	0	0	0	0	0	1	5916	639	23	3		3	FGGY	1	60139745	Silent	SNP	C	TCGA-CN-4737-01A-01D-1434-08	12454180	60139745	189110876	9	13463											
IGSF8	93185	broad.mit.edu	37	chr1	160062156	160062156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcatgctgcacccaggCgctgggggcacagtggtaca	7	6	16	12	2	0	0	0	0	0	0	1	0	0	0	1	5	3	6	1	5	1	1			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:160062156C>T	ENST00000368086.1	-	5	1858	c.1642G>A	c.(1642-1644)Gcc>Acc	p.A548T	IGSF8_ENST00000314485.7_Missense_Mutation_p.A548T			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	548	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGCACCCAGGCGCTGGGGGCA	0.647													20	107					0	0	0	0	T	160062156	C	T	160062156	3	4	70	1	0	0	0	0	1	0	0	0	7657	768	27	1	207	1	IGSF8	1	160062156	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08	99922411	160062156	89188465	10	13464											
COPA	1314	broad.mit.edu	37	chr1	160261696	160261696	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacccacaatgtactcacgGcaaatggtgatgagctgctg	13	8	10	10	1	1	2	1	2	0	0	1	2	1	2	1	2	4	4	1	2	4	1			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:160261696G>A	ENST00000241704.7	-	30	3400	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	COPA_ENST00000368069.3_Silent_p.C1066C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1057					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTACTCACGGCAAATGGTGA	0.522											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	370					0	0	0	0	A	160261696	G	A	160261696	2	1	70	1	0	0	0	0	0	0	0	1	3757	1195	42	4		4	COPA	1	160261696	Silent	SNP	G	TCGA-CN-4737-01A-01D-1434-08	199540	160261696	88988925	11	13465											
GFPT1	2673	broad.mit.edu	37	chr2	69556851	69556851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccaagcatgatctctttgCgtctttcttgcatggagatc	8	15	8	10	1	3	2	0	1	3	1	6	3	4	2	1	1	3	2	1	1	1	3			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr2:69556851C>T	ENST00000357308.4	-	16	1740	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H	GFPT1_ENST00000361060.4_Missense_Mutation_p.R503H	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	521					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GATCTCTTTGCGTCTTTCTTG	0.408													30	117					0	0	0	0	T	69556851	C	T	69556851	3	4	70	1	0	0	0	0	1	0	0	0	6396	768	27	1	557	1	GFPT1	2	69556851	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08		69556851	173642522	12	13466											
TXNDC9	10190	broad.mit.edu	37	chr2	99949494	99949494	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagaggttacttgtttctgCtgttgagctttccttagtgc	6	17	11	7	0	1	2	0	1	1	1	2	3	2	2	1	1	4	5	1	1	2	6			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr2:99949494C>T	ENST00000264255.3	-	2	435	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TXNDC9_ENST00000409434.1_Silent_p.Q60Q	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	60					cell redox homeostasis		protein binding			lung(1)	1						CTTGTTTCTGCTGTTGAGCTT	0.388													42	143					0	0	0	0	T	99949494	C	T	99949494	2	4	70	1	0	0	0	0	0	0	0	1	16898	796	28	4		4	TXNDC9	2	99949494	Silent	SNP	C	TCGA-CN-4737-01A-01D-1434-08	30392643	99949494	143249879	13	13467											
TTN	7273	broad.mit.edu	37	chr2	179399515	179399515	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggtaaatgatattttCtggtctaatgtcaaagtgtc	10	17	10	4	0	3	1	1	1	2	0	4	1	3	1	0	3	0	2	0	3	5	6			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr2:179399515C>A	ENST00000589042.1	-	358	102051	c.101827G>T	c.(101827-101829)Gaa>Taa	p.E33943*	TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E25003*|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E25070*|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E32302*|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E31375*|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E24878*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32302							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)			ATGATATTTTCTGGTCTAATG	0.368													48	63					2.13384e-23	2.48948e-23	1	0	A	179399515	C	A	179399515	4	1	70	1	0	0	0	0	0	1	0	0	16831	922	32	2	6172	2	TTN	2	179399515	Nonsense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08	79450021	179399515	63799858	14	13468											
TTN	7273	broad.mit.edu	37	chr2	179428692	179428692	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaggtgggttccatgcCaggtaacatttttccgcagt	9	12	11	9	1	0	0	0	0	0	0	2	0	2	0	3	3	3	4	3	3	2	4			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr2:179428692C>A	ENST00000589042.1	-	326	82391	c.82167G>T	c.(82165-82167)ctG>ctT	p.L27389L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.L18449L|TTN_ENST00000342175.6_Silent_p.L18516L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L25748L|TTN_ENST00000342992.6_Silent_p.L24821L|TTN_ENST00000460472.2_Silent_p.L18324L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25748	Fibronectin type-III 99.						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)			GGTTCCATGCCAGGTAACATT	0.468													4	192					0.00909568	0.00933823	1	0	A	179428692	C	A	179428692	2	1	70	1	0	0	0	0	0	0	0	1	16831	581	21	4		4	TTN	2	179428692	Silent	SNP	C	TCGA-CN-4737-01A-01D-1434-08	29177	179428692	63770681	15	13469											
FAM193A	8603	broad.mit.edu	37	chr4	2641515	2641515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggaactgcataataaacaCctgtttgaaaatctggtctt	13	13	8	7	0	2	1	0	1	2	0	2	2	2	2	1	2	3	2	1	2	6	4			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:2641515C>T	ENST00000324666.5	+	4	570	c.219C>T	c.(217-219)caC>caT	p.H73H	FAM193A_ENST00000382839.3_Silent_p.H73H|FAM193A_ENST00000505311.1_Silent_p.H73H|FAM193A_ENST00000545951.1_Silent_p.H73H|FAM193A_ENST00000502458.1_Silent_p.H73H	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	73										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ATAATAAACACCTGTTTGAAA	0.398													20	86					0	0	0	0	T	2641515	C	T	2641515	2	4	70	1	0	0	0	0	0	0	0	1	5567	506	18	4		4	FAM193A	4	2641515	Silent	SNP	C	TCGA-CN-4737-01A-01D-1434-08		2641515	188512761	16	13470											
PROM1	8842	broad.mit.edu	37	chr4	16035066	16035066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagaaataccccaccagagGcatcagaataataaacagca	21	4	6	10	0	1	3	1	0	0	3	1	3	1	3	3	1	3	2	3	1	7	3			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:16035066G>A	ENST00000505450.1	-	4	955	c.343C>T	c.(343-345)Cct>Tct	p.P115S	PROM1_ENST00000510224.1_Missense_Mutation_p.P124S|PROM1_ENST00000539194.1_Missense_Mutation_p.P124S|PROM1_ENST00000540805.1_Missense_Mutation_p.P124S|PROM1_ENST00000508167.1_Missense_Mutation_p.P115S|PROM1_ENST00000543373.1_Missense_Mutation_p.P115S|PROM1_ENST00000447510.2_Missense_Mutation_p.P124S|PROM1_ENST00000502943.1_5'UTR	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	124					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CCCACCAGAGGCATCAGAATA	0.428													7	35					0	0	0	0	A	16035066	G	A	16035066	3	1	70	1	0	0	0	0	1	0	0	0	12635	1203	42	4	2319	4	PROM1	4	16035066	Missense_Mutation	SNP	G	TCGA-CN-4737-01A-01D-1434-08	13393551	16035066	175119210	17	13471											
EPHA5	2044	broad.mit.edu	37	chr4	66270139	66270139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccaacaaaatgactccCactgtcacagacacagcaat	16	6	5	14	0	1	2	1	1	0	1	2	2	2	2	2	0	3	1	2	0	4	0			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:66270139C>T	ENST00000273854.3	-	8	2343	c.1743G>A	c.(1741-1743)gtG>gtA	p.V581V	EPHA5_ENST00000354839.4_Silent_p.V581V|EPHA5_ENST00000511294.1_Silent_p.V582V|EPHA5_ENST00000432638.2_Silent_p.V418V	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	581					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAATGACTCCCACTGTCACAG	0.473										TSP Lung(17;0.13)			10	100					0	0	0	0	T	66270139	C	T	66270139	2	4	70	1	0	0	0	0	0	0	0	1	5208	581	21	4		4	EPHA5	4	66270139	Silent	SNP	C	TCGA-CN-4737-01A-01D-1434-08	50235073	66270139	124884137	18	13472											
GC	2638	broad.mit.edu	37	chr4	72618359	72618359	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattttgcttttagtcgcTctgccagtctgaaaaaccat	10	14	7	10	1	2	1	0	1	2	0	3	1	2	1	2	0	3	3	2	0	4	4			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:72618359T>C	ENST00000273951.8	-	11	1614	c.1271A>G	c.(1270-1272)gAg>gGg	p.E424G	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.E443G|GC_ENST00000513476.1_Missense_Mutation_p.E424G	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	424	Albumin 3.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTTTAGTCGCTCTGCCAGTCT	0.373													18	157					0	0	0	0	C	72618359	T	C	72618359	3	2	70	1	0	0	0	0	1	0	0	0	6331	1551	54	5	161	5	GC	4	72618359	Missense_Mutation	SNP	T	TCGA-CN-4737-01A-01D-1434-08	6348220	72618359	118535917	19	13473											
COX18	285521	broad.mit.edu	37	chr4	73923918	73923918	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacttggtcgatggtattcgGcaaagttggcgaaatccagg	10	10	14	7	3	0	0	0	0	0	0	3	3	1	0	1	5	0	3	1	5	3	4			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:73923918G>A	ENST00000295890.4	-	6	1006	c.915C>T	c.(913-915)tgC>tgT	p.C305C	COX18_ENST00000507544.2_Silent_p.C306C	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	305					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGGTATTCGGCAAAGTTGGC	0.393													4	193					0	0	0	0	A	73923918	G	A	73923918	2	1	70	1	0	0	0	0	0	0	0	1	3797	1195	42	4		4	COX18	4	73923918	Silent	SNP	G	TCGA-CN-4737-01A-01D-1434-08	1305559	73923918	117230358	20	13474											
SHROOM3	57619	broad.mit.edu	37	chr4	77675899	77675899	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaacgaggaagagggtctcGctgcctcagtggccacctcc	8	6	14	13	2	2	1	1	0	1	1	4	4	3	3	4	4	2	1	4	4	2	0			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:77675899G>A	ENST00000296043.6	+	7	5216	c.4263G>A	c.(4261-4263)tcG>tcA	p.S1421S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1421					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGAGGGTCTCGCTGCCTCAGT	0.607													13	61					0	0	0	0	A	77675899	G	A	77675899	2	1	70	1	0	0	0	0	0	0	0	1	14383	1074	38	1		1	SHROOM3	4	77675899	Silent	SNP	G	TCGA-CN-4737-01A-01D-1434-08	3751981	77675899	113478377	21	13475											
FAM198B	51313	broad.mit.edu	37	chr4	159091598	159091598	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccaacagctgcaaataacGaagcatgtgaatctgttacc	14	8	7	12	1	1	1	0	1	1	0	1	2	1	1	3	0	6	4	3	0	6	2			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:159091598G>A	ENST00000592057.1	-	2	1332	c.930C>T	c.(928-930)ttC>ttT	p.F310F	FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_Intron			Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	0						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGCAAATAACGAAGCATGTGA	0.463													27	68					0	0	0	0	A	159091598	G	A	159091598	2	1	70	1	0	0	0	0	0	0	0	1	5572	1073	37	1		1	FAM198B	4	159091598	Silent	SNP	G	TCGA-CN-4737-01A-01D-1434-08	81415699	159091598	32062678	22	13476											
FAT1	2195	broad.mit.edu	37	chr4	187518256	187518256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgcagtgataggagccGtgcgtgttctcacagagggc	8	9	15	9	2	1	2	1	1	1	1	2	3	1	3	1	2	3	3	1	2	1	3			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:187518256G>A	ENST00000441802.2	-	25	12647	c.12438C>T	c.(12436-12438)caC>caT	p.H4146H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4146	EGF-like 5; calcium-binding (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATAGGAGCCGTGCGTGTTCT	0.587										HNSCC(5;0.00058)			10	50					0	0	0	0	A	187518256	G	A	187518256	2	1	70	1	0	0	0	0	0	0	0	1	5734	1136	40	1		1	FAT1	4	187518256	Silent	SNP	G	TCGA-CN-4737-01A-01D-1434-08	28426658	187518256	3636020	23	13477											
KIF4B	285643	broad.mit.edu	37	chr5	154394335	154394335	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attctctaggaggtaacagcCacactcttatgatagcctgt	11	12	8	10	0	2	1	0	1	2	0	3	2	2	2	2	2	3	1	2	2	4	5			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr5:154394335C>G	ENST00000435029.4	+	1	1076	c.916C>G	c.(916-918)Cac>Gac	p.H306D		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	306	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGGTAACAGCCACACTCTTAT	0.438													57	175					0	0	0	0	G	154394335	C	G	154394335	3	3	70	1	0	0	0	0	1	0	0	0	8355	594	21	4	918	4	KIF4B	5	154394335	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08		154394335	26520925	24	13478											
EXOC2	55770	broad.mit.edu	37	chr6	564672	564672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctccgcgggtaagcttcaCcagggagtgcattacttcct	7	10	12	12	2	1	0	1	0	0	0	3	1	3	1	3	3	3	4	3	3	2	4			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr6:564672C>T	ENST00000230449.4	-	15	1675	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	EXOC2_ENST00000448181.3_Missense_Mutation_p.V109M	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	514					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTAAGCTTCACCAGGGAGTGC	0.507													16	94					0	0	0	0	T	564672	C	T	564672	3	4	70	1	0	0	0	0	1	0	0	0	5339	507	18	4	1290	4	EXOC2	6	564672	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08		564672	170550395	25	13479											
PKHD1	5314	broad.mit.edu	37	chr6	51927390	51927390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaatctgccacctgtaccCtggggtggcttcagtcagtt	7	11	11	12	0	3	0	2	0	1	0	3	1	3	0	3	3	2	3	3	3	2	3			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr6:51927390C>T	ENST00000371117.3	-	14	1320	c.1045G>A	c.(1045-1047)Ggg>Agg	p.G349R	PKHD1_ENST00000340994.4_Missense_Mutation_p.G349R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	349					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACCTGTACCCTGGGGTGGCT	0.478													44	209					0	0	0	0	T	51927390	C	T	51927390	3	4	70	1	0	0	0	0	1	0	0	0	12043	681	24	4	11434	4	PKHD1	6	51927390	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08	51362718	51927390	119187677	26	13480											
ENPP3	5169	broad.mit.edu	37	chr6	132006590	132006590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacatgtacgaagggcctGccccccgcatccgagctcat	8	8	9	16	3	2	0	1	0	1	0	3	2	3	0	5	1	4	3	5	1	3	2			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr6:132006590G>T	ENST00000414305.1	+	14	1535	c.1207G>T	c.(1207-1209)Gcc>Tcc	p.A403S	ENPP3_ENST00000358229.5_Missense_Mutation_p.A403S|ENPP3_ENST00000357639.3_Missense_Mutation_p.A403S			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	403	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CGAAGGGCCTGCCCCCCGCAT	0.363													51	269					2.41709e-19	2.737e-19	1	0	T	132006590	G	T	132006590	3	4	70	1	0	0	0	0	1	0	0	0	5169	1319	46	4	1257	4	ENPP3	6	132006590	Missense_Mutation	SNP	G	TCGA-CN-4737-01A-01D-1434-08	80079200	132006590	39108477	27	13481											
SYNE1	23345	broad.mit.edu	37	chr6	152660381	152660381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcattttcttaccgtttGctctgtttgttgaatgtctt	4	24	6	7	1	4	1	1	1	3	0	4	1	4	1	1	0	2	4	1	0	2	9			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr6:152660381G>T	ENST00000367255.5	-	75	12947	c.12346C>A	c.(12346-12348)Caa>Aaa	p.Q4116K	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q4045K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q4045K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q3981K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q4116K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4116					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTACCGTTTGCTCTGTTTGT	0.378										HNSCC(10;0.0054)			32	70					1.99505e-19	2.29282e-19	1	0	T	152660381	G	T	152660381	3	4	70	1	0	0	0	0	1	0	0	0	15536	1328	46	4	14408	4	SYNE1	6	152660381	Missense_Mutation	SNP	G	TCGA-CN-4737-01A-01D-1434-08	20653791	152660381	18454686	28	13482											
RBAK	57786	broad.mit.edu	37	chr7	5104738	5104738	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggaaagttattcaatgagTtgtcatactatactgaacat	14	14	8	5	0	2	2	2	2	0	0	2	3	2	3	0	1	3	2	0	1	7	6			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr7:5104738T>C	ENST00000396912.1	+	5	2170	c.1651T>C	c.(1651-1653)Ttg>Ctg	p.L551L	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Silent_p.L551L|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	551	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATTCAATGAGTTGTCATACTA	0.388													16	112					0	0	0	0	C	5104738	T	C	5104738	2	2	70	1	0	0	0	0	0	0	0	1	13182	1722	60	5		5	RBAK	7	5104738	Silent	SNP	T	TCGA-CN-4737-01A-01D-1434-08		5104738	154033925	29	13483											
RNF216	54476	broad.mit.edu	37	chr7	5662726	5662726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgtggcaggttctgcGgaacgggcctcgggagggcc	4	7	20	10	3	1	0	0	0	1	0	2	2	1	2	2	7	2	3	2	7	1	1			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr7:5662726G>A	ENST00000425013.2	-	17	2590	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.P846L	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	789	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CAGGTTCTGCGGAACGGGCCT	0.627													13	75					0	0	0	0	A	5662726	G	A	5662726	3	1	70	1	0	0	0	0	1	0	0	0	13565	1116	39	1	238	1	RNF216	7	5662726	Missense_Mutation	SNP	G	TCGA-CN-4737-01A-01D-1434-08	557988	5662726	153475937	30	13484											
SRRT	51593	broad.mit.edu	37	chr7	100484755	100484755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accccaacgaggacgagatgCccaatcgctgtgggatcatc	11	6	11	13	3	1	1	1	0	0	1	3	5	1	3	3	2	2	1	3	2	2	0			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr7:100484755C>T	ENST00000388793.4	+	15	2126	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	SRRT_ENST00000347433.4_Missense_Mutation_p.P637S|SRRT_ENST00000432932.1_Missense_Mutation_p.P636S|SRRT_ENST00000457580.2_Missense_Mutation_p.P637S	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	637					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGACGAGATGCCCAATCGCTG	0.572													5	283					0	0	0	0	T	100484755	C	T	100484755	3	4	70	1	0	0	0	0	1	0	0	0	15262	739	26	4	1963	4	SRRT	7	100484755	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08	94822029	100484755	58653908	31	13485											
CHD7	55636	broad.mit.edu	37	chr8	61765872	61765872	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagaggaagaagaaacCgatggcagcgggaaggagag	19	1	17	4	2	0	5	0	0	0	5	0	9	0	7	1	4	2	1	1	4	6	0			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr8:61765872C>T	ENST00000423902.2	+	31	7067	c.6588C>T	c.(6586-6588)acC>acT	p.T2196T	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2196	Glu-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGAAGAAACCGATGGCAGCG	0.532													8	60					0	0	0	0	T	61765872	C	T	61765872	2	4	70	1	0	0	0	0	0	0	0	1	3359	639	23	1		1	CHD7	8	61765872	Silent	SNP	C	TCGA-CN-4737-01A-01D-1434-08		61765872	84598150	32	13486											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885104	88885104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcgagaagagaaggccaCactgggaatgtcgttctccg	11	6	15	9	3	1	2	0	0	1	2	3	6	1	3	2	3	0	1	2	3	3	1			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr8:88885104C>T	ENST00000319675.3	-	1	1192	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	366										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAGAAGGCCACACTGGGAATG	0.592													19	183					0	0	0	0	T	88885104	C	T	88885104	3	4	70	1	0	0	0	0	1	0	0	0	4305	478	17	4	95	4	DCAF4L2	8	88885104	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08	27119232	88885104	57478918	33	13487											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159065	18159065	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcctgtgatgacctttcccTactttataggcctaagcatg	8	14	8	11	0	0	2	0	2	0	0	2	2	2	2	4	1	2	1	4	1	4	6			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr11:18159065T>C	ENST00000396275.2	+	3	677	c.316T>C	c.(316-318)Tac>Cac	p.Y106H		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	106						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GACCTTTCCCTACTTTATAGG	0.552													44	230					0	0	0	0	C	18159065	T	C	18159065	3	2	70	1	0	0	0	0	1	0	0	0	9838	1522	53	5	318	5	MRGPRX3	11	18159065	Missense_Mutation	SNP	T	TCGA-CN-4737-01A-01D-1434-08		18159065	116847451	34	13488											
HARBI1	283254	broad.mit.edu	37	chr11	46637146	46637146	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctatctttgtgcataccCgcttcaaactgactactgag	10	12	7	12	1	2	2	1	2	1	0	2	2	2	2	1	0	5	3	1	0	4	5			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr11:46637146C>A	ENST00000326737.3	-	2	889	c.642G>T	c.(640-642)gcG>gcT	p.A214A		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	214						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TGTGCATACCCGCTTCAAACT	0.498													37	215					3.75037e-06	3.95587e-06	1	0	A	46637146	C	A	46637146	2	1	70	1	0	0	0	0	0	0	0	1	7008	639	23	3		3	HARBI1	11	46637146	Silent	SNP	C	TCGA-CN-4737-01A-01D-1434-08	28478081	46637146	88369370	35	13489											
MS4A10	341116	broad.mit.edu	37	chr11	60561573	60561573	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaatgtaccccaactcCacggtgagtacccaggcctg	10	7	11	13	1	0	2	0	1	0	1	1	3	1	2	5	3	3	2	5	3	4	2			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr11:60561573C>A	ENST00000308287.1	+	5	585	c.489C>A	c.(487-489)tcC>tcA	p.S163S		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	163						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						ACCCCAACTCCACGGTGAGTA	0.567													4	159					0.00909568	0.00933823	1	0	A	60561573	C	A	60561573	2	1	70	1	0	0	0	0	0	0	0	1	9925	581	21	4		4	MS4A10	11	60561573	Silent	SNP	C	TCGA-CN-4737-01A-01D-1434-08	13924427	60561573	74444943	36	13490											
NOP2	4839	broad.mit.edu	37	chr12	6666429	6666429	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccggtgtttgtgtgtcTgtgcccttgggaggggcatt	4	13	16	8	1	1	0	0	0	1	0	1	1	1	1	2	4	2	2	2	4	0	3			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr12:6666429T>A	ENST00000541778.1	-	16	2645	c.2157A>T	c.(2155-2157)acA>acT	p.T719T	NOP2_ENST00000545200.1_3'UTR|NOP2_ENST00000537442.1_Silent_p.T723T|NOP2_ENST00000399466.2_Silent_p.T719T|NOP2_ENST00000382421.3_Silent_p.T756T|NOP2_ENST00000322166.5_Silent_p.T723T|NOP2_ENST00000542015.1_5'UTR			P46087	NOP2_HUMAN	NOP2 nucleolar protein	723					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TTTGTGTGTCTGTGCCCTTGG	0.537													62	436					0	0	0	0	A	6666429	T	A	6666429	2	1	70	1	0	0	0	0	0	0	0	1	10608	1567	55	5		5	NOP2	12	6666429	Silent	SNP	T	TCGA-CN-4737-01A-01D-1434-08		6666429	127185466	37	13491											
SOX5	6660	broad.mit.edu	37	chr12	23689485	23689485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccaccaggcaggtgcgCtttggcctgggcttgtactt	5	11	12	13	1	0	0	0	0	0	0	1	0	1	0	4	4	2	4	4	4	1	4			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr12:23689485C>A	ENST00000546136.1	-	13	1853	c.1851G>T	c.(1849-1851)aaG>aaT	p.K617N	SOX5_ENST00000396007.2_Missense_Mutation_p.K244N|SOX5_ENST00000309359.1_Missense_Mutation_p.K617N|SOX5_ENST00000541536.1_Missense_Mutation_p.K509N|SOX5_ENST00000451604.2_Missense_Mutation_p.K630N|SOX5_ENST00000537393.1_Missense_Mutation_p.K595N|SOX5_ENST00000545921.1_Missense_Mutation_p.K620N|SOX5_ENST00000381381.2_Missense_Mutation_p.K509N			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	630					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K630K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GGCAGGTGCGCTTTGGCCTGG	0.517													33	136					1.22384e-17	1.36573e-17	1	0	A	23689485	C	A	23689485	3	1	70	1	0	0	0	0	1	0	0	0	15042	796	28	4	409	4	SOX5	12	23689485	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08	17023056	23689485	110162410	38	13492											
PTPRB	5787	broad.mit.edu	37	chr12	70956847	70956847	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaaggacaggtgcctggtGgagttctctgtgatcctcag	7	10	15	9	1	2	1	1	1	1	0	4	4	3	4	2	5	1	1	2	5	1	1			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr12:70956847G>A	ENST00000334414.6	-	16	3989	c.3945C>T	c.(3943-3945)tcC>tcT	p.S1315S	PTPRB_ENST00000550857.1_Silent_p.S1007S|PTPRB_ENST00000451516.2_Silent_p.S1007S|PTPRB_ENST00000261266.5_Silent_p.S1097S|PTPRB_ENST00000550358.1_Silent_p.S1227S|PTPRB_ENST00000551525.1_Silent_p.S1314S|PTPRB_ENST00000538708.1_Silent_p.S1007S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1097	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGTGCCTGGTGGAGTTCTCTG	0.562													4	47					0	0	0	0	A	70956847	G	A	70956847	2	1	70	1	0	0	0	0	0	0	0	1	12878	1335	47	4		4	PTPRB	12	70956847	Silent	SNP	G	TCGA-CN-4737-01A-01D-1434-08	47267362	70956847	62895048	39	13493											
USPL1	10208	broad.mit.edu	37	chr13	31205139	31205139	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaattatattgctattgaCggtggaaaagttttgaacag	15	13	10	3	1	0	3	0	2	0	1	0	4	0	4	0	2	2	2	0	2	7	7			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr13:31205139C>T	ENST00000255304.4	+	4	738	c.396C>T	c.(394-396)gaC>gaT	p.D132D	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	132					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTGCTATTGACGGTGGAAAAG	0.368													24	49					0	0	0	0	T	31205139	C	T	31205139	2	4	70	1	0	0	0	0	0	0	0	1	17188	535	19	1		1	USPL1	13	31205139	Silent	SNP	C	TCGA-CN-4737-01A-01D-1434-08		31205139	83964739	40	13494											
LCP1	3936	broad.mit.edu	37	chr13	46701815	46701815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaggtcttctggcagggCatacactcttgctccaattt	9	12	8	12	0	3	0	0	0	3	0	4	0	4	0	2	3	3	3	2	3	3	4			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr13:46701815C>G	ENST00000398576.2	-	19	2183	c.1795G>C	c.(1795-1797)Gcc>Ccc	p.A599P	LCP1_ENST00000323076.2_Missense_Mutation_p.A599P|LCP1_ENST00000435666.2_Missense_Mutation_p.A168P			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	599	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCTGGCAGGGCATACACTCTT	0.488			T	BCL6	NHL								10	294					0	0	0	0	G	46701815	C	G	46701815	3	3	70	1	0	0	0	0	1	0	0	0	8744	710	25	4	92	4	LCP1	13	46701815	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08	15496676	46701815	68468063	41	13495											
TEP1	7011	broad.mit.edu	37	chr14	20854732	20854732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcagcaggtcccgctccCcatgcatgtctcggaaagtg	8	8	11	14	2	2	0	1	0	1	0	5	1	4	1	3	2	3	4	3	2	1	0			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr14:20854732C>T	ENST00000262715.5	-	19	2775	c.2735G>A	c.(2734-2736)gGg>gAg	p.G912E	TEP1_ENST00000556935.1_Missense_Mutation_p.G804E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	912					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTCCCGCTCCCCATGCATGTC	0.622													9	28					0	0	0	0	T	20854732	C	T	20854732	3	4	70	1	0	0	0	0	1	0	0	0	15853	623	22	4	5296	4	TEP1	14	20854732	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08		20854732	86494808	42	13496											
BCL11B	64919	broad.mit.edu	37	chr14	99641386	99641386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccacgttctccatgaccttgCccagcaccagcgccttctcg	6	9	7	19	3	2	1	0	1	2	0	4	1	2	1	6	0	3	2	6	0	0	3			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr14:99641386C>T	ENST00000345514.2	-	3	1840	c.1574G>A	c.(1573-1575)gGc>gAc	p.G525D	BCL11B_ENST00000443726.2_Missense_Mutation_p.G402D|BCL11B_ENST00000357195.3_Missense_Mutation_p.G596D	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	596						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CATGACCTTGCCCAGCACCAG	0.741			T	TLX3	T-ALL								9	61					0	0	0	0	T	99641386	C	T	99641386	3	4	70	1	0	0	0	0	1	0	0	0	1368	739	26	4	901	4	BCL11B	14	99641386	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08	78786654	99641386	7708154	43	13497											
ARMC5	79798	broad.mit.edu	37	chr16	31477726	31477726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccgcctcccctttcttccGggccctgctgtcaggcagct	3	10	9	19	2	2	0	1	0	1	0	4	0	4	0	6	2	2	3	6	2	0	2			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr16:31477726G>A	ENST00000408912.3	+	8	2926	c.2609G>A	c.(2608-2610)cGg>cAg	p.R870Q	ARMC5_ENST00000268314.4_Missense_Mutation_p.R775Q|ARMC5_ENST00000412665.2_Missense_Mutation_p.R419Q|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000538189.1_Missense_Mutation_p.R807Q|ARMC5_ENST00000563544.1_Missense_Mutation_p.R775Q			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	775							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCTTTCTTCCGGGCCCTGCTG	0.667													8	30					0	0	0	0	A	31477726	G	A	31477726	3	1	70	1	0	0	0	0	1	0	0	0	958	1116	39	1	2660	1	ARMC5	16	31477726	Missense_Mutation	SNP	G	TCGA-CN-4737-01A-01D-1434-08		31477726	58877027	44	13498											
TP53	7157	broad.mit.edu	37	chr17	7578427	7578427	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacaacctccgtcatgTgctgtgactgcttgtagatg	7	12	10	12	1	2	2	2	1	0	1	3	2	3	2	3	0	3	3	3	0	2	2			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:7578427T>A	ENST00000420246.2	-	5	635	c.503A>T	c.(502-504)cAc>cTc	p.H168L	TP53_ENST00000413465.2_Missense_Mutation_p.H168L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H168L|TP53_ENST00000269305.4_Missense_Mutation_p.H168L|TP53_ENST00000445888.2_Missense_Mutation_p.H168L|TP53_ENST00000359597.4_Missense_Mutation_p.H168L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	168	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> Y (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H168R(12)|p.H168P(10)|p.0?(8)|p.H168L(8)|p.V157_C176del20(1)|p.H36L(1)|p.Q167_H168>YL(1)|p.H168fs*69(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.H168fs*2(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.S149fs*72(1)|p.H75L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCCGTCATGTGCTGTGACTG	0.652		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	48					0	0	0	0	A	7578427	T	A	7578427	3	1	70	1	0	0	0	0	1	0	0	0	16476	1696	59	5	795	5	TP53	17	7578427	Missense_Mutation	SNP	T	TCGA-CN-4737-01A-01D-1434-08		7578427	73616783	45	13499											
MFSD6L	162387	broad.mit.edu	37	chr17	8701070	8701070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatctgaatggggaggaCggaccaccagctccagagga	13	4	14	10	1	1	3	0	1	1	2	2	7	2	7	3	5	1	1	3	5	2	0			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:8701070C>T	ENST00000329805.4	-	1	1597	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	457						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						ATGGGGAGGACGGACCACCAG	0.612													35	128					0	0	0	0	T	8701070	C	T	8701070	3	4	70	1	0	0	0	0	1	0	0	0	9605	536	19	1	395	1	MFSD6L	17	8701070	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08	1122643	8701070	72494140	46	13500											
TTC25	83538	broad.mit.edu	37	chr17	40117329	40117329	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaatttataggaggccttCgggagaattagagcaaagac	16	8	12	5	1	0	4	0	0	0	4	1	6	0	5	1	3	1	1	1	3	6	5			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:40117329C>T	ENST00000591658.1	+	0	1718							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				AGGAGGCCTTCGGGAGAATTA	0.463													7	30					0	0	0	0	T	40117329	C	T	40117329	1	4	70	0	1	0	0	0	0	0	0	0	16789	893	31	1		1	TTC25	17	40117329	RNA	SNP	C	TCGA-CN-4737-01A-01D-1434-08	31416259	40117329	41077881	47	13501											
KIF18B	146909	broad.mit.edu	37	chr17	43012716	43012719	+	Frame_Shift_Del	DEL	TGCC	TGCC	-																															cacggtggtcaggtacatgaTgccggggtccccctcccttc																										TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:43012716_43012719delTGCC	ENST00000587309.1	-	3	402_405	c.379_382delGGCA	c.(379-384)tcfs	p.GI127fs	KIF18B_ENST00000590129.1_Frame_Shift_Del_p.GI136fs|KIF18B_ENST00000438933.2_Frame_Shift_Del_p.GI127fs|KIF18B_ENST00000339151.4_Frame_Shift_Del_p.GI127fs|KIF18B_ENST00000593135.1_Frame_Shift_Del_p.GI127fs	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				AGGTACATGATGCCGGGGTCCCCC	0.637													9	58	---	---	---	---					-	43012719	TGCC	-	43012716	7	5	70	1	0	1	0	1	0	0	0	0	8332	1464	51	0	2240	0	KIF18B	17	43012716	Frame_Shift_Del	DEL	TGCC	TCGA-CN-4737-01A-01D-1434-08	2895387	43012716	38182494	48	13502											
PRKAR1A	5573	broad.mit.edu	37	chr17	66519029	66519029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggtgctatcagcgctgagGtctacacggaggaagatgcg	10	7	16	8	3	2	2	1	1	1	1	2	5	2	4	0	4	4	2	0	4	3	2			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:66519029G>A	ENST00000589228.1	+	3	438	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	PRKAR1A_ENST00000586397.1_Missense_Mutation_p.V104I|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.V104I|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.V104I|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.V104I|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.V104I	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	104	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)					CAGCGCTGAGGTCTACACGGA	0.512			"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				5	169					0	0	0	0	A	66519029	G	A	66519029	3	1	70	1	0	0	0	0	1	0	0	0	12583	1261	44	4	316	4	PRKAR1A	17	66519029	Missense_Mutation	SNP	G	TCGA-CN-4737-01A-01D-1434-08	23506313	66519029	14676181	49	13503											
MYOM1	8736	broad.mit.edu	37	chr18	3215034	3215034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggaggaggcggacgccCgacggaaggcctcggactcc	8	2	19	12	5	0	0	0	0	0	0	2	7	1	6	3	8	0	0	3	8	1	0			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr18:3215034C>T	ENST00000356443.4	-	2	521	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R63Q|MYOM1_ENST00000400569.3_Missense_Mutation_p.R63Q	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	63						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGCGGACGCCCGACGGAAGGC	0.687													11	33					0	0	0	0	T	3215034	C	T	3215034	3	4	70	1	0	0	0	0	1	0	0	0	10161	652	23	1	5017	1	MYOM1	18	3215034	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08		3215034	74862214	50	13504											
LMNB2	84823	broad.mit.edu	37	chr19	2434446	2434446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcgtccagcatcttcCggaacttgtcccgctccccg	4	10	9	18	4	1	0	0	0	1	0	5	1	5	1	6	2	2	2	6	2	1	3			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr19:2434446C>T	ENST00000325327.3	-	7	1111	c.1049G>A	c.(1048-1050)cGg>cAg	p.R350Q	LMNB2_ENST00000582871.1_Missense_Mutation_p.R330Q			Q03252	LMNB2_HUMAN	lamin B2	330	Coil 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		CAGCATCTTCCGGAACTTGTC	0.667													6	77					0	0	0	0	T	2434446	C	T	2434446	3	4	70	1	0	0	0	0	1	0	0	0	8905	652	23	1	837	1	LMNB2	19	2434446	Missense_Mutation	SNP	C	TCGA-CN-4737-01A-01D-1434-08		2434446	56694537	51	13505											
ZNF676	163223	broad.mit.edu	37	chr19	22362786	22362786	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtatgaattttcttatgaTaactaacagttgaggatgac	14	14	8	5	0	1	4	0	4	1	0	1	5	1	5	0	1	2	2	0	1	5	7			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr19:22362786T>A	ENST00000397121.2	-	3	2050	c.1733A>T	c.(1732-1734)tAt>tTt	p.Y578F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTTCTTATGATAACTAACAGT	0.353													14	98					0	0	0	0	A	22362786	T	A	22362786	3	1	70	1	0	0	0	0	1	0	0	0	18178	1406	49	5	37	5	ZNF676	19	22362786	Missense_Mutation	SNP	T	TCGA-CN-4737-01A-01D-1434-08	19928340	22362786	36766197	52	13506											
ZNF611	81856	broad.mit.edu	37	chr19	53208627	53208638	+	In_Frame_Del	DEL	TATGAATTCTAG	TATGAATTCTAG	-																															cttgtaaggtttctctccacTatgaattctagtatgttttg																								rs151210254	by1000genomes	TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr19:53208627_53208638delTATGAATTCTAG	ENST00000543227.1	-	6	1944_1955	c.1670_1681delCTAGAATTCATA	c.(1669-1683)agt>a	p.TRIHS557del	ZNF611_ENST00000595798.1_In_Frame_Del_p.TRIHS488del|ZNF611_ENST00000540744.1_In_Frame_Del_p.TRIHS557del|ZNF611_ENST00000602162.1_In_Frame_Del_p.TRIHS488del|ZNF611_ENST00000319783.1_In_Frame_Del_p.TRIHS557del|ZNF611_ENST00000453741.2_In_Frame_Del_p.TRIHS488del	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TTCTCTCCACTATGAATTCTAGTATGTTTTGC	0.406													62	403	---	---	---	---					-	53208638	TATGAATTCTAG	-	53208627	7	5	70	1	0	1	0	1	0	0	0	0	18132	1522	53	0	440	0	ZNF611	19	53208627	In_Frame_Del	DEL	TATGAATTCTAG	TCGA-CN-4737-01A-01D-1434-08	30845841	53208627	5920356	53	13507											
GZF1	64412	broad.mit.edu	37	chr20	23350773	23350773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtctttccttgtcattgtaGatggctcgcccaagaacgat	9	13	9	10	2	2	2	1	0	1	2	4	3	3	2	2	1	1	2	2	1	3	4			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr20:23350773G>A	ENST00000338121.5	+	6	1908	c.1831G>A	c.(1831-1833)Gat>Aat	p.D611N	GZF1_ENST00000542987.1_Missense_Mutation_p.D120N|GZF1_ENST00000377051.2_Missense_Mutation_p.D611N|GZF1_ENST00000544236.1_Missense_Mutation_p.D135N			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	611					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGTCATTGTAGATGGCTCGCC	0.418													30	67					0	0	0	0	A	23350773	G	A	23350773	3	1	70	1	0	0	0	0	1	0	0	0	6964	942	33	2	1849	2	GZF1	20	23350773	Missense_Mutation	SNP	G	TCGA-CN-4737-01A-01D-1434-08		23350773	39674747	54	13508											
BAGE2	85319	broad.mit.edu	37	chr21	11042402	11042406	+	RNA	DEL	AAAAC	AAAAC	-																															cacacaccccaaaaaaaaaaAaaacacctcataatgtttta																								rs113265926		TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr21:11042402_11042406delAAAAC	ENST00000470054.1	-	0	774									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aaaaaaaaaaaaaacacctcataat	0.424													6	3	---	---	---	---					-	11042406	AAAAC	-	11042402	6	5	70	0	1	1	0	1	0	0	0	0	1296	29	1	0		0	BAGE2	21	11042402	RNA	DEL	AAAAC	TCGA-CN-4737-01A-01D-1434-08		11042402	37087493	55	13509											
UBE4B	10277	broad.mit.edu	37	chr1	10207077	10207077	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacttgacgagagcttcctGagaagatgtctgaattttta	11	14	9	7	1	1	5	0	3	1	3	2	7	2	5	1	0	2	1	1	0	4	6			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:10207077G>A	ENST00000377157.3	+	18	2846	c.1785G>A	c.(1783-1785)ctG>ctA	p.L595L	UBE4B_ENST00000253251.8_Silent_p.L711L|UBE4B_ENST00000343090.6_Silent_p.L840L	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	840					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AGAGCTTCCTGAGAAGATGTC	0.527													17	113					0	0	0	0	A	10207077	G	A	10207077	2	1	71	1	0	0	0	0	0	0	0	1	16979	1277	45	2		2	UBE4B	1	10207077	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08		10207077	239043544	1	13510											
ZNF436	80818	broad.mit.edu	37	chr1	23688996	23688996	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggactcgatagtgtttgatGagatcagatctctcactgaa	11	13	10	7	1	3	4	2	3	1	2	5	7	3	5	0	1	0	1	0	1	2	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:23688996G>A	ENST00000314011.4	-	4	1015	c.879C>T	c.(877-879)ctC>ctT	p.L293L	ZNF436_ENST00000374608.3_Silent_p.L293L|ZNF436_ENST00000374609.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L293L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGTGTTTGATGAGATCAGATC	0.527													14	144					0	0	0	0	A	23688996	G	A	23688996	2	1	71	1	0	0	0	0	0	0	0	1	18004	1277	45	2		2	ZNF436	1	23688996	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	13481919	23688996	225561625	2	13511											
PTPRU	10076	broad.mit.edu	37	chr1	29644357	29644357	+	Missense_Mutation	SNP	C	C	T																															ccgcagcatggacgtcctgcCgcccgaccgctgcctgccct																										TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:29644357C>T	ENST00000373779.3	+	25	3740	c.3611C>T	c.(3610-3612)cCg>cTg	p.P1204L	PTPRU_ENST00000345512.3_Missense_Mutation_p.P1214L|PTPRU_ENST00000323874.8_Missense_Mutation_p.P1210L|PTPRU_ENST00000460170.2_Missense_Mutation_p.P1210L|PTPRU_ENST00000428026.2_Missense_Mutation_p.P1201L|PTPRU_ENST00000356870.3_Missense_Mutation_p.P1210L	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1214	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GACGTCCTGCCGCCCGACCGC	0.632													12	64					0	0	0	0	T	29644357	C	T	29644357	3	4	71	1	0	0	0	0	1	0	0	0	12895	652	23	1	3765	1	PTPRU	1	29644357	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	5955361	29644357	219606264	3	13512	119	2									
PTPRU	10076	broad.mit.edu	37	chr1	29644358	29644358	+	Silent	SNP	G	G	C																															cgcagcatggacgtcctgccGcccgaccgctgcctgccctt																										TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:29644358G>C	ENST00000373779.3	+	25	3741	c.3612G>C	c.(3610-3612)ccG>ccC	p.P1204P	PTPRU_ENST00000345512.3_Silent_p.P1214P|PTPRU_ENST00000323874.8_Silent_p.P1210P|PTPRU_ENST00000460170.2_Silent_p.P1210P|PTPRU_ENST00000428026.2_Silent_p.P1201P|PTPRU_ENST00000356870.3_Silent_p.P1210P	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1214	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACGTCCTGCCGCCCGACCGCT	0.632													12	63					0	0	0	0	C	29644358	G	C	29644358	2	2	71	1	0	0	0	0	0	0	0	1	12895	1074	38	3		3	PTPRU	1	29644358	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	1	29644358	219606263	4	13513	119	2									
CCDC24	149473	broad.mit.edu	37	chr1	44461305	44461305	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggagtatttgaggccttgCcacccctctgaggcagccct	7	9	12	13	0	1	2	0	2	1	0	1	4	1	3	5	3	2	2	5	3	1	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:44461305C>T	ENST00000372318.3	+	7	756	c.585C>T	c.(583-585)tgC>tgT	p.C195C	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	195										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGAGGCCTTGCCACCCCTCTG	0.647													3	25					0	0	0	0	T	44461305	C	T	44461305	2	4	71	1	0	0	0	0	0	0	0	1	2825	747	26	4		4	CCDC24	1	44461305	Silent	SNP	C	TCGA-CN-4738-01A-02D-1512-08	14816947	44461305	204789316	5	13514											
HSPB11	51668	broad.mit.edu	37	chr1	54387365	54387365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgttccttctgcagaaaCgctatgcacagatgcaaaat	13	11	7	10	1	1	2	0	0	1	2	2	2	2	2	1	0	5	5	1	0	5	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:54387365C>A	ENST00000194214.5	-	6	783	c.394G>T	c.(394-396)Gtt>Ttt	p.V132F	HSPB11_ENST00000371378.2_Intron|HSPB11_ENST00000489675.1_5'UTR	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	132					cell adhesion|response to stress			p.V132I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TCTGCAGAAACGCTATGCACA	0.343													3	135					1	1	1	0	A	54387365	C	A	54387365	3	1	71	1	0	0	0	0	1	0	0	0	7471	536	19	3	44	3	HSPB11	1	54387365	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	9926060	54387365	194863256	6	13515											
HFM1	164045	broad.mit.edu	37	chr1	91781517	91781517	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatttctgccgtcgtatcacTatatcttgtaatctttaaaa	11	18	4	8	2	4	0	1	0	3	0	5	0	4	0	1	0	1	2	1	0	7	9			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:91781517T>A	ENST00000370425.3	-	28	3093	c.2995A>T	c.(2995-2997)Agt>Tgt	p.S999C	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.S678C|HFM1_ENST00000294696.5_Missense_Mutation_p.S231C	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	999	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTCGTATCACTATATCTTGTA	0.299													10	48					0	0	0	0	A	91781517	T	A	91781517	3	1	71	1	0	0	0	0	1	0	0	0	7133	1522	53	5	1360	5	HFM1	1	91781517	Missense_Mutation	SNP	T	TCGA-CN-4738-01A-02D-1512-08	37394152	91781517	157469104	7	13516											
GLMN	11146	broad.mit.edu	37	chr1	92713516	92713516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctttaagaaattattctCaatatttccaagttctgtcc	11	17	5	8	0	2	1	1	0	2	1	5	1	4	1	2	1	0	2	2	1	6	7			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:92713516C>T	ENST00000370360.3	-	17	1585	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	GLMN_ENST00000534881.1_Missense_Mutation_p.E488K	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	502					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		AAATTATTCTCAATATTTCCA	0.299									Multiple Glomus Tumors (of the Skin), Familial				9	142					0	0	0	0	T	92713516	C	T	92713516	3	4	71	1	0	0	0	0	1	0	0	0	6499	835	29	2	292	2	GLMN	1	92713516	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	931999	92713516	156537105	8	13517											
LPPR4	9890	broad.mit.edu	37	chr1	99764696	99764696	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactgtgtgcaaaccaaactAtacctctctgaatgtatctt	12	13	6	10	0	2	1	0	1	2	0	3	2	2	1	2	0	4	2	2	0	6	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:99764696A>G	ENST00000370185.3	+	4	1141	c.644A>G	c.(643-645)tAt>tGt	p.Y215C	LPPR4_ENST00000457765.1_Missense_Mutation_p.Y215C|LPPR4_ENST00000370184.1_Missense_Mutation_p.Y57C	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		215							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AAACCAAACTATACCTCTCTG	0.393													8	94					0	0	0	0	G	99764696	A	G	99764696	3	3	71	1	0	0	0	0	1	0	0	0	8991	449	16	5	658	5	LPPR4	1	99764696	Missense_Mutation	SNP	A	TCGA-CN-4738-01A-02D-1512-08	7051180	99764696	149485925	9	13518											
TUFT1	7286	broad.mit.edu	37	chr1	151547445	151547445	+	Frame_Shift_Del	DEL	G	G	-																															ggtggccctagaggaacttcGgagcaacaatgctgactgcc																										TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:151547445delG	ENST00000368849.3	+	9	844	c.782delG	c.(781-783)cgfs	p.R261fs	TUFT1_ENST00000353024.3_Frame_Shift_Del_p.R202fs|TUFT1_ENST00000538902.1_Frame_Shift_Del_p.R280fs|TUFT1_ENST00000368848.2_Frame_Shift_Del_p.R236fs|TUFT1_ENST00000392712.3_Frame_Shift_Del_p.R206fs	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	261					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGAACTTCGGAGCAACAAT	0.547													2	4	---	---	---	---					-	151547445	G	-	151547445	7	5	71	1	0	1	0	1	0	0	0	0	16868	1116	39	0	816	0	TUFT1	1	151547445	Frame_Shift_Del	DEL	G	TCGA-CN-4738-01A-02D-1512-08	51782749	151547445	97703176	10	13519											
LINGO4	339398	broad.mit.edu	37	chr1	151774631	151774631	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgctccagggtgagggTgctcaacttggctagccctg	6	8	15	12	1	1	1	1	1	0	0	2	1	2	1	2	3	4	4	2	3	2	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:151774631T>A	ENST00000368820.3	-	2	1487	c.550A>T	c.(550-552)Acc>Tcc	p.T184S		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	184						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGTGAGGGTGCTCAACTTG	0.607													17	88					0	0	0	0	A	151774631	T	A	151774631	3	1	71	1	0	0	0	0	1	0	0	0	8872	1696	59	5	1235	5	LINGO4	1	151774631	Missense_Mutation	SNP	T	TCGA-CN-4738-01A-02D-1512-08	227186	151774631	97475990	11	13520											
FLG2	388698	broad.mit.edu	37	chr1	152326395	152326395	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtgtgtgaatgtgttcTgaatgtctgtgtgagacctt	6	17	13	5	0	2	3	0	3	2	1	2	4	2	3	1	0	0	2	1	0	2	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:152326395T>C	ENST00000388718.5	-	3	3939	c.3867A>G	c.(3865-3867)tcA>tcG	p.S1289S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1289	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGTGTTCTGAATGTCTGT	0.468													51	314					0	0	0	0	C	152326395	T	C	152326395	2	2	71	1	0	0	0	0	0	0	0	1	5968	1567	55	5		5	FLG2	1	152326395	Silent	SNP	T	TCGA-CN-4738-01A-02D-1512-08	551764	152326395	96924226	12	13521											
OR6K6	128371	broad.mit.edu	37	chr1	158725011	158725011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtactttttccactcacttGgtatcacagaaagctgtgtc	9	15	7	10	0	2	1	2	0	0	1	4	1	3	1	1	1	2	3	1	1	3	5			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:158725011G>A	ENST00000368144.2	+	1	502	c.406G>A	c.(406-408)Ggt>Agt	p.G136S		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCACTCACTTGGTATCACAGA	0.493													5	115					0	0	0	0	A	158725011	G	A	158725011	3	1	71	1	0	0	0	0	1	0	0	0	11275	1348	47	4	408	4	OR6K6	1	158725011	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	6398616	158725011	90525610	13	13522											
CACNA1S	779	broad.mit.edu	37	chr1	201044689	201044689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggtaggacggcccgcCgtaggccatgatcccattgt	7	7	14	13	3	0	1	0	1	0	0	1	2	1	2	5	4	0	2	5	4	2	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:201044689C>T	ENST00000362061.3	-	13	2108	c.1882G>A	c.(1882-1884)Ggc>Agc	p.G628S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G628S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	628				G -> R (in Ref. 2; AAB37235).|YG -> SS (in Ref. 1; AAA51902).	axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GACGGCCCGCCGTAGGCCATG	0.547													17	190					0	0	0	0	T	201044689	C	T	201044689	3	4	71	1	0	0	0	0	1	0	0	0	2572	652	23	1	3867	1	CACNA1S	1	201044689	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	42319678	201044689	48205932	14	13523											
GPATCH2	55105	broad.mit.edu	37	chr1	217793361	217793361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaggtggctgggtcattgtCcgtttgttagagatgtcctg	5	15	14	7	1	2	1	2	0	0	1	4	2	4	1	2	3	0	3	2	3	1	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:217793361C>T	ENST00000366935.3	-	2	647	c.537G>A	c.(535-537)cgG>cgA	p.R179R	GPATCH2_ENST00000366934.3_Silent_p.R179R	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	179						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GGGTCATTGTCCGTTTGTTAG	0.448													28	186					0	0	0	0	T	217793361	C	T	217793361	2	4	71	1	0	0	0	0	0	0	0	1	6640	842	30	2		2	GPATCH2	1	217793361	Silent	SNP	C	TCGA-CN-4738-01A-02D-1512-08	16748672	217793361	31457260	15	13524											
PSEN2	5664	broad.mit.edu	37	chr1	227069674	227069674	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcggacgtccctaatgtcGgctgagagccccacgccgcg	7	5	14	15	6	0	1	0	1	0	1	2	4	1	2	4	2	2	1	4	2	1	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:227069674G>A	ENST00000366782.1	+	4	665	c.165G>A	c.(163-165)tcG>tcA	p.S55S	PSEN2_ENST00000366783.3_Silent_p.S22S|PSEN2_ENST00000391872.2_Silent_p.S55S|PSEN2_ENST00000340188.4_Silent_p.S22S|PSEN2_ENST00000422240.2_Silent_p.S22S			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	22					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CCCTAATGTCGGCTGAGAGCC	0.627													13	73					0	0	0	0	A	227069674	G	A	227069674	2	1	71	1	0	0	0	0	0	0	0	1	12730	1103	39	1		1	PSEN2	1	227069674	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	9276313	227069674	22180947	16	13525											
ACTN2	88	broad.mit.edu	37	chr1	236902717	236902717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggattaccgccggaagcacaAgccacccaaggtgcaggaga	13	3	13	12	2	0	1	0	0	0	1	0	4	0	3	4	4	4	2	4	4	4	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:236902717A>G	ENST00000366578.4	+	10	1158	c.992A>G	c.(991-993)aAg>aGg	p.K331R	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.K331R	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	331					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGGAAGCACAAGCCACCCAAG	0.597													9	69					0	0	0	0	G	236902717	A	G	236902717	3	3	71	1	0	0	0	0	1	0	0	0	205	72	3	5	1030	5	ACTN2	1	236902717	Missense_Mutation	SNP	A	TCGA-CN-4738-01A-02D-1512-08	9833043	236902717	12347904	17	13526											
HNRNPU	3192	broad.mit.edu	37	chr1	245019776	245019776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctttcattttgaggaccGcatgttctggtaggtctttc	5	17	10	9	1	3	1	1	1	2	0	4	2	3	2	2	3	1	3	2	3	1	6			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:245019776G>A	ENST00000444376.2	-	10	2072	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V	HNRNPU_ENST00000283179.9_Missense_Mutation_p.A632V	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	632					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTGAGGACCGCATGTTCTGG	0.368													4	210					0	0	0	0	A	245019776	G	A	245019776	3	1	71	1	0	0	0	0	1	0	0	0	7323	1087	38	1	602	1	HNRNPU	1	245019776	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	8117059	245019776	4230845	18	13527											
CENPO	79172	broad.mit.edu	37	chr2	25038610	25038610	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactctgggaggaagtaccaGgcagaccggcttcaggtatc	10	8	13	10	1	2	1	1	0	1	1	3	3	2	3	2	5	2	4	2	5	4	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:25038610G>A	ENST00000380834.2	+	5	1004	c.579G>A	c.(577-579)caG>caA	p.Q193Q	CENPO_ENST00000260662.1_Silent_p.Q193Q|CENPO_ENST00000395845.2_3'UTR|CENPO_ENST00000473706.1_Silent_p.Q187Q			Q9BU64	CENPO_HUMAN	centromere protein O	193					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGAAGTACCAGGCAGACCGGC	0.468													25	121					0	0	0	0	A	25038610	G	A	25038610	2	1	71	1	0	0	0	0	0	0	0	1	3268	991	35	4		4	CENPO	2	25038610	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08		25038610	218160763	19	13528											
BIRC6	57448	broad.mit.edu	37	chr2	32730182	32730182	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctacatctttcttccaGaggaggcttggtgtgacctt	6	14	11	10	0	2	2	0	1	2	1	4	3	4	3	3	4	1	1	3	4	1	5			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:32730182G>T	ENST00000421745.2	+	50	9744	c.9610G>T	c.(9610-9612)Gag>Tag	p.E3204*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3204					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTTTCTTCCAGAGGAGGCTTG	0.502													3	28					0.00024832	0.000275348	1	0	T	32730182	G	T	32730182	4	4	71	1	0	0	0	0	0	1	0	0	1443	943	33	2	9808	2	BIRC6	2	32730182	Nonsense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	7691572	32730182	210469191	20	13529											
ALMS1	7840	broad.mit.edu	37	chr2	73676156	73676156	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatctacccgaagaggcTctgaaagtttcagctgtttc	10	11	9	11	1	3	2	1	1	2	1	4	3	3	2	2	1	3	4	2	1	3	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:73676156T>A	ENST00000264448.6	+	8	2610	c.2499T>A	c.(2497-2499)gcT>gcA	p.A833A	ALMS1_ENST00000409009.1_Silent_p.A791A|ALMS1_ENST00000377715.1_Silent_p.A833A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	833	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCGAAGAGGCTCTGAAAGTTT	0.517													19	93					0	0	0	0	A	73676156	T	A	73676156	2	1	71	1	0	0	0	0	0	0	0	1	535	1538	54	5		5	ALMS1	2	73676156	Silent	SNP	T	TCGA-CN-4738-01A-02D-1512-08	40945974	73676156	169523217	21	13530											
ELMOD3	84173	broad.mit.edu	37	chr2	85598671	85598671	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggaaaccactgggaggAcctgggctttcagggtaaga	11	8	14	8	0	2	1	2	0	0	1	2	4	2	4	2	5	1	2	2	5	2	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:85598671A>G	ENST00000315658.7	+	8	852	c.593A>G	c.(592-594)gAc>gGc	p.D198G	ELMOD3_ENST00000393852.4_Missense_Mutation_p.D198G|ELMOD3_ENST00000409344.3_Missense_Mutation_p.D198G|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409013.3_Missense_Mutation_p.D198G|ELMOD3_ENST00000428955.2_Missense_Mutation_p.D198G|ELMOD3_ENST00000409890.2_Missense_Mutation_p.D198G	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	198	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CACTGGGAGGACCTGGGCTTT	0.532													15	98					0	0	0	0	G	85598671	A	G	85598671	3	3	71	1	0	0	0	0	1	0	0	0	5108	275	10	5	619	5	ELMOD3	2	85598671	Missense_Mutation	SNP	A	TCGA-CN-4738-01A-02D-1512-08	11922515	85598671	157600702	22	13531											
ANAPC1	64682	broad.mit.edu	37	chr2	112638323	112638323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattagggtggtgcttgcagTggtctcgaccaaaaggaaca	11	9	13	8	1	1	0	0	0	1	0	2	2	1	1	1	4	3	2	1	4	4	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:112638323T>C	ENST00000341068.3	-	2	852	c.80A>G	c.(79-81)cAc>cGc	p.H27R	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	27					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTGCTTGCAGTGGTCTCGACC	0.468													9	57					0	0	0	0	C	112638323	T	C	112638323	3	2	71	1	0	0	0	0	1	0	0	0	598	1696	59	5	5942	5	ANAPC1	2	112638323	Missense_Mutation	SNP	T	TCGA-CN-4738-01A-02D-1512-08	27039652	112638323	130561050	23	13532											
PTPN4	5775	broad.mit.edu	37	chr2	120712819	120712819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccactagatagtgtgcatCaggatgaccattccctgcgg	9	9	10	13	1	1	2	1	1	0	1	2	3	2	3	4	2	2	1	4	2	2	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:120712819C>G	ENST00000263708.2	+	20	2671	c.1900C>G	c.(1900-1902)Cag>Gag	p.Q634E	PTPN4_ENST00000544261.1_Missense_Mutation_p.Q267E	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	634						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TAGTGTGCATCAGGATGACCA	0.398													12	94					0	0	0	0	G	120712819	C	G	120712819	3	3	71	1	0	0	0	0	1	0	0	0	12872	827	29	2	1974	2	PTPN4	2	120712819	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	8074496	120712819	122486554	24	13533											
POTEE	445582	broad.mit.edu	37	chr2	131976431	131976431	+	Frame_Shift_Del	DEL	C	C	-																															gctgcctggtggggtaaagtCcccagaaaggatctcatcgt																										TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:131976431delC	ENST00000356920.5	+	1	550	c.456delC	c.(454-456)gtfs	p.V152fs	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Frame_Shift_Del_p.V152fs	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	152							ATP binding										GGGGTAAAGTCCCCAGAAAGG	0.572													14	204	---	---	---	---					-	131976431	C	-	131976431	7	5	71	1	0	1	0	1	0	0	0	0	12336	842	30	0	458	0	POTEE	2	131976431	Frame_Shift_Del	DEL	C	TCGA-CN-4738-01A-02D-1512-08	11263612	131976431	111222942	25	13534											
LRP1B	53353	broad.mit.edu	37	chr2	141027890	141027890	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccatcacataactgacagcTagaggcaatctttccattag	13	10	7	11	0	2	2	1	1	1	1	3	2	3	2	2	1	2	2	2	1	4	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:141027890T>A	ENST00000389484.3	-	86	14139	c.13168A>T	c.(13168-13170)Agc>Tgc	p.S4390C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4390	EGF-like 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACTGACAGCTAGAGGCAATC	0.403										TSP Lung(27;0.18)			7	111					0	0	0	0	A	141027890	T	A	141027890	3	1	71	1	0	0	0	0	1	0	0	0	9019	1522	53	5	655	5	LRP1B	2	141027890	Missense_Mutation	SNP	T	TCGA-CN-4738-01A-02D-1512-08	9051459	141027890	102171483	26	13535											
GRB14	2888	broad.mit.edu	37	chr2	165349694	165349694	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaccgtcatcttctaccTgcaaaaagaaaagcaacaaa	17	9	4	11	1	4	1	2	0	2	1	4	1	4	1	2	0	4	2	2	0	7	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:165349694T>A	ENST00000263915.3	-	14	2015		c.e14-2		GRB14_ENST00000497306.1_Splice_Site|GRB14_ENST00000543549.1_Splice_Site	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14						blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ATCTTCTACCTGCAAAAAGAA	0.388													3	64					0	0	0	0	A	165349694	T	A	165349694	5	1	71	1	0	0	0	0	0	0	1	0	6807	1594	55	5	151	5	GRB14	2	165349694	Splice_Site	SNP	T	TCGA-CN-4738-01A-02D-1512-08	24321804	165349694	77849679	27	13536											
TTN	7273	broad.mit.edu	37	chr2	179596836	179596836	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtcactgccagcctcAttttgggcctcacacatata	9	11	8	13	0	3	0	3	0	0	0	3	0	3	0	3	2	2	0	3	2	2	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:179596836A>C	ENST00000589042.1	-	57	17084	c.16860T>G	c.(16858-16860)aaT>aaG	p.N5620K	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.N5303K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N4376K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5303	Ig-like 37.						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)			TGCCAGCCTCATTTTGGGCCT	0.468													19	225					0	0	0	0	C	179596836	A	C	179596836	3	2	71	1	0	0	0	0	1	0	0	0	16831	214	8	5	87893	5	TTN	2	179596836	Missense_Mutation	SNP	A	TCGA-CN-4738-01A-02D-1512-08	14247142	179596836	63602537	28	13537											
DNAH7	56171	broad.mit.edu	37	chr2	196825341	196825341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggcgcaaaccaggattaCagatcacttgaatgagagga	14	7	13	7	1	1	3	1	2	0	2	1	6	1	5	1	4	2	1	1	4	3	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:196825341C>T	ENST00000312428.6	-	18	2634	c.2534G>A	c.(2533-2535)tGt>tAt	p.C845Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	845	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCAGGATTACAGATCACTTG	0.443													21	172					0	0	0	0	T	196825341	C	T	196825341	3	4	71	1	0	0	0	0	1	0	0	0	4642	478	17	4	9732	4	DNAH7	2	196825341	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	17228505	196825341	46374032	29	13538											
PPIL3	53938	broad.mit.edu	37	chr2	201750420	201750420	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatgtaaataatagtacttaCctcacatgttttgggtgtcc	11	16	7	7	0	1	0	1	0	0	0	2	0	2	0	2	1	2	3	2	1	7	8			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:201750420C>T	ENST00000286175.8	-	3	462		c.e3+1		PPIL3_ENST00000409361.1_Splice_Site|PPIL3_ENST00000409449.1_Splice_Site|PPIL3_ENST00000392283.4_Splice_Site|PPIL3_ENST00000465823.1_Splice_Site	NM_032472.3	NP_115861.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3						protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(1)|lung(2)	3						ATAGTACTTACCTCACATGTT	0.318													4	100					0	0	0	0	T	201750420	C	T	201750420	5	4	71	1	0	0	0	0	0	0	1	0	12404	521	18	4	536	4	PPIL3	2	201750420	Splice_Site	SNP	C	TCGA-CN-4738-01A-02D-1512-08	4925079	201750420	41448953	30	13539											
PTPN23	25930	broad.mit.edu	37	chr3	47453167	47453167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctggtttctgaggctgaGatggagaaggtgagaagagg	11	9	18	3	0	1	5	0	3	1	4	1	8	1	5	0	5	1	3	0	5	2	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:47453167G>C	ENST00000265562.4	+	20	3956	c.3879G>C	c.(3877-3879)gaG>gaC	p.E1293D	PTPN23_ENST00000431726.1_Missense_Mutation_p.E1167D	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1293	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGAGGCTGAGATGGAGAAGG	0.587													7	50					0	0	0	0	C	47453167	G	C	47453167	3	2	71	1	0	0	0	0	1	0	0	0	12870	933	33	2	3957	2	PTPN23	3	47453167	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08		47453167	150569263	31	13540											
MST1	4485	broad.mit.edu	37	chr3	49724469	49724469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcggtctaccgcgccgcgGtattcctcgccattgcacca	5	9	11	16	6	1	0	0	0	1	0	3	0	2	0	5	2	3	2	5	2	2	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:49724469G>A	ENST00000545762.1	-	5	505	c.482C>T	c.(481-483)aCc>aTc	p.T161I	MST1_ENST00000383728.3_Silent_p.Y138Y|MST1_ENST00000449682.2_Silent_p.Y213Y|MST1_ENST00000494828.2_5'UTR			P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	0	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGCGCCGCGGTATTCCTCGC	0.657													7	100					0	0	0	0	A	49724469	G	A	49724469	3	1	71	1	0	0	0	0	1	0	0	0	9960	1256	44	4	1590	4	MST1	3	49724469	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	2271302	49724469	148297961	32	13541											
C3orf30	152405	broad.mit.edu	37	chr3	118866242	118866242	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggatagccaagtagacctCaattccaagccttcagttga	13	9	9	10	0	2	2	2	1	0	1	3	4	3	3	4	1	2	2	4	1	5	5			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:118866242C>T	ENST00000295622.1	+	1	1246	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	RP11-484M3.5_ENST00000490594.1_Silent_p.L7L	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	402										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAGTAGACCTCAATTCCAAGC	0.448													16	82					0	0	0	0	T	118866242	C	T	118866242	2	4	71	1	0	0	0	0	0	0	0	1	2240	813	29	2		2	C3orf30	3	118866242	Silent	SNP	C	TCGA-CN-4738-01A-02D-1512-08	69141773	118866242	79156188	33	13542											
SLITRK3	22865	broad.mit.edu	37	chr3	164906642	164906642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaaaaacagaaccagcagGctgagaattaacacagaaag	21	3	10	7	0	0	4	0	1	0	4	0	6	0	4	1	1	4	2	1	1	6	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:164906642G>T	ENST00000475390.1	-	2	2420	c.1977C>A	c.(1975-1977)agC>agA	p.S659R	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S659R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	659						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAACCAGCAGGCTGAGAATTA	0.532										HNSCC(40;0.11)			6	46					0.00198382	0.00214147	1	0	T	164906642	G	T	164906642	3	4	71	1	0	0	0	0	1	0	0	0	14832	1194	42	4	960	4	SLITRK3	3	164906642	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	46040400	164906642	33115788	34	13543											
MFSD7	84179	broad.mit.edu	37	chr4	680361	680361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaggatccagatggccGccacgccaaatggggtggat	10	6	14	11	2	0	1	0	0	0	1	2	3	2	3	5	5	0	0	5	5	1	0			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:680361G>A	ENST00000322224.4	-	2	567	c.254C>T	c.(253-255)gCg>gTg	p.A85V	MFSD7_ENST00000404286.2_Missense_Mutation_p.A85V|MFSD7_ENST00000503156.1_Missense_Mutation_p.A21V|MFSD7_ENST00000515118.1_Missense_Mutation_p.A85V|MFSD7_ENST00000347950.5_Missense_Mutation_p.A63V|MFSD7_ENST00000513740.1_5'UTR			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	85					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CCAGATGGCCGCCACGCCAAA	0.642													3	83					0	0	0	0	A	680361	G	A	680361	3	1	71	1	0	0	0	0	1	0	0	0	9606	1087	38	1	1461	1	MFSD7	4	680361	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08		680361	190473915	35	13544											
WDR19	57728	broad.mit.edu	37	chr4	39217727	39217727	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattataggagctaccaatCacagtttctgttgatgtgga	11	15	9	6	0	2	1	1	1	1	0	2	3	2	3	1	2	2	3	1	2	5	6			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:39217727C>G	ENST00000399820.3	+	12	1300	c.1146C>G	c.(1144-1146)atC>atG	p.I382M	WDR19_ENST00000506503.1_Missense_Mutation_p.I382M|WDR19_ENST00000288634.7_Missense_Mutation_p.I222M	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	382					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AGCTACCAATCACAGTTTCTG	0.323													2	11					0	0	0	0	G	39217727	C	G	39217727	3	3	71	1	0	0	0	0	1	0	0	0	17375	816	29	2	1192	2	WDR19	4	39217727	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	38537366	39217727	151936549	36	13545											
CENPE	1062	broad.mit.edu	37	chr4	104062022	104062022	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttggtctctctccagtttGagtgtctcctctactcttct	4	18	7	12	0	6	1	0	1	6	0	9	1	6	1	2	1	1	2	2	1	1	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:104062022G>C	ENST00000265148.3	-	36	5792	c.5703C>G	c.(5701-5703)ctC>ctG	p.L1901L	CENPE_ENST00000380026.3_Silent_p.L1876L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1901					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTCCAGTTTGAGTGTCTCCT	0.368													7	127					0	0	0	0	C	104062022	G	C	104062022	2	2	71	1	0	0	0	0	0	0	0	1	3259	1277	45	2		2	CENPE	4	104062022	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	64844295	104062022	87092254	37	13546											
ERCC8	1161	broad.mit.edu	37	chr5	60199489	60199489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaataccctgtagaatgtgaGaacaggatccagacttcaag	16	8	9	8	0	1	3	1	1	0	3	2	5	2	4	2	1	2	1	2	1	6	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr5:60199489G>A	ENST00000426742.2	-	7	796	c.362C>T	c.(361-363)tCt>tTt	p.S121F	ERCC8_ENST00000265038.5_Missense_Mutation_p.S179F|ERCC8_ENST00000543101.1_Missense_Mutation_p.S26F|ERCC8_ENST00000462279.1_5'UTR			Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 8	179					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TAGAATGTGAGAACAGGATCC	0.328													8	96					0	0	0	0	A	60199489	G	A	60199489	3	1	71	1	0	0	0	0	1	0	0	0	5257	942	33	2	682	2	ERCC8	5	60199489	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08		60199489	120715771	38	13547											
PCDHA2	56146	broad.mit.edu	37	chr5	140176991	140176991	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgttctttttaaaaaattCtatatgatttctactagtta	13	21	3	4	0	3	1	0	1	3	0	3	1	3	1	0	0	1	2	0	0	8	12			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr5:140176991C>G	ENST00000378132.1	+	1	2548	c.2442C>G	c.(2440-2442)ttC>ttG	p.F814L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031495.1	NP_113683.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAAAAATTCTATATGATTT	0.294													8	33					0	0	0	0	G	140176991	C	G	140176991	3	3	71	1	0	0	0	0	1	0	0	0	11595	912	32	2	2444	2	PCDHA2	5	140176991	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	79977502	140176991	40738269	39	13548											
GEMIN5	25929	broad.mit.edu	37	chr5	154278159	154278159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagtgatgccgcatccccCtttttggccaaaactttggc	8	12	8	13	1	0	1	0	1	0	0	1	1	1	1	4	2	2	1	4	2	3	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr5:154278159C>A	ENST00000285873.7	-	23	3261	c.3186G>T	c.(3184-3186)aaG>aaT	p.K1062N		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1062					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCGCATCCCCCTTTTTGGCCA	0.453													3	81					1	1	1	0	A	154278159	C	A	154278159	3	1	71	1	0	0	0	0	1	0	0	0	6382	680	24	4	1364	4	GEMIN5	5	154278159	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	14101168	154278159	26637101	40	13549											
GABRB2	2561	broad.mit.edu	37	chr5	160721372	160721372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaagtcccatcacagcctCagatgtggccatttcatttt	9	13	6	13	0	3	1	3	0	0	1	5	1	5	1	4	1	1	0	4	1	1	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr5:160721372C>G	ENST00000274547.2	-	11	1472	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	GABRB2_ENST00000353437.6_Missense_Mutation_p.E381Q|GABRB2_ENST00000520240.1_Missense_Mutation_p.E381Q|GABRB2_ENST00000393959.1_Missense_Mutation_p.E419Q|GABRB2_ENST00000517901.1_Missense_Mutation_p.E318Q|GABRB2_ENST00000517547.1_Missense_Mutation_p.E221Q	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	419					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATCACAGCCTCAGATGTGGCC	0.478													9	123					0	0	0	0	G	160721372	C	G	160721372	3	3	71	1	0	0	0	0	1	0	0	0	6215	835	29	2	287	2	GABRB2	5	160721372	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	6443213	160721372	20193888	41	13550											
SYNGAP1	8831	broad.mit.edu	37	chr6	33419553	33419553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggagaggcagcttccccCcttgggtccaacaaacccgc	9	5	11	16	1	0	1	0	0	0	1	2	2	2	1	5	3	3	3	5	3	2	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:33419553C>T	ENST00000418600.2	+	19	4003	c.3902C>T	c.(3901-3903)cCc>cTc	p.P1301L	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P1242L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1301					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CAGCTTCCCCCCTTGGGTCCA	0.652													4	24					0	0	0	0	T	33419553	C	T	33419553	3	4	71	1	0	0	0	0	1	0	0	0	15538	623	22	4	3976	4	SYNGAP1	6	33419553	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08		33419553	137695514	42	13551											
TRERF1	55809	broad.mit.edu	37	chr6	42235962	42235962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttgaggtggatcccactgGgggataggagggggcgatgg	7	8	21	5	1	0	1	0	1	0	0	1	5	1	4	1	8	0	1	1	8	1	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:42235962G>T	ENST00000541110.1	-	5	1935	c.1367C>A	c.(1366-1368)cCc>cAc	p.P456H	TRERF1_ENST00000354325.2_Missense_Mutation_p.P456H|TRERF1_ENST00000372917.4_Missense_Mutation_p.P456H|TRERF1_ENST00000372922.4_Missense_Mutation_p.P456H|TRERF1_ENST00000340840.2_Missense_Mutation_p.P456H			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	456	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GATCCCACTGGGGGATAGGAG	0.607													22	100					6.44725e-10	7.78446e-10	1	0	T	42235962	G	T	42235962	3	4	71	1	0	0	0	0	1	0	0	0	16570	1232	43	4	2291	4	TRERF1	6	42235962	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	8816409	42235962	128879105	43	13552											
EPHA7	2045	broad.mit.edu	37	chr6	93967234	93967234	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctattactatcatgacTggtttccctaaaattaaaaa	16	14	3	8	0	2	1	1	1	1	0	3	1	3	1	1	1	2	1	1	1	9	6			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:93967234T>A	ENST00000369303.4	-	12	2302	c.2118A>T	c.(2116-2118)ccA>ccT	p.P706P		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	706	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTATCATGACTGGTTTCCCTA	0.373													4	63					0	0	0	0	A	93967234	T	A	93967234	2	1	71	1	0	0	0	0	0	0	0	1	5210	1567	55	5		5	EPHA7	6	93967234	Silent	SNP	T	TCGA-CN-4738-01A-02D-1512-08	51731272	93967234	77147833	44	13553											
POU3F2	5454	broad.mit.edu	37	chr6	99283871	99283871	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctctggagagccatttcctCaaatgccccaagccctcggc	8	8	9	16	1	2	1	1	0	1	1	4	2	3	1	5	2	3	1	5	2	2	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:99283871C>G	ENST00000328345.5	+	1	1292	c.1122C>G	c.(1120-1122)ctC>ctG	p.L374L		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	374					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCCATTTCCTCAAATGCCCCA	0.587													7	106					0	0	0	0	G	99283871	C	G	99283871	2	3	71	1	0	0	0	0	0	0	0	1	12346	813	29	2		2	POU3F2	6	99283871	Silent	SNP	C	TCGA-CN-4738-01A-02D-1512-08	5316637	99283871	71831196	45	13554											
GRIK2	2898	broad.mit.edu	37	chr6	102074478	102074478	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggtgcagtttttcaagtgGaaaaccgtcacggttgtgta	9	13	12	7	2	2	0	2	0	0	0	2	1	2	1	1	3	2	4	1	3	4	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:102074478G>A	ENST00000369138.1	+	3	997	c.507G>A	c.(505-507)tgG>tgA	p.W169*	GRIK2_ENST00000358361.3_Nonsense_Mutation_p.W169*|GRIK2_ENST00000421544.1_Nonsense_Mutation_p.W169*|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.W120*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.W169*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.W169*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.W169*	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	169					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTTTCAAGTGGAAAACCGTCA	0.413													6	111					0	0	0	0	A	102074478	G	A	102074478	4	1	71	1	0	0	0	0	0	1	0	0	6824	1183	41	2	517	2	GRIK2	6	102074478	Nonsense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	2790607	102074478	69040589	46	13555											
CLVS2	134829	broad.mit.edu	37	chr6	123377032	123377032	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctgagtttggaggaatgCtgcctccttatgacatgggg	7	12	13	9	0	1	2	0	2	1	0	2	4	2	4	3	4	2	2	3	4	2	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:123377032C>T	ENST00000275162.4	+	5	2092	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	CLVS2_ENST00000368438.1_Silent_p.L107L	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	253	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TGGAGGAATGCTGCCTCCTTA	0.448													10	148					0	0	0	0	T	123377032	C	T	123377032	2	4	71	1	0	0	0	0	0	0	0	1	3602	796	28	4		4	CLVS2	6	123377032	Silent	SNP	C	TCGA-CN-4738-01A-02D-1512-08	21302554	123377032	47738035	47	13556											
SYNE1	23345	broad.mit.edu	37	chr6	152477074	152477074	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttccatggacatagcacaAatgtttctccaccgccggtc	9	11	7	14	2	1	0	0	0	1	0	4	1	2	1	4	2	1	2	4	2	2	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:152477074A>C	ENST00000367255.5	-	132	24550	c.23949T>G	c.(23947-23949)atT>atG	p.I7983M	SYNE1_ENST00000423061.1_Missense_Mutation_p.I7912M|SYNE1_ENST00000539504.1_Missense_Mutation_p.I138M|SYNE1_ENST00000354674.4_Missense_Mutation_p.I138M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7983M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.I7912M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I7595M|SYNE1_ENST00000356820.4_Missense_Mutation_p.I2507M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7983					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACATAGCACAAATGTTTCTCC	0.498										HNSCC(10;0.0054)			10	104					0	0	0	0	C	152477074	A	C	152477074	3	2	71	1	0	0	0	0	1	0	0	0	15536	10	1	5	2577	5	SYNE1	6	152477074	Missense_Mutation	SNP	A	TCGA-CN-4738-01A-02D-1512-08	29100042	152477074	18637993	48	13557											
ICA1	3382	broad.mit.edu	37	chr7	8258017	8258017	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccataatagtgctcctctaTattccgtcctgcactgttcc	7	15	5	14	1	1	0	0	0	1	0	6	0	6	0	5	0	2	3	5	0	4	6			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:8258017T>C	ENST00000402384.3	-	6	763	c.497A>G	c.(496-498)tAt>tGt	p.Y166C	ICA1_ENST00000407906.1_Missense_Mutation_p.Y166C|ICA1_ENST00000406470.2_Missense_Mutation_p.Y166C|ICA1_ENST00000422063.2_Missense_Mutation_p.Y166C|ICA1_ENST00000401396.1_Missense_Mutation_p.Y154C|ICA1_ENST00000396675.3_Missense_Mutation_p.Y166C|ICA1_ENST00000265577.7_Missense_Mutation_p.Y165C			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	166	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGCTCCTCTATATTCCGTCCT	0.488													39	195					0	0	0	0	C	8258017	T	C	8258017	3	2	71	1	0	0	0	0	1	0	0	0	7530	1406	49	5	990	5	ICA1	7	8258017	Missense_Mutation	SNP	T	TCGA-CN-4738-01A-02D-1512-08		8258017	150880646	49	13558											
THSD7A	221981	broad.mit.edu	37	chr7	11441597	11441597	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcaaataacagtcaccTgtaaaacacatatttgtaat	16	13	3	9	0	2	0	2	0	0	0	3	0	3	0	2	0	2	2	2	0	6	6			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:11441597T>A	ENST00000423059.3	-	23	4489		c.e23-2		AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AACAGTCACCTGTAAAACACA	0.443										HNSCC(18;0.044)			21	114					0	0	0	0	A	11441597	T	A	11441597	5	1	71	1	0	0	0	0	0	0	1	0	15973	1594	55	5	761	5	THSD7A	7	11441597	Splice_Site	SNP	T	TCGA-CN-4738-01A-02D-1512-08	3183580	11441597	147697066	50	13559											
TMEM196	256130	broad.mit.edu	37	chr7	19765251	19765251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagagagagtgcagcccccGatcccaatgcacgcgagaga	13	3	13	12	3	0	3	0	0	0	3	1	8	1	3	3	0	3	2	3	0	2	0			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:19765251G>A	ENST00000405844.1	-	3	1040	c.345C>T	c.(343-345)atC>atT	p.I115I	TMEM196_ENST00000493519.1_Silent_p.I47I|TMEM196_ENST00000433641.1_Silent_p.I47I|TMEM196_ENST00000422233.1_Silent_p.I47I|TMEM196_ENST00000405764.3_Silent_p.I115I			Q5HYL7	TM196_HUMAN	transmembrane protein 196	121						integral to membrane		p.I115I(1)|p.I47I(1)		breast(1)|large_intestine(1)|lung(4)	6						TGCAGCCCCCGATCCCAATGC	0.532													10	77					0	0	0	0	A	19765251	G	A	19765251	2	1	71	1	0	0	0	0	0	0	0	1	16212	1048	37	1		1	TMEM196	7	19765251	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	8323654	19765251	139373412	51	13560											
PHTF2	57157	broad.mit.edu	37	chr7	77531083	77531083	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttacttttttcagggtcTgcatttgcaaaggcaaagcc	10	15	8	8	0	2	0	1	0	1	0	2	0	2	0	1	2	4	3	1	2	3	6			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:77531083T>C	ENST00000416283.2	+	5	315	c.189T>C	c.(187-189)tcT>tcC	p.S63S	PHTF2_ENST00000307305.8_Silent_p.S59S|PHTF2_ENST00000248550.7_Silent_p.S97S|PHTF2_ENST00000424760.1_Silent_p.S59S|PHTF2_ENST00000415251.2_Silent_p.S59S|PHTF2_ENST00000450574.1_Silent_p.S63S|PHTF2_ENST00000422959.2_Silent_p.S63S|PHTF2_ENST00000275575.7_Silent_p.S59S	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTTCAGGGTCTGCATTTGCAA	0.338													2	7					0	0	0	0	C	77531083	T	C	77531083	2	2	71	1	0	0	0	0	0	0	0	1	11935	1567	55	5		5	PHTF2	7	77531083	Silent	SNP	T	TCGA-CN-4738-01A-02D-1512-08	57765832	77531083	81607580	52	13561											
CACNA2D1	781	broad.mit.edu	37	chr7	81746396	81746396	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtaggaatatggactgctgCgtgctgataagatatttgtc	11	13	12	5	1	0	2	0	1	0	1	1	4	0	4	0	2	3	3	0	2	5	5			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:81746396C>G	ENST00000356860.3	-	6	828	c.490G>C	c.(490-492)Gca>Cca	p.A164P	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A164P|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A164P	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	164						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGGACTGCTGCGTGCTGATAA	0.408													3	173					0	0	0	0	G	81746396	C	G	81746396	3	3	71	1	0	0	0	0	1	0	0	0	2573	768	27	3	2921	3	CACNA2D1	7	81746396	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	4215313	81746396	77392267	53	13562											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99129118	99129118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaaagctacaaccaacGcgtgcacctaactcagcatc	14	6	8	13	2	1	0	1	0	0	0	2	1	1	1	2	1	7	3	2	1	6	2	rs141273536		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:99129118G>A	ENST00000394170.2	+	7	2017	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.R589H|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.R589H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	589					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R589H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TACAACCAACGCGTGCACCTA	0.488													7	57					0	0	0	0	A	99129118	G	A	99129118	3	1	71	1	0	0	0	0	1	0	0	0	17785	1087	38	1	1788	1	ZKSCAN5	7	99129118	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	17382722	99129118	60009545	54	13563											
CNTNAP2	26047	broad.mit.edu	37	chr7	146471413	146471413	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccatgtggctttcagcAgctcctcctccatctctggt	4	13	7	17	0	2	0	1	0	1	0	7	0	6	0	5	2	2	3	5	2	0	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:146471413A>T	ENST00000361727.3	+	2	664	c.148A>T	c.(148-150)Agc>Tgc	p.S50C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	50	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCTTTCAGCAGCTCCTCCTC	0.428										HNSCC(39;0.1)			4	30					0	0	0	0	T	146471413	A	T	146471413	3	4	71	1	0	0	0	0	1	0	0	0	3677	188	7	5	154	5	CNTNAP2	7	146471413	Missense_Mutation	SNP	A	TCGA-CN-4738-01A-02D-1512-08	47342295	146471413	12667250	55	13564											
ANGPT2	285	broad.mit.edu	37	chr8	6378700	6378700	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgatatgtaaacttacaGtttgatgtggacatcatagt	13	14	9	5	0	1	2	1	2	0	0	1	3	1	3	0	1	2	3	0	1	5	5			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:6378700G>T	ENST00000325203.5	-	4	1272	c.799_splice	c.e4+1	p.N266_splice	ANGPT2_ENST00000338312.6_Splice_Site_p.N214_splice|ANGPT2_ENST00000523120.1_Splice_Site_p.N266_splice|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Splice_Site_p.N266_splice			O15123	ANGP2_HUMAN	angiopoietin 2	266					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TAAACTTACAGTTTGATGTGG	0.353													17	90					5.3912e-06	6.23238e-06	1	0	T	6378700	G	T	6378700	5	4	71	1	0	0	0	0	0	0	1	0	611	1043	36	4	716	4	ANGPT2	8	6378700	Splice_Site	SNP	G	TCGA-CN-4738-01A-02D-1512-08		6378700	139985322	56	13565											
HR	55806	broad.mit.edu	37	chr8	21986582	21986582	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcccatggtgcagtccAtctcgaggcgggctgccggg	5	6	17	13	4	1	0	0	0	1	0	3	1	2	0	3	5	3	2	3	5	0	0			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:21986582A>C	ENST00000381418.4	-	2	1582	c.102T>G	c.(100-102)gaT>gaG	p.D34E	HR_ENST00000312841.8_Missense_Mutation_p.D34E	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	34							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGTGCAGTCCATCTCGAGGCG	0.672													12	77					0	0	0	0	C	21986582	A	C	21986582	3	2	71	1	0	0	0	0	1	0	0	0	7397	214	8	5	3539	5	HR	8	21986582	Missense_Mutation	SNP	A	TCGA-CN-4738-01A-02D-1512-08	15607882	21986582	124377440	57	13566											
RIMS2	9699	broad.mit.edu	37	chr8	104898224	104898224	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttagatcctagctctgctgTaagaaaaacaaaacgggaaa	17	8	8	8	1	1	2	0	0	1	2	2	3	2	3	1	1	4	3	1	1	8	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:104898224T>C	ENST00000507740.1	+	2	1057	c.821T>C	c.(820-822)gTa>gCa	p.V274A	RIMS2_ENST00000406091.3_Missense_Mutation_p.V466A|RIMS2_ENST00000436393.2_Missense_Mutation_p.V244A|RIMS2_ENST00000262231.10_Missense_Mutation_p.V274A	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	497					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCTCTGCTGTAAGAAAAACA	0.473										HNSCC(12;0.0054)			16	71					0	0	0	0	C	104898224	T	C	104898224	3	2	71	1	0	0	0	0	1	0	0	0	13453	1638	57	5	1537	5	RIMS2	8	104898224	Missense_Mutation	SNP	T	TCGA-CN-4738-01A-02D-1512-08	82911642	104898224	41465798	58	13567											
C8orf76	84933	broad.mit.edu	37	chr8	124253497	124253497	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagagcttggcgcagtaGgacgcgggcggtcctgaccg	6	6	17	12	6	0	2	0	1	0	1	2	3	1	3	2	4	1	4	2	4	1	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:124253497G>C	ENST00000276704.4	-	1	141	c.90C>G	c.(88-90)tcC>tcG	p.S30S	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	30							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGGCGCAGTAGGACGCGGGCG	0.731													2	11					0	0	0	0	C	124253497	G	C	124253497	2	2	71	1	0	0	0	0	0	0	0	1	2462	987	35	4		4	C8orf76	8	124253497	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	19355273	124253497	22110525	59	13568											
CDKN2A	1029	broad.mit.edu	37	chr9	21971017	21971017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcctcagccaggtccacgGgcagacggccccaggcatcg	7	4	13	17	3	1	1	1	0	0	1	4	1	3	1	5	4	1	3	5	4	0	0	rs121913386		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr9:21971017G>A	ENST00000304494.5	-	2	611	c.341C>T	c.(340-342)cCc>cTc	p.P114L	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000530628.2_Silent_p.A128A|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000361570.3_Silent_p.A169A|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000579755.1_Silent_p.A128A|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	40					0	0	0	0	A	21971017	G	A	21971017	3	1	71	1	0	0	0	0	1	0	0	0	3190	1232	43	4	137	4	CDKN2A	9	21971017	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08		21971017	119242414	60	13569											
LINGO2	158038	broad.mit.edu	37	chr9	27950348	27950348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttttaggcggagggaacGcaggttaaagagattgttga	11	10	15	5	2	0	2	0	1	0	1	0	5	0	4	1	4	1	3	1	4	4	5			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr9:27950348G>A	ENST00000379992.2	-	6	771	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	LINGO2_ENST00000308675.3_Missense_Mutation_p.R108C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	108						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGAGGGAACGCAGGTTAAAG	0.438													28	163					0	0	0	0	A	27950348	G	A	27950348	3	1	71	1	0	0	0	0	1	0	0	0	8870	1087	38	1	1502	1	LINGO2	9	27950348	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	5979331	27950348	113263083	61	13570											
NCBP1	4686	broad.mit.edu	37	chr9	100412850	100412850	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagagaatcttcactgcatCattaagtcccactggaagga	14	9	9	9	0	3	1	2	0	1	1	4	5	4	3	1	2	1	1	1	2	4	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr9:100412850C>T	ENST00000375147.3	+	9	1219	c.963C>T	c.(961-963)atC>atT	p.I321I		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	321					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TTCACTGCATCATTAAGTCCC	0.403													22	137					0	0	0	0	T	100412850	C	T	100412850	2	4	71	1	0	0	0	0	0	0	0	1	10281	816	29	2		2	NCBP1	9	100412850	Silent	SNP	C	TCGA-CN-4738-01A-02D-1512-08	72462502	100412850	40800581	62	13571											
GPR158	57512	broad.mit.edu	37	chr10	25887454	25887454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcaaatcctgcggaggagCcaagaaagcctcagaaatct	15	6	9	11	1	3	2	2	0	1	2	4	4	4	4	3	2	3	0	3	2	4	0			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:25887454C>A	ENST00000376351.3	+	11	3258	c.2899C>A	c.(2899-2901)Cca>Aca	p.P967T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	967						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGCGGAGGAGCCAAGAAAGCC	0.458													7	152					8.12818e-05	9.20065e-05	1	0	A	25887454	C	A	25887454	3	1	71	1	0	0	0	0	1	0	0	0	6712	739	26	4	2941	4	GPR158	10	25887454	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08		25887454	109647293	63	13572											
HK1	3098	broad.mit.edu	37	chr10	71060577	71060577	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattaatgtgcaccactgtGgtggcgtggaaagatggcaa	12	9	13	7	1	0	1	0	0	0	1	0	2	0	2	1	4	1	2	1	4	3	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:71060577G>A	ENST00000360289.2	+	0	486				HK1_ENST00000404387.2_Intron|HK1_ENST00000448642.2_Intron	NM_033497.2|NM_033498.2|NM_033500.2	NP_277032.1|NP_277033.1|NP_277035.2	P19367	HXK1_HUMAN	hexokinase 1						glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GCACCACTGTGGTGGCGTGGA	0.428													3	36					0	0	0	0	A	71060577	G	A	71060577	1	1	71	1	0	0	0	0	0	0	0	0	7240	1363	47	4		4	HK1	10	71060577	Translation_Start_Site	SNP	G	TCGA-CN-4738-01A-02D-1512-08	45173123	71060577	64474170	64	13573											
POLL	27343	broad.mit.edu	37	chr10	103345697	103345697	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaagctcagccaggctgacTtcaccagctgagcacccggg	10	5	11	15	1	2	2	2	2	0	0	2	2	2	2	3	2	4	4	3	2	1	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:103345697T>C	ENST00000370162.3	-	3	826	c.332A>G	c.(331-333)aAg>aGg	p.K111R	POLL_ENST00000339310.3_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.K111R|POLL_ENST00000370172.1_Missense_Mutation_p.K23R|POLL_ENST00000299206.4_Missense_Mutation_p.K111R|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Missense_Mutation_p.K23R	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	111	BRCT.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCAGGCTGACTTCACCAGCTG	0.577								DNA polymerases (catalytic subunits)					12	45					0	0	0	0	C	103345697	T	C	103345697	3	2	71	1	0	0	0	0	1	0	0	0	12277	1609	56	5	1423	5	POLL	10	103345697	Missense_Mutation	SNP	T	TCGA-CN-4738-01A-02D-1512-08	32285120	103345697	32189050	65	13574											
PSD	5662	broad.mit.edu	37	chr10	104176509	104176509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatgaccacagagctctggGccccgggtgggggctgccca	7	5	16	13	1	1	3	0	1	1	2	1	3	1	3	4	4	2	2	4	4	0	0			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:104176509G>A	ENST00000020673.5	-	2	813	c.287C>T	c.(286-288)gCc>gTc	p.A96V	PSD_ENST00000406432.1_Missense_Mutation_p.A96V|PSD_ENST00000492902.2_5'UTR	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	96	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGAGCTCTGGGCCCCGGGTGG	0.657													6	85					0	0	0	0	A	104176509	G	A	104176509	3	1	71	1	0	0	0	0	1	0	0	0	12725	1203	42	4	2851	4	PSD	10	104176509	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	830812	104176509	31358238	66	13575											
CCDC147	159686	broad.mit.edu	37	chr10	106153149	106153149	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcaggtagatgagctgaaAgaagacatctctgccaaaga	16	7	10	8	0	2	6	1	2	1	4	3	6	2	6	1	1	2	2	1	1	4	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:106153149A>G	ENST00000369704.3	+	11	1724	c.1590A>G	c.(1588-1590)aaA>aaG	p.K530K		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	530										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATGAGCTGAAAGAAGACATCT	0.383													4	52					0	0	0	0	G	106153149	A	G	106153149	2	3	71	1	0	0	0	0	0	0	0	1	2806	69	3	5		5	CCDC147	10	106153149	Silent	SNP	A	TCGA-CN-4738-01A-02D-1512-08	1976640	106153149	29381598	67	13576											
OR52A5	390054	broad.mit.edu	37	chr11	5153039	5153039	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaggtaaagatttgacaaGaggatatgaatatatggtgg	17	10	12	2	0	0	4	0	2	0	2	0	5	0	5	0	4	1	1	0	4	8	5			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:5153039G>A	ENST00000307388.1	-	1	833	c.834C>T	c.(832-834)ctC>ctT	p.L278L		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GATTTGACAAGAGGATATGAA	0.398													20	97					0	0	0	0	A	5153039	G	A	5153039	2	1	71	1	0	0	0	0	0	0	0	1	11181	929	33	2		2	OR52A5	11	5153039	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08		5153039	129853477	68	13577											
OR2D2	120776	broad.mit.edu	37	chr11	6913385	6913385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgatcataggacatcactGcaagaagggcgcactgggta	13	6	13	9	2	2	1	2	0	0	1	2	3	2	2	0	3	2	3	0	3	4	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:6913385G>A	ENST00000299459.2	-	1	445	c.347C>T	c.(346-348)gCa>gTa	p.A116V		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGACATCACTGCAAGAAGGGC	0.488													14	89					0	0	0	0	A	6913385	G	A	6913385	3	1	71	1	0	0	0	0	1	0	0	0	11065	1319	46	4	582	4	OR2D2	11	6913385	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	1760346	6913385	128093131	69	13578											
ST5	6764	broad.mit.edu	37	chr11	8752204	8752204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagagctgcagggggaCggcaccacgctgggacagcc	8	6	15	12	2	1	1	1	0	0	1	1	3	1	3	2	4	3	4	2	4	0	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:8752204C>T	ENST00000534127.1	-	6	1018	c.633G>A	c.(631-633)ccG>ccA	p.P211P	ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Silent_p.P211P|ST5_ENST00000357665.1_Silent_p.P211P|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	211					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TGCAGGGGGACGGCACCACGC	0.642													3	25					0	0	0	0	T	8752204	C	T	8752204	2	4	71	1	0	0	0	0	0	0	0	1	15310	523	19	1		1	ST5	11	8752204	Silent	SNP	C	TCGA-CN-4738-01A-02D-1512-08	1838819	8752204	126254312	70	13579											
MICAL2	9645	broad.mit.edu	37	chr11	12229646	12229646	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccatgtgaatgtggagttCgtgaaggttctagagcctcc	9	12	12	8	1	1	3	0	2	1	1	4	4	3	4	3	2	1	2	3	2	3	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:12229646C>T	ENST00000256194.4	+	5	837	c.549C>T	c.(547-549)ttC>ttT	p.F183F	MICAL2_ENST00000342902.5_Silent_p.F183F|MICAL2_ENST00000527546.1_Silent_p.F183F|MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000379612.3_Silent_p.F183F|MICAL2_ENST00000537344.1_Silent_p.F183F	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	183						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATGTGGAGTTCGTGAAGGTTC	0.423													21	174					0	0	0	0	T	12229646	C	T	12229646	2	4	71	1	0	0	0	0	0	0	0	1	9639	883	31	1		1	MICAL2	11	12229646	Silent	SNP	C	TCGA-CN-4738-01A-02D-1512-08	3477442	12229646	122776870	71	13580											
DGKZ	8525	broad.mit.edu	37	chr11	46397933	46397933	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaactgtcccccaagtGgtgcttcctggacggtgagt	8	9	12	12	1	0	2	0	1	0	1	2	3	2	3	4	3	2	1	4	3	2	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:46397933G>A	ENST00000454345.1	+	24	2836	c.2711G>A	c.(2710-2712)tGg>tAg	p.W904*	DGKZ_ENST00000532868.2_Nonsense_Mutation_p.W720*|DGKZ_ENST00000528615.1_Nonsense_Mutation_p.W494*|DGKZ_ENST00000543978.1_Nonsense_Mutation_p.W68*|DGKZ_ENST00000527911.1_Nonsense_Mutation_p.W716*|DGKZ_ENST00000421244.2_Nonsense_Mutation_p.W716*|DGKZ_ENST00000318201.8_Nonsense_Mutation_p.W693*|DGKZ_ENST00000395574.3_Nonsense_Mutation_p.W682*|DGKZ_ENST00000343674.6_Nonsense_Mutation_p.W732*|DGKZ_ENST00000456247.2_Nonsense_Mutation_p.W715*	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	904					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCCCCCAAGTGGTGCTTCCTG	0.622													39	197					0	0	0	0	A	46397933	G	A	46397933	4	1	71	1	0	0	0	0	0	1	0	0	4511	1357	47	4	3248	4	DGKZ	11	46397933	Nonsense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	34168287	46397933	88608583	72	13581											
OR8J1	219477	broad.mit.edu	37	chr11	56128372	56128372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgattatagttctagtatCttatttcaatattgttttgt	9	23	5	4	0	3	1	1	1	2	0	3	1	3	1	0	0	0	3	0	0	7	12			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:56128372C>A	ENST00000303039.3	+	1	682	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GTTCTAGTATCTTATTTCAAT	0.328													15	118					4.7546e-09	5.65694e-09	1	0	A	56128372	C	A	56128372	3	1	71	1	0	0	0	0	1	0	0	0	11312	913	32	2	652	2	OR8J1	11	56128372	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	9730439	56128372	78878144	73	13582											
DDB1	1642	broad.mit.edu	37	chr11	61067685	61067685	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcttcataccgctgccatCgtcatactgcaatgagaaga	11	10	8	12	3	2	2	2	1	0	2	4	3	2	2	2	0	4	3	2	0	4	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:61067685C>A	ENST00000301764.7	-	27	3743	c.3346G>T	c.(3346-3348)Gat>Tat	p.D1116Y	DDB1_ENST00000451943.2_Missense_Mutation_p.D103Y|DDB1_ENST00000538470.1_Missense_Mutation_p.D163Y|DDB1_ENST00000450997.2_Missense_Mutation_p.D427Y	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1116	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCGCTGCCATCGTCATACTGC	0.592								Nucleotide excision repair (NER)					8	28					0.0381472	0.039859	1	0	A	61067685	C	A	61067685	3	1	71	1	0	0	0	0	1	0	0	0	4355	884	31	3	80	3	DDB1	11	61067685	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	4939313	61067685	73938831	74	13583											
RPS6KA4	8986	broad.mit.edu	37	chr11	64129153	64129153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcatcttgctcttcgagCtgctgacgggggcctcgccc	3	10	14	14	3	2	1	0	1	2	0	4	2	2	1	2	3	3	4	2	3	0	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:64129153C>A	ENST00000528057.1	+	7	779	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	RPS6KA4_ENST00000334205.4_Missense_Mutation_p.L231M|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.L231M	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	231	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GCTCTTCGAGCTGCTGACGGG	0.687													5	90					0.00116845	0.00126971	1	0	A	64129153	C	A	64129153	3	1	71	1	0	0	0	0	1	0	0	0	13738	796	28	4	717	4	RPS6KA4	11	64129153	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	3061468	64129153	70877363	75	13584											
SPTBN2	6712	broad.mit.edu	37	chr11	66473195	66473195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagggcagaggcgctgacGgcccgcaccctctcggcctg	5	4	15	17	5	1	2	0	1	1	1	2	2	1	2	3	4	0	4	3	4	0	0			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:66473195G>A	ENST00000533211.1	-	14	2098	c.1767C>T	c.(1765-1767)gcC>gcT	p.A589A	SPTBN2_ENST00000529997.1_Silent_p.A589A|SPTBN2_ENST00000309996.2_Silent_p.A589A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	589					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGGCGCTGACGGCCCGCACCC	0.662													5	31					0	0	0	0	A	66473195	G	A	66473195	2	1	71	1	0	0	0	0	0	0	0	1	15210	1103	39	1		1	SPTBN2	11	66473195	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	2344042	66473195	68533321	76	13585											
CLPB	81570	broad.mit.edu	37	chr11	72040797	72040797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatcacttccccttctcggGcataatccaagggtgtgtgt	7	13	9	12	1	3	0	2	0	1	0	6	0	5	0	3	2	0	1	3	2	2	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:72040797G>A	ENST00000294053.3	-	7	1090	c.917C>T	c.(916-918)gCc>gTc	p.A306V	CLPB_ENST00000538039.1_Missense_Mutation_p.A276V|CLPB_ENST00000340729.5_Missense_Mutation_p.A247V|CLPB_ENST00000437826.2_Missense_Mutation_p.A261V|CLPB_ENST00000543042.1_Missense_Mutation_p.A105V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	306					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CCCTTCTCGGGCATAATCCAA	0.512													3	87					0	0	0	0	A	72040797	G	A	72040797	3	1	71	1	0	0	0	0	1	0	0	0	3581	1203	42	4	1250	4	CLPB	11	72040797	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	5567602	72040797	62965719	77	13586											
POLD3	10714	broad.mit.edu	37	chr11	74329716	74329716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatgagctgaccaccaatgGtcatggcccacctgcatcca	11	7	8	15	0	1	2	1	2	0	0	2	2	2	2	5	2	2	2	5	2	2	0			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:74329716G>A	ENST00000263681.2	+	6	656	c.527G>A	c.(526-528)gGt>gAt	p.G176D	POLD3_ENST00000527458.1_Missense_Mutation_p.G137D|POLD3_ENST00000532497.1_Missense_Mutation_p.G70D	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	176					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					ACCACCAATGGTCATGGCCCA	0.483													19	136					0	0	0	0	A	74329716	G	A	74329716	3	1	71	1	0	0	0	0	1	0	0	0	12264	1261	44	4	549	4	POLD3	11	74329716	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	2288919	74329716	60676800	78	13587											
TMEM123	114908	broad.mit.edu	37	chr11	102272786	102272786	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagaagtcatatttgttgaGaccatccctggtgttgttgt	8	16	11	6	0	1	2	1	1	0	2	2	3	2	2	2	1	0	4	2	1	3	6	rs142725847	by1000genomes	TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:102272786G>C	ENST00000398136.2	-	3	729	c.309C>G	c.(307-309)gtC>gtG	p.V103V	TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000532161.1_Silent_p.V15V|TMEM123_ENST00000361236.3_Silent_p.V84V	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	103	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		TATTTGTTGAGACCATCCCTG	0.438													28	282					0	0	0	0	C	102272786	G	C	102272786	2	2	71	1	0	0	0	0	0	0	0	1	16130	929	33	2		2	TMEM123	11	102272786	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	27943070	102272786	32733730	79	13588											
FEZ1	9638	broad.mit.edu	37	chr11	125322271	125322271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttccactgagggaggagagGctttcttctcgtaaggaatg	9	11	13	8	1	2	2	0	1	2	1	4	5	3	4	1	4	0	2	1	4	2	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:125322271G>T	ENST00000278919.3	-	8	1289	c.1055C>A	c.(1054-1056)gCc>gAc	p.A352D	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	352					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GGGAGGAGAGGCTTTCTTCTC	0.493											OREG0021477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	50					1	1	1	0	T	125322271	G	T	125322271	3	4	71	1	0	0	0	0	1	0	0	0	5868	1203	42	4	135	4	FEZ1	11	125322271	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	23049485	125322271	9684245	80	13589											
OPCML	4978	broad.mit.edu	37	chr11	132290129	132290129	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctaagagggtccctgatagCcagagacaagccagtgctct	11	7	12	11	0	1	3	0	1	1	2	2	4	2	3	3	1	3	2	3	1	3	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:132290129C>G	ENST00000331898.7	-	7	1574	c.996G>C	c.(994-996)tgG>tgC	p.W332C	OPCML_ENST00000541867.1_Missense_Mutation_p.W341C|OPCML_ENST00000524381.1_Missense_Mutation_p.W325C|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.W291C	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	332					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCCCTGATAGCCAGAGACAAG	0.498													4	63					0	0	0	0	G	132290129	C	G	132290129	3	3	71	1	0	0	0	0	1	0	0	0	10945	740	26	4	45	4	OPCML	11	132290129	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	6967858	132290129	2716387	81	13590											
SCNN1A	6337	broad.mit.edu	37	chr12	6472662	6472662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctgggggttgttgtcccGcaagctggaggccacgctac	6	8	14	13	2	0	0	0	0	0	0	1	1	1	1	3	4	2	5	3	4	2	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:6472662G>A	ENST00000358945.3	-	2	1071	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	SCNN1A_ENST00000360168.3_Missense_Mutation_p.R270W|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000396966.2_Missense_Mutation_p.R211W|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R234W|SCNN1A_ENST00000228916.2_Missense_Mutation_p.R211W			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	211					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TTGTTGTCCCGCAAGCTGGAG	0.751													4	25					0	0	0	0	A	6472662	G	A	6472662	3	1	71	1	0	0	0	0	1	0	0	0	14014	1086	38	1	1422	1	SCNN1A	12	6472662	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08		6472662	127379233	82	13591											
CD163	9332	broad.mit.edu	37	chr12	7640635	7640635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatgcttcacttcaacaCgtccagaacagggaatgtcc	12	8	7	14	1	2	1	2	0	0	1	4	2	4	2	3	1	3	1	3	1	3	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:7640635C>A	ENST00000359156.4	-	7	1671	c.1469G>T	c.(1468-1470)cGt>cTt	p.R490L	CD163_ENST00000396620.3_Missense_Mutation_p.R490L|CD163_ENST00000432237.2_Missense_Mutation_p.R490L|CD163_ENST00000541972.1_Missense_Mutation_p.R478L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	490	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.R490H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CACTTCAACACGTCCAGAACA	0.478													4	33					0.00024832	0.000275348	1	0	A	7640635	C	A	7640635	3	1	71	1	0	0	0	0	1	0	0	0	2996	536	19	3	2041	3	CD163	12	7640635	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	1167973	7640635	126211260	83	13592											
CLEC4D	338339	broad.mit.edu	37	chr12	8671707	8671708	+	Frame_Shift_Ins	INS	-	-	TT																															gctgagagtgaaaggaactgINSttcagggatgggggcccatc																										TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:8671707_8671708insTT	ENST00000299665.2	+	4	528_529	c.335_336insTT	c.(334-336)ttcfs	p.F112fs		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	112	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GAAAGGAACTGTTCAGGGATGG	0.505													7	114	---	---	---	---					TT	8671708	-	TT	8671707	7	5	71	1	0	1	1	0	0	0	0	0	3544	1377	48	0	349	0	CLEC4D	12	8671707	Frame_Shift_Ins	INS	-	TCGA-CN-4738-01A-02D-1512-08	1031072	8671707	125180188	84	13593											
SLC2A13	114134	broad.mit.edu	37	chr12	40441956	40441956	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggtgactaatcggcctcTtaaattgggtggtgagacct	10	12	12	7	1	1	2	0	2	1	1	2	3	1	2	2	4	0	0	2	4	4	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:40441956T>C	ENST00000280871.4	-	2	663	c.613A>G	c.(613-615)Aga>Gga	p.R205G	SLC2A13_ENST00000380858.1_Missense_Mutation_p.R205G	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	205						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				AATCGGCCTCTTAAATTGGGT	0.423										HNSCC(50;0.14)			24	209					0	0	0	0	C	40441956	T	C	40441956	3	2	71	1	0	0	0	0	1	0	0	0	14630	1617	56	5	1369	5	SLC2A13	12	40441956	Missense_Mutation	SNP	T	TCGA-CN-4738-01A-02D-1512-08	31770249	40441956	93409939	85	13594											
LRRK2	120892	broad.mit.edu	37	chr12	40645303	40645303	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactaaataatctccttatgTaccaaaacagtttacatgag	16	12	4	9	0	1	1	0	1	1	0	2	1	1	1	2	0	3	2	2	0	8	6			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:40645303T>G	ENST00000298910.7	+	10	1196	c.1138T>G	c.(1138-1140)Tac>Gac	p.Y380D	LRRK2_ENST00000343742.2_Missense_Mutation_p.Y380D	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	380					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCTCCTTATGTACCAAAACAG	0.318											OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	27					0	0	0	0	G	40645303	T	G	40645303	3	3	71	1	0	0	0	0	1	0	0	0	9097	1638	57	5	1176	5	LRRK2	12	40645303	Missense_Mutation	SNP	T	TCGA-CN-4738-01A-02D-1512-08	203347	40645303	93206592	86	13595											
LRP1	4035	broad.mit.edu	37	chr12	57577638	57577638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagacgtggcgtgaagacGtggtgaccaatggcattggc	10	7	15	9	3	0	4	0	2	0	2	0	4	0	4	2	4	0	1	2	4	2	1	rs144804370		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:57577638G>T	ENST00000243077.3	+	36	6341	c.5875G>T	c.(5875-5877)Gtg>Ttg	p.V1959L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1959					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCGTGAAGACGTGGTGACCAA	0.612													20	90					1.33834e-09	1.60404e-09	1	0	T	57577638	G	T	57577638	3	4	71	1	0	0	0	0	1	0	0	0	9015	1145	40	3	6017	3	LRP1	12	57577638	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	16932335	57577638	76274257	87	13596											
CCDC63	160762	broad.mit.edu	37	chr12	111311766	111311766	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaacccgtttgaatctcGtatgtaaagtgttctctgca	10	14	9	8	2	2	1	0	1	2	0	4	2	2	2	1	1	2	5	1	1	5	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:111311766G>A	ENST00000308208.5	+	5	731		c.e5+1		CCDC63_ENST00000552694.1_Splice_Site|CCDC63_ENST00000550317.1_Splice_Site|CCDC63_ENST00000545036.1_Splice_Site	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63											NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TTTGAATCTCGTATGTAAAGT	0.443													31	145					0	0	0	0	A	111311766	G	A	111311766	5	1	71	1	0	0	0	0	0	0	1	0	2861	1159	40	1	504	1	CCDC63	12	111311766	Splice_Site	SNP	G	TCGA-CN-4738-01A-02D-1512-08	53734128	111311766	22540129	88	13597											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112318261	112318261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgacaggtactggaggCgcaaagaaggcatcagaagg	13	6	14	8	1	2	3	1	1	1	2	2	4	2	4	0	5	1	3	0	5	4	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:112318261C>T	ENST00000550735.2	+	8	1346	c.590C>T	c.(589-591)gCg>gTg	p.A197V	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.A197V	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	197	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						GTACTGGAGGCGCAAAGAAGG	0.463													5	78					0	0	0	0	T	112318261	C	T	112318261	3	4	71	1	0	0	0	0	1	0	0	0	9360	768	27	1	620	1	MAPKAPK5	12	112318261	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	1006495	112318261	21533634	89	13598											
TMEM132B	114795	broad.mit.edu	37	chr12	126128668	126128668	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgaatgggaaggaaatgaAgagcaaagtggacacgattg	16	7	15	3	1	0	3	0	2	0	1	0	7	0	6	0	3	1	1	0	3	5	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:126128668A>G	ENST00000299308.3	+	6	1477	c.1469A>G	c.(1468-1470)aAg>aGg	p.K490R	TMEM132B_ENST00000535886.1_Missense_Mutation_p.K2R	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	490						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGGAAATGAAGAGCAAAGTG	0.488													11	98					0	0	0	0	G	126128668	A	G	126128668	3	3	71	1	0	0	0	0	1	0	0	0	16140	72	3	5	1491	5	TMEM132B	12	126128668	Missense_Mutation	SNP	A	TCGA-CN-4738-01A-02D-1512-08	13810407	126128668	7723227	90	13599											
EFNB2	1948	broad.mit.edu	37	chr13	107147297	107147297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagcttctagttctggaCgtcttgttggatctttattc	6	18	8	9	1	4	0	0	0	4	0	5	2	4	2	1	2	2	3	1	2	3	9			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr13:107147297C>T	ENST00000245323.4	-	4	694	c.545G>A	c.(544-546)cGt>cAt	p.R182H		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	182					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TAGTTCTGGACGTCTTGTTGG	0.393													12	276					0	0	0	0	T	107147297	C	T	107147297	3	4	71	1	0	0	0	0	1	0	0	0	4992	536	19	1	464	1	EFNB2	13	107147297	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08		107147297	8022581	91	13600											
PROZ	8858	broad.mit.edu	37	chr13	113824825	113824825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatgttcactgttacacagGaatattactgtaaaaacatg	17	12	6	6	0	1	0	1	0	0	0	1	1	1	1	0	1	3	3	0	1	8	5	rs150819115		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr13:113824825G>T	ENST00000342783.4	+	8	745	c.738G>T	c.(736-738)agG>agT	p.R246S	PROZ_ENST00000375547.2_Missense_Mutation_p.R224S|PROZ_ENST00000493630.1_3'UTR	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	224	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TGTTACACAGGAATATTACTG	0.294													11	102					3.86212e-05	4.40228e-05	1	0	T	113824825	G	T	113824825	3	4	71	1	0	0	0	0	1	0	0	0	12642	1165	41	2	698	2	PROZ	13	113824825	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	6677528	113824825	1345053	92	13601											
SALL2	6297	broad.mit.edu	37	chr14	21992498	21992498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggccttctctggtggcacgGacataccataaggcaagcca	10	7	11	13	2	1	0	0	0	1	0	2	1	1	1	3	5	2	2	3	5	3	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:21992498G>T	ENST00000327430.3	-	2	1658	c.1364C>A	c.(1363-1365)tCc>tAc	p.S455Y	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.S318Y|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	455							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGGTGGCACGGACATACCATA	0.582													11	33					0.000673444	0.000736721	1	0	T	21992498	G	T	21992498	3	4	71	1	0	0	0	0	1	0	0	0	13896	1174	41	2	1663	2	SALL2	14	21992498	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08		21992498	85357042	93	13602											
ADCY4	196883	broad.mit.edu	37	chr14	24793592	24793592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatacgtgatggccagagctGggggcctgaagggagacaaa	12	6	16	7	1	0	4	0	2	0	2	0	5	0	4	2	4	2	1	2	4	4	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:24793592G>A	ENST00000310677.4	-	16	1942	c.1829C>T	c.(1828-1830)cCa>cTa	p.P610L	ADCY4_ENST00000554068.2_Missense_Mutation_p.P610L|ADCY4_ENST00000418030.2_Missense_Mutation_p.P610L|ADCY4_ENST00000396747.3_Missense_Mutation_p.P303L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	610					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGCCAGAGCTGGGGGCCTGAA	0.567													3	61					0	0	0	0	A	24793592	G	A	24793592	3	1	71	1	0	0	0	0	1	0	0	0	296	1348	47	4	1448	4	ADCY4	14	24793592	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	2801094	24793592	82555948	94	13603											
HECTD1	25831	broad.mit.edu	37	chr14	31642844	31642844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagctcctgtggtgctgcGacctggtttgcatgctgatg	4	13	15	9	1	0	1	0	1	0	0	1	3	1	2	2	3	5	5	2	3	0	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:31642844G>A	ENST00000399332.1	-	5	1260	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	HECTD1_ENST00000553700.1_Missense_Mutation_p.R258C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	258					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTGGTGCTGCGACCTGGTTTG	0.493													6	81					0	0	0	0	A	31642844	G	A	31642844	3	1	71	1	0	0	0	0	1	0	0	0	7089	1058	37	1	7216	1	HECTD1	14	31642844	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	6849252	31642844	75706696	95	13604											
SLC8A3	6547	broad.mit.edu	37	chr14	70527612	70527612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgaagaaattctcttgcCtttcgtattcctcctcatct	9	16	4	12	1	3	2	1	1	2	1	7	2	5	2	3	0	1	1	3	0	4	5			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:70527612C>T	ENST00000381269.2	-	3	2582	c.1829G>A	c.(1828-1830)aGg>aAg	p.R610K	SLC8A3_ENST00000534137.1_Missense_Mutation_p.R610K|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000533899.1_5'UTR|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R610K|SLC8A3_ENST00000216568.7_5'UTR	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	610	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATTCTCTTGCCTTTCGTATTC	0.398													27	98					0	0	0	0	T	70527612	C	T	70527612	3	4	71	1	0	0	0	0	1	0	0	0	14796	681	24	4	978	4	SLC8A3	14	70527612	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	38884768	70527612	36821928	96	13605											
NDNL2	56160	broad.mit.edu	37	chr15	29561302	29561302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtagacccctaagcgcCgcagaaagtcccaggcttca	10	6	12	13	2	1	2	1	0	0	2	2	2	2	2	4	3	1	3	4	3	3	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:29561302C>A	ENST00000332303.4	-	1	731	c.608G>T	c.(607-609)cGg>cTg	p.R203L	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	203	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCCTAAGCGCCGCAGAAAGTC	0.512													15	77					3.27435e-08	3.83971e-08	1	0	A	29561302	C	A	29561302	3	1	71	1	0	0	0	0	1	0	0	0	10318	652	23	3	310	3	NDNL2	15	29561302	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08		29561302	72970090	97	13606											
DMXL2	23312	broad.mit.edu	37	chr15	51757808	51757808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaaattcttgacattgtGaagtgctagtttaaccattg	14	14	8	5	0	1	3	0	2	1	1	1	3	1	3	1	0	2	2	1	0	5	7			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:51757808G>A	ENST00000251076.5	-	31	7845	c.7558C>T	c.(7558-7560)Cac>Tac	p.H2520Y	DMXL2_ENST00000449909.3_Missense_Mutation_p.H1884Y|DMXL2_ENST00000543779.2_Missense_Mutation_p.H2521Y|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2520						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTGACATTGTGAAGTGCTAGT	0.343													23	173					0	0	0	0	A	51757808	G	A	51757808	3	1	71	1	0	0	0	0	1	0	0	0	4632	1290	45	2	1604	2	DMXL2	15	51757808	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	22196506	51757808	50773584	98	13607											
NTRK3	4916	broad.mit.edu	37	chr15	88483890	88483890	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgtccttggtcgggctGaggttgtagcactcggccag	5	12	14	10	2	1	1	0	1	1	0	4	1	2	1	2	4	1	4	2	4	1	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:88483890G>T	ENST00000394480.1	-	15	2001	c.1680C>A	c.(1678-1680)ctC>ctA	p.L560L	NTRK3_ENST00000357724.2_Silent_p.L552L|NTRK3_ENST00000542733.2_Silent_p.L462L|NTRK3_ENST00000557856.1_Silent_p.L552L|NTRK3_ENST00000360948.2_Silent_p.L560L|NTRK3_ENST00000355254.2_Silent_p.L560L|NTRK3_ENST00000558676.1_Silent_p.L552L	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	560	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGTCGGGCTGAGGTTGTAGC	0.582			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			39	120					1.08169e-08	1.27765e-08	1	0	T	88483890	G	T	88483890	2	4	71	1	0	0	0	0	0	0	0	1	10779	1277	45	2		2	NTRK3	15	88483890	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	36726082	88483890	14047502	99	13608											
MYH11	4629	broad.mit.edu	37	chr16	15812199	15812199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggctttgcggacccggtcGctcatggcctccatgttgcc	3	11	13	14	3	1	0	1	0	0	0	3	1	2	1	4	4	2	3	4	4	0	2	rs139620532		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr16:15812199G>T	ENST00000338282.6	-	37	5374	c.5268C>A	c.(5266-5268)agC>agA	p.S1756R	MYH11_ENST00000396324.3_Missense_Mutation_p.S1763R|MYH11_ENST00000452625.2_Missense_Mutation_p.S1763R|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.1_Missense_Mutation_p.S1756R|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000300036.5_Missense_Mutation_p.S1756R	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1756					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGACCCGGTCGCTCATGGCCT	0.657			T	CBFB	AML								16	88					1.37285e-15	1.70821e-15	1	0	T	15812199	G	T	15812199	3	4	71	1	0	0	0	0	1	0	0	0	10101	1078	38	3	705	3	MYH11	16	15812199	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08		15812199	74542554	100	13609											
OTOA	146183	broad.mit.edu	37	chr16	21693074	21693074	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctcccacgtgtggacGgatgacctgtcccacagagt	9	8	12	12	2	0	3	0	2	0	1	2	5	2	5	3	2	1	1	3	2	1	0			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr16:21693074G>T	ENST00000388958.3	+	5	196	c.195G>T	c.(193-195)acG>acT	p.T65T	OTOA_ENST00000286149.4_Silent_p.T65T	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	65					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		ACGTGTGGACGGATGACCTGT	0.512													10	51					0.00829132	0.00889135	1	0	T	21693074	G	T	21693074	2	4	71	1	0	0	0	0	0	0	0	1	11373	1103	39	3		3	OTOA	16	21693074	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	5880875	21693074	68661679	101	13610											
TP53	7157	broad.mit.edu	37	chr17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcccaagacttagtacctGaagggtgaaatattctccat	12	11	9	9	0	1	3	0	2	1	1	3	3	2	3	3	2	1	1	3	2	6	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTAGTACCTGAAGGGTGAAA	0.448		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	108					0	0	0	0	A	7576855	G	A	7576855	4	1	71	1	0	0	0	0	0	1	0	0	16476	1299	45	2	291	2	TP53	17	7576855	Nonsense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08		7576855	73618355	102	13611											
TP53	7157	broad.mit.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	8	7	14	12	2	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	2	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:7578395G>A	ENST00000420246.2	-	5	667	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCTCATGGTGGGGGCAG	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	73					0	0	0	0	A	7578395	G	A	7578395	3	1	71	1	0	0	0	0	1	0	0	0	16476	1348	47	4	763	4	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	1540	7578395	73616815	103	13612											
FLOT2	2319	broad.mit.edu	37	chr17	27209178	27209178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggctgacttttgcagctcGaaggctcgcttagagtcagc	9	10	12	10	2	1	2	1	1	0	1	3	3	1	2	0	2	3	5	0	2	3	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:27209178G>A	ENST00000394906.2	-	9	899	c.822C>T	c.(820-822)ttC>ttT	p.F274F	FLOT2_ENST00000394908.4_Silent_p.F219F|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Silent_p.F219F			Q14254	FLOT2_HUMAN	flotillin 2	219					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TTTGCAGCTCGAAGGCTCGCT	0.542													15	109					0	0	0	0	A	27209178	G	A	27209178	2	1	71	1	0	0	0	0	0	0	0	1	5982	1049	37	1		1	FLOT2	17	27209178	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	19630783	27209178	53986032	104	13613											
IKZF3	22806	broad.mit.edu	37	chr17	37933964	37933964	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgcttgctaatctgtccaGtacgagagctctttcacttc	8	15	7	11	1	3	1	1	0	2	1	5	2	4	1	1	0	4	4	1	0	2	6			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:37933964G>A	ENST00000346872.3	-	7	827	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000467757.1_Silent_p.L200L|IKZF3_ENST00000439167.2_Silent_p.L183L|IKZF3_ENST00000583368.1_Silent_p.L9L|IKZF3_ENST00000351680.3_Silent_p.L217L|IKZF3_ENST00000535189.1_Silent_p.L222L|IKZF3_ENST00000377958.2_Silent_p.L169L|IKZF3_ENST00000377944.3_Silent_p.L113L|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000350532.3_Intron|IKZF3_ENST00000439016.2_Silent_p.L161L|IKZF3_ENST00000346243.3_Intron|IKZF3_ENST00000394189.2_Silent_p.L74L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	256					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AATCTGTCCAGTACGAGAGCT	0.398													17	108					0	0	0	0	A	37933964	G	A	37933964	2	1	71	1	0	0	0	0	0	0	0	1	7669	1020	36	4		4	IKZF3	17	37933964	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	10724786	37933964	43261246	105	13614											
PRCD	768206	broad.mit.edu	37	chr17	74538650	74538650	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttagggagaaagaacctctGaagtaagccctcacctctgc	12	9	9	11	0	3	3	1	1	2	2	3	4	3	3	3	1	3	1	3	1	5	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:74538650G>A	ENST00000586148.1	+	3	211	c.159G>A	c.(157-159)ctG>ctA	p.L53L	PRCD_ENST00000592432.1_3'UTR|PRCD_ENST00000592014.1_Silent_p.L53L|CYGB_ENST00000589145.1_Intron			Q00LT1	PRCD_HUMAN	progressive rod-cone degeneration	53					response to stimulus|visual perception	cytoplasm|integral to membrane											AAGAACCTCTGAAGTAAGCCC	0.607													7	64					0	0	0	0	A	74538650	G	A	74538650	2	1	71	1	0	0	0	0	0	0	0	1	12528	1277	45	2		2	PRCD	17	74538650	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	36604686	74538650	6656560	106	13615											
MYOM1	8736	broad.mit.edu	37	chr18	3135616	3135616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgcagaattagaacagCggacacggaaacagtaggat	15	6	11	9	2	0	2	0	0	0	2	1	5	1	5	1	3	4	2	1	3	5	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr18:3135616C>A	ENST00000400569.3	-	15	2471	c.2138G>T	c.(2137-2139)cGc>cTc	p.R713L	MYOM1_ENST00000261606.7_Missense_Mutation_p.R713L|MYOM1_ENST00000356443.4_Missense_Mutation_p.R713L			P52179	MYOM1_HUMAN	myomesin 1	713	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTAGAACAGCGGACACGGAA	0.512													8	46					1.06961e-07	1.24534e-07	1	0	A	3135616	C	A	3135616	3	1	71	1	0	0	0	0	1	0	0	0	10161	768	27	3	3015	3	MYOM1	18	3135616	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08		3135616	74941632	107	13616											
RBBP8	5932	broad.mit.edu	37	chr18	20555121	20555121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacattgtttttaagtgaatGaaaggaatactctacaggaa	16	12	8	5	0	1	2	0	2	1	0	1	4	1	4	0	2	2	1	0	2	7	6			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr18:20555121G>C	ENST00000399722.2	+	6	718	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q	RBBP8_ENST00000360790.5_Missense_Mutation_p.E123Q|RBBP8_ENST00000399725.2_Missense_Mutation_p.E123Q|RBBP8_ENST00000327155.5_Missense_Mutation_p.E123Q	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	123					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTAAGTGAATGAAAGGAATAC	0.264								Homologous recombination					5	83					0	0	0	0	C	20555121	G	C	20555121	3	2	71	1	0	0	0	0	1	0	0	0	13187	1291	45	2	385	2	RBBP8	18	20555121	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	17419505	20555121	57522127	108	13617											
CHAF1A	10036	broad.mit.edu	37	chr19	4428796	4428796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctccagcagcagagcggcGagttctccttcttgaaagac	9	9	10	13	2	2	3	0	1	2	2	5	4	4	3	3	1	3	3	3	1	1	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:4428796G>A	ENST00000301280.5	+	8	1614	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	505					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAGCGGCGAGTTCTCCTT	0.582								Chromatin Structure					10	68					0	0	0	0	A	4428796	G	A	4428796	3	1	71	1	0	0	0	0	1	0	0	0	3340	1059	37	1	1543	1	CHAF1A	19	4428796	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08		4428796	54700187	109	13618											
PLIN4	729359	broad.mit.edu	37	chr19	4511556	4511556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccttggccacattcgcagCaccggtcaccccactgcaca	8	6	7	20	2	1	0	1	0	0	0	2	0	1	0	6	2	2	3	6	2	0	2	rs71263980		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:4511556C>A	ENST00000301286.3	-	3	2373	c.2374G>T	c.(2374-2376)Gct>Tct	p.A792S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	792	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACATTCGCAGCACCGGTCACC	0.607													5	241					1	1	1	0	A	4511556	C	A	4511556	3	1	71	1	0	0	0	0	1	0	0	0	12164	710	25	4	1715	4	PLIN4	19	4511556	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	82760	4511556	54617427	110	13619											
ZNF99	7652	broad.mit.edu	37	chr19	22940600	22940600	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacattcttcacatttgtagGgtttctttccagtatgaatt	9	18	6	8	0	3	1	1	1	2	0	4	1	4	1	1	1	0	3	1	1	3	8			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:22940600G>C	ENST00000397104.3	-	5	1837	c.1838C>G	c.(1837-1839)cCc>cGc	p.P613R	ZNF99_ENST00000596209.1_Missense_Mutation_p.P704R					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTTGTAGGGTTTCTTTCC	0.373													8	71					0	0	0	0	C	22940600	G	C	22940600	3	2	71	1	0	0	0	0	1	0	0	0	18297	1232	43	4	1286	4	ZNF99	19	22940600	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	18429044	22940600	36188383	111	13620											
ZNF540	163255	broad.mit.edu	37	chr19	38103919	38103919	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacgggtgtaaaaccatacAaatgtaaagaatgtgggaag	18	8	11	4	1	0	1	0	0	0	1	0	2	0	2	1	2	3	2	1	2	9	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:38103919A>G	ENST00000592533.1	+	5	2070	c.1738A>G	c.(1738-1740)Aaa>Gaa	p.K580E	ZNF540_ENST00000589117.1_Missense_Mutation_p.K548E|ZNF540_ENST00000343599.5_Missense_Mutation_p.K580E|ZNF540_ENST00000316433.4_Missense_Mutation_p.K580E	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAACCATACAAATGTAAAGA	0.398													9	127					0	0	0	0	G	38103919	A	G	38103919	3	3	71	1	0	0	0	0	1	0	0	0	18070	131	5	5	1752	5	ZNF540	19	38103919	Missense_Mutation	SNP	A	TCGA-CN-4738-01A-02D-1512-08	15163319	38103919	21025064	112	13621											
VN1R2	317701	broad.mit.edu	37	chr19	53762257	53762257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaagccccgacatacattgGtctctccaatatcctgtgct	11	11	6	13	1	1	0	0	0	1	0	4	1	3	0	4	1	3	1	4	1	5	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:53762257G>A	ENST00000341702.3	+	1	713	c.629G>A	c.(628-630)gGt>gAt	p.G210D		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	210					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ACATACATTGGTCTCTCCAAT	0.458													6	57					0	0	0	0	A	53762257	G	A	53762257	3	1	71	1	0	0	0	0	1	0	0	0	17275	1261	44	4	631	4	VN1R2	19	53762257	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	15658338	53762257	5366726	113	13622											
NLRP5	126206	broad.mit.edu	37	chr19	56515382	56515382	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtattatggagcatcgctGgcctgggctacgtccattag	8	11	13	9	2	0	0	0	0	0	0	2	2	1	1	2	3	2	4	2	3	4	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:56515382G>T	ENST00000390649.3	+	2	363	c.363G>T	c.(361-363)ctG>ctT	p.L121L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	121	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGCATCGCTGGCCTGGGCTA	0.488													3	61					1	1	1	0	T	56515382	G	T	56515382	2	4	71	1	0	0	0	0	0	0	0	1	10550	1335	47	4		4	NLRP5	19	56515382	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	2753125	56515382	2613601	114	13623											
ZNF582	147948	broad.mit.edu	37	chr19	56895798	56895798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgccagtatgaacagtctGatgttgaatcaactgagaac	13	10	9	9	0	2	4	1	4	1	1	2	5	2	4	2	0	4	2	2	0	5	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:56895798G>C	ENST00000301310.4	-	5	1146	c.988C>G	c.(988-990)Cag>Gag	p.Q330E	ZNF582_ENST00000586929.1_Missense_Mutation_p.Q330E	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGAACAGTCTGATGTTGAATC	0.383													3	160					0	0	0	0	C	56895798	G	C	56895798	3	2	71	1	0	0	0	0	1	0	0	0	18109	1299	45	2	569	2	ZNF582	19	56895798	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	380416	56895798	2233185	115	13624											
NRSN2	80023	broad.mit.edu	37	chr20	333907	333907	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgtggcggctctgacCactggctatgcagtgccccc	4	9	14	14	1	1	1	0	1	1	0	1	1	1	1	3	4	2	3	3	4	1	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:333907C>T	ENST00000382291.3	+	4	483	c.243C>T	c.(241-243)acC>acT	p.T81T	NRSN2_ENST00000382285.2_Silent_p.T81T|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	81						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CGGCTCTGACCACTGGCTATG	0.642													20	125					0	0	0	0	T	333907	C	T	333907	2	4	71	1	0	0	0	0	0	0	0	1	10734	581	21	4		4	NRSN2	20	333907	Silent	SNP	C	TCGA-CN-4738-01A-02D-1512-08		333907	62691613	116	13625											
CST1	1469	broad.mit.edu	37	chr20	23731351	23731351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttgttatactcgctgatGgcgaagtgaagggcacgctg	8	10	14	9	3	0	2	0	2	0	0	1	3	0	2	1	2	1	4	1	2	4	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:23731351G>A	ENST00000304749.2	-	1	223	c.153C>T	c.(151-153)gcC>gcT	p.A51A	CST1_ENST00000398402.1_Silent_p.A51A	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	51						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					ACTCGCTGATGGCGAAGTGAA	0.577													22	95					0	0	0	0	A	23731351	G	A	23731351	2	1	71	1	0	0	0	0	0	0	0	1	4002	1335	47	4		4	CST1	20	23731351	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	23397444	23731351	39294169	117	13626											
NPEPL1	79716	broad.mit.edu	37	chr20	57268962	57268962	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctgcctgccgcccggagCgcatcgctgcattgtggtga	5	8	14	14	4	0	1	0	1	0	0	1	3	0	2	4	2	4	3	4	2	0	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:57268962C>A	ENST00000356091.6	+	2	608	c.320C>A	c.(319-321)gCg>gAg	p.A107E	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.A79E|NPEPL1_ENST00000525817.1_Missense_Mutation_p.A59E	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	107					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CCGCCCGGAGCGCATCGCTGC	0.706													4	12					0.00909568	0.00969017	1	0	A	57268962	C	A	57268962	3	1	71	1	0	0	0	0	1	0	0	0	10644	768	27	3	172	3	NPEPL1	20	57268962	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	33537611	57268962	5756558	118	13627											
LAMA5	3911	broad.mit.edu	37	chr20	60906173	60906173	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactcctcaatgggcaccaGagtgaccccgtgctgcaggc	9	6	12	14	1	1	2	1	1	0	1	2	3	2	2	4	2	3	3	4	2	2	0			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:60906173G>A	ENST00000252999.3	-	29	3631	c.3565C>T	c.(3565-3567)Ctg>Ttg	p.L1189L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1189	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGGGCACCAGAGTGACCCCG	0.657													3	16					0	0	0	0	A	60906173	G	A	60906173	2	1	71	1	0	0	0	0	0	0	0	1	8662	933	33	2		2	LAMA5	20	60906173	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	3637211	60906173	2119347	119	13628											
SLC5A3	6526	broad.mit.edu	37	chr21	35468451	35468451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatagttgtcccaggaatGatttccaggatactgtttac	11	14	8	8	0	1	1	1	1	0	0	3	3	3	3	2	2	2	2	2	2	4	6			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr21:35468451G>A	ENST00000381151.3	+	2	1466	c.954G>A	c.(952-954)atG>atA	p.M318I	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	318						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TCCCAGGAATGATTTCCAGGA	0.463													14	192					0	0	0	0	A	35468451	G	A	35468451	3	1	71	1	0	0	0	0	1	0	0	0	14754	1290	45	2	956	2	SLC5A3	21	35468451	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08		35468451	12661444	120	13629											
HIRA	7290	broad.mit.edu	37	chr22	19340889	19340889	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagcctcaccttcgtttacGaggtaccgtgcgtagacgag	8	9	13	11	5	1	1	1	0	0	1	2	4	1	2	3	2	4	3	3	2	3	5			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr22:19340889G>A	ENST00000263208.5	-	23	3094	c.2838C>T	c.(2836-2838)ctC>ctT	p.L946L	HIRA_ENST00000340170.4_Silent_p.L739L|HIRA_ENST00000541063.1_Silent_p.L902L|HIRA_ENST00000546308.1_3'UTR	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	946	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTTCGTTTACGAGGTACCGTG	0.597													6	21					0	0	0	0	A	19340889	G	A	19340889	2	1	71	1	0	0	0	0	0	0	0	1	7170	1045	37	1		1	HIRA	22	19340889	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08		19340889	31963677	121	13630											
MCM5	4174	broad.mit.edu	37	chr22	35812693	35812693	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctgctgccaactcagtgttCggccgctgggatgagacgaa	8	8	14	11	3	1	1	1	1	0	1	2	4	1	2	2	2	3	4	2	2	2	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr22:35812693C>G	ENST00000216122.4	+	12	1630	c.1476C>G	c.(1474-1476)ttC>ttG	p.F492L	MCM5_ENST00000382011.5_Missense_Mutation_p.F449L	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	492	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.F492F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ACTCAGTGTTCGGCCGCTGGG	0.577													3	96					0	0	0	0	G	35812693	C	G	35812693	3	3	71	1	0	0	0	0	1	0	0	0	9459	883	31	3	1518	3	MCM5	22	35812693	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	16471804	35812693	15491873	122	13631											
APOL6	80830	broad.mit.edu	37	chr22	36054943	36054943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaagcctgctgctctccaCcgctggtcaaggtttggcaa	8	9	12	12	1	2	0	1	0	1	0	3	1	2	1	3	4	3	5	3	4	3	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr22:36054943C>T	ENST00000409652.3	+	3	608	c.332C>T	c.(331-333)aCc>aTc	p.T111I		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	111					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CTGCTCTCCACCGCTGGTCAA	0.572													6	69					0	0	0	0	T	36054943	C	T	36054943	3	4	71	1	0	0	0	0	1	0	0	0	812	507	18	4	338	4	APOL6	22	36054943	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	242250	36054943	15249623	123	13632											
TLR7	51284	broad.mit.edu	37	chrX	12905767	12905767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacaaccaactgaccactGtccctgagagattatccaac	13	7	6	15	0	0	3	0	2	0	1	2	4	2	3	5	0	3	0	5	0	4	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:12905767G>A	ENST00000380659.3	+	3	2279	c.2140G>A	c.(2140-2142)Gtc>Atc	p.V714I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	714					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ACTGACCACTGTCCCTGAGAG	0.418													15	76					0	0	0	0	A	12905767	G	A	12905767	3	1	71	1	0	0	0	0	1	0	0	0	16050	1377	48	4	2146	4	TLR7	23	12905767	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08		12905767	142364793	124	13633											
CA5B	11238	broad.mit.edu	37	chrX	15792452	15792452	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgcattggaacgcagtcAgatttgaaaactttgaggat	13	12	11	5	1	1	3	1	2	0	1	1	5	1	5	0	2	3	2	0	2	4	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:15792452A>T	ENST00000318636.3	+	5	623	c.487A>T	c.(487-489)Aga>Tga	p.R163*	CA5B_ENST00000454127.2_Nonsense_Mutation_p.R163*	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	163					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					GAACGCAGTCAGATTTGAAAA	0.403													6	45					0	0	0	0	T	15792452	A	T	15792452	4	4	71	1	0	0	0	0	0	1	0	0	2545	180	7	5	501	5	CA5B	23	15792452	Nonsense_Mutation	SNP	A	TCGA-CN-4738-01A-02D-1512-08	2886685	15792452	139478108	125	13634											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29972705	29972705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagtggaatcaagagaCtggggaagaagaacgttttg	14	8	14	5	1	1	4	1	1	0	3	1	7	1	6	1	3	1	1	1	3	5	2			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:29972705C>G	ENST00000378993.1	+	10	1941	c.1268C>G	c.(1267-1269)aCt>aGt	p.T423S	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.T423S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	423	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AATCAAGAGACTGGGGAAGAA	0.363													9	45					0	0	0	0	G	29972705	C	G	29972705	3	3	71	1	0	0	0	0	1	0	0	0	7714	565	20	4	1302	4	IL1RAPL1	23	29972705	Missense_Mutation	SNP	C	TCGA-CN-4738-01A-02D-1512-08	14180253	29972705	125297855	126	13635											
TRO	7216	broad.mit.edu	37	chrX	54951479	54951479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcccagaaatcattgaacGagcaagctacactctggaga	14	9	8	10	1	2	3	1	1	1	2	3	5	3	3	1	1	4	2	1	1	4	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:54951479G>A	ENST00000173898.7	+	6	1575	c.1463G>A	c.(1462-1464)cGa>cAa	p.R488Q	TRO_ENST00000375041.2_Missense_Mutation_p.R91Q|TRO_ENST00000420798.2_Missense_Mutation_p.R19Q|TRO_ENST00000319167.8_Missense_Mutation_p.R488Q|TRO_ENST00000375022.4_Missense_Mutation_p.R488Q|TRO_ENST00000484031.1_3'UTR|TRO_ENST00000399736.1_Missense_Mutation_p.R91Q	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	488	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATCATTGAACGAGCAAGCTAC	0.488													4	34					0	0	0	0	A	54951479	G	A	54951479	3	1	71	1	0	0	0	0	1	0	0	0	16669	1058	37	1	1481	1	TRO	23	54951479	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	24978774	54951479	100319081	127	13636											
PCDH11X	27328	broad.mit.edu	37	chrX	91133549	91133549	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgttgtaattgtcaatctGttcgtgaatgagtcggtgac	9	15	12	5	2	2	3	1	3	1	0	4	3	2	3	0	1	0	3	0	1	3	4			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:91133549G>T	ENST00000373094.1	+	2	3155	c.2310G>T	c.(2308-2310)ctG>ctT	p.L770L	PCDH11X_ENST00000361724.1_Silent_p.L770L|PCDH11X_ENST00000504220.1_Silent_p.L770L|PCDH11X_ENST00000298274.8_Silent_p.L770L|PCDH11X_ENST00000361655.2_Silent_p.L770L|PCDH11X_ENST00000373097.1_Silent_p.L770L|PCDH11X_ENST00000406881.1_Silent_p.L770L|PCDH11X_ENST00000373088.1_Silent_p.L770L|PCDH11X_ENST00000395337.2_Silent_p.L770L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	770	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTGTCAATCTGTTCGTGAATG	0.423													13	91					4.36969e-10	5.35534e-10	1	0	T	91133549	G	T	91133549	2	4	71	1	0	0	0	0	0	0	0	1	11579	1364	48	4		4	PCDH11X	23	91133549	Silent	SNP	G	TCGA-CN-4738-01A-02D-1512-08	36182070	91133549	64137011	128	13637											
ARL13A	392509	broad.mit.edu	37	chrX	100243214	100243214	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaggaatgtcaaaggagaAaagacagcatctagaacaat	21	5	9	6	0	2	3	1	0	1	3	2	5	2	4	0	2	3	1	0	2	8	1			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:100243214A>G	ENST00000450049.2	+	7	799	c.686A>G	c.(685-687)aAa>aGa	p.K229R		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	229							GTP binding			endometrium(1)|ovary(1)	2						TCAAAGGAGAAAAGACAGCAT	0.418													2	15					0	0	0	0	G	100243214	A	G	100243214	3	3	71	1	0	0	0	0	1	0	0	0	930	14	1	5	708	5	ARL13A	23	100243214	Missense_Mutation	SNP	A	TCGA-CN-4738-01A-02D-1512-08	9109665	100243214	55027346	129	13638											
ZMAT1	84460	broad.mit.edu	37	chrX	101139287	101139287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaactggctttccactggtGaaatatggtatggtcgttgg	8	14	13	6	1	0	1	0	1	0	0	2	1	1	1	1	5	1	4	1	5	4	5			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:101139287G>A	ENST00000458570.1	-	9	1929	c.599C>T	c.(598-600)tCa>tTa	p.S200L	ZMAT1_ENST00000540921.1_Missense_Mutation_p.S371L|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000372782.3_Missense_Mutation_p.S371L			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	200						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCCACTGGTGAAATATGGTA	0.423													43	162					0	0	0	0	A	101139287	G	A	101139287	3	1	71	1	0	0	0	0	1	0	0	0	17786	1294	45	2	808	2	ZMAT1	23	101139287	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	896073	101139287	54131273	130	13639											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686312	125686312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccttgttgaccgtgcccaGctccagttggcgctccgtca	5	10	10	16	3	1	1	1	1	0	0	3	1	3	1	5	1	2	4	5	1	0	3			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:125686312G>T	ENST00000371126.1	-	1	522	c.280C>A	c.(280-282)Ctg>Atg	p.L94M		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	94										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACCGTGCCCAGCTCCAGTTGG	0.662													13	34					9.31168e-06	1.06888e-05	1	0	T	125686312	G	T	125686312	3	4	71	1	0	0	0	0	1	0	0	0	4297	962	34	4	1115	4	DCAF12L1	23	125686312	Missense_Mutation	SNP	G	TCGA-CN-4738-01A-02D-1512-08	24547025	125686312	29584248	131	13640											
IQCC	55721	broad.mit.edu	37	chr1	32671827	32671827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatgaggcgattgtacgaGaggtcgagggcgacctgggc	9	7	18	7	4	0	2	0	1	0	1	1	6	0	2	1	4	1	2	1	4	2	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:32671827G>A	ENST00000537469.1	+	2	402	c.355G>A	c.(355-357)Gag>Aag	p.E119K	IQCC_ENST00000291358.6_Missense_Mutation_p.E39K|RP4-622L5.7_ENST00000421616.1_RNA	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	39										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATTGTACGAGAGGTCGAGGG	0.612													56	140					0	0	0	0	A	32671827	G	A	32671827	3	1	72	1	0	0	0	0	1	0	0	0	7857	943	33	2	361	2	IQCC	1	32671827	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08		32671827	216578794	1	13641											
BMP8B	656	broad.mit.edu	37	chr1	40229411	40229411	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggtcctggaagctgacGtagagctcgtgccgacggca	8	6	15	12	5	0	2	0	1	0	1	2	5	1	3	3	3	3	4	3	3	2	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:40229411G>T	ENST00000372827.3	-	5	1296	c.921C>A	c.(919-921)taC>taA	p.Y307*	BMP8B_ENST00000397360.2_Nonsense_Mutation_p.Y332*|PPIE_ENST00000372830.1_3'UTR|PPIE_ENST00000356511.2_Silent_p.T296T	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	307					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGAAGCTGACGTAGAGCTCGT	0.562													106	61					4.60726e-43	6.21583e-43	1	0	T	40229411	G	T	40229411	4	4	72	1	0	0	0	0	0	1	0	0	1472	1140	40	3	299	3	BMP8B	1	40229411	Nonsense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	7557584	40229411	209021210	2	13642											
ST3GAL3	6487	broad.mit.edu	37	chr1	44201936	44201936	+	Translation_Start_Site	SNP	G	G	T																															atcgtaaatcatgtgaagatGggactcttggtatttgtgcg																										TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:44201936G>T	ENST00000262915.3	+	2	180	c.3G>T	c.(1-3)atG>atT	p.M1I	ST3GAL3_ENST00000372368.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000361392.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000361746.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372375.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372369.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000528371.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372372.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000533933.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000330208.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372374.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000351035.3_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000531993.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000347631.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000335430.6_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000531451.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372365.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000531816.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000353126.3_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372377.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000332628.6_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372362.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372366.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000545417.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000361812.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372367.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000361400.4_Start_Codon_SNP_p.M1I	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	1					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				ATGTGAAGATGGGACTCTTGG	0.378													71	298					2.36143e-25	3.0797e-25	1	0	T	44201936	G	T	44201936	1	4	72	1	0	0	0	0	0	0	0	0	15306	1348	47	4		4	ST3GAL3	1	44201936	Translation_Start_Site	SNP	G	TCGA-CN-4739-01A-02D-1512-08	3972525	44201936	205048685	3	13643	120	2									
ST3GAL3	6487	broad.mit.edu	37	chr1	44201937	44201937	+	Nonsense_Mutation	SNP	G	G	T																															tcgtaaatcatgtgaagatgGgactcttggtatttgtgcgc																										TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:44201937G>T	ENST00000262915.3	+	2	181	c.4G>T	c.(4-6)Gga>Tga	p.G2*	ST3GAL3_ENST00000372368.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000361392.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000361746.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372375.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372369.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000528371.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372372.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000533933.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000330208.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372374.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000351035.3_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000531993.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000347631.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000335430.6_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000531451.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372365.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000531816.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000353126.3_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372377.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000332628.6_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372362.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372366.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000545417.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000361812.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372367.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000361400.4_Nonsense_Mutation_p.G2*	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	2					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				TGTGAAGATGGGACTCTTGGT	0.378													75	299					2.141e-25	2.81568e-25	1	0	T	44201937	G	T	44201937	4	4	72	1	0	0	0	0	0	1	0	0	15306	1233	43	4	6	4	ST3GAL3	1	44201937	Nonsense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	1	44201937	205048684	4	13644	120	2									
DMBX1	127343	broad.mit.edu	37	chr1	46976315	46976315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgcaccaacctgcctgagGcccgggtgcaggtagggccc	6	6	15	14	1	0	1	0	1	0	0	0	1	0	1	5	4	4	3	5	4	2	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:46976315G>A	ENST00000371956.4	+	2	352	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	DMBX1_ENST00000360032.3_Missense_Mutation_p.A108T	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	113	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCTGCCTGAGGCCCGGGTGCA	0.602													38	49					0	0	0	0	A	46976315	G	A	46976315	3	1	72	1	0	0	0	0	1	0	0	0	4615	1203	42	4	343	4	DMBX1	1	46976315	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	2774378	46976315	202274306	5	13645											
KTI12	112970	broad.mit.edu	37	chr1	52499375	52499375	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagcgccacgcgcaacTcttcagcacgccggctcttg	7	6	10	18	5	3	0	1	0	2	0	3	0	3	0	3	1	4	3	3	1	1	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:52499375T>C	ENST00000371614.1	-	1	113	c.59A>G	c.(58-60)gAg>gGg	p.E20G	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	20							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CACGCGCAACTCTTCAGCACG	0.682													5	23					0	0	0	0	C	52499375	T	C	52499375	3	2	72	1	0	0	0	0	1	0	0	0	8637	1551	54	5	1009	5	KTI12	1	52499375	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	5523060	52499375	196751246	6	13646											
JAK1	3716	broad.mit.edu	37	chr1	65335021	65335021	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggcagttctggcaacTgcatcttcttcatcatggca	7	13	9	12	0	5	0	2	0	3	0	5	0	5	0	1	3	2	5	1	3	1	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:65335021T>A	ENST00000342505.4	-	6	868	c.620A>T	c.(619-621)cAg>cTg	p.Q207L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	207	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TTCTGGCAACTGCATCTTCTT	0.488			Mis		ALL								56	142					0	0	0	0	A	65335021	T	A	65335021	3	1	72	1	0	0	0	0	1	0	0	0	7990	1580	55	5	2924	5	JAK1	1	65335021	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	12835646	65335021	183915600	7	13647											
LPHN2	23266	broad.mit.edu	37	chr1	82436043	82436043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctacactttttctttttgGcagcttttgcttggatgtgc	4	21	8	8	0	2	0	0	0	2	0	2	1	2	1	0	2	4	3	0	2	1	9			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:82436043G>A	ENST00000370728.1	+	18	3412	c.2767G>A	c.(2767-2769)Gca>Aca	p.A923T	LPHN2_ENST00000370723.1_Missense_Mutation_p.A910T|LPHN2_ENST00000370713.1_Missense_Mutation_p.A910T|LPHN2_ENST00000370715.1_Missense_Mutation_p.A910T|LPHN2_ENST00000271029.4_Missense_Mutation_p.A923T|LPHN2_ENST00000370725.1_Missense_Mutation_p.A923T|LPHN2_ENST00000370717.2_Missense_Mutation_p.A923T|LPHN2_ENST00000394879.1_Missense_Mutation_p.A910T|LPHN2_ENST00000370727.1_Missense_Mutation_p.A923T|LPHN2_ENST00000319517.6_Missense_Mutation_p.A910T|LPHN2_ENST00000335786.5_Missense_Mutation_p.A923T|LPHN2_ENST00000359929.3_Missense_Mutation_p.A910T|LPHN2_ENST00000370730.1_Missense_Mutation_p.A923T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.A848T			O95490	LPHN2_HUMAN	latrophilin 2	923					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTTCTTTTTGGCAGCTTTTGC	0.358													75	254					0	0	0	0	A	82436043	G	A	82436043	3	1	72	1	0	0	0	0	1	0	0	0	8980	1203	42	4	2778	4	LPHN2	1	82436043	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	17101022	82436043	166814578	8	13648											
OLFM3	118427	broad.mit.edu	37	chr1	102270397	102270397	+	Silent	SNP	C	C	A																															ttgtatgtccttgattcagcCccactgacaaagtctgcaat																										TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:102270397C>A	ENST00000370103.4	-	6	987	c.774G>T	c.(772-774)ggG>ggT	p.G258G	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Silent_p.G278G	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	278	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTGATTCAGCCCCACTGACAA	0.368													26	110					1.26454e-06	1.40855e-06	1	0	A	102270397	C	A	102270397	2	1	72	1	0	0	0	0	0	0	0	1	10925	610	22	4		4	OLFM3	1	102270397	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	19834354	102270397	146980224	9	13649	121	2									
OLFM3	118427	broad.mit.edu	37	chr1	102270399	102270399	+	Missense_Mutation	SNP	C	C	A																															gtatgtccttgattcagcccCactgacaaagtctgcaattg																										TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:102270399C>A	ENST00000370103.4	-	6	985	c.772G>T	c.(772-774)Ggg>Tgg	p.G258W	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.G278W	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	278	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GATTCAGCCCCACTGACAAAG	0.368													27	109					2.14196e-07	2.42033e-07	1	0	A	102270399	C	A	102270399	3	1	72	1	0	0	0	0	1	0	0	0	10925	594	21	4	608	4	OLFM3	1	102270399	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	2	102270399	146980222	10	13650	121	2									
CELSR2	1952	broad.mit.edu	37	chr1	109811810	109811810	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacggcgacagcgacggcAcccggagctgagccagggtg	8	2	18	13	5	0	1	0	1	0	0	0	4	0	2	2	5	3	3	2	5	0	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:109811810A>G	ENST00000271332.3	+	20	6771	c.6710A>G	c.(6709-6711)cAc>cGc	p.H2237R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2237					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAGCGACGGCACCCGGAGCTG	0.682													13	53					0	0	0	0	G	109811810	A	G	109811810	3	3	72	1	0	0	0	0	1	0	0	0	3251	159	6	5	6788	5	CELSR2	1	109811810	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	7541411	109811810	139438811	11	13651											
CSDE1	7812	broad.mit.edu	37	chr1	115272925	115272925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttaggattggaaaaaGtggcttctttttctaccgtg	8	17	11	5	1	2	0	0	0	2	0	2	2	2	2	1	4	1	2	1	4	4	7			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:115272925G>T	ENST00000438362.2	-	12	1826	c.1448C>A	c.(1447-1449)aCt>aAt	p.T483N	CSDE1_ENST00000358528.4_Missense_Mutation_p.T437N|CSDE1_ENST00000339438.6_Missense_Mutation_p.T406N|CSDE1_ENST00000369530.1_Missense_Mutation_p.T452N|CSDE1_ENST00000261443.5_Missense_Mutation_p.T406N|CSDE1_ENST00000534699.1_Missense_Mutation_p.T437N|CSDE1_ENST00000530886.1_Missense_Mutation_p.T307N	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	437	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		ATTGGAAAAAGTGGCTTCTTT	0.378													15	186					2.32078e-09	2.71047e-09	1	0	T	115272925	G	T	115272925	3	4	72	1	0	0	0	0	1	0	0	0	3961	1029	36	4	1122	4	CSDE1	1	115272925	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	5461115	115272925	133977696	12	13652											
OTUD7B	56957	broad.mit.edu	37	chr1	149915890	149915890	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcggttgtttgcatttggTctgagttgggggaaggcccc	4	14	16	7	1	1	1	0	1	1	0	2	2	1	2	2	5	1	5	2	5	1	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:149915890T>A	ENST00000369135.3	-	12	2692	c.2398A>T	c.(2398-2400)Acc>Tcc	p.T800S		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	800					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TTGCATTTGGTCTGAGTTGGG	0.557													68	205					0	0	0	0	A	149915890	T	A	149915890	3	1	72	1	0	0	0	0	1	0	0	0	11390	1667	58	5	137	5	OTUD7B	1	149915890	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	34642965	149915890	99334731	13	13653											
FLG	2312	broad.mit.edu	37	chr1	152277524	152277524	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtccaccagaggaagtctCtgcgtgacgagtgcctgatt	8	10	12	11	2	1	3	0	2	1	1	3	5	2	4	3	1	2	0	3	1	1	1	rs143421504		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:152277524C>G	ENST00000368799.1	-	3	9873	c.9838G>C	c.(9838-9840)Gag>Cag	p.E3280Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3280	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGTCTCTGCGTGACGA	0.602									Ichthyosis				64	581					0	0	0	0	G	152277524	C	G	152277524	3	3	72	1	0	0	0	0	1	0	0	0	5967	922	32	2	2351	2	FLG	1	152277524	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	2361634	152277524	96973097	14	13654											
FLG	2312	broad.mit.edu	37	chr1	152282662	152282662	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtctagagctgccggccCgagtggaaggttcatggtga	8	9	16	8	2	2	2	1	1	1	1	2	4	2	3	2	4	2	2	2	4	2	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:152282662C>A	ENST00000368799.1	-	3	4735	c.4700G>T	c.(4699-4701)cGg>cTg	p.R1567L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1567	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1567Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCCGGCCCGAGTGGAAGG	0.582									Ichthyosis				79	321					1.49228e-48	2.02201e-48	1	0	A	152282662	C	A	152282662	3	1	72	1	0	0	0	0	1	0	0	0	5967	652	23	3	7489	3	FLG	1	152282662	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	5138	152282662	96967959	15	13655											
SHE	126669	broad.mit.edu	37	chr1	154459001	154459001	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatctgaggaggagactcAcggctgcttctccaggggca	9	7	15	10	1	3	2	1	1	2	1	4	5	3	4	1	6	1	3	1	6	0	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:154459001A>T	ENST00000304760.2	-	4	1268		c.e4+1			NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E											breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGGAGACTCACGGCTGCTTC	0.537													27	112					0	0	0	0	T	154459001	A	T	154459001	5	4	72	1	0	0	0	0	0	0	1	0	14364	173	6	5	316	5	SHE	1	154459001	Splice_Site	SNP	A	TCGA-CN-4739-01A-02D-1512-08	2176339	154459001	94791620	16	13656											
GPATCH4	54865	broad.mit.edu	37	chr1	156565514	156565514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttctttttcttttttttggGgggcttgctctctgactgca	2	22	9	8	0	3	1	0	1	3	0	4	1	3	1	0	3	2	3	0	3	0	8			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:156565514G>C	ENST00000368232.4	-	8	736	c.604C>G	c.(604-606)Ccc>Gcc	p.P202A	GPATCH4_ENST00000438976.2_Missense_Mutation_p.P207A|GPATCH4_ENST00000497287.1_5'UTR	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	202						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTTTTTGGGGGGCTTGCTC	0.547													30	148					0	0	0	0	C	156565514	G	C	156565514	3	2	72	1	0	0	0	0	1	0	0	0	6642	1232	43	4	512	4	GPATCH4	1	156565514	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	2106513	156565514	92685107	17	13657											
PYHIN1	149628	broad.mit.edu	37	chr1	158906896	158906896	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgccggtttgggcaaactaAtagaattcttcaaagaaata	16	11	8	6	1	2	2	1	0	1	2	2	2	2	2	1	2	2	2	1	2	7	6			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:158906896A>G	ENST00000368140.1	+	2	441	c.196A>G	c.(196-198)Ata>Gta	p.I66V	PYHIN1_ENST00000368138.3_Missense_Mutation_p.I66V|PYHIN1_ENST00000368135.4_Missense_Mutation_p.I66V|PYHIN1_ENST00000392254.2_Missense_Mutation_p.I66V|PYHIN1_ENST00000392252.3_Missense_Mutation_p.I66V	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	66	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GGGCAAACTAATAGAATTCTT	0.383													31	92					0	0	0	0	G	158906896	A	G	158906896	3	3	72	1	0	0	0	0	1	0	0	0	12947	101	4	5	198	5	PYHIN1	1	158906896	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	2341382	158906896	90343725	18	13658											
CCDC19	25790	broad.mit.edu	37	chr1	159850410	159850410	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgagccagcagttctgcTttctgtttctggttttcatc	4	18	8	11	0	4	1	1	1	3	0	6	1	5	1	2	1	3	5	2	1	0	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:159850410T>C	ENST00000426543.2	-	8	1178	c.723A>G	c.(721-723)aaA>aaG	p.K241K	CCDC19_ENST00000368099.4_Silent_p.K326K|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	326						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCAGTTCTGCTTTCTGTTTCT	0.463													48	162					0	0	0	0	C	159850410	T	C	159850410	2	2	72	1	0	0	0	0	0	0	0	1	2821	1606	56	5		5	CCDC19	1	159850410	Silent	SNP	T	TCGA-CN-4739-01A-02D-1512-08	943514	159850410	89400211	19	13659											
SELP	6403	broad.mit.edu	37	chr1	169582194	169582194	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggaggcttatttgtccAgattccagaagccaagcatt	10	12	10	9	0	0	2	0	0	0	2	2	3	2	3	3	2	2	2	3	2	3	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:169582194A>T	ENST00000263686.6	-	5	785	c.748T>A	c.(748-750)Tgg>Agg	p.W250R	SELP_ENST00000367786.2_Missense_Mutation_p.W250R|SELP_ENST00000458599.2_Missense_Mutation_p.W250R|SELP_ENST00000367792.2_Missense_Mutation_p.W250R|SELP_ENST00000367793.2_Missense_Mutation_p.W250R|SELP_ENST00000367788.2_Missense_Mutation_p.W250R|SELP_ENST00000367794.2_Missense_Mutation_p.W250R|SELP_ENST00000367791.2_Missense_Mutation_p.W250R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	250	Sushi 1.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTATTTGTCCAGATTCCAGAA	0.458													32	105					0	0	0	0	T	169582194	A	T	169582194	3	4	72	1	0	0	0	0	1	0	0	0	14106	188	7	5	1792	5	SELP	1	169582194	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	9731784	169582194	79668427	20	13660											
XPR1	9213	broad.mit.edu	37	chr1	180780558	180780558	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcctgcaccagcatggActacttttagagttggccta	10	10	9	12	0	0	1	0	0	0	1	0	2	0	2	3	2	4	3	3	2	3	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:180780558A>T	ENST00000367590.4	+	7	895	c.697A>T	c.(697-699)Act>Tct	p.T233S	XPR1_ENST00000367589.3_Missense_Mutation_p.T233S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	233						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ACCAGCATGGACTACTTTTAG	0.328													49	135					0	0	0	0	T	180780558	A	T	180780558	3	4	72	1	0	0	0	0	1	0	0	0	17547	275	10	5	723	5	XPR1	1	180780558	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	11198364	180780558	68470063	21	13661											
CFHR5	81494	broad.mit.edu	37	chr1	196971751	196971751	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagaagcaaaagaaatTgtatgtaaagatggacgatg	17	9	10	5	1	0	3	0	0	0	3	1	5	1	4	1	1	1	3	1	1	7	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:196971751T>A	ENST00000367414.5	+	8	1415	c.1359T>A	c.(1357-1359)atT>atA	p.I453I	CFHR5_ENST00000256785.4_Silent_p.I429I	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	429	Sushi 8.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CAAAAGAAATTGTATGTAAAG	0.348													31	72					0	0	0	0	A	196971751	T	A	196971751	2	1	72	1	0	0	0	0	0	0	0	1	3317	1800	63	5		5	CFHR5	1	196971751	Silent	SNP	T	TCGA-CN-4739-01A-02D-1512-08	16191193	196971751	52278870	22	13662											
CFHR5	81494	broad.mit.edu	37	chr1	196973835	196973835	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccatctattaacaatggaGataccacctcattcccatta	13	12	3	13	0	2	1	1	0	1	1	4	2	4	1	4	1	2	0	4	1	5	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:196973835G>C	ENST00000367414.5	+	9	1503	c.1447G>C	c.(1447-1449)Gat>Cat	p.D483H	CFHR5_ENST00000256785.4_Missense_Mutation_p.D459H	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	459	Sushi 8.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TAACAATGGAGATACCACCTC	0.398													56	191					0	0	0	0	C	196973835	G	C	196973835	3	2	72	1	0	0	0	0	1	0	0	0	3317	942	33	2	1409	2	CFHR5	1	196973835	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	2084	196973835	52276786	23	13663											
CRB1	23418	broad.mit.edu	37	chr1	197396747	197396747	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacttatcaatatatccgTgtctggctagagcgcggcag	10	10	11	10	3	2	1	1	0	1	1	3	1	3	1	1	2	2	3	1	2	5	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:197396747T>A	ENST00000367397.1	+	3	1293	c.435T>A	c.(433-435)cgT>cgA	p.R145R	CRB1_ENST00000367399.2_Silent_p.R652R|CRB1_ENST00000367400.3_Silent_p.R764R|CRB1_ENST00000535699.1_Silent_p.R695R|CRB1_ENST00000544212.1_Silent_p.R245R|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	764	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATATATCCGTGTCTGGCTAG	0.428													21	57					0	0	0	0	A	197396747	T	A	197396747	2	1	72	1	0	0	0	0	0	0	0	1	3878	1683	59	5		5	CRB1	1	197396747	Silent	SNP	T	TCGA-CN-4739-01A-02D-1512-08	422912	197396747	51853874	24	13664											
NAV1	89796	broad.mit.edu	37	chr1	201758873	201758873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccttctctttcagttcacGgctcagtgctgtccctggcc	3	14	8	16	1	4	0	3	0	1	0	7	0	6	0	3	2	1	3	3	2	0	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:201758873G>A	ENST00000367296.4	+	11	3592	c.3172G>A	c.(3172-3174)Ggc>Agc	p.G1058S	NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367302.1_Missense_Mutation_p.G1014S|NAV1_ENST00000367297.4_Missense_Mutation_p.G1058S|NAV1_ENST00000295624.6_Missense_Mutation_p.G1058S|NAV1_ENST00000367295.1_Missense_Mutation_p.G667S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.G1001S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1058					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTCAGTTCACGGCTCAGTGCT	0.517													12	148					0	0	0	0	A	201758873	G	A	201758873	3	1	72	1	0	0	0	0	1	0	0	0	10253	1116	39	1	3271	1	NAV1	1	201758873	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	4362126	201758873	47491748	25	13665											
RYR2	6262	broad.mit.edu	37	chr1	237993869	237993869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggataggcaatgattacttcGacacagtgccacatggcttt	11	11	10	9	1	0	1	0	1	0	0	1	3	0	2	1	3	2	2	1	3	3	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:237993869G>A	ENST00000366574.2	+	103	15012	c.14695G>A	c.(14695-14697)Gac>Aac	p.D4899N	RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.D4905N|RYR2_ENST00000542537.1_Missense_Mutation_p.D4883N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4899					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATTACTTCGACACAGTGCC	0.418													56	199					0	0	0	0	A	237993869	G	A	237993869	3	1	72	1	0	0	0	0	1	0	0	0	13854	1058	37	1	15105	1	RYR2	1	237993869	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	36234996	237993869	11256752	26	13666											
PLD5	200150	broad.mit.edu	37	chr1	242277263	242277263	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatactgcttggcatcatcTatcacactgtagatggcatc	11	12	7	11	0	3	1	2	0	1	1	4	1	3	1	0	2	2	4	0	2	3	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:242277263T>A	ENST00000442594.2	-	8	1232	c.723A>T	c.(721-723)atA>atT	p.I241I	PLD5_ENST00000536534.1_Silent_p.I333I|PLD5_ENST00000427495.1_Silent_p.I271I	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	333	PLD phosphodiesterase 1.					integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGGCATCATCTATCACACTGT	0.433													49	127					0	0	0	0	A	242277263	T	A	242277263	2	1	72	1	0	0	0	0	0	0	0	1	12121	1512	53	5		5	PLD5	1	242277263	Silent	SNP	T	TCGA-CN-4739-01A-02D-1512-08	4283394	242277263	6973358	27	13667											
TFB2M	64216	broad.mit.edu	37	chr1	246704441	246704441	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagggtgcatgttaactacTttctcatcctcctgttttcc	6	17	7	11	0	1	1	1	1	1	0	5	1	4	1	3	1	3	3	3	1	2	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:246704441T>C	ENST00000366514.4	-	8	1268	c.1083A>G	c.(1081-1083)aaA>aaG	p.K361K		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	361					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TGTTAACTACTTTCTCATCCT	0.353													8	111					0	0	0	0	C	246704441	T	C	246704441	2	2	72	1	0	0	0	0	0	0	0	1	15888	1606	56	5		5	TFB2M	1	246704441	Silent	SNP	T	TCGA-CN-4739-01A-02D-1512-08	4427178	246704441	2546180	28	13668											
CNST	163882	broad.mit.edu	37	chr1	246823595	246823595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacacaaaccatctaagcGaagagtgagattccaagaaa	19	5	8	9	1	1	3	0	1	1	3	2	5	2	3	2	0	3	1	2	0	6	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:246823595G>T	ENST00000366513.4	+	10	2200	c.1931G>T	c.(1930-1932)cGa>cTa	p.R644L		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	644					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CCATCTAAGCGAAGAGTGAGA	0.438													66	172					1.84395e-34	2.45599e-34	1	0	T	246823595	G	T	246823595	3	4	72	1	0	0	0	0	1	0	0	0	3664	1058	37	3	1980	3	CNST	1	246823595	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	119154	246823595	2427026	29	13669											
ZNF695	57116	broad.mit.edu	37	chr1	247163376	247163376	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccctgaatgccaatagtcCctgaaaaagaaaacatattt	17	10	5	9	0	0	3	0	2	0	1	2	3	2	3	3	0	2	0	3	0	8	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:247163376C>T	ENST00000339986.7	-	2	151	c.3_splice	c.e2-1	p.G2_splice	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Splice_Site_p.G2_splice	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	2					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCCAATAGTCCCTGAAAAAGA	0.453													22	52					0	0	0	0	T	247163376	C	T	247163376	5	4	72	1	0	0	0	0	0	0	1	0	18193	637	22	4	1555	4	ZNF695	1	247163376	Splice_Site	SNP	C	TCGA-CN-4739-01A-02D-1512-08	339781	247163376	2087245	30	13670											
KCNF1	3754	broad.mit.edu	37	chr2	11052775	11052775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgactacgaccccggcaagCgcgagttctactttgacagg	10	7	11	13	5	1	1	0	1	1	0	1	4	1	1	2	2	3	2	2	2	3	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:11052775C>T	ENST00000295082.1	+	1	713	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	75						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCCCGGCAAGCGCGAGTTCTA	0.592													10	47					0	0	0	0	T	11052775	C	T	11052775	3	4	72	1	0	0	0	0	1	0	0	0	8079	768	27	1	225	1	KCNF1	2	11052775	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08		11052775	232146598	31	13671											
ROCK2	9475	broad.mit.edu	37	chr2	11332363	11332363	+	Frame_Shift_Del	DEL	A	A	-																															gttctaggagatgatcgggcAaaagggtctggagctggggg																										TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:11332363delA	ENST00000315872.6	-	32	4522	c.4074delT	c.(4072-4074)ttfs	p.F1358fs	ROCK2_ENST00000401753.1_Frame_Shift_Del_p.F1115fs	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1358					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATGATCGGGCAAAAGGGTCTG	0.433													7	406	---	---	---	---					-	11332363	A	-	11332363	7	5	72	1	0	1	0	1	0	0	0	0	13603	127	5	0	100	0	ROCK2	2	11332363	Frame_Shift_Del	DEL	A	TCGA-CN-4739-01A-02D-1512-08	279588	11332363	231867010	32	13672											
CAD	790	broad.mit.edu	37	chr2	27465288	27465288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagctgggaactgtcaatgGcatgacggtgagggtggtgg	8	8	20	5	1	1	2	1	2	0	0	1	4	1	4	0	7	2	2	0	7	2	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:27465288G>A	ENST00000264705.4	+	40	6377	c.6215G>A	c.(6214-6216)gGc>gAc	p.G2072D	CAD_ENST00000403525.1_Missense_Mutation_p.G2009D	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	2072	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACTGTCAATGGCATGACGGTG	0.612													3	47					0	0	0	0	A	27465288	G	A	27465288	3	1	72	1	0	0	0	0	1	0	0	0	2590	1203	42	4	6373	4	CAD	2	27465288	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	16132925	27465288	215734085	33	13673											
SLC8A1	6546	broad.mit.edu	37	chr2	40366736	40366736	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaaacaggaccttccagaAcacagtcagaaagtgcatca	16	5	9	11	0	2	2	2	0	0	2	3	3	3	3	2	2	3	2	2	2	3	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:40366736A>G	ENST00000406785.1	-	7	2431	c.2242T>C	c.(2242-2244)Ttc>Ctc	p.F748L	SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F784L|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.F779L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.F748L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F776L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.F784L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F748L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F748L|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F748L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F779L|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	784					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.F784L(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCTTCCAGAACACAGTCAGA	0.498													41	120					0	0	0	0	G	40366736	A	G	40366736	3	3	72	1	0	0	0	0	1	0	0	0	14794	43	2	5	579	5	SLC8A1	2	40366736	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	12901448	40366736	202832637	34	13674											
RETSAT	54884	broad.mit.edu	37	chr2	85581597	85581597	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaggacggccagcagcaGcacagccaggagcagcacca	13	0	14	14	1	0	1	0	0	0	1	0	3	0	3	3	3	6	6	3	3	0	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:85581597G>A	ENST00000295802.4	-	1	146	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	RETSAT_ENST00000263854.6_Silent_p.L12L|RETSAT_ENST00000457495.2_Silent_p.L12L	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	12					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.L12L(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GCCAGCAGCAGCACAGCCAGG	0.622													31	59					0	0	0	0	A	85581597	G	A	85581597	2	1	72	1	0	0	0	0	0	0	0	1	13320	962	34	4		4	RETSAT	2	85581597	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	45214861	85581597	157617776	35	13675											
EDAR	10913	broad.mit.edu	37	chr2	109527277	109527277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctcacttgggcctccaCgctcttccccgggtggctgg	2	11	12	16	2	2	0	1	0	1	0	4	0	4	0	4	4	1	3	4	4	0	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:109527277C>T	ENST00000409271.1	-	8	1224	c.781G>A	c.(781-783)Gtg>Atg	p.V261M	EDAR_ENST00000376651.1_Missense_Mutation_p.V261M|EDAR_ENST00000258443.2_Missense_Mutation_p.V229M			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	229					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TGGGCCTCCACGCTCTTCCCC	0.632													6	64					0	0	0	0	T	109527277	C	T	109527277	3	4	72	1	0	0	0	0	1	0	0	0	4941	536	19	1	681	1	EDAR	2	109527277	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	23945680	109527277	133672096	36	13676											
THSD7B	80731	broad.mit.edu	37	chr2	138169326	138169326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcagaagggagcctcaccGaggactgcgggtacaagcag	12	3	16	10	2	1	1	1	0	0	1	1	4	1	3	2	4	4	3	2	4	3	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:138169326G>A	ENST00000409968.1	+	14	3021	c.2843G>A	c.(2842-2844)cGa>cAa	p.R948Q	THSD7B_ENST00000413152.2_Missense_Mutation_p.R917Q|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R948Q					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGCCTCACCGAGGACTGCGG	0.488													6	150					0	0	0	0	A	138169326	G	A	138169326	3	1	72	1	0	0	0	0	1	0	0	0	15974	1058	37	1	2800	1	THSD7B	2	138169326	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	28642049	138169326	105030047	37	13677											
LRP1B	53353	broad.mit.edu	37	chr2	141116461	141116461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgctccgactgtaggCatattctgttatttctgcat	8	17	7	9	1	2	0	0	0	2	0	3	1	3	0	1	1	2	5	1	1	3	6	rs145962775		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:141116461C>G	ENST00000389484.3	-	73	12157	c.11186G>C	c.(11185-11187)tGc>tCc	p.C3729S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3729	LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGACTGTAGGCATATTCTGTT	0.383										TSP Lung(27;0.18)			48	123					0	0	0	0	G	141116461	C	G	141116461	3	3	72	1	0	0	0	0	1	0	0	0	9019	710	25	4	2689	4	LRP1B	2	141116461	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	2947135	141116461	102082912	38	13678											
LRP1B	53353	broad.mit.edu	37	chr2	141299474	141299474	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcttcttccccagtccgAccagaatatataattgtcat	11	13	5	12	1	3	1	1	0	2	1	5	2	5	1	4	0	1	1	4	0	4	6			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:141299474A>T	ENST00000389484.3	-	44	8232	c.7261T>A	c.(7261-7263)Tcg>Acg	p.S2421T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2421					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCCAGTCCGACCAGAATATA	0.388										TSP Lung(27;0.18)			40	106					0	0	0	0	T	141299474	A	T	141299474	3	4	72	1	0	0	0	0	1	0	0	0	9019	275	10	5	6730	5	LRP1B	2	141299474	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	183013	141299474	101899899	39	13679											
LRP1B	53353	broad.mit.edu	37	chr2	141643801	141643801	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaaaatcaagtgctatTgtgtttctcaatccaggaac	14	12	8	7	0	2	1	2	1	1	0	4	2	3	2	1	1	2	2	1	1	7	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:141643801T>A	ENST00000389484.3	-	24	4841	c.3870A>T	c.(3868-3870)acA>acT	p.T1290T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1290					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAGTGCTATTGTGTTTCTCA	0.358										TSP Lung(27;0.18)			34	95					0	0	0	0	A	141643801	T	A	141643801	2	1	72	1	0	0	0	0	0	0	0	1	9019	1799	63	5		5	LRP1B	2	141643801	Silent	SNP	T	TCGA-CN-4739-01A-02D-1512-08	344327	141643801	101555572	40	13680											
CYTIP	9595	broad.mit.edu	37	chr2	158283872	158283872	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattaaattacctttaaaacCtgcagctttgcttcaagctc	13	14	4	10	0	1	0	1	0	0	0	2	0	1	0	2	0	6	4	2	0	7	6			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:158283872C>T	ENST00000264192.3	-	6	658	c.537G>A	c.(535-537)caG>caA	p.Q179Q	CYTIP_ENST00000540637.1_Silent_p.Q73Q	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	179	Interaction with CYTH1.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CCTTTAAAACCTGCAGCTTTG	0.363													9	28					0	0	0	0	T	158283872	C	T	158283872	2	4	72	1	0	0	0	0	0	0	0	1	4239	680	24	4		4	CYTIP	2	158283872	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	16640071	158283872	84915501	41	13681											
XIRP2	129446	broad.mit.edu	37	chr2	168103683	168103683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacctggaaacatcactaagGtctttgaaagaagcacaaag	17	7	9	8	0	2	2	1	1	1	1	2	4	2	3	1	2	2	1	1	2	5	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:168103683G>T	ENST00000409195.1	+	9	5870	c.5781G>T	c.(5779-5781)agG>agT	p.R1927S	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1927S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1705S|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1752					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						CATCACTAAGGTCTTTGAAAG	0.363													19	45					2.35188e-11	2.8313e-11	1	0	T	168103683	G	T	168103683	3	4	72	1	0	0	0	0	1	0	0	0	17526	1252	44	4	5811	4	XIRP2	2	168103683	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	9819811	168103683	75095690	42	13682											
CCNYL1	151195	broad.mit.edu	37	chr2	208576752	208576752	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacgcggtggcggtagcGcccgctgtggtggagcctgc	3	6	21	11	5	0	0	0	0	0	0	0	2	0	2	2	7	3	2	2	7	1	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:208576752G>T	ENST00000295414.3	+	1	343	c.132G>T	c.(130-132)gcG>gcT	p.A44A	CCNYL1_ENST00000420822.1_Silent_p.A44A|CCNYL1_ENST00000392209.3_5'UTR|CCNYL1_ENST00000339882.5_Silent_p.A44A			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	44					regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		TGGCGGTAGCGCCCGCTGTGG	0.706													4	6					0.150653	0.152111	1	0	T	208576752	G	T	208576752	2	4	72	1	0	0	0	0	0	0	0	1	2966	1074	38	3		3	CCNYL1	2	208576752	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	40473069	208576752	34622621	43	13683											
GMPPA	29926	broad.mit.edu	37	chr2	220369977	220369977	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaccaggcttgtggccaggGgcaggtaccatccgcctaga	8	7	13	13	1	1	1	1	0	0	1	2	1	2	1	5	5	1	3	5	5	2	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:220369977G>A	ENST00000358215.3	+	8	1017	c.648G>A	c.(646-648)ggG>ggA	p.G216G	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Silent_p.G216G|GMPPA_ENST00000373917.3_Silent_p.G216G|GMPPA_ENST00000313597.5_Silent_p.G216G|GMPPA_ENST00000341142.3_Silent_p.G216G	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	216					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TGTGGCCAGGGGCAGGTACCA	0.577													7	52					0	0	0	0	A	220369977	G	A	220369977	2	1	72	1	0	0	0	0	0	0	0	1	6545	1219	43	4		4	GMPPA	2	220369977	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	11793225	220369977	22829396	44	13684											
PAX3	5077	broad.mit.edu	37	chr2	223158889	223158889	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggcgccaccgcttacctcGctcgctcaggatgccgtcga	7	7	11	16	6	1	0	1	0	0	0	4	2	1	1	4	2	2	3	4	2	2	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:223158889G>T	ENST00000350526.4	-	4	719	c.583C>A	c.(583-585)Cga>Aga	p.R195R	PAX3_ENST00000392069.2_Silent_p.R195R|PAX3_ENST00000258387.5_Silent_p.R195R|PAX3_ENST00000409551.3_Silent_p.R194R|PAX3_ENST00000336840.6_Silent_p.R195R|PAX3_ENST00000344493.4_Silent_p.R195R|PAX3_ENST00000409828.3_Silent_p.R195R|PAX3_ENST00000392070.2_Silent_p.R195R	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	195					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCTTACCTCGCTCGCTCAGG	0.612			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						20	176					2.37509e-13	2.92679e-13	1	0	T	223158889	G	T	223158889	2	4	72	1	0	0	0	0	0	0	0	1	11551	1095	38	3		3	PAX3	2	223158889	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	2788912	223158889	20040484	45	13685											
THAP4	51078	broad.mit.edu	37	chr2	242576355	242576355	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcggcccggggcccgcgtaCctgtggaaggagacggcgcg	5	3	20	13	7	0	1	0	0	0	1	0	3	0	2	3	7	1	1	3	7	2	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:242576355C>A	ENST00000407315.1	-	1	509		c.e1+1			NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4								DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		ggcccgcgTACCTGTGGAAGG	0.786													3	6					6.4e-05	6.90759e-05	1	0	A	242576355	C	A	242576355	5	1	72	1	0	0	0	0	0	0	1	0	15940	521	18	4	1687	4	THAP4	2	242576355	Splice_Site	SNP	C	TCGA-CN-4739-01A-02D-1512-08	19417466	242576355	623018	46	13686											
ULK4	54986	broad.mit.edu	37	chr3	41439704	41439704	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatacagctgaaccagtaTagacaggcacttggatgaaa	15	8	9	9	0	0	3	0	2	0	1	1	4	1	4	2	2	3	3	2	2	5	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:41439704T>C	ENST00000301831.4	-	35	4006	c.3544A>G	c.(3544-3546)Ata>Gta	p.I1182V		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1182							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TGAACCAGTATAGACAGGCAC	0.393													28	105					0	0	0	0	C	41439704	T	C	41439704	3	2	72	1	0	0	0	0	1	0	0	0	17074	1406	49	5	295	5	ULK4	3	41439704	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08		41439704	156582726	47	13687											
ADAMTS9	56999	broad.mit.edu	37	chr3	64582637	64582637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacatacaacaacacgccGctgggatccgccagcacagg	12	4	10	15	3	0	1	0	1	0	0	1	2	1	2	3	2	4	2	3	2	3	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:64582637G>A	ENST00000498707.1	-	27	4390	c.4048C>T	c.(4048-4050)Cgg>Tgg	p.R1350W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1322W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1350	TSP type-1 9.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACAACACGCCGCTGGGATCCG	0.498													24	73					0	0	0	0	A	64582637	G	A	64582637	3	1	72	1	0	0	0	0	1	0	0	0	273	1086	38	1	1811	1	ADAMTS9	3	64582637	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	23142933	64582637	133439793	48	13688											
MAGI1	9223	broad.mit.edu	37	chr3	65350391	65350391	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagattcctgctttggtttGgtggtattcctgccaaagtg	6	16	12	7	0	0	1	0	1	0	1	2	2	2	1	3	3	2	3	3	3	2	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:65350391G>A	ENST00000330909.8	-	21	3383	c.3384C>T	c.(3382-3384)acC>acT	p.T1128T	MAGI1_ENST00000402939.2_Silent_p.T1100T|MAGI1_ENST00000497477.2_Silent_p.T1033T|MAGI1_ENST00000483466.1_Silent_p.T1129T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1129	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCTTTGGTTTGGTGGTATTCC	0.393													29	97					0	0	0	0	A	65350391	G	A	65350391	2	1	72	1	0	0	0	0	0	0	0	1	9259	1335	47	4		4	MAGI1	3	65350391	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	767754	65350391	132672039	49	13689											
RYBP	23429	broad.mit.edu	37	chr3	72495696	72495696	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgcatttaaaggcttCagcactgtttctgaaggtgc	9	13	11	8	0	2	1	1	1	1	0	2	2	2	1	0	2	4	5	0	2	3	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:72495696C>A	ENST00000477973.1	-	1	373	c.374G>T	c.(373-375)tGa>tTa	p.*125L		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TTAAAGGCTTCAGCACTGTTT	0.468													4	24					0.000602214	0.000634657	1	0	A	72495696	C	A	72495696	4	1	72	1	0	0	0	0	0	0	0	0	13851	835	29	2	593	2	RYBP	3	72495696	Nonstop_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	7145305	72495696	125526734	50	13690											
PDZRN3	23024	broad.mit.edu	37	chr3	73433986	73433986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctctcgtcattacgggtGctctcgtcggtccgccccac	4	10	11	16	5	3	0	1	0	2	0	7	1	4	0	3	2	3	2	3	2	1	1	rs151244384		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:73433986G>T	ENST00000263666.4	-	10	1845	c.1731C>A	c.(1729-1731)agC>agA	p.S577R	PDZRN3_ENST00000535920.1_Missense_Mutation_p.S299R|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S234R|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S234R|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S294R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	577							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CATTACGGGTGCTCTCGTCGG	0.622													12	42					4.3838e-07	4.93572e-07	1	0	T	73433986	G	T	73433986	3	4	72	1	0	0	0	0	1	0	0	0	11780	1310	46	4	1473	4	PDZRN3	3	73433986	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	938290	73433986	124588444	51	13691											
EPHA3	2042	broad.mit.edu	37	chr3	89521735	89521735	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacgggtgtggagtacAgttcttgtgacacaatagcc	9	12	11	9	1	3	1	1	1	2	0	3	2	3	2	1	2	2	2	1	2	3	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:89521735A>G	ENST00000336596.2	+	16	3037	c.2812A>G	c.(2812-2814)Agt>Ggt	p.S938G	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	938	SAM.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTGGAGTACAGTTCTTGTGA	0.408										TSP Lung(6;0.00050)			28	124					0	0	0	0	G	89521735	A	G	89521735	3	3	72	1	0	0	0	0	1	0	0	0	5206	188	7	5	2900	5	EPHA3	3	89521735	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	16087749	89521735	108500695	52	13692											
DCBLD2	131566	broad.mit.edu	37	chr3	98520447	98520447	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagaccacgtgagttacctgCccggtcccagtaaggtaagt	11	8	11	11	2	0	2	0	1	0	1	1	2	1	2	4	2	2	3	4	2	4	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:98520447C>G	ENST00000326840.6	-	14	2079	c.1717G>C	c.(1717-1719)Gca>Cca	p.A573P	DCBLD2_ENST00000326857.9_Missense_Mutation_p.A573P	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	573					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GAGTTACCTGCCCGGTCCCAG	0.458													10	19					0	0	0	0	G	98520447	C	G	98520447	3	3	72	1	0	0	0	0	1	0	0	0	4313	739	26	4	622	4	DCBLD2	3	98520447	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	8998712	98520447	99501983	53	13693											
MORC1	27136	broad.mit.edu	37	chr3	108725922	108725922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgacagtgatttcgtccActggtataaattgaggcttt	11	14	10	6	1	0	3	0	3	0	0	2	3	1	3	1	2	0	2	1	2	4	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:108725922A>G	ENST00000232603.5	-	18	1803	c.1721T>C	c.(1720-1722)gTg>gCg	p.V574A	MORC1_ENST00000483760.1_Intron	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	574					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GATTTCGTCCACTGGTATAAA	0.363													24	108					0	0	0	0	G	108725922	A	G	108725922	3	3	72	1	0	0	0	0	1	0	0	0	9771	159	6	5	1277	5	MORC1	3	108725922	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	10205475	108725922	89296508	54	13694											
DPPA2	151871	broad.mit.edu	37	chr3	109028054	109028054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgagttgttgacaccagTcccgcaaagtgtcccgacac	11	7	9	14	3	0	1	0	1	0	0	2	3	2	1	4	0	1	3	4	0	2	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:109028054T>C	ENST00000478945.1	-	4	551	c.305A>G	c.(304-306)gAc>gGc	p.D102G		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	102	SAP.					nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGACACCAGTCCCGCAAAGT	0.443													13	529					0	0	0	0	C	109028054	T	C	109028054	3	2	72	1	0	0	0	0	1	0	0	0	4770	1667	58	5	611	5	DPPA2	3	109028054	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	302132	109028054	88994376	55	13695											
ARHGAP31	57514	broad.mit.edu	37	chr3	119135065	119135065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttttaccagcctcagcGgagatcagtaattctggatg	9	13	10	9	1	3	1	2	0	1	1	3	3	3	2	2	2	3	2	2	2	2	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:119135065G>A	ENST00000264245.4	+	12	4821	c.4289G>A	c.(4288-4290)cGg>cAg	p.R1430Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1430					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CAGCCTCAGCGGAGATCAGTA	0.448													9	107					0	0	0	0	A	119135065	G	A	119135065	3	1	72	1	0	0	0	0	1	0	0	0	882	1116	39	1	4335	1	ARHGAP31	3	119135065	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	10107011	119135065	78887365	56	13696											
PARP14	54625	broad.mit.edu	37	chr3	122437687	122437688	+	Frame_Shift_Ins	INS	-	-	A																															aggatgcaaggagagaaaagINSaaaaaaacagttgatgtcaa																										TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:122437687_122437688insA	ENST00000474629.2	+	14	4955_4956	c.4689_4690insA	c.(4687-4692)aaaaaafs	p.KK1563fs	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1563	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGAGAGAAAAGAAAAAAACAGT	0.366													27	164	---	---	---	---					A	122437688	-	A	122437687	7	5	72	1	0	1	1	0	0	0	0	0	11529	933	33	0	4743	0	PARP14	3	122437687	Frame_Shift_Ins	INS	-	TCGA-CN-4739-01A-02D-1512-08	3302622	122437687	75584743	57	13697											
MCM2	4171	broad.mit.edu	37	chr3	127337882	127337882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatcttaggacgagatgctgGcccgcttcgtggtgggcagc	6	10	15	10	3	1	1	0	0	1	1	2	3	1	2	1	4	2	3	1	4	2	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:127337882G>A	ENST00000265056.7	+	13	2270	c.2026G>A	c.(2026-2028)Gcc>Acc	p.A676T	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	676	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CGAGATGCTGGCCCGCTTCGT	0.632													7	16					0	0	0	0	A	127337882	G	A	127337882	3	1	72	1	0	0	0	0	1	0	0	0	9455	1203	42	4	2076	4	MCM2	3	127337882	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	4900195	127337882	70684548	58	13698											
COL6A5	256076	broad.mit.edu	37	chr3	130095187	130095187	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaacaaaatgatcaacAgtctccccatagaggccaac	16	7	5	13	0	4	2	3	1	1	1	5	2	4	2	3	1	3	0	3	1	6	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:130095187A>T	ENST00000265379.6	+	3	669	c.175A>T	c.(175-177)Agt>Tgt	p.S59C	COL6A5_ENST00000432398.2_Missense_Mutation_p.S59C			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	59	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AATGATCAACAGTCTCCCCAT	0.502													31	59					0	0	0	0	T	130095187	A	T	130095187	3	4	72	1	0	0	0	0	1	0	0	0	3732	188	7	5	181	5	COL6A5	3	130095187	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	2757305	130095187	67927243	59	13699											
IFT80	57560	broad.mit.edu	37	chr3	160095273	160095273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaagtactgctccacaGtgagcttctacacttttttc	8	14	6	13	0	1	1	0	1	1	0	3	1	2	1	2	0	5	4	2	0	3	6	rs137853115		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:160095273G>A	ENST00000326448.7	-	4	747	c.315C>T	c.(313-315)caC>caT	p.H105H	IFT80_ENST00000477495.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	105			H -> Q (in ATD2).			cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTGCTCCACAGTGAGCTTCTA	0.303													81	166					0	0	0	0	A	160095273	G	A	160095273	2	1	72	1	0	0	0	0	0	0	0	1	7617	1020	36	4		4	IFT80	3	160095273	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	30000086	160095273	37927157	60	13700											
SI	6476	broad.mit.edu	37	chr3	164700056	164700056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtagtgtcttcattaaaaGgaagcgaatttttatttccg	11	16	9	5	2	2	0	1	0	1	0	3	2	3	1	1	2	1	1	1	2	6	7			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:164700056G>A	ENST00000264382.3	-	47	5452	c.5390C>T	c.(5389-5391)cCt>cTt	p.P1797L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1797	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTCATTAAAAGGAAGCGAATT	0.358										HNSCC(35;0.089)			33	89					0	0	0	0	A	164700056	G	A	164700056	3	1	72	1	0	0	0	0	1	0	0	0	14385	1000	35	4	101	4	SI	3	164700056	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	4604783	164700056	33322374	61	13701											
PIK3CA	5290	broad.mit.edu	37	chr3	178922319	178922319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcgaacaggtatctaccatgGaggagaacccttatgtgaca	13	9	10	9	1	1	2	0	1	1	1	2	5	1	3	2	3	3	1	2	3	5	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:178922319G>C	ENST00000263967.3	+	6	1245	c.1088G>C	c.(1087-1089)gGa>gCa	p.G363A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	363	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCTACCATGGAGGAGAACCC	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			52	177					0	0	0	0	C	178922319	G	C	178922319	3	2	72	1	0	0	0	0	1	0	0	0	11985	1174	41	2	1106	2	PIK3CA	3	178922319	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	14222263	178922319	19100111	62	13702											
SLIT2	9353	broad.mit.edu	37	chr4	20618727	20618727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgcccatggcacatgccagCccagcagccaggcaggcttc	8	5	12	16	0	0	0	0	0	0	0	1	0	0	0	4	3	5	4	4	3	0	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:20618727C>A	ENST00000504154.1	+	35	4294	c.4042C>A	c.(4042-4044)Ccc>Acc	p.P1348T	SLIT2_ENST00000503837.1_Missense_Mutation_p.P1344T|SLIT2_ENST00000503823.1_Missense_Mutation_p.P1340T|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1361T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1348	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CACATGCCAGCCCAGCAGCCA	0.577													11	34					3.86212e-05	4.18285e-05	1	0	A	20618727	C	A	20618727	3	1	72	1	0	0	0	0	1	0	0	0	14828	739	26	4	4180	4	SLIT2	4	20618727	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08		20618727	170535549	63	13703											
MMRN1	22915	broad.mit.edu	37	chr4	90857472	90857472	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccttattatatttcagttAaaaaaggcagtgtagttaca	15	15	6	5	0	1	0	1	0	0	0	1	0	1	0	1	1	2	4	1	1	9	8			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:90857472A>T	ENST00000394980.1	+	7	2960	c.2641A>T	c.(2641-2643)Aaa>Taa	p.K881*	MMRN1_ENST00000508372.1_Nonsense_Mutation_p.K623*|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.K881*|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	881					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TATTTCAGTTAAAAAAGGCAG	0.358													8	65					0	0	0	0	T	90857472	A	T	90857472	4	4	72	1	0	0	0	0	0	1	0	0	9740	363	13	5	2663	5	MMRN1	4	90857472	Nonsense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	70238745	90857472	100296804	64	13704											
SMARCAD1	56916	broad.mit.edu	37	chr4	95197554	95197554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacggctgaaacttaattacGcaatttttgatgagggccat	12	12	10	7	2	0	3	0	3	0	0	0	4	0	3	1	2	2	2	1	2	4	4	rs150935622		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:95197554G>C	ENST00000354268.4	+	15	1946	c.1873G>C	c.(1873-1875)Gca>Cca	p.A625P	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.A195P|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.A625P			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	625	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ACTTAATTACGCAATTTTTGA	0.383													21	79					0	0	0	0	C	95197554	G	C	95197554	3	2	72	1	0	0	0	0	1	0	0	0	14860	1087	38	3	1927	3	SMARCAD1	4	95197554	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	4340082	95197554	95956722	65	13705											
MAB21L2	10586	broad.mit.edu	37	chr4	151504465	151504465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtggacgacggctcgctgcCcggctgcgcagtgctcaaac	6	6	14	15	6	1	0	1	0	0	0	2	2	1	1	1	3	4	5	1	3	1	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:151504465C>A	ENST00000317605.4	+	1	1389	c.284C>A	c.(283-285)cCc>cAc	p.P95H	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	95					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GGCTCGCTGCCCGGCTGCGCA	0.602													11	91					1.08611e-07	1.2407e-07	1	0	A	151504465	C	A	151504465	3	1	72	1	0	0	0	0	1	0	0	0	9207	623	22	4	286	4	MAB21L2	4	151504465	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	56306911	151504465	39649811	66	13706											
DDX60	55601	broad.mit.edu	37	chr4	169157507	169157507	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcttttccataacgtcttGagaaaaatgttttgagccta	12	15	7	7	1	1	2	0	2	1	1	2	3	2	2	2	0	3	2	2	0	5	8			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:169157507G>C	ENST00000393743.3	-	33	4720	c.4429C>G	c.(4429-4431)Caa>Gaa	p.Q1477E		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1477							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATAACGTCTTGAGAAAAATGT	0.303													12	90					0	0	0	0	C	169157507	G	C	169157507	3	2	72	1	0	0	0	0	1	0	0	0	4410	1299	45	2	733	2	DDX60	4	169157507	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	17653042	169157507	21996769	67	13707											
CLPTM1L	81037	broad.mit.edu	37	chr5	1330403	1330403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaactcacctcaatggCggctccaacacccgccggga	9	4	10	18	4	2	0	2	0	0	0	3	2	3	2	5	4	2	1	5	4	3	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:1330403C>T	ENST00000320895.5	-	9	1329	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	CLPTM1L_ENST00000507807.1_Intron|CLPTM1L_ENST00000320927.6_Intron	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	358					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACCTCAATGGCGGCTCCAACA	0.622													56	71					0	0	0	0	T	1330403	C	T	1330403	3	4	72	1	0	0	0	0	1	0	0	0	3585	768	27	1	580	1	CLPTM1L	5	1330403	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08		1330403	179584857	68	13708											
CDH10	1008	broad.mit.edu	37	chr5	24488015	24488015	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgaaatcccggacgtcCgtgttatctggagctgtagg	9	12	12	8	3	1	1	0	1	1	0	3	3	3	3	2	3	1	3	2	3	4	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:24488015C>A	ENST00000264463.4	-	12	2631	c.2124G>T	c.(2122-2124)acG>acT	p.T708T	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	708					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCCGGACGTCCGTGTTATCTG	0.473										HNSCC(23;0.051)			41	160					1.59361e-14	1.98725e-14	1	0	A	24488015	C	A	24488015	2	1	72	1	0	0	0	0	0	0	0	1	3125	639	23	3		3	CDH10	5	24488015	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	23157612	24488015	156427245	69	13709											
PDZD2	23037	broad.mit.edu	37	chr5	31983676	31983676	+	Missense_Mutation	SNP	G	G	A																															agcatagaattccaaagacaGatgctcctctgaccacaagc																										TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:31983676G>A	ENST00000438447.1	+	3	1280	c.892G>A	c.(892-894)Gat>Aat	p.D298N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D298N			O15018	PDZD2_HUMAN	PDZ domain containing 2	298					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCAAAGACAGATGCTCCTCT	0.512													36	186					0	0	0	0	A	31983676	G	A	31983676	3	1	72	1	0	0	0	0	1	0	0	0	11772	942	33	2	898	2	PDZD2	5	31983676	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	7495661	31983676	148931584	70	13710	122	2									
PDZD2	23037	broad.mit.edu	37	chr5	31983677	31983677	+	Missense_Mutation	SNP	A	A	C																															gcatagaattccaaagacagAtgctcctctgaccacaagca																										TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:31983677A>C	ENST00000438447.1	+	3	1281	c.893A>C	c.(892-894)gAt>gCt	p.D298A	PDZD2_ENST00000282493.3_Missense_Mutation_p.D298A			O15018	PDZD2_HUMAN	PDZ domain containing 2	298					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCAAAGACAGATGCTCCTCTG	0.517													37	188					0	0	0	0	C	31983677	A	C	31983677	3	2	72	1	0	0	0	0	1	0	0	0	11772	333	12	5	899	5	PDZD2	5	31983677	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	1	31983677	148931583	71	13711	122	2									
LIFR	3977	broad.mit.edu	37	chr5	38484967	38484967	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggcaataattaatcccAcagctgaaacgagagtattg	16	9	9	7	1	0	2	0	1	0	1	1	4	1	2	1	1	2	3	1	1	6	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:38484967A>T	ENST00000263409.4	-	18	2663	c.2501T>A	c.(2500-2502)gTg>gAg	p.V834E	LIFR_ENST00000453190.2_Missense_Mutation_p.V834E	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	834					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AATTAATCCCACAGCTGAAAC	0.368			T	PLAG1	salivary adenoma								24	18					0	0	0	0	T	38484967	A	T	38484967	3	4	72	1	0	0	0	0	1	0	0	0	8834	159	6	5	804	5	LIFR	5	38484967	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	6501290	38484967	142430293	72	13712											
C9	735	broad.mit.edu	37	chr5	39341764	39341764	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcggtgcatcttttcccAttaaattgtccaaagacctc	9	13	7	12	2	1	1	0	0	1	1	5	1	3	1	3	1	1	1	3	1	3	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:39341764A>G	ENST00000263408.4	-	3	317	c.222T>C	c.(220-222)aaT>aaC	p.N74N	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	74	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATCTTTTCCCATTAAATTGTC	0.443													32	60					0	0	0	0	G	39341764	A	G	39341764	2	3	72	1	0	0	0	0	0	0	0	1	2468	214	8	5		5	C9	5	39341764	Silent	SNP	A	TCGA-CN-4739-01A-02D-1512-08	856797	39341764	141573496	73	13713											
SLCO6A1	133482	broad.mit.edu	37	chr5	101795457	101795457	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaagtccatagccattcTggactaccattattgactgt	11	12	6	12	0	1	1	0	1	1	0	2	2	2	2	4	1	2	0	4	1	4	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:101795457T>C	ENST00000506729.1	-	5	1095	c.924A>G	c.(922-924)ccA>ccG	p.P308P	SLCO6A1_ENST00000379807.3_Silent_p.P308P|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Silent_p.P246P|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	308						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATAGCCATTCTGGACTACCAT	0.353													42	93					0	0	0	0	C	101795457	T	C	101795457	2	2	72	1	0	0	0	0	0	0	0	1	14820	1567	55	5		5	SLCO6A1	5	101795457	Silent	SNP	T	TCGA-CN-4739-01A-02D-1512-08	62453693	101795457	79119803	74	13714											
ADAMTS19	171019	broad.mit.edu	37	chr5	129072905	129072905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccaaaagctgcagcagaaGagttgacctctagcaggctg	12	6	12	11	0	1	3	0	1	1	2	1	3	1	3	2	1	4	6	2	1	4	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:129072905G>C	ENST00000274487.4	+	23	3763	c.3618G>C	c.(3616-3618)aaG>aaC	p.K1206N	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1206					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCAGCAGAAGAGTTGACCTC	0.448													14	18					0	0	0	0	C	129072905	G	C	129072905	3	2	72	1	0	0	0	0	1	0	0	0	264	933	33	2	3708	2	ADAMTS19	5	129072905	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	27277448	129072905	51842355	75	13715											
PCDHB5	26167	broad.mit.edu	37	chr5	140515572	140515572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttgctacgcataatcgcGgagatggcagaaaataccca	14	8	10	9	3	0	2	0	0	0	2	1	3	0	2	1	2	3	4	1	2	5	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:140515572G>A	ENST00000231134.5	+	1	773	c.556G>A	c.(556-558)Gga>Aga	p.G186R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		186	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCATAATCGCGGAGATGGCAG	0.517													23	66					0	0	0	0	A	140515572	G	A	140515572	3	1	72	1	0	0	0	0	1	0	0	0	11616	1117	39	1	558	1	PCDHB5	5	140515572	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	11442667	140515572	40399688	76	13716											
PPP2R2B	5521	broad.mit.edu	37	chr5	145979965	145979965	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacttcacatccgaaatCgaagagataatttcagagaa	17	9	7	8	2	2	3	2	1	0	2	4	7	3	3	1	0	1	0	1	0	5	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:145979965C>A	ENST00000394413.3	-	7	1419	c.849G>T	c.(847-849)tcG>tcT	p.S283S	PPP2R2B_ENST00000394410.2_Silent_p.S272S|PPP2R2B_ENST00000394414.1_Silent_p.S349S|PPP2R2B_ENST00000336640.6_Silent_p.S286S|PPP2R2B_ENST00000453001.1_Silent_p.S283S|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394409.3_Silent_p.S341S|PPP2R2B_ENST00000508545.2_Silent_p.S272S|PPP2R2B_ENST00000356826.3_Silent_p.S283S|PPP2R2B_ENST00000504198.1_Silent_p.S289S|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Silent_p.S283S			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	283					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCCGAAATCGAAGAGATAA	0.428													42	69					3.4345e-17	4.35222e-17	1	0	A	145979965	C	A	145979965	2	1	72	1	0	0	0	0	0	0	0	1	12461	871	31	3		3	PPP2R2B	5	145979965	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	5464393	145979965	34935295	77	13717											
NSD1	64324	broad.mit.edu	37	chr5	176687152	176687152	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgttaatgttagctggtGctttgtgtgctcagaaggta	8	15	13	5	0	1	1	1	0	0	1	1	1	1	1	0	2	3	7	0	2	4	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:176687152G>C	ENST00000439151.2	+	14	5174	c.5129G>C	c.(5128-5130)tGc>tCc	p.C1710S	NSD1_ENST00000361032.4_Missense_Mutation_p.C1607S|NSD1_ENST00000354179.4_Missense_Mutation_p.C1441S|NSD1_ENST00000347982.4_Missense_Mutation_p.C1441S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1710					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTTAGCTGGTGCTTTGTGTGC	0.383			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			15	31					0	0	0	0	C	176687152	G	C	176687152	3	2	72	1	0	0	0	0	1	0	0	0	10740	1319	46	4	5179	4	NSD1	5	176687152	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	30707187	176687152	4228108	78	13718											
JARID2	3720	broad.mit.edu	37	chr6	15512521	15512521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttgtcgtctgcttccCgggatcctttgtgtccaaag	5	14	10	12	2	1	0	0	0	1	0	5	1	4	1	4	1	1	2	4	1	1	3	rs145282448		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:15512521C>T	ENST00000341776.2	+	14	3279	c.3035C>T	c.(3034-3036)cCg>cTg	p.P1012L	JARID2_ENST00000397311.3_Missense_Mutation_p.P840L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1012	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GTCTGCTTCCCGGGATCCTTT	0.582													6	133					0	0	0	0	T	15512521	C	T	15512521	3	4	72	1	0	0	0	0	1	0	0	0	7998	652	23	1	3089	1	JARID2	6	15512521	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08		15512521	155602546	79	13719											
KIAA0319	9856	broad.mit.edu	37	chr6	24596542	24596542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggggagcccctgttcagCatcatgtccccatagtccag	8	8	12	13	0	2	0	2	0	0	0	4	2	4	1	5	2	2	2	5	2	1	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:24596542C>G	ENST00000535378.1	-	4	975	c.333G>C	c.(331-333)atG>atC	p.M111I	KIAA0319_ENST00000430948.2_Missense_Mutation_p.M75I|KIAA0319_ENST00000378214.3_Missense_Mutation_p.M120I|KIAA0319_ENST00000543707.1_Missense_Mutation_p.M120I|KIAA0319_ENST00000537886.1_Missense_Mutation_p.M120I	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	120					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCCTGTTCAGCATCATGTCCC	0.557													71	74					0	0	0	0	G	24596542	C	G	24596542	3	3	72	1	0	0	0	0	1	0	0	0	8219	710	25	4	2934	4	KIAA0319	6	24596542	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	9084021	24596542	146518525	80	13720											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056327	26056327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttccccggaggctgcCttcttgttgagtttaaagga	6	14	12	9	1	1	1	0	1	1	0	2	3	2	3	3	4	1	4	3	4	2	7			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:26056327C>A	ENST00000343677.2	-	1	372	c.330G>T	c.(328-330)aaG>aaT	p.K110N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	110					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGGAGGCTGCCTTCTTGTTGA	0.567													9	200					1.12685e-05	1.2463e-05	1	0	A	26056327	C	A	26056327	3	1	72	1	0	0	0	0	1	0	0	0	7174	680	24	4	315	4	HIST1H1C	6	26056327	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	1459785	26056327	145058740	81	13721											
HIST1H2BN	8341	broad.mit.edu	37	chr6	27806588	27806588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggtgctgaagcaggtccAccccgacaccggtatctcgt	9	7	11	14	3	1	1	0	1	1	0	3	2	2	1	4	3	2	3	4	3	3	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:27806588A>G	ENST00000606613.1	+	1	210	c.149A>G	c.(148-150)cAc>cGc	p.H50R	HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.H50R			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	50					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AAGCAGGTCCACCCCGACACC	0.597													89	305					0	0	0	0	G	27806588	A	G	27806588	3	3	72	1	0	0	0	0	1	0	0	0	7203	159	6	5	151	5	HIST1H2BN	6	27806588	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	1750261	27806588	143308479	82	13722											
KIF6	221458	broad.mit.edu	37	chr6	39602685	39602685	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagatcataaccacattcaTtgtagatttccaaataggaa	18	11	5	7	0	2	2	2	0	0	2	3	3	3	3	2	1	1	1	2	1	6	6			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:39602685T>C	ENST00000287152.7	-	5	543	c.449A>G	c.(448-450)aAt>aGt	p.N150S	KIF6_ENST00000373215.3_Missense_Mutation_p.N150S|KIF6_ENST00000373216.3_Missense_Mutation_p.N150S|KIF6_ENST00000538893.1_Missense_Mutation_p.N150S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	150	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACCACATTCATTGTAGATTTC	0.363													45	128					0	0	0	0	C	39602685	T	C	39602685	3	2	72	1	0	0	0	0	1	0	0	0	8359	1493	52	5	2071	5	KIF6	6	39602685	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	11796097	39602685	131512382	83	13723											
MEP1A	4224	broad.mit.edu	37	chr6	46806851	46806851	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctccatcatcgccatccTttcccaaaggccaaggaagt	10	10	6	15	1	2	0	1	0	1	0	6	1	4	1	5	2	0	0	5	2	3	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:46806851T>C	ENST00000230588.4	+	14	2228	c.2219T>C	c.(2218-2220)cTt>cCt	p.L740P		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	740					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ATCGCCATCCTTTCCCAAAGG	0.587													41	107					0	0	0	0	C	46806851	T	C	46806851	3	2	72	1	0	0	0	0	1	0	0	0	9544	1609	56	5	2273	5	MEP1A	6	46806851	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	7204166	46806851	124308216	84	13724											
MTO1	25821	broad.mit.edu	37	chr6	74191953	74191953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgataatgctgacagccGgctcacactgcgaggtaact	10	8	10	13	2	1	2	1	2	0	0	1	3	1	2	2	2	4	3	2	2	2	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:74191953G>T	ENST00000498286.1	+	8	1728	c.1451G>T	c.(1450-1452)cGg>cTg	p.R484L	MTO1_ENST00000370300.4_Missense_Mutation_p.R509L|MTO1_ENST00000415954.2_Missense_Mutation_p.R524L|MTO1_ENST00000370305.1_Missense_Mutation_p.R435L			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	509					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GCTGACAGCCGGCTCACACTG	0.522													18	64					1.45105e-14	1.81672e-14	1	0	T	74191953	G	T	74191953	3	4	72	1	0	0	0	0	1	0	0	0	10023	1116	39	3	1684	3	MTO1	6	74191953	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	27385102	74191953	96923114	85	13725											
HACE1	57531	broad.mit.edu	37	chr6	105243517	105243517	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttagaatctttaggtacTggctttcactttgctgagac	8	17	9	7	0	2	2	1	1	1	2	2	3	2	2	0	2	2	4	0	2	4	7			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:105243517T>C	ENST00000262903.4	-	10	1136	c.860A>G	c.(859-861)cAg>cGg	p.Q287R	HACE1_ENST00000369125.2_Missense_Mutation_p.Q287R	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	287					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTTTAGGTACTGGCTTTCACT	0.338													22	102					0	0	0	0	C	105243517	T	C	105243517	3	2	72	1	0	0	0	0	1	0	0	0	6990	1580	55	5	1929	5	HACE1	6	105243517	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	31051564	105243517	65871550	86	13726											
VNN1	8876	broad.mit.edu	37	chr6	133014422	133014422	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaggctccttgggtacAttgaattgattttcacccat	9	15	7	10	0	2	2	2	2	1	0	4	2	3	2	2	2	1	2	2	2	2	6	rs141622053	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:133014422A>T	ENST00000367928.4	-	4	580	c.567T>A	c.(565-567)aaT>aaA	p.N189K		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	189	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCTTGGGTACATTGAATTGAT	0.373													17	74					0	0	0	0	T	133014422	A	T	133014422	3	4	72	1	0	0	0	0	1	0	0	0	17278	214	8	5	990	5	VNN1	6	133014422	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	27770905	133014422	38100645	87	13727											
LFNG	3955	broad.mit.edu	37	chr7	2559807	2559807	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgccgacggccacccgcgCcccctggccgagccgctcgc	3	2	12	24	8	0	0	0	0	0	0	1	2	0	0	8	2	1	1	8	2	0	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:2559807C>T	ENST00000222725.5	+	1	332	c.312C>T	c.(310-312)cgC>cgT	p.R104R	LFNG_ENST00000402045.1_Intron|LFNG_ENST00000402506.1_Intron|LFNG_ENST00000359574.3_Silent_p.R104R|LFNG_ENST00000338732.3_Intron	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	104				R -> A (in Ref. 3; AAF07187).	organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		gccacccgcgccccctggccg	0.726													7	7					0	0	0	0	T	2559807	C	T	2559807	2	4	72	1	0	0	0	0	0	0	0	1	8790	726	26	4		4	LFNG	7	2559807	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08		2559807	156578856	88	13728											
NPSR1	387129	broad.mit.edu	37	chr7	34724268	34724268	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaagtcaagaatgacCttctttgtgactcagctggc	13	10	10	8	0	3	5	2	2	1	3	3	5	3	5	1	1	1	1	1	1	5	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:34724268C>T	ENST00000360581.1	+	2	380	c.252C>T	c.(250-252)acC>acT	p.T84T	NPSR1_ENST00000359791.1_Silent_p.T84T|NPSR1_ENST00000465305.1_Silent_p.T84T|NPSR1_ENST00000381553.3_Silent_p.T84T|NPSR1_ENST00000381539.3_Silent_p.T84T|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000531252.1_Silent_p.T84T|NPSR1_ENST00000381542.1_Silent_p.T84T	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	84						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAAGAATGACCTTCTTTGTGA	0.418													38	125					0	0	0	0	T	34724268	C	T	34724268	2	4	72	1	0	0	0	0	0	0	0	1	10671	668	24	4		4	NPSR1	7	34724268	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	32164461	34724268	124414395	89	13729											
ELMO1	9844	broad.mit.edu	37	chr7	37298793	37298793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagacgcttactcagtgcCgctctccaccatctgcgtga	10	9	8	14	3	3	2	1	1	2	1	4	2	3	2	3	0	3	2	3	0	3	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:37298793C>A	ENST00000310758.4	-	6	1053	c.406G>T	c.(406-408)Ggc>Tgc	p.G136C	ELMO1_ENST00000448602.1_Missense_Mutation_p.G136C|ELMO1_ENST00000442504.1_Missense_Mutation_p.G136C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	136					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TACTCAGTGCCGCTCTCCACC	0.502													12	33					0.000978159	0.0010274	1	0	A	37298793	C	A	37298793	3	1	72	1	0	0	0	0	1	0	0	0	5103	652	23	3	1845	3	ELMO1	7	37298793	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	2574525	37298793	121839870	90	13730											
GPR141	353345	broad.mit.edu	37	chr7	37780085	37780085	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcatagtgcttattggCgggctggtgggtgtcatttc	5	16	13	7	1	2	0	2	0	0	0	3	0	2	0	0	4	2	2	0	4	3	6			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:37780085C>T	ENST00000447769.1	+	4	379	c.90C>T	c.(88-90)ggC>ggT	p.G30G	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Silent_p.G30G			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	30						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G30G(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCTTATTGGCGGGCTGGTGG	0.507													54	142					0	0	0	0	T	37780085	C	T	37780085	2	4	72	1	0	0	0	0	0	0	0	1	6698	755	27	1		1	GPR141	7	37780085	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	481292	37780085	121358578	91	13731											
ABCA13	154664	broad.mit.edu	37	chr7	48390265	48390265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctggatgagatgtttaaCcatgcaggcgctggacgctt	8	11	13	9	2	0	1	0	1	0	1	0	4	0	3	1	3	3	5	1	3	1	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:48390265C>A	ENST00000435803.1	+	30	10254	c.10230C>A	c.(10228-10230)aaC>aaA	p.N3410K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3410					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						AGATGTTTAACCATGCAGGCG	0.512													47	217					6.08268e-21	7.86727e-21	1	0	A	48390265	C	A	48390265	3	1	72	1	0	0	0	0	1	0	0	0	31	506	18	4	10177	4	ABCA13	7	48390265	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	10610180	48390265	110748398	92	13732											
NSUN5	55695	broad.mit.edu	37	chr7	72722501	72722501	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgatcacagcatccagcacgGcggagtagcgctgcgtttcg	8	7	13	13	6	1	0	1	0	0	0	3	2	2	1	1	2	4	5	1	2	1	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:72722501G>C	ENST00000428206.1	-	2	156	c.143C>G	c.(142-144)gCc>gGc	p.A48G	NSUN5_ENST00000252594.6_Missense_Mutation_p.A48G|NSUN5_ENST00000438747.2_Missense_Mutation_p.A48G|NSUN5_ENST00000310326.8_Missense_Mutation_p.A48G	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	48							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				ATCCAGCACGGCGGAGTAGCG	0.687													23	78					0	0	0	0	C	72722501	G	C	72722501	3	2	72	1	0	0	0	0	1	0	0	0	10752	1203	42	4	1314	4	NSUN5	7	72722501	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	24332236	72722501	86416162	93	13733											
CDK14	5218	broad.mit.edu	37	chr7	90419941	90419941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggctgcaggaagaagaagGgacacctttcacagctatca	14	6	11	10	0	2	2	2	0	0	2	2	4	2	4	1	3	2	3	1	3	4	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:90419941G>T	ENST00000406263.1	+	4	822	c.380G>T	c.(379-381)gGg>gTg	p.G127V	CDK14_ENST00000265741.3_Missense_Mutation_p.G155V|CDK14_ENST00000436577.2_Missense_Mutation_p.G44V|CDK14_ENST00000380050.3_Missense_Mutation_p.G173V			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	173					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GAAGAAGAAGGGACACCTTTC	0.403													21	87					1.9806e-07	2.24611e-07	1	0	T	90419941	G	T	90419941	3	4	72	1	0	0	0	0	1	0	0	0	3159	1232	43	4	478	4	CDK14	7	90419941	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	17697440	90419941	68718722	94	13734											
AKAP9	10142	broad.mit.edu	37	chr7	91709455	91709455	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaagccctcaagatgttGaagttctcaaggttagtttt	13	13	9	6	0	2	3	2	1	1	2	3	3	2	3	1	1	1	4	1	1	6	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:91709455G>C	ENST00000359028.2	+	32	8269	c.8044G>C	c.(8044-8046)Gaa>Caa	p.E2682Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E2682Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E2670Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2682	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCAAGATGTTGAAGTTCTCAA	0.323			T	BRAF	papillary thyroid								8	32					0	0	0	0	C	91709455	G	C	91709455	3	2	72	1	0	0	0	0	1	0	0	0	459	1291	45	2	8130	2	AKAP9	7	91709455	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	1289514	91709455	67429208	95	13735											
PDK4	5166	broad.mit.edu	37	chr7	95222138	95222138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgatccaagaaatattgaaGattttgattggtgactgggt	12	14	11	4	1	0	5	0	3	0	2	2	6	1	5	1	2	0	0	1	2	4	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:95222138G>A	ENST00000005178.5	-	4	660	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	155	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			AAATATTGAAGATTTTGATTG	0.383													41	146					0	0	0	0	A	95222138	G	A	95222138	3	1	72	1	0	0	0	0	1	0	0	0	11749	942	33	2	804	2	PDK4	7	95222138	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	3512683	95222138	63916525	96	13736											
GAL3ST4	79690	broad.mit.edu	37	chr7	99764268	99764268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcagggagggcgaagcGcagcccgtgctggtccccat	6	4	18	13	4	0	0	0	0	0	0	1	2	1	1	3	4	3	3	3	4	1	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:99764268G>A	ENST00000360039.4	-	3	678	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	GAL3ST4_ENST00000423751.1_Intron|GAL3ST4_ENST00000426974.2_Intron|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000411994.1_Intron|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R96C	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	96					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGGCGAAGCGCAGCCCGTGC	0.637													27	196					0	0	0	0	A	99764268	G	A	99764268	3	1	72	1	0	0	0	0	1	0	0	0	6249	1087	38	1	1182	1	GAL3ST4	7	99764268	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	4542130	99764268	59374395	97	13737											
THAP5	168451	broad.mit.edu	37	chr7	108205353	108205353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acatgttattttgtatacttCctgttttgggagctggtggc	6	18	11	6	0	0	0	0	0	0	0	1	1	1	1	1	3	2	4	1	3	3	8			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:108205353C>T	ENST00000415914.3	-	3	623	c.470G>A	c.(469-471)gGa>gAa	p.G157E	THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000313516.5_Missense_Mutation_p.G115E	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	157					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TTGTATACTTCCTGTTTTGGG	0.358													7	25					0	0	0	0	T	108205353	C	T	108205353	3	4	72	1	0	0	0	0	1	0	0	0	15941	855	30	2	721	2	THAP5	7	108205353	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	8441085	108205353	50933310	98	13738											
GRM8	2918	broad.mit.edu	37	chr7	126173263	126173263	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtgtccgctgctctccatAgtcaatgatgatgtgggggg	7	12	14	8	1	2	2	1	2	1	0	4	2	3	2	2	3	1	2	2	3	3	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:126173263A>T	ENST00000339582.2	-	9	2981	c.2173T>A	c.(2173-2175)Tat>Aat	p.Y725N	GRM8_ENST00000444921.2_Missense_Mutation_p.Y725N|GRM8_ENST00000358373.3_Missense_Mutation_p.Y725N|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	725					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGCTCTCCATAGTCAATGATG	0.502										HNSCC(24;0.065)			20	45					0	0	0	0	T	126173263	A	T	126173263	3	4	72	1	0	0	0	0	1	0	0	0	6853	420	15	5	615	5	GRM8	7	126173263	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	17967910	126173263	32965400	99	13739											
ADCK2	90956	broad.mit.edu	37	chr7	140380909	140380909	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaaaggaagattgcacGgctggggatcaacatgctcc	12	8	12	9	1	1	2	1	1	0	1	2	4	2	4	1	4	3	3	1	4	4	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:140380909G>C	ENST00000072869.4	+	4	1455	c.1277G>C	c.(1276-1278)cGg>cCg	p.R426P	ADCK2_ENST00000476491.1_Missense_Mutation_p.R426P	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	426	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AAGATTGCACGGCTGGGGATC	0.562													18	49					0	0	0	0	C	140380909	G	C	140380909	3	2	72	1	0	0	0	0	1	0	0	0	289	1116	39	3	1291	3	ADCK2	7	140380909	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	14207646	140380909	18757754	100	13740											
CSMD1	64478	broad.mit.edu	37	chr8	3059159	3059159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagaccccgagagtgagctGagaagtctggcctgtgcatg	9	8	15	9	1	1	4	0	3	1	3	1	7	1	4	3	1	2	2	3	1	1	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:3059159G>A	ENST00000602557.1	-	33	5631	c.5076C>T	c.(5074-5076)ctC>ctT	p.L1692L	CSMD1_ENST00000542608.1_Silent_p.L1691L|CSMD1_ENST00000539096.1_Silent_p.L1691L|CSMD1_ENST00000537824.1_Silent_p.L1691L|CSMD1_ENST00000400186.3_Silent_p.L1692L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.L1692L|CSMD1_ENST00000520002.1_Silent_p.L1692L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1692	CUB 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGAGTGAGCTGAGAAGTCTGG	0.408													3	19					0	0	0	0	A	3059159	G	A	3059159	2	1	72	1	0	0	0	0	0	0	0	1	3976	1277	45	2		2	CSMD1	8	3059159	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08		3059159	143304863	101	13741											
RP1L1	94137	broad.mit.edu	37	chr8	10468035	10468035	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggatgtgggcgtgaagttCtccgtcatggcatgggaccc	7	9	16	9	2	2	1	1	1	1	0	3	4	2	3	2	4	0	2	2	4	1	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:10468035C>G	ENST00000382483.3	-	4	3796	c.3573G>C	c.(3571-3573)gaG>gaC	p.E1191D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1191					intracellular signal transduction					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)		GCGTGAAGTTCTCCGTCATGG	0.627													24	36					0	0	0	0	G	10468035	C	G	10468035	3	3	72	1	0	0	0	0	1	0	0	0	13618	912	32	2	3633	2	RP1L1	8	10468035	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	7408876	10468035	135895987	102	13742											
WRN	7486	broad.mit.edu	37	chr8	30949360	30949360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatagaatgtccaacatccCagcttgcttccttggatcag	10	13	7	11	0	1	1	1	0	0	1	4	2	4	2	3	1	3	2	3	1	4	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:30949360C>T	ENST00000298139.5	+	16	2093	c.1844C>T	c.(1843-1845)cCa>cTa	p.P615L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	615	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TCCAACATCCCAGCTTGCTTC	0.323			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				15	104					0	0	0	0	T	30949360	C	T	30949360	3	4	72	1	0	0	0	0	1	0	0	0	17498	594	21	4	1902	4	WRN	8	30949360	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	20481325	30949360	115414662	103	13743											
EIF4EBP1	1978	broad.mit.edu	37	chr8	37914778	37914778	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaagataagcgggcgggcGgtgagtgtcggggcttggcc	7	6	20	8	4	0	3	0	1	0	2	1	3	0	3	1	6	1	1	1	6	2	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:37914778G>T	ENST00000338825.4	+	2	558	c.325_splice	c.e2+1	p.G109_splice	EIF4EBP1_ENST00000520657.1_3'UTR	NM_004095.3	NP_004086.1	Q13541	4EBP1_HUMAN	eukaryotic translation initiation factor 4E binding protein 1	109					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation	cytosol				endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				GCGGGCGGGCGGTGAGTGTCG	0.622													25	106					2.79863e-10	3.3434e-10	1	0	T	37914778	G	T	37914778	5	4	72	1	0	0	0	0	0	0	1	0	5070	1130	39	3	331	3	EIF4EBP1	8	37914778	Splice_Site	SNP	G	TCGA-CN-4739-01A-02D-1512-08	6965418	37914778	108449244	104	13744											
ANK1	286	broad.mit.edu	37	chr8	41530294	41530294	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagacatctccagcatggtGtcatgctccgtggccgccaa	8	9	10	14	2	3	1	2	0	1	1	5	1	4	1	4	2	2	2	4	2	1	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:41530294G>A	ENST00000396942.1	-	38	4757	c.4674C>T	c.(4672-4674)gaC>gaT	p.D1558D	ANK1_ENST00000396945.1_Silent_p.D1558D|ANK1_ENST00000379758.2_Silent_p.D1558D|ANK1_ENST00000347528.4_Silent_p.D1558D|ANK1_ENST00000352337.4_Silent_p.D1558D|ANK1_ENST00000289734.7_Silent_p.D1558D|ANK1_ENST00000265709.8_Silent_p.D1599D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1558	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCAGCATGGTGTCATGCTCCG	0.612													9	77					0	0	0	0	A	41530294	G	A	41530294	2	1	72	1	0	0	0	0	0	0	0	1	620	1368	48	4		4	ANK1	8	41530294	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	3615516	41530294	104833728	105	13745											
PRKDC	5591	broad.mit.edu	37	chr8	48761806	48761807	+	Frame_Shift_Del	DEL	AG	AG	-																															acaaagtaccacctccagacAgagtgttttcaacactccat																										TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:48761806_48761807delAG	ENST00000314191.2	-	55	7241_7242	c.7185_7186delCT	c.(7183-7188)ctgtfs	p.LC2395fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.LC2395fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2396					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACCTCCAGACAGAGTGTTTTCA	0.495								Non-homologous end-joining					7	256	---	---	---	---					-	48761807	AG	-	48761806	7	5	72	1	0	1	0	1	0	0	0	0	12601	188	7	0	5329	0	PRKDC	8	48761806	Frame_Shift_Del	DEL	AG	TCGA-CN-4739-01A-02D-1512-08	7231512	48761806	97602216	106	13746											
PXDNL	137902	broad.mit.edu	37	chr8	52321119	52321119	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctagtgccagggtcccccAggaccttaggcagccagtgg	7	7	13	14	0	0	0	0	0	0	0	2	1	2	1	6	4	2	1	6	4	2	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:52321119A>C	ENST00000356297.4	-	17	3165	c.3065T>G	c.(3064-3066)cTg>cGg	p.L1022R	PXDNL_ENST00000543296.1_Missense_Mutation_p.L1022R	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1022					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGGGTCCCCCAGGACCTTAGG	0.562													6	17					0	0	0	0	C	52321119	A	C	52321119	3	2	72	1	0	0	0	0	1	0	0	0	12930	188	7	5	1354	5	PXDNL	8	52321119	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	3559313	52321119	94042903	107	13747											
ST18	9705	broad.mit.edu	37	chr8	53085133	53085133	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatccataggttttatCatgatttcctctatggaaaa	11	17	5	8	0	3	1	2	1	1	0	5	2	5	2	2	2	0	1	2	2	5	6			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:53085133C>A	ENST00000276480.7	-	10	971	c.288G>T	c.(286-288)atG>atT	p.M96I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	96						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TAGGTTTTATCATGATTTCCT	0.318													29	67					1.88708e-17	2.40105e-17	1	0	A	53085133	C	A	53085133	3	1	72	1	0	0	0	0	1	0	0	0	15302	826	29	2	2923	2	ST18	8	53085133	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	764014	53085133	93278889	108	13748											
RP1	6101	broad.mit.edu	37	chr8	55540810	55540810	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaataaccaacagcatgacAtcaagtgaaagaaacatttc	19	8	5	9	0	2	3	2	2	0	1	3	3	2	3	1	0	4	1	1	0	6	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:55540810A>G	ENST00000220676.1	+	4	4516	c.4368A>G	c.(4366-4368)acA>acG	p.T1456T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1456					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAGCATGACATCAAGTGAAA	0.373													35	114					0	0	0	0	G	55540810	A	G	55540810	2	3	72	1	0	0	0	0	0	0	0	1	13617	204	8	5		5	RP1	8	55540810	Silent	SNP	A	TCGA-CN-4739-01A-02D-1512-08	2455677	55540810	90823212	109	13749											
IMPAD1	54928	broad.mit.edu	37	chr8	57890701	57890701	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgacgtactttcgaagaTcctctatgagaaaaaaaaca	17	10	7	7	2	1	3	0	2	1	2	3	5	2	3	1	0	2	1	1	0	8	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:57890701T>G	ENST00000262644.4	-	3	812	c.554A>C	c.(553-555)gAt>gCt	p.D185A		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	185						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CTTTCGAAGATCCTCTATGAG	0.313													12	349					0	0	0	0	G	57890701	T	G	57890701	3	3	72	1	0	0	0	0	1	0	0	0	7778	1435	50	5	537	5	IMPAD1	8	57890701	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	2349891	57890701	88473321	110	13750											
NKAIN3	286183	broad.mit.edu	37	chr8	63492237	63492237	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctcgatacataatggtggTaagtcttatttttatcattt	11	18	6	6	1	2	0	1	0	1	0	3	1	2	0	1	2	1	1	1	2	5	8			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:63492237T>C	ENST00000523211.1	+	2	324		c.e2+2		NKAIN3_ENST00000328472.5_Splice_Site|NKAIN3_ENST00000519049.1_Splice_Site	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3							integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ATAATGGTGGTAAGTCTTATT	0.323													29	75					0	0	0	0	C	63492237	T	C	63492237	5	2	72	1	0	0	0	0	0	0	1	0	10507	1652	57	5	200	5	NKAIN3	8	63492237	Splice_Site	SNP	T	TCGA-CN-4739-01A-02D-1512-08	5601536	63492237	82871785	111	13751											
PI15	51050	broad.mit.edu	37	chr8	75756223	75756223	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccctacaggtttgggAtgaaaatcttgcaaaatcgg	11	13	9	8	1	1	1	0	1	1	0	3	2	2	2	2	3	2	2	2	3	5	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:75756223A>G	ENST00000260113.2	+	3	460	c.281A>G	c.(280-282)gAt>gGt	p.D94G	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.D94G|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	94						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CAGGTTTGGGATGAAAATCTT	0.393													46	186					0	0	0	0	G	75756223	A	G	75756223	3	3	72	1	0	0	0	0	1	0	0	0	11940	333	12	5	287	5	PI15	8	75756223	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	12263986	75756223	70607799	112	13752											
PKHD1L1	93035	broad.mit.edu	37	chr8	110412536	110412536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagggtgatgaccgttatgCtatttattttagccagactg	10	14	10	7	1	0	3	0	2	0	1	0	3	0	3	2	1	2	2	2	1	5	6			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:110412536C>A	ENST00000378402.5	+	13	1348	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	415					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACCGTTATGCTATTTATTTT	0.368										HNSCC(38;0.096)			16	263					2.32078e-09	2.71047e-09	1	0	A	110412536	C	A	110412536	3	1	72	1	0	0	0	0	1	0	0	0	12044	797	28	4	1294	4	PKHD1L1	8	110412536	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	34656313	110412536	35951486	113	13753											
CSMD3	114788	broad.mit.edu	37	chr8	113395804	113395804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcttatttacctgaatagCttccaagtcttggagcattg	9	16	7	9	0	2	1	0	1	2	0	4	2	3	2	2	1	3	2	2	1	5	7			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:113395804C>A	ENST00000297405.5	-	37	6267	c.6023G>T	c.(6022-6024)aGc>aTc	p.S2008I	CSMD3_ENST00000343508.3_Missense_Mutation_p.S1968I|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1938I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1904I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2008	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCTGAATAGCTTCCAAGTCT	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	129					1.00905e-13	1.24835e-13	1	0	A	113395804	C	A	113395804	3	1	72	1	0	0	0	0	1	0	0	0	3978	797	28	4	5240	4	CSMD3	8	113395804	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	2983268	113395804	32968218	114	13754											
KCNV2	169522	broad.mit.edu	37	chr9	2718222	2718222	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggccgtcttccagctggtCtacaatttctacctgtccgg	5	12	9	15	3	3	0	0	0	3	0	5	0	5	0	5	3	3	1	5	3	3	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:2718222C>G	ENST00000382082.3	+	1	721	c.483C>G	c.(481-483)gtC>gtG	p.V161V		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	161						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TCCAGCTGGTCTACAATTTCT	0.642													6	29					0	0	0	0	G	2718222	C	G	2718222	2	3	72	1	0	0	0	0	0	0	0	1	8148	900	32	2		2	KCNV2	9	2718222	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08		2718222	138495209	115	13755											
IFNA16	3449	broad.mit.edu	37	chr9	21216750	21216750	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttttcaatccttccttctTaatcctttttgcaagtttgt	7	21	4	9	0	2	0	1	0	1	0	5	0	5	0	3	0	1	3	3	0	3	8			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:21216750T>A	ENST00000380216.1	-	1	560	c.555A>T	c.(553-555)ttA>ttT	p.L185F		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	185					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCTTCCTTCTTAATCCTTTTT	0.373													99	253					0	0	0	0	A	21216750	T	A	21216750	3	1	72	1	0	0	0	0	1	0	0	0	7588	1751	61	5	18	5	IFNA16	9	21216750	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	18498528	21216750	119996681	116	13756											
PCSK5	5125	broad.mit.edu	37	chr9	78749092	78749092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgcgggacatttgaacGctaatgactggaaaaccaat	13	8	10	10	3	0	2	0	2	0	0	0	4	0	4	2	2	3	1	2	2	5	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:78749092G>A	ENST00000545128.1	+	10	1814	c.1276G>A	c.(1276-1278)Gct>Act	p.A426T	PCSK5_ENST00000376752.4_Missense_Mutation_p.A426T|PCSK5_ENST00000376767.3_Missense_Mutation_p.A426T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	426	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ACATTTGAACGCTAATGACTG	0.418													6	140					0	0	0	0	A	78749092	G	A	78749092	3	1	72	1	0	0	0	0	1	0	0	0	11674	1087	38	1	1314	1	PCSK5	9	78749092	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	57532342	78749092	62464339	117	13757											
OR2K2	26248	broad.mit.edu	37	chr9	114090596	114090596	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataagagtgctgttgcccaAgagcgttgtcagatacatta	13	11	10	7	1	1	3	1	0	0	3	1	3	1	3	1	0	4	3	1	0	5	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:114090596A>T	ENST00000374428.1	-	1	204	c.205T>A	c.(205-207)Ttg>Atg	p.L69M	OR2K2_ENST00000302681.1_Missense_Mutation_p.L40M			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CTGTTGCCCAAGAGCGTTGTC	0.413													46	95					0	0	0	0	T	114090596	A	T	114090596	3	4	72	1	0	0	0	0	1	0	0	0	11076	69	3	5	835	5	OR2K2	9	114090596	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	35341504	114090596	27122835	118	13758											
OR1B1	347169	broad.mit.edu	37	chr9	125391138	125391138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaatagcggccccaattCggacataagagagtacaatg	15	7	11	8	2	0	2	0	0	0	2	1	4	0	3	2	2	2	2	2	2	7	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:125391138C>A	ENST00000304833.3	-	1	714	c.677G>T	c.(676-678)cGa>cTa	p.R226L	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GGCCCCAATTCGGACATAAGA	0.542													19	64					2.94398e-08	3.40025e-08	1	0	A	125391138	C	A	125391138	3	1	72	1	0	0	0	0	1	0	0	0	11022	884	31	3	282	3	OR1B1	9	125391138	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	11300542	125391138	15822293	119	13759											
GPR21	2844	broad.mit.edu	37	chr9	125797359	125797359	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttccactggggcaaacctGgatatcatggagatgtgttt	9	14	11	7	0	1	1	1	0	0	1	2	3	2	2	2	4	1	2	2	4	2	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:125797359G>T	ENST00000373642.1	+	1	554	c.514G>T	c.(514-516)Gga>Tga	p.G172*	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	172						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGGCAAACCTGGATATCATGG	0.512													43	224					5.44703e-19	6.98738e-19	1	0	T	125797359	G	T	125797359	4	4	72	1	0	0	0	0	0	1	0	0	6730	1349	47	4	516	4	GPR21	9	125797359	Nonsense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	406221	125797359	15416072	120	13760											
NEK6	10783	broad.mit.edu	37	chr9	127089616	127089616	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccttctcctcgccctgcaGacatcaagcctgccaacgtg	7	9	7	18	2	2	1	1	0	1	1	5	1	3	1	5	0	4	1	5	0	2	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:127089616G>A	ENST00000373600.3	+	8	831		c.e8-1		NEK6_ENST00000373603.1_Splice_Site|NEK6_ENST00000546191.1_Splice_Site|NEK6_ENST00000545174.1_Splice_Site|NEK6_ENST00000320246.5_Splice_Site|NEK6_ENST00000540326.1_Splice_Site|NEK6_ENST00000394199.2_Splice_Site|NEK6_ENST00000539416.1_Splice_Site	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6						apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						TCGCCCTGCAGACATCAAGCC	0.632													100	233					0	0	0	0	A	127089616	G	A	127089616	5	1	72	1	0	0	0	0	0	0	1	0	10398	956	33	2	721	2	NEK6	9	127089616	Splice_Site	SNP	G	TCGA-CN-4739-01A-02D-1512-08	1292257	127089616	14123815	121	13761											
UCK1	83549	broad.mit.edu	37	chr9	134404388	134404388	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggtgtactgcgtcagaatCtgctccaggtccctccctcg	5	11	11	14	2	2	1	1	0	1	1	6	1	5	1	3	2	3	2	3	2	2	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:134404388C>G	ENST00000372215.4	-	5	639	c.546G>C	c.(544-546)caG>caC	p.Q182H	UCK1_ENST00000372208.3_Intron|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372210.3_Missense_Mutation_p.Q173H|UCK1_ENST00000372211.3_Missense_Mutation_p.Q187H	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	182					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GCGTCAGAATCTGCTCCAGGT	0.642													11	20					0	0	0	0	G	134404388	C	G	134404388	3	3	72	1	0	0	0	0	1	0	0	0	17019	912	32	2	299	2	UCK1	9	134404388	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	7314772	134404388	6809043	122	13762											
SVIL	6840	broad.mit.edu	37	chr10	29822126	29822126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgctacccagctacaCtcagatgcattttctggggt	8	12	10	11	0	2	2	1	1	1	1	2	2	2	2	1	2	5	4	1	2	2	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:29822126C>A	ENST00000375398.2	-	10	1619	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.E390D			O95425	SVIL_HUMAN	supervillin	390					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCCAGCTACACTCAGATGCAT	0.562													32	87					2.20262e-25	2.8846e-25	1	0	A	29822126	C	A	29822126	3	1	72	1	0	0	0	0	1	0	0	0	15511	564	20	4	5598	4	SVIL	10	29822126	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08		29822126	105712621	123	13763											
HERC4	26091	broad.mit.edu	37	chr10	69695987	69695987	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcaccaaagttttcaacTgtgatctattaatttaaatt	13	17	5	6	0	2	1	1	1	1	0	2	1	2	1	1	0	2	3	1	0	6	8			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:69695987T>A	ENST00000395198.3	-	23	2848	c.2601A>T	c.(2599-2601)acA>acT	p.T867T	HERC4_ENST00000277817.6_Silent_p.T757T|HERC4_ENST00000373700.4_Silent_p.T859T|HERC4_ENST00000412272.2_Silent_p.T789T|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	867	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AGTTTTCAACTGTGATCtatt	0.284													48	171					0	0	0	0	A	69695987	T	A	69695987	2	1	72	1	0	0	0	0	0	0	0	1	7110	1567	55	5		5	HERC4	10	69695987	Silent	SNP	T	TCGA-CN-4739-01A-02D-1512-08	39873861	69695987	65838760	124	13764											
GRID1	2894	broad.mit.edu	37	chr10	87482888	87482888	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggccatggagttcacggaAgattcgccacctgcgggagg	9	7	15	10	3	1	1	1	0	0	1	2	4	1	4	3	5	1	1	3	5	1	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:87482888A>G	ENST00000327946.7	-	12	1954	c.1869T>C	c.(1867-1869)tcT>tcC	p.S623S	GRID1_ENST00000536331.1_Silent_p.S194S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	623						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGTTCACGGAAGATTCGCCAC	0.597										Multiple Myeloma(13;0.14)			13	50					0	0	0	0	G	87482888	A	G	87482888	2	3	72	1	0	0	0	0	0	0	0	1	6821	59	3	5		5	GRID1	10	87482888	Silent	SNP	A	TCGA-CN-4739-01A-02D-1512-08	17786901	87482888	48051859	125	13765											
RNLS	55328	broad.mit.edu	37	chr10	90122454	90122454	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagtagctcacagcctcCagttgctgcctttggcattc	7	11	11	12	0	1	0	1	0	0	0	3	2	2	1	3	2	4	5	3	2	1	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:90122454C>T	ENST00000371947.3	-	5	1894	c.555G>A	c.(553-555)ctG>ctA	p.L185L	RNLS_ENST00000331772.4_Silent_p.L185L|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.L102L	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	185						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TCACAGCCTCCAGTTGCTGCC	0.408													18	51					0	0	0	0	T	90122454	C	T	90122454	2	4	72	1	0	0	0	0	0	0	0	1	13590	581	21	4		4	RNLS	10	90122454	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	2639566	90122454	45412293	126	13766											
ANKRD2	26287	broad.mit.edu	37	chr10	99343356	99343356	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagaccccgacggacctGgtgcagctctggcaggctga	9	5	15	12	2	1	2	0	1	1	1	1	5	1	4	3	5	2	4	3	5	1	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:99343356G>C	ENST00000307518.5	+	9	1224	c.957G>C	c.(955-957)ctG>ctC	p.L319L	ANKRD2_ENST00000455090.1_Silent_p.L259L|ANKRD2_ENST00000370655.1_Silent_p.L292L|ANKRD2_ENST00000298808.5_Silent_p.L286L			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	319					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CGACGGACCTGGTGCAGCTCT	0.622													7	11					0	0	0	0	C	99343356	G	C	99343356	2	2	72	1	0	0	0	0	0	0	0	1	647	1335	47	4		4	ANKRD2	10	99343356	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	9220902	99343356	36191391	127	13767											
NT5C2	22978	broad.mit.edu	37	chr10	104860861	104860861	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccaacaggtaggtctcTgaaaaatgaagaacagatat	17	7	10	7	0	1	4	0	2	1	2	2	4	1	4	1	3	2	1	1	3	7	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:104860861T>C	ENST00000343289.5	-	7	569		c.e7-2		NT5C2_ENST00000369857.4_Splice_Site|NT5C2_ENST00000404739.3_Splice_Site|NT5C2_ENST00000423468.2_Splice_Site	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II						purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GGTAGGTCTCTGAAAAATGAA	0.308													15	52					0	0	0	0	C	104860861	T	C	104860861	5	2	72	1	0	0	0	0	0	0	1	0	10758	1594	55	5	1253	5	NT5C2	10	104860861	Splice_Site	SNP	T	TCGA-CN-4739-01A-02D-1512-08	5517505	104860861	30673886	128	13768											
C10orf118	55088	broad.mit.edu	37	chr10	115895718	115895718	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagatcttctagttcctTtattttggcatgatgcatct	7	19	6	9	0	4	2	1	1	3	1	5	2	5	2	1	1	1	3	1	1	2	8			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:115895718T>A	ENST00000369287.3	-	9	1710	c.1444A>T	c.(1444-1446)Aag>Tag	p.K482*	C10orf118_ENST00000543782.1_Nonsense_Mutation_p.K80*	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	482										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCTAGTTCCTTTATTTTGGCA	0.333													45	101					0	0	0	0	A	115895718	T	A	115895718	4	1	72	1	0	0	0	0	0	1	0	0	1597	1850	64	5	1284	5	C10orf118	10	115895718	Nonsense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	11034857	115895718	19639029	129	13769											
ATRNL1	26033	broad.mit.edu	37	chr10	117226686	117226686	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttcttttctggtagtcGaacaaaaatctggatatatc	12	17	6	6	1	3	0	0	0	3	0	5	2	3	1	0	2	1	1	0	2	7	8			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:117226686G>T	ENST00000355044.3	+	23	3546	c.3420G>T	c.(3418-3420)tcG>tcT	p.S1140S	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Silent_p.S191S	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1140						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTGGTAGTCGAACAAAAATC	0.274													15	84					6.31663e-08	7.24214e-08	1	0	T	117226686	G	T	117226686	2	4	72	1	0	0	0	0	0	0	0	1	1211	1045	37	3		3	ATRNL1	10	117226686	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	1330968	117226686	18308061	130	13770											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118355756	118355756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctaccccccttccaaagttCacctcattggccacagcctg	8	9	6	18	0	2	0	2	0	0	0	3	0	3	0	7	1	2	2	7	1	2	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:118355756C>T	ENST00000528052.1	+	6	567	c.496C>T	c.(496-498)Cac>Tac	p.H166Y	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.H166Y|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.H166Y			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	166					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TTCCAAAGTTCACCTCATTGG	0.527													94	322					0	0	0	0	T	118355756	C	T	118355756	3	4	72	1	0	0	0	0	1	0	0	0	12222	826	29	2	514	2	PNLIPRP1	10	118355756	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	1129070	118355756	17178991	131	13771											
CTBP2	1488	broad.mit.edu	37	chr10	126715459	126715459	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaaggccaggaactcaggGagcacggtcctcttgccacc	11	5	12	13	1	2	1	1	0	1	1	3	3	3	3	4	4	3	1	4	4	2	1	rs111660964		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:126715459G>T	ENST00000309035.6	-	1	1000	c.870C>A	c.(868-870)ctC>ctA	p.L290L	CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGAACTCAGGGAGCACGGTCC	0.652													20	77					2.4624e-09	2.86517e-09	1	0	T	126715459	G	T	126715459	2	4	72	1	0	0	0	0	0	0	0	1	4030	1161	41	2		2	CTBP2	10	126715459	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	8359703	126715459	8819288	132	13772											
USH1C	10083	broad.mit.edu	37	chr11	17547981	17547981	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggagcccaggctgcctCgcacgccctgaaagagagat	10	4	14	13	2	0	3	0	1	0	2	1	5	0	4	3	3	2	2	3	3	1	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:17547981C>A	ENST00000005226.7	-	8	586	c.587G>T	c.(586-588)cGa>cTa	p.R196L	USH1C_ENST00000527020.1_Missense_Mutation_p.R196L|USH1C_ENST00000527720.1_Missense_Mutation_p.R165L|USH1C_ENST00000318024.4_Missense_Mutation_p.R196L	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	196					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CAGGCTGCCTCGCACGCCCTG	0.597													4	41					0.00024832	0.000263472	1	0	A	17547981	C	A	17547981	3	1	72	1	0	0	0	0	1	0	0	0	17130	884	31	3	2270	3	USH1C	11	17547981	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08		17547981	117458535	133	13773											
TTC17	55761	broad.mit.edu	37	chr11	43513568	43513568	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattctccttcttctcccAggatgtgcccctgattagcc	6	13	6	16	0	3	1	0	1	3	0	5	2	3	2	6	1	2	0	6	1	1	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:43513568A>T	ENST00000039989.4	+	23	3164		c.e23-1			NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17								binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTCTTCTCCCAGGATGTGCCC	0.468													113	267					0	0	0	0	T	43513568	A	T	43513568	5	4	72	1	0	0	0	0	0	0	1	0	16780	202	7	5	3239	5	TTC17	11	43513568	Splice_Site	SNP	A	TCGA-CN-4739-01A-02D-1512-08	25965587	43513568	91492948	134	13774											
OR5D13	390142	broad.mit.edu	37	chr11	55541467	55541467	+	Missense_Mutation	SNP	T	T	C																															ttttatctgtgaccactctgTaattgtttctgcctcctact																										TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:55541467T>C	ENST00000361760.1	+	1	554	c.554T>C	c.(553-555)gTa>gCa	p.V185A		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GACCACTCTGTAATTGTTTCT	0.388													33	204					0	0	0	0	C	55541467	T	C	55541467	3	2	72	1	0	0	0	0	1	0	0	0	11225	1638	57	5	556	5	OR5D13	11	55541467	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	12027899	55541467	79465049	135	13775	123	2									
OR5D13	390142	broad.mit.edu	37	chr11	55541468	55541468	+	Silent	SNP	A	A	T																															tttatctgtgaccactctgtAattgtttctgcctcctactc																										TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:55541468A>T	ENST00000361760.1	+	1	555	c.555A>T	c.(553-555)gtA>gtT	p.V185V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACCACTCTGTAATTGTTTCTG	0.388													34	205					0	0	0	0	T	55541468	A	T	55541468	2	4	72	1	0	0	0	0	0	0	0	1	11225	349	13	5		5	OR5D13	11	55541468	Silent	SNP	A	TCGA-CN-4739-01A-02D-1512-08	1	55541468	79465048	136	13776	123	2									
OR8J1	219477	broad.mit.edu	37	chr11	56128342	56128342	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatctgcagcaacaaatgTggttggttccttgattatag	11	15	9	6	0	1	1	0	1	1	0	2	1	2	1	1	2	3	4	1	2	6	7			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:56128342T>C	ENST00000303039.3	+	1	652	c.620T>C	c.(619-621)gTg>gCg	p.V207A		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GCAACAAATGTGGTTGGTTCC	0.308													37	118					0	0	0	0	C	56128342	T	C	56128342	3	2	72	1	0	0	0	0	1	0	0	0	11312	1696	59	5	622	5	OR8J1	11	56128342	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	586874	56128342	78878174	137	13777											
ADRBK1	156	broad.mit.edu	37	chr11	67047163	67047163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcaggtgcctccggatCtcttccaggtgtgtgcctcc	6	10	12	13	1	1	1	0	0	1	1	5	2	4	2	5	3	3	1	5	3	1	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:67047163C>A	ENST00000308595.5	+	5	723	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	ADRBK1_ENST00000526285.1_Missense_Mutation_p.L145I	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	145	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCCTCCGGATCTCTTCCAGGT	0.632													26	97					7.92952e-12	9.58278e-12	1	0	A	67047163	C	A	67047163	3	1	72	1	0	0	0	0	1	0	0	0	343	913	32	2	451	2	ADRBK1	11	67047163	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	10918821	67047163	67959353	138	13778											
SHANK2	22941	broad.mit.edu	37	chr11	70331650	70331650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcactgcccggcgggggcGggggagcgggcggggggata	4	2	26	9	5	0	0	0	0	0	0	0	2	0	2	1	10	2	1	1	10	1	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:70331650G>A	ENST00000338508.4	-	32	4750	c.4751C>T	c.(4750-4752)cCg>cTg	p.P1584L	SHANK2_ENST00000449833.2_Missense_Mutation_p.P988L|SHANK2_ENST00000423696.2_Missense_Mutation_p.P1204L|SHANK2_ENST00000409161.1_Missense_Mutation_p.P987L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1204					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			cggcgggggcgggggagcggg	0.567													29	160					0	0	0	0	A	70331650	G	A	70331650	3	1	72	1	0	0	0	0	1	0	0	0	14353	1116	39	1	809	1	SHANK2	11	70331650	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	3284487	70331650	64674866	139	13779											
ATM	472	broad.mit.edu	37	chr11	108160406	108160406	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttataagaagcacagaatTcttaaaatatatcacctgtt	16	14	5	6	0	2	2	1	0	1	2	2	2	2	2	1	0	1	3	1	0	8	8			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:108160406T>C	ENST00000278616.4	+	29	4699	c.4314T>C	c.(4312-4314)atT>atC	p.I1438I	ATM_ENST00000452508.2_Silent_p.I1438I	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1438					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGCACAGAATTCTTAAAATAT	0.318			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			9	102					0	0	0	0	C	108160406	T	C	108160406	2	2	72	1	0	0	0	0	0	0	0	1	1113	1771	62	5		5	ATM	11	108160406	Silent	SNP	T	TCGA-CN-4739-01A-02D-1512-08	37828756	108160406	26846110	140	13780											
HINFP	25988	broad.mit.edu	37	chr11	119003216	119003216	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccaccccagagcagcacttCcagtgttctcactgttccaa	9	9	6	17	0	1	1	1	0	1	1	4	1	3	1	5	0	2	4	5	0	1	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:119003216C>G	ENST00000350777.2	+	6	750	c.687C>G	c.(685-687)ttC>ttG	p.F229L	HINFP_ENST00000527410.1_Missense_Mutation_p.F229L	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	229					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCAGCACTTCCAGTGTTCTC	0.592													35	73					0	0	0	0	G	119003216	C	G	119003216	3	3	72	1	0	0	0	0	1	0	0	0	7160	854	30	2	705	2	HINFP	11	119003216	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	10842810	119003216	16003300	141	13781											
USP2	9099	broad.mit.edu	37	chr11	119243870	119243870	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatccgctgcccccgctGaggccactgcctaaaggccg	7	5	13	16	3	0	1	0	1	0	0	1	2	1	2	6	3	2	2	6	3	3	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:119243870G>T	ENST00000260187.2	-	2	615	c.321C>A	c.(319-321)ctC>ctA	p.L107L	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	107	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGCCCCCGCTGAGGCCACTGC	0.637													32	207					2.08457e-15	2.63093e-15	1	0	T	119243870	G	T	119243870	2	4	72	1	0	0	0	0	0	0	0	1	17147	1277	45	2		2	USP2	11	119243870	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	240654	119243870	15762646	142	13782											
TECTA	7007	broad.mit.edu	37	chr11	121016545	121016545	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgggtgaagagggacacCttctgccaggtgggctgtgg	7	8	18	8	0	1	2	0	1	1	1	1	3	1	3	2	5	2	2	2	5	1	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:121016545C>A	ENST00000392793.1	+	12	4096	c.3825C>A	c.(3823-3825)acC>acA	p.T1275T	TECTA_ENST00000264037.2_Silent_p.T1275T|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1275	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGAGGGACACCTTCTGCCAGG	0.592													52	158					1.81118e-26	2.39198e-26	1	0	A	121016545	C	A	121016545	2	1	72	1	0	0	0	0	0	0	0	1	15841	668	24	4		4	TECTA	11	121016545	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	1772675	121016545	13989971	143	13783											
CACNA1C	775	broad.mit.edu	37	chr12	2705075	2705075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcattgtcaatgacaCgatcttcaccaacctgatcc	11	9	5	16	2	3	2	2	2	1	0	4	3	4	2	5	0	1	1	5	0	2	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:2705075C>T	ENST00000399655.1	+	20	2964	c.2699C>T	c.(2698-2700)aCg>aTg	p.T900M	CACNA1C_ENST00000399595.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T925M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T900M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T900M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T900M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T900M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T900M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T900M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	900					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.T900M(3)|p.T930M(1)|p.T435M(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTCAATGACACGATCTTCACC	0.562													21	78					0	0	0	0	T	2705075	C	T	2705075	3	4	72	1	0	0	0	0	1	0	0	0	2565	536	19	1	2885	1	CACNA1C	12	2705075	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08		2705075	131146820	144	13784											
FGF23	8074	broad.mit.edu	37	chr12	4479556	4479557	+	Frame_Shift_Ins	INS	-	-	A																															ccttccgggcccgttcccccINSagcgtgcgtgttcactcgac																										TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:4479556_4479557insA	ENST00000237837.1	-	3	853_854	c.708_709insT	c.(706-711)gcggggfs	p.AG236fs		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	236					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CCCGTTCCCCCAGCGTGCGTGT	0.649													31	128	---	---	---	---					A	4479557	-	A	4479556	7	5	72	1	0	1	1	0	0	0	0	0	5897	594	21	0	50	0	FGF23	12	4479556	Frame_Shift_Ins	INS	-	TCGA-CN-4739-01A-02D-1512-08	1774481	4479556	129372339	145	13785											
FGF23	8074	broad.mit.edu	37	chr12	4479673	4479673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccggggccggggtcatccGggcccggggcttcagcacgt	3	5	19	14	5	2	0	2	0	0	0	3	0	3	0	4	8	1	2	4	8	0	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:4479673G>A	ENST00000237837.1	-	3	737	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	198					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.R198W(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GGGGTCATCCGGGCCCGGGGC	0.697													12	50					0	0	0	0	A	4479673	G	A	4479673	3	1	72	1	0	0	0	0	1	0	0	0	5897	1115	39	1	167	1	FGF23	12	4479673	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	117	4479673	129372222	146	13786											
TMTC1	83857	broad.mit.edu	37	chr12	29786262	29786262	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagaggtaggaataggTgaggaatctataaagagaag	17	6	15	3	0	1	3	0	1	1	2	1	6	1	5	1	5	0	1	1	5	9	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:29786262T>C	ENST00000256062.5	-	6	1095	c.622A>G	c.(622-624)Acc>Gcc	p.T208A	TMTC1_ENST00000551659.1_Missense_Mutation_p.T378A|TMTC1_ENST00000539277.1_Missense_Mutation_p.T316A|TMTC1_ENST00000552618.1_Missense_Mutation_p.T378A|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.T270A	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	316						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TAGGAATAGGTGAGGAATCTA	0.438													8	120					0	0	0	0	C	29786262	T	C	29786262	3	2	72	1	0	0	0	0	1	0	0	0	16354	1696	59	5	1754	5	TMTC1	12	29786262	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	25306589	29786262	104065633	147	13787											
YARS2	51067	broad.mit.edu	37	chr12	32903773	32903773	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatgatatgatcaatcTctggaaggggcaggaaagtg	12	9	14	6	0	2	2	1	2	1	0	3	4	2	4	0	4	1	3	0	4	4	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:32903773T>A	ENST00000324868.8	-	3	1010	c.983A>T	c.(982-984)gAg>gTg	p.E328V		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	328					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	ATGATCAATCTCTGGAAGGGG	0.423													30	122					0	0	0	0	A	32903773	T	A	32903773	3	1	72	1	0	0	0	0	1	0	0	0	17564	1551	54	5	462	5	YARS2	12	32903773	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	3117511	32903773	100948122	148	13788											
PDZRN4	29951	broad.mit.edu	37	chr12	41961614	41961614	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctggctggaagatgaaagGaatgaattcttagaggagtt	13	10	15	3	0	1	4	0	2	1	2	1	7	1	7	0	5	0	3	0	5	5	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:41961614G>A	ENST00000298919.7	+	9	1105	c.717G>A	c.(715-717)agG>agA	p.R239R	PDZRN4_ENST00000539469.2_Silent_p.R241R|PDZRN4_ENST00000402685.2_Silent_p.R499R			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	499	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAGATGAAAGGAATGAATTCT	0.388													21	78					0	0	0	0	A	41961614	G	A	41961614	2	1	72	1	0	0	0	0	0	0	0	1	11781	1165	41	2		2	PDZRN4	12	41961614	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	9057841	41961614	91890281	149	13789											
ANKRD52	283373	broad.mit.edu	37	chr12	56648493	56648493	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccaccagcagttttaggaCctccaagtgccctgagaaaa	12	8	9	12	0	0	1	0	1	0	1	1	3	1	2	5	1	3	2	5	1	4	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:56648493C>A	ENST00000267116.7	-	7	683	c.562G>T	c.(562-564)Gtc>Ttc	p.V188F		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	188							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGTTTTAGGACCTCCAAGTGC	0.542													7	35					0.0293803	0.0298573	1	0	A	56648493	C	A	56648493	3	1	72	1	0	0	0	0	1	0	0	0	677	507	18	4	2756	4	ANKRD52	12	56648493	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	14686879	56648493	77203402	150	13790											
NACA	4666	broad.mit.edu	37	chr12	57112034	57112034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgggggatggggtagctgGgcctccttttggggagggag	4	11	21	5	0	0	0	0	0	0	0	1	3	1	3	2	8	1	2	2	8	1	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:57112034G>A	ENST00000454682.1	-	3	3561	c.3280C>T	c.(3280-3282)Cca>Tca	p.P1094S	NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGGTAGCTGGGCCTCCTTTT	0.657			T	BCL6	NHL								31	88					0	0	0	0	A	57112034	G	A	57112034	3	1	72	1	0	0	0	0	1	0	0	0	10203	1232	43	4	2984	4	NACA	12	57112034	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	463541	57112034	76739861	151	13791											
NAV3	89795	broad.mit.edu	37	chr12	78511822	78511822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatagctgaggacagattcaGagaaacgctccaccacagac	15	6	9	11	1	1	4	1	1	0	3	2	6	2	5	2	1	2	2	2	1	3	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:78511822G>A	ENST00000397909.2	+	14	2958	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K	NAV3_ENST00000228327.6_Missense_Mutation_p.E929K|NAV3_ENST00000266692.7_Missense_Mutation_p.E929K|NAV3_ENST00000536525.2_Missense_Mutation_p.E929K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	929						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GACAGATTCAGAGAAACGCTC	0.378										HNSCC(70;0.22)			40	186					0	0	0	0	A	78511822	G	A	78511822	3	1	72	1	0	0	0	0	1	0	0	0	10255	943	33	2	2839	2	NAV3	12	78511822	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	21399788	78511822	55340073	152	13792											
PPFIA2	8499	broad.mit.edu	37	chr12	81768486	81768486	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagcctttctcatggtcTgctgcaacttttgttcagct	5	18	7	11	0	4	0	3	0	2	0	5	0	4	0	1	1	5	4	1	1	1	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:81768486T>A	ENST00000550584.2	-	10	1488	c.1193A>T	c.(1192-1194)cAg>cTg	p.Q398L	PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q299L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q398L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q380L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q398L|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q324L|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q245L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q380L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.Q398L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	324										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTCATGGTCTGCTGCAACTT	0.463													42	109					0	0	0	0	A	81768486	T	A	81768486	3	1	72	1	0	0	0	0	1	0	0	0	12381	1580	55	5	2668	5	PPFIA2	12	81768486	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	3256664	81768486	52083409	153	13793											
GALNT4	8693	broad.mit.edu	37	chr12	89918285	89918285	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccactgttaaaaacgccagCagcaggcagctcttgcctgc	10	7	10	14	1	1	0	0	0	1	0	1	0	1	0	3	1	6	5	3	1	3	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:89918285C>T	ENST00000529983.2	-	1	298	c.42G>A	c.(40-42)ctG>ctA	p.L14L	POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000548729.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)	14					carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						AAAACGCCAGCAGCAGGCAGC	0.622											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	80					0	0	0	0	T	89918285	C	T	89918285	2	4	72	1	0	0	0	0	0	0	0	1	6264	697	25	4		4	GALNT4	12	89918285	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	8149799	89918285	43933610	154	13794											
APAF1	317	broad.mit.edu	37	chr12	99056498	99056498	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagttccttaggaaaggaaaAaggacttgaaattttatccc	15	11	9	6	0	0	1	0	1	0	0	2	5	2	4	2	3	0	1	2	3	6	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:99056498A>G	ENST00000357310.1	+	7	1446	c.869A>G	c.(868-870)aAa>aGa	p.K290R	APAF1_ENST00000547045.1_Missense_Mutation_p.K290R|APAF1_ENST00000359972.2_Missense_Mutation_p.K279R|APAF1_ENST00000339433.3_Missense_Mutation_p.K290R|APAF1_ENST00000333991.1_Missense_Mutation_p.K290R|APAF1_ENST00000552268.1_Missense_Mutation_p.K290R|APAF1_ENST00000551964.1_Missense_Mutation_p.K290R|APAF1_ENST00000550527.1_Missense_Mutation_p.K279R|APAF1_ENST00000549007.1_Missense_Mutation_p.K290R	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	290	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GGAAAGGAAAAAGGACTTGAA	0.313													20	82					0	0	0	0	G	99056498	A	G	99056498	3	3	72	1	0	0	0	0	1	0	0	0	756	14	1	5	891	5	APAF1	12	99056498	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	9138213	99056498	34795397	155	13795											
SLC5A8	160728	broad.mit.edu	37	chr12	101576647	101576647	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtaaggtttgattagatCttccacagttactgctgcta	11	14	9	7	0	1	2	0	1	1	1	2	3	2	2	1	1	3	5	1	1	5	6			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:101576647C>A	ENST00000536262.2	-	9	1657	c.1099G>T	c.(1099-1101)Gat>Tat	p.D367Y		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	367					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGATTAGATCTTCCACAGTT	0.343													25	127					1.32003e-05	1.44972e-05	1	0	A	101576647	C	A	101576647	3	1	72	1	0	0	0	0	1	0	0	0	14759	913	32	2	761	2	SLC5A8	12	101576647	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	2520149	101576647	32275248	156	13796											
DTX1	1840	broad.mit.edu	37	chr12	113515368	113515368	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaccatccagaacgcctaCgagaagcagcacccgtggct	12	5	9	15	3	1	2	1	0	0	2	2	3	2	2	4	1	4	3	4	1	3	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:113515368C>T	ENST00000257600.3	+	2	902	c.399C>T	c.(397-399)taC>taT	p.Y133Y		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	133	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGAACGCCTACGAGAAGCAGC	0.627													4	63					0	0	0	0	T	113515368	C	T	113515368	2	4	72	1	0	0	0	0	0	0	0	1	4829	547	19	1		1	DTX1	12	113515368	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	11938721	113515368	20336527	157	13797											
PDS5B	23047	broad.mit.edu	37	chr13	33334734	33334734	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaacaaccaatgttctaGgagctgttaacaagccactt	15	10	6	10	0	1	0	0	0	1	0	1	1	1	1	2	1	5	3	2	1	7	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr13:33334734G>C	ENST00000315596.10	+	30	3580	c.3394G>C	c.(3394-3396)Gga>Cga	p.G1132R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1132					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CAATGTTCTAGGAGCTGTTAA	0.383													19	62					0	0	0	0	C	33334734	G	C	33334734	3	2	72	1	0	0	0	0	1	0	0	0	11763	1001	35	4	3508	4	PDS5B	13	33334734	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08		33334734	81835144	158	13798											
FAM124A	220108	broad.mit.edu	37	chr13	51826206	51826206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagtgcccggtgcccaccGactcctccgtgctggagttc	5	8	11	17	3	0	0	0	0	0	0	3	2	2	1	6	2	3	2	6	2	0	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr13:51826206G>A	ENST00000322475.8	+	3	838	c.703G>A	c.(703-705)Gac>Aac	p.D235N	FAM124A_ENST00000280057.6_Missense_Mutation_p.D271N	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	235								p.D271N(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GGTGCCCACCGACTCCTCCGT	0.602													35	70					0	0	0	0	A	51826206	G	A	51826206	3	1	72	1	0	0	0	0	1	0	0	0	5466	1058	37	1	825	1	FAM124A	13	51826206	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	18491472	51826206	63343672	159	13799											
DZIP1	22873	broad.mit.edu	37	chr13	96242634	96242634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctctttcttgcttatgtCtttctgattccacacttttt	4	24	3	10	0	4	1	0	1	4	0	6	1	5	1	1	0	1	1	1	0	1	8			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr13:96242634C>T	ENST00000347108.3	-	15	2174	c.1742G>A	c.(1741-1743)aGa>aAa	p.R581K	DZIP1_ENST00000361156.3_Missense_Mutation_p.R562K|DZIP1_ENST00000361396.2_Missense_Mutation_p.R562K|DZIP1_ENST00000376829.2_Missense_Mutation_p.R581K			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	581					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTGCTTATGTCTTTCTGATTC	0.368													50	105					0	0	0	0	T	96242634	C	T	96242634	3	4	72	1	0	0	0	0	1	0	0	0	4899	913	32	2	889	2	DZIP1	13	96242634	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	44416428	96242634	18927244	160	13800											
CLEC14A	161198	broad.mit.edu	37	chr14	38724597	38724597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggcagagcgcactcacctCggtcccaggtggactgaagt	8	6	13	14	3	1	2	1	1	0	1	3	3	2	3	3	4	1	2	3	4	1	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:38724597C>T	ENST00000342213.2	-	1	977	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	211						integral to membrane	sugar binding	p.E211*(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCACTCACCTCGGTCCCAGGT	0.652													76	176					0	0	0	0	T	38724597	C	T	38724597	3	4	72	1	0	0	0	0	1	0	0	0	3529	893	31	1	845	1	CLEC14A	14	38724597	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08		38724597	68624943	161	13801											
FAM179B	23116	broad.mit.edu	37	chr14	45431656	45431656	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctccgcgctgcttctgcTgccgccctttccagtcctct	1	12	7	21	3	2	0	0	0	2	0	5	0	5	0	7	0	3	3	7	0	0	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:45431656T>A	ENST00000361462.2	+	1	215	c.32T>A	c.(31-33)cTg>cAg	p.L11Q	FAM179B_ENST00000361577.3_Missense_Mutation_p.L11Q|FAM179B_ENST00000382233.2_Missense_Mutation_p.L11Q			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	11							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTGCTTCTGCTGCCGCCCTTT	0.612													4	49					0	0	0	0	A	45431656	T	A	45431656	3	1	72	1	0	0	0	0	1	0	0	0	5547	1580	55	5	34	5	FAM179B	14	45431656	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	6707059	45431656	61917884	162	13802											
TMEM229B	161145	broad.mit.edu	37	chr14	67940192	67940192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggcgccgctgggctccccgGgctcagcgtccttgtcgaag	3	7	16	15	5	1	0	1	0	0	0	4	1	3	0	4	3	1	3	4	3	1	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:67940192G>T	ENST00000357461.2	-	3	858	c.449C>A	c.(448-450)cCc>cAc	p.P150H	TMEM229B_ENST00000557006.1_Missense_Mutation_p.P150H	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	150						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGGCTCCCCGGGCTCAGCGTC	0.657													15	81					2.32078e-09	2.71047e-09	1	0	T	67940192	G	T	67940192	3	4	72	1	0	0	0	0	1	0	0	0	16242	1232	43	4	58	4	TMEM229B	14	67940192	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	22508536	67940192	39409348	163	13803											
ASPG	374569	broad.mit.edu	37	chr14	104561928	104561928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgacaccatggcctttGctgcctcgatgctgtccttc	5	11	9	16	2	0	0	0	0	0	0	3	2	1	0	5	1	3	3	5	1	0	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:104561928G>A	ENST00000551177.1	+	4	456	c.364G>A	c.(364-366)Gct>Act	p.A122T	ASPG_ENST00000455920.2_Missense_Mutation_p.A122T|ASPG_ENST00000546892.2_Missense_Mutation_p.A122T	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	122	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CATGGCCTTTGCTGCCTCGAT	0.637													35	63					0	0	0	0	A	104561928	G	A	104561928	3	1	72	1	0	0	0	0	1	0	0	0	1056	1319	46	4	378	4	ASPG	14	104561928	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	36621736	104561928	2787612	164	13804											
MTA1	9112	broad.mit.edu	37	chr14	105932764	105932764	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtgtcattcccggcagaGacccacccccgcccccccaa	7	5	7	22	2	1	1	1	0	0	1	2	2	2	1	8	1	0	1	8	1	1	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:105932764G>A	ENST00000331320.7	+	17	1840	c.1624_splice	c.e17-1	p.E542_splice	MTA1_ENST00000435036.2_Splice_Site_p.E78_splice|MTA1_ENST00000405646.1_Splice_Site_p.E525_splice|MTA1_ENST00000406191.1_Splice_Site_p.E542_splice	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	542					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TCCCGGCAGAGACCCACCCCC	0.682													5	6					0	0	0	0	A	105932764	G	A	105932764	5	1	72	1	0	0	0	0	0	0	1	0	9978	956	33	2	1692	2	MTA1	14	105932764	Splice_Site	SNP	G	TCGA-CN-4739-01A-02D-1512-08	1370836	105932764	1416776	165	13805											
ADAMTS7	11173	broad.mit.edu	37	chr15	79089014	79089014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcatcagctactaccaggGtctccacccacttctctttg	7	12	7	15	0	3	0	1	0	2	0	5	0	3	0	3	2	3	2	3	2	2	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:79089014G>T	ENST00000388820.4	-	4	947	c.737C>A	c.(736-738)aCc>aAc	p.T246N	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	246	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TACTACCAGGGTCTCCACCCA	0.607													10	190					2.80697e-09	3.25401e-09	1	0	T	79089014	G	T	79089014	3	4	72	1	0	0	0	0	1	0	0	0	271	1261	44	4	4407	4	ADAMTS7	15	79089014	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08		79089014	23442378	166	13806											
IGF1R	3480	broad.mit.edu	37	chr15	99467897	99467897	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggacagatcctgtgttcttCtatgtccaggccaaaagtaa	11	12	9	9	0	2	1	0	0	2	1	4	2	4	2	3	2	0	2	3	2	4	4	rs45514893	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:99467897C>T	ENST00000268035.6	+	13	3377	c.2766C>T	c.(2764-2766)ttC>ttT	p.F922F	IGF1R_ENST00000558762.1_Silent_p.F922F	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	922	Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CTGTGTTCTTCTATGTCCAGG	0.547													18	98					0	0	0	0	T	99467897	C	T	99467897	2	4	72	1	0	0	0	0	0	0	0	1	7624	912	32	2		2	IGF1R	15	99467897	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	20378883	99467897	3063495	167	13807											
WDR24	84219	broad.mit.edu	37	chr16	739435	739435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggttaagcgaaggcttgCgccccacacgcaggttcagc	9	7	12	13	3	2	0	2	0	0	0	2	1	2	0	2	3	3	4	2	3	2	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:739435C>A	ENST00000293883.4	-	1	965	c.206G>T	c.(205-207)cGc>cTc	p.R69L	WDR24_ENST00000248142.6_Missense_Mutation_p.R131L	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	131								p.R131H(1)|p.R69H(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CGAAGGCTTGCGCCCCACACG	0.602													25	54					5.35047e-06	5.93864e-06	1	0	A	739435	C	A	739435	3	1	72	1	0	0	0	0	1	0	0	0	17377	768	27	3	2202	3	WDR24	16	739435	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08		739435	89615318	168	13808											
PKD1	5310	broad.mit.edu	37	chr16	2164578	2164578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccactggggagaccacgtCaaagctgcaggagaggttgt	11	6	15	9	1	1	2	1	0	0	2	1	4	1	2	2	4	3	3	2	4	1	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:2164578C>A	ENST00000262304.4	-	11	2654	c.2446G>T	c.(2446-2448)Gac>Tac	p.D816Y	PKD1_ENST00000423118.1_Missense_Mutation_p.D816Y	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	816	PKD 2.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAGACCACGTCAAAGCTGCAG	0.682													6	8					0.00198382	0.00207671	1	0	A	2164578	C	A	2164578	3	1	72	1	0	0	0	0	1	0	0	0	12035	826	29	2	10609	2	PKD1	16	2164578	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	1425143	2164578	88190175	169	13809											
C16orf62	57020	broad.mit.edu	37	chr16	19612993	19612993	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cttttcctcccaggaaagctCgtgtacgagcgcatcttttc	7	13	8	13	3	1	0	0	0	1	0	5	2	3	1	2	1	3	3	2	1	2	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:19612993C>G	ENST00000438132.3	+	9	1047	c.999C>G	c.(997-999)ctC>ctG	p.L333L	C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000543152.1_5'UTR|C16orf62_ENST00000542263.1_Silent_p.L333L|C16orf62_ENST00000448695.1_Silent_p.L94L|C16orf62_ENST00000417362.2_Silent_p.L244L|C16orf62_ENST00000251143.5_Silent_p.L244L	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	244						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CAGGAAAGCTCGTGTACGAGC	0.483											OREG0023661	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	92					0	0	0	0	G	19612993	C	G	19612993	2	3	72	1	0	0	0	0	0	0	0	1	1838	871	31	3		3	C16orf62	16	19612993	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	17448415	19612993	70741760	170	13810											
RBBP6	5930	broad.mit.edu	37	chr16	24580864	24580864	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagggttttctgaacccAgagttattagagacttctag	11	13	11	6	0	2	4	0	2	2	2	2	5	2	4	1	1	1	2	1	1	4	6			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:24580864A>T	ENST00000319715.4	+	17	3285	c.2853A>T	c.(2851-2853)ccA>ccT	p.P951P	RBBP6_ENST00000348022.2_Silent_p.P917P|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	951					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTCTGAACCCAGAGTTATTAG	0.398													13	48					0	0	0	0	T	24580864	A	T	24580864	2	4	72	1	0	0	0	0	0	0	0	1	13185	175	7	5		5	RBBP6	16	24580864	Silent	SNP	A	TCGA-CN-4739-01A-02D-1512-08	4967871	24580864	65773889	171	13811											
ATXN2L	11273	broad.mit.edu	37	chr16	28840776	28840776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgaggagaactacggtGtgaagactacctatgatagc	14	9	11	7	1	1	5	1	3	0	2	1	6	1	5	1	2	4	0	1	2	7	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:28840776G>T	ENST00000336783.4	+	7	963	c.796G>T	c.(796-798)Gtg>Ttg	p.V266L	ATXN2L_ENST00000564304.1_Missense_Mutation_p.V266L|ATXN2L_ENST00000570200.1_Missense_Mutation_p.V266L|ATXN2L_ENST00000395547.2_Missense_Mutation_p.V266L|ATXN2L_ENST00000382686.4_Missense_Mutation_p.V266L|ATXN2L_ENST00000325215.6_Missense_Mutation_p.V266L|ATXN2L_ENST00000340394.8_Missense_Mutation_p.V266L	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	266						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAACTACGGTGTGAAGACTAC	0.463													23	79					1.10513e-12	1.34594e-12	1	0	T	28840776	G	T	28840776	3	4	72	1	0	0	0	0	1	0	0	0	1216	1377	48	4	822	4	ATXN2L	16	28840776	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	4259912	28840776	61513977	172	13812											
NOD2	64127	broad.mit.edu	37	chr16	50763774	50763774	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaggggcagaagccctcctGcaggcccttgaaaggaatga	11	6	13	11	0	0	3	0	2	0	1	1	4	1	4	3	4	2	2	3	4	4	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:50763774G>T	ENST00000300589.2	+	11	3117	c.3012G>T	c.(3010-3012)ctG>ctT	p.L1004L		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	1004					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AAGCCCTCCTGCAGGCCCTTG	0.478													12	59					1.05317e-09	1.24393e-09	1	0	T	50763774	G	T	50763774	2	4	72	1	0	0	0	0	0	0	0	1	10587	1306	46	4		4	NOD2	16	50763774	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	21922998	50763774	39590979	173	13813											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53686756	53686756	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaacttcagaagaaaaggTtactttgttgatatggattt	15	15	8	3	0	1	3	1	1	0	2	1	4	1	4	0	2	2	2	0	2	7	7	rs121918198		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:53686756T>A	ENST00000262135.4	-	15	1936	c.1843A>T	c.(1843-1845)Acc>Tcc	p.T615S	RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.T615S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.T615S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.T615S	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	615	C2 1.		T -> P (in JBTS7; affects interaction with NPHP4).		negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GAAGAAAAGGTTACTTTGTTG	0.373													10	116					0	0	0	0	A	53686756	T	A	53686756	3	1	72	1	0	0	0	0	1	0	0	0	13635	1725	60	5	2156	5	RPGRIP1L	16	53686756	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	2922982	53686756	36667997	174	13814											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53708989	53708989	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcattgcttttctctactagCtgtttatgaagcttaatcat	9	18	6	8	0	2	1	1	1	1	0	3	1	2	1	0	0	4	5	0	0	5	8			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:53708989C>T	ENST00000262135.4	-	7	915	c.822G>A	c.(820-822)caG>caA	p.Q274Q	RPGRIP1L_ENST00000379925.3_Silent_p.Q274Q|RPGRIP1L_ENST00000564374.1_Silent_p.Q274Q|RPGRIP1L_ENST00000563746.1_Silent_p.Q274Q	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	274					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTCTACTAGCTGTTTATGAA	0.323													7	107					0	0	0	0	T	53708989	C	T	53708989	2	4	72	1	0	0	0	0	0	0	0	1	13635	796	28	4		4	RPGRIP1L	16	53708989	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	22233	53708989	36645764	175	13815											
IRX6	79190	broad.mit.edu	37	chr16	55362806	55362806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgagagggccgattggagCgcagggagtgcggcctggct	6	6	19	10	4	0	1	0	0	0	1	1	5	0	3	2	5	2	2	2	5	0	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:55362806C>T	ENST00000290552.7	+	5	2248	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	306						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCGATTGGAGCGCAGGGAGTG	0.662													8	127					0	0	0	0	T	55362806	C	T	55362806	3	4	72	1	0	0	0	0	1	0	0	0	7901	768	27	1	934	1	IRX6	16	55362806	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	1653817	55362806	34991947	176	13816											
NUDT21	11051	broad.mit.edu	37	chr16	56481815	56481815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caattttatcaaattcttccCtcatgcgctgaaatctggct	10	15	5	11	1	4	1	2	1	2	0	5	1	5	1	1	1	1	2	1	1	4	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:56481815C>G	ENST00000300291.5	-	2	375	c.203G>C	c.(202-204)aGg>aCg	p.R68T		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	68	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						AAATTCTTCCCTCATGCGCTG	0.473													7	122					0	0	0	0	G	56481815	C	G	56481815	3	3	72	1	0	0	0	0	1	0	0	0	10809	681	24	4	504	4	NUDT21	16	56481815	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	1119009	56481815	33872938	177	13817											
PMFBP1	83449	broad.mit.edu	37	chr16	72188154	72188154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgcagaagaaccaggtCggaagtctgcttctctagga	11	9	13	8	1	2	2	0	0	2	2	4	4	2	4	1	4	3	2	1	4	4	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:72188154C>A	ENST00000537465.1	-	4	528	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.D124Y			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	124										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)				AGAACCAGGTCGGAAGTCTGC	0.448													84	259					9.36137e-61	1.27396e-60	1	0	A	72188154	C	A	72188154	3	1	72	1	0	0	0	0	1	0	0	0	12206	884	31	3	2785	3	PMFBP1	16	72188154	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	15706339	72188154	18166599	178	13818											
CDH15	1013	broad.mit.edu	37	chr16	89251724	89251724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagatccgcacagtgcaaGtggggctggaccgcgaggtg	9	5	18	9	3	0	1	0	0	0	1	1	5	1	2	2	4	1	3	2	4	1	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:89251724G>C	ENST00000289746.2	+	5	711	c.646G>C	c.(646-648)Gtg>Ctg	p.V216L		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	216	Cadherin 2.				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)		CACAGTGCAAGTGGGGCTGGA	0.697													7	15					0	0	0	0	C	89251724	G	C	89251724	3	2	72	1	0	0	0	0	1	0	0	0	3129	1029	36	4	664	4	CDH15	16	89251724	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	17063570	89251724	1103029	179	13819											
SGSM2	9905	broad.mit.edu	37	chr17	2281220	2281220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacttctacttctgttatCgctggttcctgctggatttt	4	18	7	12	1	2	0	0	0	2	0	4	1	3	1	2	2	2	4	2	2	2	7			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:2281220C>A	ENST00000268989.3	+	22	3049	c.2872C>A	c.(2872-2874)Cgc>Agc	p.R958S	SGSM2_ENST00000574563.1_Missense_Mutation_p.R913S|SGSM2_ENST00000426855.2_Missense_Mutation_p.R913S|RP1-59D14.5_ENST00000574290.1_RNA	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	913						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CTTCTGTTATCGCTGGTTCCT	0.507													4	100					0.014758	0.0151451	1	0	A	2281220	C	A	2281220	3	1	72	1	0	0	0	0	1	0	0	0	14310	884	31	3	2958	3	SGSM2	17	2281220	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08		2281220	78913990	180	13820											
TP53	7157	broad.mit.edu	37	chr17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcggaacatctcgaagcGctcacgcccacggatctgca	9	7	9	16	5	4	0	1	0	3	0	6	3	4	2	1	2	3	2	1	2	2	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTCGAAGCGCTCACGCCCA	0.522		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	12					0	0	0	0	A	7574018	G	A	7574018	3	1	72	1	0	0	0	0	1	0	0	0	16476	1087	38	1	180	1	TP53	17	7574018	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	5292798	7574018	73621192	181	13821											
CCDC42	146849	broad.mit.edu	37	chr17	8638909	8638909	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtcttgtagcgtgcaatCacctcatggatctcctcgaa	9	11	9	12	3	4	0	2	0	2	0	6	2	4	1	2	1	3	2	2	1	3	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:8638909C>A	ENST00000293845.3	-	5	739	c.513G>T	c.(511-513)gtG>gtT	p.V171V	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	171				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						AGCGTGCAATCACCTCATGGA	0.642													5	55					0.014758	0.0151451	1	0	A	8638909	C	A	8638909	2	1	72	1	0	0	0	0	0	0	0	1	2840	813	29	2		2	CCDC42	17	8638909	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	1064891	8638909	72556301	182	13822											
ERAL1	26284	broad.mit.edu	37	chr17	27185506	27185506	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctggtcatgaacaaggTgagcactacccacctgagga	11	8	11	11	0	1	3	1	3	0	0	2	4	2	4	3	3	3	1	3	3	3	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:27185506T>C	ENST00000254928.5	+	6	808		c.e6+2			NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1						ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			ATGAACAAGGTGAGCACTACC	0.547													62	155					0	0	0	0	C	27185506	T	C	27185506	5	2	72	1	0	0	0	0	0	0	1	0	5240	1710	59	5	735	5	ERAL1	17	27185506	Splice_Site	SNP	T	TCGA-CN-4739-01A-02D-1512-08	18546597	27185506	54009704	183	13823											
CCL8	6355	broad.mit.edu	37	chr17	32647835	32647835	+	Frame_Shift_Del	DEL	G	G	-																															ccacagcttcaagaccaaacGgggcaaggaggtctgtgctg																										TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:32647835delG	ENST00000394620.1	+	3	675	c.209delG	c.(208-210)cgfs	p.R70fs		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	70					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				AAGACCAAACGGGGCAAGGAG	0.502													7	71	---	---	---	---					-	32647835	G	-	32647835	7	5	72	1	0	1	0	1	0	0	0	0	2936	1116	39	0	219	0	CCL8	17	32647835	Frame_Shift_Del	DEL	G	TCGA-CN-4739-01A-02D-1512-08	5462329	32647835	48547375	184	13824											
SLFN5	162394	broad.mit.edu	37	chr17	33586236	33586236	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtcagctgctgctttatTtgatagaaagcggcttcagt	8	15	11	7	1	2	2	2	1	0	1	2	2	2	2	0	1	4	4	0	1	3	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:33586236T>G	ENST00000299977.4	+	2	675	c.527T>G	c.(526-528)tTt>tGt	p.F176C	SLFN5_ENST00000592325.1_Missense_Mutation_p.F176C|SLFN5_ENST00000542451.1_Missense_Mutation_p.F176C	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	176					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GCTGCTTTATTTGATAGAAAG	0.398													65	168					0	0	0	0	G	33586236	T	G	33586236	3	3	72	1	0	0	0	0	1	0	0	0	14825	1841	64	5	529	5	SLFN5	17	33586236	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	938401	33586236	47608974	185	13825											
CDK12	51755	broad.mit.edu	37	chr17	37673803	37673803	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgtctacgagaagaatTctctttgtgagtttggggaa	11	12	13	5	2	2	3	0	1	2	2	3	5	2	4	0	3	1	1	0	3	5	4			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:37673803T>C	ENST00000447079.4	+	10	2990	c.2957T>C	c.(2956-2958)tTc>tCc	p.F986S	CDK12_ENST00000430627.2_Missense_Mutation_p.F986S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	986	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CGAGAAGAATTCTCTTTGTGA	0.468			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			10	75					0	0	0	0	C	37673803	T	C	37673803	3	2	72	1	0	0	0	0	1	0	0	0	3157	1783	62	5	2995	5	CDK12	17	37673803	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	4087567	37673803	43521407	186	13826											
GHDC	84514	broad.mit.edu	37	chr17	40342689	40342689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagcagcttggcccccGcccactgccccactgcccgg	4	5	11	21	2	0	0	0	0	0	0	1	0	1	0	7	3	4	2	7	3	0	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:40342689G>A	ENST00000301671.8	-	7	1682	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	GHDC_ENST00000436923.2_Missense_Mutation_p.A414V|GHDC_ENST00000428494.2_Missense_Mutation_p.A375V|GHDC_ENST00000593209.1_Missense_Mutation_p.A414V|GHDC_ENST00000587427.1_Missense_Mutation_p.A414V|GHDC_ENST00000414034.3_Missense_Mutation_p.A414V			Q8N2G8	GHDC_HUMAN	GH3 domain containing	414						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTTGGCCCCCGCCCACTGCCC	0.627													4	56					0	0	0	0	A	40342689	G	A	40342689	3	1	72	1	0	0	0	0	1	0	0	0	6420	1087	38	1	452	1	GHDC	17	40342689	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	2668886	40342689	40852521	187	13827											
ASB16	92591	broad.mit.edu	37	chr17	42254108	42254109	+	Frame_Shift_Del	DEL	GC	GC	-																															ttgctctcttgtccccaggtGcgccaagttgctgctggaag																										TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:42254108_42254109delGC	ENST00000293414.1	+	3	656_657	c.572_573delGC	c.(571-573)tfs	p.C191fs	ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000585457.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	191					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GTCCCCAGGTGCGCCAAGTTGC	0.639													48	146	---	---	---	---					-	42254109	GC	-	42254108	7	5	72	1	0	1	0	1	0	0	0	0	1024	1319	46	0	582	0	ASB16	17	42254108	Frame_Shift_Del	DEL	GC	TCGA-CN-4739-01A-02D-1512-08	1911419	42254108	38941102	188	13828											
ANKRD40	91369	broad.mit.edu	37	chr17	48777946	48777946	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcccataatcttcctgAtttctctccttgatgttaac	8	16	3	14	0	2	2	0	2	2	0	6	2	5	2	4	0	1	1	4	0	2	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:48777946A>G	ENST00000285243.6	-	2	535	c.266T>C	c.(265-267)aTc>aCc	p.I89T		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	89										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			AATCTTCCTGATTTCTCTCCT	0.418													46	130					0	0	0	0	G	48777946	A	G	48777946	3	3	72	1	0	0	0	0	1	0	0	0	668	333	12	5	856	5	ANKRD40	17	48777946	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	6523838	48777946	32417264	189	13829											
MRC2	9902	broad.mit.edu	37	chr17	60759630	60759630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggtgcctgacagccttGccctacatctgcaagcgcag	9	7	11	14	1	1	2	0	1	1	1	1	2	1	2	3	1	6	2	3	1	2	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:60759630G>T	ENST00000303375.5	+	20	3240	c.2838G>T	c.(2836-2838)ttG>ttT	p.L946F	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	946	C-type lectin 5.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGACAGCCTTGCCCTACATCT	0.657													14	12					1.05317e-09	1.24393e-09	1	0	T	60759630	G	T	60759630	3	4	72	1	0	0	0	0	1	0	0	0	9828	1310	46	4	2916	4	MRC2	17	60759630	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	11981684	60759630	20435580	190	13830											
ABCA10	10349	broad.mit.edu	37	chr17	67218723	67218723	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggattctatatccccaattAaacttcaggcgatatgagaa	14	11	8	8	1	2	1	1	1	1	1	3	4	3	2	2	2	1	0	2	2	7	6			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:67218723A>G	ENST00000269081.4	-	5	1059	c.150T>C	c.(148-150)ttT>ttC	p.F50F	ABCA10_ENST00000423818.2_Silent_p.F50F|ABCA10_ENST00000416101.2_Silent_p.F50F|ABCA10_ENST00000432313.2_Silent_p.F50F	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	50					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATCCCCAATTAAACTTCAGGC	0.333													91	106					0	0	0	0	G	67218723	A	G	67218723	2	3	72	1	0	0	0	0	0	0	0	1	29	359	13	5		5	ABCA10	17	67218723	Silent	SNP	A	TCGA-CN-4739-01A-02D-1512-08	6459093	67218723	13976487	191	13831											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282368	71282368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgctcccccctggtcaccGactgtgaccgcttgctgccc	3	8	9	21	3	1	1	1	1	0	0	2	2	2	1	7	1	2	3	7	1	0	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:71282368G>A	ENST00000335793.3	-	2	666	c.272C>T	c.(271-273)tCg>tTg	p.S91L	CDC42EP4_ENST00000439510.2_Intron|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	91					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCTGGTCACCGACTGTGACCG	0.632													23	57					0	0	0	0	A	71282368	G	A	71282368	3	1	72	1	0	0	0	0	1	0	0	0	3107	1059	37	1	802	1	CDC42EP4	17	71282368	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	4063645	71282368	9912842	192	13832											
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74569350	74569350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcctccgttgcccaccaCggcacaccggatacactttg	9	8	8	16	3	0	0	0	0	0	0	1	1	1	1	5	2	3	2	5	2	2	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:74569350C>T	ENST00000225276.5	-	4	776	c.457G>A	c.(457-459)Gtg>Atg	p.V153M	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	153					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TTGCCCACCACGGCACACCGG	0.607													5	26					0	0	0	0	T	74569350	C	T	74569350	3	4	72	1	0	0	0	0	1	0	0	0	15314	536	19	1	691	1	ST6GALNAC2	17	74569350	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	3286982	74569350	6625860	193	13833											
CARD14	79092	broad.mit.edu	37	chr17	78175565	78175565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgattacgaagcctcagagcCcttgttcaaggcagtcctgg	9	10	11	11	1	2	2	2	1	0	1	3	3	3	2	3	2	3	2	3	2	3	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:78175565C>T	ENST00000573882.1	+	16	2410	c.1874C>T	c.(1873-1875)cCc>cTc	p.P625L	CARD14_ENST00000570421.1_Missense_Mutation_p.P625L|CARD14_ENST00000392434.2_Intron|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA|CARD14_ENST00000344227.2_Missense_Mutation_p.P625L			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	625	PDZ.			DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326).	activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCCTCAGAGCCCTTGTTCAAG	0.597													4	104					0	0	0	0	T	78175565	C	T	78175565	3	4	72	1	0	0	0	0	1	0	0	0	2671	623	22	4	2089	4	CARD14	17	78175565	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	3606215	78175565	3019645	194	13834											
RNF213	57674	broad.mit.edu	37	chr17	78313928	78313928	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgcacgcagcagcacCgagaagactaccagctcgtc	11	6	10	14	3	1	2	0	0	1	2	3	3	1	2	2	0	5	5	2	0	2	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:78313928C>A	ENST00000582970.1	+	26	5904	c.5761C>A	c.(5761-5763)Cga>Aga	p.R1921R	RNF213_ENST00000508628.2_Silent_p.R1970R	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGCAGCACCGAGAAGACTA	0.607													18	23					0.00498961	0.00520582	1	0	A	78313928	C	A	78313928	2	1	72	1	0	0	0	0	0	0	0	1	13562	644	23	3		3	RNF213	17	78313928	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	138363	78313928	2881282	195	13835											
TUBB6	84617	broad.mit.edu	37	chr18	12325643	12325643	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtaccgggccctgacCgtgcccgagctcacccagca	8	4	11	18	3	1	1	1	1	0	0	1	2	1	1	5	1	5	4	5	1	1	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr18:12325643C>A	ENST00000317702.5	+	4	1089	c.855C>A	c.(853-855)acC>acA	p.T285T	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	285					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GGGCCCTGACCGTGCCCGAGC	0.687													13	38					0.000132079	0.000141095	1	0	A	12325643	C	A	12325643	2	1	72	1	0	0	0	0	0	0	0	1	16856	639	23	3		3	TUBB6	18	12325643	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08		12325643	65751605	196	13836											
DTNA	1837	broad.mit.edu	37	chr18	32345948	32345948	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagatctggatcgcatcCgactctccacctacagaaca	12	8	6	15	2	3	2	1	0	2	2	6	4	4	3	3	1	2	1	3	1	3	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr18:32345948C>T	ENST00000283365.9	+	4	442	c.91C>T	c.(91-93)Cga>Tga	p.R31*	DTNA_ENST00000596745.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000444659.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000399113.3_Nonsense_Mutation_p.R31*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.R31*|DTNA_ENST00000598142.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000554864.3_Nonsense_Mutation_p.R31*|DTNA_ENST00000269191.6_Nonsense_Mutation_p.R31*|DTNA_ENST00000315456.6_Nonsense_Mutation_p.R31*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.R31*|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000598774.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000348997.5_Nonsense_Mutation_p.R31*|DTNA_ENST00000399121.5_Nonsense_Mutation_p.R31*	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	31	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GGATCGCATCCGACTCTCCAC	0.408													8	77					0	0	0	0	T	32345948	C	T	32345948	4	4	72	1	0	0	0	0	0	1	0	0	4824	644	23	1	97	1	DTNA	18	32345948	Nonsense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	20020305	32345948	45731300	197	13837											
ABCA7	10347	broad.mit.edu	37	chr19	1042123	1042123	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggccagtgcccacaggacGctggctggcctagggaagct	7	5	17	12	1	0	0	0	0	0	0	0	2	0	2	3	6	2	3	3	6	2	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:1042123G>T	ENST00000263094.6	+	5	594	c.363G>T	c.(361-363)acG>acT	p.T121T	ABCA7_ENST00000433129.1_Silent_p.T121T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	121					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CCCACAGGACGCTGGCTGGCC	0.716													4	12					0.000602214	0.000634657	1	0	T	1042123	G	T	1042123	2	4	72	1	0	0	0	0	0	0	0	1	37	1074	38	3		3	ABCA7	19	1042123	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08		1042123	58086860	198	13838											
DIRAS1	148252	broad.mit.edu	37	chr19	2717400	2717400	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactcctgggccaccgcctgCgcctcgcgcgtgtccacctc	3	7	10	21	5	0	0	0	0	0	0	4	0	2	0	7	1	1	0	7	1	0	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:2717400C>G	ENST00000323469.4	-	2	588	c.405G>C	c.(403-405)gcG>gcC	p.A135A	DIRAS1_ENST00000585334.1_Silent_p.A135A	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	135					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		CCACCGCCTGCGCCTCGCGCG	0.617													25	76					0	0	0	0	G	2717400	C	G	2717400	2	3	72	1	0	0	0	0	0	0	0	1	4567	755	27	3		3	DIRAS1	19	2717400	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	1675277	2717400	56411583	199	13839											
TLE2	7089	broad.mit.edu	37	chr19	3009612	3009612	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgacgtaggagctgggCacggagaggtctccgttgag	8	7	18	8	3	1	3	0	2	1	1	2	5	1	4	1	5	1	5	1	5	1	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:3009612C>A	ENST00000262953.6	-	13	1363	c.1101G>T	c.(1099-1101)gtG>gtT	p.V367V	TLE2_ENST00000455444.2_Silent_p.V245V|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000591529.1_Silent_p.V381V|TLE2_ENST00000426948.2_Silent_p.V381V|TLE2_ENST00000590536.1_Silent_p.V368V|TLE2_ENST00000443826.3_Silent_p.V245V|TLE2_ENST00000447365.2_Intron	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	367	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		AGGAGCTGGGCACGGAGAGGT	0.662													3	23					0.00909568	0.00939587	1	0	A	3009612	C	A	3009612	2	1	72	1	0	0	0	0	0	0	0	1	16033	697	25	4		4	TLE2	19	3009612	Silent	SNP	C	TCGA-CN-4739-01A-02D-1512-08	292212	3009612	56119371	200	13840											
GIPC3	126326	broad.mit.edu	37	chr19	3589862	3589862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaggaggcatctcggaagGttgatgacctgctggaaagc	11	7	16	7	1	1	2	0	2	1	0	2	6	1	6	1	6	2	3	1	6	2	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:3589862G>T	ENST00000322315.5	+	5	784	c.739G>T	c.(739-741)Gtt>Ttt	p.V247F		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	247										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTCGGAAGGTTGATGACCT	0.652													35	189					2.95478e-19	3.80595e-19	1	0	T	3589862	G	T	3589862	3	4	72	1	0	0	0	0	1	0	0	0	6445	1261	44	4	757	4	GIPC3	19	3589862	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	580250	3589862	55539121	201	13841											
TMIGD2	126259	broad.mit.edu	37	chr19	4292863	4292863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccggggccggtataggacGttgctgtagaatgcatttcc	7	10	13	11	3	0	1	0	0	0	1	1	2	1	2	4	4	2	5	4	4	4	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:4292863G>A	ENST00000301272.2	-	5	627	c.582C>T	c.(580-582)aaC>aaT	p.N194N	TMIGD2_ENST00000600349.1_Silent_p.N22N|TMIGD2_ENST00000600114.1_Silent_p.N74N|TMIGD2_ENST00000595645.1_Silent_p.N190N	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	194						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTATAGGACGTTGCTGTAGA	0.562													24	134					0	0	0	0	A	4292863	G	A	4292863	2	1	72	1	0	0	0	0	0	0	0	1	16325	1136	40	1		1	TMIGD2	19	4292863	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	703001	4292863	54836120	202	13842											
MUC16	94025	broad.mit.edu	37	chr19	9062982	9062982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaggaggtgacttctgtcCtggagacttcagcagtggca	9	10	14	8	0	2	3	1	1	1	2	3	5	3	4	1	4	1	2	1	4	1	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:9062982C>A	ENST00000397910.4	-	3	24667	c.24464G>T	c.(24463-24465)aGg>aTg	p.R8155M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8157	Ser-rich.|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						GACTTCTGTCCTGGAGACTTC	0.547													30	140					2.46105e-21	3.1963e-21	1	0	A	9062982	C	A	9062982	3	1	72	1	0	0	0	0	1	0	0	0	10043	681	24	4	19387	4	MUC16	19	9062982	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	4770119	9062982	50066001	203	13843											
ZNF440	126070	broad.mit.edu	37	chr19	11943025	11943025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttatgaatgtaagatatGtggaaaagacttttgttctg	13	15	9	4	0	1	3	0	1	1	2	1	4	1	4	1	1	0	2	1	1	6	6			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:11943025G>A	ENST00000304060.5	+	4	1198	c.1034G>A	c.(1033-1035)tGt>tAt	p.C345Y		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGTAAGATATGTGGAAAAGAC	0.363													17	70					0	0	0	0	A	11943025	G	A	11943025	3	1	72	1	0	0	0	0	1	0	0	0	18008	1377	48	4	1048	4	ZNF440	19	11943025	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	2880043	11943025	47185958	204	13844											
ZNF493	284443	broad.mit.edu	37	chr19	21587932	21587932	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtgtgtgtttgtttcaggGgccgttgacatttagggatg	5	17	15	4	1	1	1	1	1	0	0	1	2	1	2	1	3	0	3	1	3	1	6			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:21587932G>A	ENST00000392288.2	+	2	141	c.30_splice	c.e2-1	p.G11_splice	ZNF493_ENST00000594390.1_Splice_Site_p.G11_splice|ZNF493_ENST00000339914.6_Splice_Site_p.G11_splice|ZNF493_ENST00000596302.1_Splice_Site_p.G11_splice|ZNF493_ENST00000355504.4_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ttgtTTCAGGGGCCGTTGACA	0.413													33	106					0	0	0	0	A	21587932	G	A	21587932	5	1	72	1	0	0	0	0	0	0	1	0	18039	1246	43	4	38	4	ZNF493	19	21587932	Splice_Site	SNP	G	TCGA-CN-4739-01A-02D-1512-08	9644907	21587932	37541051	205	13845											
ZNF536	9745	broad.mit.edu	37	chr19	30935280	30935280	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaggacgcggtggccccgGcggcgggcttccgctgtacc	4	5	18	14	6	0	0	0	0	0	0	1	2	1	2	4	7	1	3	4	7	1	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:30935280G>C	ENST00000355537.3	+	2	958	c.811G>C	c.(811-813)Gcg>Ccg	p.A271P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGTGGCCCCGGCGGCGGGCTT	0.672													7	23					0	0	0	0	C	30935280	G	C	30935280	3	2	72	1	0	0	0	0	1	0	0	0	18069	1203	42	4	813	4	ZNF536	19	30935280	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	9347348	30935280	28193703	206	13846											
ZNF30	90075	broad.mit.edu	37	chr19	35434153	35434153	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttggaagatgatacaatcGgctgtaaagaaatgcccacc	15	8	10	8	1	0	3	0	1	0	2	1	4	0	4	2	2	2	3	2	2	6	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:35434153G>C	ENST00000439785.1	+	5	730	c.286G>C	c.(286-288)Ggc>Cgc	p.G96R	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.G95R|ZNF30_ENST00000426813.2_Missense_Mutation_p.G14R|ZNF30_ENST00000303586.7_Missense_Mutation_p.G96R	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TGATACAATCGGCTGTAAAGA	0.323													6	20					0	0	0	0	C	35434153	G	C	35434153	3	2	72	1	0	0	0	0	1	0	0	0	17925	1116	39	3	300	3	ZNF30	19	35434153	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	4498873	35434153	23694830	207	13847											
RYR1	6261	broad.mit.edu	37	chr19	38976768	38976768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcgcgacggtgggcagCacgctcgcgaccccgtcggg	4	4	18	15	9	0	0	0	0	0	0	2	2	0	0	2	4	2	3	2	4	0	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:38976768C>T	ENST00000355481.4	+	34	5604	c.5473C>T	c.(5473-5475)Cac>Tac	p.H1825Y	RYR1_ENST00000360985.3_Missense_Mutation_p.H1825Y|RYR1_ENST00000359596.3_Missense_Mutation_p.H1825Y	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1825	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGGTGGGCAGCACGCTCGCGA	0.687													63	168					0	0	0	0	T	38976768	C	T	38976768	3	4	72	1	0	0	0	0	1	0	0	0	13853	710	25	4	5607	4	RYR1	19	38976768	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	3542615	38976768	20152215	208	13848											
ACTN4	81	broad.mit.edu	37	chr19	39215092	39215092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcagctggtgccaaaaCgggaccatgccctcctggag	9	6	13	13	1	0	0	0	0	0	0	1	2	1	2	4	3	6	3	4	3	2	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:39215092C>T	ENST00000252699.2	+	16	1973	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	ACTN4_ENST00000390009.3_Missense_Mutation_p.R414W|ACTN4_ENST00000424234.2_Missense_Mutation_p.R243W	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	633					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTGCCAAAACGGGACCATGC	0.687													7	33					0	0	0	0	T	39215092	C	T	39215092	3	4	72	1	0	0	0	0	1	0	0	0	207	527	19	1	1959	1	ACTN4	19	39215092	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	238324	39215092	19913891	209	13849											
GRIN2D	2906	broad.mit.edu	37	chr19	48908443	48908443	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgccgggctgtttgcAgtgcgctcggctggctggcg	1	10	17	13	4	0	0	0	0	0	0	1	0	0	0	2	4	4	6	2	4	0	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:48908443A>C	ENST00000263269.3	+	3	1006	c.918A>C	c.(916-918)gcA>gcC	p.A306A		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	306						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GGCTGTTTGCAGTGCGCTCGG	0.716													3	13					0	0	0	0	C	48908443	A	C	48908443	2	2	72	1	0	0	0	0	0	0	0	1	6832	175	7	5		5	GRIN2D	19	48908443	Silent	SNP	A	TCGA-CN-4739-01A-02D-1512-08	9693351	48908443	10220540	210	13850											
PLEKHA4	57664	broad.mit.edu	37	chr19	49340739	49340739	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggggggaggggtctccTggcgcgtggggtccgaagga	5	7	21	8	3	2	0	0	0	2	0	4	3	3	2	2	9	0	0	2	9	1	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:49340739T>G	ENST00000263265.6	-	20	2702	c.2147A>C	c.(2146-2148)cAg>cCg	p.Q716P	PLEKHA4_ENST00000355496.5_3'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	716						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGGGGTCTCCTGGCGCGTGGG	0.667													27	80					0	0	0	0	G	49340739	T	G	49340739	3	3	72	1	0	0	0	0	1	0	0	0	12130	1580	55	5	196	5	PLEKHA4	19	49340739	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	432296	49340739	9788244	211	13851											
LRRC4B	94030	broad.mit.edu	37	chr19	51021898	51021898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcatagcaggtgaaatGcgactggtccagctccccaa	10	6	13	12	2	0	1	0	1	0	0	2	2	2	1	3	3	3	3	3	3	3	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:51021898G>T	ENST00000599957.1	-	3	1269	c.1072C>A	c.(1072-1074)Cat>Aat	p.H358N	LRRC4B_ENST00000389201.3_Missense_Mutation_p.H358N			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	358	LRRCT.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CAGGTGAAATGCGACTGGTCC	0.667													16	51					2.48551e-13	3.05084e-13	1	0	T	51021898	G	T	51021898	3	4	72	1	0	0	0	0	1	0	0	0	9071	1319	46	4	1073	4	LRRC4B	19	51021898	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	1681159	51021898	8107085	212	13852											
FPR1	2357	broad.mit.edu	37	chr19	52249531	52249531	+	Frame_Shift_Del	DEL	G	G	-																															acaaaggagaggacccgtaaGggacgactggacttaatcaa																										TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:52249531delG	ENST00000595042.1	-	3	858	c.717delC	c.(715-717)ccfs	p.P239fs	FPR1_ENST00000304748.4_Frame_Shift_Del_p.P239fs	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	239					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGACCCGTAAGGGACGACTGG	0.512													31	85	---	---	---	---					-	52249531	G	-	52249531	7	5	72	1	0	1	0	1	0	0	0	0	6085	987	35	0	339	0	FPR1	19	52249531	Frame_Shift_Del	DEL	G	TCGA-CN-4739-01A-02D-1512-08	1227633	52249531	6879452	213	13853											
PPP1R12C	54776	broad.mit.edu	37	chr19	55606107	55606107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgctggggattcaggctccGgaatcctggagggaggcgag	7	7	18	9	3	1	0	1	0	0	0	4	5	3	4	2	7	0	2	2	7	1	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:55606107G>A	ENST00000263433.3	-	12	1529	c.1514C>T	c.(1513-1515)cCg>cTg	p.P505L	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.P505L|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.P431L	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	505	Pro-rich.					cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TTCAGGCTCCGGAATCCTGGA	0.612													8	11					0	0	0	0	A	55606107	G	A	55606107	3	1	72	1	0	0	0	0	1	0	0	0	12432	1116	39	1	878	1	PPP1R12C	19	55606107	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	3356576	55606107	3522876	214	13854											
NLRP8	126205	broad.mit.edu	37	chr19	56466303	56466303	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctttgaggagctcacatcTaccctcattgacagactgga	10	10	10	11	0	3	3	2	2	1	1	3	5	3	5	1	3	2	2	1	3	1	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:56466303T>A	ENST00000291971.3	+	3	950	c.879T>A	c.(877-879)tcT>tcA	p.S293S	NLRP8_ENST00000590542.1_Silent_p.S293S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	293	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGCTCACATCTACCCTCATTG	0.507													52	229					0	0	0	0	A	56466303	T	A	56466303	2	1	72	1	0	0	0	0	0	0	0	1	10553	1509	53	5		5	NLRP8	19	56466303	Silent	SNP	T	TCGA-CN-4739-01A-02D-1512-08	860196	56466303	2662680	215	13855											
NLRP5	126206	broad.mit.edu	37	chr19	56552287	56552287	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggctctcttcttgcaGactggaggactgtggcatca	6	12	13	10	0	4	1	1	0	3	1	5	3	4	3	0	5	1	3	0	5	0	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:56552287G>T	ENST00000390649.3	+	11	2786		c.e11-1			NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5							mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTTCTTGCAGACTGGAGGAC	0.542													14	50					1.49906e-05	1.64058e-05	1	0	T	56552287	G	T	56552287	5	4	72	1	0	0	0	0	0	0	1	0	10550	956	33	2	2828	2	NLRP5	19	56552287	Splice_Site	SNP	G	TCGA-CN-4739-01A-02D-1512-08	85984	56552287	2576696	216	13856											
ZNF135	7694	broad.mit.edu	37	chr19	58579484	58579484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagcatcagaggatccaCacaggagagaaaccctatga	16	6	9	10	0	2	3	2	1	0	2	3	6	3	5	2	2	2	1	2	2	2	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:58579484C>A	ENST00000506786.1	+	5	2060	c.1506C>A	c.(1504-1506)caC>caA	p.H502Q	ZNF135_ENST00000439855.2_Missense_Mutation_p.H544Q|ZNF135_ENST00000401053.4_Missense_Mutation_p.H568Q|ZNF135_ENST00000511556.1_Missense_Mutation_p.H556Q|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.H544Q			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	556					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGAGGATCCACACAGGAGAGA	0.532													22	79					2.89027e-11	3.46611e-11	1	0	A	58579484	C	A	58579484	3	1	72	1	0	0	0	0	1	0	0	0	17820	477	17	4	1835	4	ZNF135	19	58579484	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	2027197	58579484	549499	217	13857											
CSNK2A1	1457	broad.mit.edu	37	chr20	485836	485836	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttcactgtatttacctcGgcctaattttcgaaccagct	9	15	5	12	2	1	0	1	0	0	0	3	1	1	0	3	1	4	2	3	1	5	8			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:485836G>A	ENST00000217244.3	-	4	514	c.139C>T	c.(139-141)Cga>Tga	p.R47*	CSNK2A1_ENST00000400217.1_5'UTR|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R47*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R47*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	47	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TATTTACCTCGGCCTAATTTT	0.343													17	67					0	0	0	0	A	485836	G	A	485836	4	1	72	1	0	0	0	0	0	1	0	0	3989	1124	39	1	1080	1	CSNK2A1	20	485836	Nonsense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08		485836	62539684	218	13858											
SLC4A11	83959	broad.mit.edu	37	chr20	3209785	3209785	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggccaccaagttctgctcGatgaagaagagcatggacag	12	6	13	10	2	1	3	0	1	1	2	2	5	1	4	2	2	2	3	2	2	3	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:3209785G>A	ENST00000380059.3	-	16	2204	c.2103C>T	c.(2101-2103)atC>atT	p.I701I	SLC4A11_ENST00000380056.3_Silent_p.I674I|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.I658I	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	674	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGTTCTGCTCGATGAAGAAGA	0.667													12	77					0	0	0	0	A	3209785	G	A	3209785	2	1	72	1	0	0	0	0	0	0	0	1	14740	1048	37	1		1	SLC4A11	20	3209785	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	2723949	3209785	59815735	219	13859											
PLCB4	5332	broad.mit.edu	37	chr20	9417742	9417742	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgacccctcagagtagcTctgagctcagaccaaccacc	11	7	8	15	0	3	4	2	2	1	2	3	4	3	4	5	0	3	3	5	0	2	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:9417742T>A	ENST00000378501.2	+	26	2686	c.2671T>A	c.(2671-2673)Tct>Act	p.S891T	PLCB4_ENST00000334005.3_Missense_Mutation_p.S891T|PLCB4_ENST00000278655.4_Missense_Mutation_p.S891T|PLCB4_ENST00000414679.2_Missense_Mutation_p.S903T|PLCB4_ENST00000378473.3_Missense_Mutation_p.S903T|PLCB4_ENST00000378493.1_Missense_Mutation_p.S891T|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	891					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCAGAGTAGCTCTGAGCTCAG	0.542													7	64					0	0	0	0	A	9417742	T	A	9417742	3	1	72	1	0	0	0	0	1	0	0	0	12102	1551	54	5	2813	5	PLCB4	20	9417742	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	6207957	9417742	53607778	220	13860											
XKR7	343702	broad.mit.edu	37	chr20	30584546	30584546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgcgtcatgaccttctgGgtcatccaaggggagacgga	8	9	15	9	2	3	2	2	1	1	1	4	4	4	3	2	5	1	0	2	5	1	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:30584546G>T	ENST00000217299.3	+	3	1200	c.1026G>T	c.(1024-1026)tgG>tgT	p.W342C		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	342						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGACCTTCTGGGTCATCCAAG	0.562													7	68					8.12818e-05	8.71275e-05	1	0	T	30584546	G	T	30584546	3	4	72	1	0	0	0	0	1	0	0	0	17532	1241	43	4	1036	4	XKR7	20	30584546	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	21166804	30584546	32440974	221	13861											
MC3R	4159	broad.mit.edu	37	chr20	54824142	54824142	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctttctctgcagcctggcGgtggccgacatgctggtaag	5	12	13	11	2	2	0	0	0	2	0	3	1	2	0	2	4	3	3	2	4	1	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:54824142G>A	ENST00000243911.2	+	1	355	c.243G>A	c.(241-243)gcG>gcA	p.A81A		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	118			V -> I (have ligand binding and signaling properties similar to wild-type; dbSNP:rs3827103).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GCAGCCTGGCGGTGGCCGACA	0.567													6	85					0	0	0	0	A	54824142	G	A	54824142	2	1	72	1	0	0	0	0	0	0	0	1	9434	1103	39	1		1	MC3R	20	54824142	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	24239596	54824142	8201378	222	13862											
BAGE2	85319	broad.mit.edu	37	chr21	11098727	11098727	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagccgccatcttactgctCcggccgccatcttactgctc	5	10	7	19	3	2	0	0	0	2	0	4	0	3	0	6	1	5	2	6	1	2	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr21:11098727C>A	ENST00000470054.1	-	0	198									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tcttactgctccggccgccat	0.627													20	62					3.5997e-14	4.47105e-14	1	0	A	11098727	C	A	11098727	1	1	72	0	1	0	0	0	0	0	0	0	1296	855	30	2		2	BAGE2	21	11098727	RNA	SNP	C	TCGA-CN-4739-01A-02D-1512-08		11098727	37031168	223	13863											
ERG	2078	broad.mit.edu	37	chr21	39755448	39755448	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaactggaagatgtcacGgggagggctggagggtgggg	12	5	20	4	1	1	1	1	0	0	1	1	4	1	4	0	8	1	1	0	8	4	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr21:39755448G>A	ENST00000442448.1	-	11	1537	c.1266C>T	c.(1264-1266)ccC>ccT	p.P422P	ERG_ENST00000398910.1_Silent_p.P423P|ERG_ENST00000288319.7_Silent_p.P439P|ERG_ENST00000398911.1_Silent_p.P422P|ERG_ENST00000417133.2_Silent_p.P446P|ERG_ENST00000398897.1_Silent_p.P323P|ERG_ENST00000398907.1_Silent_p.P416P|ERG_ENST00000453032.2_Silent_p.P347P|ERG_ENST00000398919.2_Silent_p.P446P|ERG_ENST00000398905.1_Silent_p.P415P	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	446					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AAGATGTCACGGGGAGGGCTG	0.552			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								18	40					0	0	0	0	A	39755448	G	A	39755448	2	1	72	1	0	0	0	0	0	0	0	1	5260	1103	39	1		1	ERG	21	39755448	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	28656721	39755448	8374447	224	13864											
CECR5	27440	broad.mit.edu	37	chr22	17619593	17619593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtcactttctggtaaatgGtttccaggcacagcagaaag	11	10	10	10	1	2	1	1	0	1	1	3	1	3	1	2	3	1	4	2	3	3	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:17619593G>A	ENST00000336737.4	-	7	807	c.782C>T	c.(781-783)aCc>aTc	p.T261I	CECR5_ENST00000155674.5_Missense_Mutation_p.T231I|CECR5_ENST00000399852.3_Intron	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	261							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CTGGTAAATGGTTTCCAGGCA	0.542													77	218					0	0	0	0	A	17619593	G	A	17619593	3	1	72	1	0	0	0	0	1	0	0	0	3236	1261	44	4	497	4	CECR5	22	17619593	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08		17619593	33684973	225	13865											
CCDC116	164592	broad.mit.edu	37	chr22	21989393	21989393	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccacctcagatctgccGcctctgggctctgagccagc	6	7	11	17	1	4	2	1	1	3	1	4	3	4	2	5	1	4	1	5	1	0	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:21989393G>A	ENST00000292779.3	+	4	1202	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	347										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CAGATCTGCCGCCTCTGGGCT	0.642													14	46					0	0	0	0	A	21989393	G	A	21989393	2	1	72	1	0	0	0	0	0	0	0	1	2778	1074	38	1		1	CCDC116	22	21989393	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	4369800	21989393	29315173	226	13866											
IGLL5	100423062	broad.mit.edu	37	chr22	23237592	23237592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactgtcactctgttcccGccctcctctgaggagctcca	5	10	7	19	1	3	1	1	1	2	0	6	2	6	2	5	1	1	2	5	1	0	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:23237592G>T	ENST00000531372.1	+	2	469	c.244G>T	c.(244-246)Gcc>Tcc	p.A82S	IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000532223.1_Silent_p.P122P|IGLL5_ENST00000526893.1_Silent_p.P121P	NM_001256296.1	NP_001243225.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	0						extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CTCTGTTCCCGCCCTCCTCTG	0.602													7	31					8.12818e-05	8.71275e-05	1	0	T	23237592	G	T	23237592	3	4	72	1	0	0	0	0	1	0	0	0	7647	1074	38	3	373	3	IGLL5	22	23237592	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	1248199	23237592	28066974	227	13867											
ELFN2	114794	broad.mit.edu	37	chr22	37769205	37769205	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccttcttgcgcagggcGtgaccggcggccatgtacac	6	8	14	13	4	1	1	0	1	1	0	1	2	1	2	3	4	2	2	3	4	1	3	rs148494870	by1000genomes	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:37769205G>A	ENST00000402918.1	-	3	3155	c.2370C>T	c.(2368-2370)caC>caT	p.H790H	ELFN2_ENST00000349653.3_Silent_p.H790H|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	790						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGCGCAGGGCGTGACCGGCGG	0.627													10	118					0	0	0	0	A	37769205	G	A	37769205	2	1	72	1	0	0	0	0	0	0	0	1	5096	1136	40	1		1	ELFN2	22	37769205	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	14531613	37769205	13535361	228	13868											
SH3KBP1	30011	broad.mit.edu	37	chrX	19725001	19725001	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccggccaggtcgcttacctCtcctaccacctctatgatgt	6	11	7	17	2	2	1	0	1	2	0	4	1	2	1	6	2	2	1	6	2	3	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:19725001C>G	ENST00000397821.3	-	4	678	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E130Q|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E93Q	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	130	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCGCTTACCTCTCCTACCACC	0.582													17	25					0	0	0	0	G	19725001	C	G	19725001	3	3	72	1	0	0	0	0	1	0	0	0	14343	922	32	2	1685	2	SH3KBP1	23	19725001	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08		19725001	135545559	229	13869											
FAM47B	170062	broad.mit.edu	37	chrX	34962575	34962575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcattcttatagtgcacagCgtgggaggataaggtatgga	11	10	14	6	2	1	0	0	0	1	0	1	3	1	3	0	4	2	3	0	4	4	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:34962575C>A	ENST00000329357.5	+	1	1663	c.1627C>A	c.(1627-1629)Cgt>Agt	p.R543S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	543										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TAGTGCACAGCGTGGGAGGAT	0.498													45	53					8.05343e-35	1.07723e-34	1	0	A	34962575	C	A	34962575	3	1	72	1	0	0	0	0	1	0	0	0	5617	768	27	3	1629	3	FAM47B	23	34962575	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	15237574	34962575	120307985	230	13870											
PRRG1	5638	broad.mit.edu	37	chrX	37285132	37285132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccaattccatattaaaacGctacccaagagctaatgggt	15	9	7	10	1	0	1	0	0	0	1	1	1	1	1	3	1	4	2	3	1	7	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:37285132G>A	ENST00000542554.1	+	4	322	c.50G>A	c.(49-51)cGc>cAc	p.R17H	PRRG1_ENST00000543642.1_Missense_Mutation_p.R17H|PRRG1_ENST00000449135.2_Missense_Mutation_p.R17H|TM4SF2_ENST00000465127.1_Missense_Mutation_p.R17H|PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000378628.4_Missense_Mutation_p.R17H|PRRG1_ENST00000463135.1_Missense_Mutation_p.R17H	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	17						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						ATATTAAAACGCTACCCAAGA	0.358													4	51					0	0	0	0	A	37285132	G	A	37285132	3	1	72	1	0	0	0	0	1	0	0	0	12684	1087	38	1	56	1	PRRG1	23	37285132	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	2322557	37285132	117985428	231	13871											
FOXP3	50943	broad.mit.edu	37	chrX	49107877	49107877	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcatccacggtccacAcagcccccttctcgctctcc	6	8	5	22	2	3	0	1	0	2	0	7	0	5	0	6	1	2	2	6	1	0	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:49107877A>C	ENST00000376207.4	-	12	1401	c.1214T>G	c.(1213-1215)gTg>gGg	p.V405G	FOXP3_ENST00000376199.2_Missense_Mutation_p.V370G|FOXP3_ENST00000376197.1_Missense_Mutation_p.V415G|FOXP3_ENST00000518685.1_Missense_Mutation_p.V370G|FOXP3_ENST00000455775.2_Missense_Mutation_p.V378G|FOXP3_ENST00000557224.1_Missense_Mutation_p.V430G	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	405					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CACGGTCCACACAGCCCCCTT	0.617													4	31					0	0	0	0	C	49107877	A	C	49107877	3	2	72	1	0	0	0	0	1	0	0	0	6075	159	6	5	85	5	FOXP3	23	49107877	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	11822745	49107877	106162683	232	13872											
KIF4A	24137	broad.mit.edu	37	chrX	69563610	69563610	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagagctcaggcagcatgcgGcgtaagttgcccaccagata	12	6	12	11	2	1	2	1	0	0	2	1	2	1	2	2	2	4	5	2	2	3	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:69563610G>T	ENST00000374403.3	+	12	1406	c.1325_splice	c.e12+1	p.A442_splice	KIF4A_ENST00000374388.3_Splice_Site_p.A442_splice	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	442					anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GCAGCATGCGGCGTAAGTTGC	0.468													15	21					4.14922e-12	5.03374e-12	1	0	T	69563610	G	T	69563610	5	4	72	1	0	0	0	0	0	0	1	0	8354	1217	42	4	1366	4	KIF4A	23	69563610	Splice_Site	SNP	G	TCGA-CN-4739-01A-02D-1512-08	20455733	69563610	85706950	233	13873											
TAF1	6872	broad.mit.edu	37	chrX	70618460	70618460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaacaacatcgggaagAgatgcgaaaagaacggcgga	17	4	14	6	4	0	4	0	2	0	2	1	8	0	6	0	3	4	0	0	3	6	0			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:70618460A>G	ENST00000449580.1	+	24	3707	c.3656A>G	c.(3655-3657)gAg>gGg	p.E1219G	TAF1_ENST00000423759.1_Missense_Mutation_p.E1240G|TAF1_ENST00000373790.4_Missense_Mutation_p.E1219G|TAF1_ENST00000276072.3_Missense_Mutation_p.E1240G			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1219					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATCGGGAAGAGATGCGAAAA	0.468													6	39					0	0	0	0	G	70618460	A	G	70618460	3	3	72	1	0	0	0	0	1	0	0	0	15604	304	11	5	3813	5	TAF1	23	70618460	Missense_Mutation	SNP	A	TCGA-CN-4739-01A-02D-1512-08	1054850	70618460	84652100	234	13874											
ITM2A	9452	broad.mit.edu	37	chrX	78616844	78616844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagcaagaggtctctgcGacgaaggcggaaggactttc	11	6	13	11	3	1	1	0	0	1	1	3	5	1	3	1	4	2	1	1	4	3	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:78616844G>T	ENST00000434584.2	-	4	889	c.553C>A	c.(553-555)Cgc>Agc	p.R185S	ITM2A_ENST00000373298.2_Missense_Mutation_p.R229S|ITM2A_ENST00000469541.1_5'UTR	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	229	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGGTCTCTGCGACGAAGGCGG	0.438													31	40					3.90053e-15	4.90307e-15	1	0	T	78616844	G	T	78616844	3	4	72	1	0	0	0	0	1	0	0	0	7965	1058	37	3	114	3	ITM2A	23	78616844	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	7998384	78616844	76653716	235	13875											
DACH2	117154	broad.mit.edu	37	chrX	86068180	86068180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcatccaggagaagcaGattcaacaagaaaagaagga	18	4	11	8	1	1	4	1	0	0	4	3	6	2	5	1	2	2	3	1	2	6	1			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:86068180G>T	ENST00000373131.1	+	8	1561	c.1398G>T	c.(1396-1398)caG>caT	p.Q466H	DACH2_ENST00000373125.4_Missense_Mutation_p.Q479H|DACH2_ENST00000510272.1_Missense_Mutation_p.Q260H|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.Q312H	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	479	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGGAGAAGCAGATTCAACAAG	0.408													9	11					2.17888e-05	2.36802e-05	1	0	T	86068180	G	T	86068180	3	4	72	1	0	0	0	0	1	0	0	0	4254	933	33	2	1471	2	DACH2	23	86068180	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	7451336	86068180	69202380	236	13876											
CPXCR1	53336	broad.mit.edu	37	chrX	88009098	88009098	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacactaaagggaaatgtaGattccgtgctattgtgaggt	12	12	12	5	1	0	3	0	2	0	1	1	4	1	4	1	2	1	2	1	2	5	5			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:88009098G>T	ENST00000276127.4	+	3	942	c.683G>T	c.(682-684)aGa>aTa	p.R228I	CPXCR1_ENST00000373111.1_Missense_Mutation_p.R228I	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	228						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GGGAAATGTAGATTCCGTGCT	0.373													14	16					1.15088e-07	1.30991e-07	1	0	T	88009098	G	T	88009098	3	4	72	1	0	0	0	0	1	0	0	0	3866	942	33	2	685	2	CPXCR1	23	88009098	Missense_Mutation	SNP	G	TCGA-CN-4739-01A-02D-1512-08	1940918	88009098	67261462	237	13877											
PCDH11X	27328	broad.mit.edu	37	chrX	91134064	91134064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcccgacactacaaatctgCctctccacagcctgccttcc	8	8	6	19	1	2	0	0	0	2	0	4	1	3	0	6	1	4	0	6	1	2	2			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:91134064C>A	ENST00000373094.1	+	2	3670	c.2825C>A	c.(2824-2826)gCc>gAc	p.A942D	PCDH11X_ENST00000361655.2_Missense_Mutation_p.A942D|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A942D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A942D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A942D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	942					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACAAATCTGCCTCTCCACAG	0.478													71	87					1.63007e-36	2.18976e-36	1	0	A	91134064	C	A	91134064	3	1	72	1	0	0	0	0	1	0	0	0	11579	739	26	4	2831	4	PCDH11X	23	91134064	Missense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	3124966	91134064	64136496	238	13878											
IGSF1	3547	broad.mit.edu	37	chrX	130416470	130416470	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcatcctaatggaggtcttCcaggtgagaagatagtggca	11	9	14	7	0	1	2	0	1	1	2	3	4	3	3	2	5	0	2	2	5	3	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:130416470C>T	ENST00000370904.1	-	13	2077	c.1167G>A	c.(1165-1167)tgG>tgA	p.W389*	IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W389*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.W398*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W398*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	398	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGAGGTCTTCCAGGTGAGAA	0.408													41	40					0	0	0	0	T	130416470	C	T	130416470	4	4	72	1	0	0	0	0	0	1	0	0	7649	856	30	2	2887	2	IGSF1	23	130416470	Nonsense_Mutation	SNP	C	TCGA-CN-4739-01A-02D-1512-08	39282406	130416470	24854090	239	13879											
ZNF75D	7626	broad.mit.edu	37	chrX	134421766	134421766	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcatttccagtgtcatttTttagctttaaccctgttaga	9	18	6	8	0	2	1	2	0	0	1	3	2	3	1	2	0	2	2	2	0	3	7			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:134421766T>A	ENST00000370766.3	-	7	3545	c.836A>T	c.(835-837)aAa>aTa	p.K279I	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.K184I	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	279	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGTGTCATTTTTTAGCTTTAA	0.348													46	44					0	0	0	0	A	134421766	T	A	134421766	3	1	72	1	0	0	0	0	1	0	0	0	18228	1841	64	5	700	5	ZNF75D	23	134421766	Missense_Mutation	SNP	T	TCGA-CN-4739-01A-02D-1512-08	4005296	134421766	20848794	240	13880											
CDR1	1038	broad.mit.edu	37	chrX	139866496	139866496	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcttccaacaaaggtacGtcttccagaaaatccacgtc	13	10	6	12	2	2	1	0	0	2	1	6	1	5	1	3	1	2	1	3	1	5	3			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:139866496G>A	ENST00000370532.2	-	1	227	c.36C>T	c.(34-36)gaC>gaT	p.D12D		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	12	23 X 6 AA approximate repeats.							p.D12D(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ACAAAGGTACGTCTTCCAGAA	0.418													57	51					0	0	0	0	A	139866496	G	A	139866496	2	1	72	1	0	0	0	0	0	0	0	1	3200	1136	40	1		1	CDR1	23	139866496	Silent	SNP	G	TCGA-CN-4739-01A-02D-1512-08	5444730	139866496	15404064	241	13881											
AGRN	375790	broad.mit.edu	37	chr1	985677	985677	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcttctcccacctggagctGagaggcctgcacacctttgc	6	9	11	15	0	1	1	0	1	1	1	2	3	1	2	4	3	3	3	4	3	0	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:985677G>C	ENST00000379370.2	+	28	4994	c.4944G>C	c.(4942-4944)ctG>ctC	p.L1648L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1648	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACCTGGAGCTGAGAGGCCTGC	0.687													18	147					0	0	0	0	C	985677	G	C	985677	2	2	73	1	0	0	0	0	0	0	0	1	397	1277	45	2		2	AGRN	1	985677	Silent	SNP	G	TCGA-CN-4740-01A-01D-1434-08		985677	248264944	1	13882											
DVL1	1855	broad.mit.edu	37	chr1	1277124	1277124	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagggcggtggacgcgctGtctgggggcagccccacatc	5	6	17	13	3	1	1	0	1	1	0	2	2	1	2	2	5	1	2	2	5	0	0			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:1277124G>A	ENST00000378888.5	-	5	812	c.528C>T	c.(526-528)gaC>gaT	p.D176D	DVL1_ENST00000378891.5_Silent_p.D176D			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	176					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGGACGCGCTGTCTGGGGGCA	0.677													9	39					0	0	0	0	A	1277124	G	A	1277124	2	1	73	1	0	0	0	0	0	0	0	1	4871	1368	48	4		4	DVL1	1	1277124	Silent	SNP	G	TCGA-CN-4740-01A-01D-1434-08	291447	1277124	247973497	2	13883											
TMEM82	388595	broad.mit.edu	37	chr1	16074093	16074093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaagccagcccctgccctCggcaccccagtcccagagtt	8	5	8	20	1	0	1	0	0	0	1	2	1	1	1	8	1	3	2	8	1	1	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:16074093C>T	ENST00000375782.1	+	6	1136	c.998C>T	c.(997-999)tCg>tTg	p.S333L	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	333						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTGCCCTCGGCACCCCAG	0.607													12	133					0	0	0	0	T	16074093	C	T	16074093	3	4	73	1	0	0	0	0	1	0	0	0	16300	893	31	1	1020	1	TMEM82	1	16074093	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	14796969	16074093	233176528	3	13884											
ECE1	1889	broad.mit.edu	37	chr1	21560052	21560052	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggcctgggggaactcactGatctctgttgggggctttcc	5	11	15	10	0	2	1	1	1	1	0	4	2	3	2	2	5	1	2	2	5	1	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:21560052G>A	ENST00000415912.2	-	14	1746	c.1622_splice	c.e14+1	p.Q541_splice	ECE1_ENST00000264205.6_Splice_Site_p.Q554_splice|ECE1_ENST00000436918.2_Splice_Site_p.Q557_splice|ECE1_ENST00000357071.4_Splice_Site_p.Q545_splice|ECE1_ENST00000374893.6_Splice_Site_p.Q557_splice	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	557					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGAACTCACTGATCTCTGTTG	0.577													10	55					0	0	0	0	A	21560052	G	A	21560052	5	1	73	1	0	0	0	0	0	0	1	0	4925	1304	45	2	667	2	ECE1	1	21560052	Splice_Site	SNP	G	TCGA-CN-4740-01A-01D-1434-08	5485959	21560052	227690569	4	13885											
S100PBP	64766	broad.mit.edu	37	chr1	33292423	33292423	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtctgtattctctcggatCtcagaccattcagagactcc	9	12	7	13	2	4	2	2	0	3	2	8	4	5	3	2	1	0	1	2	1	1	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:33292423C>A	ENST00000373475.5	+	3	977	c.723C>A	c.(721-723)atC>atA	p.I241I	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Silent_p.I241I|S100PBP_ENST00000398243.3_Silent_p.I241I	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	241						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCTCTCGGATCTCAGACCATT	0.428													16	74					2.23348e-06	2.401e-06	1	0	A	33292423	C	A	33292423	2	1	73	1	0	0	0	0	0	0	0	1	13876	903	32	2		2	S100PBP	1	33292423	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	11732371	33292423	215958198	5	13886											
MACF1	23499	broad.mit.edu	37	chr1	39945527	39945527	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catcctaccagagggagcatCccagggaatgacccccttcc	10	6	9	16	0	0	2	0	1	0	1	3	4	3	4	6	2	2	1	6	2	2	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:39945527C>G	ENST00000564288.1	+	98	22793	c.22016C>G	c.(22015-22017)tCc>tGc	p.S7339C	MACF1_ENST00000372915.3_Missense_Mutation_p.S7209C|MACF1_ENST00000567887.1_Missense_Mutation_p.S7376C|MACF1_ENST00000545844.1_Missense_Mutation_p.S5251C|MACF1_ENST00000361689.2_Missense_Mutation_p.S5251C|MACF1_ENST00000289893.4_Missense_Mutation_p.S5759C|MACF1_ENST00000539005.1_Missense_Mutation_p.S5121C|MACF1_ENST00000317713.7_Missense_Mutation_p.S5251C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7209	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGGGAGCATCCCAGGGAATG	0.488													4	93					0	0	0	0	G	39945527	C	G	39945527	3	3	73	1	0	0	0	0	1	0	0	0	9209	855	30	2	22291	2	MACF1	1	39945527	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	6653104	39945527	209305094	6	13887											
RAD54L	8438	broad.mit.edu	37	chr1	46736347	46736347	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagggactgcccatgaattCaagaagcattttgaattgcc	12	12	9	8	0	1	3	1	2	0	1	1	4	1	4	2	1	3	1	2	1	5	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:46736347C>G	ENST00000371975.4	+	10	1733	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	RAD54L_ENST00000442598.1_Missense_Mutation_p.F353L	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	353					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCCATGAATTCAAGAAGCATT	0.498								Direct reversal of damage;Homologous recombination					10	149					0	0	0	0	G	46736347	C	G	46736347	3	3	73	1	0	0	0	0	1	0	0	0	13075	825	29	2	1097	2	RAD54L	1	46736347	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	6790820	46736347	202514274	7	13888											
STIL	6491	broad.mit.edu	37	chr1	47737808	47737808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccaggggaagactgtgcttCcacagaaaccaactccattt	12	8	9	12	0	0	2	0	0	0	2	2	3	2	3	4	2	3	1	4	2	3	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:47737808C>T	ENST00000360380.3	-	14	2686	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	STIL_ENST00000396221.2_Missense_Mutation_p.E775K|STIL_ENST00000337817.5_Missense_Mutation_p.E775K|STIL_ENST00000243182.6_Missense_Mutation_p.E775K|STIL_ENST00000371877.3_Missense_Mutation_p.E775K			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	775	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GACTGTGCTTCCACAGAAACC	0.433													4	79					0	0	0	0	T	47737808	C	T	47737808	3	4	73	1	0	0	0	0	1	0	0	0	15372	864	30	2	1563	2	STIL	1	47737808	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	1001461	47737808	201512813	8	13889											
ANGPTL3	27329	broad.mit.edu	37	chr1	63063358	63063358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcaagatttgctatgttaGacgatgtaaaaattttagcc	15	14	7	5	1	1	2	1	0	0	2	1	3	1	2	1	0	2	3	1	0	8	6			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:63063358G>A	ENST00000371129.3	+	1	201	c.121G>A	c.(121-123)Gac>Aac	p.D41N	DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	41					acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						TGCTATGTTAGACGATGTAAA	0.348													16	95					0	0	0	0	A	63063358	G	A	63063358	3	1	73	1	0	0	0	0	1	0	0	0	615	942	33	2	123	2	ANGPTL3	1	63063358	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	15325550	63063358	186187263	9	13890											
PDE4B	5142	broad.mit.edu	37	chr1	66827468	66827468	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgaaaatgaagatcacCtggccaaggtgtgtataagc	15	8	10	8	0	1	3	1	2	0	1	1	3	1	3	2	2	1	1	2	2	6	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:66827468C>A	ENST00000423207.2	+	8	1452	c.967C>A	c.(967-969)Ctg>Atg	p.L323M	PDE4B_ENST00000371045.5_Missense_Mutation_p.L166M|PDE4B_ENST00000371049.3_Missense_Mutation_p.L338M|PDE4B_ENST00000329654.4_Missense_Mutation_p.L338M|PDE4B_ENST00000480109.2_Missense_Mutation_p.L105M	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	338					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGAAGATCACCTGGCCAAGGT	0.408													4	72					0.00909568	0.0093568	1	0	A	66827468	C	A	66827468	3	1	73	1	0	0	0	0	1	0	0	0	11711	680	24	4	1404	4	PDE4B	1	66827468	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	3764110	66827468	182423153	10	13891											
LRRC7	57554	broad.mit.edu	37	chr1	70504158	70504158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatccttggcagaattggaCcagaacccctagtccgtttg	10	10	9	12	1	0	2	0	0	0	2	2	3	2	3	5	2	1	2	5	2	4	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:70504158C>T	ENST00000310961.5	+	22	2970	c.2552C>T	c.(2551-2553)aCc>aTc	p.T851I	LRRC7_ENST00000035383.5_Missense_Mutation_p.T846I|LRRC7_ENST00000415775.2_Missense_Mutation_p.T130I			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	846						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGAATTGGACCAGAACCCCT	0.488													13	150					0	0	0	0	T	70504158	C	T	70504158	3	4	73	1	0	0	0	0	1	0	0	0	9084	507	18	4	2611	4	LRRC7	1	70504158	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	3676690	70504158	178746463	11	13892											
EXTL2	2135	broad.mit.edu	37	chr1	101339860	101339860	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatgaggctccaatcagcaCcatagagtactggtcaccat	13	8	9	11	0	2	2	2	1	0	1	3	3	3	2	3	2	2	3	3	2	4	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:101339860C>A	ENST00000370114.3	-	5	2067	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L	EXTL2_ENST00000535414.1_Missense_Mutation_p.V198L|EXTL2_ENST00000370113.3_Missense_Mutation_p.V211L	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	211					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		CCAATCAGCACCATAGAGTAC	0.413													10	94					2.17888e-05	2.3191e-05	1	0	A	101339860	C	A	101339860	3	1	73	1	0	0	0	0	1	0	0	0	5364	507	18	4	365	4	EXTL2	1	101339860	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	30835702	101339860	147910761	12	13893											
DENND2D	79961	broad.mit.edu	37	chr1	111738609	111738609	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagggaaggctgcctctcGgaggccctgcatgaacgggt	8	6	16	11	2	1	1	0	1	1	0	2	3	1	3	2	5	4	3	2	5	2	0			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:111738609G>A	ENST00000357640.4	-	6	803	c.574C>T	c.(574-576)Cga>Tga	p.R192*	DENND2D_ENST00000369752.5_Nonsense_Mutation_p.R189*|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	192	DENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GCTGCCTCTCGGAGGCCCTGC	0.567													11	113					0	0	0	0	A	111738609	G	A	111738609	4	1	73	1	0	0	0	0	0	1	0	0	4468	1124	39	1	869	1	DENND2D	1	111738609	Nonsense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	10398749	111738609	137512012	13	13894											
UBAP2L	9898	broad.mit.edu	37	chr1	154227358	154227358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagttacagaccacacaatCtgttgaaggtgagtgttctt	11	12	10	8	0	2	3	0	2	2	1	2	3	2	3	1	1	1	4	1	1	3	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:154227358C>T	ENST00000428931.1	+	16	2068	c.1901C>T	c.(1900-1902)tCt>tTt	p.S634F	UBAP2L_ENST00000361546.2_Missense_Mutation_p.S634F|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S634F|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S645F	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	634					binding of sperm to zona pellucida		protein binding	p.S634C(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCACACAATCTGTTGAAGGT	0.398													11	96					0	0	0	0	T	154227358	C	T	154227358	3	4	73	1	0	0	0	0	1	0	0	0	16934	913	32	2	1959	2	UBAP2L	1	154227358	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	42488749	154227358	95023263	14	13895											
CEP350	9857	broad.mit.edu	37	chr1	180064865	180064865	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacctaaaagagtaaccCaacaaccatgtgaaacatta	20	6	5	10	0	0	3	0	1	0	2	0	3	0	3	3	0	5	1	3	0	8	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:180064865C>G	ENST00000367607.3	+	35	9137	c.8719C>G	c.(8719-8721)Caa>Gaa	p.Q2907E	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2907						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAGAGTAACCCAACAACCATG	0.383													8	89					0	0	0	0	G	180064865	C	G	180064865	3	3	73	1	0	0	0	0	1	0	0	0	3283	595	21	4	8853	4	CEP350	1	180064865	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	25837507	180064865	69185756	15	13896											
KIAA1614	57710	broad.mit.edu	37	chr1	180885439	180885439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacatccagcctgatggcccCccagcctcccagggtatggg	8	6	11	16	0	0	1	0	1	0	0	2	1	2	1	7	3	3	1	7	3	2	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:180885439C>A	ENST00000367588.4	+	2	255	c.200C>A	c.(199-201)cCc>cAc	p.P67H		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	67										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CTGATGGCCCCCCAGCCTCCC	0.602													8	68					0.000157383	0.000165061	1	0	A	180885439	C	A	180885439	3	1	73	1	0	0	0	0	1	0	0	0	8299	623	22	4	206	4	KIAA1614	1	180885439	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	820574	180885439	68365182	16	13897											
NCF2	4688	broad.mit.edu	37	chr1	183532571	183532571	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctgcatggagctcacctCagcttagtgtgttccagccg	6	11	11	13	1	2	0	2	0	0	0	3	1	3	1	4	1	5	4	4	1	1	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:183532571C>T	ENST00000413720.1	-	11	1315	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	NCF2_ENST00000367535.3_Silent_p.L392L|NCF2_ENST00000418089.1_Silent_p.L311L|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000367536.1_Silent_p.L392L	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	392					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						GAGCTCACCTCAGCTTAGTGT	0.557													20	339					0	0	0	0	T	183532571	C	T	183532571	2	4	73	1	0	0	0	0	0	0	0	1	10287	813	29	2		2	NCF2	1	183532571	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	2647132	183532571	65718050	17	13898											
ADORA1	134	broad.mit.edu	37	chr1	203134708	203134708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtcggcctcctccggcGacccgcagaagtactatggg	7	7	14	13	4	0	1	0	0	0	1	3	2	2	1	4	4	1	2	4	4	3	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:203134708G>T	ENST00000367236.4	+	3	1582	c.661G>T	c.(661-663)Gac>Tac	p.D221Y	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.D221Y|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.D221Y	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	221					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CTCCTCCGGCGACCCGCAGAA	0.582													17	157					2.37509e-13	2.67353e-13	1	0	T	203134708	G	T	203134708	3	4	73	1	0	0	0	0	1	0	0	0	326	1058	37	3	667	3	ADORA1	1	203134708	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	19602137	203134708	46115913	18	13899											
FMOD	2331	broad.mit.edu	37	chr1	203311480	203311480	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagggctgctcagatctcGatgaggctggcaaggcgcag	8	6	16	11	2	2	2	1	1	1	1	3	3	2	2	1	4	1	5	1	4	1	0	rs141336017	byFrequency	TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:203311480G>A	ENST00000354955.4	-	3	1585	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	374					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTCAGATCTCGATGAGGCTGG	0.637											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	83					0	0	0	0	A	203311480	G	A	203311480	2	1	73	1	0	0	0	0	0	0	0	1	6004	1048	37	1		1	FMOD	1	203311480	Silent	SNP	G	TCGA-CN-4740-01A-01D-1434-08	176772	203311480	45939141	19	13900											
HHIPL2	79802	broad.mit.edu	37	chr1	222717278	222717278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaccatgcccaggtggCggttgagatagtcgttcctc	6	9	14	12	2	0	1	0	1	0	1	3	2	1	1	4	4	1	2	4	4	1	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:222717278C>T	ENST00000343410.6	-	2	633	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	192					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R192L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCCCAGGTGGCGGTTGAGATA	0.602													10	117					0	0	0	0	T	222717278	C	T	222717278	3	4	73	1	0	0	0	0	1	0	0	0	7144	768	27	1	1631	1	HHIPL2	1	222717278	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	19405798	222717278	26533343	20	13901											
OR14I1	401994	broad.mit.edu	37	chr1	248845518	248845518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgccagataaatcagcaGaaacagcccggcgtgcagca	14	4	10	13	2	1	2	1	0	0	2	1	2	1	2	2	1	6	3	2	1	3	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:248845518G>T	ENST00000342623.3	-	1	111	c.88C>A	c.(88-90)Ctg>Atg	p.L30M		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TAAATCAGCAGAAACAGCCCG	0.493													4	66					0.248553	0.250886	1	0	T	248845518	G	T	248845518	3	4	73	1	0	0	0	0	1	0	0	0	11018	933	33	2	851	2	OR14I1	1	248845518	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	26128240	248845518	405103	21	13902											
AGBL5	60509	broad.mit.edu	37	chr2	27279594	27279594	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgtatgcccgagaccgtaGagatggccagtctaaagagg	12	8	13	8	2	1	3	0	0	1	3	1	5	1	3	3	2	1	2	3	2	5	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:27279594G>C	ENST00000360131.4	+	8	1628	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T	AGBL5_ENST00000323064.8_Missense_Mutation_p.R490T	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	490					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAGACCGTAGAGATGGCCAG	0.463													28	229					0	0	0	0	C	27279594	G	C	27279594	3	2	73	1	0	0	0	0	1	0	0	0	378	942	33	2	1495	2	AGBL5	2	27279594	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08		27279594	215919779	22	13903											
CCDC88A	55704	broad.mit.edu	37	chr2	55589533	55589533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgtcctcctgcgacatatCagtcacttccatccattgca	9	13	5	14	1	2	0	2	0	0	0	6	1	6	0	4	0	2	1	4	0	2	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:55589533C>G	ENST00000436346.1	-	7	1379	c.538G>C	c.(538-540)Gat>Cat	p.D180H	CCDC88A_ENST00000336838.6_Missense_Mutation_p.D180H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D180H|CCDC88A_ENST00000413716.2_Missense_Mutation_p.D180H	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	180					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGCGACATATCAGTCACTTCC	0.348													5	54					0	0	0	0	G	55589533	C	G	55589533	3	3	73	1	0	0	0	0	1	0	0	0	2890	826	29	2	5181	2	CCDC88A	2	55589533	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	28309939	55589533	187609840	23	13904											
EFEMP1	2202	broad.mit.edu	37	chr2	56144916	56144916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccggatgacaaagttatttCggccagtctgcatttcaggg	9	11	12	9	2	2	1	1	1	1	0	3	2	2	2	2	3	1	2	2	3	2	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:56144916C>T	ENST00000394555.2	-	4	836	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	EFEMP1_ENST00000394554.1_Missense_Mutation_p.R134Q|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R76Q|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R134Q	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	134					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAAGTTATTTCGGCCAGTCTG	0.587													17	109					0	0	0	0	T	56144916	C	T	56144916	3	4	73	1	0	0	0	0	1	0	0	0	4977	884	31	1	1112	1	EFEMP1	2	56144916	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	555383	56144916	187054457	24	13905											
MFSD9	84804	broad.mit.edu	37	chr2	103353179	103353179	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggagtcggcagcctccgcctCggttcctgtcttctgctcct	2	12	11	16	3	2	0	0	0	2	0	7	1	5	1	5	3	2	3	5	3	0	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:103353179C>G	ENST00000258436.5	-	1	134	c.91G>C	c.(91-93)Gag>Cag	p.E31Q		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	31					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GCCTCCGCCTCGGTTCCTGTC	0.672													6	58					0	0	0	0	G	103353179	C	G	103353179	3	3	73	1	0	0	0	0	1	0	0	0	9608	893	31	3	1357	3	MFSD9	2	103353179	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	47208263	103353179	139846194	25	13906											
RGPD3	653489	broad.mit.edu	37	chr2	107042470	107042470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtgggagtaacattagCtgctggtctgagaagatact	10	13	12	6	0	1	2	0	1	1	2	1	4	1	3	0	2	4	3	0	2	4	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:107042470C>A	ENST00000409886.3	-	19	2767	c.2680G>T	c.(2680-2682)Gct>Tct	p.A894S	RGPD3_ENST00000304514.7_Missense_Mutation_p.A894S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	894					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTAACATTAGCTGCTGGTCTG	0.308													5	163					0.014758	0.0150378	1	0	A	107042470	C	A	107042470	3	1	73	1	0	0	0	0	1	0	0	0	13369	797	28	4	2616	4	RGPD3	2	107042470	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	3689291	107042470	136156903	26	13907											
UGGT1	56886	broad.mit.edu	37	chr2	128865573	128865573	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttcagtttctgtcacccctCcagcagaatttgtttaaatt	9	17	5	10	0	3	1	2	0	1	1	4	1	4	1	3	0	1	3	3	0	3	6			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:128865573C>G	ENST00000375990.3	+	4	670	c.267C>G	c.(265-267)ctC>ctG	p.L89L	UGGT1_ENST00000259253.6_Silent_p.L113L			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	113					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGTCACCCCTCCAGCAGAATT	0.418													26	192					0	0	0	0	G	128865573	C	G	128865573	2	3	73	1	0	0	0	0	0	0	0	1	17037	842	30	2		2	UGGT1	2	128865573	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	21823103	128865573	114333800	27	13908											
SCN1A	6323	broad.mit.edu	37	chr2	166868758	166868758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccaacatcgtcttaatcGtctttcgctgatcaatatat	11	16	4	10	3	3	1	1	1	2	0	7	1	4	1	1	0	1	1	1	0	5	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:166868758G>A	ENST00000423058.2	-	19	3757	c.3740C>T	c.(3739-3741)aCg>aTg	p.T1247M	SCN1A_ENST00000375405.3_Missense_Mutation_p.T1236M|SCN1A_ENST00000409050.1_Missense_Mutation_p.T1219M|SCN1A_ENST00000303395.4_Missense_Mutation_p.T1247M|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1247						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGTCTTAATCGTCTTTCGCTG	0.294													12	42					0	0	0	0	A	166868758	G	A	166868758	3	1	73	1	0	0	0	0	1	0	0	0	14001	1145	40	1	2321	1	SCN1A	2	166868758	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	38003185	166868758	76330615	28	13909											
TTN	7273	broad.mit.edu	37	chr2	179497064	179497064	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggatgttatcatgagataaCtccacagtaaatacagcact	15	10	7	9	1	1	1	1	1	0	1	2	3	2	2	1	1	3	3	1	1	5	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:179497064C>T	ENST00000589042.1	-	236	43781	c.43557G>A	c.(43555-43557)gaG>gaA	p.E14519E	TTN_ENST00000359218.5_Silent_p.E5579E|TTN_ENST00000342175.6_Silent_p.E5646E|TTN_ENST00000342992.6_Silent_p.E11951E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.E5454E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.E12878E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12878	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)			CATGAGATAACTCCACAGTAA	0.428													3	16					0	0	0	0	T	179497064	C	T	179497064	2	4	73	1	0	0	0	0	0	0	0	1	16831	564	20	4		4	TTN	2	179497064	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	12628306	179497064	63702309	29	13910											
TTN	7273	broad.mit.edu	37	chr2	179500746	179500746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgttttccacagtaactGtgtatgttccagcatctgtg	7	15	10	9	1	1	0	0	0	1	0	3	0	3	0	2	1	2	5	2	1	2	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:179500746G>A	ENST00000589042.1	-	226	41776	c.41552C>T	c.(41551-41553)aCa>aTa	p.T13851I	TTN_ENST00000359218.5_Missense_Mutation_p.T4911I|TTN_ENST00000342175.6_Missense_Mutation_p.T4978I|TTN_ENST00000342992.6_Missense_Mutation_p.T11283I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T4786I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T12210I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12210							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)			CACAGTAACTGTGTATGTTCC	0.468													16	163					0	0	0	0	A	179500746	G	A	179500746	3	1	73	1	0	0	0	0	1	0	0	0	16831	1377	48	4	66689	4	TTN	2	179500746	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	3682	179500746	63698627	30	13911											
NEUROD1	4760	broad.mit.edu	37	chr2	182543116	182543116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgggcttttgcctgagcGcaggatctccgacagagccc	6	9	13	13	2	2	2	0	1	2	1	3	4	2	3	3	2	3	2	3	2	0	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:182543116G>A	ENST00000295108.3	-	2	929	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	158					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTGCCTGAGCGCAGGATCTCC	0.562													8	130					0	0	0	0	A	182543116	G	A	182543116	3	1	73	1	0	0	0	0	1	0	0	0	10418	1087	38	1	602	1	NEUROD1	2	182543116	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	3042370	182543116	60656257	31	13912											
WNT6	7475	broad.mit.edu	37	chr2	219736445	219736445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgacgtggacttcggggaCgagaagtcgaggctctttat	9	9	15	8	5	1	1	0	0	1	1	3	7	1	3	0	4	0	1	0	4	2	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:219736445C>T	ENST00000233948.3	+	3	757	c.540C>T	c.(538-540)gaC>gaT	p.D180D	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	180					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTCGGGGACGAGAAGTCGA	0.726													3	23					0	0	0	0	T	219736445	C	T	219736445	2	4	73	1	0	0	0	0	0	0	0	1	17489	535	19	1		1	WNT6	2	219736445	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	37193329	219736445	23462928	32	13913											
PTPRN	5798	broad.mit.edu	37	chr2	220161532	220161532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccaccttcagttttatgCgggcatggtcatctgcacag	7	13	9	12	1	4	0	2	0	2	0	5	0	4	0	2	2	2	3	2	2	1	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:220161532C>T	ENST00000295718.2	-	16	2489	c.2249G>A	c.(2248-2250)cGc>cAc	p.R750H	PTPRN_ENST00000409251.3_Missense_Mutation_p.R721H|PTPRN_ENST00000423636.2_Missense_Mutation_p.R660H	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	750	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGTTTTATGCGGGCATGGTC	0.617													3	46					0	0	0	0	T	220161532	C	T	220161532	3	4	73	1	0	0	0	0	1	0	0	0	12889	768	27	1	722	1	PTPRN	2	220161532	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	425087	220161532	23037841	33	13914											
CSPG5	10675	broad.mit.edu	37	chr3	47619197	47619197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggtcactcctcccaggcCtgggctgtcagcttccagcc	4	9	11	17	1	2	0	2	0	0	0	5	0	5	0	5	3	3	2	5	3	0	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:47619197C>T	ENST00000383738.2	-	2	2417	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	CSPG5_ENST00000465441.1_5'UTR|CSPG5_ENST00000456150.1_5'UTR|CSPG5_ENST00000264723.4_Missense_Mutation_p.G107S	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	107					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTCCCAGGCCTGGGCTGTCA	0.716													10	76					0	0	0	0	T	47619197	C	T	47619197	3	4	73	1	0	0	0	0	1	0	0	0	3993	681	24	4	1316	4	CSPG5	3	47619197	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08		47619197	150403233	34	13915											
CRYBG3	131544	broad.mit.edu	37	chr3	97596124	97596124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtcttgtttcatgataCgtccgctgacagcatgcctg	6	14	10	11	2	3	2	1	2	2	0	4	2	4	2	2	0	3	3	2	0	1	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:97596124C>T	ENST00000182096.4	+	1	306	c.242C>T	c.(241-243)aCg>aTg	p.T81M		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TTTCATGATACGTCCGCTGAC	0.423													12	100					0	0	0	0	T	97596124	C	T	97596124	3	4	73	1	0	0	0	0	1	0	0	0	3943	536	19	1	244	1	CRYBG3	3	97596124	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	49976927	97596124	100426306	35	13916											
ESYT3	83850	broad.mit.edu	37	chr3	138178826	138178826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctggagcccctcctaGtggacaagccctttgtggga	7	10	11	13	0	1	0	1	0	0	0	3	3	3	3	5	3	2	0	5	3	2	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:138178826G>A	ENST00000389567.4	+	6	874	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	ESYT3_ENST00000289135.4_Missense_Mutation_p.V230M	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	230						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GCCCCTCCTAGTGGACAAGCC	0.632													24	122					0	0	0	0	A	138178826	G	A	138178826	3	1	73	1	0	0	0	0	1	0	0	0	5304	1029	36	4	710	4	ESYT3	3	138178826	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	40582702	138178826	59843604	36	13917											
VEPH1	79674	broad.mit.edu	37	chr3	157004456	157004456	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatggagctgtacctggTccagatcctgtgtcaggaac	9	9	12	11	0	1	2	1	0	0	2	3	4	3	4	4	3	3	2	4	3	2	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:157004456T>A	ENST00000362010.2	-	12	2325	c.2018A>T	c.(2017-2019)gAc>gTc	p.D673V	RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.D673V|VEPH1_ENST00000392833.2_Missense_Mutation_p.D628V|VEPH1_ENST00000543418.1_Missense_Mutation_p.D628V|RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	673						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTGTACCTGGTCCAGATCCTG	0.493													10	125					0	0	0	0	A	157004456	T	A	157004456	3	1	73	1	0	0	0	0	1	0	0	0	17250	1667	58	5	495	5	VEPH1	3	157004456	Missense_Mutation	SNP	T	TCGA-CN-4740-01A-01D-1434-08	18825630	157004456	41017974	37	13918											
MCF2L2	23101	broad.mit.edu	37	chr3	182925545	182925545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atccttcattttataacgatCcttgtgaattgtccagacgc	10	15	6	10	2	1	2	1	1	0	1	4	3	4	2	3	0	1	0	3	0	3	6			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:182925545C>T	ENST00000328913.3	-	23	2860	c.2563G>A	c.(2563-2565)Gat>Aat	p.D855N	MCF2L2_ENST00000473233.1_Missense_Mutation_p.D855N	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	855	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTATAACGATCCTTGTGAATT	0.423													20	84					0	0	0	0	T	182925545	C	T	182925545	3	4	73	1	0	0	0	0	1	0	0	0	9449	855	30	2	813	2	MCF2L2	3	182925545	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	25921089	182925545	15096885	38	13919											
CRMP1	1400	broad.mit.edu	37	chr4	5862865	5862865	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgacatcaatacctccGggaataaccatccgcccgtt	10	10	8	13	3	1	1	1	1	0	0	3	2	3	2	5	1	2	2	5	1	4	4	rs145307270		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:5862865G>A	ENST00000324989.7	-	3	631	c.543C>T	c.(541-543)ccC>ccT	p.P181P	CRMP1_ENST00000397890.2_Silent_p.P67P|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Silent_p.P65P	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	67					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CAATACCTCCGGGAATAACCA	0.552													5	219					0	0	0	0	A	5862865	G	A	5862865	2	1	73	1	0	0	0	0	0	0	0	1	3920	1103	39	1		1	CRMP1	4	5862865	Silent	SNP	G	TCGA-CN-4740-01A-01D-1434-08		5862865	185291411	39	13920											
PCDH7	5099	broad.mit.edu	37	chr4	30724332	30724332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccccctcaaggacggggtgGccaacgtggccgaggacgtt	7	6	15	13	4	1	0	1	0	0	0	2	3	2	2	4	6	1	1	4	6	2	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:30724332G>A	ENST00000361762.2	+	1	2296	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T	PCDH7_ENST00000543491.1_Missense_Mutation_p.A430T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	430	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGACGGGGTGGCCAACGTGGC	0.617													3	58					0	0	0	0	A	30724332	G	A	30724332	3	1	73	1	0	0	0	0	1	0	0	0	11587	1203	42	4	1290	4	PCDH7	4	30724332	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	24861467	30724332	160429944	40	13921											
PHOX2B	8929	broad.mit.edu	37	chr4	41748274	41748274	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagccgttcttggccgcGgccgctgcggctgccgctgc	2	7	17	15	6	1	0	0	0	1	0	1	2	1	1	4	4	4	4	4	4	0	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:41748274G>A	ENST00000226382.2	-	3	854	c.495C>T	c.(493-495)gcC>gcT	p.A165A		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	165	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TCTTGGCCGCGGCCGCTGCGG	0.657			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	35					0	0	0	0	A	41748274	G	A	41748274	2	1	73	1	0	0	0	0	0	0	0	1	11931	1103	39	1		1	PHOX2B	4	41748274	Silent	SNP	G	TCGA-CN-4740-01A-01D-1434-08	11023942	41748274	149406002	41	13922											
GRXCR1	389207	broad.mit.edu	37	chr4	42895345	42895345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtccggtttcggatcgCgtcctctcacagtgggcgag	7	9	14	11	5	1	0	1	0	1	0	6	3	3	1	2	3	0	1	2	3	1	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:42895345C>T	ENST00000399770.2	+	1	62	c.62C>T	c.(61-63)gCg>gTg	p.A21V		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	21					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.A21V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTTCGGATCGCGTCCTCTCAC	0.507													5	181					0	0	0	0	T	42895345	C	T	42895345	3	4	73	1	0	0	0	0	1	0	0	0	6862	768	27	1	64	1	GRXCR1	4	42895345	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	1147071	42895345	148258931	42	13923											
KIAA1211	57482	broad.mit.edu	37	chr4	57190422	57190422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccaatactcttcctacGtctgtgacaggtagagagca	12	9	10	10	1	2	2	0	1	2	1	3	3	3	2	2	2	3	2	2	2	5	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:57190422G>A	ENST00000504228.1	+	8	3636	c.3531G>A	c.(3529-3531)acG>acA	p.T1177T	KIAA1211_ENST00000541073.1_Silent_p.T1170T|KIAA1211_ENST00000264229.6_Silent_p.T1177T			Q6ZU35	K1211_HUMAN	KIAA1211	1177										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCTTCCTACGTCTGTGACAG	0.488													24	63					0	0	0	0	A	57190422	G	A	57190422	2	1	73	1	0	0	0	0	0	0	0	1	8266	1132	40	1		1	KIAA1211	4	57190422	Silent	SNP	G	TCGA-CN-4740-01A-01D-1434-08	14295077	57190422	133963854	43	13924											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68725342	68725342	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actacccctgcgacgacaatGaaacatactacatatggatt	15	9	6	11	2	0	1	0	1	0	0	0	4	0	2	2	1	5	0	2	1	6	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:68725342G>A	ENST00000283916.6	-	2	161	c.63C>T	c.(61-63)ttC>ttT	p.F21F	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_Intron|TMPRSS11D_ENST00000545541.1_Intron	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	21					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CGACGACAATGAAACATACTA	0.383													5	97					0	0	0	0	A	68725342	G	A	68725342	2	1	73	1	0	0	0	0	0	0	0	1	16335	1281	45	2		2	TMPRSS11D	4	68725342	Silent	SNP	G	TCGA-CN-4740-01A-01D-1434-08	11534920	68725342	122428934	44	13925											
ENAM	10117	broad.mit.edu	37	chr4	71507743	71507743	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctacagaatccttacttTggatattttggatatcatgg	10	17	7	7	0	1	1	1	0	0	1	3	3	3	3	2	3	2	0	2	3	5	8			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:71507743T>C	ENST00000396073.3	+	9	881	c.600T>C	c.(598-600)ttT>ttC	p.F200F	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	200					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATCCTTACTTTGGATATTTTG	0.353													70	300					0	0	0	0	C	71507743	T	C	71507743	2	2	73	1	0	0	0	0	0	0	0	1	5150	1809	63	5		5	ENAM	4	71507743	Silent	SNP	T	TCGA-CN-4740-01A-01D-1434-08	2782401	71507743	119646533	45	13926											
THAP9	79725	broad.mit.edu	37	chr4	83839109	83839109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggatttttgctcaatgctGagagcttaaaatggctctac	10	14	10	7	0	2	1	1	1	1	1	2	3	2	2	0	2	4	4	0	2	4	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:83839109G>A	ENST00000302236.5	+	5	1795	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	582							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCTCAATGCTGAGAGCTTAAA	0.333													5	90					0	0	0	0	A	83839109	G	A	83839109	3	1	73	1	0	0	0	0	1	0	0	0	15945	1291	45	2	1762	2	THAP9	4	83839109	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	12331366	83839109	107315167	46	13927											
SCLT1	132320	broad.mit.edu	37	chr4	129864201	129864201	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaatcttccttaaactctCagtctctttccgtaactgtt	8	16	5	12	1	3	0	1	0	3	0	7	0	5	0	2	1	2	3	2	1	4	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:129864201C>G	ENST00000281142.5	-	17	2085	c.1582G>C	c.(1582-1584)Gag>Cag	p.E528Q	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	528						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTTAAACTCTCAGTCTCTTTC	0.363													13	240					0	0	0	0	G	129864201	C	G	129864201	3	3	73	1	0	0	0	0	1	0	0	0	13993	835	29	2	504	2	SCLT1	4	129864201	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	46025092	129864201	61290075	47	13928											
PCDH18	54510	broad.mit.edu	37	chr4	138452188	138452188	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggttgatgttaatttcaGgtttattgtcattaacatcc	10	18	8	5	0	2	2	2	2	0	0	3	2	3	2	1	2	1	3	1	2	3	7			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:138452188G>C	ENST00000344876.4	-	1	1441	c.1055C>G	c.(1054-1056)cCt>cGt	p.P352R	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.P132R|PCDH18_ENST00000412923.2_Missense_Mutation_p.P352R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	352	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTTAATTTCAGGTTTATTGTC	0.358													19	90					0	0	0	0	C	138452188	G	C	138452188	3	2	73	1	0	0	0	0	1	0	0	0	11584	1000	35	4	2368	4	PCDH18	4	138452188	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	8587987	138452188	52702088	48	13929											
SORBS2	8470	broad.mit.edu	37	chr4	186544853	186544853	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatgggcaccagggcgttaGactggcagcctcgccggccc	7	5	15	14	3	0	1	0	0	0	1	1	2	0	1	4	4	1	3	4	4	2	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:186544853G>C	ENST00000431808.1	-	14	2281	c.1718C>G	c.(1717-1719)tCt>tGt	p.S573C	SORBS2_ENST00000355634.5_Missense_Mutation_p.S673C|SORBS2_ENST00000418609.1_Missense_Mutation_p.S477C|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.S573C|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	573						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGGGCGTTAGACTGGCAGCC	0.592													17	82					0	0	0	0	C	186544853	G	C	186544853	3	2	73	1	0	0	0	0	1	0	0	0	15016	942	33	2	1620	2	SORBS2	4	186544853	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	48092665	186544853	4609423	49	13930											
SORBS2	8470	broad.mit.edu	37	chr4	186545169	186545169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcacggagcagatcacctCggagttcatcaggtccttgc	8	10	10	13	2	4	1	4	0	0	1	6	3	5	3	2	3	2	2	2	3	0	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:186545169C>T	ENST00000431808.1	-	14	1965	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	SORBS2_ENST00000355634.5_Missense_Mutation_p.E568K|SORBS2_ENST00000418609.1_Missense_Mutation_p.E372K|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.E468K|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	468						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGATCACCTCGGAGTTCATC	0.587													14	201					0	0	0	0	T	186545169	C	T	186545169	3	4	73	1	0	0	0	0	1	0	0	0	15016	893	31	1	1936	1	SORBS2	4	186545169	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	316	186545169	4609107	50	13931											
ADAMTS16	170690	broad.mit.edu	37	chr5	5200364	5200364	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcaccctgcagccgccagtAtctacacaaatttctaaggt	11	10	7	13	1	3	0	1	0	2	0	3	0	3	0	3	1	3	2	3	1	4	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:5200364A>G	ENST00000274181.7	+	9	1571	c.1433A>G	c.(1432-1434)tAt>tGt	p.Y478C	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.Y478C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	478	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGCCGCCAGTATCTACACAAA	0.517													12	111					0	0	0	0	G	5200364	A	G	5200364	3	3	73	1	0	0	0	0	1	0	0	0	261	449	16	5	1467	5	ADAMTS16	5	5200364	Missense_Mutation	SNP	A	TCGA-CN-4740-01A-01D-1434-08		5200364	175714896	51	13932											
C7	730	broad.mit.edu	37	chr5	40972634	40972634	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttagaaggtccttcagcatTtctctgtggctccagcctta	7	14	8	12	0	2	1	1	0	1	1	5	1	4	1	3	2	2	2	3	2	3	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:40972634T>G	ENST00000313164.9	+	15	2371	c.2012T>G	c.(2011-2013)tTt>tGt	p.F671C	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	671	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CCTTCAGCATTTCTCTGTGGC	0.488													21	205					0	0	0	0	G	40972634	T	G	40972634	3	3	73	1	0	0	0	0	1	0	0	0	2398	1841	64	5	2070	5	C7	5	40972634	Missense_Mutation	SNP	T	TCGA-CN-4740-01A-01D-1434-08	35772270	40972634	139942626	52	13933											
NRG2	9542	broad.mit.edu	37	chr5	139422017	139422017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttgccgttggtatcgaggGgggcaaaggccgtcttaaag	8	11	15	7	3	1	0	0	0	1	0	2	1	1	0	2	5	1	3	2	5	4	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:139422017G>A	ENST00000541337.1	-	1	867	c.638C>T	c.(637-639)cCc>cTc	p.P213L	NRG2_ENST00000361474.1_Missense_Mutation_p.P213L|NRG2_ENST00000289422.7_Missense_Mutation_p.P213L|NRG2_ENST00000545385.1_Missense_Mutation_p.P213L|NRG2_ENST00000289409.4_Missense_Mutation_p.P213L|NRG2_ENST00000394770.1_Missense_Mutation_p.P213L|NRG2_ENST00000358522.3_Missense_Mutation_p.P213L	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	213					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTATCGAGGGGGGCAAAGGC	0.572													3	8					0	0	0	0	A	139422017	G	A	139422017	3	1	73	1	0	0	0	0	1	0	0	0	10719	1232	43	4	2045	4	NRG2	5	139422017	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	98449383	139422017	41493243	53	13934											
PCDHB6	56130	broad.mit.edu	37	chr5	140530097	140530097	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgatttactgctaaatGaaaaactggaccgggaggag	14	8	11	8	1	0	2	0	2	0	0	0	5	0	5	2	3	3	1	2	3	5	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140530097G>T	ENST00000231136.1	+	1	259	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		87	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGCTAAATGAAAAACTGGA	0.517													22	170					2.39556e-15	2.71077e-15	1	0	T	140530097	G	T	140530097	4	4	73	1	0	0	0	0	0	1	0	0	11617	1291	45	2	261	2	PCDHB6	5	140530097	Nonsense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	1108080	140530097	40385163	54	13935											
PCDHB6	56130	broad.mit.edu	37	chr5	140530481	140530481	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggctaacgctgatcgcgctgGatggcgggtctccgccccgg	4	7	16	14	6	1	1	0	1	1	0	3	2	1	2	3	5	1	3	3	5	1	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140530481G>C	ENST00000231136.1	+	1	643	c.643G>C	c.(643-645)Gat>Cat	p.D215H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.D79H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		215	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATCGCGCTGGATGGCGGGTC	0.602													6	92					0	0	0	0	C	140530481	G	C	140530481	3	2	73	1	0	0	0	0	1	0	0	0	11617	1174	41	2	645	2	PCDHB6	5	140530481	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	384	140530481	40384779	55	13936											
PCDHGA12	26025	broad.mit.edu	37	chr5	140810927	140810927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtgctgaaacgcgccctgGaccgcgaagaaaaggctgct	10	6	14	11	4	0	2	0	1	0	1	0	4	0	3	2	3	3	3	2	3	4	0			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140810927G>A	ENST00000252085.3	+	1	743	c.601G>A	c.(601-603)Gac>Aac	p.D201N	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCCTGGACCGCGAAGA	0.627													46	179					0	0	0	0	A	140810927	G	A	140810927	3	1	73	1	0	0	0	0	1	0	0	0	11624	1174	41	2	603	2	PCDHGA12	5	140810927	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	280446	140810927	40104333	56	13937											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812206	140812206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcacacgggcgaggtgcGcacggcgcgagccctgctgg	5	5	17	14	6	1	0	0	0	1	0	1	2	1	0	1	4	4	3	1	4	0	0			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140812206G>A	ENST00000252085.3	+	1	2022	c.1880G>A	c.(1879-1881)cGc>cAc	p.R627H	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGGTGCGCACGGCGCGA	0.687													10	112					0	0	0	0	A	140812206	G	A	140812206	3	1	73	1	0	0	0	0	1	0	0	0	11624	1087	38	1	1882	1	PCDHGA12	5	140812206	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	1279	140812206	40103054	57	13938											
ATP10B	23120	broad.mit.edu	37	chr5	160097667	160097667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacttctgcacataggtctGctcttttcttgggtgagaga	7	14	11	9	0	4	2	0	1	4	1	4	3	4	2	0	2	2	3	0	2	1	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:160097667G>T	ENST00000327245.5	-	7	1324	c.478C>A	c.(478-480)Cag>Aag	p.Q160K		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	160					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Q160K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATAGGTCTGCTCTTTTCTT	0.458													24	164					9.80776e-20	1.12163e-19	1	0	T	160097667	G	T	160097667	3	4	73	1	0	0	0	0	1	0	0	0	1121	1328	46	4	3987	4	ATP10B	5	160097667	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	19285461	160097667	20817593	58	13939											
COL23A1	91522	broad.mit.edu	37	chr5	177697340	177697340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccctgtcatcacttacggGcttgccatccaaacccaggg	8	9	9	15	1	2	0	2	0	0	0	3	0	3	0	4	2	4	1	4	2	2	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:177697340G>A	ENST00000390654.3	-	6	823	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	COL23A1_ENST00000407622.1_Missense_Mutation_p.P120S	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	156	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TCACTTACGGGCTTGCCATCC	0.597													6	39					0	0	0	0	A	177697340	G	A	177697340	3	1	73	1	0	0	0	0	1	0	0	0	3712	1203	42	4	1252	4	COL23A1	5	177697340	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	17599673	177697340	3217920	59	13940											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045748	26045748	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccggccaccggtggcgtgaAgaaacctcatcgctaccgcc	8	6	11	16	5	1	2	1	1	0	1	3	2	2	2	6	3	2	1	6	3	3	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:26045748A>T	ENST00000540144.1	+	1	110	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGTGGCGTGAAGAAACCTCAT	0.632													16	80					0	0	0	0	T	26045748	A	T	26045748	3	4	73	1	0	0	0	0	1	0	0	0	7207	72	3	5	112	5	HIST1H3C	6	26045748	Missense_Mutation	SNP	A	TCGA-CN-4740-01A-01D-1434-08		26045748	145069319	60	13941											
HIST1H2AC	8334	broad.mit.edu	37	chr6	26124629	26124629	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtacctggcggcggtgttaGagtacctgaccgccgagatc	7	9	14	11	4	0	3	0	1	0	2	1	4	0	3	4	3	2	3	4	3	3	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:26124629G>C	ENST00000602637.1	+	1	199	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E57Q			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	57					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						GGCGGTGTTAGAGTACCTGAC	0.662													10	46					0	0	0	0	C	26124629	G	C	26124629	3	2	73	1	0	0	0	0	1	0	0	0	7180	943	33	2	171	2	HIST1H2AC	6	26124629	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	78881	26124629	144990438	61	13942											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28333970	28333970	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactggtgagaaaccctatCagtgtaatgcgtgtggaaaa	14	9	11	7	1	1	1	1	1	0	1	1	3	1	2	1	2	2	1	1	2	5	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:28333970C>T	ENST00000377255.3	+	7	1822	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	ZKSCAN3_ENST00000252211.2_Nonsense_Mutation_p.Q509*|ZKSCAN3_ENST00000341464.5_Nonsense_Mutation_p.Q361*	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	509					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GAAACCCTATCAGTGTAATGC	0.413													7	78					0	0	0	0	T	28333970	C	T	28333970	4	4	73	1	0	0	0	0	0	1	0	0	17783	827	29	2	1543	2	ZKSCAN3	6	28333970	Nonsense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	2209341	28333970	142781097	62	13943											
C6orf165	154313	broad.mit.edu	37	chr6	88127960	88127960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtagcaatcccagccacCatgcagcatattgattacca	13	9	6	13	0	0	1	0	1	0	0	1	1	1	1	4	0	5	4	4	0	4	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:88127960C>T	ENST00000507897.1	+	7	749	c.666C>T	c.(664-666)acC>acT	p.T222T	C6ORF165_ENST00000369562.4_Silent_p.T222T			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	222										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TCCCAGCCACCATGCAGCATA	0.493													11	89					0	0	0	0	T	88127960	C	T	88127960	2	4	73	1	0	0	0	0	0	0	0	1	2362	581	21	4		4	C6orf165	6	88127960	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	59793990	88127960	82987107	63	13944											
MDN1	23195	broad.mit.edu	37	chr6	90387317	90387317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcctgagtgctgctgaCgatggacaatgcgctctgga	8	9	13	11	2	1	2	0	2	1	0	2	5	2	4	2	2	4	3	2	2	1	0			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:90387317C>T	ENST00000369393.3	-	76	12626	c.12511G>A	c.(12511-12513)Gtc>Atc	p.V4171I	MDN1_ENST00000428876.1_Missense_Mutation_p.V4171I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4171					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGCTGCTGACGATGGACAAT	0.433													19	113					0	0	0	0	T	90387317	C	T	90387317	3	4	73	1	0	0	0	0	1	0	0	0	9484	536	19	1	4387	1	MDN1	6	90387317	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	2259357	90387317	80727750	64	13945											
FGFR1OP	11116	broad.mit.edu	37	chr6	167427050	167427050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagcgggcagaaggctggtGacaaggtaacatgcatgagg	13	5	16	7	1	0	3	0	2	0	1	0	3	0	3	0	5	3	4	0	5	4	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:167427050G>A	ENST00000366847.3	+	7	805	c.574G>A	c.(574-576)Gac>Aac	p.D192N	FGFR1OP_ENST00000349556.4_Intron	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	192					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		GAAGGCTGGTGACAAGGTAAC	0.488			T	FGFR1	"MPD, NHL"								6	97					0	0	0	0	A	167427050	G	A	167427050	3	1	73	1	0	0	0	0	1	0	0	0	5909	1290	45	2	600	2	FGFR1OP	6	167427050	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	77039733	167427050	3688017	65	13946											
HEPACAM2	253012	broad.mit.edu	37	chr7	92838082	92838082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaggtgttggggggatGagaatcagcagaacaatcaa	14	7	16	4	0	2	2	2	1	0	2	2	5	2	4	0	5	2	3	0	5	5	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:92838082G>T	ENST00000394468.2	-	4	900	c.823C>A	c.(823-825)Cat>Aat	p.H275N	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.H263N|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.H298N|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.H263N	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	275	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTGGGGGGATGAGAATCAGCA	0.433													18	412					1.99824e-07	2.1589e-07	1	0	T	92838082	G	T	92838082	3	4	73	1	0	0	0	0	1	0	0	0	7103	1290	45	2	593	2	HEPACAM2	7	92838082	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08		92838082	66300581	66	13947											
TRRAP	8295	broad.mit.edu	37	chr7	98608706	98608706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcctcaaggaggttcagaGtaacatggtgccgcgcagca	11	7	12	11	2	2	1	2	0	0	1	3	2	3	2	2	3	3	4	2	3	2	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:98608706G>A	ENST00000359863.4	+	70	11137	c.10928G>A	c.(10927-10929)aGt>aAt	p.S3643N	TRRAP_ENST00000446306.3_Missense_Mutation_p.S3632N|TRRAP_ENST00000355540.3_Missense_Mutation_p.S3614N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3643	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGTTCAGAGTAACATGGTG	0.527													24	50					0	0	0	0	A	98608706	G	A	98608706	3	1	73	1	0	0	0	0	1	0	0	0	16696	1029	36	4	11111	4	TRRAP	7	98608706	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	5770624	98608706	60529957	67	13948											
TAF6	6878	broad.mit.edu	37	chr7	99707583	99707583	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtcaccagcaggaggctCtgcacatggtctgctccaat	9	9	10	13	0	4	0	2	0	2	0	5	1	5	1	2	3	3	4	2	3	1	0	rs145206628		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99707583C>T	ENST00000344095.4	-	12	1797	c.1272G>A	c.(1270-1272)caG>caA	p.Q424Q	TAF6_ENST00000418432.2_Silent_p.Q348Q|TAF6_ENST00000437822.2_Silent_p.Q461Q|TAF6_ENST00000472509.1_Silent_p.Q481Q|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000453269.2_Silent_p.Q424Q|TAF6_ENST00000452041.1_Silent_p.Q424Q	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	424					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q424H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGAGGCTCTGCACATGGT	0.572													19	166					0	0	0	0	T	99707583	C	T	99707583	2	4	73	1	0	0	0	0	0	0	0	1	15621	912	32	2		2	TAF6	7	99707583	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	1098877	99707583	59431080	68	13949			1	23		6	6	4252	N	G_C	5.489345e-11
TAF6	6878	broad.mit.edu	37	chr7	99711299	99711299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgatgatgtcgctcagatCaacctccttctcctcataga	10	13	6	12	1	4	4	3	2	1	2	7	4	5	4	3	0	1	1	3	0	2	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711299C>T	ENST00000344095.4	-	4	862	c.337G>A	c.(337-339)Gat>Aat	p.D113N	TAF6_ENST00000418432.2_Missense_Mutation_p.D56N|TAF6_ENST00000437822.2_Missense_Mutation_p.D150N|TAF6_ENST00000472509.1_Missense_Mutation_p.D170N|TAF6_ENST00000453269.2_Missense_Mutation_p.D113N|TAF6_ENST00000452041.1_Missense_Mutation_p.D113N	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	113					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCGCTCAGATCAACCTCCTTC	0.607													24	177					0	0	0	0	T	99711299	C	T	99711299	3	4	73	1	0	0	0	0	1	0	0	0	15621	826	29	2	1744	2	TAF6	7	99711299	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	3716	99711299	59427364	69	13950			1	23		6	6	4252	N	G_C	5.489345e-11
TAF6	6878	broad.mit.edu	37	chr7	99711569	99711569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccccatgtgcatgaacttCaaggcatcctggggtcggtg	7	11	12	11	1	1	1	1	1	0	0	4	1	3	1	3	4	2	2	3	4	2	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711569C>T	ENST00000344095.4	-	3	690	c.165G>A	c.(163-165)ttG>ttA	p.L55L	TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000437822.2_Silent_p.L92L|TAF6_ENST00000472509.1_Silent_p.L112L|TAF6_ENST00000453269.2_Silent_p.L55L|TAF6_ENST00000452041.1_Silent_p.L55L	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	55					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCATGAACTTCAAGGCATCCT	0.557													19	117					0	0	0	0	T	99711569	C	T	99711569	2	4	73	1	0	0	0	0	0	0	0	1	15621	825	29	2		2	TAF6	7	99711569	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	270	99711569	59427094	70	13951			1	23		6	6	4252	N	G_C	5.489345e-11
TAF6	6878	broad.mit.edu	37	chr7	99711749	99711749	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctcctcctgaatctgggcGatgcccatggattcagccac	7	10	10	14	1	3	1	1	1	2	0	5	3	4	2	4	2	2	0	4	2	1	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711749G>A	ENST00000344095.4	-	2	609	c.84C>T	c.(82-84)atC>atT	p.I28I	TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000437822.2_Silent_p.I65I|TAF6_ENST00000472509.1_Silent_p.I85I|TAF6_ENST00000453269.2_Silent_p.I28I|TAF6_ENST00000452041.1_Silent_p.I28I	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	28					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCTGGGCGATGCCCATGG	0.567													31	173					0	0	0	0	A	99711749	G	A	99711749	2	1	73	1	0	0	0	0	0	0	0	1	15621	1048	37	1		1	TAF6	7	99711749	Silent	SNP	G	TCGA-CN-4740-01A-01D-1434-08	180	99711749	59426914	71	13952			1	23		6	6	4252	N	G_C	5.489345e-11
TAF6	6878	broad.mit.edu	37	chr7	99711776	99711776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggattcagccaccaccttCatggactccgagggcagcac	10	7	10	14	1	2	0	2	0	0	0	3	3	3	2	4	3	2	2	4	3	0	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711776C>T	ENST00000344095.4	-	2	582	c.57G>A	c.(55-57)atG>atA	p.M19I	TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000437822.2_Missense_Mutation_p.M56I|TAF6_ENST00000472509.1_Missense_Mutation_p.M76I|TAF6_ENST00000453269.2_Missense_Mutation_p.M19I|TAF6_ENST00000452041.1_Missense_Mutation_p.M19I	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	19					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCACCACCTTCATGGACTCCG	0.572													29	181					0	0	0	0	T	99711776	C	T	99711776	3	4	73	1	0	0	0	0	1	0	0	0	15621	826	29	2	2032	2	TAF6	7	99711776	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	27	99711776	59426887	72	13953			1	23		6	6	4252	N	G_C	5.489345e-11
TAF6	6878	broad.mit.edu	37	chr7	99711834	99711834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttcttctcctcagccattCtggagtccctcttctcctcc	3	15	5	18	0	6	0	1	0	5	0	10	1	8	1	5	1	1	1	5	1	0	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711834C>T	ENST00000472509.1	-	1	347	c.170G>A	c.(169-171)aGa>aAa	p.R57K	TAF6_ENST00000344095.4_5'UTR|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000437822.2_Missense_Mutation_p.R37K|TAF6_ENST00000453269.2_5'UTR|TAF6_ENST00000452041.1_5'UTR			P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	0					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCAGCCATTCTGGAGTCCCT	0.572													18	147					0	0	0	0	T	99711834	C	T	99711834	3	4	73	1	0	0	0	0	1	0	0	0	15621	928	32	2	2090	2	TAF6	7	99711834	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	58	99711834	59426829	73	13954			1	23		6	6	4252	N	G_C	5.489345e-11
RELN	5649	broad.mit.edu	37	chr7	103191542	103191542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagcttcccaaagtgcaCgacctccctcctccagccct	7	8	7	19	1	0	0	0	0	0	0	4	1	4	0	6	0	4	3	6	0	1	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:103191542C>T	ENST00000424685.2	-	41	6433	c.6274G>A	c.(6274-6276)Gtg>Atg	p.V2092M	RELN_ENST00000343529.5_Missense_Mutation_p.V2092M|RELN_ENST00000428762.1_Missense_Mutation_p.V2092M			P78509	RELN_HUMAN	reelin	2092					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAAAGTGCACGACCTCCCTC	0.552													9	54					0	0	0	0	T	103191542	C	T	103191542	3	4	73	1	0	0	0	0	1	0	0	0	13302	536	19	1	4208	1	RELN	7	103191542	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	3479708	103191542	55947121	74	13955											
SRPK2	6733	broad.mit.edu	37	chr7	104782508	104782509	+	Frame_Shift_Ins	INS	-	-	A																															cgttctgcttctgtcatgggINSatggactgctctcctcttgc																								rs56112661		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:104782508_104782509insA	ENST00000357311.3	-	10	1627_1628	c.1456_1457insT	c.(1456-1458)ccafs	p.P486fs	SRPK2_ENST00000489828.1_Frame_Shift_Ins_p.P486fs|SRPK2_ENST00000393651.3_Frame_Shift_Ins_p.P497fs	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	486	Protein kinase.		S -> F (in dbSNP:rs56112661).		angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TCTGTCATGGGATGGACTGCTC	0.52													29	131	---	---	---	---					A	104782509	-	A	104782508	7	5	73	1	0	1	1	0	0	0	0	0	15250	1174	41	0	633	0	SRPK2	7	104782508	Frame_Shift_Ins	INS	-	TCGA-CN-4740-01A-01D-1434-08	1590966	104782508	54356155	75	13956											
LAMB4	22798	broad.mit.edu	37	chr7	107710183	107710183	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgcagcttggcagacaTgctgatgatcagcctttcac	10	11	9	11	0	3	3	3	2	0	1	3	3	3	3	1	1	4	4	1	1	0	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:107710183T>A	ENST00000388781.3	-	18	2355	c.2272A>T	c.(2272-2274)Atg>Ttg	p.M758L	LAMB4_ENST00000388780.3_Missense_Mutation_p.M758L|LAMB4_ENST00000205386.4_Missense_Mutation_p.M758L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	758	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGGCAGACATGCTGATGATC	0.478													36	148					0	0	0	0	A	107710183	T	A	107710183	3	1	73	1	0	0	0	0	1	0	0	0	8666	1464	51	5	3081	5	LAMB4	7	107710183	Missense_Mutation	SNP	T	TCGA-CN-4740-01A-01D-1434-08	2927675	107710183	51428480	76	13957											
ACTR3C	653857	broad.mit.edu	37	chr7	149981865	149981865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atacagcggacgccgcacatCgatggggcagttctgtatta	10	9	12	10	4	1	0	0	0	1	0	2	2	1	1	1	3	2	4	1	3	3	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:149981865C>T	ENST00000539352.1	-	6	792	c.541G>A	c.(541-543)Gat>Aat	p.D181N	ACTR3C_ENST00000252071.4_Missense_Mutation_p.D181N	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	181					regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding										CGCCGCACATCGATGGGGCAG	0.398													6	45					0	0	0	0	T	149981865	C	T	149981865	3	4	73	1	0	0	0	0	1	0	0	0	214	884	31	1	99	1	ACTR3C	7	149981865	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	42271682	149981865	9156798	77	13958											
GIMAP6	474344	broad.mit.edu	37	chr7	150325563	150325563	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccatgagaatgagcctCagtctccttggggtcttctg	6	13	10	12	0	4	2	1	2	3	1	6	3	5	2	4	2	1	0	4	2	1	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:150325563C>A	ENST00000328902.5	-	3	339	c.123G>T	c.(121-123)ctG>ctT	p.L41L	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	41							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAATGAGCCTCAGTCTCCTTG	0.517													70	740					5.96624e-29	6.85958e-29	1	0	A	150325563	C	A	150325563	2	1	73	1	0	0	0	0	0	0	0	1	6434	813	29	2		2	GIMAP6	7	150325563	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	343698	150325563	8813100	78	13959											
COL14A1	7373	broad.mit.edu	37	chr8	121228727	121228727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatgggactgaaatcaatGaggtaagttccgggacataa	15	8	12	6	1	1	3	1	2	0	1	2	5	2	5	1	3	0	2	1	3	4	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:121228727G>A	ENST00000297848.3	+	14	2005	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	COL14A1_ENST00000309791.4_Missense_Mutation_p.E579K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E484K|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	579	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.E579K(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGAAATCAATGAGGTAAGTTC	0.383													8	211					0	0	0	0	A	121228727	G	A	121228727	3	1	73	1	0	0	0	0	1	0	0	0	3701	1291	45	2	1785	2	COL14A1	8	121228727	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08		121228727	25135295	79	13960											
COL14A1	7373	broad.mit.edu	37	chr8	121243789	121243789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgggacatttctgacagcGatgtgcagcagtttagggtg	10	11	14	6	1	1	1	0	1	1	0	1	3	1	2	0	2	3	3	0	2	2	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:121243789G>A	ENST00000297848.3	+	19	2551	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N	COL14A1_ENST00000309791.4_Missense_Mutation_p.D761N|COL14A1_ENST00000247781.3_Missense_Mutation_p.D666N|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	761	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCTGACAGCGATGTGCAGCA	0.453													10	121					0	0	0	0	A	121243789	G	A	121243789	3	1	73	1	0	0	0	0	1	0	0	0	3701	1058	37	1	2351	1	COL14A1	8	121243789	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	15062	121243789	25120233	80	13961											
MAPK15	225689	broad.mit.edu	37	chr8	144803252	144803252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtccagctctctgtgcctGagtaccgcagccgcgtctat	5	10	12	14	3	2	1	0	1	2	0	4	1	3	1	4	1	4	3	4	1	2	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:144803252G>C	ENST00000338033.4	+	10	1119	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	334					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCTGTGCCTGAGTACCGCAG	0.652													4	32					0	0	0	0	C	144803252	G	C	144803252	3	2	73	1	0	0	0	0	1	0	0	0	9346	1291	45	2	1038	2	MAPK15	8	144803252	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	23559463	144803252	1560770	81	13962											
FREM1	158326	broad.mit.edu	37	chr9	14824903	14824903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttagttatataggccacctCagtttccttgacaaccaaat	12	13	5	11	0	1	1	1	1	0	0	2	1	2	1	4	1	1	2	4	1	6	6			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr9:14824903C>T	ENST00000380881.4	-	12	2787	c.1972G>A	c.(1972-1974)Gag>Aag	p.E658K	FREM1_ENST00000380880.3_Missense_Mutation_p.E657K|FREM1_ENST00000422223.2_Missense_Mutation_p.E657K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	657					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TAGGCCACCTCAGTTTCCTTG	0.408													10	65					0	0	0	0	T	14824903	C	T	14824903	3	4	73	1	0	0	0	0	1	0	0	0	6092	835	29	2	4728	2	FREM1	9	14824903	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08		14824903	126388528	82	13963											
TMEM2	23670	broad.mit.edu	37	chr9	74365204	74365204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgggacaaccttccctGgaacatagccagatgggtga	12	7	12	10	0	0	2	0	1	0	1	1	4	1	4	3	3	3	1	3	3	4	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr9:74365204G>A	ENST00000377044.4	-	2	625	c.86C>T	c.(85-87)cCa>cTa	p.P29L	TMEM2_ENST00000377066.5_Missense_Mutation_p.P29L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	29						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AACCTTCCCTGGAACATAGCC	0.517													15	88					0	0	0	0	A	74365204	G	A	74365204	3	1	73	1	0	0	0	0	1	0	0	0	16215	1348	47	4	4157	4	TMEM2	9	74365204	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	59540301	74365204	66848227	83	13964											
GDA	9615	broad.mit.edu	37	chr9	74828816	74828816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacagataaatttggacagCgggcatttgtgggcaaagtt	12	12	12	5	1	0	1	0	0	0	1	0	2	0	2	0	3	2	3	0	3	4	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr9:74828816C>T	ENST00000358399.3	+	5	580	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	GDA_ENST00000545168.1_Missense_Mutation_p.R89W|GDA_ENST00000376989.3_Missense_Mutation_p.R138W|GDA_ENST00000376986.1_Missense_Mutation_p.R121W|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.R163W	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	163					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)		ATTTGGACAGCGGGCATTTGT	0.348													14	55					0	0	0	0	T	74828816	C	T	74828816	3	4	73	1	0	0	0	0	1	0	0	0	6356	759	27	1	505	1	GDA	9	74828816	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	463612	74828816	66384615	84	13965											
RBM17	84991	broad.mit.edu	37	chr10	6139143	6139143	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagaaggcagctctcactCaggcaaaggtaaagacaagc	16	5	11	9	0	2	3	2	1	1	2	3	3	2	3	0	3	2	4	0	3	6	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:6139143C>T	ENST00000446108.1	+	2	759	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	RBM17_ENST00000379888.4_Nonsense_Mutation_p.Q39*	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	39					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AGCTCTCACTCAGGCAAAGGT	0.493													12	112					0	0	0	0	T	6139143	C	T	6139143	4	4	73	1	0	0	0	0	0	1	0	0	13201	827	29	2	117	2	RBM17	10	6139143	Nonsense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08		6139143	129395604	85	13966											
ANKRD26	22852	broad.mit.edu	37	chr10	27323939	27323939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcatcatccagttgttgtCgaagcaacatattctcactt	10	13	8	10	1	2	0	2	0	1	0	5	1	3	0	1	1	2	4	1	1	3	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:27323939C>T	ENST00000376087.4	-	24	3605	c.3440G>A	c.(3439-3441)cGa>cAa	p.R1147Q	ANKRD26_ENST00000376070.3_Missense_Mutation_p.R704Q|ANKRD26_ENST00000436985.2_Missense_Mutation_p.R1163Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1146						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CAGTTGTTGTCGAAGCAACAT	0.368													29	311					0	0	0	0	T	27323939	C	T	27323939	3	4	73	1	0	0	0	0	1	0	0	0	654	884	31	1	1736	1	ANKRD26	10	27323939	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	21184796	27323939	108210808	86	13967											
BICC1	80114	broad.mit.edu	37	chr10	60558291	60558291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccccacattatgggcacCcccacttgctaatacttcaa	11	9	5	16	0	1	0	1	0	0	0	1	0	1	0	4	1	3	2	4	1	4	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:60558291C>T	ENST00000373886.3	+	11	1503	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	BICC1_ENST00000263103.1_Missense_Mutation_p.P126L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	500					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTATGGGCACCCCCACTTGCT	0.403													14	183					0	0	0	0	T	60558291	C	T	60558291	3	4	73	1	0	0	0	0	1	0	0	0	1432	623	22	4	1541	4	BICC1	10	60558291	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	33234352	60558291	74976456	87	13968											
HK1	3098	broad.mit.edu	37	chr10	71142518	71142518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtggttaagatgctgccctCcttcgtccggagaactcccg	6	10	11	14	4	0	2	0	0	0	2	4	3	3	2	4	2	3	2	4	2	2	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:71142518C>T	ENST00000448642.2	+	15	2035	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F	HK1_ENST00000404387.2_Missense_Mutation_p.S518F|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000359426.6_Missense_Mutation_p.S514F|HK1_ENST00000360289.2_Missense_Mutation_p.S502F|HK1_ENST00000298649.3_Missense_Mutation_p.S513F			P19367	HXK1_HUMAN	hexokinase 1	514	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ATGCTGCCCTCCTTCGTCCGG	0.632													3	28					0	0	0	0	T	71142518	C	T	71142518	3	4	73	1	0	0	0	0	1	0	0	0	7240	855	30	2	1757	2	HK1	10	71142518	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	10584227	71142518	64392229	88	13969											
MYOF	26509	broad.mit.edu	37	chr10	95134520	95134521	+	Splice_Site	INS	-	-	T																															tgtagtttaaaagtcctaccINStcttcagtcagctgcattaa																										TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:95134520_95134521insT	ENST00000371501.4	-	23	2422_2423	c.2301_splice	c.e23+1	p.A767_splice	MYOF_ENST00000358334.5_Splice_Site_p.A754_splice|MYOF_ENST00000371502.4_Splice_Site_p.A767_splice|MYOF_ENST00000359263.4_Splice_Site_p.A767_splice			Q9NZM1	MYOF_HUMAN	myoferlin	767					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAAGTCCTACCTCTTCAGTCAG	0.455													14	136	---	---	---	---					T	95134521	-	T	95134520	8	5	73	1	0	1	1	0	0	0	1	0	10159	695	24	0	4012	0	MYOF	10	95134520	Splice_Site	INS	-	TCGA-CN-4740-01A-01D-1434-08	23992002	95134520	40400227	89	13970											
ERLIN1	10613	broad.mit.edu	37	chr10	101914691	101914691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctctcgggccaggaatgCagcatctagcaaataaacaa	14	9	8	10	1	2	0	0	0	2	0	4	1	2	1	1	2	4	3	1	2	6	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:101914691C>T	ENST00000421367.2	-	10	3458	c.751G>A	c.(751-753)Gca>Aca	p.A251T	ERLIN1_ENST00000407654.3_Missense_Mutation_p.A251T	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	249					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GCCAGGAATGCAGCATCTAGC	0.453													6	53					0	0	0	0	T	101914691	C	T	101914691	3	4	73	1	0	0	0	0	1	0	0	0	5270	710	25	4	303	4	ERLIN1	10	101914691	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	6780171	101914691	33620056	90	13971											
SEC23IP	11196	broad.mit.edu	37	chr10	121658241	121658241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgggaataaattcttatCtgccttctcagccaagtagt	11	14	8	8	0	3	1	1	1	3	0	4	2	3	2	2	1	2	1	2	1	6	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:121658241C>G	ENST00000369075.3	+	2	538	c.466C>G	c.(466-468)Ctg>Gtg	p.L156V	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	156	Interaction with SEC23A.|Pro-rich.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AAATTCTTATCTGCCTTCTCA	0.478													21	208					0	0	0	0	G	121658241	C	G	121658241	3	3	73	1	0	0	0	0	1	0	0	0	14080	912	32	2	472	2	SEC23IP	10	121658241	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	19743550	121658241	13876506	91	13972											
TRPM5	29850	broad.mit.edu	37	chr11	2434717	2434717	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacccacctgaaggtgatGaggttggtatagacgagggc	10	8	14	9	1	1	4	1	3	0	1	1	5	1	4	2	4	0	2	2	4	3	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:2434717G>A	ENST00000452833.1	-	13	2006	c.1998C>T	c.(1996-1998)ctC>ctT	p.L666L	TRPM5_ENST00000155858.6_Silent_p.L664L|TRPM5_ENST00000533060.1_Silent_p.L664L|TRPM5_ENST00000528453.1_Silent_p.L664L			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	664						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAAGGTGATGAGGTTGGTAT	0.682													5	17					0	0	0	0	A	2434717	G	A	2434717	2	1	73	1	0	0	0	0	0	0	0	1	16684	1277	45	2		2	TRPM5	11	2434717	Silent	SNP	G	TCGA-CN-4740-01A-01D-1434-08		2434717	132571799	92	13973											
SWAP70	23075	broad.mit.edu	37	chr11	9750966	9750966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttttgaaatcagtgcttCagataagaagaagaaacagg	17	9	10	5	0	2	5	2	1	0	4	2	6	2	5	0	1	2	1	0	1	5	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:9750966C>T	ENST00000318950.6	+	6	969	c.866C>T	c.(865-867)tCa>tTa	p.S289L	SWAP70_ENST00000447399.2_Missense_Mutation_p.S231L	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	289	PH.					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ATCAGTGCTTCAGATAAGAAG	0.318													7	75					0	0	0	0	T	9750966	C	T	9750966	3	4	73	1	0	0	0	0	1	0	0	0	15515	838	29	2	888	2	SWAP70	11	9750966	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	7316249	9750966	125255550	93	13974											
PLEKHA7	144100	broad.mit.edu	37	chr11	16812448	16812448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcaggctcactgacataCgaccgcagctccacctgtgg	9	7	10	15	2	2	1	2	1	0	0	3	2	3	1	3	2	3	4	3	2	1	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:16812448C>T	ENST00000355661.3	-	21	2959	c.2949G>A	c.(2947-2949)tcG>tcA	p.S983S	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000531066.1_Silent_p.S983S|PLEKHA7_ENST00000448080.2_Silent_p.S984S			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	983					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CACTGACATACGACCGCAGCT	0.642													3	28					0	0	0	0	T	16812448	C	T	16812448	2	4	73	1	0	0	0	0	0	0	0	1	12133	523	19	1		1	PLEKHA7	11	16812448	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	7061482	16812448	118194068	94	13975											
OR5J2	282775	broad.mit.edu	37	chr11	55944190	55944190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctttttgtggtgttcctgGtgatttacgccattaccttg	4	19	10	8	1	0	1	0	1	0	0	1	1	1	1	3	2	3	2	3	2	2	7			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:55944190G>A	ENST00000312298.1	+	1	97	c.97G>A	c.(97-99)Gtg>Atg	p.V33M		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GGTGTTCCTGGTGATTTACGC	0.403													64	284					0	0	0	0	A	55944190	G	A	55944190	3	1	73	1	0	0	0	0	1	0	0	0	11236	1261	44	4	99	4	OR5J2	11	55944190	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	39131742	55944190	79062326	95	13976											
GIF	2694	broad.mit.edu	37	chr11	59603454	59603454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggggccagggccagggttGctgggtagagttggttgtac	5	10	20	6	0	0	1	0	0	0	1	0	1	0	1	2	6	2	6	2	6	2	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:59603454G>T	ENST00000541311.1	-	7	1059	c.825C>A	c.(823-825)agC>agA	p.S275R	GIF_ENST00000257248.2_Missense_Mutation_p.S300R			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	300					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGCCAGGGTTGCTGGGTAGAG	0.473													23	245					7.07758e-08	7.68525e-08	1	0	T	59603454	G	T	59603454	3	4	73	1	0	0	0	0	1	0	0	0	6427	1310	46	4	365	4	GIF	11	59603454	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	3659264	59603454	75403062	96	13977											
TUT1	64852	broad.mit.edu	37	chr11	62358968	62358968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgccatagcgactctcCtgtaccgacaaaaacacaag	13	5	7	16	4	1	0	0	0	1	0	2	2	1	0	5	0	3	1	5	0	5	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:62358968C>T	ENST00000308436.7	-	1	141	c.104G>A	c.(103-105)aGg>aAg	p.R35K	MIR3654_ENST00000496634.2_5'UTR|TUT1_ENST00000476907.1_5'UTR	NM_022830.2	NP_073741.2	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	0					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGCGACTCTCCTGTACCGACA	0.602													11	29					0	0	0	0	T	62358968	C	T	62358968	3	4	73	1	0	0	0	0	1	0	0	0	16876	681	24	4	2670	4	TUT1	11	62358968	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	2755514	62358968	72647548	97	13978											
UCP2	7351	broad.mit.edu	37	chr11	73689376	73689376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgccagccccaagaaaCttcacagtggcagtaggggg	10	6	14	11	0	1	1	1	0	0	1	1	1	1	1	3	3	3	3	3	3	3	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:73689376C>A	ENST00000310473.3	-	3	890	c.48G>T	c.(46-48)aaG>aaT	p.K16N	UCP2_ENST00000536983.1_Missense_Mutation_p.K16N	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	16					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					CCCCAAGAAACTTCACAGTGG	0.547													19	63					1.96292e-10	2.1754e-10	1	0	A	73689376	C	A	73689376	3	1	73	1	0	0	0	0	1	0	0	0	17027	564	20	4	905	4	UCP2	11	73689376	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	11330408	73689376	61317140	98	13979											
NFRKB	4798	broad.mit.edu	37	chr11	129758675	129758675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgagaggctgacaacatCaaagaagatctcaggctagg	14	8	12	7	0	2	4	2	2	1	3	3	5	2	4	0	3	1	3	0	3	4	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:129758675C>A	ENST00000446488.3	-	3	254	c.151G>T	c.(151-153)Gat>Tat	p.D51Y	NFRKB_ENST00000524794.1_Missense_Mutation_p.D64Y|NFRKB_ENST00000524746.1_Missense_Mutation_p.D51Y|NFRKB_ENST00000304521.5_Missense_Mutation_p.D51Y|NFRKB_ENST00000526940.1_Missense_Mutation_p.D51Y	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	51					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CTGACAACATCAAAGAAGATC	0.373													3	45					0.150653	0.152785	1	0	A	129758675	C	A	129758675	3	1	73	1	0	0	0	0	1	0	0	0	10454	826	29	2	3880	2	NFRKB	11	129758675	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	56069299	129758675	5247841	99	13980											
GRIN2B	2904	broad.mit.edu	37	chr12	13906692	13906692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcccacaaagctattctcaAtggtgctgcggatcttgttt	9	13	9	10	1	2	0	1	0	2	0	3	1	2	1	1	2	4	3	1	2	3	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:13906692A>G	ENST00000279593.3	-	3	778	c.569T>C	c.(568-570)aTt>aCt	p.I190T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	190					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCTATTCTCAATGGTGCTGCG	0.463													39	125					0	0	0	0	G	13906692	A	G	13906692	3	3	73	1	0	0	0	0	1	0	0	0	6830	101	4	5	3929	5	GRIN2B	12	13906692	Missense_Mutation	SNP	A	TCGA-CN-4740-01A-01D-1434-08		13906692	119945203	100	13981											
KIF21A	55605	broad.mit.edu	37	chr12	39696848	39696848	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aataggttatccccttgaatGgttagtgcttctatgccatc	9	15	8	9	0	1	1	0	1	1	0	3	1	2	1	3	2	2	3	3	2	6	6			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:39696848G>A	ENST00000395670.3	-	35	5072	c.4653C>T	c.(4651-4653)acC>acT	p.T1551T	KIF21A_ENST00000541463.2_Silent_p.T1497T|KIF21A_ENST00000361961.3_Silent_p.T1537T|KIF21A_ENST00000361418.5_Silent_p.T1550T|KIF21A_ENST00000544797.2_Silent_p.T1513T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1550					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCCCTTGAATGGTTAGTGCTT	0.403													5	172					0	0	0	0	A	39696848	G	A	39696848	2	1	73	1	0	0	0	0	0	0	0	1	8339	1335	47	4		4	KIF21A	12	39696848	Silent	SNP	G	TCGA-CN-4740-01A-01D-1434-08	25790156	39696848	94155047	101	13982											
SP1	6667	broad.mit.edu	37	chr12	53776257	53776258	+	Frame_Shift_Del	DEL	AT	AT	-																															ctaatattcagtatcaagtaAtcccacagttccagaccgtt																										TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:53776257_53776258delAT	ENST00000426431.2	+	3	565_566	c.505_506delAT	c.(505-507)cfs	p.I169fs	SP1_ENST00000327443.4_Frame_Shift_Del_p.I176fs	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	176	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GTATCAAGTAATCCCACAGTTC	0.515													20	228	---	---	---	---					-	53776258	AT	-	53776257	7	5	73	1	0	1	0	1	0	0	0	0	15047	101	4	0	536	0	SP1	12	53776257	Frame_Shift_Del	DEL	AT	TCGA-CN-4740-01A-01D-1434-08	14079409	53776257	80075638	102	13983											
GPR84	53831	broad.mit.edu	37	chr12	54757125	54757125	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggccggcctcggatgcggtCaaagctgcaggtgcagacta	9	6	15	11	3	1	1	1	0	0	1	2	2	1	2	2	5	4	3	2	5	2	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:54757125C>G	ENST00000551809.1	-	1	1146	c.511G>C	c.(511-513)Gac>Cac	p.D171H	GPR84_ENST00000267015.3_Missense_Mutation_p.D171H|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	171						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGGATGCGGTCAAAGCTGCAG	0.572													3	80					0	0	0	0	G	54757125	C	G	54757125	3	3	73	1	0	0	0	0	1	0	0	0	6763	826	29	2	683	2	GPR84	12	54757125	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	980868	54757125	79094770	103	13984											
RBMS2	5939	broad.mit.edu	37	chr12	56975652	56975652	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctatgaccccaccacagcTcttcagaatgggtaaggttt	11	10	8	12	0	2	2	1	1	1	1	2	2	2	2	4	2	1	3	4	2	3	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:56975652T>C	ENST00000262031.5	+	8	863	c.768T>C	c.(766-768)gcT>gcC	p.A256A	RBMS2_ENST00000550726.1_Silent_p.A131A|RBMS2_ENST00000542360.1_Silent_p.A111A|RBMS2_ENST00000552247.2_Silent_p.A256A	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	256					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CCACCACAGCTCTTCAGAATG	0.433													51	264					0	0	0	0	C	56975652	T	C	56975652	2	2	73	1	0	0	0	0	0	0	0	1	13231	1538	54	5		5	RBMS2	12	56975652	Silent	SNP	T	TCGA-CN-4740-01A-01D-1434-08	2218527	56975652	76876243	104	13985											
SHMT2	6472	broad.mit.edu	37	chr12	57626045	57626045	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggatatcagccacgtccatCttcttcgagtctatgcccta	8	12	7	14	3	4	0	1	0	3	0	6	2	5	1	3	1	2	0	3	1	3	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:57626045C>G	ENST00000328923.3	+	5	1016	c.564C>G	c.(562-564)atC>atG	p.I188M	SHMT2_ENST00000553474.1_Missense_Mutation_p.I167M|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Missense_Mutation_p.I167M|SHMT2_ENST00000414700.3_Missense_Mutation_p.I167M|SHMT2_ENST00000557487.1_Missense_Mutation_p.I188M|SHMT2_ENST00000393827.4_Missense_Mutation_p.S83C	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	188						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCACGTCCATCTTCTTCGAGT	0.592													38	152					0	0	0	0	G	57626045	C	G	57626045	3	3	73	1	0	0	0	0	1	0	0	0	14374	903	32	2	582	2	SHMT2	12	57626045	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	650393	57626045	76225850	105	13986											
GLI1	2735	broad.mit.edu	37	chr12	57858619	57858619	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcacatctccaggaggCtcctacggtcatctctccat	8	10	8	15	2	3	0	1	0	2	0	7	2	5	1	3	3	2	2	3	3	1	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:57858619C>T	ENST00000228682.2	+	4	448	c.357C>T	c.(355-357)ggC>ggT	p.G119G	GLI1_ENST00000546141.1_Silent_p.G78G|GLI1_ENST00000543426.1_5'UTR	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	119					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTCCAGGAGGCTCCTACGGTC	0.587													22	123					0	0	0	0	T	57858619	C	T	57858619	2	4	73	1	0	0	0	0	0	0	0	1	6488	784	28	4		4	GLI1	12	57858619	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	232574	57858619	75993276	106	13987											
TMTC2	160335	broad.mit.edu	37	chr12	83359345	83359345	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttccccctcagctgcatAtttaaataccggtattattc	9	16	4	12	1	1	0	1	0	0	0	3	0	2	0	3	1	3	3	3	1	6	9			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:83359345A>G	ENST00000549919.1	+	7	3478	c.1673A>G	c.(1672-1674)tAt>tGt	p.Y558C	TMTC2_ENST00000321196.3_Missense_Mutation_p.Y564C|TMTC2_ENST00000548305.1_Missense_Mutation_p.Y564C			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	564						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCAGCTGCATATTTAAATACC	0.368													14	108					0	0	0	0	G	83359345	A	G	83359345	3	3	73	1	0	0	0	0	1	0	0	0	16355	449	16	5	1713	5	TMTC2	12	83359345	Missense_Mutation	SNP	A	TCGA-CN-4740-01A-01D-1434-08	25500726	83359345	50492550	107	13988											
RASSF9	9182	broad.mit.edu	37	chr12	86198832	86198832	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttttctccaaatcacacTtaacactctctaaattagag	13	14	3	11	0	3	1	1	0	2	1	5	1	3	1	1	0	2	1	1	0	5	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:86198832T>G	ENST00000361228.3	-	2	1324	c.956A>C	c.(955-957)aAg>aCg	p.K319T		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	319					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAAATCACACTTAACACTCTC	0.368													39	363					0	0	0	0	G	86198832	T	G	86198832	3	3	73	1	0	0	0	0	1	0	0	0	13175	1609	56	5	355	5	RASSF9	12	86198832	Missense_Mutation	SNP	T	TCGA-CN-4740-01A-01D-1434-08	2839487	86198832	47653063	108	13989											
SKA3	221150	broad.mit.edu	37	chr13	21742409	21742409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatctgaaagttgtggactaCgtggagacttctcagaaata	14	11	10	6	1	2	3	1	1	2	2	3	5	2	4	0	2	1	1	0	2	5	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr13:21742409C>T	ENST00000314759.5	-	4	585	c.461G>A	c.(460-462)cGt>cAt	p.R154H	SKA3_ENST00000400018.3_Missense_Mutation_p.R154H	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	154					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTGTGGACTACGTGGAGACTT	0.433													21	167					0	0	0	0	T	21742409	C	T	21742409	3	4	73	1	0	0	0	0	1	0	0	0	14442	536	19	1	848	1	SKA3	13	21742409	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08		21742409	93427469	109	13990											
CDADC1	81602	broad.mit.edu	37	chr13	49833572	49833572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgccgggcagattgctCttattaaacatgggtcaagg	11	11	11	8	1	2	1	1	0	1	1	2	1	2	1	1	3	4	2	1	3	5	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr13:49833572C>A	ENST00000251108.6	+	4	456	c.343C>A	c.(343-345)Ctt>Att	p.L115I	CDADC1_ENST00000538056.1_Missense_Mutation_p.L115I|CDADC1_ENST00000444959.1_Intron	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	115							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		GCAGATTGCTCTTATTAAACA	0.368													47	107					6.21074e-16	7.06513e-16	1	0	A	49833572	C	A	49833572	3	1	73	1	0	0	0	0	1	0	0	0	3082	913	32	2	357	2	CDADC1	13	49833572	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	28091163	49833572	65336306	110	13991											
CTSG	1511	broad.mit.edu	37	chr14	25043576	25043576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcacctctcggagtgtatCtgttcccctcctcatgctga	5	13	8	15	1	3	1	1	1	2	0	6	2	5	2	4	1	2	4	4	1	1	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:25043576C>T	ENST00000216336.2	-	4	505	c.469G>A	c.(469-471)Gat>Aat	p.D157N		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	157	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CGGAGTGTATCTGTTCCCCTC	0.637													20	139					0	0	0	0	T	25043576	C	T	25043576	3	4	73	1	0	0	0	0	1	0	0	0	4067	913	32	2	306	2	CTSG	14	25043576	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08		25043576	82305964	111	13992											
NPAS3	64067	broad.mit.edu	37	chr14	34145431	34145431	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaggtggagctgacaggCagcagtgtctttgactatgt	8	12	13	8	0	2	2	0	2	2	0	2	3	2	3	0	3	2	3	0	3	2	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:34145431C>G	ENST00000346562.2	+	5	551	c.477C>G	c.(475-477)ggC>ggG	p.G159G	NPAS3_ENST00000341321.4_Silent_p.G191G|NPAS3_ENST00000357798.5_Silent_p.G178G|NPAS3_ENST00000551008.1_Silent_p.G89G|NPAS3_ENST00000547068.1_Silent_p.G87G|NPAS3_ENST00000551492.1_Silent_p.G196G|NPAS3_ENST00000548645.1_Silent_p.G161G|NPAS3_ENST00000356141.4_Silent_p.G191G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	191	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGCTGACAGGCAGCAGTGTCT	0.537													35	167					0	0	0	0	G	34145431	C	G	34145431	2	3	73	1	0	0	0	0	0	0	0	1	10634	697	25	4		4	NPAS3	14	34145431	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	9101855	34145431	73204109	112	13993											
WDHD1	11169	broad.mit.edu	37	chr14	55457985	55457985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgactgaaatggcttttgCcggggagttggcatgggtcc	6	11	15	9	1	0	2	0	2	0	0	1	3	1	3	3	5	1	3	3	5	1	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:55457985C>T	ENST00000359167.4	-	1	115	c.26G>A	c.(25-27)gGc>gAc	p.G9D	WDHD1_ENST00000421192.1_Silent_p.R306R|WDHD1_ENST00000360586.3_Silent_p.R429R|WDHD1_ENST00000420358.2_Silent_p.R306R			O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	0						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATGGCTTTTGCCGGGGAGTTG	0.448													4	108					0	0	0	0	T	55457985	C	T	55457985	3	4	73	1	0	0	0	0	1	0	0	0	17367	726	26	4	2162	4	WDHD1	14	55457985	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	21312554	55457985	51891555	113	13994											
ARID4A	5926	broad.mit.edu	37	chr14	58831004	58831004	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgaatgatgataagctaGatgaagaaaatccaaagatt	19	11	8	3	0	0	7	0	4	0	3	1	7	1	7	1	0	1	1	1	0	7	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:58831004G>C	ENST00000355431.3	+	20	2570	c.2197G>C	c.(2197-2199)Gat>Cat	p.D733H	ARID4A_ENST00000431317.2_Missense_Mutation_p.D733H|ARID4A_ENST00000348476.3_Missense_Mutation_p.D733H|ARID4A_ENST00000395168.3_Missense_Mutation_p.D733H	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	733					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGATAAGCTAGATGAAGAAAA	0.289													15	140					0	0	0	0	C	58831004	G	C	58831004	3	2	73	1	0	0	0	0	1	0	0	0	921	942	33	2	2271	2	ARID4A	14	58831004	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	3373019	58831004	48518536	114	13995											
FLRT2	23768	broad.mit.edu	37	chr14	86089701	86089701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatcgtctccttaaataacGatcaactccttaaaggagat	15	11	6	9	2	2	2	1	0	1	2	5	4	3	2	2	1	2	0	2	1	6	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:86089701G>A	ENST00000330753.4	+	2	2610	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	FLRT2_ENST00000554746.1_Missense_Mutation_p.D615N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	615					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)		CTTAAATAACGATCAACTCCT	0.473													89	306					0	0	0	0	A	86089701	G	A	86089701	3	1	73	1	0	0	0	0	1	0	0	0	5984	1058	37	1	1845	1	FLRT2	14	86089701	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	27258697	86089701	21259839	115	13996											
RYR3	6263	broad.mit.edu	37	chr15	33936544	33936544	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgctgtctgggtctatctCagatcggccgcatgaatctc	6	13	10	12	2	5	2	1	1	5	1	8	2	5	2	1	2	1	2	1	2	2	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:33936544C>G	ENST00000389232.4	+	28	3659	c.3589C>G	c.(3589-3591)Cag>Gag	p.Q1197E	RYR3_ENST00000415757.3_Missense_Mutation_p.Q1197E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1197	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGTCTATCTCAGATCGGCCG	0.527													9	32					0	0	0	0	G	33936544	C	G	33936544	3	3	73	1	0	0	0	0	1	0	0	0	13855	827	29	2	3699	2	RYR3	15	33936544	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08		33936544	68594848	116	13997											
MAPKBP1	23005	broad.mit.edu	37	chr15	42116702	42116702	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccagcggtgagcctggagCagtgtgagcagctggtggca	8	6	18	9	1	0	2	0	2	0	0	0	3	0	3	2	4	6	4	2	4	0	0			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:42116702C>T	ENST00000457542.2	+	30	4520	c.4234C>T	c.(4234-4236)Cag>Tag	p.Q1412*	MAPKBP1_ENST00000260357.7_Nonsense_Mutation_p.Q1251*|MAPKBP1_ENST00000221214.6_Nonsense_Mutation_p.Q1295*|MAPKBP1_ENST00000514566.1_Nonsense_Mutation_p.Q1135*|MAPKBP1_ENST00000456763.2_Nonsense_Mutation_p.Q1418*	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1418										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GAGCCTGGAGCAGTGTGAGCA	0.652													5	22					0	0	0	0	T	42116702	C	T	42116702	4	4	73	1	0	0	0	0	0	1	0	0	9361	711	25	4	4370	4	MAPKBP1	15	42116702	Nonsense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	8180158	42116702	60414690	117	13998											
VPS39	23339	broad.mit.edu	37	chr15	42457994	42457994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcagagactccacttcCgggagatcttcagtaaatat	11	10	10	10	2	2	2	1	0	1	2	4	4	4	2	2	2	0	2	2	2	3	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:42457994C>T	ENST00000318006.5	-	17	1863	c.1701G>A	c.(1699-1701)ccG>ccA	p.P567P	VPS39_ENST00000348544.4_Silent_p.P578P	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	578					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACTCCACTTCCGGGAGATCTT	0.473													14	140					0	0	0	0	T	42457994	C	T	42457994	2	4	73	1	0	0	0	0	0	0	0	1	17305	639	23	1		1	VPS39	15	42457994	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	341292	42457994	60073398	118	13999											
ALPK3	57538	broad.mit.edu	37	chr15	85384080	85384080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacctcaggcctctgtgcagGtgccgacgccccctgcccgg	4	6	12	19	3	2	0	1	0	1	0	2	1	2	0	6	3	3	1	6	3	0	0			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:85384080G>T	ENST00000258888.5	+	5	2343	c.2176G>T	c.(2176-2178)Gtg>Ttg	p.V726L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	726					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTGTGCAGGTGCCGACGCC	0.637													18	52					1.02788e-11	1.15102e-11	1	0	T	85384080	G	T	85384080	3	4	73	1	0	0	0	0	1	0	0	0	546	1261	44	4	2194	4	ALPK3	15	85384080	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	42926086	85384080	17147312	119	14000											
BLM	641	broad.mit.edu	37	chr15	91347415	91347415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtagactttatggaaacaGaaaattccagcagtgtgaaa	17	9	10	5	0	0	3	0	1	0	2	1	4	1	4	1	2	2	2	1	2	6	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:91347415G>C	ENST00000355112.3	+	19	3695	c.3577G>C	c.(3577-3579)Gaa>Caa	p.E1193Q	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1193					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TATGGAAACAGAAAATTCCAG	0.373			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				7	85					0	0	0	0	C	91347415	G	C	91347415	3	2	73	1	0	0	0	0	1	0	0	0	1450	943	33	2	3647	2	BLM	15	91347415	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	5963335	91347415	11183977	120	14001											
IGF1R	3480	broad.mit.edu	37	chr15	99500474	99500474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagagaacatggagagcGtccccctggacccctcggcc	9	4	12	16	2	0	2	0	0	0	2	2	5	1	3	6	3	3	0	6	3	1	0	rs45475702		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:99500474G>A	ENST00000268035.6	+	21	4518	c.3907G>A	c.(3907-3909)Gtc>Atc	p.V1303I	RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.V1302I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1303					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CATGGAGAGCGTCCCCCTGGA	0.667													11	54					0	0	0	0	A	99500474	G	A	99500474	3	1	73	1	0	0	0	0	1	0	0	0	7624	1145	40	1	3989	1	IGF1R	15	99500474	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	8153059	99500474	3030918	121	14002											
TMEM8A	58986	broad.mit.edu	37	chr16	426741	426741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggtgagacgcacggggcagCccaggctcccattggacacg	8	4	15	14	4	0	1	0	1	0	1	1	3	1	2	2	5	1	3	2	5	0	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:426741C>A	ENST00000431232.2	-	5	867	c.707G>T	c.(706-708)gGc>gTc	p.G236V	TMEM8A_ENST00000250930.3_Missense_Mutation_p.G43V	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	236					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CACGGGGCAGCCCAGGCTCCC	0.682													13	29					3.27435e-08	3.57353e-08	1	0	A	426741	C	A	426741	3	1	73	1	0	0	0	0	1	0	0	0	16308	739	26	4	1644	4	TMEM8A	16	426741	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08		426741	89928012	122	14003											
CREBBP	1387	broad.mit.edu	37	chr16	3820844	3820844	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccaggtggtgtcgtgtgctgGagagatggcatgccagcagc	7	8	17	9	1	0	1	0	0	0	1	1	3	0	2	2	4	4	3	2	4	0	0			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:3820844G>C	ENST00000262367.5	-	14	3416	c.2607C>G	c.(2605-2607)ctC>ctG	p.L869L	CREBBP_ENST00000382070.3_Silent_p.L831L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	869					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGTGTGCTGGAGAGATGGCA	0.642			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						15	85					0	0	0	0	C	3820844	G	C	3820844	2	2	73	1	0	0	0	0	0	0	0	1	3891	1161	41	2		2	CREBBP	16	3820844	Silent	SNP	G	TCGA-CN-4740-01A-01D-1434-08	3394103	3820844	86533909	123	14004											
COG7	91949	broad.mit.edu	37	chr16	23428348	23428348	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccccaggccattggtgaatCtgacgcatctgtcaacggct	8	10	10	13	2	3	2	1	2	2	0	4	2	4	2	3	3	1	2	3	3	2	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:23428348C>G	ENST00000307149.5	-	9	1417	c.1232G>C	c.(1231-1233)aGa>aCa	p.R411T		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	411					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		ATTGGTGAATCTGACGCATCT	0.582													7	109					0	0	0	0	G	23428348	C	G	23428348	3	3	73	1	0	0	0	0	1	0	0	0	3693	913	32	2	1116	2	COG7	16	23428348	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	19607504	23428348	66926405	124	14005											
KIFC3	3801	broad.mit.edu	37	chr16	57829031	57829031	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggagtcctcgtcaccgcaGactggggtatcttttccacg	6	11	11	13	3	2	1	1	0	1	1	5	2	4	2	3	3	0	2	3	3	1	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:57829031G>C	ENST00000379655.4	-	3	452	c.195C>G	c.(193-195)gtC>gtG	p.V65V	KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000566975.1_5'UTR|KIFC3_ENST00000539578.1_5'UTR|KIFC3_ENST00000465878.2_5'UTR|KIFC3_ENST00000541240.1_Silent_p.V87V|KIFC3_ENST00000445690.2_Silent_p.V65V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	65					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CGTCACCGCAGACTGGGGTAT	0.647													6	53					0	0	0	0	C	57829031	G	C	57829031	2	2	73	1	0	0	0	0	0	0	0	1	8365	929	33	2		2	KIFC3	16	57829031	Silent	SNP	G	TCGA-CN-4740-01A-01D-1434-08	34400683	57829031	32525722	125	14006											
HYDIN	54768	broad.mit.edu	37	chr16	70841774	70841774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgagaagggaccttggggCttgggaggcagagccattcc	9	7	16	9	1	0	2	0	0	0	2	2	5	1	4	3	5	1	2	3	5	1	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:70841774C>T	ENST00000393567.2	-	86	15225	c.15075G>A	c.(15073-15075)aaG>aaA	p.K5025K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5025										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GACCTTGGGGCTTGGGAGGCA	0.542													7	115					0	0	0	0	T	70841774	C	T	70841774	2	4	73	1	0	0	0	0	0	0	0	1	7520	796	28	4		4	HYDIN	16	70841774	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	13012743	70841774	19512979	126	14007											
MBTPS1	8720	broad.mit.edu	37	chr16	84093017	84093017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctccagaaccttggagtaCcgatgaagatggtttcctgt	9	11	11	10	1	0	3	0	1	0	2	2	5	2	4	5	2	2	2	5	2	3	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:84093017C>T	ENST00000343411.3	-	21	3216	c.2721G>A	c.(2719-2721)cgG>cgA	p.R907R		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	907					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCTTGGAGTACCGATGAAGAT	0.468													3	52					0	0	0	0	T	84093017	C	T	84093017	2	4	73	1	0	0	0	0	0	0	0	1	9430	494	18	4		4	MBTPS1	16	84093017	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	13251243	84093017	6261736	127	14008											
TSR1	55720	broad.mit.edu	37	chr17	2237843	2237843	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtctccgggggcatctaTctgtttcatctggaaatcac	8	12	11	10	1	6	0	2	0	4	0	7	1	6	1	1	4	0	2	1	4	2	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:2237843T>C	ENST00000301364.4	-	5	1983	c.904A>G	c.(904-906)Ata>Gta	p.I302V		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	302					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGGGCATCTATCTGTTTCATC	0.443													84	290					0	0	0	0	C	2237843	T	C	2237843	3	2	73	1	0	0	0	0	1	0	0	0	16759	1435	50	5	1554	5	TSR1	17	2237843	Missense_Mutation	SNP	T	TCGA-CN-4740-01A-01D-1434-08		2237843	78957367	128	14009											
TP53	7157	broad.mit.edu	37	chr17	7578524	7578524	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcaggtcttggccagttGgcaaaacatcttgttgaggg	9	10	15	7	0	2	1	0	1	2	0	2	1	2	1	1	5	1	4	1	5	2	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:7578524G>A	ENST00000420246.2	-	5	538	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q136*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGGCCAGTTGGCAAAACATC	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	58					0	0	0	0	A	7578524	G	A	7578524	4	1	73	1	0	0	0	0	0	1	0	0	16476	1357	47	4	892	4	TP53	17	7578524	Nonsense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	5340681	7578524	73616686	129	14010											
TP53	7157	broad.mit.edu	37	chr17	7579591	7579591	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgggacggcaagggggaCtgtagatgggtgaaaagagc	11	6	19	5	1	0	3	0	1	0	2	0	5	0	5	0	5	1	3	0	5	4	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:7579591C>T	ENST00000420246.2	-	4	229		c.e4-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAGGGGGACTGTAGATGGG	0.592		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	224					0	0	0	0	T	7579591	C	T	7579591	5	4	73	1	0	0	0	0	0	0	1	0	16476	579	20	4	1206	4	TP53	17	7579591	Splice_Site	SNP	C	TCGA-CN-4740-01A-01D-1434-08	1067	7579591	73615619	130	14011											
ZNF286A	57335	broad.mit.edu	37	chr17	15611559	15611559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcccccaaaagcagctattCaggtgagccagatagatggg	13	6	12	10	0	1	3	1	1	0	2	1	3	1	3	3	2	4	2	3	2	4	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:15611559C>T	ENST00000464847.2	+	4	885	c.332C>T	c.(331-333)tCa>tTa	p.S111L	ZNF286A_ENST00000585194.1_Missense_Mutation_p.S111L|ZNF286A_ENST00000413242.2_Missense_Mutation_p.S111L|ZNF286A_ENST00000395893.2_Missense_Mutation_p.S111L|ZNF286A_ENST00000395894.2_Missense_Mutation_p.S111L|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000593105.1_Missense_Mutation_p.S101L|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000580259.1_3'UTR|ZNF286A_ENST00000583566.1_Missense_Mutation_p.S111L|ZNF286A_ENST00000421016.1_Missense_Mutation_p.S111L|ZNF286A_ENST00000472486.1_Missense_Mutation_p.S101L			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	111	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AGCAGCTATTCAGGTGAGCCA	0.423													11	57					0	0	0	0	T	15611559	C	T	15611559	3	4	73	1	0	0	0	0	1	0	0	0	17918	838	29	2	346	2	ZNF286A	17	15611559	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	8031968	15611559	65583651	131	14012											
TP53I13	90313	broad.mit.edu	37	chr17	27896346	27896346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatgtataggtgtcaccaaGagtgacctacacacgagtga	13	8	10	10	1	1	3	1	2	0	1	1	4	1	3	3	1	1	1	3	1	4	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:27896346G>A	ENST00000301057.7	+	3	267	c.152G>A	c.(151-153)aGa>aAa	p.R51K	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	51						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GTGTCACCAAGAGTGACCTAC	0.632													4	38					0	0	0	0	A	27896346	G	A	27896346	3	1	73	1	0	0	0	0	1	0	0	0	16481	942	33	2	162	2	TP53I13	17	27896346	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	12284787	27896346	53298864	132	14013											
SSH2	85464	broad.mit.edu	37	chr17	27958830	27958830	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggctgctgcctctgtcttCagggctactcaggatggagg	6	10	14	11	0	4	0	2	0	2	0	4	2	4	2	1	5	3	3	1	5	1	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:27958830C>G	ENST00000269033.3	-	15	3452	c.3301G>C	c.(3301-3303)Gaa>Caa	p.E1101Q	SSH2_ENST00000540801.1_Missense_Mutation_p.E1128Q|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1101					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTGTCTTCAGGGCTACTC	0.547													12	116					0	0	0	0	G	27958830	C	G	27958830	3	3	73	1	0	0	0	0	1	0	0	0	15275	835	29	2	974	2	SSH2	17	27958830	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	62484	27958830	53236380	133	14014											
SLFN13	146857	broad.mit.edu	37	chr17	33770858	33770858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgttccagacctttcttaGaatacactggtctgcaaagt	10	14	8	9	0	2	2	0	0	2	2	3	2	3	2	2	1	2	2	2	1	4	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:33770858G>A	ENST00000285013.6	-	4	1423	c.1148C>T	c.(1147-1149)tCt>tTt	p.S383F	SLFN13_ENST00000360502.2_Missense_Mutation_p.S65F|SLFN13_ENST00000542635.1_Missense_Mutation_p.S383F|SLFN13_ENST00000534689.1_Missense_Mutation_p.S65F|SLFN13_ENST00000533791.1_Missense_Mutation_p.S383F|SLFN13_ENST00000526861.1_Missense_Mutation_p.S383F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	383						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACCTTTCTTAGAATACACTGG	0.398													10	96					0	0	0	0	A	33770858	G	A	33770858	3	1	73	1	0	0	0	0	1	0	0	0	14824	942	33	2	1557	2	SLFN13	17	33770858	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	5812028	33770858	47424352	134	14015											
MED1	5469	broad.mit.edu	37	chr17	37563769	37563769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atccataagatcatcatcttCctccccaatcataaagtctg	13	12	3	13	0	5	1	3	0	2	1	8	1	8	1	4	0	0	0	4	0	4	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:37563769C>T	ENST00000300651.6	-	17	4928	c.4705G>A	c.(4705-4707)Gaa>Aaa	p.E1569K	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1569					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCATCATCTTCCTCCCCAATC	0.413										HNSCC(31;0.082)			28	96					0	0	0	0	T	37563769	C	T	37563769	3	4	73	1	0	0	0	0	1	0	0	0	9494	864	30	2	44	2	MED1	17	37563769	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	3792911	37563769	43631441	135	14016											
ABCA10	10349	broad.mit.edu	37	chr17	67149444	67149444	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttaatattcactctccttAccacatttgctgctgcccct	8	15	3	15	0	2	0	1	0	1	0	3	0	2	0	4	0	4	2	4	0	3	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:67149444A>T	ENST00000269081.4	-	35	5046		c.e35+1		ABCA10_ENST00000519732.1_Splice_Site|ABCA10_ENST00000416101.2_Splice_Site	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10						transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CACTCTCCTTACCACATTTGC	0.453													15	161					0	0	0	0	T	67149444	A	T	67149444	5	4	73	1	0	0	0	0	0	0	1	0	29	405	14	5	517	5	ABCA10	17	67149444	Splice_Site	SNP	A	TCGA-CN-4740-01A-01D-1434-08	29585675	67149444	14045766	136	14017											
SSTR2	6752	broad.mit.edu	37	chr17	71166496	71166496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagtgacagtaagcaggaCaaatcccggctgaatgagac	14	5	13	9	2	0	3	0	3	0	1	1	6	1	5	1	3	1	3	1	3	3	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:71166496C>A	ENST00000357585.2	+	2	1407	c.1038C>A	c.(1036-1038)gaC>gaA	p.D346E	SSTR2_ENST00000315332.2_Intron|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	346					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			GTAAGCAGGACAAATCCCGGC	0.537													37	99					6.84511e-11	7.62538e-11	1	0	A	71166496	C	A	71166496	3	1	73	1	0	0	0	0	1	0	0	0	15288	477	17	4	1040	4	SSTR2	17	71166496	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	4017052	71166496	10028714	137	14018											
DNAH17	8632	broad.mit.edu	37	chr17	76570998	76570998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaccagcacctggacgtCgggcttttcaaagaactctg	10	8	10	13	2	2	1	1	0	1	1	3	2	2	2	2	2	3	3	2	2	2	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:76570998C>T	ENST00000389840.5	-	2	266	c.142G>A	c.(142-144)Gac>Aac	p.D48N	DNAH17_ENST00000585328.1_Missense_Mutation_p.D48N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACCTGGACGTCGGGCTTTTCA	0.562													14	67					0	0	0	0	T	76570998	C	T	76570998	3	4	73	1	0	0	0	0	1	0	0	0	4638	884	31	1	13566	1	DNAH17	17	76570998	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	5404502	76570998	4624212	138	14019											
BAIAP2	10458	broad.mit.edu	37	chr17	79058642	79058642	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttcccaggagacgttctCttccagatggctgaagtcca	8	11	10	12	1	1	3	0	1	1	2	5	4	4	3	3	2	1	3	3	2	1	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:79058642C>T	ENST00000321300.6	+	4	321	c.228C>T	c.(226-228)ctC>ctT	p.L76L	BAIAP2_ENST00000435091.3_Silent_p.L76L|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000428708.2_Silent_p.L76L|BAIAP2_ENST00000392411.3_5'UTR|BAIAP2_ENST00000575712.1_Silent_p.L76L|BAIAP2_ENST00000321280.7_Silent_p.L76L|BAIAP2_ENST00000575245.1_Silent_p.L109L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	76	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGACGTTCTCTTCCAGATGG	0.622													35	298					0	0	0	0	T	79058642	C	T	79058642	2	4	73	1	0	0	0	0	0	0	0	1	1305	900	32	2		2	BAIAP2	17	79058642	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	2487644	79058642	2136568	139	14020											
SMCHD1	23347	broad.mit.edu	37	chr18	2732357	2732357	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcagtgtagaaggacaaaAggcaattcagatcaaacatc	18	8	8	7	0	3	2	3	0	0	2	4	3	3	3	0	2	1	2	0	2	6	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:2732357A>T	ENST00000320876.6	+	25	3481	c.3143A>T	c.(3142-3144)aAg>aTg	p.K1048M	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.K1048M	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1048					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GAAGGACAAAAGGCAATTCAG	0.368													18	121					0	0	0	0	T	2732357	A	T	2732357	3	4	73	1	0	0	0	0	1	0	0	0	14876	72	3	5	3241	5	SMCHD1	18	2732357	Missense_Mutation	SNP	A	TCGA-CN-4740-01A-01D-1434-08		2732357	75344891	140	14021											
FECH	2235	broad.mit.edu	37	chr18	55218580	55218580	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttccattaagagactcAgctcttctgatgttttcaac	10	15	7	9	0	4	2	2	1	2	1	5	4	5	3	1	1	2	2	1	1	2	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:55218580A>G	ENST00000262093.5	-	10	1255	c.1104T>C	c.(1102-1104)gcT>gcC	p.A368A	FECH_ENST00000382873.3_Silent_p.A374A	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	368					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				TAAGAGACTCAGCTCTTCTGA	0.343													6	75					0	0	0	0	G	55218580	A	G	55218580	2	3	73	1	0	0	0	0	0	0	0	1	5853	175	7	5		5	FECH	18	55218580	Silent	SNP	A	TCGA-CN-4740-01A-01D-1434-08	52486223	55218580	22858668	141	14022											
ALPK2	115701	broad.mit.edu	37	chr18	56203584	56203584	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaacagcatctgcctttaGactatcaggtacagcccaga	13	8	7	13	0	2	2	1	0	1	2	2	2	2	2	2	1	5	2	2	1	4	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:56203584G>A	ENST00000361673.3	-	5	4048	c.3835C>T	c.(3835-3837)Cta>Tta	p.L1279L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1279							ATP binding|protein serine/threonine kinase activity			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						TCTGCCTTTAGACTATCAGGT	0.502													29	237					0	0	0	0	A	56203584	G	A	56203584	2	1	73	1	0	0	0	0	0	0	0	1	545	933	33	2		2	ALPK2	18	56203584	Silent	SNP	G	TCGA-CN-4740-01A-01D-1434-08	985004	56203584	21873664	142	14023											
ALPK2	115701	broad.mit.edu	37	chr18	56203904	56203904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgcgggtgagtgggccGtgggcaccaagtttctttcc	5	11	15	10	2	1	1	0	1	1	0	2	1	2	1	3	3	2	3	3	3	1	3	rs140868694	byFrequency	TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:56203904G>A	ENST00000361673.3	-	5	3728	c.3515C>T	c.(3514-3516)aCg>aTg	p.T1172M	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1172							ATP binding|protein serine/threonine kinase activity			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						TGAGTGGGCCGTGGGCACCAA	0.577													6	131					0	0	0	0	A	56203904	G	A	56203904	3	1	73	1	0	0	0	0	1	0	0	0	545	1145	40	1	3033	1	ALPK2	18	56203904	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	320	56203904	21873344	143	14024											
CD209	30835	broad.mit.edu	37	chr19	7809920	7809920	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccgctgggagttagacatGaagtaacagtttccttggaa	11	12	11	7	1	0	2	0	1	0	1	2	4	2	4	2	2	1	4	2	2	4	5			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:7809920G>A	ENST00000315599.7	-	5	829	c.807C>T	c.(805-807)ttC>ttT	p.F269F	CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Silent_p.F269F|CD209_ENST00000593821.1_Silent_p.F133F|CD209_ENST00000315591.8_Silent_p.F245F|CD209_ENST00000601256.1_Silent_p.F245F|CD209_ENST00000394173.4_Silent_p.F108F|CD209_ENST00000601951.1_Silent_p.F245F|CD209_ENST00000593660.1_Silent_p.F199F|CD209_ENST00000301357.8_Silent_p.F133F|CD209_ENST00000602261.1_Silent_p.F177F|CD209_ENST00000204801.8_Silent_p.F225F	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	269	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGTTAGACATGAAGTAACAGT	0.562													20	124					0	0	0	0	A	7809920	G	A	7809920	2	1	73	1	0	0	0	0	0	0	0	1	3013	1281	45	2		2	CD209	19	7809920	Silent	SNP	G	TCGA-CN-4740-01A-01D-1434-08		7809920	51319063	144	14025											
KRI1	65095	broad.mit.edu	37	chr19	10664771	10664771	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcacagtggggcccagcagCcgtgccttcttggccctcct	5	9	11	16	1	2	0	1	0	1	0	3	0	3	0	5	3	3	1	5	3	0	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:10664771C>T	ENST00000312962.6	-	19	2005	c.1986G>A	c.(1984-1986)cgG>cgA	p.R662R	KRI1_ENST00000361821.5_Silent_p.R658R	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	662										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGCCCAGCAGCCGTGCCTTCT	0.647													16	187					0	0	0	0	T	10664771	C	T	10664771	2	4	73	1	0	0	0	0	0	0	0	1	8496	726	26	4		4	KRI1	19	10664771	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	2854851	10664771	48464212	145	14026											
KRI1	65095	broad.mit.edu	37	chr19	10665764	10665764	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagccagcactgcttactCttctcggcagagtgacttga	8	10	9	14	1	2	3	0	2	2	1	3	3	2	3	2	1	4	3	2	1	1	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:10665764C>G	ENST00000312962.6	-	18	1817	c.1799_splice	c.e18+1	p.E600_splice	KRI1_ENST00000361821.5_Splice_Site_p.E596_splice	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	600										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			actgcttactcttctCGGCAG	0.592													7	83					0	0	0	0	G	10665764	C	G	10665764	5	3	73	1	0	0	0	0	0	0	1	0	8496	927	32	2	339	2	KRI1	19	10665764	Splice_Site	SNP	C	TCGA-CN-4740-01A-01D-1434-08	993	10665764	48463219	146	14027											
TNPO2	30000	broad.mit.edu	37	chr19	12817445	12817445	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtttgagcagctctgtcaTcaggggcttgaggtgcatgt	6	12	15	8	1	3	2	2	2	1	0	3	2	3	2	0	3	3	5	0	3	0	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:12817445T>A	ENST00000425528.1	-	14	1792	c.1435A>T	c.(1435-1437)Atg>Ttg	p.M479L	TNPO2_ENST00000441499.1_Missense_Mutation_p.M479L|TNPO2_ENST00000356861.5_Missense_Mutation_p.M479L|TNPO2_ENST00000592287.1_Missense_Mutation_p.M479L|TNPO2_ENST00000450764.2_Missense_Mutation_p.M479L|TNPO2_ENST00000588216.1_Missense_Mutation_p.M479L			O14787	TNPO2_HUMAN	transportin 2	479					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCTCTGTCATCAGGGGCTTG	0.637													14	54					0	0	0	0	A	12817445	T	A	12817445	3	1	73	1	0	0	0	0	1	0	0	0	16430	1435	50	5	1306	5	TNPO2	19	12817445	Missense_Mutation	SNP	T	TCGA-CN-4740-01A-01D-1434-08	2151681	12817445	46311538	147	14028											
WDR62	284403	broad.mit.edu	37	chr19	36562559	36562559	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccatagcctgcactacctCgccaacctgcccaagccaca	10	5	6	20	1	0	0	0	0	0	0	1	0	0	0	7	0	6	1	7	0	4	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:36562559C>T	ENST00000401500.2	+	8	1019	c.984C>T	c.(982-984)ctC>ctT	p.L328L	WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Silent_p.L328L|WDR62_ENST00000270301.7_Silent_p.L328L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	328					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGCACTACCTCGCCAACCTGC	0.622													10	93					0	0	0	0	T	36562559	C	T	36562559	2	4	73	1	0	0	0	0	0	0	0	1	17409	871	31	1		1	WDR62	19	36562559	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	23745114	36562559	22566424	148	14029											
ATP1A3	478	broad.mit.edu	37	chr19	42471887	42471887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagccagggccgtctcctCaaacagcccgaagatcagga	11	4	12	14	2	3	1	2	0	1	1	4	3	3	2	4	3	3	1	4	3	2	0			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:42471887C>T	ENST00000545399.1	-	21	3040	c.2887G>A	c.(2887-2889)Gag>Aag	p.E963K	ATP1A3_ENST00000302102.5_Missense_Mutation_p.E950K|ATP1A3_ENST00000602133.1_Missense_Mutation_p.E920K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E961K	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	950					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCCGTCTCCTCAAACAGCCCG	0.667													6	47					0	0	0	0	T	42471887	C	T	42471887	3	4	73	1	0	0	0	0	1	0	0	0	1134	835	29	2	205	2	ATP1A3	19	42471887	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	5909328	42471887	16657096	149	14030											
RPS5	6193	broad.mit.edu	37	chr19	58899511	58899511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caccctgtcccaggatgaccGagtgggagacagcagcacca	11	4	12	14	1	0	2	0	1	0	1	1	5	1	3	4	2	2	2	4	2	0	0			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:58899511G>C	ENST00000596046.1	+	1	856	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	RPS5_ENST00000196551.3_Missense_Mutation_p.E3Q|RPS5_ENST00000598495.1_Missense_Mutation_p.E3Q|RPS5_ENST00000598098.1_Missense_Mutation_p.E3Q|RPS5_ENST00000601521.1_Missense_Mutation_p.E3Q			P46782	RS5_HUMAN	ribosomal protein S5	3					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		CAGGATGACCGAGTGGGAGAC	0.552													5	35					0	0	0	0	C	58899511	G	C	58899511	3	2	73	1	0	0	0	0	1	0	0	0	13733	1059	37	3	9	3	RPS5	19	58899511	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	16427624	58899511	229472	150	14031											
ZBTB45	84878	broad.mit.edu	37	chr19	59028386	59028386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttcgccatcctcgccatCggtctcatcgtcactttcct	5	13	5	18	4	2	0	2	0	1	0	9	0	4	0	5	1	0	0	5	1	0	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:59028386C>T	ENST00000594051.1	-	2	1135	c.655G>A	c.(655-657)Gat>Aat	p.D219N	ZBTB45_ENST00000354590.3_Missense_Mutation_p.D219N|ZBTB45_ENST00000600990.1_Missense_Mutation_p.D219N			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TCCTCGCCATCGGTCTCATCG	0.647											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	529					0	0	0	0	T	59028386	C	T	59028386	3	4	73	1	0	0	0	0	1	0	0	0	17641	884	31	1	888	1	ZBTB45	19	59028386	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	128875	59028386	100597	151	14032											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673302	3673302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaccctcctgcagccaaCgaccgttgtggtaccaagta	9	8	10	14	2	0	0	0	0	0	0	1	2	1	1	5	2	4	4	5	2	4	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:3673302C>T	ENST00000344754.4	-	15	3895	c.3896G>A	c.(3895-3897)cGt>cAt	p.R1299H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1299H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1299	Ig-like C2-type 13.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTGCAGCCAACGACCGTTGTG	0.657													12	55					0	0	0	0	T	3673302	C	T	3673302	3	4	73	1	0	0	0	0	1	0	0	0	14393	536	19	1	1261	1	SIGLEC1	20	3673302	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08		3673302	59352218	152	14033											
JAG1	182	broad.mit.edu	37	chr20	10625009	10625009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggatgtcacacttaccaggGatgagggctgcagtcattgg	10	9	14	8	0	2	1	2	1	0	0	2	3	2	3	1	4	2	2	1	4	1	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:10625009G>A	ENST00000254958.5	-	19	2883	c.2368C>T	c.(2368-2370)Ccc>Tcc	p.P790S	JAG1_ENST00000423891.2_Missense_Mutation_p.P631S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	790	EGF-like 15; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACTTACCAGGGATGAGGGCTG	0.463									Alagille Syndrome				4	41					0	0	0	0	A	10625009	G	A	10625009	3	1	73	1	0	0	0	0	1	0	0	0	7987	1174	41	2	1320	2	JAG1	20	10625009	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	6951707	10625009	52400511	153	14034											
SUN5	140732	broad.mit.edu	37	chr20	31572920	31572920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtacctggagtgggaacatCtggatgatgttttctggctg	7	13	15	6	0	2	1	0	1	2	0	2	4	2	4	1	5	2	3	1	5	2	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:31572920C>T	ENST00000356173.3	-	12	1061	c.969G>A	c.(967-969)caG>caA	p.Q323Q	SUN5_ENST00000375523.3_Silent_p.Q298Q	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	323	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GTGGGAACATCTGGATGATGT	0.577													17	153					0	0	0	0	T	31572920	C	T	31572920	2	4	73	1	0	0	0	0	0	0	0	1	15484	912	32	2		2	SUN5	20	31572920	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	20947911	31572920	31452600	154	14035											
RBL1	5933	broad.mit.edu	37	chr20	35696492	35696492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatattacagtagacacctCaaaatttctctctagccttt	13	14	4	10	0	3	1	1	0	2	1	4	2	3	1	2	0	2	1	2	0	7	6			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:35696492C>T	ENST00000373664.3	-	3	454	c.388G>A	c.(388-390)Gag>Aag	p.E130K	RBL1_ENST00000344359.3_Missense_Mutation_p.E130K	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	130					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GTAGACACCTCAAAATTTCTC	0.313													8	69					0	0	0	0	T	35696492	C	T	35696492	3	4	73	1	0	0	0	0	1	0	0	0	13191	835	29	2	2907	2	RBL1	20	35696492	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	4123572	35696492	27329028	155	14036											
PTPRT	11122	broad.mit.edu	37	chr20	41408885	41408885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgagcaaggacccggacctCgtccacggcgatgtagccag	10	5	13	13	4	0	1	0	1	0	0	2	4	1	3	4	3	2	2	4	3	2	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:41408885C>T	ENST00000373198.3	-	4	776	c.541G>A	c.(541-543)Gag>Aag	p.E181K	PTPRT_ENST00000373184.1_Missense_Mutation_p.E181K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E181K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E181K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E181K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E181K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E181K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	181	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)				ACCCGGACCTCGTCCACGGCG	0.527													12	156					0	0	0	0	T	41408885	C	T	41408885	3	4	73	1	0	0	0	0	1	0	0	0	12894	893	31	1	3957	1	PTPRT	20	41408885	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	5712393	41408885	21616635	156	14037											
LIPI	149998	broad.mit.edu	37	chr21	15537706	15537706	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggttgcatttaatgaattGaattccttaagggttaaaaa	14	15	9	3	0	0	2	0	2	0	0	1	2	1	2	1	2	1	3	1	2	7	7			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr21:15537706G>C	ENST00000344577.2	-	6	827	c.802C>G	c.(802-804)Caa>Gaa	p.Q268E	LIPI_ENST00000536861.1_Missense_Mutation_p.Q247E	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	247					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTAATGAATTGAATTCCTTAA	0.303													8	105					0	0	0	0	C	15537706	G	C	15537706	3	2	73	1	0	0	0	0	1	0	0	0	8880	1299	45	2	663	2	LIPI	21	15537706	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08		15537706	32592189	157	14038											
CECR2	27443	broad.mit.edu	37	chr22	18020172	18020172	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaacattttcctggagaaGatggagacacagatgaagaa	17	8	11	5	0	0	7	0	2	0	5	1	9	1	7	1	2	1	0	1	2	4	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:18020172G>C	ENST00000262608.8	+	13	1504	c.1504G>C	c.(1504-1506)Gat>Cat	p.D502H	CECR2_ENST00000400573.4_Missense_Mutation_p.D501H|CECR2_ENST00000400585.2_Missense_Mutation_p.D360H	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	543	Bromo.				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCCTGGAGAAGATGGAGACAC	0.463													7	14					0	0	0	0	C	18020172	G	C	18020172	3	2	73	1	0	0	0	0	1	0	0	0	3235	942	33	2	1553	2	CECR2	22	18020172	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08		18020172	33284394	158	14039											
LZTR1	8216	broad.mit.edu	37	chr22	21347982	21347982	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaaatgcacgctgcacgAggactacgggcggctgtggg	8	6	15	12	4	0	0	0	0	0	0	0	2	0	1	1	4	3	4	1	4	3	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:21347982A>T	ENST00000215739.8	+	12	1651	c.1292A>T	c.(1291-1293)gAg>gTg	p.E431V	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.E412V	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	431					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGCTGCACGAGGACTACGGG	0.637													11	43					0	0	0	0	T	21347982	A	T	21347982	3	4	73	1	0	0	0	0	1	0	0	0	9202	304	11	5	1338	5	LZTR1	22	21347982	Missense_Mutation	SNP	A	TCGA-CN-4740-01A-01D-1434-08	3327810	21347982	29956584	159	14040											
GAL3ST1	9514	broad.mit.edu	37	chr22	30953272	30953272	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggccaggccggcatgcagCgggggcacggcataggagta	9	3	19	10	3	0	0	0	0	0	0	0	2	0	1	2	7	2	5	2	7	2	2			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:30953272C>T	ENST00000402321.1	-	2	425	c.108G>A	c.(106-108)ccG>ccA	p.P36P	GAL3ST1_ENST00000402369.1_Silent_p.P36P|GAL3ST1_ENST00000401975.1_Silent_p.P36P|GAL3ST1_ENST00000406361.1_Silent_p.P36P|GAL3ST1_ENST00000443111.2_Silent_p.P36P|GAL3ST1_ENST00000338911.5_Silent_p.P36P|GAL3ST1_ENST00000406955.1_Silent_p.P36P			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	36					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CGGCATGCAGCGGGGGCACGG	0.647													9	116					0	0	0	0	T	30953272	C	T	30953272	2	4	73	1	0	0	0	0	0	0	0	1	6246	755	27	1		1	GAL3ST1	22	30953272	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	9605290	30953272	20351294	160	14041											
NAGA	4668	broad.mit.edu	37	chr22	42456988	42456988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagtggtagcgataaggCatatcggtcctgcagctgaa	11	8	15	7	2	0	1	0	1	0	0	2	4	1	2	1	4	3	4	1	4	4	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:42456988C>T	ENST00000396398.3	-	8	1573	c.1041G>A	c.(1039-1041)atG>atA	p.M347I	NAGA_ENST00000403363.1_Missense_Mutation_p.M347I|NAGA_ENST00000402937.1_Missense_Mutation_p.M347I	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	347					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGCGATAAGGCATATCGGTCC	0.567													15	116					0	0	0	0	T	42456988	C	T	42456988	3	4	73	1	0	0	0	0	1	0	0	0	10211	710	25	4	202	4	NAGA	22	42456988	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	11503716	42456988	8847578	161	14042											
CELSR1	9620	broad.mit.edu	37	chr22	46787152	46787152	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtggccaccagatgccggCctcaaatgctttgggacagc	8	8	12	13	1	1	1	1	0	0	1	1	2	1	2	4	3	3	1	4	3	1	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:46787152C>A	ENST00000262738.3	-	16	6180	c.6181G>T	c.(6181-6183)Gcc>Tcc	p.A2061S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2061					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGATGCCGGCCTCAAATGCT	0.607											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	55					0.27861	0.279912	1	0	A	46787152	C	A	46787152	3	1	73	1	0	0	0	0	1	0	0	0	3250	739	26	4	2943	4	CELSR1	22	46787152	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	4330164	46787152	4517414	162	14043											
SBF1	6305	broad.mit.edu	37	chr22	50898432	50898432	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaaatgcggaagggctcaGacttggcccggctcaggctg	9	6	16	10	2	2	2	2	0	0	2	2	4	2	3	1	5	1	3	1	5	2	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:50898432G>C	ENST00000380817.2	-	26	3623	c.3440C>G	c.(3439-3441)tCt>tGt	p.S1147C	SBF1_ENST00000348911.6_Missense_Mutation_p.S1148C|SBF1_ENST00000390679.3_Missense_Mutation_p.S1147C	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1147	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGGGCTCAGACTTGGCCCG	0.662													15	105					0	0	0	0	C	50898432	G	C	50898432	3	2	73	1	0	0	0	0	1	0	0	0	13944	942	33	2	2305	2	SBF1	22	50898432	Missense_Mutation	SNP	G	TCGA-CN-4740-01A-01D-1434-08	4111280	50898432	406134	163	14044											
RPS6KA3	6197	broad.mit.edu	37	chrX	20190890	20190890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaactccatgtttgtagCtttatgtatacatctcttgc	9	17	6	9	0	1	0	0	0	1	0	3	0	2	0	1	0	5	5	1	0	5	7			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:20190890C>T	ENST00000379565.3	-	15	1534	c.1327G>A	c.(1327-1329)Gct>Act	p.A443T	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.A414T|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.A413T|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.A415T	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	443	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						ATGTTTGTAGCTTTATGTATA	0.333													11	33					0	0	0	0	T	20190890	C	T	20190890	3	4	73	1	0	0	0	0	1	0	0	0	13737	797	28	4	927	4	RPS6KA3	23	20190890	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08		20190890	135079670	164	14045											
CXorf21	80231	broad.mit.edu	37	chrX	30578442	30578442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggatgtcattccagtactCaagtccactgagataccctt	10	12	8	11	0	2	1	2	1	0	1	4	3	4	2	3	1	2	1	3	1	3	4			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:30578442C>G	ENST00000378962.3	-	3	353	c.31G>C	c.(31-33)Gag>Cag	p.E11Q		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	11										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TTCCAGTACTCAAGTCCACTG	0.418													13	95					0	0	0	0	G	30578442	C	G	30578442	3	3	73	1	0	0	0	0	1	0	0	0	4133	835	29	2	878	2	CXorf21	23	30578442	Missense_Mutation	SNP	C	TCGA-CN-4740-01A-01D-1434-08	10387552	30578442	124692118	165	14046											
RPGR	6103	broad.mit.edu	37	chrX	38156556	38156556	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggttcctctggctgcatGaggtcctgttcagataagac	7	12	11	11	0	2	3	1	1	1	2	4	3	4	3	3	3	1	4	3	3	1	3			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:38156556G>T	ENST00000378505.2	-	11	1571	c.1395C>A	c.(1393-1395)ctC>ctA	p.L465L	RPGR_ENST00000342811.3_Silent_p.L465L|RPGR_ENST00000339363.3_Silent_p.L465L|RPGR_ENST00000338898.3_Silent_p.L465L|RPGR_ENST00000318842.7_Silent_p.L465L|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Silent_p.L403L	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	465					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTGGCTGCATGAGGTCCTGTT	0.418													9	103					3.86212e-05	4.07037e-05	1	0	T	38156556	G	T	38156556	2	4	73	1	0	0	0	0	0	0	0	1	13633	1277	45	2		2	RPGR	23	38156556	Silent	SNP	G	TCGA-CN-4740-01A-01D-1434-08	7578114	38156556	117114004	166	14047											
TEX13A	56157	broad.mit.edu	37	chrX	104464803	104464803	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtttggcgaagccgtgCagccaccgcaccctgtgcct	6	8	12	15	3	0	0	0	0	0	0	0	1	0	0	5	1	5	4	5	1	1	1			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:104464803C>A	ENST00000372578.3	-	2	390	c.279G>T	c.(277-279)ctG>ctT	p.L93L	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Silent_p.L93L|TEX13A_ENST00000413579.1_Silent_p.L93L|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	93						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CGAAGCCGTGCAGCCACCGCA	0.632													9	41					0.000274275	0.000284875	1	0	A	104464803	C	A	104464803	2	1	73	1	0	0	0	0	0	0	0	1	15870	697	25	4		4	TEX13A	23	104464803	Silent	SNP	C	TCGA-CN-4740-01A-01D-1434-08	66308247	104464803	50805757	167	14048											
GUCY2F	2986	broad.mit.edu	37	chrX	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-																															ggaaggggcttcatgaagccTtttttcccaatcagccagaa																										TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418													7	537	---	---	---	---					-	108619355	T	-	108619355	7	5	73	1	0	1	0	1	0	0	0	0	6948	1606	56	0	142	0	GUCY2F	23	108619355	Frame_Shift_Del	DEL	T	TCGA-CN-4740-01A-01D-1434-08	4154552	108619355	46651205	168	14049											
ATP11C	286410	broad.mit.edu	37	chrX	138880468	138880468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttctgagatttcccttggTagttcaaagccattttggtt	7	18	9	7	0	2	1	1	1	1	1	3	2	3	1	2	2	1	4	2	2	2	8			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:138880468T>C	ENST00000370557.1	-	10	1848	c.821A>G	c.(820-822)tAc>tGc	p.Y274C	ATP11C_ENST00000327569.3_Missense_Mutation_p.Y277C|ATP11C_ENST00000370543.1_Missense_Mutation_p.Y277C|ATP11C_ENST00000361648.2_Missense_Mutation_p.Y277C|ATP11C_ENST00000359686.2_Missense_Mutation_p.Y277C			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	277					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTTCCCTTGGTAGTTCAAAGC	0.338													27	116					0	0	0	0	C	138880468	T	C	138880468	3	2	73	1	0	0	0	0	1	0	0	0	1125	1638	57	5	2715	5	ATP11C	23	138880468	Missense_Mutation	SNP	T	TCGA-CN-4740-01A-01D-1434-08	30261113	138880468	16390092	169	14050											
CDK11A	728642	broad.mit.edu	37	chr1	1635057	1635057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gattttctcactgggggtccCcagctcctgaaagacagagg	9	9	12	11	0	1	3	1	1	1	2	4	4	3	3	3	3	1	1	3	3	1	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:1635057C>T	ENST00000356200.3	-	17	2050	c.1816G>A	c.(1816-1818)Ggg>Agg	p.G606R	CDK11A_ENST00000357760.2_Missense_Mutation_p.G639R|CDK11A_ENST00000358779.5_Missense_Mutation_p.G630R|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000404249.3_Missense_Mutation_p.G640R|CDK11A_ENST00000378633.1_Missense_Mutation_p.G643R|CDK11A_ENST00000378638.2_Missense_Mutation_p.G606R					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CTGGGGGTCCCCAGCTCCTGA	0.572													3	7					0	0	0	0	T	1635057	C	T	1635057	3	4	74	1	0	0	0	0	1	0	0	0	3155	623	22	4	436	4	CDK11A	1	1635057	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08		1635057	247615564	1	14051											
FBLIM1	54751	broad.mit.edu	37	chr1	16096922	16096922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatctgtgccttctgccAcaagaccgtgtccccccgag	8	8	9	16	2	2	2	0	0	2	2	3	3	3	2	6	0	2	0	6	0	1	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:16096922A>G	ENST00000375766.3	+	6	1200	c.560A>G	c.(559-561)cAc>cGc	p.H187R	FBLIM1_ENST00000332305.5_Missense_Mutation_p.H90R|FBLIM1_ENST00000441801.2_Missense_Mutation_p.H187R|FBLIM1_ENST00000400773.1_Missense_Mutation_p.H90R|FBLIM1_ENST00000375771.1_Missense_Mutation_p.H187R	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	187	LIM zinc-binding 1.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.H187R(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCCTTCTGCCACAAGACCGTG	0.637													35	50					0	0	0	0	G	16096922	A	G	16096922	3	3	74	1	0	0	0	0	1	0	0	0	5742	159	6	5	574	5	FBLIM1	1	16096922	Missense_Mutation	SNP	A	TCGA-CN-4741-01A-01D-1434-08	14461865	16096922	233153699	2	14052											
FBLIM1	54751	broad.mit.edu	37	chr1	16097009	16097009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgccgcacctgccgccGccagctggctgggcagagct	5	5	14	17	4	0	1	0	0	0	1	0	1	0	1	5	2	4	5	5	2	0	0	rs138675454		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:16097009G>A	ENST00000375766.3	+	6	1287	c.647G>A	c.(646-648)cGc>cAc	p.R216H	FBLIM1_ENST00000332305.5_Missense_Mutation_p.R119H|FBLIM1_ENST00000441801.2_Missense_Mutation_p.R216H|FBLIM1_ENST00000400773.1_Missense_Mutation_p.R119H|FBLIM1_ENST00000375771.1_Missense_Mutation_p.R216H	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	216	LIM zinc-binding 1.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.R216H(2)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		ACCTGCCGCCGCCAGCTGGCT	0.647													22	51					0	0	0	0	A	16097009	G	A	16097009	3	1	74	1	0	0	0	0	1	0	0	0	5742	1087	38	1	661	1	FBLIM1	1	16097009	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	87	16097009	233153612	3	14053											
UBR4	23352	broad.mit.edu	37	chr1	19436918	19436918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcctccttggagataGaatccgtcagcagcagcatt	10	10	10	11	1	1	2	1	0	0	2	4	3	4	2	3	1	4	4	3	1	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:19436918G>T	ENST00000375267.2	-	80	11936	c.11933C>A	c.(11932-11934)tCt>tAt	p.S3978Y	UBR4_ENST00000375217.2_Missense_Mutation_p.S3971Y|UBR4_ENST00000375226.2_Missense_Mutation_p.S3954Y|UBR4_ENST00000375254.3_Missense_Mutation_p.S3978Y			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3978					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.S3978Y(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTTGGAGATAGAATCCGTCAG	0.537													28	60					1.06647e-15	1.23091e-15	1	0	T	19436918	G	T	19436918	3	4	74	1	0	0	0	0	1	0	0	0	17000	942	33	2	3726	2	UBR4	1	19436918	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	3339909	19436918	229813703	4	14054											
RAP1GAP	5909	broad.mit.edu	37	chr1	21924900	21924900	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcctggtacctggggaGctgcccccactagtggtgct	4	11	13	13	0	0	0	0	0	0	0	1	1	1	1	4	4	4	3	4	4	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:21924900G>C	ENST00000542643.2	-	24	2252	c.1950C>G	c.(1948-1950)agC>agG	p.S650R	RAP1GAP_ENST00000374763.2_Missense_Mutation_p.S709R|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.S655R|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.S624R|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.S688R	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	624					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TACCTGGGGAGCTGCCCCCAC	0.622													4	91					0	0	0	0	C	21924900	G	C	21924900	3	2	74	1	0	0	0	0	1	0	0	0	13119	962	34	4	131	4	RAP1GAP	1	21924900	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	2487982	21924900	227325721	5	14055											
TRIM63	84676	broad.mit.edu	37	chr1	26392775	26392775	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacctggagcactcctgttTgtagatgtcgatgatgttct	7	14	11	9	2	1	2	0	1	1	1	3	5	2	3	2	1	1	4	2	1	1	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:26392775T>G	ENST00000374272.3	-	2	454	c.316A>C	c.(316-318)Aaa>Caa	p.K106Q	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	106	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CACTCCTGTTTGTAGATGTCG	0.622													3	162					0	0	0	0	G	26392775	T	G	26392775	3	3	74	1	0	0	0	0	1	0	0	0	16633	1821	63	5	777	5	TRIM63	1	26392775	Missense_Mutation	SNP	T	TCGA-CN-4741-01A-01D-1434-08	4467875	26392775	222857846	6	14056											
PLK3	1263	broad.mit.edu	37	chr1	45271192	45271192	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccacaccaagctgattCtcagtggctgggagcccctc	8	7	12	14	0	1	1	1	1	1	0	3	3	1	3	4	3	2	2	4	3	1	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:45271192C>A	ENST00000372201.4	+	15	2022	c.1783C>A	c.(1783-1785)Ctc>Atc	p.L595I	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	595	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.L556I(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CAAGCTGATTCTCAGTGGCTG	0.597													173	217					1.49245e-95	1.81871e-95	1	0	A	45271192	C	A	45271192	3	1	74	1	0	0	0	0	1	0	0	0	12169	913	32	2	1841	2	PLK3	1	45271192	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	18878417	45271192	203979429	7	14057											
UROD	7389	broad.mit.edu	37	chr1	45481099	45481099	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgggctttatcctgacAtggacccagaacatgtgggc	9	9	12	11	0	0	2	0	1	0	1	1	3	1	3	3	3	1	1	3	3	2	2	rs142869188		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:45481099A>G	ENST00000246337.4	+	10	1152	c.1033A>G	c.(1033-1035)Atg>Gtg	p.M345V	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	345						cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity	p.M345V(1)		endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTATCCTGACATGGACCCAGA	0.527									Porphyria Cutanea Tarda, Type II				43	54					0	0	0	0	G	45481099	A	G	45481099	3	3	74	1	0	0	0	0	1	0	0	0	17125	217	8	5	1071	5	UROD	1	45481099	Missense_Mutation	SNP	A	TCGA-CN-4741-01A-01D-1434-08	209907	45481099	203769522	8	14058											
MAST2	23139	broad.mit.edu	37	chr1	46471917	46471917	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgttttcccctctagtcatCatgctcctcacaggaaaagc	10	12	6	13	0	4	0	3	0	1	0	6	1	6	1	3	1	2	2	3	1	3	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:46471917C>G	ENST00000361297.2	+	8	1035	c.752C>G	c.(751-753)tCa>tGa	p.S251*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.S251*|MAST2_ENST00000372008.1_Nonsense_Mutation_p.S136*	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	251					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTCTAGTCATCATGCTCCTCA	0.478													7	282					0	0	0	0	G	46471917	C	G	46471917	4	3	74	1	0	0	0	0	0	1	0	0	9394	838	29	2	782	2	MAST2	1	46471917	Nonsense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	990818	46471917	202778704	9	14059											
DOCK7	85440	broad.mit.edu	37	chr1	62954604	62954604	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctagaaattggaatcattaCctgatgaacaattttgctga	14	13	8	6	0	1	4	1	3	0	1	1	5	1	5	1	1	3	2	1	1	6	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:62954604C>A	ENST00000251157.5	-	42	5500		c.e42+1		DOCK7_ENST00000340370.5_Splice_Site	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7						activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGAATCATTACCTGATGAACA	0.353													18	67					1.15919e-05	1.27074e-05	1	0	A	62954604	C	A	62954604	5	1	74	1	0	0	0	0	0	0	1	0	4728	521	18	4	964	4	DOCK7	1	62954604	Splice_Site	SNP	C	TCGA-CN-4741-01A-01D-1434-08	16482687	62954604	186296017	10	14060											
LRRIQ3	127255	broad.mit.edu	37	chr1	74492542	74492542	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaagtctaaatttgttttCacaattgctacttttgtttt	10	22	4	5	0	2	0	1	0	1	0	2	0	2	0	0	0	2	3	0	0	6	11			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:74492542C>T	ENST00000354431.4	-	8	2021	c.1830G>A	c.(1828-1830)gtG>gtA	p.V610V	LRRIQ3_ENST00000395089.1_Silent_p.V610V	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	610								p.V610V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AATTTGTTTTCACAATTGCTA	0.284													26	38					0	0	0	0	T	74492542	C	T	74492542	2	4	74	1	0	0	0	0	0	0	0	1	9094	813	29	2		2	LRRIQ3	1	74492542	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	11537938	74492542	174758079	11	14061											
OLFM3	118427	broad.mit.edu	37	chr1	102312598	102312598	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctggcagcgggaggcGtgactgcagcgcgccacatc	6	4	17	14	5	0	1	0	1	0	0	1	2	0	2	2	4	3	3	2	4	0	0			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:102312598G>A	ENST00000359814.3	-	0	2				OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000370103.4_Intron			Q96PB7	NOE3_HUMAN	olfactomedin 3							extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGCGGGAGGCGTGACTGCAGC	0.557													12	28					0	0	0	0	A	102312598	G	A	102312598	1	1	74	1	0	0	0	0	0	0	0	0	10925	1160	40	1		1	OLFM3	1	102312598	Translation_Start_Site	SNP	G	TCGA-CN-4741-01A-01D-1434-08	27820056	102312598	146938023	12	14062											
CELSR2	1952	broad.mit.edu	37	chr1	109794495	109794495	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctcggccagtgtcagcgtGactgtcctggatgtcaacga	7	9	13	12	3	2	1	2	1	0	0	4	3	3	2	3	2	2	0	3	2	1	0			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:109794495G>C	ENST00000271332.3	+	1	1855	c.1794G>C	c.(1792-1794)gtG>gtC	p.V598V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	598	Cadherin 4.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTGTCAGCGTGACTGTCCTGG	0.562													4	77					0	0	0	0	C	109794495	G	C	109794495	2	2	74	1	0	0	0	0	0	0	0	1	3251	1277	45	2		2	CELSR2	1	109794495	Silent	SNP	G	TCGA-CN-4741-01A-01D-1434-08	7481897	109794495	139456126	13	14063											
C1orf162	128346	broad.mit.edu	37	chr1	112020686	112020686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagagcaatcacttggctGagaaccattctgcagacttt	14	10	8	9	0	2	3	1	1	1	3	2	4	2	3	1	1	3	3	1	1	4	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:112020686G>A	ENST00000343534.5	+	6	659	c.409G>A	c.(409-411)Gag>Aag	p.E137K	C1orf162_ENST00000464591.1_3'UTR|C1orf162_ENST00000369718.3_Missense_Mutation_p.E112K	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	137						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		TCACTTGGCTGAGAACCATTC	0.428													6	151					0	0	0	0	A	112020686	G	A	112020686	3	1	74	1	0	0	0	0	1	0	0	0	2029	1291	45	2	427	2	C1orf162	1	112020686	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	2226191	112020686	137229935	14	14064											
TSPAN2	10100	broad.mit.edu	37	chr1	115604779	115604779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccaagcacacattgcgactCccgcatggctccgcagcacc	9	6	8	18	3	0	0	0	0	0	0	3	1	3	0	4	1	3	5	4	1	1	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:115604779C>T	ENST00000369516.2	-	3	278	c.247G>A	c.(247-249)Gag>Aag	p.E83K	TSPAN2_ENST00000369515.2_Missense_Mutation_p.E83K|TSPAN2_ENST00000369514.2_Missense_Mutation_p.E83K	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	83						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CATTGCGACTCCCGCATGGCT	0.632													6	15					0	0	0	0	T	115604779	C	T	115604779	3	4	74	1	0	0	0	0	1	0	0	0	16739	864	30	2	442	2	TSPAN2	1	115604779	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	3584093	115604779	133645842	15	14065											
PTPRC	5788	broad.mit.edu	37	chr1	198701643	198701643	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgaactctctgagataaaCggagatgcagggtcaaacta	14	9	11	7	1	2	3	1	2	1	2	3	5	2	3	0	2	4	2	0	2	5	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:198701643C>T	ENST00000367376.2	+	20	2265	c.2094C>T	c.(2092-2094)aaC>aaT	p.N698N	PTPRC_ENST00000348564.6_Silent_p.N539N|PTPRC_ENST00000442510.2_Silent_p.N700N|PTPRC_ENST00000352140.3_Silent_p.N650N|PTPRC_ENST00000594404.1_Silent_p.N537N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	698	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.N698N(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTGAGATAAACGGAGATGCAG	0.318													16	27					0	0	0	0	T	198701643	C	T	198701643	2	4	74	1	0	0	0	0	0	0	0	1	12879	535	19	1		1	PTPRC	1	198701643	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	83096864	198701643	50548978	16	14066											
IGFN1	91156	broad.mit.edu	37	chr1	201195014	201195014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctgggacggtgacggccGagtgggaaccctctcctgac	6	7	15	13	3	1	2	0	2	1	0	2	5	1	4	4	4	2	0	4	4	1	0	rs79942057	byFrequency	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:201195014G>A	ENST00000335211.4	+	22	10679	c.10549G>A	c.(10549-10551)Gag>Aag	p.E3517K	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.E677K(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTGACGGCCGAGTGGGAACC	0.692													21	32					0	0	0	0	A	201195014	G	A	201195014	3	1	74	1	0	0	0	0	1	0	0	0	7643	1059	37	1	10631	1	IGFN1	1	201195014	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	2493371	201195014	48055607	17	14067											
TTC13	79573	broad.mit.edu	37	chr1	231064751	231064751	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcaaatttttagcccaGtggtccttaaagcttccagg	12	11	9	9	0	0	0	0	0	0	0	2	0	2	0	3	3	2	2	3	3	5	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:231064751G>A	ENST00000366661.4	-	12	1396	c.1389C>T	c.(1387-1389)caC>caT	p.H463H	TTC13_ENST00000414259.1_Silent_p.H410H|TTC13_ENST00000366662.4_Silent_p.H410H	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	463							binding	p.H463H(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTTTAGCCCAGTGGTCCTTAA	0.413													72	106					0	0	0	0	A	231064751	G	A	231064751	2	1	74	1	0	0	0	0	0	0	0	1	16776	1020	36	4		4	TTC13	1	231064751	Silent	SNP	G	TCGA-CN-4741-01A-01D-1434-08	29869737	231064751	18185870	18	14068											
SLC3A1	6519	broad.mit.edu	37	chr2	44547602	44547602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttaagtaccaattctgccGacaaaggcagtaaagttgat	14	10	10	7	1	1	1	0	1	1	0	1	2	1	1	2	2	2	5	2	2	6	5	rs146303355		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:44547602G>A	ENST00000260649.6	+	10	1958	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|SLC3A1_ENST00000409740.3_Missense_Mutation_p.D259N|SLC3A1_ENST00000409380.1_Missense_Mutation_p.D350N|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	628					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CAATTCTGCCGACAAAGGCAG	0.413													4	131					0	0	0	0	A	44547602	G	A	44547602	3	1	74	1	0	0	0	0	1	0	0	0	14714	1058	37	1	1920	1	SLC3A1	2	44547602	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08		44547602	198651771	19	14069											
EPAS1	2034	broad.mit.edu	37	chr2	46583923	46583923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgcgaccatgaggagattCgtgagaacctgagtctcaaa	12	8	11	10	2	1	4	1	3	1	2	3	7	1	4	3	1	2	0	3	1	2	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:46583923C>T	ENST00000263734.3	+	4	940	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	144	PAS 1.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R144C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGAGGAGATTCGTGAGAACCT	0.448													46	63					0	0	0	0	T	46583923	C	T	46583923	3	4	74	1	0	0	0	0	1	0	0	0	5188	884	31	1	444	1	EPAS1	2	46583923	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	2036321	46583923	196615450	20	14070											
USP34	9736	broad.mit.edu	37	chr2	61597495	61597495	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtcaatatgttgagtactCagtcgcccttctgctgccaa	9	12	8	12	1	3	1	2	1	1	0	4	1	3	1	2	0	3	3	2	0	4	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:61597495C>T	ENST00000398571.2	-	10	1288	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	404					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTTGAGTACTCAGTCGCCCTT	0.338													6	198					0	0	0	0	T	61597495	C	T	61597495	2	4	74	1	0	0	0	0	0	0	0	1	17161	813	29	2		2	USP34	2	61597495	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	15013572	61597495	181601878	21	14071											
ACTG2	72	broad.mit.edu	37	chr2	74129548	74129548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaggctcagagcaagcGagggatcctaactctcaaat	13	7	12	9	1	2	2	2	1	1	1	4	5	3	4	1	3	3	2	1	3	3	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:74129548G>T	ENST00000409624.1	+	4	831	c.188G>T	c.(187-189)cGa>cTa	p.R63L	ACTG2_ENST00000409731.3_Intron|ACTG2_ENST00000345517.3_Missense_Mutation_p.R63L|ACTG2_ENST00000409918.1_Missense_Mutation_p.R63L			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	63					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						CAGAGCAAGCGAGGGATCCTA	0.483													30	46					2.4375e-19	2.86379e-19	1	0	T	74129548	G	T	74129548	3	4	74	1	0	0	0	0	1	0	0	0	197	1058	37	3	194	3	ACTG2	2	74129548	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	12532053	74129548	169069825	22	14072											
TUBA3D	113457	broad.mit.edu	37	chr2	132235898	132235898	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaacacgttcttcagtgaGactggagctggcaagcacgt	10	10	11	10	2	3	1	2	1	1	1	3	3	3	2	0	2	3	4	0	2	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:132235898G>C	ENST00000321253.6	+	2	272	c.165G>C	c.(163-165)gaG>gaC	p.E55D		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	55					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.E55D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TCTTCAGTGAGACTGGAGCTG	0.557													18	58					0	0	0	0	C	132235898	G	C	132235898	3	2	74	1	0	0	0	0	1	0	0	0	16843	933	33	2	171	2	TUBA3D	2	132235898	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	58106350	132235898	110963475	23	14073											
DNAH7	56171	broad.mit.edu	37	chr2	196673458	196673458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaagcgcataaactctctaCgaatggttttgaaggcaggc	12	11	10	8	2	1	1	0	1	1	0	2	2	1	1	0	3	3	3	0	3	6	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:196673458C>T	ENST00000312428.6	-	53	10131	c.10031G>A	c.(10030-10032)cGt>cAt	p.R3344H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3344					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAACTCTCTACGAATGGTTTT	0.373													4	163					0	0	0	0	T	196673458	C	T	196673458	3	4	74	1	0	0	0	0	1	0	0	0	4642	536	19	1	2095	1	DNAH7	2	196673458	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	64437560	196673458	46525915	24	14074											
TUBA4A	7277	broad.mit.edu	37	chr2	220116386	220116386	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatcctctttcccagtgatGagctgctctgggtggaagag	7	11	13	10	0	2	3	0	2	2	1	4	4	4	4	2	2	2	3	2	2	1	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:220116386G>A	ENST00000392088.2	-	3	786	c.231C>T	c.(229-231)ctC>ctT	p.L77L	TUBA4A_ENST00000248437.4_Silent_p.L92L|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	92					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCAGTGATGAGCTGCTCTG	0.547													12	68					0	0	0	0	A	220116386	G	A	220116386	2	1	74	1	0	0	0	0	0	0	0	1	16845	1277	45	2		2	TUBA4A	2	220116386	Silent	SNP	G	TCGA-CN-4741-01A-01D-1434-08	23442928	220116386	23082987	25	14075											
SPEG	10290	broad.mit.edu	37	chr2	220338272	220338272	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgctggacaaaccagacatCgtgtatgtggtggagggaca	12	8	14	7	1	0	1	0	0	0	1	1	4	0	4	1	4	2	2	1	4	2	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:220338272C>T	ENST00000312358.7	+	17	4326	c.4194C>T	c.(4192-4194)atC>atT	p.I1398I	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1398	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.I1398I(1)|p.I1398M(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AACCAGACATCGTGTATGTGG	0.627													21	202					0	0	0	0	T	220338272	C	T	220338272	2	4	74	1	0	0	0	0	0	0	0	1	15126	874	31	1		1	SPEG	2	220338272	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	221886	220338272	22861101	26	14076											
SLC4A3	6508	broad.mit.edu	37	chr2	220501431	220501431	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccaggacctggagtacctCactggccgggtgtgggttgg	5	8	17	11	1	1	0	1	0	0	0	1	2	1	2	4	6	1	2	4	6	1	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:220501431C>G	ENST00000358055.3	+	16	2882	c.2370C>G	c.(2368-2370)ctC>ctG	p.L790L	SLC4A3_ENST00000273063.6_Silent_p.L817L|SLC4A3_ENST00000317151.3_Silent_p.L790L|SLC4A3_ENST00000373762.3_Silent_p.L817L|SLC4A3_ENST00000373760.2_Silent_p.L790L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	790	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAGTACCTCACTGGCCGGG	0.642													4	144					0	0	0	0	G	220501431	C	G	220501431	2	3	74	1	0	0	0	0	0	0	0	1	14743	813	29	2		2	SLC4A3	2	220501431	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	163159	220501431	22697942	27	14077											
FARSB	10056	broad.mit.edu	37	chr2	223499180	223499180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggcttgaatttgatatctGaaggacgctttgcagtataa	12	13	11	5	1	1	3	0	3	1	0	1	5	1	4	0	2	1	4	0	2	5	6			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:223499180G>A	ENST00000281828.6	-	6	799	c.536C>T	c.(535-537)tCa>tTa	p.S179L	FARSB_ENST00000536361.1_Missense_Mutation_p.S80L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	179					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTTGATATCTGAAGGACGCTT	0.398													4	84					0	0	0	0	A	223499180	G	A	223499180	3	1	74	1	0	0	0	0	1	0	0	0	5725	1294	45	2	1281	2	FARSB	2	223499180	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	2997749	223499180	19700193	28	14078											
SACM1L	22908	broad.mit.edu	37	chr3	45744942	45744942	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttaggcatatcacaccTgaaaaattttatgtggaagc	13	13	7	8	0	2	1	1	1	1	0	2	2	2	2	1	2	1	1	1	2	6	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:45744942T>C	ENST00000389061.5	+	2	249	c.45T>C	c.(43-45)ccT>ccC	p.P15P	SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000541314.1_5'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	15						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		ATATCACACCTGAAAAATTTT	0.348													3	125					0	0	0	0	C	45744942	T	C	45744942	2	2	74	1	0	0	0	0	0	0	0	1	13888	1567	55	5		5	SACM1L	3	45744942	Silent	SNP	T	TCGA-CN-4741-01A-01D-1434-08		45744942	152277488	29	14079											
CCR2	729230	broad.mit.edu	37	chr3	46399948	46399948	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctatgccttcgttggggaGaagttcagaaggtatctctc	9	13	11	8	1	3	2	1	0	2	2	6	3	3	2	1	3	1	3	1	3	4	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:46399948G>A	ENST00000292301.4	+	2	1415	c.930G>A	c.(928-930)gaG>gaA	p.E310E	CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_Silent_p.E310E|CCR2_ENST00000400888.2_Silent_p.E310E	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	310					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TCGTTGGGGAGAAGTTCAGAA	0.502													15	149					0	0	0	0	A	46399948	G	A	46399948	2	1	74	1	0	0	0	0	0	0	0	1	2970	933	33	2		2	CCR2	3	46399948	Silent	SNP	G	TCGA-CN-4741-01A-01D-1434-08	655006	46399948	151622482	30	14080											
DNAH1	25981	broad.mit.edu	37	chr3	52404531	52404531	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgaaaagctgagtcgcatCgtagagttgatcgagccctg	10	10	12	9	3	1	4	0	3	1	1	4	5	1	4	1	0	2	4	1	0	3	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:52404531C>T	ENST00000420323.2	+	40	6558	c.6297C>T	c.(6295-6297)atC>atT	p.I2099I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2099					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2099I(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAGTCGCATCGTAGAGTTGA	0.557													12	27					0	0	0	0	T	52404531	C	T	52404531	2	4	74	1	0	0	0	0	0	0	0	1	4634	874	31	1		1	DNAH1	3	52404531	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	6004583	52404531	145617899	31	14081											
DHFRL1	200895	broad.mit.edu	37	chr3	93780144	93780144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgagaactaaattaattCtatcctttaaaggtcgattc	13	15	6	7	1	1	1	0	1	1	1	4	3	2	1	1	1	2	1	1	1	7	7			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:93780144C>T	ENST00000394221.2	-	2	661	c.212G>A	c.(211-213)aGa>aAa	p.R71K	DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Missense_Mutation_p.R71K	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	71	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						TAAATTAATTCTATCCTTTAA	0.413													7	613					0	0	0	0	T	93780144	C	T	93780144	3	4	74	1	0	0	0	0	1	0	0	0	4519	913	32	2	355	2	DHFRL1	3	93780144	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	41375613	93780144	104242286	32	14082											
TOMM70A	9868	broad.mit.edu	37	chr3	100084508	100084508	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggccatctccatttccgatTtggccaggttaatagctttg	7	14	10	10	1	1	0	0	0	1	0	3	1	2	0	4	3	1	2	4	3	2	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:100084508T>G	ENST00000284320.5	-	12	2175	c.1727A>C	c.(1726-1728)aAa>aCa	p.K576T		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	576					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	p.K576T(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CATTTCCGATTTGGCCAGGTT	0.398													5	455					0	0	0	0	G	100084508	T	G	100084508	3	3	74	1	0	0	0	0	1	0	0	0	16457	1841	64	5	103	5	TOMM70A	3	100084508	Missense_Mutation	SNP	T	TCGA-CN-4741-01A-01D-1434-08	6304364	100084508	97937922	33	14083											
TMPRSS7	344805	broad.mit.edu	37	chr3	111769615	111769615	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcctccaaaatgcaagtgTacctggaaatttcaggtagc	13	11	8	9	0	1	0	1	0	0	0	3	1	3	1	3	2	3	3	3	2	7	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:111769615T>C	ENST00000452346.2	+	9	1191	c.1188T>C	c.(1186-1188)tgT>tgC	p.C396C	TMPRSS7_ENST00000419127.1_Silent_p.C270C			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	396	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	p.C125C(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AATGCAAGTGTACCTGGAAAT	0.353													111	560					0	0	0	0	C	111769615	T	C	111769615	2	2	74	1	0	0	0	0	0	0	0	1	16346	1644	57	5		5	TMPRSS7	3	111769615	Silent	SNP	T	TCGA-CN-4741-01A-01D-1434-08	11685107	111769615	86252815	34	14084											
BTLA	151888	broad.mit.edu	37	chr3	112198449	112198449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccttccaacttgtttGtctatcttcaagttttacac	7	19	3	12	0	4	0	1	0	3	0	6	0	6	0	2	0	2	2	2	0	4	8			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:112198449G>T	ENST00000334529.5	-	2	458	c.256C>A	c.(256-258)Caa>Aaa	p.Q86K	BTLA_ENST00000383680.4_Missense_Mutation_p.Q86K	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	86	Ig-like V-type.				T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CAACTTGTTTGTCTATCTTCA	0.393													7	456					0.0477658	0.0504622	1	0	T	112198449	G	T	112198449	3	4	74	1	0	0	0	0	1	0	0	0	1567	1386	48	4	629	4	BTLA	3	112198449	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	428834	112198449	85823981	35	14085											
EPHB1	2047	broad.mit.edu	37	chr3	134644682	134644682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaatggacaccagaacggCtactgcagagctgggctgga	11	7	14	9	1	0	2	0	0	0	2	0	4	0	4	1	4	4	5	1	4	3	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:134644682C>A	ENST00000398015.3	+	2	453	c.83C>A	c.(82-84)gCt>gAt	p.A28D	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	28						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACCAGAACGGCTACTGCAGAG	0.458													3	29					6.4e-05	6.95768e-05	1	0	A	134644682	C	A	134644682	3	1	74	1	0	0	0	0	1	0	0	0	5212	797	28	4	89	4	EPHB1	3	134644682	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	22446233	134644682	63377748	36	14086											
CLSTN2	64084	broad.mit.edu	37	chr3	140178491	140178491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggtgccaaagtccccGatgggattgtgcccaagaac	10	6	14	11	1	0	1	0	0	0	1	1	3	1	2	4	3	3	1	4	3	3	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:140178491G>T	ENST00000458420.3	+	7	1292	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	368					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.D368Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAAAGTCCCCGATGGGATTGT	0.577										HNSCC(16;0.037)			28	150					4.59853e-10	5.28427e-10	1	0	T	140178491	G	T	140178491	3	4	74	1	0	0	0	0	1	0	0	0	3592	1058	37	3	1128	3	CLSTN2	3	140178491	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	5533809	140178491	57843939	37	14087											
RSRC1	51319	broad.mit.edu	37	chr3	157921018	157921018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggaaggacaaggaattaCataacatcaaacgtgggtaa	19	6	11	5	1	1	0	1	0	0	0	1	3	1	3	0	4	3	1	0	4	8	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:157921018C>T	ENST00000295930.3	+	4	640	c.478C>T	c.(478-480)Cat>Tat	p.H160Y	RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Missense_Mutation_p.H160Y|RSRC1_ENST00000475278.2_Missense_Mutation_p.H160Y|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	160					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	p.H160Y(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			caaggaATTACATAACATCAA	0.413													33	10					0	0	0	0	T	157921018	C	T	157921018	3	4	74	1	0	0	0	0	1	0	0	0	13799	478	17	4	488	4	RSRC1	3	157921018	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	17742527	157921018	40101412	38	14088											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			30	218					0	0	0	0	A	178936091	G	A	178936091	3	1	74	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	21015073	178936091	19086339	39	14089											
YEATS2	55689	broad.mit.edu	37	chr3	183471980	183471980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgccatcttcattggaaaGaacacccaccaaaatgacta	15	10	5	11	0	2	2	1	1	1	1	2	3	2	3	3	1	2	0	3	1	5	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:183471980G>C	ENST00000305135.5	+	11	1412	c.1217G>C	c.(1216-1218)aGa>aCa	p.R406T		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	406					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCATTGGAAAGAACACCCACC	0.443													12	788					0	0	0	0	C	183471980	G	C	183471980	3	2	74	1	0	0	0	0	1	0	0	0	17568	942	33	2	1255	2	YEATS2	3	183471980	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	4535889	183471980	14550450	40	14090											
ECE2	9718	broad.mit.edu	37	chr3	184008348	184008348	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactcttcctccgccaggtgGagcatgaccccccagacagt	8	7	9	17	1	1	2	0	1	1	1	3	3	3	3	6	2	1	1	6	2	0	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:184008348G>A	ENST00000402825.3	+	15	2013	c.2013G>A	c.(2011-2013)tgG>tgA	p.W671*	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Nonsense_Mutation_p.W553*|ECE2_ENST00000359140.4_Nonsense_Mutation_p.W524*|ECE2_ENST00000357474.5_Nonsense_Mutation_p.W599*	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	671	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGCCAGGTGGAGCATGACCC	0.622													14	522					0	0	0	0	A	184008348	G	A	184008348	4	1	74	1	0	0	0	0	0	1	0	0	4926	1183	41	2	2635	2	ECE2	3	184008348	Nonsense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	536368	184008348	14014082	41	14091											
BCL6	604	broad.mit.edu	37	chr3	187447102	187447102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggggtcagtggggctcttgGctggaggggagccagaagcc	6	7	20	8	0	2	1	1	0	1	1	2	3	2	3	2	8	2	2	2	8	1	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:187447102G>A	ENST00000406870.2	-	5	1457	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V	BCL6_ENST00000450123.2_Missense_Mutation_p.A364V|BCL6_ENST00000232014.4_Missense_Mutation_p.A364V|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	364					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGGGCTCTTGGCTGGAGGGGA	0.577			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								31	1288					0	0	0	0	A	187447102	G	A	187447102	3	1	74	1	0	0	0	0	1	0	0	0	1380	1203	42	4	1053	4	BCL6	3	187447102	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	3438754	187447102	10575328	42	14092											
TPRG1	285386	broad.mit.edu	37	chr3	189028237	189028237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagtctcttctgtcccGctggaacccatggtccactg	6	10	11	14	1	2	0	0	0	2	0	5	2	4	2	3	3	2	2	3	3	1	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:189028237G>A	ENST00000345063.3	+	5	709	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TPRG1_ENST00000433971.1_Missense_Mutation_p.R181H	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	181										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CTTCTGTCCCGCTGGAACCCA	0.473													5	416					0	0	0	0	A	189028237	G	A	189028237	3	1	74	1	0	0	0	0	1	0	0	0	16513	1087	38	1	556	1	TPRG1	3	189028237	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	1581135	189028237	8994193	43	14093											
MUC4	4585	broad.mit.edu	37	chr3	195486032	195486032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcagctgtctctgagcgtGaagttggcatcctcagcatt	7	12	12	10	1	2	2	1	2	1	0	4	2	3	2	1	1	4	5	1	1	1	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:195486032G>A	ENST00000463781.3	-	17	15408	c.14949C>T	c.(14947-14949)ttC>ttT	p.F4983F	MUC4_ENST00000475231.1_Silent_p.F4931F|MUC4_ENST00000346145.4_Silent_p.F747F|MUC4_ENST00000349607.4_Silent_p.F696F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1740					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTCTGAGCGTGAAGTTGGCAT	0.552													13	1568					0	0	0	0	A	195486032	G	A	195486032	2	1	74	1	0	0	0	0	0	0	0	1	10048	1281	45	2		2	MUC4	3	195486032	Silent	SNP	G	TCGA-CN-4741-01A-01D-1434-08	6457795	195486032	2536398	44	14094											
MUC4	4585	broad.mit.edu	37	chr3	195517519	195517519	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcctgagtagaagtccttGagaaagttgctggtgattgt	9	14	13	5	0	0	4	0	3	0	2	2	5	2	4	2	1	1	3	2	1	3	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:195517519G>C	ENST00000463781.3	-	2	1391	c.932C>G	c.(931-933)tCa>tGa	p.S311*	MUC4_ENST00000475231.1_Nonsense_Mutation_p.S311*|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	316					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAAGTCCTTGAGAAAGTTGC	0.473													6	606					0	0	0	0	C	195517519	G	C	195517519	4	2	74	1	0	0	0	0	0	1	0	0	10048	1294	45	2		2	MUC4	3	195517519	Nonsense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	31487	195517519	2504911	45	14095											
LRCH3	84859	broad.mit.edu	37	chr3	197585712	197585712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgaaatgtagtcgctgtCagggttgaatcaagtgggct	10	13	13	5	1	2	2	2	2	0	0	3	2	2	2	0	2	0	4	0	2	4	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:197585712C>T	ENST00000438796.2	+	15	1696	c.1652C>T	c.(1651-1653)tCa>tTa	p.S551L	LRCH3_ENST00000425562.2_Missense_Mutation_p.S551L|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000334859.4_Missense_Mutation_p.S551L|LRCH3_ENST00000536618.1_Missense_Mutation_p.S146L|LRCH3_ENST00000441090.2_Missense_Mutation_p.S397L			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	551						extracellular region		p.S551L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TAGTCGCTGTCAGGGTTGAAT	0.438													86	415					0	0	0	0	T	197585712	C	T	197585712	3	4	74	1	0	0	0	0	1	0	0	0	8998	838	29	2	1710	2	LRCH3	3	197585712	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	2068193	197585712	436718	46	14096											
APBB2	323	broad.mit.edu	37	chr4	40936491	40936491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttggcttctgggtcactGttgatactacaagaatcatc	10	13	8	10	0	3	2	2	1	1	1	4	2	3	2	1	2	2	2	1	2	4	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:40936491G>A	ENST00000295974.8	-	10	1862	c.1233C>T	c.(1231-1233)aaC>aaT	p.N411N	APBB2_ENST00000513140.1_Silent_p.N390N|APBB2_ENST00000506352.1_Silent_p.N390N|APBB2_ENST00000508593.1_Silent_p.N412N	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	411					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|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						CTGGGTCACTGTTGATACTAC	0.383													16	88					0	0	0	0	A	40936491	G	A	40936491	2	1	74	1	0	0	0	0	0	0	0	1	762	1368	48	4		4	APBB2	4	40936491	Silent	SNP	G	TCGA-CN-4741-01A-01D-1434-08		40936491	150217785	47	14097											
TXK	7294	broad.mit.edu	37	chr4	48096216	48096216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgttttatggcagcctccGtacttctacaatcaagaaaa	14	12	6	9	1	2	1	1	0	1	1	3	1	3	1	2	1	3	3	2	1	8	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:48096216G>A	ENST00000264316.4	-	8	672	c.587C>T	c.(586-588)aCg>aTg	p.T196M	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	196	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GGCAGCCTCCGTACTTCTACA	0.373													8	58					0	0	0	0	A	48096216	G	A	48096216	3	1	74	1	0	0	0	0	1	0	0	0	16882	1145	40	1	1028	1	TXK	4	48096216	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	7159725	48096216	143058060	48	14098											
PDHA2	5161	broad.mit.edu	37	chr4	96762282	96762282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatggtaaacagcaagctCgccactgtggaagaattaaa	17	7	10	7	1	0	2	0	0	0	2	1	3	0	3	1	2	3	3	1	2	8	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:96762282C>T	ENST00000295266.4	+	1	1044	c.981C>T	c.(979-981)ctC>ctT	p.L327L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	327					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.L327L(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACAGCAAGCTCGCCACTGTGG	0.428													40	53					0	0	0	0	T	96762282	C	T	96762282	2	4	74	1	0	0	0	0	0	0	0	1	11736	871	31	1		1	PDHA2	4	96762282	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	48666066	96762282	94391994	49	14099											
FAT4	79633	broad.mit.edu	37	chr4	126371107	126371107	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatagtggacagtaatgacaAtgcacctcaatttcttaaaa	16	12	6	7	0	2	1	1	1	1	0	2	2	2	2	1	1	1	2	1	1	7	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:126371107A>T	ENST00000394329.3	+	9	8949	c.8936A>T	c.(8935-8937)aAt>aTt	p.N2979I	FAT4_ENST00000335110.5_Missense_Mutation_p.N1277I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2979	Cadherin 28.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N2979I(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTAATGACAATGCACCTCAA	0.343													37	65					0	0	0	0	T	126371107	A	T	126371107	3	4	74	1	0	0	0	0	1	0	0	0	5737	101	4	5	8970	5	FAT4	4	126371107	Missense_Mutation	SNP	A	TCGA-CN-4741-01A-01D-1434-08	29608825	126371107	64783169	50	14100											
MAP9	79884	broad.mit.edu	37	chr4	156274418	156274418	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctttttggcagctattttCtttgcttccttttctttcat	3	24	4	10	0	4	0	1	0	3	0	5	0	5	0	1	1	2	3	1	1	1	10			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:156274418C>G	ENST00000311277.4	-	11	1718	c.1455G>C	c.(1453-1455)aaG>aaC	p.K485N	MAP9_ENST00000515654.1_Missense_Mutation_p.K461N|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000593387.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	485					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAGCTATTTTCTTTGCTTCCT	0.353													8	119					0	0	0	0	G	156274418	C	G	156274418	3	3	74	1	0	0	0	0	1	0	0	0	9339	912	32	2	504	2	MAP9	4	156274418	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	29903311	156274418	34879858	51	14101											
MAP9	79884	broad.mit.edu	37	chr4	156289952	156289952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatcatctgtgtcaaggCtgttgttttctgctgaaaaa	10	15	10	6	0	4	2	2	2	2	0	4	2	4	2	0	1	1	4	0	1	3	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:156289952C>A	ENST00000311277.4	-	5	757	c.494G>T	c.(493-495)aGc>aTc	p.S165I	MAP9_ENST00000379248.2_Missense_Mutation_p.S92I|AC097467.2_ENST00000597831.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S165I|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	165					cell division|mitosis	cytoplasm|microtubule|spindle		p.S165I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TGTGTCAAGGCTGTTGTTTTC	0.388													38	69					6.21074e-16	7.20006e-16	1	0	A	156289952	C	A	156289952	3	1	74	1	0	0	0	0	1	0	0	0	9339	797	28	4	1489	4	MAP9	4	156289952	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	15534	156289952	34864324	52	14102											
PDGFC	56034	broad.mit.edu	37	chr4	157771474	157771474	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actaatctccataccaagacCgtatttcttggataagtatg	13	13	6	9	1	2	1	0	0	2	1	3	2	2	2	3	1	1	2	3	1	6	7			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:157771474C>G	ENST00000502773.1	-	2	703	c.213G>C	c.(211-213)acG>acC	p.T71T	PDGFC_ENST00000422544.2_Silent_p.T71T|PDGFC_ENST00000541126.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	71	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	p.T71T(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ATACCAAGACCGTATTTCTTG	0.388													41	67					0	0	0	0	G	157771474	C	G	157771474	2	3	74	1	0	0	0	0	0	0	0	1	11730	639	23	3		3	PDGFC	4	157771474	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	1481522	157771474	33382802	53	14103											
SDHA	6389	broad.mit.edu	37	chr5	233625	233625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggttgtctcattacggaagGatgtcgtggagagggaggca	9	10	17	5	2	1	1	1	0	1	1	3	5	1	4	0	6	1	2	0	6	2	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:233625G>A	ENST00000264932.6	+	8	1044	c.929G>A	c.(928-930)gGa>gAa	p.G310E	SDHA_ENST00000510361.1_Missense_Mutation_p.G262E|SDHA_ENST00000504309.1_Missense_Mutation_p.G310E	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	310					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	p.G310E(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATTACGGAAGGATGTCGTGGA	0.438									Familial Paragangliomas				93	150					0	0	0	0	A	233625	G	A	233625	3	1	74	1	0	0	0	0	1	0	0	0	14050	1174	41	2	959	2	SDHA	5	233625	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08		233625	180681635	54	14104											
CTNND2	1501	broad.mit.edu	37	chr5	11732259	11732259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctacctgttctttgaCtgaggcgaggatggcagagg	7	13	14	7	1	2	3	0	2	2	1	2	5	2	4	1	4	1	3	1	4	1	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:11732259C>A	ENST00000304623.8	-	2	352	c.163G>T	c.(163-165)Gtc>Ttc	p.V55F	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.V55F	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	55					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.V55F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGTTCTTTGACTGAGGCGAGG	0.423													66	104					2.15316e-23	2.57593e-23	1	0	A	11732259	C	A	11732259	3	1	74	1	0	0	0	0	1	0	0	0	4052	565	20	4	3598	4	CTNND2	5	11732259	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	11498634	11732259	169183001	55	14105											
CDH10	1008	broad.mit.edu	37	chr5	24511507	24511507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatatcagtaccgtcacCatcaataattcggtattcta	15	12	4	10	2	4	0	3	0	1	0	5	0	4	0	2	1	2	2	2	1	7	7			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:24511507C>A	ENST00000264463.4	-	6	1438	c.931G>T	c.(931-933)Ggt>Tgt	p.G311C		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	311	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTACCGTCACCATCAATAATT	0.433										HNSCC(23;0.051)			87	161					1.79992e-35	2.18323e-35	1	0	A	24511507	C	A	24511507	3	1	74	1	0	0	0	0	1	0	0	0	3125	594	21	4	1463	4	CDH10	5	24511507	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	12779248	24511507	156403753	56	14106											
CDH9	1007	broad.mit.edu	37	chr5	26881576	26881576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactgtcttctcttgcctctGgattccttaatgtgccaatg	6	17	7	11	0	3	0	0	0	3	0	5	1	4	1	3	1	3	0	3	1	3	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:26881576G>T	ENST00000231021.4	-	12	2211	c.2039C>A	c.(2038-2040)cCa>cAa	p.P680Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	680					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTTGCCTCTGGATTCCTTAA	0.433													14	267					1.49906e-05	1.63647e-05	1	0	T	26881576	G	T	26881576	3	4	74	1	0	0	0	0	1	0	0	0	3146	1348	47	4	334	4	CDH9	5	26881576	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	2370069	26881576	154033684	57	14107											
C6	729	broad.mit.edu	37	chr5	41199909	41199909	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttgcagtcagcctcttCaattttgcagagcttagatg	9	15	8	9	0	4	2	2	0	2	2	4	2	4	2	1	0	4	3	1	0	2	6			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:41199909C>A	ENST00000263413.3	-	4	670	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	C6_ENST00000337836.5_Nonsense_Mutation_p.E136*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	136					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.E136*(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCAGCCTCTTCAATTTTGCAG	0.428													5	154					0.000602214	0.000649301	1	0	A	41199909	C	A	41199909	4	1	74	1	0	0	0	0	0	1	0	0	2336	835	29	2	2458	2	C6	5	41199909	Nonsense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	14318333	41199909	139715351	58	14108											
KCNN2	3781	broad.mit.edu	37	chr5	113699624	113699624	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtcgctgtattccttagctCtgaaatgccttatcagtctc	7	15	7	12	2	3	1	1	1	2	0	6	1	4	1	2	0	2	3	2	0	4	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:113699624C>T	ENST00000512097.3	+	3	1526	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Silent_p.L170L			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	170						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.L170L(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TTCCTTAGCTCTGAAATGCCT	0.483													43	84					0	0	0	0	T	113699624	C	T	113699624	2	4	74	1	0	0	0	0	0	0	0	1	8132	912	32	2		2	KCNN2	5	113699624	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	72499715	113699624	67215636	59	14109											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711638	140711638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctactctgcctacattcccGaaaacaaccccagaggagcc	12	6	6	17	1	1	1	0	0	1	1	2	3	2	2	6	1	6	0	6	1	5	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:140711638G>A	ENST00000517417.1	+	1	1387	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E463K	NM_018912.2	NP_061735.1												p.E463K(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACATTCCCGAAAACAACCC	0.468													68	123					0	0	0	0	A	140711638	G	A	140711638	3	1	74	1	0	0	0	0	1	0	0	0	11621	1059	37	1	1389	1	PCDHGA1	5	140711638	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	27012014	140711638	40203622	60	14110											
C5orf58	133874	broad.mit.edu	37	chr5	169673114	169673114	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttctaacagtttttctatCtgatttcttatttgttatga	8	23	5	5	0	4	2	0	2	4	0	4	2	4	2	0	0	1	3	0	0	4	9			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:169673114C>G	ENST00000521850.1	+	3	1995	c.306C>G	c.(304-306)atC>atG	p.I102M	C5orf58_ENST00000593851.1_Missense_Mutation_p.I102M|C5orf58_ENST00000517575.1_Intron			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	102										large_intestine(1)|lung(4)|urinary_tract(1)	6						GTTTTTCTATCTGATTTCTTA	0.294													3	75					0	0	0	0	G	169673114	C	G	169673114	3	3	74	1	0	0	0	0	1	0	0	0	2334	903	32	2	316	2	C5orf58	5	169673114	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	28961476	169673114	11242146	61	14111											
RUFY1	80230	broad.mit.edu	37	chr5	178987158	178987158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcccccttgcagcagtTctttgtagtgatggagcact	7	12	10	12	0	1	1	0	1	1	0	1	2	1	2	3	1	4	5	3	1	1	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:178987158T>C	ENST00000377001.2	+	2	443	c.443T>C	c.(442-444)tTc>tCc	p.F148S	RUFY1_ENST00000437570.2_Missense_Mutation_p.F40S|RUFY1_ENST00000393438.2_Missense_Mutation_p.F40S|RUFY1_ENST00000319449.4_Missense_Mutation_p.F148S			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	148	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	p.F40S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCAGCAGTTCTTTGTAGTG	0.572										HNSCC(44;0.11)			14	25					0	0	0	0	C	178987158	T	C	178987158	3	2	74	1	0	0	0	0	1	0	0	0	13823	1783	62	5	449	5	RUFY1	5	178987158	Missense_Mutation	SNP	T	TCGA-CN-4741-01A-01D-1434-08	9314044	178987158	1928102	62	14112											
MAML1	9794	broad.mit.edu	37	chr5	179201801	179201801	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtggctggacacaccgatCtgatcgactccctgctgaag	8	9	12	12	2	1	2	0	2	1	0	3	5	2	3	2	2	1	2	2	2	1	0			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:179201801C>T	ENST00000292599.3	+	5	3237	c.2974C>T	c.(2974-2976)Ctg>Ttg	p.L992L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	992					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACACACCGATCTGATCGACTC	0.557													5	107					0	0	0	0	T	179201801	C	T	179201801	2	4	74	1	0	0	0	0	0	0	0	1	9274	912	32	2		2	MAML1	5	179201801	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	214643	179201801	1713459	63	14113											
PRPF4B	8899	broad.mit.edu	37	chr6	4032653	4032653	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagttgatttaagaggtaAatccaaagacagaaggtcac	16	8	9	8	0	1	4	1	1	0	3	2	4	2	4	2	2	0	2	2	2	5	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:4032653A>G	ENST00000337659.6	+	2	1002	c.902A>G	c.(901-903)aAa>aGa	p.K301R	PRPF4B_ENST00000538861.1_Missense_Mutation_p.K287R	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	301	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	p.K301R(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TTAAGAGGTAAATCCAAAGAC	0.353													122	30					0	0	0	0	G	4032653	A	G	4032653	3	3	74	1	0	0	0	0	1	0	0	0	12653	14	1	5	908	5	PRPF4B	6	4032653	Missense_Mutation	SNP	A	TCGA-CN-4741-01A-01D-1434-08		4032653	167082414	64	14114											
PRPF4B	8899	broad.mit.edu	37	chr6	4044117	4044117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcagcccccagagcagtaCgagaacacgatcaccatctc	14	4	8	15	2	2	2	1	0	1	2	3	4	2	2	3	0	5	3	3	0	3	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:4044117C>T	ENST00000337659.6	+	6	1821	c.1721C>T	c.(1720-1722)aCg>aTg	p.T574M	PRPF4B_ENST00000538861.1_Missense_Mutation_p.T560M	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	574						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	p.T574M(1)|p.T63M(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CAGAGCAGTACGAGAACACGA	0.418													60	20					0	0	0	0	T	4044117	C	T	4044117	3	4	74	1	0	0	0	0	1	0	0	0	12653	536	19	1	1743	1	PRPF4B	6	4044117	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	11464	4044117	167070950	65	14115											
TREML2	79865	broad.mit.edu	37	chr6	41162432	41162432	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagagcctaggcaaggtgatGagtcctggggtgaacaccat	12	7	14	8	0	0	4	0	3	0	1	1	4	1	4	3	4	2	1	3	4	4	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:41162432G>C	ENST00000483722.1	-	3	701	c.516C>G	c.(514-516)ctC>ctG	p.L172L		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	172					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAAGGTGATGAGTCCTGGGG	0.577													7	40					0	0	0	0	C	41162432	G	C	41162432	2	2	74	1	0	0	0	0	0	0	0	1	16568	1277	45	2		2	TREML2	6	41162432	Silent	SNP	G	TCGA-CN-4741-01A-01D-1434-08	37118315	41162432	129952635	66	14116											
DEFB114	245928	broad.mit.edu	37	chr6	49928019	49928019	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttttcaaaacatatcatCttcttcatacaatttctcag	12	18	1	10	0	7	0	4	0	4	0	8	0	7	0	0	0	2	0	0	0	5	8			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:49928019C>G	ENST00000322066.3	-	2	195	c.196G>C	c.(196-198)Gat>Cat	p.D66H		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	66					defense response to bacterium	extracellular region		p.D66H(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					AACATATCATCTTCTTCATAC	0.358													17	39					0	0	0	0	G	49928019	C	G	49928019	3	3	74	1	0	0	0	0	1	0	0	0	4439	913	32	2	16	2	DEFB114	6	49928019	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	8765587	49928019	121187048	67	14117											
SENP6	26054	broad.mit.edu	37	chr6	76376512	76376512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcctgctgattcagcatGttcttcccctgcaccatcca	7	12	6	16	0	3	1	2	1	1	0	5	1	5	1	5	0	4	4	5	0	0	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:76376512G>C	ENST00000370014.3	+	10	1698	c.1079G>C	c.(1078-1080)tGt>tCt	p.C360S	SENP6_ENST00000370010.2_Missense_Mutation_p.C353S|SENP6_ENST00000447266.2_Missense_Mutation_p.C360S|SENP6_ENST00000327284.8_Missense_Mutation_p.C353S	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	360					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GATTCAGCATGTTCTTCCCCT	0.423													20	87					0	0	0	0	C	76376512	G	C	76376512	3	2	74	1	0	0	0	0	1	0	0	0	14137	1377	48	4	1117	4	SENP6	6	76376512	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	26448493	76376512	94738555	68	14118											
IBTK	25998	broad.mit.edu	37	chr6	82923970	82923970	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaaattactgaagtcgaaTttctttgcaacagtttgcaa	13	14	6	8	1	2	1	1	1	1	0	3	2	2	1	0	0	4	3	0	0	6	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:82923970T>C	ENST00000306270.7	-	12	2727	c.2178A>G	c.(2176-2178)aaA>aaG	p.K726K	IBTK_ENST00000510291.1_Silent_p.K726K|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	726					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	p.K726K(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGAAGTCGAATTTCTTTGCAA	0.353													42	69					0	0	0	0	C	82923970	T	C	82923970	2	2	74	1	0	0	0	0	0	0	0	1	7529	1490	52	5		5	IBTK	6	82923970	Silent	SNP	T	TCGA-CN-4741-01A-01D-1434-08	6547458	82923970	88191097	69	14119											
CDC40	51362	broad.mit.edu	37	chr6	110530349	110530349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaagtttaaagaaaatGatgcatccaatattgatggt	18	11	9	3	0	0	3	0	2	0	1	1	4	1	4	1	2	1	2	1	2	8	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:110530349G>T	ENST00000368932.1	+	6	654	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	CDC40_ENST00000307731.1_Missense_Mutation_p.D185Y|CDC40_ENST00000368930.1_Missense_Mutation_p.D185Y|CDC40_ENST00000368933.1_Missense_Mutation_p.D185Y			O60508	PRP17_HUMAN	cell division cycle 40	185					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TAAAGAAAATGATGCATCCAA	0.299													6	70					5.9392e-07	6.59352e-07	1	0	T	110530349	G	T	110530349	3	4	74	1	0	0	0	0	1	0	0	0	3099	1290	45	2	571	2	CDC40	6	110530349	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	27606379	110530349	60584718	70	14120											
SNX8	29886	broad.mit.edu	37	chr7	2303947	2303947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctaccttagctccttcccGaatatgagaagatctgccgc	10	10	7	14	2	1	2	0	1	1	2	3	4	3	2	5	0	3	1	5	0	5	4	rs150793236	byFrequency	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:2303947G>T	ENST00000222990.3	-	6	810	c.768C>A	c.(766-768)ttC>ttA	p.F256L		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	256					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GCTCCTTCCCGAATATGAGAA	0.572													3	49					0.115264	0.121282	1	0	T	2303947	G	T	2303947	3	4	74	1	0	0	0	0	1	0	0	0	14996	1049	37	3	653	3	SNX8	7	2303947	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08		2303947	156834716	71	14121											
THSD7A	221981	broad.mit.edu	37	chr7	11468681	11468681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaggacttgctgcagcGcgaccagttggaccactcac	9	6	10	16	2	1	0	1	0	0	0	1	3	1	2	3	2	3	3	3	2	0	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:11468681G>A	ENST00000423059.3	-	14	3387	c.3136C>T	c.(3136-3138)Cgc>Tgc	p.R1046C	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1046	TSP type-1 11.					integral to membrane		p.R1046C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTGCTGCAGCGCGACCAGTTG	0.517										HNSCC(18;0.044)			110	166					0	0	0	0	A	11468681	G	A	11468681	3	1	74	1	0	0	0	0	1	0	0	0	15973	1087	38	1	1893	1	THSD7A	7	11468681	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	9164734	11468681	147669982	72	14122											
THSD7A	221981	broad.mit.edu	37	chr7	11676072	11676072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggcacacctggaactccGtcaggtttggacagccagag	10	8	12	11	1	1	1	1	0	0	1	2	3	2	3	3	4	2	2	3	4	1	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:11676072G>A	ENST00000423059.3	-	2	958	c.707C>T	c.(706-708)aCg>aTg	p.T236M		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	236	TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGGAACTCCGTCAGGTTTGG	0.657										HNSCC(18;0.044)			4	38					0	0	0	0	A	11676072	G	A	11676072	3	1	74	1	0	0	0	0	1	0	0	0	15973	1145	40	1	4370	1	THSD7A	7	11676072	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	207391	11676072	147462591	73	14123											
SAMD9L	219285	broad.mit.edu	37	chr7	92764127	92764127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccttcttcattgccttCattccatactcttcttcagc	5	18	2	16	0	7	0	3	0	4	0	9	0	8	0	3	0	3	0	3	0	1	8			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:92764127C>A	ENST00000318238.4	-	5	2374	c.1158G>T	c.(1156-1158)atG>atT	p.M386I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.M386I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.M386I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	386										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCATTGCCTTCATTCCATACT	0.393													34	349					2.85442e-18	3.33865e-18	1	0	A	92764127	C	A	92764127	3	1	74	1	0	0	0	0	1	0	0	0	13912	826	29	2	3600	2	SAMD9L	7	92764127	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	81088055	92764127	66374536	74	14124											
SAMD9L	219285	broad.mit.edu	37	chr7	92764780	92764780	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggctgtcatggaactgatCaaaaggatatggcatacaag	15	9	11	6	0	2	1	2	1	0	0	2	3	2	3	0	4	2	2	0	4	6	2	rs144605831	byFrequency	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:92764780C>G	ENST00000318238.4	-	5	1721	c.505G>C	c.(505-507)Gat>Cat	p.D169H	SAMD9L_ENST00000411955.1_Missense_Mutation_p.D169H|SAMD9L_ENST00000437805.1_Missense_Mutation_p.D169H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	169										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGGAACTGATCAAAAGGATAT	0.363													18	231					0	0	0	0	G	92764780	C	G	92764780	3	3	74	1	0	0	0	0	1	0	0	0	13912	826	29	2	4253	2	SAMD9L	7	92764780	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	653	92764780	66373883	75	14125											
PLOD3	8985	broad.mit.edu	37	chr7	100859263	100859263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccttgtacttccactggcGcacgatttggtggatggtgg	6	13	13	9	2	0	0	0	0	0	0	2	2	2	1	2	5	1	2	2	5	1	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:100859263G>A	ENST00000223127.3	-	5	939	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	181					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R181C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TTCCACTGGCGCACGATTTGG	0.617													34	61					0	0	0	0	A	100859263	G	A	100859263	3	1	74	1	0	0	0	0	1	0	0	0	12175	1087	38	1	1735	1	PLOD3	7	100859263	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	8094483	100859263	58279400	76	14126											
FOXP2	93986	broad.mit.edu	37	chr7	114299704	114299704	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacggacatttgcttacttCaggcgtaatgcagcaacttg	11	11	9	10	2	1	0	1	0	0	0	1	1	1	1	0	2	5	4	0	2	3	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:114299704C>G	ENST00000408937.3	+	14	2072	c.1698C>G	c.(1696-1698)ttC>ttG	p.F566L	FOXP2_ENST00000393489.3_Missense_Mutation_p.F449L|FOXP2_ENST00000393494.2_Missense_Mutation_p.F541L|FOXP2_ENST00000393491.3_Missense_Mutation_p.F356L|FOXP2_ENST00000403559.4_Missense_Mutation_p.F558L|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.F541L|FOXP2_ENST00000393498.2_Missense_Mutation_p.F520L	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	541					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTGCTTACTTCAGGCGTAATG	0.393													4	127					0	0	0	0	G	114299704	C	G	114299704	3	3	74	1	0	0	0	0	1	0	0	0	6074	825	29	2	1836	2	FOXP2	7	114299704	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	13440441	114299704	44838959	77	14127											
PTPRZ1	5803	broad.mit.edu	37	chr7	121653325	121653325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcatagtgccaaatctGatgccggtttagtgggtggt	8	13	14	6	1	2	2	1	2	1	0	2	2	2	2	2	3	2	1	2	3	3	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:121653325G>T	ENST00000393386.2	+	12	4636	c.4225G>T	c.(4225-4227)Gat>Tat	p.D1409Y	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1409					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.D1409Y(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGCCAAATCTGATGCCGGTTT	0.448													68	89					1.84395e-34	2.21612e-34	1	0	T	121653325	G	T	121653325	3	4	74	1	0	0	0	0	1	0	0	0	12896	1290	45	2	4271	2	PTPRZ1	7	121653325	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	7353621	121653325	37485338	78	14128											
CPA2	1358	broad.mit.edu	37	chr7	129929571	129929571	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcaatcatggagcatgtgcGagaccacccctattagggcc	10	7	12	12	1	1	1	1	0	0	1	1	3	1	2	4	3	2	2	4	3	3	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:129929571G>C	ENST00000222481.4	+	11	1299	c.1244G>C	c.(1243-1245)cGa>cCa	p.R415P		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	415					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	p.R413P(1)|p.R413L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GAGCATGTGCGAGACCACCCC	0.517													33	85					0	0	0	0	C	129929571	G	C	129929571	3	2	74	1	0	0	0	0	1	0	0	0	3820	1058	37	3	1286	3	CPA2	7	129929571	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	8276246	129929571	29209092	79	14129											
TRIM24	8805	broad.mit.edu	37	chr7	138210029	138210029	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaatcagaaagtgatcAtagatacactaatcaccaaa	19	9	5	8	0	4	4	4	1	0	3	4	4	4	4	1	0	1	0	1	0	6	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:138210029A>G	ENST00000343526.4	+	5	1023	c.808A>G	c.(808-810)Ata>Gta	p.I270V	TRIM24_ENST00000415680.2_Missense_Mutation_p.I270V|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	270					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	p.I270V(2)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GAAAGTGATCATAGATACACT	0.269													11	33					0	0	0	0	G	138210029	A	G	138210029	3	3	74	1	0	0	0	0	1	0	0	0	16593	217	8	5	826	5	TRIM24	7	138210029	Missense_Mutation	SNP	A	TCGA-CN-4741-01A-01D-1434-08	8280458	138210029	20928634	80	14130											
KIAA1549	57670	broad.mit.edu	37	chr7	138545904	138545904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcagggattgttggccGtctgggctgggctgtagaag	6	10	17	8	1	1	1	0	0	1	1	1	2	1	2	1	4	1	5	1	4	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:138545904G>A	ENST00000440172.1	-	16	5276	c.5228C>T	c.(5227-5229)aCg>aTg	p.T1743M	KIAA1549_ENST00000422774.1_Missense_Mutation_p.T1743M|KIAA1549_ENST00000242365.4_Missense_Mutation_p.T1693M	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1743						integral to membrane		p.T1693M(1)|p.T1743M(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATTGTTGGCCGTCTGGGCTGG	0.602			O	BRAF	pilocytic astrocytoma								44	54					0	0	0	0	A	138545904	G	A	138545904	3	1	74	1	0	0	0	0	1	0	0	0	8295	1145	40	1	644	1	KIAA1549	7	138545904	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	335875	138545904	20592759	81	14131											
ZNF786	136051	broad.mit.edu	37	chr7	148768162	148768162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccttgccacactcccCgcacgagaacggcctctcct	8	6	8	19	3	1	1	0	0	1	1	3	3	2	1	6	1	3	1	6	1	2	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:148768162C>A	ENST00000316286.9	-	3	1716	c.1444G>T	c.(1444-1446)Ggg>Tgg	p.G482W	ZNF786_ENST00000451334.3_Missense_Mutation_p.G531W|ZNF786_ENST00000491431.1_Missense_Mutation_p.G568W			Q8N393	ZN786_HUMAN	zinc finger protein 786	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCACACTCCCCGCACGAGAAC	0.632													3	20					0.150653	0.156013	1	0	A	148768162	C	A	148768162	3	1	74	1	0	0	0	0	1	0	0	0	18251	652	23	3	650	3	ZNF786	7	148768162	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	10222258	148768162	10370501	82	14132											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37729045	37729045	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggctgggtacaggattgTccagggatgtgccaggaggc	8	7	19	7	0	0	0	0	0	0	0	1	3	1	3	2	7	2	2	2	7	1	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:37729045T>A	ENST00000330843.4	-	4	3287	c.3275A>T	c.(3274-3276)gAc>gTc	p.D1092V	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1092					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.D1092V(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TACAGGATTGTCCAGGGATGT	0.557											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	167	259					0	0	0	0	A	37729045	T	A	37729045	3	1	74	1	0	0	0	0	1	0	0	0	12975	1667	58	5	588	5	RAB11FIP1	8	37729045	Missense_Mutation	SNP	T	TCGA-CN-4741-01A-01D-1434-08		37729045	108634977	83	14133											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730417	37730417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaactctcagtttgcaactCtgccttagggagcaagggtg	10	11	11	9	0	2	0	1	0	2	0	3	1	2	1	1	2	5	3	1	2	5	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:37730417C>T	ENST00000330843.4	-	4	1915	c.1903G>A	c.(1903-1905)Gag>Aag	p.E635K	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	635					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GTTTGCAACTCTGCCTTAGGG	0.502													24	219					0	0	0	0	T	37730417	C	T	37730417	3	4	74	1	0	0	0	0	1	0	0	0	12975	922	32	2	1960	2	RAB11FIP1	8	37730417	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	1372	37730417	108633605	84	14134											
CHRNB3	1142	broad.mit.edu	37	chr8	42587115	42587115	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggcgtgtactcctatccctTtatcacgtattccttcgtcc	5	15	6	15	4	1	0	1	0	0	0	6	0	5	0	4	1	1	2	4	1	4	7			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:42587115T>C	ENST00000289957.2	+	5	793	c.665T>C	c.(664-666)tTt>tCt	p.F222S		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	222					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCCTATCCCTTTATCACGTAT	0.478													61	61					0	0	0	0	C	42587115	T	C	42587115	3	2	74	1	0	0	0	0	1	0	0	0	3421	1841	64	5	683	5	CHRNB3	8	42587115	Missense_Mutation	SNP	T	TCGA-CN-4741-01A-01D-1434-08	4856698	42587115	103776907	85	14135											
CA2	760	broad.mit.edu	37	chr8	86389459	86389459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcctcttctggaatgtgtGacctggattgtgctcaagga	7	13	11	10	0	3	1	1	1	2	0	4	4	4	4	3	3	1	1	3	3	2	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:86389459G>A	ENST00000285379.5	+	6	848	c.618G>A	c.(616-618)gtG>gtA	p.V206V		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	206					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TGGAATGTGTGACCTGGATTG	0.512													9	430					0	0	0	0	A	86389459	G	A	86389459	2	1	74	1	0	0	0	0	0	0	0	1	2541	1277	45	2		2	CA2	8	86389459	Silent	SNP	G	TCGA-CN-4741-01A-01D-1434-08	43802344	86389459	59974563	86	14136											
RGS22	26166	broad.mit.edu	37	chr8	101065137	101065137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttgcttgacggaggtGccagaatttcagttcagcac	8	13	12	8	1	2	2	2	1	0	1	2	3	2	3	1	3	3	4	1	3	1	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:101065137G>A	ENST00000360863.6	-	10	1776	c.1582C>T	c.(1582-1584)Cac>Tac	p.H528Y	RGS22_ENST00000523437.1_Missense_Mutation_p.H516Y|RGS22_ENST00000523287.1_Missense_Mutation_p.H347Y	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	528					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.H528Y(1)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGACGGAGGTGCCAGAATTTC	0.408													119	188					0	0	0	0	A	101065137	G	A	101065137	3	1	74	1	0	0	0	0	1	0	0	0	13388	1319	46	4	2284	4	RGS22	8	101065137	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	14675678	101065137	45298885	87	14137											
RIMS2	9699	broad.mit.edu	37	chr8	104898340	104898340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcataaatcaaagaaaggcGgtaaaatgcgccagatttcg	16	8	9	8	3	2	2	2	0	0	2	3	2	2	2	1	2	1	1	1	2	6	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:104898340G>A	ENST00000507740.1	+	2	1173	c.937G>A	c.(937-939)Ggt>Agt	p.G313S	RIMS2_ENST00000262231.10_Missense_Mutation_p.G313S|RIMS2_ENST00000406091.3_Missense_Mutation_p.G505S|RIMS2_ENST00000436393.2_Missense_Mutation_p.G283S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	536					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G313S(1)|p.G541S(1)|p.G283S(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAAGAAAGGCGGTAAAATGCG	0.428										HNSCC(12;0.0054)			34	49					0	0	0	0	A	104898340	G	A	104898340	3	1	74	1	0	0	0	0	1	0	0	0	13453	1116	39	1	1653	1	RIMS2	8	104898340	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	3833203	104898340	41465682	88	14138											
LRP12	29967	broad.mit.edu	37	chr8	105510194	105510194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggcacagatctcttcatCggaactatctccacattcat	10	14	5	12	1	4	1	2	0	2	1	7	2	4	2	1	2	1	1	1	2	2	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:105510194C>T	ENST00000276654.5	-	5	694	c.586G>A	c.(586-588)Gat>Aat	p.D196N	LRP12_ENST00000424843.2_Missense_Mutation_p.D177N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	196	LDL-receptor class A 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATCTCTTCATCGGAACTATCT	0.423													4	210					0	0	0	0	T	105510194	C	T	105510194	3	4	74	1	0	0	0	0	1	0	0	0	9018	884	31	1	2005	1	LRP12	8	105510194	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	611854	105510194	40853828	89	14139											
POU5F1B	5462	broad.mit.edu	37	chr8	128428272	128428272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgggccgggggttgggccagGctctgaggtgtgggggattc	3	8	22	8	2	1	1	0	1	1	0	2	2	1	2	2	8	0	2	2	8	0	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:128428272G>A	ENST00000465342.2	+	2	1318	c.161G>A	c.(160-162)gGc>gAc	p.G54D	POU5F1B_ENST00000391675.1_Missense_Mutation_p.G54D|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	54						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						GTTGGGCCAGGCTCTGAGGTG	0.677													9	8					0	0	0	0	A	128428272	G	A	128428272	3	1	74	1	0	0	0	0	1	0	0	0	12353	1203	42	4	163	4	POU5F1B	8	128428272	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	22918078	128428272	17935750	90	14140											
ZNF16	7564	broad.mit.edu	37	chr8	146157609	146157609	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacactgtgctggaaactCtggccacccatgtcatatgg	9	10	9	13	0	2	0	1	0	1	0	3	1	3	1	3	3	2	1	3	3	2	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:146157609C>G	ENST00000276816.4	-	4	750	c.564G>C	c.(562-564)caG>caC	p.Q188H	ZNF16_ENST00000394909.2_Missense_Mutation_p.Q188H	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GCTGGAAACTCTGGCCACCCA	0.493													28	260					0	0	0	0	G	146157609	C	G	146157609	3	3	74	1	0	0	0	0	1	0	0	0	17833	912	32	2	1488	2	ZNF16	8	146157609	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	17729337	146157609	206413	91	14141											
AGTPBP1	23287	broad.mit.edu	37	chr9	88162058	88162058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttgataattcagagtcaGaaagtacttcttcttgagca	12	15	7	7	0	5	4	2	2	3	2	5	4	5	4	0	0	2	2	0	0	3	8			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:88162058G>A	ENST00000357081.3	-	26	3791	c.3647C>T	c.(3646-3648)tCt>tTt	p.S1216F	AGTPBP1_ENST00000432218.1_3'UTR|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.S1228F|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.S1176F			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1216					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTCAGAGTCAGAAAGTACTTC	0.363													8	152					0	0	0	0	A	88162058	G	A	88162058	3	1	74	1	0	0	0	0	1	0	0	0	400	942	33	2	37	2	AGTPBP1	9	88162058	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08		88162058	53051373	92	14142											
ZNF883	169834	broad.mit.edu	37	chr9	115760138	115760138	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaagggcagagatatggctGaaagctttcccacattcatt	12	11	10	8	0	1	2	1	1	0	1	2	3	2	2	1	2	1	4	1	2	3	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:115760138G>A	ENST00000427548.1	-	0	1675							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGATATGGCTGAAAGCTTTCC	0.393													6	115					0	0	0	0	A	115760138	G	A	115760138	1	1	74	0	1	0	0	0	0	0	0	0	18291	1281	45	2		2	ZNF883	9	115760138	RNA	SNP	G	TCGA-CN-4741-01A-01D-1434-08	27598080	115760138	25453293	93	14143											
PAPPA	5069	broad.mit.edu	37	chr9	118949729	118949729	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacccagaagtgcaaagtgCtcatgttagggggcagtgcc	10	8	14	9	0	1	2	1	1	0	1	1	2	1	2	2	2	3	4	2	2	3	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:118949729C>G	ENST00000328252.3	+	2	1081	c.712C>G	c.(712-714)Ctc>Gtc	p.L238V		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	238					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.L238V(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGCAAAGTGCTCATGTTAGG	0.557													19	155					0	0	0	0	G	118949729	C	G	118949729	3	3	74	1	0	0	0	0	1	0	0	0	11503	797	28	4	718	4	PAPPA	9	118949729	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	3189591	118949729	22263702	94	14144											
OR1N2	138882	broad.mit.edu	37	chr9	125315718	125315718	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattaactgatgcctgtttCacttctgcctccatccccaa	8	14	4	15	0	3	1	2	1	1	0	5	1	5	1	5	0	3	1	5	0	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:125315718C>T	ENST00000373688.2	+	1	328	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ATGCCTGTTTCACTTCTGCCT	0.483													13	398					0	0	0	0	T	125315718	C	T	125315718	2	4	74	1	0	0	0	0	0	0	0	1	11041	825	29	2		2	OR1N2	9	125315718	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	6365989	125315718	15897713	95	14145											
SPTAN1	6709	broad.mit.edu	37	chr9	131370227	131370227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggacactatgccagccctGagatcaagcagaaacttgat	14	7	9	11	1	1	3	1	2	0	2	1	5	1	4	2	1	4	1	2	1	3	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:131370227G>A	ENST00000358161.5	+	33	4356	c.4243G>A	c.(4243-4245)Gag>Aag	p.E1415K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1415K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1415K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1415					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCCAGCCCTGAGATCAAGCA	0.547													7	158					0	0	0	0	A	131370227	G	A	131370227	3	1	74	1	0	0	0	0	1	0	0	0	15207	1291	45	2	4369	2	SPTAN1	9	131370227	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	6054509	131370227	9843204	96	14146											
ZER1	10444	broad.mit.edu	37	chr9	131503106	131503106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcctcagctccttcacttCtgccacattccccaaaagtc	9	10	5	17	0	3	0	2	0	1	0	6	0	5	0	5	1	2	1	5	1	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:131503106C>T	ENST00000291900.2	-	12	2204	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	600					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TCCTTCACTTCTGCCACATTC	0.463													12	192					0	0	0	0	T	131503106	C	T	131503106	3	4	74	1	0	0	0	0	1	0	0	0	17720	922	32	2	522	2	ZER1	9	131503106	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	132879	131503106	9710325	97	14147											
ITIH5	80760	broad.mit.edu	37	chr10	7605143	7605143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccgtcaatcagtttggcgGcattgttcctggcaaaccag	8	10	10	13	2	2	0	2	0	0	0	3	0	3	0	4	3	1	4	4	3	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:7605143G>A	ENST00000256861.6	-	14	2810	c.2732C>T	c.(2731-2733)gCc>gTc	p.A911V	ITIH5_ENST00000446830.2_Missense_Mutation_p.A693V|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.A697V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	911					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGTTTGGCGGCATTGTTCCT	0.522													4	216					0	0	0	0	A	7605143	G	A	7605143	3	1	74	1	0	0	0	0	1	0	0	0	7960	1203	42	4	142	4	ITIH5	10	7605143	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08		7605143	127929604	98	14148											
NRP1	8829	broad.mit.edu	37	chr10	33552574	33552574	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttcctgtcattcttacCatcagggaatccatcccaga	9	12	7	13	0	3	1	2	0	1	1	6	2	6	2	4	1	2	1	4	1	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:33552574C>T	ENST00000265371.4	-	5	1183	c.658_splice	c.e5+1	p.V220_splice	NRP1_ENST00000374823.5_Splice_Site_p.V220_splice|NRP1_ENST00000374822.4_Splice_Site_p.V220_splice|NRP1_ENST00000395995.1_Splice_Site_p.V220_splice|NRP1_ENST00000374821.5_Splice_Site_p.V220_splice|NRP1_ENST00000374816.3_Splice_Site_p.V220_splice|NRP1_ENST00000374867.2_Splice_Site_p.V220_splice			O14786	NRP1_HUMAN	neuropilin 1	220	CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCATTCTTACCATCAGGGAAT	0.463													9	44					0	0	0	0	T	33552574	C	T	33552574	5	4	74	1	0	0	0	0	0	0	1	0	10731	608	21	4	2180	4	NRP1	10	33552574	Splice_Site	SNP	C	TCGA-CN-4741-01A-01D-1434-08	25947431	33552574	101982173	99	14149											
INPP5F	22876	broad.mit.edu	37	chr10	121586186	121586186	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatcattggtatcaggtctCaaaaccaaggttctttggcc	11	12	8	10	0	4	0	3	0	2	0	5	0	4	0	2	4	1	2	2	4	4	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:121586186C>G	ENST00000361976.2	+	20	2459	c.2293C>G	c.(2293-2295)Caa>Gaa	p.Q765E	INPP5F_ENST00000369080.3_Missense_Mutation_p.Q155E	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	765							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TATCAGGTCTCAAAACCAAGG	0.363													18	254					0	0	0	0	G	121586186	C	G	121586186	3	3	74	1	0	0	0	0	1	0	0	0	7811	827	29	2	2371	2	INPP5F	10	121586186	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	88033612	121586186	13948561	100	14150											
JAKMIP3	282973	broad.mit.edu	37	chr10	133948575	133948575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgaaaaagatgcccggCgcttccagcttaaaatcgcg	12	8	11	10	4	0	2	0	1	0	1	2	3	1	3	2	2	2	2	2	2	4	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:133948575C>T	ENST00000298622.4	+	4	1018	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3									p.R294C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGATGCCCGGCGCTTCCAGCT	0.502													23	38					0	0	0	0	T	133948575	C	T	133948575	3	4	74	1	0	0	0	0	1	0	0	0	7995	768	27	1	894	1	JAKMIP3	10	133948575	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	12362389	133948575	1586172	101	14151											
AMPD3	272	broad.mit.edu	37	chr11	10516545	10516545	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgaaaactgaaaactatCtgggaggagagtactttgct	14	12	10	5	0	1	3	0	2	1	1	1	5	1	4	0	2	4	2	0	2	6	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:10516545C>G	ENST00000444303.2	+	7	1229	c.757C>G	c.(757-759)Ctg>Gtg	p.L253V	AMPD3_ENST00000396554.3_Missense_Mutation_p.L421V	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	412					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGAAAACTATCTGGGAGGAGA	0.537													5	243					0	0	0	0	G	10516545	C	G	10516545	3	3	74	1	0	0	0	0	1	0	0	0	587	912	32	2	1311	2	AMPD3	11	10516545	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08		10516545	124489971	102	14152											
CAT	847	broad.mit.edu	37	chr11	34470887	34470887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgagagagaattcctgagaGagttgtgcatgctaaaggag	13	8	14	6	1	0	4	0	1	0	3	1	8	1	5	2	1	2	3	2	1	3	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:34470887G>C	ENST00000241052.4	+	2	304	c.215G>C	c.(214-216)aGa>aCa	p.R72T		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	72					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ATTCCTGAGAGAGTTGTGCAT	0.438													13	162					0	0	0	0	C	34470887	G	C	34470887	3	2	74	1	0	0	0	0	1	0	0	0	2711	942	33	2	221	2	CAT	11	34470887	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	23954342	34470887	100535629	103	14153											
RAG1	5896	broad.mit.edu	37	chr11	36596040	36596040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaataaagggggccggcccCgccaacatcttctgtcgctg	8	9	11	13	3	2	0	0	0	2	0	3	0	2	0	4	3	1	1	4	3	4	3	rs104894289		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:36596040C>T	ENST00000299440.5	+	2	1298	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	396			R -> C (in OS).|R -> H (in OS).|R -> L (in OS).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGGCCGGCCCCGCCAACATCT	0.483									Familial Hemophagocytic Lymphohistiocytosis				32	74					0	0	0	0	T	36596040	C	T	36596040	3	4	74	1	0	0	0	0	1	0	0	0	13085	652	23	1	1188	1	RAG1	11	36596040	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	2125153	36596040	98410476	104	14154											
ANO1	55107	broad.mit.edu	37	chr11	70007338	70007338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccgccgccttggccatGaactcctccccctccgtgcg	4	8	10	19	4	0	1	0	1	0	0	3	1	3	1	8	2	2	0	8	2	1	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:70007338G>T	ENST00000355303.5	+	17	1955	c.1650G>T	c.(1648-1650)atG>atT	p.M550I	ANO1_ENST00000316296.5_Missense_Mutation_p.M492I|ANO1_ENST00000538023.1_Missense_Mutation_p.M550I|ANO1_ENST00000531349.1_Missense_Mutation_p.M259I|ANO1_ENST00000530676.1_Missense_Mutation_p.M404I|ANO1_ENST00000398543.2_Missense_Mutation_p.M404I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	550					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCTTGGCCATGAACTCCTCCC	0.582													22	44					8.10497e-08	9.0748e-08	1	0	T	70007338	G	T	70007338	3	4	74	1	0	0	0	0	1	0	0	0	694	1290	45	2	1716	2	ANO1	11	70007338	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	33411298	70007338	64999178	105	14155											
EED	8726	broad.mit.edu	37	chr11	85977185	85977185	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcattctcttaaacttTggaggatcaattcaaagaga	14	13	8	6	0	4	1	3	0	1	1	5	5	4	4	0	3	1	0	0	3	4	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:85977185T>C	ENST00000263360.6	+	8	1473	c.787T>C	c.(787-789)Tgg>Cgg	p.W263R	EED_ENST00000528180.1_Intron|EED_ENST00000351625.6_Missense_Mutation_p.W263R|EED_ENST00000327320.4_Missense_Mutation_p.W263R	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	263	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TCTTAAACTTTGGAGGATCAA	0.294													5	76					0	0	0	0	C	85977185	T	C	85977185	3	2	74	1	0	0	0	0	1	0	0	0	4958	1812	63	5	817	5	EED	11	85977185	Missense_Mutation	SNP	T	TCGA-CN-4741-01A-01D-1434-08	15969847	85977185	49029331	106	14156											
WNK1	65125	broad.mit.edu	37	chr12	1009828	1009828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaccaagcctttctgctcCaggtcaaggtaataaagcaa	14	9	8	10	0	2	0	1	0	1	0	3	0	3	0	3	2	4	4	3	2	7	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:1009828C>A	ENST00000537687.1	+	26	8058	c.7415C>A	c.(7414-7416)cCa>cAa	p.P2472Q	WNK1_ENST00000535572.1_Missense_Mutation_p.P1964Q|WNK1_ENST00000340908.4_Missense_Mutation_p.P1805Q|WNK1_ENST00000530271.2_Missense_Mutation_p.P2710Q|WNK1_ENST00000315939.6_Missense_Mutation_p.P2212Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2212					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.P2212Q(1)|p.P2472Q(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTTCTGCTCCAGGTCAAGGT	0.473													6	527					0.0293803	0.0312913	1	0	A	1009828	C	A	1009828	3	1	74	1	0	0	0	0	1	0	0	0	17473	594	21	4	8239	4	WNK1	12	1009828	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08		1009828	132842067	107	14157											
COPS7A	50813	broad.mit.edu	37	chr12	6833912	6833912	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggcagcgctggccacactCatccatcaggtgctggaggc	7	6	15	13	1	2	0	2	0	0	0	3	1	3	1	2	6	2	3	2	6	0	0			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:6833912C>T	ENST00000543155.1	+	2	572	c.90C>T	c.(88-90)ctC>ctT	p.L30L	COPS7A_ENST00000534947.1_Silent_p.L30L|COPS7A_ENST00000538410.1_Silent_p.L30L|COPS7A_ENST00000534877.1_Silent_p.L30L|COPS7A_ENST00000542150.1_Intron|COPS7A_ENST00000229251.3_Silent_p.L30L|COPS7A_ENST00000539735.1_Silent_p.L30L	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	30					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						TGGCCACACTCATCCATCAGG	0.572													6	99					0	0	0	0	T	6833912	C	T	6833912	2	4	74	1	0	0	0	0	0	0	0	1	3768	813	29	2		2	COPS7A	12	6833912	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	5824084	6833912	127017983	108	14158											
KIAA1467	57613	broad.mit.edu	37	chr12	13224219	13224219	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctccattgtttggagttaCcgtgctccgtgtcacatgaa	7	13	11	10	2	1	1	1	1	0	0	3	2	3	2	3	2	2	4	3	2	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:13224219C>T	ENST00000197268.8	+	10	1533	c.1413C>T	c.(1411-1413)taC>taT	p.Y471Y		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	471						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)		TTTGGAGTTACCGTGCTCCGT	0.512													6	132					0	0	0	0	T	13224219	C	T	13224219	2	4	74	1	0	0	0	0	0	0	0	1	8286	518	18	4		4	KIAA1467	12	13224219	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	6390307	13224219	120627676	109	14159											
SYT10	341359	broad.mit.edu	37	chr12	33560277	33560277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgcctcggcaggtgtcttCggaaggaactgtggctgaac	7	11	14	9	2	1	1	0	1	1	0	3	3	1	3	1	5	3	2	1	5	3	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:33560277C>T	ENST00000228567.3	-	3	820	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	175						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CAGGTGTCTTCGGAAGGAACT	0.438													5	166					0	0	0	0	T	33560277	C	T	33560277	3	4	74	1	0	0	0	0	1	0	0	0	15557	884	31	1	1067	1	SYT10	12	33560277	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	20336058	33560277	100291618	110	14160											
ALG10	84920	broad.mit.edu	37	chr12	34179707	34179707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttatgtcatttataggCttaacatacctctgcctccc	9	15	4	13	0	2	0	1	0	1	0	3	0	3	0	4	1	4	1	4	1	6	7			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:34179707C>G	ENST00000266483.2	+	3	1598	c.1279C>G	c.(1279-1281)Ctt>Gtt	p.L427V	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	427					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CATTTATAGGCTTAACATACC	0.338													116	201					0	0	0	0	G	34179707	C	G	34179707	3	3	74	1	0	0	0	0	1	0	0	0	511	797	28	4	1289	4	ALG10	12	34179707	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	619430	34179707	99672188	111	14161											
TROAP	10024	broad.mit.edu	37	chr12	49719906	49719906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccttccactcgccccagtttCcaggagctaagaagggagac	10	7	10	14	1	0	2	0	0	0	2	3	4	2	3	5	2	1	2	5	2	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:49719906C>T	ENST00000551245.1	+	6	792	c.681C>T	c.(679-681)ttC>ttT	p.F227F	TROAP_ENST00000257909.3_Silent_p.F227F			Q12815	TROAP_HUMAN	trophinin associated protein	227					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCCCAGTTTCCAGGAGCTAA	0.527													8	243					0	0	0	0	T	49719906	C	T	49719906	2	4	74	1	0	0	0	0	0	0	0	1	16670	854	30	2		2	TROAP	12	49719906	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	15540199	49719906	84131989	112	14162											
PAN2	9924	broad.mit.edu	37	chr12	56717884	56717884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatgaggctcgcacggtctCactgccacagcggcagaggc	8	5	15	13	3	1	2	1	1	1	1	3	3	1	3	1	5	2	3	1	5	0	0			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:56717884C>T	ENST00000425394.2	-	13	2390	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	PAN2_ENST00000548043.1_Missense_Mutation_p.E672K|PAN2_ENST00000257931.5_Missense_Mutation_p.E671K|PAN2_ENST00000440411.3_Missense_Mutation_p.E672K	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	672					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CGCACGGTCTCACTGCCACAG	0.542													5	135					0	0	0	0	T	56717884	C	T	56717884	3	4	74	1	0	0	0	0	1	0	0	0	11485	835	29	2	1650	2	PAN2	12	56717884	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	6997978	56717884	77134011	113	14163											
XPOT	11260	broad.mit.edu	37	chr12	64818958	64818958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgcaggatatgatgcGaactgtaagtatactggaga	12	12	12	5	1	0	2	0	1	0	1	0	5	0	3	0	2	5	4	0	2	5	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:64818958G>T	ENST00000332707.5	+	13	1977	c.1448G>T	c.(1447-1449)cGa>cTa	p.R483L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	483	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GATATGATGCGAACTGTAAGT	0.358													7	215					1.76689e-08	1.99537e-08	1	0	T	64818958	G	T	64818958	3	4	74	1	0	0	0	0	1	0	0	0	17546	1058	37	3	1494	3	XPOT	12	64818958	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	8101074	64818958	69032937	114	14164											
GRIP1	23426	broad.mit.edu	37	chr12	66742828	66742828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attagtgggttctcgtgtctCcaaattaccaccgtggctag	8	13	10	10	2	2	0	0	0	2	0	4	0	2	0	3	2	1	2	3	2	4	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:66742828C>T	ENST00000359742.4	-	25	3598	c.3358G>A	c.(3358-3360)Gag>Aag	p.E1120K	GRIP1_ENST00000286445.7_Missense_Mutation_p.E1105K|GRIP1_ENST00000398016.3_Missense_Mutation_p.E1068K			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	1120					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCTCGTGTCTCCAAATTACCA	0.408													29	332					0	0	0	0	T	66742828	C	T	66742828	3	4	74	1	0	0	0	0	1	0	0	0	6837	864	30	2	32	2	GRIP1	12	66742828	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	1923870	66742828	67109067	115	14165											
ACSS3	79611	broad.mit.edu	37	chr12	81532986	81532986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtaccacttgtagaagaagCgctaaaaataggacaacaca	18	6	8	9	2	0	2	0	0	0	2	0	3	0	3	1	1	3	3	1	1	9	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:81532986C>A	ENST00000548058.1	+	4	1632	c.722C>A	c.(721-723)gCg>gAg	p.A241E	ACSS3_ENST00000261206.3_Missense_Mutation_p.A240E			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	241						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTAGAAGAAGCGCTAAAAATA	0.353													48	69					2.29192e-23	2.72946e-23	1	0	A	81532986	C	A	81532986	3	1	74	1	0	0	0	0	1	0	0	0	190	768	27	3	736	3	ACSS3	12	81532986	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	14790158	81532986	52318909	116	14166											
RASSF9	9182	broad.mit.edu	37	chr12	86199550	86199550	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctctccacttctctaTgatgcagtaatcactgggct	8	12	9	12	0	3	1	1	1	2	0	5	2	3	2	2	2	2	3	2	2	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:86199550T>C	ENST00000361228.3	-	2	606	c.238A>G	c.(238-240)Ata>Gta	p.I80V		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	80	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	p.I80V(1)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CACTTCTCTATGATGCAGTAA	0.488													71	87					0	0	0	0	C	86199550	T	C	86199550	3	2	74	1	0	0	0	0	1	0	0	0	13175	1464	51	5	1073	5	RASSF9	12	86199550	Missense_Mutation	SNP	T	TCGA-CN-4741-01A-01D-1434-08	4666564	86199550	47652345	117	14167											
SPPL3	121665	broad.mit.edu	37	chr12	121206202	121206202	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgggccccaggtggagcttCcgggatagaacgtcaagggg	8	7	17	9	2	1	1	1	0	0	1	2	3	2	3	3	6	2	1	3	6	3	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:121206202C>T	ENST00000353487.2	-	8	1202	c.699G>A	c.(697-699)cgG>cgA	p.R233R		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	234						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGTGGAGCTTCCGGGATAGAA	0.542													6	237					0	0	0	0	T	121206202	C	T	121206202	2	4	74	1	0	0	0	0	0	0	0	1	15180	842	30	2		2	SPPL3	12	121206202	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	35006652	121206202	12645693	118	14168											
HSPH1	10808	broad.mit.edu	37	chr13	31712628	31712628	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagcattcatgacattattCatccattccatcacttcatt	11	16	3	11	0	4	2	4	2	0	0	6	2	6	2	2	0	1	1	2	0	1	6			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr13:31712628C>G	ENST00000320027.5	-	17	2630	c.2286G>C	c.(2284-2286)atG>atC	p.M762I	HSPH1_ENST00000429785.2_Missense_Mutation_p.M581I|HSPH1_ENST00000445273.2_Missense_Mutation_p.M764I|HSPH1_ENST00000380405.4_Missense_Mutation_p.M718I|HSPH1_ENST00000380406.5_Missense_Mutation_p.M721I	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	762					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGACATTATTCATCCATTCCA	0.358													6	234					0	0	0	0	G	31712628	C	G	31712628	3	3	74	1	0	0	0	0	1	0	0	0	7484	826	29	2	298	2	HSPH1	13	31712628	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08		31712628	83457250	119	14169											
NBEA	26960	broad.mit.edu	37	chr13	36241642	36241642	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatactatgaacgagggCgattcagtaatttcagcatt	13	13	8	7	2	3	1	3	1	0	0	3	3	3	1	0	1	3	2	0	1	5	7			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr13:36241642C>T	ENST00000540320.1	+	56	9067	c.8533C>T	c.(8533-8535)Cga>Tga	p.R2845*	NBEA_ENST00000310336.4_Nonsense_Mutation_p.R2845*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.R638*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.R423*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.R2845*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.R2842*			Q8NFP9	NBEA_HUMAN	neurobeachin	2845						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.R2845*(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGAACGAGGGCGATTCAGTAA	0.428													28	185					0	0	0	0	T	36241642	C	T	36241642	4	4	74	1	0	0	0	0	0	1	0	0	10257	760	27	1	8755	1	NBEA	13	36241642	Nonsense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	4529014	36241642	78928236	120	14170											
SPG20	23111	broad.mit.edu	37	chr13	36909222	36909222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatccaaaaacctcacaattCgaaggtacccaggatacgaa	17	7	6	11	2	1	0	1	0	0	0	3	3	2	1	3	2	3	1	3	2	8	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr13:36909222C>T	ENST00000451493.1	-	2	963	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.R249Q|SPG20_ENST00000438666.2_Missense_Mutation_p.R249Q|SPG20_ENST00000494062.2_Missense_Mutation_p.R249Q	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	249					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CCTCACAATTCGAAGGTACCC	0.398													4	164					0	0	0	0	T	36909222	C	T	36909222	3	4	74	1	0	0	0	0	1	0	0	0	15132	884	31	1	1286	1	SPG20	13	36909222	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	667580	36909222	78260656	121	14171											
ELF1	1997	broad.mit.edu	37	chr13	41533074	41533074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctcttccacacaggctaGaccggcataactattgagaa	12	8	10	11	1	1	2	0	1	1	2	2	3	2	2	2	3	1	3	2	3	4	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr13:41533074G>C	ENST00000239882.3	-	3	465	c.151C>G	c.(151-153)Cta>Gta	p.L51V	ELF1_ENST00000442101.1_Missense_Mutation_p.L51V|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	51					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L51V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		ACACAGGCTAGACCGGCATAA	0.453													42	71					0	0	0	0	C	41533074	G	C	41533074	3	2	74	1	0	0	0	0	1	0	0	0	5091	933	33	2	1736	2	ELF1	13	41533074	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	4623852	41533074	73636804	122	14172											
KIAA0391	9692	broad.mit.edu	37	chr14	35592848	35592848	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttaaggaagatttaaaaGaaaacaccggaaagaccagt	21	6	8	6	1	0	3	0	0	0	3	0	5	0	5	2	2	2	0	2	2	8	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr14:35592848G>C	ENST00000557565.1	+	2	778	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	KIAA0391_ENST00000603544.1_Missense_Mutation_p.E133Q|KIAA0391_ENST00000250377.7_Missense_Mutation_p.E38Q|KIAA0391_ENST00000534898.4_Missense_Mutation_p.E133Q|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000321130.10_Missense_Mutation_p.E133Q|KIAA0391_ENST00000604948.1_Missense_Mutation_p.E38Q			O15091	MRRP3_HUMAN	KIAA0391	133					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		AGATTTAAAAGAAAACACCGG	0.433													3	102					0	0	0	0	C	35592848	G	C	35592848	3	2	74	1	0	0	0	0	1	0	0	0	8223	943	33	2	399	2	KIAA0391	14	35592848	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08		35592848	71756692	123	14173											
PYGL	5836	broad.mit.edu	37	chr14	51398432	51398432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgattgaaaatcccatattCataccgaatgccgtatccat	13	12	5	11	2	1	2	1	2	0	0	3	3	3	2	4	0	2	1	4	0	6	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr14:51398432C>T	ENST00000216392.7	-	4	819	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	PYGL_ENST00000544180.2_Missense_Mutation_p.E129K|PYGL_ENST00000532462.1_Missense_Mutation_p.E163K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	163					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ATCCCATATTCATACCGAATG	0.438													4	200					0	0	0	0	T	51398432	C	T	51398432	3	4	74	1	0	0	0	0	1	0	0	0	12943	835	29	2	2124	2	PYGL	14	51398432	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	15805584	51398432	55951108	124	14174											
EIF2S1	1965	broad.mit.edu	37	chr14	67831504	67831504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgccgggtctaagttgtaGattttatcaacacaaatttc	13	14	7	7	1	2	1	1	0	1	1	3	1	2	1	1	1	2	2	1	1	6	6			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr14:67831504G>C	ENST00000256383.4	+	2	481	c.20G>C	c.(19-21)aGa>aCa	p.R7T	EIF2S1_ENST00000466499.2_Missense_Mutation_p.R7T	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	7						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		ctaagttgtagattttatcaa	0.363													3	151					0	0	0	0	C	67831504	G	C	67831504	3	2	74	1	0	0	0	0	1	0	0	0	5045	942	33	2	22	2	EIF2S1	14	67831504	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	16433072	67831504	39518036	125	14175											
ADAM20	8748	broad.mit.edu	37	chr14	70989722	70989722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaagtggtgtcattgaggtGaaactgctgcactgtagaat	11	11	13	6	0	1	3	1	2	0	1	1	3	1	3	0	2	3	4	0	2	4	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr14:70989722G>A	ENST00000256389.3	-	2	2147	c.1903C>T	c.(1903-1905)Cac>Tac	p.H635Y	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	585	EGF-like.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TCATTGAGGTGAAACTGCTGC	0.443													6	139					0	0	0	0	A	70989722	G	A	70989722	3	1	74	1	0	0	0	0	1	0	0	0	242	1290	45	2	431	2	ADAM20	14	70989722	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	3158218	70989722	36359818	126	14176											
NRXN3	9369	broad.mit.edu	37	chr14	80130147	80130147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaattggagttgtcttCaacattggcacagttgacat	12	12	11	6	0	2	1	1	1	1	0	2	3	2	3	0	3	1	3	0	3	3	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr14:80130147C>A	ENST00000281127.7	+	3	1335	c.456C>A	c.(454-456)ttC>ttA	p.F152L	NRXN3_ENST00000554719.1_Missense_Mutation_p.F784L|NRXN3_ENST00000428277.2_Missense_Mutation_p.F152L|NRXN3_ENST00000335750.5_Missense_Mutation_p.F784L|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000557594.1_Missense_Mutation_p.F152L|NRXN3_ENST00000556003.1_3'UTR	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	152	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane		p.F784L(1)|p.F152L(1)		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)		GAGTTGTCTTCAACATTGGCA	0.448													21	29					1.28384e-07	1.43134e-07	1	0	A	80130147	C	A	80130147	3	1	74	1	0	0	0	0	1	0	0	0	10738	825	29	2	2649	2	NRXN3	14	80130147	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	9140425	80130147	27219393	127	14177											
UBE3A	7337	broad.mit.edu	37	chr15	25616832	25616832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtttaactttccggaaGctctgtaccaatgcctcagc	8	14	8	11	1	2	0	1	0	1	0	3	1	3	1	3	1	5	4	3	1	4	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:25616832G>T	ENST00000232165.3	-	6	1145	c.489C>A	c.(487-489)agC>agA	p.S163R	UBE3A_ENST00000438097.1_Missense_Mutation_p.S143R|UBE3A_ENST00000566215.1_Missense_Mutation_p.S143R|UBE3A_ENST00000397954.2_Missense_Mutation_p.S166R|UBE3A_ENST00000428984.2_Missense_Mutation_p.S143R|SNHG14_ENST00000554726.1_RNA	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	166					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.S166R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTTTCCGGAAGCTCTGTACCA	0.363													70	106					7.07328e-35	8.54009e-35	1	0	T	25616832	G	T	25616832	3	4	74	1	0	0	0	0	1	0	0	0	16975	962	34	4	2161	4	UBE3A	15	25616832	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08		25616832	76914560	128	14178											
EIF2AK4	440275	broad.mit.edu	37	chr15	40241351	40241351	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actggcttaccacgtgcagtCatttctcagcgagcataaca	11	10	8	12	2	2	0	2	0	1	0	3	1	2	0	1	1	5	3	1	1	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:40241351C>G	ENST00000263791.5	+	4	438	c.395C>G	c.(394-396)tCa>tGa	p.S132*	EIF2AK4_ENST00000382727.2_Nonsense_Mutation_p.S132*|EIF2AK4_ENST00000559624.1_Nonsense_Mutation_p.S132*	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	132	RWD.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CACGTGCAGTCATTTCTCAGC	0.478													21	320					0	0	0	0	G	40241351	C	G	40241351	4	3	74	1	0	0	0	0	0	1	0	0	5035	838	29	2	409	2	EIF2AK4	15	40241351	Nonsense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	14624519	40241351	62290041	129	14179											
MEGF11	84465	broad.mit.edu	37	chr15	66190400	66190400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatagctggagttatgacCgcaaccttcttggaccacac	11	10	9	11	1	1	1	0	1	1	0	1	4	1	3	3	2	2	3	3	2	4	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:66190400C>T	ENST00000409699.2	-	23	3179	c.3007G>A	c.(3007-3009)Ggt>Agt	p.G1003S	MEGF11_ENST00000395625.2_Missense_Mutation_p.G928S|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.G928S|MEGF11_ENST00000422354.1_Missense_Mutation_p.G1003S			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1003						basolateral plasma membrane|integral to membrane		p.G928S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GAGTTATGACCGCAACCTTCT	0.458													29	46					0	0	0	0	T	66190400	C	T	66190400	3	4	74	1	0	0	0	0	1	0	0	0	9530	652	23	1	131	1	MEGF11	15	66190400	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	25949049	66190400	36340992	130	14180											
HCN4	10021	broad.mit.edu	37	chr15	73622066	73622066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcctgccgcccgtagcCgatgcacagcatgtggctca	6	6	14	15	4	1	0	1	0	0	0	1	1	1	0	4	2	4	4	4	2	1	1	rs121908411		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:73622066C>T	ENST00000261917.3	-	4	2431	c.1438G>A	c.(1438-1440)Ggc>Agc	p.G480S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	480					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.G480S(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGCCCGTAGCCGATGCACAGC	0.622													34	35					0	0	0	0	T	73622066	C	T	73622066	3	4	74	1	0	0	0	0	1	0	0	0	7049	652	23	1	2193	1	HCN4	15	73622066	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	7431666	73622066	28909326	131	14181											
MAN2C1	4123	broad.mit.edu	37	chr15	75655014	75655014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagatgaactcagggttcCgctccatgagctgcagggcg	10	7	13	11	2	1	3	1	2	0	1	3	3	3	3	2	2	3	4	2	2	2	1	rs149884810		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:75655014C>T	ENST00000565683.1	-	7	877	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000267978.5_Missense_Mutation_p.R289Q|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R289Q	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	289					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCAGGGTTCCGCTCCATGAG	0.622													12	54					0	0	0	0	T	75655014	C	T	75655014	3	4	74	1	0	0	0	0	1	0	0	0	9287	652	23	1	2336	1	MAN2C1	15	75655014	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	2032948	75655014	26876378	132	14182											
NRG4	145957	broad.mit.edu	37	chr15	76254257	76254257	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttacttttagtttggaTgctggagcctgggagaaaaa	11	12	13	5	0	0	1	0	0	0	1	0	4	0	3	1	4	3	3	1	4	4	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:76254257T>A	ENST00000394907.3	-	4	344	c.163A>T	c.(163-165)Atc>Ttc	p.I55F	NRG4_ENST00000535975.1_Missense_Mutation_p.I55F	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	55						extracellular region|integral to membrane|plasma membrane	growth factor activity	p.I55F(1)		large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						TTAGTTTGGATGCTGGAGCCT	0.388													80	108					0	0	0	0	A	76254257	T	A	76254257	3	1	74	1	0	0	0	0	1	0	0	0	10721	1464	51	5	196	5	NRG4	15	76254257	Missense_Mutation	SNP	T	TCGA-CN-4741-01A-01D-1434-08	599243	76254257	26277135	133	14183											
MAN2A2	4122	broad.mit.edu	37	chr15	91454654	91454654	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactggaacaggagcgattCagcatggtgtccctgctggt	8	9	13	11	1	1	0	1	0	0	0	2	3	2	2	2	4	4	2	2	4	1	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:91454654C>T	ENST00000360468.3	+	13	2001	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	MAN2A2_ENST00000431652.2_Silent_p.F169F|MAN2A2_ENST00000559717.1_Silent_p.F661F	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	661					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.F661F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGGAGCGATTCAGCATGGTGT	0.627													36	102					0	0	0	0	T	91454654	C	T	91454654	2	4	74	1	0	0	0	0	0	0	0	1	9284	825	29	2		2	MAN2A2	15	91454654	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	15200397	91454654	11076738	134	14184											
DNASE1L2	1775	broad.mit.edu	37	chr16	2288404	2288404	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttccagtggaggtgaccctCaagttccaccgatgactcga	9	10	10	12	2	1	2	1	2	0	0	4	5	3	3	4	2	0	1	4	2	1	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:2288404C>T	ENST00000564065.1	+	6	1886	c.885C>T	c.(883-885)ctC>ctT	p.L295L	DNASE1L2_ENST00000320700.5_Silent_p.L295L|DNASE1L2_ENST00000567494.1_Silent_p.L295L|DNASE1L2_ENST00000382437.4_Silent_p.L274L			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	295					DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding			endometrium(1)|prostate(1)|skin(2)	4						AGGTGACCCTCAAGTTCCACC	0.637													5	153					0	0	0	0	T	2288404	C	T	2288404	2	4	74	1	0	0	0	0	0	0	0	1	4698	813	29	2		2	DNASE1L2	16	2288404	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08		2288404	88066349	135	14185											
ACSM2A	123876	broad.mit.edu	37	chr16	20489931	20489931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcaacgtcctgccccccGgcacagaaggagacattggc	10	4	13	14	2	0	2	0	0	0	2	1	3	1	2	4	4	2	2	4	4	2	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:20489931G>A	ENST00000573854.1	+	10	1327	c.1213G>A	c.(1213-1215)Ggc>Agc	p.G405S	ACSM2A_ENST00000417235.2_Missense_Mutation_p.G326S|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G405S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G405S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.G405S|ACSM2A_ENST00000536134.1_Missense_Mutation_p.G177S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	405					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCTGCCCCCCGGCACAGAAGG	0.512													30	81					0	0	0	0	A	20489931	G	A	20489931	3	1	74	1	0	0	0	0	1	0	0	0	183	1116	39	1	1247	1	ACSM2A	16	20489931	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	18201527	20489931	69864822	136	14186											
ACSM3	6296	broad.mit.edu	37	chr16	20808211	20808211	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccttgatgccaacaggtaGaatttattcaagagctgcca	12	10	8	11	0	1	3	1	1	0	2	1	3	1	3	4	1	4	2	4	1	5	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:20808211G>C	ENST00000289416.5	+	14	2153	c.1678G>C	c.(1678-1680)Gaa>Caa	p.E560Q	ERI2_ENST00000564349.1_3'UTR|ERI2_ENST00000569729.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.E552Q|ERI2_ENST00000357967.4_3'UTR|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	560					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						CCAACAGGTAGAATTTATTCA	0.323													3	91					0	0	0	0	C	20808211	G	C	20808211	3	2	74	1	0	0	0	0	1	0	0	0	185	943	33	2	1821	2	ACSM3	16	20808211	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	318280	20808211	69546542	137	14187											
POLR3E	55718	broad.mit.edu	37	chr16	22344979	22344979	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcataggactgctgtgtaagCtatggtggcatgtggtacct	8	13	13	7	0	1	0	1	0	0	0	1	1	1	1	1	4	3	5	1	4	4	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:22344979C>T	ENST00000299853.5	+	21	2252	c.2085C>T	c.(2083-2085)agC>agT	p.S695S	POLR3E_ENST00000418581.2_Silent_p.S659S|POLR3E_ENST00000359210.4_Silent_p.S653S|POLR3E_ENST00000564209.1_Silent_p.S674S	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	695					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	p.S695S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GCTGTGTAAGCTATGGTGGCA	0.433													33	58					0	0	0	0	T	22344979	C	T	22344979	2	4	74	1	0	0	0	0	0	0	0	1	12304	796	28	4		4	POLR3E	16	22344979	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	1536768	22344979	68009774	138	14188											
CLN3	1201	broad.mit.edu	37	chr16	28498849	28498849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcacaaatcccactgaCgagaacccgggggctgaggg	12	3	14	12	2	0	3	0	2	0	1	1	4	1	3	2	3	3	3	2	3	2	0			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:28498849C>T	ENST00000569430.1	-	8	1207	c.388G>A	c.(388-390)Gtc>Atc	p.V130I	CLN3_ENST00000568224.1_Missense_Mutation_p.V52I|CLN3_ENST00000565316.1_Missense_Mutation_p.V130I|CLN3_ENST00000535392.1_Missense_Mutation_p.V52I|CLN3_ENST00000357806.7_Missense_Mutation_p.R103H|CLN3_ENST00000395653.4_Missense_Mutation_p.V30I|CLN3_ENST00000357857.9_Missense_Mutation_p.V76I|CLN3_ENST00000355477.5_Missense_Mutation_p.V130I|CLN3_ENST00000359984.7_Missense_Mutation_p.V130I|CLN3_ENST00000357076.5_Missense_Mutation_p.V130I|CLN3_ENST00000354630.5_Missense_Mutation_p.V130I|CLN3_ENST00000333496.9_Missense_Mutation_p.V106I|CLN3_ENST00000360019.2_Missense_Mutation_p.V130I|CLN3_ENST00000567963.1_Missense_Mutation_p.V130I			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	130					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	p.V130I(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						ATCCCACTGACGAGAACCCGG	0.587													18	31					0	0	0	0	T	28498849	C	T	28498849	3	4	74	1	0	0	0	0	1	0	0	0	3573	536	19	1	968	1	CLN3	16	28498849	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	6153870	28498849	61855904	139	14189											
CDH5	1003	broad.mit.edu	37	chr16	66430060	66430060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actggacagagaagtctaccCctggtataacctgactgtgg	11	9	11	10	0	1	2	0	1	1	1	1	4	1	3	3	3	2	1	3	3	4	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:66430060C>T	ENST00000341529.3	+	8	1464	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	439	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GAAGTCTACCCCTGGTATAAC	0.498													39	78					0	0	0	0	T	66430060	C	T	66430060	3	4	74	1	0	0	0	0	1	0	0	0	3142	623	22	4	1342	4	CDH5	16	66430060	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	37931211	66430060	23924693	140	14190											
NFATC3	4775	broad.mit.edu	37	chr16	68224779	68224779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctctgattcagggtgttCacatgacagtgtactgtcag	8	14	10	9	0	4	2	3	2	1	0	5	2	5	2	1	1	1	2	1	1	1	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:68224779C>T	ENST00000349223.5	+	9	2431	c.2207C>T	c.(2206-2208)tCa>tTa	p.S736L	NFATC3_ENST00000575270.1_Missense_Mutation_p.S736L|NFATC3_ENST00000346183.3_Missense_Mutation_p.S736L|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.S736L	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	736					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCAGGGTGTTCACATGACAGT	0.478													9	137					0	0	0	0	T	68224779	C	T	68224779	3	4	74	1	0	0	0	0	1	0	0	0	10434	838	29	2	2241	2	NFATC3	16	68224779	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	1794719	68224779	22129974	141	14191											
NQO1	1728	broad.mit.edu	37	chr16	69745185	69745186	+	Splice_Site	INS	-	-	T																															agaaatgcagaatgccactcINStgaggatacagaaagcacag																										TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:69745185_69745186insT	ENST00000320623.5	-	6	1031		c.e6-1		NQO1_ENST00000564043.1_Splice_Site|NQO1_ENST00000439109.2_Splice_Site|NQO1_ENST00000379046.2_Splice_Site|NQO1_ENST00000379047.3_Splice_Site|NQO1_ENST00000561500.1_Splice_Site	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1						nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	GAATGCCACTCTGAGGATACAG	0.45													96	185	---	---	---	---					T	69745186	-	T	69745185	8	5	74	1	0	1	1	0	0	0	1	0	10682	927	32	0	309	0	NQO1	16	69745185	Splice_Site	INS	-	TCGA-CN-4741-01A-01D-1434-08	1520406	69745185	20609568	142	14192											
CHST6	4166	broad.mit.edu	37	chr16	75512968	75512968	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgagtgtggcggcctcGgcgatgcgtacgtggctacg	4	9	18	10	6	0	1	0	1	0	0	1	2	0	1	1	5	3	3	1	5	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:75512968G>A	ENST00000332272.4	-	3	938	c.759C>T	c.(757-759)gcC>gcT	p.A253A	CHST6_ENST00000390664.2_Silent_p.A253A|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	253					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	p.A253A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGGCGGCCTCGGCGATGCGTA	0.716													22	33					0	0	0	0	A	75512968	G	A	75512968	2	1	74	1	0	0	0	0	0	0	0	1	3437	1103	39	1		1	CHST6	16	75512968	Silent	SNP	G	TCGA-CN-4741-01A-01D-1434-08	5767783	75512968	14841785	143	14193											
ADAMTS18	170692	broad.mit.edu	37	chr16	77465305	77465305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaagcaccatcttttcCaagtacctggacaataaagt	13	11	6	11	0	2	1	0	1	2	0	3	2	3	2	3	1	2	2	3	1	6	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:77465305C>G	ENST00000282849.5	-	3	800	c.382G>C	c.(382-384)Gga>Cga	p.G128R	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	128					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCATCTTTTCCAAGTACCTGG	0.473													4	205					0	0	0	0	G	77465305	C	G	77465305	3	3	74	1	0	0	0	0	1	0	0	0	263	603	21	4	3367	4	ADAMTS18	16	77465305	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	1952337	77465305	12889448	144	14194											
CLEC3A	10143	broad.mit.edu	37	chr16	78064472	78064472	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatccccaggaactccgacGaaatcaacgccctccaagac	13	6	6	16	3	1	1	1	0	0	1	4	4	4	2	5	1	2	0	5	1	5	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:78064472G>T	ENST00000299642.4	+	3	440	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Nonsense_Mutation_p.E110*|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	110	C-type lectin.				skeletal system development	extracellular region	sugar binding	p.E110*(1)|p.E110Q(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GAACTCCGACGAAATCAACGC	0.478													47	84					8.20599e-20	9.72836e-20	1	0	T	78064472	G	T	78064472	4	4	74	1	0	0	0	0	0	1	0	0	3540	1059	37	3	338	3	CLEC3A	16	78064472	Nonsense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	599167	78064472	12290281	145	14195											
PLD2	5338	broad.mit.edu	37	chr17	4713248	4713248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcatttgttcagctctttGaccctggctttgaggtgcaa	6	16	9	10	0	3	2	2	2	2	0	4	2	3	2	1	2	2	4	1	2	1	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:4713248G>A	ENST00000263088.6	+	9	915	c.784G>A	c.(784-786)Gac>Aac	p.D262N	PLD2_ENST00000572940.1_Missense_Mutation_p.D262N	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	262	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TCAGCTCTTTGACCCTGGCTT	0.592													5	148					0	0	0	0	A	4713248	G	A	4713248	3	1	74	1	0	0	0	0	1	0	0	0	12118	1290	45	2	814	2	PLD2	17	4713248	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08		4713248	76481962	146	14196											
NLRP1	22861	broad.mit.edu	37	chr17	5418344	5418344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctatcagctgctctcgataCtggtccacaaagtgcagcaa	11	9	9	12	1	2	0	1	0	1	0	4	1	3	0	1	1	5	5	1	1	4	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:5418344C>A	ENST00000345221.3	-	16	4574	c.4020G>T	c.(4018-4020)caG>caT	p.Q1340H	NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000354411.3_Missense_Mutation_p.Q1354H|NLRP1_ENST00000572272.1_Missense_Mutation_p.Q1384H|NLRP1_ENST00000577119.1_Missense_Mutation_p.Q1310H|NLRP1_ENST00000269280.4_Missense_Mutation_p.Q1340H	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1384					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.Q1384H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCTCTCGATACTGGTCCACAA	0.582													21	37					8.10497e-08	9.0748e-08	1	0	A	5418344	C	A	5418344	3	1	74	1	0	0	0	0	1	0	0	0	10541	564	20	4	336	4	NLRP1	17	5418344	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	705096	5418344	75776866	147	14197											
C17orf75	64149	broad.mit.edu	37	chr17	30668260	30668260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtttctgcatttgtgcCacttgggcttccgtcctcac	4	14	11	12	1	2	0	1	0	1	0	4	1	4	1	3	2	2	3	3	2	0	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:30668260C>T	ENST00000577809.1	-	2	233	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.G62S	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	62					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GCATTTGTGCCACTTGGGCTT	0.463													8	241					0	0	0	0	T	30668260	C	T	30668260	3	4	74	1	0	0	0	0	1	0	0	0	1896	594	21	4	1042	4	C17orf75	17	30668260	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	25249916	30668260	50526950	148	14198											
RFFL	117584	broad.mit.edu	37	chr17	33343399	33343399	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcccctcacccaggtgctgGagtcctttctgatccttgta	6	12	9	14	0	2	1	1	1	1	0	4	2	4	2	5	2	2	2	5	2	1	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:33343399G>C	ENST00000315249.7	-	5	1098	c.876C>G	c.(874-876)ctC>ctG	p.L292L	RFFL_ENST00000268850.7_Silent_p.L264L|RFFL_ENST00000394597.2_Silent_p.L292L|RFFL_ENST00000447669.2_Silent_p.L292L|RFFL_ENST00000415395.2_Silent_p.L292L|RFFL_ENST00000413582.2_Silent_p.L292L|RFFL_ENST00000378516.2_Silent_p.L292L|RAD51L3-RFFL_ENST00000593039.1_Silent_p.L209L|RFFL_ENST00000584655.1_Silent_p.L264L			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	292					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CCAGGTGCTGGAGTCCTTTCT	0.502													3	209					0	0	0	0	C	33343399	G	C	33343399	2	2	74	1	0	0	0	0	0	0	0	1	13332	1161	41	2		2	RFFL	17	33343399	Silent	SNP	G	TCGA-CN-4741-01A-01D-1434-08	2675139	33343399	47851811	149	14199											
RASL10B	91608	broad.mit.edu	37	chr17	34068186	34068186	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgcggctacgtggaatgCtcggccaagtacaactggca	11	7	13	10	3	0	0	0	0	0	0	1	1	0	1	1	4	5	4	1	4	6	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:34068186C>T	ENST00000268864.3	+	4	851	c.474C>T	c.(472-474)tgC>tgT	p.C158C		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	158	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.C158C(1)		breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACGTGGAATGCTCGGCCAAGT	0.647													22	45					0	0	0	0	T	34068186	C	T	34068186	2	4	74	1	0	0	0	0	0	0	0	1	13162	805	28	4		4	RASL10B	17	34068186	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	724787	34068186	47127024	150	14200											
NSF	4905	broad.mit.edu	37	chr17	44770362	44770362	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctggtagcacgggagttCatgacactgttgtcaaccag	9	10	13	9	1	2	1	2	1	0	0	2	2	2	2	1	3	2	5	1	3	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:44770362C>G	ENST00000398238.4	+	10	1146	c.1039C>G	c.(1039-1041)Cat>Gat	p.H347D	NSF_ENST00000225282.8_Missense_Mutation_p.H253D|NSF_ENST00000575068.1_Missense_Mutation_p.H342D	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	347					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		CACGGGAGTTCATGACACTGT	0.423													3	106					0	0	0	0	G	44770362	C	G	44770362	3	3	74	1	0	0	0	0	1	0	0	0	10742	826	29	2	1077	2	NSF	17	44770362	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	10702176	44770362	36424848	151	14201											
TRIM37	4591	broad.mit.edu	37	chr17	57165711	57165711	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttgaagagtatcaagctgTtgtgttacttcttctgccca	9	15	9	8	0	3	2	1	1	2	1	3	2	3	2	1	0	3	5	1	0	4	6			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:57165711T>C	ENST00000262294.7	-	4	481	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TRIM37_ENST00000584889.1_Silent_p.Q74Q|TRIM37_ENST00000393066.3_Silent_p.Q74Q|TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000393065.2_Silent_p.Q40Q	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	74						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	p.Q74Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TATCAAGCTGTTGTGTTACTT	0.383									Mulibrey Nanism				22	29					0	0	0	0	C	57165711	T	C	57165711	2	2	74	1	0	0	0	0	0	0	0	1	16606	1722	60	5		5	TRIM37	17	57165711	Silent	SNP	T	TCGA-CN-4741-01A-01D-1434-08	12395349	57165711	24029499	152	14202											
GNA13	10672	broad.mit.edu	37	chr17	63010430	63010430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatagtatccttcacgtcaCggaaaacaaggcggatgttc	13	9	10	9	3	2	0	2	0	0	0	4	3	3	2	1	3	1	2	1	3	6	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:63010430C>A	ENST00000439174.2	-	4	1324	c.1079G>T	c.(1078-1080)cGt>cTt	p.R360L	GNA13_ENST00000541118.1_Missense_Mutation_p.R265L	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	360					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CTTCACGTCACGGAAAACAAG	0.443													3	97					0.004672	0.00499618	1	0	A	63010430	C	A	63010430	3	1	74	1	0	0	0	0	1	0	0	0	6552	536	19	3	58	3	GNA13	17	63010430	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	5844719	63010430	18184780	153	14203											
SSTR2	6752	broad.mit.edu	37	chr17	71166310	71166310	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttccgtctccatggccatCagccccaccccagcccttaa	7	9	5	20	1	3	0	1	0	2	0	5	0	4	0	8	1	2	0	8	1	1	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:71166310C>T	ENST00000357585.2	+	2	1221	c.852C>T	c.(850-852)atC>atT	p.I284I	SSTR2_ENST00000315332.2_Silent_p.I284I|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	284					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CCATGGCCATCAGCCCCACCC	0.507													5	199					0	0	0	0	T	71166310	C	T	71166310	2	4	74	1	0	0	0	0	0	0	0	1	15288	816	29	2		2	SSTR2	17	71166310	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	8155880	71166310	10028900	154	14204											
CDR2L	30850	broad.mit.edu	37	chr17	72999894	72999894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgctgagcaagtgcCggcagcacggggccggagtg	8	4	19	10	3	0	1	0	1	0	0	0	3	0	3	2	5	5	5	2	5	1	0			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:72999894C>T	ENST00000337231.5	+	5	1535	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	375												all_lung(278;0.226)					GAGCAAGTGCCGGCAGCACGG	0.711													3	0					0	0	0	0	T	72999894	C	T	72999894	3	4	74	1	0	0	0	0	1	0	0	0	3202	643	23	1	1141	1	CDR2L	17	72999894	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	1833584	72999894	8195316	155	14205											
DNAH17	8632	broad.mit.edu	37	chr17	76487582	76487582	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatggggtctatgtctccGtcaaggatgatccacttggg	8	11	12	10	1	3	1	1	1	2	0	5	2	4	2	2	4	0	0	2	4	2	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:76487582G>A	ENST00000389840.5	-	43	6694	c.6570C>T	c.(6568-6570)gaC>gaT	p.D2190D	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.D2199D					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTATGTCTCCGTCAAGGATGA	0.602													12	22					0	0	0	0	A	76487582	G	A	76487582	2	1	74	1	0	0	0	0	0	0	0	1	4638	1136	40	1		1	DNAH17	17	76487582	Silent	SNP	G	TCGA-CN-4741-01A-01D-1434-08	3487688	76487582	4707628	156	14206											
NOL4	8715	broad.mit.edu	37	chr18	31538327	31538327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgagaggtcctcagctcctCggtctacactctcatttttg	6	14	9	12	1	3	1	2	1	2	1	7	2	5	1	2	2	2	1	2	2	1	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:31538327C>T	ENST00000261592.5	-	7	1409	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	NOL4_ENST00000269185.4_Missense_Mutation_p.R257Q|NOL4_ENST00000538587.1_Missense_Mutation_p.R297Q|NOL4_ENST00000589544.1_Missense_Mutation_p.R371Q|NOL4_ENST00000535475.1_Missense_Mutation_p.R216Q|NOL4_ENST00000535384.1_Missense_Mutation_p.R86Q	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	371						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTCAGCTCCTCGGTCTACACT	0.453													11	351					0	0	0	0	T	31538327	C	T	31538327	3	4	74	1	0	0	0	0	1	0	0	0	10594	884	31	1	824	1	NOL4	18	31538327	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08		31538327	46538921	157	14207											
MBD1	4152	broad.mit.edu	37	chr18	47799971	47799971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaagctgcaacagggcccGgcacctgcacaggactgctt	9	6	13	13	1	0	0	0	0	0	0	0	2	0	2	2	4	5	5	2	4	2	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:47799971G>A	ENST00000591416.1	-	12	1840	c.1409C>T	c.(1408-1410)cCg>cTg	p.P470L	MBD1_ENST00000585595.1_Missense_Mutation_p.P495L|MBD1_ENST00000457839.2_Missense_Mutation_p.P495L|MBD1_ENST00000436910.1_Missense_Mutation_p.P447L|MBD1_ENST00000424334.2_Missense_Mutation_p.P521L|MBD1_ENST00000398488.1_Missense_Mutation_p.P414L|MBD1_ENST00000398493.1_Missense_Mutation_p.P414L|MBD1_ENST00000398495.2_Missense_Mutation_p.P439L|MBD1_ENST00000382948.5_Missense_Mutation_p.P470L|MBD1_ENST00000353909.3_Missense_Mutation_p.P421L|MBD1_ENST00000349085.2_Missense_Mutation_p.P414L|MBD1_ENST00000347968.3_Missense_Mutation_p.P414L|MBD1_ENST00000269468.5_Missense_Mutation_p.P470L|MBD1_ENST00000269471.5_Missense_Mutation_p.P447L|MBD1_ENST00000588937.1_Missense_Mutation_p.P447L|MBD1_ENST00000587605.1_Missense_Mutation_p.P414L|MBD1_ENST00000591535.1_Missense_Mutation_p.P447L|MBD1_ENST00000339998.6_Missense_Mutation_p.P470L|MBD1_ENST00000590208.1_Missense_Mutation_p.P470L|MBD1_ENST00000585672.1_Missense_Mutation_p.P420L			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	470					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.P470L(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AACAGGGCCCGGCACCTGCAC	0.637													28	32					0	0	0	0	A	47799971	G	A	47799971	3	1	74	1	0	0	0	0	1	0	0	0	9411	1116	39	1	622	1	MBD1	18	47799971	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	16261644	47799971	30277277	158	14208											
CXXC1	30827	broad.mit.edu	37	chr18	47812188	47812188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggggcccccgaacttcttCatgtcccgacagaaatcaca	10	9	8	14	2	3	1	2	0	1	1	4	3	4	1	3	2	1	0	3	2	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:47812188C>T	ENST00000285106.6	-	5	1284	c.570G>A	c.(568-570)atG>atA	p.M190I	CXXC1_ENST00000412036.2_Missense_Mutation_p.M190I|CXXC1_ENST00000589940.1_Missense_Mutation_p.M190I	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	190					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	p.M190I(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CGAACTTCTTCATGTCCCGAC	0.622													61	104					0	0	0	0	T	47812188	C	T	47812188	3	4	74	1	0	0	0	0	1	0	0	0	4129	826	29	2	1456	2	CXXC1	18	47812188	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	12217	47812188	30265060	159	14209											
SALL3	27164	broad.mit.edu	37	chr18	76754440	76754440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgaaggacgcggccaccGacccggccaagccactcctg	9	3	12	17	4	0	1	0	1	0	0	1	3	1	2	6	3	2	1	6	3	2	0			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:76754440G>A	ENST00000536229.3	+	1	2759	c.2050G>A	c.(2050-2052)Gac>Aac	p.D684N	SALL3_ENST00000575389.2_Missense_Mutation_p.D817N|SALL3_ENST00000537592.2_Missense_Mutation_p.D817N			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D817N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGCGGCCACCGACCCGGCCAA	0.642													14	12					0	0	0	0	A	76754440	G	A	76754440	3	1	74	1	0	0	0	0	1	0	0	0	13897	1058	37	1	2455	1	SALL3	18	76754440	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	28942252	76754440	1322808	160	14210											
DOT1L	84444	broad.mit.edu	37	chr19	2213555	2213555	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggagaagaacgcccagctCctgggtgcggctcagcagct	9	5	14	13	2	1	2	1	0	0	2	2	3	2	2	2	3	5	4	2	3	2	0			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:2213555C>T	ENST00000398665.3	+	17	1611	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	525						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.L525L(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		ACGCCCAGCTCCTGGGTGCGG	0.617													24	21					0	0	0	0	T	2213555	C	T	2213555	2	4	74	1	0	0	0	0	0	0	0	1	4745	842	30	2		2	DOT1L	19	2213555	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08		2213555	56915428	161	14211											
ZNF136	7695	broad.mit.edu	37	chr19	12296616	12296616	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggactcggtggcttttgAggatgtagatgtgaacttca	9	13	13	6	1	2	3	2	2	0	1	3	5	2	5	0	4	1	2	0	4	2	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:12296616A>G	ENST00000343979.4	+	2	160	c.20A>G	c.(19-21)gAg>gGg	p.E7G	ZNF136_ENST00000398616.2_Intron	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	7	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GTGGCTTTTGAGGATGTAGAT	0.483													3	99					0	0	0	0	G	12296616	A	G	12296616	3	3	74	1	0	0	0	0	1	0	0	0	17821	304	11	5	26	5	ZNF136	19	12296616	Missense_Mutation	SNP	A	TCGA-CN-4741-01A-01D-1434-08	10083061	12296616	46832367	162	14212											
F2RL3	9002	broad.mit.edu	37	chr19	17001171	17001171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggccttcttcgtgcccagCaacctgctgctgctgctgca	4	11	11	15	1	1	0	0	0	1	0	2	0	1	0	3	1	8	6	3	1	1	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:17001171C>A	ENST00000248076.3	+	2	1227	c.897C>A	c.(895-897)agC>agA	p.S299R		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	299					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	p.S299R(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCGTGCCCAGCAACCTGCTGC	0.701													9	8					0.000274275	0.000296942	1	0	A	17001171	C	A	17001171	3	1	74	1	0	0	0	0	1	0	0	0	5384	709	25	4	903	4	F2RL3	19	17001171	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	4704555	17001171	42127812	163	14213											
MAP1S	55201	broad.mit.edu	37	chr19	17845129	17845129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggccatgcatacgtggtaCgcagagacgcacgcccggca	9	5	14	13	5	0	1	0	0	0	1	0	2	0	1	2	3	3	5	2	3	2	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:17845129C>T	ENST00000324096.4	+	7	3223	c.3072C>T	c.(3070-3072)taC>taT	p.Y1024Y	MAP1S_ENST00000544059.2_Silent_p.Y998Y|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	1024	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	p.Y1024Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ATACGTGGTACGCAGAGACGC	0.657													21	52					0	0	0	0	T	17845129	C	T	17845129	2	4	74	1	0	0	0	0	0	0	0	1	9303	547	19	1		1	MAP1S	19	17845129	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	843958	17845129	41283854	164	14214											
ZNF676	163223	broad.mit.edu	37	chr19	22363197	22363197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttctctccagcatgaattCtcttgtgttcagtaaggctt	7	17	8	9	0	3	1	1	1	2	0	6	1	4	1	1	1	1	5	1	1	2	6			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:22363197C>T	ENST00000397121.2	-	3	1639	c.1322G>A	c.(1321-1323)aGa>aAa	p.R441K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R441T(1)|p.R441K(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGCATGAATTCTCTTGTGTTC	0.438													90	159					0	0	0	0	T	22363197	C	T	22363197	3	4	74	1	0	0	0	0	1	0	0	0	18178	913	32	2	448	2	ZNF676	19	22363197	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	4518068	22363197	36765786	165	14215											
ZFP14	57677	broad.mit.edu	37	chr19	36853022	36853022	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaataaccttacctagtgaaAtgaagttgctgtagttctcc	13	13	7	8	0	1	2	0	2	1	0	2	2	1	2	3	0	3	4	3	0	7	6			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:36853022A>T	ENST00000270001.7	-	3	243	c.128T>A	c.(127-129)aTt>aAt	p.I43N	ZFP14_ENST00000589280.1_Missense_Mutation_p.I43N	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I43N(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ACCTAGTGAAATGAAGTTGCT	0.378													48	73					0	0	0	0	T	36853022	A	T	36853022	3	4	74	1	0	0	0	0	1	0	0	0	17734	101	4	5	1485	5	ZFP14	19	36853022	Missense_Mutation	SNP	A	TCGA-CN-4741-01A-01D-1434-08	14489825	36853022	22275961	166	14216											
ZNF569	148266	broad.mit.edu	37	chr19	37903739	37903739	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttttccacatttattacaTtcatagggtttttcacctgt	8	19	5	9	0	2	0	2	0	0	0	3	0	3	0	2	1	1	2	2	1	3	9			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:37903739T>C	ENST00000316950.6	-	6	2378	c.1821A>G	c.(1819-1821)gaA>gaG	p.E607E	ZNF569_ENST00000392149.2_Silent_p.E607E|ZNF569_ENST00000392150.2_Silent_p.E448E	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E607E(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTATTACATTCATAGGGTT	0.413													83	149					0	0	0	0	C	37903739	T	C	37903739	2	2	74	1	0	0	0	0	0	0	0	1	18095	1490	52	5		5	ZNF569	19	37903739	Silent	SNP	T	TCGA-CN-4741-01A-01D-1434-08	1050717	37903739	21225244	167	14217											
LGALS4	3960	broad.mit.edu	37	chr19	39297125	39297125	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccggaggggctggcctccGatgaagttgattgattgaag	8	9	17	7	2	0	4	0	4	0	0	1	6	1	5	3	5	0	2	3	5	2	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:39297125G>A	ENST00000307751.4	-	4	927	c.450C>T	c.(448-450)atC>atT	p.I150I	LGALS4_ENST00000597803.1_5'UTR	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	150	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCTGGCCTCCGATGAAGTTGA	0.498													7	137					0	0	0	0	A	39297125	G	A	39297125	2	1	74	1	0	0	0	0	0	0	0	1	8798	1048	37	1		1	LGALS4	19	39297125	Silent	SNP	G	TCGA-CN-4741-01A-01D-1434-08	1393386	39297125	19831858	168	14218											
PSG7	5676	broad.mit.edu	37	chr19	43439678	43439678	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggatcagcagggatgcattgGaatatactgtttctcatcca	11	12	10	8	0	2	0	2	0	1	0	4	3	3	3	1	3	3	3	1	3	3	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:43439678G>C	ENST00000406070.2	-	0	404				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGATGCATTGGAATATACTGT	0.428													6	611					0	0	0	0	C	43439678	G	C	43439678	1	2	74	0	1	0	0	0	0	0	0	0	12739	1174	41	2		2	PSG7	19	43439678	RNA	SNP	G	TCGA-CN-4741-01A-01D-1434-08	4142553	43439678	15689305	169	14219											
QPCTL	54814	broad.mit.edu	37	chr19	46206184	46206184	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacccgtgctccatctcatCtccacgcccttccctgctgt	4	12	6	19	2	2	0	1	0	2	0	6	0	4	0	5	0	3	3	5	0	1	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:46206184C>T	ENST00000012049.5	+	7	1247	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	QPCTL_ENST00000366382.4_Silent_p.I248I	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	342					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		TCCATCTCATCTCCACGCCCT	0.597													30	226					0	0	0	0	T	46206184	C	T	46206184	2	4	74	1	0	0	0	0	0	0	0	1	12957	903	32	2		2	QPCTL	19	46206184	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	2766506	46206184	12922799	170	14220											
ZNF468	90333	broad.mit.edu	37	chr19	53344519	53344519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagtatagtatgttttGccagatatgaattatatgcg	12	16	10	3	1	0	3	0	2	0	1	0	3	0	3	1	0	2	3	1	0	8	8			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:53344519G>C	ENST00000595646.1	-	4	1148	c.1028C>G	c.(1027-1029)gCa>gGa	p.A343G	ZNF468_ENST00000396409.4_Missense_Mutation_p.A290G|ZNF468_ENST00000390651.4_Missense_Mutation_p.A290G|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AGTATGTTTTGCCAGATATGA	0.378													5	210					0	0	0	0	C	53344519	G	C	53344519	3	2	74	1	0	0	0	0	1	0	0	0	18023	1319	46	4	544	4	ZNF468	19	53344519	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	7138335	53344519	5784464	171	14221											
LILRA3	11026	broad.mit.edu	37	chr19	54803659	54803659	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatatagatggtactcctgCgtctccaggctcccctgaca	8	11	8	14	1	1	2	0	1	1	1	4	2	3	2	4	2	2	2	4	2	4	4	rs138979811	byFrequency	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:54803659C>T	ENST00000391745.1	-	7	532	c.216G>A	c.(214-216)acG>acA	p.T72T	LILRA3_ENST00000251390.3_Silent_p.T55T|LILRA3_ENST00000391744.3_Silent_p.T55T					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTACTCCTGCGTCTCCAGGC	0.567													11	97					0	0	0	0	T	54803659	C	T	54803659	2	4	74	1	0	0	0	0	0	0	0	1	8840	755	27	1		1	LILRA3	19	54803659	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	1459140	54803659	4325324	172	14222											
NLRP2	55655	broad.mit.edu	37	chr19	55494891	55494891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggagctcctcggctgtCtgtacgagtctcaggaggag	7	9	15	10	2	2	0	1	0	2	0	5	4	3	3	1	4	3	4	1	4	1	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:55494891C>T	ENST00000543010.1	+	6	1968	c.1825C>T	c.(1825-1827)Ctg>Ttg	p.L609L	NLRP2_ENST00000339757.7_Silent_p.L587L|NLRP2_ENST00000263437.6_Silent_p.L606L|NLRP2_ENST00000427260.2_Silent_p.L586L|NLRP2_ENST00000538819.1_Silent_p.L585L|NLRP2_ENST00000448584.2_Silent_p.L609L|NLRP2_ENST00000391721.4_Silent_p.L585L|NLRP2_ENST00000537859.1_Silent_p.L587L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	609					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCTCGGCTGTCTGTACGAGTC	0.507													3	33					0	0	0	0	T	55494891	C	T	55494891	2	4	74	1	0	0	0	0	0	0	0	1	10547	912	32	2		2	NLRP2	19	55494891	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	691232	55494891	3634092	173	14223											
ZNF471	57573	broad.mit.edu	37	chr19	57037187	57037187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggcttttagtgatagctCatcctgtgctcagcatcaaa	12	12	8	9	0	3	1	3	1	0	0	4	1	4	1	1	1	3	4	1	1	4	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:57037187C>T	ENST00000308031.5	+	5	1884	c.1751C>T	c.(1750-1752)tCa>tTa	p.S584L	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGTGATAGCTCATCCTGTGCT	0.413													16	105					0	0	0	0	T	57037187	C	T	57037187	3	4	74	1	0	0	0	0	1	0	0	0	18025	838	29	2	1765	2	ZNF471	19	57037187	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	1542296	57037187	2091796	174	14224											
ZSCAN4	201516	broad.mit.edu	37	chr19	58189827	58189827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtcctcccctgagtctGcccttacccaccagagcaat	9	8	7	17	0	1	2	0	1	1	1	3	2	3	2	6	0	4	2	6	0	2	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:58189827G>T	ENST00000318203.5	+	5	1553	c.856G>T	c.(856-858)Gcc>Tcc	p.A286S		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	286					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCTGAGTCTGCCCTTACCCA	0.483													6	145					0.00116845	0.00125464	1	0	T	58189827	G	T	58189827	3	4	74	1	0	0	0	0	1	0	0	0	18328	1319	46	4	866	4	ZSCAN4	19	58189827	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	1152640	58189827	939156	175	14225											
ZNF544	27300	broad.mit.edu	37	chr19	58772699	58772699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaaagaaaaacccttatGaatatattgtcagtggtgac	16	10	9	6	0	1	3	1	2	0	1	1	4	1	4	1	2	1	0	1	2	7	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:58772699G>A	ENST00000269829.4	+	7	1201	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	ZNF544_ENST00000596652.1_Missense_Mutation_p.E243K|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.E101K|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.E215K|ZNF544_ENST00000415203.2_Missense_Mutation_p.E215K|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.E215K|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	243					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)		AAACCCTTATGAATATATTGT	0.388													9	207					0	0	0	0	A	58772699	G	A	58772699	3	1	74	1	0	0	0	0	1	0	0	0	18072	1291	45	2	741	2	ZNF544	19	58772699	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	582872	58772699	356284	176	14226											
RALGAPB	57148	broad.mit.edu	37	chr20	37150172	37150172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctagcatggagtttcgaCggaaagggtcacaaatgtcc	13	8	12	8	2	1	0	1	0	0	0	3	3	2	2	1	3	2	3	1	3	4	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr20:37150172C>T	ENST00000262879.6	+	10	1734	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	RALGAPB_ENST00000397042.3_Missense_Mutation_p.R484W|RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R484W|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R262W			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	484					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GGAGTTTCGACGGAAAGGGTC	0.453													5	238					0	0	0	0	T	37150172	C	T	37150172	3	4	74	1	0	0	0	0	1	0	0	0	13097	527	19	1	1484	1	RALGAPB	20	37150172	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08		37150172	25875348	177	14227											
MYT1	4661	broad.mit.edu	37	chr20	62839236	62839236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcgtcgaagtcaccacCgagcgctcccaggacctgtg	8	6	13	14	4	1	0	1	0	0	0	4	4	2	1	4	2	1	1	4	2	1	0			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr20:62839236C>T	ENST00000536311.1	+	7	1051	c.687C>T	c.(685-687)acC>acT	p.T229T	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.T229T			Q01538	MYT1_HUMAN	myelin transcription factor 1	229	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T229T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGTCACCACCGAGCGCTCCC	0.622													11	77					0	0	0	0	T	62839236	C	T	62839236	2	4	74	1	0	0	0	0	0	0	0	1	10176	639	23	1		1	MYT1	20	62839236	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	25689064	62839236	186284	178	14228											
KRTAP12-4	386684	broad.mit.edu	37	chr21	46074247	46074247	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatagaccagggtggggcaGaagggctggcagcacccaga	11	4	16	10	0	0	3	0	0	0	3	0	3	0	3	2	5	1	4	2	5	3	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr21:46074247G>A	ENST00000391618.1	-	1	329	c.285C>T	c.(283-285)ttC>ttT	p.F95F	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	95	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						GGGTGGGGCAGAAGGGCTGGC	0.632													4	100					0	0	0	0	A	46074247	G	A	46074247	2	1	74	1	0	0	0	0	0	0	0	1	8573	933	33	2		2	KRTAP12-4	21	46074247	Silent	SNP	G	TCGA-CN-4741-01A-01D-1434-08		46074247	2055648	179	14229											
POFUT2	23275	broad.mit.edu	37	chr21	46702265	46702265	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggcctggggcactcaccGggctgatgtgtttctcagca	5	9	16	11	1	2	1	2	1	1	0	3	1	2	1	2	5	1	4	2	5	0	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr21:46702265G>A	ENST00000331343.7	-	4	663	c.638_splice	c.e4+1	p.R213_splice	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Splice_Site_p.R213_splice	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	213					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	p.R213W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GGCACTCACCGGGCTGATGTG	0.667													41	51					0	0	0	0	A	46702265	G	A	46702265	5	1	74	1	0	0	0	0	0	0	1	0	12256	1130	39	1	815	1	POFUT2	21	46702265	Splice_Site	SNP	G	TCGA-CN-4741-01A-01D-1434-08	628018	46702265	1427630	180	14230											
PCNT	5116	broad.mit.edu	37	chr21	47783638	47783638	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctgaaatgaggcagcttCaggaccaacaggcagcccag	14	4	12	11	0	1	2	1	2	0	0	1	3	1	3	2	3	4	4	2	3	3	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr21:47783638C>G	ENST00000359568.5	+	14	2505	c.2398C>G	c.(2398-2400)Cag>Gag	p.Q800E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	800					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAGGCAGCTTCAGGACCAACA	0.522													3	96					0	0	0	0	G	47783638	C	G	47783638	3	3	74	1	0	0	0	0	1	0	0	0	11661	827	29	2	2452	2	PCNT	21	47783638	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	1081373	47783638	346257	181	14231											
CECR1	51816	broad.mit.edu	37	chr22	17688100	17688100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttggggtgaaacagatgtGgcagtgaggcctgtaggtga	9	9	17	6	0	0	4	0	3	0	1	0	4	0	4	2	5	1	2	2	5	2	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr22:17688100G>A	ENST00000399839.1	-	3	673	c.403C>T	c.(403-405)Cac>Tac	p.H135Y	CECR1_ENST00000262607.3_Missense_Mutation_p.H135Y|CECR1_ENST00000399837.2_Missense_Mutation_p.H135Y|CECR1_ENST00000449907.2_Missense_Mutation_p.H93Y			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	135	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AAACAGATGTGGCAGTGAGGC	0.522													48	89					0	0	0	0	A	17688100	G	A	17688100	3	1	74	1	0	0	0	0	1	0	0	0	3234	1348	47	4	1198	4	CECR1	22	17688100	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08		17688100	33616466	182	14232											
SERPIND1	3053	broad.mit.edu	37	chr22	21138321	21138321	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaacttccggctgaatgaGagagaggtagttaaggtttc	12	10	12	7	1	0	3	0	2	0	2	2	5	1	3	1	3	1	4	1	3	4	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr22:21138321G>A	ENST00000215727.5	+	3	1234	c.951G>A	c.(949-951)gaG>gaA	p.E317E	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.E317E|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	317					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)	GGCTGAATGAGAGAGAGGTAG	0.502											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	270					0	0	0	0	A	21138321	G	A	21138321	2	1	74	1	0	0	0	0	0	0	0	1	14197	933	33	2		2	SERPIND1	22	21138321	Silent	SNP	G	TCGA-CN-4741-01A-01D-1434-08	3450221	21138321	30166245	183	14233											
SFI1	9814	broad.mit.edu	37	chr22	32007798	32007798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggcacagagactcagccGgacctgcttccgccagtgga	8	6	13	14	2	1	1	1	0	0	1	2	4	2	3	4	3	2	3	4	3	0	1			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr22:32007798G>A	ENST00000432498.1	+	23	2762	c.2369G>A	c.(2368-2370)cGg>cAg	p.R790Q	SFI1_ENST00000414585.1_Missense_Mutation_p.R668Q|SFI1_ENST00000400288.2_Missense_Mutation_p.R821Q|SFI1_ENST00000400289.1_Missense_Mutation_p.R739Q|SFI1_ENST00000443326.1_Missense_Mutation_p.R739Q|SFI1_ENST00000443011.1_Missense_Mutation_p.R668Q|SFI1_ENST00000540643.1_Missense_Mutation_p.R766Q	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	821					G2/M transition of mitotic cell cycle	centriole|cytosol		p.R821Q(1)		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						AGACTCAGCCGGACCTGCTTC	0.617													21	31					0	0	0	0	A	32007798	G	A	32007798	3	1	74	1	0	0	0	0	1	0	0	0	14243	1116	39	1	2552	1	SFI1	22	32007798	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	10869477	32007798	19296768	184	14234											
TRIOBP	11078	broad.mit.edu	37	chr22	38155475	38155475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacaaggccactgagctctGagaggttatgtgacttgccc	10	9	12	10	0	1	4	0	3	1	2	1	5	1	4	2	2	2	2	2	2	2	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr22:38155475G>A	ENST00000407319.2	+	8	1247	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	TRIOBP_ENST00000403663.2_Intron|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000406386.3_Intron	NM_138632.2	NP_619538.2	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	0					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					actgagctctgagaggttatg	0.572													5	178					0	0	0	0	A	38155475	G	A	38155475	3	1	74	1	0	0	0	0	1	0	0	0	16648	1291	45	2	6625	2	TRIOBP	22	38155475	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	6147677	38155475	13149091	185	14235											
PACSIN2	11252	broad.mit.edu	37	chr22	43275154	43275154	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctctccggctgagggttcGattcaggtctgcggaccact	5	11	12	13	3	3	1	1	1	2	0	6	3	4	2	2	4	1	2	2	4	0	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr22:43275154G>A	ENST00000263246.3	-	8	1129	c.928C>T	c.(928-930)Cga>Tga	p.R310*	PACSIN2_ENST00000402229.1_Nonsense_Mutation_p.R310*|PACSIN2_ENST00000407585.1_Nonsense_Mutation_p.R310*|PACSIN2_ENST00000403744.3_Nonsense_Mutation_p.R310*|PACSIN2_ENST00000337959.4_Nonsense_Mutation_p.R310*|PACSIN2_ENST00000496919.1_5'UTR	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	310					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CTGAGGGTTCGATTCAGGTCT	0.592													5	101					0	0	0	0	A	43275154	G	A	43275154	4	1	74	1	0	0	0	0	0	1	0	0	11446	1066	37	1	548	1	PACSIN2	22	43275154	Nonsense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	5119679	43275154	8029412	186	14236											
CSF2RA	1438	broad.mit.edu	37	chrX	1409269	1409269	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttattacatacaagaCtcaggaacccatgtgggatg	12	11	9	9	0	1	1	1	0	0	1	2	3	2	3	2	2	3	0	2	2	5	3			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:1409269C>T	ENST00000381524.3	+	7	699	c.513C>T	c.(511-513)gaC>gaT	p.D171D	CSF2RA_ENST00000381529.3_Silent_p.D171D|CSF2RA_ENST00000432318.2_Silent_p.D171D|CSF2RA_ENST00000417535.2_Silent_p.D171D|CSF2RA_ENST00000355432.3_Silent_p.D171D|CSF2RA_ENST00000355805.2_Silent_p.D171D|CSF2RA_ENST00000381500.1_Silent_p.D171D|CSF2RA_ENST00000501036.2_Silent_p.D38D|CSF2RA_ENST00000361536.3_Silent_p.D171D|CSF2RA_ENST00000381509.3_Silent_p.D171D			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	171						extracellular region|integral to plasma membrane	cytokine receptor activity	p.D171D(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACATACAAGACTCAGGAACCC	0.433													96	61					0	0	0	0	T	1409269	C	T	1409269	2	4	74	1	0	0	0	0	0	0	0	1	3966	564	20	4		4	CSF2RA	23	1409269	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08		1409269	153861291	187	14237											
YY2	404281	broad.mit.edu	37	chrX	21875244	21875244	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgattattccgagtacttGaaagggaagaaacttcctcc	12	11	8	10	1	0	3	0	2	0	1	3	5	3	4	4	1	2	1	4	1	5	5			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:21875244G>A	ENST00000429584.2	+	1	1140	c.642G>A	c.(640-642)ttG>ttA	p.L214L	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CCGAGTACTTGAAAGGGAAGA	0.483													9	192					0	0	0	0	A	21875244	G	A	21875244	2	1	74	1	0	0	0	0	0	0	0	1	17605	1281	45	2		2	YY2	23	21875244	Silent	SNP	G	TCGA-CN-4741-01A-01D-1434-08	20465975	21875244	133395316	188	14238											
ACRC	93953	broad.mit.edu	37	chrX	70823703	70823703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggatgttcccgacgacaaCagtgatgattcatccgacga	11	9	10	11	5	1	2	1	2	0	0	4	7	3	3	2	1	1	1	2	1	1	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:70823703C>T	ENST00000373695.1	+	7	1113	c.576C>T	c.(574-576)aaC>aaT	p.N192N	ACRC_ENST00000373696.3_Silent_p.N192N			Q96QF7	ACRC_HUMAN	acidic repeat containing	192	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCGACGACAACAGTGATGATT	0.498													6	245					0	0	0	0	T	70823703	C	T	70823703	2	4	74	1	0	0	0	0	0	0	0	1	171	477	17	4		4	ACRC	23	70823703	Silent	SNP	C	TCGA-CN-4741-01A-01D-1434-08	48948459	70823703	84446857	189	14239											
ZNF711	7552	broad.mit.edu	37	chrX	84502625	84502625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcacacgccagactctaGaatggcccataccatgatta	13	9	7	12	1	1	3	0	1	1	2	1	3	1	3	3	1	2	1	3	1	4	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:84502625G>T	ENST00000360700.4	+	3	933	c.47G>T	c.(46-48)aGa>aTa	p.R16I	ZNF711_ENST00000276123.3_Missense_Mutation_p.R16I|ZNF711_ENST00000395402.1_5'UTR|ZNF711_ENST00000373165.3_Missense_Mutation_p.R16I			Q9Y462	ZN711_HUMAN	zinc finger protein 711	16					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CCAGACTCTAGAATGGCCCAT	0.333													20	101					4.35082e-09	4.95615e-09	1	0	T	84502625	G	T	84502625	3	4	74	1	0	0	0	0	1	0	0	0	18211	942	33	2	49	2	ZNF711	23	84502625	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	13678922	84502625	70767935	190	14240											
IRS4	8471	broad.mit.edu	37	chrX	107978638	107978638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttgggcaaccacacagtCatcgacctgcatccagagct	10	9	9	13	1	1	1	1	0	0	1	3	2	2	1	3	1	3	4	3	1	1	2			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:107978638C>T	ENST00000372129.2	-	1	1013	c.937G>A	c.(937-939)Gac>Aac	p.D313N		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	313	IRS-type PTB.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ACCACACAGTCATCGACCTGC	0.547													6	169					0	0	0	0	T	107978638	C	T	107978638	3	4	74	1	0	0	0	0	1	0	0	0	7895	826	29	2	2840	2	IRS4	23	107978638	Missense_Mutation	SNP	C	TCGA-CN-4741-01A-01D-1434-08	23476013	107978638	47291922	191	14241											
HTATSF1	27336	broad.mit.edu	37	chrX	135581841	135581841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttctaccgcaaatgttgaaGatgtccatgctaggactgca	11	11	10	9	1	1	2	0	1	1	1	2	3	2	3	2	1	3	5	2	1	4	4			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:135581841G>C	ENST00000535601.1	+	3	693	c.271G>C	c.(271-273)Gat>Cat	p.D91H	HTATSF1_ENST00000218364.4_Missense_Mutation_p.D91H	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	91					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AAATGTTGAAGATGTCCATGC	0.443													9	117					0	0	0	0	C	135581841	G	C	135581841	3	2	74	1	0	0	0	0	1	0	0	0	7486	942	33	2	277	2	HTATSF1	23	135581841	Missense_Mutation	SNP	G	TCGA-CN-4741-01A-01D-1434-08	27603203	135581841	19688719	192	14242											
PRKCZ	5590	broad.mit.edu	37	chr1	2103541	2103541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcaacttcctgcacgagaGggggatcatctacagggacc	10	7	11	13	1	3	1	2	0	1	1	4	4	4	3	3	3	3	1	3	3	2	2	rs147033679		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:2103541G>A	ENST00000400921.2	+	9	1243	c.560G>A	c.(559-561)aGg>aAg	p.R187K	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.R187K	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	370					anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	p.R370K(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CTGCACGAGAGGGGGATCATC	0.627													9	81					0	0	0	0	A	2103541	G	A	2103541	3	1	75	1	0	0	0	0	1	0	0	0	12597	1000	35	4	1155	4	PRKCZ	1	2103541	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08		2103541	247147080	1	14243											
MAP3K6	9064	broad.mit.edu	37	chr1	27690423	27690423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcacctgcacatcgcggtaGgagagcagcaagttcatgat	11	7	12	11	3	1	2	1	1	0	1	2	3	1	2	1	2	3	6	1	2	2	2			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:27690423G>A	ENST00000374040.3	-	4	1085	c.825C>T	c.(823-825)tcC>tcT	p.S275S	MAP3K6_ENST00000357582.2_Silent_p.S283S|MAP3K6_ENST00000493901.1_Silent_p.S283S			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	283					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	p.S275S(1)		breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CATCGCGGTAGGAGAGCAGCA	0.607													4	32					0	0	0	0	A	27690423	G	A	27690423	2	1	75	1	0	0	0	0	0	0	0	1	9323	987	35	4		4	MAP3K6	1	27690423	Silent	SNP	G	TCGA-CN-4742-01A-02D-1512-08	25586882	27690423	221560198	2	14244											
SNRNP40	9410	broad.mit.edu	37	chr1	31754270	31754270	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatctgatcacttgtgtcaTtgaaggtcacagctaacacc	12	12	7	10	0	4	2	3	2	1	0	4	2	4	2	1	1	2	1	1	1	3	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:31754270T>A	ENST00000263694.4	-	5	623	c.605A>T	c.(604-606)aAt>aTt	p.N202I	SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Missense_Mutation_p.N202I	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	202						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	p.N202I(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						ACTTGTGTCATTGAAGGTCAC	0.393													22	66					0	0	0	0	A	31754270	T	A	31754270	3	1	75	1	0	0	0	0	1	0	0	0	14944	1493	52	5	492	5	SNRNP40	1	31754270	Missense_Mutation	SNP	T	TCGA-CN-4742-01A-02D-1512-08	4063847	31754270	217496351	3	14245											
OLFM3	118427	broad.mit.edu	37	chr1	102290781	102290781	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatcaaaggcaggagctcGtccattttctctttcaactc	9	12	9	11	1	3	0	2	0	1	0	7	2	4	2	1	3	2	2	1	3	2	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:102290781G>A	ENST00000370103.4	-	4	606	c.393C>T	c.(391-393)gaC>gaT	p.D131D	OLFM3_ENST00000359814.3_Silent_p.D151D|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Silent_p.D56D|OLFM3_ENST00000338858.5_Silent_p.D151D	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	151						extracellular region		p.D151D(1)|p.D131D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GCAGGAGCTCGTCCATTTTCT	0.408													4	37					0	0	0	0	A	102290781	G	A	102290781	2	1	75	1	0	0	0	0	0	0	0	1	10925	1136	40	1		1	OLFM3	1	102290781	Silent	SNP	G	TCGA-CN-4742-01A-02D-1512-08	70536511	102290781	146959840	4	14246											
CD53	963	broad.mit.edu	37	chr1	111434046	111434046	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acggcatgggcatgagtagcTtgaaactgctgaagtatgtc	11	10	13	7	1	0	3	0	3	0	0	1	3	0	3	0	2	3	6	0	2	4	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:111434046T>A	ENST00000271324.5	+	2	128	c.16T>A	c.(16-18)Ttg>Atg	p.L6M	CD53_ENST00000429072.2_Missense_Mutation_p.L6M	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	6					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CATGAGTAGCTTGAAACTGCT	0.438													6	125					0	0	0	0	A	111434046	T	A	111434046	3	1	75	1	0	0	0	0	1	0	0	0	3052	1606	56	5	18	5	CD53	1	111434046	Missense_Mutation	SNP	T	TCGA-CN-4742-01A-02D-1512-08	9143265	111434046	137816575	5	14247											
PDE4DIP	9659	broad.mit.edu	37	chr1	144855783	144855783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggtgcttggcagggccGctctccagaacatggtgagg	6	9	17	9	1	1	2	0	1	1	1	2	2	1	2	2	5	2	3	2	5	1	1			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:144855783G>A	ENST00000369359.4	-	44	7216	c.7178C>T	c.(7177-7179)gCg>gTg	p.A2393V	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2151V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2342V|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2257V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2257V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2257					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.A2257V(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGCAGGGCCGCTCTCCAGAA	0.572			T	PDGFRB	MPD								4	92					0	0	0	0	A	144855783	G	A	144855783	3	1	75	1	0	0	0	0	1	0	0	0	11714	1087	38	1	286	1	PDE4DIP	1	144855783	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08	33421737	144855783	104394838	6	14248											
HRNR	388697	broad.mit.edu	37	chr1	152192431	152192431	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccatacccatgtgggccAtagctggaagactgcctgga	10	7	13	11	0	0	1	0	0	0	1	0	4	0	3	4	3	4	1	4	3	3	2			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:152192431A>G	ENST00000368801.2	-	3	1749	c.1674T>C	c.(1672-1674)taT>taC	p.Y558Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	558					keratinization		calcium ion binding|protein binding	p.Y558Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTGGGCCATAGCTGGAAG	0.582													30	171					0	0	0	0	G	152192431	A	G	152192431	2	3	75	1	0	0	0	0	0	0	0	1	7409	224	8	5		5	HRNR	1	152192431	Silent	SNP	A	TCGA-CN-4742-01A-02D-1512-08	7336648	152192431	97058190	7	14249											
MNDA	4332	broad.mit.edu	37	chr1	158815770	158815770	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcatctggaacaatggtgTatgggttgtttatgttacaa	12	14	11	4	0	1	0	0	0	1	0	1	1	1	1	0	3	3	5	0	3	7	5			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:158815770T>G	ENST00000368141.4	+	5	1225	c.964T>G	c.(964-966)Tat>Gat	p.Y322D		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	322	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.Y322D(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AACAATGGTGTATGGGTTGTT	0.323													19	111					0	0	0	0	G	158815770	T	G	158815770	3	3	75	1	0	0	0	0	1	0	0	0	9746	1638	57	5	978	5	MNDA	1	158815770	Missense_Mutation	SNP	T	TCGA-CN-4742-01A-02D-1512-08	6623339	158815770	90434851	8	14250											
KLHDC8A	55220	broad.mit.edu	37	chr1	205306589	205306589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctggttgacacctcccaCggcgaggaggcagttcttga	8	8	12	13	2	1	2	0	2	1	0	2	4	2	3	3	4	0	3	3	4	0	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:205306589C>T	ENST00000367156.3	-	9	1807	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	KLHDC8A_ENST00000537168.1_Missense_Mutation_p.V218M|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.V197M|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.V331M|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.V331M	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	331								p.V331M(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACACCTCCCACGGCGAGGAGG	0.592													29	180					0	0	0	0	T	205306589	C	T	205306589	3	4	75	1	0	0	0	0	1	0	0	0	8414	536	19	1	65	1	KLHDC8A	1	205306589	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	46490819	205306589	43944032	9	14251											
XPO1	7514	broad.mit.edu	37	chr2	61719223	61719223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgttgttcaaaatttcatCaataaatggcatcacttctc	14	15	4	8	0	5	0	4	0	1	0	6	0	5	0	0	1	0	3	0	1	6	5			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:61719223C>T	ENST00000401558.2	-	16	2561	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N	XPO1_ENST00000406957.1_Missense_Mutation_p.D612N|XPO1_ENST00000404992.2_Missense_Mutation_p.D612N	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	612	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	p.D612N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AAAATTTCATCAATAAATGGC	0.363			Mis		CLL								14	87					0	0	0	0	T	61719223	C	T	61719223	3	4	75	1	0	0	0	0	1	0	0	0	17541	826	29	2	1421	2	XPO1	2	61719223	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08		61719223	181480150	10	14252											
ADD2	119	broad.mit.edu	37	chr2	70890768	70890768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaggatttcctctgccGtctgctcctcctccctcccg	2	13	8	18	2	2	1	0	1	2	0	7	2	7	2	6	1	3	2	6	1	0	1			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:70890768G>A	ENST00000264436.3	-	16	2414	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M	ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.T657M	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	657					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.T657M(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTCCTCTGCCGTCTGCTCCTC	0.572													15	154					0	0	0	0	A	70890768	G	A	70890768	3	1	75	1	0	0	0	0	1	0	0	0	305	1145	40	1	214	1	ADD2	2	70890768	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08	9171545	70890768	172308605	11	14253											
REV1	51455	broad.mit.edu	37	chr2	100022563	100022563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccagatccacagcagcccGaaatactacaaaaagaaaat	19	6	5	11	1	0	2	0	0	0	2	2	3	2	2	3	0	4	1	3	0	7	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:100022563G>A	ENST00000258428.3	-	17	2848	c.2620C>T	c.(2620-2622)Cgg>Tgg	p.R874W	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.R873W	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	874					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.R874W(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACAGCAGCCCGAAATACTACA	0.398								Direct reversal of damage					4	26					0	0	0	0	A	100022563	G	A	100022563	3	1	75	1	0	0	0	0	1	0	0	0	13321	1057	37	1	1163	1	REV1	2	100022563	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08	29131795	100022563	143176810	12	14254											
CCDC74B	91409	broad.mit.edu	37	chr2	130899886	130899886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggctctacccacactcCgttgatgcagacccagcgag	8	7	9	17	3	1	2	0	1	1	1	3	3	3	2	4	1	3	3	4	1	1	2			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:130899886C>T	ENST00000392984.3	-	2	1413	c.670G>A	c.(670-672)Gga>Aga	p.G224R	CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000310463.6_Missense_Mutation_p.G122R			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	122										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					ACCCACACTCCGTTGATGCAG	0.652													6	82					0	0	0	0	T	130899886	C	T	130899886	3	4	75	1	0	0	0	0	1	0	0	0	2875	661	23	1	802	1	CCDC74B	2	130899886	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	30877323	130899886	112299487	13	14255											
CCDC74A	90557	broad.mit.edu	37	chr2	132288220	132288220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctgggtctgcatcaacGgagtgtgggtagagccggga	7	8	17	9	3	2	1	1	0	1	1	3	3	2	3	1	4	3	3	1	4	2	1	rs148324548		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:132288220G>A	ENST00000467992.2	+	1	984	c.670G>A	c.(670-672)Gga>Aga	p.G224R	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000295171.6_Missense_Mutation_p.G122R			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	122										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTGCATCAACGGAGTGTGGGT	0.657													6	64					0	0	0	0	A	132288220	G	A	132288220	3	1	75	1	0	0	0	0	1	0	0	0	2874	1117	39	1	374	1	CCDC74A	2	132288220	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08	1388334	132288220	110911153	14	14256											
MBD5	55777	broad.mit.edu	37	chr2	149243425	149243425	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacagcagcaacttctccAggggtaccagaatctccagg	12	6	10	13	0	2	1	0	0	2	1	4	1	2	1	3	3	5	4	3	3	4	2			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:149243425A>C	ENST00000407073.1	+	11	3957	c.2960A>C	c.(2959-2961)cAg>cCg	p.Q987P	MBD5_ENST00000404807.1_Missense_Mutation_p.Q1220P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	987						chromosome|nucleus	chromatin binding|DNA binding	p.Q987P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAACTTCTCCAGGGGTACCAG	0.443													9	101					0	0	0	0	C	149243425	A	C	149243425	3	2	75	1	0	0	0	0	1	0	0	0	9416	188	7	5	2982	5	MBD5	2	149243425	Missense_Mutation	SNP	A	TCGA-CN-4742-01A-02D-1512-08	16955205	149243425	93955948	15	14257											
TANC1	85461	broad.mit.edu	37	chr2	160050872	160050872	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcaccttggccacgaggaAgttgtcactctgctcctgga	7	11	10	13	1	3	0	2	0	2	0	5	3	4	2	3	3	1	2	3	3	1	2			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:160050872A>T	ENST00000263635.6	+	17	3084	c.2847A>T	c.(2845-2847)gaA>gaT	p.E949D	TANC1_ENST00000454300.1_Missense_Mutation_p.E843D	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	949						cell junction|postsynaptic density|postsynaptic membrane	binding	p.E949D(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCCACGAGGAAGTTGTCACTC	0.557													27	83					0	0	0	0	T	160050872	A	T	160050872	3	4	75	1	0	0	0	0	1	0	0	0	15635	69	3	5	2905	5	TANC1	2	160050872	Missense_Mutation	SNP	A	TCGA-CN-4742-01A-02D-1512-08	10807447	160050872	83148501	16	14258											
XIRP2	129446	broad.mit.edu	37	chr2	168115300	168115300	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacactgcaaatgaatatgaAattgagaagttagaaaatac	20	9	8	4	0	0	4	0	3	0	2	0	6	0	4	0	0	2	2	0	0	9	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:168115300A>T	ENST00000409728.1	+	11	2432	c.2343A>T	c.(2341-2343)gaA>gaT	p.E781D	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.E748D|XIRP2_ENST00000409756.2_Missense_Mutation_p.E748D|XIRP2_ENST00000409605.1_Missense_Mutation_p.E526D|XIRP2_ENST00000420519.1_Missense_Mutation_p.E781D	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding	p.E781D(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGAATATGAAATTGAGAAGT	0.333													9	68					0	0	0	0	T	168115300	A	T	168115300	3	4	75	1	0	0	0	0	1	0	0	0	17526	11	1	5	11661	5	XIRP2	2	168115300	Missense_Mutation	SNP	A	TCGA-CN-4742-01A-02D-1512-08	8064428	168115300	75084073	17	14259											
HOXD13	3239	broad.mit.edu	37	chr2	176958146	176958146	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcaggcctggcgagcagCagcgtaccggccaacgaggt	8	5	16	12	4	1	0	1	0	0	0	1	2	1	0	3	4	5	3	3	4	2	1			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:176958146C>T	ENST00000392539.3	+	1	528	c.528C>T	c.(526-528)agC>agT	p.S176S		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	176					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TGGCGAGCAGCAGCGTACCGG	0.622			T	NUP98	AML*								4	85					0	0	0	0	T	176958146	C	T	176958146	2	4	75	1	0	0	0	0	0	0	0	1	7372	709	25	4		4	HOXD13	2	176958146	Silent	SNP	C	TCGA-CN-4742-01A-02D-1512-08	8842846	176958146	66241227	18	14260											
TTN	7273	broad.mit.edu	37	chr2	179497431	179497431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaacggaatgttttgggCtccctggatacttcacactc	9	11	9	12	1	1	0	1	0	0	0	3	2	2	2	2	3	3	2	2	3	3	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:179497431C>A	ENST00000589042.1	-	235	43526	c.43302G>T	c.(43300-43302)gaG>gaT	p.E14434D	TTN_ENST00000591111.1_Missense_Mutation_p.E12793D|TTN_ENST00000342175.6_Missense_Mutation_p.E5561D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5369D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5494D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11866D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12793	Fibronectin type-III 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E11866D(1)|p.E5561D(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)			ATGTTTTGGGCTCCCTGGATA	0.418													29	211					3.65163e-15	4.34876e-15	1	0	A	179497431	C	A	179497431	3	1	75	1	0	0	0	0	1	0	0	0	16831	796	28	4	64903	4	TTN	2	179497431	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	2539285	179497431	63701942	19	14261											
INPP5D	3635	broad.mit.edu	37	chr2	234078797	234078797	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttaactaccgtgtggAtctgcctacctgggtaaggg	8	11	13	9	1	2	0	0	0	2	0	2	2	2	2	3	4	4	1	3	4	4	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:234078797A>G	ENST00000359570.5	+	17	1742	c.1742A>G	c.(1741-1743)gAt>gGt	p.D581G	INPP5D_ENST00000538935.1_Missense_Mutation_p.D580G|INPP5D_ENST00000455936.2_Missense_Mutation_p.D345G|INPP5D_ENST00000450745.1_Missense_Mutation_p.D345G			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	593					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	p.D593G(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TACCGTGTGGATCTGCCTACC	0.607													8	36					0	0	0	0	G	234078797	A	G	234078797	3	3	75	1	0	0	0	0	1	0	0	0	7809	333	12	5	1344	5	INPP5D	2	234078797	Missense_Mutation	SNP	A	TCGA-CN-4742-01A-02D-1512-08	54581366	234078797	9120576	20	14262											
COL6A3	1293	broad.mit.edu	37	chr2	238253407	238253407	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accacatctcgcatccggccGaaagtgtcttggttgactcc	8	10	9	14	3	2	1	0	1	2	0	5	2	4	1	4	2	0	2	4	2	1	2			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:238253407G>A	ENST00000295550.4	-	36	7706	c.7254C>T	c.(7252-7254)ttC>ttT	p.F2418F	COL6A3_ENST00000472056.1_Silent_p.F1811F|COL6A3_ENST00000353578.4_Silent_p.F2212F|COL6A3_ENST00000409809.1_Silent_p.F2212F|COL6A3_ENST00000347401.3_Silent_p.F2217F|COL6A3_ENST00000346358.4_Silent_p.F2218F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2418	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.F2418F(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCATCCGGCCGAAAGTGTCTT	0.567													17	136					0	0	0	0	A	238253407	G	A	238253407	2	1	75	1	0	0	0	0	0	0	0	1	3731	1049	37	1		1	COL6A3	2	238253407	Silent	SNP	G	TCGA-CN-4742-01A-02D-1512-08	4174610	238253407	4945966	21	14263											
PARP3	10039	broad.mit.edu	37	chr3	51979165	51979165	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttttacaccgtcatcccGcacaacttcggccacagcca	10	8	5	18	3	1	0	1	0	0	0	3	0	2	0	4	1	3	1	4	1	2	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:51979165G>A	ENST00000417220.2	+	7	1274	c.786G>A	c.(784-786)ccG>ccA	p.P262P	PARP3_ENST00000398755.3_Silent_p.P269P|PARP3_ENST00000431474.1_Silent_p.P262P			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	262	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGTCATCCCGCACAACTTCG	0.637													4	126					0	0	0	0	A	51979165	G	A	51979165	2	1	75	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PARP3	3	51979165	Silent	SNP	G	TCGA-CN-4742-01A-02D-1512-08		51979165	146043265	22	14264											
PARP15	165631	broad.mit.edu	37	chr3	122354765	122354765	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagcacatgtacgttgtgCgagtacttactggagtcttc	10	12	11	8	2	1	0	0	0	1	0	2	3	1	1	0	1	5	4	0	1	4	5			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:122354765C>T	ENST00000483793.1	+	9	1310	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	PARP15_ENST00000493645.1_Nonsense_Mutation_p.R316*|PARP15_ENST00000464300.2_Nonsense_Mutation_p.R619*|PARP15_ENST00000310366.4_Nonsense_Mutation_p.R385*|PARP15_ENST00000465304.1_3'UTR			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	597	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GTACGTTGTGCGAGTACTTAC	0.478													4	146					0	0	0	0	T	122354765	C	T	122354765	4	4	75	1	0	0	0	0	0	1	0	0	11530	760	27	1	1970	1	PARP15	3	122354765	Nonsense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	70375600	122354765	75667665	23	14265											
ZBTB38	253461	broad.mit.edu	37	chr3	141164513	141164514	+	Frame_Shift_Del	DEL	CA	CA	-																															atactggagaaaagcgttacCactgtcagttctgctttcag																										TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:141164513_141164514delCA	ENST00000514251.1	+	4	3562_3563	c.3283_3284delCA	c.(3283-3285)cfs	p.H1095fs	ZBTB38_ENST00000321464.5_Frame_Shift_Del_p.H1096fs|ZBTB38_ENST00000441582.2_Frame_Shift_Del_p.H1095fs			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1095					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAAGCGTTACCACTGTCAGTTC	0.455													30	87	---	---	---	---					-	141164514	CA	-	141164513	7	5	75	1	0	1	0	1	0	0	0	0	17634	594	21	0	3285	0	ZBTB38	3	141164513	Frame_Shift_Del	DEL	CA	TCGA-CN-4742-01A-02D-1512-08	18809748	141164513	56857917	24	14266											
ZIC4	84107	broad.mit.edu	37	chr3	147108803	147108803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtccgacgagggcgacaCgagggcagacggtgtagccg	9	3	18	11	6	0	1	0	0	0	1	1	5	1	1	2	3	1	3	2	3	1	1			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:147108803C>T	ENST00000383075.3	-	4	1431	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	ZIC4_ENST00000425731.3_Missense_Mutation_p.V345M|ZIC4_ENST00000484399.1_Missense_Mutation_p.V307M|ZIC4_ENST00000473123.1_Missense_Mutation_p.V307M|ZIC4_ENST00000525172.2_Missense_Mutation_p.V357M|ZIC4_ENST00000491672.1_Missense_Mutation_p.V101M|ZIC4_ENST00000472749.2_5'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	307						nucleus	DNA binding|zinc ion binding	p.V307M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GAGGGCGACACGAGGGCAGAC	0.687													8	41					0	0	0	0	T	147108803	C	T	147108803	3	4	75	1	0	0	0	0	1	0	0	0	17776	536	19	1	93	1	ZIC4	3	147108803	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	5944290	147108803	50913627	25	14267											
BBS12	166379	broad.mit.edu	37	chr4	123664753	123664753	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcctgctcagggtggcTgcataatacttcctcttggc	6	12	10	13	0	2	0	1	0	1	0	3	0	3	0	3	3	4	3	3	3	2	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr4:123664753T>A	ENST00000542236.1	+	3	2087	c.1706T>A	c.(1705-1707)cTg>cAg	p.L569Q	BBS12_ENST00000314218.3_Missense_Mutation_p.L569Q	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	569					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TCAGGGTGGCTGCATAATACT	0.433									Bardet-Biedl syndrome				7	92					0	0	0	0	A	123664753	T	A	123664753	3	1	75	1	0	0	0	0	1	0	0	0	1341	1580	55	5	1708	5	BBS12	4	123664753	Missense_Mutation	SNP	T	TCGA-CN-4742-01A-02D-1512-08		123664753	67489523	26	14268											
NEIL3	55247	broad.mit.edu	37	chr4	178272610	178272610	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatggactccgtggctcggAagtcggaagagcactggacc	9	8	14	10	3	0	1	0	0	0	1	3	5	1	5	2	5	1	2	2	5	3	1			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr4:178272610A>T	ENST00000264596.3	+	7	1064	c.946A>T	c.(946-948)Aag>Tag	p.K316*	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	316					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	p.K316*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CGTGGCTCGGAAGTCGGAAGA	0.423								Base excision repair (BER), DNA glycosylases					18	153					0	0	0	0	T	178272610	A	T	178272610	4	4	75	1	0	0	0	0	0	1	0	0	10390	247	9	5	972	5	NEIL3	4	178272610	Nonsense_Mutation	SNP	A	TCGA-CN-4742-01A-02D-1512-08	54607857	178272610	12881666	27	14269											
PLCXD3	345557	broad.mit.edu	37	chr5	41381991	41381991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacagtgctagctttggggGtcagcaccacctgagatata	10	9	11	11	0	1	1	1	1	0	1	1	2	1	1	3	2	3	3	3	2	3	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:41381991G>T	ENST00000377801.3	-	2	823	c.749C>A	c.(748-750)aCc>aAc	p.T250N	PLCXD3_ENST00000328457.3_Missense_Mutation_p.T250N			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	250					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.T250N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGCTTTGGGGGTCAGCACCAC	0.468													14	110					4.36969e-10	5.02131e-10	1	0	T	41381991	G	T	41381991	3	4	75	1	0	0	0	0	1	0	0	0	12115	1261	44	4	224	4	PLCXD3	5	41381991	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08		41381991	139533269	28	14270											
SKP1	6500	broad.mit.edu	37	chr5	133502896	133502896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcattcacatttggtagagGaactgggtcatcatctcctt	9	14	9	9	0	4	1	3	0	1	1	5	2	4	2	1	3	2	2	1	3	2	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:133502896G>A	ENST00000353411.6	-	3	319	c.136C>T	c.(136-138)Cct>Tct	p.P46S	SKP1_ENST00000522855.1_Missense_Mutation_p.P46S|SKP1_ENST00000521216.1_Missense_Mutation_p.P46S|SKP1_ENST00000522552.1_Missense_Mutation_p.P46S|SKP1_ENST00000517625.1_Missense_Mutation_p.P46S	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	46					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.P46S(1)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGGTAGAGGAACTGGGTCA	0.313													27	75					0	0	0	0	A	133502896	G	A	133502896	3	1	75	1	0	0	0	0	1	0	0	0	14449	1174	41	2	398	2	SKP1	5	133502896	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08	92120905	133502896	47412364	29	14271											
LECT2	3950	broad.mit.edu	37	chr5	135288629	135288629	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggaagacttgccagcaCatatattagcccatggccct	11	10	8	12	0	0	1	0	0	0	1	0	2	0	2	3	2	3	1	3	2	4	5			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:135288629C>T	ENST00000512872.1	-	0	198				LECT2_ENST00000522943.1_Missense_Mutation_p.C25Y|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000514447.2_Missense_Mutation_p.C25Y|LECT2_ENST00000274507.1_Missense_Mutation_p.C25Y			O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2						chemotaxis|skeletal system development	cytoplasm|extracellular space		p.C25Y(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTGCCAGCACATATATTAGC	0.517													23	133					0	0	0	0	T	135288629	C	T	135288629	1	4	75	1	0	0	0	0	0	0	0	0	8766	478	17	4		4	LECT2	5	135288629	Translation_Start_Site	SNP	C	TCGA-CN-4742-01A-02D-1512-08	1785733	135288629	45626631	30	14272											
RBM27	54439	broad.mit.edu	37	chr5	145641354	145641354	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctccttcaacagtgcaCggaggtatccagaaggtaat	11	10	10	10	1	2	1	1	0	1	1	4	2	4	2	2	3	3	4	2	3	4	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:145641354C>T	ENST00000265271.5	+	13	2341	c.2175C>T	c.(2173-2175)caC>caT	p.H725H	RBM27_ENST00000506502.1_Silent_p.H670H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	725					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.H725H(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAACAGTGCACGGAGGTATCC	0.478													21	53					0	0	0	0	T	145641354	C	T	145641354	2	4	75	1	0	0	0	0	0	0	0	1	13209	535	19	1		1	RBM27	5	145641354	Silent	SNP	C	TCGA-CN-4742-01A-02D-1512-08	10352725	145641354	35273906	31	14273											
GABRB2	2561	broad.mit.edu	37	chr5	160763740	160763740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgcattatcatcgccaCgccagtaaaactcaatgtca	13	11	5	12	2	3	0	3	0	0	0	4	0	3	0	2	0	3	2	2	0	5	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:160763740C>T	ENST00000274547.2	-	7	795	c.578G>A	c.(577-579)cGt>cAt	p.R193H	GABRB2_ENST00000517901.1_Missense_Mutation_p.R130H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R193H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R193H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R193H|GABRB2_ENST00000517547.1_Missense_Mutation_p.R33H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	193					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	p.R193L(2)|p.R193H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATCATCGCCACGCCAGTAAAA	0.353													15	82					0	0	0	0	T	160763740	C	T	160763740	3	4	75	1	0	0	0	0	1	0	0	0	6215	536	19	1	980	1	GABRB2	5	160763740	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	15122386	160763740	20151520	32	14274											
ZNF184	7738	broad.mit.edu	37	chr6	27419915	27419915	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccacattcattgcattTgtaaggtttttctccagtat	8	19	5	9	0	2	0	1	0	1	0	4	0	3	0	2	1	1	4	2	1	2	8			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:27419915T>C	ENST00000211936.6	-	6	1707	c.1423A>G	c.(1423-1425)Aaa>Gaa	p.K475E	ZNF184_ENST00000377419.1_Missense_Mutation_p.K475E	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K475E(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCATTGCATTTGTAAGGTTTT	0.418													5	80					0	0	0	0	C	27419915	T	C	27419915	3	2	75	1	0	0	0	0	1	0	0	0	17846	1821	63	5	836	5	ZNF184	6	27419915	Missense_Mutation	SNP	T	TCGA-CN-4742-01A-02D-1512-08		27419915	143695152	33	14275											
OR12D3	81797	broad.mit.edu	37	chr6	29342553	29342553	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtagaagaagtgattgagtTtctgagagccacaaaaactc	15	9	10	7	1	1	5	0	3	1	3	2	6	1	5	1	0	2	2	1	0	5	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:29342553T>G	ENST00000396806.3	-	1	515	c.512A>C	c.(511-513)aAa>aCa	p.K171T	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K171T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GTGATTGAGTTTCTGAGAGCC	0.463													11	61					0	0	0	0	G	29342553	T	G	29342553	3	3	75	1	0	0	0	0	1	0	0	0	11003	1841	64	5	442	5	OR12D3	6	29342553	Missense_Mutation	SNP	T	TCGA-CN-4742-01A-02D-1512-08	1922638	29342553	141772514	34	14276											
SYNCRIP	10492	broad.mit.edu	37	chr6	86328627	86328627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatttcaatattttctccctCcaagtctttgccattcattt	9	19	2	11	0	4	0	2	0	2	0	6	0	5	0	3	0	1	0	3	0	4	7			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:86328627C>T	ENST00000355238.6	-	10	1395	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.E397K	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	397	RRM 3.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	p.E397K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TTTTCTCCCTCCAAGTCTTTG	0.318													4	51					0	0	0	0	T	86328627	C	T	86328627	3	4	75	1	0	0	0	0	1	0	0	0	15535	864	30	2	736	2	SYNCRIP	6	86328627	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	56986074	86328627	84786440	35	14277											
GPRC6A	222545	broad.mit.edu	37	chr6	117130586	117130586	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtagctggaatagtcacacTtaaactccacagtttctctg	11	13	7	10	0	2	0	1	0	1	0	4	1	3	1	1	1	2	3	1	1	5	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:117130586T>G	ENST00000310357.3	-	2	410	c.389A>C	c.(388-390)aAg>aCg	p.K130T	GPRC6A_ENST00000530250.1_Missense_Mutation_p.K130T|GPRC6A_ENST00000368549.3_Missense_Mutation_p.K130T	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	130					response to amino acid stimulus		G-protein coupled receptor activity	p.K130T(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATAGTCACACTTAAACTCCAC	0.423													17	81					0	0	0	0	G	117130586	T	G	117130586	3	3	75	1	0	0	0	0	1	0	0	0	6778	1609	56	5	2411	5	GPRC6A	6	117130586	Missense_Mutation	SNP	T	TCGA-CN-4742-01A-02D-1512-08	30801959	117130586	53984481	36	14278											
TNFAIP3	7128	broad.mit.edu	37	chr6	138200423	138200423	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaaaagccggctgcgtgtAttttgggactccagaaaaca	13	8	11	9	2	0	2	0	0	0	2	1	3	1	3	2	2	3	2	2	2	5	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:138200423A>G	ENST00000237289.4	+	7	1907	c.1841A>G	c.(1840-1842)tAt>tGt	p.Y614C		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	614	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.Y614C(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGCTGCGTGTATTTTGGGACT	0.542			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								15	95					0	0	0	0	G	138200423	A	G	138200423	3	3	75	1	0	0	0	0	1	0	0	0	16368	449	16	5	1863	5	TNFAIP3	6	138200423	Missense_Mutation	SNP	A	TCGA-CN-4742-01A-02D-1512-08	21069837	138200423	32914644	37	14279											
RADIL	55698	broad.mit.edu	37	chr7	4856927	4856927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccacctcctccagcacCgccatggcctcctcgctggc	6	6	8	21	2	0	0	0	0	0	0	4	0	3	0	8	2	2	3	8	2	0	0			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:4856927C>T	ENST00000536091.1	-	6	1642	c.1510G>A	c.(1510-1512)Ggt>Agt	p.G504S	RADIL_ENST00000399583.3_Silent_p.A557A|RADIL_ENST00000538469.1_Silent_p.A317A			Q96JH8	RADIL_HUMAN	Ras association and DIL domains	889	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding	p.A557A(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCTCCAGCACCGCCATGGCCT	0.642													21	44					0	0	0	0	T	4856927	C	T	4856927	3	4	75	1	0	0	0	0	1	0	0	0	13079	639	23	1	1592	1	RADIL	7	4856927	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08		4856927	154281736	38	14280											
THSD7A	221981	broad.mit.edu	37	chr7	11630169	11630169	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctctcgggtctggatgccCcctccacagagggccgtctg	5	8	12	16	2	3	1	0	0	3	1	5	2	4	2	5	3	1	0	5	3	0	0			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:11630169C>T	ENST00000423059.3	-	4	1622	c.1371G>A	c.(1369-1371)ggG>ggA	p.G457G		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	457	TSP type-1 4.					integral to membrane		p.G457G(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGGATGCCCCCTCCACAGA	0.552										HNSCC(18;0.044)			10	48					0	0	0	0	T	11630169	C	T	11630169	2	4	75	1	0	0	0	0	0	0	0	1	15973	610	22	4		4	THSD7A	7	11630169	Silent	SNP	C	TCGA-CN-4742-01A-02D-1512-08	6773242	11630169	147508494	39	14281											
EGFR	1956	broad.mit.edu	37	chr7	55227956	55227956	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgtgctatgcaaatacaAtaaactggaaaaaactgttt	17	13	6	5	0	0	0	0	0	0	0	0	1	0	1	0	1	5	3	0	1	9	5			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:55227956A>G	ENST00000275493.2	+	12	1600	c.1423A>G	c.(1423-1425)Ata>Gta	p.I475V	EGFR_ENST00000454757.2_Missense_Mutation_p.I422V|EGFR_ENST00000342916.3_Missense_Mutation_p.I475V|EGFR_ENST00000442591.1_Missense_Mutation_p.I475V|EGFR_ENST00000455089.1_Missense_Mutation_p.I430V|EGFR_ENST00000344576.2_Missense_Mutation_p.I475V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	475					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.I475V(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCAAATACAATAAACTGGAA	0.393		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			21	46					0	0	0	0	G	55227956	A	G	55227956	3	3	75	1	0	0	0	0	1	0	0	0	5003	101	4	5	1480	5	EGFR	7	55227956	Missense_Mutation	SNP	A	TCGA-CN-4742-01A-02D-1512-08	43597787	55227956	103910707	40	14282											
PPP1R3A	5506	broad.mit.edu	37	chr7	113520174	113520174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggttcttattaagtgttGatttatcttatgggataaaa	11	19	8	3	0	3	1	0	1	3	0	3	2	3	2	0	2	0	2	0	2	6	8			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:113520174G>T	ENST00000284601.3	-	4	1041	c.973C>A	c.(973-975)Caa>Aaa	p.Q325K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	325					glycogen metabolic process	integral to membrane		p.Q325K(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTAAGTGTTGATTTATCTTA	0.299													9	78					0.000274275	0.000292114	1	0	T	113520174	G	T	113520174	3	4	75	1	0	0	0	0	1	0	0	0	12447	1299	45	2	2399	2	PPP1R3A	7	113520174	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08	58292218	113520174	45618489	41	14283											
GRM8	2918	broad.mit.edu	37	chr7	126882877	126882877	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcacacttcacatccgaagCatctttctctattaatgcct	11	13	4	13	1	3	0	1	0	2	0	5	1	4	0	2	0	3	2	2	0	3	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:126882877C>A	ENST00000339582.2	-	2	1190	c.382G>T	c.(382-384)Gct>Tct	p.A128S	GRM8_ENST00000405249.1_Missense_Mutation_p.A128S|GRM8_ENST00000358373.3_Missense_Mutation_p.A128S|GRM8_ENST00000444921.2_Missense_Mutation_p.A128S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	128					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.A128P(2)|p.A128S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACATCCGAAGCATCTTTCTCT	0.502										HNSCC(24;0.065)			9	81					1.12685e-05	1.26169e-05	1	0	A	126882877	C	A	126882877	3	1	75	1	0	0	0	0	1	0	0	0	6853	710	25	4	2434	4	GRM8	7	126882877	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	13362703	126882877	32255786	42	14284											
EXOC4	60412	broad.mit.edu	37	chr7	133602486	133602486	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagaggaggaagaagatttCataaggtaaaaggtccattt	17	9	12	3	0	1	3	1	0	0	3	2	6	2	5	1	4	0	1	1	4	5	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:133602486C>G	ENST00000253861.4	+	13	2051	c.2022C>G	c.(2020-2022)ttC>ttG	p.F674L	EXOC4_ENST00000545148.1_Missense_Mutation_p.F284L|EXOC4_ENST00000539845.1_Missense_Mutation_p.F573L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	674					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAGAAGATTTCATAAGGTAAA	0.358													5	60					0	0	0	0	G	133602486	C	G	133602486	3	3	75	1	0	0	0	0	1	0	0	0	5343	825	29	2	2081	2	EXOC4	7	133602486	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	6719609	133602486	25536177	43	14285											
ZFAT	57623	broad.mit.edu	37	chr8	135649949	135649949	+	Frame_Shift_Del	DEL	A	A	-																															ctctcttcctcttcatgaccAaaaactctacagaggaaaca																										TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr8:135649949delA	ENST00000520727.1	-	4	466	c.167delT	c.(166-168)tgfs	p.L56fs	ZFAT_ENST00000520356.1_Frame_Shift_Del_p.L56fs|ZFAT_ENST00000523399.1_Frame_Shift_Del_p.L68fs|ZFAT_ENST00000520214.1_Frame_Shift_Del_p.L56fs|ZFAT_ENST00000377838.3_Frame_Shift_Del_p.L68fs|ZFAT_ENST00000429442.2_Frame_Shift_Del_p.L56fs	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTCATGACCAAAAACTCTAC	0.517													7	171	---	---	---	---					-	135649949	A	-	135649949	7	5	75	1	0	1	0	1	0	0	0	0	17727	131	5	0	3584	0	ZFAT	8	135649949	Frame_Shift_Del	DEL	A	TCGA-CN-4742-01A-02D-1512-08		135649949	10714073	44	14286											
NOTCH1	4851	broad.mit.edu	37	chr9	139412381	139412381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgcccgcatgctcgcaggGgttggcacctggcgagggca	5	7	16	13	3	0	0	0	0	0	0	1	1	0	0	2	5	2	6	2	5	0	2			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr9:139412381G>A	ENST00000277541.6	-	8	1339	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	422	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.P422S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCTCGCAGGGGTTGGCACCT	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			17	35					0	0	0	0	A	139412381	G	A	139412381	3	1	75	1	0	0	0	0	1	0	0	0	10617	1232	43	4	6511	4	NOTCH1	9	139412381	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08		139412381	1801050	45	14287											
RSU1	6251	broad.mit.edu	37	chr10	16794619	16794619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagctccccgatttccttagGcagcgagatcaggtcgttat	9	11	10	11	3	1	1	1	0	0	1	4	3	3	1	3	2	2	3	3	2	3	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr10:16794619G>T	ENST00000377921.3	-	6	818	c.517C>A	c.(517-519)Cct>Act	p.P173T	RSU1_ENST00000602389.1_Missense_Mutation_p.P120T|RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000345264.5_Missense_Mutation_p.P173T			Q15404	RSU1_HUMAN	Ras suppressor protein 1	173					cell junction assembly|signal transduction	cytosol	protein binding	p.P173T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ATTTCCTTAGGCAGCGAGATC	0.473													14	106					1.49906e-05	1.66421e-05	1	0	T	16794619	G	T	16794619	3	4	75	1	0	0	0	0	1	0	0	0	13801	1203	42	4	328	4	RSU1	10	16794619	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08		16794619	118740128	46	14288											
CUBN	8029	broad.mit.edu	37	chr10	17168789	17168789	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttggaattttctctcaaGatccaccagctggcaatagg	10	11	9	11	0	2	1	1	0	1	1	4	2	3	2	3	3	1	2	3	3	4	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr10:17168789G>C	ENST00000377833.4	-	4	423	c.358C>G	c.(358-360)Ctt>Gtt	p.L120V	CUBN_ENST00000377823.1_Missense_Mutation_p.L120V	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	120					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.L120V(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTCTCTCAAGATCCACCAGC	0.408													22	61					0	0	0	0	C	17168789	G	C	17168789	3	2	75	1	0	0	0	0	1	0	0	0	4083	942	33	2	10769	2	CUBN	10	17168789	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08	374170	17168789	118365958	47	14289											
FAM13C	220965	broad.mit.edu	37	chr10	61028362	61028362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaatttccgaattttcCgcttgaggctctggatgtgc	7	15	9	10	2	2	1	1	1	1	0	4	3	4	2	2	2	1	2	2	2	2	5			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr10:61028362C>A	ENST00000373867.3	-	9	1109	c.644G>T	c.(643-645)cGg>cTg	p.R215L	FAM13C_ENST00000277705.6_Missense_Mutation_p.R319L|FAM13C_ENST00000435852.2_Missense_Mutation_p.R298L|FAM13C_ENST00000422313.2_Missense_Mutation_p.R298L|FAM13C_ENST00000468840.2_Missense_Mutation_p.R215L|FAM13C_ENST00000442566.3_Missense_Mutation_p.R319L|FAM13C_ENST00000373868.2_Missense_Mutation_p.R298L|FAM13C_ENST00000419214.2_Missense_Mutation_p.R298L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	298								p.R298L(1)		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						CCGAATTTTCCGCTTGAGGCT	0.502													6	52					3.59834e-05	3.92818e-05	1	0	A	61028362	C	A	61028362	3	1	75	1	0	0	0	0	1	0	0	0	5495	652	23	3	892	3	FAM13C	10	61028362	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	43859573	61028362	74506385	48	14290											
MUC6	4588	broad.mit.edu	37	chr11	1018137	1018137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgtgggccacaggggttCtggtgcgtgtactagtgggg	4	11	20	6	1	1	0	0	0	1	0	1	0	1	0	1	7	2	2	1	7	2	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr11:1018137C>T	ENST00000421673.2	-	31	4714	c.4664G>A	c.(4663-4665)aGa>aAa	p.R1555K		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1555	Pro-rich.|Thr-rich.				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)		CACAGGGGTTCTGGTGCGTGT	0.572													40	276					0	0	0	0	T	1018137	C	T	1018137	3	4	75	1	0	0	0	0	1	0	0	0	10050	913	32	2	2667	2	MUC6	11	1018137	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08		1018137	133988379	49	14291											
LRRC4C	57689	broad.mit.edu	37	chr11	40137212	40137212	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggtgtgaggttagggatttCccgaaggttgcacatggcaa	9	10	15	7	2	0	1	0	1	0	0	1	3	1	2	1	5	1	4	1	5	3	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr11:40137212C>A	ENST00000278198.2	-	2	2594	c.631G>T	c.(631-633)Gaa>Taa	p.E211*	LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.E211*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.E211*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.E211*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	211					regulation of axonogenesis	integral to membrane	protein binding	p.E211*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTAGGGATTTCCCGAAGGTTG	0.453													31	98					8.88839e-20	1.07813e-19	1	0	A	40137212	C	A	40137212	4	1	75	1	0	0	0	0	0	1	0	0	9072	864	30	2	1295	2	LRRC4C	11	40137212	Nonsense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	39119075	40137212	94869304	50	14292											
ZBTB16	7704	broad.mit.edu	37	chr11	114121202	114121202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctccatgcagaagcacatGaagggccacaagcccgagga	13	4	11	13	1	0	2	0	1	0	1	2	4	2	3	4	2	3	2	4	2	3	0			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr11:114121202G>A	ENST00000335953.4	+	7	2327	c.1947G>A	c.(1945-1947)atG>atA	p.M649I	ZBTB16_ENST00000392996.2_Missense_Mutation_p.M649I|ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	649					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	p.M649I(2)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGAAGCACATGAAGGGCCACA	0.617													8	90					0	0	0	0	A	114121202	G	A	114121202	3	1	75	1	0	0	0	0	1	0	0	0	17621	1290	45	2	1969	2	ZBTB16	11	114121202	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08	73983990	114121202	20885314	51	14293											
CD163L1	283316	broad.mit.edu	37	chr12	7586143	7586143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggcgaaagaaaatggaCatccaagctgtttgcacacg	15	7	10	9	2	0	1	0	0	0	1	1	3	1	2	1	2	2	3	1	2	4	1			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:7586143C>T	ENST00000313599.3	-	3	329	c.272G>A	c.(271-273)tGt>tAt	p.C91Y	CD163L1_ENST00000416109.2_Missense_Mutation_p.C91Y|CD163L1_ENST00000396630.1_Missense_Mutation_p.C91Y			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	91	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAAAATGGACATCCAAGCTG	0.473													14	89					0	0	0	0	T	7586143	C	T	7586143	3	4	75	1	0	0	0	0	1	0	0	0	2997	478	17	4	4157	4	CD163L1	12	7586143	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08		7586143	126265752	52	14294											
RAB5B	5869	broad.mit.edu	37	chr12	56380870	56380870	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggtattacgttttgtcaaAgggcagttccatgagtacca	10	13	10	8	1	1	1	1	1	0	0	2	1	2	1	2	2	2	5	2	2	4	6			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:56380870A>G	ENST00000360299.5	+	2	347	c.126A>G	c.(124-126)aaA>aaG	p.K42K	RAB5B_ENST00000448789.2_Silent_p.K42K|RAB5B_ENST00000553116.1_Silent_p.K42K	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	42					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	p.K42K(1)		endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GTTTTGTCAAAGGGCAGTTCC	0.463													20	30					0	0	0	0	G	56380870	A	G	56380870	2	3	75	1	0	0	0	0	0	0	0	1	13031	69	3	5		5	RAB5B	12	56380870	Silent	SNP	A	TCGA-CN-4742-01A-02D-1512-08	48794727	56380870	77471025	53	14295											
NAV3	89795	broad.mit.edu	37	chr12	78598823	78598823	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccagccttacttcagctgCgaccagaagatgttgggtat	9	10	11	11	1	1	2	1	0	0	2	1	3	1	2	3	1	4	3	3	1	3	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:78598823C>T	ENST00000397909.2	+	39	7116	c.6943C>T	c.(6943-6945)Cga>Tga	p.R2315*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.R2116*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.R2293*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.R2293*|NAV3_ENST00000541270.1_Nonsense_Mutation_p.R145*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2315						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R2293*(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTTCAGCTGCGACCAGAAGA	0.512										HNSCC(70;0.22)			10	34					0	0	0	0	T	78598823	C	T	78598823	4	4	75	1	0	0	0	0	0	1	0	0	10255	760	27	1	7027	1	NAV3	12	78598823	Nonsense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	22217953	78598823	55253072	54	14296											
CCDC38	120935	broad.mit.edu	37	chr12	96288830	96288830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtgctctttttagtgCttgctggatttgccaatgtt	4	19	10	8	0	1	0	0	0	1	0	1	1	1	1	2	1	5	4	2	1	2	6			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:96288830C>A	ENST00000344280.3	-	8	1266	c.709G>T	c.(709-711)Gca>Tca	p.A237S	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	237										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTTTTAGTGCTTGCTGGATT	0.333													19	200					2.5808e-16	3.10169e-16	1	0	A	96288830	C	A	96288830	3	1	75	1	0	0	0	0	1	0	0	0	2836	797	28	4	1018	4	CCDC38	12	96288830	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	17690007	96288830	37563065	55	14297											
TMEM132D	121256	broad.mit.edu	37	chr12	130184666	130184666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccacgggggtcccctcCggctggtccacggacttcct	4	8	12	17	3	0	0	0	0	0	0	5	1	5	1	6	5	1	2	6	5	0	1	rs143084996	byFrequency	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:130184666C>T	ENST00000422113.2	-	2	983	c.657G>A	c.(655-657)ccG>ccA	p.P219P		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	219						integral to membrane		p.P219P(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGGTCCCCTCCGGCTGGTCCA	0.682													11	86					0	0	0	0	T	130184666	C	T	130184666	2	4	75	1	0	0	0	0	0	0	0	1	16141	639	23	1		1	TMEM132D	12	130184666	Silent	SNP	C	TCGA-CN-4742-01A-02D-1512-08	33895836	130184666	3667229	56	14298											
FREM2	341640	broad.mit.edu	37	chr13	39266304	39266304	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatcagctacaaacatgatgGcactgagtcaagtgaagata	17	8	9	7	0	2	4	2	3	0	1	2	4	2	4	0	1	3	2	0	1	6	2			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr13:39266304G>C	ENST00000280481.7	+	1	5039	c.4823G>C	c.(4822-4824)gGc>gCc	p.G1608A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1608					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.G1608A(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAACATGATGGCACTGAGTCA	0.423													13	119					0	0	0	0	C	39266304	G	C	39266304	3	2	75	1	0	0	0	0	1	0	0	0	6093	1203	42	4	4825	4	FREM2	13	39266304	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08		39266304	75903574	57	14299											
NEK5	341676	broad.mit.edu	37	chr13	52684698	52684698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtcctagagaaatctgtaCaaaccaaccgaggatctata	16	9	7	9	1	2	1	0	0	2	1	3	4	3	2	3	1	3	1	3	1	8	5			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr13:52684698C>A	ENST00000355568.4	-	6	467	c.328G>T	c.(328-330)Gta>Tta	p.V110L		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	110	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.V167L(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAAATCTGTACAAACCAACCG	0.383													5	35					0.014758	0.0153436	1	0	A	52684698	C	A	52684698	3	1	75	1	0	0	0	0	1	0	0	0	10397	478	17	4	1866	4	NEK5	13	52684698	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	13418394	52684698	62485180	58	14300											
RBM26	64062	broad.mit.edu	37	chr13	79943084	79943091	+	Frame_Shift_Del	DEL	CTGTTCTA	CTGTTCTA	-																															ataattattttctaatggatCtgttctatccaggtcatatt																										TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr13:79943084_79943091delCTGTTCTA	ENST00000438737.2	-	6	1109_1116	c.669_676delTAGAACAG	c.(667-678)gaatfs	p.DRTD223fs	RBM26_ENST00000438724.1_Frame_Shift_Del_p.DRTD223fs|RBM26_ENST00000267229.7_Frame_Shift_Del_p.DRTD223fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	223					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCTAATGGATCTGTTCTATCCAGGTCAT	0.351													8	158	---	---	---	---					-	79943091	CTGTTCTA	-	79943084	7	5	75	1	0	1	0	1	0	0	0	0	13208	913	32	0	2330	0	RBM26	13	79943084	Frame_Shift_Del	DEL	CTGTTCTA	TCGA-CN-4742-01A-02D-1512-08	27258386	79943084	35226794	59	14301											
TOX4	9878	broad.mit.edu	37	chr14	21961325	21961325	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtggaaagtagtcctgAgcggcctatgaacaacagcc	13	7	11	10	1	0	2	0	2	0	0	1	3	1	3	3	2	5	1	3	2	6	2			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr14:21961325A>C	ENST00000405508.1	+	8	1826	c.1550A>C	c.(1549-1551)gAg>gCg	p.E517A	TOX4_ENST00000448790.2_Missense_Mutation_p.E494A|TOX4_ENST00000262709.3_Missense_Mutation_p.E517A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	517	Gln/Pro-rich.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	p.E517A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGTAGTCCTGAGCGGCCTATG	0.507													13	93					0	0	0	0	C	21961325	A	C	21961325	3	2	75	1	0	0	0	0	1	0	0	0	16475	304	11	5	1576	5	TOX4	14	21961325	Missense_Mutation	SNP	A	TCGA-CN-4742-01A-02D-1512-08		21961325	85388215	60	14302											
RPS6KL1	83694	broad.mit.edu	37	chr14	75376459	75376459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccccctagcaccgggcCggccccctcaggaacccaag	9	2	10	20	2	1	0	1	0	0	0	1	1	1	1	7	3	3	1	7	3	3	1			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr14:75376459C>T	ENST00000555647.1	-	8	1344	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G353S|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G353S|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G322S			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	353	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity	p.G353S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		AGCACCGGGCCGGCCCCCTCA	0.692													9	37					0	0	0	0	T	75376459	C	T	75376459	3	4	75	1	0	0	0	0	1	0	0	0	13744	652	23	1	685	1	RPS6KL1	14	75376459	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	53415134	75376459	31973081	61	14303											
CDAN1	146059	broad.mit.edu	37	chr15	43023936	43023936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtaggcgccacaaccGccccagcttgtcagctccca	7	8	8	18	2	1	0	1	0	0	0	3	0	3	0	6	1	3	3	6	1	2	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr15:43023936G>A	ENST00000356231.3	-	11	1644	c.1621C>T	c.(1621-1623)Cgg>Tgg	p.R541W		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	541						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CGCCACAACCGCCCCAGCTTG	0.627													4	97					0	0	0	0	A	43023936	G	A	43023936	3	1	75	1	0	0	0	0	1	0	0	0	3083	1086	38	1	2134	1	CDAN1	15	43023936	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08		43023936	59507456	62	14304											
ZSCAN29	146050	broad.mit.edu	37	chr15	43658711	43658712	+	Frame_Shift_Ins	INS	-	-	T																															catacacttggctgttcctaINStggcagtttctgagagcctc																										TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr15:43658711_43658712insT	ENST00000396976.2	-	3	952_953	c.818_819insA	c.(817-819)cagfs	p.Q273fs	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Frame_Shift_Ins_p.Q272fs|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	273					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGCTGTTCCTATGGCAGTTTCT	0.545													21	123	---	---	---	---					T	43658712	-	T	43658711	7	5	75	1	0	1	1	0	0	0	0	0	18327	446	16	0	1751	0	ZSCAN29	15	43658711	Frame_Shift_Ins	INS	-	TCGA-CN-4742-01A-02D-1512-08	634775	43658711	58872681	63	14305											
PDXDC1	23042	broad.mit.edu	37	chr16	15122790	15122790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaccttcaggagtcggccgGgagaggcactcgtgtgacgc	8	6	15	12	4	1	2	1	1	0	1	3	4	1	3	2	4	0	1	2	4	0	1			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:15122790G>A	ENST00000396410.4	+	15	1357	c.1260G>A	c.(1258-1260)cgG>cgA	p.R420R	PDXDC1_ENST00000535621.2_Silent_p.R420R|PDXDC1_ENST00000455313.2_Silent_p.R397R|PDXDC1_ENST00000450288.2_Silent_p.R392R|PDXDC1_ENST00000325823.7_Silent_p.R405R|PDXDC1_ENST00000563679.1_Silent_p.R438R|PDXDC1_ENST00000447912.2_Silent_p.R329R|PDXDC1_ENST00000569715.1_Silent_p.R393R	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	420					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	p.R420R(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GAGTCGGCCGGGAGAGGCACT	0.582													4	60					0	0	0	0	A	15122790	G	A	15122790	2	1	75	1	0	0	0	0	0	0	0	1	11767	1219	43	4		4	PDXDC1	16	15122790	Silent	SNP	G	TCGA-CN-4742-01A-02D-1512-08		15122790	75231963	64	14306											
XYLT1	64131	broad.mit.edu	37	chr16	17353318	17353318	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctcgttgttgctgtctgttCgcactttctctttcggccga	2	18	9	12	4	3	0	0	0	3	0	7	1	3	0	1	1	1	5	1	1	0	5	rs150531859	byFrequency	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:17353318C>G	ENST00000261381.6	-	3	524	c.440G>C	c.(439-441)cGa>cCa	p.R147P		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	147					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.R147P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCTGTCTGTTCGCACTTTCTC	0.493													15	83					0	0	0	0	G	17353318	C	G	17353318	3	3	75	1	0	0	0	0	1	0	0	0	17559	884	31	3	2479	3	XYLT1	16	17353318	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	2230528	17353318	73001435	65	14307											
NETO2	81831	broad.mit.edu	37	chr16	47117173	47117173	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgtgcagaatcttctcGccccctgacataaatttcac	9	13	6	13	1	3	2	1	1	2	1	4	2	3	2	2	0	2	2	2	0	3	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:47117173G>A	ENST00000562435.1	-	9	1921	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	NETO2_ENST00000303155.5_Nonsense_Mutation_p.R506*	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	513						integral to membrane	receptor activity	p.R513*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GAATCTTCTCGCCCCCTGACA	0.478										HNSCC(25;0.065)			16	143					0	0	0	0	A	47117173	G	A	47117173	4	1	75	1	0	0	0	0	0	1	0	0	10410	1095	38	1	44	1	NETO2	16	47117173	Nonsense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08	29763855	47117173	43237580	66	14308											
CNOT1	23019	broad.mit.edu	37	chr16	58577499	58577499	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtacctataccaaggaaaTagccaacttacacgaagggc	15	8	8	10	1	0	0	0	0	0	0	0	2	0	1	3	2	5	1	3	2	9	6			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:58577499T>C	ENST00000441024.2	-	31	4730	c.4446A>G	c.(4444-4446)ctA>ctG	p.L1482L	CNOT1_ENST00000569240.1_Intron|CNOT1_ENST00000317147.5_Intron|CNOT1_ENST00000245138.4_Intron	NM_206999.2	NP_996882.1	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	0					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ACCAAGGAAATAGCCAACTTA	0.378													19	75					0	0	0	0	C	58577499	T	C	58577499	2	2	75	1	0	0	0	0	0	0	0	1	3647	1393	49	5		5	CNOT1	16	58577499	Silent	SNP	T	TCGA-CN-4742-01A-02D-1512-08	11460326	58577499	31777254	67	14309											
NAE1	8883	broad.mit.edu	37	chr16	66850564	66850564	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctggagccccattttcatTttttagaattcctattgtaa	9	19	5	8	0	2	1	1	0	1	1	3	2	3	2	3	1	1	1	3	1	4	10			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:66850564T>A	ENST00000379463.2	-	12	934	c.742A>T	c.(742-744)Aat>Tat	p.N248Y	NAE1_ENST00000394074.2_Missense_Mutation_p.N165Y|NAE1_ENST00000359087.4_Missense_Mutation_p.N257Y|NAE1_ENST00000290810.3_Missense_Mutation_p.N254Y	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	254					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	p.N254Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CCATTTTCATTTTTTAGAATT	0.353													5	49					0	0	0	0	A	66850564	T	A	66850564	3	1	75	1	0	0	0	0	1	0	0	0	10209	1841	64	5	884	5	NAE1	16	66850564	Missense_Mutation	SNP	T	TCGA-CN-4742-01A-02D-1512-08	8273065	66850564	23504189	68	14310											
DHX33	56919	broad.mit.edu	37	chr17	5357158	5357158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctctggatctctggcacGgtcatcttatcaaacttctc	8	14	6	13	1	6	0	2	0	4	0	8	1	6	1	1	3	2	1	1	3	3	3	rs147168886	byFrequency	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:5357158G>A	ENST00000225296.3	-	7	1490	c.1290C>T	c.(1288-1290)acC>acT	p.T430T	DHX33_ENST00000433302.3_Silent_p.T206T	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	430	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.T430T(1)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCTCTGGCACGGTCATCTTAT	0.562													18	26					0	0	0	0	A	5357158	G	A	5357158	2	1	75	1	0	0	0	0	0	0	0	1	4543	1103	39	1		1	DHX33	17	5357158	Silent	SNP	G	TCGA-CN-4742-01A-02D-1512-08		5357158	75838052	69	14311											
TP53	7157	broad.mit.edu	37	chr17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagctcgtggtgaggctCccctttcttgcggagattct	4	12	14	11	2	2	2	0	1	2	1	4	3	3	2	2	4	2	3	2	4	0	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:7577058C>A	ENST00000420246.2	-	8	1012	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E294*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	294	Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGTGAGGCTCCCCTTTCTTG	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	57					1.10513e-12	1.30426e-12	1	0	A	7577058	C	A	7577058	4	1	75	1	0	0	0	0	0	1	0	0	16476	864	30	2	406	2	TP53	17	7577058	Nonsense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	2219900	7577058	73618152	70	14312											
CDK5R1	8851	broad.mit.edu	37	chr17	30815310	30815310	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggatcacgagctccaggcCgtcctgctgacatgcctgta	7	9	11	14	3	1	1	1	1	0	0	4	3	3	2	4	2	3	3	4	2	1	1			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:30815310C>T	ENST00000313401.3	+	2	1361	c.672C>T	c.(670-672)gcC>gcT	p.A224A		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	224					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			AGCTCCAGGCCGTCCTGCTGA	0.592													36	209					0	0	0	0	T	30815310	C	T	30815310	2	4	75	1	0	0	0	0	0	0	0	1	3172	639	23	1		1	CDK5R1	17	30815310	Silent	SNP	C	TCGA-CN-4742-01A-02D-1512-08	23238252	30815310	50379900	71	14313											
TBKBP1	9755	broad.mit.edu	37	chr17	45777021	45777021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatctggcctccaaccagtCggagcgagacatggcgtggg	8	6	16	11	3	1	1	0	0	1	1	3	4	2	3	3	5	2	0	3	5	1	0			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:45777021C>T	ENST00000361722.3	+	6	1679	c.830C>T	c.(829-831)tCg>tTg	p.S277L		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	277					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						TCCAACCAGTCGGAGCGAGAC	0.572											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	197					0	0	0	0	T	45777021	C	T	45777021	3	4	75	1	0	0	0	0	1	0	0	0	15732	893	31	1	852	1	TBKBP1	17	45777021	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	14961711	45777021	35418189	72	14314											
INTS2	57508	broad.mit.edu	37	chr17	59946709	59946709	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatagatggaatacctgcGaccgtcagaggcaaaagttc	13	8	11	9	2	1	2	1	0	0	2	2	4	1	3	2	2	3	3	2	2	5	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:59946709G>A	ENST00000444766.3	-	22	3162	c.3087C>T	c.(3085-3087)gtC>gtT	p.V1029V	INTS2_ENST00000251334.6_Silent_p.V1021V	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1029					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.V1029V(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GAATACCTGCGACCGTCAGAG	0.373													7	19					0	0	0	0	A	59946709	G	A	59946709	2	1	75	1	0	0	0	0	0	0	0	1	7831	1045	37	1		1	INTS2	17	59946709	Silent	SNP	G	TCGA-CN-4742-01A-02D-1512-08	14169688	59946709	21248501	73	14315											
AXIN2	8313	broad.mit.edu	37	chr17	63554134	63554134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgtgttttctcccccaCtcctcacatattcgaggtat	8	14	6	13	1	2	0	1	0	1	0	5	1	3	0	3	1	1	3	3	1	3	5			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:63554134C>T	ENST00000307078.5	-	2	918	c.605G>A	c.(604-606)aGt>aAt	p.S202N	AXIN2_ENST00000375702.5_Missense_Mutation_p.S202N|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	202					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTCTCCCCCACTCCTCACATA	0.488									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				44	58					0	0	0	0	T	63554134	C	T	63554134	3	4	75	1	0	0	0	0	1	0	0	0	1241	565	20	4	1966	4	AXIN2	17	63554134	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	3607425	63554134	17641076	74	14316											
LAMA1	284217	broad.mit.edu	37	chr18	6973160	6973160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttgttggtgacttttGatttgagctcatttccttta	5	23	8	5	0	1	3	1	3	0	0	2	3	2	3	1	1	1	3	1	1	1	9			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr18:6973160G>T	ENST00000389658.3	-	47	6763	c.6670C>A	c.(6670-6672)Caa>Aaa	p.Q2224K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2224	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.Q2224K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGACTTTTGATTTGAGCTC	0.378													40	73					2.6416e-12	3.08973e-12	1	0	T	6973160	G	T	6973160	3	4	75	1	0	0	0	0	1	0	0	0	8658	1299	45	2	2625	2	LAMA1	18	6973160	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08		6973160	71104088	75	14317											
MUC16	94025	broad.mit.edu	37	chr19	9064691	9064691	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagggcctgacatggaTgttctgctaaaggagatggc	9	10	14	8	0	2	2	1	1	1	1	2	4	2	3	1	4	2	3	1	4	2	2			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr19:9064691T>A	ENST00000397910.4	-	3	22958	c.22755A>T	c.(22753-22755)acA>acT	p.T7585T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7587	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7585T(1)|p.T3218T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGACATGGATGTTCTGCTAA	0.488													16	89					0	0	0	0	A	9064691	T	A	9064691	2	1	75	1	0	0	0	0	0	0	0	1	10043	1451	51	5		5	MUC16	19	9064691	Silent	SNP	T	TCGA-CN-4742-01A-02D-1512-08		9064691	50064292	76	14318											
KEAP1	9817	broad.mit.edu	37	chr19	10602732	10602732	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgcacttctgcagctgcatCtgcaggaagttcggcgtcaa	8	10	11	12	3	3	0	1	0	2	0	5	1	3	1	0	2	4	6	0	2	2	2			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr19:10602732C>T	ENST00000171111.5	-	3	1393	c.846G>A	c.(844-846)caG>caA	p.Q282Q	KEAP1_ENST00000393623.2_Silent_p.Q282Q|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	282	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.Q282Q(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCAGCTGCATCTGCAGGAAGT	0.617													12	72					0	0	0	0	T	10602732	C	T	10602732	2	4	75	1	0	0	0	0	0	0	0	1	8193	912	32	2		2	KEAP1	19	10602732	Silent	SNP	C	TCGA-CN-4742-01A-02D-1512-08	1538041	10602732	48526251	77	14319											
ZNF527	84503	broad.mit.edu	37	chr19	37880352	37880352	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagaattcataccggagaAaagccctatgaatgcatcaa	17	7	8	9	1	2	3	2	1	0	2	2	5	2	3	2	1	3	1	2	1	7	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr19:37880352A>G	ENST00000436120.2	+	5	1508	c.1401A>G	c.(1399-1401)gaA>gaG	p.E467E	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E467E(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATACCGGAGAAAAGCCCTATG	0.413													5	64					0	0	0	0	G	37880352	A	G	37880352	2	3	75	1	0	0	0	0	0	0	0	1	18063	11	1	5		5	ZNF527	19	37880352	Silent	SNP	A	TCGA-CN-4742-01A-02D-1512-08	27277620	37880352	21248631	78	14320											
OXT	5020	broad.mit.edu	37	chr20	3052920	3052920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcttgggcctctgctgcagCccgggtgagcggggcaaggc	4	7	18	12	2	2	1	0	1	2	0	2	1	2	1	2	5	4	3	2	5	1	1			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr20:3052920C>T	ENST00000217386.2	+	2	354	c.318C>T	c.(316-318)agC>agT	p.S106S		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	106					signal transduction		neurohypophyseal hormone activity			lung(2)	2					Oxytocin(DB00107)	TCTGCTGCAGCCCGGGTGAGC	0.751													3	26					0	0	0	0	T	3052920	C	T	3052920	2	4	75	1	0	0	0	0	0	0	0	1	11408	738	26	4		4	OXT	20	3052920	Silent	SNP	C	TCGA-CN-4742-01A-02D-1512-08		3052920	59972600	79	14321											
C20orf26	26074	broad.mit.edu	37	chr20	20177407	20177407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctaccgtgtttacccaaaatCcagagaaggcaaggtaagag	15	7	10	9	1	0	2	0	0	0	2	1	3	1	2	3	2	2	3	3	2	7	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr20:20177407C>T	ENST00000245957.5	+	16	1860	c.1784C>T	c.(1783-1785)tCc>tTc	p.S595F	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	595										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TACCCAAAATCCAGAGAAGGC	0.468													9	91					0	0	0	0	T	20177407	C	T	20177407	3	4	75	1	0	0	0	0	1	0	0	0	2126	855	30	2	1874	2	C20orf26	20	20177407	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	17124487	20177407	42848113	80	14322											
THAP7	80764	broad.mit.edu	37	chr22	21355011	21355011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctttggtcttggttgtcCggcgcaacttggagaaagac	7	12	13	9	2	1	2	0	0	1	2	3	3	3	2	2	4	1	2	2	4	2	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:21355011C>T	ENST00000215742.4	-	3	476	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	THAP7_ENST00000399133.2_Missense_Mutation_p.R101Q	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	101					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTTGGTTGTCCGGCGCAACTT	0.572													5	255					0	0	0	0	T	21355011	C	T	21355011	3	4	75	1	0	0	0	0	1	0	0	0	15943	652	23	1	635	1	THAP7	22	21355011	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08		21355011	29949555	81	14323											
ZNF280A	129025	broad.mit.edu	37	chr22	22869403	22869403	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtacccctgggattccatcCctgagtttaacccttttgga	7	13	9	12	0	0	1	0	1	0	0	2	3	2	3	5	3	2	2	5	3	2	6			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:22869403C>G	ENST00000302097.3	-	2	804	c.552G>C	c.(550-552)agG>agC	p.R184S		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R184S(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GGATTCCATCCCTGAGTTTAA	0.448													19	165					0	0	0	0	G	22869403	C	G	22869403	3	3	75	1	0	0	0	0	1	0	0	0	17909	622	22	4	1080	4	ZNF280A	22	22869403	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	1514392	22869403	28435163	82	14324											
HPS4	89781	broad.mit.edu	37	chr22	26849287	26849287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgagggtttgggaagccgGagctccgtgctgcaggtgcc	5	8	17	11	2	0	1	0	1	0	0	1	3	1	3	4	4	5	4	4	4	1	1			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:26849287G>A	ENST00000398145.2	-	14	2655	c.2039C>T	c.(2038-2040)tCc>tTc	p.S680F	HPS4_ENST00000336873.5_Missense_Mutation_p.S680F|HPS4_ENST00000402105.3_Missense_Mutation_p.S675F|HPS4_ENST00000398141.1_Missense_Mutation_p.S693F|HPS4_ENST00000493455.2_Intron	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	680					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TGGGAAGCCGGAGCTCCGTGC	0.582									Hermansky-Pudlak syndrome				7	268					0	0	0	0	A	26849287	G	A	26849287	3	1	75	1	0	0	0	0	1	0	0	0	7391	1174	41	2	91	2	HPS4	22	26849287	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08	3979884	26849287	24455279	83	14325											
AP1B1	162	broad.mit.edu	37	chr22	29730294	29730294	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagtcggtcatgacctGcaaggccttgttggtcagct	8	10	13	10	1	2	1	2	1	0	0	3	1	2	1	2	4	2	4	2	4	2	2			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:29730294G>A	ENST00000357586.2	-	17	2455	c.2269C>T	c.(2269-2271)Cag>Tag	p.Q757*	AP1B1_ENST00000356015.2_Nonsense_Mutation_p.Q750*|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.Q750*|AP1B1_ENST00000317368.7_Nonsense_Mutation_p.Q730*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.Q750*|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000405198.1_Nonsense_Mutation_p.Q757*|AP1B1_ENST00000402502.1_Nonsense_Mutation_p.Q750*	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	757					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTCATGACCTGCAAGGCCTTG	0.607													4	130					0	0	0	0	A	29730294	G	A	29730294	4	1	75	1	0	0	0	0	0	1	0	0	732	1328	46	4	608	4	AP1B1	22	29730294	Nonsense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08	2881007	29730294	21574272	84	14326											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-																															gctgcggctgggcgggacgcGcagcagcagcagcagcagca																								rs72445954		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4	---	---	---	---					-	38079978	GCA	-	38079976	7	5	75	1	0	1	0	1	0	0	0	0	15254	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-CN-4742-01A-02D-1512-08		38079976	117190584	85	14327											
USP9X	8239	broad.mit.edu	37	chrX	41007737	41007737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgttgaaccttctgtGgaatctggctcacagtgatg	10	12	11	8	0	3	2	1	2	2	0	3	3	3	3	1	2	1	2	1	2	3	2			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:41007737G>T	ENST00000324545.7	+	12	2168	c.1535G>T	c.(1534-1536)tGg>tTg	p.W512L	USP9X_ENST00000378308.2_Missense_Mutation_p.W512L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	512					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.W505L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AACCTTCTGTGGAATCTGGCT	0.448													20	140					1.96292e-10	2.2756e-10	1	0	T	41007737	G	T	41007737	3	4	75	1	0	0	0	0	1	0	0	0	17186	1357	47	4	1577	4	USP9X	23	41007737	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08	2927761	41007737	114262823	86	14328											
ATRX	546	broad.mit.edu	37	chrX	76872192	76872192	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgttaatgctgtataatCtttcctctgtaattaacaag	11	19	5	6	0	2	0	0	0	2	0	3	0	3	0	1	0	2	4	1	0	6	8			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:76872192C>G	ENST00000373344.5	-	22	5669	c.5455G>C	c.(5455-5457)Gat>Cat	p.D1819H	ATRX_ENST00000395603.3_Missense_Mutation_p.D1781H|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1819					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GCTGTATAATCTTTCCTCTGT	0.303			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						26	108					0	0	0	0	G	76872192	C	G	76872192	3	3	75	1	0	0	0	0	1	0	0	0	1212	913	32	2	2079	2	ATRX	23	76872192	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	35864455	76872192	78398368	87	14329											
CHM	1121	broad.mit.edu	37	chrX	85119736	85119736	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgaagcctctggctgtaAactgtctccatcaaggataa	11	12	8	10	0	4	1	1	1	3	0	5	2	4	2	2	2	2	2	2	2	5	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:85119736A>T	ENST00000357749.2	-	15	1890	c.1861T>A	c.(1861-1863)Tta>Ata	p.L621I	CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.L473I	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	621					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCTGGCTGTAAACTGTCTCCA	0.478													8	34					0	0	0	0	T	85119736	A	T	85119736	3	4	75	1	0	0	0	0	1	0	0	0	3379	11	1	5	104	5	CHM	23	85119736	Missense_Mutation	SNP	A	TCGA-CN-4742-01A-02D-1512-08	8247544	85119736	70150824	88	14330											
PCDH11X	27328	broad.mit.edu	37	chrX	91132915	91132915	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgtcacagtctttgtaaGcattattgatcagaatgaca	14	13	7	7	0	3	3	2	2	1	1	3	3	3	3	0	0	1	2	0	0	4	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:91132915G>C	ENST00000373094.1	+	2	2521	c.1676G>C	c.(1675-1677)aGc>aCc	p.S559T	PCDH11X_ENST00000373097.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S559T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S559T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S559T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S559T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	559	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.S559T(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTCTTTGTAAGCATTATTGAT	0.373													33	165					0	0	0	0	C	91132915	G	C	91132915	3	2	75	1	0	0	0	0	1	0	0	0	11579	971	34	4	1682	4	PCDH11X	23	91132915	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08	6013179	91132915	64137645	89	14331											
SRPX2	27286	broad.mit.edu	37	chrX	99917202	99917202	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttatacattaaatatcCaggatggagaagccacatgc	14	10	10	7	0	0	1	0	0	0	1	1	3	1	2	2	3	3	1	2	3	6	4			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:99917202C>T	ENST00000373004.3	+	4	621	c.193C>T	c.(193-195)Cag>Tag	p.Q65*		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	65					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	p.Q65*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ATTAAATATCCAGGATGGAGA	0.468													25	101					0	0	0	0	T	99917202	C	T	99917202	4	4	75	1	0	0	0	0	0	1	0	0	15255	595	21	4	203	4	SRPX2	23	99917202	Nonsense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	8784287	99917202	55353358	90	14332											
RAB9B	51209	broad.mit.edu	37	chrX	103080374	103080374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaaggggaaatgctcaGggtccttcacatccgcatag	12	8	10	11	1	2	0	2	0	0	0	4	1	4	1	2	3	2	2	2	3	4	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:103080374G>T	ENST00000243298.2	-	3	625	c.341C>A	c.(340-342)cCt>cAt	p.P114H		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	114					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	p.P114H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						GAAATGCTCAGGGTCCTTCAC	0.483													6	455					0.217242	0.22061	1	0	T	103080374	G	T	103080374	3	4	75	1	0	0	0	0	1	0	0	0	13041	1000	35	4	268	4	RAB9B	23	103080374	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08	3163172	103080374	52190186	91	14333											
AMOT	154796	broad.mit.edu	37	chrX	112058641	112058641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactcttgcctcaagttcCggttctcgtctgagaggatc	7	12	9	13	2	4	1	1	1	3	1	7	3	5	2	3	2	2	2	3	2	2	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:112058641C>T	ENST00000371959.3	-	2	1336	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q	AMOT_ENST00000524145.1_Missense_Mutation_p.R446Q|AMOT_ENST00000371958.1_Missense_Mutation_p.R214Q|AMOT_ENST00000371962.1_Missense_Mutation_p.R214Q|AMOT_ENST00000304758.1_Missense_Mutation_p.R37Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	446					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CCTCAAGTTCCGGTTCTCGTC	0.498													75	316					0	0	0	0	T	112058641	C	T	112058641	3	4	75	1	0	0	0	0	1	0	0	0	582	652	23	1	1957	1	AMOT	23	112058641	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	8978267	112058641	43211919	92	14334											
USP26	83844	broad.mit.edu	37	chrX	132159533	132159533	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttctgaagggtctcctctaCctccttgctattaagctggg	6	14	9	12	0	3	1	0	1	3	0	5	1	4	1	3	2	3	2	3	2	4	5			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:132159533C>A	ENST00000511190.1	-	6	3185	c.2716G>T	c.(2716-2718)Gta>Tta	p.V906L	USP26_ENST00000406273.1_Missense_Mutation_p.V906L|USP26_ENST00000370832.1_Missense_Mutation_p.V906L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	906					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.V906L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GTCTCCTCTACCTCCTTGCTA	0.448													18	99					1.67942e-08	1.91307e-08	1	0	A	132159533	C	A	132159533	3	1	75	1	0	0	0	0	1	0	0	0	17153	507	18	4	28	4	USP26	23	132159533	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	20100892	132159533	23111027	93	14335											
CXorf48	54967	broad.mit.edu	37	chrX	134305097	134305097	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcagaagcctgagcatcGtcccagttgtcaccaccggc	8	8	10	15	2	2	2	2	1	1	1	5	2	3	2	4	1	2	2	4	1	1	1			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:134305097G>A	ENST00000344129.2	-	0	225				CXorf48_ENST00000276241.6_De_novo_Start_InFrame	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					CCTGAGCATCGTCCCAGTTGT	0.632													15	104					0	0	0	0	A	134305097	G	A	134305097	1	1	75	1	0	0	0	0	0	0	0	0	4143	1160	40	1		1	CXorf48	23	134305097	Translation_Start_Site	SNP	G	TCGA-CN-4742-01A-02D-1512-08	2145564	134305097	20965463	94	14336											
SLC9A6	10479	broad.mit.edu	37	chrX	135098865	135098865	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctacatggggctgacacTgttcaccttccagaaccatg	9	10	8	14	0	1	2	1	1	0	1	3	2	3	2	4	2	2	2	4	2	2	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:135098865T>A	ENST00000370695.4	+	10	1333	c.1298T>A	c.(1297-1299)cTg>cAg	p.L433Q	SLC9A6_ENST00000370698.3_Missense_Mutation_p.L401Q|SLC9A6_ENST00000370701.1_Missense_Mutation_p.L381Q	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	401					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.L401Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGGCTGACACTGTTCACCTTC	0.333													8	119					0	0	0	0	A	135098865	T	A	135098865	3	1	75	1	0	0	0	0	1	0	0	0	14806	1580	55	5	1336	5	SLC9A6	23	135098865	Missense_Mutation	SNP	T	TCGA-CN-4742-01A-02D-1512-08	793768	135098865	20171695	95	14337											
MAGEC1	9947	broad.mit.edu	37	chrX	140995932	140995932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggatgaaaaggtggacgaGttggcgcggtttcttctcct	7	12	14	8	3	2	1	0	1	2	0	3	4	2	3	1	5	0	2	1	5	2	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:140995932G>C	ENST00000285879.4	+	4	3028	c.2742G>C	c.(2740-2742)gaG>gaC	p.E914D	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	914	MAGE.						protein binding	p.E914D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGGACGAGTTGGCGCGGT	0.493										HNSCC(15;0.026)			30	321					0	0	0	0	C	140995932	G	C	140995932	3	2	75	1	0	0	0	0	1	0	0	0	9249	1020	36	4	2748	4	MAGEC1	23	140995932	Missense_Mutation	SNP	G	TCGA-CN-4742-01A-02D-1512-08	5897067	140995932	14274628	96	14338											
L1CAM	3897	broad.mit.edu	37	chrX	153130403	153130403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggttgtgtgtccgaagttcGgggtcccgaaggttgaagga	8	10	17	6	3	0	1	0	1	0	0	3	4	2	2	2	5	0	3	2	5	3	3			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:153130403G>A	ENST00000370060.1	-	23	3108	c.2919C>T	c.(2917-2919)ccC>ccT	p.P973P	L1CAM_ENST00000370057.3_Silent_p.P973P|L1CAM_ENST00000543994.1_Silent_p.P975P|L1CAM_ENST00000538883.1_Silent_p.P975P|L1CAM_ENST00000361981.3_Silent_p.P968P|L1CAM_ENST00000370055.1_Silent_p.P968P|L1CAM_ENST00000361699.4_Silent_p.P973P	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	973	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.P973P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGAAGTTCGGGGTCCCGAA	0.642													44	281					0	0	0	0	A	153130403	G	A	153130403	2	1	75	1	0	0	0	0	0	0	0	1	8641	1103	39	1		1	L1CAM	23	153130403	Silent	SNP	G	TCGA-CN-4742-01A-02D-1512-08	12134471	153130403	2140157	97	14339											
PLXNA3	55558	broad.mit.edu	37	chrX	153698457	153698457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaccatcgcgagggggacCgtggcagcaagatggtctcc	8	5	15	13	4	1	1	0	0	1	1	3	4	1	2	4	4	1	2	4	4	1	0			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:153698457C>T	ENST00000369682.3	+	29	5108	c.4933C>T	c.(4933-4935)Cgt>Tgt	p.R1645C	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1645					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.R1645C(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGAGGGGGACCGTGGCAGCAA	0.627													21	82					0	0	0	0	T	153698457	C	T	153698457	3	4	75	1	0	0	0	0	1	0	0	0	12193	652	23	1	5043	1	PLXNA3	23	153698457	Missense_Mutation	SNP	C	TCGA-CN-4742-01A-02D-1512-08	568054	153698457	1572103	98	14340											
NOC2L	26155	broad.mit.edu	37	chr1	889227	889227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagcacgctgatgtgccGcagcacggccgccaacaccg	9	3	11	18	5	0	1	0	1	0	0	0	1	0	1	5	1	4	4	5	1	1	0			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:889227G>A	ENST00000327044.6	-	8	872	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	275						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTGATGTGCCGCAGCACGGCC	0.617													7	53					0	0	0	0	A	889227	G	A	889227	3	1	76	1	0	0	0	0	1	0	0	0	10583	1086	38	1	1474	1	NOC2L	1	889227	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08		889227	248361394	1	14341											
NPHP4	261734	broad.mit.edu	37	chr1	6038470	6038470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgacagtacctccagcaCgccctaggagacaacgggga	11	5	11	14	2	1	2	0	1	1	1	2	4	2	3	3	3	3	2	3	3	3	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:6038470C>T	ENST00000378156.4	-	3	404	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	47					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCCAGCACGCCCTAGGAG	0.557													3	16					0	0	0	0	T	6038470	C	T	6038470	3	4	76	1	0	0	0	0	1	0	0	0	10651	536	19	1	4253	1	NPHP4	1	6038470	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	5149243	6038470	243212151	2	14342											
EPHA2	1969	broad.mit.edu	37	chr1	16475542	16475542	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttctgcatcaggtcccActgtggggggaagatacagg	9	9	15	8	0	2	1	1	0	1	1	3	3	3	2	1	5	2	2	1	5	2	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:16475542A>C	ENST00000358432.5	-	3	308	c.153_splice	c.e3-1	p.W52_splice	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	52					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ATCAGGTCCCACTGTGGGGGG	0.557													11	58					0	0	0	0	C	16475542	A	C	16475542	5	2	76	1	0	0	0	0	0	0	1	0	5205	173	6	5	2836	5	EPHA2	1	16475542	Splice_Site	SNP	A	TCGA-CN-5355-01A-01D-1434-08	10437072	16475542	232775079	3	14343											
ELTD1	64123	broad.mit.edu	37	chr1	79383352	79383352	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgctggtcctataaaactCcaaataaagttgttttcggt	12	14	7	8	1	0	0	0	0	0	0	3	0	2	0	2	2	2	3	2	2	6	6			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:79383352C>A	ENST00000370742.3	-	12	1779	c.1716G>T	c.(1714-1716)tgG>tgT	p.W572C		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	572					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTATAAAACTCCAAATAAAGT	0.279													10	46					3.86212e-05	4.20601e-05	1	0	A	79383352	C	A	79383352	3	1	76	1	0	0	0	0	1	0	0	0	5122	856	30	2	372	2	ELTD1	1	79383352	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	62907810	79383352	169867269	4	14344											
COL24A1	255631	broad.mit.edu	37	chr1	86591796	86591796	+	Frame_Shift_Del	DEL	C	C	-																															tcctgattctgttaaatggaCcccctgaggtaacggtgtag																										TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:86591796delC	ENST00000370571.2	-	3	589	c.223delG	c.(223-225)tcfs	p.V75fs	COL24A1_ENST00000436319.1_Frame_Shift_Del_p.V75fs	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	75	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTTAAATGGACCCCCTGAGGT	0.428													7	101	---	---	---	---					-	86591796	C	-	86591796	7	5	76	1	0	1	0	1	0	0	0	0	3713	507	18	0	5153	0	COL24A1	1	86591796	Frame_Shift_Del	DEL	C	TCGA-CN-5355-01A-01D-1434-08	7208444	86591796	162658825	5	14345											
STXBP3	6814	broad.mit.edu	37	chr1	109295688	109295688	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtgtttgttttaagataAtgcttttagatgaatttacc	10	21	7	3	0	0	3	0	1	0	2	0	3	0	3	1	0	2	3	1	0	5	9			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:109295688A>T	ENST00000370008.3	+	3	153	c.103A>T	c.(103-105)Atg>Ttg	p.M35L		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	35	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TTTTAAGATAATGCTTTTAGA	0.289													36	110					0	0	0	0	T	109295688	A	T	109295688	3	4	76	1	0	0	0	0	1	0	0	0	15444	101	4	5	113	5	STXBP3	1	109295688	Missense_Mutation	SNP	A	TCGA-CN-5355-01A-01D-1434-08	22703892	109295688	139954933	6	14346											
NME7	29922	broad.mit.edu	37	chr1	169200035	169200035	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccattgctacacaagggccaGaatacatttctgtcaccatg	12	10	7	12	0	2	1	1	0	1	1	2	1	2	1	3	1	3	1	3	1	4	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:169200035G>C	ENST00000367811.3	-	10	1167	c.911C>G	c.(910-912)tCt>tGt	p.S304C	NME7_ENST00000472647.1_Missense_Mutation_p.S268C	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	304					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					ACAAGGGCCAGAATACATTTC	0.323													29	54					0	0	0	0	C	169200035	G	C	169200035	3	2	76	1	0	0	0	0	1	0	0	0	10566	942	33	2	231	2	NME7	1	169200035	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	59904347	169200035	80050586	7	14347											
KCNT2	343450	broad.mit.edu	37	chr1	196205130	196205130	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttacacaacatcattcagCtctattctggtatctggaga	12	13	6	10	0	5	1	2	0	3	1	5	2	5	1	0	2	3	2	0	2	4	5			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:196205130C>T	ENST00000367433.5	-	26	3311	c.3210G>A	c.(3208-3210)gaG>gaA	p.E1070E	KCNT2_ENST00000294725.8_Silent_p.E1094E|KCNT2_ENST00000367431.4_Silent_p.E1028E|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1094						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CATCATTCAGCTCTATTCTGG	0.313													89	298					0	0	0	0	T	196205130	C	T	196205130	2	4	76	1	0	0	0	0	0	0	0	1	8145	796	28	4		4	KCNT2	1	196205130	Silent	SNP	C	TCGA-CN-5355-01A-01D-1434-08	27005095	196205130	53045491	8	14348											
MARK1	4139	broad.mit.edu	37	chr1	220825399	220825399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctgtcccctcagcacGaccccgccaccagaagtcca	8	6	7	20	2	2	1	1	0	1	1	4	2	4	1	7	0	2	2	7	0	1	0			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:220825399G>T	ENST00000402574.1	+	15	2240	c.1238G>T	c.(1237-1239)cGa>cTa	p.R413L	MARK1_ENST00000366917.4_Missense_Mutation_p.R548L|MARK1_ENST00000366918.4_Missense_Mutation_p.R526L	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	548					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CCCTCAGCACGACCCCGCCAC	0.512													20	116					0.00152264	0.00163581	1	0	T	220825399	G	T	220825399	3	4	76	1	0	0	0	0	1	0	0	0	9381	1058	37	3	1701	3	MARK1	1	220825399	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	24620269	220825399	28425222	9	14349											
MTR	4548	broad.mit.edu	37	chr1	237044136	237044136	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtccaagagtgtggtggtGgtaagtgggtgaccttacat	8	11	16	6	1	0	2	0	1	0	1	1	2	1	2	2	4	1	1	2	4	3	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:237044136G>A	ENST00000366577.5	+	25	3070	c.2676_splice	c.e25+1	p.V892_splice	MTR_ENST00000535889.1_Splice_Site_p.V841_splice	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	892	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTGTGGTGGTGGTAAGTGGGT	0.408													3	65					0	0	0	0	A	237044136	G	A	237044136	5	1	76	1	0	0	0	0	0	0	1	0	10028	1362	47	4	2774	4	MTR	1	237044136	Splice_Site	SNP	G	TCGA-CN-5355-01A-01D-1434-08	16218737	237044136	12206485	10	14350											
RYR2	6262	broad.mit.edu	37	chr1	237870464	237870464	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgggccgagatgtgctgcAcagccctgaactcagagcac	11	5	12	13	2	1	3	1	1	0	2	1	4	1	3	2	1	6	3	2	1	2	0			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:237870464A>T	ENST00000366574.2	+	68	10113	c.9796A>T	c.(9796-9798)Aca>Tca	p.T3266S	RYR2_ENST00000360064.6_Missense_Mutation_p.T3264S|RYR2_ENST00000542537.1_Missense_Mutation_p.T3250S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3266					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGTGCTGCACAGCCCTGAA	0.478													11	60					0	0	0	0	T	237870464	A	T	237870464	3	4	76	1	0	0	0	0	1	0	0	0	13854	159	6	5	10066	5	RYR2	1	237870464	Missense_Mutation	SNP	A	TCGA-CN-5355-01A-01D-1434-08	826328	237870464	11380157	11	14351											
EML4	27436	broad.mit.edu	37	chr2	42557100	42557100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatctaatactcccacacCgcctccttctcagcccttaa	10	10	2	19	1	2	0	1	0	2	0	5	0	4	0	6	0	2	0	6	0	4	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:42557100C>G	ENST00000318522.5	+	23	2961	c.2699C>G	c.(2698-2700)cCg>cGg	p.P900R	EML4_ENST00000401738.3_Missense_Mutation_p.P911R|EML4_ENST00000402711.2_Missense_Mutation_p.P842R|EML4_ENST00000453191.2_Missense_Mutation_p.P164R	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	900					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.P900L(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACTCCCACACCGCCTCCTTCT	0.473			T	ALK	NSCLC								33	133					0	0	0	0	G	42557100	C	G	42557100	3	3	76	1	0	0	0	0	1	0	0	0	5137	652	23	3	2789	3	EML4	2	42557100	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08		42557100	200642273	12	14352											
NMS	129521	broad.mit.edu	37	chr2	101087010	101087010	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctactgcttctgcatgctAcagattccctcctcaggtaa	9	13	6	13	0	3	1	1	0	2	1	5	1	5	1	2	1	5	4	2	1	3	5			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:101087010A>G	ENST00000376865.1	+	1	67	c.60A>G	c.(58-60)ctA>ctG	p.L20L		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	20					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TCTGCATGCTACAGATTCCCT	0.537													34	153					0	0	0	0	G	101087010	A	G	101087010	2	3	76	1	0	0	0	0	0	0	0	1	10572	378	14	5		5	NMS	2	101087010	Silent	SNP	A	TCGA-CN-5355-01A-01D-1434-08	58529910	101087010	142112363	13	14353											
BCL2L11	10018	broad.mit.edu	37	chr2	111907687	111907687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcgcccaagagttgcggcGtattggagacgagtttaacg	10	9	14	8	5	0	2	0	0	0	2	1	5	0	2	1	2	2	3	1	2	3	5			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:111907687G>T	ENST00000393256.3	+	3	734	c.461G>T	c.(460-462)cGt>cTt	p.R154L	BCL2L11_ENST00000393253.2_Missense_Mutation_p.R64L|BCL2L11_ENST00000308659.8_Missense_Mutation_p.R94L|BCL2L11_ENST00000357757.2_Missense_Mutation_p.R154L	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	154					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						GAGTTGCGGCGTATTGGAGAC	0.448													11	45					2.10051e-16	2.65064e-16	1	0	T	111907687	G	T	111907687	3	4	76	1	0	0	0	0	1	0	0	0	1373	1145	40	3	596	3	BCL2L11	2	111907687	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	10820677	111907687	131291686	14	14354											
STEAP3	55240	broad.mit.edu	37	chr2	120003448	120003448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaagagcaccttcagcatCgtgagtccaatgctgagtac	12	8	10	11	1	1	3	1	2	0	1	3	3	2	3	2	0	5	5	2	0	3	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:120003448C>T	ENST00000354888.5	+	3	880	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	STEAP3_ENST00000450943.2_Missense_Mutation_p.R126C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R126C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R126C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R136C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393107.2_Missense_Mutation_p.R126C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R126C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R126C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	126					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CCTTCAGCATCGTGAGTCCAA	0.582													7	136					0	0	0	0	T	120003448	C	T	120003448	3	4	76	1	0	0	0	0	1	0	0	0	15369	884	31	1	412	1	STEAP3	2	120003448	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	8095761	120003448	123195925	15	14355											
LRP1B	53353	broad.mit.edu	37	chr2	141283518	141283518	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacatcttatgaaccctgTggttttcactccaagcttat	10	16	5	10	0	2	1	1	1	1	0	3	1	3	1	2	1	3	2	2	1	5	5			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:141283518T>A	ENST00000389484.3	-	49	8892	c.7921A>T	c.(7921-7923)Aca>Tca	p.T2641S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2641	LDL-receptor class A 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGAACCCTGTGGTTTTCACT	0.383										TSP Lung(27;0.18)			22	64					0	0	0	0	A	141283518	T	A	141283518	3	1	76	1	0	0	0	0	1	0	0	0	9019	1696	59	5	6050	5	LRP1B	2	141283518	Missense_Mutation	SNP	T	TCGA-CN-5355-01A-01D-1434-08	21280070	141283518	101915855	16	14356											
NR4A2	4929	broad.mit.edu	37	chr2	157182714	157182715	+	Frame_Shift_Ins	INS	-	-	A																															aggcagaaatgtcgatgttcINSatattctgcaagttggagga																										TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:157182714_157182715insA	ENST00000339562.4	-	7	1849_1850	c.1487_1488insT	c.(1486-1488)aaafs	p.K496fs	NR4A2_ENST00000409108.2_Frame_Shift_Ins_p.*T461fs|NR4A2_ENST00000429376.1_Frame_Shift_Ins_p.*T398fs|NR4A2_ENST00000426264.1_Frame_Shift_Ins_p.K433fs|NR4A2_ENST00000409572.1_Frame_Shift_Ins_p.K496fs|NR4A2_ENST00000539077.1_Frame_Shift_Ins_p.K507fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	496					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TGTCGATGTTCATATTCTGCAA	0.515													22	71	---	---	---	---					A	157182715	-	A	157182714	7	5	76	1	0	1	1	0	0	0	0	0	10704	826	29	0	316	0	NR4A2	2	157182714	Frame_Shift_Ins	INS	-	TCGA-CN-5355-01A-01D-1434-08	15899196	157182714	86016659	17	14357											
MARCH7	64844	broad.mit.edu	37	chr2	160604745	160604745	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgaattctgaaaattcttAcgtttctccaagaatcttga	13	16	5	7	1	4	4	0	3	4	1	5	4	4	4	1	0	1	1	1	0	6	6			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:160604745A>T	ENST00000259050.3	+	5	1066	c.944A>T	c.(943-945)tAc>tTc	p.Y315F	MARCH7_ENST00000539065.1_Missense_Mutation_p.Y259F|MARCH7_ENST00000409591.1_Missense_Mutation_p.Y277F|MARCH7_ENST00000409175.1_Missense_Mutation_p.Y315F	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	315	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GAAAATTCTTACGTTTCTCCA	0.398													26	94					0	0	0	0	T	160604745	A	T	160604745	3	4	76	1	0	0	0	0	1	0	0	0	9375	391	14	5	958	5	MARCH7	2	160604745	Missense_Mutation	SNP	A	TCGA-CN-5355-01A-01D-1434-08	3422031	160604745	82594628	18	14358											
FIGN	55137	broad.mit.edu	37	chr2	164467772	164467772	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagaatgcaaatatgatccGttgtatcctggggcatattc	11	13	10	7	1	0	2	0	1	0	1	3	2	2	2	2	2	1	5	2	2	6	6			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:164467772G>A	ENST00000333129.3	-	3	884	c.570C>T	c.(568-570)aaC>aaT	p.N190N	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	190						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AATATGATCCGTTGTATCCTG	0.502													8	69					0	0	0	0	A	164467772	G	A	164467772	2	1	76	1	0	0	0	0	0	0	0	1	5936	1136	40	1		1	FIGN	2	164467772	Silent	SNP	G	TCGA-CN-5355-01A-01D-1434-08	3863027	164467772	78731601	19	14359											
COBLL1	22837	broad.mit.edu	37	chr2	165551667	165551667	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgattgccagtctttCgatatttccaaggatttggg	7	17	10	7	1	2	1	0	1	2	0	4	3	3	2	2	2	1	1	2	2	2	6	rs61748611		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:165551667C>A	ENST00000375458.2	-	11	2456	c.2235G>T	c.(2233-2235)tcG>tcT	p.S745S	COBLL1_ENST00000409184.3_Silent_p.S783S|COBLL1_ENST00000392717.2_Silent_p.S821S|COBLL1_ENST00000194871.6_Silent_p.S850S|COBLL1_ENST00000342193.4_Silent_p.S783S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	821										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GCCAGTCTTTCGATATTTCCA	0.383													5	321					0.248553	0.253332	1	0	A	165551667	C	A	165551667	2	1	76	1	0	0	0	0	0	0	0	1	3684	871	31	3		3	COBLL1	2	165551667	Silent	SNP	C	TCGA-CN-5355-01A-01D-1434-08	1083895	165551667	77647706	20	14360											
DCAF17	80067	broad.mit.edu	37	chr2	172309702	172309702	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctacctttttcacttgtaggGattctagagatcaacaaaaa	14	13	6	8	0	3	1	2	0	1	1	3	3	3	2	1	1	2	1	1	1	6	7			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:172309702G>T	ENST00000375255.3	+	6	933	c.606G>T	c.(604-606)ggG>ggT	p.G202G	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Silent_p.G202G	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	202						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		p.G202G(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						CACTTGTAGGGATTCTAGAGA	0.328													4	99					0.184627	0.189392	1	0	T	172309702	G	T	172309702	2	4	76	1	0	0	0	0	0	0	0	1	4302	1161	41	2		2	DCAF17	2	172309702	Silent	SNP	G	TCGA-CN-5355-01A-01D-1434-08	6758035	172309702	70889671	21	14361											
COL4A3	1285	broad.mit.edu	37	chr2	228173694	228173694	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgatgtatgtaattttgcAtctcgaaatgattattcata	14	17	6	4	1	2	2	1	2	1	0	3	3	2	2	0	0	1	3	0	0	6	7			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:228173694A>T	ENST00000396578.3	+	49	4704	c.4542A>T	c.(4540-4542)gcA>gcT	p.A1514A	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1514	Collagen IV NC1.|Required for the anti-angiogenic activity of tumstatin.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GTAATTTTGCATCTCGAAATG	0.433													35	106					0	0	0	0	T	228173694	A	T	228173694	2	4	76	1	0	0	0	0	0	0	0	1	3721	204	8	5		5	COL4A3	2	228173694	Silent	SNP	A	TCGA-CN-5355-01A-01D-1434-08	55863992	228173694	15025679	22	14362											
CHL1	10752	broad.mit.edu	37	chr3	384665	384665	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttccgtttttttatttcAgtaaagcatgctaatgactc	9	18	5	9	1	1	1	1	1	0	0	4	1	3	1	2	0	2	4	2	0	4	8			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:384665A>T	ENST00000256509.2	+	8	1321		c.e8-1		CHL1_ENST00000397491.2_Intron	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like						axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTTTATTTCAGTAAAGCATG	0.328													20	77					0	0	0	0	T	384665	A	T	384665	5	4	76	1	0	0	0	0	0	0	1	0	3378	202	7	5	700	5	CHL1	3	384665	Splice_Site	SNP	A	TCGA-CN-5355-01A-01D-1434-08		384665	197637765	23	14363											
RFT1	91869	broad.mit.edu	37	chr3	53156407	53156407	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccttgagcttcacaaacaTatgtgcttgtgccaagaccc	11	10	8	12	0	1	2	1	1	0	1	1	3	1	2	3	0	4	2	3	0	3	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:53156407T>C	ENST00000296292.3	-	4	500	c.439A>G	c.(439-441)Atg>Gtg	p.M147V	RFT1_ENST00000394738.3_Missense_Mutation_p.M108V	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	147					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		TTCACAAACATATGTGCTTGT	0.443													44	93					0	0	0	0	C	53156407	T	C	53156407	3	2	76	1	0	0	0	0	1	0	0	0	13339	1406	49	5	1226	5	RFT1	3	53156407	Missense_Mutation	SNP	T	TCGA-CN-5355-01A-01D-1434-08	52771742	53156407	144866023	24	14364											
CACNA1D	776	broad.mit.edu	37	chr3	53699745	53699745	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcccctccttcacatagcCcttttggtattatttgtaat	7	18	5	11	0	1	0	1	0	0	0	3	0	3	0	4	1	1	3	4	1	4	9			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:53699745C>A	ENST00000288139.3	+	6	943	c.825C>A	c.(823-825)gcC>gcA	p.A275A	CACNA1D_ENST00000422281.2_Silent_p.A275A|CACNA1D_ENST00000350061.5_Silent_p.A275A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	275					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTCACATAGCCCTTTTGGTAT	0.353													36	148					1.04594e-18	1.34116e-18	1	0	A	53699745	C	A	53699745	2	1	76	1	0	0	0	0	0	0	0	1	2566	610	22	4		4	CACNA1D	3	53699745	Silent	SNP	C	TCGA-CN-5355-01A-01D-1434-08	543338	53699745	144322685	25	14365											
NPHP3	27031	broad.mit.edu	37	chr3	132413714	132413714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatttgccatggactccCggatagagtgcagaacaagt	12	9	10	10	1	1	2	1	0	0	2	2	4	2	4	2	2	3	1	2	2	3	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:132413714C>A	ENST00000337331.5	-	16	2353	c.2267G>T	c.(2266-2268)cGg>cTg	p.R756L	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	756					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATGGACTCCCGGATAGAGTG	0.373													31	157					8.88839e-20	1.14899e-19	1	0	A	132413714	C	A	132413714	3	1	76	1	0	0	0	0	1	0	0	0	10650	652	23	3	1773	3	NPHP3	3	132413714	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	78713969	132413714	65608716	26	14366											
PLSCR2	57047	broad.mit.edu	37	chr3	146171942	146171942	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtacaccaggaggagcttgGatttctatctacaaaagtaa	14	10	10	7	0	2	0	0	0	2	0	2	3	2	3	1	4	3	3	1	4	6	6			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:146171942G>A	ENST00000497985.1	-	7	988	c.549C>T	c.(547-549)atC>atT	p.I183I	PLSCR2_ENST00000336685.2_Silent_p.I110I	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	110					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						GAGGAGCTTGGATTTCTATCT	0.328													14	56					0	0	0	0	A	146171942	G	A	146171942	2	1	76	1	0	0	0	0	0	0	0	1	12182	1164	41	2		2	PLSCR2	3	146171942	Silent	SNP	G	TCGA-CN-5355-01A-01D-1434-08	13758228	146171942	51850488	27	14367											
IL12A	3592	broad.mit.edu	37	chr3	159710911	159710911	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaccattggaattaaccaAggtataaaggattttcctcc	13	14	6	8	0	0	0	0	0	0	0	2	2	2	2	4	3	2	1	4	3	7	8			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:159710911A>T	ENST00000305579.2	+	3	684	c.378_splice	c.e3+1	p.K126_splice	IL12A_ENST00000480787.1_Intron|IL12A_ENST00000466512.1_Splice_Site_p.K126_splice|CTD-2049J23.2_ENST00000497452.1_RNA	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	92					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAATTAACCAAGGTATAAAGG	0.383													24	99					0	0	0	0	T	159710911	A	T	159710911	5	4	76	1	0	0	0	0	0	0	1	0	7677	86	3	5	387	5	IL12A	3	159710911	Splice_Site	SNP	A	TCGA-CN-5355-01A-01D-1434-08	13538969	159710911	38311519	28	14368											
SERPINI1	5274	broad.mit.edu	37	chr3	167525118	167525118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaagatgcaaatttgaCaggcctctctggtaagaaat	15	10	8	8	0	2	3	1	1	1	2	3	3	2	3	1	2	1	2	1	2	4	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:167525118C>A	ENST00000295777.5	+	6	1399	c.968C>A	c.(967-969)aCa>aAa	p.T323K	SERPINI1_ENST00000446050.2_Missense_Mutation_p.T323K|SERPINI1_ENST00000488374.1_3'UTR	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	323					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GCAAATTTGACAGGCCTCTCT	0.303													26	129					1.85244e-09	2.18176e-09	1	0	A	167525118	C	A	167525118	3	1	76	1	0	0	0	0	1	0	0	0	14205	478	17	4	986	4	SERPINI1	3	167525118	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	7814207	167525118	30497312	29	14369											
SPATA16	83893	broad.mit.edu	37	chr3	172835423	172835423	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttaggtgggtgcgctaaGgtggacattttcttgcttgt	6	16	14	5	1	1	0	0	0	1	0	1	1	1	1	0	4	2	3	0	4	2	6			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:172835423G>C	ENST00000351008.3	-	2	282	c.99C>G	c.(97-99)acC>acG	p.T33T		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	33					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GGTGCGCTAAGGTGGACATTT	0.403													207	423					0	0	0	0	C	172835423	G	C	172835423	2	2	76	1	0	0	0	0	0	0	0	1	15091	987	35	4		4	SPATA16	3	172835423	Silent	SNP	G	TCGA-CN-5355-01A-01D-1434-08	5310305	172835423	25187007	30	14370											
CPN2	1370	broad.mit.edu	37	chr3	194062541	194062541	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagtctccagctggttatgGgtcagagacaggccaaccag	11	7	12	11	0	2	1	1	0	1	1	3	2	2	1	3	3	2	2	3	3	2	1	rs140809499	byFrequency	TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:194062541G>A	ENST00000323830.3	-	2	980	c.891C>T	c.(889-891)acC>acT	p.T297T	CPN2_ENST00000429275.1_Silent_p.T297T	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	297					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCTGGTTATGGGTCAGAGACA	0.587													25	64					0	0	0	0	A	194062541	G	A	194062541	2	1	76	1	0	0	0	0	0	0	0	1	3840	1219	43	4		4	CPN2	3	194062541	Silent	SNP	G	TCGA-CN-5355-01A-01D-1434-08	21227118	194062541	3959889	31	14371											
WHSC1	7468	broad.mit.edu	37	chr4	1957915	1957915	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggaagagtcttcaaaaacGgtacggagatattcagatag	15	9	11	6	3	3	3	2	0	1	3	4	5	3	4	0	3	2	1	0	3	6	5			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr4:1957915G>T	ENST00000382895.3	+	17	3312	c.2881_splice	c.e17+1	p.A961_splice	WHSC1_ENST00000508803.1_Splice_Site_p.A961_splice|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Splice_Site_p.A309_splice|WHSC1_ENST00000382891.5_Splice_Site_p.A961_splice|WHSC1_ENST00000382892.2_Splice_Site_p.A961_splice	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	961					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTTCAAAAACGGTACGGAGAT	0.463			T	IGH@	MM								15	138					2.31682e-05	2.55816e-05	1	0	T	1957915	G	T	1957915	5	4	76	1	0	0	0	0	0	0	1	0	17458	1130	39	3	3011	3	WHSC1	4	1957915	Splice_Site	SNP	G	TCGA-CN-5355-01A-01D-1434-08		1957915	189196361	32	14372											
YIPF7	285525	broad.mit.edu	37	chr4	44626759	44626759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaatcacaaggcagccaatgGcactcatgccatacacataa	16	6	7	12	0	2	0	2	0	0	0	2	1	2	0	2	2	3	2	2	2	5	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr4:44626759G>T	ENST00000332990.5	-	5	555	c.539C>A	c.(538-540)gCc>gAc	p.A180D		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	180						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GCAGCCAATGGCACTCATGCC	0.507													3	15					1.23904e-05	1.37767e-05	1	0	T	44626759	G	T	44626759	3	4	76	1	0	0	0	0	1	0	0	0	17579	1203	42	4	311	4	YIPF7	4	44626759	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	42668844	44626759	146527517	33	14373											
CXCL10	3627	broad.mit.edu	37	chr4	76943875	76943875	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtggacaaaattggcttgCaggaataatttcaagttttt	13	14	9	5	1	1	0	1	0	0	0	1	2	1	2	0	3	1	3	0	3	5	6			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr4:76943875C>G	ENST00000306602.1	-	2	222	c.157G>C	c.(157-159)Gca>Cca	p.A53P	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	53					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AATTGGCTTGCAGGAATAATT	0.363													17	103					0	0	0	0	G	76943875	C	G	76943875	3	3	76	1	0	0	0	0	1	0	0	0	4110	710	25	4	151	4	CXCL10	4	76943875	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	32317116	76943875	114210401	34	14374											
SEC31A	22872	broad.mit.edu	37	chr4	83770026	83770026	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactggtccaggcctgccCttggggagctgctgtttctc	4	11	13	13	0	1	0	0	0	1	0	3	1	2	1	3	4	4	4	3	4	1	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr4:83770026C>A	ENST00000432794.1	-	20	2596	c.2433G>T	c.(2431-2433)aaG>aaT	p.K811N	SEC31A_ENST00000509142.1_Missense_Mutation_p.K811N|SEC31A_ENST00000508502.1_Missense_Mutation_p.K811N|SEC31A_ENST00000500777.2_Missense_Mutation_p.K772N|SEC31A_ENST00000448323.1_Missense_Mutation_p.K811N|SEC31A_ENST00000443462.2_Missense_Mutation_p.K806N|SEC31A_ENST00000348405.4_Missense_Mutation_p.K772N|SEC31A_ENST00000326950.5_Missense_Mutation_p.K772N|SEC31A_ENST00000311785.7_Missense_Mutation_p.K811N|SEC31A_ENST00000513858.1_Missense_Mutation_p.K772N|SEC31A_ENST00000505984.1_Missense_Mutation_p.K772N|SEC31A_ENST00000264405.5_Missense_Mutation_p.K544N|SEC31A_ENST00000395310.2_Missense_Mutation_p.K811N|SEC31A_ENST00000355196.2_Missense_Mutation_p.K811N|SEC31A_ENST00000505472.1_Missense_Mutation_p.K811N|SEC31A_ENST00000508479.1_Missense_Mutation_p.K811N			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	811	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CAGGCCTGCCCTTGGGGAGCT	0.488													28	118					1.88708e-17	2.40037e-17	1	0	A	83770026	C	A	83770026	3	1	76	1	0	0	0	0	1	0	0	0	14085	680	24	4	1261	4	SEC31A	4	83770026	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	6826151	83770026	107384250	35	14375											
ALPK1	80216	broad.mit.edu	37	chr4	113359713	113359713	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtggagcgacagatgaccGcacagcactatgtgacagaa	14	6	12	9	2	0	4	0	2	0	2	0	6	0	5	1	1	2	2	1	1	2	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr4:113359713G>C	ENST00000458497.1	+	13	3541	c.3262G>C	c.(3262-3264)Gca>Cca	p.A1088P	ALPK1_ENST00000177648.9_Missense_Mutation_p.A1088P|ALPK1_ENST00000504176.2_Missense_Mutation_p.A1010P	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1088	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACAGATGACCGCACAGCACTA	0.428													39	151					0	0	0	0	C	113359713	G	C	113359713	3	2	76	1	0	0	0	0	1	0	0	0	544	1087	38	3	3304	3	ALPK1	4	113359713	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	29589687	113359713	77794563	36	14376											
PCDH10	57575	broad.mit.edu	37	chr4	134071805	134071805	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagctacttctccctggaCgtgcagacccagggggatgg	9	7	13	12	1	1	1	0	0	1	1	2	3	1	3	2	4	4	2	2	4	2	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr4:134071805C>T	ENST00000264360.4	+	1	1336	c.510C>T	c.(508-510)gaC>gaT	p.D170D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	170	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCTCCCTGGACGTGCAGACCC	0.637													20	101					0	0	0	0	T	134071805	C	T	134071805	2	4	76	1	0	0	0	0	0	0	0	1	11578	535	19	1		1	PCDH10	4	134071805	Silent	SNP	C	TCGA-CN-5355-01A-01D-1434-08	20712092	134071805	57082471	37	14377											
GYPE	2996	broad.mit.edu	37	chr4	144826671	144826671	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatacatcctgagatcaCgagctggctcctgaagttag	10	11	9	11	1	1	2	1	2	0	1	4	4	4	2	3	1	2	3	3	1	3	3			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr4:144826671C>T	ENST00000358615.4	-	0	41				GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398													4	81					0	0	0	0	T	144826671	C	T	144826671	1	4	76	1	0	0	0	0	0	0	0	0	6961	551	19	1		1	GYPE	4	144826671	Translation_Start_Site	SNP	C	TCGA-CN-5355-01A-01D-1434-08	10754866	144826671	46327605	38	14378											
CDH9	1007	broad.mit.edu	37	chr5	26988326	26988326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accgtcatcttttgtcagacCcgctatctttttgcttgata	7	17	6	11	2	4	2	2	1	2	1	4	2	4	2	2	0	1	2	2	0	2	7			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:26988326C>G	ENST00000231021.4	-	2	287	c.115G>C	c.(115-117)Ggt>Cgt	p.G39R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	39					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTGTCAGACCCGCTATCTTT	0.393													32	73					0	0	0	0	G	26988326	C	G	26988326	3	3	76	1	0	0	0	0	1	0	0	0	3146	623	22	4	2298	4	CDH9	5	26988326	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08		26988326	153926934	39	14379											
ISL1	3670	broad.mit.edu	37	chr5	50687247	50687247	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacttcgccttgcagagtgAcatagatcagcctgcttttc	8	12	9	12	2	1	3	1	1	0	2	3	4	1	3	2	0	3	2	2	0	1	5			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:50687247A>T	ENST00000230658.7	+	5	1490	c.905A>T	c.(904-906)gAc>gTc	p.D302V	ISL1_ENST00000511384.1_Missense_Mutation_p.D279V|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	302	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TTGCAGAGTGACATAGATCAG	0.498													25	77					0	0	0	0	T	50687247	A	T	50687247	3	4	76	1	0	0	0	0	1	0	0	0	7909	275	10	5	923	5	ISL1	5	50687247	Missense_Mutation	SNP	A	TCGA-CN-5355-01A-01D-1434-08	23698921	50687247	130228013	40	14380											
ESM1	11082	broad.mit.edu	37	chr5	54275232	54275232	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaacttcttctctcacAatattgccatctccagatgc	10	14	3	14	0	5	1	2	0	3	1	7	1	5	1	2	0	3	0	2	0	3	5			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:54275232A>G	ENST00000381405.4	-	3	628	c.483T>C	c.(481-483)atT>atC	p.I161I	ESM1_ENST00000381403.4_Silent_p.I111I|ESM1_ENST00000598310.1_5'UTR	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	161					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			CTTCTCTCACAATATTGCCAT	0.433													19	134					0	0	0	0	G	54275232	A	G	54275232	2	3	76	1	0	0	0	0	0	0	0	1	5290	126	5	5		5	ESM1	5	54275232	Silent	SNP	A	TCGA-CN-5355-01A-01D-1434-08	3587985	54275232	126640028	41	14381											
FBN2	2201	broad.mit.edu	37	chr5	127670537	127670537	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtcacattcattgacatCtagaaaatttattttcaata	15	16	4	6	0	4	2	3	1	1	1	4	2	4	2	0	1	0	0	0	1	7	9			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:127670537C>A	ENST00000508053.1	-	37	4948		c.e37-1		FBN2_ENST00000507835.1_Splice_Site|FBN2_ENST00000262464.4_Splice_Site|FBN2_ENST00000508989.1_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATTGACATCTAGAAAATTT	0.348													4	102					0.184627	0.189392	1	0	A	127670537	C	A	127670537	5	1	76	1	0	0	0	0	0	0	1	0	5748	927	32	2	4905	2	FBN2	5	127670537	Splice_Site	SNP	C	TCGA-CN-5355-01A-01D-1434-08	73395305	127670537	53244723	42	14382											
PCDHB14	56122	broad.mit.edu	37	chr5	140604627	140604627	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccacctgtttgccctcaGgtcgctggactacgaggccc	5	9	12	15	2	1	0	1	0	0	0	2	2	1	1	4	4	2	2	4	4	1	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:140604627G>C	ENST00000239449.4	+	1	1550	c.1550G>C	c.(1549-1551)aGg>aCg	p.R517T	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R364T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		517	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGCCCTCAGGTCGCTGGAC	0.682													20	153					0	0	0	0	C	140604627	G	C	140604627	3	2	76	1	0	0	0	0	1	0	0	0	11610	1000	35	4	1552	4	PCDHB14	5	140604627	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	12934090	140604627	40310633	43	14383											
FAT2	2196	broad.mit.edu	37	chr5	150885275	150885275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcccagctcggctgaggcGcatacccacccccttgtagc	6	6	12	17	2	0	1	0	1	0	0	1	1	0	1	4	3	3	4	4	3	2	3			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:150885275G>A	ENST00000261800.5	-	23	12913	c.12901C>T	c.(12901-12903)Cgc>Tgc	p.R4301C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4301					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGCTGAGGCGCATACCCACC	0.667													4	73					0	0	0	0	A	150885275	G	A	150885275	3	1	76	1	0	0	0	0	1	0	0	0	5735	1087	38	1	152	1	FAT2	5	150885275	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	10280648	150885275	30029985	44	14384											
C5orf54	63920	broad.mit.edu	37	chr5	159821393	159821393	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaggtgaattttaaactCtttattttcaaagccatcaa	13	16	5	7	0	3	1	2	1	1	0	3	1	3	1	1	1	3	1	1	1	7	7			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:159821393C>A	ENST00000408953.3	-	2	1612	c.1105G>T	c.(1105-1107)Gag>Tag	p.E369*	C5orf54_ENST00000523213.1_Nonsense_Mutation_p.E369*	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	369										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						attttaaactctttattttca	0.353													20	80					3.51602e-12	4.20336e-12	1	0	A	159821393	C	A	159821393	4	1	76	1	0	0	0	0	0	1	0	0	2331	922	32	2	683	2	C5orf54	5	159821393	Nonsense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	8936118	159821393	21093867	45	14385											
ATP10B	23120	broad.mit.edu	37	chr5	159992486	159992486	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagtgaactctgggatcGgcgatggctgctcctctttg	5	12	14	10	2	3	1	1	1	2	0	5	3	4	2	1	4	2	2	1	4	1	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:159992486G>T	ENST00000327245.5	-	26	5206	c.4360C>A	c.(4360-4362)Cga>Aga	p.R1454R		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1454					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTGGGATCGGCGATGGCTG	0.527													37	100					1.42033e-22	1.85109e-22	1	0	T	159992486	G	T	159992486	2	4	76	1	0	0	0	0	0	0	0	1	1121	1124	39	3		3	ATP10B	5	159992486	Silent	SNP	G	TCGA-CN-5355-01A-01D-1434-08	171093	159992486	20922774	46	14386											
GRM6	2916	broad.mit.edu	37	chr5	178413301	178413301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggaagagcctgcgggCggcacagaccgcggccccag	8	1	16	16	4	0	2	0	0	0	2	0	3	0	3	5	4	2	1	5	4	1	0	rs150850494		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:178413301C>T	ENST00000231188.5	-	8	2132	c.1954G>A	c.(1954-1956)Gcc>Acc	p.A652T	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.A652T	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	652					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGCCTGCGGGCGGCACAGACC	0.642													4	21					0	0	0	0	T	178413301	C	T	178413301	3	4	76	1	0	0	0	0	1	0	0	0	6851	768	27	1	691	1	GRM6	5	178413301	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	18420815	178413301	2501959	47	14387											
MDC1	9656	broad.mit.edu	37	chr6	30680344	30680344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccactgggagctcttcctCctccacgtctgtgtcactgt	4	14	8	15	1	3	0	1	0	2	0	7	1	7	1	4	1	1	1	4	1	0	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr6:30680344C>T	ENST00000376406.3	-	5	2022	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	MDC1_ENST00000376405.2_Missense_Mutation_p.E459K|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	459	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AGCTCTTCCTCCTCCACGTCT	0.493								Other conserved DNA damage response genes					35	133					0	0	0	0	T	30680344	C	T	30680344	3	4	76	1	0	0	0	0	1	0	0	0	9472	864	30	2	4938	2	MDC1	6	30680344	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08		30680344	140434723	48	14388											
BTBD9	114781	broad.mit.edu	37	chr6	38256211	38256211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcacactggcacaatcagCaattgttgcaacattctcca	14	10	5	12	0	3	0	2	0	1	0	4	0	3	0	1	1	3	4	1	1	4	3			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr6:38256211C>A	ENST00000481247.1	-	8	1442	c.1291G>T	c.(1291-1293)Gct>Tct	p.A431S	BTBD9_ENST00000408958.1_Missense_Mutation_p.A363S|BTBD9_ENST00000403056.1_Missense_Mutation_p.A431S|BTBD9_ENST00000314100.6_Missense_Mutation_p.A363S|BTBD9_ENST00000419706.2_Missense_Mutation_p.A401S	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	431					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GCACAATCAGCAATTGTTGCA	0.428													18	75					5.35267e-07	6.0791e-07	1	0	A	38256211	C	A	38256211	3	1	76	1	0	0	0	0	1	0	0	0	1557	710	25	4	563	4	BTBD9	6	38256211	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	7575867	38256211	132858856	49	14389											
FOXP4	116113	broad.mit.edu	37	chr6	41565600	41565600	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccagcagcctgctgcccCtcagccacgatgacgtgggt	6	6	12	17	3	1	1	1	1	0	0	1	2	1	1	6	1	5	2	6	1	0	0			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr6:41565600C>A	ENST00000373060.1	+	16	2265	c.1807C>A	c.(1807-1809)Ctc>Atc	p.L603I	FOXP4_ENST00000373063.3_Missense_Mutation_p.L590I|FOXP4_ENST00000409208.1_Missense_Mutation_p.L591I|FOXP4_ENST00000373057.3_Missense_Mutation_p.L601I|FOXP4_ENST00000307972.4_Missense_Mutation_p.L603I	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	603					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCTGCTGCCCCTCAGCCACGA	0.706											OREG0004068	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	13					0.115264	0.119784	1	0	A	41565600	C	A	41565600	3	1	76	1	0	0	0	0	1	0	0	0	6076	681	24	4	1865	4	FOXP4	6	41565600	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	3309389	41565600	129549467	50	14390											
TTK	7272	broad.mit.edu	37	chr6	80720550	80720550	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtaatgtcaaaaaaagtaaAcaacttcttcaaaaagctgt	19	10	6	6	0	3	0	2	0	1	0	3	0	3	0	0	1	3	3	0	1	9	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr6:80720550A>G	ENST00000509894.1	+	5	1318	c.489A>G	c.(487-489)aaA>aaG	p.K163K	TTK_ENST00000369798.2_Silent_p.K163K|TTK_ENST00000230510.3_Silent_p.K163K			P33981	TTK_HUMAN	TTK protein kinase	163					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AAAAAAGTAAACAACTTCTTC	0.398													21	51					0	0	0	0	G	80720550	A	G	80720550	2	3	76	1	0	0	0	0	0	0	0	1	16816	40	2	5		5	TTK	6	80720550	Silent	SNP	A	TCGA-CN-5355-01A-01D-1434-08	39154950	80720550	90394517	51	14391											
MICAL1	64780	broad.mit.edu	37	chr6	109773738	109773738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggacgaatttacctcctgCagccgagataaggacgtcaa	13	7	11	10	3	1	1	1	0	0	1	2	5	2	3	3	2	3	1	3	2	4	3			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr6:109773738C>T	ENST00000368952.4	-	5	999	c.709G>A	c.(709-711)Gca>Aca	p.A237T	MICAL1_ENST00000358807.3_Missense_Mutation_p.A218T|MICAL1_ENST00000358577.3_Missense_Mutation_p.A218T			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	218					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TTACCTCCTGCAGCCGAGATA	0.557													15	43					0	0	0	0	T	109773738	C	T	109773738	3	4	76	1	0	0	0	0	1	0	0	0	9638	710	25	4	2635	4	MICAL1	6	109773738	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	29053188	109773738	61341329	52	14392											
GRM1	2911	broad.mit.edu	37	chr6	146755141	146755141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accaaacagccgtcatcaagCccctcactaaaagttaccaa	16	6	4	15	1	3	0	3	0	0	0	3	0	3	0	5	0	4	1	5	0	6	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr6:146755141C>A	ENST00000361719.2	+	9	3264	c.2794C>A	c.(2794-2796)Ccc>Acc	p.P932T	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P932T|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	932					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGTCATCAAGCCCCTCACTAA	0.557													33	136					7.11191e-15	8.76584e-15	1	0	A	146755141	C	A	146755141	3	1	76	1	0	0	0	0	1	0	0	0	6846	739	26	4	2889	4	GRM1	6	146755141	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	36981403	146755141	24359926	53	14393											
ZNF12	7559	broad.mit.edu	37	chr7	6731084	6731084	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaataactttccacattCattacattcgtaaggtttct	12	15	6	8	1	2	1	1	0	1	1	4	2	3	1	1	2	2	2	1	2	4	7			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr7:6731084C>A	ENST00000405858.1	-	5	2030	c.1489G>T	c.(1489-1491)Gaa>Taa	p.E497*	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.E459*|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.E423*	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	497					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTTCCACATTCATTACATTCG	0.398													48	180					2.65591e-33	3.60931e-33	1	0	A	6731084	C	A	6731084	4	1	76	1	0	0	0	0	0	1	0	0	17813	835	29	2	608	2	ZNF12	7	6731084	Nonsense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08		6731084	152407579	54	14394											
ABCA13	154664	broad.mit.edu	37	chr7	48413965	48413965	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccttctttcgacaaccgccTttggacaaggggtatttttt	7	15	9	10	2	1	0	0	0	1	0	2	2	1	1	3	3	1	1	3	3	3	7			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr7:48413965T>G	ENST00000435803.1	+	34	11179	c.11155T>G	c.(11155-11157)Ttt>Gtt	p.F3719V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3719					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						GACAACCGCCTTTGGACAAGG	0.413													5	19					0	0	0	0	G	48413965	T	G	48413965	3	3	76	1	0	0	0	0	1	0	0	0	31	1609	56	5	11118	5	ABCA13	7	48413965	Missense_Mutation	SNP	T	TCGA-CN-5355-01A-01D-1434-08	41682881	48413965	110724698	55	14395											
EPHB4	2050	broad.mit.edu	37	chr7	100414856	100414856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcctggccgaagggccCgtagccggcctcagagcgcg	6	6	15	14	5	1	1	1	0	0	1	2	2	2	1	5	3	2	2	5	3	2	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr7:100414856C>T	ENST00000358173.3	-	8	2014	c.1546G>A	c.(1546-1548)Ggg>Agg	p.G516R	EPHB4_ENST00000477446.1_Intron|EPHB4_ENST00000360620.3_Missense_Mutation_p.G516R	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	516	Fibronectin type-III 2.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCGAAGGGCCCGTAGCCGGCC	0.657													7	31					0	0	0	0	T	100414856	C	T	100414856	3	4	76	1	0	0	0	0	1	0	0	0	5215	652	23	1	1457	1	EPHB4	7	100414856	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	52000891	100414856	58723807	56	14396											
IMMP2L	83943	broad.mit.edu	37	chr7	110303688	110303688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctgtactggtaagcgCtctggaggaagaacagattc	10	11	11	9	1	3	2	0	0	3	2	5	4	3	4	0	3	3	3	0	3	4	3			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr7:110303688C>A	ENST00000405709.2	-	6	940	c.498G>T	c.(496-498)gaG>gaT	p.E166D	IMMP2L_ENST00000452895.1_Missense_Mutation_p.E166D|IMMP2L_ENST00000331762.3_Missense_Mutation_p.E166D|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000415362.1_Missense_Mutation_p.E166D|IMMP2L_ENST00000450877.1_Missense_Mutation_p.E148D	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	166					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity	p.E166E(1)		endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CTGGTAAGCGCTCTGGAGGAA	0.493													33	110					2.08457e-15	2.58942e-15	1	0	A	110303688	C	A	110303688	3	1	76	1	0	0	0	0	1	0	0	0	7770	796	28	4	33	4	IMMP2L	7	110303688	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	9888832	110303688	48834975	57	14397											
AHCYL2	23382	broad.mit.edu	37	chr7	129053482	129053482	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttggaccgtatgaagaatAgctgcatcgtttgtaacatg	12	12	10	7	2	0	2	0	1	0	1	1	3	0	3	1	1	3	5	1	1	5	5			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr7:129053482A>G	ENST00000325006.3	+	12	1468	c.1414A>G	c.(1414-1416)Agc>Ggc	p.S472G	AHCYL2_ENST00000474594.1_Missense_Mutation_p.S369G|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S369G|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S471G|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S370G|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S391G	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	472					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TATGAAGAATAGCTGCATCGT	0.428													23	104					0	0	0	0	G	129053482	A	G	129053482	3	3	76	1	0	0	0	0	1	0	0	0	411	420	15	5	1582	5	AHCYL2	7	129053482	Missense_Mutation	SNP	A	TCGA-CN-5355-01A-01D-1434-08	18749794	129053482	30085181	58	14398											
PREX2	80243	broad.mit.edu	37	chr8	69028102	69028102	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagcaaacgggtatgtttTaatgtagcaggagatgaaca	16	9	11	5	1	0	2	0	1	0	1	0	3	0	2	0	2	5	5	0	2	6	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr8:69028102T>C	ENST00000288368.4	+	26	3538	c.3261T>C	c.(3259-3261)ttT>ttC	p.F1087F		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1087					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGGTATGTTTTAATGTAGCAG	0.383													33	163					0	0	0	0	C	69028102	T	C	69028102	2	2	76	1	0	0	0	0	0	0	0	1	12557	1751	61	5		5	PREX2	8	69028102	Silent	SNP	T	TCGA-CN-5355-01A-01D-1434-08		69028102	77335920	59	14399											
RUNX1T1	862	broad.mit.edu	37	chr8	93017415	93017415	+	Frame_Shift_Del	DEL	G	G	-																															gaggagtcaacaggtgaggtGgtgctggcatccagaagcag																										TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr8:93017415delG	ENST00000523629.1	-	6	1123	c.669delC	c.(667-669)acfs	p.T224fs	RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.T235fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.T197fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.T187fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.T224fs|RUNX1T1_ENST00000521553.1_Frame_Shift_Del_p.T187fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.T187fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.T187fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.T197fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	224					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T223T(1)|p.T186T(1)|p.T234T(1)		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)			CAGGTGAGGTGGTGCTGGCAT	0.592													41	197	---	---	---	---					-	93017415	G	-	93017415	7	5	76	1	0	1	0	1	0	0	0	0	13832	1335	47	0	1173	0	RUNX1T1	8	93017415	Frame_Shift_Del	DEL	G	TCGA-CN-5355-01A-01D-1434-08	23989313	93017415	53346607	60	14400											
SDC2	6383	broad.mit.edu	37	chr8	97614673	97614673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgacaacatctcgaccacttCcaaagatactgttgactagt	13	11	6	11	1	1	3	0	2	1	1	3	4	2	3	2	0	2	1	2	0	4	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr8:97614673C>T	ENST00000302190.4	+	3	1144	c.223C>T	c.(223-225)Cca>Tca	p.P75S	SDC2_ENST00000518385.1_Missense_Mutation_p.P39S|SDC2_ENST00000522911.1_Missense_Mutation_p.P46S|SDC2_ENST00000519914.1_Missense_Mutation_p.P46S	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	75						integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	TCGACCACTTCCAAAGATACT	0.448													36	148					0	0	0	0	T	97614673	C	T	97614673	3	4	76	1	0	0	0	0	1	0	0	0	14039	855	30	2	233	2	SDC2	8	97614673	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	4597258	97614673	48749349	61	14401											
CSMD3	114788	broad.mit.edu	37	chr8	114111056	114111056	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatttgaaaatcagtaaaTatgagtgaaattgtgtcccc	14	13	7	7	0	1	3	1	3	0	0	3	3	3	3	3	0	0	1	3	0	6	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr8:114111056T>C	ENST00000297405.5	-	5	1090	c.846A>G	c.(844-846)atA>atG	p.I282M	CSMD3_ENST00000343508.3_Missense_Mutation_p.I242M|CSMD3_ENST00000455883.2_Missense_Mutation_p.I282M|CSMD3_ENST00000352409.3_Missense_Mutation_p.I282M|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	282	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATCAGTAAATATGAGTGAAA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	118					0	0	0	0	C	114111056	T	C	114111056	3	2	76	1	0	0	0	0	1	0	0	0	3978	1396	49	5	10545	5	CSMD3	8	114111056	Missense_Mutation	SNP	T	TCGA-CN-5355-01A-01D-1434-08	16496383	114111056	32252966	62	14402											
ADCY8	114	broad.mit.edu	37	chr8	131793033	131793033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taacccccgtgctgtccattCggcttgccaggttcacagtt	6	12	9	14	2	1	0	1	0	0	0	3	0	2	0	4	2	3	4	4	2	1	5			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr8:131793033C>T	ENST00000286355.5	-	18	5451	c.3359G>A	c.(3358-3360)cGa>cAa	p.R1120Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R989Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1120					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTGTCCATTCGGCTTGCCAG	0.567										HNSCC(32;0.087)			64	304					0	0	0	0	T	131793033	C	T	131793033	3	4	76	1	0	0	0	0	1	0	0	0	300	884	31	1	400	1	ADCY8	8	131793033	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	17681977	131793033	14570989	63	14403											
TMEM71	137835	broad.mit.edu	37	chr8	133764056	133764056	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagttctccttatacataaCgctggtctgggatgggttca	9	14	10	8	1	3	0	1	0	2	0	4	1	3	1	1	3	2	3	1	3	4	6	rs111461300	byFrequency	TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr8:133764056C>A	ENST00000356838.3	-	4	431	c.289G>T	c.(289-291)Gtt>Ttt	p.V97F	TMEM71_ENST00000523829.1_Missense_Mutation_p.V97F|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.V97F	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	97						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTATACATAACGCTGGTCTGG	0.398													54	233					3.21867e-24	4.26474e-24	1	0	A	133764056	C	A	133764056	3	1	76	1	0	0	0	0	1	0	0	0	16294	536	19	3	626	3	TMEM71	8	133764056	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	1971023	133764056	12599966	64	14404											
FAM135B	51059	broad.mit.edu	37	chr8	139164635	139164635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggcctctgaccaggcgaCggagcttggctcactctcaa	7	8	12	14	3	3	1	2	1	2	0	5	3	3	2	2	4	1	2	2	4	1	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr8:139164635C>A	ENST00000395297.1	-	13	2253	c.2083G>T	c.(2083-2085)Gtc>Ttc	p.V695F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	695										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GACCAGGCGACGGAGCTTGGC	0.552										HNSCC(54;0.14)			30	97					1.32181e-22	1.73692e-22	1	0	A	139164635	C	A	139164635	3	1	76	1	0	0	0	0	1	0	0	0	5490	536	19	3	2169	3	FAM135B	8	139164635	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	5400579	139164635	7199387	65	14405											
TPD52L3	89882	broad.mit.edu	37	chr9	6330998	6330998	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatcttcaataaatacacGttaaatcaaggaaggaatta	18	12	6	5	1	3	1	2	1	1	0	3	3	3	3	0	2	1	1	0	2	10	6			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr9:6330998G>A	ENST00000314556.3	+	2	582	c.390G>A	c.(388-390)acG>acA	p.T130T		NM_001001874.2	NP_001001874.1	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	0							protein binding	p.T130T(2)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		ATAAATACACGTTAAATCAAG	0.313													23	118					0	0	0	0	A	6330998	G	A	6330998	2	1	76	1	0	0	0	0	0	0	0	1	16495	1132	40	1		1	TPD52L3	9	6330998	Silent	SNP	G	TCGA-CN-5355-01A-01D-1434-08		6330998	134882433	66	14406											
CNTLN	54875	broad.mit.edu	37	chr9	17236462	17236462	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacagactagttataaaaaAtctggaggaggaaaacaaga	22	6	9	4	0	1	2	0	0	1	2	1	5	1	5	0	3	2	1	0	3	9	3			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr9:17236462A>T	ENST00000380647.3	+	5	809	c.725A>T	c.(724-726)aAt>aTt	p.N242I	CNTLN_ENST00000380641.4_Missense_Mutation_p.N242I|CNTLN_ENST00000425824.1_Missense_Mutation_p.N242I|CNTLN_ENST00000262360.5_Missense_Mutation_p.N242I			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	242						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTTATAAAAAATCTGGAGGAG	0.378													30	142					0	0	0	0	T	17236462	A	T	17236462	3	4	76	1	0	0	0	0	1	0	0	0	3669	101	4	5	743	5	CNTLN	9	17236462	Missense_Mutation	SNP	A	TCGA-CN-5355-01A-01D-1434-08	10905464	17236462	123976969	67	14407											
C9orf135	138255	broad.mit.edu	37	chr9	72472845	72472845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaccggattgcctgccaCaggttttggagctgtctttc	5	13	12	11	1	2	0	1	0	1	0	3	2	2	2	3	4	3	2	3	4	0	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr9:72472845C>T	ENST00000377197.3	+	4	488	c.401C>T	c.(400-402)aCa>aTa	p.T134I	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.T134I	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	134						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTGCCTGCCACAGGTTTTGGA	0.368													71	129					0	0	0	0	T	72472845	C	T	72472845	3	4	76	1	0	0	0	0	1	0	0	0	2483	478	17	4	415	4	C9orf135	9	72472845	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	55236383	72472845	68740586	68	14408											
PCSK5	5125	broad.mit.edu	37	chr9	78790192	78790192	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaatggaatggaatggaatCgaatcgaatcgaatcgaata	17	8	12	4	4	0	0	0	0	0	0	4	8	0	4	0	4	0	0	0	4	9	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr9:78790192C>T	ENST00000376767.3	+	14	2559	c.2047C>T	c.(2047-2049)Cga>Tga	p.R683*	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373													5	13					0	0	0	0	T	78790192	C	T	78790192	4	4	76	1	0	0	0	0	0	1	0	0	11674	899	31	1		1	PCSK5	9	78790192	Nonsense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	6317347	78790192	62423239	69	14409											
ACTL7B	10880	broad.mit.edu	37	chr9	111617803	111617803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggggaggatcttcatggcGgtgcggaagatgtactccca	8	9	15	9	3	2	1	1	0	1	1	4	4	3	4	1	6	2	1	1	6	2	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr9:111617803G>A	ENST00000374667.3	-	1	1436	c.408C>T	c.(406-408)acC>acT	p.T136T		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	136						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCTTCATGGCGGTGCGGAAGA	0.622													32	60					0	0	0	0	A	111617803	G	A	111617803	2	1	76	1	0	0	0	0	0	0	0	1	201	1103	39	1		1	ACTL7B	9	111617803	Silent	SNP	G	TCGA-CN-5355-01A-01D-1434-08	32827611	111617803	29595628	70	14410											
SCAI	286205	broad.mit.edu	37	chr9	127765428	127765428	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaaggtatatagctggcTgaaggttggtttgtagagca	12	12	14	3	0	0	3	0	1	0	2	0	3	0	3	0	4	2	7	0	4	7	7			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr9:127765428T>A	ENST00000336505.5	-	11	1088	c.1030A>T	c.(1030-1032)Agc>Tgc	p.S344C	SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.S367C	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	344					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TATAGCTGGCTGAAGGTTGGT	0.383													193	340					0	0	0	0	A	127765428	T	A	127765428	3	1	76	1	0	0	0	0	1	0	0	0	13955	1580	55	5	822	5	SCAI	9	127765428	Missense_Mutation	SNP	T	TCGA-CN-5355-01A-01D-1434-08	16147625	127765428	13448003	71	14411											
NOTCH1	4851	broad.mit.edu	37	chr9	139401756	139401756	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctccgtgcagcggcccttaCcctgagtgccccgtgggcag	4	7	13	17	3	0	1	0	1	0	0	1	1	1	1	6	2	4	2	6	2	1	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr9:139401756C>T	ENST00000277541.6	-	22	3719		c.e22+1			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.?(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGGCCCTTACCCTGAGTGCC	0.692			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			24	49					0	0	0	0	T	139401756	C	T	139401756	5	4	76	1	0	0	0	0	0	0	1	0	10617	521	18	4	4075	4	NOTCH1	9	139401756	Splice_Site	SNP	C	TCGA-CN-5355-01A-01D-1434-08	11636328	139401756	1811675	72	14412											
RASSF4	83937	broad.mit.edu	37	chr10	45480280	45480280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcccctggaggaggcagaGgaggccccccagctgatgcg	7	3	18	13	1	0	2	0	1	0	1	0	5	0	5	5	6	2	2	5	6	0	0			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr10:45480280G>A	ENST00000374417.2	+	5	435	c.301G>A	c.(301-303)Gga>Aga	p.G101R	RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000334940.6_Silent_p.E140E|RASSF4_ENST00000340258.4_Silent_p.E131E			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	101					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGGAGGCAGAGGAGGCCCCCC	0.667													26	205					0	0	0	0	A	45480280	G	A	45480280	3	1	76	1	0	0	0	0	1	0	0	0	13170	991	35	4	411	4	RASSF4	10	45480280	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08		45480280	90054467	73	14413											
BICC1	80114	broad.mit.edu	37	chr10	60546842	60546842	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagcagaaaaaagcaaccagGtggtttgtcttttcacatga	15	10	9	7	0	2	2	1	1	1	1	2	2	2	2	1	2	3	3	1	2	5	3			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr10:60546842G>C	ENST00000373886.3	+	5	550		c.e5+1			NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)						multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AAGCAACCAGGTGGTTTGTCT	0.353													5	72					0	0	0	0	C	60546842	G	C	60546842	5	2	76	1	0	0	0	0	0	0	1	0	1432	1275	44	4	565	4	BICC1	10	60546842	Splice_Site	SNP	G	TCGA-CN-5355-01A-01D-1434-08	15066562	60546842	74987905	74	14414											
BTAF1	9044	broad.mit.edu	37	chr10	93748998	93748998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtaaacgacagcaggtcCaaatgacagttacagagacc	17	6	9	9	1	0	2	0	1	0	1	1	4	1	2	2	1	3	3	2	1	5	3			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr10:93748998C>A	ENST00000265990.6	+	20	2823	c.2515C>A	c.(2515-2517)Caa>Aaa	p.Q839K	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	839					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACAGCAGGTCCAAATGACAGT	0.418													10	78					7.48243e-07	8.43763e-07	1	0	A	93748998	C	A	93748998	3	1	76	1	0	0	0	0	1	0	0	0	1544	595	21	4	2593	4	BTAF1	10	93748998	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	33202156	93748998	41785749	75	14415											
VWA2	340706	broad.mit.edu	37	chr10	116045935	116045935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggtctggagcctcgatgGcattcccttccgtggtggcc	3	11	13	14	2	1	0	0	0	1	0	4	2	3	1	5	5	1	1	5	5	0	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr10:116045935G>A	ENST00000603594.1	+	11	1556	c.1235G>A	c.(1234-1236)gGc>gAc	p.G412D	VWA2_ENST00000392982.3_Missense_Mutation_p.G412D	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	412	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGCCTCGATGGCATTCCCTTC	0.697													4	133					0	0	0	0	A	116045935	G	A	116045935	3	1	76	1	0	0	0	0	1	0	0	0	17335	1203	42	4	1273	4	VWA2	10	116045935	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	22296937	116045935	19488812	76	14416											
DMBT1	1755	broad.mit.edu	37	chr10	124399561	124399561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcctctcctaggcagaCaatgacaccatcgactattc	10	9	7	15	1	1	2	0	1	1	1	4	3	1	2	4	1	1	1	4	1	3	3			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr10:124399561C>A	ENST00000368909.3	+	52	6667	c.6561C>A	c.(6559-6561)gaC>gaA	p.D2187E	DMBT1_ENST00000368955.3_Missense_Mutation_p.D2177E|DMBT1_ENST00000359586.6_Missense_Mutation_p.D907E|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1559E|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1559E|DMBT1_ENST00000338354.3_Missense_Mutation_p.D2187E|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2177E	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2187	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTAGGCAGACAATGACACCA	0.527													3	75					0.004672	0.00498556	1	0	A	124399561	C	A	124399561	3	1	76	1	0	0	0	0	1	0	0	0	4614	477	17	4	6767	4	DMBT1	10	124399561	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	8353626	124399561	11135186	77	14417											
OR52E4	390081	broad.mit.edu	37	chr11	5905705	5905705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catagtctacaccagcccatGttctacttcctggccatgtt	8	13	6	14	0	2	0	0	0	2	0	3	0	3	0	4	1	3	2	4	1	3	6			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:5905705G>T	ENST00000316987.2	+	1	205	c.183G>T	c.(181-183)atG>atT	p.M61I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGCCCATGTTCTACTTCC	0.433													71	251					4.98926e-31	6.72282e-31	1	0	T	5905705	G	T	5905705	3	4	76	1	0	0	0	0	1	0	0	0	11187	1377	48	4	185	4	OR52E4	11	5905705	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08		5905705	129100811	78	14418											
CALCA	796	broad.mit.edu	37	chr11	14989331	14989331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccacaccccctgatctGctcagcaagcctgccagccg	8	7	7	19	1	3	1	2	1	1	0	3	1	3	1	6	0	5	2	6	0	1	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:14989331G>T	ENST00000361010.3	-	4	371	c.297C>A	c.(295-297)agC>agA	p.S99R	CALCA_ENST00000486207.1_Missense_Mutation_p.S99R|CALCB_ENST00000523376.1_Intron	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	99					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	CCCCTGATCTGCTCAGCAAGC	0.542													27	81					3.01185e-09	3.52121e-09	1	0	T	14989331	G	T	14989331	3	4	76	1	0	0	0	0	1	0	0	0	2600	1310	46	4	93	4	CALCA	11	14989331	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	9083626	14989331	120017185	79	14419											
DEPDC7	91614	broad.mit.edu	37	chr11	33054967	33054967	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaattctataagtgtcAcccagacatctttattgagc	12	13	7	9	0	4	2	2	1	2	1	4	2	4	2	1	1	1	0	1	1	4	6			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:33054967A>T	ENST00000311388.3	+	9	1851	c.1475A>T	c.(1474-1476)cAc>cTc	p.H492L	DEPDC7_ENST00000241051.3_Missense_Mutation_p.H501L	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	501					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TATAAGTGTCACCCAGACATC	0.299													35	108					0	0	0	0	T	33054967	A	T	33054967	3	4	76	1	0	0	0	0	1	0	0	0	4481	159	6	5	1586	5	DEPDC7	11	33054967	Missense_Mutation	SNP	A	TCGA-CN-5355-01A-01D-1434-08	18065636	33054967	101951549	80	14420											
LRRC4C	57689	broad.mit.edu	37	chr11	40135934	40135934	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgttttagatttgagtctCttgtacattgtctttagagt	9	20	8	4	0	2	3	0	1	2	2	3	3	2	3	0	0	1	2	0	0	4	8			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:40135934C>G	ENST00000278198.2	-	2	3872	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q	LRRC4C_ENST00000530763.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E637Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	637					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATTTGAGTCTCTTGTACATTG	0.318													18	97					0	0	0	0	G	40135934	C	G	40135934	3	3	76	1	0	0	0	0	1	0	0	0	9072	922	32	2	17	2	LRRC4C	11	40135934	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	7080967	40135934	94870582	81	14421											
SLC43A3	29015	broad.mit.edu	37	chr11	57176684	57176684	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaagggagcctttgatgagGgtgaagatggggaactggag	11	8	19	3	0	0	5	0	4	0	1	0	8	0	8	1	5	2	0	1	5	3	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:57176684G>A	ENST00000395123.2	-	13	1639	c.1335C>T	c.(1333-1335)acC>acT	p.T445T	SLC43A3_ENST00000529554.1_Silent_p.T445T|SLC43A3_ENST00000352187.1_Silent_p.T445T|SLC43A3_ENST00000395124.1_Silent_p.T445T|SLC43A3_ENST00000533524.1_Silent_p.T458T|RP11-872D17.8_ENST00000529411.1_Silent_p.T89T	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	445					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CTTTGATGAGGGTGAAGATGG	0.567													45	168					0	0	0	0	A	57176684	G	A	57176684	2	1	76	1	0	0	0	0	0	0	0	1	14722	1219	43	4		4	SLC43A3	11	57176684	Silent	SNP	G	TCGA-CN-5355-01A-01D-1434-08	17040750	57176684	77829832	82	14422											
NADSYN1	55191	broad.mit.edu	37	chr11	71185480	71185480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaaccagaagggttgtGacggggaccgcctgtactac	9	7	14	11	2	0	2	0	1	0	1	0	3	0	3	4	4	3	2	4	4	4	3			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:71185480G>T	ENST00000319023.2	+	9	894	c.706G>T	c.(706-708)Gac>Tac	p.D236Y		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	236	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAAGGGTTGTGACGGGGACCG	0.557													18	132					5.45727e-16	6.83233e-16	1	0	T	71185480	G	T	71185480	3	4	76	1	0	0	0	0	1	0	0	0	10208	1290	45	2	740	2	NADSYN1	11	71185480	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	14008796	71185480	63821036	83	14423											
USP35	57558	broad.mit.edu	37	chr11	77921387	77921388	+	Frame_Shift_Ins	INS	-	-	C																															atcctggatgacgtctccatINSccccctgctgctccgcctgc																										TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:77921387_77921388insC	ENST00000529308.1	+	10	2747_2748	c.2486_2487insC	c.(2485-2487)accfs	p.T829fs	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Frame_Shift_Ins_p.T397fs|USP35_ENST00000526425.1_Frame_Shift_Ins_p.T560fs|USP35_ENST00000441408.2_Frame_Shift_Ins_p.T415fs	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	829					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GACGTCTCCATCCCCCTGCTGC	0.634													18	170	---	---	---	---					C	77921388	-	C	77921387	7	5	76	1	0	1	1	0	0	0	0	0	17162	1435	50	0	2520	0	USP35	11	77921387	Frame_Shift_Ins	INS	-	TCGA-CN-5355-01A-01D-1434-08	6735907	77921387	57085129	84	14424											
MTNR1B	4544	broad.mit.edu	37	chr11	92715080	92715080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctggtgcttcaggccCgcaggaaagccaagccagag	9	5	16	11	1	1	1	1	0	0	1	1	2	1	2	3	4	4	3	3	4	2	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:92715080C>T	ENST00000257068.2	+	2	697	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	231			R -> H (in dbSNP:rs8192553).		G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GCTTCAGGCCCGCAGGAAAGC	0.582													21	127					0	0	0	0	T	92715080	C	T	92715080	3	4	76	1	0	0	0	0	1	0	0	0	10022	652	23	1	697	1	MTNR1B	11	92715080	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	14793693	92715080	42291436	85	14425											
BCL9L	283149	broad.mit.edu	37	chr11	118779003	118779003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcctctgaatccagggatgGggtcccagcctctcgctgct	5	9	13	14	1	2	1	0	1	2	0	5	2	4	2	4	4	2	2	4	4	1	0			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:118779003G>A	ENST00000334801.3	-	2	1352	c.388C>T	c.(388-390)Cca>Tca	p.P130S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	130					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCCAGGGATGGGGTCCCAGCC	0.592													21	98					0	0	0	0	A	118779003	G	A	118779003	3	1	76	1	0	0	0	0	1	0	0	0	1386	1232	43	4	4139	4	BCL9L	11	118779003	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	26063923	118779003	16227513	86	14426											
OR8D4	338662	broad.mit.edu	37	chr11	123777296	123777296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaattattaggctgaatcGtcaacttcatacccccatgt	11	13	5	12	1	3	1	3	1	0	0	4	1	3	1	2	1	2	1	2	1	6	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:123777296G>A	ENST00000321355.2	+	1	188	c.158G>A	c.(157-159)cGt>cAt	p.R53H		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		AGGCTGAATCGTCAACTTCAT	0.408													58	282					0	0	0	0	A	123777296	G	A	123777296	3	1	76	1	0	0	0	0	1	0	0	0	11304	1145	40	1	160	1	OR8D4	11	123777296	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	4998293	123777296	11229220	87	14427											
IGSF9B	22997	broad.mit.edu	37	chr11	133815961	133815961	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcccagaccttacctgcaTactcagggtccacgtgcggc	7	8	11	15	2	1	1	1	0	0	1	2	1	2	1	4	2	5	1	4	2	2	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:133815961T>A	ENST00000321016.8	-	2	487	c.257A>T	c.(256-258)tAt>tTt	p.Y86F	IGSF9B_ENST00000533871.2_Missense_Mutation_p.Y86F			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	86	Ig-like 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTTACCTGCATACTCAGGGTC	0.612													4	9					0	0	0	0	A	133815961	T	A	133815961	3	1	76	1	0	0	0	0	1	0	0	0	7659	1406	49	5	3864	5	IGSF9B	11	133815961	Missense_Mutation	SNP	T	TCGA-CN-5355-01A-01D-1434-08	10038665	133815961	1190555	88	14428											
SLC6A12	6539	broad.mit.edu	37	chr12	306025	306025	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catagtcacagccttggggaAggcgatgaaggccagcccag	11	5	14	11	1	1	1	1	1	0	0	1	3	1	2	3	4	2	0	3	4	3	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr12:306025A>C	ENST00000428720.1	-	11	1842	c.1099T>G	c.(1099-1101)Ttc>Gtc	p.F367V	SLC6A12_ENST00000359674.4_Missense_Mutation_p.F367V|SLC6A12_ENST00000536824.1_Missense_Mutation_p.F367V|SLC6A12_ENST00000424061.2_Missense_Mutation_p.F367V|SLC6A12_ENST00000397296.2_Missense_Mutation_p.F367V	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	367					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCCTTGGGGAAGGCGATGAAG	0.582													14	73					0	0	0	0	C	306025	A	C	306025	3	2	76	1	0	0	0	0	1	0	0	0	14763	72	3	5	769	5	SLC6A12	12	306025	Missense_Mutation	SNP	A	TCGA-CN-5355-01A-01D-1434-08		306025	133545870	89	14429											
A2M	2	broad.mit.edu	37	chr12	9256907	9256907	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaggccatgctcatccgtGgtagcattggagtaatagtt	11	11	11	8	1	1	0	1	0	0	0	2	1	2	1	2	3	2	5	2	3	4	5			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr12:9256907G>A	ENST00000318602.7	-	11	1501	c.1194C>T	c.(1192-1194)acC>acT	p.T398T		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	398					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GCTCATCCGTGGTAGCATTGG	0.413													8	31					0	0	0	0	A	9256907	G	A	9256907	2	1	76	1	0	0	0	0	0	0	0	1	4	1335	47	4		4	A2M	12	9256907	Silent	SNP	G	TCGA-CN-5355-01A-01D-1434-08	8950882	9256907	124594988	90	14430											
ARID2	196528	broad.mit.edu	37	chr12	46244170	46244170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacagggccacaacctgttaCagttgtgaattctcagacat	12	11	8	10	0	1	2	1	1	1	1	2	2	1	2	2	1	3	2	2	1	4	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr12:46244170C>T	ENST00000334344.6	+	15	2436	c.2264C>T	c.(2263-2265)aCa>aTa	p.T755I	ARID2_ENST00000444670.1_Missense_Mutation_p.T365I|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.T606I	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	755					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAACCTGTTACAGTTGTGAAT	0.478			"N, S, F"		hepatocellular carcinoma								20	87					0	0	0	0	T	46244170	C	T	46244170	3	4	76	1	0	0	0	0	1	0	0	0	917	478	17	4	2322	4	ARID2	12	46244170	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	36987263	46244170	87607725	91	14431											
LRIG3	121227	broad.mit.edu	37	chr12	59274631	59274631	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaactcaaattggaacctttTattgccgactgtgtttctgg	10	15	8	8	1	2	0	1	0	1	0	2	2	2	1	2	2	3	1	2	2	4	5			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr12:59274631T>C	ENST00000320743.3	-	13	1819	c.1533A>G	c.(1531-1533)atA>atG	p.I511M	LRIG3_ENST00000379141.4_Missense_Mutation_p.I451M	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	511	Ig-like C2-type 1.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGGAACCTTTTATTGCCGACT	0.433			T	ROS1	NSCLC								69	196					0	0	0	0	C	59274631	T	C	59274631	3	2	76	1	0	0	0	0	1	0	0	0	9010	1744	61	5	1854	5	LRIG3	12	59274631	Missense_Mutation	SNP	T	TCGA-CN-5355-01A-01D-1434-08	13030461	59274631	74577264	92	14432											
TRHDE	29953	broad.mit.edu	37	chr12	73014920	73014920	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcaagttgcaacaacataTatcaagcttgggtggccgaa	15	8	10	8	1	1	0	1	0	0	0	1	1	1	0	1	2	5	4	1	2	8	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr12:73014920T>C	ENST00000261180.4	+	14	2463	c.2367T>C	c.(2365-2367)taT>taC	p.Y789Y		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	789					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAACAACATATATCAAGCTTG	0.313													25	82					0	0	0	0	C	73014920	T	C	73014920	2	2	76	1	0	0	0	0	0	0	0	1	16574	1413	49	5		5	TRHDE	12	73014920	Silent	SNP	T	TCGA-CN-5355-01A-01D-1434-08	13740289	73014920	60836975	93	14433											
TCP11L2	255394	broad.mit.edu	37	chr12	106717343	106717343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatggccaattttacaattAtgagtctcagaccgcacctt	12	12	6	11	1	1	2	1	1	1	1	2	2	1	2	3	1	1	1	3	1	4	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr12:106717343A>G	ENST00000546625.1	+	6	850	c.691A>G	c.(691-693)Atg>Gtg	p.M231V	TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000299045.3_Missense_Mutation_p.M231V|TCP11L2_ENST00000547153.1_Missense_Mutation_p.M231V			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	231										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TTTTACAATTATGAGTCTCAG	0.363													15	79					0	0	0	0	G	106717343	A	G	106717343	3	3	76	1	0	0	0	0	1	0	0	0	15809	449	16	5	709	5	TCP11L2	12	106717343	Missense_Mutation	SNP	A	TCGA-CN-5355-01A-01D-1434-08	33702423	106717343	27134552	94	14434											
TRPC4	7223	broad.mit.edu	37	chr13	38266248	38266248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagcaggaacaaaaaagtCaaataggaggctgtgtggca	17	5	13	6	0	1	0	1	0	0	0	1	2	1	2	0	4	3	4	0	4	6	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr13:38266248C>G	ENST00000379705.3	-	4	1979	c.1122G>C	c.(1120-1122)ttG>ttC	p.L374F	TRPC4_ENST00000426868.2_Missense_Mutation_p.L374F|TRPC4_ENST00000338947.5_Missense_Mutation_p.L201F|TRPC4_ENST00000358477.2_Missense_Mutation_p.L374F|TRPC4_ENST00000379681.3_Missense_Mutation_p.L374F|TRPC4_ENST00000379673.2_Missense_Mutation_p.L374F|TRPC4_ENST00000355779.2_Missense_Mutation_p.L374F|TRPC4_ENST00000447043.1_Missense_Mutation_p.L374F|TRPC4_ENST00000379679.1_Missense_Mutation_p.L201F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	374					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)		ACAAAAAAGTCAAATAGGAGG	0.483													18	65					0	0	0	0	G	38266248	C	G	38266248	3	3	76	1	0	0	0	0	1	0	0	0	16675	825	29	2	1858	2	TRPC4	13	38266248	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08		38266248	76903630	95	14435											
NALCN	259232	broad.mit.edu	37	chr13	101763549	101763549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcccctcaaatgatcCgctcagcatgcgctgtcggg	6	8	13	14	3	2	1	2	1	0	0	4	1	3	1	3	2	3	4	3	2	1	0			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr13:101763549C>T	ENST00000251127.6	-	19	2302	c.2221G>A	c.(2221-2223)Gga>Aga	p.G741R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	741						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.G741R(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCAAATGATCCGCTCAGCATG	0.493													69	201					0	0	0	0	T	101763549	C	T	101763549	3	4	76	1	0	0	0	0	1	0	0	0	10218	661	23	1	3099	1	NALCN	13	101763549	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	63497301	101763549	13406329	96	14436											
KLHL28	54813	broad.mit.edu	37	chr14	45403630	45403630	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgatagtgacgccaggaCgcacattagttgcaatacca	12	10	9	10	2	1	2	0	2	1	0	1	3	1	3	2	1	2	3	2	1	4	5			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr14:45403630C>A	ENST00000396128.4	-	3	1150	c.1031G>T	c.(1030-1032)cGt>cTt	p.R344L	KLHL28_ENST00000355081.2_Missense_Mutation_p.R358L	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	344								p.R344H(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GACGCCAGGACGCACATTAGT	0.393													74	98					2.10328e-26	2.81027e-26	1	0	A	45403630	C	A	45403630	3	1	76	1	0	0	0	0	1	0	0	0	8434	536	19	3	696	3	KLHL28	14	45403630	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08		45403630	61945910	97	14437											
MDGA2	161357	broad.mit.edu	37	chr14	47426789	47426789	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactctgcaactcatagtgAcacttcgatcctgtccttgc	8	13	7	13	1	2	1	1	1	1	0	5	2	4	1	2	0	4	2	2	0	3	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr14:47426789A>C	ENST00000426342.1	-	9	1729	c.983T>G	c.(982-984)gTc>gGc	p.V328G	MDGA2_ENST00000439988.2_Missense_Mutation_p.V557G|MDGA2_ENST00000399232.2_Missense_Mutation_p.V626G|MDGA2_ENST00000357362.3_Missense_Mutation_p.V328G	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	557	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ACTCATAGTGACACTTCGATC	0.458													28	118					0	0	0	0	C	47426789	A	C	47426789	3	2	76	1	0	0	0	0	1	0	0	0	9476	275	10	5	1236	5	MDGA2	14	47426789	Missense_Mutation	SNP	A	TCGA-CN-5355-01A-01D-1434-08	2023159	47426789	59922751	98	14438											
MAGEL2	54551	broad.mit.edu	37	chr15	23890513	23890513	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaggctgaaactgggaggTagctgggaagacacttgagg	11	6	18	6	0	0	3	0	2	0	1	0	5	0	5	0	6	2	4	0	6	3	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr15:23890513T>A	ENST00000532292.1	-	1	662	c.568A>T	c.(568-570)Acc>Tcc	p.T190S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AACTGGGAGGTAGCTGGGAAG	0.582													19	79					0	0	0	0	A	23890513	T	A	23890513	3	1	76	1	0	0	0	0	1	0	0	0	9258	1638	57	5	1376	5	MAGEL2	15	23890513	Missense_Mutation	SNP	T	TCGA-CN-5355-01A-01D-1434-08		23890513	78640879	99	14439											
MYO5A	4644	broad.mit.edu	37	chr15	52672048	52672048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaccggccgcactgattcgGatggtttccaggacaccaca	11	7	10	13	3	0	1	0	1	0	0	2	3	1	3	4	4	1	2	4	4	1	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr15:52672048G>A	ENST00000399231.3	-	17	2313	c.2070C>T	c.(2068-2070)atC>atT	p.I690I	MYO5A_ENST00000358212.6_Silent_p.I690I|MYO5A_ENST00000356338.6_Silent_p.I690I|MYO5A_ENST00000399233.2_Silent_p.I690I|MYO5A_ENST00000553916.1_Silent_p.I690I	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	690	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CACTGATTCGGATGGTTTCCA	0.473													43	190					0	0	0	0	A	52672048	G	A	52672048	2	1	76	1	0	0	0	0	0	0	0	1	10148	1164	41	2		2	MYO5A	15	52672048	Silent	SNP	G	TCGA-CN-5355-01A-01D-1434-08	28781535	52672048	49859344	100	14440											
UNC13C	440279	broad.mit.edu	37	chr15	54919300	54919300	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaacaagatctactgaaGagagtgcttgaaacaaacac	18	7	8	8	0	1	5	0	3	1	2	1	6	1	5	0	0	5	1	0	0	6	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr15:54919300G>T	ENST00000545554.1	+	32	6634	c.6634G>T	c.(6634-6636)Gag>Tag	p.E2212*	UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E2212*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E2210*|UNC13C_ENST00000539562.2_Nonsense_Mutation_p.E133*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2212					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCTACTGAAGAGAGTGCTTG	0.353													12	28					1.08611e-07	1.24238e-07	1	0	T	54919300	G	T	54919300	4	4	76	1	0	0	0	0	0	1	0	0	17082	943	33	2	6756	2	UNC13C	15	54919300	Nonsense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	2247252	54919300	47612092	101	14441											
VPS33B	26276	broad.mit.edu	37	chr15	91557072	91557072	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactttgtatttgcgagttcGgccagccaatttgtcagcat	8	14	9	10	2	1	0	1	0	0	0	2	1	1	0	2	1	3	3	2	1	2	5			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr15:91557072G>A	ENST00000333371.3	-	5	672	c.319C>T	c.(319-321)Cga>Tga	p.R107*	VPS33B_ENST00000535843.1_Nonsense_Mutation_p.R16*|VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535906.1_Nonsense_Mutation_p.R80*	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	107					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TTGCGAGTTCGGCCAGCCAAT	0.517													40	146					0	0	0	0	A	91557072	G	A	91557072	4	1	76	1	0	0	0	0	0	1	0	0	17298	1124	39	1	1610	1	VPS33B	15	91557072	Nonsense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	36637772	91557072	10974320	102	14442											
ACSM2B	348158	broad.mit.edu	37	chr16	20554262	20554262	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggacggggtctgggctgcTgatcacagccgtctcaacca	7	8	13	13	3	3	1	2	1	2	0	5	2	3	2	2	4	3	2	2	4	1	0			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr16:20554262T>G	ENST00000329697.6	-	12	1651	c.1483A>C	c.(1483-1485)Agc>Cgc	p.S495R	ACSM2B_ENST00000565232.1_Missense_Mutation_p.S495R|ACSM2B_ENST00000567001.1_Missense_Mutation_p.S495R|ACSM2B_ENST00000565322.1_Missense_Mutation_p.S416R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	495					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCTGGGCTGCTGATCACAGCC	0.537													18	92					0	0	0	0	G	20554262	T	G	20554262	3	3	76	1	0	0	0	0	1	0	0	0	184	1580	55	5	262	5	ACSM2B	16	20554262	Missense_Mutation	SNP	T	TCGA-CN-5355-01A-01D-1434-08		20554262	69800491	103	14443											
ZNF423	23090	broad.mit.edu	37	chr16	49671562	49671562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggggccgcagtgggagaCgcggatgtgctcctgcaggc	5	7	19	10	3	0	1	0	0	0	1	1	3	1	2	2	5	2	4	2	5	0	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr16:49671562C>T	ENST00000561648.1	-	4	1554	c.1501G>A	c.(1501-1503)Gtc>Atc	p.V501I	ZNF423_ENST00000262383.2_Missense_Mutation_p.V501I|ZNF423_ENST00000567169.1_Missense_Mutation_p.V384I|ZNF423_ENST00000563137.2_Missense_Mutation_p.V441I|ZNF423_ENST00000562871.1_Missense_Mutation_p.V441I|ZNF423_ENST00000535559.1_Missense_Mutation_p.V384I|ZNF423_ENST00000562520.1_Missense_Mutation_p.V441I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	501					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.V501I(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CAGTGGGAGACGCGGATGTGC	0.562													6	75					0	0	0	0	T	49671562	C	T	49671562	3	4	76	1	0	0	0	0	1	0	0	0	17993	536	19	1	2373	1	ZNF423	16	49671562	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	29117300	49671562	40683191	104	14444											
LPCAT2	54947	broad.mit.edu	37	chr16	55583314	55583314	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaattagccgaaaattgaAgtaagtgtattttaaaatga	19	13	7	2	1	0	2	0	2	0	0	0	3	0	2	1	0	1	2	1	0	10	7			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr16:55583314A>G	ENST00000262134.5	+	10	1245	c.1061_splice	c.e10+1	p.K354_splice		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	354					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CGAAAATTGAAGTAAGTGTAT	0.363													26	99					0	0	0	0	G	55583314	A	G	55583314	5	3	76	1	0	0	0	0	0	0	1	0	8975	86	3	5	1099	5	LPCAT2	16	55583314	Splice_Site	SNP	A	TCGA-CN-5355-01A-01D-1434-08	5911752	55583314	34771439	105	14445											
EDC4	23644	broad.mit.edu	37	chr16	67911296	67911296	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggcgcttggctctggttAatggcaaaattcagtatcca	9	13	11	8	1	2	0	1	0	1	0	3	0	3	0	1	4	0	5	1	4	4	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr16:67911296A>T	ENST00000358933.5	+	5	867	c.628A>T	c.(628-630)Aat>Tat	p.N210Y	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	210					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCTCTGGTTAATGGCAAAAT	0.567													25	65					0	0	0	0	T	67911296	A	T	67911296	3	4	76	1	0	0	0	0	1	0	0	0	4944	362	13	5	646	5	EDC4	16	67911296	Missense_Mutation	SNP	A	TCGA-CN-5355-01A-01D-1434-08	12327982	67911296	22443457	106	14446											
FOXC2	2303	broad.mit.edu	37	chr16	86601397	86601397	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccctggacccggactcCtacaacatgttcgagaacgg	10	7	11	13	3	0	1	0	0	0	1	2	5	1	4	3	4	3	1	3	4	3	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr16:86601397C>A	ENST00000320354.4	+	1	541	c.456C>A	c.(454-456)tcC>tcA	p.S152S		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	152					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ACCCGGACTCCTACAACATGT	0.627									Late-onset Hereditary Lymphedema				30	98					1.74807e-11	2.0742e-11	1	0	A	86601397	C	A	86601397	2	1	76	1	0	0	0	0	0	0	0	1	6040	668	24	4		4	FOXC2	16	86601397	Silent	SNP	C	TCGA-CN-5355-01A-01D-1434-08	18690101	86601397	3753356	107	14447											
TP53	7157	broad.mit.edu	37	chr17	7576853	7576853	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcccaagacttagtacCtgaagggtgaaatattctcc	12	10	10	9	0	1	3	0	2	1	1	3	4	2	3	3	2	1	1	3	2	6	4	rs11575996		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr17:7576853C>T	ENST00000420246.2	-	9	1125	c.993_splice	c.e9+1	p.Q331_splice	TP53_ENST00000269305.4_Splice_Site_p.Q331_splice|TP53_ENST00000455263.2_Splice_Site_p.Q331_splice|TP53_ENST00000445888.2_Splice_Site_p.Q331_splice|TP53_ENST00000359597.4_Splice_Site_p.Q331_splice|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACTTAGTACCTGAAGGGTGA	0.453		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			56	79					0	0	0	0	T	7576853	C	T	7576853	5	4	76	1	0	0	0	0	0	0	1	0	16476	695	24	4	289	4	TP53	17	7576853	Splice_Site	SNP	C	TCGA-CN-5355-01A-01D-1434-08		7576853	73618357	108	14448											
KDM6B	23135	broad.mit.edu	37	chr17	7755572	7755572	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgacccggagacctcgtGtggattaatgcggggactgt	8	8	15	10	4	0	1	0	0	0	1	1	5	0	3	2	4	2	0	2	4	1	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr17:7755572G>A	ENST00000254846.5	+	19	4775	c.4386G>A	c.(4384-4386)gtG>gtA	p.V1462V	KDM6B_ENST00000448097.2_Silent_p.V1462V	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1462	JmjC.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGACCTCGTGTGGATTAATG	0.607											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	106					0	0	0	0	A	7755572	G	A	7755572	2	1	76	1	0	0	0	0	0	0	0	1	8190	1364	48	4		4	KDM6B	17	7755572	Silent	SNP	G	TCGA-CN-5355-01A-01D-1434-08	178719	7755572	73439638	109	14449											
PIK3R5	23533	broad.mit.edu	37	chr17	8792082	8792082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagcagggaatctctctcgGcacagtgcccgtcagtttcc	8	9	11	13	2	3	1	1	0	2	1	6	2	4	2	2	2	2	3	2	2	1	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr17:8792082G>A	ENST00000447110.1	-	10	1146	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	PIK3R5_ENST00000584803.1_Missense_Mutation_p.A341V|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A341V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	341				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ATCTCTCTCGGCACAGTGCCC	0.617													3	36					0	0	0	0	A	8792082	G	A	8792082	3	1	76	1	0	0	0	0	1	0	0	0	11994	1203	42	4	1660	4	PIK3R5	17	8792082	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	1036510	8792082	72403128	110	14450											
CCL1	6346	broad.mit.edu	37	chr17	32688914	32688914	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctggagaagggtacctgCactagaagaggaacacagac	15	5	12	9	0	1	4	0	0	1	4	1	6	1	5	1	3	3	2	1	3	5	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr17:32688914C>T	ENST00000225842.3	-	2	147	c.76_splice	c.e2-1	p.M26_splice		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	26					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		AGGGTACCTGCACTAGAAGAG	0.453											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	130					0	0	0	0	T	32688914	C	T	32688914	5	4	76	1	0	0	0	0	0	0	1	0	2909	724	25	4	220	4	CCL1	17	32688914	Splice_Site	SNP	C	TCGA-CN-5355-01A-01D-1434-08	23896832	32688914	48506296	111	14451											
KRT16	3868	broad.mit.edu	37	chr17	39767694	39767694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcagctcatccaacaccCggcgcaggccattgacgtcg	8	6	12	15	4	2	1	2	1	0	0	4	1	3	1	3	3	2	2	3	3	1	1	rs142812826	byFrequency	TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr17:39767694C>A	ENST00000301653.4	-	3	738	c.674G>T	c.(673-675)cGg>cTg	p.R225L		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	225	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				ATCCAACACCCGGCGCAGGCC	0.622													25	101					4.87955e-14	5.87765e-14	1	0	A	39767694	C	A	39767694	3	1	76	1	0	0	0	0	1	0	0	0	8505	652	23	3	771	3	KRT16	17	39767694	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	7078780	39767694	41427516	112	14452											
WNK4	65266	broad.mit.edu	37	chr17	40948502	40948502	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatcctgctcccaggcaTcatgcgaaggaactctctga	9	8	8	16	1	2	1	1	1	1	0	5	3	4	2	4	2	3	2	4	2	2	0			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr17:40948502T>A	ENST00000246914.5	+	18	3656	c.3635T>A	c.(3634-3636)aTc>aAc	p.1212_1212insN		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	0					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTCCCAGGCATCATGCGAAGG	0.647													22	67					0	0	0	0	A	40948502	T	A	40948502	3	1	76	1	0	0	0	0	1	0	0	0	17476	1435	50	5	3705	5	WNK4	17	40948502	Missense_Mutation	SNP	T	TCGA-CN-5355-01A-01D-1434-08	1180808	40948502	40246708	113	14453											
POLI	11201	broad.mit.edu	37	chr18	51800403	51800403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagaaaagtgtccacagttgGtattagttaatggagaagac	16	10	11	4	0	0	3	0	0	0	3	1	4	1	3	1	2	0	3	1	2	7	4	rs142974796	byFrequency	TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr18:51800403G>T	ENST00000579534.1	+	3	492	c.349G>T	c.(349-351)Gta>Tta	p.V117L	POLI_ENST00000217800.5_Missense_Mutation_p.V14L|POLI_ENST00000406285.3_Missense_Mutation_p.V117L|POLI_ENST00000579434.1_Missense_Mutation_p.V14L	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	117	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TCCACAGTTGGTATTAGTTAA	0.348								DNA polymerases (catalytic subunits)					11	27					3.03607e-14	3.685e-14	1	0	T	51800403	G	T	51800403	3	4	76	1	0	0	0	0	1	0	0	0	12275	1261	44	4	359	4	POLI	18	51800403	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08		51800403	26276845	114	14454											
ZNF236	7776	broad.mit.edu	37	chr18	74671751	74671751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaccaagccagctggagCgccacagccgcatacataca	14	3	8	16	2	0	0	0	0	0	0	0	1	0	1	5	1	7	2	5	1	4	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr18:74671751C>G	ENST00000253159.8	+	29	5413	c.5215C>G	c.(5215-5217)Cgc>Ggc	p.R1739G	ZNF236_ENST00000320610.9_Missense_Mutation_p.R1741G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1739					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCAGCTGGAGCGCCACAGCCG	0.502													14	65					0	0	0	0	G	74671751	C	G	74671751	3	3	76	1	0	0	0	0	1	0	0	0	17884	768	27	3	5329	3	ZNF236	18	74671751	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	22871348	74671751	3405497	115	14455											
C3	718	broad.mit.edu	37	chr19	6692960	6692960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcttggtgtatcacgggcGcatcctcctggaagaccccg	6	11	11	13	3	2	1	1	0	1	1	4	2	4	2	4	3	0	2	4	3	2	3			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:6692960G>A	ENST00000245907.6	-	26	3457	c.3365C>T	c.(3364-3366)gCg>gTg	p.A1122V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1122					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TATCACGGGCGCATCCTCCTG	0.557													5	274					0	0	0	0	A	6692960	G	A	6692960	3	1	76	1	0	0	0	0	1	0	0	0	2224	1087	38	1	1690	1	C3	19	6692960	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08		6692960	52436023	116	14456											
ZNF536	9745	broad.mit.edu	37	chr19	30936347	30936347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagggtcctgggaacatGaaggagaagcccaccgagtg	11	5	15	10	1	0	2	0	1	0	1	1	5	1	3	3	3	3	1	3	3	3	0			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:30936347G>A	ENST00000355537.3	+	2	2025	c.1878G>A	c.(1876-1878)atG>atA	p.M626I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGGGAACATGAAGGAGAAGC	0.597													58	222					0	0	0	0	A	30936347	G	A	30936347	3	1	76	1	0	0	0	0	1	0	0	0	18069	1290	45	2	1880	2	ZNF536	19	30936347	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	24243387	30936347	28192636	117	14457											
ZNF880	400713	broad.mit.edu	37	chr19	52877716	52877717	+	Frame_Shift_Ins	INS	-	-	T																															ccagagtggaggccccataaINSttttttttttttttaaacag																								rs77187934		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:52877716_52877717insT	ENST00000597976.1	+	3	324_325	c.304_305insT	c.(304-306)tttfs	p.F102fs	ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AGGCCCCATAAttttttttttt	0.475													3	5	---	---	---	---					T	52877717	-	T	52877716	7	5	76	1	0	1	1	0	0	0	0	0	18290	116	4	0		0	ZNF880	19	52877716	Frame_Shift_Ins	INS	-	TCGA-CN-5355-01A-01D-1434-08	21941369	52877716	6251267	118	14458											
ZNF83	55769	broad.mit.edu	37	chr19	53116711	53116711	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacttataaggtttctcAccggcatgaattatcagatg	12	13	7	9	1	3	2	3	1	1	1	4	2	3	2	1	2	0	2	1	2	4	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:53116711A>G	ENST00000597597.1	-	2	3360	c.1107T>C	c.(1105-1107)ggT>ggC	p.G369G	ZNF83_ENST00000391789.4_Silent_p.G341G|ZNF83_ENST00000301096.3_Silent_p.G369G|ZNF83_ENST00000536937.1_Silent_p.G369G|ZNF83_ENST00000545872.1_Silent_p.G369G|ZNF83_ENST00000541777.2_Silent_p.G369G|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Silent_p.G369G			P51522	ZNF83_HUMAN	zinc finger protein 83	369						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		AAGGTTTCTCACCGGCATGAA	0.393													57	199					0	0	0	0	G	53116711	A	G	53116711	2	3	76	1	0	0	0	0	0	0	0	1	18276	146	6	5		5	ZNF83	19	53116711	Silent	SNP	A	TCGA-CN-5355-01A-01D-1434-08	238995	53116711	6012272	119	14459											
LILRB2	10288	broad.mit.edu	37	chr19	54780728	54780728	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaggaggaggaggagCagtaggacgacggccaccaa	14	1	19	7	2	0	0	0	0	0	0	0	8	0	7	2	8	1	2	2	8	2	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:54780728C>G	ENST00000391748.1	-	10	1540	c.1413G>C	c.(1411-1413)ctG>ctC	p.L471L	LILRB2_ENST00000314446.5_Silent_p.L471L|LILRB2_ENST00000434421.1_Silent_p.L356L|LILRB2_ENST00000391749.4_Silent_p.L472L|LILRB2_ENST00000391746.1_Silent_p.L472L	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	472					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggaggaggagcagtaggaCGA	0.582													36	124					0	0	0	0	G	54780728	C	G	54780728	2	3	76	1	0	0	0	0	0	0	0	1	8845	697	25	4		4	LILRB2	19	54780728	Silent	SNP	C	TCGA-CN-5355-01A-01D-1434-08	1664017	54780728	4348255	120	14460											
ZIK1	284307	broad.mit.edu	37	chr19	58102416	58102416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttataagtgtggtgactgtGggaaatcctttagtcaaagc	11	13	11	6	0	1	1	1	1	0	0	2	2	2	2	1	2	1	0	1	2	5	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:58102416G>A	ENST00000597850.1	+	4	1452	c.1237G>A	c.(1237-1239)Ggg>Agg	p.G413R	ZIK1_ENST00000599456.1_Missense_Mutation_p.G358R|ZIK1_ENST00000536878.2_Missense_Mutation_p.G400R|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGTGACTGTGGGAAATCCTT	0.458													16	77					0	0	0	0	A	58102416	G	A	58102416	3	1	76	1	0	0	0	0	1	0	0	0	17778	1348	47	4	1251	4	ZIK1	19	58102416	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	3321688	58102416	1026567	121	14461											
ZNF418	147686	broad.mit.edu	37	chr19	58438767	58438767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaaagatttcccacattctCcacattcataaggtcttttc	12	15	3	11	0	3	1	1	0	2	1	6	1	4	1	2	1	0	0	2	1	3	7			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:58438767C>A	ENST00000396147.1	-	4	1073	c.782G>T	c.(781-783)gGa>gTa	p.G261V	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.G282V|ZNF418_ENST00000599852.1_Missense_Mutation_p.G176V|ZNF418_ENST00000595830.1_Missense_Mutation_p.G261V	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CCCACATTCTCCACATTCATA	0.418													15	210					1.3612e-06	1.52416e-06	1	0	A	58438767	C	A	58438767	3	1	76	1	0	0	0	0	1	0	0	0	17990	855	30	2	1252	2	ZNF418	19	58438767	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	336351	58438767	690216	122	14462											
SIRPD	128646	broad.mit.edu	37	chr20	1532406	1532406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccttttatgaacttcaCgcagtaataggtgccagcat	10	14	7	10	1	2	1	1	1	1	0	3	1	3	1	2	1	3	3	2	1	4	6			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr20:1532406C>T	ENST00000381623.3	-	2	1541	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	SIRPD_ENST00000381621.1_Missense_Mutation_p.V118M			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	118	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						ATGAACTTCACGCAGTAATAG	0.488													22	100					0	0	0	0	T	1532406	C	T	1532406	3	4	76	1	0	0	0	0	1	0	0	0	14423	536	19	1	253	1	SIRPD	20	1532406	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08		1532406	61493114	123	14463											
TOMM34	10953	broad.mit.edu	37	chr20	43572117	43572117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagtgctttgtgggcttgagCccgtctgtagaatgccttca	6	13	13	9	1	2	2	1	1	1	1	2	3	2	2	2	1	3	3	2	1	2	4			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr20:43572117C>T	ENST00000372813.3	-	6	954	c.802G>A	c.(802-804)Gct>Act	p.A268T	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	268					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TGGGCTTGAGCCCGTCTGTAG	0.473													5	222					0	0	0	0	T	43572117	C	T	43572117	3	4	76	1	0	0	0	0	1	0	0	0	16451	739	26	4	135	4	TOMM34	20	43572117	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	42039711	43572117	19453403	124	14464											
KRTAP13-3	337960	broad.mit.edu	37	chr21	31798152	31798152	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctggggtaggaagagcCacaggaggagcctgggtagt	9	7	19	6	0	0	1	0	0	0	1	0	4	0	4	2	6	3	4	2	6	3	3			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr21:31798152C>A	ENST00000390690.2	-	1	134	c.79G>T	c.(79-81)Ggc>Tgc	p.G27C		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	27						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						TAGGAAGAGCCACAGGAGGAG	0.567													34	136					2.20474e-14	2.69656e-14	1	0	A	31798152	C	A	31798152	3	1	76	1	0	0	0	0	1	0	0	0	8576	594	21	4	443	4	KRTAP13-3	21	31798152	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08		31798152	16331743	125	14465											
CCT8L2	150160	broad.mit.edu	37	chr22	17072997	17072997	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagattggatggccagggaGggcagtgtggccaggacctc	9	6	18	8	0	0	1	0	0	0	1	1	5	0	4	3	6	0	1	3	6	0	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr22:17072997G>A	ENST00000359963.3	-	1	703	c.444C>T	c.(442-444)ccC>ccT	p.P148P		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	148					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGCCAGGGAGGGCAGTGTGG	0.637													8	48					0	0	0	0	A	17072997	G	A	17072997	2	1	76	1	0	0	0	0	0	0	0	1	2990	987	35	4		4	CCT8L2	22	17072997	Silent	SNP	G	TCGA-CN-5355-01A-01D-1434-08		17072997	34231569	126	14466											
C22orf31	25770	broad.mit.edu	37	chr22	29454807	29454807	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctgcttcctgccagggaAccggtccctctgagcacctt	5	10	11	15	1	1	1	0	1	1	0	3	2	3	2	5	3	4	3	5	3	1	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr22:29454807A>C	ENST00000216071.4	-	3	847	c.796T>G	c.(796-798)Ttc>Gtc	p.F266V		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	266										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						CTGCCAGGGAACCGGTCCCTC	0.522													17	154					0	0	0	0	C	29454807	A	C	29454807	3	2	76	1	0	0	0	0	1	0	0	0	2163	43	2	5	80	5	C22orf31	22	29454807	Missense_Mutation	SNP	A	TCGA-CN-5355-01A-01D-1434-08	12381810	29454807	21849759	127	14467											
APOBEC3B	9582	broad.mit.edu	37	chr22	39385564	39385564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaggtggagcgcctggaCaatggcacctgggtcctgat	8	9	15	9	1	0	2	0	2	0	0	1	4	1	4	3	5	1	1	3	5	2	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr22:39385564C>A	ENST00000402182.3	+	5	727	c.672C>A	c.(670-672)gaC>gaA	p.D224E	APOBEC3B_ENST00000333467.3_Missense_Mutation_p.D224E|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.D224E			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	224					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					AGCGCCTGGACAATGGCACCT	0.562													17	70					1.67942e-08	1.9491e-08	1	0	A	39385564	C	A	39385564	3	1	76	1	0	0	0	0	1	0	0	0	792	477	17	4	690	4	APOBEC3B	22	39385564	Missense_Mutation	SNP	C	TCGA-CN-5355-01A-01D-1434-08	9930757	39385564	11919002	128	14468											
APOBEC3D	140564	broad.mit.edu	37	chr22	39427930	39427930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattaccaggaggggctcTgcagcctgagtcaggaaggg	10	6	16	9	0	2	2	1	1	1	1	2	4	2	4	2	5	3	2	2	5	2	1			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr22:39427930T>C	ENST00000216099.7	+	6	1401	c.994T>C	c.(994-996)Tgc>Cgc	p.C332R	APOBEC3D_ENST00000381568.4_Missense_Mutation_p.C332R|APOBEC3D_ENST00000427494.2_Missense_Mutation_p.C148R	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	332					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					GGAGGGGCTCTGCAGCCTGAG	0.617													11	139					0	0	0	0	C	39427930	T	C	39427930	3	2	76	1	0	0	0	0	1	0	0	0	794	1580	55	5	1016	5	APOBEC3D	22	39427930	Missense_Mutation	SNP	T	TCGA-CN-5355-01A-01D-1434-08	42366	39427930	11876636	129	14469											
SCUBE1	80274	broad.mit.edu	37	chr22	43617226	43617226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgctcgtgcctggctgtggGgccggaggtggcacttggca	3	10	18	10	2	0	0	0	0	0	0	1	1	0	1	2	7	2	4	2	7	0	2			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr22:43617226G>C	ENST00000360835.3	-	13	1628	c.1502C>G	c.(1501-1503)cCc>cGc	p.P501R		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	501					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CTGGCTGTGGGGCCGGAGGTG	0.642													18	56					0	0	0	0	C	43617226	G	C	43617226	3	2	76	1	0	0	0	0	1	0	0	0	14031	1232	43	4	1504	4	SCUBE1	22	43617226	Missense_Mutation	SNP	G	TCGA-CN-5355-01A-01D-1434-08	4189296	43617226	7687340	130	14470											
KDM6A	7403	broad.mit.edu	37	chrX	44929602	44929602	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagttctgaaggcatgcaGgttagtgtgggaaagttcat	12	11	14	4	0	2	2	1	1	1	1	2	3	2	3	0	3	1	5	0	3	4	3			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chrX:44929602G>T	ENST00000377967.4	+	17	2743	c.2702_splice	c.e17+1	p.R901_splice	KDM6A_ENST00000543216.1_Splice_Site_p.R822_splice|KDM6A_ENST00000536777.1_Splice_Site_p.R856_splice|KDM6A_ENST00000382899.4_Splice_Site_p.R908_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	901					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.R901K(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAGGCATGCAGGTTAGTGTGG	0.418			"D, N, F, S"		"renal, oesophageal SCC, MM"								9	13					4.68919e-08	5.40276e-08	1	0	T	44929602	G	T	44929602	5	4	76	1	0	0	0	0	0	0	1	0	8189	1014	35	4	2768	4	KDM6A	23	44929602	Splice_Site	SNP	G	TCGA-CN-5355-01A-01D-1434-08		44929602	110340958	131	14471											
SLITRK4	139065	broad.mit.edu	37	chrX	142718162	142718163	+	Frame_Shift_Ins	INS	-	-	T																															agctcttgtttgttggtttcINSttttaaaagccttccatata																										TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chrX:142718162_142718163insT	ENST00000381779.4	-	2	987_988	c.762_763insA	c.(760-765)aaaaacfs	p.N255fs	SLITRK4_ENST00000356928.1_Frame_Shift_Ins_p.N255fs|SLITRK4_ENST00000338017.4_Frame_Shift_Ins_p.N255fs	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	255	LRRCT 1.					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)					TTGTTGGTTTCTTTTAAAAGCC	0.45													19	47	---	---	---	---					T	142718163	-	T	142718162	7	5	76	1	0	1	1	0	0	0	0	0	14833	922	32	0	1754	0	SLITRK4	23	142718162	Frame_Shift_Ins	INS	-	TCGA-CN-5355-01A-01D-1434-08	97788560	142718162	12552398	132	14472											
CDK11B	984	broad.mit.edu	37	chr1	1572346	1572346	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggggatccgtactcccgCgccagcccgaagtcacccac	9	4	11	17	4	1	1	1	0	0	1	3	3	3	2	5	2	2	1	5	2	2	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:1572346C>T	ENST00000407249.3	-	17	1721	c.1722G>A	c.(1720-1722)gcG>gcA	p.A574A	CDK11B_ENST00000341832.6_Silent_p.A527A|CDK11B_ENST00000317673.7_Silent_p.A572A|CDK11B_ENST00000340677.5_Silent_p.A561A			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	584	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CGTACTCCCGCGCCAGCCCGA	0.687													15	21					0	0	0	0	T	1572346	C	T	1572346	2	4	77	1	0	0	0	0	0	0	0	1	3156	755	27	1		1	CDK11B	1	1572346	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08		1572346	247678275	1	14473											
CDK11B	984	broad.mit.edu	37	chr1	1586916	1586916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcctcaagggaatccCgcttggaatcccggtcatca	8	8	8	17	2	3	0	3	0	0	0	6	2	6	2	5	3	0	1	5	3	3	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:1586916C>A	ENST00000407249.3	-	2	133	c.134G>T	c.(133-135)cGg>cTg	p.R45L	CDK11B_ENST00000341832.6_Missense_Mutation_p.R11L|CDK11B_ENST00000317673.7_Missense_Mutation_p.R45L|CDK11B_ENST00000340677.5_Missense_Mutation_p.R45L			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	45					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						aagggaatcccgcttggaatc	0.398													21	34					2.39556e-15	2.864e-15	1	0	A	1586916	C	A	1586916	3	1	77	1	0	0	0	0	1	0	0	0	3156	667	23	3		3	CDK11B	1	1586916	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	14570	1586916	247663705	2	14474											
BAI2	576	broad.mit.edu	37	chr1	32221927	32221927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgggcgccagcaggcGcggggcctcggagggctcag	5	2	21	13	5	1	0	1	0	0	0	2	1	1	1	2	7	2	3	2	7	0	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:32221927G>T	ENST00000373658.3	-	4	852	c.511C>A	c.(511-513)Cgc>Agc	p.R171S	BAI2_ENST00000398547.1_Missense_Mutation_p.R159S|BAI2_ENST00000398542.1_Missense_Mutation_p.R159S|BAI2_ENST00000398556.3_Missense_Mutation_p.R174S|BAI2_ENST00000373655.2_Missense_Mutation_p.R171S|BAI2_ENST00000398538.1_Missense_Mutation_p.R159S|BAI2_ENST00000527361.1_Missense_Mutation_p.R171S|BAI2_ENST00000257070.4_Missense_Mutation_p.R171S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	171					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCCAGCAGGCGCGGGGCCTCG	0.622													9	76					0.000442599	0.000463721	1	0	T	32221927	G	T	32221927	3	4	77	1	0	0	0	0	1	0	0	0	1303	1087	38	3	4366	3	BAI2	1	32221927	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	30635011	32221927	217028694	3	14475											
TEKT2	27285	broad.mit.edu	37	chr1	36552864	36552864	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccttcaggaagcggctGcgggagatggagaaagtgta	10	9	16	6	2	1	2	1	0	0	2	1	5	1	3	1	4	3	2	1	4	3	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:36552864G>T	ENST00000207457.3	+	7	934	c.807G>T	c.(805-807)ctG>ctT	p.L269L		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	269					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGAAGCGGCTGCGGGAGATGG	0.542													13	50					2.61681e-11	3.01652e-11	1	0	T	36552864	G	T	36552864	2	4	77	1	0	0	0	0	0	0	0	1	15847	1306	46	4		4	TEKT2	1	36552864	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	4330937	36552864	212697757	4	14476											
SLC6A9	6536	broad.mit.edu	37	chr1	44467985	44467985	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcagggagcactcacCggtaacagttattgtggaac	11	7	12	11	1	1	0	1	0	0	0	1	2	1	2	2	3	4	4	2	3	3	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:44467985C>T	ENST00000372310.3	-	8	1127	c.962_splice	c.e8+1	p.R321_splice	SLC6A9_ENST00000475075.2_Splice_Site_p.R210_splice|SLC6A9_ENST00000537678.1_Splice_Site_p.R256_splice|SLC6A9_ENST00000360584.2_Splice_Site_p.R394_splice|SLC6A9_ENST00000372307.3_Splice_Site_p.R256_splice|SLC6A9_ENST00000357730.2_Splice_Site_p.R340_splice|SLC6A9_ENST00000372306.3_Splice_Site_p.R321_splice	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	394						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GAGCACTCACCGGTAACAGTT	0.607													12	74					0	0	0	0	T	44467985	C	T	44467985	5	4	77	1	0	0	0	0	0	0	1	0	14779	666	23	1	967	1	SLC6A9	1	44467985	Splice_Site	SNP	C	TCGA-CN-5356-01A-01D-1434-08	7915121	44467985	204782636	5	14477											
DAB1	1600	broad.mit.edu	37	chr1	57537304	57537304	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctctcaagtccagaataAcaggttcagcctgggatgaa	13	9	10	9	0	3	2	2	1	1	1	5	4	4	3	2	2	2	1	2	2	4	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:57537304A>G	ENST00000371236.2	-	6	712	c.449T>C	c.(448-450)gTt>gCt	p.V150A	DAB1_ENST00000414851.2_Missense_Mutation_p.V150A|DAB1_ENST00000371230.1_Missense_Mutation_p.V150A|DAB1_ENST00000371234.4_Missense_Mutation_p.V150A|DAB1_ENST00000420954.2_Missense_Mutation_p.V150A|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371231.1_Missense_Mutation_p.V150A|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	150	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTCCAGAATAACAGGTTCAGC	0.418													21	48					0	0	0	0	G	57537304	A	G	57537304	3	3	77	1	0	0	0	0	1	0	0	0	4250	43	2	5	1254	5	DAB1	1	57537304	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	13069319	57537304	191713317	6	14478											
LRRC7	57554	broad.mit.edu	37	chr1	70555441	70555441	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagaaaagaatcctggccTtggatttagtatcagtggtg	13	12	11	5	0	1	2	1	0	0	2	2	3	2	3	2	3	0	1	2	3	7	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:70555441T>C	ENST00000310961.5	+	25	4662	c.4244T>C	c.(4243-4245)cTt>cCt	p.L1415P	LRRC7_ENST00000035383.5_Missense_Mutation_p.L1457P|LRRC7_ENST00000415775.2_Missense_Mutation_p.L741P			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1457						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AATCCTGGCCTTGGATTTAGT	0.289													22	114					0	0	0	0	C	70555441	T	C	70555441	3	2	77	1	0	0	0	0	1	0	0	0	9084	1609	56	5	4460	5	LRRC7	1	70555441	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	13018137	70555441	178695180	7	14479											
ZRANB2	9406	broad.mit.edu	37	chr1	71542527	71542527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtattacacatattacaCtctgatcttctggcccaatt	11	14	6	10	0	3	1	0	1	3	0	3	2	3	2	1	2	2	1	1	2	5	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:71542527C>A	ENST00000370920.3	-	4	553	c.252G>T	c.(250-252)gaG>gaT	p.E84D	ZRANB2_ENST00000254821.6_Missense_Mutation_p.E84D	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	84					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						ACATATTACACTCTGATCTTC	0.269													10	99					6.40141e-05	6.78044e-05	1	0	A	71542527	C	A	71542527	3	1	77	1	0	0	0	0	1	0	0	0	18316	564	20	4	806	4	ZRANB2	1	71542527	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	987086	71542527	177708094	8	14480											
C1orf173	127254	broad.mit.edu	37	chr1	75055489	75055489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgttccttctttaagaaCattctcaaagctttcgtcta	9	16	4	12	2	3	1	1	0	3	1	7	1	5	1	2	0	2	2	2	0	4	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:75055489C>A	ENST00000326665.5	-	12	2220	c.2002G>T	c.(2002-2004)Gtt>Ttt	p.V668F	C1orf173_ENST00000420661.2_Missense_Mutation_p.V471F|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	668	Glu-rich.									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						TCTTTAAGAACATTCTCAAAG	0.398													22	149					3.01185e-09	3.36741e-09	1	0	A	75055489	C	A	75055489	3	1	77	1	0	0	0	0	1	0	0	0	2033	478	17	4	2602	4	C1orf173	1	75055489	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	3512962	75055489	174195132	9	14481											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	77094330	77094330	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagggtatagaaaagtccccTaccattattatgaacaagga	17	9	8	7	0	0	2	0	1	0	1	1	3	1	3	3	2	2	1	3	2	10	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:77094330T>C	ENST00000328299.3	+	5	905	c.757T>C	c.(757-759)Tac>Cac	p.Y253H		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	253					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AAAAGTCCCCTACCATTATTA	0.348													17	77					0	0	0	0	C	77094330	T	C	77094330	3	2	77	1	0	0	0	0	1	0	0	0	15315	1522	53	5	789	5	ST6GALNAC3	1	77094330	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	2038841	77094330	172156291	10	14482											
COL24A1	255631	broad.mit.edu	37	chr1	86426969	86426969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatatttccttgatctcctActtctccctgtcaaaaaaga	12	14	3	12	0	3	2	1	1	2	1	6	2	4	2	3	0	1	0	3	0	6	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:86426969A>G	ENST00000370571.2	-	24	2891	c.2525T>C	c.(2524-2526)gTa>gCa	p.V842A	COL24A1_ENST00000436319.1_Missense_Mutation_p.V842A	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	842	Collagen-like 5.			GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923).	cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGATCTCCTACTTCTCCCTG	0.269													26	84					0	0	0	0	G	86426969	A	G	86426969	3	3	77	1	0	0	0	0	1	0	0	0	3713	391	14	5	2767	5	COL24A1	1	86426969	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	9332639	86426969	162823652	11	14483											
BARHL2	343472	broad.mit.edu	37	chr1	91182748	91182748	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgctggccccttccattGtcattgctacatgaggtcca	7	11	8	15	1	1	1	1	1	0	0	3	1	3	1	5	2	2	2	5	2	1	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:91182748G>T	ENST00000370445.4	-	1	46	c.5C>A	c.(4-6)aCa>aAa	p.T2K		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	2						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CCCTTCCATTGTCATTGCTAC	0.527													17	136					1.45105e-14	1.71359e-14	1	0	T	91182748	G	T	91182748	3	4	77	1	0	0	0	0	1	0	0	0	1318	1377	48	4	1170	4	BARHL2	1	91182748	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	4755779	91182748	158067873	12	14484											
HFM1	164045	broad.mit.edu	37	chr1	91781966	91781966	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaattcaagttcccttgcAtctgtctcttctattttttt	7	20	3	11	0	4	0	1	0	3	0	6	0	5	0	2	0	1	2	2	0	3	8			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:91781966A>T	ENST00000370425.3	-	26	2978	c.2880T>A	c.(2878-2880)gaT>gaA	p.D960E	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.D192E|HFM1_ENST00000370424.3_Missense_Mutation_p.D639E	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	960	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTCCCTTGCATCTGTCTCTT	0.299													48	122					0	0	0	0	T	91781966	A	T	91781966	3	4	77	1	0	0	0	0	1	0	0	0	7133	214	8	5	1483	5	HFM1	1	91781966	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	599218	91781966	157468655	13	14485											
SLC44A3	126969	broad.mit.edu	37	chr1	95322999	95322999	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggactagtgaattcaTccttgcgtgccagcaaatga	11	11	9	10	1	2	2	1	2	1	0	3	3	3	3	2	1	3	1	2	1	3	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:95322999T>A	ENST00000271227.6	+	10	1283	c.1181T>A	c.(1180-1182)aTc>aAc	p.I394N	SLC44A3_ENST00000446120.2_Missense_Mutation_p.I358N|SLC44A3_ENST00000467909.1_Missense_Mutation_p.I346N|SLC44A3_ENST00000527077.1_Missense_Mutation_p.I326N|SLC44A3_ENST00000529450.1_Missense_Mutation_p.I362N|SLC44A3_ENST00000532427.1_Missense_Mutation_p.I314N|SLC44A3_ENST00000530397.1_3'UTR	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	394						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AGTGAATTCATCCTTGCGTGC	0.448													64	166					0	0	0	0	A	95322999	T	A	95322999	3	1	77	1	0	0	0	0	1	0	0	0	14725	1435	50	5	1219	5	SLC44A3	1	95322999	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	3541033	95322999	153927622	14	14486											
SLC44A3	126969	broad.mit.edu	37	chr1	95332973	95332973	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgctccatctcaaccaGgtacgtctctacctcttgcc	7	12	5	17	1	3	0	1	0	3	0	6	0	4	0	5	1	6	2	5	1	4	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:95332973G>C	ENST00000271227.6	+	12	1584	c.1482_splice	c.e12+1	p.Q494_splice	SLC44A3_ENST00000446120.2_Splice_Site_p.Q458_splice|SLC44A3_ENST00000467909.1_Splice_Site_p.Q446_splice|SLC44A3_ENST00000527077.1_Splice_Site_p.Q426_splice|SLC44A3_ENST00000529450.1_Splice_Site_p.Q461_splice|SLC44A3_ENST00000532427.1_Splice_Site_p.Q414_splice|SLC44A3_ENST00000530397.1_3'UTR	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	494						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	ATCTCAACCAGGTACGTCTCT	0.493													25	165					0	0	0	0	C	95332973	G	C	95332973	5	2	77	1	0	0	0	0	0	0	1	0	14725	1014	35	4	1528	4	SLC44A3	1	95332973	Splice_Site	SNP	G	TCGA-CN-5356-01A-01D-1434-08	9974	95332973	153917648	15	14487											
GPR88	54112	broad.mit.edu	37	chr1	101004651	101004651	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtattcgggcctggccatCgggggcacgctggccaacgg	5	7	16	13	4	0	0	0	0	0	0	2	0	0	0	3	6	1	3	3	6	2	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:101004651C>A	ENST00000315033.4	+	2	568	c.129C>A	c.(127-129)atC>atA	p.I43I		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	43						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		GCCTGGCCATCGGGGGCACGC	0.667													3	22					0.115264	0.11647	1	0	A	101004651	C	A	101004651	2	1	77	1	0	0	0	0	0	0	0	1	6766	874	31	3		3	GPR88	1	101004651	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	5671678	101004651	148245970	16	14488											
AMY2B	280	broad.mit.edu	37	chr1	104114736	104114736	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtttaatttgtaggtctCtccaccaaatgaaaatgttg	12	15	7	7	0	1	1	0	1	1	0	3	1	2	1	2	1	0	3	2	1	5	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:104114736C>G	ENST00000361355.4	+	4	789	c.173C>G	c.(172-174)tCt>tGt	p.S58C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	58					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTGTAGGTCTCTCCACCAAAT	0.313													50	282					0	0	0	0	G	104114736	C	G	104114736	3	3	77	1	0	0	0	0	1	0	0	0	595	913	32	2	179	2	AMY2B	1	104114736	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	3110085	104114736	145135885	17	14489											
AMY2B	280	broad.mit.edu	37	chr1	104115822	104115822	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatattctggatgggatttTaatgatggtaaatgtaaaac	14	14	9	4	0	1	1	0	1	1	0	1	3	1	3	1	3	1	2	1	3	6	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:104115822T>C	ENST00000361355.4	+	5	1069	c.453T>C	c.(451-453)ttT>ttC	p.F151F	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	151					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GATGGGATTTTAATGATGGTA	0.408													83	896					0	0	0	0	C	104115822	T	C	104115822	2	2	77	1	0	0	0	0	0	0	0	1	595	1751	61	5		5	AMY2B	1	104115822	Silent	SNP	T	TCGA-CN-5356-01A-01D-1434-08	1086	104115822	145134799	18	14490											
PRMT6	55170	broad.mit.edu	37	chr1	107600360	107600360	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggacgtttcaggagagatCacgctgctgccctcccggga	8	7	13	13	4	2	1	2	0	0	1	3	5	3	4	2	3	2	3	2	3	0	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:107600360C>G	ENST00000361318.5	+	1	1094	c.846C>G	c.(844-846)atC>atG	p.I282M	PRMT6_ENST00000370078.1_Missense_Mutation_p.I341M	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	341					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CAGGAGAGATCACGCTGCTGC	0.617													9	45					0	0	0	0	G	107600360	C	G	107600360	3	3	77	1	0	0	0	0	1	0	0	0	12620	816	29	2	1025	2	PRMT6	1	107600360	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	3484538	107600360	141650261	19	14491											
NES	10763	broad.mit.edu	37	chr1	156641773	156641773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgtgattctctgtttctAgaggtctcacaatactctgg	8	17	8	8	0	4	2	1	1	4	1	6	2	4	2	0	2	1	1	0	2	3	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:156641773A>G	ENST00000368223.3	-	4	2339	c.2207T>C	c.(2206-2208)cTa>cCa	p.L736P		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	736	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCTGTTTCTAGAGGTCTCAC	0.428													66	202					0	0	0	0	G	156641773	A	G	156641773	3	3	77	1	0	0	0	0	1	0	0	0	10407	420	15	5	2662	5	NES	1	156641773	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	49041413	156641773	92608848	20	14492											
OR10K2	391107	broad.mit.edu	37	chr1	158389862	158389862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcctggcttgaggagtaGttggactgaggccttaagta	9	11	14	7	0	0	2	0	2	0	0	1	4	1	4	2	4	0	5	2	4	3	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:158389862G>C	ENST00000314902.2	-	1	794	c.795C>G	c.(793-795)aaC>aaG	p.N265K		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TTGAGGAGTAGTTGGACTGAG	0.398													41	96					0	0	0	0	C	158389862	G	C	158389862	3	2	77	1	0	0	0	0	1	0	0	0	10985	1020	36	4	145	4	OR10K2	1	158389862	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1748089	158389862	90860759	21	14493											
SPTA1	6708	broad.mit.edu	37	chr1	158585170	158585170	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggttagttgacgcttcatCgcctggatctccttctgttt	4	18	9	10	2	3	1	1	1	2	0	5	2	3	2	2	2	0	4	2	2	1	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:158585170C>T	ENST00000368148.3	-	48	6804	c.6624G>A	c.(6622-6624)gcG>gcA	p.A2208A	SPTA1_ENST00000368147.3_Silent_p.A2205A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2208					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GACGCTTCATCGCCTGGATCT	0.468													92	198					0	0	0	0	T	158585170	C	T	158585170	2	4	77	1	0	0	0	0	0	0	0	1	15206	871	31	1		1	SPTA1	1	158585170	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	195308	158585170	90665451	22	14494											
OR6K2	81448	broad.mit.edu	37	chr1	158669837	158669837	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataatctccactgcatgaatGacatccactacctgaatcat	14	11	4	12	0	2	3	1	3	1	0	4	3	3	3	3	0	2	1	3	0	4	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:158669837G>C	ENST00000359610.2	-	1	649	c.606C>G	c.(604-606)gtC>gtG	p.V202V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V202V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTGCATGAATGACATCCACTA	0.483													33	115					0	0	0	0	C	158669837	G	C	158669837	2	2	77	1	0	0	0	0	0	0	0	1	11273	1277	45	2		2	OR6K2	1	158669837	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	84667	158669837	90580784	23	14495											
IGSF9	57549	broad.mit.edu	37	chr1	159897613	159897613	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggtgcaaagtctccaGcaattccatgtccccaggga	10	7	10	14	0	1	0	0	0	1	0	4	1	3	1	5	2	2	2	5	2	2	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:159897613G>A	ENST00000368094.1	-	20	3492	c.3295C>T	c.(3295-3297)Ctg>Ttg	p.L1099L	IGSF9_ENST00000361509.3_Silent_p.L1083L|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1099						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AAAGTCTCCAGCAATTCCATG	0.527													32	103					0	0	0	0	A	159897613	G	A	159897613	2	1	77	1	0	0	0	0	0	0	0	1	7658	962	34	4		4	IGSF9	1	159897613	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1227776	159897613	89353008	24	14496											
RXRG	6258	broad.mit.edu	37	chr1	165380003	165380003	+	Missense_Mutation	SNP	C	C	A																															aagtggggaatacgcttggcCcattcaacgagggtgaaaag																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:165380003C>A	ENST00000359842.5	-	6	1151	c.849G>T	c.(847-849)tgG>tgT	p.W283C	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	283	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TACGCTTGGCCCATTCAACGA	0.488													7	47					5.18039e-06	5.5976e-06	1	0	A	165380003	C	A	165380003	3	1	77	1	0	0	0	0	1	0	0	0	13850	624	22	4	562	4	RXRG	1	165380003	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	5482390	165380003	83870618	25	14497	124	2									
RXRG	6258	broad.mit.edu	37	chr1	165380004	165380004	+	Nonsense_Mutation	SNP	C	C	T																															agtggggaatacgcttggccCattcaacgagggtgaaaagc																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:165380004C>T	ENST00000359842.5	-	6	1150	c.848G>A	c.(847-849)tGg>tAg	p.W283*	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	283	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	ACGCTTGGCCCATTCAACGAG	0.493													7	50					0	0	0	0	T	165380004	C	T	165380004	4	4	77	1	0	0	0	0	0	1	0	0	13850	595	21	4	563	4	RXRG	1	165380004	Nonsense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	1	165380004	83870617	26	14498	124	2									
SELE	6401	broad.mit.edu	37	chr1	169698381	169698381	+	Frame_Shift_Del	DEL	G	G	-																															ttgagtggtgcattcaacctGggctggtccctgcaacatga																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:169698381delG	ENST00000333360.7	-	7	1175	c.1036delC	c.(1036-1038)agfs	p.Q346fs	SELE_ENST00000367776.1_Frame_Shift_Del_p.Q346fs|SELE_ENST00000367777.1_Frame_Shift_Del_p.Q346fs|SELE_ENST00000367775.1_Frame_Shift_Del_p.Q284fs|SELE_ENST00000367779.4_Frame_Shift_Del_p.Q346fs|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Frame_Shift_Del_p.Q346fs|SELE_ENST00000367774.1_Frame_Shift_Del_p.Q346fs|SELE_ENST00000367781.4_Frame_Shift_Del_p.Q346fs|SELE_ENST00000367780.4_Frame_Shift_Del_p.Q284fs	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	346	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CATTCAACCTGGGCTGGTCCC	0.488													31	140	---	---	---	---					-	169698381	G	-	169698381	7	5	77	1	0	1	0	1	0	0	0	0	14100	1357	47	0	824	0	SELE	1	169698381	Frame_Shift_Del	DEL	G	TCGA-CN-5356-01A-01D-1434-08	4318377	169698381	79552240	27	14499											
QSOX1	5768	broad.mit.edu	37	chr1	180165686	180165686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggaagcctgagatgatGaagtcccccacaaacaccac	13	5	9	14	0	0	3	0	3	0	1	1	5	1	4	5	1	2	0	5	1	3	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:180165686G>T	ENST00000367602.3	+	12	1832	c.1758G>T	c.(1756-1758)atG>atT	p.M586I	QSOX1_ENST00000367600.5_Missense_Mutation_p.M586I			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	586					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGAGATGATGAAGTCCCCCA	0.637													45	132					2.20914e-33	2.88383e-33	1	0	T	180165686	G	T	180165686	3	4	77	1	0	0	0	0	1	0	0	0	12965	1290	45	2	1804	2	QSOX1	1	180165686	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	10467305	180165686	69084935	28	14500											
LAMC1	3915	broad.mit.edu	37	chr1	183105651	183105651	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggccctgggcagtgcTgcggcggatgccacagaggc	7	4	17	13	2	0	1	0	0	0	1	0	2	0	2	2	5	4	3	2	5	0	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:183105651T>G	ENST00000258341.4	+	25	4502	c.4245T>G	c.(4243-4245)gcT>gcG	p.A1415A		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1415	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGCAGTGCTGCGGCGGATG	0.592													4	53					0	0	0	0	G	183105651	T	G	183105651	2	3	77	1	0	0	0	0	0	0	0	1	8667	1567	55	5		5	LAMC1	1	183105651	Silent	SNP	T	TCGA-CN-5356-01A-01D-1434-08	2939965	183105651	66144970	29	14501											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A																															aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:183515266_183515267insA	ENST00000367537.3	+	18	2680_2681	c.2485_2486insA	c.(2485-2487)aaafs	p.K829fs	SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45													10	174	---	---	---	---					A	183515267	-	A	183515266	7	5	77	1	0	1	1	0	0	0	0	0	14886	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-CN-5356-01A-01D-1434-08	409615	183515266	65735355	30	14502											
ZBTB41	360023	broad.mit.edu	37	chr1	197128771	197128771	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactcggagtgtcaggcatCtgaactggaaccagagttac	11	9	11	10	1	3	2	2	1	1	1	4	4	3	4	1	3	3	2	1	3	3	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:197128771C>T	ENST00000367405.4	-	10	2516	c.2448G>A	c.(2446-2448)caG>caA	p.Q816Q	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGTCAGGCATCTGAACTGGAA	0.463													52	120					0	0	0	0	T	197128771	C	T	197128771	2	4	77	1	0	0	0	0	0	0	0	1	17638	912	32	2		2	ZBTB41	1	197128771	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	13613505	197128771	52121850	31	14503											
CRB1	23418	broad.mit.edu	37	chr1	197390919	197390919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aattgattggaatcacattaCcctggagaacatctcgtctg	12	12	8	9	1	3	2	1	1	2	1	4	4	3	3	1	2	2	0	1	2	4	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:197390919C>T	ENST00000367397.1	+	2	962	c.104C>T	c.(103-105)aCc>aTc	p.T35I	CRB1_ENST00000367399.2_Missense_Mutation_p.T542I|CRB1_ENST00000544212.1_Missense_Mutation_p.T135I|CRB1_ENST00000543483.1_Missense_Mutation_p.P284S|CRB1_ENST00000535699.1_Missense_Mutation_p.T585I|CRB1_ENST00000367400.3_Missense_Mutation_p.T654I|CRB1_ENST00000538660.1_Missense_Mutation_p.T654I			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	654	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATCACATTACCCTGGAGAAC	0.448													68	218					0	0	0	0	T	197390919	C	T	197390919	3	4	77	1	0	0	0	0	1	0	0	0	3878	507	18	4	1983	4	CRB1	1	197390919	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	262148	197390919	51859702	32	14504											
CRB1	23418	broad.mit.edu	37	chr1	197404293	197404293	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagggtgtctaagtacaatAgaaatcggaggcatttatct	14	11	10	6	1	2	1	0	0	2	1	3	2	2	2	0	3	1	2	0	3	7	5	rs146270698	by1000genomes	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:197404293A>G	ENST00000367397.1	+	5	2301	c.1443A>G	c.(1441-1443)atA>atG	p.I481M	CRB1_ENST00000367399.2_Missense_Mutation_p.I988M|CRB1_ENST00000544212.1_Missense_Mutation_p.I581M|CRB1_ENST00000535699.1_Missense_Mutation_p.I1076M|CRB1_ENST00000367400.3_Missense_Mutation_p.I1100M|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1100	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAGTACAATAGAAATCGGAG	0.368													47	119					0	0	0	0	G	197404293	A	G	197404293	3	3	77	1	0	0	0	0	1	0	0	0	3878	410	15	5	3334	5	CRB1	1	197404293	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	13374	197404293	51846328	33	14505											
IPO9	55705	broad.mit.edu	37	chr1	201839980	201839980	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggcagagacgctcagtgtCatgcaggtaagagagcagtg	12	6	15	8	1	2	2	2	0	0	2	2	4	2	2	0	2	2	5	0	2	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:201839980C>T	ENST00000361565.4	+	18	2472	c.2403C>T	c.(2401-2403)gtC>gtT	p.V801V		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	801					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CGCTCAGTGTCATGCAGGTAA	0.498													12	70					0	0	0	0	T	201839980	C	T	201839980	2	4	77	1	0	0	0	0	0	0	0	1	7852	813	29	2		2	IPO9	1	201839980	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	4435687	201839980	47410641	34	14506											
IKBKE	9641	broad.mit.edu	37	chr1	206648211	206648211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtcccacccatagggcGgaagccggcagaaggtactg	9	6	13	13	2	1	1	0	0	1	1	2	2	2	2	3	4	2	2	3	4	4	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:206648211G>A	ENST00000367120.3	+	5	605	c.232G>A	c.(232-234)Gga>Aga	p.G78R	IKBKE_ENST00000537984.1_5'UTR|IKBKE_ENST00000462698.1_Intron	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	78	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCCATAGGGCGGAAGCCGGCA	0.617													7	50					0	0	0	0	A	206648211	G	A	206648211	3	1	77	1	0	0	0	0	1	0	0	0	7665	1117	39	1	242	1	IKBKE	1	206648211	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	4808231	206648211	42602410	35	14507											
DYRK3	8444	broad.mit.edu	37	chr1	206821624	206821624	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgactttgggtccagctgtTtcgagtaccagaagctctac	8	13	10	10	1	1	2	0	1	1	1	3	3	2	2	2	1	4	4	2	1	3	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:206821624T>G	ENST00000367106.1	+	4	1494	c.1021T>G	c.(1021-1023)Ttc>Gtc	p.F341V	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.F341V|DYRK3_ENST00000367109.2_Missense_Mutation_p.F361V			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	361	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTCCAGCTGTTTCGAGTACCA	0.453													12	188					0	0	0	0	G	206821624	T	G	206821624	3	3	77	1	0	0	0	0	1	0	0	0	4893	1841	64	5	1112	5	DYRK3	1	206821624	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	173413	206821624	42428997	36	14508											
FCAMR	83953	broad.mit.edu	37	chr1	207135666	207135666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgggacagcctcaccaCaaacaagcctctctgtggaa	12	7	9	13	0	2	0	1	0	1	0	3	2	2	2	3	2	3	1	3	2	3	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:207135666C>A	ENST00000324852.4	-	5	1018	c.544G>T	c.(544-546)Gtg>Ttg	p.V182L	FCAMR_ENST00000450945.2_Missense_Mutation_p.V182L|FCAMR_ENST00000400962.3_Missense_Mutation_p.V182L	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	137						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						AGCCTCACCACAAACAAGCCT	0.507													3	50					2.32078e-09	2.61902e-09	1	0	A	207135666	C	A	207135666	3	1	77	1	0	0	0	0	1	0	0	0	5817	478	17	4	1205	4	FCAMR	1	207135666	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	314042	207135666	42114955	37	14509											
INTS7	25896	broad.mit.edu	37	chr1	212118271	212118271	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggttattctggacagcaAtgggctctgcaggattccgg	7	11	14	9	1	2	0	0	0	2	0	3	2	3	2	1	5	2	5	1	5	2	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:212118271A>G	ENST00000366994.3	-	19	2560	c.2456T>C	c.(2455-2457)aTt>aCt	p.I819T	INTS7_ENST00000366992.3_Missense_Mutation_p.I799T|INTS7_ENST00000366993.3_Missense_Mutation_p.I805T|INTS7_ENST00000440600.2_Missense_Mutation_p.I770T|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	819					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTGGACAGCAATGGGCTCTGC	0.512													23	72					0	0	0	0	G	212118271	A	G	212118271	3	3	77	1	0	0	0	0	1	0	0	0	7836	101	4	5	440	5	INTS7	1	212118271	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	4982605	212118271	37132350	38	14510											
USH2A	7399	broad.mit.edu	37	chr1	216074210	216074210	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgaagactggttggagtGgcagatgaaagcctgggagg	11	7	17	6	0	0	4	0	2	0	2	0	6	0	6	2	5	1	2	2	5	2	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:216074210G>A	ENST00000366943.2	-	39	7724	c.7338C>T	c.(7336-7338)gcC>gcT	p.A2446A	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Silent_p.A2446A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2446	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTTGGAGTGGCAGATGAAA	0.517										HNSCC(13;0.011)			26	91					0	0	0	0	A	216074210	G	A	216074210	2	1	77	1	0	0	0	0	0	0	0	1	17132	1335	47	4		4	USH2A	1	216074210	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	3955939	216074210	33176411	39	14511											
RYR2	6262	broad.mit.edu	37	chr1	237666648	237666648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcttcctccacctgggtAtgctccttgttatgaagctg	6	16	8	11	0	1	1	0	1	1	0	4	1	4	1	4	1	2	4	4	1	3	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:237666648A>G	ENST00000366574.2	+	22	2773	c.2456A>G	c.(2455-2457)tAt>tGt	p.Y819C	RYR2_ENST00000542537.1_Missense_Mutation_p.Y803C|RYR2_ENST00000360064.6_Missense_Mutation_p.Y817C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	819					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCACCTGGGTATGCTCCTTGT	0.458													8	34					0	0	0	0	G	237666648	A	G	237666648	3	3	77	1	0	0	0	0	1	0	0	0	13854	449	16	5	2542	5	RYR2	1	237666648	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	21592438	237666648	11583973	40	14512											
RYR2	6262	broad.mit.edu	37	chr1	237935319	237935319	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatcttgcatagattttcaGaattatctgagaactcagac	13	15	6	7	0	4	4	2	1	2	4	4	5	4	4	0	0	2	1	0	0	5	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:237935319G>A	ENST00000366574.2	+	86	11882	c.11565G>A	c.(11563-11565)caG>caA	p.Q3855Q	RYR2_ENST00000542537.1_Silent_p.Q3839Q|RYR2_ENST00000360064.6_Silent_p.Q3861Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3855					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGATTTTCAGAATTATCTGA	0.343													5	7					0	0	0	0	A	237935319	G	A	237935319	2	1	77	1	0	0	0	0	0	0	0	1	13854	933	33	2		2	RYR2	1	237935319	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	268671	237935319	11315302	41	14513											
OR14A16	284532	broad.mit.edu	37	chr1	247978121	247978121	+	Frame_Shift_Del	DEL	C	C	-																															tttactttttggtgagctttCcctttatcaacatccccaga																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:247978121delC	ENST00000357627.1	-	1	910	c.911delG	c.(910-912)gafs	p.G304fs		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G304E(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGTGAGCTTTCCCTTTATCAA	0.343													34	104	---	---	---	---					-	247978121	C	-	247978121	7	5	77	1	0	1	0	1	0	0	0	0	11016	855	30	0	22	0	OR14A16	1	247978121	Frame_Shift_Del	DEL	C	TCGA-CN-5356-01A-01D-1434-08	10042802	247978121	1272500	42	14514											
SOX11	6664	broad.mit.edu	37	chr2	5832931	5832931	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacacggaggagggcgaattCatggcttgcagcccggtggc	8	6	17	10	3	1	0	1	0	0	0	1	4	1	2	1	6	2	2	1	6	1	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:5832931C>T	ENST00000322002.3	+	1	133	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	26					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGGGCGAATTCATGGCTTGCA	0.657													5	18					0	0	0	0	T	5832931	C	T	5832931	2	4	77	1	0	0	0	0	0	0	0	1	15030	825	29	2		2	SOX11	2	5832931	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08		5832931	237366442	43	14515											
NBAS	51594	broad.mit.edu	37	chr2	15567910	15567910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatgatcatcagggagtcaCcgttaaaactcaaatttaaa	17	10	7	7	1	4	1	4	1	0	0	4	3	4	2	1	1	1	1	1	1	6	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:15567910C>A	ENST00000281513.5	-	22	2373	c.2348G>T	c.(2347-2349)gGt>gTt	p.G783V	NBAS_ENST00000441750.1_Missense_Mutation_p.G783V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	783										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAGGGAGTCACCGTTAAAACT	0.398													6	27					0.00116845	0.00120848	1	0	A	15567910	C	A	15567910	3	1	77	1	0	0	0	0	1	0	0	0	10256	507	18	4	4891	4	NBAS	2	15567910	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	9734979	15567910	227631463	44	14516											
AGBL5	60509	broad.mit.edu	37	chr2	27281352	27281352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgtcagagcacagcagcCttactaatctacgggcctgg	10	9	10	12	1	2	1	1	0	1	1	2	1	2	1	2	2	6	2	2	2	4	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:27281352C>T	ENST00000360131.4	+	10	1915	c.1756C>T	c.(1756-1758)Ctt>Ttt	p.L586F	AGBL5_ENST00000323064.8_Missense_Mutation_p.L586F	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	586					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACAGCAGCCTTACTAATCT	0.557													47	115					0	0	0	0	T	27281352	C	T	27281352	3	4	77	1	0	0	0	0	1	0	0	0	378	681	24	4	1790	4	AGBL5	2	27281352	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	11713442	27281352	215918021	45	14517											
BIRC6	57448	broad.mit.edu	37	chr2	32770763	32770763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaacccttcctttccacGtccttcgtagcttgtttagc	5	16	5	15	2	0	0	0	0	0	0	5	0	4	0	5	0	3	3	5	0	3	8			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:32770763G>T	ENST00000421745.2	+	63	12780	c.12646G>T	c.(12646-12648)Gtc>Ttc	p.V4216F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4216					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCCTTTCCACGTCCTTCGTAG	0.413													92	286					1.11883e-47	1.50528e-47	1	0	T	32770763	G	T	32770763	3	4	77	1	0	0	0	0	1	0	0	0	1443	1145	40	3	12896	3	BIRC6	2	32770763	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	5489411	32770763	210428610	46	14518											
SIX2	10736	broad.mit.edu	37	chr2	45233600	45233600	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagcgggttgtggctgttAgaattggagttctcgttgtt	5	17	14	5	2	2	1	1	0	1	1	3	2	2	2	0	3	1	6	0	3	2	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:45233600A>G	ENST00000303077.6	-	2	904	c.585T>C	c.(583-585)tcT>tcC	p.S195S		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	195						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTGGCTGTTAGAATTGGAGT	0.587													21	185					0	0	0	0	G	45233600	A	G	45233600	2	3	77	1	0	0	0	0	0	0	0	1	14435	407	15	5		5	SIX2	2	45233600	Silent	SNP	A	TCGA-CN-5356-01A-01D-1434-08	12462837	45233600	197965773	47	14519											
ALMS1	7840	broad.mit.edu	37	chr2	73747023	73747023	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcatctgagatttttattAatgctgaagatcgtggacat	11	17	8	5	1	2	3	1	2	1	2	3	5	2	4	0	1	1	1	0	1	3	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:73747023A>G	ENST00000264448.6	+	11	9769	c.9658A>G	c.(9658-9660)Aat>Gat	p.N3220D	ALMS1_ENST00000409009.1_Missense_Mutation_p.N3178D	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3220					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GATTTTTATTAATGCTGAAGA	0.403													28	179					0	0	0	0	G	73747023	A	G	73747023	3	3	77	1	0	0	0	0	1	0	0	0	535	362	13	5	9700	5	ALMS1	2	73747023	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	28513423	73747023	169452350	48	14520											
THNSL2	55258	broad.mit.edu	37	chr2	88482287	88482287	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaccgcaatgacatcaTccacaggactgtccagcagg	13	6	10	12	1	1	2	1	2	0	0	3	3	3	3	3	2	2	2	3	2	2	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:88482287T>A	ENST00000324166.5	+	5	2563	c.872T>A	c.(871-873)aTc>aAc	p.I291N	THNSL2_ENST00000358591.2_Missense_Mutation_p.I291N|THNSL2_ENST00000377254.3_Missense_Mutation_p.I291N|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Missense_Mutation_p.I291N|THNSL2_ENST00000402102.1_Missense_Mutation_p.I291N|THNSL2_ENST00000496844.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	291					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AATGACATCATCCACAGGACT	0.527													31	98					0	0	0	0	A	88482287	T	A	88482287	3	1	77	1	0	0	0	0	1	0	0	0	15957	1435	50	5	890	5	THNSL2	2	88482287	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	14735264	88482287	154717086	49	14521											
LYG1	129530	broad.mit.edu	37	chr2	99909015	99909015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccacagtagttcaggccGtgacgtcttccaatcccaca	10	9	7	15	2	2	1	1	1	1	0	4	1	4	1	4	1	1	2	4	1	3	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:99909015G>T	ENST00000409448.1	-	5	448	c.132C>A	c.(130-132)caC>caA	p.H44Q	LYG1_ENST00000308528.4_Missense_Mutation_p.H44Q			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	44					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGTTCAGGCCGTGACGTCTTC	0.517													26	115					2.41591e-17	2.93712e-17	1	0	T	99909015	G	T	99909015	3	4	77	1	0	0	0	0	1	0	0	0	9169	1136	40	3	468	3	LYG1	2	99909015	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	11426728	99909015	143290358	50	14522											
MFSD9	84804	broad.mit.edu	37	chr2	103335339	103335339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgtaactgatgaggtagCctgtcaccttgggccgcacc	7	10	12	12	1	1	2	1	2	0	0	1	2	1	2	4	2	3	4	4	2	2	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:103335339C>T	ENST00000258436.5	-	6	1008	c.965G>A	c.(964-966)gGc>gAc	p.G322D		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	322					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GATGAGGTAGCCTGTCACCTT	0.607													14	73					0	0	0	0	T	103335339	C	T	103335339	3	4	77	1	0	0	0	0	1	0	0	0	9608	739	26	4	463	4	MFSD9	2	103335339	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	3426324	103335339	139864034	51	14523											
SH3RF3	344558	broad.mit.edu	37	chr2	110036087	110036088	+	Frame_Shift_Ins	INS	-	-	T																															cgcctcccaaggtccagctgINScccctcaacgtgtgagctgc																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:110036087_110036088insT	ENST00000309415.6	+	5	1392_1393	c.1392_1393insT	c.(1390-1395)ctccctfs	p.LP464fs		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	464	SH3 3.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGGTCCAGCTGCCCCTCAACGT	0.663													8	14	---	---	---	---					T	110036088	-	T	110036087	7	5	77	1	0	1	1	0	0	0	0	0	14348	1306	46	0	1410	0	SH3RF3	2	110036087	Frame_Shift_Ins	INS	-	TCGA-CN-5356-01A-01D-1434-08	6700748	110036087	133163286	52	14524											
CYP27C1	339761	broad.mit.edu	37	chr2	127957114	127957114	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgttgtcaacatgaatttgGcctgtttgaaaacagtattt	11	17	8	5	0	1	2	1	2	0	0	1	2	1	2	1	1	2	3	1	1	5	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:127957114G>A	ENST00000335247.7	-	4	520	c.388_splice	c.e4-1	p.S130_splice	CYP27C1_ENST00000409327.1_Splice_Site_p.S130_splice	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	130						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CATGAATTTGGCCTGTTTGAA	0.463													23	31					0	0	0	0	A	127957114	G	A	127957114	5	1	77	1	0	0	0	0	0	0	1	0	4192	1217	42	4	748	4	CYP27C1	2	127957114	Splice_Site	SNP	G	TCGA-CN-5356-01A-01D-1434-08	17921027	127957114	115242259	53	14525											
R3HDM1	23518	broad.mit.edu	37	chr2	136374308	136374308	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccaccccctgcaccagAgatatcacaggagaaccagg	13	4	8	16	0	1	2	1	0	0	2	2	4	2	2	6	2	2	1	6	2	2	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:136374308A>C	ENST00000264160.4	+	5	654	c.284A>C	c.(283-285)gAg>gCg	p.E95A	R3HDM1_ENST00000410054.1_Intron|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000409606.1_Missense_Mutation_p.E95A|R3HDM1_ENST00000329971.3_Intron	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	95							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCTGCACCAGAGATATCACAG	0.368													9	26					0	0	0	0	C	136374308	A	C	136374308	3	2	77	1	0	0	0	0	1	0	0	0	12969	304	11	5	294	5	R3HDM1	2	136374308	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	8417194	136374308	106825065	54	14526											
LRP1B	53353	broad.mit.edu	37	chr2	141032117	141032117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacacattcaacacttccatCatccccaatggtacatgatt	13	11	4	13	0	2	1	2	1	0	0	4	2	4	1	3	1	2	1	3	1	3	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:141032117C>T	ENST00000389484.3	-	85	13989	c.13018G>A	c.(13018-13020)Gat>Aat	p.D4340N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4340	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACACTTCCATCATCCCCAATG	0.403										TSP Lung(27;0.18)			58	66					0	0	0	0	T	141032117	C	T	141032117	3	4	77	1	0	0	0	0	1	0	0	0	9019	826	29	2	809	2	LRP1B	2	141032117	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	4657809	141032117	102167256	55	14527											
LRP1B	53353	broad.mit.edu	37	chr2	141108504	141108504	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgttattcttgaattatgTtcaatatgagaaatttgttg	11	19	7	4	0	2	2	1	2	1	1	2	3	2	2	1	0	0	3	1	0	6	8			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:141108504T>A	ENST00000389484.3	-	77	12725	c.11754A>T	c.(11752-11754)gaA>gaT	p.E3918D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3918					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGAATTATGTTCAATATGAG	0.338										TSP Lung(27;0.18)			107	120					0	0	0	0	A	141108504	T	A	141108504	3	1	77	1	0	0	0	0	1	0	0	0	9019	1722	60	5	2105	5	LRP1B	2	141108504	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	76387	141108504	102090869	56	14528											
TANC1	85461	broad.mit.edu	37	chr2	160084427	160084427	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgagacccttcaatgaatTaagggtttccctctatctca	11	13	6	11	0	3	2	2	2	2	1	5	3	4	2	2	1	0	1	2	1	4	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:160084427T>A	ENST00000263635.6	+	25	4238	c.4001T>A	c.(4000-4002)tTa>tAa	p.L1334*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.L1228*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1334						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTCAATGAATTAAGGGTTTCC	0.458													72	65					0	0	0	0	A	160084427	T	A	160084427	4	1	77	1	0	0	0	0	0	1	0	0	15635	1764	61	5	4091	5	TANC1	2	160084427	Nonsense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	18975923	160084427	83114946	57	14529											
KLHL23	151230	broad.mit.edu	37	chr2	170598005	170598005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagttcagagctacaattccGatatcaacgaatggagcctc	14	9	8	10	2	2	1	2	0	0	1	4	4	3	2	2	1	4	2	2	1	6	4	rs140221414		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:170598005G>A	ENST00000392647.2	+	3	1568	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	KLHL23_ENST00000272797.4_Missense_Mutation_p.D442N|KLHL23_ENST00000602521.1_5'UTR	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	442										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CTACAATTCCGATATCAACGA	0.433													12	122					0	0	0	0	A	170598005	G	A	170598005	3	1	77	1	0	0	0	0	1	0	0	0	8430	1058	37	1	1330	1	KLHL23	2	170598005	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	10513578	170598005	72601368	58	14530											
TTN	7273	broad.mit.edu	37	chr2	179582426	179582426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccccatccttgtaccaaGacacttgaagaggttctgag	12	9	9	11	0	1	4	0	2	1	2	2	5	2	4	4	1	2	2	4	1	4	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:179582426G>T	ENST00000589042.1	-	87	25399	c.25175C>A	c.(25174-25176)tCt>tAt	p.S8392Y	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8075Y|TTN_ENST00000342992.6_Missense_Mutation_p.S7148Y|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8075	Ig-like 66.						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)			CTTGTACCAAGACACTTGAAG	0.413													29	41					7.26314e-15	8.59828e-15	1	0	T	179582426	G	T	179582426	3	4	77	1	0	0	0	0	1	0	0	0	16831	942	33	2	79458	2	TTN	2	179582426	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	8984421	179582426	63616947	59	14531											
CWC22	57703	broad.mit.edu	37	chr2	180846600	180846600	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctttgtagcaggttcatCctgagcagaggaactctgag	9	13	11	8	0	3	3	1	2	2	1	4	4	4	4	1	2	3	4	1	2	2	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:180846600C>A	ENST00000410053.3	-	5	630	c.331G>T	c.(331-333)Gat>Tat	p.D111Y	CWC22_ENST00000295749.6_Missense_Mutation_p.D111Y	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	111						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GCAGGTTCATCCTGAGCAGAG	0.473													6	30					0.0215528	0.0219158	1	0	A	180846600	C	A	180846600	3	1	77	1	0	0	0	0	1	0	0	0	4100	855	30	2	2459	2	CWC22	2	180846600	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	1264174	180846600	62352773	60	14532											
COL5A2	1290	broad.mit.edu	37	chr2	189927938	189927938	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcccatgctcccgggcTgccctctgattcctatggag	6	9	12	14	1	1	1	0	1	1	0	3	3	3	2	4	3	2	2	4	3	2	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:189927938T>A	ENST00000374866.3	-	27	2103	c.1829A>T	c.(1828-1830)cAg>cTg	p.Q610L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	610					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCTCCCGGGCTGCCCTCTGAT	0.527													37	253					0	0	0	0	A	189927938	T	A	189927938	3	1	77	1	0	0	0	0	1	0	0	0	3727	1580	55	5	2782	5	COL5A2	2	189927938	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	9081338	189927938	53271435	61	14533											
DNAH7	56171	broad.mit.edu	37	chr2	196759837	196759837	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaatcttctcggaaaagaAtgcagtcatttgcaaattca	16	11	7	7	1	4	2	2	0	2	2	5	3	4	3	0	1	2	2	0	1	6	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:196759837A>G	ENST00000312428.6	-	30	4859	c.4759T>C	c.(4759-4761)Ttc>Ctc	p.F1587L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1587	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCGGAAAAGAATGCAGTCATT	0.373													45	60					0	0	0	0	G	196759837	A	G	196759837	3	3	77	1	0	0	0	0	1	0	0	0	4642	101	4	5	7459	5	DNAH7	2	196759837	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	6831899	196759837	46439536	62	14534											
MAP2	4133	broad.mit.edu	37	chr2	210558740	210558740	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcccatgcataaaaatGgtgacaaggagtttcaaaca	15	10	8	8	0	2	1	1	1	1	0	3	2	2	2	1	2	2	2	1	2	5	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:210558740G>C	ENST00000360351.4	+	7	2352	c.1846G>C	c.(1846-1848)Ggt>Cgt	p.G616R	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.G612R|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	616					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GCATAAAAATGGTGACAAGGA	0.443													30	65					0	0	0	0	C	210558740	G	C	210558740	3	2	77	1	0	0	0	0	1	0	0	0	9304	1348	47	4	1860	4	MAP2	2	210558740	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	13798903	210558740	32640633	63	14535											
ABCA12	26154	broad.mit.edu	37	chr2	215891574	215891574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggccaaactgtcagtcaCatttctcacacatgccaagt	11	11	6	13	0	4	0	3	0	2	0	5	0	4	0	2	1	2	0	2	1	2	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:215891574C>T	ENST00000272895.7	-	10	1369	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.V66M	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	384					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGTCAGTCACATTTCTCACA	0.388													104	217					0	0	0	0	T	215891574	C	T	215891574	3	4	77	1	0	0	0	0	1	0	0	0	30	478	17	4	6813	4	ABCA12	2	215891574	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	5332834	215891574	27307799	64	14536											
EPHA4	2043	broad.mit.edu	37	chr2	222307601	222307602	+	Frame_Shift_Ins	INS	-	-	A																															tcggatggtcaaactgtcccINSatgatgctggcctcactcag																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:222307601_222307602insA	ENST00000281821.2	-	11	2062_2063	c.2021_2022insT	c.(2020-2022)aggfs	p.R674fs	EPHA4_ENST00000392071.4_Frame_Shift_Ins_p.R623fs|EPHA4_ENST00000409938.1_Frame_Shift_Ins_p.R674fs|EPHA4_ENST00000409854.1_Frame_Shift_Ins_p.R674fs	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	674	Protein kinase.					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)		CAAACTGTCCCATGATGCTGGC	0.48													25	183	---	---	---	---					A	222307602	-	A	222307601	7	5	77	1	0	1	1	0	0	0	0	0	5207	594	21	0	966	0	EPHA4	2	222307601	Frame_Shift_Ins	INS	-	TCGA-CN-5356-01A-01D-1434-08	6416027	222307601	20891772	65	14537											
SCG2	7857	broad.mit.edu	37	chr2	224462778	224462778	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccactcttggagagcatcCtattttggaacaggtctgga	10	11	11	9	0	2	1	0	0	2	1	3	4	3	3	2	4	3	1	2	4	2	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:224462778C>G	ENST00000305409.2	-	2	1455	c.1223G>C	c.(1222-1224)aGg>aCg	p.R408T		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	408					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAGAGCATCCTATTTTGGAA	0.512													67	70					0	0	0	0	G	224462778	C	G	224462778	3	3	77	1	0	0	0	0	1	0	0	0	13977	681	24	4	634	4	SCG2	2	224462778	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2155177	224462778	18736595	66	14538											
DOCK10	55619	broad.mit.edu	37	chr2	225651808	225651808	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaattcaccacctctgccacTttcagatatgaccgatgaat	12	11	6	12	1	3	3	2	2	1	1	3	5	3	3	4	0	1	0	4	0	3	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:225651808T>C	ENST00000409592.3	-	50	5681	c.5568A>G	c.(5566-5568)aaA>aaG	p.K1856K	DOCK10_ENST00000258390.7_Silent_p.K1862K			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1862	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCTCTGCCACTTTCAGATATG	0.428													82	87					0	0	0	0	C	225651808	T	C	225651808	2	2	77	1	0	0	0	0	0	0	0	1	4721	1606	56	5		5	DOCK10	2	225651808	Silent	SNP	T	TCGA-CN-5356-01A-01D-1434-08	1189030	225651808	17547565	67	14539											
AGFG1	3267	broad.mit.edu	37	chr2	228337216	228337216	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccggcctcccgcacaacCgaaagtgcttcgactgcgac	9	6	10	16	5	0	1	0	1	0	0	2	4	1	1	4	1	3	2	4	1	2	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:228337216C>G	ENST00000310078.7	+	1	339	c.79C>G	c.(79-81)Cga>Gga	p.R27G	AGFG1_ENST00000409979.2_Missense_Mutation_p.R27G|AGFG1_ENST00000373671.3_Missense_Mutation_p.R27G|AGFG1_ENST00000409315.1_Missense_Mutation_p.R27G|AGFG1_ENST00000409171.1_Missense_Mutation_p.R27G	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	27	Arf-GAP.				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CCCGCACAACCGAAAGTGCTT	0.667													13	11					0	0	0	0	G	228337216	C	G	228337216	3	3	77	1	0	0	0	0	1	0	0	0	380	644	23	3	81	3	AGFG1	2	228337216	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2685408	228337216	14862157	68	14540											
CNTN4	152330	broad.mit.edu	37	chr3	2778011	2778011	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagttaaaggaaatccAaaacctcatatcaggtttgt	15	12	8	6	0	2	1	2	1	0	0	3	2	3	2	2	2	1	2	2	2	7	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:2778011A>T	ENST00000397461.1	+	4	552	c.168A>T	c.(166-168)ccA>ccT	p.P56P	CNTN4_ENST00000418658.1_Silent_p.P56P|CNTN4_ENST00000427331.1_Silent_p.P56P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	56	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAGGAAATCCAAAACCTCATA	0.338													32	105					0	0	0	0	T	2778011	A	T	2778011	2	4	77	1	0	0	0	0	0	0	0	1	3673	117	5	5		5	CNTN4	3	2778011	Silent	SNP	A	TCGA-CN-5356-01A-01D-1434-08		2778011	195244419	69	14541											
WNT7A	7476	broad.mit.edu	37	chr3	13916474	13916474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcccgaagacggtgcGctctcccagtgcagagcagt	7	8	11	15	3	1	2	0	0	1	2	4	3	3	2	3	1	3	3	3	1	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:13916474G>A	ENST00000285018.4	-	2	572	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	90					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AAGACGGTGCGCTCTCCCAGT	0.582													15	38					0	0	0	0	A	13916474	G	A	13916474	3	1	77	1	0	0	0	0	1	0	0	0	17490	1087	38	1	793	1	WNT7A	3	13916474	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	11138463	13916474	184105956	70	14542											
MYRIP	25924	broad.mit.edu	37	chr3	40275391	40275391	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaacatctccacagaagtCctgaaagtcatcaatgccac	14	8	6	13	0	3	2	2	1	1	1	5	2	4	2	3	0	3	1	3	0	4	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:40275391C>A	ENST00000302541.6	+	12	2289	c.1947C>A	c.(1945-1947)gtC>gtA	p.V649V	MYRIP_ENST00000396217.3_Silent_p.V560V|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000444716.1_Silent_p.V649V|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Silent_p.V462V	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	649	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCACAGAAGTCCTGAAAGTCA	0.488													26	81					3.01185e-09	3.36741e-09	1	0	A	40275391	C	A	40275391	2	1	77	1	0	0	0	0	0	0	0	1	10170	842	30	2		2	MYRIP	3	40275391	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	26358917	40275391	157747039	71	14543											
STAB1	23166	broad.mit.edu	37	chr3	52558127	52558127	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccaggcggaagatgaTgctgatgacgacttctcacc	9	9	11	12	2	1	4	1	3	1	1	3	6	2	5	2	2	2	2	2	2	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:52558127T>C	ENST00000321725.6	+	68	7630	c.7554T>C	c.(7552-7554)gaT>gaC	p.D2518D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2518					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGGAAGATGATGCTGATGACG	0.617													38	236					0	0	0	0	C	52558127	T	C	52558127	2	2	77	1	0	0	0	0	0	0	0	1	15327	1461	51	5		5	STAB1	3	52558127	Silent	SNP	T	TCGA-CN-5356-01A-01D-1434-08	12282736	52558127	145464303	72	14544											
FAM19A1	407738	broad.mit.edu	37	chr3	68055801	68055801	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcgatgtcctgggtccTgtatttgtggataagtgctt	5	16	12	8	1	1	0	0	0	1	0	3	2	3	1	2	2	2	2	2	2	2	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:68055801T>C	ENST00000478136.1	+	2	522	c.32T>C	c.(31-33)cTg>cCg	p.L11P	FAM19A1_ENST00000496687.1_Missense_Mutation_p.L11P	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	11						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TCCTGGGTCCTGTATTTGTGG	0.522													31	224					0	0	0	0	C	68055801	T	C	68055801	3	2	77	1	0	0	0	0	1	0	0	0	5574	1580	55	5	34	5	FAM19A1	3	68055801	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	15497674	68055801	129966629	73	14545											
PDZRN3	23024	broad.mit.edu	37	chr3	73433788	73433788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagctcgcggaagcgctcGcactcgtccaccgggatccc	7	5	13	16	6	0	0	0	0	0	0	5	3	2	3	3	3	2	3	3	3	1	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:73433788G>A	ENST00000263666.4	-	10	2043	c.1929C>T	c.(1927-1929)tgC>tgT	p.C643C	PDZRN3_ENST00000479530.1_Silent_p.C360C|PDZRN3_ENST00000462146.2_Silent_p.C300C|PDZRN3_ENST00000466780.1_Silent_p.C300C|PDZRN3_ENST00000535920.1_Silent_p.C365C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	643							ubiquitin-protein ligase activity|zinc ion binding	p.C643C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGAAGCGCTCGCACTCGTCCA	0.657													34	109					0	0	0	0	A	73433788	G	A	73433788	2	1	77	1	0	0	0	0	0	0	0	1	11780	1079	38	1		1	PDZRN3	3	73433788	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	5377987	73433788	124588642	74	14546											
ROBO2	6092	broad.mit.edu	37	chr3	77089996	77089996	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttatatgttcgggttgaTggtaagttaaaaatgctttc	10	19	9	3	1	0	1	0	1	0	0	2	1	0	1	0	2	1	5	0	2	6	9			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:77089996T>A	ENST00000461745.1	+	1	960	c.61_splice	c.e1+1	p.D20_splice	ROBO2_ENST00000332191.8_Splice_Site_p.D20_splice|ROBO2_ENST00000487694.3_Intron	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	20					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTCGGGTTGATGGTAAGTTAA	0.363													31	229					0	0	0	0	A	77089996	T	A	77089996	5	1	77	1	0	0	0	0	0	0	1	0	13599	1478	51	5	62	5	ROBO2	3	77089996	Splice_Site	SNP	T	TCGA-CN-5356-01A-01D-1434-08	3656208	77089996	120932434	75	14547											
OR5K2	402135	broad.mit.edu	37	chr3	98217106	98217106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgtgttgaccctttcatCaatgaactggttctattcat	8	17	6	10	0	4	2	3	2	1	0	5	2	5	2	2	1	1	2	2	1	3	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:98217106C>T	ENST00000427338.1	+	1	659	c.582C>T	c.(580-582)atC>atT	p.I194I	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACCCTTTCATCAATGAACTGG	0.353													204	360					0	0	0	0	T	98217106	C	T	98217106	2	4	77	1	0	0	0	0	0	0	0	1	11238	816	29	2		2	OR5K2	3	98217106	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	21127110	98217106	99805324	76	14548											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133831	119133831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcctgaaaggggcagaggctCctcccaaccagaagggacca	12	3	13	13	0	0	3	0	1	0	2	2	4	2	4	5	4	1	2	5	4	3	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:119133831C>T	ENST00000264245.4	+	12	3587	c.3055C>T	c.(3055-3057)Cct>Tct	p.P1019S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1019					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGCAGAGGCTCCTCCCAACCA	0.592													21	95					0	0	0	0	T	119133831	C	T	119133831	3	4	77	1	0	0	0	0	1	0	0	0	882	855	30	2	3101	2	ARHGAP31	3	119133831	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	20916725	119133831	78888599	77	14549											
KALRN	8997	broad.mit.edu	37	chr3	124438313	124438313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccgggtgaaccaagggaCgtagccatctcccagcccct	10	5	10	16	2	1	1	0	1	1	0	2	2	1	2	6	2	4	1	6	2	4	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:124438313C>T	ENST00000360013.3	+	60	9084	c.8957C>T	c.(8956-8958)aCg>aTg	p.T2986M	KALRN_ENST00000428018.2_Missense_Mutation_p.T1257M|KALRN_ENST00000291478.4_Missense_Mutation_p.T1289M	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2985					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AACCAAGGGACGTAGCCATCT	0.483													32	48					0	0	0	0	T	124438313	C	T	124438313	3	4	77	1	0	0	0	0	1	0	0	0	8028	536	19	1	9351	1	KALRN	3	124438313	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	5304482	124438313	73584117	78	14550											
KIAA1257	57501	broad.mit.edu	37	chr3	128711936	128711937	+	Frame_Shift_Ins	INS	-	-	G																															gaatttgcaggggaccacgtINSggggcacgtcggagctgaaa																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:128711936_128711937insG	ENST00000265068.5	-	2	378_379	c.211_212insC	c.(211-213)cgtfs	p.R71fs	KIAA1257_ENST00000511438.1_Frame_Shift_Ins_p.R71fs|KIAA1257_ENST00000510149.1_Intron	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	71										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGGGACCACGTGGGGCACGTCG	0.574													105	327	---	---	---	---					G	128711937	-	G	128711936	7	5	77	1	0	1	1	0	0	0	0	0	8269	1696	59	0	1045	0	KIAA1257	3	128711936	Frame_Shift_Ins	INS	-	TCGA-CN-5356-01A-01D-1434-08	4273623	128711936	69310494	79	14551											
CPNE4	131034	broad.mit.edu	37	chr3	131404769	131404769	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcatcattcatacgaaaaaTttccagaaatgggtcagatt	16	12	6	7	1	4	2	4	0	0	2	5	3	5	2	1	1	1	0	1	1	4	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:131404769T>A	ENST00000512055.1	-	10	2667	c.541A>T	c.(541-543)Att>Ttt	p.I181F	CPNE4_ENST00000502818.1_Missense_Mutation_p.I199F|CPNE4_ENST00000512332.1_Missense_Mutation_p.I199F|CPNE4_ENST00000511604.1_Missense_Mutation_p.I181F|CPNE4_ENST00000429747.1_Missense_Mutation_p.I181F			Q96A23	CPNE4_HUMAN	copine IV	181	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ATACGAAAAATTTCCAGAAAT	0.383													17	62					0	0	0	0	A	131404769	T	A	131404769	3	1	77	1	0	0	0	0	1	0	0	0	3844	1493	52	5	1176	5	CPNE4	3	131404769	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	2692833	131404769	66617661	80	14552											
EPHB1	2047	broad.mit.edu	37	chr3	134851723	134851723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgctgtgacgacaatGtggagtttgtgcccaggcag	7	9	14	11	2	0	1	0	1	0	0	1	3	1	2	2	2	1	4	2	2	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:134851723G>C	ENST00000398015.3	+	5	1499	c.1129G>C	c.(1129-1131)Gtg>Ctg	p.V377L	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	377	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGACGACAATGTGGAGTTTGT	0.617													5	53					0	0	0	0	C	134851723	G	C	134851723	3	2	77	1	0	0	0	0	1	0	0	0	5212	1377	48	4	1147	4	EPHB1	3	134851723	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	3446954	134851723	63170707	81	14553											
CLSTN2	64084	broad.mit.edu	37	chr3	140123507	140123507	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatctatgacagcattcTgcaggtggaggccattgacg	11	9	12	9	1	2	3	0	2	2	1	2	4	2	4	1	3	2	2	1	3	2	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:140123507T>C	ENST00000458420.3	+	4	726	c.536T>C	c.(535-537)cTg>cCg	p.L179P		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	179	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GACAGCATTCTGCAGGTGGAG	0.507										HNSCC(16;0.037)			40	143					0	0	0	0	C	140123507	T	C	140123507	3	2	77	1	0	0	0	0	1	0	0	0	3592	1580	55	5	550	5	CLSTN2	3	140123507	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	5271784	140123507	57898923	82	14554											
XRN1	54464	broad.mit.edu	37	chr3	142141448	142141448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttctggcaggatggtaaCatatgttccataaagaagag	15	10	11	5	0	1	2	0	0	1	2	2	3	2	3	1	3	1	4	1	3	6	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:142141448C>T	ENST00000264951.4	-	8	1060	c.943G>A	c.(943-945)Gtt>Att	p.V315I	XRN1_ENST00000392981.2_Missense_Mutation_p.V315I|XRN1_ENST00000463916.1_Missense_Mutation_p.V315I|XRN1_ENST00000544157.1_Missense_Mutation_p.V105I	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	315					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGGATGGTAACATATGTTCCA	0.358													74	128					0	0	0	0	T	142141448	C	T	142141448	3	4	77	1	0	0	0	0	1	0	0	0	17555	478	17	4	4317	4	XRN1	3	142141448	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2017941	142141448	55880982	83	14555											
ATR	545	broad.mit.edu	37	chr3	142217599	142217599	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcccagtctgacactccAtgttgtagattttccatctg	7	15	7	12	0	2	2	0	1	2	1	5	2	5	2	3	0	0	2	3	0	1	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:142217599A>T	ENST00000350721.4	-	32	5519	c.5398T>A	c.(5398-5400)Tgg>Agg	p.W1800R	ATR_ENST00000383101.3_Missense_Mutation_p.W1736R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1800	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTGACACTCCATGTTGTAGAT	0.378								Other conserved DNA damage response genes					36	65					0	0	0	0	T	142217599	A	T	142217599	3	4	77	1	0	0	0	0	1	0	0	0	1208	217	8	5	2600	5	ATR	3	142217599	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	76151	142217599	55804831	84	14556											
PLOD2	5352	broad.mit.edu	37	chr3	145828169	145828169	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatctgctgcaaagaccacTttgtggtttgccttttggaa	8	14	9	10	0	1	1	0	0	1	1	1	2	1	2	3	2	3	3	3	2	2	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:145828169T>G	ENST00000282903.5	-	4	582	c.405A>C	c.(403-405)aaA>aaC	p.K135N	PLOD2_ENST00000494950.1_Missense_Mutation_p.K80N|PLOD2_ENST00000360060.3_Missense_Mutation_p.K135N	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	135					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CAAAGACCACTTTGTGGTTTG	0.388													39	117					0	0	0	0	G	145828169	T	G	145828169	3	3	77	1	0	0	0	0	1	0	0	0	12174	1606	56	5	1939	5	PLOD2	3	145828169	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	3610570	145828169	52194261	85	14557											
CPB1	1360	broad.mit.edu	37	chr3	148558763	148558763	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgctatttacctcctgaagGtaatcatttttaaccatgac	11	14	6	10	1	1	2	1	2	0	0	2	2	2	2	3	1	2	2	3	1	5	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:148558763G>T	ENST00000491148.1	+	6	808		c.e6+1		CPB1_ENST00000282957.4_Splice_Site			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)						proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CCTCCTGAAGGTAATCATTTT	0.443													24	121					5.35356e-11	6.15659e-11	1	0	T	148558763	G	T	148558763	5	4	77	1	0	0	0	0	0	0	1	0	3826	1275	44	4	493	4	CPB1	3	148558763	Splice_Site	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2730594	148558763	49463667	86	14558											
DHX36	170506	broad.mit.edu	37	chr3	154013097	154013097	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctggttaactgtaggcatCagtgaatgtaaaggtataat	13	13	11	4	0	2	1	1	1	1	0	2	1	2	1	0	3	1	5	0	3	7	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:154013097C>T	ENST00000496811.1	-	13	1661	c.1581G>A	c.(1579-1581)ctG>ctA	p.L527L	DHX36_ENST00000329463.5_Intron|DHX36_ENST00000308361.6_Silent_p.L527L|DHX36_ENST00000544526.1_Intron	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	527	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGTAGGCATCAGTGAATGTA	0.303													14	39					0	0	0	0	T	154013097	C	T	154013097	2	4	77	1	0	0	0	0	0	0	0	1	4546	813	29	2		2	DHX36	3	154013097	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	5454334	154013097	44009333	87	14559											
GPR149	344758	broad.mit.edu	37	chr3	154055728	154055728	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctttcctggagtaacgTagggatggagatctgacttg	8	15	12	6	1	2	2	0	1	2	1	3	5	3	4	1	3	1	2	1	3	2	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:154055728T>A	ENST00000389740.2	-	4	2055	c.1956A>T	c.(1954-1956)ctA>ctT	p.L652L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	652						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGAGTAACGTAGGGATGGAG	0.428													77	251					0	0	0	0	A	154055728	T	A	154055728	2	1	77	1	0	0	0	0	0	0	0	1	6703	1625	57	5		5	GPR149	3	154055728	Silent	SNP	T	TCGA-CN-5356-01A-01D-1434-08	42631	154055728	43966702	88	14560											
MME	4311	broad.mit.edu	37	chr3	154859798	154859798	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccattcagctggttgaatTtcacaaatgaaatcatgtca	14	12	7	8	0	4	2	4	2	0	0	4	2	4	2	1	1	2	2	1	1	3	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:154859798T>G	ENST00000460393.1	+	11	1096	c.976T>G	c.(976-978)Ttc>Gtc	p.F326V	MME_ENST00000462745.1_Missense_Mutation_p.F326V|MME_ENST00000360490.2_Missense_Mutation_p.F326V|MME_ENST00000493237.1_Missense_Mutation_p.F326V|MME_ENST00000492661.1_Missense_Mutation_p.F326V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	326					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CTGGTTGAATTTCACAAATGA	0.358													58	133					0	0	0	0	G	154859798	T	G	154859798	3	3	77	1	0	0	0	0	1	0	0	0	9714	1841	64	5	1014	5	MME	3	154859798	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	804070	154859798	43162632	89	14561											
RSRC1	51319	broad.mit.edu	37	chr3	158072664	158072664	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaccagctgaacaggccAaagccagactacagctggtt	13	5	10	13	0	0	2	0	1	0	1	0	2	0	2	4	2	6	3	4	2	3	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:158072664A>C	ENST00000464171.1	+	5	501	c.376A>C	c.(376-378)Aaa>Caa	p.K126Q	RSRC1_ENST00000480820.1_Missense_Mutation_p.K184Q|RSRC1_ENST00000312179.6_Missense_Mutation_p.K126Q|RSRC1_ENST00000295930.3_Missense_Mutation_p.K184Q|RSRC1_ENST00000475278.2_Missense_Mutation_p.K184Q	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	184	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TGAACAGGCCAAAGCCAGACT	0.358													6	30					0	0	0	0	C	158072664	A	C	158072664	3	2	77	1	0	0	0	0	1	0	0	0	13799	131	5	5	568	5	RSRC1	3	158072664	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	3212866	158072664	39949766	90	14562											
PEX5L	51555	broad.mit.edu	37	chr3	179593166	179593166	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagctcttttgatccagttCtagatgaggatgattttctc	9	16	9	7	0	3	5	0	3	3	2	5	6	4	6	1	1	1	2	1	1	1	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:179593166C>G	ENST00000467460.1	-	6	935	c.605G>C	c.(604-606)aGa>aCa	p.R202T	PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000392649.3_Missense_Mutation_p.R94T|PEX5L_ENST00000263962.8_Missense_Mutation_p.R200T|PEX5L_ENST00000485199.1_Missense_Mutation_p.R167T|PEX5L_ENST00000472994.1_Missense_Mutation_p.R143T|PEX5L_ENST00000476138.1_Missense_Mutation_p.R159T|PEX5L_ENST00000468741.1_Missense_Mutation_p.R10T|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.R178T|PEX5L_ENST00000464614.1_Missense_Mutation_p.R94T	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	202					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGATCCAGTTCTAGATGAGGA	0.378													43	202					0	0	0	0	G	179593166	C	G	179593166	3	3	77	1	0	0	0	0	1	0	0	0	11821	913	32	2	1315	2	PEX5L	3	179593166	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	21520502	179593166	18429264	91	14563											
CRYGS	1427	broad.mit.edu	37	chr3	186257301	186257301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactttaatggagttgcagCgacttaggtatgtgtggaaa	11	12	12	6	1	0	0	0	0	0	0	0	3	0	2	1	3	2	3	1	3	4	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:186257301C>T	ENST00000392499.2	-	3	446	c.107G>A	c.(106-108)cGc>cAc	p.R36H	CRYGS_ENST00000307944.5_Missense_Mutation_p.R36H	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	36	Beta/gamma crystallin 'Greek key' 1.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		GGAGTTGCAGCGACTTAGGTA	0.463													38	138					0	0	0	0	T	186257301	C	T	186257301	3	4	77	1	0	0	0	0	1	0	0	0	3949	768	27	1	437	1	CRYGS	3	186257301	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	6664135	186257301	11765129	92	14564											
ATP13A5	344905	broad.mit.edu	37	chr3	193007781	193007782	+	Frame_Shift_Ins	INS	-	-	G																															aaaatattgaaagcagtaaaINSgggggagaaaggagctgtcc																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:193007781_193007782insG	ENST00000342358.4	-	26	3032_3033	c.2915_2916insC	c.(2914-2916)cttfs	p.L972fs	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	972					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)		AAAGCAGTAAAGGGGGAGAAAG	0.421													29	124	---	---	---	---					G	193007782	-	G	193007781	7	5	77	1	0	1	1	0	0	0	0	0	1131	59	3	0	758	0	ATP13A5	3	193007781	Frame_Shift_Ins	INS	-	TCGA-CN-5356-01A-01D-1434-08	6750480	193007781	5014649	93	14565											
DGKQ	1609	broad.mit.edu	37	chr4	954932	954932	+	Frame_Shift_Del	DEL	G	G	-																															ggccttgaggagcgtgactcGgaagtaggaaccctgggcaa																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:954932delG	ENST00000273814.3	-	22	2705	c.2632delC	c.(2632-2634)gafs	p.R878fs		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	878					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCGTGACTCGGAAGTAGGAA	0.692													18	57	---	---	---	---					-	954932	G	-	954932	7	5	77	1	0	1	0	1	0	0	0	0	4510	1124	39	0	204	0	DGKQ	4	954932	Frame_Shift_Del	DEL	G	TCGA-CN-5356-01A-01D-1434-08		954932	190199344	94	14566											
SLIT2	9353	broad.mit.edu	37	chr4	20550181	20550181	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgacccagctcctcaccTtgtgagtgtgaaagtgtggt	9	11	11	10	0	1	3	1	3	0	0	2	3	2	3	3	1	1	1	3	1	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:20550181T>A	ENST00000504154.1	+	23	2668	c.2417_splice	c.e23+1	p.L806_splice	SLIT2_ENST00000503823.1_Splice_Site_p.L798_splice|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Splice_Site_p.L802_splice|SLIT2_ENST00000273739.5_Splice_Site_p.L810_splice	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	806					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCTCCTCACCTTGTGAGTGTG	0.403													28	72					0	0	0	0	A	20550181	T	A	20550181	5	1	77	1	0	0	0	0	0	0	1	0	14828	1623	56	5	2506	5	SLIT2	4	20550181	Splice_Site	SNP	T	TCGA-CN-5356-01A-01D-1434-08	19595249	20550181	170604095	95	14567											
GBA3	57733	broad.mit.edu	37	chr4	22694648	22694648	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcttaaaccatggctttcCctgcaggatttggatgggcg	7	13	11	10	1	1	0	0	0	1	0	2	2	2	2	2	4	2	2	2	4	2	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:22694648C>A	ENST00000503442.1	+	0	101				GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						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						CATGGCTTTCCCTGCAGGATT	0.527													5	13					1.23904e-05	1.3299e-05	1	0	A	22694648	C	A	22694648	1	1	77	0	1	0	0	0	0	0	0	0	6317	623	22	4		4	GBA3	4	22694648	RNA	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2144467	22694648	168459628	96	14568											
PCDH7	5099	broad.mit.edu	37	chr4	31144302	31144302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgccatcatgggtgaccGcaacagaaacctcctgaaca	12	5	10	14	2	1	3	1	2	0	1	2	3	2	3	5	2	3	1	5	2	3	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:31144302G>T	ENST00000543491.1	+	3	3599	c.3599G>T	c.(3598-3600)cGc>cTc	p.R1200L				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATGGGTGACCGCAACAGAAAC	0.502													18	139					1.56452e-12	1.83414e-12	1	0	T	31144302	G	T	31144302	3	4	77	1	0	0	0	0	1	0	0	0	11587	1087	38	3	3694	3	PCDH7	4	31144302	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	8449654	31144302	160009974	97	14569											
SHISA3	152573	broad.mit.edu	37	chr4	42403085	42403085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcattgcgttcatcatcCtgggctctgtagtggctatt	5	17	9	10	1	5	0	3	0	2	0	6	0	6	0	1	2	1	4	1	2	2	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:42403085C>G	ENST00000319234.4	+	2	552	c.334C>G	c.(334-336)Ctg>Gtg	p.L112V		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	112					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GTTCATCATCCTGGGCTCTGT	0.502													78	235					0	0	0	0	G	42403085	C	G	42403085	3	3	77	1	0	0	0	0	1	0	0	0	14369	680	24	4	340	4	SHISA3	4	42403085	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	11258783	42403085	148751191	98	14570											
LPHN3	23284	broad.mit.edu	37	chr4	62897294	62897294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattctctacagggaatgtTtatatttattttccattgtg	10	19	6	6	0	1	0	0	0	1	0	3	1	2	1	1	1	1	1	1	1	6	10			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:62897294T>C	ENST00000512091.1	+	22	4100	c.3353T>C	c.(3352-3354)tTt>tCt	p.F1118S	LPHN3_ENST00000506720.1_Missense_Mutation_p.F1186S|LPHN3_ENST00000545650.1_Missense_Mutation_p.F1118S|LPHN3_ENST00000507164.1_Missense_Mutation_p.F1177S|LPHN3_ENST00000509896.1_Missense_Mutation_p.F1186S|LPHN3_ENST00000508946.1_Missense_Mutation_p.F1118S|LPHN3_ENST00000507625.1_Missense_Mutation_p.F1177S|LPHN3_ENST00000511324.1_Missense_Mutation_p.F1177S|LPHN3_ENST00000514996.1_Missense_Mutation_p.F1109S|LPHN3_ENST00000508693.1_Missense_Mutation_p.F1186S|LPHN3_ENST00000504896.1_Missense_Mutation_p.F1118S|LPHN3_ENST00000514591.1_Missense_Mutation_p.F1118S|LPHN3_ENST00000514157.1_Missense_Mutation_p.F1109S|LPHN3_ENST00000506700.1_Missense_Mutation_p.F1109S|LPHN3_ENST00000506746.1_Missense_Mutation_p.F1177S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1096					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CAGGGAATGTTTATATTTATT	0.348													22	106					0	0	0	0	C	62897294	T	C	62897294	3	2	77	1	0	0	0	0	1	0	0	0	8981	1841	64	5	3431	5	LPHN3	4	62897294	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	20494209	62897294	128256982	99	14571											
TIGD2	166815	broad.mit.edu	37	chr4	90034966	90034966	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagaagcatttgaaatccAagggacttttagaaaaagca	18	9	8	6	0	0	3	0	1	0	2	1	4	1	4	1	1	3	2	1	1	7	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:90034966A>C	ENST00000317005.2	+	1	999	c.841A>C	c.(841-843)Aag>Cag	p.K281Q		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	281	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TTTGAAATCCAAGGGACTTTT	0.388													21	89					0	0	0	0	C	90034966	A	C	90034966	3	2	77	1	0	0	0	0	1	0	0	0	15990	131	5	5	843	5	TIGD2	4	90034966	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	27137672	90034966	101119310	100	14572											
GPRIN3	285513	broad.mit.edu	37	chr4	90170592	90170592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcacagatggctccctGcctttccccttcaggtccac	7	10	8	16	0	2	2	2	0	0	2	5	2	5	2	5	2	1	1	5	2	0	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:90170592G>T	ENST00000333209.3	-	2	1188	c.670C>A	c.(670-672)Cag>Aag	p.Q224K		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	224										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ATGGCTCCCTGCCTTTCCCCT	0.537													41	80					4.14481e-20	5.17298e-20	1	0	T	90170592	G	T	90170592	3	4	77	1	0	0	0	0	1	0	0	0	6781	1328	46	4	1664	4	GPRIN3	4	90170592	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	135626	90170592	100983684	101	14573											
SEC24B	10427	broad.mit.edu	37	chr4	110445990	110445990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaggtggtacaacatcttgGccctgcaactgatttttata	10	15	8	8	0	1	1	0	1	1	0	1	1	1	1	1	3	4	2	1	3	6	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:110445990G>A	ENST00000265175.5	+	15	2580	c.2525G>A	c.(2524-2526)gGc>gAc	p.G842D	SEC24B_ENST00000399100.2_Missense_Mutation_p.G807D|SEC24B_ENST00000504968.2_Missense_Mutation_p.G872D	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	842					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAACATCTTGGCCCTGCAACT	0.358													35	113					0	0	0	0	A	110445990	G	A	110445990	3	1	77	1	0	0	0	0	1	0	0	0	14082	1203	42	4	2583	4	SEC24B	4	110445990	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	20275398	110445990	80708286	102	14574											
ANK2	287	broad.mit.edu	37	chr4	114278087	114278087	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacactgatcagccaaaaatCtgtgatggccatggatgtga	13	9	11	8	0	2	3	1	3	1	0	2	5	2	4	2	2	1	0	2	2	2	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:114278087C>T	ENST00000357077.4	+	38	8366	c.8313C>T	c.(8311-8313)atC>atT	p.I2771I	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.I2738I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2738					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCCAAAAATCTGTGATGGCC	0.478													21	86					0	0	0	0	T	114278087	C	T	114278087	2	4	77	1	0	0	0	0	0	0	0	1	621	903	32	2		2	ANK2	4	114278087	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	3832097	114278087	76876189	103	14575											
KIAA1109	84162	broad.mit.edu	37	chr4	123113395	123113395	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggaatataggacttgttccgGaagaaacagaagaaaatatt	18	9	10	4	1	0	3	0	0	0	3	1	6	1	6	1	3	1	1	1	3	9	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:123113395G>C	ENST00000264501.4	+	11	1286	c.913G>C	c.(913-915)Gaa>Caa	p.E305Q	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E305Q|KIAA1109_ENST00000455637.1_Missense_Mutation_p.E305Q			Q2LD37	K1109_HUMAN	KIAA1109	305					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTTGTTCCGGAAGAAACAGA	0.363													14	53					0	0	0	0	C	123113395	G	C	123113395	3	2	77	1	0	0	0	0	1	0	0	0	8259	1175	41	2	947	2	KIAA1109	4	123113395	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	8835308	123113395	68040881	104	14576											
IL21	59067	broad.mit.edu	37	chr4	123542011	123542011	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttaccaagtcattcacAtaatttttcagctgatcaac	13	14	4	10	0	5	1	4	1	1	0	5	1	5	1	1	0	3	1	1	0	4	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:123542011A>G	ENST00000264497.3	-	1	213	c.156T>C	c.(154-156)taT>taC	p.Y52Y	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	45					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AGTCATTCACATAATTTTTCA	0.343													35	103					0	0	0	0	G	123542011	A	G	123542011	2	3	77	1	0	0	0	0	0	0	0	1	7723	224	8	5		5	IL21	4	123542011	Silent	SNP	A	TCGA-CN-5356-01A-01D-1434-08	428616	123542011	67612265	105	14577											
FGF2	2247	broad.mit.edu	37	chr4	123748456	123748456	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggggcttcttcctgcgcAtccaccccgacggccgagtt	5	8	12	16	5	1	0	0	0	1	0	3	2	3	0	5	3	1	3	5	3	0	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:123748456A>T	ENST00000264498.3	+	1	594	c.526A>T	c.(526-528)Atc>Ttc	p.I176F		NM_002006.4	NP_001997.5	P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	176					activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	CTTCCTGCGCATCCACCCCGA	0.667													18	49					0	0	0	0	T	123748456	A	T	123748456	3	4	77	1	0	0	0	0	1	0	0	0	5893	217	8	5	528	5	FGF2	4	123748456	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	206445	123748456	67405820	106	14578											
FAT4	79633	broad.mit.edu	37	chr4	126238150	126238150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcaccctgaacccgagcgGcgagggagcgttcctgcatc	8	6	12	15	4	1	1	1	1	0	0	3	4	2	2	3	2	4	2	3	2	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:126238150G>T	ENST00000394329.3	+	1	597	c.584G>T	c.(583-585)gGc>gTc	p.G195V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	195	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AACCCGAGCGGCGAGGGAGCG	0.642											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	41					0.000673444	0.000702534	1	0	T	126238150	G	T	126238150	3	4	77	1	0	0	0	0	1	0	0	0	5737	1203	42	4	586	4	FAT4	4	126238150	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2489694	126238150	64916126	107	14579											
PCDH18	54510	broad.mit.edu	37	chr4	138452014	138452014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaataattgttttcatatGtcttctgaagtttaaagtga	13	19	6	3	0	3	2	1	2	2	0	3	2	3	2	0	0	0	2	0	0	7	9			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:138452014G>A	ENST00000344876.4	-	1	1615	c.1229C>T	c.(1228-1230)aCa>aTa	p.T410I	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.T410I|PCDH18_ENST00000507846.1_Missense_Mutation_p.T190I|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	410	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTTTTCATATGTCTTCTGAAG	0.393													31	150					0	0	0	0	A	138452014	G	A	138452014	3	1	77	1	0	0	0	0	1	0	0	0	11584	1377	48	4	2194	4	PCDH18	4	138452014	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	12213864	138452014	52702262	108	14580											
ELF2	1998	broad.mit.edu	37	chr4	139981705	139981705	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcagtagttcctgctaaAtcttcattacaggtttcact	10	16	5	10	0	5	0	4	0	1	0	6	0	6	0	1	1	2	4	1	1	4	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:139981705A>G	ENST00000394235.2	-	9	1396	c.894T>C	c.(892-894)gaT>gaC	p.D298D	ELF2_ENST00000379550.1_Silent_p.D310D|ELF2_ENST00000510408.1_Silent_p.D238D|ELF2_ENST00000265495.4_Silent_p.D298D|ELF2_ENST00000379549.2_Silent_p.D221D|ELF2_ENST00000358635.3_Silent_p.D250D|ELF2_ENST00000515489.1_5'UTR	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	310					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TTCCTGCTAAATCTTCATTAC	0.393													48	211					0	0	0	0	G	139981705	A	G	139981705	2	3	77	1	0	0	0	0	0	0	0	1	5092	98	4	5		5	ELF2	4	139981705	Silent	SNP	A	TCGA-CN-5356-01A-01D-1434-08	1529691	139981705	51172571	109	14581											
ZNF330	27309	broad.mit.edu	37	chr4	142155086	142155086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatttgtttactaatttGaatttaggaaggacctatgc	12	16	8	5	0	1	2	1	1	0	1	1	4	1	4	1	2	2	1	1	2	6	8			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:142155086G>T	ENST00000262990.4	+	10	1134	c.906G>T	c.(904-906)ttG>ttT	p.L302F	ZNF330_ENST00000421169.2_Missense_Mutation_p.L242F	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	302						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					TTACTAATTTGAATTTAGGAA	0.458													20	107					4.26978e-12	4.9694e-12	1	0	T	142155086	G	T	142155086	3	4	77	1	0	0	0	0	1	0	0	0	17943	1281	45	2	940	2	ZNF330	4	142155086	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2173381	142155086	48999190	110	14582											
NR3C2	4306	broad.mit.edu	37	chr4	149357710	149357710	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tataaacccatggactcagcTacagttgctgaaagttcctt	12	12	7	10	0	1	1	1	1	0	0	2	2	2	2	2	1	4	4	2	1	5	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:149357710T>C	ENST00000355292.3	-	2	665	c.303A>G	c.(301-303)gtA>gtG	p.V101V	NR3C2_ENST00000512865.1_Silent_p.V101V|NR3C2_ENST00000358102.3_Silent_p.V101V|NR3C2_ENST00000344721.4_Silent_p.V101V|NR3C2_ENST00000511528.1_Silent_p.V101V|NR3C2_ENST00000342437.4_Silent_p.V101V			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	101	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TGGACTCAGCTACAGTTGCTG	0.408													43	166					0	0	0	0	C	149357710	T	C	149357710	2	2	77	1	0	0	0	0	0	0	0	1	10702	1509	53	5		5	NR3C2	4	149357710	Silent	SNP	T	TCGA-CN-5356-01A-01D-1434-08	7202624	149357710	41796566	111	14583											
RNF175	285533	broad.mit.edu	37	chr4	154649396	154649396	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggttttcgggtagctcTgaagaggatgtaactggtaa	10	11	16	4	1	1	2	0	1	1	1	2	4	1	3	0	5	2	5	0	5	4	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:154649396T>C	ENST00000347063.4	-	4	736	c.364A>G	c.(364-366)Aga>Gga	p.R122G	RNF175_ENST00000274068.4_Intron|RNF175_ENST00000506505.1_Intron	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	122						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				CGGGTAGCTCTGAAGAGGATG	0.428													30	69					0	0	0	0	C	154649396	T	C	154649396	3	2	77	1	0	0	0	0	1	0	0	0	13548	1588	55	5	646	5	RNF175	4	154649396	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	5291686	154649396	36504880	112	14584											
DCHS2	54798	broad.mit.edu	37	chr4	155156538	155156538	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagtggccactggagtttGagtgtctgtacagattgaca	11	11	12	7	0	1	3	0	2	1	1	1	4	1	4	1	2	2	2	1	2	2	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:155156538G>C	ENST00000357232.3	-	25	7900	c.7901C>G	c.(7900-7902)tCa>tGa	p.S2634*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2634					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACTGGAGTTTGAGTGTCTGTA	0.463													45	94					0	0	0	0	C	155156538	G	C	155156538	4	2	77	1	0	0	0	0	0	1	0	0	4320	1294	45	2	853	2	DCHS2	4	155156538	Nonsense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	507142	155156538	35997738	113	14585											
DCHS2	54798	broad.mit.edu	37	chr4	155156946	155156946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgattattttcatttccaagGtgtcttctttgttgagttga	7	20	8	6	1	3	2	1	2	2	0	4	3	4	2	1	1	0	2	1	1	2	8			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:155156946G>A	ENST00000357232.3	-	25	7492	c.7493C>T	c.(7492-7494)aCc>aTc	p.T2498I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2498	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATTTCCAAGGTGTCTTCTTT	0.368													40	151					0	0	0	0	A	155156946	G	A	155156946	3	1	77	1	0	0	0	0	1	0	0	0	4320	1261	44	4	1261	4	DCHS2	4	155156946	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	408	155156946	35997330	114	14586											
LRAT	9227	broad.mit.edu	37	chr4	155665617	155665617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaccagctctttccacCgaggcgacgtgctggaggtg	9	8	13	11	3	1	1	0	1	1	0	2	4	2	2	3	3	3	2	3	3	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:155665617C>G	ENST00000336356.3	+	2	392	c.139C>G	c.(139-141)Cga>Gga	p.R47G	LRAT_ENST00000507827.1_Missense_Mutation_p.R47G	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	47					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CTCTTTCCACCGAGGCGACGT	0.577													22	151					0	0	0	0	G	155665617	C	G	155665617	3	3	77	1	0	0	0	0	1	0	0	0	8994	644	23	3	141	3	LRAT	4	155665617	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	508671	155665617	35488659	115	14587											
GLRB	2743	broad.mit.edu	37	chr4	158065104	158065104	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcgagtgctgccagagtGcccctgggtaaggtgttcca	7	8	15	11	2	0	1	0	0	0	1	1	3	1	1	4	2	3	3	4	2	1	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:158065104G>T	ENST00000264428.4	+	8	1167	c.897G>T	c.(895-897)gtG>gtT	p.V299V	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Silent_p.V299V|GLRB_ENST00000541722.1_Silent_p.V299V	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	299					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CTGCCAGAGTGCCCCTGGGTA	0.448													19	142					6.33239e-15	7.51485e-15	1	0	T	158065104	G	T	158065104	2	4	77	1	0	0	0	0	0	0	0	1	6509	1306	46	4		4	GLRB	4	158065104	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2399487	158065104	33089172	116	14588											
GRIA2	2891	broad.mit.edu	37	chr4	158284070	158284070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttacaagtcaagggccgaGgcgaaacgaatgaaggtggc	13	6	15	7	3	1	1	1	1	0	0	1	4	1	1	1	4	2	1	1	4	6	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:158284070G>T	ENST00000296526.7	+	15	2851	c.2526G>T	c.(2524-2526)gaG>gaT	p.E842D	GRIA2_ENST00000507898.1_Missense_Mutation_p.E795D|GRIA2_ENST00000393815.2_Missense_Mutation_p.E795D|GRIA2_ENST00000449365.1_Missense_Mutation_p.E795D|GRIA2_ENST00000264426.9_Missense_Mutation_p.E842D	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	842					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CAAGGGCCGAGGCGAAACGAA	0.453													47	84					2.13384e-23	2.71938e-23	1	0	T	158284070	G	T	158284070	3	4	77	1	0	0	0	0	1	0	0	0	6818	991	35	4	2703	4	GRIA2	4	158284070	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	218966	158284070	32870206	117	14589											
FAM198B	51313	broad.mit.edu	37	chr4	159076818	159076818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcatgatgatgtatttcaGtacaacccgattcaggcttg	11	13	8	9	1	3	2	3	2	0	0	3	3	3	2	1	1	2	3	1	1	3	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:159076818G>A	ENST00000296530.8	-	3	1691	c.1070C>T	c.(1069-1071)aCt>aTt	p.T357I	FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000585682.1_Missense_Mutation_p.T357I|FAM198B_ENST00000393807.5_Missense_Mutation_p.T365I	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	357						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						ATGTATTTCAGTACAACCCGA	0.428													4	73					0	0	0	0	A	159076818	G	A	159076818	3	1	77	1	0	0	0	0	1	0	0	0	5572	1029	36	4	501	4	FAM198B	4	159076818	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	792748	159076818	32077458	118	14590											
FAM198B	51313	broad.mit.edu	37	chr4	159076833	159076833	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcagtacaacccgattcaGgcttgggtactcggccattc	8	12	9	12	2	2	0	2	0	0	0	4	1	2	0	2	3	3	3	2	3	3	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:159076833G>C	ENST00000296530.8	-	3	1676	c.1055C>G	c.(1054-1056)cCt>cGt	p.P352R	FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000585682.1_Missense_Mutation_p.P352R|FAM198B_ENST00000393807.5_Missense_Mutation_p.P360R	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	352						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						ACCCGATTCAGGCTTGGGTAC	0.413													5	72					0	0	0	0	C	159076833	G	C	159076833	3	2	77	1	0	0	0	0	1	0	0	0	5572	1000	35	4	516	4	FAM198B	4	159076833	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	15	159076833	32077443	119	14591											
TMEM144	55314	broad.mit.edu	37	chr4	159136355	159136355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctaggaatgtttctccAgtgggttctttgtgctgcca	6	17	10	8	0	3	0	0	0	3	0	4	1	3	1	2	2	2	3	2	2	2	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:159136355A>G	ENST00000514558.1	+	3	1918	c.122A>G	c.(121-123)cAg>cGg	p.Q41R	TMEM144_ENST00000296529.6_Missense_Mutation_p.Q41R			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	41						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		ATGTTTCTCCAGTGGGTTCTT	0.388													32	222					0	0	0	0	G	159136355	A	G	159136355	3	3	77	1	0	0	0	0	1	0	0	0	16152	188	7	5	128	5	TMEM144	4	159136355	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	59522	159136355	32017921	120	14592											
GALNTL6	442117	broad.mit.edu	37	chr4	173852403	173852403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccatacaaagttccatctgGgacaagcctggcaagagtga	13	8	10	10	0	1	2	0	1	1	1	3	3	3	3	3	2	2	2	3	2	4	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:173852403G>T	ENST00000506823.1	+	9	1790	c.1133G>T	c.(1132-1134)gGg>gTg	p.G378V	GALNTL6_ENST00000508122.1_Missense_Mutation_p.G361V	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	378						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GTTCCATCTGGGACAAGCCTG	0.463													53	125					6.4308e-24	8.21714e-24	1	0	T	173852403	G	T	173852403	3	4	77	1	0	0	0	0	1	0	0	0	6274	1232	43	4	1163	4	GALNTL6	4	173852403	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	14716048	173852403	17301873	121	14593											
WDR17	116966	broad.mit.edu	37	chr4	177052768	177052768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgaagcagttccaccccCaactttaacacagaatcaag	16	6	6	13	1	1	1	1	0	0	1	2	2	2	1	3	0	4	2	3	0	6	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:177052768C>T	ENST00000393643.2	+	7	1229	c.977C>T	c.(976-978)cCa>cTa	p.P326L	WDR17_ENST00000280190.4_Missense_Mutation_p.P350L|WDR17_ENST00000507824.2_Missense_Mutation_p.P333L|WDR17_ENST00000508596.1_Missense_Mutation_p.P326L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	350										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTTCCACCCCCAACTTTAACA	0.383													82	230					0	0	0	0	T	177052768	C	T	177052768	3	4	77	1	0	0	0	0	1	0	0	0	17373	594	21	4	1075	4	WDR17	4	177052768	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	3200365	177052768	14101508	122	14594											
WDR17	116966	broad.mit.edu	37	chr4	177098636	177098636	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatagatcattagaagactCtccgtatacacccccttctg	12	12	5	12	1	3	3	1	0	2	3	4	3	3	3	3	0	1	1	3	0	6	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:177098636C>A	ENST00000393643.2	+	29	3860	c.3608C>A	c.(3607-3609)tCt>tAt	p.S1203Y	WDR17_ENST00000280190.4_Missense_Mutation_p.S1227Y|WDR17_ENST00000507824.2_Missense_Mutation_p.S1202Y|WDR17_ENST00000508596.1_Missense_Mutation_p.S1188Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1227										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTAGAAGACTCTCCGTATACA	0.299													32	157					3.99451e-17	4.82337e-17	1	0	A	177098636	C	A	177098636	3	1	77	1	0	0	0	0	1	0	0	0	17373	913	32	2	3794	2	WDR17	4	177098636	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	45868	177098636	14055640	123	14595											
LRP2BP	55805	broad.mit.edu	37	chr4	186294193	186294193	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgcaccctgggactccAgattcccattgccacatgct	9	9	8	15	0	0	1	0	0	0	1	2	2	2	2	4	1	3	2	4	1	1	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:186294193A>G	ENST00000362004.3	-	6	1437	c.626T>C	c.(625-627)cTg>cCg	p.L209P	LRP2BP_ENST00000328559.7_Missense_Mutation_p.L207P|LRP2BP_ENST00000510776.1_Missense_Mutation_p.L181P|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Missense_Mutation_p.L207P			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	207						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		CTGGGACTCCAGATTCCCATT	0.473													23	85					0	0	0	0	G	186294193	A	G	186294193	3	3	77	1	0	0	0	0	1	0	0	0	9021	188	7	5	435	5	LRP2BP	4	186294193	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	9195557	186294193	4860083	124	14596											
TRIML1	339976	broad.mit.edu	37	chr4	189068081	189068081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcagctacccgacaaccCggaaagatttgaccagtctg	13	6	9	13	2	1	2	0	1	1	1	1	4	1	3	3	1	4	2	3	1	3	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:189068081C>A	ENST00000332517.3	+	6	1102	c.962C>A	c.(961-963)cCg>cAg	p.P321Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	321	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.P321Q(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCCGACAACCCGGAAAGATTT	0.537													56	123					4.25531e-23	5.40873e-23	1	0	A	189068081	C	A	189068081	3	1	77	1	0	0	0	0	1	0	0	0	16645	652	23	3	984	3	TRIML1	4	189068081	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2773888	189068081	2086195	125	14597											
SLC9A3	6550	broad.mit.edu	37	chr5	524328	524328	+	Frame_Shift_Del	DEL	C	C	-																															cctggaagcccccgctctcgCcgtgcgcgccgccgggctcc																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:524328delC	ENST00000264938.3	-	1	119	c.110delG	c.(109-111)gcfs	p.G37fs	SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.G37fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	37						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCCGCTCTCGCCGTGCGCGCC	0.761													4	8	---	---	---	---					-	524328	C	-	524328	7	5	77	1	0	1	0	1	0	0	0	0	14801	739	26	0	2462	0	SLC9A3	5	524328	Frame_Shift_Del	DEL	C	TCGA-CN-5356-01A-01D-1434-08		524328	180390932	126	14598											
BRD9	65980	broad.mit.edu	37	chr5	884145	884145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgctcctctgcggtactgtCcgtcaagctgcaggcattcc	5	11	11	14	2	2	0	1	0	1	0	5	0	5	0	3	2	5	5	3	2	2	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:884145C>T	ENST00000323510.4	-	5	585	c.586G>A	c.(586-588)Gac>Aac	p.D196N	BRD9_ENST00000467963.1_Missense_Mutation_p.D292N|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000388890.4_Missense_Mutation_p.D176N|BRD9_ENST00000483173.1_Missense_Mutation_p.D239N|BRD9_ENST00000435709.2_Missense_Mutation_p.D176N			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	292	Bromo.						nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCGGTACTGTCCGTCAAGCTG	0.632													23	75					0	0	0	0	T	884145	C	T	884145	3	4	77	1	0	0	0	0	1	0	0	0	1515	855	30	2	955	2	BRD9	5	884145	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	359817	884145	180031115	127	14599											
FAM105B	90268	broad.mit.edu	37	chr5	14678802	14678802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaacagaaccgagattaaGcgtagctcctgaaatggata	15	10	9	7	2	0	3	0	1	0	2	1	5	1	4	2	1	4	2	2	1	6	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:14678802G>T	ENST00000284274.4	+	3	320	c.242G>T	c.(241-243)aGc>aTc	p.S81I		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	81										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					CCGAGATTAAGCGTAGCTCCT	0.358													9	36					2.17888e-05	2.32831e-05	1	0	T	14678802	G	T	14678802	3	4	77	1	0	0	0	0	1	0	0	0	5429	971	34	4	252	4	FAM105B	5	14678802	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	13794657	14678802	166236458	128	14600											
PRDM9	56979	broad.mit.edu	37	chr5	23527819	23527819	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctttagcgataggtcaagCctctgctatcaccagaggac	10	9	11	11	1	3	1	2	0	1	1	3	3	3	2	2	3	3	2	2	3	4	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:23527819C>T	ENST00000296682.3	+	11	2804	c.2622C>T	c.(2620-2622)agC>agT	p.S874S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	874					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATAGGTCAAGCCTCTGCTATC	0.522										HNSCC(3;0.000094)			33	110					0	0	0	0	T	23527819	C	T	23527819	2	4	77	1	0	0	0	0	0	0	0	1	12543	738	26	4		4	PRDM9	5	23527819	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	8849017	23527819	157387441	129	14601											
CDH9	1007	broad.mit.edu	37	chr5	26890582	26890582	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttatgccaaggagatgattCccggtcaagggctttcaaag	11	10	12	8	1	2	2	2	1	0	1	3	3	3	2	2	3	1	2	2	3	4	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:26890582C>A	ENST00000231021.4	-	8	1517	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	449	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGAGATGATTCCCGGTCAAGG	0.408													58	157					4.6707e-30	6.04812e-30	1	0	A	26890582	C	A	26890582	4	1	77	1	0	0	0	0	0	1	0	0	3146	864	30	2	1044	2	CDH9	5	26890582	Nonsense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	3362763	26890582	154024678	130	14602											
RAI14	26064	broad.mit.edu	37	chr5	34823760	34823760	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaaataccaagaagccCaagaagaaatcatgaaatta	21	7	7	6	0	1	5	1	2	0	4	1	6	1	5	2	0	2	0	2	0	9	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:34823760C>A	ENST00000265109.3	+	15	2100	c.1813C>A	c.(1813-1815)Caa>Aaa	p.Q605K	RAI14_ENST00000503673.1_Missense_Mutation_p.Q605K|RAI14_ENST00000397449.1_Missense_Mutation_p.Q598K|RAI14_ENST00000506376.1_Missense_Mutation_p.Q597K|RAI14_ENST00000515799.1_Missense_Mutation_p.Q608K|RAI14_ENST00000428746.2_Missense_Mutation_p.Q605K|RAI14_ENST00000512629.1_Missense_Mutation_p.Q576K	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	605						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CCAAGAAGCCCAAGAAGAAAT	0.363													17	76					1.02788e-11	1.19057e-11	1	0	A	34823760	C	A	34823760	3	1	77	1	0	0	0	0	1	0	0	0	13090	595	21	4	1932	4	RAI14	5	34823760	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	7933178	34823760	146091500	131	14603											
DNAJC21	134218	broad.mit.edu	37	chr5	34954712	34954712	+	Frame_Shift_Del	DEL	C	C	-																															aatttccatctcggaataaaCtttttgaccatctaaaggcc																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:34954712delC	ENST00000382021.2	+	13	1851	c.1624delC	c.(1624-1626)ttfs	p.L542fs	DNAJC21_ENST00000342382.4_Frame_Shift_Del_p.L497fs|DNAJC21_ENST00000303525.7_Frame_Shift_Del_p.L510fs	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	497					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TCGGAATAAACTTTTTGACCA	0.383													10	235	---	---	---	---					-	34954712	C	-	34954712	7	5	77	1	0	1	0	1	0	0	0	0	4676	565	20	0	1674	0	DNAJC21	5	34954712	Frame_Shift_Del	DEL	C	TCGA-CN-5356-01A-01D-1434-08	130952	34954712	145960548	132	14604											
CCNB1	891	broad.mit.edu	37	chr5	68473452	68473452	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagccaaggctgtggcaaaGgtgtaacttgtaaacttgag	12	11	12	6	0	0	1	0	1	0	0	0	1	0	1	1	3	3	4	1	3	6	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:68473452G>A	ENST00000256442.5	+	9	1549	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	432					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTGTGGCAAAGGTGTAACTTG	0.383													22	140					0	0	0	0	A	68473452	G	A	68473452	2	1	77	1	0	0	0	0	0	0	0	1	2940	991	35	4		4	CCNB1	5	68473452	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	33518740	68473452	112441808	133	14605											
PDE8B	8622	broad.mit.edu	37	chr5	76607880	76607880	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacgcaggaccctattcaggTacgcctcctttactcagccc	8	9	8	16	2	2	0	2	0	0	0	3	2	3	1	4	2	3	2	4	2	3	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:76607880T>A	ENST00000264917.5	+	2	444		c.e2+2		PDE8B_ENST00000342343.4_Intron|PDE8B_ENST00000333194.4_Splice_Site|PDE8B_ENST00000340978.3_Splice_Site|PDE8B_ENST00000346042.3_Splice_Site	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B						cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCTATTCAGGTACGCCTCCTT	0.463													28	192					0	0	0	0	A	76607880	T	A	76607880	5	1	77	1	0	0	0	0	0	0	1	0	11725	1652	57	5	407	5	PDE8B	5	76607880	Splice_Site	SNP	T	TCGA-CN-5356-01A-01D-1434-08	8134428	76607880	104307380	134	14606											
CMYA5	202333	broad.mit.edu	37	chr5	79029872	79029872	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagccatccagccgactttAaaaagggaggaaatcaagaa	17	7	9	8	1	1	1	1	0	0	1	2	4	2	3	3	2	2	0	3	2	7	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:79029872A>T	ENST00000446378.2	+	2	5315	c.5284A>T	c.(5284-5286)Aaa>Taa	p.K1762*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1762						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCCGACTTTAAAAAGGGAGG	0.413													16	95					0	0	0	0	T	79029872	A	T	79029872	4	4	77	1	0	0	0	0	0	1	0	0	3620	363	13	5	5290	5	CMYA5	5	79029872	Nonsense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	2421992	79029872	101885388	135	14607											
RASGRF2	5924	broad.mit.edu	37	chr5	80363998	80363998	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgaaaggcttaaatcagaGgtatttcccagtcaatagat	15	11	8	7	1	2	2	2	0	0	2	4	3	3	2	1	2	0	2	1	2	6	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:80363998G>A	ENST00000265080.4	+	3	610	c.543_splice	c.e3+1	p.E181_splice		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	181					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTAAATCAGAGGTATTTCCCA	0.393													11	103					0	0	0	0	A	80363998	G	A	80363998	5	1	77	1	0	0	0	0	0	0	1	0	13155	1014	35	4	553	4	RASGRF2	5	80363998	Splice_Site	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1334126	80363998	100551262	136	14608											
PCSK1	5122	broad.mit.edu	37	chr5	95764933	95764933	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacacgatcatcatcagatAatctcttagtgatatgaaag	15	13	6	7	1	4	3	3	2	1	1	5	4	4	3	0	0	1	0	0	0	5	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:95764933A>G	ENST00000311106.3	-	2	506	c.269T>C	c.(268-270)tTa>tCa	p.L90S	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.L43S	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	90					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCATCAGATAATCTCTTAGT	0.333													20	144					0	0	0	0	G	95764933	A	G	95764933	3	3	77	1	0	0	0	0	1	0	0	0	11671	372	13	5	2044	5	PCSK1	5	95764933	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	15400935	95764933	85150327	137	14609											
SLCO6A1	133482	broad.mit.edu	37	chr5	101794169	101794169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaaatgaagctgtttacGtttcctagcttttatccgtg	12	15	7	7	2	0	1	0	1	0	0	2	1	2	1	2	0	3	4	2	0	7	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:101794169G>A	ENST00000506729.1	-	6	1219	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R288C|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R350C			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	350						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGCTGTTTACGTTTCCTAGCT	0.294													24	133					0	0	0	0	A	101794169	G	A	101794169	3	1	77	1	0	0	0	0	1	0	0	0	14820	1145	40	1	1143	1	SLCO6A1	5	101794169	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	6029236	101794169	79121091	138	14610											
RAPGEF6	51735	broad.mit.edu	37	chr5	130815438	130815438	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtcctaaaaagtaactCtttgaacactgtggaaataa	16	12	6	7	0	2	1	1	1	1	0	3	2	3	2	1	1	2	1	1	1	7	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:130815438C>A	ENST00000509018.1	-	16	2054	c.1849G>T	c.(1849-1851)Gag>Tag	p.E617*	RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.E617*|FNIP1_ENST00000514667.1_Nonsense_Mutation_p.E667*|RAPGEF6_ENST00000308008.6_Nonsense_Mutation_p.E617*|RAPGEF6_ENST00000512052.1_Nonsense_Mutation_p.E332*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.E617*|RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.E617*|RAPGEF6_ENST00000510071.1_Nonsense_Mutation_p.E617*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	617					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAAGTAACTCTTTGAACACT	0.328													20	112					1.01871e-10	1.16597e-10	1	0	A	130815438	C	A	130815438	4	1	77	1	0	0	0	0	0	1	0	0	13130	922	32	2	3494	2	RAPGEF6	5	130815438	Nonsense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	29021269	130815438	50099822	139	14611											
KIF3A	11127	broad.mit.edu	37	chr5	132069961	132069961	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttataaacatcaagttgTttactctctggtccaaaaac	15	13	5	8	0	2	0	1	0	1	0	4	0	3	0	1	1	3	3	1	1	8	5	rs146249719	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:132069961T>A	ENST00000378746.4	-	2	434	c.216A>T	c.(214-216)aaA>aaT	p.K72N	KIF3A_ENST00000378735.1_Missense_Mutation_p.K72N|KIF3A_ENST00000403231.1_Missense_Mutation_p.K72N	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	72	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCAAGTTGTTTACTCTCTG	0.338													75	142					0	0	0	0	A	132069961	T	A	132069961	3	1	77	1	0	0	0	0	1	0	0	0	8351	1722	60	5	1947	5	KIF3A	5	132069961	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	1254523	132069961	48845299	140	14612											
BRD8	10902	broad.mit.edu	37	chr5	137496708	137496708	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaattcagctgtgcttcGgatcagtccattttctatgt	8	16	8	9	1	3	1	2	1	1	0	5	2	4	2	1	1	2	2	1	1	2	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:137496708G>A	ENST00000254900.5	-	18	2670	c.2299C>T	c.(2299-2301)Cga>Tga	p.R767*	BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000455658.2_Nonsense_Mutation_p.R726*|BRD8_ENST00000411594.2_Nonsense_Mutation_p.R770*|BRD8_ENST00000402931.1_Nonsense_Mutation_p.R767*|BRD8_ENST00000230901.5_Nonsense_Mutation_p.R840*	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	767	Bromo 1.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTGTGCTTCGGATCAGTCCA	0.408													15	106					0	0	0	0	A	137496708	G	A	137496708	4	1	77	1	0	0	0	0	0	1	0	0	1514	1124	39	1	1512	1	BRD8	5	137496708	Nonsense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	5426747	137496708	43418552	141	14613											
PCDHA3	56145	broad.mit.edu	37	chr5	140182431	140182431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgggcagcaacgtgaCgctgcaggtgttcgtgctgg	5	9	16	11	3	1	1	0	1	1	0	2	1	1	1	1	3	4	6	1	3	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:140182431C>T	ENST00000522353.2	+	1	1649	c.1649C>T	c.(1648-1650)aCg>aTg	p.T550M	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.T550M|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAACGTGACGCTGCAGGTG	0.687													26	108					0	0	0	0	T	140182431	C	T	140182431	3	4	77	1	0	0	0	0	1	0	0	0	11596	536	19	1	1651	1	PCDHA3	5	140182431	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2685723	140182431	40732829	142	14614											
PCDHA11	56138	broad.mit.edu	37	chr5	140250500	140250500	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggactcaggctacaacgcGtggctttcatatgaattgca	10	10	11	10	3	2	1	2	1	0	0	2	2	2	2	0	3	3	3	0	3	4	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:140250500G>T	ENST00000398640.2	+	1	1812	c.1812G>T	c.(1810-1812)gcG>gcT	p.A604A	PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACAACGCGTGGCTTTCAT	0.672													13	67					2.62699e-14	3.09472e-14	1	0	T	140250500	G	T	140250500	2	4	77	1	0	0	0	0	0	0	0	1	11592	1132	40	3		3	PCDHA11	5	140250500	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	68069	140250500	40664760	143	14615											
PCDHB5	26167	broad.mit.edu	37	chr5	140516465	140516465	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagactcaggcaccaacgcCcaggtcacctactcgctgct	10	6	9	16	2	2	1	2	0	0	1	3	2	2	1	3	2	3	3	3	2	2	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:140516465C>T	ENST00000231134.5	+	1	1666	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		483	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCAACGCCCAGGTCACCT	0.637													49	119					0	0	0	0	T	140516465	C	T	140516465	2	4	77	1	0	0	0	0	0	0	0	1	11616	610	22	4		4	PCDHB5	5	140516465	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	265965	140516465	40398795	144	14616											
PCDHGA2	56113	broad.mit.edu	37	chr5	140718644	140718644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagattcgctattctgtgCgggaagagatcgacagaggc	10	8	15	8	3	1	3	0	0	1	3	3	6	1	4	0	3	1	2	0	3	2	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:140718644C>T	ENST00000394576.2	+	1	106	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATTCTGTGCGGGAAGAGAT	0.602											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	95					0	0	0	0	T	140718644	C	T	140718644	3	4	77	1	0	0	0	0	1	0	0	0	11625	759	27	1	108	1	PCDHGA2	5	140718644	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	202179	140718644	40196616	145	14617											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811076	140811076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcccgagtaccgcgcgagCgttccggagaatctggcctt	7	7	13	14	6	1	1	0	0	1	1	2	4	2	1	4	2	3	2	4	2	2	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:140811076C>A	ENST00000252085.3	+	1	892	c.750C>A	c.(748-750)agC>agA	p.S250R	PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGCGAGCGTTCCGGAGA	0.627													31	68					2.70662e-09	3.04023e-09	1	0	A	140811076	C	A	140811076	3	1	77	1	0	0	0	0	1	0	0	0	11624	767	27	3	752	3	PCDHGA12	5	140811076	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	92432	140811076	40104184	146	14618											
FGF1	2246	broad.mit.edu	37	chr5	141974899	141974899	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaacaagattgctttctGgccatagtgagtccgaggac	12	9	12	8	1	1	3	0	1	1	2	2	6	2	4	2	2	2	1	2	2	3	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:141974899G>A	ENST00000359370.6	-	4	503	c.424C>T	c.(424-426)Cag>Tag	p.Q142*	AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000419524.2_Nonsense_Mutation_p.Q142*|FGF1_ENST00000378046.1_Nonsense_Mutation_p.Q142*|FGF1_ENST00000407758.1_3'UTR|FGF1_ENST00000337706.2_Nonsense_Mutation_p.Q142*|FGF1_ENST00000360966.5_3'UTR|FGF1_ENST00000494579.1_5'UTR|AC005592.2_ENST00000443800.1_RNA	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	142	Heparin-binding.				angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	ATTGCTTTCTGGCCATAGTGA	0.483													9	64					0	0	0	0	A	141974899	G	A	141974899	4	1	77	1	0	0	0	0	0	1	0	0	5883	1357	47	4	47	4	FGF1	5	141974899	Nonsense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1163823	141974899	38940361	147	14619											
FAT2	2196	broad.mit.edu	37	chr5	150925209	150925209	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctctcataatccatctCtgatacaatggttagggttc	10	14	7	10	0	2	1	1	1	2	0	6	1	3	1	1	2	2	3	1	2	4	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:150925209C>A	ENST00000261800.5	-	9	5491	c.5479G>T	c.(5479-5481)Gag>Tag	p.E1827*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1827	Cadherin 16.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAATCCATCTCTGATACAATG	0.433													39	66					1.90571e-15	2.28969e-15	1	0	A	150925209	C	A	150925209	4	1	77	1	0	0	0	0	0	1	0	0	5735	922	32	2	7630	2	FAT2	5	150925209	Nonsense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	8950310	150925209	29990051	148	14620											
FAT2	2196	broad.mit.edu	37	chr5	150934053	150934053	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccattaagaccctcaTccaggtctgaagccaccagc	10	8	7	16	0	3	2	1	1	2	1	4	2	4	2	5	1	3	0	5	1	2	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:150934053T>C	ENST00000261800.5	-	4	3827	c.3815A>G	c.(3814-3816)gAt>gGt	p.D1272G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1272	Cadherin 11.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGACCCTCATCCAGGTCTGA	0.557													39	187					0	0	0	0	C	150934053	T	C	150934053	3	2	77	1	0	0	0	0	1	0	0	0	5735	1435	50	5	9314	5	FAT2	5	150934053	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	8844	150934053	29981207	149	14621											
NSD1	64324	broad.mit.edu	37	chr5	176666861	176666861	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggggaccttggcctttctAaaaaggtatgttatttttgt	9	16	11	5	0	1	0	0	0	1	0	1	1	1	1	2	4	0	2	2	4	5	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:176666861A>T	ENST00000439151.2	+	8	4342	c.4297A>T	c.(4297-4299)Aaa>Taa	p.K1433*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.K1164*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.K1164*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.K1330*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1433					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGGCCTTTCTAAAAAGGTATG	0.313			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			36	46					0	0	0	0	T	176666861	A	T	176666861	4	4	77	1	0	0	0	0	0	1	0	0	10740	363	13	5	4323	5	NSD1	5	176666861	Nonsense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	25732808	176666861	4248399	150	14622											
GRM6	2916	broad.mit.edu	37	chr5	178410115	178410115	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagacagatccgacatgtcGcacttgagcacccctctggc	10	7	10	14	2	1	3	0	1	1	2	3	5	2	3	3	1	1	2	3	1	0	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:178410115G>A	ENST00000231188.5	-	9	2410	c.2232C>T	c.(2230-2232)tgC>tgT	p.C744C	GRM6_ENST00000517717.1_Silent_p.C744C|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	744					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCGACATGTCGCACTTGAGCA	0.637													7	71					0	0	0	0	A	178410115	G	A	178410115	2	1	77	1	0	0	0	0	0	0	0	1	6851	1079	38	1		1	GRM6	5	178410115	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1743254	178410115	2505145	151	14623											
FLT4	2324	broad.mit.edu	37	chr5	180048550	180048550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccagcctcaccctgcaccGacaggtacttcttgtggcag	7	8	11	15	1	2	0	1	0	1	0	2	1	2	0	4	3	3	3	4	3	1	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:180048550G>A	ENST00000261937.6	-	13	2090	c.2012C>T	c.(2011-2013)tCg>tTg	p.S671L	FLT4_ENST00000393347.3_Missense_Mutation_p.S671L|FLT4_ENST00000502649.1_Missense_Mutation_p.S671L|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	671	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACCCTGCACCGACAGGTACTT	0.677													11	60					0	0	0	0	A	180048550	G	A	180048550	3	1	77	1	0	0	0	0	1	0	0	0	5989	1059	37	1	2159	1	FLT4	5	180048550	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1638435	180048550	866710	152	14624											
NQO2	4835	broad.mit.edu	37	chr6	2997064	2997071	+	RNA	DEL	CCTTCCTT	CCTTCCTT	-																															ggataaacaatgcctggtacCcttccttccttccttccttc																								rs56162535		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:2997064_2997071delCCTTCCTT	ENST00000456189.1	-	0	127				RP1-90J20.8_ENST00000429319.1_RNA																							TGCCTGGTACccttccttccttccttcc	0.394													4	9	---	---	---	---					-	2997071	CCTTCCTT	-	2997064	6	5	77	0	1	1	0	1	0	0	0	0	10683	638	22	0		0	NQO2	6	2997064	RNA	DEL	CCTTCCTT	TCGA-CN-5356-01A-01D-1434-08		2997064	168118003	153	14625											
DSP	1832	broad.mit.edu	37	chr6	7569464	7569464	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcctgaaggacaacaacGagcgcagcaagtggtacgtg	13	6	13	9	3	0	1	0	1	0	0	1	3	1	2	1	2	5	4	1	2	6	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:7569464G>T	ENST00000379802.3	+	12	1806	c.1465G>T	c.(1465-1467)Gag>Tag	p.E489*	DSP_ENST00000418664.2_Nonsense_Mutation_p.E489*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	489	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGACAACAACGAGCGCAGCAA	0.527													83	91					1.13027e-35	1.49158e-35	1	0	T	7569464	G	T	7569464	4	4	77	1	0	0	0	0	0	1	0	0	4817	1059	37	3	1511	3	DSP	6	7569464	Nonsense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	4572400	7569464	163545603	154	14626											
HIVEP1	3096	broad.mit.edu	37	chr6	12125336	12125336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgggccaaagatgaaaatGgagctgtttgtgcaacagac	14	7	13	7	1	0	3	0	1	0	2	0	4	0	4	1	2	4	3	1	2	4	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:12125336G>A	ENST00000379388.2	+	4	5640	c.5308G>A	c.(5308-5310)Gga>Aga	p.G1770R		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1770					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGATGAAAATGGAGCTGTTTG	0.423													129	130					0	0	0	0	A	12125336	G	A	12125336	3	1	77	1	0	0	0	0	1	0	0	0	7236	1349	47	4	5318	4	HIVEP1	6	12125336	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	4555872	12125336	158989731	155	14627											
PRL	5617	broad.mit.edu	37	chr6	22287700	22287700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtcgattttatgtgaatcCctgcgtaggcagtggagcag	8	13	13	7	2	0	1	0	1	0	0	2	3	1	2	1	2	2	3	1	2	3	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:22287700C>A	ENST00000306482.1	-	5	1133	c.615G>T	c.(613-615)agG>agT	p.R205S	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	205					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TATGTGAATCCCTGCGTAGGC	0.463													164	149					1.03592e-72	1.40154e-72	1	0	A	22287700	C	A	22287700	3	1	77	1	0	0	0	0	1	0	0	0	12608	622	22	4	72	4	PRL	6	22287700	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	10162364	22287700	148827367	156	14628											
FAM65B	9750	broad.mit.edu	37	chr6	24876029	24876029	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctaccaacatgatttccggGagtctggtcggtagtcctag	8	11	11	11	2	1	1	0	1	1	0	4	2	3	2	4	3	2	1	4	3	4	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:24876029G>T	ENST00000538035.1	-	2	139	c.78C>A	c.(76-78)ctC>ctA	p.L26L	FAM65B_ENST00000259698.4_5'UTR|FAM65B_ENST00000540914.1_5'UTR|FAM65B_ENST00000510784.2_Silent_p.L31L|FAM65B_ENST00000378023.4_5'UTR			Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	0					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGATTTCCGGGAGTCTGGTCG	0.478													24	22					2.39556e-15	2.864e-15	1	0	T	24876029	G	T	24876029	2	4	77	1	0	0	0	0	0	0	0	1	5646	1189	41	2		2	FAM65B	6	24876029	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2588329	24876029	146239038	157	14629											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027337	26027337	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctcataaatcaaaccGgaaattcgcttaaccccacc	13	9	4	15	2	3	0	2	0	1	0	5	1	3	1	5	1	2	1	5	1	5	3	rs141516292		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:26027337G>A	ENST00000377364.3	-	1	143	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	48					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						AAATCAAACCGGAAATTCGCT	0.567													25	137					0	0	0	0	A	26027337	G	A	26027337	2	1	77	1	0	0	0	0	0	0	0	1	7216	1103	39	1		1	HIST1H4B	6	26027337	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1151308	26027337	145087730	158	14630											
HIST1H4F	8361	broad.mit.edu	37	chr6	26240930	26240930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttgtctacgcgctcaagCgccagggacgcactctgtac	8	9	11	13	4	3	0	1	0	2	0	3	1	3	1	1	1	3	4	1	1	3	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:26240930C>T	ENST00000377745.2	+	1	370	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	93					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGCGCTCAAGCGCCAGGGACG	0.547													7	131					0	0	0	0	T	26240930	C	T	26240930	3	4	77	1	0	0	0	0	1	0	0	0	7220	768	27	1	279	1	HIST1H4F	6	26240930	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	213593	26240930	144874137	159	14631											
OR2W1	26692	broad.mit.edu	37	chr6	29012622	29012622	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagccaggagaaggcactCaactgagcccaaccacatgt	15	4	9	13	0	1	2	1	1	0	1	1	3	1	2	3	2	5	1	3	2	4	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:29012622C>G	ENST00000377175.1	-	1	395	c.331G>C	c.(331-333)Gag>Cag	p.E111Q		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGAAGGCACTCAACTGAGCCC	0.433													21	123					0	0	0	0	G	29012622	C	G	29012622	3	3	77	1	0	0	0	0	1	0	0	0	11103	835	29	2	635	2	OR2W1	6	29012622	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2771692	29012622	142102445	160	14632											
OR2J2	26707	broad.mit.edu	37	chr6	29141990	29141990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtttatcatgtgttgacaCccatgcaaatgagctgaccc	10	11	9	11	1	1	3	1	3	0	0	1	3	1	3	2	0	2	4	2	0	2	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:29141990C>A	ENST00000377167.2	+	1	680	c.578C>A	c.(577-579)aCc>aAc	p.T193N		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTGTTGACACCCATGCAAAT	0.473													41	339					1.49673e-21	1.88752e-21	1	0	A	29141990	C	A	29141990	3	1	77	1	0	0	0	0	1	0	0	0	11074	507	18	4	580	4	OR2J2	6	29141990	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	129368	29141990	141973077	161	14633											
MOG	4340	broad.mit.edu	37	chr6	29638476	29638476	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtttctttttgttttcAgggcaattccttgaagagct	7	20	8	6	0	2	2	1	1	1	1	3	2	3	2	1	1	1	4	1	1	2	8			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:29638476A>G	ENST00000376894.4	+	7	827		c.e7-1		MOG_ENST00000396701.2_Splice_Site|MOG_ENST00000396704.3_Splice_Site|MOG_ENST00000376891.4_Intron|MOG_ENST00000376888.2_Splice_Site|MOG_ENST00000376898.3_Splice_Site|MOG_ENST00000376902.3_Splice_Site|MOG_ENST00000431798.2_Splice_Site|MOG_ENST00000416766.2_Splice_Site|MOG_ENST00000533330.2_Splice_Site|MOG_ENST00000494692.1_Splice_Site|MOG_ENST00000490427.1_Splice_Site|MOG_ENST00000376917.3_Splice_Site|MOG_ENST00000483013.1_Splice_Site			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TTTTGTTTTCAGGGCAATTCC	0.438													24	30					0	0	0	0	G	29638476	A	G	29638476	5	3	77	1	0	0	0	0	0	0	1	0	9763	202	7	5	870	5	MOG	6	29638476	Splice_Site	SNP	A	TCGA-CN-5356-01A-01D-1434-08	496486	29638476	141476591	162	14634											
TRIM26	7726	broad.mit.edu	37	chr6	30166209	30166209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaacagcctcacttaccagCgcggccaggatatcagcttc	11	7	9	14	2	2	0	2	0	0	0	3	2	2	1	3	2	5	1	3	2	3	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:30166209C>T	ENST00000454678.2	-	5	967	c.531G>A	c.(529-531)gcG>gcA	p.A177A	TRIM26_ENST00000453195.1_Silent_p.A177A|TRIM26_ENST00000437089.1_Silent_p.A177A	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	177							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CACTTACCAGCGCGGCCAGGA	0.577													17	202					0	0	0	0	T	30166209	C	T	30166209	2	4	77	1	0	0	0	0	0	0	0	1	16595	755	27	1		1	TRIM26	6	30166209	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	527733	30166209	140948858	163	14635											
NOTCH4	4855	broad.mit.edu	37	chr6	32180994	32180994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggcaggagaaggtgccagGcctgttcacacaggtacccc	10	5	14	12	0	1	1	1	0	0	1	1	3	1	1	4	5	2	3	4	5	2	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:32180994G>A	ENST00000375023.3	-	15	2494	c.2356C>T	c.(2356-2358)Cct>Tct	p.P786S	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	786	EGF-like 20.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AAGGTGCCAGGCCTGTTCACA	0.627													72	79					0	0	0	0	A	32180994	G	A	32180994	3	1	77	1	0	0	0	0	1	0	0	0	10621	1203	42	4	3719	4	NOTCH4	6	32180994	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2014785	32180994	138934073	164	14636											
RPL10A	4736	broad.mit.edu	37	chr6	35438521	35438521	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgggcaagccccagcgcctAtattaaggcacatttgaata	13	9	9	10	1	0	1	0	1	0	0	0	1	0	1	3	2	2	2	3	2	6	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:35438521A>G	ENST00000322203.6	+	6	675	c.648A>G	c.(646-648)ctA>ctG	p.L216L	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	216					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						CCCAGCGCCTATATTAAGGCA	0.493													64	66					0	0	0	0	G	35438521	A	G	35438521	2	3	77	1	0	0	0	0	0	0	0	1	13640	436	16	5		5	RPL10A	6	35438521	Silent	SNP	A	TCGA-CN-5356-01A-01D-1434-08	3257527	35438521	135676546	165	14637											
DAAM2	23500	broad.mit.edu	37	chr6	39838206	39838206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccggcaacatgaaaatGccatcctggacaagtaagtt	14	8	9	10	1	0	1	0	1	0	0	2	2	2	2	3	2	3	4	3	2	5	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:39838206G>T	ENST00000538976.1	+	8	1146	c.964G>T	c.(964-966)Gcc>Tcc	p.A322S	DAAM2_ENST00000274867.4_Missense_Mutation_p.A322S|DAAM2_ENST00000398904.2_Missense_Mutation_p.A322S	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	322	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACATGAAAATGCCATCCTGGA	0.517													7	10					2.0095e-06	2.1762e-06	1	0	T	39838206	G	T	39838206	3	4	77	1	0	0	0	0	1	0	0	0	4249	1319	46	4	990	4	DAAM2	6	39838206	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	4399685	39838206	131276861	166	14638											
DAAM2	23500	broad.mit.edu	37	chr6	39855276	39855276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagaaagagctgggctcCactgaagacatctacctggc	11	8	11	11	0	1	4	0	1	1	3	2	4	2	4	2	2	3	3	2	2	3	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:39855276C>T	ENST00000538976.1	+	16	2150	c.1968C>T	c.(1966-1968)tcC>tcT	p.S656S	DAAM2_ENST00000274867.4_Silent_p.S656S|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000398904.2_Silent_p.S656S	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	656	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGCTGGGCTCCACTGAAGACA	0.542													10	50					0	0	0	0	T	39855276	C	T	39855276	2	4	77	1	0	0	0	0	0	0	0	1	4249	581	21	4		4	DAAM2	6	39855276	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	17070	39855276	131259791	167	14639											
SUPT3H	8464	broad.mit.edu	37	chr6	44922282	44922282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagatttccattgcgacaaCattgggttttatctccatac	11	15	6	9	1	1	1	0	0	1	1	3	2	2	1	2	1	3	1	2	1	4	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:44922282C>T	ENST00000371460.1	-	10	993	c.676G>A	c.(676-678)Gtt>Att	p.V226I	SUPT3H_ENST00000371461.2_Missense_Mutation_p.V226I|SUPT3H_ENST00000371458.1_5'UTR|SUPT3H_ENST00000371459.1_Missense_Mutation_p.V215I|SUPT3H_ENST00000306867.5_Missense_Mutation_p.V215I	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	297					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						ATTGCGACAACATTGGGTTTT	0.383													22	265					0	0	0	0	T	44922282	C	T	44922282	3	4	77	1	0	0	0	0	1	0	0	0	15487	478	17	4	326	4	SUPT3H	6	44922282	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	5067006	44922282	126192785	168	14640											
MEP1A	4224	broad.mit.edu	37	chr6	46761196	46761196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctttttgcccacatagcaGctgtaccggtaagtcgagtc	8	12	10	11	2	0	0	0	0	0	0	2	1	0	0	2	1	5	5	2	1	3	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:46761196G>T	ENST00000230588.4	+	1	70	c.61G>T	c.(61-63)Gct>Tct	p.A21S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	21					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CCACATAGCAGCTGTACCGGT	0.343													129	389					2.10208e-94	2.85198e-94	1	0	T	46761196	G	T	46761196	3	4	77	1	0	0	0	0	1	0	0	0	9544	971	34	4	63	4	MEP1A	6	46761196	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1838914	46761196	124353871	169	14641											
GPR111	222611	broad.mit.edu	37	chr6	47650333	47650333	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatccctggccttccacAttatcttctccctgctcaat	8	13	4	16	0	3	1	1	0	2	1	6	1	5	1	4	1	1	1	4	1	2	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:47650333A>T	ENST00000398742.2	+	5	1883	c.1834A>T	c.(1834-1836)Att>Ttt	p.I612F	GPR111_ENST00000296862.1_Missense_Mutation_p.I680F|GPR111_ENST00000507065.1_Missense_Mutation_p.I612F			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	680					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGCCTTCCACATTATCTTCTC	0.483													52	85					0	0	0	0	T	47650333	A	T	47650333	3	4	77	1	0	0	0	0	1	0	0	0	6677	217	8	5	1852	5	GPR111	6	47650333	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	889137	47650333	123464734	170	14642											
EYS	346007	broad.mit.edu	37	chr6	66204988	66204988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaaagatgtttcagaaaCattcatcaaatttatttctg	16	14	5	6	1	4	2	3	0	1	2	4	3	4	2	0	0	2	1	0	0	5	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:66204988C>T	ENST00000503581.1	-	4	853	c.316G>A	c.(316-318)Gtt>Att	p.V106I	EYS_ENST00000370616.2_Missense_Mutation_p.V106I|EYS_ENST00000370618.3_Missense_Mutation_p.V106I|EYS_ENST00000370621.3_Missense_Mutation_p.V106I|EYS_ENST00000342421.5_Missense_Mutation_p.V106I|EYS_ENST00000393380.2_Missense_Mutation_p.V106I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	106					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTTTCAGAAACATTCATCAAA	0.363													38	150					0	0	0	0	T	66204988	C	T	66204988	3	4	77	1	0	0	0	0	1	0	0	0	5370	478	17	4	9240	4	EYS	6	66204988	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	18554655	66204988	104910079	171	14643											
AIM1	202	broad.mit.edu	37	chr6	106969128	106969128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggattcacgaagcaacCtacacttgccagaaactaaa	16	8	6	11	1	2	1	1	0	1	1	2	3	2	2	2	1	5	1	2	1	6	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:106969128C>G	ENST00000369066.3	+	2	3308	c.2821C>G	c.(2821-2823)Cta>Gta	p.L941V		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	941							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACGAAGCAACCTACACTTGCC	0.363													45	61					0	0	0	0	G	106969128	C	G	106969128	3	3	77	1	0	0	0	0	1	0	0	0	430	680	24	4	2827	4	AIM1	6	106969128	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	40764140	106969128	64145939	172	14644											
KIAA1919	91749	broad.mit.edu	37	chr6	111588223	111588223	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgaagtctataatcaataCccatcaaatgcactggtgtt	13	12	7	9	0	3	1	2	1	1	0	3	1	3	1	1	1	2	3	1	1	6	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:111588223C>G	ENST00000368847.4	+	4	1811	c.1458C>G	c.(1456-1458)taC>taG	p.Y486*		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	486					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		ATAATCAATACCCATCAAATG	0.403													29	83					0	0	0	0	G	111588223	C	G	111588223	4	3	77	1	0	0	0	0	0	1	0	0	8313	518	18	4	1472	4	KIAA1919	6	111588223	Nonsense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	4619095	111588223	59526844	173	14645											
SYNE1	23345	broad.mit.edu	37	chr6	152702405	152702405	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccgtgtgcatgagctcacaCccactggcagttgtgttctg	6	12	11	12	1	2	1	1	1	1	0	3	1	3	1	2	1	2	5	2	1	0	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:152702405C>G	ENST00000367255.5	-	56	9346	c.8745G>C	c.(8743-8745)ggG>ggC	p.G2915G	SYNE1_ENST00000448038.1_Silent_p.G2922G|SYNE1_ENST00000341594.5_Silent_p.G2954G|SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000265368.4_Silent_p.G2915G|SYNE1_ENST00000423061.1_Silent_p.G2922G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2915					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAGCTCACACCCACTGGCAG	0.547										HNSCC(10;0.0054)			100	148					0	0	0	0	G	152702405	C	G	152702405	2	3	77	1	0	0	0	0	0	0	0	1	15536	494	18	4		4	SYNE1	6	152702405	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	41114182	152702405	18412662	174	14646											
CNKSR3	154043	broad.mit.edu	37	chr6	154727662	154727662	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcttcctcggatgtaGtccgcaccccggaccagatg	7	8	10	16	3	0	1	0	0	0	1	3	3	2	3	6	2	1	3	6	2	1	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:154727662G>C	ENST00000607772.1	-	13	2038	c.1494C>G	c.(1492-1494)gaC>gaG	p.D498E	CNKSR3_ENST00000479339.1_Missense_Mutation_p.D418E|CNKSR3_ENST00000433165.2_Missense_Mutation_p.D323E	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	498	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CTCGGATGTAGTCCGCACCCC	0.567													44	94					0	0	0	0	C	154727662	G	C	154727662	3	2	77	1	0	0	0	0	1	0	0	0	3638	1020	36	4	177	4	CNKSR3	6	154727662	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2025257	154727662	16387405	175	14647											
TCP10L2	401285	broad.mit.edu	37	chr6	167590618	167590618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaaccacttagctcctcCaaaggtgacccttcgtgctt	9	12	6	14	1	1	1	0	1	1	0	4	1	3	1	4	1	3	2	4	1	3	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:167590618C>T	ENST00000366832.2	+	4	625	c.494C>T	c.(493-495)cCa>cTa	p.P165L		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	165										endometrium(1)|kidney(2)|lung(3)	6						TTAGCTCCTCCAAAGGTGACC	0.522													24	58					0	0	0	0	T	167590618	C	T	167590618	3	4	77	1	0	0	0	0	1	0	0	0	15806	594	21	4	504	4	TCP10L2	6	167590618	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	12862956	167590618	3524449	176	14648											
TCP10	6953	broad.mit.edu	37	chr6	167791447	167791447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcacgaagggtcacctttGgaggagctaagtggttagat	12	9	14	6	1	1	1	1	0	0	1	1	4	1	3	1	4	2	3	1	4	4	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:167791447G>A	ENST00000366827.2	-	4	624	c.413C>T	c.(412-414)cCa>cTa	p.P138L	TCP10_ENST00000397829.4_Missense_Mutation_p.P138L			Q12799	TCP10_HUMAN	t-complex 10	165						cytosol		p.P138Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GGTCACCTTTGGAGGAGCTAA	0.522													42	237					0	0	0	0	A	167791447	G	A	167791447	3	1	77	1	0	0	0	0	1	0	0	0	15804	1348	47	4	587	4	TCP10	6	167791447	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	200829	167791447	3323620	177	14649											
SUN1	23353	broad.mit.edu	37	chr7	893209	893209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatggaaggcggcgctgccgGgccgtcagcttcggtcagag	6	6	18	11	5	2	1	2	0	0	1	3	3	2	2	2	5	2	2	2	5	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:893209G>T	ENST00000456758.2	+	16	1784	c.1784G>T	c.(1783-1785)gGg>gTg	p.G595V	SUN1_ENST00000425407.2_Missense_Mutation_p.G323V|SUN1_ENST00000452783.2_Missense_Mutation_p.G303V|SUN1_ENST00000389574.3_Missense_Mutation_p.G323V|SUN1_ENST00000413514.2_Missense_Mutation_p.G215V|SUN1_ENST00000405266.1_Missense_Mutation_p.G443V|SUN1_ENST00000401592.1_Missense_Mutation_p.G406V			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	433					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCGCTGCCGGGCCGTCAGCT	0.647													18	58					7.41877e-09	8.27544e-09	1	0	T	893209	G	T	893209	3	4	77	1	0	0	0	0	1	0	0	0	15481	1232	43	4	1438	4	SUN1	7	893209	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08		893209	158245454	178	14650											
ABCB5	340273	broad.mit.edu	37	chr7	20793095	20793095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaattttattgttggatgAggccacttcagccctcgata	11	13	8	9	1	1	1	1	1	0	0	2	3	1	2	2	2	1	1	2	2	4	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:20793095A>G	ENST00000404938.2	+	27	4194	c.3542A>G	c.(3541-3543)gAg>gGg	p.E1181G	ABCB5_ENST00000258738.6_Missense_Mutation_p.E736G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	736					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTGTTGGATGAGGCCACTTCA	0.398													23	100					0	0	0	0	G	20793095	A	G	20793095	3	3	77	1	0	0	0	0	1	0	0	0	44	304	11	5	3685	5	ABCB5	7	20793095	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	19899886	20793095	138345568	179	14651											
JAZF1	221895	broad.mit.edu	37	chr7	27872583	27872583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttagcgtgatactttaTgccattcacattctgtggag	9	16	8	8	1	3	1	1	1	2	0	3	2	3	2	1	1	3	0	1	1	3	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:27872583T>C	ENST00000283928.5	-	5	733	c.568A>G	c.(568-570)Ata>Gta	p.I190V	TAX1BP1_ENST00000488564.1_Intron|JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	190					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TGATACTTTATGCCATTCACA	0.438			T	SUZ12	endometrial stromal tumours								18	32					0	0	0	0	C	27872583	T	C	27872583	3	2	77	1	0	0	0	0	1	0	0	0	7999	1464	51	5	167	5	JAZF1	7	27872583	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	7079488	27872583	131266080	180	14652											
NEUROD6	63974	broad.mit.edu	37	chr7	31378427	31378427	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagatctggtctcttgccGattctcagaatttcagaaag	11	12	9	9	1	4	3	2	0	3	3	6	4	4	3	1	1	2	1	1	1	2	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:31378427G>A	ENST00000297142.3	-	2	778	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	152					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.I152I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GTCTCTTGCCGATTCTCAGAA	0.458													35	110					0	0	0	0	A	31378427	G	A	31378427	2	1	77	1	0	0	0	0	0	0	0	1	10421	1048	37	1		1	NEUROD6	7	31378427	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	3505844	31378427	127760236	181	14653											
BBS9	27241	broad.mit.edu	37	chr7	33388738	33388738	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attatcagtctacgtgcaacCaccattagaattgacttgtg	12	13	7	9	1	2	2	1	1	1	1	2	2	2	2	2	0	3	1	2	0	5	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:33388738C>G	ENST00000242067.6	+	13	1909	c.1388C>G	c.(1387-1389)cCa>cGa	p.P463R	BBS9_ENST00000396127.2_Missense_Mutation_p.P463R|BBS9_ENST00000355070.2_Missense_Mutation_p.P463R|BBS9_ENST00000354265.4_Missense_Mutation_p.P463R|BBS9_ENST00000350941.3_Missense_Mutation_p.P463R	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	463					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TACGTGCAACCACCATTAGAA	0.318									Bardet-Biedl syndrome				22	134					0	0	0	0	G	33388738	C	G	33388738	3	3	77	1	0	0	0	0	1	0	0	0	1346	594	21	4	1434	4	BBS9	7	33388738	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2010311	33388738	125749925	182	14654											
PCLO	27445	broad.mit.edu	37	chr7	82538228	82538228	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgagtggtctagagtggaCcaatctttccggcagttttc	8	13	11	9	1	2	2	0	1	2	1	4	3	3	3	2	3	0	2	2	3	2	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:82538228C>A	ENST00000423517.2	-	8	13739	c.13402G>T	c.(13402-13404)Gtc>Ttc	p.V4468F	PCLO_ENST00000333891.8_Missense_Mutation_p.V4468F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4399	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTAGAGTGGACCAATCTTTCC	0.413													35	120					4.3181e-19	5.33412e-19	1	0	A	82538228	C	A	82538228	3	1	77	1	0	0	0	0	1	0	0	0	11654	507	18	4	2115	4	PCLO	7	82538228	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	49149490	82538228	76600435	183	14655											
SEMA3A	10371	broad.mit.edu	37	chr7	83610727	83610727	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacactcagcacacgctttcCcgtaaatatcacaccggtgt	12	9	6	14	3	2	0	2	0	0	0	3	0	3	0	2	1	2	3	2	1	4	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:83610727C>G	ENST00000265362.3	-	14	1876	c.1562G>C	c.(1561-1563)gGg>gCg	p.G521A	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G521A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	521					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACACGCTTTCCCGTAAATATC	0.483													16	30					0	0	0	0	G	83610727	C	G	83610727	3	3	77	1	0	0	0	0	1	0	0	0	14111	623	22	4	769	4	SEMA3A	7	83610727	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	1072499	83610727	75527936	184	14656											
GRM3	2913	broad.mit.edu	37	chr7	86394654	86394654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaatcaatgaagaccgaGggattcaacgcctggaagcc	13	5	13	10	3	2	2	2	1	0	1	2	6	2	4	3	3	2	0	3	3	5	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:86394654G>A	ENST00000361669.2	+	2	1292	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.G65R|GRM3_ENST00000394720.2_Missense_Mutation_p.G63R|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	65					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGAAGACCGAGGGATTCAACG	0.418													40	142					0	0	0	0	A	86394654	G	A	86394654	3	1	77	1	0	0	0	0	1	0	0	0	6848	1000	35	4	195	4	GRM3	7	86394654	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2783927	86394654	72744009	185	14657											
DMTF1	9988	broad.mit.edu	37	chr7	86817562	86817562	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttggaagataatacagcCatctcttctagccccatggc	10	10	8	13	1	2	1	0	0	2	1	3	2	2	2	3	2	3	1	3	2	4	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:86817562C>T	ENST00000414194.2	+	13	2350	c.558C>T	c.(556-558)gcC>gcT	p.A186A	DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000331242.7_Silent_p.A452A|DMTF1_ENST00000432937.2_Silent_p.A364A|DMTF1_ENST00000394703.5_Silent_p.A452A			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	452	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ATAATACAGCCATCTCTTCTA	0.418													86	288					0	0	0	0	T	86817562	C	T	86817562	2	4	77	1	0	0	0	0	0	0	0	1	4629	581	21	4		4	DMTF1	7	86817562	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	422908	86817562	72321101	186	14658											
AKAP9	10142	broad.mit.edu	37	chr7	91631698	91631698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgtgggaaaaagaaataGaaatacttatagaggaaaat	20	9	10	2	0	0	3	0	0	0	3	0	5	0	5	0	2	1	0	0	2	10	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:91631698G>A	ENST00000359028.2	+	9	2728	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	AKAP9_ENST00000358100.2_Missense_Mutation_p.E835K|AKAP9_ENST00000356239.3_Missense_Mutation_p.E823K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	835	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAAGAAATAGAAATACTTAT	0.323			T	BRAF	papillary thyroid								46	137					0	0	0	0	A	91631698	G	A	91631698	3	1	77	1	0	0	0	0	1	0	0	0	459	943	33	2	2497	2	AKAP9	7	91631698	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	4814136	91631698	67506965	187	14659											
VGF	7425	broad.mit.edu	37	chr7	100806374	100806374	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcctcctgcgcgcgcCgcgcctgggcctcccggccg	0	5	13	23	8	0	0	0	0	0	0	3	0	3	0	9	2	1	0	9	2	0	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:100806374C>G	ENST00000249330.2	-	2	1990	c.1751G>C	c.(1750-1752)cGg>cCg	p.R584P	VGF_ENST00000445482.2_Missense_Mutation_p.R584P	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	584					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGCGCGCGCCGCGCCTGGGC	0.746													7	35					0	0	0	0	G	100806374	C	G	100806374	3	3	77	1	0	0	0	0	1	0	0	0	17253	652	23	3	100	3	VGF	7	100806374	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	9174676	100806374	58332289	188	14660											
FBXL13	222235	broad.mit.edu	37	chr7	102553619	102553619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcctttgtctgtgaaccGtctgcaataagccaaactaa	13	11	7	10	1	2	1	0	1	2	0	2	1	2	1	3	0	5	1	3	0	6	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:102553619G>A	ENST00000393772.2	-	11	1348	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	FBXL13_ENST00000436908.1_Missense_Mutation_p.R308W|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.R308W|FBXL13_ENST00000379306.3_Missense_Mutation_p.R308W|FBXL13_ENST00000456695.1_Missense_Mutation_p.R308W|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.R308W|FBXL13_ENST00000313221.4_Missense_Mutation_p.R308W|FBXL13_ENST00000379308.3_Missense_Mutation_p.R308W			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	308										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCTGTGAACCGTCTGCAATAA	0.438													19	102					0	0	0	0	A	102553619	G	A	102553619	3	1	77	1	0	0	0	0	1	0	0	0	5754	1144	40	1	1325	1	FBXL13	7	102553619	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1747245	102553619	56585044	189	14661											
RELN	5649	broad.mit.edu	37	chr7	103126772	103126772	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctatgactccaccttgaatGgtctcccagtttgcctcggt	6	13	8	14	1	1	2	0	2	1	0	4	2	2	2	5	2	1	1	5	2	2	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:103126772G>T	ENST00000428762.1	-	61	10014	c.9855C>A	c.(9853-9855)acC>acA	p.T3285T	RELN_ENST00000424685.2_Silent_p.T3285T|RELN_ENST00000343529.5_Silent_p.T3285T|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3285					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACCTTGAATGGTCTCCCAGT	0.502													42	136					1.23103e-26	1.58556e-26	1	0	T	103126772	G	T	103126772	2	4	77	1	0	0	0	0	0	0	0	1	13302	1335	47	4		4	RELN	7	103126772	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	573153	103126772	56011891	190	14662											
RELN	5649	broad.mit.edu	37	chr7	103180756	103180756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctccagggcaatgtacctgCccacattgctggaattgctg	8	11	10	12	0	1	0	0	0	1	0	2	1	1	1	3	2	4	4	3	2	3	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:103180756C>T	ENST00000428762.1	-	44	6977	c.6818G>A	c.(6817-6819)gGc>gAc	p.G2273D	RELN_ENST00000424685.2_Missense_Mutation_p.G2273D|RELN_ENST00000343529.5_Missense_Mutation_p.G2273D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2273					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATGTACCTGCCCACATTGCT	0.552													37	115					0	0	0	0	T	103180756	C	T	103180756	3	4	77	1	0	0	0	0	1	0	0	0	13302	739	26	4	3652	4	RELN	7	103180756	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	53984	103180756	55957907	191	14663											
EXOC4	60412	broad.mit.edu	37	chr7	133749194	133749194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggaactgaccacccagaaCacgaggctgcagaggctcaa	13	3	13	12	1	1	3	1	1	0	2	1	5	1	4	2	4	3	3	2	4	3	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:133749194C>A	ENST00000253861.4	+	18	2867	c.2838C>A	c.(2836-2838)aaC>aaA	p.N946K	EXOC4_ENST00000545148.1_Missense_Mutation_p.N556K|EXOC4_ENST00000541309.1_Missense_Mutation_p.N234K|EXOC4_ENST00000539845.1_Missense_Mutation_p.N845K	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	946					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CCACCCAGAACACGAGGCTGC	0.582													23	96					0.00047179	0.000493235	1	0	A	133749194	C	A	133749194	3	1	77	1	0	0	0	0	1	0	0	0	5343	477	17	4	2917	4	EXOC4	7	133749194	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	30568438	133749194	25389469	192	14664											
C7orf55	154791	broad.mit.edu	37	chr7	139030441	139030441	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcctggagggaagggctgGgagccatgaacatggagaat	12	5	17	7	0	0	2	0	1	0	1	0	6	0	5	2	5	3	1	2	5	3	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:139030441G>A	ENST00000297534.6	+	2	586	c.333G>A	c.(331-333)tgG>tgA	p.W111*	C7orf55_ENST00000481123.1_3'UTR|LUC7L2_ENST00000541515.3_Intron|C7orf55-LUC7L2_ENST00000541170.3_Intron	NM_197964.4	NP_932068.2			chromosome 7 open reading frame 55											breast(1)|lung(2)	3						GGAAGGGCTGGGAGCCATGAA	0.438													7	56					0	0	0	0	A	139030441	G	A	139030441	4	1	77	1	0	0	0	0	0	1	0	0	2426	1241	43	4	339	4	C7orf55	7	139030441	Nonsense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	5281247	139030441	20108222	193	14665											
MGAM	8972	broad.mit.edu	37	chr7	141754696	141754696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaattcgccggaagagtaCaggcactataatgtgagtgg	13	9	13	6	2	0	3	0	2	0	1	1	4	0	4	1	3	1	2	1	3	5	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:141754696C>A	ENST00000475668.2	+	27	3356	c.3302C>A	c.(3301-3303)aCa>aAa	p.T1101K	MGAM_ENST00000549489.2_Missense_Mutation_p.T1101K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1101	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGGAAGAGTACAGGCACTATA	0.488													29	96					2.42023e-17	2.93712e-17	1	0	A	141754696	C	A	141754696	3	1	77	1	0	0	0	0	1	0	0	0	9610	478	17	4	3404	4	MGAM	7	141754696	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2724255	141754696	17383967	194	14666											
TAS2R39	259285	broad.mit.edu	37	chr7	142880918	142880918	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggctcagtttcttctactTtgtgaagattgccaatttct	7	18	7	9	0	4	2	1	1	3	1	4	2	4	2	1	1	2	2	1	1	3	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:142880918T>A	ENST00000446620.1	+	1	407	c.407T>A	c.(406-408)tTt>tAt	p.F136Y		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	136					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TTCTTCTACTTTGTGAAGATT	0.388													63	195					0	0	0	0	A	142880918	T	A	142880918	3	1	77	1	0	0	0	0	1	0	0	0	15667	1841	64	5	409	5	TAS2R39	7	142880918	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	1126222	142880918	16257745	195	14667											
FAM115A	9747	broad.mit.edu	37	chr7	143573297	143573297	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaacttgaccagcttttcTgtcatggtttcattgtaggc	8	16	9	8	0	3	2	2	2	1	0	3	2	3	2	1	2	2	3	1	2	2	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:143573297T>C	ENST00000479870.1	-	2	613	c.405A>G	c.(403-405)acA>acG	p.T135T	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Silent_p.T135T	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	135										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					CCAGCTTTTCTGTCATGGTTT	0.507													62	128					0	0	0	0	C	143573297	T	C	143573297	2	2	77	1	0	0	0	0	0	0	0	1	5446	1567	55	5		5	FAM115A	7	143573297	Silent	SNP	T	TCGA-CN-5356-01A-01D-1434-08	692379	143573297	15565366	196	14668											
NOBOX	135935	broad.mit.edu	37	chr7	144096938	144096938	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttttcgccacttggcccGgcgattctggaaccacacct	7	11	8	15	3	1	0	0	0	1	0	2	2	1	1	4	3	1	0	4	3	1	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:144096938G>T	ENST00000467773.1	-	6	1065	c.1066C>A	c.(1066-1068)Cgg>Agg	p.R356R	NOBOX_ENST00000223140.5_Silent_p.R239R|NOBOX_ENST00000483238.1_Silent_p.R324R	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	356					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)					CACTTGGCCCGGCGATTCTGG	0.537													14	33					2.31682e-05	2.47025e-05	1	0	T	144096938	G	T	144096938	2	4	77	1	0	0	0	0	0	0	0	1	10582	1115	39	3		3	NOBOX	7	144096938	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	523641	144096938	15041725	197	14669											
DPP6	1804	broad.mit.edu	37	chr7	154681008	154681008	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtagcccatcgagtctcCgcgctggaagaacagcagtt	11	7	12	11	3	1	1	0	0	1	1	3	3	1	2	2	2	3	4	2	2	4	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:154681008C>T	ENST00000404039.1	+	24	2726	c.2139C>T	c.(2137-2139)tcC>tcT	p.S713S	DPP6_ENST00000377770.3_Silent_p.S777S|DPP6_ENST00000332007.3_Silent_p.S715S|DPP6_ENST00000427557.1_Silent_p.S670S	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	777					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATCGAGTCTCCGCGCTGGAAG	0.537													8	16					0	0	0	0	T	154681008	C	T	154681008	2	4	77	1	0	0	0	0	0	0	0	1	4766	639	23	1		1	DPP6	7	154681008	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	10584070	154681008	4457655	198	14670											
SGK223	157285	broad.mit.edu	37	chr8	8235565	8235565	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcgggagggggagcttGccaggggctcgtctccagat	5	9	17	10	2	1	1	0	0	1	1	4	3	1	3	2	5	3	3	2	5	0	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:8235565G>C	ENST00000520004.1	-	3	618	c.354C>G	c.(352-354)ggC>ggG	p.G118G	SGK223_ENST00000330777.4_Silent_p.G118G			Q86YV5	SG223_HUMAN		118							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGGGGAGCTTGCCAGGGGCTC	0.547													39	145					0	0	0	0	C	8235565	G	C	8235565	2	2	77	1	0	0	0	0	0	0	0	1	14297	1306	46	4		4	SGK223	8	8235565	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08		8235565	138128457	199	14671											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998511	8998511	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcccagtacgtctgtccAttgcactcgtagtacacagc	8	11	8	14	2	1	0	0	0	1	0	4	0	3	0	2	0	4	4	2	0	3	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:8998511A>T	ENST00000310455.3	-	2	801	c.651T>A	c.(649-651)aaT>aaA	p.N217K	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.N217K	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	217	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ACGTCTGTCCATTGCACTCGT	0.507													45	124					0	0	0	0	T	8998511	A	T	8998511	3	4	77	1	0	0	0	0	1	0	0	0	12448	214	8	5	210	5	PPP1R3B	8	8998511	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	762946	8998511	137365511	200	14672											
FDFT1	2222	broad.mit.edu	37	chr8	11666366	11666366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagaccagtcgcagtttcGcagctgttatccaggcgctg	8	10	11	12	3	1	1	1	0	0	1	4	1	2	1	2	1	1	6	2	1	1	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:11666366G>A	ENST00000220584.4	+	2	385	c.163G>A	c.(163-165)Gca>Aca	p.A55T	FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000528812.1_5'UTR|FDFT1_ENST00000530664.1_5'UTR|FDFT1_ENST00000525900.1_Missense_Mutation_p.A48T|FDFT1_ENST00000443614.2_Missense_Mutation_p.A55T|FDFT1_ENST00000538689.1_5'UTR	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	55					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TCGCAGTTTCGCAGCTGTTAT	0.572													16	20					0	0	0	0	A	11666366	G	A	11666366	3	1	77	1	0	0	0	0	1	0	0	0	5847	1087	38	1	169	1	FDFT1	8	11666366	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2667855	11666366	134697656	201	14673											
ADAM28	10863	broad.mit.edu	37	chr8	24193130	24193130	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgccccacactgcaggagCagtgcacagagctgtgggga	10	5	14	12	0	0	1	0	0	0	1	0	3	0	3	2	3	5	4	2	3	0	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:24193130C>A	ENST00000265769.4	+	14	1653	c.1543C>A	c.(1543-1545)Cag>Aag	p.Q515K	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.Q515K|ADAM28_ENST00000540823.1_Missense_Mutation_p.Q282K|ADAM28_ENST00000397649.3_Missense_Mutation_p.Q262K|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	515	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ACTGCAGGAGCAGTGCACAGA	0.507													9	31					0.307466	0.308744	1	0	A	24193130	C	A	24193130	3	1	77	1	0	0	0	0	1	0	0	0	246	711	25	4	1597	4	ADAM28	8	24193130	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	12526764	24193130	122170892	202	14674											
NEFM	4741	broad.mit.edu	37	chr8	24771549	24771549	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgacttcagccagtcctcGtccctgctcaacggcggctc	5	10	9	17	3	2	1	2	1	0	0	6	1	4	1	3	2	3	2	3	2	1	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:24771549G>T	ENST00000221166.5	+	1	1025	c.243G>T	c.(241-243)tcG>tcT	p.S81S	NEFM_ENST00000437366.2_Silent_p.S81S|NEFM_ENST00000518131.1_Silent_p.S81S|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	81	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCCAGTCCTCGTCCCTGCTCA	0.662													11	27					2.49675e-24	3.20726e-24	1	0	T	24771549	G	T	24771549	2	4	77	1	0	0	0	0	0	0	0	1	10386	1132	40	3		3	NEFM	8	24771549	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	578419	24771549	121592473	203	14675											
PURG	29942	broad.mit.edu	37	chr8	30889548	30889548	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcgtctccacctcttcGttcttctatgtctccttcgc	3	17	5	16	3	6	0	1	0	5	0	11	0	6	0	3	0	0	1	3	0	1	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:30889548G>A	ENST00000475541.1	-	1	1683	c.751C>T	c.(751-753)Cga>Tga	p.R251*	PURG_ENST00000339382.2_Nonsense_Mutation_p.R251*	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	251						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCACCTCTTCGTTCTTCTATG	0.458													43	112					0	0	0	0	A	30889548	G	A	30889548	4	1	77	1	0	0	0	0	0	1	0	0	12911	1153	40	1	405	1	PURG	8	30889548	Nonsense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	6117999	30889548	115474474	204	14676											
PXDNL	137902	broad.mit.edu	37	chr8	52336292	52336292	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtaatctgcacaccttcCtagggagcaaaaaagagttg	14	9	9	9	0	2	1	1	0	1	1	3	2	3	2	2	1	2	4	2	1	5	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:52336292C>G	ENST00000356297.4	-	14	1739		c.e14-1		PXDNL_ENST00000543296.1_Splice_Site	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like						hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCACACCTTCCTAGGGAGCAA	0.393													9	48					0	0	0	0	G	52336292	C	G	52336292	5	3	77	1	0	0	0	0	0	0	1	0	12930	695	24	4	2793	4	PXDNL	8	52336292	Splice_Site	SNP	C	TCGA-CN-5356-01A-01D-1434-08	21446744	52336292	94027730	205	14677											
YTHDF3	253943	broad.mit.edu	37	chr8	64098988	64098988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctacatgggggacaagtgGatctcagggacaatcaacac	13	7	11	10	0	3	0	2	0	2	0	4	3	3	3	0	4	2	0	0	4	4	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:64098988G>A	ENST00000539294.1	+	4	732	c.416G>A	c.(415-417)gGa>gAa	p.G139E	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_5'UTR|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	140				S -> R (in Ref. 2; CAH56224).								Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GGGACAAGTGGATCTCAGGGA	0.433													18	64					0	0	0	0	A	64098988	G	A	64098988	3	1	77	1	0	0	0	0	1	0	0	0	17596	1174	41	2	432	2	YTHDF3	8	64098988	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	11762696	64098988	82265034	206	14678											
ARFGEF1	10565	broad.mit.edu	37	chr8	68123821	68123821	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggttgaatagaatcatgAatatctacagacttctgtga	13	14	8	6	0	3	5	1	3	2	2	3	5	3	5	0	1	1	1	0	1	6	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:68123821A>G	ENST00000262215.3	-	34	5105	c.4716T>C	c.(4714-4716)atT>atC	p.I1572I	ARFGEF1_ENST00000520381.1_Silent_p.I1026I|ARFGEF1_ENST00000518230.1_Silent_p.I410I	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1572					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TAGAATCATGAATATCTACAG	0.323													35	65					0	0	0	0	G	68123821	A	G	68123821	2	3	77	1	0	0	0	0	0	0	0	1	854	242	9	5		5	ARFGEF1	8	68123821	Silent	SNP	A	TCGA-CN-5356-01A-01D-1434-08	4024833	68123821	78240201	207	14679											
NECAB1	64168	broad.mit.edu	37	chr8	91937823	91937823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggaaaacgatcaagccgCcgagtccagagacacaacag	15	3	10	13	3	1	1	1	0	0	1	2	5	2	2	4	1	3	0	4	1	4	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:91937823C>T	ENST00000417640.2	+	7	892	c.555C>T	c.(553-555)cgC>cgT	p.R185R		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	185					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GATCAAGCCGCCGAGTCCAGA	0.458													13	25					0	0	0	0	T	91937823	C	T	91937823	2	4	77	1	0	0	0	0	0	0	0	1	10374	726	26	4		4	NECAB1	8	91937823	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	23814002	91937823	54426199	208	14680											
RUNX1T1	862	broad.mit.edu	37	chr8	93023240	93023240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaataccttcaaaaatGggatgacaaaaggtctcagt	15	10	9	7	0	2	1	2	1	1	0	3	2	2	2	1	2	2	1	1	2	6	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:93023240G>A	ENST00000523629.1	-	5	1002	c.548C>T	c.(547-549)cCa>cTa	p.P183L	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P194L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P156L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P146L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P183L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P156L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P146L|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.P146L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P146L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	183	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P183R(1)|p.P146R(1)|p.P194R(1)		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)			CTTCAAAAATGGGATGACAAA	0.363													40	132					0	0	0	0	A	93023240	G	A	93023240	3	1	77	1	0	0	0	0	1	0	0	0	13832	1348	47	4	1298	4	RUNX1T1	8	93023240	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1085417	93023240	53340782	209	14681											
CSMD3	114788	broad.mit.edu	37	chr8	113395840	113395840	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgttgtctcccccatcaTaaaagtccagagaatcccaa	13	10	5	13	0	2	1	1	0	1	1	5	2	4	1	4	0	0	1	4	0	4	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:113395840T>C	ENST00000297405.5	-	37	6231	c.5987A>G	c.(5986-5988)tAt>tGt	p.Y1996C	CSMD3_ENST00000352409.3_Missense_Mutation_p.Y1926C|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y1956C|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y1892C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1996	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCCCCATCATAAAAGTCCAG	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			42	99					0	0	0	0	C	113395840	T	C	113395840	3	2	77	1	0	0	0	0	1	0	0	0	3978	1406	49	5	5276	5	CSMD3	8	113395840	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	20372600	113395840	32968182	210	14682											
HAS2	3037	broad.mit.edu	37	chr8	122626624	122626624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctgatgtgccccaccCagctttgtttattgttgcaa	6	15	7	13	0	0	1	0	1	0	0	1	1	1	1	5	0	3	4	5	0	2	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:122626624C>T	ENST00000303924.4	-	4	1921	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	462						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GTGCCCCACCCAGCTTTGTTT	0.413													135	281					0	0	0	0	T	122626624	C	T	122626624	3	4	77	1	0	0	0	0	1	0	0	0	7012	594	21	4	278	4	HAS2	8	122626624	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	9230784	122626624	23737398	211	14683											
FER1L6	654463	broad.mit.edu	37	chr8	125052147	125052147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtttttcagctgagggCtcacatgtaccaagcccggg	8	10	12	11	1	2	1	2	1	0	0	2	1	2	1	2	2	3	5	2	2	2	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:125052147C>T	ENST00000522917.1	+	20	2695	c.2489C>T	c.(2488-2490)gCt>gTt	p.A830V	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.A830V|RP11-959I15.4_ENST00000522005.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	830	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAGCTGAGGGCTCACATGTAC	0.507													68	106					0	0	0	0	T	125052147	C	T	125052147	3	4	77	1	0	0	0	0	1	0	0	0	5860	797	28	4	2563	4	FER1L6	8	125052147	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2425523	125052147	21311875	212	14684											
LRRC6	23639	broad.mit.edu	37	chr8	133622460	133622460	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtctgagatcttttagcAgaactactatcgggtttcac	9	15	9	8	1	3	2	1	1	2	2	4	3	3	2	0	1	3	3	0	1	4	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:133622460A>G	ENST00000519595.1	-	10	1190	c.1092T>C	c.(1090-1092)tcT>tcC	p.S364S	LRRC6_ENST00000518642.1_Silent_p.S361S|LRRC6_ENST00000250173.1_Silent_p.S364S			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	364	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATCTTTTAGCAGAACTACTAT	0.428													42	186					0	0	0	0	G	133622460	A	G	133622460	2	3	77	1	0	0	0	0	0	0	0	1	9080	175	7	5		5	LRRC6	8	133622460	Silent	SNP	A	TCGA-CN-5356-01A-01D-1434-08	8570313	133622460	12741562	213	14685											
ZNF696	79943	broad.mit.edu	37	chr8	144378710	144378710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcaccagcgcgtgcacacgGgggagcggcccttcgcctgc	6	4	15	16	5	0	0	0	0	0	0	1	1	0	1	3	3	5	2	3	3	0	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:144378710G>A	ENST00000330143.3	+	3	1274	c.865G>A	c.(865-867)Ggg>Agg	p.G289R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CGTGCACACGGGGGAGCGGCC	0.726													5	10					0	0	0	0	A	144378710	G	A	144378710	3	1	77	1	0	0	0	0	1	0	0	0	18194	1232	43	4	871	4	ZNF696	8	144378710	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	10756250	144378710	1985312	214	14686											
ZNF623	9831	broad.mit.edu	37	chr8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagattttaactcaactaCaaacgttaaaaataatcaaa	21	10	4	6	1	2	1	2	0	0	1	2	3	2	1	0	0	4	1	0	0	9	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K|ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413													7	248					0.0293803	0.0298124	1	0	A	144733541	C	A	144733541	3	1	77	1	0	0	0	0	1	0	0	0	18142	478	17	4	1501	4	ZNF623	8	144733541	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	354831	144733541	1630481	215	14687											
PLEC	5339	broad.mit.edu	37	chr8	145008864	145008864	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttggctggtagctccAtctccttaaacttcaggaac	8	12	7	14	0	2	0	1	0	1	0	5	1	4	1	4	3	3	3	4	3	4	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:145008864A>T	ENST00000322810.4	-	10	1560	c.1391T>A	c.(1390-1392)aTg>aAg	p.M464K	PLEC_ENST00000436759.2_Missense_Mutation_p.M354K|PLEC_ENST00000345136.3_Missense_Mutation_p.M327K|PLEC_ENST00000527096.1_Missense_Mutation_p.M350K|PLEC_ENST00000357649.2_Missense_Mutation_p.M331K|PLEC_ENST00000356346.3_Missense_Mutation_p.M313K|PLEC_ENST00000398774.2_Missense_Mutation_p.M295K|PLEC_ENST00000354589.3_Missense_Mutation_p.M327K|PLEC_ENST00000354958.2_Missense_Mutation_p.M305K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	464	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGTAGCTCCATCTCCTTAAA	0.637													64	135					0	0	0	0	T	145008864	A	T	145008864	3	4	77	1	0	0	0	0	1	0	0	0	12124	217	8	5	12755	5	PLEC	8	145008864	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	275323	145008864	1355158	216	14688											
JAK2	3717	broad.mit.edu	37	chr9	5054676	5054676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattcagcaattcagccaatGcaaagccactgccagaaact	15	8	6	12	0	2	1	2	0	0	1	2	1	2	1	3	0	6	2	3	0	5	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:5054676G>A	ENST00000381652.3	+	7	1222	c.728G>A	c.(727-729)tGc>tAc	p.C243Y	JAK2_ENST00000544510.1_Missense_Mutation_p.C94Y|JAK2_ENST00000539801.1_Missense_Mutation_p.C243Y	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	243	FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TTCAGCCAATGCAAAGCCACT	0.368		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				70	164					0	0	0	0	A	5054676	G	A	5054676	3	1	77	1	0	0	0	0	1	0	0	0	7991	1319	46	4	746	4	JAK2	9	5054676	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08		5054676	136158755	217	14689											
KIAA1432	57589	broad.mit.edu	37	chr9	5763586	5763586	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcccagtcctgtgccacAttaccttacttccctcatgt	6	14	6	15	0	1	0	1	0	0	0	3	0	3	0	5	1	3	0	5	1	2	4	rs147383296		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:5763586A>G	ENST00000414202.2	+	19	2750	c.2559A>G	c.(2557-2559)acA>acG	p.T853T	KIAA1432_ENST00000418622.3_Silent_p.T774T|KIAA1432_ENST00000251879.6_Silent_p.T853T|KIAA1432_ENST00000449720.2_Silent_p.T737T|KIAA1432_ENST00000381532.2_Silent_p.T774T	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	853						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCTGTGCCACATTACCTTACT	0.537													30	127					0	0	0	0	G	5763586	A	G	5763586	2	3	77	1	0	0	0	0	0	0	0	1	8284	204	8	5		5	KIAA1432	9	5763586	Silent	SNP	A	TCGA-CN-5356-01A-01D-1434-08	708910	5763586	135449845	218	14690											
KDM4C	23081	broad.mit.edu	37	chr9	6805761	6805761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaggagttcaggcagctgGccaacagtggcaagtgagta	12	7	15	7	0	1	2	1	2	0	0	1	3	1	3	1	4	2	5	1	4	4	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:6805761G>A	ENST00000381309.3	+	3	872	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000535193.1_Missense_Mutation_p.A125T|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000401787.3_Missense_Mutation_p.A103T|KDM4C_ENST00000381306.3_Missense_Mutation_p.A103T|KDM4C_ENST00000536108.1_5'UTR|KDM4C_ENST00000543771.1_Missense_Mutation_p.A103T	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	103					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CAGGCAGCTGGCCAACAGTGG	0.418													33	66					0	0	0	0	A	6805761	G	A	6805761	3	1	77	1	0	0	0	0	1	0	0	0	8183	1203	42	4	383	4	KDM4C	9	6805761	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1042175	6805761	134407670	219	14691											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18889684	18889684	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcaaccctgcccactgCgcagggaaggttcgccctgc	7	6	13	15	2	1	0	1	0	0	0	2	2	1	1	3	3	4	2	3	3	2	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:18889684C>G	ENST00000380548.4	+	25	4920	c.4581C>G	c.(4579-4581)tgC>tgG	p.C1527W	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.C228W	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1527						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTGCCCACTGCGCAGGGAAGG	0.657													16	23					0	0	0	0	G	18889684	C	G	18889684	3	3	77	1	0	0	0	0	1	0	0	0	274	776	27	3	4683	3	ADAMTSL1	9	18889684	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	12083923	18889684	122323747	220	14692											
IFNW1	3467	broad.mit.edu	37	chr9	21141013	21141013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggtctctatctttacttCtcagtctttcttgcatgttt	5	20	5	11	0	5	0	1	0	5	0	7	0	5	0	1	1	2	2	1	1	2	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:21141013C>G	ENST00000380229.2	-	1	1131	c.557G>C	c.(556-558)aGa>aCa	p.R186T		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	186					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATCTTTACTTCTCAGTCTTTC	0.378													20	110					0	0	0	0	G	21141013	C	G	21141013	3	3	77	1	0	0	0	0	1	0	0	0	7605	913	32	2	34	2	IFNW1	9	21141013	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2251329	21141013	120072418	221	14693											
ELAVL2	1993	broad.mit.edu	37	chr9	23762230	23762230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattagacagttgtgtttcCatggcagcaattacctgcta	10	13	8	10	0	0	1	0	0	0	1	1	1	1	1	3	1	3	5	3	1	4	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:23762230C>A	ENST00000380110.4	-	3	157	c.90G>T	c.(88-90)atG>atT	p.M30I	ELAVL2_ENST00000223951.6_Start_Codon_SNP_p.M1I|ELAVL2_ENST00000397312.2_Start_Codon_SNP_p.M1I|ELAVL2_ENST00000544538.1_Start_Codon_SNP_p.M1I|ELAVL2_ENST00000380117.1_Start_Codon_SNP_p.M1I			Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	1					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTTGTGTTTCCATGGCAGCAA	0.403													121	301					3.28517e-43	4.38326e-43	1	0	A	23762230	C	A	23762230	3	1	77	1	0	0	0	0	1	0	0	0	5088	594	21	4	1100	4	ELAVL2	9	23762230	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2621217	23762230	117451201	222	14694											
LINGO2	158038	broad.mit.edu	37	chr9	27949987	27949987	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagtcaatctctaggtgtTtcaggtggaacaatctttta	12	15	8	6	0	4	0	2	0	2	0	5	1	4	1	0	3	1	1	0	3	7	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:27949987T>A	ENST00000379992.2	-	6	1132	c.683A>T	c.(682-684)aAa>aTa	p.K228I	LINGO2_ENST00000308675.3_Missense_Mutation_p.K228I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	228						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CTCTAGGTGTTTCAGGTGGAA	0.473													27	119					0	0	0	0	A	27949987	T	A	27949987	3	1	77	1	0	0	0	0	1	0	0	0	8870	1841	64	5	1141	5	LINGO2	9	27949987	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	4187757	27949987	113263444	223	14695											
ROR2	4920	broad.mit.edu	37	chr9	94487036	94487036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggcggacttcaccgtgcgGtcatcatcggtgctgcccac	6	8	13	14	4	3	0	3	0	0	0	4	1	3	1	2	4	3	1	2	4	0	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:94487036G>T	ENST00000375708.3	-	9	1938	c.1740C>A	c.(1738-1740)gaC>gaA	p.D580E	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.D440E	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	580	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			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						TCACCGTGCGGTCATCATCGG	0.632													6	51					2.7689e-08	3.06036e-08	1	0	T	94487036	G	T	94487036	3	4	77	1	0	0	0	0	1	0	0	0	13612	1252	44	4	1095	4	ROR2	9	94487036	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	66537049	94487036	46726395	224	14696											
OR13C8	138802	broad.mit.edu	37	chr9	107332082	107332082	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttctggttattccattgTtagtaatttccatctcttac	7	21	5	8	0	2	0	0	0	2	0	5	0	4	0	2	1	1	4	2	1	4	9			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:107332082T>G	ENST00000335040.1	+	1	634	c.634T>G	c.(634-636)Tta>Gta	p.L212V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TATTCCATTGTTAGTAATTTC	0.403													53	139					0	0	0	0	G	107332082	T	G	107332082	3	3	77	1	0	0	0	0	1	0	0	0	11009	1722	60	5	636	5	OR13C8	9	107332082	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	12845046	107332082	33881349	225	14697											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112898525	112898525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatcacaaaaacatggaaaTtgaggtgtctgttgcagaat	16	10	10	5	0	2	3	1	1	1	2	2	4	2	4	0	2	2	2	0	2	4	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:112898525T>C	ENST00000374530.3	+	8	881	c.701T>C	c.(700-702)aTt>aCt	p.I234T	AKAP2_ENST00000259318.7_Missense_Mutation_p.I3T|AKAP2_ENST00000510514.5_Missense_Mutation_p.I234T|AKAP2_ENST00000374525.1_Missense_Mutation_p.I92T|AKAP2_ENST00000434623.2_Missense_Mutation_p.I92T|AKAP2_ENST00000555236.1_Missense_Mutation_p.I234T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.I234T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		3							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AACATGGAAATTGAGGTGTCT	0.502													45	222					0	0	0	0	C	112898525	T	C	112898525	3	2	77	1	0	0	0	0	1	0	0	0	11481	1493	52	5	731	5	PALM2-AKAP2	9	112898525	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	5566443	112898525	28314906	226	14698											
SVEP1	79987	broad.mit.edu	37	chr9	113168483	113168483	+	Frame_Shift_Del	DEL	C	C	-																															ggtgtgtgcctctccagttgCcactgcattggcgacagacg																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:113168483delC	ENST00000401783.2	-	38	9733	c.9397delG	c.(9397-9399)cafs	p.A3133fs	SVEP1_ENST00000297826.5_Frame_Shift_Del_p.A1059fs|SVEP1_ENST00000374469.1_Frame_Shift_Del_p.A3110fs	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3133	Sushi 29.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCCAGTTGCCACTGCATTG	0.512													55	139	---	---	---	---					-	113168483	C	-	113168483	7	5	77	1	0	1	0	1	0	0	0	0	15510	739	26	0	1362	0	SVEP1	9	113168483	Frame_Shift_Del	DEL	C	TCGA-CN-5356-01A-01D-1434-08	269958	113168483	28044948	227	14699											
TNC	3371	broad.mit.edu	37	chr9	117848972	117848972	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggtgtggcaggcatgtggGcaggtgggtttcccgcagtc	4	10	19	8	1	0	0	0	0	0	0	2	0	1	0	1	6	0	5	1	6	0	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:117848972G>T	ENST00000350763.4	-	3	1449	c.1038C>A	c.(1036-1038)tgC>tgA	p.C346*	TNC_ENST00000542877.1_Nonsense_Mutation_p.C346*|TNC_ENST00000340094.3_Nonsense_Mutation_p.C346*|TNC_ENST00000423613.2_Nonsense_Mutation_p.C346*|TNC_ENST00000535648.1_Nonsense_Mutation_p.C346*|TNC_ENST00000341037.4_Nonsense_Mutation_p.C346*|TNC_ENST00000537320.1_Nonsense_Mutation_p.C346*|TNC_ENST00000345230.3_Nonsense_Mutation_p.C346*|TNC_ENST00000346706.3_Nonsense_Mutation_p.C346*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	346	EGF-like 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGGCATGTGGGCAGGTGGGTT	0.612													12	60					1.5842e-08	1.76306e-08	1	0	T	117848972	G	T	117848972	4	4	77	1	0	0	0	0	0	1	0	0	16364	1195	42	4	5671	4	TNC	9	117848972	Nonsense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	4680489	117848972	23364459	228	14700											
OR5C1	392391	broad.mit.edu	37	chr9	125551651	125551651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgcagcgtctatgcctggCcttgctgggagcatcaggcc	5	9	14	13	2	2	0	1	0	1	0	3	1	2	1	3	3	4	3	3	3	1	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:125551651C>T	ENST00000373680.2	+	1	502	c.440C>T	c.(439-441)gCc>gTc	p.A147V		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTATGCCTGGCCTTGCTGGGA	0.572													40	74					0	0	0	0	T	125551651	C	T	125551651	3	4	77	1	0	0	0	0	1	0	0	0	11224	739	26	4	442	4	OR5C1	9	125551651	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	7702679	125551651	15661780	229	14701											
LHX2	9355	broad.mit.edu	37	chr9	126776323	126776323	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccgctactacctgctggcGgtggacaagcagtggcacat	9	7	13	12	2	0	0	0	0	0	0	0	2	0	1	2	4	4	4	2	4	3	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:126776323G>T	ENST00000373615.4	+	2	943	c.204G>T	c.(202-204)gcG>gcT	p.A68A		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	68	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						ACCTGCTGGCGGTGGACAAGC	0.637													18	94					3.51602e-12	4.11195e-12	1	0	T	126776323	G	T	126776323	2	4	77	1	0	0	0	0	0	0	0	1	8825	1103	39	3		3	LHX2	9	126776323	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1224672	126776323	14437108	230	14702											
PRDM12	59335	broad.mit.edu	37	chr9	133542106	133542106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacgtggatcaaggcgggaaCcgagatgggccccttcaccg	9	5	15	12	4	2	1	2	0	0	1	2	5	2	3	4	4	1	0	4	4	2	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:133542106C>A	ENST00000253008.2	+	2	395	c.335C>A	c.(334-336)aCc>aAc	p.T112N		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	112	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		AAGGCGGGAACCGAGATGGGC	0.647													36	125					6.07928e-31	7.91453e-31	1	0	A	133542106	C	A	133542106	3	1	77	1	0	0	0	0	1	0	0	0	12533	507	18	4	341	4	PRDM12	9	133542106	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	6765783	133542106	7671325	231	14703											
MAMDC4	158056	broad.mit.edu	37	chr9	139748462	139748462	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaccttctctgccaccCgaaatgccacccacaggggc	9	6	10	16	1	1	1	0	1	1	0	2	2	1	1	5	3	2	0	5	3	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:139748462C>T	ENST00000445819.1	+	6	654	c.604C>T	c.(604-606)Cga>Tga	p.R202*	MAMDC4_ENST00000317446.2_Nonsense_Mutation_p.R202*|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	202	MAM 1.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTCTGCCACCCGAAATGCCAC	0.622													25	122					0	0	0	0	T	139748462	C	T	139748462	4	4	77	1	0	0	0	0	0	1	0	0	9273	644	23	1	626	1	MAMDC4	9	139748462	Nonsense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	6206356	139748462	1464969	232	14704											
ITIH5	80760	broad.mit.edu	37	chr10	7708782	7708782	+	Frame_Shift_Del	DEL	C	C	-																															ttacctgctccgaagagtggCcccagctctgcgcctcttcc																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:7708782delC	ENST00000256861.6	-	1	152	c.74delG	c.(73-75)gcfs	p.G25fs	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Frame_Shift_Del_p.G25fs|ITIH5_ENST00000397145.2_Frame_Shift_Del_p.G25fs	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	25					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGAAGAGTGGCCCCAGCTCTG	0.766													18	57	---	---	---	---					-	7708782	C	-	7708782	7	5	77	1	0	1	0	1	0	0	0	0	7960	739	26	0	2947	0	ITIH5	10	7708782	Frame_Shift_Del	DEL	C	TCGA-CN-5356-01A-01D-1434-08		7708782	127825965	233	14705											
ECHDC3	79746	broad.mit.edu	37	chr10	11805415	11805415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctacaagcagctgccccagGacctggggacggcttactac	9	7	11	14	1	1	0	0	0	1	0	1	2	1	2	3	4	6	3	3	4	4	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:11805415G>A	ENST00000379215.4	+	5	995	c.784G>A	c.(784-786)Gac>Aac	p.D262N	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969.2	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	262						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						GCTGCCCCAGGACCTGGGGAC	0.637													25	55					0	0	0	0	A	11805415	G	A	11805415	3	1	77	1	0	0	0	0	1	0	0	0	4931	1174	41	2	802	2	ECHDC3	10	11805415	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	4096633	11805415	123729332	234	14706											
CUBN	8029	broad.mit.edu	37	chr10	16873368	16873368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtttggcagcagagttcCacagtacttgcccagtaatg	10	10	12	9	0	0	1	0	0	0	1	1	1	1	1	2	2	3	6	2	2	2	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:16873368C>T	ENST00000377833.4	-	65	10476	c.10411G>A	c.(10411-10413)Gga>Aga	p.G3471R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3471	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCAGAGTTCCACAGTACTTG	0.373													48	202					0	0	0	0	T	16873368	C	T	16873368	3	4	77	1	0	0	0	0	1	0	0	0	4083	603	21	4	472	4	CUBN	10	16873368	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	5067953	16873368	118661379	235	14707											
NEBL	10529	broad.mit.edu	37	chr10	21139422	21139422	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttttctcatattcttcttTatatttcaccttcattggaa	9	22	2	8	0	5	0	3	0	3	0	6	1	5	1	1	1	0	0	1	1	4	11			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:21139422T>C	ENST00000377122.4	-	11	1414	c.1018A>G	c.(1018-1020)Aaa>Gaa	p.K340E	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	340					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TATTCTTCTTTATATTTCACC	0.318													45	132					0	0	0	0	C	21139422	T	C	21139422	3	2	77	1	0	0	0	0	1	0	0	0	10373	1763	61	5	2098	5	NEBL	10	21139422	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	4266054	21139422	114395325	236	14708											
ZEB1	6935	broad.mit.edu	37	chr10	31810534	31810534	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actatcactagtgtttaccaGaacagtgtttattctgtcca	11	15	6	9	0	2	1	1	0	1	1	3	1	3	1	2	0	2	2	2	0	5	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:31810534G>C	ENST00000446923.2	+	7	2614	c.2223G>C	c.(2221-2223)caG>caC	p.Q741H	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.Q757H|ZEB1_ENST00000542815.3_Missense_Mutation_p.Q690H|ZEB1_ENST00000361642.5_Missense_Mutation_p.Q758H|ZEB1_ENST00000560721.2_Missense_Mutation_p.Q737H	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	757					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GTGTTTACCAGAACAGTGTTT	0.418													58	92					0	0	0	0	C	31810534	G	C	31810534	3	2	77	1	0	0	0	0	1	0	0	0	17718	933	33	2	2311	2	ZEB1	10	31810534	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	10671112	31810534	103724213	237	14709											
ARHGAP12	94134	broad.mit.edu	37	chr10	32128565	32128565	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcttctatcatactaacTgtatcttggtgctttggtga	8	18	8	7	0	3	1	1	1	2	0	3	1	3	1	0	2	4	3	0	2	5	8			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:32128565T>C	ENST00000311380.4	-	5	1248	c.1230_splice	c.e5+1	p.T410_splice	ARHGAP12_ENST00000344936.2_Splice_Site_p.T457_splice|ARHGAP12_ENST00000396144.4_Splice_Site_p.T457_splice|ARHGAP12_ENST00000375250.5_Intron|ARHGAP12_ENST00000375245.4_Splice_Site_p.T410_splice	NM_001270697.1|NM_001270699.1	NP_001257626.1|NP_001257628.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	457					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.T457T(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TCATACTAACTGTATCTTGGT	0.328													32	73					0	0	0	0	C	32128565	T	C	32128565	5	2	77	1	0	0	0	0	0	0	1	0	867	1594	55	5	1221	5	ARHGAP12	10	32128565	Splice_Site	SNP	T	TCGA-CN-5356-01A-01D-1434-08	318031	32128565	103406182	238	14710											
ANKRD30A	91074	broad.mit.edu	37	chr10	37505229	37505229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaatgaaaaagaagttttGtgtactgaaaaagaaactgt	20	10	8	3	0	0	4	0	2	0	2	0	4	0	4	0	0	2	2	0	0	8	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:37505229G>A	ENST00000374660.1	+	38	3278	c.3179G>A	c.(3178-3180)tGt>tAt	p.C1060Y	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.C941Y|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.C941Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1063						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGAAGTTTTGTGTACTGAAA	0.353													25	103					0	0	0	0	A	37505229	G	A	37505229	3	1	77	1	0	0	0	0	1	0	0	0	658	1377	48	4	2948	4	ANKRD30A	10	37505229	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	5376664	37505229	98029518	239	14711											
A1CF	29974	broad.mit.edu	37	chr10	52570857	52570857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgtacaagaatagctgtCtttggtcttgtccaatagca	10	16	8	7	0	2	1	0	0	2	1	3	1	3	1	1	1	3	3	1	1	6	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:52570857C>G	ENST00000395489.2	-	13	1802	c.1406G>C	c.(1405-1407)aGa>aCa	p.R469T	A1CF_ENST00000373995.3_Missense_Mutation_p.R476T|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373997.3_Missense_Mutation_p.R468T|A1CF_ENST00000282641.2_Missense_Mutation_p.R476T|A1CF_ENST00000395495.1_Missense_Mutation_p.R421T|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373993.1_Missense_Mutation_p.R476T|A1CF_ENST00000374001.1_Missense_Mutation_p.R468T	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	476					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GAATAGCTGTCTTTGGTCTTG	0.388													15	67					0	0	0	0	G	52570857	C	G	52570857	3	3	77	1	0	0	0	0	1	0	0	0	2	913	32	2	369	2	A1CF	10	52570857	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	15065628	52570857	82963890	240	14712											
PCDH15	65217	broad.mit.edu	37	chr10	56106239	56106239	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattgtggtaccaactggAgtgagctgaaaggaaaaaag	17	8	12	4	0	0	2	0	2	0	0	0	4	0	4	1	3	3	2	1	3	8	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:56106239A>T	ENST00000373965.2	-	6	874	c.480T>A	c.(478-480)acT>acA	p.T160T	PCDH15_ENST00000395440.1_Silent_p.T160T|PCDH15_ENST00000395442.1_Silent_p.T160T|PCDH15_ENST00000395432.2_Silent_p.T160T|PCDH15_ENST00000414778.1_Silent_p.T165T|PCDH15_ENST00000320301.6_Silent_p.T160T|PCDH15_ENST00000395430.1_Silent_p.T160T|PCDH15_ENST00000361849.3_Silent_p.T160T|PCDH15_ENST00000395446.1_Silent_p.T160T|PCDH15_ENST00000373957.3_Silent_p.T138T|PCDH15_ENST00000437009.1_Silent_p.T160T|PCDH15_ENST00000373955.1_Silent_p.T160T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Silent_p.T160T|PCDH15_ENST00000395438.1_Silent_p.T160T|PCDH15_ENST00000395433.1_Silent_p.T138T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	160	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TACCAACTGGAGTGAGCTGAA	0.333										HNSCC(58;0.16)			34	185					0	0	0	0	T	56106239	A	T	56106239	2	4	77	1	0	0	0	0	0	0	0	1	11582	291	11	5		5	PCDH15	10	56106239	Silent	SNP	A	TCGA-CN-5356-01A-01D-1434-08	3535382	56106239	79428508	241	14713											
PCDH15	65217	broad.mit.edu	37	chr10	56138617	56138617	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcaacacccagtaatcCacattatcctttaaagaaag	16	10	3	12	0	1	1	1	0	0	1	4	1	4	1	4	0	1	1	4	0	6	4	rs151119732	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:56138617C>A	ENST00000373965.2	-	4	637	c.243G>T	c.(241-243)gtG>gtT	p.V81V	PCDH15_ENST00000395440.1_Silent_p.V81V|PCDH15_ENST00000395442.1_Silent_p.V81V|PCDH15_ENST00000395432.2_Silent_p.V81V|PCDH15_ENST00000414778.1_Silent_p.V86V|PCDH15_ENST00000320301.6_Silent_p.V81V|PCDH15_ENST00000395430.1_Silent_p.V81V|PCDH15_ENST00000361849.3_Silent_p.V81V|PCDH15_ENST00000395446.1_Silent_p.V81V|PCDH15_ENST00000373957.3_Silent_p.V59V|PCDH15_ENST00000437009.1_Silent_p.V81V|PCDH15_ENST00000373955.1_Silent_p.V81V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Silent_p.V81V|PCDH15_ENST00000395438.1_Silent_p.V81V|PCDH15_ENST00000395433.1_Silent_p.V59V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	81	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCAGTAATCCACATTATCCT	0.433										HNSCC(58;0.16)			80	221					4.03997e-35	5.31691e-35	1	0	A	56138617	C	A	56138617	2	1	77	1	0	0	0	0	0	0	0	1	11582	581	21	4		4	PCDH15	10	56138617	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	32378	56138617	79396130	242	14714											
ANXA7	310	broad.mit.edu	37	chr10	75138725	75138725	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctgtgccagcaccttTcatagcatagtagagcctct	9	12	8	12	0	4	1	2	0	2	1	4	1	4	1	3	0	4	3	3	0	3	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:75138725T>A	ENST00000372921.4	-	12	1278	c.1222A>T	c.(1222-1224)Aaa>Taa	p.K408*	ANXA7_ENST00000535178.1_Nonsense_Mutation_p.K278*	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	430							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CCAGCACCTTTCATAGCATAG	0.512													8	77					0	0	0	0	A	75138725	T	A	75138725	4	1	77	1	0	0	0	0	0	1	0	0	722	1792	62	5	186	5	ANXA7	10	75138725	Nonsense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	19000108	75138725	60396022	243	14715											
HTR7	3363	broad.mit.edu	37	chr10	92617175	92617175	+	Frame_Shift_Del	DEL	C	C	-																															tgatgagcgtcaggatggagCcgatcacaactttctcgact																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:92617175delC	ENST00000371721.3	-	1	496	c.254delG	c.(253-255)gcfs	p.G85fs	HTR7_ENST00000336152.3_Frame_Shift_Del_p.G85fs|HTR7_ENST00000371719.2_Frame_Shift_Del_p.G85fs|HTR7_ENST00000277874.6_Frame_Shift_Del_p.G85fs			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	85					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CAGGATGGAGCCGATCACAAC	0.632													29	74	---	---	---	---					-	92617175	C	-	92617175	7	5	77	1	0	1	0	1	0	0	0	0	7505	739	26	0	1205	0	HTR7	10	92617175	Frame_Shift_Del	DEL	C	TCGA-CN-5356-01A-01D-1434-08	17478450	92617175	42917572	244	14716											
SORCS3	22986	broad.mit.edu	37	chr10	107022247	107022247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagctggacacgcgggtcaTaggtacatgctcctgctcca	9	8	12	12	2	1	1	1	0	0	1	3	2	3	2	2	3	4	4	2	3	2	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:107022247T>C	ENST00000369701.3	+	26	3829	c.3602T>C	c.(3601-3603)aTa>aCa	p.I1201T		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1201						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACGCGGGTCATAGGTACATGC	0.542													25	63					0	0	0	0	C	107022247	T	C	107022247	3	2	77	1	0	0	0	0	1	0	0	0	15020	1406	49	5	3704	5	SORCS3	10	107022247	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	14405072	107022247	28512500	245	14717											
GFRA1	2674	broad.mit.edu	37	chr10	117884808	117884808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcttcataggagcacaCaggcacgatggtctgtcgcc	8	9	10	14	2	3	0	1	0	2	0	5	2	3	1	2	3	1	2	2	3	1	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:117884808C>G	ENST00000439649.3	-	5	1046	c.679G>C	c.(679-681)Gtg>Ctg	p.V227L	GFRA1_ENST00000369236.1_Missense_Mutation_p.V227L|GFRA1_ENST00000355422.6_Missense_Mutation_p.V232L|GFRA1_ENST00000544592.1_Missense_Mutation_p.V111L	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	232					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TAGGAGCACACAGGCACGATG	0.562													32	73					0	0	0	0	G	117884808	C	G	117884808	3	3	77	1	0	0	0	0	1	0	0	0	6398	478	17	4	727	4	GFRA1	10	117884808	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	10862561	117884808	17649939	246	14718											
TH	7054	broad.mit.edu	37	chr11	2189385	2189385	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacacttgtccagctctGacacttttcttgggaaccag	9	12	9	11	0	2	2	0	2	2	0	3	4	3	3	2	1	2	1	2	1	1	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:2189385G>T	ENST00000381178.1	-	5	623	c.605C>A	c.(604-606)tCa>tAa	p.S202*	TH_ENST00000333684.5_Nonsense_Mutation_p.S175*|TH_ENST00000381175.1_Nonsense_Mutation_p.S198*|TH_ENST00000352909.3_Nonsense_Mutation_p.S171*	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	202					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GTCCAGCTCTGACACTTTTCT	0.597													25	57					2.79863e-10	3.18056e-10	1	0	T	2189385	G	T	2189385	4	4	77	1	0	0	0	0	0	1	0	0	15932	1294	45	2	1021	2	TH	11	2189385	Nonsense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08		2189385	132817131	247	14719											
OR52I2	143502	broad.mit.edu	37	chr11	4608360	4608360	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacattgttatggcctcctcGgtggtacccaagatggtgag	8	11	13	9	1	0	2	0	1	0	1	2	3	1	2	3	4	1	2	3	4	3	3	rs149411057	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:4608360G>C	ENST00000312614.4	+	1	340	c.318G>C	c.(316-318)tcG>tcC	p.S106S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCCTCCTCGGTGGTACCCA	0.493													68	204					0	0	0	0	C	4608360	G	C	4608360	2	2	77	1	0	0	0	0	0	0	0	1	11192	1103	39	3		3	OR52I2	11	4608360	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2418975	4608360	130398156	248	14720											
OR10A5	144124	broad.mit.edu	37	chr11	6867339	6867339	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcatgaaccaaaggacacgGgccaaactggctgctgcttc	12	7	10	12	1	1	1	1	1	0	0	2	2	1	2	2	3	4	3	2	3	3	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:6867339G>T	ENST00000299454.4	+	1	457	c.426G>T	c.(424-426)cgG>cgT	p.R142R	OR10A5_ENST00000379831.2_Silent_p.R146R			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAAGGACACGGGCCAAACTGG	0.537													16	194					2.35188e-11	2.7176e-11	1	0	T	6867339	G	T	6867339	2	4	77	1	0	0	0	0	0	0	0	1	10964	1219	43	4		4	OR10A5	11	6867339	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2258979	6867339	128139177	249	14721											
OR10A2	341276	broad.mit.edu	37	chr11	6891366	6891366	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcatgaaccaaaggacTcgtgccaaactggctgctgc	11	8	10	12	1	2	1	2	1	0	0	3	2	2	2	2	2	5	2	2	2	3	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:6891366T>A	ENST00000307322.4	+	1	443	c.381T>A	c.(379-381)acT>acA	p.T127T		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCAAAGGACTCGTGCCAAAC	0.537													7	235					0	0	0	0	A	6891366	T	A	6891366	2	1	77	1	0	0	0	0	0	0	0	1	10961	1538	54	5		5	OR10A2	11	6891366	Silent	SNP	T	TCGA-CN-5356-01A-01D-1434-08	24027	6891366	128115150	250	14722											
NELL1	4745	broad.mit.edu	37	chr11	20939793	20939793	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataacacagtgtccaaatctAaatcacagtaagtagcaact	18	9	5	9	0	2	0	1	0	1	0	3	0	3	0	1	0	3	3	1	0	7	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:20939793A>G	ENST00000298925.5	+	7	906	c.753A>G	c.(751-753)ctA>ctG	p.L251L	NELL1_ENST00000532434.1_Silent_p.L223L|NELL1_ENST00000325319.5_Silent_p.L166L|NELL1_ENST00000357134.5_Silent_p.L223L			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	223					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTCCAAATCTAAATCACAGTA	0.343													65	101					0	0	0	0	G	20939793	A	G	20939793	2	3	77	1	0	0	0	0	0	0	0	1	10403	349	13	5		5	NELL1	11	20939793	Silent	SNP	A	TCGA-CN-5356-01A-01D-1434-08	14048427	20939793	114066723	251	14723											
NELL1	4745	broad.mit.edu	37	chr11	21581766	21581766	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccttaagaactcacacCtgttggaacgattctgcctg	9	12	9	11	1	2	1	1	0	1	1	2	3	2	2	3	1	4	1	3	1	3	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:21581766C>T	ENST00000298925.5	+	18	2055	c.1902C>T	c.(1900-1902)acC>acT	p.T634T	NELL1_ENST00000532434.1_Silent_p.T559T|NELL1_ENST00000325319.5_Silent_p.T549T|NELL1_ENST00000357134.5_Silent_p.T606T|NELL1_ENST00000529218.1_Intron			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	606	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAACTCACACCTGTTGGAACG	0.502													66	130					0	0	0	0	T	21581766	C	T	21581766	2	4	77	1	0	0	0	0	0	0	0	1	10403	668	24	4		4	NELL1	11	21581766	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	641973	21581766	113424750	252	14724											
SLC17A6	57084	broad.mit.edu	37	chr11	22360160	22360160	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaaatcactcggccagatCtacaggtaagacaaagcgaa	17	5	10	9	2	2	2	1	0	1	2	3	4	2	3	1	3	2	1	1	3	6	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:22360160C>G	ENST00000263160.3	+	1	518	c.81C>G	c.(79-81)atC>atG	p.I27M		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	27					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.I27I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCGGCCAGATCTACAGGTAAG	0.453													15	32					0	0	0	0	G	22360160	C	G	22360160	3	3	77	1	0	0	0	0	1	0	0	0	14509	903	32	2	83	2	SLC17A6	11	22360160	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	778394	22360160	112646356	253	14725											
HIPK3	10114	broad.mit.edu	37	chr11	33375104	33375104	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaactcagccagtatcCatatatgtgaaaaacagtat	19	9	5	8	0	1	1	1	1	0	0	2	1	2	1	2	0	4	2	2	0	9	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:33375104C>A	ENST00000303296.4	+	17	3943	c.3638C>A	c.(3637-3639)cCa>cAa	p.P1213Q	HIPK3_ENST00000525975.1_Missense_Mutation_p.P1192Q|HIPK3_ENST00000379016.3_Missense_Mutation_p.P1192Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.P1192Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1213					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGCCAGTATCCATATATGTGA	0.353													51	57					2.27781e-18	2.80659e-18	1	0	A	33375104	C	A	33375104	3	1	77	1	0	0	0	0	1	0	0	0	7168	594	21	4	3700	4	HIPK3	11	33375104	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	11014944	33375104	101631412	254	14726											
ALX4	60529	broad.mit.edu	37	chr11	44297071	44297071	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctgagtcggccttctccaAtgggctggggaggtctgagc	5	10	15	11	1	3	2	0	2	3	0	5	3	3	3	2	5	1	1	2	5	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:44297071A>G	ENST00000329255.3	-	2	707	c.604T>C	c.(604-606)Ttg>Ctg	p.L202L		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	202					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCCTTCTCCAATGGGCTGGGG	0.617													93	178					0	0	0	0	G	44297071	A	G	44297071	2	3	77	1	0	0	0	0	0	0	0	1	558	98	4	5		5	ALX4	11	44297071	Silent	SNP	A	TCGA-CN-5356-01A-01D-1434-08	10921967	44297071	90709445	255	14727											
LRP4	4038	broad.mit.edu	37	chr11	46896618	46896618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccgaggcaagcagaggtggGagcagccgccatttctcgag	9	5	16	11	3	1	1	0	0	1	1	2	4	1	2	3	3	3	3	3	3	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:46896618G>A	ENST00000378623.1	-	28	4204	c.3962C>T	c.(3961-3963)tCc>tTc	p.S1321F		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1321					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCAGAGGTGGGAGCAGCCGCC	0.547													13	28					0	0	0	0	A	46896618	G	A	46896618	3	1	77	1	0	0	0	0	1	0	0	0	9023	1174	41	2	1799	2	LRP4	11	46896618	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2599547	46896618	88109898	256	14728											
OR4C16	219428	broad.mit.edu	37	chr11	55339627	55339627	+	Silent	SNP	T	T	C																															caactgaataataatgtgacTgagttcattctgcttggatt																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:55339627T>C	ENST00000314634.3	+	1	24	c.24T>C	c.(22-24)acT>acC	p.T8T		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATAATGTGACTGAGTTCATTC	0.378													5	115					0	0	0	0	C	55339627	T	C	55339627	2	2	77	1	0	0	0	0	0	0	0	1	11120	1567	55	5		5	OR4C16	11	55339627	Silent	SNP	T	TCGA-CN-5356-01A-01D-1434-08	8443009	55339627	79666889	257	14729	125	2									
OR4C16	219428	broad.mit.edu	37	chr11	55339628	55339628	+	Nonsense_Mutation	SNP	G	G	T																															aactgaataataatgtgactGagttcattctgcttggattg																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:55339628G>T	ENST00000314634.3	+	1	25	c.25G>T	c.(25-27)Gag>Tag	p.E9*		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TAATGTGACTGAGTTCATTCT	0.373													5	114					4.68919e-08	5.17096e-08	1	0	T	55339628	G	T	55339628	4	4	77	1	0	0	0	0	0	1	0	0	11120	1291	45	2	27	2	OR4C16	11	55339628	Nonsense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1	55339628	79666888	258	14730	125	2									
OR4C6	219432	broad.mit.edu	37	chr11	55433099	55433100	+	Frame_Shift_Ins	INS	-	-	A																															ttgggtggggggatttatgcINSacgcaatgatacaacttctc																								rs149652704		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:55433099_55433100insA	ENST00000314259.3	+	1	486_487	c.457_458insA	c.(457-459)cgcfs	p.R153fs		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGGATTTATGCACGCAATGATA	0.47													17	171	---	---	---	---					A	55433100	-	A	55433099	7	5	77	1	0	1	1	0	0	0	0	0	11123	710	25	0	459	0	OR4C6	11	55433099	Frame_Shift_Ins	INS	-	TCGA-CN-5356-01A-01D-1434-08	93471	55433099	79573417	259	14731											
OR5M3	219482	broad.mit.edu	37	chr11	56237559	56237559	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtaatcagtcgaatacAgacaacccttgacattttac	16	10	6	9	1	1	2	1	1	0	1	2	4	1	2	1	0	3	1	1	0	6	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:56237559A>G	ENST00000312240.2	-	1	455	c.415T>C	c.(415-417)Tgt>Cgt	p.C139R		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGTCGAATACAGACAACCCTT	0.398													67	130					0	0	0	0	G	56237559	A	G	56237559	3	3	77	1	0	0	0	0	1	0	0	0	11246	188	7	5	510	5	OR5M3	11	56237559	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	804460	56237559	78768957	260	14732											
OR5A2	219981	broad.mit.edu	37	chr11	59190426	59190426	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgttccttcctacagccaTaggcctgcttcctgcataaa	8	13	7	13	0	0	0	0	0	0	0	3	0	3	0	5	1	4	4	5	1	4	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:59190426T>C	ENST00000302040.4	-	1	23	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCTACAGCCATAGGCCTGCTT	0.378													77	182					0	0	0	0	C	59190426	T	C	59190426	1	2	77	1	0	0	0	0	0	0	0	0	11211	1420	49	5		5	OR5A2	11	59190426	Translation_Start_Site	SNP	T	TCGA-CN-5356-01A-01D-1434-08	2952867	59190426	75816090	261	14733											
LTBP3	4054	broad.mit.edu	37	chr11	65310657	65310657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attggtattgatgcagtcacCcccaatgcaggctgcaggga	10	9	12	10	0	1	1	1	1	0	0	1	2	1	2	2	3	3	5	2	3	2	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:65310657C>A	ENST00000301873.5	-	18	2783	c.2515G>T	c.(2515-2517)Ggt>Tgt	p.G839C	LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000536982.1_Missense_Mutation_p.G465C|LTBP3_ENST00000322147.4_Missense_Mutation_p.G839C|LTBP3_ENST00000532932.1_Missense_Mutation_p.G269C	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	839	Cys-rich.|EGF-like 8; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						ATGCAGTCACCCCCAATGCAG	0.582													22	136					0.012319	0.0126061	1	0	A	65310657	C	A	65310657	3	1	77	1	0	0	0	0	1	0	0	0	9139	623	22	4	1440	4	LTBP3	11	65310657	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	6120231	65310657	69695859	262	14734											
PITPNM1	9600	broad.mit.edu	37	chr11	67261436	67261436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaccaatgcccagcgcgcGttctgggggaactgggaagg	9	5	16	11	3	1	0	0	0	1	0	1	3	1	2	2	4	3	1	2	4	3	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:67261436G>A	ENST00000356404.3	-	20	3190	c.2965C>T	c.(2965-2967)Cgc>Tgc	p.R989C	PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R988C|PITPNM1_ENST00000534749.1_Missense_Mutation_p.R989C	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	989					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCCAGCGCGCGTTCTGGGGGA	0.682													9	20					0	0	0	0	A	67261436	G	A	67261436	3	1	77	1	0	0	0	0	1	0	0	0	12022	1145	40	1	789	1	PITPNM1	11	67261436	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1950779	67261436	67745080	263	14735											
SLCO2B1	11309	broad.mit.edu	37	chr11	74873807	74873807	+	Frame_Shift_Del	DEL	C	C	-																															cagaccctcaggacgtgcggCcaagtgtgttccataacatc																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:74873807delC	ENST00000289575.5	+	2	519	c.124delC	c.(124-126)cafs	p.P42fs	SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000428359.2_Frame_Shift_Del_p.P20fs|SLCO2B1_ENST00000532236.1_Intron|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000526660.1_Intron	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	42					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GGACGTGCGGCCAAGTGTGTT	0.582													60	153	---	---	---	---					-	74873807	C	-	74873807	7	5	77	1	0	1	0	1	0	0	0	0	14815	739	26	0	130	0	SLCO2B1	11	74873807	Frame_Shift_Del	DEL	C	TCGA-CN-5356-01A-01D-1434-08	7612371	74873807	60132709	264	14736											
NARS2	79731	broad.mit.edu	37	chr11	78279726	78279726	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttttctgccttcagttcCacattttgccttttggatgg	5	20	7	9	0	2	0	1	0	1	0	3	1	3	1	3	2	2	1	3	2	0	9			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:78279726C>A	ENST00000281038.5	-	3	699	c.324G>T	c.(322-324)gtG>gtT	p.V108V	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	108					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CCTTCAGTTCCACATTTTGCC	0.348													53	117					1.63038e-21	2.05071e-21	1	0	A	78279726	C	A	78279726	2	1	77	1	0	0	0	0	0	0	0	1	10241	581	21	4		4	NARS2	11	78279726	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	3405919	78279726	56726790	265	14737											
DLG2	1740	broad.mit.edu	37	chr11	83673957	83673957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcgtcaacaagcatgtgCtttggaattggtgagtacct	9	13	11	8	2	1	1	1	1	0	0	3	2	1	2	1	2	4	3	1	2	4	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:83673957C>A	ENST00000398309.2	-	9	1466	c.996G>T	c.(994-996)aaG>aaT	p.K332N	DLG2_ENST00000330014.6_Missense_Mutation_p.K271N|DLG2_ENST00000531015.1_Missense_Mutation_p.K299N|DLG2_ENST00000532653.1_Missense_Mutation_p.K332N|DLG2_ENST00000543673.1_Missense_Mutation_p.K437N|DLG2_ENST00000418306.2_Missense_Mutation_p.K281N|DLG2_ENST00000280241.8_Missense_Mutation_p.K371N|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000376104.2_Missense_Mutation_p.K437N|DLG2_ENST00000537455.1_Missense_Mutation_p.K86N|DLG2_ENST00000398301.2_Missense_Mutation_p.K371N|DLG2_ENST00000524982.1_Missense_Mutation_p.K332N	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	332						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CAAGCATGTGCTTTGGAATTG	0.428													73	189					1.1397e-45	1.52487e-45	1	0	A	83673957	C	A	83673957	3	1	77	1	0	0	0	0	1	0	0	0	4592	796	28	4	1726	4	DLG2	11	83673957	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	5394231	83673957	51332559	266	14738											
GRM5	2915	broad.mit.edu	37	chr11	88386571	88386571	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtcagcccagccatcActgtggggaaataaaaaaac	15	7	8	11	0	2	0	2	0	0	0	2	1	2	1	3	2	4	0	3	2	6	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:88386571A>T	ENST00000418177.2	-	4	1279	c.911_splice	c.e4-1	p.S304_splice	GRM5_ENST00000393297.1_Splice_Site_p.S304_splice|GRM5_ENST00000305432.5_Splice_Site_p.S304_splice|GRM5_ENST00000305447.4_Splice_Site_p.S304_splice|GRM5_ENST00000455756.2_Splice_Site_p.S304_splice			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	304					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCCAGCCATCACTGTGGGGAA	0.433													28	30					0	0	0	0	T	88386571	A	T	88386571	5	4	77	1	0	0	0	0	0	0	1	0	6850	173	6	5	2754	5	GRM5	11	88386571	Splice_Site	SNP	A	TCGA-CN-5356-01A-01D-1434-08	4712614	88386571	46619945	267	14739											
FAT3	120114	broad.mit.edu	37	chr11	92085313	92085313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacactgtgtgggcacacGgcctcctgcttgttgcctca	5	10	13	13	1	1	0	1	0	0	0	2	1	2	1	3	3	2	3	3	3	0	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:92085313G>T	ENST00000298047.6	+	1	52	c.35G>T	c.(34-36)cGg>cTg	p.R12L	FAT3_ENST00000541502.1_Missense_Mutation_p.R12L|FAT3_ENST00000409404.2_Missense_Mutation_p.R12L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	12					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGGCACACGGCCTCCTGCT	0.502										TCGA Ovarian(4;0.039)			11	85					9.31168e-06	1.00168e-05	1	0	T	92085313	G	T	92085313	3	4	77	1	0	0	0	0	1	0	0	0	5736	1116	39	3	37	3	FAT3	11	92085313	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	3698742	92085313	42921203	268	14740											
FAT3	120114	broad.mit.edu	37	chr11	92086560	92086560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattaatcctcggtcgggtCtgattgttacagcacggcca	10	11	10	10	3	1	1	0	1	1	0	4	1	2	1	2	3	2	2	2	3	3	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:92086560C>A	ENST00000298047.6	+	1	1299	c.1282C>A	c.(1282-1284)Ctg>Atg	p.L428M	FAT3_ENST00000525166.1_Missense_Mutation_p.L278M|FAT3_ENST00000541502.1_Missense_Mutation_p.L428M|FAT3_ENST00000409404.2_Missense_Mutation_p.L428M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	428	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCGGTCGGGTCTGATTGTTAC	0.408										TCGA Ovarian(4;0.039)			9	20					1.58986e-06	1.72951e-06	1	0	A	92086560	C	A	92086560	3	1	77	1	0	0	0	0	1	0	0	0	5736	912	32	2	1284	2	FAT3	11	92086560	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	1247	92086560	42919956	269	14741											
CEP57	9702	broad.mit.edu	37	chr11	95564303	95564303	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcacagggaccacaaataaGaaagattttatgaaactgag	19	8	8	6	0	1	4	1	2	0	2	1	5	1	5	1	1	1	0	1	1	5	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:95564303G>A	ENST00000325542.5	+	11	1624	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	CEP57_ENST00000537677.1_Silent_p.K435K|CEP57_ENST00000541150.1_Silent_p.K453K|CEP57_ENST00000325486.5_Silent_p.K436K	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	462	Mediates interaction with microtubules (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCACAAATAAGAAAGATTTTA	0.363									Mosaic Variegated Aneuploidy Syndrome				9	60					0	0	0	0	A	95564303	G	A	95564303	2	1	77	1	0	0	0	0	0	0	0	1	3285	933	33	2		2	CEP57	11	95564303	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	3477743	95564303	39442213	270	14742											
CNTN5	53942	broad.mit.edu	37	chr11	100211321	100211321	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcacttcacagtgagggctTacaatggagctggatatggg	11	10	13	7	0	2	1	2	1	0	0	2	3	2	3	0	4	2	2	0	4	3	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:100211321T>C	ENST00000524871.1	+	22	3147	c.2857T>C	c.(2857-2859)Tac>Cac	p.Y953H	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.Y879H|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y953H|CNTN5_ENST00000279463.3_Missense_Mutation_p.Y953H	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	953	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTGAGGGCTTACAATGGAGC	0.448													9	26					0	0	0	0	C	100211321	T	C	100211321	3	2	77	1	0	0	0	0	1	0	0	0	3674	1754	61	5	2935	5	CNTN5	11	100211321	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	4647018	100211321	34795195	271	14743											
KIAA1377	57562	broad.mit.edu	37	chr11	101863550	101863550	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaacccatccatcaaaaatActttacaaataataccactt	20	10	0	11	0	1	0	1	0	0	0	2	0	2	0	3	0	4	0	3	0	9	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:101863550A>G	ENST00000263468.8	+	10	3556	c.3286A>G	c.(3286-3288)Act>Gct	p.T1096A	KIAA1377_ENST00000537689.1_Missense_Mutation_p.T897A	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1096							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CATCAAAAATACTTTACAAAT	0.259													6	27					0	0	0	0	G	101863550	A	G	101863550	3	3	77	1	0	0	0	0	1	0	0	0	8278	391	14	5	3324	5	KIAA1377	11	101863550	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	1652229	101863550	33142966	272	14744											
MMP1	4312	broad.mit.edu	37	chr11	102663349	102663349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agattacctttgaaaaaccgGacttcatctctgtcggcaaa	13	11	7	10	2	2	2	1	1	1	1	4	3	2	3	2	2	2	1	2	2	4	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:102663349G>A	ENST00000315274.6	-	7	1087	c.1020C>T	c.(1018-1020)gtC>gtT	p.V340V	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	340	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TGAAAAACCGGACTTCATCTC	0.388													30	156					0	0	0	0	A	102663349	G	A	102663349	2	1	77	1	0	0	0	0	0	0	0	1	9717	1161	41	2		2	MMP1	11	102663349	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	799799	102663349	32343167	273	14745											
CADM1	23705	broad.mit.edu	37	chr11	115047259	115047259	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcattgattatagctgTgtctgcgtctgctgcgtcat	5	17	10	9	2	4	1	1	1	3	0	4	1	4	1	0	0	5	3	0	0	2	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:115047259T>C	ENST00000542447.2	-	9	1308	c.1180A>G	c.(1180-1182)Aca>Gca	p.T394A	CADM1_ENST00000331581.6_Missense_Mutation_p.T451A|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000537058.1_Missense_Mutation_p.T433A|CADM1_ENST00000452722.2_Missense_Mutation_p.T422A|CADM1_ENST00000536727.1_Missense_Mutation_p.T423A	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	422					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ATTATAGCTGTGTCTGCGTCT	0.463													61	145					0	0	0	0	C	115047259	T	C	115047259	3	2	77	1	0	0	0	0	1	0	0	0	2591	1696	59	5	68	5	CADM1	11	115047259	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	12383910	115047259	19959257	274	14746											
ARHGEF12	23365	broad.mit.edu	37	chr11	120350888	120350888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacttgttacagtccacGgacttcaactgaatcttttg	10	14	7	10	1	2	1	1	1	1	0	3	2	3	2	1	1	4	2	1	1	4	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:120350888G>A	ENST00000397843.2	+	38	4152	c.3986G>A	c.(3985-3987)cGg>cAg	p.R1329Q	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R1310Q|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R1226Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1329					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TACAGTCCACGGACTTCAACT	0.448			T	MLL	AML								40	166					0	0	0	0	A	120350888	G	A	120350888	3	1	77	1	0	0	0	0	1	0	0	0	899	1116	39	1	4136	1	ARHGEF12	11	120350888	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	5303629	120350888	14655628	275	14747											
ROBO4	54538	broad.mit.edu	37	chr11	124761403	124761403	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgatgagggagccataaaaAgtgctggtgtctggaagcag	12	7	16	6	1	1	1	0	1	1	0	1	4	1	3	1	3	3	2	1	3	4	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:124761403A>G	ENST00000306534.3	-	12	2225	c.1740T>C	c.(1738-1740)acT>acC	p.T580T	ROBO4_ENST00000533054.1_Silent_p.T435T|RP11-664I21.6_ENST00000524433.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	580					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGCCATAAAAAGTGCTGGTGT	0.622													17	55					0	0	0	0	G	124761403	A	G	124761403	2	3	77	1	0	0	0	0	0	0	0	1	13601	59	3	5		5	ROBO4	11	124761403	Silent	SNP	A	TCGA-CN-5356-01A-01D-1434-08	4410515	124761403	10245113	276	14748											
CDON	50937	broad.mit.edu	37	chr11	125885306	125885306	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcattgtgaaaccaggtaCagttgggggctgggttccca	8	10	15	8	0	0	1	0	1	0	0	1	1	1	1	2	4	3	5	2	4	2	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:125885306C>G	ENST00000392693.3	-	7	1155	c.1028G>C	c.(1027-1029)tGt>tCt	p.C343S	CDON_ENST00000263577.7_Missense_Mutation_p.C343S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	343	Ig-like C2-type 4.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AAACCAGGTACAGTTGGGGGC	0.488													11	85					0	0	0	0	G	125885306	C	G	125885306	3	3	77	1	0	0	0	0	1	0	0	0	3199	478	17	4	2822	4	CDON	11	125885306	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	1123903	125885306	9121210	277	14749											
ST14	6768	broad.mit.edu	37	chr11	130060396	130060396	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggtgtggagctgatgcgcTtcaccacgcccggcttccct	4	9	13	15	4	1	1	1	1	0	0	2	2	2	2	3	3	2	3	3	3	0	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:130060396T>A	ENST00000278742.5	+	7	1100	c.682T>A	c.(682-684)Ttc>Atc	p.F228I		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	228	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCTGATGCGCTTCACCACGCC	0.697													9	67					0	0	0	0	A	130060396	T	A	130060396	3	1	77	1	0	0	0	0	1	0	0	0	15301	1609	56	5	708	5	ST14	11	130060396	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	4175090	130060396	4946120	278	14750											
RAPGEF3	10411	broad.mit.edu	37	chr12	48141546	48141546	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagcatggagccatacagGgccacccactggctgaccag	10	5	13	13	0	0	1	0	1	0	0	0	3	0	3	4	4	3	2	4	4	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:48141546G>T	ENST00000405493.2	-	14	1505	c.1296C>A	c.(1294-1296)gcC>gcA	p.A432A	RAPGEF3_ENST00000549151.1_Silent_p.A432A|RAPGEF3_ENST00000449771.2_Silent_p.A474A|RAPGEF3_ENST00000395358.3_Silent_p.A474A|RAPGEF3_ENST00000548919.1_Silent_p.A432A|RAPGEF3_ENST00000389212.3_Silent_p.A474A|RAPGEF3_ENST00000171000.4_Silent_p.A432A	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	432					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGCCATACAGGGCCACCCACT	0.657													7	45					2.74318e-10	3.1249e-10	1	0	T	48141546	G	T	48141546	2	4	77	1	0	0	0	0	0	0	0	1	13127	1219	43	4		4	RAPGEF3	12	48141546	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08		48141546	85710349	279	14751											
ANP32D	23519	broad.mit.edu	37	chr12	48866821	48866821	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaccttttcacttgcgaggTaaccaacctgaacaactact	13	10	6	12	1	1	2	1	1	0	1	1	3	1	2	3	1	6	1	3	1	5	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:48866821T>A	ENST00000266594.1	+	1	374	c.374T>A	c.(373-375)gTa>gAa	p.V125E		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	125										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						ACTTGCGAGGTAACCAACCTG	0.448													18	95					0	0	0	0	A	48866821	T	A	48866821	3	1	77	1	0	0	0	0	1	0	0	0	707	1638	57	5	376	5	ANP32D	12	48866821	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	725275	48866821	84985074	280	14752											
SLC4A8	9498	broad.mit.edu	37	chr12	51834519	51834519	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagaagctgtggtggatCagggtgggaccagtacaatt	12	9	15	5	0	1	2	1	1	0	1	1	4	1	4	1	4	2	2	1	4	4	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:51834519C>T	ENST00000453097.2	+	2	293	c.76C>T	c.(76-78)Cag>Tag	p.Q26*	SLC4A8_ENST00000535225.2_5'UTR|SLC4A8_ENST00000514353.3_5'UTR|SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.Q53*|SLC4A8_ENST00000394856.1_5'UTR	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	26					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGTGGTGGATCAGGGTGGGAC	0.428													22	83					0	0	0	0	T	51834519	C	T	51834519	4	4	77	1	0	0	0	0	0	1	0	0	14747	827	29	2	82	2	SLC4A8	12	51834519	Nonsense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2967698	51834519	82017376	281	14753											
MON2	23041	broad.mit.edu	37	chr12	62892803	62892803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgttgtttttgagaggatGgttgctgaagatgaacgaca	11	13	13	4	1	0	4	0	3	0	2	0	7	0	5	0	2	2	4	0	2	2	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:62892803G>T	ENST00000393630.3	+	5	931	c.540G>T	c.(538-540)atG>atT	p.M180I	MON2_ENST00000393632.2_Missense_Mutation_p.M180I|MON2_ENST00000552115.1_Missense_Mutation_p.M180I|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000546600.1_Missense_Mutation_p.M180I|MON2_ENST00000280379.6_Missense_Mutation_p.M180I|MON2_ENST00000393629.2_Missense_Mutation_p.M180I|MON2_ENST00000552738.1_Missense_Mutation_p.M180I	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	180					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTGAGAGGATGGTTGCTGAAG	0.378													102	297					6.84326e-50	9.23266e-50	1	0	T	62892803	G	T	62892803	3	4	77	1	0	0	0	0	1	0	0	0	9770	1348	47	4	558	4	MON2	12	62892803	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	11058284	62892803	70959092	282	14754											
C12orf66	144577	broad.mit.edu	37	chr12	64588097	64588097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttagcttttgctgtcaacGttttcatttctgaagcagtc	7	17	9	8	1	3	1	2	1	1	0	4	1	3	1	0	1	4	5	0	1	3	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:64588097G>A	ENST00000311915.8	-	3	890	c.863C>T	c.(862-864)aCg>aTg	p.T288M	C12orf66_ENST00000398055.3_Missense_Mutation_p.T288M|C12orf66_ENST00000544871.1_Missense_Mutation_p.T235M			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	288										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGCTGTCAACGTTTTCATTTC	0.393													49	161					0	0	0	0	A	64588097	G	A	64588097	3	1	77	1	0	0	0	0	1	0	0	0	1721	1145	40	1	478	1	C12orf66	12	64588097	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1695294	64588097	69263798	283	14755											
GRIP1	23426	broad.mit.edu	37	chr12	66788009	66788009	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagctaatccccctttaGtgaggcttgaaatgattata	11	15	7	8	0	1	3	1	3	0	0	2	3	2	3	2	1	1	2	2	1	5	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:66788009G>C	ENST00000359742.4	-	17	2348	c.2108C>G	c.(2107-2109)aCt>aGt	p.T703S	GRIP1_ENST00000286445.7_Missense_Mutation_p.T703S|GRIP1_ENST00000398016.3_Missense_Mutation_p.T651S			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	703	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCCCCCTTTAGTGAGGCTTGA	0.433													67	192					0	0	0	0	C	66788009	G	C	66788009	3	2	77	1	0	0	0	0	1	0	0	0	6837	1029	36	4	1314	4	GRIP1	12	66788009	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2199912	66788009	67063886	284	14756											
TRHDE	29953	broad.mit.edu	37	chr12	73056937	73056937	+	Nonsense_Mutation	SNP	G	G	T																															ggaaaatgctttaccaagacGagcttttccaatggttagga																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:73056937G>T	ENST00000261180.4	+	19	3133	c.3037G>T	c.(3037-3039)Gag>Tag	p.E1013*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1013					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E1013Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTACCAAGACGAGCTTTTCCA	0.393													21	65					4.4004e-07	4.81949e-07	1	0	T	73056937	G	T	73056937	4	4	77	1	0	0	0	0	0	1	0	0	16574	1059	37	3	3111	3	TRHDE	12	73056937	Nonsense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	6268928	73056937	60794958	285	14757	126	2									
TRHDE	29953	broad.mit.edu	37	chr12	73056946	73056946	+	Missense_Mutation	SNP	C	C	A																															tttaccaagacgagcttttcCaatggttaggaaaagctcta																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:73056946C>A	ENST00000261180.4	+	19	3142	c.3046C>A	c.(3046-3048)Caa>Aaa	p.Q1016K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1016					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CGAGCTTTTCCAATGGTTAGG	0.398													18	58					1.00905e-13	1.18581e-13	1	0	A	73056946	C	A	73056946	3	1	77	1	0	0	0	0	1	0	0	0	16574	595	21	4	3120	4	TRHDE	12	73056946	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	9	73056946	60794949	286	14758	126	2									
NAV3	89795	broad.mit.edu	37	chr12	78593221	78593221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaacattcgcaataatGacctagtcaaaattatagat	19	10	6	6	1	1	2	1	1	0	1	2	3	1	3	1	1	1	1	1	1	9	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:78593221G>T	ENST00000397909.2	+	37	6798	c.6625G>T	c.(6625-6627)Gac>Tac	p.D2209Y	NAV3_ENST00000536525.2_Missense_Mutation_p.D2187Y|NAV3_ENST00000228327.6_Missense_Mutation_p.D2187Y|NAV3_ENST00000541270.1_Missense_Mutation_p.D39Y|NAV3_ENST00000266692.7_Missense_Mutation_p.D2010Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2209						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCGCAATAATGACCTAGTCAA	0.368										HNSCC(70;0.22)			35	111					1.42033e-22	1.80058e-22	1	0	T	78593221	G	T	78593221	3	4	77	1	0	0	0	0	1	0	0	0	10255	1290	45	2	6701	2	NAV3	12	78593221	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	5536275	78593221	55258674	287	14759											
TMTC3	160418	broad.mit.edu	37	chr12	88589095	88589095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattagcaccacatgaagAatatattcagcgccatttga	14	10	8	9	1	1	3	1	2	0	1	1	3	1	3	2	1	2	2	2	1	5	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:88589095A>G	ENST00000266712.6	+	14	2634	c.2414A>G	c.(2413-2415)gAa>gGa	p.E805G		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	806						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCACATGAAGAATATATTCAG	0.348													57	125					0	0	0	0	G	88589095	A	G	88589095	3	3	77	1	0	0	0	0	1	0	0	0	16356	246	9	5	2464	5	TMTC3	12	88589095	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	9995874	88589095	45262800	288	14760											
ANKS1B	56899	broad.mit.edu	37	chr12	99194841	99194841	+	Silent	SNP	G	G	T																															tgctgccagtactgtaccggGgtagaggctgtggcttcatt																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:99194841G>T	ENST00000547776.2	-	20	3128	c.3129C>A	c.(3127-3129)acC>acA	p.T1043T	ANKS1B_ENST00000547010.1_Silent_p.T559T|ANKS1B_ENST00000332712.7_Silent_p.T233T|ANKS1B_ENST00000341752.7_Silent_p.T49T|ANKS1B_ENST00000550693.2_Silent_p.T233T|ANKS1B_ENST00000549558.2_Silent_p.T209T|ANKS1B_ENST00000333732.7_Silent_p.T73T|ANKS1B_ENST00000549493.2_Silent_p.T293T|ANKS1B_ENST00000549025.2_Silent_p.T141T|ANKS1B_ENST00000546568.1_Silent_p.T209T|ANKS1B_ENST00000329257.7_Silent_p.T1043T|ANKS1B_ENST00000546960.1_Silent_p.T269T|ANKS1B_ENST00000547446.1_Silent_p.T178T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1043						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACTGTACCGGGGTAGAGGCTG	0.458													7	14					1.76689e-08	1.95736e-08	1	0	T	99194841	G	T	99194841	2	4	77	1	0	0	0	0	0	0	0	1	688	1219	43	4		4	ANKS1B	12	99194841	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	10605746	99194841	34657054	289	14761	127	2									
ANKS1B	56899	broad.mit.edu	37	chr12	99194842	99194842	+	Missense_Mutation	SNP	G	G	T																															gctgccagtactgtaccgggGtagaggctgtggcttcattc																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:99194842G>T	ENST00000547776.2	-	20	3127	c.3128C>A	c.(3127-3129)aCc>aAc	p.T1043N	ANKS1B_ENST00000547010.1_Missense_Mutation_p.T559N|ANKS1B_ENST00000332712.7_Missense_Mutation_p.T233N|ANKS1B_ENST00000341752.7_Missense_Mutation_p.T49N|ANKS1B_ENST00000550693.2_Missense_Mutation_p.T233N|ANKS1B_ENST00000549558.2_Missense_Mutation_p.T209N|ANKS1B_ENST00000333732.7_Missense_Mutation_p.T73N|ANKS1B_ENST00000549493.2_Missense_Mutation_p.T293N|ANKS1B_ENST00000549025.2_Missense_Mutation_p.T141N|ANKS1B_ENST00000546568.1_Missense_Mutation_p.T209N|ANKS1B_ENST00000329257.7_Missense_Mutation_p.T1043N|ANKS1B_ENST00000546960.1_Missense_Mutation_p.T269N|ANKS1B_ENST00000547446.1_Missense_Mutation_p.T178N	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1043						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTGTACCGGGGTAGAGGCTGT	0.458													7	13					1.76689e-08	1.95736e-08	1	0	T	99194842	G	T	99194842	3	4	77	1	0	0	0	0	1	0	0	0	688	1261	44	4	761	4	ANKS1B	12	99194842	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1	99194842	34657053	290	14762	127	2									
MYBPC1	4604	broad.mit.edu	37	chr12	102043145	102043145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagcaacaaaggctgatgCtgcagaatattcagtaatga	15	8	12	6	0	1	3	1	2	0	1	1	4	1	4	0	2	4	5	0	2	5	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:102043145C>A	ENST00000549145.1	+	14	1368	c.1268C>A	c.(1267-1269)gCt>gAt	p.A423D	MYBPC1_ENST00000441232.1_Missense_Mutation_p.A410D|MYBPC1_ENST00000361466.2_Missense_Mutation_p.A435D|MYBPC1_ENST00000452455.2_Missense_Mutation_p.A410D|MYBPC1_ENST00000392934.3_Missense_Mutation_p.A397D|MYBPC1_ENST00000553190.1_Missense_Mutation_p.A410D|MYBPC1_ENST00000541119.1_Missense_Mutation_p.A398D|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Missense_Mutation_p.A384D|MYBPC1_ENST00000550270.1_Missense_Mutation_p.A410D|MYBPC1_ENST00000547509.1_Missense_Mutation_p.A396D|MYBPC1_ENST00000551300.1_Missense_Mutation_p.A311D|MYBPC1_ENST00000545503.2_Missense_Mutation_p.A410D|MYBPC1_ENST00000361685.2_Missense_Mutation_p.A435D|MYBPC1_ENST00000536007.1_Missense_Mutation_p.A391D|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000360610.2_Missense_Mutation_p.A410D			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	410	Ig-like C2-type 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						AAGGCTGATGCTGCAGAATAT	0.393													26	176					1.56442e-22	1.97805e-22	1	0	A	102043145	C	A	102043145	3	1	77	1	0	0	0	0	1	0	0	0	10081	797	28	4	1362	4	MYBPC1	12	102043145	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2848303	102043145	31808750	291	14763											
CUX2	23316	broad.mit.edu	37	chr12	111747976	111747976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagccccgggcagcccctgCtgggccccagcttggggcct	3	5	14	19	1	0	0	0	0	0	0	0	0	0	0	8	4	4	3	8	4	0	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:111747976C>A	ENST00000261726.6	+	15	1544	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	464	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCAGCCCCTGCTGGGCCCCAG	0.687													7	18					0.000274275	0.000287989	1	0	A	111747976	C	A	111747976	3	1	77	1	0	0	0	0	1	0	0	0	4097	796	28	4	1448	4	CUX2	12	111747976	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	9704831	111747976	22103919	292	14764											
TPCN1	53373	broad.mit.edu	37	chr12	113730845	113730845	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcggatgtcaccaggctGctggagaccctctcccagat	7	9	10	15	1	2	2	1	0	1	2	5	4	3	3	4	3	1	2	4	3	0	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:113730845G>T	ENST00000550785.1	+	27	2605	c.2436G>T	c.(2434-2436)ctG>ctT	p.L812L	TPCN1_ENST00000392569.4_Silent_p.L672L|TPCN1_ENST00000546787.1_3'UTR|TPCN1_ENST00000541517.1_Silent_p.L812L|TPCN1_ENST00000335509.6_Silent_p.L740L	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	740						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCACCAGGCTGCTGGAGACCC	0.612													12	40					5.50884e-06	5.93921e-06	1	0	T	113730845	G	T	113730845	2	4	77	1	0	0	0	0	0	0	0	1	16490	1306	46	4		4	TPCN1	12	113730845	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1982869	113730845	20121050	293	14765											
COX6A1	1337	broad.mit.edu	37	chr12	120876216	120876216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctcaccttcttcgtcgcGctccccggggtggcagtcag	4	10	11	16	4	3	0	2	0	2	0	7	0	4	0	3	3	0	2	3	3	0	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:120876216G>T	ENST00000551806.1	+	2	67	c.67G>T	c.(67-69)Gct>Tct	p.A23S	COX6A1_ENST00000229379.2_Silent_p.A46A																							TCTTCGTCGCGCTCCCCGGGG	0.627													38	100					2.75727e-19	3.41478e-19	1	0	T	120876216	G	T	120876216	3	4	77	1	0	0	0	0	1	0	0	0	3804	1074	38	3	144	3	COX6A1	12	120876216	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	7145371	120876216	12975679	294	14766											
TMEM132D	121256	broad.mit.edu	37	chr12	130184858	130184858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgctgcggtcgtcccaGtctctgcccatgatgtggaa	5	9	13	14	4	1	1	0	1	1	0	4	2	2	2	3	3	2	1	3	3	1	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:130184858G>T	ENST00000422113.2	-	2	791	c.465C>A	c.(463-465)gaC>gaA	p.D155E		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	155						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTCGTCCCAGTCTCTGCCCA	0.602													15	28					1.05317e-09	1.19129e-09	1	0	T	130184858	G	T	130184858	3	4	77	1	0	0	0	0	1	0	0	0	16141	1020	36	4	2866	4	TMEM132D	12	130184858	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	9308642	130184858	3667037	295	14767											
PXMP2	5827	broad.mit.edu	37	chr12	133266848	133266848	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacctccctctccacaGtggcattttgtcagcacttg	7	13	8	13	0	2	2	1	2	1	0	4	2	3	2	3	1	1	2	3	1	0	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:133266848G>A	ENST00000545677.1	+	2	102		c.e2-1		PXMP2_ENST00000317479.3_Splice_Site|PXMP2_ENST00000543589.1_Splice_Site|PXMP2_ENST00000539093.1_5'UTR|RP13-672B3.2_ENST00000537262.1_Splice_Site			Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa							integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CCTCTCCACAGTGGCATTTTG	0.517													38	113					0	0	0	0	A	133266848	G	A	133266848	5	1	77	1	0	0	0	0	0	0	1	0	12932	1043	36	4	128	4	PXMP2	12	133266848	Splice_Site	SNP	G	TCGA-CN-5356-01A-01D-1434-08	3081990	133266848	585047	296	14768											
ATP12A	479	broad.mit.edu	37	chr13	25265203	25265203	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcaggagttggaaatGagaagacgcccattgccatt	11	9	12	9	1	1	2	1	1	0	2	1	5	1	4	3	3	1	1	3	3	2	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr13:25265203G>T	ENST00000218548.6	+	8	1234	c.901G>T	c.(901-903)Gag>Tag	p.E301*	ATP12A_ENST00000381946.3_Nonsense_Mutation_p.E295*	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	295					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AGTTGGAAATGAGAAGACGCC	0.517													36	76					2.75727e-19	3.41478e-19	1	0	T	25265203	G	T	25265203	4	4	77	1	0	0	0	0	0	1	0	0	1126	1291	45	2	931	2	ATP12A	13	25265203	Nonsense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08		25265203	89904675	297	14769											
CCNA1	8900	broad.mit.edu	37	chr13	37015288	37015288	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgagtctacttgaagcagatCcattcttgaaatatcttcct	11	15	6	9	0	3	4	0	3	3	1	5	4	5	4	2	0	2	1	2	0	4	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr13:37015288C>G	ENST00000418263.1	+	7	1479	c.1129C>G	c.(1129-1131)Cca>Gca	p.P377A	CCNA1_ENST00000449823.1_Missense_Mutation_p.P334A|CCNA1_ENST00000440264.1_Missense_Mutation_p.P334A|CCNA1_ENST00000255465.4_Missense_Mutation_p.P378A	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	378					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGAAGCAGATCCATTCTTGAA	0.398													41	70					0	0	0	0	G	37015288	C	G	37015288	3	3	77	1	0	0	0	0	1	0	0	0	2938	855	30	2	1158	2	CCNA1	13	37015288	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	11750085	37015288	78154590	298	14770											
ZIC2	7546	broad.mit.edu	37	chr13	100637292	100637292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatgcacgtccacacctccGataagccctatctctgcaag	11	8	6	16	2	1	0	0	0	1	0	4	1	3	0	4	0	3	2	4	0	3	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr13:100637292G>A	ENST00000376335.3	+	2	1461	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	390					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D390Y(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACACCTCCGATAAGCCCTA	0.627													47	48					0	0	0	0	A	100637292	G	A	100637292	3	1	77	1	0	0	0	0	1	0	0	0	17774	1058	37	1	1174	1	ZIC2	13	100637292	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	63622004	100637292	14532586	299	14771											
OR11H12	440153	broad.mit.edu	37	chr14	19377681	19377681	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaatgaatttatactcCaaggtttcacttgtgagtgg	11	16	9	5	0	1	2	1	2	0	0	2	2	2	2	1	2	1	2	1	2	6	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:19377681C>A	ENST00000550708.1	+	1	160	c.88C>A	c.(88-90)Caa>Aaa	p.Q30K		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTATACTCCAAGGTTTCAC	0.413													70	187					7.07328e-35	9.28369e-35	1	0	A	19377681	C	A	19377681	3	1	77	1	0	0	0	0	1	0	0	0	10998	595	21	4	90	4	OR11H12	14	19377681	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08		19377681	87971859	300	14772											
POTEG	404785	broad.mit.edu	37	chr14	19553736	19553736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggtgctgccactgcttccCctgctgcagggggagcggca	4	8	16	13	1	0	0	0	0	0	0	1	1	1	1	3	4	6	5	3	4	0	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:19553736C>A	ENST00000409832.3	+	1	372	c.320C>A	c.(319-321)cCc>cAc	p.P107H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	107										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACTGCTTCCCCTGCTGCAGG	0.602													27	710					3.03874e-20	3.81224e-20	1	0	A	19553736	C	A	19553736	3	1	77	1	0	0	0	0	1	0	0	0	12338	623	22	4	322	4	POTEG	14	19553736	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	176055	19553736	87795804	301	14773											
OR4L1	122742	broad.mit.edu	37	chr14	20528872	20528872	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttacattgtcatcctggtCagtgtaccaaaaaaatcatc	13	13	5	10	0	4	0	3	0	1	0	6	0	5	0	2	1	2	1	2	1	5	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:20528872C>A	ENST00000315683.1	+	1	669	c.669C>A	c.(667-669)gtC>gtA	p.V223V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCATCCTGGTCAGTGTACCAA	0.438													58	180					2.41709e-19	3.0089e-19	1	0	A	20528872	C	A	20528872	2	1	77	1	0	0	0	0	0	0	0	1	11145	813	29	2		2	OR4L1	14	20528872	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	975136	20528872	86820668	302	14774											
CHD8	57680	broad.mit.edu	37	chr14	21863125	21863125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgaaggctgcttcacaaCgccgccttcgccggtcccca	6	8	10	17	4	1	1	1	1	0	0	3	1	2	1	5	2	2	3	5	2	2	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:21863125C>A	ENST00000399982.2	-	29	5400	c.5336G>T	c.(5335-5337)cGt>cTt	p.R1779L	CHD8_ENST00000430710.3_Missense_Mutation_p.R1500L|CHD8_ENST00000557364.1_Missense_Mutation_p.R1779L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1779					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGCTTCACAACGCCGCCTTCG	0.498													30	55					3.99451e-17	4.82337e-17	1	0	A	21863125	C	A	21863125	3	1	77	1	0	0	0	0	1	0	0	0	3360	536	19	3	2445	3	CHD8	14	21863125	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	1334253	21863125	85486415	303	14775											
MIPOL1	145282	broad.mit.edu	37	chr14	37777652	37777652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatagaatctacaagaccaaGgaatgtaaaatgagaataac	21	7	8	5	0	1	3	0	1	1	3	1	6	1	4	1	1	2	1	1	1	10	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:37777652G>A	ENST00000327441.7	+	10	1222	c.756G>A	c.(754-756)aaG>aaA	p.K252K	MIPOL1_ENST00000537471.1_Silent_p.K252K|MIPOL1_ENST00000556451.1_Silent_p.K221K|MIPOL1_ENST00000545536.1_Silent_p.K221K|MIPOL1_ENST00000536774.1_Silent_p.K71K|MIPOL1_ENST00000539062.2_Silent_p.K221K|MIPOL1_ENST00000396294.2_Silent_p.K252K	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	252										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ACAAGACCAAGGAATGTAAAA	0.368													46	138					0	0	0	0	A	37777652	G	A	37777652	2	1	77	1	0	0	0	0	0	0	0	1	9662	991	35	4		4	MIPOL1	14	37777652	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	15914527	37777652	69571888	304	14776											
KTN1	3895	broad.mit.edu	37	chr14	56114744	56114744	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaatttataatttcagcAttcaagaaaaagatgagaag	20	11	6	4	0	2	3	2	1	0	3	2	4	2	3	0	0	2	1	0	0	8	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:56114744A>C	ENST00000416613.1	+	19	2281	c.2207_splice	c.e19-1	p.I737_splice	KTN1_ENST00000554507.1_Splice_Site_p.I32_splice|KTN1_ENST00000413890.2_Splice_Site_p.I737_splice|KTN1_ENST00000395314.3_Splice_Site_p.I737_splice|KTN1_ENST00000395311.1_Splice_Site_p.I737_splice|KTN1_ENST00000395309.3_Splice_Site_p.I737_splice|KTN1_ENST00000395308.1_Splice_Site_p.I737_splice|KTN1_ENST00000438792.2_Splice_Site_p.I737_splice			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	737					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TAATTTCAGCATTCAAGAAAA	0.279			T	RET	papillary thryoid								10	63					0	0	0	0	C	56114744	A	C	56114744	5	2	77	1	0	0	0	0	0	0	1	0	8638	231	8	5	2283	5	KTN1	14	56114744	Splice_Site	SNP	A	TCGA-CN-5356-01A-01D-1434-08	18337092	56114744	51234796	305	14777											
SYNE2	23224	broad.mit.edu	37	chr14	64630120	64630120	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catccctttttcttctgcagGagctgcagcatgatgtgcag	7	13	10	11	0	2	1	0	1	2	0	3	2	3	2	1	1	5	5	1	1	0	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:64630120G>C	ENST00000357395.3	+	90	16599	c.5454_splice	c.e90-1	p.E1819_splice	SYNE2_ENST00000394768.2_Splice_Site_p.E1819_splice|SYNE2_ENST00000358025.3_Splice_Site_p.E5434_splice|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Splice_Site_p.E2068_splice|SYNE2_ENST00000344113.4_Splice_Site_p.E5434_splice|SYNE2_ENST00000554584.1_Splice_Site_p.E5351_splice			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5434					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.E5434Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTTCTGCAGGAGCTGCAGCA	0.493													25	86					0	0	0	0	C	64630120	G	C	64630120	5	2	77	1	0	0	0	0	0	0	1	0	15537	1188	41	2	16650	2	SYNE2	14	64630120	Splice_Site	SNP	G	TCGA-CN-5356-01A-01D-1434-08	8515376	64630120	42719420	306	14778											
C14orf166B	145497	broad.mit.edu	37	chr14	77327047	77327047	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcacagaacgtgctggtGtccgagcagttcatgaaaac	11	9	11	10	2	2	2	2	1	0	1	3	3	3	2	1	1	4	3	1	1	3	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:77327047G>T	ENST00000393774.3	+	11	1240	c.1116G>T	c.(1114-1116)gtG>gtT	p.V372V		NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	372										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		ACGTGCTGGTGTCCGAGCAGT	0.577													16	73					1.02788e-11	1.19057e-11	1	0	T	77327047	G	T	77327047	2	4	77	1	0	0	0	0	0	0	0	1	1769	1364	48	4		4	C14orf166B	14	77327047	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	12696927	77327047	30022493	307	14779											
PRIMA1	145270	broad.mit.edu	37	chr14	94187810	94187810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaccactgcgttgttcaCgtctactcctttgttgctct	5	16	6	14	2	4	0	2	0	2	0	5	0	5	0	2	0	3	4	2	0	1	5	rs140016687		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:94187810C>T	ENST00000393140.1	-	5	544	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	PRIMA1_ENST00000393143.1_Missense_Mutation_p.V148M|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	148					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GCGTTGTTCACGTCTACTCCT	0.572													13	55					0	0	0	0	T	94187810	C	T	94187810	3	4	77	1	0	0	0	0	1	0	0	0	12572	536	19	1	23	1	PRIMA1	14	94187810	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	16860763	94187810	13161730	308	14780											
SERPINA4	5267	broad.mit.edu	37	chr14	95033433	95033433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactggtatcttcatgacaGatacttgccctgctcggtgc	7	13	9	12	1	3	2	2	1	1	1	4	2	3	2	1	2	4	2	1	2	2	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:95033433G>A	ENST00000557004.1	+	3	1197	c.776G>A	c.(775-777)aGa>aAa	p.R259K	SERPINA4_ENST00000555095.1_Missense_Mutation_p.R259K|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R259K|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	259					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTTCATGACAGATACTTGCCC	0.488													30	74					0	0	0	0	A	95033433	G	A	95033433	3	1	77	1	0	0	0	0	1	0	0	0	14178	942	33	2	782	2	SERPINA4	14	95033433	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	845623	95033433	12316107	309	14781											
MKRN3	7681	broad.mit.edu	37	chr15	23811560	23811560	+	Missense_Mutation	SNP	C	C	A																															ttgagtttgttccagggcagCcctaccggggccgctgggtt																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:23811560C>A	ENST00000314520.3	+	1	1107	c.631C>A	c.(631-633)Ccc>Acc	p.P211T	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	211						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCCAGGGCAGCCCTACCGGGG	0.597													12	46					6.40141e-05	6.78044e-05	1	0	A	23811560	C	A	23811560	3	1	77	1	0	0	0	0	1	0	0	0	9677	739	26	4	633	4	MKRN3	15	23811560	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08		23811560	78719832	310	14782	128	2									
MKRN3	7681	broad.mit.edu	37	chr15	23811561	23811561	+	Missense_Mutation	SNP	C	C	A																															tgagtttgttccagggcagcCctaccggggccgctgggttg																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:23811561C>A	ENST00000314520.3	+	1	1108	c.632C>A	c.(631-633)cCc>cAc	p.P211H	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	211						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CCAGGGCAGCCCTACCGGGGC	0.597													12	45					6.40141e-05	6.78044e-05	1	0	A	23811561	C	A	23811561	3	1	77	1	0	0	0	0	1	0	0	0	9677	623	22	4	634	4	MKRN3	15	23811561	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	1	23811561	78719831	311	14783	128	2									
GABRB3	2562	broad.mit.edu	37	chr15	26806266	26806266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttgacataggggattttgGgcaaggtctcccgaaggtgg	8	11	15	7	1	1	1	0	1	1	0	2	3	1	2	1	6	0	1	1	6	3	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:26806266G>T	ENST00000541819.2	-	9	1163	c.1061C>A	c.(1060-1062)cCc>cAc	p.P354H	GABRB3_ENST00000311550.5_Missense_Mutation_p.P298H|GABRB3_ENST00000400188.3_Missense_Mutation_p.P227H|GABRB3_ENST00000545868.1_Missense_Mutation_p.P213H|GABRB3_ENST00000299267.4_Missense_Mutation_p.P298H			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	298					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	GGGGATTTTGGGCAAGGTCTC	0.468													34	125					2.42023e-17	2.93712e-17	1	0	T	26806266	G	T	26806266	3	4	77	1	0	0	0	0	1	0	0	0	6216	1232	43	4	536	4	GABRB3	15	26806266	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2994705	26806266	75725126	312	14784											
FSIP1	161835	broad.mit.edu	37	chr15	39909940	39909940	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcgccaagcctcacctgcTattgtattctctggagaact	8	13	8	12	1	2	1	1	0	1	1	4	2	2	1	3	1	3	3	3	1	4	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:39909940T>C	ENST00000350221.3	-	11	1904	c.1695A>G	c.(1693-1695)atA>atG	p.I565M		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	565										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CCTCACCTGCTATTGTATTCT	0.388													60	143					0	0	0	0	C	39909940	T	C	39909940	3	2	77	1	0	0	0	0	1	0	0	0	6122	1512	53	5	58	5	FSIP1	15	39909940	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	13103674	39909940	62621452	313	14785											
CATSPER2	117155	broad.mit.edu	37	chr15	43927951	43927951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatctgccgcttgaacatGtcagctttgagctgaacctc	9	12	9	11	1	2	4	1	4	1	0	3	4	2	4	2	0	5	3	2	0	2	2	rs144799666		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:43927951G>A	ENST00000396879.1	-	10	1207	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Silent_p.D365D|CATSPER2_ENST00000321596.5_Silent_p.D365D|CATSPER2_ENST00000381761.1_Silent_p.D371D|CATSPER2_ENST00000354127.4_Silent_p.D365D			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	365					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTTGAACATGTCAGCTTTGA	0.488													21	45					0	0	0	0	A	43927951	G	A	43927951	2	1	77	1	0	0	0	0	0	0	0	1	2713	1368	48	4		4	CATSPER2	15	43927951	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	4018011	43927951	58603441	314	14786											
SPG11	80208	broad.mit.edu	37	chr15	44941067	44941067	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatttaattctgttacctcTagtgcatgtatgggaattga	10	16	9	6	0	2	1	0	1	2	0	2	2	2	2	1	1	2	4	1	1	5	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:44941067T>A	ENST00000261866.7	-	7	1615	c.1599A>T	c.(1597-1599)ctA>ctT	p.L533L	SPG11_ENST00000558319.1_Silent_p.L533L|SPG11_ENST00000427534.2_Silent_p.L533L|SPG11_ENST00000535302.2_Silent_p.L533L|SPG11_ENST00000559193.1_Silent_p.L533L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	533					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTGTTACCTCTAGTGCATGTA	0.363													47	108					0	0	0	0	A	44941067	T	A	44941067	2	1	77	1	0	0	0	0	0	0	0	1	15131	1509	53	5		5	SPG11	15	44941067	Silent	SNP	T	TCGA-CN-5356-01A-01D-1434-08	1013116	44941067	57590325	315	14787											
SLC28A2	9153	broad.mit.edu	37	chr15	45557355	45557355	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggtcaaggatgtcttTgcttttcaggtgatacctat	9	15	9	8	0	3	1	2	1	1	0	3	2	3	2	1	3	2	1	1	3	3	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:45557355T>A	ENST00000347644.3	+	8	836	c.771T>A	c.(769-771)ttT>ttA	p.F257L	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	257					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGGATGTCTTTGCTTTTCAGG	0.438													9	246					0	0	0	0	A	45557355	T	A	45557355	3	1	77	1	0	0	0	0	1	0	0	0	14620	1809	63	5	797	5	SLC28A2	15	45557355	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	616288	45557355	56974037	316	14788											
ALDH1A2	8854	broad.mit.edu	37	chr15	58302916	58302916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgaaaggttttgatgacgcCctgcaaatccacataaaaag	15	9	8	9	2	0	2	0	2	0	0	2	3	1	2	2	1	1	2	2	1	5	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:58302916C>T	ENST00000249750.4	-	4	1191	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	ALDH1A2_ENST00000558231.1_Missense_Mutation_p.G113S|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.G121S|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.G142S|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.G46S	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	142					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTGATGACGCCCTGCAAATCC	0.433													36	95					0	0	0	0	T	58302916	C	T	58302916	3	4	77	1	0	0	0	0	1	0	0	0	491	623	22	4	1172	4	ALDH1A2	15	58302916	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	12745561	58302916	44228476	317	14789											
WDR73	84942	broad.mit.edu	37	chr15	85197483	85197483	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagcgcaaggattccaccAgccagtcgtccccaggatcc	11	5	9	16	2	0	0	0	0	0	0	4	2	3	2	6	2	2	1	6	2	2	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:85197483A>T	ENST00000434634.2	-	1	83	c.23T>A	c.(22-24)cTg>cAg	p.L8Q	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	8										cervix(1)|large_intestine(1)|lung(1)	3						GGATTCCACCAGCCAGTCGTC	0.677													34	136					0	0	0	0	T	85197483	A	T	85197483	3	4	77	1	0	0	0	0	1	0	0	0	17419	188	7	5	1145	5	WDR73	15	85197483	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	26894567	85197483	17333909	318	14790											
NTRK3	4916	broad.mit.edu	37	chr15	88472661	88472661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcattgcatctggcccatGggccctgcaagagcatgggg	8	8	14	11	0	2	1	1	0	1	1	2	2	2	1	2	4	3	3	2	4	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:88472661G>A	ENST00000394480.1	-	17	2215	c.1894C>T	c.(1894-1896)Cat>Tat	p.H632Y	NTRK3_ENST00000542733.2_Missense_Mutation_p.H534Y|NTRK3_ENST00000360948.2_Missense_Mutation_p.H632Y|NTRK3_ENST00000357724.2_Missense_Mutation_p.H624Y|NTRK3_ENST00000355254.2_Missense_Mutation_p.H632Y|NTRK3_ENST00000557856.1_Missense_Mutation_p.H624Y|NTRK3_ENST00000558676.1_Missense_Mutation_p.H624Y	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	632	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTGGCCCATGGGCCCTGCAA	0.597			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			10	34					0	0	0	0	A	88472661	G	A	88472661	3	1	77	1	0	0	0	0	1	0	0	0	10779	1348	47	4	641	4	NTRK3	15	88472661	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	3275178	88472661	14058731	319	14791											
HBA2	3040	broad.mit.edu	37	chr16	223546	223546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcggtgcacgcctccCtggacaagttcctggcttct	4	10	10	17	2	1	0	0	0	1	0	3	1	3	1	5	3	2	3	5	3	1	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:223546C>A	ENST00000251595.6	+	3	442	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	HBA2_ENST00000397806.1_Missense_Mutation_p.L94M	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	126			L -> P (in Quong Sze; causes alpha- thalassemia).|L -> R (in Plasencia; family with moderate microcytosis and hypochromia).		hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	GCACGCCTCCCTGGACAAGTT	0.652											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	25					3.8784e-16	4.67149e-16	1	0	A	223546	C	A	223546	3	1	77	1	0	0	0	0	1	0	0	0	7027	680	24	4	386	4	HBA2	16	223546	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08		223546	90131207	320	14792											
UBE2I	7329	broad.mit.edu	37	chr16	1374785	1374785	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaagccaagaagtttgcGccctcataagcagcgacctt	12	7	9	13	2	1	1	1	0	0	1	1	2	1	1	3	0	4	3	3	0	4	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:1374785G>T	ENST00000355803.4	+	7	1019	c.468G>T	c.(466-468)gcG>gcT	p.A156A	UBE2I_ENST00000397514.3_Silent_p.A156A|UBE2I_ENST00000566587.1_Silent_p.A156A|UBE2I_ENST00000406620.1_Silent_p.A156A|UBE2I_ENST00000403747.2_Silent_p.A156A|UBE2I_ENST00000397515.2_Silent_p.A156A|UBE2I_ENST00000325437.5_Silent_p.A156A	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	156					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				AGAAGTTTGCGCCCTCATAAG	0.473													14	55					2.4624e-09	2.77235e-09	1	0	T	1374785	G	T	1374785	2	4	77	1	0	0	0	0	0	0	0	1	16955	1074	38	3		3	UBE2I	16	1374785	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1151239	1374785	88979968	321	14793											
ZNF597	146434	broad.mit.edu	37	chr16	3487033	3487033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggatagatgagagtgctgGcgaaagctggcactgcactt	10	8	15	8	2	0	2	0	1	0	2	0	5	0	3	0	3	3	4	0	3	2	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:3487033G>A	ENST00000301744.4	-	4	901	c.666C>T	c.(664-666)cgC>cgT	p.R222R	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GAGAGTGCTGGCGAAAGCTGG	0.473													80	194					0	0	0	0	A	3487033	G	A	3487033	2	1	77	1	0	0	0	0	0	0	0	1	18122	1190	42	4		4	ZNF597	16	3487033	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2112248	3487033	86867720	322	14794											
TFAP4	7023	broad.mit.edu	37	chr16	4310219	4310219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcacgatcaccgtggggtGgtgggtgggggccggagggg	4	6	24	7	3	1	0	1	0	0	0	1	2	1	1	2	10	0	1	2	10	0	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:4310219G>A	ENST00000204517.6	-	6	1022	c.694C>T	c.(694-696)Cac>Tac	p.H232Y		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	232	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						ACCGTGGGGTGGTGGGTGGGG	0.617													26	39					0	0	0	0	A	4310219	G	A	4310219	3	1	77	1	0	0	0	0	1	0	0	0	15886	1348	47	4	330	4	TFAP4	16	4310219	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	823186	4310219	86044534	323	14795											
GRIN2A	2903	broad.mit.edu	37	chr16	9892263	9892263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcaccagcttgcagccttCatccctcccagccttgtaat	7	11	7	16	0	2	0	2	0	0	0	4	0	4	0	5	1	4	3	5	1	1	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:9892263C>G	ENST00000396573.2	-	12	2536	c.2227G>C	c.(2227-2229)Gaa>Caa	p.E743Q	GRIN2A_ENST00000535259.1_Missense_Mutation_p.E586Q|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E743Q|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E743Q|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E743Q|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E743Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	743					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGCAGCCTTCATCCCTCCCA	0.537													23	87					0	0	0	0	G	9892263	C	G	9892263	3	3	77	1	0	0	0	0	1	0	0	0	6829	835	29	2	2179	2	GRIN2A	16	9892263	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	5582044	9892263	80462490	324	14796											
ACSM1	116285	broad.mit.edu	37	chr16	20682863	20682863	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttcctaccttcctgggaAggagggttgtaaggccaacc	8	11	11	11	0	1	0	0	0	1	0	3	2	3	2	5	4	2	2	5	4	4	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:20682863A>G	ENST00000307493.4	-	4	809	c.742T>C	c.(742-744)Ttc>Ctc	p.F248L	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.F248L	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	248					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTTCCTGGGAAGGAGGGTTGT	0.532													36	76					0	0	0	0	G	20682863	A	G	20682863	3	3	77	1	0	0	0	0	1	0	0	0	182	72	3	5	1031	5	ACSM1	16	20682863	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	10790600	20682863	69671890	325	14797											
EEF2K	29904	broad.mit.edu	37	chr16	22271842	22271842	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccatgatcatctagacAaccaccgggtgagtgtgaag	13	7	12	9	1	2	5	1	3	1	2	2	6	2	5	3	1	1	0	3	1	3	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:22271842A>T	ENST00000263026.5	+	11	1765	c.1291A>T	c.(1291-1293)Aac>Tac	p.N431Y		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	431					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCATCTAGACAACCACCGGGT	0.547													55	193					0	0	0	0	T	22271842	A	T	22271842	3	4	77	1	0	0	0	0	1	0	0	0	4966	130	5	5	1329	5	EEF2K	16	22271842	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	1588979	22271842	68082911	326	14798											
ITGAX	3687	broad.mit.edu	37	chr16	31373420	31373420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccccgttctgggggctgtgGggagcttcacctggtctgga	3	10	17	11	1	3	0	1	0	2	0	3	2	3	2	3	6	1	3	3	6	0	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:31373420G>A	ENST00000268296.4	+	11	1232	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	ITGAX_ENST00000562522.1_Missense_Mutation_p.G371R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	371					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGGGGCTGTGGGGAGCTTCAC	0.567													82	252					0	0	0	0	A	31373420	G	A	31373420	3	1	77	1	0	0	0	0	1	0	0	0	7942	1232	43	4	1153	4	ITGAX	16	31373420	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	9101578	31373420	58981333	327	14799											
TSR1	55720	broad.mit.edu	37	chr17	2238908	2238908	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtgtactgttccagtgtcCctatcttgaagcagctgcat	9	13	9	10	0	1	1	0	1	1	0	3	1	3	1	2	0	4	5	2	0	4	4	rs139241652		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:2238908C>T	ENST00000301364.4	-	3	1397	c.318G>A	c.(316-318)agG>agA	p.R106R		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	106					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TTCCAGTGTCCCTATCTTGAA	0.542													4	153					0	0	0	0	T	2238908	C	T	2238908	2	4	77	1	0	0	0	0	0	0	0	1	16759	622	22	4		4	TSR1	17	2238908	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08		2238908	78956302	328	14800											
OR1D2	4991	broad.mit.edu	37	chr17	2995854	2995854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggataggacccaacacaagGaaaggagtaagatacagagc	18	3	12	8	1	0	2	0	0	0	2	0	6	0	6	1	4	3	1	1	4	6	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:2995854G>A	ENST00000331459.1	-	1	436	c.437C>T	c.(436-438)tCc>tTc	p.S146F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	146					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CCAACACAAGGAAAGGAGTAA	0.522													38	50					0	0	0	0	A	2995854	G	A	2995854	3	1	77	1	0	0	0	0	1	0	0	0	11024	1174	41	2	504	2	OR1D2	17	2995854	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	756946	2995854	78199356	329	14801											
ATP2A3	489	broad.mit.edu	37	chr17	3844430	3844430	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgcccgccacgtcttcCgtgtccccaaagatgccaag	7	8	9	17	3	1	1	0	0	1	1	3	1	3	1	7	0	2	0	7	0	2	2	rs139395876		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:3844430C>T	ENST00000309890.7	-	14	2085	c.1935G>A	c.(1933-1935)acG>acA	p.T645T	ATP2A3_ENST00000352011.3_Silent_p.T645T|ATP2A3_ENST00000359983.3_Silent_p.T645T|ATP2A3_ENST00000397041.3_Silent_p.T645T|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.T645T|ATP2A3_ENST00000397035.3_Silent_p.T645T	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	645					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCACGTCTTCCGTGTCCCCAA	0.682													14	86					0	0	0	0	T	3844430	C	T	3844430	2	4	77	1	0	0	0	0	0	0	0	1	1142	639	23	1		1	ATP2A3	17	3844430	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	848576	3844430	77350780	330	14802											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	36					0	0	0	0	T	7577120	C	T	7577120	3	4	77	1	0	0	0	0	1	0	0	0	16476	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	3732690	7577120	73618090	331	14803											
MYH2	4620	broad.mit.edu	37	chr17	10429179	10429179	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagctgcctgcagccgcTgggccagcttcttccttgaa	5	10	10	16	1	2	1	1	1	1	0	3	1	3	1	5	1	5	4	5	1	1	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:10429179T>A	ENST00000245503.5	-	31	4586	c.4202A>T	c.(4201-4203)cAg>cTg	p.Q1401L	MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.Q1401L|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1401					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGCAGCCGCTGGGCCAGCTT	0.473													14	70					0	0	0	0	A	10429179	T	A	10429179	3	1	77	1	0	0	0	0	1	0	0	0	10105	1580	55	5	1663	5	MYH2	17	10429179	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	2852059	10429179	70766031	332	14804											
DNAH9	1770	broad.mit.edu	37	chr17	11515024	11515024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaataacggtgaggggcatGgccaagctcctggacaagct	12	6	13	10	1	0	1	0	1	0	0	1	2	1	2	2	5	3	3	2	5	4	1	rs141141277		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:11515024G>T	ENST00000262442.3	+	4	899	c.831G>T	c.(829-831)atG>atT	p.M277I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M277I|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000579828.1_Missense_Mutation_p.M277I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	277	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAGGGGCATGGCCAAGCTCC	0.443													87	66					1.72036e-36	2.27654e-36	1	0	T	11515024	G	T	11515024	3	4	77	1	0	0	0	0	1	0	0	0	4644	1348	47	4	845	4	DNAH9	17	11515024	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1085845	11515024	69680186	333	14805											
MAP2K3	5606	broad.mit.edu	37	chr17	21207776	21207776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttatcaacaaggagggcCatgtgaagatgtgtgacttt	11	12	11	7	0	1	3	1	2	0	1	2	4	2	4	2	2	1	0	2	2	4	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:21207776C>T	ENST00000342679.4	+	8	856	c.607C>T	c.(607-609)Cat>Tat	p.H203Y	MAP2K3_ENST00000361818.5_Missense_Mutation_p.H174Y|MAP2K3_ENST00000316920.6_Missense_Mutation_p.H174Y	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	203	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAAGGAGGGCCATGTGAAGAT	0.582													12	108					0	0	0	0	T	21207776	C	T	21207776	3	4	77	1	0	0	0	0	1	0	0	0	9307	594	21	4	637	4	MAP2K3	17	21207776	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	9692752	21207776	59987434	334	14806											
GPR179	440435	broad.mit.edu	37	chr17	36483635	36483635	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagtagtgaattcttcTgtgtctgcagctggagcttt	6	17	10	8	0	5	1	1	1	4	0	5	2	5	2	0	1	3	4	0	1	2	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:36483635T>A	ENST00000342292.4	-	11	5837	c.5817A>T	c.(5815-5817)acA>acT	p.T1939T	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1939						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGAATTCTTCTGTGTCTGCAG	0.498													28	97					0	0	0	0	A	36483635	T	A	36483635	2	1	77	1	0	0	0	0	0	0	0	1	6723	1567	55	5		5	GPR179	17	36483635	Silent	SNP	T	TCGA-CN-5356-01A-01D-1434-08	15275859	36483635	44711575	335	14807											
ERBB2	2064	broad.mit.edu	37	chr17	37879629	37879629	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgctggtcgtggtcttgggGgtggtctttgggatcctcat	2	15	16	8	1	3	0	1	0	2	0	5	1	4	1	1	6	1	1	1	6	0	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:37879629G>T	ENST00000406381.2	+	19	2424	c.1914G>T	c.(1912-1914)ggG>ggT	p.G638G	ERBB2_ENST00000269571.5_Silent_p.G668G|ERBB2_ENST00000541774.1_Silent_p.G653G|ERBB2_ENST00000540147.1_Silent_p.G638G|ERBB2_ENST00000584601.1_Silent_p.G638G|ERBB2_ENST00000584450.1_Silent_p.G668G|ERBB2_ENST00000445658.2_Silent_p.G392G	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	668					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGGTCTTGGGGGTGGTCTTTG	0.607		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			49	147					3.21987e-24	4.12519e-24	1	0	T	37879629	G	T	37879629	2	4	77	1	0	0	0	0	0	0	0	1	5244	1219	43	4		4	ERBB2	17	37879629	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1395994	37879629	43315581	336	14808											
KRTAP4-8	728224	broad.mit.edu	37	chr17	39253804	39253804	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagaggaggcgcagcacAcggggcgggggcaggtggag	10	1	22	8	3	0	1	0	0	0	1	0	3	0	3	0	8	2	4	0	8	1	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:39253804A>T	ENST00000333822.4	-	1	589	c.533T>A	c.(532-534)gTg>gAg	p.V178E		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	178						keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GGCGCAGCACACGGGGCGGGG	0.617													2	2					0	0	0	0	T	39253804	A	T	39253804	3	4	77	1	0	0	0	0	1	0	0	0	8609	159	6	5	28	5	KRTAP4-8	17	39253804	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	1374175	39253804	41941406	337	14809											
KRT33A	3883	broad.mit.edu	37	chr17	39502482	39502482	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtggcgcaggggttggaGgggagcctgtgggcagaaaa	8	7	21	5	1	0	1	0	0	0	1	0	3	0	3	1	7	1	4	1	7	2	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:39502482G>A	ENST00000007735.3	-	7	1148	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	368	Tail.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				AGGGGTTGGAGGGGAGCCTGT	0.488													12	129					0	0	0	0	A	39502482	G	A	39502482	2	1	77	1	0	0	0	0	0	0	0	1	8521	987	35	4		4	KRT33A	17	39502482	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	248678	39502482	41692728	338	14810											
CNTD1	124817	broad.mit.edu	37	chr17	40951132	40951132	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccctcgttgactttcAgtttggagttgtcgccacag	5	13	11	12	2	1	1	1	1	0	0	4	2	2	2	3	2	0	3	3	2	0	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:40951132A>G	ENST00000588408.1	+	1	323	c.47A>G	c.(46-48)cAg>cGg	p.Q16R	CNTD1_ENST00000588527.1_Intron	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	16										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GTTGACTTTCAGTTTGGAGTT	0.607													3	70					0	0	0	0	G	40951132	A	G	40951132	3	3	77	1	0	0	0	0	1	0	0	0	3665	188	7	5	49	5	CNTD1	17	40951132	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	1448650	40951132	40244078	339	14811											
RUNDC1	146923	broad.mit.edu	37	chr17	41141370	41141370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggtaggtgatcatagatGagttaataaagaaactggac	15	11	11	4	0	1	4	1	2	0	2	1	5	1	5	0	3	1	2	0	3	6	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:41141370G>C	ENST00000361677.1	+	3	682	c.670G>C	c.(670-672)Gag>Cag	p.E224Q		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	224										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GATCATAGATGAGTTAATAAA	0.433													22	56					0	0	0	0	C	41141370	G	C	41141370	3	2	77	1	0	0	0	0	1	0	0	0	13827	1291	45	2	680	2	RUNDC1	17	41141370	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	190238	41141370	40053840	340	14812											
RUNDC1	146923	broad.mit.edu	37	chr17	41141510	41141510	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacagttggttgagcaactGaaaactcagatccgagacct	14	8	10	9	1	1	4	1	2	0	2	2	6	2	4	2	1	4	3	2	1	4	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:41141510G>C	ENST00000361677.1	+	3	822	c.810G>C	c.(808-810)ctG>ctC	p.L270L		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	270										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TTGAGCAACTGAAAACTCAGA	0.478													35	85					0	0	0	0	C	41141510	G	C	41141510	2	2	77	1	0	0	0	0	0	0	0	1	13827	1277	45	2		2	RUNDC1	17	41141510	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	140	41141510	40053700	341	14813											
MYCBPAP	84073	broad.mit.edu	37	chr17	48601147	48601147	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagaggaaagtactggaggTaagggacccaggaccatggc	13	5	16	7	0	0	1	0	1	0	1	0	6	0	5	2	6	1	2	2	6	3	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:48601147T>A	ENST00000323776.5	+	12	1926		c.e12+2		MYCBPAP_ENST00000436259.2_Splice_Site	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein						cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GTACTGGAGGTAAGGGACCCA	0.532													15	49					0	0	0	0	A	48601147	T	A	48601147	5	1	77	1	0	0	0	0	0	0	1	0	10089	1652	57	5	1812	5	MYCBPAP	17	48601147	Splice_Site	SNP	T	TCGA-CN-5356-01A-01D-1434-08	7459637	48601147	32594063	342	14814											
MMD	23531	broad.mit.edu	37	chr17	53471830	53471830	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatgccatcactcttgaaGaacacaactcccaagcaata	16	8	5	12	0	2	3	1	2	1	1	3	3	3	3	2	0	4	1	2	0	6	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:53471830G>A	ENST00000262065.3	-	7	878	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	194					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CACTCTTGAAGAACACAACTC	0.453													26	89					0	0	0	0	A	53471830	G	A	53471830	2	1	77	1	0	0	0	0	0	0	0	1	9712	933	33	2		2	MMD	17	53471830	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	4870683	53471830	27723380	343	14815											
CSH1	1442	broad.mit.edu	37	chr17	61972821	61972821	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggattggtgacccctggCgccaccctcacccccatcag	7	6	9	19	1	2	1	2	1	0	0	2	2	2	2	7	3	0	0	7	3	0	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:61972821C>A	ENST00000329882.8	-	4	538	c.468G>T	c.(466-468)gcG>gcT	p.A156A	CSH1_ENST00000453363.3_Intron|CSH1_ENST00000316193.8_Intron			P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	0					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGACCCCTGGCGCCACCCTCA	0.567									Russell-Silver syndrome				52	140					2.48254e-18	3.05106e-18	1	0	A	61972821	C	A	61972821	2	1	77	1	0	0	0	0	0	0	0	1	3972	755	27	3		3	CSH1	17	61972821	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	8500991	61972821	19222389	344	14816											
SEPT9	10801	broad.mit.edu	37	chr17	75488797	75488797	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgaacgagaagttccGggtgagtggatccactagga	10	8	16	7	2	0	3	0	2	0	1	2	6	2	5	2	4	1	2	2	4	3	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:75488797G>C	ENST00000329047.8	+	8	2233	c.1422_splice	c.e8+1	p.R474_splice	SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000588690.1_Splice_Site_p.R328_splice|SEPT9_ENST00000585930.1_Splice_Site_p.R268_splice|SEPT9_ENST00000541152.2_Splice_Site_p.R241_splice|SEPT9_ENST00000431235.2_Splice_Site_p.R328_splice|SEPT9_ENST00000427674.2_Splice_Site_p.R328_splice|SEPT9_ENST00000591198.1_Splice_Site_p.R473_splice|SEPT9_ENST00000449803.2_Splice_Site_p.R328_splice|SEPT9_ENST00000427177.1_Splice_Site_p.R492_splice|SEPT9_ENST00000423034.2_Splice_Site_p.R485_splice|SEPT9_ENST00000591088.1_Splice_Site_p.R241_splice|SEPT9_ENST00000590294.1_Splice_Site_p.R474_splice|SEPT9_ENST00000592951.1_Splice_Site_p.R241_splice|SEPT9_ENST00000427180.1_Splice_Site_p.R380_splice	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	492					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GAGAAGTTCCGGGTGAGTGGA	0.557													59	170					0	0	0	0	C	75488797	G	C	75488797	5	2	77	1	0	0	0	0	0	0	1	0	14158	1130	39	3	1983	3	SEPT9	17	75488797	Splice_Site	SNP	G	TCGA-CN-5356-01A-01D-1434-08	13515976	75488797	5706413	345	14817											
RPTOR	57521	broad.mit.edu	37	chr17	78820280	78820280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgccccgcagcacagccCgttcttcgccgagcagctga	6	7	11	17	4	1	1	0	1	1	0	2	2	1	1	4	0	5	6	4	0	0	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:78820280C>T	ENST00000306801.3	+	11	1582	c.1220C>T	c.(1219-1221)cCg>cTg	p.P407L	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.P407L|RPTOR_ENST00000537330.1_Missense_Mutation_p.P222L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	407					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CAGCACAGCCCGTTCTTCGCC	0.632													5	166					0	0	0	0	T	78820280	C	T	78820280	3	4	77	1	0	0	0	0	1	0	0	0	13750	652	23	1	1262	1	RPTOR	17	78820280	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	3331483	78820280	2374930	346	14818											
LAMA1	284217	broad.mit.edu	37	chr18	6980533	6980533	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttacctttaggaattgcTctaagtatcaagagtgattc	12	14	7	8	0	2	2	1	1	1	1	3	3	2	3	1	1	2	2	1	1	6	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:6980533T>A	ENST00000389658.3	-	42	6087	c.5994A>T	c.(5992-5994)agA>agT	p.R1998S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1998	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGGAATTGCTCTAAGTATCA	0.373													25	62					0	0	0	0	A	6980533	T	A	6980533	3	1	77	1	0	0	0	0	1	0	0	0	8658	1548	54	5	3321	5	LAMA1	18	6980533	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08		6980533	71096715	347	14819											
PTPRM	5797	broad.mit.edu	37	chr18	8069752	8069752	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcaaatcactatccgctggGagccatttggatataatgta	12	11	10	8	1	1	0	1	0	0	0	2	2	2	2	2	3	1	3	2	3	5	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:8069752G>C	ENST00000332175.8	+	8	2238	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	PTPRM_ENST00000580170.1_Missense_Mutation_p.E401Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.E188Q|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400053.4_Missense_Mutation_p.E339Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.E401Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	401	Fibronectin type-III 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TATCCGCTGGGAGCCATTTGG	0.418													20	56					0	0	0	0	C	8069752	G	C	8069752	3	2	77	1	0	0	0	0	1	0	0	0	12888	1175	41	2	1231	2	PTPRM	18	8069752	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	1089219	8069752	70007496	348	14820											
NPC1	4864	broad.mit.edu	37	chr18	21136302	21136302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcagtgagaggggcccGgatgatgagctgctccgtcc	6	10	15	10	2	1	3	1	3	0	1	3	5	3	4	3	3	2	2	3	3	0	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:21136302G>A	ENST00000269228.5	-	8	1785	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.R161W	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	411					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)					AGAGGGGCCCGGATGATGAGC	0.552													10	52					0	0	0	0	A	21136302	G	A	21136302	3	1	77	1	0	0	0	0	1	0	0	0	10640	1115	39	1	2677	1	NPC1	18	21136302	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	13066550	21136302	56940946	349	14821											
ZNF521	25925	broad.mit.edu	37	chr18	22806498	22806498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcagacctgggtcctgagCttcatgcacttgcttaagat	10	12	9	10	0	2	3	2	1	0	2	3	3	3	3	2	1	3	3	2	1	2	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:22806498C>T	ENST00000361524.3	-	4	1532	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	ZNF521_ENST00000584787.1_Missense_Mutation_p.A242T|ZNF521_ENST00000538137.2_Missense_Mutation_p.A462T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	462					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGGTCCTGAGCTTCATGCACT	0.463			T	PAX5	ALL								22	53					0	0	0	0	T	22806498	C	T	22806498	3	4	77	1	0	0	0	0	1	0	0	0	18060	797	28	4	2571	4	ZNF521	18	22806498	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	1670196	22806498	55270750	350	14822											
CDH2	1000	broad.mit.edu	37	chr18	25585919	25585919	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgtcaatggggttctcCacttgatttccattaatatc	11	15	6	9	0	2	1	1	1	1	0	5	1	3	1	2	2	0	1	2	2	4	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:25585919C>T	ENST00000269141.3	-	6	1164	c.741G>A	c.(739-741)gtG>gtA	p.V247V	CDH2_ENST00000399380.3_Silent_p.V216V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	247	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGGGTTCTCCACTTGATTTC	0.368													64	129					0	0	0	0	T	25585919	C	T	25585919	2	4	77	1	0	0	0	0	0	0	0	1	3134	581	21	4		4	CDH2	18	25585919	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2779421	25585919	52491329	351	14823											
DCC	1630	broad.mit.edu	37	chr18	50278744	50278744	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaaagttgcagtagcaGgtaggtggattcttccttct	10	12	11	8	0	2	0	0	0	2	0	3	1	3	1	1	3	3	6	1	3	4	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:50278744G>T	ENST00000442544.2	+	2	1028	c.412_splice	c.e2+1	p.G138_splice	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	138					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCAGTAGCAGGTAGGTGGAT	0.403													20	50					6.33239e-15	7.51485e-15	1	0	T	50278744	G	T	50278744	5	4	77	1	0	0	0	0	0	0	1	0	4314	1014	35	4	418	4	DCC	18	50278744	Splice_Site	SNP	G	TCGA-CN-5356-01A-01D-1434-08	24692825	50278744	27798504	352	14824											
CDH20	28316	broad.mit.edu	37	chr18	59170350	59170350	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacccaccccgctttcccCagagtgagtacctaacccaa	12	7	5	17	1	0	2	0	1	0	1	1	2	1	2	7	0	3	2	7	0	4	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:59170350C>G	ENST00000262717.4	+	5	1224	c.826C>G	c.(826-828)Cag>Gag	p.Q276E	CDH20_ENST00000538374.1_Missense_Mutation_p.Q276E|CDH20_ENST00000536675.2_Missense_Mutation_p.Q276E			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	276	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CCGCTTTCCCCAGAGTGAGTA	0.557											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	184					0	0	0	0	G	59170350	C	G	59170350	3	3	77	1	0	0	0	0	1	0	0	0	3135	595	21	4	840	4	CDH20	18	59170350	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	8891606	59170350	18906898	353	14825											
CNDP1	84735	broad.mit.edu	37	chr18	72247436	72247436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggttgtttccatgactcTaggactacacccgtggattg	8	13	11	9	1	1	1	0	1	1	0	2	4	2	3	2	3	1	2	2	3	2	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:72247436T>C	ENST00000582365.1	+	9	1175	c.1109T>C	c.(1108-1110)cTa>cCa	p.L370P	CNDP1_ENST00000358821.3_Missense_Mutation_p.L413P			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	413					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TCCATGACTCTAGGACTACAC	0.423													26	43					0	0	0	0	C	72247436	T	C	72247436	3	2	77	1	0	0	0	0	1	0	0	0	3623	1522	53	5	1276	5	CNDP1	18	72247436	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	13077086	72247436	5829812	354	14826											
NFATC1	4772	broad.mit.edu	37	chr18	77246597	77246597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgcaccccggctcgccCgggcagccacccccggccct	4	2	11	24	5	0	0	0	0	0	0	1	0	0	0	8	3	1	3	8	3	0	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:77246597C>T	ENST00000253506.5	+	9	2811	c.2442C>T	c.(2440-2442)ccC>ccT	p.814_814insP	NFATC1_ENST00000318065.5_Missense_Mutation_p.801_801insP|NFATC1_ENST00000329101.4_Silent_p.P801P|NFATC1_ENST00000397790.2_Missense_Mutation_p.342_342insP|NFATC1_ENST00000427363.2_Silent_p.P814P|NFATC1_ENST00000545796.1_Silent_p.P342P|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000542384.1_Intron	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	0	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGGCTCGCCCGGGCAGCCAC	0.751													3	16					0	0	0	0	T	77246597	C	T	77246597	3	4	77	1	0	0	0	0	1	0	0	0	10431	639	23	1	2627	1	NFATC1	18	77246597	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	4999161	77246597	830651	355	14827											
AP3D1	8943	broad.mit.edu	37	chr19	2109208	2109208	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacttagcaaaggcgtcacTgtgggagggacagggaggct	11	6	16	8	1	1	0	1	0	0	0	1	3	1	3	0	5	2	2	0	5	3	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:2109208T>C	ENST00000355272.6	-	30	3557		c.e30-2		AP3D1_ENST00000350812.6_Splice_Site|AP3D1_ENST00000356926.4_Splice_Site|AP3D1_ENST00000345016.5_Splice_Site	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit						eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		AAGGCGTCACTGTGGGAGGGA	0.582													72	167					0	0	0	0	C	2109208	T	C	2109208	5	2	77	1	0	0	0	0	0	0	1	0	747	1594	55	5	310	5	AP3D1	19	2109208	Splice_Site	SNP	T	TCGA-CN-5356-01A-01D-1434-08		2109208	57019775	356	14828											
DOT1L	84444	broad.mit.edu	37	chr19	2226522	2226522	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacacagcttcagtgatggTgcttctcttccccacaaggg	8	12	9	12	0	2	1	1	1	1	0	4	1	3	1	2	2	3	2	2	2	2	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:2226522T>C	ENST00000398665.3	+	27	4038	c.4002T>C	c.(4000-4002)ggT>ggC	p.G1334G		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1334						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		TCAGTGATGGTGCTTCTCTTC	0.701													6	55					0	0	0	0	C	2226522	T	C	2226522	2	2	77	1	0	0	0	0	0	0	0	1	4745	1683	59	5		5	DOT1L	19	2226522	Silent	SNP	T	TCGA-CN-5356-01A-01D-1434-08	117314	2226522	56902461	357	14829											
PLIN4	729359	broad.mit.edu	37	chr19	4504669	4504669	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagagctcacagaggctgtgCcgcgcccgccccactggctg	6	6	13	16	3	1	2	1	0	0	2	1	2	1	2	4	2	2	3	4	2	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:4504669C>T	ENST00000301286.3	-	6	3875	c.3876G>A	c.(3874-3876)cgG>cgA	p.R1292R		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1292						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGAGGCTGTGCCGCGCCCGCC	0.701													3	6					0	0	0	0	T	4504669	C	T	4504669	2	4	77	1	0	0	0	0	0	0	0	1	12164	726	26	4		4	PLIN4	19	4504669	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2278147	4504669	54624314	358	14830											
EMR1	2015	broad.mit.edu	37	chr19	6913820	6913820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcagcaaatatcactccgGctgttcggacggaatactta	11	10	8	12	3	2	0	2	0	0	0	4	2	3	2	2	3	2	3	2	3	5	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:6913820G>T	ENST00000312053.4	+	11	1316	c.1279G>T	c.(1279-1281)Gct>Tct	p.A427S	EMR1_ENST00000450315.3_Missense_Mutation_p.A250S|EMR1_ENST00000381404.4_Missense_Mutation_p.A375S|EMR1_ENST00000381407.5_Missense_Mutation_p.A286S|EMR1_ENST00000250572.8_Missense_Mutation_p.A427S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	427	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TATCACTCCGGCTGTTCGGAC	0.498													52	188					7.37877e-41	9.79106e-41	1	0	T	6913820	G	T	6913820	3	4	77	1	0	0	0	0	1	0	0	0	5142	1203	42	4	1321	4	EMR1	19	6913820	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2409151	6913820	52215163	359	14831											
FBN3	84467	broad.mit.edu	37	chr19	8138159	8138159	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcccgcaggtggggggCgacagggcacactcattctc	6	6	15	14	3	2	0	1	0	1	0	4	1	3	0	1	5	0	3	1	5	0	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:8138159C>A	ENST00000600128.1	-	62	8139	c.7725G>T	c.(7723-7725)tcG>tcT	p.S2575S	FBN3_ENST00000601739.1_Silent_p.S2575S|FBN3_ENST00000270509.2_Silent_p.S2575S			Q75N90	FBN3_HUMAN	fibrillin 3	2575	EGF-like 43; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGTGGGGGGCGACAGGGCAC	0.657													5	52					0.00116845	0.00120848	1	0	A	8138159	C	A	8138159	2	1	77	1	0	0	0	0	0	0	0	1	5749	755	27	3		3	FBN3	19	8138159	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	1224339	8138159	50990824	360	14832											
MYO1F	4542	broad.mit.edu	37	chr19	8587614	8587614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctcccagggatgtggacGgagggccccggggaggcctg	5	5	20	11	2	0	0	0	0	0	0	1	4	1	4	4	8	0	1	4	8	0	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:8587614G>A	ENST00000338257.8	-	26	3221	c.2954C>T	c.(2953-2955)cCg>cTg	p.P985L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	985				IMSGGGTHRPPRGPPSTSLG -> KFIWPRGHPQASPALRP HPWD (in Ref. 5; CAA67058).		unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGATGTGGACGGAGGGCCCCG	0.692													7	25					0	0	0	0	A	8587614	G	A	8587614	3	1	77	1	0	0	0	0	1	0	0	0	10143	1116	39	1	354	1	MYO1F	19	8587614	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	449455	8587614	50541369	361	14833											
OR7D4	125958	broad.mit.edu	37	chr19	9324750	9324750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aactcagatagaccccaagtCctgttccatagaacaaggag	15	7	8	11	0	1	3	1	0	0	3	3	4	3	4	4	1	2	1	4	1	6	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:9324750C>A	ENST00000308682.2	-	1	792	c.764G>T	c.(763-765)gGa>gTa	p.G255V		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GACCCCAAGTCCTGTTCCATA	0.537													19	85					5.35267e-07	5.84918e-07	1	0	A	9324750	C	A	9324750	3	1	77	1	0	0	0	0	1	0	0	0	11291	855	30	2	178	2	OR7D4	19	9324750	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	737136	9324750	49804233	362	14834											
SMARCA4	6597	broad.mit.edu	37	chr19	11144078	11144078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcctagctgcagccaagtAcaagctcaacgtggaccaga	13	6	10	12	1	1	1	1	0	0	1	2	3	2	2	3	1	6	4	3	1	5	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:11144078A>G	ENST00000358026.2	+	26	3943	c.3659A>G	c.(3658-3660)tAc>tGc	p.Y1220C	SMARCA4_ENST00000450717.3_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.Y1220C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1220	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCAGCCAAGTACAAGCTCAAC	0.632			"F, N, Mis"		NSCLC								24	130					0	0	0	0	G	11144078	A	G	11144078	3	3	77	1	0	0	0	0	1	0	0	0	14858	391	14	5	3757	5	SMARCA4	19	11144078	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	1819328	11144078	47984905	363	14835											
ZNF429	353088	broad.mit.edu	37	chr19	21720875	21720875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagatcgagaccgtcctGgctaacatggtgaaaccccg	11	6	12	12	3	0	3	0	1	0	2	2	5	1	3	4	3	2	1	4	3	2	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:21720875G>T	ENST00000358491.4	+	4	2228	c.2020G>T	c.(2020-2022)Ggc>Tgc	p.G674C	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						agaccgtcctggctaacatgg	0.493													3	18					0.004672	0.00480123	1	0	T	21720875	G	T	21720875	3	4	77	1	0	0	0	0	1	0	0	0	17997	1348	47	4	2034	4	ZNF429	19	21720875	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	10576797	21720875	37408108	364	14836											
ZNF43	7594	broad.mit.edu	37	chr19	21992324	21992324	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctttgcatttgaaaagtTttttttcagtatggcttatc	9	21	6	5	0	2	1	1	1	1	0	3	1	2	1	0	1	1	4	0	1	4	9			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:21992324T>G	ENST00000594012.1	-	7	1011	c.497A>C	c.(496-498)aAa>aCa	p.K166T	ZNF43_ENST00000595461.1_Missense_Mutation_p.K166T|ZNF43_ENST00000598381.1_Missense_Mutation_p.K166T|ZNF43_ENST00000354959.4_Missense_Mutation_p.K172T	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTTGAAAAGTTTTTTTTCAGT	0.313													4	61					0	0	0	0	G	21992324	T	G	21992324	3	3	77	1	0	0	0	0	1	0	0	0	17998	1841	64	5	1918	5	ZNF43	19	21992324	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	271449	21992324	37136659	365	14837											
ZNF676	163223	broad.mit.edu	37	chr19	22363959	22363959	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccagtatgaatactcttaTaataagtaagggttgaggac	14	12	9	6	0	1	2	0	2	1	0	2	3	2	3	1	2	1	3	1	2	7	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:22363959T>C	ENST00000397121.2	-	3	877	c.560A>G	c.(559-561)tAt>tGt	p.Y187C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	187				TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AATACTCTTATAATAAGTAAG	0.338													28	158					0	0	0	0	C	22363959	T	C	22363959	3	2	77	1	0	0	0	0	1	0	0	0	18178	1406	49	5	1210	5	ZNF676	19	22363959	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	371635	22363959	36765024	366	14838											
ZNF99	7652	broad.mit.edu	37	chr19	22939865	22939865	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatttctccctagtatgaatTagcttatgtttcttaagggt	9	18	8	6	0	2	1	0	1	2	0	3	2	2	1	1	1	1	3	1	1	6	7			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:22939865T>C	ENST00000397104.3	-	6	2465	c.2466A>G	c.(2464-2466)ctA>ctG	p.L822L						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAGTATGAATTAGCTTATGTT	0.373													27	147					0	0	0	0	C	22939865	T	C	22939865	2	2	77	1	0	0	0	0	0	0	0	1	18297	1741	61	5		5	ZNF99	19	22939865	Silent	SNP	T	TCGA-CN-5356-01A-01D-1434-08	575906	22939865	36189118	367	14839											
ZNF536	9745	broad.mit.edu	37	chr19	31039729	31039729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctgggcctctccaataTgatcagctctctagactctg	9	11	8	13	0	4	3	1	1	3	2	6	3	4	3	3	1	1	1	3	1	3	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:31039729T>C	ENST00000355537.3	+	4	3350	c.3203T>C	c.(3202-3204)aTg>aCg	p.M1068T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1068					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTCTCCAATATGATCAGCTCT	0.562													24	108					0	0	0	0	C	31039729	T	C	31039729	3	2	77	1	0	0	0	0	1	0	0	0	18069	1464	51	5	3213	5	ZNF536	19	31039729	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	8099864	31039729	28089254	368	14840											
GPI	2821	broad.mit.edu	37	chr19	34887334	34887334	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttaccagctcatccaccaAggtaggcccctgtggcctgg	7	10	10	14	0	1	0	1	0	0	0	2	0	2	0	6	4	2	2	6	4	3	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:34887334A>T	ENST00000415930.3	+	13	1394	c.1225_splice	c.e13+1	p.Q408_splice	GPI_ENST00000356487.5_Splice_Site_p.Q397_splice|GPI_ENST00000586425.1_Splice_Site_p.Q397_splice	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	397					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TCATCCACCAAGGTAGGCCCC	0.567													44	108					0	0	0	0	T	34887334	A	T	34887334	5	4	77	1	0	0	0	0	0	0	1	0	6660	86	3	5	1362	5	GPI	19	34887334	Splice_Site	SNP	A	TCGA-CN-5356-01A-01D-1434-08	3847605	34887334	24241649	369	14841											
FFAR1	2864	broad.mit.edu	37	chr19	35842987	35842987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggcctgggacccggcctCtgccggcccggcccgcttca	3	5	15	18	4	2	0	1	0	1	0	2	2	2	2	6	6	1	1	6	6	0	1	rs143187042		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:35842987C>G	ENST00000246553.2	+	1	543	c.533C>G	c.(532-534)tCt>tGt	p.S178C		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	178					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GACCCGGCCTCTGCCGGCCCG	0.677													11	70					0	0	0	0	G	35842987	C	G	35842987	3	3	77	1	0	0	0	0	1	0	0	0	5872	913	32	2	535	2	FFAR1	19	35842987	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	955653	35842987	23285996	370	14842											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572979	38572979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggcggcggcggagccaaGggggactcccacaacgggca	8	1	20	12	4	0	0	0	0	0	0	1	2	1	2	2	8	2	1	2	8	2	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:38572979G>T	ENST00000222345.6	+	3	1283	c.774G>T	c.(772-774)aaG>aaT	p.K258N		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	258					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCGGAGCCAAGGGGGACTCCC	0.721													9	21					9.70103e-10	1.09991e-09	1	0	T	38572979	G	T	38572979	3	4	77	1	0	0	0	0	1	0	0	0	14419	991	35	4	776	4	SIPA1L3	19	38572979	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	2729992	38572979	20556004	371	14843											
ZNF526	116115	broad.mit.edu	37	chr19	42730364	42730364	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgagctcggactttgacgctAcagcctcccagatcaccatc	9	8	8	16	3	1	2	1	1	0	1	4	4	2	3	3	1	3	2	3	1	1	2	rs145952747		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:42730364A>G	ENST00000301215.3	+	3	2034	c.1809A>G	c.(1807-1809)ctA>ctG	p.L603L		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CTTTGACGCTACAGCCTCCCA	0.617													25	104					0	0	0	0	G	42730364	A	G	42730364	2	3	77	1	0	0	0	0	0	0	0	1	18062	378	14	5		5	ZNF526	19	42730364	Silent	SNP	A	TCGA-CN-5356-01A-01D-1434-08	4157385	42730364	16398619	372	14844											
LILRB3	11025	broad.mit.edu	37	chr19	54723084	54723084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacgaaggccaccgagaccCcaatcaaaacctccaggtat	14	4	9	14	2	1	1	1	0	0	1	2	4	2	2	6	3	1	1	6	3	5	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:54723084C>G	ENST00000391750.1	-	9	1476	c.1340G>C	c.(1339-1341)gGg>gCg	p.G447A	LILRA6_ENST00000270464.5_Missense_Mutation_p.G447A|LILRB3_ENST00000245620.9_Missense_Mutation_p.G447A|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.G447A|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.G447A|LILRB3_ENST00000407860.2_Missense_Mutation_p.G464A|LILRB3_ENST00000346401.6_Missense_Mutation_p.G459A|LILRB3_ENST00000424807.1_Missense_Mutation_p.G447A			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	447					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACCGAGACCCCAATCAAAAC	0.562													7	12					0	0	0	0	G	54723084	C	G	54723084	3	3	77	1	0	0	0	0	1	0	0	0	8846	623	22	4	582	4	LILRB3	19	54723084	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	11992720	54723084	4405899	373	14845											
LILRA4	23547	broad.mit.edu	37	chr19	54849458	54849458	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagggtcacgttcactcctGaggtcaccacagggcttggc	7	8	14	12	1	3	1	3	1	0	0	4	2	4	2	2	5	0	2	2	5	0	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:54849458G>C	ENST00000291759.4	-	4	460	c.404C>G	c.(403-405)tCa>tGa	p.S135*		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	135	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTTCACTCCTGAGGTCACCAC	0.582													10	95					0	0	0	0	C	54849458	G	C	54849458	4	2	77	1	0	0	0	0	0	1	0	0	8841	1294	45	2	1115	2	LILRA4	19	54849458	Nonsense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	126374	54849458	4279525	374	14846											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565248	58565248	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccgaggaagaaagccccCcggagcaagggcccccggga	11	0	14	16	3	0	1	0	0	0	1	0	5	0	4	7	4	2	1	7	4	3	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:58565248C>A	ENST00000282326.1	+	6	1303	c.1056C>A	c.(1054-1056)ccC>ccA	p.P352P		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	352					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGAAAGCCCCCCGGAGCAAGG	0.662													11	65					1.58986e-06	1.72951e-06	1	0	A	58565248	C	A	58565248	2	1	77	1	0	0	0	0	0	0	0	1	18319	610	22	4		4	ZSCAN1	19	58565248	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	3715790	58565248	563735	375	14847											
A1BG	1	broad.mit.edu	37	chr19	58864486	58864486	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagtctccaggtgggcctGgcacgtcagcgtcacattgg	6	9	15	11	2	3	0	2	0	1	0	4	1	3	1	2	5	1	1	2	5	0	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:58864486G>A	ENST00000263100.3	-	3	209	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600379.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	50	Ig-like V-type 1.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AGGTGGGCCTGGCACGTCAGC	0.592													94	96					0	0	0	0	A	58864486	G	A	58864486	4	1	77	1	0	0	0	0	0	1	0	0	1	1357	47	4	1363	4	A1BG	19	58864486	Nonsense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	299238	58864486	264497	376	14848											
BPI	671	broad.mit.edu	37	chr20	36954720	36954720	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccatgtctcagcctccacCccgccacacctgtctgtgca	7	9	6	19	1	2	0	1	0	2	0	5	0	4	0	7	0	2	1	7	0	0	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr20:36954720C>A	ENST00000262865.4	+	10	1148	c.1059C>A	c.(1057-1059)acC>acA	p.T353T	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	353					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CAGCCTCCACCCCGCCACACC	0.577													22	33					5.45024e-15	6.49992e-15	1	0	A	36954720	C	A	36954720	2	1	77	1	0	0	0	0	0	0	0	1	1498	610	22	4		4	BPI	20	36954720	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08		36954720	26070800	377	14849											
ZNF334	55713	broad.mit.edu	37	chr20	45131697	45131697	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgtgtcaaatgtttaTcttggatttccttgttcttc	6	21	7	7	0	3	0	1	0	2	0	5	1	4	1	1	1	0	3	1	1	2	8			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr20:45131697T>C	ENST00000457685.2	-	6	1490	c.167A>G	c.(166-168)gAt>gGt	p.D56G	ZNF334_ENST00000593880.1_Missense_Mutation_p.D117G|ZNF334_ENST00000347606.4_Missense_Mutation_p.D94G			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	94	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAAATGTTTATCTTGGATTTC	0.338													42	36					0	0	0	0	C	45131697	T	C	45131697	3	2	77	1	0	0	0	0	1	0	0	0	17946	1435	50	5	1765	5	ZNF334	20	45131697	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	8176977	45131697	17893823	378	14850											
COL20A1	57642	broad.mit.edu	37	chr20	61943100	61943100	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatccgtgccaggaccCgtgagtgctccaaccccggc	6	5	14	16	3	0	1	0	1	0	0	2	2	2	2	6	4	3	2	6	4	1	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr20:61943100C>A	ENST00000422202.1	+	12	1752	c.1684_splice	c.e12+1	p.P562_splice	COL20A1_ENST00000358894.6_Splice_Site_p.P555_splice|COL20A1_ENST00000435874.1_Splice_Site_p.P562_splice|COL20A1_ENST00000326996.6_Splice_Site_p.P555_splice			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	555	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGCCAGGACCCGTGAGTGCTC	0.692													5	7					0.00116845	0.00120848	1	0	A	61943100	C	A	61943100	5	1	77	1	0	0	0	0	0	0	1	0	3709	666	23	3	1709	3	COL20A1	20	61943100	Splice_Site	SNP	C	TCGA-CN-5356-01A-01D-1434-08	16811403	61943100	1082420	379	14851											
TPTE	7179	broad.mit.edu	37	chr21	10934071	10934071	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acattatgatcatcaatcatGattctaacgaccctattatg	14	14	4	9	1	4	2	3	2	1	0	4	3	4	2	1	0	1	0	1	0	5	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr21:10934071G>C	ENST00000298232.7	-	15	1219	c.852C>G	c.(850-852)atC>atG	p.I284M	TPTE_ENST00000361285.4_Missense_Mutation_p.I302M|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.I264M	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	302	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I284I(1)|p.I302I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATCAATCATGATTCTAACGA	0.313													41	280					0	0	0	0	C	10934071	G	C	10934071	3	2	77	1	0	0	0	0	1	0	0	0	16525	1280	45	2	785	2	TPTE	21	10934071	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08		10934071	37195824	380	14852											
TPTE	7179	broad.mit.edu	37	chr21	10952935	10952935	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatgcaaaggatgatacaaTtgaatgcacaattttcttaa	18	12	6	5	0	1	2	0	2	1	0	1	3	1	3	0	1	3	2	0	1	7	5	rs146617486	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr21:10952935T>C	ENST00000298232.7	-	8	575	c.208A>G	c.(208-210)Att>Gtt	p.I70V	TPTE_ENST00000361285.4_Missense_Mutation_p.I88V|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.I50V	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	88					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATGATACAATTGAATGCACA	0.323													19	154					0	0	0	0	C	10952935	T	C	10952935	3	2	77	1	0	0	0	0	1	0	0	0	16525	1493	52	5	1457	5	TPTE	21	10952935	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	18864	10952935	37176960	381	14853											
MYO18B	84700	broad.mit.edu	37	chr22	26422890	26422890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaaatcgaaggggccgCtggtggtctcttgaggtcca	7	9	15	10	2	1	1	0	1	1	0	4	3	2	2	3	6	0	1	3	6	2	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:26422890C>A	ENST00000335473.7	+	43	7200	c.6950C>A	c.(6949-6951)gCt>gAt	p.A2317D	MYO18B_ENST00000407587.2_Missense_Mutation_p.A2318D|MYO18B_ENST00000536101.1_Missense_Mutation_p.A2317D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2317						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAGGGGCCGCTGGTGGTCTC	0.587													24	68					1.66031e-10	1.89581e-10	1	0	A	26422890	C	A	26422890	3	1	77	1	0	0	0	0	1	0	0	0	10136	797	28	4	7116	4	MYO18B	22	26422890	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08		26422890	24881676	382	14854											
ZNRF3	84133	broad.mit.edu	37	chr22	29446545	29446546	+	Frame_Shift_Ins	INS	-	-	G																															aggtggcccgcgggggcggaINSgggggcagcggctgctacac																										TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:29446545_29446546insG	ENST00000544604.2	+	8	2551_2552	c.2376_2377insG	c.(2374-2379)ggggggfs	p.GG792fs	ZNRF3_ENST00000406323.3_Frame_Shift_Ins_p.GG692fs|ZNRF3_ENST00000402174.1_Frame_Shift_Ins_p.GG692fs|ZNRF3_ENST00000332811.4_Frame_Shift_Ins_p.GG692fs	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	792						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCGGGGGCGGAGGGGGCAGCGG	0.658													7	27	---	---	---	---					G	29446546	-	G	29446545	7	5	77	1	0	1	1	0	0	0	0	0	18306	291	11	0	2102	0	ZNRF3	22	29446545	Frame_Shift_Ins	INS	-	TCGA-CN-5356-01A-01D-1434-08	3023655	29446545	21858021	383	14855											
SLC5A4	6527	broad.mit.edu	37	chr22	32625260	32625260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgaagagggtgctggCgctgttgaagatggaggtca	10	9	18	4	1	1	4	1	2	0	2	1	5	1	5	0	5	1	3	0	5	3	1	rs144357030	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:32625260C>T	ENST00000266086.4	-	11	1212	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	401					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGGGTGCTGGCGCTGTTGAAG	0.577													58	145					0	0	0	0	T	32625260	C	T	32625260	3	4	77	1	0	0	0	0	1	0	0	0	14755	768	27	1	798	1	SLC5A4	22	32625260	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	3178715	32625260	18679306	384	14856											
CYTH4	27128	broad.mit.edu	37	chr22	37708147	37708147	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggcagggtggtggagggCaagcacgaatcgtaccgcat	10	5	17	9	4	0	0	0	0	0	0	1	3	0	1	1	5	2	5	1	5	3	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:37708147C>A	ENST00000248901.6	+	12	1231	c.1044C>A	c.(1042-1044)ggC>ggA	p.G348G		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	348	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TGGTGGAGGGCAAGCACGAAT	0.627													13	65					0.000151284	0.000159195	1	0	A	37708147	C	A	37708147	2	1	77	1	0	0	0	0	0	0	0	1	4238	697	25	4		4	CYTH4	22	37708147	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	5082887	37708147	13596419	385	14857											
APOBEC3D	140564	broad.mit.edu	37	chr22	39421332	39421332	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcataaggcaggggcccgTgtgaagatcatggactatga	11	8	14	8	1	1	3	1	2	0	1	1	4	1	4	1	4	1	2	1	4	3	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:39421332T>C	ENST00000216099.7	+	3	875	c.468T>C	c.(466-468)cgT>cgC	p.R156R	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.R156R	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	156					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CAGGGGCCCGTGTGAAGATCA	0.592													39	48					0	0	0	0	C	39421332	T	C	39421332	2	2	77	1	0	0	0	0	0	0	0	1	794	1683	59	5		5	APOBEC3D	22	39421332	Silent	SNP	T	TCGA-CN-5356-01A-01D-1434-08	1713185	39421332	11883234	386	14858											
MGAT3	4248	broad.mit.edu	37	chr22	39883967	39883967	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgcccagggaggtgccGcgccgcgtcatcaacgccat	6	6	14	15	5	2	0	2	0	0	0	2	1	2	1	4	3	3	0	4	3	1	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:39883967G>A	ENST00000341184.6	+	2	830	c.615G>A	c.(613-615)ccG>ccA	p.P205P		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	205					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGGAGGTGCCGCGCCGCGTCA	0.677													6	16					0	0	0	0	A	39883967	G	A	39883967	2	1	77	1	0	0	0	0	0	0	0	1	9613	1074	38	1		1	MGAT3	22	39883967	Silent	SNP	G	TCGA-CN-5356-01A-01D-1434-08	462635	39883967	11420599	387	14859											
TUBGCP6	85378	broad.mit.edu	37	chr22	50656953	50656953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcagacgtccttgagcgCccacatcatgagcttcagct	10	8	10	13	2	2	3	2	2	0	1	3	4	3	3	2	0	4	3	2	0	1	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:50656953C>T	ENST00000248846.5	-	22	5022	c.4918G>A	c.(4918-4920)Gcg>Acg	p.A1640T	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1640					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCTTGAGCGCCCACATCATG	0.652													14	75					0	0	0	0	T	50656953	C	T	50656953	3	4	77	1	0	0	0	0	1	0	0	0	16866	739	26	4	557	4	TUBGCP6	22	50656953	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	10772986	50656953	647613	388	14860											
CDKL5	6792	broad.mit.edu	37	chrX	18602398	18602398	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggttttgctcgtaatcTgtcagaaggcaataatgcta	11	14	9	7	1	3	1	2	0	1	1	4	1	3	1	0	2	2	5	0	2	5	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:18602398T>G	ENST00000379989.3	+	9	764	c.479T>G	c.(478-480)cTg>cGg	p.L160R	CDKL5_ENST00000379996.3_Missense_Mutation_p.L160R	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	160	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCTCGTAATCTGTCAGAAGGC	0.383													30	116					0	0	0	0	G	18602398	T	G	18602398	3	3	77	1	0	0	0	0	1	0	0	0	3186	1580	55	5	505	5	CDKL5	23	18602398	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08		18602398	136668162	389	14861											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998655	27998655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaattagttctgctaccCgtacctgtccatcatggcca	9	13	6	13	1	2	0	1	0	1	0	3	0	3	0	4	1	3	3	4	1	4	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:27998655C>T	ENST00000441525.1	-	1	911	c.797G>A	c.(796-798)cGg>cAg	p.R266Q		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	266										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TTCTGCTACCCGTACCTGTCC	0.493													27	40					0	0	0	0	T	27998655	C	T	27998655	3	4	77	1	0	0	0	0	1	0	0	0	4310	652	23	1	1009	1	DCAF8L1	23	27998655	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	9396257	27998655	127271905	390	14862											
MAGEB4	4115	broad.mit.edu	37	chrX	30260456	30260456	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagagagagccacccacCacctctgctgctgcagctat	9	7	8	17	0	2	2	1	0	1	2	2	3	2	2	5	0	5	4	5	0	1	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:30260456C>G	ENST00000378982.2	+	1	400	c.204C>G	c.(202-204)acC>acG	p.T68T		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	68										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AGCCACCCACCACCTCTGCTG	0.532													15	13					0	0	0	0	G	30260456	C	G	30260456	2	3	77	1	0	0	0	0	0	0	0	1	9247	581	21	4		4	MAGEB4	23	30260456	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	2261801	30260456	125010104	391	14863											
MAGEB1	4112	broad.mit.edu	37	chrX	30268767	30268767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggatactcccacaagctccCctgctgctggcattccccag	7	8	9	17	0	0	0	0	0	0	0	3	1	3	1	5	2	4	4	5	2	2	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:30268767C>A	ENST00000378981.3	+	4	478	c.157C>A	c.(157-159)Cct>Act	p.P53T	MAGEB1_ENST00000397548.2_Missense_Mutation_p.P53T|MAGEB1_ENST00000397550.1_Missense_Mutation_p.P53T	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	53										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CACAAGCTCCCCTGCTGCTGG	0.587													10	7					0.0581538	0.0588853	1	0	A	30268767	C	A	30268767	3	1	77	1	0	0	0	0	1	0	0	0	9241	623	22	4	159	4	MAGEB1	23	30268767	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	8311	30268767	125001793	392	14864											
CACNA1F	778	broad.mit.edu	37	chrX	49075889	49075889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacatgatggtggatgaggGtgtggcagcccttcctcagc	8	9	15	9	0	1	3	1	2	0	1	2	4	2	4	2	4	2	1	2	4	0	1			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:49075889G>T	ENST00000376265.2	-	21	2658	c.2597C>A	c.(2596-2598)aCc>aAc	p.T866N	CACNA1F_ENST00000376251.1_Missense_Mutation_p.T801N|CACNA1F_ENST00000323022.5_Missense_Mutation_p.T855N	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	866					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTGGATGAGGGTGTGGCAGCC	0.567													5	7					0.00198382	0.0020474	1	0	T	49075889	G	T	49075889	3	4	77	1	0	0	0	0	1	0	0	0	2568	1261	44	4	3448	4	CACNA1F	23	49075889	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	18807122	49075889	106194671	393	14865											
GSPT2	23708	broad.mit.edu	37	chrX	51488052	51488052	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagtacaaagatatgggcActgtggtcctgggaaagctg	13	9	13	6	0	0	1	0	0	0	1	1	2	1	2	1	3	2	3	1	3	5	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:51488052A>C	ENST00000340438.4	+	1	1572	c.1330A>C	c.(1330-1332)Act>Cct	p.T444P		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	444					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGATATGGGCACTGTGGTCCT	0.413													33	30					0	0	0	0	C	51488052	A	C	51488052	3	2	77	1	0	0	0	0	1	0	0	0	6877	159	6	5	1332	5	GSPT2	23	51488052	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	2412163	51488052	103782508	394	14866											
FOXO4	4303	broad.mit.edu	37	chrX	70321491	70321491	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagaatgcctcaggatctaGatcttgatatgtatatggag	13	12	10	6	0	3	3	1	1	2	2	3	5	3	5	1	2	1	1	1	2	5	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:70321491G>C	ENST00000374259.3	+	2	1743	c.1411G>C	c.(1411-1413)Gat>Cat	p.D471H	FOXO4_ENST00000341558.3_Missense_Mutation_p.D416H	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	471					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					TCAGGATCTAGATCTTGATAT	0.527													46	42					0	0	0	0	C	70321491	G	C	70321491	3	2	77	1	0	0	0	0	1	0	0	0	6072	942	33	2	1417	2	FOXO4	23	70321491	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	18833439	70321491	84949069	395	14867											
TBX22	50945	broad.mit.edu	37	chrX	79282239	79282239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcataagtacaaaccccgaGtgcacgtgatagagcaaggc	14	6	11	10	2	0	2	0	1	0	1	0	3	0	2	2	1	5	4	2	1	5	3			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:79282239G>T	ENST00000442340.1	+	6	800	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	TBX22_ENST00000373294.5_Missense_Mutation_p.V224L|TBX22_ENST00000373296.3_Missense_Mutation_p.V224L|TBX22_ENST00000373291.1_Missense_Mutation_p.V104L	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	224					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAAACCCCGAGTGCACGTGAT	0.453													37	44					1.30998e-17	1.60183e-17	1	0	T	79282239	G	T	79282239	3	4	77	1	0	0	0	0	1	0	0	0	15752	1029	36	4	688	4	TBX22	23	79282239	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	8960748	79282239	75988321	396	14868											
NXF3	56000	broad.mit.edu	37	chrX	102332615	102332615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactagggtgaacaaggcaCtctgggtcccttggtggctg	7	9	15	10	0	1	1	0	1	1	0	2	1	2	1	1	5	1	3	1	5	3	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:102332615C>T	ENST00000395065.3	-	18	1612	c.1511G>A	c.(1510-1512)aGt>aAt	p.S504N	NXF3_ENST00000425644.1_Missense_Mutation_p.S176N|NXF3_ENST00000497850.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	504						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GAACAAGGCACTCTGGGTCCC	0.567													63	32					0	0	0	0	T	102332615	C	T	102332615	3	4	77	1	0	0	0	0	1	0	0	0	10856	565	20	4	92	4	NXF3	23	102332615	Missense_Mutation	SNP	C	TCGA-CN-5356-01A-01D-1434-08	23050376	102332615	52937945	397	14869											
PAK3	5063	broad.mit.edu	37	chrX	110385414	110385414	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggtttgatgcagtcaccgGggaattcactgtaagtaagc	10	10	14	7	1	2	1	2	1	0	0	2	2	2	2	1	4	2	4	1	4	3	4			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:110385414G>C	ENST00000519681.1	+	6	708	c.266G>C	c.(265-267)gGg>gCg	p.G89A	PAK3_ENST00000425146.1_Missense_Mutation_p.G89A|PAK3_ENST00000372007.4_Missense_Mutation_p.G89A|PAK3_ENST00000417227.1_Missense_Mutation_p.G89A|PAK3_ENST00000360648.4_Missense_Mutation_p.G89A|PAK3_ENST00000518291.1_Missense_Mutation_p.G89A|PAK3_ENST00000372010.1_Missense_Mutation_p.G89A|PAK3_ENST00000262836.4_Missense_Mutation_p.G89A|PAK3_ENST00000446737.1_Missense_Mutation_p.G89A			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	89	Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCAGTCACCGGGGAATTCACT	0.418										TSP Lung(19;0.15)			82	80					0	0	0	0	C	110385414	G	C	110385414	3	2	77	1	0	0	0	0	1	0	0	0	11473	1232	43	4	272	4	PAK3	23	110385414	Missense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	8052799	110385414	44885146	398	14870											
BCORL1	63035	broad.mit.edu	37	chrX	129171509	129171509	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgcgcaggacggcacgagGcaagagggctgcatctcccc	9	4	15	13	3	1	1	0	0	1	1	2	3	1	2	2	4	2	5	2	4	1	0			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:129171509G>A	ENST00000540052.1	+	8	4516		c.e8+1		BCORL1_ENST00000303743.5_Splice_Site|BCORL1_ENST00000359304.2_Splice_Site|BCORL1_ENST00000218147.7_Splice_Site	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACGGCACGAGGCAAGAGGGCT	0.652													49	46					0	0	0	0	A	129171509	G	A	129171509	5	1	77	1	0	0	0	0	0	0	1	0	1391	1217	42	4	4729	4	BCORL1	23	129171509	Splice_Site	SNP	G	TCGA-CN-5356-01A-01D-1434-08	18786095	129171509	26099051	399	14871											
MAGEC1	9947	broad.mit.edu	37	chrX	140994507	140994507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgcttttgagggttttccCcagtctcctctccagattcc	5	15	8	13	0	2	2	0	1	2	1	6	2	4	2	5	1	1	2	5	1	0	5			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:140994507C>T	ENST00000285879.4	+	4	1603	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	439							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGTTTTCCCCAGTCTCCTC	0.453										HNSCC(15;0.026)			108	106					0	0	0	0	T	140994507	C	T	140994507	2	4	77	1	0	0	0	0	0	0	0	1	9249	610	22	4		4	MAGEC1	23	140994507	Silent	SNP	C	TCGA-CN-5356-01A-01D-1434-08	11822998	140994507	14276053	400	14872											
SLITRK4	139065	broad.mit.edu	37	chrX	142717807	142717807	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgcatttaaaggtttcggtAtcagttcagacatagactgt	11	14	9	7	2	2	2	2	0	0	2	4	2	2	2	0	2	0	4	0	2	4	6			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:142717807A>G	ENST00000381779.4	-	2	1343	c.1118T>C	c.(1117-1119)aTa>aCa	p.I373T	SLITRK4_ENST00000356928.1_Missense_Mutation_p.I373T|SLITRK4_ENST00000338017.4_Missense_Mutation_p.I373T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	373	LRRNT.					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)					AGGTTTCGGTATCAGTTCAGA	0.443													103	76					0	0	0	0	G	142717807	A	G	142717807	3	3	77	1	0	0	0	0	1	0	0	0	14833	449	16	5	1399	5	SLITRK4	23	142717807	Missense_Mutation	SNP	A	TCGA-CN-5356-01A-01D-1434-08	1723300	142717807	12552753	401	14873											
AFF2	2334	broad.mit.edu	37	chrX	148037158	148037158	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaccctcaaccaacaagtGgcaactggataaatggctta	14	7	8	12	0	1	0	1	0	0	0	1	1	1	1	3	3	3	2	3	3	7	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:148037158G>A	ENST00000370460.2	+	11	2062	c.1583G>A	c.(1582-1584)tGg>tAg	p.W528*	AFF2_ENST00000342251.3_Nonsense_Mutation_p.W495*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.W495*|AFF2_ENST00000286437.5_Nonsense_Mutation_p.W169*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	528					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAACAAGTGGCAACTGGAT	0.443													115	107					0	0	0	0	A	148037158	G	A	148037158	4	1	77	1	0	0	0	0	0	1	0	0	357	1357	47	4	1680	4	AFF2	23	148037158	Nonsense_Mutation	SNP	G	TCGA-CN-5356-01A-01D-1434-08	5319351	148037158	7233402	402	14874											
MAGEA12	4111	broad.mit.edu	37	chrX	151900745	151900745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcccagggcctctcctTgggcctcaaggccttcctca	6	8	9	18	0	3	0	2	0	1	0	5	0	4	0	7	3	1	0	7	3	2	2			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:151900745T>C	ENST00000393900.3	-	3	409	c.56A>G	c.(55-57)cAa>cGa	p.Q19R	MAGEA12_ENST00000393869.3_Missense_Mutation_p.Q19R|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.Q19R	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	19										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTCTCCTTGGGCCTCAAG	0.617													19	50					0	0	0	0	C	151900745	T	C	151900745	3	2	77	1	0	0	0	0	1	0	0	0	9231	1812	63	5	892	5	MAGEA12	23	151900745	Missense_Mutation	SNP	T	TCGA-CN-5356-01A-01D-1434-08	3863587	151900745	3369815	403	14875											
HTR1D	3352	broad.mit.edu	37	chr1	23520602	23520602	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accacggcaagggagatcttGagcgcctggagggtcctggg	8	6	17	10	2	1	2	0	1	1	1	2	4	2	3	3	5	1	1	3	5	1	1			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr1:23520602G>C	ENST00000374619.1	-	1	620	c.111C>G	c.(109-111)ctC>ctG	p.L37L	HTR1D_ENST00000314113.3_Silent_p.L37L	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	37					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGGAGATCTTGAGCGCCTGGA	0.567													9	126					0	0	0	0	C	23520602	G	C	23520602	2	2	78	1	0	0	0	0	0	0	0	1	7491	1277	45	2		2	HTR1D	1	23520602	Silent	SNP	G	TCGA-CN-5358-01A-01D-1512-08		23520602	225730019	1	14876											
GPATCH3	63906	broad.mit.edu	37	chr1	27226896	27226896	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccgctcactaccaggtaaActgtcgcctcctcctccgcc	7	9	6	19	3	1	0	1	0	0	0	5	0	4	0	7	1	3	2	7	1	4	3			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr1:27226896A>G	ENST00000361720.5	-	1	61	c.38T>C	c.(37-39)gTt>gCt	p.V13A		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	13						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TACCAGGTAAACTGTCGCCTC	0.592													3	68					0	0	0	0	G	27226896	A	G	27226896	3	3	78	1	0	0	0	0	1	0	0	0	6641	43	2	5	1567	5	GPATCH3	1	27226896	Missense_Mutation	SNP	A	TCGA-CN-5358-01A-01D-1512-08	3706294	27226896	222023725	2	14877											
JAK1	3716	broad.mit.edu	37	chr1	65307005	65307005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagttgctggttttttttCtgaaacaatatctggatcta	9	19	7	6	0	4	1	1	1	3	0	4	2	4	2	0	2	2	3	0	2	4	8	rs67572613		TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr1:65307005C>G	ENST00000342505.4	-	19	2820	c.2572G>C	c.(2572-2574)Gaa>Caa	p.E858Q		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	858					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGTTTTTTTTCTGAAACAATA	0.473			Mis		ALL								16	143					0	0	0	0	G	65307005	C	G	65307005	3	3	78	1	0	0	0	0	1	0	0	0	7990	922	32	2	920	2	JAK1	1	65307005	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	38080109	65307005	183943616	3	14878											
FCRLB	127943	broad.mit.edu	37	chr1	161697058	161697058	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttctcccctggacccggcctCcaccaccgccccagctccat	5	7	6	23	2	1	0	0	0	1	0	4	1	3	1	10	2	1	1	10	2	0	1			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr1:161697058C>G	ENST00000367948.2	+	8	1102	c.887C>G	c.(886-888)tCc>tGc	p.S296C	FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367945.1_Missense_Mutation_p.P241A|FCRLB_ENST00000367946.3_Missense_Mutation_p.P248A|FCRLB_ENST00000392158.1_Missense_Mutation_p.S296C|FCRLB_ENST00000367944.3_Silent_p.L254L|FCRLB_ENST00000336830.5_Silent_p.L261L			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	296						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GACCCGGCCTCCACCACCGCC	0.667													3	47					0	0	0	0	G	161697058	C	G	161697058	3	3	78	1	0	0	0	0	1	0	0	0	5846	855	30	2	909	2	FCRLB	1	161697058	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	96390053	161697058	87553563	4	14879											
GLUL	2752	broad.mit.edu	37	chr1	182355001	182355001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgccataggctctgtctgctCccacaccacagtaatatgga	10	10	8	13	0	2	0	0	0	2	0	3	1	3	1	3	2	2	3	3	2	3	3			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr1:182355001C>T	ENST00000311223.5	-	6	1393	c.497G>A	c.(496-498)gGa>gAa	p.G166E	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Missense_Mutation_p.G166E|GLUL_ENST00000331872.6_Missense_Mutation_p.G166E|GLUL_ENST00000417584.2_Missense_Mutation_p.G166E	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	166					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	TCTGTCTGCTCCCACACCACA	0.512													14	176					0	0	0	0	T	182355001	C	T	182355001	3	4	78	1	0	0	0	0	1	0	0	0	6529	855	30	2	636	2	GLUL	1	182355001	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	20657943	182355001	66895620	5	14880											
SULT6B1	391365	broad.mit.edu	37	chr2	37410658	37410658	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatggaaagcctttcattctCttaaaaatatacacaaaaag	18	11	5	7	0	2	0	1	0	1	0	3	2	2	1	1	1	2	0	1	1	8	5			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:37410658C>G	ENST00000535679.1	-	3	312		c.e3-1		SULT6B1_ENST00000407963.1_Splice_Site|SULT6B1_ENST00000260637.3_Splice_Site|SULT6B1_ENST00000379149.2_Intron			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1							cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CTTTCATTCTCTTAAAAATAT	0.408													3	105					0	0	0	0	G	37410658	C	G	37410658	5	3	78	1	0	0	0	0	0	0	1	0	15474	927	32	2	619	2	SULT6B1	2	37410658	Splice_Site	SNP	C	TCGA-CN-5358-01A-01D-1512-08		37410658	205788715	6	14881											
IMMT	10989	broad.mit.edu	37	chr2	86374882	86374882	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggacatctcgcaagtgAtcagtgtgggcagctgcctg	9	9	13	10	1	2	1	1	1	1	0	3	2	2	2	1	2	2	3	1	2	2	1			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:86374882A>G	ENST00000410111.3	-	13	1863	c.1476T>C	c.(1474-1476)gaT>gaC	p.D492D	IMMT_ENST00000254636.5_Silent_p.D393D|IMMT_ENST00000442664.2_Silent_p.D491D|IMMT_ENST00000409051.2_Silent_p.D445D|IMMT_ENST00000449247.2_Silent_p.D481D	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	492						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCGCAAGTGATCAGTGTGGG	0.478													8	128					0	0	0	0	G	86374882	A	G	86374882	2	3	78	1	0	0	0	0	0	0	0	1	7771	330	12	5		5	IMMT	2	86374882	Silent	SNP	A	TCGA-CN-5358-01A-01D-1512-08	48964224	86374882	156824491	7	14882											
TRIM43	129868	broad.mit.edu	37	chr2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagaaatctatatgaggagGgaagaacagccttcctctgg	14	8	12	7	0	2	3	0	1	2	2	3	6	3	5	2	3	2	0	2	3	5	3			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular	zinc ion binding	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398													3	45					0	0	0	0	A	96260870	G	A	96260870	3	1	78	1	0	0	0	0	1	0	0	0	16613	1233	43	4	490	4	TRIM43	2	96260870	Missense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08	9885988	96260870	146938503	8	14883											
TTN	7273	broad.mit.edu	37	chr2	179436108	179436108	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtccctggaggacagtgtGacaactggagtgccaggagg	9	7	16	9	0	0	1	0	1	0	0	1	5	1	5	2	5	2	0	2	5	1	0			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:179436108G>C	ENST00000589042.1	-	326	74975	c.74751C>G	c.(74749-74751)gtC>gtG	p.V24917V	TTN_ENST00000359218.5_Silent_p.V15977V|TTN_ENST00000342175.6_Silent_p.V16044V|TTN_ENST00000460472.2_Silent_p.V15852V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V22349V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V23276V|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23276	Fibronectin type-III 81.						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)			AGGACAGTGTGACAACTGGAG	0.468													6	157					0	0	0	0	C	179436108	G	C	179436108	2	2	78	1	0	0	0	0	0	0	0	1	16831	1277	45	2		2	TTN	2	179436108	Silent	SNP	G	TCGA-CN-5358-01A-01D-1512-08	83175238	179436108	63763265	9	14884											
VIL1	7429	broad.mit.edu	37	chr2	219313973	219313973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtccattgaagatttcactCaggcctttgggatgactcca	9	13	9	10	0	2	3	2	2	0	1	4	4	4	4	3	2	0	0	3	2	1	3			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:219313973C>G	ENST00000248444.5	+	20	2486	c.2398C>G	c.(2398-2400)Cag>Gag	p.Q800E	VIL1_ENST00000392114.2_Missense_Mutation_p.Q489E	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	800	HP.|Headpiece.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATTTCACTCAGGCCTTTGG	0.493													6	353					0	0	0	0	G	219313973	C	G	219313973	3	3	78	1	0	0	0	0	1	0	0	0	17260	827	29	2	2472	2	VIL1	2	219313973	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	39877865	219313973	23885400	10	14885											
UGT1A8	54576	broad.mit.edu	37	chr2	234527158	234527158	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaacccgtgatgcccaatAtgatcttcattggtggtatc	10	12	8	11	1	2	2	1	2	1	0	3	2	2	2	3	2	2	1	3	2	4	4			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:234527158A>G	ENST00000373450.4	+	1	868	c.805A>G	c.(805-807)Atg>Gtg	p.M269V		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		GATGCCCAATATGATCTTCAT	0.433													33	408					0	0	0	0	G	234527158	A	G	234527158	3	3	78	1	0	0	0	0	1	0	0	0	17047	449	16	5	807	5	UGT1A8	2	234527158	Missense_Mutation	SNP	A	TCGA-CN-5358-01A-01D-1512-08	15213185	234527158	8672215	11	14886											
DHX30	22907	broad.mit.edu	37	chr3	47882464	47882464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccgacagctggtggcGtccggaacccaccatgcccc	6	5	11	19	3	0	0	0	0	0	0	1	2	1	1	7	3	4	1	7	3	1	0	rs139889547		TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr3:47882464G>A	ENST00000446256.2	+	8	919	c.347G>A	c.(346-348)cGt>cAt	p.R116H	DHX30_ENST00000348968.4_Missense_Mutation_p.R127H|DHX30_ENST00000445061.1_Missense_Mutation_p.R155H|DHX30_ENST00000457607.1_Missense_Mutation_p.R183H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	155	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGCTGGTGGCGTCCGGAACCC	0.617													7	53					0	0	0	0	A	47882464	G	A	47882464	3	1	78	1	0	0	0	0	1	0	0	0	4541	1145	40	1	493	1	DHX30	3	47882464	Missense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08		47882464	150139966	12	14887											
NISCH	11188	broad.mit.edu	37	chr3	52505975	52505975	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcctggacttcacctgTcgccttaagtaccttaaggt	9	12	7	13	1	1	0	1	0	0	0	3	1	2	1	4	2	1	1	4	2	3	4			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr3:52505975T>G	ENST00000345716.4	+	5	689	c.555T>G	c.(553-555)tgT>tgG	p.C185W	NISCH_ENST00000479054.1_Missense_Mutation_p.C185W|NISCH_ENST00000420808.2_Missense_Mutation_p.C185W|NISCH_ENST00000488380.1_Missense_Mutation_p.C185W	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	185	Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ACTTCACCTGTCGCCTTAAGT	0.617											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	64					0	0	0	0	G	52505975	T	G	52505975	3	3	78	1	0	0	0	0	1	0	0	0	10502	1673	58	5	573	5	NISCH	3	52505975	Missense_Mutation	SNP	T	TCGA-CN-5358-01A-01D-1512-08	4623511	52505975	145516455	13	14888											
FXR1	8087	broad.mit.edu	37	chr3	180666565	180666565	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagtaggagcatgcagaaTtttttaccatccagaaacaa	16	9	8	8	0	0	2	0	0	0	2	1	3	1	3	2	1	5	4	2	1	5	4			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr3:180666565T>A	ENST00000357559.4	+	6	860	c.476T>A	c.(475-477)aTt>aAt	p.I159N	FXR1_ENST00000468861.1_Missense_Mutation_p.I74N|FXR1_ENST00000445140.2_Missense_Mutation_p.I159N|FXR1_ENST00000305586.7_Missense_Mutation_p.I74N|FXR1_ENST00000491062.1_Missense_Mutation_p.I110N|FXR1_ENST00000480918.1_Missense_Mutation_p.I146N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	159					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GCATGCAGAATTTTTTACCAT	0.303													6	169					0	0	0	0	A	180666565	T	A	180666565	3	1	78	1	0	0	0	0	1	0	0	0	6163	1493	52	5	498	5	FXR1	3	180666565	Missense_Mutation	SNP	T	TCGA-CN-5358-01A-01D-1512-08	128160590	180666565	17355865	14	14889											
CPLX1	10815	broad.mit.edu	37	chr4	786392	786392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttccccatgtccttggtGgcccctggtacagaagttgg	6	12	11	12	0	1	1	0	0	1	1	3	1	3	1	5	4	1	2	5	4	2	4			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:786392G>A	ENST00000304062.6	-	3	267	c.36C>T	c.(34-36)gcC>gcT	p.A12A	CPLX1_ENST00000505203.1_Silent_p.A12A	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	12					glutamate secretion	cytosol				kidney(1)|lung(2)	3				Colorectal(103;0.187)		TGTCCTTGGTGGCCCCTGGTA	0.662													11	93					0	0	0	0	A	786392	G	A	786392	2	1	78	1	0	0	0	0	0	0	0	1	3834	1335	47	4		4	CPLX1	4	786392	Silent	SNP	G	TCGA-CN-5358-01A-01D-1512-08		786392	190367884	15	14890											
TBC1D1	23216	broad.mit.edu	37	chr4	38138875	38138875	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtcggccctgctgcagacGgtggaggagctgcggcggcg	4	5	20	12	6	0	1	0	0	0	1	1	3	0	3	1	7	4	3	1	7	0	0			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:38138875G>A	ENST00000261439.4	+	20	3781	c.3426G>A	c.(3424-3426)acG>acA	p.T1142T	TBC1D1_ENST00000508802.1_Silent_p.T1133T|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1142						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TGCTGCAGACGGTGGAGGAGC	0.642													7	60					0	0	0	0	A	38138875	G	A	38138875	2	1	78	1	0	0	0	0	0	0	0	1	15688	1103	39	1		1	TBC1D1	4	38138875	Silent	SNP	G	TCGA-CN-5358-01A-01D-1512-08	37352483	38138875	153015401	16	14891											
SHROOM3	57619	broad.mit.edu	37	chr4	77692006	77692006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcgtctagcccgtgttgaGaatgtccttagcggccttgg	5	11	15	10	3	1	1	0	1	1	1	2	2	2	1	3	3	2	1	3	3	3	4			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:77692006G>C	ENST00000296043.6	+	10	6530	c.5577G>C	c.(5575-5577)gaG>gaC	p.E1859D	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1859	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCGTGTTGAGAATGTCCTTA	0.502													6	157					0	0	0	0	C	77692006	G	C	77692006	3	2	78	1	0	0	0	0	1	0	0	0	14383	933	33	2	5615	2	SHROOM3	4	77692006	Missense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08	39553131	77692006	113462270	17	14892											
EGF	1950	broad.mit.edu	37	chr4	110834553	110834553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttagttttgttagtctctCagcaccgcagcactggagct	8	14	9	10	1	2	0	1	0	1	0	3	1	2	1	1	1	3	6	1	1	2	5			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:110834553C>T	ENST00000265171.5	+	1	507	c.62C>T	c.(61-63)tCa>tTa	p.S21L	EGF_ENST00000503392.1_Missense_Mutation_p.S21L|EGF_ENST00000509793.1_Missense_Mutation_p.S21L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	21					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GTTAGTCTCTCAGCACCGCAG	0.428													4	75					0	0	0	0	T	110834553	C	T	110834553	3	4	78	1	0	0	0	0	1	0	0	0	4998	838	29	2	64	2	EGF	4	110834553	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	33142547	110834553	80319723	18	14893											
ANK2	287	broad.mit.edu	37	chr4	114279449	114279449	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtgtagggaccaaggacctCcccaccgtgcaaacgggtga	11	5	13	12	2	0	1	0	1	0	0	1	3	1	3	5	3	2	2	5	3	3	1			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:114279449C>T	ENST00000357077.4	+	38	9728	c.9675C>T	c.(9673-9675)ctC>ctT	p.L3225L	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.L3192L|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3192					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAAGGACCTCCCCACCGTGC	0.478													10	106					0	0	0	0	T	114279449	C	T	114279449	2	4	78	1	0	0	0	0	0	0	0	1	621	842	30	2		2	ANK2	4	114279449	Silent	SNP	C	TCGA-CN-5358-01A-01D-1512-08	3444896	114279449	76874827	19	14894											
ANK2	287	broad.mit.edu	37	chr4	114279897	114279897	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagaagacagtggctcctCagggacaggacatggcaagc	12	5	13	11	0	1	2	1	0	0	2	3	4	3	4	2	4	1	2	2	4	2	0			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:114279897C>G	ENST00000357077.4	+	38	10176	c.10123C>G	c.(10123-10125)Cag>Gag	p.Q3375E	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.Q3342E|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3342					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTGGCTCCTCAGGGACAGGA	0.468													9	103					0	0	0	0	G	114279897	C	G	114279897	3	3	78	1	0	0	0	0	1	0	0	0	621	827	29	2	10338	2	ANK2	4	114279897	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	448	114279897	76874379	20	14895											
SH3D19	152503	broad.mit.edu	37	chr4	152056230	152056230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaaataaaacttacttaaCacaatgagatgaaacacatt	21	9	3	8	0	0	2	0	2	0	1	0	3	0	2	0	0	4	0	0	0	7	4			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:152056230C>A	ENST00000409598.4	-	15	2809	c.1642G>T	c.(1642-1644)Gtt>Ttt	p.V548F	SH3D19_ENST00000427414.2_Missense_Mutation_p.V512F|SH3D19_ENST00000304527.4_Missense_Mutation_p.V571F|SH3D19_ENST00000424281.1_Missense_Mutation_p.V512F|SH3D19_ENST00000514152.1_Missense_Mutation_p.V548F|SH3D19_ENST00000409252.2_Missense_Mutation_p.V571F|SH3D19_ENST00000455740.1_Missense_Mutation_p.V548F			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	571	SH3 2.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ACTTACTTAACACAATGAGAT	0.313													3	113					0.115264	0.132688	1	0	A	152056230	C	A	152056230	3	1	78	1	0	0	0	0	1	0	0	0	14336	478	17	4	685	4	SH3D19	4	152056230	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	37776333	152056230	39098046	21	14896											
RICTOR	253260	broad.mit.edu	37	chr5	38944564	38944564	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgttaaaagcccagtctCatgacatttagttgaaactg	13	12	7	9	1	2	2	2	2	1	0	3	2	2	2	1	0	2	2	1	0	4	4			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:38944564C>A	ENST00000357387.3	-	36	4927	c.4897G>T	c.(4897-4899)Gag>Tag	p.E1633*	RICTOR_ENST00000296782.5_Nonsense_Mutation_p.E1657*	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1633					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.E1633Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGCCCAGTCTCATGACATTTA	0.323													9	214					2.17888e-05	2.73049e-05	1	0	A	38944564	C	A	38944564	4	1	78	1	0	0	0	0	0	1	0	0	13441	835	29	2	241	2	RICTOR	5	38944564	Nonsense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08		38944564	141970696	22	14897											
SPZ1	84654	broad.mit.edu	37	chr5	79616171	79616171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggatcacattccccttcctCctggggctctctccctttcc	3	14	6	18	0	2	0	1	0	1	0	8	1	7	1	6	3	0	1	6	3	0	3			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:79616171C>T	ENST00000296739.4	+	1	382	c.137C>T	c.(136-138)tCc>tTc	p.S46F		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TCCCCTTCCTCCTGGGGCTCT	0.403													7	225					0	0	0	0	T	79616171	C	T	79616171	3	4	78	1	0	0	0	0	1	0	0	0	15217	855	30	2	139	2	SPZ1	5	79616171	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	40671607	79616171	101299089	23	14898											
PITX1	5307	broad.mit.edu	37	chr5	134364577	134364577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggctggctaggctcgaGttgcacgtgtcccggtagac	6	8	15	12	4	0	1	0	0	0	1	2	2	1	1	1	4	1	7	1	4	2	3			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:134364577G>C	ENST00000265340.7	-	3	1253	c.837C>G	c.(835-837)aaC>aaG	p.N279K	PITX1_ENST00000506438.1_Missense_Mutation_p.N279K	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	279	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CTAGGCTCGAGTTGCACGTGT	0.677													3	27					0	0	0	0	C	134364577	G	C	134364577	3	2	78	1	0	0	0	0	1	0	0	0	12026	1020	36	4	111	4	PITX1	5	134364577	Missense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08	54748406	134364577	46550683	24	14899											
PCDHGB2	56103	broad.mit.edu	37	chr5	140740003	140740003	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatatgcgggaagcagcctCtgtgtgttctggatttcgat	8	13	13	7	2	2	1	0	0	2	1	3	4	2	3	1	2	3	2	1	2	2	3			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:140740003C>G	ENST00000522605.1	+	1	301	c.301C>G	c.(301-303)Ctg>Gtg	p.L101V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCAGCCTCTGTGTGTTCT	0.418													9	140					0	0	0	0	G	140740003	C	G	140740003	3	3	78	1	0	0	0	0	1	0	0	0	11634	912	32	2	303	2	PCDHGB2	5	140740003	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	6375426	140740003	40175257	25	14900											
PCDHGA9	56107	broad.mit.edu	37	chr5	140784546	140784546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacatcctggctgacctggGcagtcttcagatccctgcag	8	9	11	13	0	2	3	1	1	1	2	4	3	4	3	3	2	1	3	3	2	0	1			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:140784546G>A	ENST00000573521.1	+	1	2027	c.2027G>A	c.(2026-2028)gGc>gAc	p.G676D	PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGACCTGGGCAGTCTTCAG	0.592													9	136					0	0	0	0	A	140784546	G	A	140784546	3	1	78	1	0	0	0	0	1	0	0	0	11632	1203	42	4	2029	4	PCDHGA9	5	140784546	Missense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08	44543	140784546	40130714	26	14901											
KIFC1	3833	broad.mit.edu	37	chr6	33372879	33372879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcctcctcctgtttccctCtggccctggtgggccctctg	0	13	11	17	0	2	0	0	0	2	0	5	0	5	0	6	4	0	1	6	4	0	1			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:33372879C>T	ENST00000428849.2	+	7	1457	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	336	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CTGTTTCCCTCTGGCCCTGGT	0.682													5	187					0	0	0	0	T	33372879	C	T	33372879	3	4	78	1	0	0	0	0	1	0	0	0	8363	913	32	2	1033	2	KIFC1	6	33372879	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08		33372879	137742188	27	14902											
PHF3	23469	broad.mit.edu	37	chr6	64421505	64421505	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaactgcatagacctaatCtattgttgggcttaattatt	11	17	7	6	0	1	2	0	1	1	1	1	2	1	2	1	1	2	3	1	1	6	9			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:64421505C>G	ENST00000262043.3	+	16	4361	c.4021C>G	c.(4021-4023)Cta>Gta	p.L1341V	PHF3_ENST00000393387.1_Missense_Mutation_p.L1341V			Q92576	PHF3_HUMAN	PHD finger protein 3	1341					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAGACCTAATCTATTGTTGGG	0.373													13	197					0	0	0	0	G	64421505	C	G	64421505	3	3	78	1	0	0	0	0	1	0	0	0	11908	912	32	2	4079	2	PHF3	6	64421505	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	31048626	64421505	106693562	28	14903											
MCM9	254394	broad.mit.edu	37	chr6	119238864	119238864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactatctccacttcacagcGcacatcttgctgaaagggct	10	10	8	13	1	3	1	1	1	2	0	4	2	3	1	1	1	2	3	1	1	2	3	rs142688993	byFrequency	TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:119238864G>A	ENST00000316316.6	-	5	1052	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	MCM9_ENST00000316068.3_Missense_Mutation_p.R256C	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	256					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ACTTCACAGCGCACATCTTGC	0.453													4	189					0	0	0	0	A	119238864	G	A	119238864	3	1	78	1	0	0	0	0	1	0	0	0	9463	1087	38	1	421	1	MCM9	6	119238864	Missense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08	54817359	119238864	51876203	29	14904											
SASH1	23328	broad.mit.edu	37	chr6	148855896	148855896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctctcacaggagcacatgCccactttcctgttcaatgga	9	10	7	15	0	2	0	2	0	1	0	4	2	3	2	3	2	2	2	3	2	1	2			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:148855896C>T	ENST00000367467.3	+	16	2429	c.1954C>T	c.(1954-1956)Ccc>Tcc	p.P652S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	652	SAM 1.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGAGCACATGCCCACTTTCCT	0.502													4	132					0	0	0	0	T	148855896	C	T	148855896	3	4	78	1	0	0	0	0	1	0	0	0	13934	739	26	4	2016	4	SASH1	6	148855896	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	29617032	148855896	22259171	30	14905											
RAET1G	353091	broad.mit.edu	37	chr6	150240360	150240360	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctgttttctgagtcaaaGaggaggaagatctgtccatc	11	13	10	7	0	4	3	1	1	3	2	6	5	5	5	1	2	0	1	1	2	2	3			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:150240360G>C	ENST00000367360.2	-	3	517	c.450C>G	c.(448-450)ctC>ctG	p.L150L	RP11-244K5.1_ENST00000446954.1_RNA|RP11-244K5.1_ENST00000605899.1_RNA|RAET1G_ENST00000479265.1_Silent_p.L150L|RP11-244K5.8_ENST00000606915.1_RNA	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	retinoic acid early transcript 1G	150	MHC class I alpha-2 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		CTGAGTCAAAGAGGAGGAAGA	0.493													18	183					0	0	0	0	C	150240360	G	C	150240360	2	2	78	1	0	0	0	0	0	0	0	1	13082	929	33	2		2	RAET1G	6	150240360	Silent	SNP	G	TCGA-CN-5358-01A-01D-1512-08	1384464	150240360	20874707	31	14906											
ESR1	2099	broad.mit.edu	37	chr6	152163869	152163869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgcttcaggctaccattAtggagtctggtcctgtgagg	7	13	12	9	0	2	1	1	1	1	0	3	2	3	2	2	4	2	2	2	4	3	4			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:152163869A>G	ENST00000440973.1	+	4	960	c.590A>G	c.(589-591)tAt>tGt	p.Y197C	ESR1_ENST00000456483.2_Missense_Mutation_p.Y197C|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000206249.3_Missense_Mutation_p.Y197C|ESR1_ENST00000443427.1_Missense_Mutation_p.Y197C|ESR1_ENST00000338799.5_Missense_Mutation_p.Y197C|ESR1_ENST00000544394.1_Missense_Mutation_p.Y24C	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	197	Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GGCTACCATTATGGAGTCTGG	0.453													8	99					0	0	0	0	G	152163869	A	G	152163869	3	3	78	1	0	0	0	0	1	0	0	0	5294	449	16	5	596	5	ESR1	6	152163869	Missense_Mutation	SNP	A	TCGA-CN-5358-01A-01D-1512-08	1923509	152163869	18951198	32	14907											
TYW1B	441250	broad.mit.edu	37	chr7	72040531	72040531	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttctctgatgtcttgtGtccttgggatcaaagcttct	5	19	8	9	0	5	1	1	1	4	0	7	2	6	2	1	1	1	1	1	1	1	5			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:72040531G>T	ENST00000438125.1	-	0	1399							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GATGTCTTGTGTCCTTGGGAT	0.408													5	101					0.00116845	0.00139369	1	0	T	72040531	G	T	72040531	1	4	78	0	1	0	0	0	0	0	0	0	16915	1368	48	4		4	TYW1B	7	72040531	RNA	SNP	G	TCGA-CN-5358-01A-01D-1512-08		72040531	87098132	33	14908											
MAGI2	9863	broad.mit.edu	37	chr7	77885568	77885568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacgggcggtggatacgtgCcgtctagctgaccatcagtt	7	9	15	10	4	2	1	1	1	1	0	2	3	2	3	2	4	3	2	2	4	2	3			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:77885568C>A	ENST00000354212.4	-	10	1992	c.1739G>T	c.(1738-1740)gGc>gTc	p.G580V	MAGI2_ENST00000522391.1_Missense_Mutation_p.G580V|MAGI2_ENST00000536571.1_Missense_Mutation_p.G412V|MAGI2_ENST00000535697.1_Missense_Mutation_p.G417V|MAGI2_ENST00000419488.1_Missense_Mutation_p.G580V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	580						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGATACGTGCCGTCTAGCTG	0.507													4	60					0.000602214	0.000727064	1	0	A	77885568	C	A	77885568	3	1	78	1	0	0	0	0	1	0	0	0	9260	739	26	4	2680	4	MAGI2	7	77885568	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	5845037	77885568	81253095	34	14909											
PCLO	27445	broad.mit.edu	37	chr7	82785433	82785433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctgatatcaaatcaaaaGggttgaatttatttacaaca	17	13	6	5	0	3	2	2	2	1	0	3	2	3	2	0	1	2	1	0	1	8	6			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:82785433G>T	ENST00000423517.2	-	2	861	c.524C>A	c.(523-525)cCt>cAt	p.P175H	PCLO_ENST00000333891.8_Missense_Mutation_p.P175H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	175					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAAATCAAAAGGGTTGAATTT	0.398													5	70					0.184627	0.207706	1	0	T	82785433	G	T	82785433	3	4	78	1	0	0	0	0	1	0	0	0	11654	1000	35	4	15017	4	PCLO	7	82785433	Missense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08	4899865	82785433	76353230	35	14910											
ZNF804B	219578	broad.mit.edu	37	chr7	88964688	88964688	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaaaatgaaaaatactcaAaacgtagatattgtcactgc	19	11	5	6	1	2	2	2	1	0	1	2	2	2	2	0	0	3	1	0	0	10	5			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:88964688A>T	ENST00000333190.4	+	4	3001	c.2392A>T	c.(2392-2394)Aaa>Taa	p.K798*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	798						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAAATACTCAAAACGTAGATA	0.348										HNSCC(36;0.09)			9	72					0	0	0	0	T	88964688	A	T	88964688	4	4	78	1	0	0	0	0	0	1	0	0	18264	15	1	5	2406	5	ZNF804B	7	88964688	Nonsense_Mutation	SNP	A	TCGA-CN-5358-01A-01D-1512-08	6179255	88964688	70173975	36	14911											
SAMD9L	219285	broad.mit.edu	37	chr7	92761232	92761232	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatggtggtagcatctttGtagtttggattaagatattc	9	17	10	5	0	1	1	0	0	1	1	3	2	2	2	1	3	1	4	1	3	4	7			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:92761232G>T	ENST00000318238.4	-	5	5269	c.4053C>A	c.(4051-4053)taC>taA	p.Y1351*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.Y1351*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.Y1351*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1351										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TAGCATCTTTGTAGTTTGGAT	0.388													40	232					5.59293e-11	7.19091e-11	1	0	T	92761232	G	T	92761232	4	4	78	1	0	0	0	0	0	1	0	0	13912	1372	48	4	705	4	SAMD9L	7	92761232	Nonsense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08	3796544	92761232	66377431	37	14912											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432666	117432666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcttccagtttggccattAcgtcttcgagcttctgggcc	4	14	9	14	2	3	0	0	0	3	0	5	1	4	0	4	2	2	2	4	2	1	5			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:117432666A>G	ENST00000160373.3	-	4	675	c.584T>C	c.(583-585)gTa>gCa	p.V195A	CTTNBP2_ENST00000487820.1_5'UTR	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	195										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTTGGCCATTACGTCTTCGAG	0.483													3	159					0	0	0	0	G	117432666	A	G	117432666	3	3	78	1	0	0	0	0	1	0	0	0	4077	391	14	5	4487	5	CTTNBP2	7	117432666	Missense_Mutation	SNP	A	TCGA-CN-5358-01A-01D-1512-08	24671434	117432666	41705997	38	14913											
GNE	10020	broad.mit.edu	37	chr9	36227321	36227321	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttagagtttcaagaataTggtcaatatcttgagagata	15	13	8	5	0	3	4	2	1	1	3	3	5	3	4	0	1	0	1	0	1	7	6			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr9:36227321T>C	ENST00000396594.3	-	7	1409	c.1298A>G	c.(1297-1299)cAt>cGt	p.H433R	GNE_ENST00000539815.1_Missense_Mutation_p.H402R|GNE_ENST00000377902.5_Missense_Mutation_p.H402R|GNE_ENST00000539208.1_Missense_Mutation_p.H292R|GNE_ENST00000447283.2_Missense_Mutation_p.H402R|GNE_ENST00000543356.2_Missense_Mutation_p.H397R	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	402	N-acetylmannosamine kinase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TTCAAGAATATGGTCAATATC	0.408													7	102					0	0	0	0	C	36227321	T	C	36227321	3	2	78	1	0	0	0	0	1	0	0	0	6573	1464	51	5	987	5	GNE	9	36227321	Missense_Mutation	SNP	T	TCGA-CN-5358-01A-01D-1512-08		36227321	104986110	39	14914											
PAPSS2	9060	broad.mit.edu	37	chr10	89472868	89472868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaacaacgataagttttgCcctggaggagtaccttgtct	13	11	9	8	1	1	0	0	0	1	0	1	3	1	2	2	2	4	2	2	2	5	5			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr10:89472868C>T	ENST00000361175.4	+	3	551	c.182C>T	c.(181-183)gCc>gTc	p.A61V	PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000427144.2_Missense_Mutation_p.A65V|PAPSS2_ENST00000456849.1_Missense_Mutation_p.A61V	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	61					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ATAAGTTTTGCCCTGGAGGAG	0.473													5	281					0	0	0	0	T	89472868	C	T	89472868	3	4	78	1	0	0	0	0	1	0	0	0	11506	739	26	4	192	4	PAPSS2	10	89472868	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08		89472868	46061879	40	14915											
TNKS2	80351	broad.mit.edu	37	chr10	93602119	93602119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaattgccgcgatacccaagGcagacattcaacacctttac	14	8	6	13	2	1	1	1	0	0	1	1	2	1	1	3	1	4	1	3	1	5	5			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr10:93602119G>A	ENST00000371627.4	+	16	2409	c.2030G>A	c.(2029-2031)gGc>gAc	p.G677D		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	677					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GATACCCAAGGCAGACATTCA	0.403													5	104					0	0	0	0	A	93602119	G	A	93602119	3	1	78	1	0	0	0	0	1	0	0	0	16415	1203	42	4	2092	4	TNKS2	10	93602119	Missense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08	4129251	93602119	41932628	41	14916											
PDCD11	22984	broad.mit.edu	37	chr10	105176373	105176373	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtctgcagacacatggcttCatcatcagggtcaaggacta	11	9	11	10	0	5	1	4	0	1	1	5	2	5	2	0	4	1	2	0	4	2	2			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr10:105176373C>T	ENST00000369797.3	+	13	1738	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	548	S1 motif 6.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CACATGGCTTCATCATCAGGG	0.488											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	131					0	0	0	0	T	105176373	C	T	105176373	2	4	78	1	0	0	0	0	0	0	0	1	11688	825	29	2		2	PDCD11	10	105176373	Silent	SNP	C	TCGA-CN-5358-01A-01D-1512-08	11574254	105176373	30358374	42	14917											
C11orf54	28970	broad.mit.edu	37	chr11	93488478	93488478	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagggtgcctactggagaaaTacagtgagaaatgtcatgat	14	9	13	5	0	1	3	1	2	0	2	1	6	1	3	1	2	3	0	1	2	4	2			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr11:93488478T>G	ENST00000528288.1	+	6	668	c.433T>G	c.(433-435)Tac>Gac	p.Y145D	C11orf54_ENST00000354421.3_Missense_Mutation_p.Y145D|C11orf54_ENST00000528099.1_Missense_Mutation_p.Y145D|C11orf54_ENST00000331239.4_Missense_Mutation_p.Y145D|C11orf54_ENST00000540113.1_Missense_Mutation_p.Y126D	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	145						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACTGGAGAAATACAGTGAGAA	0.423													4	105					0	0	0	0	G	93488478	T	G	93488478	3	3	78	1	0	0	0	0	1	0	0	0	1660	1406	49	5	451	5	C11orf54	11	93488478	Missense_Mutation	SNP	T	TCGA-CN-5358-01A-01D-1512-08		93488478	41518038	43	14918											
OR8D4	338662	broad.mit.edu	37	chr11	123777472	123777472	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttgtgttatttctgaaTgctacatgctggcagccatg	7	16	11	7	0	1	1	0	1	1	0	1	1	1	1	1	1	4	5	1	1	3	4	rs139359205		TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr11:123777472T>A	ENST00000321355.2	+	1	364	c.334T>A	c.(334-336)Tgc>Agc	p.C112S		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TATTTCTGAATGCTACATGCT	0.478													11	249					0	0	0	0	A	123777472	T	A	123777472	3	1	78	1	0	0	0	0	1	0	0	0	11304	1464	51	5	336	5	OR8D4	11	123777472	Missense_Mutation	SNP	T	TCGA-CN-5358-01A-01D-1512-08	30288994	123777472	11229044	44	14919											
ESYT1	23344	broad.mit.edu	37	chr12	56527377	56527377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcaatttcttctagtggttCcctctacaaggtgggcaagg	8	13	10	10	0	4	0	1	0	3	0	5	0	5	0	1	4	1	2	1	4	5	5			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr12:56527377C>T	ENST00000394048.5	+	12	1563	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	ESYT1_ENST00000541590.1_Silent_p.F433F|ESYT1_ENST00000267113.4_Silent_p.F433F	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	433						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TCTAGTGGTTCCCTCTACAAG	0.458													6	100					0	0	0	0	T	56527377	C	T	56527377	2	4	78	1	0	0	0	0	0	0	0	1	5302	854	30	2		2	ESYT1	12	56527377	Silent	SNP	C	TCGA-CN-5358-01A-01D-1512-08		56527377	77324518	45	14920											
PITPNM2	57605	broad.mit.edu	37	chr12	123498545	123498545	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacggccggttctccaggatCtccacgccgctgccttcgcc	4	9	10	18	5	2	0	0	0	2	0	5	1	2	1	6	3	2	2	6	3	1	3			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr12:123498545C>G	ENST00000280562.5	-	3	328	c.123G>C	c.(121-123)gaG>gaC	p.E41D	PITPNM2_ENST00000320201.4_Missense_Mutation_p.E41D|PITPNM2_ENST00000546049.1_Missense_Mutation_p.E41D|PITPNM2_ENST00000542749.1_Missense_Mutation_p.E41D|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000392428.1_Missense_Mutation_p.E41D			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	41					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TCTCCAGGATCTCCACGCCGC	0.587													4	108					0	0	0	0	G	123498545	C	G	123498545	3	3	78	1	0	0	0	0	1	0	0	0	12023	912	32	2	4018	2	PITPNM2	12	123498545	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	66971168	123498545	10353350	46	14921											
HMGB1	3146	broad.mit.edu	37	chr13	31037677	31037677	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccctcttaccttccacctCtctgagcacttcttagaaaa	10	12	4	15	0	3	2	0	1	3	1	5	2	4	2	4	0	3	1	4	0	4	4			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr13:31037677C>G	ENST00000405805.1	-	2	1081	c.141G>C	c.(139-141)gaG>gaC	p.E47D	HMGB1_ENST00000326004.4_Missense_Mutation_p.E47D|HMGB1_ENST00000399494.1_Missense_Mutation_p.E47D|HMGB1_ENST00000399489.1_Missense_Mutation_p.E47D|HMGB1_ENST00000341423.5_Missense_Mutation_p.E47D|HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000339872.4_Missense_Mutation_p.E47D			P09429	HMGB1_HUMAN	high mobility group box 1	47					base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CCTTCCACCTCTCTGAGCACT	0.408													5	243					0	0	0	0	G	31037677	C	G	31037677	3	3	78	1	0	0	0	0	1	0	0	0	7275	912	32	2	522	2	HMGB1	13	31037677	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08		31037677	84132201	47	14922											
HMGB1	3146	broad.mit.edu	37	chr13	31037728	31037728	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgactgaagcatctgggtgCttcttcttatgctcctcccg	5	15	9	12	1	3	2	0	2	3	0	5	2	5	2	2	1	3	3	2	1	2	4			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr13:31037728C>T	ENST00000405805.1	-	2	1030	c.90G>A	c.(88-90)aaG>aaA	p.K30K	HMGB1_ENST00000326004.4_Silent_p.K30K|HMGB1_ENST00000399494.1_Silent_p.K30K|HMGB1_ENST00000399489.1_Silent_p.K30K|HMGB1_ENST00000341423.5_Silent_p.K30K|HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000339872.4_Silent_p.K30K			P09429	HMGB1_HUMAN	high mobility group box 1	30					base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CATCTGGGTGCTTCTTCTTAT	0.408													6	196					0	0	0	0	T	31037728	C	T	31037728	2	4	78	1	0	0	0	0	0	0	0	1	7275	796	28	4		4	HMGB1	13	31037728	Silent	SNP	C	TCGA-CN-5358-01A-01D-1512-08	51	31037728	84132150	48	14923											
RNASE11	122651	broad.mit.edu	37	chr14	21052160	21052160	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtttgcctgtagtgaactgGcacactgtattttccagttc	7	16	9	9	0	0	1	0	1	0	0	2	1	1	1	2	1	2	5	2	1	3	6			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr14:21052160G>T	ENST00000335950.4	-	3	936	c.474C>A	c.(472-474)tgC>tgA	p.C158*	RNASE11_ENST00000432835.2_Nonsense_Mutation_p.C158*|RNASE11_ENST00000555841.1_Nonsense_Mutation_p.C158*|RNASE11_ENST00000398008.2_Nonsense_Mutation_p.C158*|RNASE11_ENST00000398009.2_Nonsense_Mutation_p.C158*|RNASE11_ENST00000553849.1_Nonsense_Mutation_p.C158*	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	158						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TAGTGAACTGGCACACTGTAT	0.488													9	85					0.00448238	0.00528281	1	0	T	21052160	G	T	21052160	4	4	78	1	0	0	0	0	0	1	0	0	13486	1195	42	4	129	4	RNASE11	14	21052160	Nonsense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08		21052160	86297380	49	14924											
PLCB2	5330	broad.mit.edu	37	chr15	40591135	40591135	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatttggtcaggtgctcCttcgtcatgtagggtttggc	6	15	13	7	1	2	1	2	1	0	0	4	1	3	1	1	4	1	3	1	4	2	4			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr15:40591135C>T	ENST00000260402.3	-	9	963	c.714G>A	c.(712-714)aaG>aaA	p.K238K	PLCB2_ENST00000456256.2_Silent_p.K238K|PLCB2_ENST00000557821.1_Silent_p.K238K	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	238					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCAGGTGCTCCTTCGTCATGT	0.577													9	164					0	0	0	0	T	40591135	C	T	40591135	2	4	78	1	0	0	0	0	0	0	0	1	12100	680	24	4		4	PLCB2	15	40591135	Silent	SNP	C	TCGA-CN-5358-01A-01D-1512-08		40591135	61940257	50	14925											
DNAH3	55567	broad.mit.edu	37	chr16	21136514	21136514	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actttgtgtatcatgaaaagGgaaacgaggtcctcaagtga	14	10	11	6	1	2	2	2	2	0	0	3	4	3	3	1	2	1	1	1	2	5	2			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr16:21136514G>A	ENST00000261383.3	-	9	1385	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	DNAH3_ENST00000415178.1_Silent_p.S462S|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	462	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATGAAAAGGGAAACGAGGT	0.453													8	113					0	0	0	0	A	21136514	G	A	21136514	2	1	78	1	0	0	0	0	0	0	0	1	4640	1219	43	4		4	DNAH3	16	21136514	Silent	SNP	G	TCGA-CN-5358-01A-01D-1512-08		21136514	69218239	51	14926											
TP53	7157	broad.mit.edu	37	chr17	7578222	7578223	+	Frame_Shift_Del	DEL	TC	TC	-																															acactatgtcgaaaagtgttTctgtcatccaaatactccac																										TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr17:7578222_7578223delTC	ENST00000420246.2	-	6	758_759	c.626_627delGA	c.(625-627)afs	p.R209fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	209	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAAAAGTGTTTCTGTCATCCAA	0.535		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	87	---	---	---	---					-	7578223	TC	-	7578222	7	5	78	1	0	1	0	1	0	0	0	0	16476	1780	62	0	667	0	TP53	17	7578222	Frame_Shift_Del	DEL	TC	TCGA-CN-5358-01A-01D-1512-08		7578222	73616988	52	14927											
SLFN12L	100506736	broad.mit.edu	37	chr17	33806816	33806816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaaactggagctcaacgtgGcaatctgcggaccagaggtt	12	7	12	10	2	2	1	1	0	1	1	2	3	2	3	1	4	4	3	1	4	3	1			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr17:33806816G>A	ENST00000260908.7	-	2	530	c.413C>T	c.(412-414)gCc>gTc	p.A138V	SLFN12L_ENST00000449046.1_Missense_Mutation_p.A169V|SLFN12L_ENST00000361112.4_Missense_Mutation_p.A167V	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	170						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GCTCAACGTGGCAATCTGCGG	0.433													3	35					0	0	0	0	A	33806816	G	A	33806816	3	1	78	1	0	0	0	0	1	0	0	0	14823	1203	42	4	1365	4	SLFN12L	17	33806816	Missense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08	26228594	33806816	47388394	53	14928											
OR4D2	124538	broad.mit.edu	37	chr17	56247483	56247483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggaggctttgtccactCtattgtccagctggctctga	5	13	13	10	0	2	1	0	1	2	0	4	2	4	2	2	4	1	3	2	4	1	3			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr17:56247483C>A	ENST00000545221.1	+	1	467	c.467C>A	c.(466-468)tCt>tAt	p.S156Y		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TTTGTCCACTCTATTGTCCAG	0.567													12	120					3.07112e-06	3.89796e-06	1	0	A	56247483	C	A	56247483	3	1	78	1	0	0	0	0	1	0	0	0	11127	913	32	2	469	2	OR4D2	17	56247483	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	22440667	56247483	24947727	54	14929											
ACTG1	71	broad.mit.edu	37	chr17	79478103	79478103	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttcatgatggagttgaaGgtggtctcgtggatgccgca	8	11	14	8	2	2	2	1	2	1	0	3	4	2	4	1	4	1	2	1	4	1	2	rs140289614		TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr17:79478103G>T	ENST00000575842.1	-	4	1260	c.834C>A	c.(832-834)acC>acA	p.T278T	ACTG1_ENST00000573283.1_Silent_p.T278T|ACTG1_ENST00000575087.1_Silent_p.T278T|ACTG1_ENST00000331925.2_Silent_p.T278T|AC139149.1_ENST00000584254.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	278			T -> I (in DFNA20; dbSNP:rs28999112).		adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGGAGTTGAAGGTGGTCTCGT	0.552													9	150					0.0135373	0.015767	1	0	T	79478103	G	T	79478103	2	4	78	1	0	0	0	0	0	0	0	1	196	987	35	4		4	ACTG1	17	79478103	Silent	SNP	G	TCGA-CN-5358-01A-01D-1512-08	23230620	79478103	1717107	55	14930											
ZNF676	163223	broad.mit.edu	37	chr19	22363822	22363822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattgaggatcgattaaaagCtttgccacattcttcacatt	12	14	7	8	1	2	1	1	1	1	0	3	4	2	2	1	1	2	1	1	1	2	6			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:22363822C>T	ENST00000397121.2	-	3	1014	c.697G>A	c.(697-699)Gct>Act	p.A233T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CGATTAAAAGCTTTGCCACAT	0.363													11	179					0	0	0	0	T	22363822	C	T	22363822	3	4	78	1	0	0	0	0	1	0	0	0	18178	797	28	4	1073	4	ZNF676	19	22363822	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08		22363822	36765161	56	14931											
DPY19L3	147991	broad.mit.edu	37	chr19	32923652	32923652	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaaatctcattcagaacaGagtgtggcctgtattactcc	12	11	9	9	0	2	3	2	0	1	3	4	4	3	3	2	1	2	1	2	1	4	3			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:32923652G>C	ENST00000342179.5	+	4	483	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	DPY19L3_ENST00000392250.2_Missense_Mutation_p.E90Q|DPY19L3_ENST00000586987.1_Missense_Mutation_p.E90Q	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	90						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					ATTCAGAACAGAGTGTGGCCT	0.408													6	86					0	0	0	0	C	32923652	G	C	32923652	3	2	78	1	0	0	0	0	1	0	0	0	4778	943	33	2	278	2	DPY19L3	19	32923652	Missense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08	10559830	32923652	26205331	57	14932											
ZFP30	22835	broad.mit.edu	37	chr19	38126325	38126325	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaccagtatgtattctctGatggagagttagatgatagc	11	14	10	6	0	2	4	1	2	1	2	3	5	2	4	1	1	1	3	1	1	4	6			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:38126325G>C	ENST00000351218.2	-	6	1674	c.1117C>G	c.(1117-1119)Cag>Gag	p.Q373E	ZFP30_ENST00000392144.1_Missense_Mutation_p.Q373E|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.Q373E	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTATTCTCTGATGGAGAGTT	0.408													4	137					0	0	0	0	C	38126325	G	C	38126325	3	2	78	1	0	0	0	0	1	0	0	0	17739	1299	45	2	446	2	ZFP30	19	38126325	Missense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08	5202673	38126325	21002658	58	14933											
ACTN4	81	broad.mit.edu	37	chr19	39200969	39200969	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcttctaccatgccttttCaggagcgcagaaggtaccga	10	9	10	12	2	2	1	1	0	1	1	2	3	2	2	3	2	5	3	3	2	3	5			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:39200969C>G	ENST00000252699.2	+	8	882	c.806C>G	c.(805-807)tCa>tGa	p.S269*	ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	269	Actin-binding.|CH 2.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CATGCCTTTTCAGGAGCGCAG	0.607													4	218					0	0	0	0	G	39200969	C	G	39200969	4	3	78	1	0	0	0	0	0	1	0	0	207	838	29	2	836	2	ACTN4	19	39200969	Nonsense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	1074644	39200969	19928014	59	14934											
CACNG8	59283	broad.mit.edu	37	chr19	54466602	54466602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgacgggaccccccaccgcgGgggcggcggcgcctcggaga	5	1	18	17	8	0	1	0	0	0	1	1	4	0	2	5	6	0	0	5	6	0	0			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:54466602G>A	ENST00000270458.2	+	1	309	c.206G>A	c.(205-207)gGg>gAg	p.G69E		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	69					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CCCCACCGCGGGGGCGGCGGC	0.716													3	14					0	0	0	0	A	54466602	G	A	54466602	3	1	78	1	0	0	0	0	1	0	0	0	2588	1232	43	4	208	4	CACNG8	19	54466602	Missense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08	15265633	54466602	4662381	60	14935											
LILRB1	10859	broad.mit.edu	37	chr19	55085362	55085362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccatgacccccatcctcaCggtcctgatctgtctcggtg	5	10	9	17	3	3	2	1	2	2	0	6	2	5	2	5	2	0	0	5	2	0	0	rs145704089	byFrequency	TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:55085362C>T	ENST00000396321.2	+	1	17	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LILRA2_ENST00000391738.3_Missense_Mutation_p.T6M|LILRB1_ENST00000448689.1_Missense_Mutation_p.T6M|LILRA2_ENST00000251376.3_Missense_Mutation_p.T6M|LILRA2_ENST00000495786.1_Intron|LILRB1_ENST00000418536.2_Missense_Mutation_p.T6M|LILRA2_ENST00000251377.3_Missense_Mutation_p.T6M|LILRA2_ENST00000391737.1_Missense_Mutation_p.T6M			Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	6					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCATCCTCACGGTCCTGATC	0.602										HNSCC(37;0.09)			13	159					0	0	0	0	T	55085362	C	T	55085362	3	4	78	1	0	0	0	0	1	0	0	0	8844	536	19	1		1	LILRB1	19	55085362	Missense_Mutation	SNP	C	TCGA-CN-5358-01A-01D-1512-08	618760	55085362	4043621	61	14936											
NEURL2	140825	broad.mit.edu	37	chr20	44519216	44519216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggttccacgaggagggttgGaggtcggctgggggccgctg	4	8	21	8	3	0	0	0	0	0	0	2	3	1	2	2	8	0	4	2	8	0	2			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr20:44519216G>C	ENST00000372518.4	-	1	710	c.415C>G	c.(415-417)Cca>Gca	p.P139A		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	139	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				AGGAGGGTTGGAGGTCGGCTG	0.697													6	54					0	0	0	0	C	44519216	G	C	44519216	3	2	78	1	0	0	0	0	1	0	0	0	10416	1174	41	2	450	2	NEURL2	20	44519216	Missense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08		44519216	18506304	62	14937											
CELSR1	9620	broad.mit.edu	37	chr22	46777939	46777939	+	Frame_Shift_Del	DEL	G	G	-																															ccggccagccggcctcagcaGggggccttctgcaatgtgag																										TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr22:46777939delG	ENST00000262738.3	-	21	6891	c.6892delC	c.(6892-6894)tgfs	p.L2299fs		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2299					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCCTCAGCAGGGGGCCTTCT	0.667													2	4	---	---	---	---					-	46777939	G	-	46777939	7	5	78	1	0	1	0	1	0	0	0	0	3250	991	35	0	2212	0	CELSR1	22	46777939	Frame_Shift_Del	DEL	G	TCGA-CN-5358-01A-01D-1512-08		46777939	4526627	63	14938											
USP9X	8239	broad.mit.edu	37	chrX	41000632	41000632	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgtatcatactatactcAtcgacatggtaatcctgagg	12	13	8	8	1	2	1	2	1	0	0	4	2	3	1	1	2	2	2	1	2	6	6			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chrX:41000632A>G	ENST00000324545.7	+	9	1742	c.1109A>G	c.(1108-1110)cAt>cGt	p.H370R	USP9X_ENST00000378308.2_Missense_Mutation_p.H370R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	370					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TACTATACTCATCGACATGGT	0.353													7	33					0	0	0	0	G	41000632	A	G	41000632	3	3	78	1	0	0	0	0	1	0	0	0	17186	217	8	5	1139	5	USP9X	23	41000632	Missense_Mutation	SNP	A	TCGA-CN-5358-01A-01D-1512-08		41000632	114269928	64	14939											
CACNA1F	778	broad.mit.edu	37	chrX	49065126	49065126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagccccggcgagctgaggGctgggagaccatcgtggcct	6	5	18	12	3	0	2	0	1	0	1	1	5	0	3	4	5	2	2	4	5	0	0			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chrX:49065126G>A	ENST00000376265.2	-	43	5066	c.5005C>T	c.(5005-5007)Ccc>Tcc	p.P1669S	CACNA1F_ENST00000323022.5_Missense_Mutation_p.P1658S|CACNA1F_ENST00000376251.1_Missense_Mutation_p.P1604S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1669					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CGAGCTGAGGGCTGGGAGACC	0.567													3	55					0	0	0	0	A	49065126	G	A	49065126	3	1	78	1	0	0	0	0	1	0	0	0	2568	1203	42	4	952	4	CACNA1F	23	49065126	Missense_Mutation	SNP	G	TCGA-CN-5358-01A-01D-1512-08	8064494	49065126	106205434	65	14940											
CAMTA1	23261	broad.mit.edu	37	chr1	7805922	7805922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtgcatataacgagcCtctaaccccttcttctaata	13	11	5	12	1	3	1	0	0	3	1	3	2	3	1	3	0	4	1	3	0	6	7			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:7805922C>G	ENST00000303635.7	+	18	4595	c.4388C>G	c.(4387-4389)cCt>cGt	p.P1463R	CAMTA1_ENST00000439411.2_Intron|CAMTA1_ENST00000476864.1_Missense_Mutation_p.P27R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TATAACGAGCCTCTAACCCCT	0.458			T	WWTR1	epitheliod hemangioendothelioma								40	247					0	0	0	0	G	7805922	C	G	7805922	3	3	79	1	0	0	0	0	1	0	0	0	2638	681	24	4	4458	4	CAMTA1	1	7805922	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08		7805922	241444699	1	14941											
GRHL3	57822	broad.mit.edu	37	chr1	24669215	24669215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgcgcgatgacgagcGgaagcagttccggaggaagg	12	4	18	7	5	0	2	0	1	0	1	1	8	1	5	1	4	3	2	1	4	3	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:24669215G>A	ENST00000361548.4	+	10	1468	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	GRHL3_ENST00000350501.5_Missense_Mutation_p.R413Q|GRHL3_ENST00000342072.4_Missense_Mutation_p.R320Q|GRHL3_ENST00000356046.2_Missense_Mutation_p.R367Q|GRHL3_ENST00000236255.4_Missense_Mutation_p.R418Q	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	413					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R418Q(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GATGACGAGCGGAAGCAGTTC	0.627													16	191					0	0	0	0	A	24669215	G	A	24669215	3	1	79	1	0	0	0	0	1	0	0	0	6815	1116	39	1	1312	1	GRHL3	1	24669215	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	16863293	24669215	224581406	2	14942											
RCC1	1104	broad.mit.edu	37	chr1	28862414	28862414	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccccaagtgtgtgatgctGaaatccaggggaagccgggg	9	7	16	9	1	0	2	0	2	0	0	2	3	2	3	4	4	2	1	4	4	3	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:28862414G>A	ENST00000373833.6	+	10	978	c.693G>A	c.(691-693)ctG>ctA	p.L231L	RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000398958.2_Silent_p.L231L|RCC1_ENST00000373832.1_Silent_p.L231L|RCC1_ENST00000373831.3_Silent_p.L262L			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	231					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTGATGCTGAAATCCAGGG	0.562													24	261					0	0	0	0	A	28862414	G	A	28862414	2	1	79	1	0	0	0	0	0	0	0	1	13255	1277	45	2		2	RCC1	1	28862414	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	4193199	28862414	220388207	3	14943											
PTPRF	5792	broad.mit.edu	37	chr1	44084958	44084958	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgagcccgtgtcctgcaGcgcgggcgtgggccgcaccg	4	5	17	15	6	0	1	0	1	0	0	1	1	1	1	4	2	4	3	4	2	0	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:44084958G>T	ENST00000359947.4	+	28	4986		c.e28-1		PTPRF_ENST00000496447.1_Splice_Site|PTPRF_ENST00000422171.2_Splice_Site|PTPRF_ENST00000438120.1_Splice_Site|PTPRF_ENST00000372414.3_Splice_Site|PTPRF_ENST00000372413.3_Splice_Site	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGTCCTGCAGCGCGGGCGTG	0.652													5	36					0.014758	0.0157642	1	0	T	44084958	G	T	44084958	5	4	79	1	0	0	0	0	0	0	1	0	12883	985	34	4	4748	4	PTPRF	1	44084958	Splice_Site	SNP	G	TCGA-CN-5359-01A-01D-1434-08	15222544	44084958	205165663	4	14944											
NRD1	4898	broad.mit.edu	37	chr1	52289446	52289446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggctcatgcttgagcGtctcagcatttcctataaaa	9	15	7	10	1	3	1	2	1	2	0	5	1	4	1	1	1	3	3	1	1	3	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:52289446G>A	ENST00000354831.7	-	9	1442	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M	NRD1_ENST00000352171.7_Missense_Mutation_p.T350M|NRD1_ENST00000544028.1_Missense_Mutation_p.T218M|NRD1_ENST00000539524.1_Missense_Mutation_p.T286M|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	349					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATGCTTGAGCGTCTCAGCATT	0.313													6	84					0	0	0	0	A	52289446	G	A	52289446	3	1	79	1	0	0	0	0	1	0	0	0	10716	1145	40	1	2506	1	NRD1	1	52289446	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	8204488	52289446	196961175	5	14945											
LRRC42	115353	broad.mit.edu	37	chr1	54417937	54417937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggtactccgccaaatccCtcttcagccttgtcctgggt	5	13	8	15	2	2	0	1	0	1	0	6	0	5	0	5	2	2	1	5	2	2	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:54417937C>T	ENST00000371370.3	+	3	786	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	LRRC42_ENST00000319223.4_Missense_Mutation_p.L89F	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	89										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CGCCAAATCCCTCTTCAGCCT	0.483													13	168					0	0	0	0	T	54417937	C	T	54417937	3	4	79	1	0	0	0	0	1	0	0	0	9064	681	24	4	267	4	LRRC42	1	54417937	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	2128491	54417937	194832684	6	14946											
BCL10	8915	broad.mit.edu	37	chr1	85733597	85733597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagagaaattactctcatCtgaatttgatctggagaggt	12	14	9	6	0	4	4	2	2	3	2	5	6	4	4	0	2	1	0	0	2	3	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:85733597C>T	ENST00000370580.1	-	3	1152	c.415G>A	c.(415-417)Gat>Aat	p.D139N		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	139					apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		TTACTCTCATCTGAATTTGAT	0.388			T	IGH@	MALT								28	184					0	0	0	0	T	85733597	C	T	85733597	3	4	79	1	0	0	0	0	1	0	0	0	1366	913	32	2	290	2	BCL10	1	85733597	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	31315660	85733597	163517024	7	14947											
UBAP2L	9898	broad.mit.edu	37	chr1	154199771	154199771	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctaggccactgcagaacAaattagacttgcacagatga	14	9	8	10	0	0	4	0	1	0	3	1	4	1	4	2	1	3	2	2	1	4	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:154199771A>C	ENST00000428931.1	+	3	271	c.104A>C	c.(103-105)cAa>cCa	p.Q35P	UBAP2L_ENST00000271877.7_Missense_Mutation_p.Q35P|UBAP2L_ENST00000361546.2_Missense_Mutation_p.Q35P|UBAP2L_ENST00000343815.6_Missense_Mutation_p.Q35P	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	35					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACTGCAGAACAAATTAGACTT	0.418													17	187					0	0	0	0	C	154199771	A	C	154199771	3	2	79	1	0	0	0	0	1	0	0	0	16934	130	5	5	110	5	UBAP2L	1	154199771	Missense_Mutation	SNP	A	TCGA-CN-5359-01A-01D-1434-08	68466174	154199771	95050850	8	14948											
OR10J3	441911	broad.mit.edu	37	chr1	159283758	159283758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcttctgaccttcagctGaggcaatcttaagaatggtg	9	13	9	10	0	4	3	1	2	3	1	4	3	4	3	2	2	1	2	2	2	3	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:159283758G>A	ENST00000332217.5	-	1	691	c.692C>T	c.(691-693)tCa>tTa	p.S231L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ACCTTCAGCTGAGGCAATCTT	0.493													38	138					0	0	0	0	A	159283758	G	A	159283758	3	1	79	1	0	0	0	0	1	0	0	0	10982	1294	45	2	299	2	OR10J3	1	159283758	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	5083987	159283758	89966863	9	14949											
SLAMF8	56833	broad.mit.edu	37	chr1	159802746	159802746	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaagacctgccaggttttcTtgtcctgttgggcccccaac	6	11	9	15	0	1	1	0	0	1	1	2	1	2	1	6	2	2	2	6	2	2	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:159802746T>A	ENST00000289707.5	+	3	597	c.448T>A	c.(448-450)Ttg>Atg	p.L150M	SLAMF8_ENST00000368104.4_Missense_Mutation_p.L41M|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	150	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CCAGGTTTTCTTGTCCTGTTG	0.532													15	148					0	0	0	0	A	159802746	T	A	159802746	3	1	79	1	0	0	0	0	1	0	0	0	14458	1606	56	5	458	5	SLAMF8	1	159802746	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	518988	159802746	89447875	10	14950											
BLZF1	8548	broad.mit.edu	37	chr1	169349768	169349768	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcagctttacagcgtcaaAaccgtgatgcacacggggct	11	7	12	11	3	1	1	1	1	0	0	1	2	1	1	1	2	6	4	1	2	3	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:169349768A>T	ENST00000367808.3	+	5	1141	c.718A>T	c.(718-720)Aac>Tac	p.N240Y	BLZF1_ENST00000329281.2_Missense_Mutation_p.N240Y			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	240					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					ACAGCGTCAAAACCGTGATGC	0.393													7	106					0	0	0	0	T	169349768	A	T	169349768	3	4	79	1	0	0	0	0	1	0	0	0	1458	14	1	5	732	5	BLZF1	1	169349768	Missense_Mutation	SNP	A	TCGA-CN-5359-01A-01D-1434-08	9547022	169349768	79900853	11	14951											
RD3	343035	broad.mit.edu	37	chr1	211654485	211654485	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatagcaggcccacaataGgatgggtggatcttaacgca	13	7	13	8	1	1	0	0	0	1	0	1	3	1	3	1	5	2	2	1	5	4	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:211654485G>A	ENST00000367002.4	-	2	1436	c.273C>T	c.(271-273)tcC>tcT	p.S91S	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	91					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GCCCACAATAGGATGGGTGGA	0.617													17	45					0	0	0	0	A	211654485	G	A	211654485	2	1	79	1	0	0	0	0	0	0	0	1	13269	987	35	4		4	RD3	1	211654485	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	42304717	211654485	37596136	12	14952											
USH2A	7399	broad.mit.edu	37	chr1	216348688	216348688	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcatcgtggtcatcagAgctggtagagatgactctct	9	13	10	9	1	5	3	4	1	1	2	7	4	5	3	0	2	1	2	0	2	1	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:216348688A>T	ENST00000366943.2	-	21	4919	c.4533T>A	c.(4531-4533)gcT>gcA	p.A1511A	USH2A_ENST00000307340.3_Silent_p.A1511A|USH2A_ENST00000366942.3_Silent_p.A1511A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1511					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTCATCAGAGCTGGTAGAG	0.443										HNSCC(13;0.011)			7	90					0	0	0	0	T	216348688	A	T	216348688	2	4	79	1	0	0	0	0	0	0	0	1	17132	291	11	5		5	USH2A	1	216348688	Silent	SNP	A	TCGA-CN-5359-01A-01D-1434-08	4694203	216348688	32901933	13	14953											
OBSCN	84033	broad.mit.edu	37	chr1	228465484	228465484	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactctcatctaccggagaGtcctggcggaagatgcagga	11	7	12	11	2	2	2	1	0	2	2	4	5	3	4	2	4	2	1	2	4	2	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:228465484G>C	ENST00000570156.2	+	30	8145	c.8071G>C	c.(8071-8073)Gtc>Ctc	p.V2691L	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V2262L|OBSCN_ENST00000422127.1_Missense_Mutation_p.V2262L|OBSCN_ENST00000359599.6_Missense_Mutation_p.V1109L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1688	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTACCGGAGAGTCCTGGCGGA	0.622													7	62					0	0	0	0	C	228465484	G	C	228465484	3	2	79	1	0	0	0	0	1	0	0	0	10883	1029	36	4	6878	4	OBSCN	1	228465484	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	12116796	228465484	20785137	14	14954											
CAPN9	10753	broad.mit.edu	37	chr1	230898463	230898463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccaccttcagggaccGcttggttttcctccactctg	4	12	8	17	1	2	0	1	0	1	0	4	1	4	1	6	2	1	2	6	2	0	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:230898463G>A	ENST00000354537.1	+	4	549	c.467G>A	c.(466-468)cGc>cAc	p.R156H	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.R93H|CAPN9_ENST00000271971.2_Missense_Mutation_p.R156H	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	156	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TTCAGGGACCGCTTGGTTTTC	0.577													28	87					0	0	0	0	A	230898463	G	A	230898463	3	1	79	1	0	0	0	0	1	0	0	0	2657	1087	38	1	481	1	CAPN9	1	230898463	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	2432979	230898463	18352158	15	14955											
ITSN2	50618	broad.mit.edu	37	chr2	24432687	24432687	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagacgcgtgatactcacCgttttatacattttgaattg	10	14	7	10	3	1	3	1	2	0	1	1	3	1	3	2	0	2	1	2	0	4	7			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:24432687C>T	ENST00000355123.4	-	35	4916	c.4473_splice	c.e35+1	p.T1491_splice	ITSN2_ENST00000361999.3_Splice_Site_p.T1464_splice	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1491	PH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.T1490T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATACTCACCGTTTTATACA	0.502													5	108					0	0	0	0	T	24432687	C	T	24432687	5	4	79	1	0	0	0	0	0	0	1	0	7980	666	23	1	644	1	ITSN2	2	24432687	Splice_Site	SNP	C	TCGA-CN-5359-01A-01D-1434-08		24432687	218766686	16	14956											
RASGRP3	25780	broad.mit.edu	37	chr2	33784037	33784037	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggtgtggatgttgtagaCcggggcacggagtttgaact	7	11	17	6	2	0	2	0	1	0	1	0	4	0	4	1	5	1	5	1	5	2	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:33784037C>T	ENST00000403687.3	+	17	2744	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D	AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Silent_p.D668D|RASGRP3_ENST00000407811.1_Silent_p.D667D	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	668					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATGTTGTAGACCGGGGCACGG	0.483													9	36					0	0	0	0	T	33784037	C	T	33784037	2	4	79	1	0	0	0	0	0	0	0	1	13158	506	18	4		4	RASGRP3	2	33784037	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	9351350	33784037	209415336	17	14957											
RHOQ	23433	broad.mit.edu	37	chr2	46803235	46803235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttcctcaggaagactatGaccgtctgaggcctttatct	8	14	9	10	1	3	3	1	2	2	1	4	4	4	4	3	2	0	1	3	2	3	5			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:46803235G>A	ENST00000238738.4	+	3	530	c.211G>A	c.(211-213)Gac>Aac	p.D71N	RP11-417F21.1_ENST00000506009.2_RNA|RHOQ_ENST00000465198.1_3'UTR	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	71					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGAAGACTATGACCGTCTGAG	0.373													11	113					0	0	0	0	A	46803235	G	A	46803235	3	1	79	1	0	0	0	0	1	0	0	0	13425	1290	45	2	221	2	RHOQ	2	46803235	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	13019198	46803235	196396138	18	14958											
EPCAM	4072	broad.mit.edu	37	chr2	47602414	47602414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaaagcaagagaaaaacCttatgatagtaaaagtttgc	20	8	7	6	0	0	2	0	1	0	1	0	3	0	2	1	0	3	3	1	0	8	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:47602414C>A	ENST00000263735.4	+	4	825	c.467C>A	c.(466-468)cCt>cAt	p.P156H	EPCAM_ENST00000405271.1_Missense_Mutation_p.P184H	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	156					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						AGAGAAAAACCTTATGATAGT	0.348													15	56					3.51602e-12	4.49056e-12	1	0	A	47602414	C	A	47602414	3	1	79	1	0	0	0	0	1	0	0	0	5200	681	24	4	481	4	EPCAM	2	47602414	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	799179	47602414	195596959	19	14959											
ACTG2	72	broad.mit.edu	37	chr2	74129609	74129609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaccaactgggatgacatGgagaaggtatctgtagactt	13	10	11	7	0	2	3	1	1	1	2	2	5	2	4	1	3	1	2	1	3	4	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:74129609G>A	ENST00000409624.1	+	4	892	c.249G>A	c.(247-249)atG>atA	p.M83I	ACTG2_ENST00000409731.3_Intron|ACTG2_ENST00000409918.1_Missense_Mutation_p.M83I|ACTG2_ENST00000345517.3_Missense_Mutation_p.M83I			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	83					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GGGATGACATGGAGAAGGTAT	0.488													11	61					0	0	0	0	A	74129609	G	A	74129609	3	1	79	1	0	0	0	0	1	0	0	0	197	1348	47	4	255	4	ACTG2	2	74129609	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	26527195	74129609	169069764	20	14960											
MGAT4A	11320	broad.mit.edu	37	chr2	99279521	99279521	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataattacctctcctatgaaGactactataacacagtccaa	16	11	3	11	0	1	2	0	1	1	1	3	2	2	2	3	0	3	0	3	0	8	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:99279521G>T	ENST00000393487.1	-	5	838	c.525C>A	c.(523-525)gtC>gtA	p.V175V	MGAT4A_ENST00000264968.2_Silent_p.V175V|MGAT4A_ENST00000409391.1_Silent_p.V175V|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000414521.2_Silent_p.V47V	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	175					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CTCCTATGAAGACTACTATAA	0.303													29	268					0.000184323	0.000207254	1	0	T	99279521	G	T	99279521	2	4	79	1	0	0	0	0	0	0	0	1	9614	929	33	2		2	MGAT4A	2	99279521	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	25149912	99279521	143919852	21	14961											
LRP1B	53353	broad.mit.edu	37	chr2	141081587	141081587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccatttttaggtcctgctCcatatatataatcttcaaag	12	15	4	10	0	2	0	1	0	1	0	4	0	4	0	3	1	1	1	3	1	6	8			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:141081587C>T	ENST00000389484.3	-	81	13360	c.12389G>A	c.(12388-12390)gGa>gAa	p.G4130E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4130					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGTCCTGCTCCATATATATA	0.299										TSP Lung(27;0.18)			8	150					0	0	0	0	T	141081587	C	T	141081587	3	4	79	1	0	0	0	0	1	0	0	0	9019	855	30	2	1454	2	LRP1B	2	141081587	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	41802066	141081587	102117786	22	14962											
RIF1	55183	broad.mit.edu	37	chr2	152324520	152324520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgttttcaggttcgcCgtgtctcctttgcagatcca	5	15	9	12	2	2	1	1	0	1	1	5	1	3	1	4	1	1	3	4	1	0	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:152324520C>T	ENST00000243326.4	+	30	7090	c.6607C>T	c.(6607-6609)Cgt>Tgt	p.R2203C	RIF1_ENST00000430328.2_Missense_Mutation_p.R2203C|RIF1_ENST00000453091.2_Missense_Mutation_p.R2203C|RIF1_ENST00000428287.2_Missense_Mutation_p.R2203C|RIF1_ENST00000444746.2_Missense_Mutation_p.R2203C			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2203	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCAGGTTCGCCGTGTCTCCTT	0.358													25	165					0	0	0	0	T	152324520	C	T	152324520	3	4	79	1	0	0	0	0	1	0	0	0	13442	652	23	1	6725	1	RIF1	2	152324520	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	11242933	152324520	90874853	23	14963											
WIPF1	7456	broad.mit.edu	37	chr2	175450340	175450340	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacagtcttgctgataaatCtggaaaaacaagaatgcgat	17	9	8	7	1	2	2	0	1	2	1	2	4	2	3	0	1	4	1	0	1	7	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:175450340C>T	ENST00000392547.2	-	2	62		c.e2-1		WIPF1_ENST00000272746.5_Splice_Site|WIPF1_ENST00000409415.3_Splice_Site|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Splice_Site|WIPF1_ENST00000359761.3_Splice_Site|AC018890.6_ENST00000412835.1_RNA|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000410117.1_Splice_Site|WIPF1_ENST00000409891.1_Splice_Site	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1						actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GCTGATAAATCTGGAAAAACA	0.493													8	57					0	0	0	0	T	175450340	C	T	175450340	5	4	79	1	0	0	0	0	0	0	1	0	17463	927	32	2		2	WIPF1	2	175450340	Splice_Site	SNP	C	TCGA-CN-5359-01A-01D-1434-08	23125820	175450340	67749033	24	14964											
TTN	7273	broad.mit.edu	37	chr2	179638332	179638332	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggtcatcaggcttgattTgttcatcatttaagtaccac	10	14	7	10	1	4	1	4	1	0	0	4	1	4	1	1	2	1	3	1	2	2	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:179638332T>G	ENST00000589042.1	-	32	7675	c.7451A>C	c.(7450-7452)cAa>cCa	p.Q2484P	TTN_ENST00000460472.2_Missense_Mutation_p.Q2438P|TTN_ENST00000342992.6_Missense_Mutation_p.Q2484P|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q2484P|TTN_ENST00000360870.5_Missense_Mutation_p.Q2484P|TTN_ENST00000342175.6_Missense_Mutation_p.Q2438P|TTN_ENST00000359218.5_Missense_Mutation_p.Q2438P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2213	Ig-like 14.						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)			AGGCTTGATTTGTTCATCATT	0.428													14	185					0	0	0	0	G	179638332	T	G	179638332	3	3	79	1	0	0	0	0	1	0	0	0	16831	1812	63	5	103861	5	TTN	2	179638332	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	4187992	179638332	63561041	25	14965											
TTN	7273	broad.mit.edu	37	chr2	179650801	179650801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccaggctctctgggctctCtgactcgggcctggtctact	3	11	12	15	1	3	1	0	1	3	0	6	1	3	1	2	4	1	2	2	4	1	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:179650801C>G	ENST00000589042.1	-	14	2368	c.2144G>C	c.(2143-2145)aGa>aCa	p.R715T	TTN_ENST00000460472.2_Missense_Mutation_p.R669T|TTN_ENST00000342992.6_Missense_Mutation_p.R715T|TTN_ENST00000591111.1_Missense_Mutation_p.R715T|TTN_ENST00000360870.5_Missense_Mutation_p.R715T|TTN_ENST00000342175.6_Missense_Mutation_p.R669T|TTN_ENST00000359218.5_Missense_Mutation_p.R669T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	715							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)			TCTGGGCTCTCTGACTCGGGC	0.502													8	85					0	0	0	0	G	179650801	C	G	179650801	3	3	79	1	0	0	0	0	1	0	0	0	16831	913	32	2	109240	2	TTN	2	179650801	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	12469	179650801	63548572	26	14966											
ZNF804A	91752	broad.mit.edu	37	chr2	185803488	185803488	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccgcagctgcaggaacctTtaaagtgcttcagccacacc	11	7	9	14	1	1	0	1	0	0	0	1	1	1	1	4	1	6	4	4	1	3	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:185803488T>A	ENST00000302277.6	+	4	3959	c.3365T>A	c.(3364-3366)tTt>tAt	p.F1122Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1122						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gcagGAACCTTTAAAGTGCTT	0.522													7	70					0	0	0	0	A	185803488	T	A	185803488	3	1	79	1	0	0	0	0	1	0	0	0	18263	1841	64	5	3379	5	ZNF804A	2	185803488	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	6152687	185803488	57395885	27	14967											
CNTN6	27255	broad.mit.edu	37	chr3	1414632	1414632	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagtagccgatatcatTgttagaggtaagcataaatg	13	12	10	6	1	2	1	1	0	1	1	2	2	2	1	1	1	3	5	1	1	6	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:1414632T>C	ENST00000446702.2	+	14	2406	c.1779T>C	c.(1777-1779)atT>atC	p.I593I	CNTN6_ENST00000350110.2_Silent_p.I593I|CNTN6_ENST00000539053.1_Silent_p.I521I			Q9UQ52	CNTN6_HUMAN	contactin 6	593					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCGATATCATTGTTAGAGGTA	0.358													3	97					0	0	0	0	C	1414632	T	C	1414632	2	2	79	1	0	0	0	0	0	0	0	1	3675	1800	63	5		5	CNTN6	3	1414632	Silent	SNP	T	TCGA-CN-5359-01A-01D-1434-08		1414632	196607798	28	14968											
RNF123	63891	broad.mit.edu	37	chr3	49758486	49758487	+	Frame_Shift_Ins	INS	-	-	A																															ggacctctgccccatctgctINSatgcccaccccatctctgct																										TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:49758486_49758487insA	ENST00000327697.6	+	38	3916_3917	c.3772_3773insA	c.(3772-3774)tgcfs	p.C1258fs	GMPPB_ENST00000308375.6_3'UTR|RNF123_ENST00000433785.1_Frame_Shift_Ins_p.C370fs|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000480687.1_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1258						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCCCATCTGCTATGCCCACCCC	0.604													24	124	---	---	---	---					A	49758487	-	A	49758486	7	5	79	1	0	1	1	0	0	0	0	0	13518	1522	53	0	3918	0	RNF123	3	49758486	Frame_Shift_Ins	INS	-	TCGA-CN-5359-01A-01D-1434-08	48343854	49758486	148263944	29	14969											
OR5AC2	81050	broad.mit.edu	37	chr3	97806357	97806357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagtgcaactacagaatGcttcctcctggtgatgatgg	9	12	10	10	0	0	3	0	2	0	1	3	3	3	3	3	2	4	2	3	2	3	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:97806357G>T	ENST00000358642.2	+	1	341	c.341G>T	c.(340-342)tGc>tTc	p.C114F		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ACTACAGAATGCTTCCTCCTG	0.448													23	380					9.62636e-23	1.28534e-22	1	0	T	97806357	G	T	97806357	3	4	79	1	0	0	0	0	1	0	0	0	11212	1319	46	4	343	4	OR5AC2	3	97806357	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	48047871	97806357	100216073	30	14970											
PRR23A	729627	broad.mit.edu	37	chr3	138724783	138724783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctgcgctcctgagcgttCgtcgacagagctcaggagga	7	8	14	12	4	1	2	1	1	0	1	5	5	3	4	2	2	3	3	2	2	0	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:138724783C>T	ENST00000383163.2	-	1	327	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	110										endometrium(3)|kidney(1)|lung(7)	11						CCTGAGCGTTCGTCGACAGAG	0.617													6	42					0	0	0	0	T	138724783	C	T	138724783	3	4	79	1	0	0	0	0	1	0	0	0	12674	893	31	1	476	1	PRR23A	3	138724783	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	40918426	138724783	59297647	31	14971											
HPS3	84343	broad.mit.edu	37	chr3	148880620	148880620	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacatctggagattgtctaaGaggcagcctcctgacaccac	11	9	9	12	0	2	3	0	1	2	2	3	4	3	3	3	2	2	1	3	2	2	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:148880620G>C	ENST00000296051.2	+	13	2576	c.2436G>C	c.(2434-2436)aaG>aaC	p.K812N	HPS3_ENST00000460120.1_Missense_Mutation_p.K647N	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	812						cytoplasm		p.K812N(1)		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)			GATTGTCTAAGAGGCAGCCTC	0.423									Hermansky-Pudlak syndrome				22	152					0	0	0	0	C	148880620	G	C	148880620	3	2	79	1	0	0	0	0	1	0	0	0	7390	933	33	2	2486	2	HPS3	3	148880620	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	10155837	148880620	49141810	32	14972											
DHX36	170506	broad.mit.edu	37	chr3	154022955	154022955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgtttccttggcaacCgactgtgaatgaaagacatg	12	10	9	10	1	0	3	0	2	0	1	1	4	1	3	3	1	2	2	3	1	4	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:154022955C>T	ENST00000496811.1	-	7	976	c.896G>A	c.(895-897)cGg>cAg	p.R299Q	DHX36_ENST00000544526.1_Missense_Mutation_p.R299Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R299Q|DHX36_ENST00000329463.5_Missense_Mutation_p.R299Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	299	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCTTGGCAACCGACTGTGAAT	0.353													4	79					0	0	0	0	T	154022955	C	T	154022955	3	4	79	1	0	0	0	0	1	0	0	0	4546	652	23	1	2206	1	DHX36	3	154022955	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	5142335	154022955	43999475	33	14973											
NCEH1	57552	broad.mit.edu	37	chr3	172365794	172365794	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaccatcaaagtctgtgtcGgtcaccttcacttgggcaga	10	10	9	12	1	4	1	3	0	1	1	5	1	4	1	2	2	0	1	2	2	1	2	rs141870427	byFrequency	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:172365794G>C	ENST00000475381.1	-	2	482	c.249C>G	c.(247-249)acC>acG	p.T83T	NCEH1_ENST00000273512.3_Silent_p.T115T|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Silent_p.T115T			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	83					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AGTCTGTGTCGGTCACCTTCA	0.512													4	124					0	0	0	0	C	172365794	G	C	172365794	2	2	79	1	0	0	0	0	0	0	0	1	10285	1103	39	3		3	NCEH1	3	172365794	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	18342839	172365794	25656636	34	14974											
CLCN2	1181	broad.mit.edu	37	chr3	184071144	184071144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgccggcgggctgggCtcagctgggcccccaacaat	5	5	15	16	3	1	0	1	0	0	0	1	0	1	0	4	4	3	4	4	4	2	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:184071144C>T	ENST00000265593.4	-	17	2093	c.1922G>A	c.(1921-1923)aGc>aAc	p.S641N	CLCN2_ENST00000457512.1_Missense_Mutation_p.S641N|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.S624N|CLCN2_ENST00000434054.2_Missense_Mutation_p.S597N	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	641	CBS 1.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCGGGCTGGGCTCAGCTGGGC	0.627													16	79					0	0	0	0	T	184071144	C	T	184071144	3	4	79	1	0	0	0	0	1	0	0	0	3493	797	28	4	806	4	CLCN2	3	184071144	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	11705350	184071144	13951286	35	14975											
ATP13A3	79572	broad.mit.edu	37	chr3	194182898	194182898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaccctgattgatggTcttcctttcttccctgtcca	4	18	6	13	0	3	3	0	3	3	0	6	3	6	3	4	1	0	0	4	1	0	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:194182898T>C	ENST00000439040.1	-	3	813	c.22A>G	c.(22-24)Acc>Gcc	p.T8A	ATP13A3_ENST00000256031.4_Missense_Mutation_p.T8A			Q9H7F0	AT133_HUMAN	ATPase type 13A3	8					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGATTGATGGTCTTCCTTTCT	0.408													10	138					0	0	0	0	C	194182898	T	C	194182898	3	2	79	1	0	0	0	0	1	0	0	0	1129	1667	58	5	3782	5	ATP13A3	3	194182898	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	10111754	194182898	3839532	36	14976											
BST1	683	broad.mit.edu	37	chr4	15716972	15716972	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagagccaacaggagcctAtcccatcaaagggtaagaac	15	6	9	11	0	2	2	2	0	0	2	3	3	3	3	3	2	4	1	3	2	5	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:15716972A>G	ENST00000382346.3	+	6	693	c.644A>G	c.(643-645)tAt>tGt	p.Y215C	BST1_ENST00000265016.4_Missense_Mutation_p.Y200C			Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	200					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						ACAGGAGCCTATCCCATCAAA	0.368													13	76					0	0	0	0	G	15716972	A	G	15716972	3	3	79	1	0	0	0	0	1	0	0	0	1541	449	16	5	617	5	BST1	4	15716972	Missense_Mutation	SNP	A	TCGA-CN-5359-01A-01D-1434-08		15716972	175437304	37	14977											
SULT1E1	6783	broad.mit.edu	37	chr4	70713474	70713474	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctttcccttttcccacCaagattttacatgtttatac	9	17	3	12	0	1	1	0	0	1	1	3	2	3	1	3	0	2	1	3	0	4	8			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:70713474C>G	ENST00000226444.3	-	6	645	c.533G>C	c.(532-534)tGg>tCg	p.W178S		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	178					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTTTTCCCACCAAGATTTTAC	0.373													50	129					0	0	0	0	G	70713474	C	G	70713474	3	3	79	1	0	0	0	0	1	0	0	0	15470	595	21	4	363	4	SULT1E1	4	70713474	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	54996502	70713474	120440802	38	14978											
GRID2	2895	broad.mit.edu	37	chr4	94006200	94006200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagctccattggctgcaCgtcagcaggatccctccagt	7	9	11	14	1	2	0	2	0	0	0	5	1	5	1	3	3	3	4	3	3	0	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:94006200C>T	ENST00000282020.4	+	3	557	c.299C>T	c.(298-300)aCg>aTg	p.T100M	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	100					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATTGGCTGCACGTCAGCAGGA	0.522													6	99					0	0	0	0	T	94006200	C	T	94006200	3	4	79	1	0	0	0	0	1	0	0	0	6822	536	19	1	309	1	GRID2	4	94006200	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	23292726	94006200	97148076	39	14979											
ADH1B	125	broad.mit.edu	37	chr4	100232742	100232742	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagggtttattgagaggttCtgggaagcaggaggtacccc	10	10	15	6	0	1	1	0	1	1	1	1	4	1	3	2	5	2	4	2	5	4	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:100232742C>T	ENST00000305046.8	-	7	967	c.900G>A	c.(898-900)caG>caA	p.Q300Q	ADH1B_ENST00000394887.3_Silent_p.Q260Q			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	300					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTGAGAGGTTCTGGGAAGCAG	0.473													19	260					0	0	0	0	T	100232742	C	T	100232742	2	4	79	1	0	0	0	0	0	0	0	1	308	912	32	2		2	ADH1B	4	100232742	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	6226542	100232742	90921534	40	14980											
ADH1B	125	broad.mit.edu	37	chr4	100242501	100242501	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgctcatgtcgtttctgtcTtctctgcccaccagcagact	5	14	8	14	1	4	1	1	0	3	1	6	1	4	1	2	0	3	3	2	0	0	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:100242501T>A	ENST00000305046.8	-	0	55				ADH1B_ENST00000504498.1_5'UTR|ADH1B_ENST00000394887.3_De_novo_Start_OutOfFrame			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CGTTTCTGTCTTCTCTGCCCA	0.348													39	145					0	0	0	0	A	100242501	T	A	100242501	1	1	79	1	0	0	0	0	0	0	0	0	308	1624	56	5		5	ADH1B	4	100242501	Translation_Start_Site	SNP	T	TCGA-CN-5359-01A-01D-1434-08	9759	100242501	90911775	41	14981											
TBCK	93627	broad.mit.edu	37	chr4	107016640	107016640	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttctgaatatacttaccTcagctgtgtgttttgccaca	9	16	6	10	0	2	1	1	1	1	0	2	1	2	1	2	0	4	2	2	0	4	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:107016640T>A	ENST00000273980.4	-	26	3017	c.2571_splice	c.e26+1	p.E857_splice	TBCK_ENST00000394706.3_Splice_Site_p.E818_splice|TBCK_ENST00000361687.4_Splice_Site_p.E794_splice|TBCK_ENST00000432496.2_Splice_Site_p.E857_splice|TBCK_ENST00000394708.2_Splice_Site_p.E857_splice			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	857	Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TATACTTACCTCAGCTGTGTG	0.428													19	90					0	0	0	0	A	107016640	T	A	107016640	5	1	79	1	0	0	0	0	0	0	1	0	15730	1565	54	5	119	5	TBCK	4	107016640	Splice_Site	SNP	T	TCGA-CN-5359-01A-01D-1434-08	6774139	107016640	84137636	42	14982											
ELOVL6	79071	broad.mit.edu	37	chr4	110972591	110972591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtacatgagtgaggacCagaagatgttctgaaagtga	14	9	14	4	0	1	7	0	5	1	2	1	8	1	8	1	2	1	2	1	2	3	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:110972591C>A	ENST00000394607.3	-	5	864	c.701G>T	c.(700-702)tGg>tTg	p.W234L	ELOVL6_ENST00000302274.3_Missense_Mutation_p.W234L			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	234					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GAGTGAGGACCAGAAGATGTT	0.473													13	152					0.00185496	0.00203699	1	0	A	110972591	C	A	110972591	3	1	79	1	0	0	0	0	1	0	0	0	5116	595	21	4	100	4	ELOVL6	4	110972591	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	3955951	110972591	80181685	43	14983											
ANK2	287	broad.mit.edu	37	chr4	114209630	114209630	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcagggagcaaatgttaaCgcaaaaaccaaggtaaagta	20	5	10	6	1	0	0	0	0	0	0	0	1	0	1	1	2	4	6	1	2	9	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:114209630C>T	ENST00000357077.4	+	20	2318	c.2265C>T	c.(2263-2265)aaC>aaT	p.N755N	ANK2_ENST00000264366.6_Silent_p.N755N|ANK2_ENST00000506722.1_Silent_p.N734N|ANK2_ENST00000394537.3_Silent_p.N755N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	755					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAAATGTTAACGCAAAAACCA	0.373													15	68					0	0	0	0	T	114209630	C	T	114209630	2	4	79	1	0	0	0	0	0	0	0	1	621	535	19	1		1	ANK2	4	114209630	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	3237039	114209630	76944646	44	14984											
USP53	54532	broad.mit.edu	37	chr4	120190943	120190943	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaacttactttcttcacaAaggaaagatttagagaaggg	18	10	8	5	0	2	2	1	0	1	2	2	4	2	3	0	2	2	0	0	2	7	5			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:120190943A>G	ENST00000450251.1	+	11	1930	c.1386A>G	c.(1384-1386)caA>caG	p.Q462Q	USP53_ENST00000274030.6_Silent_p.Q462Q			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	462					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTTCTTCACAAAGGAAAGATT	0.318													9	163					0	0	0	0	G	120190943	A	G	120190943	2	3	79	1	0	0	0	0	0	0	0	1	17180	11	1	5		5	USP53	4	120190943	Silent	SNP	A	TCGA-CN-5359-01A-01D-1434-08	5981313	120190943	70963333	45	14985											
KIAA1109	84162	broad.mit.edu	37	chr4	123147888	123147888	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcctcttggagtggggacaGacatttgtttttcatgtggt	6	16	13	6	0	2	1	1	0	1	1	2	3	2	3	1	4	1	1	1	4	0	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:123147888G>C	ENST00000264501.4	+	24	3193	c.2820G>C	c.(2818-2820)caG>caC	p.Q940H	KIAA1109_ENST00000455637.1_Missense_Mutation_p.Q940H|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Q940H|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	940					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGTGGGGACAGACATTTGTTT	0.413													20	294					0	0	0	0	C	123147888	G	C	123147888	3	2	79	1	0	0	0	0	1	0	0	0	8259	933	33	2	2906	2	KIAA1109	4	123147888	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	2956945	123147888	68006388	46	14986											
FSTL5	56884	broad.mit.edu	37	chr4	162307204	162307204	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgggcttcagtaaaggAtggttgaaatgccagatcag	11	11	14	5	0	2	2	2	1	0	1	2	3	2	3	1	4	1	3	1	4	3	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:162307204A>G	ENST00000306100.5	-	16	2675	c.2239T>C	c.(2239-2241)Tcc>Ccc	p.S747P	FSTL5_ENST00000427802.2_Missense_Mutation_p.S737P|FSTL5_ENST00000536695.1_Missense_Mutation_p.S746P|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.S746P	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	747						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGTAAAGGATGGTTGAAAT	0.408													17	142					0	0	0	0	G	162307204	A	G	162307204	3	3	79	1	0	0	0	0	1	0	0	0	6128	333	12	5	308	5	FSTL5	4	162307204	Missense_Mutation	SNP	A	TCGA-CN-5359-01A-01D-1434-08	39159316	162307204	28847072	47	14987											
FAT1	2195	broad.mit.edu	37	chr4	187541443	187541443	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcagtgacatagcgaatGacatggcccacctcagtgtc	12	7	10	12	1	1	2	1	2	0	0	2	3	1	2	2	1	2	1	2	1	2	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:187541443G>A	ENST00000441802.2	-	10	6506	c.6297C>T	c.(6295-6297)gtC>gtT	p.V2099V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2099	Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATAGCGAATGACATGGCCCA	0.473										HNSCC(5;0.00058)			30	255					0	0	0	0	A	187541443	G	A	187541443	2	1	79	1	0	0	0	0	0	0	0	1	5734	1277	45	2		2	FAT1	4	187541443	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	25234239	187541443	3612833	48	14988											
CTNND2	1501	broad.mit.edu	37	chr5	11364871	11364871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccctggctctggctgaGactcctcatagggggcttct	4	11	12	14	0	3	1	1	1	2	1	5	2	5	1	3	4	0	3	3	4	1	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:11364871G>T	ENST00000304623.8	-	8	1498	c.1309C>A	c.(1309-1311)Ctc>Atc	p.L437I	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.L100I|CTNND2_ENST00000359640.2_Missense_Mutation_p.L437I|CTNND2_ENST00000458100.2_Missense_Mutation_p.L4I|CTNND2_ENST00000511377.1_Missense_Mutation_p.L346I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	437					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCTGGCTGAGACTCCTCATA	0.627													6	66					4.096e-09	5.06611e-09	1	0	T	11364871	G	T	11364871	3	4	79	1	0	0	0	0	1	0	0	0	4052	942	33	2	2428	2	CTNND2	5	11364871	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08		11364871	169550389	49	14989											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576465	33576465	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtagtgggcctttggctGgggagcagtccttccattac	7	11	14	9	0	0	0	0	0	0	0	2	2	2	1	3	4	2	3	3	4	3	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:33576465G>T	ENST00000504830.1	-	19	4001	c.3666C>A	c.(3664-3666)ccC>ccA	p.P1222P	ADAMTS12_ENST00000352040.3_Silent_p.P1137P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1222	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCCTTTGGCTGGGGAGCAGTC	0.557										HNSCC(64;0.19)			43	140					1.68508e-10	2.10636e-10	1	0	T	33576465	G	T	33576465	2	4	79	1	0	0	0	0	0	0	0	1	257	1335	47	4		4	ADAMTS12	5	33576465	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	22211594	33576465	147338795	50	14990											
LIFR	3977	broad.mit.edu	37	chr5	38510706	38510706	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaaggggcagtttgtaTggccaatcagtgctgataac	11	10	13	7	0	2	1	2	1	0	0	2	2	2	2	1	4	2	4	1	4	4	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:38510706T>C	ENST00000263409.4	-	7	1013	c.851A>G	c.(850-852)cAt>cGt	p.H284R	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.H284R	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	284					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCAGTTTGTATGGCCAATCAG	0.368			T	PLAG1	salivary adenoma								6	117					0	0	0	0	C	38510706	T	C	38510706	3	2	79	1	0	0	0	0	1	0	0	0	8834	1464	51	5	2498	5	LIFR	5	38510706	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	4934241	38510706	142404554	51	14991											
ZNF366	167465	broad.mit.edu	37	chr5	71756160	71756160	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagttgtactggatggggccCcggtgcgtggtgaggtgtct	4	11	18	8	2	1	1	0	1	1	0	1	2	1	2	2	6	2	2	2	6	1	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:71756160C>T	ENST00000318442.5	-	2	1654	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGATGGGGCCCCGGTGCGTGG	0.612													8	57					0	0	0	0	T	71756160	C	T	71756160	2	4	79	1	0	0	0	0	0	0	0	1	17965	610	22	4		4	ZNF366	5	71756160	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	33245454	71756160	109159100	52	14992											
PAM	5066	broad.mit.edu	37	chr5	102363940	102363940	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagagtactgggaagatttaGaggtatgcctatgacctttt	12	13	11	5	0	0	4	0	1	0	3	0	5	0	5	2	2	2	2	2	2	6	7			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:102363940G>C	ENST00000438793.3	+	24	3211	c.2741G>C	c.(2740-2742)aGa>aCa	p.R914T	PAM_ENST00000346918.2_Intron|PAM_ENST00000304400.7_Missense_Mutation_p.R915T|PAM_ENST00000379787.4_Intron|PAM_ENST00000348126.2_Missense_Mutation_p.R807T|PAM_ENST00000455264.2_Missense_Mutation_p.R846T|PAM_ENST00000274392.9_Missense_Mutation_p.R816T	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	914					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GGAAGATTTAGAGGTATGCCT	0.373													22	146					0	0	0	0	C	102363940	G	C	102363940	3	2	79	1	0	0	0	0	1	0	0	0	11483	942	33	2	2838	2	PAM	5	102363940	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	30607780	102363940	78551320	53	14993											
MAN2A1	4124	broad.mit.edu	37	chr5	109153015	109153015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttagaacaagaccgaatctCgttggtctcagtctatgtga	11	13	9	8	2	3	3	1	1	3	2	5	4	3	3	1	1	1	1	1	1	5	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:109153015C>T	ENST00000261483.4	+	13	3037	c.1985C>T	c.(1984-1986)tCg>tTg	p.S662L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	662					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GACCGAATCTCGTTGGTCTCA	0.413													15	183					0	0	0	0	T	109153015	C	T	109153015	3	4	79	1	0	0	0	0	1	0	0	0	9283	893	31	1	2035	1	MAN2A1	5	109153015	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	6789075	109153015	71762245	54	14994											
SHROOM1	134549	broad.mit.edu	37	chr5	132158993	132158993	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccagggcgcggcgcacGcgcgccaggcgactgcccag	5	1	18	17	8	0	0	0	0	0	0	0	1	0	0	3	4	1	1	3	4	0	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:132158993G>A	ENST00000378679.3	-	9	2979	c.2175C>T	c.(2173-2175)cgC>cgT	p.R725R	SHROOM1_ENST00000378676.1_Silent_p.R656R|SHROOM1_ENST00000488072.1_5'UTR|SHROOM1_ENST00000319854.3_Silent_p.R725R	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	725	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGCGGCGCACGCGCGCCAGGC	0.692													6	70					0	0	0	0	A	132158993	G	A	132158993	2	1	79	1	0	0	0	0	0	0	0	1	14381	1074	38	1		1	SHROOM1	5	132158993	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	23005978	132158993	48756267	55	14995											
PCDHGA1	56114	broad.mit.edu	37	chr5	140710445	140710445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggcagatggcggagtccGcatcgtctccagaggtagga	8	7	16	10	3	1	2	0	0	1	2	4	4	2	4	2	5	0	4	2	5	1	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:140710445G>A	ENST00000517417.1	+	1	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R65H	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGAGTCCGCATCGTCTCC	0.592													5	223					0	0	0	0	A	140710445	G	A	140710445	3	1	79	1	0	0	0	0	1	0	0	0	11621	1087	38	1	196	1	PCDHGA1	5	140710445	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	8551452	140710445	40204815	56	14996											
UBLCP1	134510	broad.mit.edu	37	chr5	158710239	158710239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gataaggccttttatgaaagCgcacctaaatcgtgataaag	15	10	9	7	2	0	2	0	2	0	0	1	3	0	2	2	1	1	1	2	1	7	5			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:158710239C>T	ENST00000296786.6	+	10	1147	c.821C>T	c.(820-822)gCg>gTg	p.A274V		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	274	FCP1 homology.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTATGAAAGCGCACCTAAAT	0.299													16	120					0	0	0	0	T	158710239	C	T	158710239	3	4	79	1	0	0	0	0	1	0	0	0	16987	768	27	1	855	1	UBLCP1	5	158710239	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	17999794	158710239	22205021	57	14997											
GABRA6	2559	broad.mit.edu	37	chr5	161116008	161116008	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggactgatgagaggttgaaGtttggggggccaactgagat	10	10	17	4	0	0	4	0	4	0	2	0	7	0	5	1	5	1	2	1	5	2	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:161116008G>A	ENST00000523217.1	+	4	491	c.249G>A	c.(247-249)aaG>aaA	p.K83K	GABRA6_ENST00000274545.5_Silent_p.K93K|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	93					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGAGGTTGAAGTTTGGGGGGC	0.408										TCGA Ovarian(5;0.080)			15	190					0	0	0	0	A	161116008	G	A	161116008	2	1	79	1	0	0	0	0	0	0	0	1	6213	1020	36	4		4	GABRA6	5	161116008	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	2405769	161116008	19799252	58	14998											
ZNF354B	117608	broad.mit.edu	37	chr5	178310010	178310010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctaaagaaaaaactccatCaaaatgtgaaatacaaagaa	23	7	5	6	0	1	3	1	1	0	2	2	3	2	3	1	0	3	1	1	0	11	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:178310010C>T	ENST00000322434.3	+	5	783	c.557C>T	c.(556-558)tCa>tTa	p.S186L		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAACTCCATCAAAATGTGAA	0.308													11	87					0	0	0	0	T	178310010	C	T	178310010	3	4	79	1	0	0	0	0	1	0	0	0	17960	838	29	2	571	2	ZNF354B	5	178310010	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	17194002	178310010	2605250	59	14999											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199981	26199983	+	In_Frame_Del	DEL	CTT	CTT	-																															gccatgggcatcatgaactcCttcgtcaacgatatcttcga																										TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:26199981_26199983delCTT	ENST00000359985.1	+	1	234_236	c.195_197delCTT	c.(193-198)tcc>tc	p.SF65del		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	65					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				TCATGAACTCCTTCGTCAACGAT	0.581													40	362	---	---	---	---					-	26199983	CTT	-	26199981	7	5	79	1	0	1	0	1	0	0	0	0	7195	668	24	0	197	0	HIST1H2BF	6	26199981	In_Frame_Del	DEL	CTT	TCGA-CN-5359-01A-01D-1434-08		26199981	144915086	60	15000											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271590	26271590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccaccggtggacttgcgtGcagtctgcttggtgcgggcc	3	10	16	12	3	1	0	0	0	1	0	1	1	1	1	3	4	5	2	3	4	0	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:26271590G>A	ENST00000305910.3	-	1	22	c.23C>T	c.(22-24)gCa>gTa	p.A8V		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	8					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GGACTTGCGTGCAGTCTGCTT	0.567													5	66					0	0	0	0	A	26271590	G	A	26271590	3	1	79	1	0	0	0	0	1	0	0	0	7211	1319	46	4	391	4	HIST1H3G	6	26271590	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	71609	26271590	144843477	61	15001											
KIFC1	3833	broad.mit.edu	37	chr6	33371721	33371721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcacaacactggaggggCatttagccaaggtacaggcc	12	5	13	11	1	0	0	0	0	0	0	0	1	0	1	2	5	4	3	2	5	4	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:33371721C>T	ENST00000428849.2	+	6	1021	c.571C>T	c.(571-573)Cat>Tat	p.H191Y		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	191					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						ACTGGAGGGGCATTTAGCCAA	0.597													43	170					0	0	0	0	T	33371721	C	T	33371721	3	4	79	1	0	0	0	0	1	0	0	0	8363	710	25	4	593	4	KIFC1	6	33371721	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	7100131	33371721	137743346	62	15002											
SLC25A27	9481	broad.mit.edu	37	chr6	46644143	46644143	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttggtcaatggtgttctgGcttacttatgaaaaaatcag	11	14	9	7	0	3	1	2	1	1	0	3	1	3	1	1	3	1	2	1	3	6	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:46644143G>A	ENST00000371347.5	+	9	1176	c.924G>A	c.(922-924)tgG>tgA	p.W308*	RP11-446F17.3_ENST00000571590.1_RNA|SLC25A27_ENST00000411689.2_Intron|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|SLC25A27_ENST00000452689.2_Nonsense_Mutation_p.W222*	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	308					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			TGGTGTTCTGGCTTACTTATG	0.328													14	96					0	0	0	0	A	46644143	G	A	46644143	4	1	79	1	0	0	0	0	0	1	0	0	14578	1212	42	4	958	4	SLC25A27	6	46644143	Nonsense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	13272422	46644143	124470924	63	15003											
DST	667	broad.mit.edu	37	chr6	56480608	56480608	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaaattccaaacatcggaTtcccatttccttatttataa	13	15	3	10	1	0	1	0	1	0	0	4	2	3	2	3	1	1	0	3	1	5	7			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:56480608T>C	ENST00000370765.6	-	24	7764	c.7657A>G	c.(7657-7659)Atc>Gtc	p.I2553V	DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1849					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAACATCGGATTCCCATTTCC	0.403													35	194					0	0	0	0	C	56480608	T	C	56480608	3	2	79	1	0	0	0	0	1	0	0	0	4819	1493	52	5	12742	5	DST	6	56480608	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	9836465	56480608	114634459	64	15004											
BAG2	9532	broad.mit.edu	37	chr6	57048922	57048922	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgacaaggccatcaagctAttagagcattctaaaggagc	14	9	9	9	0	3	2	1	1	2	1	3	3	3	3	1	2	3	2	1	2	6	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:57048922A>G	ENST00000370693.5	+	3	942	c.570A>G	c.(568-570)ctA>ctG	p.L190L	BAG2_ENST00000545080.1_Silent_p.L157L	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	190					apoptosis|protein folding		protein binding			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CCATCAAGCTATTAGAGCATT	0.363													12	61					0	0	0	0	G	57048922	A	G	57048922	2	3	79	1	0	0	0	0	0	0	0	1	1291	436	16	5		5	BAG2	6	57048922	Silent	SNP	A	TCGA-CN-5359-01A-01D-1434-08	568314	57048922	114066145	65	15005											
WISP3	8838	broad.mit.edu	37	chr6	112375526	112375526	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaacaagcggcgacttcTctacccctcagggtggctcc	9	8	10	14	2	2	1	1	1	1	0	4	2	3	1	3	3	3	1	3	3	4	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:112375526T>C	ENST00000361714.1	+	1	65	c.20T>C	c.(19-21)cTc>cCc	p.L7P	WISP3_ENST00000230529.5_Intron|WISP3_ENST00000483439.1_3'UTR|WISP3_ENST00000604763.1_Intron|WISP3_ENST00000368666.2_5'UTR			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	0					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CGGCGACTTCTCTACCCCTCA	0.607													22	268					0	0	0	0	C	112375526	T	C	112375526	3	2	79	1	0	0	0	0	1	0	0	0	17470	1551	54	5	22	5	WISP3	6	112375526	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	55326604	112375526	58739541	66	15006											
MOXD1	26002	broad.mit.edu	37	chr6	132649650	132649650	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtggccggactccagaacGctgtcgttaaagttgttgct	7	12	12	10	4	0	1	0	0	0	1	3	2	1	2	2	2	2	5	2	2	3	3	rs147693794	byFrequency	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:132649650G>A	ENST00000367963.3	-	5	865	c.747C>T	c.(745-747)agC>agT	p.S249S	MOXD1_ENST00000336749.3_Silent_p.S181S	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	249					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.S249S(1)|p.S181S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ACTCCAGAACGCTGTCGTTAA	0.517													10	101					0	0	0	0	A	132649650	G	A	132649650	2	1	79	1	0	0	0	0	0	0	0	1	9790	1078	38	1		1	MOXD1	6	132649650	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	20274124	132649650	38465417	67	15007											
ECT2L	345930	broad.mit.edu	37	chr6	139134477	139134477	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaagtcattaaatagacaGgtaagttacatactttaaaa	20	11	5	5	0	1	1	1	0	0	1	1	1	1	1	0	1	3	2	0	1	10	7			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:139134477G>T	ENST00000423192.1	+	2	227	c.66_splice	c.e2+1	p.Q22_splice	ECT2L_ENST00000367682.2_Splice_Site_p.Q22_splice			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	22					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TAAATAGACAGGTAAGTTACA	0.378			"N, Splice, Mis"		ETP ALL								9	93					4.68919e-08	5.73937e-08	1	0	T	139134477	G	T	139134477	5	4	79	1	0	0	0	0	0	0	1	0	4938	1014	35	4	68	4	ECT2L	6	139134477	Splice_Site	SNP	G	TCGA-CN-5359-01A-01D-1434-08	6484827	139134477	31980590	68	15008											
PLEKHG1	57480	broad.mit.edu	37	chr6	151089868	151089868	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacaggatatctaccactTcaataggtaagttaatattc	15	13	5	8	0	2	0	1	0	1	0	3	1	2	1	1	2	2	2	1	2	8	9			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:151089868T>G	ENST00000367328.1	+	4	818	c.506T>G	c.(505-507)tTc>tGc	p.F169C	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.F169C	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	169	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATCTACCACTTCAATAGGTAA	0.393													7	46					0	0	0	0	G	151089868	T	G	151089868	3	3	79	1	0	0	0	0	1	0	0	0	12140	1783	62	5	512	5	PLEKHG1	6	151089868	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	11955391	151089868	20025199	69	15009											
PLG	5340	broad.mit.edu	37	chr6	161139390	161139390	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaggtgaaaactatcgCgggaatgtggctgttaccgt	11	9	14	7	3	0	1	0	1	0	0	1	3	0	3	1	4	3	2	1	4	6	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:161139390C>T	ENST00000308192.9	+	8	915	c.852C>T	c.(850-852)cgC>cgT	p.R284R		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	284	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAAACTATCGCGGGAATGTGG	0.493													16	159					0	0	0	0	T	161139390	C	T	161139390	2	4	79	1	0	0	0	0	0	0	0	1	12158	755	27	1		1	PLG	6	161139390	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	10049522	161139390	9975677	70	15010											
IKZF1	10320	broad.mit.edu	37	chr7	50468217	50468217	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatccacatgggctgccaCggcttccgtgatccttttga	7	11	9	14	2	0	2	0	2	0	0	3	2	3	2	5	2	1	2	5	2	0	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:50468217C>T	ENST00000331340.3	+	8	1607	c.1452C>T	c.(1450-1452)caC>caT	p.H484H	IKZF1_ENST00000357364.4_Silent_p.H397H|IKZF1_ENST00000439701.1_Silent_p.H442H|IKZF1_ENST00000359197.5_Silent_p.H442H|IKZF1_ENST00000343574.5_Silent_p.H397H|IKZF1_ENST00000346667.4_Silent_p.H254H|IKZF1_ENST00000349824.4_Silent_p.H341H|IKZF1_ENST00000438033.1_Silent_p.H397H|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	484					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TGGGCTGCCACGGCTTCCGTG	0.587			"D,T"	BCL6	"ALL, DLBCL"								7	26					0	0	0	0	T	50468217	C	T	50468217	2	4	79	1	0	0	0	0	0	0	0	1	7667	535	19	1		1	IKZF1	7	50468217	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08		50468217	108670446	71	15011											
FIGNL1	63979	broad.mit.edu	37	chr7	50514478	50514478	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaagtcttgggtccggtctcGatcatgagctgagttaggta	8	12	14	7	2	3	2	1	2	2	0	5	4	4	2	1	3	1	3	1	3	3	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:50514478G>C	ENST00000419119.1	-	2	2061	c.508C>G	c.(508-510)Cga>Gga	p.R170G	FIGNL1_ENST00000433017.1_Missense_Mutation_p.R170G|FIGNL1_ENST00000356889.4_Missense_Mutation_p.R170G|FIGNL1_ENST00000395556.2_Missense_Mutation_p.R170G			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	170					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GTCCGGTCTCGATCATGAGCT	0.458													35	237					0	0	0	0	C	50514478	G	C	50514478	3	2	79	1	0	0	0	0	1	0	0	0	5937	1066	37	3	1520	3	FIGNL1	7	50514478	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	46261	50514478	108624185	72	15012											
AKAP9	10142	broad.mit.edu	37	chr7	91730273	91730273	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactctccagaaatctttgaAaagggcagaggctgaagtat	14	9	11	7	0	2	4	0	2	2	2	3	5	2	4	1	2	0	3	1	2	5	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:91730273A>C	ENST00000359028.2	+	45	11237	c.11012A>C	c.(11011-11013)aAa>aCa	p.K3671T	AKAP9_ENST00000358100.2_Missense_Mutation_p.K3617T|AKAP9_ENST00000356239.3_Missense_Mutation_p.K3667T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3671					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAATCTTTGAAAAGGGCAGAG	0.388			T	BRAF	papillary thyroid								18	98					0	0	0	0	C	91730273	A	C	91730273	3	2	79	1	0	0	0	0	1	0	0	0	459	14	1	5	11178	5	AKAP9	7	91730273	Missense_Mutation	SNP	A	TCGA-CN-5359-01A-01D-1434-08	41215795	91730273	67408390	73	15013											
COL1A2	1278	broad.mit.edu	37	chr7	94038715	94038715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcttccaggcctctccGgccccgttggacctcctgta	3	11	11	16	2	2	0	0	0	2	0	5	1	4	1	7	4	0	2	7	4	1	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:94038715G>A	ENST00000297268.6	+	17	1345	c.874G>A	c.(874-876)Ggc>Agc	p.G292S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	292					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGGCCTCTCCGGCCCCGTTGG	0.498										HNSCC(75;0.22)			7	103					0	0	0	0	A	94038715	G	A	94038715	3	1	79	1	0	0	0	0	1	0	0	0	3708	1116	39	1	940	1	COL1A2	7	94038715	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	2308442	94038715	65099948	74	15014											
SMURF1	57154	broad.mit.edu	37	chr7	98655145	98655145	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttatggttccacacgctaAtggttatcgaatccgttttc	8	16	7	10	3	1	0	0	0	1	0	5	1	3	0	2	2	0	4	2	2	4	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:98655145A>C	ENST00000361125.1	-	4	552	c.233T>G	c.(232-234)aTt>aGt	p.I78S	SMURF1_ENST00000480055.1_5'UTR|SMURF1_ENST00000361368.2_Missense_Mutation_p.I78S	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	78	C2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CCACACGCTAATGGTTATCGA	0.378													8	57					0	0	0	0	C	98655145	A	C	98655145	3	2	79	1	0	0	0	0	1	0	0	0	14907	101	4	5	2104	5	SMURF1	7	98655145	Missense_Mutation	SNP	A	TCGA-CN-5359-01A-01D-1434-08	4616430	98655145	60483518	75	15015											
TFEC	22797	broad.mit.edu	37	chr7	115624314	115624314	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tataaccagccattagacatAcatgccattgtgcattgtca	13	12	6	10	0	1	1	1	0	0	1	1	1	1	1	3	0	5	1	3	0	4	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:115624314A>G	ENST00000265440.7	-	2	361		c.e2+1		TFEC_ENST00000320239.7_Splice_Site|TFEC_ENST00000393485.1_Splice_Site|TFEC_ENST00000484212.1_Splice_Site	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CATTAGACATACATGCCATTG	0.363													18	229					0	0	0	0	G	115624314	A	G	115624314	5	3	79	1	0	0	0	0	0	0	1	0	15896	405	14	5	889	5	TFEC	7	115624314	Splice_Site	SNP	A	TCGA-CN-5359-01A-01D-1434-08	16969169	115624314	43514349	76	15016											
TNPO3	23534	broad.mit.edu	37	chr7	128655071	128655071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actagagtagaaggccaaatCttctataatttctgtgcgcc	12	12	8	9	1	3	2	0	0	3	2	3	2	3	2	2	1	1	1	2	1	6	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:128655071C>A	ENST00000393245.1	-	4	887	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	TNPO3_ENST00000471234.1_Missense_Mutation_p.D172Y|TNPO3_ENST00000265388.5_Missense_Mutation_p.D172Y|TNPO3_ENST00000471166.1_Missense_Mutation_p.D172Y|TNPO3_ENST00000482320.1_Missense_Mutation_p.D106Y	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	172					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AAGGCCAAATCTTCTATAATT	0.393													12	118					7.93312e-07	9.46337e-07	1	0	A	128655071	C	A	128655071	3	1	79	1	0	0	0	0	1	0	0	0	16431	913	32	2	2333	2	TNPO3	7	128655071	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	13030757	128655071	30483592	77	15017											
SNTG1	54212	broad.mit.edu	37	chr8	51449368	51449368	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccggcacagatttgagtcGgtgagtccgtgtttaggagt	7	11	15	8	3	0	3	0	2	0	1	2	4	1	4	2	3	0	2	2	3	1	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:51449368G>T	ENST00000522124.1	+	11	1341	c.680_splice	c.e11+1	p.R227_splice	SNTG1_ENST00000518864.1_Splice_Site_p.R227_splice|SNTG1_ENST00000517473.1_Splice_Site_p.R227_splice|SNTG1_ENST00000276467.5_Splice_Site_p.R227_splice	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	227					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GATTTGAGTCGGTGAGTCCGT	0.438													44	279					3.86361e-14	4.96146e-14	1	0	T	51449368	G	T	51449368	5	4	79	1	0	0	0	0	0	0	1	0	14962	1130	39	3	714	3	SNTG1	8	51449368	Splice_Site	SNP	G	TCGA-CN-5359-01A-01D-1434-08		51449368	94914654	78	15018											
EYA1	2138	broad.mit.edu	37	chr8	72184055	72184055	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccccgtccacgtgattTcccatctgaacctcgacgca	7	9	8	17	5	1	2	0	2	1	0	5	3	3	2	5	1	1	1	5	1	1	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:72184055T>G	ENST00000340726.3	-	10	1543	c.904A>C	c.(904-906)Aaa>Caa	p.K302Q	EYA1_ENST00000388741.2_Missense_Mutation_p.K268Q|EYA1_ENST00000388743.2_Missense_Mutation_p.K301Q|EYA1_ENST00000388742.4_Missense_Mutation_p.K302Q|EYA1_ENST00000419131.1_Missense_Mutation_p.K297Q|EYA1_ENST00000303824.7_Missense_Mutation_p.K296Q|EYA1_ENST00000388740.3_Missense_Mutation_p.K269Q	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	302					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCACGTGATTTCCCATCTGAA	0.468													33	419					0	0	0	0	G	72184055	T	G	72184055	3	3	79	1	0	0	0	0	1	0	0	0	5366	1792	62	5	910	5	EYA1	8	72184055	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	20734687	72184055	74179967	79	15019											
MTERFD1	51001	broad.mit.edu	37	chr8	97251890	97251890	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagtgtctttctttgacCttaaacagccttgtattaaa	13	15	5	8	0	2	1	0	1	2	0	2	1	2	1	2	0	3	1	2	0	7	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:97251890C>G	ENST00000287025.3	-	8	1181	c.1083G>C	c.(1081-1083)aaG>aaC	p.K361N	MTERFD1_ENST00000523821.1_3'UTR|MTERFD1_ENST00000524341.1_Missense_Mutation_p.K117N|MTERFD1_ENST00000522822.1_Missense_Mutation_p.K240N	NM_015942.3	NP_057026.3	Q96E29	MTER1_HUMAN	MTERF domain containing 1	361					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TTTCTTTGACCTTAAACAGCC	0.323													15	91					0	0	0	0	G	97251890	C	G	97251890	3	3	79	1	0	0	0	0	1	0	0	0	9989	680	24	4	174	4	MTERFD1	8	97251890	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	25067835	97251890	49112132	80	15020											
PKHD1L1	93035	broad.mit.edu	37	chr8	110445377	110445377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctaaccatagtgggttctgGattttctcctagttcagctg	7	16	9	9	0	4	0	1	0	3	0	5	1	4	1	2	2	2	3	2	2	3	7			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:110445377G>T	ENST00000378402.5	+	28	3376	c.3272G>T	c.(3271-3273)gGa>gTa	p.G1091V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1091	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGGGTTCTGGATTTTCTCCT	0.333										HNSCC(38;0.096)			35	497					9.62906e-15	1.25713e-14	1	0	T	110445377	G	T	110445377	3	4	79	1	0	0	0	0	1	0	0	0	12044	1174	41	2	3382	2	PKHD1L1	8	110445377	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	13193487	110445377	35918645	81	15021											
EPPK1	83481	broad.mit.edu	37	chr8	144944117	144944117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtctcatccctggggCactcctccaggagctgggca	8	7	12	14	0	1	1	1	0	1	1	5	2	4	2	3	4	1	3	3	4	1	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:144944117C>A	ENST00000525985.1	-	2	3376	c.3305G>T	c.(3304-3306)tGc>tTc	p.C1102F				P58107	EPIPL_HUMAN	epiplakin 1	1102						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCCCTGGGGCACTCCTCCAG	0.657													12	19					2.27111e-07	2.75109e-07	1	0	A	144944117	C	A	144944117	3	1	79	1	0	0	0	0	1	0	0	0	5228	710	25	4	3961	4	EPPK1	8	144944117	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	34498740	144944117	1419905	82	15022											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	15					0	0	0	0	A	21971120	G	A	21971120	4	1	79	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08		21971120	119242311	83	15023											
PLAA	9373	broad.mit.edu	37	chr9	26913936	26913936	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagaacctggtacataaCgaccagcacctacaatacaa	16	7	6	12	1	0	1	0	0	0	1	0	2	0	1	3	1	7	3	3	1	7	5	rs150012469		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr9:26913936C>A	ENST00000397292.3	-	11	1913	c.1496G>T	c.(1495-1497)cGt>cTt	p.R499L	PLAA_ENST00000520884.1_Missense_Mutation_p.R499L	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	499					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TGGTACATAACGACCAGCACC	0.353													10	116					0.010729	0.0115129	1	0	A	26913936	C	A	26913936	3	1	79	1	0	0	0	0	1	0	0	0	12083	536	19	3	907	3	PLAA	9	26913936	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	4942816	26913936	114299495	84	15024											
PTCH1	5727	broad.mit.edu	37	chr9	98238315	98238315	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcatcaccagaagctcaCctggagggagaacgcccgca	11	5	10	15	2	3	2	3	0	0	2	3	4	3	3	4	2	2	2	4	2	2	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr9:98238315C>A	ENST00000430669.2	-	12	2116		c.e12+1		PTCH1_ENST00000437951.1_Splice_Site|PTCH1_ENST00000331920.6_Splice_Site|PTCH1_ENST00000429896.2_Splice_Site|PTCH1_ENST00000421141.1_Splice_Site|PTCH1_ENST00000375274.2_Splice_Site|PTCH1_ENST00000418258.1_Splice_Site			Q13635	PTC1_HUMAN	patched 1						embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CAGAAGCTCACCTGGAGGGAG	0.567													24	41					2.41591e-17	3.20757e-17	1	0	A	98238315	C	A	98238315	5	1	79	1	0	0	0	0	0	0	1	0	12809	521	18	4	2662	4	PTCH1	9	98238315	Splice_Site	SNP	C	TCGA-CN-5359-01A-01D-1434-08	71324379	98238315	42975116	85	15025											
ASTN2	23245	broad.mit.edu	37	chr9	119976896	119976896	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcacagatgggatgtagtgGatctcatgagtggcttctgt	9	12	14	6	0	2	2	1	1	2	1	3	4	2	4	0	3	1	3	0	3	1	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr9:119976896G>T	ENST00000313400.4	-	3	856	c.756C>A	c.(754-756)atC>atA	p.I252I	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.I252I|ASTN2_ENST00000373996.3_Silent_p.I252I			O75129	ASTN2_HUMAN	astrotactin 2	252						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGATGTAGTGGATCTCATGAG	0.627													34	44					1.06647e-15	1.40012e-15	1	0	T	119976896	G	T	119976896	2	4	79	1	0	0	0	0	0	0	0	1	1069	1164	41	2		2	ASTN2	9	119976896	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	21738581	119976896	21236535	86	15026											
OR1Q1	158131	broad.mit.edu	37	chr9	125377720	125377720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctcagccaagggcaggtGgaaaaccttttctacctgcg	9	8	10	14	1	2	0	1	0	1	0	2	1	2	1	5	3	4	1	5	3	4	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr9:125377720G>T	ENST00000297913.2	+	1	773	c.704G>T	c.(703-705)tGg>tTg	p.W235L	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						AAGGGCAGGTGGAAAACCTTT	0.557													48	165					1.81118e-26	2.43216e-26	1	0	T	125377720	G	T	125377720	3	4	79	1	0	0	0	0	1	0	0	0	11042	1357	47	4	706	4	OR1Q1	9	125377720	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	5400824	125377720	15835711	87	15027											
ADARB2	105	broad.mit.edu	37	chr10	1405308	1405308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgcagtgcggcctgcgcgGcctgaccccgggccagcttc	3	6	14	18	4	0	1	0	1	0	0	1	1	0	1	6	3	4	2	6	3	0	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:1405308G>A	ENST00000381312.1	-	3	1317	c.992C>T	c.(991-993)gCc>gTc	p.A331V		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	331	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGCCTGCGCGGCCTGACCCCG	0.751													3	21					0	0	0	0	A	1405308	G	A	1405308	3	1	79	1	0	0	0	0	1	0	0	0	283	1203	42	4	1259	4	ADARB2	10	1405308	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08		1405308	134129439	88	15028											
ARHGAP21	57584	broad.mit.edu	37	chr10	24909529	24909529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtccctgcaaagtagtgCggttggggacgacctggtta	7	10	15	9	3	0	0	0	0	0	0	2	2	1	1	2	4	2	4	2	4	3	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:24909529C>T	ENST00000396432.2	-	9	1781	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R219H	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	431					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CAAAGTAGTGCGGTTGGGGAC	0.488													4	132					0	0	0	0	T	24909529	C	T	24909529	3	4	79	1	0	0	0	0	1	0	0	0	873	768	27	1	4653	1	ARHGAP21	10	24909529	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	23504221	24909529	110625218	89	15029											
ZNF33A	7581	broad.mit.edu	37	chr10	38344239	38344239	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggaaagcctttagccAtaagtcagccctcacattac	12	10	8	11	0	2	0	2	0	0	0	2	1	2	1	3	1	4	0	3	1	4	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:38344239A>T	ENST00000374618.3	+	5	1365	c.1187A>T	c.(1186-1188)cAt>cTt	p.H396L	ZNF33A_ENST00000432900.2_Missense_Mutation_p.H402L|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Missense_Mutation_p.H395L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.H395L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	395						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GCCTTTAGCCATAAGTCAGCC	0.423													11	138					0	0	0	0	T	38344239	A	T	38344239	3	4	79	1	0	0	0	0	1	0	0	0	17949	217	8	5	1201	5	ZNF33A	10	38344239	Missense_Mutation	SNP	A	TCGA-CN-5359-01A-01D-1434-08	13434710	38344239	97190508	90	15030											
ZNF239	8187	broad.mit.edu	37	chr10	44053142	44053142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaccatttaacaatggcGaggccagttcttgtccatca	10	11	7	13	1	3	0	2	0	1	0	4	1	4	0	4	2	1	1	4	2	2	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:44053142G>A	ENST00000306006.6	-	2	1038	c.386C>T	c.(385-387)tCg>tTg	p.S129L	ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Missense_Mutation_p.S129L|ZNF239_ENST00000426961.1_Missense_Mutation_p.S129L|ZNF239_ENST00000535642.1_Missense_Mutation_p.S129L	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	p.S129L(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAACAATGGCGAGGCCAGTTC	0.413													9	239					0	0	0	0	A	44053142	G	A	44053142	3	1	79	1	0	0	0	0	1	0	0	0	17886	1059	37	1	994	1	ZNF239	10	44053142	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	5708903	44053142	91481605	91	15031											
CCDC6	8030	broad.mit.edu	37	chr10	61592406	61592406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctagttcggctttctcatgCtgcaactggaaaatgaaaaa	13	12	8	8	1	2	1	1	1	2	0	4	2	2	2	0	2	3	4	0	2	6	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:61592406C>A	ENST00000263102.6	-	3	690	c.459G>T	c.(457-459)caG>caT	p.Q153H		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	153	5 X 29 AA tandem repeats.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CTTTCTCATGCTGCAACTGGA	0.398			T	RET	NSCLC								6	63					0.0215528	0.0228149	1	0	A	61592406	C	A	61592406	3	1	79	1	0	0	0	0	1	0	0	0	2857	796	28	4	993	4	CCDC6	10	61592406	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	17539264	61592406	73942341	92	15032											
RGR	5995	broad.mit.edu	37	chr10	86012692	86012692	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccttctgggcagctctgccCcttctgggttggggtcacta	3	12	13	13	0	4	0	1	0	3	0	4	0	4	0	3	4	2	3	3	4	1	4	rs141356847		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:86012692C>A	ENST00000359452.4	+	4	488	c.450C>A	c.(448-450)ccC>ccA	p.P150P	RGR_ENST00000358110.5_Silent_p.P146P	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	146					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CAGCTCTGCCCCTTCTGGGTT	0.607													9	112					5.16669e-11	6.49289e-11	1	0	A	86012692	C	A	86012692	2	1	79	1	0	0	0	0	0	0	0	1	13374	610	22	4		4	RGR	10	86012692	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	24420286	86012692	49522055	93	15033											
GRID1	2894	broad.mit.edu	37	chr10	87614257	87614257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcctgaggcttaccttgCgcatgtctttgccaaaagtc	8	11	11	11	1	1	1	0	1	1	0	2	2	1	2	3	2	4	2	3	2	3	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:87614257C>T	ENST00000327946.7	-	8	1314	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	410						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCTTACCTTGCGCATGTCTTT	0.512										Multiple Myeloma(13;0.14)			9	65					0	0	0	0	T	87614257	C	T	87614257	3	4	79	1	0	0	0	0	1	0	0	0	6821	768	27	1	1836	1	GRID1	10	87614257	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	1601565	87614257	47920490	94	15034											
TRIM8	81603	broad.mit.edu	37	chr10	104416556	104416556	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtccccctgtacccttgCggcgtgagcagctctggggc	4	9	14	14	2	1	1	0	1	1	0	2	1	2	1	3	3	4	3	3	3	1	2	rs41300235	byFrequency	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:104416556C>T	ENST00000302424.6	+	6	1223	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	367						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	p.C367C(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGTACCCTTGCGGCGTGAGCA	0.647													5	235					0	0	0	0	T	104416556	C	T	104416556	2	4	79	1	0	0	0	0	0	0	0	1	16643	776	27	1		1	TRIM8	10	104416556	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	16802299	104416556	31118191	95	15035											
NUP98	4928	broad.mit.edu	37	chr11	3716751	3716751	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagtctgcttggagctgatgCcagtccaccaactgcatggt	8	10	12	11	0	1	1	0	1	1	0	2	3	2	2	3	2	5	3	3	2	1	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:3716751C>T	ENST00000324932.7	-	26	4515	c.4095G>A	c.(4093-4095)tgG>tgA	p.W1365*	NUP98_ENST00000488828.1_5'UTR|NUP98_ENST00000359171.4_Nonsense_Mutation_p.W1365*|NUP98_ENST00000355260.3_Nonsense_Mutation_p.W1365*	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1382					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GGAGCTGATGCCAGTCCACCA	0.483			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								4	187					0	0	0	0	T	3716751	C	T	3716751	4	4	79	1	0	0	0	0	0	1	0	0	10844	740	26	4	1339	4	NUP98	11	3716751	Nonsense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08		3716751	131289765	96	15036											
OR52E2	119678	broad.mit.edu	37	chr11	5080058	5080058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatatagcggggcacatttCggccaaagcgatgagtcata	12	8	13	8	3	1	1	1	1	0	0	2	3	1	2	1	4	2	1	1	4	4	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:5080058C>T	ENST00000321522.2	-	1	799	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGGCACATTTCGGCCAAAGCG	0.478													4	101					0	0	0	0	T	5080058	C	T	5080058	3	4	79	1	0	0	0	0	1	0	0	0	11186	884	31	1	180	1	OR52E2	11	5080058	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	1363307	5080058	129926458	97	15037											
OR52B2	255725	broad.mit.edu	37	chr11	6191298	6191298	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttatgtgcttgaagccaaaAgatggctagggccttgggca	10	10	14	7	0	0	2	0	1	0	1	0	2	0	2	2	3	2	4	2	3	5	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:6191298A>C	ENST00000530810.1	-	1	340	c.259T>G	c.(259-261)Ttt>Gtt	p.F87V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAAGCCAAAAGATGGCTAGG	0.493													16	160					0	0	0	0	C	6191298	A	C	6191298	3	2	79	1	0	0	0	0	1	0	0	0	11182	72	3	5	715	5	OR52B2	11	6191298	Missense_Mutation	SNP	A	TCGA-CN-5359-01A-01D-1434-08	1111240	6191298	128815218	98	15038											
SERGEF	26297	broad.mit.edu	37	chr11	17981067	17981067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaaggcatgctgttcggtgGtcttgaacaggggagaaatg	10	9	16	6	2	1	2	0	1	1	1	2	4	1	2	0	5	2	3	0	5	3	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:17981067G>A	ENST00000265965.5	-	9	1112	c.961C>T	c.(961-963)Cca>Tca	p.P321S	SERGEF_ENST00000528200.1_Intron|SERGEF_ENST00000532265.1_Intron	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	321					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CTGTTCGGTGGTCTTGAACAG	0.478													11	76					0	0	0	0	A	17981067	G	A	17981067	3	1	79	1	0	0	0	0	1	0	0	0	14164	1261	44	4	427	4	SERGEF	11	17981067	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	11789769	17981067	117025449	99	15039											
ANO5	203859	broad.mit.edu	37	chr11	22296150	22296150	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttacgtcagacatcattccCcgtctagtttactactatgc	9	15	5	12	2	3	1	2	0	1	1	4	1	4	1	2	0	4	1	2	0	5	8			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:22296150C>A	ENST00000324559.8	+	20	2588	c.2271C>A	c.(2269-2271)ccC>ccA	p.P757P	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	757						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACATCATTCCCCGTCTAGTTT	0.358													10	171					0.000978159	0.00107919	1	0	A	22296150	C	A	22296150	2	1	79	1	0	0	0	0	0	0	0	1	699	610	22	4		4	ANO5	11	22296150	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	4315083	22296150	112710366	100	15040											
PTPRJ	5795	broad.mit.edu	37	chr11	48181492	48181492	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttctagaccaaatgtgAggagtattggccctccaagc	10	12	10	9	0	1	2	0	1	1	1	2	3	2	3	3	2	1	2	3	2	4	5			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:48181492A>T	ENST00000418331.2	+	22	3801	c.3449A>T	c.(3448-3450)gAg>gTg	p.E1150V		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1150	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACCAAATGTGAGGAGTATTGG	0.423													16	148					0	0	0	0	T	48181492	A	T	48181492	3	4	79	1	0	0	0	0	1	0	0	0	12886	304	11	5	3544	5	PTPRJ	11	48181492	Missense_Mutation	SNP	A	TCGA-CN-5359-01A-01D-1434-08	25885342	48181492	86825024	101	15041											
APLNR	187	broad.mit.edu	37	chr11	57003872	57003872	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccacggtggtggacgagaCcccaaggcccacctcccagg	8	3	13	17	2	0	1	0	0	0	1	1	3	1	2	6	5	0	0	6	5	1	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:57003872C>G	ENST00000606794.1	-	1	803	c.607G>C	c.(607-609)Gtc>Ctc	p.V203L		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	203						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GTGGACGAGACCCCAAGGCCC	0.592													8	69					0	0	0	0	G	57003872	C	G	57003872	3	3	79	1	0	0	0	0	1	0	0	0	779	507	18	4	539	4	APLNR	11	57003872	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	8822380	57003872	78002644	102	15042											
ZFP91	80829	broad.mit.edu	37	chr11	58384739	58384739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatgaagaaacatgatgcaGactccttctaccagttttct	13	12	6	10	0	2	4	0	2	2	2	3	4	3	4	2	0	3	2	2	0	3	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:58384739G>A	ENST00000316059.6	+	11	1444	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.D425N	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	425					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ACATGATGCAGACTCCTTCTA	0.428													11	132					0	0	0	0	A	58384739	G	A	58384739	3	1	79	1	0	0	0	0	1	0	0	0	17750	942	33	2	1315	2	ZFP91	11	58384739	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	1380867	58384739	76621777	103	15043											
MS4A6A	64231	broad.mit.edu	37	chr11	59943062	59943062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacagagcactcagaatgCttccaaccaggctgctatgc	12	7	9	13	0	1	3	1	0	0	3	2	3	2	3	2	1	5	4	2	1	3	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:59943062C>T	ENST00000528851.1	-	5	502	c.362G>A	c.(361-363)aGc>aAc	p.S121N	MS4A6A_ENST00000412309.2_Missense_Mutation_p.S149N|MS4A6A_ENST00000533023.1_Missense_Mutation_p.S57N|MS4A6A_ENST00000530839.1_Missense_Mutation_p.S121N|MS4A6A_ENST00000420732.2_Missense_Mutation_p.S121N|MS4A6A_ENST00000323961.3_Missense_Mutation_p.S121N|MS4A6A_ENST00000529054.1_Missense_Mutation_p.S149N|MS4A6A_ENST00000426738.2_Missense_Mutation_p.S76N			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	121						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTCAGAATGCTTCCAACCAG	0.438													35	84					0	0	0	0	T	59943062	C	T	59943062	3	4	79	1	0	0	0	0	1	0	0	0	9934	797	28	4	423	4	MS4A6A	11	59943062	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	1558323	59943062	75063454	104	15044											
INTS5	80789	broad.mit.edu	37	chr11	62415548	62415548	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaagctgacaggctgaGgccacacctgggggtccatg	9	6	16	10	0	0	3	0	3	0	1	1	4	1	3	3	4	1	2	3	4	1	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:62415548G>A	ENST00000330574.2	-	2	2056	c.2004C>T	c.(2002-2004)gcC>gcT	p.A668A		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	668					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GACAGGCTGAGGCCACACCTG	0.612													4	71					0	0	0	0	A	62415548	G	A	62415548	2	1	79	1	0	0	0	0	0	0	0	1	7834	987	35	4		4	INTS5	11	62415548	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	2472486	62415548	72590968	105	15045											
ARHGEF17	9828	broad.mit.edu	37	chr11	73074856	73074856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcatgaagctccagcatGcggcctctgtgacctgcatc	9	8	10	14	1	1	2	0	2	1	0	3	2	2	2	3	1	5	4	3	1	1	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:73074856G>A	ENST00000263674.3	+	16	5661	c.5311G>A	c.(5311-5313)Gcg>Acg	p.A1771T		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1771					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCTCCAGCATGCGGCCTCTGT	0.582													17	85					0	0	0	0	A	73074856	G	A	73074856	3	1	79	1	0	0	0	0	1	0	0	0	902	1319	46	4	5373	4	ARHGEF17	11	73074856	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	10659308	73074856	61931660	106	15046											
NARS2	79731	broad.mit.edu	37	chr11	78176976	78176976	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaaggcttgagtgttaaTggataattaataacgaagac	17	11	10	3	1	0	3	0	1	0	2	0	5	0	4	0	2	1	2	0	2	7	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:78176976T>C	ENST00000281038.5	-	11	1485	c.1110A>G	c.(1108-1110)ccA>ccG	p.P370P	NARS2_ENST00000528850.1_Silent_p.P143P	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	370					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TGAGTGTTAATGGATAATTAA	0.428													10	120					0	0	0	0	C	78176976	T	C	78176976	2	2	79	1	0	0	0	0	0	0	0	1	10241	1451	51	5		5	NARS2	11	78176976	Silent	SNP	T	TCGA-CN-5359-01A-01D-1434-08	5102120	78176976	56829540	107	15047											
FAT3	120114	broad.mit.edu	37	chr11	92085715	92085715	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatggaccaaagtgaataTacaggttttagatatgaatg	16	11	10	4	0	0	3	0	2	0	1	0	4	0	4	1	2	2	2	1	2	7	5			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:92085715T>C	ENST00000298047.6	+	1	454	c.437T>C	c.(436-438)aTa>aCa	p.I146T	FAT3_ENST00000541502.1_Missense_Mutation_p.I146T|FAT3_ENST00000409404.2_Missense_Mutation_p.I146T|FAT3_ENST00000525166.1_5'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	146	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAAGTGAATATACAGGTTTTA	0.378										TCGA Ovarian(4;0.039)			6	61					0	0	0	0	C	92085715	T	C	92085715	3	2	79	1	0	0	0	0	1	0	0	0	5736	1406	49	5	439	5	FAT3	11	92085715	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	13908739	92085715	42920801	108	15048											
ARHGEF12	23365	broad.mit.edu	37	chr11	120352147	120352147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatttcaccattcaccccCgaatttctggtccagcagcg	9	10	7	15	2	3	0	2	0	1	0	4	1	4	0	4	1	2	2	4	1	2	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:120352147C>T	ENST00000397843.2	+	39	4582	c.4416C>T	c.(4414-4416)ccC>ccT	p.P1472P	ARHGEF12_ENST00000532993.1_Silent_p.P1369P|ARHGEF12_ENST00000356641.3_Silent_p.P1453P	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1472					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CATTCACCCCCGAATTTCTGG	0.532			T	MLL	AML								6	95					0	0	0	0	T	120352147	C	T	120352147	2	4	79	1	0	0	0	0	0	0	0	1	899	639	23	1		1	ARHGEF12	11	120352147	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	28266432	120352147	14654369	109	15049											
SIAE	54414	broad.mit.edu	37	chr11	124524555	124524555	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagccgtcacatacctgaGgtgggcttagaccactgcaa	11	8	10	12	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	4	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:124524555G>C	ENST00000263593.3	-	4	712	c.540C>G	c.(538-540)acC>acG	p.T180T	SIAE_ENST00000545756.1_Silent_p.T145T			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	180						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		ACATACCTGAGGTGGGCTTAG	0.483													21	234					0	0	0	0	C	124524555	G	C	124524555	2	2	79	1	0	0	0	0	0	0	0	1	14386	987	35	4		4	SIAE	11	124524555	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	4172408	124524555	10481961	110	15050											
ACAD8	27034	broad.mit.edu	37	chr11	134131756	134131756	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccttgtgctccatggccaAgctctttgctacagatgaat	8	12	10	11	0	1	2	0	1	1	1	2	2	2	2	3	2	4	3	3	2	3	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:134131756A>T	ENST00000281182.4	+	9	1170	c.1064A>T	c.(1063-1065)aAg>aTg	p.K355M	ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000537423.1_Missense_Mutation_p.K278M|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000374752.4_Missense_Mutation_p.K228M	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	355					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		TCCATGGCCAAGCTCTTTGCT	0.582													4	54					0	0	0	0	T	134131756	A	T	134131756	3	4	79	1	0	0	0	0	1	0	0	0	110	72	3	5	1098	5	ACAD8	11	134131756	Missense_Mutation	SNP	A	TCGA-CN-5359-01A-01D-1434-08	9607201	134131756	874760	111	15051											
WNK1	65125	broad.mit.edu	37	chr12	1009828	1009828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaccaagcctttctgctcCaggtcaaggtaataaagcaa	14	9	8	10	0	2	0	1	0	1	0	3	0	3	0	3	2	4	4	3	2	7	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:1009828C>A	ENST00000537687.1	+	26	8058	c.7415C>A	c.(7414-7416)cCa>cAa	p.P2472Q	WNK1_ENST00000315939.6_Missense_Mutation_p.P2212Q|WNK1_ENST00000340908.4_Missense_Mutation_p.P1805Q|WNK1_ENST00000530271.2_Missense_Mutation_p.P2710Q|WNK1_ENST00000535572.1_Missense_Mutation_p.P1964Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2212					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.P2212Q(1)|p.P2472Q(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTTCTGCTCCAGGTCAAGGT	0.473													7	530					0.000157383	0.000177813	1	0	A	1009828	C	A	1009828	3	1	79	1	0	0	0	0	1	0	0	0	17473	594	21	4	8239	4	WNK1	12	1009828	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08		1009828	132842067	112	15052											
SCNN1A	6337	broad.mit.edu	37	chr12	6457162	6457162	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagagggagcagggccTggctgggacaaggacagaga	11	3	20	7	0	0	2	0	0	0	2	0	7	0	5	1	6	1	3	1	6	1	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:6457162T>C	ENST00000358945.3	-	13	2393	c.1953A>G	c.(1951-1953)ccA>ccG	p.P651P	SCNN1A_ENST00000228916.2_Silent_p.P629P|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000540037.1_Silent_p.P329P|SCNN1A_ENST00000543768.1_Silent_p.P652P|SCNN1A_ENST00000360168.3_Silent_p.P688P			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	629					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	gagcagggcctggctgggaca	0.697													4	14					0	0	0	0	C	6457162	T	C	6457162	2	2	79	1	0	0	0	0	0	0	0	1	14014	1567	55	5		5	SCNN1A	12	6457162	Silent	SNP	T	TCGA-CN-5359-01A-01D-1434-08	5447334	6457162	127394733	113	15053											
USP5	8078	broad.mit.edu	37	chr12	6972476	6972481	+	In_Frame_Del	DEL	GCCTTG	GCCTTG	-																															tccggatgagcccaaaggtaGccttggtttctatggcaacg																										TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:6972476_6972481delGCCTTG	ENST00000229268.8	+	15	1941_1946	c.1889_1894delGCCTTG	c.(1888-1896)agt>a	p.SLG630del	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Intron	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	630					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CCCAAAGGTAGCCTTGGTTTCTATGG	0.587													22	186	---	---	---	---					-	6972481	GCCTTG	-	6972476	7	5	79	1	0	1	0	1	0	0	0	0	17177	971	34	0	1947	0	USP5	12	6972476	In_Frame_Del	DEL	GCCTTG	TCGA-CN-5359-01A-01D-1434-08	515314	6972476	126879419	114	15054											
RIMKLB	57494	broad.mit.edu	37	chr12	8926168	8926168	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggctcacccggcgtatgTccctgctctccgtggtgtcc	2	10	12	17	4	2	0	1	0	1	0	5	0	4	0	5	3	1	3	5	3	1	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:8926168T>C	ENST00000357529.3	+	7	2211	c.949T>C	c.(949-951)Tcc>Ccc	p.S317P	RIMKLB_ENST00000535829.1_Missense_Mutation_p.S317P|RIMKLB_ENST00000538135.1_Missense_Mutation_p.S317P|RIMKLB_ENST00000299673.5_Intron	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	317					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCGGCGTATGTCCCTGCTCTC	0.562													29	108					0	0	0	0	C	8926168	T	C	8926168	3	2	79	1	0	0	0	0	1	0	0	0	13451	1667	58	5	967	5	RIMKLB	12	8926168	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	1953692	8926168	124925727	115	15055											
ADAMTS20	80070	broad.mit.edu	37	chr12	43944862	43944862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctcggtgtagccggcGgccagaaaggatgcatcggc	8	6	15	12	4	0	1	0	0	0	1	2	2	0	2	3	5	3	3	3	5	2	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:43944862G>A	ENST00000389420.3	-	2	302	c.303C>T	c.(301-303)gcC>gcT	p.A101A	ADAMTS20_ENST00000553158.1_Silent_p.A101A	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	101						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGTAGCCGGCGGCCAGAAAGG	0.682													8	18					0	0	0	0	A	43944862	G	A	43944862	2	1	79	1	0	0	0	0	0	0	0	1	266	1103	39	1		1	ADAMTS20	12	43944862	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	35018694	43944862	89907033	116	15056											
CCDC64	92558	broad.mit.edu	37	chr12	120527826	120527826	+	Frame_Shift_Del	DEL	A	A	-																															tctgaacagccagttgctggAtgccattcagcagaaactga																										TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:120527826delA	ENST00000397558.2	+	8	1511	c.1511delA	c.(1510-1512)gtfs	p.D504fs	CCDC64_ENST00000446727.2_Frame_Shift_Del_p.D175fs|CCDC64_ENST00000257583.4_Frame_Shift_Del_p.D201fs	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	504					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGTTGCTGGATGCCATTCAG	0.532													34	126	---	---	---	---					-	120527826	A	-	120527826	7	5	79	1	0	1	0	1	0	0	0	0	2862	333	12	0	1541	0	CCDC64	12	120527826	Frame_Shift_Del	DEL	A	TCGA-CN-5359-01A-01D-1434-08	76582964	120527826	13324069	117	15057											
TRPC4	7223	broad.mit.edu	37	chr13	38237583	38237583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattattctgcttttcacatCttatgcctttgcaggttaac	8	18	5	10	0	3	0	1	0	2	0	3	0	3	0	1	1	4	3	1	1	3	7			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:38237583C>A	ENST00000379705.3	-	6	2515	c.1658G>T	c.(1657-1659)aGa>aTa	p.R553I	TRPC4_ENST00000379673.2_Missense_Mutation_p.R553I|TRPC4_ENST00000379679.1_Missense_Mutation_p.R380I|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.R553I|TRPC4_ENST00000379681.3_Missense_Mutation_p.R553I|TRPC4_ENST00000358477.2_Missense_Mutation_p.R553I|TRPC4_ENST00000447043.1_Missense_Mutation_p.R553I|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.R380I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	553					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)		CTTTTCACATCTTATGCCTTT	0.353													10	65					2.80697e-09	3.49015e-09	1	0	A	38237583	C	A	38237583	3	1	79	1	0	0	0	0	1	0	0	0	16675	913	32	2	1314	2	TRPC4	13	38237583	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08		38237583	76932295	118	15058											
ENOX1	55068	broad.mit.edu	37	chr13	43918857	43918857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatccaggaaagcagcaCtgtgatagcctctgaaaact	14	9	8	10	0	2	2	1	2	1	0	3	3	3	3	2	1	4	2	2	1	5	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:43918857C>T	ENST00000261488.6	-	9	1430	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	ENOX1_ENST00000412891.1_Missense_Mutation_p.V285M|ENOX1_ENST00000540032.1_Missense_Mutation_p.V98M	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	285					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GAAAGCAGCACTGTGATAGCC	0.468													8	85					0	0	0	0	T	43918857	C	T	43918857	3	4	79	1	0	0	0	0	1	0	0	0	5164	565	20	4	1114	4	ENOX1	13	43918857	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	5681274	43918857	71251021	119	15059											
KLHL1	57626	broad.mit.edu	37	chr13	70456501	70456501	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtcatacttgacccacaTcatcaatgcatggaagatgg	13	10	8	10	0	3	2	3	1	0	1	3	3	3	3	1	2	2	1	1	2	3	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:70456501T>A	ENST00000377844.4	-	5	1900	c.1141A>T	c.(1141-1143)Atg>Ttg	p.M381L	KLHL1_ENST00000545028.1_Missense_Mutation_p.M188L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	381					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTGACCCACATCATCAATGCA	0.443													27	110					0	0	0	0	A	70456501	T	A	70456501	3	1	79	1	0	0	0	0	1	0	0	0	8417	1435	50	5	1133	5	KLHL1	13	70456501	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	26537644	70456501	44713377	120	15060											
DACH1	1602	broad.mit.edu	37	chr13	72204713	72204713	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgaattcatgtccccgttTtcagagtctgctccatgttg	6	16	8	11	1	3	2	2	1	1	1	5	2	5	2	3	0	1	3	3	0	1	5			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:72204713T>A	ENST00000305425.4	-	3	1529	c.1107A>T	c.(1105-1107)gaA>gaT	p.E369D	DACH1_ENST00000359684.2_Missense_Mutation_p.E369D|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Missense_Mutation_p.E369D	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	367	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGTCCCCGTTTTCAGAGTCTG	0.378													46	473					0	0	0	0	A	72204713	T	A	72204713	3	1	79	1	0	0	0	0	1	0	0	0	4253	1838	64	5	1055	5	DACH1	13	72204713	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	1748212	72204713	42965165	121	15061											
OR4K1	79544	broad.mit.edu	37	chr14	20404174	20404174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagatgatgttgcttgtaGctatggcatatgacagattt	10	15	12	4	0	0	4	0	3	0	2	0	5	0	4	0	1	2	5	0	1	3	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr14:20404174G>T	ENST00000285600.4	+	1	408	c.349G>T	c.(349-351)Gct>Tct	p.A117S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTTGCTTGTAGCTATGGCATA	0.418													16	163					0.000422831	0.000473169	1	0	T	20404174	G	T	20404174	3	4	79	1	0	0	0	0	1	0	0	0	11138	971	34	4	351	4	OR4K1	14	20404174	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08		20404174	86945366	122	15062											
EXOC5	10640	broad.mit.edu	37	chr14	57676773	57676773	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgtccaatcatacaattTaatgtcctagagaattgaga	15	13	6	7	0	2	2	1	1	1	2	4	4	4	2	2	0	1	0	2	0	6	5			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr14:57676773T>G	ENST00000413566.2	-	16	1979	c.1620A>C	c.(1618-1620)ttA>ttC	p.L540F	EXOC5_ENST00000340918.7_Missense_Mutation_p.L475F	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	540					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TCATACAATTTAATGTCCTAG	0.269													6	30					0	0	0	0	G	57676773	T	G	57676773	3	3	79	1	0	0	0	0	1	0	0	0	5344	1751	61	5	518	5	EXOC5	14	57676773	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	37272599	57676773	49672767	123	15063											
ZFP36L1	677	broad.mit.edu	37	chr14	69256577	69256577	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtcatcggcgctcagaatAgggggtggggtgatggacgt	8	8	19	6	3	2	2	2	1	0	1	3	3	2	3	0	7	0	1	0	7	2	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr14:69256577A>T	ENST00000439696.2	-	2	991	c.690T>A	c.(688-690)ccT>ccA	p.P230P	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.P230P	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	230					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGCTCAGAATAGGGGGTGGGG	0.637											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	197					0	0	0	0	T	69256577	A	T	69256577	2	4	79	1	0	0	0	0	0	0	0	1	17741	407	15	5		5	ZFP36L1	14	69256577	Silent	SNP	A	TCGA-CN-5359-01A-01D-1434-08	11579804	69256577	38092963	124	15064											
SPTLC2	9517	broad.mit.edu	37	chr14	78063666	78063666	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagcattggtgtttcttCaaaagcttcattaaacggtc	12	13	7	9	1	3	0	2	0	1	0	4	0	3	0	1	2	4	3	1	2	5	5			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr14:78063666C>A	ENST00000216484.2	-	2	383	c.190G>T	c.(190-192)Gaa>Taa	p.E64*		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	64				EAFE -> TLAR (in Ref. 5; AAC50871).		integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGTGTTTCTTCAAAAGCTTCA	0.383													5	80					0.0215528	0.0228149	1	0	A	78063666	C	A	78063666	4	1	79	1	0	0	0	0	0	1	0	0	15214	835	29	2	1542	2	SPTLC2	14	78063666	Nonsense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	8807089	78063666	29285874	125	15065											
MKRN3	7681	broad.mit.edu	37	chr15	23811027	23811027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgtctgggccggaccttcCcgtctgtgagccctccgggg	2	10	15	14	3	2	1	0	1	2	0	4	2	4	2	5	4	1	0	5	4	0	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:23811027C>T	ENST00000314520.3	+	1	574	c.98C>T	c.(97-99)cCc>cTc	p.P33L	MKRN3_ENST00000568252.1_Missense_Mutation_p.P33L|MKRN3_ENST00000564592.1_Missense_Mutation_p.P33L	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	33						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CCGGACCTTCCCGTCTGTGAG	0.682													8	91					0	0	0	0	T	23811027	C	T	23811027	3	4	79	1	0	0	0	0	1	0	0	0	9677	623	22	4	100	4	MKRN3	15	23811027	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08		23811027	78720365	126	15066											
CHRM5	1133	broad.mit.edu	37	chr15	34355730	34355730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaggaaccaggcctcctGgtcatcctcccgcaggagca	10	5	12	14	1	1	0	1	0	0	0	4	3	4	3	5	5	2	2	5	5	2	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:34355730G>T	ENST00000383263.5	+	3	1482	c.812G>T	c.(811-813)tGg>tTg	p.W271L	CHRM5_ENST00000557872.1_Missense_Mutation_p.W271L	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	271					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CAGGCCTCCTGGTCATCCTCC	0.612													8	109					0.0381472	0.0402	1	0	T	34355730	G	T	34355730	3	4	79	1	0	0	0	0	1	0	0	0	3409	1357	47	4	814	4	CHRM5	15	34355730	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	10544703	34355730	68175662	127	15067											
RPUSD2	27079	broad.mit.edu	37	chr15	40866110	40866110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcctggatgtgctagatCtctgtgagggtgacctgtcc	7	11	14	9	0	1	4	0	2	1	2	3	5	2	5	3	2	2	1	3	2	1	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:40866110C>A	ENST00000315616.7	+	3	1326	c.1288C>A	c.(1288-1290)Ctc>Atc	p.L430I	RPUSD2_ENST00000559271.1_Missense_Mutation_p.L369I	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	430					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TGTGCTAGATCTCTGTGAGGG	0.597													16	123					1.15919e-05	1.35527e-05	1	0	A	40866110	C	A	40866110	3	1	79	1	0	0	0	0	1	0	0	0	13752	913	32	2	1298	2	RPUSD2	15	40866110	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	6510380	40866110	61665282	128	15068											
VPS13C	54832	broad.mit.edu	37	chr15	62254687	62254701	+	In_Frame_Del	DEL	ATACAAATCCAAATT	ATACAAATCCAAATT	-																															tccccctcagtagcatctggAtacaaatccaaattaaaacg																										TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:62254687_62254701delATACAAATCCAAATT	ENST00000261517.5	-	34	3545_3559	c.3472_3486delAATTTGGATTTGTAT	c.(3472-3486)del	p.NLDLY1158del	VPS13C_ENST00000395898.3_In_Frame_Del_p.NLDLY1115del|VPS13C_ENST00000249837.3_In_Frame_Del_p.NLDLY1115del|VPS13C_ENST00000395896.4_In_Frame_Del_p.NLDLY1158del	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1158					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TAGCATCTGGATACAAATCCAAATTAAAACGGAAA	0.367													22	322	---	---	---	---					-	62254701	ATACAAATCCAAATT	-	62254687	7	5	79	1	0	1	0	1	0	0	0	0	17287	340	12	0	8011	0	VPS13C	15	62254687	In_Frame_Del	DEL	ATACAAATCCAAATT	TCGA-CN-5359-01A-01D-1434-08	21388577	62254687	40276705	129	15069											
RASGRF1	5923	broad.mit.edu	37	chr15	79254558	79254558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatccattacaaaagattgGtccagtaaatattgcgttac	14	13	6	8	1	1	1	1	0	0	1	3	1	3	1	2	1	3	2	2	1	7	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:79254558G>T	ENST00000419573.3	-	28	4024	c.3750C>A	c.(3748-3750)gaC>gaA	p.D1250E	RASGRF1_ENST00000558480.2_Missense_Mutation_p.D1234E|RASGRF1_ENST00000394745.3_Missense_Mutation_p.D466E	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1252	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAAAAGATTGGTCCAGTAAAT	0.463													5	21					1.06961e-07	1.30238e-07	1	0	T	79254558	G	T	79254558	3	4	79	1	0	0	0	0	1	0	0	0	13154	1252	44	4	75	4	RASGRF1	15	79254558	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	16999871	79254558	23276834	130	15070											
MTHFS	10588	broad.mit.edu	37	chr15	80181668	80181668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaagatggaaattcttttgGacttttgatactcactgtgg	11	15	10	5	0	2	2	1	1	1	1	2	5	2	4	0	3	1	0	0	3	3	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:80181668G>A	ENST00000258874.3	-	2	206	c.146C>T	c.(145-147)tCc>tTc	p.S49F	ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.S25F|MTHFS_ENST00000559722.1_5'UTR|ST20-MTHFS_ENST00000494999.1_5'UTR	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	49					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		AATTCTTTTGGACTTTTGATA	0.378													8	179					0	0	0	0	A	80181668	G	A	80181668	3	1	79	1	0	0	0	0	1	0	0	0	10002	1174	41	2	473	2	MTHFS	15	80181668	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	927110	80181668	22349724	131	15071											
KIAA1199	57214	broad.mit.edu	37	chr15	81176553	81176553	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagaaagagagtgaacgtCtggtccagtatttgaacgcg	13	8	12	8	3	1	4	0	2	1	2	2	5	2	4	2	1	2	1	2	1	5	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:81176553C>G	ENST00000394685.3	+	7	1074	c.655C>G	c.(655-657)Ctg>Gtg	p.L219V	KIAA1199_ENST00000220244.3_Missense_Mutation_p.L219V|KIAA1199_ENST00000356249.5_Missense_Mutation_p.L219V			Q8WUJ3	K1199_HUMAN	KIAA1199	219										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAGTGAACGTCTGGTCCAGTA	0.468													4	274					0	0	0	0	G	81176553	C	G	81176553	3	3	79	1	0	0	0	0	1	0	0	0	8264	912	32	2	673	2	KIAA1199	15	81176553	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	994885	81176553	21354839	132	15072											
SV2B	9899	broad.mit.edu	37	chr15	91769847	91769847	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttttcgtcttgggtttggcCctgatggccgatggggtgga	3	15	16	7	2	1	1	0	1	1	0	2	3	1	2	2	6	0	1	2	6	0	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:91769847C>A	ENST00000394232.1	+	2	824	c.354C>A	c.(352-354)gcC>gcA	p.A118A	SV2B_ENST00000330276.4_Silent_p.A118A|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	118					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGGTTTGGCCCTGATGGCCG	0.537													8	76					0.000442599	0.000492942	1	0	A	91769847	C	A	91769847	2	1	79	1	0	0	0	0	0	0	0	1	15508	610	22	4		4	SV2B	15	91769847	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	10593294	91769847	10761545	133	15073											
RHBDF1	64285	broad.mit.edu	37	chr16	110495	110495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccgcaagctctggggCgctgggatggatgggccact	5	7	18	11	2	1	0	0	0	1	0	1	2	1	2	2	6	1	3	2	6	1	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:110495C>T	ENST00000262316.6	-	12	1742	c.1600G>A	c.(1600-1602)Gcc>Acc	p.A534T		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	534					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCTCTGGGGCGCTGGGATGG	0.632													11	113					0	0	0	0	T	110495	C	T	110495	3	4	79	1	0	0	0	0	1	0	0	0	13402	768	27	1	995	1	RHBDF1	16	110495	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08		110495	90244258	134	15074											
ABAT	18	broad.mit.edu	37	chr16	8866736	8866736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggagacaaccacgcatccGatgacttctttcggaagctg	10	9	11	11	3	1	2	0	1	1	1	3	5	2	3	2	2	2	2	2	2	2	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:8866736G>A	ENST00000396600.2	+	12	1854	c.916G>A	c.(916-918)Gat>Aat	p.D306N	ABAT_ENST00000569156.1_Missense_Mutation_p.D306N|ABAT_ENST00000268251.8_Missense_Mutation_p.D306N|ABAT_ENST00000567812.1_Missense_Mutation_p.D321N|ABAT_ENST00000425191.2_Missense_Mutation_p.D306N	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	306					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CCACGCATCCGATGACTTCTT	0.552													5	56					0	0	0	0	A	8866736	G	A	8866736	3	1	79	1	0	0	0	0	1	0	0	0	27	1058	37	1	958	1	ABAT	16	8866736	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	8756241	8866736	81488017	135	15075											
ABCC1	4363	broad.mit.edu	37	chr16	16101762	16101762	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtgccttgtttttacctCtgggcctgtttccccttcta	2	18	9	12	0	2	0	0	0	2	0	3	0	3	0	5	2	2	2	5	2	2	7			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:16101762C>T	ENST00000399408.2	+	2	313	c.138C>T	c.(136-138)ctC>ctT	p.L46L	ABCC1_ENST00000351154.5_Silent_p.L46L|ABCC1_ENST00000345148.5_Silent_p.L46L|ABCC1_ENST00000349029.5_Silent_p.L46L|ABCC1_ENST00000346370.5_Silent_p.L46L|ABCC1_ENST00000399410.3_Silent_p.L46L			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	46					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)	GTTTTTACCTCTGGGCCTGTT	0.507													16	201					0	0	0	0	T	16101762	C	T	16101762	2	4	79	1	0	0	0	0	0	0	0	1	49	900	32	2		2	ABCC1	16	16101762	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	7235026	16101762	74252991	136	15076											
PRKCB	5579	broad.mit.edu	37	chr16	24192240	24192240	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcactccagactacatCgcccccgaggtgagagctgc	8	7	12	14	2	0	2	0	1	0	2	2	4	1	2	3	2	3	2	3	2	1	1	rs17847876		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:24192240C>A	ENST00000303531.7	+	13	1676	c.1524C>A	c.(1522-1524)atC>atA	p.I508I	PRKCB_ENST00000321728.7_Silent_p.I508I	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	508	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.I508I(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CAGACTACATCGCCCCCGAGG	0.542													15	130					7.93312e-07	9.46337e-07	1	0	A	24192240	C	A	24192240	2	1	79	1	0	0	0	0	0	0	0	1	12588	874	31	3		3	PRKCB	16	24192240	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	8090478	24192240	66162513	137	15077											
SIAH1	6477	broad.mit.edu	37	chr16	48399363	48399363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccctccaggagtacagaGaaggtggagtagcctttccc	9	8	11	13	0	0	1	0	0	0	1	3	4	3	3	5	3	2	2	5	3	3	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:48399363G>A	ENST00000356721.3	-	1	449	c.26C>T	c.(25-27)tCt>tTt	p.S9F	SIAH1_ENST00000573005.1_5'UTR|SIAH1_ENST00000394725.2_Intron	NM_001006610.1	NP_001006611.1	Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	0					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GGAGTACAGAGAAGGTGGAGT	0.517													13	38					0	0	0	0	A	48399363	G	A	48399363	3	1	79	1	0	0	0	0	1	0	0	0	14387	942	33	2	923	2	SIAH1	16	48399363	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	24207123	48399363	41955390	138	15078											
NAE1	8883	broad.mit.edu	37	chr16	66837006	66837006	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgattattttgatgaccTcttgagcagcagctcctgaa	9	14	10	8	0	1	5	0	5	1	0	2	5	2	5	2	1	3	3	2	1	2	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:66837006T>C	ENST00000379463.2	-	21	1685	c.1493A>G	c.(1492-1494)gAg>gGg	p.E498G	NAE1_ENST00000359087.4_Missense_Mutation_p.E507G|NAE1_ENST00000394074.2_Missense_Mutation_p.E415G|NAE1_ENST00000290810.3_Missense_Mutation_p.E504G	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	504					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTTGATGACCTCTTGAGCAGC	0.328													7	63					0	0	0	0	C	66837006	T	C	66837006	3	2	79	1	0	0	0	0	1	0	0	0	10209	1551	54	5	97	5	NAE1	16	66837006	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	18437643	66837006	23517747	139	15079											
TP53	7157	broad.mit.edu	37	chr17	7578247	7578247	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccaaatactccacacgcAaatttccttccactcggata	13	10	3	15	2	0	0	0	0	0	0	5	1	4	1	4	1	1	1	4	1	4	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:7578247A>T	ENST00000420246.2	-	6	734	c.602T>A	c.(601-603)tTg>tAg	p.L201*	TP53_ENST00000455263.2_Nonsense_Mutation_p.L201*|TP53_ENST00000445888.2_Nonsense_Mutation_p.L201*|TP53_ENST00000413465.2_Nonsense_Mutation_p.L201*|TP53_ENST00000359597.4_Nonsense_Mutation_p.L201*|TP53_ENST00000269305.4_Nonsense_Mutation_p.L201*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	201	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; somatic mutation).|LR -> FC (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.N200fs*4(1)|p.L201P(1)|p.L201S(1)|p.E198fs*7(1)|p.L201fs*46(1)|p.P191fs*6(1)|p.G199fs*42(1)|p.L201*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCCACACGCAAATTTCCTTC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	64					0	0	0	0	T	7578247	A	T	7578247	4	4	79	1	0	0	0	0	0	1	0	0	16476	131	5	5	692	5	TP53	17	7578247	Nonsense_Mutation	SNP	A	TCGA-CN-5359-01A-01D-1434-08		7578247	73616963	140	15080											
PFAS	5198	broad.mit.edu	37	chr17	8170877	8170877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttcgcaggtatgggaCgtgaccatgcaggacctctg	8	8	12	13	2	1	1	0	1	1	0	2	3	1	3	4	3	1	3	4	3	1	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:8170877C>T	ENST00000314666.6	+	26	3409	c.3276C>T	c.(3274-3276)gaC>gaT	p.D1092D	PFAS_ENST00000545834.1_Silent_p.D668D	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1092	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGGTATGGGACGTGACCATGC	0.637													18	155					0	0	0	0	T	8170877	C	T	8170877	2	4	79	1	0	0	0	0	0	0	0	1	11826	535	19	1		1	PFAS	17	8170877	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	592630	8170877	73024333	141	15081											
CDRT1	374286	broad.mit.edu	37	chr17	15522822	15522822	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccttgattccaggtttTccatgatcctaagataacca	11	13	7	10	0	0	4	0	3	0	1	3	4	3	4	5	1	2	1	5	1	2	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:15522822T>C	ENST00000395906.3	-	1	4	c.5A>G	c.(4-6)gAa>gGa	p.E2G	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	2										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TTCCAGGTTTTCCATGATCCT	0.498													10	486					0	0	0	0	C	15522822	T	C	15522822	3	2	79	1	0	0	0	0	1	0	0	0	3203	1783	62	5	2301	5	CDRT1	17	15522822	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	7351945	15522822	65672388	142	15082											
SEBOX	645832	broad.mit.edu	37	chr17	26691847	26691847	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcaggaaggcaagtgacCcaggccaggtgctcatgggt	9	6	15	11	0	2	1	2	1	0	0	2	2	2	2	3	5	1	2	3	5	2	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:26691847C>T	ENST00000536498.1	-	9	1634	c.237G>A	c.(235-237)tgG>tgA	p.W79*	SEBOX_ENST00000431468.1_Nonsense_Mutation_p.W80*|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000438614.1_Nonsense_Mutation_p.W79*			Q9HB31	SEBOX_HUMAN	SEBOX homeobox	80					cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(1)|skin(1)	5	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GGCAAGTGACCCAGGCCAGGT	0.607													4	53					0	0	0	0	T	26691847	C	T	26691847	4	4	79	1	0	0	0	0	0	1	0	0	14064	624	22	4	418	4	SEBOX	17	26691847	Nonsense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	11169025	26691847	54503363	143	15083											
FOXN1	8456	broad.mit.edu	37	chr17	26862068	26862068	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccccaggactcgcctctGcctgcccacaccccacccag	7	4	6	24	1	1	0	0	0	1	0	2	1	1	1	9	1	2	0	9	1	0	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:26862068G>T	ENST00000226247.2	+	7	1508	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L	FOXN1_ENST00000579795.1_Silent_p.L493L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	493					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACTCGCCTCTGCCTGCCCACA	0.692													25	68					1.1804e-14	1.53256e-14	1	0	T	26862068	G	T	26862068	2	4	79	1	0	0	0	0	0	0	0	1	6066	1306	46	4		4	FOXN1	17	26862068	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	170221	26862068	54333142	144	15084											
SLFN13	146857	broad.mit.edu	37	chr17	33767957	33767957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcactatttgctccaaaGtaaagtttttaataatcttt	13	17	5	6	0	2	0	1	0	1	0	3	0	3	0	1	1	1	3	1	1	6	8			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:33767957G>T	ENST00000285013.6	-	6	2626	c.2351C>A	c.(2350-2352)aCt>aAt	p.T784N	SLFN13_ENST00000542635.1_Missense_Mutation_p.T784N|SLFN13_ENST00000360502.2_Missense_Mutation_p.T466N|SLFN13_ENST00000533791.1_Missense_Mutation_p.T784N|SLFN13_ENST00000534689.1_Missense_Mutation_p.T466N|SLFN13_ENST00000526861.1_Missense_Mutation_p.T784N	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	784						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTGCTCCAAAGTAAAGTTTTT	0.443													34	103					1.61788e-16	2.13596e-16	1	0	T	33767957	G	T	33767957	3	4	79	1	0	0	0	0	1	0	0	0	14824	1029	36	4	346	4	SLFN13	17	33767957	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	6905889	33767957	47427253	145	15085											
TAF15	8148	broad.mit.edu	37	chr17	34171147	34171147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaccccaaaagtggggattGggtttgccctaatccgtaag	11	9	12	9	1	0	1	0	0	0	1	1	2	1	2	4	3	1	2	4	3	4	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:34171147G>T	ENST00000588240.1	+	13	1188	c.1073G>T	c.(1072-1074)tGg>tTg	p.W358L	TAF15_ENST00000311979.3_Missense_Mutation_p.W355L|TAF15_ENST00000592237.1_Missense_Mutation_p.W267L	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	358	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGTGGGGATTGGGTTTGCCCT	0.527			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								17	212					1.45105e-14	1.87361e-14	1	0	T	34171147	G	T	34171147	3	4	79	1	0	0	0	0	1	0	0	0	15609	1357	47	4	1123	4	TAF15	17	34171147	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	403190	34171147	47024063	146	15086											
GRN	2896	broad.mit.edu	37	chr17	42428419	42428419	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaggccacctgctgctcCgatcacctgcactgctgccc	6	8	8	19	1	2	0	2	0	0	0	3	1	3	0	5	1	5	4	5	1	0	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:42428419C>T	ENST00000053867.3	+	8	785	c.723C>T	c.(721-723)tcC>tcT	p.S241S	GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_3'UTR	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	241					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCTGCTGCTCCGATCACCTGC	0.607											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	116					0	0	0	0	T	42428419	C	T	42428419	2	4	79	1	0	0	0	0	0	0	0	1	6854	639	23	1		1	GRN	17	42428419	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	8257272	42428419	38766791	147	15087											
HOXB1	3211	broad.mit.edu	37	chr17	46607812	46607812	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcagcataggccggtgcaAagctcgcggtctgctcgttc	7	9	13	12	4	2	0	1	0	1	0	5	1	2	0	1	3	4	5	1	3	2	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:46607812A>C	ENST00000239174.6	-	1	547	c.455T>G	c.(454-456)tTt>tGt	p.F152C	HOXB1_ENST00000577092.1_Missense_Mutation_p.F152C	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	152						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCGGTGCAAAGCTCGCGGT	0.622													9	85					0	0	0	0	C	46607812	A	C	46607812	3	2	79	1	0	0	0	0	1	0	0	0	7349	14	1	5	458	5	HOXB1	17	46607812	Missense_Mutation	SNP	A	TCGA-CN-5359-01A-01D-1434-08	4179393	46607812	34587398	148	15088											
HOXB6	3216	broad.mit.edu	37	chr17	46673816	46673816	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctcctcggcactgagctGagacgcgctgagcagtttgc	6	9	12	14	3	0	3	0	3	0	1	3	4	2	3	2	1	3	5	2	1	0	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:46673816G>A	ENST00000484302.2	-	3	1256	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB6_ENST00000225648.3_Nonsense_Mutation_p.Q212*|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000476204.1_RNA			P17509	HXB6_HUMAN	homeobox B6	212					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCACTGAGCTGAGACGCGCTG	0.602													7	391					0	0	0	0	A	46673816	G	A	46673816	4	1	79	1	0	0	0	0	0	1	0	0	7355	1299	45	2	44	2	HOXB6	17	46673816	Nonsense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	66004	46673816	34521394	149	15089											
CSHL1	1444	broad.mit.edu	37	chr17	61987866	61987866	+	Translation_Start_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagtcatgcaggaatgAatacttctgttcctttgtga	9	14	11	7	0	2	2	1	2	1	0	3	4	3	4	1	2	2	2	1	2	3	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:61987866A>C	ENST00000450719.3	-	0	175				CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Missense_Mutation_p.S74A|CSHL1_ENST00000392824.4_Missense_Mutation_p.I143M|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_De_novo_Start_OutOfFrame			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1							extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TGCAGGAATGAATACTTCTGT	0.507													15	248					0	0	0	0	C	61987866	A	C	61987866	1	2	79	1	0	0	0	0	0	0	0	0	3974	246	9	5		5	CSHL1	17	61987866	Translation_Start_Site	SNP	A	TCGA-CN-5359-01A-01D-1434-08	15314050	61987866	19207344	150	15090											
ERN1	2081	broad.mit.edu	37	chr17	62144284	62144284	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaccattggacacaaagtGggacatctctgtacagatca	14	9	8	10	0	3	1	2	0	1	1	4	3	3	3	1	2	1	1	1	2	2	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:62144284G>C	ENST00000433197.2	-	8	684	c.589C>G	c.(589-591)Cac>Gac	p.H197D		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	197					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GACACAAAGTGGGACATCTCT	0.502													3	39					0	0	0	0	C	62144284	G	C	62144284	3	2	79	1	0	0	0	0	1	0	0	0	5275	1348	47	4	2404	4	ERN1	17	62144284	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	156418	62144284	19050926	151	15091											
ZNF519	162655	broad.mit.edu	37	chr18	14105333	14105333	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattccttacacttgaaaggTttctctccagtatgcattct	9	16	5	11	0	2	1	0	1	2	0	5	1	4	1	2	1	2	3	2	1	3	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr18:14105333T>C	ENST00000590202.1	-	3	1358	c.1206A>G	c.(1204-1206)aaA>aaG	p.K402K	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						ACTTGAAAGGTTTCTCTCCAG	0.403													6	216					0	0	0	0	C	14105333	T	C	14105333	2	2	79	1	0	0	0	0	0	0	0	1	18059	1722	60	5		5	ZNF519	18	14105333	Silent	SNP	T	TCGA-CN-5359-01A-01D-1434-08		14105333	63971915	152	15092											
DSG2	1829	broad.mit.edu	37	chr18	29110982	29110982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaatgaagaatcttgaCttcagtgttattgtcgctaa	14	13	9	5	1	2	4	1	2	1	2	3	5	2	4	0	0	0	2	0	0	6	5			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr18:29110982C>T	ENST00000261590.8	+	9	1256	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	349	Cadherin 3.				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)			AGAATCTTGACTTCAGTGTTA	0.343													40	110					0	0	0	0	T	29110982	C	T	29110982	2	4	79	1	0	0	0	0	0	0	0	1	4813	564	20	4		4	DSG2	18	29110982	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	15005649	29110982	48966266	153	15093											
ALPK2	115701	broad.mit.edu	37	chr18	56278955	56278955	+	Frame_Shift_Del	DEL	C	C	-																															cgaagcacagcgtctgacttCtcaggaaccttctgggaaag																										TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr18:56278955delC	ENST00000361673.3	-	2	288	c.75delG	c.(73-75)gafs	p.E25fs		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	25	Ig-like 1.						ATP binding|protein serine/threonine kinase activity			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						CGTCTGACTTCTCAGGAACCT	0.483													19	207	---	---	---	---					-	56278955	C	-	56278955	7	5	79	1	0	1	0	1	0	0	0	0	545	912	32	0	6485	0	ALPK2	18	56278955	Frame_Shift_Del	DEL	C	TCGA-CN-5359-01A-01D-1434-08	27167973	56278955	21798293	154	15094											
AES	166	broad.mit.edu	37	chr19	3055690	3055690	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaggtagggcaggacctggGcacaaatcccgttcagcctt	10	7	13	11	1	1	1	1	0	0	1	2	2	2	2	3	4	1	4	3	4	2	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:3055690G>C	ENST00000221561.8	-	5	649	c.470C>G	c.(469-471)gCc>gGc	p.A157G	AES_ENST00000327141.4_Missense_Mutation_p.A90G|AES_ENST00000592330.1_Intron|AES_ENST00000586839.1_Missense_Mutation_p.A34G	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	90	Gly/Pro-rich (GP domain).				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		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)		CAGGACCTGGGCACAAATCCC	0.637													9	114					0	0	0	0	C	3055690	G	C	3055690	3	2	79	1	0	0	0	0	1	0	0	0	352	1203	42	4	336	4	AES	19	3055690	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08		3055690	56073293	155	15095											
TJP3	27134	broad.mit.edu	37	chr19	3735583	3735583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagagtccccggcttcggCgggaaagttcagtagattcc	8	8	15	10	3	1	2	1	0	0	2	4	4	3	3	3	4	0	3	3	4	2	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:3735583C>T	ENST00000541714.2	+	9	1468	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	TJP3_ENST00000262968.9_Missense_Mutation_p.R369W|TJP3_ENST00000382008.3_Missense_Mutation_p.R350W|TJP3_ENST00000587686.1_Missense_Mutation_p.R355W|TJP3_ENST00000589378.1_Missense_Mutation_p.R345W|TJP3_ENST00000539908.2_Missense_Mutation_p.R300W	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	350						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCTTCGGCGGGAAAGTTC	0.552													21	206					0	0	0	0	T	3735583	C	T	3735583	3	4	79	1	0	0	0	0	1	0	0	0	16025	759	27	1	1135	1	TJP3	19	3735583	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	679893	3735583	55393400	156	15096											
TMIGD2	126259	broad.mit.edu	37	chr19	4292705	4292705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggcctggggctggggCagggtctcgggctggggcag	2	5	24	10	2	1	0	0	0	1	0	2	0	1	0	2	10	0	4	2	10	0	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:4292705C>A	ENST00000301272.2	-	5	785	c.740G>T	c.(739-741)tGc>tTc	p.C247F	TMIGD2_ENST00000600349.1_Missense_Mutation_p.C75F|TMIGD2_ENST00000595645.1_Missense_Mutation_p.C243F|TMIGD2_ENST00000600114.1_Missense_Mutation_p.C127F	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	247	Pro-rich.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		ggggctggggcagggtctcgg	0.672													7	88					0.00307968	0.00336616	1	0	A	4292705	C	A	4292705	3	1	79	1	0	0	0	0	1	0	0	0	16325	710	25	4	112	4	TMIGD2	19	4292705	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	557122	4292705	54836278	157	15097											
LRRC8E	80131	broad.mit.edu	37	chr19	7964965	7964965	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggaggggcttttccccCaggagctagctcgggcagcc	6	7	14	14	1	0	0	0	0	0	0	2	2	1	2	4	5	3	4	4	5	1	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:7964965C>T	ENST00000539278.1	-	1	3462	c.302G>A	c.(301-303)tGg>tAg	p.W101*	LRRC8E_ENST00000306708.6_Nonsense_Mutation_p.Q520*																							GCTTTTCCCCCAGGAGCTAGC	0.657													5	32					0	0	0	0	T	7964965	C	T	7964965	4	4	79	1	0	0	0	0	0	1	0	0	9089	595	21	4	1564	4	LRRC8E	19	7964965	Nonsense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	3672260	7964965	51164018	158	15098											
ANGPTL4	51129	broad.mit.edu	37	chr19	8436298	8436298	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgcacccgtggccggcCagctgggcgccaccaccgtc	5	5	12	19	4	1	0	1	0	0	0	2	0	1	0	6	3	2	2	6	3	0	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:8436298C>A	ENST00000301455.2	+	6	1102	c.931C>A	c.(931-933)Cag>Aag	p.Q311K	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.Q144K|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.Q273K	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	311	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CGTGGCCGGCCAGCTGGGCGC	0.672													6	55					8.12818e-05	9.27244e-05	1	0	A	8436298	C	A	8436298	3	1	79	1	0	0	0	0	1	0	0	0	616	595	21	4	953	4	ANGPTL4	19	8436298	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	471333	8436298	50692685	159	15099											
KEAP1	9817	broad.mit.edu	37	chr19	10602764	10602764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcgtcaacgagtggcagcGcacggcccgcagcagcgcct	7	3	15	16	7	1	0	1	0	0	0	1	1	1	0	2	3	4	4	2	3	1	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:10602764G>A	ENST00000171111.5	-	3	1361	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.R272C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	272	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GAGTGGCAGCGCACGGCCCGC	0.617													10	60					0	0	0	0	A	10602764	G	A	10602764	3	1	79	1	0	0	0	0	1	0	0	0	8193	1087	38	1	1076	1	KEAP1	19	10602764	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	2166466	10602764	48526219	160	15100											
QTRT1	81890	broad.mit.edu	37	chr19	10822906	10822906	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgagagcaagtcgcagtTctggcggatggtggcgctga	7	8	19	7	3	1	2	0	2	1	1	2	4	1	3	0	5	1	4	0	5	1	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:10822906T>G	ENST00000250237.5	+	6	726	c.716T>G	c.(715-717)tTc>tGc	p.F239C		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	239					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			AAGTCGCAGTTCTGGCGGATG	0.622													10	107					0	0	0	0	G	10822906	T	G	10822906	3	3	79	1	0	0	0	0	1	0	0	0	12967	1783	62	5	738	5	QTRT1	19	10822906	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	220142	10822906	48306077	161	15101											
LDLR	3949	broad.mit.edu	37	chr19	11240185	11240185	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacagagcgtgcctctccctAcagtgctcctcgtcttcctt	5	12	8	16	2	2	1	0	0	2	1	6	2	4	1	4	0	4	1	4	0	1	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:11240185A>T	ENST00000557933.1	+	17	2535	c.2448A>T	c.(2446-2448)ctA>ctT	p.L816L	LDLR_ENST00000545707.1_Intron|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000535915.1_Intron|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000558518.1_Intron|LDLR_ENST00000558013.1_Intron			P01130	LDLR_HUMAN	low density lipoprotein receptor	66	Required for MYLIP-triggered down- regulation of LDLR.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GCCTCTCCCTACAGTGCTCCT	0.547													12	94					0	0	0	0	T	11240185	A	T	11240185	2	4	79	1	0	0	0	0	0	0	0	1	8757	406	14	5		5	LDLR	19	11240185	Silent	SNP	A	TCGA-CN-5359-01A-01D-1434-08	417279	11240185	47888798	162	15102											
DNAJB1	3337	broad.mit.edu	37	chr19	14627517	14627517	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttagccgcttgtgggagaTtttcatcttcttggtacagc	6	16	11	8	1	3	1	1	0	2	1	3	2	3	1	1	2	3	3	1	2	2	8			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:14627517T>C	ENST00000254322.2	-	2	623	c.553A>G	c.(553-555)Atc>Gtc	p.I185V	DNAJB1_ENST00000396969.4_Missense_Mutation_p.I85V	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	185					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TTGTGGGAGATTTTCATCTTC	0.502													30	341					0	0	0	0	C	14627517	T	C	14627517	3	2	79	1	0	0	0	0	1	0	0	0	4651	1493	52	5	477	5	DNAJB1	19	14627517	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	3387332	14627517	44501466	163	15103											
CYP4F12	66002	broad.mit.edu	37	chr19	15807026	15807026	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaacccaactgtgtggccGgatcctgaggtgctgccttc	7	9	11	14	1	0	1	0	1	0	0	2	2	1	2	4	3	4	1	4	3	2	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:15807026G>A	ENST00000550308.1	+	11	1685	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P	CYP4F12_ENST00000324632.9_Silent_p.P435P	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CTGTGTGGCCGGATCCTGAGG	0.557													4	165					0	0	0	0	A	15807026	G	A	15807026	2	1	79	1	0	0	0	0	0	0	0	1	4219	1103	39	1		1	CYP4F12	19	15807026	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	1179509	15807026	43321957	164	15104											
ZNF737	100129842	broad.mit.edu	37	chr19	20728598	20728598	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttgctttgagtagttgtCaaatattggttaagtccatt	10	19	8	4	0	1	1	1	1	0	0	2	1	2	1	1	1	1	4	1	1	4	9			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:20728598C>G	ENST00000427401.4	-	4	505	c.411G>C	c.(409-411)ttG>ttC	p.L137F		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	137					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GAGTAGTTGTCAAATATTGGT	0.299													8	47					0	0	0	0	G	20728598	C	G	20728598	3	3	79	1	0	0	0	0	1	0	0	0	18220	825	29	2	1203	2	ZNF737	19	20728598	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	4921572	20728598	38400385	165	15105											
CYP2S1	29785	broad.mit.edu	37	chr19	41712380	41712380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaccttcactccaccaCgcagaccagatgaaggaagg	13	5	9	14	1	1	4	1	2	0	2	2	5	2	5	4	2	0	1	4	2	2	1			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:41712380C>G	ENST00000310054.4	+	9	1718	c.1502C>G	c.(1501-1503)aCg>aGg	p.T501R	CYP2S1_ENST00000542619.1_Missense_Mutation_p.T226R	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	501					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CACTCCACCACGCAGACCAGA	0.602													17	207					0	0	0	0	G	41712380	C	G	41712380	3	3	79	1	0	0	0	0	1	0	0	0	4206	536	19	3	1536	3	CYP2S1	19	41712380	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	20983782	41712380	17416603	166	15106											
ZNF229	7772	broad.mit.edu	37	chr19	44933099	44933099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccagtgtggaccctCtgatggataaggaggtcgga	8	11	13	9	1	2	1	0	1	2	0	5	5	3	5	2	5	0	0	2	5	1	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:44933099C>A	ENST00000291187.4	-	6	2161	c.1839G>T	c.(1837-1839)caG>caT	p.Q613H	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.Q619H|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGACCCTCTGATGGATAA	0.547													11	156					3.86212e-05	4.44901e-05	1	0	A	44933099	C	A	44933099	3	1	79	1	0	0	0	0	1	0	0	0	17877	912	32	2	624	2	ZNF229	19	44933099	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	3220719	44933099	14195884	167	15107											
LILRA6	79168	broad.mit.edu	37	chr19	54744217	54744217	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggttggagctgtatgagccGtagcacctgtaggtccccgc	6	9	15	11	2	0	1	0	1	0	0	1	2	1	2	4	3	3	6	4	3	3	4	rs78401423		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:54744217G>A	ENST00000419410.2	-	6	1192	c.1191C>T	c.(1189-1191)taC>taT	p.Y397Y	LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Silent_p.Y397Y|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Silent_p.Y397Y					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTATGAGCCGTAGCACCTGT	0.597													4	226					0	0	0	0	A	54744217	G	A	54744217	2	1	79	1	0	0	0	0	0	0	0	1	8843	1140	40	1		1	LILRA6	19	54744217	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	9811118	54744217	4384766	168	15108											
TTYH1	57348	broad.mit.edu	37	chr19	54946764	54946764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcctgtgcgaagacgccctgGaaggcctgctcttcctgcta	6	9	12	14	2	1	1	0	0	1	1	2	3	2	2	4	2	3	2	4	2	3	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:54946764G>A	ENST00000301194.4	+	11	1290	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000376530.3_Missense_Mutation_p.E390K|TTYH1_ENST00000376531.3_Missense_Mutation_p.E390K|TTYH1_ENST00000391739.3_Missense_Mutation_p.420_420insE			Q9H313	TTYH1_HUMAN	tweety family member 1	390					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		AGACGCCCTGGAAGGCCTGCT	0.687													8	87					0	0	0	0	A	54946764	G	A	54946764	3	1	79	1	0	0	0	0	1	0	0	0	16835	1175	41	2	1210	2	TTYH1	19	54946764	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	202547	54946764	4182219	169	15109											
LILRA1	11024	broad.mit.edu	37	chr19	55105660	55105660	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgtctctgtcctgccAgcaccgagggctcatccatc	5	11	10	15	1	2	0	1	0	1	0	6	1	4	0	4	1	2	2	4	1	0	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:55105660A>T	ENST00000453777.1	+	2	122		c.e2-1		LILRA1_ENST00000251372.3_Splice_Site|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1						cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGTCCTGCCAGCACCGAGGG	0.582													11	94					0	0	0	0	T	55105660	A	T	55105660	5	4	79	1	0	0	0	0	0	0	1	0	8838	202	7	5		5	LILRA1	19	55105660	Splice_Site	SNP	A	TCGA-CN-5359-01A-01D-1434-08	158896	55105660	4023323	170	15110											
BRSK1	84446	broad.mit.edu	37	chr19	55815119	55815119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtccatggaagtcctgaGcatcaccgatgccgggggtg	9	7	15	10	2	1	1	1	1	0	0	3	4	3	2	4	3	2	1	4	3	2	0			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:55815119G>A	ENST00000309383.1	+	12	1488	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N	BRSK1_ENST00000590333.1_Missense_Mutation_p.S420N|BRSK1_ENST00000326848.7_Missense_Mutation_p.S99N	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	404					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GAAGTCCTGAGCATCACCGAT	0.662													11	158					0	0	0	0	A	55815119	G	A	55815119	3	1	79	1	0	0	0	0	1	0	0	0	1531	971	34	4	1257	4	BRSK1	19	55815119	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	709459	55815119	3313864	171	15111											
PEG3	5178	broad.mit.edu	37	chr19	57325826	57325835	+	Frame_Shift_Del	DEL	AGCTCCTTTG	AGCTCCTTTG	-																															ttgcattcatagaatggtatAgctcctttgaggggctcagt																										TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:57325826_57325835delAGCTCCTTTG	ENST00000326441.9	-	10	4338_4347	c.3975_3984delCAAAGGAGCT	c.(3973-3984)ctfs	p.LKGA1325fs	PEG3_ENST00000423103.2_Frame_Shift_Del_p.LKGA1325fs|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.LKGA1199fs|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.LKGA1201fs	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1325					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGAATGGTATAGCTCCTTTGAGGGGCTCAG	0.429													8	142	---	---	---	---					-	57325835	AGCTCCTTTG	-	57325826	7	5	79	1	0	1	0	1	0	0	0	0	11791	407	15	0	786	0	PEG3	19	57325826	Frame_Shift_Del	DEL	AGCTCCTTTG	TCGA-CN-5359-01A-01D-1434-08	1510707	57325826	1803157	172	15112											
USP29	57663	broad.mit.edu	37	chr19	57641043	57641043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttattatgaccttgaccCagctgcttgctttgaaagat	9	15	7	10	0	1	4	0	3	1	1	1	4	1	4	2	0	3	3	2	0	3	5			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:57641043C>A	ENST00000254181.4	+	4	1454	c.1000C>A	c.(1000-1002)Cag>Aag	p.Q334K	USP29_ENST00000598197.1_Missense_Mutation_p.Q334K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	334					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GACCTTGACCCAGCTGCTTGC	0.378													19	198					7.45023e-12	9.4638e-12	1	0	A	57641043	C	A	57641043	3	1	79	1	0	0	0	0	1	0	0	0	17155	595	21	4	1002	4	USP29	19	57641043	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	315217	57641043	1487940	173	15113											
ZNF772	400720	broad.mit.edu	37	chr19	57985605	57985605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcacacacatgtatggtttCtgccctgggtgtgtttcctg	6	14	11	10	0	1	0	0	0	1	0	2	0	2	0	2	2	2	4	2	2	1	3			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:57985605C>T	ENST00000343280.4	-	5	767	c.507G>A	c.(505-507)caG>caA	p.Q169Q	ZNF772_ENST00000427512.2_Silent_p.Q57Q|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Silent_p.Q128Q|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000601768.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		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;0.026)|Lung(386;0.174)		TGTATGGTTTCTGCCCTGGGT	0.507													12	176					0	0	0	0	T	57985605	C	T	57985605	2	4	79	1	0	0	0	0	0	0	0	1	18238	912	32	2		2	ZNF772	19	57985605	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	344562	57985605	1143378	174	15114											
ZIK1	284307	broad.mit.edu	37	chr19	58101682	58101682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcattgaagccctttcGcaaatgggaggttggaaagg	11	11	13	6	1	1	1	1	1	0	0	2	3	1	3	1	4	1	2	1	4	4	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:58101682G>A	ENST00000597850.1	+	4	718	c.503G>A	c.(502-504)cGc>cAc	p.R168H	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.R113H|ZIK1_ENST00000536878.2_Missense_Mutation_p.R155H	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAGCCCTTTCGCAAATGGGAG	0.502													5	81					0	0	0	0	A	58101682	G	A	58101682	3	1	79	1	0	0	0	0	1	0	0	0	17778	1087	38	1	517	1	ZIK1	19	58101682	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	116077	58101682	1027301	175	15115											
BTBD3	22903	broad.mit.edu	37	chr20	11903518	11903518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagttagctctcaagtCtgagggattctgcgatattg	8	13	13	7	1	3	2	1	2	3	0	4	4	3	3	0	2	2	3	0	2	3	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:11903518C>A	ENST00000405977.1	+	5	1398	c.773C>A	c.(772-774)tCt>tAt	p.S258Y	BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000254977.3_Missense_Mutation_p.S197Y|BTBD3_ENST00000378226.2_Missense_Mutation_p.S258Y|BTBD3_ENST00000399006.2_Missense_Mutation_p.S197Y			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	258										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GCTCTCAAGTCTGAGGGATTC	0.517													13	117					1.49906e-05	1.74395e-05	1	0	A	11903518	C	A	11903518	3	1	79	1	0	0	0	0	1	0	0	0	1553	913	32	2	787	2	BTBD3	20	11903518	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08		11903518	51122002	176	15116											
KIF16B	55614	broad.mit.edu	37	chr20	16359952	16359952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttatattgcagcctgtactCcactggctttattttctcga	7	18	6	10	1	1	0	0	0	1	0	3	1	2	0	2	1	3	3	2	1	4	9			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:16359952C>T	ENST00000354981.2	-	19	2852	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K	KIF16B_ENST00000378003.2_Missense_Mutation_p.E125K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E899K|KIF16B_ENST00000408042.1_Missense_Mutation_p.E899K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	899	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGCCTGTACTCCACTGGCTTT	0.413													16	217					0	0	0	0	T	16359952	C	T	16359952	3	4	79	1	0	0	0	0	1	0	0	0	8329	864	30	2	1290	2	KIF16B	20	16359952	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	4456434	16359952	46665568	177	15117											
ENTPD6	955	broad.mit.edu	37	chr20	25205950	25205950	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccaggagcaaagtgctGaaggtaagggtgccctcagg	10	8	14	9	0	1	1	1	1	0	0	2	2	2	2	2	4	3	3	2	4	3	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:25205950G>T	ENST00000433259.2	+	13	1420	c.1294G>T	c.(1294-1296)Gaa>Taa	p.E432*	ENTPD6_ENST00000354989.5_Silent_p.L434L|ENTPD6_ENST00000376652.4_Silent_p.L451L|ENTPD6_ENST00000360031.2_Silent_p.L450L|ENTPD6_ENST00000485936.1_3'UTR			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	86						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GCAAAGTGCTGAAGGTAAGGG	0.612													9	41					0.000673444	0.000746506	1	0	T	25205950	G	T	25205950	4	4	79	1	0	0	0	0	0	1	0	0	5181	1277	45	2	1410	2	ENTPD6	20	25205950	Nonsense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	8845998	25205950	37819570	178	15118											
ZNF337	26152	broad.mit.edu	37	chr20	25666234	25666234	+	Frame_Shift_Del	DEL	T	T	-																															cctggccggcgtcttctctcTtctccccagggcacttcccc																										TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:25666234delT	ENST00000376436.1	-	3	758	c.219delA	c.(217-219)gafs	p.E74fs	ZNF337_ENST00000252979.5_Frame_Shift_Del_p.E74fs|ZNF337_ENST00000538750.1_Intron|ZNF337_ENST00000481610.1_5'UTR					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCTTCTCTCTTCTCCCCAGG	0.572													90	507	---	---	---	---					-	25666234	T	-	25666234	7	5	79	1	0	1	0	1	0	0	0	0	17948	1606	56	0	2044	0	ZNF337	20	25666234	Frame_Shift_Del	DEL	T	TCGA-CN-5359-01A-01D-1434-08	460284	25666234	37359286	179	15119											
PTPRT	11122	broad.mit.edu	37	chr20	40739003	40739003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactatgggcccagcttccGgggggttgaggaacttgacc	7	8	14	12	1	0	2	0	2	0	0	1	3	1	3	4	5	2	2	4	5	2	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:40739003G>A	ENST00000373198.3	-	24	3525	c.3290C>T	c.(3289-3291)cCg>cTg	p.P1097L	PTPRT_ENST00000373201.1_Missense_Mutation_p.P1065L|PTPRT_ENST00000356100.2_Missense_Mutation_p.P1084L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P1078L|PTPRT_ENST00000373184.1_Missense_Mutation_p.P1085L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P1074L|PTPRT_ENST00000373187.1_Missense_Mutation_p.P1075L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1075	Tyrosine-protein phosphatase 1.				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)				CCCAGCTTCCGGGGGGTTGAG	0.627													22	72					0	0	0	0	A	40739003	G	A	40739003	3	1	79	1	0	0	0	0	1	0	0	0	12894	1116	39	1	1137	1	PTPRT	20	40739003	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	15072769	40739003	22286517	180	15120											
EYA2	2139	broad.mit.edu	37	chr20	45725801	45725801	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacatttgcatccagataCgggaaggtaagaatccattt	13	10	11	7	1	0	2	0	0	0	2	2	4	2	4	2	3	2	2	2	3	4	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:45725801C>T	ENST00000327619.5	+	9	1256	c.882C>T	c.(880-882)taC>taT	p.Y294Y	EYA2_ENST00000317304.6_Silent_p.Y294Y|EYA2_ENST00000357410.3_Silent_p.Y294Y	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	294					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CATCCAGATACGGGAAGGTAA	0.423													29	275					0	0	0	0	T	45725801	C	T	45725801	2	4	79	1	0	0	0	0	0	0	0	1	5367	547	19	1		1	EYA2	20	45725801	Silent	SNP	C	TCGA-CN-5359-01A-01D-1434-08	4986798	45725801	17299719	181	15121											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296445	28296445	+	Missense_Mutation	SNP	C	C	T																															gacatccttttgctaacttcCggtttccatcctggcactgc																								rs75336666		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr21:28296445C>T	ENST00000284987.5	-	8	2841	c.2720G>A	c.(2719-2721)cGg>cAg	p.R907Q	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	907	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGCTAACTTCCGGTTTCCATC	0.527													13	103					0	0	0	0	T	28296445	C	T	28296445	3	4	79	1	0	0	0	0	1	0	0	0	269	652	23	1	76	1	ADAMTS5	21	28296445	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08		28296445	19833450	182	15122	129	2									
ADAMTS5	11096	broad.mit.edu	37	chr21	28296446	28296446	+	Silent	SNP	G	G	T																															acatccttttgctaacttccGgtttccatcctggcactgca																										TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr21:28296446G>T	ENST00000284987.5	-	8	2840	c.2719C>A	c.(2719-2721)Cgg>Agg	p.R907R	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	907	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R907R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTAACTTCCGGTTTCCATCC	0.527													13	101					9.31168e-06	1.09412e-05	1	0	T	28296446	G	T	28296446	2	4	79	1	0	0	0	0	0	0	0	1	269	1115	39	3		3	ADAMTS5	21	28296446	Silent	SNP	G	TCGA-CN-5359-01A-01D-1434-08	1	28296446	19833449	183	15123	129	2									
RWDD2B	10069	broad.mit.edu	37	chr21	30380094	30380094	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaaccttgaccagaatTcttcacaggcactttgtggg	12	10	9	10	0	2	2	1	1	1	1	2	2	2	2	2	2	2	2	2	2	3	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr21:30380094T>A	ENST00000493196.1	-	4	813	c.713A>T	c.(712-714)gAa>gTa	p.E238V	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	238										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TGACCAGAATTCTTCACAGGC	0.413													37	96					0	0	0	0	A	30380094	T	A	30380094	3	1	79	1	0	0	0	0	1	0	0	0	13841	1783	62	5	254	5	RWDD2B	21	30380094	Missense_Mutation	SNP	T	TCGA-CN-5359-01A-01D-1434-08	2083648	30380094	17749801	184	15124											
SEC14L3	266629	broad.mit.edu	37	chr22	30858091	30858091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accttggttaaacatttgggGttcccatctgggtcagtcag	8	13	11	9	0	3	0	2	0	1	0	4	0	4	0	2	4	1	2	2	4	2	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr22:30858091G>C	ENST00000403066.1	-	10	859	c.576C>G	c.(574-576)aaC>aaG	p.N192K	SEC14L3_ENST00000415957.2_Missense_Mutation_p.N192K|SEC14L3_ENST00000402286.1_Missense_Mutation_p.N174K|SEC14L3_ENST00000401751.1_Missense_Mutation_p.N192K|SEC14L3_ENST00000215812.4_Missense_Mutation_p.N251K|SEC14L3_ENST00000540910.1_Missense_Mutation_p.N174K|SEC14L3_ENST00000539629.1_Missense_Mutation_p.N192K			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	251	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AACATTTGGGGTTCCCATCTG	0.498													8	37					0	0	0	0	C	30858091	G	C	30858091	3	2	79	1	0	0	0	0	1	0	0	0	14070	1252	44	4	465	4	SEC14L3	22	30858091	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08		30858091	20446475	185	15125											
P2RY10	27334	broad.mit.edu	37	chrX	78216634	78216634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacagttgctgagcttgcagGatttgtgatcccagtgatca	9	13	11	8	0	1	3	1	3	0	0	2	4	2	4	1	1	4	4	1	1	1	4			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chrX:78216634G>T	ENST00000171757.2	+	4	897	c.617G>T	c.(616-618)gGa>gTa	p.G206V	P2RY10_ENST00000544091.1_Missense_Mutation_p.G206V	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	206						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GAGCTTGCAGGATTTGTGATC	0.458													10	56					3.07112e-06	3.6267e-06	1	0	T	78216634	G	T	78216634	3	4	79	1	0	0	0	0	1	0	0	0	11418	1174	41	2	619	2	P2RY10	23	78216634	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08		78216634	77053926	186	15126											
NKRF	55922	broad.mit.edu	37	chrX	118723933	118723933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgcaattacttcactCtctagaatcactttgcattt	9	17	4	11	0	4	1	2	0	2	1	5	1	4	1	0	0	3	3	0	0	4	6			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chrX:118723933C>A	ENST00000371527.1	-	2	2107	c.1455G>T	c.(1453-1455)gaG>gaT	p.E485D	NKRF_ENST00000542113.1_Missense_Mutation_p.E500D|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.E485D	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	485					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	p.E485D(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TTACTTCACTCTCTAGAATCA	0.458													5	186					2.0095e-06	2.38501e-06	1	0	A	118723933	C	A	118723933	3	1	79	1	0	0	0	0	1	0	0	0	10517	912	32	2	621	2	NKRF	23	118723933	Missense_Mutation	SNP	C	TCGA-CN-5359-01A-01D-1434-08	40507299	118723933	36546627	187	15127											
SLC10A3	8273	broad.mit.edu	37	chrX	153716765	153716765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggcgtgtcttcagcaGgtgagaccttgatgcagaag	9	9	15	8	1	2	3	1	2	1	2	2	4	2	3	1	3	2	3	1	3	1	2			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chrX:153716765G>A	ENST00000263512.4	-	2	1013	c.515C>T	c.(514-516)cCt>cTt	p.P172L	SLC10A3_ENST00000369649.4_Missense_Mutation_p.P143L|SLC10A3_ENST00000393586.1_Missense_Mutation_p.P227L|SLC10A3_ENST00000393587.4_Missense_Mutation_p.P172L	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	172					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCTTCAGCAGGTGAGACCTT	0.602													53	67					0	0	0	0	A	153716765	G	A	153716765	3	1	79	1	0	0	0	0	1	0	0	0	14463	1000	35	4	922	4	SLC10A3	23	153716765	Missense_Mutation	SNP	G	TCGA-CN-5359-01A-01D-1434-08	34992832	153716765	1553795	188	15128											
GLTPD1	80772	broad.mit.edu	37	chr1	1263084	1263084	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccctccccttcatccagCgtgtctacaacgtctcccag	7	9	7	18	2	3	0	1	0	2	0	6	0	5	0	5	1	3	0	5	1	2	2	rs145750452		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:1263084C>A	ENST00000343938.4	+	3	997	c.586C>A	c.(586-588)Cgt>Agt	p.R196S	GLTPD1_ENST00000464957.1_3'UTR	NM_001029885.1	NP_001025056.1	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	196						cytoplasm	glycolipid binding|glycolipid transporter activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTTCATCCAGCGTGTCTACAA	0.672													21	64					1.64113e-05	1.78678e-05	1	0	A	1263084	C	A	1263084	3	1	80	1	0	0	0	0	1	0	0	0	6523	768	27	3	592	3	GLTPD1	1	1263084	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08		1263084	247987537	1	15129											
SPSB1	80176	broad.mit.edu	37	chr1	9416393	9416393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacttggggcgcaaccGgctctaccacgatggcaaga	9	6	14	12	3	1	1	0	0	1	1	1	3	1	2	2	5	2	3	2	5	3	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:9416393G>T	ENST00000328089.6	+	2	784	c.443G>T	c.(442-444)cGg>cTg	p.R148L	SPSB1_ENST00000357898.3_Missense_Mutation_p.R148L|SPSB1_ENST00000377399.2_Missense_Mutation_p.R148L	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	148	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGGCGCAACCGGCTCTACCAC	0.602													25	47					1.85244e-09	2.25643e-09	1	0	T	9416393	G	T	9416393	3	4	80	1	0	0	0	0	1	0	0	0	15202	1116	39	3	445	3	SPSB1	1	9416393	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	8153309	9416393	239834228	2	15130											
NPPB	4879	broad.mit.edu	37	chr1	11918861	11918861	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaagagcaggagcaggagCgcccgggaaggtgctgtctg	11	4	18	8	2	1	2	0	0	1	2	1	5	1	5	1	4	4	3	1	4	3	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:11918861C>A	ENST00000376468.3	-	1	127	c.30G>T	c.(28-30)gcG>gcT	p.A10A		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	10					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	GGAGCAGGAGCGCCCGGGAAG	0.652													37	60					2.40579e-17	3.3938e-17	1	0	A	11918861	C	A	11918861	2	1	80	1	0	0	0	0	0	0	0	1	10663	755	27	3		3	NPPB	1	11918861	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2502468	11918861	237331760	3	15131											
PRAMEF11	440560	broad.mit.edu	37	chr1	12884844	12884844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtcataaaatgacctgtCgccatggtcagggcagttgt	10	10	12	9	1	2	1	2	1	0	0	3	1	2	1	2	3	0	2	2	3	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:12884844C>T	ENST00000535591.1	-	4	1462	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	423										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AATGACCTGTCGCCATGGTCA	0.468													6	211					0	0	0	0	T	12884844	C	T	12884844	3	4	80	1	0	0	0	0	1	0	0	0	12503	884	31	1	47	1	PRAMEF11	1	12884844	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	965983	12884844	236365777	4	15132											
IGSF21	84966	broad.mit.edu	37	chr1	18692115	18692115	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggaccctcaacccacagatCgacaacgaggccctcttcag	11	6	8	16	2	3	1	2	0	1	1	4	4	3	2	3	2	2	0	3	2	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:18692115C>G	ENST00000251296.1	+	6	1322	c.939C>G	c.(937-939)atC>atG	p.I313M		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	313						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ACCCACAGATCGACAACGAGG	0.642													23	57					0	0	0	0	G	18692115	C	G	18692115	3	3	80	1	0	0	0	0	1	0	0	0	7652	874	31	3	961	3	IGSF21	1	18692115	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	5807271	18692115	230558506	5	15133											
SMPDL3B	27293	broad.mit.edu	37	chr1	28285042	28285042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgctcaggggacgccgcGctgggagctcgagtaccagc	8	5	16	12	4	1	0	1	0	0	0	2	4	1	2	2	3	4	4	2	3	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:28285042G>T	ENST00000373894.3	+	8	1252	c.1061G>T	c.(1060-1062)cGc>cTc	p.R354L	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.R306L	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	354					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GGGACGCCGCGCTGGGAGCTC	0.632													27	43					2.08973e-25	3.28523e-25	1	0	T	28285042	G	T	28285042	3	4	80	1	0	0	0	0	1	0	0	0	14897	1087	38	3	1208	3	SMPDL3B	1	28285042	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	9592927	28285042	220965579	6	15134											
INPP5B	3633	broad.mit.edu	37	chr1	38397463	38397463	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacgaacccgcccccgtgTgcccgctccatcaatcgaaa	10	5	8	18	5	1	1	1	0	0	1	3	3	2	1	5	0	2	1	5	0	3	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:38397463T>G	ENST00000373023.2	-	7	747	c.654A>C	c.(652-654)gcA>gcC	p.A218A	INPP5B_ENST00000373024.3_Intron|INPP5B_ENST00000373026.1_Silent_p.A218A|INPP5B_ENST00000373021.1_Silent_p.A218A	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	218					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGCCCCCGTGTGCCCGCTCCA	0.692													19	23					0	0	0	0	G	38397463	T	G	38397463	2	3	80	1	0	0	0	0	0	0	0	1	7808	1711	59	5		5	INPP5B	1	38397463	Silent	SNP	T	TCGA-CN-5360-01A-01D-1434-08	10112421	38397463	210853158	7	15135											
CD53	963	broad.mit.edu	37	chr1	111435056	111435056	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataacctcccctccctcacGctgggcaatgtgtttgtcat	7	12	7	15	1	2	0	2	0	0	0	4	0	4	0	4	1	1	3	4	1	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:111435056G>T	ENST00000271324.5	+	3	265	c.153G>T	c.(151-153)acG>acT	p.T51T	CD53_ENST00000429072.2_Silent_p.T51T	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	51					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CCTCCCTCACGCTGGGCAATG	0.507													39	105					2.75727e-19	4.0389e-19	1	0	T	111435056	G	T	111435056	2	4	80	1	0	0	0	0	0	0	0	1	3052	1074	38	3		3	CD53	1	111435056	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	73037593	111435056	137815565	8	15136											
SEC22B	9554	broad.mit.edu	37	chr1	145115999	145115999	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccaagtggaacttctgcCtctaaagaccttgcaagaaa	15	9	7	10	0	2	2	0	0	2	2	3	3	3	3	3	1	3	1	3	1	7	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:145115999C>T	ENST00000453618.1	+	0	1085							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										GAACTTCTGCCTCTAAAGACC	0.423													5	65					0	0	0	0	T	145115999	C	T	145115999	1	4	80	0	1	0	0	0	0	0	0	0	14076	696	24	4		4	SEC22B	1	145115999	RNA	SNP	C	TCGA-CN-5360-01A-01D-1434-08	33680943	145115999	104134622	9	15137											
HIST2H2BF	440689	broad.mit.edu	37	chr1	149783631	149783631	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagcgcttgttgtagTgcgccaggcgggacgcctct	4	10	17	10	4	1	0	0	0	1	0	1	2	1	2	2	4	2	3	2	4	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:149783631T>A	ENST00000427880.2	-	1	294	c.248A>T	c.(247-249)cAc>cTc	p.H83L	HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.H83L|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.H83L			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	83					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CTTGTTGTAGTGCGCCAGGCG	0.667													37	89					0	0	0	0	A	149783631	T	A	149783631	3	1	80	1	0	0	0	0	1	0	0	0	7230	1696	59	5	553	5	HIST2H2BF	1	149783631	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	4667632	149783631	99466990	10	15138											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131289	150131289	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgacgcccacagagaaaggCcgctgcgcctccctggagga	9	5	13	14	3	0	2	0	1	0	1	1	5	1	4	4	3	1	1	4	3	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:150131289C>A	ENST00000369124.4	+	6	1079	c.801C>A	c.(799-801)ggC>ggA	p.G267G	PLEKHO1_ENST00000025469.6_Silent_p.G233G|PLEKHO1_ENST00000369126.1_Silent_p.G84G	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	267	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGAAAGGCCGCTGCGCCT	0.647													20	46					1.64113e-05	1.78678e-05	1	0	A	150131289	C	A	150131289	2	1	80	1	0	0	0	0	0	0	0	1	12156	726	26	4		4	PLEKHO1	1	150131289	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	347658	150131289	99119332	11	15139											
HORMAD1	84072	broad.mit.edu	37	chr1	150689696	150689696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatactgaaactgctagaagCctcttcactaacaccaaaga	16	8	6	11	0	2	3	1	1	1	2	2	4	2	3	2	0	5	1	2	0	6	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:150689696C>A	ENST00000368993.2	-	3	201	c.96G>T	c.(94-96)agG>agT	p.R32S	HORMAD1_ENST00000322343.7_Missense_Mutation_p.R32S|HORMAD1_ENST00000361824.2_Missense_Mutation_p.R32S|HORMAD1_ENST00000368995.4_5'UTR|HORMAD1_ENST00000476530.1_5'UTR			Q86X24	HORM1_HUMAN	HORMA domain containing 1	32	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCTAGAAGCCTCTTCACTA	0.348													43	146					7.70917e-36	1.27313e-35	1	0	A	150689696	C	A	150689696	3	1	80	1	0	0	0	0	1	0	0	0	7336	738	26	4	1140	4	HORMAD1	1	150689696	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	558407	150689696	98560925	12	15140											
CTSS	1520	broad.mit.edu	37	chr1	150724474	150724474	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgaaagcccagcaagcaCcacaagaaccctaaaacaga	19	2	6	14	0	0	3	0	1	0	2	0	3	0	3	3	0	5	2	3	0	6	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:150724474C>A	ENST00000368985.3	-	5	670	c.410G>T	c.(409-411)gGt>gTt	p.G137V	CTSS_ENST00000448301.2_Missense_Mutation_p.G87V|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	137					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGCAAGCACCACAAGAACC	0.498													21	66					3.62473e-10	4.51122e-10	1	0	A	150724474	C	A	150724474	3	1	80	1	0	0	0	0	1	0	0	0	4073	507	18	4	601	4	CTSS	1	150724474	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	34778	150724474	98526147	13	15141											
FCRL4	83417	broad.mit.edu	37	chr1	157557067	157557067	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctctccaacactcacgCtgcacatggatctgtagcga	9	9	9	14	2	3	0	1	0	2	0	4	2	3	1	1	2	3	4	1	2	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:157557067C>A	ENST00000271532.1	-	5	981	c.847_splice	c.e5+1	p.Q282_splice	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	282	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AACACTCACGCTGCACATGGA	0.532													67	227					1.31726e-23	2.03362e-23	1	0	A	157557067	C	A	157557067	5	1	80	1	0	0	0	0	0	0	1	0	5842	811	28	4	733	4	FCRL4	1	157557067	Splice_Site	SNP	C	TCGA-CN-5360-01A-01D-1434-08	6832593	157557067	91693554	14	15142											
FCRL2	79368	broad.mit.edu	37	chr1	157739772	157739772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcagaaatctggagctccGgagagctgctccagcctgac	9	6	13	13	2	1	3	0	1	1	2	3	5	3	4	3	3	4	4	3	3	1	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:157739772G>A	ENST00000361516.3	-	4	527	c.479C>T	c.(478-480)cCg>cTg	p.P160L	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.P160L	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	160	Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGGAGCTCCGGAGAGCTGCT	0.537													25	86					0	0	0	0	A	157739772	G	A	157739772	3	1	80	1	0	0	0	0	1	0	0	0	5840	1116	39	1	1083	1	FCRL2	1	157739772	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	182705	157739772	91510849	15	15143											
FCRL1	115350	broad.mit.edu	37	chr1	157773822	157773822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaactgggcatctgaactCtgtagaaagggcatcttaca	12	10	11	8	0	3	2	0	1	3	1	3	3	3	3	0	3	3	3	0	3	5	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:157773822C>A	ENST00000358292.3	-	3	183	c.132G>T	c.(130-132)caG>caT	p.Q44H	FCRL1_ENST00000368176.3_Missense_Mutation_p.Q44H|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.Q44H	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	44	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CATCTGAACTCTGTAGAAAGG	0.562													38	149					2.32173e-10	2.91064e-10	1	0	A	157773822	C	A	157773822	3	1	80	1	0	0	0	0	1	0	0	0	5839	912	32	2	1259	2	FCRL1	1	157773822	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	34050	157773822	91476799	16	15144											
SPTA1	6708	broad.mit.edu	37	chr1	158636152	158636152	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccgtgtttcctgagtCgattctgtacctcggccagg	5	11	14	11	3	1	1	0	1	1	0	4	3	2	2	4	4	1	2	4	4	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:158636152C>A	ENST00000368148.3	-	16	2354	c.2174G>T	c.(2173-2175)cGa>cTa	p.R725L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R725L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	725					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTTCCTGAGTCGATTCTGTAC	0.517													10	41					2.27111e-07	2.58748e-07	1	0	A	158636152	C	A	158636152	3	1	80	1	0	0	0	0	1	0	0	0	15206	884	31	3	5233	3	SPTA1	1	158636152	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	862330	158636152	90614469	17	15145											
MNDA	4332	broad.mit.edu	37	chr1	158815619	158815619	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcattaccatatctgattaCtctgaatgtaaaggagtaat	14	14	7	6	0	3	2	1	2	2	0	3	3	3	3	1	1	2	2	1	1	7	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:158815619C>A	ENST00000368141.4	+	5	1074	c.813C>A	c.(811-813)taC>taA	p.Y271*		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	271	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TATCTGATTACTCTGAATGTA	0.343													13	67					1.49906e-05	1.63729e-05	1	0	A	158815619	C	A	158815619	4	1	80	1	0	0	0	0	0	1	0	0	9746	576	20	4	827	4	MNDA	1	158815619	Nonsense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	179467	158815619	90435002	18	15146											
DUSP27	92235	broad.mit.edu	37	chr1	167096649	167096649	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaggcagtaccagcggctAgctgcctgggggatgaccaa	10	6	15	10	1	0	2	0	2	0	0	0	3	0	3	3	4	4	4	3	4	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:167096649A>G	ENST00000361200.2	+	6	2447	c.2281A>G	c.(2281-2283)Agc>Ggc	p.S761G	DUSP27_ENST00000271385.5_Missense_Mutation_p.S761G|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.S761G			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	761					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACCAGCGGCTAGCTGCCTGGG	0.562													16	73					0	0	0	0	G	167096649	A	G	167096649	3	3	80	1	0	0	0	0	1	0	0	0	4860	420	15	5	2299	5	DUSP27	1	167096649	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	8281030	167096649	82153972	19	15147											
F5	2153	broad.mit.edu	37	chr1	169526028	169526028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggacctggccgttgaaatGaatggagaataattctggcc	12	9	12	8	1	1	3	0	2	1	1	1	5	1	4	3	4	0	1	3	4	4	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:169526028G>A	ENST00000367796.3	-	6	1009	c.808C>T	c.(808-810)Cat>Tat	p.H270Y	F5_ENST00000367797.3_Missense_Mutation_p.H270Y|F5_ENST00000546081.1_Missense_Mutation_p.H133Y			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	270	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCGTTGAAATGAATGGAGAAT	0.507													16	64					0	0	0	0	A	169526028	G	A	169526028	3	1	80	1	0	0	0	0	1	0	0	0	5386	1290	45	2	5946	2	F5	1	169526028	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2429379	169526028	79724593	20	15148											
TNR	7143	broad.mit.edu	37	chr1	175348704	175348704	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtcagggtggccctGgtggttggaccaatgcccct	5	10	13	13	0	2	0	2	0	0	0	2	1	2	1	5	5	1	1	5	5	1	1	rs140708810		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:175348704G>A	ENST00000367674.1	-	9	2655	c.1947C>T	c.(1945-1947)acC>acT	p.T649T	TNR_ENST00000263525.2_Silent_p.T649T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	649	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGGTGGCCCTGGTGGTTGGAC	0.532													19	68					0	0	0	0	A	175348704	G	A	175348704	2	1	80	1	0	0	0	0	0	0	0	1	16432	1335	47	4		4	TNR	1	175348704	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	5822676	175348704	73901917	21	15149											
PAPPA2	60676	broad.mit.edu	37	chr1	176526124	176526124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcacatttccaaccttgGcccaagcattcccttaaaca	11	12	3	15	0	2	0	1	0	1	0	4	0	4	0	4	1	3	1	4	1	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:176526124G>T	ENST00000367662.3	+	2	1830	c.666G>T	c.(664-666)tgG>tgT	p.W222C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.W222C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	222					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCAACCTTGGCCCAAGCATT	0.562													35	110					1.99505e-19	2.95388e-19	1	0	T	176526124	G	T	176526124	3	4	80	1	0	0	0	0	1	0	0	0	11504	1212	42	4	668	4	PAPPA2	1	176526124	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1177420	176526124	72724497	22	15150											
ASTN1	460	broad.mit.edu	37	chr1	176927497	176927497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcacctgacctccacagcatCctccatcacagtcatgtccg	9	9	5	18	1	3	1	3	1	0	0	7	1	7	1	6	0	1	1	6	0	0	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:176927497C>T	ENST00000367654.2	-	10	1757	c.1744G>A	c.(1744-1746)Gat>Aat	p.D582N	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D574N|ASTN1_ENST00000367657.3_Missense_Mutation_p.D574N|ASTN1_ENST00000361833.2_Missense_Mutation_p.D574N			O14525	ASTN1_HUMAN	astrotactin 1	582					cell migration|neuron cell-cell adhesion	integral to membrane		p.D574H(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCACAGCATCCTCCATCACA	0.532													13	49					0	0	0	0	T	176927497	C	T	176927497	3	4	80	1	0	0	0	0	1	0	0	0	1068	855	30	2	2224	2	ASTN1	1	176927497	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	401373	176927497	72323124	23	15151											
TDRD5	163589	broad.mit.edu	37	chr1	179587802	179587802	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actatcagttcagaactaaaAcataagataaaatttgtaag	20	11	5	5	0	2	2	2	0	0	2	2	2	2	2	0	0	2	2	0	0	8	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:179587802A>G	ENST00000444136.1	+	5	1150	c.900A>G	c.(898-900)aaA>aaG	p.K300K	TDRD5_ENST00000294848.8_Silent_p.K300K|TDRD5_ENST00000367614.1_Silent_p.K300K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	300	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAGAACTAAAACATAAGATAA	0.294													31	89					0	0	0	0	G	179587802	A	G	179587802	2	3	80	1	0	0	0	0	0	0	0	1	15827	40	2	5		5	TDRD5	1	179587802	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08	2660305	179587802	69662819	24	15152											
CACNA1E	777	broad.mit.edu	37	chr1	181690998	181690998	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctacttcattgtgctcacCttgtttggcaactgtatcct	7	17	6	11	0	3	0	2	0	1	0	4	0	4	0	2	1	3	4	2	1	3	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:181690998C>A	ENST00000526775.1	+	16	2226	c.2061C>A	c.(2059-2061)acC>acA	p.T687T	CACNA1E_ENST00000367567.4_Silent_p.T294T|CACNA1E_ENST00000360108.3_Silent_p.T687T|CACNA1E_ENST00000367573.2_Silent_p.T687T|CACNA1E_ENST00000357570.5_Silent_p.T638T|CACNA1E_ENST00000367570.1_Silent_p.T687T|CACNA1E_ENST00000358338.5_Silent_p.T638T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	687					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGTGCTCACCTTGTTTGGCA	0.537													41	139					2.26627e-22	3.44454e-22	1	0	A	181690998	C	A	181690998	2	1	80	1	0	0	0	0	0	0	0	1	2567	668	24	4		4	CACNA1E	1	181690998	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2103196	181690998	67559623	25	15153											
CACNA1E	777	broad.mit.edu	37	chr1	181731752	181731752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctttgacttcatcaccGtgattggcagtatcacagaa	12	13	7	9	1	4	3	3	2	1	1	4	3	4	3	1	1	0	2	1	1	3	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:181731752G>A	ENST00000526775.1	+	32	4756	c.4591G>A	c.(4591-4593)Gtg>Atg	p.V1531M	CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1157M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1531M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1550M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1501M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1550M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1482M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1550					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTCATCACCGTGATTGGCAG	0.388													10	26					0	0	0	0	A	181731752	G	A	181731752	3	1	80	1	0	0	0	0	1	0	0	0	2567	1145	40	1	4778	1	CACNA1E	1	181731752	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	40754	181731752	67518869	26	15154											
CFHR4	10877	broad.mit.edu	37	chr1	196871597	196871597	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacatggaggtctatattaTaagagtttgcgtagactata	14	13	9	5	1	1	2	0	0	1	2	1	3	1	3	0	2	2	2	0	2	8	8			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:196871597T>C	ENST00000367416.2	+	2	242	c.105T>C	c.(103-105)taT>taC	p.Y35Y	CFHR4_ENST00000251424.4_Silent_p.Y36Y|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GTCTATATTATAAGAGTTTGC	0.318													71	176					0	0	0	0	C	196871597	T	C	196871597	2	2	80	1	0	0	0	0	0	0	0	1	3316	1413	49	5		5	CFHR4	1	196871597	Silent	SNP	T	TCGA-CN-5360-01A-01D-1434-08	15139845	196871597	52379024	27	15155											
PTPRC	5788	broad.mit.edu	37	chr1	198701448	198701448	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcatcccgcgggtgttcaGcaagtttcctataaaggaag	11	9	12	9	2	1	0	1	0	0	0	3	2	3	1	2	2	2	4	2	2	5	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:198701448G>T	ENST00000367376.2	+	19	2159	c.1988G>T	c.(1987-1989)aGc>aTc	p.S663I	PTPRC_ENST00000348564.6_Missense_Mutation_p.S504I|PTPRC_ENST00000352140.3_Missense_Mutation_p.S615I|PTPRC_ENST00000442510.2_Missense_Mutation_p.S665I|PTPRC_ENST00000594404.1_Missense_Mutation_p.S502I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	663	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CGGGTGTTCAGCAAGTTTCCT	0.398													19	83					3.5997e-14	4.8777e-14	1	0	T	198701448	G	T	198701448	3	4	80	1	0	0	0	0	1	0	0	0	12879	971	34	4	2069	4	PTPRC	1	198701448	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1829851	198701448	50549173	28	15156											
NR5A2	2494	broad.mit.edu	37	chr1	200017865	200017865	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaaagctgagcacctttggGcttatgtgcaaaatggcaga	13	9	12	7	0	0	2	0	1	0	1	0	3	0	2	1	2	3	5	1	2	5	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:200017865G>T	ENST00000367362.3	+	5	1275	c.1029G>T	c.(1027-1029)ggG>ggT	p.G343G	NR5A2_ENST00000544748.1_Silent_p.G271G|NR5A2_ENST00000236914.3_Silent_p.G297G	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	343	Ligand-binding.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GCACCTTTGGGCTTATGTGCA	0.478													42	137					4.14194e-30	6.66396e-30	1	0	T	200017865	G	T	200017865	2	4	80	1	0	0	0	0	0	0	0	1	10707	1190	42	4		4	NR5A2	1	200017865	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1316417	200017865	49232756	29	15157											
MYOG	4656	broad.mit.edu	37	chr1	203054660	203054660	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccggtagcggaggtcacGctcctcctggttgagggagc	5	7	16	13	3	1	1	1	1	0	0	3	3	3	3	4	5	2	3	4	5	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:203054660G>C	ENST00000241651.4	-	1	504	c.430C>G	c.(430-432)Cgt>Ggt	p.R144G		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	144					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CGGAGGTCACGCTCCTCCTGG	0.701													15	41					0	0	0	0	C	203054660	G	C	203054660	3	2	80	1	0	0	0	0	1	0	0	0	10160	1087	38	3	256	3	MYOG	1	203054660	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	3036795	203054660	46195961	30	15158											
PLXNA2	5362	broad.mit.edu	37	chr1	208390886	208390886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtagaggctcccacaggCcagcaggcggttctcagagt	8	7	14	12	1	1	2	1	0	1	2	3	2	2	2	2	5	1	4	2	5	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:208390886C>T	ENST00000367033.3	-	2	1139	c.382G>A	c.(382-384)Gcc>Acc	p.A128T		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	128	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTCCCACAGGCCAGCAGGCGG	0.587													34	133					0	0	0	0	T	208390886	C	T	208390886	3	4	80	1	0	0	0	0	1	0	0	0	12192	739	26	4	5426	4	PLXNA2	1	208390886	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	5336226	208390886	40859735	31	15159											
USH2A	7399	broad.mit.edu	37	chr1	216373030	216373030	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagaactgattttctgcatCttaggtggacttagtctttg	8	17	10	6	0	3	2	0	1	3	1	3	3	3	3	0	2	2	2	0	2	4	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:216373030C>T	ENST00000366943.2	-	17	4136	c.3750G>A	c.(3748-3750)aaG>aaA	p.K1250K	USH2A_ENST00000366942.3_Silent_p.K1250K|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Silent_p.K1250K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1250	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTTCTGCATCTTAGGTGGAC	0.478										HNSCC(13;0.011)			21	80					0	0	0	0	T	216373030	C	T	216373030	2	4	80	1	0	0	0	0	0	0	0	1	17132	912	32	2		2	USH2A	1	216373030	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	7982144	216373030	32877591	32	15160											
KCNK1	3775	broad.mit.edu	37	chr1	233802661	233802661	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttatttccctgagcaccAttggcctgggggattatgtg	6	15	12	8	0	0	1	0	1	0	0	1	2	1	2	3	3	1	2	3	3	2	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:233802661A>G	ENST00000366621.3	+	2	844	c.676A>G	c.(676-678)Att>Gtt	p.I226V	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.I110V	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	226						voltage-gated potassium channel complex	inward rectifier potassium channel activity			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)	CCTGAGCACCATTGGCCTGGG	0.483													35	115					0	0	0	0	G	233802661	A	G	233802661	3	3	80	1	0	0	0	0	1	0	0	0	8111	217	8	5	682	5	KCNK1	1	233802661	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	17429631	233802661	15447960	33	15161											
RGS7	6000	broad.mit.edu	37	chr1	241094032	241094032	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaccataatctgtgttttCcggctcccaacaatttgatg	9	14	7	11	1	1	2	0	2	1	0	3	2	3	2	3	1	1	2	3	1	3	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:241094032C>A	ENST00000366565.1	-	6	751	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	RGS7_ENST00000366564.1_Nonsense_Mutation_p.E124*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.E40*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.E124*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.E98*|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366562.4_Nonsense_Mutation_p.E124*|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000407727.1_Nonsense_Mutation_p.E124*	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	124					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTGTGTTTTCCGGCTCCCAA	0.383													72	222					4.49761e-31	7.30464e-31	1	0	A	241094032	C	A	241094032	4	1	80	1	0	0	0	0	0	1	0	0	13393	864	30	2	1145	2	RGS7	1	241094032	Nonsense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	7291371	241094032	8156589	34	15162											
MAP1LC3C	440738	broad.mit.edu	37	chr1	242159636	242159636	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgctgaccaggctcttGttgttcaccagcaagtaaaa	11	11	8	11	0	3	1	2	1	1	0	3	1	3	1	2	1	2	6	2	1	3	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:242159636G>A	ENST00000357246.3	-	4	337	c.273C>T	c.(271-273)aaC>aaT	p.N91N		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	91					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCAGGCTCTTGTTGTTCACCA	0.572													41	127					0	0	0	0	A	242159636	G	A	242159636	2	1	80	1	0	0	0	0	0	0	0	1	9302	1368	48	4		4	MAP1LC3C	1	242159636	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1065604	242159636	7090985	35	15163											
PLD5	200150	broad.mit.edu	37	chr1	242511469	242511469	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctctcccatgatgtccaCggctgaaaagatcagtgcaa	12	9	8	12	1	2	3	1	2	1	1	5	3	4	3	3	1	1	2	3	1	3	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:242511469C>A	ENST00000427495.1	-	2	204	c.79G>T	c.(79-81)Gtg>Ttg	p.V27L	PLD5_ENST00000536534.1_Missense_Mutation_p.V89L|PLD5_ENST00000442594.2_5'UTR	NM_001195811.1|NM_001195812.1	NP_001182740.1|NP_001182741.1	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	89						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATGATGTCCACGGCTGAAAAG	0.448													35	128					6.97489e-18	9.94138e-18	1	0	A	242511469	C	A	242511469	3	1	80	1	0	0	0	0	1	0	0	0	12121	551	19	3		3	PLD5	1	242511469	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	351833	242511469	6739152	36	15164											
CEP170	9859	broad.mit.edu	37	chr1	243349671	243349671	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgtttgctacagcgccTgtgagccccagcgttctctg	5	11	11	14	3	1	1	0	1	1	0	2	1	1	1	3	0	6	4	3	0	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:243349671T>A	ENST00000366542.1	-	9	1213	c.1162A>T	c.(1162-1164)Agg>Tgg	p.R388W	CEP170_ENST00000366544.1_Missense_Mutation_p.R388W|CEP170_ENST00000366543.1_Missense_Mutation_p.R388W	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	388						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTACAGCGCCTGTGAGCCCCA	0.438													59	177					0	0	0	0	A	243349671	T	A	243349671	3	1	80	1	0	0	0	0	1	0	0	0	3279	1579	55	5	3670	5	CEP170	1	243349671	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	838202	243349671	5900950	37	15165											
KIF26B	55083	broad.mit.edu	37	chr1	245850938	245850938	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggcaggaggagccggaCagcctctcctattactgcgc	8	6	13	14	3	1	0	0	0	1	0	2	3	1	3	4	4	5	1	4	4	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:245850938C>G	ENST00000366518.4	+	9	3614	c.3510C>G	c.(3508-3510)gaC>gaG	p.D1170E	KIF26B_ENST00000407071.2_Missense_Mutation_p.D1551E			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1551					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGAGCCGGACAGCCTCTCCT	0.662													3	7					0	0	0	0	G	245850938	C	G	245850938	3	3	80	1	0	0	0	0	1	0	0	0	8346	477	17	4	4699	4	KIF26B	1	245850938	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2501267	245850938	3399683	38	15166											
OR2C3	81472	broad.mit.edu	37	chr1	247695329	247695329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtaggagcatggtgagcGtggagcccaccatgctggtg	7	7	18	9	2	0	1	0	1	0	0	0	3	0	3	2	5	4	3	2	5	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:247695329G>T	ENST00000366487.3	-	2	846	c.485C>A	c.(484-486)aCg>aAg	p.T162K	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CATGGTGAGCGTGGAGCCCAC	0.557													4	24					1.024e-07	1.18233e-07	1	0	T	247695329	G	T	247695329	3	4	80	1	0	0	0	0	1	0	0	0	11064	1145	40	3	481	3	OR2C3	1	247695329	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1844391	247695329	1555292	39	15167											
OR2M5	127059	broad.mit.edu	37	chr1	248308673	248308673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggacctcatgctcatctGctctaccgtacccaagatgg	9	10	8	14	1	4	1	2	0	2	1	4	2	4	2	3	2	4	3	3	2	3	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:248308673G>T	ENST00000366476.1	+	1	224	c.224G>T	c.(223-225)tGc>tTc	p.C75F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGCTCATCTGCTCTACCGTA	0.488													289	472					4.04438e-157	6.82675e-157	1	0	T	248308673	G	T	248308673	3	4	80	1	0	0	0	0	1	0	0	0	11084	1319	46	4	226	4	OR2M5	1	248308673	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	613344	248308673	941948	40	15168											
TPO	7173	broad.mit.edu	37	chr2	1459848	1459848	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatggtctcttcctacccagGtccgggaggtgacaagacat	10	9	11	11	1	1	2	0	1	1	1	4	3	3	3	3	4	1	0	3	4	3	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:1459848G>T	ENST00000345913.4	+	7	704	c.612_splice	c.e7-1	p.V205_splice	TPO_ENST00000382198.1_Splice_Site_p.V205_splice|TPO_ENST00000382201.3_Splice_Site_p.V205_splice|TPO_ENST00000346956.3_Splice_Site_p.V205_splice|TPO_ENST00000337415.3_Splice_Site_p.V205_splice|TPO_ENST00000329066.4_Splice_Site_p.V205_splice|TPO_ENST00000349624.3_Splice_Site_p.V205_splice|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	205					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCCTACCCAGGTCCGGGAGGT	0.493													7	30					0.00198382	0.00207125	1	0	T	1459848	G	T	1459848	5	4	80	1	0	0	0	0	0	0	1	0	16505	1275	44	4	635	4	TPO	2	1459848	Splice_Site	SNP	G	TCGA-CN-5360-01A-01D-1434-08		1459848	241739525	41	15169											
GREB1	9687	broad.mit.edu	37	chr2	11718542	11718542	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgaaccccagcatcctgatgGgagctcagcaggcaggtgag	10	5	14	12	1	1	2	1	2	0	0	2	4	2	3	3	3	4	4	3	3	1	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:11718542G>T	ENST00000381486.2	+	6	1057	c.757G>T	c.(757-759)Gga>Tga	p.G253*	GREB1_ENST00000389825.3_Nonsense_Mutation_p.G143*|GREB1_ENST00000234142.5_Nonsense_Mutation_p.G253*|GREB1_ENST00000381483.2_Nonsense_Mutation_p.G253*|GREB1_ENST00000263834.5_Nonsense_Mutation_p.G253*	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	253						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CATCCTGATGGGAGCTCAGCA	0.622													24	63					1.10513e-12	1.45446e-12	1	0	T	11718542	G	T	11718542	4	4	80	1	0	0	0	0	0	1	0	0	6810	1233	43	4	775	4	GREB1	2	11718542	Nonsense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	10258694	11718542	231480831	42	15170											
SLC30A3	7781	broad.mit.edu	37	chr2	27480193	27480193	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacccgtggctgtgggggggCccagcctggtgcagcacaaa	7	5	17	12	1	0	0	0	0	0	0	0	1	0	0	3	5	3	3	3	5	1	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:27480193C>G	ENST00000233535.4	-	5	958	c.606G>C	c.(604-606)ggG>ggC	p.G202G	SLC30A3_ENST00000447008.2_Silent_p.G197G	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	202					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGGGGGGGCCCAGCCTGGT	0.662													8	17					0	0	0	0	G	27480193	C	G	27480193	2	3	80	1	0	0	0	0	0	0	0	1	14644	726	26	4		4	SLC30A3	2	27480193	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	15761651	27480193	215719180	43	15171											
ABCG8	64241	broad.mit.edu	37	chr2	44079562	44079562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgggcaacatgtacgtgCgggggttgtcggggggtgag	5	8	22	6	4	0	1	0	1	0	0	1	1	0	1	0	6	3	3	0	6	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:44079562C>T	ENST00000272286.2	+	5	721	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	211	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATGTACGTGCGGGGGTTGTC	0.667													19	44					0	0	0	0	T	44079562	C	T	44079562	3	4	80	1	0	0	0	0	1	0	0	0	72	759	27	1	649	1	ABCG8	2	44079562	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	16599369	44079562	199119811	44	15172											
SPTBN1	6711	broad.mit.edu	37	chr2	54753686	54753686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggctttttgagcggtcccGcatcaaggctctggcaggtg	5	10	15	11	3	2	1	1	1	1	0	3	1	3	1	1	5	1	4	1	5	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:54753686G>T	ENST00000356805.4	+	2	412	c.131G>T	c.(130-132)cGc>cTc	p.R44L	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	44	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAGCGGTCCCGCATCAAGGCT	0.537													16	42					4.7546e-09	5.69061e-09	1	0	T	54753686	G	T	54753686	3	4	80	1	0	0	0	0	1	0	0	0	15209	1087	38	3	133	3	SPTBN1	2	54753686	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	10674124	54753686	188445687	45	15173											
CTNNA2	1496	broad.mit.edu	37	chr2	79971585	79971585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtcaaagaaagcccatGtactagctgcctctgtagag	12	8	12	9	0	2	2	1	0	1	2	2	3	2	3	2	2	4	3	2	2	5	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:79971585G>T	ENST00000466387.1	+	7	899	c.175G>T	c.(175-177)Gta>Tta	p.V59L	CTNNA2_ENST00000402739.4_Missense_Mutation_p.V59L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V59L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V59L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V59L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V93L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	59					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAAAGCCCATGTACTAGCTGC	0.433													13	38					1.41608e-15	1.94959e-15	1	0	T	79971585	G	T	79971585	3	4	80	1	0	0	0	0	1	0	0	0	4045	1377	48	4	181	4	CTNNA2	2	79971585	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	25217899	79971585	163227788	46	15174											
CTNNA2	1496	broad.mit.edu	37	chr2	80831210	80831210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttcagaggcaaaggccCattgaaaaatacatctgatg	14	11	9	7	0	2	3	1	2	1	1	2	3	2	3	1	2	1	2	1	2	4	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:80831210C>A	ENST00000466387.1	+	20	2925	c.2201C>A	c.(2200-2202)cCa>cAa	p.P734Q	CTNNA2_ENST00000402739.4_Missense_Mutation_p.P734Q|AC008067.2_ENST00000596783.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P734Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P734Q|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P734Q|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.P413Q|AC008067.2_ENST00000599412.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P768Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	734					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGCAAAGGCCCATTGAAAAAT	0.408													12	41					1.05317e-09	1.29665e-09	1	0	A	80831210	C	A	80831210	3	1	80	1	0	0	0	0	1	0	0	0	4045	594	21	4	2051	4	CTNNA2	2	80831210	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	859625	80831210	162368163	47	15175											
ZAP70	7535	broad.mit.edu	37	chr2	98340653	98340653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctatgtgctgtcgctcgtgCacgatgtgcgcttccaccac	5	11	11	14	4	0	0	0	0	0	0	3	1	1	0	2	0	3	5	2	0	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:98340653C>T	ENST00000264972.5	+	3	369	c.154C>T	c.(154-156)Cac>Tac	p.H52Y		NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	52	SH2 1.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GTCGCTCGTGCACGATGTGCG	0.677													8	8					0	0	0	0	T	98340653	C	T	98340653	3	4	80	1	0	0	0	0	1	0	0	0	17610	710	25	4	156	4	ZAP70	2	98340653	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	17509443	98340653	144858720	48	15176											
VWA3B	200403	broad.mit.edu	37	chr2	98851213	98851213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgccagcagccggaggaCtgctctaagtgacaaaggca	13	5	12	11	1	1	1	0	1	1	0	1	3	1	3	2	3	4	3	2	3	3	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:98851213C>G	ENST00000477737.1	+	17	2615	c.2411C>G	c.(2410-2412)aCt>aGt	p.T804S		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	804										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGCCGGAGGACTGCTCTAAGT	0.532													18	34					0	0	0	0	G	98851213	C	G	98851213	3	3	80	1	0	0	0	0	1	0	0	0	17337	565	20	4	2473	4	VWA3B	2	98851213	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	510560	98851213	144348160	49	15177											
NMS	129521	broad.mit.edu	37	chr2	101098739	101098739	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttgctcctttttttttcagCccaggaatggaagaaacatt	10	15	8	8	0	1	1	1	0	0	1	2	3	2	3	2	2	3	2	2	2	3	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:101098739C>A	ENST00000376865.1	+	9	422	c.414_splice	c.e9-1	p.P139_splice		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	139					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TTTTTTTCAGCCCAGGAATGG	0.423													15	90					1.3612e-06	1.52056e-06	1	0	A	101098739	C	A	101098739	5	1	80	1	0	0	0	0	0	0	1	0	10572	753	26	4	449	4	NMS	2	101098739	Splice_Site	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2247526	101098739	142100634	50	15178											
IL1RL1	9173	broad.mit.edu	37	chr2	102955393	102955393	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggattggtattactcacaaaCaaacaaaagtattcccactc	16	10	5	10	0	1	0	1	0	0	0	3	1	2	1	1	2	3	2	1	2	7	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:102955393C>G	ENST00000311734.2	+	3	497	c.158C>G	c.(157-159)aCa>aGa	p.T53R	IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000409584.1_Missense_Mutation_p.T53R|IL1RL1_ENST00000393393.3_Missense_Mutation_p.T53R|IL1RL1_ENST00000233954.1_Missense_Mutation_p.T53R			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	53	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TACTCACAAACAAACAAAAGT	0.418													54	231					0	0	0	0	G	102955393	C	G	102955393	3	3	80	1	0	0	0	0	1	0	0	0	7716	478	17	4	164	4	IL1RL1	2	102955393	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1856654	102955393	140243980	51	15179											
GPR45	11250	broad.mit.edu	37	chr2	105859167	105859167	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctggctgccccactcCgtctacagcctcctgtctgt	3	12	8	18	1	3	0	0	0	3	0	5	0	5	0	5	1	4	2	5	1	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:105859167C>T	ENST00000258456.1	+	1	968	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	284						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.S284S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGCCCCACTCCGTCTACAGCC	0.587													75	220					0	0	0	0	T	105859167	C	T	105859167	2	4	80	1	0	0	0	0	0	0	0	1	6745	639	23	1		1	GPR45	2	105859167	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2903774	105859167	137340206	52	15180											
CNTNAP5	129684	broad.mit.edu	37	chr2	125285021	125285021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacacattgatctgtgtaGcatcaaagacaggtaattat	14	14	7	6	0	2	2	1	1	1	1	2	2	2	2	0	1	2	3	0	1	5	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:125285021G>A	ENST00000431078.1	+	10	1998	c.1634G>A	c.(1633-1635)aGc>aAc	p.S545N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	545					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GATCTGTGTAGCATCAAAGAC	0.398													38	120					0	0	0	0	A	125285021	G	A	125285021	3	1	80	1	0	0	0	0	1	0	0	0	3680	971	34	4	1672	4	CNTNAP5	2	125285021	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	19425854	125285021	117914352	53	15181											
GPR17	2840	broad.mit.edu	37	chr2	128408390	128408390	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaatgtggccaggagacGccactggagaacatgctgtt	11	7	14	9	1	0	2	0	0	0	2	0	5	0	2	2	3	3	3	2	3	2	1	rs145234598		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:128408390G>A	ENST00000544369.1	+	4	776	c.165G>A	c.(163-165)acG>acA	p.T55T	GPR17_ENST00000272644.3_Silent_p.T55T|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000393018.3_Silent_p.T55T	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	55						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		gccaggagacgccactggaga	0.547											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	90					0	0	0	0	A	128408390	G	A	128408390	2	1	80	1	0	0	0	0	0	0	0	1	6716	1074	38	1		1	GPR17	2	128408390	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	3123369	128408390	114790983	54	15182											
CCNT2	905	broad.mit.edu	37	chr2	135711427	135711427	+	Frame_Shift_Del	DEL	G	G	-																															tagaacagcagcacaaacaaGggcagtcacaggcagccagc																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:135711427delG	ENST00000264157.5	+	9	1432	c.1402delG	c.(1402-1404)ggfs	p.G468fs	CCNT2_ENST00000295238.6_Frame_Shift_Del_p.G468fs|CCNT2_ENST00000537343.1_Frame_Shift_Del_p.G293fs	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	468					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		GCACAAACAAGGGCAGTCACA	0.388													13	71	---	---	---	---					-	135711427	G	-	135711427	7	5	80	1	0	1	0	1	0	0	0	0	2964	1000	35	0	1436	0	CCNT2	2	135711427	Frame_Shift_Del	DEL	G	TCGA-CN-5360-01A-01D-1434-08	7303037	135711427	107487946	55	15183											
UBXN4	23190	broad.mit.edu	37	chr2	136499519	136499519	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgctgtggttccagggcgCcattccggccgccatcgcga	5	8	14	14	5	0	0	0	0	0	0	3	2	2	0	5	3	1	2	5	3	0	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:136499519C>G	ENST00000272638.9	+	1	331	c.20C>G	c.(19-21)gCc>gGc	p.A7G		NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	7					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTCCAGGGCGCCATTCCGGCC	0.701													7	23					0	0	0	0	G	136499519	C	G	136499519	3	3	80	1	0	0	0	0	1	0	0	0	17012	739	26	4	22	4	UBXN4	2	136499519	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	788092	136499519	106699854	56	15184											
LRP1B	53353	broad.mit.edu	37	chr2	141130602	141130602	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacagcttttctcatcttcCccatatttgcagtcttcatg	7	17	4	13	0	5	0	3	0	3	0	7	0	6	0	2	0	2	2	2	0	1	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:141130602C>A	ENST00000389484.3	-	69	11714	c.10743G>T	c.(10741-10743)ggG>ggT	p.G3581G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3581	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTCATCTTCCCCATATTTGC	0.363										TSP Lung(27;0.18)			45	183					1.00221e-16	1.39659e-16	1	0	A	141130602	C	A	141130602	2	1	80	1	0	0	0	0	0	0	0	1	9019	610	22	4		4	LRP1B	2	141130602	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	4631083	141130602	102068771	57	15185											
LRP1B	53353	broad.mit.edu	37	chr2	141460116	141460116	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccccattcagtccagaaCaagaggctgaaattaaattg	14	10	8	9	0	1	3	1	1	0	2	3	3	3	3	3	1	1	1	3	1	5	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:141460116C>A	ENST00000389484.3	-	38	7001	c.6030G>T	c.(6028-6030)ttG>ttT	p.L2010F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2010					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTCCAGAACAAGAGGCTGA	0.398										TSP Lung(27;0.18)			18	80					2.37509e-13	3.16219e-13	1	0	A	141460116	C	A	141460116	3	1	80	1	0	0	0	0	1	0	0	0	9019	477	17	4	7985	4	LRP1B	2	141460116	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	329514	141460116	101739257	58	15186											
MBD5	55777	broad.mit.edu	37	chr2	149226486	149226486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactaatatggaaataccacGagcaatgttccaccacaaac	18	7	5	11	1	0	0	0	0	0	0	1	2	1	1	3	1	4	2	3	1	7	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:149226486G>T	ENST00000407073.1	+	9	1971	c.974G>T	c.(973-975)cGa>cTa	p.R325L	MBD5_ENST00000404807.1_Missense_Mutation_p.R325L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	325						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GAAATACCACGAGCAATGTTC	0.433													23	59					2.89027e-11	3.71838e-11	1	0	T	149226486	G	T	149226486	3	4	80	1	0	0	0	0	1	0	0	0	9416	1058	37	3	988	3	MBD5	2	149226486	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	7766370	149226486	93972887	59	15187											
GALNT13	114805	broad.mit.edu	37	chr2	155102362	155102362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcattgatgtgattagtGatgatacttttgaatatatg	12	18	8	3	0	1	5	1	5	0	0	1	5	1	5	0	0	1	0	0	0	6	8			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:155102362G>T	ENST00000392825.3	+	7	1291	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	GALNT13_ENST00000409237.1_Missense_Mutation_p.D242Y	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	242						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTGATTAGTGATGATACTTT	0.363													43	142					1.51926e-22	2.31425e-22	1	0	T	155102362	G	T	155102362	3	4	80	1	0	0	0	0	1	0	0	0	6260	1290	45	2	742	2	GALNT13	2	155102362	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	5875876	155102362	88097011	60	15188											
GALNT13	114805	broad.mit.edu	37	chr2	155158090	155158090	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttaaagatttcttctacAtcatatccccaggtacacaa	15	13	3	10	0	3	1	1	0	2	1	4	1	4	1	2	1	2	1	2	1	7	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:155158090A>T	ENST00000392825.3	+	9	1711	c.1144A>T	c.(1144-1146)Atc>Ttc	p.I382F	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.I382F	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	382						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTTCTTCTACATCATATCCCC	0.353													40	136					0	0	0	0	T	155158090	A	T	155158090	3	4	80	1	0	0	0	0	1	0	0	0	6260	217	8	5	1170	5	GALNT13	2	155158090	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	55728	155158090	88041283	61	15189											
RBMS1	5937	broad.mit.edu	37	chr2	161223858	161223858	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttattactgctggtggtGctgggactgggaggggccat	5	13	17	6	0	0	0	0	0	0	0	0	2	0	2	1	6	3	3	1	6	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:161223858G>A	ENST00000348849.3	-	2	550	c.120C>T	c.(118-120)agC>agT	p.S40S	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Silent_p.S7S|RBMS1_ENST00000409972.1_Silent_p.S7S|RBMS1_ENST00000409075.1_Silent_p.S7S|RBMS1_ENST00000392753.3_Silent_p.S40S	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	40					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								tgctggtggtgctgGGACTGG	0.537													31	74					0	0	0	0	A	161223858	G	A	161223858	2	1	80	1	0	0	0	0	0	0	0	1	13230	1310	46	4		4	RBMS1	2	161223858	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	6065768	161223858	81975515	62	15190											
SCN3A	6328	broad.mit.edu	37	chr2	166019249	166019249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcagcccaatgagagCaaacacgctcagacagaaca	16	3	9	13	1	1	3	1	1	0	3	1	4	1	3	1	0	6	4	1	0	3	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:166019249C>T	ENST00000360093.3	-	8	1275	c.784G>A	c.(784-786)Gct>Act	p.A262T	SCN3A_ENST00000409101.3_Missense_Mutation_p.A262T|SCN3A_ENST00000283254.7_Missense_Mutation_p.A262T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	262						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCAATGAGAGCAAACACGCTC	0.483													34	98					0	0	0	0	T	166019249	C	T	166019249	3	4	80	1	0	0	0	0	1	0	0	0	14005	710	25	4	5302	4	SCN3A	2	166019249	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	4795391	166019249	77180124	63	15191											
SCN2A	6326	broad.mit.edu	37	chr2	166187857	166187857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacttgaagaatccagaCagaaatgcccaccatgctgg	15	6	9	11	0	0	5	0	1	0	4	1	5	1	5	3	1	3	1	3	1	4	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:166187857C>G	ENST00000375437.2	+	14	2457	c.2167C>G	c.(2167-2169)Cag>Gag	p.Q723E	SCN2A_ENST00000375427.2_Missense_Mutation_p.Q723E|SCN2A_ENST00000357398.3_Missense_Mutation_p.Q723E|SCN2A_ENST00000283256.6_Missense_Mutation_p.Q723E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	723					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGAATCCAGACAGAAATGCCC	0.338													25	92					0	0	0	0	G	166187857	C	G	166187857	3	3	80	1	0	0	0	0	1	0	0	0	14003	479	17	4	2313	4	SCN2A	2	166187857	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	168608	166187857	77011516	64	15192											
GALNT3	2591	broad.mit.edu	37	chr2	166606398	166606398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatgttgagcagagtattCaaagtactatggaaggaata	15	12	10	4	0	2	2	2	1	0	1	2	4	2	4	0	2	2	4	0	2	7	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:166606398C>T	ENST00000392701.3	-	10	2408	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	GALNT3_ENST00000409882.1_Missense_Mutation_p.E283K	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	545	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E545K(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCAGAGTATTCAAAGTACTAT	0.383													33	130					0	0	0	0	T	166606398	C	T	166606398	3	4	80	1	0	0	0	0	1	0	0	0	6263	835	29	2	276	2	GALNT3	2	166606398	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	418541	166606398	76592975	65	15193											
LRP2	4036	broad.mit.edu	37	chr2	170136935	170136935	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccacggccactccacgAttctgagactccactaggat	11	7	7	16	2	1	1	0	1	1	1	3	4	3	2	4	2	0	0	4	2	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:170136935A>G	ENST00000263816.3	-	11	1551	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	LRP2_ENST00000443831.1_Silent_p.N422N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	422					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCACTCCACGATTCTGAGACT	0.448													17	75					0	0	0	0	G	170136935	A	G	170136935	2	3	80	1	0	0	0	0	0	0	0	1	9020	330	12	5		5	LRP2	2	170136935	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08	3530537	170136935	73062438	66	15194											
GPR155	151556	broad.mit.edu	37	chr2	175326175	175326175	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaatgctatctccattGtgttttccagttatcaaaag	11	15	7	8	0	3	0	2	0	1	0	5	1	4	0	2	0	1	3	2	0	5	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:175326175G>A	ENST00000392552.2	-	9	1753	c.1515C>T	c.(1513-1515)caC>caT	p.H505H	GPR155_ENST00000295500.4_Silent_p.H505H|GPR155_ENST00000392551.2_Silent_p.H505H	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	505					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TATCTCCATTGTGTTTTCCAG	0.383													43	137					0	0	0	0	A	175326175	G	A	175326175	2	1	80	1	0	0	0	0	0	0	0	1	6709	1368	48	4		4	GPR155	2	175326175	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	5189240	175326175	67873198	67	15195											
TTN	7273	broad.mit.edu	37	chr2	179437412	179437412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatttccaacaataagcaGggtgtaagagcttgtggatt	13	12	10	6	0	0	1	0	0	0	1	1	2	1	2	1	2	4	3	1	2	5	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179437412G>T	ENST00000589042.1	-	326	73671	c.73447C>A	c.(73447-73449)Ctg>Atg	p.L24483M	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L22842M|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L15610M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L21915M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L15543M|TTN_ENST00000460472.2_Missense_Mutation_p.L15418M|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22842	Fibronectin type-III 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAATAAGCAGGGTGTAAGAG	0.428													38	97					4.32679e-17	6.07874e-17	1	0	T	179437412	G	T	179437412	3	4	80	1	0	0	0	0	1	0	0	0	16831	991	35	4	34680	4	TTN	2	179437412	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	4111237	179437412	63761961	68	15196											
TTN	7273	broad.mit.edu	37	chr2	179476296	179476296	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggacacatttcaacatggTatcctatgataggacttcca	12	12	7	10	0	1	1	1	1	0	0	3	3	3	3	2	3	1	1	2	3	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179476296T>A	ENST00000589042.1	-	269	50884	c.50660A>T	c.(50659-50661)tAc>tTc	p.Y16887F	TTN_ENST00000591111.1_Missense_Mutation_p.Y15246F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y8014F|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y14319F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y7947F|TTN_ENST00000460472.2_Missense_Mutation_p.Y7822F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15246	Fibronectin type-III 22.						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)			TTCAACATGGTATCCTATGAT	0.438													41	135					0	0	0	0	A	179476296	T	A	179476296	3	1	80	1	0	0	0	0	1	0	0	0	16831	1638	57	5	57409	5	TTN	2	179476296	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	38884	179476296	63723077	69	15197											
TTN	7273	broad.mit.edu	37	chr2	179537416	179537416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacaggtactttttcctcagGaattttctttgacactttaa	11	17	5	8	0	2	1	1	1	1	0	3	2	3	2	1	2	2	1	1	2	4	8			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179537416G>T	ENST00000589042.1	-	153	35025	c.34801C>A	c.(34801-34803)Cct>Act	p.P11601T	TTN_ENST00000591111.1_Missense_Mutation_p.P11227T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10300T|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11433	Glu-rich.|Pro-rich.						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)			TTTTCCTCAGGAATTTTCTTT	0.373													6	24					1.06961e-07	1.23086e-07	1	0	T	179537416	G	T	179537416	3	4	80	1	0	0	0	0	1	0	0	0	16831	1174	41	2	69747	2	TTN	2	179537416	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	61120	179537416	63661957	70	15198											
TTN	7273	broad.mit.edu	37	chr2	179588378	179588378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggttacatttttgcctGgtagtacttccaaaggttca	10	15	9	7	0	1	1	1	1	0	0	2	1	2	1	2	3	3	4	2	3	5	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179588378G>T	ENST00000589042.1	-	74	21673	c.21449C>A	c.(21448-21450)cCa>cAa	p.P7150Q	TTN_ENST00000591111.1_Missense_Mutation_p.P6833Q|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P5906Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6833	Ig-like 53.						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)			ATTTTTGCCTGGTAGTACTTC	0.433													11	27					0.00829132	0.00855276	1	0	T	179588378	G	T	179588378	3	4	80	1	0	0	0	0	1	0	0	0	16831	1348	47	4	83236	4	TTN	2	179588378	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	50962	179588378	63610995	71	15199											
TTN	7273	broad.mit.edu	37	chr2	179603084	179603084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttcctcttgatcactgggGcagctgcaaagggaagtaga	10	11	12	8	0	2	2	1	1	1	1	3	3	3	3	1	3	2	4	1	3	3	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179603084G>A	ENST00000589042.1	-	49	14320	c.14096C>T	c.(14095-14097)gCc>gTc	p.A4699V	TTN_ENST00000591111.1_Missense_Mutation_p.A4382V|TTN_ENST00000342175.6_Missense_Mutation_p.A4528V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A3455V|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A4461V|TTN_ENST00000460472.2_Missense_Mutation_p.A4336V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4382	Ig-like 27.						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)			GATCACTGGGGCAGCTGCAAA	0.453													11	43					0	0	0	0	A	179603084	G	A	179603084	3	1	80	1	0	0	0	0	1	0	0	0	16831	1203	42	4	90689	4	TTN	2	179603084	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	14706	179603084	63596289	72	15200											
TTN	7273	broad.mit.edu	37	chr2	179605479	179605479	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagaataccttctttggagaAggttttctgggactgtacaa	11	14	10	6	0	2	2	0	0	2	2	2	4	2	3	1	3	2	2	1	3	6	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179605479A>T	ENST00000589042.1	-	48	12705	c.12481T>A	c.(12481-12483)Ttc>Atc	p.F4161I	TTN_ENST00000591111.1_Missense_Mutation_p.F3844I|TTN_ENST00000342175.6_Missense_Mutation_p.F3990I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F3923I|TTN_ENST00000460472.2_Missense_Mutation_p.F3798I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3844							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)			TCTTTGGAGAAGGTTTTCTGG	0.448													50	158					0	0	0	0	T	179605479	A	T	179605479	3	4	80	1	0	0	0	0	1	0	0	0	16831	72	3	5	92308	5	TTN	2	179605479	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	2395	179605479	63593894	73	15201											
TTN	7273	broad.mit.edu	37	chr2	179611115	179611115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatcatacttttatggtcagGagtaaattcgggaactgtca	13	13	9	6	1	3	0	3	0	0	0	4	2	3	2	0	3	2	1	0	3	6	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179611115G>T	ENST00000360870.5	-	46	16234	c.16012C>A	c.(16012-16014)Cct>Act	p.P5338T	TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8847	Ig-like 34.						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)			TTATGGTCAGGAGTAAATTCG	0.348													21	89					1.01871e-10	1.28414e-10	1	0	T	179611115	G	T	179611115	3	4	80	1	0	0	0	0	1	0	0	0	16831	1174	41	2	94285	2	TTN	2	179611115	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	5636	179611115	63588258	74	15202											
TTN	7273	broad.mit.edu	37	chr2	179611834	179611834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctctagagtctctcctgggGgtgtggagtatctctccaga	6	12	13	10	0	3	2	0	0	3	2	7	3	5	3	2	3	0	2	2	3	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179611834G>T	ENST00000360870.5	-	46	15515	c.15293C>A	c.(15292-15294)cCc>cAc	p.P5098H	TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1206	Ig-like 31.						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)			CTCTCCTGGGGGTGTGGAGTA	0.522													41	147					6.2361e-21	9.35416e-21	1	0	T	179611834	G	T	179611834	3	4	80	1	0	0	0	0	1	0	0	0	16831	1232	43	4	95004	4	TTN	2	179611834	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	719	179611834	63587539	75	15203											
TTN	7273	broad.mit.edu	37	chr2	179635394	179635394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcttcagagtcttcttaaTtttgacagctaaagacaaat	13	15	6	7	0	4	3	1	1	3	2	4	3	4	3	0	0	1	2	0	0	4	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179635394T>C	ENST00000589042.1	-	35	8349	c.8125A>G	c.(8125-8127)Att>Gtt	p.I2709V	TTN_ENST00000591111.1_Missense_Mutation_p.I2709V|TTN_ENST00000342175.6_Missense_Mutation_p.I2663V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I2709V|TTN_ENST00000360870.5_Missense_Mutation_p.I2709V|TTN_ENST00000359218.5_Missense_Mutation_p.I2663V|TTN_ENST00000460472.2_Missense_Mutation_p.I2663V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2447							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)			GTCTTCTTAATTTTGACAGCT	0.393													49	129					0	0	0	0	C	179635394	T	C	179635394	3	2	80	1	0	0	0	0	1	0	0	0	16831	1493	52	5	103175	5	TTN	2	179635394	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	23560	179635394	63563979	76	15204											
SESTD1	91404	broad.mit.edu	37	chr2	180014079	180014079	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgttaatcaaagcaagttCatctaataatgatgtagatt	16	15	6	4	0	3	2	2	1	1	1	3	2	3	2	0	0	1	4	0	0	6	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:180014079C>G	ENST00000428443.3	-	7	842	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	176					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	p.E176K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAAGCAAGTTCATCTAATAAT	0.289													13	34					0	0	0	0	G	180014079	C	G	180014079	3	3	80	1	0	0	0	0	1	0	0	0	14214	835	29	2	1612	2	SESTD1	2	180014079	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	378685	180014079	63185294	77	15205											
ZNF385B	151126	broad.mit.edu	37	chr2	180634252	180634252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgctgctgttgctgctgggGctggcctgggcgggtggtgg	0	11	22	8	1	0	0	0	0	0	0	0	0	0	0	1	7	4	6	1	7	0	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:180634252G>C	ENST00000410066.1	-	3	834	c.231C>G	c.(229-231)agC>agG	p.S77R		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	77						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TGCTGCTGGGGCTGGCCTGGG	0.607													9	61					0	0	0	0	C	180634252	G	C	180634252	3	2	80	1	0	0	0	0	1	0	0	0	17972	1194	42	4	1245	4	ZNF385B	2	180634252	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	620173	180634252	62565121	78	15206											
NEUROD1	4760	broad.mit.edu	37	chr2	182543323	182543323	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagccttagtcatcttctTctttttggggccgcgtctct	3	16	10	12	3	5	0	1	0	4	0	6	1	5	0	2	2	1	0	2	2	1	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:182543323T>G	ENST00000295108.3	-	2	722	c.265A>C	c.(265-267)Aag>Cag	p.K89Q	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	89	Poly-Lys.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTCATCTTCTTCTTTTTGGGG	0.567													10	37					0	0	0	0	G	182543323	T	G	182543323	3	3	80	1	0	0	0	0	1	0	0	0	10418	1792	62	5	809	5	NEUROD1	2	182543323	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	1909071	182543323	60656050	79	15207											
DNAJC10	54431	broad.mit.edu	37	chr2	183594599	183594599	+	Silent	SNP	A	A	C																															cagtgaaatatcatggagacAgatcaaaggagagtttagtg																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:183594599A>C	ENST00000264065.6	+	8	1073	c.658A>C	c.(658-660)Aga>Cga	p.R220R	DNAJC10_ENST00000537515.1_Silent_p.R220R	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	220	Thioredoxin 1.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCATGGAGACAGATCAAAGGA	0.308													26	106					0	0	0	0	C	183594599	A	C	183594599	2	2	80	1	0	0	0	0	0	0	0	1	4665	180	7	5		5	DNAJC10	2	183594599	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08	1051276	183594599	59604774	80	15208	130	2									
DNAJC10	54431	broad.mit.edu	37	chr2	183594600	183594600	+	Missense_Mutation	SNP	G	G	T																															agtgaaatatcatggagacaGatcaaaggagagtttagtga																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:183594600G>T	ENST00000264065.6	+	8	1074	c.659G>T	c.(658-660)aGa>aTa	p.R220I	DNAJC10_ENST00000537515.1_Missense_Mutation_p.R220I	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	220	Thioredoxin 1.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CATGGAGACAGATCAAAGGAG	0.313													26	106					1.22384e-17	1.73356e-17	1	0	T	183594600	G	T	183594600	3	4	80	1	0	0	0	0	1	0	0	0	4665	942	33	2	681	2	DNAJC10	2	183594600	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1	183594600	59604773	81	15209	130	2									
CALCRL	10203	broad.mit.edu	37	chr2	188245205	188245205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgacataccttcactttctCgtgggtgttaacattacact	10	15	6	10	1	2	1	1	1	1	0	3	1	2	1	1	1	3	1	1	1	3	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:188245205C>T	ENST00000409998.1	-	8	1178	c.397G>A	c.(397-399)Gag>Aag	p.E133K	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.E133K|CALCRL_ENST00000392370.3_Missense_Mutation_p.E133K			Q16602	CALRL_HUMAN	calcitonin receptor-like	133						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTCACTTTCTCGTGGGTGTTA	0.338													10	253					0	0	0	0	T	188245205	C	T	188245205	3	4	80	1	0	0	0	0	1	0	0	0	2605	893	31	1	1024	1	CALCRL	2	188245205	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	4650605	188245205	54954168	82	15210											
COL3A1	1281	broad.mit.edu	37	chr2	189870076	189870076	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcattcctttgtatacagGgtgaaagtgggaaaccagga	12	12	11	6	0	1	1	1	1	0	0	2	3	2	3	2	3	2	1	2	3	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:189870076G>T	ENST00000304636.3	+	41	3102	c.2931_splice	c.e41-1	p.G978_splice	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	978	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTGTATACAGGGTGAAAGTGG	0.413													32	150					1.45844e-13	1.94931e-13	1	0	T	189870076	G	T	189870076	5	4	80	1	0	0	0	0	0	0	1	0	3718	1246	43	4	3094	4	COL3A1	2	189870076	Splice_Site	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1624871	189870076	53329297	83	15211											
SLC40A1	30061	broad.mit.edu	37	chr2	190430079	190430079	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatcattgtgttcagtttaCctttgtgtaaattcagctgt	9	18	8	6	0	3	1	3	0	0	1	3	1	3	1	1	0	2	4	1	0	3	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:190430079C>A	ENST00000261024.2	-	6	1187		c.e6+1			NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1						anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GTTCAGTTTACCTTTGTGTAA	0.368													23	49					1.85244e-09	2.25643e-09	1	0	A	190430079	C	A	190430079	5	1	80	1	0	0	0	0	0	0	1	0	14716	521	18	4	966	4	SLC40A1	2	190430079	Splice_Site	SNP	C	TCGA-CN-5360-01A-01D-1434-08	560003	190430079	52769294	84	15212											
ANKRD44	91526	broad.mit.edu	37	chr2	197943433	197943433	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaacaactcaccaattcCagacactgcctgtgcccata	15	7	4	15	0	1	1	1	0	0	1	2	1	2	1	4	0	4	0	4	0	5	2	rs146996314		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:197943433C>A	ENST00000328737.2	-	16	1645	c.1569G>T	c.(1567-1569)ctG>ctT	p.L523L	ANKRD44_ENST00000282272.8_Silent_p.L540L|ANKRD44_ENST00000539527.1_Silent_p.L476L|ANKRD44_ENST00000409153.1_Silent_p.L548L|ANKRD44_ENST00000450567.1_Silent_p.L523L|ANKRD44_ENST00000337207.5_Silent_p.L523L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	548							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCACCAATTCCAGACACTGCC	0.418													11	20					0.000219431	0.000234812	1	0	A	197943433	C	A	197943433	2	1	80	1	0	0	0	0	0	0	0	1	671	581	21	4		4	ANKRD44	2	197943433	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	7513354	197943433	45255940	85	15213											
KLF7	8609	broad.mit.edu	37	chr2	207989096	207989096	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagatcctccggggctcCgtctgtaggtagcgttccaa	6	11	12	12	3	2	1	0	1	2	1	6	2	6	1	4	3	1	4	4	3	3	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:207989096C>G	ENST00000309446.6	-	2	511	c.135G>C	c.(133-135)acG>acC	p.T45T	KLF7_ENST00000458272.1_Silent_p.T45T|KLF7_ENST00000423015.1_Silent_p.T45T|KLF7_ENST00000421199.1_Silent_p.T12T|KLF7_ENST00000467833.1_5'UTR|KLF7_ENST00000412414.2_Silent_p.T17T	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	45					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		TCCGGGGCTCCGTCTGTAGGT	0.557													9	24					0	0	0	0	G	207989096	C	G	207989096	2	3	80	1	0	0	0	0	0	0	0	1	8403	639	23	3		3	KLF7	2	207989096	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	10045663	207989096	35210277	86	15214											
FN1	2335	broad.mit.edu	37	chr2	216251534	216251534	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaattccgagagtggggcAcccgatcttctcgaggtctc	7	10	13	11	3	3	1	0	0	3	1	6	5	4	2	2	4	0	1	2	4	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:216251534A>C	ENST00000354785.4	-	28	4859	c.4490T>G	c.(4489-4491)gTg>gGg	p.V1497G	FN1_ENST00000421182.1_Missense_Mutation_p.V1406G|FN1_ENST00000357009.2_Missense_Mutation_p.V1406G|FN1_ENST00000336916.4_Missense_Mutation_p.V1406G|FN1_ENST00000356005.4_Missense_Mutation_p.V1406G|FN1_ENST00000345488.5_Missense_Mutation_p.V1406G|FN1_ENST00000346544.3_Missense_Mutation_p.V1406G|FN1_ENST00000357867.4_Missense_Mutation_p.V1406G|FN1_ENST00000359671.1_Missense_Mutation_p.V1406G|FN1_ENST00000446046.1_Missense_Mutation_p.V1406G|FN1_ENST00000323926.6_Missense_Mutation_p.V1497G|FN1_ENST00000432072.2_Missense_Mutation_p.V1497G|FN1_ENST00000443816.1_Missense_Mutation_p.V1406G			P02751	FINC_HUMAN	fibronectin 1	1496	Cell-attachment.|Fibronectin type-III 10.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAGTGGGGCACCCGATCTTC	0.542													12	40					0	0	0	0	C	216251534	A	C	216251534	3	2	80	1	0	0	0	0	1	0	0	0	6007	159	6	5	3019	5	FN1	2	216251534	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	8262438	216251534	26947839	87	15215											
CUL3	8452	broad.mit.edu	37	chr2	225400280	225400280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctctaatcatcaccatagCtgtttgatgatcattccaag	11	14	6	10	0	4	2	3	2	1	0	6	2	5	2	2	0	1	2	2	0	3	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:225400280C>T	ENST00000264414.4	-	3	681	c.343G>A	c.(343-345)Gct>Act	p.A115T	CUL3_ENST00000409777.1_Missense_Mutation_p.A91T|CUL3_ENST00000409096.1_Missense_Mutation_p.A91T|CUL3_ENST00000344951.4_Missense_Mutation_p.A49T|CUL3_ENST00000432260.2_5'UTR	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	115					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATCACCATAGCTGTTTGATGA	0.343													13	35					0	0	0	0	T	225400280	C	T	225400280	3	4	80	1	0	0	0	0	1	0	0	0	4088	797	28	4	2019	4	CUL3	2	225400280	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	9148746	225400280	17799093	88	15216											
SPHKAP	80309	broad.mit.edu	37	chr2	228882377	228882377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcagtaaccgattccgggGatagccctgcgcctgccaca	9	7	10	15	3	1	0	1	0	0	0	2	2	2	1	5	2	4	1	5	2	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:228882377G>T	ENST00000392056.3	-	7	3239	c.3193C>A	c.(3193-3195)Ccc>Acc	p.P1065T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1065T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1065						cytoplasm	protein binding	p.P1065T(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGATTCCGGGGATAGCCCTGC	0.562													25	45					3.73808e-20	5.58274e-20	1	0	T	228882377	G	T	228882377	3	4	80	1	0	0	0	0	1	0	0	0	15138	1174	41	2	1933	2	SPHKAP	2	228882377	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	3482097	228882377	14316996	89	15217											
SP140L	93349	broad.mit.edu	37	chr2	231249970	231249970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgatggccagctggtctcGagtgaaaagaaggcgaacat	12	6	14	9	3	1	2	0	1	1	1	2	5	1	2	2	3	2	1	2	3	4	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:231249970G>A	ENST00000243810.6	+	9	735	c.735G>A	c.(733-735)tcG>tcA	p.S245S	SP140L_ENST00000415673.2_Silent_p.S245S|SP140L_ENST00000396563.4_Silent_p.S245S|SP140L_ENST00000444636.1_Silent_p.S245S			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	245						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AGCTGGTCTCGAGTGAAAAGA	0.458													3	55					0	0	0	0	A	231249970	G	A	231249970	2	1	80	1	0	0	0	0	0	0	0	1	15051	1045	37	1		1	SP140L	2	231249970	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2367593	231249970	11949403	90	15218											
COL6A3	1293	broad.mit.edu	37	chr2	238296331	238296331	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaaagctacggaattccggGacagtaaacaccaagttgtc	14	7	9	11	2	0	0	0	0	0	0	2	2	1	2	3	2	3	3	3	2	6	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:238296331G>T	ENST00000295550.4	-	4	1658	c.1206C>A	c.(1204-1206)gtC>gtA	p.V402V	COL6A3_ENST00000346358.4_Silent_p.V402V|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Silent_p.V196V|COL6A3_ENST00000409809.1_Silent_p.V196V|COL6A3_ENST00000353578.4_Silent_p.V196V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	402	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAATTCCGGGACAGTAAACA	0.542													4	21					0.00909568	0.00931257	1	0	T	238296331	G	T	238296331	2	4	80	1	0	0	0	0	0	0	0	1	3731	1161	41	2		2	COL6A3	2	238296331	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	7046361	238296331	4903042	91	15219											
OXTR	5021	broad.mit.edu	37	chr3	8809254	8809254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccggcacgatgtagacaGctagcgtgatccatgtgatg	10	9	13	9	3	0	4	0	3	0	1	1	5	1	4	2	1	2	3	2	1	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:8809254G>A	ENST00000316793.3	-	3	1244	c.620C>T	c.(619-621)gCt>gTt	p.A207V	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	207					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GATGTAGACAGCTAGCGTGAT	0.612													17	28					0	0	0	0	A	8809254	G	A	8809254	3	1	80	1	0	0	0	0	1	0	0	0	11409	971	34	4	557	4	OXTR	3	8809254	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08		8809254	189213176	92	15220											
SLC6A11	6538	broad.mit.edu	37	chr3	10861414	10861414	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcattggctatgcaacaCaggtgattgaggcccatctg	10	9	12	10	0	1	2	0	2	1	0	1	2	1	2	1	4	2	3	1	4	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:10861414C>G	ENST00000254488.2	+	3	475	c.409C>G	c.(409-411)Cag>Gag	p.Q137E	SLC6A11_ENST00000454147.1_Missense_Mutation_p.Q137E	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	137					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CTATGCAACACAGGTGATTGA	0.448													48	112					0	0	0	0	G	10861414	C	G	10861414	3	3	80	1	0	0	0	0	1	0	0	0	14762	479	17	4	419	4	SLC6A11	3	10861414	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2052160	10861414	187161016	93	15221											
C3orf20	84077	broad.mit.edu	37	chr3	14755664	14755664	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcactacaacctaaaaacCaggtaagtggactgggagag	15	7	11	8	0	1	1	1	0	0	1	1	3	1	2	2	3	3	2	2	3	6	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:14755664C>A	ENST00000253697.3	+	8	1763	c.1311C>A	c.(1309-1311)acC>acA	p.T437T	C3orf20_ENST00000435614.1_Silent_p.T315T|C3orf20_ENST00000412910.1_Silent_p.T315T|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	437						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ACCTAAAAACCAGGTAAGTGG	0.498													18	33					9.16793e-09	1.08968e-08	1	0	A	14755664	C	A	14755664	2	1	80	1	0	0	0	0	0	0	0	1	2233	581	21	4		4	C3orf20	3	14755664	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	3894250	14755664	183266766	94	15222											
SH3BP5	9467	broad.mit.edu	37	chr3	15300345	15300345	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgacttaccagaaatGgcatcaggctcaggtttgct	9	10	10	12	0	2	2	2	1	0	1	2	2	2	2	3	3	2	4	3	3	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:15300345G>A	ENST00000383791.3	-	7	1102	c.882C>T	c.(880-882)gcC>gcT	p.A294A	SH3BP5_ENST00000408919.3_Silent_p.A137A|SH3BP5_ENST00000253688.5_Silent_p.A137A|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000426925.1_Silent_p.A137A|SH3BP5-AS1_ENST00000413977.1_RNA	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	294	Ser-rich.				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						TACCAGAAATGGCATCAGGCT	0.572													18	37					0	0	0	0	A	15300345	G	A	15300345	2	1	80	1	0	0	0	0	0	0	0	1	14334	1335	47	4		4	SH3BP5	3	15300345	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	544681	15300345	182722085	95	15223											
ZNF385D	79750	broad.mit.edu	37	chr3	21478684	21478684	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgatattgctggtgtccCtgcagtaccgtctgtattca	6	15	10	10	2	2	1	1	1	1	0	3	1	3	1	2	1	3	5	2	1	3	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:21478684C>A	ENST00000281523.2	-	5	969	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	151	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCTGGTGTCCCTGCAGTACCG	0.408													35	58					3.09479e-21	4.66254e-21	1	0	A	21478684	C	A	21478684	3	1	80	1	0	0	0	0	1	0	0	0	17973	681	24	4	752	4	ZNF385D	3	21478684	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	6178339	21478684	176543746	96	15224											
NEK10	152110	broad.mit.edu	37	chr3	27216146	27216146	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccactagcagtacctttcTcagcattttccaggttgaag	9	13	8	11	0	1	1	1	1	1	0	3	1	2	1	3	1	4	4	3	1	3	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:27216146T>C	ENST00000429845.2	-	28	3046	c.2684A>G	c.(2683-2685)gAg>gGg	p.E895G	NEK10_ENST00000383770.3_Missense_Mutation_p.E207G|NEK10_ENST00000295720.6_Missense_Mutation_p.E207G|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383771.4_Missense_Mutation_p.E207G|NEK10_ENST00000357467.2_Missense_Mutation_p.E292G			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	895							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E895V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGTACCTTTCTCAGCATTTTC	0.483													41	103					0	0	0	0	C	27216146	T	C	27216146	3	2	80	1	0	0	0	0	1	0	0	0	10392	1566	54	5		5	NEK10	3	27216146	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	5737462	27216146	170806284	97	15225											
NEK10	152110	broad.mit.edu	37	chr3	27233635	27233635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcttttccaaggacaactggGatgtagataagttgtctaaa	13	13	9	6	0	2	1	0	0	2	1	3	3	3	3	1	2	1	2	1	2	6	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:27233635G>C	ENST00000429845.2	-	27	2752	c.2390C>G	c.(2389-2391)tCc>tGc	p.S797C	NEK10_ENST00000383770.3_Missense_Mutation_p.S109C|NEK10_ENST00000295720.6_Missense_Mutation_p.S109C|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383771.4_Missense_Mutation_p.S109C|NEK10_ENST00000357467.2_Missense_Mutation_p.S194C			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	797							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGACAACTGGGATGTAGATAA	0.448													32	73					0	0	0	0	C	27233635	G	C	27233635	3	2	80	1	0	0	0	0	1	0	0	0	10392	1189	41	2		2	NEK10	3	27233635	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	17489	27233635	170788795	98	15226											
SCN11A	11280	broad.mit.edu	37	chr3	38921582	38921582	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttagtaattcttggattttGggttggttctcaaggtgaac	8	18	11	4	0	2	1	1	1	2	0	3	2	2	2	0	4	1	3	0	4	4	9			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:38921582G>T	ENST00000450244.1	-	19	3450	c.3252C>A	c.(3250-3252)ccC>ccA	p.P1084P	SCN11A_ENST00000456224.3_Silent_p.P1046P|SCN11A_ENST00000444237.2_Silent_p.P1084P|SCN11A_ENST00000302328.3_Silent_p.P1084P			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1084					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P1084P(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTGGATTTTGGGTTGGTTCT	0.338													13	32					1.36491e-13	1.82786e-13	1	0	T	38921582	G	T	38921582	2	4	80	1	0	0	0	0	0	0	0	1	14000	1335	47	4		4	SCN11A	3	38921582	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	11687947	38921582	159100848	99	15227											
TRAK1	22906	broad.mit.edu	37	chr3	42132991	42132991	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcaattcgggcagccCgtcagggctcagcctctgcc	5	11	11	14	2	4	0	3	0	1	0	5	0	4	0	3	2	3	3	3	2	1	3	rs144753843	by1000genomes	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:42132991C>G	ENST00000327628.5	+	1	430	c.30C>G	c.(28-30)ccC>ccG	p.P10P	TRAK1_ENST00000487159.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	10					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TCGGGCAGCCCGTCAGGGCTC	0.537													8	40					0	0	0	0	G	42132991	C	G	42132991	2	3	80	1	0	0	0	0	0	0	0	1	16544	639	23	3		3	TRAK1	3	42132991	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	3211409	42132991	155889439	100	15228											
DOCK3	1795	broad.mit.edu	37	chr3	51263131	51263131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagggggatttcgagaGaggaggaaagagtgtacaaa	16	5	18	2	1	0	3	0	0	0	3	1	9	0	6	0	5	1	1	0	5	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:51263131G>T	ENST00000266037.9	+	15	1327	c.1304G>T	c.(1303-1305)aGa>aTa	p.R435I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	435	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GATTTCGAGAGAGGAGGAAAG	0.463													44	74					7.53189e-24	1.16541e-23	1	0	T	51263131	G	T	51263131	3	4	80	1	0	0	0	0	1	0	0	0	4724	942	33	2	1362	2	DOCK3	3	51263131	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	9130140	51263131	146759299	101	15229											
GLT8D1	55830	broad.mit.edu	37	chr3	52734476	52734476	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacctttacggaatgacaTctttttcttctgtcatataa	11	17	4	9	1	4	1	1	1	3	0	4	2	4	2	1	1	2	0	1	1	5	8			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:52734476T>A	ENST00000407584.3	-	3	851	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	GLT8D1_ENST00000266014.5_Start_Codon_SNP_p.M1L|GLT8D1_ENST00000491606.1_Start_Codon_SNP_p.M1L|GLT8D1_ENST00000478968.2_Start_Codon_SNP_p.M1L|GLT8D1_ENST00000394783.3_Start_Codon_SNP_p.M1L	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	1						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGGAATGACATCTTTTTCTTC	0.338													5	115					0	0	0	0	A	52734476	T	A	52734476	1	1	80	1	0	0	0	0	0	0	0	0	6520	1435	50	5		5	GLT8D1	3	52734476	Translation_Start_Site	SNP	T	TCGA-CN-5360-01A-01D-1434-08	1471345	52734476	145287954	102	15230											
SFMBT1	51460	broad.mit.edu	37	chr3	52977588	52977588	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcccaggagcaaatcCattttgcaaacgtgtgtcca	11	11	7	12	1	1	0	1	0	0	0	4	1	4	1	3	1	3	2	3	1	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:52977588C>A	ENST00000394752.3	-	4	527	c.145G>T	c.(145-147)Gga>Tga	p.G49*	SFMBT1_ENST00000394750.1_Nonsense_Mutation_p.G49*|SFMBT1_ENST00000358080.2_Nonsense_Mutation_p.G49*|SFMBT1_ENST00000296295.6_Nonsense_Mutation_p.G49*	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	49					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GGAGCAAATCCATTTTGCAAA	0.433													33	85					1.22384e-17	1.73356e-17	1	0	A	52977588	C	A	52977588	4	1	80	1	0	0	0	0	0	1	0	0	14244	603	21	4	2527	4	SFMBT1	3	52977588	Nonsense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	243112	52977588	145044842	103	15231											
DNAH12	201625	broad.mit.edu	37	chr3	57496556	57496556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttttcaaagtcacttgacaCctcatttatgagactttcaa	12	15	5	9	0	4	2	4	2	0	1	4	3	4	2	1	0	0	1	1	0	3	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:57496556C>T	ENST00000351747.2	-	5	610	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	DNAH12_ENST00000389536.4_Missense_Mutation_p.V144M|DNAH12_ENST00000311202.6_Missense_Mutation_p.V144M	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	144	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCACTTGACACCTCATTTATG	0.438													17	52					0	0	0	0	T	57496556	C	T	57496556	3	4	80	1	0	0	0	0	1	0	0	0	4637	507	18	4	9111	4	DNAH12	3	57496556	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	4518968	57496556	140525874	104	15232											
OR5H14	403273	broad.mit.edu	37	chr3	97868307	97868307	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaccacagtggaaaataccCctgttcctggcattcttggt	10	11	8	12	0	1	0	0	0	1	0	2	1	2	1	4	3	2	2	4	3	4	4	rs146669592		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:97868307C>A	ENST00000437310.1	+	1	138	c.78C>A	c.(76-78)ccC>ccA	p.P26P		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.(=)(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAAAATACCCCTGTTCCTGG	0.418													162	224					1.8242e-84	3.07163e-84	1	0	A	97868307	C	A	97868307	2	1	80	1	0	0	0	0	0	0	0	1	11231	610	22	4		4	OR5H14	3	97868307	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	40371751	97868307	100154123	105	15233											
OR5H15	403274	broad.mit.edu	37	chr3	97887742	97887742	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttactccttgggaatttaGcttttgtggatgcttggata	8	17	10	6	0	0	0	0	0	0	0	1	3	1	3	1	3	3	2	1	3	4	8			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:97887742G>C	ENST00000356526.2	+	1	199	c.199G>C	c.(199-201)Gct>Cct	p.A67P		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGGGAATTTAGCTTTTGTGGA	0.403													64	247					0	0	0	0	C	97887742	G	C	97887742	3	2	80	1	0	0	0	0	1	0	0	0	11232	971	34	4	201	4	OR5H15	3	97887742	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	19435	97887742	100134688	106	15234											
COL8A1	1295	broad.mit.edu	37	chr3	99509677	99509677	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccaccacaaattccacaaTaccagcccctgggtcagcaa	13	6	6	16	0	1	0	1	0	0	0	2	0	2	0	6	1	4	1	6	1	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:99509677T>C	ENST00000261037.3	+	4	531	c.151T>C	c.(151-153)Tac>Cac	p.Y51H	COL8A1_ENST00000273342.4_Missense_Mutation_p.Y51H	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	51	Nonhelical region (NC2).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AATTCCACAATACCAGCCCCT	0.537													19	74					0	0	0	0	C	99509677	T	C	99509677	3	2	80	1	0	0	0	0	1	0	0	0	3735	1406	49	5	153	5	COL8A1	3	99509677	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	1621935	99509677	98512753	107	15235											
TRAT1	50852	broad.mit.edu	37	chr3	108557809	108557809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagctactccagtgaccaCaccaggtatgttgtgattca	11	11	8	11	0	1	2	1	2	0	0	2	2	2	2	3	1	3	3	3	1	3	5	rs150919761		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:108557809C>A	ENST00000295756.6	+	3	377	c.147C>A	c.(145-147)caC>caA	p.H49Q	TRAT1_ENST00000426646.1_Missense_Mutation_p.H12Q|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	49					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CCAGTGACCACACCAGGTATG	0.318													18	119					6.33239e-15	8.63165e-15	1	0	A	108557809	C	A	108557809	3	1	80	1	0	0	0	0	1	0	0	0	16561	477	17	4	157	4	TRAT1	3	108557809	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	9048132	108557809	89464621	108	15236											
MORC1	27136	broad.mit.edu	37	chr3	108822766	108822766	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtttttcattatccacTgtaagagaaagcagttatta	13	15	7	6	0	1	1	1	0	0	1	2	2	2	1	1	0	2	5	1	0	5	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:108822766T>A	ENST00000232603.5	-	4	237		c.e4-2		MORC1_ENST00000483760.1_Splice_Site|MORC1-AS1_ENST00000480826.1_RNA	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1						cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CATTATCCACTGTAAGAGAAA	0.398													45	133					0	0	0	0	A	108822766	T	A	108822766	5	1	80	1	0	0	0	0	0	0	1	0	9771	1594	55	5	2901	5	MORC1	3	108822766	Splice_Site	SNP	T	TCGA-CN-5360-01A-01D-1434-08	264957	108822766	89199664	109	15237											
DPPA4	55211	broad.mit.edu	37	chr3	109050622	109050622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacacaggcgcttatatgCatccaatttctaagacaata	14	10	7	10	1	1	1	0	0	1	1	2	1	2	1	1	2	1	3	1	2	6	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:109050622C>T	ENST00000335658.6	-	4	403	c.349G>A	c.(349-351)Gca>Aca	p.A117T	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	117						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CGCTTATATGCATCCAATTTC	0.448													30	158					0	0	0	0	T	109050622	C	T	109050622	3	4	80	1	0	0	0	0	1	0	0	0	4772	710	25	4	581	4	DPPA4	3	109050622	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	227856	109050622	88971808	110	15238											
SLC35A5	55032	broad.mit.edu	37	chr3	112299779	112299779	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catacagaacagcaaactctAtttctttggcattctgttta	12	15	5	9	0	3	1	0	0	3	1	3	1	3	1	0	1	4	3	0	1	5	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:112299779A>G	ENST00000492406.1	+	6	1098	c.815A>G	c.(814-816)tAt>tGt	p.Y272C	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	272						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						AGCAAACTCTATTTCTTTGGC	0.388													24	93					0	0	0	0	G	112299779	A	G	112299779	3	3	80	1	0	0	0	0	1	0	0	0	14662	449	16	5	833	5	SLC35A5	3	112299779	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	3249157	112299779	85722651	111	15239											
KIAA2018	205717	broad.mit.edu	37	chr3	113375785	113375785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggttccgactagttgaagGgttttcacagctcttctctg	7	15	10	9	1	3	1	1	1	2	0	5	2	4	1	1	2	1	4	1	2	2	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:113375785G>A	ENST00000316407.4	-	7	5154	c.4744C>T	c.(4744-4746)Cct>Tct	p.P1582S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1582S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1582	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTAGTTGAAGGGTTTTCACAG	0.498													43	73					0	0	0	0	A	113375785	G	A	113375785	3	1	80	1	0	0	0	0	1	0	0	0	8319	1232	43	4	1997	4	KIAA2018	3	113375785	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1076006	113375785	84646645	112	15240											
ZNF80	7634	broad.mit.edu	37	chr3	113955434	113955434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtttttccacattctttgCacccaaagagtttttctcca	9	16	5	11	0	2	1	0	0	2	1	4	1	3	1	3	1	1	3	3	1	1	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:113955434C>A	ENST00000482457.2	-	1	991	c.488G>T	c.(487-489)tGc>tTc	p.C163F		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	163						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACATTCTTTGCACCCAAAGAG	0.488													32	190					4.65686e-17	6.52911e-17	1	0	A	113955434	C	A	113955434	3	1	80	1	0	0	0	0	1	0	0	0	18261	710	25	4	337	4	ZNF80	3	113955434	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	579649	113955434	84066996	113	15241											
ADPRH	141	broad.mit.edu	37	chr3	119305452	119305452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagctaaaaagtacattGtccaatcaggctactttgta	15	11	7	8	0	1	1	1	0	0	1	2	1	2	1	1	1	3	4	1	1	8	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:119305452G>T	ENST00000478399.1	+	3	2024	c.619G>T	c.(619-621)Gtc>Ttc	p.V207F	ADPRH_ENST00000478927.1_Missense_Mutation_p.V207F|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.V207F|ADPRH_ENST00000357003.3_Missense_Mutation_p.V207F			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	207					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AAAGTACATTGTCCAATCAGG	0.483													36	121					6.02846e-25	9.43405e-25	1	0	T	119305452	G	T	119305452	3	4	80	1	0	0	0	0	1	0	0	0	331	1377	48	4	625	4	ADPRH	3	119305452	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	5350018	119305452	78716978	114	15242											
GOLGB1	2804	broad.mit.edu	37	chr3	121413755	121413755	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaggtatttttctcatttTctaaagtctggctaaattcc	10	18	6	7	0	3	0	1	0	3	0	5	0	4	0	1	2	0	3	1	2	6	9			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:121413755T>G	ENST00000393667.3	-	13	5725	c.5615A>C	c.(5614-5616)gAa>gCa	p.E1872A	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E1867A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1867					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTCTCATTTTCTAAAGTCTG	0.353													87	340					0	0	0	0	G	121413755	T	G	121413755	3	3	80	1	0	0	0	0	1	0	0	0	6613	1783	62	5	4219	5	GOLGB1	3	121413755	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	2108303	121413755	76608675	115	15243											
PARP9	83666	broad.mit.edu	37	chr3	122247277	122247277	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagggtctcattggtccTgatgagtaatcttgtgactg	9	13	12	7	0	2	3	1	3	2	0	4	3	3	3	1	2	0	2	1	2	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:122247277T>C	ENST00000360356.2	-	11	2726	c.2499A>G	c.(2497-2499)tcA>tcG	p.S833S	PARP9_ENST00000477522.2_Silent_p.S798S|PARP9_ENST00000492382.1_Silent_p.S378S|PARP9_ENST00000471785.1_Silent_p.S798S	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	833	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCATTGGTCCTGATGAGTAAT	0.453													35	136					0	0	0	0	C	122247277	T	C	122247277	2	2	80	1	0	0	0	0	0	0	0	1	11537	1567	55	5		5	PARP9	3	122247277	Silent	SNP	T	TCGA-CN-5360-01A-01D-1434-08	833522	122247277	75775153	116	15244											
SLC12A8	84561	broad.mit.edu	37	chr3	124802771	124802771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgctcccggttcacgaggGaggagtggtggtagcgatcc	6	8	17	10	3	1	0	1	0	0	0	3	4	3	2	2	5	2	4	2	5	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:124802771G>T	ENST00000423114.2	-	14	2194	c.2195C>A	c.(2194-2196)tCc>tAc	p.S732Y	SLC12A8_ENST00000469902.1_Missense_Mutation_p.S703Y|SLC12A8_ENST00000430155.2_Missense_Mutation_p.S504Y|SLC12A8_ENST00000393469.4_Missense_Mutation_p.S703Y|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Missense_Mutation_p.S364Y			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	703					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GTTCACGAGGGAGGAGTGGTG	0.572													4	32					0.00909568	0.00931257	1	0	T	124802771	G	T	124802771	3	4	80	1	0	0	0	0	1	0	0	0	14477	1174	41	2	40	2	SLC12A8	3	124802771	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2555494	124802771	73219659	117	15245											
CHST13	166012	broad.mit.edu	37	chr3	126255138	126255138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaaacagagccctgggctCcagctggcttggtggggaga	8	7	17	9	0	0	2	0	0	0	2	1	4	1	3	2	6	3	3	2	6	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:126255138C>A	ENST00000319340.2	+	2	172	c.122C>A	c.(121-123)tCc>tAc	p.S41Y		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	41					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCCCTGGGCTCCAGCTGGCTT	0.592													21	122					2.27525e-19	3.35429e-19	1	0	A	126255138	C	A	126255138	3	1	80	1	0	0	0	0	1	0	0	0	3430	855	30	2	128	2	CHST13	3	126255138	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1452367	126255138	71767292	118	15246											
EPHB1	2047	broad.mit.edu	37	chr3	134825427	134825427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accgagcggactttgaccctCcagaagtggcatgcactagt	10	8	11	12	2	0	2	0	1	0	1	1	4	1	3	3	2	2	2	3	2	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:134825427C>A	ENST00000398015.3	+	4	1313	c.943C>A	c.(943-945)Cca>Aca	p.P315T	EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	315	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTTTGACCCTCCAGAAGTGGC	0.587													17	57					5.3912e-06	5.92601e-06	1	0	A	134825427	C	A	134825427	3	1	80	1	0	0	0	0	1	0	0	0	5212	855	30	2	957	2	EPHB1	3	134825427	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	8570289	134825427	63197003	119	15247											
STAG1	10274	broad.mit.edu	37	chr3	136192475	136192475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacacttcagcctgacttccCcttgcttcagaaatacaaat	13	11	4	13	0	2	2	2	1	0	1	3	2	3	2	3	0	4	1	3	0	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:136192475C>A	ENST00000383202.2	-	11	1287	c.1031G>T	c.(1030-1032)gGg>gTg	p.G344V	STAG1_ENST00000434713.2_Missense_Mutation_p.G118V|STAG1_ENST00000236698.5_Missense_Mutation_p.G344V	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	344	SCD.				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CCTGACTTCCCCTTGCTTCAG	0.348													10	88					2.80697e-09	3.38314e-09	1	0	A	136192475	C	A	136192475	3	1	80	1	0	0	0	0	1	0	0	0	15332	623	22	4	2841	4	STAG1	3	136192475	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1367048	136192475	61829955	120	15248											
CEP70	80321	broad.mit.edu	37	chr3	138289944	138289944	+	Frame_Shift_Del	DEL	C	C	-																															catgatgtttcttccaccaaCaatttcaaattctgtctcat																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:138289944delC	ENST00000264982.3	-	5	482	c.216delG	c.(214-216)ttfs	p.L73fs	CEP70_ENST00000464035.1_Frame_Shift_Del_p.L73fs|CEP70_ENST00000542237.1_Frame_Shift_Del_p.L53fs|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000484888.1_Frame_Shift_Del_p.L73fs|CEP70_ENST00000481834.1_Frame_Shift_Del_p.L73fs|CEP70_ENST00000478673.1_5'UTR	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	73					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTTCCACCAACAATTTCAAAT	0.303													9	75	---	---	---	---					-	138289944	C	-	138289944	7	5	80	1	0	1	0	1	0	0	0	0	3288	477	17	0	1633	0	CEP70	3	138289944	Frame_Shift_Del	DEL	C	TCGA-CN-5360-01A-01D-1434-08	2097469	138289944	59732486	121	15249											
CLSTN2	64084	broad.mit.edu	37	chr3	140281733	140281733	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccggcttcccttgaggccCggcgtttccggattaagtgc	4	11	13	13	4	0	1	0	1	0	0	3	2	3	2	4	4	1	2	4	4	1	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:140281733C>A	ENST00000458420.3	+	14	2483	c.2293C>A	c.(2293-2295)Cgg>Agg	p.R765R		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	765			R -> Q (in a colorectal cancer sample; somatic mutation).		homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTTGAGGCCCGGCGTTTCCG	0.572										HNSCC(16;0.037)			11	72					3.86212e-05	4.15874e-05	1	0	A	140281733	C	A	140281733	2	1	80	1	0	0	0	0	0	0	0	1	3592	643	23	3		3	CLSTN2	3	140281733	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1991789	140281733	57740697	122	15250											
TRPC1	7220	broad.mit.edu	37	chr3	142522827	142522827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtctttacaggttcattgGcacctgctttgctttgttct	4	20	8	9	0	3	0	1	0	2	0	3	0	3	0	1	2	3	5	1	2	1	8			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:142522827G>T	ENST00000273482.6	+	10	2055	c.1664G>T	c.(1663-1665)gGc>gTc	p.G555V	TRPC1_ENST00000476941.1_Missense_Mutation_p.G589V	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	589					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AGGTTCATTGGCACCTGCTTT	0.328													22	108					1.10923e-09	1.36322e-09	1	0	T	142522827	G	T	142522827	3	4	80	1	0	0	0	0	1	0	0	0	16673	1203	42	4	1702	4	TRPC1	3	142522827	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2241094	142522827	55499603	123	15251											
PLOD2	5352	broad.mit.edu	37	chr3	145799596	145799596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcaggactcaatgctccCcagaaattggaccacagctt	12	8	7	14	0	2	1	2	0	0	1	3	3	3	3	4	2	2	2	4	2	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:145799596C>A	ENST00000282903.5	-	12	1464	c.1287G>T	c.(1285-1287)tgG>tgT	p.W429C	PLOD2_ENST00000494950.1_Missense_Mutation_p.W374C|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.W89C|PLOD2_ENST00000360060.3_Missense_Mutation_p.W429C	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	429					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCAATGCTCCCCAGAAATTGG	0.378													15	106					2.32078e-09	2.81692e-09	1	0	A	145799596	C	A	145799596	3	1	80	1	0	0	0	0	1	0	0	0	12174	624	22	4	1025	4	PLOD2	3	145799596	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	3276769	145799596	52222834	124	15252											
PLSCR5	389158	broad.mit.edu	37	chr3	146307593	146307593	+	Frame_Shift_Del	DEL	G	G	-																															attgtaagcttttcattaatGgttttcacctttagaaagaa																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:146307593delG	ENST00000443512.1	-	6	1627	c.624delC	c.(622-624)acfs	p.T208fs	PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000482567.1_Frame_Shift_Del_p.T196fs|PLSCR5_ENST00000492200.1_Frame_Shift_Del_p.T208fs	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	208										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TTTCATTAATGGTTTTCACCT	0.318													22	138	---	---	---	---					-	146307593	G	-	146307593	7	5	80	1	0	1	0	1	0	0	0	0	12185	1335	47	0	199	0	PLSCR5	3	146307593	Frame_Shift_Del	DEL	G	TCGA-CN-5360-01A-01D-1434-08	507997	146307593	51714837	125	15253											
ZIC4	84107	broad.mit.edu	37	chr3	147114163	147114163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtccattcaaaggacggctgGgggaggcctggggaggctcc	7	6	18	10	1	1	0	1	0	0	0	3	3	3	3	3	8	0	2	3	8	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:147114163G>T	ENST00000383075.3	-	3	676	c.164C>A	c.(163-165)cCc>cAc	p.P55H	ZIC4_ENST00000425731.3_Missense_Mutation_p.P93H|ZIC4_ENST00000484399.1_Missense_Mutation_p.P55H|ZIC4_ENST00000473123.1_Missense_Mutation_p.P55H|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.P105H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	55						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGGACGGCTGGGGGAGGCCTG	0.716													10	38					1.58986e-06	1.77024e-06	1	0	T	147114163	G	T	147114163	3	4	80	1	0	0	0	0	1	0	0	0	17776	1232	43	4	852	4	ZIC4	3	147114163	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	806570	147114163	50908267	126	15254											
ZIC1	7545	broad.mit.edu	37	chr3	147130344	147130344	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagtttgagggctgtgaccGgcgcttcgctaacagcagcg	7	8	15	11	5	0	2	0	2	0	0	1	3	0	2	1	2	3	5	1	2	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:147130344G>C	ENST00000282928.4	+	2	1751	c.1022G>C	c.(1021-1023)cGg>cCg	p.R341P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	341					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCTGTGACCGGCGCTTCGCT	0.532													29	117					0	0	0	0	C	147130344	G	C	147130344	3	2	80	1	0	0	0	0	1	0	0	0	17773	1116	39	3	1028	3	ZIC1	3	147130344	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	16181	147130344	50892086	127	15255											
ZIC1	7545	broad.mit.edu	37	chr3	147131168	147131168	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctcctcgcagggctcgCagccttcgccggccgccagc	5	6	11	19	5	0	0	0	0	0	0	5	0	2	0	6	2	2	3	6	2	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:147131168C>T	ENST00000282928.4	+	3	1903	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	392	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCAGGGCTCGCAGCCTTCGCC	0.622													21	147					0	0	0	0	T	147131168	C	T	147131168	4	4	80	1	0	0	0	0	0	1	0	0	17773	711	25	4	1184	4	ZIC1	3	147131168	Nonsense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	824	147131168	50891262	128	15256											
ZIC1	7545	broad.mit.edu	37	chr3	147131266	147131266	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacaagctccttatcgccCtcctcctccgcagtccacca	8	8	4	21	2	0	0	0	0	0	0	6	0	5	0	8	0	1	2	8	0	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:147131266C>A	ENST00000282928.4	+	3	2001	c.1272C>A	c.(1270-1272)ccC>ccA	p.P424P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	424	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCTTATCGCCCTCCTCCTCCG	0.562													25	163					4.72057e-08	5.49667e-08	1	0	A	147131266	C	A	147131266	2	1	80	1	0	0	0	0	0	0	0	1	17773	668	24	4		4	ZIC1	3	147131266	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	98	147131266	50891164	129	15257											
TSC22D2	9819	broad.mit.edu	37	chr3	150128674	150128674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaacgtgcctgcagccGtgcccgctccaagcgtgcct	6	8	10	17	4	0	0	0	0	0	0	2	0	2	0	6	0	7	2	6	0	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:150128674G>T	ENST00000361875.2	+	1	2553	c.1537G>T	c.(1537-1539)Gtg>Ttg	p.V513L	TSC22D2_ENST00000361136.2_Missense_Mutation_p.V513L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	513							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCCTGCAGCCGTGCCCGCTCC	0.647													8	55					2.17888e-05	2.36475e-05	1	0	T	150128674	G	T	150128674	3	4	80	1	0	0	0	0	1	0	0	0	16703	1145	40	3	1539	3	TSC22D2	3	150128674	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2997408	150128674	47893756	130	15258											
MED12L	116931	broad.mit.edu	37	chr3	151067863	151067863	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatgaatcttcaagtcAtgaatgtaaccagcgcacaa	15	9	8	9	1	4	2	3	2	1	0	4	3	4	3	1	1	2	2	1	1	5	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:151067863A>T	ENST00000474524.1	+	15	2200	c.2162A>T	c.(2161-2163)cAt>cTt	p.H721L	MED12L_ENST00000273432.4_Missense_Mutation_p.H581L|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	721					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTCAAGTCATGAATGTAAC	0.433													100	592					0	0	0	0	T	151067863	A	T	151067863	3	4	80	1	0	0	0	0	1	0	0	0	9498	217	8	5	2220	5	MED12L	3	151067863	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	939189	151067863	46954567	131	15259											
MME	4311	broad.mit.edu	37	chr3	154861232	154861232	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcctttttcttttccgtagGccctttatggtacaacctca	6	18	5	12	1	2	0	1	0	1	0	4	0	4	0	4	2	2	2	4	2	4	9			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:154861232G>T	ENST00000460393.1	+	13	1309	c.1188_splice	c.e13-1	p.A397_splice	MME_ENST00000492661.1_Splice_Site_p.A397_splice|MME_ENST00000493237.1_Splice_Site_p.A397_splice|MME_ENST00000462745.1_Splice_Site_p.A397_splice|MME_ENST00000360490.2_Splice_Site_p.A397_splice	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	397					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTTTCCGTAGGCCCTTTATGG	0.418													29	219					1.75199e-13	2.33711e-13	1	0	T	154861232	G	T	154861232	5	4	80	1	0	0	0	0	0	0	1	0	9714	1217	42	4	1235	4	MME	3	154861232	Splice_Site	SNP	G	TCGA-CN-5360-01A-01D-1434-08	3793369	154861232	43161198	132	15260											
IL12A	3592	broad.mit.edu	37	chr3	159711264	159711264	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttgcctaaattccagagaGacctctttcataactgtaag	13	12	7	9	0	2	2	1	0	1	2	3	3	3	2	3	0	2	2	3	0	4	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:159711264G>A	ENST00000305579.2	+	4	712	c.405G>A	c.(403-405)gaG>gaA	p.E135E	IL12A_ENST00000480787.1_Silent_p.E97E|IL12A_ENST00000466512.1_Intron|CTD-2049J23.2_ENST00000497452.1_RNA	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	101					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATTCCAGAGAGACCTCTTTCA	0.313													10	100					0	0	0	0	A	159711264	G	A	159711264	2	1	80	1	0	0	0	0	0	0	0	1	7677	933	33	2		2	IL12A	3	159711264	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	4850032	159711264	38311166	133	15261											
IFT80	57560	broad.mit.edu	37	chr3	160037641	160037641	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacgacatgtccatttccAcaggctccagcaatctgagt	13	9	7	12	1	1	1	0	1	1	0	4	2	4	1	3	1	2	2	3	1	3	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:160037641A>G	ENST00000326448.7	-	9	1296	c.864T>C	c.(862-864)tgT>tgC	p.C288C	RP11-432B6.3_ENST00000483754.1_Silent_p.C459C|IFT80_ENST00000483465.1_Silent_p.C151C|IFT80_ENST00000496589.1_Silent_p.C151C	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	288						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTCCATTTCCACAGGCTCCAG	0.408													45	145					0	0	0	0	G	160037641	A	G	160037641	2	3	80	1	0	0	0	0	0	0	0	1	7617	157	6	5		5	IFT80	3	160037641	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08	326377	160037641	37984789	134	15262											
SI	6476	broad.mit.edu	37	chr3	164786974	164786974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagcagcctctctgtgCacaaattccctgataaaata	13	9	6	13	0	1	1	0	1	1	0	3	1	2	1	3	0	4	3	3	0	4	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:164786974C>A	ENST00000264382.3	-	4	327	c.265G>T	c.(265-267)Gca>Tca	p.A89S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	89	P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.A89S(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCTCTCTGTGCACAAATTCCC	0.353										HNSCC(35;0.089)			10	48					0.0383953	0.0390201	1	0	A	164786974	C	A	164786974	3	1	80	1	0	0	0	0	1	0	0	0	14385	710	25	4	5398	4	SI	3	164786974	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	4749333	164786974	33235456	135	15263											
SLITRK3	22865	broad.mit.edu	37	chr3	164906635	164906635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactgctgagaaaaacagaaCcagcaggctgagaattaaca	18	5	10	8	0	0	3	0	2	0	3	0	6	0	3	1	1	5	3	1	1	5	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:164906635C>A	ENST00000475390.1	-	2	2427	c.1984G>T	c.(1984-1986)Gtt>Ttt	p.V662F	SLITRK3_ENST00000241274.3_Missense_Mutation_p.V662F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	662						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAAAACAGAACCAGCAGGCTG	0.527										HNSCC(40;0.11)			15	52					1.3612e-06	1.52056e-06	1	0	A	164906635	C	A	164906635	3	1	80	1	0	0	0	0	1	0	0	0	14832	507	18	4	953	4	SLITRK3	3	164906635	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	119661	164906635	33115795	136	15264											
WDR49	151790	broad.mit.edu	37	chr3	167272580	167272580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgacaatatccattgaagtCccatatctttaagagaaaaa	17	11	6	7	0	1	3	0	2	1	1	3	4	3	3	2	0	0	0	2	0	7	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:167272580C>T	ENST00000308378.3	-	6	963	c.658G>A	c.(658-660)Gac>Aac	p.D220N	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.D45N|WDR49_ENST00000453925.2_Missense_Mutation_p.D273N	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	220										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CCATTGAAGTCCCATATCTTT	0.323													56	219					0	0	0	0	T	167272580	C	T	167272580	3	4	80	1	0	0	0	0	1	0	0	0	17398	855	30	2	1475	2	WDR49	3	167272580	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2365945	167272580	30749850	137	15265											
WDR49	151790	broad.mit.edu	37	chr3	167322199	167322199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccaagccatcaccacaCtatttgtattgctggttgta	9	14	6	12	0	2	0	1	0	1	0	3	0	2	0	3	1	2	4	3	1	4	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:167322199C>A	ENST00000453925.2	-	2	186	c.152G>T	c.(151-153)aGt>aTt	p.S51I	WDR49_ENST00000479765.1_Missense_Mutation_p.S339I|WDR49_ENST00000308378.3_5'UTR			Q8IV35	WDR49_HUMAN	WD repeat domain 49	173										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATCACCACACTATTTGTATT	0.358													17	104					8.60227e-14	1.15651e-13	1	0	A	167322199	C	A	167322199	3	1	80	1	0	0	0	0	1	0	0	0	17398	580	20	4		4	WDR49	3	167322199	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	49619	167322199	30700231	138	15266											
SAMD7	344658	broad.mit.edu	37	chr3	169639112	169639112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggcaaatgtgttgtccaGtcggatctacccaggtatga	10	12	11	8	1	1	1	0	1	1	0	3	2	2	2	2	3	1	3	2	3	4	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:169639112G>A	ENST00000428432.2	+	4	586	c.197G>A	c.(196-198)aGt>aAt	p.S66N	SAMD7_ENST00000335556.3_Missense_Mutation_p.S66N	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	66										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GTGTTGTCCAGTCGGATCTAC	0.438													35	185					0	0	0	0	A	169639112	G	A	169639112	3	1	80	1	0	0	0	0	1	0	0	0	13909	1029	36	4	203	4	SAMD7	3	169639112	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2316913	169639112	28383318	139	15267											
FNDC3B	64778	broad.mit.edu	37	chr3	172046816	172046816	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttgacaaagctttgtccGgcaatggggtacacattcag	12	10	11	8	1	1	1	1	1	0	0	2	1	2	1	1	3	2	4	1	3	4	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:172046816G>T	ENST00000336824.4	+	12	1428	c.1329G>T	c.(1327-1329)ccG>ccT	p.P443P	FNDC3B_ENST00000416957.1_Silent_p.P443P|FNDC3B_ENST00000415807.2_Silent_p.P443P	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	443	Fibronectin type-III 2.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGCTTTGTCCGGCAATGGGGT	0.473													29	164					2.47511e-08	2.91164e-08	1	0	T	172046816	G	T	172046816	2	4	80	1	0	0	0	0	0	0	0	1	6015	1103	39	3		3	FNDC3B	3	172046816	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2407704	172046816	25975614	140	15268											
PIK3CA	5290	broad.mit.edu	37	chr3	178948139	178948139	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtaaaggagcccaagaaTgcacaaagacaagagaattt	19	7	9	6	0	0	3	0	0	0	3	0	5	0	4	1	1	2	2	1	1	8	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:178948139T>C	ENST00000263967.3	+	20	3068	c.2911T>C	c.(2911-2913)Tgc>Cgc	p.C971R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	971	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGCCCAAGAATGCACAAAGAC	0.343		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			21	124					0	0	0	0	C	178948139	T	C	178948139	3	2	80	1	0	0	0	0	1	0	0	0	11985	1464	51	5	2985	5	PIK3CA	3	178948139	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	6901323	178948139	19074291	141	15269											
TTC14	151613	broad.mit.edu	37	chr3	180319919	180319919	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacacttccgggtgtaactgGttgtgctgtctgtgtacttc	6	15	11	9	1	1	0	0	0	1	0	3	0	2	0	1	2	4	4	1	2	3	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:180319919G>A	ENST00000296015.4	+	0	2					NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14								RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GGTGTAACTGGTTGTGCTGTC	0.622													7	14					0	0	0	0	A	180319919	G	A	180319919	1	1	80	1	0	0	0	0	0	0	0	0	16777	1275	44	4		4	TTC14	3	180319919	Translation_Start_Site	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1371780	180319919	17702511	142	15270											
TTC14	151613	broad.mit.edu	37	chr3	180321002	180321002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttccgagatattgagcgtgGtgatatagtgattggaagaa	12	13	13	3	2	0	5	0	3	0	2	1	7	1	6	1	2	1	0	1	2	5	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:180321002G>T	ENST00000412756.2	+	3	446	c.377G>T	c.(376-378)gGt>gTt	p.G126V	TTC14_ENST00000382584.4_Missense_Mutation_p.G126V|TTC14_ENST00000296015.4_Missense_Mutation_p.G126V	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	126	S1 motif.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTGAGCGTGGTGATATAGTG	0.378													43	245					4.67007e-22	7.06682e-22	1	0	T	180321002	G	T	180321002	3	4	80	1	0	0	0	0	1	0	0	0	16777	1261	44	4	387	4	TTC14	3	180321002	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1083	180321002	17701428	143	15271											
B3GNT5	84002	broad.mit.edu	37	chr3	182987805	182987805	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctcagcggggcctcgctaCcaatacttgattaaccacaa	12	8	7	14	2	1	1	1	1	0	0	2	1	1	1	4	2	4	1	4	2	5	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:182987805C>T	ENST00000326505.3	+	2	749	c.219C>T	c.(217-219)taC>taT	p.Y73Y	MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Silent_p.Y73Y|B3GNT5_ENST00000460419.1_Silent_p.Y73Y|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	73					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGCCTCGCTACCAATACTTGA	0.418													39	159					0	0	0	0	T	182987805	C	T	182987805	2	4	80	1	0	0	0	0	0	0	0	1	1264	518	18	4		4	B3GNT5	3	182987805	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2666803	182987805	15034625	144	15272											
HTR3E	285242	broad.mit.edu	37	chr3	183824076	183824076	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccggggagatgctgtccCactgcgccccagaaggaaaa	11	4	13	13	2	0	2	0	0	0	2	1	4	1	3	4	3	3	1	4	3	3	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:183824076C>A	ENST00000415389.2	+	8	1552	c.1086C>A	c.(1084-1086)ccC>ccA	p.P362P	HTR3E_ENST00000425359.2_Silent_p.P347P|HTR3E_ENST00000335304.2_Silent_p.P377P|HTR3E_ENST00000436361.2_Silent_p.P362P|HTR3E_ENST00000440596.2_Silent_p.P388P	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	362						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GATGCTGTCCCACTGCGCCCC	0.662													12	60					0.000978159	0.00102752	1	0	A	183824076	C	A	183824076	2	1	80	1	0	0	0	0	0	0	0	1	7501	581	21	4		4	HTR3E	3	183824076	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	836271	183824076	14198354	145	15273											
TBCCD1	55171	broad.mit.edu	37	chr3	186272075	186272075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctccttcacagttttctgCcagatctgtatcttctgttc	5	17	6	13	0	5	1	1	0	4	1	7	1	6	1	3	0	1	3	3	0	1	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:186272075C>A	ENST00000424280.1	-	6	1991	c.1512G>T	c.(1510-1512)tgG>tgT	p.W504C	TBCCD1_ENST00000479590.1_5'UTR|TBCCD1_ENST00000446782.1_Missense_Mutation_p.W408C|TBCCD1_ENST00000338733.5_Missense_Mutation_p.W504C	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	504					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CAGTTTTCTGCCAGATCTGTA	0.408													45	246					1.41504e-22	2.1651e-22	1	0	A	186272075	C	A	186272075	3	1	80	1	0	0	0	0	1	0	0	0	15726	740	26	4	169	4	TBCCD1	3	186272075	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2447999	186272075	11750355	146	15274											
ATP13A3	79572	broad.mit.edu	37	chr3	194149640	194149640	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggaagtctcctaggttacTtaagatctacagaagtaatt	13	13	8	7	0	2	2	0	0	2	2	3	3	2	3	1	2	2	2	1	2	7	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:194149640T>G	ENST00000439040.1	-	28	3672	c.2881A>C	c.(2881-2883)Agt>Cgt	p.S961R	ATP13A3_ENST00000256031.4_Missense_Mutation_p.S961R			Q9H7F0	AT133_HUMAN	ATPase type 13A3	961					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CCTAGGTTACTTAAGATCTAC	0.294													16	66					0	0	0	0	G	194149640	T	G	194149640	3	3	80	1	0	0	0	0	1	0	0	0	1129	1609	56	5	823	5	ATP13A3	3	194149640	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	7877565	194149640	3872790	147	15275											
TMEM44	93109	broad.mit.edu	37	chr3	194336360	194336360	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtgtcagggctctctcTggcttccttggcaaatccta	5	14	11	11	0	3	0	1	0	2	0	6	0	5	0	2	4	0	3	2	4	2	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:194336360T>A	ENST00000392432.2	-	8	1196	c.991A>T	c.(991-993)Aga>Tga	p.R331*	TMEM44_ENST00000273580.7_Nonsense_Mutation_p.R284*|TMEM44_ENST00000381975.3_Nonsense_Mutation_p.R284*|TMEM44_ENST00000473092.1_Nonsense_Mutation_p.R284*|TMEM44_ENST00000347147.4_Nonsense_Mutation_p.R284*	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	331						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		GGGCTCTCTCTGGCTTCCTTG	0.478													104	390					0	0	0	0	A	194336360	T	A	194336360	4	1	80	1	0	0	0	0	0	1	0	0	16262	1588	55	5	486	5	TMEM44	3	194336360	Nonsense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	186720	194336360	3686070	148	15276											
UBXN7	26043	broad.mit.edu	37	chr3	196129879	196129879	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttgaggaattggggcaCgaacttcttctctattaaaa	11	14	9	7	1	2	1	0	1	2	0	3	3	2	2	0	3	1	2	0	3	5	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:196129879C>T	ENST00000535858.1	-	0	112				UBXN7_ENST00000296328.4_Missense_Mutation_p.R78H|UBXN7_ENST00000428095.1_Intron			O94888	UBXN7_HUMAN	UBX domain protein 7								protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AATTGGGGCACGAACTTCTTC	0.318													56	373					0	0	0	0	T	196129879	C	T	196129879	1	4	80	1	0	0	0	0	0	0	0	0	17014	536	19	1		1	UBXN7	3	196129879	Translation_Start_Site	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1793519	196129879	1892551	149	15277											
IQCG	84223	broad.mit.edu	37	chr3	197665493	197665493	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttttgaagacaagatcCtgcattttgttaaactccac	11	15	7	8	0	0	3	0	1	0	2	2	3	2	3	2	1	2	3	2	1	4	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:197665493C>T	ENST00000265239.6	-	5	865	c.441G>A	c.(439-441)caG>caA	p.Q147Q	IQCG_ENST00000455191.1_Silent_p.Q147Q|IQCG_ENST00000453254.1_Silent_p.Q147Q	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	147										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		AGACAAGATCCTGCATTTTGT	0.433													120	654					0	0	0	0	T	197665493	C	T	197665493	2	4	80	1	0	0	0	0	0	0	0	1	7863	680	24	4		4	IQCG	3	197665493	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1535614	197665493	356937	150	15278											
ZNF595	152687	broad.mit.edu	37	chr4	59410	59410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcagaatttgtatagaGatgtgatgttggagaactac	13	11	11	6	0	0	4	0	1	0	3	0	6	0	4	1	1	3	3	1	1	5	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:59410G>T	ENST00000509152.2	+	2	276	c.91G>T	c.(91-93)Gat>Tat	p.D31Y	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.D31Y					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TTTGTATAGAGATGTGATGTT	0.423													37	831					5.71845e-15	7.81029e-15	1	0	T	59410	G	T	59410	3	4	80	1	0	0	0	0	1	0	0	0	18120	942	33	2	97	2	ZNF595	4	59410	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08		59410	191094866	151	15279											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306180	2306180	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggcacttgtcggaagtGggggctttgggctcccgccc	4	8	17	12	2	0	0	0	0	0	0	2	1	1	1	2	6	0	4	2	6	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:2306180G>T	ENST00000290974.2	-	8	2226	c.1887C>A	c.(1885-1887)ccC>ccA	p.P629P	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.P599P|ZFYVE28_ENST00000515312.1_Silent_p.P559P	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	629					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TGTCGGAAGTGGGGGCTTTGG	0.667													36	71					6.04917e-29	9.68714e-29	1	0	T	2306180	G	T	2306180	2	4	80	1	0	0	0	0	0	0	0	1	17765	1335	47	4		4	ZFYVE28	4	2306180	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2246770	2306180	188848096	152	15280											
YIPF7	285525	broad.mit.edu	37	chr4	44626780	44626780	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactcatgccatacacataaCcaaactgaacttttcctgcc	13	10	3	15	0	1	1	1	1	0	0	2	1	2	1	4	0	6	0	4	0	4	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:44626780C>G	ENST00000332990.5	-	5	534	c.518G>C	c.(517-519)gGt>gCt	p.G173A		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	173						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ATACACATAACCAAACTGAAC	0.478													4	3					0	0	0	0	G	44626780	C	G	44626780	3	3	80	1	0	0	0	0	1	0	0	0	17579	507	18	4	332	4	YIPF7	4	44626780	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	42320600	44626780	146527496	153	15281											
NFXL1	152518	broad.mit.edu	37	chr4	47877297	47877297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccttcctcacaatgaaggCattctgggccagcctgaaaa	12	8	8	13	0	2	2	1	2	1	0	3	2	3	2	4	2	1	1	4	2	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:47877297C>T	ENST00000507489.1	-	18	2269	c.2093G>A	c.(2092-2094)tGc>tAc	p.C698Y	NFXL1_ENST00000381538.3_Missense_Mutation_p.C698Y	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	698						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ACAATGAAGGCATTCTGGGCC	0.428													12	75					0	0	0	0	T	47877297	C	T	47877297	3	4	80	1	0	0	0	0	1	0	0	0	10458	710	25	4	666	4	NFXL1	4	47877297	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	3250517	47877297	143276979	154	15282											
SPATA18	132671	broad.mit.edu	37	chr4	52917908	52917908	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagactggtctcaaacgaaaCtttacgaacgttgcaggaaa	16	8	9	8	3	1	1	1	0	1	1	2	4	1	2	0	2	5	2	0	2	6	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:52917908C>G	ENST00000295213.4	+	1	412	c.38C>G	c.(37-39)aCt>aGt	p.T13S	SPATA18_ENST00000419395.2_Missense_Mutation_p.T13S|SPATA18_ENST00000506829.1_3'UTR	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	13					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAAACGAAACTTTACGAACG	0.567													40	236					0	0	0	0	G	52917908	C	G	52917908	3	3	80	1	0	0	0	0	1	0	0	0	15093	565	20	4	40	4	SPATA18	4	52917908	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	5040611	52917908	138236368	155	15283											
KDR	3791	broad.mit.edu	37	chr4	55968085	55968085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctattatgaaaaatgcctCcacttttgcacagccaagaa	14	12	5	10	0	1	2	0	1	1	1	2	2	2	2	3	0	3	1	3	0	6	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:55968085C>T	ENST00000263923.4	-	15	2540	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	749	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AAAAATGCCTCCACTTTTGCA	0.468			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			77	80					0	0	0	0	T	55968085	C	T	55968085	3	4	80	1	0	0	0	0	1	0	0	0	8191	864	30	2	1889	2	KDR	4	55968085	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	3050177	55968085	135186191	156	15284											
PROL1	58503	broad.mit.edu	37	chr4	71275727	71275727	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagttacgacttccaacCaaactatattaagcagccca	15	9	4	13	1	0	0	0	0	0	0	2	1	2	0	4	0	5	2	4	0	7	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:71275727C>T	ENST00000399575.2	+	3	856	c.682C>T	c.(682-684)Caa>Taa	p.Q228*		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	228	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GACTTCCAACCAAACTATATT	0.408													26	68					0	0	0	0	T	71275727	C	T	71275727	4	4	80	1	0	0	0	0	0	1	0	0	12634	595	21	4	688	4	PROL1	4	71275727	Nonsense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	15307642	71275727	119878549	157	15285											
ANKRD17	26057	broad.mit.edu	37	chr4	73968234	73968234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttttttctcttttcgcagCcaaagccagcctccgacttt	6	16	5	14	2	2	0	0	0	2	0	5	1	3	0	4	0	3	1	4	0	1	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:73968234C>T	ENST00000358602.4	-	25	4548	c.4432G>A	c.(4432-4434)Gct>Act	p.A1478T	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1365T|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1227T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1478					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			cttttcGCAGCCAAAGCCAGC	0.348													11	41					0	0	0	0	T	73968234	C	T	73968234	3	4	80	1	0	0	0	0	1	0	0	0	646	739	26	4	3419	4	ANKRD17	4	73968234	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2692507	73968234	117186042	158	15286											
NUP54	53371	broad.mit.edu	37	chr4	77053715	77053715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagctgtttgatctgtgcagGagaaagttctgttctagtca	10	14	11	6	0	4	2	1	1	3	1	4	3	4	2	0	1	2	5	0	1	3	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:77053715G>T	ENST00000264883.3	-	6	1008	c.868C>A	c.(868-870)Cct>Act	p.P290T	NUP54_ENST00000458189.2_Missense_Mutation_p.P110T|NUP54_ENST00000342467.6_Missense_Mutation_p.P110T|NUP54_ENST00000514987.1_Missense_Mutation_p.P242T	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	290	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						ATCTGTGCAGGAGAAAGTTCT	0.383													9	224					1.61879e-10	2.03311e-10	1	0	T	77053715	G	T	77053715	3	4	80	1	0	0	0	0	1	0	0	0	10838	1174	41	2	683	2	NUP54	4	77053715	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	3085481	77053715	114100561	159	15287											
CCDC158	339965	broad.mit.edu	37	chr4	77283402	77283402	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attcaccagcttcaccttttCcagctccaagtcactcactc	9	12	3	17	0	4	0	4	0	0	0	7	0	6	0	4	0	2	2	4	0	1	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:77283402C>A	ENST00000388914.3	-	12	2049	c.1897G>T	c.(1897-1899)Gaa>Taa	p.E633*		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	633										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTCACCTTTTCCAGCTCCAAG	0.408													7	239					0.00448238	0.00465869	1	0	A	77283402	C	A	77283402	4	1	80	1	0	0	0	0	0	1	0	0	2816	864	30	2	1496	2	CCDC158	4	77283402	Nonsense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	229687	77283402	113870874	160	15288											
ANXA3	306	broad.mit.edu	37	chr4	79500196	79500196	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggaactgatgagaaaaTgctcatcagcattctgactg	13	12	9	7	0	3	3	2	3	1	1	3	5	3	4	0	1	3	2	0	1	4	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:79500196T>C	ENST00000264908.6	+	4	498	c.119T>C	c.(118-120)aTg>aCg	p.M40T	ANXA3_ENST00000503570.2_Start_Codon_SNP_p.M1T|ANXA3_ENST00000512884.1_Start_Codon_SNP_p.M1T	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	40					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GATGAGAAAATGCTCATCAGC	0.368													17	30					0	0	0	0	C	79500196	T	C	79500196	3	2	80	1	0	0	0	0	1	0	0	0	718	1464	51	5	129	5	ANXA3	4	79500196	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	2216794	79500196	111654080	161	15289											
WDFY3	23001	broad.mit.edu	37	chr4	85600085	85600085	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttaccaggtttcaatctGctgtaattccgcacctcaat	11	13	6	11	1	3	0	2	0	1	0	4	0	4	0	3	1	2	5	3	1	5	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:85600085G>A	ENST00000322366.6	-	64	10490	c.10083C>T	c.(10081-10083)agC>agT	p.S3361S	WDFY3_ENST00000295888.4_Silent_p.S3378S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3378						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTTTCAATCTGCTGTAATTCC	0.517													40	89					0	0	0	0	A	85600085	G	A	85600085	2	1	80	1	0	0	0	0	0	0	0	1	17366	1310	46	4		4	WDFY3	4	85600085	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	6099889	85600085	105554191	162	15290											
DMP1	1758	broad.mit.edu	37	chr4	88583240	88583240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaggagatgataaagatGacgatgaagatgacagtgga	18	6	15	2	1	0	7	0	4	0	3	0	11	0	9	0	3	0	0	0	3	4	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:88583240G>A	ENST00000339673.6	+	6	409	c.310G>A	c.(310-312)Gac>Aac	p.D104N	DMP1_ENST00000282479.7_Missense_Mutation_p.D88N|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	104					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TGATAAAGATGACGATGAAGA	0.502													8	27					0	0	0	0	A	88583240	G	A	88583240	3	1	80	1	0	0	0	0	1	0	0	0	4620	1290	45	2	328	2	DMP1	4	88583240	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2983155	88583240	102571036	163	15291											
PDHA2	5161	broad.mit.edu	37	chr4	96761292	96761292	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgccatctacagcactcCgtgaagaatatgctggccgc	9	8	10	14	3	1	2	0	1	1	1	2	2	2	2	3	1	4	3	3	1	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:96761292C>A	ENST00000295266.4	+	0	54					NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2						glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TACAGCACTCCGTGAAGAATA	0.622													7	14					1.06961e-07	1.23086e-07	1	0	A	96761292	C	A	96761292	1	1	80	1	0	0	0	0	0	0	0	0	11736	667	23	3		3	PDHA2	4	96761292	Translation_Start_Site	SNP	C	TCGA-CN-5360-01A-01D-1434-08	8178052	96761292	94392984	164	15292											
CENPE	1062	broad.mit.edu	37	chr4	104062227	104062227	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacatctttttttaacgtaAtaagttgatgttcatttgcc	10	19	6	6	1	2	2	1	2	1	0	2	2	2	2	1	0	2	3	1	0	3	9			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:104062227A>G	ENST00000265148.3	-	36	5587	c.5498T>C	c.(5497-5499)aTt>aCt	p.I1833T	CENPE_ENST00000380026.3_Missense_Mutation_p.I1808T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1833					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTTAACGTAATAAGTTGATG	0.279													9	31					0	0	0	0	G	104062227	A	G	104062227	3	3	80	1	0	0	0	0	1	0	0	0	3259	101	4	5	2663	5	CENPE	4	104062227	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	7300935	104062227	87092049	165	15293											
ENPEP	2028	broad.mit.edu	37	chr4	111397696	111397696	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgggcttgaccagatcGtgtgactccagcggggacgg	6	7	17	11	4	0	3	0	2	0	1	2	4	1	4	3	4	1	1	3	4	0	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:111397696G>A	ENST00000265162.5	+	1	468	c.126G>A	c.(124-126)tcG>tcA	p.S42S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	42					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TGACCAGATCGTGTGACTCCA	0.612													9	156					0	0	0	0	A	111397696	G	A	111397696	2	1	80	1	0	0	0	0	0	0	0	1	5166	1132	40	1		1	ENPEP	4	111397696	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	7335469	111397696	79756580	166	15294											
PRDM5	11107	broad.mit.edu	37	chr4	121828688	121828688	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggcattctcttctctcCagcaaagggtccgaactttt	8	14	7	12	1	3	0	1	0	2	0	7	1	5	0	2	2	2	2	2	2	2	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:121828688C>A	ENST00000264808.3	-	2	358	c.118G>T	c.(118-120)Gga>Tga	p.G40*	PRDM5_ENST00000428209.2_Nonsense_Mutation_p.G40*|PRDM5_ENST00000394435.2_Nonsense_Mutation_p.G40*|PRDM5_ENST00000515109.1_Nonsense_Mutation_p.G40*	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	40	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCTTCTCTCCAGCAAAGGGT	0.328													45	114					3.50607e-19	5.12483e-19	1	0	A	121828688	C	A	121828688	4	1	80	1	0	0	0	0	0	1	0	0	12540	603	21	4	1834	4	PRDM5	4	121828688	Nonsense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	10430992	121828688	69325588	167	15295											
TRPC3	7222	broad.mit.edu	37	chr4	122854037	122854037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcatcttgcgcaccactgGgatgttgccgtactcggcgg	6	9	13	13	4	1	0	0	0	1	0	2	1	1	1	2	3	4	4	2	3	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:122854037G>T	ENST00000264811.5	-	1	575	c.157C>A	c.(157-159)Cca>Aca	p.P53T	TRPC3_ENST00000379645.3_Missense_Mutation_p.P126T|TRPC3_ENST00000513531.1_Missense_Mutation_p.P53T	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	41					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CGCACCACTGGGATGTTGCCG	0.647													7	65					0.0381472	0.0388254	1	0	T	122854037	G	T	122854037	3	4	80	1	0	0	0	0	1	0	0	0	16674	1232	43	4	2433	4	TRPC3	4	122854037	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1025349	122854037	68300239	168	15296											
DCHS2	54798	broad.mit.edu	37	chr4	155226280	155226280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacttcttgaatttctctGtcaagtatggtggttgtcac	9	16	9	7	0	4	2	2	1	2	1	5	2	4	2	0	2	0	2	0	2	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:155226280G>T	ENST00000357232.3	-	16	3998	c.3999C>A	c.(3997-3999)gaC>gaA	p.D1333E		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1333	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAATTTCTCTGTCAAGTATGG	0.338													8	50					2.17888e-05	2.36475e-05	1	0	T	155226280	G	T	155226280	3	4	80	1	0	0	0	0	1	0	0	0	4320	1368	48	4	4791	4	DCHS2	4	155226280	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	32372243	155226280	35927996	169	15297											
TLL1	7092	broad.mit.edu	37	chr4	166910618	166910618	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaccttacgcagaacccCtttggaaaccttggacatac	12	10	7	12	1	0	2	0	1	0	1	0	4	0	4	4	2	4	1	4	2	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:166910618C>A	ENST00000061240.2	+	2	902	c.255C>A	c.(253-255)ccC>ccA	p.P85P	TLL1_ENST00000507499.1_Silent_p.P85P|TLL1_ENST00000513213.1_Silent_p.P85P	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	85					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CGCAGAACCCCTTTGGAAACC	0.328													46	131					1.07234e-20	1.60501e-20	1	0	A	166910618	C	A	166910618	2	1	80	1	0	0	0	0	0	0	0	1	16039	668	24	4		4	TLL1	4	166910618	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	11684338	166910618	24243658	170	15298											
GALNTL6	442117	broad.mit.edu	37	chr4	173269706	173269706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtatctggaaaggctgcCaaacaccagcatcattatcc	13	9	8	11	0	2	0	1	0	1	0	3	2	3	1	3	2	3	3	3	2	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:173269706C>A	ENST00000506823.1	+	5	1076	c.419C>A	c.(418-420)cCa>cAa	p.P140Q	GALNTL6_ENST00000508122.1_Missense_Mutation_p.P123Q|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	140	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAAAGGCTGCCAAACACCAGC	0.403													40	105					9.14704e-12	1.18791e-11	1	0	A	173269706	C	A	173269706	3	1	80	1	0	0	0	0	1	0	0	0	6274	594	21	4	433	4	GALNTL6	4	173269706	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	6359088	173269706	17884570	171	15299											
LRP2BP	55805	broad.mit.edu	37	chr4	186295607	186295607	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attttcttcatatagtccacCcctttctccttcgacaaaag	10	15	3	13	1	3	0	1	0	2	0	6	1	4	0	4	0	0	0	4	0	4	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:186295607C>T	ENST00000362004.3	-	4	1156	c.345G>A	c.(343-345)ggG>ggA	p.G115G	LRP2BP_ENST00000328559.7_Silent_p.G113G|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000510776.1_Silent_p.G87G|LRP2BP_ENST00000505916.1_Silent_p.G113G			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	113						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TATAGTCCACCCCTTTCTCCT	0.393													34	77					0	0	0	0	T	186295607	C	T	186295607	2	4	80	1	0	0	0	0	0	0	0	1	9021	610	22	4		4	LRP2BP	4	186295607	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	13025901	186295607	4858669	172	15300											
IRX1	79192	broad.mit.edu	37	chr5	3600253	3600253	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctgggcgttggcgctccCcacgccgcgccccatggccc	2	7	12	20	5	0	0	0	0	0	0	2	0	2	0	7	3	0	2	7	3	0	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:3600253C>T	ENST00000302006.3	+	2	1243	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	397						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTGGCGCTCCCCACGCCGCGC	0.667													11	42					0	0	0	0	T	3600253	C	T	3600253	2	4	80	1	0	0	0	0	0	0	0	1	7896	610	22	4		4	IRX1	5	3600253	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08		3600253	177315007	173	15301											
ADCY2	108	broad.mit.edu	37	chr5	7709444	7709444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggggcagccaagccctttGcacacctacatcacagggac	10	5	12	14	0	1	0	1	0	0	0	1	1	1	1	3	4	4	2	3	4	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:7709444G>T	ENST00000338316.4	+	10	1611	c.1522G>T	c.(1522-1524)Gca>Tca	p.A508S	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.A328S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	508					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CAAGCCCTTTGCACACCTACA	0.602													8	40					5.18039e-06	5.72175e-06	1	0	T	7709444	G	T	7709444	3	4	80	1	0	0	0	0	1	0	0	0	294	1319	46	4	1560	4	ADCY2	5	7709444	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	4109191	7709444	173205816	174	15302											
ADCY2	108	broad.mit.edu	37	chr5	7826861	7826861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacgagcctcgtcctgcaGaccctcggatacacgtgcac	9	6	11	15	4	0	2	0	0	0	2	3	5	1	3	3	1	4	2	3	1	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:7826861G>T	ENST00000338316.4	+	25	3242	c.3153G>T	c.(3151-3153)caG>caT	p.Q1051H	ADCY2_ENST00000537121.1_Missense_Mutation_p.Q871H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1051					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCGTCCTGCAGACCCTCGGAT	0.493													23	105					4.54149e-19	6.61017e-19	1	0	T	7826861	G	T	7826861	3	4	80	1	0	0	0	0	1	0	0	0	294	933	33	2	3251	2	ADCY2	5	7826861	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	117417	7826861	173088399	175	15303											
DNAH5	1767	broad.mit.edu	37	chr5	13692194	13692194	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtagttcaagtccgttcGaactggcttcttatagatgg	10	14	10	7	2	2	1	1	0	1	1	4	2	3	1	1	2	1	4	1	2	6	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:13692194G>T	ENST00000265104.4	-	79	13878	c.13774C>A	c.(13774-13776)Cga>Aga	p.R4592R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4592					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R4592*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGTCCGTTCGAACTGGCTTC	0.468									Kartagener syndrome				15	89					6.31663e-08	7.30559e-08	1	0	T	13692194	G	T	13692194	2	4	80	1	0	0	0	0	0	0	0	1	4641	1066	37	3		3	DNAH5	5	13692194	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	5865333	13692194	167223066	176	15304											
DNAH5	1767	broad.mit.edu	37	chr5	13876810	13876810	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctttttggtggagttgaTaattgtgctaagcacagaaa	12	14	10	5	0	0	2	0	1	0	1	0	3	0	3	1	2	3	3	1	2	4	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:13876810T>A	ENST00000265104.4	-	22	3483	c.3379A>T	c.(3379-3381)Atc>Ttc	p.I1127F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1127	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTGGAGTTGATAATTGTGCTA	0.378									Kartagener syndrome				17	82					0	0	0	0	A	13876810	T	A	13876810	3	1	80	1	0	0	0	0	1	0	0	0	4641	1406	49	5	10727	5	DNAH5	5	13876810	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	184616	13876810	167038450	177	15305											
PRDM9	56979	broad.mit.edu	37	chr5	23524604	23524604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgggcatcaagtggggcaGcaagtggaagaaagagctca	14	5	15	7	0	2	2	2	0	0	2	2	3	2	3	0	4	2	4	0	4	4	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:23524604G>T	ENST00000296682.3	+	10	1294	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	371					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGTGGGGCAGCAAGTGGAAG	0.468										HNSCC(3;0.000094)			26	87					1.7881e-09	2.18971e-09	1	0	T	23524604	G	T	23524604	3	4	80	1	0	0	0	0	1	0	0	0	12543	971	34	4	1146	4	PRDM9	5	23524604	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	9647794	23524604	157390656	178	15306											
PDZD2	23037	broad.mit.edu	37	chr5	32090710	32090710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagcctgggccacccaGgtgacgcagcagcaaggttg	8	4	16	13	2	0	1	0	1	0	0	0	2	0	2	4	4	3	4	4	4	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:32090710G>A	ENST00000438447.1	+	20	7544	c.7156G>A	c.(7156-7158)Ggt>Agt	p.G2386S	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2386S			O15018	PDZD2_HUMAN	PDZ domain containing 2	2386					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGCCACCCAGGTGACGCAGC	0.617													14	52					0	0	0	0	A	32090710	G	A	32090710	3	1	80	1	0	0	0	0	1	0	0	0	11772	1000	35	4	7230	4	PDZD2	5	32090710	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	8566106	32090710	148824550	179	15307											
ADAMTS12	81792	broad.mit.edu	37	chr5	33534996	33534996	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctggaggtctgggtttGtgatcacatagacattggtc	9	14	12	6	0	3	2	1	1	2	1	4	3	3	3	0	4	0	1	0	4	2	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:33534996G>C	ENST00000504830.1	-	23	4883	c.4548C>G	c.(4546-4548)caC>caG	p.H1516Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.H1431Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1516	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTCTGGGTTTGTGATCACATA	0.493										HNSCC(64;0.19)			35	112					0	0	0	0	C	33534996	G	C	33534996	3	2	80	1	0	0	0	0	1	0	0	0	257	1368	48	4	244	4	ADAMTS12	5	33534996	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1444286	33534996	147380264	180	15308											
ADAMTS12	81792	broad.mit.edu	37	chr5	33577237	33577237	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtgacactgcgaatcCgcactccaccaccacaggaa	13	5	7	16	2	0	1	0	1	0	0	2	3	2	2	4	1	1	1	4	1	2	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:33577237C>G	ENST00000504830.1	-	19	3229	c.2894G>C	c.(2893-2895)cGg>cCg	p.R965P	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R880P|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	965	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R965Q(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACTGCGAATCCGCACTCCACC	0.493										HNSCC(64;0.19)			30	118					0	0	0	0	G	33577237	C	G	33577237	3	3	80	1	0	0	0	0	1	0	0	0	257	652	23	3	1914	3	ADAMTS12	5	33577237	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	42241	33577237	147338023	181	15309											
IL7R	3575	broad.mit.edu	37	chr5	35876247	35876247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggaggggatgtgcagagcCccaactgcccatctgaggat	9	8	14	10	0	1	2	0	1	1	1	1	5	1	5	3	4	4	1	3	4	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:35876247C>T	ENST00000303115.3	+	8	1168	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	347					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGTGCAGAGCCCCAACTGCCC	0.502			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						17	52					0	0	0	0	T	35876247	C	T	35876247	3	4	80	1	0	0	0	0	1	0	0	0	7758	623	22	4	1069	4	IL7R	5	35876247	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2299010	35876247	145039013	182	15310											
UGT3A1	133688	broad.mit.edu	37	chr5	35988630	35988630	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaatctgagacacccggtCcaacagtaggtaatggcttc	13	8	10	10	1	1	2	0	1	1	2	3	3	2	2	2	3	1	3	2	3	5	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:35988630C>A	ENST00000274278.3	-	2	475	c.118G>T	c.(118-120)Gac>Tac	p.D40Y	UGT3A1_ENST00000503189.1_Missense_Mutation_p.D40Y|UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	40						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)			GACACCCGGTCCAACAGTAGG	0.388													14	64					0.0285812	0.0291758	1	0	A	35988630	C	A	35988630	3	1	80	1	0	0	0	0	1	0	0	0	17059	855	30	2	1559	2	UGT3A1	5	35988630	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	112383	35988630	144926630	183	15311											
C9	735	broad.mit.edu	37	chr5	39308356	39308356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaccctctcccctctttaCacaatcatctttattaaatt	10	17	0	14	0	5	0	1	0	4	0	6	0	5	0	3	0	2	0	3	0	6	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:39308356C>T	ENST00000263408.4	-	8	1311	c.1216G>A	c.(1216-1218)Gta>Ata	p.V406I		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	406	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CCCCTCTTTACACAATCATCT	0.418													24	94					0	0	0	0	T	39308356	C	T	39308356	3	4	80	1	0	0	0	0	1	0	0	0	2468	478	17	4	479	4	C9	5	39308356	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	3319726	39308356	141606904	184	15312											
C7	730	broad.mit.edu	37	chr5	40979897	40979897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgacagtttgcaagatgCatgttctccactgtcagggt	8	13	10	10	0	3	2	1	1	2	1	4	2	3	2	1	1	2	4	1	1	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:40979897C>T	ENST00000313164.9	+	17	2595	c.2236C>T	c.(2236-2238)Cat>Tat	p.H746Y	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	746	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.H746N(1)					Ovarian(839;0.0112)				TTGCAAGATGCATGTTCTCCA	0.453													14	53					0	0	0	0	T	40979897	C	T	40979897	3	4	80	1	0	0	0	0	1	0	0	0	2398	710	25	4	2302	4	C7	5	40979897	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1671541	40979897	139935363	185	15313											
GFM2	84340	broad.mit.edu	37	chr5	74017519	74017519	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttgagcagtgtattttgAtcttgaggattcatggcttg	7	16	13	5	1	2	3	1	3	1	0	2	4	2	4	0	3	1	4	0	3	1	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:74017519A>G	ENST00000296805.3	-	21	2758	c.2301T>C	c.(2299-2301)gaT>gaC	p.D767D	GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000345239.2_Silent_p.D720D|GFM2_ENST00000509430.1_Silent_p.D767D	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	767					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GTGTATTTTGATCTTGAGGAT	0.383													25	72					0	0	0	0	G	74017519	A	G	74017519	2	3	80	1	0	0	0	0	0	0	0	1	6393	330	12	5		5	GFM2	5	74017519	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08	33037622	74017519	106897741	186	15314											
IQGAP2	10788	broad.mit.edu	37	chr5	75906917	75906917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggactttagaaactttgcTcctacctactgcgaatatta	12	13	7	9	1	0	1	0	0	0	1	1	4	1	2	2	1	5	1	2	1	7	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:75906917T>C	ENST00000274364.6	+	13	1727	c.1430T>C	c.(1429-1431)cTc>cCc	p.L477P	IQGAP2_ENST00000396234.3_Missense_Mutation_p.L30P|IQGAP2_ENST00000502745.1_Missense_Mutation_p.L30P|IQGAP2_ENST00000379730.3_Missense_Mutation_p.L36P	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	477					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAAACTTTGCTCCTACCTACT	0.408													41	86					0	0	0	0	C	75906917	T	C	75906917	3	2	80	1	0	0	0	0	1	0	0	0	7868	1551	54	5	1480	5	IQGAP2	5	75906917	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	1889398	75906917	105008343	187	15315											
GPR98	84059	broad.mit.edu	37	chr5	89933675	89933675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatggctctgttttgttttTatctgggcaaagtgacacaa	10	16	9	6	0	2	1	0	1	2	0	2	1	2	1	0	2	0	4	0	2	4	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:89933675T>C	ENST00000405460.2	+	11	2246	c.2150T>C	c.(2149-2151)tTa>tCa	p.L717S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	717	Calx-beta 5.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTTTGTTTTTATCTGGGCAA	0.423													29	52					0	0	0	0	C	89933675	T	C	89933675	3	2	80	1	0	0	0	0	1	0	0	0	6771	1764	61	5	2192	5	GPR98	5	89933675	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	14026758	89933675	90981585	188	15316											
PAM	5066	broad.mit.edu	37	chr5	102286460	102286460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccagttgatgtaagttttGgtgacctactggctgcaaga	10	13	11	7	0	0	3	0	2	0	1	1	3	1	3	2	2	2	5	2	2	3	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:102286460G>T	ENST00000438793.3	+	11	1311	c.841G>T	c.(841-843)Ggt>Tgt	p.G281C	PAM_ENST00000304400.7_Missense_Mutation_p.G281C|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000346918.2_Missense_Mutation_p.G281C|PAM_ENST00000455264.2_Missense_Mutation_p.G281C|PAM_ENST00000274392.9_Missense_Mutation_p.G184C|PAM_ENST00000348126.2_Missense_Mutation_p.G281C	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	281	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGTAAGTTTTGGTGACCTACT	0.378													28	56					3.67414e-24	5.71071e-24	1	0	T	102286460	G	T	102286460	3	4	80	1	0	0	0	0	1	0	0	0	11483	1348	47	4	883	4	PAM	5	102286460	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	12352785	102286460	78628800	189	15317											
PPIP5K2	23262	broad.mit.edu	37	chr5	102474116	102474116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatatagtattcttcaagctGaaggtattttacttcctcgt	10	18	6	7	1	2	1	1	1	1	0	4	1	3	1	1	1	2	3	1	1	8	10			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:102474116G>A	ENST00000321521.9	+	5	1003	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.E144K|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.E144K			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	144					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTTCAAGCTGAAGGTATTTT	0.338													16	47					0	0	0	0	A	102474116	G	A	102474116	3	1	80	1	0	0	0	0	1	0	0	0	12409	1291	45	2	444	2	PPIP5K2	5	102474116	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	187656	102474116	78441144	190	15318											
MCC	4163	broad.mit.edu	37	chr5	112384928	112384928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctcccgcgtgctcagCttcagctccagggccttctt	3	11	11	16	2	3	0	2	0	1	0	5	0	5	0	4	2	3	3	4	2	0	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:112384928C>A	ENST00000302475.4	-	14	2510	c.1947G>T	c.(1945-1947)aaG>aaT	p.K649N	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.K839N|MCC_ENST00000515367.2_Missense_Mutation_p.K586N	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	649					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCGTGCTCAGCTTCAGCTCCA	0.597													14	29					4.93089e-13	6.51447e-13	1	0	A	112384928	C	A	112384928	3	1	80	1	0	0	0	0	1	0	0	0	9442	796	28	4	558	4	MCC	5	112384928	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	9910812	112384928	68530332	191	15319											
SLC12A2	6558	broad.mit.edu	37	chr5	127510346	127510348	+	In_Frame_Del	DEL	ATT	ATT	-																															aaccactcagtgaaaaaccaAttacacacaaaggtaatttt																								rs149957408		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:127510346_127510348delATT	ENST00000262461.2	+	20	3106_3108	c.2917_2919delATT	c.(2917-2919)del	p.I973del	SLC12A2_ENST00000343225.4_In_Frame_Del_p.I973del	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	973					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGAAAAACCAATTACACACAAAG	0.281													16	39	---	---	---	---					-	127510348	ATT	-	127510346	7	5	80	1	0	1	0	1	0	0	0	0	14471	101	4	0	2995	0	SLC12A2	5	127510346	In_Frame_Del	DEL	ATT	TCGA-CN-5360-01A-01D-1434-08	15125418	127510346	53404914	192	15320											
PCDHA2	56146	broad.mit.edu	37	chr5	140176058	140176058	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcgggtgggcgagcgcgcGttgtcgagctacgtttcggt	3	9	19	10	9	0	0	0	0	0	0	2	2	0	0	0	4	3	3	0	4	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140176058G>T	ENST00000526136.1	+	1	1509	c.1509G>T	c.(1507-1509)gcG>gcT	p.A503A	PCDHA2_ENST00000378132.1_Silent_p.A503A|PCDHA2_ENST00000520672.2_Silent_p.A503A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1												p.A503A(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCGCGCGTTGTCGAGCT	0.677													17	33					5.35267e-07	6.05813e-07	1	0	T	140176058	G	T	140176058	2	4	80	1	0	0	0	0	0	0	0	1	11595	1132	40	3		3	PCDHA2	5	140176058	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	12665712	140176058	40739202	193	15321											
PCDHA3	56145	broad.mit.edu	37	chr5	140181115	140181115	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggaggtgatcgtggaCaggccgctgcaggttttcca	7	9	14	11	2	0	1	0	1	0	0	2	3	1	3	3	5	1	3	3	5	0	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140181115C>A	ENST00000522353.2	+	1	333	c.333C>A	c.(331-333)gaC>gaA	p.D111E	PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D111E|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1												p.D111E(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCGTGGACAGGCCGCTGC	0.507													55	115					1.11015e-26	1.75327e-26	1	0	A	140181115	C	A	140181115	3	1	80	1	0	0	0	0	1	0	0	0	11596	477	17	4	335	4	PCDHA3	5	140181115	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	5057	140181115	40734145	194	15322											
PCDHA7	56141	broad.mit.edu	37	chr5	140215406	140215406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acatcttcactgtgtcggcgGgggacgcggacgcgcagaag	8	6	16	11	6	2	1	1	0	1	1	3	3	2	3	0	4	0	1	0	4	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140215406G>T	ENST00000525929.1	+	1	1438	c.1438G>T	c.(1438-1440)Ggg>Tgg	p.G480W	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G480W|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTCGGCGGGGGACGCGGA	0.672													22	26					7.92952e-12	1.03174e-11	1	0	T	140215406	G	T	140215406	3	4	80	1	0	0	0	0	1	0	0	0	11600	1232	43	4	1440	4	PCDHA7	5	140215406	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	34291	140215406	40699854	195	15323											
PCDHA9	9752	broad.mit.edu	37	chr5	140229949	140229949	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgagcatcccgttccgCgtggggctgtacacgggcga	6	6	16	13	7	0	0	0	0	0	0	2	2	2	0	2	3	3	4	2	3	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140229949C>T	ENST00000378122.3	+	1	2593	c.1869C>T	c.(1867-1869)cgC>cgT	p.R623R	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.R623R|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCGTTCCGCGTGGGGCTGT	0.667													18	50					0	0	0	0	T	140229949	C	T	140229949	2	4	80	1	0	0	0	0	0	0	0	1	11602	755	27	1		1	PCDHA9	5	140229949	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	14543	140229949	40685311	196	15324											
PCDHA10	56139	broad.mit.edu	37	chr5	140236300	140236300	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaaacctgaatttaccGgatctgtttctctgctgatc	9	13	9	10	1	2	2	0	2	2	0	4	4	2	3	2	2	3	3	2	2	3	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140236300G>T	ENST00000307360.5	+	1	667	c.667G>T	c.(667-669)Gga>Tga	p.G223*	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Nonsense_Mutation_p.G223*|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAATTTACCGGATCTGTTTC	0.433													60	113					6.20203e-27	9.84018e-27	1	0	T	140236300	G	T	140236300	4	4	80	1	0	0	0	0	0	1	0	0	11591	1117	39	3	669	3	PCDHA10	5	140236300	Nonsense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	6351	140236300	40678960	197	15325											
PCDHA11	56138	broad.mit.edu	37	chr5	140250827	140250827	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagcctcctggtactcacGctgctgctgtatacggcgct	5	11	10	15	3	1	0	1	0	0	0	3	0	3	0	3	2	5	6	3	2	3	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140250827G>T	ENST00000398640.2	+	1	2139	c.2139G>T	c.(2137-2139)acG>acT	p.T713T	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTACTCACGCTGCTGCTGT	0.687													12	30					1.08611e-07	1.24775e-07	1	0	T	140250827	G	T	140250827	2	4	80	1	0	0	0	0	0	0	0	1	11592	1074	38	3		3	PCDHA11	5	140250827	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	14527	140250827	40664433	198	15326											
PCDHB7	56129	broad.mit.edu	37	chr5	140553967	140553967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccacctgtttgccctcagGtccctggactacgaggccct	5	9	11	16	1	1	0	1	0	0	0	2	2	2	1	5	4	2	1	5	4	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140553967G>T	ENST00000231137.3	+	1	1725	c.1551G>T	c.(1549-1551)agG>agT	p.R517S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		517	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCCCTCAGGTCCCTGGACT	0.706													28	60					2.4375e-19	3.58578e-19	1	0	T	140553967	G	T	140553967	3	4	80	1	0	0	0	0	1	0	0	0	11618	1252	44	4	1553	4	PCDHB7	5	140553967	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	303140	140553967	40361293	199	15327											
PCDHB10	56126	broad.mit.edu	37	chr5	140573129	140573129	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagatgtagggttttagTggaagtattggacaccaatg	12	12	13	4	0	0	1	0	0	0	1	0	3	0	3	1	3	1	4	1	3	6	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140573129T>A	ENST00000239446.4	+	1	1188	c.1004T>A	c.(1003-1005)gTg>gAg	p.V335E		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		335	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGGTTTTAGTGGAAGTATTG	0.408													41	80					0	0	0	0	A	140573129	T	A	140573129	3	1	80	1	0	0	0	0	1	0	0	0	11606	1696	59	5	1006	5	PCDHB10	5	140573129	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	19162	140573129	40342131	200	15328											
SLC36A2	153201	broad.mit.edu	37	chr5	150712872	150712872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accagtggcaaccggctgggGtctgggatttcctaaagaag	10	8	14	9	1	1	1	0	0	1	1	2	2	2	2	3	5	1	2	3	5	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:150712872G>A	ENST00000335244.4	-	7	885	c.756C>T	c.(754-756)gaC>gaT	p.D252D	SLC36A2_ENST00000521967.1_Silent_p.D252D	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	252					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCGGCTGGGGTCTGGGATTT	0.438													25	56					0	0	0	0	A	150712872	G	A	150712872	2	1	80	1	0	0	0	0	0	0	0	1	14682	1252	44	4		4	SLC36A2	5	150712872	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	10139743	150712872	30202388	201	15329											
FOXI1	2299	broad.mit.edu	37	chr5	169535593	169535593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagtggtgtcctctaccCcagggagggcaccgaggtct	7	7	13	14	1	2	0	0	0	2	0	3	2	3	1	5	4	1	1	5	4	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:169535593C>A	ENST00000449804.2	+	2	875	c.830C>A	c.(829-831)cCc>cAc	p.P277H	FOXI1_ENST00000306268.6_Missense_Mutation_p.P372H	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	372					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCCTCTACCCCAGGGAGGGC	0.572									Pendred syndrome				24	75					7.38237e-10	9.13817e-10	1	0	A	169535593	C	A	169535593	3	1	80	1	0	0	0	0	1	0	0	0	6056	623	22	4	1121	4	FOXI1	5	169535593	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	18822721	169535593	11379667	202	15330											
RANBP17	64901	broad.mit.edu	37	chr5	170720913	170720913	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcctcatgaacaccatTgtctttgaagactgtcggaa	10	13	8	10	1	3	3	1	2	2	1	5	4	4	4	2	1	1	0	2	1	3	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:170720913T>A	ENST00000523189.1	+	26	3134	c.2970T>A	c.(2968-2970)atT>atA	p.I990I	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	990					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAACACCATTGTCTTTGAAG	0.488			T	TRD@	ALL								61	137					0	0	0	0	A	170720913	T	A	170720913	2	1	80	1	0	0	0	0	0	0	0	1	13109	1800	63	5		5	RANBP17	5	170720913	Silent	SNP	T	TCGA-CN-5360-01A-01D-1434-08	1185320	170720913	10194347	203	15331											
HK3	3101	broad.mit.edu	37	chr5	176309035	176309035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccatcgtccccaaaggcgCcccactccatgttgatgcac	9	7	8	17	2	0	1	0	1	0	0	3	1	2	1	6	1	2	2	6	1	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:176309035C>T	ENST00000292432.5	-	16	2238	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	716	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAAAGGCGCCCCACTCCAT	0.632													23	56					0	0	0	0	T	176309035	C	T	176309035	3	4	80	1	0	0	0	0	1	0	0	0	7242	739	26	4	640	4	HK3	5	176309035	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	5588122	176309035	4606225	204	15332											
NSD1	64324	broad.mit.edu	37	chr5	176637631	176637631	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttgttcacaaaccccagtCagattttacaaatgatgctc	12	13	5	11	0	3	2	2	1	1	1	4	2	3	2	2	0	3	2	2	0	3	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:176637631C>G	ENST00000439151.2	+	5	2276	c.2231C>G	c.(2230-2232)tCa>tGa	p.S744*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.S475*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S475*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.S641*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	744					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAACCCCAGTCAGATTTTACA	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			25	56					0	0	0	0	G	176637631	C	G	176637631	4	3	80	1	0	0	0	0	0	1	0	0	10740	838	29	2	2245	2	NSD1	5	176637631	Nonsense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	328596	176637631	4277629	205	15333											
CAP2	10486	broad.mit.edu	37	chr6	17539517	17539517	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtcctgtagcatccacAgtatcagcgttttctgtcct	7	13	9	12	1	2	0	1	0	1	0	5	0	5	0	3	1	2	4	3	1	2	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:17539517A>G	ENST00000229922.2	+	8	1186	c.654A>G	c.(652-654)acA>acG	p.T218T	CAP2_ENST00000493172.1_Intron|CAP2_ENST00000378990.2_Silent_p.T192T|CAP2_ENST00000489374.1_Silent_p.T106T|CAP2_ENST00000465994.1_Silent_p.T154T	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	218					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TAGCATCCACAGTATCAGCGT	0.567													59	195					0	0	0	0	G	17539517	A	G	17539517	2	3	80	1	0	0	0	0	0	0	0	1	2645	175	7	5		5	CAP2	6	17539517	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08		17539517	153575550	206	15334											
SOX4	6659	broad.mit.edu	37	chr6	21596066	21596066	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcgaccgggacctggattTtaacttcgagcccggctccg	6	9	12	14	5	0	0	0	0	0	0	3	4	1	2	4	3	2	2	4	3	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:21596066T>G	ENST00000244745.1	+	1	2095	c.1301T>G	c.(1300-1302)tTt>tGt	p.F434C	SOX4_ENST00000543472.1_Missense_Mutation_p.F434C	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	434					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GACCTGGATTTTAACTTCGAG	0.607													10	26					0	0	0	0	G	21596066	T	G	21596066	3	3	80	1	0	0	0	0	1	0	0	0	15041	1841	64	5	1303	5	SOX4	6	21596066	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	4056549	21596066	149519001	207	15335											
FAM65B	9750	broad.mit.edu	37	chr6	24873954	24873954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattgttgtttttgtggcCtaaattgtgcattttcttca	6	20	10	5	0	2	0	1	0	1	0	2	1	2	1	1	2	1	3	1	2	2	9			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:24873954C>A	ENST00000259698.4	-	3	350	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C	FAM65B_ENST00000510784.2_Missense_Mutation_p.G93C|FAM65B_ENST00000540914.1_Missense_Mutation_p.G59C|FAM65B_ENST00000538035.1_Missense_Mutation_p.G88C|FAM65B_ENST00000378023.4_Missense_Mutation_p.G59C	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	59	Involved in cell filopodia formation.				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TTTTTGTGGCCTAAATTGTGC	0.428													26	107					4.26978e-12	5.5661e-12	1	0	A	24873954	C	A	24873954	3	1	80	1	0	0	0	0	1	0	0	0	5646	681	24	4	3125	4	FAM65B	6	24873954	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	3277888	24873954	146241113	208	15336											
SCGN	10590	broad.mit.edu	37	chr6	25665232	25665232	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctttcgccgggaaaaccCactggacagcagcgtggagt	9	7	13	12	3	1	0	0	0	1	0	2	3	1	3	2	3	3	2	2	3	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:25665232C>A	ENST00000377961.2	+	4	476	c.308C>A	c.(307-309)cCa>cAa	p.P103Q	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	103						extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGGGAAAACCCACTGGACAGC	0.493													17	70					4.96729e-08	5.75469e-08	1	0	A	25665232	C	A	25665232	3	1	80	1	0	0	0	0	1	0	0	0	13990	594	21	4	322	4	SCGN	6	25665232	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	791278	25665232	145449835	209	15337											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27115070	27115070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccagtgtacctggctgcgGtgctggagtacctgaccgct	5	9	14	13	3	0	1	0	1	0	0	0	2	0	2	4	3	4	5	4	3	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:27115070G>A	ENST00000377459.1	+	1	210	c.163G>A	c.(163-165)Gtg>Atg	p.V55M		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	55					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						CCTGGCTGCGGTGCTGGAGTA	0.652													26	59					0	0	0	0	A	27115070	G	A	27115070	3	1	80	1	0	0	0	0	1	0	0	0	7184	1261	44	4	165	4	HIST1H2AH	6	27115070	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1449838	27115070	143999997	210	15338											
SCAND3	114821	broad.mit.edu	37	chr6	28539885	28539886	+	Frame_Shift_Ins	INS	-	-	A																															aattttaaagcaatctcagcINSaagctcaggatagtcatttt																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:28539885_28539886insA	ENST00000452236.2	-	4	4397_4398	c.3780_3781insT	c.(3778-3783)ctctgafs	p.*1261fs		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1261					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gcaatctcagcaagctcaggat	0.366													19	83	---	---	---	---					A	28539886	-	A	28539885	7	5	80	1	0	1	1	0	0	0	0	0	13962	710	25	0	200	0	SCAND3	6	28539885	Frame_Shift_Ins	INS	-	TCGA-CN-5360-01A-01D-1434-08	1424815	28539885	142575182	211	15339											
OR2W1	26692	broad.mit.edu	37	chr6	29012793	29012793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacattggtgtatgaagctGggaatccaggagagatgcaa	13	9	14	5	0	0	2	0	1	0	1	1	5	1	4	1	3	3	4	1	3	5	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:29012793G>T	ENST00000377175.1	-	1	224	c.160C>A	c.(160-162)Cag>Aag	p.Q54K		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GTATGAAGCTGGGAATCCAGG	0.428													38	106					1.836e-18	2.6443e-18	1	0	T	29012793	G	T	29012793	3	4	80	1	0	0	0	0	1	0	0	0	11103	1357	47	4	806	4	OR2W1	6	29012793	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	472908	29012793	142102274	212	15340											
PPP1R11	6992	broad.mit.edu	37	chr6	30035206	30035206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatggccgaggcaggggctGggctgagcgagaccgtcact	7	5	17	12	3	1	2	1	1	0	1	1	4	1	2	3	5	1	3	3	5	0	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:30035206G>A	ENST00000376772.3	+	1	342	c.19G>A	c.(19-21)Ggg>Agg	p.G7R	PPP1R11_ENST00000376769.2_5'UTR|PPP1R11_ENST00000376773.1_Intron	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	7						soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						GGCAGGGGCTGGGCTGAGCGA	0.612													27	100					0	0	0	0	A	30035206	G	A	30035206	3	1	80	1	0	0	0	0	1	0	0	0	12429	1348	47	4	21	4	PPP1R11	6	30035206	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1022413	30035206	141079861	213	15341											
TRIM39	56658	broad.mit.edu	37	chr6	30309588	30309588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagactccgggatctccCtgacacaccaaggcgtttca	11	7	9	14	2	2	2	1	1	1	1	4	4	3	3	3	2	0	1	3	2	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:30309588C>T	ENST00000376659.5	+	8	1617	c.1019C>T	c.(1018-1020)cCt>cTt	p.P340L	TRIM39_ENST00000396551.3_Missense_Mutation_p.P340L|TRIM39_ENST00000396548.1_Missense_Mutation_p.P340L|TRIM39_ENST00000376656.4_Missense_Mutation_p.P370L|TRIM39_ENST00000540416.1_Missense_Mutation_p.P340L|TRIM39_ENST00000396547.1_Missense_Mutation_p.P370L|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.P252L	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						CGGGATCTCCCTGACACACCA	0.572													15	40					0	0	0	0	T	30309588	C	T	30309588	3	4	80	1	0	0	0	0	1	0	0	0	16608	681	24	4	1135	4	TRIM39	6	30309588	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	274382	30309588	140805479	214	15342											
CFB	629	broad.mit.edu	37	chr6	31911569	31911569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctggcccagaaagtaaaGatgtccacccatgccaggtg	13	6	11	11	0	0	2	0	0	0	2	1	2	1	2	4	2	2	2	4	2	4	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:31911569G>T	ENST00000556679.1	+	10	1312	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	C2_ENST00000442278.2_Missense_Mutation_p.K440N|C2_ENST00000452323.2_Missense_Mutation_p.K358N|C2_ENST00000469372.1_Missense_Mutation_p.K326N|C2_ENST00000468407.1_3'UTR|CFB_ENST00000456570.1_Missense_Mutation_p.K419N|CFB_ENST00000477310.1_Missense_Mutation_p.K343N|C2_ENST00000299367.5_Missense_Mutation_p.K572N			P00751	CFAB_HUMAN	complement factor B	587	VWFA.				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						AGAAAGTAAAGATGTCCACCC	0.547													35	118					2.87052e-16	3.9759e-16	1	0	T	31911569	G	T	31911569	3	4	80	1	0	0	0	0	1	0	0	0	3307	933	33	2		2	CFB	6	31911569	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1601981	31911569	139203498	215	15343											
DNAH8	1769	broad.mit.edu	37	chr6	38754683	38754683	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaacaggcaaagagattGctaaaattggaaagtaaatt	19	8	9	5	0	0	2	0	0	0	2	0	4	0	3	1	2	2	3	1	2	7	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:38754683G>A	ENST00000359357.3	+	16	2141	c.1887G>A	c.(1885-1887)ttG>ttA	p.L629L	DNAH8_ENST00000441566.1_Silent_p.L629L|DNAH8_ENST00000449981.2_Silent_p.L846L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAAGAGATTGCTAAAATTGG	0.308													13	52					0	0	0	0	A	38754683	G	A	38754683	2	1	80	1	0	0	0	0	0	0	0	1	4643	1310	46	4		4	DNAH8	6	38754683	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	6843114	38754683	132360384	216	15344											
KIF6	221458	broad.mit.edu	37	chr6	39353414	39353414	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacctagggctacttgctgTatatgccgctgggtgatttc	6	14	11	10	1	0	1	0	1	0	0	1	1	0	1	2	2	4	4	2	2	5	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:39353414T>C	ENST00000287152.7	-	16	1939	c.1845A>G	c.(1843-1845)atA>atG	p.I615M	KIF6_ENST00000373216.3_Missense_Mutation_p.I615M|KIF6_ENST00000541946.1_Missense_Mutation_p.I66M|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000229913.5_Missense_Mutation_p.I66M|KIF6_ENST00000373213.4_Missense_Mutation_p.I454M|KIF6_ENST00000538893.1_Missense_Mutation_p.I559M|KIF6_ENST00000394362.1_Missense_Mutation_p.I66M	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	615					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTACTTGCTGTATATGCCGCT	0.448													15	74					0	0	0	0	C	39353414	T	C	39353414	3	2	80	1	0	0	0	0	1	0	0	0	8359	1628	57	5	631	5	KIF6	6	39353414	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	598731	39353414	131761653	217	15345											
UBR2	23304	broad.mit.edu	37	chr6	42613293	42613293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agttgagtatcaagcctatgGctcatagtgaattggtaaag	13	12	11	5	0	2	2	2	2	0	0	2	2	2	2	1	2	1	4	1	2	7	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:42613293G>A	ENST00000372899.1	+	21	2632	c.2374G>A	c.(2374-2376)Gct>Act	p.A792T	UBR2_ENST00000372901.1_Missense_Mutation_p.A792T|UBR2_ENST00000372883.3_Missense_Mutation_p.A296T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	792					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CAAGCCTATGGCTCATAGTGA	0.373													28	82					0	0	0	0	A	42613293	G	A	42613293	3	1	80	1	0	0	0	0	1	0	0	0	16998	1203	42	4	2602	4	UBR2	6	42613293	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	3259879	42613293	128501774	218	15346											
PGK2	5232	broad.mit.edu	37	chr6	49754394	49754394	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaactatgagcgcggtgTgcagtgccaaaagcatcatt	12	9	12	8	2	1	1	1	1	0	0	1	2	1	2	1	2	5	2	1	2	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:49754394T>C	ENST00000304801.3	-	1	659	c.507A>G	c.(505-507)gcA>gcG	p.A169A		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	169					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GAGCGCGGTGTGCAGTGCCAA	0.453													28	73					0	0	0	0	C	49754394	T	C	49754394	2	2	80	1	0	0	0	0	0	0	0	1	11863	1683	59	5		5	PGK2	6	49754394	Silent	SNP	T	TCGA-CN-5360-01A-01D-1434-08	7141101	49754394	121360673	219	15347											
PKHD1	5314	broad.mit.edu	37	chr6	51927386	51927386	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagggacaatctgccacctgTaccctggggtggcttcagtc	7	10	12	12	0	2	0	1	0	1	0	3	1	2	1	3	4	2	2	3	4	3	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:51927386T>A	ENST00000371117.3	-	14	1324	c.1049A>T	c.(1048-1050)tAc>tTc	p.Y350F	PKHD1_ENST00000340994.4_Missense_Mutation_p.Y350F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	350					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGCCACCTGTACCCTGGGGT	0.483													49	118					0	0	0	0	A	51927386	T	A	51927386	3	1	80	1	0	0	0	0	1	0	0	0	12043	1638	57	5	11430	5	PKHD1	6	51927386	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	2172992	51927386	119187681	220	15348											
DST	667	broad.mit.edu	37	chr6	56471280	56471280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccagtgactgtccattcaCcttatctgagccaacaggat	10	12	7	12	0	2	2	1	2	1	0	4	3	4	3	4	1	2	0	4	1	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:56471280C>A	ENST00000370754.5	-	39	8046	c.8047G>T	c.(8047-8049)Gtg>Ttg	p.V2683L	DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.V2505L|DST_ENST00000446842.2_Missense_Mutation_p.V2179L|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.V2505L|DST_ENST00000312431.6_Missense_Mutation_p.V2505L			Q03001	DYST_HUMAN	dystonin	2505					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTCCATTCACCTTATCTGAG	0.373													11	56					2.80697e-09	3.38314e-09	1	0	A	56471280	C	A	56471280	3	1	80	1	0	0	0	0	1	0	0	0	4819	522	18	4		4	DST	6	56471280	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	4543894	56471280	114643787	221	15349											
ZNF451	26036	broad.mit.edu	37	chr6	57012801	57012801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatagatacagctgtgctCactgcagaaagccttttcat	11	13	7	10	0	3	2	3	0	0	2	3	2	3	2	1	0	5	3	1	0	3	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:57012801C>T	ENST00000370706.4	+	10	2162	c.1918C>T	c.(1918-1920)Cac>Tac	p.H640Y	ZNF451_ENST00000357489.3_Missense_Mutation_p.H640Y|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.H640Y|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAGCTGTGCTCACTGCAGAAA	0.398													31	105					0	0	0	0	T	57012801	C	T	57012801	3	4	80	1	0	0	0	0	1	0	0	0	18017	826	29	2	1956	2	ZNF451	6	57012801	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	541521	57012801	114102266	222	15350											
BAI3	577	broad.mit.edu	37	chr6	69653751	69653751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgggaggaatggtcaccaTggagtttatgttcatttaca	11	14	11	5	0	2	0	2	0	0	0	2	3	2	3	1	4	1	2	1	4	4	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:69653751T>C	ENST00000370598.1	+	6	1881	c.1060T>C	c.(1060-1062)Tgg>Cgg	p.W354R		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	354	TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATGGTCACCATGGAGTTTATG	0.413													51	148					0	0	0	0	C	69653751	T	C	69653751	3	2	80	1	0	0	0	0	1	0	0	0	1304	1464	51	5	1074	5	BAI3	6	69653751	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	12640950	69653751	101461316	223	15351											
BAI3	577	broad.mit.edu	37	chr6	69703837	69703837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagggcaagttacatccctGcatctgatggtgtccaggta	11	10	11	9	0	1	1	0	1	1	0	3	1	3	1	2	3	2	4	2	3	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:69703837G>T	ENST00000370598.1	+	11	2733	c.1912G>T	c.(1912-1914)Gca>Tca	p.A638S		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	638					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTACATCCCTGCATCTGATGG	0.453													24	68					4.4004e-07	4.99682e-07	1	0	T	69703837	G	T	69703837	3	4	80	1	0	0	0	0	1	0	0	0	1304	1319	46	4	1946	4	BAI3	6	69703837	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	50086	69703837	101411230	224	15352											
MYO6	4646	broad.mit.edu	37	chr6	76624544	76624544	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atacaggtaaggacgacatgGagatgtgtgagctgaatctt	13	10	13	5	1	1	3	0	2	1	1	1	6	1	4	0	3	2	2	0	3	3	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:76624544G>T	ENST00000369981.3	+	35	3955	c.3676G>T	c.(3676-3678)Gag>Tag	p.E1226*	MYO6_ENST00000369977.3_Nonsense_Mutation_p.E1225*|MYO6_ENST00000369985.4_Nonsense_Mutation_p.E1202*|MYO6_ENST00000369975.1_Nonsense_Mutation_p.E1193*			Q9UM54	MYO6_HUMAN	myosin VI	1234					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGACGACATGGAGATGTGTGA	0.448													11	60					2.80697e-09	3.38314e-09	1	0	T	76624544	G	T	76624544	4	4	80	1	0	0	0	0	0	1	0	0	10151	1175	41	2	3807	2	MYO6	6	76624544	Nonsense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	6920707	76624544	94490523	225	15353											
IMPG1	3617	broad.mit.edu	37	chr6	76715168	76715168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattttgttggaatcaaaaGacaggaggtcacttgcaggg	13	10	12	6	0	2	1	2	0	0	1	2	3	2	3	0	4	1	2	0	4	4	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:76715168G>T	ENST00000369950.3	-	10	1160	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	324	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGAATCAAAAGACAGGAGGTC	0.453													26	108					1.1804e-14	1.60581e-14	1	0	T	76715168	G	T	76715168	3	4	80	1	0	0	0	0	1	0	0	0	7781	942	33	2	1454	2	IMPG1	6	76715168	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	90624	76715168	94399899	226	15354											
HTR1E	3354	broad.mit.edu	37	chr6	87725859	87725859	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggatcccccccttcgaCaatgatctagatcacccagg	11	8	7	15	1	3	2	2	1	1	1	5	4	4	3	4	2	0	0	4	2	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:87725859C>A	ENST00000305344.4	+	2	1510	c.807C>A	c.(805-807)gaC>gaA	p.D269E	HTR1E_ENST00000369584.1_Missense_Mutation_p.D269E	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	269					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CCCCCTTCGACAATGATCTAG	0.502													67	218					4.67498e-28	7.4691e-28	1	0	A	87725859	C	A	87725859	3	1	80	1	0	0	0	0	1	0	0	0	7492	477	17	4	809	4	HTR1E	6	87725859	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	11010691	87725859	83389208	227	15355											
GABRR1	2569	broad.mit.edu	37	chr6	89888653	89888653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaggccagggtcagctGcaccatcatcctgtcgggct	6	9	12	14	1	3	1	2	1	1	0	5	1	4	1	3	3	2	3	3	3	0	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:89888653G>T	ENST00000435811.1	-	9	1679	c.1225C>A	c.(1225-1227)Cag>Aag	p.Q409K	GABRR1_ENST00000454853.2_Missense_Mutation_p.Q426K|GABRR1_ENST00000369451.3_Missense_Mutation_p.Q339K	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	426					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGGGTCAGCTGCACCATCATC	0.542													29	155					8.16721e-17	1.14274e-16	1	0	T	89888653	G	T	89888653	3	4	80	1	0	0	0	0	1	0	0	0	6224	1328	46	4	167	4	GABRR1	6	89888653	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2162794	89888653	81226414	228	15356											
MDN1	23195	broad.mit.edu	37	chr6	90383950	90383950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaggtgatcctgtttccGcatccggcaaccagagggca	10	7	11	13	2	0	2	0	1	0	1	3	2	3	2	5	3	1	4	5	3	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:90383950G>A	ENST00000369393.3	-	79	13235	c.13120C>T	c.(13120-13122)Cgg>Tgg	p.R4374W	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.R4374W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4374					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTGTTTCCGCATCCGGCAA	0.463													21	72					0	0	0	0	A	90383950	G	A	90383950	3	1	80	1	0	0	0	0	1	0	0	0	9484	1086	38	1	3766	1	MDN1	6	90383950	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	495297	90383950	80731117	229	15357											
MDN1	23195	broad.mit.edu	37	chr6	90402372	90402372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagacttcaccgagcaCaaagtgtctgcatgagcata	12	9	8	12	1	3	2	2	1	1	1	4	3	4	2	2	0	3	3	2	0	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:90402372C>A	ENST00000369393.3	-	63	10492	c.10377G>T	c.(10375-10377)ttG>ttT	p.L3459F	MDN1_ENST00000428876.1_Missense_Mutation_p.L3459F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3459					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCACCGAGCACAAAGTGTCTG	0.587													39	156					1.04594e-18	1.51276e-18	1	0	A	90402372	C	A	90402372	3	1	80	1	0	0	0	0	1	0	0	0	9484	477	17	4	6573	4	MDN1	6	90402372	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	18422	90402372	80712695	230	15358											
MDN1	23195	broad.mit.edu	37	chr6	90402456	90402456	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgtggccagggtccccagCctgtctgcaccaaccatact	7	8	10	16	0	1	0	0	0	1	0	2	0	2	0	6	2	4	2	6	2	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:90402456C>T	ENST00000369393.3	-	63	10408	c.10293G>A	c.(10291-10293)agG>agA	p.R3431R	MDN1_ENST00000428876.1_Silent_p.R3431R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3431					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGGTCCCCAGCCTGTCTGCAC	0.582													29	71					0	0	0	0	T	90402456	C	T	90402456	2	4	80	1	0	0	0	0	0	0	0	1	9484	738	26	4		4	MDN1	6	90402456	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	84	90402456	80712611	231	15359											
RFX6	222546	broad.mit.edu	37	chr6	117215197	117215197	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagcagtgcatattaccActccgtttattctggaaagg	12	11	10	8	1	1	1	0	0	1	1	2	3	2	2	2	2	3	3	2	2	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:117215197A>T	ENST00000332958.2	+	5	630	c.614A>T	c.(613-615)cAc>cTc	p.H205L	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	205					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCATATTACCACTCCGTTTAT	0.393													38	140					0	0	0	0	T	117215197	A	T	117215197	3	4	80	1	0	0	0	0	1	0	0	0	13349	159	6	5	632	5	RFX6	6	117215197	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	26812741	117215197	53899870	232	15360											
RSPO3	84870	broad.mit.edu	37	chr6	127471641	127471641	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaaaagtggattttacttAcaccttggaaagtgccttga	12	14	9	6	0	0	1	0	1	0	0	0	3	0	3	2	2	3	1	2	2	5	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:127471641A>G	ENST00000356698.4	+	3	949	c.360A>G	c.(358-360)ttA>ttG	p.L120L	RSPO3_ENST00000368317.3_Silent_p.L120L|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	120						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GATTTTACTTACACCTTGGAA	0.368													17	112					0	0	0	0	G	127471641	A	G	127471641	2	3	80	1	0	0	0	0	0	0	0	1	13796	388	14	5		5	RSPO3	6	127471641	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08	10256444	127471641	43643426	233	15361											
THEMIS	387357	broad.mit.edu	37	chr6	128134032	128134032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaaccatagccttaccttgGgagacttgggcaggtctacc	11	9	10	11	0	1	1	0	0	1	1	1	2	1	1	4	3	4	1	4	3	5	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:128134032G>A	ENST00000368250.1	-	5	2015	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L	THEMIS_ENST00000368248.2_Missense_Mutation_p.P585L|THEMIS_ENST00000543064.1_Missense_Mutation_p.P585L|THEMIS_ENST00000537166.1_Missense_Mutation_p.P550L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	585	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCTTACCTTGGGAGACTTGGG	0.463													82	276					0	0	0	0	A	128134032	G	A	128134032	3	1	80	1	0	0	0	0	1	0	0	0	15954	1232	43	4	304	4	THEMIS	6	128134032	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	662391	128134032	42981035	234	15362											
LAMA2	3908	broad.mit.edu	37	chr6	129371138	129371138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgtggagaaaaaggacCtgaaatgtactgcaaattgg	17	8	11	5	0	0	2	0	1	0	1	0	4	0	3	1	3	3	2	1	3	6	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:129371138C>A	ENST00000421865.2	+	2	237	c.188C>A	c.(187-189)cCt>cAt	p.P63H		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	63	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAAAAAGGACCTGAAATGTAC	0.448													28	82					1.12875e-08	1.3393e-08	1	0	A	129371138	C	A	129371138	3	1	80	1	0	0	0	0	1	0	0	0	8659	681	24	4	194	4	LAMA2	6	129371138	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1237106	129371138	41743929	235	15363											
L3MBTL3	84456	broad.mit.edu	37	chr6	130381238	130381238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcatgaaattagaaggcGtggatcctgagcatcagtct	11	11	12	7	1	2	3	1	2	1	1	3	4	3	4	1	3	1	2	1	3	3	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:130381238G>T	ENST00000529410.1	+	12	1296	c.817G>T	c.(817-819)Gtg>Ttg	p.V273L	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.V273L|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.V248L|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.V248L|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.V273L|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.V248L			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	273					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ATTAGAAGGCGTGGATCCTGA	0.398													18	64					5.35356e-11	6.81092e-11	1	0	T	130381238	G	T	130381238	3	4	80	1	0	0	0	0	1	0	0	0	8646	1145	40	3	847	3	L3MBTL3	6	130381238	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1010100	130381238	40733829	236	15364											
L3MBTL3	84456	broad.mit.edu	37	chr6	130392248	130392248	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcctggtacattttgacaActgggatgagagctatgact	10	14	10	7	0	0	3	0	3	0	1	1	5	1	4	1	2	3	2	1	2	3	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:130392248A>G	ENST00000529410.1	+	15	1699	c.1220A>G	c.(1219-1221)aAc>aGc	p.N407S	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.N407S|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.N382S|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.N382S|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.N407S|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.N382S			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	407					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CATTTTGACAACTGGGATGAG	0.368													64	223					0	0	0	0	G	130392248	A	G	130392248	3	3	80	1	0	0	0	0	1	0	0	0	8646	43	2	5	1262	5	L3MBTL3	6	130392248	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	11010	130392248	40722819	237	15365											
SAMD3	154075	broad.mit.edu	37	chr6	130535556	130535556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttcagtccttgagtgttCtgcttgtattttttaattaa	8	20	7	6	0	2	1	1	1	1	0	3	2	3	1	1	0	1	3	1	0	3	9			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:130535556C>G	ENST00000532763.1	-	3	324	c.195G>C	c.(193-195)caG>caC	p.Q65H	SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000457563.2_Missense_Mutation_p.Q89H|SAMD3_ENST00000324172.6_Missense_Mutation_p.Q65H|SAMD3_ENST00000439090.2_Missense_Mutation_p.Q65H|SAMD3_ENST00000437477.2_Missense_Mutation_p.Q65H|SAMD3_ENST00000368134.2_Missense_Mutation_p.Q65H			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	65	SAM.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CTTGAGTGTTCTGCTTGTATT	0.448													65	202					0	0	0	0	G	130535556	C	G	130535556	3	3	80	1	0	0	0	0	1	0	0	0	13905	912	32	2	1419	2	SAMD3	6	130535556	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	143308	130535556	40579511	238	15366											
CTGF	1490	broad.mit.edu	37	chr6	132271472	132271472	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtttggtccttgggctcGtcacacacccactcctcgca	6	10	9	16	3	1	0	1	0	0	0	5	0	3	0	3	3	0	3	3	3	0	2	rs139453995		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:132271472G>A	ENST00000367976.3	-	3	701	c.501C>T	c.(499-501)gaC>gaT	p.D167D		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	167	VWFC.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CCTTGGGCTCGTCACACACCC	0.632											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	160					0	0	0	0	A	132271472	G	A	132271472	2	1	80	1	0	0	0	0	0	0	0	1	4040	1136	40	1		1	CTGF	6	132271472	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1735916	132271472	38843595	239	15367											
TAAR1	134864	broad.mit.edu	37	chr6	132966320	132966320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aataatgtagtgaagaaaagGgtccatgactgtacagataa	18	9	10	4	0	0	4	0	2	0	2	1	4	1	4	1	1	1	2	1	1	8	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:132966320G>T	ENST00000275216.1	-	1	822	c.823C>A	c.(823-825)Cct>Act	p.P275T		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	275						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	TGAAGAAAAGGGTCCATGACT	0.368													21	95					1.50039e-11	1.94118e-11	1	0	T	132966320	G	T	132966320	3	4	80	1	0	0	0	0	1	0	0	0	15580	1232	43	4	200	4	TAAR1	6	132966320	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	694848	132966320	38148747	240	15368											
STXBP5	134957	broad.mit.edu	37	chr6	147655334	147655334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagggactgttgttccagagGatcgctgcaaatctccaacc	11	9	10	11	1	1	1	0	0	1	1	4	3	2	3	3	2	2	4	3	2	3	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:147655334G>A	ENST00000367481.3	+	19	2230	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	STXBP5_ENST00000367480.3_Missense_Mutation_p.D708N|STXBP5_ENST00000321680.6_Missense_Mutation_p.D708N|STXBP5_ENST00000179882.6_Missense_Mutation_p.D379N	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	708					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGTTCCAGAGGATCGCTGCAA	0.328													26	76					0	0	0	0	A	147655334	G	A	147655334	3	1	80	1	0	0	0	0	1	0	0	0	15446	1174	41	2	2196	2	STXBP5	6	147655334	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	14689014	147655334	23459733	241	15369											
SYNE1	23345	broad.mit.edu	37	chr6	152708424	152708424	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggttgtaagggatgtTctattttttgatccactgat	7	18	11	5	0	1	2	0	2	1	0	2	3	2	3	1	2	0	4	1	2	2	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:152708424T>A	ENST00000367255.5	-	54	8871	c.8270A>T	c.(8269-8271)gAa>gTa	p.E2757V	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2796V|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2764V|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2757V|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2764V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2757					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAAGGGATGTTCTATTTTTTG	0.458										HNSCC(10;0.0054)			41	145					0	0	0	0	A	152708424	T	A	152708424	3	1	80	1	0	0	0	0	1	0	0	0	15536	1783	62	5	18568	5	SYNE1	6	152708424	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	5053090	152708424	18406643	242	15370											
TIAM2	26230	broad.mit.edu	37	chr6	155450864	155450864	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaacgctggggaagctGgatgggtgtttaagggtcga	11	9	16	5	2	1	0	1	0	0	0	2	3	1	2	0	5	2	3	0	5	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:155450864G>T	ENST00000461783.3	+	6	1780	c.507G>T	c.(505-507)ctG>ctT	p.L169L	TIAM2_ENST00000360366.4_Silent_p.L169L|TIAM2_ENST00000529824.2_Silent_p.L169L|TIAM2_ENST00000318981.5_Silent_p.L169L|TIAM2_ENST00000456144.1_Silent_p.L169L|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	169					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGGGGAAGCTGGATGGGTGTT	0.587													17	68					2.39187e-15	3.27334e-15	1	0	T	155450864	G	T	155450864	2	4	80	1	0	0	0	0	0	0	0	1	15985	1335	47	4		4	TIAM2	6	155450864	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2742440	155450864	15664203	243	15371											
TULP4	56995	broad.mit.edu	37	chr6	158914657	158914658	+	Frame_Shift_Del	DEL	CT	CT	-																															tgccccgggctgctcaggagCtctcccggtccccacggttg																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:158914657_158914658delCT	ENST00000367097.3	+	10	3041_3042	c.1684_1685delCT	c.(1684-1686)cfs	p.L562fs	TULP4_ENST00000367094.2_Frame_Shift_Del_p.L562fs	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	562					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGCTCAGGAGCTCTCCCGGTCC	0.649													24	63	---	---	---	---					-	158914658	CT	-	158914657	7	5	80	1	0	1	0	1	0	0	0	0	16872	797	28	0	1722	0	TULP4	6	158914657	Frame_Shift_Del	DEL	CT	TCGA-CN-5360-01A-01D-1434-08	3463793	158914657	12200410	244	15372											
FNDC1	84624	broad.mit.edu	37	chr6	159660563	159660563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcagatctggaagggaccCccgtggtgagtcctgacggc	7	9	14	11	2	2	3	1	2	1	1	3	5	3	5	3	4	0	0	3	4	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:159660563C>A	ENST00000297267.9	+	14	4395	c.4195C>A	c.(4195-4197)Ccc>Acc	p.P1399T	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1336T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1399						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGAAGGGACCCCCGTGGTGAG	0.483													3	11					0.004672	0.00483383	1	0	A	159660563	C	A	159660563	3	1	80	1	0	0	0	0	1	0	0	0	6013	623	22	4	4249	4	FNDC1	6	159660563	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	745906	159660563	11454504	245	15373											
SMOC2	64094	broad.mit.edu	37	chr6	169064781	169064781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtcatgctgaaagtacgtCtaatagacaggtaagtatgt	14	11	11	5	1	2	2	1	1	1	1	2	2	2	2	0	2	2	4	0	2	6	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:169064781C>T	ENST00000354536.5	+	12	1566	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F	SMOC2_ENST00000477998.1_3'UTR|SMOC2_ENST00000356284.2_Missense_Mutation_p.S438F	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	438					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GAAAGTACGTCTAATAGACAG	0.294													18	55					0	0	0	0	T	169064781	C	T	169064781	3	4	80	1	0	0	0	0	1	0	0	0	14890	913	32	2	1392	2	SMOC2	6	169064781	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	9404218	169064781	2050286	246	15374											
RSPH10B2	728194	broad.mit.edu	37	chr7	6838029	6838029	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgagagaggaagaggccaAgagacatgactatgaggtgg	14	6	16	5	0	0	6	0	3	0	3	0	9	0	7	1	4	0	0	1	4	3	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:6838029A>G	ENST00000403107.1	+	20	2855	c.2468A>G	c.(2467-2469)aAg>aGg	p.K823R	RSPH10B2_ENST00000404077.1_Missense_Mutation_p.K823R|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.K823R|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.K823R|RSPH10B2_ENST00000359718.3_3'UTR|CCZ1B_ENST00000316731.8_3'UTR					radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GAAGAGGCCAAGAGACATGAC	0.483													18	125					0	0	0	0	G	6838029	A	G	6838029	3	3	80	1	0	0	0	0	1	0	0	0	13789	72	3	5	5231	5	RSPH10B2	7	6838029	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08		6838029	152300634	247	15375											
THSD7A	221981	broad.mit.edu	37	chr7	11416278	11416278	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtaaacccaggtctttagtCtcccatctaagaagaatgga	13	10	8	10	1	3	2	0	0	3	2	4	3	3	3	2	2	1	1	2	2	6	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:11416278C>G	ENST00000423059.3	-	27	5059	c.4808G>C	c.(4807-4809)aGa>aCa	p.R1603T	AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1603						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGTCTTTAGTCTCCCATCTAA	0.353										HNSCC(18;0.044)			4	8					0	0	0	0	G	11416278	C	G	11416278	3	3	80	1	0	0	0	0	1	0	0	0	15973	913	32	2	173	2	THSD7A	7	11416278	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	4578249	11416278	147722385	248	15376											
ABCB5	340273	broad.mit.edu	37	chr7	20762764	20762764	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtattgctccagtacttgcCgtgacaggaatgattgaaac	12	11	10	8	1	0	3	0	3	0	0	1	4	1	4	2	1	4	3	2	1	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:20762764C>T	ENST00000404938.2	+	21	3199	c.2547C>T	c.(2545-2547)gcC>gcT	p.A849A	ABCB5_ENST00000258738.6_Silent_p.A404A	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	404					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGTACTTGCCGTGACAGGAA	0.388													33	94					0	0	0	0	T	20762764	C	T	20762764	2	4	80	1	0	0	0	0	0	0	0	1	44	639	23	1		1	ABCB5	7	20762764	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	9346486	20762764	138375899	249	15377											
CHN2	1124	broad.mit.edu	37	chr7	29539573	29539573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaagaaagtgtactgttGtgacctcacaacacttgtga	13	11	9	8	0	2	3	2	2	0	1	2	4	2	3	1	0	2	2	1	0	4	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:29539573G>T	ENST00000222792.6	+	9	1360	c.830G>T	c.(829-831)tGt>tTt	p.C277F	CHN2_ENST00000435288.2_Intron|CHN2_ENST00000421775.2_Intron|CHN2_ENST00000439711.2_Missense_Mutation_p.C141F|CHN2_ENST00000424025.2_Missense_Mutation_p.C96F|CHN2_ENST00000546235.1_Missense_Mutation_p.C262F|CHN2_ENST00000539389.1_Missense_Mutation_p.C133F|CHN2_ENST00000539406.1_Missense_Mutation_p.C352F|CHN2_ENST00000495789.2_Missense_Mutation_p.C290F|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000409041.4_Missense_Mutation_p.C141F	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	277	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GTGTACTGTTGTGACCTCACA	0.443													13	46					2.27111e-07	2.58748e-07	1	0	T	29539573	G	T	29539573	3	4	80	1	0	0	0	0	1	0	0	0	3392	1377	48	4	1032	4	CHN2	7	29539573	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	8776809	29539573	129599090	250	15378											
NEUROD6	63974	broad.mit.edu	37	chr7	31378419	31378419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaatgtgagcagatctggtCtcttgccgattctcagaatt	9	13	10	9	2	3	3	1	1	3	2	5	5	3	3	1	1	2	1	1	1	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:31378419C>T	ENST00000297142.3	-	2	786	c.464G>A	c.(463-465)aGa>aAa	p.R155K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	155					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CAGATCTGGTCTCTTGCCGAT	0.458													19	88					0	0	0	0	T	31378419	C	T	31378419	3	4	80	1	0	0	0	0	1	0	0	0	10421	913	32	2	553	2	NEUROD6	7	31378419	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1838846	31378419	127760244	251	15379											
PSMA2	5683	broad.mit.edu	37	chr7	42966149	42966149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtacctgtaatcggggccCatgccactgtacaccaaacc	12	7	8	14	1	0	0	0	0	0	0	1	0	0	0	5	2	4	3	5	2	5	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:42966149C>A	ENST00000442788.1	-	3	252	c.237G>T	c.(235-237)atG>atT	p.M79I	PSMA2_ENST00000445517.1_Intron|PSMA2_ENST00000538645.1_Start_Codon_SNP_p.M1I|PSMA2_ENST00000223321.4_Missense_Mutation_p.M79I			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	79					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						AATCGGGGCCCATGCCACTGT	0.368													26	71					2.48779e-11	3.21262e-11	1	0	A	42966149	C	A	42966149	3	1	80	1	0	0	0	0	1	0	0	0	12746	594	21	4	491	4	PSMA2	7	42966149	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	11587730	42966149	116172514	252	15380											
OGDH	4967	broad.mit.edu	37	chr7	44736099	44736100	+	Frame_Shift_Del	DEL	AC	AC	-																															gtctgacggaggatattctgAcacacatcgggaatgtggct																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:44736099_44736100delAC	ENST00000222673.5	+	14	1885_1886	c.1843_1844delAC	c.(1843-1845)afs	p.T615fs	OGDH_ENST00000449767.1_Frame_Shift_Del_p.T611fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.T626fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.T566fs|OGDH_ENST00000439616.2_Frame_Shift_Del_p.T465fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.T630fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	615					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GGATATTCTGACACACATCGGG	0.545													21	60	---	---	---	---					-	44736100	AC	-	44736099	7	5	80	1	0	1	0	1	0	0	0	0	10910	275	10	0	2066	0	OGDH	7	44736099	Frame_Shift_Del	DEL	AC	TCGA-CN-5360-01A-01D-1434-08	1769950	44736099	114402564	253	15381											
MYO1G	64005	broad.mit.edu	37	chr7	45004594	45004594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggcagccccagtcctgacGaagcccttgcagggccccca	7	5	11	18	2	0	1	0	1	0	0	2	2	1	1	6	2	3	2	6	2	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:45004594G>A	ENST00000258787.7	-	18	2612	c.2476C>T	c.(2476-2478)Cgt>Tgt	p.R826C		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	826						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CAGTCCTGACGAAGCCCTTGC	0.677													31	98					0	0	0	0	A	45004594	G	A	45004594	3	1	80	1	0	0	0	0	1	0	0	0	10144	1058	37	1	600	1	MYO1G	7	45004594	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	268495	45004594	114134069	254	15382											
UPP1	7378	broad.mit.edu	37	chr7	48141563	48141563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgtataaagtaggacCggtgctgtctgtcagtgtga	9	12	13	7	1	2	1	1	1	1	0	2	2	2	2	2	2	2	3	2	2	4	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:48141563C>T	ENST00000331803.4	+	6	928	c.305C>T	c.(304-306)cCg>cTg	p.P102L	UPP1_ENST00000482015.1_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.P102L|UPP1_ENST00000395564.4_Missense_Mutation_p.P102L|UPP1_ENST00000429491.2_Intron			Q16831	UPP1_HUMAN	uridine phosphorylase 1	102					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						AAAGTAGGACCGGTGCTGTCT	0.572													28	64					0	0	0	0	T	48141563	C	T	48141563	3	4	80	1	0	0	0	0	1	0	0	0	17108	652	23	1	315	1	UPP1	7	48141563	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	3136969	48141563	110997100	255	15383											
STAG3L4	64940	broad.mit.edu	37	chr7	66774209	66774215	+	RNA	DEL	TACCTGT	TACCTGT	-																															tgattcagggtcttctttccTacctgtgtcttggctcttca																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:66774209_66774215delTACCTGT	ENST00000416602.2	+	0	567					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TCTTCTTTCCTACCTGTGTCTTGGCTC	0.449													12	17	---	---	---	---					-	66774215	TACCTGT	-	66774209	6	5	80	0	1	1	0	1	0	0	0	0	15337	1537	53	0		0	STAG3L4	7	66774209	RNA	DEL	TACCTGT	TCGA-CN-5360-01A-01D-1434-08	18632646	66774209	92364454	256	15384											
WBSCR17	64409	broad.mit.edu	37	chr7	70881051	70881051	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaattcaccgctggctggTaggtcatgagctgaaactca	10	10	12	9	1	3	2	3	2	0	0	3	3	3	3	1	4	2	4	1	4	3	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:70881051T>C	ENST00000333538.5	+	4	1398		c.e4+2		WBSCR17_ENST00000498380.2_Splice_Site	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CGCTGGCTGGTAGGTCATGAG	0.582													8	78					0	0	0	0	C	70881051	T	C	70881051	5	2	80	1	0	0	0	0	0	0	1	0	17360	1652	57	5	780	5	WBSCR17	7	70881051	Splice_Site	SNP	T	TCGA-CN-5360-01A-01D-1434-08	4106842	70881051	88257612	257	15385											
PCLO	27445	broad.mit.edu	37	chr7	82579581	82579581	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtttgtacaccactgtcCactatctttttaaaacttcg	9	16	4	12	2	1	0	0	0	1	0	4	0	3	0	3	0	2	2	3	0	4	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:82579581C>A	ENST00000423517.2	-	6	10660	c.10323G>T	c.(10321-10323)gtG>gtT	p.V3441V	PCLO_ENST00000437081.1_Silent_p.V161V|PCLO_ENST00000333891.8_Silent_p.V3441V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3372					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACCACTGTCCACTATCTTTT	0.433													65	81					9.40535e-28	1.49918e-27	1	0	A	82579581	C	A	82579581	2	1	80	1	0	0	0	0	0	0	0	1	11654	581	21	4		4	PCLO	7	82579581	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	11698530	82579581	76559082	258	15386											
ZNF804B	219578	broad.mit.edu	37	chr7	88963725	88963725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtatctcttatggctgcaacCcactgtattttgattttaag	9	17	7	8	0	1	1	0	1	1	0	2	1	1	1	1	1	2	4	1	1	5	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:88963725C>A	ENST00000333190.4	+	4	2038	c.1429C>A	c.(1429-1431)Cca>Aca	p.P477T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	477						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGGCTGCAACCCACTGTATTT	0.428										HNSCC(36;0.09)			56	43					4.33383e-22	6.5725e-22	1	0	A	88963725	C	A	88963725	3	1	80	1	0	0	0	0	1	0	0	0	18264	623	22	4	1443	4	ZNF804B	7	88963725	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	6384144	88963725	70174938	259	15387											
AKAP9	10142	broad.mit.edu	37	chr7	91730192	91730192	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccaggttttcattgaatgGtggtgccaacattgaagcca	10	13	10	8	0	1	2	1	2	0	0	2	2	2	2	3	3	3	1	3	3	3	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:91730192G>C	ENST00000359028.2	+	45	11156	c.10931G>C	c.(10930-10932)gGt>gCt	p.G3644A	AKAP9_ENST00000358100.2_Missense_Mutation_p.G3590A|AKAP9_ENST00000356239.3_Missense_Mutation_p.G3640A			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3644					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCATTGAATGGTGGTGCCAAC	0.393			T	BRAF	papillary thyroid								109	128					0	0	0	0	C	91730192	G	C	91730192	3	2	80	1	0	0	0	0	1	0	0	0	459	1261	44	4	11097	4	AKAP9	7	91730192	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2766467	91730192	67408471	260	15388											
COL1A2	1278	broad.mit.edu	37	chr7	94049949	94049949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacaggccccgttggagctGctggcccagctgtaagttga	7	8	13	13	1	0	1	0	1	0	0	0	2	0	2	4	3	3	6	4	3	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:94049949G>T	ENST00000297268.6	+	37	2755	c.2284G>T	c.(2284-2286)Gct>Tct	p.A762S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	762			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CGTTGGAGCTGCTGGCCCAGC	0.512										HNSCC(75;0.22)			4	8					0.00909568	0.00931257	1	0	T	94049949	G	T	94049949	3	4	80	1	0	0	0	0	1	0	0	0	3708	1319	46	4	2430	4	COL1A2	7	94049949	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2319757	94049949	65088714	261	15389											
PON1	5444	broad.mit.edu	37	chr7	94931576	94931576	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgccattgggatggcAtccaacccaaaggtctcctg	9	11	9	12	0	2	0	1	0	1	0	4	1	3	1	4	3	2	1	4	3	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:94931576A>T	ENST00000222381.3	-	8	1081	c.850T>A	c.(850-852)Tgc>Agc	p.C284S	PON1_ENST00000542556.1_Missense_Mutation_p.C284S	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	284					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TTGGGATGGCATCCAACCCAA	0.388													58	59					0	0	0	0	T	94931576	A	T	94931576	3	4	80	1	0	0	0	0	1	0	0	0	12320	217	8	5	225	5	PON1	7	94931576	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	881627	94931576	64207087	262	15390											
DLX5	1749	broad.mit.edu	37	chr7	96650323	96650323	+	Missense_Mutation	SNP	C	C	A																															gtgctccgggggcatctcccCgtttttcatgatcttcttga																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:96650323C>A	ENST00000222598.4	-	3	1068	c.595G>T	c.(595-597)Ggg>Tgg	p.G199W	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	199					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGCATCTCCCCGTTTTTCATG	0.572													16	96					5.35267e-07	6.05813e-07	1	0	A	96650323	C	A	96650323	3	1	80	1	0	0	0	0	1	0	0	0	4611	652	23	3	278	3	DLX5	7	96650323	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1718747	96650323	62488340	263	15391	131	2									
DLX5	1749	broad.mit.edu	37	chr7	96650324	96650324	+	Silent	SNP	G	G	A																															tgctccgggggcatctccccGtttttcatgatcttcttgat																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:96650324G>A	ENST00000222598.4	-	3	1067	c.594C>T	c.(592-594)aaC>aaT	p.N198N	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	198					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GCATCTCCCCGTTTTTCATGA	0.572													17	94					0	0	0	0	A	96650324	G	A	96650324	2	1	80	1	0	0	0	0	0	0	0	1	4611	1136	40	1		1	DLX5	7	96650324	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1	96650324	62488339	264	15392	131	2									
LMTK2	22853	broad.mit.edu	37	chr7	97822447	97822447	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggactctcctggcgagagTgaggagaccctgcgactcac	9	6	13	13	2	2	3	1	1	1	2	3	7	2	4	2	3	1	0	2	3	0	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:97822447T>C	ENST00000297293.5	+	11	2963	c.2670T>C	c.(2668-2670)agT>agC	p.S890S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	890					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTGGCGAGAGTGAGGAGACCC	0.557													51	50					0	0	0	0	C	97822447	T	C	97822447	2	2	80	1	0	0	0	0	0	0	0	1	8914	1693	59	5		5	LMTK2	7	97822447	Silent	SNP	T	TCGA-CN-5360-01A-01D-1434-08	1172123	97822447	61316216	265	15393											
CUX1	1523	broad.mit.edu	37	chr7	101892287	101892287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgcctggagaaggccGccagccgggaggaacctatc	9	4	13	15	3	0	1	0	0	0	1	2	4	1	3	7	4	2	0	7	4	3	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:101892287G>A	ENST00000360264.3	+	24	4536	c.4516G>A	c.(4516-4518)Gcc>Acc	p.A1506T	CUX1_ENST00000549414.2_Missense_Mutation_p.A1473T|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.A1495T|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.A1393T|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.A1439T|CUX1_ENST00000556210.1_Missense_Mutation_p.A1337T|CUX1_ENST00000560541.1_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1495					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGAGAAGGCCGCCAGCCGGGA	0.726													6	9					0	0	0	0	A	101892287	G	A	101892287	3	1	80	1	0	0	0	0	1	0	0	0	4096	1087	38	1	4644	1	CUX1	7	101892287	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	4069840	101892287	57246376	266	15394											
RINT1	60561	broad.mit.edu	37	chr7	105190713	105190713	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtatttttttagcttgaAttttctcggggccttatgat	6	21	9	5	1	1	2	0	2	1	0	2	2	1	2	1	2	1	2	1	2	4	9			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:105190713A>G	ENST00000257700.2	+	9	1344	c.1113A>G	c.(1111-1113)gaA>gaG	p.E371E		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	371	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTAGCTTGAATTTTCTCGGG	0.363													166	188					0	0	0	0	G	105190713	A	G	105190713	2	3	80	1	0	0	0	0	0	0	0	1	13461	98	4	5		5	RINT1	7	105190713	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08	3298426	105190713	53947950	267	15395											
NAMPT	10135	broad.mit.edu	37	chr7	105909600	105909600	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggtttcagttacttacCtcttgggaagagactcctct	7	15	10	9	0	3	1	1	0	2	1	4	3	4	2	2	3	2	3	2	3	3	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:105909600C>A	ENST00000222553.3	-	5	913	c.606_splice	c.e5+1	p.E202_splice	NAMPT_ENST00000354289.4_Splice_Site_p.E202_splice|NAMPT_ENST00000484527.1_Intron	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	202					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						AGTTACTTACCTCTTGGGAAG	0.358													55	67					3.93605e-18	5.64524e-18	1	0	A	105909600	C	A	105909600	5	1	80	1	0	0	0	0	0	0	1	0	10219	695	24	4	897	4	NAMPT	7	105909600	Splice_Site	SNP	C	TCGA-CN-5360-01A-01D-1434-08	718887	105909600	53229063	268	15396											
HBP1	26959	broad.mit.edu	37	chr7	106822945	106822945	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatacctcagacataccAgaaactacttaccgtgaaaa	19	7	4	11	1	1	3	1	1	0	2	1	3	1	3	3	0	5	0	3	0	9	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:106822945A>G	ENST00000222574.4	+	3	483	c.297A>G	c.(295-297)ccA>ccG	p.P99P	HBP1_ENST00000468410.1_Silent_p.P99P|HBP1_ENST00000485846.1_Silent_p.P99P	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	99					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CAGACATACCAGAAACTACTT	0.423													49	71					0	0	0	0	G	106822945	A	G	106822945	2	3	80	1	0	0	0	0	0	0	0	1	7035	175	7	5		5	HBP1	7	106822945	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08	913345	106822945	52315718	269	15397											
WNT2	7472	broad.mit.edu	37	chr7	116955239	116955239	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccatagtcaatgttatcActgcagccaccccaatcaaa	14	9	4	14	0	3	0	3	0	0	0	4	0	4	0	4	0	2	2	4	0	5	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:116955239A>T	ENST00000265441.3	-	3	773	c.474T>A	c.(472-474)agT>agA	p.S158R	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	158					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CAATGTTATCACTGCAGCCAC	0.473													80	109					0	0	0	0	T	116955239	A	T	116955239	3	4	80	1	0	0	0	0	1	0	0	0	17482	156	6	5	620	5	WNT2	7	116955239	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	10132294	116955239	42183424	270	15398											
IQUB	154865	broad.mit.edu	37	chr7	123104887	123104887	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagaaaaatgtagaatacCttaaggtattttgcaacttc	16	13	7	5	0	0	2	0	0	0	2	1	3	0	2	1	1	3	3	1	1	9	8			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:123104887C>A	ENST00000466202.1	-	10	2334	c.1758_splice	c.e10+1	p.K586_splice	IQUB_ENST00000434450.1_Splice_Site_p.K586_splice|IQUB_ENST00000324698.6_Splice_Site_p.K586_splice			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	586										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGTAGAATACCTTAAGGTATT	0.303													29	140					2.12542e-12	2.78126e-12	1	0	A	123104887	C	A	123104887	5	1	80	1	0	0	0	0	0	0	1	0	7873	695	24	4	633	4	IQUB	7	123104887	Splice_Site	SNP	C	TCGA-CN-5360-01A-01D-1434-08	6149648	123104887	36033776	271	15399											
IQUB	154865	broad.mit.edu	37	chr7	123152340	123152340	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaagcatcatcactctCttctgttgaattgactatat	13	15	4	9	0	5	2	3	2	2	0	6	2	5	2	0	0	1	2	0	0	5	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:123152340C>A	ENST00000466202.1	-	2	631	c.55G>T	c.(55-57)Gag>Tag	p.E19*	IQUB_ENST00000434450.1_Nonsense_Mutation_p.E19*|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Nonsense_Mutation_p.E19*			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	19										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TCATCACTCTCTTCTGTTGAA	0.348													25	147					1.96895e-08	2.32018e-08	1	0	A	123152340	C	A	123152340	4	1	80	1	0	0	0	0	0	1	0	0	7873	922	32	2	2368	2	IQUB	7	123152340	Nonsense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	47453	123152340	35986323	272	15400											
POT1	25913	broad.mit.edu	37	chr7	124499083	124499083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcagattttgtagccgatgGatgtgacttaaatcaccttc	10	14	9	8	1	2	2	2	1	0	1	3	4	2	3	2	1	1	1	2	1	3	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:124499083G>A	ENST00000357628.3	-	9	1228	c.630C>T	c.(628-630)atC>atT	p.I210I	POT1_ENST00000393329.1_Silent_p.I79I	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	210					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTAGCCGATGGATGTGACTTA	0.393													60	59					0	0	0	0	A	124499083	G	A	124499083	2	1	80	1	0	0	0	0	0	0	0	1	12332	1164	41	2		2	POT1	7	124499083	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1346743	124499083	34639580	273	15401											
KLF14	136259	broad.mit.edu	37	chr7	130418350	130418350	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggcggggcctgcccctaGggcccctccagagaacccac	6	3	15	17	1	0	1	0	0	0	1	1	2	1	1	7	5	2	0	7	5	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:130418350G>C	ENST00000310992.4	-	1	538	c.511C>G	c.(511-513)Cta>Gta	p.L171V		NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					CCTGCCCCTAGGGCCCCTCCA	0.741													4	10					0	0	0	0	C	130418350	G	C	130418350	3	2	80	1	0	0	0	0	1	0	0	0	8394	991	35	4	464	4	KLF14	7	130418350	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	5919267	130418350	28720313	274	15402											
PLXNA4	91584	broad.mit.edu	37	chr7	132193309	132193309	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaggtgattgaaaccctcGgcgggctctcctcggaatgt	8	9	12	12	3	1	2	0	2	1	0	4	3	1	3	3	4	1	1	3	4	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:132193309G>T	ENST00000359827.3	-	2	1106	c.144C>A	c.(142-144)gcC>gcA	p.A48A	PLXNA4_ENST00000321063.4_Silent_p.A48A|PLXNA4_ENST00000378539.5_Silent_p.A48A|PLXNA4_ENST00000423507.2_Silent_p.A48A			Q9HCM2	PLXA4_HUMAN	plexin A4	48	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAAACCCTCGGCGGGCTCTC	0.587													18	90					9.16793e-09	1.08968e-08	1	0	T	132193309	G	T	132193309	2	4	80	1	0	0	0	0	0	0	0	1	12194	1103	39	3		3	PLXNA4	7	132193309	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1774959	132193309	26945354	275	15403											
TRIM24	8805	broad.mit.edu	37	chr7	138261116	138261116	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatggtttccccctcctcAggacctgttactatgactag	7	14	8	12	0	1	1	1	1	0	0	3	2	3	2	4	2	1	3	4	2	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:138261116A>T	ENST00000343526.4	+	13	2229		c.e13-1		TRIM24_ENST00000415680.2_Splice_Site			O15164	TIF1A_HUMAN	tripartite motif containing 24						cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CCCCCTCCTCAGGACCTGTTA	0.423													25	130					0	0	0	0	T	138261116	A	T	138261116	5	4	80	1	0	0	0	0	0	0	1	0	16593	202	7	5	2063	5	TRIM24	7	138261116	Splice_Site	SNP	A	TCGA-CN-5360-01A-01D-1434-08	6067807	138261116	20877547	276	15404											
KIAA1549	57670	broad.mit.edu	37	chr7	138603874	138603874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaaccatccgtggagtggtCcagtgagtatctggcagaaa	12	8	13	8	1	1	2	0	1	1	1	3	4	3	3	3	3	1	2	3	3	3	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:138603874C>A	ENST00000440172.1	-	2	546	c.498G>T	c.(496-498)tgG>tgT	p.W166C	KIAA1549_ENST00000422774.1_Missense_Mutation_p.W166C|KIAA1549_ENST00000242365.4_Missense_Mutation_p.W116C	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	166						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGGAGTGGTCCAGTGAGTAT	0.498			O	BRAF	pilocytic astrocytoma								156	175					7.08382e-60	1.18987e-59	1	0	A	138603874	C	A	138603874	3	1	80	1	0	0	0	0	1	0	0	0	8295	856	30	2	5430	2	KIAA1549	7	138603874	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	342758	138603874	20534789	277	15405											
MGAM	8972	broad.mit.edu	37	chr7	141754672	141754672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cattaagaagaatccatttgGgattgaaattcgccggaaga	15	10	10	6	2	0	4	0	1	0	3	2	6	1	6	2	2	0	0	2	2	5	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:141754672G>T	ENST00000475668.2	+	27	3332	c.3278G>T	c.(3277-3279)gGg>gTg	p.G1093V	MGAM_ENST00000549489.2_Missense_Mutation_p.G1093V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1093	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATCCATTTGGGATTGAAATT	0.493													67	104					1.77791e-30	2.8672e-30	1	0	T	141754672	G	T	141754672	3	4	80	1	0	0	0	0	1	0	0	0	9610	1232	43	4	3380	4	MGAM	7	141754672	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	3150798	141754672	17383991	278	15406											
MGAM	8972	broad.mit.edu	37	chr7	141796147	141796147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggtttgtgtcagaccagGtgacatgggacatagacagt	11	9	13	8	0	1	3	1	1	0	2	1	4	1	4	2	3	0	1	2	3	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:141796147G>A	ENST00000475668.2	+	65	7678	c.7624G>A	c.(7624-7626)Gtg>Atg	p.V2542M	MGAM_ENST00000549489.2_Missense_Mutation_p.V1646M			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1646					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCAGACCAGGTGACATGGGA	0.572													47	40					0	0	0	0	A	141796147	G	A	141796147	3	1	80	1	0	0	0	0	1	0	0	0	9610	1261	44	4	5098	4	MGAM	7	141796147	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	41475	141796147	17342516	279	15407											
C7orf34	135927	broad.mit.edu	37	chr7	142636723	142636723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgggcaggtccatgcCtcccctggccccccagctct	3	8	13	17	0	1	0	0	0	1	0	3	0	3	0	7	4	2	2	7	4	0	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:142636723C>T	ENST00000409607.3	+	1	121	c.80C>T	c.(79-81)cCt>cTt	p.P27L		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	2						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					AGGTCCATGCCTCCCCTGGCC	0.662													14	60					0	0	0	0	T	142636723	C	T	142636723	3	4	80	1	0	0	0	0	1	0	0	0	2412	681	24	4	82	4	C7orf34	7	142636723	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	840576	142636723	16501940	280	15408											
KRBA1	84626	broad.mit.edu	37	chr7	149420905	149420905	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccccgaggcccaggacAggcatcccagtccctcagga	9	4	11	17	1	1	0	1	0	0	0	4	3	4	2	5	4	1	2	5	4	0	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:149420905A>T	ENST00000255992.10	+	8	1252	c.853A>T	c.(853-855)Agg>Tgg	p.R285W	KRBA1_ENST00000319551.8_Missense_Mutation_p.R285W|KRBA1_ENST00000485033.2_Missense_Mutation_p.R285W|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	285										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCCAGGACAGGCATCCCAG	0.587													13	80					0	0	0	0	T	149420905	A	T	149420905	3	4	80	1	0	0	0	0	1	0	0	0	8491	179	7	5	879	5	KRBA1	7	149420905	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	6784182	149420905	9717758	281	15409											
ZNF467	168544	broad.mit.edu	37	chr7	149462101	149462101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggtgcgacttgcggCtgaagcggcggccgcactga	6	5	17	13	5	0	2	0	2	0	0	0	3	0	2	2	5	3	2	2	5	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:149462101C>T	ENST00000302017.3	-	5	1903	c.1490G>A	c.(1489-1491)aGc>aAc	p.S497N	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGACTTGCGGCTGAAGCGGCG	0.716													8	19					0	0	0	0	T	149462101	C	T	149462101	3	4	80	1	0	0	0	0	1	0	0	0	18022	797	28	4	301	4	ZNF467	7	149462101	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	41196	149462101	9676562	282	15410											
NOS3	4846	broad.mit.edu	37	chr7	150696317	150696317	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggcctgcgctggtacgcCctcccggcagtgtccaacat	5	8	12	16	3	0	0	0	0	0	0	2	0	2	0	4	3	3	3	4	3	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:150696317C>A	ENST00000297494.3	+	9	1353	c.996C>A	c.(994-996)gcC>gcA	p.A332A	NOS3_ENST00000467517.1_Silent_p.A332A|NOS3_ENST00000461406.1_Silent_p.A126A|NOS3_ENST00000484524.1_Silent_p.A332A	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	332	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCTGGTACGCCCTCCCGGCAG	0.647													130	124					4.07488e-59	6.8279e-59	1	0	A	150696317	C	A	150696317	2	1	80	1	0	0	0	0	0	0	0	1	10614	610	22	4		4	NOS3	7	150696317	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1234216	150696317	8442346	283	15411											
AGAP3	116988	broad.mit.edu	37	chr7	150817174	150817174	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgcatcgagaccatcgctgCctcctccacccccacaccca	8	5	6	22	3	0	1	0	0	0	1	4	2	2	1	7	0	1	2	7	0	0	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:150817174C>G	ENST00000397238.2	+	8	1070	c.1070C>G	c.(1069-1071)gCc>gGc	p.A357G	AGAP3_ENST00000335367.3_Missense_Mutation_p.A537G|AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000473312.1_Missense_Mutation_p.A357G|AGAP3_ENST00000463381.1_Missense_Mutation_p.A129G	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	321	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACCATCGCTGCCTCCTCCACC	0.667													3	64					0	0	0	0	G	150817174	C	G	150817174	3	3	80	1	0	0	0	0	1	0	0	0	369	739	26	4	1100	4	AGAP3	7	150817174	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	120857	150817174	8321489	284	15412											
DPP6	1804	broad.mit.edu	37	chr7	154681206	154681206	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcagaactcattacacAactaattaggggaaaggcta	17	7	8	9	0	1	1	1	0	0	1	1	2	1	2	0	3	4	2	0	3	7	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:154681206A>G	ENST00000404039.1	+	25	2812	c.2225A>G	c.(2224-2226)cAa>cGa	p.Q742R	DPP6_ENST00000377770.3_Missense_Mutation_p.Q806R|DPP6_ENST00000332007.3_Missense_Mutation_p.Q744R|DPP6_ENST00000427557.1_Missense_Mutation_p.Q699R	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	806					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTCATTACACAACTAATTAGG	0.378													9	15					0	0	0	0	G	154681206	A	G	154681206	3	3	80	1	0	0	0	0	1	0	0	0	4766	130	5	5	2631	5	DPP6	7	154681206	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	3864032	154681206	4457457	285	15413											
DLGAP2	9228	broad.mit.edu	37	chr8	1513941	1513941	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggagttacattaaagcCatgggggacgaggagagcgg	12	6	18	5	2	0	1	0	0	0	1	0	5	0	3	1	5	3	1	1	5	3	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:1513941C>T	ENST00000421627.2	+	3	1217	c.1083C>T	c.(1081-1083)gcC>gcT	p.A361A	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	440					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACATTAAAGCCATGGGGGACG	0.572													4	19					0	0	0	0	T	1513941	C	T	1513941	2	4	80	1	0	0	0	0	0	0	0	1	4597	581	21	4		4	DLGAP2	8	1513941	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08		1513941	144850081	286	15414											
DEFB4A	1673	broad.mit.edu	37	chr8	7752250	7752250	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccatgagggtcttgtatCtcctcttctcgttcctcttc	4	16	7	14	1	5	1	0	1	5	0	9	1	6	1	3	1	1	2	3	1	1	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:7752250C>A	ENST00000302247.2	+	1	100	c.16C>A	c.(16-18)Ctc>Atc	p.L6I		NM_004942.2	NP_004933.1	O15263	DFB4A_HUMAN	defensin, beta 4A	6					chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|immune response	extracellular region				lung(1)	1						GGTCTTGTATCTCCTCTTCTC	0.527													7	111					0.000673444	0.000710685	1	0	A	7752250	C	A	7752250	3	1	80	1	0	0	0	0	1	0	0	0	4458	913	32	2	18	2	DEFB4A	8	7752250	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	6238309	7752250	138611772	287	15415											
DLC1	10395	broad.mit.edu	37	chr8	13357323	13357323	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatggctgtcattttcGtccacatcctttgaaagatg	8	15	7	11	1	2	2	2	1	0	1	5	2	4	2	3	1	0	1	3	1	1	4	rs146650078		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:13357323G>A	ENST00000276297.4	-	2	667	c.258C>T	c.(256-258)gaC>gaT	p.D86D	DLC1_ENST00000316609.5_Silent_p.D86D|DLC1_ENST00000511869.1_Silent_p.D86D	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	86					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.D86D(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGTCATTTTCGTCCACATCCT	0.443													9	362					0	0	0	0	A	13357323	G	A	13357323	2	1	80	1	0	0	0	0	0	0	0	1	4587	1136	40	1		1	DLC1	8	13357323	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	5605073	13357323	133006699	288	15416											
KIF13B	23303	broad.mit.edu	37	chr8	29025078	29025078	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtagccaccatggcggTcttgctgttacccccgaggc	7	8	11	15	2	1	0	0	0	1	0	1	1	1	0	4	3	3	3	4	3	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:29025078T>A	ENST00000524189.1	-	11	1008	c.970A>T	c.(970-972)Acc>Tcc	p.T324S	KIF13B_ENST00000521515.1_Missense_Mutation_p.T324S	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	324					microtubule-based movement|protein targeting|signal transduction|T cell activation	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)		ACCATGGCGGTCTTGCTGTTA	0.463													50	66					0	0	0	0	A	29025078	T	A	29025078	3	1	80	1	0	0	0	0	1	0	0	0	8326	1667	58	5	4630	5	KIF13B	8	29025078	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	15667755	29025078	117338944	289	15417											
FAM150A	389658	broad.mit.edu	37	chr8	53451006	53451006	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagggtagttttgctaGgtctgggagcacagtggact	8	11	14	8	0	2	0	1	0	1	0	2	2	2	2	0	4	2	4	0	4	2	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:53451006G>C	ENST00000358543.4	-	4	637	c.387C>G	c.(385-387)acC>acG	p.T129T	FAM150A_ENST00000523939.1_Intron	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	129						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				AGTTTTGCTAGGTCTGGGAGC	0.289													15	25					0	0	0	0	C	53451006	G	C	53451006	2	2	80	1	0	0	0	0	0	0	0	1	5497	987	35	4		4	FAM150A	8	53451006	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	24425928	53451006	92913016	290	15418											
OPRK1	4986	broad.mit.edu	37	chr8	54142037	54142037	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggattcaggctactgttGgtatagcctaaggcgatgca	10	11	13	7	1	1	0	1	0	0	0	1	2	1	1	1	4	3	4	1	4	4	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:54142037G>T	ENST00000265572.3	-	4	1260	c.963C>A	c.(961-963)acC>acA	p.T321T	OPRK1_ENST00000520287.1_Silent_p.T321T|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.T232T	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	321					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.T321T(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GGCTACTGTTGGTATAGCCTA	0.517													14	15					7.93312e-07	8.90532e-07	1	0	T	54142037	G	T	54142037	2	4	80	1	0	0	0	0	0	0	0	1	10956	1335	47	4		4	OPRK1	8	54142037	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	691031	54142037	92221985	291	15419											
RP1	6101	broad.mit.edu	37	chr8	55542575	55542575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acacatcattgttagttgtgGgtaatgtggattcaaataca	13	14	9	5	0	2	0	2	0	0	0	2	1	2	1	0	2	1	3	0	2	4	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:55542575G>T	ENST00000220676.1	+	4	6281	c.6133G>T	c.(6133-6135)Ggt>Tgt	p.G2045C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2045					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTTAGTTGTGGGTAATGTGGA	0.353													25	53					2.27525e-19	3.35429e-19	1	0	T	55542575	G	T	55542575	3	4	80	1	0	0	0	0	1	0	0	0	13617	1232	43	4	6143	4	RP1	8	55542575	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1400538	55542575	90821447	292	15420											
PLAG1	5324	broad.mit.edu	37	chr8	57079634	57079634	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtcgagtcaggtgatcctttCgcccaaatctctgtgcacaa	9	11	9	12	2	2	1	1	1	1	0	6	2	3	1	2	1	1	1	2	1	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:57079634C>G	ENST00000316981.3	-	5	1150	c.671G>C	c.(670-672)cGa>cCa	p.R224P	PLAG1_ENST00000423799.2_Missense_Mutation_p.R142P|PLAG1_ENST00000429357.2_Missense_Mutation_p.R224P	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	224	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTGATCCTTTCGCCCAAATCT	0.478			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								36	46					0	0	0	0	G	57079634	C	G	57079634	3	3	80	1	0	0	0	0	1	0	0	0	12090	884	31	3	835	3	PLAG1	8	57079634	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1537059	57079634	89284388	293	15421											
TRIM55	84675	broad.mit.edu	37	chr8	67039550	67039550	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttttccaaagagcagcagaCcatggataacttagagaagc	15	9	9	8	0	0	3	0	0	0	3	1	5	1	4	2	1	4	2	2	1	4	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:67039550C>G	ENST00000315962.4	+	1	420	c.47C>G	c.(46-48)aCc>aGc	p.T16S	TRIM55_ENST00000350034.4_Missense_Mutation_p.T16S|TRIM55_ENST00000353317.5_Missense_Mutation_p.T16S|TRIM55_ENST00000276573.7_Missense_Mutation_p.T16S	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	16						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GAGCAGCAGACCATGGATAAC	0.498													41	74					0	0	0	0	G	67039550	C	G	67039550	3	3	80	1	0	0	0	0	1	0	0	0	16624	507	18	4	49	4	TRIM55	8	67039550	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	9959916	67039550	79324472	294	15422											
ZFHX4	79776	broad.mit.edu	37	chr8	77619832	77619832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccagtggtcagctaatggGtgatgacctgtccctcctta	7	12	11	11	0	1	2	1	2	0	0	3	2	3	2	4	2	2	1	4	2	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:77619832G>A	ENST00000521891.2	+	3	3090	c.2642G>A	c.(2641-2643)gGt>gAt	p.G881D	ZFHX4_ENST00000455469.2_Intron|ZFHX4_ENST00000518282.1_Intron|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	863						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			CAGCTAATGGGTGATGACCTG	0.448										HNSCC(33;0.089)			11	20					0	0	0	0	A	77619832	G	A	77619832	3	1	80	1	0	0	0	0	1	0	0	0	17730	1261	44	4	2648	4	ZFHX4	8	77619832	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	10580282	77619832	68744190	295	15423											
E2F5	1875	broad.mit.edu	37	chr8	86114380	86114380	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgttgtctttcctgaacAggctgctgatactttggctg	5	16	10	10	1	2	2	0	2	2	0	4	2	3	2	1	2	3	4	1	2	2	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:86114380A>T	ENST00000418930.2	+	2	430		c.e2-1		E2F5_ENST00000521429.1_Splice_Site|E2F5_ENST00000416274.2_Splice_Site|E2F5_ENST00000517476.1_Splice_Site|E2F5_ENST00000519128.1_Splice_Site|E2F5_ENST00000256117.5_Splice_Site			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TTTCCTGAACAGGCTGCTGAT	0.348													5	20					0	0	0	0	T	86114380	A	T	86114380	5	4	80	1	0	0	0	0	0	0	1	0	4906	202	7	5	239	5	E2F5	8	86114380	Splice_Site	SNP	A	TCGA-CN-5360-01A-01D-1434-08	8494548	86114380	60249642	296	15424											
CDH17	1015	broad.mit.edu	37	chr8	95183180	95183180	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcttctctttgtcaactaAggaatattgtgcaccgggat	10	13	9	9	1	2	0	1	0	1	0	3	2	2	2	1	2	3	2	1	2	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:95183180A>C	ENST00000027335.3	-	8	941	c.817T>G	c.(817-819)Tta>Gta	p.L273V	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.L273V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	273	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTGTCAACTAAGGAATATTGT	0.453													19	52					0	0	0	0	C	95183180	A	C	95183180	3	2	80	1	0	0	0	0	1	0	0	0	3131	69	3	5	1725	5	CDH17	8	95183180	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	9068800	95183180	51180842	297	15425											
RIMS2	9699	broad.mit.edu	37	chr8	104897854	104897854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atccgaatttggcccgttatCcagtaaagccacaaccctat	12	10	6	13	2	0	0	0	0	0	0	2	1	2	0	5	1	2	2	5	1	6	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:104897854C>T	ENST00000507740.1	+	2	687	c.451C>T	c.(451-453)Cca>Tca	p.P151S	RIMS2_ENST00000406091.3_Missense_Mutation_p.P343S|RIMS2_ENST00000262231.10_Missense_Mutation_p.P151S|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000436393.2_Missense_Mutation_p.P121S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	374	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCCCGTTATCCAGTAAAGCC	0.478										HNSCC(12;0.0054)			15	30					0	0	0	0	T	104897854	C	T	104897854	3	4	80	1	0	0	0	0	1	0	0	0	13453	855	30	2	1167	2	RIMS2	8	104897854	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	9714674	104897854	41466168	298	15426											
CSMD3	114788	broad.mit.edu	37	chr8	113293570	113293570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggttcctgggttaccaCactgcacagctataaaacaa	12	10	8	11	0	0	0	0	0	0	0	1	0	1	0	2	2	4	4	2	2	5	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:113293570C>A	ENST00000297405.5	-	59	9585	c.9341G>T	c.(9340-9342)tGt>tTt	p.C3114F	CSMD3_ENST00000455883.2_Missense_Mutation_p.C2945F|CSMD3_ENST00000352409.3_Missense_Mutation_p.C3044F|CSMD3_ENST00000343508.3_Missense_Mutation_p.C3074F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3114	Sushi 23.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGGTTACCACACTGCACAGC	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	46					5.03518e-11	6.42969e-11	1	0	A	113293570	C	A	113293570	3	1	80	1	0	0	0	0	1	0	0	0	3978	478	17	4	1834	4	CSMD3	8	113293570	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	8395716	113293570	33070452	299	15427											
BAI1	575	broad.mit.edu	37	chr8	143623649	143623649	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgatcctgcccacggccAcggccacgctgcggcccaag	7	4	12	18	5	0	1	0	1	0	0	1	1	1	1	5	3	2	1	5	3	1	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:143623649A>T	ENST00000517894.1	+	28	4948	c.4054A>T	c.(4054-4056)Acg>Tcg	p.T1352S	BAI1_ENST00000323289.5_Missense_Mutation_p.T1352S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1352					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCCACGGCCACGGCCACGCT	0.652													20	23					0	0	0	0	T	143623649	A	T	143623649	3	4	80	1	0	0	0	0	1	0	0	0	1302	159	6	5	4160	5	BAI1	8	143623649	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	30330079	143623649	2740373	300	15428											
TIGD5	84948	broad.mit.edu	37	chr8	144681057	144681057	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcagccgcccgctgctGcggggctggttctttgagga	3	10	16	12	3	2	1	1	1	1	0	2	2	2	2	2	5	3	5	2	5	0	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:144681057G>T	ENST00000321385.3	+	1	984	c.837G>T	c.(835-837)ctG>ctT	p.L279L	TIGD5_ENST00000504548.2_Silent_p.L328L			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	328					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCCGCTGCTGCGGGGCTGGT	0.697													6	12					0.000157383	0.000168678	1	0	T	144681057	G	T	144681057	2	4	80	1	0	0	0	0	0	0	0	1	15993	1306	46	4		4	TIGD5	8	144681057	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1057408	144681057	1682965	301	15429											
PLEC	5339	broad.mit.edu	37	chr8	145049407	145049407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccgttgctcccagcgccaCccccgctgcgccggctccgc	2	6	10	23	6	0	0	0	0	0	0	3	0	3	0	7	1	3	4	7	1	0	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:145049407C>T	ENST00000436759.2	-	2	168	c.131G>A	c.(130-132)gGt>gAt	p.G44D	PLEC_ENST00000527096.1_Missense_Mutation_p.G44D	NM_000445.3	NP_000436.2	Q15149	PLEC_HUMAN	plectin	147	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCAGCGCCACCCCCGCTGCG	0.657											OREG0019050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	50					0	0	0	0	T	145049407	C	T	145049407	3	4	80	1	0	0	0	0	1	0	0	0	12124	507	18	4	14752	4	PLEC	8	145049407	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	368350	145049407	1314615	302	15430											
FREM1	158326	broad.mit.edu	37	chr9	14812864	14812864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atctctctgagagaactgatCcactgtgactccagctctcc	9	11	7	14	0	3	4	0	3	3	1	7	5	5	4	3	0	2	1	3	0	1	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:14812864C>G	ENST00000380881.4	-	17	3657	c.2842G>C	c.(2842-2844)Gat>Cat	p.D948H	FREM1_ENST00000380880.3_Missense_Mutation_p.D947H|FREM1_ENST00000422223.2_Missense_Mutation_p.D947H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	947					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAGAACTGATCCACTGTGACT	0.488													70	147					0	0	0	0	G	14812864	C	G	14812864	3	3	80	1	0	0	0	0	1	0	0	0	6092	855	30	2	3838	2	FREM1	9	14812864	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08		14812864	126400567	303	15431											
CDKN2A	1029	broad.mit.edu	37	chr9	21974693	21974693	+	Frame_Shift_Del	DEL	C	C	-																															ccacctggatcggcctccgaCcgtaactattcggtgcgttg																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:21974693delC	ENST00000304494.5	-	1	404	c.134delG	c.(133-135)gtfs	p.G45fs	CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.G45fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.G45fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.G45fs|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	45					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.G45fs*8(3)|p.G45D(2)|p.0(1)|p.V28_V51del(1)|p.G45del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGCCTCCGACCGTAACTATT	0.687		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			56	100	---	---	---	---					-	21974693	C	-	21974693	7	5	80	1	0	1	0	1	0	0	0	0	3190	507	18	0	549	0	CDKN2A	9	21974693	Frame_Shift_Del	DEL	C	TCGA-CN-5360-01A-01D-1434-08	7161829	21974693	119238738	304	15432											
C9orf135	138255	broad.mit.edu	37	chr9	72459432	72459432	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactcctaattttttcttaaGgcaccgtgacagagaagctt	11	13	8	9	1	1	2	0	1	1	1	2	4	2	2	2	1	1	2	2	1	3	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:72459432G>T	ENST00000377197.3	+	2	239		c.e2-1		C9orf135_ENST00000466872.2_Intron|C9orf135_ENST00000527647.1_Splice_Site	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135							integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTTTTCTTAAGGCACCGTGAC	0.328													23	82					3.28513e-13	4.34852e-13	1	0	T	72459432	G	T	72459432	5	4	80	1	0	0	0	0	0	0	1	0	2483	1014	35	4	158	4	C9orf135	9	72459432	Splice_Site	SNP	G	TCGA-CN-5360-01A-01D-1434-08	50484739	72459432	68753999	305	15433											
TMEM2	23670	broad.mit.edu	37	chr9	74360468	74360468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaatatttctggatccaTctttattgtccccaaataca	13	15	4	9	0	2	0	0	0	2	0	4	1	4	1	3	1	1	1	3	1	6	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:74360468T>C	ENST00000377044.4	-	4	1039	c.500A>G	c.(499-501)gAt>gGt	p.D167G	TMEM2_ENST00000377066.5_Missense_Mutation_p.D167G	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	167	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCTGGATCCATCTTTATTGTC	0.423													27	98					0	0	0	0	C	74360468	T	C	74360468	3	2	80	1	0	0	0	0	1	0	0	0	16215	1435	50	5	3735	5	TMEM2	9	74360468	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	1901036	74360468	66852963	306	15434											
C9orf41	138199	broad.mit.edu	37	chr9	77599914	77599914	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgccagattttcaaagtggTacagcagaggacctatggtt	11	12	11	7	0	1	2	1	0	0	2	1	3	1	3	2	3	3	3	2	3	3	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:77599914T>A	ENST00000376834.3	-	7	1189	c.1037A>T	c.(1036-1038)tAc>tTc	p.Y346F	RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	346										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TTCAAAGTGGTACAGCAGAGG	0.348													26	69					0	0	0	0	A	77599914	T	A	77599914	3	1	80	1	0	0	0	0	1	0	0	0	2507	1638	57	5	200	5	C9orf41	9	77599914	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	3239446	77599914	63613517	307	15435											
OR13C5	138799	broad.mit.edu	37	chr9	107360955	107360955	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacagaatgttatcaccAcagtcagacgagctgagcag	13	7	9	12	1	2	3	2	1	0	2	3	4	3	3	2	0	2	3	2	0	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:107360955A>C	ENST00000374779.2	-	1	833	c.740T>G	c.(739-741)gTg>gGg	p.V247G		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TGTTATCACCACAGTCAGACG	0.423													23	77					0	0	0	0	C	107360955	A	C	107360955	3	2	80	1	0	0	0	0	1	0	0	0	11008	159	6	5	218	5	OR13C5	9	107360955	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	29761041	107360955	33852476	308	15436											
SVEP1	79987	broad.mit.edu	37	chr9	113261433	113261433	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcaacttacatagcagatCgtcccaaatttggctggctg	10	10	10	11	2	0	1	0	0	0	1	2	1	1	1	1	3	3	4	1	3	4	3	rs3737156	by1000genomes	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:113261433C>T	ENST00000401783.2	-	7	1905	c.1569G>A	c.(1567-1569)acG>acA	p.T523T	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.T523T|SVEP1_ENST00000374461.1_Silent_p.T500T|SVEP1_ENST00000374469.1_Silent_p.T500T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	523	Sushi 3.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATAGCAGATCGTCCCAAATT	0.488													18	44					0	0	0	0	T	113261433	C	T	113261433	2	4	80	1	0	0	0	0	0	0	0	1	15510	871	31	1		1	SVEP1	9	113261433	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	5900478	113261433	27951998	309	15437											
PAPPA	5069	broad.mit.edu	37	chr9	118950444	118950444	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagagtgctgtgaccCtgaaatcaccaatgtcactc	10	10	11	10	0	2	3	2	2	0	1	3	4	2	3	2	2	1	1	2	2	2	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:118950444C>G	ENST00000328252.3	+	2	1796	c.1427C>G	c.(1426-1428)cCt>cGt	p.P476R		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	476	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGCTGTGACCCTGAAATCACC	0.507													13	44					0	0	0	0	G	118950444	C	G	118950444	3	3	80	1	0	0	0	0	1	0	0	0	11503	681	24	4	1433	4	PAPPA	9	118950444	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	5689011	118950444	22262987	310	15438											
C5	727	broad.mit.edu	37	chr9	123776180	123776180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaattgcatgtctttatgaGagatattagcacggagctgg	11	12	11	7	1	1	2	0	1	1	1	1	4	1	3	1	2	3	3	1	2	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:123776180G>C	ENST00000223642.1	-	17	2257	c.2228C>G	c.(2227-2229)tCt>tGt	p.S743C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	743					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GTCTTTATGAGAGATATTAGC	0.423													42	125					0	0	0	0	C	123776180	G	C	123776180	3	2	80	1	0	0	0	0	1	0	0	0	2301	942	33	2	2902	2	C5	9	123776180	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	4825736	123776180	17437251	311	15439											
MRRF	92399	broad.mit.edu	37	chr9	125084837	125084837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatcagccaaatggccgatGacacagtggcagaactggac	14	5	12	10	1	1	3	1	1	0	2	1	5	1	4	2	3	2	1	2	3	2	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:125084837G>A	ENST00000344641.3	+	7	1041	c.730G>A	c.(730-732)Gac>Aac	p.D244N	MRRF_ENST00000297908.3_Missense_Mutation_p.D192N|MRRF_ENST00000394315.3_Missense_Mutation_p.M190I|MRRF_ENST00000373729.1_Missense_Mutation_p.D200N|MRRF_ENST00000373723.4_Missense_Mutation_p.M190I	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	244					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						AATGGCCGATGACACAGTGGC	0.493													7	33					0	0	0	0	A	125084837	G	A	125084837	3	1	80	1	0	0	0	0	1	0	0	0	9920	1290	45	2	752	2	MRRF	9	125084837	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1308657	125084837	16128594	312	15440											
GOLGA1	2800	broad.mit.edu	37	chr9	127670691	127670691	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaatggccttagcctggcTgcttctggctgccaagagct	6	12	12	11	0	1	1	0	0	1	1	1	1	1	1	3	3	4	5	3	3	3	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:127670691T>C	ENST00000373555.4	-	12	1363	c.1030A>G	c.(1030-1032)Agc>Ggc	p.S344G		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	344						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TTAGCCTGGCTGCTTCTGGCT	0.473													33	130					0	0	0	0	C	127670691	T	C	127670691	3	2	80	1	0	0	0	0	1	0	0	0	6602	1580	55	5	1321	5	GOLGA1	9	127670691	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	2585854	127670691	13542740	313	15441											
RPL12	6136	broad.mit.edu	37	chr9	130210254	130210255	+	Frame_Shift_Del	DEL	TC	TC	-																															tgactgggcagtccccaggaTctctttaatggttcctttaa																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:130210254_130210255delTC	ENST00000361436.5	-	6	480_481	c.393_394delGA	c.(391-396)gatcfs	p.EI131fs	RPL12_ENST00000536368.1_Frame_Shift_Del_p.EI98fs|RPL12_ENST00000497322.1_5'UTR	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	131					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						GTCCCCAGGATCTCTTTAATGG	0.505													12	92	---	---	---	---					-	130210255	TC	-	130210254	7	5	80	1	0	1	0	1	0	0	0	0	13643	1435	50	0	111	0	RPL12	9	130210254	Frame_Shift_Del	DEL	TC	TCGA-CN-5360-01A-01D-1434-08	2539563	130210254	11003177	314	15442											
SARDH	1757	broad.mit.edu	37	chr9	136597649	136597649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcccgtctcctcctccagctCccggctcaccacccgccgag	4	7	7	23	4	2	0	1	0	1	0	7	1	6	0	8	1	1	2	8	1	0	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:136597649C>T	ENST00000371872.4	-	3	663	c.406G>A	c.(406-408)Gag>Aag	p.E136K	SARDH_ENST00000371867.1_Missense_Mutation_p.E47K|SARDH_ENST00000439388.1_Missense_Mutation_p.E136K|SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000298628.5_Missense_Mutation_p.E136K	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	136					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCCTCCAGCTCCCGGCTCACC	0.672													29	139					0	0	0	0	T	136597649	C	T	136597649	3	4	80	1	0	0	0	0	1	0	0	0	13927	864	30	2	2426	2	SARDH	9	136597649	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	6387395	136597649	4615782	315	15443											
SARDH	1757	broad.mit.edu	37	chr9	136599210	136599210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgtggggccagctgcgctgGacaggttgcatggccccatg	5	8	16	12	1	0	0	0	0	0	0	0	1	0	1	3	5	3	4	3	5	0	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:136599210G>C	ENST00000371872.4	-	2	343	c.86C>G	c.(85-87)tCc>tGc	p.S29C	SARDH_ENST00000439388.1_Missense_Mutation_p.S29C|SARDH_ENST00000422262.2_Intron|SARDH_ENST00000298628.5_Missense_Mutation_p.S29C	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	29					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AGCTGCGCTGGACAGGTTGCA	0.697													8	35					0	0	0	0	C	136599210	G	C	136599210	3	2	80	1	0	0	0	0	1	0	0	0	13927	1174	41	2	2750	2	SARDH	9	136599210	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1561	136599210	4614221	316	15444											
COL5A1	1289	broad.mit.edu	37	chr9	137653806	137653806	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggcccaccaggacctccGggagacgatggagaaagggt	10	4	15	12	3	0	2	0	0	0	2	2	6	2	3	5	5	0	0	5	5	1	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:137653806G>C	ENST00000371817.3	+	19	2385	c.1971G>C	c.(1969-1971)ccG>ccC	p.P657P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	657	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGGACCTCCGGGAGACGATG	0.597													23	81					0	0	0	0	C	137653806	G	C	137653806	2	2	80	1	0	0	0	0	0	0	0	1	3726	1103	39	3		3	COL5A1	9	137653806	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1054596	137653806	3559625	317	15445											
KCNT1	57582	broad.mit.edu	37	chr9	138662904	138662904	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggggctgcacgagggtccGgcccgcctgcccgtgcacag	5	4	16	16	4	0	0	0	0	0	0	1	1	1	0	4	4	3	3	4	4	0	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:138662904G>T	ENST00000298480.5	+	18	2045	c.1971G>T	c.(1969-1971)ccG>ccT	p.P657P	KCNT1_ENST00000487664.1_Silent_p.P612P|KCNT1_ENST00000491806.2_Silent_p.P624P|KCNT1_ENST00000263604.3_Silent_p.P638P|KCNT1_ENST00000486577.2_Silent_p.P618P|KCNT1_ENST00000490355.2_Silent_p.P638P|KCNT1_ENST00000371757.2_Silent_p.P657P|KCNT1_ENST00000488444.2_Silent_p.P638P			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	657						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACGAGGGTCCGGCCCGCCTGC	0.662													3	16					0.115264	0.116967	1	0	T	138662904	G	T	138662904	2	4	80	1	0	0	0	0	0	0	0	1	8144	1103	39	3		3	KCNT1	9	138662904	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1009098	138662904	2550527	318	15446											
CLIC3	9022	broad.mit.edu	37	chr9	139889998	139889998	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgagccgggggcgaaGtccttcagcacgtccgggga	7	5	17	12	5	1	0	1	0	0	0	3	3	3	1	3	4	4	2	3	4	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:139889998G>A	ENST00000494426.1	-	3	424	c.165C>T	c.(163-165)gaC>gaT	p.D55D	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	55	GST N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGGGGCGAAGTCCTTCAGCA	0.697													13	64					0	0	0	0	A	139889998	G	A	139889998	2	1	80	1	0	0	0	0	0	0	0	1	3557	1020	36	4		4	CLIC3	9	139889998	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1227094	139889998	1323433	319	15447											
ITGA8	8516	broad.mit.edu	37	chr10	15649735	15649735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcctttttatcacaagagGgaagacgcgatgagcctgat	11	10	11	9	2	1	4	1	2	0	2	1	6	1	5	2	1	2	0	2	1	3	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:15649735G>T	ENST00000378076.3	-	17	2058	c.1705C>A	c.(1705-1707)Cct>Act	p.P569T		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	569					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATCACAAGAGGGAAGACGCGA	0.448													64	135					2.67592e-24	4.16861e-24	1	0	T	15649735	G	T	15649735	3	4	80	1	0	0	0	0	1	0	0	0	7935	1232	43	4	1542	4	ITGA8	10	15649735	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08		15649735	119885012	320	15448											
SLC39A12	221074	broad.mit.edu	37	chr10	18242223	18242223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaatgtgcttccggacaaaGctctcagtatcctgggtgcc	9	10	11	11	1	1	0	1	0	1	0	4	2	3	1	3	2	3	3	3	2	3	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:18242223G>T	ENST00000377369.2	+	2	291	c.18G>T	c.(16-18)aaG>aaT	p.K6N	SLC39A12_ENST00000377371.3_Missense_Mutation_p.K6N|SLC39A12_ENST00000377374.4_Missense_Mutation_p.K6N|SLC39A12_ENST00000539911.1_Intron	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	6					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCCGGACAAAGCTCTCAGTAT	0.493													22	67					2.89027e-11	3.71838e-11	1	0	T	18242223	G	T	18242223	3	4	80	1	0	0	0	0	1	0	0	0	14703	962	34	4	20	4	SLC39A12	10	18242223	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2592488	18242223	117292524	321	15449											
ARHGAP12	94134	broad.mit.edu	37	chr10	32141445	32141445	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgtcaaggtttattacCtttggcaattcccattctga	8	16	8	9	1	2	1	1	1	1	0	4	1	3	1	2	3	1	2	2	3	4	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:32141445C>A	ENST00000375250.5	-	6	1411	c.1170_splice	c.e6+1	p.K390_splice	ARHGAP12_ENST00000396144.4_Splice_Site_p.K390_splice|ARHGAP12_ENST00000375245.4_Splice_Site_p.K343_splice|ARHGAP12_ENST00000311380.4_Splice_Site_p.K343_splice|ARHGAP12_ENST00000344936.2_Splice_Site_p.K390_splice	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	390	WW 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GGTTTATTACCTTTGGCAATT	0.348													44	80					5.2432e-18	7.50433e-18	1	0	A	32141445	C	A	32141445	5	1	80	1	0	0	0	0	0	0	1	0	867	695	24	4	1430	4	ARHGAP12	10	32141445	Splice_Site	SNP	C	TCGA-CN-5360-01A-01D-1434-08	13899222	32141445	103393302	322	15450											
ZNF37A	7587	broad.mit.edu	37	chr10	38406775	38406775	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagttaaatctcactccAattcagagaacccactcaat	16	9	4	12	0	3	2	3	0	1	2	5	3	4	2	2	0	1	1	2	0	6	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:38406775A>G	ENST00000351773.3	+	8	1526	c.696A>G	c.(694-696)ccA>ccG	p.P232P	ZNF37A_ENST00000361085.4_Silent_p.P232P	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	232						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						ATCTCACTCCAATTCAGAGAA	0.338													10	45					0	0	0	0	G	38406775	A	G	38406775	2	3	80	1	0	0	0	0	0	0	0	1	17967	117	5	5		5	ZNF37A	10	38406775	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08	6265330	38406775	97127972	323	15451											
CXCL12	6387	broad.mit.edu	37	chr10	44873324	44873324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgagccccagcaatcaccCtcttcccggctggtgcggcg	6	6	11	18	4	2	0	1	0	1	0	3	1	3	0	4	3	3	2	4	3	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:44873324C>A	ENST00000395794.2	-	4	339	c.296G>T	c.(295-297)aGg>aTg	p.R99M	CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000395793.3_Intron	NM_001178134.1	NP_001171605.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	AGCAATCACCCTCTTCCCGGC	0.607													5	3					5.9392e-07	6.69989e-07	1	0	A	44873324	C	A	44873324	3	1	80	1	0	0	0	0	1	0	0	0	4112	681	24	4	248	4	CXCL12	10	44873324	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	6466549	44873324	90661423	324	15452											
OGDHL	55753	broad.mit.edu	37	chr10	50954889	50954889	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataccacgccctggccagcAaaggcggcgtccccatgaac	10	5	10	16	3	0	1	0	1	0	0	1	1	1	1	5	3	3	1	5	3	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:50954889A>C	ENST00000374103.4	-	10	1288	c.1203T>G	c.(1201-1203)ttT>ttG	p.F401L	OGDHL_ENST00000419399.1_Missense_Mutation_p.F344L|OGDHL_ENST00000432695.1_Missense_Mutation_p.F192L	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	401					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCTGGCCAGCAAAGGCGGCGT	0.637													10	34					0	0	0	0	C	50954889	A	C	50954889	3	2	80	1	0	0	0	0	1	0	0	0	10911	127	5	5	1885	5	OGDHL	10	50954889	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	6081565	50954889	84579858	325	15453											
RBP4	5950	broad.mit.edu	37	chr10	95360467	95360467	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtggcgctcatctggcCggtctcgtccacggagaact	5	9	14	13	4	3	1	1	0	2	1	5	2	4	1	2	5	1	2	2	5	1	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:95360467C>A	ENST00000371467.1	-	3	524	c.205G>T	c.(205-207)Ggc>Tgc	p.G69C	RBP4_ENST00000371464.3_Missense_Mutation_p.G69C|RBP4_ENST00000371469.2_Missense_Mutation_p.G67C|FFAR4_ENST00000604414.1_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	69					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	CTCATCTGGCCGGTCTCGTCC	0.647													9	10					5.4927e-09	6.55119e-09	1	0	A	95360467	C	A	95360467	3	1	80	1	0	0	0	0	1	0	0	0	13240	652	23	3	416	3	RBP4	10	95360467	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	44405578	95360467	40174280	326	15454											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118383495	118383495	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacttggctgcttttctgAtgaaaaaccatgggcaggaa	13	10	10	8	0	1	2	0	2	1	0	1	3	1	3	1	3	3	3	1	3	4	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:118383495A>T	ENST00000537242.1	+	0	115				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGCTTTTCTGATGAAAAACCA	0.463													23	39					0	0	0	0	T	118383495	A	T	118383495	1	4	80	0	1	0	0	0	0	0	0	0	12223	333	12	5		5	PNLIPRP2	10	118383495	RNA	SNP	A	TCGA-CN-5360-01A-01D-1434-08	23023028	118383495	17151252	327	15455											
FAM196A	642938	broad.mit.edu	37	chr10	128974171	128974171	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgtgcacccgccccgcGccacatggccgggcctcctc	3	7	11	20	4	1	0	0	0	1	0	3	0	2	0	7	2	1	1	7	2	0	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:128974171G>C	ENST00000522781.1	-	4	1044	c.489C>G	c.(487-489)ggC>ggG	p.G163G	FAM196A_ENST00000424811.2_Silent_p.G163G|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	163										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCCGCCCCGCGCCACATGGCC	0.552													22	53					0	0	0	0	C	128974171	G	C	128974171	2	2	80	1	0	0	0	0	0	0	0	1	5571	1074	38	3		3	FAM196A	10	128974171	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	10590676	128974171	6560576	328	15456											
FRG2B	441581	broad.mit.edu	37	chr10	135438781	135438781	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatacaaggtctgcaccTgggcacacagaggcccccgg	10	5	13	13	1	1	1	0	0	1	1	1	2	1	2	3	5	2	2	3	5	3	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:135438781T>C	ENST00000443774.1	-	4	711	c.662A>G	c.(661-663)cAg>cGg	p.Q221R	FRG2B_ENST00000425520.1_Missense_Mutation_p.Q220R			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	220						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGTCTGCACCTGGGCACACAG	0.597													10	21					0	0	0	0	C	135438781	T	C	135438781	3	2	80	1	0	0	0	0	1	0	0	0	6095	1580	55	5	180	5	FRG2B	10	135438781	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	6464610	135438781	95966	329	15457											
SIGIRR	59307	broad.mit.edu	37	chr11	408879	408879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggggagaggaagtcaggggCcctatcacagacacctgaag	12	4	15	10	1	2	3	2	1	0	2	2	5	2	4	2	5	0	0	2	5	3	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:408879C>T	ENST00000431843.2	-	3	328	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	SIGIRR_ENST00000529486.1_Intron|SIGIRR_ENST00000531205.1_Missense_Mutation_p.A8T|SIGIRR_ENST00000382520.2_Missense_Mutation_p.A8T|SIGIRR_ENST00000332725.3_Missense_Mutation_p.A8T|SIGIRR_ENST00000397632.3_Missense_Mutation_p.A8T	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	8					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTCAGGGGCCCTATCACAG	0.617													14	48					0	0	0	0	T	408879	C	T	408879	3	4	80	1	0	0	0	0	1	0	0	0	14392	739	26	4	1242	4	SIGIRR	11	408879	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08		408879	134597637	330	15458											
MUC5B	727897	broad.mit.edu	37	chr11	1255445	1255445	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtccccagggtgtgcagcCcccatggtgtacctggactg	5	9	13	14	0	0	0	0	0	0	0	1	1	1	1	5	3	3	2	5	3	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:1255445C>A	ENST00000447027.1	+	20	2455	c.2397C>A	c.(2395-2397)gcC>gcA	p.A799A	MUC5B_ENST00000529681.1_Silent_p.A796A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	796					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTGTGCAGCCCCCATGGTGT	0.682													3	6					0.00024832	0.0002649	1	0	A	1255445	C	A	1255445	2	1	80	1	0	0	0	0	0	0	0	1	10049	610	22	4		4	MUC5B	11	1255445	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	846566	1255445	133751071	331	15459											
ZNF195	7748	broad.mit.edu	37	chr11	3381036	3381036	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctccaatctcatttctcTggtgtttggaaggatttggg	6	16	10	9	0	2	0	1	0	2	0	6	2	4	2	2	4	0	1	2	4	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:3381036T>C	ENST00000354599.6	-	4	1090	c.986A>G	c.(985-987)cAg>cGg	p.Q329R	ZNF195_ENST00000526601.1_Missense_Mutation_p.Q382R|ZNF195_ENST00000343338.7_Missense_Mutation_p.Q333R|ZNF195_ENST00000429541.2_Missense_Mutation_p.Q333R|ZNF195_ENST00000399602.4_Missense_Mutation_p.Q401R|ZNF195_ENST00000005082.9_Missense_Mutation_p.Q378R|ZNF195_ENST00000528796.1_Intron	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTCATTTCTCTGGTGTTTGGA	0.408													81	239					0	0	0	0	C	3381036	T	C	3381036	3	2	80	1	0	0	0	0	1	0	0	0	17853	1580	55	5	691	5	ZNF195	11	3381036	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	2125591	3381036	131625480	332	15460											
HBE1	3046	broad.mit.edu	37	chr11	5290723	5290723	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatgcagcttgtcacagtgCagctcactcagcttagcaaa	12	9	8	12	0	3	0	3	0	0	0	3	0	3	0	0	0	6	6	0	0	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:5290723C>A	ENST00000380237.1	-	4	620	c.276G>T	c.(274-276)ctG>ctT	p.L92L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Silent_p.L92L			P02100	HBE_HUMAN	hemoglobin, epsilon 1	92					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCACAGTGCAGCTCACTCA	0.458													33	135					6.53348e-20	9.71536e-20	1	0	A	5290723	C	A	5290723	2	1	80	1	0	0	0	0	0	0	0	1	7030	697	25	4		4	HBE1	11	5290723	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1909687	5290723	129715793	333	15461											
OR51M1	390059	broad.mit.edu	37	chr11	5411012	5411012	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagtcctcagtgctcctCatgatgtcctttgaccgcct	6	13	9	13	1	2	2	2	2	0	0	5	3	5	3	5	1	1	1	5	1	0	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:5411012C>T	ENST00000328611.3	+	1	406	c.384C>T	c.(382-384)ctC>ctT	p.L128L	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	128						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGCTCCTCATGATGTCCT	0.488													82	307					0	0	0	0	T	5411012	C	T	5411012	2	4	80	1	0	0	0	0	0	0	0	1	11174	813	29	2		2	OR51M1	11	5411012	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	120289	5411012	129595504	334	15462											
OR56A4	120793	broad.mit.edu	37	chr11	6024019	6024019	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgatgtccagcagggagagGaggctgagcaggtagtacag	12	5	17	7	1	0	2	0	1	0	1	1	5	1	3	1	4	3	5	1	4	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:6024019G>A	ENST00000330728.4	-	1	405	c.360C>T	c.(358-360)ctC>ctT	p.L120L		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGGAGAGGAGGCTGAGCA	0.607													25	85					0	0	0	0	A	6024019	G	A	6024019	2	1	80	1	0	0	0	0	0	0	0	1	11206	1161	41	2		2	OR56A4	11	6024019	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	613007	6024019	128982497	335	15463											
OR2AG2	338755	broad.mit.edu	37	chr11	6789565	6789565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaatggcagaaatggggagCaagaggaaagtcacacctgt	16	5	13	7	0	1	2	1	0	0	2	1	4	1	4	1	4	1	2	1	4	4	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:6789565C>A	ENST00000338569.2	-	1	721	c.624G>T	c.(622-624)ttG>ttT	p.L208F		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAATGGGGAGCAAGAGGAAAG	0.502													10	34					0.00829132	0.00855276	1	0	A	6789565	C	A	6789565	3	1	80	1	0	0	0	0	1	0	0	0	11056	709	25	4	330	4	OR2AG2	11	6789565	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	765546	6789565	128216951	336	15464											
ANO5	203859	broad.mit.edu	37	chr11	22294481	22294481	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttctaaagctcatagcatAggtgtttggcaagacattct	11	13	9	8	0	3	1	1	0	2	1	3	1	3	1	0	2	2	5	0	2	5	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:22294481A>T	ENST00000324559.8	+	19	2498	c.2181A>T	c.(2179-2181)atA>atT	p.I727I	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	727						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCATAGCATAGGTGTTTGGC	0.403													42	144					0	0	0	0	T	22294481	A	T	22294481	2	4	80	1	0	0	0	0	0	0	0	1	699	410	15	5		5	ANO5	11	22294481	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08	15504916	22294481	112712035	337	15465											
KCNA4	3739	broad.mit.edu	37	chr11	30033431	30033431	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctcccgaaacttcaacagGgcctcctcccccaactgata	10	8	5	18	1	1	1	1	1	0	0	5	2	5	1	6	1	3	0	6	1	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:30033431G>T	ENST00000328224.6	-	2	2028	c.795C>A	c.(793-795)gcC>gcA	p.A265A		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	265						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACTTCAACAGGGCCTCCTCCC	0.488													40	103					1.04594e-18	1.51276e-18	1	0	T	30033431	G	T	30033431	2	4	80	1	0	0	0	0	0	0	0	1	8058	1219	43	4		4	KCNA4	11	30033431	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	7738950	30033431	104973085	338	15466											
LRRC4C	57689	broad.mit.edu	37	chr11	40136727	40136727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggcccgacatttcagCtcagctgccatgccttcagt	7	10	11	13	1	3	0	3	0	0	0	3	2	3	1	3	2	4	2	3	2	0	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:40136727C>A	ENST00000278198.2	-	2	3079	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D	LRRC4C_ENST00000527150.1_Missense_Mutation_p.E372D|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E372D|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E372D			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	372	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GACATTTCAGCTCAGCTGCCA	0.517													28	60					2.81731e-10	3.51269e-10	1	0	A	40136727	C	A	40136727	3	1	80	1	0	0	0	0	1	0	0	0	9072	796	28	4	810	4	LRRC4C	11	40136727	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	10103296	40136727	94869789	339	15467											
ALX4	60529	broad.mit.edu	37	chr11	44296974	44296974	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgggtagtgggtcttcTggaagaccttctccagctcc	5	12	12	12	1	4	1	0	0	4	1	6	2	5	2	3	3	1	2	3	3	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:44296974T>A	ENST00000329255.3	-	2	804	c.701A>T	c.(700-702)cAg>cTg	p.Q234L		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	234					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GTGGGTCTTCTGGAAGACCTT	0.617													89	220					0	0	0	0	A	44296974	T	A	44296974	3	1	80	1	0	0	0	0	1	0	0	0	558	1580	55	5	546	5	ALX4	11	44296974	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	4160247	44296974	90709542	340	15468											
OR4A5	81318	broad.mit.edu	37	chr11	51411677	51411677	+	Missense_Mutation	SNP	C	C	A																															agaggacaacaacggtactgCcggagctgcaggtagacaag																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:51411677C>A	ENST00000319760.6	-	1	771	c.719G>T	c.(718-720)gGc>gTc	p.G240V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				AACGGTACTGCCGGAGCTGCA	0.398													5	65					0.217242	0.218514	1	0	A	51411677	C	A	51411677	3	1	80	1	0	0	0	0	1	0	0	0	11114	739	26	4	232	4	OR4A5	11	51411677	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	7114703	51411677	83594839	341	15469	132	2									
OR4A5	81318	broad.mit.edu	37	chr11	51411678	51411678	+	Missense_Mutation	SNP	C	C	A																															gaggacaacaacggtactgcCggagctgcaggtagacaagg																								rs5011055	byFrequency	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:51411678C>A	ENST00000319760.6	-	1	770	c.718G>T	c.(718-720)Ggc>Tgc	p.G240C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				ACGGTACTGCCGGAGCTGCAG	0.398													5	67					0.217242	0.218514	1	0	A	51411678	C	A	51411678	3	1	80	1	0	0	0	0	1	0	0	0	11114	652	23	3	233	3	OR4A5	11	51411678	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1	51411678	83594838	342	15470	132	2									
OR5L1	219437	broad.mit.edu	37	chr11	55579236	55579236	+	Missense_Mutation	SNP	G	G	T																															atctccttcctagggtgcatGgtgcaattctacttgttttg																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:55579236G>T	ENST00000333973.2	+	1	383	c.294G>T	c.(292-294)atG>atT	p.M98I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M98_V99>IM(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TAGGGTGCATGGTGCAATTCT	0.453													29	251					3.78316e-11	4.84894e-11	1	0	T	55579236	G	T	55579236	3	4	80	1	0	0	0	0	1	0	0	0	11241	1348	47	4	296	4	OR5L1	11	55579236	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	4167558	55579236	79427280	343	15471	133	2									
OR5L1	219437	broad.mit.edu	37	chr11	55579237	55579237	+	Missense_Mutation	SNP	G	G	T																															tctccttcctagggtgcatgGtgcaattctacttgttttgc																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:55579237G>T	ENST00000333973.2	+	1	384	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M98_V99>IM(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AGGGTGCATGGTGCAATTCTA	0.453													29	250					3.78316e-11	4.84894e-11	1	0	T	55579237	G	T	55579237	3	4	80	1	0	0	0	0	1	0	0	0	11241	1261	44	4	297	4	OR5L1	11	55579237	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1	55579237	79427279	344	15472	133	2									
OR5D18	219438	broad.mit.edu	37	chr11	55587970	55587970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccccatgttgaatcccCtgatctacagtctgagaaat	11	12	7	11	0	2	4	0	4	2	1	4	5	4	4	4	0	1	1	4	0	3	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:55587970C>A	ENST00000333976.4	+	1	885	c.865C>A	c.(865-867)Ctg>Atg	p.L289M		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTTGAATCCCCTGATCTACAG	0.458													7	70					8.12818e-05	8.7251e-05	1	0	A	55587970	C	A	55587970	3	1	80	1	0	0	0	0	1	0	0	0	11228	680	24	4	867	4	OR5D18	11	55587970	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	8733	55587970	79418546	345	15473											
OR5L2	26338	broad.mit.edu	37	chr11	55594988	55594988	+	Missense_Mutation	SNP	G	G	T																															atctccttcctagggtgcatGgtgcaattctacttgttttg																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:55594988G>T	ENST00000378397.1	+	1	294	c.294G>T	c.(292-294)atG>atT	p.M98I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TAGGGTGCATGGTGCAATTCT	0.468										HNSCC(27;0.073)			21	129					3.28513e-13	4.34852e-13	1	0	T	55594988	G	T	55594988	3	4	80	1	0	0	0	0	1	0	0	0	11242	1348	47	4	296	4	OR5L2	11	55594988	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	7018	55594988	79411528	346	15474	134	2									
OR5L2	26338	broad.mit.edu	37	chr11	55594989	55594989	+	Missense_Mutation	SNP	G	G	T																															tctccttcctagggtgcatgGtgcaattctacttgttttgc																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:55594989G>T	ENST00000378397.1	+	1	295	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AGGGTGCATGGTGCAATTCTA	0.468										HNSCC(27;0.073)			21	129					3.28513e-13	4.34852e-13	1	0	T	55594989	G	T	55594989	3	4	80	1	0	0	0	0	1	0	0	0	11242	1261	44	4	297	4	OR5L2	11	55594989	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1	55594989	79411527	347	15475	134	2									
OR10AG1	282770	broad.mit.edu	37	chr11	55735898	55735898	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atactaaaaagcatccagtgGagattgggaatatcagaaaa	19	8	9	5	0	1	2	1	0	0	2	2	4	2	3	1	2	2	1	1	2	8	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:55735898G>A	ENST00000312345.2	-	1	92	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GCATCCAGTGGAGATTGGGAA	0.338													4	75					0	0	0	0	A	55735898	G	A	55735898	2	1	80	1	0	0	0	0	0	0	0	1	10968	1161	41	2		2	OR10AG1	11	55735898	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	140909	55735898	79270618	348	15476											
OR8K3	219473	broad.mit.edu	37	chr11	56085893	56085893	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcatgatctatgtgatCtcagtgatgggcaatttggg	8	15	11	7	0	3	3	2	3	2	0	5	3	4	3	1	2	0	1	1	2	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:56085893C>A	ENST00000312711.1	+	1	111	c.111C>A	c.(109-111)atC>atA	p.I37I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCTATGTGATCTCAGTGATGG	0.433													65	119					5.08636e-23	7.83482e-23	1	0	A	56085893	C	A	56085893	2	1	80	1	0	0	0	0	0	0	0	1	11315	903	32	2		2	OR8K3	11	56085893	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	349995	56085893	78920623	349	15477											
OR5M3	219482	broad.mit.edu	37	chr11	56237592	56237592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttactgccataaagcaGaggattcccaattgccatgt	12	12	7	10	0	0	1	0	0	0	1	1	2	1	2	3	1	4	1	3	1	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:56237592G>T	ENST00000312240.2	-	1	422	c.382C>A	c.(382-384)Ctg>Atg	p.L128M		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCATAAAGCAGAGGATTCCCA	0.393													35	114					6.33695e-27	1.00311e-26	1	0	T	56237592	G	T	56237592	3	4	80	1	0	0	0	0	1	0	0	0	11246	933	33	2	543	2	OR5M3	11	56237592	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	151699	56237592	78768924	350	15478											
OR5M8	219484	broad.mit.edu	37	chr11	56258070	56258070	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattcctttgaggggggtctGagatacatgaagaaaagggt	12	10	15	4	0	1	4	0	3	1	2	2	6	2	4	1	4	1	0	1	4	4	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:56258070G>A	ENST00000327216.2	-	1	801	c.777C>T	c.(775-777)ctC>ctT	p.L259L		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGGGGGGTCTGAGATACATGA	0.413													34	59					0	0	0	0	A	56258070	G	A	56258070	2	1	80	1	0	0	0	0	0	0	0	1	11247	1277	45	2		2	OR5M8	11	56258070	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	20478	56258070	78748446	351	15479											
OR5AR1	219493	broad.mit.edu	37	chr11	56431893	56431893	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctccacctgcgggtctcaCcttactggcatcaccctctt	5	13	6	17	1	4	0	2	0	3	0	6	0	4	0	4	2	2	1	4	2	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:56431893C>A	ENST00000302969.2	+	1	756	c.732C>A	c.(730-732)caC>caA	p.H244Q		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCGGGTCTCACCTTACTGGCA	0.498													40	92					1.30091e-30	2.10288e-30	1	0	A	56431893	C	A	56431893	3	1	80	1	0	0	0	0	1	0	0	0	11216	506	18	4	734	4	OR5AR1	11	56431893	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	173823	56431893	78574623	352	15480											
OR9G4	283189	broad.mit.edu	37	chr11	56510975	56510975	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagccaaggaaatgcgctTatcttctgagacacaactgg	12	9	9	11	1	2	1	0	1	2	1	3	3	3	2	2	2	3	1	2	2	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:56510975T>C	ENST00000302957.3	-	1	312	c.313A>G	c.(313-315)Aag>Gag	p.K105E		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GAAATGCGCTTATCTTCTGAG	0.458													6	125					0	0	0	0	C	56510975	T	C	56510975	3	2	80	1	0	0	0	0	1	0	0	0	11322	1763	61	5	673	5	OR9G4	11	56510975	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	79082	56510975	78495541	353	15481											
OR4D10	390197	broad.mit.edu	37	chr11	59245402	59245402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgttgctcccactccCtttctgcggacccaatgttc	4	14	6	17	1	1	0	0	0	1	0	5	1	4	1	4	1	2	3	4	1	1	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:59245402C>A	ENST00000530162.1	+	1	557	c.500C>A	c.(499-501)cCt>cAt	p.P167H		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCCACTCCCTTTCTGCGGA	0.493													7	145					5.18039e-06	5.72175e-06	1	0	A	59245402	C	A	59245402	3	1	80	1	0	0	0	0	1	0	0	0	11125	681	24	4	502	4	OR4D10	11	59245402	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2734427	59245402	75761114	354	15482											
TCN1	6947	broad.mit.edu	37	chr11	59622211	59622211	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgacattggtgaaataTgtttcattgattctcacaga	13	14	8	6	0	2	4	2	3	1	1	3	4	2	4	0	1	0	1	0	1	2	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:59622211T>C	ENST00000257264.3	-	7	1139	c.1035A>G	c.(1033-1035)acA>acG	p.T345T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	345					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGTGAAATATGTTTCATTGA	0.408													9	145					0	0	0	0	C	59622211	T	C	59622211	2	2	80	1	0	0	0	0	0	0	0	1	15800	1451	51	5		5	TCN1	11	59622211	Silent	SNP	T	TCGA-CN-5360-01A-01D-1434-08	376809	59622211	75384305	355	15483											
TPCN2	219931	broad.mit.edu	37	chr11	68830381	68830381	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgccggcttctccgtccCttcttcctgctgcagaactc	4	12	7	18	3	2	1	0	0	2	1	7	1	5	1	5	1	3	3	5	1	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:68830381C>A	ENST00000294309.3	+	6	677	c.576C>A	c.(574-576)ccC>ccA	p.P192P	TPCN2_ENST00000542467.1_Silent_p.P192P|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	192					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTCTCCGTCCCTTCTTCCTGC	0.582													56	162					6.75472e-32	1.10488e-31	1	0	A	68830381	C	A	68830381	2	1	80	1	0	0	0	0	0	0	0	1	16491	668	24	4		4	TPCN2	11	68830381	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	9208170	68830381	66176135	356	15484											
PHOX2A	401	broad.mit.edu	37	chr11	71950813	71950813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagaagagattggtcttcaGggcggggccgggcttccggt	6	9	17	9	3	2	2	1	0	1	2	3	3	3	2	2	6	0	1	2	6	2	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:71950813G>T	ENST00000298231.5	-	3	1006	c.835C>A	c.(835-837)Ctg>Atg	p.L279M		NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	279					noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TTGGTCTTCAGGGCGGGGCCG	0.692													4	4					0.000602214	0.000637475	1	0	T	71950813	G	T	71950813	3	4	80	1	0	0	0	0	1	0	0	0	11930	991	35	4	23	4	PHOX2A	11	71950813	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	3120432	71950813	63055703	357	15485											
C2CD3	26005	broad.mit.edu	37	chr11	73753213	73753213	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcatgaaaccggcgaatgTtctgcacatgctcttcatgg	10	12	9	10	2	4	1	2	1	2	0	4	2	4	1	1	2	3	3	1	2	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:73753213T>A	ENST00000334126.7	-	29	5772	c.5546A>T	c.(5545-5547)aAc>aTc	p.N1849I	C2CD3_ENST00000313663.7_Missense_Mutation_p.N1849I			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1849						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCGGCGAATGTTCTGCACATG	0.433													39	56					0	0	0	0	A	73753213	T	A	73753213	3	1	80	1	0	0	0	0	1	0	0	0	2174	1725	60	5	357	5	C2CD3	11	73753213	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	1802400	73753213	61253303	358	15486											
TMEM135	65084	broad.mit.edu	37	chr11	87013387	87013387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacattctttttcaccagagGcagcatatgcaaaagtggaa	14	10	8	9	0	2	1	1	0	1	1	2	2	2	2	1	2	2	3	1	2	4	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:87013387G>A	ENST00000340353.7	+	7	737	c.535G>A	c.(535-537)Gca>Aca	p.A179T	TMEM135_ENST00000305494.5_Missense_Mutation_p.A201T|TMEM135_ENST00000535167.1_Missense_Mutation_p.A62T|TMEM135_ENST00000532959.1_Missense_Mutation_p.A72T	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	201						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCACCAGAGGCAGCATATGC	0.378													25	57					0	0	0	0	A	87013387	G	A	87013387	3	1	80	1	0	0	0	0	1	0	0	0	16145	1203	42	4	631	4	TMEM135	11	87013387	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	13260174	87013387	47993129	359	15487											
CNTN5	53942	broad.mit.edu	37	chr11	99827584	99827584	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttcccttcctttgtggcGgaagacagccggcggttcat	6	11	13	11	3	1	1	1	0	0	1	3	3	3	2	3	4	1	2	3	4	1	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:99827584G>T	ENST00000524871.1	+	8	1010	c.720G>T	c.(718-720)gcG>gcT	p.A240A	CNTN5_ENST00000279463.3_Silent_p.A240A|CNTN5_ENST00000418526.2_Silent_p.A166A|CNTN5_ENST00000527185.1_Silent_p.A240A|CNTN5_ENST00000528682.1_Silent_p.A240A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	240	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCTTTGTGGCGGAAGACAGCC	0.393													17	50					4.96729e-08	5.75469e-08	1	0	T	99827584	G	T	99827584	2	4	80	1	0	0	0	0	0	0	0	1	3674	1103	39	3		3	CNTN5	11	99827584	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	12814197	99827584	35178932	360	15488											
MMP10	4319	broad.mit.edu	37	chr11	102646043	102646043	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggttccagtgggatcttcgCcaaaaatatctgtaatacat	12	12	9	8	1	2	0	0	0	2	0	4	1	3	1	2	2	1	2	2	2	5	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:102646043C>T	ENST00000279441.4	-	7	978	c.942G>A	c.(940-942)tgG>tgA	p.W314*		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	314	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		GGGATCTTCGCCAAAAATATC	0.328													4	57					0	0	0	0	T	102646043	C	T	102646043	4	4	80	1	0	0	0	0	0	1	0	0	9718	740	26	4	504	4	MMP10	11	102646043	Nonsense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2818459	102646043	32360473	361	15489											
CASP5	838	broad.mit.edu	37	chr11	104869720	104869720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagatgagtgccaaggatgCtggagagtctctgacccaga	12	7	14	8	0	1	5	0	2	1	3	2	8	1	6	2	2	2	1	2	2	1	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:104869720C>T	ENST00000393141.2	-	7	1058	c.1027G>A	c.(1027-1029)Gca>Aca	p.A343T	CASP5_ENST00000260315.3_Missense_Mutation_p.A330T|CASP5_ENST00000531367.1_Missense_Mutation_p.A188T|CASP5_ENST00000418434.1_Missense_Mutation_p.A188T|CASP5_ENST00000444749.2_Missense_Mutation_p.A272T|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000526056.1_Missense_Mutation_p.A343T	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	330					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GCCAAGGATGCTGGAGAGTCT	0.418													26	59					0	0	0	0	T	104869720	C	T	104869720	3	4	80	1	0	0	0	0	1	0	0	0	2699	797	28	4	328	4	CASP5	11	104869720	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2223677	104869720	30136796	362	15490											
AASDHPPT	60496	broad.mit.edu	37	chr11	105967590	105967590	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcattttgggactgttttTgcttcacagaagaaattcca	10	16	7	8	0	2	2	2	0	0	2	3	3	3	3	1	1	1	2	1	1	2	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:105967590T>C	ENST00000278618.4	+	6	1108	c.886T>C	c.(886-888)Tgc>Cgc	p.C296R	RP11-677I18.3_ENST00000527594.1_RNA|RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	296					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GGACTGTTTTTGCTTCACAGA	0.378													11	48					0	0	0	0	C	105967590	T	C	105967590	3	2	80	1	0	0	0	0	1	0	0	0	23	1812	63	5	908	5	AASDHPPT	11	105967590	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	1097870	105967590	29038926	363	15491											
OR10G8	219869	broad.mit.edu	37	chr11	123900787	123900787	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttggctcagtggctctcTgcactctgctgtccaggcca	5	11	10	15	0	3	0	1	0	2	0	5	0	4	0	2	3	2	4	2	3	0	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:123900787T>A	ENST00000431524.1	+	1	491	c.458T>A	c.(457-459)cTg>cAg	p.L153Q		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGTGGCTCTCTGCACTCTGCT	0.552													51	115					0	0	0	0	A	123900787	T	A	123900787	3	1	80	1	0	0	0	0	1	0	0	0	10974	1580	55	5	460	5	OR10G8	11	123900787	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	17933197	123900787	11105729	364	15492											
VSIG2	23584	broad.mit.edu	37	chr11	124617497	124617497	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcagacgagggtctttccagGaaccccttgctagaatcagc	10	8	11	12	1	2	2	1	0	1	2	3	4	3	3	3	2	3	2	3	2	3	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:124617497G>A	ENST00000326621.5	-	7	1018	c.918C>T	c.(916-918)ttC>ttT	p.F306F	NRGN_ENST00000526916.2_3'UTR	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	306						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GTCTTTCCAGGAACCCCTTGC	0.562													6	66					0	0	0	0	A	124617497	G	A	124617497	2	1	80	1	0	0	0	0	0	0	0	1	17320	1165	41	2		2	VSIG2	11	124617497	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	716710	124617497	10389019	365	15493											
ROBO4	54538	broad.mit.edu	37	chr11	124761626	124761626	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgactgctgaggctgctgctGctgctcaggtcccgagagcc	5	8	14	14	2	1	2	1	1	0	1	2	4	2	2	2	2	6	6	2	2	0	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:124761626G>C	ENST00000306534.3	-	11	2105	c.1620C>G	c.(1618-1620)agC>agG	p.S540R	RP11-664I21.6_ENST00000524433.1_Intron|ROBO4_ENST00000533054.1_Missense_Mutation_p.S395R	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	540					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGCTGCTGCTGCTGCTCAGGT	0.662													12	20					0	0	0	0	C	124761626	G	C	124761626	3	2	80	1	0	0	0	0	1	0	0	0	13601	1310	46	4	1435	4	ROBO4	11	124761626	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	144129	124761626	10244890	366	15494											
FGF23	8074	broad.mit.edu	37	chr12	4479648	4479648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctcgggagctcctgtgaaCaggaggccggggccggggtc	5	5	19	12	4	0	1	0	1	0	0	3	3	1	3	3	7	2	2	3	7	1	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:4479648C>A	ENST00000237837.1	-	3	762	c.617G>T	c.(616-618)tGt>tTt	p.C206F		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	206					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CTCCTGTGAACAGGAGGCCGG	0.706													14	33					0.000308642	0.00032874	1	0	A	4479648	C	A	4479648	3	1	80	1	0	0	0	0	1	0	0	0	5897	478	17	4	142	4	FGF23	12	4479648	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08		4479648	129372247	367	15495											
TAS2R50	259296	broad.mit.edu	37	chr12	11139067	11139067	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaaagtccccaacagtatCaccagaatgacactcctaac	16	7	4	14	0	2	2	2	1	0	1	4	2	4	2	4	0	2	1	4	0	5	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:11139067C>T	ENST00000506868.1	-	1	444	c.393G>A	c.(391-393)gtG>gtA	p.V131V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	131					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						CCAACAGTATCACCAGAATGA	0.388													80	256					0	0	0	0	T	11139067	C	T	11139067	2	4	80	1	0	0	0	0	0	0	0	1	15675	813	29	2		2	TAS2R50	12	11139067	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	6659419	11139067	122712828	368	15496											
GRIN2B	2904	broad.mit.edu	37	chr12	13717318	13717318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggttctcctcacagggcgGgttgttgtaggatttgcagt	6	13	15	7	1	2	0	1	0	1	0	3	2	2	1	1	4	1	5	1	4	1	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:13717318G>T	ENST00000279593.3	-	13	3063	c.2854C>A	c.(2854-2856)Ccg>Acg	p.P952T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	952					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCACAGGGCGGGTTGTTGTAG	0.542													40	94					8.16904e-11	1.03545e-10	1	0	T	13717318	G	T	13717318	3	4	80	1	0	0	0	0	1	0	0	0	6830	1232	43	4	1604	4	GRIN2B	12	13717318	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2578251	13717318	120134577	369	15497											
PTPRO	5800	broad.mit.edu	37	chr12	15475702	15475702	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atacacggcgcccgccgcctCctgcctctgctctggctctt	3	10	9	19	4	3	0	0	0	3	0	4	0	4	0	5	2	3	2	5	2	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:15475702C>A	ENST00000281171.4	+	1	372	c.42C>A	c.(40-42)ctC>ctA	p.L14L	PTPRO_ENST00000543886.1_Silent_p.L14L|PTPRO_ENST00000348962.2_Silent_p.L14L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	14						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCCGCCGCCTCCTGCCTCTGC	0.741													10	21					1.15088e-07	1.31775e-07	1	0	A	15475702	C	A	15475702	2	1	80	1	0	0	0	0	0	0	0	1	12891	842	30	2		2	PTPRO	12	15475702	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1758384	15475702	118376193	370	15498											
GYS2	2998	broad.mit.edu	37	chr12	21721901	21721901	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcgctccatgcagtaccGgtggtaaatctgcctttccc	7	11	9	14	2	1	0	0	0	1	0	4	0	3	0	4	2	4	5	4	2	3	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:21721901G>C	ENST00000261195.2	-	5	975	c.721C>G	c.(721-723)Cgg>Ggg	p.R241G		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	241					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATGCAGTACCGGTGGTAAATC	0.433													24	112					0	0	0	0	C	21721901	G	C	21721901	3	2	80	1	0	0	0	0	1	0	0	0	6963	1115	39	3	1438	3	GYS2	12	21721901	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	6246199	21721901	112129994	371	15499											
ABCC9	10060	broad.mit.edu	37	chr12	22013989	22013989	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcatctgtgacagctttgtaCctttgggagaaatgattttg	9	15	11	6	0	1	3	0	2	1	1	1	4	1	3	1	1	2	3	1	1	2	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:22013989C>T	ENST00000261200.4	-	19	2339	c.2339_splice	c.e19-1	p.R780_splice	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Splice_Site_p.R744_splice|ABCC9_ENST00000261201.4_Splice_Site_p.R780_splice	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	780	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGCTTTGTACCTTTGGGAGA	0.333													23	99					0	0	0	0	T	22013989	C	T	22013989	5	4	80	1	0	0	0	0	0	0	1	0	59	521	18	4	2531	4	ABCC9	12	22013989	Splice_Site	SNP	C	TCGA-CN-5360-01A-01D-1434-08	292088	22013989	111837906	372	15500											
BICD1	636	broad.mit.edu	37	chr12	32480467	32480467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctggaacacaccaaggggGcactgacggagcagcatgag	13	3	15	10	1	0	2	0	2	0	0	0	4	0	4	1	4	4	4	1	4	2	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:32480467G>T	ENST00000548411.1	+	5	1259	c.1078G>T	c.(1078-1080)Gca>Tca	p.A360S	BICD1_ENST00000281474.5_Missense_Mutation_p.A360S	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	360					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CACCAAGGGGGCACTGACGGA	0.562													28	58					1.16021e-09	1.42333e-09	1	0	T	32480467	G	T	32480467	3	4	80	1	0	0	0	0	1	0	0	0	1433	1203	42	4	1096	4	BICD1	12	32480467	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	10466478	32480467	101371428	373	15501											
MFSD5	84975	broad.mit.edu	37	chr12	53647566	53647566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagcccatgcacctgctgtCccttgctgtgctcatcgtcg	4	12	9	16	2	2	0	2	0	0	0	5	0	3	0	3	0	5	4	3	0	0	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:53647566C>T	ENST00000534842.1	+	2	1415	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	MFSD5_ENST00000329548.4_Missense_Mutation_p.S316F	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	316					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CACCTGCTGTCCCTTGCTGTG	0.542													42	105					0	0	0	0	T	53647566	C	T	53647566	3	4	80	1	0	0	0	0	1	0	0	0	9603	855	30	2	1274	2	MFSD5	12	53647566	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	21167099	53647566	80204329	374	15502											
OR9K2	441639	broad.mit.edu	37	chr12	55523823	55523823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtattttttcctaggcaatCtctccttcattgatcttttc	6	21	4	10	0	3	1	1	1	2	0	7	1	5	1	2	1	0	2	2	1	3	9			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:55523823C>A	ENST00000305377.5	+	1	359	c.271C>A	c.(271-273)Ctc>Atc	p.L91I		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CCTAGGCAATCTCTCCTTCAT	0.408													68	278					2.69673e-31	4.39018e-31	1	0	A	55523823	C	A	55523823	3	1	80	1	0	0	0	0	1	0	0	0	11325	913	32	2	273	2	OR9K2	12	55523823	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1876257	55523823	78328072	375	15503											
OR6C76	390326	broad.mit.edu	37	chr12	55820376	55820376	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggagtttttcctcctggcCtctatgtcctatgattgcta	6	16	8	11	1	1	1	0	1	1	0	4	2	4	2	4	2	1	2	4	2	3	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:55820376C>T	ENST00000328314.3	+	1	339	c.339C>T	c.(337-339)gcC>gcT	p.A113A		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCCTCCTGGCCTCTATGTCCT	0.413													86	263					0	0	0	0	T	55820376	C	T	55820376	2	4	80	1	0	0	0	0	0	0	0	1	11271	668	24	4		4	OR6C76	12	55820376	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	296553	55820376	78031519	376	15504											
LRP1	4035	broad.mit.edu	37	chr12	57572180	57572180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcccgttacgacggctctgGccacatggaggtgcttcggg	6	8	15	12	4	1	0	0	0	1	0	2	2	1	1	2	5	3	3	2	5	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:57572180G>A	ENST00000243077.3	+	27	4866	c.4400G>A	c.(4399-4401)gGc>gAc	p.G1467D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1467					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACGGCTCTGGCCACATGGAG	0.582													16	54					0	0	0	0	A	57572180	G	A	57572180	3	1	80	1	0	0	0	0	1	0	0	0	9015	1203	42	4	4506	4	LRP1	12	57572180	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1751804	57572180	76279715	377	15505											
AGAP2	116986	broad.mit.edu	37	chr12	58125675	58125675	+	Silent	SNP	G	G	T																															cactgcagctgcctcggctcGgagctcccggtgaccaacat																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:58125675G>T	ENST00000257897.3	-	8	947	c.862C>A	c.(862-864)Cga>Aga	p.R288R	AGAP2_ENST00000547588.1_Silent_p.R624R	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	624	Interaction with PLCG1 (By similarity).				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						GCCTCGGCTCGGAGCTCCCGG	0.607													4	14					0.150653	0.152204	1	0	T	58125675	G	T	58125675	2	4	80	1	0	0	0	0	0	0	0	1	368	1124	39	3		3	AGAP2	12	58125675	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	553495	58125675	75726220	378	15506	135	2									
AGAP2	116986	broad.mit.edu	37	chr12	58125676	58125676	+	Silent	SNP	G	G	T																															actgcagctgcctcggctcgGagctcccggtgaccaacatt																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:58125676G>T	ENST00000257897.3	-	8	946	c.861C>A	c.(859-861)ctC>ctA	p.L287L	AGAP2_ENST00000547588.1_Silent_p.L623L	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	623	Interaction with PLCG1 (By similarity).				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						CCTCGGCTCGGAGCTCCCGGT	0.612													4	14					0.150653	0.152204	1	0	T	58125676	G	T	58125676	2	4	80	1	0	0	0	0	0	0	0	1	368	1161	41	2		2	AGAP2	12	58125676	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1	58125676	75726219	379	15507	135	2									
BEST3	144453	broad.mit.edu	37	chr12	70049538	70049538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcatggaatgccgatggcCatgcttctcataatcccaca	11	11	7	12	1	2	0	2	0	1	0	4	2	3	1	3	2	2	1	3	2	3	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:70049538C>A	ENST00000330891.5	-	10	1382	c.1156G>T	c.(1156-1158)Ggc>Tgc	p.G386C	BEST3_ENST00000488961.1_Missense_Mutation_p.G173C|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.G280C	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	386						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCCGATGGCCATGCTTCTCA	0.547													35	117					2.75727e-19	4.0389e-19	1	0	A	70049538	C	A	70049538	3	1	80	1	0	0	0	0	1	0	0	0	1410	594	21	4	854	4	BEST3	12	70049538	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	11923862	70049538	63802357	380	15508											
TRHDE	29953	broad.mit.edu	37	chr12	72866900	72866900	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagacgtgtggctgaaggaAgggtttgctcactactttga	10	11	14	6	1	1	3	1	2	0	1	1	5	1	4	0	3	2	3	0	3	4	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:72866900A>T	ENST00000261180.4	+	5	1485	c.1389A>T	c.(1387-1389)gaA>gaT	p.E463D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	463					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGCTGAAGGAAGGGTTTGCTC	0.408													41	151					0	0	0	0	T	72866900	A	T	72866900	3	4	80	1	0	0	0	0	1	0	0	0	16574	69	3	5	1407	5	TRHDE	12	72866900	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	2817362	72866900	60984995	381	15509											
TRHDE	29953	broad.mit.edu	37	chr12	72956721	72956721	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcctgttatcaccatctTgggaaacacaacagcagaaa	15	10	6	10	0	2	1	1	0	1	1	3	2	3	2	2	1	3	2	2	1	5	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:72956721T>C	ENST00000261180.4	+	9	1904	c.1808T>C	c.(1807-1809)tTg>tCg	p.L603S	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	603					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATCACCATCTTGGGAAACACA	0.338													60	168					0	0	0	0	C	72956721	T	C	72956721	3	2	80	1	0	0	0	0	1	0	0	0	16574	1821	63	5	1842	5	TRHDE	12	72956721	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	89821	72956721	60895174	382	15510											
NAV3	89795	broad.mit.edu	37	chr12	78444555	78444555	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgacagcaccctggagaCaacatttgacagcactgtga	13	9	9	10	0	0	4	0	3	0	1	0	5	0	4	1	1	3	2	1	1	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:78444555C>A	ENST00000397909.2	+	11	2317	c.2144C>A	c.(2143-2145)aCa>aAa	p.T715K	NAV3_ENST00000266692.7_Missense_Mutation_p.T715K|NAV3_ENST00000228327.6_Missense_Mutation_p.T715K|NAV3_ENST00000536525.2_Missense_Mutation_p.T715K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	715						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACCCTGGAGACAACATTTGAC	0.463										HNSCC(70;0.22)			23	96					4.7796e-09	5.71059e-09	1	0	A	78444555	C	A	78444555	3	1	80	1	0	0	0	0	1	0	0	0	10255	478	17	4	2186	4	NAV3	12	78444555	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	5487834	78444555	55407340	383	15511											
NAV3	89795	broad.mit.edu	37	chr12	78444857	78444857	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggacatgtcttctgaggtcGatgtgggtggatatatgagt	8	14	15	4	1	2	2	0	2	2	0	3	5	2	4	0	4	0	0	0	4	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:78444857G>C	ENST00000397909.2	+	11	2619	c.2446G>C	c.(2446-2448)Gat>Cat	p.D816H	NAV3_ENST00000266692.7_Missense_Mutation_p.D816H|NAV3_ENST00000228327.6_Missense_Mutation_p.D816H|NAV3_ENST00000536525.2_Missense_Mutation_p.D816H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	816						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTCTGAGGTCGATGTGGGTGG	0.493										HNSCC(70;0.22)			12	56					0	0	0	0	C	78444857	G	C	78444857	3	2	80	1	0	0	0	0	1	0	0	0	10255	1058	37	3	2488	3	NAV3	12	78444857	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	302	78444857	55407038	384	15512											
NAV3	89795	broad.mit.edu	37	chr12	78511909	78511909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgacagccatggggatgctGgtggcaagtggaagactgtg	9	9	17	6	0	0	2	0	1	0	1	0	4	0	4	1	5	2	2	1	5	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:78511909G>T	ENST00000397909.2	+	14	3045	c.2872G>T	c.(2872-2874)Ggt>Tgt	p.G958C	NAV3_ENST00000266692.7_Missense_Mutation_p.G958C|NAV3_ENST00000228327.6_Missense_Mutation_p.G958C|NAV3_ENST00000536525.2_Missense_Mutation_p.G958C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	958						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGGGATGCTGGTGGCAAGTG	0.522										HNSCC(70;0.22)			35	138					2.40579e-17	3.3938e-17	1	0	T	78511909	G	T	78511909	3	4	80	1	0	0	0	0	1	0	0	0	10255	1348	47	4	2926	4	NAV3	12	78511909	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	67052	78511909	55339986	385	15513											
NAV3	89795	broad.mit.edu	37	chr12	78562633	78562633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagcactgaatggtccagaCcatcctcccaaaggtatatt	12	9	9	11	0	0	2	0	1	0	1	3	3	3	3	4	3	1	2	4	3	4	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:78562633C>A	ENST00000397909.2	+	24	5141	c.4968C>A	c.(4966-4968)gaC>gaA	p.D1656E	NAV3_ENST00000266692.7_Missense_Mutation_p.D1479E|NAV3_ENST00000228327.6_Missense_Mutation_p.D1656E|NAV3_ENST00000536525.2_Missense_Mutation_p.D1656E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1656						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATGGTCCAGACCATCCTCCCA	0.378										HNSCC(70;0.22)			27	109					6.32553e-13	8.34096e-13	1	0	A	78562633	C	A	78562633	3	1	80	1	0	0	0	0	1	0	0	0	10255	506	18	4	5062	4	NAV3	12	78562633	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	50724	78562633	55289262	386	15514											
IKBIP	121457	broad.mit.edu	37	chr12	99020188	99020188	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagatcttcttcttcttgTctttttactgttctaatatt	7	22	5	7	0	6	1	0	0	6	1	6	2	6	1	0	1	1	1	0	1	3	11			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:99020188T>C	ENST00000299157.4	-	3	1027	c.654A>G	c.(652-654)agA>agG	p.R218R	IKBIP_ENST00000342502.2_Intron|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	219					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CTTCTTCTTGTCTTTTTACTG	0.408													51	120					0	0	0	0	C	99020188	T	C	99020188	2	2	80	1	0	0	0	0	0	0	0	1	7662	1664	58	5		5	IKBIP	12	99020188	Silent	SNP	T	TCGA-CN-5360-01A-01D-1434-08	20457555	99020188	34831707	387	15515											
GAS2L3	283431	broad.mit.edu	37	chr12	101012273	101012273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaacttgagaaagaaattGagttagaagagactttgctt	17	12	9	3	0	0	5	0	2	0	4	0	7	0	5	0	0	2	2	0	0	6	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:101012273G>C	ENST00000537247.1	+	8	1198	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	GAS2L3_ENST00000539410.1_Missense_Mutation_p.E186Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.E186Q|GAS2L3_ENST00000547754.1_Missense_Mutation_p.E186Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	186	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GAAAGAAATTGAGTTAGAAGA	0.423													26	74					0	0	0	0	C	101012273	G	C	101012273	3	2	80	1	0	0	0	0	1	0	0	0	6297	1291	45	2	578	2	GAS2L3	12	101012273	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1992085	101012273	32839622	388	15516											
STAB2	55576	broad.mit.edu	37	chr12	104044339	104044339	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctgttacctacagacaagGgactgaaaggattcaatgtg	13	10	11	7	0	1	2	1	1	0	1	1	4	1	4	1	2	3	2	1	2	5	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:104044339G>T	ENST00000388887.2	+	11	1444	c.1240G>T	c.(1240-1242)Gga>Tga	p.G414*		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	414	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TACAGACAAGGGACTGAAAGG	0.423													9	31					2.74318e-10	3.42648e-10	1	0	T	104044339	G	T	104044339	4	4	80	1	0	0	0	0	0	1	0	0	15328	1233	43	4	1282	4	STAB2	12	104044339	Nonsense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	3032066	104044339	29807556	389	15517											
STAB2	55576	broad.mit.edu	37	chr12	104106206	104106206	+	Frame_Shift_Del	DEL	G	G	-																															cagcaggattccaaggaaacGggaccatctgcacaggcaag																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:104106206delG	ENST00000388887.2	+	41	4600	c.4396delG	c.(4396-4398)ggfs	p.G1466fs		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1466	EGF-like 11.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.G1466R(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAAGGAAACGGGACCATCTG	0.512													35	97	---	---	---	---					-	104106206	G	-	104106206	7	5	80	1	0	1	0	1	0	0	0	0	15328	1116	39	0	4558	0	STAB2	12	104106206	Frame_Shift_Del	DEL	G	TCGA-CN-5360-01A-01D-1434-08	61867	104106206	29745689	390	15518											
POLR3B	55703	broad.mit.edu	37	chr12	106786921	106786921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaagctcagattttcaCacagatgcaggtgtgtcttt	11	12	9	9	0	3	3	2	0	1	3	3	3	3	3	1	1	2	2	1	1	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:106786921C>T	ENST00000228347.4	+	10	1058	c.836C>T	c.(835-837)aCa>aTa	p.T279I	POLR3B_ENST00000539066.1_Missense_Mutation_p.T221I	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	279					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAGATTTTCACACAGATGCAG	0.458													73	188					0	0	0	0	T	106786921	C	T	106786921	3	4	80	1	0	0	0	0	1	0	0	0	12301	478	17	4	874	4	POLR3B	12	106786921	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2680715	106786921	27064974	391	15519											
NAA25	80018	broad.mit.edu	37	chr12	112491432	112491432	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgcagcagcatactgacctAgagattcagcatatcgggtc	12	8	10	11	2	1	2	1	1	0	1	3	3	1	2	1	1	4	4	1	1	3	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:112491432A>G	ENST00000261745.4	-	15	1906	c.1658T>C	c.(1657-1659)cTa>cCa	p.L553P		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	553						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATACTGACCTAGAGATTCAGC	0.358													9	32					0	0	0	0	G	112491432	A	G	112491432	3	3	80	1	0	0	0	0	1	0	0	0	10191	420	15	5	1300	5	NAA25	12	112491432	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	5704511	112491432	21360463	392	15520											
TBX5	6910	broad.mit.edu	37	chr12	114793739	114793739	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggcacaggctcgctgggGggcgcagagctggcatacat	7	6	17	11	2	0	1	0	0	0	1	1	1	0	1	0	6	2	6	0	6	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:114793739G>T	ENST00000310346.4	-	9	1821	c.1155C>A	c.(1153-1155)ccC>ccA	p.P385P	TBX5_ENST00000405440.2_Silent_p.P385P|TBX5_ENST00000349716.5_Silent_p.P335P	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	385					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCTCGCTGGGGGGCGCAGAGC	0.632													10	86					7.48243e-07	8.41314e-07	1	0	T	114793739	G	T	114793739	2	4	80	1	0	0	0	0	0	0	0	1	15755	1219	43	4		4	TBX5	12	114793739	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2302307	114793739	19058156	393	15521											
DHX37	57647	broad.mit.edu	37	chr12	125470763	125470763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctttttcttcttccccGgtagaacgagcgcgttgctt	4	17	8	12	4	4	1	0	0	4	1	5	2	5	1	2	1	3	3	2	1	2	8			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:125470763G>A	ENST00000308736.2	-	2	253	c.155C>T	c.(154-156)cCg>cTg	p.P52L		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	52							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CTTCTTCCCCGGTAGAACGAG	0.493													50	129					0	0	0	0	A	125470763	G	A	125470763	3	1	80	1	0	0	0	0	1	0	0	0	4547	1116	39	1	3422	1	DHX37	12	125470763	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	10677024	125470763	8381132	394	15522											
GPR133	283383	broad.mit.edu	37	chr12	131620641	131620641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtacctcgtgggtctttgGcgtgcttgctgtcaacggtt	3	14	15	9	3	2	0	1	0	1	0	3	0	2	0	1	4	4	4	1	4	2	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:131620641G>A	ENST00000261654.5	+	22	2886	c.2327G>A	c.(2326-2328)gGc>gAc	p.G776D	GPR133_ENST00000535015.1_Missense_Mutation_p.G808D|GPR133_ENST00000376682.4_Missense_Mutation_p.G462D|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Missense_Mutation_p.G295D	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	776					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGGGTCTTTGGCGTGCTTGCT	0.617													10	48					0	0	0	0	A	131620641	G	A	131620641	3	1	80	1	0	0	0	0	1	0	0	0	6692	1203	42	4	2413	4	GPR133	12	131620641	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	6149878	131620641	2231254	395	15523											
GPR133	283383	broad.mit.edu	37	chr12	131621519	131621519	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcttccctttcttcccaggGactgttcatattcctctttc	4	19	4	14	0	4	0	1	0	3	0	8	1	7	1	3	1	0	1	3	1	1	8			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:131621519G>T	ENST00000261654.5	+	23	2955	c.2394_splice	c.e23-1	p.G799_splice	GPR133_ENST00000535015.1_Splice_Site_p.G831_splice|GPR133_ENST00000376682.4_Splice_Site_p.G485_splice|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Splice_Site_p.G318_splice	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	799					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTCCCAGGGACTGTTCATA	0.532													19	85					1.85244e-09	2.25643e-09	1	0	T	131621519	G	T	131621519	5	4	80	1	0	0	0	0	0	0	1	0	6692	1188	41	2	2486	2	GPR133	12	131621519	Splice_Site	SNP	G	TCGA-CN-5360-01A-01D-1434-08	878	131621519	2230376	396	15524											
POLE	5426	broad.mit.edu	37	chr12	133241050	133241050	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggagtaccagcgagcccTgagaggacaccacaaactgg	13	4	12	12	1	0	1	0	1	0	1	0	5	0	3	3	3	4	1	3	3	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:133241050T>A	ENST00000320574.5	-	22	2512		c.e22-2		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CAGCGAGCCCTGAGAGGACAC	0.602								DNA polymerases (catalytic subunits)					16	37					0	0	0	0	A	133241050	T	A	133241050	5	1	80	1	0	0	0	0	0	0	1	0	12268	1594	55	5	4505	5	POLE	12	133241050	Splice_Site	SNP	T	TCGA-CN-5360-01A-01D-1434-08	1619531	133241050	610845	397	15525											
RB1	5925	broad.mit.edu	37	chr13	49033970	49033970	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacaggcatttggaccaaGtaagaaaatcaagcacttca	17	7	9	8	0	2	2	2	0	0	2	2	4	2	3	1	2	1	3	1	2	5	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr13:49033970G>T	ENST00000267163.4	+	20	2244		c.e20+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(13)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTGGACCAAGTAAGAAAATC	0.393		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			9	27					7.48243e-07	8.41314e-07	1	0	T	49033970	G	T	49033970	5	4	80	1	0	0	0	0	0	0	1	0	13180	1043	36	4	2185	4	RB1	13	49033970	Splice_Site	SNP	G	TCGA-CN-5360-01A-01D-1434-08		49033970	66135908	398	15526											
MYCBP2	23077	broad.mit.edu	37	chr13	77633756	77633756	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctgagctactcgtggtggGtttgcctaggttcaagcaga	7	13	13	8	1	2	2	1	1	1	1	3	2	2	2	1	3	4	4	1	3	3	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr13:77633756G>C	ENST00000407578.2	-	77	13308	c.13042C>G	c.(13042-13044)Ccc>Gcc	p.P4348A	MYCBP2_ENST00000357337.6_Missense_Mutation_p.P4310A|MYCBP2_ENST00000544440.2_Missense_Mutation_p.P4310A	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTCGTGGTGGGTTTGCCTAGG	0.393													27	69					0	0	0	0	C	77633756	G	C	77633756	3	2	80	1	0	0	0	0	1	0	0	0	10088	1261	44	4	1022	4	MYCBP2	13	77633756	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	28599786	77633756	37536122	399	15527											
GPC5	2262	broad.mit.edu	37	chr13	92345593	92345593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtgcggatgttaatcctGaagaatttgtaaacagattt	12	15	10	4	1	0	3	0	1	0	2	1	4	1	4	1	2	2	2	1	2	5	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr13:92345593G>A	ENST00000377067.3	+	3	850	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	160						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGTTAATCCTGAAGAATTTGT	0.448													45	99					0	0	0	0	A	92345593	G	A	92345593	3	1	80	1	0	0	0	0	1	0	0	0	6650	1291	45	2	488	2	GPC5	13	92345593	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	14711837	92345593	22824285	400	15528											
MYO16	23026	broad.mit.edu	37	chr13	109472729	109472729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcatcaggcaaacccacaCctcgtgaactgtaatgagga	14	7	9	11	1	1	2	1	2	0	0	2	3	1	3	2	2	3	3	2	2	3	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr13:109472729C>A	ENST00000356711.2	+	8	972	c.846C>A	c.(844-846)caC>caA	p.H282Q	MYO16_ENST00000357550.2_Missense_Mutation_p.H282Q|MYO16_ENST00000251041.5_Missense_Mutation_p.H282Q	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	282					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAAACCCACACCTCGTGAACT	0.438													4	18					0.000602214	0.000637475	1	0	A	109472729	C	A	109472729	3	1	80	1	0	0	0	0	1	0	0	0	10134	506	18	4	872	4	MYO16	13	109472729	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	17127136	109472729	5697149	401	15529											
OR4K14	122740	broad.mit.edu	37	chr14	20482615	20482616	+	Frame_Shift_Ins	INS	-	-	A																															caaagaacagcgtcactaccINSatgatatgtgcagagcaagt																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:20482615_20482616insA	ENST00000305045.2	-	1	736_737	c.737_738insT	c.(736-738)agtfs	p.S246fs		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCGTCACTACCATGATATGTGC	0.49													9	33	---	---	---	---					A	20482616	-	A	20482615	7	5	80	1	0	1	1	0	0	0	0	0	11140	594	21	0	197	0	OR4K14	14	20482615	Frame_Shift_Ins	INS	-	TCGA-CN-5360-01A-01D-1434-08		20482615	86866925	402	15530											
PARP2	10038	broad.mit.edu	37	chr14	20818708	20818708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatctccagttcaacaacaaCaagtactatctgattcagct	15	11	4	11	0	4	1	2	1	2	0	5	1	4	1	1	0	5	3	1	0	7	4	rs139090502	by1000genomes	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:20818708C>A	ENST00000527915.1	+	5	392	c.387C>A	c.(385-387)aaC>aaA	p.N129K	PARP2_ENST00000429687.3_Missense_Mutation_p.N116K|PARP2_ENST00000250416.5_Missense_Mutation_p.N129K			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	129					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TCAACAACAACAAGTACTATC	0.363								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					19	99					1.00905e-13	1.35394e-13	1	0	A	20818708	C	A	20818708	3	1	80	1	0	0	0	0	1	0	0	0	11532	477	17	4	405	4	PARP2	14	20818708	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	336093	20818708	86530832	403	15531											
OR5AU1	390445	broad.mit.edu	37	chr14	21623117	21623117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cattccattgttttcctaccCcaaacctttattaaagcttt	10	17	2	12	0	0	0	0	0	0	0	2	0	2	0	5	0	3	2	5	0	5	9			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:21623117C>A	ENST00000304418.3	-	1	1105	c.1068G>T	c.(1066-1068)tgG>tgT	p.W356C		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	356					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TTTTCCTACCCCAAACCTTTA	0.428													15	95					4.7546e-09	5.69061e-09	1	0	A	21623117	C	A	21623117	3	1	80	1	0	0	0	0	1	0	0	0	11218	624	22	4	23	4	OR5AU1	14	21623117	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	804409	21623117	85726423	404	15532											
CHD8	57680	broad.mit.edu	37	chr14	21859702	21859702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcccggcgaggggcatcctCacccaccagcaaagtaccat	11	4	10	16	2	1	0	1	0	0	0	2	1	2	0	5	3	3	3	5	3	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:21859702C>T	ENST00000399982.2	-	35	7049	c.6985G>A	c.(6985-6987)Gag>Aag	p.E2329K	CHD8_ENST00000557364.1_Missense_Mutation_p.E2329K|CHD8_ENST00000430710.3_Missense_Mutation_p.E2050K	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2329					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGGGCATCCTCACCCACCAGC	0.557													13	35					0	0	0	0	T	21859702	C	T	21859702	3	4	80	1	0	0	0	0	1	0	0	0	3360	835	29	2	772	2	CHD8	14	21859702	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	236585	21859702	85489838	405	15533											
FOXA1	3169	broad.mit.edu	37	chr14	38061917	38061917	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgggacggaggagtaggcCtggagtggagacagcgagtg	10	4	20	7	3	0	1	0	0	0	1	0	7	0	5	2	6	1	1	2	6	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:38061917C>G	ENST00000250448.2	-	2	134		c.e2-1		FOXA1_ENST00000540786.1_Splice_Site|FOXA1_ENST00000545425.2_Splice_Site	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1						chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AGGAGTAGGCCTGGAGTGGAG	0.627													12	57					0	0	0	0	G	38061917	C	G	38061917	5	3	80	1	0	0	0	0	0	0	1	0	6034	695	24	4	1350	4	FOXA1	14	38061917	Splice_Site	SNP	C	TCGA-CN-5360-01A-01D-1434-08	16202215	38061917	69287623	406	15534											
PNN	5411	broad.mit.edu	37	chr14	39644596	39644596	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggatccgaatgacgtgaGgtaagggcctaacgggaact	11	6	16	8	4	0	2	0	2	0	0	1	5	1	4	2	4	2	1	2	4	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:39644596G>T	ENST00000216832.4	+	1	180	c.113_splice	c.e1+1	p.R38_splice	PNN_ENST00000556530.1_Splice_Site_p.R38_splice|RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000553331.1_Splice_Site_p.R38_splice	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	38	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AATGACGTGAGGTAAGGGCCT	0.582													6	19					3.59834e-05	3.88688e-05	1	0	T	39644596	G	T	39644596	5	4	80	1	0	0	0	0	0	0	1	0	12232	1014	35	4	115	4	PNN	14	39644596	Splice_Site	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1582679	39644596	67704944	407	15535											
LRFN5	145581	broad.mit.edu	37	chr14	42356187	42356187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattacaaatgatatgttcaGtggtctttccaatcttcatc	12	16	5	8	0	4	1	2	1	2	0	6	1	5	1	1	1	1	1	1	1	5	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:42356187G>A	ENST00000554171.1	+	5	2791	c.359G>A	c.(358-360)aGt>aAt	p.S120N	LRFN5_ENST00000298119.4_Missense_Mutation_p.S120N|LRFN5_ENST00000554120.1_Missense_Mutation_p.S120N			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	120						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GATATGTTCAGTGGTCTTTCC	0.373										HNSCC(30;0.082)			27	106					0	0	0	0	A	42356187	G	A	42356187	3	1	80	1	0	0	0	0	1	0	0	0	9005	1029	36	4	361	4	LRFN5	14	42356187	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2711591	42356187	64993353	408	15536											
GNG2	54331	broad.mit.edu	37	chr14	52433376	52433376	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcagaaaacccgtttaggGagaagaagtttttctgtgcc	11	12	10	8	1	2	3	1	0	1	3	2	4	2	3	2	1	2	2	2	1	5	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:52433376G>T	ENST00000335281.4	+	3	593	c.187G>T	c.(187-189)Gag>Tag	p.E63*	GNG2_ENST00000556766.1_Nonsense_Mutation_p.E63*|GNG2_ENST00000555472.1_Nonsense_Mutation_p.E63*|GNG2_ENST00000556752.1_Nonsense_Mutation_p.E63*|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000557376.1_Nonsense_Mutation_p.E102*|GNG2_ENST00000554736.1_Nonsense_Mutation_p.E63*|GNG2_ENST00000553432.1_Nonsense_Mutation_p.E94*	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	63					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	CCCGTTTAGGGAGAAGAAGTT	0.522													56	178					6.60958e-23	1.01357e-22	1	0	T	52433376	G	T	52433376	4	4	80	1	0	0	0	0	0	1	0	0	6578	1175	41	2	193	2	GNG2	14	52433376	Nonsense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	10077189	52433376	54916164	409	15537											
NID2	22795	broad.mit.edu	37	chr14	52520339	52520339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcttccagtcccacctcatAcgtccctcgacttaagggtg	7	11	8	15	2	2	0	1	0	1	0	6	1	5	0	4	1	1	0	4	1	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:52520339A>G	ENST00000216286.5	-	5	1386	c.1387T>C	c.(1387-1389)Tat>Cat	p.Y463H	NID2_ENST00000541773.1_Missense_Mutation_p.Y410H	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	463						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCCACCTCATACGTCCCTCGA	0.478													51	155					0	0	0	0	G	52520339	A	G	52520339	3	3	80	1	0	0	0	0	1	0	0	0	10485	391	14	5	2812	5	NID2	14	52520339	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	86963	52520339	54829201	410	15538											
DDHD1	80821	broad.mit.edu	37	chr14	53518577	53518577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cataccgagggcattatcttTattctgcattacattttccg	9	16	6	10	2	2	0	0	0	2	0	3	1	3	0	2	1	3	2	2	1	4	8			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:53518577T>C	ENST00000323669.5	-	12	2505	c.2506A>G	c.(2506-2508)Aaa>Gaa	p.K836E	DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000555621.1_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	836	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GCATTATCTTTATTCTGCATT	0.333													2	14					0	0	0	0	C	53518577	T	C	53518577	3	2	80	1	0	0	0	0	1	0	0	0	4358	1763	61	5	204	5	DDHD1	14	53518577	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	998238	53518577	53830963	411	15539											
KIAA0586	9786	broad.mit.edu	37	chr14	58927843	58927843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccatctcctaagtccaGaccacagagaccaaaagtaa	15	8	5	13	0	2	2	0	0	2	2	5	3	3	2	5	0	0	1	5	0	4	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:58927843G>T	ENST00000423743.3	+	15	2150	c.1892G>T	c.(1891-1893)aGa>aTa	p.R631I	KIAA0586_ENST00000354386.6_Missense_Mutation_p.R728I|KIAA0586_ENST00000556134.1_Missense_Mutation_p.R660I|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.R599I	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	599										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTAAGTCCAGACCACAGAGA	0.328													5	16					1.23904e-05	1.35545e-05	1	0	T	58927843	G	T	58927843	3	4	80	1	0	0	0	0	1	0	0	0	8237	942	33	2	1846	2	KIAA0586	14	58927843	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	5409266	58927843	48421697	412	15540											
DACT1	51339	broad.mit.edu	37	chr14	59112685	59112685	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgctgcctccgaccttcaGagtaagcacctgccaaaaac	11	6	9	15	2	1	1	1	0	0	1	2	2	2	1	5	1	4	3	5	1	3	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:59112685G>C	ENST00000395153.3	+	4	1380	c.1233G>C	c.(1231-1233)caG>caC	p.Q411H	DACT1_ENST00000556859.1_Missense_Mutation_p.Q167H|DACT1_ENST00000335867.4_Missense_Mutation_p.Q448H|DACT1_ENST00000395151.3_Missense_Mutation_p.Q167H|DACT1_ENST00000541264.2_Missense_Mutation_p.Q167H	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	448					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCGACCTTCAGAGTAAGCACC	0.602													15	43					0	0	0	0	C	59112685	G	C	59112685	3	2	80	1	0	0	0	0	1	0	0	0	4255	933	33	2	1358	2	DACT1	14	59112685	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	184842	59112685	48236855	413	15541											
RGS6	9628	broad.mit.edu	37	chr14	72961932	72961932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgagccatccaacccttgGatcagcgatgacgttgcttt	8	11	10	12	2	1	2	1	2	0	0	2	4	2	3	3	1	4	3	3	1	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:72961932G>T	ENST00000553530.1	+	13	1134	c.927G>T	c.(925-927)tgG>tgT	p.W309C	RGS6_ENST00000343854.6_Intron|RGS6_ENST00000555571.1_Missense_Mutation_p.W309C|RGS6_ENST00000406236.4_Missense_Mutation_p.W309C|RGS6_ENST00000434263.2_Missense_Mutation_p.W240C|RGS6_ENST00000355512.6_Missense_Mutation_p.W309C|RGS6_ENST00000554782.1_Missense_Mutation_p.W170C|RGS6_ENST00000404301.2_Missense_Mutation_p.W309C|RGS6_ENST00000407322.4_Missense_Mutation_p.W309C|RGS6_ENST00000553525.1_Missense_Mutation_p.W309C|RGS6_ENST00000556437.1_Missense_Mutation_p.W309C|RGS6_ENST00000402788.2_Missense_Mutation_p.W309C	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	309	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCAACCCTTGGATCAGCGATG	0.433													81	201					2.61895e-37	4.34594e-37	1	0	T	72961932	G	T	72961932	3	4	80	1	0	0	0	0	1	0	0	0	13392	1183	41	2	973	2	RGS6	14	72961932	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	13849247	72961932	34387608	414	15542											
NRXN3	9369	broad.mit.edu	37	chr14	79175791	79175791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcccaatggcctgatcCtcttcactcatggaaagccc	10	8	8	15	0	3	2	2	1	1	1	4	3	4	3	4	2	2	0	4	2	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:79175791C>A	ENST00000554719.1	+	4	825	c.334C>A	c.(334-336)Ctc>Atc	p.L112I	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.L112I	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	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)		TGGCCTGATCCTCTTCACTCA	0.517													54	127					1.87854e-15	2.58112e-15	1	0	A	79175791	C	A	79175791	3	1	80	1	0	0	0	0	1	0	0	0	10738	681	24	4	340	4	NRXN3	14	79175791	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	6213859	79175791	28173749	415	15543											
RCOR1	23186	broad.mit.edu	37	chr14	103188649	103188649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatagatgaagttttacaaGaatgggaggcagaacatggt	16	9	12	4	0	0	4	0	1	0	3	0	5	0	5	0	3	2	2	0	3	6	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:103188649G>A	ENST00000262241.6	+	11	1541	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	RCOR1_ENST00000570597.1_Missense_Mutation_p.E436K	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	436					blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						AGTTTTACAAGAATGGGAGGC	0.428													47	135					0	0	0	0	A	103188649	G	A	103188649	3	1	80	1	0	0	0	0	1	0	0	0	13264	943	33	2	1348	2	RCOR1	14	103188649	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	24012858	103188649	4160891	416	15544											
CDC42BPB	9578	broad.mit.edu	37	chr14	103418843	103418843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacgacactcaccctcgcagGcgtagccctgccggatcagc	9	5	10	17	4	2	0	2	0	0	0	3	2	2	1	3	2	4	2	3	2	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:103418843G>C	ENST00000361246.2	-	24	3452	c.3164C>G	c.(3163-3165)gCc>gGc	p.A1055G		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1055					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ACCCTCGCAGGCGTAGCCCTG	0.637													3	27					0	0	0	0	C	103418843	G	C	103418843	3	2	80	1	0	0	0	0	1	0	0	0	3102	1203	42	4	2027	4	CDC42BPB	14	103418843	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	230194	103418843	3930697	417	15545											
GABRB3	2562	broad.mit.edu	37	chr15	26793136	26793136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcgcccatgcccttctCgaggcatgctctgtttcctg	5	12	10	14	2	2	0	0	0	2	0	5	2	3	1	3	2	2	3	3	2	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:26793136C>A	ENST00000541819.2	-	10	1496	c.1394G>T	c.(1393-1395)cGa>cTa	p.R465L	GABRB3_ENST00000545868.1_Missense_Mutation_p.R324L|GABRB3_ENST00000299267.4_Missense_Mutation_p.R409L|GABRB3_ENST00000400188.3_Missense_Mutation_p.R338L|GABRB3_ENST00000311550.5_Missense_Mutation_p.R409L			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	409					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	ATGCCCTTCTCGAGGCATGCT	0.488													33	93					5.91797e-21	8.89637e-21	1	0	A	26793136	C	A	26793136	3	1	80	1	0	0	0	0	1	0	0	0	6216	884	31	3	199	3	GABRB3	15	26793136	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08		26793136	75738256	418	15546											
HERC2	8924	broad.mit.edu	37	chr15	28388011	28388011	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagctgtttgccaccccTcacaataggatcttcatatt	10	12	7	12	0	3	0	2	0	1	0	3	2	3	1	3	1	3	3	3	1	3	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:28388011T>A	ENST00000261609.7	-	75	11614	c.11506A>T	c.(11506-11508)Agg>Tgg	p.R3836W		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3836					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTGCCACCCCTCACAATAGGA	0.408													5	17					0	0	0	0	A	28388011	T	A	28388011	3	1	80	1	0	0	0	0	1	0	0	0	7108	1550	54	5	3074	5	HERC2	15	28388011	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	1594875	28388011	74143381	419	15547											
FBN1	2200	broad.mit.edu	37	chr15	48714173	48714173	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggacgtatggtgttgggTaaatccgggaggacatttgc	9	10	16	6	2	0	0	0	0	0	0	1	3	1	3	1	5	1	4	1	5	3	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:48714173T>A	ENST00000316623.5	-	61	8001	c.7546A>T	c.(7546-7548)Acc>Tcc	p.T2516S		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2516	EGF-like 43; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGGTGTTGGGTAAATCCGGGA	0.433													14	47					0	0	0	0	A	48714173	T	A	48714173	3	1	80	1	0	0	0	0	1	0	0	0	5747	1638	57	5	1093	5	FBN1	15	48714173	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	20326162	48714173	53817219	420	15548											
AP4E1	23431	broad.mit.edu	37	chr15	51221213	51221213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgtcttcagggagattGtacgaagaaaagctgttctg	10	15	11	5	1	3	2	1	0	2	2	3	4	3	2	0	1	2	3	0	1	4	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:51221213G>T	ENST00000261842.5	+	6	656	c.550G>T	c.(550-552)Gta>Tta	p.V184L	AP4E1_ENST00000560508.1_Missense_Mutation_p.V109L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	184					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CAGGGAGATTGTACGAAGAAA	0.328													16	58					0.0332995	0.0339418	1	0	T	51221213	G	T	51221213	3	4	80	1	0	0	0	0	1	0	0	0	753	1377	48	4	572	4	AP4E1	15	51221213	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2507040	51221213	51310179	421	15549											
CCPG1	9236	broad.mit.edu	37	chr15	55669217	55669217	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagtcttctgaactctgTgcttcttcaacaatgacaac	12	14	5	10	0	5	2	1	2	4	0	5	2	5	2	0	0	4	1	0	0	6	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:55669217T>C	ENST00000310958.6	-	5	682	c.384A>G	c.(382-384)gcA>gcG	p.A128A	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Silent_p.A128A|CCPG1_ENST00000425574.3_Silent_p.A128A|CCPG1_ENST00000569205.1_Silent_p.A128A	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	128	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		CTGAACTCTGTGCTTCTTCAA	0.388													43	108					0	0	0	0	C	55669217	T	C	55669217	2	2	80	1	0	0	0	0	0	0	0	1	2967	1683	59	5		5	CCPG1	15	55669217	Silent	SNP	T	TCGA-CN-5360-01A-01D-1434-08	4448004	55669217	46862175	422	15550											
ALDH1A2	8854	broad.mit.edu	37	chr15	58287338	58287338	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtaaaatagtctccatCtgaaagaaaaaagcatggtc	19	8	8	6	0	2	2	0	1	2	1	4	2	2	2	1	2	1	2	1	2	8	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:58287338C>A	ENST00000249750.4	-	5	1261		c.e5-1		ALDH1A2_ENST00000347587.3_Splice_Site|ALDH1A2_ENST00000537372.1_Splice_Site|ALDH1A2_ENST00000558231.1_Splice_Site|ALDH1A2_ENST00000559517.1_Splice_Site	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2						negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TAGTCTCCATCTGAAAGAAAA	0.358													37	108					8.73648e-17	1.21991e-16	1	0	A	58287338	C	A	58287338	5	1	80	1	0	0	0	0	0	0	1	0	491	927	32	2	1099	2	ALDH1A2	15	58287338	Splice_Site	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2618121	58287338	44244054	423	15551											
SLTM	79811	broad.mit.edu	37	chr15	59182658	59182658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctctctgcaatctctcttCgtctaccaaaaatcagtatt	10	15	3	13	1	6	0	1	0	5	0	9	0	6	0	1	0	2	2	1	0	5	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:59182658C>T	ENST00000380516.2	-	15	1988	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.R203Q	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	634	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AATCTCTCTTCGTCTACCAAA	0.403													34	128					0	0	0	0	T	59182658	C	T	59182658	3	4	80	1	0	0	0	0	1	0	0	0	14842	884	31	1	1231	1	SLTM	15	59182658	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	895320	59182658	43348734	424	15552											
ZNF609	23060	broad.mit.edu	37	chr15	64967929	64967929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagttccagtcagcagccctCggtcatccagcagcgtccca	8	7	9	17	2	2	0	2	0	0	0	6	0	5	0	4	1	4	3	4	1	0	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:64967929C>T	ENST00000326648.3	+	4	3004	c.2876C>T	c.(2875-2877)tCg>tTg	p.S959L		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	959						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCAGCCCTCGGTCATCCAG	0.507													53	146					0	0	0	0	T	64967929	C	T	64967929	3	4	80	1	0	0	0	0	1	0	0	0	18130	893	31	1	2890	1	ZNF609	15	64967929	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	5785271	64967929	37563463	425	15553											
MAP2K5	5607	broad.mit.edu	37	chr15	67873100	67873100	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctttgcagtattattcCacagtaatggaacagcaagt	13	13	7	8	0	1	0	0	0	1	0	3	1	2	1	1	1	3	4	1	1	5	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:67873100C>T	ENST00000178640.5	+	4	888	c.261C>T	c.(259-261)tcC>tcT	p.S87S	MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000354498.5_Silent_p.S51S|MAP2K5_ENST00000395476.2_Silent_p.S87S	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	87	OPR.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						AGTATTATTCCACAGTAATGG	0.328													41	136					0	0	0	0	T	67873100	C	T	67873100	2	4	80	1	0	0	0	0	0	0	0	1	9309	581	21	4		4	MAP2K5	15	67873100	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2905171	67873100	34658292	426	15554											
HCN4	10021	broad.mit.edu	37	chr15	73659940	73659940	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggagaatttgttgaccccGggttggagcatggccccgaa	9	8	15	9	2	0	2	0	1	0	1	0	5	0	3	4	4	1	3	4	4	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:73659940G>A	ENST00000261917.3	-	1	1665	c.672C>T	c.(670-672)ccC>ccT	p.P224P		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	224	Involved in subunit assembly (By similarity).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGTTGACCCCGGGTTGGAGCA	0.652													15	53					0	0	0	0	A	73659940	G	A	73659940	2	1	80	1	0	0	0	0	0	0	0	1	7049	1103	39	1		1	HCN4	15	73659940	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	5786840	73659940	28871452	427	15555											
IREB2	3658	broad.mit.edu	37	chr15	78780136	78780136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacagcacccttatcagacGcagttttaaatgcagtaaaa	16	10	6	9	1	1	1	1	0	0	1	1	1	1	1	1	0	3	5	1	0	6	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:78780136G>T	ENST00000258886.8	+	14	1920	c.1771G>T	c.(1771-1773)Gca>Tca	p.A591S		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	591							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CTTATCAGACGCAGTTTTAAA	0.313													16	86					4.96729e-08	5.75469e-08	1	0	T	78780136	G	T	78780136	3	4	80	1	0	0	0	0	1	0	0	0	7879	1087	38	3	1825	3	IREB2	15	78780136	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	5120196	78780136	23751256	428	15556											
AGBL1	123624	broad.mit.edu	37	chr15	87089303	87089303	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggctgtagcatcaaggaaaCcttgtggcaagcagcatgca	12	8	12	9	0	1	0	1	0	0	0	1	1	1	1	1	3	5	7	1	3	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:87089303C>G	ENST00000441037.2	+	19	2713	c.2618C>G	c.(2617-2619)aCc>aGc	p.T873S	AGBL1_ENST00000389298.3_Missense_Mutation_p.T604S|AGBL1_ENST00000421325.2_Missense_Mutation_p.T873S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	873					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATCAAGGAAACCTTGTGGCAA	0.463													7	32					0	0	0	0	G	87089303	C	G	87089303	3	3	80	1	0	0	0	0	1	0	0	0	375	507	18	4	2688	4	AGBL1	15	87089303	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	8309167	87089303	15442089	429	15557											
IGF1R	3480	broad.mit.edu	37	chr15	99456390	99456390	+	Missense_Mutation	SNP	T	T	A																															gagcccggcatcttactacaTgggctgaagccctggactca																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:99456390T>A	ENST00000268035.6	+	8	2318	c.1707T>A	c.(1705-1707)caT>caA	p.H569Q	IGF1R_ENST00000558762.1_Missense_Mutation_p.H569Q	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	569	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TCTTACTACATGGGCTGAAGC	0.582													28	65					0	0	0	0	A	99456390	T	A	99456390	3	1	80	1	0	0	0	0	1	0	0	0	7624	1461	51	5	1737	5	IGF1R	15	99456390	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	12367087	99456390	3075002	430	15558	136	2									
IGF1R	3480	broad.mit.edu	37	chr15	99456391	99456391	+	Missense_Mutation	SNP	G	G	T																															agcccggcatcttactacatGggctgaagccctggactcag																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:99456391G>T	ENST00000268035.6	+	8	2319	c.1708G>T	c.(1708-1710)Ggg>Tgg	p.G570W	IGF1R_ENST00000558762.1_Missense_Mutation_p.G570W	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	570	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CTTACTACATGGGCTGAAGCC	0.577													29	68					6.00712e-18	8.57982e-18	1	0	T	99456391	G	T	99456391	3	4	80	1	0	0	0	0	1	0	0	0	7624	1348	47	4	1738	4	IGF1R	15	99456391	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1	99456391	3075001	431	15559	136	2									
LYSMD4	145748	broad.mit.edu	37	chr15	100269708	100269708	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatatcctggtcaatcccctTaaagaagcccatcagttggc	12	10	7	12	0	2	1	2	0	0	1	4	1	4	1	4	2	1	1	4	2	6	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:100269708T>A	ENST00000545021.1	-	4	947	c.133A>T	c.(133-135)Aag>Tag	p.K45*	LYSMD4_ENST00000332728.4_Nonsense_Mutation_p.K171*|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000344791.2_Nonsense_Mutation_p.K172*|LYSMD4_ENST00000409796.1_Nonsense_Mutation_p.K171*			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	171					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			TCAATCCCCTTAAAGAAGCCC	0.582													40	103					0	0	0	0	A	100269708	T	A	100269708	4	1	80	1	0	0	0	0	0	1	0	0	9192	1763	61	5	383	5	LYSMD4	15	100269708	Nonsense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	813317	100269708	2261684	432	15560											
RHOT2	89941	broad.mit.edu	37	chr16	720765	720765	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgacgaagagctcaacGctttccaggtgtgcccctgc	8	9	11	13	2	2	2	2	1	0	1	3	3	3	2	3	1	4	2	3	1	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:720765G>C	ENST00000315082.4	+	9	745	c.631G>C	c.(631-633)Gct>Cct	p.A211P	RHOT2_ENST00000569943.2_Intron	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	211	EF-hand 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				AGAGCTCAACGCTTTCCAGGT	0.662													19	39					0	0	0	0	C	720765	G	C	720765	3	2	80	1	0	0	0	0	1	0	0	0	13427	1087	38	3	665	3	RHOT2	16	720765	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08		720765	89633988	433	15561											
NLRC3	197358	broad.mit.edu	37	chr16	3614575	3614575	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagccggtccagggcgacGgtcctggcggggtgcccgcc	5	4	18	14	5	0	1	0	0	0	1	2	2	2	1	5	6	2	0	5	6	1	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:3614575G>T	ENST00000301749.7	-	0	768				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGGGCGACGGTCCTGGCGG	0.706													12	25					1.05317e-09	1.29665e-09	1	0	T	3614575	G	T	3614575	1	4	80	0	1	0	0	0	0	0	0	0	10538	1103	39	3		3	NLRC3	16	3614575	RNA	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2893810	3614575	86740178	434	15562											
LITAF	9516	broad.mit.edu	37	chr16	11650502	11650502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggggtaataactgttaaCagccactgtctcttcatagg	10	13	10	8	0	2	0	1	0	1	0	3	0	2	0	1	3	3	2	1	3	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:11650502C>A	ENST00000571688.1	-	2	315	c.85G>T	c.(85-87)Gtt>Ttt	p.V29F	LITAF_ENST00000413364.2_Missense_Mutation_p.V29F|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000574763.1_Missense_Mutation_p.V29F|LITAF_ENST00000576036.1_Missense_Mutation_p.V29F|LITAF_ENST00000570904.1_Missense_Mutation_p.V29F|LITAF_ENST00000574703.1_Missense_Mutation_p.V29F|LITAF_ENST00000571976.1_Missense_Mutation_p.V29F|LITAF_ENST00000571459.1_Missense_Mutation_p.V29F|LITAF_ENST00000339430.5_Missense_Mutation_p.V29F|LITAF_ENST00000381810.3_Missense_Mutation_p.V29F	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	29					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						TAACTGTTAACAGCCACTGTC	0.547													27	56					3.80469e-20	5.6699e-20	1	0	A	11650502	C	A	11650502	3	1	80	1	0	0	0	0	1	0	0	0	8885	478	17	4	498	4	LITAF	16	11650502	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	8035927	11650502	78704251	435	15563											
PDILT	204474	broad.mit.edu	37	chr16	20410587	20410587	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacagcagagacacaagcGgccaccagcagcaggggcat	13	2	14	12	1	0	1	0	0	0	1	0	3	0	2	2	4	4	4	2	4	1	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:20410587G>T	ENST00000302451.4	-	2	284	c.36C>A	c.(34-36)gcC>gcA	p.A12A		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	12					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGACACAAGCGGCCACCAGCA	0.592													15	103					5.01169e-05	5.38816e-05	1	0	T	20410587	G	T	20410587	2	4	80	1	0	0	0	0	0	0	0	1	11745	1103	39	3		3	PDILT	16	20410587	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	8760085	20410587	69944166	436	15564											
ACSM2B	348158	broad.mit.edu	37	chr16	20570737	20570737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccccttcccattcacccaCcacagggctgggcttgggag	6	9	10	16	0	1	0	1	0	0	0	3	1	3	1	5	3	0	2	5	3	0	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:20570737C>A	ENST00000329697.6	-	3	378	c.210G>T	c.(208-210)tgG>tgT	p.W70C	ACSM2B_ENST00000567001.1_Missense_Mutation_p.W70C|ACSM2B_ENST00000565232.1_Missense_Mutation_p.W70C|ACSM2B_ENST00000565322.1_5'UTR|ACSM2B_ENST00000414188.2_Missense_Mutation_p.W70C	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	70					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CATTCACCCACCACAGGGCTG	0.532													8	27					3.86212e-05	4.15874e-05	1	0	A	20570737	C	A	20570737	3	1	80	1	0	0	0	0	1	0	0	0	184	508	18	4	1571	4	ACSM2B	16	20570737	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	160150	20570737	69784016	437	15565											
LOC81691	81691	broad.mit.edu	37	chr16	20824541	20824541	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctaccattttatttacTgacaactgtgaagtaaccca	13	15	4	9	0	1	2	0	2	1	0	1	2	1	2	2	0	4	1	2	0	7	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:20824541T>C	ENST00000261377.6	+	3	377	c.168T>C	c.(166-168)acT>acC	p.T56T	AC004381.6_ENST00000567297.1_3'UTR|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Silent_p.T56T|AC004381.6_ENST00000348433.6_Silent_p.T56T	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TTTTATTTACTGACAACTGTG	0.383													23	58					0	0	0	0	C	20824541	T	C	20824541	2	2	80	1	0	0	0	0	0	0	0	1	8954	1567	55	5		5	LOC81691	16	20824541	Silent	SNP	T	TCGA-CN-5360-01A-01D-1434-08	253804	20824541	69530212	438	15566											
DNAH3	55567	broad.mit.edu	37	chr16	21038393	21038393	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctcgaggtcggcgggctcGaagatcaggctcatcttgga	7	9	15	10	4	3	1	2	0	1	1	6	4	3	2	0	5	1	3	0	5	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:21038393G>A	ENST00000261383.3	-	38	5495	c.5496C>T	c.(5494-5496)ttC>ttT	p.F1832F	DNAH3_ENST00000415178.1_Silent_p.F1832F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1832	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGGCGGGCTCGAAGATCAGGC	0.572													10	40					0	0	0	0	A	21038393	G	A	21038393	2	1	80	1	0	0	0	0	0	0	0	1	4640	1049	37	1		1	DNAH3	16	21038393	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	213852	21038393	69316360	439	15567											
DNAH3	55567	broad.mit.edu	37	chr16	21117970	21117970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctcactgactttgtctgCgatgtggctgtactgattac	8	14	9	10	1	2	2	1	2	1	0	2	3	2	2	1	1	4	2	1	1	3	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:21117970C>T	ENST00000261383.3	-	15	2124	c.2125G>A	c.(2125-2127)Gca>Aca	p.A709T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A709T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	709	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTTTGTCTGCGATGTGGCTG	0.413													17	75					0	0	0	0	T	21117970	C	T	21117970	3	4	80	1	0	0	0	0	1	0	0	0	4640	768	27	1	10416	1	DNAH3	16	21117970	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	79577	21117970	69236783	440	15568											
RBBP6	5930	broad.mit.edu	37	chr16	24581745	24581745	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctagcaaagttaaacaagAaaaagtcaaaggaaaggtca	22	6	8	5	0	3	1	2	0	1	1	3	2	3	2	0	2	2	2	0	2	9	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:24581745A>C	ENST00000319715.4	+	17	4166	c.3734A>C	c.(3733-3735)gAa>gCa	p.E1245A	RBBP6_ENST00000348022.2_Missense_Mutation_p.E1211A|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1245					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTAAACAAGAAAAAGTCAAA	0.408													16	56					0	0	0	0	C	24581745	A	C	24581745	3	2	80	1	0	0	0	0	1	0	0	0	13185	246	9	5	3854	5	RBBP6	16	24581745	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	3463775	24581745	65773008	441	15569											
GTF3C1	2975	broad.mit.edu	37	chr16	27556684	27556684	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcaaggacttggttcTgatgtcattggtaatgtttt	8	16	12	5	0	2	1	1	1	1	0	2	2	2	2	0	4	1	5	0	4	2	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:27556684T>C	ENST00000356183.4	-	2	397	c.382A>G	c.(382-384)Aga>Gga	p.R128G	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R128G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	128						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GACTTGGTTCTGATGTCATTG	0.473													66	179					0	0	0	0	C	27556684	T	C	27556684	3	2	80	1	0	0	0	0	1	0	0	0	6922	1588	55	5	6091	5	GTF3C1	16	27556684	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	2974939	27556684	62798069	442	15570											
ZNF668	79759	broad.mit.edu	37	chr16	31072937	31072937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaactctcacctgccaCgcccacaggcagcgccaacc	9	4	9	19	2	1	1	1	1	1	0	2	1	1	1	5	2	4	2	5	2	2	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:31072937C>A	ENST00000538906.1	-	3	2096	c.1312G>T	c.(1312-1314)Gtg>Ttg	p.V438L	ZNF668_ENST00000300849.4_Missense_Mutation_p.V438L|ZNF668_ENST00000394983.2_Missense_Mutation_p.V438L|ZNF668_ENST00000535577.1_Missense_Mutation_p.V438L|ZNF668_ENST00000426488.2_Missense_Mutation_p.V461L|ZNF668_ENST00000539836.3_Missense_Mutation_p.V461L|ZNF668_ENST00000417110.2_Missense_Mutation_p.T42K	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V438M(1)|p.V461M(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCACCTGCCACGCCCACAGGC	0.716													26	88					4.02929e-09	4.84785e-09	1	0	A	31072937	C	A	31072937	3	1	80	1	0	0	0	0	1	0	0	0	18170	536	19	3	551	3	ZNF668	16	31072937	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	3516253	31072937	59281816	443	15571											
IRX5	10265	broad.mit.edu	37	chr16	54965210	54965210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcatttcggggccccgcacgGatgagctcggccgctcttct	4	10	12	15	5	3	1	1	1	2	0	5	2	3	2	3	4	1	3	3	4	0	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:54965210G>A	ENST00000394636.4	+	1	437	c.100G>A	c.(100-102)Gat>Aat	p.D34N	IRX5_ENST00000320990.5_Missense_Mutation_p.D34N|IRX5_ENST00000560154.1_Missense_Mutation_p.D34N			P78411	IRX5_HUMAN	iroquois homeobox 5	34					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCCCCGCACGGATGAGCTCGG	0.672													11	22					0	0	0	0	A	54965210	G	A	54965210	3	1	80	1	0	0	0	0	1	0	0	0	7900	1174	41	2	102	2	IRX5	16	54965210	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	23892273	54965210	35389543	444	15572											
NFAT5	10725	broad.mit.edu	37	chr16	69726060	69726060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagcagcagatttcatcaAatatttttccatcaccaaat	15	13	3	10	0	3	1	3	0	0	1	4	1	4	1	2	0	3	2	2	0	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:69726060A>G	ENST00000349945.1	+	14	3602	c.2050A>G	c.(2050-2052)Aat>Gat	p.N684D	NFAT5_ENST00000567239.1_Missense_Mutation_p.N777D|NFAT5_ENST00000354436.2_Missense_Mutation_p.N760D|NFAT5_ENST00000566899.1_Missense_Mutation_p.N684D|NFAT5_ENST00000432919.1_Missense_Mutation_p.N778D|NFAT5_ENST00000393742.2_Missense_Mutation_p.N684D	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	760					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GATTTCATCAAATATTTTTCC	0.443													4	65					0	0	0	0	G	69726060	A	G	69726060	3	3	80	1	0	0	0	0	1	0	0	0	10430	14	1	5	2382	5	NFAT5	16	69726060	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	14760850	69726060	20628693	445	15573											
HSD17B2	3294	broad.mit.edu	37	chr16	82131825	82131825	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaactcgttagccagcaaGgacttctctccggtgctgcg	8	10	10	13	3	2	0	1	0	1	0	5	1	3	1	2	2	5	3	2	2	3	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:82131825G>A	ENST00000199936.4	+	5	1141	c.948G>A	c.(946-948)aaG>aaA	p.K316K	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	316					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TAGCCAGCAAGGACTTCTCTC	0.542													39	73					0	0	0	0	A	82131825	G	A	82131825	2	1	80	1	0	0	0	0	0	0	0	1	7434	991	35	4		4	HSD17B2	16	82131825	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	12405765	82131825	8222928	446	15574											
TEKT1	83659	broad.mit.edu	37	chr17	6718618	6718618	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagattgtacttggcagagcGgttcatcctgaagggagaaa	13	9	13	6	1	1	4	1	1	0	3	2	5	2	4	1	3	2	3	1	3	4	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:6718618G>T	ENST00000338694.2	-	5	622	c.493C>A	c.(493-495)Cgc>Agc	p.R165S	TEKT1_ENST00000535086.1_Missense_Mutation_p.R19S	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	165					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTGGCAGAGCGGTTCATCCTG	0.498													34	72					8.4185e-14	1.13402e-13	1	0	T	6718618	G	T	6718618	3	4	80	1	0	0	0	0	1	0	0	0	15846	1116	39	3	779	3	TEKT1	17	6718618	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08		6718618	74476592	447	15575											
SLC2A4	6517	broad.mit.edu	37	chr17	7188426	7188426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttgttggtggagcgggCggggcgccggacgctccatc	3	8	20	10	5	0	0	0	0	0	0	2	2	1	2	2	7	1	3	2	7	0	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:7188426C>A	ENST00000317370.8	+	9	1308	c.1040C>A	c.(1039-1041)gCg>gAg	p.A347E	SLC2A4_ENST00000424875.2_Missense_Mutation_p.A337E|SLC2A4_ENST00000571308.1_Missense_Mutation_p.A347E	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	347					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTGGAGCGGGCGGGGCGCCGG	0.667													10	7					0.000442599	0.000469963	1	0	A	7188426	C	A	7188426	3	1	80	1	0	0	0	0	1	0	0	0	14634	768	27	3	1074	3	SLC2A4	17	7188426	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	469808	7188426	74006784	448	15576											
TP53	7157	broad.mit.edu	37	chr17	7578474	7578474	+	Frame_Shift_Del	DEL	C	C	-																															gcgcggacgcgggtgccgggCgggggtgtggaatcaaccca																								rs137852790		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:7578474delC	ENST00000420246.2	-	5	588	c.456delG	c.(454-456)ccfs	p.P153fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	153	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P153fs*28(9)|p.0?(8)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152fs*14(5)|p.P153fs*16(1)|p.P151_V173del23(1)|p.G154fs*16(1)|p.P152fs*27(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.G154fs*27(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGTGCCGGGCGGGGGTGTGG	0.612		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	52	---	---	---	---					-	7578474	C	-	7578474	7	5	80	1	0	1	0	1	0	0	0	0	16476	755	27	0	842	0	TP53	17	7578474	Frame_Shift_Del	DEL	C	TCGA-CN-5360-01A-01D-1434-08	390048	7578474	73616736	449	15577											
MFSD6L	162387	broad.mit.edu	37	chr17	8702310	8702310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccacccagggcgcggcCaagcccagctgcctcaggta	7	4	13	17	2	1	0	1	0	0	0	1	0	1	0	5	3	4	2	5	3	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:8702310C>A	ENST00000329805.4	-	1	357	c.129G>T	c.(127-129)ttG>ttT	p.L43F		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	43						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AGGGCGCGGCCAAGCCCAGCT	0.652													18	40					1.67942e-08	1.9824e-08	1	0	A	8702310	C	A	8702310	3	1	80	1	0	0	0	0	1	0	0	0	9605	593	21	4	1635	4	MFSD6L	17	8702310	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1123836	8702310	72492900	450	15578											
GLP2R	9340	broad.mit.edu	37	chr17	9792733	9792733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccgcttcttgctagcccGccactcaggctgcagagcct	5	9	11	16	2	2	1	1	0	1	1	3	1	3	1	4	2	4	4	4	2	1	3	rs143908746	byFrequency	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:9792733G>T	ENST00000262441.5	+	13	1886	c.1373G>T	c.(1372-1374)cGc>cTc	p.R458L	GLP2R_ENST00000574745.1_Missense_Mutation_p.R278L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	458					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TTGCTAGCCCGCCACTCAGGC	0.562													16	31					1.37285e-15	1.89388e-15	1	0	T	9792733	G	T	9792733	3	4	80	1	0	0	0	0	1	0	0	0	6504	1087	38	3	1423	3	GLP2R	17	9792733	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1090423	9792733	71402477	451	15579											
MYH1	4619	broad.mit.edu	37	chr17	10402013	10402013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcctccactgggcaacctCactgttggccttggacattg	6	11	11	13	0	1	0	1	0	0	0	3	1	3	1	4	4	1	2	4	4	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:10402013C>T	ENST00000226207.5	-	30	4205	c.4111G>A	c.(4111-4113)Gag>Aag	p.E1371K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1371						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGGCAACCTCACTGTTGGCC	0.547													49	109					0	0	0	0	T	10402013	C	T	10402013	3	4	80	1	0	0	0	0	1	0	0	0	10099	835	29	2	1752	2	MYH1	17	10402013	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	609280	10402013	70793197	452	15580											
MYH2	4620	broad.mit.edu	37	chr17	10427956	10427956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggtcctcctggctccGgagagcatcatccaggtgga	7	9	12	13	1	2	1	2	0	0	1	6	3	6	2	4	5	1	2	4	5	0	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:10427956G>A	ENST00000245503.5	-	35	5386	c.5002C>T	c.(5002-5004)Cgg>Tgg	p.R1668W	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1668W|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1668					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTGGCTCCGGAGAGCATCA	0.572													21	50					0	0	0	0	A	10427956	G	A	10427956	3	1	80	1	0	0	0	0	1	0	0	0	10105	1115	39	1	847	1	MYH2	17	10427956	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	25943	10427956	70767254	453	15581											
MYH2	4620	broad.mit.edu	37	chr17	10429159	10429159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttcacagcttctacatgttCctcagctgcctgcagccgct	6	12	8	15	1	3	0	2	0	1	0	4	0	4	0	3	0	6	6	3	0	1	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:10429159C>T	ENST00000245503.5	-	31	4606	c.4222G>A	c.(4222-4224)Gaa>Aaa	p.E1408K	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1408K|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1408					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTACATGTTCCTCAGCTGCC	0.483													21	44					0	0	0	0	T	10429159	C	T	10429159	3	4	80	1	0	0	0	0	1	0	0	0	10105	864	30	2	1643	2	MYH2	17	10429159	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1203	10429159	70766051	454	15582											
DNAH9	1770	broad.mit.edu	37	chr17	11833273	11833273	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagagttcagggtcttcAtgagtgcagagccagcaccc	10	7	11	13	0	3	3	2	1	1	2	3	3	3	3	3	1	3	3	3	1	0	2	rs141342607		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:11833273A>T	ENST00000262442.3	+	63	12036	c.11968A>T	c.(11968-11970)Atg>Ttg	p.M3990L	DNAH9_ENST00000396001.2_Missense_Mutation_p.M302L|DNAH9_ENST00000454412.2_Intron	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3990	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGGGTCTTCATGAGTGCAGA	0.582													11	21					0	0	0	0	T	11833273	A	T	11833273	3	4	80	1	0	0	0	0	1	0	0	0	4644	217	8	5	12218	5	DNAH9	17	11833273	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	1404114	11833273	69361937	455	15583											
MYOCD	93649	broad.mit.edu	37	chr17	12649298	12649298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacgccactgagcaatacccCcttgtctcctgtcaaaaaca	13	8	5	15	1	2	1	1	1	1	0	3	1	2	1	4	0	4	1	4	0	5	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:12649298C>T	ENST00000425538.1	+	9	1234	c.1034C>T	c.(1033-1035)cCc>cTc	p.P345L	MYOCD_ENST00000395988.1_Missense_Mutation_p.P249L|MYOCD_ENST00000343344.4_Missense_Mutation_p.P345L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	345					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGCAATACCCCCTTGTCTCCT	0.423													76	146					0	0	0	0	T	12649298	C	T	12649298	3	4	80	1	0	0	0	0	1	0	0	0	10157	623	22	4	1068	4	MYOCD	17	12649298	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	816025	12649298	68545912	456	15584											
ZNF286B	729288	broad.mit.edu	37	chr17	18566461	18566461	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaagttgaatccttgcTctgtggtctagtctccacgt	7	14	9	11	1	3	2	0	2	3	0	5	2	4	2	2	1	1	2	2	1	3	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:18566461T>A	ENST00000545289.1	-	5	608	c.358A>T	c.(358-360)Agc>Tgc	p.S120C		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GAATCCTTGCTCTGTGGTCTA	0.388													27	45					0	0	0	0	A	18566461	T	A	18566461	3	1	80	1	0	0	0	0	1	0	0	0	17919	1551	54	5	1214	5	ZNF286B	17	18566461	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	5917163	18566461	62628749	457	15585											
RAB34	83871	broad.mit.edu	37	chr17	27041920	27041920	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctcggacattctcaccTgacacagagagcagataggt	13	9	9	10	1	2	3	1	1	2	2	4	5	2	4	1	2	1	1	1	2	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:27041920T>A	ENST00000395245.3	-	9	1231		c.e9-2		RAB34_ENST00000453384.3_Intron|RAB34_ENST00000301043.6_Splice_Site|RAB34_ENST00000395243.3_Splice_Site|RAB34_ENST00000436730.3_Splice_Site|RAB34_ENST00000447716.1_Splice_Site|RAB34_ENST00000415040.2_Splice_Site|RAB34_ENST00000450529.1_Splice_Site|RAB34_ENST00000395242.2_Splice_Site	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CATTCTCACCTGACACAGAGA	0.587													12	54					0	0	0	0	A	27041920	T	A	27041920	5	1	80	1	0	0	0	0	0	0	1	0	13006	1594	55	5	248	5	RAB34	17	27041920	Splice_Site	SNP	T	TCGA-CN-5360-01A-01D-1434-08	8475459	27041920	54153290	458	15586											
KRT12	3859	broad.mit.edu	37	chr17	39022952	39022952	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagtcccagttcctcgtgTttcataccattctcgaattt	7	16	6	12	2	2	0	1	0	1	0	6	1	4	0	3	0	2	3	3	0	2	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:39022952T>A	ENST00000251643.4	-	1	510	c.487A>T	c.(487-489)Aca>Tca	p.T163S		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	163	Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GTTCCTCGTGTTTCATACCAT	0.408													54	208					0	0	0	0	A	39022952	T	A	39022952	3	1	80	1	0	0	0	0	1	0	0	0	8501	1725	60	5	1029	5	KRT12	17	39022952	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	11981032	39022952	42172258	459	15587											
HAP1	9001	broad.mit.edu	37	chr17	39881020	39881020	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccgtgggggcactcacctTtctggagcatcttccacctc	5	10	9	17	1	3	0	1	0	2	0	5	1	4	1	5	3	1	2	5	3	0	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:39881020T>C	ENST00000393939.2	-	10	1727	c.1718A>G	c.(1717-1719)aAa>aGa	p.K573R	HAP1_ENST00000341193.5_Missense_Mutation_p.K581R|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.K598R|HAP1_ENST00000310778.5_Missense_Mutation_p.K650R			P54257	HAP1_HUMAN	huntingtin-associated protein 1	650	Glu-rich.			P -> L (in Ref. 3; BAB13952).	brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCACTCACCTTTCTGGAGCAT	0.602													57	188					0	0	0	0	C	39881020	T	C	39881020	3	2	80	1	0	0	0	0	1	0	0	0	7003	1841	64	5	70	5	HAP1	17	39881020	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	858068	39881020	41314190	460	15588											
LPO	4025	broad.mit.edu	37	chr17	56344747	56344747	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgtgacctctcacaGccgcagacactagaggagtt	9	9	10	13	1	2	3	1	1	2	2	3	4	2	4	3	1	1	2	3	1	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:56344747G>A	ENST00000262290.4	+	12	2047	c.1731G>A	c.(1729-1731)caG>caA	p.Q577Q	LPO_ENST00000421678.2_Silent_p.Q494Q|LPO_ENST00000582328.1_Silent_p.Q494Q|LPO_ENST00000543544.1_Silent_p.Q518Q	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	577					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						ACCTCTCACAGCCGCAGACAC	0.552													16	60					0	0	0	0	A	56344747	G	A	56344747	2	1	80	1	0	0	0	0	0	0	0	1	8986	962	34	4		4	LPO	17	56344747	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	16463727	56344747	24850463	461	15589											
BZRAP1	9256	broad.mit.edu	37	chr17	56386506	56386506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaagggacactggccaggtCttcggggctgaccactgtca	9	7	13	12	1	2	1	1	1	1	0	3	2	2	2	2	5	0	1	2	5	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:56386506C>T	ENST00000355701.3	-	22	4997	c.4127G>A	c.(4126-4128)aGa>aAa	p.R1376K	BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1376K|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1316K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1376						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGCCAGGTCTTCGGGGCTG	0.632													47	121					0	0	0	0	T	56386506	C	T	56386506	3	4	80	1	0	0	0	0	1	0	0	0	1586	913	32	2	1486	2	BZRAP1	17	56386506	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	41759	56386506	24808704	462	15590											
PRR11	55771	broad.mit.edu	37	chr17	57270975	57270975	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagctgtgcttcctccCacactgccacagccagccag	9	7	7	18	0	0	0	0	0	0	0	3	0	3	0	6	0	5	2	6	0	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:57270975C>A	ENST00000262293.4	+	5	837	c.525C>A	c.(523-525)ccC>ccA	p.P175P		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	175	Pro-rich.									breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGCTTCCTCCCACACTGCCAC	0.552													17	32					2.23348e-06	2.47484e-06	1	0	A	57270975	C	A	57270975	2	1	80	1	0	0	0	0	0	0	0	1	12663	581	21	4		4	PRR11	17	57270975	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	884469	57270975	23924235	463	15591											
MED13	9969	broad.mit.edu	37	chr17	60130054	60130054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaagtccattctcccacactCcatcttcttcttctaaaaga	12	13	2	14	0	5	1	0	0	5	1	8	1	7	1	3	0	0	0	3	0	3	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:60130054C>T	ENST00000397786.2	-	3	390	c.314G>A	c.(313-315)gGa>gAa	p.G105E		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	105					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.G105A(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTCCCACACTCCATCTTCTTC	0.338													44	181					0	0	0	0	T	60130054	C	T	60130054	3	4	80	1	0	0	0	0	1	0	0	0	9499	855	30	2	6322	2	MED13	17	60130054	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2859079	60130054	21065156	464	15592											
KCNH6	81033	broad.mit.edu	37	chr17	61623183	61623183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttctcctccctccctgaaCaccttggctctgttcccaag	5	12	6	18	0	2	1	0	1	2	0	6	1	5	1	5	1	1	3	5	1	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:61623183C>A	ENST00000583023.1	+	14	2916	c.2905C>A	c.(2905-2907)Cac>Aac	p.H969N	KCNH6_ENST00000456941.2_Missense_Mutation_p.H880N|KCNH6_ENST00000314672.5_Missense_Mutation_p.H933N|KCNH6_ENST00000581784.1_Missense_Mutation_p.H880N	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	969					regulation of transcription, DNA-dependent|signal transduction			p.H969N(2)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCTCCCTGAACACCTTGGCTC	0.567													38	130					6.99958e-10	8.67998e-10	1	0	A	61623183	C	A	61623183	3	1	80	1	0	0	0	0	1	0	0	0	8089	478	17	4	2959	4	KCNH6	17	61623183	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1493129	61623183	19572027	465	15593											
CSHL1	1444	broad.mit.edu	37	chr17	61987405	61987405	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgaggggaaatgaagaataAggtgagttctcttgggtcag	13	9	15	4	1	2	3	1	2	1	1	3	5	2	4	0	4	0	1	0	4	4	3	rs2006122	by1000genomes	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:61987405A>T	ENST00000450719.3	-	3	543	c.306T>A	c.(304-306)ccT>ccA	p.P102P	CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Silent_p.P113P|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000558099.1_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ATGAAGAATAAGGTGAGTTCT	0.547													5	132					0	0	0	0	T	61987405	A	T	61987405	2	4	80	1	0	0	0	0	0	0	0	1	3974	87	3	5		5	CSHL1	17	61987405	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08	364222	61987405	19207805	466	15594											
APOH	350	broad.mit.edu	37	chr17	64225441	64225441	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtacttactccgtccTgcaatagcaacatggcagag	15	8	8	10	1	0	1	0	0	0	1	2	1	2	1	2	1	5	4	2	1	7	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:64225441T>A	ENST00000205948.6	-	1	94	c.57A>T	c.(55-57)gcA>gcT	p.A19A		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	19					blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TACTCCGTCCTGCAATAGCAA	0.418													6	14					0	0	0	0	A	64225441	T	A	64225441	2	1	80	1	0	0	0	0	0	0	0	1	806	1567	55	5		5	APOH	17	64225441	Silent	SNP	T	TCGA-CN-5360-01A-01D-1434-08	2238036	64225441	16969769	467	15595											
MAP2K6	5608	broad.mit.edu	37	chr17	67516411	67516411	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgaaacaattggtctccagGgtgatgtgtggatctgcatg	9	12	13	7	0	2	2	0	2	2	0	3	3	2	3	1	3	2	1	1	3	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:67516411G>T	ENST00000590474.1	+	6	654	c.366_splice	c.e6-1	p.G123_splice	MAP2K6_ENST00000589647.1_Splice_Site_p.G67_splice	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	123	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TGGTCTCCAGGGTGATGTGTG	0.343													26	53					1.5548e-18	2.24401e-18	1	0	T	67516411	G	T	67516411	5	4	80	1	0	0	0	0	0	0	1	0	9310	1246	43	4	389	4	MAP2K6	17	67516411	Splice_Site	SNP	G	TCGA-CN-5360-01A-01D-1434-08	3290970	67516411	13678799	468	15596											
RHBDF2	79651	broad.mit.edu	37	chr17	74473293	74473293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccccatcgggggagacagGggaggctgagtgtgggatcc	8	5	18	10	1	0	2	0	1	0	1	2	5	1	4	3	6	0	1	3	6	0	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:74473293G>A	ENST00000591885.1	-	8	1439	c.889C>T	c.(889-891)Cct>Tct	p.P297S	RHBDF2_ENST00000389760.4_Missense_Mutation_p.P297S|RHBDF2_ENST00000313080.4_Missense_Mutation_p.P326S			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	326					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GGGGAGACAGGGGAGGCTGAG	0.632													5	11					0	0	0	0	A	74473293	G	A	74473293	3	1	80	1	0	0	0	0	1	0	0	0	13403	1232	43	4	1642	4	RHBDF2	17	74473293	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	6956882	74473293	6721917	469	15597											
ENPP7	339221	broad.mit.edu	37	chr17	77709217	77709217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaaacgggctggcgacCtggttgaattccacaagttc	10	9	12	10	2	0	1	0	1	0	0	2	3	1	2	2	4	1	3	2	4	3	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:77709217C>A	ENST00000328313.5	+	3	996	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	259					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCTGGCGACCTGGTTGAATT	0.587													16	86					1.5739e-10	1.98034e-10	1	0	A	77709217	C	A	77709217	3	1	80	1	0	0	0	0	1	0	0	0	5173	680	24	4	785	4	ENPP7	17	77709217	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	3235924	77709217	3485993	470	15598											
B3GNTL1	146712	broad.mit.edu	37	chr17	80972342	80972342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacttacgctcgacgggtgCtgaacggcagcctcgtgttg	6	10	14	11	5	0	1	0	1	0	0	2	2	0	1	1	2	5	5	1	2	3	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:80972342C>A	ENST00000320865.3	-	5	409	c.396G>T	c.(394-396)caG>caT	p.Q132H	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	132							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TCGACGGGTGCTGAACGGCAG	0.468													10	56					1.58986e-06	1.77024e-06	1	0	A	80972342	C	A	80972342	3	1	80	1	0	0	0	0	1	0	0	0	1269	796	28	4	721	4	B3GNTL1	17	80972342	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	3263125	80972342	222868	471	15599											
TMEM200C	645369	broad.mit.edu	37	chr18	5891898	5891898	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaggatcccacagagggcGatgagccctgagatggagca	12	4	14	11	1	0	3	0	2	0	2	1	7	1	5	3	3	2	1	3	3	0	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:5891898G>A	ENST00000581347.1	-	3	810	c.165C>T	c.(163-165)atC>atT	p.I55I	TMEM200C_ENST00000383490.2_Silent_p.I55I|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	55						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CACAGAGGGCGATGAGCCCTG	0.627													13	36					0	0	0	0	A	5891898	G	A	5891898	2	1	80	1	0	0	0	0	0	0	0	1	16219	1048	37	1		1	TMEM200C	18	5891898	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08		5891898	72185350	472	15600											
LAMA1	284217	broad.mit.edu	37	chr18	7079977	7079977	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgggctcacctacctgTcttaagtccagagtgattgt	7	14	10	10	0	3	2	1	1	2	1	4	2	4	2	3	1	1	2	3	1	2	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:7079977T>A	ENST00000389658.3	-	3	435	c.342A>T	c.(340-342)agA>agT	p.R114S	RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	114	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCTACCTGTCTTAAGTCCA	0.468													13	49					0	0	0	0	A	7079977	T	A	7079977	3	1	80	1	0	0	0	0	1	0	0	0	8658	1664	58	5	9129	5	LAMA1	18	7079977	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	1188079	7079977	70997271	473	15601											
MPPE1	65258	broad.mit.edu	37	chr18	11888679	11888679	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatactcacttaatgcctttCcaagaaaacagtctttcaga	15	12	4	10	0	3	2	2	0	1	2	4	2	4	2	2	0	3	0	2	0	6	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:11888679C>T	ENST00000588072.1	-	6	1779	c.558G>A	c.(556-558)tgG>tgA	p.W186*	MPPE1_ENST00000309976.9_Nonsense_Mutation_p.W186*|MPPE1_ENST00000399978.2_Nonsense_Mutation_p.W186*|MPPE1_ENST00000344987.7_Nonsense_Mutation_p.W186*|MPPE1_ENST00000317235.7_Nonsense_Mutation_p.W186*	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	186					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						TAATGCCTTTCCAAGAAAACA	0.353													9	31					0	0	0	0	T	11888679	C	T	11888679	4	4	80	1	0	0	0	0	0	1	0	0	9810	856	30	2	656	2	MPPE1	18	11888679	Nonsense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	4808702	11888679	66188569	474	15602											
POTEC	388468	broad.mit.edu	37	chr18	14537970	14537970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcttcctggcattgtaCggcctgtcagtattagacca	8	14	8	11	1	3	1	2	0	1	1	4	1	4	1	3	2	1	3	3	2	3	6	rs148283099	by1000genomes	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:14537970C>T	ENST00000358970.5	-	3	639	c.640G>A	c.(640-642)Gta>Ata	p.V214I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	214										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGGCATTGTACGGCCTGTCAG	0.358													6	159					0	0	0	0	T	14537970	C	T	14537970	3	4	80	1	0	0	0	0	1	0	0	0	12334	536	19	1	1024	1	POTEC	18	14537970	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2649291	14537970	63539278	475	15603											
SYT4	6860	broad.mit.edu	37	chr18	40857290	40857290	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgaagggaaaactgcCtggctggattcacttgcctg	8	10	14	9	0	1	1	1	1	0	0	1	3	1	3	2	4	4	2	2	4	3	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:40857290C>A	ENST00000255224.3	-	0	325				SYT4_ENST00000590752.1_De_novo_Start_InFrame|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV							cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GGAAAACTGCCTGGCTGGATT	0.552													13	58					2.27111e-07	2.58748e-07	1	0	A	40857290	C	A	40857290	1	1	80	1	0	0	0	0	0	0	0	0	15567	696	24	4		4	SYT4	18	40857290	Translation_Start_Site	SNP	C	TCGA-CN-5360-01A-01D-1434-08	26319320	40857290	37219958	476	15604											
SLC14A1	6563	broad.mit.edu	37	chr18	43329784	43329784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcccttctgtttggccacGctattgttcctcatcatgac	5	15	8	13	1	3	1	2	1	1	0	4	1	4	1	3	2	0	3	3	2	1	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:43329784G>A	ENST00000589700.1	+	7	890	c.890G>A	c.(889-891)cGc>cAc	p.R297H	SLC14A1_ENST00000586142.1_Silent_p.T346T|SLC14A1_ENST00000415427.3_Silent_p.T402T|SLC14A1_ENST00000502059.2_Silent_p.T238T|SLC14A1_ENST00000321925.4_Silent_p.T346T|SLC14A1_ENST00000402943.2_Silent_p.T241T|SLC14A1_ENST00000535474.1_Silent_p.T214T|SLC14A1_ENST00000436407.3_Silent_p.T402T|SLC14A1_ENST00000591541.1_Silent_p.T50T			Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	0						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GTTTGGCCACGCTATTGTTCC	0.478													48	132					0	0	0	0	A	43329784	G	A	43329784	3	1	80	1	0	0	0	0	1	0	0	0	14484	1074	38	1	1240	1	SLC14A1	18	43329784	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2472494	43329784	34747464	477	15605											
TXNL1	9352	broad.mit.edu	37	chr18	54293689	54293689	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaaacatggcccacacCtgttagaaaaggaaaattaa	17	8	6	10	0	1	1	1	0	0	1	2	2	2	2	3	2	1	1	3	2	7	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:54293689C>A	ENST00000217515.6	-	2	303		c.e2-1		TXNL1_ENST00000540155.1_Splice_Site|TXNL1_ENST00000590954.1_Splice_Site	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1						cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TGGCCCACACCTGTTAGAAAA	0.363													40	120					1.60099e-16	2.22647e-16	1	0	A	54293689	C	A	54293689	5	1	80	1	0	0	0	0	0	0	1	0	16900	695	24	4	799	4	TXNL1	18	54293689	Splice_Site	SNP	C	TCGA-CN-5360-01A-01D-1434-08	10963905	54293689	23783559	478	15606											
CPLX4	339302	broad.mit.edu	37	chr18	56985537	56985537	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtactcacttctcctcaAtcatttgcttttgatactcc	8	17	3	13	0	4	1	3	1	1	0	6	1	5	1	2	0	3	2	2	0	3	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:56985537A>G	ENST00000299721.3	-	1	344	c.158T>C	c.(157-159)aTt>aCt	p.I53T	CPLX4_ENST00000587244.1_Missense_Mutation_p.I53T	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	53					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CTTCTCCTCAATCATTTGCTT	0.408													56	148					0	0	0	0	G	56985537	A	G	56985537	3	3	80	1	0	0	0	0	1	0	0	0	3837	101	4	5	336	5	CPLX4	18	56985537	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	2691848	56985537	21091711	479	15607											
VPS4B	9525	broad.mit.edu	37	chr18	61066522	61066522	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtatatttgtagctccCagaaccaaaattccatcatt	13	12	6	10	0	1	1	1	0	0	1	3	1	3	1	3	1	2	3	3	1	6	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:61066522C>T	ENST00000238497.5	-	8	1028	c.825G>A	c.(823-825)ctG>ctA	p.L275L	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	275					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TTGTAGCTCCCAGAACCAAAA	0.348													43	100					0	0	0	0	T	61066522	C	T	61066522	2	4	80	1	0	0	0	0	0	0	0	1	17309	581	21	4		4	VPS4B	18	61066522	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	4080985	61066522	17010726	480	15608											
RTTN	25914	broad.mit.edu	37	chr18	67860629	67860629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcctggggaaggattctggGaatgatgagtacctcttgct	8	13	13	7	0	2	2	0	2	2	0	3	5	3	5	2	4	2	2	2	4	3	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:67860629G>A	ENST00000255674.6	-	8	1188	c.902C>T	c.(901-903)tCc>tTc	p.S301F	RTTN_ENST00000437017.1_Missense_Mutation_p.S301F|RTTN_ENST00000454359.1_Missense_Mutation_p.S301F	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	301							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGGATTCTGGGAATGATGAGT	0.488													21	69					0	0	0	0	A	67860629	G	A	67860629	3	1	80	1	0	0	0	0	1	0	0	0	13822	1174	41	2	5946	2	RTTN	18	67860629	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	6794107	67860629	10216619	481	15609											
GALR1	2587	broad.mit.edu	37	chr18	74962794	74962794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaggccaccgtgtacgCgctgcccacctgggtgctgg	4	8	13	16	3	0	0	0	0	0	0	1	0	1	0	5	3	3	3	5	3	1	2	rs140216881	byFrequency	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:74962794C>A	ENST00000299727.3	+	1	290	c.290C>A	c.(289-291)gCg>gAg	p.A97E		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	97					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		ACCGTGTACGCGCTGCCCACC	0.617													28	128					1.39806e-14	1.89815e-14	1	0	A	74962794	C	A	74962794	3	1	80	1	0	0	0	0	1	0	0	0	6276	768	27	3	292	3	GALR1	18	74962794	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	7102165	74962794	3114454	482	15610											
NCLN	56926	broad.mit.edu	37	chr19	3207205	3207205	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctccccagggacccagaGtttgtcttctacgaccagct	7	11	8	15	1	3	1	0	0	3	1	5	3	4	2	4	1	2	2	4	1	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:3207205G>A	ENST00000246117.4	+	13	1940	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E	NCLN_ENST00000590671.1_Silent_p.E429E	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	503					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGACCCAGAGTTTGTCTTCT	0.567													38	114					0	0	0	0	A	3207205	G	A	3207205	2	1	80	1	0	0	0	0	0	0	0	1	10297	1020	36	4		4	NCLN	19	3207205	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08		3207205	55921778	483	15611											
GPR108	56927	broad.mit.edu	37	chr19	6734313	6734313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctccatacttccgcaccTggaccctggggtgagggtgg	5	9	14	13	1	1	1	0	1	1	0	3	2	2	2	4	5	1	2	4	5	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:6734313T>C	ENST00000264080.7	-	5	406	c.380A>G	c.(379-381)cAg>cGg	p.Q127R	GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	127						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CTTCCGCACCTGGACCCTGGG	0.637											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	38					0	0	0	0	C	6734313	T	C	6734313	3	2	80	1	0	0	0	0	1	0	0	0	6673	1580	55	5	1307	5	GPR108	19	6734313	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	3527108	6734313	52394670	484	15612											
INSR	3643	broad.mit.edu	37	chr19	7120658	7120658	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaagaagtggtgaagaccCcatccttcagggactccggt	11	7	12	11	1	1	4	1	1	0	3	3	5	3	5	4	3	0	0	4	3	3	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:7120658C>A	ENST00000341500.5	-	19	3635	c.3596G>T	c.(3595-3597)gGg>gTg	p.G1199V	INSR_ENST00000302850.5_Missense_Mutation_p.G1211V	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1211	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGAAGACCCCATCCTTCAG	0.552													14	51					0.00244969	0.00255378	1	0	A	7120658	C	A	7120658	3	1	80	1	0	0	0	0	1	0	0	0	7826	623	22	4	528	4	INSR	19	7120658	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	386345	7120658	52008325	485	15613											
ARHGEF18	23370	broad.mit.edu	37	chr19	7529551	7529551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagtgacagtgacattcctgGgagctctgaggaatcgccgc	9	8	13	11	2	1	3	0	3	1	0	3	5	2	5	2	2	1	1	2	2	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:7529551G>A	ENST00000359920.6	+	13	2568	c.2315G>A	c.(2314-2316)gGg>gAg	p.G772E	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.G614E|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.G730R	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	772					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GACATTCCTGGGAGCTCTGAG	0.557													16	32					0	0	0	0	A	7529551	G	A	7529551	3	1	80	1	0	0	0	0	1	0	0	0	903	1232	43	4	2365	4	ARHGEF18	19	7529551	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	408893	7529551	51599432	486	15614											
MUC16	94025	broad.mit.edu	37	chr19	9085606	9085606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctgaggacagtgcctcaGataaactagtacttggccaa	12	8	11	10	0	1	2	1	1	0	1	1	3	1	3	3	3	3	1	3	3	5	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:9085606G>A	ENST00000397910.4	-	1	6412	c.6209C>T	c.(6208-6210)tCt>tTt	p.S2070F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2070	Ser-rich.|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						CAGTGCCTCAGATAAACTAGT	0.473													67	167					0	0	0	0	A	9085606	G	A	9085606	3	1	80	1	0	0	0	0	1	0	0	0	10043	942	33	2	37650	2	MUC16	19	9085606	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1556055	9085606	50043377	487	15615											
MUC16	94025	broad.mit.edu	37	chr19	9088915	9088915	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgggactagtctctggcCaagttgtgctttggggtgca	6	13	14	8	0	2	0	0	0	2	0	3	1	2	1	1	4	2	3	1	4	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:9088915C>T	ENST00000397910.4	-	1	3103	c.2900G>A	c.(2899-2901)tGg>tAg	p.W967*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	967	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						AGTCTCTGGCCAAGTTGTGCT	0.468													61	235					0	0	0	0	T	9088915	C	T	9088915	4	4	80	1	0	0	0	0	0	1	0	0	10043	595	21	4	40959	4	MUC16	19	9088915	Nonsense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	3309	9088915	50040068	488	15616											
RDH8	50700	broad.mit.edu	37	chr19	10129427	10129427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaataatgctggaatgggcCtggtggggcccctggagggg	7	8	19	7	0	0	1	0	1	0	0	0	3	0	3	3	8	1	1	3	8	3	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:10129427C>A	ENST00000591589.1	+	3	532	c.343C>A	c.(343-345)Ctg>Atg	p.L115M	RDH8_ENST00000171214.1_Missense_Mutation_p.L95M			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	95					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TGGAATGGGCCTGGTGGGGCC	0.517													42	245					6.4308e-24	9.97283e-24	1	0	A	10129427	C	A	10129427	3	1	80	1	0	0	0	0	1	0	0	0	13278	680	24	4	293	4	RDH8	19	10129427	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1040512	10129427	48999556	489	15617											
TYK2	7297	broad.mit.edu	37	chr19	10464800	10464800	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatctcctgcttccagccCgagcggtgctgggggccgca	5	8	13	15	3	2	0	1	0	1	0	4	1	3	0	4	3	4	3	4	3	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:10464800C>A	ENST00000525621.1	-	20	3307	c.2826G>T	c.(2824-2826)tcG>tcT	p.S942S	TYK2_ENST00000264818.6_Silent_p.S942S|TYK2_ENST00000524462.1_Silent_p.S757S	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	942	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTTCCAGCCCGAGCGGTGCT	0.627													34	128					1.22384e-17	1.73356e-17	1	0	A	10464800	C	A	10464800	2	1	80	1	0	0	0	0	0	0	0	1	16906	639	23	3		3	TYK2	19	10464800	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	335373	10464800	48664183	490	15618											
ZNF440	126070	broad.mit.edu	37	chr19	11942379	11942379	+	Nonsense_Mutation	SNP	G	G	T																															tgaacatcagaggtgacattGgacacaaggcatatgagtat																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:11942379G>T	ENST00000304060.5	+	4	552	c.388G>T	c.(388-390)Gga>Tga	p.G130*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGGTGACATTGGACACAAGGC	0.408													21	221					6.20995e-33	1.0182e-32	1	0	T	11942379	G	T	11942379	4	4	80	1	0	0	0	0	0	1	0	0	18008	1349	47	4	402	4	ZNF440	19	11942379	Nonsense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1477579	11942379	47186604	491	15619	137	2									
ZNF440	126070	broad.mit.edu	37	chr19	11942380	11942380	+	Missense_Mutation	SNP	G	G	C																															gaacatcagaggtgacattgGacacaaggcatatgagtatc																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:11942380G>C	ENST00000304060.5	+	4	553	c.389G>C	c.(388-390)gGa>gCa	p.G130A		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGTGACATTGGACACAAGGCA	0.403													21	216					0	0	0	0	C	11942380	G	C	11942380	3	2	80	1	0	0	0	0	1	0	0	0	18008	1174	41	2	403	2	ZNF440	19	11942380	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1	11942380	47186603	492	15620	137	2									
ZNF443	10224	broad.mit.edu	37	chr19	12542085	12542085	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctctccagtgtgagttcTttcatgtattagacaagaac	10	16	7	8	0	3	3	1	1	2	2	5	3	4	3	1	0	1	2	1	0	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:12542085T>A	ENST00000301547.5	-	4	1098	c.901A>T	c.(901-903)Aga>Tga	p.R301*	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	301					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GTGTGAGTTCTTTCATGTATT	0.408													68	220					0	0	0	0	A	12542085	T	A	12542085	4	1	80	1	0	0	0	0	0	1	0	0	18011	1617	56	5	1118	5	ZNF443	19	12542085	Nonsense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	599705	12542085	46586898	493	15621											
CYP4F8	11283	broad.mit.edu	37	chr19	15739139	15739139	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccagttgcccttcctGaccatgtgcctgaaggagag	7	9	12	13	0	0	3	0	2	0	1	1	4	1	3	5	2	2	1	5	2	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:15739139G>T	ENST00000441682.2	+	0	1204							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGCCCTTCCTGACCATGTGCC	0.617													33	120					6.05902e-23	9.31218e-23	1	0	T	15739139	G	T	15739139	1	4	80	0	1	0	0	0	0	0	0	0	4223	1277	45	2		2	CYP4F8	19	15739139	RNA	SNP	G	TCGA-CN-5360-01A-01D-1434-08	3197054	15739139	43389844	494	15622											
CPAMD8	27151	broad.mit.edu	37	chr19	17015051	17015051	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcctgagtggaggagaaGcccccaagtgcatttcgctg	8	8	13	12	2	0	2	0	1	0	1	2	4	0	3	3	2	2	2	3	2	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:17015051G>T	ENST00000443236.1	-	32	4408	c.4377C>A	c.(4375-4377)ggC>ggA	p.G1459G		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1412						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGGAGGAGAAGCCCCCAAGTG	0.652													6	18					5.9392e-07	6.69989e-07	1	0	T	17015051	G	T	17015051	2	4	80	1	0	0	0	0	0	0	0	1	3825	958	34	4		4	CPAMD8	19	17015051	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1275912	17015051	42113932	495	15623											
CPAMD8	27151	broad.mit.edu	37	chr19	17039836	17039836	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgtgtgcactggccacGggctctcccatcttgctggt	3	11	13	14	2	2	0	0	0	2	0	3	0	2	0	3	3	2	3	3	3	0	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:17039836G>A	ENST00000443236.1	-	24	3232	c.3201C>T	c.(3199-3201)ccC>ccT	p.P1067P		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1020						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CACTGGCCACGGGCTCTCCCA	0.572													12	38					0	0	0	0	A	17039836	G	A	17039836	2	1	80	1	0	0	0	0	0	0	0	1	3825	1103	39	1		1	CPAMD8	19	17039836	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	24785	17039836	42089147	496	15624											
ANKLE1	126549	broad.mit.edu	37	chr19	17394535	17394535	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgactgccactgcctgtGggagcaccagacatccattg	8	10	10	13	0	1	2	0	1	1	1	2	3	2	3	4	1	3	1	4	1	0	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:17394535G>A	ENST00000394458.3	+	5	1238	c.962G>A	c.(961-963)tGg>tAg	p.W321*	ANKLE1_ENST00000404085.1_Nonsense_Mutation_p.W343*|ANKLE1_ENST00000594072.1_Nonsense_Mutation_p.W310*|ANKLE1_ENST00000433424.2_Nonsense_Mutation_p.W375*|ANKLE1_ENST00000598347.1_Nonsense_Mutation_p.W321*	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	321						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CACTGCCTGTGGGAGCACCAG	0.612													30	123					0	0	0	0	A	17394535	G	A	17394535	4	1	80	1	0	0	0	0	0	1	0	0	632	1357	47	4	980	4	ANKLE1	19	17394535	Nonsense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	354699	17394535	41734448	497	15625											
UNC13A	23025	broad.mit.edu	37	chr19	17756536	17756536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtccgcacctcaatgatcGtctgccccaggaaatcgtca	9	8	9	15	4	3	1	2	1	1	0	6	2	4	2	4	1	1	1	4	1	2	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:17756536G>A	ENST00000428389.2	-	20	2566	c.2567C>T	c.(2566-2568)aCg>aTg	p.T856M	UNC13A_ENST00000252773.7_Missense_Mutation_p.T768M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T768M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T768M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T768M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T766M			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	768					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCAATGATCGTCTGCCCCAG	0.592													4	36					0	0	0	0	A	17756536	G	A	17756536	3	1	80	1	0	0	0	0	1	0	0	0	17080	1145	40	1	2908	1	UNC13A	19	17756536	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	362001	17756536	41372447	498	15626											
JAK3	3718	broad.mit.edu	37	chr19	17949121	17949121	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgtcatctgactcagcTggtattgggattggggctga	9	12	14	6	0	3	2	2	2	1	0	3	4	3	3	0	4	1	3	0	4	2	3	rs140690573		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:17949121T>A	ENST00000458235.1	-	11	1619	c.1520A>T	c.(1519-1521)cAg>cTg	p.Q507L	JAK3_ENST00000527670.1_Missense_Mutation_p.Q507L|JAK3_ENST00000534444.1_Missense_Mutation_p.Q507L|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	507					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.Q507R(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CTGACTCAGCTGGTATTGGGA	0.547		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								94	205					0	0	0	0	A	17949121	T	A	17949121	3	1	80	1	0	0	0	0	1	0	0	0	7992	1580	55	5	1910	5	JAK3	19	17949121	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	192585	17949121	41179862	499	15627											
SLC5A5	6528	broad.mit.edu	37	chr19	17994720	17994720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtggccttgggcgccaCgctgtacccacccagcgagc	5	6	15	15	3	0	0	0	0	0	0	0	1	0	0	4	3	3	2	4	3	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:17994720C>T	ENST00000222248.3	+	12	1738	c.1391C>T	c.(1390-1392)aCg>aTg	p.T464M		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	464					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTGGGCGCCACGCTGTACCCA	0.721													5	2					0	0	0	0	T	17994720	C	T	17994720	3	4	80	1	0	0	0	0	1	0	0	0	14756	536	19	1	1437	1	SLC5A5	19	17994720	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	45599	17994720	41134263	500	15628											
IL12RB1	3594	broad.mit.edu	37	chr19	18182953	18182953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcaggaatgtgccacgtCtggttcaggccaggaccaaa	10	7	13	11	2	2	0	1	0	1	0	3	2	2	2	3	5	1	2	3	5	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:18182953C>A	ENST00000600835.1	-	10	1293	c.990G>T	c.(988-990)caG>caT	p.Q330H	IL12RB1_ENST00000322153.6_Missense_Mutation_p.Q330H|IL12RB1_ENST00000593993.1_Missense_Mutation_p.Q330H|IL12RB1_ENST00000430026.2_Missense_Mutation_p.Q330H			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	330	Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TGTGCCACGTCTGGTTCAGGC	0.622													6	32					0.00116845	0.00122366	1	0	A	18182953	C	A	18182953	3	1	80	1	0	0	0	0	1	0	0	0	7679	912	32	2	1163	2	IL12RB1	19	18182953	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	188233	18182953	40946030	501	15629											
ZNF208	7757	broad.mit.edu	37	chr19	22155424	22155424	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcttcacatttgtaGggtttctcatcagtatgaat	10	16	6	9	0	4	1	3	1	2	0	5	1	4	1	1	1	0	3	1	1	3	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:22155424G>T	ENST00000397126.4	-	4	2560	c.2412C>A	c.(2410-2412)ccC>ccA	p.P804P	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTTGTAGGGTTTCTCAT	0.363													29	89					9.80776e-20	1.45528e-19	1	0	T	22155424	G	T	22155424	2	4	80	1	0	0	0	0	0	0	0	1	17861	987	35	4		4	ZNF208	19	22155424	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	3972471	22155424	36973559	502	15630											
ZNF676	163223	broad.mit.edu	37	chr19	22363057	22363057	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttagtaaggattgagaacgTactaaagcctttgccacatt	13	13	8	7	1	0	1	0	1	0	1	0	3	0	2	2	1	4	2	2	1	6	8			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:22363057T>C	ENST00000397121.2	-	3	1779	c.1462A>G	c.(1462-1464)Acg>Gcg	p.T488A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATTGAGAACGTACTAAAGCCT	0.413													39	128					0	0	0	0	C	22363057	T	C	22363057	3	2	80	1	0	0	0	0	1	0	0	0	18178	1638	57	5	308	5	ZNF676	19	22363057	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	207633	22363057	36765926	503	15631											
ZNF676	163223	broad.mit.edu	37	chr19	22363257	22363257	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccacattcttcacacttgTagggtttctctccagtatga	8	15	7	11	0	3	1	1	1	2	0	5	1	4	1	2	1	1	3	2	1	2	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:22363257T>G	ENST00000397121.2	-	3	1579	c.1262A>C	c.(1261-1263)tAc>tCc	p.Y421S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCACACTTGTAGGGTTTCTC	0.433													41	141					0	0	0	0	G	22363257	T	G	22363257	3	3	80	1	0	0	0	0	1	0	0	0	18178	1638	57	5	508	5	ZNF676	19	22363257	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	200	22363257	36765726	504	15632											
DPY19L3	147991	broad.mit.edu	37	chr19	32899172	32899172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacatcatgatgtccatcCggcaaagaagagaaataaga	17	7	9	8	1	1	5	1	2	0	3	3	6	3	5	2	1	0	1	2	1	4	1	rs143875213		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:32899172C>T	ENST00000342179.5	+	2	228	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	DPY19L3_ENST00000392250.2_Missense_Mutation_p.R5W|DPY19L3_ENST00000587077.1_Missense_Mutation_p.R5W|DPY19L3_ENST00000586987.1_Missense_Mutation_p.R5W	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	5						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GATGTCCATCCGGCAAAGAAG	0.423													15	56					0	0	0	0	T	32899172	C	T	32899172	3	4	80	1	0	0	0	0	1	0	0	0	4778	643	23	1	15	1	DPY19L3	19	32899172	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	10535915	32899172	26229811	505	15633											
ZNF382	84911	broad.mit.edu	37	chr19	37118348	37118348	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagaaaactcacacaggcGagaaaccatatgaatgtaaa	20	6	7	8	1	2	3	2	1	0	2	2	4	2	3	1	1	2	1	1	1	7	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:37118348G>T	ENST00000435416.1	+	3	3041	c.1546G>T	c.(1546-1548)Gag>Tag	p.E516*	ZNF382_ENST00000423582.1_Nonsense_Mutation_p.E468*|ZNF382_ENST00000439428.1_Nonsense_Mutation_p.E516*|ZNF382_ENST00000292928.2_Nonsense_Mutation_p.E517*			Q96SR6	ZN382_HUMAN	zinc finger protein 382	517	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCACACAGGCGAGAAACCATA	0.423													19	52					1.01871e-10	1.28414e-10	1	0	T	37118348	G	T	37118348	4	4	80	1	0	0	0	0	0	1	0	0	17968	1059	37	3	1559	3	ZNF382	19	37118348	Nonsense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	4219176	37118348	22010635	506	15634											
LRFN1	57622	broad.mit.edu	37	chr19	39798856	39798856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagcacacgtggctgaccCgcgggagcgacctggagccc	7	3	16	15	5	0	1	0	1	0	0	0	5	0	3	3	3	3	2	3	3	0	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:39798856C>A	ENST00000248668.4	-	2	1732	c.1733G>T	c.(1732-1734)cGg>cTg	p.R578L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	578						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTGGCTGACCCGCGGGAGCGA	0.697													6	18					0.00116845	0.00122366	1	0	A	39798856	C	A	39798856	3	1	80	1	0	0	0	0	1	0	0	0	9001	652	23	3	586	3	LRFN1	19	39798856	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	2680508	39798856	19330127	507	15635											
TIMM50	92609	broad.mit.edu	37	chr19	39972552	39972552	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcgggagccgcgggagcacTaaggcgcaagggccacagca	11	2	16	12	4	0	0	0	0	0	0	1	2	0	2	2	4	3	3	2	4	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:39972552T>C	ENST00000314349.4	+	2	580	c.447T>C	c.(445-447)acT>acC	p.T149T	TIMM50_ENST00000607714.1_Silent_p.T46T|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000544017.1_5'UTR	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	46	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCGGGAGCACTAAGGCGCAAG	0.632													25	123					0	0	0	0	C	39972552	T	C	39972552	2	2	80	1	0	0	0	0	0	0	0	1	16007	1509	53	5		5	TIMM50	19	39972552	Silent	SNP	T	TCGA-CN-5360-01A-01D-1434-08	173696	39972552	19156431	508	15636											
CEACAM5	1048	broad.mit.edu	37	chr19	42213713	42213713	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtccacaatctgccccAgcatctttttggctacagct	8	13	6	14	0	2	0	0	0	2	0	3	0	3	0	3	1	4	3	3	1	2	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:42213713A>T	ENST00000221992.6	+	2	293	c.179A>T	c.(178-180)cAg>cTg	p.Q60L	CEACAM5_ENST00000405816.1_Missense_Mutation_p.Q60L|CEACAM5_ENST00000398599.4_Missense_Mutation_p.Q60L|CEA_ENST00000598976.1_Missense_Mutation_p.Q60L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	60	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AATCTGCCCCAGCATCTTTTT	0.507													53	142					0	0	0	0	T	42213713	A	T	42213713	3	4	80	1	0	0	0	0	1	0	0	0	3224	188	7	5	185	5	CEACAM5	19	42213713	Missense_Mutation	SNP	A	TCGA-CN-5360-01A-01D-1434-08	2241161	42213713	16915270	509	15637											
PSG7	5676	broad.mit.edu	37	chr19	43430641	43430641	+	RNA	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgccaccatatcggtcccGtatttcacattgatagggtc	9	12	9	11	2	1	1	1	1	0	0	4	2	2	1	3	2	1	1	3	2	3	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:43430641G>C	ENST00000446844.3	-	0	1026				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TATCGGTCCCGTATTTCACAT	0.522													6	242					0	0	0	0	C	43430641	G	C	43430641	1	2	80	0	1	0	0	0	0	0	0	0	12739	1144	40	3		3	PSG7	19	43430641	RNA	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1216928	43430641	15698342	510	15638											
CABP5	56344	broad.mit.edu	37	chr19	48543892	48543892	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgctggccgagctcaaTcagttccatctccgtgggca	7	11	11	12	2	3	0	2	0	1	0	5	2	4	0	3	2	2	4	3	2	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:48543892T>C	ENST00000293255.2	-	3	338	c.208A>G	c.(208-210)Att>Gtt	p.I70V		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	70	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		CCGAGCTCAATCAGTTCCATC	0.527													18	91					0	0	0	0	C	48543892	T	C	48543892	3	2	80	1	0	0	0	0	1	0	0	0	2559	1435	50	5	329	5	CABP5	19	48543892	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	5113251	48543892	10585091	511	15639											
NOSIP	51070	broad.mit.edu	37	chr19	50063282	50063282	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgaatgttctgggtccCatagcccgaggccgctgggg	6	8	15	12	3	1	0	0	0	1	0	3	2	2	0	3	4	1	2	3	4	2	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:50063282C>A	ENST00000391853.3	-	4	236	c.85G>T	c.(85-87)Ggg>Tgg	p.G29W	NOSIP_ENST00000596358.1_Missense_Mutation_p.G29W|NOSIP_ENST00000339093.3_Missense_Mutation_p.G29W	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	29					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TTCTGGGTCCCATAGCCCGAG	0.607													8	26					0.000442599	0.000469963	1	0	A	50063282	C	A	50063282	3	1	80	1	0	0	0	0	1	0	0	0	10615	594	21	4	848	4	NOSIP	19	50063282	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1519390	50063282	9065701	512	15640											
SIGLEC10	89790	broad.mit.edu	37	chr19	51919978	51919978	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttctggagaagtccacAtggcaggtgaggtcggtgtt	7	11	14	9	1	1	2	0	1	1	1	3	3	2	2	2	5	0	2	2	5	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:51919978A>G	ENST00000353836.5	-	3	869	c.648T>C	c.(646-648)caT>caC	p.H216H	CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000339313.5_Silent_p.H216H|SIGLEC10_ENST00000436984.2_Silent_p.H168H|SIGLEC10_ENST00000356298.5_Silent_p.H216H|SIGLEC10_ENST00000439889.2_Silent_p.H158H|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000442846.3_Silent_p.H158H|SIGLEC10_ENST00000525998.1_Silent_p.H216H|SIGLEC10_ENST00000441969.3_Silent_p.H158H	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	216	Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGAAGTCCACATGGCAGGTGA	0.632													12	41					0	0	0	0	G	51919978	A	G	51919978	2	3	80	1	0	0	0	0	0	0	0	1	14394	214	8	5		5	SIGLEC10	19	51919978	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08	1856696	51919978	7209005	513	15641											
CEACAM18	729767	broad.mit.edu	37	chr19	51986470	51986470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcttgcctgggagcagatGggccgttaccgatgcactgt	7	10	14	10	2	1	1	0	0	1	1	1	3	1	2	3	2	4	3	3	2	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:51986470G>A	ENST00000396477.4	+	4	894	c.873G>A	c.(871-873)atG>atA	p.M291I	CEACAM18_ENST00000451626.1_Missense_Mutation_p.M352I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	352	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGGAGCAGATGGGCCGTTACC	0.557													35	93					0	0	0	0	A	51986470	G	A	51986470	3	1	80	1	0	0	0	0	1	0	0	0	3218	1348	47	4	1074	4	CEACAM18	19	51986470	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	66492	51986470	7142513	514	15642											
ZNF610	162963	broad.mit.edu	37	chr19	52869373	52869373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagtcgcaattcacaccttGtagaacattggagaattcat	13	12	7	9	1	3	2	3	0	0	2	4	3	3	2	1	1	1	2	1	1	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:52869373G>T	ENST00000601151.1	+	5	1065	c.613G>T	c.(613-615)Gta>Tta	p.V205L	ZNF610_ENST00000403906.3_Missense_Mutation_p.V248L|ZNF610_ENST00000327920.8_Missense_Mutation_p.V248L|ZNF610_ENST00000321287.8_Missense_Mutation_p.V248L	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TTCACACCTTGTAGAACATTG	0.403													24	56					9.57634e-11	1.21159e-10	1	0	T	52869373	G	T	52869373	3	4	80	1	0	0	0	0	1	0	0	0	18131	1377	48	4	756	4	ZNF610	19	52869373	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	882903	52869373	6259610	515	15643											
ZNF677	342926	broad.mit.edu	37	chr19	53740380	53740380	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttcaatgtgtattttctGgtgtctagtgaggtttgcaa	7	19	10	5	0	3	1	1	1	2	0	3	1	3	1	0	2	1	3	0	2	4	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:53740380G>A	ENST00000333952.4	-	5	1765	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	ZNF677_ENST00000598513.1_Nonsense_Mutation_p.Q534*			Q86XU0	ZN677_HUMAN	zinc finger protein 677	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGTATTTTCTGGTGTCTAGTG	0.318													23	87					0	0	0	0	A	53740380	G	A	53740380	4	1	80	1	0	0	0	0	0	1	0	0	18179	1357	47	4	158	4	ZNF677	19	53740380	Nonsense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	871007	53740380	5388603	516	15644											
PRKCG	5582	broad.mit.edu	37	chr19	54403966	54403966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccccgggacgacaacccGcaccttctgcgggaccccgg	6	5	11	19	5	1	0	0	0	1	0	2	3	2	2	6	3	2	1	6	3	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:54403966G>T	ENST00000263431.3	+	14	1820	c.1538G>T	c.(1537-1539)cGc>cTc	p.R513L	PRKCG_ENST00000540413.1_Missense_Mutation_p.R513L|PRKCG_ENST00000542049.1_Missense_Mutation_p.R400L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	513	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACGACAACCCGCACCTTCTGC	0.567													83	414					6.07207e-39	1.01005e-38	1	0	T	54403966	G	T	54403966	3	4	80	1	0	0	0	0	1	0	0	0	12592	1087	38	3	1592	3	PRKCG	19	54403966	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	663586	54403966	4725017	517	15645											
CACNG6	59285	broad.mit.edu	37	chr19	54502939	54502939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgggcctggcagtcatggCcttggggtgcctctgtatca	4	11	15	11	0	3	0	2	0	1	0	3	0	3	0	3	5	1	3	3	5	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:54502939C>T	ENST00000252729.2	+	3	1048	c.458C>T	c.(457-459)gCc>gTc	p.A153V	CACNG6_ENST00000346968.2_Intron|CACNG6_ENST00000352529.1_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	153						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GCAGTCATGGCCTTGGGGTGC	0.562													118	347					0	0	0	0	T	54502939	C	T	54502939	3	4	80	1	0	0	0	0	1	0	0	0	2586	739	26	4	468	4	CACNG6	19	54502939	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	98973	54502939	4626044	518	15646											
SBK2	646643	broad.mit.edu	37	chr19	56042591	56042591	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtgccgactcgatgccAatgccgtaggccgtcacgat	8	8	13	12	5	1	0	1	0	0	0	2	4	1	0	4	1	3	1	4	1	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:56042591A>G	ENST00000413299.1	-	3	412	c.375T>C	c.(373-375)atT>atC	p.I125I	SBK2_ENST00000344158.3_Silent_p.I125I	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	125	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						ACTCGATGCCAATGCCGTAGG	0.652													10	33					0	0	0	0	G	56042591	A	G	56042591	2	3	80	1	0	0	0	0	0	0	0	1	13947	126	5	5		5	SBK2	19	56042591	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08	1539652	56042591	3086392	519	15647											
PEG3	5178	broad.mit.edu	37	chr19	57325540	57325540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcctctccatctggccCttcagcctctccgtttggct	3	13	8	17	1	4	0	1	0	3	0	6	0	4	0	5	2	3	3	5	2	0	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:57325540C>G	ENST00000326441.9	-	10	4633	c.4270G>C	c.(4270-4272)Ggg>Cgg	p.G1424R	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1300R|PEG3_ENST00000423103.2_Missense_Mutation_p.G1424R|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G1298R	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1424	4 X 5 AA repeat of P-X-G-E-A.|Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCATCTGGCCCTTCAGCCTCT	0.607													18	72					0	0	0	0	G	57325540	C	G	57325540	3	3	80	1	0	0	0	0	1	0	0	0	11791	681	24	4	500	4	PEG3	19	57325540	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1282949	57325540	1803443	520	15648											
USP29	57663	broad.mit.edu	37	chr19	57641829	57641829	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccctggttctacccgttGaaccagacaagaatgccgac	11	9	8	13	2	1	3	0	1	1	2	2	4	2	3	4	1	3	2	4	1	4	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:57641829G>T	ENST00000254181.4	+	4	2240	c.1786G>T	c.(1786-1788)Gaa>Taa	p.E596*	USP29_ENST00000598197.1_Nonsense_Mutation_p.E596*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	596					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTACCCGTTGAACCAGACAA	0.488													19	48					5.3912e-06	5.92601e-06	1	0	T	57641829	G	T	57641829	4	4	80	1	0	0	0	0	0	1	0	0	17155	1291	45	2	1788	2	USP29	19	57641829	Nonsense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	316289	57641829	1487154	521	15649											
DUXA	503835	broad.mit.edu	37	chr19	57666725	57666725	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagtaatctagatcttcGattttggaaccaaatctaag	15	12	8	6	1	3	2	0	0	3	2	4	5	3	3	1	1	1	1	1	1	6	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:57666725G>T	ENST00000554048.2	-	5	453	c.454C>A	c.(454-456)Cga>Aga	p.R152R		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CTAGATCTTCGATTTTGGAAC	0.383													20	47					1.56452e-12	2.0512e-12	1	0	T	57666725	G	T	57666725	2	4	80	1	0	0	0	0	0	0	0	1	4870	1066	37	3		3	DUXA	19	57666725	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	24896	57666725	1462258	522	15650											
ZNF460	10794	broad.mit.edu	37	chr19	57802666	57802666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatggagataagccctttGtgtgcagtgaatgtggaagg	12	10	14	5	0	0	2	0	1	0	1	0	4	0	3	1	3	2	1	1	3	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:57802666G>A	ENST00000360338.3	+	3	1079	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	ZNF460_ENST00000537645.1_Missense_Mutation_p.V212M	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAGCCCTTTGTGTGCAGTGA	0.542													30	84					0	0	0	0	A	57802666	G	A	57802666	3	1	80	1	0	0	0	0	1	0	0	0	18019	1377	48	4	767	4	ZNF460	19	57802666	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	135941	57802666	1326317	523	15651											
A1BG	1	broad.mit.edu	37	chr19	58862906	58862906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgggctggtgctgctcCtgggtaccagcagctctttc	4	12	13	12	0	2	0	0	0	2	0	4	1	3	0	2	3	5	6	2	3	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:58862906C>T	ENST00000263100.3	-	5	822	c.761G>A	c.(760-762)aGg>aAg	p.R254K	A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	254	Ig-like V-type 3.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GGTGCTGCTCCTGGGTACCAG	0.627													11	50					0	0	0	0	T	58862906	C	T	58862906	3	4	80	1	0	0	0	0	1	0	0	0	1	681	24	4	742	4	A1BG	19	58862906	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1060240	58862906	266077	524	15652											
SNPH	9751	broad.mit.edu	37	chr20	1286353	1286353	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggccccagagcccatcacCcgtggacccaccccacagcg	9	2	10	20	2	1	1	1	0	0	1	1	3	1	2	7	2	2	0	7	2	0	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr20:1286353C>A	ENST00000381867.1	+	7	1914	c.1272C>A	c.(1270-1272)acC>acA	p.T424T	SNPH_ENST00000381873.3_Silent_p.T380T			O15079	SNPH_HUMAN	syntaphilin	380					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCCCATCACCCGTGGACCCA	0.672													13	52					0.00136819	0.00143067	1	0	A	1286353	C	A	1286353	2	1	80	1	0	0	0	0	0	0	0	1	14938	610	22	4		4	SNPH	20	1286353	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08		1286353	61739167	525	15653											
STK35	140901	broad.mit.edu	37	chr20	2097588	2097588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actaagcaaggtctgtgctgGgctggcaccccgaggcaaag	10	6	14	11	1	1	0	0	0	1	0	1	1	1	0	2	4	2	5	2	4	3	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr20:2097588G>T	ENST00000381482.3	+	3	1440	c.1169G>T	c.(1168-1170)gGg>gTg	p.G390V	STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Missense_Mutation_p.G257V			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	390	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						GTCTGTGCTGGGCTGGCACCC	0.542													13	78					2.32078e-09	2.81692e-09	1	0	T	2097588	G	T	2097588	3	4	80	1	0	0	0	0	1	0	0	0	15391	1232	43	4	1179	4	STK35	20	2097588	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	811235	2097588	60927932	526	15654											
SEL1L2	80343	broad.mit.edu	37	chr20	13868594	13868594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtttacaaaccaaaatCatctgggacatcatgtttcc	12	15	5	9	0	3	0	2	0	1	0	4	1	4	1	2	1	2	2	2	1	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr20:13868594C>A	ENST00000284951.5	-	7	731	c.657G>T	c.(655-657)atG>atT	p.M219I	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.M219I			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	219						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AAACCAAAATCATCTGGGACA	0.368													17	119					2.94398e-08	3.45729e-08	1	0	A	13868594	C	A	13868594	3	1	80	1	0	0	0	0	1	0	0	0	14098	826	29	2	1465	2	SEL1L2	20	13868594	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	11771006	13868594	49156926	527	15655											
GZF1	64412	broad.mit.edu	37	chr20	23346248	23346248	+	Frame_Shift_Del	DEL	G	G	-																															gcggcgagcggcaccgctgcGgccagtgcggcaagggcctg																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr20:23346248delG	ENST00000338121.5	+	2	1305	c.1228delG	c.(1228-1230)gcfs	p.G410fs	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Frame_Shift_Del_p.G410fs|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	410					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCACCGCTGCGGCCAGTGCGG	0.682													27	78	---	---	---	---					-	23346248	G	-	23346248	7	5	80	1	0	1	0	1	0	0	0	0	6964	1116	39	0	1230	0	GZF1	20	23346248	Frame_Shift_Del	DEL	G	TCGA-CN-5360-01A-01D-1434-08	9477654	23346248	39679272	528	15656											
VSX1	30813	broad.mit.edu	37	chr20	25060074	25060074	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcctggccctatacctGtgccgccgcttcttcctctt	3	13	8	17	2	2	0	0	0	2	0	3	1	3	0	6	1	3	1	6	1	2	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr20:25060074G>A	ENST00000376709.4	-	2	764	c.501C>T	c.(499-501)caC>caT	p.H167H	VSX1_ENST00000424574.1_Silent_p.H167H|VSX1_ENST00000444511.2_Silent_p.H167H|VSX1_ENST00000376707.3_Silent_p.H167H|VSX1_ENST00000451258.1_Silent_p.H167H|VSX1_ENST00000429762.3_Silent_p.H167H	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	167					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						CCCTATACCTGTGCCGCCGCT	0.557													13	29					0	0	0	0	A	25060074	G	A	25060074	2	1	80	1	0	0	0	0	0	0	0	1	17327	1368	48	4		4	VSX1	20	25060074	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1713826	25060074	37965446	529	15657											
DLGAP4	22839	broad.mit.edu	37	chr20	35154397	35154397	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagctggtggagaccccCgagaagaggaaggtgagcat	11	5	17	8	1	0	4	0	1	0	3	0	7	0	5	2	5	2	3	2	5	2	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr20:35154397C>A	ENST00000373913.3	+	12	3219	c.2739C>A	c.(2737-2739)ccC>ccA	p.P913P	RP5-977B1.12_ENST00000433238.1_RNA|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000401952.2_Silent_p.P913P|DLGAP4_ENST00000373907.2_Silent_p.P916P|DLGAP4_ENST00000340491.4_Silent_p.P377P|DLGAP4_ENST00000339266.5_Silent_p.P916P			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	916					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGGAGACCCCCGAGAAGAGGA	0.572													27	85					3.57733e-08	4.17963e-08	1	0	A	35154397	C	A	35154397	2	1	80	1	0	0	0	0	0	0	0	1	4599	639	23	3		3	DLGAP4	20	35154397	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	10094323	35154397	27871123	530	15658											
RBPJL	11317	broad.mit.edu	37	chr20	43942234	43942234	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacagtgggctgccttcaCgctccacctgggtaatgaca	9	8	11	13	2	1	1	1	1	0	0	2	2	2	1	3	2	1	3	3	2	1	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr20:43942234C>A	ENST00000343694.3	+	7	818	c.746C>A	c.(745-747)aCg>aAg	p.T249K	RBPJL_ENST00000372743.1_Missense_Mutation_p.T249K|RBPJL_ENST00000372741.3_Missense_Mutation_p.T249K	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	249					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCTGCCTTCACGCTCCACCTG	0.562													11	19					2.80697e-09	3.38314e-09	1	0	A	43942234	C	A	43942234	3	1	80	1	0	0	0	0	1	0	0	0	13244	536	19	3	772	3	RBPJL	20	43942234	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	8787837	43942234	19083286	531	15659											
COL6A2	1292	broad.mit.edu	37	chr21	47549387	47549387	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtgggggaccccgagacCgcgctggccctctgctaaag	7	6	14	14	4	1	1	0	0	1	1	2	3	1	2	4	3	1	2	4	3	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr21:47549387C>A	ENST00000357838.4	+	28	2821	c.2739C>A	c.(2737-2739)acC>acA	p.T913T	COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Silent_p.T913T|COL6A2_ENST00000409416.1_3'UTR	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACCCCGAGACCGCGCTGGCCC	0.682													4	12					0.150653	0.152204	1	0	A	47549387	C	A	47549387	2	1	80	1	0	0	0	0	0	0	0	1	3730	639	23	3		3	COL6A2	21	47549387	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08		47549387	580508	532	15660											
POTEH	23784	broad.mit.edu	37	chr22	16287846	16287846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccaaatggcttcttcaCagaggaggcagccggcattg	11	7	13	10	1	2	2	1	0	1	2	2	4	2	3	2	4	1	3	2	4	1	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:16287846C>T	ENST00000343518.6	-	1	91	c.40G>A	c.(40-42)Gtg>Atg	p.V14M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	14										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GGCTTCTTCACAGAGGAGGCA	0.587													34	70					0	0	0	0	T	16287846	C	T	16287846	3	4	80	1	0	0	0	0	1	0	0	0	12339	478	17	4	1637	4	POTEH	22	16287846	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08		16287846	35016720	533	15661											
C22orf29	79680	broad.mit.edu	37	chr22	19839663	19839663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caatccagggatccacaaggGgggtgtatgccaccccagga	11	5	13	12	0	0	0	0	0	0	0	2	2	2	2	5	5	1	1	5	5	3	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:19839663G>A	ENST00000405640.1	-	2	790	c.122C>T	c.(121-123)cCc>cTc	p.P41L	GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.P41L|C22orf29_ENST00000328554.4_Missense_Mutation_p.P41L			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	41										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					ATCCACAAGGGGGGTGTATGC	0.617													48	125					0	0	0	0	A	19839663	G	A	19839663	3	1	80	1	0	0	0	0	1	0	0	0	2161	1232	43	4	976	4	C22orf29	22	19839663	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	3551817	19839663	31464903	534	15662											
MYO18B	84700	broad.mit.edu	37	chr22	26159210	26159210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaaacagattcgggaagagGacaagagccctccaccatcc	15	4	9	13	1	0	3	0	0	0	3	3	5	2	5	4	2	2	0	4	2	4	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:26159210G>A	ENST00000335473.7	+	3	302	c.52G>A	c.(52-54)Gac>Aac	p.D18N	MYO18B_ENST00000407587.2_Missense_Mutation_p.D18N|MYO18B_ENST00000536101.1_Missense_Mutation_p.D18N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	18						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCGGGAAGAGGACAAGAGCCC	0.542													8	34					0	0	0	0	A	26159210	G	A	26159210	3	1	80	1	0	0	0	0	1	0	0	0	10136	1174	41	2	58	2	MYO18B	22	26159210	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	6319547	26159210	25145356	535	15663											
TBC1D10A	83874	broad.mit.edu	37	chr22	30700639	30700639	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgtggagcagagggcaggGcctgtgagaggtgccaaggg	8	5	20	8	0	0	2	0	1	0	2	0	4	0	3	3	5	2	2	3	5	1	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:30700639G>C	ENST00000403477.3	-	2	230	c.209_splice	c.e2-1	p.P71_splice	TBC1D10A_ENST00000215790.7_Intron|TBC1D10A_ENST00000403362.1_Intron|TBC1D10A_ENST00000490449.1_Intron	NM_001204240.1	NP_001191169.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	70						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGAGGGCAGGGCCTGTGAGAG	0.602													8	24					0	0	0	0	C	30700639	G	C	30700639	5	2	80	1	0	0	0	0	0	0	1	0	15689	1218	42	4		4	TBC1D10A	22	30700639	Splice_Site	SNP	G	TCGA-CN-5360-01A-01D-1434-08	4541429	30700639	20603927	536	15664											
NCF4	4689	broad.mit.edu	37	chr22	37273817	37273817	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcttcccctggaagctGcacatcacgcagaaggacaa	11	6	9	15	2	2	1	1	0	1	1	3	3	3	3	3	2	2	3	3	2	3	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:37273817G>C	ENST00000248899.6	+	10	1156	c.972G>C	c.(970-972)ctG>ctC	p.L324L	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	324					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CCTGGAAGCTGCACATCACGC	0.607													7	17					0	0	0	0	C	37273817	G	C	37273817	2	2	80	1	0	0	0	0	0	0	0	1	10288	1306	46	4		4	NCF4	22	37273817	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	6573178	37273817	14030749	537	15665											
ENTHD1	150350	broad.mit.edu	37	chr22	40283742	40283742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtttttcacttgtctcCtgaacgccataagtaataca	13	13	5	10	1	2	1	1	1	1	0	3	1	2	1	2	0	2	2	2	0	5	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:40283742C>T	ENST00000325157.6	-	2	261	c.11G>A	c.(10-12)aGg>aAg	p.R4K		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	4								p.R4K(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CACTTGTCTCCTGAACGCCAT	0.393													19	62					0	0	0	0	T	40283742	C	T	40283742	3	4	80	1	0	0	0	0	1	0	0	0	5175	681	24	4	1836	4	ENTHD1	22	40283742	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	3009925	40283742	11020824	538	15666											
PKDREJ	10343	broad.mit.edu	37	chr22	46656831	46656831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttgttcagatcgaaagcGtttatctttttgctgatact	9	19	7	6	2	2	2	1	1	1	1	3	3	2	2	0	0	3	3	0	0	4	8	rs140368137	byFrequency	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:46656831G>T	ENST00000253255.5	-	1	2388	c.2389C>A	c.(2389-2391)Cgc>Agc	p.R797S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	797	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GATCGAAAGCGTTTATCTTTT	0.398													32	112					1.08312e-15	1.49719e-15	1	0	T	46656831	G	T	46656831	3	4	80	1	0	0	0	0	1	0	0	0	12042	1145	40	3	4376	3	PKDREJ	22	46656831	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	6373089	46656831	4647735	539	15667											
SCO2	9997	broad.mit.edu	37	chr22	50962505	50962505	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtcagccttgcagcgagcCcggcctctgtgatccagcag	8	7	12	14	2	2	1	1	1	1	0	3	2	3	1	4	1	5	2	4	1	1	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:50962505C>G	ENST00000543927.1	-	2	542	c.336G>C	c.(334-336)cgG>cgC	p.R112R	SCO2_ENST00000395693.3_Silent_p.R112R|SCO2_ENST00000252785.3_Silent_p.R112R|SCO2_ENST00000535425.1_Silent_p.R112R	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	112	Thioredoxin.				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCAGCGAGCCCGGCCTCTGT	0.632													10	38					0	0	0	0	G	50962505	C	G	50962505	2	3	80	1	0	0	0	0	0	0	0	1	14019	610	22	4		4	SCO2	22	50962505	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	4305674	50962505	342061	540	15668											
CPT1B	1375	broad.mit.edu	37	chr22	51009711	51009711	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcataggtcaggcagaacTtacccctgtcctgggatata	10	10	9	12	0	2	1	2	0	0	1	3	2	3	2	4	3	2	1	4	3	5	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:51009711T>G	ENST00000360719.2	-	15	1888	c.1751A>C	c.(1750-1752)aAg>aCg	p.K584T	CPT1B_ENST00000405237.3_Missense_Mutation_p.K584T|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.K503T|CPT1B_ENST00000434492.2_Missense_Mutation_p.K379T|CPT1B_ENST00000457250.1_Missense_Mutation_p.K550T|CPT1B_ENST00000312108.7_Missense_Mutation_p.K584T|CPT1B_ENST00000395650.2_Missense_Mutation_p.K584T	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	584					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CAGGCAGAACTTACCCCTGTC	0.602													10	41					0	0	0	0	G	51009711	T	G	51009711	3	3	80	1	0	0	0	0	1	0	0	0	3862	1609	56	5	587	5	CPT1B	22	51009711	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	47206	51009711	294855	541	15669											
PIGA	5277	broad.mit.edu	37	chrX	15349561	15349561	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcttgtttgtaagcacCgagctgacatcagcaaatcc	13	9	9	10	1	1	2	1	1	0	1	2	3	2	2	2	0	4	6	2	0	3	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:15349561C>G	ENST00000333590.4	-	2	576	c.492G>C	c.(490-492)tcG>tcC	p.S164S	PIGA_ENST00000482148.1_Intron|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000428964.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	164					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TTGTAAGCACCGAGCTGACAT	0.443													24	24					0	0	0	0	G	15349561	C	G	15349561	2	3	80	1	0	0	0	0	0	0	0	1	11956	639	23	3		3	PIGA	23	15349561	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08		15349561	139920999	542	15670											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29414435	29414435	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgaaaatgacactggActctgctataattccaagat	13	11	10	7	0	1	3	0	2	1	1	2	4	2	4	1	2	1	1	1	2	5	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:29414435A>T	ENST00000378993.1	+	4	1096	c.423A>T	c.(421-423)ggA>ggT	p.G141G	IL1RAPL1_ENST00000302196.4_Silent_p.G141G	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	141					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ATGACACTGGACTCTGCTATA	0.388													35	26					0	0	0	0	T	29414435	A	T	29414435	2	4	80	1	0	0	0	0	0	0	0	1	7714	262	10	5		5	IL1RAPL1	23	29414435	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08	14064874	29414435	125856125	543	15671											
MAGEB3	4114	broad.mit.edu	37	chrX	30254123	30254123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacccaggatcaccagggtGctcagatcactgcaactaac	13	6	9	13	0	3	2	3	0	0	2	3	3	3	3	2	2	4	2	2	2	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:30254123G>T	ENST00000361644.2	+	5	819	c.82G>T	c.(82-84)Gct>Tct	p.A28S	MAGEB3_ENST00000378986.1_Missense_Mutation_p.A28S	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	28										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TCACCAGGGTGCTCAGATCAC	0.517													16	23					1.15088e-07	1.31775e-07	1	0	T	30254123	G	T	30254123	3	4	80	1	0	0	0	0	1	0	0	0	9246	1319	46	4	84	4	MAGEB3	23	30254123	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	839688	30254123	125016437	544	15672											
MAGEB3	4114	broad.mit.edu	37	chrX	30254946	30254946	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caataaaactgtccccagtgCgttccagttctggtatgaag	11	11	9	10	1	1	1	0	1	1	0	3	1	3	1	3	1	2	3	3	1	5	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:30254946C>G	ENST00000361644.2	+	5	1642	c.905C>G	c.(904-906)gCg>gGg	p.A302G	MAGEB3_ENST00000378986.1_Missense_Mutation_p.A302G	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	302	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GTCCCCAGTGCGTTCCAGTTC	0.502													22	18					0	0	0	0	G	30254946	C	G	30254946	3	3	80	1	0	0	0	0	1	0	0	0	9246	768	27	3	907	3	MAGEB3	23	30254946	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	823	30254946	125015614	545	15673											
MAGEB1	4112	broad.mit.edu	37	chrX	30269234	30269234	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctctcctgggtgtgatCttcttaaagggcaactctgc	7	13	10	11	0	4	1	0	1	4	0	5	1	4	1	2	2	3	1	2	2	3	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:30269234C>A	ENST00000378981.3	+	4	945	c.624C>A	c.(622-624)atC>atA	p.I208I	MAGEB1_ENST00000397550.1_Silent_p.I208I|MAGEB1_ENST00000397548.2_Silent_p.I208I	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	208	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TGGGTGTGATCTTCTTAAAGG	0.493													3	7					0.004672	0.00483383	1	0	A	30269234	C	A	30269234	2	1	80	1	0	0	0	0	0	0	0	1	9241	903	32	2		2	MAGEB1	23	30269234	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	14288	30269234	125001326	546	15674											
CXorf22	170063	broad.mit.edu	37	chrX	35989850	35989850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatcgattgttaaccaccagGggtatagcatctcaggagga	13	9	11	8	1	1	0	1	0	1	0	3	3	1	2	2	4	2	3	2	4	4	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:35989850G>T	ENST00000297866.5	+	12	2184	c.2118G>T	c.(2116-2118)agG>agT	p.R706S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	706										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TAACCACCAGGGGTATAGCAT	0.418													16	32					0.00316338	0.00329279	1	0	T	35989850	G	T	35989850	3	4	80	1	0	0	0	0	1	0	0	0	4134	1223	43	4	2164	4	CXorf22	23	35989850	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	5720616	35989850	119280710	547	15675											
ZNF630	57232	broad.mit.edu	37	chrX	47919477	47919477	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgattatcaatatgccaGatttttaaaacagagtacaa	17	13	5	6	0	2	3	1	1	1	2	2	3	2	3	1	0	3	1	1	0	7	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:47919477G>C	ENST00000276054.4	-	0	916				ZNF630_ENST00000409324.3_Missense_Mutation_p.I118M|ZNF630_ENST00000442455.3_Missense_Mutation_p.I104M|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CAATATGCCAGATTTTTAAAA	0.373													5	5					0	0	0	0	C	47919477	G	C	47919477	1	2	80	1	0	0	0	0	0	0	0	0	18149	932	33	2		2	ZNF630	23	47919477	Translation_Start_Site	SNP	G	TCGA-CN-5360-01A-01D-1434-08	11929627	47919477	107351083	548	15676											
PJA1	64219	broad.mit.edu	37	chrX	68382107	68382107	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtcactcctcgcttcccgTttgtcttcagggtactttgg	3	16	10	12	2	3	0	2	0	1	0	6	0	5	0	2	3	1	3	2	3	1	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:68382107T>A	ENST00000361478.1	-	2	1352	c.975A>T	c.(973-975)aaA>aaT	p.K325N	PJA1_ENST00000374571.4_Missense_Mutation_p.K270N|PJA1_ENST00000374583.1_Missense_Mutation_p.K325N|PJA1_ENST00000374584.3_Missense_Mutation_p.K137N	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	325							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TCGCTTCCCGTTTGTCTTCAG	0.552													17	18					0	0	0	0	A	68382107	T	A	68382107	3	1	80	1	0	0	0	0	1	0	0	0	12033	1722	60	5	960	5	PJA1	23	68382107	Missense_Mutation	SNP	T	TCGA-CN-5360-01A-01D-1434-08	20462630	68382107	86888453	549	15677											
MED12	9968	broad.mit.edu	37	chrX	70340889	70340889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctgaatactaccggccaGggcctgcaggaagtgggggc	8	6	17	10	1	0	1	0	1	0	0	0	2	0	2	3	6	3	2	3	6	4	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:70340889G>T	ENST00000333646.6	+	5	821	c.622G>T	c.(622-624)Ggg>Tgg	p.G208W	MED12_ENST00000374080.3_Missense_Mutation_p.G208W|MED12_ENST00000374102.1_Missense_Mutation_p.G208W	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	208					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTACCGGCCAGGGCCTGCAGG	0.532			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						31	25					2.46105e-21	3.71592e-21	1	0	T	70340889	G	T	70340889	3	4	80	1	0	0	0	0	1	0	0	0	9497	1000	35	4	640	4	MED12	23	70340889	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1958782	70340889	84929671	550	15678											
KIAA2022	340533	broad.mit.edu	37	chrX	73963450	73963450	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgtcctgaaaggattcAtatcgaattttcagggagca	13	12	9	7	1	2	1	2	1	0	0	4	4	3	3	1	2	1	1	1	2	3	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:73963450A>G	ENST00000373468.1	-	3	1593	c.942T>C	c.(940-942)taT>taC	p.Y314Y	KIAA2022_ENST00000055682.5_Silent_p.Y314Y			Q5QGS0	K2022_HUMAN	KIAA2022	314					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAAAGGATTCATATCGAATTT	0.418													47	50					0	0	0	0	G	73963450	A	G	73963450	2	3	80	1	0	0	0	0	0	0	0	1	8320	224	8	5		5	KIAA2022	23	73963450	Silent	SNP	A	TCGA-CN-5360-01A-01D-1434-08	3622561	73963450	81307110	551	15679											
MAGEE2	139599	broad.mit.edu	37	chrX	75004401	75004401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctatcctatcggtgatctgGaaaccccgtttgctgactaa	9	12	9	11	2	1	2	0	2	1	0	3	3	2	3	3	2	2	3	3	2	4	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:75004401G>T	ENST00000373359.2	-	1	678	c.486C>A	c.(484-486)ttC>ttA	p.F162L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	162	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGTGATCTGGAAACCCCGTT	0.527													10	12					5.16669e-11	6.58537e-11	1	0	T	75004401	G	T	75004401	3	4	80	1	0	0	0	0	1	0	0	0	9255	1165	41	2	1089	2	MAGEE2	23	75004401	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1040951	75004401	80266159	552	15680											
TBX22	50945	broad.mit.edu	37	chrX	79281194	79281194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcacccggactcaccctGctcgggagagacctggatgc	7	8	12	14	2	2	1	2	0	0	1	3	5	2	4	3	3	2	2	3	3	0	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:79281194G>T	ENST00000442340.1	+	5	681	c.191G>T	c.(190-192)tGc>tTc	p.C64F	TBX22_ENST00000373291.1_Missense_Mutation_p.C64F|TBX22_ENST00000373294.5_Missense_Mutation_p.C184F|TBX22_ENST00000373296.3_Missense_Mutation_p.C184F	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	184					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.C184F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GACTCACCCTGCTCGGGAGAG	0.488													15	22					6.72482e-11	8.53966e-11	1	0	T	79281194	G	T	79281194	3	4	80	1	0	0	0	0	1	0	0	0	15752	1319	46	4	565	4	TBX22	23	79281194	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	4276793	79281194	75989366	553	15681											
DACH2	117154	broad.mit.edu	37	chrX	86069720	86069720	+	Frame_Shift_Del	DEL	A	A	-																															aaaagcgcctgaagaaggagAaaaaaaccaagagaaaattg																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:86069720delA	ENST00000373131.1	+	9	1691	c.1528delA	c.(1528-1530)aafs	p.K511fs	DACH2_ENST00000510272.1_Frame_Shift_Del_p.K305fs|DACH2_ENST00000508860.1_Frame_Shift_Del_p.K357fs|DACH2_ENST00000477378.2_Intron|DACH2_ENST00000373125.4_Frame_Shift_Del_p.K524fs	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	524	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GAAGAAGGAGAAAAAAACCAA	0.428													16	18	---	---	---	---					-	86069720	A	-	86069720	7	5	80	1	0	1	0	1	0	0	0	0	4254	247	9	0	1605	0	DACH2	23	86069720	Frame_Shift_Del	DEL	A	TCGA-CN-5360-01A-01D-1434-08	6788526	86069720	69200840	554	15682											
PABPC5	140886	broad.mit.edu	37	chrX	90691137	90691137	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattcccagaagagcgggcGgctgaggtcagaaccaggga	13	4	15	9	2	1	4	1	1	0	3	2	5	2	5	2	4	2	1	2	4	3	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:90691137G>T	ENST00000312600.3	+	2	775	c.561G>T	c.(559-561)gcG>gcT	p.A187A	PABPC5_ENST00000373105.1_Silent_p.A23A	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	187						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AAGAGCGGGCGGCTGAGGTCA	0.493													21	12					8.34094e-07	9.34784e-07	1	0	T	90691137	G	T	90691137	2	4	80	1	0	0	0	0	0	0	0	1	11438	1103	39	3		3	PABPC5	23	90691137	Silent	SNP	G	TCGA-CN-5360-01A-01D-1434-08	4621417	90691137	64579423	555	15683											
PABPC5	140886	broad.mit.edu	37	chrX	90691163	90691163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagaaccagggatagagCaactttcaccaatgttttcg	12	10	10	9	1	2	2	2	0	0	2	3	3	2	3	2	2	3	2	2	2	4	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:90691163C>A	ENST00000312600.3	+	2	801	c.587C>A	c.(586-588)gCa>gAa	p.A196E	PABPC5_ENST00000373105.1_Missense_Mutation_p.A32E	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	196						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AGGGATAGAGCAACTTTCACC	0.458													20	22					1.56452e-12	2.0512e-12	1	0	A	90691163	C	A	90691163	3	1	80	1	0	0	0	0	1	0	0	0	11438	710	25	4	589	4	PABPC5	23	90691163	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	26	90691163	64579397	556	15684											
PCDH11X	27328	broad.mit.edu	37	chrX	91134249	91134249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtgacgaccttcgaggtaCctgtgtccgtacacaccaga	10	8	10	13	3	0	2	0	1	0	1	2	4	1	2	4	1	2	2	4	1	2	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:91134249C>T	ENST00000373094.1	+	2	3855	c.3010C>T	c.(3010-3012)Cct>Tct	p.P1004S	PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1004S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P1004S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1004S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1004S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P1004S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P1004S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1004S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1004S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1004					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTCGAGGTACCTGTGTCCGT	0.423													44	72					0	0	0	0	T	91134249	C	T	91134249	3	4	80	1	0	0	0	0	1	0	0	0	11579	507	18	4	3016	4	PCDH11X	23	91134249	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	443086	91134249	64136311	557	15685											
TSPAN6	7105	broad.mit.edu	37	chrX	99890221	99890221	+	Frame_Shift_Del	DEL	A	A	-																															tggcagcgaccagttcgaccAaaaaaacgagagtcagaaac																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:99890221delA	ENST00000373020.4	-	3	416	c.305delT	c.(304-306)tgfs	p.L102fs	TSPAN6_ENST00000496771.1_5'UTR	NM_003270.2	NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	102					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						CAGTTCGACCAAAAAAACGAG	0.393													11	7	---	---	---	---					-	99890221	A	-	99890221	7	5	80	1	0	1	0	1	0	0	0	0	16746	131	5	0	452	0	TSPAN6	23	99890221	Frame_Shift_Del	DEL	A	TCGA-CN-5360-01A-01D-1434-08	8755972	99890221	55380339	558	15686											
USP26	83844	broad.mit.edu	37	chrX	132162179	132162179	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgcttcaatgaatgcttCttttgacttagatatcccag	10	15	6	10	0	2	3	1	2	1	1	3	3	3	3	1	0	2	2	1	0	4	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:132162179C>G	ENST00000511190.1	-	6	539	c.70G>C	c.(70-72)Gaa>Caa	p.E24Q	USP26_ENST00000406273.1_Missense_Mutation_p.E24Q|USP26_ENST00000370832.1_Missense_Mutation_p.E24Q	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	24					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATGAATGCTTCTTTTGACTTA	0.358													37	37					0	0	0	0	G	132162179	C	G	132162179	3	3	80	1	0	0	0	0	1	0	0	0	17153	922	32	2	2674	2	USP26	23	132162179	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	32271958	132162179	23108381	559	15687											
DDX26B	203522	broad.mit.edu	37	chrX	134680705	134680705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgggatcaaaggttatttGccctggtgttgcgtttgcct	5	16	13	7	1	1	0	1	0	0	0	1	1	1	1	2	3	3	4	2	3	2	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:134680705G>T	ENST00000370752.4	+	5	842	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	170	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGTTATTTGCCCTGGTGTT	0.468													44	50					1.76056e-25	2.77409e-25	1	0	T	134680705	G	T	134680705	3	4	80	1	0	0	0	0	1	0	0	0	4385	1319	46	4	526	4	DDX26B	23	134680705	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	2518526	134680705	20589855	560	15688											
CDR1	1038	broad.mit.edu	37	chrX	139866414	139866414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaattaatgtcttccaGcctacttgtgtcttccaaca	11	14	4	12	0	3	0	1	0	2	0	5	0	5	0	3	0	3	0	3	0	4	5			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:139866414G>T	ENST00000370532.2	-	1	309	c.118C>A	c.(118-120)Ctg>Atg	p.L40M		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	40	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ATGTCTTCCAGCCTACTTGTG	0.438													50	52					4.44712e-29	7.13826e-29	1	0	T	139866414	G	T	139866414	3	4	80	1	0	0	0	0	1	0	0	0	3200	962	34	4	674	4	CDR1	23	139866414	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	5185709	139866414	15404146	561	15689											
MAGEC1	9947	broad.mit.edu	37	chrX	140994309	140994309	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttttccccagtctcctctCcagattcctgggagcccctc	4	12	8	17	0	2	1	0	0	2	1	7	2	4	2	7	2	1	1	7	2	0	3			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:140994309C>A	ENST00000285879.4	+	4	1405	c.1119C>A	c.(1117-1119)ctC>ctA	p.L373L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	373							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCTCCTCTCCAGATTCCTG	0.478										HNSCC(15;0.026)			90	104					7.49063e-41	1.25208e-40	1	0	A	140994309	C	A	140994309	2	1	80	1	0	0	0	0	0	0	0	1	9249	842	30	2		2	MAGEC1	23	140994309	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1127895	140994309	14276251	562	15690											
MAGEC1	9947	broad.mit.edu	37	chrX	140995492	140995492	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagtcctcagagtcctcctGaggggcctgctcagtctcct	6	10	11	14	0	3	3	2	1	1	2	7	3	6	3	5	2	1	1	5	2	0	0			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:140995492G>C	ENST00000285879.4	+	4	2588	c.2302G>C	c.(2302-2304)Gag>Cag	p.E768Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	768							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCCTCCTGAGGGGCCTGC	0.537										HNSCC(15;0.026)			98	122					0	0	0	0	C	140995492	G	C	140995492	3	2	80	1	0	0	0	0	1	0	0	0	9249	1291	45	2	2308	2	MAGEC1	23	140995492	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1183	140995492	14275068	563	15691											
MAGEC1	9947	broad.mit.edu	37	chrX	140995643	140995643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtcctgtgagctccttccCctcctccacttcatcgagtc	5	12	7	17	1	1	1	1	1	0	0	8	3	6	1	6	0	1	1	6	0	0	2			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:140995643C>A	ENST00000285879.4	+	4	2739	c.2453C>A	c.(2452-2454)cCc>cAc	p.P818H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	818							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTCCTTCCCCTCCTCCACT	0.552										HNSCC(15;0.026)			106	124					1.52339e-35	2.50976e-35	1	0	A	140995643	C	A	140995643	3	1	80	1	0	0	0	0	1	0	0	0	9249	623	22	4	2459	4	MAGEC1	23	140995643	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	151	140995643	14274917	564	15692											
SLITRK4	139065	broad.mit.edu	37	chrX	142716466	142716466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaggtagtcaggggaaCtctgcagtttcgccttcagt	7	12	12	10	1	3	0	2	0	1	0	4	1	3	1	2	3	2	4	2	3	3	4			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:142716466C>A	ENST00000381779.4	-	2	2684	c.2459G>T	c.(2458-2460)aGt>aTt	p.S820I	SLITRK4_ENST00000356928.1_Missense_Mutation_p.S820I|SLITRK4_ENST00000338017.4_Missense_Mutation_p.S820I	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	820						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)					GTCAGGGGAACTCTGCAGTTT	0.393													45	42					3.86361e-14	5.22499e-14	1	0	A	142716466	C	A	142716466	3	1	80	1	0	0	0	0	1	0	0	0	14833	565	20	4	58	4	SLITRK4	23	142716466	Missense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1720823	142716466	12554094	565	15693											
SLITRK4	139065	broad.mit.edu	37	chrX	142717845	142717845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatatttttctcttggcaGttcacacttagtcccaaatc	9	17	5	10	0	2	0	1	0	1	0	5	0	3	0	1	1	0	3	1	1	4	7			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:142717845G>T	ENST00000381779.4	-	2	1305	c.1080C>A	c.(1078-1080)aaC>aaA	p.N360K	SLITRK4_ENST00000356928.1_Missense_Mutation_p.N360K|SLITRK4_ENST00000338017.4_Missense_Mutation_p.N360K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	360	LRRNT.					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)					TCTCTTGGCAGTTCACACTTA	0.458													71	67					1.34568e-36	2.22766e-36	1	0	T	142717845	G	T	142717845	3	4	80	1	0	0	0	0	1	0	0	0	14833	1020	36	4	1437	4	SLITRK4	23	142717845	Missense_Mutation	SNP	G	TCGA-CN-5360-01A-01D-1434-08	1379	142717845	12552715	566	15694											
SPANXN1	494118	broad.mit.edu	37	chrX	144337280	144337280	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaacagtattagcgttttgCtacaggaaagctaagaaaat	16	11	8	6	1	1	1	1	0	0	1	1	2	1	2	0	1	5	4	0	1	8	6			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:144337280C>A	ENST00000370493.3	+	2	924	c.165C>A	c.(163-165)tgC>tgA	p.C55*		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	55								p.C55C(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCGTTTTGCTACAGGAAAG	0.433													39	32					1.42033e-22	2.16837e-22	1	0	A	144337280	C	A	144337280	4	1	80	1	0	0	0	0	0	1	0	0	15080	805	28	4	171	4	SPANXN1	23	144337280	Nonsense_Mutation	SNP	C	TCGA-CN-5360-01A-01D-1434-08	1619435	144337280	10933280	567	15695											
PLXNB3	5365	broad.mit.edu	37	chrX	153034499	153034499	+	Frame_Shift_Del	DEL	G	G	-																															acctgctgctggacagcagtGgcagtcacctctatgtcctg																										TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:153034499delG	ENST00000538966.1	+	6	1703	c.1432delG	c.(1432-1434)gcfs	p.G478fs	PLXNB3_ENST00000361971.5_Frame_Shift_Del_p.G455fs|PLXNB3_ENST00000538776.1_Frame_Shift_Del_p.G108fs|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	455					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACAGCAGTGGCAGTCACCT	0.642													27	22	---	---	---	---					-	153034499	G	-	153034499	7	5	80	1	0	1	0	1	0	0	0	0	12197	1348	47	0	1495	0	PLXNB3	23	153034499	Frame_Shift_Del	DEL	G	TCGA-CN-5360-01A-01D-1434-08	8697219	153034499	2236061	568	15696											
L1CAM	3897	broad.mit.edu	37	chrX	153134316	153134316	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaacactgggcacaggCgctccgaaggccttgcacag	10	5	12	14	2	0	1	0	1	0	0	1	2	1	1	2	3	2	3	2	3	2	1			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:153134316C>A	ENST00000370060.1	-	12	1548	c.1359G>T	c.(1357-1359)gcG>gcT	p.A453A	L1CAM_ENST00000370055.1_Silent_p.A448A|L1CAM_ENST00000370057.3_Silent_p.A453A|L1CAM_ENST00000543994.1_Silent_p.A455A|L1CAM_ENST00000538883.1_Silent_p.A455A|L1CAM_ENST00000361699.4_Silent_p.A453A|L1CAM_ENST00000361981.3_Silent_p.A448A	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	453	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCACAGGCGCTCCGAAGG	0.632													46	48					2.31418e-15	3.17334e-15	1	0	A	153134316	C	A	153134316	2	1	80	1	0	0	0	0	0	0	0	1	8641	755	27	3		3	L1CAM	23	153134316	Silent	SNP	C	TCGA-CN-5360-01A-01D-1434-08	99817	153134316	2136244	569	15697											
PIK3CD	5293	broad.mit.edu	37	chr1	9787005	9787005	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacagaggaggaggcactGaagcacttccgagtgaagtt	15	6	13	7	1	0	3	0	2	0	1	1	6	1	5	1	3	2	3	1	3	4	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:9787005G>A	ENST00000536656.1	+	24	3316	c.3108G>A	c.(3106-3108)ctG>ctA	p.L1036L	PIK3CD_ENST00000377346.4_Silent_p.L1012L|PIK3CD_ENST00000361110.2_Silent_p.L1036L			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	1012	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		AGGAGGCACTGAAGCACTTCC	0.557													13	31					0	0	0	0	A	9787005	G	A	9787005	2	1	81	1	0	0	0	0	0	0	0	1	11987	1277	45	2		2	PIK3CD	1	9787005	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08		9787005	239463616	1	15698											
C8A	731	broad.mit.edu	37	chr1	57349161	57349161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttttcaggccctggCagatactggaatctcctcag	7	16	8	10	0	3	1	2	0	1	1	4	2	3	2	2	3	1	1	2	3	2	6	rs139740733		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:57349161C>T	ENST00000361249.3	+	6	758	c.662C>T	c.(661-663)gCa>gTa	p.A221V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	221	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CAGGCCCTGGCAGATACTGGA	0.338													11	104					0	0	0	0	T	57349161	C	T	57349161	3	4	81	1	0	0	0	0	1	0	0	0	2439	710	25	4	684	4	C8A	1	57349161	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	47562156	57349161	191901460	2	15699											
ROR1	4919	broad.mit.edu	37	chr1	64515514	64515514	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccaggagccccggaggctCtcctttcggtccaccatcta	6	9	10	16	2	2	0	0	0	2	0	6	2	4	2	6	4	1	1	6	4	1	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:64515514C>T	ENST00000371079.1	+	3	690	c.315C>T	c.(313-315)ctC>ctT	p.L105L	ROR1_ENST00000371080.1_Silent_p.L105L|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	105	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCCGGAGGCTCTCCTTTCGGT	0.572													55	181					0	0	0	0	T	64515514	C	T	64515514	2	4	81	1	0	0	0	0	0	0	0	1	13611	900	32	2		2	ROR1	1	64515514	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08	7166353	64515514	184735107	3	15700											
GIPC2	54810	broad.mit.edu	37	chr1	78591604	78591604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcaattgaaaagattgatGatgttcttgagttgtacatg	13	14	11	3	0	1	5	0	4	1	1	1	5	1	5	0	1	1	4	0	1	4	6			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:78591604G>A	ENST00000370759.3	+	5	947	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	252						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						AAAGATTGATGATGTTCTTGA	0.294													14	50					0	0	0	0	A	78591604	G	A	78591604	3	1	81	1	0	0	0	0	1	0	0	0	6444	1290	45	2	772	2	GIPC2	1	78591604	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	14076090	78591604	170659017	4	15701											
ZNF644	84146	broad.mit.edu	37	chr1	91403466	91403473	+	Frame_Shift_Del	DEL	TTTTTCTT	TTTTTCTT	-																															gcctttaagattttttcataTttttcttcattttgcatcat																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:91403466_91403473delTTTTTCTT	ENST00000370440.1	-	4	3474_3481	c.3257_3264delAAGAAAAA	c.(3256-3264)gfs	p.EEK1086fs	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Del_p.EEK1086fs|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1086					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTTTCATATTTTTCTTCATTTTGCAT	0.346													59	254	---	---	---	---					-	91403473	TTTTTCTT	-	91403466	7	5	81	1	0	1	0	1	0	0	0	0	18155	1490	52	0	731	0	ZNF644	1	91403466	Frame_Shift_Del	DEL	TTTTTCTT	TCGA-CN-5361-01A-01D-1434-08	12811862	91403466	157847155	5	15702											
MTF2	22823	broad.mit.edu	37	chr1	93602313	93602313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagaagaggtcgtcttcCaagaagagcactccagactc	14	6	11	10	1	1	6	0	0	1	6	5	7	3	6	2	1	1	1	2	1	4	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:93602313C>A	ENST00000370298.4	+	15	1800	c.1511C>A	c.(1510-1512)cCa>cAa	p.P504Q	MTF2_ENST00000540243.1_Missense_Mutation_p.P402Q|MTF2_ENST00000545708.1_Missense_Mutation_p.P402Q|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000370303.4_Missense_Mutation_p.P447Q	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	504						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GGTCGTCTTCCAAGAAGAGCA	0.408													43	111					5.59293e-11	6.02618e-11	1	0	A	93602313	C	A	93602313	3	1	81	1	0	0	0	0	1	0	0	0	9993	594	21	4	1569	4	MTF2	1	93602313	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	2198847	93602313	155648308	6	15703											
CAPZA1	829	broad.mit.edu	37	chr1	113189888	113189888	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggggaatttaatgaagtAttcaatggtgagtaaagatt	15	12	11	3	0	1	3	1	2	0	1	1	4	1	4	1	3	0	2	1	3	7	6			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:113189888A>C	ENST00000263168.3	+	2	768	c.96A>C	c.(94-96)gtA>gtC	p.V32V	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	32					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTAATGAAGTATTCAATGGTG	0.338													56	87					0	0	0	0	C	113189888	A	C	113189888	2	2	81	1	0	0	0	0	0	0	0	1	2665	436	16	5		5	CAPZA1	1	113189888	Silent	SNP	A	TCGA-CN-5361-01A-01D-1434-08	19587575	113189888	136060733	7	15704											
ADAM15	8751	broad.mit.edu	37	chr1	155025140	155025140	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcttggggtgtcctgggaCctgcaggtggcactgaggag	5	10	18	8	0	1	1	0	1	1	0	2	3	2	3	2	6	1	2	2	6	0	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:155025140C>G	ENST00000531455.1	+	2	139	c.103C>G	c.(103-105)Cct>Gct	p.P35A	ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000449910.2_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000447332.3_Intron|ADAM15_ENST00000359280.4_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000472434.1_Intron|ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000356955.2_Intron|ADAM15_ENST00000271836.6_Intron			Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	26					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGTCCTGGGACCTGCAGGTGG	0.617											OREG0013847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	12					0	0	0	0	G	155025140	C	G	155025140	3	3	81	1	0	0	0	0	1	0	0	0	237	522	18	4		4	ADAM15	1	155025140	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	41835252	155025140	94225481	8	15705											
CFHR5	81494	broad.mit.edu	37	chr1	196967390	196967390	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcttcagatacaggcactCagtctgtataaacgggaaat	14	10	8	9	1	4	1	2	0	2	1	4	2	4	2	0	2	2	2	0	2	5	4			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:196967390C>G	ENST00000367414.5	+	7	1231	c.1175C>G	c.(1174-1176)tCa>tGa	p.S392*	CFHR5_ENST00000256785.4_Nonsense_Mutation_p.S368*	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	368	Sushi 7.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TACAGGCACTCAGTCTGTATA	0.323													14	49					0	0	0	0	G	196967390	C	G	196967390	4	3	81	1	0	0	0	0	0	1	0	0	3317	838	29	2	1129	2	CFHR5	1	196967390	Nonsense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	41942250	196967390	52283231	9	15706											
NAV1	89796	broad.mit.edu	37	chr1	201778369	201778369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtggtggtgaggatgcccCcgcagcacatcatcaaaggg	9	6	16	10	1	2	1	2	1	0	0	2	2	2	2	2	5	2	2	2	5	1	0			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:201778369C>T	ENST00000367296.4	+	21	4705	c.4285C>T	c.(4285-4287)Ccg>Tcg	p.P1429S	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.P1426S|NAV1_ENST00000367297.4_Missense_Mutation_p.P1421S|NAV1_ENST00000367302.1_Missense_Mutation_p.P1382S|NAV1_ENST00000367300.3_Missense_Mutation_p.P1369S|NAV1_ENST00000367295.1_Missense_Mutation_p.P1035S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1429					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GAGGATGCCCCCGCAGCACAT	0.507													13	240					0	0	0	0	T	201778369	C	T	201778369	3	4	81	1	0	0	0	0	1	0	0	0	10253	623	22	4	4424	4	NAV1	1	201778369	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	4810979	201778369	47472252	10	15707											
AGT	183	broad.mit.edu	37	chr1	230846411	230846411	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgaaggtggggtctttGggcttcccggcattggcctt	4	13	16	8	1	1	1	0	1	1	0	2	1	2	1	2	7	0	3	2	7	2	5			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:230846411G>C	ENST00000366667.4	-	2	400	c.186C>G	c.(184-186)ccC>ccG	p.P62P		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	62					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TGGGGTCTTTGGGCTTCCCGG	0.567													8	103					0	0	0	0	C	230846411	G	C	230846411	2	2	81	1	0	0	0	0	0	0	0	1	399	1335	47	4		4	AGT	1	230846411	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	29068042	230846411	18404210	11	15708											
OR2W5	441932	broad.mit.edu	37	chr1	247654496	247654496	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttctgatcggcctggaCtggagaaaattctctttgct	7	14	10	10	1	3	2	0	1	3	1	5	4	3	3	1	3	1	2	1	3	2	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:247654496C>A	ENST00000522351.1	+	0	127							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCGGCCTGGACTGGAGAAAAT	0.488													22	81					7.41877e-09	7.88317e-09	1	0	A	247654496	C	A	247654496	1	1	81	0	1	0	0	0	0	0	0	0	11105	564	20	4		4	OR2W5	1	247654496	RNA	SNP	C	TCGA-CN-5361-01A-01D-1434-08	16808085	247654496	1596125	12	15709											
KIF3C	3797	broad.mit.edu	37	chr2	26203523	26203523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcaatcactgggccctcagGgtacccaggcggggcggaca	8	5	14	14	2	3	0	3	0	0	0	3	1	3	1	2	6	1	1	2	6	2	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:26203523G>T	ENST00000264712.3	-	1	1843	c.1264C>A	c.(1264-1266)Cct>Act	p.P422T	KIF3C_ENST00000405914.1_Missense_Mutation_p.P422T	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	422					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)					GGGCCCTCAGGGTACCCAGGC	0.662													56	175					2.53126e-37	2.9791e-37	1	0	T	26203523	G	T	26203523	3	4	81	1	0	0	0	0	1	0	0	0	8353	1232	43	4	1149	4	KIF3C	2	26203523	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08		26203523	216995850	13	15710											
HEATR5B	54497	broad.mit.edu	37	chr2	37215951	37215951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataaggagttgaaagggcacGattggaatgctggaagactg	14	8	15	4	1	0	2	0	1	0	1	0	6	0	5	0	4	1	3	0	4	4	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:37215951G>A	ENST00000233099.5	-	35	5844	c.5749C>T	c.(5749-5751)Cgt>Tgt	p.R1917C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R1828C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1917							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GAAAGGGCACGATTGGAATGC	0.358													33	75					0	0	0	0	A	37215951	G	A	37215951	3	1	81	1	0	0	0	0	1	0	0	0	7082	1058	37	1	474	1	HEATR5B	2	37215951	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	11012428	37215951	205983422	14	15711											
USP34	9736	broad.mit.edu	37	chr2	61597672	61597672	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatatatgctccaccacAttgttgctaataagccagtc	13	11	5	12	0	0	0	0	0	0	0	2	0	1	0	4	0	3	3	4	0	5	6			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:61597672A>G	ENST00000398571.2	-	9	1195	c.1119T>C	c.(1117-1119)aaT>aaC	p.N373N		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	373					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GCTCCACCACATTGTTGCTAA	0.303													29	86					0	0	0	0	G	61597672	A	G	61597672	2	3	81	1	0	0	0	0	0	0	0	1	17161	214	8	5		5	USP34	2	61597672	Silent	SNP	A	TCGA-CN-5361-01A-01D-1434-08	24381721	61597672	181601701	15	15712											
GFPT1	2673	broad.mit.edu	37	chr2	69601183	69601183	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtctctgaaggcctttgaTtagggtctccaggatttctc	7	14	10	10	0	3	2	0	2	3	0	6	3	3	3	2	3	0	0	2	3	2	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:69601183T>G	ENST00000357308.4	-	2	248	c.70A>C	c.(70-72)Atc>Ctc	p.I24L	GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.4_Missense_Mutation_p.I24L	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	24	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						AGGCCTTTGATTAGGGTCTCC	0.323													43	127					0	0	0	0	G	69601183	T	G	69601183	3	3	81	1	0	0	0	0	1	0	0	0	6396	1493	52	5	2047	5	GFPT1	2	69601183	Missense_Mutation	SNP	T	TCGA-CN-5361-01A-01D-1434-08	8003511	69601183	173598190	16	15713											
LRRTM1	347730	broad.mit.edu	37	chr2	80530937	80530937	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagagaccgagcagcaggAaatccattagcgagaatctt	15	6	11	9	2	1	2	0	0	1	2	2	7	2	3	2	1	3	2	2	1	3	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:80530937A>G	ENST00000295057.3	-	2	664	c.8T>C	c.(7-9)tTc>tCc	p.F3S	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.F3S|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	3						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGCAGCAGGAAATCCATTAG	0.562										HNSCC(69;0.2)			19	59					0	0	0	0	G	80530937	A	G	80530937	3	3	81	1	0	0	0	0	1	0	0	0	9103	246	9	5	1564	5	LRRTM1	2	80530937	Missense_Mutation	SNP	A	TCGA-CN-5361-01A-01D-1434-08	10929754	80530937	162668436	17	15714											
NCKAP5	344148	broad.mit.edu	37	chr2	133540069	133540069	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagcttggatgtactgcttgTttcaaaagtgcttggatgct	8	16	11	6	0	1	0	1	0	0	0	1	2	1	2	0	2	5	6	0	2	4	6			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:133540069T>C	ENST00000409261.1	-	14	4688	c.4315A>G	c.(4315-4317)Aca>Gca	p.T1439A	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.T1439A|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1439							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTACTGCTTGTTTCAAAAGTG	0.572													25	63					0	0	0	0	C	133540069	T	C	133540069	3	2	81	1	0	0	0	0	1	0	0	0	10293	1725	60	5	1442	5	NCKAP5	2	133540069	Missense_Mutation	SNP	T	TCGA-CN-5361-01A-01D-1434-08	53009132	133540069	109659304	18	15715											
BAZ2B	29994	broad.mit.edu	37	chr2	160239306	160239306	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttttcttagcatgaatgaTtctgagcctttaaatattat	11	19	6	5	0	2	3	0	3	2	0	2	3	2	3	1	0	2	2	1	0	6	8			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:160239306T>A	ENST00000392783.2	-	25	4264	c.3769A>T	c.(3769-3771)Atc>Ttc	p.I1257F	BAZ2B_ENST00000392782.1_Missense_Mutation_p.I1221F|BAZ2B_ENST00000355831.2_Missense_Mutation_p.I1223F|BAZ2B_ENST00000343439.5_Missense_Mutation_p.I1157F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GCATGAATGATTCTGAGCCTT	0.398													29	85					0	0	0	0	A	160239306	T	A	160239306	3	1	81	1	0	0	0	0	1	0	0	0	1336	1493	52	5	2789	5	BAZ2B	2	160239306	Missense_Mutation	SNP	T	TCGA-CN-5361-01A-01D-1434-08	26699237	160239306	82960067	19	15716											
ITGB6	3694	broad.mit.edu	37	chr2	161030575	161030575	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattcttcacaatttcattGaatctttcagcatcatttgt	10	19	4	8	0	6	2	4	2	2	0	6	2	6	2	0	0	1	1	0	0	2	6			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:161030575G>A	ENST00000283249.2	-	5	906	c.669C>T	c.(667-669)ttC>ttT	p.F223F	ITGB6_ENST00000428609.2_Silent_p.F181F|ITGB6_ENST00000409872.1_Silent_p.F223F|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Silent_p.F223F			P18564	ITB6_HUMAN	integrin, beta 6	223	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CAATTTCATTGAATCTTTCAG	0.353													17	52					0	0	0	0	A	161030575	G	A	161030575	2	1	81	1	0	0	0	0	0	0	0	1	7952	1281	45	2		2	ITGB6	2	161030575	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	791269	161030575	82168798	20	15717											
OSBPL6	114880	broad.mit.edu	37	chr2	179214036	179214036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgaatttcagactccccCtagccacctcactgaccctc	9	11	4	17	0	2	3	2	2	0	1	4	3	3	3	5	0	1	0	5	0	3	4			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:179214036C>T	ENST00000190611.4	+	12	1449	c.1073C>T	c.(1072-1074)cCt>cTt	p.P358L	OSBPL6_ENST00000315022.2_Missense_Mutation_p.P362L|OSBPL6_ENST00000409631.1_Missense_Mutation_p.P358L|OSBPL6_ENST00000409045.3_Missense_Mutation_p.P327L|OSBPL6_ENST00000392505.2_Missense_Mutation_p.P383L|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P358L|OSBPL6_ENST00000357080.4_Missense_Mutation_p.P327L	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	358					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CAGACTCCCCCTAGCCACCTC	0.438													83	278					0	0	0	0	T	179214036	C	T	179214036	3	4	81	1	0	0	0	0	1	0	0	0	11352	681	24	4	1233	4	OSBPL6	2	179214036	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	18183461	179214036	63985337	21	15718											
TTN	7273	broad.mit.edu	37	chr2	179476145	179476145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagagatttcagatggctcGctgacaccaatagcattgac	12	10	9	10	1	2	4	2	2	0	2	3	5	2	4	1	1	1	3	1	1	2	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:179476145G>A	ENST00000589042.1	-	269	51035	c.50811C>T	c.(50809-50811)agC>agT	p.S16937S	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.S7872S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.S15296S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.S8064S|TTN_ENST00000342992.6_Silent_p.S14369S|TTN_ENST00000359218.5_Silent_p.S7997S|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15296							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)			CAGATGGCTCGCTGACACCAA	0.408													24	89					0	0	0	0	A	179476145	G	A	179476145	2	1	81	1	0	0	0	0	0	0	0	1	16831	1078	38	1		1	TTN	2	179476145	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	262109	179476145	63723228	22	15719											
COL6A3	1293	broad.mit.edu	37	chr2	238253355	238253355	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccccgtgggcagttgctctCagcaatggtcaggtcattca	7	10	11	13	1	4	0	4	0	1	0	5	0	4	0	2	3	2	4	2	3	1	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:238253355C>G	ENST00000295550.4	-	36	7758	c.7306G>C	c.(7306-7308)Gag>Cag	p.E2436Q	COL6A3_ENST00000353578.4_Missense_Mutation_p.E2230Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.E2230Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E2235Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E2236Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1829Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2436	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGTTGCTCTCAGCAATGGTC	0.557													41	160					0	0	0	0	G	238253355	C	G	238253355	3	3	81	1	0	0	0	0	1	0	0	0	3731	835	29	2	2263	2	COL6A3	2	238253355	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	58777210	238253355	4946018	23	15720											
COL6A3	1293	broad.mit.edu	37	chr2	238253401	238253401	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcaagaccacatctcgcatCcggccgaaagtgtcttggtt	9	10	9	13	3	3	1	1	0	2	1	5	2	4	1	3	2	0	2	3	2	2	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:238253401C>G	ENST00000295550.4	-	36	7712	c.7260G>C	c.(7258-7260)cgG>cgC	p.R2420R	COL6A3_ENST00000353578.4_Silent_p.R2214R|COL6A3_ENST00000409809.1_Silent_p.R2214R|COL6A3_ENST00000347401.3_Silent_p.R2219R|COL6A3_ENST00000346358.4_Silent_p.R2220R|COL6A3_ENST00000472056.1_Silent_p.R1813R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2420	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATCTCGCATCCGGCCGAAAG	0.567													57	173					0	0	0	0	G	238253401	C	G	238253401	2	3	81	1	0	0	0	0	0	0	0	1	3731	842	30	2		2	COL6A3	2	238253401	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08	46	238253401	4945972	24	15721											
ITPR1	3708	broad.mit.edu	37	chr3	4699938	4699938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagatcccaccactctgcGtggaggtgacagccttgtcc	7	9	11	14	1	1	2	0	1	1	1	3	3	3	3	4	2	2	1	4	2	1	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:4699938G>A	ENST00000354582.6	+	13	1477	c.1127G>A	c.(1126-1128)cGt>cAt	p.R376H	ITPR1_ENST00000443694.2_Missense_Mutation_p.R361H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.R376H|ITPR1_ENST00000456211.2_Missense_Mutation_p.R361H|ITPR1_ENST00000423119.2_Missense_Mutation_p.R376H|ITPR1_ENST00000302640.8_Missense_Mutation_p.R361H			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	376					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACCACTCTGCGTGGAGGTGAC	0.493													20	44					0	0	0	0	A	4699938	G	A	4699938	3	1	81	1	0	0	0	0	1	0	0	0	7973	1145	40	1	1169	1	ITPR1	3	4699938	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08		4699938	193322492	25	15722											
SCN11A	11280	broad.mit.edu	37	chr3	38888755	38888755	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattgaagttctctaaaatCacagcaatgtacatgttgac	14	13	7	7	0	2	2	1	2	1	0	3	2	2	2	0	0	2	5	0	0	6	6			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:38888755C>A	ENST00000302328.3	-	26	5004	c.4806G>T	c.(4804-4806)gtG>gtT	p.V1602V	SCN11A_ENST00000456224.3_Silent_p.V1564V|SCN11A_ENST00000450244.1_Silent_p.V1602V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1602					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTCTAAAATCACAGCAATGT	0.413													4	123					0.00909568	0.00927759	1	0	A	38888755	C	A	38888755	2	1	81	1	0	0	0	0	0	0	0	1	14000	813	29	2		2	SCN11A	3	38888755	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08	34188817	38888755	159133675	26	15723											
CSRNP1	64651	broad.mit.edu	37	chr3	39186502	39186502	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaccttccactgcagcaTctccaacttctcctctttca	7	14	2	18	0	5	0	1	0	4	0	8	0	6	0	4	0	4	2	4	0	2	4			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:39186502T>A	ENST00000273153.5	-	3	628	c.451A>T	c.(451-453)Atg>Ttg	p.M151L	CSRNP1_ENST00000514182.1_Missense_Mutation_p.M151L	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	151					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CACTGCAGCATCTCCAACTTC	0.617													27	39					0	0	0	0	A	39186502	T	A	39186502	3	1	81	1	0	0	0	0	1	0	0	0	3995	1435	50	5	1330	5	CSRNP1	3	39186502	Missense_Mutation	SNP	T	TCGA-CN-5361-01A-01D-1434-08	297747	39186502	158835928	27	15724											
COL7A1	1294	broad.mit.edu	37	chr3	48626135	48626135	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgacaagtgcagtcactcGcactgagtagctgactccac	10	7	9	15	2	1	2	1	2	0	0	3	3	2	2	2	0	2	4	2	0	2	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:48626135G>A	ENST00000328333.8	-	19	2634	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.R843*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	843	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGTCACTCGCACTGAGTAG	0.617													29	54					0	0	0	0	A	48626135	G	A	48626135	4	1	81	1	0	0	0	0	0	1	0	0	3734	1095	38	1	6707	1	COL7A1	3	48626135	Nonsense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	9439633	48626135	149396295	28	15725											
HPS3	84343	broad.mit.edu	37	chr3	148889972	148889972	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaacatttttcttgccatAtcttctctattgcagtcgaa	9	17	5	10	1	3	0	0	0	3	0	5	1	3	0	1	0	4	2	1	0	4	7			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:148889972A>G	ENST00000296051.2	+	17	3118	c.2978A>G	c.(2977-2979)tAt>tGt	p.Y993C	HPS3_ENST00000460120.1_Missense_Mutation_p.Y828C	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	993						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)			TTCTTGCCATATCTTCTCTAT	0.343									Hermansky-Pudlak syndrome				44	57					0	0	0	0	G	148889972	A	G	148889972	3	3	81	1	0	0	0	0	1	0	0	0	7390	449	16	5	3044	5	HPS3	3	148889972	Missense_Mutation	SNP	A	TCGA-CN-5361-01A-01D-1434-08	100263837	148889972	49132458	29	15726											
EIF4G1	1981	broad.mit.edu	37	chr3	184039213	184039213	+	Missense_Mutation	SNP	G	G	T																															cggggtctgagcctaatctcGcagtcctctctattcctggg																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:184039213G>T	ENST00000342981.4	+	9	1255	c.841G>T	c.(841-843)Gca>Tca	p.A281S	EIF4G1_ENST00000352767.3_Missense_Mutation_p.A288S|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A194S|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A241S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A288S|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A85S|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A117S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A117S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A241S|EIF4G1_ENST00000346169.2_Missense_Mutation_p.A281S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A281S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A194S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A288S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A85S	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	281					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTAATCTCGCAGTCCTCTC	0.552													24	116					7.87624e-14	8.66954e-14	1	0	T	184039213	G	T	184039213	3	4	81	1	0	0	0	0	1	0	0	0	5074	1087	38	3	871	3	EIF4G1	3	184039213	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	35149241	184039213	13983217	30	15727	138	2									
EIF4G1	1981	broad.mit.edu	37	chr3	184039214	184039214	+	Missense_Mutation	SNP	C	C	T																															ggggtctgagcctaatctcgCagtcctctctattcctgggg																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:184039214C>T	ENST00000342981.4	+	9	1256	c.842C>T	c.(841-843)gCa>gTa	p.A281V	EIF4G1_ENST00000352767.3_Missense_Mutation_p.A288V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A194V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A241V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A288V|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A85V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A117V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A117V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A241V|EIF4G1_ENST00000346169.2_Missense_Mutation_p.A281V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A281V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A194V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A288V|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A85V	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	281					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTAATCTCGCAGTCCTCTCT	0.547													24	114					0	0	0	0	T	184039214	C	T	184039214	3	4	81	1	0	0	0	0	1	0	0	0	5074	710	25	4	872	4	EIF4G1	3	184039214	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	1	184039214	13983216	31	15728	138	2									
TP63	8626	broad.mit.edu	37	chr3	189526081	189526081	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacagtacacgaacctgggGctcctgaacagcatggacca	12	5	10	14	1	0	1	0	1	0	0	1	3	1	2	4	3	4	3	4	3	3	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:189526081G>T	ENST00000264731.3	+	4	434	c.345G>T	c.(343-345)ggG>ggT	p.G115G	TP63_ENST00000440651.2_Silent_p.G115G|TP63_ENST00000392460.3_Silent_p.G115G|TP63_ENST00000320472.5_Silent_p.G115G|TP63_ENST00000418709.2_Silent_p.G115G|TP63_ENST00000449992.1_Intron|TP63_ENST00000392463.2_Silent_p.G21G|TP63_ENST00000382063.4_Intron|TP63_ENST00000392461.3_Silent_p.G21G|TP63_ENST00000456148.1_Silent_p.G21G|TP63_ENST00000354600.5_Silent_p.G21G|TP63_ENST00000437221.1_Silent_p.G21G	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	115					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGAACCTGGGGCTCCTGAACA	0.567										HNSCC(45;0.13)			143	152					6.50729e-104	7.90171e-104	1	0	T	189526081	G	T	189526081	2	4	81	1	0	0	0	0	0	0	0	1	16487	1190	42	4		4	TP63	3	189526081	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	5486867	189526081	8496349	32	15729											
WDFY3	23001	broad.mit.edu	37	chr4	85731060	85731060	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtcaaaagaatctgtggcTactttgtaaagataaataaa	17	12	7	5	0	2	2	1	0	1	2	2	2	2	2	0	1	1	2	0	1	10	5			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:85731060T>A	ENST00000322366.6	-	14	2732	c.2325A>T	c.(2323-2325)gtA>gtT	p.V775V	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Silent_p.V775V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	775						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATCTGTGGCTACTTTGTAAA	0.363													29	75					0	0	0	0	A	85731060	T	A	85731060	2	1	81	1	0	0	0	0	0	0	0	1	17366	1509	53	5		5	WDFY3	4	85731060	Silent	SNP	T	TCGA-CN-5361-01A-01D-1434-08		85731060	105423216	33	15730											
MANBA	4126	broad.mit.edu	37	chr4	103578879	103578879	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acggccaggactgatatccaTattcagatgcaaatcgagct	13	9	9	10	2	1	2	1	1	0	1	3	4	2	3	2	2	2	2	2	2	3	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:103578879T>C	ENST00000226578.4	-	12	1763	c.1664A>G	c.(1663-1665)tAt>tGt	p.Y555C	MANBA_ENST00000505239.1_Missense_Mutation_p.Y498C	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	555					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CTGATATCCATATTCAGATGC	0.358													33	105					0	0	0	0	C	103578879	T	C	103578879	3	2	81	1	0	0	0	0	1	0	0	0	9288	1406	49	5	999	5	MANBA	4	103578879	Missense_Mutation	SNP	T	TCGA-CN-5361-01A-01D-1434-08	17847819	103578879	87575397	34	15731											
TACR3	6870	broad.mit.edu	37	chr4	104511031	104511031	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggactccattctggtcacGgtgtacatactgctttgccg	7	13	10	11	2	2	0	1	0	1	0	3	1	3	1	2	3	4	2	2	3	2	4			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:104511031G>A	ENST00000304883.2	-	5	1346	c.1206C>T	c.(1204-1206)acC>acT	p.T402T	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	402						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTCTGGTCACGGTGTACATAC	0.502													88	281					0	0	0	0	A	104511031	G	A	104511031	2	1	81	1	0	0	0	0	0	0	0	1	15598	1103	39	1		1	TACR3	4	104511031	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	932152	104511031	86643245	35	15732											
PDE5A	8654	broad.mit.edu	37	chr4	120528105	120528105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaaattttgtgacataagGctgtgacatccaaatgacta	16	11	8	6	0	0	4	0	3	0	1	1	4	1	4	1	1	0	1	1	1	5	4			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:120528105G>T	ENST00000354960.3	-	2	819	c.500C>A	c.(499-501)gCc>gAc	p.A167D	PDE5A_ENST00000394439.1_Missense_Mutation_p.A115D|PDE5A_ENST00000264805.5_Missense_Mutation_p.A125D	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	167	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTGACATAAGGCTGTGACATC	0.428													49	110					6.61955e-31	7.67266e-31	1	0	T	120528105	G	T	120528105	3	4	81	1	0	0	0	0	1	0	0	0	11715	1203	42	4	2207	4	PDE5A	4	120528105	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	16017074	120528105	70626171	36	15733											
RXFP1	59350	broad.mit.edu	37	chr4	159560442	159560442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggattgaaatttcaaatatCcaacaaaggatgtttagacc	16	11	8	6	0	1	2	1	1	0	1	2	4	2	4	2	2	1	1	2	2	6	5			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:159560442C>G	ENST00000307765.5	+	14	1325	c.1074C>G	c.(1072-1074)atC>atG	p.I358M	RXFP1_ENST00000460056.2_Missense_Mutation_p.I277M|RXFP1_ENST00000470033.1_Missense_Mutation_p.I325M|RXFP1_ENST00000343542.5_Missense_Mutation_p.I310M|RXFP1_ENST00000448688.2_Missense_Mutation_p.I253M	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	358						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TTTCAAATATCCAACAAAGGA	0.274													14	75					0	0	0	0	G	159560442	C	G	159560442	3	3	81	1	0	0	0	0	1	0	0	0	13844	845	30	2	1128	2	RXFP1	4	159560442	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	39032337	159560442	31593834	37	15734											
RAPGEF2	9693	broad.mit.edu	37	chr4	160252611	160252611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtagtattattgtgggtaaAtaatcacttcaatgactttg	12	16	9	4	0	2	1	2	1	0	0	2	1	2	1	0	2	0	3	0	2	7	8			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:160252611A>G	ENST00000264431.4	+	8	1432	c.1013A>G	c.(1012-1014)aAt>aGt	p.N338S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	338	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTGTGGGTAAATAATCACTTC	0.303													22	63					0	0	0	0	G	160252611	A	G	160252611	3	3	81	1	0	0	0	0	1	0	0	0	13126	101	4	5	1043	5	RAPGEF2	4	160252611	Missense_Mutation	SNP	A	TCGA-CN-5361-01A-01D-1434-08	692169	160252611	30901665	38	15735											
WWC2	80014	broad.mit.edu	37	chr4	184203868	184203868	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttttaccataggctaacaAtgctaagagaggcctctgat	12	12	9	8	0	1	2	0	1	1	1	1	3	1	2	2	2	3	3	2	2	5	5			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:184203868A>G	ENST00000403733.3	+	18	2891	c.2692A>G	c.(2692-2694)Atg>Gtg	p.M898V	WWC2_ENST00000513834.1_Missense_Mutation_p.M849V|WWC2_ENST00000504005.1_Missense_Mutation_p.M580V|WWC2_ENST00000508747.1_Missense_Mutation_p.M26V|WWC2_ENST00000448232.2_Missense_Mutation_p.M922V	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	898										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TAGGCTAACAATGCTAAGAGA	0.413													2	4					0	0	0	0	G	184203868	A	G	184203868	3	3	81	1	0	0	0	0	1	0	0	0	17508	101	4	5	2762	5	WWC2	4	184203868	Missense_Mutation	SNP	A	TCGA-CN-5361-01A-01D-1434-08	23951257	184203868	6950408	39	15736											
CTNND2	1501	broad.mit.edu	37	chr5	11384811	11384811	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctggagggtggccgtGgcatacagctcctgcgagtg	5	8	17	11	2	1	0	0	0	1	0	2	2	2	1	3	5	3	2	3	5	1	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:11384811G>C	ENST00000304623.8	-	7	1332	c.1143C>G	c.(1141-1143)gcC>gcG	p.A381A	CTNND2_ENST00000359640.2_Silent_p.A381A|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000511377.1_Silent_p.A290A|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	381					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGGTGGCCGTGGCATACAGCT	0.697													10	30					0	0	0	0	C	11384811	G	C	11384811	2	2	81	1	0	0	0	0	0	0	0	1	4052	1335	47	4		4	CTNND2	5	11384811	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08		11384811	169530449	40	15737											
HCN1	348980	broad.mit.edu	37	chr5	45396672	45396672	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgacaaacatggcatagcaGgtggccccgacgatcatgct	11	6	11	13	3	1	0	1	0	0	0	1	3	1	0	3	3	3	3	3	3	2	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:45396672G>C	ENST00000303230.4	-	4	1209	c.1152C>G	c.(1150-1152)acC>acG	p.T384T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	384						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGGCATAGCAGGTGGCCCCGA	0.507													23	76					0	0	0	0	C	45396672	G	C	45396672	2	2	81	1	0	0	0	0	0	0	0	1	7046	987	35	4		4	HCN1	5	45396672	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	34011861	45396672	135518588	41	15738											
TTC37	9652	broad.mit.edu	37	chr5	94849321	94849321	+	Missense_Mutation	SNP	T	T	A																															tgaagagatccatggtgtcaTaacttccaactgcctcagca																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:94849321T>A	ENST00000358746.2	-	27	3030	c.2732A>T	c.(2731-2733)tAt>tTt	p.Y911F	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	911							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CATGGTGTCATAACTTCCAAC	0.328													28	59					0	0	0	0	A	94849321	T	A	94849321	3	1	81	1	0	0	0	0	1	0	0	0	16801	1406	49	5	2030	5	TTC37	5	94849321	Missense_Mutation	SNP	T	TCGA-CN-5361-01A-01D-1434-08	49452649	94849321	86065939	42	15739	139	2									
TTC37	9652	broad.mit.edu	37	chr5	94849322	94849322	+	Missense_Mutation	SNP	A	A	T																															gaagagatccatggtgtcatAacttccaactgcctcagcaa																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:94849322A>T	ENST00000358746.2	-	27	3029	c.2731T>A	c.(2731-2733)Tat>Aat	p.Y911N	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	911							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATGGTGTCATAACTTCCAACT	0.333													28	58					0	0	0	0	T	94849322	A	T	94849322	3	4	81	1	0	0	0	0	1	0	0	0	16801	362	13	5	2031	5	TTC37	5	94849322	Missense_Mutation	SNP	A	TCGA-CN-5361-01A-01D-1434-08	1	94849322	86065938	43	15740	139	2									
UIMC1	51720	broad.mit.edu	37	chr5	176396609	176396609	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggagacatgccttcagtGagcccagagtctgtggtttt	8	11	13	9	0	2	3	1	1	1	2	2	4	2	3	2	2	2	1	2	2	0	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:176396609G>T	ENST00000377219.2	-	5	622	c.456C>A	c.(454-456)ctC>ctA	p.L152L	UIMC1_ENST00000506128.1_Silent_p.L152L|UIMC1_ENST00000377227.4_Silent_p.L152L|UIMC1_ENST00000511320.1_Silent_p.L152L	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	152	Necessary for interaction with NR6A1 N- terminus.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCTTCAGTGAGCCCAGAGT	0.517													23	22					1.36565e-18	1.53635e-18	1	0	T	176396609	G	T	176396609	2	4	81	1	0	0	0	0	0	0	0	1	17067	1277	45	2		2	UIMC1	5	176396609	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	81547287	176396609	4518651	44	15741											
OR2V2	285659	broad.mit.edu	37	chr5	180582306	180582306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggactcatggcttatGaccgctatgtggccattagc	7	12	12	10	1	1	1	1	1	0	0	1	2	1	2	2	3	2	3	2	3	3	3	rs150156274	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:180582306G>T	ENST00000328275.1	+	1	364	c.364G>T	c.(364-366)Gac>Tac	p.D122Y		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D122N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGGCTTATGACCGCTATGT	0.522													59	72					1.77205e-36	2.06964e-36	1	0	T	180582306	G	T	180582306	3	4	81	1	0	0	0	0	1	0	0	0	11102	1290	45	2	366	2	OR2V2	5	180582306	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	4185697	180582306	332954	45	15742											
OR2B6	26212	broad.mit.edu	37	chr6	27925495	27925495	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagtaactcagtgtggttGtctaccctgactctccagct	7	15	8	11	0	3	1	1	1	2	0	4	1	3	1	2	1	3	3	2	1	3	5			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:27925495G>A	ENST00000244623.1	+	1	477	c.477G>A	c.(475-477)ttG>ttA	p.L159L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGTGTGGTTGTCTACCCTGA	0.488													44	103					0	0	0	0	A	27925495	G	A	27925495	2	1	81	1	0	0	0	0	0	0	0	1	11062	1368	48	4		4	OR2B6	6	27925495	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08		27925495	143189572	46	15743											
PKHD1	5314	broad.mit.edu	37	chr6	51947979	51947979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaaaaccccaacctaccatCaaaaatgactgtgatccacg	16	7	5	13	1	1	2	1	2	0	0	2	2	2	2	5	0	3	1	5	0	6	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:51947979C>T	ENST00000371117.3	-	3	402	c.127G>A	c.(127-129)Gat>Aat	p.D43N	PKHD1_ENST00000340994.4_Missense_Mutation_p.D43N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	43	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACCTACCATCAAAAATGACT	0.398													13	117					0	0	0	0	T	51947979	C	T	51947979	3	4	81	1	0	0	0	0	1	0	0	0	12043	826	29	2	12396	2	PKHD1	6	51947979	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	24022484	51947979	119167088	47	15744											
ZNF451	26036	broad.mit.edu	37	chr6	56999545	56999545	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcttttgctgagtaggttCgatcactctccatgtgatcc	6	15	8	12	1	3	2	1	2	2	0	6	3	4	2	3	1	1	3	3	1	1	4			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:56999545C>T	ENST00000370706.4	+	7	823	c.579C>T	c.(577-579)ttC>ttT	p.F193F	RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Silent_p.F193F|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Silent_p.F193F|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.F193F(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGAGTAGGTTCGATCACTCTC	0.353													32	96					0	0	0	0	T	56999545	C	T	56999545	2	4	81	1	0	0	0	0	0	0	0	1	18017	883	31	1		1	ZNF451	6	56999545	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08	5051566	56999545	114115522	48	15745											
LGSN	51557	broad.mit.edu	37	chr6	63990490	63990490	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaacatgtttttcttcctAtcgacatcccagagactatg	11	13	6	11	1	1	2	0	0	1	2	4	4	3	2	2	0	1	1	2	0	3	5			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:63990490A>G	ENST00000370658.5	-	5	578	c.545T>C	c.(544-546)aTa>aCa	p.I182T	LGSN_ENST00000370657.4_Silent_p.D322D	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	346					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTTTCTTCCTATCGACATCCC	0.438													33	81					0	0	0	0	G	63990490	A	G	63990490	3	3	81	1	0	0	0	0	1	0	0	0	8813	449	16	5	567	5	LGSN	6	63990490	Missense_Mutation	SNP	A	TCGA-CN-5361-01A-01D-1434-08	6990945	63990490	107124577	49	15746											
CD109	135228	broad.mit.edu	37	chr6	74516767	74516767	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttacagcctatattgtaaCttctctcctgggatatagaa	12	14	6	9	0	1	1	0	0	1	1	3	2	2	2	2	1	3	1	2	1	7	8	rs141815508		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:74516767C>G	ENST00000437994.2	+	25	3592	c.3161C>G	c.(3160-3162)aCt>aGt	p.T1054S	CD109_ENST00000422508.2_Missense_Mutation_p.T977S|CD109_ENST00000287097.5_Missense_Mutation_p.T1054S	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1054						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATATTGTAACTTCTCTCCTG	0.363													16	51					0	0	0	0	G	74516767	C	G	74516767	3	3	81	1	0	0	0	0	1	0	0	0	2992	565	20	4	3259	4	CD109	6	74516767	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	10526277	74516767	96598300	50	15747											
MYO6	4646	broad.mit.edu	37	chr6	76527375	76527375	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgaacccttgaatcagaaAggcaaggtgagtttctcaga	14	10	10	7	0	2	5	2	3	1	2	3	5	2	5	1	2	1	2	1	2	4	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:76527375A>G	ENST00000369981.3	+	2	390	c.111A>G	c.(109-111)aaA>aaG	p.K37K	MYO6_ENST00000369975.1_Silent_p.K37K|MYO6_ENST00000369977.3_Silent_p.K37K|MYO6_ENST00000369985.4_Silent_p.K37K			Q9UM54	MYO6_HUMAN	myosin VI	37	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TGAATCAGAAAGGCAAGGTGA	0.403													23	98					0	0	0	0	G	76527375	A	G	76527375	2	3	81	1	0	0	0	0	0	0	0	1	10151	69	3	5		5	MYO6	6	76527375	Silent	SNP	A	TCGA-CN-5361-01A-01D-1434-08	2010608	76527375	94587692	51	15748											
ZNF292	23036	broad.mit.edu	37	chr6	87969024	87969024	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctgaaatgataaacattCaatttaatgacaaagttaat	18	15	4	4	0	2	3	1	3	1	0	2	3	2	3	0	0	1	1	0	0	7	6			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:87969024C>T	ENST00000369577.3	+	8	5720	c.5677C>T	c.(5677-5679)Caa>Taa	p.Q1893*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.Q1888*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1893					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GATAAACATTCAATTTAATGA	0.353													23	63					0	0	0	0	T	87969024	C	T	87969024	4	4	81	1	0	0	0	0	0	1	0	0	17921	827	29	2	5707	2	ZNF292	6	87969024	Nonsense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	11441649	87969024	83146043	52	15749											
MCHR2	84539	broad.mit.edu	37	chr6	100368869	100368869	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatttccttctcagtcgCtcttctttggatttgaggca	5	18	9	9	1	3	2	1	2	3	0	6	3	4	3	1	2	0	3	1	2	0	6			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:100368869C>A	ENST00000281806.2	-	6	1284	c.970G>T	c.(970-972)Gcg>Tcg	p.A324S	MCHR2_ENST00000369212.1_Missense_Mutation_p.A324S|MCHR2_ENST00000445970.1_Missense_Mutation_p.A324S	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	324						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTCTCAGTCGCTCTTCTTTGG	0.423													45	190					1.86633e-21	2.14699e-21	1	0	A	100368869	C	A	100368869	3	1	81	1	0	0	0	0	1	0	0	0	9452	797	28	4	56	4	MCHR2	6	100368869	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	12399845	100368869	70746198	53	15750											
SLC35F1	222553	broad.mit.edu	37	chr6	118228939	118228939	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgcagccgccgtcgccagCcccgccgaaccatgtggtga	6	5	13	17	5	0	1	0	1	0	0	1	2	0	1	7	1	4	2	7	1	1	0			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:118228939C>A	ENST00000360388.4	+	1	251	c.50C>A	c.(49-51)gCc>gAc	p.A17D		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	17					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCGTCGCCAGCCCCGCCGAAC	0.746													4	10					0.184627	0.187073	1	0	A	118228939	C	A	118228939	3	1	81	1	0	0	0	0	1	0	0	0	14676	739	26	4	52	4	SLC35F1	6	118228939	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	17860070	118228939	52886128	54	15751											
TBPL1	9519	broad.mit.edu	37	chr6	134308158	134308158	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttacccatttgtgtttgaaAgcaggaaagaaattttataa	15	15	7	4	0	0	2	0	1	0	1	0	3	0	3	1	1	2	2	1	1	6	7			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:134308158A>G	ENST00000237264.4	+	7	816	c.541A>G	c.(541-543)Agc>Ggc	p.S181G	TBPL1_ENST00000477527.1_3'UTR	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	181					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		TGTGTTTGAAAGCAGGAAAGA	0.398													23	83					0	0	0	0	G	134308158	A	G	134308158	3	3	81	1	0	0	0	0	1	0	0	0	15739	72	3	5	563	5	TBPL1	6	134308158	Missense_Mutation	SNP	A	TCGA-CN-5361-01A-01D-1434-08	16079219	134308158	36806909	55	15752											
ESR1	2099	broad.mit.edu	37	chr6	152129446	152129446	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtgccctactacctggaGaacgagcccagcggctacac	10	5	11	15	2	0	1	0	0	0	1	0	3	0	1	3	3	7	1	3	3	4	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:152129446G>A	ENST00000440973.1	+	3	769	c.399G>A	c.(397-399)gaG>gaA	p.E133E	ESR1_ENST00000206249.3_Silent_p.E133E|ESR1_ENST00000443427.1_Silent_p.E133E|ESR1_ENST00000456483.2_Silent_p.E133E|ESR1_ENST00000406599.1_Silent_p.E133E|ESR1_ENST00000338799.5_Silent_p.E133E	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	133	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	ACTACCTGGAGAACGAGCCCA	0.736													3	6					0	0	0	0	A	152129446	G	A	152129446	2	1	81	1	0	0	0	0	0	0	0	1	5294	933	33	2		2	ESR1	6	152129446	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	17821288	152129446	18985621	56	15753											
OGDH	4967	broad.mit.edu	37	chr7	44715628	44715628	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggatcaatcgtgtcacCgacaggaacattaccttgtc	11	9	9	12	3	2	0	2	0	0	0	4	3	2	2	2	2	2	1	2	2	3	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:44715628C>A	ENST00000222673.5	+	9	1128	c.1086C>A	c.(1084-1086)acC>acA	p.T362T	OGDH_ENST00000449767.1_Silent_p.T358T|OGDH_ENST00000543843.1_Silent_p.T313T|OGDH_ENST00000444676.1_Silent_p.T377T|OGDH_ENST00000439616.2_Silent_p.T212T|OGDH_ENST00000447398.1_Silent_p.T373T|OGDH_ENST00000443864.2_Silent_p.T362T	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	362					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ATCGTGTCACCGACAGGAACA	0.552													165	135					2.19381e-74	2.64294e-74	1	0	A	44715628	C	A	44715628	2	1	81	1	0	0	0	0	0	0	0	1	10910	639	23	3		3	OGDH	7	44715628	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08		44715628	114423035	57	15754											
TNS3	64759	broad.mit.edu	37	chr7	47385791	47385791	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtggcacatacctctttGacgtccgctggtgaggggaa	7	10	14	10	2	1	2	0	2	1	0	2	3	2	3	2	4	1	3	2	4	2	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:47385791G>C	ENST00000398879.1	-	18	2811	c.2445C>G	c.(2443-2445)gtC>gtG	p.V815V	TNS3_ENST00000355730.3_Silent_p.V575V|TNS3_ENST00000311160.9_Silent_p.V815V			Q68CZ2	TENS3_HUMAN	tensin 3	815						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATACCTCTTTGACGTCCGCTG	0.592													26	101					0	0	0	0	C	47385791	G	C	47385791	2	2	81	1	0	0	0	0	0	0	0	1	16438	1277	45	2		2	TNS3	7	47385791	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	2670163	47385791	111752872	58	15755											
PNPLA8	50640	broad.mit.edu	37	chr7	108112931	108112935	+	Frame_Shift_Del	DEL	CTTGA	CTTGA	-																															tttctgcagagttgttttttCttgacttaatatttttgcaa																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:108112931_108112935delCTTGA	ENST00000426128.2	-	10	2198_2202	c.2073_2077delTCAAG	c.(2071-2079)agaafs	p.SQE691fs	PNPLA8_ENST00000453144.1_Frame_Shift_Del_p.SQE653fs|PNPLA8_ENST00000257694.8_Frame_Shift_Del_p.SQE753fs|PNPLA8_ENST00000436062.1_Frame_Shift_Del_p.SQE753fs|PNPLA8_ENST00000388728.5_Frame_Shift_Del_p.SQE691fs|PNPLA8_ENST00000422087.1_Frame_Shift_Del_p.SQE753fs	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	753					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GTTGTTTTTTCTTGACTTAATATTT	0.288													10	59	---	---	---	---					-	108112935	CTTGA	-	108112931	7	5	81	1	0	1	0	1	0	0	0	0	12243	922	32	0	89	0	PNPLA8	7	108112931	Frame_Shift_Del	DEL	CTTGA	TCGA-CN-5361-01A-01D-1434-08	60727140	108112931	51025732	59	15756											
SMO	6608	broad.mit.edu	37	chr7	128852282	128852282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaactcatggatgcagactCggacttctgagcctgcagag	11	8	12	10	1	2	4	1	1	1	3	3	6	2	6	1	2	4	2	1	2	1	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:128852282C>T	ENST00000249373.3	+	12	2634	c.2354C>T	c.(2353-2355)tCg>tTg	p.S785L	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	785					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GATGCAGACTCGGACTTCTGA	0.607			Mis		skin basal cell								26	102					0	0	0	0	T	128852282	C	T	128852282	3	4	81	1	0	0	0	0	1	0	0	0	14888	893	31	1	2400	1	SMO	7	128852282	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	20739351	128852282	30286381	60	15757											
PRSS1	5644	broad.mit.edu	37	chr7	142460802	142460802	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgcccagaagaacaaGcctggagtctacaccaaggt	12	6	12	11	0	1	2	0	0	1	2	1	3	1	3	3	3	4	1	3	3	5	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:142460802G>A	ENST00000486171.1	+	6	734	c.717G>A	c.(715-717)aaG>aaA	p.K239K	PRSS1_ENST00000311737.7_Silent_p.K225K			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	225	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGAAGAACAAGCCTGGAGTCT	0.512													9	202					0	0	0	0	A	142460802	G	A	142460802	2	1	81	1	0	0	0	0	0	0	0	1	12693	962	34	4		4	PRSS1	7	142460802	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	13608520	142460802	16677861	61	15758											
NCAPG2	54892	broad.mit.edu	37	chr7	158454900	158454900	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttaccttaaatactttcaGatactctggaagcacagagg	14	11	7	9	0	2	2	1	0	1	2	2	3	2	3	1	2	4	1	1	2	6	5			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:158454900G>A	ENST00000409339.3	-	16	2088	c.1975C>T	c.(1975-1977)Ctg>Ttg	p.L659L	NCAPG2_ENST00000449727.2_Silent_p.L659L|NCAPG2_ENST00000541468.1_Silent_p.L160L|NCAPG2_ENST00000356309.3_Silent_p.L659L|NCAPG2_ENST00000409423.1_Silent_p.L659L|NCAPG2_ENST00000275830.10_Silent_p.L451L			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	659					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AATACTTTCAGATACTCTGGA	0.323													20	50					0	0	0	0	A	158454900	G	A	158454900	2	1	81	1	0	0	0	0	0	0	0	1	10278	933	33	2		2	NCAPG2	7	158454900	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	15994098	158454900	683763	62	15759											
ZFHX4	79776	broad.mit.edu	37	chr8	77619978	77619978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgagcagtgagcgctctCtccctgaagaggaatggagg	10	8	15	8	1	1	4	0	3	1	1	3	6	2	6	1	3	2	2	1	3	2	0			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr8:77619978C>A	ENST00000521891.2	+	3	3236	c.2788C>A	c.(2788-2790)Ctc>Atc	p.L930I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L904I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L904I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L904I|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	904						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L930V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAGCGCTCTCTCCCTGAAGA	0.512										HNSCC(33;0.089)			12	53					6.40141e-05	6.66269e-05	1	0	A	77619978	C	A	77619978	3	1	81	1	0	0	0	0	1	0	0	0	17730	913	32	2	2794	2	ZFHX4	8	77619978	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08		77619978	68744044	63	15760											
FBXO43	286151	broad.mit.edu	37	chr8	101153460	101153460	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatcttctgatttctccAagctaagtgagttaaaacca	13	12	8	8	0	3	2	0	2	3	0	4	3	3	3	2	1	2	2	2	1	5	4			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr8:101153460A>T	ENST00000428847.2	-	2	1338	c.1022T>A	c.(1021-1023)tTg>tAg	p.L341*		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	341					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TGATTTCTCCAAGCTAAGTGA	0.428													45	150					0	0	0	0	T	101153460	A	T	101153460	4	4	81	1	0	0	0	0	0	1	0	0	5797	131	5	5	1120	5	FBXO43	8	101153460	Nonsense_Mutation	SNP	A	TCGA-CN-5361-01A-01D-1434-08	23533482	101153460	45210562	64	15761											
GLI4	2738	broad.mit.edu	37	chr8	144358773	144358773	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatctggagctccgtgctCatcgagcaccagcgcatcca	8	9	9	15	3	3	0	2	0	1	0	6	2	5	1	3	1	4	4	3	1	0	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr8:144358773C>T	ENST00000340042.1	+	4	1015	c.930C>T	c.(928-930)ctC>ctT	p.L310L	GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Silent_p.L310L	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	310						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCTCCGTGCTCATCGAGCACC	0.667													7	11					0	0	0	0	T	144358773	C	T	144358773	2	4	81	1	0	0	0	0	0	0	0	1	6491	813	29	2		2	GLI4	8	144358773	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08	43205313	144358773	2005249	65	15762											
TXN	7295	broad.mit.edu	37	chr9	113013678	113013678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcaaggcccacaccacGtggctgagaagtcaactact	11	9	9	12	1	1	1	1	1	0	1	1	2	1	1	2	2	3	2	2	2	4	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr9:113013678G>A	ENST00000374517.5	-	2	293	c.89C>T	c.(88-90)aCg>aTg	p.T30M	TXN_ENST00000374515.5_Missense_Mutation_p.T30M	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	30	Thioredoxin.				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		CCCACACCACGTGGCTGAGAA	0.388													16	45					0	0	0	0	A	113013678	G	A	113013678	3	1	81	1	0	0	0	0	1	0	0	0	16886	1145	40	1	244	1	TXN	9	113013678	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08		113013678	28199753	66	15763											
SLC34A3	142680	broad.mit.edu	37	chr9	140128317	140128317	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctccctgccctccccagacCcaggagaacagcagctgtgg	8	5	10	18	0	0	2	0	0	0	2	2	3	2	2	6	2	4	2	6	2	1	0			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr9:140128317C>A	ENST00000538474.1	+	9	1073	c.849C>A	c.(847-849)acC>acA	p.T283T	SLC34A3_ENST00000361134.2_Silent_p.T283T	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	283					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTCCCCAGACCCAGGAGAACA	0.687													6	18					0.000274275	0.000283541	1	0	A	140128317	C	A	140128317	2	1	81	1	0	0	0	0	0	0	0	1	14657	610	22	4		4	SLC34A3	9	140128317	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08	27114639	140128317	1085114	67	15764											
KIAA1217	56243	broad.mit.edu	37	chr10	24831690	24831691	+	Frame_Shift_Ins	INS	-	-	T																															aaaatggcccccaaatggaaINSttccaaaaggtgagttcacc																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:24831690_24831691insT	ENST00000376451.2	+	13	2912_2913	c.2652_2653insT	c.(2650-2655)gatccafs	p.P885fs	KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Frame_Shift_Ins_p.P885fs|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Frame_Shift_Ins_p.P1202fs|KIAA1217_ENST00000376452.3_Frame_Shift_Ins_p.P1166fs			Q5T5P2	SKT_HUMAN	KIAA1217	1202					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCCAAATGGAATTCCAAAAGGT	0.426													22	44	---	---	---	---					T	24831691	-	T	24831690	7	5	81	1	0	1	1	0	0	0	0	0	8267	98	4	0	3673	0	KIAA1217	10	24831690	Frame_Shift_Ins	INS	-	TCGA-CN-5361-01A-01D-1434-08		24831690	110703057	68	15765											
MASTL	84930	broad.mit.edu	37	chr10	27459203	27459208	+	In_Frame_Del	DEL	GGGAAA	GGGAAA	-																															ggatatctgaagagcaccttGggaaaagaagtttaaaaaga																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:27459203_27459208delGGGAAA	ENST00000375946.4	+	8	1918_1923	c.1315_1320delGGGAAA	c.(1315-1320)del	p.GK439del	MASTL_ENST00000375940.4_In_Frame_Del_p.GK439del|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_In_Frame_Del_p.GK439del	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	439	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGCACCTTGGGAAAAGAAGTTTAA	0.34													13	105	---	---	---	---					-	27459208	GGGAAA	-	27459203	7	5	81	1	0	1	0	1	0	0	0	0	9397	1348	47	0	1345	0	MASTL	10	27459203	In_Frame_Del	DEL	GGGAAA	TCGA-CN-5361-01A-01D-1434-08	2627513	27459203	108075544	69	15766											
PARD3	56288	broad.mit.edu	37	chr10	34671476	34671476	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataggtcgtacctttcttaAgctggatattaagcctcttg	9	15	9	8	1	2	0	0	0	2	0	3	2	2	1	2	2	3	2	2	2	5	7			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:34671476A>C	ENST00000374789.3	-	9	1716	c.1391T>G	c.(1390-1392)cTt>cGt	p.L464R	PARD3_ENST00000374776.1_Missense_Mutation_p.L464R|PARD3_ENST00000374788.3_Missense_Mutation_p.L464R|PARD3_ENST00000545260.1_Missense_Mutation_p.L420R|PARD3_ENST00000544292.1_Missense_Mutation_p.L194R|PARD3_ENST00000374790.3_Missense_Mutation_p.L420R|PARD3_ENST00000545693.1_Missense_Mutation_p.L464R|PARD3_ENST00000340077.5_Missense_Mutation_p.L464R|PARD3_ENST00000350537.4_Missense_Mutation_p.L464R|PARD3_ENST00000374794.3_Missense_Mutation_p.L420R|PARD3_ENST00000346874.4_Missense_Mutation_p.L464R|PARD3_ENST00000374773.1_Missense_Mutation_p.L464R	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	464	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ACCTTTCTTAAGCTGGATATT	0.393													47	142					0	0	0	0	C	34671476	A	C	34671476	3	2	81	1	0	0	0	0	1	0	0	0	11514	72	3	5	2782	5	PARD3	10	34671476	Missense_Mutation	SNP	A	TCGA-CN-5361-01A-01D-1434-08	7212273	34671476	100863271	70	15767											
MYPN	84665	broad.mit.edu	37	chr10	69908207	69908207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggtggcccaacctcgtGtggcaaccatccagcaggta	9	9	11	12	1	0	0	0	0	0	0	2	0	1	0	4	4	3	3	4	4	3	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:69908207G>T	ENST00000358913.5	+	5	1716	c.1228G>T	c.(1228-1230)Gtg>Ttg	p.V410L	MYPN_ENST00000540630.1_Missense_Mutation_p.V410L|MYPN_ENST00000373675.3_Missense_Mutation_p.V410L|MYPN_ENST00000354393.2_Missense_Mutation_p.V135L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	410	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCAACCTCGTGTGGCAACCAT	0.527													23	67					2.32416e-17	2.59559e-17	1	0	T	69908207	G	T	69908207	3	4	81	1	0	0	0	0	1	0	0	0	10168	1377	48	4	1242	4	MYPN	10	69908207	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	35236731	69908207	65626540	71	15768											
CDH23	64072	broad.mit.edu	37	chr10	73553321	73553321	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctagagtaccacattgtCggcattgtggccaaggacga	12	8	12	9	2	0	1	0	0	0	1	1	3	0	2	2	3	2	3	2	3	4	4			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:73553321C>A	ENST00000224721.6	+	47	6656	c.6651C>A	c.(6649-6651)gtC>gtA	p.V2217V		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2212	Cadherin 21.			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).	calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCACATTGTCGGCATTGTGG	0.567													18	43					3.52763e-06	3.69676e-06	1	0	A	73553321	C	A	73553321	2	1	81	1	0	0	0	0	0	0	0	1	3137	871	31	3		3	CDH23	10	73553321	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08	3645114	73553321	61981426	72	15769											
PPP1R3C	5507	broad.mit.edu	37	chr10	93390209	93390209	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccggaaacttaagtaatcGgttgaaggctgagggaaatc	13	9	12	7	2	0	2	0	2	0	0	3	4	1	4	1	4	1	3	1	4	5	3	rs35287022	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:93390209G>A	ENST00000238994.5	-	2	513	c.429C>T	c.(427-429)acC>acT	p.T143T		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	143	Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				TTAAGTAATCGGTTGAAGGCT	0.433													48	125					0	0	0	0	A	93390209	G	A	93390209	2	1	81	1	0	0	0	0	0	0	0	1	12449	1103	39	1		1	PPP1R3C	10	93390209	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	19836888	93390209	42144538	73	15770											
DDB2	1643	broad.mit.edu	37	chr11	47256422	47256422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaaaatttgggacctgCgccaggttagagggaaagcc	12	7	14	8	1	0	2	0	1	0	1	0	4	0	4	3	3	2	1	3	3	4	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:47256422C>T	ENST00000256996.4	+	6	1012	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.R209C	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	273			R -> H (in XP-E; impairs interaction with DDB1 and CUL4A).		nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTGGGACCTGCGCCAGGTTAG	0.537			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				14	35					0	0	0	0	T	47256422	C	T	47256422	3	4	81	1	0	0	0	0	1	0	0	0	4356	768	27	1	839	1	DDB2	11	47256422	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08		47256422	87750094	74	15771											
OR5D18	219438	broad.mit.edu	37	chr11	55587681	55587681	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctccctttcttgctctgaTacttacatcaaccagtggct	7	15	5	14	0	4	1	1	1	3	0	5	1	4	1	2	1	4	2	2	1	3	4			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:55587681T>A	ENST00000333976.4	+	1	596	c.576T>A	c.(574-576)gaT>gaA	p.D192E		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTTGCTCTGATACTTACATCA	0.398													48	192					0	0	0	0	A	55587681	T	A	55587681	3	1	81	1	0	0	0	0	1	0	0	0	11228	1403	49	5	578	5	OR5D18	11	55587681	Missense_Mutation	SNP	T	TCGA-CN-5361-01A-01D-1434-08	8331259	55587681	79418835	75	15772											
SPTBN2	6712	broad.mit.edu	37	chr11	66463950	66463950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagcgcctgtgcaggtctCtcagcttctccgacaccagg	6	8	10	17	2	3	0	1	0	2	0	5	1	3	0	4	2	3	2	4	2	0	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:66463950C>G	ENST00000533211.1	-	21	4407	c.4076G>C	c.(4075-4077)aGa>aCa	p.R1359T	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1359T|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1359T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1359					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTGCAGGTCTCTCAGCTTCTC	0.587													75	236					0	0	0	0	G	66463950	C	G	66463950	3	3	81	1	0	0	0	0	1	0	0	0	15210	913	32	2	3168	2	SPTBN2	11	66463950	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	10876269	66463950	68542566	76	15773											
PC	5091	broad.mit.edu	37	chr11	66620711	66620711	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagtctcgggccagaccGaggtagtgcaacagcttttg	8	8	15	10	2	1	1	0	0	1	1	2	2	1	1	2	3	3	4	2	3	2	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:66620711G>T	ENST00000393960.1	-	13	1793	c.1513_splice	c.e13+1	p.L504_splice	PC_ENST00000393955.2_Splice_Site_p.L504_splice|PC_ENST00000393958.2_Splice_Site_p.L504_splice	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	504					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGGCCAGACCGAGGTAGTGCA	0.617													27	74					7.41945e-09	7.88317e-09	1	0	T	66620711	G	T	66620711	5	4	81	1	0	0	0	0	0	0	1	0	11568	1072	37	3	2068	3	PC	11	66620711	Splice_Site	SNP	G	TCGA-CN-5361-01A-01D-1434-08	156761	66620711	68385805	77	15774											
PITPNM1	9600	broad.mit.edu	37	chr11	67261028	67261028	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatatccggccggcctgtGacatacacgatcaggtagcc	9	8	11	13	3	1	1	1	1	0	0	2	2	2	1	4	3	3	2	4	3	3	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:67261028G>A	ENST00000356404.3	-	22	3420	c.3195C>T	c.(3193-3195)gtC>gtT	p.V1065V	PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000534749.1_Silent_p.V1065V|PITPNM1_ENST00000436757.2_Silent_p.V1064V	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1065					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCCGGCCTGTGACATACACGA	0.687													10	7					0	0	0	0	A	67261028	G	A	67261028	2	1	81	1	0	0	0	0	0	0	0	1	12022	1277	45	2		2	PITPNM1	11	67261028	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	640317	67261028	67745488	78	15775											
IGHMBP2	3508	broad.mit.edu	37	chr11	68696781	68696781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggccagaaagtgcatcctGgcgggcgatcacaagcagct	12	5	13	11	2	1	1	1	0	0	1	2	2	2	1	2	3	3	3	2	3	3	0			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:68696781G>A	ENST00000255078.3	+	8	1302	c.1191G>A	c.(1189-1191)ctG>ctA	p.L397L		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	397	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGTGCATCCTGGCGGGCGATC	0.632													167	390					0	0	0	0	A	68696781	G	A	68696781	2	1	81	1	0	0	0	0	0	0	0	1	7644	1335	47	4		4	IGHMBP2	11	68696781	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	1435753	68696781	66309735	79	15776											
MRGPRD	116512	broad.mit.edu	37	chr11	68748063	68748063	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccggtgacacttgaaccaGatagggaagaggacagagag	14	4	16	7	1	0	5	0	2	0	3	0	8	0	7	2	4	1	0	2	4	3	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:68748063G>C	ENST00000309106.3	-	1	392	c.393C>G	c.(391-393)atC>atG	p.I131M		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	131						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACTTGAACCAGATAGGGAAGA	0.577													16	142					0	0	0	0	C	68748063	G	C	68748063	3	2	81	1	0	0	0	0	1	0	0	0	9833	932	33	2	575	2	MRGPRD	11	68748063	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	51282	68748063	66258453	80	15777											
CCDC83	220047	broad.mit.edu	37	chr11	85627150	85627150	+	Frame_Shift_Del	DEL	T	T	-																															gatgagagcactatcttacaTcttagtcatgaaaatagcat																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:85627150delT	ENST00000280245.4	+	11	1559	c.1047delT	c.(1045-1047)cafs	p.H349fs	CCDC83_ENST00000376067.1_Frame_Shift_Del_p.H218fs|CCDC83_ENST00000342404.3_Frame_Shift_Del_p.H318fs	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	318										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTATCTTACATCTTAGTCATG	0.383													61	111	---	---	---	---					-	85627150	T	-	85627150	7	5	81	1	0	1	0	1	0	0	0	0	2884	1432	50	0	1085	0	CCDC83	11	85627150	Frame_Shift_Del	DEL	T	TCGA-CN-5361-01A-01D-1434-08	16879087	85627150	49379366	81	15778											
KCNJ1	3758	broad.mit.edu	37	chr11	128709328	128709328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaacaccactaattcaaagtCctgctggagaagggtctccg	13	8	9	11	1	2	1	1	0	1	1	4	2	3	1	3	2	2	1	3	2	4	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:128709328C>T	ENST00000392665.2	-	2	955	c.811G>A	c.(811-813)Gac>Aac	p.D271N	KCNJ1_ENST00000392664.2_Missense_Mutation_p.D290N|KCNJ1_ENST00000392666.1_Missense_Mutation_p.D271N|KCNJ1_ENST00000324036.3_Missense_Mutation_p.D271N|KCNJ1_ENST00000440599.2_Missense_Mutation_p.D271N	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	290					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	AATTCAAAGTCCTGCTGGAGA	0.478													37	72					0	0	0	0	T	128709328	C	T	128709328	3	4	81	1	0	0	0	0	1	0	0	0	8096	855	30	2	311	2	KCNJ1	11	128709328	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	43082178	128709328	6297188	82	15779											
ACAD8	27034	broad.mit.edu	37	chr11	134131693	134131693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcgcggctgatggtccGcaatgcagcagtggctctgc	5	7	16	13	4	1	1	0	1	1	0	2	1	2	1	2	4	3	5	2	4	1	0			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:134131693G>A	ENST00000281182.4	+	9	1107	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000374752.4_Missense_Mutation_p.R207H|ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000537423.1_Missense_Mutation_p.R257H	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	334			R -> C (in IBDD).		branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CTGATGGTCCGCAATGCAGCA	0.557													3	33					0	0	0	0	A	134131693	G	A	134131693	3	1	81	1	0	0	0	0	1	0	0	0	110	1087	38	1	1035	1	ACAD8	11	134131693	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	5422365	134131693	874823	83	15780											
B4GALNT3	283358	broad.mit.edu	37	chr12	663005	663005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgggaccagaccttcaGtgcccggaatctcgacttcc	10	8	9	14	2	2	1	1	0	1	1	4	4	3	3	4	2	2	0	4	2	2	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:663005G>A	ENST00000266383.5	+	14	1929	c.1916G>A	c.(1915-1917)aGt>aAt	p.S639N		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	639						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)			CAGACCTTCAGTGCCCGGAAT	0.542													11	181					0	0	0	0	A	663005	G	A	663005	3	1	81	1	0	0	0	0	1	0	0	0	1272	1029	36	4	1970	4	B4GALNT3	12	663005	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08		663005	133188890	84	15781											
PDE3A	5139	broad.mit.edu	37	chr12	20833104	20833104	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatccctggaccagacccctCagtcgcactcttcagaacag	11	7	7	16	1	3	2	2	0	1	2	5	3	4	3	4	1	1	1	4	1	2	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:20833104C>T	ENST00000359062.3	+	16	3365	c.3325C>T	c.(3325-3327)Cag>Tag	p.Q1109*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1109					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCAGACCCCTCAGTCGCACTC	0.488													39	119					0	0	0	0	T	20833104	C	T	20833104	4	4	81	1	0	0	0	0	0	1	0	0	11708	827	29	2	3387	2	PDE3A	12	20833104	Nonsense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	20170099	20833104	113018791	85	15782											
SCN8A	6334	broad.mit.edu	37	chr12	52056740	52056740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgatggcagtcatcgggagGacgatgaggacagcaagccc	11	4	15	11	3	1	1	1	1	0	0	2	6	1	4	2	4	2	2	2	4	1	0			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:52056740G>A	ENST00000354534.5	+	2	317	c.139G>A	c.(139-141)Gac>Aac	p.D47N	SCN8A_ENST00000545061.1_Missense_Mutation_p.D47N|SCN8A_ENST00000550891.1_Missense_Mutation_p.D47N	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	47					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCATCGGGAGGACGATGAGGA	0.552													43	111					0	0	0	0	A	52056740	G	A	52056740	3	1	81	1	0	0	0	0	1	0	0	0	14011	1174	41	2	141	2	SCN8A	12	52056740	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	31223636	52056740	81795155	86	15783											
ANKRD52	283373	broad.mit.edu	37	chr12	56638175	56638175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagggccgtgttcttgttctCatccaacacagtaaggtctg	8	12	11	10	1	3	0	1	0	3	0	5	1	4	0	2	2	1	3	2	2	2	4			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:56638175C>T	ENST00000267116.7	-	25	2888	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	923							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TTCTTGTTCTCATCCAACACA	0.507													17	47					0	0	0	0	T	56638175	C	T	56638175	3	4	81	1	0	0	0	0	1	0	0	0	677	835	29	2	479	2	ANKRD52	12	56638175	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	4581435	56638175	77213720	87	15784											
HMGA2	8091	broad.mit.edu	37	chr12	66221845	66221845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggcagcaaaaacaagaGtccctctaaagcagctcaaa	19	4	7	11	0	2	1	1	0	1	1	3	1	3	1	1	1	4	4	1	1	7	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:66221845G>T	ENST00000541363.1	+	2	549	c.176G>T	c.(175-177)aGt>aTt	p.S59I	HMGA2_ENST00000393578.3_Missense_Mutation_p.S59I|HMGA2_ENST00000403681.2_Missense_Mutation_p.S59I|HMGA2_ENST00000425208.2_Missense_Mutation_p.S59I|HMGA2_ENST00000536545.1_Missense_Mutation_p.S59I|HMGA2_ENST00000393577.3_Missense_Mutation_p.S59I|HMGA2_ENST00000354636.3_Missense_Mutation_p.S59I			P52926	HMGA2_HUMAN	high mobility group AT-hook 2	59	Interaction with E4F1.				cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		AAAAACAAGAGTCCCTCTAAA	0.463			T	" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"	"lipoma, leiomyoma, pleiomorphic salivary gland adenoma"								17	70					4.14922e-12	4.50234e-12	1	0	T	66221845	G	T	66221845	3	4	81	1	0	0	0	0	1	0	0	0	7274	1029	36	4	182	4	HMGA2	12	66221845	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	9583670	66221845	67630050	88	15785											
CAMKK2	10645	broad.mit.edu	37	chr12	121678561	121678561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgcgtgcgggggagccggGggcgggggcccagcaacttt	5	5	20	11	4	0	0	0	0	0	0	0	1	0	1	2	6	5	1	2	6	1	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:121678561G>A	ENST00000324774.5	-	17	2536	c.1708C>T	c.(1708-1710)Ccc>Tcc	p.P570S	CAMKK2_ENST00000404169.3_Missense_Mutation_p.P570S|CAMKK2_ENST00000545538.1_Intron|CAMKK2_ENST00000412367.2_3'UTR|CAMKK2_ENST00000337174.3_3'UTR|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000538733.1_3'UTR|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P527S|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P570S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	570					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGGAGCCGGGGGCGGGGGCC	0.711													8	41					0	0	0	0	A	121678561	G	A	121678561	3	1	81	1	0	0	0	0	1	0	0	0	2632	1232	43	4	62	4	CAMKK2	12	121678561	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	55456716	121678561	12173334	89	15786											
WDR66	144406	broad.mit.edu	37	chr12	122359424	122359424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggggaaggaggacaaaaaGattgtcatggaagaaactga	18	5	15	3	0	1	3	1	1	0	2	1	8	1	7	0	5	1	0	0	5	5	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:122359424G>C	ENST00000288912.4	+	2	1067	c.213G>C	c.(211-213)aaG>aaC	p.K71N	WDR66_ENST00000397454.2_Missense_Mutation_p.K71N	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	71	Glu-rich.						calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		aggaCAAAAAGATTGTCATGG	0.498													16	30					0	0	0	0	C	122359424	G	C	122359424	3	2	81	1	0	0	0	0	1	0	0	0	17413	933	33	2	215	2	WDR66	12	122359424	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	680863	122359424	11492471	90	15787											
NALCN	259232	broad.mit.edu	37	chr13	101759854	101759854	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacgcgttgaagcgtgctcGgaccaccacccggcaaaagt	10	7	11	13	5	0	1	0	1	0	0	1	2	0	2	3	2	3	3	3	2	4	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr13:101759854G>A	ENST00000251127.6	-	22	2644	c.2563C>T	c.(2563-2565)Cga>Tga	p.R855*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	855						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.R855*(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGCGTGCTCGGACCACCACC	0.507													60	68					0	0	0	0	A	101759854	G	A	101759854	4	1	81	1	0	0	0	0	0	1	0	0	10218	1124	39	1	2745	1	NALCN	13	101759854	Nonsense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08		101759854	13410024	91	15788											
PSME1	5720	broad.mit.edu	37	chr14	24607452	24607452	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacaccaagctagaaggCttccacactcaaatctctaa	14	8	4	15	0	2	1	1	0	1	1	5	1	4	1	3	1	1	2	3	1	5	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr14:24607452C>G	ENST00000382708.3	+	8	570	c.507C>G	c.(505-507)ggC>ggG	p.G169G	PSME1_ENST00000206451.6_Silent_p.G169G|PSME1_ENST00000559123.1_Silent_p.G10G|PSME1_ENST00000561435.1_Silent_p.G169G	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	169					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		AGCTAGAAGGCTTCCACACTC	0.473													134	383					0	0	0	0	G	24607452	C	G	24607452	2	3	81	1	0	0	0	0	0	0	0	1	12785	784	28	4		4	PSME1	14	24607452	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08		24607452	82742088	92	15789											
BMP4	652	broad.mit.edu	37	chr14	54418769	54418769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctgcagaagtgtcgcctCgaagtcccgcaggagctcat	9	8	11	13	3	2	1	1	0	1	1	5	3	3	2	2	1	2	3	2	1	2	0			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr14:54418769C>T	ENST00000245451.4	-	3	565	c.172G>A	c.(172-174)Gag>Aag	p.E58K	BMP4_ENST00000559087.1_Missense_Mutation_p.E58K|BMP4_ENST00000558984.1_Missense_Mutation_p.E58K|BMP4_ENST00000417573.1_Missense_Mutation_p.E58K	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	58					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AGTGTCGCCTCGAAGTCCCGC	0.607													29	81					0	0	0	0	T	54418769	C	T	54418769	3	4	81	1	0	0	0	0	1	0	0	0	1467	893	31	1	1062	1	BMP4	14	54418769	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	29811317	54418769	52930771	93	15790											
PRKCH	5583	broad.mit.edu	37	chr14	61857999	61857999	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataacccttaccgggagtttCactgaaggtaagaatgagtt	13	11	10	7	1	1	3	1	2	0	1	1	4	1	4	2	2	2	3	2	2	5	5			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr14:61857999C>T	ENST00000332981.5	+	2	805	c.420C>T	c.(418-420)ttC>ttT	p.F140F	PRKCH_ENST00000555082.1_5'UTR	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	140					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CCGGGAGTTTCACTGAAGGTA	0.338													28	86					0	0	0	0	T	61857999	C	T	61857999	2	4	81	1	0	0	0	0	0	0	0	1	12593	825	29	2		2	PRKCH	14	61857999	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08	7439230	61857999	45491541	94	15791											
DISP2	85455	broad.mit.edu	37	chr15	40659622	40659622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttccctcaagtacagcCtgctcttcctgcccacccca	6	10	5	20	0	2	0	1	0	1	0	4	0	4	0	7	0	5	2	7	0	2	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:40659622C>A	ENST00000267889.3	+	8	1396	c.1309C>A	c.(1309-1311)Ctg>Atg	p.L437M		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	437					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAAGTACAGCCTGCTCTTCCT	0.582													148	595					8.23634e-74	9.76868e-74	1	0	A	40659622	C	A	40659622	3	1	81	1	0	0	0	0	1	0	0	0	4577	680	24	4	1339	4	DISP2	15	40659622	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08		40659622	61871770	95	15792											
SPINT1	6692	broad.mit.edu	37	chr15	41145416	41145416	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggaaaacacagattggcgCctactgcggggtgacacgga	11	6	15	9	3	0	2	0	1	0	1	0	4	0	4	1	5	3	0	1	5	3	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:41145416C>A	ENST00000344051.4	+	3	804	c.570C>A	c.(568-570)cgC>cgA	p.R190R	SPINT1_ENST00000431806.1_Silent_p.R190R|SPINT1_ENST00000562057.1_Silent_p.R190R			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	190						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CAGATTGGCGCCTACTGCGGG	0.617													46	145					2.24722e-20	2.56586e-20	1	0	A	41145416	C	A	41145416	2	1	81	1	0	0	0	0	0	0	0	1	15158	726	26	4		4	SPINT1	15	41145416	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08	485794	41145416	61385976	96	15793											
CORO2B	10391	broad.mit.edu	37	chr15	69011053	69011053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggggtcatgcccaagcaCgggctggatgtgtcagcctg	8	7	15	11	1	2	0	2	0	0	0	2	1	2	1	2	4	3	2	2	4	1	0	rs3751554	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:69011053C>T	ENST00000543950.1	+	9	1323	c.969C>T	c.(967-969)caC>caT	p.H323H	CORO2B_ENST00000261861.5_Silent_p.H323H|CORO2B_ENST00000540068.1_Silent_p.H323H|CORO2B_ENST00000566799.1_Silent_p.H328H	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	328					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGCCCAAGCACGGGCTGGATG	0.592													7	40					0	0	0	0	T	69011053	C	T	69011053	2	4	81	1	0	0	0	0	0	0	0	1	3787	535	19	1		1	CORO2B	15	69011053	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08	27865637	69011053	33520339	97	15794											
SH2D7	646892	broad.mit.edu	37	chr15	78393518	78393518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgagcccagaccagggtcCcacagagtctcccacttcct	8	7	10	16	0	1	3	0	1	1	2	4	3	3	3	5	2	1	0	5	2	0	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:78393518C>T	ENST00000328828.5	+	5	923	c.923C>T	c.(922-924)cCc>cTc	p.P308L	SH2D7_ENST00000409568.2_Missense_Mutation_p.P172L	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	308										endometrium(2)|kidney(2)|lung(3)	7						GACCAGGGTCCCACAGAGTCT	0.617													8	26					0	0	0	0	T	78393518	C	T	78393518	3	4	81	1	0	0	0	0	1	0	0	0	14326	623	22	4	941	4	SH2D7	15	78393518	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	9382465	78393518	24137874	98	15795											
KIF7	374654	broad.mit.edu	37	chr15	90176168	90176168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagctcctccagcgcccgCcgctgctgtagcaccttctc	4	8	8	21	3	1	0	0	0	1	0	4	0	3	0	6	0	4	5	6	0	1	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:90176168C>T	ENST00000394412.3	-	14	2854	c.2778G>A	c.(2776-2778)cgG>cgA	p.R926R		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	926					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCAGCGCCCGCCGCTGCTGTA	0.622													17	19					0	0	0	0	T	90176168	C	T	90176168	2	4	81	1	0	0	0	0	0	0	0	1	8360	726	26	4		4	KIF7	15	90176168	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08	11782650	90176168	12355224	99	15796											
ZNF710	374655	broad.mit.edu	37	chr15	90611606	90611606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtctgcgtcgagtgcGgcctggacttctccaccctg	4	10	12	15	3	2	0	0	0	2	0	4	2	2	1	4	2	2	0	4	2	0	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:90611606G>A	ENST00000268154.4	+	2	1488	c.1237G>A	c.(1237-1239)Ggc>Agc	p.G413S		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CGTCGAGTGCGGCCTGGACTT	0.652													17	66					0	0	0	0	A	90611606	G	A	90611606	3	1	81	1	0	0	0	0	1	0	0	0	18210	1116	39	1	1239	1	ZNF710	15	90611606	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	435438	90611606	11919786	100	15797											
LRRK1	79705	broad.mit.edu	37	chr15	101588744	101588744	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaggaacaggaaagtcAccatttacagttttacagga	17	8	9	7	0	1	0	1	0	0	0	1	3	1	3	1	3	4	2	1	3	5	4			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:101588744A>T	ENST00000284395.5	+	23	3572	c.3172A>T	c.(3172-3174)Acc>Tcc	p.T1058S	LRRK1_ENST00000388948.3_Missense_Mutation_p.T1061S|RP11-505E24.3_ENST00000558979.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1061					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGGAAAGTCACCATTTACAG	0.433													42	135					0	0	0	0	T	101588744	A	T	101588744	3	4	81	1	0	0	0	0	1	0	0	0	9096	159	6	5	3263	5	LRRK1	15	101588744	Missense_Mutation	SNP	A	TCGA-CN-5361-01A-01D-1434-08	10977138	101588744	942648	101	15798											
VWA3A	146177	broad.mit.edu	37	chr16	22144336	22144336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacaccccctgcccgctatgCcagtcacactgacacagccg	9	5	7	20	2	1	1	1	1	0	0	1	1	1	1	5	0	3	1	5	0	1	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr16:22144336C>T	ENST00000389398.5	+	20	2084	c.1988C>T	c.(1987-1989)gCc>gTc	p.A663V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	663	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCCCGCTATGCCAGTCACACT	0.607													3	33					0	0	0	0	T	22144336	C	T	22144336	3	4	81	1	0	0	0	0	1	0	0	0	17336	739	26	4	2066	4	VWA3A	16	22144336	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08		22144336	68210417	102	15799											
PLK1	5347	broad.mit.edu	37	chr16	23700659	23700659	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtacatagagcgtgaCggcactgagtcctacctcac	10	8	10	13	2	1	3	1	2	0	1	2	3	2	3	2	1	4	3	2	1	3	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr16:23700659C>T	ENST00000300093.4	+	8	1482	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	457	POLO box 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TAGAGCGTGACGGCACTGAGT	0.557													43	81					0	0	0	0	T	23700659	C	T	23700659	2	4	81	1	0	0	0	0	0	0	0	1	12166	535	19	1		1	PLK1	16	23700659	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08	1556323	23700659	66654094	103	15800											
CDH13	1012	broad.mit.edu	37	chr16	83065808	83065808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attgtcggggggaaagacatCcagggctccttgcaggtaac	10	8	14	9	1	0	1	0	0	0	1	3	2	2	2	2	5	2	3	2	5	2	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr16:83065808C>G	ENST00000566620.1	+	3	641	c.351C>G	c.(349-351)atC>atG	p.I117M	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.I117M|CDH13_ENST00000446376.2_Missense_Mutation_p.I117M|CDH13_ENST00000565636.1_Missense_Mutation_p.I117M|CDH13_ENST00000268613.10_Missense_Mutation_p.I164M|CDH13_ENST00000431540.3_Missense_Mutation_p.I117M	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	117					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GGAAAGACATCCAGGGCTCCT	0.468													10	24					0	0	0	0	G	83065808	C	G	83065808	3	3	81	1	0	0	0	0	1	0	0	0	3128	845	30	2	361	2	CDH13	16	83065808	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	59365149	83065808	7288945	104	15801											
ZC3H18	124245	broad.mit.edu	37	chr16	88691022	88691022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcacagagagaagtcagtGaagaagccggccccgcctcc	11	5	11	14	2	2	4	2	1	1	3	4	5	3	4	5	1	1	0	5	1	3	0			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr16:88691022G>A	ENST00000301011.5	+	12	2111	c.1911G>A	c.(1909-1911)gtG>gtA	p.V637V	ZC3H18_ENST00000452588.2_Silent_p.V661V	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	637	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGAAGTCAGTGAAGAAGCCGG	0.667													13	37					0	0	0	0	A	88691022	G	A	88691022	2	1	81	1	0	0	0	0	0	0	0	1	17663	1277	45	2		2	ZC3H18	16	88691022	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	5625214	88691022	1663731	105	15802											
MYH3	4621	broad.mit.edu	37	chr17	10543464	10543464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatctctttctcagtctctGcactcttgaggaggggcttg	5	14	10	12	0	4	1	1	1	4	0	7	2	4	2	1	3	1	2	1	3	0	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:10543464G>A	ENST00000583535.1	-	22	2618	c.2531C>T	c.(2530-2532)gCa>gTa	p.A844V	MYH3_ENST00000226209.7_Missense_Mutation_p.A844V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	844					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCAGTCTCTGCACTCTTGAG	0.468													50	86					0	0	0	0	A	10543464	G	A	10543464	3	1	81	1	0	0	0	0	1	0	0	0	10106	1319	46	4	3371	4	MYH3	17	10543464	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08		10543464	70651746	106	15803											
SREBF1	6720	broad.mit.edu	37	chr17	17716991	17716991	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcctgctgctggtgccCtgggctgctggggccggggc	0	8	21	12	1	0	0	0	0	0	0	0	0	0	0	3	8	4	4	3	8	0	0			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:17716991C>T	ENST00000355815.4	-	18	3253	c.3084G>A	c.(3082-3084)caG>caA	p.Q1028Q	SREBF1_ENST00000338854.5_Silent_p.Q998Q|SREBF1_ENST00000395757.1_Silent_p.Q744Q|SREBF1_ENST00000261646.5_Silent_p.Q998Q	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	998					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGCTGGTGCCCTGGGCTGCTG	0.716													2	2					0	0	0	0	T	17716991	C	T	17716991	2	4	81	1	0	0	0	0	0	0	0	1	15231	680	24	4		4	SREBF1	17	17716991	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08	7173527	17716991	63478219	107	15804											
LIG3	3980	broad.mit.edu	37	chr17	33331461	33331462	+	Frame_Shift_Ins	INS	-	-	GC																															gacaagaaccctgcggcccaINSgcaggtctccccagagtgga																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:33331461_33331462insGC	ENST00000378526.4	+	20	3099_3100	c.2966_2967insGC	c.(2965-2967)ccafs	p.P989fs		NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	989	BRCT.				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CCTGCGGCCCAGCAGGTCTCCC	0.569								Other BER factors					32	203	---	---	---	---					GC	33331462	-	GC	33331461	7	5	81	1	0	1	1	0	0	0	0	0	8836	188	7	0	3098	0	LIG3	17	33331461	Frame_Shift_Ins	INS	-	TCGA-CN-5361-01A-01D-1434-08	15614470	33331461	47863749	108	15805											
PTRH2	51651	broad.mit.edu	37	chr17	57775075	57775076	+	Frame_Shift_Ins	INS	-	-	A																															ttgtaggctgaaacagcagcINSatgagagcactgggcagcca																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:57775075_57775076insA	ENST00000470557.2	-	1	3710_3711	c.264_265insT	c.(262-267)cactgcfs	p.C89fs	PTRH2_ENST00000393038.2_Frame_Shift_Ins_p.C89fs|PTRH2_ENST00000537860.1_Frame_Shift_Ins_p.C89fs|PTRH2_ENST00000409433.2_Frame_Shift_Ins_p.C90fs			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	89					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAAACAGCAGCATGAGAGCACT	0.475													68	243	---	---	---	---					A	57775076	-	A	57775075	7	5	81	1	0	1	1	0	0	0	0	0	12899	710	25	0	278	0	PTRH2	17	57775075	Frame_Shift_Ins	INS	-	TCGA-CN-5361-01A-01D-1434-08	24443614	57775075	23420135	109	15806											
AATK	9625	broad.mit.edu	37	chr17	79095073	79095073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagagagcggaaggctGgcaccacatccggcctcctg	8	6	13	14	2	1	1	0	0	1	1	3	3	3	2	4	4	2	3	4	4	1	0			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:79095073G>A	ENST00000326724.4	-	11	2687	c.2663C>T	c.(2662-2664)cCa>cTa	p.P888L	AATK_ENST00000417379.1_Missense_Mutation_p.P785L	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	888						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCGGAAGGCTGGCACCACATC	0.657													4	28					0	0	0	0	A	79095073	G	A	79095073	3	1	81	1	0	0	0	0	1	0	0	0	26	1348	47	4	1477	4	AATK	17	79095073	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	21319998	79095073	2100137	110	15807											
BRD4	23476	broad.mit.edu	37	chr19	15350543	15350543	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcagcgaggggctgaaGggctcgctgcggatgatggg	6	5	21	9	4	0	2	0	2	0	0	1	4	0	3	1	6	2	4	1	6	1	0			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:15350543G>A	ENST00000263377.2	-	16	3593	c.3372C>T	c.(3370-3372)ccC>ccT	p.P1124P		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1124					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGGGCTGAAGGGCTCGCTGC	0.692			T	C15orf55	lethal midline carcinoma of young people								29	31					0	0	0	0	A	15350543	G	A	15350543	2	1	81	1	0	0	0	0	0	0	0	1	1512	987	35	4		4	BRD4	19	15350543	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08		15350543	43778440	111	15808											
FCGBP	8857	broad.mit.edu	37	chr19	40367904	40367904	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatagtggctgttttctggGcaggtgatctctgtgggcag	5	14	15	7	0	3	1	1	1	2	0	4	1	3	1	0	4	0	4	0	4	1	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:40367904G>T	ENST00000221347.6	-	29	13063	c.13056C>A	c.(13054-13056)tgC>tgA	p.C4352*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4352	TIL 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGTTTTCTGGGCAGGTGATCT	0.617													45	167					1.32136e-16	1.46498e-16	1	0	T	40367904	G	T	40367904	4	4	81	1	0	0	0	0	0	1	0	0	5823	1195	42	4	3193	4	FCGBP	19	40367904	Nonsense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	25017361	40367904	18761079	112	15809											
CEACAM4	1089	broad.mit.edu	37	chr19	42128134	42128134	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacaggaaggcctgggacGttgttttctgcagaaagggg	9	8	15	9	1	1	1	0	0	1	1	1	3	1	3	2	5	1	3	2	5	2	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:42128134G>A	ENST00000221954.2	-	3	542	c.432C>T	c.(430-432)aaC>aaT	p.N144N	CEACAM4_ENST00000600925.1_Silent_p.N144N	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	144						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GGCCTGGGACGTTGTTTTCTG	0.602													37	74					0	0	0	0	A	42128134	G	A	42128134	2	1	81	1	0	0	0	0	0	0	0	1	3223	1136	40	1		1	CEACAM4	19	42128134	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	1760230	42128134	17000849	113	15810											
ARHGAP35	2909	broad.mit.edu	37	chr19	47424000	47424000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtccacgctgggccggcggGataatcatttagtccatctc	8	10	11	12	3	2	0	1	0	1	0	5	1	4	1	3	3	0	1	3	3	2	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:47424000G>A	ENST00000404338.3	+	1	2068	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	690					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GGGCCGGCGGGATAATCATTT	0.463													10	30					0	0	0	0	A	47424000	G	A	47424000	3	1	81	1	0	0	0	0	1	0	0	0	6845	1174	41	2	2070	2	ARHGAP35	19	47424000	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	5295866	47424000	11704983	114	15811											
CLEC11A	6320	broad.mit.edu	37	chr19	51227677	51227677	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccgcagtgggccgcctGgccggcctggacgcaggcct	3	6	16	16	4	0	0	0	0	0	0	1	1	1	1	6	5	0	2	6	5	0	0			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:51227677G>C	ENST00000250340.4	+	3	542	c.345G>C	c.(343-345)ctG>ctC	p.L115L	CLEC11A_ENST00000599973.1_Silent_p.L115L	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	115					positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGGCCGCCTGGCCGGCCTGG	0.701											OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	24					0	0	0	0	C	51227677	G	C	51227677	2	2	81	1	0	0	0	0	0	0	0	1	3526	1335	47	4		4	CLEC11A	19	51227677	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	3803677	51227677	7901306	115	15812											
TMC4	147798	broad.mit.edu	37	chr19	54664094	54664094	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcgcgccgtgccaggaaGactttattctgcgcctcctg	7	9	11	14	4	1	1	0	0	1	1	2	2	2	2	4	1	3	0	4	1	2	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:54664094G>C	ENST00000376591.4	-	15	2219	c.2088C>G	c.(2086-2088)gtC>gtG	p.V696V	TMC4_ENST00000301187.4_Silent_p.V690V|TMC4_ENST00000416963.1_Silent_p.V278V	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	696						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTGCCAGGAAGACTTTATTCT	0.632													42	176					0	0	0	0	C	54664094	G	C	54664094	2	2	81	1	0	0	0	0	0	0	0	1	16081	929	33	2		2	TMC4	19	54664094	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	3436417	54664094	4464889	116	15813											
SYT5	6861	broad.mit.edu	37	chr19	55686277	55686277	+	Missense_Mutation	SNP	T	T	C																															tcctcctacgtccatcttctTcaggtttttagcctccagga																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:55686277T>C	ENST00000354308.3	-	7	1168	c.799A>G	c.(799-801)Aag>Gag	p.K267E	SYT5_ENST00000537500.1_Missense_Mutation_p.K267E|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.K263E	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	267	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCCATCTTCTTCAGGTTTTTA	0.582													58	93					0	0	0	0	C	55686277	T	C	55686277	3	2	81	1	0	0	0	0	1	0	0	0	15568	1792	62	5	373	5	SYT5	19	55686277	Missense_Mutation	SNP	T	TCGA-CN-5361-01A-01D-1434-08	1022183	55686277	3442706	117	15814	140	2									
SYT5	6861	broad.mit.edu	37	chr19	55686278	55686278	+	Silent	SNP	C	C	T																															cctcctacgtccatcttcttCaggtttttagcctccaggac																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:55686278C>T	ENST00000354308.3	-	7	1167	c.798G>A	c.(796-798)ctG>ctA	p.L266L	SYT5_ENST00000537500.1_Silent_p.L266L|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Silent_p.L262L	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	266	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCATCTTCTTCAGGTTTTTAG	0.577													56	93					0	0	0	0	T	55686278	C	T	55686278	2	4	81	1	0	0	0	0	0	0	0	1	15568	813	29	2		2	SYT5	19	55686278	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08	1	55686278	3442705	118	15815	140	2									
KIAA1755	85449	broad.mit.edu	37	chr20	36850904	36850904	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcatgctgcagcctggccagGgtggctccaccttcccgctg	4	9	12	16	1	1	0	1	0	0	0	3	0	3	0	5	3	3	4	5	3	0	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr20:36850904G>T	ENST00000279024.4	-	10	2635	c.2364C>A	c.(2362-2364)acC>acA	p.T788T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	788										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCCTGGCCAGGGTGGCTCCAC	0.637											OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	95					2.75727e-19	3.12491e-19	1	0	T	36850904	G	T	36850904	2	4	81	1	0	0	0	0	0	0	0	1	8308	1219	43	4		4	KIAA1755	20	36850904	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08		36850904	26174616	119	15816											
ZMYND8	23613	broad.mit.edu	37	chr20	45867756	45867756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggccgtgacggtgaccGtggaggacgtgctggtggtg	4	7	21	9	5	0	2	0	2	0	0	0	4	0	4	3	7	1	1	3	7	0	0			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr20:45867756G>A	ENST00000311275.7	-	15	2604	c.2351C>T	c.(2350-2352)aCg>aTg	p.T784M	ZMYND8_ENST00000540497.1_Missense_Mutation_p.T732M|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Missense_Mutation_p.T811M|ZMYND8_ENST00000396281.4_Missense_Mutation_p.T784M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.T804M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.T779M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.T804M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.T721M|ZMYND8_ENST00000352431.2_Missense_Mutation_p.T804M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.T784M|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000355972.4_Missense_Mutation_p.T784M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.T779M			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	784							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GACGGTGACCGTGGAGGACGT	0.692													36	93					0	0	0	0	A	45867756	G	A	45867756	3	1	81	1	0	0	0	0	1	0	0	0	17806	1145	40	1	1191	1	ZMYND8	20	45867756	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	9016852	45867756	17157764	120	15817											
STAU1	6780	broad.mit.edu	37	chr20	47752436	47752436	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacttatttcagatttattGagattttcttcttcggattc	8	21	6	6	1	3	3	1	2	2	2	5	5	3	4	0	1	0	0	0	1	2	10			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr20:47752436G>C	ENST00000371828.3	-	6	787	c.300C>G	c.(298-300)ctC>ctG	p.L100L	STAU1_ENST00000360426.4_Silent_p.L100L|STAU1_ENST00000371856.2_Silent_p.L181L|STAU1_ENST00000371792.1_Silent_p.L100L|STAU1_ENST00000371802.1_Silent_p.L100L|STAU1_ENST00000347458.5_Silent_p.L100L|STAU1_ENST00000340954.7_Silent_p.L100L	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	181	DRBM 1.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CAGATTTATTGAGATTTTCTT	0.343													12	54					0	0	0	0	C	47752436	G	C	47752436	2	2	81	1	0	0	0	0	0	0	0	1	15362	1277	45	2		2	STAU1	20	47752436	Silent	SNP	G	TCGA-CN-5361-01A-01D-1434-08	1884680	47752436	15273084	121	15818											
CYP24A1	1591	broad.mit.edu	37	chr20	52779266	52779266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacccttaccgtttccaccGcagccagctggagctctgtg	6	9	9	17	2	1	0	0	0	1	0	2	1	2	1	6	1	4	4	6	1	1	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr20:52779266G>T	ENST00000216862.3	-	7	1373	c.980C>A	c.(979-981)gCg>gAg	p.A327E	CYP24A1_ENST00000395954.3_Missense_Mutation_p.A185E|CYP24A1_ENST00000395955.3_Missense_Mutation_p.A327E	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	327					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CGTTTCCACCGCAGCCAGCTG	0.418													26	64					3.73148e-12	4.07797e-12	1	0	T	52779266	G	T	52779266	3	4	81	1	0	0	0	0	1	0	0	0	4186	1087	38	3	584	3	CYP24A1	20	52779266	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	5026830	52779266	10246254	122	15819											
SLC2A4RG	56731	broad.mit.edu	37	chr20	62372799	62372801	+	In_Frame_Del	DEL	CTT	CTT	-																															gcctgtccaccagccctctcCttctgggggccccggttgca																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr20:62372799_62372801delCTT	ENST00000266077.2	+	3	410_412	c.358_360delCTT	c.(358-360)del	p.L121del	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	121				SPLLL -> KPSPS (in Ref. 1; AAF97516).		cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L120F(1)		NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CAGCCCTCTCCTTCTGGGGGCCC	0.65													9	86	---	---	---	---					-	62372801	CTT	-	62372799	7	5	81	1	0	1	0	1	0	0	0	0	14635	681	24	0	368	0	SLC2A4RG	20	62372799	In_Frame_Del	DEL	CTT	TCGA-CN-5361-01A-01D-1434-08	9593533	62372799	652721	123	15820											
CXADR	1525	broad.mit.edu	37	chr21	18937987	18937987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgatgattccagcacagAgcaaggatgggtctatagta	12	10	12	7	0	1	3	0	2	1	1	2	4	2	4	1	2	2	3	1	2	4	4			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr21:18937987A>G	ENST00000284878.7	+	7	1823	c.1075A>G	c.(1075-1077)Agc>Ggc	p.S359G	CXADR_ENST00000306618.10_Missense_Mutation_p.S318G|CXADR_ENST00000400166.1_3'UTR|CXADR_ENST00000400169.1_Intron	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	359					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TCCAGCACAGAGCAAGGATGG	0.458													28	71					0	0	0	0	G	18937987	A	G	18937987	3	3	81	1	0	0	0	0	1	0	0	0	4108	304	11	5	1101	5	CXADR	21	18937987	Missense_Mutation	SNP	A	TCGA-CN-5361-01A-01D-1434-08		18937987	29191908	124	15821											
DGCR2	9993	broad.mit.edu	37	chr22	19050747	19050747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcccagcgaccttccaagGagcggttccggccagtgata	8	7	11	15	3	0	1	0	1	0	0	3	3	3	2	6	3	2	1	6	3	2	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:19050747G>A	ENST00000545799.1	-	5	784	c.584C>T	c.(583-585)tCc>tTc	p.S195F	DGCR2_ENST00000263196.7_Missense_Mutation_p.S198F|DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.S157F			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	198	C-type lectin.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					ACCTTCCAAGGAGCGGTTCCG	0.582													10	42					0	0	0	0	A	19050747	G	A	19050747	3	1	81	1	0	0	0	0	1	0	0	0	4498	1174	41	2	1083	2	DGCR2	22	19050747	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08		19050747	32253819	125	15822											
SULT4A1	25830	broad.mit.edu	37	chr22	44234792	44234792	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaattcttgaaaggtgcctcGgtagctcatggtccgcagag	9	10	13	9	2	2	2	1	1	1	1	4	3	3	2	2	3	2	3	2	3	3	3			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:44234792G>A	ENST00000330884.4	-	4	583	c.463C>T	c.(463-465)Cga>Tga	p.R155*	SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Nonsense_Mutation_p.R155*	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	155					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		AAGGTGCCTCGGTAGCTCATG	0.537													20	69					0	0	0	0	A	44234792	G	A	44234792	4	1	81	1	0	0	0	0	0	1	0	0	15473	1124	39	1	407	1	SULT4A1	22	44234792	Nonsense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	25184045	44234792	7069774	126	15823											
SCO2	9997	broad.mit.edu	37	chr22	50962708	50962708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggccctgcccacctgtctCtgcagggccctgccttgaca	4	9	10	18	0	1	1	0	1	1	0	2	1	1	1	5	2	3	1	5	2	0	1			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:50962708C>T	ENST00000543927.1	-	2	339	c.133G>A	c.(133-135)Gag>Aag	p.E45K	SCO2_ENST00000252785.3_Missense_Mutation_p.E45K|SCO2_ENST00000395693.3_Missense_Mutation_p.E45K|SCO2_ENST00000535425.1_Missense_Mutation_p.E45K	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	45					cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACCTGTCTCTGCAGGGCCC	0.692													29	63					0	0	0	0	T	50962708	C	T	50962708	3	4	81	1	0	0	0	0	1	0	0	0	14019	922	32	2	671	2	SCO2	22	50962708	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	6727916	50962708	341858	127	15824											
SCO2	9997	broad.mit.edu	37	chr22	50962761	50962761	+	Missense_Mutation	SNP	C	C	T																															tcagatgcagggcctggcctCccagggtcccagggaggacc																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:50962761C>T	ENST00000543927.1	-	2	286	c.80G>A	c.(79-81)gGa>gAa	p.G27E	SCO2_ENST00000252785.3_Missense_Mutation_p.G27E|SCO2_ENST00000395693.3_Missense_Mutation_p.G27E|SCO2_ENST00000535425.1_Missense_Mutation_p.G27E	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	27					cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCTGGCCTCCCAGGGTCCC	0.662													10	60					0	0	0	0	T	50962761	C	T	50962761	3	4	81	1	0	0	0	0	1	0	0	0	14019	855	30	2	724	2	SCO2	22	50962761	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08	53	50962761	341805	128	15825	141	2									
SCO2	9997	broad.mit.edu	37	chr22	50962769	50962769	+	Silent	SNP	C	C	T																															agggcctggcctcccagggtCccagggaggacccgaggctt																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:50962769C>T	ENST00000543927.1	-	2	278	c.72G>A	c.(70-72)ggG>ggA	p.G24G	SCO2_ENST00000252785.3_Silent_p.G24G|SCO2_ENST00000395693.3_Silent_p.G24G|SCO2_ENST00000535425.1_Silent_p.G24G	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	24					cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCCCAGGGTCCCAGGGAGGA	0.652													9	63					0	0	0	0	T	50962769	C	T	50962769	2	4	81	1	0	0	0	0	0	0	0	1	14019	842	30	2		2	SCO2	22	50962769	Silent	SNP	C	TCGA-CN-5361-01A-01D-1434-08	8	50962769	341797	129	15826	141	2									
MAGEB3	4114	broad.mit.edu	37	chrX	30254048	30254048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgactacagccatcatgcctCggggtcagaagagtacgctc	10	8	11	12	2	2	3	2	1	0	2	4	3	2	3	2	2	4	2	2	2	3	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chrX:30254048C>T	ENST00000361644.2	+	5	744	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	MAGEB3_ENST00000378986.1_Missense_Mutation_p.R3W	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	3										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CATCATGCCTCGGGGTCAGAA	0.562													24	23					0	0	0	0	T	30254048	C	T	30254048	3	4	81	1	0	0	0	0	1	0	0	0	9246	875	31	1	9	1	MAGEB3	23	30254048	Missense_Mutation	SNP	C	TCGA-CN-5361-01A-01D-1434-08		30254048	125016512	130	15827											
MED14	9282	broad.mit.edu	37	chrX	40571488	40571488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatcagcaaagagcctaGactgcaccagttgatggatg	12	9	10	10	0	2	3	2	1	1	2	3	4	2	4	2	1	3	3	2	1	2	2			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chrX:40571488G>T	ENST00000324817.1	-	7	957	c.839C>A	c.(838-840)tCt>tAt	p.S280Y		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	280	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGAGCCTAGACTGCACCAG	0.408													115	104					3.62976e-74	4.33869e-74	1	0	T	40571488	G	T	40571488	3	4	81	1	0	0	0	0	1	0	0	0	9501	942	33	2	3625	2	MED14	23	40571488	Missense_Mutation	SNP	G	TCGA-CN-5361-01A-01D-1434-08	10317440	40571488	114699072	131	15828											
RAB9B	51209	broad.mit.edu	37	chrX	103080242	103080242	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccactgtcacattagtaTcatctttggcactagtttct	9	15	7	10	0	4	0	2	0	2	0	4	0	4	0	1	2	0	3	1	2	3	5			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chrX:103080242T>C	ENST00000243298.2	-	3	757	c.473A>G	c.(472-474)gAt>gGt	p.D158G		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	158					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						CACATTAGTATCATCTTTGGC	0.473													129	95					0	0	0	0	C	103080242	T	C	103080242	3	2	81	1	0	0	0	0	1	0	0	0	13041	1435	50	5	136	5	RAB9B	23	103080242	Missense_Mutation	SNP	T	TCGA-CN-5361-01A-01D-1434-08	62508754	103080242	52190318	132	15829											
FLNA	2316	broad.mit.edu	37	chrX	153599568	153599569	+	Frame_Shift_Ins	INS	-	-	CG																															tcgacgccgccgcccggagcINScgcgcctgctgcgctctggc																										TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chrX:153599568_153599569insCG	ENST00000422373.1	-	2	293_294	c.45_46insCG	c.(43-48)gcctccfs	p.S16fs	FLNA_ENST00000344736.4_Frame_Shift_Ins_p.S16fs|FLNA_ENST00000369850.3_Frame_Shift_Ins_p.S16fs|FLNA_ENST00000360319.4_Frame_Shift_Ins_p.S16fs	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	16	Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGCCCGGAGCCGCGCCTGCTG	0.718													8	8	---	---	---	---					CG	153599569	-	CG	153599568	7	5	81	1	0	1	1	0	0	0	0	0	5978	739	26	0	8085	0	FLNA	23	153599568	Frame_Shift_Ins	INS	-	TCGA-CN-5361-01A-01D-1434-08	50519326	153599568	1670992	133	15830											
ACTRT2	140625	broad.mit.edu	37	chr1	2938694	2938694	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgctggctctctacgcCtctgcctgtgtcacgggcct	2	11	13	15	3	3	0	1	0	2	0	4	0	3	0	3	3	3	2	3	3	1	1	rs17845890		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:2938694C>T	ENST00000378404.2	+	1	649	c.444C>T	c.(442-444)gcC>gcT	p.A148A		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	148						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CTCTCTACGCCTCTGCCTGTG	0.622													20	87					0	0	0	0	T	2938694	C	T	2938694	2	4	82	1	0	0	0	0	0	0	0	1	219	668	24	4		4	ACTRT2	1	2938694	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08		2938694	246311927	1	15831											
AJAP1	55966	broad.mit.edu	37	chr1	4715487	4715487	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctccccgaaacgtgaccaTgtggattcaacagcttttag	10	10	9	12	3	1	1	1	1	0	0	2	3	2	2	3	1	3	2	3	1	3	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:4715487T>C	ENST00000378191.4	+	1	383	c.2T>C	c.(1-3)aTg>aCg	p.M1T	AJAP1_ENST00000378190.3_Start_Codon_SNP_p.M1T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	1					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		AACGTGACCATGTGGATTCAA	0.731													20	69					0	0	0	0	C	4715487	T	C	4715487	1	2	82	1	0	0	0	0	0	0	0	0	438	1464	51	5		5	AJAP1	1	4715487	Translation_Start_Site	SNP	T	TCGA-CN-5363-01A-01D-1434-08	1776793	4715487	244535134	2	15832											
CROCC	9696	broad.mit.edu	37	chr1	17263291	17263291	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagctggaggagcagctgcgGgacaaggtgctccgcgagaa	10	4	17	10	3	0	1	0	0	0	1	1	5	1	4	1	4	5	4	1	4	2	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:17263291G>A	ENST00000375541.5	+	9	1185	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	372			R -> Q (in dbSNP:rs57442576).		cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCAGCTGCGGGACAAGGTGC	0.677													12	54					0	0	0	0	A	17263291	G	A	17263291	2	1	82	1	0	0	0	0	0	0	0	1	3923	1219	43	4		4	CROCC	1	17263291	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08	12547804	17263291	231987330	3	15833											
EPHA10	284656	broad.mit.edu	37	chr1	38227191	38227191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggggctgccaggctcccCttccgagtgcgccacgcacg	4	6	15	16	4	0	0	0	0	0	0	2	1	2	0	5	4	2	3	5	4	0	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:38227191C>T	ENST00000373048.4	-	3	735	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	EPHA10_ENST00000427468.2_Missense_Mutation_p.G246R|EPHA10_ENST00000319637.6_Missense_Mutation_p.G246R	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	246						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)				CCAGGCTCCCCTTCCGAGTGC	0.731													25	27					0	0	0	0	T	38227191	C	T	38227191	3	4	82	1	0	0	0	0	1	0	0	0	5204	681	24	4	2388	4	EPHA10	1	38227191	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	20963900	38227191	211023430	4	15834											
RLF	6018	broad.mit.edu	37	chr1	40702667	40702667	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactacttaaccataaacaaAagcatgacgatctgcgttac	17	9	5	10	2	1	1	0	1	1	0	1	2	1	1	1	0	7	2	1	0	8	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:40702667A>G	ENST00000372771.4	+	8	2320	c.2293A>G	c.(2293-2295)Aag>Gag	p.K765E		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	765					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CCATAAACAAAAGCATGACGA	0.393													46	194					0	0	0	0	G	40702667	A	G	40702667	3	3	82	1	0	0	0	0	1	0	0	0	13474	15	1	5	2323	5	RLF	1	40702667	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	2475476	40702667	208547954	5	15835											
C1orf123	54987	broad.mit.edu	37	chr1	53683848	53683848	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcagcaaacttacattgTaaggcttgatggtgctgctt	11	12	10	8	0	0	1	0	1	0	0	0	1	0	1	0	2	6	6	0	2	3	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:53683848T>A	ENST00000294360.4	-	5	298	c.257A>T	c.(256-258)tAc>tTc	p.Y86F	C1orf123_ENST00000470385.1_5'UTR	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	86										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						ACTTACATTGTAAGGCTTGAT	0.488													6	32					0	0	0	0	A	53683848	T	A	53683848	3	1	82	1	0	0	0	0	1	0	0	0	2010	1638	57	5	241	5	C1orf123	1	53683848	Missense_Mutation	SNP	T	TCGA-CN-5363-01A-01D-1434-08	12981181	53683848	195566773	6	15836											
LRRC7	57554	broad.mit.edu	37	chr1	70555457	70555457	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttggatttagtatcagTggtggaattagtggacaagg	10	12	15	4	0	1	0	1	0	0	0	1	3	1	3	1	6	0	1	1	6	5	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:70555457T>C	ENST00000310961.5	+	25	4678	c.4260T>C	c.(4258-4260)agT>agC	p.S1420S	LRRC7_ENST00000035383.5_Silent_p.S1462S|LRRC7_ENST00000415775.2_Silent_p.S746S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1462						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTAGTATCAGTGGTGGAATTA	0.299													26	139					0	0	0	0	C	70555457	T	C	70555457	2	2	82	1	0	0	0	0	0	0	0	1	9084	1693	59	5		5	LRRC7	1	70555457	Silent	SNP	T	TCGA-CN-5363-01A-01D-1434-08	16871609	70555457	178695164	7	15837											
CRYZ	1429	broad.mit.edu	37	chr1	75172657	75172657	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctcgtgggtttatttcaaTagtacctctgctgccaacaa	9	14	8	10	1	3	0	1	0	2	0	4	0	3	0	2	1	4	3	2	1	6	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:75172657T>A	ENST00000417775.1	-	9	1258	c.754A>T	c.(754-756)Att>Ttt	p.I252F	CRYZ_ENST00000370872.3_Missense_Mutation_p.I115F|CRYZ_ENST00000492102.1_5'UTR|CRYZ_ENST00000370871.3_Missense_Mutation_p.I218F|CRYZ_ENST00000340866.5_Missense_Mutation_p.I252F	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	252					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	TTTATTTCAATAGTACCTCTG	0.353													55	264					0	0	0	0	A	75172657	T	A	75172657	3	1	82	1	0	0	0	0	1	0	0	0	3952	1406	49	5	243	5	CRYZ	1	75172657	Missense_Mutation	SNP	T	TCGA-CN-5363-01A-01D-1434-08	4617200	75172657	174077964	8	15838											
RBMXL1	494115	broad.mit.edu	37	chr1	89448494	89448495	+	In_Frame_Ins	INS	-	-	CAC																															ttcttgtctgccaaccctgtINScacaacttgagtagagatca																										TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:89448494_89448495insCAC	ENST00000399794.2	-	3	1730_1731	c.1015_1016insGTG	c.(1015-1017)cag>GTGcag	p.338_339insV	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_In_Frame_Ins_p.338_339insV	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	338	Ser-rich.						nucleotide binding|RNA binding										GCCAACCCTGTCACAACTTGAG	0.505													12	417	---	---	---	---					CAC	89448495	-	CAC	89448494	7	5	82	1	0	1	1	0	0	0	0	0	13235	1667	58	0	160	0	RBMXL1	1	89448494	In_Frame_Ins	INS	-	TCGA-CN-5363-01A-01D-1434-08	14275837	89448494	159802127	9	15839											
CCDC18	343099	broad.mit.edu	37	chr1	93651989	93651989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaacagaatgcttgtttgGtcacacagaatcattcctta	12	12	8	9	0	2	2	2	0	0	2	3	2	3	2	1	2	2	3	1	2	4	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:93651989G>A	ENST00000343253.7	+	4	893	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	CCDC18_ENST00000557479.1_Missense_Mutation_p.V249I|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.V131I			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	131										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGCTTGTTTGGTCACACAGAA	0.343													29	78					0	0	0	0	A	93651989	G	A	93651989	3	1	82	1	0	0	0	0	1	0	0	0	2820	1261	44	4	759	4	CCDC18	1	93651989	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	4203495	93651989	155598632	10	15840											
IGSF3	3321	broad.mit.edu	37	chr1	117208931	117208931	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccagacagctcagcacCgggaaaaagcacttcatgtc	14	5	9	13	1	2	1	2	0	0	1	3	2	2	2	2	1	4	3	2	1	2	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:117208931C>G	ENST00000369486.3	-	2	783	c.18G>C	c.(16-18)ccG>ccC	p.P6P	IGSF3_ENST00000369483.1_Silent_p.P6P|IGSF3_ENST00000318837.6_Silent_p.P6P	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	6						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCTCAGCACCGGGAAAAAGC	0.493													18	107					0	0	0	0	G	117208931	C	G	117208931	2	3	82	1	0	0	0	0	0	0	0	1	7654	639	23	3		3	IGSF3	1	117208931	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	23556942	117208931	132041690	11	15841											
GJA8	2703	broad.mit.edu	37	chr1	147380566	147380566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcttcaagaccctctttGaagtgggcttcatcgtgggc	7	13	10	11	1	5	2	3	1	2	1	6	2	5	2	1	2	0	1	1	2	2	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:147380566G>A	ENST00000240986.4	+	2	537	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	GJA8_ENST00000369235.1_Missense_Mutation_p.E162K	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	162					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GACCCTCTTTGAAGTGGGCTT	0.587													51	180					0	0	0	0	A	147380566	G	A	147380566	3	1	82	1	0	0	0	0	1	0	0	0	6456	1291	45	2	486	2	GJA8	1	147380566	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	30171635	147380566	101870055	12	15842											
LCE1A	353131	broad.mit.edu	37	chr1	152800041	152800041	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactcctaagtgccccccAaagtgtccccctaagtgccc	8	7	6	20	0	0	0	0	0	0	0	2	0	2	0	8	0	2	0	8	0	3	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:152800041A>C	ENST00000335123.2	+	1	93	c.93A>C	c.(91-93)ccA>ccC	p.P31P		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	31	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agtgccccccaaagtgtcccc	0.672													49	134					0	0	0	0	C	152800041	A	C	152800041	2	2	82	1	0	0	0	0	0	0	0	1	8712	117	5	5		5	LCE1A	1	152800041	Silent	SNP	A	TCGA-CN-5363-01A-01D-1434-08	5419475	152800041	96450580	13	15843											
ASH1L	55870	broad.mit.edu	37	chr1	155340386	155340386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcaatcaccatcccactatCcaggttcaggcagtagtggt	10	10	9	12	0	3	0	3	0	0	0	5	0	5	0	3	3	0	3	3	3	3	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:155340386C>A	ENST00000368346.3	-	12	7249	c.6610G>T	c.(6610-6612)Gat>Tat	p.D2204Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2199Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2204	SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATCCCACTATCCAGGTTCAGG	0.418													58	189					8.99859e-20	1.13843e-19	1	0	A	155340386	C	A	155340386	3	1	82	1	0	0	0	0	1	0	0	0	1045	855	30	2	2367	2	ASH1L	1	155340386	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	2540345	155340386	93910235	14	15844											
PAPPA2	60676	broad.mit.edu	37	chr1	176668318	176668318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaccacatgaacatgacGgtcccctgccccacagaagg	11	6	9	15	1	0	3	0	2	0	1	1	3	1	3	5	2	3	1	5	2	3	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:176668318G>A	ENST00000367662.3	+	8	3993	c.2829G>A	c.(2827-2829)acG>acA	p.T943T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	943					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAACATGACGGTCCCCTGCC	0.602													50	152					0	0	0	0	A	176668318	G	A	176668318	2	1	82	1	0	0	0	0	0	0	0	1	11504	1103	39	1		1	PAPPA2	1	176668318	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08	21327932	176668318	72582303	15	15845											
LAMC1	3915	broad.mit.edu	37	chr1	183093839	183093839	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacggccctgtgagactttgCcgcctgtgccagtgcagtga	7	9	13	12	2	0	2	0	2	0	1	0	3	0	2	4	1	4	1	4	1	1	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:183093839C>T	ENST00000258341.4	+	14	2732	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	825	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGACTTTGCCGCCTGTGCC	0.507													4	105					0	0	0	0	T	183093839	C	T	183093839	2	4	82	1	0	0	0	0	0	0	0	1	8667	747	26	4		4	LAMC1	1	183093839	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	6425521	183093839	66156782	16	15846											
PROX1	5629	broad.mit.edu	37	chr1	214178607	214178607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgaagacctacttctccGacgtaaaggtagggactttt	10	12	10	9	2	1	2	0	1	1	1	2	4	1	3	2	2	2	3	2	2	5	6			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:214178607G>A	ENST00000366958.4	+	3	2433	c.1825G>A	c.(1825-1827)Gac>Aac	p.D609N	PROX1_ENST00000261454.4_Missense_Mutation_p.D609N|PROX1_ENST00000435016.1_Missense_Mutation_p.D609N|PROX1_ENST00000498508.2_Missense_Mutation_p.D609N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	609					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTACTTCTCCGACGTAAAGGT	0.378													22	97					0	0	0	0	A	214178607	G	A	214178607	3	1	82	1	0	0	0	0	1	0	0	0	12640	1058	37	1	1831	1	PROX1	1	214178607	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	31084768	214178607	35072014	17	15847											
PTPN14	5784	broad.mit.edu	37	chr1	214557343	214557343	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcacctcctggagagactGatgaaccaccggagagctgt	10	7	12	12	1	1	4	1	2	0	2	2	7	2	5	4	2	2	2	4	2	1	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:214557343G>C	ENST00000366956.5	-	13	2049	c.1855C>G	c.(1855-1857)Cag>Gag	p.Q619E	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	619					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGAGAGACTGATGAACCACC	0.637													24	65					0	0	0	0	C	214557343	G	C	214557343	3	2	82	1	0	0	0	0	1	0	0	0	12863	1299	45	2	1736	2	PTPN14	1	214557343	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	378736	214557343	34693278	18	15848											
MIA3	375056	broad.mit.edu	37	chr1	222803588	222803588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatctgggaatgaacgaaaAtaacatatttgaagaggctg	17	9	11	4	1	1	4	0	2	1	2	1	6	1	5	0	2	2	1	0	2	7	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:222803588A>G	ENST00000344922.5	+	4	3051	c.3026A>G	c.(3025-3027)aAt>aGt	p.N1009S	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.N1009S|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1009					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATGAACGAAAATAACATATTT	0.433													35	140					0	0	0	0	G	222803588	A	G	222803588	3	3	82	1	0	0	0	0	1	0	0	0	9634	101	4	5	3040	5	MIA3	1	222803588	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	8246245	222803588	26447033	19	15849											
TRIM17	51127	broad.mit.edu	37	chr1	228596365	228596365	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagaacccactgcccTccggcgaagagccgaggtag	9	5	13	14	3	0	2	0	0	0	2	1	4	1	2	4	2	5	3	4	2	3	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:228596365T>C	ENST00000366697.2	-	6	1927	c.971A>G	c.(970-972)gAg>gGg	p.E324G	TRIM17_ENST00000295033.3_Missense_Mutation_p.E324G|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.E324G			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	324	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CCCACTGCCCTCCGGCGAAGA	0.637													27	93					0	0	0	0	C	228596365	T	C	228596365	3	2	82	1	0	0	0	0	1	0	0	0	16588	1551	54	5	466	5	TRIM17	1	228596365	Missense_Mutation	SNP	T	TCGA-CN-5363-01A-01D-1434-08	5792777	228596365	20654256	20	15850											
RYR2	6262	broad.mit.edu	37	chr1	237604656	237604656	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgagaaaagaagtagatgGcatgggaacatctgaaataa	18	7	13	3	0	1	4	0	2	1	3	1	6	1	5	0	3	1	2	0	3	7	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:237604656G>C	ENST00000366574.2	+	13	1360	c.1043G>C	c.(1042-1044)gGc>gCc	p.G348A	RYR2_ENST00000360064.6_Missense_Mutation_p.G346A|RYR2_ENST00000542537.1_Missense_Mutation_p.G332A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	348					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGTAGATGGCATGGGAACA	0.398													28	114					0	0	0	0	C	237604656	G	C	237604656	3	2	82	1	0	0	0	0	1	0	0	0	13854	1203	42	4	1093	4	RYR2	1	237604656	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	9008291	237604656	11645965	21	15851											
RYR2	6262	broad.mit.edu	37	chr1	237758918	237758918	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccagcgggctgctcacAttcattgccaatggcaagga	9	8	12	12	1	2	0	2	0	0	0	2	1	2	1	2	3	4	4	2	3	2	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:237758918A>T	ENST00000366574.2	+	34	4874	c.4557A>T	c.(4555-4557)acA>acT	p.T1519T	RYR2_ENST00000360064.6_Silent_p.T1517T|RYR2_ENST00000542537.1_Silent_p.T1503T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1519	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTGCTCACATTCATTGCCA	0.517													10	51					0	0	0	0	T	237758918	A	T	237758918	2	4	82	1	0	0	0	0	0	0	0	1	13854	204	8	5		5	RYR2	1	237758918	Silent	SNP	A	TCGA-CN-5363-01A-01D-1434-08	154262	237758918	11491703	22	15852											
OR2B11	127623	broad.mit.edu	37	chr1	247615247	247615247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaggatgaaggctttaGgggagtcccctaagaagcta	13	7	13	8	0	0	3	0	1	0	2	1	5	1	5	3	4	1	2	3	4	6	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:247615247G>T	ENST00000318749.6	-	1	61	c.38C>A	c.(37-39)cCt>cAt	p.P13H		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAAGGCTTTAGGGGAGTCCCC	0.493													38	124					2.51541e-25	3.33752e-25	1	0	T	247615247	G	T	247615247	3	4	82	1	0	0	0	0	1	0	0	0	11059	1000	35	4	918	4	OR2B11	1	247615247	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	9856329	247615247	1635374	23	15853											
OR2L3	391192	broad.mit.edu	37	chr1	248224038	248224038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttattaggattcttcccaCcatcaagaattggccttttc	9	16	5	11	0	3	1	1	0	2	1	5	2	4	2	3	2	0	0	3	2	4	7			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:248224038C>A	ENST00000359959.3	+	1	55	c.55C>A	c.(55-57)Cca>Aca	p.P19T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTCTTCCCACCATCAAGAAT	0.393													98	436					7.79711e-59	1.08205e-58	1	0	A	248224038	C	A	248224038	3	1	82	1	0	0	0	0	1	0	0	0	11079	507	18	4	57	4	OR2L3	1	248224038	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	608791	248224038	1026583	24	15854											
APOB	338	broad.mit.edu	37	chr2	21245717	21245717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattaccctccactgagcagCttgactggtctctttgggga	8	12	10	11	0	1	2	0	2	1	0	3	3	2	3	2	3	3	2	2	3	2	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:21245717C>A	ENST00000233242.1	-	18	2929	c.2802G>T	c.(2800-2802)aaG>aaT	p.K934N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	934	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACTGAGCAGCTTGACTGGTC	0.478													18	55					6.94344e-10	7.93536e-10	1	0	A	21245717	C	A	21245717	3	1	82	1	0	0	0	0	1	0	0	0	787	796	28	4	10937	4	APOB	2	21245717	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08		21245717	221953656	25	15855											
THADA	63892	broad.mit.edu	37	chr2	43776495	43776495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattcagaatcatctgtaagCggcttgctgactctgaggga	10	11	11	9	1	4	3	2	2	2	1	4	4	4	4	0	2	2	3	0	2	2	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:43776495C>A	ENST00000405006.4	-	20	3311	c.2960G>T	c.(2959-2961)cGc>cTc	p.R987L	THADA_ENST00000415080.2_Missense_Mutation_p.R697L|THADA_ENST00000405975.2_Missense_Mutation_p.R987L|THADA_ENST00000330266.7_Missense_Mutation_p.R697L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	987							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CATCTGTAAGCGGCTTGCTGA	0.383													3	11					0.004672	0.00494468	1	0	A	43776495	C	A	43776495	3	1	82	1	0	0	0	0	1	0	0	0	15934	768	27	3	2977	3	THADA	2	43776495	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	22530778	43776495	199422878	26	15856											
NRXN1	9378	broad.mit.edu	37	chr2	50847323	50847323	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catccactgatattgtcaccTagataacaaagcacagggaa	16	8	7	10	0	1	2	1	1	0	1	2	3	2	3	2	1	2	1	2	1	5	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:50847323T>A	ENST00000404971.1	-	9	2618		c.e9-2		NRXN1_ENST00000402717.3_Splice_Site|NRXN1_ENST00000401669.2_Splice_Site|NRXN1_ENST00000331040.5_Splice_Site|NRXN1_ENST00000406859.3_Splice_Site|NRXN1_ENST00000405472.3_Splice_Site|NRXN1_ENST00000406316.2_Splice_Site	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TATTGTCACCTAGATAACAAA	0.418													3	42					0	0	0	0	A	50847323	T	A	50847323	5	1	82	1	0	0	0	0	0	0	1	0	10736	1536	53	5	3693	5	NRXN1	2	50847323	Splice_Site	SNP	T	TCGA-CN-5363-01A-01D-1434-08	7070828	50847323	192352050	27	15857											
USP34	9736	broad.mit.edu	37	chr2	61508321	61508321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgattgagtctcctccatcCagccctgacagggataactt	9	12	8	12	0	1	3	0	3	1	0	4	4	3	4	4	1	2	0	4	1	1	4	rs4645002		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:61508321C>T	ENST00000398571.2	-	38	5131	c.5055G>A	c.(5053-5055)ctG>ctA	p.L1685L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1685					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTCCTCCATCCAGCCCTGACA	0.403													9	32					0	0	0	0	T	61508321	C	T	61508321	2	4	82	1	0	0	0	0	0	0	0	1	17161	581	21	4		4	USP34	2	61508321	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	10660998	61508321	181691052	28	15858											
AFTPH	54812	broad.mit.edu	37	chr2	64780055	64780055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgactttggagaatttgggGatataaatgctgtttcttgc	10	16	11	4	0	1	2	0	1	1	1	1	4	1	3	0	3	2	2	0	3	4	6			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:64780055G>T	ENST00000422803.1	+	2	1761	c.1447G>T	c.(1447-1449)Gat>Tat	p.D483Y	AFTPH_ENST00000238856.4_Missense_Mutation_p.D483Y|AFTPH_ENST00000409933.1_Missense_Mutation_p.D483Y|AFTPH_ENST00000409183.1_Missense_Mutation_p.D114Y|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000238855.7_Missense_Mutation_p.D483Y			Q6ULP2	AFTIN_HUMAN	aftiphilin	483					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AGAATTTGGGGATATAAATGC	0.368													33	172					3.33393e-15	3.99485e-15	1	0	T	64780055	G	T	64780055	3	4	82	1	0	0	0	0	1	0	0	0	364	1174	41	2	1449	2	AFTPH	2	64780055	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	3271734	64780055	178419318	29	15859											
STAMBP	10617	broad.mit.edu	37	chr2	74089382	74089382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgaccatcacagaccttcGatgagcgtttgagtccaaca	12	9	9	11	2	1	4	1	3	0	1	3	5	2	4	3	0	2	1	3	0	1	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:74089382G>A	ENST00000394070.2	+	10	1774	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q	STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000409707.1_Missense_Mutation_p.R424Q|STAMBP_ENST00000394073.1_Missense_Mutation_p.R424Q|STAMBP_ENST00000339566.3_Missense_Mutation_p.R424Q	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	424					JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	p.R424Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						ACAGACCTTCGATGAGCGTTT	0.423													16	96					0	0	0	0	A	74089382	G	A	74089382	3	1	82	1	0	0	0	0	1	0	0	0	15340	1058	37	1	1305	1	STAMBP	2	74089382	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	9309327	74089382	169109991	30	15860											
REG3G	130120	broad.mit.edu	37	chr2	79254986	79254986	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtagcactgatgtgatgaaTtactttgcatgggagaaaaa	15	11	11	4	0	0	4	0	3	0	1	0	5	0	4	0	1	3	3	0	1	5	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:79254986T>C	ENST00000272324.5	+	5	571	c.387T>C	c.(385-387)aaT>aaC	p.N129N	REG3G_ENST00000393897.2_Silent_p.N129N|REG3G_ENST00000409471.1_Silent_p.N83N	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	129	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGTGATGAATTACTTTGCAT	0.507													34	169					0	0	0	0	C	79254986	T	C	79254986	2	2	82	1	0	0	0	0	0	0	0	1	13295	1490	52	5		5	REG3G	2	79254986	Silent	SNP	T	TCGA-CN-5363-01A-01D-1434-08	5165604	79254986	163944387	31	15861											
VWA3B	200403	broad.mit.edu	37	chr2	98828426	98828426	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacaccctgagtgccctgAaaactgcttttgctgataaa	13	10	7	11	0	0	3	0	3	0	0	0	3	0	3	2	0	5	2	2	0	5	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:98828426A>T	ENST00000477737.1	+	13	1975	c.1771A>T	c.(1771-1773)Aaa>Taa	p.K591*	VWA3B_ENST00000451075.2_Nonsense_Mutation_p.K441*|VWA3B_ENST00000435344.1_Nonsense_Mutation_p.K591*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	591	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGTGCCCTGAAAACTGCTTT	0.443													28	98					0	0	0	0	T	98828426	A	T	98828426	4	4	82	1	0	0	0	0	0	1	0	0	17337	247	9	5	1817	5	VWA3B	2	98828426	Nonsense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	19573440	98828426	144370947	32	15862											
CHST10	9486	broad.mit.edu	37	chr2	101014428	101014428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccactttgggagtctggcaGaaaagaatcttgtgcttgtc	9	12	11	9	0	2	2	0	0	2	2	3	3	2	3	1	2	1	2	1	2	3	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:101014428G>C	ENST00000264249.3	-	5	754	c.369C>G	c.(367-369)ttC>ttG	p.F123L	CHST10_ENST00000542617.1_Missense_Mutation_p.F171L|CHST10_ENST00000409701.1_Missense_Mutation_p.F123L	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	123					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GAGTCTGGCAGAAAAGAATCT	0.493													27	99					0	0	0	0	C	101014428	G	C	101014428	3	2	82	1	0	0	0	0	1	0	0	0	3427	933	33	2	713	2	CHST10	2	101014428	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	2186002	101014428	142184945	33	15863											
MYO7B	4648	broad.mit.edu	37	chr2	128331588	128331589	+	Frame_Shift_Del	DEL	GC	GC	-																															ccccagcggggtgatcgaggGcgcgcgcatcgagcaatttc																										TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:128331588_128331589delGC	ENST00000389524.4	+	7	739_740	c.686_687delGC	c.(685-687)gfs	p.G229fs	MYO7B_ENST00000409816.2_Frame_Shift_Del_p.G229fs|MYO7B_ENST00000428314.1_Frame_Shift_Del_p.G229fs			Q6PIF6	MYO7B_HUMAN	myosin VIIB	229	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GTGATCGAGGGCGCGCGCATCG	0.584													22	213	---	---	---	---					-	128331589	GC	-	128331588	7	5	82	1	0	1	0	1	0	0	0	0	10153	1203	42	0	708	0	MYO7B	2	128331588	Frame_Shift_Del	DEL	GC	TCGA-CN-5363-01A-01D-1434-08	27317160	128331588	114867785	34	15864											
CCDC74B	91409	broad.mit.edu	37	chr2	130900033	130900033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcccgtgtcctgtcagCgtccccagcactgcagggct	4	10	10	17	2	2	0	1	0	1	0	5	0	5	0	4	1	3	3	4	1	0	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:130900033C>A	ENST00000392984.3	-	2	1266	c.523G>T	c.(523-525)Gct>Tct	p.A175S	CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000310463.6_Intron|CCDC74B_ENST00000409128.1_Intron			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	157										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GTCCTGTCAGCGTCCCCAGCA	0.637													3	21					0.00909568	0.00955222	1	0	A	130900033	C	A	130900033	3	1	82	1	0	0	0	0	1	0	0	0	2875	783	27	3		3	CCDC74B	2	130900033	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	2568445	130900033	112299340	35	15865											
NCKAP5	344148	broad.mit.edu	37	chr2	133542068	133542068	+	Frame_Shift_Del	DEL	C	C	-																															ttgtgtgttggtttgaccagCttttgctgctgaggattttg																										TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:133542068delC	ENST00000409261.1	-	14	2689	c.2316delG	c.(2314-2316)aafs	p.K772fs	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.K772fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	772							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTTGACCAGCTTTTGCTGCT	0.423													37	126	---	---	---	---					-	133542068	C	-	133542068	7	5	82	1	0	1	0	1	0	0	0	0	10293	796	28	0	3441	0	NCKAP5	2	133542068	Frame_Shift_Del	DEL	C	TCGA-CN-5363-01A-01D-1434-08	2642035	133542068	109657305	36	15866											
SCN1A	6323	broad.mit.edu	37	chr2	166848385	166848385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctcaaagtcatcctcactCagaggctctgcactttcttc	9	13	5	14	0	6	1	4	0	3	1	9	1	7	1	1	1	1	2	1	1	1	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:166848385C>T	ENST00000423058.2	-	26	5417	c.5400G>A	c.(5398-5400)ctG>ctA	p.L1800L	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.L1800L|SCN1A_ENST00000409050.1_Silent_p.L1772L|SCN1A_ENST00000375405.3_Silent_p.L1789L|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1800						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATCCTCACTCAGAGGCTCTG	0.433													33	154					0	0	0	0	T	166848385	C	T	166848385	2	4	82	1	0	0	0	0	0	0	0	1	14001	813	29	2		2	SCN1A	2	166848385	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	33306317	166848385	76350988	37	15867											
NOSTRIN	115677	broad.mit.edu	37	chr2	169699618	169699618	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaaacacactagagaaCtgctaccaggtaagttatat	16	9	9	7	0	0	1	0	0	0	1	0	3	0	2	1	2	4	3	1	2	8	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:169699618C>T	ENST00000444448.2	+	10	1097	c.621C>T	c.(619-621)aaC>aaT	p.N207N	NOSTRIN_ENST00000445023.2_Silent_p.N129N|NOSTRIN_ENST00000397206.2_Silent_p.N129N|NOSTRIN_ENST00000397209.2_Silent_p.N179N|NOSTRIN_ENST00000317647.7_Silent_p.N207N|NOSTRIN_ENST00000458381.2_Silent_p.N207N|NOSTRIN_ENST00000421711.2_Silent_p.N179N			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	186					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CACTAGAGAACTGCTACCAGG	0.383													11	54					0	0	0	0	T	169699618	C	T	169699618	2	4	82	1	0	0	0	0	0	0	0	1	10616	564	20	4		4	NOSTRIN	2	169699618	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	2851233	169699618	73499755	38	15868											
CHN1	1123	broad.mit.edu	37	chr2	175666459	175666459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatgtgccatgaggtacCggagggtttcgcagtgagca	9	10	15	7	2	0	3	0	2	0	1	1	4	0	4	2	3	3	4	2	3	2	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:175666459C>G	ENST00000409900.3	-	12	1497	c.1184G>C	c.(1183-1185)cGg>cCg	p.R395P	CHN1_ENST00000409156.3_Missense_Mutation_p.R369P|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.R211P|CHN1_ENST00000295497.7_Missense_Mutation_p.R270P	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	395	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.R395Q(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CATGAGGTACCGGAGGGTTTC	0.413			T	TAF15	extraskeletal myxoid chondrosarcoma								44	143					0	0	0	0	G	175666459	C	G	175666459	3	3	82	1	0	0	0	0	1	0	0	0	3391	652	23	3	203	3	CHN1	2	175666459	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	5966841	175666459	67532914	39	15869											
TTN	7273	broad.mit.edu	37	chr2	179447313	179447313	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacagatgctggaggacccGgtttatctgaaggaataagg	13	9	13	6	1	1	2	0	1	1	1	1	5	1	5	1	5	2	2	1	5	5	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:179447313G>C	ENST00000589042.1	-	314	66094	c.65870C>G	c.(65869-65871)cCg>cGg	p.P21957R	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13017R|TTN_ENST00000342175.6_Missense_Mutation_p.P13084R|TTN_ENST00000460472.2_Missense_Mutation_p.P12892R|TTN_ENST00000342992.6_Missense_Mutation_p.P19389R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P20316R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20316	Fibronectin type-III 59.						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)			TGGAGGACCCGGTTTATCTGA	0.438													6	47					0	0	0	0	C	179447313	G	C	179447313	3	2	82	1	0	0	0	0	1	0	0	0	16831	1116	39	3	42305	3	TTN	2	179447313	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	3780854	179447313	63752060	40	15870											
TTN	7273	broad.mit.edu	37	chr2	179590124	179590124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtggccatgttctccCtcattccaccatcattcttg	6	15	6	14	0	5	0	3	0	2	0	7	0	6	0	4	1	0	1	4	1	0	4	rs2742326		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:179590124C>G	ENST00000589042.1	-	71	21031	c.20807G>C	c.(20806-20808)aGg>aCg	p.R6936T	TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R5692T|TTN_ENST00000591111.1_Missense_Mutation_p.R6619T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6619	Ig-like 51.						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)			CATGTTCTCCCTCATTCCACC	0.418													8	12					0	0	0	0	G	179590124	C	G	179590124	3	3	82	1	0	0	0	0	1	0	0	0	16831	681	24	4	83890	4	TTN	2	179590124	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	142811	179590124	63609249	41	15871											
KLF7	8609	broad.mit.edu	37	chr2	207953303	207953303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagcacttataaggcttctCacctgcaagaagagatggaa	14	9	10	8	0	1	3	1	1	1	2	2	5	1	4	1	2	2	3	1	2	5	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:207953303C>T	ENST00000309446.6	-	3	1112	c.736G>A	c.(736-738)Gag>Aag	p.E246K	KLF7_ENST00000412414.2_Missense_Mutation_p.E218K|KLF7_ENST00000467833.1_5'UTR|KLF7_ENST00000421199.1_Missense_Mutation_p.E213K|KLF7_ENST00000458272.1_Missense_Mutation_p.E56K|KLF7_ENST00000423015.1_Silent_p.V178V	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	246					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		TAAGGCTTCTCACCTGCAAGA	0.547													20	78					0	0	0	0	T	207953303	C	T	207953303	3	4	82	1	0	0	0	0	1	0	0	0	8403	835	29	2	180	2	KLF7	2	207953303	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	28363179	207953303	35246070	42	15872											
PIKFYVE	200576	broad.mit.edu	37	chr2	209169573	209169573	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcccaacactaaaagattCtgccagtcctagcaagcgca	13	8	6	14	1	1	1	0	0	1	1	3	1	3	1	3	0	4	2	3	0	5	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:209169573C>G	ENST00000264380.4	+	12	1630	c.1472C>G	c.(1471-1473)tCt>tGt	p.S491C	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S491C|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S405C|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S394C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	491					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTAAAAGATTCTGCCAGTCCT	0.468													12	116					0	0	0	0	G	209169573	C	G	209169573	3	3	82	1	0	0	0	0	1	0	0	0	11996	913	32	2	1514	2	PIKFYVE	2	209169573	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	1216270	209169573	34029800	43	15873											
SPEG	10290	broad.mit.edu	37	chr2	220312735	220312735	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcgcagggaggagcccgaCcttcagcctcaactggccag	8	6	13	14	2	2	0	2	0	0	0	2	3	2	2	4	3	4	1	4	3	1	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:220312735C>T	ENST00000312358.7	+	4	987	c.855C>T	c.(853-855)gaC>gaT	p.D285D	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Silent_p.D181D	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	285	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGGAGCCCGACCTTCAGCCTC	0.672													12	34					0	0	0	0	T	220312735	C	T	220312735	2	4	82	1	0	0	0	0	0	0	0	1	15126	506	18	4		4	SPEG	2	220312735	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	11143162	220312735	22886638	44	15874											
USP40	55230	broad.mit.edu	37	chr2	234465564	234465564	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaacaatggttccatggtaCagacgatagatgaggtcatg	13	11	11	6	1	1	3	1	1	0	2	2	4	2	3	1	3	2	2	1	3	4	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:234465564C>A	ENST00000251722.6	-	5	600	c.483G>T	c.(481-483)ctG>ctT	p.L161L	USP40_ENST00000450966.1_Silent_p.L173L|USP40_ENST00000427112.2_Silent_p.L161L			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	161					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTCCATGGTACAGACGATAGA	0.403													21	65					7.41877e-09	8.16966e-09	1	0	A	234465564	C	A	234465564	2	1	82	1	0	0	0	0	0	0	0	1	17168	465	17	4		4	USP40	2	234465564	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	14152829	234465564	8733809	45	15875											
CHL1	10752	broad.mit.edu	37	chr3	404935	404935	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaacccctggagggcaGgcggtatcatatctatgaaa	13	8	12	8	1	2	2	1	2	1	0	2	3	2	3	2	4	1	2	2	4	5	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:404935G>C	ENST00000256509.2	+	14	2096	c.1454G>C	c.(1453-1455)aGg>aCg	p.R485T	CHL1_ENST00000397491.2_Missense_Mutation_p.R469T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	469	Ig-like C2-type 5.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTGGAGGGCAGGCGGTATCAT	0.428													20	60					0	0	0	0	C	404935	G	C	404935	3	2	82	1	0	0	0	0	1	0	0	0	3378	1000	35	4	1500	4	CHL1	3	404935	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08		404935	197617495	46	15876											
RAD18	56852	broad.mit.edu	37	chr3	8944189	8944189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagaagctgaaattcaCtcttatgttttttacctgaa	12	14	5	10	0	2	3	1	2	1	1	2	3	2	3	3	0	2	2	3	0	5	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:8944189C>A	ENST00000264926.2	-	10	1159	c.1043G>T	c.(1042-1044)aGt>aTt	p.S348I		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	348					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CTGAAATTCACTCTTATGTTT	0.333								Rad6 pathway					33	93					2.19358e-23	2.89638e-23	1	0	A	8944189	C	A	8944189	3	1	82	1	0	0	0	0	1	0	0	0	13062	565	20	4	460	4	RAD18	3	8944189	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	8539254	8944189	189078241	47	15877											
ARPP21	10777	broad.mit.edu	37	chr3	35748546	35748546	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttatcttgaagcgagataActctagtattgataaagaag	15	13	9	4	1	2	4	0	2	2	2	2	5	2	4	0	0	2	2	0	0	8	8			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:35748546A>T	ENST00000187397.4	+	10	1223	c.767A>T	c.(766-768)aAc>aTc	p.N256I	ARPP21_ENST00000417925.1_Missense_Mutation_p.N256I|ARPP21_ENST00000444190.1_Missense_Mutation_p.N256I|ARPP21_ENST00000458225.1_Missense_Mutation_p.N256I|ARPP21_ENST00000337271.5_Missense_Mutation_p.N256I	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	256						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAGCGAGATAACTCTAGTATT	0.398													36	71					0	0	0	0	T	35748546	A	T	35748546	3	4	82	1	0	0	0	0	1	0	0	0	982	43	2	5	810	5	ARPP21	3	35748546	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	26804357	35748546	162273884	48	15878											
VILL	50853	broad.mit.edu	37	chr3	38035866	38035866	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccttccagcagcgcctaCaggacgagctggggggccag	8	4	16	13	2	0	0	0	0	0	0	1	2	1	1	4	5	4	2	4	5	1	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:38035866C>A	ENST00000283713.6	+	4	516	c.250C>A	c.(250-252)Cag>Aag	p.Q84K	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Missense_Mutation_p.Q84K			O15195	VILL_HUMAN	villin-like	84					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCAGCGCCTACAGGACGAGCT	0.701													14	24					1.05317e-09	1.19359e-09	1	0	A	38035866	C	A	38035866	3	1	82	1	0	0	0	0	1	0	0	0	17261	479	17	4	260	4	VILL	3	38035866	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	2287320	38035866	159986564	49	15879											
NSUN3	63899	broad.mit.edu	37	chr3	93781974	93781974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctctcagcgggacaatgCtgacccaggtgagacctggg	10	6	14	11	1	1	2	1	2	1	1	2	4	1	3	2	3	3	2	2	3	2	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:93781974C>T	ENST00000314622.4	+	1	215	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	DHFRL1_ENST00000394221.2_5'UTR|NSUN3_ENST00000485793.1_3'UTR	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	2							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CGGGACAATGCTGACCCAGGT	0.572													55	186					0	0	0	0	T	93781974	C	T	93781974	2	4	82	1	0	0	0	0	0	0	0	1	10750	796	28	4		4	NSUN3	3	93781974	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	55746108	93781974	104240456	50	15880											
DZIP3	9666	broad.mit.edu	37	chr3	108403092	108403092	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttaggaagacctcttgtGaaagaatctttctttagacc	11	15	7	8	0	4	4	0	1	4	3	4	5	4	5	2	1	0	0	2	1	5	6			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:108403092G>C	ENST00000361582.3	+	27	3143	c.2913G>C	c.(2911-2913)gtG>gtC	p.V971V	DZIP3_ENST00000463306.1_Silent_p.V971V	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	971					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GACCTCTTGTGAAAGAATCTT	0.413													117	417					0	0	0	0	C	108403092	G	C	108403092	2	2	82	1	0	0	0	0	0	0	0	1	4901	1277	45	2		2	DZIP3	3	108403092	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08	14621118	108403092	89619338	51	15881											
FBXO40	51725	broad.mit.edu	37	chr3	121340297	121340297	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggggaaagcccgcagatcCccgccagggcaccacaggca	11	1	13	16	2	0	1	0	0	0	1	1	2	1	2	5	4	1	3	5	4	1	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:121340297C>A	ENST00000338040.4	+	3	435	c.21C>A	c.(19-21)tcC>tcA	p.S7S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	7					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCCGCAGATCCCCGCCAGGGC	0.532													37	235					2.47316e-13	2.89956e-13	1	0	A	121340297	C	A	121340297	2	1	82	1	0	0	0	0	0	0	0	1	5794	610	22	4		4	FBXO40	3	121340297	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	12937205	121340297	76682133	52	15882											
CCDC14	64770	broad.mit.edu	37	chr3	123634533	123634533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactgtccacactaagatcgGagagaagctttgccatgcta	12	9	9	11	1	0	2	0	0	0	2	2	4	1	3	2	1	3	2	2	1	3	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:123634533G>A	ENST00000485727.1	-	9	5947	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	CCDC14_ENST00000488653.2_Missense_Mutation_p.S652F|CCDC14_ENST00000310351.4_Missense_Mutation_p.S492F|CCDC14_ENST00000433542.2_Missense_Mutation_p.S611F|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.S452F			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	652						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ACTAAGATCGGAGAGAAGCTT	0.383													70	187					0	0	0	0	A	123634533	G	A	123634533	3	1	82	1	0	0	0	0	1	0	0	0	2798	1174	41	2	910	2	CCDC14	3	123634533	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	2294236	123634533	74387897	53	15883											
MED12L	116931	broad.mit.edu	37	chr3	151094808	151094808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggccgaaatgaacaaCttactggacaatattgcaaa	15	10	8	8	1	1	1	0	1	1	0	1	3	1	2	1	2	4	1	1	2	7	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:151094808C>G	ENST00000474524.1	+	28	4091	c.4053C>G	c.(4051-4053)aaC>aaG	p.N1351K	MED12L_ENST00000273432.4_Missense_Mutation_p.N1211K|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1351					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAATGAACAACTTACTGGACA	0.398													22	82					0	0	0	0	G	151094808	C	G	151094808	3	3	82	1	0	0	0	0	1	0	0	0	9498	564	20	4	4163	4	MED12L	3	151094808	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	27460275	151094808	46927622	54	15884											
TIPARP	25976	broad.mit.edu	37	chr3	156411959	156411959	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtagggaccactttggAtggagagagtatcccgaggt	9	11	14	7	1	1	1	0	0	1	1	2	6	2	4	2	4	0	2	2	4	2	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:156411959A>T	ENST00000461166.1	+	3	1656	c.1068A>T	c.(1066-1068)ggA>ggT	p.G356G	TIPARP_ENST00000542783.1_Silent_p.G356G|TIPARP_ENST00000486483.1_Silent_p.G356G|TIPARP_ENST00000295924.7_Silent_p.G356G	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	356	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCACTTTGGATGGAGAGAGT	0.373													69	225					0	0	0	0	T	156411959	A	T	156411959	2	4	82	1	0	0	0	0	0	0	0	1	16018	320	12	5		5	TIPARP	3	156411959	Silent	SNP	A	TCGA-CN-5363-01A-01D-1434-08	5317151	156411959	41610471	55	15885											
LEKR1	389170	broad.mit.edu	37	chr3	156710895	156710895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttaaggaaaaagaagactCtttaatgacttgtcaacaga	17	10	8	6	0	2	4	1	1	1	3	2	5	2	5	0	1	1	1	0	1	6	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:156710895C>T	ENST00000470811.1	+	10	1361	c.26C>T	c.(25-27)tCt>tTt	p.S9F	LEKR1_ENST00000356539.4_Missense_Mutation_p.S313F			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	70										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAGAAGACTCTTTAATGACT	0.318													22	87					0	0	0	0	T	156710895	C	T	156710895	3	4	82	1	0	0	0	0	1	0	0	0	8770	913	32	2	968	2	LEKR1	3	156710895	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	298936	156710895	41311535	56	15886											
SLITRK3	22865	broad.mit.edu	37	chr3	164905718	164905718	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgtcttctccaggacttcGaggtaatccggcttggtttg	5	15	12	9	2	2	0	0	0	2	0	5	2	3	1	2	4	0	4	2	4	1	6			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:164905718G>A	ENST00000475390.1	-	2	3344	c.2901C>T	c.(2899-2901)ctC>ctT	p.L967L	SLITRK3_ENST00000241274.3_Silent_p.L967L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	967						integral to membrane		p.L967L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCAGGACTTCGAGGTAATCCG	0.388										HNSCC(40;0.11)			79	270					0	0	0	0	A	164905718	G	A	164905718	2	1	82	1	0	0	0	0	0	0	0	1	14832	1045	37	1		1	SLITRK3	3	164905718	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08	8194823	164905718	33116712	57	15887											
SLITRK3	22865	broad.mit.edu	37	chr3	164906404	164906404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggatgtactcatacaCatgacccacgggaggggcct	9	7	15	10	1	1	1	1	1	0	0	1	3	1	3	2	5	2	1	2	5	2	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:164906404C>T	ENST00000475390.1	-	2	2658	c.2215G>A	c.(2215-2217)Gtg>Atg	p.V739M	SLITRK3_ENST00000241274.3_Missense_Mutation_p.V739M			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	739						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TACTCATACACATGACCCACG	0.582										HNSCC(40;0.11)			43	112					0	0	0	0	T	164906404	C	T	164906404	3	4	82	1	0	0	0	0	1	0	0	0	14832	478	17	4	722	4	SLITRK3	3	164906404	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	686	164906404	33116026	58	15888											
MFN1	55669	broad.mit.edu	37	chr3	179095193	179095193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggttgatgaattttgttCagagtttcatcctaatccag	9	18	8	6	0	2	3	2	2	0	1	4	3	4	3	2	1	0	3	2	1	2	7			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:179095193C>T	ENST00000471841.1	+	12	1412	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	MFN1_ENST00000280653.7_Missense_Mutation_p.S429L|MFN1_ENST00000263969.5_Missense_Mutation_p.S429L	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	429					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAATTTTGTTCAGAGTTTCAT	0.264													32	123					0	0	0	0	T	179095193	C	T	179095193	3	4	82	1	0	0	0	0	1	0	0	0	9592	838	29	2	1328	2	MFN1	3	179095193	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	14188789	179095193	18927237	59	15889											
ATP11B	23200	broad.mit.edu	37	chr3	182602582	182602582	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacaggctgcaagaaacagtGactatgcaatagccagattt	15	8	10	8	0	0	3	0	1	0	2	0	4	0	3	1	1	4	3	1	1	5	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:182602582G>C	ENST00000323116.5	+	22	2811	c.2551G>C	c.(2551-2553)Gac>Cac	p.D851H		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	851					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AAGAAACAGTGACTATGCAAT	0.318													27	85					0	0	0	0	C	182602582	G	C	182602582	3	2	82	1	0	0	0	0	1	0	0	0	1124	1290	45	2	2637	2	ATP11B	3	182602582	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	3507389	182602582	15419848	60	15890											
FETUB	26998	broad.mit.edu	37	chr3	186358267	186358267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaatgggtctgctccttccCctggcactctgcatcctagt	6	12	9	14	0	2	1	0	0	2	1	5	1	5	1	4	2	2	3	4	2	2	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:186358267C>T	ENST00000265029.3	+	1	119	c.18C>T	c.(16-18)ccC>ccT	p.P6P	FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Silent_p.P6P|FETUB_ENST00000382136.3_Silent_p.P6P|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000450521.1_Silent_p.P6P	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	6						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TGCTCCTTCCCCTGGCACTCT	0.597													65	391					0	0	0	0	T	186358267	C	T	186358267	2	4	82	1	0	0	0	0	0	0	0	1	5866	610	22	4		4	FETUB	3	186358267	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	3755685	186358267	11664163	61	15891											
ZNF595	152687	broad.mit.edu	37	chr4	59413	59413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaatttgtatagagatGtgatgttggagaactacagg	14	11	13	3	0	0	4	0	1	0	3	0	6	0	4	0	2	3	3	0	2	5	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:59413G>T	ENST00000509152.2	+	2	279	c.94G>T	c.(94-96)Gtg>Ttg	p.V32L	ZNF595_ENST00000526473.2_Missense_Mutation_p.V32L|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GTATAGAGATGTGATGTTGGA	0.433													43	546					2.24893e-16	2.75545e-16	1	0	T	59413	G	T	59413	3	4	82	1	0	0	0	0	1	0	0	0	18120	1377	48	4	100	4	ZNF595	4	59413	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08		59413	191094863	62	15892											
KDR	3791	broad.mit.edu	37	chr4	55976627	55976627	+	Frame_Shift_Del	DEL	G	G	-																															ctttgaaatgggattggtaaGgatgacagtgtaatttcctg																										TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:55976627delG	ENST00000263923.4	-	9	1493	c.1198delC	c.(1198-1200)ttfs	p.L400fs		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	400	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGATTGGTAAGGATGACAGTG	0.423			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			38	125	---	---	---	---					-	55976627	G	-	55976627	7	5	82	1	0	1	0	1	0	0	0	0	8191	1000	35	0	2960	0	KDR	4	55976627	Frame_Shift_Del	DEL	G	TCGA-CN-5363-01A-01D-1434-08	55917214	55976627	135177649	63	15893											
KIAA1211	57482	broad.mit.edu	37	chr4	57182340	57182340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcagcggggagcgctcgtgGagagaaagagatggagggtg	10	5	21	5	3	0	2	0	0	0	2	1	7	0	5	0	5	3	2	0	5	1	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:57182340G>A	ENST00000504228.1	+	6	2777	c.2672G>A	c.(2671-2673)gGa>gAa	p.G891E	KIAA1211_ENST00000541073.1_Missense_Mutation_p.G884E|KIAA1211_ENST00000264229.6_Missense_Mutation_p.G891E			Q6ZU35	K1211_HUMAN	KIAA1211	891										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCGCTCGTGGAGAGAAAGAG	0.627													7	35					0	0	0	0	A	57182340	G	A	57182340	3	1	82	1	0	0	0	0	1	0	0	0	8266	1174	41	2	2690	2	KIAA1211	4	57182340	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	1205713	57182340	133971936	64	15894											
SMR3A	26952	broad.mit.edu	37	chr4	71232413	71232413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatccacctggaccactggCtcctcctcctccaccatgtt	7	11	5	18	0	0	0	0	0	0	0	5	1	5	1	8	2	0	2	8	2	1	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:71232413C>A	ENST00000226460.4	+	3	203	c.107C>A	c.(106-108)gCt>gAt	p.A36D		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	36	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGACCACTGGCTCCTCCTCCT	0.488													46	162					1.19451e-25	1.59268e-25	1	0	A	71232413	C	A	71232413	3	1	82	1	0	0	0	0	1	0	0	0	14899	797	28	4	113	4	SMR3A	4	71232413	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	14050073	71232413	119921863	65	15895											
SMARCAD1	56916	broad.mit.edu	37	chr4	95200121	95200121	+	Frame_Shift_Del	DEL	A	A	-																															atgtcatgatgcagttgaggAaaatggccaatcatccttta																										TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:95200121delA	ENST00000354268.4	+	19	2411	c.2338delA	c.(2338-2340)aafs	p.K780fs	SMARCAD1_ENST00000509418.1_Frame_Shift_Del_p.K350fs|SMARCAD1_ENST00000457823.2_Frame_Shift_Del_p.K782fs			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	780					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GCAGTTGAGGAAAATGGCCAA	0.338													14	60	---	---	---	---					-	95200121	A	-	95200121	7	5	82	1	0	1	0	1	0	0	0	0	14860	247	9	0	2414	0	SMARCAD1	4	95200121	Frame_Shift_Del	DEL	A	TCGA-CN-5363-01A-01D-1434-08	23967708	95200121	95954155	66	15896											
INTS12	57117	broad.mit.edu	37	chr4	106604207	106604207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtggttttaaaggtaCagtgggcgtagtgctgttat	8	14	16	3	1	0	0	0	0	0	0	0	1	0	1	0	5	2	5	0	5	5	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:106604207C>T	ENST00000451321.2	-	7	1551	c.1072G>A	c.(1072-1074)Gta>Ata	p.V358I	INTS12_ENST00000394735.1_Missense_Mutation_p.V358I|INTS12_ENST00000340139.5_Missense_Mutation_p.V358I	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	358	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TTTAAAGGTACAGTGGGCGTA	0.463													78	240					0	0	0	0	T	106604207	C	T	106604207	3	4	82	1	0	0	0	0	1	0	0	0	7830	478	17	4	320	4	INTS12	4	106604207	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	11404086	106604207	84550069	67	15897											
CFI	3426	broad.mit.edu	37	chr4	110667391	110667391	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catatacctttttctcgtccCcagccagaaacgatgcatgt	10	12	6	13	2	1	1	0	0	1	1	3	2	2	1	4	0	4	1	4	0	3	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:110667391C>G	ENST00000394634.2	-	11	1623	c.1416G>C	c.(1414-1416)tgG>tgC	p.W472C	CFI_ENST00000394635.3_Missense_Mutation_p.W480C|CFI_ENST00000512148.1_Missense_Mutation_p.W465C	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	472	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTTCTCGTCCCCAGCCAGAAA	0.418													29	89					0	0	0	0	G	110667391	C	G	110667391	3	3	82	1	0	0	0	0	1	0	0	0	3318	624	22	4	347	4	CFI	4	110667391	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	4063184	110667391	80486885	68	15898											
NDST4	64579	broad.mit.edu	37	chr4	115858571	115858571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataccccagaccttcttcCaagctgcatacagctgaatg	12	9	7	13	0	1	2	0	1	1	1	2	3	2	2	4	0	5	3	4	0	5	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:115858571C>A	ENST00000264363.2	-	5	1988	c.1310G>T	c.(1309-1311)tGg>tTg	p.W437L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	437	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GACCTTCTTCCAAGCTGCATA	0.483													43	133					8.16277e-20	1.03751e-19	1	0	A	115858571	C	A	115858571	3	1	82	1	0	0	0	0	1	0	0	0	10328	595	21	4	1348	4	NDST4	4	115858571	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	5191180	115858571	75295705	69	15899											
ADAD1	132612	broad.mit.edu	37	chr4	123336765	123336765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgagtgggaagatcaCtgaaaggttaaaattactaa	15	10	11	5	0	1	3	1	2	0	1	1	4	1	4	1	3	1	1	1	3	6	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:123336765C>A	ENST00000296513.2	+	11	1666	c.1481C>A	c.(1480-1482)aCt>aAt	p.T494N	ADAD1_ENST00000388724.2_Missense_Mutation_p.T483N|ADAD1_ENST00000388725.2_Missense_Mutation_p.T476N	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	494	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGGAAGATCACTGAAAGGTTA	0.323													52	196					3.94638e-17	4.90144e-17	1	0	A	123336765	C	A	123336765	3	1	82	1	0	0	0	0	1	0	0	0	231	565	20	4	1515	4	ADAD1	4	123336765	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	7478194	123336765	67817511	70	15900											
INPP4B	8821	broad.mit.edu	37	chr4	143350367	143350367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatttggagtcttctggAtacctataaataataggagc	12	14	9	6	0	3	0	1	0	2	0	3	3	3	3	1	3	2	1	1	3	6	8			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:143350367A>G	ENST00000513000.1	-	6	528	c.95T>C	c.(94-96)aTc>aCc	p.I32T	INPP4B_ENST00000508116.1_Missense_Mutation_p.I32T|INPP4B_ENST00000509777.1_Missense_Mutation_p.I32T|INPP4B_ENST00000506217.1_Missense_Mutation_p.I32T|INPP4B_ENST00000262992.4_Missense_Mutation_p.I32T|INPP4B_ENST00000308502.4_Missense_Mutation_p.I32T|INPP4B_ENST00000507861.1_Missense_Mutation_p.I32T	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	32	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AGTCTTCTGGATACCTATAAA	0.274													15	30					0	0	0	0	G	143350367	A	G	143350367	3	3	82	1	0	0	0	0	1	0	0	0	7806	333	12	5	2767	5	INPP4B	4	143350367	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	20013602	143350367	47803909	71	15901											
POU4F2	5458	broad.mit.edu	37	chr4	147561057	147561057	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggatgagagtctgctggcCcgcgccgaggctctggcagc	5	7	16	13	3	2	1	0	1	2	1	2	4	2	2	2	4	2	3	2	4	0	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:147561057C>A	ENST00000281321.3	+	2	575	c.327C>A	c.(325-327)gcC>gcA	p.A109A		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	109					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GTCTGCTGGCCCGCGCCGAGG	0.602													8	26					9.70103e-10	1.10405e-09	1	0	A	147561057	C	A	147561057	2	1	82	1	0	0	0	0	0	0	0	1	12350	610	22	4		4	POU4F2	4	147561057	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	4210690	147561057	43593219	72	15902											
TTC29	83894	broad.mit.edu	37	chr4	147741347	147741347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctttgaaaattgtttcttGcaattttcacaaattttttc	10	20	5	6	0	2	1	1	1	1	0	3	1	2	1	0	1	1	3	0	1	4	9			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:147741347G>A	ENST00000513335.1	-	11	1308	c.1109C>T	c.(1108-1110)gCa>gTa	p.A370V	TTC29_ENST00000398886.4_Missense_Mutation_p.A370V|TTC29_ENST00000325106.4_Missense_Mutation_p.A344V			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	344							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATTGTTTCTTGCAATTTTCAC	0.333													8	108					0	0	0	0	A	147741347	G	A	147741347	3	1	82	1	0	0	0	0	1	0	0	0	16792	1319	46	4	412	4	TTC29	4	147741347	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	180290	147741347	43412929	73	15903											
LRAT	9227	broad.mit.edu	37	chr4	155670238	155670238	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgggcttggtatcatacActacccttcctgcaattttt	8	15	7	11	1	1	0	1	0	0	0	2	0	2	0	2	2	4	4	2	2	5	8	rs140421566	by1000genomes	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:155670238A>G	ENST00000336356.3	+	3	896	c.643A>G	c.(643-645)Act>Gct	p.T215A	LRAT_ENST00000507827.1_Missense_Mutation_p.T215A	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	215					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GGTATCATACACTACCCTTCC	0.403													63	276					0	0	0	0	G	155670238	A	G	155670238	3	3	82	1	0	0	0	0	1	0	0	0	8994	159	6	5	649	5	LRAT	4	155670238	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	7928891	155670238	35484038	74	15904											
SORBS2	8470	broad.mit.edu	37	chr4	186544587	186544587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaatcgagtgtaggaggccgGgcacctgcctttgcaggagc	9	7	15	10	2	0	0	0	0	0	0	1	3	0	2	3	4	3	3	3	4	2	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:186544587G>T	ENST00000431808.1	-	14	2547	c.1984C>A	c.(1984-1986)Ccg>Acg	p.P662T	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P662T|SORBS2_ENST00000418609.1_Missense_Mutation_p.P566T|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P762T|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	662						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGGAGGCCGGGCACCTGCCT	0.552													63	128					3.86002e-21	5.02356e-21	1	0	T	186544587	G	T	186544587	3	4	82	1	0	0	0	0	1	0	0	0	15016	1232	43	4	1354	4	SORBS2	4	186544587	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	30874349	186544587	4609689	75	15905											
FRG1	2483	broad.mit.edu	37	chr4	190876258	190876258	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggacttgttgttgggcgTtcagatgcaattggaccaag	9	12	14	6	1	1	1	1	0	0	1	1	4	1	3	1	3	1	4	1	3	2	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:190876258T>C	ENST00000226798.4	+	5	606	c.384T>C	c.(382-384)cgT>cgC	p.R128R	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	128					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTGTTGGGCGTTCAGATGCAA	0.353													4	217					0	0	0	0	C	190876258	T	C	190876258	2	2	82	1	0	0	0	0	0	0	0	1	6094	1712	60	5		5	FRG1	4	190876258	Silent	SNP	T	TCGA-CN-5363-01A-01D-1434-08	4331671	190876258	278018	76	15906											
SLC12A7	10723	broad.mit.edu	37	chr5	1089145	1089145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggactccaggacaccagcCacccccacgatccacgtcag	12	3	8	18	2	1	0	1	0	0	0	3	3	3	2	6	2	1	0	6	2	1	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:1089145C>T	ENST00000264930.5	-	4	484	c.441G>A	c.(439-441)gtG>gtA	p.V147V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	147					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGACACCAGCCACCCCCACGA	0.652													36	124					0	0	0	0	T	1089145	C	T	1089145	2	4	82	1	0	0	0	0	0	0	0	1	14476	581	21	4		4	SLC12A7	5	1089145	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08		1089145	179826115	77	15907											
DNAH5	1767	broad.mit.edu	37	chr5	13716599	13716599	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctgaagttgacaaacctgGatatactgaagatagttatc	14	13	8	6	0	1	4	0	3	1	1	2	5	1	5	1	1	2	2	1	1	7	6	rs113914833		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:13716599G>T	ENST00000265104.4	-	74	13010	c.12906C>A	c.(12904-12906)atC>atA	p.I4302I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4302					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAAACCTGGATATACTGAA	0.333									Kartagener syndrome				19	46					3.8784e-16	4.73061e-16	1	0	T	13716599	G	T	13716599	2	4	82	1	0	0	0	0	0	0	0	1	4641	1164	41	2		2	DNAH5	5	13716599	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08	12627454	13716599	167198661	78	15908											
DNAH5	1767	broad.mit.edu	37	chr5	13841180	13841180	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttttatcaaacttggcAtttctaagggcttcttctga	9	19	6	7	0	4	1	1	1	3	0	4	1	4	1	0	2	1	2	0	2	3	9			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:13841180A>G	ENST00000265104.4	-	34	5648	c.5544T>C	c.(5542-5544)aaT>aaC	p.N1848N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1848	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAACTTGGCATTTCTAAGGG	0.388									Kartagener syndrome				38	150					0	0	0	0	G	13841180	A	G	13841180	2	3	82	1	0	0	0	0	0	0	0	1	4641	214	8	5		5	DNAH5	5	13841180	Silent	SNP	A	TCGA-CN-5363-01A-01D-1434-08	124581	13841180	167074080	79	15909											
HCN1	348980	broad.mit.edu	37	chr5	45353210	45353210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataaatcttacctctctcaGaggatcattgagttcattga	13	14	6	8	0	5	3	3	2	2	1	6	4	5	4	1	1	1	1	1	1	4	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:45353210G>C	ENST00000303230.4	-	5	1426	c.1369C>G	c.(1369-1371)Ctg>Gtg	p.L457V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	457						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.L457M(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCTCTCTCAGAGGATCATTG	0.348													31	90					0	0	0	0	C	45353210	G	C	45353210	3	2	82	1	0	0	0	0	1	0	0	0	7046	933	33	2	1319	2	HCN1	5	45353210	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	31512030	45353210	135562050	80	15910											
NDUFS4	4724	broad.mit.edu	37	chr5	52942221	52942221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatgggaaaatcctttgatGggttgggcatcaacgtgagt	10	11	14	6	2	1	2	1	2	0	0	2	4	2	3	1	3	1	2	1	3	3	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:52942221G>A	ENST00000296684.5	+	3	364	c.336G>A	c.(334-336)atG>atA	p.M112I		NM_002495.2	NP_002486.1	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	112					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	ATCCTTTGATGGGTTGGGCAT	0.353													13	104					0	0	0	0	A	52942221	G	A	52942221	3	1	82	1	0	0	0	0	1	0	0	0	10364	1348	47	4	346	4	NDUFS4	5	52942221	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	7589011	52942221	127973039	81	15911											
IL6ST	3572	broad.mit.edu	37	chr5	55250717	55250717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctttatctgataacacacaCcactcaagtatatatttctt	13	15	3	10	0	3	1	1	1	2	0	3	1	3	1	1	0	1	2	1	0	6	8			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:55250717C>A	ENST00000381298.2	-	11	1683	c.1371G>T	c.(1369-1371)tgG>tgT	p.W457C	IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.W457C|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.W457C	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	457	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATAACACACACCACTCAAGTA	0.423			O		hepatocellular ca								46	320					1.35964e-18	1.71214e-18	1	0	A	55250717	C	A	55250717	3	1	82	1	0	0	0	0	1	0	0	0	7756	508	18	4	1413	4	IL6ST	5	55250717	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	2308496	55250717	125664543	82	15912											
ERBB2IP	55914	broad.mit.edu	37	chr5	65370963	65370963	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcatccctctagagaacaaCtaattgattacttgatgctg	12	12	8	9	0	1	3	0	2	1	1	2	4	2	3	1	1	4	2	1	1	5	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:65370963C>G	ENST00000284037.5	+	23	4257	c.3868C>G	c.(3868-3870)Cta>Gta	p.L1290V	ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L1249V|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L1297V|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L1238V|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L1249V|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L1245V|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L1249V|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L488V|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000503913.1_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1290					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TAGAGAACAACTAATTGATTA	0.488													60	184					0	0	0	0	G	65370963	C	G	65370963	3	3	82	1	0	0	0	0	1	0	0	0	5245	564	20	4	3823	4	ERBB2IP	5	65370963	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	10120246	65370963	115544297	83	15913											
NAIP	4671	broad.mit.edu	37	chr5	70308192	70308192	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtaaagacaaagccaGcctctgagagcacacaaggg	15	5	10	11	0	1	2	0	1	1	2	1	3	1	2	3	1	4	2	3	1	5	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:70308192G>C	ENST00000517649.1	-	4	841	c.551C>G	c.(550-552)gCt>gGt	p.A184G	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.A184G|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.A184G	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	184					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GACAAAGCCAGCCTCTGAGAG	0.413													22	76					0	0	0	0	C	70308192	G	C	70308192	3	2	82	1	0	0	0	0	1	0	0	0	10217	971	34	4	3716	4	NAIP	5	70308192	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	4937229	70308192	110607068	84	15914											
ENC1	8507	broad.mit.edu	37	chr5	73931933	73931933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggatgtcttgaaactccagCatgtcaccagcttccaggag	10	9	10	12	1	2	1	1	1	1	0	4	3	4	3	3	2	3	2	3	2	1	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:73931933C>A	ENST00000302351.4	-	2	1508	c.378G>T	c.(376-378)atG>atT	p.M126I	ENC1_ENST00000510316.1_Missense_Mutation_p.M53I|ENC1_ENST00000537006.1_Missense_Mutation_p.M126I	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	126				INEENAESLLEAGDMLEFQ -> HQLEGKCRNSLLGSLVTC WSFK (in Ref. 1).	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GAAACTCCAGCATGTCACCAG	0.532													25	142					1.42536e-11	1.63585e-11	1	0	A	73931933	C	A	73931933	3	1	82	1	0	0	0	0	1	0	0	0	5151	710	25	4	1395	4	ENC1	5	73931933	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	3623741	73931933	106983327	85	15915											
AP3B1	8546	broad.mit.edu	37	chr5	77521392	77521392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttatctttcagaagtttttCaattacttcaattaacattt	12	21	2	6	0	4	1	3	0	1	1	4	1	4	1	0	0	2	1	0	0	6	9	rs149521661		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:77521392C>T	ENST00000255194.6	-	6	752	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	AP3B1_ENST00000519295.1_Missense_Mutation_p.E144K	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	193					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AGAAGTTTTTCAATTACTTCA	0.254									Hermansky-Pudlak syndrome				13	41					0	0	0	0	T	77521392	C	T	77521392	3	4	82	1	0	0	0	0	1	0	0	0	745	835	29	2	2795	2	AP3B1	5	77521392	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	3589459	77521392	103393868	86	15916											
TTC37	9652	broad.mit.edu	37	chr5	94852062	94852062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaacatatttacctcaaTgttttcatttgtgaggtata	12	16	7	6	0	2	1	2	1	0	0	2	1	2	1	1	2	2	3	1	2	6	8			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:94852062T>C	ENST00000358746.2	-	25	2927	c.2629A>G	c.(2629-2631)Att>Gtt	p.I877V		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	877			Missing (found in a patient with THE syndrome).				binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTACCTCAATGTTTTCATTT	0.328													14	80					0	0	0	0	C	94852062	T	C	94852062	3	2	82	1	0	0	0	0	1	0	0	0	16801	1464	51	5	2141	5	TTC37	5	94852062	Missense_Mutation	SNP	T	TCGA-CN-5363-01A-01D-1434-08	17330670	94852062	86063198	87	15917											
YTHDC2	64848	broad.mit.edu	37	chr5	112917312	112917312	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaggcctatgtcttcaGaagagcttcctttggcctca	8	11	10	12	0	3	2	2	0	1	2	4	2	4	2	4	3	1	1	4	3	3	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:112917312G>T	ENST00000161863.4	+	25	3766	c.3553G>T	c.(3553-3555)Gaa>Taa	p.E1185*		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1185							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TATGTCTTCAGAAGAGCTTCC	0.408													23	56					1.10923e-09	1.25191e-09	1	0	T	112917312	G	T	112917312	4	4	82	1	0	0	0	0	0	1	0	0	17593	943	33	2	3651	2	YTHDC2	5	112917312	Nonsense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	18065250	112917312	67997948	88	15918											
KCNN2	3781	broad.mit.edu	37	chr5	113829151	113829151	+	Frame_Shift_Del	DEL	T	T	-																															ctgaatgaccaagcaaacacTttggtggacttggcaaaggt																										TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:113829151delT	ENST00000512097.3	+	8	2452	c.1434delT	c.(1432-1434)acfs	p.T478fs	KCNN2_ENST00000507750.1_3'UTR|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Frame_Shift_Del_p.T478fs|KCNN2_ENST00000503706.1_Frame_Shift_Del_p.T130fs			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	478	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AAGCAAACACTTTGGTGGACT	0.403													21	64	---	---	---	---					-	113829151	T	-	113829151	7	5	82	1	0	1	0	1	0	0	0	0	8132	1596	56	0	1460	0	KCNN2	5	113829151	Frame_Shift_Del	DEL	T	TCGA-CN-5363-01A-01D-1434-08	911839	113829151	67086109	89	15919											
C5orf48	389320	broad.mit.edu	37	chr5	125971893	125971893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctctctccagataccaaaGcactgtgatttcccatggct	9	11	7	14	0	1	2	0	1	1	1	4	2	3	2	4	1	2	2	4	1	2	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:125971893G>A	ENST00000357147.3	+	3	378	c.365G>A	c.(364-366)aGc>aAc	p.S122N		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	122										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						AGATACCAAAGCACTGTGATT	0.403													25	143					0	0	0	0	A	125971893	G	A	125971893	3	1	82	1	0	0	0	0	1	0	0	0	2327	971	34	4	375	4	C5orf48	5	125971893	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	12142742	125971893	54943367	90	15920											
PCDHA7	56141	broad.mit.edu	37	chr5	140214169	140214169	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcctgttccgggcggtGtgcaaattccgtggggatct	4	10	15	12	5	1	0	0	0	1	0	3	1	3	1	4	4	1	2	4	4	1	2	rs139714335		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:140214169G>T	ENST00000525929.1	+	1	201	c.201G>T	c.(199-201)gtG>gtT	p.V67V	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.V67V|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGCGGTGTGCAAATTCC	0.632													50	278					3.19069e-20	4.09371e-20	1	0	T	140214169	G	T	140214169	2	4	82	1	0	0	0	0	0	0	0	1	11600	1364	48	4		4	PCDHA7	5	140214169	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08	14242276	140214169	40701091	91	15921											
PCDHA12	56137	broad.mit.edu	37	chr5	140256976	140256976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacgcatcctggatgaggCggacgctccgcgccaccgcc	7	4	13	17	6	0	1	0	1	0	0	2	4	2	3	5	3	0	2	5	3	0	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:140256976C>T	ENST00000398631.2	+	1	1919	c.1919C>T	c.(1918-1920)gCg>gTg	p.A640V	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGATGAGGCGGACGCTCCG	0.687													19	54					0	0	0	0	T	140256976	C	T	140256976	3	4	82	1	0	0	0	0	1	0	0	0	11593	768	27	1	1921	1	PCDHA12	5	140256976	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	42807	140256976	40658284	92	15922											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720647	140720647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggccgcggtctcctgcgtCttcctggccttcgtcatcgt	1	13	12	15	5	3	0	1	0	2	0	7	0	4	0	4	3	1	0	4	3	0	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:140720647C>T	ENST00000394576.2	+	1	2109	c.2109C>T	c.(2107-2109)gtC>gtT	p.V703V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTGCGTCTTCCTGGCCT	0.652													60	165					0	0	0	0	T	140720647	C	T	140720647	2	4	82	1	0	0	0	0	0	0	0	1	11625	900	32	2		2	PCDHGA2	5	140720647	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	463671	140720647	40194613	93	15923											
PCDH1	5097	broad.mit.edu	37	chr5	141233630	141233630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtagatctcgcgcttggCcgtctgggcagatgccggtg	5	9	16	11	4	2	2	0	0	2	2	3	2	2	2	2	4	1	3	2	4	1	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:141233630C>T	ENST00000287008.3	-	5	3838	c.3691G>A	c.(3691-3693)Gcc>Acc	p.A1231T	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCGCGCTTGGCCGTCTGGGCA	0.672													3	26					0	0	0	0	T	141233630	C	T	141233630	3	4	82	1	0	0	0	0	1	0	0	0	11577	739	26	4	26	4	PCDH1	5	141233630	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	512983	141233630	39681630	94	15924											
ZNF184	7738	broad.mit.edu	37	chr6	27424701	27424701	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttagaaacttggagtcCtgttcattagggaaaaaaag	15	11	11	4	0	1	1	1	0	0	1	2	3	2	3	1	3	1	2	1	3	6	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:27424701C>T	ENST00000211936.6	-	5	487		c.e5-1		ZNF184_ENST00000377419.1_Splice_Site	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ACTTGGAGTCCTGTTCATTAG	0.408													56	124					0	0	0	0	T	27424701	C	T	27424701	5	4	82	1	0	0	0	0	0	0	1	0	17846	695	24	4	2061	4	ZNF184	6	27424701	Splice_Site	SNP	C	TCGA-CN-5363-01A-01D-1434-08		27424701	143690366	95	15925											
GPX6	257202	broad.mit.edu	37	chr6	28473519	28473519	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttctttttctccattCacatcccctttctcaaagag	7	18	3	13	0	5	1	2	0	4	1	8	1	6	1	3	0	0	1	3	0	1	6			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:28473519C>A	ENST00000361902.1	-	4	469	c.420G>T	c.(418-420)gtG>gtT	p.V140V	GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	140			V -> M (in dbSNP:rs36055795).		response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TTTCTCCATTCACATCCCCTT	0.453													12	80					7.03913e-09	7.7831e-09	1	0	A	28473519	C	A	28473519	2	1	82	1	0	0	0	0	0	0	0	1	6794	813	29	2		2	GPX6	6	28473519	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	1048818	28473519	142641548	96	15926											
CCHCR1	54535	broad.mit.edu	37	chr6	31110480	31110480	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctgcaggtcatcgagcagGacagagagggaccctgggaa	11	5	15	10	1	1	1	1	0	0	1	3	6	2	4	2	4	2	2	2	4	1	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:31110480G>A	ENST00000396268.3	-	18	2693	c.2505C>T	c.(2503-2505)gtC>gtT	p.V835V	CCHCR1_ENST00000376266.5_Silent_p.V746V|CCHCR1_ENST00000451521.2_Silent_p.V799V|CCHCR1_ENST00000396263.2_Silent_p.V693V	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	746					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CATCGAGCAGGACAGAGAGGG	0.537													42	109					0	0	0	0	A	31110480	G	A	31110480	2	1	82	1	0	0	0	0	0	0	0	1	2904	1161	41	2		2	CCHCR1	6	31110480	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08	2636961	31110480	140004587	97	15927											
TAP2	6891	broad.mit.edu	37	chr6	32797314	32797314	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttcccttctcccctacatCtgaggaaatcagagaaattc	11	11	6	13	0	3	2	1	1	2	1	6	4	4	3	3	1	1	1	3	1	3	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:32797314C>G	ENST00000374897.2	-	11	1927		c.e11-1		TAP2_ENST00000374899.4_Splice_Site|TAP2_ENST00000452392.2_Splice_Site	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)						antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										TCCCCTACATCTGAGGAAATC	0.557													11	55					0	0	0	0	G	32797314	C	G	32797314	5	3	82	1	0	0	0	0	0	0	1	0	15642	927	32	2	358	2	TAP2	6	32797314	Splice_Site	SNP	C	TCGA-CN-5363-01A-01D-1434-08	1686834	32797314	138317753	98	15928											
TRERF1	55809	broad.mit.edu	37	chr6	42231259	42231259	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaggcggaggcggaggCggcagtggtggctggggctg	4	4	26	7	4	0	0	0	0	0	0	0	3	0	3	0	12	0	3	0	12	0	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:42231259C>A	ENST00000541110.1	-	8	2251	c.1683G>T	c.(1681-1683)ccG>ccT	p.P561P	TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372922.4_Silent_p.P561P|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000354325.2_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	561	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P561P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			gaggcggaggcggcagtggtg	0.637													12	36					4.26978e-12	4.9211e-12	1	0	A	42231259	C	A	42231259	2	1	82	1	0	0	0	0	0	0	0	1	16570	755	27	3		3	TRERF1	6	42231259	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	9433945	42231259	128883808	99	15929											
ZNF318	24149	broad.mit.edu	37	chr6	43306786	43306786	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatttccctagggccacCagagtttttgcaatgggctt	8	12	10	11	0	0	1	0	0	0	1	1	2	1	1	4	2	1	3	4	2	2	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:43306786C>A	ENST00000361428.2	-	10	5027	c.4950G>T	c.(4948-4950)ctG>ctT	p.L1650L	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1650					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTAGGGCCACCAGAGTTTTTG	0.493													80	208					1.43161e-34	1.92771e-34	1	0	A	43306786	C	A	43306786	2	1	82	1	0	0	0	0	0	0	0	1	17931	581	21	4		4	ZNF318	6	43306786	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	1075527	43306786	127808281	100	15930											
CDC5L	988	broad.mit.edu	37	chr6	44413419	44413419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcacatgacgacagaaGccaagagggctgcaaagatg	14	4	15	8	1	1	4	1	1	0	3	1	5	1	4	1	3	2	2	1	3	3	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:44413419G>T	ENST00000371477.3	+	15	2418	c.2119G>T	c.(2119-2121)Gcc>Tcc	p.A707S		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	707	Interaction with PLRG1.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GACGACAGAAGCCAAGAGGGC	0.443													6	53					3.59834e-05	3.85334e-05	1	0	T	44413419	G	T	44413419	3	4	82	1	0	0	0	0	1	0	0	0	3111	971	34	4	2177	4	CDC5L	6	44413419	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	1106633	44413419	126701648	101	15931											
RCAN2	10231	broad.mit.edu	37	chr6	46190997	46190997	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacacgtgcacgacgacacTtggggtggactcagtccctg	8	7	13	13	3	1	0	1	0	0	0	2	3	2	1	1	3	1	2	1	3	0	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:46190997T>A	ENST00000371374.1	-	5	804	c.613A>T	c.(613-615)Agt>Tgt	p.S205C	RCAN2_ENST00000405162.1_Missense_Mutation_p.S205C|RCAN2_ENST00000306764.7_Missense_Mutation_p.S205C|RCAN2_ENST00000330430.6_Missense_Mutation_p.S159C	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	159					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACGACGACACTTGGGGTGGAC	0.512													38	216					0	0	0	0	A	46190997	T	A	46190997	3	1	82	1	0	0	0	0	1	0	0	0	13251	1609	56	5	122	5	RCAN2	6	46190997	Missense_Mutation	SNP	T	TCGA-CN-5363-01A-01D-1434-08	1777578	46190997	124924070	102	15932											
ZNF451	26036	broad.mit.edu	37	chr6	57015556	57015556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagatttggattacctgcGaaccatgactcatatagtct	11	13	7	10	1	2	2	1	1	1	1	3	4	3	3	3	1	3	0	3	1	4	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:57015556G>T	ENST00000370706.4	+	11	2892	c.2648G>T	c.(2647-2649)cGa>cTa	p.R883L	RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000357489.3_Intron|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R883L|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATTACCTGCGAACCATGACT	0.358													58	174					2.40265e-35	3.25135e-35	1	0	T	57015556	G	T	57015556	3	4	82	1	0	0	0	0	1	0	0	0	18017	1058	37	3	2690	3	ZNF451	6	57015556	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	10824559	57015556	114099511	103	15933											
HTR1B	3351	broad.mit.edu	37	chr6	78172872	78172872	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcgatcaggtagttagcCggggtgtgcagtttccgggt	6	10	18	7	3	1	0	1	0	0	0	2	2	2	0	2	5	2	4	2	5	2	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:78172872C>A	ENST00000369947.2	-	1	618	c.249G>T	c.(247-249)ccG>ccT	p.P83P		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	83					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGTAGTTAGCCGGGGTGTGCA	0.582													48	198					1.23713e-20	1.59478e-20	1	0	A	78172872	C	A	78172872	2	1	82	1	0	0	0	0	0	0	0	1	7490	639	23	3		3	HTR1B	6	78172872	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	21157316	78172872	92942195	104	15934											
C6orf165	154313	broad.mit.edu	37	chr6	88140765	88140765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagaagatagagtaaatGtggcagatttcagaaaacta	17	12	9	3	0	1	5	1	0	0	5	1	5	1	5	0	1	1	2	0	1	8	6			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:88140765G>A	ENST00000507897.1	+	10	1257	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	C6ORF165_ENST00000369562.4_Missense_Mutation_p.V392M			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	392										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TAGAGTAAATGTGGCAGATTT	0.328													16	49					0	0	0	0	A	88140765	G	A	88140765	3	1	82	1	0	0	0	0	1	0	0	0	2362	1377	48	4	1208	4	C6orf165	6	88140765	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	9967893	88140765	82974302	105	15935											
UBE2J1	51465	broad.mit.edu	37	chr6	90052081	90052081	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtggtttcatgggatactCtggtggcagtactatccgcc	6	13	13	9	1	2	0	1	0	1	0	3	1	3	1	2	5	2	3	2	5	3	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:90052081C>G	ENST00000435041.2	-	3	477	c.199G>C	c.(199-201)Gag>Cag	p.E67Q		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	67						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		ATGGGATACTCTGGTGGCAGT	0.448													16	76					0	0	0	0	G	90052081	C	G	90052081	3	3	82	1	0	0	0	0	1	0	0	0	16956	922	32	2	781	2	UBE2J1	6	90052081	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	1911316	90052081	81062986	106	15936											
EPB41L2	2037	broad.mit.edu	37	chr6	131247798	131247798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagtagtctttctccaagaGattgaggtgttcacacactt	12	13	8	8	0	3	2	1	1	2	1	4	3	3	2	1	1	0	2	1	1	3	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:131247798G>C	ENST00000337057.3	-	4	938	c.757C>G	c.(757-759)Ctc>Gtc	p.L253V	EPB41L2_ENST00000529208.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000530481.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000445890.2_Missense_Mutation_p.L253V|EPB41L2_ENST00000525271.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000525193.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000368128.2_Missense_Mutation_p.L253V|EPB41L2_ENST00000527659.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000527411.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000528282.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000392427.3_Missense_Mutation_p.L253V	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	253	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTCTCCAAGAGATTGAGGTGT	0.323													74	128					0	0	0	0	C	131247798	G	C	131247798	3	2	82	1	0	0	0	0	1	0	0	0	5191	942	33	2	2324	2	EPB41L2	6	131247798	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	41195717	131247798	39867269	107	15937											
SHPRH	257218	broad.mit.edu	37	chr6	146267451	146267451	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctccaaaataatgtgaCggaataaaataattcaccac	17	11	4	9	1	1	1	1	1	0	0	3	2	3	2	3	1	0	0	3	1	7	5	rs140562619	by1000genomes	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:146267451C>T	ENST00000367503.3	-	7	1637	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	SHPRH_ENST00000367505.2_Silent_p.P413P|SHPRH_ENST00000275233.7_Silent_p.P413P|SHPRH_ENST00000438092.2_Silent_p.P413P	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	413					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATAATGTGACGGAATAAAAT	0.323													17	49					0	0	0	0	T	146267451	C	T	146267451	2	4	82	1	0	0	0	0	0	0	0	1	14379	523	19	1		1	SHPRH	6	146267451	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	15019653	146267451	24847616	108	15938											
SYNE1	23345	broad.mit.edu	37	chr6	152555059	152555059	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtactcagaacagatgAtttcagggaagattgggcat	13	10	11	7	0	2	4	2	1	0	3	3	5	3	5	1	2	2	2	1	2	3	3	rs34669584		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:152555059A>G	ENST00000367255.5	-	112	21170	c.20569T>C	c.(20569-20571)Tca>Cca	p.S6857P	SYNE1_ENST00000423061.1_Missense_Mutation_p.S6786P|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6469P|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1381P|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6786P|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6857P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6857					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAACAGATGATTTCAGGGAA	0.438										HNSCC(10;0.0054)			4	86					0	0	0	0	G	152555059	A	G	152555059	3	3	82	1	0	0	0	0	1	0	0	0	15536	333	12	5	6037	5	SYNE1	6	152555059	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	6287608	152555059	18560008	109	15939											
NOX3	50508	broad.mit.edu	37	chr6	155728305	155728305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgaactcattgttccaGttgggcctcccatagaaggt	8	13	10	10	0	1	2	1	1	0	1	3	2	3	2	3	2	2	3	3	2	3	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:155728305G>T	ENST00000159060.2	-	12	1641	c.1539C>A	c.(1537-1539)aaC>aaA	p.N513K		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	513							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CATTGTTCCAGTTGGGCCTCC	0.478													25	134					5.45024e-15	6.50204e-15	1	0	T	155728305	G	T	155728305	3	4	82	1	0	0	0	0	1	0	0	0	10627	1020	36	4	175	4	NOX3	6	155728305	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	3173246	155728305	15386762	110	15940											
MAP3K4	4216	broad.mit.edu	37	chr6	161519401	161519401	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgctgccagtcggcccAgcccctctggtggtgactct	3	11	12	15	1	2	1	0	1	2	0	3	1	2	1	4	3	3	2	4	3	0	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:161519401A>T	ENST00000392142.4	+	17	3764	c.3616A>T	c.(3616-3618)Agc>Tgc	p.S1206C	MAP3K4_ENST00000366920.2_Missense_Mutation_p.S1202C|MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366919.2_Intron	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1206					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CAGTCGGCCCAGCCCCTCTGG	0.627													21	128					0	0	0	0	T	161519401	A	T	161519401	3	4	82	1	0	0	0	0	1	0	0	0	9321	188	7	5	3682	5	MAP3K4	6	161519401	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	5791096	161519401	9595666	111	15941											
SUN3	256979	broad.mit.edu	37	chr7	48046766	48046766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcctcatccaggacctctGtgtggtccgggtcctccaca	6	10	10	15	1	2	0	1	0	1	0	6	1	6	1	6	3	1	0	6	3	1	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:48046766G>T	ENST00000453192.2	-	6	695	c.452C>A	c.(451-453)aCa>aAa	p.T151K	SUN3_ENST00000395572.2_Missense_Mutation_p.T163K|SUN3_ENST00000297325.4_Missense_Mutation_p.T163K|SUN3_ENST00000412142.1_Missense_Mutation_p.T63K			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	163						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGACCTCTGTGTGGTCCGG	0.552													26	75					5.45727e-16	6.62668e-16	1	0	T	48046766	G	T	48046766	3	4	82	1	0	0	0	0	1	0	0	0	15483	1377	48	4	609	4	SUN3	7	48046766	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08		48046766	111091897	112	15942											
SEPT14	346288	broad.mit.edu	37	chr7	55874869	55874869	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cattcatagtgctgagtgtgGgttttttcttttagattttc	6	21	9	5	0	2	2	1	1	1	1	3	2	2	2	0	1	1	2	0	1	2	9			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:55874869G>A	ENST00000388975.3	-	8	1016	c.900C>T	c.(898-900)acC>acT	p.T300T		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	300					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTGAGTGTGGGTTTTTTCTT	0.348													42	126					0	0	0	0	A	55874869	G	A	55874869	2	1	82	1	0	0	0	0	0	0	0	1	14150	1219	43	4		4	SEPT14	7	55874869	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08	7828103	55874869	103263794	113	15943											
WBSCR17	64409	broad.mit.edu	37	chr7	71177039	71177039	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagggcacgggacgctgcCtggaggtggagaaccggggc	9	3	19	10	3	0	1	0	0	0	1	0	4	0	3	2	7	2	2	2	7	2	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:71177039C>A	ENST00000333538.5	+	11	2339	c.1705C>A	c.(1705-1707)Ctg>Atg	p.L569M	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	569	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGACGCTGCCTGGAGGTGGA	0.577													55	193					1.80625e-27	2.4202e-27	1	0	A	71177039	C	A	71177039	3	1	82	1	0	0	0	0	1	0	0	0	17360	680	24	4	1747	4	WBSCR17	7	71177039	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	15302170	71177039	87961624	114	15944											
PCLO	27445	broad.mit.edu	37	chr7	82579984	82579984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaatcttttgctcctccAgctgctggtgaagctgttgt	5	14	11	11	1	1	1	0	1	1	0	3	2	3	1	3	1	4	5	3	1	2	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:82579984A>G	ENST00000423517.2	-	6	10257	c.9920T>C	c.(9919-9921)cTg>cCg	p.L3307P	PCLO_ENST00000333891.8_Missense_Mutation_p.L3307P|PCLO_ENST00000437081.1_Missense_Mutation_p.L27P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3238					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCTCCTCCAGCTGCTGGTG	0.502													40	166					0	0	0	0	G	82579984	A	G	82579984	3	3	82	1	0	0	0	0	1	0	0	0	11654	188	7	5	5605	5	PCLO	7	82579984	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	11402945	82579984	76558679	115	15945											
MOGAT3	346606	broad.mit.edu	37	chr7	100839228	100839228	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaaaggccgcggccaggccTagatgaaggtgaggcaggtg	10	4	18	9	3	0	3	0	2	0	1	0	4	0	3	3	6	0	1	3	6	3	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:100839228T>A	ENST00000223114.4	-	7	1191	c.1025A>T	c.(1024-1026)tAg>tTg	p.*342L	MOGAT3_ENST00000379423.3_Silent_p.L274L|MOGAT3_ENST00000440203.2_3'UTR	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	0					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CGGCCAGGCCTAGATGAAGGT	0.602													27	123					0	0	0	0	A	100839228	T	A	100839228	4	1	82	1	0	0	0	0	0	0	0	0	9766	1535	53	5	4	5	MOGAT3	7	100839228	Nonstop_Mutation	SNP	T	TCGA-CN-5363-01A-01D-1434-08	18259244	100839228	58299435	116	15946											
CUX1	1523	broad.mit.edu	37	chr7	101839913	101839913	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttgcccttccttgtaGggtcagccaggaggaaaggg	7	11	14	9	0	2	0	1	0	1	0	3	2	3	2	3	4	2	2	3	4	2	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:101839913G>A	ENST00000360264.3	+	15	1275		c.e15-1		CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000550008.2_Splice_Site|CUX1_ENST00000549414.2_Splice_Site|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Intron|CUX1_ENST00000292535.7_Splice_Site|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1						negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTTCCTTGTAGGGTCAGCCAG	0.552													35	135					0	0	0	0	A	101839913	G	A	101839913	5	1	82	1	0	0	0	0	0	0	1	0	4096	1014	35	4	1347	4	CUX1	7	101839913	Splice_Site	SNP	G	TCGA-CN-5363-01A-01D-1434-08	1000685	101839913	57298750	117	15947											
CTTNBP2	83992	broad.mit.edu	37	chr7	117407111	117407111	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagctctgaacatcactcActcagattctccagcaaatg	14	10	5	12	0	5	2	3	1	2	1	6	2	5	2	1	0	3	2	1	0	3	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:117407111A>C	ENST00000160373.3	-	9	2988		c.e9+1			NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2											breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AACATCACTCACTCAGATTCT	0.458													28	108					0	0	0	0	C	117407111	A	C	117407111	5	2	82	1	0	0	0	0	0	0	1	0	4077	173	6	5	2153	5	CTTNBP2	7	117407111	Splice_Site	SNP	A	TCGA-CN-5363-01A-01D-1434-08	15567198	117407111	41731552	118	15948											
PTPRZ1	5803	broad.mit.edu	37	chr7	121699858	121699858	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctctgacaacccttatgcaCcaactagaaaaagaaaattc	17	8	5	11	0	1	3	0	1	1	2	2	3	1	3	2	0	3	2	2	0	8	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:121699858C>T	ENST00000393386.2	+	29	7134	c.6723C>T	c.(6721-6723)caC>caT	p.H2241H	PTPRZ1_ENST00000449182.1_Silent_p.H1374H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2241	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCCTTATGCACCAACTAGAAA	0.428													52	148					0	0	0	0	T	121699858	C	T	121699858	2	4	82	1	0	0	0	0	0	0	0	1	12896	506	18	4		4	PTPRZ1	7	121699858	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	4292747	121699858	37438805	119	15949											
CALD1	800	broad.mit.edu	37	chr7	134635184	134635184	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagcagaagctgctgagaaAcgccagaagatgccagaaga	17	3	13	8	1	0	7	0	1	0	7	0	8	0	7	2	0	5	3	2	0	4	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:134635184A>G	ENST00000361388.2	+	9	1633	c.1167A>G	c.(1165-1167)aaA>aaG	p.K389K	CALD1_ENST00000361901.2_Silent_p.K363K|CALD1_ENST00000417172.1_Silent_p.K363K|CALD1_ENST00000393118.2_Silent_p.K383K|CALD1_ENST00000495522.1_Silent_p.K383K|CALD1_ENST00000424922.1_Silent_p.K357K|CALD1_ENST00000543443.1_Silent_p.K368K|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000422748.1_Silent_p.K389K|CALD1_ENST00000361675.2_Silent_p.K618K	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	618					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CTGCTGAGAAACGCCAGAAGA	0.433													36	68					0	0	0	0	G	134635184	A	G	134635184	2	3	82	1	0	0	0	0	0	0	0	1	2606	40	2	5		5	CALD1	7	134635184	Silent	SNP	A	TCGA-CN-5363-01A-01D-1434-08	12935326	134635184	24503479	120	15950											
CNTNAP2	26047	broad.mit.edu	37	chr7	146471453	146471453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagctattctcccggctatgCcaagataaacaagagaggag	14	8	10	9	1	1	2	0	0	1	2	2	4	1	3	2	2	3	2	2	2	7	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:146471453C>A	ENST00000361727.3	+	2	704	c.188C>A	c.(187-189)gCc>gAc	p.A63D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	63	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCCGGCTATGCCAAGATAAAC	0.368										HNSCC(39;0.1)			23	43					1.64293e-13	1.93454e-13	1	0	A	146471453	C	A	146471453	3	1	82	1	0	0	0	0	1	0	0	0	3677	739	26	4	194	4	CNTNAP2	7	146471453	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	11836269	146471453	12667210	121	15951											
DLC1	10395	broad.mit.edu	37	chr8	12955928	12955930	+	In_Frame_Del	DEL	AGA	AGA	-																															cagctaaaaccatgcttgttAgaaggtgtgtatttctccag																										TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:12955928_12955930delAGA	ENST00000276297.4	-	10	3554_3556	c.3145_3147delTCT	c.(3145-3147)del	p.S1049del	DLC1_ENST00000512044.2_In_Frame_Del_p.S646del|DLC1_ENST00000520226.1_In_Frame_Del_p.S538del|DLC1_ENST00000358919.2_In_Frame_Del_p.S612del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1049					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CATGCTTGTTAGAAGGTGTGTAT	0.424													51	159	---	---	---	---					-	12955930	AGA	-	12955928	7	5	82	1	0	1	0	1	0	0	0	0	4587	407	15	0	1475	0	DLC1	8	12955928	In_Frame_Del	DEL	AGA	TCGA-CN-5363-01A-01D-1434-08		12955928	133408094	122	15952											
INTS10	55174	broad.mit.edu	37	chr8	19701638	19701638	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcattggggcatgtgattGtgttgcttcagcaagagtgg	7	13	16	5	0	1	2	1	1	0	1	1	2	1	2	0	4	2	5	0	4	1	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:19701638G>C	ENST00000397977.3	+	15	2169	c.1771G>C	c.(1771-1773)Gtg>Ctg	p.V591L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	591					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GCATGTGATTGTGTTGCTTCA	0.418													28	70					0	0	0	0	C	19701638	G	C	19701638	3	2	82	1	0	0	0	0	1	0	0	0	7829	1377	48	4	1829	4	INTS10	8	19701638	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	6745710	19701638	126662384	123	15953											
ST18	9705	broad.mit.edu	37	chr8	53071483	53071483	+	Frame_Shift_Del	DEL	T	T	-																															catgcagactctgtggcttgTtggagaggatgtctgtggct																										TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:53071483delT	ENST00000276480.7	-	15	2464	c.1781delA	c.(1780-1782)acfs	p.N594fs		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	594						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTGTGGCTTGTTGGAGAGGAT	0.542													27	340	---	---	---	---					-	53071483	T	-	53071483	7	5	82	1	0	1	0	1	0	0	0	0	15302	1725	60	0	1410	0	ST18	8	53071483	Frame_Shift_Del	DEL	T	TCGA-CN-5363-01A-01D-1434-08	33369845	53071483	93292539	124	15954											
MTFR1	9650	broad.mit.edu	37	chr8	66582207	66582207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcttggctggattaagcGcctaattaggatggtttttc	9	15	11	6	1	0	0	0	0	0	0	1	2	0	2	1	4	2	3	1	4	4	6			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:66582207G>T	ENST00000262146.4	+	2	146	c.20G>T	c.(19-21)cGc>cTc	p.R7L	MTFR1_ENST00000458689.2_Missense_Mutation_p.R7L|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	7						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TGGATTAAGCGCCTAATTAGG	0.368													23	205					8.24728e-16	9.97005e-16	1	0	T	66582207	G	T	66582207	3	4	82	1	0	0	0	0	1	0	0	0	9995	1087	38	3	22	3	MTFR1	8	66582207	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	13510724	66582207	79781815	125	15955											
JPH1	56704	broad.mit.edu	37	chr8	75233214	75233214	+	Frame_Shift_Del	DEL	G	G	-																															caggtaccctcgtagcgagcGggggtgcacaggctctgccg																								rs79761162	byFrequency	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:75233214delG	ENST00000342232.4	-	1	349	c.309delC	c.(307-309)ccfs	p.P103fs		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	103	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGTAGCGAGCGGGGGTGCACA	0.677													43	78	---	---	---	---					-	75233214	G	-	75233214	7	5	82	1	0	1	0	1	0	0	0	0	8013	1103	39	0	1696	0	JPH1	8	75233214	Frame_Shift_Del	DEL	G	TCGA-CN-5363-01A-01D-1434-08	8651007	75233214	71130808	126	15956											
CSMD3	114788	broad.mit.edu	37	chr8	113237020	113237020	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataccattgtgcaaaccgTgttcaagttgggatcaaatc	12	13	8	8	1	2	0	2	0	0	0	3	1	2	1	2	1	3	3	2	1	5	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:113237020T>C	ENST00000297405.5	-	71	11348	c.11104A>G	c.(11104-11106)Acg>Gcg	p.T3702A	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3632A|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3662A|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3533A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3702						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGCAAACCGTGTTCAAGTTG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			134	262					0	0	0	0	C	113237020	T	C	113237020	3	2	82	1	0	0	0	0	1	0	0	0	3978	1696	59	5	23	5	CSMD3	8	113237020	Missense_Mutation	SNP	T	TCGA-CN-5363-01A-01D-1434-08	38003806	113237020	33127002	127	15957											
CSMD3	114788	broad.mit.edu	37	chr8	113256623	113256623	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attctatagagaaaacttacCttcacaaatgggaacttttc	15	13	5	8	0	2	1	1	0	1	1	3	3	2	2	1	1	3	0	1	1	7	7			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:113256623C>T	ENST00000297405.5	-	65	10646	c.10402_splice	c.e65+1	p.A3468_splice	CSMD3_ENST00000352409.3_Splice_Site_p.A3398_splice|CSMD3_ENST00000343508.3_Splice_Site_p.A3428_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A3299_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3468	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAAACTTACCTTCACAAATG	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	161					0	0	0	0	T	113256623	C	T	113256623	5	4	82	1	0	0	0	0	0	0	1	0	3978	695	24	4	749	4	CSMD3	8	113256623	Splice_Site	SNP	C	TCGA-CN-5363-01A-01D-1434-08	19603	113256623	33107399	128	15958											
CSMD3	114788	broad.mit.edu	37	chr8	113395847	113395847	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctcccccatcataaaagtCcagagaatcccaattatgtt	13	11	5	12	0	2	1	1	0	1	1	5	2	4	1	4	0	0	1	4	0	5	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:113395847C>A	ENST00000297405.5	-	37	6224	c.5980G>T	c.(5980-5982)Gac>Tac	p.D1994Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.D1924Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1954Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1890Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1994	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCATAAAAGTCCAGAGAATCC	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			45	109					1.66251e-12	1.92426e-12	1	0	A	113395847	C	A	113395847	3	1	82	1	0	0	0	0	1	0	0	0	3978	855	30	2	5283	2	CSMD3	8	113395847	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	139224	113395847	32968175	129	15959											
TMEM71	137835	broad.mit.edu	37	chr8	133723206	133723206	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcatcgaaggcattcctaaAtggttgtcaaattttgacaa	13	14	7	7	1	2	1	2	1	0	0	4	2	3	1	1	2	0	2	1	2	5	6			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:133723206A>G	ENST00000523829.1	-	9	958	c.837T>C	c.(835-837)caT>caC	p.H279H	TMEM71_ENST00000377901.4_3'UTR|TMEM71_ENST00000356838.3_3'UTR			Q6P5X7	TMM71_HUMAN	transmembrane protein 71	0						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCATTCCTAAATGGTTGTCAA	0.383													56	165					0	0	0	0	G	133723206	A	G	133723206	2	3	82	1	0	0	0	0	0	0	0	1	16294	116	4	5		5	TMEM71	8	133723206	Silent	SNP	A	TCGA-CN-5363-01A-01D-1434-08	20327359	133723206	12640816	130	15960											
FAM135B	51059	broad.mit.edu	37	chr8	139144990	139144990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggattaaagtgcagtccttgGcttcaaccagagggcccagg	10	8	13	10	0	1	1	1	0	0	1	2	2	2	2	3	4	2	2	3	4	3	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:139144990G>A	ENST00000395297.1	-	20	4237	c.4067C>T	c.(4066-4068)gCc>gTc	p.A1356V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1356										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCAGTCCTTGGCTTCAACCAG	0.537										HNSCC(54;0.14)			96	513					0	0	0	0	A	139144990	G	A	139144990	3	1	82	1	0	0	0	0	1	0	0	0	5490	1203	42	4	157	4	FAM135B	8	139144990	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	5421784	139144990	7219032	131	15961											
FAM135B	51059	broad.mit.edu	37	chr8	139153488	139153488	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagggttcccaggtgaggcCcagagagtgacaggaacgtg	11	5	16	9	1	0	3	0	2	0	1	1	5	1	4	2	4	1	1	2	4	1	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:139153488C>G	ENST00000395297.1	-	17	3913	c.3743G>C	c.(3742-3744)gGg>gCg	p.G1248A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1248										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGTGAGGCCCAGAGAGTGA	0.522										HNSCC(54;0.14)			20	108					0	0	0	0	G	139153488	C	G	139153488	3	3	82	1	0	0	0	0	1	0	0	0	5490	623	22	4	493	4	FAM135B	8	139153488	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	8498	139153488	7210534	132	15962											
FAM135B	51059	broad.mit.edu	37	chr8	139165358	139165358	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtcttccctaaaagataAattgctatttaccatacagt	15	13	5	8	0	1	1	0	0	1	1	2	1	2	1	2	1	3	1	2	1	8	8			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:139165358A>T	ENST00000395297.1	-	13	1530	c.1360T>A	c.(1360-1362)Tta>Ata	p.L454I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	454										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTAAAAGATAAATTGCTATTT	0.373										HNSCC(54;0.14)			31	127					0	0	0	0	T	139165358	A	T	139165358	3	4	82	1	0	0	0	0	1	0	0	0	5490	11	1	5	2892	5	FAM135B	8	139165358	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	11870	139165358	7198664	133	15963											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777172	18777172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgaggaagaggtgcttgCggggaggaagggcggcccga	10	4	21	6	3	0	2	0	1	0	1	0	6	0	5	1	7	2	1	1	7	3	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:18777172C>T	ENST00000380548.4	+	19	3284	c.2945C>T	c.(2944-2946)gCg>gTg	p.A982V		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	982						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GAGGTGCTTGCGGGGAGGAAG	0.672													10	184					0	0	0	0	T	18777172	C	T	18777172	3	4	82	1	0	0	0	0	1	0	0	0	274	768	27	1	3023	1	ADAMTSL1	9	18777172	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08		18777172	122436259	134	15964											
STOML2	30968	broad.mit.edu	37	chr9	35100719	35100719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcagtgaagctgctgcatctCcattctgtgatcacaggggg	8	11	12	10	0	4	2	2	2	2	0	5	2	4	2	1	2	3	3	1	2	1	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:35100719C>G	ENST00000356493.5	-	9	871	c.809G>C	c.(808-810)gGa>gCa	p.G270A	STOML2_ENST00000452248.2_Missense_Mutation_p.G225A	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	270						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGCTGCATCTCCATTCTGTGA	0.512													12	207					0	0	0	0	G	35100719	C	G	35100719	3	3	82	1	0	0	0	0	1	0	0	0	15404	855	30	2	269	2	STOML2	9	35100719	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	16323547	35100719	106112712	135	15965											
TLN1	7094	broad.mit.edu	37	chr9	35717216	35717216	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcctggtcataacggccAgcaggcccagcccctgtggc	7	6	13	15	1	1	0	1	0	0	0	1	0	1	0	5	4	4	2	5	4	2	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:35717216A>T	ENST00000314888.9	-	19	2738	c.2385T>A	c.(2383-2385)gcT>gcA	p.A795A	TLN1_ENST00000540444.1_Silent_p.A795A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	795					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATAACGGCCAGCAGGCCCAG	0.567													26	44					0	0	0	0	T	35717216	A	T	35717216	2	4	82	1	0	0	0	0	0	0	0	1	16041	175	7	5		5	TLN1	9	35717216	Silent	SNP	A	TCGA-CN-5363-01A-01D-1434-08	616497	35717216	105496215	136	15966											
PGM5	5239	broad.mit.edu	37	chr9	71002394	71002394	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagtggagatagtggaccCagtggatatctatcttaacc	11	13	10	7	0	2	1	0	0	2	1	2	4	2	3	2	3	1	0	2	3	5	6			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:71002394C>A	ENST00000396396.1	+	4	816	c.587C>A	c.(586-588)cCa>cAa	p.P196Q	PGM5_ENST00000396392.1_Missense_Mutation_p.P196Q|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	196					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATAGTGGACCCAGTGGATATC	0.413													89	177					8.98033e-41	1.22746e-40	1	0	A	71002394	C	A	71002394	3	1	82	1	0	0	0	0	1	0	0	0	11873	594	21	4	601	4	PGM5	9	71002394	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	35285178	71002394	70211037	137	15967											
VPS13A	23230	broad.mit.edu	37	chr9	79959184	79959184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaattgtattctattgcGtctagataacgaggtaagtt	13	14	10	4	2	2	1	0	0	2	1	2	3	2	2	0	2	2	3	0	2	7	9			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:79959184G>T	ENST00000360280.3	+	51	7402	c.7142G>T	c.(7141-7143)cGt>cTt	p.R2381L	VPS13A_ENST00000357409.5_Missense_Mutation_p.R2381L|VPS13A_ENST00000376634.4_Missense_Mutation_p.R2381L|VPS13A_ENST00000376636.3_Missense_Mutation_p.R2342L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2381					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTCTATTGCGTCTAGATAAC	0.299													72	89					9.98788e-38	1.35835e-37	1	0	T	79959184	G	T	79959184	3	4	82	1	0	0	0	0	1	0	0	0	17285	1145	40	3	7344	3	VPS13A	9	79959184	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	8956790	79959184	61254247	138	15968											
KLF4	9314	broad.mit.edu	37	chr9	110250031	110250031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggctgcggctgctgcGgcggaatgtacaccgggtcc	4	7	17	13	5	0	0	0	0	0	0	1	1	1	1	2	6	4	4	2	6	2	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:110250031G>A	ENST00000374672.4	-	3	1117	c.644C>T	c.(643-645)cCg>cTg	p.P215L		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	215	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CGGCTGCTGCGGCGGAATGTA	0.687													6	5					0	0	0	0	A	110250031	G	A	110250031	3	1	82	1	0	0	0	0	1	0	0	0	8400	1116	39	1	807	1	KLF4	9	110250031	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	30290847	110250031	30963400	139	15969											
ZNF483	158399	broad.mit.edu	37	chr9	114289921	114289921	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcaatcagtggctgagAccagacattcacacgaaaga	14	7	9	11	1	3	3	2	1	1	3	3	5	3	3	1	1	1	2	1	1	2	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:114289921A>G	ENST00000309235.5	+	2	404	c.246A>G	c.(244-246)agA>agG	p.R82R	ZNF483_ENST00000358151.4_Silent_p.R82R|ZNF483_ENST00000355824.3_Silent_p.R82R|ZNF483_ENST00000374374.3_Silent_p.R82R	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	82	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AGTGGCTGAGACCAGACATTC	0.468													63	76					0	0	0	0	G	114289921	A	G	114289921	2	3	82	1	0	0	0	0	0	0	0	1	18031	272	10	5		5	ZNF483	9	114289921	Silent	SNP	A	TCGA-CN-5363-01A-01D-1434-08	4039890	114289921	26923510	140	15970											
URM1	81605	broad.mit.edu	37	chr9	131140339	131140339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcggagctcctgtttgaCggtattaagaaacatcgagt	10	11	13	7	3	0	2	0	1	0	1	2	4	1	3	1	3	3	3	1	3	3	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:131140339C>T	ENST00000372847.1	+	2	111	c.101C>T	c.(100-102)aCg>aTg	p.T34M	URM1_ENST00000372850.1_Silent_p.D20D|URM1_ENST00000452446.1_Silent_p.D20D|URM1_ENST00000372853.4_Silent_p.D20D			Q9BTM9	URM1_HUMAN	ubiquitin related modifier 1	0					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						TCCTGTTTGACGGTATTAAGA	0.507													17	148					0	0	0	0	T	131140339	C	T	131140339	3	4	82	1	0	0	0	0	1	0	0	0	17123	535	19	1	66	1	URM1	9	131140339	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	16850418	131140339	10073092	141	15971											
NOTCH1	4851	broad.mit.edu	37	chr9	139395007	139395008	+	Frame_Shift_Ins	INS	-	-	A																															ggcagccactgcctacctggINSaagacaccttgtgcgtcggc																										TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:139395007_139395008insA	ENST00000277541.6	-	31	6005_6006	c.5930_5931insT	c.(5929-5931)tcafs	p.S1977fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1977					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCCTACCTGGAAGACACCTTG	0.683			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			67	65	---	---	---	---					A	139395008	-	A	139395007	7	5	82	1	0	1	1	0	0	0	0	0	10617	1165	41	0	1752	0	NOTCH1	9	139395007	Frame_Shift_Ins	INS	-	TCGA-CN-5363-01A-01D-1434-08	8254668	139395007	1818424	142	15972											
PLCE1	51196	broad.mit.edu	37	chr10	95791310	95791310	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagtcctttaggaaatcaGtcagtgatcatagagacagg	14	11	10	6	0	3	2	3	1	0	1	4	4	4	3	1	2	0	0	1	2	4	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:95791310G>A	ENST00000260766.3	+	2	1141	c.507G>A	c.(505-507)caG>caA	p.Q169Q	PLCE1_ENST00000371380.2_Silent_p.Q169Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	169					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAGGAAATCAGTCAGTGATCA	0.428													62	80					0	0	0	0	A	95791310	G	A	95791310	2	1	82	1	0	0	0	0	0	0	0	1	12106	1020	36	4		4	PLCE1	10	95791310	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08		95791310	39743437	143	15973											
SORCS3	22986	broad.mit.edu	37	chr10	106924096	106924096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctcatatactgatattGgtgtgttcatctcctccgat	8	16	7	10	1	3	1	2	1	2	0	6	2	4	1	2	1	2	2	2	1	3	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:106924096G>A	ENST00000369701.3	+	12	1995	c.1768G>A	c.(1768-1770)Ggt>Agt	p.G590S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	590						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TACTGATATTGGTGTGTTCAT	0.448													32	45					0	0	0	0	A	106924096	G	A	106924096	3	1	82	1	0	0	0	0	1	0	0	0	15020	1348	47	4	1814	4	SORCS3	10	106924096	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	11132786	106924096	28610651	144	15974											
FAM160B1	57700	broad.mit.edu	37	chr10	116602933	116602933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcctcggttgtttgtcCaaatcaggattacaatttag	11	13	10	7	1	1	1	1	0	0	1	3	2	2	2	2	3	1	2	2	3	4	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:116602933C>T	ENST00000369248.4	+	6	1099	c.764C>T	c.(763-765)cCa>cTa	p.P255L	FAM160B1_ENST00000369250.3_Missense_Mutation_p.P255L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	255										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GTTGTTTGTCCAAATCAGGAT	0.413													64	111					0	0	0	0	T	116602933	C	T	116602933	3	4	82	1	0	0	0	0	1	0	0	0	5511	594	21	4	786	4	FAM160B1	10	116602933	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	9678837	116602933	18931814	145	15975											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118351941	118351941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcacagattctcctcctctCtgatccatcaacaattgagg	10	12	6	13	0	4	3	2	2	2	1	8	3	6	3	3	1	1	0	3	1	2	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:118351941C>T	ENST00000528052.1	+	4	289	c.218C>T	c.(217-219)tCt>tTt	p.S73F	PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.S73F|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S73F|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S73F			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	73					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CTCCTCCTCTCTGATCCATCA	0.493													76	107					0	0	0	0	T	118351941	C	T	118351941	3	4	82	1	0	0	0	0	1	0	0	0	12222	913	32	2	228	2	PNLIPRP1	10	118351941	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	1749008	118351941	17182806	146	15976											
DMBT1	1755	broad.mit.edu	37	chr10	124339305	124339305	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggctcaggacccattgtCctggatgatgtgcgctgctc	6	10	13	12	1	1	1	1	1	0	0	3	3	2	3	2	3	2	3	2	3	0	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:124339305C>A	ENST00000368909.3	+	10	997	c.891C>A	c.(889-891)gtC>gtA	p.V297V	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Silent_p.V297V|DMBT1_ENST00000344338.3_Silent_p.V297V|DMBT1_ENST00000368955.3_Silent_p.V297V|DMBT1_ENST00000368956.2_Silent_p.V297V|DMBT1_ENST00000338354.3_Silent_p.V297V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	297	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACCCATTGTCCTGGATGATG	0.597													121	153					2.98534e-63	4.18563e-63	1	0	A	124339305	C	A	124339305	2	1	82	1	0	0	0	0	0	0	0	1	4614	842	30	2		2	DMBT1	10	124339305	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	5987364	124339305	11195442	147	15977											
DMBT1	1755	broad.mit.edu	37	chr10	124351999	124351999	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctcaggacccattgtTctggatgatgtgcgctgctc	6	11	13	11	1	2	1	1	1	1	0	3	3	2	3	1	3	2	4	1	3	0	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:124351999T>A	ENST00000368909.3	+	20	2494	c.2388T>A	c.(2386-2388)gtT>gtA	p.V796V	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000344338.3_Silent_p.V786V|DMBT1_ENST00000368955.3_Silent_p.V786V|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000338354.3_Silent_p.V796V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	796	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACCCATTGTTCTGGATGATG	0.602													7	283					0	0	0	0	A	124351999	T	A	124351999	2	1	82	1	0	0	0	0	0	0	0	1	4614	1770	62	5		5	DMBT1	10	124351999	Silent	SNP	T	TCGA-CN-5363-01A-01D-1434-08	12694	124351999	11182748	148	15978											
OR52K2	119774	broad.mit.edu	37	chr11	4471232	4471232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgttatcctgtcttatatCtttattcttcaggcagttct	6	21	5	9	0	5	0	1	0	4	0	6	0	6	0	1	1	0	3	1	1	4	9			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:4471232C>G	ENST00000325719.4	+	1	708	c.663C>G	c.(661-663)atC>atG	p.I221M		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCTTATATCTTTATTCTTC	0.483													114	189					0	0	0	0	G	4471232	C	G	4471232	3	3	82	1	0	0	0	0	1	0	0	0	11195	903	32	2	665	2	OR52K2	11	4471232	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08		4471232	130535284	149	15979											
TRIM22	10346	broad.mit.edu	37	chr11	5730848	5730848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatccttggaactgcctagtCcccatgactgtgtgcccacc	8	10	8	15	0	0	1	0	1	0	0	2	2	2	2	6	1	3	0	6	1	3	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:5730848C>T	ENST00000379965.3	+	8	1744	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	489	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		ACTGCCTAGTCCCCATGACTG	0.483													51	131					0	0	0	0	T	5730848	C	T	5730848	2	4	82	1	0	0	0	0	0	0	0	1	16591	842	30	2		2	TRIM22	11	5730848	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	1259616	5730848	129275668	150	15980											
STK33	65975	broad.mit.edu	37	chr11	8435138	8435138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagtggacggcttattCttctcttctgttgtgttttc	3	21	8	9	1	5	0	1	0	4	0	7	1	5	1	0	2	0	3	0	2	1	8			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:8435138C>A	ENST00000447869.1	-	11	2166	c.1248G>T	c.(1246-1248)aaG>aaT	p.K416N	STK33_ENST00000315204.1_Missense_Mutation_p.K416N|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_Missense_Mutation_p.K416N|STK33_ENST00000396673.1_Intron|STK33_ENST00000534493.1_Missense_Mutation_p.K375N|STK33_ENST00000358872.3_Missense_Mutation_p.K229N			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	416						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ACGGCTTATTCTTCTCTTCTG	0.403													104	220					7.34945e-47	1.00962e-46	1	0	A	8435138	C	A	8435138	3	1	82	1	0	0	0	0	1	0	0	0	15390	912	32	2	304	2	STK33	11	8435138	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	2704290	8435138	126571378	151	15981											
TMEM86A	144110	broad.mit.edu	37	chr11	18723384	18723386	+	In_Frame_Del	DEL	TCT	TCT	-																															ggcagctggcagtggtgcacTcttctttatcatctcagacc																										TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:18723384_18723386delTCT	ENST00000280734.2	+	3	647_649	c.551_553delTCT	c.(550-555)ctc>c	p.LF184del		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	184						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						AGTGGTGCACTCTTCTTTATCAT	0.586													32	69	---	---	---	---					-	18723386	TCT	-	18723384	7	5	82	1	0	1	0	1	0	0	0	0	16302	1551	54	0	561	0	TMEM86A	11	18723384	In_Frame_Del	DEL	TCT	TCGA-CN-5363-01A-01D-1434-08	10288246	18723384	116283132	152	15982											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077130	19077130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtaaatgatggggttggCactgctgttaagagatgaca	13	10	14	4	0	0	3	0	2	0	1	0	5	0	3	0	3	1	5	0	3	4	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:19077130C>T	ENST00000329773.2	-	2	907	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	274					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ATGGGGTTGGCACTGCTGTTA	0.473													36	81					0	0	0	0	T	19077130	C	T	19077130	3	4	82	1	0	0	0	0	1	0	0	0	9837	710	25	4	176	4	MRGPRX2	11	19077130	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	353746	19077130	115929386	153	15983											
CCDC73	493860	broad.mit.edu	37	chr11	32781750	32781750	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctgaagaactttgaagagTaaaagtagatgatgactcag	16	10	10	5	0	2	7	1	4	1	3	2	7	2	7	0	0	1	2	0	0	6	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:32781750T>A	ENST00000531481.1	-	2	316	c.40A>T	c.(40-42)Act>Tct	p.T14S	CCDC73_ENST00000335185.5_Missense_Mutation_p.T14S|CCDC73_ENST00000534415.1_5'UTR			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	14										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CTTTGAAGAGTAAAAGTAGAT	0.299													55	124					0	0	0	0	A	32781750	T	A	32781750	3	1	82	1	0	0	0	0	1	0	0	0	2873	1638	57	5	3267	5	CCDC73	11	32781750	Missense_Mutation	SNP	T	TCGA-CN-5363-01A-01D-1434-08	13704620	32781750	102224766	154	15984											
OR4C12	283093	broad.mit.edu	37	chr11	50003946	50003946	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagtgttatcatgtaaagaAccaaaaatactacaaacgtg	20	9	6	6	1	1	1	1	0	0	1	1	1	1	1	1	0	4	2	1	0	10	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:50003946A>C	ENST00000335238.4	-	1	125	c.92T>G	c.(91-93)gTt>gGt	p.V31G		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CATGTAAAGAACCAAAAATAC	0.413													38	84					0	0	0	0	C	50003946	A	C	50003946	3	2	82	1	0	0	0	0	1	0	0	0	11117	43	2	5	841	5	OR4C12	11	50003946	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	17222196	50003946	85002570	155	15985											
OR5L2	26338	broad.mit.edu	37	chr11	55595068	55595068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctatgaccgctttgtggCcatctgtaaccccctgctgt	5	12	10	14	1	1	1	0	1	1	0	1	1	1	1	5	2	2	3	5	2	2	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:55595068C>T	ENST00000378397.1	+	1	374	c.374C>T	c.(373-375)gCc>gTc	p.A125V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CGCTTTGTGGCCATCTGTAAC	0.527										HNSCC(27;0.073)			81	248					0	0	0	0	T	55595068	C	T	55595068	3	4	82	1	0	0	0	0	1	0	0	0	11242	739	26	4	376	4	OR5L2	11	55595068	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	5591122	55595068	79411448	156	15986											
OR5J2	282775	broad.mit.edu	37	chr11	55944902	55944902	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagtattttgtggaacAagagaaagtggtttctatgt	11	14	10	6	0	1	1	0	0	1	1	2	3	2	2	1	2	1	2	1	2	5	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:55944902A>C	ENST00000312298.1	+	1	809	c.809A>C	c.(808-810)cAa>cCa	p.Q270P		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTTGTGGAACAAGAGAAAGTG	0.438													28	138					0	0	0	0	C	55944902	A	C	55944902	3	2	82	1	0	0	0	0	1	0	0	0	11236	130	5	5	811	5	OR5J2	11	55944902	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	349834	55944902	79061614	157	15987											
SPTBN2	6712	broad.mit.edu	37	chr11	66460712	66460712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcccatccaggcctccGcctcggcggcatcgcggtag	4	6	13	18	6	0	0	0	0	0	0	5	0	2	0	5	4	0	3	5	4	1	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:66460712G>A	ENST00000533211.1	-	24	5130	c.4799C>T	c.(4798-4800)gCg>gTg	p.A1600V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1600V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1600V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1600					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCAGGCCTCCGCCTCGGCGGC	0.622													32	111					0	0	0	0	A	66460712	G	A	66460712	3	1	82	1	0	0	0	0	1	0	0	0	15210	1087	38	1	2433	1	SPTBN2	11	66460712	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	10515810	66460712	68545804	158	15988											
TMEM135	65084	broad.mit.edu	37	chr11	86802426	86802426	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagggctgctcacaatttatAtggccaacttggtaagtatt	11	13	10	7	0	1	0	1	0	0	0	1	1	1	0	1	3	2	4	1	3	6	7			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:86802426A>T	ENST00000340353.7	+	4	587	c.385A>T	c.(385-387)Atg>Ttg	p.M129L	TMEM135_ENST00000535167.1_Intron|TMEM135_ENST00000305494.5_Missense_Mutation_p.M129L|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000355734.4_Missense_Mutation_p.M129L	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	129						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CACAATTTATATGGCCAACTT	0.279													34	55					0	0	0	0	T	86802426	A	T	86802426	3	4	82	1	0	0	0	0	1	0	0	0	16145	449	16	5	399	5	TMEM135	11	86802426	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	20341714	86802426	48204090	159	15989											
PZP	5858	broad.mit.edu	37	chr12	9310409	9310409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcaatagtaacataggcgGagagggtcgcttcatcttct	10	10	13	8	2	3	1	1	0	2	1	4	2	3	1	0	4	1	3	0	4	4	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:9310409G>T	ENST00000261336.2	-	27	3351	c.3323C>A	c.(3322-3324)tCc>tAc	p.S1108Y	PZP_ENST00000381997.2_Missense_Mutation_p.S894Y	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AACATAGGCGGAGAGGGTCGC	0.428													16	57					2.48551e-13	2.90153e-13	1	0	T	9310409	G	T	9310409	3	4	82	1	0	0	0	0	1	0	0	0	12951	1174	41	2	1165	2	PZP	12	9310409	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08		9310409	124541486	160	15990											
STK38L	23012	broad.mit.edu	37	chr12	27467947	27467947	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttactggatttttttttaGggtcatgtaaaattatctga	10	21	7	3	0	2	1	1	1	1	0	2	2	2	2	0	2	1	1	0	2	5	9			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:27467947G>A	ENST00000389032.3	+	8	841		c.e8-1		STK38L_ENST00000539577.1_Splice_Site	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like						intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TTTTTTTTTAGGGTCATGTAA	0.289													4	109					0	0	0	0	A	27467947	G	A	27467947	5	1	82	1	0	0	0	0	0	0	1	0	15394	1014	35	4	698	4	STK38L	12	27467947	Splice_Site	SNP	G	TCGA-CN-5363-01A-01D-1434-08	18157538	27467947	106383948	161	15991											
SLC2A13	114134	broad.mit.edu	37	chr12	40258621	40258621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattggcttaaaagtgatgCgtggggaaacttgggctgat	10	12	14	5	1	0	2	0	2	0	0	0	3	0	3	0	4	2	2	0	4	4	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:40258621C>G	ENST00000280871.4	-	6	1312	c.1262G>C	c.(1261-1263)cGc>cCc	p.R421P		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	421						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				AAAAGTGATGCGTGGGGAAAC	0.408										HNSCC(50;0.14)			28	148					0	0	0	0	G	40258621	C	G	40258621	3	3	82	1	0	0	0	0	1	0	0	0	14630	768	27	3	704	3	SLC2A13	12	40258621	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	12790674	40258621	93593274	162	15992											
SPATS2	65244	broad.mit.edu	37	chr12	49883256	49883256	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcttttccagataaatgcGgtacgtgcaatagttcctaa	12	13	7	9	2	1	1	0	0	1	1	3	1	3	1	2	1	3	3	2	1	6	7			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:49883256G>C	ENST00000553127.1	+	6	627	c.114G>C	c.(112-114)gcG>gcC	p.A38A	SPATS2_ENST00000552918.1_Silent_p.A38A|SPATS2_ENST00000321898.6_Silent_p.A38A			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	38						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGATAAATGCGGTACGTGCAA	0.373													18	43					0	0	0	0	C	49883256	G	C	49883256	2	2	82	1	0	0	0	0	0	0	0	1	15109	1103	39	3		3	SPATS2	12	49883256	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08	9624635	49883256	83968639	163	15993											
CNPY2	10330	broad.mit.edu	37	chr12	56708706	56708706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatggtcttcttggggtccaCctgggcaatttcccattcta	7	14	9	11	0	3	0	0	0	3	0	5	0	5	0	3	4	0	1	3	4	3	5	rs79111613		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:56708706C>G	ENST00000273308.4	-	3	673	c.133G>C	c.(133-135)Gtg>Ctg	p.V45L	RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.V45L|CNPY2_ENST00000551720.1_5'UTR	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	45	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						TTGGGGTCCACCTGGGCAATT	0.537													6	172					0	0	0	0	G	56708706	C	G	56708706	3	3	82	1	0	0	0	0	1	0	0	0	3658	507	18	4	431	4	CNPY2	12	56708706	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	6825450	56708706	77143189	164	15994											
TAC3	6866	broad.mit.edu	37	chr12	57409476	57409476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggagacttaccttgctgcGgcccccgccaggaaccacct	7	6	12	16	2	0	1	0	0	0	1	0	3	0	2	6	4	4	1	6	4	2	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:57409476G>T	ENST00000458521.2	-	2	265	c.106C>A	c.(106-108)Cgc>Agc	p.R36S	TAC3_ENST00000415231.1_Missense_Mutation_p.R36S|TAC3_ENST00000441881.1_Missense_Mutation_p.R36S	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	36					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						ACCTTGCTGCGGCCCCCGCCA	0.602													17	153					1.56452e-12	1.81859e-12	1	0	T	57409476	G	T	57409476	3	4	82	1	0	0	0	0	1	0	0	0	15590	1116	39	3	279	3	TAC3	12	57409476	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	700770	57409476	76442419	165	15995											
OAS2	4939	broad.mit.edu	37	chr12	113444353	113444353	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgaaacttcattcgctcccGgcccaccaaactaaaggatt	12	8	7	14	3	1	0	1	0	0	0	3	2	2	1	3	2	2	1	3	2	4	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:113444353G>T	ENST00000392583.2	+	8	1811	c.1604G>T	c.(1603-1605)cGg>cTg	p.R535L	OAS2_ENST00000342315.4_Missense_Mutation_p.R535L|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	535	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATTCGCTCCCGGCCCACCAAA	0.463													97	198					5.89325e-56	8.13688e-56	1	0	T	113444353	G	T	113444353	3	4	82	1	0	0	0	0	1	0	0	0	10871	1116	39	3	1705	3	OAS2	12	113444353	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	56034877	113444353	20407542	166	15996											
FBXW8	26259	broad.mit.edu	37	chr12	117465849	117465849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagacaccgggggctgatcCgcgcctatgagtttgcggtg	6	9	15	11	4	0	3	0	2	0	1	1	3	1	3	3	3	1	2	3	3	2	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:117465849C>T	ENST00000455858.2	+	11	1544	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	FBXW8_ENST00000309909.5_Missense_Mutation_p.R557C	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	557							protein binding	p.R557C(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GGGGCTGATCCGCGCCTATGA	0.622													3	58					0	0	0	0	T	117465849	C	T	117465849	3	4	82	1	0	0	0	0	1	0	0	0	5815	652	23	1	1711	1	FBXW8	12	117465849	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	4021496	117465849	16386046	167	15997											
CIT	11113	broad.mit.edu	37	chr12	120195319	120195319	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtaaaatttctgttgcctGagttcagaaatcatctcttc	11	15	7	8	0	4	2	2	1	2	1	6	2	4	2	1	1	1	3	1	1	3	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:120195319G>C	ENST00000392521.2	-	22	2617	c.2562C>G	c.(2560-2562)ctC>ctG	p.L854L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.L812L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	812					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTGTTGCCTGAGTTCAGAAA	0.527													36	192					0	0	0	0	C	120195319	G	C	120195319	2	2	82	1	0	0	0	0	0	0	0	1	3468	1277	45	2		2	CIT	12	120195319	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08	2729470	120195319	13656576	168	15998											
TMEM132D	121256	broad.mit.edu	37	chr12	129694087	129694087	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcacgtcttcatcagacGatctacactccacagactcc	12	10	4	15	2	5	2	3	0	2	2	7	3	7	2	2	0	1	0	2	0	2	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:129694087G>T	ENST00000422113.2	-	5	1747	c.1421C>A	c.(1420-1422)tCg>tAg	p.S474*	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	474						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCATCAGACGATCTACACTC	0.592													7	58					0.00198382	0.00210781	1	0	T	129694087	G	T	129694087	4	4	82	1	0	0	0	0	0	1	0	0	16141	1059	37	3	1898	3	TMEM132D	12	129694087	Nonsense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	9498768	129694087	4157808	169	15999											
ANKLE2	23141	broad.mit.edu	37	chr12	133331554	133331554	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtagaaagaagacagcCttcctccttgctccagtaaa	12	9	10	10	0	0	3	0	0	0	3	3	3	3	3	4	2	2	3	4	2	5	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:133331554C>G	ENST00000539605.1	-	1	6845	c.161G>C	c.(160-162)aGg>aCg	p.R54T	ANKLE2_ENST00000337516.5_Missense_Mutation_p.R116T|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R116T			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	116						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGAAGACAGCCTTCCTCCTTG	0.473													44	79					0	0	0	0	G	133331554	C	G	133331554	3	3	82	1	0	0	0	0	1	0	0	0	633	681	24	4	2517	4	ANKLE2	12	133331554	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	3637467	133331554	520341	170	16000											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281382	49281382	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggcaatggttcacccCtttcggcttctgcatgtcac	5	14	8	14	1	3	0	2	0	1	0	5	0	4	0	3	3	1	4	3	3	1	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr13:49281382C>T	ENST00000282018.3	+	1	432	c.429C>T	c.(427-429)ccC>ccT	p.P143P		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	143					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGGTTCACCCCTTTCGGCTTC	0.478													60	160					0	0	0	0	T	49281382	C	T	49281382	2	4	82	1	0	0	0	0	0	0	0	1	4234	668	24	4		4	CYSLTR2	13	49281382	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08		49281382	65888496	171	16001											
THSD1	55901	broad.mit.edu	37	chr13	52971420	52971420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagaaaaatggcttctgCttgaaatgccaaagtcaaag	15	10	9	7	0	2	2	1	1	1	1	2	2	2	2	1	1	3	3	1	1	5	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr13:52971420C>T	ENST00000349258.4	-	3	1512	c.968G>A	c.(967-969)aGc>aAc	p.S323N	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.S323N	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	323						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ATGGCTTCTGCTTGAAATGCC	0.378													39	63					0	0	0	0	T	52971420	C	T	52971420	3	4	82	1	0	0	0	0	1	0	0	0	15971	797	28	4	1602	4	THSD1	13	52971420	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	3690038	52971420	62198458	172	16002											
PCDH17	27253	broad.mit.edu	37	chr13	58208417	58208417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctagacgtgaatgacaaCgcgccagtgatcgtgctccc	9	8	12	12	4	0	4	0	3	0	1	2	4	1	4	2	0	3	2	2	0	3	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr13:58208417C>T	ENST00000377918.3	+	1	1763	c.1737C>T	c.(1735-1737)aaC>aaT	p.N579N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	579	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAATGACAACGCGCCAGTGA	0.642													14	51					0	0	0	0	T	58208417	C	T	58208417	2	4	82	1	0	0	0	0	0	0	0	1	11583	535	19	1		1	PCDH17	13	58208417	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	5236997	58208417	56961461	173	16003											
TOX4	9878	broad.mit.edu	37	chr14	21957451	21957451	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttcagcatatgctttattCtttcgtgatacacaggctgc	8	16	8	9	1	2	1	1	1	1	0	3	1	2	1	0	1	4	4	0	1	3	7			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:21957451C>G	ENST00000405508.1	+	6	975	c.699C>G	c.(697-699)ttC>ttG	p.F233L	TOX4_ENST00000262709.3_Missense_Mutation_p.F233L|TOX4_ENST00000448790.2_Missense_Mutation_p.F210L			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	233						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		ATGCTTTATTCTTTCGTGATA	0.448													30	405					0	0	0	0	G	21957451	C	G	21957451	3	3	82	1	0	0	0	0	1	0	0	0	16475	912	32	2	717	2	TOX4	14	21957451	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08		21957451	85392089	174	16004											
ADCY4	196883	broad.mit.edu	37	chr14	24794669	24794670	+	Frame_Shift_Del	DEL	AG	AG	-																															tatttgaaggcggggattgcAgagagtcggtactgaaagtg																										TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:24794669_24794670delAG	ENST00000310677.4	-	15	1849_1850	c.1736_1737delCT	c.(1735-1737)tfs	p.S579fs	ADCY4_ENST00000396747.3_Frame_Shift_Del_p.S272fs|ADCY4_ENST00000554068.2_Frame_Shift_Del_p.S579fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.S579fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	579					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGGGGATTGCAGAGAGTCGGTA	0.54													24	62	---	---	---	---					-	24794670	AG	-	24794669	7	5	82	1	0	1	0	1	0	0	0	0	296	175	7	0	1544	0	ADCY4	14	24794669	Frame_Shift_Del	DEL	AG	TCGA-CN-5363-01A-01D-1434-08	2837218	24794669	82554871	175	16005											
FOXG1	2290	broad.mit.edu	37	chr14	29237742	29237742	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaccagttactttttcccCcacgtcccgcacccgtcaat	8	10	5	18	3	1	1	1	0	0	1	3	1	3	1	5	0	1	2	5	0	2	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:29237742C>T	ENST00000382535.3	+	2	1626	c.1257C>T	c.(1255-1257)ccC>ccT	p.P419P	FOXG1_ENST00000313071.4_Silent_p.P419P			P55316	FOXG1_HUMAN	forkhead box G1	419					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACTTTTTCCCCCACGTCCCGC	0.687													32	67					0	0	0	0	T	29237742	C	T	29237742	2	4	82	1	0	0	0	0	0	0	0	1	6054	610	22	4		4	FOXG1	14	29237742	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	4443073	29237742	78111798	176	16006											
SSTR1	6751	broad.mit.edu	37	chr14	38678698	38678698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccccggggccggcgctgCggacggcatggaggagccag	5	2	21	13	5	0	0	0	0	0	0	0	3	0	3	4	8	2	2	4	8	0	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:38678698C>A	ENST00000267377.2	+	3	721	c.104C>A	c.(103-105)gCg>gAg	p.A35E		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	35					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCCGGCGCTGCGGACGGCATG	0.697													12	30					5.50884e-06	5.94605e-06	1	0	A	38678698	C	A	38678698	3	1	82	1	0	0	0	0	1	0	0	0	15287	768	27	3	106	3	SSTR1	14	38678698	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	9440956	38678698	68670842	177	16007											
SEC23A	10484	broad.mit.edu	37	chr14	39517935	39517935	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctccaaatttctgacacTaaataaaataaaatgtgtta	18	14	3	6	0	2	1	0	1	2	0	3	1	2	1	1	0	0	1	1	0	8	6			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:39517935T>A	ENST00000537403.1	-	11	2256		c.e11-2		SEC23A_ENST00000545328.2_Splice_Site|SEC23A_ENST00000307712.6_Splice_Site|SEC23A_ENST00000536508.1_Splice_Site			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTTCTGACACTAAATAAAATA	0.313													12	71					0	0	0	0	A	39517935	T	A	39517935	5	1	82	1	0	0	0	0	0	0	1	0	14078	1536	53	5	663	5	SEC23A	14	39517935	Splice_Site	SNP	T	TCGA-CN-5363-01A-01D-1434-08	839237	39517935	67831605	178	16008											
LRFN5	145581	broad.mit.edu	37	chr14	42356462	42356462	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataaattgcagaagctaccaCctgaccctctctttcagcga	12	10	6	13	1	2	2	1	1	1	1	3	3	2	2	3	0	4	2	3	0	4	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:42356462C>A	ENST00000554171.1	+	5	3066	c.634C>A	c.(634-636)Cct>Act	p.P212T	LRFN5_ENST00000298119.4_Missense_Mutation_p.P212T|LRFN5_ENST00000554120.1_Missense_Mutation_p.P212T			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	212						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GAAGCTACCACCTGACCCTCT	0.433										HNSCC(30;0.082)			41	130					5.71845e-15	6.79222e-15	1	0	A	42356462	C	A	42356462	3	1	82	1	0	0	0	0	1	0	0	0	9005	507	18	4	636	4	LRFN5	14	42356462	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	2838527	42356462	64993078	179	16009											
L2HGDH	79944	broad.mit.edu	37	chr14	50736024	50736024	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcctgcacatgtcacaaCatactgacatcgaatttcct	13	11	5	12	1	1	1	1	1	0	0	4	2	3	1	2	0	3	1	2	0	4	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:50736024C>G	ENST00000267436.4	-	7	1160	c.763G>C	c.(763-765)Gtt>Ctt	p.V255L	L2HGDH_ENST00000421284.3_Missense_Mutation_p.V255L|L2HGDH_ENST00000261699.4_Missense_Mutation_p.V255L			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	255					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CATGTCACAACATACTGACAT	0.418													61	246					0	0	0	0	G	50736024	C	G	50736024	3	3	82	1	0	0	0	0	1	0	0	0	8643	478	17	4	644	4	L2HGDH	14	50736024	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	8379562	50736024	56613516	180	16010											
HEATR4	399671	broad.mit.edu	37	chr14	73985749	73985749	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaggaattgcctgggcActccacttttctggagtttc	6	14	10	11	0	2	0	1	0	1	0	4	2	3	2	2	3	1	3	2	3	1	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:73985749A>T	ENST00000553558.1	-	5	1509	c.1188T>A	c.(1186-1188)agT>agA	p.S396R	HEATR4_ENST00000334988.2_Missense_Mutation_p.S396R|HEATR4_ENST00000560393.1_Missense_Mutation_p.S349R|RP3-414A15.11_ENST00000553394.1_RNA	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTGCCTGGGCACTCCACTTTT	0.468													38	114					0	0	0	0	T	73985749	A	T	73985749	3	4	82	1	0	0	0	0	1	0	0	0	7080	156	6	5	1948	5	HEATR4	14	73985749	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	23249725	73985749	33363791	181	16011											
TTLL5	23093	broad.mit.edu	37	chr14	76249857	76249857	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagaaactgtctcgtccCtcttcagcaaaggcaggtga	11	8	10	12	1	3	2	1	1	2	1	5	2	4	2	2	2	3	2	2	2	2	1	rs140291071	by1000genomes	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:76249857C>T	ENST00000298832.9	+	26	3175	c.2970C>T	c.(2968-2970)ccC>ccT	p.P990P	TTLL5_ENST00000557636.1_Silent_p.P1004P|TTLL5_ENST00000556893.1_Silent_p.P541P|TTLL5_ENST00000554510.1_Silent_p.P499P	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	990					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGTCTCGTCCCTCTTCAGCAA	0.512													33	129					0	0	0	0	T	76249857	C	T	76249857	2	4	82	1	0	0	0	0	0	0	0	1	16826	668	24	4		4	TTLL5	14	76249857	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	2264108	76249857	31099683	182	16012											
NRXN3	9369	broad.mit.edu	37	chr14	80328091	80328091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcacaacagggatggtcgtCggcattgtggctgctgccgc	7	8	15	11	3	0	0	0	0	0	0	2	1	0	1	1	4	4	4	1	4	1	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:80328091C>T	ENST00000281127.7	+	6	1962	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	NRXN3_ENST00000335750.5_Silent_p.V990V|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Silent_p.V388V|NRXN3_ENST00000557594.1_Silent_p.V566V|NRXN3_ENST00000554719.1_Silent_p.V990V	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	566					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)		GGATGGTCGTCGGCATTGTGG	0.607													20	51					0	0	0	0	T	80328091	C	T	80328091	2	4	82	1	0	0	0	0	0	0	0	1	10738	871	31	1		1	NRXN3	14	80328091	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	4078234	80328091	27021449	183	16013											
SERPINA10	51156	broad.mit.edu	37	chr14	94750385	94750385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcatgaaatgaaatggccGgtccactttgatgacaggag	13	9	12	7	1	1	4	1	4	0	0	2	6	2	5	2	3	0	0	2	3	2	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:94750385G>A	ENST00000554723.1	-	5	1790	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W	SERPINA10_ENST00000393096.1_Missense_Mutation_p.R418W|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R418W|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R418W			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	418					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGAAATGGCCGGTCCACTTTG	0.453													4	156					0	0	0	0	A	94750385	G	A	94750385	3	1	82	1	0	0	0	0	1	0	0	0	14174	1115	39	1	86	1	SERPINA10	14	94750385	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	14422294	94750385	12599155	184	16014											
APBA2	321	broad.mit.edu	37	chr15	29386517	29386517	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaagatcaagaaaaaagcgGtgtgtagggccttgaggccc	13	7	13	8	1	1	3	1	1	0	2	1	3	1	3	2	3	1	1	2	3	6	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:29386517G>T	ENST00000558402.1	+	9	1850		c.e9+1		APBA2_ENST00000558330.1_Intron|APBA2_ENST00000411764.1_Intron|APBA2_ENST00000558259.1_Splice_Site|APBA2_ENST00000561069.1_Splice_Site			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2						nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAAAAAAGCGGTGTGTAGGGC	0.517													42	114					1.86633e-21	2.44059e-21	1	0	T	29386517	G	T	29386517	5	4	82	1	0	0	0	0	0	0	1	0	758	1275	44	4	1270	4	APBA2	15	29386517	Splice_Site	SNP	G	TCGA-CN-5363-01A-01D-1434-08		29386517	73144875	185	16015											
AQP9	366	broad.mit.edu	37	chr15	58471405	58471405	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggagcccccagaggcctaGagcccattgccatcggcctc	7	6	12	16	1	0	2	0	0	0	2	2	3	0	3	6	3	3	0	6	3	1	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:58471405G>C	ENST00000219919.4	+	5	944	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	AQP9_ENST00000558772.1_Missense_Mutation_p.E127Q|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.E192Q	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	192					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CAGAGGCCTAGAGCCCATTGC	0.552													14	65					0	0	0	0	C	58471405	G	C	58471405	3	2	82	1	0	0	0	0	1	0	0	0	835	943	33	2	592	2	AQP9	15	58471405	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	29084888	58471405	44059987	186	16016											
HERC1	8925	broad.mit.edu	37	chr15	64041644	64041644	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatagctatgccatctaagCcactcactttctttggttta	10	15	6	10	0	3	0	1	0	2	0	3	1	3	0	2	1	3	2	2	1	5	7			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:64041644C>A	ENST00000443617.2	-	10	2228	c.2141G>T	c.(2140-2142)gGc>gTc	p.G714V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	714					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCCATCTAAGCCACTCACTTT	0.428													74	128					6.6428e-20	8.48282e-20	1	0	A	64041644	C	A	64041644	3	1	82	1	0	0	0	0	1	0	0	0	7107	739	26	4	12720	4	HERC1	15	64041644	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	5570239	64041644	38489748	187	16017											
MSLN	10232	broad.mit.edu	37	chr16	815291	815291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcggctctgcagggcggggGacccccctacgggtaagtga	6	5	18	12	3	1	1	0	1	1	0	1	2	1	2	3	6	2	3	3	6	2	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:815291G>A	ENST00000566549.1	+	8	1109	c.692G>A	c.(691-693)gGa>gAa	p.G231E	MSLN_ENST00000545450.2_Missense_Mutation_p.G231E|MSLN_ENST00000382862.3_Missense_Mutation_p.G231E|MSLN_ENST00000563941.1_Missense_Mutation_p.G231E			Q13421	MSLN_HUMAN	mesothelin	231					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CAGGGCGGGGGACCCCCCTAC	0.692													6	6					0	0	0	0	A	815291	G	A	815291	3	1	82	1	0	0	0	0	1	0	0	0	9951	1174	41	2	718	2	MSLN	16	815291	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08		815291	89539462	188	16018											
ADCY7	113	broad.mit.edu	37	chr16	50332901	50332901	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcgctgcctacccacgcccgGaactgcgtgaagatggggct	7	7	13	14	4	0	2	0	1	0	1	1	3	0	3	3	3	4	2	3	3	3	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:50332901G>C	ENST00000394697.2	+	8	1375	c.1035G>C	c.(1033-1035)cgG>cgC	p.R345R	ADCY7_ENST00000254235.3_Silent_p.R345R|ADCY7_ENST00000566433.2_Silent_p.R345R|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000538642.1_Silent_p.R345R|ADCY7_ENST00000537579.1_Silent_p.R345R			P51828	ADCY7_HUMAN	adenylate cyclase 7	345	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCCACGCCCGGAACTGCGTGA	0.657													19	81					0	0	0	0	C	50332901	G	C	50332901	2	2	82	1	0	0	0	0	0	0	0	1	299	1161	41	2		2	ADCY7	16	50332901	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08	49517610	50332901	40021852	189	16019											
GPR114	221188	broad.mit.edu	37	chr16	57597828	57597828	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctgacccgggacgcctgCaagacccgccccagggagct	8	3	14	16	3	0	2	0	1	0	1	0	5	0	4	5	2	3	3	5	2	1	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:57597828C>T	ENST00000340339.4	+	5	889	c.366C>T	c.(364-366)tgC>tgT	p.C122C	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.C122C	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	122					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GGGACGCCTGCAAGACCCGCC	0.637													41	106					0	0	0	0	T	57597828	C	T	57597828	2	4	82	1	0	0	0	0	0	0	0	1	6680	718	25	4		4	GPR114	16	57597828	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	7264927	57597828	32756925	190	16020											
CDH11	1009	broad.mit.edu	37	chr16	65026867	65026867	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttcgaggatactgtaCactaacttggcgctatttcc	8	14	8	11	2	0	0	0	0	0	0	3	2	2	1	2	2	3	2	2	2	4	7			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:65026867C>A	ENST00000394156.3	-	5	1047	c.594G>T	c.(592-594)gtG>gtT	p.V198V	CDH11_ENST00000566827.1_Silent_p.V72V|CDH11_ENST00000268603.4_Silent_p.V198V			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	198	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGATACTGTACACTAACTTGG	0.423			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			23	119					6.36457e-07	6.92466e-07	1	0	A	65026867	C	A	65026867	2	1	82	1	0	0	0	0	0	0	0	1	3126	465	17	4		4	CDH11	16	65026867	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	7429039	65026867	25327886	191	16021											
CHTF8	54921	broad.mit.edu	37	chr16	69155027	69155027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagcgagcctcgatctcccCctgtagctccatcagcaccc	7	8	8	18	2	2	0	1	0	1	0	5	2	3	0	5	0	4	4	5	0	2	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:69155027C>A	ENST00000448552.2	-	3	191	c.70G>T	c.(70-72)Ggg>Tgg	p.G24W	CHTF8_ENST00000398235.2_Missense_Mutation_p.G24W|CHTF8_ENST00000522091.1_Missense_Mutation_p.G24W|CHTF8_ENST00000520529.1_Intron|CHTF8_ENST00000523421.1_Missense_Mutation_p.G24W|CHTF8_ENST00000519520.1_Intron|CHTF8_ENST00000518041.1_Missense_Mutation_p.G24W|CHTF8_ENST00000306585.6_5'UTR	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)	24					cell cycle|DNA replication	nucleus	DNA binding										TCGATCTCCCCCTGTAGCTCC	0.542													36	253					6.97489e-18	8.70261e-18	1	0	A	69155027	C	A	69155027	3	1	82	1	0	0	0	0	1	0	0	0	3444	623	22	4	303	4	CHTF8	16	69155027	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	4128160	69155027	21199726	192	16022											
HYDIN	54768	broad.mit.edu	37	chr16	70863519	70863519	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtggggggacctcagtctAcctggtgcttgcggttctcc	3	11	16	11	1	3	0	1	0	2	0	4	1	3	1	3	6	3	2	3	6	1	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:70863519A>T	ENST00000393567.2	-	81	14263		c.e81+1			NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACCTCAGTCTACCTGGTGCTT	0.567													13	61					0	0	0	0	T	70863519	A	T	70863519	5	4	82	1	0	0	0	0	0	0	1	0	7520	405	14	5	1275	5	HYDIN	16	70863519	Splice_Site	SNP	A	TCGA-CN-5363-01A-01D-1434-08	1708492	70863519	19491234	193	16023											
ZFPM1	161882	broad.mit.edu	37	chr16	88552448	88552448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccccgagccctcccagcGcaggtgagtcagactgagcc	9	4	12	16	2	1	3	1	2	0	1	2	4	2	3	5	1	4	1	5	1	1	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:88552448G>A	ENST00000319555.3	+	2	464	c.142G>A	c.(142-144)Gca>Aca	p.A48T	ZFPM1_ENST00000569086.1_3'UTR	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	48					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCCTCCCAGCGCAGGTGAGTC	0.642													7	33					0	0	0	0	A	88552448	G	A	88552448	3	1	82	1	0	0	0	0	1	0	0	0	17752	1087	38	1	148	1	ZFPM1	16	88552448	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	17688929	88552448	1802305	194	16024											
GEMIN4	50628	broad.mit.edu	37	chr17	650275	650279	+	Frame_Shift_Del	DEL	GCGGA	GCGGA	-																															taacttgtcccctggctgctGcggagcacggcctgcaactc																										TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:650275_650279delGCGGA	ENST00000576778.1	-	1	2312_2316	c.971_975delTCCGC	c.(970-975)cfs	p.LR324fs	GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Frame_Shift_Del_p.LR335fs			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	335					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCTGGCTGCTGCGGAGCACGGCCTG	0.629													7	164	---	---	---	---					-	650279	GCGGA	-	650275	7	5	82	1	0	1	0	1	0	0	0	0	6381	1306	46	0	2172	0	GEMIN4	17	650275	Frame_Shift_Del	DEL	GCGGA	TCGA-CN-5363-01A-01D-1434-08		650275	80544935	195	16025											
TP53	7157	broad.mit.edu	37	chr17	7577092	7577092	+	Frame_Shift_Del	DEL	C	C	-																															agattctcttcctctgtgcgCcggtctctcccaggacaggc																										TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:7577092delC	ENST00000420246.2	-	8	978	c.846delG	c.(844-846)cgfs	p.R283fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.R283fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R283fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.R283fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R283fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.R282R(7)|p.R282H(3)|p.?(2)|p.D281fs*63(2)|p.R283fs*63(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.G279fs*59(1)|p.R283del(1)|p.R283_T284>T(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTCTGTGCGCCGGTCTCTCC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			57	64	---	---	---	---					-	7577092	C	-	7577092	7	5	82	1	0	1	0	1	0	0	0	0	16476	726	26	0	440	0	TP53	17	7577092	Frame_Shift_Del	DEL	C	TCGA-CN-5363-01A-01D-1434-08	6926817	7577092	73618118	196	16026											
PER1	5187	broad.mit.edu	37	chr17	8044393	8044393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagaatggagtctagctgGtgcagtttcctgctgtaggt	7	12	13	9	0	1	1	0	0	1	1	2	2	2	2	2	3	3	5	2	3	3	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:8044393G>A	ENST00000317276.4	-	23	4103	c.3866C>T	c.(3865-3867)aCc>aTc	p.T1289I	PER1_ENST00000581082.1_Missense_Mutation_p.T1266I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1289	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGTCTAGCTGGTGCAGTTTCC	0.542			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					7	297					0	0	0	0	A	8044393	G	A	8044393	3	1	82	1	0	0	0	0	1	0	0	0	11800	1261	44	4	10	4	PER1	17	8044393	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	467301	8044393	73150817	197	16027											
AURKB	9212	broad.mit.edu	37	chr17	8111074	8111074	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgggctggacattggAgcggctcatgaggacaagtg	9	8	16	8	1	1	1	1	1	0	0	1	4	1	4	1	5	1	2	1	5	1	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:8111074A>G	ENST00000316199.6	-	3	210	c.133T>C	c.(133-135)Tcc>Ccc	p.S45P	AURKB_ENST00000578549.1_Missense_Mutation_p.S45P|AURKB_ENST00000585124.1_Missense_Mutation_p.S45P|AURKB_ENST00000535053.1_Missense_Mutation_p.S45P|AURKB_ENST00000534871.1_Missense_Mutation_p.S4P			Q96GD4	AURKB_HUMAN	aurora kinase B	45					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						TGGACATTGGAGCGGCTCATG	0.612													16	48					0	0	0	0	G	8111074	A	G	8111074	3	3	82	1	0	0	0	0	1	0	0	0	1227	304	11	5	929	5	AURKB	17	8111074	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	66681	8111074	73084136	198	16028											
MYO15A	51168	broad.mit.edu	37	chr17	18046140	18046140	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacgcatacgtgagccgcCgacgctatctcaaggtatag	11	8	10	12	5	1	1	1	1	1	0	2	2	1	1	2	1	3	3	2	1	6	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:18046140C>G	ENST00000205890.5	+	25	6234	c.5896C>G	c.(5896-5898)Cga>Gga	p.R1966G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1966	IQ 3.|Neck or regulatory domain.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTGAGCCGCCGACGCTATCT	0.582													4	33					0	0	0	0	G	18046140	C	G	18046140	3	3	82	1	0	0	0	0	1	0	0	0	10133	644	23	3	5986	3	MYO15A	17	18046140	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	9935066	18046140	63149070	199	16029											
RNF112	7732	broad.mit.edu	37	chr17	19315865	19315865	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggccccagcccatggcGccccgggagctccctacctg	4	5	13	19	2	0	0	0	0	0	0	1	1	1	1	7	4	3	1	7	4	1	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:19315865G>T	ENST00000461366.1	+	3	365	c.150G>T	c.(148-150)gcG>gcT	p.A50A	RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	50							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						AGCCCATGGCGCCCCGGGAGC	0.617													9	42					4.68919e-08	5.12233e-08	1	0	T	19315865	G	T	19315865	2	4	82	1	0	0	0	0	0	0	0	1	13511	1074	38	3		3	RNF112	17	19315865	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08	1269725	19315865	61879345	200	16030											
BLMH	642	broad.mit.edu	37	chr17	28601109	28601109	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgttccctgtaaaactccAagggtgttatggggccaatt	10	12	10	9	0	0	0	0	0	0	0	2	0	2	0	3	3	1	3	3	3	5	4			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:28601109A>T	ENST00000261714.6	-	7	926	c.752T>A	c.(751-753)tTg>tAg	p.L251*	BLMH_ENST00000582669.1_5'UTR|BLMH_ENST00000394819.3_Nonsense_Mutation_p.L164*	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	251					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						GTAAAACTCCAAGGGTGTTAT	0.428													39	126					0	0	0	0	T	28601109	A	T	28601109	4	4	82	1	0	0	0	0	0	1	0	0	1451	131	5	5	639	5	BLMH	17	28601109	Nonsense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08	9285244	28601109	52594101	201	16031											
TMEM98	26022	broad.mit.edu	37	chr17	31267870	31267870	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaatgcctgccatctgacGggaggcctggactggattga	9	8	15	9	1	1	2	0	2	1	0	1	6	1	6	3	5	2	0	3	5	1	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:31267870G>A	ENST00000579849.1	+	8	971	c.540G>A	c.(538-540)acG>acA	p.T180T	TMEM98_ENST00000394642.3_Silent_p.T180T|TMEM98_ENST00000578289.1_Intron	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	180						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			GCCATCTGACGGGAGGCCTGG	0.547													32	144					0	0	0	0	A	31267870	G	A	31267870	2	1	82	1	0	0	0	0	0	0	0	1	16319	1103	39	1		1	TMEM98	17	31267870	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08	2666761	31267870	49927340	202	16032											
CCL16	6360	broad.mit.edu	37	chr17	34308415	34308415	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagccgaagtaatgataagGatgaggacaaggagagacag	18	4	15	4	1	0	3	0	2	0	1	0	9	0	6	1	3	1	1	1	3	5	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:34308415G>A	ENST00000293275.3	-	1	117	c.42C>T	c.(40-42)atC>atT	p.I14I		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	14					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TAATGATAAGGATGAGGACAA	0.557													8	31					0	0	0	0	A	34308415	G	A	34308415	2	1	82	1	0	0	0	0	0	0	0	1	2914	1164	41	2		2	CCL16	17	34308415	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08	3040545	34308415	46886795	203	16033											
BRCA1	672	broad.mit.edu	37	chr17	41246660	41246660	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccttttctacattcatTctgtctttagtgagtaataa	10	18	5	8	0	5	1	2	1	3	0	5	1	5	1	1	0	2	1	1	0	4	9			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:41246660T>C	ENST00000357654.3	-	10	1006	c.888A>G	c.(886-888)agA>agG	p.R296R	BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_Silent_p.R249R|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Silent_p.R296R|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Silent_p.R296R|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Silent_p.R296R|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	296					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTACATTCATTCTGTCTTTAG	0.408			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			52	145					0	0	0	0	C	41246660	T	C	41246660	2	2	82	1	0	0	0	0	0	0	0	1	1506	1780	62	5		5	BRCA1	17	41246660	Silent	SNP	T	TCGA-CN-5363-01A-01D-1434-08	6938245	41246660	39948550	204	16034											
AKAP1	8165	broad.mit.edu	37	chr17	55195783	55195783	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagatgccgccatgagcGagatgacggggaatacagca	14	4	14	9	3	0	4	0	2	0	2	0	6	0	5	2	2	5	2	2	2	3	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:55195783G>T	ENST00000337714.3	+	9	2775	c.2542G>T	c.(2542-2544)Gag>Tag	p.E848*	AKAP1_ENST00000539273.1_Nonsense_Mutation_p.E848*|AKAP1_ENST00000572557.1_Nonsense_Mutation_p.E848*|AKAP1_ENST00000571629.1_Nonsense_Mutation_p.E848*	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	848					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CGCCATGAGCGAGATGACGGG	0.562													5	96					0.014758	0.0154391	1	0	T	55195783	G	T	55195783	4	4	82	1	0	0	0	0	0	1	0	0	445	1059	37	3	2572	3	AKAP1	17	55195783	Nonsense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	13949123	55195783	25999427	205	16035											
MPO	4353	broad.mit.edu	37	chr17	56348209	56348209	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgctgaacacaccctcGttctcccaccaaaacctgca	11	8	5	17	1	1	1	0	1	1	0	3	1	1	1	4	0	5	4	4	0	3	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:56348209G>C	ENST00000340482.3	-	11	2318	c.2142C>G	c.(2140-2142)aaC>aaG	p.N714K	MPO_ENST00000225275.3_Missense_Mutation_p.N682K			P05164	PERM_HUMAN	myeloperoxidase	682					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	ACACACCCTCGTTCTCCCACC	0.577													7	109					0	0	0	0	C	56348209	G	C	56348209	3	2	82	1	0	0	0	0	1	0	0	0	9802	1136	40	3	195	3	MPO	17	56348209	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	1152426	56348209	24847001	206	16036											
HELZ	9931	broad.mit.edu	37	chr17	65174991	65174991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttagaggaagaatcccaaCgtttagctgtggttactagc	11	12	10	8	1	1	2	0	0	1	2	2	3	2	3	1	2	4	3	1	2	7	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:65174991C>A	ENST00000358691.5	-	13	1380	c.1214G>T	c.(1213-1215)cGt>cTt	p.R405L	HELZ_ENST00000580168.1_Missense_Mutation_p.R405L	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGAATCCCAACGTTTAGCTGT	0.348													17	141					1.33834e-09	1.50425e-09	1	0	A	65174991	C	A	65174991	3	1	82	1	0	0	0	0	1	0	0	0	7099	536	19	3	4698	3	HELZ	17	65174991	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	8826782	65174991	16020219	207	16037											
KLHL14	57565	broad.mit.edu	37	chr18	30254696	30254696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaacggttctgctacatctCcttcgagttctgtccaggtt	6	14	8	13	2	3	0	0	0	3	0	6	1	4	0	3	2	3	4	3	2	2	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr18:30254696C>T	ENST00000359358.4	-	9	2249	c.1811G>A	c.(1810-1812)gGa>gAa	p.G604E		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	604						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGCTACATCTCCTTCGAGTTC	0.468													74	174					0	0	0	0	T	30254696	C	T	30254696	3	4	82	1	0	0	0	0	1	0	0	0	8422	855	30	2	79	2	KLHL14	18	30254696	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08		30254696	47822552	208	16038											
ZNF516	9658	broad.mit.edu	37	chr18	74154630	74154630	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcgaggccccgttcagCagccggttgcaggccgaggc	5	5	16	15	4	1	0	1	0	0	0	1	2	1	0	5	4	4	4	5	4	0	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr18:74154630C>A	ENST00000443185.2	-	3	698	c.381G>T	c.(379-381)ctG>ctT	p.L127L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCCCGTTCAGCAGCCGGTTGC	0.751													5	6					5.18039e-06	5.61381e-06	1	0	A	74154630	C	A	74154630	2	1	82	1	0	0	0	0	0	0	0	1	18055	697	25	4		4	ZNF516	18	74154630	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	43899934	74154630	3922618	209	16039											
ZNF14	7561	broad.mit.edu	37	chr19	19822314	19822314	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatctgaaggctttcccAcattgtttacatcgataggg	12	12	9	8	1	1	1	0	1	1	0	3	3	2	1	1	2	1	2	1	2	5	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:19822314A>T	ENST00000344099.3	-	4	1914	c.1776T>A	c.(1774-1776)tgT>tgA	p.C592*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AGGCTTTCCCACATTGTTTAC	0.383													50	74					0	0	0	0	T	19822314	A	T	19822314	4	4	82	1	0	0	0	0	0	1	0	0	17823	157	6	5	156	5	ZNF14	19	19822314	Nonsense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08		19822314	39306669	210	16040											
NUP62	23636	broad.mit.edu	37	chr19	50412642	50412642	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggtggaggggccaaaCacaaagccggtgggtgctgt	9	6	19	7	1	0	0	0	0	0	0	0	2	0	1	2	7	3	1	2	7	2	0			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:50412642C>T	ENST00000596217.1	-	2	2310	c.423G>A	c.(421-423)gtG>gtA	p.V141V	IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Silent_p.V141V|NUP62_ENST00000422090.2_Silent_p.V141V|NUP62_ENST00000413454.1_Silent_p.V141V|NUP62_ENST00000597029.1_Silent_p.V141V|NUP62_ENST00000352066.3_Silent_p.V141V|IL4I1_ENST00000595948.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	141	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGGGCCAAACACAAAGCCGG	0.602													11	108					0	0	0	0	T	50412642	C	T	50412642	2	4	82	1	0	0	0	0	0	0	0	1	10839	465	17	4		4	NUP62	19	50412642	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08	30590328	50412642	8716341	211	16041											
LRRC4B	94030	broad.mit.edu	37	chr19	51020919	51020919	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaggcgggcctttgcccCcgcagcccccgccgctgggg	2	4	16	19	4	0	0	0	0	0	0	0	0	0	0	7	5	2	2	7	5	0	1			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:51020919C>A	ENST00000599957.1	-	3	2248	c.2051G>T	c.(2050-2052)gGg>gTg	p.G684V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.G684V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	684						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCCTTTGCCCCCGCAGCCCCC	0.672													13	19					0.000151284	0.00016137	1	0	A	51020919	C	A	51020919	3	1	82	1	0	0	0	0	1	0	0	0	9071	623	22	4	94	4	LRRC4B	19	51020919	Missense_Mutation	SNP	C	TCGA-CN-5363-01A-01D-1434-08	608277	51020919	8108064	212	16042											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733088	56733088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaggctccccctgtaggtGaaaactttcttgcagtcttt	7	15	8	11	0	3	1	1	1	2	0	4	1	4	1	2	2	2	3	2	2	3	5			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:56733088G>A	ENST00000587340.1	-	7	2042	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	ZSCAN5A_ENST00000587492.1_Silent_p.F303F|ZSCAN5A_ENST00000254165.3_Silent_p.F332F|ZSCAN5A_ENST00000592355.1_Silent_p.F448F|ZSCAN5A_ENST00000391713.1_Silent_p.F449F			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	449					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCCTGTAGGTGAAAACTTTCT	0.507													27	79					0	0	0	0	A	56733088	G	A	56733088	2	1	82	1	0	0	0	0	0	0	0	1	18329	1281	45	2		2	ZSCAN5A	19	56733088	Silent	SNP	G	TCGA-CN-5363-01A-01D-1434-08	5712169	56733088	2395895	213	16043											
CST7	8530	broad.mit.edu	37	chr20	24937978	24937978	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggatttcctaaaacaatAaagaccaatgacccaggagt	17	7	7	10	0	0	2	0	1	0	1	1	4	1	4	4	2	1	0	4	2	6	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr20:24937978A>G	ENST00000480798.1	+	2	402	c.126A>G	c.(124-126)atA>atG	p.I42M	CST7_ENST00000376835.2_Missense_Mutation_p.I64M	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	42					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						CTAAAACAATAAAGACCAATG	0.458													97	312					0	0	0	0	G	24937978	A	G	24937978	3	3	82	1	0	0	0	0	1	0	0	0	4009	352	13	5	132	5	CST7	20	24937978	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08		24937978	38087542	214	16044											
MYO18B	84700	broad.mit.edu	37	chr22	26164925	26164925	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaagtaaggcagagaagAcaggtgagcctcagacccag	14	6	12	9	0	2	4	1	1	1	3	2	5	2	4	2	2	1	2	2	2	3	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr22:26164925A>G	ENST00000335473.7	+	4	1292	c.1042A>G	c.(1042-1044)Aca>Gca	p.T348A	MYO18B_ENST00000536101.1_Missense_Mutation_p.T348A|MYO18B_ENST00000407587.2_Missense_Mutation_p.T348A	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	348						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCAGAGAAGACAGGTGAGCC	0.547													7	18					0	0	0	0	G	26164925	A	G	26164925	3	3	82	1	0	0	0	0	1	0	0	0	10136	275	10	5	1052	5	MYO18B	22	26164925	Missense_Mutation	SNP	A	TCGA-CN-5363-01A-01D-1434-08		26164925	25139641	215	16045											
GPR143	4935	broad.mit.edu	37	chrX	9728793	9728793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagcaggccaaatttcCgtgtggttcatatccgagac	12	9	10	10	2	1	1	1	0	0	1	3	2	3	1	3	2	2	3	3	2	3	3			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chrX:9728793C>T	ENST00000467482.1	-	2	470	c.324G>A	c.(322-324)acG>acA	p.T108T	GPR143_ENST00000380929.2_Silent_p.T128T			P51810	GP143_HUMAN	G protein-coupled receptor 143	108					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GCCAAATTTCCGTGTGGTTCA	0.517													5	4					0	0	0	0	T	9728793	C	T	9728793	2	4	82	1	0	0	0	0	0	0	0	1	6700	639	23	1		1	GPR143	23	9728793	Silent	SNP	C	TCGA-CN-5363-01A-01D-1434-08		9728793	145541767	216	16046											
FAM46D	169966	broad.mit.edu	37	chrX	79698219	79698219	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaattattgttaaagatGccagattgaatggttccgta	14	13	10	4	1	0	3	0	1	0	2	1	4	1	4	2	2	1	3	2	2	7	6			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chrX:79698219G>C	ENST00000538312.1	+	5	515	c.181G>C	c.(181-183)Gcc>Ccc	p.A61P	FAM46D_ENST00000308293.5_Missense_Mutation_p.A61P	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	61										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGTTAAAGATGCCAGATTGAA	0.398													52	44					0	0	0	0	C	79698219	G	C	79698219	3	2	82	1	0	0	0	0	1	0	0	0	5615	1319	46	4	183	4	FAM46D	23	79698219	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	69969426	79698219	75572341	217	16047											
ZNF75D	7626	broad.mit.edu	37	chrX	134428026	134428026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccacatagcccccatctggGggcttgagcatgaatccgcg	8	7	11	15	2	1	2	0	2	1	0	2	2	2	2	4	2	2	2	4	2	2	2			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chrX:134428026G>T	ENST00000370766.3	-	3	2750	c.41C>A	c.(40-42)cCc>cAc	p.P14H	ZNF75D_ENST00000370764.1_Missense_Mutation_p.P14H|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	14					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CCCCATCTGGGGGCTTGAGCA	0.483													114	143					8.09351e-62	1.12894e-61	1	0	T	134428026	G	T	134428026	3	4	82	1	0	0	0	0	1	0	0	0	18228	1232	43	4	1511	4	ZNF75D	23	134428026	Missense_Mutation	SNP	G	TCGA-CN-5363-01A-01D-1434-08	54729807	134428026	20842534	218	16048											
SPEN	23013	broad.mit.edu	37	chr1	16203019	16203019	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaccagcacagcaggagtCggtcaccacattcatcccag	12	7	8	14	1	2	0	2	0	0	0	4	1	3	1	3	2	3	2	3	2	1	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:16203019C>A	ENST00000375759.3	+	3	931	c.727C>A	c.(727-729)Cgg>Agg	p.R243R	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	243	Arg-rich.|Ser-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.R243R(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGCAGGAGTCGGTCACCACA	0.547													27	55					8.24728e-16	9.62183e-16	1	0	A	16203019	C	A	16203019	2	1	83	1	0	0	0	0	0	0	0	1	15128	875	31	3		3	SPEN	1	16203019	Silent	SNP	C	TCGA-CN-5364-01A-01D-1434-08		16203019	233047602	1	16049											
SLC9A1	6548	broad.mit.edu	37	chr1	27427043	27427043	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttgcccttcagctcttCattcaccaggtccacagact	8	12	6	15	0	4	1	3	0	1	1	5	2	5	1	3	1	2	1	3	1	0	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:27427043C>A	ENST00000263980.3	-	12	2778	c.2203G>T	c.(2203-2205)Gaa>Taa	p.E735*	SLC9A1_ENST00000545949.1_Nonsense_Mutation_p.E396*	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	735					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.E735*(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TTCAGCTCTTCATTCACCAGG	0.607													111	325					5.55186e-77	6.87373e-77	1	0	A	27427043	C	A	27427043	4	1	83	1	0	0	0	0	0	1	0	0	14797	835	29	2	248	2	SLC9A1	1	27427043	Nonsense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	11224024	27427043	221823578	2	16050											
LCK	3932	broad.mit.edu	37	chr1	32739961	32739961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgcagctcacacccggaaGatgactggatggaaaacatc	13	6	11	11	1	1	2	1	1	0	1	2	5	1	5	1	3	3	3	1	3	3	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:32739961G>A	ENST00000333070.4	+	2	131	c.31G>A	c.(31-33)Gat>Aat	p.D11N	LCK_ENST00000373564.3_Missense_Mutation_p.D11N|LCK_ENST00000336890.5_Missense_Mutation_p.D11N	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	11	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	ACACCCGGAAGATGACTGGAT	0.567			T	TRB@	T-ALL								11	83					0	0	0	0	A	32739961	G	A	32739961	3	1	83	1	0	0	0	0	1	0	0	0	8729	942	33	2	33	2	LCK	1	32739961	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	5312918	32739961	216510660	3	16051											
LCK	3932	broad.mit.edu	37	chr1	32740021	32740021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attatcccatagtcccactgGatggcaagggcacggtaaga	12	8	11	10	1	0	1	0	0	0	1	2	2	2	2	2	4	0	3	2	4	4	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:32740021G>T	ENST00000333070.4	+	2	191	c.91G>T	c.(91-93)Gat>Tat	p.D31Y	LCK_ENST00000373564.3_Missense_Mutation_p.D31Y|LCK_ENST00000336890.5_Missense_Mutation_p.D31Y	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	31	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	AGTCCCACTGGATGGCAAGGG	0.552			T	TRB@	T-ALL								9	72					1.76689e-08	1.98503e-08	1	0	T	32740021	G	T	32740021	3	4	83	1	0	0	0	0	1	0	0	0	8729	1174	41	2	93	2	LCK	1	32740021	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	60	32740021	216510600	4	16052											
LCK	3932	broad.mit.edu	37	chr1	32745441	32745441	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatctgtgtttggcctgcaGattgcagaaggcatggcatt	8	13	13	7	0	1	3	0	1	1	2	1	3	1	3	1	3	2	5	1	3	1	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:32745441G>A	ENST00000333070.4	+	11	1231		c.e11-1		LCK_ENST00000373564.3_Splice_Site|LCK_ENST00000336890.5_Splice_Site	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase						activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	TTGGCCTGCAGATTGCAGAAG	0.542			T	TRB@	T-ALL								20	142					0	0	0	0	A	32745441	G	A	32745441	5	1	83	1	0	0	0	0	0	0	1	0	8729	956	33	2	1079	2	LCK	1	32745441	Splice_Site	SNP	G	TCGA-CN-5364-01A-01D-1434-08	5420	32745441	216505180	5	16053											
PPCS	79717	broad.mit.edu	37	chr1	42925463	42925463	+	Frame_Shift_Del	DEL	T	T	-																															agtcacgacagtcctttgtgTttattgtaaccaaagactcg																										TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:42925463delT	ENST00000372561.3	+	3	809	c.802delT	c.(802-804)ttfs	p.F268fs	PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000455780.1_Frame_Shift_Del_p.F95fs|PPCS_ENST00000372562.1_Frame_Shift_Del_p.F95fs	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	268					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCCTTTGTGTTTATTGTAAC	0.408													26	203	---	---	---	---					-	42925463	T	-	42925463	7	5	83	1	0	1	0	1	0	0	0	0	12376	1725	60	0	812	0	PPCS	1	42925463	Frame_Shift_Del	DEL	T	TCGA-CN-5364-01A-01D-1434-08	10180022	42925463	206325158	6	16054											
PTPRF	5792	broad.mit.edu	37	chr1	44058140	44058140	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcccagcacaaggtgaccTtcgacccaacctcctcctac	9	8	5	19	1	0	1	0	1	0	0	4	2	3	1	6	1	3	1	6	1	3	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:44058140T>C	ENST00000359947.4	+	11	2021	c.1681T>C	c.(1681-1683)Ttc>Ctc	p.F561L	PTPRF_ENST00000422171.2_Missense_Mutation_p.F20L|PTPRF_ENST00000372414.3_Missense_Mutation_p.F561L|PTPRF_ENST00000372413.3_Missense_Mutation_p.F561L|PTPRF_ENST00000438120.1_Missense_Mutation_p.F561L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	561	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.F551L(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAAGGTGACCTTCGACCCAAC	0.572													50	164					0	0	0	0	C	44058140	T	C	44058140	3	2	83	1	0	0	0	0	1	0	0	0	12883	1609	56	5	1715	5	PTPRF	1	44058140	Missense_Mutation	SNP	T	TCGA-CN-5364-01A-01D-1434-08	1132677	44058140	205192481	7	16055											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77510090	77510090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccagaggatcctccgcAaccgccatgacctgctcaac	10	6	8	17	2	1	2	1	1	0	1	4	3	4	3	6	1	3	3	6	1	2	0	rs34735755		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:77510090A>G	ENST00000477717.1	+	3	698	c.463A>G	c.(463-465)Aac>Gac	p.N155D		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	155					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GATCCTCCGCAACCGCCATGA	0.637													15	58					0	0	0	0	G	77510090	A	G	77510090	3	3	83	1	0	0	0	0	1	0	0	0	15317	130	5	5	473	5	ST6GALNAC5	1	77510090	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08	33451950	77510090	171740531	8	16056											
BCAR3	8412	broad.mit.edu	37	chr1	94037258	94037258	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagggctttcatgagagctGagaaggaatagaggtccccc	11	7	13	10	0	1	3	1	2	0	3	2	6	2	4	3	3	1	2	3	3	3	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:94037258G>C	ENST00000370244.1	-	11	2231	c.1943C>G	c.(1942-1944)tCa>tGa	p.S648*	BCAR3_ENST00000370247.3_Nonsense_Mutation_p.S557*|BCAR3_ENST00000370243.1_Nonsense_Mutation_p.S648*|BCAR3_ENST00000260502.6_Nonsense_Mutation_p.S648*|BCAR3_ENST00000539242.1_Nonsense_Mutation_p.S324*	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	648	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CATGAGAGCTGAGAAGGAATA	0.478													25	128					0	0	0	0	C	94037258	G	C	94037258	4	2	83	1	0	0	0	0	0	1	0	0	1353	1294	45	2	550	2	BCAR3	1	94037258	Nonsense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	16527168	94037258	155213363	9	16057											
OLFM3	118427	broad.mit.edu	37	chr1	102270141	102270141	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaatattgcctgcattctGgttagttgcatacacagccc	10	12	8	11	0	1	0	0	0	1	0	1	1	1	0	2	1	5	4	2	1	4	6			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:102270141G>A	ENST00000370103.4	-	6	1243	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*	OLFM3_ENST00000338858.5_Nonsense_Mutation_p.Q364*|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	364	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CCTGCATTCTGGTTAGTTGCA	0.483													11	68					0	0	0	0	A	102270141	G	A	102270141	4	1	83	1	0	0	0	0	0	1	0	0	10925	1357	47	4	350	4	OLFM3	1	102270141	Nonsense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	8232883	102270141	146980480	10	16058											
WDR47	22911	broad.mit.edu	37	chr1	109554265	109554265	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaagcaaacagagcttacTatagtcatctttagaaggac	17	9	7	8	0	2	2	1	0	1	2	2	3	2	3	0	1	4	2	0	1	8	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:109554265T>C	ENST00000357672.3	-	4	694	c.319A>G	c.(319-321)Agt>Ggt	p.S107G	WDR47_ENST00000369965.4_Missense_Mutation_p.S135G|WDR47_ENST00000361054.3_Missense_Mutation_p.S107G|WDR47_ENST00000369962.3_Missense_Mutation_p.S135G|WDR47_ENST00000400794.3_Missense_Mutation_p.S142G			O94967	WDR47_HUMAN	WD repeat domain 47	135								p.S135G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CAGAGCTTACTATAGTCATCT	0.408													44	180					0	0	0	0	C	109554265	T	C	109554265	3	2	83	1	0	0	0	0	1	0	0	0	17396	1522	53	5	2403	5	WDR47	1	109554265	Missense_Mutation	SNP	T	TCGA-CN-5364-01A-01D-1434-08	7284124	109554265	139696356	11	16059											
MRPL9	65005	broad.mit.edu	37	chr1	151734860	151734860	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttgagctcaccaatttctCctcttcaaacagcttcttgt	8	16	4	13	0	5	1	2	1	3	0	6	1	5	1	2	0	3	2	2	0	2	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:151734860C>A	ENST00000368830.3	-	3	511	c.427G>T	c.(427-429)Gag>Tag	p.E143*	MRPL9_ENST00000368829.3_Nonsense_Mutation_p.E143*|MRPL9_ENST00000467306.1_5'UTR	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	143					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCAATTTCTCCTCTTCAAAC	0.438													40	158					3.43241e-23	4.19261e-23	1	0	A	151734860	C	A	151734860	4	1	83	1	0	0	0	0	0	1	0	0	9890	864	30	2	396	2	MRPL9	1	151734860	Nonsense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	42180595	151734860	97515761	12	16060											
OR10T2	128360	broad.mit.edu	37	chr1	158368589	158368589	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatcttcaggatggtgttaActatgaagccataggatatg	12	12	12	5	0	2	1	1	1	1	0	2	4	2	4	1	4	2	1	1	4	5	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:158368589A>G	ENST00000334438.1	-	1	667	c.668T>C	c.(667-669)gTt>gCt	p.V223A		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V223A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GATGGTGTTAACTATGAAGCC	0.473													7	47					0	0	0	0	G	158368589	A	G	158368589	3	3	83	1	0	0	0	0	1	0	0	0	10990	43	2	5	278	5	OR10T2	1	158368589	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08	6633729	158368589	90882032	13	16061											
LMX1A	4009	broad.mit.edu	37	chr1	165173278	165173278	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaaaaggggctcggcacCtgaaatggagatgaaacact	15	6	13	7	1	0	3	0	2	0	1	1	5	0	4	1	5	1	2	1	5	4	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:165173278C>T	ENST00000342310.3	-	9	1371		c.e9-1		LMX1A_ENST00000367893.4_Splice_Site|LMX1A_ENST00000489443.2_Splice_Site|LMX1A_ENST00000294816.2_Splice_Site	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GGCTCGGCACCTGAAATGGAG	0.507													17	79					0	0	0	0	T	165173278	C	T	165173278	5	4	83	1	0	0	0	0	0	0	1	0	8916	695	24	4	164	4	LMX1A	1	165173278	Splice_Site	SNP	C	TCGA-CN-5364-01A-01D-1434-08	6804689	165173278	84077343	14	16062											
PAPPA2	60676	broad.mit.edu	37	chr1	176564125	176564125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacagcgagctttgagcCtgtgaacacagagtgggttc	9	9	13	10	1	0	4	0	3	0	1	1	5	0	4	2	1	4	2	2	1	1	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:176564125C>T	ENST00000367662.3	+	3	2549	c.1385C>T	c.(1384-1386)cCt>cTt	p.P462L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P462L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	462	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P462L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGCTTTGAGCCTGTGAACACA	0.542													24	111					0	0	0	0	T	176564125	C	T	176564125	3	4	83	1	0	0	0	0	1	0	0	0	11504	681	24	4	1391	4	PAPPA2	1	176564125	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	11390847	176564125	72686496	15	16063											
HMCN1	83872	broad.mit.edu	37	chr1	186039757	186039757	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgcagttccacccataatCaataaaggggacctttgggg	12	10	10	9	0	1	0	1	0	0	0	2	1	2	1	3	4	1	2	3	4	5	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:186039757C>T	ENST00000271588.4	+	52	8236	c.8007C>T	c.(8005-8007)atC>atT	p.I2669I	HMCN1_ENST00000367492.2_Silent_p.I2669I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2669	Ig-like C2-type 25.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.I2669I(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACCCATAATCAATAAAGGGG	0.373													25	110					0	0	0	0	T	186039757	C	T	186039757	2	4	83	1	0	0	0	0	0	0	0	1	7270	816	29	2		2	HMCN1	1	186039757	Silent	SNP	C	TCGA-CN-5364-01A-01D-1434-08	9475632	186039757	63210864	16	16064											
KDM5B	10765	broad.mit.edu	37	chr1	202724420	202724420	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgcaagtagttaattgaaTagctccagtggtcttcaatg	12	13	10	6	0	2	1	1	1	1	0	3	1	3	1	1	1	2	4	1	1	6	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:202724420T>A	ENST00000367265.3	-	11	2681	c.1517A>T	c.(1516-1518)tAt>tTt	p.Y506F	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.Y542F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	506	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.Y506F(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GTTAATTGAATAGCTCCAGTG	0.403													32	92					0	0	0	0	A	202724420	T	A	202724420	3	1	83	1	0	0	0	0	1	0	0	0	8186	1406	49	5	3185	5	KDM5B	1	202724420	Missense_Mutation	SNP	T	TCGA-CN-5364-01A-01D-1434-08	16684663	202724420	46526201	17	16065											
TLR5	7100	broad.mit.edu	37	chr1	223284063	223284063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgggcataactgaaggCttcaaggcaccagccatctc	10	7	10	14	0	2	1	1	1	1	0	3	1	2	1	3	3	2	3	3	3	3	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:223284063C>T	ENST00000540964.1	-	4	2772	c.2311G>A	c.(2311-2313)Gcc>Acc	p.A771T	TLR5_ENST00000342210.6_Missense_Mutation_p.A771T			O60602	TLR5_HUMAN	toll-like receptor 5	771	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	p.A771T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TAACTGAAGGCTTCAAGGCAC	0.483													11	45					0	0	0	0	T	223284063	C	T	223284063	3	4	83	1	0	0	0	0	1	0	0	0	16048	797	28	4	269	4	TLR5	1	223284063	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	20559643	223284063	25966558	18	16066											
TMEM63A	9725	broad.mit.edu	37	chr1	226047034	226047035	+	Frame_Shift_Ins	INS	-	-	A																															gccaccagcggaggccctggINSatagagaggttcttcctgca																										TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:226047034_226047035insA	ENST00000366835.3	-	15	1508_1509	c.1238_1239insT	c.(1237-1239)acafs	p.T413fs		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	413						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GGAGGCCCTGGATAGAGAGGTT	0.574													10	72	---	---	---	---					A	226047035	-	A	226047034	7	5	83	1	0	1	1	0	0	0	0	0	16284	1164	41	0	1224	0	TMEM63A	1	226047034	Frame_Shift_Ins	INS	-	TCGA-CN-5364-01A-01D-1434-08	2762971	226047034	23203587	19	16067											
EXOC8	149371	broad.mit.edu	37	chr1	231472440	231472440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaccgccccttcaaagtctCtctgcgcaatgcagacatcc	10	8	6	17	2	3	1	1	0	2	1	5	1	4	1	4	0	3	2	4	0	3	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:231472440C>T	ENST00000366645.1	-	1	1158	c.1040G>A	c.(1039-1041)aGa>aAa	p.R347K	EXOC8_ENST00000360394.2_Missense_Mutation_p.R351K			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	351					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TTCAAAGTCTCTCTGCGCAAT	0.498													28	132					0	0	0	0	T	231472440	C	T	231472440	3	4	83	1	0	0	0	0	1	0	0	0	5348	913	32	2	1129	2	EXOC8	1	231472440	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	5425406	231472440	17778181	20	16068											
FMN2	56776	broad.mit.edu	37	chr1	240493979	240493979	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caactacatgaatggaggaaAtaagactcgaggacaggcag	17	5	12	7	1	0	2	0	1	0	1	1	6	0	5	0	4	2	1	0	4	5	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:240493979A>T	ENST00000319653.9	+	11	4744	c.4514A>T	c.(4513-4515)aAt>aTt	p.N1505I	FMN2_ENST00000545751.1_Missense_Mutation_p.N101I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1505	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.N1648I(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AATGGAGGAAATAAGACTCGA	0.403													29	93					0	0	0	0	T	240493979	A	T	240493979	3	4	83	1	0	0	0	0	1	0	0	0	5995	101	4	5	4556	5	FMN2	1	240493979	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08	9021539	240493979	8756642	21	16069											
ATAD2B	54454	broad.mit.edu	37	chr2	24009039	24009039	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacttttttctgattctgatAattgacgaggtggagaaggt	10	15	12	4	1	2	4	0	3	2	1	2	7	2	4	0	3	0	0	0	3	2	6			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:24009039A>T	ENST00000238789.5	-	21	3174	c.2831T>A	c.(2830-2832)tTa>tAa	p.L944*	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	944							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATTCTGATAATTGACGAGG	0.443													9	13					0	0	0	0	T	24009039	A	T	24009039	4	4	83	1	0	0	0	0	0	1	0	0	1076	372	13	5	1577	5	ATAD2B	2	24009039	Nonsense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08		24009039	219190334	22	16070											
FBXO11	80204	broad.mit.edu	37	chr2	48035326	48035327	+	Frame_Shift_Ins	INS	-	-	GG																															gtgtatctgtatcatgtgtaINSggctcaccagctaatgtaca																										TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:48035326_48035327insGG	ENST00000403359.3	-	23	2786_2787	c.2714_2715insCC	c.(2713-2715)cacfs	p.H905fs	FBXO11_ENST00000405808.1_Intron|FBXO11_ENST00000402508.1_Frame_Shift_Ins_p.H821fs|FBXO11_ENST00000316377.4_Frame_Shift_Ins_p.H821fs|FBXO11_ENST00000434523.2_Frame_Shift_Ins_p.H329fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	905					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TATCATGTGTAGGCTCACCAGC	0.401			"Mis, F, D"		DLBCL								36	142	---	---	---	---					GG	48035327	-	GG	48035326	7	5	83	1	0	1	1	0	0	0	0	0	5772	407	15	0	72	0	FBXO11	2	48035326	Frame_Shift_Ins	INS	-	TCGA-CN-5364-01A-01D-1434-08	24026287	48035326	195164047	23	16071											
LRRTM1	347730	broad.mit.edu	37	chr2	80530848	80530848	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcacccgctgggggcggcggGcagcatctgaaagcaggccc	7	3	17	14	3	1	1	0	1	1	0	1	1	1	1	2	5	2	5	2	5	1	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:80530848G>C	ENST00000295057.3	-	2	753	c.97C>G	c.(97-99)Ccc>Gcc	p.P33A	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P33A|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	33						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGGGCGGCGGGCAGCATCTGA	0.677										HNSCC(69;0.2)			5	20					0	0	0	0	C	80530848	G	C	80530848	3	2	83	1	0	0	0	0	1	0	0	0	9103	1203	42	4	1475	4	LRRTM1	2	80530848	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	32495522	80530848	162668525	24	16072											
ANKRD36	375248	broad.mit.edu	37	chr2	97779539	97779539	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcttgtgctcggatggcttCgcatttccccaataccccat	6	12	8	15	3	0	0	0	0	0	0	3	1	1	1	4	2	2	4	4	2	2	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:97779539C>T	ENST00000420699.2	+	1	307	c.63C>T	c.(61-63)ttC>ttT	p.F21F	ANKRD36_ENST00000461153.2_Silent_p.F21F	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	21										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CGGATGGCTTCGCATTTCCCC	0.512													5	140					0	0	0	0	T	97779539	C	T	97779539	2	4	83	1	0	0	0	0	0	0	0	1	664	883	31	1		1	ANKRD36	2	97779539	Silent	SNP	C	TCGA-CN-5364-01A-01D-1434-08	17248691	97779539	145419834	25	16073											
IWS1	55677	broad.mit.edu	37	chr2	128244226	128244226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcacagaatccaggatctCcaggtctaagagccctgaaa	13	6	11	11	0	2	3	0	1	2	2	4	4	3	4	3	3	1	1	3	3	3	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:128244226C>T	ENST00000295321.4	-	13	2490	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	AC010976.2_ENST00000599001.1_RNA|AC010976.2_ENST00000596439.1_RNA|AC010976.2_ENST00000598065.1_RNA|AC010976.2_ENST00000595561.1_RNA|AC010976.2_ENST00000454503.2_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	744					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCCAGGATCTCCAGGTCTAAG	0.507													5	52					0	0	0	0	T	128244226	C	T	128244226	3	4	83	1	0	0	0	0	1	0	0	0	7984	855	30	2	236	2	IWS1	2	128244226	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	30464687	128244226	114955147	26	16074											
IWS1	55677	broad.mit.edu	37	chr2	128263073	128263073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcccattaagaagttcctCattttcagagtcactaccag	12	12	6	11	0	3	2	3	0	0	2	4	2	4	2	3	0	2	1	3	0	3	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:128263073C>G	ENST00000295321.4	-	3	665	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.E143Q|IWS1_ENST00000486662.1_5'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	136	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGAAGTTCCTCATTTTCAGAG	0.483													22	174					0	0	0	0	G	128263073	C	G	128263073	3	3	83	1	0	0	0	0	1	0	0	0	7984	835	29	2	2101	2	IWS1	2	128263073	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	18847	128263073	114936300	27	16075											
MBD5	55777	broad.mit.edu	37	chr2	149247786	149247786	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acataaatgggaatagacctCgacagagtcggggatttgga	14	8	13	6	2	0	2	0	0	0	2	2	6	0	5	1	4	0	0	1	4	4	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:149247786C>T	ENST00000407073.1	+	12	4883	c.3886C>T	c.(3886-3888)Cga>Tga	p.R1296*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.R1529*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1296						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GAATAGACCTCGACAGAGTCG	0.413													6	44					0	0	0	0	T	149247786	C	T	149247786	4	4	83	1	0	0	0	0	0	1	0	0	9416	876	31	1	3912	1	MBD5	2	149247786	Nonsense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	20984713	149247786	93951587	28	16076											
MARCH7	64844	broad.mit.edu	37	chr2	160605112	160605112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggttcaccttgaagcacaGaatgatcctcttggagctgc	9	11	11	10	0	2	3	1	2	1	1	3	4	3	4	2	2	3	3	2	2	2	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:160605112G>C	ENST00000259050.3	+	5	1433	c.1311G>C	c.(1309-1311)caG>caC	p.Q437H	MARCH7_ENST00000539065.1_Missense_Mutation_p.Q381H|MARCH7_ENST00000409591.1_Missense_Mutation_p.Q399H|MARCH7_ENST00000409175.1_Missense_Mutation_p.Q437H	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	437							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TTGAAGCACAGAATGATCCTC	0.448													5	147					0	0	0	0	C	160605112	G	C	160605112	3	2	83	1	0	0	0	0	1	0	0	0	9375	933	33	2	1325	2	MARCH7	2	160605112	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	11357326	160605112	82594261	29	16077											
SCN9A	6335	broad.mit.edu	37	chr2	167141152	167141152	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttactgctgcgtcgctcCtggggtctgtggggcacaaa	6	11	14	10	2	1	0	0	0	1	0	3	0	2	0	1	4	3	4	1	4	2	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:167141152C>T	ENST00000303354.6	-	12	2128	c.1788G>A	c.(1786-1788)caG>caA	p.Q596Q	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.Q595Q|SCN9A_ENST00000409435.1_Silent_p.Q595Q|SCN9A_ENST00000375387.4_Silent_p.Q596Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	595						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q595Q(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGCGTCGCTCCTGGGGTCTGT	0.537													17	75					0	0	0	0	T	167141152	C	T	167141152	2	4	83	1	0	0	0	0	0	0	0	1	14012	680	24	4		4	SCN9A	2	167141152	Silent	SNP	C	TCGA-CN-5364-01A-01D-1434-08	6536040	167141152	76058221	30	16078											
HOXD3	3232	broad.mit.edu	37	chr2	177036256	177036256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgcccaggagagagctgcGaggacaagagcccgccaggc	10	2	15	14	2	0	2	0	0	0	2	0	6	0	4	4	3	4	1	4	3	1	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:177036256G>A	ENST00000468418.3	+	4	2643	c.553G>A	c.(553-555)Gag>Aag	p.E185K	HOXD3_ENST00000249440.3_Missense_Mutation_p.E185K|HOXD3_ENST00000410016.1_Missense_Mutation_p.E185K			P31249	HXD3_HUMAN	homeobox D3	185					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGAGAGCTGCGAGGACAAGAG	0.627													5	33					0	0	0	0	A	177036256	G	A	177036256	3	1	83	1	0	0	0	0	1	0	0	0	7373	1059	37	1	559	1	HOXD3	2	177036256	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	9895104	177036256	66163117	31	16079											
SSFA2	6744	broad.mit.edu	37	chr2	182765561	182765561	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcctttgccaaagggatAgatattaaagtatttttgag	13	15	8	5	0	1	2	1	1	0	1	2	3	2	3	2	1	1	1	2	1	6	7			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:182765561A>G	ENST00000431877.2	+	7	821	c.642A>G	c.(640-642)atA>atG	p.I214M	SSFA2_ENST00000428267.2_Missense_Mutation_p.I61M|SSFA2_ENST00000320370.7_Missense_Mutation_p.I214M|SSFA2_ENST00000409001.1_Missense_Mutation_p.I214M	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	214						cytoplasm|plasma membrane	actin binding	p.I214M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCAAAGGGATAGATATTAAAG	0.308													20	71					0	0	0	0	G	182765561	A	G	182765561	3	3	83	1	0	0	0	0	1	0	0	0	15273	410	15	5	668	5	SSFA2	2	182765561	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08	5729305	182765561	60433812	32	16080											
ITGAV	3685	broad.mit.edu	37	chr2	187455218	187455218	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagggaagttacttcggcttCgccgtggatttcttcgtgcc	5	13	13	10	4	1	0	0	0	1	0	4	3	1	2	2	3	2	2	2	3	2	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:187455218C>T	ENST00000261023.3	+	1	427	c.153C>T	c.(151-153)ttC>ttT	p.F51F	ITGAV_ENST00000374907.3_Silent_p.F51F	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	51					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	p.F51F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACTTCGGCTTCGCCGTGGATT	0.637													15	50					0	0	0	0	T	187455218	C	T	187455218	2	4	83	1	0	0	0	0	0	0	0	1	7941	883	31	1		1	ITGAV	2	187455218	Silent	SNP	C	TCGA-CN-5364-01A-01D-1434-08	4689657	187455218	55744155	33	16081											
DNAH7	56171	broad.mit.edu	37	chr2	196822095	196822095	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagctgaaaatgggctccaGatacagccacgtggcttgga	12	7	13	9	1	0	3	0	1	0	2	1	4	1	4	2	3	3	3	2	3	3	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:196822095G>C	ENST00000312428.6	-	19	3068	c.2968C>G	c.(2968-2970)Ctg>Gtg	p.L990V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	990	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGGCTCCAGATACAGCCAC	0.483													4	105					0	0	0	0	C	196822095	G	C	196822095	3	2	83	1	0	0	0	0	1	0	0	0	4642	933	33	2	9294	2	DNAH7	2	196822095	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	9366877	196822095	46377278	34	16082											
SATB2	23314	broad.mit.edu	37	chr2	200246428	200246428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aacacccacctttgtaattgGattttcaacgtcacaacatg	13	12	5	11	1	2	0	2	0	0	0	2	1	2	1	2	1	3	1	2	1	4	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:200246428G>C	ENST00000443023.1	-	3	1750	c.285C>G	c.(283-285)atC>atG	p.I95M	SATB2_ENST00000457245.1_Missense_Mutation_p.I154M|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000417098.1_Missense_Mutation_p.I154M|SATB2_ENST00000260926.5_Missense_Mutation_p.I154M			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	154						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTGTAATTGGATTTTCAACG	0.473													5	137					0	0	0	0	C	200246428	G	C	200246428	3	2	83	1	0	0	0	0	1	0	0	0	13940	1164	41	2	1771	2	SATB2	2	200246428	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	3424333	200246428	42952945	35	16083											
CLK1	1195	broad.mit.edu	37	chr2	201726073	201726073	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgataccggctttcaTggtctctttggcgatgtcca	5	15	11	10	2	3	1	1	1	2	0	5	2	4	1	2	4	1	2	2	4	1	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:201726073T>A	ENST00000434813.2	-	3	738	c.404A>T	c.(403-405)cAt>cTt	p.H135L	CLK1_ENST00000492793.1_5'UTR|CLK1_ENST00000321356.4_Missense_Mutation_p.H93L	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	93					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.H93L(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCGGCTTTCATGGTCTCTTTG	0.408													68	226					0	0	0	0	A	201726073	T	A	201726073	3	1	83	1	0	0	0	0	1	0	0	0	3566	1464	51	5	1220	5	CLK1	2	201726073	Missense_Mutation	SNP	T	TCGA-CN-5364-01A-01D-1434-08	1479645	201726073	41473300	36	16084											
TTLL4	9654	broad.mit.edu	37	chr2	219602407	219602407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgggcccctcatggcctCagcaggaacacagcactata	11	7	10	13	0	2	0	2	0	0	0	2	1	2	1	3	3	3	2	3	3	3	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:219602407C>T	ENST00000392102.1	+	3	348	c.8C>T	c.(7-9)tCa>tTa	p.S3L	TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000258398.4_Missense_Mutation_p.S3L|TTLL4_ENST00000442769.1_Missense_Mutation_p.S3L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	3					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CTCATGGCCTCAGCAGGAACA	0.572													8	71					0	0	0	0	T	219602407	C	T	219602407	3	4	83	1	0	0	0	0	1	0	0	0	16825	838	29	2	10	2	TTLL4	2	219602407	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	17876334	219602407	23596966	37	16085											
SPHKAP	80309	broad.mit.edu	37	chr2	228881860	228881860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgctgtctggcatggacGactgtctgtggcacactggg	6	11	14	10	1	3	0	0	0	3	0	3	2	3	1	0	4	1	3	0	4	0	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:228881860G>A	ENST00000392056.3	-	7	3756	c.3710C>T	c.(3709-3711)tCg>tTg	p.S1237L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1237L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1237						cytoplasm	protein binding	p.S1237L(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGCATGGACGACTGTCTGTG	0.562													29	133					0	0	0	0	A	228881860	G	A	228881860	3	1	83	1	0	0	0	0	1	0	0	0	15138	1059	37	1	1416	1	SPHKAP	2	228881860	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	9279453	228881860	14317513	38	16086											
BAP1	8314	broad.mit.edu	37	chr3	52437288	52437288	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccttggattggtctgaTggagggcgaggaacccttcc	6	10	15	10	1	1	1	0	1	1	0	2	5	2	4	3	5	2	1	3	5	1	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:52437288T>G	ENST00000460680.1	-	14	2227	c.1756A>C	c.(1756-1758)Atc>Ctc	p.I586L	BAP1_ENST00000296288.5_Missense_Mutation_p.I568L	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	586					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ATTGGTCTGATGGAGGGCGAG	0.597			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							17	36					0	0	0	0	G	52437288	T	G	52437288	3	3	83	1	0	0	0	0	1	0	0	0	1315	1464	51	5	449	5	BAP1	3	52437288	Missense_Mutation	SNP	T	TCGA-CN-5364-01A-01D-1434-08		52437288	145585142	39	16087											
ARL13B	200894	broad.mit.edu	37	chr3	93714788	93714788	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaagggaatccaaggaGgtaagctgaaaacatttatg	17	7	11	6	0	0	1	0	1	0	0	1	3	1	3	1	3	3	3	1	3	7	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:93714788G>A	ENST00000394222.3	+	2	405	c.130_splice	c.e2+1	p.E44_splice	ARL13B_ENST00000471138.1_Splice_Site_p.E44_splice|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000535334.1_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	44							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AATCCAAGGAGGTAAGCTGAA	0.299													16	28					0	0	0	0	A	93714788	G	A	93714788	5	1	83	1	0	0	0	0	0	0	1	0	931	1014	35	4	136	4	ARL13B	3	93714788	Splice_Site	SNP	G	TCGA-CN-5364-01A-01D-1434-08	41277500	93714788	104307642	40	16088											
STX19	415117	broad.mit.edu	37	chr3	93733390	93733390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgatgctctctccttgttCctctactaaaagagatatct	9	16	6	10	0	3	2	0	1	3	1	6	3	5	2	2	0	2	3	2	0	4	6			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:93733390C>T	ENST00000315099.2	-	2	980	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000535334.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	242	t-SNARE coiled-coil homology.				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TCTCCTTGTTCCTCTACTAAA	0.318													6	56					0	0	0	0	T	93733390	C	T	93733390	3	4	83	1	0	0	0	0	1	0	0	0	15432	864	30	2	164	2	STX19	3	93733390	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	18602	93733390	104289040	41	16089											
BBX	56987	broad.mit.edu	37	chr3	107517519	107517519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaccaagattacacacCttgtcaggacagcagatggc	15	6	10	10	0	1	2	1	0	0	2	1	4	1	4	2	3	3	1	2	3	4	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:107517519C>T	ENST00000415149.2	+	15	2740	c.2413C>T	c.(2413-2415)Ctt>Ttt	p.L805F	BBX_ENST00000406780.1_Missense_Mutation_p.L805F|BBX_ENST00000416476.2_Silent_p.T498T|BBX_ENST00000325805.8_Missense_Mutation_p.L835F|BBX_ENST00000402543.1_Missense_Mutation_p.L785F	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GATTACACACCTTGTCAGGAC	0.473													3	70					0	0	0	0	T	107517519	C	T	107517519	3	4	83	1	0	0	0	0	1	0	0	0	1347	681	24	4	2553	4	BBX	3	107517519	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	13784129	107517519	90504911	42	16090											
LSAMP	4045	broad.mit.edu	37	chr3	115529219	115529219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagcagccacagtggtacgGccagactgatggatccattt	10	8	11	12	1	0	2	0	1	0	1	1	3	1	3	4	3	3	2	4	3	1	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:115529219G>A	ENST00000490035.1	-	7	1461	c.962C>T	c.(961-963)gCc>gTc	p.A321V	LSAMP_ENST00000539563.1_Missense_Mutation_p.A341V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	321					cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.A321V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CAGTGGTACGGCCAGACTGAT	0.423													13	21					0	0	0	0	A	115529219	G	A	115529219	3	1	83	1	0	0	0	0	1	0	0	0	9112	1203	42	4	58	4	LSAMP	3	115529219	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	8011700	115529219	82493211	43	16091											
ATP2C1	27032	broad.mit.edu	37	chr3	130718428	130718428	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatgcagttcttggatccAtcatgggacaattactagtt	10	14	9	8	0	2	0	1	0	1	0	3	2	3	2	1	2	2	4	1	2	4	6			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:130718428A>C	ENST00000510168.1	+	27	3104	c.2554A>C	c.(2554-2556)Atc>Ctc	p.I852L	ATP2C1_ENST00000504381.1_Missense_Mutation_p.I797L|ATP2C1_ENST00000533801.2_Missense_Mutation_p.I847L|ATP2C1_ENST00000513801.1_Missense_Mutation_p.I836L|ATP2C1_ENST00000507488.2_Missense_Mutation_p.I836L|ATP2C1_ENST00000508532.1_Missense_Mutation_p.I852L|ATP2C1_ENST00000505330.1_Missense_Mutation_p.I836L|ATP2C1_ENST00000428331.2_Missense_Mutation_p.I852L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.I852L|ATP2C1_ENST00000504948.1_Missense_Mutation_p.I836L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.I886L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.I852L|ATP2C1_ENST00000328560.8_Missense_Mutation_p.I852L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	852					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TCTTGGATCCATCATGGGACA	0.393									Hailey-Hailey disease				21	123					0	0	0	0	C	130718428	A	C	130718428	3	2	83	1	0	0	0	0	1	0	0	0	1147	217	8	5	2656	5	ATP2C1	3	130718428	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08	15189209	130718428	67304002	44	16092											
AADACL2	344752	broad.mit.edu	37	chr3	151451836	151451836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatattatggggctaaaaGctctctgtttggggctgctt	7	14	14	6	0	1	0	0	0	1	0	2	1	1	1	0	5	2	5	0	5	4	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:151451836G>A	ENST00000356517.3	+	1	122	c.13G>A	c.(13-15)Gct>Act	p.A5T		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	5						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGGGCTAAAAGCTCTCTGTTT	0.383													4	45					0	0	0	0	A	151451836	G	A	151451836	3	1	83	1	0	0	0	0	1	0	0	0	11	971	34	4	15	4	AADACL2	3	151451836	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	20733408	151451836	46570594	45	16093											
SLC7A14	57709	broad.mit.edu	37	chr3	170198764	170198764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgacaaaaccatcaatgTcactctcaggttggtatcga	13	11	7	10	1	3	1	3	1	1	0	5	2	3	1	1	2	1	2	1	2	4	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:170198764T>C	ENST00000231706.4	-	7	1622	c.1307A>G	c.(1306-1308)gAc>gGc	p.D436G	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	436						integral to membrane	amino acid transmembrane transporter activity	p.D436G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACCATCAATGTCACTCTCAGG	0.498													18	115					0	0	0	0	C	170198764	T	C	170198764	3	2	83	1	0	0	0	0	1	0	0	0	14784	1667	58	5	1016	5	SLC7A14	3	170198764	Missense_Mutation	SNP	T	TCGA-CN-5364-01A-01D-1434-08	18746928	170198764	27823666	46	16094											
TNIK	23043	broad.mit.edu	37	chr3	170802049	170802049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttgggtttacatttaccaCcgaaatctttcttgcttcat	8	17	7	9	1	3	0	1	0	2	0	3	1	3	0	2	2	3	3	2	2	3	8			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:170802049C>A	ENST00000436636.2	-	26	3408	c.3064G>T	c.(3064-3066)Gtg>Ttg	p.V1022L	TNIK_ENST00000341852.6_Missense_Mutation_p.V938L|TNIK_ENST00000284483.8_Missense_Mutation_p.V1014L|TNIK_ENST00000538048.1_Missense_Mutation_p.V974L|TNIK_ENST00000488470.1_Missense_Mutation_p.V967L|TNIK_ENST00000460047.1_Missense_Mutation_p.V959L|TNIK_ENST00000475336.1_Missense_Mutation_p.V930L|TNIK_ENST00000470834.1_Missense_Mutation_p.V985L|TNIK_ENST00000369326.5_Missense_Mutation_p.V1000L|TNIK_ENST00000357327.5_Missense_Mutation_p.V993L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1022	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACATTTACCACCGAAATCTTT	0.403													12	190					0.00136819	0.00142292	1	0	A	170802049	C	A	170802049	3	1	83	1	0	0	0	0	1	0	0	0	16407	507	18	4	1050	4	TNIK	3	170802049	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	603285	170802049	27220381	47	16095											
ECT2	1894	broad.mit.edu	37	chr3	172482216	172482216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaccccgtaagcgcccatCagctgagcattccctttcca	8	9	6	18	2	1	1	1	1	0	0	4	1	4	1	6	0	3	3	6	0	1	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:172482216C>T	ENST00000417960.1	+	12	1598	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L	ECT2_ENST00000540509.1_Missense_Mutation_p.S406L|ECT2_ENST00000427830.1_Missense_Mutation_p.S375L|ECT2_ENST00000392692.3_Missense_Mutation_p.S406L|ECT2_ENST00000232458.5_Missense_Mutation_p.S375L|ECT2_ENST00000441497.2_Missense_Mutation_p.S375L	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	375					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAGCGCCCATCAGCTGAGCAT	0.453													6	191					0	0	0	0	T	172482216	C	T	172482216	3	4	83	1	0	0	0	0	1	0	0	0	4937	838	29	2	1162	2	ECT2	3	172482216	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	1680167	172482216	25540214	48	16096											
MAP3K13	9175	broad.mit.edu	37	chr3	185191117	185191117	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacaggacatagcaacctgCgccaacaacctgaggtattt	13	7	10	11	1	0	1	0	1	0	0	0	3	0	3	3	3	5	2	3	3	5	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:185191117C>T	ENST00000265026.3	+	11	2332	c.1998C>T	c.(1996-1998)tgC>tgT	p.C666C	MAP3K13_ENST00000443863.1_Silent_p.C522C|MAP3K13_ENST00000446828.1_Silent_p.C459C|MAP3K13_ENST00000535426.1_Silent_p.C522C|MAP3K13_ENST00000424227.1_Silent_p.C666C	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	666					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.C666C(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TAGCAACCTGCGCCAACAACC	0.587													123	173					0	0	0	0	T	185191117	C	T	185191117	2	4	83	1	0	0	0	0	0	0	0	1	9316	776	27	1		1	MAP3K13	3	185191117	Silent	SNP	C	TCGA-CN-5364-01A-01D-1434-08	12708901	185191117	12831313	49	16097											
LPP	4026	broad.mit.edu	37	chr3	188590462	188590462	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcgatgttctgtgtgcaagGagcctattatgccagccccg	7	10	12	12	3	1	0	0	0	1	0	1	2	1	1	4	1	4	2	4	1	3	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:188590462G>T	ENST00000312675.4	+	10	1867	c.1621G>T	c.(1621-1623)Gag>Tag	p.E541*	LPP_ENST00000543006.1_Nonsense_Mutation_p.E541*	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	541	LIM zinc-binding 3.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TGTGTGCAAGGAGCCTATTAT	0.532			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								9	154					2.80697e-09	3.1731e-09	1	0	T	188590462	G	T	188590462	4	4	83	1	0	0	0	0	0	1	0	0	8987	1175	41	2	1651	2	LPP	3	188590462	Nonsense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	3399345	188590462	9431968	50	16098											
TP63	8626	broad.mit.edu	37	chr3	189526287	189526287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgacgtgtccttccagcagtCgagcaccgccaagtcggcca	8	6	11	16	5	0	0	0	0	0	0	4	2	2	0	5	1	2	2	5	1	1	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:189526287C>T	ENST00000264731.3	+	4	640	c.551C>T	c.(550-552)tCg>tTg	p.S184L	TP63_ENST00000354600.5_Missense_Mutation_p.S90L|TP63_ENST00000449992.1_Intron|TP63_ENST00000440651.2_Missense_Mutation_p.S184L|TP63_ENST00000418709.2_Missense_Mutation_p.S184L|TP63_ENST00000456148.1_Missense_Mutation_p.S90L|TP63_ENST00000320472.5_Missense_Mutation_p.S184L|TP63_ENST00000392461.3_Missense_Mutation_p.S90L|TP63_ENST00000392460.3_Missense_Mutation_p.S184L|TP63_ENST00000437221.1_Missense_Mutation_p.S90L|TP63_ENST00000392463.2_Missense_Mutation_p.S90L|TP63_ENST00000382063.4_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	184			S -> L (in head and neck cancer).		anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S184L(1)|p.S184W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTCCAGCAGTCGAGCACCGCC	0.627										HNSCC(45;0.13)			19	108					0	0	0	0	T	189526287	C	T	189526287	3	4	83	1	0	0	0	0	1	0	0	0	16487	893	31	1	611	1	TP63	3	189526287	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	935825	189526287	8496143	51	16099											
CXXC4	80319	broad.mit.edu	37	chr4	105412204	105412204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gagtgaagggctgtcatgacGatgacccctggaggtaatga	11	8	15	7	1	1	4	1	4	0	0	1	7	1	5	2	3	0	2	2	3	2	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr4:105412204G>C	ENST00000394767.2	-	2	1206	c.756C>G	c.(754-756)atC>atG	p.I252M	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_Missense_Mutation_p.I83M|CXXC4_ENST00000466963.1_Intron	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	83					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	p.I83M(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		CTGTCATGACGATGACCCCTG	0.577													27	110					0	0	0	0	C	105412204	G	C	105412204	3	2	83	1	0	0	0	0	1	0	0	0	4130	1048	37	3	355	3	CXXC4	4	105412204	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08		105412204	85742072	52	16100											
FAT4	79633	broad.mit.edu	37	chr4	126402801	126402801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccatgttggagccttttGgtgtgaacagtctggaagta	8	13	14	6	0	1	1	0	1	1	0	1	3	1	3	2	3	3	2	2	3	3	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr4:126402801G>T	ENST00000394329.3	+	15	12737	c.12724G>T	c.(12724-12726)Ggt>Tgt	p.G4242C	FAT4_ENST00000335110.5_Missense_Mutation_p.G2483C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4242	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G4242C(1)|p.G4185C(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGCCTTTTGGTGTGAACAG	0.433													16	74					1.5739e-10	1.79031e-10	1	0	T	126402801	G	T	126402801	3	4	83	1	0	0	0	0	1	0	0	0	5737	1348	47	4	12782	4	FAT4	4	126402801	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	20990597	126402801	64751475	53	16101											
SH3RF1	57630	broad.mit.edu	37	chr4	170042098	170042098	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccccttttctcagctctagTtcatcctctttccgaggagt	5	16	6	14	1	4	0	2	0	3	0	8	2	7	1	4	1	1	2	4	1	1	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr4:170042098T>C	ENST00000284637.9	-	8	1730	c.1389A>G	c.(1387-1389)gaA>gaG	p.E463E	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	463	Interaction with AKT2 (By similarity).|SH3 3.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	p.E463E(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCAGCTCTAGTTCATCCTCTT	0.418													26	73					0	0	0	0	C	170042098	T	C	170042098	2	2	83	1	0	0	0	0	0	0	0	1	14346	1722	60	5		5	SH3RF1	4	170042098	Silent	SNP	T	TCGA-CN-5364-01A-01D-1434-08	43639297	170042098	21112178	54	16102											
GLRA3	8001	broad.mit.edu	37	chr4	175710093	175710093	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttcctttgtggcaaccaAactacaaataagaacaaaaa	18	10	5	8	0	0	1	0	0	0	1	1	1	1	1	2	1	4	2	2	1	8	4	rs144360619		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr4:175710093A>G	ENST00000274093.3	-	2	575	c.71_splice	c.e2-1	p.L25_splice	GLRA3_ENST00000340217.5_Splice_Site_p.L25_splice	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	25					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GTGGCAACCAAACTACAAATA	0.323													7	38					0	0	0	0	G	175710093	A	G	175710093	5	3	83	1	0	0	0	0	0	0	1	0	6507	28	1	5	1357	5	GLRA3	4	175710093	Splice_Site	SNP	A	TCGA-CN-5364-01A-01D-1434-08	5667995	175710093	15444183	55	16103											
MCCC2	64087	broad.mit.edu	37	chr5	70930987	70930987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttctgcaggtcaccattGaaccttctgaagagccttta	10	14	7	10	0	3	3	1	2	2	1	3	3	3	3	3	1	3	1	3	1	4	6			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:70930987G>A	ENST00000340941.6	+	10	1042	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	MCCC2_ENST00000509358.2_Missense_Mutation_p.E305K|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Missense_Mutation_p.E267K	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	305	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GGTCACCATTGAACCTTCTGA	0.373													9	92					0	0	0	0	A	70930987	G	A	70930987	3	1	83	1	0	0	0	0	1	0	0	0	9444	1291	45	2	951	2	MCCC2	5	70930987	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08		70930987	109984273	56	16104											
ZFYVE16	9765	broad.mit.edu	37	chr5	79738953	79738953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttatagctcaggcatttGaaaggatgatgagtccaact	12	12	9	8	0	1	3	1	3	0	0	2	4	2	4	2	2	2	2	2	2	4	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:79738953G>A	ENST00000338008.5	+	5	2611	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.E811K|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.E811K	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	811					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TCAGGCATTTGAAAGGATGAT	0.338													26	143					0	0	0	0	A	79738953	G	A	79738953	3	1	83	1	0	0	0	0	1	0	0	0	17759	1291	45	2	2445	2	ZFYVE16	5	79738953	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	8807966	79738953	101176307	57	16105											
APC	324	broad.mit.edu	37	chr5	112173950	112173950	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaccactgcagcccagAttgccaaagtcatggaagaa	13	7	8	13	0	2	2	1	0	1	2	3	3	2	3	4	1	3	1	4	1	3	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:112173950A>T	ENST00000457016.1	+	16	3039	c.2659A>T	c.(2659-2661)Att>Ttt	p.I887F	APC_ENST00000257430.4_Missense_Mutation_p.I887F|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.I887F			P25054	APC_HUMAN	adenomatous polyposis coli	887	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGCAGCCCAGATTGCCAAAGT	0.468		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			16	46					0	0	0	0	T	112173950	A	T	112173950	3	4	83	1	0	0	0	0	1	0	0	0	764	333	12	5	2717	5	APC	5	112173950	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08	32434997	112173950	68741310	58	16106											
MCC	4163	broad.mit.edu	37	chr5	112458453	112458453	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtcttggtccatgcttcGagagtcctcgttgacctcgt	4	14	11	12	3	1	2	0	1	1	1	6	3	3	2	3	2	1	2	3	2	0	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:112458453G>A	ENST00000302475.4	-	4	948	c.385C>T	c.(385-387)Cga>Tga	p.R129*	MCC_ENST00000408903.3_Nonsense_Mutation_p.R319*|MCC_ENST00000515367.2_Nonsense_Mutation_p.R66*|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	129					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCCATGCTTCGAGAGTCCTCG	0.522													6	60					0	0	0	0	A	112458453	G	A	112458453	4	1	83	1	0	0	0	0	0	1	0	0	9442	1066	37	1	2160	1	MCC	5	112458453	Nonsense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	284503	112458453	68456807	59	16107											
SLC12A2	6558	broad.mit.edu	37	chr5	127420048	127420048	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggctaaaggcagcgaggaAgccaagggccgcttccgcgt	9	4	15	13	5	0	0	0	0	0	0	1	2	1	1	4	4	2	3	4	4	4	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:127420048A>T	ENST00000262461.2	+	1	591	c.402A>T	c.(400-402)gaA>gaT	p.E134D	SLC12A2_ENST00000343225.4_Missense_Mutation_p.E134D	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	134					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCAGCGAGGAAGCCAAGGGCC	0.726													3	9					0	0	0	0	T	127420048	A	T	127420048	3	4	83	1	0	0	0	0	1	0	0	0	14471	69	3	5	404	5	SLC12A2	5	127420048	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08	14961595	127420048	53495212	60	16108											
NEUROG1	4762	broad.mit.edu	37	chr5	134870804	134870804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcagagagcggggaggCggcggcggcacctgagcccc	6	2	21	12	4	1	2	1	1	0	1	1	4	1	3	3	8	2	1	3	8	0	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:134870804C>T	ENST00000314744.4	-	1	835	c.577G>A	c.(577-579)Gcc>Acc	p.A193T		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	193					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCGGGGAGGCGGCGGCGGCA	0.721													14	32					0	0	0	0	T	134870804	C	T	134870804	3	4	83	1	0	0	0	0	1	0	0	0	10422	768	27	1	140	1	NEUROG1	5	134870804	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	7450756	134870804	46044456	61	16109											
PCDHA1	56147	broad.mit.edu	37	chr5	140167198	140167198	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggccacggccagggtGtccgtggaggtggccgacgt	4	7	19	11	4	0	0	0	0	0	0	1	2	1	1	4	6	0	0	4	6	0	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:140167198G>T	ENST00000504120.2	+	1	1323	c.1323G>T	c.(1321-1323)gtG>gtT	p.V441V	PCDHA1_ENST00000394633.3_Silent_p.V441V|PCDHA1_ENST00000378133.3_Silent_p.V441V	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCAGGGTGTCCGTGGAGG	0.662													7	124					1.12685e-05	1.20639e-05	1	0	T	140167198	G	T	140167198	2	4	83	1	0	0	0	0	0	0	0	1	11590	1364	48	4		4	PCDHA1	5	140167198	Silent	SNP	G	TCGA-CN-5364-01A-01D-1434-08	5296394	140167198	40748062	62	16110											
HAVCR2	84868	broad.mit.edu	37	chr5	156522408	156522434	+	In_Frame_Del	DEL	AGAGTCCCGTAAGTCATTGGCCAATCT	AGAGTCCCGTAAGTCATTGGCCAATCT	-																															cctattctgatggttgctccAgagtcccgtaagtcattggc																										TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:156522408_156522434delAGAGTCCCGTAAGTCATTGGCCAATCT	ENST00000307851.4	-	5	1289_1315	c.559_585delAGATTGGCCAATGACTTACGGGACTCT	c.(559-585)del	p.RLANDLRDS187del	HAVCR2_ENST00000522593.1_In_Frame_Del_p.RLANDLRDS159del	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	187						integral to membrane		p.S195C(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGTTGCTCCAGAGTCCCGTAAGTCATTGGCCAATCTAGAGTCCCGT	0.445													16	117	---	---	---	---					-	156522434	AGAGTCCCGTAAGTCATTGGCCAATCT	-	156522408	7	5	83	1	0	1	0	1	0	0	0	0	7024	175	7	0	332	0	HAVCR2	5	156522408	In_Frame_Del	DEL	AGAGTCCCGTAAGTCATTGGCCAATCT	TCGA-CN-5364-01A-01D-1434-08	16355210	156522408	24392852	63	16111											
TFAP2A	7020	broad.mit.edu	37	chr6	10404781	10404781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcgacgcgttgagacactCgggtggtgagagccgccgct	7	6	16	12	6	0	2	0	2	0	2	1	5	0	2	2	2	2	2	2	2	0	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:10404781C>T	ENST00000379613.3	-	4	986	c.730G>A	c.(730-732)Gag>Aag	p.E244K	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000319516.4_Missense_Mutation_p.E238K|TFAP2A_ENST00000379604.2_Missense_Mutation_p.E242K|TFAP2A_ENST00000482890.1_Missense_Mutation_p.E242K|TFAP2A_ENST00000379608.3_Missense_Mutation_p.E236K			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	242					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TTGAGACACTCGGGTGGTGAG	0.706													6	11					0	0	0	0	T	10404781	C	T	10404781	3	4	83	1	0	0	0	0	1	0	0	0	15881	893	31	1	605	1	TFAP2A	6	10404781	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08		10404781	160710286	64	16112											
HSPA1L	3305	broad.mit.edu	37	chr6	31778584	31778584	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcagcaggtcctgtaccTtctcagacttgtcccccatc	7	10	8	16	0	1	1	1	0	1	1	5	1	3	1	4	1	3	4	4	1	1	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:31778584T>C	ENST00000375654.4	-	2	1355	c.1166A>G	c.(1165-1167)aAg>aGg	p.K389R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.K389R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	389					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTCCTGTACCTTCTCAGACTT	0.587													16	71					0	0	0	0	C	31778584	T	C	31778584	3	2	83	1	0	0	0	0	1	0	0	0	7462	1609	56	5	763	5	HSPA1L	6	31778584	Missense_Mutation	SNP	T	TCGA-CN-5364-01A-01D-1434-08	21373803	31778584	139336483	65	16113											
EPHA7	2045	broad.mit.edu	37	chr6	94120846	94120846	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggcacacctggtatgttcGtatcggggtatagttctcat	7	15	11	8	2	1	0	1	0	1	0	4	0	1	0	1	4	0	6	1	4	4	7			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:94120846G>A	ENST00000369303.4	-	3	389	c.205C>T	c.(205-207)Cga>Tga	p.R69*	EPHA7_ENST00000369297.1_Nonsense_Mutation_p.R69*	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	69						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R69*(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGGTATGTTCGTATCGGGGTA	0.393													31	99					0	0	0	0	A	94120846	G	A	94120846	4	1	83	1	0	0	0	0	0	1	0	0	5210	1153	40	1	2851	1	EPHA7	6	94120846	Nonsense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	62342262	94120846	76994221	66	16114											
ROS1	6098	broad.mit.edu	37	chr6	117630083	117630083	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatctcccaaatcagaattCcaaaagacctaagaatagta	20	8	4	9	0	2	3	1	0	1	3	4	3	3	3	3	0	0	1	3	0	9	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:117630083C>A	ENST00000368508.3	-	41	6641	c.6443G>T	c.(6442-6444)gGa>gTa	p.G2148V	ROS1_ENST00000368507.3_Missense_Mutation_p.G2142V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2148	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATCAGAATTCCAAAAGACCT	0.393			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								13	53					6.31663e-08	7.00992e-08	1	0	A	117630083	C	A	117630083	3	1	83	1	0	0	0	0	1	0	0	0	13616	855	30	2	612	2	ROS1	6	117630083	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	23509237	117630083	53484984	67	16115											
SLC2A12	154091	broad.mit.edu	37	chr6	134323170	134323170	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgatatttgttccaaagaGcatccctttgtctcaggtat	10	16	7	8	0	1	2	1	1	1	1	4	2	3	2	2	1	1	3	2	1	3	6			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:134323170G>T	ENST00000275230.5	-	4	1820	c.1665C>A	c.(1663-1665)tgC>tgA	p.C555*		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	555						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	p.C555*(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GTTCCAAAGAGCATCCCTTTG	0.363													16	67					1.3612e-06	1.4924e-06	1	0	T	134323170	G	T	134323170	4	4	83	1	0	0	0	0	0	1	0	0	14629	963	34	4	196	4	SLC2A12	6	134323170	Nonsense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	16693087	134323170	36791897	68	16116											
HIVEP2	3097	broad.mit.edu	37	chr6	143081528	143081528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatagctgatcaacgaaGaatgtcccagggaactatct	15	8	8	10	1	2	2	1	1	1	1	3	4	3	3	2	1	3	1	2	1	7	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:143081528G>T	ENST00000367603.2	-	9	6639	c.5897C>A	c.(5896-5898)tCt>tAt	p.S1966Y	HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1966Y|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1966Y	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1966					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GATCAACGAAGAATGTCCCAG	0.483													35	115					4.3181e-19	5.2046e-19	1	0	T	143081528	G	T	143081528	3	4	83	1	0	0	0	0	1	0	0	0	7237	942	33	2	1451	2	HIVEP2	6	143081528	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	8758358	143081528	28033539	69	16117											
SNX8	29886	broad.mit.edu	37	chr7	2296595	2296595	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gacgtggatgagctgcgtctCctggtgcaggcagtacaggg	7	8	17	9	2	1	1	0	1	1	0	2	3	1	2	1	4	4	4	1	4	1	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:2296595C>G	ENST00000222990.3	-	10	1240	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	400					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		AGCTGCGTCTCCTGGTGCAGG	0.622													4	29					0	0	0	0	G	2296595	C	G	2296595	3	3	83	1	0	0	0	0	1	0	0	0	14996	864	30	2	207	2	SNX8	7	2296595	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08		2296595	156842068	70	16118											
SKAP2	8935	broad.mit.edu	37	chr7	26779555	26779555	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttagaacaaaaggaaggtcTtgtgctgcaattggaggaaa	15	10	12	4	0	1	1	0	0	1	1	1	4	1	4	0	4	3	2	0	4	7	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:26779555T>C	ENST00000345317.2	-	5	649	c.336A>G	c.(334-336)caA>caG	p.Q112Q	SKAP2_ENST00000539623.1_5'UTR|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	112					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						AAGGAAGGTCTTGTGCTGCAA	0.378													11	45					0	0	0	0	C	26779555	T	C	26779555	2	2	83	1	0	0	0	0	0	0	0	1	14444	1606	56	5		5	SKAP2	7	26779555	Silent	SNP	T	TCGA-CN-5364-01A-01D-1434-08	24482960	26779555	132359108	71	16119											
TBRG4	9238	broad.mit.edu	37	chr7	45148633	45148634	+	Frame_Shift_Ins	INS	-	-	A																															ggtggtccacctgcttctctINSatgtagggagtagatgctcg																										TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:45148633_45148634insA	ENST00000258770.3	-	2	324_325	c.203_204insT	c.(202-204)agafs	p.R68fs	TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000395655.4_Frame_Shift_Ins_p.R68fs|TBRG4_ENST00000494076.1_Frame_Shift_Ins_p.R68fs|TBRG4_ENST00000361278.3_Frame_Shift_Ins_p.R68fs	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	68					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CCTGCTTCTCTATGTAGGGAGT	0.554													34	108	---	---	---	---					A	45148634	-	A	45148633	7	5	83	1	0	1	1	0	0	0	0	0	15743	1512	53	0	1731	0	TBRG4	7	45148633	Frame_Shift_Ins	INS	-	TCGA-CN-5364-01A-01D-1434-08	18369078	45148633	113990030	72	16120											
FIGNL1	63979	broad.mit.edu	37	chr7	50513222	50513222	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttcaatttcttcttcactGaggcaacactgctctttgga	8	16	7	10	0	5	1	2	1	3	0	5	2	5	2	0	2	2	3	0	2	2	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:50513222G>A	ENST00000419119.1	-	2	3317	c.1764C>T	c.(1762-1764)ctC>ctT	p.L588L	FIGNL1_ENST00000433017.1_Silent_p.L588L|FIGNL1_ENST00000356889.4_Silent_p.L588L|FIGNL1_ENST00000395556.2_Silent_p.L588L			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	588					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CTTCTTCACTGAGGCAACACT	0.453													15	118					0	0	0	0	A	50513222	G	A	50513222	2	1	83	1	0	0	0	0	0	0	0	1	5937	1277	45	2		2	FIGNL1	7	50513222	Silent	SNP	G	TCGA-CN-5364-01A-01D-1434-08	5364589	50513222	108625441	73	16121											
SEMA3C	10512	broad.mit.edu	37	chr7	80439970	80439970	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttggggttgaaagagcaGcgtccttttccagattcaca	10	11	11	9	2	1	3	1	1	0	2	3	3	3	3	2	2	2	3	2	2	1	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:80439970G>A	ENST00000265361.3	-	6	1056	c.495C>T	c.(493-495)cgC>cgT	p.R165R	SEMA3C_ENST00000544525.1_Silent_p.R183R|SEMA3C_ENST00000419255.2_Silent_p.R165R|SEMA3C_ENST00000536800.1_Silent_p.R17R	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	165	Sema.				immune response|response to drug	membrane	receptor activity	p.R165R(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGAAAGAGCAGCGTCCTTTTC	0.353													21	128					0	0	0	0	A	80439970	G	A	80439970	2	1	83	1	0	0	0	0	0	0	0	1	14113	958	34	4		4	SEMA3C	7	80439970	Silent	SNP	G	TCGA-CN-5364-01A-01D-1434-08	29926748	80439970	78698693	74	16122											
PCLO	27445	broad.mit.edu	37	chr7	82583457	82583457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagattctatgatagaaGatgccatatcagataaggaa	17	10	8	6	0	2	5	1	1	1	4	2	6	2	6	1	1	2	0	1	1	7	6			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:82583457G>T	ENST00000423517.2	-	5	7149	c.6812C>A	c.(6811-6813)tCt>tAt	p.S2271Y	PCLO_ENST00000333891.8_Missense_Mutation_p.S2271Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2202					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S2202Y(1)|p.S2271Y(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATGATAGAAGATGCCATATC	0.408													25	84					6.36457e-07	7.02032e-07	1	0	T	82583457	G	T	82583457	3	4	83	1	0	0	0	0	1	0	0	0	11654	942	33	2	8717	2	PCLO	7	82583457	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	2143487	82583457	76555206	75	16123											
ASNS	440	broad.mit.edu	37	chr7	97482673	97482673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataggaagaaaatcgatgatCtagaaatgggactctcagtt	16	10	10	5	1	2	3	1	1	2	2	4	6	2	5	0	2	0	1	0	2	6	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:97482673C>T	ENST00000175506.4	-	12	1792	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	ASNS_ENST00000444334.1_Missense_Mutation_p.D401N|ASNS_ENST00000455086.1_Missense_Mutation_p.D339N|ASNS_ENST00000422745.1_Missense_Mutation_p.D401N|ASNS_ENST00000394308.3_Missense_Mutation_p.D422N|ASNS_ENST00000394309.3_Missense_Mutation_p.D422N|ASNS_ENST00000437628.1_Missense_Mutation_p.D339N	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	422	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AATCGATGATCTAGAAATGGG	0.368													26	69					0	0	0	0	T	97482673	C	T	97482673	3	4	83	1	0	0	0	0	1	0	0	0	1052	913	32	2	433	2	ASNS	7	97482673	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	14899216	97482673	61655990	76	16124											
RP1L1	94137	broad.mit.edu	37	chr8	10467546	10467546	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcaatttcctctaactgCgcctcttcttcttgctgtcc	4	18	4	15	1	6	0	1	0	5	0	8	0	8	0	3	0	3	1	3	0	2	6			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr8:10467546C>T	ENST00000382483.3	-	4	4285	c.4062G>A	c.(4060-4062)gcG>gcA	p.A1354A		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1354					intracellular signal transduction			p.A1354A(1)		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)		cctctaactgcgcctcttctt	0.478													34	90					0	0	0	0	T	10467546	C	T	10467546	2	4	83	1	0	0	0	0	0	0	0	1	13618	755	27	1		1	RP1L1	8	10467546	Silent	SNP	C	TCGA-CN-5364-01A-01D-1434-08		10467546	135896476	77	16125											
COL14A1	7373	broad.mit.edu	37	chr8	121210093	121210093	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagaatagaatggcacttGaatgcatttagcacaaaaga	17	8	8	8	0	0	4	0	1	0	3	0	4	0	4	1	1	2	3	1	1	7	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr8:121210093G>C	ENST00000297848.3	+	7	906	c.636G>C	c.(634-636)ttG>ttC	p.L212F	COL14A1_ENST00000537875.1_Missense_Mutation_p.L212F|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000309791.4_Missense_Mutation_p.L212F	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	212	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATGGCACTTGAATGCATTTA	0.388													15	119					0	0	0	0	C	121210093	G	C	121210093	3	2	83	1	0	0	0	0	1	0	0	0	3701	1281	45	2	658	2	COL14A1	8	121210093	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	110742547	121210093	25153929	78	16126											
COL22A1	169044	broad.mit.edu	37	chr8	139696679	139696679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcactcaccttggttcctaGgggtccagggagtccaggtg	7	9	14	11	0	1	0	1	0	0	0	4	1	4	1	4	5	1	2	4	5	1	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr8:139696679G>T	ENST00000303045.6	-	39	3447	c.3001C>A	c.(3001-3003)Cta>Ata	p.L1001I	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.L1001I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1001	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.L1001I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGGTTCCTAGGGGTCCAGGG	0.488										HNSCC(7;0.00092)			52	264					6.20943e-19	7.38638e-19	1	0	T	139696679	G	T	139696679	3	4	83	1	0	0	0	0	1	0	0	0	3711	991	35	4	1987	4	COL22A1	8	139696679	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	18486586	139696679	6667343	79	16127											
SMARCA2	6595	broad.mit.edu	37	chr9	2086844	2086844	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagattcggtggaaatacAtgatagtggacgaaggccac	14	9	12	6	2	0	2	0	1	0	1	1	5	0	4	1	4	1	0	1	4	6	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:2086844A>T	ENST00000382203.1	+	18	2751	c.2542A>T	c.(2542-2544)Atg>Ttg	p.M848L	SMARCA2_ENST00000349721.2_Missense_Mutation_p.M848L|SMARCA2_ENST00000357248.2_Missense_Mutation_p.M848L|SMARCA2_ENST00000382194.1_Missense_Mutation_p.M848L			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	848	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.M848L(1)|p.M844L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GTGGAAATACATGATAGTGGA	0.478													26	104					0	0	0	0	T	2086844	A	T	2086844	3	4	83	1	0	0	0	0	1	0	0	0	14857	217	8	5	2608	5	SMARCA2	9	2086844	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08		2086844	139126587	80	16128											
RFX3	5991	broad.mit.edu	37	chr9	3293119	3293119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagccccataaaaattgatCttattaattttccaaaagag	16	13	5	7	0	1	2	0	1	1	1	2	2	2	2	3	0	1	1	3	0	8	7			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:3293119C>T	ENST00000382004.3	-	7	1000	c.689G>A	c.(688-690)aGa>aAa	p.R230K	RFX3_ENST00000358730.2_Missense_Mutation_p.R230K|RFX3_ENST00000302303.1_Missense_Mutation_p.R230K	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	230					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		AAAAATTGATCTTATTAATTT	0.408													19	91					0	0	0	0	T	3293119	C	T	3293119	3	4	83	1	0	0	0	0	1	0	0	0	13346	913	32	2	1764	2	RFX3	9	3293119	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	1206275	3293119	137920312	81	16129											
KIAA1432	57589	broad.mit.edu	37	chr9	5713936	5713936	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacaccccattttaaggaaGaacagtgtgctccagcatta	13	9	9	10	0	0	1	0	0	0	1	1	3	1	3	3	2	3	2	3	2	4	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:5713936G>C	ENST00000414202.2	+	4	564	c.373G>C	c.(373-375)Gaa>Caa	p.E125Q	KIAA1432_ENST00000381532.2_Missense_Mutation_p.E46Q|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E46Q|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E46Q|KIAA1432_ENST00000251879.6_Missense_Mutation_p.E125Q	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	125						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTTTAAGGAAGAACAGTGTGC	0.393													16	73					0	0	0	0	C	5713936	G	C	5713936	3	2	83	1	0	0	0	0	1	0	0	0	8284	943	33	2	146	2	KIAA1432	9	5713936	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	2420817	5713936	135499495	82	16130											
PTPRD	5789	broad.mit.edu	37	chr9	8633337	8633337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccgcaaaactgtgagtctgGtggatacacttatttctccc	9	12	8	12	1	2	1	0	1	2	0	3	2	2	2	2	2	2	1	2	2	4	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:8633337G>T	ENST00000381196.4	-	11	875	c.332C>A	c.(331-333)aCc>aAc	p.T111N	PTPRD_ENST00000356435.5_Missense_Mutation_p.T111N|PTPRD_ENST00000355233.5_Missense_Mutation_p.T111N|PTPRD_ENST00000397617.3_Missense_Mutation_p.T111N|PTPRD_ENST00000397606.3_Missense_Mutation_p.T111N|PTPRD_ENST00000397611.3_Missense_Mutation_p.T111N|PTPRD_ENST00000463477.1_Missense_Mutation_p.T111N|PTPRD_ENST00000540109.1_Missense_Mutation_p.T111N|PTPRD_ENST00000360074.4_Missense_Mutation_p.T111N|PTPRD_ENST00000537002.1_Missense_Mutation_p.T111N|PTPRD_ENST00000358503.5_Missense_Mutation_p.T111N|PTPRD_ENST00000486161.1_Missense_Mutation_p.T111N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	111	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTGAGTCTGGTGGATACACT	0.423										TSP Lung(15;0.13)			34	108					6.97489e-18	8.18987e-18	1	0	T	8633337	G	T	8633337	3	4	83	1	0	0	0	0	1	0	0	0	12881	1261	44	4	5606	4	PTPRD	9	8633337	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	2919401	8633337	132580094	83	16131											
UNC13B	10497	broad.mit.edu	37	chr9	35403770	35403770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggaaatgaggaggggcccGagtcctatgagttgcagata	11	8	16	6	1	0	3	0	2	0	1	1	6	1	5	2	4	1	2	2	4	3	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:35403770G>A	ENST00000378495.3	+	39	4738	c.4516G>A	c.(4516-4518)Gag>Aag	p.E1506K	UNC13B_ENST00000396787.1_Missense_Mutation_p.E1537K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E1525K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1506	C2 3.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGGGCCCGAGTCCTATGA	0.552													18	54					0	0	0	0	A	35403770	G	A	35403770	3	1	83	1	0	0	0	0	1	0	0	0	17081	1059	37	1	4670	1	UNC13B	9	35403770	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	26770433	35403770	105809661	84	16132											
FRMD3	257019	broad.mit.edu	37	chr9	86153021	86153021	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtggcaggagatctcCgagtcgtccagcagccggat	8	8	15	10	3	1	1	0	0	1	1	4	5	2	3	3	4	2	2	3	4	0	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:86153021C>A	ENST00000304195.3	-	1	332	c.126G>T	c.(124-126)tcG>tcT	p.S42S	FRMD3_ENST00000376438.1_Silent_p.S42S	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	42	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGAGATCTCCGAGTCGTCCA	0.652													6	30					0.00116845	0.00122217	1	0	A	86153021	C	A	86153021	2	1	83	1	0	0	0	0	0	0	0	1	6098	639	23	3		3	FRMD3	9	86153021	Silent	SNP	C	TCGA-CN-5364-01A-01D-1434-08	50749251	86153021	55060410	85	16133											
ZNF883	169834	broad.mit.edu	37	chr9	115760233	115760233	+	RNA	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatgactaaaggttttttCacattcattacactcataag	13	15	4	9	0	3	1	3	1	0	0	3	1	3	1	1	1	1	1	1	1	5	8			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:115760233C>A	ENST00000427548.1	-	0	1580							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AAGGTTTTTTCACATTCATTA	0.378													13	62					9.31168e-06	1.0028e-05	1	0	A	115760233	C	A	115760233	1	1	83	0	1	0	0	0	0	0	0	0	18291	835	29	2		2	ZNF883	9	115760233	RNA	SNP	C	TCGA-CN-5364-01A-01D-1434-08	29607212	115760233	25453198	86	16134											
OR1L4	254973	broad.mit.edu	37	chr9	125486771	125486771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctacttatgtctcgcttgtCtttctgtgcctctcacatca	5	17	6	13	1	5	0	2	0	4	0	7	0	5	0	1	0	2	2	1	0	2	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:125486771C>G	ENST00000259466.1	+	1	503	c.503C>G	c.(502-504)tCt>tGt	p.S168C		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TCTCGCTTGTCTTTCTGTGCC	0.498													20	305					0	0	0	0	G	125486771	C	G	125486771	3	3	83	1	0	0	0	0	1	0	0	0	11036	913	32	2	505	2	OR1L4	9	125486771	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	9726538	125486771	15726660	87	16135											
NUP214	8021	broad.mit.edu	37	chr9	134010311	134010311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaaaagcacccagagatAtttgtgaactttatggagcc	15	9	10	7	0	0	3	0	1	0	2	0	6	0	4	2	1	3	1	2	1	6	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:134010311A>G	ENST00000359428.5	+	8	1002	c.858A>G	c.(856-858)atA>atG	p.I286M	RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.I286M|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.I286M|RP11-544A12.4_ENST00000587408.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	286					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.I286M(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ACCCAGAGATATTTGTGAACT	0.398			T	"DEK, SET, ABL1"	"AML, T-ALL"								13	73					0	0	0	0	G	134010311	A	G	134010311	3	3	83	1	0	0	0	0	1	0	0	0	10833	439	16	5	888	5	NUP214	9	134010311	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08	8523540	134010311	7203120	88	16136											
SETX	23064	broad.mit.edu	37	chr9	135140296	135140296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcactgcatcatgtctaTagtttttgtcacaggtctta	8	18	6	9	0	6	0	3	0	3	0	6	0	6	0	0	1	1	2	0	1	3	6			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:135140296T>C	ENST00000372169.2	-	27	7633	c.7451A>G	c.(7450-7452)tAt>tGt	p.Y2484C	SETX_ENST00000224140.5_Missense_Mutation_p.Y2455C|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000393220.1_Missense_Mutation_p.Y2422C			Q7Z333	SETX_HUMAN	senataxin	2455					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.Y2455C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATCATGTCTATAGTTTTTGTC	0.478													58	117					0	0	0	0	C	135140296	T	C	135140296	3	2	83	1	0	0	0	0	1	0	0	0	14228	1406	49	5	673	5	SETX	9	135140296	Missense_Mutation	SNP	T	TCGA-CN-5364-01A-01D-1434-08	1129985	135140296	6073135	89	16137											
NMT2	9397	broad.mit.edu	37	chr10	15175327	15175327	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggcgtacgttgtctttatCtggttcaattgcaccatgag	7	16	10	8	2	3	1	1	1	2	0	3	1	3	1	1	2	2	4	1	2	3	7			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr10:15175327C>G	ENST00000378165.4	-	4	507	c.427G>C	c.(427-429)Gat>Cat	p.D143H	NMT2_ENST00000540259.1_5'UTR|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.D130H|NMT2_ENST00000378150.1_Missense_Mutation_p.D130H	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	143					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	p.D143H(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTGTCTTTATCTGGTTCAATT	0.398													24	109					0	0	0	0	G	15175327	C	G	15175327	3	3	83	1	0	0	0	0	1	0	0	0	10574	913	32	2	1105	2	NMT2	10	15175327	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08		15175327	120359420	90	16138											
PCDH15	65217	broad.mit.edu	37	chr10	55591229	55591229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccggatctccagaatgcGtcctccttccccataatacg	9	10	7	15	3	1	1	0	0	1	1	6	2	5	2	6	1	2	0	6	1	3	3	rs138398244		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr10:55591229G>A	ENST00000373965.2	-	31	4463	c.4069C>T	c.(4069-4071)Cgc>Tgc	p.R1357C	PCDH15_ENST00000395432.2_Missense_Mutation_p.R1313C|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1350C|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1350C|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1279C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1357C|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1350C|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1328C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1355C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1350C|PCDH15_ENST00000409834.1_Missense_Mutation_p.R961C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1350					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R1355C(2)|p.R1350C(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCAGAATGCGTCCTCCTTCC	0.413										HNSCC(58;0.16)			22	92					0	0	0	0	A	55591229	G	A	55591229	3	1	83	1	0	0	0	0	1	0	0	0	11582	1145	40	1	3454	1	PCDH15	10	55591229	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	40415902	55591229	79943518	91	16139											
TNKS2	80351	broad.mit.edu	37	chr10	93586790	93586790	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagcatggtgcctgtgtaaAtgcaatggacttgtggcaat	10	11	12	8	0	0	0	0	0	0	0	0	1	0	1	2	3	3	4	2	3	4	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr10:93586790A>G	ENST00000371627.4	+	8	1191	c.812A>G	c.(811-813)aAt>aGt	p.N271S		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	271					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCCTGTGTAAATGCAATGGAC	0.368													15	81					0	0	0	0	G	93586790	A	G	93586790	3	3	83	1	0	0	0	0	1	0	0	0	16415	101	4	5	842	5	TNKS2	10	93586790	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08	37995561	93586790	41947957	92	16140											
RNH1	6050	broad.mit.edu	37	chr11	494726	494726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagggatggcttgtccttctCcagggcctgcagccggtcct	4	10	13	14	1	1	0	0	0	1	0	4	1	3	1	5	4	2	2	5	4	0	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:494726C>G	ENST00000534797.1	-	9	2758	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	RNH1_ENST00000438658.2_Missense_Mutation_p.E451Q|RNH1_ENST00000356187.5_Missense_Mutation_p.E451Q|RNH1_ENST00000533410.1_Missense_Mutation_p.E451Q|RNH1_ENST00000397615.2_Missense_Mutation_p.E451Q|RNH1_ENST00000354420.2_Missense_Mutation_p.E451Q|RNH1_ENST00000397604.3_Missense_Mutation_p.E451Q|RNH1_ENST00000397614.1_Missense_Mutation_p.E451Q			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	451					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	p.E451Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGTCCTTCTCCAGGGCCTGC	0.657													21	131					0	0	0	0	G	494726	C	G	494726	3	3	83	1	0	0	0	0	1	0	0	0	13589	864	30	2	38	2	RNH1	11	494726	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08		494726	134511790	93	16141											
KCNA4	3739	broad.mit.edu	37	chr11	30032400	30032400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccatctctagatactctGacttgtcccccagggaagaa	10	11	7	13	0	2	3	0	1	2	2	5	4	4	4	3	1	1	0	3	1	4	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:30032400G>A	ENST00000328224.6	-	2	3059	c.1826C>T	c.(1825-1827)tCa>tTa	p.S609L		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	609						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.S609L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TAGATACTCTGACTTGTCCCC	0.463													18	82					0	0	0	0	A	30032400	G	A	30032400	3	1	83	1	0	0	0	0	1	0	0	0	8058	1294	45	2	139	2	KCNA4	11	30032400	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	29537674	30032400	104974116	94	16142											
KBTBD4	55709	broad.mit.edu	37	chr11	47594881	47594881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtccagatcattctcCtccccccctagtaagtagat	12	10	6	13	0	2	3	1	0	1	3	5	3	4	3	5	0	0	2	5	0	5	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:47594881C>T	ENST00000533290.1	-	3	1947	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	KBTBD4_ENST00000430070.2_Silent_p.E402E|KBTBD4_ENST00000526005.1_Silent_p.E386E|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000395288.2_Silent_p.E386E			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	386								p.E386E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GATCATTCTCCTCCCCCCCTA	0.512													27	94					0	0	0	0	T	47594881	C	T	47594881	2	4	83	1	0	0	0	0	0	0	0	1	8048	680	24	4		4	KBTBD4	11	47594881	Silent	SNP	C	TCGA-CN-5364-01A-01D-1434-08	17562481	47594881	87411635	95	16143											
OR5L1	219437	broad.mit.edu	37	chr11	55579185	55579185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaataattgtgccaaaaatGttggctaatatctttaacaa	16	14	5	6	0	2	0	1	0	1	0	2	0	2	0	1	1	2	2	1	1	8	7			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:55579185G>T	ENST00000333973.2	+	1	332	c.243G>T	c.(241-243)atG>atT	p.M81I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M81I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGCCAAAAATGTTGGCTAATA	0.458													64	246					1.69475e-38	2.08409e-38	1	0	T	55579185	G	T	55579185	3	4	83	1	0	0	0	0	1	0	0	0	11241	1377	48	4	245	4	OR5L1	11	55579185	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	7984304	55579185	79427331	96	16144											
OR8J1	219477	broad.mit.edu	37	chr11	56127847	56127847	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggctgaccatggcagggaAcctgggcatcatcaccctca	9	7	12	13	0	3	1	3	1	0	0	3	2	3	2	3	4	1	3	3	4	1	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:56127847A>T	ENST00000303039.3	+	1	157	c.125A>T	c.(124-126)aAc>aTc	p.N42I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N42I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ATGGCAGGGAACCTGGGCATC	0.493													34	132					0	0	0	0	T	56127847	A	T	56127847	3	4	83	1	0	0	0	0	1	0	0	0	11312	43	2	5	127	5	OR8J1	11	56127847	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08	548662	56127847	78878669	97	16145											
RARRES3	5920	broad.mit.edu	37	chr11	63312266	63312266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgatcatcagttctgcgaagGagatggttggtcagaagatg	11	11	14	5	1	4	4	3	1	1	3	4	6	4	4	0	3	1	2	0	3	2	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:63312266G>A	ENST00000439013.2	+	3	345	c.292G>A	c.(292-294)Gag>Aag	p.E98K	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000255688.3_Missense_Mutation_p.E98K|RARRES3_ENST00000354445.2_Missense_Mutation_p.E98K			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	98					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	p.E98K(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TTCTGCGAAGGAGATGGTTGG	0.517													51	144					0	0	0	0	A	63312266	G	A	63312266	3	1	83	1	0	0	0	0	1	0	0	0	13139	1175	41	2	302	2	RARRES3	11	63312266	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	7184419	63312266	71694250	98	16146											
FERMT3	83706	broad.mit.edu	37	chr11	63990913	63990913	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcgggcccgtggggaggaGctggatgaagacctcttcct	7	7	17	10	2	1	2	0	1	1	1	2	6	2	5	3	5	2	1	3	5	1	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:63990913G>A	ENST00000279227.5	+	15	2048	c.1953G>A	c.(1951-1953)gaG>gaA	p.E651E	FERMT3_ENST00000345728.5_Silent_p.E647E	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	651					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GTGGGGAGGAGCTGGATGAAG	0.622													16	43					0	0	0	0	A	63990913	G	A	63990913	2	1	83	1	0	0	0	0	0	0	0	1	5864	962	34	4		4	FERMT3	11	63990913	Silent	SNP	G	TCGA-CN-5364-01A-01D-1434-08	678647	63990913	71015603	99	16147											
SLC22A12	116085	broad.mit.edu	37	chr11	64366325	64366325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctgagcatgggccagcctCctgccagcctgggcaccctg	6	6	13	16	0	0	1	0	1	0	0	1	1	1	1	6	2	5	3	6	2	0	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:64366325C>T	ENST00000377574.1	+	6	1747	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	SLC22A12_ENST00000336464.7_Missense_Mutation_p.P300S|SLC22A12_ENST00000473690.1_Missense_Mutation_p.P113S|SLC22A12_ENST00000377572.1_Missense_Mutation_p.P226S|SLC22A12_ENST00000377567.2_Missense_Mutation_p.P226S	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	334					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GGGCCAGCCTCCTGCCAGCCT	0.672													4	71					0	0	0	0	T	64366325	C	T	64366325	3	4	83	1	0	0	0	0	1	0	0	0	14531	855	30	2	1022	2	SLC22A12	11	64366325	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	375412	64366325	70640191	100	16148											
NAALADL1	10004	broad.mit.edu	37	chr11	64813578	64813578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacttctccactgcagtcaCcagaggccctgtgaggaaca	12	7	9	13	0	2	2	1	1	1	1	3	3	2	3	3	2	3	1	3	2	2	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:64813578C>A	ENST00000358658.3	-	16	1891	c.1864G>T	c.(1864-1866)Gtg>Ttg	p.V622L	NAALADL1_ENST00000355369.2_3'UTR|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000340252.4_Missense_Mutation_p.V673L|NAALADL1_ENST00000356632.3_Missense_Mutation_p.V587L|NAALADL1_ENST00000355721.3_Missense_Mutation_p.V581L|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000528884.1_5'UTR	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	622					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.V622L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ACTGCAGTCACCAGAGGCCCT	0.607													20	76					7.45023e-12	8.52793e-12	1	0	A	64813578	C	A	64813578	3	1	83	1	0	0	0	0	1	0	0	0	10199	507	18	4	370	4	NAALADL1	11	64813578	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	447253	64813578	70192938	101	16149											
MUS81	80198	broad.mit.edu	37	chr11	65631171	65631171	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	attttgtgtgggtggcccagGagaccaatcctagagaccca	10	9	12	10	0	0	2	0	0	0	2	1	4	1	2	4	3	0	0	4	3	2	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:65631171G>C	ENST00000308110.4	+	9	1289	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	MUS81_ENST00000533035.1_Missense_Mutation_p.E239Q	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	314	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGTGGCCCAGGAGACCAATCC	0.657								Homologous recombination					10	109					0	0	0	0	C	65631171	G	C	65631171	3	2	83	1	0	0	0	0	1	0	0	0	10058	1175	41	2	974	2	MUS81	11	65631171	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	817593	65631171	69375345	102	16150											
NPAS4	266743	broad.mit.edu	37	chr11	66192180	66192180	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtccccctggtgcccGaaggcctgctcacacctgag	6	8	12	15	1	1	1	1	1	0	0	2	3	2	2	5	3	2	1	5	3	1	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:66192180G>T	ENST00000311034.2	+	7	1995	c.1819G>T	c.(1819-1821)Gaa>Taa	p.E607*		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	607					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTGGTGCCCGAAGGCCTGCT	0.592													20	349					2.37509e-13	2.75329e-13	1	0	T	66192180	G	T	66192180	4	4	83	1	0	0	0	0	0	1	0	0	10635	1059	37	3	1845	3	NPAS4	11	66192180	Nonsense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	561009	66192180	68814336	103	16151											
ATM	472	broad.mit.edu	37	chr11	108224518	108224518	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcttttgaacagggcaaaatCcttcctactcctgagacagt	11	11	8	11	0	0	2	0	2	0	1	3	3	3	2	3	1	2	2	3	1	4	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:108224518C>G	ENST00000278616.4	+	60	9082	c.8697C>G	c.(8695-8697)atC>atG	p.I2899M	ATM_ENST00000452508.2_Missense_Mutation_p.I2899M|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2899	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGGGCAAAATCCTTCCTACTC	0.398			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			85	115					0	0	0	0	G	108224518	C	G	108224518	3	3	83	1	0	0	0	0	1	0	0	0	1113	845	30	2	8931	2	ATM	11	108224518	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	42032338	108224518	26781998	104	16152											
CPNE8	144402	broad.mit.edu	37	chr12	39223185	39223185	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaaaaaatacttacactaTtggtttttccaggcgacttc	13	15	5	8	1	0	0	0	0	0	0	2	1	1	0	1	2	2	1	1	2	6	8			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:39223185T>A	ENST00000331366.5	-	6	499	c.403A>T	c.(403-405)Ata>Tta	p.I135L	CPNE8_ENST00000360449.3_Missense_Mutation_p.I123L	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	135								p.I135L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ACTTACACTATTGGTTTTTCC	0.363													46	213					0	0	0	0	A	39223185	T	A	39223185	3	1	83	1	0	0	0	0	1	0	0	0	3848	1493	52	5	1351	5	CPNE8	12	39223185	Missense_Mutation	SNP	T	TCGA-CN-5364-01A-01D-1434-08		39223185	94628710	105	16153											
XPOT	11260	broad.mit.edu	37	chr12	64818445	64818445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactgttggacaggcttgctCaagtttcaccagagttacta	10	13	9	9	0	2	1	2	0	0	1	2	2	2	2	1	2	3	5	1	2	4	6			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:64818445C>G	ENST00000332707.5	+	12	1778	c.1249C>G	c.(1249-1251)Caa>Gaa	p.Q417E		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	417					intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CAGGCTTGCTCAAGTTTCACC	0.373													20	116					0	0	0	0	G	64818445	C	G	64818445	3	3	83	1	0	0	0	0	1	0	0	0	17546	827	29	2	1291	2	XPOT	12	64818445	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	25595260	64818445	69033450	106	16154											
CHPT1	56994	broad.mit.edu	37	chr12	102091698	102091698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagggcgctgagcgagcCgctgagcgcggcgcagctgc	5	4	19	13	6	0	3	0	3	0	0	0	4	0	3	1	2	5	5	1	2	0	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:102091698C>T	ENST00000549872.1	+	1	249	c.59C>T	c.(58-60)cCg>cTg	p.P20L	CHPT1_ENST00000550385.1_Intron|CHPT1_ENST00000229266.3_Missense_Mutation_p.P20L			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	20					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CTGAGCGAGCCGCTGAGCGCG	0.796													3	6					0	0	0	0	T	102091698	C	T	102091698	3	4	83	1	0	0	0	0	1	0	0	0	3399	652	23	1	61	1	CHPT1	12	102091698	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	37273253	102091698	31760197	107	16155											
GNPTAB	79158	broad.mit.edu	37	chr12	102158435	102158435	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcatttgtttcatctgttaTtatagcttgattttttattt	7	25	5	4	0	3	1	2	1	1	0	3	1	3	1	0	0	1	3	0	0	4	10			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:102158435T>C	ENST00000299314.7	-	13	2522	c.2260A>G	c.(2260-2262)Ata>Gta	p.I754V		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	754					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCATCTGTTATTATAGCTTGA	0.383													19	69					0	0	0	0	C	102158435	T	C	102158435	3	2	83	1	0	0	0	0	1	0	0	0	6596	1493	52	5	1546	5	GNPTAB	12	102158435	Missense_Mutation	SNP	T	TCGA-CN-5364-01A-01D-1434-08	66737	102158435	31693460	108	16156											
ACAD10	80724	broad.mit.edu	37	chr12	112184876	112184876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaactgctctgcgcctgaCacgggcaacatggagctgct	8	9	12	12	2	1	1	0	1	1	0	1	2	1	2	1	2	6	5	1	2	2	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:112184876C>A	ENST00000455480.2	+	16	2550	c.2373C>A	c.(2371-2373)gaC>gaA	p.D791E	ACAD10_ENST00000392636.2_Missense_Mutation_p.D362E|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.D760E	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	760							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGCGCCTGACACGGGCAACA	0.542													3	61					0.115264	0.11852	1	0	A	112184876	C	A	112184876	3	1	83	1	0	0	0	0	1	0	0	0	108	477	17	4	2431	4	ACAD10	12	112184876	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	10026441	112184876	21667019	109	16157											
ZCCHC8	55596	broad.mit.edu	37	chr12	122966496	122966496	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaatgccattagtacctaaTaactcctggcttgaatcttc	13	13	5	10	0	1	1	0	1	1	0	3	1	2	1	3	1	3	2	3	1	7	6			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:122966496T>C	ENST00000543897.1	-	7	2512	c.157A>G	c.(157-159)Att>Gtt	p.I53V	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.I53V|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.I291V			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	291						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	p.I291V(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TAGTACCTAATAACTCCTGGC	0.383													8	26					0	0	0	0	C	122966496	T	C	122966496	3	2	83	1	0	0	0	0	1	0	0	0	17689	1406	49	5	1276	5	ZCCHC8	12	122966496	Missense_Mutation	SNP	T	TCGA-CN-5364-01A-01D-1434-08	10781620	122966496	10885399	110	16158											
CENPJ	55835	broad.mit.edu	37	chr13	25458151	25458151	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgctttcttcttgtccAtcaggaaataagtttttaac	13	16	5	7	0	3	0	1	0	2	0	4	1	4	1	1	1	2	2	1	1	5	7			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr13:25458151A>C	ENST00000381884.4	-	16	3959	c.3774T>G	c.(3772-3774)gaT>gaG	p.D1258E	CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1258					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTTCTTGTCCATCAGGAAATA	0.358													27	94					0	0	0	0	C	25458151	A	C	25458151	3	2	83	1	0	0	0	0	1	0	0	0	3263	214	8	5	250	5	CENPJ	13	25458151	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08		25458151	89711727	111	16159											
TDRD3	81550	broad.mit.edu	37	chr13	61034585	61034585	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggataatgaagaatcTcaggctgcaccaaggatgct	15	7	10	9	0	1	2	1	1	1	1	2	4	1	4	2	3	2	3	2	3	5	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr13:61034585T>G	ENST00000535286.1	+	4	336	c.264T>G	c.(262-264)tcT>tcG	p.S88S	TDRD3_ENST00000196169.3_5'UTR|TDRD3_ENST00000377881.2_5'UTR|TDRD3_ENST00000377894.2_5'UTR|TDRD3_ENST00000463109.1_3'UTR	NM_001146070.1	NP_001139542.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	0					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ATGAAGAATCTCAGGCTGCAC	0.378													9	74					0	0	0	0	G	61034585	T	G	61034585	2	3	83	1	0	0	0	0	0	0	0	1	15826	1538	54	5		5	TDRD3	13	61034585	Silent	SNP	T	TCGA-CN-5364-01A-01D-1434-08	35576434	61034585	54135293	112	16160											
PIBF1	10464	broad.mit.edu	37	chr13	73366606	73366606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagaattggaggagaaaCttaatgatgcacttcaccag	15	10	10	6	0	1	4	1	2	0	2	1	6	1	5	1	2	2	1	1	2	4	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr13:73366606C>G	ENST00000326291.6	+	3	612	c.274C>G	c.(274-276)Ctt>Gtt	p.L92V		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	92						centrosome		p.L92V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GGAGGAGAAACTTAATGATGC	0.284													9	67					0	0	0	0	G	73366606	C	G	73366606	3	3	83	1	0	0	0	0	1	0	0	0	11951	565	20	4	280	4	PIBF1	13	73366606	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	12332021	73366606	41803272	113	16161											
DOCK9	23348	broad.mit.edu	37	chr13	99476724	99476724	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgtcgatgtttggggtaatGaccctgaaggcggtgcatcc	7	11	14	9	3	0	2	0	2	0	0	3	3	1	2	2	4	1	3	2	4	2	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr13:99476724G>C	ENST00000376460.1	-	46	5138	c.5058C>G	c.(5056-5058)gtC>gtG	p.V1686V	DOCK9_ENST00000339416.2_Silent_p.V1687V|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1687	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.V1687V(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGGGGTAATGACCCTGAAGG	0.537													33	138					0	0	0	0	C	99476724	G	C	99476724	2	2	83	1	0	0	0	0	0	0	0	1	4730	1277	45	2		2	DOCK9	13	99476724	Silent	SNP	G	TCGA-CN-5364-01A-01D-1434-08	26110118	99476724	15693154	114	16162											
MDGA2	161357	broad.mit.edu	37	chr14	47504386	47504386	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgcaacttctttatcCgctctagaccaaaggatgat	11	12	8	10	1	2	2	0	1	2	1	3	3	3	3	2	2	2	3	2	2	4	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr14:47504386C>A	ENST00000426342.1	-	8	1499	c.753G>T	c.(751-753)gcG>gcT	p.A251A	MDGA2_ENST00000399232.2_Silent_p.A549A|MDGA2_ENST00000439988.2_Silent_p.A480A|MDGA2_ENST00000357362.3_Silent_p.A251A	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	480	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.A251A(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTTCTTTATCCGCTCTAGACC	0.413													55	230					6.20943e-19	7.38638e-19	1	0	A	47504386	C	A	47504386	2	1	83	1	0	0	0	0	0	0	0	1	9476	639	23	3		3	MDGA2	14	47504386	Silent	SNP	C	TCGA-CN-5364-01A-01D-1434-08		47504386	59845154	115	16163											
DLST	1743	broad.mit.edu	37	chr14	75367830	75367830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taccttcaccattagcaatgGaggcgtttttggctcgctct	7	14	9	11	2	2	0	1	0	1	0	3	1	2	1	2	3	2	4	2	3	3	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr14:75367830G>A	ENST00000334220.4	+	14	1182	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	DLST_ENST00000334212.6_Missense_Mutation_p.G288E	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	374					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	p.G374E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		ATTAGCAATGGAGGCGTTTTT	0.473													21	94					0	0	0	0	A	75367830	G	A	75367830	3	1	83	1	0	0	0	0	1	0	0	0	4606	1174	41	2	1175	2	DLST	14	75367830	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	27863444	75367830	31981710	116	16164											
DICER1	23405	broad.mit.edu	37	chr14	95560403	95560403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtctgtcaggacccccGgggagtgctgccgcgggtct	4	7	17	13	3	3	0	1	0	2	0	3	2	3	2	3	5	2	2	3	5	0	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr14:95560403G>T	ENST00000526495.1	-	26	5477	c.5186C>A	c.(5185-5187)cCg>cAg	p.P1729Q	DICER1_ENST00000527414.1_Missense_Mutation_p.P1729Q|DICER1_ENST00000393063.1_Missense_Mutation_p.P1729Q|DICER1_ENST00000541352.1_Missense_Mutation_p.P1729Q|DICER1_ENST00000343455.3_Missense_Mutation_p.P1729Q|DICER1_ENST00000556045.1_Missense_Mutation_p.P627Q			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1729	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.P1729L(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAGGACCCCCGGGGAGTGCTG	0.522			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				6	99					2.0095e-06	2.18999e-06	1	0	T	95560403	G	T	95560403	3	4	83	1	0	0	0	0	1	0	0	0	4558	1116	39	3	598	3	DICER1	14	95560403	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	20192573	95560403	11789137	117	16165											
DEGS2	123099	broad.mit.edu	37	chr14	100615443	100615443	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacatgtagtgctcggccacGaagtggcccgagatggggtg	9	7	16	9	3	0	1	0	0	0	1	1	3	0	1	2	4	2	2	2	4	3	1	rs145891510		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr14:100615443G>A	ENST00000305631.5	-	2	1262	c.687C>T	c.(685-687)ttC>ttT	p.F229F	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	229					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	p.F229F(2)		breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCTCGGCCACGAAGTGGCCCG	0.622													10	129					0	0	0	0	A	100615443	G	A	100615443	2	1	83	1	0	0	0	0	0	0	0	1	4460	1049	37	1		1	DEGS2	14	100615443	Silent	SNP	G	TCGA-CN-5364-01A-01D-1434-08	5055040	100615443	6734097	118	16166											
PARP16	54956	broad.mit.edu	37	chr15	65555578	65555578	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggccgaggaggctgtgctgCcacccatggccatgggggct	5	6	18	12	1	0	0	0	0	0	0	0	2	0	1	4	6	2	3	4	6	0	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr15:65555578C>T	ENST00000261888.6	-	4	1045	c.600G>A	c.(598-600)tgG>tgA	p.W200*	PARP16_ENST00000444347.2_Nonsense_Mutation_p.W85*	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	200	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GGCTGTGCTGCCACCCATGGC	0.582													11	43					0	0	0	0	T	65555578	C	T	65555578	4	4	83	1	0	0	0	0	0	1	0	0	11531	740	26	4	383	4	PARP16	15	65555578	Nonsense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08		65555578	36975814	119	16167											
MPI	4351	broad.mit.edu	37	chr15	75189376	75189376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtggagtgcatggcgtgttCagacaacacagttcgtgctg	8	10	14	9	3	1	1	1	0	0	1	2	2	1	2	0	2	3	4	0	2	1	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr15:75189376C>T	ENST00000352410.4	+	7	936	c.869C>T	c.(868-870)tCa>tTa	p.S290L	MPI_ENST00000563786.1_Missense_Mutation_p.S270L|MPI_ENST00000535694.1_Missense_Mutation_p.S240L|MPI_ENST00000323744.6_Missense_Mutation_p.S229L|MPI_ENST00000566377.1_Intron			P34949	MPI_HUMAN	mannose phosphate isomerase	290					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	p.S290L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						ATGGCGTGTTCAGACAACACA	0.537													48	148					0	0	0	0	T	75189376	C	T	75189376	3	4	83	1	0	0	0	0	1	0	0	0	9799	838	29	2	895	2	MPI	15	75189376	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	9633798	75189376	27342016	120	16168											
FAM173A	65990	broad.mit.edu	37	chr16	772479	772479	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctggggaggccgcctcCtcgcggatacccatccaggc	6	5	14	16	3	0	0	0	0	0	0	3	2	2	2	5	6	1	1	5	6	1	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:772479C>T	ENST00000569529.1	+	5	930	c.630C>T	c.(628-630)tcC>tcT	p.S210S	FAM173A_ENST00000219535.3_Silent_p.S193S|FAM173A_ENST00000564000.1_3'UTR	NM_023933.1	NP_076422.1	Q9BQD7	F173A_HUMAN	family with sequence similarity 173, member A	210						integral to membrane				pancreas(1)	1						AGGCCGCCTCCTCGCGGATAC	0.637													13	30					0	0	0	0	T	772479	C	T	772479	2	4	83	1	0	0	0	0	0	0	0	1	5534	668	24	4		4	FAM173A	16	772479	Silent	SNP	C	TCGA-CN-5364-01A-01D-1434-08		772479	89582274	121	16169											
CHD9	80205	broad.mit.edu	37	chr16	53358697	53358697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggaggaactgaaccaagtCctctcaatgaaaacagcaca	18	5	8	10	0	1	2	1	2	1	0	3	4	2	4	2	2	4	1	2	2	7	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:53358697C>T	ENST00000566029.1	+	39	8745	c.8536C>T	c.(8536-8538)Cct>Tct	p.P2846S	CHD9_ENST00000398510.3_Missense_Mutation_p.P2862S|CHD9_ENST00000564845.1_Missense_Mutation_p.P2846S|CHD9_ENST00000447540.1_Missense_Mutation_p.P2847S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2862					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGAACCAAGTCCTCTCAATGA	0.398													7	20					0	0	0	0	T	53358697	C	T	53358697	3	4	83	1	0	0	0	0	1	0	0	0	3361	855	30	2	8686	2	CHD9	16	53358697	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	52586218	53358697	36996056	122	16170											
FHOD1	29109	broad.mit.edu	37	chr16	67271255	67271256	+	Frame_Shift_Ins	INS	-	-	GGAGTCC																															gcatccgtcacatcgtagaaINSggagtcctggtccgggagcg																										TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:67271255_67271256insGGAGTCC	ENST00000258201.4	-	9	1126_1127	c.879_880insGGACTCC	c.(877-882)tctctafs	p.L294fs	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	294	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ACATCGTAGAAGGAGTCCTGGT	0.663													10	91	---	---	---	---					GGAGTCC	67271256	-	GGAGTCC	67271255	7	5	83	1	0	1	1	0	0	0	0	0	5927	72	3	0	2670	0	FHOD1	16	67271255	Frame_Shift_Ins	INS	-	TCGA-CN-5364-01A-01D-1434-08	13912558	67271255	23083498	123	16171											
GFOD2	81577	broad.mit.edu	37	chr16	67709084	67709084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgttccgctgaagtgcctCacacaggttctggttggtgt	5	14	13	9	1	2	1	1	1	1	0	3	1	3	1	2	3	1	5	2	3	1	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:67709084C>G	ENST00000268797.7	-	3	1477	c.1132G>C	c.(1132-1134)Gag>Cag	p.E378Q	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	378						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGAAGTGCCTCACACAGGTTC	0.627													35	182					0	0	0	0	G	67709084	C	G	67709084	3	3	83	1	0	0	0	0	1	0	0	0	6395	835	29	2	29	2	GFOD2	16	67709084	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	437829	67709084	22645669	124	16172											
SLC7A6OS	84138	broad.mit.edu	37	chr16	68344358	68344358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtactcggactcctggccGctcgaggtggtccccaagga	6	8	14	13	3	0	0	0	0	0	0	4	3	2	2	4	5	1	2	4	5	2	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:68344358G>T	ENST00000263997.6	-	2	369	c.351C>A	c.(349-351)agC>agA	p.S117R		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	117					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		ACTCCTGGCCGCTCGAGGTGG	0.672													5	12					0.00116845	0.00122217	1	0	T	68344358	G	T	68344358	3	4	83	1	0	0	0	0	1	0	0	0	14790	1078	38	3	594	3	SLC7A6OS	16	68344358	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	635274	68344358	22010395	125	16173											
ZFPM1	161882	broad.mit.edu	37	chr16	88601319	88601319	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaacatcaagttcagcAgcctgtccaccttcatcgcc	9	11	6	15	1	3	0	3	0	0	0	5	0	4	0	4	0	4	3	4	0	2	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:88601319A>T	ENST00000319555.3	+	10	3275	c.2953A>T	c.(2953-2955)Agc>Tgc	p.S985C		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	985					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAAGTTCAGCAGCCTGTCCAC	0.622													24	68					0	0	0	0	T	88601319	A	T	88601319	3	4	83	1	0	0	0	0	1	0	0	0	17752	188	7	5	2991	5	ZFPM1	16	88601319	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08	20256961	88601319	1753434	126	16174											
DPH1	1801	broad.mit.edu	37	chr17	1939319	1939319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctacggggcttgctgtGtggatgacttcacagcgagg	7	10	15	9	2	1	2	1	2	0	0	1	4	1	3	1	4	3	2	1	4	1	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:1939319G>T	ENST00000263083.6	+	4	394	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L	DPH1_ENST00000570477.1_Missense_Mutation_p.V37L|DPH1_ENST00000576891.2_3'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	117					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		p.V117L(1)		endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTTGCTGTGTGGATGACTT	0.647													17	47					7.21436e-19	8.52607e-19	1	0	T	1939319	G	T	1939319	3	4	83	1	0	0	0	0	1	0	0	0	4755	1377	48	4	363	4	DPH1	17	1939319	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08		1939319	79255891	127	16175											
TP53	7157	broad.mit.edu	37	chr17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctccctgggggcagctCgtggtgaggctcccctttct	3	11	14	13	1	1	1	0	1	1	0	4	1	3	1	3	4	2	4	3	4	0	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGGGCAGCTCGTGGTGAGGC	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	66					4.16121e-05	4.42889e-05	1	0	A	7577046	C	A	7577046	4	1	83	1	0	0	0	0	0	1	0	0	16476	893	31	3	394	3	TP53	17	7577046	Nonsense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	5637727	7577046	73618164	128	16176											
DBF4B	80174	broad.mit.edu	37	chr17	42828155	42828155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctggtcacttccttggCtctgctgcctggggagtggt	3	14	13	11	0	4	0	2	0	2	0	5	1	5	1	2	5	2	2	2	5	0	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:42828155C>G	ENST00000315005.3	+	14	1520	c.1382C>G	c.(1381-1383)gCt>gGt	p.A461G	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	461					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACTTCCTTGGCTCTGCTGCCT	0.632													26	93					0	0	0	0	G	42828155	C	G	42828155	3	3	83	1	0	0	0	0	1	0	0	0	4282	797	28	4	1481	4	DBF4B	17	42828155	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	35251109	42828155	38367055	129	16177											
ARSG	22901	broad.mit.edu	37	chr17	66391318	66391318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaggtgctctttggccggtCacagcctgggcacagggtaa	7	8	15	11	2	2	0	1	0	1	0	2	1	2	0	2	5	2	3	2	5	1	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:66391318C>T	ENST00000448504.2	+	10	1992	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.S235L	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	399					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTGGCCGGTCACAGCCTGGG	0.582													5	89					0	0	0	0	T	66391318	C	T	66391318	3	4	83	1	0	0	0	0	1	0	0	0	996	838	29	2	1230	2	ARSG	17	66391318	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	23563163	66391318	14803892	130	16178											
SLC9A3R1	9368	broad.mit.edu	37	chr17	72764743	72764743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaacgcagcagcaaacGggccccgcagatggactgga	13	2	13	13	3	0	2	0	0	0	2	0	4	0	4	3	3	4	4	3	3	2	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:72764743G>A	ENST00000262613.5	+	6	1220	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.R186Q	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	342					apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association			large_intestine(4)	4						AGCAGCAAACGGGCCCCGCAG	0.612													38	119					0	0	0	0	A	72764743	G	A	72764743	3	1	83	1	0	0	0	0	1	0	0	0	14802	1116	39	1	1047	1	SLC9A3R1	17	72764743	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	6373425	72764743	8430467	131	16179											
OSBPL1A	114876	broad.mit.edu	37	chr18	21745031	21745031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgactcaggcacgcacctCgtcttccagtcctcttctga	6	11	7	17	2	4	2	1	2	3	0	7	2	6	2	4	1	0	2	4	1	0	2	rs143353189		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr18:21745031C>T	ENST00000319481.3	-	27	2954	c.2748G>A	c.(2746-2748)acG>acA	p.T916T	OSBPL1A_ENST00000399443.3_Silent_p.T403T|OSBPL1A_ENST00000357041.4_Silent_p.T534T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	916					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	p.T916T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GCACGCACCTCGTCTTCCAGT	0.532													69	262					0	0	0	0	T	21745031	C	T	21745031	2	4	83	1	0	0	0	0	0	0	0	1	11348	871	31	1		1	OSBPL1A	18	21745031	Silent	SNP	C	TCGA-CN-5364-01A-01D-1434-08		21745031	56332217	132	16180											
SMAD4	4089	broad.mit.edu	37	chr18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacccttctggaggagatcGcttttgtttgggtcaactct	6	14	12	9	1	3	1	1	0	2	1	4	4	3	3	1	4	1	2	1	4	1	4			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr18:48591919G>A	ENST00000342988.3	+	9	1620	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2.		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R361H(12)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTG	0.413													16	63					0	0	0	0	A	48591919	G	A	48591919	3	1	83	1	0	0	0	0	1	0	0	0	14848	1087	38	1	1112	1	SMAD4	18	48591919	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	26846888	48591919	29485329	133	16181											
ACSBG2	81616	broad.mit.edu	37	chr19	6185605	6185605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgaaggctggctacactCtggggatctgggccagctgg	7	9	16	9	0	2	2	0	2	2	0	2	3	2	3	1	6	2	3	1	6	2	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:6185605C>T	ENST00000588304.1	+	11	1777	c.1331C>T	c.(1330-1332)tCt>tTt	p.S444F	ACSBG2_ENST00000252669.5_Missense_Mutation_p.S494F|ACSBG2_ENST00000586696.1_Missense_Mutation_p.S494F|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Missense_Mutation_p.S307F|ACSBG2_ENST00000591403.1_Missense_Mutation_p.S494F			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	494					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGCTACACTCTGGGGATCTG	0.552													9	151					0	0	0	0	T	6185605	C	T	6185605	3	4	83	1	0	0	0	0	1	0	0	0	174	913	32	2	1519	2	ACSBG2	19	6185605	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08		6185605	52943378	134	16182											
ARHGEF18	23370	broad.mit.edu	37	chr19	7535174	7535176	+	In_Frame_Del	DEL	TCT	TCT	-																															cgccagcaaagaagacgtcaTcttcttctaaaagggccgtg																										TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:7535174_7535176delTCT	ENST00000359920.6	+	19	3765_3767	c.3512_3514delTCT	c.(3511-3516)atc>a	p.IF1171del	ARHGEF18_ENST00000319670.9_In_Frame_Del_p.IF1013del	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1171					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GAAGACGTCATCTTCTTCTAAAA	0.675													18	60	---	---	---	---					-	7535176	TCT	-	7535174	7	5	83	1	0	1	0	1	0	0	0	0	903	1435	50	0	3586	0	ARHGEF18	19	7535174	In_Frame_Del	DEL	TCT	TCGA-CN-5364-01A-01D-1434-08	1349569	7535174	51593809	135	16183											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10221394	10221394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagagcctggagggcatGaagaaggcacgggtcggggg	12	3	20	6	2	0	4	0	1	0	3	1	5	0	5	1	6	1	2	1	6	4	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:10221394G>A	ENST00000428358.1	+	11	1225	c.1053G>A	c.(1051-1053)atG>atA	p.M351I	PPAN_ENST00000393793.1_Missense_Mutation_p.M298I|PPAN_ENST00000253107.7_Missense_Mutation_p.M351I|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.M351I|PPAN_ENST00000556468.1_Missense_Mutation_p.M351I	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		351					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGGAGGGCATGAAGAAGGCAC	0.627													16	63					0	0	0	0	A	10221394	G	A	10221394	3	1	83	1	0	0	0	0	1	0	0	0	12360	1290	45	2	1095	2	PPAN-P2RY11	19	10221394	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	2686220	10221394	48907589	136	16184											
S1PR2	9294	broad.mit.edu	37	chr19	10335464	10335464	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcaacagaggatgacgaTgaaggccgaggccacctggc	11	3	16	11	3	0	3	0	2	0	1	0	6	0	4	3	5	1	1	3	5	2	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:10335464T>A	ENST00000590320.1	-	2	228	c.118A>T	c.(118-120)Atc>Ttc	p.I40F		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	40					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.I40F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGGATGACGATGAAGGCCGAG	0.552													43	235					0	0	0	0	A	10335464	T	A	10335464	3	1	83	1	0	0	0	0	1	0	0	0	13879	1464	51	5	947	5	S1PR2	19	10335464	Missense_Mutation	SNP	T	TCGA-CN-5364-01A-01D-1434-08	114070	10335464	48793519	137	16185											
PKN1	5585	broad.mit.edu	37	chr19	14569141	14569141	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttggacaatgagaggcAtgaggtgcagctggacatgg	10	10	15	6	0	1	2	0	2	1	1	1	5	1	4	0	5	2	3	0	5	1	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:14569141A>T	ENST00000242783.6	+	9	1538	c.1373A>T	c.(1372-1374)cAt>cTt	p.H458L	PKN1_ENST00000342216.4_Missense_Mutation_p.H464L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	458	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	p.H458L(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						AATGAGAGGCATGAGGTGCAG	0.577													10	77					0	0	0	0	T	14569141	A	T	14569141	3	4	83	1	0	0	0	0	1	0	0	0	12051	217	8	5	1450	5	PKN1	19	14569141	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08	4233677	14569141	44559842	138	16186											
ZNF253	56242	broad.mit.edu	37	chr19	20003522	20003522	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaatgtgacagatctttTaaatgttcctccacttttaa	13	15	6	7	0	1	3	0	1	1	2	3	4	3	3	2	0	0	1	2	0	5	5			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:20003522T>C	ENST00000589717.1	+	4	1558	c.1466T>C	c.(1465-1467)tTa>tCa	p.L489S	CTC-559E9.8_ENST00000585571.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.L413S	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	489					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L489S(1)|p.L461S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAGATCTTTTAAATGTTCCT	0.363													18	68					0	0	0	0	C	20003522	T	C	20003522	3	2	83	1	0	0	0	0	1	0	0	0	17892	1764	61	5	1480	5	ZNF253	19	20003522	Missense_Mutation	SNP	T	TCGA-CN-5364-01A-01D-1434-08	5434381	20003522	39125461	139	16187											
ZNF536	9745	broad.mit.edu	37	chr19	30934639	30934639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccccggcccaaccccgAggagaagccccccgcatccc	8	2	8	23	3	0	1	0	0	0	1	2	3	2	1	10	2	2	1	10	2	2	0			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:30934639A>G	ENST00000355537.3	+	2	317	c.170A>G	c.(169-171)gAg>gGg	p.E57G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCAACCCCGAGGAGAAGCCC	0.677													21	88					0	0	0	0	G	30934639	A	G	30934639	3	3	83	1	0	0	0	0	1	0	0	0	18069	304	11	5	172	5	ZNF536	19	30934639	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08	10931117	30934639	28194344	140	16188											
SHANK1	50944	broad.mit.edu	37	chr19	51165265	51165265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcccggtcgatgttcatgCggtggcccaccctggtcaca	6	8	13	14	3	2	0	2	0	0	0	3	2	2	0	3	4	2	1	3	4	0	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:51165265C>T	ENST00000293441.1	-	23	6461	c.6443G>A	c.(6442-6444)cGc>cAc	p.R2148H	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.R2156H|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1535H|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2139H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2148	SAM.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GATGTTCATGCGGTGGCCCAC	0.617													16	108					0	0	0	0	T	51165265	C	T	51165265	3	4	83	1	0	0	0	0	1	0	0	0	14352	768	27	1	46	1	SHANK1	19	51165265	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	20230626	51165265	7963718	141	16189											
ZNF667	63934	broad.mit.edu	37	chr19	56952944	56952944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggcttttccacattcctCacactggtagggtttttctc	7	15	8	11	0	2	0	1	0	1	0	5	1	4	0	2	3	0	3	2	3	2	6			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:56952944C>T	ENST00000504904.3	-	7	2139	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	ZNF667_ENST00000342634.3_Missense_Mutation_p.E602K|ZNF667_ENST00000292069.6_Missense_Mutation_p.E474K|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E474K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CCACATTCCTCACACTGGTAG	0.398													20	102					0	0	0	0	T	56952944	C	T	56952944	3	4	83	1	0	0	0	0	1	0	0	0	18169	835	29	2	416	2	ZNF667	19	56952944	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	5787679	56952944	2176039	142	16190											
PEG3	5178	broad.mit.edu	37	chr19	57325748	57325748	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttcttcttcttccagAtgaagctccttatgtttagt	6	20	5	10	0	5	2	0	1	5	1	7	2	7	2	2	0	1	2	2	0	3	8			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:57325748A>T	ENST00000326441.9	-	10	4425	c.4062T>A	c.(4060-4062)caT>caA	p.H1354Q	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H1230Q|PEG3_ENST00000593695.1_Missense_Mutation_p.H1228Q|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H1354Q	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1354	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H1354Q(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTCTTCCAGATGAAGCTCCT	0.453													23	60					0	0	0	0	T	57325748	A	T	57325748	3	4	83	1	0	0	0	0	1	0	0	0	11791	330	12	5	708	5	PEG3	19	57325748	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08	372804	57325748	1803235	143	16191											
ZNF264	9422	broad.mit.edu	37	chr19	57723539	57723539	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaacacaggtcatatctCatgtggcaccagcagactca	13	9	7	12	0	4	1	4	0	1	1	5	1	4	1	1	2	2	2	1	2	2	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:57723539C>T	ENST00000263095.6	+	4	1488	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	ZNF264_ENST00000536056.1_Silent_p.L358L	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L358L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GGTCATATCTCATGTGGCACC	0.517													25	127					0	0	0	0	T	57723539	C	T	57723539	2	4	83	1	0	0	0	0	0	0	0	1	17899	813	29	2		2	ZNF264	19	57723539	Silent	SNP	C	TCGA-CN-5364-01A-01D-1434-08	397791	57723539	1405444	144	16192											
C20orf194	25943	broad.mit.edu	37	chr20	3321254	3321254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttttctcgtgtggagtgaTtaccaaagagaacaaatggc	12	11	12	6	1	1	2	0	1	1	1	2	4	1	3	1	3	2	1	1	3	4	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr20:3321254T>C	ENST00000252032.9	-	10	945	c.878A>G	c.(877-879)aAt>aGt	p.N293S	C20orf194_ENST00000453730.2_Missense_Mutation_p.N32S	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	293										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGTGGAGTGATTACCAAAGAG	0.493													8	44					0	0	0	0	C	3321254	T	C	3321254	3	2	83	1	0	0	0	0	1	0	0	0	2119	1493	52	5	2767	5	C20orf194	20	3321254	Missense_Mutation	SNP	T	TCGA-CN-5364-01A-01D-1434-08		3321254	59704266	145	16193											
FAM83C	128876	broad.mit.edu	37	chr20	33876620	33876620	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctccccattgaggtccaTcttgtagcacatctccagga	8	11	9	13	0	2	1	0	1	2	0	5	2	4	2	4	2	2	3	4	2	1	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr20:33876620T>C	ENST00000374408.3	-	2	751	c.655A>G	c.(655-657)Atg>Gtg	p.M219V		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	219								p.M219V(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TTGAGGTCCATCTTGTAGCAC	0.642													8	61					0	0	0	0	C	33876620	T	C	33876620	3	2	83	1	0	0	0	0	1	0	0	0	5681	1435	50	5	1600	5	FAM83C	20	33876620	Missense_Mutation	SNP	T	TCGA-CN-5364-01A-01D-1434-08	30555366	33876620	29148900	146	16194											
CEP250	11190	broad.mit.edu	37	chr20	34054812	34054812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaagggctacctgaaaGgggagcacggtcgccttctc	8	9	12	12	2	3	1	1	1	2	0	5	2	3	2	2	4	2	2	2	4	3	3			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr20:34054812G>A	ENST00000397527.1	+	8	1234	c.514G>A	c.(514-516)Ggg>Agg	p.G172R	CEP250_ENST00000397524.1_Missense_Mutation_p.G172R|CEP250_ENST00000342580.4_Missense_Mutation_p.G172R	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	172					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTACCTGAAAGGGGAGCACGG	0.527													23	98					0	0	0	0	A	34054812	G	A	34054812	3	1	83	1	0	0	0	0	1	0	0	0	3281	1000	35	4	532	4	CEP250	20	34054812	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08	178192	34054812	28970708	147	16195											
CHAF1B	8208	broad.mit.edu	37	chr21	37783871	37783871	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttggttacgtgtctaatAtacattaccacaccctcagt	10	15	5	11	1	2	0	1	0	1	0	2	0	2	0	2	1	3	1	2	1	5	7			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr21:37783871A>T	ENST00000314103.4	+	11	1181	c.1030A>T	c.(1030-1032)Ata>Tta	p.I344L		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	344					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CGTGTCTAATATACATTACCA	0.537													61	229					0	0	0	0	T	37783871	A	T	37783871	3	4	83	1	0	0	0	0	1	0	0	0	3341	449	16	5	1068	5	CHAF1B	21	37783871	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08		37783871	10346024	148	16196											
HDX	139324	broad.mit.edu	37	chrX	83599378	83599378	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagaaccagactcaggctGctcagagaaatcagcagggc	15	5	11	10	0	3	3	3	0	0	3	3	4	3	3	1	2	3	3	1	2	4	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chrX:83599378G>C	ENST00000297977.5	-	6	1651	c.1540C>G	c.(1540-1542)Cag>Gag	p.Q514E	HDX_ENST00000373177.2_Missense_Mutation_p.Q514E|HDX_ENST00000506585.2_Missense_Mutation_p.Q456E	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	514						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q514E(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GACTCAGGCTGCTCAGAGAAA	0.448													24	25					0	0	0	0	C	83599378	G	C	83599378	3	2	83	1	0	0	0	0	1	0	0	0	7076	1328	46	4	552	4	HDX	23	83599378	Missense_Mutation	SNP	G	TCGA-CN-5364-01A-01D-1434-08		83599378	71671182	149	16197											
CPXCR1	53336	broad.mit.edu	37	chrX	88008565	88008565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagaaaccaacccaataaaCagggagccaggcacagcaac	18	2	9	12	0	0	1	0	0	0	1	0	2	0	2	3	2	6	3	3	2	7	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chrX:88008565C>A	ENST00000276127.4	+	3	409	c.150C>A	c.(148-150)aaC>aaA	p.N50K	CPXCR1_ENST00000373111.1_Missense_Mutation_p.N50K	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	50						intracellular	zinc ion binding	p.N50K(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ACCCAATAAACAGGGAGCCAG	0.443													7	7					0.00198382	0.00205145	1	0	A	88008565	C	A	88008565	3	1	83	1	0	0	0	0	1	0	0	0	3866	477	17	4	152	4	CPXCR1	23	88008565	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	4409187	88008565	67261995	150	16198											
ESX1	80712	broad.mit.edu	37	chrX	103498950	103498950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgggggctgtggtccctCagcggtttgtggcccctccg	1	11	15	14	2	2	0	1	0	1	0	4	0	4	0	4	5	1	2	4	5	0	1			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chrX:103498950C>T	ENST00000372588.4	-	2	474	c.391G>A	c.(391-393)Gag>Aag	p.E131K		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	131					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGTGGTCCCTCAGCGGTTTGT	0.647													4	27					0	0	0	0	T	103498950	C	T	103498950	3	4	83	1	0	0	0	0	1	0	0	0	5301	835	29	2	841	2	ESX1	23	103498950	Missense_Mutation	SNP	C	TCGA-CN-5364-01A-01D-1434-08	15490385	103498950	51771610	151	16199											
XPNPEP2	7512	broad.mit.edu	37	chrX	128881676	128881676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctggtatggggatcagAgaggccaccggttccaaatc	10	7	14	10	1	1	1	1	0	0	1	3	4	2	3	4	6	0	2	4	6	2	2			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chrX:128881676A>G	ENST00000371106.3	+	7	776	c.584A>G	c.(583-585)gAg>gGg	p.E195G		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	195					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	p.E195G(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGGGGATCAGAGAGGCCACCG	0.522													18	35					0	0	0	0	G	128881676	A	G	128881676	3	3	83	1	0	0	0	0	1	0	0	0	17539	304	11	5	610	5	XPNPEP2	23	128881676	Missense_Mutation	SNP	A	TCGA-CN-5364-01A-01D-1434-08	25382726	128881676	26388884	152	16200											
CSMD2	114784	broad.mit.edu	37	chr1	34117999	34117999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccttgcctggcgggtaggGttctgggtaatttggtgaga	5	13	16	7	1	1	1	0	1	1	1	2	2	2	1	2	5	1	3	2	5	2	5			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:34117999G>A	ENST00000373381.4	-	28	4686	c.4510C>T	c.(4510-4512)Ccc>Tcc	p.P1504S	CSMD2_ENST00000373380.1_Missense_Mutation_p.P377S|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1464	CUB 9.					integral to membrane|plasma membrane	protein binding	p.P1464S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGGGTAGGGTTCTGGGTAA	0.567													34	108					0	0	0	0	A	34117999	G	A	34117999	3	1	84	1	0	0	0	0	1	0	0	0	3977	1261	44	4	6241	4	CSMD2	1	34117999	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08		34117999	215132622	1	16201											
C8B	732	broad.mit.edu	37	chr1	57415367	57415367	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattttctctgtgacattgCgttcaaaatctgagtatgat	10	16	7	8	1	3	3	1	3	2	0	4	3	3	3	1	0	1	2	1	0	3	5			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:57415367C>A	ENST00000543257.1	-	7	1135	c.569G>T	c.(568-570)cGc>cTc	p.R190L	C8B_ENST00000535057.1_Missense_Mutation_p.R180L|C8B_ENST00000371237.4_Missense_Mutation_p.R242L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	242	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTGACATTGCGTTCAAAATC	0.343													3	77					0.115264	0.117945	1	0	A	57415367	C	A	57415367	3	1	84	1	0	0	0	0	1	0	0	0	2440	768	27	3	1078	3	C8B	1	57415367	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	23297368	57415367	191835254	2	16202											
PDE4B	5142	broad.mit.edu	37	chr1	66379018	66379018	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaaaagcaggagtgtGatgacggtgatggctgatga	14	8	16	3	1	0	7	0	6	0	1	0	8	0	8	0	3	1	2	0	3	3	0			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:66379018G>T	ENST00000329654.4	+	2	208	c.21G>T	c.(19-21)gtG>gtT	p.V7V	PDE4B_ENST00000371049.3_Silent_p.V7V	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	7					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.V7V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	GCAGGAGTGTGATGACGGTGA	0.393													33	95					1.8453e-21	2.19441e-21	1	0	T	66379018	G	T	66379018	2	4	84	1	0	0	0	0	0	0	0	1	11711	1277	45	2		2	PDE4B	1	66379018	Silent	SNP	G	TCGA-CN-5365-01A-01D-1434-08	8963651	66379018	182871603	3	16203											
ELTD1	64123	broad.mit.edu	37	chr1	79385868	79385868	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agattaggatgcctacatacCttattagtatttgtattgat	12	17	7	5	0	0	2	0	1	0	1	0	3	0	3	2	1	3	2	2	1	7	9			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:79385868C>G	ENST00000370742.3	-	10	1524	c.1461_splice	c.e10+1	p.K487_splice		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	487					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.K487N(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCCTACATACCTTATTAGTAT	0.313													18	67					0	0	0	0	G	79385868	C	G	79385868	5	3	84	1	0	0	0	0	0	0	1	0	5122	695	24	4	635	4	ELTD1	1	79385868	Splice_Site	SNP	C	TCGA-CN-5365-01A-01D-1434-08	13006850	79385868	169864753	4	16204											
GSTM2	2946	broad.mit.edu	37	chr1	110211613	110211613	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcctggactttcccaatgTaggtgcaggggaaggggcgg	7	7	19	8	1	0	0	0	0	0	0	1	2	1	2	2	8	1	2	2	8	3	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:110211613T>A	ENST00000369831.2	+	3	271		c.e3+2		GSTM2_ENST00000369829.2_Splice_Site|GSTM2_ENST00000464206.1_Splice_Site|GSTM2_ENST00000414179.2_Splice_Site|GSTM2_ENST00000442650.1_Splice_Site|GSTM2_ENST00000241337.4_Splice_Site|GSTM2_ENST00000460717.3_Splice_Site|GSTM2_ENST00000369827.3_Splice_Site					glutathione S-transferase mu 2 (muscle)									p.?(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTTCCCAATGTAGGTGCAGGG	0.517													20	106					0	0	0	0	A	110211613	T	A	110211613	5	1	84	1	0	0	0	0	0	0	1	0	6888	1652	57	5	189	5	GSTM2	1	110211613	Splice_Site	SNP	T	TCGA-CN-5365-01A-01D-1434-08	30825745	110211613	139039008	5	16205											
FLG	2312	broad.mit.edu	37	chr1	152279679	152279679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaaaactggatccccagttCctgcttgtcctgggcccctc	6	11	8	16	0	0	0	0	0	0	0	4	1	3	1	6	2	2	2	6	2	2	3	rs143745201		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:152279679C>A	ENST00000368799.1	-	3	7718	c.7683G>T	c.(7681-7683)agG>agT	p.R2561S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2561	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R2561R(1)|p.R2561S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCCCAGTTCCTGCTTGTCC	0.587									Ichthyosis				129	327					1.49341e-58	1.80853e-58	1	0	A	152279679	C	A	152279679	3	1	84	1	0	0	0	0	1	0	0	0	5967	854	30	2	4506	2	FLG	1	152279679	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	42068066	152279679	96970942	6	16206											
ATP1A2	477	broad.mit.edu	37	chr1	160100019	160100019	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcccgctcgacaaggAgatgcaagatgcctttcaaa	13	7	11	10	2	1	3	1	0	0	3	3	6	2	3	2	2	2	2	2	2	3	1			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:160100019A>G	ENST00000361216.3	+	12	1678	c.1589A>G	c.(1588-1590)gAg>gGg	p.E530G	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.E530G	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	530					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCGACAAGGAGATGCAAGAT	0.612													4	194					0	0	0	0	G	160100019	A	G	160100019	3	3	84	1	0	0	0	0	1	0	0	0	1133	304	11	5	1635	5	ATP1A2	1	160100019	Missense_Mutation	SNP	A	TCGA-CN-5365-01A-01D-1434-08	7820340	160100019	89150602	7	16207											
ASTN1	460	broad.mit.edu	37	chr1	176838011	176838011	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcctcacatcgccaggTgaattccccaaaactctcat	11	10	4	16	1	3	1	3	1	1	0	7	1	5	1	4	1	1	0	4	1	3	1			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:176838011T>G	ENST00000367654.2	-	22	3653	c.3640A>C	c.(3640-3642)Acc>Ccc	p.T1214P	ASTN1_ENST00000424564.2_Missense_Mutation_p.T1206P|ASTN1_ENST00000361833.2_Missense_Mutation_p.T1206P|ASTN1_ENST00000367657.3_Missense_Mutation_p.T1206P			O14525	ASTN1_HUMAN	astrotactin 1	1214					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						CATCGCCAGGTGAATTCCCCA	0.473													8	142					0	0	0	0	G	176838011	T	G	176838011	3	3	84	1	0	0	0	0	1	0	0	0	1068	1696	59	5	280	5	ASTN1	1	176838011	Missense_Mutation	SNP	T	TCGA-CN-5365-01A-01D-1434-08	16737992	176838011	72412610	8	16208											
ASPM	259266	broad.mit.edu	37	chr1	197070075	197070075	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtgcagattggttaacaAtggctgccatcttttcctct	9	14	9	9	0	2	2	0	0	2	2	3	2	3	2	2	2	3	3	2	2	2	4			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:197070075A>C	ENST00000367409.4	-	18	8562	c.8306T>G	c.(8305-8307)aTt>aGt	p.I2769S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2769					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGGTTAACAATGGCTGCCAT	0.378													6	190					0	0	0	0	C	197070075	A	C	197070075	3	2	84	1	0	0	0	0	1	0	0	0	1060	101	4	5	2171	5	ASPM	1	197070075	Missense_Mutation	SNP	A	TCGA-CN-5365-01A-01D-1434-08	20232064	197070075	52180546	9	16209											
PCNXL2	80003	broad.mit.edu	37	chr1	233388475	233388475	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttccttgcttagaacTgtgtccactgggcttttcat	5	18	9	9	0	1	1	1	0	0	1	3	1	3	1	2	2	2	3	2	2	2	6			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:233388475T>G	ENST00000258229.8	-	6	2128	c.1894A>C	c.(1894-1896)Agt>Cgt	p.S632R	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	632						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGCTTAGAACTGTGTCCACTG	0.408													7	161					0	0	0	0	G	233388475	T	G	233388475	3	3	84	1	0	0	0	0	1	0	0	0	11663	1580	55	5	4635	5	PCNXL2	1	233388475	Missense_Mutation	SNP	T	TCGA-CN-5365-01A-01D-1434-08	36318400	233388475	15862146	10	16210											
CDKL4	344387	broad.mit.edu	37	chr2	39456583	39456583	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccacaaattttttaacagCtactacttgtccagaggttt	11	16	5	9	0	0	1	0	0	0	1	2	1	2	1	2	1	4	2	2	1	4	8			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:39456583C>G	ENST00000378803.1	-	1	90	c.91G>C	c.(91-93)Gct>Cct	p.A31P	CDKL4_ENST00000395035.3_Missense_Mutation_p.A31P	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	31	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TTTTTAACAGCTACTACTTGT	0.323													4	199					0	0	0	0	G	39456583	C	G	39456583	3	3	84	1	0	0	0	0	1	0	0	0	3185	797	28	4	888	4	CDKL4	2	39456583	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08		39456583	203742790	11	16211											
MMADHC	27249	broad.mit.edu	37	chr2	150426656	150426656	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcatcagtttcaaaaagAgtgttgtttgtatatggtcc	10	16	9	6	1	3	1	3	0	0	1	4	1	4	1	1	1	0	5	1	1	4	6			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:150426656A>T	ENST00000428879.1	-	7	1227	c.723T>A	c.(721-723)acT>acA	p.T241T	MMADHC_ENST00000303319.5_Silent_p.T241T|MMADHC_ENST00000422782.2_Silent_p.T275T			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	241						mitochondrion				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						TTTCAAAAAGAGTGTTGTTTG	0.343													12	60					0	0	0	0	T	150426656	A	T	150426656	2	4	84	1	0	0	0	0	0	0	0	1	9711	291	11	5		5	MMADHC	2	150426656	Silent	SNP	A	TCGA-CN-5365-01A-01D-1434-08	110970073	150426656	92772717	12	16212											
NEB	4703	broad.mit.edu	37	chr2	152580789	152580789	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaccttgctgaacatggcGgtgttcttaacggcctggac	7	12	11	11	2	1	1	0	1	1	0	1	2	1	2	2	4	4	2	2	4	3	4			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:152580789G>C	ENST00000427231.2	-	8	799	c.597C>G	c.(595-597)acC>acG	p.T199T	NEB_ENST00000397345.3_Silent_p.T199T|NEB_ENST00000603639.1_Silent_p.T199T|NEB_ENST00000172853.10_Silent_p.T199T|NEB_ENST00000409198.1_Silent_p.T199T|NEB_ENST00000604864.1_Silent_p.T199T	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	199					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGAACATGGCGGTGTTCTTAA	0.453													7	31					0	0	0	0	C	152580789	G	C	152580789	2	2	84	1	0	0	0	0	0	0	0	1	10372	1103	39	3		3	NEB	2	152580789	Silent	SNP	G	TCGA-CN-5365-01A-01D-1434-08	2154133	152580789	90618584	13	16213											
DCAF17	80067	broad.mit.edu	37	chr2	172309702	172309702	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctacctttttcacttgtaggGattctagagatcaacaaaaa	14	13	6	8	0	3	1	2	0	1	1	3	3	3	2	1	1	2	1	1	1	6	7			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:172309702G>T	ENST00000375255.3	+	6	933	c.606G>T	c.(604-606)ggG>ggT	p.G202G	DCAF17_ENST00000539783.1_Silent_p.G202G|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	202						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		p.G202G(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						CACTTGTAGGGATTCTAGAGA	0.328													6	112					8.12818e-05	8.72293e-05	1	0	T	172309702	G	T	172309702	2	4	84	1	0	0	0	0	0	0	0	1	4302	1161	41	2		2	DCAF17	2	172309702	Silent	SNP	G	TCGA-CN-5365-01A-01D-1434-08	19728913	172309702	70889671	14	16214											
FSIP2	401024	broad.mit.edu	37	chr2	186670189	186670189	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgattgctgctctaaccCagaaggcaatatctgcattc	11	11	9	10	0	2	2	0	1	2	1	3	3	2	3	1	2	4	4	1	2	4	4			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:186670189C>G	ENST00000343098.5	+	17	16423	c.16423C>G	c.(16423-16425)Cag>Gag	p.Q5475E	FSIP2_ENST00000424728.1_Missense_Mutation_p.Q5386E	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGCTCTAACCCAGAAGGCAAT	0.363													5	207					0	0	0	0	G	186670189	C	G	186670189	3	3	84	1	0	0	0	0	1	0	0	0	6123	595	21	4	16489	4	FSIP2	2	186670189	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	14360487	186670189	56529184	15	16215											
FAM126B	285172	broad.mit.edu	37	chr2	201881853	201881853	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagtcgaacctctgagctaCgatagagctcaaacagctga	14	8	9	10	2	2	3	1	2	1	1	3	5	2	3	1	0	6	3	1	0	5	3			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:201881853C>G	ENST00000418596.2	-	5	381	c.194G>C	c.(193-195)cGt>cCt	p.R65P		NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	65						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTCTGAGCTACGATAGAGCTC	0.423													8	81					0	0	0	0	G	201881853	C	G	201881853	3	3	84	1	0	0	0	0	1	0	0	0	5471	536	19	3	1430	3	FAM126B	2	201881853	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	15211664	201881853	41317520	16	16216											
B3GNT7	93010	broad.mit.edu	37	chr2	232263354	232263354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcttcctcatggccggcagCctggcccggcgcctgcacca	4	6	13	18	3	1	0	1	0	0	0	2	0	2	0	6	5	2	3	6	5	0	1			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:232263354C>T	ENST00000287590.5	+	2	1185	c.924C>T	c.(922-924)agC>agT	p.S308S		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	308					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGGCCGGCAGCCTGGCCCGGC	0.652													13	15					0	0	0	0	T	232263354	C	T	232263354	2	4	84	1	0	0	0	0	0	0	0	1	1266	738	26	4		4	B3GNT7	2	232263354	Silent	SNP	C	TCGA-CN-5365-01A-01D-1434-08	30381501	232263354	10936019	17	16217											
SETD2	29072	broad.mit.edu	37	chr3	47164649	47164649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctcagttttacagtcccGatcagatttagaataggatg	11	13	10	7	1	2	2	2	0	1	2	4	4	3	3	1	2	1	1	1	2	4	5			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:47164649G>A	ENST00000409792.3	-	3	1519	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTACAGTCCCGATCAGATTTA	0.383			"N, F, S, Mis"		clear cell renal carcinoma								3	46					0	0	0	0	A	47164649	G	A	47164649	3	1	84	1	0	0	0	0	1	0	0	0	14218	1057	37	1	6293	1	SETD2	3	47164649	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08		47164649	150857781	18	16218											
PBRM1	55193	broad.mit.edu	37	chr3	52651513	52651513	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgagcttcaagaacaacaTtgaataagattttcattcgc	14	12	6	9	2	2	3	2	1	0	2	4	4	2	3	0	0	3	1	0	0	5	6			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:52651513T>A	ENST00000356770.4	-	13	1489	c.1487A>T	c.(1486-1488)aAt>aTt	p.N496I	PBRM1_ENST00000409767.1_Missense_Mutation_p.N543I|PBRM1_ENST00000296302.7_Missense_Mutation_p.N528I|PBRM1_ENST00000394830.3_Missense_Mutation_p.N528I|PBRM1_ENST00000409114.3_Missense_Mutation_p.N543I|PBRM1_ENST00000337303.4_Missense_Mutation_p.N528I|PBRM1_ENST00000409057.1_Missense_Mutation_p.N528I|PBRM1_ENST00000410007.1_Missense_Mutation_p.N528I			Q86U86	PB1_HUMAN	polybromo 1	528					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.N528fs*41(2)|p.N496fs*41(1)|p.N528I(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAGAACAACATTGAATAAGAT	0.348			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								33	51					0	0	0	0	A	52651513	T	A	52651513	3	1	84	1	0	0	0	0	1	0	0	0	11562	1493	52	5	3385	5	PBRM1	3	52651513	Missense_Mutation	SNP	T	TCGA-CN-5365-01A-01D-1434-08	5486864	52651513	145370917	19	16219											
CADPS	8618	broad.mit.edu	37	chr3	62388773	62388773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctttaccatcctaattaGtgttttcaactgataaatat	13	17	3	8	0	1	1	1	1	0	0	2	1	2	1	3	0	3	1	3	0	8	9			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:62388773G>T	ENST00000383710.4	-	29	4214	c.3865C>A	c.(3865-3867)Cta>Ata	p.L1289I	CADPS_ENST00000357948.3_Missense_Mutation_p.L1210I|CADPS_ENST00000283269.9_Missense_Mutation_p.L1250I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1289	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATCCTAATTAGTGTTTTCAAC	0.373													14	35					0.00185496	0.00194329	1	0	T	62388773	G	T	62388773	3	4	84	1	0	0	0	0	1	0	0	0	2595	1020	36	4	204	4	CADPS	3	62388773	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	9737260	62388773	135633657	20	16220											
CCDC14	64770	broad.mit.edu	37	chr3	123633809	123633809	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacagacagtattgcctttCacttgaaggctgttgctaag	10	13	9	9	0	2	2	2	1	0	1	2	2	2	2	1	1	2	4	1	1	3	6			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:123633809C>T	ENST00000485727.1	-	9	6671	c.2079G>A	c.(2077-2079)gtG>gtA	p.V693V	CCDC14_ENST00000488653.2_Silent_p.V893V|CCDC14_ENST00000433542.2_Silent_p.V852V|CCDC14_ENST00000310351.4_Silent_p.V733V|CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000489746.1_Silent_p.V693V			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	893						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TATTGCCTTTCACTTGAAGGC	0.458													11	48					0	0	0	0	T	123633809	C	T	123633809	2	4	84	1	0	0	0	0	0	0	0	1	2798	813	29	2		2	CCDC14	3	123633809	Silent	SNP	C	TCGA-CN-5365-01A-01D-1434-08	61245036	123633809	74388621	21	16221											
PLCH1	23007	broad.mit.edu	37	chr3	155301387	155301387	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttgtaaaaaacacagaaCtcttcaaatgtcaaagttcc	17	12	4	8	0	3	1	2	0	1	1	4	1	4	1	1	0	2	2	1	0	6	5			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:155301387C>T	ENST00000460012.1	-	6	912	c.555G>A	c.(553-555)gaG>gaA	p.E185E	PLCH1_ENST00000447496.2_Silent_p.E203E|PLCH1_ENST00000414191.1_Silent_p.E185E|PLCH1_ENST00000340059.7_Silent_p.E203E|PLCH1_ENST00000494598.1_Silent_p.E203E|PLCH1_ENST00000334686.6_Silent_p.E185E			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	203	EF-hand 2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E185E(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAACACAGAACTCTTCAAATG	0.358													35	58					0	0	0	0	T	155301387	C	T	155301387	2	4	84	1	0	0	0	0	0	0	0	1	12109	564	20	4		4	PLCH1	3	155301387	Silent	SNP	C	TCGA-CN-5365-01A-01D-1434-08	31667578	155301387	42721043	22	16222											
ZBBX	79740	broad.mit.edu	37	chr3	167000124	167000124	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcattctggtcagtaataTcaatatattcaatttctgaa	13	16	5	7	0	6	1	4	1	2	0	6	1	6	1	0	1	0	2	0	1	7	7			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:167000124T>C	ENST00000392766.2	-	19	2379	c.2039A>G	c.(2038-2040)gAt>gGt	p.D680G	ZBBX_ENST00000392764.1_Missense_Mutation_p.D651G|ZBBX_ENST00000392767.2_Missense_Mutation_p.D680G|ZBBX_ENST00000455345.2_Missense_Mutation_p.D719G|ZBBX_ENST00000307529.5_Missense_Mutation_p.D719G	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	680						intracellular	zinc ion binding	p.D719G(1)|p.D680G(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTCAGTAATATCAATATATTC	0.383													18	162					0	0	0	0	C	167000124	T	C	167000124	3	2	84	1	0	0	0	0	1	0	0	0	17612	1435	50	5	375	5	ZBBX	3	167000124	Missense_Mutation	SNP	T	TCGA-CN-5365-01A-01D-1434-08	11698737	167000124	31022306	23	16223											
LRRC34	151827	broad.mit.edu	37	chr3	169514642	169514643	+	Frame_Shift_Del	DEL	AG	AG	-																															catgtgtagtgcaacaagacAgtgattttctttcaacatgc																										TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:169514642_169514643delAG	ENST00000522526.2	-	7	1139_1140	c.702_703delCT	c.(700-705)cagtfs	p.HC234fs	LRRC34_ENST00000522830.1_Frame_Shift_Del_p.HC205fs|LRRC34_ENST00000316515.7_Frame_Shift_Del_p.HC221fs|LRRC34_ENST00000446859.1_Frame_Shift_Del_p.HC266fs|LRRC34_ENST00000524327.1_5'UTR			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	221										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GCAACAAGACAGTGATTTTCTT	0.351													20	214	---	---	---	---					-	169514643	AG	-	169514642	7	5	84	1	0	1	0	1	0	0	0	0	9053	188	7	0	633	0	LRRC34	3	169514642	Frame_Shift_Del	DEL	AG	TCGA-CN-5365-01A-01D-1434-08	2514518	169514642	28507788	24	16224											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			20	122					0	0	0	0	A	178936091	G	A	178936091	3	1	84	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	9421449	178936091	19086339	25	16225											
BEND4	389206	broad.mit.edu	37	chr4	42145872	42145872	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacagtgctcctgtctttcGttgtaacttgagccttcctg	5	16	9	11	1	1	2	0	2	1	0	4	2	3	2	3	0	3	3	3	0	1	5			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:42145872G>A	ENST00000502486.1	-	3	1206	c.627C>T	c.(625-627)aaC>aaT	p.N209N	BEND4_ENST00000504360.1_Silent_p.N205N	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	209								p.N205N(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CCTGTCTTTCGTTGTAACTTG	0.443													11	38					0	0	0	0	A	42145872	G	A	42145872	2	1	84	1	0	0	0	0	0	0	0	1	1404	1136	40	1		1	BEND4	4	42145872	Silent	SNP	G	TCGA-CN-5365-01A-01D-1434-08		42145872	149008404	26	16226											
UGT2B17	7367	broad.mit.edu	37	chr4	69433815	69433815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttgttcaaaactgcatCttcacagagctttatattat	11	18	4	8	0	4	1	2	0	2	1	4	1	4	1	0	0	3	3	0	0	5	8			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:69433815C>T	ENST00000317746.2	-	1	430	c.388G>A	c.(388-390)Gat>Aat	p.D130N		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	130					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AAAACTGCATCTTCACAGAGC	0.348													66	200					0	0	0	0	T	69433815	C	T	69433815	3	4	84	1	0	0	0	0	1	0	0	0	17055	913	32	2	1228	2	UGT2B17	4	69433815	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	27287943	69433815	121720461	27	16227											
FAT4	79633	broad.mit.edu	37	chr4	126369690	126369690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aactgcattattctctttcgGgtagaaattctgaaaaattt	13	16	6	6	1	2	2	0	1	2	1	4	2	2	2	0	1	2	2	0	1	6	6			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:126369690G>T	ENST00000394329.3	+	9	7532	c.7519G>T	c.(7519-7521)Ggt>Tgt	p.G2507C	FAT4_ENST00000335110.5_Missense_Mutation_p.G805C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2507	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G2507C(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCTCTTTCGGGTAGAAATTC	0.423													9	129					2.17888e-05	2.35747e-05	1	0	T	126369690	G	T	126369690	3	4	84	1	0	0	0	0	1	0	0	0	5737	1232	43	4	7553	4	FAT4	4	126369690	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	56935875	126369690	64784586	28	16228											
NPY5R	4889	broad.mit.edu	37	chr4	164272513	164272513	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagaataaaaaagagatCtcgaagtgttttctacagac	18	10	7	6	1	2	3	0	0	2	3	3	5	2	3	0	0	2	1	0	0	8	5			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:164272513C>A	ENST00000515560.1	+	4	2610	c.1088C>A	c.(1087-1089)tCt>tAt	p.S363Y	NPY5R_ENST00000506953.1_Missense_Mutation_p.S363Y|NPY5R_ENST00000338566.3_Missense_Mutation_p.S363Y			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	363					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.S363Y(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAAAGAGATCTCGAAGTGTT	0.358													16	110					0.000422831	0.00044651	1	0	A	164272513	C	A	164272513	3	1	84	1	0	0	0	0	1	0	0	0	10681	913	32	2	1090	2	NPY5R	4	164272513	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	37902823	164272513	26881763	29	16229											
PRDM9	56979	broad.mit.edu	37	chr5	23510109	23510109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgacacagaagattctGatgaagaatggacccctagg	14	8	12	7	0	1	6	0	3	1	3	1	8	1	8	2	3	0	0	2	3	4	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:23510109G>T	ENST00000296682.3	+	4	456	c.274G>T	c.(274-276)Gat>Tat	p.D92Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	92					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGATTCTGATGAAGAATG	0.433										HNSCC(3;0.000094)			11	85					2.80697e-09	3.25018e-09	1	0	T	23510109	G	T	23510109	3	4	84	1	0	0	0	0	1	0	0	0	12543	1290	45	2	284	2	PRDM9	5	23510109	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08		23510109	157405151	30	16230											
FYB	2533	broad.mit.edu	37	chr5	39110492	39110492	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actccgaaggacataaccatCtacgaaggaaaaaggaaata	20	5	8	8	2	1	0	0	0	1	0	2	5	2	3	2	3	2	0	2	3	8	3			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:39110492C>G	ENST00000351578.6	-	16	2454		c.e16-1		FYB_ENST00000515010.1_Splice_Site|FYB_ENST00000505428.1_Splice_Site|FYB_ENST00000540520.1_Splice_Site|FYB_ENST00000512982.1_Splice_Site	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein						cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ACATAACCATCTACGAAGGAA	0.308													5	49					0	0	0	0	G	39110492	C	G	39110492	5	3	84	1	0	0	0	0	0	0	1	0	6172	927	32	2	100	2	FYB	5	39110492	Splice_Site	SNP	C	TCGA-CN-5365-01A-01D-1434-08	15600383	39110492	141804768	31	16231											
CARD6	84674	broad.mit.edu	37	chr5	40854367	40854367	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaatcctgtcagtcccAgccctcccaaactaaacctt	13	8	4	16	0	1	0	1	0	0	0	4	1	4	0	5	0	3	0	5	0	5	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:40854367A>T	ENST00000254691.5	+	3	3132	c.2933A>T	c.(2932-2934)cAg>cTg	p.Q978L	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	978	Pro-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGTCAGTCCCAGCCCTCCCAA	0.532													12	513					0	0	0	0	T	40854367	A	T	40854367	3	4	84	1	0	0	0	0	1	0	0	0	2675	188	7	5	2943	5	CARD6	5	40854367	Missense_Mutation	SNP	A	TCGA-CN-5365-01A-01D-1434-08	1743875	40854367	140060893	32	16232											
ZFYVE16	9765	broad.mit.edu	37	chr5	79734565	79734565	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagataccgttgttccaatCacttgtgctatagattctac	10	14	7	10	1	2	2	1	0	1	2	3	2	3	2	2	0	3	4	2	0	5	8			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:79734565C>T	ENST00000338008.5	+	3	2241	c.2061C>T	c.(2059-2061)atC>atT	p.I687I	ZFYVE16_ENST00000505560.1_Silent_p.I687I|ZFYVE16_ENST00000510158.1_Silent_p.I687I	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	687					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTGTTCCAATCACTTGTGCTA	0.403													4	128					0	0	0	0	T	79734565	C	T	79734565	2	4	84	1	0	0	0	0	0	0	0	1	17759	816	29	2		2	ZFYVE16	5	79734565	Silent	SNP	C	TCGA-CN-5365-01A-01D-1434-08	38880198	79734565	101180695	33	16233											
RIOK2	55781	broad.mit.edu	37	chr5	96503521	96503521	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttcactttcattttctgaCccgtaaacctctgctttttc	6	18	4	13	2	4	1	2	1	2	0	5	1	4	1	2	0	2	3	2	0	2	7			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:96503521C>G	ENST00000283109.3	-	8	1115	c.1047G>C	c.(1045-1047)ggG>ggC	p.G349G	RIOK2_ENST00000508447.1_Silent_p.G349G|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	349	Protein kinase.		G -> R (in dbSNP:rs160632).				ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CATTTTCTGACCCGTAAACCT	0.393													50	279					0	0	0	0	G	96503521	C	G	96503521	2	3	84	1	0	0	0	0	0	0	0	1	13463	494	18	4		4	RIOK2	5	96503521	Silent	SNP	C	TCGA-CN-5365-01A-01D-1434-08	16768956	96503521	84411739	34	16234											
VDAC1	7416	broad.mit.edu	37	chr5	133326807	133326807	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagactgcccgtcactttGgtggtctcagtgttggctga	5	13	12	11	1	2	2	2	1	1	1	4	2	3	2	2	3	1	2	2	3	0	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:133326807G>C	ENST00000265333.3	-	4	400	c.156C>G	c.(154-156)acC>acG	p.T52T	VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Silent_p.T52T|VDAC1_ENST00000395044.3_Silent_p.T52T	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	52					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CCGTCACTTTGGTGGTCTCAG	0.488													32	167					0	0	0	0	C	133326807	G	C	133326807	2	2	84	1	0	0	0	0	0	0	0	1	17242	1335	47	4		4	VDAC1	5	133326807	Silent	SNP	G	TCGA-CN-5365-01A-01D-1434-08	36823286	133326807	47588453	35	16235											
PCDHGA5	56110	broad.mit.edu	37	chr5	140746136	140746136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtgggcgtggatggggttCgggctttcctgcagacctat	4	13	16	8	2	0	1	0	0	0	1	2	2	1	2	2	5	1	3	2	5	1	4			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:140746136C>T	ENST00000518069.1	+	1	2239	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.R747W(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGGGGTTCGGGCTTTCCT	0.627													49	125					0	0	0	0	T	140746136	C	T	140746136	3	4	84	1	0	0	0	0	1	0	0	0	11628	875	31	1	2241	1	PCDHGA5	5	140746136	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	7419329	140746136	40169124	36	16236											
RNF145	153830	broad.mit.edu	37	chr5	158630641	158630641	+	Frame_Shift_Del	DEL	C	C	-																															gccatgttgtttttttttttCtttttttttttcttggagaa																								rs74770414		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:158630641delC	ENST00000274542.2	-	2	95	c.69delG	c.(67-69)aafs	p.K26fs	RNF145_ENST00000521606.2_Frame_Shift_Del_p.K15fs|RNF145_ENST00000518802.1_Frame_Shift_Del_p.K28fs|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000520638.1_Frame_Shift_Del_p.K12fs|RNF145_ENST00000424310.2_5'UTR	NM_144726.2	NP_653327.1	Q96MT1	RN145_HUMAN	ring finger protein 145	0						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttttttttttctttttttttt	0.363													7	87	---	---	---	---					-	158630641	C	-	158630641	7	5	84	1	0	1	0	1	0	0	0	0	13532	912	32	0	2046	0	RNF145	5	158630641	Frame_Shift_Del	DEL	C	TCGA-CN-5365-01A-01D-1434-08	17884505	158630641	22284619	37	16237											
SERPINB6	5269	broad.mit.edu	37	chr6	2953378	2953378	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagaaccagccttgtcAatggatccactgagcccgga	11	7	9	14	1	2	2	2	1	0	1	3	4	3	4	5	2	3	0	5	2	2	1			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:2953378A>C	ENST00000380520.1	-	4	2467	c.473T>G	c.(472-474)tTg>tGg	p.L158W	SERPINB6_ENST00000380529.1_Missense_Mutation_p.L158W|SERPINB6_ENST00000335686.5_Missense_Mutation_p.L158W|SERPINB6_ENST00000380524.1_Missense_Mutation_p.L158W|SERPINB6_ENST00000380539.1_Missense_Mutation_p.L158W|SERPINB6_ENST00000380546.3_Missense_Mutation_p.L158W			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	158					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	p.L158W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CAGCCTTGTCAATGGATCCAC	0.502											OREG0017145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	475					0	0	0	0	C	2953378	A	C	2953378	3	2	84	1	0	0	0	0	1	0	0	0	14192	131	5	5	669	5	SERPINB6	6	2953378	Missense_Mutation	SNP	A	TCGA-CN-5365-01A-01D-1434-08		2953378	168161689	38	16238											
OR2J2	26707	broad.mit.edu	37	chr6	29141542	29141542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacactgacaggaaacCtgttcatcatcatcctgtca	12	11	7	11	0	4	3	4	3	0	0	5	4	5	4	2	1	1	1	2	1	1	1			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:29141542C>G	ENST00000377167.2	+	1	232	c.130C>G	c.(130-132)Ctg>Gtg	p.L44V		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GACAGGAAACCTGTTCATCAT	0.428													57	315					0	0	0	0	G	29141542	C	G	29141542	3	3	84	1	0	0	0	0	1	0	0	0	11074	680	24	4	132	4	OR2J2	6	29141542	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	26188164	29141542	141973525	39	16239											
MUC21	394263	broad.mit.edu	37	chr6	30954441	30954441	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaacctccagtgaggccagCacagccaccaactctgagtc	12	5	8	16	0	1	2	0	2	1	0	3	2	2	2	5	1	4	1	5	1	2	0			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:30954441C>T	ENST00000376296.3	+	2	730	c.489C>T	c.(487-489)agC>agT	p.S163S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	163	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S163S(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GTGAGGCCAGCACAGCCACCA	0.617													71	290					0	0	0	0	T	30954441	C	T	30954441	2	4	84	1	0	0	0	0	0	0	0	1	10047	709	25	4		4	MUC21	6	30954441	Silent	SNP	C	TCGA-CN-5365-01A-01D-1434-08	1812899	30954441	140160626	40	16240			1	24		2	2	15	C		4.748452e-05
MUC21	394263	broad.mit.edu	37	chr6	30954455	30954455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccagcacagccaccaactCtgagtccagcacaacctcca	12	4	7	18	0	1	1	0	1	1	0	3	1	3	1	6	1	5	2	6	1	2	0			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:30954455C>G	ENST00000376296.3	+	2	744	c.503C>G	c.(502-504)tCt>tGt	p.S168C	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	168	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S168C(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGAGTCCAGC	0.607													77	317					0	0	0	0	G	30954455	C	G	30954455	3	3	84	1	0	0	0	0	1	0	0	0	10047	913	32	2	509	2	MUC21	6	30954455	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	14	30954455	140160612	41	16241			1	24		2	2	15	C		4.748452e-05
MEP1A	4224	broad.mit.edu	37	chr6	46802421	46802421	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctggagtggtttcatttcCcaccaaatgctgaaaaggag	11	10	12	8	0	1	1	1	1	0	0	2	3	2	3	2	4	1	3	2	4	3	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:46802421C>G	ENST00000230588.4	+	12	1725	c.1716C>G	c.(1714-1716)tcC>tcG	p.S572S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	572	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GTTTCATTTCCCACCAAATGC	0.438													6	183					0	0	0	0	G	46802421	C	G	46802421	2	3	84	1	0	0	0	0	0	0	0	1	9544	610	22	4		4	MEP1A	6	46802421	Silent	SNP	C	TCGA-CN-5365-01A-01D-1434-08	15847966	46802421	124312646	42	16242											
EPHA7	2045	broad.mit.edu	37	chr6	93955046	93955046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctggctactgattcaaggGaattgtagccagctgccgtg	8	11	12	10	1	1	1	1	1	0	0	2	2	2	2	3	2	4	3	3	2	4	4	rs141581954		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:93955046G>T	ENST00000369303.4	-	16	3036	c.2852C>A	c.(2851-2853)tCc>tAc	p.S951Y		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	951	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S951F(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGATTCAAGGGAATTGTAGCC	0.338													5	82					0.184627	0.187468	1	0	T	93955046	G	T	93955046	3	4	84	1	0	0	0	0	1	0	0	0	5210	1174	41	2	152	2	EPHA7	6	93955046	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	47152625	93955046	77160021	43	16243											
SLC22A16	85413	broad.mit.edu	37	chr6	110763885	110763885	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggttccaactgcaaaaaAggaatgcaaatggacagacg	17	5	11	8	1	0	1	0	0	0	1	1	3	1	3	1	3	3	3	1	3	6	1			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:110763885A>C	ENST00000368919.3	-	4	811	c.745T>G	c.(745-747)Ttt>Gtt	p.F249V	SLC22A16_ENST00000439654.1_Missense_Mutation_p.F249V|SLC22A16_ENST00000330550.4_Missense_Mutation_p.F215V|SLC22A16_ENST00000456137.2_3'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	249					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.F249V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACTGCAAAAAAGGAATGCAAA	0.483													24	80					0	0	0	0	C	110763885	A	C	110763885	3	2	84	1	0	0	0	0	1	0	0	0	14535	72	3	5	1008	5	SLC22A16	6	110763885	Missense_Mutation	SNP	A	TCGA-CN-5365-01A-01D-1434-08	16808839	110763885	60351182	44	16244											
NKAIN2	154215	broad.mit.edu	37	chr6	124979372	124979372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttaatatatcaatgcaccGatcttggtggatggagaatg	12	14	10	5	1	2	1	1	0	1	1	2	4	2	2	1	3	1	1	1	3	5	5			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:124979372G>A	ENST00000368417.1	+	4	374	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	NKAIN2_ENST00000368416.1_Missense_Mutation_p.R105Q|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Missense_Mutation_p.R90Q	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	105						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TCAATGCACCGATCTTGGTGG	0.463													20	95					0	0	0	0	A	124979372	G	A	124979372	3	1	84	1	0	0	0	0	1	0	0	0	10506	1058	37	1	328	1	NKAIN2	6	124979372	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	14215487	124979372	46135695	45	16245											
RNF217	154214	broad.mit.edu	37	chr6	125369384	125369384	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtactgagactaagatCtttgttctttgtgatgaaca	10	15	8	8	0	2	4	0	3	2	2	2	5	2	4	1	0	2	2	1	0	3	5			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:125369384C>A	ENST00000275184.6	+	1	27	c.27C>A	c.(25-27)atC>atA	p.I9I	RNF217_ENST00000521654.2_Intron|RNF217_ENST00000368414.2_Intron|RNF217_ENST00000560949.1_Intron|RNF217_ENST00000359704.2_Intron			Q8TC41	RN217_HUMAN	ring finger protein 217	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGACTAAGATCTTTGTTCTTT	0.378													6	16					0.00198382	0.00206192	1	0	A	125369384	C	A	125369384	2	1	84	1	0	0	0	0	0	0	0	1	13566	928	32	2		2	RNF217	6	125369384	Silent	SNP	C	TCGA-CN-5365-01A-01D-1434-08	390012	125369384	45745683	46	16246											
RAET1E	135250	broad.mit.edu	37	chr6	150210664	150210664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcattgcgtcaaagaggaGggatttctctccattggtgg	8	13	13	7	1	3	1	2	0	1	1	5	3	4	3	1	4	1	1	1	4	1	4			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:150210664G>T	ENST00000532335.1	-	4	788	c.442C>A	c.(442-444)Ctc>Atc	p.L148I	RAET1E_ENST00000529948.1_Missense_Mutation_p.L148I|RAET1E_ENST00000357183.4_Missense_Mutation_p.L148I|RAET1E_ENST00000367363.3_Missense_Mutation_p.L112I|RP11-244K5.8_ENST00000606915.1_RNA|RP11-244K5.1_ENST00000605899.1_RNA	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	148	MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TCAAAGAGGAGGGATTTCTCT	0.468													6	162					1.12685e-05	1.22929e-05	1	0	T	150210664	G	T	150210664	3	4	84	1	0	0	0	0	1	0	0	0	13081	1000	35	4	357	4	RAET1E	6	150210664	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	24841280	150210664	20904403	47	16247											
MTRF1L	54516	broad.mit.edu	37	chr6	153316432	153316432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattttcatctgtttcttctGagggaaccaaaagtaagata	13	14	7	7	0	4	2	1	1	3	1	4	3	4	3	1	1	1	2	1	1	5	6			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:153316432G>A	ENST00000367233.5	-	3	361	c.362C>T	c.(361-363)tCa>tTa	p.S121L	MTRF1L_ENST00000367230.1_Missense_Mutation_p.S121L|MTRF1L_ENST00000464135.1_Intron|MTRF1L_ENST00000367231.5_Missense_Mutation_p.S121L	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	121						mitochondrion	translation release factor activity, codon specific	p.S121L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TGTTTCTTCTGAGGGAACCAA	0.313													5	48					0	0	0	0	A	153316432	G	A	153316432	3	1	84	1	0	0	0	0	1	0	0	0	10030	1294	45	2	800	2	MTRF1L	6	153316432	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	3105768	153316432	17798635	48	16248											
THSD7A	221981	broad.mit.edu	37	chr7	11464388	11464388	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacaaaggtcaccttgcaGatgctccagggctctgtgac	9	10	10	12	0	3	2	2	1	1	1	4	2	4	2	2	2	2	3	2	2	1	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:11464388G>A	ENST00000423059.3	-	16	3569	c.3318C>T	c.(3316-3318)atC>atT	p.I1106I	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1106	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCACCTTGCAGATGCTCCAGG	0.493										HNSCC(18;0.044)			43	265					0	0	0	0	A	11464388	G	A	11464388	2	1	84	1	0	0	0	0	0	0	0	1	15973	932	33	2		2	THSD7A	7	11464388	Silent	SNP	G	TCGA-CN-5365-01A-01D-1434-08		11464388	147674275	49	16249											
SEMA3A	10371	broad.mit.edu	37	chr7	83590840	83590840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttccaaacttgttcacaGaactcatccattgtgttgag	10	15	6	10	0	2	2	2	1	0	1	4	2	4	2	2	0	2	2	2	0	2	6			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:83590840G>A	ENST00000265362.3	-	17	2477	c.2163C>T	c.(2161-2163)ttC>ttT	p.F721F	SEMA3A_ENST00000436949.1_Silent_p.F721F	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	721					axon guidance	extracellular region|membrane	receptor activity	p.F721F(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTGTTCACAGAACTCATCCA	0.453													16	176					0	0	0	0	A	83590840	G	A	83590840	2	1	84	1	0	0	0	0	0	0	0	1	14111	933	33	2		2	SEMA3A	7	83590840	Silent	SNP	G	TCGA-CN-5365-01A-01D-1434-08	72126452	83590840	75547823	50	16250											
GRM3	2913	broad.mit.edu	37	chr7	86394556	86394556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataactttctaaggagagAgattaaaatagaaggtgacc	17	9	9	6	0	1	4	0	1	1	3	1	6	1	4	2	2	1	0	2	2	6	5			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:86394556A>G	ENST00000361669.2	+	2	1194	c.95A>G	c.(94-96)gAg>gGg	p.E32G	GRM3_ENST00000394720.2_Missense_Mutation_p.E30G|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.E32G	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	32					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTAAGGAGAGAGATTAAAATA	0.408													7	204					0	0	0	0	G	86394556	A	G	86394556	3	3	84	1	0	0	0	0	1	0	0	0	6848	304	11	5	97	5	GRM3	7	86394556	Missense_Mutation	SNP	A	TCGA-CN-5365-01A-01D-1434-08	2803716	86394556	72744107	51	16251											
INSIG1	3638	broad.mit.edu	37	chr7	155093339	155093339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaccccacaaatttaagaGagaatgggccagtgtcatgc	15	7	10	9	0	1	3	1	0	0	3	1	4	1	3	3	1	2	0	3	1	4	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:155093339G>C	ENST00000340368.4	+	3	687	c.476G>C	c.(475-477)aGa>aCa	p.R159T	INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	159					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	p.R159T(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAATTTAAGAGAGAATGGGCC	0.443													79	197					0	0	0	0	C	155093339	G	C	155093339	3	2	84	1	0	0	0	0	1	0	0	0	7818	942	33	2	482	2	INSIG1	7	155093339	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	68698783	155093339	4045324	52	16252											
ADRB3	155	broad.mit.edu	37	chr8	37823588	37823588	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcacagccaggtagcggtCcacggccagggcgcacaggg	8	3	17	13	3	1	0	1	0	0	0	2	0	2	0	3	6	2	2	3	6	1	1			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr8:37823588C>A	ENST00000345060.3	-	1	895	c.400G>T	c.(400-402)Gac>Tac	p.D134Y		NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	134					carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	AGGTAGCGGTCCACGGCCAGG	0.692													8	10					1.12685e-05	1.22929e-05	1	0	A	37823588	C	A	37823588	3	1	84	1	0	0	0	0	1	0	0	0	342	855	30	2	834	2	ADRB3	8	37823588	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08		37823588	108540434	53	16253											
STK3	6788	broad.mit.edu	37	chr8	99468078	99468078	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaaattagactcaaaagtTttgctgccttcttttctttg	10	17	7	7	0	3	1	1	0	2	1	3	2	3	2	1	1	2	2	1	1	4	7			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr8:99468078T>G	ENST00000523601.1	-	13	1951	c.1552A>C	c.(1552-1554)Aac>Cac	p.N518H	STK3_ENST00000419617.2_Missense_Mutation_p.N490H	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	490					apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	p.N490H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		ACTCAAAAGTTTTGCTGCCTT	0.388													6	55					0	0	0	0	G	99468078	T	G	99468078	3	3	84	1	0	0	0	0	1	0	0	0	15385	1841	64	5	11	5	STK3	8	99468078	Missense_Mutation	SNP	T	TCGA-CN-5365-01A-01D-1434-08	61644490	99468078	46895944	54	16254											
NOTCH1	4851	broad.mit.edu	37	chr9	139413947	139413947	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcacgccgtccacacaGgcacccccgttcttgcagtt	6	10	9	16	3	2	0	1	0	1	0	3	0	3	0	4	1	1	5	4	1	0	4			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr9:139413947G>A	ENST00000277541.6	-	5	888	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	271	EGF-like 7; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTCCACACAGGCACCCCCGT	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			41	126					0	0	0	0	A	139413947	G	A	139413947	2	1	84	1	0	0	0	0	0	0	0	1	10617	987	35	4		4	NOTCH1	9	139413947	Silent	SNP	G	TCGA-CN-5365-01A-01D-1434-08		139413947	1799484	55	16255											
PNPLA7	375775	broad.mit.edu	37	chr9	140361788	140361788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggcccactgcttggccCggatccgcatctggctgtag	4	9	12	16	3	1	0	0	0	1	0	3	1	2	1	4	4	1	4	4	4	1	2	rs28415505		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr9:140361788C>T	ENST00000406427.1	-	26	3356	c.3020G>A	c.(3019-3021)cGg>cAg	p.R1007Q	PNPLA7_ENST00000371457.1_Missense_Mutation_p.R588Q|PNPLA7_ENST00000277531.4_Missense_Mutation_p.R982Q|PNPLA7_ENST00000492278.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	982	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTGCTTGGCCCGGATCCGCAT	0.672													18	39					0	0	0	0	T	140361788	C	T	140361788	3	4	84	1	0	0	0	0	1	0	0	0	12242	652	23	1	1048	1	PNPLA7	9	140361788	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	947841	140361788	851643	56	16256											
AGAP11	119385	broad.mit.edu	37	chr10	88767684	88767686	+	RNA	DEL	TCT	TCT	-																															tccaaacaacagaaaatgtaTcttttttttttttttttttt																								rs71019446		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:88767684_88767686delTCT	ENST00000444431.1	+	0	2711				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AGAAAATGTATCttttttttttt	0.414													4	5	---	---	---	---					-	88767686	TCT	-	88767684	6	5	84	0	1	1	0	1	0	0	0	0	367	1450	50	0		0	AGAP11	10	88767684	RNA	DEL	TCT	TCGA-CN-5365-01A-01D-1434-08		88767684	46767063	57	16257											
ZNF518A	9849	broad.mit.edu	37	chr10	97919954	97919954	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagaacctccaagaagaaAagcaacattgcatagaaagt	20	5	7	9	0	0	4	0	0	0	4	1	4	1	4	3	0	4	2	3	0	9	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:97919954A>T	ENST00000534948.1	+	0	4732							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CCAAGAAGAAAAGCAACATTG	0.373													7	23					0	0	0	0	T	97919954	A	T	97919954	1	4	84	0	1	0	0	0	0	0	0	0	18057	14	1	5		5	ZNF518A	10	97919954	RNA	SNP	A	TCGA-CN-5365-01A-01D-1434-08	9152270	97919954	37614793	58	16258											
EIF3A	8661	broad.mit.edu	37	chr10	120809363	120809363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctcttcctctctacgccGttctcgttcttcaatttcca	4	18	3	16	3	6	0	1	0	5	0	11	0	8	0	3	0	1	2	3	0	2	6	rs150064739		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:120809363G>A	ENST00000369144.3	-	17	2735	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.R836W	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	870	Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCTCTACGCCGTTCTCGTTCT	0.403													103	274					0	0	0	0	A	120809363	G	A	120809363	3	1	84	1	0	0	0	0	1	0	0	0	5048	1144	40	1	1564	1	EIF3A	10	120809363	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	22889409	120809363	14725384	59	16259											
EIF3A	8661	broad.mit.edu	37	chr10	120820798	120820798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagccaattgtaaaggtCtttcacttctgggacaacat	12	13	7	9	0	4	0	2	0	2	0	4	1	4	1	1	2	2	1	1	2	5	5			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:120820798C>A	ENST00000369144.3	-	8	1292	c.1165G>T	c.(1165-1167)Gac>Tac	p.D389Y	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.D355Y	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	389	PCI.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTGTAAAGGTCTTTCACTTCT	0.348													19	92					8.00594e-06	8.9558e-06	1	0	A	120820798	C	A	120820798	3	1	84	1	0	0	0	0	1	0	0	0	5048	913	32	2	3043	2	EIF3A	10	120820798	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	11435	120820798	14713949	60	16260											
ACADSB	36	broad.mit.edu	37	chr10	124800144	124800144	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattagaaaacatggaacaGaagaacaaaaggccacctat	20	6	8	7	0	0	4	0	1	0	3	0	5	0	5	2	2	3	0	2	2	9	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:124800144G>T	ENST00000358776.4	+	4	480	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Nonsense_Mutation_p.E54*	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	156					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	ACATGGAACAGAAGAACAAAA	0.368													14	135					2.23348e-06	2.54155e-06	1	0	T	124800144	G	T	124800144	4	4	84	1	0	0	0	0	0	1	0	0	115	943	33	2	480	2	ACADSB	10	124800144	Nonsense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	3979346	124800144	10734603	61	16261											
OR5L2	26338	broad.mit.edu	37	chr11	55594746	55594746	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcattctccttggactaTcagatgtccctgagttgaga	9	14	9	9	0	3	3	2	2	1	2	5	5	4	4	2	1	0	2	2	1	1	5			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr11:55594746T>C	ENST00000378397.1	+	1	52	c.52T>C	c.(52-54)Tca>Cca	p.S18P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCTTGGACTATCAGATGTCCC	0.453										HNSCC(27;0.073)			17	393					0	0	0	0	C	55594746	T	C	55594746	3	2	84	1	0	0	0	0	1	0	0	0	11242	1435	50	5	54	5	OR5L2	11	55594746	Missense_Mutation	SNP	T	TCGA-CN-5365-01A-01D-1434-08		55594746	79411770	62	16262											
OR5T3	390154	broad.mit.edu	37	chr11	56020106	56020106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaactacagaatgttttcTcttggctgcaatggcttatg	9	15	10	7	0	1	1	0	0	1	1	2	2	1	2	0	3	3	4	0	3	5	5			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr11:56020106T>C	ENST00000303059.3	+	1	431	c.431T>C	c.(430-432)cTc>cCc	p.L144P		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L144P(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GAATGTTTTCTCTTGGCTGCA	0.403													115	226					0	0	0	0	C	56020106	T	C	56020106	3	2	84	1	0	0	0	0	1	0	0	0	11254	1551	54	5	433	5	OR5T3	11	56020106	Missense_Mutation	SNP	T	TCGA-CN-5365-01A-01D-1434-08	425360	56020106	78986410	63	16263											
ANKRD42	338699	broad.mit.edu	37	chr11	82935940	82935940	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caccttcactgtttcaaattCctagtcagtagaatgagcag	12	12	7	10	0	3	2	3	1	0	1	4	2	4	2	2	0	1	3	2	0	4	5			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr11:82935940C>G	ENST00000260047.6	+	6	1422	c.627C>G	c.(625-627)ttC>ttG	p.F209L	ANKRD42_ENST00000393392.2_Missense_Mutation_p.F182L|ANKRD42_ENST00000533342.1_Missense_Mutation_p.F210L|ANKRD42_ENST00000531895.1_Missense_Mutation_p.F210L			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	182										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GTTTCAAATTCCTAGTCAGTA	0.343													3	138					0	0	0	0	G	82935940	C	G	82935940	3	3	84	1	0	0	0	0	1	0	0	0	669	854	30	2	568	2	ANKRD42	11	82935940	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	26915834	82935940	52070576	64	16264											
A2ML1	144568	broad.mit.edu	37	chr12	9021749	9021749	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcttctccagcaacccctgGtgaagaaggttgaatttgga	11	10	11	9	0	1	3	0	2	1	1	2	4	1	4	3	3	3	3	3	3	4	3			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr12:9021749G>C	ENST00000299698.7	+	33	4351	c.4171G>C	c.(4171-4173)Gtg>Ctg	p.V1391L	A2ML1_ENST00000539547.1_Missense_Mutation_p.V900L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1235						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GCAACCCCTGGTGAAGAAGGT	0.443													13	238					0	0	0	0	C	9021749	G	C	9021749	3	2	84	1	0	0	0	0	1	0	0	0	5	1261	44	4	4301	4	A2ML1	12	9021749	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08		9021749	124830146	65	16265											
ACACB	32	broad.mit.edu	37	chr12	109698310	109698323	+	Frame_Shift_Del	DEL	TGGAGCCTACATCG	TGGAGCCTACATCG	-																															tatgaccaggtgctgaagttTggagcctacatcgtggacgg																								rs142275188		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr12:109698310_109698323delTGGAGCCTACATCG	ENST00000338432.7	+	48	6641_6654	c.6522_6535delTGGAGCCTACATCG	c.(6520-6537)tttgfs	p.FGAYIV2174fs	ACACB_ENST00000377848.3_Frame_Shift_Del_p.FGAYIV2174fs|ACACB_ENST00000377854.5_Frame_Shift_Del_p.FGAYIV2104fs|ACACB_ENST00000543201.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2174	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGCTGAAGTTTGGAGCCTACATCGTGGACGGCCT	0.542													31	185	---	---	---	---					-	109698323	TGGAGCCTACATCG	-	109698310	7	5	84	1	0	1	0	1	0	0	0	0	107	1809	63	0	6708	0	ACACB	12	109698310	Frame_Shift_Del	DEL	TGGAGCCTACATCG	TCGA-CN-5365-01A-01D-1434-08	100676561	109698310	24153585	66	16266											
PXN	5829	broad.mit.edu	37	chr12	120651735	120651735	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagccgccacacttgggTgcgaacatgtcgaagtagtc	9	7	13	12	4	0	0	0	0	0	0	2	2	0	0	2	1	3	2	2	1	3	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr12:120651735T>C	ENST00000397506.3	-	8	1908	c.855A>G	c.(853-855)gcA>gcG	p.A285A	PXN_ENST00000228307.7_Silent_p.A473A|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Silent_p.A471A|PXN_ENST00000267257.7_Silent_p.A487A|PXN_ENST00000458477.2_Silent_p.A306A|PXN_ENST00000424649.2_Silent_p.A439A			P49023	PAXI_HUMAN	paxillin	473					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	p.A439A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACACTTGGGTGCGAACATGT	0.602													3	10					0	0	0	0	C	120651735	T	C	120651735	2	2	84	1	0	0	0	0	0	0	0	1	12934	1683	59	5		5	PXN	12	120651735	Silent	SNP	T	TCGA-CN-5365-01A-01D-1434-08	10953425	120651735	13200160	67	16267											
GPR12	2835	broad.mit.edu	37	chr13	27333678	27333678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaacaaaattggtgatgagtCcaatgccggccagcaggtct	13	8	11	9	1	1	2	0	2	1	0	2	2	2	2	3	3	3	1	3	3	4	1			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr13:27333678C>T	ENST00000405846.3	-	2	508	c.287G>A	c.(286-288)gGa>gAa	p.G96E	GPR12_ENST00000381436.2_Missense_Mutation_p.G96E	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	96						integral to plasma membrane		p.G96E(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGTGATGAGTCCAATGCCGGC	0.547													39	75					0	0	0	0	T	27333678	C	T	27333678	3	4	84	1	0	0	0	0	1	0	0	0	6684	855	30	2	721	2	GPR12	13	27333678	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08		27333678	87836200	68	16268											
PCDH9	5101	broad.mit.edu	37	chr13	67802500	67802500	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaatagtgtaaataagttCttgagctattgcggaatcca	13	14	8	6	1	2	1	0	1	2	0	3	2	3	2	1	1	2	3	1	1	7	8			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr13:67802500C>A	ENST00000544246.1	-	2	764	c.73G>T	c.(73-75)Gaa>Taa	p.E25*	PCDH9_ENST00000456367.1_Nonsense_Mutation_p.E25*|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.E25*|PCDH9_ENST00000377865.2_Nonsense_Mutation_p.E25*|PCDH9_ENST00000377861.3_Nonsense_Mutation_p.E25*	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	25					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E25*(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAAATAAGTTCTTGAGCTATT	0.408													39	72					4.46736e-08	5.12776e-08	1	0	A	67802500	C	A	67802500	4	1	84	1	0	0	0	0	0	1	0	0	11589	922	32	2	3656	2	PCDH9	13	67802500	Nonsense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	40468822	67802500	47367378	69	16269											
TNFSF13B	10673	broad.mit.edu	37	chr13	108922758	108922758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaataagcgtgccgttcaggGtccagaagaaacaggtatgt	14	8	12	7	2	1	2	1	0	0	2	2	2	2	2	2	2	3	2	2	2	5	3			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr13:108922758G>T	ENST00000375887.4	+	2	588	c.410G>T	c.(409-411)gGt>gTt	p.G137V	TNFSF13B_ENST00000542136.1_Missense_Mutation_p.G137V|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.G137V|TNFSF13B_ENST00000479435.1_3'UTR	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	137					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	p.G137V(1)		large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			GCCGTTCAGGGTCCAGAAGAA	0.463													18	64					1.33834e-09	1.56337e-09	1	0	T	108922758	G	T	108922758	3	4	84	1	0	0	0	0	1	0	0	0	16400	1261	44	4	416	4	TNFSF13B	13	108922758	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	41120258	108922758	6247120	70	16270											
NYNRIN	57523	broad.mit.edu	37	chr14	24884881	24884881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacctgtccacgttcgtctGcatccacatgtcgggctact	6	12	9	14	3	1	1	0	1	1	0	5	1	3	1	3	1	2	3	3	1	1	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:24884881G>A	ENST00000382554.3	+	9	4244	c.3926G>A	c.(3925-3927)tGc>tAc	p.C1309Y		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1309					DNA integration	integral to membrane	DNA binding	p.C1309Y(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACGTTCGTCTGCATCCACATG	0.617													129	147					0	0	0	0	A	24884881	G	A	24884881	3	1	84	1	0	0	0	0	1	0	0	0	10867	1319	46	4	3956	4	NYNRIN	14	24884881	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08		24884881	82464659	71	16271											
LRFN5	145581	broad.mit.edu	37	chr14	42357171	42357171	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggaatacgtatgtttcAaatccagtacaatggtactt	12	13	7	9	1	1	0	1	0	0	0	2	1	2	1	2	2	3	4	2	2	7	6			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:42357171A>C	ENST00000554171.1	+	5	3775	c.1343A>C	c.(1342-1344)cAa>cCa	p.Q448P	LRFN5_ENST00000554120.1_Missense_Mutation_p.Q448P|LRFN5_ENST00000298119.4_Missense_Mutation_p.Q448P			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	448	Fibronectin type-III.					integral to membrane		p.Q448P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CGTATGTTTCAAATCCAGTAC	0.323										HNSCC(30;0.082)			27	36					0	0	0	0	C	42357171	A	C	42357171	3	2	84	1	0	0	0	0	1	0	0	0	9005	130	5	5	1345	5	LRFN5	14	42357171	Missense_Mutation	SNP	A	TCGA-CN-5365-01A-01D-1434-08	17472290	42357171	64992369	72	16272											
SIX6	4990	broad.mit.edu	37	chr14	60976178	60976178	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggggtatgtgagacccTggaagagagcggcgatgtgg	8	6	20	7	3	0	2	0	1	0	2	0	6	0	3	2	6	1	1	2	6	2	1			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:60976178T>C	ENST00000327720.5	+	1	510	c.62T>C	c.(61-63)cTg>cCg	p.L21P		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	21					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		TGTGAGACCCTGGAAGAGAGC	0.662													10	107					0	0	0	0	C	60976178	T	C	60976178	3	2	84	1	0	0	0	0	1	0	0	0	14439	1580	55	5	64	5	SIX6	14	60976178	Missense_Mutation	SNP	T	TCGA-CN-5365-01A-01D-1434-08	18619007	60976178	46373362	73	16273											
AKAP5	9495	broad.mit.edu	37	chr14	64935861	64935861	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accccagcaagcaagcccacTtgaaacttcagaaacagacc	16	4	6	15	0	1	3	1	1	0	2	1	3	1	3	4	0	5	2	4	0	4	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:64935861T>A	ENST00000320636.5	+	1	2037	c.749T>A	c.(748-750)cTt>cAt	p.L250H	AKAP5_ENST00000394718.3_Missense_Mutation_p.L250H|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron			P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	250					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		GCAAGCCCACTTGAAACTTCA	0.418													135	93					0	0	0	0	A	64935861	T	A	64935861	3	1	84	1	0	0	0	0	1	0	0	0	454	1609	56	5	751	5	AKAP5	14	64935861	Missense_Mutation	SNP	T	TCGA-CN-5365-01A-01D-1434-08	3959683	64935861	42413679	74	16274											
AHNAK2	113146	broad.mit.edu	37	chr14	105412488	105412488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagacacctccacgtcGggggccgtcacgtccgtctt	5	8	13	15	5	2	1	1	1	1	1	5	2	4	1	4	3	0	1	4	3	0	1			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:105412488G>A	ENST00000333244.5	-	7	9419	c.9300C>T	c.(9298-9300)ccC>ccT	p.P3100P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3100						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCACGTCGGGGGCCGTCA	0.632													9	292					0	0	0	0	A	105412488	G	A	105412488	2	1	84	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105412488	Silent	SNP	G	TCGA-CN-5365-01A-01D-1434-08	40476627	105412488	1937052	75	16275											
RASGRP1	10125	broad.mit.edu	37	chr15	38786881	38786881	+	Frame_Shift_Del	DEL	C	C	-																															aaatcttctgtgaggacactCccatcagcatgatggtccga																										TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:38786881delC	ENST00000310803.5	-	16	2138	c.1961delG	c.(1960-1962)gafs	p.G654fs	RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000450598.2_Frame_Shift_Del_p.G619fs|RASGRP1_ENST00000561180.1_Frame_Shift_Del_p.G705fs|RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000539159.1_Frame_Shift_Del_p.G606fs	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	654					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	p.G654fs*11(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGAGGACACTCCCATCAGCAT	0.527													27	19	---	---	---	---					-	38786881	C	-	38786881	7	5	84	1	0	1	0	1	0	0	0	0	13156	855	30	0	440	0	RASGRP1	15	38786881	Frame_Shift_Del	DEL	C	TCGA-CN-5365-01A-01D-1434-08		38786881	63744511	76	16276											
TRIM69	140691	broad.mit.edu	37	chr15	45047248	45047248	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggttccgagacccactgAtgctaagctgtggccacaac	10	9	10	12	1	0	2	0	1	0	1	1	3	1	2	3	2	3	3	3	2	2	3			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:45047248A>G	ENST00000559390.1	+	3	1085	c.157A>G	c.(157-159)Atg>Gtg	p.M53V	TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.M53V|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000560442.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	53	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AGACCCACTGATGCTAAGCTG	0.458													18	151					0	0	0	0	G	45047248	A	G	45047248	3	3	84	1	0	0	0	0	1	0	0	0	16637	333	12	5	163	5	TRIM69	15	45047248	Missense_Mutation	SNP	A	TCGA-CN-5365-01A-01D-1434-08	6260367	45047248	57484144	77	16277											
SEMA6D	80031	broad.mit.edu	37	chr15	48062786	48062786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgctgcttttgttttggggGcattcattgcaggtgtggca	4	17	14	6	0	1	0	1	0	0	0	1	0	1	0	0	4	3	6	0	4	0	7			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:48062786G>A	ENST00000316364.5	+	19	2465	c.2026G>A	c.(2026-2028)Gca>Aca	p.A676T	SEMA6D_ENST00000536845.2_Missense_Mutation_p.A676T|SEMA6D_ENST00000389428.3_Missense_Mutation_p.A601T|SEMA6D_ENST00000389432.2_Missense_Mutation_p.A633T|SEMA6D_ENST00000537942.1_Missense_Mutation_p.A614T|SEMA6D_ENST00000558014.1_Missense_Mutation_p.A614T|SEMA6D_ENST00000358066.4_Missense_Mutation_p.A614T|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.A620T|SEMA6D_ENST00000389433.2_Missense_Mutation_p.A657T|SEMA6D_ENST00000558816.1_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	676					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTTTTGGGGGCATTCATTGC	0.468													5	211					0	0	0	0	A	48062786	G	A	48062786	3	1	84	1	0	0	0	0	1	0	0	0	14129	1203	42	4	2139	4	SEMA6D	15	48062786	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	3015538	48062786	54468606	78	16278											
CDR2	1039	broad.mit.edu	37	chr16	22361124	22361124	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttcataaacctttgcaTgttgttcgttcatctgccgt	7	18	7	9	2	3	0	2	0	1	0	4	0	3	0	2	0	3	5	2	0	2	7			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr16:22361124T>A	ENST00000268383.2	-	3	546	c.239A>T	c.(238-240)cAt>cTt	p.H80L		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	80						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		AACCTTTGCATGTTGTTCGTT	0.428													63	148					0	0	0	0	A	22361124	T	A	22361124	3	1	84	1	0	0	0	0	1	0	0	0	3201	1464	51	5	1137	5	CDR2	16	22361124	Missense_Mutation	SNP	T	TCGA-CN-5365-01A-01D-1434-08		22361124	67993629	79	16279											
VPS35	55737	broad.mit.edu	37	chr16	46717472	46717472	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagcctgtatggcttcaTccaagagcttttcctgctca	8	13	7	13	0	3	1	3	0	0	1	5	1	5	1	3	1	3	4	3	1	2	4			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr16:46717472T>C	ENST00000299138.7	-	2	108	c.50A>G	c.(49-51)gAt>gGt	p.D17G		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	17					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TATGGCTTCATCCAAGAGCTT	0.458													20	78					0	0	0	0	C	46717472	T	C	46717472	3	2	84	1	0	0	0	0	1	0	0	0	17299	1435	50	5	2404	5	VPS35	16	46717472	Missense_Mutation	SNP	T	TCGA-CN-5365-01A-01D-1434-08	24356348	46717472	43637281	80	16280											
RBL2	5934	broad.mit.edu	37	chr16	53515593	53515593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaacagatggatgctcCtccactctctccctatccat	9	14	4	14	0	1	1	0	0	1	1	6	2	5	2	4	1	2	1	4	1	3	3			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr16:53515593C>T	ENST00000262133.6	+	21	3232	c.3095C>T	c.(3094-3096)cCt>cTt	p.P1032L	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1032					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATGGATGCTCCTCCACTCTCT	0.333													4	37					0	0	0	0	T	53515593	C	T	53515593	3	4	84	1	0	0	0	0	1	0	0	0	13192	681	24	4	3177	4	RBL2	16	53515593	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	6798121	53515593	36839160	81	16281											
CRK	1398	broad.mit.edu	37	chr17	1340132	1340132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtctatacttctcgaCgtaagggactggaatcatcc	10	10	11	10	2	3	0	1	0	2	0	5	3	4	2	1	4	1	2	1	4	4	4			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:1340132C>T	ENST00000300574.2	-	2	699	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Missense_Mutation_p.V187I	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	187	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		TACTTCTCGACGTAAGGGACT	0.577													25	128					0	0	0	0	T	1340132	C	T	1340132	3	4	84	1	0	0	0	0	1	0	0	0	3914	536	19	1	363	1	CRK	17	1340132	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08		1340132	79855078	82	16282											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:7578271T>A	ENST00000420246.2	-	6	710	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			44	30					0	0	0	0	A	7578271	T	A	7578271	3	1	84	1	0	0	0	0	1	0	0	0	16476	1464	51	5	716	5	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-CN-5365-01A-01D-1434-08	6238139	7578271	73616939	83	16283											
SLFN5	162394	broad.mit.edu	37	chr17	33592377	33592377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagagtggtccgcaatgcaGgtccaatagctaattaccta	13	9	9	10	1	0	1	0	0	0	1	2	1	2	1	3	2	3	3	3	2	6	4			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:33592377G>T	ENST00000299977.4	+	5	2294	c.2146G>T	c.(2146-2148)Ggt>Tgt	p.G716C	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	716					cell differentiation		ATP binding	p.G716C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CCGCAATGCAGGTCCAATAGC	0.507													34	91					2.08457e-15	2.45681e-15	1	0	T	33592377	G	T	33592377	3	4	84	1	0	0	0	0	1	0	0	0	14825	1000	35	4	2160	4	SLFN5	17	33592377	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	26014106	33592377	47602833	84	16284											
SLFN11	91607	broad.mit.edu	37	chr17	33679727	33679727	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtcattatttgctccAcagtcaagtatttcttaatt	11	16	5	9	0	3	0	2	0	1	0	4	0	4	0	1	1	1	2	1	1	4	6			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:33679727A>G	ENST00000394566.1	-	7	2626	c.2354T>C	c.(2353-2355)gTg>gCg	p.V785A	SLFN11_ENST00000308377.4_Missense_Mutation_p.V785A	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	785						nucleus	ATP binding	p.V785A(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TATTTGCTCCACAGTCAAGTA	0.488													13	46					0	0	0	0	G	33679727	A	G	33679727	3	3	84	1	0	0	0	0	1	0	0	0	14821	159	6	5	355	5	SLFN11	17	33679727	Missense_Mutation	SNP	A	TCGA-CN-5365-01A-01D-1434-08	87350	33679727	47515483	85	16285											
C17orf98	388381	broad.mit.edu	37	chr17	36997562	36997562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctagagcgcccataagcGcgggcagcggtgctcacagc	8	4	15	14	4	1	1	1	0	0	1	1	1	1	1	2	3	5	2	2	3	2	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:36997562G>A	ENST00000398575.4	-	1	146	c.81C>T	c.(79-81)cgC>cgT	p.R27R		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	27								p.R27R(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						GCCCATAAGCGCGGGCAGCGG	0.637													4	85					0	0	0	0	A	36997562	G	A	36997562	2	1	84	1	0	0	0	0	0	0	0	1	1910	1074	38	1		1	C17orf98	17	36997562	Silent	SNP	G	TCGA-CN-5365-01A-01D-1434-08	3317835	36997562	44197648	86	16286											
IKZF3	22806	broad.mit.edu	37	chr17	37922445	37922445	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccactattgttgggagagagGcctctctcagaaggcacgct	9	9	12	11	1	2	2	1	0	1	2	3	4	2	3	2	3	0	3	2	3	2	3			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:37922445G>A	ENST00000346872.3	-	8	1189	c.1128C>T	c.(1126-1128)ggC>ggT	p.G376G	IKZF3_ENST00000583368.1_Silent_p.G129G|IKZF3_ENST00000377958.2_Silent_p.G289G|IKZF3_ENST00000346243.3_Silent_p.G298G|IKZF3_ENST00000535189.1_Silent_p.G342G|IKZF3_ENST00000351680.3_Silent_p.G337G|IKZF3_ENST00000439016.2_Silent_p.G281G|IKZF3_ENST00000394189.2_Silent_p.G194G|IKZF3_ENST00000350532.3_Silent_p.G337G|IKZF3_ENST00000467757.1_Silent_p.G320G|IKZF3_ENST00000377944.3_Silent_p.G233G|IKZF3_ENST00000439167.2_Silent_p.G303G|IKZF3_ENST00000377945.3_Silent_p.G242G|IKZF3_ENST00000377952.2_Silent_p.G155G	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	376					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G376G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGGAGAGAGGCCTCTCTCAG	0.532													15	199					0	0	0	0	A	37922445	G	A	37922445	2	1	84	1	0	0	0	0	0	0	0	1	7669	1190	42	4		4	IKZF3	17	37922445	Silent	SNP	G	TCGA-CN-5365-01A-01D-1434-08	924883	37922445	43272765	87	16287											
SUPT4H1	6827	broad.mit.edu	37	chr17	56429452	56429452	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagcgaacacagcaaacaGgcccgcagatgccgcaggtc	13	2	11	15	3	0	1	0	0	0	1	1	2	0	1	3	2	5	3	3	2	2	0			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:56429452G>A	ENST00000225504.3	-	1	111	c.45C>T	c.(43-45)gcC>gcT	p.A15A	BZRAP1-AS1_ENST00000583826.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000583841.1_RNA|SUPT4H1_ENST00000580947.1_Silent_p.A15A|BZRAP1-AS1_ENST00000578025.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1-AS1_ENST00000580022.1_RNA|BZRAP1-AS1_ENST00000579859.1_RNA|BZRAP1-AS1_ENST00000585236.1_RNA|BZRAP1-AS1_ENST00000580515.1_RNA|SUPT4H1_ENST00000577396.1_5'UTR	NM_003168.1	NP_003159.1	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1 (S. cerevisiae)	15	Interaction with SUPT5H.				chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|skin(2)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACAGCAAACAGGCCCGCAGAT	0.632													15	78					0	0	0	0	A	56429452	G	A	56429452	2	1	84	1	0	0	0	0	0	0	0	1	15488	987	35	4		4	SUPT4H1	17	56429452	Silent	SNP	G	TCGA-CN-5365-01A-01D-1434-08	18507007	56429452	24765758	88	16288											
TLK2	11011	broad.mit.edu	37	chr17	60657496	60657496	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatcatccaacgctaaaTgacagatatttgttgttaca	16	12	6	7	1	1	3	1	1	0	2	2	3	2	3	1	0	2	3	1	0	6	5			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:60657496T>C	ENST00000582809.1	+	16	1567	c.864T>C	c.(862-864)aaT>aaC	p.N288N	TLK2_ENST00000542523.1_Silent_p.N405N|TLK2_ENST00000346027.5_Silent_p.N437N|TLK2_ENST00000343388.7_Silent_p.N405N|TLK2_ENST00000326270.9_Silent_p.N459N			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	459					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.N459N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CAACGCTAAATGACAGATATT	0.383													16	63					0	0	0	0	C	60657496	T	C	60657496	2	2	84	1	0	0	0	0	0	0	0	1	16038	1461	51	5		5	TLK2	17	60657496	Silent	SNP	T	TCGA-CN-5365-01A-01D-1434-08	4228044	60657496	20537714	89	16289											
RAB37	326624	broad.mit.edu	37	chr17	72741163	72741163	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagtacggtgttccctTcctggagaccagcgccaaga	9	7	13	12	2	0	2	0	0	0	2	2	4	2	3	4	3	2	3	4	3	2	3			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:72741163T>C	ENST00000340415.3	+	8	1494	c.485T>C	c.(484-486)tTc>tCc	p.F162S	RAB37_ENST00000402449.4_Missense_Mutation_p.F162S|RAB37_ENST00000392613.5_Missense_Mutation_p.F169S|RAB37_ENST00000392615.5_Missense_Mutation_p.F137S|RAB37_ENST00000392612.3_Missense_Mutation_p.F132S|RAB37_ENST00000528438.1_Missense_Mutation_p.F142S|RAB37_ENST00000392614.4_Missense_Mutation_p.F174S|RAB37_ENST00000392610.1_Missense_Mutation_p.F169S	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	169					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGTGTTCCCTTCCTGGAGACC	0.627											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	72					0	0	0	0	C	72741163	T	C	72741163	3	2	84	1	0	0	0	0	1	0	0	0	13009	1783	62	5	839	5	RAB37	17	72741163	Missense_Mutation	SNP	T	TCGA-CN-5365-01A-01D-1434-08	12083667	72741163	8454047	90	16290											
TJP3	27134	broad.mit.edu	37	chr19	3738943	3738943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgactccttctacatccGcactcactttgagctggagc	7	11	10	13	1	2	2	1	2	1	0	4	3	4	3	2	2	3	2	2	2	1	3			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:3738943G>A	ENST00000541714.2	+	13	1904	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	TJP3_ENST00000382008.3_Missense_Mutation_p.R495H|TJP3_ENST00000262968.9_Missense_Mutation_p.R514H|TJP3_ENST00000589378.1_Missense_Mutation_p.R490H|TJP3_ENST00000539908.2_Missense_Mutation_p.R445H|TJP3_ENST00000587686.1_Missense_Mutation_p.R500H	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	495						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTACATCCGCACTCACTTT	0.647													4	97					0	0	0	0	A	3738943	G	A	3738943	3	1	84	1	0	0	0	0	1	0	0	0	16025	1087	38	1	1587	1	TJP3	19	3738943	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08		3738943	55390040	91	16291											
MUC16	94025	broad.mit.edu	37	chr19	9060492	9060492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgttatctcagaggaaGcaggtatggttgtagaaaca	12	13	11	5	0	2	2	1	0	2	2	3	3	2	3	0	3	2	5	0	3	5	6			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:9060492G>A	ENST00000397910.4	-	3	27157	c.26954C>T	c.(26953-26955)gCt>gTt	p.A8985V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8987	Ser-rich.|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						CTCAGAGGAAGCAGGTATGGT	0.498													29	183					0	0	0	0	A	9060492	G	A	9060492	3	1	84	1	0	0	0	0	1	0	0	0	10043	971	34	4	16897	4	MUC16	19	9060492	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	5321549	9060492	50068491	92	16292											
SLC6A16	28968	broad.mit.edu	37	chr19	49813001	49813001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgtagactggtgacccGccatcctcgattctgtctga	8	11	10	12	2	2	4	0	2	2	2	4	5	3	4	3	1	0	1	3	1	1	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:49813001G>A	ENST00000454748.3	-	5	984	c.783C>T	c.(781-783)ggC>ggT	p.G261G	SLC6A16_ENST00000335875.4_Silent_p.G261G			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	261						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CTGGTGACCCGCCATCCTCGA	0.537													4	63					0	0	0	0	A	49813001	G	A	49813001	2	1	84	1	0	0	0	0	0	0	0	1	14767	1074	38	1		1	SLC6A16	19	49813001	Silent	SNP	G	TCGA-CN-5365-01A-01D-1434-08	40752509	49813001	9315982	93	16293											
SIGLEC5	8778	broad.mit.edu	37	chr19	52129338	52129338	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccattttctctggtctccCagctgcttgcttcctgcggg	3	15	9	14	1	2	0	0	0	2	0	6	0	4	0	3	2	4	3	3	2	0	4			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:52129338C>G	ENST00000222107.4	-	8	1549	c.1411G>C	c.(1411-1413)Ggg>Cgg	p.G471R	SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G471R|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G471R|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G471R|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.G471R			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	471					cell adhesion	integral to membrane	sugar binding	p.G471R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCTGGTCTCCCAGCTGCTTGC	0.547													11	120					0	0	0	0	G	52129338	C	G	52129338	3	3	84	1	0	0	0	0	1	0	0	0	14399	594	21	4	252	4	SIGLEC5	19	52129338	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	2316337	52129338	6999645	94	16294											
ZNF845	91664	broad.mit.edu	37	chr19	53854664	53854664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcgaaacaatataaatgtGatgtgtgtggcaaggtcttt	13	12	12	4	1	1	1	0	1	1	0	1	3	1	1	0	2	2	1	0	2	6	3			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:53854664G>A	ENST00000458035.1	+	4	853	c.736G>A	c.(736-738)Gat>Aat	p.D246N	ZNF845_ENST00000595091.1_Missense_Mutation_p.D246N	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATATAAATGTGATGTGTGTGG	0.368													8	75					0	0	0	0	A	53854664	G	A	53854664	3	1	84	1	0	0	0	0	1	0	0	0	18284	1290	45	2	746	2	ZNF845	19	53854664	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	1725326	53854664	5274319	95	16295											
TMC4	147798	broad.mit.edu	37	chr19	54667422	54667422	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgaccgcccccaccctTcatcattcccagccatcccc	6	8	3	24	1	3	1	2	1	1	0	5	1	5	1	9	0	1	0	9	0	0	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:54667422T>C	ENST00000416963.1	-	1	3	c.4A>G	c.(4-6)Aag>Gag	p.K2E	TMC4_ENST00000301187.4_Intron|TMC4_ENST00000376591.4_Intron			Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	0						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCCCACCCTTCATCATTCCC	0.552											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	112					0	0	0	0	C	54667422	T	C	54667422	3	2	84	1	0	0	0	0	1	0	0	0	16081	1798	62	5		5	TMC4	19	54667422	Missense_Mutation	SNP	T	TCGA-CN-5365-01A-01D-1434-08	812758	54667422	4461561	96	16296											
NLRP8	126205	broad.mit.edu	37	chr19	56466469	56466469	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaagcccttgctgaaatgtCcctctctcgtaacccttccg	7	11	7	16	2	1	1	0	1	1	0	5	1	3	1	4	0	3	3	4	0	3	3			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:56466469C>A	ENST00000291971.3	+	3	1116	c.1045C>A	c.(1045-1047)Ccc>Acc	p.P349T	NLRP8_ENST00000590542.1_Missense_Mutation_p.P349T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	349	NACHT.					cytoplasm	ATP binding	p.P349T(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCTGAAATGTCCCTCTCTCGT	0.453													13	168					0.000219431	0.000233588	1	0	A	56466469	C	A	56466469	3	1	84	1	0	0	0	0	1	0	0	0	10553	855	30	2	1055	2	NLRP8	19	56466469	Missense_Mutation	SNP	C	TCGA-CN-5365-01A-01D-1434-08	1799047	56466469	2662514	97	16297											
ZNF135	7694	broad.mit.edu	37	chr19	58579671	58579671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acactggggaaaagccctatGagtgtcacgattgcggaaag	13	7	13	8	2	1	1	1	1	0	0	1	4	1	3	1	3	2	0	1	3	4	2			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:58579671G>C	ENST00000506786.1	+	5	2247	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	ZNF135_ENST00000439855.2_Missense_Mutation_p.E607Q|ZNF135_ENST00000511556.1_Missense_Mutation_p.E619Q|ZNF135_ENST00000401053.4_Missense_Mutation_p.E631Q|ZNF135_ENST00000313434.5_Missense_Mutation_p.E607Q|ZNF135_ENST00000359978.6_Intron			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	619					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AAAGCCCTATGAGTGTCACGA	0.557													5	167					0	0	0	0	C	58579671	G	C	58579671	3	2	84	1	0	0	0	0	1	0	0	0	17820	1291	45	2	2022	2	ZNF135	19	58579671	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	2113202	58579671	549312	98	16298											
PTPRT	11122	broad.mit.edu	37	chr20	40743873	40743873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcgtatgacgtattctGccaggggctctgtttcaatc	7	13	12	9	2	3	1	1	1	2	0	4	1	3	1	1	3	2	4	1	3	3	4			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr20:40743873G>T	ENST00000373198.3	-	23	3366	c.3131C>A	c.(3130-3132)gCa>gAa	p.A1044E	PTPRT_ENST00000373187.1_Missense_Mutation_p.A1022E|PTPRT_ENST00000373190.1_Missense_Mutation_p.A1021E|PTPRT_ENST00000373193.3_Missense_Mutation_p.A1025E|PTPRT_ENST00000373201.1_Missense_Mutation_p.A1012E|PTPRT_ENST00000356100.2_Missense_Mutation_p.A1031E|PTPRT_ENST00000373184.1_Missense_Mutation_p.A1032E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1022	Tyrosine-protein phosphatase 1.				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	p.A1044E(1)		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)				GACGTATTCTGCCAGGGGCTC	0.522													30	143					4.23469e-30	5.08163e-30	1	0	T	40743873	G	T	40743873	3	4	84	1	0	0	0	0	1	0	0	0	12894	1319	46	4	1300	4	PTPRT	20	40743873	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08		40743873	22281647	99	16299											
SAMD10	140700	broad.mit.edu	37	chr20	62608688	62608706	+	Frame_Shift_Del	DEL	AGTGGCAGGGGATGCTCTC	AGTGGCAGGGGATGCTCTC	-																															ggtgccaggtgtccgaggcaAgtggcaggggatgctctcag																										TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr20:62608688_62608706delAGTGGCAGGGGATGCTCTC	ENST00000369886.3	-	2	319_337	c.145_163delGAGAGCATCCCCTGCCACT	c.(145-165)tgfs	p.ESIPCHL49fs	SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	49										kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GTCCGAGGCAAGTGGCAGGGGATGCTCTCAGCTGACACC	0.658													18	97	---	---	---	---					-	62608706	AGTGGCAGGGGATGCTCTC	-	62608688	7	5	84	1	0	1	0	1	0	0	0	0	13900	69	3	0	461	0	SAMD10	20	62608688	Frame_Shift_Del	DEL	AGTGGCAGGGGATGCTCTC	TCGA-CN-5365-01A-01D-1434-08	21864815	62608688	416832	100	16300											
BAGE2	85319	broad.mit.edu	37	chr21	11085955	11085957	+	RNA	DEL	CAT	CAT	-																															accatcaccaccaccaccacCatcaacaccacactgcactg																								rs75434111	by1000genomes	TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr21:11085955_11085957delCAT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccaccatcaacaccacA	0.502													5	5	---	---	---	---					-	11085957	CAT	-	11085955	6	5	84	0	1	1	0	1	0	0	0	0	1296	609	21	0		0	BAGE2	21	11085955	RNA	DEL	CAT	TCGA-CN-5365-01A-01D-1434-08		11085955	37043940	101	16301											
NF2	4771	broad.mit.edu	37	chr22	30057317	30057318	+	Frame_Shift_Ins	INS	-	-	GT																															aatccgaaacatctcgtacaINSgtgacaaggaggtaggacat																										TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr22:30057317_30057318insGT	ENST00000338641.4	+	8	1240_1241	c.799_800insGT	c.(799-801)tgafs	p.*267fs	NF2_ENST00000361166.4_Frame_Shift_Ins_p.*267fs|NF2_ENST00000361676.4_Frame_Shift_Ins_p.*225fs|NF2_ENST00000361452.4_Frame_Shift_Ins_p.*226fs|NF2_ENST00000334961.7_Frame_Shift_Ins_p.*184fs|NF2_ENST00000397789.3_Frame_Shift_Ins_p.*267fs|NF2_ENST00000353887.4_Frame_Shift_Ins_p.*184fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Frame_Shift_Ins_p.*267fs|NF2_ENST00000347330.5_Frame_Shift_Ins_p.*108fs|NF2_ENST00000403999.3_Frame_Shift_Ins_p.*267fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	267	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.N226_E270del(1)|p.D268fs*29(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CATCTCGTACAGTGACAAGGAG	0.554			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				86	77	---	---	---	---					GT	30057318	-	GT	30057317	7	5	84	1	0	1	1	0	0	0	0	0	10427	188	7	0	829	0	NF2	22	30057317	Frame_Shift_Ins	INS	-	TCGA-CN-5365-01A-01D-1434-08		30057317	21247249	102	16302											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38483189	38483190	+	In_Frame_Ins	INS	-	-	GGTCATGGA																															ggggacatggaggtcatggaINSggtcatgggggtcacggggg																								rs71803583		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr22:38483189_38483190insGGTCATGGA	ENST00000381669.3	-	11	1344_1345	c.1200_1201insTCCATGACC	c.(1198-1203)acccat>acTCCATGACCccat	p.400_401TH>TP*PH		NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	400					filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					gaggtcatggaggtcatggggg	0.658													7	37	---	---	---	---					GGTCATGGA	38483190	-	GGTCATGGA	38483189	7	5	84	1	0	1	1	0	0	0	0	0	1307	304	11	0	404	0	BAIAP2L2	22	38483189	In_Frame_Ins	INS	-	TCGA-CN-5365-01A-01D-1434-08	8425872	38483189	12821377	103	16303											
FAM47C	442444	broad.mit.edu	37	chrX	37029320	37029320	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcatggtacctcaagcctaAgttggggaaaaagctaagaa	16	7	11	7	0	1	1	1	0	0	1	1	2	1	2	2	3	4	4	2	3	7	4			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chrX:37029320A>T	ENST00000358047.3	+	1	2889	c.2837A>T	c.(2836-2838)aAg>aTg	p.K946M		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	946								p.K946M(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTCAAGCCTAAGTTGGGGAAA	0.453													49	50					0	0	0	0	T	37029320	A	T	37029320	3	4	84	1	0	0	0	0	1	0	0	0	5618	72	3	5	2839	5	FAM47C	23	37029320	Missense_Mutation	SNP	A	TCGA-CN-5365-01A-01D-1434-08		37029320	118241240	104	16304											
SYP	6855	broad.mit.edu	37	chrX	49049871	49049871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagccccttggcccatgccGatgagctaactagccacatg	10	7	9	15	1	0	1	0	1	0	0	0	2	0	1	5	1	5	1	5	1	2	3			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chrX:49049871G>A	ENST00000263233.4	-	5	545	c.473C>T	c.(472-474)tCg>tTg	p.S158L	SYP_ENST00000479808.1_Missense_Mutation_p.S158L|SYP_ENST00000538567.1_Missense_Mutation_p.S40L	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	158	MARVEL.		S -> L.		regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GGCCCATGCCGATGAGCTAAC	0.562													11	10					0	0	0	0	A	49049871	G	A	49049871	3	1	84	1	0	0	0	0	1	0	0	0	15552	1059	37	1	476	1	SYP	23	49049871	Missense_Mutation	SNP	G	TCGA-CN-5365-01A-01D-1434-08	12020551	49049871	106220689	105	16305											
KIAA2013	90231	broad.mit.edu	37	chr1	11985515	11985515	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggcggccaccaccaccagGtgcaccaacccagtgggcgt	8	5	12	16	2	0	0	0	0	0	0	0	0	0	0	6	4	2	1	6	4	1	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:11985515G>A	ENST00000376572.3	-	1	965	c.780C>T	c.(778-780)caC>caT	p.H260H	KIAA2013_ENST00000376576.3_Silent_p.H260H	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	260						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCACCAGGTGCACCAACC	0.647													10	41					0	0	0	0	A	11985515	G	A	11985515	2	1	85	1	0	0	0	0	0	0	0	1	8318	1252	44	4		4	KIAA2013	1	11985515	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08		11985515	237265106	1	16306											
LDLRAD2	401944	broad.mit.edu	37	chr1	22141157	22141157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctacctgcagttctacgagGgcccgccgggggcgccccgg	4	5	15	17	5	1	0	0	0	1	0	1	1	1	0	6	4	3	2	6	4	2	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:22141157G>A	ENST00000344642.2	+	2	539	c.352G>A	c.(352-354)Ggc>Agc	p.G118S	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.G118S	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	118						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GTTCTACGAgggcccgccggg	0.751													4	16					0	0	0	0	A	22141157	G	A	22141157	3	1	85	1	0	0	0	0	1	0	0	0	8759	1232	43	4	358	4	LDLRAD2	1	22141157	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	10155642	22141157	227109464	2	16307											
MFSD2A	84879	broad.mit.edu	37	chr1	40434298	40434298	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacgtgtcaagtttacactGaacatgctcgtgaccatggc	11	10	10	10	2	1	2	1	2	0	0	2	3	1	2	1	1	4	2	1	1	4	2			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:40434298G>A	ENST00000372809.5	+	13	1592	c.1449G>A	c.(1447-1449)ctG>ctA	p.L483L	MFSD2A_ENST00000420632.2_Silent_p.L314L|MFSD2A_ENST00000372811.5_Silent_p.L470L|MFSD2A_ENST00000480630.1_3'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	483					transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.L470L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGTTTACACTGAACATGCTCG	0.567													46	161					0	0	0	0	A	40434298	G	A	40434298	2	1	85	1	0	0	0	0	0	0	0	1	9599	1277	45	2		2	MFSD2A	1	40434298	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08	18293141	40434298	208816323	3	16308											
PIGK	10026	broad.mit.edu	37	chr1	77588033	77588033	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtttctcatccatctggTcttccttatagctggaaaag	9	16	7	9	0	3	0	1	0	3	0	6	1	5	1	2	2	1	2	2	2	5	5			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:77588033T>C	ENST00000370812.3	-	10	1021	c.998A>G	c.(997-999)gAc>gGc	p.D333G	PIGK_ENST00000370813.5_Missense_Mutation_p.D257G|PIGK_ENST00000445065.1_Missense_Mutation_p.D239G	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	333					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	p.D333G(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						ATCCATCTGGTCTTCCTTATA	0.299													23	86					0	0	0	0	C	77588033	T	C	77588033	3	2	85	1	0	0	0	0	1	0	0	0	11962	1667	58	5	197	5	PIGK	1	77588033	Missense_Mutation	SNP	T	TCGA-CN-5366-01A-01D-1434-08	37153735	77588033	171662588	4	16309											
GTF2B	2959	broad.mit.edu	37	chr1	89325684	89325684	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacttgcttgaataaattaTttgttcgatccttcaaagca	13	16	5	7	1	1	1	1	1	0	0	3	2	2	1	1	0	3	3	1	0	6	8			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:89325684T>C	ENST00000370500.5	-	5	534	c.416A>G	c.(415-417)aAt>aGt	p.N139S	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	139					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding	p.N139S(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		GAATAAATTATTTGTTCGATC	0.343													26	184					0	0	0	0	C	89325684	T	C	89325684	3	2	85	1	0	0	0	0	1	0	0	0	6905	1493	52	5	546	5	GTF2B	1	89325684	Missense_Mutation	SNP	T	TCGA-CN-5366-01A-01D-1434-08	11737651	89325684	159924937	5	16310											
BCAR3	8412	broad.mit.edu	37	chr1	94033309	94033310	+	Frame_Shift_Ins	INS	-	-	CA																															tgctcacctctgccttcatgINScaggagtttgctgaagggct																										TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:94033309_94033310insCA	ENST00000370244.1	-	12	2361_2362	c.2073_2074insTG	c.(2071-2076)ctatgafs	p.*692fs	BCAR3_ENST00000260502.6_Frame_Shift_Ins_p.*692fs|BCAR3_ENST00000539242.1_Frame_Shift_Ins_p.*368fs|BCAR3_ENST00000370247.3_Frame_Shift_Ins_p.*601fs|BCAR3_ENST00000370243.1_Frame_Shift_Ins_p.*692fs	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	692	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTGCCTTCATGCAGGAGTTTGC	0.535													27	84	---	---	---	---					CA	94033310	-	CA	94033309	7	5	85	1	0	1	1	0	0	0	0	0	1353	1319	46	0	415	0	BCAR3	1	94033309	Frame_Shift_Ins	INS	-	TCGA-CN-5366-01A-01D-1434-08	4707625	94033309	155217312	6	16311											
SLC6A17	388662	broad.mit.edu	37	chr1	110709633	110709633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccgacctgctggccctcGaggagcctgtggactataag	7	8	14	12	2	0	0	0	0	0	0	1	4	0	2	4	4	2	1	4	4	2	2	rs142242142		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:110709633G>A	ENST00000331565.4	+	2	567	c.82G>A	c.(82-84)Gag>Aag	p.E28K	RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	28					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.E28K(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCTGGCCCTCGAGGAGCCTGT	0.617													6	22					0	0	0	0	A	110709633	G	A	110709633	3	1	85	1	0	0	0	0	1	0	0	0	14768	1059	37	1	84	1	SLC6A17	1	110709633	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	16676324	110709633	138540988	7	16312											
SYT6	148281	broad.mit.edu	37	chr1	114680442	114680442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaaaagccttcaggataCgcacaatcagggtctcggtc	11	8	11	11	2	4	0	3	0	1	0	6	1	4	1	1	4	2	1	1	4	4	2	rs139165674	byFrequency	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:114680442C>T	ENST00000393296.1	-	3	823	c.746G>A	c.(745-747)cGt>cAt	p.R249H	SYT6_ENST00000369547.1_Missense_Mutation_p.R164H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	249	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.R164H(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCAGGATACGCACAATCAG	0.542													14	123					0	0	0	0	T	114680442	C	T	114680442	3	4	85	1	0	0	0	0	1	0	0	0	15569	536	19	1	806	1	SYT6	1	114680442	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	3970809	114680442	134570179	8	16313											
BCL9	607	broad.mit.edu	37	chr1	147096054	147096054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttcagcagatgcagcacTttgcaagcctggaggccccg	10	7	12	12	1	1	1	1	0	0	1	1	2	1	2	3	2	5	5	3	2	2	2			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:147096054T>C	ENST00000234739.3	+	10	4315	c.3575T>C	c.(3574-3576)cTt>cCt	p.L1192P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1192	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GATGCAGCACTTTGCAAGCCT	0.627			T	"IGH@, IGL@"	B-ALL								9	112					0	0	0	0	C	147096054	T	C	147096054	3	2	85	1	0	0	0	0	1	0	0	0	1385	1609	56	5	3601	5	BCL9	1	147096054	Missense_Mutation	SNP	T	TCGA-CN-5366-01A-01D-1434-08	32415612	147096054	102154567	9	16314											
ATP8B2	57198	broad.mit.edu	37	chr1	154303598	154303598	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcctcaccatcacagcTgttaaagatgccactgatga	11	11	7	12	0	2	3	2	2	0	1	3	3	3	3	3	0	2	2	3	0	2	2			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:154303598T>A	ENST00000368489.3	+	5	378	c.378T>A	c.(376-378)gcT>gcA	p.A126A	ATP8B2_ENST00000341822.2_Silent_p.A112A|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Silent_p.A93A	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	112					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.A126A(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCATCACAGCTGTTAAAGATG	0.493													32	93					0	0	0	0	A	154303598	T	A	154303598	2	1	85	1	0	0	0	0	0	0	0	1	1199	1567	55	5		5	ATP8B2	1	154303598	Silent	SNP	T	TCGA-CN-5366-01A-01D-1434-08	7207544	154303598	94947023	10	16315											
DNM3	26052	broad.mit.edu	37	chr1	171956930	171956930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatacccattaatttacgaGtctattccccacacggtaag	12	11	5	13	2	1	0	0	0	1	0	2	1	2	0	4	1	2	1	4	1	5	7			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:171956930G>T	ENST00000358155.4	+	3	546	c.370G>T	c.(370-372)Gtc>Ttc	p.V124F	DNM3_ENST00000367733.2_Missense_Mutation_p.V124F|DNM3_ENST00000520906.1_Missense_Mutation_p.V124F|DNM3_ENST00000355305.5_Missense_Mutation_p.V124F|DNM3_ENST00000367731.1_Missense_Mutation_p.V124F	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	124					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TAATTTACGAGTCTATTCCCC	0.333													14	188					6.31663e-08	6.73159e-08	1	0	T	171956930	G	T	171956930	3	4	85	1	0	0	0	0	1	0	0	0	4709	1029	36	4	380	4	DNM3	1	171956930	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	17653332	171956930	77293691	11	16316											
USH2A	7399	broad.mit.edu	37	chr1	216496972	216496972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatagaagttattgtatccaGgacgataatttggtccaggt	12	14	10	5	1	0	1	0	0	0	1	2	3	2	2	2	3	0	2	2	3	6	7			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:216496972G>A	ENST00000366943.2	-	8	1780	c.1394C>T	c.(1393-1395)cCt>cTt	p.P465L	USH2A_ENST00000366942.3_Missense_Mutation_p.P465L|USH2A_ENST00000307340.3_Missense_Mutation_p.P465L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	465	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P465L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGTATCCAGGACGATAATT	0.378										HNSCC(13;0.011)			16	172					0	0	0	0	A	216496972	G	A	216496972	3	1	85	1	0	0	0	0	1	0	0	0	17132	1000	35	4	14488	4	USH2A	1	216496972	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	44540042	216496972	32753649	12	16317											
TRIM58	25893	broad.mit.edu	37	chr1	248028043	248028043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agaggcagcgcttcagattgGagtttgagaagcatcgtggc	10	9	15	7	2	1	3	1	1	0	3	2	5	1	4	0	3	2	4	0	3	1	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:248028043G>C	ENST00000366481.3	+	3	601	c.553G>C	c.(553-555)Gag>Cag	p.E185Q		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	185						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTTCAGATTGGAGTTTGAGAA	0.602													13	66					0	0	0	0	C	248028043	G	C	248028043	3	2	85	1	0	0	0	0	1	0	0	0	16626	1175	41	2	563	2	TRIM58	1	248028043	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	31531071	248028043	1222578	13	16318											
GREB1	9687	broad.mit.edu	37	chr2	11780421	11780421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgttgtccacgcaggtgcGacgttgtgtgtcatctgtca	5	12	13	11	4	3	0	2	0	1	0	4	1	4	0	2	1	1	3	2	1	0	2			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:11780421G>A	ENST00000381486.2	+	33	5991	c.5691G>A	c.(5689-5691)gcG>gcA	p.A1897A	GREB1_ENST00000234142.5_Silent_p.A1897A|GREB1_ENST00000396123.1_Silent_p.A895A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1897						integral to membrane		p.A1897A(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGCAGGTGCGACGTTGTGTG	0.602													20	58					0	0	0	0	A	11780421	G	A	11780421	2	1	85	1	0	0	0	0	0	0	0	1	6810	1045	37	1		1	GREB1	2	11780421	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08		11780421	231418952	14	16319											
WDR35	57539	broad.mit.edu	37	chr2	20141576	20141576	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaatcctcaaaattacaaaTatatccagaggtctgaatgg	17	11	6	7	0	2	2	1	1	1	1	4	2	4	2	2	2	1	0	2	2	9	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:20141576T>C	ENST00000345530.3	-	18	2018	c.1903A>G	c.(1903-1905)Att>Gtt	p.I635V	WDR35_ENST00000416055.2_Missense_Mutation_p.I200V|WDR35_ENST00000281405.4_Missense_Mutation_p.I624V	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	635										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATTACAAATATATCCAGAG	0.284													4	19					0	0	0	0	C	20141576	T	C	20141576	3	2	85	1	0	0	0	0	1	0	0	0	17385	1406	49	5	1686	5	WDR35	2	20141576	Missense_Mutation	SNP	T	TCGA-CN-5366-01A-01D-1434-08	8361155	20141576	223057797	15	16320											
KCNG3	170850	broad.mit.edu	37	chr2	42671599	42671599	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagagatgtaatacggcgtGattgccagtaaatcaatgat	15	10	10	6	2	1	3	1	2	0	1	1	4	1	3	1	1	2	2	1	1	5	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:42671599G>C	ENST00000306078.1	-	2	1381	c.786C>G	c.(784-786)atC>atG	p.I262M	KCNG3_ENST00000394973.4_Missense_Mutation_p.I251M	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	262						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	p.I262M(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						AATACGGCGTGATTGCCAGTA	0.463													38	107					0	0	0	0	C	42671599	G	C	42671599	3	2	85	1	0	0	0	0	1	0	0	0	8082	1280	45	2	528	2	KCNG3	2	42671599	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	22530023	42671599	200527774	16	16321											
LRP1B	53353	broad.mit.edu	37	chr2	141459289	141459289	+	Splice_Site	DEL	C	C	-																															tattctttcaagagtgctgaCctttctctcttactcggtta																										TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:141459289delC	ENST00000389484.3	-	40	7399		c.e40+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAGTGCTGACCTTTCTCTCT	0.348										TSP Lung(27;0.18)			7	116	---	---	---	---					-	141459289	C	-	141459289	8	5	85	1	0	1	0	1	0	0	1	0	9019	521	18	0	7579	0	LRP1B	2	141459289	Splice_Site	DEL	C	TCGA-CN-5366-01A-01D-1434-08	98787690	141459289	101740084	17	16322											
COBLL1	22837	broad.mit.edu	37	chr2	165551002	165551002	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttttcaaagtcttcagaTtttgtgtggatacctgacta	11	16	8	6	0	3	2	2	1	1	1	3	3	3	3	1	1	1	1	1	1	4	7			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:165551002T>A	ENST00000375458.2	-	11	3121	c.2900A>T	c.(2899-2901)aAt>aTt	p.N967I	COBLL1_ENST00000392717.2_Missense_Mutation_p.N1043I|COBLL1_ENST00000194871.6_Missense_Mutation_p.N1072I|COBLL1_ENST00000409184.3_Missense_Mutation_p.N1005I|COBLL1_ENST00000342193.4_Missense_Mutation_p.N1005I	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1043								p.N1005I(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGTCTTCAGATTTTGTGTGGA	0.478													10	76					0	0	0	0	A	165551002	T	A	165551002	3	1	85	1	0	0	0	0	1	0	0	0	3684	1493	52	5	498	5	COBLL1	2	165551002	Missense_Mutation	SNP	T	TCGA-CN-5366-01A-01D-1434-08	24091713	165551002	77648371	18	16323											
UBR3	130507	broad.mit.edu	37	chr2	170936487	170936487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggtacttttgtatgccTgaaaggactttgctgcaagc	8	14	12	7	0	0	1	0	1	0	0	0	2	0	2	1	2	5	4	1	2	4	5			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:170936487T>C	ENST00000272793.5	+	37	5413	c.5363T>C	c.(5362-5364)cTg>cCg	p.L1788P	UBR3_ENST00000418381.1_Missense_Mutation_p.L1788P|UBR3_ENST00000392631.1_Missense_Mutation_p.L609P			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1788	Cys-rich.				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTTGTATGCCTGAAAGGACTT	0.378													4	221					0	0	0	0	C	170936487	T	C	170936487	3	2	85	1	0	0	0	0	1	0	0	0	16999	1580	55	5	5509	5	UBR3	2	170936487	Missense_Mutation	SNP	T	TCGA-CN-5366-01A-01D-1434-08	5385485	170936487	72262886	19	16324											
KIF9	64147	broad.mit.edu	37	chr3	47286984	47287007	+	Splice_Site	DEL	ACTTCCTGTTCCTGTTGGCTTGGG	ACTTCCTGTTCCTGTTGGCTTGGG	-																															tcctgcgcaaagtggactccActtcctgttcctgttggctt																										TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:47286984_47287007delACTTCCTGTTCCTGTTGGCTTGGG	ENST00000335044.2	-	14	1647_1664	c.1289_splice	c.e14-1	p.R430_splice	KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Splice_Site_p.R337_splice|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Splice_Site_p.R430_splice|KIF9_ENST00000444589.2_Splice_Site_p.R430_splice|KIF9_ENST00000452770.2_Splice_Site_p.R430_splice	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	430					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTGGACTCCACTTCCTGTTCCTGTTGGCTTGGGAGACAGCAAG	0.509													23	129	---	---	---	---					-	47287007	ACTTCCTGTTCCTGTTGGCTTGGG	-	47286984	8	5	85	1	0	1	0	1	0	0	1	0	8361	159	6	0	1097	0	KIF9	3	47286984	Splice_Site	DEL	ACTTCCTGTTCCTGTTGGCTTGGG	TCGA-CN-5366-01A-01D-1434-08		47286984	150735446	20	16325											
PBRM1	55193	broad.mit.edu	37	chr3	52637575	52637576	+	Frame_Shift_Ins	INS	-	-	TTTC																															ttttagtttatcttcctctaINStttcttttggcaatttttcc																										TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:52637575_52637576insTTTC	ENST00000356770.4	-	16	2646_2647	c.2644_2645insGAAA	c.(2644-2646)agafs	p.R882fs	PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.R929fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.R929fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.R914fs|PBRM1_ENST00000296302.7_Frame_Shift_Ins_p.R914fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.R914fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.R914fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.R914fs			Q86U86	PB1_HUMAN	polybromo 1	914					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATCTTCCTCTATTTCTTTTGGC	0.332			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								8	43	---	---	---	---					TTTC	52637576	-	TTTC	52637575	7	5	85	1	0	1	1	0	0	0	0	0	11562	449	16	0	2215	0	PBRM1	3	52637575	Frame_Shift_Ins	INS	-	TCGA-CN-5366-01A-01D-1434-08	5350591	52637575	145384855	21	16326											
PDZRN3	23024	broad.mit.edu	37	chr3	73440206	73440206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtcgtcttcatcgtccGtccggtagcacacagtgagg	8	10	11	12	4	2	1	1	1	1	0	6	1	4	1	2	2	1	2	2	2	2	2			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:73440206G>A	ENST00000263666.4	-	6	1430	c.1316C>T	c.(1315-1317)aCg>aTg	p.T439M	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T161M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T96M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T96M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T156M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	439	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCATCGTCCGTCCGGTAGCA	0.448													30	308					0	0	0	0	A	73440206	G	A	73440206	3	1	85	1	0	0	0	0	1	0	0	0	11780	1145	40	1	1904	1	PDZRN3	3	73440206	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	20802631	73440206	124582224	22	16327											
CHST13	166012	broad.mit.edu	37	chr3	126255198	126255198	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctatgacctggatcaggTaggtggacagaccctcgacc	9	8	12	12	1	2	2	1	1	1	1	3	5	2	4	3	4	0	2	3	4	2	2			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:126255198T>C	ENST00000319340.2	+	2	230		c.e2+2			NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13						chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.?(1)		central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CTGGATCAGGTAGGTGGACAG	0.607													25	90					0	0	0	0	C	126255198	T	C	126255198	5	2	85	1	0	0	0	0	0	0	1	0	3430	1652	57	5	188	5	CHST13	3	126255198	Splice_Site	SNP	T	TCGA-CN-5366-01A-01D-1434-08	52814992	126255198	71767232	23	16328											
SLITRK3	22865	broad.mit.edu	37	chr3	164907436	164907436	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaatgttattaaatcctcGctctttgcagttgacagtca	12	14	7	8	1	2	2	1	1	1	1	4	2	3	2	1	0	1	4	1	0	4	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:164907436G>A	ENST00000475390.1	-	2	1626	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.R395*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	395	LRRNT.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTAAATCCTCGCTCTTTGCAG	0.418										HNSCC(40;0.11)			48	199					0	0	0	0	A	164907436	G	A	164907436	4	1	85	1	0	0	0	0	0	1	0	0	14832	1095	38	1	1754	1	SLITRK3	3	164907436	Nonsense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	38652238	164907436	33114994	24	16329											
PPAT	5471	broad.mit.edu	37	chr4	57269492	57269492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtgtcatcttgttcctgagGaggggtatacgccagtaact	8	12	13	8	1	2	1	1	1	1	0	3	2	3	2	2	4	2	3	2	4	3	5			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:57269492G>A	ENST00000264220.2	-	4	615	c.478C>T	c.(478-480)Cct>Tct	p.P160S	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	160	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	p.P160S(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	TGTTCCTGAGGAGGGGTATAC	0.423													35	131					0	0	0	0	A	57269492	G	A	57269492	3	1	85	1	0	0	0	0	1	0	0	0	12373	1174	41	2	1107	2	PPAT	4	57269492	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08		57269492	133884784	25	16330											
TET2	54790	broad.mit.edu	37	chr4	106156862	106156862	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgaggcatcactgccatCaattcttcagtatcaaccca	13	11	5	12	0	5	1	4	1	1	0	5	1	5	1	2	1	2	2	2	1	4	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:106156862C>A	ENST00000513237.1	+	3	2623	c.1826C>A	c.(1825-1827)tCa>tAa	p.S609*	TET2_ENST00000545826.1_Nonsense_Mutation_p.S588*|TET2_ENST00000380013.4_Nonsense_Mutation_p.S588*|TET2_ENST00000394764.1_Nonsense_Mutation_p.S588*|TET2_ENST00000413648.2_Nonsense_Mutation_p.S588*|TET2_ENST00000540549.1_Nonsense_Mutation_p.S588*|TET2_ENST00000305737.2_Nonsense_Mutation_p.S588*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	588	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S588*(3)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCACTGCCATCAATTCTTCAG	0.468			"Mis N, F"		MDS								31	84					2.81731e-10	3.02447e-10	1	0	A	106156862	C	A	106156862	4	1	85	1	0	0	0	0	0	1	0	0	15864	838	29	2	1765	2	TET2	4	106156862	Nonsense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	48887370	106156862	84997414	26	16331											
NDST4	64579	broad.mit.edu	37	chr4	115997944	115997944	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagagtattggctctccacGaagagaaggacagtagggtc	12	8	14	7	1	1	2	0	1	1	2	3	6	1	3	1	3	0	3	1	3	4	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:115997944G>A	ENST00000264363.2	-	2	927	c.249C>T	c.(247-249)ttC>ttT	p.F83F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	83	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGCTCTCCACGAAGAGAAGGA	0.433													17	129					0	0	0	0	A	115997944	G	A	115997944	2	1	85	1	0	0	0	0	0	0	0	1	10328	1049	37	1		1	NDST4	4	115997944	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08	9841082	115997944	75156332	27	16332											
NDST3	9348	broad.mit.edu	37	chr4	119035975	119035975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaaggaactgaagaggaaGatgaaggagatgactgtctg	16	7	14	4	0	1	6	0	3	1	3	1	9	1	8	0	3	1	0	0	3	6	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:119035975G>A	ENST00000296499.5	+	4	1487	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	362	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.D362N(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TGAAGAGGAAGATGAAGGAGA	0.423													14	87					0	0	0	0	A	119035975	G	A	119035975	3	1	85	1	0	0	0	0	1	0	0	0	10327	942	33	2	1094	2	NDST3	4	119035975	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	3038031	119035975	72118301	28	16333											
FBXW7	55294	broad.mit.edu	37	chr4	153247175	153247175	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctgtaatgaatagactcTattagtatgcccctgcaacg	12	12	7	10	1	1	2	0	1	1	1	1	2	1	2	3	0	4	3	3	0	8	6			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:153247175T>C	ENST00000281708.4	-	10	2856	c.1627A>G	c.(1627-1629)Aga>Gga	p.R543G	FBXW7_ENST00000603841.1_Missense_Mutation_p.R543G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R463G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R367G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R543G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	543					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R543G(2)|p.R463G(1)|p.?(1)|p.R304G(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAATAGACTCTATTAGTATGC	0.408			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								39	152					0	0	0	0	C	153247175	T	C	153247175	3	2	85	1	0	0	0	0	1	0	0	0	5814	1530	53	5	508	5	FBXW7	4	153247175	Missense_Mutation	SNP	T	TCGA-CN-5366-01A-01D-1434-08	34211200	153247175	37907101	29	16334											
FAT1	2195	broad.mit.edu	37	chr4	187541516	187541516	+	Frame_Shift_Del	DEL	T	T	-																															caaacaccggcgcattatcaTtttggtcttctacaatgacc																										TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:187541516delT	ENST00000441802.2	-	10	6433	c.6224delA	c.(6223-6225)atfs	p.N2075fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2075	Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGCATTATCATTTTGGTCTTC	0.498										HNSCC(5;0.00058)			103	212	---	---	---	---					-	187541516	T	-	187541516	7	5	85	1	0	1	0	1	0	0	0	0	5734	1493	52	0	7614	0	FAT1	4	187541516	Frame_Shift_Del	DEL	T	TCGA-CN-5366-01A-01D-1434-08	34294341	187541516	3612760	30	16335											
DNAH5	1767	broad.mit.edu	37	chr5	13883148	13883148	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggaatggccagagtgacGcttgcccggaaaatgggcaa	11	7	15	8	2	0	2	0	1	0	1	0	4	0	4	2	4	1	2	2	4	4	2			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:13883148G>A	ENST00000265104.4	-	20	3143	c.3039C>T	c.(3037-3039)agC>agT	p.S1013S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1013	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1013S(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAGAGTGACGCTTGCCCGGA	0.478									Kartagener syndrome				94	172					0	0	0	0	A	13883148	G	A	13883148	2	1	85	1	0	0	0	0	0	0	0	1	4641	1078	38	1		1	DNAH5	5	13883148	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08		13883148	167032112	31	16336											
FYB	2533	broad.mit.edu	37	chr5	39202059	39202059	+	Missense_Mutation	SNP	C	C	A																															gggtggctgaattcttgtctCccttttccttttcctgactt																										TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:39202059C>A	ENST00000351578.6	-	2	1194	c.1004G>T	c.(1003-1005)gGa>gTa	p.G335V	FYB_ENST00000515010.1_Missense_Mutation_p.G335V|FYB_ENST00000540520.1_Missense_Mutation_p.G345V|FYB_ENST00000505428.1_Missense_Mutation_p.G335V|FYB_ENST00000512982.1_Missense_Mutation_p.G335V	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	335					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATTCTTGTCTCCCTTTTCCTT	0.552													8	95					3.09899e-07	3.27864e-07	1	0	A	39202059	C	A	39202059	3	1	85	1	0	0	0	0	1	0	0	0	6172	855	30	2	1557	2	FYB	5	39202059	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	25318911	39202059	141713201	32	16337	142	2									
FYB	2533	broad.mit.edu	37	chr5	39202060	39202060	+	Missense_Mutation	SNP	C	C	G																															ggtggctgaattcttgtctcCcttttccttttcctgacttt																										TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:39202060C>G	ENST00000351578.6	-	2	1193	c.1003G>C	c.(1003-1005)Gga>Cga	p.G335R	FYB_ENST00000515010.1_Missense_Mutation_p.G335R|FYB_ENST00000540520.1_Missense_Mutation_p.G345R|FYB_ENST00000505428.1_Missense_Mutation_p.G335R|FYB_ENST00000512982.1_Missense_Mutation_p.G335R	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	335					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTCTTGTCTCCCTTTTCCTTT	0.552													9	95					0	0	0	0	G	39202060	C	G	39202060	3	3	85	1	0	0	0	0	1	0	0	0	6172	632	22	4	1558	4	FYB	5	39202060	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	1	39202060	141713200	33	16338	142	2									
C7	730	broad.mit.edu	37	chr5	40958326	40958326	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaccgtacacatttggtgcGgcgtgtgagcaaggagtcct	10	9	13	9	3	0	1	0	1	0	0	1	2	1	2	2	3	4	2	2	3	3	2			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:40958326G>A	ENST00000313164.9	+	11	1811	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	484	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.A484A(1)					Ovarian(839;0.0112)				CATTTGGTGCGGCGTGTGAGC	0.502													17	126					0	0	0	0	A	40958326	G	A	40958326	2	1	85	1	0	0	0	0	0	0	0	1	2398	1103	39	1		1	C7	5	40958326	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08	1756266	40958326	139956934	34	16339											
RASA1	5921	broad.mit.edu	37	chr5	86674262	86674264	+	In_Frame_Del	DEL	GGA	GGA	-																															acacttgcaagcaccttgatGgagcagtatatgaaagccac																										TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:86674262_86674264delGGA	ENST00000456692.2	+	18	1978_1980	c.1863_1865delGGA	c.(1861-1866)atg>at	p.ME621del	RASA1_ENST00000274376.6_In_Frame_Del_p.ME798del|RASA1_ENST00000512763.1_In_Frame_Del_p.ME631del|RASA1_ENST00000506290.1_In_Frame_Del_p.ME632del	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	798	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GCACCTTGATGGAGCAGTATATG	0.369													34	119	---	---	---	---					-	86674264	GGA	-	86674262	7	5	85	1	0	1	0	1	0	0	0	0	13142	1348	47	0	2476	0	RASA1	5	86674262	In_Frame_Del	DEL	GGA	TCGA-CN-5366-01A-01D-1434-08	45715936	86674262	94240998	35	16340											
FTMT	94033	broad.mit.edu	37	chr5	121187858	121187858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgccgccggcccctctcGggtgcgccagaacttccacc	4	5	11	21	5	1	1	0	0	1	1	3	1	2	1	8	2	2	0	8	2	1	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:121187858G>A	ENST00000321339.1	+	1	209	c.200G>A	c.(199-201)cGg>cAg	p.R67Q		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	67					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.R67Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGCCCCTCTCGGGTGCGCCAG	0.711													7	40					0	0	0	0	A	121187858	G	A	121187858	3	1	85	1	0	0	0	0	1	0	0	0	6133	1116	39	1	202	1	FTMT	5	121187858	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	34513596	121187858	59727402	36	16341											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723931	140723931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaaattaacattctggttGaggataaattgaaaattttt	17	16	6	2	0	1	2	0	2	1	0	1	3	1	3	0	2	1	1	0	2	8	8			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:140723931G>A	ENST00000253812.6	+	1	331	c.331G>A	c.(331-333)Gag>Aag	p.E111K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCTGGTTGAGGATAAATT	0.403													17	40					0	0	0	0	A	140723931	G	A	140723931	3	1	85	1	0	0	0	0	1	0	0	0	11626	1291	45	2	333	2	PCDHGA3	5	140723931	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	19536073	140723931	40191329	37	16342											
FAT2	2196	broad.mit.edu	37	chr5	150946563	150946563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaggcatagtttttgccatCtgaggctgtaatcttcaggg	8	14	12	7	0	3	2	1	2	2	0	3	2	3	2	1	3	1	4	1	3	2	5			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:150946563C>T	ENST00000261800.5	-	1	1942	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	644	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.D644N(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTTGCCATCTGAGGCTGTA	0.418													36	115					0	0	0	0	T	150946563	C	T	150946563	3	4	85	1	0	0	0	0	1	0	0	0	5735	913	32	2	11211	2	FAT2	5	150946563	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	10222632	150946563	29968697	38	16343											
MAPK9	5601	broad.mit.edu	37	chr5	179688706	179688706	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaattataccagctgaaTgcagatgtttaataccacaa	16	12	6	7	0	0	3	0	2	0	1	0	3	0	3	2	0	4	3	2	0	8	6			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:179688706T>A	ENST00000452135.2	-	5	726	c.428A>T	c.(427-429)cAt>cTt	p.H143L	MAPK9_ENST00000425491.2_Missense_Mutation_p.H143L|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Missense_Mutation_p.H143L|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000343111.6_Missense_Mutation_p.H143L|MAPK9_ENST00000393360.3_Missense_Mutation_p.H143L|MAPK9_ENST00000455781.1_Missense_Mutation_p.H143L|MAPK9_ENST00000539014.1_Missense_Mutation_p.H143L			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	143	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	p.H143L(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCAGCTGAATGCAGATGTTT	0.308													31	97					0	0	0	0	A	179688706	T	A	179688706	3	1	85	1	0	0	0	0	1	0	0	0	9356	1464	51	5	1000	5	MAPK9	5	179688706	Missense_Mutation	SNP	T	TCGA-CN-5366-01A-01D-1434-08	28742143	179688706	1226554	39	16344											
COL12A1	1303	broad.mit.edu	37	chr6	75829169	75829169	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactcagacttgacctcatcGctgtattgcacaaatgaaac	14	10	6	11	1	2	3	2	2	0	1	3	3	2	3	1	0	3	3	1	0	4	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr6:75829169G>A	ENST00000322507.8	-	45	7416	c.7107C>T	c.(7105-7107)agC>agT	p.S2369S	COL12A1_ENST00000345356.6_Silent_p.S1205S|COL12A1_ENST00000483888.2_Silent_p.S2369S|COL12A1_ENST00000416123.2_Silent_p.S2369S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2369	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.S2369S(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGACCTCATCGCTGTATTGCA	0.433													39	136					0	0	0	0	A	75829169	G	A	75829169	2	1	85	1	0	0	0	0	0	0	0	1	3699	1078	38	1		1	COL12A1	6	75829169	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08		75829169	95285898	40	16345											
TXLNB	167838	broad.mit.edu	37	chr6	139563752	139563752	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctctgctgctgctcGtgggggctgcctactgggct	2	11	14	14	1	1	0	0	0	1	0	3	0	2	0	2	3	6	6	2	3	1	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr6:139563752G>A	ENST00000358430.3	-	10	2198	c.1966C>T	c.(1966-1968)Cga>Tga	p.R656*	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	656						cytoplasm		p.R656*(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCTGCTGCTCGTGGGGGCTGC	0.642													47	93					0	0	0	0	A	139563752	G	A	139563752	4	1	85	1	0	0	0	0	0	1	0	0	16884	1153	40	1	92	1	TXLNB	6	139563752	Nonsense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	63734583	139563752	31551315	41	16346											
THBS2	7058	broad.mit.edu	37	chr6	169632834	169632834	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatcggggcgggcagggcagGcagtggaagccaggctgagt	8	5	20	8	2	0	1	0	1	0	0	1	2	0	2	1	7	1	4	1	7	2	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr6:169632834G>A	ENST00000366787.3	-	13	2106	c.1857C>T	c.(1855-1857)tgC>tgT	p.C619C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	619	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.C619C(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGCAGGGCAGGCAGTGGAAGC	0.637													12	45					0	0	0	0	A	169632834	G	A	169632834	2	1	85	1	0	0	0	0	0	0	0	1	15948	1195	42	4		4	THBS2	6	169632834	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08	30069082	169632834	1482233	42	16347											
RBAK	57786	broad.mit.edu	37	chr7	5105050	5105050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaccctatgaatgtaatGaatgtgggaaagtcttttct	14	13	9	5	0	2	3	0	2	2	1	2	4	2	4	1	1	1	1	1	1	6	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:5105050G>A	ENST00000396912.1	+	5	2482	c.1963G>A	c.(1963-1965)Gaa>Aaa	p.E655K	RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.E655K|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	655	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E655K(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TGAATGTAATGAATGTGGGAA	0.398													44	191					0	0	0	0	A	5105050	G	A	5105050	3	1	85	1	0	0	0	0	1	0	0	0	13182	1291	45	2	1977	2	RBAK	7	5105050	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08		5105050	154033613	43	16348											
HDAC9	9734	broad.mit.edu	37	chr7	18767227	18767227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggaacccacgcacacaCgtgcgctctctgtgcgccaa	8	7	9	17	4	1	0	0	0	1	0	3	1	2	1	3	1	3	2	3	1	2	0			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:18767227C>T	ENST00000406451.3	+	13	1897	c.1747C>T	c.(1747-1749)Cgt>Tgt	p.R583C	HDAC9_ENST00000441542.2_Missense_Mutation_p.R586C|HDAC9_ENST00000432645.2_Missense_Mutation_p.R583C|HDAC9_ENST00000401921.1_Missense_Mutation_p.R542C	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	583					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CACGCACACACGTGCGCTCTC	0.547													9	17					0	0	0	0	T	18767227	C	T	18767227	3	4	85	1	0	0	0	0	1	0	0	0	7064	536	19	1	1853	1	HDAC9	7	18767227	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	13662177	18767227	140371436	44	16349											
COL1A2	1278	broad.mit.edu	37	chr7	94052391	94052391	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagttggtccccctggcttCgctggtgagaagggtccctc	4	10	14	13	1	0	1	0	1	0	1	4	2	2	1	3	4	0	4	3	4	1	2	rs41317725		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:94052391C>T	ENST00000297268.6	+	40	2997	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	842			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.F842F(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCCTGGCTTCGCTGGTGAGA	0.532										HNSCC(75;0.22)			33	175					0	0	0	0	T	94052391	C	T	94052391	2	4	85	1	0	0	0	0	0	0	0	1	3708	883	31	1		1	COL1A2	7	94052391	Silent	SNP	C	TCGA-CN-5366-01A-01D-1434-08	75285164	94052391	65086272	45	16350											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558424	113558424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaacagaagtttcataacGtatacaaaactcaactttac	18	10	3	10	1	2	1	2	0	0	1	2	1	2	1	1	0	6	2	1	0	9	6	rs141223649	byFrequency	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:113558424G>A	ENST00000284601.3	-	1	696	c.628C>T	c.(628-630)Cgt>Tgt	p.R210C		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	210	CBM21.				glycogen metabolic process	integral to membrane		p.R210C(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTTTCATAACGTATACAAAAC	0.348													26	140					0	0	0	0	A	113558424	G	A	113558424	3	1	85	1	0	0	0	0	1	0	0	0	12447	1145	40	1	2756	1	PPP1R3A	7	113558424	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	19506033	113558424	45580239	46	16351											
PTPRZ1	5803	broad.mit.edu	37	chr7	121676716	121676716	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggcaaactgactgattatAtcaatgccaattatgttgat	14	14	7	6	0	1	3	1	3	0	0	1	3	1	3	1	1	2	2	1	1	6	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:121676716A>G	ENST00000393386.2	+	18	5758	c.5347A>G	c.(5347-5349)Atc>Gtc	p.I1783V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I916V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1783	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.I1783V(1)|p.N1783D(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GACTGATTATATCAATGCCAA	0.303													23	65					0	0	0	0	G	121676716	A	G	121676716	3	3	85	1	0	0	0	0	1	0	0	0	12896	449	16	5	5417	5	PTPRZ1	7	121676716	Missense_Mutation	SNP	A	TCGA-CN-5366-01A-01D-1434-08	8118292	121676716	37461947	47	16352											
GRM8	2918	broad.mit.edu	37	chr7	126410117	126410117	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccgagcaattcgctccaGccctgcaaaataaaaaagta	16	7	6	12	2	0	0	0	0	0	0	3	1	2	0	3	0	3	4	3	0	7	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:126410117G>A	ENST00000339582.2	-	7	1967	c.1159C>T	c.(1159-1161)Ctg>Ttg	p.L387L	GRM8_ENST00000444921.2_Silent_p.L387L|GRM8_ENST00000405249.1_Silent_p.L387L|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.L387L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	387					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.L387M(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATTCGCTCCAGCCCTGCAAAA	0.378										HNSCC(24;0.065)			19	39					0	0	0	0	A	126410117	G	A	126410117	2	1	85	1	0	0	0	0	0	0	0	1	6853	962	34	4		4	GRM8	7	126410117	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08	4733401	126410117	32728546	48	16353											
ESYT2	57488	broad.mit.edu	37	chr7	158560437	158560437	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccagatagtttgatattaTatccaaaatgatagtatctg	15	14	6	6	0	1	3	0	2	1	1	2	3	2	3	2	0	0	2	2	0	8	7			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:158560437T>C	ENST00000251527.5	-	8	1041	c.976A>G	c.(976-978)Ata>Gta	p.I326V		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	354						integral to membrane|plasma membrane		p.I326V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TTTGATATTATATCCAAAATG	0.408													11	78					0	0	0	0	C	158560437	T	C	158560437	3	2	85	1	0	0	0	0	1	0	0	0	5303	1406	49	5	1765	5	ESYT2	7	158560437	Missense_Mutation	SNP	T	TCGA-CN-5366-01A-01D-1434-08	32150320	158560437	578226	49	16354											
HR	55806	broad.mit.edu	37	chr8	21976686	21976686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgaggacctacctttctgtgCccggtgccaggcaggcagtg	6	8	14	13	2	1	0	0	0	1	0	1	2	1	1	4	4	3	2	4	4	1	2			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:21976686C>T	ENST00000381418.4	-	15	4568	c.3088G>A	c.(3088-3090)Gca>Aca	p.A1030T	HR_ENST00000312841.8_Missense_Mutation_p.A1030T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1030	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTTCTGTGCCCGGTGCCAG	0.652													3	64					0	0	0	0	T	21976686	C	T	21976686	3	4	85	1	0	0	0	0	1	0	0	0	7397	739	26	4	501	4	HR	8	21976686	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08		21976686	124387336	50	16355											
ADAM18	8749	broad.mit.edu	37	chr8	39496009	39496009	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaaacatcctaaatatgtgGgagcaacatttcctggcact	13	10	9	9	0	0	0	0	0	0	0	2	2	2	2	2	3	3	2	2	3	5	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:39496009G>T	ENST00000265707.5	+	10	898	c.853G>T	c.(853-855)Gga>Tga	p.G285*	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Nonsense_Mutation_p.G261*	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	285	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TAAATATGTGGGAGCAACATT	0.289													3	58					0.150653	0.151692	1	0	T	39496009	G	T	39496009	4	4	85	1	0	0	0	0	0	1	0	0	239	1233	43	4	891	4	ADAM18	8	39496009	Nonsense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	17519323	39496009	106868013	51	16356											
C8orf34	116328	broad.mit.edu	37	chr8	69621297	69621297	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actccattctccagatgaaaAaatcccagattcattcggta	14	11	5	11	1	2	3	1	1	1	2	6	3	4	3	3	1	0	1	3	1	4	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:69621297A>T	ENST00000337103.4	+	8	2569	c.977A>T	c.(976-978)aAa>aTa	p.K326I	C8orf34_ENST00000518698.1_Missense_Mutation_p.K437I|C8orf34_ENST00000539993.1_Missense_Mutation_p.K351I|C8orf34_ENST00000325233.3_Missense_Mutation_p.K95I			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	351					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCAGATGAAAAAATCCCAGAT	0.328													28	64					0	0	0	0	T	69621297	A	T	69621297	3	4	85	1	0	0	0	0	1	0	0	0	2446	14	1	5	1007	5	C8orf34	8	69621297	Missense_Mutation	SNP	A	TCGA-CN-5366-01A-01D-1434-08	30125288	69621297	76742725	52	16357											
ZFHX4	79776	broad.mit.edu	37	chr8	77616422	77616422	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgataatgaggtgccagaGaaagttgcagggatggagcc	12	8	15	6	0	0	3	0	2	0	1	0	6	0	5	2	3	3	2	2	3	2	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:77616422G>C	ENST00000521891.2	+	2	547	c.99G>C	c.(97-99)gaG>gaC	p.E33D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E33D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E33D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E33D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	33						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGTGCCAGAGAAAGTTGCAG	0.502										HNSCC(33;0.089)			16	70					0	0	0	0	C	77616422	G	C	77616422	3	2	85	1	0	0	0	0	1	0	0	0	17730	933	33	2	101	2	ZFHX4	8	77616422	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	7995125	77616422	68747600	53	16358											
C8orf31	286122	broad.mit.edu	37	chr8	144130635	144130635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcattgcaggattctctcGgcaccacgggaaccaccttc	8	10	9	14	2	2	0	1	0	1	0	5	2	2	2	3	3	2	2	3	3	1	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:144130635G>A	ENST00000395172.1	+	5	717	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	122										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ggattctctcggcaccacggg	0.512													19	130					0	0	0	0	A	144130635	G	A	144130635	3	1	85	1	0	0	0	0	1	0	0	0	2444	1116	39	1	379	1	C8orf31	8	144130635	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	66514213	144130635	2233387	54	16359											
EPPK1	83481	broad.mit.edu	37	chr8	144940258	144940258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggttctcgtgcgtgttgggGtcgaagaagcccttggtgtc	5	12	16	8	3	1	1	0	0	1	1	4	2	1	1	1	4	2	2	1	4	2	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:144940258G>A	ENST00000525985.1	-	2	7235	c.7164C>T	c.(7162-7164)gaC>gaT	p.D2388D				P58107	EPIPL_HUMAN	epiplakin 1	2388						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGTGTTGGGGTCGAAGAAGC	0.632													19	527					0	0	0	0	A	144940258	G	A	144940258	2	1	85	1	0	0	0	0	0	0	0	1	5228	1252	44	4		4	EPPK1	8	144940258	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08	809623	144940258	1423764	55	16360											
HAUS6	54801	broad.mit.edu	37	chr9	19058811	19058811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttctcttcagtcaaatGagactggccaaaatctgata	14	12	6	9	0	4	2	2	2	2	1	5	3	4	2	1	1	1	0	1	1	5	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr9:19058811G>T	ENST00000380502.3	-	16	2421	c.1954C>A	c.(1954-1956)Cat>Aat	p.H652N	HAUS6_ENST00000380496.1_Missense_Mutation_p.H516N	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	652					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCAGTCAAATGAGACTGGCCA	0.398													47	113					4.01344e-20	4.47299e-20	1	0	T	19058811	G	T	19058811	3	4	85	1	0	0	0	0	1	0	0	0	7020	1290	45	2	921	2	HAUS6	9	19058811	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08		19058811	122154620	56	16361											
TLR4	7099	broad.mit.edu	37	chr9	120466838	120466838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagctgggagccctgcGtggaggtatgtggctggagt	8	8	18	7	1	0	1	0	0	0	1	0	4	0	4	1	5	3	3	1	5	2	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr9:120466838G>A	ENST00000355622.6	+	1	189	c.88G>A	c.(88-90)Gtg>Atg	p.V30M	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_5'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	30					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.V30M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GGAGCCCTGCGTGGAGGTATG	0.542													21	38					0	0	0	0	A	120466838	G	A	120466838	3	1	85	1	0	0	0	0	1	0	0	0	16047	1145	40	1	90	1	TLR4	9	120466838	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	101408027	120466838	20746593	57	16362											
ANK3	288	broad.mit.edu	37	chr10	61840373	61840373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtcgtctatctgttttctCaatctgaaaaggaaaaaaaa	15	13	6	7	1	4	1	1	1	4	0	6	2	4	2	0	1	0	1	0	1	8	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr10:61840373C>G	ENST00000280772.1	-	36	4545	c.4354G>C	c.(4354-4356)Gag>Cag	p.E1452Q	ANK3_ENST00000503366.1_Missense_Mutation_p.E1444Q|ANK3_ENST00000355288.2_Missense_Mutation_p.E577Q|ANK3_ENST00000373827.2_Missense_Mutation_p.E1437Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1452					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGTTTTCTCAATCTGAAAA	0.383													7	30					0	0	0	0	G	61840373	C	G	61840373	3	3	85	1	0	0	0	0	1	0	0	0	622	835	29	2	9124	2	ANK3	10	61840373	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08		61840373	73694374	58	16363											
LRRTM3	347731	broad.mit.edu	37	chr10	68688015	68688015	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcatggaagcggtaccctgcGagcatgaagcagctgcagca	11	6	13	11	2	1	1	1	1	0	0	1	3	1	2	1	2	8	6	1	2	3	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr10:68688015G>C	ENST00000361320.4	+	2	1919	c.1341G>C	c.(1339-1341)gcG>gcC	p.A447A	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	447						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GGTACCCTGCGAGCATGAAGC	0.522													17	113					0	0	0	0	C	68688015	G	C	68688015	2	2	85	1	0	0	0	0	0	0	0	1	9105	1045	37	3		3	LRRTM3	10	68688015	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08	6847642	68688015	66846732	59	16364											
HPS1	3257	broad.mit.edu	37	chr10	100202886	100202886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaccctgcactcacctcttCttcctcattctctgactgcc	5	14	3	19	0	5	1	2	1	3	0	7	1	6	1	4	0	3	1	4	0	1	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr10:100202886C>T	ENST00000325103.6	-	3	345	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	HPS1_ENST00000338546.5_Missense_Mutation_p.E38K|HPS1_ENST00000361490.4_Missense_Mutation_p.E38K|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	38	Poly-Glu.				lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	p.E38K(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CTCACCTCTTCTTCCTCATTC	0.557									Hermansky-Pudlak syndrome				53	193					0	0	0	0	T	100202886	C	T	100202886	3	4	85	1	0	0	0	0	1	0	0	0	7389	922	32	2	2100	2	HPS1	10	100202886	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	31514871	100202886	35331861	60	16365											
C10orf137	26098	broad.mit.edu	37	chr10	127412503	127412503	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactctttatgagatcgtctCaggtaatgcttttgtgaaaa	12	15	8	6	1	2	2	1	2	2	1	4	3	2	2	0	1	2	2	0	1	5	5			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr10:127412503C>T	ENST00000337623.3	+	4	613	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	C10orf137_ENST00000356792.4_Nonsense_Mutation_p.Q170*	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.Q170*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAGATCGTCTCAGGTAATGCT	0.398													21	129					0	0	0	0	T	127412503	C	T	127412503	4	4	85	1	0	0	0	0	0	1	0	0	1604	827	29	2	522	2	C10orf137	10	127412503	Nonsense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	27209617	127412503	8122244	61	16366											
OR51F1	256892	broad.mit.edu	37	chr11	4790981	4790981	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacatgggttcatggagaCtctgctgggtaatgatgaca	12	11	12	6	0	2	3	1	2	1	1	2	4	2	3	0	3	2	3	0	3	3	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:4790981C>G	ENST00000380383.1	-	1	187	c.188G>C	c.(187-189)aGt>aCt	p.S63T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.S56T			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	56						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCATGGAGACTCTGCTGGGT	0.453													8	41					0	0	0	0	G	4790981	C	G	4790981	3	3	85	1	0	0	0	0	1	0	0	0	11167	565	20	4	774	4	OR51F1	11	4790981	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08		4790981	130215535	62	16367											
OR52N4	390072	broad.mit.edu	37	chr11	5776889	5776889	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagatacgagactgtgtcAtaaggatcctttcaggttct	12	12	9	8	1	3	2	2	0	1	2	4	4	4	3	1	2	2	1	1	2	3	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:5776889A>T	ENST00000317254.3	+	1	967	c.919A>T	c.(919-921)Ata>Tta	p.I307L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I307L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AGACTGTGTCATAAGGATCCT	0.413													39	93					0	0	0	0	T	5776889	A	T	5776889	3	4	85	1	0	0	0	0	1	0	0	0	11200	217	8	5	921	5	OR52N4	11	5776889	Missense_Mutation	SNP	A	TCGA-CN-5366-01A-01D-1434-08	985908	5776889	129229627	63	16368											
BBOX1	8424	broad.mit.edu	37	chr11	27148982	27148982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcgtatcttaaggcagagGgtggagaatggaaactgaag	13	9	14	5	1	1	3	0	1	1	2	2	5	1	4	0	4	1	2	0	4	5	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:27148982G>T	ENST00000263182.3	+	9	1514	c.1146G>T	c.(1144-1146)agG>agT	p.R382S	BBOX1_ENST00000525090.1_Missense_Mutation_p.R382S|BBOX1_ENST00000529202.1_Missense_Mutation_p.R382S|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.R382S	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	382					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.R382S(1)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TAAGGCAGAGGGTGGAGAATG	0.418													5	113					0.000602214	0.000619178	1	0	T	27148982	G	T	27148982	3	4	85	1	0	0	0	0	1	0	0	0	1338	1223	43	4	1172	4	BBOX1	11	27148982	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	21372093	27148982	107857534	64	16369											
FBXO3	26273	broad.mit.edu	37	chr11	33772131	33772131	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtggatgtacagagctaaGttctggcagaaacgatgtgg	11	9	16	5	1	1	2	0	0	1	2	1	4	1	3	0	4	3	4	0	4	3	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:33772131G>C	ENST00000530401.1	-	8	891	c.871C>G	c.(871-873)Ctt>Gtt	p.L291V	FBXO3_ENST00000448981.2_Missense_Mutation_p.L296V|FBXO3_ENST00000534136.1_Missense_Mutation_p.L296V|FBXO3_ENST00000526785.1_Missense_Mutation_p.L183V|FBXO3_ENST00000265651.3_Missense_Mutation_p.L296V|FBXO3_ENST00000532057.1_5'UTR|FBXO3_ENST00000531080.1_5'UTR			Q9UK99	FBX3_HUMAN	F-box protein 3	296	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ACAGAGCTAAGTTCTGGCAGA	0.388													6	71					0	0	0	0	C	33772131	G	C	33772131	3	2	85	1	0	0	0	0	1	0	0	0	5784	1029	36	4	554	4	FBXO3	11	33772131	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	6623149	33772131	101234385	65	16370											
CATSPER1	117144	broad.mit.edu	37	chr11	65792843	65792843	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagggccgggggcatcGtgaatcaggctccgggatgt	7	6	18	10	3	1	1	1	1	0	0	3	2	2	2	2	5	1	4	2	5	1	0			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:65792843G>A	ENST00000312106.5	-	1	1145	c.1008C>T	c.(1006-1008)caC>caT	p.H336H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	336					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.H336H(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CGGGGGCATCGTGAATCAGGC	0.592													17	106					0	0	0	0	A	65792843	G	A	65792843	2	1	85	1	0	0	0	0	0	0	0	1	2712	1136	40	1		1	CATSPER1	11	65792843	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08	32020712	65792843	69213673	66	16371											
NADSYN1	55191	broad.mit.edu	37	chr11	71185569	71185569	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagttttctctggatgaCgtggtaatgagcgggcctgg	6	12	14	9	2	1	2	0	2	1	0	3	3	2	3	2	4	1	2	2	4	1	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:71185569C>T	ENST00000319023.2	+	9	983	c.795C>T	c.(793-795)gaC>gaT	p.D265D		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	265	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTCTGGATGACGTGGTAATGA	0.597													21	318					0	0	0	0	T	71185569	C	T	71185569	2	4	85	1	0	0	0	0	0	0	0	1	10208	535	19	1		1	NADSYN1	11	71185569	Silent	SNP	C	TCGA-CN-5366-01A-01D-1434-08	5392726	71185569	63820947	67	16372											
UCP3	7352	broad.mit.edu	37	chr11	73717337	73717337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaggggctgcagggaccctCagtccgcaccatggtcagga	8	6	15	12	1	2	0	2	0	0	0	3	2	3	2	3	5	1	4	3	5	1	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:73717337C>G	ENST00000314032.4	-	3	766	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	UCP3_ENST00000348534.4_Missense_Mutation_p.E72Q|UCP3_ENST00000426995.2_Missense_Mutation_p.E72Q	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	72					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	p.E72Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CAGGGACCCTCAGTCCGCACC	0.652													6	20					0	0	0	0	G	73717337	C	G	73717337	3	3	85	1	0	0	0	0	1	0	0	0	17028	835	29	2	748	2	UCP3	11	73717337	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	2531768	73717337	61289179	68	16373											
CD163L1	283316	broad.mit.edu	37	chr12	7527092	7527092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcgtgctgcccccagcCgcgggaagggcactgccaca	7	4	14	16	3	0	0	0	0	0	0	1	1	0	1	4	2	4	3	4	2	1	0	rs149805278		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:7527092C>T	ENST00000313599.3	-	13	3412	c.3355G>A	c.(3355-3357)Ggc>Agc	p.G1119S	CD163L1_ENST00000396630.1_Missense_Mutation_p.G1119S|CD163L1_ENST00000416109.2_Missense_Mutation_p.G1129S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1119	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCCCCCAGCCGCGGGAAGGG	0.617													20	97					0	0	0	0	T	7527092	C	T	7527092	3	4	85	1	0	0	0	0	1	0	0	0	2997	652	23	1	1034	1	CD163L1	12	7527092	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08		7527092	126324803	69	16374											
CASC1	55259	broad.mit.edu	37	chr12	25308247	25308247	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagaaatcagtcctacctGagaaagcaatttagtttcct	15	11	7	8	0	1	2	1	1	0	2	3	4	3	2	3	0	2	2	3	0	6	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:25308247G>A	ENST00000354189.5	-	5	507	c.472C>T	c.(472-474)Cag>Tag	p.Q158*	CASC1_ENST00000395987.3_Nonsense_Mutation_p.Q100*|CASC1_ENST00000395990.2_Nonsense_Mutation_p.Q54*|CASC1_ENST00000537577.1_5'UTR|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000320267.9_Nonsense_Mutation_p.Q94*|CASC1_ENST00000545133.1_Nonsense_Mutation_p.Q35*	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	94										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AGTCCTACCTGAGAAAGCAAT	0.348													16	74					0	0	0	0	A	25308247	G	A	25308247	4	1	85	1	0	0	0	0	0	1	0	0	2685	1299	45	2	1918	2	CASC1	12	25308247	Nonsense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	17781155	25308247	108543648	70	16375											
KRT72	140807	broad.mit.edu	37	chr12	52994829	52994829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttgtcgatgaaggaggcGaacttgttgtttagcgcctt	8	13	12	8	3	0	1	0	1	0	0	1	4	0	2	2	2	2	2	2	2	3	6			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:52994829G>A	ENST00000293745.2	-	1	493	c.408C>T	c.(406-408)ttC>ttT	p.F136F	KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000354310.4_Silent_p.F136F|KRT72_ENST00000537672.2_Silent_p.F136F	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	136	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.F136F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGAAGGAGGCGAACTTGTTGT	0.632													24	101					0	0	0	0	A	52994829	G	A	52994829	2	1	85	1	0	0	0	0	0	0	0	1	8537	1049	37	1		1	KRT72	12	52994829	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08	27686582	52994829	80857066	71	16376											
ITGA5	3678	broad.mit.edu	37	chr12	54795429	54795429	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggaaaccacgtcgcttTgcgagttgttgagattcttg	10	12	12	7	3	1	1	0	1	1	1	2	5	1	2	1	1	2	3	1	1	2	5			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:54795429T>A	ENST00000293379.4	-	23	2588	c.2327A>T	c.(2326-2328)cAa>cTa	p.Q776L	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	776					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.Q776L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CACGTCGCTTTGCGAGTTGTT	0.602													52	172					0	0	0	0	A	54795429	T	A	54795429	3	1	85	1	0	0	0	0	1	0	0	0	7932	1812	63	5	854	5	ITGA5	12	54795429	Missense_Mutation	SNP	T	TCGA-CN-5366-01A-01D-1434-08	1800600	54795429	79056466	72	16377											
NCKAP1L	3071	broad.mit.edu	37	chr12	54930832	54930832	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcacctcaaggaatttCtggtggtgagtgggtctagg	10	11	13	7	0	4	1	2	1	2	0	4	2	4	2	1	5	1	0	1	5	4	2	rs1141061		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:54930832C>A	ENST00000293373.6	+	29	3257	c.3178C>A	c.(3178-3180)Ctg>Atg	p.L1060M	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L1010M	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1060				L -> V (in Ref. 1; AAA35964).	actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CAAGGAATTTCTGGTGGTGAG	0.418													3	62					0.115264	0.116865	1	0	A	54930832	C	A	54930832	3	1	85	1	0	0	0	0	1	0	0	0	10292	912	32	2	3292	2	NCKAP1L	12	54930832	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	135403	54930832	78921063	73	16378											
NACA	4666	broad.mit.edu	37	chr12	57106906	57106906	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgttttcttgaatgtttgaGacagcttcaccttgaacttt	8	18	8	7	0	2	3	1	3	1	1	2	4	2	3	1	0	2	3	1	0	2	7			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:57106906G>C	ENST00000454682.1	-	7	6320	c.6039C>G	c.(6037-6039)gtC>gtG	p.V2013V	NACA_ENST00000552540.1_Silent_p.V150V|NACA_ENST00000356769.3_Silent_p.V150V|NACA_ENST00000548563.1_Silent_p.V71V|NACA_ENST00000393891.4_Silent_p.V150V|NACA_ENST00000546392.1_Silent_p.V150V|NACA_ENST00000550952.1_Silent_p.V860V	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	150					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	p.V150V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAATGTTTGAGACAGCTTCAC	0.403			T	BCL6	NHL								20	118					0	0	0	0	C	57106906	G	C	57106906	2	2	85	1	0	0	0	0	0	0	0	1	10203	929	33	2		2	NACA	12	57106906	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08	2176074	57106906	76744989	74	16379											
ALX1	8092	broad.mit.edu	37	chr12	85680722	85680722	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattttgctgccacctatgAtatatcagttttgccaagga	10	14	7	10	0	1	1	1	1	0	0	1	2	1	2	4	1	3	2	4	1	4	7			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:85680722A>C	ENST00000316824.3	+	3	778	c.623A>C	c.(622-624)gAt>gCt	p.D208A		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	208					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCCACCTATGATATATCAGTT	0.368													37	104					0	0	0	0	C	85680722	A	C	85680722	3	2	85	1	0	0	0	0	1	0	0	0	556	333	12	5	633	5	ALX1	12	85680722	Missense_Mutation	SNP	A	TCGA-CN-5366-01A-01D-1434-08	28573816	85680722	48171173	75	16380											
STAB2	55576	broad.mit.edu	37	chr12	104067694	104067694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctttcagaatgcctgtGcgttcacggaacatgcaata	10	12	8	11	2	3	1	2	0	1	1	4	2	4	2	2	1	4	2	2	1	4	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:104067694G>A	ENST00000388887.2	+	23	2585	c.2381G>A	c.(2380-2382)tGc>tAc	p.C794Y		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	794					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAATGCCTGTGCGTTCACGGA	0.587													7	57					0	0	0	0	A	104067694	G	A	104067694	3	1	85	1	0	0	0	0	1	0	0	0	15328	1319	46	4	2471	4	STAB2	12	104067694	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	18386972	104067694	29784201	76	16381											
BRCA2	675	broad.mit.edu	37	chr13	32950826	32950826	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaacacaacaaaaccataTttaccatcacgtgcactaac	19	7	3	12	1	1	0	1	0	0	0	1	1	1	0	2	0	6	1	2	0	8	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr13:32950826T>A	ENST00000544455.1	+	21	8879	c.8652T>A	c.(8650-8652)taT>taA	p.Y2884*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.Y2884*	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2884					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.Y2884*(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAAAACCATATTTACCATCAC	0.368			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			17	69					0	0	0	0	A	32950826	T	A	32950826	4	1	85	1	0	0	0	0	0	1	0	0	1507	1500	52	5	8730	5	BRCA2	13	32950826	Nonsense_Mutation	SNP	T	TCGA-CN-5366-01A-01D-1434-08		32950826	82219052	77	16382											
TFDP1	7027	broad.mit.edu	37	chr13	114285981	114285981	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcaaacaccctggTggtaggaagcccacacaccc	11	4	11	15	1	1	0	1	0	0	0	1	1	1	1	3	4	3	2	3	4	3	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr13:114285981T>C	ENST00000375370.5	+	5	442	c.230T>C	c.(229-231)gTg>gCg	p.V77A	TFDP1_ENST00000538138.1_Intron|TFDP1_ENST00000544902.1_Intron|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	77					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.V77A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			AACACCCTGGTGGTAGGAAGC	0.592										TSP Lung(29;0.18)			23	79					0	0	0	0	C	114285981	T	C	114285981	3	2	85	1	0	0	0	0	1	0	0	0	15891	1696	59	5	244	5	TFDP1	13	114285981	Missense_Mutation	SNP	T	TCGA-CN-5366-01A-01D-1434-08	81335155	114285981	883897	78	16383											
NIN	51199	broad.mit.edu	37	chr14	51228570	51228570	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgttgttctttcatctgttCaatgaccagctctgcctcaa	8	16	6	11	0	6	1	3	1	3	0	6	1	6	1	2	0	2	4	2	0	2	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr14:51228570C>G	ENST00000245441.5	-	16	2024	c.1834G>C	c.(1834-1836)Gaa>Caa	p.E612Q	NIN_ENST00000453196.1_Missense_Mutation_p.E612Q|NIN_ENST00000389868.3_Missense_Mutation_p.E612Q|NIN_ENST00000382041.3_Missense_Mutation_p.E612Q|NIN_ENST00000382043.4_Missense_Mutation_p.E612Q|NIN_ENST00000324330.9_Missense_Mutation_p.E612Q|NIN_ENST00000530997.2_Missense_Mutation_p.E612Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	612					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	p.E618Q(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCATCTGTTCAATGACCAGC	0.438			T	PDGFRB	MPD								57	329					0	0	0	0	G	51228570	C	G	51228570	3	3	85	1	0	0	0	0	1	0	0	0	10487	835	29	2	4779	2	NIN	14	51228570	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08		51228570	56120970	79	16384											
GTF2A1	2957	broad.mit.edu	37	chr14	81670382	81670382	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctgttgaacttgcagtaGaagctgctgctcttctgaat	8	14	10	9	0	2	3	0	2	2	1	2	3	2	3	0	0	6	7	0	0	4	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr14:81670382G>C	ENST00000553612.1	-	3	602	c.199C>G	c.(199-201)Cta>Gta	p.L67V	GTF2A1_ENST00000434192.2_Missense_Mutation_p.L28V	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	67					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	p.L67V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		acttgcagtagaagctgctgc	0.463													32	89					0	0	0	0	C	81670382	G	C	81670382	3	2	85	1	0	0	0	0	1	0	0	0	6902	933	33	2	959	2	GTF2A1	14	81670382	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	30441812	81670382	25679158	80	16385											
SETD3	84193	broad.mit.edu	37	chr14	99879261	99879261	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacagcctcccagattcaAcacaacacaggggaagaggt	16	4	9	12	0	1	2	1	0	0	2	2	3	2	3	2	3	4	0	2	3	4	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr14:99879261A>C	ENST00000436070.2	-	8	946	c.876T>G	c.(874-876)tgT>tgG	p.C292W	SETD3_ENST00000331768.5_Intron|SETD3_ENST00000329331.3_Intron			Q86TU7	SETD3_HUMAN	SET domain containing 3	0	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CCCAGATTCAACACAACACAG	0.537													39	90					0	0	0	0	C	99879261	A	C	99879261	3	2	85	1	0	0	0	0	1	0	0	0	14219	58	2	5		5	SETD3	14	99879261	Missense_Mutation	SNP	A	TCGA-CN-5366-01A-01D-1434-08	18208879	99879261	7470279	81	16386											
OR4N4	283694	broad.mit.edu	37	chr15	22383148	22383148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtcatcctctgccatgttCgtagggcagcttctgaaggg	7	11	12	11	1	3	1	1	1	2	0	5	1	4	1	2	2	2	4	2	2	2	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr15:22383148C>T	ENST00000328795.4	+	1	767	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGCCATGTTCGTAGGGCAGC	0.483													24	321					0	0	0	0	T	22383148	C	T	22383148	3	4	85	1	0	0	0	0	1	0	0	0	11149	884	31	1	678	1	OR4N4	15	22383148	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08		22383148	80148244	82	16387											
SNRPN	6638	broad.mit.edu	37	chr15	25223367	25223367	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctcctccacctggtatgaGaccacccatgggcccaccaa	9	6	9	17	0	0	1	0	1	0	1	2	2	2	1	7	3	0	2	7	3	2	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr15:25223367G>C	ENST00000444203.2	+	7	1638	c.599G>C	c.(598-600)aGa>aCa	p.R200T	SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000577565.1_Missense_Mutation_p.R196T|SNRPN_ENST00000390687.4_Missense_Mutation_p.R196T|SNRPN_ENST00000346403.6_Missense_Mutation_p.R196T|SNRPN_ENST00000400097.1_Missense_Mutation_p.R196T|SNRPN_ENST00000400098.1_Missense_Mutation_p.R196T|SNRPN_ENST00000554227.2_Missense_Mutation_p.R200T|SNRPN_ENST00000400100.1_Missense_Mutation_p.R196T			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	196	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CCTGGTATGAGACCACCCATG	0.507									Prader-Willi syndrome				23	249					0	0	0	0	C	25223367	G	C	25223367	3	2	85	1	0	0	0	0	1	0	0	0	14958	942	33	2	609	2	SNRPN	15	25223367	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	2840219	25223367	77308025	83	16388											
NEDD4	4734	broad.mit.edu	37	chr15	56132818	56132818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actaaccatccaacagtttgCcatgataaactgccattcca	14	10	4	13	0	0	1	0	1	0	0	2	1	2	1	5	0	5	1	5	0	4	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr15:56132818C>T	ENST00000508342.1	-	16	3502	c.3203G>A	c.(3202-3204)gGc>gAc	p.G1068D	NEDD4_ENST00000338963.2_Missense_Mutation_p.G996D|NEDD4_ENST00000506154.1_Missense_Mutation_p.G1052D|NEDD4_ENST00000435532.3_Missense_Mutation_p.G649D			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1068	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAACAGTTTGCCATGATAAAC	0.338													5	203					0	0	0	0	T	56132818	C	T	56132818	3	4	85	1	0	0	0	0	1	0	0	0	10380	739	26	4	796	4	NEDD4	15	56132818	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	30909451	56132818	46398574	84	16389											
SIN3A	25942	broad.mit.edu	37	chr15	75704051	75704051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagtgggggagtctgctGactggccggagtatgtgctt	6	11	18	6	1	1	1	0	1	1	0	1	4	1	4	1	5	2	3	1	5	2	2			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr15:75704051G>T	ENST00000394947.3	-	6	1104	c.790C>A	c.(790-792)Cag>Aag	p.Q264K	SIN3A_ENST00000394949.4_Missense_Mutation_p.Q264K|SIN3A_ENST00000360439.4_Missense_Mutation_p.Q264K	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	264	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	p.Q264K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGAGTCTGCTGACTGGCCGGA	0.512													55	193					4.33383e-22	4.90496e-22	1	0	T	75704051	G	T	75704051	3	4	85	1	0	0	0	0	1	0	0	0	14413	1299	45	2	3095	2	SIN3A	15	75704051	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	19571233	75704051	26827341	85	16390											
SETD1A	9739	broad.mit.edu	37	chr16	30977267	30977267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagacccagatgttaactCggctccatcagctgcggcag	9	8	11	13	2	1	2	1	0	0	2	3	2	2	2	2	2	4	5	2	2	1	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:30977267C>T	ENST00000262519.8	+	8	2751	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.R689W(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GATGTTAACTCGGCTCCATCA	0.617													42	144					0	0	0	0	T	30977267	C	T	30977267	3	4	85	1	0	0	0	0	1	0	0	0	14217	875	31	1	2091	1	SETD1A	16	30977267	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08		30977267	59377486	86	16391											
ZNF267	10308	broad.mit.edu	37	chr16	31927606	31927606	+	Missense_Mutation	SNP	G	G	A																															gtcatacctcactacacatcGgagaagacatactggagaga																										TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:31927606G>A	ENST00000300870.10	+	4	2245	c.2036G>A	c.(2035-2037)cGg>cAg	p.R679Q	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	679					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						ACTACACATCGGAGAAGACAT	0.443													7	95					0	0	0	0	A	31927606	G	A	31927606	3	1	85	1	0	0	0	0	1	0	0	0	17901	1116	39	1	2050	1	ZNF267	16	31927606	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	950339	31927606	58427147	87	16392	143	2									
ZNF267	10308	broad.mit.edu	37	chr16	31927613	31927613	+	Missense_Mutation	SNP	A	A	T																															ctcactacacatcggagaagAcatactggagagagacccta																										TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:31927613A>T	ENST00000300870.10	+	4	2252	c.2043A>T	c.(2041-2043)agA>agT	p.R681S	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	681					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						ATCGGAGAAGACATACTGGAG	0.448													7	94					0	0	0	0	T	31927613	A	T	31927613	3	4	85	1	0	0	0	0	1	0	0	0	17901	272	10	5	2057	5	ZNF267	16	31927613	Missense_Mutation	SNP	A	TCGA-CN-5366-01A-01D-1434-08	7	31927613	58427140	88	16393	143	2									
DPEP2	64174	broad.mit.edu	37	chr16	68021883	68021883	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacacgtcttccagcccctGagggaatctgtgtggccacc	7	8	12	14	1	2	1	0	1	2	0	3	3	3	3	5	3	1	0	5	3	1	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:68021883G>A	ENST00000412757.2	-	11	1743	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	DPEP2_ENST00000393847.1_Nonsense_Mutation_p.Q360*|DPEP2_ENST00000572888.1_Nonsense_Mutation_p.Q360*			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	360					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.Q360*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TCCAGCCCCTGAGGGAATCTG	0.557													31	120					0	0	0	0	A	68021883	G	A	68021883	4	1	85	1	0	0	0	0	0	1	0	0	4750	1299	45	2	390	2	DPEP2	16	68021883	Nonsense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	36094270	68021883	22332870	89	16394											
PHLPP2	23035	broad.mit.edu	37	chr16	71710362	71710363	+	Frame_Shift_Ins	INS	-	-	A																															aactcactgttggaactggcINSatagagggtccgaagggaaa																										TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:71710362_71710363insA	ENST00000393524.2	-	8	2191_2192	c.1458_1459insT	c.(1456-1461)taccagfs	p.Q487fs	PHLPP2_ENST00000360429.3_Frame_Shift_Ins_p.Q487fs|PHLPP2_ENST00000356272.3_Frame_Shift_Ins_p.Q487fs|PHLPP2_ENST00000568954.1_Frame_Shift_Ins_p.Q487fs|PHLPP2_ENST00000567016.1_Frame_Shift_Ins_p.Q522fs			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	487						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTGGAACTGGCATAGAGGGTCC	0.5													15	58	---	---	---	---					A	71710363	-	A	71710362	7	5	85	1	0	1	1	0	0	0	0	0	11927	710	25	0	2556	0	PHLPP2	16	71710362	Frame_Shift_Ins	INS	-	TCGA-CN-5366-01A-01D-1434-08	3688479	71710362	18644391	90	16395											
SPEM1	374768	broad.mit.edu	37	chr17	7324583	7324583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaaacaggcatatggtccGagctgggcctaagggcctat	11	8	12	10	1	1	0	1	0	0	0	2	1	2	0	3	4	2	2	3	4	5	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:7324583G>A	ENST00000323675.3	+	3	614	c.589G>A	c.(589-591)Gag>Aag	p.E197K	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	197					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		p.E197K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CATATGGTCCGAGCTGGGCCT	0.637													5	95					0	0	0	0	A	7324583	G	A	7324583	3	1	85	1	0	0	0	0	1	0	0	0	15127	1059	37	1	599	1	SPEM1	17	7324583	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08		7324583	73870627	91	16396											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	6	9	14	12	2	2	0	2	0	0	0	3	0	3	0	3	3	3	2	3	3	1	0			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:7578413C>T	ENST00000420246.2	-	5	649	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCCTCACAACCTCCGTC	0.662		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			35	65					0	0	0	0	T	7578413	C	T	7578413	3	4	85	1	0	0	0	0	1	0	0	0	16476	478	17	4	781	4	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	253830	7578413	73616797	92	16397											
MYH13	8735	broad.mit.edu	37	chr17	10206726	10206726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacctggtaagtcatctcCttgactttgcgttcgtactt	6	16	7	12	2	2	1	1	1	1	0	4	1	2	1	3	1	3	3	3	1	3	7			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:10206726C>A	ENST00000418404.3	-	37	5719	c.5556G>T	c.(5554-5556)aaG>aaT	p.K1852N	MYH13_ENST00000252172.4_Missense_Mutation_p.K1852N|MYH13_ENST00000570743.1_Missense_Mutation_p.K1852N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1852					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K1852N(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAGTCATCTCCTTGACTTTGC	0.542													38	279					3.62531e-18	3.97966e-18	1	0	A	10206726	C	A	10206726	3	1	85	1	0	0	0	0	1	0	0	0	10102	680	24	4	276	4	MYH13	17	10206726	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	2628313	10206726	70988484	93	16398											
PIGS	94005	broad.mit.edu	37	chr17	26885585	26885585	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtcaaagcggggattcacCcccaacattgcatagtaaag	14	7	10	10	1	2	0	2	0	0	0	2	2	2	1	2	2	3	2	2	2	5	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:26885585C>A	ENST00000308360.7	-	8	1218	c.843G>T	c.(841-843)ggG>ggT	p.G281G	PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000543734.1_Silent_p.G220G|PIGS_ENST00000395346.2_Silent_p.G273G	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	281					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGGGATTCACCCCCAACATTG	0.473													9	23					7.48243e-07	7.85924e-07	1	0	A	26885585	C	A	26885585	2	1	85	1	0	0	0	0	0	0	0	1	11970	610	22	4		4	PIGS	17	26885585	Silent	SNP	C	TCGA-CN-5366-01A-01D-1434-08	16678859	26885585	54309625	94	16399											
MYO18A	399687	broad.mit.edu	37	chr17	27414043	27414043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggagctgcctctgtagccGcttgttctgttccttctccc	2	14	9	16	2	3	0	0	0	3	0	5	1	4	1	5	1	3	5	5	1	1	5			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:27414043G>A	ENST00000527372.1	-	38	5803	c.5623C>T	c.(5623-5625)Cgg>Tgg	p.R1875W	MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1875W|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1875W|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1838W	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1875					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.R1875W(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTCTGTAGCCGCTTGTTCTGT	0.612													18	92					0	0	0	0	A	27414043	G	A	27414043	3	1	85	1	0	0	0	0	1	0	0	0	10135	1086	38	1	561	1	MYO18A	17	27414043	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	528458	27414043	53781167	95	16400											
TMEM132E	124842	broad.mit.edu	37	chr17	32964713	32964713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggcatgtacgcgctgctggGcgtcttctgcctcgccatcc	3	10	12	16	5	2	0	0	0	2	0	4	0	3	0	3	2	3	4	3	2	1	2			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:32964713G>A	ENST00000321639.5	+	10	2745	c.2417G>A	c.(2416-2418)gGc>gAc	p.G806D		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	806						integral to membrane		p.G806D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCGCTGCTGGGCGTCTTCTGC	0.637													19	120					0	0	0	0	A	32964713	G	A	32964713	3	1	85	1	0	0	0	0	1	0	0	0	16142	1203	42	4	2455	4	TMEM132E	17	32964713	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	5550670	32964713	48230497	96	16401											
PLEKHM1	9842	broad.mit.edu	37	chr17	43516996	43516996	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttcatacaccccgtctGcgatctgcggagggcaagta	9	9	10	13	3	3	0	1	0	2	0	4	2	4	1	3	2	3	2	3	2	3	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:43516996G>C	ENST00000430334.3	-	11	3039	c.2906C>G	c.(2905-2907)gCa>gGa	p.A969G	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A880G|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	969					intracellular signal transduction	cytoplasm	metal ion binding	p.A969G(1)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CACCCCGTCTGCGATCTGCGG	0.582													26	69					0	0	0	0	C	43516996	G	C	43516996	3	2	85	1	0	0	0	0	1	0	0	0	12152	1319	46	4	272	4	PLEKHM1	17	43516996	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	10552283	43516996	37678214	97	16402											
NPEPPS	9520	broad.mit.edu	37	chr17	45695767	45695768	+	In_Frame_Ins	INS	-	-	TTG																															aaaccgaatcgaaagagtccINSttggcgctactcttttgcct																										TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:45695767_45695768insTTG	ENST00000322157.4	+	20	2584_2585	c.2347_2348insTTG	c.(2347-2349)tgg>TTGtgg	p.783_784insL	RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000544660.1_In_Frame_Ins_p.703_704insL|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000530173.1_In_Frame_Ins_p.779_780insL	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	783					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CGAAAGAGTCCTTGGCGCTACT	0.391													12	102	---	---	---	---					TTG	45695768	-	TTG	45695767	7	5	85	1	0	1	1	0	0	0	0	0	10645	681	24	0	2425	0	NPEPPS	17	45695767	In_Frame_Ins	INS	-	TCGA-CN-5366-01A-01D-1434-08	2178771	45695767	35499443	98	16403											
SETBP1	26040	broad.mit.edu	37	chr18	42533185	42533185	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaatgacaagtgggacagtGacgtgagtgggagtaaaagg	14	6	17	4	2	0	3	0	3	0	0	0	6	0	5	0	3	0	1	0	3	4	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr18:42533185G>C	ENST00000282030.5	+	4	4176	c.3880G>C	c.(3880-3882)Gac>Cac	p.D1294H		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1294						nucleus	DNA binding	p.D1240H(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTGGGACAGTGACGTGAGTGG	0.498									Schinzel-Giedion syndrome				11	80					0	0	0	0	C	42533185	G	C	42533185	3	2	85	1	0	0	0	0	1	0	0	0	14216	1290	45	2	4083	2	SETBP1	18	42533185	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08		42533185	35544063	99	16404											
ZNF554	115196	broad.mit.edu	37	chr19	2834412	2834412	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccttcaacaggatctcAtcgctgactcagcatcagag	13	8	8	12	1	4	2	4	1	1	1	6	3	4	3	1	1	3	2	1	1	2	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:2834412A>T	ENST00000317243.5	+	5	1377	c.1179A>T	c.(1177-1179)tcA>tcT	p.S393S		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S393S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		ACAGGATCTCATCGCTGACTC	0.532													17	81					0	0	0	0	T	2834412	A	T	2834412	2	4	85	1	0	0	0	0	0	0	0	1	18080	204	8	5		5	ZNF554	19	2834412	Silent	SNP	A	TCGA-CN-5366-01A-01D-1434-08		2834412	56294571	100	16405											
KANK3	256949	broad.mit.edu	37	chr19	8387792	8387792	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtggctgtctgggagccAgggggtgactcgctctggag	4	9	20	8	1	2	1	0	1	2	0	3	3	2	3	1	6	1	2	1	6	0	0			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:8387792A>T	ENST00000330915.3	-	11	2462	c.2397T>A	c.(2395-2397)ccT>ccA	p.P799P	RPS28_ENST00000600659.2_3'UTR	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	423										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TCTGGGAGCCAGGGGGTGACT	0.592													3	50					0	0	0	0	T	8387792	A	T	8387792	2	4	85	1	0	0	0	0	0	0	0	1	8031	175	7	5		5	KANK3	19	8387792	Silent	SNP	A	TCGA-CN-5366-01A-01D-1434-08	5553380	8387792	50741191	101	16406											
PRKACA	5566	broad.mit.edu	37	chr19	14217672	14217672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtgccgagggtcttgattCgttcaaactgatccaagtgg	8	11	12	10	3	2	2	1	2	1	0	4	3	3	2	3	2	2	1	3	2	2	3	rs56085217		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:14217672C>T	ENST00000308677.4	-	3	333	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.R38Q|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	46	Protein kinase.		R -> Q (in dbSNP:rs56085217).		activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GGTCTTGATTCGTTCAAACTG	0.602													11	113					0	0	0	0	T	14217672	C	T	14217672	3	4	85	1	0	0	0	0	1	0	0	0	12577	884	31	1	950	1	PRKACA	19	14217672	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	5829880	14217672	44911311	102	16407											
MYO9B	4650	broad.mit.edu	37	chr19	17305984	17305984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcctggccagttggagCggccgaccagcctggccctg	5	5	15	16	2	0	0	0	0	0	0	0	2	0	1	7	5	2	1	7	5	0	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:17305984C>T	ENST00000595618.1	+	22	3900	c.3748C>T	c.(3748-3750)Cgg>Tgg	p.R1250W	MYO9B_ENST00000397274.2_Missense_Mutation_p.R1250W|MYO9B_ENST00000594824.1_Missense_Mutation_p.R1250W	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1250	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCAGTTGGAGCGGCCGACCAG	0.677													9	21					0	0	0	0	T	17305984	C	T	17305984	3	4	85	1	0	0	0	0	1	0	0	0	10155	759	27	1	3830	1	MYO9B	19	17305984	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	3088312	17305984	41822999	103	16408											
ZNF493	284443	broad.mit.edu	37	chr19	21606315	21606315	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataccttactaggcataagcTaattcatactagagagaaac	17	10	6	8	0	1	2	1	0	0	2	1	3	1	2	1	1	5	2	1	1	8	8			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:21606315T>G	ENST00000392288.2	+	4	963	c.854T>G	c.(853-855)cTa>cGa	p.L285R	ZNF493_ENST00000355504.4_Missense_Mutation_p.L157R|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L157R(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGGCATAAGCTAATTCATACT	0.343													26	103					0	0	0	0	G	21606315	T	G	21606315	3	3	85	1	0	0	0	0	1	0	0	0	18039	1522	53	5	931	5	ZNF493	19	21606315	Missense_Mutation	SNP	T	TCGA-CN-5366-01A-01D-1434-08	4300331	21606315	37522668	104	16409			1	25		2	2	25	N	T_A	9.147839e-05
ZNF493	284443	broad.mit.edu	37	chr19	21606339	21606339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatactagagagaaaccctAtaaatgtgaacaatatggca	18	9	7	7	0	1	3	1	1	0	2	1	4	1	3	1	1	3	1	1	1	9	5			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:21606339A>G	ENST00000392288.2	+	4	987	c.878A>G	c.(877-879)tAt>tGt	p.Y293C	ZNF493_ENST00000355504.4_Missense_Mutation_p.Y165C|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y165C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAGAAACCCTATAAATGTGAA	0.343													25	114					0	0	0	0	G	21606339	A	G	21606339	3	3	85	1	0	0	0	0	1	0	0	0	18039	449	16	5	955	5	ZNF493	19	21606339	Missense_Mutation	SNP	A	TCGA-CN-5366-01A-01D-1434-08	24	21606339	37522644	105	16410			1	25		2	2	25	N	T_A	9.147839e-05
ZNF429	353088	broad.mit.edu	37	chr19	21719595	21719595	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactcaacccttactaaccAtaagagaattcatactggag	15	10	5	11	0	2	1	2	0	0	1	2	3	2	2	2	1	5	0	2	1	7	6			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:21719595A>G	ENST00000358491.4	+	4	948	c.740A>G	c.(739-741)cAt>cGt	p.H247R	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H247R(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTTACTAACCATAAGAGAATT	0.383													14	87					0	0	0	0	G	21719595	A	G	21719595	3	3	85	1	0	0	0	0	1	0	0	0	17997	217	8	5	754	5	ZNF429	19	21719595	Missense_Mutation	SNP	A	TCGA-CN-5366-01A-01D-1434-08	113256	21719595	37409388	106	16411											
ZNF100	163227	broad.mit.edu	37	chr19	21910043	21910043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtgtagtaagggttgaGgactggttaaaggctttgcc	9	14	14	4	0	0	1	0	1	0	0	0	2	0	2	1	4	1	5	1	4	5	6			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:21910043G>A	ENST00000358296.6	-	5	1269	c.1071C>T	c.(1069-1071)tcC>tcT	p.S357S	ZNF100_ENST00000305570.6_Silent_p.S293S	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TAAGGGTTGAGGACTGGTTAA	0.398													19	179					0	0	0	0	A	21910043	G	A	21910043	2	1	85	1	0	0	0	0	0	0	0	1	17808	987	35	4		4	ZNF100	19	21910043	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08	190448	21910043	37218940	107	16412											
PSG4	5672	broad.mit.edu	37	chr19	43708353	43708353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactttgggtggctgggcttCaatcgtgacttgggcagttg	6	13	15	7	1	1	1	1	1	0	0	2	1	1	1	0	4	1	4	0	4	2	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:43708353C>T	ENST00000405312.3	-	2	352	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	PSG4_ENST00000244295.9_Missense_Mutation_p.E39K|PSG4_ENST00000433626.2_Missense_Mutation_p.E39K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	39	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGCTGGGCTTCAATCGTGACT	0.458													45	385					0	0	0	0	T	43708353	C	T	43708353	3	4	85	1	0	0	0	0	1	0	0	0	12736	835	29	2	1164	2	PSG4	19	43708353	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	21798310	43708353	15420630	108	16413											
ZNF221	7638	broad.mit.edu	37	chr19	44471151	44471151	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttttgaaacatcagagactCcacagtggggaaaaaccttt	14	10	8	9	0	1	2	1	1	0	1	2	4	2	3	2	2	2	0	2	2	3	3	rs79157058	byFrequency	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:44471151C>A	ENST00000251269.5	+	6	1825	c.1497C>A	c.(1495-1497)ctC>ctA	p.L499L	ZNF221_ENST00000587682.1_Silent_p.L499L|ZNF221_ENST00000592350.1_Silent_p.L499L	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L499L(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ATCAGAGACTCCACAGTGGGG	0.458													32	129					4.3181e-19	4.77608e-19	1	0	A	44471151	C	A	44471151	2	1	85	1	0	0	0	0	0	0	0	1	17870	842	30	2		2	ZNF221	19	44471151	Silent	SNP	C	TCGA-CN-5366-01A-01D-1434-08	762798	44471151	14657832	109	16414											
FPR2	2358	broad.mit.edu	37	chr19	52272530	52272531	+	Frame_Shift_Ins	INS	-	-	T																															cagagggattatccggtttgINStcattggctttagcttgccg																										TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:52272530_52272531insT	ENST00000598776.1	+	2	1391_1392	c.619_620insT	c.(619-621)catfs	p.H207fs	FPR2_ENST00000598953.1_Frame_Shift_Ins_p.H207fs|FPR2_ENST00000340023.6_Frame_Shift_Ins_p.H207fs	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	207					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TATCCGGTTTGTCATTGGCTTT	0.505													37	93	---	---	---	---					T	52272531	-	T	52272530	7	5	85	1	0	1	1	0	0	0	0	0	6086	1377	48	0	621	0	FPR2	19	52272530	Frame_Shift_Ins	INS	-	TCGA-CN-5366-01A-01D-1434-08	7801379	52272530	6856453	110	16415											
TMC4	147798	broad.mit.edu	37	chr19	54664984	54664984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggcagccggggagcaggtgGagaagagggtaagctggtgg	9	4	23	5	1	0	2	0	0	0	2	0	4	0	3	1	8	3	4	1	8	2	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:54664984G>A	ENST00000376591.4	-	12	1849	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	TMC4_ENST00000301187.4_Missense_Mutation_p.S567F|TMC4_ENST00000416963.1_Missense_Mutation_p.S155F	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	573						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGAGCAGGTGGAGAAGAGGGT	0.552													6	28					0	0	0	0	A	54664984	G	A	54664984	3	1	85	1	0	0	0	0	1	0	0	0	16081	1174	41	2	436	2	TMC4	19	54664984	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	2392454	54664984	4463999	111	16416											
LILRA3	11026	broad.mit.edu	37	chr19	54803127	54803127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgggctcacggggcccaCggagaagatggcccgggatg	8	5	17	11	3	1	2	1	0	0	2	1	4	1	3	2	6	0	1	2	6	1	1			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:54803127C>T	ENST00000391745.1	-	8	917	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.V184M					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3									p.V184M(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCCCACGGAGAAGATG	0.567													53	55					0	0	0	0	T	54803127	C	T	54803127	3	4	85	1	0	0	0	0	1	0	0	0	8840	536	19	1	785	1	LILRA3	19	54803127	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	138143	54803127	4325856	112	16417											
CST4	1472	broad.mit.edu	37	chr20	23667796	23667796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacttggtacatatggtgcGgcccacctctacgtcgaaga	9	9	12	11	3	1	1	0	0	1	1	2	3	1	2	2	4	3	1	2	4	4	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr20:23667796G>A	ENST00000217423.3	-	2	341	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	91						extracellular region	cysteine-type endopeptidase inhibitor activity	p.R91C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CATATGGTGCGGCCCACCTCT	0.572													27	219					0	0	0	0	A	23667796	G	A	23667796	3	1	85	1	0	0	0	0	1	0	0	0	4006	1116	39	1	162	1	CST4	20	23667796	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08		23667796	39357724	113	16418											
APOBEC3C	27350	broad.mit.edu	37	chr22	39411612	39411612	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttcagaaacccgatgaaGgcaatgtatccaggcacatt	13	8	9	11	1	1	2	1	1	0	1	2	3	2	2	3	2	1	3	3	2	4	3			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr22:39411612G>A	ENST00000361441.3	+	2	310	c.30G>A	c.(28-30)aaG>aaA	p.K10K	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	10					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					ACCCGATGAAGGCAATGTATC	0.522													19	157					0	0	0	0	A	39411612	G	A	39411612	2	1	85	1	0	0	0	0	0	0	0	1	793	991	35	4		4	APOBEC3C	22	39411612	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08		39411612	11892954	114	16419											
CNKSR2	22866	broad.mit.edu	37	chrX	21609140	21609140	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagcatttccaccctttagGtcctatagcaggcaagagca	12	9	9	11	0	0	2	0	0	0	2	2	2	2	2	3	2	3	4	3	2	4	5			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrX:21609140G>T	ENST00000425654.2	+	14	2048	c.1567_splice	c.e14-1	p.G523_splice	CNKSR2_ENST00000379510.3_Splice_Site_p.G553_splice|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Splice_Site_p.G504_splice|CNKSR2_ENST00000279451.4_Splice_Site_p.G553_splice	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	553					regulation of signal transduction	cytoplasm|membrane	protein binding	p.G553V(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CACCCTTTAGGTCCTATAGCA	0.383													51	102					9.16383e-17	9.91052e-17	1	0	T	21609140	G	T	21609140	5	4	85	1	0	0	0	0	0	0	1	0	3637	1275	44	4	1716	4	CNKSR2	23	21609140	Splice_Site	SNP	G	TCGA-CN-5366-01A-01D-1434-08		21609140	133661420	115	16420											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29417342	29417342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttataagagaagtcaGagaagatgacattggaaatt	16	11	10	4	0	2	4	1	1	1	3	2	7	2	5	0	1	1	1	0	1	5	4			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrX:29417342G>T	ENST00000378993.1	+	5	1293	c.620G>T	c.(619-621)aGa>aTa	p.R207I	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R207I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	207	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.R207I(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGAGAAGTCAGAGAAGATGAC	0.338													28	42					1.33986e-20	1.50477e-20	1	0	T	29417342	G	T	29417342	3	4	85	1	0	0	0	0	1	0	0	0	7714	942	33	2	634	2	IL1RAPL1	23	29417342	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08	7808202	29417342	125853218	116	16421											
KIAA2022	340533	broad.mit.edu	37	chrX	73962241	73962241	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttaaatttgattttattGagcactttcctctctggccc	7	19	5	10	0	1	2	0	2	1	0	3	2	2	2	2	1	1	1	2	1	3	7			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrX:73962241G>C	ENST00000373468.1	-	3	2802	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L	KIAA2022_ENST00000055682.5_Silent_p.L717L			Q5QGS0	K2022_HUMAN	KIAA2022	717					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGATTTTATTGAGCACTTTCC	0.418													4	103					0	0	0	0	C	73962241	G	C	73962241	2	2	85	1	0	0	0	0	0	0	0	1	8320	1277	45	2		2	KIAA2022	23	73962241	Silent	SNP	G	TCGA-CN-5366-01A-01D-1434-08	44544899	73962241	81308319	117	16422											
NRK	203447	broad.mit.edu	37	chrX	105153047	105153047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaggcacctccacgactaCggagggcagccagggtgctc	9	6	13	13	2	0	0	0	0	0	0	2	2	1	1	3	4	3	3	3	4	2	2			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrX:105153047C>T	ENST00000428173.2	+	13	1720	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	NRK_ENST00000243300.9_Missense_Mutation_p.R472W			Q7Z2Y5	NRK_HUMAN	Nik related kinase	472	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R473W(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCCACGACTACGGAGGGCAGC	0.557										HNSCC(51;0.14)			10	26					0	0	0	0	T	105153047	C	T	105153047	3	4	85	1	0	0	0	0	1	0	0	0	10726	527	19	1	1464	1	NRK	23	105153047	Missense_Mutation	SNP	C	TCGA-CN-5366-01A-01D-1434-08	31190806	105153047	50117513	118	16423											
CLDN2	9075	broad.mit.edu	37	chrX	106171511	106171511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcctaggccttctggggcTtttgggcacactggttgcca	5	12	12	12	0	1	0	0	0	1	0	2	0	2	0	3	5	1	3	3	5	1	5			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrX:106171511T>C	ENST00000541806.1	+	2	572	c.53T>C	c.(52-54)cTt>cCt	p.L18P	CLDN2_ENST00000336803.1_Missense_Mutation_p.L18P|CLDN2_ENST00000540876.1_Missense_Mutation_p.L18P	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	18					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTTCTGGGGCTTTTGGGCACA	0.562													3	98					0	0	0	0	C	106171511	T	C	106171511	3	2	85	1	0	0	0	0	1	0	0	0	3511	1609	56	5	55	5	CLDN2	23	106171511	Missense_Mutation	SNP	T	TCGA-CN-5366-01A-01D-1434-08	1018464	106171511	49099049	119	16424											
DDX3Y	8653	broad.mit.edu	37	chrY	15025642	15025642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggcagtttagcgatattGacatgggagaaattatcatg	12	13	11	5	1	1	2	1	1	0	1	1	4	1	2	0	2	1	2	0	2	4	6			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrY:15025642G>A	ENST00000336079.3	+	7	656	c.550G>A	c.(550-552)Gac>Aac	p.D184N	DDX3Y_ENST00000360160.4_Missense_Mutation_p.D184N|DDX3Y_ENST00000463199.1_3'UTR	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	184						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	p.D184N(1)		kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						TAGCGATATTGACATGGGAGA	0.348													16	83					0	0	0	0	A	15025642	G	A	15025642	3	1	85	1	0	0	0	0	1	0	0	0	4391	1290	45	2	576	2	DDX3Y	24	15025642	Missense_Mutation	SNP	G	TCGA-CN-5366-01A-01D-1434-08		15025642	44347924	120	16425											
EFHD2	79180	broad.mit.edu	37	chr1	15752368	15752368	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctttttgcatctgcaggTatgatgccgggcgggacggc	5	12	14	10	3	2	1	0	1	2	0	3	2	2	2	1	4	3	3	1	4	1	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:15752368T>G	ENST00000375980.4	+	2	387	c.308_splice	c.e2-1	p.Y104_splice		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	104	EF-hand 1.					membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CATCTGCAGGTATGATGCCGG	0.557													10	96					0	0	0	0	G	15752368	T	G	15752368	5	3	86	1	0	0	0	0	0	0	1	0	4985	1652	57	5	316	5	EFHD2	1	15752368	Splice_Site	SNP	T	TCGA-CN-5367-01A-01D-1434-08		15752368	233498253	1	16426											
COL8A2	1296	broad.mit.edu	37	chr1	36564363	36564363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtggggcctatcagcccagGggggccccgggtccctggct	4	6	17	14	1	1	0	1	0	0	0	2	0	2	0	5	7	1	1	5	7	1	1	rs372280		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:36564363G>A	ENST00000397799.1	-	4	1143	c.919C>T	c.(919-921)Cct>Tct	p.P307S	COL8A2_ENST00000303143.4_Missense_Mutation_p.P307S|COL8A2_ENST00000481785.1_Missense_Mutation_p.P242S			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	307	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCAGCCCAGGGGGGCCCCGG	0.706													25	32					0	0	0	0	A	36564363	G	A	36564363	3	1	86	1	0	0	0	0	1	0	0	0	3736	1232	43	4	1196	4	COL8A2	1	36564363	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	20811995	36564363	212686258	2	16427											
GLMN	11146	broad.mit.edu	37	chr1	92752126	92752126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaattgtgctgtcagcaaaGggcatttcaagcttttgaaa	13	12	10	6	0	2	2	2	1	0	1	2	2	2	2	0	1	3	4	0	1	4	4			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:92752126G>T	ENST00000370360.3	-	7	737	c.656C>A	c.(655-657)cCt>cAt	p.P219H	GLMN_ENST00000534881.1_Missense_Mutation_p.P219H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	219					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TGTCAGCAAAGGGCATTTCAA	0.333									Multiple Glomus Tumors (of the Skin), Familial				4	86					0.00024832	0.000258387	1	0	T	92752126	G	T	92752126	3	4	86	1	0	0	0	0	1	0	0	0	6499	1000	35	4	1180	4	GLMN	1	92752126	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	56187763	92752126	156498495	3	16428											
ITGA10	8515	broad.mit.edu	37	chr1	145535818	145535818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagagggactgtaggcggcGaggccaagaggcagtctgtc	9	6	17	9	2	2	2	1	0	1	2	3	4	2	3	1	5	0	2	1	5	2	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:145535818G>A	ENST00000369304.3	+	16	2181	c.2006G>A	c.(2005-2007)cGa>cAa	p.R669Q	ITGA10_ENST00000539363.1_Missense_Mutation_p.R526Q|ITGA10_ENST00000538811.1_Missense_Mutation_p.R538Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	669					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.R669Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTAGGCGGCGAGGCCAAGAG	0.577													25	139					0	0	0	0	A	145535818	G	A	145535818	3	1	86	1	0	0	0	0	1	0	0	0	7926	1058	37	1	2068	1	ITGA10	1	145535818	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	52783692	145535818	103714803	4	16429											
HRNR	388697	broad.mit.edu	37	chr1	152193084	152193084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaagtctggcctgagcCagactcataatggccacggc	10	6	12	13	1	2	3	1	1	1	2	2	3	2	3	4	3	1	0	4	3	2	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:152193084C>G	ENST00000368801.2	-	3	1096	c.1021G>C	c.(1021-1023)Ggc>Cgc	p.G341R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	341					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCTGAGCCAGACTCATAA	0.577													11	124					0	0	0	0	G	152193084	C	G	152193084	3	3	86	1	0	0	0	0	1	0	0	0	7409	594	21	4	7535	4	HRNR	1	152193084	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	6657266	152193084	97057537	5	16430											
PEAR1	375033	broad.mit.edu	37	chr1	156876577	156876577	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtacccctggctactaTggccctgcctgccagttccg	4	10	9	18	1	0	0	0	0	0	0	1	0	1	0	7	2	4	3	7	2	3	4			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:156876577T>A	ENST00000338302.3	+	7	774	c.549T>A	c.(547-549)taT>taA	p.Y183*	PEAR1_ENST00000292357.7_Nonsense_Mutation_p.Y183*			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	183						integral to membrane				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)					CTGGCTACTATGGCCCTGCCT	0.632													7	76					0	0	0	0	A	156876577	T	A	156876577	4	1	86	1	0	0	0	0	0	1	0	0	11783	1471	51	5	567	5	PEAR1	1	156876577	Nonsense_Mutation	SNP	T	TCGA-CN-5367-01A-01D-1434-08	4683493	156876577	92374044	6	16431											
EFCAB2	84288	broad.mit.edu	37	chr1	245250645	245250645	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggactatataacaatgatgGtgatagatgaaaattaaatg	19	11	9	2	0	0	4	0	3	0	1	0	5	0	5	0	2	1	0	0	2	9	5			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:245250645G>C	ENST00000366523.1	+	8	737	c.472G>C	c.(472-474)Gtg>Ctg	p.V158L	EFCAB2_ENST00000447569.2_Intron|EFCAB2_ENST00000366522.2_Intron|EFCAB2_ENST00000487845.1_Intron	NM_032328.3	NP_115704.1	Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2	0	EF-hand 1.						calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			AACAATGATGGTGATAGATGA	0.294													6	52					0	0	0	0	C	245250645	G	C	245250645	3	2	86	1	0	0	0	0	1	0	0	0	4970	1261	44	4	498	4	EFCAB2	1	245250645	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	88374068	245250645	3999976	7	16432											
ZNF513	130557	broad.mit.edu	37	chr2	27600905	27600905	+	Frame_Shift_Del	DEL	T	T	-																															caccactgtgtgtcttcatgTgccgggccaggtggttggga																										TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:27600905delT	ENST00000323703.6	-	4	1331	c.1133delA	c.(1132-1134)ccfs	p.H378fs	ZNF513_ENST00000407879.1_Frame_Shift_Del_p.H316fs|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	378					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCTTCATGTGCCGGGCCAG	0.622													48	229	---	---	---	---					-	27600905	T	-	27600905	7	5	86	1	0	1	0	1	0	0	0	0	18053	1696	59	0	496	0	ZNF513	2	27600905	Frame_Shift_Del	DEL	T	TCGA-CN-5367-01A-01D-1434-08		27600905	215598468	8	16433											
ALMS1	7840	broad.mit.edu	37	chr2	73678468	73678468	+	Frame_Shift_Del	DEL	A	A	-																															cattgtttctggacctactgAaaaaaagactgacataccag																										TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:73678468delA	ENST00000264448.6	+	8	4922	c.4811delA	c.(4810-4812)gafs	p.E1604fs	ALMS1_ENST00000409009.1_Frame_Shift_Del_p.E1562fs|ALMS1_ENST00000377715.1_Frame_Shift_Del_p.E1604fs	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1604	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGACCTACTGAAAAAAAGACT	0.453													11	138	---	---	---	---					-	73678468	A	-	73678468	7	5	86	1	0	1	0	1	0	0	0	0	535	246	9	0	4841	0	ALMS1	2	73678468	Frame_Shift_Del	DEL	A	TCGA-CN-5367-01A-01D-1434-08	46077563	73678468	169520905	9	16434											
ERCC3	2071	broad.mit.edu	37	chr2	128046972	128046972	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttcttcatccttgtccaTttgctcatagaagtcaaaca	10	16	4	11	0	5	1	3	0	2	1	7	1	7	1	2	0	2	1	2	0	3	6			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:128046972T>C	ENST00000493187.2	-	6	1034	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	ERCC3_ENST00000285398.2_Missense_Mutation_p.M255V			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	255					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCCTTGTCCATTTGCTCATAG	0.478			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				16	60					0	0	0	0	C	128046972	T	C	128046972	3	2	86	1	0	0	0	0	1	0	0	0	5252	1493	52	5	1625	5	ERCC3	2	128046972	Missense_Mutation	SNP	T	TCGA-CN-5367-01A-01D-1434-08	54368504	128046972	115152401	10	16435											
NCKAP5	344148	broad.mit.edu	37	chr2	133538710	133538710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgatagagctgccgatgAgacaggagccctgagaactg	12	7	13	9	1	0	4	0	3	0	3	0	8	0	5	2	1	5	1	2	1	3	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:133538710A>G	ENST00000409261.1	-	15	5337	c.4964T>C	c.(4963-4965)cTc>cCc	p.L1655P	NCKAP5_ENST00000317721.6_Missense_Mutation_p.L1655P|NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1655							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGCCGATGAGACAGGAGCC	0.458													7	41					0	0	0	0	G	133538710	A	G	133538710	3	3	86	1	0	0	0	0	1	0	0	0	10293	304	11	5	789	5	NCKAP5	2	133538710	Missense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08	5491738	133538710	109660663	11	16436											
ITGB6	3694	broad.mit.edu	37	chr2	161052924	161052924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccaactccagatggatgaGtaaaattctaaaaaagaaaa	20	7	7	7	1	1	3	0	1	1	2	2	4	2	4	2	1	1	1	2	1	8	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:161052924G>A	ENST00000283249.2	-	3	386	c.149C>T	c.(148-150)aCt>aTt	p.T50I	ITGB6_ENST00000409872.1_Missense_Mutation_p.T50I|ITGB6_ENST00000428609.2_Missense_Mutation_p.T8I|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Missense_Mutation_p.T50I			P18564	ITB6_HUMAN	integrin, beta 6	50					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGATGGATGAGTAAAATTCTA	0.333													55	142					0	0	0	0	A	161052924	G	A	161052924	3	1	86	1	0	0	0	0	1	0	0	0	7952	1029	36	4	2269	4	ITGB6	2	161052924	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	27514214	161052924	82146449	12	16437											
ITGA6	3655	broad.mit.edu	37	chr2	173352098	173352098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaatcccacaaaagatggcGatgacgcccatgaggctaaa	15	5	11	10	2	0	3	0	2	0	1	1	5	1	4	2	3	0	1	2	3	5	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:173352098G>A	ENST00000375221.2	+	16	2397	c.2194G>A	c.(2194-2196)Gat>Aat	p.D732N	ITGA6_ENST00000264107.7_Missense_Mutation_p.D693N|ITGA6_ENST00000343713.4_Missense_Mutation_p.D688N|ITGA6_ENST00000409532.1_Missense_Mutation_p.D574N|ITGA6_ENST00000264106.6_Missense_Mutation_p.D732N|ITGA6_ENST00000409080.1_Missense_Mutation_p.D693N|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	732					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AAAAGATGGCGATGACGCCCA	0.418													28	62					0	0	0	0	A	173352098	G	A	173352098	3	1	86	1	0	0	0	0	1	0	0	0	7933	1058	37	1	2135	1	ITGA6	2	173352098	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	12299174	173352098	69847275	13	16438											
TTN	7273	broad.mit.edu	37	chr2	179582331	179582331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atactgccctatgtggctctGgtcagtttgtaaaatctgaa	10	14	9	8	0	3	1	1	1	2	0	3	1	3	1	1	2	2	3	1	2	5	4			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:179582331G>T	ENST00000589042.1	-	87	25494	c.25270C>A	c.(25270-25272)Cag>Aag	p.Q8424K	TTN_ENST00000591111.1_Missense_Mutation_p.Q8107K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q7180K|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8107	Ig-like 67.						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)			ATGTGGCTCTGGTCAGTTTGT	0.423													11	33					4.68919e-08	5.0499e-08	1	0	T	179582331	G	T	179582331	3	4	86	1	0	0	0	0	1	0	0	0	16831	1357	47	4	79363	4	TTN	2	179582331	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	6230233	179582331	63617042	14	16439											
ZC3H15	55854	broad.mit.edu	37	chr2	187366146	187366146	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcaagagatgaagaacttGaaaaaggtaatttttttaaa	19	12	8	2	0	0	4	0	2	0	2	0	5	0	4	0	1	2	2	0	1	8	6			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:187366146G>C	ENST00000337859.6	+	4	663	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	ZC3H15_ENST00000544130.1_Intron|ZC3H15_ENST00000468120.1_3'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	146						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGAAGAACTTGAAAAAGGTAA	0.299													4	82					0	0	0	0	C	187366146	G	C	187366146	3	2	86	1	0	0	0	0	1	0	0	0	17662	1291	45	2	450	2	ZC3H15	2	187366146	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	7783815	187366146	55833227	15	16440											
PAX3	5077	broad.mit.edu	37	chr2	223161786	223161786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacgcagccgtgggacaCgcgcagctggcgcgagatga	9	3	18	11	6	0	3	0	1	0	2	0	6	0	4	1	3	2	3	1	3	0	0			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:223161786C>T	ENST00000350526.4	-	2	368	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	PAX3_ENST00000258387.5_Missense_Mutation_p.V78M|PAX3_ENST00000392069.2_Missense_Mutation_p.V78M|PAX3_ENST00000409828.3_Missense_Mutation_p.V78M|PAX3_ENST00000336840.6_Missense_Mutation_p.V78M|PAX3_ENST00000409551.3_Missense_Mutation_p.V78M|PAX3_ENST00000392070.2_Missense_Mutation_p.V78M|PAX3_ENST00000344493.4_Missense_Mutation_p.V78M	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	78	Paired.		V -> M (in WS1).		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGGGACACGCGCAGCTGG	0.652			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						3	36					0	0	0	0	T	223161786	C	T	223161786	3	4	86	1	0	0	0	0	1	0	0	0	11551	536	19	1	1450	1	PAX3	2	223161786	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	35795640	223161786	20037587	16	16441											
GRM2	2912	broad.mit.edu	37	chr3	51746779	51746779	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggccgtgccatgagccgCgcggcctttgagggtgtggt	3	9	19	10	4	0	2	0	2	0	0	0	2	0	2	4	4	2	0	4	4	0	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:51746779C>T	ENST00000395052.3	+	3	975	c.741C>T	c.(739-741)cgC>cgT	p.R247R	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Silent_p.R247R	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	247					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCATGAGCCGCGCGGCCTTTG	0.647													3	37					0	0	0	0	T	51746779	C	T	51746779	2	4	86	1	0	0	0	0	0	0	0	1	6847	755	27	1		1	GRM2	3	51746779	Silent	SNP	C	TCGA-CN-5367-01A-01D-1434-08		51746779	146275651	17	16442											
SUCLG2	8801	broad.mit.edu	37	chr3	67546294	67546294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccacctccaagatccaaGaagttggctggcttcccacc	11	7	7	16	0	0	2	0	0	0	2	3	2	3	2	6	2	0	3	6	2	3	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:67546294G>T	ENST00000307227.5	-	9	1017	c.990C>A	c.(988-990)ttC>ttA	p.F330L	SUCLG2_ENST00000492795.1_Missense_Mutation_p.F330L|SUCLG2_ENST00000493112.1_Missense_Mutation_p.F330L	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	330					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CAAGATCCAAGAAGTTGGCTG	0.443													17	31					1.99824e-07	2.137e-07	1	0	T	67546294	G	T	67546294	3	4	86	1	0	0	0	0	1	0	0	0	15455	933	33	2	464	2	SUCLG2	3	67546294	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	15799515	67546294	130476136	18	16443											
ZNF654	55279	broad.mit.edu	37	chr3	88189025	88189025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaactgtgtgccatccaaaaGacatatatgccacagatcaa	16	8	7	10	0	1	2	1	0	0	2	2	3	2	2	3	0	3	0	3	0	6	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:88189025G>C	ENST00000309495.5	+	1	772	c.565G>C	c.(565-567)Gac>Cac	p.D189H	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CCATCCAAAAGACATATATGC	0.358													6	13					0	0	0	0	C	88189025	G	C	88189025	3	2	86	1	0	0	0	0	1	0	0	0	18162	942	33	2	567	2	ZNF654	3	88189025	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	20642731	88189025	109833405	19	16444											
OR5H15	403274	broad.mit.edu	37	chr3	97888223	97888223	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctcttcacagtcttagAaaagaaatctgataagggtg	13	13	9	6	0	4	3	1	1	3	2	5	3	4	3	0	1	0	1	0	1	5	4			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:97888223A>T	ENST00000356526.2	+	1	680	c.680A>T	c.(679-681)gAa>gTa	p.E227V		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ACAGTCTTAGAAAAGAAATCT	0.358													5	96					0	0	0	0	T	97888223	A	T	97888223	3	4	86	1	0	0	0	0	1	0	0	0	11232	246	9	5	682	5	OR5H15	3	97888223	Missense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08	9699198	97888223	100134207	20	16445											
POLQ	10721	broad.mit.edu	37	chr3	121200622	121200622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taactatgctatgaagagtcGgctcctgagaatctggatct	11	12	10	8	1	2	3	0	2	2	2	4	5	3	4	1	2	2	2	1	2	5	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:121200622G>A	ENST00000264233.5	-	19	6136	c.6008C>T	c.(6007-6009)cCg>cTg	p.P2003L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2003					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATGAAGAGTCGGCTCCTGAGA	0.438								DNA polymerases (catalytic subunits)					16	116					0	0	0	0	A	121200622	G	A	121200622	3	1	86	1	0	0	0	0	1	0	0	0	12280	1116	39	1	1812	1	POLQ	3	121200622	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	23312399	121200622	76821808	21	16446											
TF	7018	broad.mit.edu	37	chr3	133486976	133486976	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgtgaacccaacaacaaAgagggatactacggctacac	15	6	9	11	1	0	2	0	1	0	1	0	3	0	3	1	2	6	1	1	2	7	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:133486976A>G	ENST00000402696.3	+	13	2075	c.1590A>G	c.(1588-1590)aaA>aaG	p.K530K	TF_ENST00000264998.3_Silent_p.K403K	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	530	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CCAACAACAAAGAGGGATACT	0.443													14	85					0	0	0	0	G	133486976	A	G	133486976	2	3	86	1	0	0	0	0	0	0	0	1	15879	69	3	5		5	TF	3	133486976	Silent	SNP	A	TCGA-CN-5367-01A-01D-1434-08	12286354	133486976	64535454	22	16447											
MCCC1	56922	broad.mit.edu	37	chr3	182759449	182759449	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaggcatgaagttattgctAggatcttctgcatatattct	11	15	8	7	0	3	1	0	1	3	0	3	2	3	2	0	2	2	4	0	2	5	7			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:182759449A>C	ENST00000492597.1	-	10	1548	c.846T>G	c.(844-846)ccT>ccG	p.P282P	MCCC1_ENST00000265594.4_Silent_p.P391P|MCCC1_ENST00000539926.1_Silent_p.P256P			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	391	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AGTTATTGCTAGGATCTTCTG	0.488													12	206					0	0	0	0	C	182759449	A	C	182759449	2	2	86	1	0	0	0	0	0	0	0	1	9443	407	15	5		5	MCCC1	3	182759449	Silent	SNP	A	TCGA-CN-5367-01A-01D-1434-08	49272473	182759449	15262981	23	16448											
HTR3C	170572	broad.mit.edu	37	chr3	183773130	183773130	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagctgctgacatcattcCtgtggatggatttggtaagg	8	13	12	8	0	1	1	1	1	0	0	3	3	3	3	2	4	2	3	2	4	1	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:183773130C>G	ENST00000318351.1	+	3	299	c.265C>G	c.(265-267)Ctg>Gtg	p.L89V		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	89						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GACATCATTCCTGTGGATGGA	0.438													23	105					0	0	0	0	G	183773130	C	G	183773130	3	3	86	1	0	0	0	0	1	0	0	0	7499	680	24	4	275	4	HTR3C	3	183773130	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	1013681	183773130	14249300	24	16449											
TBC1D14	57533	broad.mit.edu	37	chr4	6925212	6925212	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcagaacctgcaacaCgtcaatctcaaggcgccccg	10	6	7	18	3	3	1	3	0	1	1	4	1	3	1	5	1	3	1	5	1	4	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:6925212C>T	ENST00000409757.4	+	2	220	c.96C>T	c.(94-96)caC>caT	p.H32H	TBC1D14_ENST00000448507.1_Silent_p.H32H	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	32						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ACCTGCAACACGTCAATCTCA	0.562													9	108					0	0	0	0	T	6925212	C	T	6925212	2	4	86	1	0	0	0	0	0	0	0	1	15694	535	19	1		1	TBC1D14	4	6925212	Silent	SNP	C	TCGA-CN-5367-01A-01D-1434-08		6925212	184229064	25	16450											
LAP3	51056	broad.mit.edu	37	chr4	17583958	17583958	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcaaaaaggcagctggAatcgacgaacaggaaaactg	16	4	12	9	3	0	0	0	0	0	0	2	4	0	2	0	4	3	3	0	4	6	0			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:17583958A>G	ENST00000226299.4	+	4	595	c.321A>G	c.(319-321)ggA>ggG	p.G107G	LAP3_ENST00000606142.1_Silent_p.G76G	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	107					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						AGGCAGCTGGAATCGACGAAC	0.438													3	24					0	0	0	0	G	17583958	A	G	17583958	2	3	86	1	0	0	0	0	0	0	0	1	8676	233	9	5		5	LAP3	4	17583958	Silent	SNP	A	TCGA-CN-5367-01A-01D-1434-08	10658746	17583958	173570318	26	16451											
EPHA5	2044	broad.mit.edu	37	chr4	66197778	66197778	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcccatcttgattgcctctAgccattcacctactgatctg	7	13	7	14	0	4	2	1	2	3	0	4	2	4	2	4	1	3	0	4	1	2	5			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:66197778A>T	ENST00000273854.3	-	17	3521	c.2921T>A	c.(2920-2922)cTa>cAa	p.L974Q	EPHA5_ENST00000511294.1_Missense_Mutation_p.L975Q|EPHA5_ENST00000432638.2_Missense_Mutation_p.L811Q|EPHA5_ENST00000354839.4_Missense_Mutation_p.L952Q	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	974	SAM.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GATTGCCTCTAGCCATTCACC	0.398										TSP Lung(17;0.13)			22	49					0	0	0	0	T	66197778	A	T	66197778	3	4	86	1	0	0	0	0	1	0	0	0	5208	420	15	5	200	5	EPHA5	4	66197778	Missense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08	48613820	66197778	124956498	27	16452											
CCRN4L	25819	broad.mit.edu	37	chr4	139964425	139964425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggttccagagggattttGtggatctgaggacagattgc	8	11	14	8	1	1	3	0	1	1	2	2	6	2	6	2	4	1	1	2	4	0	4			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:139964425G>A	ENST00000280614.2	+	2	581	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	130					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					GAGGGATTTTGTGGATCTGAG	0.547													34	130					0	0	0	0	A	139964425	G	A	139964425	3	1	86	1	0	0	0	0	1	0	0	0	2980	1377	48	4	394	4	CCRN4L	4	139964425	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	73766647	139964425	51189851	28	16453											
ZNF330	27309	broad.mit.edu	37	chr4	142147942	142147942	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaacaaagtgcatgatgaAgtcttcagactgtgtcataa	16	10	9	6	0	3	3	2	2	1	1	3	4	3	3	0	0	2	1	0	0	5	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:142147942A>C	ENST00000262990.4	+	5	461	c.233A>C	c.(232-234)aAg>aCg	p.K78T	ZNF330_ENST00000421169.2_Missense_Mutation_p.K18T	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	78						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					TGCATGATGAAGTCTTCAGAC	0.388													29	176					0	0	0	0	C	142147942	A	C	142147942	3	2	86	1	0	0	0	0	1	0	0	0	17943	72	3	5	247	5	ZNF330	4	142147942	Missense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08	2183517	142147942	49006334	29	16454											
H2AFY	9555	broad.mit.edu	37	chr5	134724631	134724631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcaggtattccaggacGgcggccatgtacacgggtgc	7	8	14	12	3	1	0	1	0	0	0	2	1	2	1	3	5	2	2	3	5	2	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr5:134724631G>A	ENST00000511689.1	-	2	746	c.153C>T	c.(151-153)gcC>gcT	p.A51A	H2AFY_ENST00000423969.2_Silent_p.A51A|H2AFY_ENST00000304332.4_Silent_p.A51A|H2AFY_ENST00000510038.1_Silent_p.A51A|H2AFY_ENST00000312469.4_Silent_p.A51A	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	51	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTCCAGGACGGCGGCCATGT	0.532													23	91					0	0	0	0	A	134724631	G	A	134724631	2	1	86	1	0	0	0	0	0	0	0	1	6979	1103	39	1		1	H2AFY	5	134724631	Silent	SNP	G	TCGA-CN-5367-01A-01D-1434-08		134724631	46190629	30	16455											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755360	140755360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccgccctccccacagaCggttccactggcgtggagct	6	7	10	18	3	0	1	0	0	0	1	2	2	2	2	6	3	2	2	6	3	1	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr5:140755360C>T	ENST00000517434.1	+	1	1710	c.1710C>T	c.(1708-1710)gaC>gaT	p.D570D	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.D570E(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCACAGACGGTTCCACTG	0.667													48	168					0	0	0	0	T	140755360	C	T	140755360	2	4	86	1	0	0	0	0	0	0	0	1	11629	535	19	1		1	PCDHGA6	5	140755360	Silent	SNP	C	TCGA-CN-5367-01A-01D-1434-08	6030729	140755360	40159900	31	16456											
LARP1	23367	broad.mit.edu	37	chr5	154179561	154179561	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattctgagaactggattGaagtgaagaagaggcctcgg	12	9	15	5	1	1	5	0	3	1	3	2	8	1	7	1	4	1	0	1	4	4	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr5:154179561G>T	ENST00000336314.4	+	10	1468	c.1444G>T	c.(1444-1446)Gaa>Taa	p.E482*		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	559	HTH La-type RNA-binding.						protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAACTGGATTGAAGTGAAGAA	0.577													20	58					7.45023e-12	8.19525e-12	1	0	T	154179561	G	T	154179561	4	4	86	1	0	0	0	0	0	1	0	0	8681	1291	45	2	1482	2	LARP1	5	154179561	Nonsense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	13424201	154179561	26735699	32	16457											
HIST1H2AG	8969	broad.mit.edu	37	chr6	27101004	27101004	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccggcgcgccggtgtatCtggcagcggtgctggagtac	4	7	19	11	5	1	0	0	0	1	0	1	1	1	1	2	6	3	4	2	6	2	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:27101004C>T	ENST00000359193.2	+	1	173	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	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						GCCGGTGTATCTGGCAGCGGT	0.677													14	51					0	0	0	0	T	27101004	C	T	27101004	2	4	86	1	0	0	0	0	0	0	0	1	7183	912	32	2		2	HIST1H2AG	6	27101004	Silent	SNP	C	TCGA-CN-5367-01A-01D-1434-08		27101004	144014063	33	16458											
NKAPL	222698	broad.mit.edu	37	chr6	28227211	28227211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctctcggagaaggcgacGcagctcctcggggagcccac	7	4	16	14	4	1	1	0	0	1	1	4	4	2	2	2	5	2	3	2	5	1	0			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:28227211G>A	ENST00000343684.3	+	1	114	c.62G>A	c.(61-63)cGc>cAc	p.R21H		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	21										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGAAGGCGACGCAGCTCCTCG	0.667													5	73					0	0	0	0	A	28227211	G	A	28227211	3	1	86	1	0	0	0	0	1	0	0	0	10510	1087	38	1	64	1	NKAPL	6	28227211	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	1126207	28227211	142887856	34	16459											
CD2AP	23607	broad.mit.edu	37	chr6	47471022	47471022	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccccttttttagttgactAtattgtggagtatgactatg	8	18	8	7	0	0	2	0	2	0	0	1	3	1	3	2	1	0	2	2	1	5	9			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:47471022A>G	ENST00000359314.5	+	2	467	c.11A>G	c.(10-12)tAt>tGt	p.Y4C		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	4	Interaction with ANLN and localization to the midbody.|SH3 1; truncated.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTAGTTGACTATATTGTGGAG	0.318													22	65					0	0	0	0	G	47471022	A	G	47471022	3	3	86	1	0	0	0	0	1	0	0	0	3023	449	16	5	17	5	CD2AP	6	47471022	Missense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08	19243811	47471022	123644045	35	16460											
OGFRL1	79627	broad.mit.edu	37	chr6	72011631	72011631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaacctgagaaaacagttaCtactcccacagaaaaaaagg	19	6	6	10	0	1	2	1	1	0	2	2	3	2	2	2	1	4	1	2	1	8	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:72011631C>T	ENST00000370435.4	+	7	1369	c.1235C>T	c.(1234-1236)aCt>aTt	p.T412I	RP11-154D6.1_ENST00000432050.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	412						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						AAAACAGTTACTACTCCCACA	0.423													34	72					0	0	0	0	T	72011631	C	T	72011631	3	4	86	1	0	0	0	0	1	0	0	0	10915	565	20	4	1261	4	OGFRL1	6	72011631	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	24540609	72011631	99103436	36	16461											
EPHA7	2045	broad.mit.edu	37	chr6	93982120	93982120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtactctctccttcattaCtccactcacttgcgagggag	8	12	7	14	1	3	0	2	0	1	0	6	2	5	1	2	1	3	1	2	1	2	4			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:93982120C>A	ENST00000369303.4	-	6	1529	c.1345G>T	c.(1345-1347)Gta>Tta	p.V449L		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	449	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCCTTCATTACTCCACTCACT	0.448													10	180					4.68919e-08	5.0499e-08	1	0	A	93982120	C	A	93982120	3	1	86	1	0	0	0	0	1	0	0	0	5210	565	20	4	1699	4	EPHA7	6	93982120	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	21970489	93982120	77132947	37	16462											
FIG4	9896	broad.mit.edu	37	chr6	110037703	110037703	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccgcttggatcttggaaAtagaacaaagatgggacaga	14	8	13	6	1	1	3	0	0	1	3	1	6	1	6	1	4	1	1	1	4	4	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:110037703A>G	ENST00000230124.3	+	3	345	c.221A>G	c.(220-222)aAt>aGt	p.N74S	FIG4_ENST00000441478.2_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	74					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GATCTTGGAAATAGAACAAAG	0.418													41	160					0	0	0	0	G	110037703	A	G	110037703	3	3	86	1	0	0	0	0	1	0	0	0	5933	101	4	5	231	5	FIG4	6	110037703	Missense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08	16055583	110037703	61077364	38	16463											
REV3L	5980	broad.mit.edu	37	chr6	111689218	111689218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttctaccatgaggagccGtccaccaatctccctataat	11	11	6	13	1	2	1	0	1	2	0	4	2	3	2	5	1	2	1	5	1	4	4			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:111689218G>A	ENST00000435970.1	-	16	6355	c.5539C>T	c.(5539-5541)Cgg>Tgg	p.R1847W	REV3L_ENST00000368805.1_Missense_Mutation_p.R1925W|REV3L_ENST00000358835.3_Missense_Mutation_p.R1925W|REV3L_ENST00000368802.3_Missense_Mutation_p.R1925W			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1925	Mediates interaction with MAD2L2.				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATGAGGAGCCGTCCACCAATC	0.388								DNA polymerases (catalytic subunits)					15	59					0	0	0	0	A	111689218	G	A	111689218	3	1	86	1	0	0	0	0	1	0	0	0	13322	1144	40	1	3695	1	REV3L	6	111689218	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	1651515	111689218	59425849	39	16464											
VTA1	51534	broad.mit.edu	37	chr6	142525136	142525136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcaggtgtagcaagtaatActatccaacctactccacag	13	10	7	11	0	0	0	0	0	0	0	2	0	2	0	3	1	5	4	3	1	7	6			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:142525136A>G	ENST00000367630.4	+	7	770	c.712A>G	c.(712-714)Act>Gct	p.T238A	VTA1_ENST00000367621.1_Missense_Mutation_p.T180A|VTA1_ENST00000452973.2_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	238	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		AGCAAGTAATACTATCCAACC	0.383													14	89					0	0	0	0	G	142525136	A	G	142525136	3	3	86	1	0	0	0	0	1	0	0	0	17329	391	14	5	738	5	VTA1	6	142525136	Missense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08	30835918	142525136	28589931	40	16465											
DNAH11	8701	broad.mit.edu	37	chr7	21747448	21747448	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacccgagaatggaaagaTggcaagtagtatttcccctt	12	10	10	9	1	0	2	0	0	0	2	1	4	1	3	3	2	1	4	3	2	6	5			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:21747448T>C	ENST00000328843.6	+	41	6730	c.6699T>C	c.(6697-6699)gaT>gaC	p.D2233D	DNAH11_ENST00000409508.3_Silent_p.D2226D			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2233	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATGGAAAGATGGCAAGTAGT	0.388									Kartagener syndrome				22	39					0	0	0	0	C	21747448	T	C	21747448	2	2	86	1	0	0	0	0	0	0	0	1	4636	1461	51	5		5	DNAH11	7	21747448	Silent	SNP	T	TCGA-CN-5367-01A-01D-1434-08		21747448	137391215	41	16466											
PCLO	27445	broad.mit.edu	37	chr7	82582565	82582565	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttggaaaatcttggtgaAgacttgttggagtgtgggga	10	13	16	2	0	1	2	0	1	1	1	1	6	1	5	0	5	0	1	0	5	3	4			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:82582565A>C	ENST00000423517.2	-	5	8041	c.7704T>G	c.(7702-7704)tcT>tcG	p.S2568S	PCLO_ENST00000333891.8_Silent_p.S2568S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2499					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTTGGTGAAGACTTGTTGG	0.403													53	135					0	0	0	0	C	82582565	A	C	82582565	2	2	86	1	0	0	0	0	0	0	0	1	11654	59	3	5		5	PCLO	7	82582565	Silent	SNP	A	TCGA-CN-5367-01A-01D-1434-08	60835117	82582565	76556098	42	16467											
CLDN15	24146	broad.mit.edu	37	chr7	100876196	100876196	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccatcccgcagatacCtggggaccggaggacgaccc	9	3	13	16	3	0	1	0	0	0	1	1	5	1	4	6	5	1	1	6	5	1	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:100876196C>A	ENST00000401528.1	-	4	1508		c.e4-1		CLDN15_ENST00000308344.5_Splice_Site	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15						calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CCGCAGATACCTGGGGACCGG	0.652													3	23					2.56e-06	2.70027e-06	1	0	A	100876196	C	A	100876196	5	1	86	1	0	0	0	0	0	0	1	0	3506	695	24	4	316	4	CLDN15	7	100876196	Splice_Site	SNP	C	TCGA-CN-5367-01A-01D-1434-08	18293631	100876196	58262467	43	16468											
MYL10	93408	broad.mit.edu	37	chr7	101256788	101256788	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgtgagtgatgacgtaGcacaggtttctgtagtccag	9	11	12	9	2	2	3	1	3	1	0	3	3	3	3	2	1	1	4	2	1	2	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:101256788G>C	ENST00000223167.4	-	8	825	c.648C>G	c.(646-648)tgC>tgG	p.C216W		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	216	EF-hand 3.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TGATGACGTAGCACAGGTTTC	0.547													6	143					0	0	0	0	C	101256788	G	C	101256788	3	2	86	1	0	0	0	0	1	0	0	0	10114	963	34	4	36	4	MYL10	7	101256788	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	380592	101256788	57881875	44	16469											
FEZF1	389549	broad.mit.edu	37	chr7	121942225	121942225	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgtgcagcttgcggacAtgcttcttgaggtcaaagtt	7	13	12	9	2	2	1	1	1	1	0	3	2	2	2	0	2	4	4	0	2	1	4			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:121942225A>G	ENST00000442488.2	-	4	1321	c.1254T>C	c.(1252-1254)caT>caC	p.H418H	FEZF1_ENST00000427185.2_Silent_p.H368H|FEZF1_ENST00000331178.4_Silent_p.H414H	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	418					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCTTGCGGACATGCTTCTTGA	0.632													8	104					0	0	0	0	G	121942225	A	G	121942225	2	3	86	1	0	0	0	0	0	0	0	1	5870	214	8	5		5	FEZF1	7	121942225	Silent	SNP	A	TCGA-CN-5367-01A-01D-1434-08	20685437	121942225	37196438	45	16470											
EXOC4	60412	broad.mit.edu	37	chr7	133682355	133682355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttccaggatatggctgacCgctgcttgcttgtcttacat	6	14	10	11	2	1	1	0	1	1	0	2	2	2	2	2	2	3	5	2	2	2	5			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:133682355C>T	ENST00000253861.4	+	15	2346	c.2317C>T	c.(2317-2319)Cgc>Tgc	p.R773C	EXOC4_ENST00000545148.1_Missense_Mutation_p.R383C|EXOC4_ENST00000541309.1_Missense_Mutation_p.R61C|EXOC4_ENST00000539845.1_Missense_Mutation_p.R672C	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	773					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TATGGCTGACCGCTGCTTGCT	0.488													10	30					0	0	0	0	T	133682355	C	T	133682355	3	4	86	1	0	0	0	0	1	0	0	0	5343	652	23	1	2384	1	EXOC4	7	133682355	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	11740130	133682355	25456308	46	16471											
TTC26	79989	broad.mit.edu	37	chr7	138827003	138827003	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttggatttttttttcagcTtcaaaaagccgactccaaaa	12	14	6	9	1	2	0	2	0	0	0	3	2	3	1	2	1	2	2	2	1	4	6			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:138827003T>C	ENST00000464848.1	+	5	431	c.349_splice	c.e5-1	p.A117_splice	TTC26_ENST00000474035.2_Splice_Site_p.A117_splice|TTC26_ENST00000495038.1_Splice_Site_p.A117_splice|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000478836.2_Splice_Site_p.A117_splice|TTC26_ENST00000430935.1_Splice_Site_p.A117_splice|TTC26_ENST00000343187.4_Splice_Site_p.A86_splice			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	117							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TTTTTTCAGCTTCAAAAAGCC	0.353													40	106					0	0	0	0	C	138827003	T	C	138827003	5	2	86	1	0	0	0	0	0	0	1	0	16790	1623	56	5	369	5	TTC26	7	138827003	Splice_Site	SNP	T	TCGA-CN-5367-01A-01D-1434-08	5144648	138827003	20311660	47	16472											
MGAM	8972	broad.mit.edu	37	chr7	141708357	141708357	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggacaactggtacccCagatcctggaacaactggta	11	8	10	12	0	0	1	0	0	0	1	2	3	2	3	4	4	4	2	4	4	5	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:141708357C>G	ENST00000475668.2	+	3	233	c.179C>G	c.(178-180)cCa>cGa	p.P60R	MGAM_ENST00000549489.2_Missense_Mutation_p.P60R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	60	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTGGTACCCCAGATCCTGGA	0.483													12	29					0	0	0	0	G	141708357	C	G	141708357	3	3	86	1	0	0	0	0	1	0	0	0	9610	594	21	4	185	4	MGAM	7	141708357	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	2881354	141708357	17430306	48	16473											
PRKDC	5591	broad.mit.edu	37	chr8	48868498	48868498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatcttttgtataaacactgGtacaagtgttctaggtttta	11	18	7	5	0	2	0	0	0	2	0	2	0	2	0	0	2	2	4	0	2	8	10			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr8:48868498G>A	ENST00000314191.2	-	4	391	c.335C>T	c.(334-336)aCc>aTc	p.T112I	PRKDC_ENST00000338368.3_Missense_Mutation_p.T112I|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	112					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATAAACACTGGTACAAGTGTT	0.308								Non-homologous end-joining					4	32					0	0	0	0	A	48868498	G	A	48868498	3	1	86	1	0	0	0	0	1	0	0	0	12601	1261	44	4	12382	4	PRKDC	8	48868498	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08		48868498	97495524	49	16474											
SLCO5A1	81796	broad.mit.edu	37	chr8	70667779	70667779	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagaaaattttttcttttTctttttcttgtgtcgaggtg	8	21	7	5	1	3	1	0	0	3	1	4	2	3	1	0	1	1	0	0	1	3	8			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr8:70667779T>C	ENST00000260126.3	-	4	1844	c.1138A>G	c.(1138-1140)Aaa>Gaa	p.K380E	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K380E|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K380E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	380	Poly-Lys.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTTTTCTTTTTCTTTTTCTTG	0.383													8	105					0	0	0	0	C	70667779	T	C	70667779	3	2	86	1	0	0	0	0	1	0	0	0	14819	1792	62	5	1436	5	SLCO5A1	8	70667779	Missense_Mutation	SNP	T	TCGA-CN-5367-01A-01D-1434-08	21799281	70667779	75696243	50	16475											
HNRNPK	3190	broad.mit.edu	37	chr9	86587824	86587824	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgggttttcctccaataaGaacaactctgtcagtggaat	12	12	8	9	1	2	1	1	0	1	1	5	2	4	2	2	2	2	1	2	2	5	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr9:86587824G>C	ENST00000376263.3	-	10	803	c.580C>G	c.(580-582)Ctt>Gtt	p.L194V	HNRNPK_ENST00000376264.2_Missense_Mutation_p.L194V|HNRNPK_ENST00000351839.3_Missense_Mutation_p.L194V|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376281.4_Missense_Mutation_p.L194V|HNRNPK_ENST00000360384.5_Missense_Mutation_p.L194V	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	194	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 2.|Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCTCCAATAAGAACAACTCTG	0.343													10	116					0	0	0	0	C	86587824	G	C	86587824	3	2	86	1	0	0	0	0	1	0	0	0	7319	942	33	2	881	2	HNRNPK	9	86587824	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08		86587824	54625607	51	16476											
ZNF462	58499	broad.mit.edu	37	chr9	109688535	109688535	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaaacatcacccacgattAcaatgccaccaatggggctg	14	6	8	13	1	1	1	1	0	0	1	1	2	1	1	3	2	3	1	3	2	4	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr9:109688535A>G	ENST00000277225.5	+	3	2631	c.2342A>G	c.(2341-2343)tAc>tGc	p.Y781C	ZNF462_ENST00000457913.1_Missense_Mutation_p.Y781C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	781					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACCCACGATTACAATGCCACC	0.448													6	99					0	0	0	0	G	109688535	A	G	109688535	3	3	86	1	0	0	0	0	1	0	0	0	18021	391	14	5	2348	5	ZNF462	9	109688535	Missense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08	23100711	109688535	31524896	52	16477											
LPAR1	1902	broad.mit.edu	37	chr9	113703901	113703901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcactgtagaggggtgccAtgttggaacaattttcaata	12	12	11	6	0	2	1	2	0	0	1	2	2	2	2	1	3	2	2	1	3	5	5			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr9:113703901A>G	ENST00000374431.3	-	4	976	c.593T>C	c.(592-594)aTg>aCg	p.M198T	LPAR1_ENST00000374430.2_Missense_Mutation_p.M198T|LPAR1_ENST00000541779.1_Missense_Mutation_p.M199T|LPAR1_ENST00000538760.1_Missense_Mutation_p.M199T|LPAR1_ENST00000358883.4_Missense_Mutation_p.M198T	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	198					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GAGGGGTGCCATGTTGGAACA	0.458													90	67					0	0	0	0	G	113703901	A	G	113703901	3	3	86	1	0	0	0	0	1	0	0	0	8968	217	8	5	509	5	LPAR1	9	113703901	Missense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08	4015366	113703901	27509530	53	16478											
C9orf172	389813	broad.mit.edu	37	chr9	139739061	139739062	+	Frame_Shift_Ins	INS	-	-	A																															tggacgggccggccatggagINSaccctgccggagccaccgcc																										TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr9:139739061_139739062insA	ENST00000436881.1	+	1	195_196	c.195_196insA	c.(193-198)gaccctfs	p.D65fs		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	65										endometrium(2)|large_intestine(1)|lung(6)	9						CGGCCATGGAGACCCTGCCGGA	0.762													5	4	---	---	---	---					A	139739062	-	A	139739061	7	5	86	1	0	1	1	0	0	0	0	0	2496	933	33	0	197	0	C9orf172	9	139739061	Frame_Shift_Ins	INS	-	TCGA-CN-5367-01A-01D-1434-08	26035160	139739061	1474370	54	16479											
CUBN	8029	broad.mit.edu	37	chr10	17061945	17061945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggagggggcaggtctactCcacagtagcgtcccatctgc	7	8	13	13	1	2	0	0	0	2	0	4	1	4	1	2	4	3	2	2	4	2	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr10:17061945C>T	ENST00000377833.4	-	28	4120	c.4055G>A	c.(4054-4056)gGa>gAa	p.G1352E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1352	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGGTCTACTCCACAGTAGCG	0.493													14	59					0	0	0	0	T	17061945	C	T	17061945	3	4	86	1	0	0	0	0	1	0	0	0	4083	855	30	2	6976	2	CUBN	10	17061945	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08		17061945	118472802	55	16480											
WAPAL	23063	broad.mit.edu	37	chr10	88227232	88227232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacgatctctactcagtataTacatgagggcagctgtacag	13	10	9	9	1	2	1	1	1	1	0	3	2	2	1	0	1	5	4	0	1	6	5			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr10:88227232T>C	ENST00000298767.5	-	9	2646	c.2174A>G	c.(2173-2175)tAt>tGt	p.Y725C	WAPAL_ENST00000372075.1_5'UTR|WAPAL_ENST00000263070.7_5'UTR	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	725	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						ACTCAGTATATACATGAGGGC	0.388													14	49					0	0	0	0	C	88227232	T	C	88227232	3	2	86	1	0	0	0	0	1	0	0	0	17344	1406	49	5	1442	5	WAPAL	10	88227232	Missense_Mutation	SNP	T	TCGA-CN-5367-01A-01D-1434-08	71165287	88227232	47307515	56	16481											
CEP55	55165	broad.mit.edu	37	chr10	95287808	95287808	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaaaaagtcccactgcTgcactcaatgaaagcctggt	13	8	7	13	0	2	1	2	1	0	0	3	1	3	1	3	1	3	2	3	1	4	0			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr10:95287808T>C	ENST00000371485.3	+	9	1597	c.1293T>C	c.(1291-1293)gcT>gcC	p.A431A		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	431	Required for localization to the interphase centrosome and to the midbody during cytokinesis.				cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GTCCCACTGCTGCACTCAATG	0.463													23	64					0	0	0	0	C	95287808	T	C	95287808	2	2	86	1	0	0	0	0	0	0	0	1	3284	1567	55	5		5	CEP55	10	95287808	Silent	SNP	T	TCGA-CN-5367-01A-01D-1434-08	7060576	95287808	40246939	57	16482											
MUC5B	727897	broad.mit.edu	37	chr11	1274140	1274140	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtggccaacgtcacctgCgtgaacaagcacctgcccat	9	7	9	16	2	1	1	1	1	0	0	1	1	1	1	5	1	5	1	5	1	3	0			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:1274140C>G	ENST00000447027.1	+	33	15214	c.15156C>G	c.(15154-15156)tgC>tgG	p.C5052W	MUC5B_ENST00000529681.1_Missense_Mutation_p.C5049W			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5049					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGTCACCTGCGTGAACAAGC	0.617													6	33					0	0	0	0	G	1274140	C	G	1274140	3	3	86	1	0	0	0	0	1	0	0	0	10049	776	27	3	15286	3	MUC5B	11	1274140	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08		1274140	133732376	58	16483											
OR10A3	26496	broad.mit.edu	37	chr11	7960501	7960501	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaataagaaggtgtctgcAcacacaagctctagtaccgg	14	8	9	10	1	3	1	1	0	2	1	3	1	3	1	1	2	3	3	1	2	6	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:7960501A>G	ENST00000360759.3	-	1	640	c.567T>C	c.(565-567)tgT>tgC	p.C189C		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGTGTCTGCACACACAAGCT	0.418													5	95					0	0	0	0	G	7960501	A	G	7960501	2	3	86	1	0	0	0	0	0	0	0	1	10962	157	6	5		5	OR10A3	11	7960501	Silent	SNP	A	TCGA-CN-5367-01A-01D-1434-08	6686361	7960501	127046015	59	16484											
PDE3B	5140	broad.mit.edu	37	chr11	14853185	14853185	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgtttccctgtatgtacaGattgaacaggaagtatcact	11	14	9	7	0	1	2	1	1	0	1	2	3	2	3	1	1	2	5	1	1	5	6			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:14853185G>C	ENST00000282096.4	+	9	2309		c.e9-1		PDE3B_ENST00000455098.2_Splice_Site	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited						cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGTATGTACAGATTGAACAGG	0.279													33	62					0	0	0	0	C	14853185	G	C	14853185	5	2	86	1	0	0	0	0	0	0	1	0	11709	956	33	2	1990	2	PDE3B	11	14853185	Splice_Site	SNP	G	TCGA-CN-5367-01A-01D-1434-08	6892684	14853185	120153331	60	16485											
DDB1	1642	broad.mit.edu	37	chr11	61097015	61097015	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccggcactcagggtcaatGatgccaataatgccggtctc	10	9	10	12	2	3	1	2	1	1	0	5	1	4	1	3	3	2	1	3	3	3	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:61097015G>T	ENST00000301764.7	-	4	766	c.369C>A	c.(367-369)atC>atA	p.I123I	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	123	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGGGTCAATGATGCCAATAA	0.498								Nucleotide excision repair (NER)					9	14					0.000274275	0.000283479	1	0	T	61097015	G	T	61097015	2	4	86	1	0	0	0	0	0	0	0	1	4355	1280	45	2		2	DDB1	11	61097015	Silent	SNP	G	TCGA-CN-5367-01A-01D-1434-08	46243830	61097015	73909501	61	16486											
SCYL1	57410	broad.mit.edu	37	chr11	65303563	65303563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcccagaagatcctgcCtgtgctctgcggtctcactg	5	11	11	14	1	2	2	1	0	2	2	4	2	3	2	3	1	4	1	3	1	1	0			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:65303563C>T	ENST00000524944.1	+	11	1559	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	SCYL1_ENST00000533862.1_Missense_Mutation_p.P509L|SCYL1_ENST00000527009.1_Missense_Mutation_p.P366L|SCYL1_ENST00000420247.2_Missense_Mutation_p.P509L|SCYL1_ENST00000525364.1_Missense_Mutation_p.P509L|SCYL1_ENST00000279270.6_Missense_Mutation_p.P509L|SCYL1_ENST00000270176.5_Missense_Mutation_p.P509L|SCYL1_ENST00000527630.1_Missense_Mutation_p.P509L			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	509					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						AAGATCCTGCCTGTGCTCTGC	0.617													39	71					0	0	0	0	T	65303563	C	T	65303563	3	4	86	1	0	0	0	0	1	0	0	0	14034	681	24	4	1568	4	SCYL1	11	65303563	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	4206548	65303563	69702953	62	16487											
TCIRG1	10312	broad.mit.edu	37	chr11	67811734	67811734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcagcgtgagcaccacgCacaagtgcctcattgccgag	10	6	12	13	3	1	1	1	1	0	0	1	2	1	1	3	0	5	3	3	0	1	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:67811734C>T	ENST00000265686.3	+	9	1051	c.943C>T	c.(943-945)Cac>Tac	p.H315Y	TCIRG1_ENST00000532635.1_Missense_Mutation_p.H99Y	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	315					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GAGCACCACGCACAAGTGCCT	0.687													4	31					0	0	0	0	T	67811734	C	T	67811734	3	4	86	1	0	0	0	0	1	0	0	0	15797	710	25	4	973	4	TCIRG1	11	67811734	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	2508171	67811734	67194782	63	16488											
GRIA4	2893	broad.mit.edu	37	chr11	105782630	105782630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaatcctattttaagaaAttgatcaagaaagaaaagag	21	9	8	3	0	1	6	1	1	0	5	2	7	2	6	1	0	0	0	1	0	9	4			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:105782630A>G	ENST00000393125.2	+	11	1788	c.1298A>G	c.(1297-1299)aAt>aGt	p.N433S	GRIA4_ENST00000428631.2_Missense_Mutation_p.N433S|GRIA4_ENST00000393127.2_Intron|GRIA4_ENST00000525187.1_Intron|GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000282499.5_Intron	NM_001077244.1	NP_001070712.1	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	0					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATTTTAAGAAATTGATCAAGA	0.353													46	925					0	0	0	0	G	105782630	A	G	105782630	3	3	86	1	0	0	0	0	1	0	0	0	6820	101	4	5	1336	5	GRIA4	11	105782630	Missense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08	37970896	105782630	29223886	64	16489											
GUCY1A2	2977	broad.mit.edu	37	chr11	106681089	106681089	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcatggatagggatgtctGagagatgtagccctcggccc	9	9	13	10	1	2	2	1	1	1	1	3	5	2	4	2	3	1	1	2	3	2	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:106681089G>C	ENST00000526355.1	-	5	1790	c.1322C>G	c.(1321-1323)tCa>tGa	p.S441*	GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.S441*|GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.S462*	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	441					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGGGATGTCTGAGAGATGTAG	0.453													135	1056					0	0	0	0	C	106681089	G	C	106681089	4	2	86	1	0	0	0	0	0	1	0	0	6943	1294	45	2	892	2	GUCY1A2	11	106681089	Nonsense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	898459	106681089	28325427	65	16490											
GUCY1A2	2977	broad.mit.edu	37	chr11	106681158	106681158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagagcccaaaaataaaatgGaatttgattctggaacatgg	17	9	10	5	0	1	2	0	1	1	1	1	5	1	4	1	3	2	0	1	3	6	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:106681158G>T	ENST00000526355.1	-	5	1721	c.1253C>A	c.(1252-1254)tCc>tAc	p.S418Y	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S418Y|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S439Y	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	418					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AAATAAAATGGAATTTGATTC	0.423													94	916					7.49063e-41	8.48204e-41	1	0	T	106681158	G	T	106681158	3	4	86	1	0	0	0	0	1	0	0	0	6943	1174	41	2	961	2	GUCY1A2	11	106681158	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	69	106681158	28325358	66	16491											
FXYD2	486	broad.mit.edu	37	chr11	117695379	117695379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacactcaccaccgtccatCgacaacccagtcatttcccc	10	7	4	20	2	2	0	2	0	0	0	5	1	4	0	6	0	1	1	6	0	1	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:117695379C>T	ENST00000292079.2	-	1	80	c.15G>A	c.(13-15)tcG>tcA	p.S5S	FXYD2_ENST00000532119.1_Intron|FXYD6-FXYD2_ENST00000532984.1_Intron|FXYD2_ENST00000260287.2_Intron|FXYD2_ENST00000528014.1_Intron	NM_001680.4	NP_001671.2			FXYD domain containing ion transport regulator 2											breast(1)|kidney(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114)		CACCGTCCATCGACAACCCAG	0.612													10	24					0	0	0	0	T	117695379	C	T	117695379	2	4	86	1	0	0	0	0	0	0	0	1	6166	871	31	1		1	FXYD2	11	117695379	Silent	SNP	C	TCGA-CN-5367-01A-01D-1434-08	11014221	117695379	17311137	67	16492											
VWF	7450	broad.mit.edu	37	chr12	6094236	6094236	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatactcggggcagcactgGtctgcattctggcggaggcg	6	9	15	11	3	3	0	1	0	2	0	4	1	3	1	0	6	3	3	0	6	1	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:6094236G>C	ENST00000261405.5	-	40	7205	c.6951C>G	c.(6949-6951)gaC>gaG	p.D2317E		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2317	VWFC 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGCAGCACTGGTCTGCATTCT	0.597													24	101					0	0	0	0	C	6094236	G	C	6094236	3	2	86	1	0	0	0	0	1	0	0	0	17342	1252	44	4	1542	4	VWF	12	6094236	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08		6094236	127757659	68	16493											
MANSC1	54682	broad.mit.edu	37	chr12	12496065	12496065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcaagaattaatgcagtCttcttgagttgaagtatata	15	13	8	5	0	2	3	0	2	2	1	2	3	2	3	0	0	2	4	0	0	7	7			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:12496065C>G	ENST00000535902.1	-	2	747	c.184G>C	c.(184-186)Gac>Cac	p.D62H	MANSC1_ENST00000396349.3_Missense_Mutation_p.D28H			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	62	MANSC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTAATGCAGTCTTCTTGAGTT	0.403													4	171					0	0	0	0	G	12496065	C	G	12496065	3	3	86	1	0	0	0	0	1	0	0	0	9293	913	32	2	1123	2	MANSC1	12	12496065	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	6401829	12496065	121355830	69	16494											
PTPRO	5800	broad.mit.edu	37	chr12	15668508	15668508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtaatatacctaaggaaagGccctttgattggaccacctt	12	12	8	9	0	0	1	0	1	0	0	0	3	0	3	4	3	1	1	4	3	5	7			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:15668508G>A	ENST00000281171.4	+	8	1871	c.1541G>A	c.(1540-1542)gGc>gAc	p.G514D	PTPRO_ENST00000543886.1_Missense_Mutation_p.G514D|PTPRO_ENST00000348962.2_Missense_Mutation_p.G514D	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	514						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CTAAGGAAAGGCCCTTTGATT	0.413													31	104					0	0	0	0	A	15668508	G	A	15668508	3	1	86	1	0	0	0	0	1	0	0	0	12891	1203	42	4	1571	4	PTPRO	12	15668508	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	3172443	15668508	118183387	70	16495											
SMUG1	23583	broad.mit.edu	37	chr12	54576179	54576179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtaaggttgcgcccgctggGagccaggaaaagcagagggc	11	4	17	9	2	0	1	0	0	0	1	0	3	0	3	2	4	3	4	2	4	3	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:54576179G>A	ENST00000508394.2	-	3	576	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S	SMUG1_ENST00000337581.3_Missense_Mutation_p.P172S|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000401977.2_Missense_Mutation_p.P172S|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000243112.5_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	172				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						CGCCCGCTGGGAGCCAGGAAA	0.577								Base excision repair (BER), DNA glycosylases					6	122					0	0	0	0	A	54576179	G	A	54576179	3	1	86	1	0	0	0	0	1	0	0	0	14906	1174	41	2	302	2	SMUG1	12	54576179	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	38907671	54576179	79275716	71	16496											
KERA	11081	broad.mit.edu	37	chr12	91449227	91449227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagatgagcactgattcgggGaacctttgtgagttgattgt	9	13	13	6	1	0	5	0	4	0	1	1	6	0	6	1	2	2	2	1	2	1	4			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:91449227G>T	ENST00000266719.3	-	2	1079	c.832C>A	c.(832-834)Ccc>Acc	p.P278T		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	278					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CTGATTCGGGGAACCTTTGTG	0.408													33	104					1.04352e-10	1.13973e-10	1	0	T	91449227	G	T	91449227	3	4	86	1	0	0	0	0	1	0	0	0	8195	1174	41	2	234	2	KERA	12	91449227	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	36873048	91449227	42402668	72	16497											
DCN	1634	broad.mit.edu	37	chr12	91558464	91558464	+	Frame_Shift_Del	DEL	G	G	-																															ggtctagcagagttgtgtcaGggggaagatcctttggcact																										TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:91558464delG	ENST00000052754.5	-	3	743	c.242delC	c.(241-243)ctfs	p.P81fs	DCN_ENST00000552962.1_Frame_Shift_Del_p.P81fs|DCN_ENST00000393155.1_Frame_Shift_Del_p.P81fs|DCN_ENST00000420120.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000441303.2_Frame_Shift_Del_p.P81fs|DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Frame_Shift_Del_p.P81fs|DCN_ENST00000547568.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	81					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AGTTGTGTCAGGGGGAAGATC	0.403													10	75	---	---	---	---					-	91558464	G	-	91558464	7	5	86	1	0	1	0	1	0	0	0	0	4329	1000	35	0	861	0	DCN	12	91558464	Frame_Shift_Del	DEL	G	TCGA-CN-5367-01A-01D-1434-08	109237	91558464	42293431	73	16498											
ZMYM2	7750	broad.mit.edu	37	chr13	20641120	20641120	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgggtcaaaactaggcaaCttgatgaagatcttctggta	13	11	10	7	0	3	3	1	2	2	1	3	3	3	3	0	3	2	2	0	3	6	4			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr13:20641120C>G	ENST00000382869.3	+	20	3513	c.3262C>G	c.(3262-3264)Ctt>Gtt	p.L1088V	ZMYM2_ENST00000382871.2_Missense_Mutation_p.L1088V|ZMYM2_ENST00000382874.2_Missense_Mutation_p.L1088V|ZMYM2_ENST00000382870.2_Missense_Mutation_p.L468V|ZMYM2_ENST00000494061.1_3'UTR	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1088					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AACTAGGCAACTTGATGAAGA	0.338													5	66					0	0	0	0	G	20641120	C	G	20641120	3	3	86	1	0	0	0	0	1	0	0	0	17795	565	20	4	3332	4	ZMYM2	13	20641120	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08		20641120	94528758	74	16499											
PCDH9	5101	broad.mit.edu	37	chr13	67800747	67800747	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgtcatttagaatggaaAgagtcacagctttattctct	12	15	7	7	0	3	2	2	0	1	2	4	3	3	3	0	1	1	1	0	1	4	6			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr13:67800747A>G	ENST00000544246.1	-	2	2517	c.1826T>C	c.(1825-1827)cTt>cCt	p.L609P	PCDH9_ENST00000377861.3_Missense_Mutation_p.L609P|PCDH9_ENST00000377865.2_Missense_Mutation_p.L609P|PCDH9_ENST00000328454.5_Missense_Mutation_p.L609P|PCDH9_ENST00000456367.1_Missense_Mutation_p.L609P	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	609	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAGAATGGAAAGAGTCACAGC	0.383													13	147					0	0	0	0	G	67800747	A	G	67800747	3	3	86	1	0	0	0	0	1	0	0	0	11589	72	3	5	1903	5	PCDH9	13	67800747	Missense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08	47159627	67800747	47369131	75	16500											
ATP11A	23250	broad.mit.edu	37	chr13	113460594	113460594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctttgtcattactgtgaCggctatcaaacaggtaagca	11	13	8	9	1	3	1	2	1	1	0	3	1	3	1	0	2	3	3	0	2	4	5			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr13:113460594C>T	ENST00000487903.1	+	4	408	c.320C>T	c.(319-321)aCg>aTg	p.T107M	ATP11A_ENST00000283558.8_Missense_Mutation_p.T107M|ATP11A_ENST00000375630.2_Missense_Mutation_p.T107M|ATP11A_ENST00000375645.3_Missense_Mutation_p.T107M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	107					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATTACTGTGACGGCTATCAAA	0.398													32	138					0	0	0	0	T	113460594	C	T	113460594	3	4	86	1	0	0	0	0	1	0	0	0	1123	536	19	1	334	1	ATP11A	13	113460594	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	45659847	113460594	1709284	76	16501											
FBXO33	254170	broad.mit.edu	37	chr14	39871062	39871078	+	Splice_Site	DEL	AATTCTATAAGGAAAAC	AATTCTATAAGGAAAAC	-																															atttcttcaaacagttgctgAattctataaggaaaacacat																										TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr14:39871062_39871078delAATTCTATAAGGAAAAC	ENST00000298097.7	-	3	1048_1051	c.710_splice	c.e3-1	p.237_splice	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	237										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		ACAGTTGCTGAATTCTATAAGGAAAACACATGCCACA	0.364													22	85	---	---	---	---					-	39871078	AATTCTATAAGGAAAAC	-	39871062	8	5	86	1	0	1	0	1	0	0	1	0	5788	242	9	0	961	0	FBXO33	14	39871062	Splice_Site	DEL	AATTCTATAAGGAAAAC	TCGA-CN-5367-01A-01D-1434-08		39871062	67478478	77	16502											
PCNX	22990	broad.mit.edu	37	chr14	71444274	71444274	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaagtgagcagaccagctCaactcacatagagagcatcc	16	6	8	11	0	2	3	2	1	0	2	3	4	3	3	2	0	4	3	2	0	4	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr14:71444274C>G	ENST00000304743.2	+	6	1666	c.1220C>G	c.(1219-1221)tCa>tGa	p.S407*	PCNX_ENST00000238570.5_Nonsense_Mutation_p.S407*|PCNX_ENST00000439984.3_Nonsense_Mutation_p.S407*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	407						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGACCAGCTCAACTCACATA	0.512													4	135					0	0	0	0	G	71444274	C	G	71444274	4	3	86	1	0	0	0	0	0	1	0	0	11662	838	29	2	1242	2	PCNX	14	71444274	Nonsense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	31573212	71444274	35905266	78	16503											
CLMN	79789	broad.mit.edu	37	chr14	95670064	95670064	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacagtcatcaggttaaccTtgatctggaaggaatcggcc	11	10	10	10	1	3	1	2	1	1	0	4	3	3	3	2	4	2	1	2	4	4	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr14:95670064T>A	ENST00000298912.4	-	9	1735	c.1622A>T	c.(1621-1623)aAg>aTg	p.K541M		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	541						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CAGGTTAACCTTGATCTGGAA	0.433													12	156					0	0	0	0	A	95670064	T	A	95670064	3	1	86	1	0	0	0	0	1	0	0	0	3572	1609	56	5	1406	5	CLMN	14	95670064	Missense_Mutation	SNP	T	TCGA-CN-5367-01A-01D-1434-08	24225790	95670064	11679476	79	16504											
HSP90AA1	3320	broad.mit.edu	37	chr14	102548742	102548742	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccatatgtgcttgtgacaaTacagcatggagatgtcacca	12	10	10	9	0	1	2	1	1	0	1	1	3	1	2	2	1	3	2	2	1	3	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr14:102548742T>C	ENST00000334701.7	-	11	2442	c.2161A>G	c.(2161-2163)Att>Gtt	p.I721V	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.I599V	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	599	Required for homodimerization.				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CTTGTGACAATACAGCATGGA	0.408													14	89					0	0	0	0	C	102548742	T	C	102548742	3	2	86	1	0	0	0	0	1	0	0	0	7453	1406	49	5	411	5	HSP90AA1	14	102548742	Missense_Mutation	SNP	T	TCGA-CN-5367-01A-01D-1434-08	6878678	102548742	4800798	80	16505											
GPR176	11245	broad.mit.edu	37	chr15	40093986	40093986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgagcagcaagaagaCggaagtgtcagggacattga	15	5	15	6	1	1	4	1	2	0	2	1	6	1	6	0	2	3	3	0	2	3	1	rs139843045	byFrequency	TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr15:40093986C>T	ENST00000299092.3	-	4	1090	c.892G>A	c.(892-894)Gtc>Atc	p.V298I	GPR176_ENST00000543580.1_Missense_Mutation_p.V254I|GPR176_ENST00000561100.1_Missense_Mutation_p.V299I	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	299					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGCAAGAAGACGGAAGTGTCA	0.532											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	56					0	0	0	0	T	40093986	C	T	40093986	3	4	86	1	0	0	0	0	1	0	0	0	6722	536	19	1	656	1	GPR176	15	40093986	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08		40093986	62437406	81	16506											
HERC1	8925	broad.mit.edu	37	chr15	64067317	64067317	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtcttagaagcgcaaatAataaacttagaccagttcga	15	12	7	7	2	1	2	0	0	1	2	2	3	1	2	1	0	2	2	1	0	7	6			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr15:64067317A>C	ENST00000443617.2	-	2	593	c.506T>G	c.(505-507)tTa>tGa	p.L169*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	169					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AAGCGCAAATAATAAACTTAG	0.448													8	378					0	0	0	0	C	64067317	A	C	64067317	4	2	86	1	0	0	0	0	0	1	0	0	7107	372	13	5	14387	5	HERC1	15	64067317	Nonsense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08	23973331	64067317	38464075	82	16507											
PTPLAD1	51495	broad.mit.edu	37	chr15	65864618	65864618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatattcaatgagaccggacGattcagtttcacattgccat	13	12	7	9	2	3	1	3	1	0	1	3	4	3	2	2	1	1	1	2	1	3	5			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr15:65864618G>A	ENST00000261875.5	+	10	1092	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	PTPLAD1_ENST00000562901.1_Missense_Mutation_p.R192Q|PTPLAD1_ENST00000569894.1_Missense_Mutation_p.R192Q|PTPLAD1_ENST00000568793.1_Missense_Mutation_p.R284Q|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.R254Q|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.R347Q|PTPLAD1_ENST00000566074.1_Missense_Mutation_p.R192Q|PTPLAD1_ENST00000566511.1_Missense_Mutation_p.R192Q	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	309					activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GAGACCGGACGATTCAGTTTC	0.318													13	137					0	0	0	0	A	65864618	G	A	65864618	3	1	86	1	0	0	0	0	1	0	0	0	12855	1058	37	1	964	1	PTPLAD1	15	65864618	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	1797301	65864618	36666774	83	16508											
CDH11	1009	broad.mit.edu	37	chr16	65016076	65016076	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatagggggctcatcagcAtcttctactgagatcttgac	11	11	9	10	0	5	2	2	2	3	1	5	3	5	2	0	2	3	2	0	2	3	4			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr16:65016076A>G	ENST00000394156.3	-	8	1581	c.1128T>C	c.(1126-1128)gaT>gaC	p.D376D	CDH11_ENST00000566827.1_Silent_p.D250D|CDH11_ENST00000268603.4_Silent_p.D376D			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	376	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCTCATCAGCATCTTCTACTG	0.517			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			12	129					0	0	0	0	G	65016076	A	G	65016076	2	3	86	1	0	0	0	0	0	0	0	1	3126	214	8	5		5	CDH11	16	65016076	Silent	SNP	A	TCGA-CN-5367-01A-01D-1434-08		65016076	25338677	84	16509											
FHOD1	29109	broad.mit.edu	37	chr16	67265094	67265094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctggcaggtgctaaccttGgcacagcgggtcagggcagg	7	8	16	10	1	2	0	1	0	1	0	2	0	2	0	1	6	3	4	1	6	1	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr16:67265094G>A	ENST00000258201.4	-	17	2911	c.2664C>T	c.(2662-2664)gcC>gcT	p.A888A	FHOD1_ENST00000567687.1_Silent_p.A467A	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	888	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGCTAACCTTGGCACAGCGGG	0.602													6	43					0	0	0	0	A	67265094	G	A	67265094	2	1	86	1	0	0	0	0	0	0	0	1	5927	1335	47	4		4	FHOD1	16	67265094	Silent	SNP	G	TCGA-CN-5367-01A-01D-1434-08	2249018	67265094	23089659	85	16510											
DYNLRB2	83657	broad.mit.edu	37	chr16	80583408	80583408	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catccgaacaaccttggacaActcaacaactgttcaatatg	15	9	5	12	1	2	0	2	0	0	0	3	2	3	1	2	1	5	1	2	1	7	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr16:80583408A>G	ENST00000305904.6	+	3	227	c.107A>G	c.(106-108)aAc>aGc	p.N36S	DYNLRB2_ENST00000562982.1_Missense_Mutation_p.N65S|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000570222.1_3'UTR|DYNLRB2_ENST00000568035.1_Intron|RP11-109P11.1_ENST00000568275.1_RNA	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	36					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						ACCTTGGACAACTCAACAACT	0.358													12	36					0	0	0	0	G	80583408	A	G	80583408	3	3	86	1	0	0	0	0	1	0	0	0	4887	43	2	5	117	5	DYNLRB2	16	80583408	Missense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08	13318314	80583408	9771345	86	16511											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	39					0	0	0	0	A	7577121	G	A	7577121	3	1	86	1	0	0	0	0	1	0	0	0	16476	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08		7577121	73618089	87	16512											
TP53	7157	broad.mit.edu	37	chr17	7578449	7578449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgactgcttgtagatggCcatggcgcggacgcgggtgc	5	9	17	10	4	0	2	0	1	0	1	0	3	0	3	1	4	2	2	1	4	1	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:7578449C>T	ENST00000420246.2	-	5	613	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	TP53_ENST00000413465.2_Missense_Mutation_p.A161T|TP53_ENST00000445888.2_Missense_Mutation_p.A161T|TP53_ENST00000359597.4_Missense_Mutation_p.A161T|TP53_ENST00000269305.4_Missense_Mutation_p.A161T|TP53_ENST00000455263.2_Missense_Mutation_p.A161T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	161	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A161T(54)|p.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGTAGATGGCCATGGCGCGG	0.632		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	62					0	0	0	0	T	7578449	C	T	7578449	3	4	86	1	0	0	0	0	1	0	0	0	16476	739	26	4	817	4	TP53	17	7578449	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	1328	7578449	73616761	88	16513											
PIK3R5	23533	broad.mit.edu	37	chr17	8808132	8808132	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaatgaaggtgagcagcTcctggcagatgctgcagtaa	12	8	12	9	0	1	3	1	2	0	1	2	3	2	3	1	2	4	6	1	2	3	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:8808132T>C	ENST00000447110.1	-	5	498	c.374A>G	c.(373-375)gAg>gGg	p.E125G	PIK3R5_ENST00000584803.1_Missense_Mutation_p.E125G|PIK3R5_ENST00000581552.1_Missense_Mutation_p.E125G	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	125					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGTGAGCAGCTCCTGGCAGAT	0.582													28	57					0	0	0	0	C	8808132	T	C	8808132	3	2	86	1	0	0	0	0	1	0	0	0	11994	1551	54	5	2328	5	PIK3R5	17	8808132	Missense_Mutation	SNP	T	TCGA-CN-5367-01A-01D-1434-08	1229683	8808132	72387078	89	16514											
PIGW	284098	broad.mit.edu	37	chr17	34893088	34893088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcattttctcacagtacttGtgttctttttcacctacctg	7	19	4	11	0	4	0	3	0	2	0	5	0	4	0	2	0	2	2	2	0	2	8			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:34893088G>A	ENST00000592983.1	+	2	718	c.138G>A	c.(136-138)ttG>ttA	p.L46L	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Silent_p.L46L			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	46					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CACAGTACTTGTGTTCTTTTT	0.448													8	246					0	0	0	0	A	34893088	G	A	34893088	2	1	86	1	0	0	0	0	0	0	0	1	11974	1368	48	4		4	PIGW	17	34893088	Silent	SNP	G	TCGA-CN-5367-01A-01D-1434-08	26084956	34893088	46302122	90	16515											
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74563605	74563605	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatatataggtctccaaaaTgtgtgttaatcaactttgat	13	15	7	6	0	2	1	1	1	1	0	3	1	2	1	1	1	1	2	1	1	7	5			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:74563605T>C	ENST00000225276.5	-	8	1206	c.887A>G	c.(886-888)cAt>cGt	p.H296R		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	296					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GTCTCCAAAATGTGTGTTAAT	0.443													12	51					0	0	0	0	C	74563605	T	C	74563605	3	2	86	1	0	0	0	0	1	0	0	0	15314	1464	51	5	245	5	ST6GALNAC2	17	74563605	Missense_Mutation	SNP	T	TCGA-CN-5367-01A-01D-1434-08	39670517	74563605	6631605	91	16516											
MYOM1	8736	broad.mit.edu	37	chr18	3067467	3067467	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgaacttgaggttgcagtgGtcgtctgaggccagggcctt	6	11	15	9	2	1	2	0	2	1	0	3	3	1	2	2	4	2	2	2	4	1	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr18:3067467G>C	ENST00000400569.3	-	38	5184	c.4851C>G	c.(4849-4851)gaC>gaG	p.D1617E	MYOM1_ENST00000356443.4_Missense_Mutation_p.D1617E|MYOM1_ENST00000261606.7_Missense_Mutation_p.D1521E			P52179	MYOM1_HUMAN	myomesin 1	1617	Ig-like C2-type 5.			D -> G (in Ref. 2; BAC86128).		striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGTTGCAGTGGTCGTCTGAGG	0.587													472	22					0	0	0	0	C	3067467	G	C	3067467	3	2	86	1	0	0	0	0	1	0	0	0	10161	1252	44	4	210	4	MYOM1	18	3067467	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08		3067467	75009781	92	16517											
SPIRE1	56907	broad.mit.edu	37	chr18	12493083	12493083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcacctaatctgctacGtctaatctcctctggtgata	9	13	7	12	1	5	1	1	1	4	0	6	2	5	2	2	2	2	1	2	2	4	4			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr18:12493083G>A	ENST00000409402.4	-	8	1444	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C	SPIRE1_ENST00000383356.2_Missense_Mutation_p.R234C|SPIRE1_ENST00000410092.3_Missense_Mutation_p.R393C|SPIRE1_ENST00000453447.2_Missense_Mutation_p.R273C|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Missense_Mutation_p.R196C	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	393						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AATCTGCTACGTCTAATCTCC	0.468													18	37					0	0	0	0	A	12493083	G	A	12493083	3	1	86	1	0	0	0	0	1	0	0	0	15161	1145	40	1	1133	1	SPIRE1	18	12493083	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	9425616	12493083	65584165	93	16518											
SALL3	27164	broad.mit.edu	37	chr18	76754699	76754699	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagtcctcgtcctcgcAggccctgtcgccggccccca	3	7	11	20	5	0	0	0	0	0	0	6	1	3	0	7	2	0	1	7	2	0	0			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr18:76754699A>G	ENST00000536229.3	+	1	3018	c.2309A>G	c.(2308-2310)cAg>cGg	p.Q770R	SALL3_ENST00000537592.2_Missense_Mutation_p.Q903R|SALL3_ENST00000575389.2_Missense_Mutation_p.Q903R			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	903					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCGTCCTCGCAGGCCCTGTCG	0.726													4	10					0	0	0	0	G	76754699	A	G	76754699	3	3	86	1	0	0	0	0	1	0	0	0	13897	188	7	5	2714	5	SALL3	18	76754699	Missense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08	64261616	76754699	1322549	94	16519											
PDE4C	5143	broad.mit.edu	37	chr19	18322001	18322001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcgattgtcctccagcGtgtccagcaggtcctgtgca	6	11	10	14	2	1	0	0	0	1	0	6	1	5	0	4	1	3	2	4	1	0	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:18322001G>A	ENST00000355502.3	-	19	2748	c.1877C>T	c.(1876-1878)aCg>aTg	p.T626M	AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000262805.11_Missense_Mutation_p.T594M|PDE4C_ENST00000539010.1_Missense_Mutation_p.T395M|PDE4C_ENST00000594617.2_Missense_Mutation_p.T626M|PDE4C_ENST00000447275.2_Missense_Mutation_p.T520M|PDE4C_ENST00000594465.2_Missense_Mutation_p.T626M			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	626					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GTCCTCCAGCGTGTCCAGCAG	0.597													7	108					0	0	0	0	A	18322001	G	A	18322001	3	1	86	1	0	0	0	0	1	0	0	0	11712	1145	40	1	265	1	PDE4C	19	18322001	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08		18322001	40806982	95	16520											
ZNF536	9745	broad.mit.edu	37	chr19	31040060	31040060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctccaagggggagaacaaCgatgaagaggatgttgaaac	15	6	13	7	1	0	4	0	2	0	2	2	7	2	5	2	3	3	1	2	3	5	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:31040060C>T	ENST00000355537.3	+	4	3681	c.3534C>T	c.(3532-3534)aaC>aaT	p.N1178N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGAGAACAACGATGAAGAGG	0.552													15	44					0	0	0	0	T	31040060	C	T	31040060	2	4	86	1	0	0	0	0	0	0	0	1	18069	535	19	1		1	ZNF536	19	31040060	Silent	SNP	C	TCGA-CN-5367-01A-01D-1434-08	12718059	31040060	28088923	96	16521											
SPRED3	399473	broad.mit.edu	37	chr19	38882740	38882740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcctgctggctgcgctggCcgcactgggtcgaggtgagc	4	7	18	12	3	0	1	0	1	0	0	1	3	0	1	2	4	4	4	2	4	0	0			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:38882740C>A	ENST00000587013.1	+	2	542	c.464C>A	c.(463-465)gCc>gAc	p.A155D	SPRED3_ENST00000586301.1_Missense_Mutation_p.A111D|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_Missense_Mutation_p.A111D			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	111					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCTGCGCTGGCCGCACTGGGT	0.607													39	88					4.92203e-23	5.4927e-23	1	0	A	38882740	C	A	38882740	3	1	86	1	0	0	0	0	1	0	0	0	15184	739	26	4	338	4	SPRED3	19	38882740	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	7842680	38882740	20246243	97	16522											
FPR1	2357	broad.mit.edu	37	chr19	52249293	52249293	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagggccctctccagacTggcgggaagggcgtggatca	7	6	17	11	2	3	1	2	0	1	1	4	3	3	3	2	6	0	0	2	6	1	0			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:52249293T>C	ENST00000595042.1	-	3	1096	c.955A>G	c.(955-957)Agt>Ggt	p.S319G	FPR1_ENST00000304748.4_Missense_Mutation_p.S319G	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	319					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CTCTCCAGACTGGCGGGAAGG	0.567													8	98					0	0	0	0	C	52249293	T	C	52249293	3	2	86	1	0	0	0	0	1	0	0	0	6085	1580	55	5	101	5	FPR1	19	52249293	Missense_Mutation	SNP	T	TCGA-CN-5367-01A-01D-1434-08	13366553	52249293	6879690	98	16523											
ZNF471	57573	broad.mit.edu	37	chr19	57027646	57027646	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatatttgtcacttcaggaCttagtgacattcaaggatgt	12	15	8	6	0	3	1	3	1	0	0	3	3	3	3	0	2	0	0	0	2	4	6			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:57027646C>G	ENST00000308031.5	+	3	169	c.36C>G	c.(34-36)gaC>gaG	p.D12E	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.D12E	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CACTTCAGGACTTAGTGACAT	0.398													27	90					0	0	0	0	G	57027646	C	G	57027646	3	3	86	1	0	0	0	0	1	0	0	0	18025	564	20	4	42	4	ZNF471	19	57027646	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	4778353	57027646	2101337	99	16524											
PLCB4	5332	broad.mit.edu	37	chr20	9388620	9388620	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttataaatatgtaggTgctaccactaatatccatcc	13	13	5	10	0	1	0	0	0	1	0	3	0	3	0	3	1	2	3	3	1	8	7			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:9388620T>C	ENST00000378501.2	+	18	1683	c.1668T>C	c.(1666-1668)ggT>ggC	p.G556G	PLCB4_ENST00000334005.3_Silent_p.G556G|PLCB4_ENST00000378493.1_Silent_p.G556G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.G556G|PLCB4_ENST00000414679.2_Silent_p.G568G|PLCB4_ENST00000378473.3_Silent_p.G568G	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	556					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AATATGTAGGTGCTACCACTA	0.423													44	130					0	0	0	0	C	9388620	T	C	9388620	2	2	86	1	0	0	0	0	0	0	0	1	12102	1683	59	5		5	PLCB4	20	9388620	Silent	SNP	T	TCGA-CN-5367-01A-01D-1434-08		9388620	53636900	100	16525											
FLRT3	23767	broad.mit.edu	37	chr20	14306474	14306474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctatatgcacagttccttGagaagagcgatccattccta	11	12	8	10	1	0	2	0	1	0	2	3	4	3	2	3	0	3	3	3	0	4	6			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:14306474G>A	ENST00000378053.3	-	2	1935	c.1679C>T	c.(1678-1680)tCa>tTa	p.S560L	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S560L	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	560					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ACAGTTCCTTGAGAAGAGCGA	0.468													57	117					0	0	0	0	A	14306474	G	A	14306474	3	1	86	1	0	0	0	0	1	0	0	0	5985	1294	45	2	274	2	FLRT3	20	14306474	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	4917854	14306474	48719046	101	16526											
PYGB	5834	broad.mit.edu	37	chr20	25276260	25276260	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcaaggtgtttgcagactAtgaagcctacatgcagtgcc	10	11	11	9	0	1	2	1	1	0	1	1	2	1	2	2	1	5	4	2	1	4	4			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:25276260A>G	ENST00000216962.4	+	19	2443	c.2333A>G	c.(2332-2334)tAt>tGt	p.Y778C	PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	778					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	TTTGCAGACTATGAAGCCTAC	0.632													22	88					0	0	0	0	G	25276260	A	G	25276260	3	3	86	1	0	0	0	0	1	0	0	0	12942	449	16	5	2407	5	PYGB	20	25276260	Missense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08	10969786	25276260	37749260	102	16527											
NFATC2	4773	broad.mit.edu	37	chr20	50140011	50140011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcaaccaaggcctcggCgcacgaatgcctccgcttgg	8	5	13	15	4	0	0	0	0	0	0	2	1	1	0	4	4	2	3	4	4	3	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:50140011C>T	ENST00000371564.3	-	2	988	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	NFATC2_ENST00000396009.3_Missense_Mutation_p.A257T|NFATC2_ENST00000414705.1_Missense_Mutation_p.A237T	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	257	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AAGGCCTCGGCGCACGAATGC	0.741													9	36					0	0	0	0	T	50140011	C	T	50140011	3	4	86	1	0	0	0	0	1	0	0	0	10432	768	27	1	2092	1	NFATC2	20	50140011	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	24863751	50140011	12885509	103	16528											
DIDO1	11083	broad.mit.edu	37	chr20	61510637	61510637	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgaggcctcgggcttcGggtcccgagcgctctctttg	2	10	13	16	5	1	0	0	0	1	0	6	2	2	0	3	3	1	2	3	3	0	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:61510637G>C	ENST00000266070.4	-	16	6996	c.6671C>G	c.(6670-6672)cCg>cGg	p.P2224R	DIDO1_ENST00000395343.1_Missense_Mutation_p.P2224R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2224					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCGGGCTTCGGGTCCCGAGC	0.692													3	13					0	0	0	0	C	61510637	G	C	61510637	3	2	86	1	0	0	0	0	1	0	0	0	4559	1116	39	3	55	3	DIDO1	20	61510637	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	11370626	61510637	1514883	104	16529											
YTHDF1	54915	broad.mit.edu	37	chr20	61834905	61834905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacttgtcccccatgctgaGaacgcagggttttcagggaa	9	9	11	12	1	1	1	1	1	0	1	2	3	2	2	3	2	2	3	3	2	2	3			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:61834905G>C	ENST00000370339.3	-	4	728	c.387C>G	c.(385-387)ttC>ttG	p.F129L	YTHDF1_ENST00000370333.4_Missense_Mutation_p.F79L|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	129										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CCCATGCTGAGAACGCAGGGT	0.567													20	50					0	0	0	0	C	61834905	G	C	61834905	3	2	86	1	0	0	0	0	1	0	0	0	17594	933	33	2	1300	2	YTHDF1	20	61834905	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	324268	61834905	1190615	105	16530											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46011993	46011993	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagcagacggacacacAgcacacaggcttgcagcaga	14	2	10	15	1	0	2	0	0	0	2	0	3	0	3	1	2	4	5	1	2	0	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr21:46011993A>C	ENST00000400368.1	-	1	393	c.373T>G	c.(373-375)Tgt>Ggt	p.C125G	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	125	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						ACGGACACACAGCACACAGGC	0.642													6	63					0	0	0	0	C	46011993	A	C	46011993	3	2	86	1	0	0	0	0	1	0	0	0	8565	188	7	5	728	5	KRTAP10-6	21	46011993	Missense_Mutation	SNP	A	TCGA-CN-5367-01A-01D-1434-08		46011993	2117902	106	16531											
PHKA2	5256	broad.mit.edu	37	chrX	18924612	18924612	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggagctgcgggcatctcaCctgagcagttcaggctccgt	7	8	13	13	2	2	1	2	1	1	0	4	2	3	2	2	3	3	5	2	3	0	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:18924612C>T	ENST00000379942.4	-	25	3472		c.e25+1			NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)						glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGGCATCTCACCTGAGCAGTT	0.627													24	55					0	0	0	0	T	18924612	C	T	18924612	5	4	86	1	0	0	0	0	0	0	1	0	11916	521	18	4	936	4	PHKA2	23	18924612	Splice_Site	SNP	C	TCGA-CN-5367-01A-01D-1434-08		18924612	136345948	107	16532											
PTCHD1	139411	broad.mit.edu	37	chrX	23398142	23398142	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgagggaagatttccaGaagaccagccgcgtatcaga	13	7	11	10	2	2	5	2	1	0	4	3	6	3	6	3	1	1	1	3	1	3	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:23398142G>T	ENST00000379361.4	+	2	1646	c.786G>T	c.(784-786)caG>caT	p.Q262H		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	262					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AAGATTTCCAGAAGACCAGCC	0.522													36	173					9.04072e-19	1.00163e-18	1	0	T	23398142	G	T	23398142	3	4	86	1	0	0	0	0	1	0	0	0	12811	933	33	2	792	2	PTCHD1	23	23398142	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	4473530	23398142	131872418	108	16533											
WNK3	65267	broad.mit.edu	37	chrX	54334451	54334451	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacacattccaaaagcataAacatctacggattcatcata	18	10	3	10	1	3	0	2	0	1	0	4	1	4	1	1	1	4	1	1	1	7	6			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:54334451A>G	ENST00000354646.2	-	5	1431	c.993T>C	c.(991-993)gtT>gtC	p.V331V	WNK3_ENST00000375169.3_Silent_p.V331V|WNK3_ENST00000375159.2_Silent_p.V331V	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	331	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CAAAAGCATAAACATCTACGG	0.398													7	75					0	0	0	0	G	54334451	A	G	54334451	2	3	86	1	0	0	0	0	0	0	0	1	17475	1	1	5		5	WNK3	23	54334451	Silent	SNP	A	TCGA-CN-5367-01A-01D-1434-08	30936309	54334451	100936109	109	16534											
SLC16A2	6567	broad.mit.edu	37	chrX	73740906	73740906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgaccgtttgggctgccGaatcacagcaaccgcggggg	8	6	14	13	4	1	1	1	1	0	0	1	2	1	1	3	3	3	3	3	3	2	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:73740906G>A	ENST00000276033.5	+	2	900	c.734G>A	c.(733-735)cGa>cAa	p.R245Q	SLC16A2_ENST00000587091.1_Missense_Mutation_p.R171Q			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	171						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TTGGGCTGCCGAATCACAGCA	0.537													6	85					0	0	0	0	A	73740906	G	A	73740906	3	1	86	1	0	0	0	0	1	0	0	0	14496	1058	37	1	740	1	SLC16A2	23	73740906	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	19406455	73740906	81529654	110	16535											
CYLC1	1538	broad.mit.edu	37	chrX	83128622	83128622	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgctgaatctgaagaCtcaaaggatgctaagaaaga	16	9	10	6	0	3	6	1	3	2	3	3	7	3	7	0	1	2	2	0	1	5	1			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:83128622C>G	ENST00000329312.4	+	4	943	c.906C>G	c.(904-906)gaC>gaG	p.D302E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	302					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AATCTGAAGACTCAAAGGATG	0.323													10	52					0	0	0	0	G	83128622	C	G	83128622	3	3	86	1	0	0	0	0	1	0	0	0	4173	564	20	4	920	4	CYLC1	23	83128622	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	9387716	83128622	72141938	111	16536											
SPANXD	64648	broad.mit.edu	37	chrX	140786553	140786553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccccgccggcactggattGtttgtccattgtatatattg	7	14	9	11	2	0	0	0	0	0	0	1	1	1	1	4	2	0	3	4	2	3	7			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:140786553G>T	ENST00000370515.3	-	1	343	c.10C>A	c.(10-12)Caa>Aaa	p.Q4K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					GCACTGGATTGTTTGTCCATT	0.507													43	184					3.37043e-27	3.78866e-27	1	0	T	140786553	G	T	140786553	3	4	86	1	0	0	0	0	1	0	0	0	15078	1386	48	4	291	4	SPANXD	23	140786553	Missense_Mutation	SNP	G	TCGA-CN-5367-01A-01D-1434-08	57657931	140786553	14484007	112	16537											
FMR1	2332	broad.mit.edu	37	chrX	147026445	147026445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatctgaccacagagacgaaCtcagtgattggtcattagct	13	10	9	9	1	3	3	2	2	1	1	3	5	3	3	1	1	2	1	1	1	3	2			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:147026445C>T	ENST00000218200.8	+	14	1694	c.1465C>T	c.(1465-1467)Ctc>Ttc	p.L489F	FMR1_ENST00000370475.4_Missense_Mutation_p.L510F|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000439526.2_Missense_Mutation_p.L487F|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000440235.2_Missense_Mutation_p.L157F|FMR1_ENST00000370477.1_Missense_Mutation_p.L477F	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	510	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGACGAACTCAGTGATTG	0.473									Fragile X syndrome				3	59					0	0	0	0	T	147026445	C	T	147026445	3	4	86	1	0	0	0	0	1	0	0	0	6005	565	20	4	1586	4	FMR1	23	147026445	Missense_Mutation	SNP	C	TCGA-CN-5367-01A-01D-1434-08	6239892	147026445	8244115	113	16538											
PHF13	148479	broad.mit.edu	37	chr1	6680128	6680128	+	Frame_Shift_Del	DEL	G	G	-																															gcctgggaaagaggggtacaGggggggcttgctgaagctgg																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:6680128delG	ENST00000377648.4	+	3	789	c.407delG	c.(406-408)agfs	p.R136fs	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	136					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGGGTACAGGGGGGGCTTG	0.602													13	51	---	---	---	---					-	6680128	G	-	6680128	7	5	87	1	0	1	0	1	0	0	0	0	11896	1000	35	0	417	0	PHF13	1	6680128	Frame_Shift_Del	DEL	G	TCGA-CN-5369-01A-01D-1434-08		6680128	242570493	1	16539											
RERE	473	broad.mit.edu	37	chr1	8421258	8421258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgtgggggaactgcagtgGcagagggcgtgggccctggc	5	6	20	10	1	0	1	0	0	0	1	0	2	0	2	2	6	2	2	2	6	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:8421258G>A	ENST00000337907.3	-	19	2943	c.2309C>T	c.(2308-2310)gCc>gTc	p.A770V	RERE_ENST00000377464.1_Missense_Mutation_p.A502V|RERE_ENST00000476556.1_Missense_Mutation_p.A216V|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.A770V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	770	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AACTGCAGTGGCAGAGGGCGT	0.706													3	14					0	0	0	0	A	8421258	G	A	8421258	3	1	87	1	0	0	0	0	1	0	0	0	13313	1203	42	4	2415	4	RERE	1	8421258	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1741130	8421258	240829363	2	16540											
RERE	473	broad.mit.edu	37	chr1	8674637	8674637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccctacaggccctctccCggcttcagaaagatgctgtg	8	9	9	15	1	2	2	1	0	1	2	3	2	2	2	4	2	3	2	4	2	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:8674637C>T	ENST00000337907.3	-	5	1139	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	RERE_ENST00000400907.2_Missense_Mutation_p.G169R|RERE_ENST00000400908.2_Missense_Mutation_p.G169R	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	169	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGCCCTCTCCCGGCTTCAGAA	0.507													14	102					0	0	0	0	T	8674637	C	T	8674637	3	4	87	1	0	0	0	0	1	0	0	0	13313	652	23	1	4275	1	RERE	1	8674637	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	253379	8674637	240575984	3	16541											
PEX14	5195	broad.mit.edu	37	chr1	10659377	10659377	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccttgggcccagccacAcaggtggttcctgtccagcc	5	9	11	16	1	0	0	0	0	0	0	4	0	3	0	6	3	2	1	6	3	0	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:10659377A>C	ENST00000356607.4	+	4	332	c.252A>C	c.(250-252)acA>acC	p.T84T	PEX14_ENST00000538836.1_Silent_p.T20T	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	84					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCAGCCACACAGGTGGTTC	0.557													12	90					0	0	0	0	C	10659377	A	C	10659377	2	2	87	1	0	0	0	0	0	0	0	1	11814	146	6	5		5	PEX14	1	10659377	Silent	SNP	A	TCGA-CN-5369-01A-01D-1434-08	1984740	10659377	238591244	4	16542											
AADACL3	126767	broad.mit.edu	37	chr1	12785336	12785336	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttcggaggggcaatagcCgcagtggtttgtcaacaact	10	10	13	8	2	1	0	1	0	0	0	2	1	1	1	1	4	3	4	1	4	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:12785336C>A	ENST00000332530.3	+	3	442	c.216C>A	c.(214-216)gcC>gcA	p.A72A	AADACL3_ENST00000359318.5_Silent_p.A142A	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	142							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAATAGCCGCAGTGGTTT	0.567													12	134					5.16669e-11	5.69924e-11	1	0	A	12785336	C	A	12785336	2	1	87	1	0	0	0	0	0	0	0	1	12	639	23	3		3	AADACL3	1	12785336	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2125959	12785336	236465285	5	16543											
CATSPER4	378807	broad.mit.edu	37	chr1	26520297	26520297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaacactatgagttgttctCtaccatagatgacattgtgc	12	13	8	8	0	1	3	0	2	1	1	2	4	1	3	1	0	3	2	1	0	4	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:26520297C>T	ENST00000456354.2	+	3	444	c.377C>T	c.(376-378)tCt>tTt	p.S126F		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	126					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTTGTTCTCTACCATAGAT	0.507													11	93					0	0	0	0	T	26520297	C	T	26520297	3	4	87	1	0	0	0	0	1	0	0	0	2715	913	32	2	387	2	CATSPER4	1	26520297	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	13734961	26520297	222730324	6	16544											
AHDC1	27245	broad.mit.edu	37	chr1	27874901	27874901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcccagatgtgaggcctcGaacaggtccaccttcttccg	9	8	10	14	2	1	2	0	1	1	1	4	3	3	2	5	2	2	0	5	2	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:27874901G>A	ENST00000374011.2	-	6	4694	c.3726C>T	c.(3724-3726)ttC>ttT	p.F1242F	AHDC1_ENST00000247087.5_Silent_p.F1242F|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1242							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTGAGGCCTCGAACAGGTCCA	0.652													4	54					0	0	0	0	A	27874901	G	A	27874901	2	1	87	1	0	0	0	0	0	0	0	1	412	1049	37	1		1	AHDC1	1	27874901	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1354604	27874901	221375720	7	16545											
HCRTR1	3061	broad.mit.edu	37	chr1	32085276	32085276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactgagtcctggctgttcGgccatgccctctgcaaggtc	5	11	11	14	1	2	1	1	1	1	0	5	1	3	1	3	3	2	3	3	3	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:32085276G>A	ENST00000403528.2	+	4	728	c.343G>A	c.(343-345)Ggc>Agc	p.G115S	HCRTR1_ENST00000373706.5_Missense_Mutation_p.G115S|HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373705.1_Missense_Mutation_p.G115S	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	115					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CTGGCTGTTCGGCCATGCCCT	0.582													3	23					0	0	0	0	A	32085276	G	A	32085276	3	1	87	1	0	0	0	0	1	0	0	0	7051	1116	39	1	349	1	HCRTR1	1	32085276	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	4210375	32085276	217165345	8	16546											
COL16A1	1307	broad.mit.edu	37	chr1	32163681	32163681	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacgcaagtcgaagagctgGggcactgggaagatgcagga	13	4	16	8	2	0	2	0	0	0	2	1	5	0	4	0	4	3	4	0	4	4	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:32163681G>T	ENST00000373672.3	-	6	999	c.483C>A	c.(481-483)ccC>ccA	p.P161P	COL16A1_ENST00000271069.6_Silent_p.P161P|COL16A1_ENST00000373668.3_Silent_p.P161P	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	161	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CGAAGAGCTGGGGCACTGGGA	0.617													9	68					1.12685e-05	1.21017e-05	1	0	T	32163681	G	T	32163681	2	4	87	1	0	0	0	0	0	0	0	1	3703	1219	43	4		4	COL16A1	1	32163681	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	78405	32163681	217086940	9	16547											
KIAA0754	643314	broad.mit.edu	37	chr1	39876557	39876557	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataggtattccagaggtgcAagattttaaaaacttaagtg	15	12	9	5	0	0	2	0	0	0	2	1	2	1	2	1	2	2	2	1	2	7	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:39876557A>G	ENST00000530275.1	+	1	407	c.212A>G	c.(211-213)cAa>cGa	p.Q71R	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	71	13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAGGTGCAAGATTTTAAA	0.438											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	83					0	0	0	0	G	39876557	A	G	39876557	3	3	87	1	0	0	0	0	1	0	0	0	8243	130	5	5	622	5	KIAA0754	1	39876557	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	7712876	39876557	209374064	10	16548											
FOXJ3	22887	broad.mit.edu	37	chr1	42655054	42655054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttagcatatcaagtgtcGcataccaatcatttgaaaca	14	13	5	9	1	2	1	2	1	0	0	3	1	2	1	1	0	3	2	1	0	6	5	rs61753350		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:42655054G>A	ENST00000372572.1	-	12	1684	c.1373C>T	c.(1372-1374)gCg>gTg	p.A458V	FOXJ3_ENST00000372573.1_Missense_Mutation_p.A458V|FOXJ3_ENST00000361776.1_Missense_Mutation_p.A424V|FOXJ3_ENST00000361346.1_Missense_Mutation_p.A458V|FOXJ3_ENST00000372571.1_5'UTR|FOXJ3_ENST00000545068.1_Missense_Mutation_p.A458V	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	458					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCAAGTGTCGCATACCAATC	0.403													4	37					0	0	0	0	A	42655054	G	A	42655054	3	1	87	1	0	0	0	0	1	0	0	0	6060	1087	38	1	511	1	FOXJ3	1	42655054	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2778497	42655054	206595567	11	16549											
EIF2B3	8891	broad.mit.edu	37	chr1	45341334	45341334	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacgaatggactggtggttCttctggacagagagcagaca	11	9	14	7	1	2	3	0	1	2	2	2	7	2	5	0	4	1	2	0	4	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:45341334C>G	ENST00000360403.2	-	9	1135	c.1009G>C	c.(1009-1011)Gaa>Caa	p.E337Q	EIF2B3_ENST00000372183.3_Missense_Mutation_p.E337Q	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	337					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACTGGTGGTTCTTCTGGACAG	0.507													6	65					0	0	0	0	G	45341334	C	G	45341334	3	3	87	1	0	0	0	0	1	0	0	0	5038	922	32	2	402	2	EIF2B3	1	45341334	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2686280	45341334	203909287	12	16550											
POMGNT1	55624	broad.mit.edu	37	chr1	46655573	46655573	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcatcatctttctccattcGaataaaggccacgtaggtgt	10	13	8	10	2	4	0	2	0	2	0	6	1	4	0	2	2	0	1	2	2	4	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:46655573G>A	ENST00000371992.1	-	20	2388	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371986.3_Nonsense_Mutation_p.R580*|POMGNT1_ENST00000371984.3_Nonsense_Mutation_p.R580*|POMGNT1_ENST00000535522.1_Nonsense_Mutation_p.R558*	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	580					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TTCTCCATTCGAATAAAGGCC	0.547													4	33					0	0	0	0	A	46655573	G	A	46655573	4	1	87	1	0	0	0	0	0	1	0	0	12315	1066	37	1	256	1	POMGNT1	1	46655573	Nonsense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1314239	46655573	202595048	13	16551											
SLC5A9	200010	broad.mit.edu	37	chr1	48703350	48703350	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctgtgctctctctggcaGagtgtttgtggtgttcctgg	2	15	14	10	0	2	1	0	0	2	1	4	1	3	1	2	3	1	4	2	3	0	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:48703350G>A	ENST00000236495.5	+	12	1417		c.e12-1		SLC5A9_ENST00000438567.2_Splice_Site|SLC5A9_ENST00000533824.1_Splice_Site|SLC5A9_ENST00000420136.2_Splice_Site	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9							integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTCTCTGGCAGAGTGTTTGTG	0.567													5	55					0	0	0	0	A	48703350	G	A	48703350	5	1	87	1	0	0	0	0	0	0	1	0	14760	956	33	2	1413	2	SLC5A9	1	48703350	Splice_Site	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2047777	48703350	200547271	14	16552											
MRPL37	51253	broad.mit.edu	37	chr1	54681872	54681872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtgggcacggatggacGtgtcttccatttcctagtgt	6	12	14	9	3	1	0	0	0	1	0	3	3	3	2	2	3	1	1	2	3	1	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:54681872G>A	ENST00000605337.1	+	6	1097	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	MRPL37_ENST00000360840.5_Missense_Mutation_p.R350H|MRPL37_ENST00000336230.6_Missense_Mutation_p.R219H			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	350					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						ACGGATGGACGTGTCTTCCAT	0.517													11	96					0	0	0	0	A	54681872	G	A	54681872	3	1	87	1	0	0	0	0	1	0	0	0	9870	1145	40	1	1071	1	MRPL37	1	54681872	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	5978522	54681872	194568749	15	16553											
USP24	23358	broad.mit.edu	37	chr1	55561055	55561055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtatcttcggcgcacatCagtgtatgggtttgctttat	7	15	10	9	2	2	0	1	0	1	0	3	0	2	0	1	2	1	5	1	2	3	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:55561055C>T	ENST00000294383.6	-	51	6075	c.6076G>A	c.(6076-6078)Gat>Aat	p.D2026N	USP24_ENST00000407756.1_Missense_Mutation_p.D1866N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2026					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CGGCGCACATCAGTGTATGGG	0.388													3	26					0	0	0	0	T	55561055	C	T	55561055	3	4	87	1	0	0	0	0	1	0	0	0	17151	826	29	2	1858	2	USP24	1	55561055	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	879183	55561055	193689566	16	16554											
PDE4B	5142	broad.mit.edu	37	chr1	66827446	66827446	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcatctcacgctttggagtCaacactgaaaatgaagatca	15	9	8	9	1	3	3	3	2	1	1	4	4	3	4	0	1	2	2	0	1	4	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:66827446C>G	ENST00000423207.2	+	8	1430	c.945C>G	c.(943-945)gtC>gtG	p.V315V	PDE4B_ENST00000480109.2_Silent_p.V97V|PDE4B_ENST00000371049.3_Silent_p.V330V|PDE4B_ENST00000329654.4_Silent_p.V330V|PDE4B_ENST00000371045.5_Silent_p.V158V	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	330					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	GCTTTGGAGTCAACACTGAAA	0.418													6	57					0	0	0	0	G	66827446	C	G	66827446	2	3	87	1	0	0	0	0	0	0	0	1	11711	813	29	2		2	PDE4B	1	66827446	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	11266391	66827446	182423175	17	16555											
C1orf141	400757	broad.mit.edu	37	chr1	67592911	67592911	+	Frame_Shift_Del	DEL	T	T	-																															gacatccaacttctctaggaTtttttctgccattgtcaatc																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:67592911delT	ENST00000371007.2	-	3	122	c.13delA	c.(13-15)tcfs	p.I5fs	C1orf141_ENST00000544837.1_Frame_Shift_Del_p.I5fs|C1orf141_ENST00000371006.1_Frame_Shift_Del_p.I5fs	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	5										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTCTCTAGGATTTTTTCTGCC	0.313													8	125	---	---	---	---					-	67592911	T	-	67592911	7	5	87	1	0	1	0	1	0	0	0	0	2020	1493	52	0	1213	0	C1orf141	1	67592911	Frame_Shift_Del	DEL	T	TCGA-CN-5369-01A-01D-1434-08	765465	67592911	181657710	18	16556											
GNG12	55970	broad.mit.edu	37	chr1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-																															ccactataagatgatgcaagTttttttatccttgaaagggt																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:68171151delT	ENST00000370982.3	-	4	401	c.202delA	c.(202-204)ctfs	p.T68fs		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	68					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						ATGATGCAAGTTTTTTTATCC	0.438													16	96	---	---	---	---					-	68171151	T	-	68171151	7	5	87	1	0	1	0	1	0	0	0	0	6576	1725	60	0	20	0	GNG12	1	68171151	Frame_Shift_Del	DEL	T	TCGA-CN-5369-01A-01D-1434-08	578240	68171151	181079470	19	16557											
ATXN7L2	127002	broad.mit.edu	37	chr1	110030321	110030321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctggcagagagaacatcGagatcatccccagtgagggg	11	6	13	11	1	1	4	1	1	0	3	4	6	3	4	3	3	1	1	3	3	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:110030321G>A	ENST00000369870.3	+	5	610	c.595G>A	c.(595-597)Gag>Aag	p.E199K		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	199										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGAGAACATCGAGATCATCCC	0.597													6	98					0	0	0	0	A	110030321	G	A	110030321	3	1	87	1	0	0	0	0	1	0	0	0	1221	1059	37	1	613	1	ATXN7L2	1	110030321	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	41859170	110030321	139220300	20	16558											
EPS8L3	79574	broad.mit.edu	37	chr1	110301152	110301152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccccaaacttactgtgctCtagggtcctctggtggggct	5	12	12	12	0	2	0	0	0	2	0	3	0	3	0	3	4	4	2	3	4	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:110301152C>T	ENST00000369805.3	-	7	827	c.598G>A	c.(598-600)Gag>Aag	p.E200K	EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361852.4_Missense_Mutation_p.E199K|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.E199K	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	199	Pro-rich.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TTACTGTGCTCTAGGGTCCTC	0.577													7	75					0	0	0	0	T	110301152	C	T	110301152	3	4	87	1	0	0	0	0	1	0	0	0	5235	922	32	2	1238	2	EPS8L3	1	110301152	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	270831	110301152	138949469	21	16559											
KCNA2	3737	broad.mit.edu	37	chr1	111146896	111146896	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatcagaatcaccatgAcagacacaatagctataatc	17	9	6	9	0	2	4	2	2	0	3	3	5	2	4	1	0	1	1	1	0	5	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:111146896A>G	ENST00000485317.1	-	3	1182	c.509T>C	c.(508-510)gTc>gCc	p.V170A	KCNA2_ENST00000369770.3_Missense_Mutation_p.V170A|KCNA2_ENST00000316361.4_Missense_Mutation_p.V170A|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.V170A			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	170						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AATCACCATGACAGACACAAT	0.483													15	80					0	0	0	0	G	111146896	A	G	111146896	3	3	87	1	0	0	0	0	1	0	0	0	8056	275	10	5	994	5	KCNA2	1	111146896	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	845744	111146896	138103725	22	16560											
KCNA3	3738	broad.mit.edu	37	chr1	111216030	111216030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgcgatggtcaagacacCggcgatggcacagagagatc	13	5	13	10	3	1	3	1	0	0	3	2	6	1	3	1	3	1	1	1	3	2	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:111216030C>T	ENST00000369769.2	-	1	1625	c.1402G>A	c.(1402-1404)Ggt>Agt	p.G468S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	468						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G468S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCAAGACACCGGCGATGGCA	0.527													9	52					0	0	0	0	T	111216030	C	T	111216030	3	4	87	1	0	0	0	0	1	0	0	0	8057	652	23	1	329	1	KCNA3	1	111216030	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	69134	111216030	138034591	23	16561											
SYT6	148281	broad.mit.edu	37	chr1	114641761	114641761	+	Frame_Shift_Del	DEL	T	T	-																															gcaggctgacttgatccatgTtttccgggggaatgtcaaag																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:114641761delT	ENST00000393296.1	-	5	1396	c.1319delA	c.(1318-1320)acfs	p.N440fs	SYT6_ENST00000369547.1_Frame_Shift_Del_p.N355fs			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	440	C2 2.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGATCCATGTTTTCCGGGGG	0.488													13	172	---	---	---	---					-	114641761	T	-	114641761	7	5	87	1	0	1	0	1	0	0	0	0	15569	1725	60	0	225	0	SYT6	1	114641761	Frame_Shift_Del	DEL	T	TCGA-CN-5369-01A-01D-1434-08	3425731	114641761	134608860	24	16562											
SPAG17	200162	broad.mit.edu	37	chr1	118530499	118530499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcgttttgaggatgctGtgtgtctatgtgaaaggaaa	10	13	13	5	1	1	2	0	2	1	0	2	4	2	4	1	2	2	2	1	2	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:118530499G>A	ENST00000336338.5	-	40	5692	c.5627C>T	c.(5626-5628)aCa>aTa	p.T1876I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1876						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGAGGATGCTGTGTGTCTATG	0.388													5	42					0	0	0	0	A	118530499	G	A	118530499	3	1	87	1	0	0	0	0	1	0	0	0	15069	1377	48	4	1080	4	SPAG17	1	118530499	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3888738	118530499	130720122	25	16563											
FMO5	2330	broad.mit.edu	37	chr1	146658581	146658581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctttcaactactcttgtCatcagaggcttcctgatgcg	7	14	7	13	1	4	2	3	1	1	1	6	2	6	2	2	1	3	1	2	1	2	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:146658581C>T	ENST00000254090.4	-	9	1888	c.1500G>A	c.(1498-1500)atG>atA	p.M500I	FMO5_ENST00000441068.2_Intron|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_3'UTR	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	500						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CTACTCTTGTCATCAGAGGCT	0.448													7	71					0	0	0	0	T	146658581	C	T	146658581	3	4	87	1	0	0	0	0	1	0	0	0	6003	826	29	2	248	2	FMO5	1	146658581	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	28128082	146658581	102592040	26	16564											
GON4L	54856	broad.mit.edu	37	chr1	155735586	155735586	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcaatgtccacattcacGtgggccttatcttcaggggt	9	11	10	11	1	3	0	2	0	1	0	4	0	4	0	2	3	1	1	2	3	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:155735586G>A	ENST00000437809.1	-	21	3800	c.3678C>T	c.(3676-3678)caC>caT	p.H1226H	GON4L_ENST00000271883.5_Silent_p.H1226H|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.H1226H|GON4L_ENST00000368331.1_Silent_p.H1226H			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1226					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCACATTCACGTGGGCCTTAT	0.493													6	101					0	0	0	0	A	155735586	G	A	155735586	2	1	87	1	0	0	0	0	0	0	0	1	6620	1136	40	1		1	GON4L	1	155735586	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	9077005	155735586	93515035	27	16565											
GON4L	54856	broad.mit.edu	37	chr1	155744857	155744857	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgctgaagtcttcaatCagctgcatagctcccatcaa	10	12	8	11	0	4	1	3	1	1	0	5	1	5	1	1	0	4	4	1	0	4	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:155744857C>A	ENST00000437809.1	-	17	2408	c.2286G>T	c.(2284-2286)ctG>ctT	p.L762L	GON4L_ENST00000271883.5_Silent_p.L762L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.L762L|GON4L_ENST00000368331.1_Silent_p.L762L			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	762					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTCTTCAATCAGCTGCATAG	0.463													5	57					0.0215528	0.0217669	1	0	A	155744857	C	A	155744857	2	1	87	1	0	0	0	0	0	0	0	1	6620	813	29	2		2	GON4L	1	155744857	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	9271	155744857	93505764	28	16566											
BCAN	63827	broad.mit.edu	37	chr1	156617318	156617318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggggtcgtctttctctaccGagagggctctgcccgctatg	5	11	13	12	3	3	1	0	0	3	1	5	2	3	1	2	3	2	2	2	3	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:156617318G>A	ENST00000329117.4	+	4	821	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R162Q	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	162	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTCTCTACCGAGAGGGCTCT	0.652													6	41					0	0	0	0	A	156617318	G	A	156617318	3	1	87	1	0	0	0	0	1	0	0	0	1349	1058	37	1	495	1	BCAN	1	156617318	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	872461	156617318	92633303	29	16567											
BCAN	63827	broad.mit.edu	37	chr1	156617836	156617836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatggcttccccggggtcCggaactatggtgtggtggac	5	10	17	9	2	0	0	0	0	0	0	2	3	2	3	3	8	1	1	3	8	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:156617836C>T	ENST00000329117.4	+	5	1039	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R235W	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	235	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCGGGGTCCGGAACTATGG	0.517													8	108					0	0	0	0	T	156617836	C	T	156617836	3	4	87	1	0	0	0	0	1	0	0	0	1349	643	23	1	717	1	BCAN	1	156617836	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	518	156617836	92632785	30	16568											
ARHGEF11	9826	broad.mit.edu	37	chr1	156914199	156914199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaggggtccctcatggatCatttttctggttgtaagatc	7	15	11	8	0	4	1	3	0	1	1	6	2	5	2	1	4	0	2	1	4	1	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:156914199C>T	ENST00000368194.3	-	31	4057	c.3018G>A	c.(3016-3018)atG>atA	p.M1006I	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.M382I|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.M966I|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	966	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCATGGATCATTTTTCTGG	0.493													5	59					0	0	0	0	T	156914199	C	T	156914199	3	4	87	1	0	0	0	0	1	0	0	0	898	826	29	2	1714	2	ARHGEF11	1	156914199	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	296363	156914199	92336422	31	16569											
KCNJ10	3766	broad.mit.edu	37	chr1	160012273	160012273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcccattaggggccggCtttctgtctgagtggtctga	4	12	15	10	1	3	2	0	2	3	0	3	2	3	2	2	5	0	1	2	5	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:160012273C>T	ENST00000368089.3	-	2	276	c.50G>A	c.(49-51)aGc>aAc	p.S17N		NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	17						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAGGGGCCGGCTTTCTGTCTG	0.537													6	58					0	0	0	0	T	160012273	C	T	160012273	3	4	87	1	0	0	0	0	1	0	0	0	8097	797	28	4	1093	4	KCNJ10	1	160012273	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	3098074	160012273	89238348	32	16570											
OLFML2B	25903	broad.mit.edu	37	chr1	161993108	161993108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctcgtcctccgcaggcGccactgtctgcgcatctggg	4	9	13	15	4	3	0	0	0	3	0	6	1	5	0	3	2	1	2	3	2	0	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:161993108G>A	ENST00000294794.3	-	1	536	c.113C>T	c.(112-114)gCg>gTg	p.A38V	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A38V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	38										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTCCGCAGGCGCCACTGTCTG	0.597													8	63					0	0	0	0	A	161993108	G	A	161993108	3	1	87	1	0	0	0	0	1	0	0	0	10929	1087	38	1	2171	1	OLFML2B	1	161993108	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1980835	161993108	87257513	33	16571											
ATP1B1	481	broad.mit.edu	37	chr1	169096464	169096464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtttttatttttagatGtgcccagtgaaccgaaagaa	11	16	9	5	1	0	3	0	1	0	2	0	4	0	3	2	0	2	1	2	0	5	7			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:169096464G>A	ENST00000367816.1	+	5	914	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	ATP1B1_ENST00000499679.3_Missense_Mutation_p.V73M|ATP1B1_ENST00000494797.1_3'UTR|ATP1B1_ENST00000367815.3_Missense_Mutation_p.V129M|ATP1B1_ENST00000367813.3_Missense_Mutation_p.V121M			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	129					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					ATTTTTAGATGTGCCCAGTGA	0.393													6	69					0	0	0	0	A	169096464	G	A	169096464	3	1	87	1	0	0	0	0	1	0	0	0	1136	1377	48	4	399	4	ATP1B1	1	169096464	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	7103356	169096464	80154157	34	16572											
RASAL2	9462	broad.mit.edu	37	chr1	178414790	178414790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaacagtatcttcatgaCgcactgggtatgaaagagaa	15	8	11	7	1	2	3	1	2	1	1	2	5	2	4	0	2	1	3	0	2	5	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:178414790C>T	ENST00000448150.3	+	9	2384	c.1566C>T	c.(1564-1566)gaC>gaT	p.D522D	RASAL2_ENST00000367649.3_Silent_p.D540D|RASAL2_ENST00000462775.1_Silent_p.D392D	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	392					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ATCTTCATGACGCACTGGGTA	0.388													5	71					0	0	0	0	T	178414790	C	T	178414790	2	4	87	1	0	0	0	0	0	0	0	1	13146	535	19	1		1	RASAL2	1	178414790	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	9318326	178414790	70835831	35	16573											
XPR1	9213	broad.mit.edu	37	chr1	180775644	180775644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaacttgaagatggtgacaGacaaaaggctatgaagcgtt	15	9	12	5	1	0	6	0	4	0	2	0	6	0	6	0	2	2	2	0	2	6	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:180775644G>C	ENST00000367590.4	+	6	830	c.632G>C	c.(631-633)aGa>aCa	p.R211T	XPR1_ENST00000367589.3_Missense_Mutation_p.R211T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	211						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GATGGTGACAGACAAAAGGCT	0.373													7	91					0	0	0	0	C	180775644	G	C	180775644	3	2	87	1	0	0	0	0	1	0	0	0	17547	942	33	2	654	2	XPR1	1	180775644	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2360854	180775644	68474977	36	16574											
KIAA1614	57710	broad.mit.edu	37	chr1	180885980	180885980	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacccttttccagatggCgtggtgacagaggcagatct	8	11	11	11	1	1	4	0	1	1	3	3	4	3	4	3	3	1	1	3	3	1	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:180885980C>T	ENST00000367588.4	+	2	796	c.741C>T	c.(739-741)ggC>ggT	p.G247G		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	247								p.G247G(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TTCCAGATGGCGTGGTGACAG	0.587													17	185					0	0	0	0	T	180885980	C	T	180885980	2	4	87	1	0	0	0	0	0	0	0	1	8299	755	27	1		1	KIAA1614	1	180885980	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	110336	180885980	68364641	37	16575											
CACNA1E	777	broad.mit.edu	37	chr1	181689432	181689432	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttcctcctcttcctcttcatCgttgtctttgctctcctagg	2	19	5	15	1	5	0	1	0	4	0	10	0	8	0	4	1	1	2	4	1	1	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:181689432C>G	ENST00000526775.1	+	14	2007	c.1842C>G	c.(1840-1842)atC>atG	p.I614M	CACNA1E_ENST00000367570.1_Missense_Mutation_p.I614M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.I614M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I221M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I565M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I565M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I614M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	614					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCTCTTCATCGTTGTCTTTG	0.468													4	29					0	0	0	0	G	181689432	C	G	181689432	3	3	87	1	0	0	0	0	1	0	0	0	2567	874	31	3	1896	3	CACNA1E	1	181689432	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	803452	181689432	67561189	38	16576											
NCF2	4688	broad.mit.edu	37	chr1	183543721	183543723	+	In_Frame_Del	DEL	CTT	CTT	-																															tcagcttttttccattcctcCttcttggcatacatgaaagc																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:183543721_183543723delCTT	ENST00000367535.3	-	4	651_653	c.400_402delAAG	c.(400-402)del	p.K134del	NCF2_ENST00000413720.1_Intron|NCF2_ENST00000367536.1_In_Frame_Del_p.K134del|NCF2_ENST00000418089.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	134					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TCCATTCCTCCTTCTTGGCATAC	0.448													13	139	---	---	---	---					-	183543723	CTT	-	183543721	7	5	87	1	0	1	0	1	0	0	0	0	10287	680	24	0	1226	0	NCF2	1	183543721	In_Frame_Del	DEL	CTT	TCGA-CN-5369-01A-01D-1434-08	1854289	183543721	65706900	39	16577											
TNNT2	7139	broad.mit.edu	37	chr1	201333480	201333480	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccggatgcgctgctgctcGgcccgctctgcccgacgtct	2	10	12	17	6	2	0	0	0	2	0	4	2	3	1	3	2	4	4	3	2	0	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:201333480G>T	ENST00000509001.1	-	10	691	c.405C>A	c.(403-405)gcC>gcA	p.A135A	TNNT2_ENST00000367317.4_Silent_p.A135A|TNNT2_ENST00000367322.1_Silent_p.A135A|TNNT2_ENST00000367315.2_Silent_p.A135A|TNNT2_ENST00000367318.5_Silent_p.A135A|TNNT2_ENST00000367320.2_Silent_p.A105A|TNNT2_ENST00000360372.4_Silent_p.A130A|TNNT2_ENST00000421663.2_Silent_p.A137A|TNNT2_ENST00000236918.7_Silent_p.A140A|TNNT2_ENST00000458432.2_Silent_p.A147A	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	145					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GCTGCTGCTCGGCCCGCTCTG	0.642													4	27					0.014758	0.0149293	1	0	T	201333480	G	T	201333480	2	4	87	1	0	0	0	0	0	0	0	1	16425	1103	39	3		3	TNNT2	1	201333480	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	17789759	201333480	47917141	40	16578											
PPFIA4	8497	broad.mit.edu	37	chr1	203025986	203025986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcacaagggcgccaagcGcaagggcatcaagtcgtcca	11	4	12	14	3	1	0	1	0	0	0	3	0	2	0	3	2	2	3	3	2	4	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:203025986G>A	ENST00000367240.2	+	18	2779	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H	PPFIA4_ENST00000295706.4_Missense_Mutation_p.R266H|PPFIA4_ENST00000599966.1_Missense_Mutation_p.R266H|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R479H|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R266H|PPFIA4_ENST00000447715.2_Missense_Mutation_p.R750H			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	266					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGCGCCAAGCGCAAGGGCATC	0.622													8	42					0	0	0	0	A	203025986	G	A	203025986	3	1	87	1	0	0	0	0	1	0	0	0	12383	1087	38	1	819	1	PPFIA4	1	203025986	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1692506	203025986	46224635	41	16579											
MAPKAPK2	9261	broad.mit.edu	37	chr1	206858718	206858718	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttcccgcagttccacgtCaagtccggcctgcagatcaa	9	8	9	15	3	2	1	2	0	0	1	5	1	5	1	4	1	1	4	4	1	2	2	rs150764573		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:206858718C>G	ENST00000367103.3	+	1	337	c.144C>G	c.(142-144)gtC>gtG	p.V48V	MAPKAPK2_ENST00000294981.4_Silent_p.V48V	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	48					activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AGTTCCACGTCAAGTCCGGCC	0.697													3	22					0	0	0	0	G	206858718	C	G	206858718	2	3	87	1	0	0	0	0	0	0	0	1	9358	813	29	2		2	MAPKAPK2	1	206858718	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	3832732	206858718	42391903	42	16580											
USH2A	7399	broad.mit.edu	37	chr1	215960129	215960129	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttatcacagtgcaaaTgtggctggtaaagttgaagt	11	12	10	8	0	2	1	1	1	1	0	2	1	2	1	1	2	1	4	1	2	5	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:215960129T>C	ENST00000366943.2	-	52	10656	c.10270A>G	c.(10270-10272)Att>Gtt	p.I3424V	USH2A_ENST00000307340.3_Missense_Mutation_p.I3424V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3424	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGTGCAAATGTGGCTGGTA	0.463										HNSCC(13;0.011)			6	59					0	0	0	0	C	215960129	T	C	215960129	3	2	87	1	0	0	0	0	1	0	0	0	17132	1464	51	5	5422	5	USH2A	1	215960129	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	9101411	215960129	33290492	43	16581											
ITPKB	3707	broad.mit.edu	37	chr1	226829801	226829801	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcttcttccgggcctTcgtgagctcctcctccaggt	2	12	12	15	2	1	1	0	1	1	0	6	1	5	1	5	3	1	3	5	3	0	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:226829801T>C	ENST00000429204.1	-	5	2599	c.2272A>G	c.(2272-2274)Aag>Gag	p.K758E	ITPKB_ENST00000272117.3_Missense_Mutation_p.K758E	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	758							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TTCCGGGCCTTCGTGAGCTCC	0.647													8	113					0	0	0	0	C	226829801	T	C	226829801	3	2	87	1	0	0	0	0	1	0	0	0	7971	1792	62	5	584	5	ITPKB	1	226829801	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	10869672	226829801	22420820	44	16582											
ITPKB	3707	broad.mit.edu	37	chr1	226924442	226924442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctgtaggggcagcccGgccgggaagaggtggcattc	7	7	17	10	2	0	2	0	1	0	1	2	3	1	3	3	6	1	3	3	6	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:226924442G>A	ENST00000429204.1	-	2	1045	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	ITPKB_ENST00000366784.1_Missense_Mutation_p.R240W|ITPKB_ENST00000272117.3_Missense_Mutation_p.R240W	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	240							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GGGGCAGCCCGGCCGGGAAGA	0.602													8	111					0	0	0	0	A	226924442	G	A	226924442	3	1	87	1	0	0	0	0	1	0	0	0	7971	1115	39	1	2150	1	ITPKB	1	226924442	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	94641	226924442	22326179	45	16583											
OBSCN	84033	broad.mit.edu	37	chr1	228462329	228462329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtcgcagaggagggcGgcgaggccaccttccagtgc	6	5	17	13	4	0	1	0	0	0	1	2	3	1	2	4	5	1	1	4	5	0	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:228462329G>A	ENST00000570156.2	+	24	6939	c.6865G>A	c.(6865-6867)Ggc>Agc	p.G2289S	RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000422127.1_Missense_Mutation_p.G1914S|OBSCN_ENST00000359599.6_Missense_Mutation_p.G761S|OBSCN_ENST00000284548.11_Missense_Mutation_p.G1914S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1274	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGGAGGGCGGCGAGGCCAC	0.632													3	14					0	0	0	0	A	228462329	G	A	228462329	3	1	87	1	0	0	0	0	1	0	0	0	10883	1116	39	1	5814	1	OBSCN	1	228462329	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1537887	228462329	20788292	46	16584											
ZNF124	7678	broad.mit.edu	37	chr1	247319909	247319909	+	Frame_Shift_Del	DEL	T	T	-																															gggcttttctccagtatgagTttttttatgcttccaaaggg																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:247319909delT	ENST00000340684.6	-	4	967	c.829delA	c.(829-831)ctfs	p.T277fs	ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000543802.2_Frame_Shift_Del_p.T339fs	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T277P(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CCAGTATGAGTTTTTTTATGC	0.368													9	61	---	---	---	---					-	247319909	T	-	247319909	7	5	87	1	0	1	0	1	0	0	0	0	17815	1725	60	0	44	0	ZNF124	1	247319909	Frame_Shift_Del	DEL	T	TCGA-CN-5369-01A-01D-1434-08	18857580	247319909	1930712	47	16585											
ADI1	55256	broad.mit.edu	37	chr2	3504681	3504681	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccactggtcctccttgtcCctcacatcgaagtacccact	8	11	5	17	1	1	0	1	0	0	0	6	1	5	0	5	1	1	1	5	1	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:3504681C>T	ENST00000382093.5	-	3	3143	c.306G>A	c.(304-306)agG>agA	p.R102R	ADI1_ENST00000327435.6_Silent_p.R108R			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	108					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCTCCTTGTCCCTCACATCGA	0.542													4	37					0	0	0	0	T	3504681	C	T	3504681	2	4	87	1	0	0	0	0	0	0	0	1	315	622	22	4		4	ADI1	2	3504681	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08		3504681	239694692	48	16586											
WDR35	57539	broad.mit.edu	37	chr2	20138032	20138032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttttttaaataccaaagtCgggggtgtggattgtcctct	8	16	10	7	1	1	0	0	0	1	0	3	1	2	1	2	3	1	0	2	3	4	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:20138032C>T	ENST00000345530.3	-	19	2205	c.2090G>A	c.(2089-2091)cGa>cAa	p.R697Q	WDR35_ENST00000416055.2_Missense_Mutation_p.R262Q|WDR35_ENST00000281405.4_Missense_Mutation_p.R686Q	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	697										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACCAAAGTCGGGGGTGTGG	0.443													8	81					0	0	0	0	T	20138032	C	T	20138032	3	4	87	1	0	0	0	0	1	0	0	0	17385	884	31	1	1495	1	WDR35	2	20138032	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	16633351	20138032	223061341	49	16587											
ITSN2	50618	broad.mit.edu	37	chr2	24443816	24443816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcagcagcctcctcacctCgacgacgagctgaaggtcag	10	5	11	15	3	2	1	2	1	0	0	4	4	3	1	3	1	4	3	3	1	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:24443816C>T	ENST00000355123.4	-	30	4140	c.3697G>A	c.(3697-3699)Gag>Aag	p.E1233K	ITSN2_ENST00000406921.3_Missense_Mutation_p.E1233K|AC009228.1_ENST00000413989.1_RNA|ITSN2_ENST00000361999.3_Missense_Mutation_p.E1206K|AC009228.1_ENST00000430105.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1233	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTCACCTCGACGACGAGC	0.552													10	144					0	0	0	0	T	24443816	C	T	24443816	3	4	87	1	0	0	0	0	1	0	0	0	7980	893	31	1	1491	1	ITSN2	2	24443816	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	4305784	24443816	218755557	50	16588											
NCOA1	8648	broad.mit.edu	37	chr2	24952396	24952396	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggattagatgtattatcagaGagatttccaccacaacaagc	15	10	8	8	0	1	3	1	0	0	3	2	5	2	4	2	1	2	1	2	1	5	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:24952396G>C	ENST00000405141.1	+	18	3624	c.2913G>C	c.(2911-2913)gaG>gaC	p.E971D	NCOA1_ENST00000407230.1_Missense_Mutation_p.E820D|NCOA1_ENST00000348332.3_Missense_Mutation_p.E971D|NCOA1_ENST00000538539.1_Missense_Mutation_p.E971D|NCOA1_ENST00000406961.1_Missense_Mutation_p.E971D|NCOA1_ENST00000395856.3_Missense_Mutation_p.E971D|NCOA1_ENST00000288599.5_Missense_Mutation_p.E971D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	971	Interaction with CREBBP.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATTATCAGAGAGATTTCCAC	0.403			T	PAX3	alveolar rhadomyosarcoma								13	109					0	0	0	0	C	24952396	G	C	24952396	3	2	87	1	0	0	0	0	1	0	0	0	10298	933	33	2	2963	2	NCOA1	2	24952396	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	508580	24952396	218246977	51	16589											
IFT172	26160	broad.mit.edu	37	chr2	27684340	27684340	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttgctgtgtgtccatcagCcactggtagtaactacgacg	8	12	10	11	2	2	0	1	0	1	0	3	1	3	0	2	1	4	3	2	1	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:27684340C>T	ENST00000260570.3	-	22	2341	c.2238G>A	c.(2236-2238)tgG>tgA	p.W746*		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	746					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGTCCATCAGCCACTGGTAGT	0.582													9	115					0	0	0	0	T	27684340	C	T	27684340	4	4	87	1	0	0	0	0	0	1	0	0	7610	740	26	4	3119	4	IFT172	2	27684340	Nonsense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2731944	27684340	215515033	52	16590											
CHAC2	494143	broad.mit.edu	37	chr2	53995077	53995077	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtggatttcccctatcaGgacaagctggtcggatacat	11	10	11	9	1	1	0	1	0	0	0	3	3	2	3	2	5	2	1	2	5	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:53995077G>C	ENST00000295304.4	+	1	149	c.54G>C	c.(52-54)caG>caC	p.Q18H	GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000482829.1_Intron|GPR75-ASB3_ENST00000406687.1_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000498475.2_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	18										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCCCCTATCAGGACAAGCTGG	0.627											OREG0014616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	21					0	0	0	0	C	53995077	G	C	53995077	3	2	87	1	0	0	0	0	1	0	0	0	3338	991	35	4	56	4	CHAC2	2	53995077	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	26310737	53995077	189204296	53	16591											
SPTBN1	6711	broad.mit.edu	37	chr2	54856884	54856884	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcgacgagaaggagcagtgGctcaacaacatgcagatccc	14	5	11	11	2	1	2	1	0	0	2	3	5	2	3	1	2	4	3	1	2	3	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:54856884G>A	ENST00000333896.5	+	13	2959	c.2574G>A	c.(2572-2574)tgG>tgA	p.W858*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.W871*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	871					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGAGCAGTGGCTCAACAACA	0.602													7	36					0	0	0	0	A	54856884	G	A	54856884	4	1	87	1	0	0	0	0	0	1	0	0	15209	1212	42	4	2776	4	SPTBN1	2	54856884	Nonsense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	861807	54856884	188342489	54	16592											
RTKN	6242	broad.mit.edu	37	chr2	74653396	74653396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgactggagccaagtgcGaggttggcctttgctgcaga	7	10	16	8	1	0	2	0	1	0	1	0	4	0	3	2	4	4	3	2	4	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74653396G>A	ENST00000305557.5	-	13	2212	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	RTKN_ENST00000233330.6_Missense_Mutation_p.R506C|RTKN_ENST00000272430.5_Missense_Mutation_p.R556C	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	556	Pro-rich.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						AGCCAAGTGCGAGGTTGGCCT	0.622													13	176					0	0	0	0	A	74653396	G	A	74653396	3	1	87	1	0	0	0	0	1	0	0	0	13807	1058	37	1	29	1	RTKN	2	74653396	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	19796512	74653396	168545977	55	16593											
LBX2	85474	broad.mit.edu	37	chr2	74725408	74725408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacttgcgccgtttgcggccGaagggaccagggcccagcgc	6	5	16	14	5	0	0	0	0	0	0	0	3	0	1	4	3	3	1	4	3	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74725408G>A	ENST00000341396.2	-	2	186	c.62C>T	c.(61-63)tCg>tTg	p.S21L	LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000460508.3_Silent_p.F77F|LBX2_ENST00000377566.4_Silent_p.F81F			Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GTTTGCGGCCGAAGGGACCAG	0.667													3	26					0	0	0	0	A	74725408	G	A	74725408	3	1	87	1	0	0	0	0	1	0	0	0	8707	1049	37	1	357	1	LBX2	2	74725408	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	72012	74725408	168473965	56	16594											
AUP1	550	broad.mit.edu	37	chr2	74756406	74756406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacacatggtccgcactacGaatctggggacacaggaggt	11	6	13	11	2	1	0	0	0	1	0	2	3	2	2	1	5	1	2	1	5	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74756406G>A	ENST00000377526.3	-	3	501	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	87						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						TCCGCACTACGAATCTGGGGA	0.637													4	30					0	0	0	0	A	74756406	G	A	74756406	2	1	87	1	0	0	0	0	0	0	0	1	1224	1049	37	1		1	AUP1	2	74756406	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	30998	74756406	168442967	57	16595											
HTRA2	27429	broad.mit.edu	37	chr2	74758074	74758074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctctgggacgctcagctGatgtccggcaaggggagttt	6	10	15	10	2	2	1	1	1	1	0	3	3	3	3	2	4	2	4	2	4	1	1	rs142306682		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74758074G>A	ENST00000258080.3	+	3	1378	c.748G>A	c.(748-750)Gat>Aat	p.D250N	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	250	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ACGCTCAGCTGATGTCCGGCA	0.552													18	291					0	0	0	0	A	74758074	G	A	74758074	3	1	87	1	0	0	0	0	1	0	0	0	7507	1290	45	2	758	2	HTRA2	2	74758074	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1668	74758074	168441299	58	16596											
CTNNA2	1496	broad.mit.edu	37	chr2	80136879	80136879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggcggagtgcaacgccGtgcggcaggcgctccaggac	6	5	17	13	6	0	0	0	0	0	0	2	2	1	2	2	5	3	3	2	5	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:80136879G>A	ENST00000466387.1	+	11	1736	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	CTNNA2_ENST00000540488.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V338M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V372M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V338M			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	338					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.V338M(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTGCAACGCCGTGCGGCAGGC	0.597													6	59					0	0	0	0	A	80136879	G	A	80136879	3	1	87	1	0	0	0	0	1	0	0	0	4045	1145	40	1		1	CTNNA2	2	80136879	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	5378805	80136879	163062494	59	16597											
TMEM131	23505	broad.mit.edu	37	chr2	98409014	98409014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgggtgggaagggtgtgCgaggggggcgggagacagcc	6	6	23	6	2	1	1	0	0	1	1	1	4	1	2	1	7	2	0	1	7	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:98409014C>T	ENST00000186436.5	-	31	4207	c.3979G>A	c.(3979-3981)Gca>Aca	p.A1327T		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1327	Pro-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAAGGGTGTGCGAGGGGGGCG	0.652													3	15					0	0	0	0	T	98409014	C	T	98409014	3	4	87	1	0	0	0	0	1	0	0	0	16138	768	27	1	1716	1	TMEM131	2	98409014	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	18272135	98409014	144790359	60	16598											
GCC2	9648	broad.mit.edu	37	chr2	109111839	109111839	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcacactgtaacccgggaaGagggagaaggcatggagaca	14	4	15	8	1	0	3	0	0	0	3	0	6	0	4	1	4	2	3	1	4	3	1	rs148279219		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:109111839G>C	ENST00000309863.6	+	20	5254	c.4540G>C	c.(4540-4542)Gag>Cag	p.E1514Q		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1514					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACCCGGGAAGAGGGAGAAGG	0.483													4	39					0	0	0	0	C	109111839	G	C	109111839	3	2	87	1	0	0	0	0	1	0	0	0	6335	943	33	2	4618	2	GCC2	2	109111839	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	10702825	109111839	134087534	61	16599											
RANBP2	5903	broad.mit.edu	37	chr2	109383191	109383191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttaaaaattctcaaaaacGaggtcaatggcaaactaaga	20	8	6	7	1	2	1	2	0	1	1	3	2	2	1	0	2	2	1	0	2	8	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:109383191G>A	ENST00000283195.6	+	20	6322	c.6196G>A	c.(6196-6198)Gag>Aag	p.E2066K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2066	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCTCAAAAACGAGGTCAATGG	0.398													38	414					0	0	0	0	A	109383191	G	A	109383191	3	1	87	1	0	0	0	0	1	0	0	0	13110	1059	37	1	6274	1	RANBP2	2	109383191	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	271352	109383191	133816182	62	16600											
UGGT1	56886	broad.mit.edu	37	chr2	128935448	128935448	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaacgaagacttgctgagtGatggaacgagtgagaatgaa	15	8	14	4	2	0	6	0	5	0	2	0	10	0	7	0	1	3	1	0	1	5	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:128935448G>C	ENST00000375990.3	+	33	3998	c.3595G>C	c.(3595-3597)Gat>Cat	p.D1199H	UGGT1_ENST00000259253.6_Missense_Mutation_p.D1223H			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1223					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTTGCTGAGTGATGGAACGAG	0.388													9	131					0	0	0	0	C	128935448	G	C	128935448	3	2	87	1	0	0	0	0	1	0	0	0	17037	1290	45	2	3797	2	UGGT1	2	128935448	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	19552257	128935448	114263925	63	16601											
ARHGEF4	50649	broad.mit.edu	37	chr2	131803638	131803638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccctgctacctgacgcGccagaagcacccagccctgc	7	4	10	20	3	0	2	0	1	0	1	0	2	0	2	6	1	5	2	6	1	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:131803638G>A	ENST00000326016.5	+	14	2468	c.1949G>A	c.(1948-1950)cGc>cAc	p.R650H	ARHGEF4_ENST00000525839.1_3'UTR|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.R152H|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.R579H|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.R590H|ARHGEF4_ENST00000392953.3_3'UTR	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	650					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TACCTGACGCGCCAGAAGCAC	0.667													11	94					0	0	0	0	A	131803638	G	A	131803638	3	1	87	1	0	0	0	0	1	0	0	0	910	1087	38	1	2087	1	ARHGEF4	2	131803638	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2868190	131803638	111395735	64	16602											
LRP1B	53353	broad.mit.edu	37	chr2	141625775	141625775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttttctcccagcaccactCatagaggcagattcaatgcg	10	11	8	12	1	3	2	2	0	1	2	4	2	3	2	2	1	2	3	2	1	2	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:141625775C>T	ENST00000389484.3	-	26	5198	c.4227G>A	c.(4225-4227)atG>atA	p.M1409I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1409					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGCACCACTCATAGAGGCAG	0.373										TSP Lung(27;0.18)			6	90					0	0	0	0	T	141625775	C	T	141625775	3	4	87	1	0	0	0	0	1	0	0	0	9019	826	29	2	9836	2	LRP1B	2	141625775	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	9822137	141625775	101573598	65	16603											
KYNU	8942	broad.mit.edu	37	chr2	143676239	143676239	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttgggaaattctcttggCcttcaaccaaaaatggttaa	12	14	7	8	0	3	0	1	0	2	0	4	1	3	1	2	3	1	1	2	3	5	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:143676239C>A	ENST00000264170.4	+	3	489	c.231C>A	c.(229-231)ggC>ggA	p.G77G	KYNU_ENST00000375773.2_Silent_p.G77G|KYNU_ENST00000410015.2_Silent_p.G77G|KYNU_ENST00000409512.1_Silent_p.G77G	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	77					anthranilate metabolic process|NAD biosynthetic 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)	ATTCTCTTGGCCTTCAACCAA	0.279													5	51					0.000602214	0.000622628	1	0	A	143676239	C	A	143676239	2	1	87	1	0	0	0	0	0	0	0	1	8640	726	26	4		4	KYNU	2	143676239	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2050464	143676239	99523134	66	16604											
SCN3A	6328	broad.mit.edu	37	chr2	165947702	165947702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccgatgttaaacaacGcaggaagggacatcatcaaa	16	5	12	8	2	2	0	2	0	0	0	2	4	2	3	1	4	2	2	1	4	5	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:165947702G>A	ENST00000360093.3	-	28	5452	c.4961C>T	c.(4960-4962)gCg>gTg	p.A1654V	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.A1654V|SCN3A_ENST00000409101.3_Missense_Mutation_p.A1605V|SCN3A_ENST00000540861.1_Missense_Mutation_p.A137V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1654						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTAAACAACGCAGGAAGGGA	0.483													7	163					0	0	0	0	A	165947702	G	A	165947702	3	1	87	1	0	0	0	0	1	0	0	0	14005	1087	38	1	1045	1	SCN3A	2	165947702	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	22271463	165947702	77251671	67	16605											
XIRP2	129446	broad.mit.edu	37	chr2	168100981	168100981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttgaaacaaggcccattGaccagtttgatgaaagcatt	13	13	8	7	0	0	4	0	4	0	0	0	4	0	4	2	1	2	2	2	1	3	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:168100981G>A	ENST00000409195.1	+	9	3168	c.3079G>A	c.(3079-3081)Gac>Aac	p.D1027N	XIRP2_ENST00000409273.1_Missense_Mutation_p.D805N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1027N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	852					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						AAGGCCCATTGACCAGTTTGA	0.368													5	66					0	0	0	0	A	168100981	G	A	168100981	3	1	87	1	0	0	0	0	1	0	0	0	17526	1290	45	2	3109	2	XIRP2	2	168100981	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2153279	168100981	75098392	68	16606											
G6PC2	57818	broad.mit.edu	37	chr2	169757994	169757994	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgttttcaatttaatcaGacagttggaaccaagatgat	13	15	7	6	0	2	3	2	1	0	2	2	4	2	4	1	1	1	2	1	1	4	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:169757994G>C	ENST00000375363.3	+	1	245	c.153G>C	c.(151-153)caG>caC	p.Q51H	G6PC2_ENST00000421979.1_Missense_Mutation_p.Q51H|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000429379.2_Missense_Mutation_p.Q51H	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	51					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AATTTAATCAGACAGTTGGAA	0.313													6	49					0	0	0	0	C	169757994	G	C	169757994	3	2	87	1	0	0	0	0	1	0	0	0	6192	933	33	2	155	2	G6PC2	2	169757994	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1657013	169757994	73441379	69	16607											
FASTKD1	79675	broad.mit.edu	37	chr2	170428478	170428478	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctccaggagaatggacaaAtagctcttagacgaagcata	15	8	9	9	1	2	2	0	0	2	2	3	5	2	3	1	2	2	2	1	2	6	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:170428478A>C	ENST00000453153.2	-	2	408	c.62T>G	c.(61-63)aTt>aGt	p.I21S	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I21S	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	21					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GAATGGACAAATAGCTCTTAG	0.358													8	52					0	0	0	0	C	170428478	A	C	170428478	3	2	87	1	0	0	0	0	1	0	0	0	5730	101	4	5	2537	5	FASTKD1	2	170428478	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	670484	170428478	72770895	70	16608											
PHOSPHO2	493911	broad.mit.edu	37	chr2	170558169	170558169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtttggtcctcaggtgttGatataatttctcatttacaa	10	18	7	6	0	2	1	2	1	1	0	4	1	3	1	1	2	1	2	1	2	5	8			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:170558169G>C	ENST00000359744.3	+	4	1076	c.688G>C	c.(688-690)Gat>Cat	p.D230H	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	230							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						CTCAGGTGTTGATATAATTTC	0.338													9	58					0	0	0	0	C	170558169	G	C	170558169	3	2	87	1	0	0	0	0	1	0	0	0	11929	1290	45	2	690	2	PHOSPHO2	2	170558169	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	129691	170558169	72641204	71	16609											
CHN1	1123	broad.mit.edu	37	chr2	175742857	175742857	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctggtttgacttccaaatCtgcctcaatgaaatgggaaa	12	13	8	8	0	3	2	1	2	2	0	4	3	4	3	2	2	1	1	2	2	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:175742857C>T	ENST00000409900.3	-	6	574		c.e6-1		CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Splice_Site	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			ACTTCCAAATCTGCCTCAATG	0.378			T	TAF15	extraskeletal myxoid chondrosarcoma								3	28					0	0	0	0	T	175742857	C	T	175742857	5	4	87	1	0	0	0	0	0	0	1	0	3391	927	32	2	1151	2	CHN1	2	175742857	Splice_Site	SNP	C	TCGA-CN-5369-01A-01D-1434-08	5184688	175742857	67456516	72	16610											
HOXD8	3234	broad.mit.edu	37	chr2	176995417	176995417	+	Frame_Shift_Del	DEL	C	C	-																															ggccgctgcctaccaggccgCcccccctcctcctccgcatc																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:176995417delC	ENST00000313173.4	+	1	950	c.323delC	c.(322-324)gcfs	p.A108fs	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000544999.1_Frame_Shift_Del_p.A108fs|HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000450510.2_Frame_Shift_Del_p.A108fs	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	108					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TACCAGGCCGccccccctcct	0.741													8	72	---	---	---	---					-	176995417	C	-	176995417	7	5	87	1	0	1	0	1	0	0	0	0	7375	739	26	0	325	0	HOXD8	2	176995417	Frame_Shift_Del	DEL	C	TCGA-CN-5369-01A-01D-1434-08	1252560	176995417	66203956	73	16611											
TTN	7273	broad.mit.edu	37	chr2	179449452	179449452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctctgaaatgccaaatCggttttcagcacggacccgg	10	8	12	11	3	2	1	1	1	1	0	3	3	2	2	2	4	2	3	2	4	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:179449452C>A	ENST00000589042.1	-	310	65140	c.64916G>T	c.(64915-64917)cGa>cTa	p.R21639L	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12766L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19071L|TTN_ENST00000460472.2_Missense_Mutation_p.R12574L|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12699L|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19998L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19998	Fibronectin type-III 57.						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)			AATGCCAAATCGGTTTTCAGC	0.468													8	210					0.000442599	0.000462304	1	0	A	179449452	C	A	179449452	3	1	87	1	0	0	0	0	1	0	0	0	16831	884	31	3	43275	3	TTN	2	179449452	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2454035	179449452	63749921	74	16612											
ITGA4	3676	broad.mit.edu	37	chr2	182350666	182350666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgacaaatatgctgcaaGatttggggaatctatagtta	15	12	10	4	0	1	2	0	1	1	1	1	3	1	3	0	2	2	3	0	2	8	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:182350666G>A	ENST00000397033.2	+	10	1530	c.1100G>A	c.(1099-1101)aGa>aAa	p.R367K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	367					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TATGCTGCAAGATTTGGGGAA	0.363													18	107					0	0	0	0	A	182350666	G	A	182350666	3	1	87	1	0	0	0	0	1	0	0	0	7931	942	33	2	1138	2	ITGA4	2	182350666	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2901214	182350666	60848707	75	16613											
CASP8	841	broad.mit.edu	37	chr2	202141631	202141631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaattttgcaaaagcaCgggagaaagtgcccaaactt	16	8	8	9	1	1	1	1	0	0	1	1	2	1	1	1	1	4	2	1	1	5	3	rs17860424		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:202141631C>T	ENST00000358485.4	+	7	1115	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	CASP8_ENST00000323492.7_Missense_Mutation_p.R233W|CASP8_ENST00000392258.3_Missense_Mutation_p.T226M|CASP8_ENST00000392259.2_Missense_Mutation_p.T226M|CASP8_ENST00000392266.3_Missense_Mutation_p.T211M|CASP8_ENST00000432109.2_Missense_Mutation_p.R248W|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000264275.5_Missense_Mutation_p.R265W	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	248					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGCAAAAGCACGGGAGAAAGT	0.393										HNSCC(4;0.00038)			6	43					0	0	0	0	T	202141631	C	T	202141631	3	4	87	1	0	0	0	0	1	0	0	0	2702	536	19	1	1045	1	CASP8	2	202141631	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	19790965	202141631	41057742	76	16614											
STRADB	55437	broad.mit.edu	37	chr2	202342454	202342454	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggcatagggctgtgtatGatttcccacagttcagcaca	11	10	11	9	0	1	2	1	1	0	1	2	2	2	2	1	2	1	5	1	2	2	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:202342454G>C	ENST00000194530.3	+	8	1026	c.661G>C	c.(661-663)Gat>Cat	p.D221H	STRADB_ENST00000392249.2_Missense_Mutation_p.D221H	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	221	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GGCTGTGTATGATTTCCCACA	0.522													17	110					0	0	0	0	C	202342454	G	C	202342454	3	2	87	1	0	0	0	0	1	0	0	0	15415	1290	45	2	687	2	STRADB	2	202342454	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	200823	202342454	40856919	77	16615											
MAP2	4133	broad.mit.edu	37	chr2	210574652	210574652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atacagggtcagagccaattCgcagagcagggaagagtggt	13	6	15	7	1	1	3	1	0	0	3	2	4	1	4	1	3	3	2	1	3	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:210574652C>T	ENST00000360351.4	+	12	5253	c.4747C>T	c.(4747-4749)Cgc>Tgc	p.R1583C	MAP2_ENST00000447185.1_Missense_Mutation_p.R1579C|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000361559.4_Missense_Mutation_p.R227C|MAP2_ENST00000392194.1_Missense_Mutation_p.R227C|MAP2_ENST00000199940.6_Missense_Mutation_p.R284C	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1583					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGAGCCAATTCGCAGAGCAGG	0.498													12	58					0	0	0	0	T	210574652	C	T	210574652	3	4	87	1	0	0	0	0	1	0	0	0	9304	884	31	1	4956	1	MAP2	2	210574652	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	8232198	210574652	32624721	78	16616											
CUL3	8452	broad.mit.edu	37	chr2	225365164	225365164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgggccaatatcctgtcGtgagcacccggactgtaaga	10	8	13	10	2	0	2	0	1	0	1	2	4	1	3	3	2	1	2	3	2	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:225365164G>A	ENST00000264414.4	-	11	1864	c.1526C>T	c.(1525-1527)aCg>aTg	p.T509M	CUL3_ENST00000409096.1_Missense_Mutation_p.T485M|CUL3_ENST00000409777.1_Missense_Mutation_p.T485M|CUL3_ENST00000344951.4_Missense_Mutation_p.T443M	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	509					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATATCCTGTCGTGAGCACCCG	0.423													8	108					0	0	0	0	A	225365164	G	A	225365164	3	1	87	1	0	0	0	0	1	0	0	0	4088	1145	40	1	804	1	CUL3	2	225365164	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	14790512	225365164	17834209	79	16617											
SPHKAP	80309	broad.mit.edu	37	chr2	228881385	228881385	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttagaatctaaagggctgtgGtttgtaagagaagcagtttt	12	14	12	3	0	1	2	0	0	1	2	1	3	1	2	0	2	1	5	0	2	6	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:228881385G>A	ENST00000392056.3	-	7	4231	c.4185C>T	c.(4183-4185)aaC>aaT	p.N1395N	SPHKAP_ENST00000344657.5_Silent_p.N1395N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1395						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGGGCTGTGGTTTGTAAGAG	0.463													25	135					0	0	0	0	A	228881385	G	A	228881385	2	1	87	1	0	0	0	0	0	0	0	1	15138	1252	44	4		4	SPHKAP	2	228881385	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3516221	228881385	14317988	80	16618											
SPHKAP	80309	broad.mit.edu	37	chr2	228883163	228883163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggggttcttgaagaggcCtggcctcactccacccttgt	5	11	12	13	1	2	2	1	1	1	1	3	2	3	2	4	4	0	1	4	4	1	3	rs146520315	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:228883163C>A	ENST00000392056.3	-	7	2453	c.2407G>T	c.(2407-2409)Ggc>Tgc	p.G803C	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G803C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	803						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGAAGAGGCCTGGCCTCACT	0.463													20	147					1.28384e-07	1.40097e-07	1	0	A	228883163	C	A	228883163	3	1	87	1	0	0	0	0	1	0	0	0	15138	681	24	4	2719	4	SPHKAP	2	228883163	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1778	228883163	14316210	81	16619											
GBX2	2637	broad.mit.edu	37	chr2	237074823	237074823	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtggaactccttctctagctCcagcagctgctcgctggtga	6	11	11	13	1	1	1	0	1	1	0	5	2	3	2	2	2	5	5	2	2	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:237074823C>G	ENST00000306318.4	-	2	1178	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	261						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		TTCTCTAGCTCCAGCAGCTGC	0.647													4	68					0	0	0	0	G	237074823	C	G	237074823	3	3	87	1	0	0	0	0	1	0	0	0	6330	864	30	2	269	2	GBX2	2	237074823	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	8191660	237074823	6124550	82	16620											
PRR21	643905	broad.mit.edu	37	chr2	240981426	240981426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgaagagacgtggatgaaGaggcatggacgaagggccgt	12	5	19	5	3	0	4	0	2	0	2	0	8	0	6	1	5	0	1	1	5	3	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:240981426G>C	ENST00000408934.1	-	1	973	c.974C>G	c.(973-975)tCt>tGt	p.S325C		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	325										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						CGTGGATGAAGAGGCATGGAC	0.597													23	129					0	0	0	0	C	240981426	G	C	240981426	3	2	87	1	0	0	0	0	1	0	0	0	12672	942	33	2	198	2	PRR21	2	240981426	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3906603	240981426	2217947	83	16621											
TTLL3	26140	broad.mit.edu	37	chr3	9862377	9862377	+	Frame_Shift_Del	DEL	C	C	-																															ggaggccccgctgtacctcaCccccgagggctggtccctct																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:9862377delC	ENST00000383827.1	+	1	2322	c.41delC	c.(40-42)acfs	p.T14fs	TTLL3_ENST00000547186.1_Frame_Shift_Del_p.T226fs|TTLL3_ENST00000427853.3_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000397241.1_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000426895.4_Frame_Shift_Del_p.T369fs|ARPC4-TTLL3_ENST00000397256.1_Frame_Shift_Del_p.T287fs|TTLL3_ENST00000430793.1_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000455274.1_Frame_Shift_Del_p.T14fs			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	226					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CTGTACCTCACCCCCGAGGGC	0.602													12	77	---	---	---	---					-	9862377	C	-	9862377	7	5	87	1	0	1	0	1	0	0	0	0	16824	507	18	0	699	0	TTLL3	3	9862377	Frame_Shift_Del	DEL	C	TCGA-CN-5369-01A-01D-1434-08		9862377	188160053	84	16622											
HRH1	3269	broad.mit.edu	37	chr3	11302128	11302128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgaaccccctcatctacCccttgtgcaatgagaacttc	10	10	5	16	0	2	2	1	2	1	1	3	3	2	2	4	0	4	1	4	0	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:11302128C>T	ENST00000397056.1	+	3	1596	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S	HRH1_ENST00000438284.2_Missense_Mutation_p.P469S|HRH1_ENST00000431010.2_Missense_Mutation_p.P469S	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	469					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CCTCATCTACCCCTTGTGCAA	0.458													19	173					0	0	0	0	T	11302128	C	T	11302128	3	4	87	1	0	0	0	0	1	0	0	0	7405	623	22	4	1407	4	HRH1	3	11302128	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1439751	11302128	186720302	85	16623											
STT3B	201595	broad.mit.edu	37	chr3	31665334	31665334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctagtccaagtgtagtcctgGcctcatacaatcatgatggg	10	11	10	10	0	2	1	2	1	0	0	4	1	4	1	3	2	1	1	3	2	5	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:31665334G>A	ENST00000295770.2	+	11	1917	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	570					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TGTAGTCCTGGCCTCATACAA	0.373													8	90					0	0	0	0	A	31665334	G	A	31665334	3	1	87	1	0	0	0	0	1	0	0	0	15424	1203	42	4	1750	4	STT3B	3	31665334	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	20363206	31665334	166357096	86	16624											
ZNF860	344787	broad.mit.edu	37	chr3	32030595	32030595	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacgtgaggaagcagctcaGaagaggaaagaaaaggagcc	17	4	14	6	1	1	4	1	1	0	3	1	7	1	7	1	3	4	2	1	3	6	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:32030595G>C	ENST00000360311.4	+	2	573	c.24G>C	c.(22-24)caG>caC	p.Q8H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGCAGCTCAGAAGAGGAAAG	0.468													5	84					0	0	0	0	C	32030595	G	C	32030595	3	2	87	1	0	0	0	0	1	0	0	0	18287	933	33	2	26	2	ZNF860	3	32030595	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	365261	32030595	165991835	87	16625											
MLH1	4292	broad.mit.edu	37	chr3	37059048	37059048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccatagaaacagtgtatgCagcctatttgcccaaaaaca	16	8	7	10	0	0	1	0	0	0	1	0	1	0	1	3	0	6	2	3	0	6	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:37059048C>T	ENST00000231790.2	+	10	1058	c.842C>T	c.(841-843)gCa>gTa	p.A281V	MLH1_ENST00000539477.1_Missense_Mutation_p.A40V|MLH1_ENST00000536378.1_Missense_Mutation_p.A40V|MLH1_ENST00000435176.1_Missense_Mutation_p.A183V|MLH1_ENST00000455445.2_Missense_Mutation_p.A40V|MLH1_ENST00000458205.2_Missense_Mutation_p.A40V	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	281			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ACAGTGTATGCAGCCTATTTG	0.428		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	85					0	0	0	0	T	37059048	C	T	37059048	3	4	87	1	0	0	0	0	1	0	0	0	9686	710	25	4	880	4	MLH1	3	37059048	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	5028453	37059048	160963382	88	16626											
CCR2	729230	broad.mit.edu	37	chr3	46400039	46400039	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttctacagggagacagtgGatggagtgacttcaacaaac	13	10	11	7	0	2	2	1	1	1	1	2	5	2	4	0	3	3	0	0	3	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:46400039G>C	ENST00000445132.2	+	2	1516	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H	CCR2_ENST00000400888.2_Intron|CCR2_ENST00000292301.4_Intron|CCR2_ENST00000465202.1_3'UTR	NM_001123396.1	NP_001116868.1	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	0					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GGAGACAGTGGATGGAGTGAC	0.473													4	32					0	0	0	0	C	46400039	G	C	46400039	3	2	87	1	0	0	0	0	1	0	0	0	2970	1174	41	2	1023	2	CCR2	3	46400039	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	9340991	46400039	151622391	89	16627											
RTP3	83597	broad.mit.edu	37	chr3	46542332	46542332	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaggaacttaagcattttCtgctgttgtgtcattctcat	8	18	8	7	0	3	0	2	0	2	0	4	1	3	1	0	1	3	4	0	1	3	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:46542332C>G	ENST00000296142.3	+	2	1214	c.642C>G	c.(640-642)ttC>ttG	p.F214L		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	214					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TAAGCATTTTCTGCTGTTGTG	0.408													8	103					0	0	0	0	G	46542332	C	G	46542332	3	3	87	1	0	0	0	0	1	0	0	0	13820	912	32	2	648	2	RTP3	3	46542332	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	142293	46542332	151480098	90	16628											
SCAP	22937	broad.mit.edu	37	chr3	47462227	47462227	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttggctgagggcaggcaGgcctcagggggcagtcgctt	5	7	19	10	1	1	1	1	1	0	0	2	1	1	1	1	7	0	6	1	7	0	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:47462227G>T	ENST00000265565.5	-	12	1792	c.1380C>A	c.(1378-1380)gcC>gcA	p.A460A	SCAP_ENST00000545718.1_Silent_p.A68A|SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Silent_p.A205A	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	460					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	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi 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)		AGGGCAGGCAGGCCTCAGGGG	0.657											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	36					0.000602214	0.000622628	1	0	T	47462227	G	T	47462227	2	4	87	1	0	0	0	0	0	0	0	1	13963	987	35	4		4	SCAP	3	47462227	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	919895	47462227	150560203	91	16629											
AMT	275	broad.mit.edu	37	chr3	49455119	49455119	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcgccacattcttcttcaGagagggggaggggcagccac	9	7	13	12	1	3	1	1	0	2	1	4	3	3	2	2	4	1	1	2	4	0	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:49455119G>A	ENST00000273588.3	-	9	1368	c.1066C>T	c.(1066-1068)Ctg>Ttg	p.L356L	AMT_ENST00000538581.1_Silent_p.L300L|AMT_ENST00000546031.1_Silent_p.L259L|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000395338.2_Silent_p.L356L|AMT_ENST00000458307.2_Silent_p.L312L	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	356					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TTCTTCTTCAGAGAGGGGGAG	0.592													15	115					0	0	0	0	A	49455119	G	A	49455119	2	1	87	1	0	0	0	0	0	0	0	1	589	933	33	2		2	AMT	3	49455119	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1992892	49455119	148567311	92	16630											
BSN	8927	broad.mit.edu	37	chr3	49698774	49698774	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactatgaggtgatcgccAgccccgttgtgcccatgtct	7	10	10	14	2	1	2	0	2	1	0	2	2	1	2	5	1	3	1	5	1	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:49698774A>G	ENST00000296452.4	+	6	9610	c.9496A>G	c.(9496-9498)Agc>Ggc	p.S3166G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3166					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGTGATCGCCAGCCCCGTTGT	0.627													5	52					0	0	0	0	G	49698774	A	G	49698774	3	3	87	1	0	0	0	0	1	0	0	0	1538	188	7	5	9518	5	BSN	3	49698774	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	243655	49698774	148323656	93	16631											
RBM6	10180	broad.mit.edu	37	chr3	50006080	50006080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagaagcatggagtaccgtGatgtggatcataggctgcca	12	8	13	8	1	1	2	1	1	0	1	1	4	1	4	2	3	3	3	2	3	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:50006080G>A	ENST00000443081.1	+	3	1745	c.826G>A	c.(826-828)Gat>Aat	p.D276N	RBM6_ENST00000266022.4_Missense_Mutation_p.D408N|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	408					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GGAGTACCGTGATGTGGATCA	0.522													4	64					0	0	0	0	A	50006080	G	A	50006080	3	1	87	1	0	0	0	0	1	0	0	0	13226	1290	45	2	1228	2	RBM6	3	50006080	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	307306	50006080	148016350	94	16632											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50683648	50683648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagaggaggattcgcctggGccagtacggcttccccaatc	9	7	13	12	2	0	1	0	0	0	1	3	4	1	3	4	4	1	2	4	4	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:50683648G>A	ENST00000446044.1	+	10	1378	c.782G>A	c.(781-783)gGc>gAc	p.G261D	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.G261D	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	261	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		ATTCGCCTGGGCCAGTACGGC	0.592													11	171					0	0	0	0	A	50683648	G	A	50683648	3	1	87	1	0	0	0	0	1	0	0	0	9359	1203	42	4	808	4	MAPKAPK3	3	50683648	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	677568	50683648	147338782	95	16633											
LRTM1	57408	broad.mit.edu	37	chr3	54958711	54958711	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaattgcatttccagaggTtgtccttgagaagtaaaagc	12	11	11	7	0	0	2	0	1	0	2	2	3	2	2	2	2	2	4	2	2	4	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:54958711T>C	ENST00000273286.5	-	2	701	c.539A>G	c.(538-540)aAc>aGc	p.N180S	CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.N104S|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	180	LRRCT.					integral to membrane				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)		TTTCCAGAGGTTGTCCTTGAG	0.463													6	127					0	0	0	0	C	54958711	T	C	54958711	3	2	87	1	0	0	0	0	1	0	0	0	9108	1725	60	5	506	5	LRTM1	3	54958711	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	4275063	54958711	143063719	96	16634											
SHQ1	55164	broad.mit.edu	37	chr3	72799729	72799729	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctcagatggactatctttGagttcatcttgttctgaatc	8	17	8	8	0	5	3	2	2	4	1	7	4	5	4	0	1	0	2	0	1	2	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:72799729G>A	ENST00000325599.8	-	11	1579	c.1440C>T	c.(1438-1440)ctC>ctT	p.L480L	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Silent_p.L452L	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	480	Ser-rich.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GACTATCTTTGAGTTCATCTT	0.468													7	111					0	0	0	0	A	72799729	G	A	72799729	2	1	87	1	0	0	0	0	0	0	0	1	14380	1277	45	2		2	SHQ1	3	72799729	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	17841018	72799729	125222701	97	16635											
GXYLT2	727936	broad.mit.edu	37	chr3	73004381	73004381	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagccatggcccctgagcacGaaatccccaagattggctgg	10	6	11	14	1	0	2	0	1	0	1	1	3	1	2	5	3	2	2	5	3	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:73004381G>C	ENST00000389617.4	+	4	894	c.733G>C	c.(733-735)Gaa>Caa	p.E245Q		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	245					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						CCCTGAGCACGAAATCCCCAA	0.493													5	37					0	0	0	0	C	73004381	G	C	73004381	3	2	87	1	0	0	0	0	1	0	0	0	6954	1059	37	3	747	3	GXYLT2	3	73004381	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	204652	73004381	125018049	98	16636											
STXBP5L	9515	broad.mit.edu	37	chr3	120977960	120977960	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattcaattggtgtgggtaGatggtgaacctccacaacag	11	12	11	7	0	1	2	1	1	0	1	2	2	2	2	2	3	2	1	2	3	5	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:120977960G>C	ENST00000273666.6	+	18	2174	c.1903G>C	c.(1903-1905)Gat>Cat	p.D635H	STXBP5L_ENST00000492541.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D635H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	635					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGTGTGGGTAGATGGTGAACC	0.348													4	58					0	0	0	0	C	120977960	G	C	120977960	3	2	87	1	0	0	0	0	1	0	0	0	15447	942	33	2	1969	2	STXBP5L	3	120977960	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	47973579	120977960	77044470	99	16637											
KALRN	8997	broad.mit.edu	37	chr3	124397074	124397074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atactctacgcatgagaaagCgggcggaagtggagaacacg	14	5	14	8	4	1	2	0	1	1	2	1	5	1	3	0	3	4	1	0	3	5	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:124397074C>T	ENST00000360013.3	+	50	7358	c.7231C>T	c.(7231-7233)Cgg>Tgg	p.R2411W	KALRN_ENST00000428018.2_Missense_Mutation_p.R682W|KALRN_ENST00000462213.1_Missense_Mutation_p.R28W|KALRN_ENST00000291478.4_Missense_Mutation_p.R714W	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2410					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CATGAGAAAGCGGGCGGAAGT	0.483													23	119					0	0	0	0	T	124397074	C	T	124397074	3	4	87	1	0	0	0	0	1	0	0	0	8028	759	27	1	7585	1	KALRN	3	124397074	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	3419114	124397074	73625356	100	16638											
SLC12A8	84561	broad.mit.edu	37	chr3	124839464	124839464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatgccaacagctgccaggGagcccgggggaatgctggcg	9	4	17	11	2	0	1	0	0	0	1	0	3	0	3	3	4	6	2	3	4	2	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:124839464G>A	ENST00000423114.2	-	7	889	c.890C>T	c.(889-891)tCc>tTc	p.S297F	SLC12A8_ENST00000469902.1_Missense_Mutation_p.S268F|SLC12A8_ENST00000393469.4_Missense_Mutation_p.S268F|SLC12A8_ENST00000314584.7_Missense_Mutation_p.S21F|SLC12A8_ENST00000430155.2_Missense_Mutation_p.S69F|SLC12A8_ENST00000465475.1_5'UTR			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	268					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						AGCTGCCAGGGAGCCCGGGGG	0.597													3	25					0	0	0	0	A	124839464	G	A	124839464	3	1	87	1	0	0	0	0	1	0	0	0	14477	1174	41	2	1373	2	SLC12A8	3	124839464	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	442390	124839464	73182966	101	16639											
EEFSEC	60678	broad.mit.edu	37	chr3	128060436	128060436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagcagtacctgtccaagGatttgacaccagcagtgaca	13	7	11	10	0	0	2	0	2	0	0	1	4	1	4	3	2	3	3	3	2	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:128060436G>T	ENST00000254730.6	+	5	1201	c.1147G>T	c.(1147-1149)Gat>Tat	p.D383Y	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Missense_Mutation_p.D328Y	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	383						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCTGTCCAAGGATTTGACACC	0.532													4	53					0.000602214	0.000622628	1	0	T	128060436	G	T	128060436	3	4	87	1	0	0	0	0	1	0	0	0	4967	1174	41	2	1165	2	EEFSEC	3	128060436	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3220972	128060436	69961994	102	16640											
NMD3	51068	broad.mit.edu	37	chr3	160968692	160968692	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaaggtgcatcaatgctGacataatgagatgttgtaga	15	10	12	4	0	1	4	1	2	0	3	1	6	1	4	0	1	2	4	0	1	5	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:160968692G>C	ENST00000460469.1	+	15	1961	c.1506G>C	c.(1504-1506)ctG>ctC	p.L502L	NMD3_ENST00000351193.2_Silent_p.L502L|NMD3_ENST00000472947.1_Intron			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	502	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CATCAATGCTGACATAATGAG	0.433													5	91					0	0	0	0	C	160968692	G	C	160968692	2	2	87	1	0	0	0	0	0	0	0	1	10558	1277	45	2		2	NMD3	3	160968692	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	32908256	160968692	37053738	103	16641											
SPATA16	83893	broad.mit.edu	37	chr3	172642075	172642075	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccatttgcctcactgtatCttctctggtcagaccgaaag	8	13	7	13	1	4	1	2	0	2	1	6	2	5	1	3	1	1	1	3	1	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:172642075C>G	ENST00000351008.3	-	8	1444	c.1261G>C	c.(1261-1263)Gat>Cat	p.D421H		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	421					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTCACTGTATCTTCTCTGGTC	0.328													4	69					0	0	0	0	G	172642075	C	G	172642075	3	3	87	1	0	0	0	0	1	0	0	0	15091	913	32	2	464	2	SPATA16	3	172642075	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	11673383	172642075	25380355	104	16642											
MFN1	55669	broad.mit.edu	37	chr3	179096140	179096140	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttaacaggaattaaataaGcacatagaggatggtatggg	16	10	12	3	0	0	1	0	0	0	1	0	3	0	3	0	4	2	3	0	4	7	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:179096140G>A	ENST00000471841.1	+	13	1467	c.1341G>A	c.(1339-1341)aaG>aaA	p.K447K	MFN1_ENST00000263969.5_Silent_p.K447K|MFN1_ENST00000280653.7_Intron	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	447					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AATTAAATAAGCACATAGAGG	0.318													6	59					0	0	0	0	A	179096140	G	A	179096140	2	1	87	1	0	0	0	0	0	0	0	1	9592	962	34	4		4	MFN1	3	179096140	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	6454065	179096140	18926290	105	16643											
ZNF721	170960	broad.mit.edu	37	chr4	436405	436406	+	Frame_Shift_Del	DEL	CT	CT	-																															catacaaagtctttgccacaCtcttcacatttgtaaagttt																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:436405_436406delCT	ENST00000338977.5	-	2	1862_1863	c.1814_1815delAG	c.(1813-1815)gfs	p.E605fs	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Frame_Shift_Del_p.E617fs					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CTTTGCCACACTCTTCACATTT	0.411													31	267	---	---	---	---					-	436406	CT	-	436405	7	5	87	1	0	1	0	1	0	0	0	0	18217	564	20	0	924	0	ZNF721	4	436405	Frame_Shift_Del	DEL	CT	TCGA-CN-5369-01A-01D-1434-08		436405	190717871	106	16644											
ZNF721	170960	broad.mit.edu	37	chr4	437477	437477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttagcaaagcttgaggatGaggaaatgactttgccacat	13	11	11	6	0	0	3	0	3	0	0	0	5	0	5	1	2	3	3	1	2	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:437477G>A	ENST00000338977.5	-	2	791	c.743C>T	c.(742-744)tCa>tTa	p.S248L	ZNF721_ENST00000511833.2_Missense_Mutation_p.S260L|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GCTTGAGGATGAGGAAATGAC	0.378													4	57					0	0	0	0	A	437477	G	A	437477	3	1	87	1	0	0	0	0	1	0	0	0	18217	1294	45	2	1996	2	ZNF721	4	437477	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1072	437477	190716799	107	16645											
TACC3	10460	broad.mit.edu	37	chr4	1729444	1729444	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttttaaaagccaacagctCatcaaggaagtggatgccaa	15	9	8	9	0	3	0	2	0	1	0	3	2	3	2	2	2	4	1	2	2	6	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:1729444C>T	ENST00000313288.4	+	4	421	c.315C>T	c.(313-315)ctC>ctT	p.L105L		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	105						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCCAACAGCTCATCAAGGAAG	0.483													31	350					0	0	0	0	T	1729444	C	T	1729444	2	4	87	1	0	0	0	0	0	0	0	1	15594	813	29	2		2	TACC3	4	1729444	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1291967	1729444	189424832	108	16646											
ABLIM2	84448	broad.mit.edu	37	chr4	8021986	8021986	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggggggcggcttgctgtCagagagcacggagaggctgg	7	5	22	7	2	1	2	1	0	0	2	1	5	1	3	0	8	2	4	0	8	0	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:8021986C>G	ENST00000296372.8	-	12	1355	c.1213G>C	c.(1213-1215)Gac>Cac	p.D405H	ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000341937.5_Missense_Mutation_p.D405H|ABLIM2_ENST00000447017.2_Missense_Mutation_p.D438H|ABLIM2_ENST00000361581.5_Missense_Mutation_p.D405H|ABLIM2_ENST00000545242.1_Missense_Mutation_p.D405H|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000514025.1_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	405					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGCTTGCTGTCAGAGAGCACG	0.622													5	36					0	0	0	0	G	8021986	C	G	8021986	3	3	87	1	0	0	0	0	1	0	0	0	95	826	29	2	678	2	ABLIM2	4	8021986	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	6292542	8021986	183132290	109	16647											
HS3ST1	9957	broad.mit.edu	37	chr4	11401039	11401039	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagttctgcatgtgcacGtggtagaggctgcggttgag	7	10	16	8	2	1	2	0	1	1	1	1	2	1	2	1	3	4	6	1	3	1	3	rs138931078	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:11401039G>A	ENST00000002596.5	-	2	1765	c.591C>T	c.(589-591)caC>caT	p.H197H		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	197						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCATGTGCACGTGGTAGAGGC	0.597													6	44					0	0	0	0	A	11401039	G	A	11401039	2	1	87	1	0	0	0	0	0	0	0	1	7413	1136	40	1		1	HS3ST1	4	11401039	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3379053	11401039	179753237	110	16648											
TBC1D1	23216	broad.mit.edu	37	chr4	38016216	38016216	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtccgagttcgacgacacGttttccaagaagttcgaggt	9	10	11	11	6	0	1	0	0	0	1	4	5	2	1	3	1	0	3	3	1	2	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:38016216G>A	ENST00000261439.4	+	3	859	c.504G>A	c.(502-504)acG>acA	p.T168T	TBC1D1_ENST00000508802.1_Silent_p.T168T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	168						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCGACGACACGTTTTCCAAGA	0.617													11	125					0	0	0	0	A	38016216	G	A	38016216	2	1	87	1	0	0	0	0	0	0	0	1	15688	1132	40	1		1	TBC1D1	4	38016216	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	26615177	38016216	153138060	111	16649											
TLR10	81793	broad.mit.edu	37	chr4	38776845	38776845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtcattaaaagaaagatCtaaatacctgagacctgcca	19	8	6	8	0	2	3	1	1	1	3	2	4	2	3	3	0	2	0	3	0	7	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:38776845C>T	ENST00000308973.4	-	4	972	c.367G>A	c.(367-369)Gat>Aat	p.D123N	TLR10_ENST00000506111.1_Missense_Mutation_p.D123N|TLR10_ENST00000508334.1_Missense_Mutation_p.D123N|TLR10_ENST00000361424.2_Missense_Mutation_p.D123N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	123					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AAAGAAAGATCTAAATACCTG	0.373													6	89					0	0	0	0	T	38776845	C	T	38776845	3	4	87	1	0	0	0	0	1	0	0	0	16044	913	32	2	2072	2	TLR10	4	38776845	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	760629	38776845	152377431	112	16650											
H2AFZ	3015	broad.mit.edu	37	chr4	100869668	100869668	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcagagatttgtggatgTgtggaatgacacctaggaga	13	10	13	5	0	1	3	1	1	0	2	1	7	1	5	1	3	0	0	1	3	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:100869668T>C	ENST00000296417.5	-	5	555	c.338A>G	c.(337-339)cAc>cGc	p.H113R	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	113					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		TTTGTGGATGTGTGGAATGAC	0.368													9	90					0	0	0	0	C	100869668	T	C	100869668	3	2	87	1	0	0	0	0	1	0	0	0	6981	1696	59	5	52	5	H2AFZ	4	100869668	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	62092823	100869668	90284608	113	16651											
CENPE	1062	broad.mit.edu	37	chr4	104057410	104057410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagaggtttgctttaactCtcattgaaagctctttttgg	8	17	10	6	0	2	2	1	2	2	1	3	3	2	2	0	2	3	3	0	2	2	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:104057410C>T	ENST00000265148.3	-	40	6499	c.6410G>A	c.(6409-6411)aGa>aAa	p.R2137K	CENPE_ENST00000380026.3_Missense_Mutation_p.R2016K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2137	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGCTTTAACTCTCATTGAAAG	0.363													9	97					0	0	0	0	T	104057410	C	T	104057410	3	4	87	1	0	0	0	0	1	0	0	0	3259	913	32	2	1735	2	CENPE	4	104057410	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	3187742	104057410	87096866	114	16652											
PDE5A	8654	broad.mit.edu	37	chr4	120442176	120442176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgataggcaacattcttccGataattcttcttaacactta	13	15	4	9	1	3	1	0	1	3	0	4	2	4	1	1	1	2	1	1	1	5	8			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:120442176G>A	ENST00000354960.3	-	13	2138	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W	PDE5A_ENST00000394439.1_Missense_Mutation_p.R555W|PDE5A_ENST00000512739.1_5'UTR|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.R565W	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	607	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ACATTCTTCCGATAATTCTTC	0.348													10	133					0	0	0	0	A	120442176	G	A	120442176	3	1	87	1	0	0	0	0	1	0	0	0	11715	1057	37	1	844	1	PDE5A	4	120442176	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	16384766	120442176	70712100	115	16653											
FAT4	79633	broad.mit.edu	37	chr4	126336687	126336687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcacaaatggacaggttcGctatggcattgttaatggta	12	11	12	6	1	0	0	0	0	0	0	1	1	0	1	0	5	0	6	0	5	4	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:126336687G>A	ENST00000394329.3	+	5	6582	c.6569G>A	c.(6568-6570)cGc>cAc	p.R2190H	FAT4_ENST00000335110.5_Missense_Mutation_p.R488H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2190	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGACAGGTTCGCTATGGCATT	0.413													16	148					0	0	0	0	A	126336687	G	A	126336687	3	1	87	1	0	0	0	0	1	0	0	0	5737	1087	38	1	6587	1	FAT4	4	126336687	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	5894511	126336687	64817589	116	16654											
LARP1B	55132	broad.mit.edu	37	chr4	129043274	129043274	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacttgctaaagttatcaaTgatggcttatactattatga	14	15	7	5	0	1	2	1	2	0	0	1	3	1	2	0	1	3	3	0	1	9	7			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:129043274T>C	ENST00000326639.6	+	11	1666	c.1455T>C	c.(1453-1455)aaT>aaC	p.N485N	LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Silent_p.N438N|LARP1B_ENST00000441387.1_Silent_p.N485N|LARP1B_ENST00000512292.1_Silent_p.N485N|LARP1B_ENST00000427266.1_Silent_p.N485N	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	485							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAGTTATCAATGATGGCTTAT	0.403													18	117					0	0	0	0	C	129043274	T	C	129043274	2	2	87	1	0	0	0	0	0	0	0	1	8682	1461	51	5		5	LARP1B	4	129043274	Silent	SNP	T	TCGA-CN-5369-01A-01D-1434-08	2706587	129043274	62111002	117	16655											
MAML3	55534	broad.mit.edu	37	chr4	140641384	140641384	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggttctgggagggtcctattCccatcatgcctgcgttctgt	4	14	12	11	1	3	0	1	0	2	0	5	1	5	1	3	3	2	2	3	3	1	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:140641384C>G	ENST00000509479.2	-	5	3366	c.2510G>C	c.(2509-2511)gGa>gCa	p.G837A	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	833	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGGTCCTATTCCCATCATGCC	0.607													9	146					0	0	0	0	G	140641384	C	G	140641384	3	3	87	1	0	0	0	0	1	0	0	0	9276	855	30	2	910	2	MAML3	4	140641384	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	11598110	140641384	50512892	118	16656											
KIAA0922	23240	broad.mit.edu	37	chr4	154517420	154517420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatttgcagggtacgcattCtgaggaatccaggtttggca	10	12	12	7	1	1	1	0	1	1	0	2	2	2	2	1	4	2	5	1	4	3	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:154517420C>T	ENST00000409959.3	+	20	2055	c.2006C>T	c.(2005-2007)tCt>tTt	p.S669F	KIAA0922_ENST00000440693.1_Missense_Mutation_p.S585F|KIAA0922_ENST00000409663.3_Missense_Mutation_p.S668F	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	668						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GGTACGCATTCTGAGGAATCC	0.418													11	157					0	0	0	0	T	154517420	C	T	154517420	3	4	87	1	0	0	0	0	1	0	0	0	8252	913	32	2	2084	2	KIAA0922	4	154517420	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	13876036	154517420	36636856	119	16657											
DCHS2	54798	broad.mit.edu	37	chr4	155157144	155157144	+	Frame_Shift_Del	DEL	A	A	-																															tattcttttctgggagggtgAaaaaatactgatcttgagtg																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:155157144delA	ENST00000357232.3	-	25	7294	c.7295delT	c.(7294-7296)tcfs	p.F2432fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2432	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGAGGGTGAAAAAATACTG	0.438													7	92	---	---	---	---					-	155157144	A	-	155157144	7	5	87	1	0	1	0	1	0	0	0	0	4320	246	9	0	1459	0	DCHS2	4	155157144	Frame_Shift_Del	DEL	A	TCGA-CN-5369-01A-01D-1434-08	639724	155157144	35997132	120	16658											
TKTL2	84076	broad.mit.edu	37	chr4	164394865	164394865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcacggtcttcacgtcggGcttggcgtcgttggccatca	4	11	13	13	5	3	0	2	0	1	0	5	0	3	0	1	4	1	3	1	4	0	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:164394865G>A	ENST00000280605.3	-	1	182	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	8						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTCACGTCGGGCTTGGCGTCG	0.637													3	29					0	0	0	0	A	164394865	G	A	164394865	3	1	87	1	0	0	0	0	1	0	0	0	16030	1203	42	4	1862	4	TKTL2	4	164394865	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	9237721	164394865	26759411	121	16659											
VEGFC	7424	broad.mit.edu	37	chr4	177650751	177650751	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctcttctgtccttgagttGaggttggcctgttctctgtt	2	19	11	9	0	3	2	0	2	3	0	6	2	4	2	2	2	0	4	2	2	0	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:177650751G>C	ENST00000280193.2	-	2	712	c.297C>G	c.(295-297)ctC>ctG	p.L99L		NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	99					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCCTTGAGTTGAGGTTGGCCT	0.373													6	67					0	0	0	0	C	177650751	G	C	177650751	2	2	87	1	0	0	0	0	0	0	0	1	17248	1277	45	2		2	VEGFC	4	177650751	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	13255886	177650751	13503525	122	16660											
STOX2	56977	broad.mit.edu	37	chr4	184930441	184930441	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatttcataactccttccctCataagaactaacagtaaatg	15	13	3	10	0	2	1	2	0	0	1	4	1	4	1	2	0	3	1	2	0	7	7			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:184930441C>G	ENST00000308497.4	+	3	1885	c.450C>G	c.(448-450)ctC>ctG	p.L150L	STOX2_ENST00000438269.1_Silent_p.L150L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	150					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTCCTTCCCTCATAAGAACTA	0.532													8	50					0	0	0	0	G	184930441	C	G	184930441	2	3	87	1	0	0	0	0	0	0	0	1	15410	813	29	2		2	STOX2	4	184930441	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	7279690	184930441	6223835	123	16661											
PDLIM3	27295	broad.mit.edu	37	chr4	186425655	186425655	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactcccacatttgtcacaGagcggcatcctctgtgcccc	7	9	7	18	1	2	1	1	0	1	1	4	1	4	1	5	1	2	1	5	1	0	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:186425655G>A	ENST00000284770.5	-	7	952	c.879C>T	c.(877-879)ctC>ctT	p.L293L	PDLIM3_ENST00000284771.6_Silent_p.L245L|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	293	LIM zinc-binding.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		ATTTGTCACAGAGCGGCATCC	0.502													5	33					0	0	0	0	A	186425655	G	A	186425655	2	1	87	1	0	0	0	0	0	0	0	1	11752	929	33	2		2	PDLIM3	4	186425655	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1495214	186425655	4728621	124	16662											
FAT1	2195	broad.mit.edu	37	chr4	187530965	187530965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatacacaccgtgatgacaGactgctcaagaacggcatct	15	7	8	11	2	2	4	1	2	1	2	2	4	2	4	1	1	3	2	1	1	4	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:187530965G>A	ENST00000441802.2	-	15	10267	c.10058C>T	c.(10057-10059)tCt>tTt	p.S3353F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3353	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTGATGACAGACTGCTCAAG	0.393										HNSCC(5;0.00058)			7	24					0	0	0	0	A	187530965	G	A	187530965	3	1	87	1	0	0	0	0	1	0	0	0	5734	942	33	2	3760	2	FAT1	4	187530965	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1105310	187530965	3623311	125	16663											
MARCH6	10299	broad.mit.edu	37	chr5	10415712	10415712	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaaccataagggctgtgacGgtgatggtggcatggatgcc	9	9	15	8	1	0	2	0	2	0	0	0	3	0	3	2	5	2	2	2	5	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:10415712G>A	ENST00000274140.5	+	21	2211	c.2079G>A	c.(2077-2079)acG>acA	p.T693T	MARCH6_ENST00000449913.2_Silent_p.T645T|MARCH6_ENST00000510792.1_Silent_p.T391T|MARCH6_ENST00000503788.1_Silent_p.T588T	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	693					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GGGCTGTGACGGTGATGGTGG	0.483													5	70					0	0	0	0	A	10415712	G	A	10415712	2	1	87	1	0	0	0	0	0	0	0	1	9374	1103	39	1		1	MARCH6	5	10415712	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08		10415712	170499548	126	16664											
MYO10	4651	broad.mit.edu	37	chr5	16694554	16694554	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtacatcagcttggactgGcggaggacaaaccagcgctt	12	7	12	10	2	1	0	1	0	0	0	1	3	1	3	1	4	4	3	1	4	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:16694554G>A	ENST00000513610.1	-	27	4180	c.3726C>T	c.(3724-3726)cgC>cgT	p.R1242R	MYO10_ENST00000505695.1_Silent_p.R581R|MYO10_ENST00000515803.1_Silent_p.R581R|MYO10_ENST00000274203.9_Silent_p.R599R|MYO10_ENST00000427430.2_Silent_p.R599R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1242	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCTTGGACTGGCGGAGGACAA	0.572													14	149					0	0	0	0	A	16694554	G	A	16694554	2	1	87	1	0	0	0	0	0	0	0	1	10132	1190	42	4		4	MYO10	5	16694554	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	6278842	16694554	164220706	127	16665											
CDH9	1007	broad.mit.edu	37	chr5	26906877	26906877	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtccttgcaatatgctataGaccactttggcactatttcc	9	15	6	11	0	0	1	0	0	0	1	2	1	2	1	3	1	2	3	3	1	5	7			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:26906877G>C	ENST00000231021.4	-	4	766	c.594C>G	c.(592-594)gtC>gtG	p.V198V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	198	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATATGCTATAGACCACTTTGG	0.398													4	52					0	0	0	0	C	26906877	G	C	26906877	2	2	87	1	0	0	0	0	0	0	0	1	3146	929	33	2		2	CDH9	5	26906877	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	10212323	26906877	154008383	128	16666											
NIPBL	25836	broad.mit.edu	37	chr5	37016183	37016183	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagattacagaccactgtttGaaaattttgttcaagacctt	14	14	6	7	0	1	4	1	1	0	3	1	4	1	4	2	0	1	2	2	0	5	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:37016183G>C	ENST00000282516.8	+	23	5186	c.4687G>C	c.(4687-4689)Gaa>Caa	p.E1563Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.E1563Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1563					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCACTGTTTGAAAATTTTGT	0.388													6	71					0	0	0	0	C	37016183	G	C	37016183	3	2	87	1	0	0	0	0	1	0	0	0	10498	1291	45	2	4773	2	NIPBL	5	37016183	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	10109306	37016183	143899077	129	16667											
EGFLAM	133584	broad.mit.edu	37	chr5	38427202	38427202	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccagcattacctttccttCatggaatttgagatcacatt	10	14	5	12	0	2	1	2	1	0	1	3	3	3	2	4	1	2	1	4	1	2	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:38427202C>T	ENST00000322350.5	+	14	2248	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	EGFLAM_ENST00000354891.3_Silent_p.F634F|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000336740.6_Silent_p.F400F|EGFLAM-AS1_ENST00000508986.1_RNA	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	634	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACCTTTCCTTCATGGAATTTG	0.493													18	140					0	0	0	0	T	38427202	C	T	38427202	2	4	87	1	0	0	0	0	0	0	0	1	5002	825	29	2		2	EGFLAM	5	38427202	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1411019	38427202	142488058	130	16668											
HCN1	348980	broad.mit.edu	37	chr5	45262736	45262736	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgcgggaggtcggggtcgTagtagacgatgtggaattca	9	9	17	6	4	1	1	1	0	0	1	3	4	1	3	0	5	1	2	0	5	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:45262736T>C	ENST00000303230.4	-	8	2017	c.1960A>G	c.(1960-1962)Acg>Gcg	p.T654A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	654						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTCGGGGTCGTAGTAGACGAT	0.537													16	80					0	0	0	0	C	45262736	T	C	45262736	3	2	87	1	0	0	0	0	1	0	0	0	7046	1638	57	5	716	5	HCN1	5	45262736	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	6835534	45262736	135652524	131	16669											
ITGA1	3672	broad.mit.edu	37	chr5	52211386	52211386	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgacggtctgacagaTgtgactattgggggccttgg	8	11	16	6	1	1	4	0	3	1	1	1	4	1	4	1	5	0	0	1	5	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:52211386T>A	ENST00000282588.6	+	15	2408	c.1950T>A	c.(1948-1950)gaT>gaA	p.D650E		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	650					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTCTGACAGATGTGACTATTG	0.468													9	124					0	0	0	0	A	52211386	T	A	52211386	3	1	87	1	0	0	0	0	1	0	0	0	7925	1461	51	5	2008	5	ITGA1	5	52211386	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	6948650	52211386	128703874	132	16670											
VCAN	1462	broad.mit.edu	37	chr5	82843897	82843897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttatgttggtgcactttgtGagcaaggtaagagctattgc	9	14	13	5	0	0	2	0	1	0	1	0	2	0	2	0	2	4	6	0	2	4	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:82843897G>A	ENST00000265077.3	+	10	10052	c.9487G>A	c.(9487-9489)Gag>Aag	p.E3163K	VCAN_ENST00000343200.5_Missense_Mutation_p.E2176K|VCAN_ENST00000342785.4_Missense_Mutation_p.E1409K|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.E1361K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.E422K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3163	EGF-like 2; calcium-binding (Potential).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGCACTTTGTGAGCAAGGTAA	0.388													15	53					0	0	0	0	A	82843897	G	A	82843897	3	1	87	1	0	0	0	0	1	0	0	0	17234	1291	45	2	9521	2	VCAN	5	82843897	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	30632511	82843897	98071363	133	16671											
SLCO6A1	133482	broad.mit.edu	37	chr5	101794148	101794149	+	Frame_Shift_Ins	INS	-	-	A																															agatctttaagtctgctgtcINSaaaaaaatgaagctgtttac																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:101794148_101794149insA	ENST00000506729.1	-	6	1239_1240	c.1068_1069insT	c.(1066-1071)ttacagfs	p.LQ356fs	SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Frame_Shift_Ins_p.LQ294fs|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Frame_Shift_Ins_p.LQ356fs			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	356						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGTCTGCTGTCAAAAAAATGAA	0.297													7	81	---	---	---	---					A	101794149	-	A	101794148	7	5	87	1	0	1	1	0	0	0	0	0	14820	826	29	0	1122	0	SLCO6A1	5	101794148	Frame_Shift_Ins	INS	-	TCGA-CN-5369-01A-01D-1434-08	18950251	101794148	79121112	134	16672											
FBN2	2201	broad.mit.edu	37	chr5	127670419	127670419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgaaacctacctgtacatCctgtggtccccttcttcact	7	14	5	15	0	2	1	1	1	1	0	4	1	4	1	5	1	3	1	5	1	3	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:127670419C>T	ENST00000508053.1	-	37	5065	c.4091G>A	c.(4090-4092)gGa>gAa	p.G1364E	FBN2_ENST00000262464.4_Missense_Mutation_p.G1364E|FBN2_ENST00000508989.1_Missense_Mutation_p.G1331E|FBN2_ENST00000507835.1_Missense_Mutation_p.G214E			P35556	FBN2_HUMAN	fibrillin 2	1364	EGF-like 21; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACCTGTACATCCTGTGGTCCC	0.428													10	88					0	0	0	0	T	127670419	C	T	127670419	3	4	87	1	0	0	0	0	1	0	0	0	5748	855	30	2	4787	2	FBN2	5	127670419	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	25876271	127670419	53244841	135	16673											
RAPGEF6	51735	broad.mit.edu	37	chr5	130782325	130782325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaagcagagagctgcggCgtgccctttttttgtgagca	8	12	12	9	2	0	2	0	1	0	1	0	3	0	2	1	1	5	3	1	1	1	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:130782325C>T	ENST00000509018.1	-	22	3477	c.3272G>A	c.(3271-3273)cGc>cAc	p.R1091H	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R1099H|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R1099H|FNIP1_ENST00000514667.1_Missense_Mutation_p.R1141H|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R1104H|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.R1091H|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.R814H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1091					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGAGCTGCGGCGTGCCCTTTT	0.453													9	125					0	0	0	0	T	130782325	C	T	130782325	3	4	87	1	0	0	0	0	1	0	0	0	13130	768	27	1	1996	1	RAPGEF6	5	130782325	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	3111906	130782325	50132935	136	16674											
PSD2	84249	broad.mit.edu	37	chr5	139193008	139193008	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcctcgactccctagaCgggctgagcctcacggatga	9	6	12	14	3	1	3	1	2	0	1	3	5	2	4	3	2	3	2	3	2	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:139193008C>T	ENST00000274710.3	+	3	691	c.486C>T	c.(484-486)gaC>gaT	p.D162D		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	162					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCCTAGACGGGCTGAGCC	0.657													5	69					0	0	0	0	T	139193008	C	T	139193008	2	4	87	1	0	0	0	0	0	0	0	1	12726	535	19	1		1	PSD2	5	139193008	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	8410683	139193008	41722252	137	16675											
PCDHA9	9752	broad.mit.edu	37	chr5	140230192	140230192	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtacctgatcatcgccatCtgcgcggtgtctagcctgtt	5	13	11	12	3	3	1	1	1	2	0	4	1	3	1	3	1	3	2	3	1	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140230192C>T	ENST00000378122.3	+	1	2836	c.2112C>T	c.(2110-2112)atC>atT	p.I704I	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.I704I|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCGCCATCTGCGCGGTGT	0.662													9	87					0	0	0	0	T	140230192	C	T	140230192	2	4	87	1	0	0	0	0	0	0	0	1	11602	903	32	2		2	PCDHA9	5	140230192	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1037184	140230192	40685068	138	16676											
PCDHA10	56139	broad.mit.edu	37	chr5	140236323	140236323	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttctctgctgatcctGgtgttagatgccaatgataa	8	16	9	8	0	2	3	0	2	2	1	4	3	3	3	2	1	2	3	2	1	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140236323G>C	ENST00000307360.5	+	1	690	c.690G>C	c.(688-690)ctG>ctC	p.L230L	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.L230L|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGATCCTGGTGTTAGATG	0.418													8	132					0	0	0	0	C	140236323	G	C	140236323	2	2	87	1	0	0	0	0	0	0	0	1	11591	1335	47	4		4	PCDHA10	5	140236323	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	6131	140236323	40678937	139	16677											
PCDHA12	56137	broad.mit.edu	37	chr5	140256838	140256838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccacgtggtggcgaaagTgcgcgcggtggacgctgact	6	6	19	10	6	0	1	0	1	0	0	0	3	0	2	1	5	1	1	1	5	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140256838T>C	ENST00000398631.2	+	1	1781	c.1781T>C	c.(1780-1782)gTg>gCg	p.V594A	PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCGAAAGTGCGCGCGGTG	0.692													10	93					0	0	0	0	C	140256838	T	C	140256838	3	2	87	1	0	0	0	0	1	0	0	0	11593	1696	59	5	1783	5	PCDHA12	5	140256838	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	20515	140256838	40658422	140	16678											
PCDHB14	56122	broad.mit.edu	37	chr5	140604569	140604569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgccccaggaccggcacCtgcccctcgcctccttggtc	3	7	10	21	3	0	0	0	0	0	0	3	1	1	1	9	3	2	1	9	3	0	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140604569C>A	ENST00000239449.4	+	1	1492	c.1492C>A	c.(1492-1494)Ctg>Atg	p.L498M	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L345M	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		498	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACCGGCACCTGCCCCTCGC	0.652													12	188					1.5842e-08	1.73806e-08	1	0	A	140604569	C	A	140604569	3	1	87	1	0	0	0	0	1	0	0	0	11610	680	24	4	1494	4	PCDHB14	5	140604569	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	347731	140604569	40310691	141	16679											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731194	140731194	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcctcctatgtggtccAcgtgtctgagaacaacccac	9	9	9	14	1	2	1	1	1	1	1	4	2	4	1	4	2	2	0	4	2	3	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140731194A>G	ENST00000523390.1	+	1	1367	c.1367A>G	c.(1366-1368)cAc>cGc	p.H456R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGTGGTCCACGTGTCTGAG	0.562													5	63					0	0	0	0	G	140731194	A	G	140731194	3	3	87	1	0	0	0	0	1	0	0	0	11633	159	6	5	1369	5	PCDHGB1	5	140731194	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	126625	140731194	40184066	142	16680											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744135	140744135	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttttgccctgaacccgCgaagcggcagcttggtcacc	7	9	11	14	3	1	1	1	1	0	0	1	2	1	1	3	2	5	3	3	2	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140744135C>T	ENST00000518069.1	+	1	238	c.238C>T	c.(238-240)Cga>Tga	p.R80*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGAACCCGCGAAGCGGCAG	0.607													8	91					0	0	0	0	T	140744135	C	T	140744135	4	4	87	1	0	0	0	0	0	1	0	0	11628	760	27	1	240	1	PCDHGA5	5	140744135	Nonsense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	12941	140744135	40171125	143	16681											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751359	140751359	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtagctgagaacaatccGcctggagcctccattgcgca	10	8	10	13	2	0	1	0	1	0	1	2	3	2	2	4	1	4	3	4	1	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140751359G>A	ENST00000576222.1	+	1	1529	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAATCCGCCTGGAGCCT	0.577													14	122					0	0	0	0	A	140751359	G	A	140751359	2	1	87	1	0	0	0	0	0	0	0	1	11635	1074	38	1		1	PCDHGB3	5	140751359	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	7224	140751359	40163901	144	16682											
DIAPH1	1729	broad.mit.edu	37	chr5	140962827	140962827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taagaatgtccaataaggagGccaagccttcagcaccaaat	16	7	8	10	0	1	1	1	0	0	1	2	2	2	2	4	2	2	1	4	2	6	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140962827G>A	ENST00000253811.6	-	6	706	c.566C>T	c.(565-567)gCc>gTc	p.A189V	DIAPH1_ENST00000518047.1_Missense_Mutation_p.A180V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.A135V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.A189V|DIAPH1_ENST00000398557.4_Missense_Mutation_p.A189V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180V			O60610	DIAP1_HUMAN	diaphanous-related formin 1	189	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATAAGGAGGCCAAGCCTTC	0.413													9	184					0	0	0	0	A	140962827	G	A	140962827	3	1	87	1	0	0	0	0	1	0	0	0	4555	1203	42	4	3344	4	DIAPH1	5	140962827	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	211468	140962827	39952433	145	16683											
PCDH1	5097	broad.mit.edu	37	chr5	141233932	141233932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggcatccagcatgtgtcaGagtggccaaactcactgcac	11	7	10	13	0	2	1	2	0	0	1	3	1	3	1	2	2	3	3	2	2	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:141233932G>C	ENST00000287008.3	-	5	3536	c.3389C>G	c.(3388-3390)tCt>tGt	p.S1130C	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GCATGTGTCAGAGTGGCCAAA	0.607													3	25					0	0	0	0	C	141233932	G	C	141233932	3	2	87	1	0	0	0	0	1	0	0	0	11577	942	33	2	328	2	PCDH1	5	141233932	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	271105	141233932	39681328	146	16684											
CPEB4	80315	broad.mit.edu	37	chr5	173380196	173380196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggagctgggagagttgCgttctctaatcaacagagtt	13	10	12	6	1	2	2	1	0	1	2	3	4	2	3	0	2	3	4	0	2	4	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:173380196C>T	ENST00000265085.5	+	9	3337	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	CPEB4_ENST00000522336.1_Missense_Mutation_p.A238V|CPEB4_ENST00000334035.5_Missense_Mutation_p.A611V|CPEB4_ENST00000517880.1_Missense_Mutation_p.A221V|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.A603V|CPEB4_ENST00000519835.1_Missense_Mutation_p.A603V	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	628	RRM 2.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGGAGAGTTGCGTTCTCTAAT	0.463													8	131					0	0	0	0	T	173380196	C	T	173380196	3	4	87	1	0	0	0	0	1	0	0	0	3833	768	27	1	1917	1	CPEB4	5	173380196	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	32146264	173380196	7535064	147	16685											
KIAA1191	57179	broad.mit.edu	37	chr5	175782579	175782579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggtcagataccttggCgaggtgctgatacttgcgct	8	10	14	9	2	1	2	1	1	0	1	1	3	1	2	1	3	5	3	1	3	2	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:175782579C>T	ENST00000298569.4	-	4	735	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	RP11-843P14.1_ENST00000512934.1_RNA|KIAA1191_ENST00000510164.1_Missense_Mutation_p.A68T|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000393728.2_Intron|KIAA1191_ENST00000393725.2_Missense_Mutation_p.A49T	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	68							protein binding	p.A68T(1)		endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GATACCTTGGCGAGGTGCTGA	0.592													6	108					0	0	0	0	T	175782579	C	T	175782579	3	4	87	1	0	0	0	0	1	0	0	0	8263	768	27	1	739	1	KIAA1191	5	175782579	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2402383	175782579	5132681	148	16686											
GNB2L1	10399	broad.mit.edu	37	chr5	180666085	180666085	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttgcctccagaagcacaGagggatccatctggagagac	12	6	11	12	0	1	3	0	0	1	3	3	6	3	5	4	2	2	1	4	2	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:180666085G>A	ENST00000512805.1	-	5	1026	c.618C>T	c.(616-618)ctC>ctT	p.L206L	GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511566.1_Silent_p.L206L|GNB2L1_ENST00000511900.1_Silent_p.L158L|GNB2L1_ENST00000376817.4_Silent_p.L162L	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	206					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CAGAAGCACAGAGGGATCCAT	0.517													7	141					0	0	0	0	A	180666085	G	A	180666085	2	1	87	1	0	0	0	0	0	0	0	1	6569	929	33	2		2	GNB2L1	5	180666085	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	4883506	180666085	249175	149	16687											
SLC17A4	10050	broad.mit.edu	37	chr6	25762243	25762243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggggacatttccagtgatgGcaatttaaacgtggctcaag	11	10	13	7	1	1	1	1	1	0	0	2	2	2	2	1	4	1	2	1	4	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:25762243G>A	ENST00000377905.4	+	2	172	c.53G>A	c.(52-54)gGc>gAc	p.G18D	SLC17A4_ENST00000397076.2_5'UTR|SLC17A4_ENST00000439485.2_Missense_Mutation_p.G18D	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	18					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.G18D(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCAGTGATGGCAATTTAAAC	0.418													3	28					0	0	0	0	A	25762243	G	A	25762243	3	1	87	1	0	0	0	0	1	0	0	0	14507	1203	42	4	55	4	SLC17A4	6	25762243	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08		25762243	145352824	150	16688											
ZNF311	282890	broad.mit.edu	37	chr6	28962832	28962832	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagaaacagtcactggagaGagggatttcctactcccatc	12	9	10	10	0	1	2	1	1	0	2	4	6	3	4	2	2	2	0	2	2	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:28962832G>A	ENST00000377179.3	-	7	2459	c.1947C>T	c.(1945-1947)ctC>ctT	p.L649L	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	649					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TCACTGGAGAGAGGGATTTCC	0.413													4	44					0	0	0	0	A	28962832	G	A	28962832	2	1	87	1	0	0	0	0	0	0	0	1	17929	929	33	2		2	ZNF311	6	28962832	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3200589	28962832	142152235	151	16689											
OR2J2	26707	broad.mit.edu	37	chr6	29141556	29141556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggaaacctgttcatcatcatCctgtcatacgtggactccca	10	11	7	13	1	4	0	4	0	0	0	6	2	6	2	3	2	2	1	3	2	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:29141556C>G	ENST00000377167.2	+	1	246	c.144C>G	c.(142-144)atC>atG	p.I48M		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCATCATCATCCTGTCATACG	0.443													9	164					0	0	0	0	G	29141556	C	G	29141556	3	3	87	1	0	0	0	0	1	0	0	0	11074	845	30	2	146	2	OR2J2	6	29141556	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	178724	29141556	141973511	152	16690											
TRIM10	10107	broad.mit.edu	37	chr6	30122127	30122127	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgatgccagtgtgggcCagaacacaggtggcccggtc	7	7	15	12	1	0	2	0	1	0	1	1	2	0	2	4	4	2	0	4	4	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:30122127C>A	ENST00000449742.2	-	7	1140	c.1065G>T	c.(1063-1065)ctG>ctT	p.L355L	TRIM10_ENST00000376704.3_Silent_p.L355L	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	355	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CAGTGTGGGCCAGAACACAGG	0.612													4	37					0.00116845	0.00120397	1	0	A	30122127	C	A	30122127	2	1	87	1	0	0	0	0	0	0	0	1	16581	581	21	4		4	TRIM10	6	30122127	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	980571	30122127	140992940	153	16691											
HLA-C	3107	broad.mit.edu	37	chr6	31238116	31238116	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctcctgctggcctggtctCcacaagctcggtgtcctggg	4	11	12	14	1	2	0	0	0	2	0	6	0	3	0	4	4	2	2	4	4	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:31238116C>A	ENST00000383329.3	-	4	780	c.766G>T	c.(766-768)Gag>Tag	p.E256*	HLA-C_ENST00000376228.5_Nonsense_Mutation_p.E256*			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	256	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GGCCTGGTCTCCACAAGCTCG	0.627													7	89					0.00198382	0.00203383	1	0	A	31238116	C	A	31238116	4	1	87	1	0	0	0	0	0	1	0	0	7247	864	30	2	354	2	HLA-C	6	31238116	Nonsense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1115989	31238116	139876951	154	16692											
ZBTB22	9278	broad.mit.edu	37	chr6	33283004	33283005	+	Frame_Shift_Del	DEL	CA	CA	-																															gcccaggcggtgccggcgctCacagtgtcctcggtggcgca																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:33283004_33283005delCA	ENST00000431845.2	-	2	1840_1841	c.1689_1690delTG	c.(1687-1692)tgagfs	p.CE563fs	ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.CE563fs	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGCCGGCGCTCACAGTGTCCTC	0.663													8	75	---	---	---	---					-	33283005	CA	-	33283004	7	5	87	1	0	1	0	1	0	0	0	0	17625	835	29	0	218	0	ZBTB22	6	33283004	Frame_Shift_Del	DEL	CA	TCGA-CN-5369-01A-01D-1434-08	2044888	33283004	137832063	155	16693											
ANKS1A	23294	broad.mit.edu	37	chr6	34951143	34951143	+	Frame_Shift_Del	DEL	C	C	-																															tacaaaagaagtagataaaaCccccccaccccagccacctc																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:34951143delC	ENST00000360359.3	+	7	1091	c.953delC	c.(952-954)acfs	p.T318fs	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	318						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTAGATAAAACCCCCCCACCC	0.418													10	98	---	---	---	---					-	34951143	C	-	34951143	7	5	87	1	0	1	0	1	0	0	0	0	687	507	18	0	979	0	ANKS1A	6	34951143	Frame_Shift_Del	DEL	C	TCGA-CN-5369-01A-01D-1434-08	1668139	34951143	136163924	156	16694											
DNAH8	1769	broad.mit.edu	37	chr6	38919111	38919111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggtcttggtgcccagaccGtactgtttttcaagcaagaa	10	12	10	9	1	2	2	1	0	1	2	2	2	2	2	2	2	3	3	2	2	5	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:38919111G>A	ENST00000359357.3	+	80	11869	c.11615G>A	c.(11614-11616)cGt>cAt	p.R3872H	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3836H|DNAH8_ENST00000449981.2_Missense_Mutation_p.R4089H					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCCCAGACCGTACTGTTTTT	0.338													16	144					0	0	0	0	A	38919111	G	A	38919111	3	1	87	1	0	0	0	0	1	0	0	0	4643	1145	40	1	11925	1	DNAH8	6	38919111	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3967968	38919111	132195956	157	16695											
EFHC1	114327	broad.mit.edu	37	chr6	52318995	52318995	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggatgatacggtggaaattCgagaggtccacgaacggaat	13	8	14	6	4	0	2	0	1	0	1	2	7	1	5	1	5	2	0	1	5	4	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:52318995C>T	ENST00000371068.5	+	5	929	c.826C>T	c.(826-828)Cga>Tga	p.R276*	EFHC1_ENST00000433625.2_Nonsense_Mutation_p.R185*|EFHC1_ENST00000538167.1_Nonsense_Mutation_p.R257*	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	276	DM10 2.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	p.R276*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GGTGGAAATTCGAGAGGTCCA	0.448													12	99					0	0	0	0	T	52318995	C	T	52318995	4	4	87	1	0	0	0	0	0	1	0	0	4982	876	31	1	854	1	EFHC1	6	52318995	Nonsense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	13399884	52318995	118796072	158	16696											
GCM1	8521	broad.mit.edu	37	chr6	52998973	52998973	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaccaccacacccaggcaGgacttcttgaggatgcggga	11	5	11	14	1	1	1	0	1	1	0	1	4	1	4	3	4	1	1	3	4	0	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:52998973G>T	ENST00000259803.7	-	3	436	c.225C>A	c.(223-225)tcC>tcA	p.S75S		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	75						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CACCCAGGCAGGACTTCTTGA	0.607													7	87					1.6384e-10	1.80401e-10	1	0	T	52998973	G	T	52998973	2	4	87	1	0	0	0	0	0	0	0	1	6346	987	35	4		4	GCM1	6	52998973	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	679978	52998973	118116094	159	16697											
CD109	135228	broad.mit.edu	37	chr6	74520797	74520797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatccaagtgaccgtgaCggggcctagctcaccaagtc	12	7	10	12	2	1	2	1	2	0	0	3	2	2	2	4	2	1	1	4	2	5	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:74520797C>T	ENST00000437994.2	+	28	4060	c.3629C>T	c.(3628-3630)aCg>aTg	p.T1210M	CD109_ENST00000422508.2_Missense_Mutation_p.T1133M|CD109_ENST00000287097.5_Missense_Mutation_p.T1210M	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1210						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGACCGTGACGGGGCCTAGC	0.458													8	81					0	0	0	0	T	74520797	C	T	74520797	3	4	87	1	0	0	0	0	1	0	0	0	2992	536	19	1	3739	1	CD109	6	74520797	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	21521824	74520797	96594270	160	16698											
HTR1B	3351	broad.mit.edu	37	chr6	78173080	78173080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacccaggtctcggagcccGcgggcggcggtggagcgcac	6	3	18	14	6	1	0	0	0	1	0	2	3	1	2	2	6	3	1	2	6	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:78173080G>A	ENST00000369947.2	-	1	410	c.41C>T	c.(40-42)gCg>gTg	p.A14V		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	14					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CTCGGAGCCCGCGGGCGGCGG	0.642													13	79					0	0	0	0	A	78173080	G	A	78173080	3	1	87	1	0	0	0	0	1	0	0	0	7490	1087	38	1	1135	1	HTR1B	6	78173080	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3652283	78173080	92941987	161	16699											
GJB7	375519	broad.mit.edu	37	chr6	87993980	87993980	+	Frame_Shift_Del	DEL	T	T	-																															cacacactgaggacttgaggTttttttaaatatttttggag																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:87993980delT	ENST00000525899.1	-	3	996	c.651delA	c.(649-651)aafs	p.K217fs	GJB7_ENST00000296882.3_Frame_Shift_Del_p.K217fs	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	217					cell communication	connexon complex|integral to membrane		p.K217fs*>7(1)		endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		GGACTTGAGGTTTTTTTAAAT	0.413													7	82	---	---	---	---					-	87993980	T	-	87993980	7	5	87	1	0	1	0	1	0	0	0	0	6464	1722	60	0	24	0	GJB7	6	87993980	Frame_Shift_Del	DEL	T	TCGA-CN-5369-01A-01D-1434-08	9820900	87993980	83121087	162	16700											
USP45	85015	broad.mit.edu	37	chr6	99894228	99894228	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcagaattcatgaggcTggcaaacattaaagaatccc	15	9	8	9	0	2	4	2	2	0	2	3	4	3	4	1	2	1	2	1	2	5	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:99894228T>C	ENST00000327681.6	-	14	1952	c.1420A>G	c.(1420-1422)Agc>Ggc	p.S474G	USP45_ENST00000500704.2_Missense_Mutation_p.S474G|USP45_ENST00000392738.2_Missense_Mutation_p.S154G|USP45_ENST00000369233.2_Missense_Mutation_p.S426G|USP45_ENST00000539675.1_Intron	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	474					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TTCATGAGGCTGGCAAACATT	0.398													12	71					0	0	0	0	C	99894228	T	C	99894228	3	2	87	1	0	0	0	0	1	0	0	0	17172	1580	55	5	1044	5	USP45	6	99894228	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	11900248	99894228	71220839	163	16701											
SEC63	11231	broad.mit.edu	37	chr6	108246120	108246120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagaacaatgcccatcctgCaagcagaactattttcctgt	13	11	6	11	0	0	2	0	0	0	2	2	2	2	2	3	0	5	2	3	0	6	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:108246120C>T	ENST00000369002.4	-	3	420	c.241G>A	c.(241-243)Gca>Aca	p.A81T		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	81					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GCCCATCCTGCAAGCAGAACT	0.348													8	66					0	0	0	0	T	108246120	C	T	108246120	3	4	87	1	0	0	0	0	1	0	0	0	14092	710	25	4	2117	4	SEC63	6	108246120	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	8351892	108246120	62868947	164	16702											
NR2E1	7101	broad.mit.edu	37	chr6	108492787	108492787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgaaggaataggacctatGtctgcaaatctggaaaccag	14	8	10	9	1	2	0	0	0	2	0	3	4	3	3	3	3	2	1	3	3	6	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:108492787G>T	ENST00000368986.4	+	2	859	c.151G>T	c.(151-153)Gtc>Ttc	p.V51F	NR2E1_ENST00000368983.3_Missense_Mutation_p.V88F	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	51					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TAGGACCTATGTCTGCAAATC	0.577													14	145					0.000219431	0.00023118	1	0	T	108492787	G	T	108492787	3	4	87	1	0	0	0	0	1	0	0	0	10696	1377	48	4	157	4	NR2E1	6	108492787	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	246667	108492787	62622280	165	16703											
MICAL1	64780	broad.mit.edu	37	chr6	109765452	109765452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcgctcctcctggaagCggatgagggcatctctctgg	5	9	14	13	2	2	1	0	1	2	0	5	3	4	3	3	4	2	2	3	4	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:109765452C>T	ENST00000368952.4	-	25	3493	c.3203G>A	c.(3202-3204)cGc>cAc	p.R1068H	MICAL1_ENST00000358577.3_Missense_Mutation_p.R963H|MICAL1_ENST00000358807.3_Missense_Mutation_p.R1049H			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1049					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTCCTGGAAGCGGATGAGGGC	0.592													4	43					0	0	0	0	T	109765452	C	T	109765452	3	4	87	1	0	0	0	0	1	0	0	0	9638	768	27	1	61	1	MICAL1	6	109765452	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1272665	109765452	61349615	166	16704											
L3MBTL3	84456	broad.mit.edu	37	chr6	130374062	130374062	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaagaagatcctaagtgtAgtcggaagaaaaaaccaaaa	21	5	10	5	1	0	3	0	0	0	3	2	5	1	5	2	2	1	1	2	2	10	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:130374062A>G	ENST00000529410.1	+	9	987	c.508A>G	c.(508-510)Agt>Ggt	p.S170G	L3MBTL3_ENST00000368139.2_Missense_Mutation_p.S145G|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.S170G|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.S170G|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.S145G|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.S145G			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	170					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCCTAAGTGTAGTCGGAAGAA	0.418													7	30					0	0	0	0	G	130374062	A	G	130374062	3	3	87	1	0	0	0	0	1	0	0	0	8646	420	15	5	526	5	L3MBTL3	6	130374062	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	20608610	130374062	40741005	167	16705											
HBS1L	10767	broad.mit.edu	37	chr6	135363201	135363201	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagattctttcagatcttcaTaatcatattcttccacaggc	12	15	4	10	0	6	2	3	0	3	2	7	2	7	2	1	1	0	0	1	1	3	7			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:135363201T>C	ENST00000367837.5	-	3	379	c.173A>G	c.(172-174)tAt>tGt	p.Y58C	HBS1L_ENST00000367822.5_Missense_Mutation_p.Y58C|HBS1L_ENST00000445176.2_5'UTR|HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000367820.2_Missense_Mutation_p.Y58C|HBS1L_ENST00000415177.2_Missense_Mutation_p.Y58C|HBS1L_ENST00000525067.1_Intron|HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000314674.3_Missense_Mutation_p.Y58C	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	58					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CAGATCTTCATAATCATATTC	0.358													6	40					0	0	0	0	C	135363201	T	C	135363201	3	2	87	1	0	0	0	0	1	0	0	0	7037	1406	49	5	3418	5	HBS1L	6	135363201	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	4989139	135363201	35751866	168	16706											
MAP3K5	4217	broad.mit.edu	37	chr6	136913701	136913701	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgtactcactgctgctgCtggtgtcctccaccagcaca	7	9	9	16	1	1	0	1	0	0	0	3	0	3	0	4	1	6	5	4	1	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:136913701C>G	ENST00000359015.4	-	22	3290	c.2930G>C	c.(2929-2931)aGc>aCc	p.S977T	MAP3K5_ENST00000355845.4_Missense_Mutation_p.S224T	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	977					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	p.S977I(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ACTGCTGCTGCTGGTGTCCTC	0.478													5	70					0	0	0	0	G	136913701	C	G	136913701	3	3	87	1	0	0	0	0	1	0	0	0	9322	797	28	4	1230	4	MAP3K5	6	136913701	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1550500	136913701	34201366	169	16707											
KIAA1244	57221	broad.mit.edu	37	chr6	138615205	138615205	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccagctgaagaaagcatcGcagtctcagcttttccattc	11	11	7	12	1	1	2	1	1	1	1	5	2	2	2	2	0	4	4	2	0	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:138615205G>A	ENST00000251691.4	+	20	3610	c.3444G>A	c.(3442-3444)tcG>tcA	p.S1148S		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1148					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.S1077S(1)		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)		AGAAAGCATCGCAGTCTCAGC	0.433													7	68					0	0	0	0	A	138615205	G	A	138615205	2	1	87	1	0	0	0	0	0	0	0	1	8268	1074	38	1		1	KIAA1244	6	138615205	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1701504	138615205	32499862	170	16708											
SASH1	23328	broad.mit.edu	37	chr6	148855055	148855055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgccccaccaggaggcgtcGgaaaggacgaccaccccagc	11	1	12	17	4	0	0	0	0	0	0	1	4	0	3	6	4	1	0	6	4	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:148855055G>A	ENST00000367467.3	+	15	2358	c.1883G>A	c.(1882-1884)cGg>cAg	p.R628Q		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	628							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGGAGGCGTCGGAAAGGACGA	0.537													10	108					0	0	0	0	A	148855055	G	A	148855055	3	1	87	1	0	0	0	0	1	0	0	0	13934	1116	39	1	1941	1	SASH1	6	148855055	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	10239850	148855055	22260012	171	16709											
SYNE1	23345	broad.mit.edu	37	chr6	152765550	152765550	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggcatttttacctggTgatgaagaagtaactgctgt	13	12	11	5	0	0	4	0	2	0	2	0	4	0	4	1	2	3	3	1	2	5	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:152765550T>C	ENST00000367255.5	-	30	4434	c.3833A>G	c.(3832-3834)cAc>cGc	p.H1278R	SYNE1_ENST00000341594.5_Missense_Mutation_p.H1344R|SYNE1_ENST00000367248.3_Missense_Mutation_p.H1268R|SYNE1_ENST00000448038.1_Missense_Mutation_p.H1285R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H1285R|SYNE1_ENST00000367253.4_Missense_Mutation_p.H1278R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H1278R|SYNE1_ENST00000413186.2_Missense_Mutation_p.H1278R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1278					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTACCTGGTGATGAAGAAG	0.383										HNSCC(10;0.0054)			9	120					0	0	0	0	C	152765550	T	C	152765550	3	2	87	1	0	0	0	0	1	0	0	0	15536	1696	59	5	23101	5	SYNE1	6	152765550	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	3910495	152765550	18349517	172	16710											
SYNE1	23345	broad.mit.edu	37	chr6	152776698	152776698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtttccacatgcttctTccaatctccagttttcttta	6	19	5	11	0	3	0	0	0	3	0	6	0	5	0	3	1	1	4	3	1	2	8			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:152776698T>C	ENST00000367255.5	-	24	3356	c.2755A>G	c.(2755-2757)Aag>Gag	p.K919E	SYNE1_ENST00000341594.5_Missense_Mutation_p.K985E|SYNE1_ENST00000367248.3_Missense_Mutation_p.K909E|SYNE1_ENST00000495090.2_Missense_Mutation_p.K486E|SYNE1_ENST00000448038.1_Missense_Mutation_p.K926E|SYNE1_ENST00000423061.1_Missense_Mutation_p.K926E|SYNE1_ENST00000367253.4_Missense_Mutation_p.K919E|SYNE1_ENST00000265368.4_Missense_Mutation_p.K919E|SYNE1_ENST00000413186.2_Missense_Mutation_p.K919E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	919					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACATGCTTCTTCCAATCTCCA	0.428										HNSCC(10;0.0054)			8	104					0	0	0	0	C	152776698	T	C	152776698	3	2	87	1	0	0	0	0	1	0	0	0	15536	1792	62	5	24203	5	SYNE1	6	152776698	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	11148	152776698	18338369	173	16711											
SYNE1	23345	broad.mit.edu	37	chr6	152826378	152826378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccccagttctgtttcggCgatagtgaaagcatcctcca	9	11	9	12	2	1	1	0	1	1	0	5	3	4	1	4	1	1	3	4	1	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:152826378C>T	ENST00000367255.5	-	9	1337	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	SYNE1_ENST00000341594.5_Missense_Mutation_p.A246T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A253T|SYNE1_ENST00000466159.2_Missense_Mutation_p.A246T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A253T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A253T|SYNE1_ENST00000367253.4_Missense_Mutation_p.A246T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A246T|SYNE1_ENST00000413186.2_Missense_Mutation_p.A246T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	246	Actin-binding.|CH 2.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.A246T(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGTTTCGGCGATAGTGAAA	0.433										HNSCC(10;0.0054)			12	57					0	0	0	0	T	152826378	C	T	152826378	3	4	87	1	0	0	0	0	1	0	0	0	15536	768	27	1	26282	1	SYNE1	6	152826378	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	49680	152826378	18288689	174	16712											
ARID1B	57492	broad.mit.edu	37	chr6	157100397	157100399	+	In_Frame_Del	DEL	CGC	CGC	-																															cgagtacagcagccccagcgCgccgccgccgccgccgtcgc																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:157100397_157100399delCGC	ENST00000346085.5	+	1	1335_1337	c.1334_1336delCGC	c.(1333-1338)gcg>g	p.AP445del	ARID1B_ENST00000275248.4_In_Frame_Del_p.AP387del|ARID1B_ENST00000367148.1_In_Frame_Del_p.AP445del|ARID1B_ENST00000350026.5_In_Frame_Del_p.AP445del	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	445	Ala-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.P392_S393insP(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGCCCCAGCGCGCCGCCGCCGCC	0.778													3	5	---	---	---	---					-	157100399	CGC	-	157100397	7	5	87	1	0	1	0	1	0	0	0	0	916	768	27	0	1336	0	ARID1B	6	157100397	In_Frame_Del	DEL	CGC	TCGA-CN-5369-01A-01D-1434-08	4274019	157100397	14014670	175	16713											
TAGAP	117289	broad.mit.edu	37	chr6	159462434	159462434	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcctctccagatccacCgcatccccagagttgagctc	8	7	10	16	1	1	3	0	1	1	2	5	4	3	4	6	1	2	3	6	1	0	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:159462434C>T	ENST00000367066.3	-	6	760	c.429G>A	c.(427-429)gcG>gcA	p.A143A	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_5'UTR|TAGAP_ENST00000338313.5_Silent_p.A143A|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	143	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCAGATCCACCGCATCCCCAG	0.552													13	77					0	0	0	0	T	159462434	C	T	159462434	2	4	87	1	0	0	0	0	0	0	0	1	15628	639	23	1		1	TAGAP	6	159462434	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2362037	159462434	11652633	176	16714											
IGF2R	3482	broad.mit.edu	37	chr6	160468852	160468852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taactccacctacaacttccGgtggtacaccagctatgcct	10	10	6	15	1	0	0	0	0	0	0	2	0	2	0	5	2	6	2	5	2	5	5	rs141234361		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:160468852G>A	ENST00000356956.1	+	17	2406	c.2258G>A	c.(2257-2259)cGg>cAg	p.R753Q		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	753					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TACAACTTCCGGTGGTACACC	0.552													8	94					0	0	0	0	A	160468852	G	A	160468852	3	1	87	1	0	0	0	0	1	0	0	0	7629	1116	39	1	2324	1	IGF2R	6	160468852	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1006418	160468852	10646215	177	16715											
IGF2R	3482	broad.mit.edu	37	chr6	160494801	160494801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaacagaccgaatgttccGtgaggaatggaagctctatt	12	11	10	8	2	1	2	0	1	1	1	2	5	2	4	2	2	2	2	2	2	5	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:160494801G>A	ENST00000356956.1	+	35	5108	c.4960G>A	c.(4960-4962)Gtg>Atg	p.V1654M		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1654					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CGAATGTTCCGTGAGGAATGG	0.403													6	46					0	0	0	0	A	160494801	G	A	160494801	3	1	87	1	0	0	0	0	1	0	0	0	7629	1145	40	1	5098	1	IGF2R	6	160494801	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	25949	160494801	10620266	178	16716											
TCP10	6953	broad.mit.edu	37	chr6	167791449	167791450	+	Frame_Shift_Ins	INS	-	-	G																															cacgaagggtcacctttggaINSggagctaagtggttagatga																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:167791449_167791450insG	ENST00000366827.2	-	4	621_622	c.410_411insC	c.(409-411)cccfs	p.P137fs	TCP10_ENST00000397829.4_Frame_Shift_Ins_p.P137fs			Q12799	TCP10_HUMAN	t-complex 10	164				D -> E (in Ref. 1; AAA82109 and 3; AAH63451).		cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TCACCTTTGGAGGAGCTAAGTG	0.515													12	259	---	---	---	---					G	167791450	-	G	167791449	7	5	87	1	0	1	1	0	0	0	0	0	15804	291	11	0	589	0	TCP10	6	167791449	Frame_Shift_Ins	INS	-	TCGA-CN-5369-01A-01D-1434-08	7296648	167791449	3323618	179	16717											
RAC1	5879	broad.mit.edu	37	chr7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacctggagtgctcggCgctcacacagcgaggcctca	11	6	11	13	3	2	0	2	0	0	0	3	2	2	1	2	3	3	2	2	3	3	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.A178V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GAGTGCTCGGCGCTCACACAG	0.567													11	61					0	0	0	0	T	6441974	C	T	6441974	3	4	87	1	0	0	0	0	1	0	0	0	13056	768	27	1	559	1	RAC1	7	6441974	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08		6441974	152696689	180	16718											
CDCA7L	55536	broad.mit.edu	37	chr7	21946011	21946011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggaggccgcgcactccGggttgggttcatacgccgcg	5	7	15	14	6	2	0	2	0	0	0	3	1	3	1	3	4	1	3	3	4	1	3	rs139249411		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:21946011G>A	ENST00000406877.3	-	6	1096	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	CDCA7L_ENST00000356195.5_Missense_Mutation_p.R239W|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R227W|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	273					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CGCGCACTCCGGGTTGGGTTC	0.527													12	164					0	0	0	0	A	21946011	G	A	21946011	3	1	87	1	0	0	0	0	1	0	0	0	3120	1115	39	1	567	1	CDCA7L	7	21946011	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	15504037	21946011	137192652	181	16719											
NPY	4852	broad.mit.edu	37	chr7	24324938	24324938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgcctgggtgcgctggccGaggcgtacccctccaagccg	4	7	15	15	4	0	0	0	0	0	0	1	1	1	0	6	3	4	2	6	3	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:24324938G>A	ENST00000407573.1	+	3	369	c.79G>A	c.(79-81)Gag>Aag	p.E27K	NPY_ENST00000405982.1_Missense_Mutation_p.E27K|NPY_ENST00000242152.2_Missense_Mutation_p.E27K			P01303	NPY_HUMAN	neuropeptide Y	27					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						TGCGCTGGCCGAGGCGTACCC	0.642													5	55					0	0	0	0	A	24324938	G	A	24324938	3	1	87	1	0	0	0	0	1	0	0	0	10678	1059	37	1	81	1	NPY	7	24324938	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2378927	24324938	134813725	182	16720											
DFNA5	1687	broad.mit.edu	37	chr7	24789321	24789321	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taacttatcagagtcattcaGatttgatactgcaatcaggt	13	14	7	7	0	4	3	4	1	0	2	4	3	4	3	0	1	3	1	0	1	4	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:24789321G>C	ENST00000545231.1	-	0	731				DFNA5_ENST00000409775.3_Missense_Mutation_p.L25V|DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000342947.3_Missense_Mutation_p.L25V|DFNA5_ENST00000409970.1_Intron			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5						sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GAGTCATTCAGATTTGATACT	0.403													22	148					0	0	0	0	C	24789321	G	C	24789321	1	2	87	1	0	0	0	0	0	0	0	0	4491	933	33	2		2	DFNA5	7	24789321	Translation_Start_Site	SNP	G	TCGA-CN-5369-01A-01D-1434-08	464383	24789321	134349342	183	16721											
C7orf31	136895	broad.mit.edu	37	chr7	25176366	25176366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaattaatcgggcaattcgtCcttccaacggtctgggaggt	9	11	12	9	3	1	0	0	0	1	0	5	2	3	1	2	4	1	1	2	4	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:25176366C>T	ENST00000409280.1	-	10	1306	c.998G>A	c.(997-999)gGa>gAa	p.G333E	C7orf31_ENST00000283905.3_Missense_Mutation_p.G333E			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	333										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GGCAATTCGTCCTTCCAACGG	0.433													11	162					0	0	0	0	T	25176366	C	T	25176366	3	4	87	1	0	0	0	0	1	0	0	0	2410	855	30	2	778	2	C7orf31	7	25176366	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	387045	25176366	133962297	184	16722											
PLEKHA8	84725	broad.mit.edu	37	chr7	30094365	30094365	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagatggaatggaaaacctGaaaaatcatgacaataactt	20	8	8	5	0	1	3	1	2	0	1	1	6	1	5	1	2	2	0	1	2	8	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:30094365G>A	ENST00000449726.1	+	8	1187	c.837G>A	c.(835-837)ctG>ctA	p.L279L	PLEKHA8_ENST00000258679.7_Silent_p.L279L|PLEKHA8_ENST00000396259.1_Silent_p.L279L|PLEKHA8_ENST00000396257.2_Silent_p.L279L	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	279					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TGGAAAACCTGAAAAATCATG	0.343													19	101					0	0	0	0	A	30094365	G	A	30094365	2	1	87	1	0	0	0	0	0	0	0	1	12134	1277	45	2		2	PLEKHA8	7	30094365	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	4917999	30094365	129044298	185	16723											
NOD1	10392	broad.mit.edu	37	chr7	30485798	30485798	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgttcttcacagccagggcGagatacttccctccttcact	7	12	7	15	1	3	1	2	0	1	1	5	2	5	1	3	1	2	1	3	1	1	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:30485798G>A	ENST00000222823.4	-	9	2937	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	804					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	p.L804L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGCCAGGGCGAGATACTTCC	0.527													10	152					0	0	0	0	A	30485798	G	A	30485798	2	1	87	1	0	0	0	0	0	0	0	1	10586	1045	37	1		1	NOD1	7	30485798	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	391433	30485798	128652865	186	16724											
NPSR1	387129	broad.mit.edu	37	chr7	34724286	34724286	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttctttgtgactcagctGgccatcacaggtaagtaact	10	12	8	11	0	3	1	2	1	1	0	3	1	3	1	2	2	2	3	2	2	2	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:34724286G>A	ENST00000360581.1	+	2	398	c.270G>A	c.(268-270)ctG>ctA	p.L90L	NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381553.3_Silent_p.L90L|NPSR1_ENST00000381539.3_Silent_p.L90L|NPSR1_ENST00000465305.1_Silent_p.L90L|NPSR1_ENST00000381542.1_Silent_p.L90L|NPSR1_ENST00000359791.1_Silent_p.L90L|NPSR1_ENST00000531252.1_Silent_p.L90L	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	90						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGACTCAGCTGGCCATCACAG	0.393													6	69					0	0	0	0	A	34724286	G	A	34724286	2	1	87	1	0	0	0	0	0	0	0	1	10671	1335	47	4		4	NPSR1	7	34724286	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	4238488	34724286	124414377	187	16725											
TBX20	57057	broad.mit.edu	37	chr7	35280555	35280555	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagatgaaagttctaaatTcttcagacttcaggttgagc	14	12	9	6	0	4	4	2	2	2	2	4	5	4	4	0	1	1	2	0	1	4	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:35280555T>C	ENST00000408931.3	-	5	1275	c.749A>G	c.(748-750)gAa>gGa	p.E250G		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	250						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGTTCTAAATTCTTCAGACTT	0.398													5	46					0	0	0	0	C	35280555	T	C	35280555	3	2	87	1	0	0	0	0	1	0	0	0	15750	1783	62	5	611	5	TBX20	7	35280555	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	556269	35280555	123858108	188	16726											
GLI3	2737	broad.mit.edu	37	chr7	42017296	42017296	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttttcaagttttctagtctcGagtaggcctttgtgcaacct	7	17	8	9	1	3	0	1	0	2	0	4	1	3	0	2	1	2	3	2	1	4	7			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:42017296G>C	ENST00000395925.3	-	12	1757	c.1673C>G	c.(1672-1674)tCg>tGg	p.S558W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	558					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTCTAGTCTCGAGTAGGCCTT	0.458									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	84					0	0	0	0	C	42017296	G	C	42017296	3	2	87	1	0	0	0	0	1	0	0	0	6490	1059	37	3	3085	3	GLI3	7	42017296	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	6736741	42017296	117121367	189	16727											
MRPS24	64951	broad.mit.edu	37	chr7	43906549	43906549	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaacatcctccaccgttcGctctgcggcatggtcctctc	7	10	8	16	3	2	0	0	0	2	0	7	1	5	0	4	2	2	3	4	2	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:43906549G>A	ENST00000317534.5	-	4	314	c.253C>T	c.(253-255)Cga>Tga	p.R85*	MRPS24_ENST00000467084.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_3'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	85					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TCCACCGTTCGCTCTGCGGCA	0.557													9	80					0	0	0	0	A	43906549	G	A	43906549	4	1	87	1	0	0	0	0	0	1	0	0	9905	1095	38	1	254	1	MRPS24	7	43906549	Nonsense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1889253	43906549	115232114	190	16728											
AEBP1	165	broad.mit.edu	37	chr7	44152667	44152667	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtgacaagttccctcatGagagtgagctgccccgcgag	8	8	13	12	2	1	3	1	3	0	1	2	5	2	3	3	0	2	3	3	0	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:44152667G>C	ENST00000223357.3	+	19	2952	c.2647G>C	c.(2647-2649)Gag>Cag	p.E883Q	AEBP1_ENST00000450684.2_Missense_Mutation_p.E458Q	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	883	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GTTCCCTCATGAGAGTGAGCT	0.587													8	187					0	0	0	0	C	44152667	G	C	44152667	3	2	87	1	0	0	0	0	1	0	0	0	349	1291	45	2	2721	2	AEBP1	7	44152667	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	246118	44152667	114985996	191	16729											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C																															cgccctgggccccggcgctgINSccccctttgcccccctgcag																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)cccfs	p.P728fs	ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698													7	15	---	---	---	---					C	44805119	-	C	44805118	7	5	87	1	0	1	1	0	0	0	0	0	17792	1319	46	0	2240	0	ZMIZ2	7	44805118	Frame_Shift_Ins	INS	-	TCGA-CN-5369-01A-01D-1434-08	652451	44805118	114333545	192	16730											
IGFBP3	3486	broad.mit.edu	37	chr7	45956231	45956231	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgaggaacttcaggtgAttcagtgtgtcttccatttc	9	15	9	8	0	3	2	2	2	1	0	5	3	4	3	1	2	1	0	1	2	1	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:45956231A>T	ENST00000275521.6	-	3	799	c.666T>A	c.(664-666)aaT>aaA	p.N222K	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.N228K|IGFBP3_ENST00000381086.5_Missense_Mutation_p.N125K	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	222	Thyroglobulin type-1.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	ACTTCAGGTGATTCAGTGTGT	0.463													12	119					0	0	0	0	T	45956231	A	T	45956231	3	4	87	1	0	0	0	0	1	0	0	0	7633	330	12	5	217	5	IGFBP3	7	45956231	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	1151113	45956231	113182432	193	16731											
PKD1L1	168507	broad.mit.edu	37	chr7	47906074	47906074	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgcatcctgtattcgtgaCcattggttgcaggaggcagt	9	12	12	8	1	0	1	0	1	0	0	2	2	1	2	2	3	2	5	2	3	2	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:47906074C>G	ENST00000289672.2	-	25	4085	c.4035G>C	c.(4033-4035)tgG>tgC	p.W1345C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1345	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTATTCGTGACCATTGGTTGC	0.433													11	121					0	0	0	0	G	47906074	C	G	47906074	3	3	87	1	0	0	0	0	1	0	0	0	12036	508	18	4	4646	4	PKD1L1	7	47906074	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1949843	47906074	111232589	194	16732											
ABCA13	154664	broad.mit.edu	37	chr7	48428758	48428758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagacctcagcctgaccttCtacagagaccaaatcaccgc	13	6	6	16	1	3	3	2	1	1	2	3	4	3	3	5	0	2	0	5	0	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:48428758C>G	ENST00000435803.1	+	37	11619	c.11595C>G	c.(11593-11595)ttC>ttG	p.F3865L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3865	ABC transporter 1.				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						GCCTGACCTTCTACAGAGACC	0.537													9	58					0	0	0	0	G	48428758	C	G	48428758	3	3	87	1	0	0	0	0	1	0	0	0	31	912	32	2	11570	2	ABCA13	7	48428758	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	522684	48428758	110709905	195	16733											
TYW1B	441250	broad.mit.edu	37	chr7	72297412	72297413	+	RNA	INS	-	-	A																															tgatgcctaaatactctattINSaaaaaaaataactccactta																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:72297412_72297413insA	ENST00000438125.1	-	0	234							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										AATACTCTATTAAAAAAAATAA	0.322													14	89	---	---	---	---					A	72297413	-	A	72297412	6	5	87	0	1	1	1	0	0	0	0	0	16915	1769	61	0		0	TYW1B	7	72297412	RNA	INS	-	TCGA-CN-5369-01A-01D-1434-08	23868654	72297412	86841251	196	16734											
STAG3L3	442578	broad.mit.edu	37	chr7	72470019	72470019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataagtatcagtaatctgaCggcctccactgccacactgt	11	10	8	12	1	2	1	1	1	1	0	3	2	3	1	3	1	1	2	3	1	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:72470019C>T	ENST00000308103.6	-	6	705	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	STAG3L3_ENST00000448173.1_Missense_Mutation_p.V108I|STAG3L3_ENST00000426587.1_Missense_Mutation_p.V54I|STAG3L3_ENST00000569650.1_Missense_Mutation_p.V108I|STAG3L3_ENST00000436857.1_Missense_Mutation_p.V108I			P0CL85	ST3L3_HUMAN		108						nucleus	binding			breast(1)|lung(1)|stomach(1)	3		Lung NSC(55;0.197)				AGTAATCTGACGGCCTCCACT	0.507													10	149					0	0	0	0	T	72470019	C	T	72470019	3	4	87	1	0	0	0	0	1	0	0	0	15336	536	19	1	90	1	STAG3L3	7	72470019	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	172607	72470019	86668644	197	16735											
ELN	2006	broad.mit.edu	37	chr7	73455550	73455550	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcttatccacagttccCggagggcttgcgggtgctgg	4	13	14	10	2	1	0	0	0	1	0	3	1	3	1	2	4	2	4	2	4	1	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:73455550C>T	ENST00000252034.7	+	5	600	c.201C>T	c.(199-201)ccC>ccT	p.P67P	ELN_ENST00000445912.1_Silent_p.P67P|ELN_ENST00000429192.1_Silent_p.P67P|ELN_ENST00000357036.5_Silent_p.P67P|ELN_ENST00000414324.1_Silent_p.P57P|ELN_ENST00000320399.6_Silent_p.P67P|ELN_ENST00000358929.4_Silent_p.P67P|ELN_ENST00000380575.4_Silent_p.P57P|ELN_ENST00000380553.4_Silent_p.P67P|ELN_ENST00000380584.4_Silent_p.P67P|ELN_ENST00000320492.7_Intron|ELN_ENST00000380562.4_Silent_p.P67P|ELN_ENST00000380576.5_Silent_p.P67P|ELN_ENST00000458204.1_Silent_p.P57P	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	67					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCACAGTTCCCGGAGGGCTTG	0.587			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						24	260					0	0	0	0	T	73455550	C	T	73455550	2	4	87	1	0	0	0	0	0	0	0	1	5109	639	23	1		1	ELN	7	73455550	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	985531	73455550	85683113	198	16736											
ZNF804B	219578	broad.mit.edu	37	chr7	88962840	88962840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatcatatccgataaacagCggtccaccatgccaaatcga	15	7	7	12	3	1	0	1	0	0	0	4	3	3	0	4	1	3	0	4	1	5	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:88962840C>T	ENST00000333190.4	+	4	1153	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	182						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CGATAAACAGCGGTCCACCAT	0.413										HNSCC(36;0.09)			5	79					0	0	0	0	T	88962840	C	T	88962840	3	4	87	1	0	0	0	0	1	0	0	0	18264	759	27	1	558	1	ZNF804B	7	88962840	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	15507290	88962840	70175823	199	16737											
ANKIB1	54467	broad.mit.edu	37	chr7	92027054	92027054	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatattccagaaggcggcAgcagcagccgcaggcctggc	10	4	14	13	2	0	2	0	0	0	2	1	2	1	2	3	4	3	4	3	4	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:92027054A>G	ENST00000265742.3	+	19	2789	c.2413A>G	c.(2413-2415)Agc>Ggc	p.S805G		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	805							protein binding|zinc ion binding	p.S805G(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAGGCGGCAGCAGCAGCCG	0.458													30	217					0	0	0	0	G	92027054	A	G	92027054	3	3	87	1	0	0	0	0	1	0	0	0	630	188	7	5	2483	5	ANKIB1	7	92027054	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	3064214	92027054	67111609	200	16738											
PON3	5446	broad.mit.edu	37	chr7	94996775	94996775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttcatgtggggatgattCacaacataaagatacacagt	15	10	9	7	0	2	2	2	1	0	1	2	4	2	3	0	2	2	0	0	2	4	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:94996775C>T	ENST00000265627.5	-	5	403	c.393G>A	c.(391-393)gtG>gtA	p.V131V	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.V131V	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			GGGGATGATTCACAACATAAA	0.328													6	101					0	0	0	0	T	94996775	C	T	94996775	2	4	87	1	0	0	0	0	0	0	0	1	12322	813	29	2		2	PON3	7	94996775	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2969721	94996775	64141888	201	16739											
GAL3ST4	79690	broad.mit.edu	37	chr7	99758482	99758482	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtgacttgcggaaggctGatgaggtggatttatagtag	10	12	16	3	1	0	3	0	3	0	0	0	5	0	5	0	5	1	2	0	5	4	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:99758482G>A	ENST00000423751.1	-	3	481	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S177L|GAL3ST4_ENST00000360039.4_Missense_Mutation_p.S177L|GAL3ST4_ENST00000411994.1_Nonsense_Mutation_p.Q76*|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S115L			Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	234					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGGAAGGCTGATGAGGTGGA	0.552													6	85					0	0	0	0	A	99758482	G	A	99758482	4	1	87	1	0	0	0	0	0	1	0	0	6249	1294	45	2	934	2	GAL3ST4	7	99758482	Nonsense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	4761707	99758482	59380181	202	16740											
PSMC2	5701	broad.mit.edu	37	chr7	102996176	102996176	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactggcctggccccaccaGcactctgggatttggctgca	7	8	11	15	0	1	0	0	0	1	0	1	1	1	1	4	4	2	3	4	4	0	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:102996176G>C	ENST00000435765.1	+	5	637	c.226G>C	c.(226-228)Gca>Cca	p.A76P	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.A76P|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Intron|SLC26A5_ENST00000393735.2_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GGCCCCACCAGCACTCTGGGA	0.443													6	44					0	0	0	0	C	102996176	G	C	102996176	3	2	87	1	0	0	0	0	1	0	0	0	12765	971	34	4	240	4	PSMC2	7	102996176	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3237694	102996176	56142487	203	16741											
RELN	5649	broad.mit.edu	37	chr7	103138545	103138545	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacctcgaagatccaaaTcttgtgtaaccgcttgtctc	9	13	7	12	2	2	1	0	0	2	1	5	2	3	1	3	0	2	3	3	0	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:103138545T>A	ENST00000424685.2	-	54	8981	c.8822A>T	c.(8821-8823)gAt>gTt	p.D2941V	RELN_ENST00000343529.5_Missense_Mutation_p.D2941V|RELN_ENST00000428762.1_Missense_Mutation_p.D2941V|CTB-107G13.1_ENST00000422488.1_RNA			P78509	RELN_HUMAN	reelin	2941					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGATCCAAATCTTGTGTAAC	0.423													10	90					0	0	0	0	A	103138545	T	A	103138545	3	1	87	1	0	0	0	0	1	0	0	0	13302	1435	50	5	1608	5	RELN	7	103138545	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	142369	103138545	56000118	204	16742											
CTTNBP2	83992	broad.mit.edu	37	chr7	117375351	117375351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagtgcaggggctttcagtGctgcgattttcaagaggtgc	9	11	14	7	1	2	1	2	0	0	1	2	2	2	1	0	3	4	3	0	3	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:117375351G>A	ENST00000160373.3	-	15	3751	c.3660C>T	c.(3658-3660)agC>agT	p.S1220S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1220										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGCTTTCAGTGCTGCGATTTT	0.388													5	81					0	0	0	0	A	117375351	G	A	117375351	2	1	87	1	0	0	0	0	0	0	0	1	4077	1310	46	4		4	CTTNBP2	7	117375351	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	14236806	117375351	41763312	205	16743											
GPR37	2861	broad.mit.edu	37	chr7	124386639	124386639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgtatggtactgaaaggCgagagttcgagttccgtggt	8	10	16	7	5	0	2	0	1	0	1	2	4	1	2	1	4	1	4	1	4	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:124386639C>T	ENST00000303921.2	-	2	2432	c.1782G>A	c.(1780-1782)tcG>tcA	p.S594S		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	594						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACTGAAAGGCGAGAGTTCGA	0.463													16	121					0	0	0	0	T	124386639	C	T	124386639	2	4	87	1	0	0	0	0	0	0	0	1	6740	755	27	1		1	GPR37	7	124386639	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	7011288	124386639	34752024	206	16744											
CPA2	1358	broad.mit.edu	37	chr7	129910535	129910535	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agaattgttttatcttaggtCctgttggacaaagagaatga	13	14	10	4	0	1	3	0	1	1	2	2	5	2	4	1	2	0	2	1	2	5	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:129910535C>G	ENST00000222481.4	+	4	346	c.291C>G	c.(289-291)gtC>gtG	p.V97V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	97					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TATCTTAGGTCCTGTTGGACA	0.423													10	79					0	0	0	0	G	129910535	C	G	129910535	2	3	87	1	0	0	0	0	0	0	0	1	3820	842	30	2		2	CPA2	7	129910535	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	5523896	129910535	29228128	207	16745											
NUP205	23165	broad.mit.edu	37	chr7	135258404	135258404	+	Frame_Shift_Del	DEL	A	A	-																															acaattttatcattgtagccAaaaaatgttcaacagcatga																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:135258404delA	ENST00000285968.6	+	3	200	c.174delA	c.(172-174)ccfs	p.P58fs	NUP205_ENST00000440390.2_5'UTR|NUP205_ENST00000489493.1_3'UTR	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	58					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CATTGTAGCCAAAAAATGTTC	0.413													7	59	---	---	---	---					-	135258404	A	-	135258404	7	5	87	1	0	1	0	1	0	0	0	0	10830	117	5	0	184	0	NUP205	7	135258404	Frame_Shift_Del	DEL	A	TCGA-CN-5369-01A-01D-1434-08	5347869	135258404	23880259	208	16746											
DGKI	9162	broad.mit.edu	37	chr7	137092654	137092654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatttcacaatctccccgtTgccggttttagctgcgtagt	7	15	8	11	3	2	0	1	0	1	0	3	0	2	0	3	1	3	4	3	1	4	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:137092654T>C	ENST00000453654.1	-	30	2457	c.1918A>G	c.(1918-1920)Aac>Gac	p.N640D	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.N953D|DGKI_ENST00000424189.2_Missense_Mutation_p.N984D|DGKI_ENST00000288490.5_Missense_Mutation_p.N971D			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	971					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCTCCCCGTTGCCGGTTTTA	0.428													5	99					0	0	0	0	C	137092654	T	C	137092654	3	2	87	1	0	0	0	0	1	0	0	0	4508	1812	63	5	302	5	DGKI	7	137092654	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	1834250	137092654	22046009	209	16747											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138394405	138394405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgcaggaaagcagagaggCcctccatgatcagaaggatg	13	5	14	9	1	1	3	1	1	0	2	2	6	2	5	2	3	2	2	2	3	2	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:138394405C>T	ENST00000310018.2	-	21	2675	c.2393G>A	c.(2392-2394)gGc>gAc	p.G798D	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G798D|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G798D	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	798					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCAGAGAGGCCCTCCATGAT	0.562													11	212					0	0	0	0	T	138394405	C	T	138394405	3	4	87	1	0	0	0	0	1	0	0	0	1174	739	26	4	137	4	ATP6V0A4	7	138394405	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1301751	138394405	20744258	210	16748											
TTC26	79989	broad.mit.edu	37	chr7	138874171	138874171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaaagaaaacagagtgtCcatctaaaatagcgccagcg	16	5	10	10	2	1	2	0	0	1	2	2	2	2	2	3	1	3	0	3	1	6	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:138874171C>A	ENST00000464848.1	+	18	1738	c.1658C>A	c.(1657-1659)tCc>tAc	p.S553Y	TTC26_ENST00000495038.1_Missense_Mutation_p.S422Y|TTC26_ENST00000430935.1_3'UTR|TTC26_ENST00000343187.4_Missense_Mutation_p.S522Y|TTC26_ENST00000478836.2_Missense_Mutation_p.S446Y			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	553							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AACAGAGTGTCCATCTAAAAT	0.428													11	106					4.68919e-08	5.12617e-08	1	0	A	138874171	C	A	138874171	3	1	87	1	0	0	0	0	1	0	0	0	16790	855	30	2	1728	2	TTC26	7	138874171	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	479766	138874171	20264492	211	16749											
DENND2A	27147	broad.mit.edu	37	chr7	140301642	140301642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagggcagtgtggggagtAacaagtccctggtaactggg	10	7	18	6	0	0	0	0	0	0	0	1	2	1	2	1	6	2	3	1	6	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:140301642A>G	ENST00000275884.6	-	2	973	c.556T>C	c.(556-558)Tac>Cac	p.Y186H	DENND2A_ENST00000537639.1_Missense_Mutation_p.Y186H|DENND2A_ENST00000496613.1_Missense_Mutation_p.Y186H|DENND2A_ENST00000492720.1_Missense_Mutation_p.Y186H			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	186										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGTGGGGAGTAACAAGTCCCT	0.607													12	75					0	0	0	0	G	140301642	A	G	140301642	3	3	87	1	0	0	0	0	1	0	0	0	4466	362	13	5	2545	5	DENND2A	7	140301642	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	1427471	140301642	18837021	212	16750											
OR6B1	135946	broad.mit.edu	37	chr7	143701563	143701563	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctttggcatctccctggcGaagatctacttcatctcctg	6	13	9	13	1	4	1	1	0	3	1	6	2	4	1	2	3	1	2	2	3	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:143701563G>A	ENST00000408922.2	+	1	542	c.474G>A	c.(472-474)gcG>gcA	p.A158A		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A158A(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCTCCCTGGCGAAGATCTACT	0.532													8	74					0	0	0	0	A	143701563	G	A	143701563	2	1	87	1	0	0	0	0	0	0	0	1	11258	1045	37	1		1	OR6B1	7	143701563	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3399921	143701563	15437100	213	16751											
CUL1	8454	broad.mit.edu	37	chr7	148463737	148463737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaattagcaaggaaatgtGaacaagtcctcattgaaaaa	19	9	8	5	0	1	3	1	3	0	0	2	4	2	4	1	1	2	1	1	1	8	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:148463737G>A	ENST00000325222.4	+	8	1153	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	CUL1_ENST00000602748.1_Missense_Mutation_p.E292K|CUL1_ENST00000409469.1_Missense_Mutation_p.E292K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	292					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAGGAAATGTGAACAAGTCCT	0.378													13	54					0	0	0	0	A	148463737	G	A	148463737	3	1	87	1	0	0	0	0	1	0	0	0	4086	1291	45	2	900	2	CUL1	7	148463737	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	4762174	148463737	10674926	214	16752											
ZNF786	136051	broad.mit.edu	37	chr7	148767536	148767536	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caactccaatcggcctctatCattgcaaacagttggctgag	11	10	8	12	1	2	1	1	1	1	0	4	1	3	1	2	2	3	3	2	2	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:148767536C>G	ENST00000316286.9	-	3	2342	c.2070G>C	c.(2068-2070)atG>atC	p.M690I	ZNF786_ENST00000451334.3_Missense_Mutation_p.M739I|ZNF786_ENST00000491431.1_Missense_Mutation_p.M776I			Q8N393	ZN786_HUMAN	zinc finger protein 786	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGGCCTCTATCATTGCAAACA	0.498													20	262					0	0	0	0	G	148767536	C	G	148767536	3	3	87	1	0	0	0	0	1	0	0	0	18251	826	29	2	24	2	ZNF786	7	148767536	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	303799	148767536	10371127	215	16753											
SMARCD3	6604	broad.mit.edu	37	chr7	150945607	150945607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactcaaaaagtttgcttttCgtggctttgcgcgcccctcc	7	13	8	13	3	1	0	1	0	0	0	3	0	2	0	3	1	3	3	3	1	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:150945607C>T	ENST00000262188.8	-	1	452	c.42G>A	c.(40-42)acG>acA	p.T14T	SMARCD3_ENST00000356800.2_Intron|SMARCD3_ENST00000477169.1_Intron|SMARCD3_ENST00000392811.2_Intron	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	14					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTTGCTTTTCGTGGCTTTGC	0.592													5	99					0	0	0	0	T	150945607	C	T	150945607	2	4	87	1	0	0	0	0	0	0	0	1	14867	871	31	1		1	SMARCD3	7	150945607	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2178071	150945607	8193056	216	16754											
ESYT2	57488	broad.mit.edu	37	chr7	158557391	158557391	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atagacttcattccactttgGactgaggttctccttgatga	9	15	8	9	0	2	4	1	3	1	1	4	5	3	5	2	2	0	1	2	2	1	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:158557391G>C	ENST00000251527.5	-	9	1287	c.1222C>G	c.(1222-1224)Cca>Gca	p.P408A		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	436	C2 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TTCCACTTTGGACTGAGGTTC	0.512													13	132					0	0	0	0	C	158557391	G	C	158557391	3	2	87	1	0	0	0	0	1	0	0	0	5303	1174	41	2	1515	2	ESYT2	7	158557391	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	7611784	158557391	581272	217	16755											
RP1L1	94137	broad.mit.edu	37	chr8	10470757	10470757	+	Frame_Shift_Del	DEL	G	G	-																															tgccaggagcagggcccaccGgggggttgctaggaccaggc																								rs74594406	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:10470757delG	ENST00000382483.3	-	4	1074	c.851delC	c.(850-852)cgfs	p.P284fs		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	284					intracellular signal transduction					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)		AGGGCCCACCGGGGGGTTGCT	0.662													8	122	---	---	---	---					-	10470757	G	-	10470757	7	5	87	1	0	1	0	1	0	0	0	0	13618	1116	39	0	6355	0	RP1L1	8	10470757	Frame_Shift_Del	DEL	G	TCGA-CN-5369-01A-01D-1434-08		10470757	135893265	218	16756											
USP17L2	377630	broad.mit.edu	37	chr8	11994694	11994694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcactggcacacaagcaGagccctcttgctgtgtttgt	9	11	10	11	0	2	2	1	0	1	2	2	2	2	2	1	1	3	4	1	1	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:11994694G>C	ENST00000333796.3	-	1	1892	c.1576C>G	c.(1576-1578)Ctg>Gtg	p.L526V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	526					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CACACAAGCAGAGCCCTCTTG	0.572													9	87					0	0	0	0	C	11994694	G	C	11994694	3	2	87	1	0	0	0	0	1	0	0	0	17144	933	33	2	20	2	USP17L2	8	11994694	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1523937	11994694	134369328	219	16757											
TUSC3	7991	broad.mit.edu	37	chr8	15480730	15480730	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttatgttcactgctcttCagcctcagcggcagtgttct	5	16	9	11	1	5	0	3	0	2	0	5	0	5	0	1	1	3	5	1	1	1	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:15480730C>T	ENST00000382020.4	+	2	488	c.280C>T	c.(280-282)Cag>Tag	p.Q94*	TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000509380.1_Nonsense_Mutation_p.Q94*|TUSC3_ENST00000503731.1_Nonsense_Mutation_p.Q94*|TUSC3_ENST00000506802.1_Nonsense_Mutation_p.Q94*	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	94					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CACTGCTCTTCAGCCTCAGCG	0.323													5	85					0	0	0	0	T	15480730	C	T	15480730	4	4	87	1	0	0	0	0	0	1	0	0	16874	827	29	2	286	2	TUSC3	8	15480730	Nonsense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	3486036	15480730	130883292	220	16758											
PSD3	23362	broad.mit.edu	37	chr8	18490296	18490296	+	Frame_Shift_Del	DEL	T	T	-																															cagtactttctgagggagacTtttttttctcttcatcatct																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:18490296delT	ENST00000440756.2	-	11	2345	c.2243delA	c.(2242-2244)agfs	p.K748fs	PSD3_ENST00000327040.8_Frame_Shift_Del_p.K746fs|PSD3_ENST00000523619.1_Frame_Shift_Del_p.K681fs|PSD3_ENST00000428502.2_Frame_Shift_Del_p.K75fs|PSD3_ENST00000286485.8_Frame_Shift_Del_p.K212fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	747					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGAGGGAGACTTTTTTTTCTC	0.363													7	42	---	---	---	---					-	18490296	T	-	18490296	7	5	87	1	0	1	0	1	0	0	0	0	12727	1609	56	0	930	0	PSD3	8	18490296	Frame_Shift_Del	DEL	T	TCGA-CN-5369-01A-01D-1434-08	3009566	18490296	127873726	221	16759											
PSD3	23362	broad.mit.edu	37	chr8	18729698	18729698	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatctgggaaatctctgcctGagtgtctccagttaacagcg	9	12	10	10	1	3	1	0	1	3	0	5	2	3	2	2	1	3	1	2	1	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:18729698G>A	ENST00000440756.2	-	3	778	c.676C>T	c.(676-678)Cag>Tag	p.Q226*	PSD3_ENST00000523619.1_Nonsense_Mutation_p.Q161*|PSD3_ENST00000327040.8_Nonsense_Mutation_p.Q226*			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	226					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATCTCTGCCTGAGTGTCTCCA	0.473													6	141					0	0	0	0	A	18729698	G	A	18729698	4	1	87	1	0	0	0	0	0	1	0	0	12727	1299	45	2	2559	2	PSD3	8	18729698	Nonsense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	239402	18729698	127634324	222	16760											
PRKDC	5591	broad.mit.edu	37	chr8	48706964	48706964	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtagttatcagtgatttcTtccacagagtgctgaacagc	10	12	11	8	0	2	3	1	2	1	1	3	3	3	3	1	1	3	3	1	1	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:48706964T>A	ENST00000314191.2	-	75	10610	c.10554A>T	c.(10552-10554)gaA>gaT	p.E3518D	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E3518D	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3519	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CAGTGATTTCTTCCACAGAGT	0.468								Non-homologous end-joining					4	39					0	0	0	0	A	48706964	T	A	48706964	3	1	87	1	0	0	0	0	1	0	0	0	12601	1606	56	5	1881	5	PRKDC	8	48706964	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	29977266	48706964	97657058	223	16761											
XKR4	114786	broad.mit.edu	37	chr8	56435944	56435944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagcccatcagctacatgGccgtcatcatccagttctgc	10	9	8	14	1	4	1	3	0	1	1	5	1	5	1	3	1	4	2	3	1	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:56435944G>A	ENST00000327381.5	+	3	1211	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	371						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCTACATGGCCGTCATCAT	0.587													7	100					0	0	0	0	A	56435944	G	A	56435944	3	1	87	1	0	0	0	0	1	0	0	0	17529	1203	42	4	1121	4	XKR4	8	56435944	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	7728980	56435944	89928078	224	16762											
FAM110B	90362	broad.mit.edu	37	chr8	59059120	59059120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccaagaccgagagcggcGtgcagagggagaacctgaag	13	2	16	10	4	0	5	0	1	0	4	0	7	0	5	3	2	3	1	3	2	3	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:59059120G>A	ENST00000361488.3	+	5	1211	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	111						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CGAGAGCGGCGTGCAGAGGGA	0.652													4	37					0	0	0	0	A	59059120	G	A	59059120	3	1	87	1	0	0	0	0	1	0	0	0	5438	1145	40	1	333	1	FAM110B	8	59059120	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2623176	59059120	87304902	225	16763											
VCPIP1	80124	broad.mit.edu	37	chr8	67578144	67578144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatataatggtttctaccGgagctgctccatgcaataca	11	11	10	9	1	1	0	0	0	1	0	2	2	2	2	2	3	5	4	2	3	5	5	rs117246146		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:67578144G>A	ENST00000310421.4	-	1	1308	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	350	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGTTTCTACCGGAGCTGCTCC	0.483													19	173					0	0	0	0	A	67578144	G	A	67578144	2	1	87	1	0	0	0	0	0	0	0	1	17237	1103	39	1		1	VCPIP1	8	67578144	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	8519024	67578144	78785878	226	16764											
PREX2	80243	broad.mit.edu	37	chr8	69103989	69103989	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaagtcaaattcaccacCaaactccacatccaaagctg	16	6	5	14	0	2	0	2	0	0	0	4	1	4	1	4	1	2	1	4	1	4	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:69103989C>G	ENST00000288368.4	+	36	4656	c.4379C>G	c.(4378-4380)cCa>cGa	p.P1460R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1460					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.P1460Q(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AATTCACCACCAAACTCCACA	0.313													6	48					0	0	0	0	G	69103989	C	G	69103989	3	3	87	1	0	0	0	0	1	0	0	0	12557	594	21	4	4750	4	PREX2	8	69103989	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1525845	69103989	77260033	227	16765											
JPH1	56704	broad.mit.edu	37	chr8	75227552	75227552	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctcgagatggaagacttgGattcggacttgcgaagtttc	9	12	13	7	3	0	2	0	0	0	2	3	7	0	5	0	3	2	2	0	3	2	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:75227552G>T	ENST00000342232.4	-	2	723	c.683C>A	c.(682-684)tCc>tAc	p.S228Y		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	228	Ser-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGAAGACTTGGATTCGGACTT	0.577													11	109					0.00136819	0.00140742	1	0	T	75227552	G	T	75227552	3	4	87	1	0	0	0	0	1	0	0	0	8013	1174	41	2	1318	2	JPH1	8	75227552	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	6123563	75227552	71136470	228	16766											
OTUD6B	51633	broad.mit.edu	37	chr8	92083441	92083441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaactcaccgaagatgtggCcaagttggaaaaagaaatgg	16	6	12	7	1	1	2	1	0	0	2	1	4	1	3	2	3	1	2	2	3	6	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:92083441C>T	ENST00000285420.4	+	2	347	c.248C>T	c.(247-249)gCc>gTc	p.A83V	OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	53										endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GAAGATGTGGCCAAGTTGGAA	0.393													12	67					0	0	0	0	T	92083441	C	T	92083441	3	4	87	1	0	0	0	0	1	0	0	0	11388	739	26	4	254	4	OTUD6B	8	92083441	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	16855889	92083441	54280581	229	16767											
CSMD3	114788	broad.mit.edu	37	chr8	113318368	113318368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgttcctaccaaatagtCtgttgttagtattcctccat	8	16	6	11	2	1	0	0	0	1	0	5	0	4	0	4	0	1	4	4	0	5	7			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:113318368C>A	ENST00000297405.5	-	51	8183	c.7939G>T	c.(7939-7941)Gac>Tac	p.D2647Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.D2577Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D2607Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D2543Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2647	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCAAATAGTCTGTTGTTAGT	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	67					0.00909568	0.00924727	1	0	A	113318368	C	A	113318368	3	1	87	1	0	0	0	0	1	0	0	0	3978	913	32	2	3268	2	CSMD3	8	113318368	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	21234927	113318368	33045654	230	16768											
ENPP2	5168	broad.mit.edu	37	chr8	120569896	120569896	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctagctgtgtgcatcttcatGagttcttctacccattttga	7	17	7	10	0	4	2	1	2	3	0	4	2	4	2	1	0	3	3	1	0	2	7			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:120569896G>C	ENST00000427067.2	-	26	2700	c.2520C>G	c.(2518-2520)ctC>ctG	p.L840L	ENPP2_ENST00000522826.1_Silent_p.L844L|ENPP2_ENST00000259486.6_Silent_p.L871L|ENPP2_ENST00000075322.6_Silent_p.L819L|ENPP2_ENST00000522167.1_Silent_p.L454L			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	819	Required for secretion (By similarity).				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCATCTTCATGAGTTCTTCTA	0.463													13	130					0	0	0	0	C	120569896	G	C	120569896	2	2	87	1	0	0	0	0	0	0	0	1	5168	1277	45	2		2	ENPP2	8	120569896	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	7251528	120569896	25794126	231	16769											
TAF2	6873	broad.mit.edu	37	chr8	120772953	120772953	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcacatgtccgttcttctGaagtacccgtatggctctca	7	13	9	12	2	3	1	1	1	3	0	5	1	4	1	2	2	1	5	2	2	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:120772953G>A	ENST00000378164.2	-	20	2882	c.2584C>T	c.(2584-2586)Cag>Tag	p.Q862*	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	862					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCGTTCTTCTGAAGTACCCGT	0.393													9	105					0	0	0	0	A	120772953	G	A	120772953	4	1	87	1	0	0	0	0	0	1	0	0	15615	1299	45	2	1043	2	TAF2	8	120772953	Nonsense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	203057	120772953	25591069	232	16770											
COL14A1	7373	broad.mit.edu	37	chr8	121379412	121379412	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaattattttaaacaggtCtaactggtatcaaaggagaa	19	11	7	4	0	2	1	1	0	1	1	2	2	2	1	0	3	2	1	0	3	9	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:121379412C>G	ENST00000297848.3	+	46	5350	c.5080C>G	c.(5080-5082)Cta>Gta	p.L1694V	COL14A1_ENST00000247781.3_Missense_Mutation_p.L1599V|COL14A1_ENST00000309791.4_Missense_Mutation_p.L1694V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1694	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ttaaaCAGGTCTAACTGGTAT	0.383													5	41					0	0	0	0	G	121379412	C	G	121379412	3	3	87	1	0	0	0	0	1	0	0	0	3701	912	32	2	5258	2	COL14A1	8	121379412	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	606459	121379412	24984610	233	16771											
ZHX1	11244	broad.mit.edu	37	chr8	124266008	124266008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actacttgaattggcgctctGatagtagtagtaccatttca	11	14	8	8	1	2	2	1	2	1	0	2	2	2	2	1	1	2	4	1	1	6	8			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:124266008G>C	ENST00000395571.3	-	3	2796	c.2179C>G	c.(2179-2181)Cag>Gag	p.Q727E	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.Q727E|ZHX1_ENST00000522655.1_Missense_Mutation_p.Q727E	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	727					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTGGCGCTCTGATAGTAGTAG	0.502													10	91					0	0	0	0	C	124266008	G	C	124266008	3	2	87	1	0	0	0	0	1	0	0	0	17770	1299	45	2	446	2	ZHX1	8	124266008	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2886596	124266008	22098014	234	16772											
ZHX1	11244	broad.mit.edu	37	chr8	124267621	124267621	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccgtttattttccactttaTttttcatcattttcatgata	8	23	2	8	1	3	1	3	1	0	0	5	1	5	1	2	0	0	1	2	0	3	11			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:124267621T>C	ENST00000395571.3	-	3	1183	c.566A>G	c.(565-567)aAt>aGt	p.N189S	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.N189S|ZHX1_ENST00000522655.1_Missense_Mutation_p.N189S	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	189					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCCACTTTATTTTTCATCAT	0.353													13	132					0	0	0	0	C	124267621	T	C	124267621	3	2	87	1	0	0	0	0	1	0	0	0	17770	1493	52	5	2059	5	ZHX1	8	124267621	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	1613	124267621	22096401	235	16773											
ADCY8	114	broad.mit.edu	37	chr8	131792719	131792719	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacaaagtccgccggttgtAatgacccttgatgattcctg	10	11	9	11	2	0	3	0	3	0	0	2	3	2	3	4	1	1	2	4	1	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:131792719A>G	ENST00000286355.5	-	18	5765	c.3673T>C	c.(3673-3675)Tac>Cac	p.Y1225H	ADCY8_ENST00000377928.3_Missense_Mutation_p.Y1094H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1225					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGCCGGTTGTAATGACCCTTG	0.517										HNSCC(32;0.087)			6	70					0	0	0	0	G	131792719	A	G	131792719	3	3	87	1	0	0	0	0	1	0	0	0	300	362	13	5	86	5	ADCY8	8	131792719	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	7525098	131792719	14571303	236	16774											
SLC45A4	57210	broad.mit.edu	37	chr8	142229061	142229061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctggttctgggtccggaaCcagctgcccaggaaggtctg	7	8	14	12	1	2	0	0	0	2	0	3	2	3	2	4	5	3	2	4	5	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:142229061C>A	ENST00000519067.1	-	4	828	c.525G>T	c.(523-525)tgG>tgT	p.W175C	SLC45A4_ENST00000517878.1_Missense_Mutation_p.W226C|SLC45A4_ENST00000024061.3_Missense_Mutation_p.W175C|SLC45A4_ENST00000433583.2_Missense_Mutation_p.W168C			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	226					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGTCCGGAACCAGCTGCCCA	0.652													9	97					2.74318e-10	3.01503e-10	1	0	A	142229061	C	A	142229061	3	1	87	1	0	0	0	0	1	0	0	0	14731	508	18	4	1891	4	SLC45A4	8	142229061	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	10436342	142229061	4134961	237	16775											
TOP1MT	116447	broad.mit.edu	37	chr8	144398271	144398271	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggctcggttgtaggataaGatcttagctgctatgctgtc	7	15	12	7	1	1	1	0	0	1	1	3	2	1	2	0	3	3	6	0	3	4	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:144398271G>C	ENST00000523676.1	-	12	1467	c.1062C>G	c.(1060-1062)atC>atG	p.I354M	TOP1MT_ENST00000521193.1_Missense_Mutation_p.I354M|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I354M|TOP1MT_ENST00000329245.4_Missense_Mutation_p.I452M			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	452					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGTAGGATAAGATCTTAGCTG	0.602													6	77					0	0	0	0	C	144398271	G	C	144398271	3	2	87	1	0	0	0	0	1	0	0	0	16459	932	33	2	465	2	TOP1MT	8	144398271	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2169210	144398271	1965751	238	16776											
MPDZ	8777	broad.mit.edu	37	chr9	13121863	13121863	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagagtgtcaggcgcactctCtgtggcgtctgtctcaggac	6	11	13	11	2	4	1	2	0	3	1	6	2	4	2	0	3	0	1	0	3	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:13121863C>G	ENST00000319217.7	-	38	5353	c.5106G>C	c.(5104-5106)caG>caC	p.Q1702H	MPDZ_ENST00000541718.1_Missense_Mutation_p.Q1702H|MPDZ_ENST00000538841.1_Missense_Mutation_p.Q561H|MPDZ_ENST00000381015.4_Missense_Mutation_p.Q1702H|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000381022.2_Missense_Mutation_p.Q1702H|MPDZ_ENST00000546205.1_Missense_Mutation_p.Q1716H|MPDZ_ENST00000536827.1_Missense_Mutation_p.Q1669H|MPDZ_ENST00000447879.1_Missense_Mutation_p.Q1669H	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1702	PDZ 10.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGCGCACTCTCTGTGGCGTCT	0.498													4	40					0	0	0	0	G	13121863	C	G	13121863	3	3	87	1	0	0	0	0	1	0	0	0	9792	912	32	2	1055	2	MPDZ	9	13121863	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08		13121863	128091568	239	16777											
KLHL9	55958	broad.mit.edu	37	chr9	21333198	21333198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatacaacgattattccaaGaatatccaccaacaacatag	18	8	3	12	1	0	1	0	0	0	1	2	2	2	1	4	0	4	0	4	0	9	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:21333198G>A	ENST00000359039.4	-	1	2181	c.1661C>T	c.(1660-1662)tCt>tTt	p.S554F	KLHL9_ENST00000537938.1_Missense_Mutation_p.S486F			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	554					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATTATTCCAAGAATATCCACC	0.408													8	140					0	0	0	0	A	21333198	G	A	21333198	3	1	87	1	0	0	0	0	1	0	0	0	8448	942	33	2	196	2	KLHL9	9	21333198	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	8211335	21333198	119880233	240	16778											
VCP	7415	broad.mit.edu	37	chr9	35062342	35062342	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccaatttgctcatgatctCaggacctgaaaggatacaga	14	9	9	9	0	2	3	2	2	1	1	3	5	2	5	2	2	3	1	2	2	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:35062342C>G	ENST00000358901.6	-	8	1712	c.817G>C	c.(817-819)Gag>Cag	p.E273Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	273					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCATGATCTCAGGACCTGAA	0.443													5	66					0	0	0	0	G	35062342	C	G	35062342	3	3	87	1	0	0	0	0	1	0	0	0	17236	835	29	2	1643	2	VCP	9	35062342	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	13729144	35062342	106151089	241	16779											
RUSC2	9853	broad.mit.edu	37	chr9	35546558	35546558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactggagagaccctcatcGttcatcacatccccctggtg	8	10	9	14	1	3	2	3	1	0	1	5	4	4	3	3	2	0	1	3	2	0	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:35546558G>A	ENST00000455600.1	+	2	609	c.40G>A	c.(40-42)Gtt>Att	p.V14I	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	14						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GACCCTCATCGTTCATCACAT	0.582													9	118					0	0	0	0	A	35546558	G	A	35546558	3	1	87	1	0	0	0	0	1	0	0	0	13836	1145	40	1	42	1	RUSC2	9	35546558	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	484216	35546558	105666873	242	16780											
TLN1	7094	broad.mit.edu	37	chr9	35716472	35716472	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagttctccagatcacttTccccctcagcatcagccttg	7	11	8	15	0	4	1	3	0	1	1	6	2	5	2	4	1	2	2	4	1	0	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:35716472T>C	ENST00000314888.9	-	20	2893	c.2540A>G	c.(2539-2541)gAa>gGa	p.E847G	TLN1_ENST00000540444.1_Missense_Mutation_p.E847G	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	847					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGATCACTTTCCCCCTCAGC	0.567													6	128					0	0	0	0	C	35716472	T	C	35716472	3	2	87	1	0	0	0	0	1	0	0	0	16041	1783	62	5	5237	5	TLN1	9	35716472	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	169914	35716472	105496959	243	16781											
RECK	8434	broad.mit.edu	37	chr9	36087862	36087862	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcttgaaagctcacaatCtgttcaccctggagtcactg	9	14	7	11	0	5	1	3	1	2	0	5	2	5	2	1	1	1	2	1	1	2	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:36087862C>G	ENST00000377966.3	+	9	1375	c.809C>G	c.(808-810)tCt>tGt	p.S270C		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	270	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AGCTCACAATCTGTTCACCCT	0.458													8	52					0	0	0	0	G	36087862	C	G	36087862	3	3	87	1	0	0	0	0	1	0	0	0	13282	913	32	2	843	2	RECK	9	36087862	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	371390	36087862	105125569	244	16782											
CBWD3	445571	broad.mit.edu	37	chr9	70871839	70871839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatattatatattttcacgtGcagtggcttctatgttttgg	9	19	8	5	1	2	0	1	0	1	0	2	0	2	0	0	2	1	3	0	2	6	10			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:70871839G>A	ENST00000360171.6	+	5	984	c.433G>A	c.(433-435)Gca>Aca	p.A145T	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	145							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		ATTTTCACGTGCAGTGGCTTC	0.284													14	260					0	0	0	0	A	70871839	G	A	70871839	3	1	87	1	0	0	0	0	1	0	0	0	2739	1319	46	4	1699	4	CBWD3	9	70871839	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	34783977	70871839	70341592	245	16783											
ANKS6	203286	broad.mit.edu	37	chr9	101552604	101552604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcgtggttggggtccGcgccccactccatcagtaga	5	8	15	13	3	1	1	1	0	0	1	3	1	3	1	4	4	1	3	4	4	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:101552604G>A	ENST00000353234.4	-	2	691	c.644C>T	c.(643-645)gCg>gTg	p.A215V	ANKS6_ENST00000375018.1_Missense_Mutation_p.A215V|ANKS6_ENST00000540940.1_Missense_Mutation_p.A20V|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000375019.2_Intron			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	215										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTGGGGTCCGCGCCCCACTC	0.692													6	51					0	0	0	0	A	101552604	G	A	101552604	3	1	87	1	0	0	0	0	1	0	0	0	691	1087	38	1	2027	1	ANKS6	9	101552604	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	30680765	101552604	39660827	246	16784											
ZNF462	58499	broad.mit.edu	37	chr9	109690843	109690843	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctgaggactttgtgcaCgacgtagagcagtctgctga	9	9	13	10	3	1	3	0	2	1	1	1	5	1	4	1	1	3	5	1	1	1	2	rs143646728	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:109690843C>T	ENST00000277225.5	+	3	4939	c.4650C>T	c.(4648-4650)caC>caT	p.H1550H	ZNF462_ENST00000457913.1_Silent_p.H1550H|ZNF462_ENST00000441147.2_Silent_p.H395H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1550					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACTTTGTGCACGACGTAGAGC	0.567													5	45					0	0	0	0	T	109690843	C	T	109690843	2	4	87	1	0	0	0	0	0	0	0	1	18021	535	19	1		1	ZNF462	9	109690843	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	8138239	109690843	31522588	247	16785											
SVEP1	79987	broad.mit.edu	37	chr9	113275247	113275247	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggaccacaaaccattgggtAgacataagatgatgctgctt	13	9	10	9	1	0	3	0	1	0	2	0	4	0	4	2	2	3	3	2	2	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:113275247A>G	ENST00000401783.2	-	5	1598	c.1262T>C	c.(1261-1263)cTa>cCa	p.L421P	SVEP1_ENST00000374469.1_Missense_Mutation_p.L398P|SVEP1_ENST00000302728.8_Missense_Mutation_p.L421P|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.L398P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	421	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACCATTGGGTAGACATAAGAT	0.433													9	58					0	0	0	0	G	113275247	A	G	113275247	3	3	87	1	0	0	0	0	1	0	0	0	15510	420	15	5	9629	5	SVEP1	9	113275247	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	3584404	113275247	27938184	248	16786											
UGCG	7357	broad.mit.edu	37	chr9	114676954	114676954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccaggtgtctctcttctGaaaccactgaaaggggtaga	10	10	10	11	0	3	3	0	2	3	1	5	3	4	3	2	3	1	1	2	3	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:114676954G>A	ENST00000374279.3	+	2	618	c.168G>A	c.(166-168)ctG>ctA	p.L56L	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	56					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TCTCTCTTCTGAAACCACTGA	0.368													5	94					0	0	0	0	A	114676954	G	A	114676954	2	1	87	1	0	0	0	0	0	0	0	1	17035	1277	45	2		2	UGCG	9	114676954	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1401707	114676954	26536477	249	16787											
ZNF618	114991	broad.mit.edu	37	chr9	116811382	116811382	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgtgcaccactgggtgcaGaacgtgctgtcggagttcgt	6	11	14	10	3	0	1	0	0	0	1	2	2	0	2	1	2	4	4	1	2	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:116811382G>C	ENST00000288466.7	+	14	1620	c.1521G>C	c.(1519-1521)caG>caC	p.Q507H	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.Q600H	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACTGGGTGCAGAACGTGCTGT	0.602													9	64					0	0	0	0	C	116811382	G	C	116811382	3	2	87	1	0	0	0	0	1	0	0	0	18137	933	33	2	1575	2	ZNF618	9	116811382	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2134428	116811382	24402049	250	16788											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123234044	123234044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttcccgcctccgaatttCgctgatctgctcctccaagg	6	11	7	17	3	1	1	0	1	1	0	6	2	5	1	6	1	1	2	6	1	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:123234044C>T	ENST00000349780.4	-	16	2019	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E614K|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E614K|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E614K	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	614					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|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						CTCCGAATTTCGCTGatctgc	0.463													13	77					0	0	0	0	T	123234044	C	T	123234044	3	4	87	1	0	0	0	0	1	0	0	0	3175	893	31	1	3933	1	CDK5RAP2	9	123234044	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	6422662	123234044	17979387	251	16789											
C9orf117	286207	broad.mit.edu	37	chr9	130474913	130474913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcgtggaaatgggcactGaggttggaatttcctggacg	9	11	14	7	2	0	1	0	1	0	0	2	4	1	4	1	5	0	2	1	5	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:130474913G>A	ENST00000373293.5	+	1	745	c.10G>A	c.(10-12)Gag>Aag	p.E4K	C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373295.2_Intron			Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	0										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AATGGGCACTGAGGTTGGAAT	0.567													5	17					0	0	0	0	A	130474913	G	A	130474913	3	1	87	1	0	0	0	0	1	0	0	0	2476	1305	45	2		2	C9orf117	9	130474913	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	7240869	130474913	10738518	252	16790											
UCK1	83549	broad.mit.edu	37	chr9	134401348	134401348	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgcgggatgatcacaTcggcatacttctttgtctgt	6	14	9	12	3	3	1	1	1	2	0	6	2	4	2	1	2	1	1	1	2	1	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:134401348T>C	ENST00000372215.4	-	6	713	c.620A>G	c.(619-621)gAt>gGt	p.D207G	UCK1_ENST00000372211.3_Missense_Mutation_p.D212G|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372210.3_Missense_Mutation_p.D198G|UCK1_ENST00000372208.3_Silent_p.R175R	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	207					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GATGATCACATCGGCATACTT	0.537													7	109					0	0	0	0	C	134401348	T	C	134401348	3	2	87	1	0	0	0	0	1	0	0	0	17019	1435	50	5	221	5	UCK1	9	134401348	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	3926435	134401348	6812083	253	16791											
NOTCH1	4851	broad.mit.edu	37	chr9	139396305	139396305	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcggcatccaggtgctgctGagtccactgccggtggtctg	5	9	15	12	2	1	1	0	1	1	0	3	1	3	1	3	4	4	3	3	4	0	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:139396305G>A	ENST00000277541.6	-	30	5608	c.5533C>T	c.(5533-5535)Cag>Tag	p.Q1845*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1845					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCTGCTGAGTCCACTGC	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			4	43					0	0	0	0	A	139396305	G	A	139396305	4	1	87	1	0	0	0	0	0	1	0	0	10617	1299	45	2	2154	2	NOTCH1	9	139396305	Nonsense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	4994957	139396305	1817126	254	16792											
AGPAT2	10555	broad.mit.edu	37	chr9	139571495	139571495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccggttgatgaagaagacgCccccgaggtacatgatgagg	11	6	15	9	3	0	6	0	4	0	2	0	7	0	6	3	3	1	2	3	3	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:139571495C>T	ENST00000371696.2	-	3	475	c.410G>A	c.(409-411)gGc>gAc	p.G137D	AGPAT2_ENST00000538402.1_Missense_Mutation_p.G137D|AGPAT2_ENST00000371694.3_Missense_Mutation_p.G137D	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	137					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GAAGAAGACGCCCCCGAGGTA	0.657													11	108					0	0	0	0	T	139571495	C	T	139571495	3	4	87	1	0	0	0	0	1	0	0	0	387	739	26	4	442	4	AGPAT2	9	139571495	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	175190	139571495	1641936	255	16793											
FAM166A	401565	broad.mit.edu	37	chr9	140138197	140138197	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cattccttccagtaggccctCcgggtgctgttgccgaatgt	5	12	11	13	2	0	0	0	0	0	0	3	1	3	0	5	2	2	3	5	2	2	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:140138197C>G	ENST00000344774.4	-	7	963	c.909G>C	c.(907-909)cgG>cgC	p.R303R		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	303										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						AGTAGGCCCTCCGGGTGCTGT	0.562													10	186					0	0	0	0	G	140138197	C	G	140138197	2	3	87	1	0	0	0	0	0	0	0	1	5522	842	30	2		2	FAM166A	9	140138197	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	566702	140138197	1075234	256	16794											
ITIH2	3698	broad.mit.edu	37	chr10	7765488	7765488	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaaaaacatcctctttgtCatcgatgtgagtggctccat	10	12	7	12	1	2	1	1	1	1	0	5	2	4	1	3	1	1	1	3	1	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:7765488C>T	ENST00000358415.4	+	9	1108	c.942C>T	c.(940-942)gtC>gtT	p.V314V	ITIH2_ENST00000379587.4_Silent_p.V303V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	314	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCCTCTTTGTCATCGATGTGA	0.433													5	76					0	0	0	0	T	7765488	C	T	7765488	2	4	87	1	0	0	0	0	0	0	0	1	7957	813	29	2		2	ITIH2	10	7765488	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08		7765488	127769259	257	16795											
CUBN	8029	broad.mit.edu	37	chr10	16957109	16957109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaaacctgaccacagcagTattgctagaagtgtctatgc	13	9	9	10	0	1	2	0	1	1	1	1	3	1	2	2	0	4	3	2	0	5	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:16957109T>C	ENST00000377833.4	-	47	7338	c.7273A>G	c.(7273-7275)Act>Gct	p.T2425A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2425	CUB 17.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCACAGCAGTATTGCTAGAA	0.428													9	90					0	0	0	0	C	16957109	T	C	16957109	3	2	87	1	0	0	0	0	1	0	0	0	4083	1638	57	5	3682	5	CUBN	10	16957109	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	9191621	16957109	118577638	258	16796											
ZNF438	220929	broad.mit.edu	37	chr10	31137576	31137576	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaccctatgcacttctttCagatggccaaaatagactcg	13	10	6	12	1	2	2	1	0	1	2	3	2	2	2	2	1	2	1	2	1	5	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:31137576C>A	ENST00000538351.1	-	7	2365	c.1611G>T	c.(1609-1611)ctG>ctT	p.L537L	ZNF438_ENST00000444692.2_Silent_p.L576L|ZNF438_ENST00000452305.1_Silent_p.L576L|ZNF438_ENST00000413025.1_Silent_p.L586L|ZNF438_ENST00000361310.3_Silent_p.L586L|ZNF438_ENST00000436087.2_Silent_p.L586L|ZNF438_ENST00000375311.1_Silent_p.L150L|ZNF438_ENST00000331737.6_Silent_p.L576L|ZNF438_ENST00000442986.1_Silent_p.L586L	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GCACTTCTTTCAGATGGCCAA	0.478													12	105					0.000219431	0.00023118	1	0	A	31137576	C	A	31137576	2	1	87	1	0	0	0	0	0	0	0	1	18005	813	29	2		2	ZNF438	10	31137576	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	14180467	31137576	104397171	259	16797											
ZEB1	6935	broad.mit.edu	37	chr10	31816027	31816027	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaggaggaggaggaggaAgaagtggaagaagaagaggt	18	2	21	0	0	0	5	0	0	0	5	0	12	0	11	0	7	0	0	0	7	6	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:31816027A>G	ENST00000446923.2	+	9	3553	c.3162A>G	c.(3160-3162)gaA>gaG	p.E1054E	ZEB1_ENST00000320985.10_Silent_p.E1070E|ZEB1_ENST00000560721.2_Silent_p.E1050E|ZEB1_ENST00000361642.5_Silent_p.E1071E|ZEB1_ENST00000542815.3_Silent_p.E1003E	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1070	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				aggaggaggaagaagtggaag	0.448													3	20					0	0	0	0	G	31816027	A	G	31816027	2	3	87	1	0	0	0	0	0	0	0	1	17718	69	3	5		5	ZEB1	10	31816027	Silent	SNP	A	TCGA-CN-5369-01A-01D-1434-08	678451	31816027	103718720	260	16798											
PCDH15	65217	broad.mit.edu	37	chr10	55566511	55566511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttccttagtggcttcaccGctgtattgtcagtccccaca	6	14	8	13	1	2	0	2	0	0	0	4	0	4	0	4	1	0	4	4	1	2	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:55566511G>A	ENST00000373965.2	-	36	5277	c.4883C>T	c.(4882-4884)gCg>gTg	p.A1628V	PCDH15_ENST00000414778.1_Missense_Mutation_p.A1625V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCTTCACCGCTGTATTGTC	0.448										HNSCC(58;0.16)			18	255					0	0	0	0	A	55566511	G	A	55566511	3	1	87	1	0	0	0	0	1	0	0	0	11582	1087	38	1	175	1	PCDH15	10	55566511	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	23750484	55566511	79968236	261	16799											
ZMIZ1	57178	broad.mit.edu	37	chr10	81051988	81051988	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgcctgctgacttcactCagcccgcggcagccgctgca	5	6	12	18	4	2	1	2	1	0	0	2	1	2	1	4	2	4	4	4	2	0	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:81051988C>T	ENST00000334512.5	+	11	1404	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	278					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TGACTTCACTCAGCCCgcggc	0.672													13	128					0	0	0	0	T	81051988	C	T	81051988	4	4	87	1	0	0	0	0	0	1	0	0	17791	827	29	2	858	2	ZMIZ1	10	81051988	Nonsense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	25485477	81051988	54482759	262	16800											
ZDHHC16	84287	broad.mit.edu	37	chr10	99215505	99215507	+	In_Frame_Del	DEL	AAG	AAG	-																															gcatcgaaaggcacatcaacAagaaggagagacgtcggcta																								rs146287872	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:99215505_99215507delAAG	ENST00000393760.1	+	10	1262_1264	c.913_915delAAG	c.(913-915)del	p.K306del	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000352634.4_In_Frame_Del_p.K290del|ZDHHC16_ENST00000345745.5_In_Frame_Del_p.K225del|ZDHHC16_ENST00000370842.2_In_Frame_Del_p.K290del|ZDHHC16_ENST00000370854.3_In_Frame_Del_p.K306del|ZDHHC16_ENST00000353979.3_In_Frame_Del_p.K267del|ZDHHC16_ENST00000370846.4_In_Frame_Del_p.K236del	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	306					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GCACATCAACAAGAAGGAGAGAC	0.532													11	136	---	---	---	---					-	99215507	AAG	-	99215505	7	5	87	1	0	1	0	1	0	0	0	0	17701	131	5	0	943	0	ZDHHC16	10	99215505	In_Frame_Del	DEL	AAG	TCGA-CN-5369-01A-01D-1434-08	18163517	99215505	36319242	263	16801											
DNMBP	23268	broad.mit.edu	37	chr10	101715777	101715777	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttgactacccttgaagctGaaacagaagagcccctgtaa	13	9	9	10	0	0	5	0	3	0	2	0	5	0	5	3	0	4	3	3	0	5	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:101715777G>C	ENST00000342239.3	-	4	1545	c.1454C>G	c.(1453-1455)tCa>tGa	p.S485*	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Nonsense_Mutation_p.S485*			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	485					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCTTGAAGCTGAAACAGAAGA	0.463													7	117					0	0	0	0	C	101715777	G	C	101715777	4	2	87	1	0	0	0	0	0	1	0	0	4710	1294	45	2	3335	2	DNMBP	10	101715777	Nonsense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2500272	101715777	33818970	264	16802											
PDCD11	22984	broad.mit.edu	37	chr10	105172995	105172995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccagaaccttggagcagtGctggatgatgttcctgtcca	8	11	12	10	0	0	2	0	1	0	1	2	4	2	4	4	2	4	3	4	2	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:105172995G>A	ENST00000369797.3	+	9	1195	c.1101G>A	c.(1099-1101)gtG>gtA	p.V367V		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	367	S1 motif 4.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGGAGCAGTGCTGGATGATG	0.572													9	63					0	0	0	0	A	105172995	G	A	105172995	2	1	87	1	0	0	0	0	0	0	0	1	11688	1306	46	4		4	PDCD11	10	105172995	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3457218	105172995	30361752	265	16803											
JAKMIP3	282973	broad.mit.edu	37	chr10	133950586	133950586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttgatcaaagtcaggatGagagagaagtcgatttcttg	13	11	11	6	1	3	3	2	2	1	2	4	7	3	4	1	1	0	0	1	1	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:133950586G>A	ENST00000298622.4	+	6	1318	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AAGTCAGGATGAGAGAGAAGT	0.512													4	48					0	0	0	0	A	133950586	G	A	133950586	3	1	87	1	0	0	0	0	1	0	0	0	7995	1291	45	2	1202	2	JAKMIP3	10	133950586	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	28777591	133950586	1584161	266	16804											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606150	1606150	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttggatcccccacaagaGccacagccccccttggagcc	8	5	8	20	0	0	1	0	0	0	1	1	3	1	3	8	2	3	0	8	2	1	2	rs148824156	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:1606150G>A	ENST00000382171.2	-	1	363	c.330C>T	c.(328-330)ggC>ggT	p.G110G	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	110	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCACAAGAGCCACAGCCCC	0.667													5	48					0	0	0	0	A	1606150	G	A	1606150	2	1	87	1	0	0	0	0	0	0	0	1	8611	958	34	4		4	KRTAP5-1	11	1606150	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08		1606150	133400366	267	16805											
STIM1	6786	broad.mit.edu	37	chr11	4112527	4112527	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggatttgacccattcCgattcggagtcctccctcca	7	11	9	14	2	0	1	0	1	0	0	5	4	4	3	5	2	1	1	5	2	0	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:4112527C>T	ENST00000527651.1	+	13	1683	c.1594C>T	c.(1594-1596)Cga>Tga	p.R532*	STIM1_ENST00000533977.1_Silent_p.S346S|STIM1_ENST00000300737.4_Silent_p.S519S	NM_001277962.1	NP_001264891.1	Q13586	STIM1_HUMAN	stromal interaction molecule 1	532					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGACCCATTCCGATTCGGAGT	0.552													6	107					0	0	0	0	T	4112527	C	T	4112527	4	4	87	1	0	0	0	0	0	1	0	0	15373	639	23	1	1603	1	STIM1	11	4112527	Nonsense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2506377	4112527	130893989	268	16806											
OR52R1	119695	broad.mit.edu	37	chr11	4825751	4825751	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgggtttgattataaactaGaataatttcaactgttttaa	14	18	6	3	0	1	2	1	1	0	1	1	2	1	2	0	1	2	2	0	1	8	9	rs112773148	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:4825751G>C	ENST00000380382.1	-	1	96	c.97C>G	c.(97-99)Cta>Gta	p.L33V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTATAAACTAGAATAATTTCA	0.303													6	72					0	0	0	0	C	4825751	G	C	4825751	3	2	87	1	0	0	0	0	1	0	0	0	11202	957	33	2		2	OR52R1	11	4825751	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	713224	4825751	130180765	269	16807											
OR51B6	390058	broad.mit.edu	37	chr11	5373628	5373628	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcattaaaactaagcagatTcagagtggcatacttcgttt	14	12	8	7	1	1	2	1	0	0	2	2	2	1	2	0	1	4	4	0	1	4	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:5373628T>C	ENST00000380219.1	+	1	891	c.891T>C	c.(889-891)atT>atC	p.I297I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAAGCAGATTCAGAGTGGCA	0.423													9	88					0	0	0	0	C	5373628	T	C	5373628	2	2	87	1	0	0	0	0	0	0	0	1	11163	1771	62	5		5	OR51B6	11	5373628	Silent	SNP	T	TCGA-CN-5369-01A-01D-1434-08	547877	5373628	129632888	270	16808											
UBQLN3	50613	broad.mit.edu	37	chr11	5530434	5530434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggtaaatggagcttggctGagggagtgatccaggacttg	9	10	17	5	0	0	2	0	2	0	0	1	5	1	5	1	5	1	3	1	5	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:5530434G>C	ENST00000311659.4	-	2	502	c.355C>G	c.(355-357)Cag>Gag	p.Q119E	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	119										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCTTGGCTGAGGGAGTGAT	0.607													4	46					0	0	0	0	C	5530434	G	C	5530434	3	2	87	1	0	0	0	0	1	0	0	0	16994	1299	45	2	1616	2	UBQLN3	11	5530434	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	156806	5530434	129476082	271	16809											
CNGA4	1262	broad.mit.edu	37	chr11	6262839	6262839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctggtgctgaagctgcagCcccagacctactcaccaggt	9	7	11	14	0	1	2	1	1	0	1	1	2	1	2	4	2	6	4	4	2	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:6262839C>T	ENST00000379936.2	+	5	1211	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	CNGA4_ENST00000533426.1_Missense_Mutation_p.P135S	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	366					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCTGCAGCCCCAGACCTA	0.562													12	163					0	0	0	0	T	6262839	C	T	6262839	3	4	87	1	0	0	0	0	1	0	0	0	3629	739	26	4	1114	4	CNGA4	11	6262839	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	732405	6262839	128743677	272	16810											
MRPL17	63875	broad.mit.edu	37	chr11	6704001	6704001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccagaagtcagccatgcGcatggctcgttcgttagtgt	8	10	13	10	3	1	1	1	0	0	1	3	2	1	1	2	1	3	4	2	1	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:6704001G>A	ENST00000288937.6	-	2	324	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	74					translation	ribosome	protein domain specific binding|structural constituent of ribosome			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGCCATGCGCATGGCTCGT	0.527													3	32					0	0	0	0	A	6704001	G	A	6704001	3	1	87	1	0	0	0	0	1	0	0	0	9852	1087	38	1	315	1	MRPL17	11	6704001	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	441162	6704001	128302515	273	16811											
ZNF214	7761	broad.mit.edu	37	chr11	7021140	7021140	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaagatgtgaattatgatCaaatcccttataatattcac	15	14	6	6	0	2	4	2	3	0	1	3	4	3	4	1	0	0	0	1	0	7	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:7021140C>G	ENST00000278314.4	-	3	2089	c.1774G>C	c.(1774-1776)Gat>Cat	p.D592H	ZNF214_ENST00000536068.1_Missense_Mutation_p.D592H	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GAATTATGATCAAATCCCTTA	0.333													9	56					0	0	0	0	G	7021140	C	G	7021140	3	3	87	1	0	0	0	0	1	0	0	0	17865	826	29	2	50	2	ZNF214	11	7021140	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	317139	7021140	127985376	274	16812											
NLRP14	338323	broad.mit.edu	37	chr11	7064475	7064475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttacctgctatatttctagCttgttcacaccagtagatgg	9	16	7	9	0	2	1	1	0	1	1	2	1	2	1	2	1	3	4	2	1	5	9			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:7064475C>T	ENST00000299481.4	+	4	1564	c.1218C>T	c.(1216-1218)agC>agT	p.S406S		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	406	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATATTTCTAGCTTGTTCACAC	0.493													13	157					0	0	0	0	T	7064475	C	T	7064475	2	4	87	1	0	0	0	0	0	0	0	1	10546	796	28	4		4	NLRP14	11	7064475	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	43335	7064475	127942041	275	16813											
KCNJ11	3767	broad.mit.edu	37	chr11	17408585	17408585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcttccagtaggctgtggtCctcatcaagctggcgggccg	6	9	14	12	2	2	0	2	0	0	0	4	0	4	0	3	4	2	4	3	4	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:17408585C>T	ENST00000339994.4	-	1	1621	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	KCNJ11_ENST00000528731.1_Missense_Mutation_p.D265N	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	265						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		AGGCTGTGGTCCTCATCAAGC	0.622											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	79					0	0	0	0	T	17408585	C	T	17408585	3	4	87	1	0	0	0	0	1	0	0	0	8098	855	30	2	122	2	KCNJ11	11	17408585	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	10344110	17408585	117597931	276	16814											
ARHGAP1	392	broad.mit.edu	37	chr11	46717606	46717606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcagctggttcagagcctCgctggtgtcatccaaggtca	7	11	11	12	1	4	1	4	0	0	1	6	1	5	1	2	3	2	3	2	3	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:46717606C>T	ENST00000311956.4	-	2	149	c.52G>A	c.(52-54)Gag>Aag	p.E18K		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	18					Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TTCAGAGCCTCGCTGGTGTCA	0.562													5	20					0	0	0	0	T	46717606	C	T	46717606	3	4	87	1	0	0	0	0	1	0	0	0	863	893	31	1	1315	1	ARHGAP1	11	46717606	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	29309021	46717606	88288910	277	16815											
GLYAT	10249	broad.mit.edu	37	chr11	58480325	58480325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttggagtagatttggtaaGtattggtatagtgatcaagg	11	15	13	2	0	1	2	1	1	0	1	1	3	1	3	0	4	0	4	0	4	6	8			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:58480325G>A	ENST00000344743.3	-	4	365	c.224C>T	c.(223-225)aCt>aTt	p.T75I	GLYAT_ENST00000278400.3_Missense_Mutation_p.T75I|GLYAT_ENST00000529732.1_Missense_Mutation_p.T75I	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	75					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GATTTGGTAAGTATTGGTATA	0.318													5	85					0	0	0	0	A	58480325	G	A	58480325	3	1	87	1	0	0	0	0	1	0	0	0	6530	1029	36	4	682	4	GLYAT	11	58480325	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	11762719	58480325	76526191	278	16816											
OR4D11	219986	broad.mit.edu	37	chr11	59271520	59271520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctttgtccactccatcGtgcagatctccctgttgctg	4	13	11	13	1	1	1	0	0	1	1	5	1	3	1	3	2	2	4	3	2	0	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:59271520G>A	ENST00000313253.1	+	1	472	c.472G>A	c.(472-474)Gtg>Atg	p.V158M		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CCACTCCATCGTGCAGATCTC	0.547													15	151					0	0	0	0	A	59271520	G	A	59271520	3	1	87	1	0	0	0	0	1	0	0	0	11126	1145	40	1	474	1	OR4D11	11	59271520	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	791195	59271520	75734996	279	16817											
AHNAK	79026	broad.mit.edu	37	chr11	62291421	62291421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagctacatctggcccttCtgcttttaagccagacacac	10	10	6	15	0	2	1	0	0	2	1	2	1	2	1	2	1	4	2	2	1	2	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:62291421C>T	ENST00000378024.4	-	5	10742	c.10468G>A	c.(10468-10470)Gaa>Aaa	p.E3490K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3490					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGCCCTTCTGCTTTTAAG	0.463													7	129					0	0	0	0	T	62291421	C	T	62291421	3	4	87	1	0	0	0	0	1	0	0	0	414	922	32	2	7324	2	AHNAK	11	62291421	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	3019901	62291421	72715095	280	16818											
AHNAK	79026	broad.mit.edu	37	chr11	62301181	62301181	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcgagtggccagcaccttgGagctctggtcctgaagcaga	8	9	13	11	1	1	2	0	1	1	1	3	4	2	3	3	3	3	3	3	3	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:62301181G>C	ENST00000378024.4	-	5	982	c.708C>G	c.(706-708)ctC>ctG	p.L236L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	236					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGCACCTTGGAGCTCTGGTC	0.602													5	98					0	0	0	0	C	62301181	G	C	62301181	2	2	87	1	0	0	0	0	0	0	0	1	414	1161	41	2		2	AHNAK	11	62301181	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	9760	62301181	72705335	281	16819											
RBM4	5936	broad.mit.edu	37	chr11	66411036	66411036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactggtccaaagagtgtccGatagatcgttcaggccgcgt	9	9	12	11	4	1	2	1	0	0	2	4	3	3	2	3	2	0	1	3	2	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:66411036G>A	ENST00000409406.1	+	2	1305	c.528G>A	c.(526-528)ccG>ccA	p.P176P	RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000310092.7_Silent_p.P176P|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000514361.3_Silent_p.P151P|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_Silent_p.P176P|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000408993.2_Silent_p.P176P|RBM14-RBM4_ENST00000412278.2_Silent_p.P151P|RBM4_ENST00000398692.4_Intron					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AAGAGTGTCCGATAGATCGTT	0.572													5	66					0	0	0	0	A	66411036	G	A	66411036	2	1	87	1	0	0	0	0	0	0	0	1	13216	1045	37	1		1	RBM4	11	66411036	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	4109855	66411036	68595480	282	16820											
PC	5091	broad.mit.edu	37	chr11	66638348	66638348	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctgagtaggcccgggtgtAattctcctccagctcctgcg	5	11	11	14	2	2	1	0	1	2	0	5	1	4	1	4	2	2	3	4	2	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:66638348A>G	ENST00000393960.1	-	8	930	c.649T>C	c.(649-651)Tac>Cac	p.Y217H	PC_ENST00000393958.2_Missense_Mutation_p.Y217H|PC_ENST00000524491.1_Missense_Mutation_p.Y177H|PC_ENST00000393955.2_Missense_Mutation_p.Y217H|PC_ENST00000355677.3_Missense_Mutation_p.Y217H	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	217	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCCCGGGTGTAATTCTCCTCC	0.617													10	140					0	0	0	0	G	66638348	A	G	66638348	3	3	87	1	0	0	0	0	1	0	0	0	11568	362	13	5	2951	5	PC	11	66638348	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	227312	66638348	68368168	283	16821											
RHOD	29984	broad.mit.edu	37	chr11	66838947	66838947	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggcgcggtggcctacctCgagtgctcggctcggctcca	3	8	16	14	5	0	0	0	0	0	0	4	1	1	0	3	5	2	3	3	5	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:66838947C>T	ENST00000308831.2	+	5	592	c.507C>T	c.(505-507)ctC>ctT	p.L169L	RHOD_ENST00000532559.1_Silent_p.L103L	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN	ras homolog family member D	169					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						TGGCCTACCTCGAGTGCTCGG	0.687													4	26					0	0	0	0	T	66838947	C	T	66838947	2	4	87	1	0	0	0	0	0	0	0	1	13420	871	31	1		1	RHOD	11	66838947	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	200599	66838947	68167569	284	16822											
PITPNM1	9600	broad.mit.edu	37	chr11	67262398	67262398	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacggctcctcgcattcCgccagctgtggccgctcctt	4	10	11	16	4	0	0	0	0	0	0	4	1	3	1	5	3	1	4	5	3	0	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:67262398C>T	ENST00000356404.3	-	18	2886	c.2661G>A	c.(2659-2661)gcG>gcA	p.A887A	PITPNM1_ENST00000436757.2_Silent_p.A886A|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000534749.1_Silent_p.A887A	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	887					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCTCGCATTCCGCCAGCTGTG	0.677													13	60					0	0	0	0	T	67262398	C	T	67262398	2	4	87	1	0	0	0	0	0	0	0	1	12022	639	23	1		1	PITPNM1	11	67262398	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	423451	67262398	67744118	285	16823											
PITPNM1	9600	broad.mit.edu	37	chr11	67269818	67269818	+	Frame_Shift_Del	DEL	C	C	-																															ttgaagacgtttggctgctgCcccccatcaggcaggtaata																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:67269818delC	ENST00000356404.3	-	4	585	c.360delG	c.(358-360)ggfs	p.G120fs	PITPNM1_ENST00000436757.2_Frame_Shift_Del_p.G120fs|PITPNM1_ENST00000534749.1_Frame_Shift_Del_p.G120fs	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	120					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TTGGCTGCTGCCCCCCATCAG	0.607													7	71	---	---	---	---					-	67269818	C	-	67269818	7	5	87	1	0	1	0	1	0	0	0	0	12022	726	26	0	3458	0	PITPNM1	11	67269818	Frame_Shift_Del	DEL	C	TCGA-CN-5369-01A-01D-1434-08	7420	67269818	67736698	286	16824											
CPT1A	1374	broad.mit.edu	37	chr11	68549278	68549278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagtagagatttggcgtagCtgtccattgacgtatccggg	8	12	14	7	3	0	2	0	1	0	1	2	3	2	2	2	2	1	5	2	2	4	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:68549278C>T	ENST00000265641.5	-	11	1467	c.1313G>A	c.(1312-1314)aGc>aAc	p.S438N	CPT1A_ENST00000376618.2_Missense_Mutation_p.S438N|CPT1A_ENST00000540367.1_Missense_Mutation_p.S438N|CPT1A_ENST00000539743.1_Missense_Mutation_p.S438N	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	438					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TTTGGCGTAGCTGTCCATTGA	0.478													9	182					0	0	0	0	T	68549278	C	T	68549278	3	4	87	1	0	0	0	0	1	0	0	0	3861	797	28	4	1084	4	CPT1A	11	68549278	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1279460	68549278	66457238	287	16825											
IGHMBP2	3508	broad.mit.edu	37	chr11	68704242	68704242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaaatagccgaggagcAcgggctgaggcacgacagtt	12	4	13	12	3	0	1	0	1	0	0	0	4	0	2	3	3	2	4	3	3	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:68704242A>G	ENST00000255078.3	+	13	2405	c.2294A>G	c.(2293-2295)cAc>cGc	p.H765R		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	765	R3H.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCGAGGAGCACGGGCTGAGG	0.612													4	47					0	0	0	0	G	68704242	A	G	68704242	3	3	87	1	0	0	0	0	1	0	0	0	7644	159	6	5	2344	5	IGHMBP2	11	68704242	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	154964	68704242	66302274	288	16826											
TPCN2	219931	broad.mit.edu	37	chr11	68846367	68846367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcccctttcagattctcaActgcgtcttcattgtgtact	6	16	6	13	1	4	1	3	0	2	1	5	1	4	1	2	0	4	1	2	0	2	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:68846367A>G	ENST00000294309.3	+	16	1519	c.1418A>G	c.(1417-1419)aAc>aGc	p.N473S	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.N473S	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	473					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAGATTCTCAACTGCGTCTTC	0.597													4	65					0	0	0	0	G	68846367	A	G	68846367	3	3	87	1	0	0	0	0	1	0	0	0	16491	43	2	5	1480	5	TPCN2	11	68846367	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	142125	68846367	66160149	289	16827											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249137	71249137	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctggaggctgtggctcCggctgtgggggctgcggctc	1	10	19	11	2	1	0	0	0	1	0	3	1	2	1	1	7	2	6	1	7	0	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:71249137C>T	ENST00000398534.3	+	1	67	c.36C>T	c.(34-36)tcC>tcT	p.S12S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	12						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCTGTGGCTCCGGCTGTGGGG	0.647													16	132					0	0	0	0	T	71249137	C	T	71249137	2	4	87	1	0	0	0	0	0	0	0	1	8620	639	23	1		1	KRTAP5-8	11	71249137	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2402770	71249137	63757379	290	16828											
SERPINH1	871	broad.mit.edu	37	chr11	75282867	75282867	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgactgaggccattgacaaGaacaaggccgacttgtcacg	12	7	11	11	2	1	4	1	3	0	1	1	5	1	4	2	2	1	0	2	2	3	2	rs147936395		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:75282867G>A	ENST00000524558.1	+	5	2431	c.996G>A	c.(994-996)aaG>aaA	p.K332K	SERPINH1_ENST00000525876.1_Silent_p.K115K|SERPINH1_ENST00000533603.1_Silent_p.K332K|SERPINH1_ENST00000358171.3_Silent_p.K332K			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	332					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CCATTGACAAGAACAAGGCCG	0.602													5	37					0	0	0	0	A	75282867	G	A	75282867	2	1	87	1	0	0	0	0	0	0	0	1	14204	933	33	2		2	SERPINH1	11	75282867	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	4033730	75282867	59723649	291	16829											
MOGAT2	80168	broad.mit.edu	37	chr11	75431143	75431143	+	Frame_Shift_Del	DEL	G	G	-																															gaccgagacaagccacggcaGgggggccggcacatccaggc																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:75431143delG	ENST00000198801.5	+	2	268	c.198delG	c.(196-198)cafs	p.Q66fs	MOGAT2_ENST00000526712.1_5'UTR	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	66					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AGCCACGGCAGGGGGGCCGGC	0.562													26	185	---	---	---	---					-	75431143	G	-	75431143	7	5	87	1	0	1	0	1	0	0	0	0	9765	991	35	0	204	0	MOGAT2	11	75431143	Frame_Shift_Del	DEL	G	TCGA-CN-5369-01A-01D-1434-08	148276	75431143	59575373	292	16830											
FOLH1B	219595	broad.mit.edu	37	chr11	89431786	89431786	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaggattctttagagactCtgtattgaatttgtgtggta	11	16	11	3	0	2	3	0	1	2	2	2	5	2	4	0	2	0	2	0	2	5	7			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:89431786C>G	ENST00000532352.1	+	0	2068							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTAGAGACTCTGTATTGAAT	0.343													9	55					0	0	0	0	G	89431786	C	G	89431786	1	3	87	0	1	0	0	0	0	0	0	0	6025	928	32	2		2	FOLH1B	11	89431786	RNA	SNP	C	TCGA-CN-5369-01A-01D-1434-08	14000643	89431786	45574730	293	16831											
FAT3	120114	broad.mit.edu	37	chr11	92086794	92086794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggataaaggagaaaatgggTacatcacctatagtatcgct	16	9	10	6	1	1	1	1	0	0	1	2	3	1	2	1	3	1	3	1	3	8	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:92086794T>C	ENST00000298047.6	+	1	1533	c.1516T>C	c.(1516-1518)Tac>Cac	p.Y506H	FAT3_ENST00000541502.1_Missense_Mutation_p.Y506H|FAT3_ENST00000525166.1_Missense_Mutation_p.Y356H|FAT3_ENST00000409404.2_Missense_Mutation_p.Y506H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	506	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAAAATGGGTACATCACCTA	0.393										TCGA Ovarian(4;0.039)			7	110					0	0	0	0	C	92086794	T	C	92086794	3	2	87	1	0	0	0	0	1	0	0	0	5736	1638	57	5	1518	5	FAT3	11	92086794	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	2655008	92086794	42919722	294	16832											
FAT3	120114	broad.mit.edu	37	chr11	92533399	92533399	+	Frame_Shift_Del	DEL	C	C	-																															gtcatatgtgagtgaattagCcccccggggccattttgtaa																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:92533399delC	ENST00000298047.6	+	9	7237	c.7220delC	c.(7219-7221)gcfs	p.A2407fs	FAT3_ENST00000525166.1_Frame_Shift_Del_p.A2257fs|FAT3_ENST00000409404.2_Frame_Shift_Del_p.A2407fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2407	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGAATTAGCCCCCCGGGGC	0.443										TCGA Ovarian(4;0.039)			7	133	---	---	---	---					-	92533399	C	-	92533399	7	5	87	1	0	1	0	1	0	0	0	0	5736	739	26	0	7254	0	FAT3	11	92533399	Frame_Shift_Del	DEL	C	TCGA-CN-5369-01A-01D-1434-08	446605	92533399	42473117	295	16833											
MTNR1B	4544	broad.mit.edu	37	chr11	92715107	92715107	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaagccagagagcaggCtgtgcctgaagcccagcgac	12	3	13	13	1	0	2	0	1	0	1	0	4	0	2	4	1	6	2	4	1	3	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:92715107C>T	ENST00000257068.2	+	2	724	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	240					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AGAGAGCAGGCTGTGCCTGAA	0.577													10	71					0	0	0	0	T	92715107	C	T	92715107	2	4	87	1	0	0	0	0	0	0	0	1	10022	796	28	4		4	MTNR1B	11	92715107	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	181708	92715107	42291409	296	16834											
GPR83	10888	broad.mit.edu	37	chr11	94113678	94113678	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttgagggggaaccagcaGagggcaaagaggactaccac	14	3	15	9	0	0	3	0	1	0	2	0	5	0	5	2	4	3	3	2	4	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:94113678G>C	ENST00000243673.2	-	4	1080	c.909C>G	c.(907-909)ctC>ctG	p.L303L	GPR83_ENST00000539203.2_Silent_p.L261L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	303						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGAACCAGCAGAGGGCAAAGA	0.527													9	96					0	0	0	0	C	94113678	G	C	94113678	2	2	87	1	0	0	0	0	0	0	0	1	6762	929	33	2		2	GPR83	11	94113678	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1398571	94113678	40892838	297	16835											
TRPC6	7225	broad.mit.edu	37	chr11	101362286	101362287	+	Splice_Site	INS	-	-	T																															ggcttcacgcctgaccttacINStttttttacttcatatttaa																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:101362286_101362287insT	ENST00000344327.3	-	3	1552_1553		c.e3+1		TRPC6_ENST00000360497.4_Splice_Site|TRPC6_ENST00000532133.1_Splice_Site|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6						axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCTGACCTTACTTTTTTTACTT	0.396													14	177	---	---	---	---					T	101362287	-	T	101362286	8	5	87	1	0	1	1	0	0	0	1	0	16678	579	20	0	1710	0	TRPC6	11	101362286	Splice_Site	INS	-	TCGA-CN-5369-01A-01D-1434-08	7248608	101362286	33644230	298	16836											
PDGFD	80310	broad.mit.edu	37	chr11	103814225	103814225	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctcgataccgaggggTgtccagatacatattctcaa	10	10	9	12	2	1	1	1	0	1	1	4	3	2	1	4	2	3	0	4	2	4	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:103814225T>A	ENST00000302251.5	-	5	1160	c.709A>T	c.(709-711)Acc>Tcc	p.T237S	PDGFD_ENST00000393158.2_Missense_Mutation_p.T243S	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	243					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TACCGAGGGGTGTCCAGATAC	0.408													5	36					0	0	0	0	A	103814225	T	A	103814225	3	1	87	1	0	0	0	0	1	0	0	0	11731	1696	59	5	397	5	PDGFD	11	103814225	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	2451939	103814225	31192291	299	16837											
PDGFD	80310	broad.mit.edu	37	chr11	103814353	103814353	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatcagagtgggatccgttActgatggagagttataggat	12	11	13	5	1	1	3	1	1	0	2	2	6	2	5	1	3	1	2	1	3	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:103814353A>G	ENST00000302251.5	-	5	1032	c.581T>C	c.(580-582)gTa>gCa	p.V194A	PDGFD_ENST00000393158.2_Missense_Mutation_p.V200A	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	200					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GGGATCCGTTACTGATGGAGA	0.418													5	23					0	0	0	0	G	103814353	A	G	103814353	3	3	87	1	0	0	0	0	1	0	0	0	11731	391	14	5	525	5	PDGFD	11	103814353	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	128	103814353	31192163	300	16838											
AASDHPPT	60496	broad.mit.edu	37	chr11	105962080	105962080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cataaaagccattggtgttgGactaggatttgaattgcagc	12	12	11	6	0	0	1	0	1	0	0	0	3	0	3	1	3	3	2	1	3	4	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:105962080G>A	ENST00000278618.4	+	4	791	c.569G>A	c.(568-570)gGa>gAa	p.G190E	RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	190					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		ATTGGTGTTGGACTAGGATTT	0.353													14	114					0	0	0	0	A	105962080	G	A	105962080	3	1	87	1	0	0	0	0	1	0	0	0	23	1174	41	2	583	2	AASDHPPT	11	105962080	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2147727	105962080	29044436	301	16839											
EXPH5	23086	broad.mit.edu	37	chr11	108384641	108384641	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccataaccagaagaaaatgaTtcccagtgttcagaagaaac	18	7	7	9	0	1	5	1	1	0	4	2	5	2	5	3	0	2	1	3	0	6	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:108384641T>A	ENST00000265843.4	-	6	1703	c.1593A>T	c.(1591-1593)gaA>gaT	p.E531D	EXPH5_ENST00000525344.1_Missense_Mutation_p.E524D|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.E455D|EXPH5_ENST00000443411.1_Missense_Mutation_p.E343D	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	531					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGAAAATGATTCCCAGTGTT	0.413													11	84					0	0	0	0	A	108384641	T	A	108384641	3	1	87	1	0	0	0	0	1	0	0	0	5360	1490	52	5	4380	5	EXPH5	11	108384641	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	2422561	108384641	26621875	302	16840											
NCAM1	4684	broad.mit.edu	37	chr11	113111552	113111552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttccattgtctccaccaGatagtgagtatcattttctt	8	17	6	10	0	3	2	1	1	2	1	5	2	4	2	3	0	0	2	3	0	2	7			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:113111552G>A	ENST00000401611.2	+	16	1882	c.1882G>A	c.(1882-1884)Gat>Aat	p.D628N	NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000533760.1_Intron			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	353	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GTCTCCACCAGATAGTGAGTA	0.443													11	148					0	0	0	0	A	113111552	G	A	113111552	3	1	87	1	0	0	0	0	1	0	0	0	10272	942	33	2	1948	2	NCAM1	11	113111552	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	4726911	113111552	21894964	303	16841											
SIK3	23387	broad.mit.edu	37	chr11	116730111	116730111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgatggagatgccgcGcccactggagcctgcagctg	6	6	17	12	2	0	2	0	1	0	1	0	4	0	3	3	4	4	3	3	4	0	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:116730111G>A	ENST00000375300.1	-	19	2496	c.2491C>T	c.(2491-2493)Cgc>Tgc	p.R831C	SIK3_ENST00000446921.2_Missense_Mutation_p.R831C|SIK3_ENST00000434315.2_Missense_Mutation_p.R672C|SIK3_ENST00000375288.1_Missense_Mutation_p.R168C|SIK3_ENST00000292055.4_Missense_Mutation_p.R773C|SIK3_ENST00000542607.1_Missense_Mutation_p.R773C|SIK3_ENST00000488337.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	773	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAGATGCCGCGCCCACTGGAG	0.597											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	47					0	0	0	0	A	116730111	G	A	116730111	3	1	87	1	0	0	0	0	1	0	0	0	14407	1087	38	1	1494	1	SIK3	11	116730111	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3618559	116730111	18276405	304	16842											
TTC36	143941	broad.mit.edu	37	chr11	118398294	118398294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattgttggattggacctcGgagaggaagcagaaaaggaa	15	7	14	5	1	0	2	0	0	0	2	1	7	0	6	1	5	1	2	1	5	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:118398294G>A	ENST00000302783.4	+	1	108	c.85G>A	c.(85-87)Gga>Aga	p.G29R	RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TTC36_ENST00000539546.1_5'UTR|RP11-770J1.3_ENST00000554407.1_RNA	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	29							binding			lung(2)	2						ATTGGACCTCGGAGAGGAAGC	0.537													13	205					0	0	0	0	A	118398294	G	A	118398294	3	1	87	1	0	0	0	0	1	0	0	0	16800	1117	39	1	87	1	TTC36	11	118398294	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1668183	118398294	16608222	305	16843											
FOXM1	2305	broad.mit.edu	37	chr12	2968088	2968088	+	Frame_Shift_Del	DEL	G	G	-																															gagcctttgcggtgattcaaGggggggagcactttgcaagg																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:2968088delG	ENST00000342628.2	-	10	2235	c.2122delC	c.(2122-2124)ttfs	p.L708fs	FOXM1_ENST00000359843.3_Frame_Shift_Del_p.L670fs|FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L655fs|ITFG2_ENST00000545509.1_Intron	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	670					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGTGATTCAAGGGGGGGAGCA	0.577													7	63	---	---	---	---					-	2968088	G	-	2968088	7	5	87	1	0	1	0	1	0	0	0	0	6065	1000	35	0	287	0	FOXM1	12	2968088	Frame_Shift_Del	DEL	G	TCGA-CN-5369-01A-01D-1434-08		2968088	130883807	306	16844											
LAG3	3902	broad.mit.edu	37	chr12	6886563	6886563	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagtttctcaggaccttgGctggaggcacaggaggccca	9	7	15	10	0	1	0	1	0	1	0	2	4	1	4	2	7	0	3	2	7	0	2	rs61731925		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:6886563G>A	ENST00000203629.2	+	6	1524	c.1191G>A	c.(1189-1191)tgG>tgA	p.W397*		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	397	Ig-like C2-type 3.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGGACCTTGGCTGGAGGCAC	0.572													9	76					0	0	0	0	A	6886563	G	A	6886563	4	1	87	1	0	0	0	0	0	1	0	0	8653	1212	42	4	1213	4	LAG3	12	6886563	Nonsense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3918475	6886563	126965332	307	16845											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	RNA	INS	-	-	C																															acaagatcggaggccgtagtINSttattgtggtgctggaaggg																								rs36063533		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													5	10	---	---	---	---					C	7080213	-	C	7080212	6	5	87	0	1	1	1	0	0	0	0	0	5128	1722	60	0		0	EMG1	12	7080212	RNA	INS	-	TCGA-CN-5369-01A-01D-1434-08	193649	7080212	126771683	308	16846											
FAM90A1	55138	broad.mit.edu	37	chr12	8374654	8374654	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagaggctgggccccatCatggctggccgctgggtgat	5	9	16	11	1	2	2	1	2	1	1	2	3	2	2	3	5	0	3	3	5	0	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:8374654C>A	ENST00000538603.1	-	7	1717	c.1159G>T	c.(1159-1161)Gat>Tat	p.D387Y	FAM90A1_ENST00000307435.6_Missense_Mutation_p.D387Y	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	387							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGGGCCCCATCATGGCTGGCC	0.652													4	40					0.150653	0.151149	1	0	A	8374654	C	A	8374654	3	1	87	1	0	0	0	0	1	0	0	0	5695	826	29	2	239	2	FAM90A1	12	8374654	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1294442	8374654	125477241	309	16847											
PRH2	5555	broad.mit.edu	37	chr12	11083308	11083308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgaggagcgtcagggaccaCctttgggaggacagcaatct	11	7	14	9	1	2	1	1	1	1	0	2	5	2	5	2	4	2	1	2	4	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:11083308C>A	ENST00000396400.3	+	3	186	c.148C>A	c.(148-150)Cct>Act	p.P50T	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.P50T	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	50						extracellular space	protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						TCAGGGACCACCTTTGGGAGG	0.547													12	175					6.40141e-05	6.81477e-05	1	0	A	11083308	C	A	11083308	3	1	87	1	0	0	0	0	1	0	0	0	12563	507	18	4	158	4	PRH2	12	11083308	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2708654	11083308	122768587	310	16848											
TAS2R46	259292	broad.mit.edu	37	chr12	11214111	11214111	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaatagcttcgcagaacatGaagacaggtttgttttccag	12	11	10	8	1	0	3	0	1	0	2	2	3	1	3	1	1	2	5	1	1	4	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:11214111G>A	ENST00000533467.1	-	1	782	c.783C>T	c.(781-783)ttC>ttT	p.F261F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	261					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CGCAGAACATGAAGACAGGTT	0.408													18	259					0	0	0	0	A	11214111	G	A	11214111	2	1	87	1	0	0	0	0	0	0	0	1	15673	1281	45	2		2	TAS2R46	12	11214111	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	130803	11214111	122637784	311	16849											
TAS2R46	259292	broad.mit.edu	37	chr12	11214216	11214216	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggtcacagtttgcaaagcTtttatgtggaccttcatgct	9	14	10	8	0	2	0	2	0	0	0	2	2	2	1	1	2	3	4	1	2	2	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:11214216T>G	ENST00000533467.1	-	1	677	c.678A>C	c.(676-678)aaA>aaC	p.K226N	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	226					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTTGCAAAGCTTTTATGTGGA	0.403													26	229					0	0	0	0	G	11214216	T	G	11214216	3	3	87	1	0	0	0	0	1	0	0	0	15673	1606	56	5	255	5	TAS2R46	12	11214216	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	105	11214216	122637679	312	16850											
PIK3C2G	5288	broad.mit.edu	37	chr12	18435201	18435202	+	Frame_Shift_Ins	INS	-	-	T																															gtgaaattgatgaaaacaccINSttttttgtgcccactgcacc																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:18435201_18435202insT	ENST00000433979.1	+	2	302_303	c.186_187insT	c.(184-189)acttttfs	p.TF62fs	PIK3C2G_ENST00000266497.5_Frame_Shift_Ins_p.TF62fs|PIK3C2G_ENST00000535651.1_Frame_Shift_Ins_p.TF62fs|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Frame_Shift_Ins_p.TF62fs	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	62					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATGAAAACACCTTTTTTGTGCC	0.406													11	75	---	---	---	---					T	18435202	-	T	18435201	7	5	87	1	0	1	1	0	0	0	0	0	11983	668	24	0	188	0	PIK3C2G	12	18435201	Frame_Shift_Ins	INS	-	TCGA-CN-5369-01A-01D-1434-08	7220985	18435201	115416694	313	16851											
KRAS	3845	broad.mit.edu	37	chr12	25368473	25368473	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggatctccctcaccaatgTataaaaagcatcctccactc	12	10	4	15	1	2	0	1	0	1	0	7	1	4	1	4	1	1	2	4	1	5	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:25368473T>C	ENST00000256078.4	-	5	535	c.472A>G	c.(472-474)Aca>Gca	p.T158A	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	158					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTCACCAATGTATAAAAAGCA	0.353		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	83					0	0	0	0	C	25368473	T	C	25368473	3	2	87	1	0	0	0	0	1	0	0	0	8490	1638	57	5	222	5	KRAS	12	25368473	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	6933272	25368473	108483422	314	16852											
MED21	9412	broad.mit.edu	37	chr12	27181336	27181337	+	Frame_Shift_Del	DEL	CA	CA	-																															aagcgcacttgctgatattgCacagtcacagctgaagacaa																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:27181336_27181337delCA	ENST00000282892.3	+	4	407_408	c.377_378delCA	c.(376-378)gfs	p.A126fs	MED21_ENST00000536503.1_3'UTR|MED21_ENST00000546323.1_Frame_Shift_Del_p.A126fs	NM_001271811.1|NM_004264.3	NP_001258740.1|NP_004255.2	Q13503	MED21_HUMAN	mediator complex subunit 21	126					positive regulation of transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|transcription coactivator activity					Colorectal(261;0.0847)					GCTGATATTGCACAGTCACAGC	0.45													11	116	---	---	---	---					-	27181337	CA	-	27181336	7	5	87	1	0	1	0	1	0	0	0	0	9508	710	25	0	391	0	MED21	12	27181336	Frame_Shift_Del	DEL	CA	TCGA-CN-5369-01A-01D-1434-08	1812863	27181336	106670559	315	16853											
KIF21A	55605	broad.mit.edu	37	chr12	39735313	39735313	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagggcaagtacctttttCatctgattcagaatctgatt	12	14	7	8	0	4	3	2	2	2	1	4	3	4	3	1	1	1	2	1	1	4	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:39735313C>G	ENST00000395670.3	-	14	2334	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q	KIF21A_ENST00000361961.3_Missense_Mutation_p.E626Q|KIF21A_ENST00000361418.5_Missense_Mutation_p.E639Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.E626Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.E626Q			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	639					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTACCTTTTTCATCTGATTCA	0.383													11	56					0	0	0	0	G	39735313	C	G	39735313	3	3	87	1	0	0	0	0	1	0	0	0	8339	835	29	2	3209	2	KIF21A	12	39735313	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	12553977	39735313	94116582	316	16854											
ADCY6	112	broad.mit.edu	37	chr12	49169205	49169205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactcatccacctcatcctCagggttcagggcatcttggg	8	10	10	13	0	5	0	4	0	1	0	7	1	7	0	3	3	1	2	3	3	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:49169205C>T	ENST00000307885.4	-	10	2555	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	ADCY6_ENST00000550422.1_Missense_Mutation_p.E621K|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Missense_Mutation_p.E621K	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	621					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCTCATCCTCAGGGTTCAGG	0.567													8	62					0	0	0	0	T	49169205	C	T	49169205	3	4	87	1	0	0	0	0	1	0	0	0	298	835	29	2	1693	2	ADCY6	12	49169205	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	9433892	49169205	84682690	317	16855											
CCDC65	85478	broad.mit.edu	37	chr12	49312494	49312494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataactatttcaaaaggcaaGatcatgatacacagccgtga	17	9	7	8	1	2	3	2	2	0	1	2	3	2	3	1	1	3	1	1	1	6	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:49312494G>C	ENST00000266984.5	+	6	1061	c.834G>C	c.(832-834)aaG>aaC	p.K278N	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.K278N			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	278										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						CAAAAGGCAAGATCATGATAC	0.433													5	68					0	0	0	0	C	49312494	G	C	49312494	3	2	87	1	0	0	0	0	1	0	0	0	2864	933	33	2	856	2	CCDC65	12	49312494	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	143289	49312494	84539401	318	16856											
CCDC65	85478	broad.mit.edu	37	chr12	49312668	49312668	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgccaccctcaaggccctGagaaagattgttgataaggt	13	9	10	9	0	1	3	1	2	0	2	1	4	1	3	3	2	1	1	3	2	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:49312668G>C	ENST00000266984.5	+	6	1235	c.1008G>C	c.(1006-1008)ctG>ctC	p.L336L	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.L336L			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	336										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCAAGGCCCTGAGAAAGATTG	0.488													7	43					0	0	0	0	C	49312668	G	C	49312668	2	2	87	1	0	0	0	0	0	0	0	1	2864	1277	45	2		2	CCDC65	12	49312668	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	174	49312668	84539227	319	16857											
DAZAP2	9802	broad.mit.edu	37	chr12	51634709	51634709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtccccaccatgtcaGccgcatttcctggagcctct	7	9	7	18	1	2	0	1	0	1	0	4	1	4	1	7	1	2	1	7	1	0	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:51634709G>A	ENST00000412716.3	+	3	803	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	DAZAP2_ENST00000604900.1_Missense_Mutation_p.A63T|DAZAP2_ENST00000439799.2_Intron|DAZAP2_ENST00000449723.3_Missense_Mutation_p.A63T|DAZAP2_ENST00000425012.2_Missense_Mutation_p.A63T|DAZAP2_ENST00000551313.1_Missense_Mutation_p.A3T|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000549555.1_Missense_Mutation_p.A63T|DAZAP2_ENST00000549732.2_Intron			Q15038	DAZP2_HUMAN	DAZ associated protein 2	63	Pro-rich.						WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CACCATGTCAGCCGCATTTCC	0.532													5	92					0	0	0	0	A	51634709	G	A	51634709	3	1	87	1	0	0	0	0	1	0	0	0	4278	971	34	4	197	4	DAZAP2	12	51634709	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2322041	51634709	82217186	320	16858											
KRT75	9119	broad.mit.edu	37	chr12	52824378	52824378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcggttggcaatgtcctCgtattgtgctttgacctcgg	4	14	13	10	3	0	1	0	1	0	0	3	1	1	1	2	3	2	5	2	3	2	4	rs143629874		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:52824378C>T	ENST00000252245.5	-	5	1202	c.982G>A	c.(982-984)Gag>Aag	p.E328K		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	328	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCAATGTCCTCGTATTGTGCT	0.572													7	175					0	0	0	0	T	52824378	C	T	52824378	3	4	87	1	0	0	0	0	1	0	0	0	8540	893	31	1	693	1	KRT75	12	52824378	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1189669	52824378	81027517	321	16859											
EIF4B	1975	broad.mit.edu	37	chr12	53421849	53421849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcatttggcagtgggtatCgcagggatgatgactacaga	11	9	15	6	1	0	3	0	2	0	1	1	5	0	4	0	3	2	4	0	3	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:53421849C>T	ENST00000262056.9	+	8	1182	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	EIF4B_ENST00000420463.3_Missense_Mutation_p.R286C|EIF4B_ENST00000416762.3_Missense_Mutation_p.R247C|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	286	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGTGGGTATCGCAGGGATGA	0.498													8	81					0	0	0	0	T	53421849	C	T	53421849	3	4	87	1	0	0	0	0	1	0	0	0	5065	884	31	1	886	1	EIF4B	12	53421849	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	597471	53421849	80430046	322	16860											
ESPL1	9700	broad.mit.edu	37	chr12	53680438	53680438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtgtccctggctcagaGccctctaagactcagggcca	11	7	10	13	0	3	2	2	0	1	2	4	2	4	2	3	2	1	1	3	2	3	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:53680438G>A	ENST00000257934.4	+	18	4009	c.3918G>A	c.(3916-3918)gaG>gaA	p.E1306E	ESPL1_ENST00000552462.1_Silent_p.E1306E	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1306					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGGCTCAGAGCCCTCTAAGA	0.532													6	57					0	0	0	0	A	53680438	G	A	53680438	2	1	87	1	0	0	0	0	0	0	0	1	5291	962	34	4		4	ESPL1	12	53680438	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	258589	53680438	80171457	323	16861											
HOXC13	3229	broad.mit.edu	37	chr12	54338828	54338828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagctaccggcgcgggCgcaagaaacgcgtgccctac	9	4	14	14	6	0	2	0	1	0	1	0	2	0	2	2	2	6	3	2	2	4	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:54338828C>T	ENST00000243056.3	+	2	937	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	261						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						CCGGCGCGGGCGCAAGAAACG	0.602			T	NUP98	AML								12	111					0	0	0	0	T	54338828	C	T	54338828	3	4	87	1	0	0	0	0	1	0	0	0	7362	768	27	1	787	1	HOXC13	12	54338828	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	658390	54338828	79513067	324	16862											
NFE2	4778	broad.mit.edu	37	chr12	54686499	54686499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactagcgctagctggctctCtgtcagcgggtaccttgcca	6	10	12	13	2	2	0	1	0	1	0	3	1	2	0	2	2	5	4	2	2	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:54686499C>T	ENST00000540264.2	-	2	1290	c.781G>A	c.(781-783)Gag>Aag	p.E261K	NFE2_ENST00000312156.4_Missense_Mutation_p.E261K|NFE2_ENST00000435572.2_Missense_Mutation_p.E261K|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.E261K			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	261					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						AGCTGGCTCTCTGTCAGCGGG	0.542													4	49					0	0	0	0	T	54686499	C	T	54686499	3	4	87	1	0	0	0	0	1	0	0	0	10436	922	32	2	344	2	NFE2	12	54686499	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	347671	54686499	79165396	325	16863											
NCKAP1L	3071	broad.mit.edu	37	chr12	54894338	54894338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacatttaggaccagtacatCgtgaaaaagccgagataatt	17	9	8	7	2	0	2	0	1	0	1	1	4	0	3	2	1	3	1	2	1	6	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:54894338C>T	ENST00000293373.6	+	3	314	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R29C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	79					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.R79C(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ACCAGTACATCGTGAAAAAGC	0.378													9	163					0	0	0	0	T	54894338	C	T	54894338	3	4	87	1	0	0	0	0	1	0	0	0	10292	884	31	1	245	1	NCKAP1L	12	54894338	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	207839	54894338	78957557	326	16864											
RDH16	8608	broad.mit.edu	37	chr12	57348692	57348692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccatcccagacccatacctGagggagtcagagaaggcttc	11	6	10	14	0	1	3	1	1	0	2	3	5	2	4	4	2	1	1	4	2	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:57348692G>A	ENST00000398138.3	-	2	1426	c.570C>T	c.(568-570)ctC>ctT	p.L190L	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	190					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	p.L190L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						ACCCATACCTGAGGGAGTCAG	0.567													6	53					0	0	0	0	A	57348692	G	A	57348692	2	1	87	1	0	0	0	0	0	0	0	1	13276	1277	45	2		2	RDH16	12	57348692	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2454354	57348692	76503203	327	16865											
LRP1	4035	broad.mit.edu	37	chr12	57572242	57572242	+	Frame_Shift_Del	DEL	G	G	-																															cgtttgcagtgacgctgtacGggggggaggtctactggact																								rs139915490		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:57572242delG	ENST00000243077.3	+	27	4928	c.4462delG	c.(4462-4464)ggfs	p.G1489fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1489					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACGCTGTACGGGGGGGAGGT	0.587													7	118	---	---	---	---					-	57572242	G	-	57572242	7	5	87	1	0	1	0	1	0	0	0	0	9015	1116	39	0	4568	0	LRP1	12	57572242	Frame_Shift_Del	DEL	G	TCGA-CN-5369-01A-01D-1434-08	223550	57572242	76279653	328	16866											
MGAT4C	25834	broad.mit.edu	37	chr12	86373610	86373610	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaaaacggatcacatttttCtgagccaacagaccacggaa	15	9	7	10	2	2	2	1	1	1	1	2	4	2	4	2	2	3	0	2	2	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:86373610C>G	ENST00000604798.1	-	8	2098	c.894G>C	c.(892-894)caG>caC	p.Q298H	MGAT4C_ENST00000549405.2_Missense_Mutation_p.Q298H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.Q298H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.Q327H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Missense_Mutation_p.Q298H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.Q298H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	298					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCACATTTTTCTGAGCCAACA	0.383													11	95					0	0	0	0	G	86373610	C	G	86373610	3	3	87	1	0	0	0	0	1	0	0	0	9616	912	32	2	546	2	MGAT4C	12	86373610	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	28801368	86373610	47478285	329	16867											
TMTC3	160418	broad.mit.edu	37	chr12	88553917	88553917	+	Frame_Shift_Del	DEL	T	T	-																															ctccaattgccttgacagtgTttttagtggctgttgcaaca																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:88553917delT	ENST00000266712.6	+	5	755	c.535delT	c.(535-537)ttfs	p.F179fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	179						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CTTGACAGTGTTTTTAGTGGC	0.318													11	165	---	---	---	---					-	88553917	T	-	88553917	7	5	87	1	0	1	0	1	0	0	0	0	16356	1725	60	0	549	0	TMTC3	12	88553917	Frame_Shift_Del	DEL	T	TCGA-CN-5369-01A-01D-1434-08	2180307	88553917	45297978	330	16868											
ELK3	2004	broad.mit.edu	37	chr12	96641121	96641121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgtccctgccttccaCgtcagaggctgcggcggcgt	3	9	16	13	4	1	1	1	0	0	1	3	1	3	1	3	5	2	1	3	5	0	1	rs118124881	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:96641121C>T	ENST00000228741.3	+	3	937	c.611C>T	c.(610-612)aCg>aTg	p.T204M	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	204					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CTGCCTTCCACGTCAGAGGCT	0.587													10	100					0	0	0	0	T	96641121	C	T	96641121	3	4	87	1	0	0	0	0	1	0	0	0	5098	536	19	1	617	1	ELK3	12	96641121	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	8087204	96641121	37210774	331	16869											
TMPO	7112	broad.mit.edu	37	chr12	98926626	98926626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaagaacacaagaaagtGaagtccactagggatattgt	19	7	10	5	0	0	4	0	1	0	3	1	5	1	5	1	1	1	0	1	1	8	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:98926626G>A	ENST00000266732.4	+	4	829	c.591G>A	c.(589-591)gtG>gtA	p.V197V	TMPO_ENST00000393053.2_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000261210.5_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	197	NAKAP95-binding N.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACAAGAAAGTGAAGTCCACTA	0.408													8	107					0	0	0	0	A	98926626	G	A	98926626	2	1	87	1	0	0	0	0	0	0	0	1	16331	1277	45	2		2	TMPO	12	98926626	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2285505	98926626	34925269	332	16870											
NUAK1	9891	broad.mit.edu	37	chr12	106464625	106464625	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttgtgatcgaaaccatcGaagggcattgttccataaac	12	13	8	8	2	0	1	0	1	0	0	3	3	1	1	2	1	2	2	2	1	4	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:106464625G>A	ENST00000261402.2	-	6	2138	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	253	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.F253F(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CGAAACCATCGAAGGGCATTG	0.547													7	53					0	0	0	0	A	106464625	G	A	106464625	2	1	87	1	0	0	0	0	0	0	0	1	10783	1049	37	1		1	NUAK1	12	106464625	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	7537999	106464625	27387270	333	16871											
TPCN1	53373	broad.mit.edu	37	chr12	113704019	113704019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgacaagttcttcacccaccCcaaggatgccaaggcgctgg	10	6	10	15	2	2	0	1	0	1	0	2	2	2	1	4	3	1	2	4	3	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:113704019C>T	ENST00000550785.1	+	5	657	c.488C>T	c.(487-489)cCc>cTc	p.P163L	TPCN1_ENST00000392569.4_Missense_Mutation_p.P23L|TPCN1_ENST00000541517.1_Missense_Mutation_p.P163L|TPCN1_ENST00000335509.6_Missense_Mutation_p.P91L	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	91						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TTCACCCACCCCAAGGATGCC	0.582													24	202					0	0	0	0	T	113704019	C	T	113704019	3	4	87	1	0	0	0	0	1	0	0	0	16490	623	22	4	502	4	TPCN1	12	113704019	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	7239394	113704019	20147876	334	16872											
TPCN1	53373	broad.mit.edu	37	chr12	113714796	113714796	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtctttgctactgcacaagCgaaccgctatccagcatgcc	10	9	8	14	2	1	0	0	0	1	0	2	1	2	0	3	0	7	4	3	0	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:113714796C>T	ENST00000550785.1	+	12	1400	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	TPCN1_ENST00000392569.4_Nonsense_Mutation_p.R271*|TPCN1_ENST00000541517.1_Nonsense_Mutation_p.R411*|TPCN1_ENST00000335509.6_Nonsense_Mutation_p.R339*	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	339						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						ACTGCACAAGCGAACCGCTAT	0.567													18	262					0	0	0	0	T	113714796	C	T	113714796	4	4	87	1	0	0	0	0	0	1	0	0	16490	760	27	1	1273	1	TPCN1	12	113714796	Nonsense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	10777	113714796	20137099	335	16873											
PARP4	143	broad.mit.edu	37	chr13	25072325	25072325	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggagtcccgcgaacactGaagctccaccaccacagctt	10	6	8	17	2	0	1	0	1	0	0	2	3	2	2	5	1	3	2	5	1	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:25072325G>A	ENST00000381989.3	-	6	625	c.520C>T	c.(520-522)Cag>Tag	p.Q174*		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	174					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CGCGAACACTGAAGCTCCACC	0.507													7	48					0	0	0	0	A	25072325	G	A	25072325	4	1	87	1	0	0	0	0	0	1	0	0	11534	1299	45	2	4770	2	PARP4	13	25072325	Nonsense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08		25072325	90097553	336	16874											
SLC7A1	6541	broad.mit.edu	37	chr13	30104749	30104749	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtttttaaccgatcctttCacaaatcctgacaccattat	12	14	3	12	1	1	1	1	1	0	0	3	2	3	1	4	0	1	1	4	0	3	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:30104749C>T	ENST00000380752.5	-	5	1016	c.630G>A	c.(628-630)gtG>gtA	p.V210V		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	210					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCGATCCTTTCACAAATCCTG	0.443													19	144					0	0	0	0	T	30104749	C	T	30104749	2	4	87	1	0	0	0	0	0	0	0	1	14780	813	29	2		2	SLC7A1	13	30104749	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	5032424	30104749	85065129	337	16875											
B3GALTL	145173	broad.mit.edu	37	chr13	31822041	31822041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggattttcttctgtgaaGaagagacaagaatacagatt	14	13	9	5	0	2	5	0	1	2	4	2	7	2	6	0	1	1	0	0	1	5	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:31822041G>A	ENST00000343307.4	+	6	546	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	133					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CTTCTGTGAAGAAGAGACAAG	0.333													3	34					0	0	0	0	A	31822041	G	A	31822041	3	1	87	1	0	0	0	0	1	0	0	0	1256	943	33	2	419	2	B3GALTL	13	31822041	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1717292	31822041	83347837	338	16876											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017343	33017343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaaaaatcttcatttcctAtcagtagtttgtctgtcaat	11	17	6	7	0	5	1	3	1	2	0	6	1	6	1	1	0	0	2	1	0	5	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:33017343A>G	ENST00000357505.6	-	7	1390	c.1286T>C	c.(1285-1287)aTa>aCa	p.I429T	N4BP2L2_ENST00000399396.3_Missense_Mutation_p.I444T|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.I429T	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	100										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTCATTTCCTATCAGTAGTTT	0.418													10	52					0	0	0	0	G	33017343	A	G	33017343	3	3	87	1	0	0	0	0	1	0	0	0	10182	449	16	5	939	5	N4BP2L2	13	33017343	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	1195302	33017343	82152535	339	16877											
LPAR6	10161	broad.mit.edu	37	chr13	48985612	48985612	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgcaccatgaacttcagaGaatctgaagtcacttctcct	11	12	6	12	0	5	3	2	2	3	1	6	4	5	3	2	0	2	1	2	0	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:48985612G>C	ENST00000378434.4	-	7	2572	c.948C>G	c.(946-948)ttC>ttG	p.F316L	LPAR6_ENST00000345941.2_Missense_Mutation_p.F316L|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	316						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						GAACTTCAGAGAATCTGAAGT	0.338													14	82					0	0	0	0	C	48985612	G	C	48985612	3	2	87	1	0	0	0	0	1	0	0	0	8973	933	33	2	90	2	LPAR6	13	48985612	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	15968269	48985612	66184266	340	16878											
ATP7B	540	broad.mit.edu	37	chr13	52518381	52518381	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccgcatgaccctggggAcgccatgggtaatggtgcca	8	6	14	13	2	0	1	0	1	0	0	0	2	0	2	4	4	1	3	4	4	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:52518381A>G	ENST00000242839.4	-	14	3263	c.3107T>C	c.(3106-3108)gTc>gCc	p.V1036A	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.V606A|ATP7B_ENST00000344297.5_Missense_Mutation_p.V829A|ATP7B_ENST00000418097.2_Missense_Mutation_p.V971A|ATP7B_ENST00000448424.2_Missense_Mutation_p.V958A|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.V925A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1036					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GACCCTGGGGACGCCATGGGT	0.567									Wilson disease				6	43					0	0	0	0	G	52518381	A	G	52518381	3	3	87	1	0	0	0	0	1	0	0	0	1195	275	10	5	1322	5	ATP7B	13	52518381	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	3532769	52518381	62651497	341	16879											
PCDH17	27253	broad.mit.edu	37	chr13	58299367	58299367	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatgcagaggaagttgtgaGagaaattgataagcttttgc	13	11	14	3	0	0	4	0	2	0	2	0	7	0	6	0	2	3	3	0	2	3	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:58299367G>C	ENST00000377918.3	+	4	3445	c.3419G>C	c.(3418-3420)aGa>aCa	p.R1140T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1140					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAAGTTGTGAGAGAAATTGAT	0.488													11	215					0	0	0	0	C	58299367	G	C	58299367	3	2	87	1	0	0	0	0	1	0	0	0	11583	942	33	2	3433	2	PCDH17	13	58299367	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	5780986	58299367	56870511	342	16880											
DIAPH3	81624	broad.mit.edu	37	chr13	60686226	60686226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatctctaaaggtgctgctGagcaatcactgcttgcaaat	11	12	8	10	0	3	1	2	1	1	0	4	1	3	1	0	1	5	5	0	1	4	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:60686226G>A	ENST00000400324.4	-	3	528	c.308C>T	c.(307-309)tCa>tTa	p.S103L	DIAPH3_ENST00000400320.1_Missense_Mutation_p.S92L|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000267215.4_Missense_Mutation_p.S103L|DIAPH3_ENST00000400330.1_Missense_Mutation_p.S103L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.S92L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	103					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGGTGCTGCTGAGCAATCACT	0.408													15	175					0	0	0	0	A	60686226	G	A	60686226	3	1	87	1	0	0	0	0	1	0	0	0	4557	1294	45	2	3397	2	DIAPH3	13	60686226	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2386859	60686226	54483652	343	16881											
KLF5	688	broad.mit.edu	37	chr13	73636025	73636025	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgaaatggagaagtatctGacacctcagcttcctccagt	11	11	9	10	0	2	3	1	2	1	1	4	4	4	3	3	1	1	2	3	1	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:73636025G>C	ENST00000377687.4	+	2	824	c.288G>C	c.(286-288)ctG>ctC	p.L96L	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Silent_p.L5L	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	96					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AGAAGTATCTGACACCTCAGC	0.428													12	128					0	0	0	0	C	73636025	G	C	73636025	2	2	87	1	0	0	0	0	0	0	0	1	8401	1277	45	2		2	KLF5	13	73636025	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	12949799	73636025	41533853	344	16882											
SLITRK6	84189	broad.mit.edu	37	chr13	86368721	86368722	+	Frame_Shift_Ins	INS	-	-	T																															tttgctcatctacttgtttcINStttttgtatcttctcctgcg																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:86368721_86368722insT	ENST00000400286.2	-	2	2520_2521	c.1922_1923insA	c.(1921-1923)aaafs	p.K641fs		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	641						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTACTTGTTTCTTTTTGTATCT	0.411													13	156	---	---	---	---					T	86368722	-	T	86368721	7	5	87	1	0	1	1	0	0	0	0	0	14835	912	32	0	606	0	SLITRK6	13	86368721	Frame_Shift_Ins	INS	-	TCGA-CN-5369-01A-01D-1434-08	12732696	86368721	28801157	345	16883											
FAM155A	728215	broad.mit.edu	37	chr13	108518310	108518310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaagttccagagcggagtgGgatgcttgctcctcacctcc	8	9	11	13	1	1	1	1	0	0	1	4	3	4	3	4	2	3	3	4	2	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:108518310G>T	ENST00000375915.2	-	1	773	c.635C>A	c.(634-636)cCc>cAc	p.P212H		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	212						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GAGCGGAGTGGGATGCTTGCT	0.587													7	120					0.00307968	0.00314674	1	0	T	108518310	G	T	108518310	3	4	87	1	0	0	0	0	1	0	0	0	5506	1232	43	4	753	4	FAM155A	13	108518310	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	22149589	108518310	6651568	346	16884											
LIG4	3981	broad.mit.edu	37	chr13	108861664	108861664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattagaaattttgttaacGttagtaaggttaggtgcttt	12	18	9	2	1	0	1	0	0	0	1	0	1	0	1	0	2	2	5	0	2	7	9			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:108861664G>A	ENST00000356922.4	-	2	2225	c.1953C>T	c.(1951-1953)aaC>aaT	p.N651N	LIG4_ENST00000405925.1_Silent_p.N651N|LIG4_ENST00000442234.1_Silent_p.N651N	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	651					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTGTTAACGTTAGTAAGGT	0.373								Non-homologous end-joining					12	80					0	0	0	0	A	108861664	G	A	108861664	2	1	87	1	0	0	0	0	0	0	0	1	8837	1136	40	1		1	LIG4	13	108861664	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	343354	108861664	6308214	347	16885											
ANKRD10	55608	broad.mit.edu	37	chr13	111563113	111563113	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaactgcactaagcacTccaacttcgaaaacaagagg	16	6	6	13	1	1	1	1	0	0	1	3	2	2	1	2	1	5	2	2	1	6	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:111563113T>C	ENST00000375758.5	-	2	349	c.215A>G	c.(214-216)gAg>gGg	p.E72G	ANKRD10_ENST00000310847.4_Missense_Mutation_p.E72G|ANKRD10_ENST00000267339.2_Missense_Mutation_p.E72G			Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	72										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			CACTAAGCACTCCAACTTCGA	0.478													6	59					0	0	0	0	C	111563113	T	C	111563113	3	2	87	1	0	0	0	0	1	0	0	0	638	1551	54	5	1067	5	ANKRD10	13	111563113	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	2701449	111563113	3606765	348	16886											
NGDN	25983	broad.mit.edu	37	chr14	23945268	23945268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggatgaggaggaagatgaaGcagaagatgaccagtctgag	16	5	16	4	0	1	7	0	4	1	3	1	10	1	10	1	3	1	1	1	3	3	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:23945268G>A	ENST00000397154.3	+	7	464	c.451G>A	c.(451-453)Gca>Aca	p.A151T	NGDN_ENST00000408901.3_Missense_Mutation_p.A151T			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	151	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGAAGATGAAGCAGAAGATGA	0.413													12	68					0	0	0	0	A	23945268	G	A	23945268	3	1	87	1	0	0	0	0	1	0	0	0	10463	971	34	4	477	4	NGDN	14	23945268	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08		23945268	83404272	349	16887											
CMA1	1215	broad.mit.edu	37	chr14	24975727	24975727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgttatattttggatgaCggaattgctttataacctca	12	16	8	5	1	1	1	1	1	0	0	1	3	1	3	1	2	2	2	1	2	6	8	rs13306252	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:24975727C>T	ENST00000250378.3	-	3	322	c.293G>A	c.(292-294)cGt>cAt	p.R98H	CMA1_ENST00000206446.4_5'UTR|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	98	Peptidase S1.		R -> H (in dbSNP:rs13306252).		interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TTTTGGATGACGGAATTGCTT	0.423													12	134					0	0	0	0	T	24975727	C	T	24975727	3	4	87	1	0	0	0	0	1	0	0	0	3604	536	19	1	462	1	CMA1	14	24975727	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1030459	24975727	82373813	350	16888											
ARHGAP5	394	broad.mit.edu	37	chr14	32562761	32562761	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatcaacccatcaaagtgaAgatgtttttctaccatctcc	13	12	5	11	0	4	2	2	1	2	1	5	3	4	2	3	0	2	1	3	0	5	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:32562761A>C	ENST00000345122.3	+	2	3201	c.2886A>C	c.(2884-2886)gaA>gaC	p.E962D	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E962D|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E962D|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E962D	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	962					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCAAAGTGAAGATGTTTTTC	0.358													10	120					0	0	0	0	C	32562761	A	C	32562761	3	2	87	1	0	0	0	0	1	0	0	0	888	69	3	5	2888	5	ARHGAP5	14	32562761	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	7587034	32562761	74786779	351	16889											
AKAP6	9472	broad.mit.edu	37	chr14	33292499	33292499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcagtgatgagatgaaggGcagtaaagatataagtagca	16	9	13	3	0	1	4	1	3	0	2	1	5	1	4	0	1	1	4	0	1	6	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:33292499G>A	ENST00000280979.4	+	13	5650	c.5480G>A	c.(5479-5481)gGc>gAc	p.G1827D	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1827					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)		GAGATGAAGGGCAGTAAAGAT	0.383													8	114					0	0	0	0	A	33292499	G	A	33292499	3	1	87	1	0	0	0	0	1	0	0	0	455	1203	42	4	5526	4	AKAP6	14	33292499	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	729738	33292499	74057041	352	16890											
CTAGE5	4253	broad.mit.edu	37	chr14	39734617	39734617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatggaattgaaaagtccaGaggaagaggtgagtttataa	18	9	12	2	0	0	4	0	2	0	2	1	6	1	6	1	3	0	1	1	3	7	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:39734617G>A	ENST00000341749.3	+	1	122	c.19G>A	c.(19-21)Gag>Aag	p.E7K	CTAGE5_ENST00000557038.1_5'UTR|RP11-407N17.3_ENST00000553728.1_Intron	NM_203354.2	NP_976229.1	O15320	CTGE5_HUMAN	CTAGE family, member 5	0							enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GAAAAGTCCAGAGGAAGAGGT	0.343													3	32					0	0	0	0	A	39734617	G	A	39734617	3	1	87	1	0	0	0	0	1	0	0	0	4026	943	33	2	21	2	CTAGE5	14	39734617	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	6442118	39734617	67614923	353	16891											
CTAGE5	4253	broad.mit.edu	37	chr14	39782616	39782616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagtagatgaaaagatcagCcatgccactgaagagctgga	17	6	11	7	0	1	5	1	2	0	3	1	6	1	6	2	1	3	2	2	1	5	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:39782616C>A	ENST00000553728.1	+	18	3084	c.2871C>A	c.(2869-2871)agC>agA	p.S957R	CTAGE5_ENST00000396158.2_Missense_Mutation_p.S427R|CTAGE5_ENST00000280083.3_Missense_Mutation_p.S422R|CTAGE5_ENST00000557038.1_Missense_Mutation_p.S342R|CTAGE5_ENST00000396165.4_Missense_Mutation_p.S393R|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S410R|CTAGE5_ENST00000341502.5_Missense_Mutation_p.S422R|CTAGE5_ENST00000556148.1_Missense_Mutation_p.S347R|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S393R|CTAGE5_ENST00000553352.1_Missense_Mutation_p.S393R|CTAGE5_ENST00000348007.3_Missense_Mutation_p.S422R																							AAAAGATCAGCCATGCCACTG	0.308													6	72					1.12685e-05	1.21017e-05	1	0	A	39782616	C	A	39782616	3	1	87	1	0	0	0	0	1	0	0	0	4026	738	26	4	1351	4	CTAGE5	14	39782616	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	47999	39782616	67566924	354	16892											
RPL10L	140801	broad.mit.edu	37	chr14	47120636	47120636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccagcacaggacaacaTcttgttgatgcggatgacat	12	8	10	11	1	1	2	0	2	1	0	1	4	1	4	2	2	4	2	2	2	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:47120636T>C	ENST00000298283.3	-	1	392	c.304A>G	c.(304-306)Atg>Gtg	p.M102V		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	102					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CAGGACAACATCTTGTTGATG	0.527													6	77					0	0	0	0	C	47120636	T	C	47120636	3	2	87	1	0	0	0	0	1	0	0	0	13641	1435	50	5	344	5	RPL10L	14	47120636	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	7338020	47120636	60228904	355	16893											
BMP4	652	broad.mit.edu	37	chr14	54418851	54418851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgacttttttcttcccCgtctcaggtatcaaactagc	7	14	7	13	3	3	0	2	0	2	0	6	1	4	0	2	2	2	1	2	2	3	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:54418851C>T	ENST00000245451.4	-	3	483	c.90G>A	c.(88-90)acG>acA	p.T30T	BMP4_ENST00000558984.1_Silent_p.T30T|BMP4_ENST00000417573.1_Silent_p.T30T|BMP4_ENST00000559087.1_Silent_p.T30T	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	30					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TTTTCTTCCCCGTCTCAGGTA	0.567													9	74					0	0	0	0	T	54418851	C	T	54418851	2	4	87	1	0	0	0	0	0	0	0	1	1467	639	23	1		1	BMP4	14	54418851	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	7298215	54418851	52930689	356	16894											
KCNH5	27133	broad.mit.edu	37	chr14	63174448	63174448	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtcctctttgagttcGtgtttgacttcctgcagtgt	4	18	11	8	1	1	2	0	2	1	0	4	3	3	3	2	1	1	3	2	1	0	4	rs138093802		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:63174448G>A	ENST00000322893.7	-	11	3013	c.2745C>T	c.(2743-2745)caC>caT	p.H915H	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	915	CAD (involved in subunit assembly) (By similarity).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTTGAGTTCGTGTTTGACTT	0.512													13	142					0	0	0	0	A	63174448	G	A	63174448	2	1	87	1	0	0	0	0	0	0	0	1	8088	1136	40	1		1	KCNH5	14	63174448	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	8755597	63174448	44175092	357	16895											
KCNH5	27133	broad.mit.edu	37	chr14	63174587	63174587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaacgaaggtcactttttGtaattccactgtcacaagaa	14	11	6	10	1	2	1	2	0	0	1	3	2	3	1	2	1	1	1	2	1	5	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:63174587G>T	ENST00000322893.7	-	11	2874	c.2606C>A	c.(2605-2607)aCa>aAa	p.T869K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	869					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTCACTTTTTGTAATTCCACT	0.498													7	101					0.00307968	0.00314674	1	0	T	63174587	G	T	63174587	3	4	87	1	0	0	0	0	1	0	0	0	8088	1377	48	4	364	4	KCNH5	14	63174587	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	139	63174587	44174953	358	16896											
ZFYVE26	23503	broad.mit.edu	37	chr14	68274151	68274151	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctcggtggcttttctgTgaccttctctgcataggtat	5	15	10	11	1	2	1	0	1	2	0	4	1	2	1	2	3	2	3	2	3	2	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:68274151T>C	ENST00000347230.4	-	5	988	c.850A>G	c.(850-852)Aca>Gca	p.T284A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.T284A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	284					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGCTTTTCTGTGACCTTCTCT	0.597													7	44					0	0	0	0	C	68274151	T	C	68274151	3	2	87	1	0	0	0	0	1	0	0	0	17763	1696	59	5	6921	5	ZFYVE26	14	68274151	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	5099564	68274151	39075389	359	16897											
FAM161B	145483	broad.mit.edu	37	chr14	74411111	74411111	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggccttctgcttggagatCttggcttcagctgtggctgc	3	14	14	10	0	3	1	1	0	2	1	3	2	3	1	1	4	3	4	1	4	0	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:74411111C>G	ENST00000286544.3	-	3	1239	c.1041G>C	c.(1039-1041)aaG>aaC	p.K347N	FAM161B_ENST00000534936.1_Missense_Mutation_p.K284N	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GCTTGGAGATCTTGGCTTCAG	0.542													8	145					0	0	0	0	G	74411111	C	G	74411111	3	3	87	1	0	0	0	0	1	0	0	0	5514	912	32	2	1119	2	FAM161B	14	74411111	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	6136960	74411111	32938429	360	16898											
FAM161B	145483	broad.mit.edu	37	chr14	74411195	74411195	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggaagctgaagggcttCaaagaagagaggagcagttc	14	6	14	7	0	1	3	1	1	0	2	3	6	2	5	1	3	2	4	1	3	4	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:74411195C>T	ENST00000286544.3	-	3	1155	c.957G>A	c.(955-957)ttG>ttA	p.L319L	FAM161B_ENST00000534936.1_Silent_p.L256L	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TGAAGGGCTTCAAAGAAGAGA	0.562													6	100					0	0	0	0	T	74411195	C	T	74411195	2	4	87	1	0	0	0	0	0	0	0	1	5514	825	29	2		2	FAM161B	14	74411195	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	84	74411195	32938345	361	16899											
DIO2	1734	broad.mit.edu	37	chr14	80677621	80677621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggcatcgaggaggaagctCttccagacgcagcgcagtcc	10	6	13	12	3	1	1	0	0	1	1	4	4	3	3	2	3	2	4	2	3	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:80677621C>G	ENST00000557010.1	-	3	580	c.195G>C	c.(193-195)aaG>aaC	p.K65N	DIO2_ENST00000438257.4_Missense_Mutation_p.K65N|DIO2_ENST00000422005.3_Missense_Mutation_p.K65N|DIO2_ENST00000555750.1_Missense_Mutation_p.K65N|DIO2_ENST00000557125.1_Intron	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	65					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGAGGAAGCTCTTCCAGACGC	0.612													3	31					0	0	0	0	G	80677621	C	G	80677621	3	3	87	1	0	0	0	0	1	0	0	0	4562	912	32	2	746	2	DIO2	14	80677621	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	6266426	80677621	26671919	362	16900											
TSHR	7253	broad.mit.edu	37	chr14	81610460	81610460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttcaccaaggccttccaGagggatgtgttcatcctact	9	13	8	11	0	2	1	2	0	0	1	4	2	4	2	4	2	1	1	4	2	2	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:81610460G>A	ENST00000541158.2	+	11	2380	c.2058G>A	c.(2056-2058)caG>caA	p.Q686Q	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.Q686Q			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	686					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.Q686H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AGGCCTTCCAGAGGGATGTGT	0.478			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						19	145					0	0	0	0	A	81610460	G	A	81610460	2	1	87	1	0	0	0	0	0	0	0	1	16717	933	33	2		2	TSHR	14	81610460	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	932839	81610460	25739080	363	16901											
PRIMA1	145270	broad.mit.edu	37	chr14	94187823	94187823	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcacgtctactcctttGttgctctgcgaagcactcat	6	16	7	12	2	4	0	2	0	2	0	5	1	5	0	1	0	4	4	1	0	2	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:94187823G>A	ENST00000393140.1	-	5	531	c.429C>T	c.(427-429)aaC>aaT	p.N143N	PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_Silent_p.N143N	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	143					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		CTACTCCTTTGTTGCTCTGCG	0.572													4	42					0	0	0	0	A	94187823	G	A	94187823	2	1	87	1	0	0	0	0	0	0	0	1	12572	1368	48	4		4	PRIMA1	14	94187823	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	12577363	94187823	13161717	364	16902											
CLMN	79789	broad.mit.edu	37	chr14	95670573	95670573	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggtggagctgtctgacagCgcatggctggaaacaccatc	9	8	13	11	2	1	1	0	1	1	0	3	3	1	3	1	4	3	3	1	4	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:95670573C>T	ENST00000298912.4	-	9	1226	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	371						integral to membrane	actin binding	p.A371A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TGTCTGACAGCGCATGGCTGG	0.542													10	88					0	0	0	0	T	95670573	C	T	95670573	2	4	87	1	0	0	0	0	0	0	0	1	3572	755	27	1		1	CLMN	14	95670573	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1482750	95670573	11678967	365	16903											
EIF5	1983	broad.mit.edu	37	chr14	103805991	103805991	+	Frame_Shift_Del	DEL	A	A	-																															tgcagttttgtcacaacaacAaaaaagcccaacggtacctt																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:103805991delA	ENST00000216554.3	+	10	1598	c.922delA	c.(922-924)aafs	p.K309fs	EIF5_ENST00000558506.1_Frame_Shift_Del_p.K309fs|EIF5_ENST00000392715.2_Frame_Shift_Del_p.K309fs	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	309	W2.				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TCACAACAACAAAAAAGCCCA	0.388													12	124	---	---	---	---					-	103805991	A	-	103805991	7	5	87	1	0	1	0	1	0	0	0	0	5078	131	5	0	952	0	EIF5	14	103805991	Frame_Shift_Del	DEL	A	TCGA-CN-5369-01A-01D-1434-08	8135418	103805991	3543549	366	16904											
MTA1	9112	broad.mit.edu	37	chr14	105931110	105931110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgaagctgacgcggatcGcccggcgcctgtgccgtgag	6	5	16	14	8	0	2	0	2	0	0	1	5	0	3	3	2	2	1	3	2	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:105931110G>A	ENST00000331320.7	+	15	1658	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	MTA1_ENST00000406191.1_Missense_Mutation_p.A482T|MTA1_ENST00000405646.1_Missense_Mutation_p.A465T|MTA1_ENST00000435036.2_Missense_Mutation_p.A18T	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	482					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GACGCGGATCGCCCGGCGCCT	0.677													4	25					0	0	0	0	A	105931110	G	A	105931110	3	1	87	1	0	0	0	0	1	0	0	0	9978	1087	38	1	1502	1	MTA1	14	105931110	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2125119	105931110	1418430	367	16905											
ATP10A	57194	broad.mit.edu	37	chr15	25925395	25925395	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaagacgcattgtaaaTcaaagccacggtgaaaaaca	18	5	9	9	2	1	2	1	1	0	1	1	2	1	2	1	2	2	3	1	2	6	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:25925395T>A	ENST00000356865.6	-	20	3850	c.3739A>T	c.(3739-3741)Att>Ttt	p.I1247F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1247					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCATTGTAAATCAAAGCCACG	0.478													10	99					0	0	0	0	A	25925395	T	A	25925395	3	1	87	1	0	0	0	0	1	0	0	0	1120	1435	50	5	768	5	ATP10A	15	25925395	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08		25925395	76605997	368	16906											
BAHD1	22893	broad.mit.edu	37	chr15	40754430	40754430	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgccctcgccgccgccgTcgccgccgcactaatggctg	4	5	11	21	8	0	0	0	0	0	0	2	0	0	0	7	1	0	2	7	1	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:40754430T>C	ENST00000561234.1	+	3	2008	c.1749T>C	c.(1747-1749)cgT>cgC	p.R583R	BAHD1_ENST00000560846.1_Silent_p.R584R|BAHD1_ENST00000416165.1_Silent_p.R584R			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	584	Arg-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCCGCCGCCGTCGCCGCCGCA	0.652													18	103					0	0	0	0	C	40754430	T	C	40754430	2	2	87	1	0	0	0	0	0	0	0	1	1301	1654	58	5		5	BAHD1	15	40754430	Silent	SNP	T	TCGA-CN-5369-01A-01D-1434-08	14829035	40754430	61776962	369	16907											
MAPKBP1	23005	broad.mit.edu	37	chr15	42104154	42104154	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagttcttgcctccctgcaGagtgggcacatgcctgccgt	5	10	11	15	1	1	1	0	0	1	1	2	1	2	1	5	1	4	3	5	1	0	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:42104154G>A	ENST00000457542.2	+	6	613		c.e6-1		MAPKBP1_ENST00000514566.1_Splice_Site|MAPKBP1_ENST00000456763.2_Splice_Site|MAPKBP1_ENST00000260357.7_Splice_Site|MAPKBP1_ENST00000221214.6_Splice_Site	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1											breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCTCCCTGCAGAGTGGGCACA	0.607											OREG0023077	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	49					0	0	0	0	A	42104154	G	A	42104154	5	1	87	1	0	0	0	0	0	0	1	0	9361	956	33	2	345	2	MAPKBP1	15	42104154	Splice_Site	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1349724	42104154	60427238	370	16908											
EHD4	30844	broad.mit.edu	37	chr15	42192889	42192890	+	Frame_Shift_Ins	INS	-	-	G																															gtgcgaggggggcacgaggtINSgggggggcaggctgctgggc																								rs145578237		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:42192889_42192890insG	ENST00000220325.4	-	6	1662_1663	c.1579_1580insC	c.(1579-1581)cctfs	p.P527fs		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	527	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GGGCACGAGGTGGGGGGGCAGG	0.673													8	29	---	---	---	---					G	42192890	-	G	42192889	7	5	87	1	0	1	1	0	0	0	0	0	5016	1696	59	0	49	0	EHD4	15	42192889	Frame_Shift_Ins	INS	-	TCGA-CN-5369-01A-01D-1434-08	88735	42192889	60338503	371	16909											
TP53BP1	7158	broad.mit.edu	37	chr15	43720272	43720272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacacatctgtaatgacaCgagtgacaagtgtgcgtact	14	10	9	8	2	1	2	0	2	1	0	1	3	1	2	0	0	3	2	0	0	5	3	rs144680391	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:43720272C>T	ENST00000263801.3	-	18	4007	c.3755G>A	c.(3754-3756)cGt>cAt	p.R1252H	TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1257H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1257H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1257H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1252					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGTAATGACACGAGTGACAAG	0.423								Other conserved DNA damage response genes					12	138					0	0	0	0	T	43720272	C	T	43720272	3	4	87	1	0	0	0	0	1	0	0	0	16478	536	19	1	2207	1	TP53BP1	15	43720272	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1527383	43720272	58811120	372	16910											
CATSPER2	117155	broad.mit.edu	37	chr15	43940128	43940128	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgaccaagtaactccctGatagtgtgccgcggcacagc	9	8	11	13	2	0	2	0	2	0	0	1	2	1	2	3	1	4	3	3	1	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:43940128G>A	ENST00000396879.1	-	3	244	c.132C>T	c.(130-132)atC>atT	p.I44I	CATSPER2_ENST00000381761.1_Silent_p.I50I|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000354127.4_Silent_p.I44I|CATSPER2_ENST00000355438.2_Silent_p.I44I|CATSPER2_ENST00000321596.5_Silent_p.I44I			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	44					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTAACTCCCTGATAGTGTGCC	0.453													7	152					0	0	0	0	A	43940128	G	A	43940128	2	1	87	1	0	0	0	0	0	0	0	1	2713	1280	45	2		2	CATSPER2	15	43940128	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	219856	43940128	58591264	373	16911											
SQRDL	58472	broad.mit.edu	37	chr15	45981265	45981265	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacacatcatgtccactggTgaccggctacaaccgtgtga	10	9	9	13	2	1	2	1	2	0	0	2	2	2	2	3	2	3	1	3	2	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:45981265T>C	ENST00000260324.7	+	9	1531	c.1145T>C	c.(1144-1146)gTg>gCg	p.V382A	SQRDL_ENST00000568606.1_Missense_Mutation_p.V382A	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	382							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TGTCCACTGGTGACCGGCTAC	0.393													16	138					0	0	0	0	C	45981265	T	C	45981265	3	2	87	1	0	0	0	0	1	0	0	0	15219	1696	59	5	1175	5	SQRDL	15	45981265	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	2041137	45981265	56550127	374	16912											
TRPM7	54822	broad.mit.edu	37	chr15	50925140	50925140	+	Frame_Shift_Del	DEL	T	T	-																															attctggccaaagttaaatgTttttttgatagtggaaataa																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:50925140delT	ENST00000313478.7	-	9	1338	c.1057delA	c.(1057-1059)cafs	p.T353fs	TRPM7_ENST00000560955.1_Frame_Shift_Del_p.T353fs	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	353					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAGTTAAATGTTTTTTTGATA	0.338													10	64	---	---	---	---					-	50925140	T	-	50925140	7	5	87	1	0	1	0	1	0	0	0	0	16686	1725	60	0	4664	0	TRPM7	15	50925140	Frame_Shift_Del	DEL	T	TCGA-CN-5369-01A-01D-1434-08	4943875	50925140	51606252	375	16913											
AP4E1	23431	broad.mit.edu	37	chr15	51221216	51221216	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcttcagggagattgtaCgaagaaaagctgttctggca	11	12	12	6	1	3	2	1	0	2	2	3	4	3	2	0	2	2	4	0	2	4	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:51221216C>T	ENST00000261842.5	+	6	659	c.553C>T	c.(553-555)Cga>Tga	p.R185*	AP4E1_ENST00000560508.1_Nonsense_Mutation_p.R110*	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	185					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GGAGATTGTACGAAGAAAAGC	0.318													7	44					0	0	0	0	T	51221216	C	T	51221216	4	4	87	1	0	0	0	0	0	1	0	0	753	528	19	1	575	1	AP4E1	15	51221216	Nonsense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	296076	51221216	51310176	376	16914											
HERC1	8925	broad.mit.edu	37	chr15	64017534	64017534	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccgtcactgaacagtggCgttttcatccaatatgcagt	11	11	8	11	2	2	1	2	1	0	0	3	1	3	1	2	1	2	2	2	1	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:64017534C>T	ENST00000443617.2	-	18	3612	c.3525G>A	c.(3523-3525)acG>acA	p.T1175T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1175					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGAACAGTGGCGTTTTCATCC	0.473													4	48					0	0	0	0	T	64017534	C	T	64017534	2	4	87	1	0	0	0	0	0	0	0	1	7107	755	27	1		1	HERC1	15	64017534	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	12796318	64017534	38513858	377	16915											
KBTBD13	390594	broad.mit.edu	37	chr15	65370407	65370407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctacgccatcgagggCggcacctggcggctgctcag	5	7	14	15	4	2	0	1	0	1	0	3	1	2	0	2	4	3	4	2	4	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:65370407C>T	ENST00000432196.2	+	1	1254	c.1254C>T	c.(1252-1254)ggC>ggT	p.G418G		NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	418						cytoplasm				lung(1)|prostate(1)|skin(1)	3						CCATCGAGGGCGGCACCTGGC	0.652													5	14					0	0	0	0	T	65370407	C	T	65370407	2	4	87	1	0	0	0	0	0	0	0	1	8045	755	27	1		1	KBTBD13	15	65370407	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1352873	65370407	37160985	378	16916											
SIN3A	25942	broad.mit.edu	37	chr15	75702243	75702243	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattctggctgggcctctgCggcttgttgttcagttgggg	2	14	15	10	1	3	0	1	0	2	0	3	0	3	0	2	5	1	5	2	5	0	5	rs142678572	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:75702243C>T	ENST00000394947.3	-	8	1565	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	SIN3A_ENST00000360439.4_Silent_p.P417P|SIN3A_ENST00000394949.4_Silent_p.P417P	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	417	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGGGCCTCTGCGGCTTGTTGT	0.498													10	86					0	0	0	0	T	75702243	C	T	75702243	2	4	87	1	0	0	0	0	0	0	0	1	14413	755	27	1		1	SIN3A	15	75702243	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	10331836	75702243	26829149	379	16917											
TMED3	23423	broad.mit.edu	37	chr15	79606297	79606297	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgactttcaagtgggcgatGagcctcccattctcccagac	8	11	9	13	1	2	3	1	2	1	1	4	4	3	3	3	1	1	0	3	1	1	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:79606297G>C	ENST00000299705.5	+	2	555	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	TMED3_ENST00000424155.2_Missense_Mutation_p.E123Q|TMED3_ENST00000536821.1_Missense_Mutation_p.E123Q	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	123					protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						AGTGGGCGATGAGCCTCCCAT	0.522													5	92					0	0	0	0	C	79606297	G	C	79606297	3	2	87	1	0	0	0	0	1	0	0	0	16099	1291	45	2	373	2	TMED3	15	79606297	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3904054	79606297	22925095	380	16918											
FAM154B	283726	broad.mit.edu	37	chr15	82575356	82575356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgacaatacaaattcccaaGgtcataaattcttccgcaag	15	10	5	11	2	2	0	1	0	1	0	5	1	4	0	2	1	1	1	2	1	7	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:82575356G>T	ENST00000339465.5	+	3	1219	c.1150G>T	c.(1150-1152)Ggt>Tgt	p.G384C	FAM154B_ENST00000427381.2_Missense_Mutation_p.G369C|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	384										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AAATTCCCAAGGTCATAAATT	0.403													5	74					0.014758	0.0149293	1	0	T	82575356	G	T	82575356	3	4	87	1	0	0	0	0	1	0	0	0	5505	1000	35	4	1160	4	FAM154B	15	82575356	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2969059	82575356	19956036	381	16919											
FSD2	123722	broad.mit.edu	37	chr15	83456014	83456014	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttggactactttcctCatcctagtgttctcttctgg	5	17	7	12	0	4	0	2	0	2	0	7	1	6	1	2	2	2	2	2	2	2	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83456014C>A	ENST00000334574.8	-	2	310	c.129G>T	c.(127-129)atG>atT	p.M43I	FSD2_ENST00000541889.1_Missense_Mutation_p.M43I			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	43										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTACTTTCCTCATCCTAGTGT	0.483													15	145					0.000308642	0.000324047	1	0	A	83456014	C	A	83456014	3	1	87	1	0	0	0	0	1	0	0	0	6119	826	29	2	2168	2	FSD2	15	83456014	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	880658	83456014	19075378	382	16920											
C15orf40	123207	broad.mit.edu	37	chr15	83679041	83679041	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatggatggctatggtgacGcatcctttaggatcaactgc	9	11	12	9	1	1	1	1	1	0	0	2	3	2	3	1	4	2	3	1	4	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83679041G>A	ENST00000304177.5	-	2	219	c.105C>T	c.(103-105)tgC>tgT	p.C35C	C15orf40_ENST00000513601.2_Silent_p.C62C|C15orf40_ENST00000451195.3_Silent_p.C62C|C15orf40_ENST00000565712.1_Intron|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000538348.2_Silent_p.C62C	NM_001160114.1|NM_144597.2	NP_001153586.1|NP_653198.2	Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	35										large_intestine(3)|lung(2)|skin(1)	6						CTATGGTGACGCATCCTTTAG	0.483													15	139					0	0	0	0	A	83679041	G	A	83679041	2	1	87	1	0	0	0	0	0	0	0	1	1806	1079	38	1		1	C15orf40	15	83679041	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	223027	83679041	18852351	383	16921											
BTBD1	53339	broad.mit.edu	37	chr15	83698895	83698895	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atataacagatacctgattcGatcactcgtcccactgtaac	13	11	5	12	2	1	2	1	1	0	1	4	3	2	2	2	0	3	1	2	0	4	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83698895G>A	ENST00000261721.4	-	5	1250	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*	RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Nonsense_Mutation_p.R350*|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	350						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TACCTGATTCGATCACTCGTC	0.448													40	380					0	0	0	0	A	83698895	G	A	83698895	4	1	87	1	0	0	0	0	0	1	0	0	1545	1066	37	1	416	1	BTBD1	15	83698895	Nonsense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	19854	83698895	18832497	384	16922											
TM6SF1	53346	broad.mit.edu	37	chr15	83805312	83805312	+	Frame_Shift_Del	DEL	T	T	-																															ccctgaagaagcaaaaatccTttttttagcattaaacatag																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83805312delT	ENST00000322019.9	+	10	1275	c.1001delT	c.(1000-1002)ctfs	p.L334fs	TM6SF1_ENST00000565774.1_Frame_Shift_Del_p.L303fs|TM6SF1_ENST00000379386.4_Frame_Shift_Del_p.L337fs|TM6SF1_ENST00000379390.6_3'UTR			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	334						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GCAAAAATCCTTTTTTTAGCA	0.368													8	133	---	---	---	---					-	83805312	T	-	83805312	7	5	87	1	0	1	0	1	0	0	0	0	16066	1609	56	0	1039	0	TM6SF1	15	83805312	Frame_Shift_Del	DEL	T	TCGA-CN-5369-01A-01D-1434-08	106417	83805312	18726080	385	16923											
ZSCAN2	54993	broad.mit.edu	37	chr15	85149785	85149785	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcgttgcttcccttccGgtggaggtgaccagtttgta	4	14	13	10	2	0	1	0	1	0	0	3	2	2	2	3	3	1	5	3	3	1	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:85149785G>A	ENST00000334141.3	+	3	658	c.432G>A	c.(430-432)ccG>ccA	p.P144P	ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000327179.6_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Intron|ZSCAN2_ENST00000448803.2_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000379358.3_Intron	NM_017894.5	NP_060364.4	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	0					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CTTCCCTTCCGGTGGAGGTGA	0.438													6	61					0	0	0	0	A	85149785	G	A	85149785	2	1	87	1	0	0	0	0	0	0	0	1	18323	1103	39	1		1	ZSCAN2	15	85149785	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1344473	85149785	17381607	386	16924											
ZNF710	374655	broad.mit.edu	37	chr15	90611533	90611533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacttctgcggccgcggcttCgcctaccccagcgagctcaa	6	7	10	18	5	2	0	1	0	1	0	3	1	2	0	4	2	4	2	4	2	2	3	rs144375764		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:90611533C>T	ENST00000268154.4	+	2	1415	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCCGCGGCTTCGCCTACCCCA	0.642													5	69					0	0	0	0	T	90611533	C	T	90611533	2	4	87	1	0	0	0	0	0	0	0	1	18210	883	31	1		1	ZNF710	15	90611533	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	5461748	90611533	11919859	387	16925											
CCDC78	124093	broad.mit.edu	37	chr16	774185	774185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctggctatgtcaaaaataGcttgggggttcccaggtgcc	9	10	13	9	0	1	0	1	0	0	0	2	0	2	0	2	4	3	4	2	4	4	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:774185G>A	ENST00000293889.6	-	10	1079	c.974C>T	c.(973-975)gCt>gTt	p.A325V		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	325										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GTCAAAAATAGCTTGGGGGTT	0.592													7	79					0	0	0	0	A	774185	G	A	774185	3	1	87	1	0	0	0	0	1	0	0	0	2879	971	34	4	362	4	CCDC78	16	774185	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08		774185	89580568	388	16926											
IFT140	9742	broad.mit.edu	37	chr16	1652541	1652541	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtcgggtgccagcacaGggaagcaacccggaacggcc	9	2	15	15	5	0	0	0	0	0	0	1	2	0	2	4	4	5	2	4	4	3	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:1652541G>A	ENST00000426508.2	-	4	562	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	67										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGCCAGCACAGGGAAGCAACC	0.602													4	43					0	0	0	0	A	1652541	G	A	1652541	2	1	87	1	0	0	0	0	0	0	0	1	7609	991	35	4		4	IFT140	16	1652541	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	878356	1652541	88702212	389	16927											
E4F1	1877	broad.mit.edu	37	chr16	2283182	2283182	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaaagccctggccccaGaggtgggggcgacggggggc	7	3	20	11	2	0	2	0	1	0	1	0	3	0	2	3	7	1	1	3	7	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:2283182G>T	ENST00000301727.4	+	7	1102	c.1054G>T	c.(1054-1056)Gag>Tag	p.E352*	E4F1_ENST00000565090.1_Nonsense_Mutation_p.E352*|E4F1_ENST00000564139.1_Nonsense_Mutation_p.E352*	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	352					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CCTGGCCCCAGAGGTGGGGGC	0.652													10	90					0.000673444	0.000695095	1	0	T	2283182	G	T	2283182	4	4	87	1	0	0	0	0	0	1	0	0	4910	943	33	2	1080	2	E4F1	16	2283182	Nonsense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	630641	2283182	88071571	390	16928											
ZG16B	124220	broad.mit.edu	37	chr16	2880712	2880712	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagatgtatggccctggaGgaggcaagtatttcagcacc	11	8	13	9	0	1	1	1	0	0	1	1	4	1	3	2	4	1	4	2	4	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:2880712G>T	ENST00000382280.3	+	3	257	c.178G>T	c.(178-180)Gga>Tga	p.G60*	ZG16B_ENST00000572863.1_Nonsense_Mutation_p.G30*	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	60						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGGCCCTGGAGGAGGCAAGTA	0.532													15	211					8.28177e-16	9.18524e-16	1	0	T	2880712	G	T	2880712	4	4	87	1	0	0	0	0	0	1	0	0	17767	1001	35	4	188	4	ZG16B	16	2880712	Nonsense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	597530	2880712	87474041	391	16929											
CREBBP	1387	broad.mit.edu	37	chr16	3778902	3778902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggcatccggggcccaGccacggccgcctgggcctgc	3	4	16	18	4	0	0	0	0	0	0	1	0	1	0	6	5	2	2	6	5	0	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:3778902G>T	ENST00000262367.5	-	31	6955	c.6146C>A	c.(6145-6147)gCt>gAt	p.A2049D	CREBBP_ENST00000382070.3_Missense_Mutation_p.A2011D	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2049					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCGGGGCCCAGCCACGGCCGC	0.701			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						5	24					0.000602214	0.000622628	1	0	T	3778902	G	T	3778902	3	4	87	1	0	0	0	0	1	0	0	0	3891	971	34	4	1186	4	CREBBP	16	3778902	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	898190	3778902	86575851	392	16930											
ABCC1	4363	broad.mit.edu	37	chr16	16103674	16103674	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgtctgctgggcagacctCttctactctttctgggaaag	7	13	10	11	1	5	1	0	0	5	1	6	2	5	2	1	2	2	2	1	2	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:16103674C>G	ENST00000399408.2	+	3	442	c.267C>G	c.(265-267)ctC>ctG	p.L89L	ABCC1_ENST00000351154.5_Silent_p.L89L|ABCC1_ENST00000349029.5_Silent_p.L89L|ABCC1_ENST00000346370.5_Silent_p.L89L|ABCC1_ENST00000399410.3_Silent_p.L89L|ABCC1_ENST00000345148.5_Silent_p.L89L			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	89					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	p.L89L(1)		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)	GGGCAGACCTCTTCTACTCTT	0.552													20	144					0	0	0	0	G	16103674	C	G	16103674	2	3	87	1	0	0	0	0	0	0	0	1	49	900	32	2		2	ABCC1	16	16103674	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	12324772	16103674	74251079	393	16931											
PALB2	79728	broad.mit.edu	37	chr16	23625399	23625399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctttttcaggagttgacCagtttttaaattccttagat	10	18	6	7	0	2	2	1	1	1	1	3	3	3	3	2	1	0	2	2	1	3	8			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:23625399C>A	ENST00000261584.4	-	11	3279	c.3127G>T	c.(3127-3129)Ggt>Tgt	p.G1043C	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1043	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AGGAGTTGACCAGTTTTTAAA	0.343			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					3	31					0.004672	0.00476575	1	0	A	23625399	C	A	23625399	3	1	87	1	0	0	0	0	1	0	0	0	11477	594	21	4	445	4	PALB2	16	23625399	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	7521725	23625399	66729354	394	16932											
GTF3C1	2975	broad.mit.edu	37	chr16	27539953	27539953	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaggtccacattcagggtgGatctcttgcaagcgaagaga	12	8	12	9	1	2	1	1	0	1	1	4	4	3	2	1	3	2	1	1	3	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:27539953G>A	ENST00000356183.4	-	6	954	c.939C>T	c.(937-939)atC>atT	p.I313I	GTF3C1_ENST00000561623.1_Silent_p.I313I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	313						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ATTCAGGGTGGATCTCTTGCA	0.507													15	126					0	0	0	0	A	27539953	G	A	27539953	2	1	87	1	0	0	0	0	0	0	0	1	6922	1164	41	2		2	GTF3C1	16	27539953	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3914554	27539953	62814800	395	16933											
SETD1A	9739	broad.mit.edu	37	chr16	30974857	30974857	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgagaagttccaaggctcGggtgcagccactgagacggt	10	7	15	9	2	0	2	0	2	0	2	2	4	1	2	2	3	2	3	2	3	2	1	rs141357385	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:30974857G>A	ENST00000262519.8	+	5	1307	c.621G>A	c.(619-621)tcG>tcA	p.S207S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCAAGGCTCGGGTGCAGCCA	0.572													9	93					0	0	0	0	A	30974857	G	A	30974857	2	1	87	1	0	0	0	0	0	0	0	1	14217	1103	39	1		1	SETD1A	16	30974857	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3434904	30974857	59379896	396	16934											
VPS35	55737	broad.mit.edu	37	chr16	46712964	46712964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttctcttttttctctatctCggctatgtccctgatgctgc	3	19	7	12	1	3	1	0	1	3	0	7	1	4	1	1	1	2	3	1	1	2	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:46712964C>T	ENST00000299138.7	-	6	669	c.611G>A	c.(610-612)cGa>cAa	p.R204Q		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	204					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTCTCTATCTCGGCTATGTCC	0.433													7	63					0	0	0	0	T	46712964	C	T	46712964	3	4	87	1	0	0	0	0	1	0	0	0	17299	884	31	1	1827	1	VPS35	16	46712964	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	15738107	46712964	43641789	397	16935											
MYLK3	91807	broad.mit.edu	37	chr16	46781826	46781826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggccctcaccagctccaGgacctcgggccacccagcct	7	5	9	20	1	1	0	1	0	0	0	3	1	2	1	7	3	2	1	7	3	0	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:46781826G>T	ENST00000394809.4	-	1	395	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	94					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ACCAGCTCCAGGACCTCGGGC	0.716													3	33					0.115264	0.116025	1	0	T	46781826	G	T	46781826	3	4	87	1	0	0	0	0	1	0	0	0	10128	991	35	4	2231	4	MYLK3	16	46781826	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	68862	46781826	43572927	398	16936											
PAPD5	64282	broad.mit.edu	37	chr16	50261849	50261849	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtatccttggagtcctctCaggcagttgggaaaatgcaa	11	11	11	8	0	1	0	1	0	1	0	4	2	3	2	2	3	1	4	2	3	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:50261849C>G	ENST00000357464.3	+	12	1618	c.1618C>G	c.(1618-1620)Cag>Gag	p.Q540E	PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Missense_Mutation_p.Q619E|PAPD5_ENST00000561678.1_Missense_Mutation_p.Q509E			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	493					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	p.Q619*(1)		endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GGAGTCCTCTCAGGCAGTTGG	0.488													4	43					0	0	0	0	G	50261849	C	G	50261849	3	3	87	1	0	0	0	0	1	0	0	0	11496	827	29	2	1901	2	PAPD5	16	50261849	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	3480023	50261849	40092904	399	16937											
SALL1	6299	broad.mit.edu	37	chr16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-																															gaggagctgccgccgccgccGctgctgctgctgctgctgct																								rs13336129	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:51175656_51175658delGCT	ENST00000440970.1	-	2	615_617	c.184_186delAGC	c.(184-186)del	p.S62del	SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631													9	50	---	---	---	---					-	51175658	GCT	-	51175656	7	5	87	1	0	1	0	1	0	0	0	0	13895	1078	38	0	3505	0	SALL1	16	51175656	In_Frame_Del	DEL	GCT	TCGA-CN-5369-01A-01D-1434-08	913807	51175656	39179097	400	16938											
IRX5	10265	broad.mit.edu	37	chr16	54966679	54966680	+	Frame_Shift_Del	DEL	AG	AG	-																															gcgcgccggcgcctcaagaaAgagaataaaatgacgtggac																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:54966679_54966680delAG	ENST00000394636.4	+	2	856_857	c.519_520delAG	c.(517-522)aaagfs	p.KE173fs	IRX5_ENST00000558597.1_Frame_Shift_Del_p.KE107fs|IRX5_ENST00000320990.5_Frame_Shift_Del_p.KE173fs|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	173					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCCTCAAGAAAGAGAATAAAAT	0.599													14	132	---	---	---	---					-	54966680	AG	-	54966679	7	5	87	1	0	1	0	1	0	0	0	0	7900	69	3	0	525	0	IRX5	16	54966679	Frame_Shift_Del	DEL	AG	TCGA-CN-5369-01A-01D-1434-08	3791023	54966679	35388074	401	16939											
GPR114	221188	broad.mit.edu	37	chr16	57597804	57597804	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgccatgcagttcccCgccgagctgacccgggacgc	7	4	12	18	5	0	1	0	1	0	0	1	3	1	2	5	1	3	4	5	1	0	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:57597804C>A	ENST00000340339.4	+	5	865	c.342C>A	c.(340-342)ccC>ccA	p.P114P	GPR114_ENST00000349457.3_Silent_p.P114P|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	114					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P114P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TGCAGTTCCCCGCCGAGCTGA	0.622													13	80					0.0135373	0.01374	1	0	A	57597804	C	A	57597804	2	1	87	1	0	0	0	0	0	0	0	1	6680	639	23	3		3	GPR114	16	57597804	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2631125	57597804	32756949	402	16940											
CDH8	1006	broad.mit.edu	37	chr16	62055216	62055216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacttgagactgattcatcGgagccatgtaaatgcaaggg	14	9	11	7	1	1	2	1	2	0	1	2	4	1	3	1	2	3	2	1	2	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:62055216G>T	ENST00000577390.1	-	2	1046	c.92C>A	c.(91-93)cCg>cAg	p.P31Q	CDH8_ENST00000584337.1_Missense_Mutation_p.P31Q|CDH8_ENST00000299345.6_Missense_Mutation_p.P31Q|CDH8_ENST00000577730.1_Missense_Mutation_p.P31Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	31					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTGATTCATCGGAGCCATGTA	0.458													7	88					5.18039e-06	5.59299e-06	1	0	T	62055216	G	T	62055216	3	4	87	1	0	0	0	0	1	0	0	0	3145	1116	39	3	2351	3	CDH8	16	62055216	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	4457412	62055216	28299537	403	16941											
CMTM2	146225	broad.mit.edu	37	chr16	66613547	66613547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaagggggccaagccagagCcagcaccagctccacctcca	12	2	10	17	0	0	1	0	0	0	1	2	1	2	1	7	2	4	2	7	2	2	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:66613547C>T	ENST00000268595.2	+	1	188	c.37C>T	c.(37-39)Cca>Tca	p.P13S	CMTM2_ENST00000379486.2_Missense_Mutation_p.P13S	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	13					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		CAAGCCAGAGCCAGCACCAGC	0.587													6	70					0	0	0	0	T	66613547	C	T	66613547	3	4	87	1	0	0	0	0	1	0	0	0	3613	739	26	4	39	4	CMTM2	16	66613547	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	4558331	66613547	23741206	404	16942											
FHOD1	29109	broad.mit.edu	37	chr16	67272176	67272176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggcagctcagcccctctGaatgcacaaattcaggcacc	11	7	8	15	0	4	1	3	1	1	0	4	1	4	1	3	2	3	4	3	2	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:67272176G>A	ENST00000258201.4	-	5	723	c.476C>T	c.(475-477)tCa>tTa	p.S159L	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	159	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CAGCCCCTCTGAATGCACAAA	0.597													7	39					0	0	0	0	A	67272176	G	A	67272176	3	1	87	1	0	0	0	0	1	0	0	0	5927	1294	45	2	3090	2	FHOD1	16	67272176	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	658629	67272176	23082577	405	16943											
WWP2	11060	broad.mit.edu	37	chr16	69874159	69874159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcctaatggcagtgccctGacagatggtgagtgccgccc	7	8	14	12	1	0	3	0	2	0	1	0	3	0	3	4	2	3	1	4	2	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:69874159G>A	ENST00000359154.2	+	5	572	c.471G>A	c.(469-471)ctG>ctA	p.L157L	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Silent_p.L157L|WWP2_ENST00000569174.1_Silent_p.L157L|WWP2_ENST00000542271.1_Silent_p.L41L|WWP2_ENST00000448661.1_Silent_p.L157L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	157					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCAGTGCCCTGACAGATGGTG	0.602													10	84					0	0	0	0	A	69874159	G	A	69874159	2	1	87	1	0	0	0	0	0	0	0	1	17512	1277	45	2		2	WWP2	16	69874159	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2601983	69874159	20480594	406	16944											
DDX19B	11269	broad.mit.edu	37	chr16	70367483	70367483	+	Nonstop_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgagaaaatagccaacTgagaagctccaccagccact	16	6	8	11	0	0	3	0	2	0	3	1	5	1	3	4	0	4	1	4	0	5	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:70367483T>G	ENST00000288071.6	+	12	1683	c.1438T>G	c.(1438-1440)Tga>Gga	p.*480G	DDX19B_ENST00000563392.1_Nonstop_Mutation_p.*371G|DDX19B_ENST00000451014.3_Nonstop_Mutation_p.*454G|DDX19B_ENST00000393657.2_Nonstop_Mutation_p.*371G|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Nonstop_Mutation_p.*371G|DDX19B_ENST00000563206.1_Nonstop_Mutation_p.*485G|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000355992.3_Nonstop_Mutation_p.*449G	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	0					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				AATAGCCAACTGAGAAGCTCC	0.537													9	136					0	0	0	0	G	70367483	T	G	70367483	4	3	87	1	0	0	0	0	0	0	0	0	4379	1593	55	5	1484	5	DDX19B	16	70367483	Nonstop_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	493324	70367483	19987270	407	16945											
WDR59	79726	broad.mit.edu	37	chr16	74951881	74951881	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctgatcccgggaccaCgtcaccagttgatagtcctt	9	10	10	12	2	2	2	1	2	1	0	4	3	4	3	4	2	0	1	4	2	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:74951881C>T	ENST00000262144.6	-	11	1042	c.912G>A	c.(910-912)acG>acA	p.T304T		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	304										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCCGGGACCACGTCACCAGTT	0.463													9	95					0	0	0	0	T	74951881	C	T	74951881	2	4	87	1	0	0	0	0	0	0	0	1	17404	523	19	1		1	WDR59	16	74951881	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	4584398	74951881	15402872	408	16946											
BCAR1	9564	broad.mit.edu	37	chr16	75268875	75268875	+	Frame_Shift_Del	DEL	G	G	-																															agtcctgggaggtgaacttaGggggtgagggcaggggtcgt																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:75268875delG	ENST00000546196.1	-	5	3487	c.1835delC	c.(1834-1836)ctfs	p.P612fs	BCAR1_ENST00000418647.3_Frame_Shift_Del_p.P687fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.P641fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.P639fs|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000162330.5_Frame_Shift_Del_p.P641fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.P493fs			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	641	Ser-rich.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTGAACTTAGGGGGTGAGGG	0.657													10	76	---	---	---	---					-	75268875	G	-	75268875	7	5	87	1	0	1	0	1	0	0	0	0	1352	1000	35	0	702	0	BCAR1	16	75268875	Frame_Shift_Del	DEL	G	TCGA-CN-5369-01A-01D-1434-08	316994	75268875	15085878	409	16947											
CHST6	4166	broad.mit.edu	37	chr16	75513534	75513534	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctccattaggtagaagacgtCggggtgctggttgaagagtt	9	11	15	6	2	0	4	0	1	0	3	2	4	1	4	1	4	1	4	1	4	4	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:75513534C>G	ENST00000332272.4	-	3	372	c.193G>C	c.(193-195)Gac>Cac	p.D65H	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.D65H	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	65					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TAGAAGACGTCGGGGTGCTGG	0.687													4	43					0	0	0	0	G	75513534	C	G	75513534	3	3	87	1	0	0	0	0	1	0	0	0	3437	884	31	3	998	3	CHST6	16	75513534	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	244659	75513534	14841219	410	16948											
CHST5	23563	broad.mit.edu	37	chr16	75563209	75563209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatcttagtgaagggcaaCgcgtggcgccaggcctggga	9	6	17	9	3	1	1	0	1	1	0	1	3	1	3	2	5	1	1	2	5	3	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:75563209C>T	ENST00000336257.3	-	3	2468	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.A364A	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	358					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TGAAGGGCAACGCGTGGCGCC	0.652													9	73					0	0	0	0	T	75563209	C	T	75563209	2	4	87	1	0	0	0	0	0	0	0	1	3436	523	19	1		1	CHST5	16	75563209	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	49675	75563209	14791544	411	16949											
OSGIN1	29948	broad.mit.edu	37	chr16	83999318	83999318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggccgtgttccaggacctCgagggtgtcgagaaggtgtt	7	9	16	9	3	0	1	0	0	0	1	3	4	1	2	3	4	0	2	3	4	1	2	rs149907599	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:83999318C>T	ENST00000343939.2	+	7	1772	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	OSGIN1_ENST00000361711.3_Silent_p.L380L|OSGIN1_ENST00000393306.1_Silent_p.L380L			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	463					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TCCAGGACCTCGAGGGTGTCG	0.642													4	52					0	0	0	0	T	83999318	C	T	83999318	2	4	87	1	0	0	0	0	0	0	0	1	11360	871	31	1		1	OSGIN1	16	83999318	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	8436109	83999318	6355435	412	16950											
CTU2	348180	broad.mit.edu	37	chr16	88778042	88778042	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctgcttctccctctaGggcctgagccaagattctgc	5	11	9	16	0	3	2	0	1	3	1	4	2	3	2	4	1	4	2	4	1	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:88778042G>T	ENST00000567949.1	+	5	291		c.e5-1		CTU2_ENST00000312060.5_Splice_Site|CTU2_ENST00000453996.2_Splice_Site|CTU2_ENST00000378384.3_Splice_Site			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)						tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						TCTCCCTCTAGGGCCTGAGCC	0.527													5	59					0.000602214	0.000622628	1	0	T	88778042	G	T	88778042	5	4	87	1	0	0	0	0	0	0	1	0	4080	1014	35	4	300	4	CTU2	16	88778042	Splice_Site	SNP	G	TCGA-CN-5369-01A-01D-1434-08	4778724	88778042	1576711	413	16951											
CDH15	1013	broad.mit.edu	37	chr16	89254679	89254679	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagaccaacgagggtgttCtgtccattgtgaaggtgagc	10	9	13	9	1	1	3	0	2	1	1	2	4	2	3	3	2	2	1	3	2	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:89254679C>T	ENST00000289746.2	+	7	1029	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	322	Cadherin 3.				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)		CGAGGGTGTTCTGTCCATTGT	0.637													3	27					0	0	0	0	T	89254679	C	T	89254679	2	4	87	1	0	0	0	0	0	0	0	1	3129	912	32	2		2	CDH15	16	89254679	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	476637	89254679	1100074	414	16952											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2867170	2867170	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtggagaagggaggcccGtaccctcaggtcatcctgcc	7	8	14	12	1	2	1	2	0	0	1	3	3	3	2	4	4	2	2	4	4	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:2867170G>A	ENST00000254695.8	+	7	390	c.300G>A	c.(298-300)ccG>ccA	p.P100P	CTD-3060P21.1_ENST00000574885.1_RNA|RAP1GAP2_ENST00000540393.2_Silent_p.P81P|RAP1GAP2_ENST00000366401.4_Silent_p.P85P|RAP1GAP2_ENST00000542807.1_Silent_p.P100P	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	100					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	p.P100P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						AGGGAGGCCCGTACCCTCAGG	0.672													5	24					0	0	0	0	A	2867170	G	A	2867170	2	1	87	1	0	0	0	0	0	0	0	1	13120	1132	40	1		1	RAP1GAP2	17	2867170	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08		2867170	78328040	415	16953											
ZZEF1	23140	broad.mit.edu	37	chr17	3961447	3961447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggataaggcagggagcaagGacctaaagggccatgaaagt	16	4	15	6	0	0	1	0	1	0	0	0	4	0	4	2	5	1	2	2	5	5	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:3961447G>A	ENST00000381638.2	-	32	5130	c.5006C>T	c.(5005-5007)tCc>tTc	p.S1669F		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1669							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGGGAGCAAGGACCTAAAGGG	0.468													3	34					0	0	0	0	A	3961447	G	A	3961447	3	1	87	1	0	0	0	0	1	0	0	0	18346	1174	41	2	3975	2	ZZEF1	17	3961447	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1094277	3961447	77233763	416	16954											
ANKFY1	51479	broad.mit.edu	37	chr17	4088250	4088250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggcagagcttcctccGtctgcaggtttgggttggcg	5	10	16	10	2	1	2	0	0	1	2	3	2	3	2	2	4	2	6	2	4	0	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:4088250G>A	ENST00000341657.4	-	12	1597	c.1562C>T	c.(1561-1563)aCg>aTg	p.T521M	ANKFY1_ENST00000570535.1_Missense_Mutation_p.T563M|ANKFY1_ENST00000574367.1_Missense_Mutation_p.T521M|ANKFY1_ENST00000573722.1_5'UTR|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	521						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AGCTTCCTCCGTCTGCAGGTT	0.622													6	59					0	0	0	0	A	4088250	G	A	4088250	3	1	87	1	0	0	0	0	1	0	0	0	626	1145	40	1	2006	1	ANKFY1	17	4088250	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	126803	4088250	77106960	417	16955											
ACADVL	37	broad.mit.edu	37	chr17	7127027	7127027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacttccagatagaggccgCcatcagcaaaatctttggct	11	9	10	11	1	2	2	1	0	1	2	3	3	3	3	3	3	1	2	3	3	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:7127027C>T	ENST00000356839.5	+	12	1426	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V	ACADVL_ENST00000350303.5_Missense_Mutation_p.A394V|ACADVL_ENST00000543245.2_Missense_Mutation_p.A439V	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	416	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						ATAGAGGCCGCCATCAGCAAA	0.532													10	101					0	0	0	0	T	7127027	C	T	7127027	3	4	87	1	0	0	0	0	1	0	0	0	116	739	26	4	1293	4	ACADVL	17	7127027	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	3038777	7127027	74068183	418	16956											
NEURL4	84461	broad.mit.edu	37	chr17	7227188	7227188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacagttgtggcggagggCggtgcggcccccgttagtga	5	7	19	10	5	0	1	0	1	0	0	0	3	0	2	2	5	1	2	2	5	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:7227188C>T	ENST00000399464.2	-	12	2221	c.2206G>A	c.(2206-2208)Gcc>Acc	p.A736T	NEURL4_ENST00000315614.7_Missense_Mutation_p.A736T|NEURL4_ENST00000570460.1_Missense_Mutation_p.A714T	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGCGGAGGGCGGTGCGGCCC	0.622											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	89					0	0	0	0	T	7227188	C	T	7227188	3	4	87	1	0	0	0	0	1	0	0	0	10417	768	27	1	2554	1	NEURL4	17	7227188	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	100161	7227188	73968022	419	16957											
DNAH2	146754	broad.mit.edu	37	chr17	7701100	7701100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagtataacctgtcaccctCtgtcgtgcccatgcagctag	8	11	9	13	1	2	1	1	1	1	0	3	1	2	1	3	0	4	3	3	0	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:7701100C>G	ENST00000572933.1	+	53	9643	c.8183C>G	c.(8182-8184)tCt>tGt	p.S2728C	DNAH2_ENST00000389173.2_Missense_Mutation_p.S2728C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2728	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGTCACCCTCTGTCGTGCCC	0.522													12	117					0	0	0	0	G	7701100	C	G	7701100	3	3	87	1	0	0	0	0	1	0	0	0	4639	913	32	2	8389	2	DNAH2	17	7701100	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	473912	7701100	73494110	420	16958											
MYH2	4620	broad.mit.edu	37	chr17	10430045	10430045	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggattcctgctcctcctcaTactgttcccgcagcaggtca	6	12	8	15	1	2	0	2	0	0	0	6	1	6	1	4	2	3	4	4	2	1	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:10430045T>C	ENST00000245503.5	-	30	4442	c.4058A>G	c.(4057-4059)tAt>tGt	p.Y1353C	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Y1353C	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1353					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCTCCTCATACTGTTCCCG	0.582													14	107					0	0	0	0	C	10430045	T	C	10430045	3	2	87	1	0	0	0	0	1	0	0	0	10105	1406	49	5	1811	5	MYH2	17	10430045	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	2728945	10430045	70765165	421	16959											
MYH3	4621	broad.mit.edu	37	chr17	10541713	10541713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcgcgcgggtggccctctCcgcctctatctcctcttcca	2	12	8	19	4	4	0	0	0	4	0	8	0	5	0	5	2	0	0	5	2	1	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:10541713C>T	ENST00000583535.1	-	27	3463	c.3376G>A	c.(3376-3378)Gag>Aag	p.E1126K	MYH3_ENST00000226209.7_Missense_Mutation_p.E1126K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1126					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTGGCCCTCTCCGCCTCTATC	0.657													7	29					0	0	0	0	T	10541713	C	T	10541713	3	4	87	1	0	0	0	0	1	0	0	0	10106	864	30	2	2506	2	MYH3	17	10541713	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	111668	10541713	70653497	422	16960											
DNAH9	1770	broad.mit.edu	37	chr17	11872838	11872838	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagtagccttgcttctccaGatttagcatcctgcagagcc	8	11	10	12	0	1	2	0	0	1	2	3	3	2	3	4	1	5	4	4	1	2	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:11872838G>C	ENST00000262442.3	+	69	13523	c.13455G>C	c.(13453-13455)caG>caC	p.Q4485H	DNAH9_ENST00000396001.2_Missense_Mutation_p.Q797H|DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4409H|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4485					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCTTCTCCAGATTTAGCATC	0.527													5	16					0	0	0	0	C	11872838	G	C	11872838	3	2	87	1	0	0	0	0	1	0	0	0	4644	933	33	2	13729	2	DNAH9	17	11872838	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1331125	11872838	69322372	423	16961											
TOP3A	7156	broad.mit.edu	37	chr17	18198093	18198093	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttcgagaagccagcttctCaagctcctgtgaaatgggtc	9	11	10	11	1	1	2	1	1	1	1	5	3	2	2	2	1	3	2	2	1	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:18198093C>G	ENST00000321105.5	-	10	1211	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Missense_Mutation_p.E238Q	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	333					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GCCAGCTTCTCAAGCTCCTGT	0.448													4	38					0	0	0	0	G	18198093	C	G	18198093	3	3	87	1	0	0	0	0	1	0	0	0	16462	835	29	2	2048	2	TOP3A	17	18198093	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	6325255	18198093	62997117	424	16962											
SLC13A2	9058	broad.mit.edu	37	chr17	26820669	26820669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatccagaccgagcacaGgctgctgggccccatgacct	8	6	11	16	2	1	2	1	1	0	1	2	3	2	2	5	2	2	3	5	2	0	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:26820669G>T	ENST00000444914.3	+	7	1526	c.1106G>T	c.(1105-1107)aGg>aTg	p.R369M	SLC13A2_ENST00000545060.1_Missense_Mutation_p.R277M|SLC13A2_ENST00000314669.5_Missense_Mutation_p.R320M|SLC13A2_ENST00000537681.1_Missense_Mutation_p.R249M	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	320						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ACCGAGCACAGGCTGCTGGGC	0.587													6	47					0.248553	0.248961	1	0	T	26820669	G	T	26820669	3	4	87	1	0	0	0	0	1	0	0	0	14480	1000	35	4	1132	4	SLC13A2	17	26820669	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	8622576	26820669	54374541	425	16963											
SSH2	85464	broad.mit.edu	37	chr17	27963208	27963208	+	Frame_Shift_Del	DEL	A	A	-																															acaaacttctctagggcactAaaaaagtcaatgcgatctgt																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:27963208delA	ENST00000269033.3	-	14	2110	c.1959delT	c.(1957-1959)ttfs	p.F653fs	SSH2_ENST00000540801.1_Frame_Shift_Del_p.F680fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	653					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTAGGGCACTAAAAAAGTCAA	0.502													13	111	---	---	---	---					-	27963208	A	-	27963208	7	5	87	1	0	1	0	1	0	0	0	0	15275	359	13	0	2320	0	SSH2	17	27963208	Frame_Shift_Del	DEL	A	TCGA-CN-5369-01A-01D-1434-08	1142539	27963208	53232002	426	16964											
ATAD5	79915	broad.mit.edu	37	chr17	29206468	29206468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttagtttaatgtttgatgGctgctttgaagaaatcaagt	12	17	9	3	0	1	3	1	2	0	1	1	3	1	3	0	1	1	4	0	1	5	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:29206468G>A	ENST00000321990.4	+	18	4418	c.4040G>A	c.(4039-4041)gGc>gAc	p.G1347D		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1347					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATGTTTGATGGCTGCTTTGAA	0.294													7	53					0	0	0	0	A	29206468	G	A	29206468	3	1	87	1	0	0	0	0	1	0	0	0	1080	1203	42	4	4110	4	ATAD5	17	29206468	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1243260	29206468	51988742	427	16965											
MRM1	79922	broad.mit.edu	37	chr17	34964340	34964340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccacgccctgcagggaatGagggctcaggtctatcccag	8	6	12	15	1	2	1	1	1	1	0	3	2	3	2	4	3	1	2	4	3	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:34964340G>A	ENST00000250156.7	+	4	1014	c.775G>A	c.(775-777)Gag>Aag	p.E259K	MRM1_ENST00000585770.1_Missense_Mutation_p.E64K	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	259					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGCAGGGAATGAGGGCTCAGG	0.617													8	68					0	0	0	0	A	34964340	G	A	34964340	3	1	87	1	0	0	0	0	1	0	0	0	9841	1291	45	2	789	2	MRM1	17	34964340	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	5757872	34964340	46230870	428	16966											
IKZF3	22806	broad.mit.edu	37	chr17	37922297	37922297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcgggggcttgaggagttCgtaagagcggggaacctcct	7	7	19	8	3	0	2	0	1	0	1	2	4	1	4	2	6	2	3	2	6	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:37922297C>T	ENST00000346872.3	-	8	1337	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	IKZF3_ENST00000377944.3_Missense_Mutation_p.E283K|IKZF3_ENST00000377945.3_Missense_Mutation_p.E292K|IKZF3_ENST00000439016.2_Missense_Mutation_p.E331K|IKZF3_ENST00000583368.1_Missense_Mutation_p.E179K|IKZF3_ENST00000346243.3_Missense_Mutation_p.E348K|IKZF3_ENST00000351680.3_Missense_Mutation_p.E387K|IKZF3_ENST00000535189.1_Missense_Mutation_p.E392K|IKZF3_ENST00000377952.2_Missense_Mutation_p.E205K|IKZF3_ENST00000439167.2_Missense_Mutation_p.E353K|IKZF3_ENST00000394189.2_Missense_Mutation_p.E244K|IKZF3_ENST00000467757.1_Missense_Mutation_p.E370K|IKZF3_ENST00000377958.2_Missense_Mutation_p.E339K|IKZF3_ENST00000350532.3_Missense_Mutation_p.E387K	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	426					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTGAGGAGTTCGTAAGAGCGG	0.552													13	149					0	0	0	0	T	37922297	C	T	37922297	3	4	87	1	0	0	0	0	1	0	0	0	7669	893	31	1	257	1	IKZF3	17	37922297	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2957957	37922297	43272913	429	16967											
WNK4	65266	broad.mit.edu	37	chr17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-																															accctgcccttcagccccctGggggggtgccatccagcctg																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:40939870delG	ENST00000246914.5	+	8	1837	c.1816delG	c.(1816-1818)ggfs	p.G607fs	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	607					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCAGCCCCCTGGGGGGGTGCC	0.637													11	77	---	---	---	---					-	40939870	G	-	40939870	7	5	87	1	0	1	0	1	0	0	0	0	17476	1348	47	0	1846	0	WNK4	17	40939870	Frame_Shift_Del	DEL	G	TCGA-CN-5369-01A-01D-1434-08	3017573	40939870	40255340	430	16968											
RPRML	388394	broad.mit.edu	37	chr17	45056080	45056080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgcaccagaaagttgatCatgctctcggacttgatgag	10	11	10	10	1	2	4	1	3	1	1	4	5	3	5	2	1	2	3	2	1	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:45056080C>G	ENST00000322329.3	-	1	534	c.294G>C	c.(292-294)atG>atC	p.M98I	GOSR2_ENST00000439730.2_Intron|RP11-156P1.2_ENST00000571841.1_Intron|LRRC37A17P_ENST00000570478.1_RNA	NM_203400.4	NP_981945.1	Q8N4K4	RPRML_HUMAN	reprimo-like	98						integral to membrane				lung(1)	1						GAAAGTTGATCATGCTCTCGG	0.657													4	16					0	0	0	0	G	45056080	C	G	45056080	3	3	87	1	0	0	0	0	1	0	0	0	13704	826	29	2	72	2	RPRML	17	45056080	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	4116210	45056080	36139130	431	16969											
FAM117A	81558	broad.mit.edu	37	chr17	47797166	47797166	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccttcacaaatacctcctCcagctcttggttgagccctt	7	13	5	16	0	2	1	1	1	1	0	5	1	5	1	5	1	3	2	5	1	2	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:47797166C>G	ENST00000240364.2	-	5	743	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	222										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						AATACCTCCTCCAGCTCTTGG	0.637													8	93					0	0	0	0	G	47797166	C	G	47797166	3	3	87	1	0	0	0	0	1	0	0	0	5450	864	30	2	713	2	FAM117A	17	47797166	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2741086	47797166	33398044	432	16970											
C17orf67	339210	broad.mit.edu	37	chr17	54893318	54893318	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtatctgactctgagcGttttagtaatgaccactgaa	12	13	9	7	1	2	4	0	4	2	0	2	5	2	4	1	0	1	3	1	0	5	4	rs117984213	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:54893318G>A	ENST00000397861.2	-	0	1133				C17orf67_ENST00000575658.1_De_novo_Start_OutOfFrame			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67							extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					GACTCTGAGCGTTTTAGTAAT	0.423													3	31					0	0	0	0	A	54893318	G	A	54893318	1	1	87	1	0	0	0	0	0	0	0	0	1890	1160	40	1		1	C17orf67	17	54893318	Translation_Start_Site	SNP	G	TCGA-CN-5369-01A-01D-1434-08	7096152	54893318	26301892	433	16971											
USP32	84669	broad.mit.edu	37	chr17	58303585	58303585	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggctcaattaccacagggTtggcatcctaaaatcaggaa	14	9	9	9	0	2	0	2	0	0	0	3	1	3	1	2	4	1	3	2	4	5	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:58303585T>C	ENST00000300896.4	-	13	1441	c.1247A>G	c.(1246-1248)aAc>aGc	p.N416S	USP32_ENST00000592339.1_Missense_Mutation_p.N86S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	416	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TACCACAGGGTTGGCATCCTA	0.368													7	59					0	0	0	0	C	58303585	T	C	58303585	3	2	87	1	0	0	0	0	1	0	0	0	17159	1725	60	5	3655	5	USP32	17	58303585	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	3410267	58303585	22891625	434	16972											
SMURF2	64750	broad.mit.edu	37	chr17	62543753	62543753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccctgcagaggcactcgaGaggatcctgtcacaaactga	12	6	11	12	1	1	3	1	1	0	2	3	5	2	4	2	2	3	2	2	2	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:62543753G>A	ENST00000262435.9	-	17	2223	c.2036C>T	c.(2035-2037)tCt>tTt	p.S679F		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	679	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AGGCACTCGAGAGGATCCTGT	0.547													5	60					0	0	0	0	A	62543753	G	A	62543753	3	1	87	1	0	0	0	0	1	0	0	0	14908	942	33	2	222	2	SMURF2	17	62543753	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	4240168	62543753	18651457	435	16973											
RECQL5	9400	broad.mit.edu	37	chr17	73625900	73625900	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catagggctgcccatccttgGaggctctgtggatatcggcc	6	10	13	12	1	1	0	0	0	1	0	3	2	2	2	3	5	1	2	3	5	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:73625900G>C	ENST00000317905.5	-	15	1994	c.1835C>G	c.(1834-1836)tCc>tGc	p.S612C	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.S585C	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	612					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCATCCTTGGAGGCTCTGTG	0.622								Other identified genes with known or suspected DNA repair function					5	58					0	0	0	0	C	73625900	G	C	73625900	3	2	87	1	0	0	0	0	1	0	0	0	13285	1174	41	2	1164	2	RECQL5	17	73625900	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	11082147	73625900	7569310	436	16974											
ITGB4	3691	broad.mit.edu	37	chr17	73738804	73738804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcaggcactgccaccctcgGccgccgcctggtaaacatca	8	5	10	18	4	1	0	1	0	0	0	2	0	1	0	5	3	2	3	5	3	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:73738804G>A	ENST00000200181.3	+	25	3111	c.2924G>A	c.(2923-2925)gGc>gAc	p.G975D	ITGB4_ENST00000339591.3_Missense_Mutation_p.G975D|ITGB4_ENST00000579662.1_Missense_Mutation_p.G975D|ITGB4_ENST00000449880.2_Missense_Mutation_p.G975D|ITGB4_ENST00000450894.3_Missense_Mutation_p.G975D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	975					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCACCCTCGGCCGCCGCCTG	0.657													3	33					0	0	0	0	A	73738804	G	A	73738804	3	1	87	1	0	0	0	0	1	0	0	0	7950	1203	42	4	3018	4	ITGB4	17	73738804	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	112904	73738804	7456406	437	16975											
TNRC6C	57690	broad.mit.edu	37	chr17	76046980	76046980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacacttgggggatgggAaaaaaaatggatctggatgg	13	9	16	3	0	1	0	0	0	1	0	1	5	1	5	0	7	0	0	0	7	4	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:76046980A>G	ENST00000335749.4	+	3	2406	c.1837A>G	c.(1837-1839)Aaa>Gaa	p.K613E	TNRC6C_ENST00000588061.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000544502.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000541771.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000588847.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000301624.4_Missense_Mutation_p.K613E	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	613	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522													8	86					0	0	0	0	G	76046980	A	G	76046980	3	3	87	1	0	0	0	0	1	0	0	0	16436	247	9	5	1839	5	TNRC6C	17	76046980	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	2308176	76046980	5148230	438	16976											
GAA	2548	broad.mit.edu	37	chr17	78081373	78081373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctgaacacgacggtggCgcccctgttctttgcggacc	6	8	13	14	4	1	1	0	1	1	0	1	3	1	2	3	4	2	2	3	4	1	2	rs121907944		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:78081373C>T	ENST00000302262.3	+	4	929	c.710C>T	c.(709-711)gCg>gTg	p.A237V	GAA_ENST00000390015.3_Missense_Mutation_p.A237V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	237			A -> V (in GSD2).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ACGACGGTGGCGCCCCTGTTC	0.662													7	125					0	0	0	0	T	78081373	C	T	78081373	3	4	87	1	0	0	0	0	1	0	0	0	6195	768	27	1	720	1	GAA	17	78081373	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2034393	78081373	3113837	439	16977											
TBCD	6904	broad.mit.edu	37	chr17	80763847	80763847	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgaccgaagatgacgaCgaagatgacgacgtcccaga	14	5	11	11	5	0	6	0	3	0	3	2	10	2	6	3	0	0	0	3	0	2	0	rs139258497	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:80763847C>T	ENST00000355528.4	+	10	1177	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D	TBCD_ENST00000539345.2_Silent_p.D349D|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	349					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			aagatgacgacgaagatgacg	0.602													4	43					0	0	0	0	T	80763847	C	T	80763847	2	4	87	1	0	0	0	0	0	0	0	1	15727	535	19	1		1	TBCD	17	80763847	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2682474	80763847	431363	440	16978											
LAMA1	284217	broad.mit.edu	37	chr18	6983142	6983142	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgagcatctctggccagttCctccgattcttcaatcaggc	7	12	9	13	1	4	1	2	1	2	0	7	2	6	1	3	2	1	2	3	2	1	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:6983142C>A	ENST00000389658.3	-	40	5845	c.5752G>T	c.(5752-5754)Gaa>Taa	p.E1918*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1918	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGCCAGTTCCTCCGATTCT	0.498													7	65					0.000274275	0.000288462	1	0	A	6983142	C	A	6983142	4	1	87	1	0	0	0	0	0	1	0	0	8658	864	30	2	3571	2	LAMA1	18	6983142	Nonsense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08		6983142	71094106	441	16979											
CEP192	55125	broad.mit.edu	37	chr18	13095576	13095576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcaaaggtcctcagggttCtcctcttctctcacgggcgg	6	11	11	13	2	6	0	3	0	3	0	9	0	7	0	2	4	0	1	2	4	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:13095576C>T	ENST00000506447.1	+	35	6409	c.6329C>T	c.(6328-6330)tCt>tTt	p.S2110F	CEP192_ENST00000430049.2_Missense_Mutation_p.S1635F|CEP192_ENST00000325971.8_Missense_Mutation_p.S1514F|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1705										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCTCAGGGTTCTCCTCTTCTC	0.507													8	75					0	0	0	0	T	13095576	C	T	13095576	3	4	87	1	0	0	0	0	1	0	0	0	3280	913	32	2	6463	2	CEP192	18	13095576	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	6112434	13095576	64981672	442	16980											
NOL4	8715	broad.mit.edu	37	chr18	31538274	31538274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccgaatcgtcatggtcctCgtggtcatcttcgtcctcat	5	14	8	14	4	4	0	3	0	1	0	10	1	7	0	3	2	0	0	3	2	1	1	rs137958344		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:31538274C>T	ENST00000261592.5	-	7	1462	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	NOL4_ENST00000535475.1_Missense_Mutation_p.E234K|NOL4_ENST00000269185.4_Missense_Mutation_p.E275K|NOL4_ENST00000538587.1_Missense_Mutation_p.E315K|NOL4_ENST00000589544.1_Missense_Mutation_p.E389K|NOL4_ENST00000535384.1_Missense_Mutation_p.E104K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	389						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCATGGTCCTCGTGGTCATCT	0.498													13	154					0	0	0	0	T	31538274	C	T	31538274	3	4	87	1	0	0	0	0	1	0	0	0	10594	893	31	1	771	1	NOL4	18	31538274	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	18442698	31538274	46538974	443	16981											
GALNT1	2589	broad.mit.edu	37	chr18	33269223	33269223	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctggaatggatatttGgggaggagaaaacctagaaa	15	9	14	3	0	0	3	0	1	0	2	0	7	0	6	1	5	2	1	1	5	6	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:33269223G>A	ENST00000269195.5	+	6	1050	c.947G>A	c.(946-948)tGg>tAg	p.W316*	GALNT1_ENST00000537549.1_Nonsense_Mutation_p.W256*	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	316	Catalytic subdomain B.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ATGGATATTTGGGGAGGAGAA	0.333													7	81					0	0	0	0	A	33269223	G	A	33269223	4	1	87	1	0	0	0	0	0	1	0	0	6256	1357	47	4	969	4	GALNT1	18	33269223	Nonsense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1730949	33269223	44808025	444	16982											
ME2	4200	broad.mit.edu	37	chr18	48465980	48465980	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctgtaacacccggcatatTagtgacagtgttttcctaga	10	13	8	10	1	1	2	0	1	1	1	2	2	2	2	2	1	1	3	2	1	4	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:48465980T>C	ENST00000321341.5	+	14	1730	c.1458T>C	c.(1456-1458)atT>atC	p.I486I	ME2_ENST00000382927.3_Intron|ME2_ENST00000585680.1_Intron	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	486					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	CCCGGCATATTAGTGACAGTG	0.299													5	85					0	0	0	0	C	48465980	T	C	48465980	2	2	87	1	0	0	0	0	0	0	0	1	9487	1742	61	5		5	ME2	18	48465980	Silent	SNP	T	TCGA-CN-5369-01A-01D-1434-08	15196757	48465980	29611268	445	16983											
WDR7	23335	broad.mit.edu	37	chr18	54448880	54448880	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtacatagaccacgtCatatcacgtaagagttctca	13	10	6	12	2	4	2	4	0	1	2	5	2	4	2	2	0	1	3	2	0	4	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:54448880C>A	ENST00000254442.3	+	19	3394	c.3183C>A	c.(3181-3183)gtC>gtA	p.V1061V	WDR7_ENST00000357574.3_Silent_p.V1028V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1061										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TAGACCACGTCATATCACGTA	0.453													4	51					0.150653	0.151149	1	0	A	54448880	C	A	54448880	2	1	87	1	0	0	0	0	0	0	0	1	17416	813	29	2		2	WDR7	18	54448880	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	5982900	54448880	23628368	446	16984											
SOCS6	9306	broad.mit.edu	37	chr18	67993105	67993105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagggaagctagcaaacGtgccagatggttcttttctt	11	11	11	8	1	2	2	0	0	2	2	2	3	2	3	1	2	4	3	1	2	4	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:67993105G>A	ENST00000397942.3	+	2	1517	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M	SOCS6_ENST00000582322.1_Missense_Mutation_p.V401M	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	401	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GCTAGCAAACGTGCCAGATGG	0.473													11	90					0	0	0	0	A	67993105	G	A	67993105	3	1	87	1	0	0	0	0	1	0	0	0	15006	1145	40	1	1203	1	SOCS6	18	67993105	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	13544225	67993105	10084143	447	16985											
NFATC1	4772	broad.mit.edu	37	chr18	77170881	77170881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtacgcgtccccccagacGtcgccatggcagtctccctg	5	7	10	19	5	1	1	0	0	1	1	4	1	2	1	6	1	1	2	6	1	1	1	rs146509068		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:77170881G>A	ENST00000253506.5	+	2	975	c.606G>A	c.(604-606)acG>acA	p.T202T	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.T202T|NFATC1_ENST00000592223.1_Silent_p.T189T|NFATC1_ENST00000318065.5_Silent_p.T189T|NFATC1_ENST00000591814.1_Silent_p.T202T|NFATC1_ENST00000586434.1_Silent_p.T189T|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000329101.4_Silent_p.T189T|NFATC1_ENST00000542384.1_Silent_p.T202T|NFATC1_ENST00000427363.2_Silent_p.T202T	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	202	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCCCCCAGACGTCGCCATGGC	0.697													11	101					0	0	0	0	A	77170881	G	A	77170881	2	1	87	1	0	0	0	0	0	0	0	1	10431	1132	40	1		1	NFATC1	18	77170881	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	9177776	77170881	906367	448	16986											
KCNG2	26251	broad.mit.edu	37	chr18	77624217	77624217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcttcgcctgcgtgtccGtgtccttcgtggccgtcacg	2	12	12	15	6	2	0	1	0	1	0	6	0	4	0	4	1	2	1	4	1	0	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:77624217G>A	ENST00000316249.3	+	1	550	c.550G>A	c.(550-552)Gtg>Atg	p.V184M		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	184					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CTGCGTGTCCGTGTCCTTCGT	0.766													3	16					0	0	0	0	A	77624217	G	A	77624217	3	1	87	1	0	0	0	0	1	0	0	0	8081	1145	40	1	552	1	KCNG2	18	77624217	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	453336	77624217	453031	449	16987											
MIER2	54531	broad.mit.edu	37	chr19	308884	308886	+	In_Frame_Del	DEL	GTA	GTA	-																															cgctccgacttcttccacagGtagtagtactcgacacactc																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:308884_308886delGTA	ENST00000264819.4	-	11	1034_1036	c.1024_1026delTAC	c.(1024-1026)del	p.Y342del		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	342	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TCTTCCACAGGTAGTAGTACTCG	0.67													10	93	---	---	---	---					-	308886	GTA	-	308884	7	5	87	1	0	1	0	1	0	0	0	0	9650	1256	44	0	627	0	MIER2	19	308884	In_Frame_Del	DEL	GTA	TCGA-CN-5369-01A-01D-1434-08		308884	58820099	450	16988											
TMPRSS9	360200	broad.mit.edu	37	chr19	2422029	2422030	+	Frame_Shift_Ins	INS	-	-	T																															ccagccccttcccatgtctcINSccccctcgaccacaaggatg																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:2422029_2422030insT	ENST00000332578.3	+	13	2230_2231	c.2230_2231insT	c.(2230-2232)cccfs	p.P744fs		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	744					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TCCCATGTCTCCCCCCTCGACC	0.663													7	102	---	---	---	---					T	2422030	-	T	2422029	7	5	87	1	0	1	1	0	0	0	0	0	16347	855	30	0	2280	0	TMPRSS9	19	2422029	Frame_Shift_Ins	INS	-	TCGA-CN-5369-01A-01D-1434-08	2113145	2422029	56706954	451	16989											
GIPC3	126326	broad.mit.edu	37	chr19	3586543	3586543	+	Frame_Shift_Del	DEL	G	G	-																															gtggacatgcagaagctcctGgggggtcagataggcctgga																								rs8113232	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:3586543delG	ENST00000322315.5	+	2	321	c.276delG	c.(274-276)ctfs	p.L92fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	92										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGCTCCTGGGGGGTCAGA	0.577											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	93	---	---	---	---					-	3586543	G	-	3586543	7	5	87	1	0	1	0	1	0	0	0	0	6445	1335	47	0	282	0	GIPC3	19	3586543	Frame_Shift_Del	DEL	G	TCGA-CN-5369-01A-01D-1434-08	1164514	3586543	55542440	452	16990											
TJP3	27134	broad.mit.edu	37	chr19	3747953	3747953	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacacagacggcgaggggggGccctacacggatgtggatga	10	5	17	9	3	0	2	0	1	0	1	0	5	0	4	1	6	2	0	1	6	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:3747953G>A	ENST00000541714.2	+	19	2946	c.2484G>A	c.(2482-2484)ggG>ggA	p.G828G	TJP3_ENST00000539908.2_Silent_p.G792G|TJP3_ENST00000262968.9_Silent_p.G861G|TJP3_ENST00000382008.3_Silent_p.G842G|TJP3_ENST00000589378.1_Silent_p.G837G|TJP3_ENST00000587686.1_Silent_p.G847G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	842						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGAGGGGGGGCCCTACACGG	0.692													4	26					0	0	0	0	A	3747953	G	A	3747953	2	1	87	1	0	0	0	0	0	0	0	1	16025	1190	42	4		4	TJP3	19	3747953	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	161410	3747953	55381030	453	16991											
FBN3	84467	broad.mit.edu	37	chr19	8181655	8181655	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggccttggtcacaaacGcgggggttctcttcacactc	7	10	11	13	2	3	0	2	0	1	0	5	0	3	0	1	4	1	1	1	4	1	3	rs138173924	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:8181655G>A	ENST00000600128.1	-	29	4029	c.3615C>T	c.(3613-3615)cgC>cgT	p.R1205R	FBN3_ENST00000270509.2_Silent_p.R1205R|FBN3_ENST00000601739.1_Silent_p.R1205R			Q75N90	FBN3_HUMAN	fibrillin 3	1205	EGF-like 17.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTCACAAACGCGGGGGTTCT	0.592													5	78					0	0	0	0	A	8181655	G	A	8181655	2	1	87	1	0	0	0	0	0	0	0	1	5749	1074	38	1		1	FBN3	19	8181655	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	4433702	8181655	50947328	454	16992											
MUC16	94025	broad.mit.edu	37	chr19	8974003	8974003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtccctcagcagggtgatgTactctgaggatgtggggtct	6	12	15	8	0	3	2	1	2	2	0	4	3	4	3	1	4	2	2	1	4	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:8974003T>C	ENST00000397910.4	-	76	42871	c.42668A>G	c.(42667-42669)tAc>tGc	p.Y14223C	MUC16_ENST00000380951.5_Missense_Mutation_p.Y864C|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14286				Missing (in Ref. 3; AAK74120).	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						CAGGGTGATGTACTCTGAGGA	0.517													4	14					0	0	0	0	C	8974003	T	C	8974003	3	2	87	1	0	0	0	0	1	0	0	0	10043	1638	57	5	891	5	MUC16	19	8974003	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	792348	8974003	50154980	455	16993											
ZNF266	10781	broad.mit.edu	37	chr19	9524481	9524481	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagggcctctctccactgtGagttcgtgcatgcttagtaa	8	13	10	10	1	1	1	0	1	1	0	4	1	2	1	2	1	2	4	2	1	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:9524481G>C	ENST00000592904.1	-	5	3196	c.1120C>G	c.(1120-1122)Cac>Gac	p.H374D	ZNF266_ENST00000588221.1_Missense_Mutation_p.H374D|ZNF266_ENST00000592292.1_Missense_Mutation_p.H374D|ZNF266_ENST00000361151.1_Missense_Mutation_p.H374D|ZNF266_ENST00000590306.1_Missense_Mutation_p.H374D|ZNF266_ENST00000361451.2_Missense_Mutation_p.H374D|ZNF266_ENST00000588933.1_Missense_Mutation_p.H374D			Q14584	ZN266_HUMAN	zinc finger protein 266	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TCTCCACTGTGAGTTCGTGCA	0.448													10	103					0	0	0	0	C	9524481	G	C	9524481	3	2	87	1	0	0	0	0	1	0	0	0	17900	1290	45	2	533	2	ZNF266	19	9524481	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	550478	9524481	49604502	456	16994											
DNM2	1785	broad.mit.edu	37	chr19	10893656	10893656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacattggcgtggtgaacCgcagccagaaggatattgag	11	8	14	8	2	0	3	0	2	0	1	0	4	0	4	2	3	3	2	2	3	4	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:10893656C>T	ENST00000314646.5	+	6	873	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	DNM2_ENST00000585892.1_Missense_Mutation_p.R237C|DNM2_ENST00000359692.6_Missense_Mutation_p.R237C|DNM2_ENST00000355667.6_Missense_Mutation_p.R237C|DNM2_ENST00000389253.4_Missense_Mutation_p.R237C|DNM2_ENST00000408974.4_Missense_Mutation_p.R237C			P50570	DYN2_HUMAN	dynamin 2	237					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGTGGTGAACCGCAGCCAGAA	0.597			"F, N, Splice, Mis, O"		ETP ALL								9	49					0	0	0	0	T	10893656	C	T	10893656	3	4	87	1	0	0	0	0	1	0	0	0	4708	652	23	1	731	1	DNM2	19	10893656	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1369175	10893656	48235327	457	16995											
CARM1	10498	broad.mit.edu	37	chr19	11030598	11030598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgctgcattcagggctggtCcacggcctggctttctggtt	4	13	13	11	1	2	0	1	0	1	0	3	0	3	0	2	5	2	5	2	5	0	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:11030598C>T	ENST00000327064.4	+	10	1342	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	CARM1_ENST00000344150.4_Silent_p.V384V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	384					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CAGGGCTGGTCCACGGCCTGG	0.592													4	43					0	0	0	0	T	11030598	C	T	11030598	2	4	87	1	0	0	0	0	0	0	0	1	2680	842	30	2		2	CARM1	19	11030598	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	136942	11030598	48098385	458	16996											
ZNF439	90594	broad.mit.edu	37	chr19	11978597	11978597	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccatgaaagaactcacactgGagagaaaccgtatgaatgta	17	7	9	8	1	1	4	1	2	0	2	1	6	1	5	2	1	2	2	2	1	6	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:11978597G>C	ENST00000304030.2	+	3	913	c.713G>C	c.(712-714)gGa>gCa	p.G238A	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.G102A	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ACTCACACTGGAGAGAAACCG	0.368													16	132					0	0	0	0	C	11978597	G	C	11978597	3	2	87	1	0	0	0	0	1	0	0	0	18006	1174	41	2	723	2	ZNF439	19	11978597	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	947999	11978597	47150386	459	16997											
TNPO2	30000	broad.mit.edu	37	chr19	12826503	12826503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagagctggggcagcagctCgggccacatctgcagctcac	8	5	14	14	1	2	1	1	0	1	1	3	1	2	1	1	3	5	7	1	3	0	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:12826503C>T	ENST00000425528.1	-	6	733	c.376G>A	c.(376-378)Gag>Aag	p.E126K	TNPO2_ENST00000588216.1_Missense_Mutation_p.E126K|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000356861.5_Missense_Mutation_p.E126K|TNPO2_ENST00000450764.2_Missense_Mutation_p.E126K|TNPO2_ENST00000441499.1_Missense_Mutation_p.E126K|TNPO2_ENST00000592287.1_Missense_Mutation_p.E126K			O14787	TNPO2_HUMAN	transportin 2	126					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCAGCAGCTCGGGCCACATC	0.617													3	21					0	0	0	0	T	12826503	C	T	12826503	3	4	87	1	0	0	0	0	1	0	0	0	16430	893	31	1	2397	1	TNPO2	19	12826503	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	847906	12826503	46302480	460	16998											
MAST1	22983	broad.mit.edu	37	chr19	12978714	12978714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcccagctccgaccccgCgggatccctggatgcacggg	5	4	14	18	5	0	0	0	0	0	0	2	3	2	2	6	4	2	2	6	4	0	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:12978714C>T	ENST00000251472.4	+	20	2528	c.2489C>T	c.(2488-2490)gCg>gTg	p.A830V		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	830					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCGACCCCGCGGGATCCCTG	0.711													6	21					0	0	0	0	T	12978714	C	T	12978714	3	4	87	1	0	0	0	0	1	0	0	0	9393	768	27	1	2567	1	MAST1	19	12978714	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	152211	12978714	46150269	461	16999											
BRD4	23476	broad.mit.edu	37	chr19	15374334	15374334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaactcctgagcatcaCggtactcacgggcctccagt	10	7	8	16	2	2	1	2	1	0	0	4	1	4	1	4	2	3	2	4	2	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:15374334C>T	ENST00000263377.2	-	7	1459	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Missense_Mutation_p.R413H|BRD4_ENST00000360016.5_Missense_Mutation_p.R413H	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	413	Bromo 2.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTGAGCATCACGGTACTCACG	0.537			T	C15orf55	lethal midline carcinoma of young people								5	50					0	0	0	0	T	15374334	C	T	15374334	3	4	87	1	0	0	0	0	1	0	0	0	1512	536	19	1	2921	1	BRD4	19	15374334	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2395620	15374334	43754649	462	17000											
MAST3	23031	broad.mit.edu	37	chr19	18242831	18242831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacctgcataactatggcatCgtgcaccgtgacctcaaacc	11	9	7	14	2	1	1	1	1	0	0	2	1	1	1	4	1	5	3	4	1	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:18242831C>T	ENST00000262811.5	+	14	1458	c.1458C>T	c.(1456-1458)atC>atT	p.I486I		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	486	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ACTATGGCATCGTGCACCGTG	0.642													4	40					0	0	0	0	T	18242831	C	T	18242831	2	4	87	1	0	0	0	0	0	0	0	1	9395	874	31	1		1	MAST3	19	18242831	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2868497	18242831	40886152	463	17001											
PDCD2L	84306	broad.mit.edu	37	chr19	34912527	34912527	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaaaggatatttgagtttCagcttatgccagcactggtc	10	12	10	9	0	1	1	1	1	0	0	2	2	1	2	2	2	3	3	2	2	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:34912527C>T	ENST00000246535.3	+	6	948	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	PDCD2L_ENST00000587065.2_5'UTR	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	301						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATTTGAGTTTCAGCTTATGCC	0.453													16	145					0	0	0	0	T	34912527	C	T	34912527	4	4	87	1	0	0	0	0	0	1	0	0	11691	827	29	2	923	2	PDCD2L	19	34912527	Nonsense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	16669696	34912527	24216456	464	17002											
ZNF792	126375	broad.mit.edu	37	chr19	35449519	35449519	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctccagtgtgaactcTccaatgtttaattaggctgg	8	16	8	9	0	3	1	0	1	3	0	5	1	3	1	2	2	1	2	2	2	4	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:35449519T>C	ENST00000404801.1	-	4	1626	c.1240A>G	c.(1240-1242)Aga>Gga	p.R414G	ZNF792_ENST00000605484.1_Missense_Mutation_p.R347G	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTGTGAACTCTCCAATGTTTA	0.448													8	62					0	0	0	0	C	35449519	T	C	35449519	3	2	87	1	0	0	0	0	1	0	0	0	18257	1559	54	5	662	5	ZNF792	19	35449519	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	536992	35449519	23679464	465	17003											
TMEM147	10430	broad.mit.edu	37	chr19	36037660	36037660	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccggcaagggagagtacaaGatcatggttgctgccctggg	9	7	16	9	1	1	2	1	0	0	2	1	3	1	2	2	4	3	4	2	4	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:36037660G>C	ENST00000392204.2	+	3	475	c.147G>C	c.(145-147)aaG>aaC	p.K49N	TMEM147_ENST00000222284.5_Missense_Mutation_p.K98N|TMEM147_ENST00000392205.1_Missense_Mutation_p.K98N	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	98						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GAGAGTACAAGATCATGGTTG	0.582													4	67					0	0	0	0	C	36037660	G	C	36037660	3	2	87	1	0	0	0	0	1	0	0	0	16155	933	33	2	308	2	TMEM147	19	36037660	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	588141	36037660	23091323	466	17004											
PSENEN	55851	broad.mit.edu	37	chr19	36237739	36237739	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcaccatacccctgggCaccccctgacaacttctgca	8	9	5	19	0	2	1	1	1	1	0	3	1	3	1	6	1	3	2	6	1	2	3	rs148274462		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:36237739C>T	ENST00000587708.2	+	4	980	c.297C>T	c.(295-297)ggC>ggT	p.G99G	PSENEN_ENST00000222266.2_Silent_p.G99G|PSENEN_ENST00000591949.1_3'UTR|AC002398.9_ENST00000591613.2_Intron			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit	99					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	aspartic-type endopeptidase activity|protein binding			central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACCCCTGGGCACCCCCTGAC	0.592													8	37					0	0	0	0	T	36237739	C	T	36237739	2	4	87	1	0	0	0	0	0	0	0	1	12731	697	25	4		4	PSENEN	19	36237739	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	200079	36237739	22891244	467	17005											
PLEKHG2	64857	broad.mit.edu	37	chr19	39911453	39911453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacttgggtctcctcgacctCgagatgctagaagttttacc	8	12	9	12	2	1	2	0	0	1	2	4	4	1	2	3	1	2	2	3	1	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:39911453C>G	ENST00000425673.1	+	13	1685	c.1360C>G	c.(1360-1362)Cga>Gga	p.R454G	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R454G|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R454G|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R395G|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R454G			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	454					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCTCGACCTCGAGATGCTAG	0.582													15	102					0	0	0	0	G	39911453	C	G	39911453	3	3	87	1	0	0	0	0	1	0	0	0	12141	876	31	3	1406	3	PLEKHG2	19	39911453	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	3673714	39911453	19217530	468	17006											
DYRK1B	9149	broad.mit.edu	37	chr19	40316612	40316612	+	Frame_Shift_Del	DEL	G	G	-																															acgaccaaggtatcggggctGggggggtaactgggccccgg																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:40316612delG	ENST00000593685.1	-	11	2101	c.1633delC	c.(1633-1635)agfs	p.Q545fs	DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	545					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TATCGGGGCTGGGGGGGTAAC	0.692													7	48	---	---	---	---					-	40316612	G	-	40316612	7	5	87	1	0	1	0	1	0	0	0	0	4891	1357	47	0	260	0	DYRK1B	19	40316612	Frame_Shift_Del	DEL	G	TCGA-CN-5369-01A-01D-1434-08	405159	40316612	18812371	469	17007											
PRX	57716	broad.mit.edu	37	chr19	40901949	40901949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcttcacctctggtgcCttcggaagatgcacgtcggg	6	9	14	12	3	2	1	1	0	1	1	4	2	2	2	2	4	3	3	2	4	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:40901949C>A	ENST00000324001.7	-	7	2580	c.2310G>T	c.(2308-2310)aaG>aaT	p.K770N	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	770	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTCTGGTGCCTTCGGAAGAT	0.592													38	135					2.20474e-14	2.44081e-14	1	0	A	40901949	C	A	40901949	3	1	87	1	0	0	0	0	1	0	0	0	12721	680	24	4	2079	4	PRX	19	40901949	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	585337	40901949	18227034	470	17008											
DEDD2	162989	broad.mit.edu	37	chr19	42713983	42713983	+	Frame_Shift_Del	DEL	G	G	-																															tccgccgctgccgcttggttGggggggagcctgaggggaaa																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:42713983delG	ENST00000595337.1	-	4	545	c.458delC	c.(457-459)cafs	p.P153fs	DEDD2_ENST00000598727.1_Frame_Shift_Del_p.P153fs|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Frame_Shift_Del_p.P148fs|DEDD2_ENST00000596251.1_Frame_Shift_Del_p.P153fs	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	153					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CCGCTTGGTTGGGGGGGAGCC	0.662													7	32	---	---	---	---					-	42713983	G	-	42713983	7	5	87	1	0	1	0	1	0	0	0	0	4417	1348	47	0	530	0	DEDD2	19	42713983	Frame_Shift_Del	DEL	G	TCGA-CN-5369-01A-01D-1434-08	1812034	42713983	16415000	471	17009											
CEACAM1	634	broad.mit.edu	37	chr19	43025447	43025447	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgatcgtcttgactgtggtCctgttgcagccagtgactga	7	13	12	9	1	1	4	0	4	1	0	3	4	2	4	2	1	2	2	2	1	0	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:43025447C>G	ENST00000161559.6	-	4	1064	c.930G>C	c.(928-930)agG>agC	p.R310S	CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403461.1_Missense_Mutation_p.R310S|CEACAM1_ENST00000358394.3_Missense_Mutation_p.R310S|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000599389.1_Missense_Mutation_p.R310S|CEACAM1_ENST00000308072.4_Missense_Mutation_p.R270S|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000352591.5_Missense_Mutation_p.R310S|CEACAM1_ENST00000403444.3_Missense_Mutation_p.R310S|LIPE-AS1_ENST00000594688.1_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	310	Ig-like C2-type 2.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TGACTGTGGTCCTGTTGCAGC	0.448													12	227					0	0	0	0	G	43025447	C	G	43025447	3	3	87	1	0	0	0	0	1	0	0	0	3216	854	30	2	771	2	CEACAM1	19	43025447	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	311464	43025447	16103536	472	17010											
PSG2	5670	broad.mit.edu	37	chr19	43585208	43585208	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatataattatttgaccGtctactacatatgatgtaat	14	16	4	7	1	1	2	0	2	1	0	1	2	1	2	2	0	2	1	2	0	8	9	rs148293206	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:43585208G>A	ENST00000406487.1	-	2	353	c.255C>T	c.(253-255)gaC>gaT	p.D85D		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	85	Ig-like V-type.				cell migration|female pregnancy	extracellular region		p.D85D(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTATTTGACCGTCTACTACAT	0.443													14	363					0	0	0	0	A	43585208	G	A	43585208	2	1	87	1	0	0	0	0	0	0	0	1	12734	1136	40	1		1	PSG2	19	43585208	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	559761	43585208	15543775	473	17011											
IRGQ	126298	broad.mit.edu	37	chr19	44099016	44099016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggaggcgctctagctcctCgcagccgtcgctgctgccgc	3	7	13	18	6	1	0	0	0	1	0	4	1	2	1	4	2	4	5	4	2	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:44099016C>T	ENST00000422989.1	-	2	630	c.475G>A	c.(475-477)Gag>Aag	p.E159K	IRGQ_ENST00000602269.1_Missense_Mutation_p.E159K	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	159							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TCTAGCTCCTCGCAGCCGTCG	0.667													13	24					0	0	0	0	T	44099016	C	T	44099016	3	4	87	1	0	0	0	0	1	0	0	0	7892	893	31	1	1404	1	IRGQ	19	44099016	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	513808	44099016	15029967	474	17012											
PVR	5817	broad.mit.edu	37	chr19	45153219	45153219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcgggatgcccaataCgagccaggtgccagggttcc	7	6	15	13	2	0	0	0	0	0	0	1	2	1	1	5	4	4	1	5	4	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:45153219C>T	ENST00000425690.3	+	3	865	c.566C>T	c.(565-567)aCg>aTg	p.T189M	PVR_ENST00000406449.4_Missense_Mutation_p.T189M|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.T189M|PVR_ENST00000403059.4_Missense_Mutation_p.T189M	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	189	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	p.T189M(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		ATGCCCAATACGAGCCAGGTG	0.632													18	86					0	0	0	0	T	45153219	C	T	45153219	3	4	87	1	0	0	0	0	1	0	0	0	12919	536	19	1	576	1	PVR	19	45153219	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1054203	45153219	13975764	475	17013											
GEMIN7	79760	broad.mit.edu	37	chr19	45593422	45593422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgctccggctgccccgggGccctgatggcttcagccgtg	2	9	15	15	3	1	1	1	1	0	0	2	1	2	1	5	4	3	3	5	4	0	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:45593422G>A	ENST00000270257.4	+	3	297	c.50G>A	c.(49-51)gGc>gAc	p.G17D	CTB-179K24.4_ENST00000586744.1_RNA|GEMIN7_ENST00000391951.2_Missense_Mutation_p.G17D|GEMIN7_ENST00000591747.1_Missense_Mutation_p.G17D|GEMIN7_ENST00000591607.1_Missense_Mutation_p.G17D|CTB-179K24.3_ENST00000586556.1_RNA	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	17					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		CTGCCCCGGGGCCCTGATGGC	0.557													8	153					0	0	0	0	A	45593422	G	A	45593422	3	1	87	1	0	0	0	0	1	0	0	0	6384	1203	42	4	52	4	GEMIN7	19	45593422	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	440203	45593422	13535561	476	17014											
GIPR	2696	broad.mit.edu	37	chr19	46181250	46181250	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctgccgggattaccggctGaggtgagggcatgcgttggg	5	8	19	9	4	0	2	0	2	0	0	0	3	0	3	2	5	3	4	2	5	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:46181250G>A	ENST00000590918.1	+	11	1110	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L	GIPR_ENST00000593127.1_3'UTR|GIPR_ENST00000263281.3_Silent_p.L337L|GIPR_ENST00000304207.8_Silent_p.L301L	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	337				L -> V (in Ref. 2; AAB35419).	generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		ATTACCGGCTGAGGTGAGGGC	0.607													4	63					0	0	0	0	A	46181250	G	A	46181250	2	1	87	1	0	0	0	0	0	0	0	1	6446	1277	45	2		2	GIPR	19	46181250	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	587828	46181250	12947733	477	17015											
STRN4	29888	broad.mit.edu	37	chr19	47231911	47231911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccatccacagtgcaccgccGagggtctggagccccttccc	6	6	10	19	2	1	0	0	0	1	0	3	2	3	1	7	2	2	1	7	2	0	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:47231911G>A	ENST00000391910.3	-	7	1453	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	STRN4_ENST00000263280.6_Missense_Mutation_p.R335W|STRN4_ENST00000539396.1_Missense_Mutation_p.R216W|CTB-174O21.2_ENST00000600716.1_RNA			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	335						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GTGCACCGCCGAGGGTCTGGA	0.612													4	54					0	0	0	0	A	47231911	G	A	47231911	3	1	87	1	0	0	0	0	1	0	0	0	15421	1057	37	1	1323	1	STRN4	19	47231911	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1050661	47231911	11897072	478	17016											
ARHGAP35	2909	broad.mit.edu	37	chr19	47424760	47424760	+	Frame_Shift_Del	DEL	A	A	-																															attttttaaagatgtggtggAaaaaaagaacataatcgagg																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:47424760delA	ENST00000404338.3	+	1	2828	c.2828delA	c.(2827-2829)gafs	p.E943fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	943					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.K945fs*3(1)									GATGTGGTGGAAAAAAAGAAC	0.473													18	139	---	---	---	---					-	47424760	A	-	47424760	7	5	87	1	0	1	0	1	0	0	0	0	6845	246	9	0	2830	0	ARHGAP35	19	47424760	Frame_Shift_Del	DEL	A	TCGA-CN-5369-01A-01D-1434-08	192849	47424760	11704223	479	17017											
EHD2	30846	broad.mit.edu	37	chr19	48244287	48244287	+	Frame_Shift_Del	DEL	G	G	-																															agcaccgaggtgggcgtgcaGgggggcgcttttgagggcac																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:48244287delG	ENST00000263277.3	+	6	1481	c.1230delG	c.(1228-1230)cafs	p.Q410fs	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Frame_Shift_Del_p.Q274fs	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	410					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGGGCGTGCAGGGGGGCGCTT	0.677													8	62	---	---	---	---					-	48244287	G	-	48244287	7	5	87	1	0	1	0	1	0	0	0	0	5014	991	35	0	1248	0	EHD2	19	48244287	Frame_Shift_Del	DEL	G	TCGA-CN-5369-01A-01D-1434-08	819527	48244287	10884696	480	17018											
FCGRT	2217	broad.mit.edu	37	chr19	50017242	50017242	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggcccgcagcagtacctGagctacaatagcctgcgggg	8	6	14	13	2	0	1	0	1	0	0	0	1	0	1	3	3	6	4	3	3	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:50017242G>C	ENST00000221466.5	+	3	663	c.177G>C	c.(175-177)ctG>ctC	p.L59L	FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000596975.1_Silent_p.L59L|FCGRT_ENST00000426395.3_Silent_p.L59L|FCGRT_ENST00000599988.1_Intron	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	59	Alpha-1.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		AGCAGTACCTGAGCTACAATA	0.642													9	82					0	0	0	0	C	50017242	G	C	50017242	2	2	87	1	0	0	0	0	0	0	0	1	5831	1277	45	2		2	FCGRT	19	50017242	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1772955	50017242	9111741	481	17019											
SIGLEC11	114132	broad.mit.edu	37	chr19	50462016	50462016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctccaggaccccggggtctGagggctgggaggggcccacg	5	4	19	13	2	1	1	0	1	1	0	2	3	2	3	4	7	0	2	4	7	0	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:50462016G>A	ENST00000447370.2	-	7	1337	c.1247C>T	c.(1246-1248)tCa>tTa	p.S416L	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.S416L	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	416	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CCCGGGGTCTGAGGGCTGGGA	0.677													12	73					0	0	0	0	A	50462016	G	A	50462016	3	1	87	1	0	0	0	0	1	0	0	0	14395	1294	45	2	869	2	SIGLEC11	19	50462016	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	444774	50462016	8666967	482	17020											
SIGLEC10	89790	broad.mit.edu	37	chr19	51917032	51917032	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgccgggagaacctgggCctcggggtttctgtctgagt	4	11	16	10	2	2	2	0	1	2	1	3	3	2	2	3	4	2	1	3	4	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:51917032C>T	ENST00000353836.5	-	9	1691	c.1470G>A	c.(1468-1470)agG>agA	p.R490R	SIGLEC10_ENST00000442846.3_Silent_p.R342R|SIGLEC10_ENST00000356298.5_Silent_p.R585R|SIGLEC10_ENST00000441969.3_Silent_p.R432R|SIGLEC10_ENST00000436984.2_Silent_p.R442R|SIGLEC10_ENST00000339313.5_Silent_p.R585R|SIGLEC10_ENST00000525998.1_Silent_p.R400R|SIGLEC10_ENST00000439889.2_Silent_p.R527R|SIGLEC10_ENST00000432469.2_Silent_p.R407R	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	585					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGAACCTGGGCCTCGGGGTTT	0.567													7	94					0	0	0	0	T	51917032	C	T	51917032	2	4	87	1	0	0	0	0	0	0	0	1	14394	738	26	4		4	SIGLEC10	19	51917032	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1455016	51917032	7211951	483	17021											
ZNF880	400713	broad.mit.edu	37	chr19	52887776	52887776	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcacaccttgcacgacatCagaaaattcatagtggagag	15	8	9	9	1	2	2	2	0	0	2	2	4	2	2	1	1	2	2	1	1	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:52887776C>T	ENST00000422689.2	+	4	958	c.943C>T	c.(943-945)Cag>Tag	p.Q315*		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	315					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TGCACGACATCAGAAAATTCA	0.423													8	43					0	0	0	0	T	52887776	C	T	52887776	4	4	87	1	0	0	0	0	0	1	0	0	18290	827	29	2	957	2	ZNF880	19	52887776	Nonsense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	970744	52887776	6241207	484	17022											
ZNF600	162966	broad.mit.edu	37	chr19	53270399	53270399	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacaatggcatgtaaggtAttgcttgtgattaaagagct	12	14	10	5	0	1	2	0	1	1	1	1	2	1	2	0	2	3	5	0	2	6	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:53270399A>G	ENST00000338230.3	-	3	877	c.610T>C	c.(610-612)Tac>Cac	p.Y204H		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CATGTAAGGTATTGCTTGTGA	0.398													13	238					0	0	0	0	G	53270399	A	G	53270399	3	3	87	1	0	0	0	0	1	0	0	0	18125	449	16	5	1562	5	ZNF600	19	53270399	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	382623	53270399	5858584	485	17023											
ZNF468	90333	broad.mit.edu	37	chr19	53344521	53344521	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtatagtatgttttgcCagatatgaattatatgcgaa	14	15	9	3	1	0	3	0	2	0	1	0	4	0	3	1	0	2	3	1	0	9	8			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:53344521C>A	ENST00000595646.1	-	4	1146	c.1026G>T	c.(1024-1026)ctG>ctT	p.L342L	ZNF468_ENST00000390651.4_Silent_p.L289L|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000396409.4_Silent_p.L289L|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TATGTTTTGCCAGATATGAAT	0.383													11	157					3.86212e-05	4.12591e-05	1	0	A	53344521	C	A	53344521	2	1	87	1	0	0	0	0	0	0	0	1	18023	581	21	4		4	ZNF468	19	53344521	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	74122	53344521	5784462	486	17024											
LILRA2	11027	broad.mit.edu	37	chr19	55086049	55086049	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggagctggtggtgacaGgtgagaggacactcaggagt	9	7	17	8	0	1	2	1	2	0	1	1	6	1	5	1	6	1	1	1	6	0	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:55086049G>T	ENST00000251377.3	+	4	485	c.352_splice	c.e4+1	p.G118_splice	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Splice_Site_p.G106_splice|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Splice_Site_p.G118_splice|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Splice_Site_p.G118_splice|LILRA2_ENST00000495786.1_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GGTGGTGACAGGTGAGAGGAC	0.607													7	66					5.18039e-06	5.59299e-06	1	0	T	55086049	G	T	55086049	5	4	87	1	0	0	0	0	0	0	1	0	8839	1014	35	4	362	4	LILRA2	19	55086049	Splice_Site	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1741528	55086049	4042934	487	17025											
NLRP5	126206	broad.mit.edu	37	chr19	56569758	56569758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctttgcctgtcccacgtCtaacttacagataattgggt	8	13	9	11	1	1	1	0	0	1	1	2	1	2	1	3	2	3	0	3	2	3	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:56569758C>G	ENST00000390649.3	+	14	3452	c.3452C>G	c.(3451-3453)tCt>tGt	p.S1151C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1151						mitochondrion|nucleolus	ATP binding	p.S1151C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTCCCACGTCTAACTTACAG	0.483													4	29					0	0	0	0	G	56569758	C	G	56569758	3	3	87	1	0	0	0	0	1	0	0	0	10550	913	32	2	3506	2	NLRP5	19	56569758	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1483709	56569758	2559225	488	17026											
ZNF543	125919	broad.mit.edu	37	chr19	57839434	57839434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaaattcctataaatgtGaggaatgcgggaaagtgttt	16	11	11	3	1	0	2	0	1	0	1	1	4	1	4	1	2	1	1	1	2	7	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:57839434G>A	ENST00000321545.4	+	4	949	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		CTATAAATGTGAGGAATGCGG	0.413													7	128					0	0	0	0	A	57839434	G	A	57839434	3	1	87	1	0	0	0	0	1	0	0	0	18071	1291	45	2	618	2	ZNF543	19	57839434	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1269676	57839434	1289549	489	17027											
ZNF530	348327	broad.mit.edu	37	chr19	58118566	58118566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgggaaatcttttacccGcaaaaatcacctcattcaac	14	11	5	11	1	4	0	3	0	1	0	4	1	4	1	2	1	2	1	2	1	5	3	rs138050368	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:58118566G>A	ENST00000332854.6	+	3	1893	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R558H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCTTTTACCCGCAAAAATCAC	0.453													8	87					0	0	0	0	A	58118566	G	A	58118566	3	1	87	1	0	0	0	0	1	0	0	0	18066	1087	38	1	1683	1	ZNF530	19	58118566	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	279132	58118566	1010417	490	17028											
ZNF135	7694	broad.mit.edu	37	chr19	58572993	58572993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagtgggcttcagccaggagGagtgggggcagctgaagcct	8	7	18	8	0	1	1	1	1	0	0	1	3	1	3	2	5	3	3	2	5	2	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:58572993G>A	ENST00000401053.4	+	2	118	c.115G>A	c.(115-117)Gag>Aag	p.E39K	ZNF135_ENST00000511556.1_Missense_Mutation_p.E27K|ZNF135_ENST00000506786.1_5'UTR|ZNF135_ENST00000359978.6_Missense_Mutation_p.E39K|ZNF135_ENST00000313434.5_Missense_Mutation_p.E27K|ZNF135_ENST00000439855.2_Missense_Mutation_p.E27K	NM_001164529.1|NM_007134.1	NP_001158001.1|NP_009065.1	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	27					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGCCAGGAGGAGTGGGGGCA	0.587													5	98					0	0	0	0	A	58572993	G	A	58572993	3	1	87	1	0	0	0	0	1	0	0	0	17820	1175	41	2	158	2	ZNF135	19	58572993	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	454427	58572993	555990	491	17029											
ZSCAN18	65982	broad.mit.edu	37	chr19	58601680	58601680	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgactgtctagccagggacaAggtggctccaaaggagaggt	11	7	15	8	0	1	2	0	1	1	1	2	4	2	3	2	5	1	1	2	5	3	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:58601680A>T	ENST00000240727.6	-	0	354				ZSCAN18_ENST00000600404.1_Silent_p.P41P|ZSCAN18_ENST00000601144.1_De_novo_Start_OutOfFrame|ZSCAN18_ENST00000421612.2_Intron	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCCAGGGACAAGGTGGCTCCA	0.602													4	10					0	0	0	0	T	58601680	A	T	58601680	1	4	87	1	0	0	0	0	0	0	0	0	18322	59	3	5		5	ZSCAN18	19	58601680	Translation_Start_Site	SNP	A	TCGA-CN-5369-01A-01D-1434-08	28687	58601680	527303	492	17030											
ZBTB45	84878	broad.mit.edu	37	chr19	59028991	59028991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagggtctcaagcagagagCgtgagaagttctgcaggtgt	10	9	16	6	1	2	3	1	2	2	2	3	5	2	3	0	2	3	3	0	2	2	1	rs117819245	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:59028991C>T	ENST00000594051.1	-	2	530	c.50G>A	c.(49-51)cGc>cAc	p.R17H	ZBTB45_ENST00000354590.3_Missense_Mutation_p.R17H|ZBTB45_ENST00000600990.1_Missense_Mutation_p.R17H			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AAGCAGAGAGCGTGAGAAGTT	0.592											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	54					0	0	0	0	T	59028991	C	T	59028991	3	4	87	1	0	0	0	0	1	0	0	0	17641	768	27	1	1493	1	ZBTB45	19	59028991	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	427311	59028991	99992	493	17031											
SLC4A11	83959	broad.mit.edu	37	chr20	3214613	3214613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacccctgtcactgtggCggtgaccccttggatggtat	5	10	12	14	2	1	1	1	1	0	0	1	2	1	2	5	4	0	2	5	4	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:3214613C>T	ENST00000380059.3	-	6	789	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	SLC4A11_ENST00000539553.1_Missense_Mutation_p.A187T|SLC4A11_ENST00000380056.3_Missense_Mutation_p.A203T|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	203					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTCACTGTGGCGGTGACCCCT	0.647													11	81					0	0	0	0	T	3214613	C	T	3214613	3	4	87	1	0	0	0	0	1	0	0	0	14740	768	27	1	2128	1	SLC4A11	20	3214613	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08		3214613	59810907	494	17032											
SLC23A2	9962	broad.mit.edu	37	chr20	4843461	4843461	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctcccagcacaggatcCggaagggacgcaaagagggc	12	2	16	11	2	0	1	0	0	0	1	2	4	2	4	2	5	1	3	2	5	2	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:4843461C>T	ENST00000379333.1	-	14	1841	c.1449G>A	c.(1447-1449)ccG>ccA	p.P483P	SLC23A2_ENST00000424750.2_Silent_p.P369P|SLC23A2_ENST00000338244.1_Silent_p.P483P	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	483					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCACAGGATCCGGAAGGGACG	0.557													11	67					0	0	0	0	T	4843461	C	T	4843461	2	4	87	1	0	0	0	0	0	0	0	1	14551	639	23	1		1	SLC23A2	20	4843461	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	1628848	4843461	58182059	495	17033											
EPB41L1	2036	broad.mit.edu	37	chr20	34809829	34809829	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaggatcgagaagcgaaTcatcattactggggatgaag	15	7	13	6	2	2	2	2	1	0	1	3	7	2	4	0	3	2	0	0	3	5	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:34809829T>A	ENST00000338074.2	+	20	2644	c.2483T>A	c.(2482-2484)aTc>aAc	p.I828N	EPB41L1_ENST00000202028.5_Missense_Mutation_p.I726N|EPB41L1_ENST00000373941.1_Missense_Mutation_p.I827N|EPB41L1_ENST00000441639.1_Missense_Mutation_p.I726N|EPB41L1_ENST00000373946.3_Missense_Mutation_p.I648N|EPB41L1_ENST00000373950.2_Missense_Mutation_p.I719N	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	828	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GAGAAGCGAATCATCATTACT	0.542													7	88					0	0	0	0	A	34809829	T	A	34809829	3	1	87	1	0	0	0	0	1	0	0	0	5190	1435	50	5	2557	5	EPB41L1	20	34809829	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	29966368	34809829	28215691	496	17034											
DHX35	60625	broad.mit.edu	37	chr20	37634810	37634810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatagtggccaccaatgtgGcagaaacctctatcacaatc	13	9	8	11	0	2	2	1	1	1	1	3	2	2	2	3	2	1	1	3	2	5	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:37634810G>A	ENST00000252011.3	+	12	1066	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	DHX35_ENST00000373323.4_Missense_Mutation_p.A314T|DHX35_ENST00000373325.2_Missense_Mutation_p.A345T	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	345	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CACCAATGTGGCAGAAACCTC	0.408													25	423					0	0	0	0	A	37634810	G	A	37634810	3	1	87	1	0	0	0	0	1	0	0	0	4545	1203	42	4	1079	4	DHX35	20	37634810	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2824981	37634810	25390710	497	17035											
PI3	5266	broad.mit.edu	37	chr20	43804666	43804666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccccattatcttgatcCggtgcgccatgttgaatccc	6	12	8	15	2	1	2	0	2	1	0	3	2	3	2	6	1	2	1	6	1	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:43804666C>T	ENST00000243924.3	+	2	291	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	82	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TATCTTGATCCGGTGCGCCAT	0.507													10	84					0	0	0	0	T	43804666	C	T	43804666	3	4	87	1	0	0	0	0	1	0	0	0	11942	643	23	1	250	1	PI3	20	43804666	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	6169856	43804666	19220854	498	17036											
SEMG2	6407	broad.mit.edu	37	chr20	43851591	43851591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtatttctatccaaactgaaGagaaaatacatggcaagtct	16	11	7	7	0	2	2	0	1	2	1	3	3	3	2	1	1	2	2	1	1	8	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:43851591G>C	ENST00000372769.3	+	2	1408	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	440	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCAAACTGAAGAGAAAATACA	0.378													11	111					0	0	0	0	C	43851591	G	C	43851591	3	2	87	1	0	0	0	0	1	0	0	0	14132	943	33	2	1324	2	SEMG2	20	43851591	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	46925	43851591	19173929	499	17037											
WFDC3	140686	broad.mit.edu	37	chr20	44404233	44404233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacttttggacaatcacCgccccgccctgtgggaacaa	11	7	9	14	2	1	1	1	0	0	1	1	3	1	3	4	2	2	0	4	2	4	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:44404233C>T	ENST00000243938.4	-	6	585	c.502G>A	c.(502-504)Ggt>Agt	p.G168S	WFDC3_ENST00000372630.2_Missense_Mutation_p.G31S|WFDC3_ENST00000372632.2_Missense_Mutation_p.G74S|WFDC3_ENST00000481847.1_5'UTR	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	168	WAP 4.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGACAATCACCGCCCCGCCCT	0.532													6	83					0	0	0	0	T	44404233	C	T	44404233	3	4	87	1	0	0	0	0	1	0	0	0	17449	652	23	1	201	1	WFDC3	20	44404233	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	552642	44404233	18621287	500	17038											
PREX1	57580	broad.mit.edu	37	chr20	47324916	47324916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagggcactctggaccGcggggtggtctgggtgcttg	3	9	18	11	2	2	0	0	0	2	0	2	1	2	1	2	6	2	3	2	6	0	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:47324916G>A	ENST00000396220.1	-	6	687	c.665C>T	c.(664-666)gCg>gTg	p.A222V	PREX1_ENST00000371941.3_Missense_Mutation_p.A222V			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	222	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACTCTGGACCGCGGGGTGGTC	0.582													15	187					0	0	0	0	A	47324916	G	A	47324916	3	1	87	1	0	0	0	0	1	0	0	0	12556	1087	38	1	4454	1	PREX1	20	47324916	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2920683	47324916	15700604	501	17039											
TMEM189	387521	broad.mit.edu	37	chr20	48744600	48744600	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgacatgccagtcctgcagGagggtgacccagcgtggcag	9	6	15	11	1	0	2	0	2	0	0	1	3	1	3	3	3	3	2	3	3	0	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:48744600G>C	ENST00000557021.1	-	5	763	c.603C>G	c.(601-603)ctC>ctG	p.L201L	TMEM189_ENST00000371650.5_Silent_p.L198L|TMEM189_ENST00000371652.4_Silent_p.L201L|TMEM189_ENST00000371656.2_Silent_p.L126L|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.L201L	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			AGTCCTGCAGGAGGGTGACCC	0.587													7	58					0	0	0	0	C	48744600	G	C	48744600	2	2	87	1	0	0	0	0	0	0	0	1	16205	1161	41	2		2	TMEM189	20	48744600	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1419684	48744600	14280920	502	17040											
ZNF217	7764	broad.mit.edu	37	chr20	52188284	52188284	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccccctaattagtgaatCaagtttttttgtcatttggt	8	20	6	7	0	2	1	2	1	0	0	3	1	3	1	2	1	0	1	2	1	4	7			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:52188284C>G	ENST00000371471.2	-	5	3571	c.3146G>C	c.(3145-3147)tGa>tCa	p.*1049S	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Nonstop_Mutation_p.*1049S			O75362	ZN217_HUMAN	zinc finger protein 217	0					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ATTAGTGAATCAAGTTTTTTT	0.413													7	62					0	0	0	0	G	52188284	C	G	52188284	4	3	87	1	0	0	0	0	0	0	0	0	17867	837	29	2	4	2	ZNF217	20	52188284	Nonstop_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	3443684	52188284	10837236	503	17041											
CDH26	60437	broad.mit.edu	37	chr20	58587630	58587630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaccccggctacctacctCacgtctacagcgaggaaggg	10	6	11	14	3	2	1	1	1	1	0	2	3	2	2	4	3	4	1	4	3	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:58587630C>T	ENST00000348616.4	+	18	2644	c.2344C>T	c.(2344-2346)Cac>Tac	p.H782Y	CDH26_ENST00000350849.6_Missense_Mutation_p.H115Y|CDH26_ENST00000244047.5_Intron|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_Missense_Mutation_p.H74Y	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			CTACCTACCTCACGTCTACAG	0.552													5	65					0	0	0	0	T	58587630	C	T	58587630	3	4	87	1	0	0	0	0	1	0	0	0	3139	826	29	2	2436	2	CDH26	20	58587630	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	6399346	58587630	4437890	504	17042											
DIDO1	11083	broad.mit.edu	37	chr20	61511065	61511065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgcctcccttcgaaagtCtggtttctgtattcgtggcc	4	15	9	13	2	3	0	0	0	3	0	6	1	4	0	3	2	1	2	3	2	2	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:61511065C>G	ENST00000266070.4	-	16	6568	c.6243G>C	c.(6241-6243)caG>caC	p.Q2081H	DIDO1_ENST00000395343.1_Missense_Mutation_p.Q2081H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2081					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTCGAAAGTCTGGTTTCTGT	0.677													22	224					0	0	0	0	G	61511065	C	G	61511065	3	3	87	1	0	0	0	0	1	0	0	0	4559	912	32	2	483	2	DIDO1	20	61511065	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2923435	61511065	1514455	505	17043											
TIAM1	7074	broad.mit.edu	37	chr21	32639270	32639270	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaactcgtgctctacatgttGactttctgcgtttcccatgg	7	15	8	11	2	2	1	0	1	2	0	4	1	3	1	1	1	4	3	1	1	2	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr21:32639270G>C	ENST00000286827.3	-	5	490	c.19C>G	c.(19-21)Caa>Gaa	p.Q7E	TIAM1_ENST00000541036.1_Missense_Mutation_p.Q7E|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	7					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTACATGTTGACTTTCTGCG	0.527													8	50					0	0	0	0	C	32639270	G	C	32639270	3	2	87	1	0	0	0	0	1	0	0	0	15984	1299	45	2	4856	2	TIAM1	21	32639270	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08		32639270	15490625	506	17044											
MCM3AP	8888	broad.mit.edu	37	chr21	47666772	47666772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtctccacagcatcaatgGcaccatcactgagggcgcca	10	7	10	14	1	3	1	2	1	1	0	4	1	3	1	3	2	1	2	3	2	1	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr21:47666772G>A	ENST00000397708.1	-	22	4573	c.4319C>T	c.(4318-4320)gCc>gTc	p.A1440V	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1440V|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1440					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGCATCAATGGCACCATCACT	0.577													13	138					0	0	0	0	A	47666772	G	A	47666772	3	1	87	1	0	0	0	0	1	0	0	0	9457	1203	42	4	1655	4	MCM3AP	21	47666772	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	15027502	47666772	463123	507	17045											
ZNF74	7625	broad.mit.edu	37	chr22	20761221	20761221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtggttccccccagagctgGcaggaatttctccctgggga	6	9	13	13	1	1	1	0	0	1	1	3	3	2	3	4	5	1	3	4	5	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:20761221G>A	ENST00000400451.2	+	5	2412	c.1898G>A	c.(1897-1899)gGc>gAc	p.G633D	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.G633D|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.G601D	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	633					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCCAGAGCTGGCAGGAATTTC	0.572													7	34					0	0	0	0	A	20761221	G	A	20761221	3	1	87	1	0	0	0	0	1	0	0	0	18221	1203	42	4	1916	4	ZNF74	22	20761221	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08		20761221	30543345	508	17046											
PI4KA	5297	broad.mit.edu	37	chr22	21174109	21174109	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagagctttgagaggagAgactcttccatgttgctgta	11	11	13	6	0	1	3	0	1	1	3	2	7	2	5	1	2	2	4	1	2	2	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:21174109A>G	ENST00000255882.6	-	6	695	c.609T>C	c.(607-609)tcT>tcC	p.S203S	PI4KA_ENST00000572273.1_Silent_p.S145S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	145					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)			TTGAGAGGAGAGACTCTTCCA	0.478													7	161					0	0	0	0	G	21174109	A	G	21174109	2	3	87	1	0	0	0	0	0	0	0	1	11945	291	11	5		5	PI4KA	22	21174109	Silent	SNP	A	TCGA-CN-5369-01A-01D-1434-08	412888	21174109	30130457	509	17047											
SLC35E4	339665	broad.mit.edu	37	chr22	31033023	31033023	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttcctgctcgcagccAcctgcctccgcggactcaag	5	8	11	17	3	1	0	1	0	0	0	4	1	3	1	5	2	3	3	5	2	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:31033023A>G	ENST00000343605.4	+	1	1385	c.586A>G	c.(586-588)Acc>Gcc	p.T196A	SLC35E4_ENST00000406566.1_Missense_Mutation_p.T196A|SLC35E4_ENST00000300385.8_Missense_Mutation_p.T196A	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	196	Leu-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCTCGCAGCCACCTGCCTCCG	0.667													7	43					0	0	0	0	G	31033023	A	G	31033023	3	3	87	1	0	0	0	0	1	0	0	0	14675	159	6	5	588	5	SLC35E4	22	31033023	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	9858914	31033023	20271543	510	17048											
EFCAB6	64800	broad.mit.edu	37	chr22	43985982	43985982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatgggtcagctccccttCggtaagagaacatccacatt	11	9	9	12	1	1	2	1	0	0	2	4	3	3	2	3	2	2	2	3	2	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:43985982C>T	ENST00000262726.7	-	24	3257	c.3004G>A	c.(3004-3006)Gaa>Aaa	p.E1002K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E850K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1002					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCTCCCCTTCGGTAAGAGAA	0.408													9	104					0	0	0	0	T	43985982	C	T	43985982	3	4	87	1	0	0	0	0	1	0	0	0	4975	893	31	1	1537	1	EFCAB6	22	43985982	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	12952959	43985982	7318584	511	17049											
SELO	83642	broad.mit.edu	37	chr22	50647025	50647025	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagggcgtgcaggccccagCgtggggaggaacgacattcg	9	4	17	11	4	0	0	0	0	0	0	1	3	0	2	2	5	3	1	2	5	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:50647025C>T	ENST00000380903.2	+	3	877	c.819C>T	c.(817-819)agC>agT	p.S273S	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					CAGGCCCCAGCGTGGGGAGGA	0.567													7	69					0	0	0	0	T	50647025	C	T	50647025	2	4	87	1	0	0	0	0	0	0	0	1	14105	767	27	1		1	SELO	22	50647025	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	6661043	50647025	657541	512	17050											
GYG2	8908	broad.mit.edu	37	chrX	2793882	2793882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctgaaactgagactcctgCcgtgataacgtgtgacccac	10	9	9	13	2	0	4	0	4	0	1	2	5	2	4	4	0	3	0	4	0	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:2793882C>T	ENST00000381163.3	+	10	1445	c.1163C>T	c.(1162-1164)gCc>gTc	p.A388V	GYG2_ENST00000542787.1_Intron|GYG2_ENST00000338623.5_Missense_Mutation_p.A388V|GYG2_ENST00000398806.3_Missense_Mutation_p.A357V|GYG2_ENST00000381161.1_Intron	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	388					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGACTCCTGCCGTGATAACG	0.433													5	29					0	0	0	0	T	2793882	C	T	2793882	3	4	87	1	0	0	0	0	1	0	0	0	6956	739	26	4	1197	4	GYG2	23	2793882	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08		2793882	152476678	513	17051											
FRMPD4	9758	broad.mit.edu	37	chrX	12734553	12734553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttatttttggagacttcGccttggatgatggtattagt	7	18	10	6	1	0	2	0	1	0	1	1	4	0	3	2	3	0	1	2	3	3	8			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:12734553G>A	ENST00000380682.1	+	15	2481	c.1975G>A	c.(1975-1977)Gcc>Acc	p.A659T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	659					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGGAGACTTCGCCTTGGATGA	0.483													26	241					0	0	0	0	A	12734553	G	A	12734553	3	1	87	1	0	0	0	0	1	0	0	0	6107	1087	38	1	2033	1	FRMPD4	23	12734553	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	9940671	12734553	142536007	514	17052											
DMD	1756	broad.mit.edu	37	chrX	31164450	31164450	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccaaccactcggagcagcaTaggctgactgctgtcggacc	9	6	12	14	2	0	1	0	1	0	0	2	3	0	3	3	3	4	4	3	3	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:31164450T>C	ENST00000357033.4	-	76	11085	c.10879A>G	c.(10879-10881)Atg>Gtg	p.M3627V	DMD_ENST00000378702.4_Missense_Mutation_p.M559V|DMD_ENST00000361471.4_Missense_Mutation_p.M546V|DMD_ENST00000541735.1_Missense_Mutation_p.M1057V|DMD_ENST00000378707.3_Missense_Mutation_p.M1167V|DMD_ENST00000378723.3_Missense_Mutation_p.M559V|DMD_ENST00000378677.2_Missense_Mutation_p.M3623V|DMD_ENST00000359836.1_Missense_Mutation_p.M1154V|DMD_ENST00000474231.1_Missense_Mutation_p.M1167V|DMD_ENST00000378680.2_Missense_Mutation_p.M449V|DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000343523.2_Missense_Mutation_p.M1057V	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3627					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGGAGCAGCATAGGCTGACTG	0.498													5	58					0	0	0	0	C	31164450	T	C	31164450	3	2	87	1	0	0	0	0	1	0	0	0	4617	1406	49	5	280	5	DMD	23	31164450	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	18429897	31164450	124106110	515	17053											
DMD	1756	broad.mit.edu	37	chrX	32663245	32663245	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaatgaactgccaaatgActtgtcttcaggagcttcca	12	11	7	11	0	3	2	2	2	1	0	4	3	4	3	2	1	3	1	2	1	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:32663245A>G	ENST00000357033.4	-	10	1191	c.985T>C	c.(985-987)Tca>Cca	p.S329P	DMD_ENST00000378677.2_Missense_Mutation_p.S325P|DMD_ENST00000288447.4_Missense_Mutation_p.S321P	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	329					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCAAATGACTTGTCTTCA	0.378													7	154					0	0	0	0	G	32663245	A	G	32663245	3	3	87	1	0	0	0	0	1	0	0	0	4617	275	10	5	10595	5	DMD	23	32663245	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	1498795	32663245	122607315	516	17054											
FAM47A	158724	broad.mit.edu	37	chrX	34149420	34149420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctccggaggctccgggcGgagactggacaccggagtct	7	6	16	12	4	2	1	0	0	2	1	4	5	3	4	3	6	0	1	3	6	0	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:34149420G>A	ENST00000346193.3	-	1	1027	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	326										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCTCCGGGCGGAGACTGGAC	0.617													7	46					0	0	0	0	A	34149420	G	A	34149420	3	1	87	1	0	0	0	0	1	0	0	0	5616	1116	39	1	1403	1	FAM47A	23	34149420	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1486175	34149420	121121140	517	17055											
FAM47C	442444	broad.mit.edu	37	chrX	37028001	37028001	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagccccccaagacacgCgtatctcatctccgcccaga	10	5	7	19	3	2	3	1	0	2	3	4	3	2	3	6	0	1	1	6	0	2	1	rs149060980	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:37028001C>T	ENST00000358047.3	+	1	1570	c.1518C>T	c.(1516-1518)cgC>cgT	p.R506R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	506								p.R506R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACACGCGTATCTCATC	0.617													13	154					0	0	0	0	T	37028001	C	T	37028001	2	4	87	1	0	0	0	0	0	0	0	1	5618	755	27	1		1	FAM47C	23	37028001	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2878581	37028001	118242559	518	17056											
CYBB	1536	broad.mit.edu	37	chrX	37655262	37655262	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggcatcactggagttgTcatcacgctgtgcctcatat	8	11	11	11	1	4	0	4	0	0	0	4	1	4	1	1	3	1	4	1	3	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:37655262T>C	ENST00000378588.4	+	6	609	c.542T>C	c.(541-543)gTc>gCc	p.V181A	CYBB_ENST00000545017.1_Missense_Mutation_p.V149A|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	181	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						ACTGGAGTTGTCATCACGCTG	0.458													7	95					0	0	0	0	C	37655262	T	C	37655262	3	2	87	1	0	0	0	0	1	0	0	0	4165	1667	58	5	564	5	CYBB	23	37655262	Missense_Mutation	SNP	T	TCGA-CN-5369-01A-01D-1434-08	627261	37655262	117615298	519	17057											
USP9X	8239	broad.mit.edu	37	chrX	41075704	41075704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatggacacaatagaccaaGatgatgagttgataagatat	18	9	10	4	0	0	6	0	3	0	3	0	8	0	7	1	1	0	1	1	1	6	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:41075704G>C	ENST00000324545.7	+	35	6517	c.5884G>C	c.(5884-5886)Gat>Cat	p.D1962H	USP9X_ENST00000378308.2_Missense_Mutation_p.D1962H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1962					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AATAGACCAAGATGATGAGTT	0.393													14	146					0	0	0	0	C	41075704	G	C	41075704	3	2	87	1	0	0	0	0	1	0	0	0	17186	942	33	2	6018	2	USP9X	23	41075704	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3420442	41075704	114194856	520	17058											
SLC38A5	92745	broad.mit.edu	37	chrX	48319088	48319088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgagcagcacggccaggcGcacacagaggatgagcgggt	10	2	17	12	5	0	2	0	1	0	1	0	4	0	3	1	4	3	3	1	4	0	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:48319088G>A	ENST00000376876.3	-	13	1858	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	SLC38A5_ENST00000376875.1_Missense_Mutation_p.R288C|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000317669.5_Missense_Mutation_p.R339C			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	339					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						ACGGCCAGGCGCACACAGAGG	0.632													9	48					0	0	0	0	A	48319088	G	A	48319088	3	1	87	1	0	0	0	0	1	0	0	0	14695	1087	38	1	419	1	SLC38A5	23	48319088	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	7243384	48319088	106951472	521	17059											
GNL3L	54552	broad.mit.edu	37	chrX	54574764	54574764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttctggggaactattgcCgccttggtgaagtgcgcacc	6	10	15	10	2	1	1	0	1	1	0	1	2	1	2	3	4	3	2	3	4	3	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:54574764C>T	ENST00000336470.4	+	9	872	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	GNL3L_ENST00000360845.2_Missense_Mutation_p.R245C	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	245					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GAACTATTGCCGCCTTGGTGA	0.542													4	23					0	0	0	0	T	54574764	C	T	54574764	3	4	87	1	0	0	0	0	1	0	0	0	6589	652	23	1	763	1	GNL3L	23	54574764	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	6255676	54574764	100695796	522	17060											
HEPH	9843	broad.mit.edu	37	chrX	65413477	65413477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagataggcatcttggaatcCtgggtgaggaatttttaaat	13	13	11	4	0	1	2	0	1	1	1	2	4	2	4	1	4	0	1	1	4	6	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:65413477C>A	ENST00000519389.1	+	8	1707	c.1528C>A	c.(1528-1530)Ctg>Atg	p.L510M	HEPH_ENST00000343002.2_Missense_Mutation_p.L456M|HEPH_ENST00000374727.3_Missense_Mutation_p.L459M|HEPH_ENST00000441993.2_Missense_Mutation_p.L459M|HEPH_ENST00000336279.5_Missense_Mutation_p.L189M|HEPH_ENST00000419594.1_Missense_Mutation_p.L459M			Q9BQS7	HEPH_HUMAN	hephaestin	456	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCTTGGAATCCTGGGTGAGGA	0.418													8	37					1	1	1	0	A	65413477	C	A	65413477	3	1	87	1	0	0	0	0	1	0	0	0	7104	680	24	4	1558	4	HEPH	23	65413477	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	10838713	65413477	89857083	523	17061											
EDA	1896	broad.mit.edu	37	chrX	69255292	69255292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagtgcacacgcagcatcGagacgggcaagaccaactac	13	4	11	13	3	0	2	0	0	0	2	1	3	0	2	1	1	5	5	1	1	3	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:69255292G>A	ENST00000374552.4	+	8	1251	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	EDA_ENST00000524573.1_Missense_Mutation_p.E332K|EDA_ENST00000374553.2_Missense_Mutation_p.E335K	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	337					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						ACGCAGCATCGAGACGGGCAA	0.552													5	51					0	0	0	0	A	69255292	G	A	69255292	3	1	87	1	0	0	0	0	1	0	0	0	4939	1059	37	1	1175	1	EDA	23	69255292	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3841815	69255292	86015268	524	17062											
ZMYM3	9203	broad.mit.edu	37	chrX	70472945	70472945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagcaggtccagggctcccGaggatggagaagggccaggg	10	3	18	10	1	0	1	0	0	0	1	2	4	2	2	3	6	1	2	3	6	2	0			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:70472945G>A	ENST00000373998.1	-	2	858	c.161C>T	c.(160-162)tCg>tTg	p.S54L	ZMYM3_ENST00000373981.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000353904.2_Missense_Mutation_p.S54L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373978.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000373982.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000373988.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000373984.3_Missense_Mutation_p.S54L|ZMYM3_ENST00000314425.5_Missense_Mutation_p.S54L	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	54					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGGGCTCCCGAGGATGGAGA	0.607											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	24					0	0	0	0	A	70472945	G	A	70472945	3	1	87	1	0	0	0	0	1	0	0	0	17796	1059	37	1	4065	1	ZMYM3	23	70472945	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	1217653	70472945	84797615	525	17063											
KIAA2022	340533	broad.mit.edu	37	chrX	73960813	73960813	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattttttcctggtgtttttCtgagaagagctttggttcat	6	20	10	5	0	2	2	1	1	1	2	3	4	3	2	1	2	1	3	1	2	1	7			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:73960813C>G	ENST00000373468.1	-	3	4230	c.3579G>C	c.(3577-3579)caG>caC	p.Q1193H	KIAA2022_ENST00000055682.5_Missense_Mutation_p.Q1193H			Q5QGS0	K2022_HUMAN	KIAA2022	1193					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGTGTTTTTCTGAGAAGAGC	0.428													10	97					0	0	0	0	G	73960813	C	G	73960813	3	3	87	1	0	0	0	0	1	0	0	0	8320	912	32	2	979	2	KIAA2022	23	73960813	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	3487868	73960813	81309747	526	17064											
ATRX	546	broad.mit.edu	37	chrX	76937131	76937131	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatcatcatcttctatatcaGaagaagatgaggatgtaatg	15	12	9	5	0	5	4	3	1	2	3	5	6	5	5	0	1	0	1	0	1	5	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:76937131G>C	ENST00000373344.5	-	9	3831	c.3617C>G	c.(3616-3618)tCt>tGt	p.S1206C	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1168C	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1206	Poly-Ser.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTATATCAGAAGAAGATGA	0.378			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						8	192					0	0	0	0	C	76937131	G	C	76937131	3	2	87	1	0	0	0	0	1	0	0	0	1212	942	33	2	3969	2	ATRX	23	76937131	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2976318	76937131	78333429	527	17065											
TAF9B	51616	broad.mit.edu	37	chrX	77395061	77395061	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatccttcgcacttaccaaGgcatctctcggagcgttctt	7	14	7	13	3	2	0	0	0	2	0	6	1	3	1	2	2	2	3	2	2	3	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:77395061G>T	ENST00000341864.5	-	1	142	c.48C>A	c.(46-48)gcC>gcA	p.A16A		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	16					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CACTTACCAAGGCATCTCTCG	0.657													10	154					7.48243e-07	8.13597e-07	1	0	T	77395061	G	T	77395061	2	4	87	1	0	0	0	0	0	0	0	1	15627	987	35	4		4	TAF9B	23	77395061	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	457930	77395061	77875499	528	17066											
BRWD3	254065	broad.mit.edu	37	chrX	79999689	79999689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatttcagcagagtgtccacGaagtgtagcaagaaggcgtc	13	8	12	8	2	1	2	1	0	0	2	3	3	2	2	1	1	2	3	1	1	5	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:79999689G>A	ENST00000373275.4	-	8	871	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	219								p.R219C(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GAGTGTCCACGAAGTGTAGCA	0.403													10	138					0	0	0	0	A	79999689	G	A	79999689	3	1	87	1	0	0	0	0	1	0	0	0	1534	1058	37	1	4889	1	BRWD3	23	79999689	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2604628	79999689	75270871	529	17067											
BRWD3	254065	broad.mit.edu	37	chrX	80049247	80049247	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aattttaaggaggtagtctgGaggaatgtgtgcatttgctg	10	14	14	3	0	1	0	0	0	1	0	1	3	1	3	0	4	2	3	0	4	4	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:80049247G>C	ENST00000373275.4	-	5	421	c.205C>G	c.(205-207)Cca>Gca	p.P69A		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	69										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGGTAGTCTGGAGGAATGTGT	0.348													5	46					0	0	0	0	C	80049247	G	C	80049247	3	2	87	1	0	0	0	0	1	0	0	0	1534	1174	41	2	5351	2	BRWD3	23	80049247	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	49558	80049247	75221313	530	17068											
PCDH11X	27328	broad.mit.edu	37	chrX	91134260	91134261	+	Frame_Shift_Del	DEL	AC	AC	-																															ttcgaggtacctgtgtccgtAcacaccagaccggtaggtat																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:91134260_91134261delAC	ENST00000373094.1	+	2	3866_3867	c.3021_3022delAC	c.(3019-3024)gtacfs	p.VH1007fs	PCDH11X_ENST00000373097.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000361724.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000361655.2_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000373088.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000298274.8_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000406881.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000395337.2_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000504220.1_Frame_Shift_Del_p.VH1007fs	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1007					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGTGTCCGTACACACCAGACC	0.406													19	154	---	---	---	---					-	91134261	AC	-	91134260	7	5	87	1	0	1	0	1	0	0	0	0	11579	378	14	0	3027	0	PCDH11X	23	91134260	Frame_Shift_Del	DEL	AC	TCGA-CN-5369-01A-01D-1434-08	11085013	91134260	64136300	531	17069											
GLRA4	441509	broad.mit.edu	37	chrX	102979153	102979153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagggatcgaggtccagaGagtcatcaggatattctcgg	10	9	15	7	2	3	1	2	0	1	1	6	6	4	4	1	5	0	0	1	5	1	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:102979153G>T	ENST00000372617.4	-	4	767	c.347C>A	c.(346-348)tCt>tAt	p.S116Y		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	116						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAGGTCCAGAGAGTCATCAGG	0.547													10	146					0.000442599	0.000462304	1	0	T	102979153	G	T	102979153	3	4	87	1	0	0	0	0	1	0	0	0	6508	942	33	2	1025	2	GLRA4	23	102979153	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	11844893	102979153	52291407	532	17070											
RNF128	79589	broad.mit.edu	37	chrX	106016281	106016281	+	Frame_Shift_Del	DEL	T	T	-																															ttgggtgaatcactattcaaTttttttcgtttctgtgtcct																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:106016281delT	ENST00000255499.2	+	2	873	c.623delT	c.(622-624)atfs	p.I208fs	RNF128_ENST00000324342.3_Frame_Shift_Del_p.I182fs	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	208						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CACTATTCAATTTTTTTCGTT	0.388													11	160	---	---	---	---					-	106016281	T	-	106016281	7	5	87	1	0	1	0	1	0	0	0	0	13521	1493	52	0	1039	0	RNF128	23	106016281	Frame_Shift_Del	DEL	T	TCGA-CN-5369-01A-01D-1434-08	3037128	106016281	49254279	533	17071											
PRPS1	5631	broad.mit.edu	37	chrX	106885676	106885676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggagaatatctctgagtgGaggaactgcactattgtctc	11	11	12	7	0	2	2	0	1	2	1	4	5	2	4	0	3	2	1	0	3	4	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:106885676G>T	ENST00000372435.4	+	4	608	c.486G>T	c.(484-486)tgG>tgT	p.W162C	PRPS1_ENST00000543248.1_Missense_Mutation_p.W162C|PRPS1_ENST00000372418.1_Missense_Mutation_p.W62C|PRPS1_ENST00000372428.4_Missense_Mutation_p.W95C	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	162					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TCTCTGAGTGGAGGAACTGCA	0.433													11	116					3.86212e-05	4.12591e-05	1	0	T	106885676	G	T	106885676	3	4	87	1	0	0	0	0	1	0	0	0	12658	1183	41	2	500	2	PRPS1	23	106885676	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	869395	106885676	48384884	534	17072											
MID2	11043	broad.mit.edu	37	chrX	107084402	107084402	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccgttgcctgcgggccacGcaccccaacaagaaaccttt	10	6	9	16	3	0	1	0	0	0	1	0	2	0	1	6	1	4	2	6	1	3	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:107084402G>A	ENST00000262843.6	+	2	1055	c.507G>A	c.(505-507)acG>acA	p.T169T	MID2_ENST00000443968.2_Silent_p.T169T	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	169						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCGGGCCACGCACCCCAACA	0.552													7	59					0	0	0	0	A	107084402	G	A	107084402	2	1	87	1	0	0	0	0	0	0	0	1	9647	1074	38	1		1	MID2	23	107084402	Silent	SNP	G	TCGA-CN-5369-01A-01D-1434-08	198726	107084402	48186158	535	17073											
ALG13	79868	broad.mit.edu	37	chrX	110924449	110924449	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaggaacccgcgccatGaagtgcgtgtttgttaccgt	7	11	13	10	4	0	2	0	2	0	0	0	3	0	3	3	1	3	3	3	1	3	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:110924449G>T	ENST00000394780.3	+	1	15	c.3G>T	c.(1-3)atG>atT	p.M1I	ALG13_ENST00000251943.4_5'UTR|ALG13_ENST00000371979.3_Start_Codon_SNP_p.M1I	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CCCGCGCCATGAAGTGCGTGT	0.602													27	232					9.39395e-14	1.0381e-13	1	0	T	110924449	G	T	110924449	1	4	87	1	0	0	0	0	0	0	0	0	515	1290	45	2		2	ALG13	23	110924449	Translation_Start_Site	SNP	G	TCGA-CN-5369-01A-01D-1434-08	3840047	110924449	44346111	536	17074											
DOCK11	139818	broad.mit.edu	37	chrX	117758580	117758580	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atatacagcgattagcaggtCgagataccttgtattcttgt	11	14	9	7	2	1	1	0	0	1	1	2	3	1	1	1	1	4	2	1	1	5	8			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:117758580C>G	ENST00000276204.6	+	32	3624	c.3550C>G	c.(3550-3552)Cga>Gga	p.R1184G	DOCK11_ENST00000276202.7_Missense_Mutation_p.R1184G			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1184					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATTAGCAGGTCGAGATACCTT	0.358													20	194					0	0	0	0	G	117758580	C	G	117758580	3	3	87	1	0	0	0	0	1	0	0	0	4722	876	31	3	3676	3	DOCK11	23	117758580	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	6834131	117758580	37511980	537	17075											
CT47B1	643311	broad.mit.edu	37	chrX	120009419	120009419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcggggccggagtcgcCgccctcctggttaccagctc	3	8	14	16	4	0	0	0	0	0	0	4	1	1	1	5	4	2	3	5	4	1	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:120009419C>T	ENST00000371311.3	-	1	360	c.106G>A	c.(106-108)Ggc>Agc	p.G36S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	36										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCGGAGTCGCCGCCCTCCTGG	0.731													10	79					0	0	0	0	T	120009419	C	T	120009419	3	4	87	1	0	0	0	0	1	0	0	0	4021	652	23	1	801	1	CT47B1	23	120009419	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	2250839	120009419	35261141	538	17076											
SLC25A14	9016	broad.mit.edu	37	chrX	129483264	129483264	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaagcatcatatggcacCattaaaattgggatttacca	16	10	7	8	0	1	1	1	0	0	1	1	2	1	2	2	2	2	2	2	2	5	5			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:129483264C>A	ENST00000543953.1	+	4	301	c.252C>A	c.(250-252)acC>acA	p.T84T	SLC25A14_ENST00000361980.5_Silent_p.T116T|SLC25A14_ENST00000218197.5_Silent_p.T119T|SLC25A14_ENST00000545805.1_Silent_p.T119T|SLC25A14_ENST00000339231.3_Silent_p.T116T|SLC25A14_ENST00000467496.1_3'UTR			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	119					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						CATATGGCACCATTAAAATTG	0.343													8	72					7.48243e-07	8.13597e-07	1	0	A	129483264	C	A	129483264	2	1	87	1	0	0	0	0	0	0	0	1	14564	581	21	4		4	SLC25A14	23	129483264	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	9473845	129483264	25787296	539	17077											
IGSF1	3547	broad.mit.edu	37	chrX	130409661	130409661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctactccatggaccggccctCggcaccagagagtaacattc	10	7	9	15	2	0	1	0	0	0	1	3	3	1	2	4	3	2	2	4	3	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:130409661C>T	ENST00000370904.1	-	22	3858	c.2948G>A	c.(2947-2949)cGa>cAa	p.R983Q	IGSF1_ENST00000370910.1_Missense_Mutation_p.R983Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.R992Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.R997Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	992	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GACCGGCCCTCGGCACCAGAG	0.522													16	162					0	0	0	0	T	130409661	C	T	130409661	3	4	87	1	0	0	0	0	1	0	0	0	7649	884	31	1	1055	1	IGSF1	23	130409661	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	926397	130409661	24860899	540	17078											
CD40LG	959	broad.mit.edu	37	chrX	135741392	135741392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	taaagtcccccggtagattcGagagaatcttactcagagct	12	10	9	10	2	2	3	1	0	1	3	4	5	3	3	2	1	2	2	2	1	5	4			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:135741392G>C	ENST00000370629.2	+	5	660	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	CD40LG_ENST00000370628.2_Missense_Mutation_p.E181Q	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	202					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	CGGTAGATTCGAGAGAATCTT	0.483									Immune Deficiency with Hyper-IgM				35	344					0	0	0	0	C	135741392	G	C	135741392	3	2	87	1	0	0	0	0	1	0	0	0	3045	1059	37	3	622	3	CD40LG	23	135741392	Missense_Mutation	SNP	G	TCGA-CN-5369-01A-01D-1434-08	5331731	135741392	19529168	541	17079											
MAGEC2	51438	broad.mit.edu	37	chrX	141291342	141291342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccactaactcggccacCttttcatctagtgtatatgt	10	14	5	12	1	2	0	1	0	1	0	4	0	3	0	3	1	2	1	3	1	5	6			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:141291342C>A	ENST00000247452.3	-	3	779	c.432G>T	c.(430-432)aaG>aaT	p.K144N		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	144	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCGGCCACCTTTTCATCTA	0.493										HNSCC(46;0.14)			9	183					1.12685e-05	1.21017e-05	1	0	A	141291342	C	A	141291342	3	1	87	1	0	0	0	0	1	0	0	0	9250	680	24	4	693	4	MAGEC2	23	141291342	Missense_Mutation	SNP	C	TCGA-CN-5369-01A-01D-1434-08	5549950	141291342	13979218	542	17080											
MAGEA8	4107	broad.mit.edu	37	chrX	149013598	149013598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctacatccttgtcacctgCctgggcctctcctatgatgg	5	13	8	15	0	2	1	1	1	1	0	5	1	4	1	6	2	2	0	6	2	2	3			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:149013598C>T	ENST00000535454.1	+	4	1101	c.552C>T	c.(550-552)tgC>tgT	p.C184C	MAGEA8_ENST00000542674.1_Silent_p.C184C|MAGEA8_ENST00000286482.1_Silent_p.C184C	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	184	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTCACCTGCCTGGGCCTCT	0.552													7	93					0	0	0	0	T	149013598	C	T	149013598	2	4	87	1	0	0	0	0	0	0	0	1	9238	747	26	4		4	MAGEA8	23	149013598	Silent	SNP	C	TCGA-CN-5369-01A-01D-1434-08	7722256	149013598	6256962	543	17081											
MAGEA5	4104	broad.mit.edu	37	chrX	151284016	151284016	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctgctcaagagacatgacGactctggtcaccgcaacagg	11	8	10	12	2	4	2	2	1	2	1	4	4	4	2	1	2	2	2	1	2	2	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:151284016G>A	ENST00000509345.2	-	0	320																											GAGACATGACGACTCTGGTCA	0.592													9	146					0	0	0	0	A	151284016	G	A	151284016	1	1	87	0	1	0	0	0	0	0	0	0	9236	1073	37	1		1	MAGEA5	23	151284016	RNA	SNP	G	TCGA-CN-5369-01A-01D-1434-08	2270418	151284016	3986544	544	17082											
SRPK3	26576	broad.mit.edu	37	chrX	153049647	153049647	+	Frame_Shift_Del	DEL	G	G	-																															cgtccaatcagcgagagaccGggggcctcctgtcgcctagc																										TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:153049647delG	ENST00000489426.1	+	16	3693	c.1327delG	c.(1327-1329)ggfs	p.G444fs	SRPK3_ENST00000370100.1_Frame_Shift_Del_p.G302fs|SRPK3_ENST00000370101.3_Frame_Shift_Del_p.G377fs|SRPK3_ENST00000370104.1_Frame_Shift_Del_p.G376fs|SRPK3_ENST00000393786.3_Frame_Shift_Del_p.G343fs|SRPK3_ENST00000370108.3_Frame_Shift_Del_p.G344fs			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	377	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGAGAGACCGGGGGCCTCCT	0.642													8	80	---	---	---	---					-	153049647	G	-	153049647	7	5	87	1	0	1	0	1	0	0	0	0	15251	1116	39	0	1164	0	SRPK3	23	153049647	Frame_Shift_Del	DEL	G	TCGA-CN-5369-01A-01D-1434-08	1765631	153049647	2220913	545	17083											
FLNA	2316	broad.mit.edu	37	chrX	153577807	153577807	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaggcccttggccaccAccttgctggcgtcagcaggc	5	6	12	18	1	1	0	1	0	0	0	1	0	1	0	6	4	2	2	6	4	0	2			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:153577807A>G	ENST00000422373.1	-	46	7903	c.7655T>C	c.(7654-7656)gTg>gCg	p.V2552A	FLNA_ENST00000344736.4_Missense_Mutation_p.V2520A|FLNA_ENST00000369850.3_Missense_Mutation_p.V2560A|FLNA_ENST00000360319.4_Missense_Mutation_p.V2552A|FLNA_ENST00000369856.3_Missense_Mutation_p.V693A|FLNA_ENST00000498491.1_5'UTR	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2560	Self-association site, tail.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGGCCACCACCTTGCTGGC	0.652													5	81					0	0	0	0	G	153577807	A	G	153577807	3	3	87	1	0	0	0	0	1	0	0	0	5978	159	6	5	272	5	FLNA	23	153577807	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	528160	153577807	1692753	546	17084											
IL9R	3581	broad.mit.edu	37	chrX	155239824	155239824	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcaacaacaactactgtgcct	15	4	8	14	0	0	0	0	0	0	0	0	0	0	0	1	0	12	6	1	0	5	1			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:155239824A>G	ENST00000424344.3	+	10	1620	c.1253A>G	c.(1252-1254)aAc>aGc	p.N418S	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.N439S			Q01113	IL9R_HUMAN	interleukin 9 receptor	439					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.N439S(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					agcagcagcaacaacaacaAC	0.642													5	17					0	0	0	0	G	155239824	A	G	155239824	3	3	87	1	0	0	0	0	1	0	0	0	7761	43	2	5	1350	5	IL9R	23	155239824	Missense_Mutation	SNP	A	TCGA-CN-5369-01A-01D-1434-08	1662017	155239824	30736	547	17085											
PLEKHN1	84069	broad.mit.edu	37	chr1	909316	909316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctcgctcctgctcctccgGccccgctggcccctacttgc	1	9	8	23	3	0	0	0	0	0	0	4	0	3	0	8	2	3	3	8	2	1	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:909316G>T	ENST00000379409.2	+	13	1724	c.1694G>T	c.(1693-1695)gGc>gTc	p.G565V	PLEKHN1_ENST00000379407.2_Missense_Mutation_p.G478V|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.G513V			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	565										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGCTCCTCCGGCCCCGCTGGC	0.692													6	28					3.59834e-05	4.47793e-05	1	0	T	909316	G	T	909316	3	4	88	1	0	0	0	0	1	0	0	0	12155	1203	42	4	1628	4	PLEKHN1	1	909316	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08		909316	248341305	1	17086											
CCNL2	81669	broad.mit.edu	37	chr1	1325617	1325617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaacagactcacccagcttGggggcaggagagaaccccga	12	4	12	13	1	1	2	1	0	0	2	1	5	1	3	3	3	3	2	3	3	2	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:1325617G>A	ENST00000400809.3	-	8	1004	c.999C>T	c.(997-999)ccC>ccT	p.P333P	CCNL2_ENST00000408952.5_Silent_p.P111P|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	333					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CACCCAGCTTGGGGGCAGGAG	0.597													24	140					0	0	0	0	A	1325617	G	A	1325617	2	1	88	1	0	0	0	0	0	0	0	1	2961	1335	47	4		4	CCNL2	1	1325617	Silent	SNP	G	TCGA-CN-5370-01A-01D-2012-08	416301	1325617	247925004	2	17087											
CLCNKA	1187	broad.mit.edu	37	chr1	16359665	16359665	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctaacaatcccccatccagGcacaaaacctctttaagctg	13	8	4	16	0	1	0	0	0	1	0	3	0	3	0	5	1	3	2	5	1	5	3			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:16359665G>A	ENST00000375692.1	+	20	2055	c.1926_splice	c.e20-1	p.A643_splice	CLCNKA_ENST00000439316.2_Splice_Site_p.A601_splice|CLCNKA_ENST00000331433.4_Splice_Site_p.A644_splice|CLCNKA_ENST00000420078.1_Splice_Site_p.A643_splice|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	644	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCCCATCCAGGCACAAAACCT	0.627											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	205					0	0	0	0	A	16359665	G	A	16359665	5	1	88	1	0	0	0	0	0	0	1	0	3499	1217	42	4	2000	4	CLCNKA	1	16359665	Splice_Site	SNP	G	TCGA-CN-5370-01A-01D-2012-08	15034048	16359665	232890956	3	17088											
GPSM2	29899	broad.mit.edu	37	chr1	109446790	109446790	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagcacgacttaatctctCagaccttcaaatggttcttg	12	12	6	11	1	4	1	2	0	2	1	5	2	4	1	1	1	2	2	1	1	3	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:109446790C>G	ENST00000406462.1	+	11	1879	c.1106C>G	c.(1105-1107)tCa>tGa	p.S369*	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Nonsense_Mutation_p.S369*			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	369					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTTAATCTCTCAGACCTTCAA	0.348													7	40					0	0	0	0	G	109446790	C	G	109446790	4	3	88	1	0	0	0	0	0	1	0	0	6785	838	29	2	1140	2	GPSM2	1	109446790	Nonsense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	93087125	109446790	139803831	4	17089											
PDE4DIP	9659	broad.mit.edu	37	chr1	144882464	144882464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttggtgggcatccactgtGaaggtagccccaaggtcaag	10	8	13	10	0	1	1	1	1	0	0	2	1	2	1	3	4	1	2	3	4	4	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:144882464G>A	ENST00000369359.4	-	27	4004	c.3966C>T	c.(3964-3966)ttC>ttT	p.F1322F	PDE4DIP_ENST00000530740.1_Silent_p.F1322F|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Silent_p.F1185F|PDE4DIP_ENST00000369356.4_Silent_p.F1185F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1185					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CATCCACTGTGAAGGTAGCCC	0.502			T	PDGFRB	MPD								7	107					0	0	0	0	A	144882464	G	A	144882464	2	1	88	1	0	0	0	0	0	0	0	1	11714	1281	45	2		2	PDE4DIP	1	144882464	Silent	SNP	G	TCGA-CN-5370-01A-01D-2012-08	35435674	144882464	104368157	5	17090											
FLG	2312	broad.mit.edu	37	chr1	152286300	152286300	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgacgagtgcctgattgTctggagctgtctgcagagtg	6	11	16	8	2	2	3	0	2	2	1	2	5	2	4	1	1	3	2	1	1	0	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:152286300T>C	ENST00000368799.1	-	3	1097	c.1062A>G	c.(1060-1062)agA>agG	p.R354R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	354	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTGATTGTCTGGAGCTGT	0.552									Ichthyosis				4	465					0	0	0	0	C	152286300	T	C	152286300	2	2	88	1	0	0	0	0	0	0	0	1	5967	1664	58	5		5	FLG	1	152286300	Silent	SNP	T	TCGA-CN-5370-01A-01D-2012-08	7403836	152286300	96964321	6	17091											
GATAD2B	57459	broad.mit.edu	37	chr1	153790617	153790618	+	Frame_Shift_Ins	INS	-	-	A																															tgggcaggagatggctgaacINSaatagatgctgcattctgta																										TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:153790617_153790618insA	ENST00000368655.4	-	5	870_871	c.627_628insT	c.(625-630)atttcafs	p.S210fs		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	210						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GATGGCTGAACAATAGATGCTG	0.475													26	126	---	---	---	---					A	153790618	-	A	153790617	7	5	88	1	0	1	1	0	0	0	0	0	6310	478	17	0	1181	0	GATAD2B	1	153790617	Frame_Shift_Ins	INS	-	TCGA-CN-5370-01A-01D-2012-08	1504317	153790617	95460004	7	17092											
ATP1A2	477	broad.mit.edu	37	chr1	160109515	160109515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcatgggtgtagccctcCgcatgtacccgctcaagtga	8	8	12	13	2	1	1	1	1	0	0	2	1	2	1	3	2	2	5	3	2	3	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:160109515C>T	ENST00000361216.3	+	21	3015	c.2926C>T	c.(2926-2928)Cgc>Tgc	p.R976C	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R976C	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	976					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGTAGCCCTCCGCATGTACCC	0.557													18	47					0	0	0	0	T	160109515	C	T	160109515	3	4	88	1	0	0	0	0	1	0	0	0	1133	652	23	1	3008	1	ATP1A2	1	160109515	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	6318898	160109515	89141106	8	17093											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185274695	185274696	+	Frame_Shift_Ins	INS	-	-	CT																															actgaatgtggtcatcatcaINSctgccaaacacctcagcctg																										TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:185274695_185274696insCT	ENST00000367498.3	-	8	1359_1360	c.737_738insAG	c.(736-738)agafs	p.R246fs	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Frame_Shift_Ins_p.R28fs	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	246	Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GGTCATCATCACTGCCAAACAC	0.416													11	67	---	---	---	---					CT	185274696	-	CT	185274695	7	5	88	1	0	1	1	0	0	0	0	0	7983	156	6	0	1222	0	IVNS1ABP	1	185274695	Frame_Shift_Ins	INS	-	TCGA-CN-5370-01A-01D-2012-08	25165180	185274695	63975926	9	17094											
SOX13	9580	broad.mit.edu	37	chr1	204082212	204082212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acccagcccgggcctcccagGatagtgctgacccccaagct	8	5	10	18	1	0	1	0	1	0	0	1	2	1	2	6	2	3	2	6	2	2	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:204082212G>A	ENST00000367204.1	+	2	278	c.169G>A	c.(169-171)Gat>Aat	p.D57N	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	57					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGCCTCCCAGGATAGTGCTGA	0.652													5	18					0	0	0	0	A	204082212	G	A	204082212	3	1	88	1	0	0	0	0	1	0	0	0	15032	1174	41	2	171	2	SOX13	1	204082212	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	18807517	204082212	45168409	10	17095											
RBM34	23029	broad.mit.edu	37	chr1	235324324	235324324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgaaataagctactggcgaCctgtccaagcctgtagtctt	10	10	10	11	2	1	0	0	0	1	0	2	2	2	0	3	1	3	2	3	1	5	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:235324324C>T	ENST00000408888.3	-	2	342	c.112G>A	c.(112-114)Gtc>Atc	p.V38I	RBM34_ENST00000366606.3_Missense_Mutation_p.V33I			P42696	RBM34_HUMAN	RNA binding motif protein 34	38						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CTACTGGCGACCTGTCCAAGC	0.597													4	64					0	0	0	0	T	235324324	C	T	235324324	3	4	88	1	0	0	0	0	1	0	0	0	13213	507	18	4	1241	4	RBM34	1	235324324	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	31242112	235324324	13926297	11	17096											
CEP170	9859	broad.mit.edu	37	chr1	243362360	243362360	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagtgactgagatttttttAcctgatgttccagcttcatg	9	16	8	8	0	1	3	1	3	0	1	2	4	2	3	2	0	2	2	2	0	1	6			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:243362360A>G	ENST00000366542.1	-	7	683		c.e7+1		CEP170_ENST00000366544.1_Splice_Site|CEP170_ENST00000366543.1_Splice_Site	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa							centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AGATTTTTTTACCTGATGTTC	0.403													5	36					0	0	0	0	G	243362360	A	G	243362360	5	3	88	1	0	0	0	0	0	0	1	0	3279	405	14	5	4207	5	CEP170	1	243362360	Splice_Site	SNP	A	TCGA-CN-5370-01A-01D-2012-08	8038036	243362360	5888261	12	17097											
OR2T12	127064	broad.mit.edu	37	chr1	248458187	248458187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcaaaggccttcttgcGggcttctgtagagcgcatga	7	10	15	9	2	2	2	0	1	2	1	2	2	2	2	1	4	2	4	1	4	2	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:248458187G>A	ENST00000317996.1	-	1	693	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCCTTCTTGCGGGCTTCTGTA	0.522													24	86					0	0	0	0	A	248458187	G	A	248458187	3	1	88	1	0	0	0	0	1	0	0	0	11090	1116	39	1	271	1	OR2T12	1	248458187	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	5095827	248458187	792434	13	17098											
NBAS	51594	broad.mit.edu	37	chr2	15417095	15417095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaataatactgcagcctttCgtgatcaaagccaccaatag	15	9	7	10	1	1	1	1	1	0	0	2	2	1	1	3	0	4	1	3	0	6	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:15417095C>T	ENST00000281513.5	-	43	5294	c.5269G>A	c.(5269-5271)Gaa>Aaa	p.E1757K	NBAS_ENST00000441750.1_Missense_Mutation_p.E1637K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1757										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCAGCCTTTCGTGATCAAAG	0.438													12	41					0	0	0	0	T	15417095	C	T	15417095	3	4	88	1	0	0	0	0	1	0	0	0	10256	893	31	1	1886	1	NBAS	2	15417095	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08		15417095	227782278	14	17099											
ALK	238	broad.mit.edu	37	chr2	29462560	29462560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acttacactggggcaggcgtCctctccctgctgcccaacca	7	8	9	17	1	1	0	0	0	1	0	3	0	2	0	4	3	4	2	4	3	2	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:29462560C>T	ENST00000389048.3	-	13	3247	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	781					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGGCAGGCGTCCTCTCCCTGC	0.602			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				14	52					0	0	0	0	T	29462560	C	T	29462560	3	4	88	1	0	0	0	0	1	0	0	0	525	855	30	2	2589	2	ALK	2	29462560	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	14045465	29462560	213736813	15	17100											
NLRC4	58484	broad.mit.edu	37	chr2	32477515	32477515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attcaagtcctgaaatagagGatagttccactccttaaggg	13	11	9	8	0	1	2	1	1	0	1	4	3	4	3	3	2	0	1	3	2	5	5			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:32477515G>A	ENST00000404025.2	-	4	723	c.235C>T	c.(235-237)Cct>Tct	p.P79S	NLRC4_ENST00000402280.1_Missense_Mutation_p.P79S|NLRC4_ENST00000360906.5_Missense_Mutation_p.P79S|NLRC4_ENST00000342905.6_Missense_Mutation_p.P79S			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	79	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.P79S(1)|p.P79T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAAATAGAGGATAGTTCCAC	0.413													9	62					0	0	0	0	A	32477515	G	A	32477515	3	1	88	1	0	0	0	0	1	0	0	0	10539	1174	41	2	2867	2	NLRC4	2	32477515	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	3014955	32477515	210721858	16	17101											
PNPT1	87178	broad.mit.edu	37	chr2	55895069	55895069	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaggattctattatttcaTatggatcggcttctggaaat	11	16	9	5	1	3	1	1	1	2	0	4	4	3	4	0	4	0	1	0	4	5	6			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:55895069T>G	ENST00000447944.2	-	12	1087	c.1001A>C	c.(1000-1002)tAt>tCt	p.Y334S		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	334					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TATTATTTCATATGGATCGGC	0.279													13	34					0	0	0	0	G	55895069	T	G	55895069	3	3	88	1	0	0	0	0	1	0	0	0	12245	1406	49	5	1418	5	PNPT1	2	55895069	Missense_Mutation	SNP	T	TCGA-CN-5370-01A-01D-2012-08	23417554	55895069	187304304	17	17102											
VWA3B	200403	broad.mit.edu	37	chr2	98914471	98914471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcacgcctgtggggggcGccatgccctgcccgctgctc	3	8	13	17	3	2	0	2	0	0	0	3	0	2	0	4	3	3	2	4	3	0	0			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:98914471G>A	ENST00000477737.1	+	24	3463	c.3259G>A	c.(3259-3261)Gcc>Acc	p.A1087T	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1087										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTGGGGGGCGCCATGCCCTG	0.587													21	89					0	0	0	0	A	98914471	G	A	98914471	3	1	88	1	0	0	0	0	1	0	0	0	17337	1087	38	1	3349	1	VWA3B	2	98914471	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	43019402	98914471	144284902	18	17103											
TTN	7273	broad.mit.edu	37	chr2	179474486	179474486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggcgttctctgctcgcaCacggaattggtactctttcc	5	12	10	14	5	2	0	0	0	2	0	5	1	3	1	1	3	2	4	1	3	2	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:179474486C>T	ENST00000589042.1	-	272	51888	c.51664G>A	c.(51664-51666)Gtg>Atg	p.V17222M	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V8282M|TTN_ENST00000342992.6_Missense_Mutation_p.V14654M|TTN_ENST00000460472.2_Missense_Mutation_p.V8157M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V15581M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V8349M|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15581	Fibronectin type-III 24.						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)			TCTGCTCGCACACGGAATTGG	0.483													15	411					0	0	0	0	T	179474486	C	T	179474486	3	4	88	1	0	0	0	0	1	0	0	0	16831	478	17	4	56393	4	TTN	2	179474486	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	80560015	179474486	63724887	19	17104											
HRH1	3269	broad.mit.edu	37	chr3	11300945	11300945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctctcggtggcggacttGatcgtgggtgccgtcgtcat	4	11	15	11	5	2	1	1	1	1	0	5	2	2	2	2	4	2	0	2	4	0	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr3:11300945G>A	ENST00000397056.1	+	3	413	c.222G>A	c.(220-222)ttG>ttA	p.L74L	HRH1_ENST00000438284.2_Silent_p.L74L|HRH1_ENST00000431010.2_Silent_p.L74L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	74					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TGGCGGACTTGATCGTGGGTG	0.577													13	97					0	0	0	0	A	11300945	G	A	11300945	2	1	88	1	0	0	0	0	0	0	0	1	7405	1281	45	2		2	HRH1	3	11300945	Silent	SNP	G	TCGA-CN-5370-01A-01D-2012-08		11300945	186721485	20	17105											
CD200R1L	344807	broad.mit.edu	37	chr3	112538730	112538730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacaacgctggagatcctGaggttctgagacctttaaat	12	10	11	8	1	1	3	0	2	1	2	2	6	2	4	2	3	1	2	2	3	3	3			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr3:112538730G>A	ENST00000488794.1	-	7	1218	c.629C>T	c.(628-630)tCa>tTa	p.S210L	CD200R1L_ENST00000448932.1_Missense_Mutation_p.S210L|CD200R1L_ENST00000398214.1_Missense_Mutation_p.S231L			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	231	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TGGAGATCCTGAGGTTCTGAG	0.353													8	58					0	0	0	0	A	112538730	G	A	112538730	3	1	88	1	0	0	0	0	1	0	0	0	3011	1294	45	2	131	2	CD200R1L	3	112538730	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	101237785	112538730	85483700	21	17106											
ZXDC	79364	broad.mit.edu	37	chr3	126180734	126180734	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgaagctgccctgctgcaGaaccgtggctgctgtcccga	7	8	12	14	2	0	2	0	1	0	1	1	3	1	2	3	1	6	5	3	1	2	0			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr3:126180734G>A	ENST00000389709.3	-	6	1824	c.1771C>T	c.(1771-1773)Ctg>Ttg	p.L591L	ZXDC_ENST00000336332.5_Silent_p.L591L	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	591	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CCCTGCTGCAGAACCGTGGCT	0.602													23	90					0	0	0	0	A	126180734	G	A	126180734	2	1	88	1	0	0	0	0	0	0	0	1	18343	933	33	2		2	ZXDC	3	126180734	Silent	SNP	G	TCGA-CN-5370-01A-01D-2012-08	13642004	126180734	71841696	22	17107											
ATP13A3	79572	broad.mit.edu	37	chr3	194126832	194126832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagcagcattttccccacCgatccactgactcctaagaa	12	9	6	14	1	0	2	0	1	0	1	3	3	3	2	5	0	2	3	5	0	3	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr3:194126832C>T	ENST00000439040.1	-	33	4288	c.3497G>A	c.(3496-3498)cGg>cAg	p.R1166Q	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R1166Q			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1166					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTTTCCCCACCGATCCACTGA	0.433													7	61					0	0	0	0	T	194126832	C	T	194126832	3	4	88	1	0	0	0	0	1	0	0	0	1129	652	23	1	187	1	ATP13A3	3	194126832	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	67946098	194126832	3895598	23	17108											
GK2	2712	broad.mit.edu	37	chr4	80328273	80328273	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaccctgaaaaggctgggAcaaagtaacagccataagaa	19	5	9	8	0	0	2	0	1	0	1	0	3	0	3	2	2	3	2	2	2	7	3			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr4:80328273A>G	ENST00000358842.3	-	1	1099	c.1082T>C	c.(1081-1083)gTc>gCc	p.V361A		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	361					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAAGGCTGGGACAAAGTAACA	0.413													17	89					0	0	0	0	G	80328273	A	G	80328273	3	3	88	1	0	0	0	0	1	0	0	0	6472	275	10	5	583	5	GK2	4	80328273	Missense_Mutation	SNP	A	TCGA-CN-5370-01A-01D-2012-08		80328273	110826003	24	17109											
HADH	3033	broad.mit.edu	37	chr4	108935703	108935703	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgtggagaatctgaaggtGaaaaacgagctcttcaaaag	16	8	11	6	2	3	3	1	2	2	1	4	5	3	3	0	2	2	1	0	2	6	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr4:108935703G>A	ENST00000505878.1	+	4	663	c.390G>A	c.(388-390)gtG>gtA	p.V130V	HADH_ENST00000403312.1_Silent_p.V185V|HADH_ENST00000309522.3_Silent_p.V126V|HADH_ENST00000454409.2_Silent_p.V130V|HADH_ENST00000603302.1_Silent_p.V126V			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	126					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	ATCTGAAGGTGAAAAACGAGC	0.448													19	87					0	0	0	0	A	108935703	G	A	108935703	2	1	88	1	0	0	0	0	0	0	0	1	6992	1277	45	2		2	HADH	4	108935703	Silent	SNP	G	TCGA-CN-5370-01A-01D-2012-08	28607430	108935703	82218573	25	17110											
FHDC1	85462	broad.mit.edu	37	chr4	153897721	153897721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcgagccagcagtgcccGggcccccaagaagcgcccag	9	1	15	16	3	0	1	0	0	0	1	0	3	0	1	5	2	4	1	5	2	2	0			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr4:153897721G>A	ENST00000511601.1	+	12	3466	c.3278G>A	c.(3277-3279)cGg>cAg	p.R1093Q	FHDC1_ENST00000260008.3_Missense_Mutation_p.R1093Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1093					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGCAGTGCCCGGGCCCCCAAG	0.682													5	29					0	0	0	0	A	153897721	G	A	153897721	3	1	88	1	0	0	0	0	1	0	0	0	5921	1116	39	1	3320	1	FHDC1	4	153897721	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	44962018	153897721	37256555	26	17111											
FAT1	2195	broad.mit.edu	37	chr4	187629576	187629580	+	Frame_Shift_Del	DEL	TTGTA	TTGTA	-																															cgttctcatcaaaagcagctTtgtacgctgtctgggtaaat																										TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr4:187629576_187629580delTTGTA	ENST00000441802.2	-	2	1611_1615	c.1402_1406delTACAA	c.(1402-1407)afs	p.YK468fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	468	Cadherin 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAAAGCAGCTTTGTACGCTGTCTGG	0.473										HNSCC(5;0.00058)			50	210	---	---	---	---					-	187629580	TTGTA	-	187629576	7	5	88	1	0	1	0	1	0	0	0	0	5734	1841	64	0	12464	0	FAT1	4	187629576	Frame_Shift_Del	DEL	TTGTA	TCGA-CN-5370-01A-01D-2012-08	33731855	187629576	3524700	27	17112											
CCDC125	202243	broad.mit.edu	37	chr5	68616363	68616363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgatcttgccaccttgCtcatgagccaaatgccgtct	8	13	8	12	1	3	3	1	3	2	0	3	3	3	3	4	0	4	1	4	0	1	3			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr5:68616363C>T	ENST00000396496.2	-	2	112	c.5G>A	c.(4-6)aGc>aAc	p.S2N	CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.S2N|CCDC125_ENST00000511257.1_5'UTR|CCDC125_ENST00000383374.2_Missense_Mutation_p.S2N			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	2						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TGCCACCTTGCTCATGAGCCA	0.448													13	60					0	0	0	0	T	68616363	C	T	68616363	3	4	88	1	0	0	0	0	1	0	0	0	2786	797	28	4	1574	4	CCDC125	5	68616363	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08		68616363	112298897	28	17113											
PCDHGC4	56098	broad.mit.edu	37	chr5	140866446	140866446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagctgtgctccgtcctcGggcccggcctggttccttat	2	12	11	16	3	0	0	0	0	0	0	5	0	4	0	6	3	2	3	6	3	1	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr5:140866446G>A	ENST00000306593.1	+	1	1706	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.R569L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGTCCTCGGGCCCGGCCT	0.572													30	101					0	0	0	0	A	140866446	G	A	140866446	3	1	88	1	0	0	0	0	1	0	0	0	11641	1116	39	1	1708	1	PCDHGC4	5	140866446	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	72250083	140866446	40048814	29	17114											
PDGFRB	5159	broad.mit.edu	37	chr5	149516594	149516594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagggccagagctggcatcGcacccggaagccgcatggtg	8	5	16	12	3	0	2	0	1	0	1	1	3	0	3	3	4	2	4	3	4	1	0	rs150173975	byFrequency	TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr5:149516594G>A	ENST00000261799.4	-	2	486	c.17C>T	c.(16-18)gCg>gTg	p.A6V		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	6					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTGGCATCGCACCCGGAAG	0.642			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								11	45					0	0	0	0	A	149516594	G	A	149516594	3	1	88	1	0	0	0	0	1	0	0	0	11733	1087	38	1	3391	1	PDGFRB	5	149516594	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	8650148	149516594	31398666	30	17115											
C6orf106	64771	broad.mit.edu	37	chr6	34614452	34614452	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctgctggggctgcacAtctggacgctgacatctgca	6	10	12	13	1	3	1	0	1	3	0	3	2	3	2	0	3	4	6	0	3	0	0			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:34614452A>C	ENST00000374023.3	-	3	680	c.437T>G	c.(436-438)aTg>aGg	p.M146R	C6orf106_ENST00000374021.1_Missense_Mutation_p.M72R|C6orf106_ENST00000374026.3_Intron	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	146										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						GGGGCTGCACATCTGGACGCT	0.522													18	234					0	0	0	0	C	34614452	A	C	34614452	3	2	88	1	0	0	0	0	1	0	0	0	2340	217	8	5	471	5	C6orf106	6	34614452	Missense_Mutation	SNP	A	TCGA-CN-5370-01A-01D-2012-08		34614452	136500615	31	17116											
FGD2	221472	broad.mit.edu	37	chr6	36989314	36989314	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagcagccattgaccaaatCgagaagcggaatgaaacctt	16	6	9	10	2	0	3	0	2	0	1	1	5	0	4	3	1	4	1	3	1	5	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:36989314C>T	ENST00000274963.8	+	12	1431	c.1260C>T	c.(1258-1260)atC>atT	p.I420I		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	420					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TTGACCAAATCGAGAAGCGGA	0.597											OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	26					0	0	0	0	T	36989314	C	T	36989314	2	4	88	1	0	0	0	0	0	0	0	1	5878	874	31	1		1	FGD2	6	36989314	Silent	SNP	C	TCGA-CN-5370-01A-01D-2012-08	2374862	36989314	134125753	32	17117											
LRFN2	57497	broad.mit.edu	37	chr6	40360623	40360623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaccaggttgttgaccaCgaaggccttgttggaggctg	8	10	14	9	1	0	2	0	2	0	0	0	4	0	3	3	4	0	4	3	4	1	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:40360623C>T	ENST00000338305.6	-	3	1971	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	477	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGTTGACCACGAAGGCCTTG	0.597													3	34					0	0	0	0	T	40360623	C	T	40360623	3	4	88	1	0	0	0	0	1	0	0	0	9002	536	19	1	944	1	LRFN2	6	40360623	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	3371309	40360623	130754444	33	17118											
DOPEY1	23033	broad.mit.edu	37	chr6	83832654	83832656	+	In_Frame_Del	DEL	TTA	TTA	-																															ctctttaattccttcgaaccTtattatatgtgggattatgt																										TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:83832654_83832656delTTA	ENST00000349129.2	+	12	1553_1555	c.1293_1295delTTA	c.(1291-1296)cct>cc	p.PY431del	DOPEY1_ENST00000369739.3_In_Frame_Del_p.PY422del|DOPEY1_ENST00000237163.5_In_Frame_Del_p.PY422del	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	431					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CCTTCGAACCTTATTATATGTGG	0.315													7	20	---	---	---	---					-	83832656	TTA	-	83832654	7	5	88	1	0	1	0	1	0	0	0	0	4743	1596	56	0	1331	0	DOPEY1	6	83832654	In_Frame_Del	DEL	TTA	TCGA-CN-5370-01A-01D-2012-08	43472031	83832654	87282413	34	17119											
SYNE1	23345	broad.mit.edu	37	chr6	152832220	152832220	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcagctatatcggtggagtTaatgttgactaatttaatct	12	16	8	5	1	2	1	1	1	1	0	3	2	2	2	0	2	1	3	0	2	5	7			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:152832220T>A	ENST00000367255.5	-	7	929	c.328A>T	c.(328-330)Aac>Tac	p.N110Y	SYNE1_ENST00000367248.3_Missense_Mutation_p.N117Y|SYNE1_ENST00000413186.2_Missense_Mutation_p.N110Y|SYNE1_ENST00000466159.2_Missense_Mutation_p.N110Y|SYNE1_ENST00000367253.4_Missense_Mutation_p.N110Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.N110Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.N117Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.N110Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.N117Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	110	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCGGTGGAGTTAATGTTGACT	0.328										HNSCC(10;0.0054)			32	109					0	0	0	0	A	152832220	T	A	152832220	3	1	88	1	0	0	0	0	1	0	0	0	15536	1754	61	5	26698	5	SYNE1	6	152832220	Missense_Mutation	SNP	T	TCGA-CN-5370-01A-01D-2012-08	68999566	152832220	18282847	35	17120											
TCP10	6953	broad.mit.edu	37	chr6	167787839	167787839	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccactcagccacctacCtgccgctctgcactgtctgg	7	8	9	17	1	3	0	1	0	2	0	3	1	3	0	5	1	5	2	5	1	2	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:167787839C>G	ENST00000366827.2	-	7	1000	c.789_splice	c.e7+1	p.Q263_splice	TCP10_ENST00000397829.4_Splice_Site_p.Q263_splice			Q12799	TCP10_HUMAN	t-complex 10	290						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		AGCCACCTACCTGCCGCTCTG	0.592													4	48					0	0	0	0	G	167787839	C	G	167787839	5	3	88	1	0	0	0	0	0	0	1	0	15804	695	24	4	199	4	TCP10	6	167787839	Splice_Site	SNP	C	TCGA-CN-5370-01A-01D-2012-08	14955619	167787839	3327228	36	17121											
DNAH11	8701	broad.mit.edu	37	chr7	21609805	21609806	+	Frame_Shift_Ins	INS	-	-	A																															aactcctttttcaactatagINSaaaaaaattggcaagctact																										TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:21609805_21609806insA	ENST00000328843.6	+	7	1344_1345	c.1313_1314insA	c.(1312-1314)aaafs	p.K438fs	DNAH11_ENST00000409508.3_Frame_Shift_Ins_p.K438fs			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	438	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R438T(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCAACTATAGAAAAAAATTGG	0.391									Kartagener syndrome				11	66	---	---	---	---					A	21609806	-	A	21609805	7	5	88	1	0	1	1	0	0	0	0	0	4636	942	33	0	1339	0	DNAH11	7	21609805	Frame_Shift_Ins	INS	-	TCGA-CN-5370-01A-01D-2012-08		21609805	137528858	37	17122											
RAPGEF5	9771	broad.mit.edu	37	chr7	22190076	22190076	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tatattcgaccagatgcctcGagggatttggagatgactaa	12	11	11	7	2	0	3	0	1	0	2	2	7	0	4	2	2	1	0	2	2	3	5			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:22190076G>C	ENST00000344041.6	-	18	1686	c.1374C>G	c.(1372-1374)ctC>ctG	p.L458L	RAPGEF5_ENST00000401957.2_Silent_p.L308L	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	308	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CAGATGCCTCGAGGGATTTGG	0.403													10	121					0	0	0	0	C	22190076	G	C	22190076	2	2	88	1	0	0	0	0	0	0	0	1	13129	1045	37	3		3	RAPGEF5	7	22190076	Silent	SNP	G	TCGA-CN-5370-01A-01D-2012-08	580271	22190076	136948587	38	17123											
OGDH	4967	broad.mit.edu	37	chr7	44684960	44684960	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttcgcaacacgaatgccgGagccccaccgggcactgcct	8	7	10	16	4	0	0	0	0	0	0	1	2	0	1	5	2	4	2	5	2	2	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:44684960G>C	ENST00000222673.5	+	3	299	c.257G>C	c.(256-258)gGa>gCa	p.G86A	OGDH_ENST00000444676.1_Missense_Mutation_p.G86A|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000443864.2_Missense_Mutation_p.G86A|OGDH_ENST00000449767.1_Missense_Mutation_p.G86A|OGDH_ENST00000447398.1_Missense_Mutation_p.G86A|OGDH_ENST00000543843.1_Missense_Mutation_p.G26A	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	86					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACGAATGCCGGAGCCCCACCG	0.582													21	162					0	0	0	0	C	44684960	G	C	44684960	3	2	88	1	0	0	0	0	1	0	0	0	10910	1174	41	2	263	2	OGDH	7	44684960	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	22494884	44684960	114453703	39	17124											
MYO1G	64005	broad.mit.edu	37	chr7	45010561	45010561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtcccggggtgtggccGtcagctcagccacatggtcc	5	7	15	14	3	2	0	2	0	0	0	4	1	4	0	4	5	2	1	4	5	0	0			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:45010561G>A	ENST00000258787.7	-	8	1080	c.944C>T	c.(943-945)aCg>aTg	p.T315M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	315	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGGTGTGGCCGTCAGCTCAGC	0.657													9	36					0	0	0	0	A	45010561	G	A	45010561	3	1	88	1	0	0	0	0	1	0	0	0	10144	1145	40	1	2172	1	MYO1G	7	45010561	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	325601	45010561	114128102	40	17125											
ELN	2006	broad.mit.edu	37	chr7	73474233	73474250	+	In_Frame_Del	DEL	GGCGTGGCTCCTGGAGTT	GGCGTGGCTCCTGGAGTT	-																															cagggttagttcctggtgtcGgcgtggctcctggagttggc																										TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:73474233_73474250delGGCGTGGCTCCTGGAGTT	ENST00000252034.7	+	23	1831_1848	c.1432_1449delGGCGTGGCTCCTGGAGTT	c.(1432-1449)del	p.GVAPGV490del	ELN_ENST00000357036.5_In_Frame_Del_p.GVAPGV495del|ELN_ENST00000320399.6_In_Frame_Del_p.GVAPGV490del|ELN_ENST00000320492.7_In_Frame_Del_p.GVAPGV409del|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_In_Frame_Del_p.GVAPGV490del|ELN_ENST00000429192.1_In_Frame_Del_p.GVAPGV476del|ELN_ENST00000380553.4_In_Frame_Del_p.GVAPGV354del|ELN_ENST00000414324.1_In_Frame_Del_p.GVAPGV466del|ELN_ENST00000380562.4_In_Frame_Del_p.GVAPGV496del|ELN_ENST00000380575.4_In_Frame_Del_p.GVAPGV461del|ELN_ENST00000380576.5_In_Frame_Del_p.GVAPGV471del|ELN_ENST00000380584.4_In_Frame_Del_p.GVAPGV457del|ELN_ENST00000358929.4_In_Frame_Del_p.GVAPGV525del|ELN_ENST00000458204.1_In_Frame_Del_p.GVAPGV480del	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	519	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	p.G478R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCTGGTGTCGGCGTGGCTCCTGGAGTTGGCGTGGCTC	0.587			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						80	366	---	---	---	---					-	73474250	GGCGTGGCTCCTGGAGTT	-	73474233	7	5	88	1	0	1	0	1	0	0	0	0	5109	1116	39	0	1537	0	ELN	7	73474233	In_Frame_Del	DEL	GGCGTGGCTCCTGGAGTT	TCGA-CN-5370-01A-01D-2012-08	28463672	73474233	85664430	41	17126											
PEX1	5189	broad.mit.edu	37	chr7	92146635	92146635	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctacatttttggtatatttGatggcattgttcaattcttc	8	21	6	6	0	3	1	1	1	2	0	4	1	3	1	0	2	1	3	0	2	4	10			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:92146635G>C	ENST00000541751.1	-	0	94				PEX1_ENST00000248633.4_Missense_Mutation_p.I398M|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.I398M			O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1						microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGGTATATTTGATGGCATTGT	0.343													22	110					0	0	0	0	C	92146635	G	C	92146635	1	2	88	1	0	0	0	0	0	0	0	0	11807	1280	45	2		2	PEX1	7	92146635	Translation_Start_Site	SNP	G	TCGA-CN-5370-01A-01D-2012-08	18672402	92146635	66992028	42	17127											
CBWD1	55871	broad.mit.edu	37	chr9	164038	164038	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatagaagccactgcacCtgaaaatatataatattcat	19	10	4	8	0	1	2	1	1	0	1	1	2	1	2	2	0	3	1	2	0	9	6			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284													3	55					0	0	0	0	G	164038	C	G	164038	5	3	88	1	0	0	0	0	0	0	1	0	2737	695	24	4	801	4	CBWD1	9	164038	Splice_Site	SNP	C	TCGA-CN-5370-01A-01D-2012-08		164038	141049393	43	17128											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	8	6	10	17	3	2	1	2	1	0	0	4	1	3	1	3	1	4	4	3	1	0	0	rs121913387		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			12	7					0	0	0	0	A	21971186	G	A	21971186	4	1	88	1	0	0	0	0	0	1	0	0	3190	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	21807148	21971186	119242245	44	17129											
CHMP5	51510	broad.mit.edu	37	chr9	33276501	33276501	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atggaagatgcaaatgaaatCcaagaagcactgagtcgcag	17	6	11	7	1	0	4	0	2	0	2	2	5	1	5	1	1	2	3	1	1	5	0			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:33276501C>G	ENST00000419016.2	+	6	475	c.435C>G	c.(433-435)atC>atG	p.I145M	CHMP5_ENST00000223500.8_Missense_Mutation_p.I145M	NM_001195536.1	NP_001182465.1	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	145	Interaction with VTA1.				cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			CAAATGAAATCCAAGAAGCAC	0.358													10	68					0	0	0	0	G	33276501	C	G	33276501	3	3	88	1	0	0	0	0	1	0	0	0	3388	845	30	2	457	2	CHMP5	9	33276501	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	11305315	33276501	107936930	45	17130											
UNC13B	10497	broad.mit.edu	37	chr9	35389842	35389842	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgtgtcctctggatcaaGaagcaggagctacctccaga	11	8	10	12	0	2	2	1	0	1	2	4	4	4	4	3	2	3	2	3	2	3	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:35389842G>C	ENST00000378495.3	+	24	3069		c.e24-1		UNC13B_ENST00000396787.1_Splice_Site|UNC13B_ENST00000378496.4_Splice_Site	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)						excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TCTGGATCAAGAAGCAGGAGC	0.498													18	196					0	0	0	0	C	35389842	G	C	35389842	5	2	88	1	0	0	0	0	0	0	1	0	17081	956	33	2	2941	2	UNC13B	9	35389842	Splice_Site	SNP	G	TCGA-CN-5370-01A-01D-2012-08	2113341	35389842	105823589	46	17131											
TLN1	7094	broad.mit.edu	37	chr9	35724572	35724572	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctagttctgcttacactCatcatctgtgtgcaatttct	7	19	5	10	0	6	0	2	0	4	0	6	0	6	0	0	0	3	3	0	0	3	5			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:35724572C>G	ENST00000314888.9	-	5	861	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	TLN1_ENST00000540444.1_Missense_Mutation_p.E170Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	170	FERM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTTACACTCATCATCTGTG	0.448													244	170					0	0	0	0	G	35724572	C	G	35724572	3	3	88	1	0	0	0	0	1	0	0	0	16041	835	29	2	7329	2	TLN1	9	35724572	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	334730	35724572	105488859	47	17132											
GBA2	57704	broad.mit.edu	37	chr9	35738809	35738809	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgaggtaatagtcccgAtaaacctgcagcacaaactt	13	8	8	12	2	0	1	0	1	0	0	1	2	1	1	3	1	4	3	3	1	5	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:35738809A>T	ENST00000378094.4	-	12	2400	c.1887T>A	c.(1885-1887)taT>taA	p.Y629*	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378103.3_Nonsense_Mutation_p.Y629*|GBA2_ENST00000545786.1_Nonsense_Mutation_p.Y635*			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	629					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AATAGTCCCGATAAACCTGCA	0.493													17	226					0	0	0	0	T	35738809	A	T	35738809	4	4	88	1	0	0	0	0	0	1	0	0	6316	340	12	5	920	5	GBA2	9	35738809	Nonsense_Mutation	SNP	A	TCGA-CN-5370-01A-01D-2012-08	14237	35738809	105474622	48	17133											
ANXA1	301	broad.mit.edu	37	chr9	75775272	75775272	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcaatttgatgctgatGaacttcgtgctgccatgaag	10	11	11	9	2	0	4	0	4	0	0	1	4	0	4	1	0	5	3	1	0	3	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:75775272G>T	ENST00000376911.1	+	4	1246	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	ANXA1_ENST00000257497.6_Nonsense_Mutation_p.E122*			P04083	ANXA1_HUMAN	annexin A1	122					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGATGCTGATGAACTTCGTGC	0.428													14	114					7.93312e-07	1.00967e-06	1	0	T	75775272	G	T	75775272	4	4	88	1	0	0	0	0	0	1	0	0	713	1291	45	2	378	2	ANXA1	9	75775272	Nonsense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	40036463	75775272	65438159	49	17134											
BAAT	570	broad.mit.edu	37	chr9	104130542	104130542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actggctaggaggctggcccGaaattcaagcagcccaccca	11	5	11	14	1	1	0	1	0	0	0	1	2	1	1	3	4	2	3	3	4	3	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:104130542G>A	ENST00000259407.2	-	3	637	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	BAAT_ENST00000395051.3_Missense_Mutation_p.R177W	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	177					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AGGCTGGCCCGAAATTCAAGC	0.478													7	42					0	0	0	0	A	104130542	G	A	104130542	3	1	88	1	0	0	0	0	1	0	0	0	1284	1057	37	1	735	1	BAAT	9	104130542	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	28355270	104130542	37082889	50	17135											
ABCA1	19	broad.mit.edu	37	chr9	107591238	107591238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccagcgctcacaagaagagGaatgaggctactaatgaacc	15	5	11	10	1	1	4	1	2	0	2	1	5	1	5	2	2	3	2	2	2	6	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:107591238G>T	ENST00000374736.3	-	15	2468	c.2074C>A	c.(2074-2076)Cct>Act	p.P692T	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	692					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACAAGAAGAGGAATGAGGCTA	0.542													10	45					1.08611e-07	1.39287e-07	1	0	T	107591238	G	T	107591238	3	4	88	1	0	0	0	0	1	0	0	0	28	1174	41	2	4855	2	ABCA1	9	107591238	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	3460696	107591238	33622193	51	17136											
OR1B1	347169	broad.mit.edu	37	chr9	125391138	125391138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtagaatagcggccccaattCggacataagagagtacaatg	15	7	11	8	2	0	2	0	0	0	2	1	4	0	3	2	2	2	2	2	2	7	5			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:125391138C>G	ENST00000304833.3	-	1	714	c.677G>C	c.(676-678)cGa>cCa	p.R226P	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GGCCCCAATTCGGACATAAGA	0.542													5	79					0	0	0	0	G	125391138	C	G	125391138	3	3	88	1	0	0	0	0	1	0	0	0	11022	884	31	3	282	3	OR1B1	9	125391138	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	17799900	125391138	15822293	52	17137											
IL2RA	3559	broad.mit.edu	37	chr10	6066285	6066285	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttctgttcttcaggttGaggtgtcacttgtttcgttg	3	21	10	7	1	5	1	2	1	3	0	6	1	5	1	0	2	0	4	0	2	0	8			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr10:6066285G>C	ENST00000379959.3	-	3	462	c.289C>G	c.(289-291)Caa>Gaa	p.Q97E	IL2RA_ENST00000379954.1_Missense_Mutation_p.Q97E|IL2RA_ENST00000256876.6_Missense_Mutation_p.Q97E	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	97					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCTTCAGGTTGAGGTGTCACT	0.423													6	46					0	0	0	0	C	6066285	G	C	6066285	3	2	88	1	0	0	0	0	1	0	0	0	7739	1299	45	2	553	2	IL2RA	10	6066285	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08		6066285	129468462	53	17138											
ITGA8	8516	broad.mit.edu	37	chr10	15628625	15628625	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtgatgttgatttgcAggctcacaaaattgctgtct	10	13	10	8	0	2	2	1	2	1	0	2	2	2	2	0	1	3	5	0	1	2	3			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr10:15628625A>G	ENST00000378076.3	-	23	2683	c.2330T>C	c.(2329-2331)cTg>cCg	p.L777P		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	777					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTGATTTGCAGGCTCACAAA	0.358													8	34					0	0	0	0	G	15628625	A	G	15628625	3	3	88	1	0	0	0	0	1	0	0	0	7935	188	7	5	893	5	ITGA8	10	15628625	Missense_Mutation	SNP	A	TCGA-CN-5370-01A-01D-2012-08	9562340	15628625	119906122	54	17139											
LDB3	11155	broad.mit.edu	37	chr10	88452313	88452313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaccctgatgaagaagCtctgcgaaggtcaaggtaag	14	6	13	8	1	2	4	1	2	1	2	2	5	2	4	1	2	2	3	1	2	6	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr10:88452313C>T	ENST00000429277.2	+	8	1230	c.1085C>T	c.(1084-1086)gCt>gTt	p.A362V	LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000263066.6_Missense_Mutation_p.A247V|LDB3_ENST00000372066.3_Missense_Mutation_p.A247V|LDB3_ENST00000361373.4_Missense_Mutation_p.A294V|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372056.4_Missense_Mutation_p.A362V|LDB3_ENST00000310944.6_Missense_Mutation_p.A294V|LDB3_ENST00000458213.2_Missense_Mutation_p.A247V	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	361						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GATGAAGAAGCTCTGCGAAGG	0.602													15	86					0	0	0	0	T	88452313	C	T	88452313	3	4	88	1	0	0	0	0	1	0	0	0	8750	797	28	4	1138	4	LDB3	10	88452313	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	72823688	88452313	47082434	55	17140											
NOLC1	9221	broad.mit.edu	37	chr10	103921945	103921945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaagtcctttcggcatgaGaaaaccaagaagaagcgggg	14	5	14	8	2	0	3	0	1	0	3	2	4	1	3	2	4	2	2	2	4	6	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr10:103921945G>A	ENST00000405356.1	+	13	2284	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E	NOLC1_ENST00000477977.1_Intron|NOLC1_ENST00000603742.1_Silent_p.E392E|NOLC1_ENST00000488254.2_Silent_p.E674E|NOLC1_ENST00000605788.1_Silent_p.E673E			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	673					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TTCGGCATGAGAAAACCAAGA	0.527													55	288					0	0	0	0	A	103921945	G	A	103921945	2	1	88	1	0	0	0	0	0	0	0	1	10599	933	33	2		2	NOLC1	10	103921945	Silent	SNP	G	TCGA-CN-5370-01A-01D-2012-08	15469632	103921945	31612802	56	17141											
MUC5B	727897	broad.mit.edu	37	chr11	1271810	1271810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctccacagtgcttaccgCcacggccaccacaaccgggg	9	4	9	19	3	0	0	0	0	0	0	1	0	1	0	7	3	3	1	7	3	2	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr11:1271810C>A	ENST00000447027.1	+	31	13767	c.13709C>A	c.(13708-13710)gCc>gAc	p.A4570D	MUC5B_ENST00000529681.1_Missense_Mutation_p.A4567D			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4567	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCTTACCGCCACGGCCACC	0.647													83	240					4.18771e-30	5.67367e-30	1	0	A	1271810	C	A	1271810	3	1	88	1	0	0	0	0	1	0	0	0	10049	739	26	4	13831	4	MUC5B	11	1271810	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08		1271810	133734706	57	17142											
NLRP14	338323	broad.mit.edu	37	chr11	7059962	7059962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcctgacaccctggaatGaagtgaagaaggccaggcgg	12	5	15	9	1	0	4	0	3	0	1	0	5	0	5	3	5	0	0	3	5	4	0			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr11:7059962G>A	ENST00000299481.4	+	2	491	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	49	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACCCTGGAATGAAGTGAAGAA	0.438													10	85					0	0	0	0	A	7059962	G	A	7059962	3	1	88	1	0	0	0	0	1	0	0	0	10546	1291	45	2	147	2	NLRP14	11	7059962	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	5788152	7059962	127946554	58	17143											
E2F8	79733	broad.mit.edu	37	chr11	19259523	19259523	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggttggctgtcggtgTccacggctctccctgagagc	4	12	13	12	2	2	1	1	1	1	1	5	2	3	1	2	4	1	3	2	4	0	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr11:19259523T>C	ENST00000527884.1	-	3	404	c.172A>G	c.(172-174)Aca>Gca	p.T58A	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.T58A	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	58					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTGTCGGTGTCCACGGCTCT	0.517													3	172					0	0	0	0	C	19259523	T	C	19259523	3	2	88	1	0	0	0	0	1	0	0	0	4909	1667	58	5	2475	5	E2F8	11	19259523	Missense_Mutation	SNP	T	TCGA-CN-5370-01A-01D-2012-08	12199561	19259523	115746993	59	17144											
LRP4	4038	broad.mit.edu	37	chr11	46917452	46917452	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttggcacgtgtgcccaTcctctgtgagccggtagcct	5	10	11	15	2	1	1	0	1	1	0	2	1	2	1	5	2	3	2	5	2	1	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr11:46917452T>A	ENST00000378623.1	-	10	1408	c.1166A>T	c.(1165-1167)gAt>gTt	p.D389V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	389	EGF-like 1; calcium-binding (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGTGTGCCCATCCTCTGTGAG	0.612													22	82					0	0	0	0	A	46917452	T	A	46917452	3	1	88	1	0	0	0	0	1	0	0	0	9023	1435	50	5	4667	5	LRP4	11	46917452	Missense_Mutation	SNP	T	TCGA-CN-5370-01A-01D-2012-08	27657929	46917452	88089064	60	17145											
SLCO2B1	11309	broad.mit.edu	37	chr11	74880401	74880401	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccattcagccctttggcaTctcctacatcgatgactttg	7	13	7	14	1	2	1	1	1	1	0	4	2	2	1	3	1	2	1	3	1	1	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr11:74880401T>G	ENST00000289575.5	+	5	1027	c.632T>G	c.(631-633)aTc>aGc	p.I211S	SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.I67S|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.I189S|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.I95S	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	211					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CCCTTTGGCATCTCCTACATC	0.597													9	92					0	0	0	0	G	74880401	T	G	74880401	3	3	88	1	0	0	0	0	1	0	0	0	14815	1435	50	5	650	5	SLCO2B1	11	74880401	Missense_Mutation	SNP	T	TCGA-CN-5370-01A-01D-2012-08	27962949	74880401	60126115	61	17146											
GRIN2B	2904	broad.mit.edu	37	chr12	13717534	13717534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagttcattacagactggcGctcctcgatcgccaccccat	8	9	9	15	3	1	1	1	0	0	1	4	3	2	2	4	2	1	2	4	2	1	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:13717534G>A	ENST00000279593.3	-	13	2847	c.2638C>T	c.(2638-2640)Cgc>Tgc	p.R880C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	880					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACAGACTGGCGCTCCTCGATC	0.537													24	125					0	0	0	0	A	13717534	G	A	13717534	3	1	88	1	0	0	0	0	1	0	0	0	6830	1087	38	1	1820	1	GRIN2B	12	13717534	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08		13717534	120134361	62	17147											
PTPRO	5800	broad.mit.edu	37	chr12	15722430	15722430	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaattttctcttcagtttGaggtgagttggttaaggcat	10	17	10	4	0	2	2	1	2	1	0	3	2	2	2	0	3	0	4	0	3	3	7			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:15722430G>C	ENST00000281171.4	+	19	3157	c.2827G>C	c.(2827-2829)Gag>Cag	p.E943Q	PTPRO_ENST00000442921.2_Missense_Mutation_p.E132Q|PTPRO_ENST00000348962.2_Missense_Mutation_p.E915Q|PTPRO_ENST00000445537.2_Missense_Mutation_p.E132Q|PTPRO_ENST00000544244.1_Missense_Mutation_p.E104Q|PTPRO_ENST00000542557.1_Missense_Mutation_p.E104Q	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	943	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCTTCAGTTTGAGGTGAGTTG	0.448													4	49					0	0	0	0	C	15722430	G	C	15722430	3	2	88	1	0	0	0	0	1	0	0	0	12891	1291	45	2	2901	2	PTPRO	12	15722430	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	2004896	15722430	118129465	63	17148											
TPH2	121278	broad.mit.edu	37	chr12	72425343	72425343	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtcccttctcagtatacttCaatccctacacacagagtat	11	12	4	14	1	2	1	2	0	1	1	5	1	4	1	2	0	2	2	2	0	5	6			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:72425343C>T	ENST00000333850.3	+	11	1482	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	447					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CAGTATACTTCAATCCCTACA	0.423													8	55					0	0	0	0	T	72425343	C	T	72425343	2	4	88	1	0	0	0	0	0	0	0	1	16497	825	29	2		2	TPH2	12	72425343	Silent	SNP	C	TCGA-CN-5370-01A-01D-2012-08	56702913	72425343	61426552	64	17149											
RFX4	5992	broad.mit.edu	37	chr12	107126831	107126831	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcccctgttagcaatcCttcccctgagtacactggcc	6	12	6	17	0	1	1	0	1	1	0	4	1	4	1	6	1	2	3	6	1	3	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:107126831C>A	ENST00000392842.1	+	15	2015	c.1601C>A	c.(1600-1602)cCt>cAt	p.P534H	RFX4_ENST00000229387.5_Missense_Mutation_p.P440H|RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000357881.4_Missense_Mutation_p.P543H|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	534					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GTTAGCAATCCTTCCCCTGAG	0.517													5	188					0.00116845	0.00142246	1	0	A	107126831	C	A	107126831	3	1	88	1	0	0	0	0	1	0	0	0	13347	681	24	4	1832	4	RFX4	12	107126831	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	34701488	107126831	26725064	65	17150											
SSH1	54434	broad.mit.edu	37	chr12	109201543	109201543	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatgagagctacacccccGgggaagtagttgtgcctccg	9	7	13	12	2	0	2	0	1	0	2	1	4	1	3	4	2	3	3	4	2	3	3			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:109201543G>A	ENST00000326495.5	-	8	690	c.597C>T	c.(595-597)ccC>ccT	p.P199P	SSH1_ENST00000551165.1_Silent_p.P199P|SSH1_ENST00000326470.5_Silent_p.P210P|SSH1_ENST00000360239.3_5'UTR	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	199					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTACACCCCCGGGGAAGTAGT	0.612													25	68					0	0	0	0	A	109201543	G	A	109201543	2	1	88	1	0	0	0	0	0	0	0	1	15274	1103	39	1		1	SSH1	12	109201543	Silent	SNP	G	TCGA-CN-5370-01A-01D-2012-08	2074712	109201543	24650352	66	17151											
TPTE2	93492	broad.mit.edu	37	chr13	20041462	20041462	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtatctaaaatgttaaataAgtcagaaaaatactgctgtc	18	12	6	5	0	2	1	1	0	1	1	3	1	2	1	0	0	2	3	0	0	9	5			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr13:20041462A>G	ENST00000400230.2	-	7	459	c.415T>C	c.(415-417)Tta>Cta	p.L139L	TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Silent_p.L139L|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	139						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATGTTAAATAAGTCAGAAAAA	0.303													8	28					0	0	0	0	G	20041462	A	G	20041462	2	3	88	1	0	0	0	0	0	0	0	1	16526	69	3	5		5	TPTE2	13	20041462	Silent	SNP	A	TCGA-CN-5370-01A-01D-2012-08		20041462	95128416	67	17152											
DZIP1	22873	broad.mit.edu	37	chr13	96237020	96237020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccccttaggattaaatgCgccccaggcatttagcacat	10	10	9	12	1	0	0	0	0	0	0	0	1	0	1	4	3	2	2	4	3	4	4	rs147653120		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr13:96237020C>T	ENST00000347108.3	-	20	2926	c.2494G>A	c.(2494-2496)Gca>Aca	p.A832T	DZIP1_ENST00000361156.3_Missense_Mutation_p.A813T|DZIP1_ENST00000376829.2_Missense_Mutation_p.A832T|DZIP1_ENST00000361396.2_Missense_Mutation_p.A813T			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	832					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GGATTAAATGCGCCCCAGGCA	0.408													38	90					0	0	0	0	T	96237020	C	T	96237020	3	4	88	1	0	0	0	0	1	0	0	0	4899	768	27	1	117	1	DZIP1	13	96237020	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	76195558	96237020	18932858	68	17153											
TMTC4	84899	broad.mit.edu	37	chr13	101289875	101289875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcccatgatcctccagcGcacgtagagcatcccagccc	8	6	9	18	3	0	2	0	1	0	1	3	2	3	2	5	0	4	3	5	0	1	1	rs141063052		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr13:101289875G>A	ENST00000342624.5	-	9	1174	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C	TMTC4_ENST00000328767.5_Missense_Mutation_p.R176C|TMTC4_ENST00000376234.3_Missense_Mutation_p.R287C|TMTC4_ENST00000462211.1_5'UTR	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	287						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATCCTCCAGCGCACGTAGAGC	0.627													10	126					0	0	0	0	A	101289875	G	A	101289875	3	1	88	1	0	0	0	0	1	0	0	0	16357	1087	38	1	1410	1	TMTC4	13	101289875	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	5052855	101289875	13880003	69	17154											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20781879	20781879	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccttgctttgtatttgctGagtatatatcttctccatct	7	20	5	9	0	3	1	0	1	3	0	5	1	4	1	2	0	2	4	2	0	4	8			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr14:20781879G>A	ENST00000398169.3	-	6	995	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	CCNB1IP1_ENST00000437553.2_Nonsense_Mutation_p.Q127*|CCNB1IP1_ENST00000398160.2_Nonsense_Mutation_p.Q127*|CCNB1IP1_ENST00000358932.4_Nonsense_Mutation_p.Q127*|CCNB1IP1_ENST00000353689.4_Nonsense_Mutation_p.Q127*|CCNB1IP1_ENST00000398163.2_Nonsense_Mutation_p.Q127*			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	127						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TGTATTTGCTGAGTATATATC	0.383			T	HMGA2	leiomyoma								6	46					0	0	0	0	A	20781879	G	A	20781879	4	1	88	1	0	0	0	0	0	1	0	0	2941	1299	45	2	462	2	CCNB1IP1	14	20781879	Nonsense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08		20781879	86567661	70	17155											
OR6S1	341799	broad.mit.edu	37	chr14	21109439	21109439	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcacacagccccactcaTgagcaaggggtagcgcagag	14	3	12	12	1	1	2	1	1	0	1	1	2	1	2	2	2	4	4	2	2	3	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr14:21109439T>C	ENST00000320704.3	-	1	411	c.412A>G	c.(412-414)Atg>Gtg	p.M138V		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GCCCCACTCATGAGCAAGGGG	0.587													14	54					0	0	0	0	C	21109439	T	C	21109439	3	2	88	1	0	0	0	0	1	0	0	0	11280	1464	51	5	587	5	OR6S1	14	21109439	Missense_Mutation	SNP	T	TCGA-CN-5370-01A-01D-2012-08	327560	21109439	86240101	71	17156											
ZFP36L1	677	broad.mit.edu	37	chr14	69257036	69257036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctcgcgagctcagagcGggggctggctcacccttgag	5	8	15	13	3	3	2	2	1	1	1	4	3	3	2	1	3	2	3	1	3	0	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr14:69257036G>A	ENST00000439696.2	-	2	532	c.231C>T	c.(229-231)ccC>ccT	p.P77P	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.P77P	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	77					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P77fs*67(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGCTCAGAGCGGGGGCTGGCT	0.692											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	47					0	0	0	0	A	69257036	G	A	69257036	2	1	88	1	0	0	0	0	0	0	0	1	17741	1103	39	1		1	ZFP36L1	14	69257036	Silent	SNP	G	TCGA-CN-5370-01A-01D-2012-08	48147597	69257036	38092504	72	17157											
EXD2	55218	broad.mit.edu	37	chr14	69701563	69701563	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaaatgccagggtgtggtCgacatcccatttcgaagcaa	13	8	11	9	2	0	0	0	0	0	0	3	3	1	0	2	2	2	1	2	2	4	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr14:69701563C>T	ENST00000409014.1	+	7	1146	c.489C>T	c.(487-489)gtC>gtT	p.V163V	EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409949.1_Silent_p.V163V|EXD2_ENST00000409242.1_Silent_p.V163V|EXD2_ENST00000449989.1_Silent_p.V163V|EXD2_ENST00000409675.1_Silent_p.V163V|EXD2_ENST00000312994.5_Silent_p.V288V|EXD2_ENST00000409018.3_Silent_p.V288V	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	163					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						AGGGTGTGGTCGACATCCCAT	0.433													13	55					0	0	0	0	T	69701563	C	T	69701563	2	4	88	1	0	0	0	0	0	0	0	1	5335	871	31	1		1	EXD2	14	69701563	Silent	SNP	C	TCGA-CN-5370-01A-01D-2012-08	444527	69701563	37647977	73	17158											
DYNC1H1	1778	broad.mit.edu	37	chr14	102516786	102516786	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcaggtaaccttacctgtCtacctgaacttcacccgtgc	8	11	7	15	1	2	1	1	1	1	0	2	1	2	1	4	1	6	2	4	1	4	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr14:102516786C>G	ENST00000360184.4	+	78	13991	c.13827C>G	c.(13825-13827)gtC>gtG	p.V4609V	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4609					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCTTACCTGTCTACCTGAACT	0.542													34	266					0	0	0	0	G	102516786	C	G	102516786	2	3	88	1	0	0	0	0	0	0	0	1	4877	900	32	2		2	DYNC1H1	14	102516786	Silent	SNP	C	TCGA-CN-5370-01A-01D-2012-08	32815223	102516786	4832754	74	17159											
TRPM1	4308	broad.mit.edu	37	chr15	31294456	31294456	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtcaattgctggtccgtgaTtgaactgtactctacatcct	8	14	8	11	2	2	2	1	2	1	0	4	2	4	2	2	1	4	2	2	1	4	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:31294456T>C	ENST00000542188.1	-	27	4811	c.4498A>G	c.(4498-4500)Atc>Gtc	p.I1500V	TRPM1_ENST00000256552.6_Missense_Mutation_p.I1483V|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.I1461V	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1461					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGGTCCGTGATTGAACTGTAC	0.468													35	120					0	0	0	0	C	31294456	T	C	31294456	3	2	88	1	0	0	0	0	1	0	0	0	16680	1493	52	5	434	5	TRPM1	15	31294456	Missense_Mutation	SNP	T	TCGA-CN-5370-01A-01D-2012-08		31294456	71236936	75	17160											
ATP8B4	79895	broad.mit.edu	37	chr15	50212513	50212513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcttctgtggcagcattcGcatcttcaagcatcttatgc	7	15	7	12	1	5	0	1	0	4	0	7	0	5	0	0	1	3	4	0	1	2	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:50212513G>A	ENST00000284509.6	-	18	1994	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V	ATP8B4_ENST00000559829.1_Missense_Mutation_p.A618V	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	618					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.A618V(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGCAGCATTCGCATCTTCAAG	0.448													9	84					0	0	0	0	A	50212513	G	A	50212513	3	1	88	1	0	0	0	0	1	0	0	0	1201	1087	38	1	1769	1	ATP8B4	15	50212513	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	18918057	50212513	52318879	76	17161											
UACA	55075	broad.mit.edu	37	chr15	70960742	70960742	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttctattaagatcatcaaTaattgcatcatgtgactttt	12	18	4	7	0	4	2	3	1	1	1	4	2	4	2	0	0	1	1	0	0	4	7			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:70960742T>C	ENST00000322954.6	-	16	2466	c.2281A>G	c.(2281-2283)Att>Gtt	p.I761V	UACA_ENST00000379983.2_Missense_Mutation_p.I748V|UACA_ENST00000560441.1_Missense_Mutation_p.I746V|UACA_ENST00000539319.1_Missense_Mutation_p.I652V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	761						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGATCATCAATAATTGCATCA	0.303													11	37					0	0	0	0	C	70960742	T	C	70960742	3	2	88	1	0	0	0	0	1	0	0	0	16920	1406	49	5	1985	5	UACA	15	70960742	Missense_Mutation	SNP	T	TCGA-CN-5370-01A-01D-2012-08	20748229	70960742	31570650	77	17162											
TMEM202	338949	broad.mit.edu	37	chr15	72698993	72698993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatctctgtctttaccataCttactggccttggctggctc	5	16	7	13	0	3	0	1	0	2	0	5	0	3	0	2	3	3	2	2	3	3	5			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:72698993C>T	ENST00000341689.3	+	3	442	c.388C>T	c.(388-390)Ctt>Ttt	p.L130F	TMEM202_ENST00000567679.1_Silent_p.Y44Y	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	130						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTTTACCATACTTACTGGCCT	0.478													20	122					0	0	0	0	T	72698993	C	T	72698993	3	4	88	1	0	0	0	0	1	0	0	0	16221	565	20	4	398	4	TMEM202	15	72698993	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	1738251	72698993	29832399	78	17163											
KIAA1199	57214	broad.mit.edu	37	chr15	81173350	81173350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctctcctggacatttCtgaacaagacccttcaccca	13	9	5	14	0	3	2	1	1	2	1	4	3	3	3	3	1	2	1	3	1	4	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:81173350C>A	ENST00000394685.3	+	6	909	c.490C>A	c.(490-492)Ctg>Atg	p.L164M	KIAA1199_ENST00000356249.5_Missense_Mutation_p.L164M|KIAA1199_ENST00000220244.3_Missense_Mutation_p.L164M			Q8WUJ3	K1199_HUMAN	KIAA1199	164	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGGACATTTCTGAACAAGAC	0.493													24	129					7.33532e-06	9.19652e-06	1	0	A	81173350	C	A	81173350	3	1	88	1	0	0	0	0	1	0	0	0	8264	912	32	2	504	2	KIAA1199	15	81173350	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	8474357	81173350	21358042	79	17164											
CHSY1	22856	broad.mit.edu	37	chr15	101775715	101775715	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagtggcactactggaattgGtacagatgtgtcagaaccct	11	11	11	8	0	1	2	1	0	0	2	1	3	1	3	1	3	3	2	1	3	5	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:101775715G>C	ENST00000254190.3	-	2	863	c.388C>G	c.(388-390)Cca>Gca	p.P130A		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	130					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACTGGAATTGGTACAGATGTG	0.458													25	102					0	0	0	0	C	101775715	G	C	101775715	3	2	88	1	0	0	0	0	1	0	0	0	3441	1261	44	4	2028	4	CHSY1	15	101775715	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	20602365	101775715	755677	80	17165											
MEFV	4210	broad.mit.edu	37	chr16	3293589	3293589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagctgtcaaatctttgcGggccatcaggcagcctctcc	8	10	9	14	1	4	0	2	0	2	0	5	0	4	0	3	2	4	2	3	2	2	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:3293589G>T	ENST00000219596.1	-	10	1937	c.1898C>A	c.(1897-1899)cCg>cAg	p.P633Q	MEFV_ENST00000536379.1_Missense_Mutation_p.P422Q|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Missense_Mutation_p.P453Q	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.P633Q(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	AAATCTTTGCGGGCCATCAGG	0.517													4	342					0.00909568	0.0109148	1	0	T	3293589	G	T	3293589	3	4	88	1	0	0	0	0	1	0	0	0	9528	1116	39	3	451	3	MEFV	16	3293589	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08		3293589	87061164	81	17166											
ADCY9	115	broad.mit.edu	37	chr16	4164292	4164292	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgatctgctgcatcttaaaAgggcggaaggctataggagc	11	9	13	8	2	2	0	0	0	2	0	3	3	2	2	0	4	3	3	0	4	5	3			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:4164292A>G	ENST00000294016.3	-	2	1690	c.1152T>C	c.(1150-1152)ccT>ccC	p.P384P		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	384					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCATCTTAAAAGGGCGGAAGG	0.488													3	133					0	0	0	0	G	4164292	A	G	4164292	2	3	88	1	0	0	0	0	0	0	0	1	301	59	3	5		5	ADCY9	16	4164292	Silent	SNP	A	TCGA-CN-5370-01A-01D-2012-08	870703	4164292	86190461	82	17167											
ADCY9	115	broad.mit.edu	37	chr16	4164320	4164320	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctataggagctttttggAtggaagactttttcttcctg	8	16	11	6	0	1	1	0	0	1	1	2	4	2	4	1	4	1	2	1	4	3	7			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:4164320A>T	ENST00000294016.3	-	2	1662	c.1124T>A	c.(1123-1125)aTc>aAc	p.I375N		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	375					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGCTTTTTGGATGGAAGACTT	0.463													33	111					0	0	0	0	T	4164320	A	T	4164320	3	4	88	1	0	0	0	0	1	0	0	0	301	333	12	5	2977	5	ADCY9	16	4164320	Missense_Mutation	SNP	A	TCGA-CN-5370-01A-01D-2012-08	28	4164320	86190433	83	17168											
ABCC12	94160	broad.mit.edu	37	chr16	48173139	48173139	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgggccccagaatgaaaaAggcgtacgccgcacaaaaga	15	4	12	10	3	0	3	0	1	0	2	0	3	0	3	3	2	1	2	3	2	6	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:48173139A>G	ENST00000311303.3	-	5	1111	c.766T>C	c.(766-768)Ttt>Ctt	p.F256L	ABCC12_ENST00000448542.1_Missense_Mutation_p.F256L|ABCC12_ENST00000416054.1_Missense_Mutation_p.F256L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	256	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGAATGAAAAAGGCGTACGCC	0.473													3	114					0	0	0	0	G	48173139	A	G	48173139	3	3	88	1	0	0	0	0	1	0	0	0	52	72	3	5	3413	5	ABCC12	16	48173139	Missense_Mutation	SNP	A	TCGA-CN-5370-01A-01D-2012-08	44008819	48173139	42181614	84	17169											
NFATC3	4775	broad.mit.edu	37	chr16	68156924	68156924	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagatgatggccttggatctCagtatcctttaaagaaagat	13	13	9	6	0	1	4	1	1	1	3	3	5	2	5	2	2	0	1	2	2	5	5			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:68156924C>G	ENST00000349223.5	+	2	1362	c.1138C>G	c.(1138-1140)Cag>Gag	p.Q380E	NFATC3_ENST00000346183.3_Missense_Mutation_p.Q380E|NFATC3_ENST00000329524.4_Missense_Mutation_p.Q380E|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.Q380E	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	380					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CCTTGGATCTCAGTATCCTTT	0.453													20	115					0	0	0	0	G	68156924	C	G	68156924	3	3	88	1	0	0	0	0	1	0	0	0	10434	827	29	2	1144	2	NFATC3	16	68156924	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	19983785	68156924	22197829	85	17170											
CA5A	763	broad.mit.edu	37	chr16	87960541	87960541	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggagaccgggaccgtccaGagtgggtgcactgcagggag	9	4	18	10	3	0	2	0	0	0	2	1	5	1	4	3	4	2	2	3	4	0	0			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:87960541G>C	ENST00000309893.2	-	2	218	c.153C>G	c.(151-153)ctC>ctG	p.L51L	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	51					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		GGACCGTCCAGAGTGGGTGCA	0.632													2	7					0	0	0	0	C	87960541	G	C	87960541	2	2	88	1	0	0	0	0	0	0	0	1	2544	929	33	2		2	CA5A	16	87960541	Silent	SNP	G	TCGA-CN-5370-01A-01D-2012-08	19803617	87960541	2394212	86	17171											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	58					0	0	0	0	T	7578406	C	T	7578406	3	4	88	1	0	0	0	0	1	0	0	0	16476	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08		7578406	73616804	87	17172											
TP53	7157	broad.mit.edu	37	chr17	7578555	7578555	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgagggcaggggagtaCtgtaggaagaggaaggagac	12	7	19	3	0	0	3	0	1	0	2	0	7	0	6	0	6	1	4	0	6	4	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:7578555C>T	ENST00000420246.2	-	5	508		c.e5-1		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGGGAGTACTGTAGGAAGA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	22					0	0	0	0	T	7578555	C	T	7578555	5	4	88	1	0	0	0	0	0	0	1	0	16476	579	20	4	923	4	TP53	17	7578555	Splice_Site	SNP	C	TCGA-CN-5370-01A-01D-2012-08	149	7578555	73616655	88	17173											
DNAH9	1770	broad.mit.edu	37	chr17	11556233	11556233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggaaaaagggaatcccttCtttctctggatgatcggcat	11	12	10	8	1	2	1	0	1	2	0	5	4	3	4	1	4	0	1	1	4	3	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:11556233C>G	ENST00000262442.3	+	14	2577	c.2509C>G	c.(2509-2511)Ctt>Gtt	p.L837V	DNAH9_ENST00000454412.2_Missense_Mutation_p.L837V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	837	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGAATCCCTTCTTTCTCTGGA	0.388													18	53					0	0	0	0	G	11556233	C	G	11556233	3	3	88	1	0	0	0	0	1	0	0	0	4644	913	32	2	2563	2	DNAH9	17	11556233	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	3977678	11556233	69638977	89	17174											
NEK8	284086	broad.mit.edu	37	chr17	27068133	27068133	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttggcagcaatcagcaCggacagttgggcaccaatac	12	8	10	11	1	1	0	1	0	0	0	1	1	1	1	1	3	3	5	1	3	3	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:27068133C>T	ENST00000268766.6	+	13	1804	c.1770C>T	c.(1768-1770)caC>caT	p.H590H	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	590						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GCAATCAGCACGGACAGTTGG	0.582													28	118					0	0	0	0	T	27068133	C	T	27068133	2	4	88	1	0	0	0	0	0	0	0	1	10400	535	19	1		1	NEK8	17	27068133	Silent	SNP	C	TCGA-CN-5370-01A-01D-2012-08	15511900	27068133	54127077	90	17175											
SEZ6	124925	broad.mit.edu	37	chr17	27286791	27286791	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgatgatggagccctgctCcagggtgtagccagggtcgc	7	8	16	10	1	0	2	0	2	0	0	2	4	1	3	3	3	3	2	3	3	1	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:27286791C>G	ENST00000317338.12	-	8	2124	c.1696G>C	c.(1696-1698)Gag>Cag	p.E566Q	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.E566Q|SEZ6_ENST00000360295.9_Missense_Mutation_p.E566Q			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	566	Sushi 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GAGCCCTGCTCCAGGGTGTAG	0.587													5	49					0	0	0	0	G	27286791	C	G	27286791	3	3	88	1	0	0	0	0	1	0	0	0	14229	864	30	2	1341	2	SEZ6	17	27286791	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	218658	27286791	53908419	91	17176											
SGCA	6442	broad.mit.edu	37	chr17	48243421	48243421	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggctgagacactcttctGgactcctctcctcgtgggca	6	11	10	14	1	3	1	0	1	3	1	6	3	4	2	2	3	0	2	2	3	0	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:48243421G>A	ENST00000262018.3	+	1	56	c.20G>A	c.(19-21)tGg>tAg	p.W7*	SGCA_ENST00000513942.1_Intron|SGCA_ENST00000543315.1_Nonsense_Mutation_p.W7*|SGCA_ENST00000451235.2_5'UTR|SGCA_ENST00000344627.6_Nonsense_Mutation_p.W7*	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	7					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						ACACTCTTCTGGACTCCTCTC	0.672													13	233					0	0	0	0	A	48243421	G	A	48243421	4	1	88	1	0	0	0	0	0	1	0	0	14286	1357	47	4	22	4	SGCA	17	48243421	Nonsense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	20956630	48243421	32951789	92	17177											
CACNA1G	8913	broad.mit.edu	37	chr17	48695588	48695588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctcctcccccagagtgtGacgagacacacccctgtgag	8	7	9	17	1	0	4	0	2	0	2	3	5	3	4	6	0	0	0	6	0	0	0			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:48695588G>A	ENST00000352832.5	+	30	5581	c.5209G>A	c.(5209-5211)Gac>Aac	p.D1737N	CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1771N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1764N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1760N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1737N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1771N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1746N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1760N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1737N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1737N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1714N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1778N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1753N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1771N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1726N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1753N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1726N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D1771N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1748N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1760N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1748N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1730N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1719N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1737N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1760N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1771					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCAGAGTGTGACGAGACACA	0.622													22	66					0	0	0	0	A	48695588	G	A	48695588	3	1	88	1	0	0	0	0	1	0	0	0	2569	1290	45	2	5704	2	CACNA1G	17	48695588	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	452167	48695588	32499622	93	17178											
TEX14	56155	broad.mit.edu	37	chr17	56676800	56676800	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctggaggctcttctaTgtcatcttccaaaatcaagc	10	12	7	12	0	5	0	2	0	3	0	7	1	7	1	2	2	2	2	2	2	4	3			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:56676800T>C	ENST00000389934.3	-	14	2023	c.1906A>G	c.(1906-1908)Ata>Gta	p.I636V	TEX14_ENST00000349033.5_Missense_Mutation_p.I636V|TEX14_ENST00000240361.8_Missense_Mutation_p.I642V	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	642						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCTCTTCTATGTCATCTTCC	0.502													18	77					0	0	0	0	C	56676800	T	C	56676800	3	2	88	1	0	0	0	0	1	0	0	0	15872	1464	51	5	2649	5	TEX14	17	56676800	Missense_Mutation	SNP	T	TCGA-CN-5370-01A-01D-2012-08	7981212	56676800	24518410	94	17179											
ABCA6	23460	broad.mit.edu	37	chr17	67094139	67094139	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataagaaaaaggaaccatcCggcaacccagtccagagtcc	17	4	8	12	1	0	2	0	0	0	2	3	3	3	3	5	2	2	1	5	2	6	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:67094139C>T	ENST00000284425.2	-	23	3216	c.3042G>A	c.(3040-3042)ccG>ccA	p.P1014P	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1014					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGGAACCATCCGGCAACCCAG	0.358													6	25					0	0	0	0	T	67094139	C	T	67094139	2	4	88	1	0	0	0	0	0	0	0	1	36	639	23	1		1	ABCA6	17	67094139	Silent	SNP	C	TCGA-CN-5370-01A-01D-2012-08	10417339	67094139	14101071	95	17180											
LLGL2	3993	broad.mit.edu	37	chr17	73568022	73568022	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggcgccggtggtgggcatCctggtgctcgacggacacag	5	6	18	12	5	0	0	0	0	0	0	2	2	1	1	2	6	1	2	2	6	0	0			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:73568022C>A	ENST00000392550.3	+	19	2454	c.2337C>A	c.(2335-2337)atC>atA	p.I779I	LLGL2_ENST00000577200.1_Silent_p.I779I|LLGL2_ENST00000167462.5_Silent_p.I779I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	779					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGTGGGCATCCTGGTGCTCG	0.667													7	31					0.00198382	0.00239771	1	0	A	73568022	C	A	73568022	2	1	88	1	0	0	0	0	0	0	0	1	8889	845	30	2		2	LLGL2	17	73568022	Silent	SNP	C	TCGA-CN-5370-01A-01D-2012-08	6473883	73568022	7627188	96	17181											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74639688	74639688	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccactggacgccttggctCaggtgcctgcatctccacag	7	8	11	15	1	2	0	1	0	1	0	3	2	2	1	4	3	2	2	4	3	0	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:74639688C>G	ENST00000156626.7	-	1	232	c.33G>C	c.(31-33)ctG>ctC	p.L11L	ST6GALNAC1_ENST00000590878.1_5'UTR|ST6GALNAC1_ENST00000589992.1_Silent_p.L11L	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	11					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CGCCTTGGCTCAGGTGCCTGC	0.562													6	28					0	0	0	0	G	74639688	C	G	74639688	2	3	88	1	0	0	0	0	0	0	0	1	15313	813	29	2		2	ST6GALNAC1	17	74639688	Silent	SNP	C	TCGA-CN-5370-01A-01D-2012-08	1071666	74639688	6555522	97	17182											
SOCS3	9021	broad.mit.edu	37	chr17	76354904	76354904	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacactggatgcgcaggttCttggtcccagactgggtctt	6	12	12	11	1	3	1	1	0	2	1	4	2	4	2	1	4	1	2	1	4	0	3			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:76354904C>T	ENST00000330871.2	-	2	688	c.273G>A	c.(271-273)aaG>aaA	p.K91K		NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	91	SH2.				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			TGCGCAGGTTCTTGGTCCCAG	0.657													7	35					0	0	0	0	T	76354904	C	T	76354904	2	4	88	1	0	0	0	0	0	0	0	1	15003	912	32	2		2	SOCS3	17	76354904	Silent	SNP	C	TCGA-CN-5370-01A-01D-2012-08	1715216	76354904	4840306	98	17183											
PTPRS	5802	broad.mit.edu	37	chr19	5210481	5210481	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctgtctcttcactcaccCgggcatctgtgaccttgaac	7	12	8	14	1	5	2	2	2	3	0	6	2	5	2	2	1	1	1	2	1	1	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:5210481C>T	ENST00000372412.4	-	35	5722	c.5490_splice	c.e35+1	p.R1830_splice	PTPRS_ENST00000357368.4_Splice_Site_p.R1829_splice|PTPRS_ENST00000353284.2_Splice_Site_p.R1382_splice|PTPRS_ENST00000592099.1_Splice_Site_p.R1382_splice|PTPRS_ENST00000262963.6_Splice_Site_p.R1809_splice|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Splice_Site_p.R1791_splice|PTPRS_ENST00000587303.1_Splice_Site_p.R1829_splice|PTPRS_ENST00000348075.2_Splice_Site_p.R1791_splice			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1829	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTCACTCACCCGGGCATCTGT	0.557													24	82					0	0	0	0	T	5210481	C	T	5210481	5	4	88	1	0	0	0	0	0	0	1	0	12893	666	23	1	376	1	PTPRS	19	5210481	Splice_Site	SNP	C	TCGA-CN-5370-01A-01D-2012-08		5210481	53918502	99	17184											
PRAM1	84106	broad.mit.edu	37	chr19	8563261	8563261	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgcccgccctcacccaccTatggatgctgcagagggtct	6	7	11	17	2	2	1	1	0	1	1	2	2	2	2	5	2	2	2	5	2	1	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:8563261T>C	ENST00000423345.4	-	2	1951	c.1432_splice	c.e2+1	p.I477_splice	PRAM1_ENST00000255612.3_Splice_Site_p.I477_splice			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	525	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTCACCCACCTATGGATGCTG	0.697													6	5					0	0	0	0	C	8563261	T	C	8563261	5	2	88	1	0	0	0	0	0	0	1	0	12499	1536	53	5	614	5	PRAM1	19	8563261	Splice_Site	SNP	T	TCGA-CN-5370-01A-01D-2012-08	3352780	8563261	50565722	100	17185											
OR7A5	26659	broad.mit.edu	37	chr19	14938846	14938846	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaagtaacacaaatgtCagcaaaggacaggttggaga	16	6	14	5	0	1	1	1	0	0	1	1	4	1	3	0	5	2	3	0	5	4	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:14938846C>A	ENST00000322301.3	-	2	295	c.208G>T	c.(208-210)Gac>Tac	p.D70Y	OR7A5_ENST00000594432.1_Missense_Mutation_p.D70Y|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						ACACAAATGTCAGCAAAGGAC	0.488													39	104					4.32679e-17	5.76906e-17	1	0	A	14938846	C	A	14938846	3	1	88	1	0	0	0	0	1	0	0	0	11287	826	29	2	755	2	OR7A5	19	14938846	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	6375585	14938846	44190137	101	17186											
BRD4	23476	broad.mit.edu	37	chr19	15374344	15374344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcatcacggtactcacGggcctccagtttagactgga	9	9	11	12	2	2	2	2	1	0	1	3	3	3	3	2	3	2	3	2	3	2	3			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:15374344G>A	ENST00000263377.2	-	7	1449	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	BRD4_ENST00000360016.5_Missense_Mutation_p.R410C|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Missense_Mutation_p.R410C	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	410	Bromo 2.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CGGTACTCACGGGCCTCCAGT	0.532			T	C15orf55	lethal midline carcinoma of young people								17	34					0	0	0	0	A	15374344	G	A	15374344	3	1	88	1	0	0	0	0	1	0	0	0	1512	1116	39	1	2931	1	BRD4	19	15374344	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	435498	15374344	43754639	102	17187											
LILRA1	11024	broad.mit.edu	37	chr19	55107880	55107880	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcccactcggggacctaCaggtgctacggctcactcag	8	7	11	15	2	3	0	3	0	0	0	4	1	3	1	2	4	4	2	2	4	2	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:55107880C>G	ENST00000251372.3	+	7	1367	c.1185C>G	c.(1183-1185)taC>taG	p.Y395*	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	395	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CGGGGACCTACAGGTGCTACG	0.582													10	210					0	0	0	0	G	55107880	C	G	55107880	4	3	88	1	0	0	0	0	0	1	0	0	8838	489	17	4	1207	4	LILRA1	19	55107880	Nonsense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	39733536	55107880	4021103	103	17188											
ZNF419	79744	broad.mit.edu	37	chr19	58003591	58003591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taccgagagatagttggtggGtggagctcagggaggtgtga	9	9	19	4	1	1	2	1	1	0	1	1	6	1	4	1	5	2	2	1	5	2	3			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:58003591G>A	ENST00000518999.1	+	4	493	c.313G>A	c.(313-315)Gtg>Atg	p.V105M	ZNF419_ENST00000520540.1_Missense_Mutation_p.V92M|ZNF419_ENST00000221735.7_Intron|ZNF419_ENST00000442920.2_Intron|ZNF419_ENST00000347466.6_Intron|ZNF419_ENST00000424930.2_Intron|ZNF419_ENST00000415379.2_Intron|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000426954.2_Intron|AC003005.4_ENST00000601674.1_Intron			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TAGTTGGTGGGTGGAGCTCAG	0.498													13	85					0	0	0	0	A	58003591	G	A	58003591	3	1	88	1	0	0	0	0	1	0	0	0	17991	1276	44	4		4	ZNF419	19	58003591	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	2895711	58003591	1125392	104	17189											
DEFB121	245934	broad.mit.edu	37	chr20	29992772	29992772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgttaattttggttttaCaggtacatacttgggatcca	9	17	9	6	0	1	0	0	0	1	0	2	1	2	1	1	3	3	3	1	3	4	8			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr20:29992772C>T	ENST00000376314.2	-	2	288	c.175G>A	c.(175-177)Gta>Ata	p.V59I	DEFB121_ENST00000376312.3_5'UTR	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	59					defense response to bacterium	extracellular region				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTTGGTTTTACAGGTACATAC	0.413													21	56					0	0	0	0	T	29992772	C	T	29992772	3	4	88	1	0	0	0	0	1	0	0	0	4444	478	17	4	59	4	DEFB121	20	29992772	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08		29992772	33032748	105	17190											
NCOA6	23054	broad.mit.edu	37	chr20	33369945	33369945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgtaacaaattgggcaCgtttttcaatattgcatcta	12	15	7	7	1	2	0	1	0	1	0	2	0	2	0	0	1	2	4	0	1	5	7			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr20:33369945C>T	ENST00000374796.2	-	4	2784	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	NCOA6_ENST00000359003.2_Missense_Mutation_p.V72M			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	72	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AAATTGGGCACGTTTTTCAAT	0.313													7	25					0	0	0	0	T	33369945	C	T	33369945	3	4	88	1	0	0	0	0	1	0	0	0	10303	536	19	1	6029	1	NCOA6	20	33369945	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08	3377173	33369945	29655575	106	17191											
MYH7B	57644	broad.mit.edu	37	chr20	33587469	33587469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctggaaggcgagaagagtGagatccaggctgcactggag	11	5	17	8	2	0	3	0	1	0	3	1	7	1	5	1	4	1	3	1	4	2	0			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr20:33587469G>A	ENST00000262873.7	+	35	4854	c.4762G>A	c.(4762-4764)Gag>Aag	p.E1588K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1546						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGAGAAGAGTGAGATCCAGGC	0.622													9	41					0	0	0	0	A	33587469	G	A	33587469	3	1	88	1	0	0	0	0	1	0	0	0	10110	1291	45	2	4900	2	MYH7B	20	33587469	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	217524	33587469	29438051	107	17192											
SEMG1	6406	broad.mit.edu	37	chr20	43836893	43836893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagtatttatagccaaactGaagagaaagcacagggcaag	17	6	11	7	0	0	2	0	1	0	1	0	3	0	2	1	1	3	4	1	1	7	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr20:43836893G>A	ENST00000372781.3	+	2	1012	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TAGCCAAACTGAAGAGAAAGC	0.378													7	32					0	0	0	0	A	43836893	G	A	43836893	3	1	88	1	0	0	0	0	1	0	0	0	14131	1291	45	2	961	2	SEMG1	20	43836893	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	10249424	43836893	19188627	108	17193											
TTC3	7267	broad.mit.edu	37	chr21	38467718	38467718	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatttgatatagctattatCtattacaccagagccattga	14	14	6	7	0	1	4	0	2	1	2	1	4	1	4	2	0	3	1	2	0	6	8			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr21:38467718C>G	ENST00000399017.2	+	9	3503	c.756C>G	c.(754-756)atC>atG	p.I252M	TTC3_ENST00000354749.2_Missense_Mutation_p.I252M|TTC3_ENST00000399010.1_Missense_Mutation_p.I252M|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.I252M	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	252					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TAGCTATTATCTATTACACCA	0.333													6	73					0	0	0	0	G	38467718	C	G	38467718	3	3	88	1	0	0	0	0	1	0	0	0	16793	903	32	2	786	2	TTC3	21	38467718	Missense_Mutation	SNP	C	TCGA-CN-5370-01A-01D-2012-08		38467718	9662177	109	17194											
TRPM2	7226	broad.mit.edu	37	chr21	45859043	45859043	+	Missense_Mutation	SNP	G	G	T																															ttgaaaacttgctgaagtgcGgcatggaggtattcctggcc																								rs142254503	byFrequency	TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr21:45859043G>T	ENST00000397928.1	+	30	4706	c.4261G>T	c.(4261-4263)Ggc>Tgc	p.G1421C	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.G1367C|TRPM2_ENST00000300482.5_Missense_Mutation_p.G1421C|TRPM2_ENST00000397932.2_Missense_Mutation_p.G1471C	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1421	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTGAAGTGCGGCATGGAGGT	0.602													7	31					0.000157383	0.000192996	1	0	T	45859043	G	T	45859043	3	4	88	1	0	0	0	0	1	0	0	0	16681	1116	39	3	4379	3	TRPM2	21	45859043	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	7391325	45859043	2270852	110	17195	144	2									
TRPM2	7226	broad.mit.edu	37	chr21	45859044	45859044	+	Missense_Mutation	SNP	G	G	T																															tgaaaacttgctgaagtgcgGcatggaggtattcctggcct																										TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr21:45859044G>T	ENST00000397928.1	+	30	4707	c.4262G>T	c.(4261-4263)gGc>gTc	p.G1421V	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.G1367V|TRPM2_ENST00000300482.5_Missense_Mutation_p.G1421V|TRPM2_ENST00000397932.2_Missense_Mutation_p.G1471V	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1421	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTGAAGTGCGGCATGGAGGTA	0.602													7	31					0.000157383	0.000192996	1	0	T	45859044	G	T	45859044	3	4	88	1	0	0	0	0	1	0	0	0	16681	1203	42	4	4380	4	TRPM2	21	45859044	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	1	45859044	2270851	111	17196	144	2									
CCDC116	164592	broad.mit.edu	37	chr22	21988525	21988525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggagaaggcgactgagcGcatggctgccatgaagacgg	10	5	18	8	3	0	4	0	2	0	2	0	6	0	4	1	5	2	2	1	5	2	0			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr22:21988525G>T	ENST00000292779.3	+	3	448	c.287G>T	c.(286-288)cGc>cTc	p.R96L		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	96			R -> C (in dbSNP:rs861854).					p.R96L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GCGACTGAGCGCATGGCTGCC	0.632													26	66					4.59853e-10	6.03557e-10	1	0	T	21988525	G	T	21988525	3	4	88	1	0	0	0	0	1	0	0	0	2778	1087	38	3	293	3	CCDC116	22	21988525	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08		21988525	29316041	112	17197											
AP1B1	162	broad.mit.edu	37	chr22	29737728	29737728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagatgtagccacggtcccGcaggtctgggttatctgagt	7	11	14	9	2	2	2	0	1	2	1	3	2	3	2	2	3	1	4	2	3	3	3			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr22:29737728G>A	ENST00000357586.2	-	13	1744	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	AP1B1_ENST00000432560.2_Missense_Mutation_p.R520W|AP1B1_ENST00000356015.2_Missense_Mutation_p.R520W|AP1B1_ENST00000415447.1_Missense_Mutation_p.R520W|AP1B1_ENST00000317368.7_Missense_Mutation_p.R520W|AP1B1_ENST00000405198.1_Missense_Mutation_p.R520W|AP1B1_ENST00000402502.1_Missense_Mutation_p.R520W	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	520					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCACGGTCCCGCAGGTCTGGG	0.597													20	36					0	0	0	0	A	29737728	G	A	29737728	3	1	88	1	0	0	0	0	1	0	0	0	732	1086	38	1	1335	1	AP1B1	22	29737728	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	7749203	29737728	21566838	113	17198											
FAM47B	170062	broad.mit.edu	37	chrX	34961479	34961479	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaaccgaggtacccacCgagtctggtaaatatccctg	13	7	9	12	2	1	1	0	0	1	1	2	3	2	1	4	2	2	2	4	2	6	3	rs149160457		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:34961479C>T	ENST00000329357.5	+	1	567	c.531C>T	c.(529-531)acC>acT	p.T177T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	177										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGGTACCCACCGAGTCTGGTA	0.612													11	22					0	0	0	0	T	34961479	C	T	34961479	2	4	88	1	0	0	0	0	0	0	0	1	5617	639	23	1		1	FAM47B	23	34961479	Silent	SNP	C	TCGA-CN-5370-01A-01D-2012-08		34961479	120309081	114	17199											
MAOA	4128	broad.mit.edu	37	chrX	43601196	43601196	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccccactgaactgcaGccagtgcattatgaagagaa	12	10	8	11	0	1	3	0	2	1	1	2	4	2	3	3	0	4	2	3	0	4	3			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:43601196G>C	ENST00000338702.3	+	12	1287		c.e12-1		MAOA_ENST00000542639.1_Splice_Site	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A						behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	CTGAACTGCAGCCAGTGCATT	0.423													5	17					0	0	0	0	C	43601196	G	C	43601196	5	2	88	1	0	0	0	0	0	0	1	0	9294	985	34	4	1210	4	MAOA	23	43601196	Splice_Site	SNP	G	TCGA-CN-5370-01A-01D-2012-08	8639717	43601196	111669364	115	17200											
PRAF2	11230	broad.mit.edu	37	chrX	48931479	48931479	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccctcacccggcgagagcGaggccgatgccgaagcagag	9	3	14	15	5	1	2	1	0	0	2	2	6	2	2	4	2	3	1	4	2	1	0			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:48931479G>A	ENST00000376390.4	-	1	251	c.168C>T	c.(166-168)ctC>ctT	p.L56L	WDR45_ENST00000376358.3_Intron|WDR45_ENST00000553851.1_Intron|PRAF2_ENST00000491199.1_5'UTR|PRAF2_ENST00000376386.3_Silent_p.L56L	NM_007213.1	NP_009144.1			PRA1 domain family, member 2									p.L56L(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						CGGCGAGAGCGAGGCCGATGC	0.647													19	24					0	0	0	0	A	48931479	G	A	48931479	2	1	88	1	0	0	0	0	0	0	0	1	12498	1045	37	1		1	PRAF2	23	48931479	Silent	SNP	G	TCGA-CN-5370-01A-01D-2012-08	5330283	48931479	106339081	116	17201											
GLRA4	441509	broad.mit.edu	37	chrX	102979135	102979135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagatagagtccagcatgGagggatcgaggtccagagag	12	6	15	8	1	0	3	0	0	0	3	4	7	3	5	3	3	1	1	3	3	1	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:102979135G>T	ENST00000372617.4	-	4	785	c.365C>A	c.(364-366)tCc>tAc	p.S122Y		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	122						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTCCAGCATGGAGGGATCGAG	0.527													49	53					1.02067e-35	1.39408e-35	1	0	T	102979135	G	T	102979135	3	4	88	1	0	0	0	0	1	0	0	0	6508	1174	41	2	1007	2	GLRA4	23	102979135	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	54047656	102979135	52291425	117	17202											
IGSF1	3547	broad.mit.edu	37	chrX	130409171	130409171	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggacaaatgttgagtctgGcagttccccttgacactgaa	11	10	10	10	0	1	3	0	3	1	0	2	4	2	4	2	2	0	3	2	2	2	3			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:130409171G>C	ENST00000370904.1	-	23	4157	c.3247C>G	c.(3247-3249)Cca>Gca	p.P1083A	IGSF1_ENST00000361420.3_Missense_Mutation_p.P1092A|IGSF1_ENST00000370903.3_Missense_Mutation_p.P1097A|IGSF1_ENST00000370910.1_Missense_Mutation_p.P1083A			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1092	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTTGAGTCTGGCAGTTCCCCT	0.547													7	132					0	0	0	0	C	130409171	G	C	130409171	3	2	88	1	0	0	0	0	1	0	0	0	7649	1203	42	4	752	4	IGSF1	23	130409171	Missense_Mutation	SNP	G	TCGA-CN-5370-01A-01D-2012-08	27430036	130409171	24861389	118	17203											
ARHGAP4	393	broad.mit.edu	37	chrX	153175297	153175297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtgcagccgcagtacgTccccccgccggaagctcagc	6	6	11	18	5	2	0	1	0	1	0	4	1	3	1	5	1	5	4	5	1	2	1			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:153175297T>C	ENST00000370028.3	-	20	2489	c.2432A>G	c.(2431-2433)gAc>gGc	p.D811G	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.D748G|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.D750G|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.D771G|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.D593G	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	771					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCAGTACGTCCCCCCGCCG	0.701													2	3					0	0	0	0	C	153175297	T	C	153175297	3	2	88	1	0	0	0	0	1	0	0	0	887	1667	58	5	544	5	ARHGAP4	23	153175297	Missense_Mutation	SNP	T	TCGA-CN-5370-01A-01D-2012-08	22766126	153175297	2095263	119	17204											
IRAK1	3654	broad.mit.edu	37	chrX	153284101	153284101	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcatcaccgcccggtaCacgcacccaaagccaccctc	9	6	5	21	3	2	0	2	0	0	0	4	0	3	0	6	1	2	2	6	1	2	2			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:153284101C>A	ENST00000369980.3	-	5	845	c.678G>T	c.(676-678)gtG>gtT	p.V226V	IRAK1_ENST00000429936.2_Silent_p.V252V|IRAK1_ENST00000393687.2_Silent_p.V226V|IRAK1_ENST00000393682.1_Silent_p.V252V|IRAK1_ENST00000369974.2_Silent_p.V226V	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	226	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCCCGGTACACGCACCCAA	0.612													51	70					1.66251e-12	2.19922e-12	1	0	A	153284101	C	A	153284101	2	1	88	1	0	0	0	0	0	0	0	1	7874	465	17	4		4	IRAK1	23	153284101	Silent	SNP	C	TCGA-CN-5370-01A-01D-2012-08	108804	153284101	1986459	120	17205											
EMD	2010	broad.mit.edu	37	chrX	153608360	153608360	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcccaagaaagaggacgcTttactctaccagagcaaggg	13	7	10	11	1	1	3	0	0	1	3	2	4	2	4	2	2	3	2	2	2	5	4			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:153608360T>A	ENST00000369842.4	+	3	534	c.246T>A	c.(244-246)gcT>gcA	p.A82A	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Silent_p.A47A	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	82	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGAGGACGCTTTACTCTACC	0.557													63	78					0	0	0	0	A	153608360	T	A	153608360	2	1	88	1	0	0	0	0	0	0	0	1	5125	1596	56	5		5	EMD	23	153608360	Silent	SNP	T	TCGA-CN-5370-01A-01D-2012-08	324259	153608360	1662200	121	17206											
PEX14	5195	broad.mit.edu	37	chr1	10659313	10659313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggctgacagatgaagagaTtgatatggccttccagcagt	12	9	13	7	0	0	5	0	3	0	2	1	6	1	5	2	2	1	2	2	2	2	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:10659313T>C	ENST00000356607.4	+	4	268	c.188T>C	c.(187-189)aTt>aCt	p.I63T	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	63					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GATGAAGAGATTGATATGGCC	0.542													3	125					0	0	0	0	C	10659313	T	C	10659313	3	2	89	1	0	0	0	0	1	0	0	0	11814	1493	52	5	202	5	PEX14	1	10659313	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08		10659313	238591308	1	17207											
RSC1A1	6248	broad.mit.edu	37	chr1	15987995	15987995	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagagaaaatgtctgtccTgatgcttcgaggccattact	11	11	9	10	1	1	2	0	1	1	1	3	4	2	2	3	1	2	1	3	1	3	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:15987995T>C	ENST00000345034.1	+	1	1632	c.1632T>C	c.(1630-1632)ccT>ccC	p.P544P	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	544					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTCTGTCCTGATGCTTCGA	0.423													5	262					0	0	0	0	C	15987995	T	C	15987995	2	2	89	1	0	0	0	0	0	0	0	1	13783	1567	55	5		5	RSC1A1	1	15987995	Silent	SNP	T	TCGA-CN-5373-01A-01D-1434-08	5328682	15987995	233262626	2	17208											
ZBTB40	9923	broad.mit.edu	37	chr1	22837770	22837770	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcccggccattgaaatatgCcacctcctgtgcagtgtcca	8	10	9	14	1	0	1	0	1	0	0	3	1	3	1	6	1	2	1	6	1	2	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:22837770C>T	ENST00000404138.1	+	11	2443	c.1932C>T	c.(1930-1932)tgC>tgT	p.C644C	ZBTB40_ENST00000375647.4_Silent_p.C644C|ZBTB40_ENST00000374651.4_Silent_p.C532C	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	644					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TTGAAATATGCCACCTCCTGT	0.542													4	130					0	0	0	0	T	22837770	C	T	22837770	2	4	89	1	0	0	0	0	0	0	0	1	17637	747	26	4		4	ZBTB40	1	22837770	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	6849775	22837770	226412851	3	17209											
CD52	1043	broad.mit.edu	37	chr1	26644515	26644515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatcctaccaaaatgaagCgcttcctcttcctcctactc	11	11	4	15	1	1	2	0	1	1	1	6	2	5	2	5	0	3	1	5	0	6	4	rs141117966	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:26644515C>T	ENST00000374213.2	+	1	68	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	CD52_ENST00000492808.1_3'UTR|UBXN11_ENST00000374217.2_Intron|UBXN11_ENST00000374222.1_Intron	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule	3					elevation of cytosolic calcium ion concentration|respiratory burst	anchored to membrane|integral to plasma membrane|membrane fraction				large_intestine(1)	1		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	CAAAATGAAGCGCTTCCTCTT	0.512													41	109					0	0	0	0	T	26644515	C	T	26644515	3	4	89	1	0	0	0	0	1	0	0	0	3051	768	27	1	9	1	CD52	1	26644515	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	3806745	26644515	222606106	4	17210											
RPS6KA1	6195	broad.mit.edu	37	chr1	26888041	26888041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggtgacagagctgatgCggggtggggagctgctggac	7	7	19	8	1	0	3	0	2	0	1	0	5	0	5	1	6	4	3	1	6	0	0			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:26888041C>T	ENST00000374168.2	+	17	1631	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R477W|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R401W|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R502W|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R482W|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R401W	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	493	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGAGCTGATGCGGGGTGGGGA	0.572													8	211					0	0	0	0	T	26888041	C	T	26888041	3	4	89	1	0	0	0	0	1	0	0	0	13735	759	27	1	1682	1	RPS6KA1	1	26888041	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	243526	26888041	222362580	5	17211											
AK2	204	broad.mit.edu	37	chr1	33480136	33480136	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacatacgtcatctttcatgGgctcttttggagggttgaac	8	15	10	8	1	4	1	2	1	2	0	4	2	4	2	0	3	3	2	0	3	3	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:33480136G>C	ENST00000373449.2	-	5	526	c.485C>G	c.(484-486)cCc>cGc	p.P162R	AK2_ENST00000467905.1_Missense_Mutation_p.P162R|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000354858.6_Missense_Mutation_p.P162R|AK2_ENST00000480134.1_Silent_p.A130A|AK2_ENST00000548033.1_Missense_Mutation_p.P120R	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	162					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATCTTTCATGGGCTCTTTTGG	0.413													70	398					0	0	0	0	C	33480136	G	C	33480136	3	2	89	1	0	0	0	0	1	0	0	0	440	1232	43	4	251	4	AK2	1	33480136	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	6592095	33480136	215770485	6	17212											
TRIM62	55223	broad.mit.edu	37	chr1	33625294	33625294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtggcacttaccgctcGgacagtgaggccaccccagc	7	5	14	15	3	0	1	0	1	0	0	1	2	0	2	4	4	2	2	4	4	1	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:33625294G>A	ENST00000291416.5	-	3	989	c.756C>T	c.(754-756)tcC>tcT	p.S252S	TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Silent_p.S131S	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	252						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CTTACCGCTCGGACAGTGAGG	0.682													14	31					0	0	0	0	A	33625294	G	A	33625294	2	1	89	1	0	0	0	0	0	0	0	1	16632	1103	39	1		1	TRIM62	1	33625294	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	145158	33625294	215625327	7	17213											
IPO13	9670	broad.mit.edu	37	chr1	44422613	44422613	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgaggaatatggattctgGtcctcagacgagaaggagca	13	8	14	6	1	2	3	1	1	1	2	3	8	3	6	1	4	1	1	1	4	3	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:44422613G>A	ENST00000372343.3	+	5	1898	c.1236G>A	c.(1234-1236)tgG>tgA	p.W412*	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	412					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATGGATTCTGGTCCTCAGACG	0.507													34	90					0	0	0	0	A	44422613	G	A	44422613	4	1	89	1	0	0	0	0	0	1	0	0	7847	1270	44	4	1254	4	IPO13	1	44422613	Nonsense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	10797319	44422613	204828008	8	17214											
ZCCHC11	23318	broad.mit.edu	37	chr1	52902547	52902547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctaaagtctcgagtatCgtggaggtctcgggggtcaa	8	11	14	8	3	4	0	1	0	3	0	8	2	4	1	0	4	0	1	0	4	4	2	rs149301397	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:52902547C>A	ENST00000371544.3	-	26	4301	c.4039G>T	c.(4039-4041)Gat>Tat	p.D1347Y	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D1348Y	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1347					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TCTCGAGTATCGTGGAGGTCT	0.473													5	271					0.184627	0.188804	1	0	A	52902547	C	A	52902547	3	1	89	1	0	0	0	0	1	0	0	0	17675	884	31	3	915	3	ZCCHC11	1	52902547	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	8479934	52902547	196348074	9	17215											
C1orf177	163747	broad.mit.edu	37	chr1	55277720	55277720	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacctctgctgtgctctaggGgagtggtctgggacccggca	5	9	15	12	1	3	0	0	0	3	0	3	2	3	2	2	5	2	3	2	5	1	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:55277720G>A	ENST00000358193.3	+	6	674	c.618_splice	c.e6-1	p.G207_splice	C1orf177_ENST00000371273.3_Splice_Site_p.G207_splice	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	207										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GTGCTCTAGGGGAGTGGTCTG	0.627													53	164					0	0	0	0	A	55277720	G	A	55277720	5	1	89	1	0	0	0	0	0	0	1	0	2036	1246	43	4	642	4	C1orf177	1	55277720	Splice_Site	SNP	G	TCGA-CN-5373-01A-01D-1434-08	2375173	55277720	193972901	10	17216											
TBX15	6913	broad.mit.edu	37	chr1	119456776	119456776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgaatcctttagcaaaaggGtttcggtcaatttttaatct	11	16	7	7	1	2	1	1	1	1	0	4	1	3	1	1	2	1	2	1	2	6	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:119456776G>C	ENST00000369429.3	-	6	897	c.888C>G	c.(886-888)aaC>aaG	p.N296K	TBX15_ENST00000207157.3_Missense_Mutation_p.N190K			Q96SF7	TBX15_HUMAN	T-box 15	296						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TAGCAAAAGGGTTTCGGTCAA	0.353													13	88					0	0	0	0	C	119456776	G	C	119456776	3	2	89	1	0	0	0	0	1	0	0	0	15746	1252	44	4	932	4	TBX15	1	119456776	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	64179056	119456776	129793845	11	17217											
ITGA10	8515	broad.mit.edu	37	chr1	145535761	145535761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccattgtccatctgacccCatcactggaggtgaccccac	8	8	8	17	0	2	2	1	2	1	0	3	3	3	3	6	2	0	0	6	2	0	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:145535761C>T	ENST00000369304.3	+	16	2124	c.1949C>T	c.(1948-1950)cCa>cTa	p.P650L	ITGA10_ENST00000539363.1_Missense_Mutation_p.P507L|ITGA10_ENST00000538811.1_Missense_Mutation_p.P519L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	650					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATCTGACCCCATCACTGGAG	0.562													7	301					0	0	0	0	T	145535761	C	T	145535761	3	4	89	1	0	0	0	0	1	0	0	0	7926	594	21	4	2011	4	ITGA10	1	145535761	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	26078985	145535761	103714860	12	17218											
FLG	2312	broad.mit.edu	37	chr1	152278060	152278060	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgaccgtattgggatgctGagtgcctggagctgtcttgt	5	13	14	9	1	1	2	0	2	1	0	1	4	1	4	3	2	3	3	3	2	1	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:152278060G>C	ENST00000368799.1	-	3	9337	c.9302C>G	c.(9301-9303)tCa>tGa	p.S3101*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3101	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGGATGCTGAGTGCCTGGA	0.582									Ichthyosis				110	485					0	0	0	0	C	152278060	G	C	152278060	4	2	89	1	0	0	0	0	0	1	0	0	5967	1294	45	2	2887	2	FLG	1	152278060	Nonsense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	6742299	152278060	96972561	13	17219											
PAPPA2	60676	broad.mit.edu	37	chr1	176525520	176525520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgggtgggcactctgttCtgccaactctgagctgggct	4	11	15	11	0	3	1	0	1	3	0	3	1	3	1	1	4	3	5	1	4	1	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:176525520C>T	ENST00000367662.3	+	2	1226	c.62C>T	c.(61-63)tCt>tTt	p.S21F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S21F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	21					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCACTCTGTTCTGCCAACTCT	0.512													49	170					0	0	0	0	T	176525520	C	T	176525520	3	4	89	1	0	0	0	0	1	0	0	0	11504	913	32	2	64	2	PAPPA2	1	176525520	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	24247460	176525520	72725101	14	17220											
ASTN1	460	broad.mit.edu	37	chr1	176915237	176915237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcgtccatccacaccaaGcttgtagtcctcgatgcacc	10	8	8	15	2	0	1	0	0	0	1	4	2	3	1	5	0	3	3	5	0	2	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:176915237G>A	ENST00000367654.2	-	13	2111	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.L692F|ASTN1_ENST00000367657.3_Missense_Mutation_p.L692F|ASTN1_ENST00000361833.2_Missense_Mutation_p.L692F			O14525	ASTN1_HUMAN	astrotactin 1	700	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						TCCACACCAAGCTTGTAGTCC	0.517													6	116					0	0	0	0	A	176915237	G	A	176915237	3	1	89	1	0	0	0	0	1	0	0	0	1068	971	34	4	1858	4	ASTN1	1	176915237	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	389717	176915237	72335384	15	17221											
EDEM3	80267	broad.mit.edu	37	chr1	184688698	184688698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatacctcattatggcatcaTagtgctaaaagatcacaaca	16	11	5	9	0	3	1	3	0	0	1	3	1	3	1	1	1	3	2	1	1	7	5			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:184688698T>C	ENST00000318130.8	-	10	1222	c.956A>G	c.(955-957)tAt>tGt	p.Y319C	EDEM3_ENST00000367512.3_Missense_Mutation_p.Y276C	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	319				HY -> VS (in Ref. 4; AAI05587).	post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TATGGCATCATAGTGCTAAAA	0.363													17	78					0	0	0	0	C	184688698	T	C	184688698	3	2	89	1	0	0	0	0	1	0	0	0	4949	1406	49	5	1886	5	EDEM3	1	184688698	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08	7773461	184688698	64561923	16	17222											
PTPRC	5788	broad.mit.edu	37	chr1	198703458	198703458	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttgtttacctcctaggTcccagggatgaaactgttga	9	15	9	8	0	0	2	0	2	0	0	2	3	2	3	3	2	2	2	3	2	4	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:198703458T>C	ENST00000367376.2	+	22	2346	c.2173_splice	c.e22-1	p.G725_splice	PTPRC_ENST00000442510.2_Splice_Site_p.G727_splice|PTPRC_ENST00000348564.6_Splice_Site_p.G566_splice|PTPRC_ENST00000594404.1_Splice_Site_p.G564_splice|PTPRC_ENST00000352140.3_Splice_Site_p.G677_splice	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	725	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACCTCCTAGGTCCCAGGGATG	0.338													15	725					0	0	0	0	C	198703458	T	C	198703458	5	2	89	1	0	0	0	0	0	0	1	0	12879	1681	58	5	2268	5	PTPRC	1	198703458	Splice_Site	SNP	T	TCGA-CN-5373-01A-01D-1434-08	14014760	198703458	50547163	17	17223											
SLC26A9	115019	broad.mit.edu	37	chr1	205904837	205904837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagttacctgaaggcattgcGaagtttctctcccactgggt	8	12	10	11	1	1	1	0	1	1	0	3	2	2	1	2	2	2	3	2	2	3	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:205904837G>A	ENST00000367135.3	-	2	225	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	SLC26A9_ENST00000367134.2_Missense_Mutation_p.R38C|SLC26A9_ENST00000340781.4_Missense_Mutation_p.R38C|RP4-681L3.2_ENST00000421166.1_RNA	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	38						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.R38C(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AAGGCATTGCGAAGTTTCTCT	0.552													50	152					0	0	0	0	A	205904837	G	A	205904837	3	1	89	1	0	0	0	0	1	0	0	0	14612	1058	37	1	2639	1	SLC26A9	1	205904837	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	7201379	205904837	43345784	18	17224											
LYST	1130	broad.mit.edu	37	chr1	235915445	235915445	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgctgtatatcacaagcaAgcaatttatattcactcatg	13	14	6	8	0	3	0	3	0	0	0	3	0	3	0	0	0	3	5	0	0	7	7			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:235915445A>G	ENST00000389794.3	-	27	7661	c.7487T>C	c.(7486-7488)cTt>cCt	p.L2496P	LYST_ENST00000389793.2_Missense_Mutation_p.L2496P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2496					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATCACAAGCAAGCAATTTATA	0.313													24	69					0	0	0	0	G	235915445	A	G	235915445	3	3	89	1	0	0	0	0	1	0	0	0	9193	72	3	5	4026	5	LYST	1	235915445	Missense_Mutation	SNP	A	TCGA-CN-5373-01A-01D-1434-08	30010608	235915445	13335176	19	17225											
EML4	27436	broad.mit.edu	37	chr2	42557335	42557335	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaccagcaagacccttcGccctcgtcctaacaccctgg	9	6	9	17	2	0	1	0	0	0	1	3	3	1	2	5	2	2	1	5	2	2	2	rs147316565		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:42557335G>A	ENST00000318522.5	+	23	3196	c.2934G>A	c.(2932-2934)tcG>tcA	p.S978S	EML4_ENST00000402711.2_Silent_p.S920S|EML4_ENST00000401738.3_Silent_p.S989S|EML4_ENST00000453191.2_Silent_p.S242S	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	978			S -> L (in dbSNP:rs28364731).		microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AAGACCCTTCGCCCTCGTCCT	0.517			T	ALK	NSCLC								18	45					0	0	0	0	A	42557335	G	A	42557335	2	1	89	1	0	0	0	0	0	0	0	1	5137	1074	38	1		1	EML4	2	42557335	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08		42557335	200642038	20	17226											
LOXL3	84695	broad.mit.edu	37	chr2	74777400	74777400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgcgtacagtcactgttcCcccagccccgggaggcacat	7	7	11	16	3	1	0	1	0	0	0	2	1	2	1	4	2	3	3	4	2	1	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:74777400C>T	ENST00000264094.3	-	3	460	c.389G>A	c.(388-390)gGg>gAg	p.G130E	DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.G130E|LOXL3_ENST00000409986.1_Missense_Mutation_p.G130E|LOXL3_ENST00000393937.2_Missense_Mutation_p.G130E|LOXL3_ENST00000409249.1_Missense_Mutation_p.G130E|LOXL3_ENST00000484369.1_5'UTR	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	130	SRCR 1.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GTCACTGTTCCCCCAGCCCCG	0.587													8	148					0	0	0	0	T	74777400	C	T	74777400	3	4	89	1	0	0	0	0	1	0	0	0	8965	623	22	4	1920	4	LOXL3	2	74777400	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	32220065	74777400	168421973	21	17227											
SLC9A2	6549	broad.mit.edu	37	chr2	103324903	103324903	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctggtctggagggcatcGgaacctggaagccggaaagc	9	5	17	10	3	1	0	0	0	1	0	2	4	1	4	2	7	3	2	2	7	3	0			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:103324903G>A	ENST00000233969.2	+	12	2536	c.2394G>A	c.(2392-2394)tcG>tcA	p.S798S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	798						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GGAGGGCATCGGAACCTGGAA	0.567													42	97					0	0	0	0	A	103324903	G	A	103324903	2	1	89	1	0	0	0	0	0	0	0	1	14800	1103	39	1		1	SLC9A2	2	103324903	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	28547503	103324903	139874470	22	17228											
LRP1B	53353	broad.mit.edu	37	chr2	142238095	142238095	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacttgatttctacctcCtcgggacctgaaaagatgta	10	11	10	10	1	1	3	0	2	1	1	3	4	2	4	3	2	1	2	3	2	4	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:142238095C>T	ENST00000389484.3	-	3	1184	c.213G>A	c.(211-213)gaG>gaA	p.E71E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	71					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTCTACCTCCTCGGGACCTG	0.388										TSP Lung(27;0.18)			24	89					0	0	0	0	T	142238095	C	T	142238095	2	4	89	1	0	0	0	0	0	0	0	1	9019	680	24	4		4	LRP1B	2	142238095	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	38913192	142238095	100961278	23	17229											
TTN	7273	broad.mit.edu	37	chr2	179594257	179594257	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcactatattttactaccTccacaggcttcagctctctg	8	14	5	14	1	3	0	2	0	1	0	5	0	4	0	2	1	3	2	2	1	4	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:179594257T>A	ENST00000589042.1	-	64	18850	c.18626A>T	c.(18625-18627)gAg>gTg	p.E6209V	TTN_ENST00000342992.6_Missense_Mutation_p.E4965V|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5892V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5892	Ig-like 43.						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)			TTTTACTACCTCCACAGGCTT	0.468													34	120					0	0	0	0	A	179594257	T	A	179594257	3	1	89	1	0	0	0	0	1	0	0	0	16831	1551	54	5	86099	5	TTN	2	179594257	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08	37356162	179594257	63605116	24	17230											
TTN	7273	broad.mit.edu	37	chr2	179606186	179606186	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttccagagattttgccActgctgattctgtttcagtg	6	17	9	9	0	2	2	1	1	1	1	3	3	3	2	2	0	2	3	2	0	0	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:179606186A>T	ENST00000589042.1	-	48	11998	c.11774T>A	c.(11773-11775)gTg>gAg	p.V3925E	TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.V3687E|TTN_ENST00000460472.2_Missense_Mutation_p.V3562E|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V3608E|TTN_ENST00000342175.6_Missense_Mutation_p.V3754E|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3608							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)			AGATTTTGCCACTGCTGATTC	0.433													82	230					0	0	0	0	T	179606186	A	T	179606186	3	4	89	1	0	0	0	0	1	0	0	0	16831	159	6	5	93015	5	TTN	2	179606186	Missense_Mutation	SNP	A	TCGA-CN-5373-01A-01D-1434-08	11929	179606186	63593187	25	17231											
TTN	7273	broad.mit.edu	37	chr2	179612040	179612040	+	Frame_Shift_Del	DEL	G	G	-																															gcaacttcccctaaaggtgtGgaatatctttcaactgtctc																										TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:179612040delG	ENST00000360870.5	-	46	15309	c.15087delC	c.(15085-15087)tcfs	p.S5029fs	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1133	Ig-like 30.						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)			CTAAAGGTGTGGAATATCTTT	0.408													45	123	---	---	---	---					-	179612040	G	-	179612040	7	5	89	1	0	1	0	1	0	0	0	0	16831	1335	47	0	95210	0	TTN	2	179612040	Frame_Shift_Del	DEL	G	TCGA-CN-5373-01A-01D-1434-08	5854	179612040	63587333	26	17232											
MDH1B	130752	broad.mit.edu	37	chr2	207611051	207611051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggtcattatttgttcaCttatttcaacatctttgaga	9	19	6	7	1	4	1	3	1	1	1	5	2	4	1	0	1	1	1	0	1	3	7			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:207611051C>T	ENST00000374412.3	-	8	1591	c.1316G>A	c.(1315-1317)aGt>aAt	p.S439N	MDH1B_ENST00000454776.2_Missense_Mutation_p.S439N|MDH1B_ENST00000392214.2_Missense_Mutation_p.S226N|MDH1B_ENST00000449792.1_Missense_Mutation_p.S341N	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	439					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TATTTGTTCACTTATTTCAAC	0.393													32	74					0	0	0	0	T	207611051	C	T	207611051	3	4	89	1	0	0	0	0	1	0	0	0	9478	565	20	4	260	4	MDH1B	2	207611051	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	27999011	207611051	35588322	27	17233											
PAX3	5077	broad.mit.edu	37	chr2	223163270	223163270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccagcgggaacccgctaCgcgggtagttctgccccggg	5	7	14	15	5	1	0	0	0	1	0	2	1	2	1	4	3	4	3	4	3	3	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:223163270C>A	ENST00000350526.4	-	1	201	c.65G>T	c.(64-66)cGt>cTt	p.R22L	PAX3_ENST00000409551.3_Missense_Mutation_p.R22L|PAX3_ENST00000392069.2_Missense_Mutation_p.R22L|PAX3_ENST00000344493.4_Missense_Mutation_p.R22L|PAX3_ENST00000392070.2_Missense_Mutation_p.R22L|PAX3_ENST00000258387.5_Missense_Mutation_p.R22L|CCDC140_ENST00000295226.1_Intron|PAX3_ENST00000409828.3_Missense_Mutation_p.R22L|PAX3_ENST00000336840.6_Missense_Mutation_p.R22L	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	22					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAACCCGCTACGCGGGTAGTT	0.701			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						6	18					0.00116845	0.00121691	1	0	A	223163270	C	A	223163270	3	1	89	1	0	0	0	0	1	0	0	0	11551	536	19	3	1621	3	PAX3	2	223163270	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	15552219	223163270	20036103	28	17234											
DOCK10	55619	broad.mit.edu	37	chr2	225670158	225670158	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgtcttctcactgctcttCtcattggtacttggattgga	5	17	8	11	1	4	0	2	0	4	0	7	2	5	2	1	3	2	2	1	3	1	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:225670158C>T	ENST00000409592.3	-	35	3998	c.3885G>A	c.(3883-3885)gaG>gaA	p.E1295E	DOCK10_ENST00000258390.7_Silent_p.E1301E			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1301							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CACTGCTCTTCTCATTGGTAC	0.423													16	69					0	0	0	0	T	225670158	C	T	225670158	2	4	89	1	0	0	0	0	0	0	0	1	4721	912	32	2		2	DOCK10	2	225670158	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	2506888	225670158	17529215	29	17235											
CNTN6	27255	broad.mit.edu	37	chr3	1427421	1427421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttgcttccgtaagagctTacaacactgctgggacaggg	10	10	11	10	1	0	1	0	0	0	1	1	2	1	2	1	2	5	4	1	2	3	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:1427421T>C	ENST00000446702.2	+	20	3271	c.2644T>C	c.(2644-2646)Tac>Cac	p.Y882H	CNTN6_ENST00000539053.1_Missense_Mutation_p.Y810H|CNTN6_ENST00000350110.2_Missense_Mutation_p.Y882H			Q9UQ52	CNTN6_HUMAN	contactin 6	882	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CGTAAGAGCTTACAACACTGC	0.443													69	200					0	0	0	0	C	1427421	T	C	1427421	3	2	89	1	0	0	0	0	1	0	0	0	3675	1754	61	5	2718	5	CNTN6	3	1427421	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08		1427421	196595009	30	17236											
SLC22A14	9389	broad.mit.edu	37	chr3	38357068	38357068	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggaggatggcctcagactCaagtggccacgttgtccggc	7	7	16	11	2	2	1	2	0	0	1	3	3	3	3	3	6	0	1	3	6	1	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:38357068C>G	ENST00000273173.4	+	8	1489	c.1398C>G	c.(1396-1398)ctC>ctG	p.L466L	SLC22A14_ENST00000448498.1_Silent_p.L466L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	466			L -> P (in dbSNP:rs34256819).			integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GCCTCAGACTCAAGTGGCCAC	0.592													6	89					0	0	0	0	G	38357068	C	G	38357068	2	3	89	1	0	0	0	0	0	0	0	1	14533	813	29	2		2	SLC22A14	3	38357068	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	36929647	38357068	159665362	31	17237											
ZNF445	353274	broad.mit.edu	37	chr3	44491047	44491047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccttaggctgagctgcctGcatgttcaggccccatggct	5	10	11	15	0	1	1	1	1	0	0	1	1	1	1	5	3	3	5	5	3	1	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:44491047G>C	ENST00000425708.2	-	6	1230	c.889C>G	c.(889-891)Cag>Gag	p.Q297E	ZNF445_ENST00000396077.2_Missense_Mutation_p.Q297E			P59923	ZN445_HUMAN	zinc finger protein 445	297	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGAGCTGCCTGCATGTTCAGG	0.532													3	89					0	0	0	0	C	44491047	G	C	44491047	3	2	89	1	0	0	0	0	1	0	0	0	18013	1328	46	4	2214	4	ZNF445	3	44491047	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	6133979	44491047	153531383	32	17238											
CADPS	8618	broad.mit.edu	37	chr3	62860609	62860610	+	Frame_Shift_Del	DEL	GC	GC	-																															ctggtacggctgggagacagGcgcgcgccggacggggccga																										TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:62860609_62860610delGC	ENST00000383710.4	-	1	444_445	c.95_96delGC	c.(94-96)cfs	p.R32fs	CADPS_ENST00000283269.9_Frame_Shift_Del_p.R32fs|CADPS_ENST00000357948.3_Frame_Shift_Del_p.R32fs|CADPS_ENST00000490353.2_Frame_Shift_Del_p.R32fs	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	32					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGGGAGACAGGCGCGCGCCGGA	0.757													7	10	---	---	---	---					-	62860610	GC	-	62860609	7	5	89	1	0	1	0	1	0	0	0	0	2595	1190	42	0	4158	0	CADPS	3	62860609	Frame_Shift_Del	DEL	GC	TCGA-CN-5373-01A-01D-1434-08	18369562	62860609	135161821	33	17239											
HTR1F	3355	broad.mit.edu	37	chr3	88039929	88039929	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaattcatctgatcaaaaCttgacctcagaggaactgtt	14	13	6	8	0	4	3	3	2	1	1	4	4	4	4	1	1	2	1	1	1	5	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:88039929C>G	ENST00000319595.4	+	1	84	c.30C>G	c.(28-30)aaC>aaG	p.N10K		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	10					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CTGATCAAAACTTGACCTCAG	0.373													45	107					0	0	0	0	G	88039929	C	G	88039929	3	3	89	1	0	0	0	0	1	0	0	0	7493	564	20	4	32	4	HTR1F	3	88039929	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	25179320	88039929	109982501	34	17240											
FSTL1	11167	broad.mit.edu	37	chr3	120128487	120128487	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgacgtcggagctcatcAcggttggactgatagcaaac	11	8	12	10	4	2	1	2	1	0	0	3	4	2	3	0	3	4	3	0	3	2	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:120128487A>G	ENST00000295633.3	-	6	710	c.354T>C	c.(352-354)cgT>cgC	p.R118R	FSTL1_ENST00000424703.2_Silent_p.R83R	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	118					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GGAGCTCATCACGGTTGGACT	0.532													3	107					0	0	0	0	G	120128487	A	G	120128487	2	3	89	1	0	0	0	0	0	0	0	1	6125	146	6	5		5	FSTL1	3	120128487	Silent	SNP	A	TCGA-CN-5373-01A-01D-1434-08	32088558	120128487	77893943	35	17241											
NPHP3	27031	broad.mit.edu	37	chr3	132407968	132407968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgccccaaggtttcataaaGatcagctaagcaactcatgt	13	10	7	11	1	3	1	3	0	0	1	4	1	3	1	2	1	3	3	2	1	5	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:132407968G>A	ENST00000337331.5	-	20	2919	c.2833C>T	c.(2833-2835)Ctt>Ttt	p.L945F	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	945					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTTTCATAAAGATCAGCTAAG	0.448													31	220					0	0	0	0	A	132407968	G	A	132407968	3	1	89	1	0	0	0	0	1	0	0	0	10650	942	33	2	1191	2	NPHP3	3	132407968	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	12279481	132407968	65614462	36	17242											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			37	77					0	0	0	0	G	178952085	A	G	178952085	3	3	89	1	0	0	0	0	1	0	0	0	11985	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-CN-5373-01A-01D-1434-08	46544117	178952085	19070345	37	17243											
DVL3	1857	broad.mit.edu	37	chr3	183873499	183873499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagctgcccctgcccgccGagcgcgtcaccttggcggac	5	6	13	17	5	1	1	1	1	0	0	1	3	1	2	5	2	4	1	5	2	1	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:183873499G>A	ENST00000313143.3	+	1	324	c.76G>A	c.(76-78)Gag>Aag	p.E26K	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.E26K|DVL3_ENST00000462665.1_3'UTR	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	26	DIX.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCTGCCCGCCGAGCGCGTCAC	0.617													24	84					0	0	0	0	A	183873499	G	A	183873499	3	1	89	1	0	0	0	0	1	0	0	0	4873	1059	37	1	78	1	DVL3	3	183873499	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	4921414	183873499	14148931	38	17244											
IDUA	3425	broad.mit.edu	37	chr4	996877	996877	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgcagccccgacggcGagtggcggcgcctgggccgg	3	4	19	15	6	1	0	0	0	1	0	1	2	1	0	4	6	2	2	4	6	0	0			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:996877G>T	ENST00000453894.1	+	7	1610	c.1522G>T	c.(1522-1524)Gag>Tag	p.E508*	IDUA_ENST00000247933.4_Nonsense_Mutation_p.E486*|IDUA_ENST00000514224.1_Nonsense_Mutation_p.E354*			P35475	IDUA_HUMAN	iduronidase, alpha-L-	486					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	CCCCGACGGCGAGTGGCGGCG	0.771													3	10					0.217242	0.221156	1	0	T	996877	G	T	996877	4	4	89	1	0	0	0	0	0	1	0	0	7557	1059	37	3	1494	3	IDUA	4	996877	Nonsense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08		996877	190157399	39	17245											
SLIT2	9353	broad.mit.edu	37	chr4	20619158	20619158	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgatgaagaggaggaTctgtttaacccatgccaggc	10	10	12	9	0	2	3	0	2	2	1	2	5	2	5	2	3	2	1	2	3	2	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:20619158T>A	ENST00000504154.1	+	36	4485	c.4233T>A	c.(4231-4233)gaT>gaA	p.D1411E	SLIT2_ENST00000503837.1_Missense_Mutation_p.D1407E|SLIT2_ENST00000273739.5_Missense_Mutation_p.D1424E|SLIT2_ENST00000503823.1_Missense_Mutation_p.D1403E	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1411					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGAGGAGGATCTGTTTAACC	0.552													16	51					0	0	0	0	A	20619158	T	A	20619158	3	1	89	1	0	0	0	0	1	0	0	0	14828	1432	50	5	4375	5	SLIT2	4	20619158	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08	19622281	20619158	170535118	40	17246											
KLF3	51274	broad.mit.edu	37	chr4	38691484	38691484	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactcagtgtcccccccgCaagcattgttgcaagagtaa	11	9	9	12	1	1	2	1	1	0	1	2	2	2	2	3	0	3	5	3	0	4	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:38691484C>T	ENST00000261438.5	+	4	984	c.679C>T	c.(679-681)Caa>Taa	p.Q227*	KLF3_ENST00000514033.1_Nonsense_Mutation_p.Q227*	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	227	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GTCCCCCCCGCAAGCATTGTT	0.428													61	205					0	0	0	0	T	38691484	C	T	38691484	4	4	89	1	0	0	0	0	0	1	0	0	8399	711	25	4	689	4	KLF3	4	38691484	Nonsense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	18072326	38691484	152462792	41	17247											
ANKRD17	26057	broad.mit.edu	37	chr4	73990709	73990709	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcttcaatgtctgcaccaTtgtccagcaatatttccaca	10	12	7	12	0	2	0	1	0	1	0	4	0	4	0	3	1	2	3	3	1	3	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:73990709T>A	ENST00000358602.4	-	18	3529	c.3413A>T	c.(3412-3414)aAt>aTt	p.N1138I	ANKRD17_ENST00000509867.2_Missense_Mutation_p.N1025I|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.N887I	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1138					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCTGCACCATTGTCCAGCAA	0.463													67	172					0	0	0	0	A	73990709	T	A	73990709	3	1	89	1	0	0	0	0	1	0	0	0	646	1493	52	5	4466	5	ANKRD17	4	73990709	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08	35299225	73990709	117163567	42	17248											
HSD17B11	51170	broad.mit.edu	37	chr4	88312201	88312201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtaacgggagaagcaggaGgatgtccagaagaaatttca	16	6	13	6	1	1	3	1	0	0	3	2	6	2	5	1	3	2	2	1	3	4	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:88312201G>A	ENST00000358290.4	-	1	337	c.22C>T	c.(22-24)Ctc>Ttc	p.L8F	HSD17B11_ENST00000507286.1_Missense_Mutation_p.L8F	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	8					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)		AGAAGCAGGAGGATGTCCAGA	0.443													18	57					0	0	0	0	A	88312201	G	A	88312201	3	1	89	1	0	0	0	0	1	0	0	0	7430	1000	35	4	908	4	HSD17B11	4	88312201	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	14321492	88312201	102842075	43	17249											
SEC24B	10427	broad.mit.edu	37	chr4	110433145	110433145	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataacatcaaataccattgtGaggtgccgatcctgtcgaac	13	10	8	10	2	1	1	1	1	0	0	3	3	2	1	3	1	4	0	3	1	4	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:110433145G>A	ENST00000265175.5	+	9	1864	c.1809G>A	c.(1807-1809)gtG>gtA	p.V603V	SEC24B_ENST00000504968.2_Silent_p.V633V|SEC24B_ENST00000399100.2_Silent_p.V568V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	603					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATACCATTGTGAGGTGCCGAT	0.388													40	109					0	0	0	0	A	110433145	G	A	110433145	2	1	89	1	0	0	0	0	0	0	0	1	14082	1277	45	2		2	SEC24B	4	110433145	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	22120944	110433145	80721131	44	17250											
CFI	3426	broad.mit.edu	37	chr4	110667591	110667591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgtattcaattactatacGtttaaggtcggggtgtatcc	10	14	9	8	3	1	0	1	0	0	0	3	0	2	0	1	3	2	3	1	3	7	8			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:110667591G>A	ENST00000394634.2	-	11	1423	c.1216C>T	c.(1216-1218)Cgt>Tgt	p.R406C	CFI_ENST00000394635.3_Missense_Mutation_p.R414C|CFI_ENST00000512148.1_Missense_Mutation_p.R399C	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	406	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		ATTACTATACGTTTAAGGTCG	0.333													22	72					0	0	0	0	A	110667591	G	A	110667591	3	1	89	1	0	0	0	0	1	0	0	0	3318	1145	40	1	547	1	CFI	4	110667591	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	234446	110667591	80486685	45	17251											
MAML3	55534	broad.mit.edu	37	chr4	140810676	140810676	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgttgctgttgctgCtgctgttgctgctgctggat	1	17	14	9	0	0	0	0	0	0	0	0	1	0	1	0	1	9	12	0	1	0	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:140810676C>T	ENST00000509479.2	-	2	2770	c.1914G>A	c.(1912-1914)caG>caA	p.Q638Q	MAML3_ENST00000398940.1_Silent_p.Q166Q|MAML3_ENST00000327122.5_Silent_p.Q482Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	634	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgttgctgctgctgttgct	0.592													18	42					0	0	0	0	T	140810676	C	T	140810676	2	4	89	1	0	0	0	0	0	0	0	1	9276	796	28	4		4	MAML3	4	140810676	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	30143085	140810676	50343600	46	17252											
FNIP2	57600	broad.mit.edu	37	chr4	159791528	159791528	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcacttctggcgggctactgCcccacatacatgcctgatct	7	11	8	15	1	3	1	1	1	2	0	3	1	3	1	3	2	4	1	3	2	2	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:159791528C>T	ENST00000264433.6	+	14	2931	c.2856C>T	c.(2854-2856)tgC>tgT	p.C952C	FNIP2_ENST00000379346.3_Silent_p.C975C	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	952					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CGGGCTACTGCCCCACATACA	0.522													4	110					0	0	0	0	T	159791528	C	T	159791528	2	4	89	1	0	0	0	0	0	0	0	1	6021	747	26	4		4	FNIP2	4	159791528	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	18980852	159791528	31362748	47	17253											
CDH12	1010	broad.mit.edu	37	chr5	21760760	21760760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaggtgaaagatctcggtCtgcagcactgactatctgaa	12	9	11	9	1	3	4	0	3	3	1	4	4	3	4	0	2	3	3	0	2	3	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:21760760C>T	ENST00000382254.1	-	13	2626	c.1540G>A	c.(1540-1542)Gac>Aac	p.D514N	CDH12_ENST00000522262.1_Missense_Mutation_p.D474N|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.D514N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	514	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGATCTCGGTCTGCAGCACTG	0.403										HNSCC(59;0.17)			62	180					0	0	0	0	T	21760760	C	T	21760760	3	4	89	1	0	0	0	0	1	0	0	0	3127	913	32	2	856	2	CDH12	5	21760760	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08		21760760	159154500	48	17254											
UGT3A2	167127	broad.mit.edu	37	chr5	36037913	36037913	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatacctcttgtcttccatGatttgtttcatcttaagagc	8	17	6	10	0	4	2	1	1	3	1	5	2	5	2	2	0	2	2	2	0	2	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:36037913G>T	ENST00000282507.3	-	6	1382	c.1281C>A	c.(1279-1281)atC>atA	p.I427I	UGT3A2_ENST00000545528.1_Silent_p.I125I|UGT3A2_ENST00000513300.1_Silent_p.I393I	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	427						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTCTTCCATGATTTGTTTCA	0.413													61	239					2.02796e-37	2.2689e-37	1	0	T	36037913	G	T	36037913	2	4	89	1	0	0	0	0	0	0	0	1	17060	1280	45	2		2	UGT3A2	5	36037913	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	14277153	36037913	144877347	49	17255											
NIPBL	25836	broad.mit.edu	37	chr5	36986340	36986340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagaaacttattaaagatAgagaggacaaatcaagaagt	20	9	8	4	0	2	4	2	0	0	4	2	6	2	5	0	1	1	0	0	1	8	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:36986340A>G	ENST00000282516.8	+	10	3557	c.3058A>G	c.(3058-3060)Aga>Gga	p.R1020G	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1020G|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1020					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TATTAAAGATAGAGAGGACAA	0.299													53	156					0	0	0	0	G	36986340	A	G	36986340	3	3	89	1	0	0	0	0	1	0	0	0	10498	412	15	5	3092	5	NIPBL	5	36986340	Missense_Mutation	SNP	A	TCGA-CN-5373-01A-01D-1434-08	948427	36986340	143928920	50	17256											
CMYA5	202333	broad.mit.edu	37	chr5	79031362	79031362	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttagtaaaatctggtgaCggtcaaaacgttaaagaaaa	18	10	8	5	2	2	2	1	1	1	1	2	2	2	2	0	2	1	2	0	2	9	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:79031362C>T	ENST00000446378.2	+	2	6805	c.6774C>T	c.(6772-6774)gaC>gaT	p.D2258D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2258						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATCTGGTGACGGTCAAAACG	0.338													29	123					0	0	0	0	T	79031362	C	T	79031362	2	4	89	1	0	0	0	0	0	0	0	1	3620	535	19	1		1	CMYA5	5	79031362	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	42045022	79031362	101883898	51	17257											
GPR98	84059	broad.mit.edu	37	chr5	89947506	89947507	+	Frame_Shift_Ins	INS	-	-	A																															gcattttttctctggagcccINSatagacaaagcagtggaaga																										TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:89947506_89947507insA	ENST00000405460.2	+	18	3471_3472	c.3375_3376insA	c.(3373-3378)cctagafs	p.R1126fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1126					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTCTGGAGCCCATAGACAAAGC	0.342													10	42	---	---	---	---					A	89947507	-	A	89947506	7	5	89	1	0	1	1	0	0	0	0	0	6771	581	21	0	3445	0	GPR98	5	89947506	Frame_Shift_Ins	INS	-	TCGA-CN-5373-01A-01D-1434-08	10916144	89947506	90967754	52	17258											
MCTP1	79772	broad.mit.edu	37	chr5	94204039	94204039	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatacagtatgatcataccAcaaaagcagcgagactcctt	16	9	6	10	1	1	2	1	1	0	1	2	3	2	2	2	0	4	2	2	0	6	5			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:94204039A>G	ENST00000515393.1	-	17	2434	c.2436_splice	c.e17+1	p.V812_splice	MCTP1_ENST00000505208.1_Splice_Site_p.V591_splice|MCTP1_ENST00000505078.1_Splice_Site_p.V328_splice|MCTP1_ENST00000429576.2_Splice_Site_p.V545_splice|MCTP1_ENST00000312216.8_Splice_Site_p.V591_splice	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	812					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGATCATACCACAAAAGCAGC	0.383													12	47					0	0	0	0	G	94204039	A	G	94204039	5	3	89	1	0	0	0	0	0	0	1	0	9469	173	6	5	592	5	MCTP1	5	94204039	Splice_Site	SNP	A	TCGA-CN-5373-01A-01D-1434-08	4256533	94204039	86711221	53	17259											
FAM81B	153643	broad.mit.edu	37	chr5	94764361	94764361	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcacttattcaggcaagaGcaccggcaaattgagaaagc	15	8	9	9	1	2	2	2	1	0	2	2	3	2	2	1	2	2	3	1	2	4	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:94764361G>A	ENST00000283357.5	+	6	757	c.711G>A	c.(709-711)gaG>gaA	p.E237E		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	237										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TCAGGCAAGAGCACCGGCAAA	0.408													7	240					0	0	0	0	A	94764361	G	A	94764361	2	1	89	1	0	0	0	0	0	0	0	1	5675	962	34	4		4	FAM81B	5	94764361	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	560322	94764361	86150899	54	17260											
SNX2	6643	broad.mit.edu	37	chr5	122135441	122135441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagggaacctatcctatcctCggaaccttctcctgcagtca	10	10	7	14	1	2	0	1	0	1	0	6	2	4	2	5	2	3	1	5	2	5	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:122135441C>T	ENST00000379516.2	+	3	389	c.281C>T	c.(280-282)tCg>tTg	p.S94L	SNX2_ENST00000514949.1_5'UTR|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	94					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		ATCCTATCCTCGGAACCTTCT	0.438													60	233					0	0	0	0	T	122135441	C	T	122135441	3	4	89	1	0	0	0	0	1	0	0	0	14979	893	31	1	291	1	SNX2	5	122135441	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	27371080	122135441	58779819	55	17261											
PCDHA8	56140	broad.mit.edu	37	chr5	140222262	140222262	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgacgtgaacgacaatgcTccggcgttcgcgcagcccga	8	5	13	15	8	0	1	0	1	0	0	2	4	1	1	3	1	3	3	3	1	2	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140222262T>C	ENST00000531613.1	+	1	1356	c.1356T>C	c.(1354-1356)gcT>gcC	p.A452A	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.A452A	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAATGCTCCGGCGTTCG	0.672													37	101					0	0	0	0	C	140222262	T	C	140222262	2	2	89	1	0	0	0	0	0	0	0	1	11601	1538	54	5		5	PCDHA8	5	140222262	Silent	SNP	T	TCGA-CN-5373-01A-01D-1434-08	18086821	140222262	40692998	56	17262											
PCDHA9	9752	broad.mit.edu	37	chr5	140229433	140229433	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgacgtgaacgacaaCgcaccagcgttcgcgcagtc	9	5	13	14	7	0	1	0	1	0	0	2	3	0	1	2	1	3	3	2	1	2	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140229433C>T	ENST00000378122.3	+	1	2077	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.N451N|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCACCAGCGT	0.672													6	155					0	0	0	0	T	140229433	C	T	140229433	2	4	89	1	0	0	0	0	0	0	0	1	11602	535	19	1		1	PCDHA9	5	140229433	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	7171	140229433	40685827	57	17263											
PCDHB2	56133	broad.mit.edu	37	chr5	140475977	140475977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcgagttccgcgtgggcGccgcagaccgcggctccccg	3	6	15	17	9	0	1	0	0	0	1	3	2	2	1	5	2	0	4	5	2	0	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140475977G>A	ENST00000194155.4	+	1	1751	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		535	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGTGGGCGCCGCAGACCG	0.692													16	90					0	0	0	0	A	140475977	G	A	140475977	3	1	89	1	0	0	0	0	1	0	0	0	11613	1087	38	1	1605	1	PCDHB2	5	140475977	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	246544	140475977	40439283	58	17264											
PCDHB11	56125	broad.mit.edu	37	chr5	140579470	140579470	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcagaagaaatgcagagCgggagttttgtaggcaatct	12	9	15	5	1	1	3	0	0	1	3	1	4	1	4	0	3	2	5	0	3	4	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140579470C>T	ENST00000354757.3	+	1	123	c.123C>T	c.(121-123)agC>agT	p.S41S	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		41	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATGCAGAGCGGGAGTTTTG	0.522													36	123					0	0	0	0	T	140579470	C	T	140579470	2	4	89	1	0	0	0	0	0	0	0	1	11607	767	27	1		1	PCDHB11	5	140579470	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	103493	140579470	40335790	59	17265											
SLC25A2	83884	broad.mit.edu	37	chr5	140682600	140682610	+	Frame_Shift_Del	DEL	GGGATTGCTCG	GGGATTGCTCG	-																															caaacagtgccccattggcaGggattgctcgaatcatagta																										TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140682600_140682610delGGGATTGCTCG	ENST00000239451.4	-	1	1002_1012	c.823_833delCGAGCAATCCC	c.(823-834)tfs	p.RAIP275fs		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	275					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCCATTGGCAGGGATTGCTCGAATCATAGTA	0.441													12	47	---	---	---	---					-	140682610	GGGATTGCTCG	-	140682600	7	5	89	1	0	1	0	1	0	0	0	0	14570	1000	35	0	76	0	SLC25A2	5	140682600	Frame_Shift_Del	DEL	GGGATTGCTCG	TCGA-CN-5373-01A-01D-1434-08	103130	140682600	40232660	60	17266											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711947	140711947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgagatcctgtaccccGccctccccacagatggttct	6	8	8	19	3	1	2	0	0	1	2	3	3	3	2	7	1	1	2	7	1	1	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140711947G>A	ENST00000517417.1	+	1	1696	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A566T	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTACCCCGCCCTCCCCAC	0.667													78	201					0	0	0	0	A	140711947	G	A	140711947	3	1	89	1	0	0	0	0	1	0	0	0	11621	1087	38	1	1698	1	PCDHGA1	5	140711947	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	29347	140711947	40203313	61	17267											
PCDHGA5	56110	broad.mit.edu	37	chr5	140743969	140743969	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctcctggggacgctgtgCgagccaggatccgggcagat	7	7	16	11	3	0	1	0	0	0	1	2	4	2	3	3	4	3	3	3	4	0	0			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140743969C>A	ENST00000518069.1	+	1	72	c.72C>A	c.(70-72)tgC>tgA	p.C24*	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCTGTGCGAGCCAGGAT	0.627													13	43					2.27111e-07	2.43256e-07	1	0	A	140743969	C	A	140743969	4	1	89	1	0	0	0	0	0	1	0	0	11628	776	27	3	74	3	PCDHGA5	5	140743969	Nonsense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	32022	140743969	40171291	62	17268											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794626	140794626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgggggagcacacgggCgaggtgcgcacggcgcgagc	6	2	22	11	7	0	0	0	0	0	0	0	3	0	1	0	6	3	2	0	6	0	0			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140794626C>T	ENST00000398610.2	+	1	1884	c.1884C>T	c.(1882-1884)ggC>ggT	p.G628G	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACACGGGCGAGGTGCGCA	0.697													28	104					0	0	0	0	T	140794626	C	T	140794626	2	4	89	1	0	0	0	0	0	0	0	1	11622	755	27	1		1	PCDHGA10	5	140794626	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	50657	140794626	40120634	63	17269											
PCDH12	51294	broad.mit.edu	37	chr5	141336333	141336333	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagagcttctgacaccaGtgatggctgggaggcccatg	9	7	16	9	0	1	3	0	2	1	1	1	5	1	5	2	4	1	2	2	4	1	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:141336333G>A	ENST00000231484.3	-	1	2294	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	362	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGACACCAGTGATGGCTGG	0.502													46	169					0	0	0	0	A	141336333	G	A	141336333	2	1	89	1	0	0	0	0	0	0	0	1	11581	1020	36	4		4	PCDH12	5	141336333	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	541707	141336333	39578927	64	17270											
GEMIN5	25929	broad.mit.edu	37	chr5	154305443	154305443	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtaaccttggacttcacGccttgccaaaaatttttcac	10	13	6	12	1	2	0	2	0	0	0	2	1	2	1	3	1	2	2	3	1	3	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:154305443G>T	ENST00000285873.7	-	8	1347	c.1272C>A	c.(1270-1272)ggC>ggA	p.G424G		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	424					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGACTTCACGCCTTGCCAAA	0.373													25	101					1.64293e-13	1.79373e-13	1	0	T	154305443	G	T	154305443	2	4	89	1	0	0	0	0	0	0	0	1	6382	1074	38	3		3	GEMIN5	5	154305443	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	12969110	154305443	26609817	65	17271											
MAS1L	116511	broad.mit.edu	37	chr6	29454873	29454873	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtaggaacatgggggcCgagatctgcaccaccgcata	12	5	13	11	2	1	2	0	0	1	2	1	4	1	3	3	3	2	3	3	3	3	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:29454873C>T	ENST00000377127.3	-	1	865	c.807G>A	c.(805-807)tcG>tcA	p.S269S		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	269						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						ACATGGGGGCCGAGATCTGCA	0.517													18	60					0	0	0	0	T	29454873	C	T	29454873	2	4	89	1	0	0	0	0	0	0	0	1	9390	639	23	1		1	MAS1L	6	29454873	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08		29454873	141660194	66	17272											
DDR1	780	broad.mit.edu	37	chr6	30865889	30865889	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagcccagatcgcctcCggcatgcgctatctggccac	6	7	12	16	3	1	1	0	0	1	1	3	1	2	1	4	3	2	3	4	3	1	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:30865889C>T	ENST00000324771.8	+	18	2804	c.2256C>T	c.(2254-2256)tcC>tcT	p.S752S	DDR1_ENST00000361741.4_Silent_p.S419S|DDR1_ENST00000376568.3_Silent_p.S752S|DDR1_ENST00000452441.1_Silent_p.S752S|DDR1_ENST00000376569.3_Silent_p.S715S|DDR1_ENST00000418800.2_Silent_p.S715S|DDR1_ENST00000376575.3_Silent_p.S758S|DDR1_ENST00000513240.1_Silent_p.S758S|DDR1_ENST00000376567.2_Silent_p.S715S|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Silent_p.S733S|DDR1_ENST00000376570.4_Silent_p.S715S|DDR1_ENST00000454612.2_Silent_p.S715S			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	752	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGATCGCCTCCGGCATGCGCT	0.562													6	47					0	0	0	0	T	30865889	C	T	30865889	2	4	89	1	0	0	0	0	0	0	0	1	4368	639	23	1		1	DDR1	6	30865889	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	1411016	30865889	140249178	67	17273											
EGFL8	80864	broad.mit.edu	37	chr6	32134330	32134330	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgctccactacaacgagtccTacagccaaccagtgtacaag	13	6	7	15	2	0	0	0	0	0	0	2	1	2	0	4	0	6	2	4	0	6	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:32134330T>C	ENST00000395512.1	+	3	262	c.157T>C	c.(157-159)Tac>Cac	p.Y53H	EGFL8_ENST00000333845.6_Missense_Mutation_p.Y53H|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	53	EMI.					extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CAACGAGTCCTACAGCCAACC	0.592													30	128					0	0	0	0	C	32134330	T	C	32134330	3	2	89	1	0	0	0	0	1	0	0	0	5001	1522	53	5	163	5	EGFL8	6	32134330	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08	1268441	32134330	138980737	68	17274											
DAXX	1616	broad.mit.edu	37	chr6	33288742	33288742	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgatgagccgctcaatGcgcctgttaacctctgggta	7	13	11	10	2	2	2	1	2	1	0	2	2	2	2	3	1	3	4	3	1	3	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:33288742G>A	ENST00000374542.5	-	3	1014	c.810C>T	c.(808-810)cgC>cgT	p.R270R	DAXX_ENST00000414083.2_Silent_p.R195R|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Silent_p.R270R	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	270					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCCGCTCAATGCGCCTGTTAA	0.597			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								51	121					0	0	0	0	A	33288742	G	A	33288742	2	1	89	1	0	0	0	0	0	0	0	1	4276	1306	46	4		4	DAXX	6	33288742	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	1154412	33288742	137826325	69	17275											
GPRC6A	222545	broad.mit.edu	37	chr6	117127943	117127943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatggtggtaatcttggTggcagttgaccaattatcac	11	12	12	6	0	2	1	1	1	1	0	2	2	2	2	1	5	0	3	1	5	4	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:117127943T>C	ENST00000310357.3	-	3	946	c.925A>G	c.(925-927)Acc>Gcc	p.T309A	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Missense_Mutation_p.T309A	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	309					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTAATCTTGGTGGCAGTTGAC	0.348													38	130					0	0	0	0	C	117127943	T	C	117127943	3	2	89	1	0	0	0	0	1	0	0	0	6778	1696	59	5	1871	5	GPRC6A	6	117127943	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08	83839201	117127943	53987124	70	17276											
CTGF	1490	broad.mit.edu	37	chr6	132270566	132270567	+	Frame_Shift_Ins	INS	-	-	T																															ccggcagggtggtggttctgINStggggggtgcagcatcggcc																										TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:132270566_132270567insT	ENST00000367976.3	-	5	1087_1088	c.887_888insA	c.(886-888)cagfs	p.Q296fs		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	296	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TGGTGGTTCTGTGGGGGGTGCA	0.53													64	287	---	---	---	---					T	132270567	-	T	132270566	7	5	89	1	0	1	1	0	0	0	0	0	4040	1368	48	0	165	0	CTGF	6	132270566	Frame_Shift_Ins	INS	-	TCGA-CN-5373-01A-01D-1434-08	15142623	132270566	38844501	71	17277											
RPS6KA2	6196	broad.mit.edu	37	chr6	166831722	166831722	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtactcactttagctgcGtcagatatcgagtcccagtt	9	13	8	11	2	2	1	2	0	0	1	4	2	3	1	1	0	3	3	1	0	3	5	rs149521975	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:166831722G>A	ENST00000510118.1	-	21	2344	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D	RPS6KA2_ENST00000481261.2_Silent_p.D554D|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Silent_p.D651D|RPS6KA2_ENST00000405189.3_Silent_p.D554D|RPS6KA2_ENST00000265678.4_Silent_p.D643D			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	643	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTTTAGCTGCGTCAGATATCG	0.473													42	149					0	0	0	0	A	166831722	G	A	166831722	2	1	89	1	0	0	0	0	0	0	0	1	13736	1136	40	1		1	RPS6KA2	6	166831722	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	34561156	166831722	4283345	72	17278											
THSD7A	221981	broad.mit.edu	37	chr7	11630143	11630143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttcgttggcctgcacgCagtacacctctcgggtctgg	4	12	13	12	3	2	0	0	0	2	0	4	0	2	0	2	4	2	5	2	4	1	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:11630143C>T	ENST00000423059.3	-	4	1648	c.1397G>A	c.(1396-1398)tGc>tAc	p.C466Y		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	466	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGCCTGCACGCAGTACACCTC	0.532										HNSCC(18;0.044)			19	76					0	0	0	0	T	11630143	C	T	11630143	3	4	89	1	0	0	0	0	1	0	0	0	15973	710	25	4	3672	4	THSD7A	7	11630143	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08		11630143	147508520	73	17279											
CCDC129	223075	broad.mit.edu	37	chr7	31617732	31617732	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgaaggatgaagtttttgTtccctttacaaaaccatggg	11	13	11	6	0	0	2	0	2	0	0	1	3	1	3	2	3	2	2	2	3	5	5			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:31617732T>C	ENST00000409210.1	+	6	762	c.578T>C	c.(577-579)gTt>gCt	p.V193A	CCDC129_ENST00000407970.3_Missense_Mutation_p.V285A|CCDC129_ENST00000451887.2_Missense_Mutation_p.V311A|CCDC129_ENST00000319386.3_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	285										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAAGTTTTTGTTCCCTTTACA	0.438													15	28					0	0	0	0	C	31617732	T	C	31617732	3	2	89	1	0	0	0	0	1	0	0	0	2789	1725	60	5	880	5	CCDC129	7	31617732	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08	19987589	31617732	127520931	74	17280											
ZNF716	441234	broad.mit.edu	37	chr7	57528992	57528992	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacatgtgaagaacgtggCaaagtctttagccgctcaac	13	9	9	10	2	2	2	1	1	1	1	2	2	2	2	1	1	4	2	1	1	6	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:57528992C>G	ENST00000420713.1	+	4	937	c.825C>G	c.(823-825)ggC>ggG	p.G275G		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAGAACGTGGCAAAGTCTTTA	0.423													13	39					0	0	0	0	G	57528992	C	G	57528992	2	3	89	1	0	0	0	0	0	0	0	1	18214	697	25	4		4	ZNF716	7	57528992	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	25911260	57528992	101609671	75	17281											
ALKBH4	54784	broad.mit.edu	37	chr7	102097843	102097843	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagccaaggaggcggttcAcacgggtcttccctggaagg	8	7	16	10	2	2	0	1	0	1	0	3	3	3	3	2	7	1	1	2	7	2	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:102097843A>T	ENST00000292566.3	-	3	946	c.907T>A	c.(907-909)Tga>Aga	p.*303R		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	0						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						GAGGCGGTTCACACGGGTCTT	0.602													20	95					0	0	0	0	T	102097843	A	T	102097843	4	4	89	1	0	0	0	0	0	0	0	0	529	172	6	5	5	5	ALKBH4	7	102097843	Nonstop_Mutation	SNP	A	TCGA-CN-5373-01A-01D-1434-08	44568851	102097843	57040820	76	17282											
TAS2R41	259287	broad.mit.edu	37	chr7	143175526	143175526	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccatccctgaaactggtCatctggtcaattcctttttc	7	16	5	13	0	3	1	2	1	1	0	7	1	6	1	3	2	1	0	3	2	2	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:143175526C>A	ENST00000408916.1	+	1	561	c.561C>A	c.(559-561)gtC>gtA	p.V187V	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	187					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGAAACTGGTCATCTGGTCAA	0.378													20	93					5.03518e-11	5.47092e-11	1	0	A	143175526	C	A	143175526	2	1	89	1	0	0	0	0	0	0	0	1	15670	813	29	2		2	TAS2R41	7	143175526	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	41077683	143175526	15963137	77	17283											
KCNH2	3757	broad.mit.edu	37	chr7	150647097	150647097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtggggctcctctccatggCcccgcttggagggcctgagt	3	9	15	14	2	1	1	0	1	1	0	3	2	2	2	5	5	0	2	5	5	0	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:150647097C>T	ENST00000430723.3	-	9	2569	c.2557G>A	c.(2557-2559)Gcc>Acc	p.A853T	KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000262186.5_Intron|KCNH2_ENST00000330883.4_Intron	NM_172056.2	NP_742053.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	0					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CTCTCCATGGCCCCGCTTGGA	0.577													5	6					0	0	0	0	T	150647097	C	T	150647097	3	4	89	1	0	0	0	0	1	0	0	0	8085	739	26	4	1219	4	KCNH2	7	150647097	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	7471571	150647097	8491566	78	17284											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886033	88886033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaatctggacctttttcCtctgcatgcagcttacacgc	8	14	7	12	1	2	1	0	1	2	0	3	2	3	2	2	1	4	3	2	1	3	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:88886033C>A	ENST00000319675.3	-	1	263	c.167G>T	c.(166-168)aGg>aTg	p.R56M		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	56										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GACCTTTTTCCTCTGCATGCA	0.507													70	99					1.26778e-28	1.4045e-28	1	0	A	88886033	C	A	88886033	3	1	89	1	0	0	0	0	1	0	0	0	4305	681	24	4	1024	4	DCAF4L2	8	88886033	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08		88886033	57477989	79	17285											
RGS22	26166	broad.mit.edu	37	chr8	101020655	101020655	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttgtccatggctcaagaAggaggagaaggatatattcc	12	11	11	7	0	2	2	1	0	1	2	4	5	4	4	2	4	0	1	2	4	5	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:101020655A>G	ENST00000360863.6	-	15	2503	c.2309T>C	c.(2308-2310)cTt>cCt	p.L770P	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523287.1_Missense_Mutation_p.L589P|RGS22_ENST00000523437.1_Missense_Mutation_p.L758P	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	770	Poly-Leu.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGGCTCAAGAAGGAGGAGAAG	0.378													6	230					0	0	0	0	G	101020655	A	G	101020655	3	3	89	1	0	0	0	0	1	0	0	0	13388	72	3	5	1537	5	RGS22	8	101020655	Missense_Mutation	SNP	A	TCGA-CN-5373-01A-01D-1434-08	12134622	101020655	45343367	80	17286											
RIMS2	9699	broad.mit.edu	37	chr8	105160892	105160892	+	Frame_Shift_Del	DEL	A	A	-																															atatcagggaagaacatgacAaaaagcaccagcatcagtgg																										TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:105160892delA	ENST00000436393.2	+	23	3445	c.3204delA	c.(3202-3204)acfs	p.T1068fs	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	497					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAACATGACAAAAAGCACCA	0.468										HNSCC(12;0.0054)			16	70	---	---	---	---					-	105160892	A	-	105160892	7	5	89	1	0	1	0	1	0	0	0	0	13453	145	5	0		0	RIMS2	8	105160892	Frame_Shift_Del	DEL	A	TCGA-CN-5373-01A-01D-1434-08	4140237	105160892	41203130	81	17287											
RSPO2	340419	broad.mit.edu	37	chr8	109001434	109001434	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattgtcctttgaacaagAcaaacaacccttgcaaatgg	14	9	6	12	0	0	2	0	1	0	1	1	2	1	2	3	1	4	1	3	1	5	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:109001434A>G	ENST00000276659.5	-	3	753	c.133T>C	c.(133-135)Tct>Cct	p.S45P	RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517939.1_5'UTR	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	45					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TTTGAACAAGACAAACAACCC	0.378													19	92					0	0	0	0	G	109001434	A	G	109001434	3	3	89	1	0	0	0	0	1	0	0	0	13795	275	10	5	614	5	RSPO2	8	109001434	Missense_Mutation	SNP	A	TCGA-CN-5373-01A-01D-1434-08	3840542	109001434	37362588	82	17288											
PKHD1L1	93035	broad.mit.edu	37	chr8	110439257	110439257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgctgctgtgtcagctgcaGatctgcagtttgcactccag	6	11	11	13	1	2	1	1	0	1	1	3	1	3	1	2	0	5	7	2	0	0	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:110439257G>A	ENST00000378402.5	+	25	2976	c.2872G>A	c.(2872-2874)Gat>Aat	p.D958N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	958					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCAGCTGCAGATCTGCAGTT	0.562										HNSCC(38;0.096)			35	194					0	0	0	0	A	110439257	G	A	110439257	3	1	89	1	0	0	0	0	1	0	0	0	12044	942	33	2	2970	2	PKHD1L1	8	110439257	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	1437823	110439257	35924765	83	17289											
TG	7038	broad.mit.edu	37	chr8	134042151	134042151	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacatccgaggatttggCggggaccctcggcgcgtgtc	6	7	14	14	5	0	0	0	0	0	0	3	3	1	2	3	5	0	0	3	5	0	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:134042151C>T	ENST00000220616.4	+	41	7162	c.7122C>T	c.(7120-7122)ggC>ggT	p.G2374G	TG_ENST00000377869.1_Silent_p.G2317G|TG_ENST00000519543.1_Silent_p.G507G|TG_ENST00000542445.1_Silent_p.G744G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2374					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGATTTGGCGGGGACCCTC	0.652													17	40					0	0	0	0	T	134042151	C	T	134042151	2	4	89	1	0	0	0	0	0	0	0	1	15907	755	27	1		1	TG	8	134042151	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	23602894	134042151	12321871	84	17290											
TG	7038	broad.mit.edu	37	chr8	134144071	134144071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcctggagctgctggcGgatgttcagtttgccttggg	4	12	15	10	1	2	0	2	0	0	0	2	2	2	2	2	4	4	4	2	4	0	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:134144071G>A	ENST00000220616.4	+	46	7918	c.7878G>A	c.(7876-7878)gcG>gcA	p.A2626A	TG_ENST00000377869.1_Silent_p.A2569A|TG_ENST00000519543.1_Silent_p.A759A|TG_ENST00000542445.1_Silent_p.A996A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2626					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCTGCTGGCGGATGTTCAGT	0.458													29	95					0	0	0	0	A	134144071	G	A	134144071	2	1	89	1	0	0	0	0	0	0	0	1	15907	1103	39	1		1	TG	8	134144071	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	101920	134144071	12219951	85	17291											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	9					0	0	0	0	A	21971120	G	A	21971120	4	1	89	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08		21971120	119242311	86	17292											
FGD3	89846	broad.mit.edu	37	chr9	95765216	95765216	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctctccgcagcactctggcCcccagaagcttctccacatt	7	10	6	18	1	3	1	0	0	3	1	6	1	4	1	4	1	2	3	4	1	1	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:95765216C>G	ENST00000375482.3	+	4	959	c.463C>G	c.(463-465)Ccc>Gcc	p.P155A	FGD3_ENST00000337352.6_Missense_Mutation_p.P155A|FGD3_ENST00000416701.2_Missense_Mutation_p.P155A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	155					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCACTCTGGCCCCCAGAAGCT	0.617													44	306					0	0	0	0	G	95765216	C	G	95765216	3	3	89	1	0	0	0	0	1	0	0	0	5879	623	22	4	469	4	FGD3	9	95765216	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	73794096	95765216	45448215	87	17293											
SNX30	401548	broad.mit.edu	37	chr9	115598545	115598545	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgctgaccagaatgggcGagtcagtcaagcacgtcact	11	8	11	11	2	3	2	3	1	0	1	3	3	3	2	1	1	2	2	1	1	2	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:115598545G>T	ENST00000374232.3	+	5	834	c.670G>T	c.(670-672)Gag>Tag	p.E224*		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	224					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAGAATGGGCGAGTCAGTCAA	0.507													56	194					5.82089e-37	6.4804e-37	1	0	T	115598545	G	T	115598545	4	4	89	1	0	0	0	0	0	1	0	0	14988	1059	37	3	688	3	SNX30	9	115598545	Nonsense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	19833329	115598545	25614886	88	17294											
BSPRY	54836	broad.mit.edu	37	chr9	116116596	116116596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtggcggacgtcctgcCggggaagaatcaaagagcag	11	6	16	8	3	1	2	1	0	0	2	2	4	2	4	2	4	2	2	2	4	4	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:116116596C>A	ENST00000374183.4	+	2	317	c.278C>A	c.(277-279)cCg>cAg	p.P93Q	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	93					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GACGTCCTGCCGGGGAAGAAT	0.522													14	57					0.000151284	0.000159025	1	0	A	116116596	C	A	116116596	3	1	89	1	0	0	0	0	1	0	0	0	1540	652	23	3	284	3	BSPRY	9	116116596	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	518051	116116596	25096835	89	17295											
LHX3	8022	broad.mit.edu	37	chr9	139090820	139090820	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcacgtggcgcgccggcttGggcgaggtgttgtaagcgct	4	8	18	11	7	0	0	0	0	0	0	0	1	0	0	1	4	1	5	1	4	1	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:139090820G>A	ENST00000371746.3	-	4	673	c.555C>T	c.(553-555)ccC>ccT	p.P185P	LHX3_ENST00000371748.5_Silent_p.P180P	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	180					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GCGCCGGCTTGGGCGAGGTGT	0.731													8	23					0	0	0	0	A	139090820	G	A	139090820	2	1	89	1	0	0	0	0	0	0	0	1	8826	1335	47	4		4	LHX3	9	139090820	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	22974224	139090820	2122611	90	17296											
DDX21	9188	broad.mit.edu	37	chr10	70741337	70741337	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatcagtaacagaaatacaGgtattcttttcccttagatt	13	14	6	8	0	2	2	1	0	1	2	3	2	3	2	1	1	2	3	1	1	5	8			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr10:70741337G>A	ENST00000354185.4	+	14	2180	c.2082_splice	c.e14+1	p.Q694_splice		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	694						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGAAATACAGGTATTCTTTT	0.328													4	130					0	0	0	0	A	70741337	G	A	70741337	5	1	89	1	0	0	0	0	0	0	1	0	4381	1014	35	4	2136	4	DDX21	10	70741337	Splice_Site	SNP	G	TCGA-CN-5373-01A-01D-1434-08		70741337	64793410	91	17297											
SCD	6319	broad.mit.edu	37	chr10	102116451	102116451	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaacagtgctgcccacctCttcggatatcgtccttatga	8	12	9	12	2	1	2	0	2	1	0	4	3	2	3	3	1	3	1	3	1	3	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr10:102116451C>G	ENST00000370355.2	+	5	1191	c.810C>G	c.(808-810)ctC>ctG	p.L270L		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	270					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		CTGCCCACCTCTTCGGATATC	0.488													3	139					0	0	0	0	G	102116451	C	G	102116451	2	3	89	1	0	0	0	0	0	0	0	1	13972	900	32	2		2	SCD	10	102116451	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	31375114	102116451	33418296	92	17298											
RBMXL2	27288	broad.mit.edu	37	chr11	7110534	7110534	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttgaaagccccgcagaCgccaaggccgccgccagaga	11	3	11	16	4	0	3	0	1	0	2	0	4	0	3	7	1	1	1	7	1	2	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:7110534C>T	ENST00000306904.5	+	1	370	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	61	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCCCGCAGACGCCAAGGCCG	0.617													4	28					0	0	0	0	T	7110534	C	T	7110534	2	4	89	1	0	0	0	0	0	0	0	1	13236	535	19	1		1	RBMXL2	11	7110534	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08		7110534	127895982	93	17299											
FBXO3	26273	broad.mit.edu	37	chr11	33768826	33768826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaatgtggtacagcttgtGtattcatatacccgacctgg	10	12	11	8	1	1	1	1	0	0	1	1	3	1	1	2	2	3	3	2	2	5	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:33768826G>A	ENST00000530401.1	-	10	1094	c.1074C>T	c.(1072-1074)taC>taT	p.Y358Y	FBXO3_ENST00000265651.3_Silent_p.Y363Y|FBXO3_ENST00000534136.1_Silent_p.Y363Y|FBXO3_ENST00000526785.1_Silent_p.Y250Y|FBXO3_ENST00000531080.1_Silent_p.Y50Y|FBXO3_ENST00000448981.2_Silent_p.Y363Y|FBXO3_ENST00000532057.1_Silent_p.Y50Y			Q9UK99	FBX3_HUMAN	F-box protein 3	363	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TACAGCTTGTGTATTCATATA	0.333													4	127					0	0	0	0	A	33768826	G	A	33768826	2	1	89	1	0	0	0	0	0	0	0	1	5784	1372	48	4		4	FBXO3	11	33768826	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	26658292	33768826	101237690	94	17300											
PAMR1	25891	broad.mit.edu	37	chr11	35513609	35513609	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacgcatgcagtctcctccGtaccagcctgctcggcactc	6	10	8	17	3	1	0	0	0	1	0	5	0	2	0	4	1	5	5	4	1	2	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:35513609G>A	ENST00000378880.2	-	3	808	c.363C>T	c.(361-363)taC>taT	p.Y121Y	PAMR1_ENST00000532848.1_Silent_p.Y81Y|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Silent_p.Y121Y|PAMR1_ENST00000278360.3_Silent_p.Y121Y	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	121					proteolysis	extracellular region	serine-type endopeptidase activity	p.Y121Y(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGTCTCCTCCGTACCAGCCTG	0.493													57	191					0	0	0	0	A	35513609	G	A	35513609	2	1	89	1	0	0	0	0	0	0	0	1	11484	1140	40	1		1	PAMR1	11	35513609	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	1744783	35513609	99492907	95	17301											
OR5A2	219981	broad.mit.edu	37	chr11	59189802	59189802	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccactagcacagacactaTtccaacgacaacactgacta	16	6	5	14	1	0	2	0	1	0	1	1	4	1	2	2	0	3	1	2	0	5	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:59189802T>C	ENST00000302040.4	-	1	647	c.625A>G	c.(625-627)Ata>Gta	p.I209V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ACAGACACTATTCCAACGACA	0.498													14	75					0	0	0	0	C	59189802	T	C	59189802	3	2	89	1	0	0	0	0	1	0	0	0	11211	1493	52	5	351	5	OR5A2	11	59189802	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08	23676193	59189802	75816714	96	17302											
ATL3	25923	broad.mit.edu	37	chr11	63403702	63403702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaatactccagtagtccccGacaggtgacctttgagccat	12	9	8	12	1	0	2	0	2	0	0	2	3	2	2	5	1	2	1	5	1	4	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:63403702G>A	ENST00000398868.3	-	9	1231	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	ATL3_ENST00000332645.4_Missense_Mutation_p.R346W|ATL3_ENST00000538786.1_Missense_Mutation_p.R301W	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	319					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AGTAGTCCCCGACAGGTGACC	0.358											OREG0021036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	186					0	0	0	0	A	63403702	G	A	63403702	3	1	89	1	0	0	0	0	1	0	0	0	1112	1057	37	1	690	1	ATL3	11	63403702	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	4213900	63403702	71602814	97	17303											
NAALADL1	10004	broad.mit.edu	37	chr11	64825682	64825682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctgcaccaggtcctcatCccgagggctggaggccaggt	7	6	14	14	1	1	0	1	0	0	0	3	2	3	1	4	5	2	3	4	5	0	0			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:64825682C>T	ENST00000358658.3	-	2	253	c.226G>A	c.(226-228)Gat>Aat	p.D76N	NAALADL1_ENST00000355721.3_Missense_Mutation_p.D76N|NAALADL1_ENST00000356632.3_Missense_Mutation_p.D76N|NAALADL1_ENST00000339885.2_Missense_Mutation_p.D76N|NAALADL1_ENST00000340252.4_Missense_Mutation_p.D76N|NAALADL1_ENST00000355369.2_Missense_Mutation_p.D76N	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	76					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						AGGTCCTCATCCCGAGGGCTG	0.677													14	42					0	0	0	0	T	64825682	C	T	64825682	3	4	89	1	0	0	0	0	1	0	0	0	10199	855	30	2	2064	2	NAALADL1	11	64825682	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	1421980	64825682	70180834	98	17304											
NPAS4	266743	broad.mit.edu	37	chr11	66190251	66190251	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatgctcacccacctggAgcctactgggcaggaaatcc	9	8	9	15	0	1	0	1	0	0	0	3	2	3	2	5	3	3	2	5	3	2	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:66190251A>T	ENST00000311034.2	+	4	713	c.537A>T	c.(535-537)ggA>ggT	p.G179G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	179					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACCCACCTGGAGCCTACTGGG	0.632													44	181					0	0	0	0	T	66190251	A	T	66190251	2	4	89	1	0	0	0	0	0	0	0	1	10635	291	11	5		5	NPAS4	11	66190251	Silent	SNP	A	TCGA-CN-5373-01A-01D-1434-08	1364569	66190251	68816265	99	17305											
DLG2	1740	broad.mit.edu	37	chr11	84245683	84245683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgagagaggttcttttctGatacatgcacgagttctggg	8	15	12	6	1	3	3	0	2	3	1	3	5	3	3	0	2	2	3	0	2	1	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:84245683G>A	ENST00000398309.2	-	2	604	c.134C>T	c.(133-135)tCa>tTa	p.S45L	DLG2_ENST00000532653.1_Missense_Mutation_p.S45L|DLG2_ENST00000376104.2_Missense_Mutation_p.S150L|DLG2_ENST00000543673.1_Missense_Mutation_p.S150L|DLG2_ENST00000524982.1_Missense_Mutation_p.S45L	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	45						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTTCTTTTCTGATACATGCAC	0.418													44	245					0	0	0	0	A	84245683	G	A	84245683	3	1	89	1	0	0	0	0	1	0	0	0	4592	1294	45	2	2725	2	DLG2	11	84245683	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	18055432	84245683	50760833	100	17306											
FAT3	120114	broad.mit.edu	37	chr11	92534195	92534195	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaccagctgaaaaatacAgtgctttcgttctttgtcaa	12	15	6	8	1	2	1	1	1	1	0	3	1	2	1	1	0	4	3	1	0	5	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:92534195A>G	ENST00000298047.6	+	9	8033	c.8016A>G	c.(8014-8016)acA>acG	p.T2672T	FAT3_ENST00000409404.2_Silent_p.T2672T|FAT3_ENST00000525166.1_Silent_p.T2522T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2672	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAAAATACAGTGCTTTCGT	0.483										TCGA Ovarian(4;0.039)			6	43					0	0	0	0	G	92534195	A	G	92534195	2	3	89	1	0	0	0	0	0	0	0	1	5736	175	7	5		5	FAT3	11	92534195	Silent	SNP	A	TCGA-CN-5373-01A-01D-1434-08	8288512	92534195	42472321	101	17307											
KDM4D	55693	broad.mit.edu	37	chr11	94731017	94731017	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggcacctgggaacaattCaggacctgctggaaaaggaa	13	7	13	8	0	1	0	1	0	0	0	1	4	1	4	2	5	2	2	2	5	5	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:94731017C>T	ENST00000335080.5	+	3	1313	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	KDM4D_ENST00000536741.1_Nonsense_Mutation_p.Q161*	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	161	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGGAACAATTCAGGACCTGCT	0.448													32	93					0	0	0	0	T	94731017	C	T	94731017	4	4	89	1	0	0	0	0	0	1	0	0	8184	827	29	2	483	2	KDM4D	11	94731017	Nonsense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	2196822	94731017	40275499	102	17308											
ATM	472	broad.mit.edu	37	chr11	108143452	108143452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttcttttcccgtaggctGatccttattcaaaatgggcc	8	14	8	11	1	2	1	1	1	1	0	4	1	4	1	3	2	0	3	3	2	4	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:108143452G>A	ENST00000278616.4	+	22	3542	c.3157G>A	c.(3157-3159)Gat>Aat	p.D1053N	ATM_ENST00000452508.2_Missense_Mutation_p.D1053N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1053					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCCGTAGGCTGATCCTTATTC	0.318			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			21	78					0	0	0	0	A	108143452	G	A	108143452	3	1	89	1	0	0	0	0	1	0	0	0	1113	1290	45	2	3239	2	ATM	11	108143452	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	13412435	108143452	26863064	103	17309											
DSCAML1	57453	broad.mit.edu	37	chr11	117302401	117302401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cactggcttgagtaccggttCcgggtgctgtgggctgactt	4	12	15	10	2	0	2	0	2	0	0	1	2	1	2	2	4	2	5	2	4	1	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:117302401C>T	ENST00000321322.6	-	31	5404	c.5403G>A	c.(5401-5403)cgG>cgA	p.R1801R	DSCAML1_ENST00000527706.1_Silent_p.R1531R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1741					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGTACCGGTTCCGGGTGCTGT	0.612													48	130					0	0	0	0	T	117302401	C	T	117302401	2	4	89	1	0	0	0	0	0	0	0	1	4805	842	30	2		2	DSCAML1	11	117302401	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	9158949	117302401	17704115	104	17310											
KCNA1	3736	broad.mit.edu	37	chr12	5021875	5021875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacagtgacctcagtcgccGcagttcctctactatgagca	9	10	9	13	2	2	3	1	3	1	0	4	3	3	3	3	0	2	3	3	0	2	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:5021875G>A	ENST00000382545.3	+	2	2438	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	444					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.R444H(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCAGTCGCCGCAGTTCCTCT	0.468													80	320					0	0	0	0	A	5021875	G	A	5021875	3	1	89	1	0	0	0	0	1	0	0	0	8054	1087	38	1	1333	1	KCNA1	12	5021875	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08		5021875	128830020	105	17311											
VWF	7450	broad.mit.edu	37	chr12	6173440	6173440	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggggagctggacgtcctgGccatccatggcaactcctgc	7	7	14	13	1	0	0	0	0	0	0	3	2	3	2	4	5	3	2	4	5	1	0			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:6173440G>A	ENST00000261405.5	-	12	1658	c.1404C>T	c.(1402-1404)ggC>ggT	p.G468G		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	468	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGACGTCCTGGCCATCCATGG	0.632													17	70					0	0	0	0	A	6173440	G	A	6173440	2	1	89	1	0	0	0	0	0	0	0	1	17342	1190	42	4		4	VWF	12	6173440	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	1151565	6173440	127678455	106	17312											
CD27	939	broad.mit.edu	37	chr12	6554350	6554350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagagctgcccagagaGgcactactgggctcagggaa	11	4	13	13	0	1	2	1	0	0	2	1	4	1	3	3	3	3	3	3	3	3	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:6554350G>A	ENST00000266557.3	+	1	318	c.89G>A	c.(88-90)aGg>aAg	p.R30K	CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233.1	P26842	CD27_HUMAN	CD27 molecule	30					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TGCCCAGAGAGGCACTACTGG	0.637													11	35					0	0	0	0	A	6554350	G	A	6554350	3	1	89	1	0	0	0	0	1	0	0	0	3019	1000	35	4	91	4	CD27	12	6554350	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	380910	6554350	127297545	107	17313											
LEPREL2	10536	broad.mit.edu	37	chr12	6939120	6939120	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacatggctaagtacagacGaatgtcgggagttcggcccc	10	7	14	10	3	0	1	0	0	0	1	2	4	0	3	2	4	1	3	2	4	3	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:6939120G>A	ENST00000251761.8	+	0	629				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						AAGTACAGACGAATGTCGGGA	0.592													40	149					0	0	0	0	A	6939120	G	A	6939120	1	1	89	0	1	0	0	0	0	0	0	0	8784	1058	37	1		1	LEPREL2	12	6939120	RNA	SNP	G	TCGA-CN-5373-01A-01D-1434-08	384770	6939120	126912775	108	17314											
GNB3	2784	broad.mit.edu	37	chr12	6952179	6952179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgagtccagatgcggacgCggcggacgttaaggggacac	10	4	17	10	6	0	1	0	0	0	1	1	6	1	4	1	5	1	1	1	5	1	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:6952179C>T	ENST00000229264.3	+	5	547	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	GNB3_ENST00000435982.2_Missense_Mutation_p.R48W	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	48					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GATGCGGACGCGGCGGACGTT	0.597													5	72					0	0	0	0	T	6952179	C	T	6952179	3	4	89	1	0	0	0	0	1	0	0	0	6570	759	27	1	152	1	GNB3	12	6952179	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	13059	6952179	126899716	109	17315											
BICD1	636	broad.mit.edu	37	chr12	32446959	32446959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggagctacagagaatacGgatgaaggatgaaatccgag	15	6	15	5	2	0	3	0	2	0	1	1	8	1	6	1	4	3	1	1	4	5	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:32446959G>A	ENST00000548411.1	+	3	639	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	BICD1_ENST00000281474.5_Missense_Mutation_p.R153Q	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	153					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CAGAGAATACGGATGAAGGAT	0.388													3	56					0	0	0	0	A	32446959	G	A	32446959	3	1	89	1	0	0	0	0	1	0	0	0	1433	1116	39	1	468	1	BICD1	12	32446959	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	25494780	32446959	101404936	110	17316											
KRT5	3852	broad.mit.edu	37	chr12	52913851	52913852	+	Frame_Shift_Ins	INS	-	-	ATCAA																															gaagctgccaccactagtgcINStgatggatatcctcttggag																										TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:52913851_52913852insATCAA	ENST00000252242.4	-	1	619_620	c.229_230insTTGAT	c.(229-231)cacfs	p.H77fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	77	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCACTAGTGCTGATGGATATC	0.614													28	166	---	---	---	---					ATCAA	52913852	-	ATCAA	52913851	7	5	89	1	0	1	1	0	0	0	0	0	8531	797	28	0	1578	0	KRT5	12	52913851	Frame_Shift_Ins	INS	-	TCGA-CN-5373-01A-01D-1434-08	20466892	52913851	80938044	111	17317											
KRT5	3852	broad.mit.edu	37	chr12	52913991	52913992	+	Frame_Shift_Ins	INS	-	-	GT																															gggacacggaggtgaagctgINSgtgcgggagacagacggggt																										TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:52913991_52913992insGT	ENST00000252242.4	-	1	479_480	c.89_90insAC	c.(88-90)aagfs	p.K30fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	30	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTGAAGCTGGTGCGGGAGAC	0.663													15	68	---	---	---	---					GT	52913992	-	GT	52913991	7	5	89	1	0	1	1	0	0	0	0	0	8531	1335	47	0	1718	0	KRT5	12	52913991	Frame_Shift_Ins	INS	-	TCGA-CN-5373-01A-01D-1434-08	140	52913991	80937904	112	17318											
RAB3IP	117177	broad.mit.edu	37	chr12	70149312	70149312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccaagtgtcatctacCggccacacccttcagcttta	9	10	5	17	1	4	0	3	0	1	0	4	0	4	0	5	1	2	1	5	1	3	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:70149312C>T	ENST00000550536.1	+	2	629	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	RAB3IP_ENST00000483530.2_Missense_Mutation_p.R42W|RAB3IP_ENST00000378815.6_Missense_Mutation_p.R42W|RAB3IP_ENST00000362025.5_Missense_Mutation_p.R58W|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000247833.7_Missense_Mutation_p.R42W	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	58					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TGTCATCTACCGGCCACACCC	0.468													31	106					0	0	0	0	T	70149312	C	T	70149312	3	4	89	1	0	0	0	0	1	0	0	0	13020	643	23	1	178	1	RAB3IP	12	70149312	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	17235321	70149312	63702583	113	17319											
SYT1	6857	broad.mit.edu	37	chr12	79611355	79611355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcctgtcaccactgtcgCgactgttctgccaagcaacg	7	8	9	17	4	2	0	1	0	1	0	3	1	2	0	4	0	3	2	4	0	2	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:79611355C>T	ENST00000261205.4	+	4	713	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SYT1_ENST00000457153.2_Missense_Mutation_p.A19V|SYT1_ENST00000393240.3_Missense_Mutation_p.A19V|SYT1_ENST00000552744.1_Missense_Mutation_p.A19V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	19					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACCACTGTCGCGACTGTTCTG	0.527													17	53					0	0	0	0	T	79611355	C	T	79611355	3	4	89	1	0	0	0	0	1	0	0	0	15556	768	27	1	58	1	SYT1	12	79611355	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	9462043	79611355	54240540	114	17320											
PPFIA2	8499	broad.mit.edu	37	chr12	81657105	81657105	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcatcatgctgattccaTgtacttcacgaggaggaaac	12	9	10	10	1	2	1	2	1	0	0	3	4	3	3	1	3	3	3	1	3	2	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:81657105T>C	ENST00000550584.2	-	30	3915	c.3620A>G	c.(3619-3621)cAt>cGt	p.H1207R	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.H1201R|PPFIA2_ENST00000541017.1_Missense_Mutation_p.H393R|PPFIA2_ENST00000552948.1_Missense_Mutation_p.H1186R|PPFIA2_ENST00000407050.4_Missense_Mutation_p.H1106R|PPFIA2_ENST00000443686.3_Missense_Mutation_p.H1102R|PPFIA2_ENST00000541570.2_Missense_Mutation_p.H743R|PPFIA2_ENST00000550359.2_Missense_Mutation_p.H1054R|PPFIA2_ENST00000333447.7_Missense_Mutation_p.H1195R|PPFIA2_ENST00000549325.1_Missense_Mutation_p.H1192R|PPFIA2_ENST00000549396.1_Missense_Mutation_p.H1207R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1106										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCTGATTCCATGTACTTCACG	0.443													33	56					0	0	0	0	C	81657105	T	C	81657105	3	2	89	1	0	0	0	0	1	0	0	0	12381	1464	51	5	161	5	PPFIA2	12	81657105	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08	2045750	81657105	52194790	115	17321											
EP400	57634	broad.mit.edu	37	chr12	132546772	132546772	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcaacgactcagggtgttCgagcggtcacttctgtgaca	8	10	13	10	3	3	1	2	1	1	0	4	3	3	1	0	3	2	2	0	3	1	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:132546772C>T	ENST00000333577.4	+	47	8219	c.8110C>T	c.(8110-8112)Cga>Tga	p.R2704*	EP400_ENST00000330386.6_Nonsense_Mutation_p.R2587*|EP400_ENST00000332482.4_Nonsense_Mutation_p.R2631*|EP400_ENST00000389562.2_Nonsense_Mutation_p.R2667*|EP400_ENST00000389561.2_Nonsense_Mutation_p.R2668*			Q96L91	EP400_HUMAN	E1A binding protein p400	2704	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCAGGGTGTTCGAGCGGTCAC	0.667													28	109					0	0	0	0	T	132546772	C	T	132546772	4	4	89	1	0	0	0	0	0	1	0	0	5187	876	31	1	8177	1	EP400	12	132546772	Nonsense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	50889667	132546772	1305123	116	17322											
WASF3	10810	broad.mit.edu	37	chr13	27216530	27216530	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccgctatcatacgccagctGagcagtctgagtaagccatc	10	8	10	13	2	2	2	1	2	1	0	3	2	2	2	3	0	4	4	3	0	3	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr13:27216530G>A	ENST00000361042.4	+	3	348	c.123G>A	c.(121-123)ctG>ctA	p.L41L	WASF3_ENST00000335327.5_Silent_p.L41L|WASF3_ENST00000496788.1_3'UTR			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	41					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TACGCCAGCTGAGCAGTCTGA	0.418													7	217					0	0	0	0	A	27216530	G	A	27216530	2	1	89	1	0	0	0	0	0	0	0	1	17350	1277	45	2		2	WASF3	13	27216530	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08		27216530	87953348	117	17323											
AKAP11	11215	broad.mit.edu	37	chr13	42876708	42876708	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaagctgagaaaatagcaAaagtccgaaattgtatgctt	17	9	9	6	1	0	2	0	1	0	2	1	4	1	2	1	0	3	4	1	0	8	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr13:42876708A>G	ENST00000025301.2	+	8	4001	c.3826A>G	c.(3826-3828)Aaa>Gaa	p.K1276E		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1276					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAAAATAGCAAAAGTCCGAAA	0.373													26	95					0	0	0	0	G	42876708	A	G	42876708	3	3	89	1	0	0	0	0	1	0	0	0	447	15	1	5	3848	5	AKAP11	13	42876708	Missense_Mutation	SNP	A	TCGA-CN-5373-01A-01D-1434-08	15660178	42876708	72293170	118	17324											
AKAP11	11215	broad.mit.edu	37	chr13	42876731	42876731	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccgaaattgtatgcttttCaagcaaaagaagaacagttg	15	11	9	6	1	1	2	1	0	0	2	2	3	2	2	1	0	3	4	1	0	7	5			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr13:42876731C>T	ENST00000025301.2	+	8	4024	c.3849C>T	c.(3847-3849)ttC>ttT	p.F1283F		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1283					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTATGCTTTTCAAGCAAAAGA	0.383													25	94					0	0	0	0	T	42876731	C	T	42876731	2	4	89	1	0	0	0	0	0	0	0	1	447	825	29	2		2	AKAP11	13	42876731	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	23	42876731	72293147	119	17325											
OR4N5	390437	broad.mit.edu	37	chr14	20612693	20612693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccttccaggctttcccaGctgacaaggtagtttctctt	6	13	8	14	0	1	1	0	1	1	0	4	1	3	1	4	2	1	4	4	2	2	5			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:20612693G>T	ENST00000333629.1	+	1	799	c.799G>T	c.(799-801)Gct>Tct	p.A267S		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GGCTTTCCCAGCTGACAAGGT	0.428													106	402					1.98007e-57	2.23748e-57	1	0	T	20612693	G	T	20612693	3	4	89	1	0	0	0	0	1	0	0	0	11150	971	34	4	801	4	OR4N5	14	20612693	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08		20612693	86736847	120	17326											
OXA1L	5018	broad.mit.edu	37	chr14	23235906	23235906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaagcaagtcctcttccggGcaaaatggcgatgggactaa	14	7	11	9	2	1	0	0	0	1	0	3	2	3	1	2	3	1	2	2	3	6	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:23235906G>A	ENST00000285848.5	+	1	176	c.176G>A	c.(175-177)gGc>gAc	p.G59D	OXA1L_ENST00000604262.1_5'UTR	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CCTCTTCCGGGCAAAATGGCG	0.612													5	253					0	0	0	0	A	23235906	G	A	23235906	3	1	89	1	0	0	0	0	1	0	0	0	11399	1203	42	4	178	4	OXA1L	14	23235906	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	2623213	23235906	84113634	121	17327											
FAM179B	23116	broad.mit.edu	37	chr14	45473350	45473350	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcaaatggtcaaaatccaAgtccaggagcttacatcctt	13	10	6	12	0	2	0	2	0	0	0	5	1	5	1	4	2	2	1	4	2	5	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:45473350A>T	ENST00000361462.2	+	4	2608	c.2425A>T	c.(2425-2427)Agt>Tgt	p.S809C	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.S809C|FAM179B_ENST00000382233.2_Missense_Mutation_p.S809C			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	809							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCAAAATCCAAGTCCAGGAGC	0.398													4	89					0	0	0	0	T	45473350	A	T	45473350	3	4	89	1	0	0	0	0	1	0	0	0	5547	72	3	5	2439	5	FAM179B	14	45473350	Missense_Mutation	SNP	A	TCGA-CN-5373-01A-01D-1434-08	22237444	45473350	61876190	122	17328											
TMEM30B	161291	broad.mit.edu	37	chr14	61746909	61746909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagccgacgaccaggtaggcGatgcccaggaaggggttctt	9	6	16	10	3	1	0	0	0	1	0	1	5	1	1	3	5	2	2	3	5	2	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:61746909G>A	ENST00000555868.1	-	1	1649	c.957C>T	c.(955-957)atC>atT	p.I319I	TMEM30B_ENST00000355702.2_Silent_p.I319I|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	319						integral to membrane				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		CCAGGTAGGCGATGCCCAGGA	0.602													10	42					0	0	0	0	A	61746909	G	A	61746909	2	1	89	1	0	0	0	0	0	0	0	1	16248	1048	37	1		1	TMEM30B	14	61746909	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	16273559	61746909	45602631	123	17329											
SYNE2	23224	broad.mit.edu	37	chr14	64464044	64464044	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatcaccacatctgagaatAgaggaggggatccccacagt	13	6	10	12	0	2	2	1	1	1	2	3	5	3	4	4	3	0	0	4	3	2	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:64464044A>G	ENST00000358025.3	+	25	3408	c.3178A>G	c.(3178-3180)Aga>Gga	p.R1060G	SYNE2_ENST00000344113.4_Missense_Mutation_p.R1060G|SYNE2_ENST00000554584.1_Missense_Mutation_p.R1060G|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1060					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATCTGAGAATAGAGGAGGGGA	0.383													6	32					0	0	0	0	G	64464044	A	G	64464044	3	3	89	1	0	0	0	0	1	0	0	0	15537	412	15	5	3272	5	SYNE2	14	64464044	Missense_Mutation	SNP	A	TCGA-CN-5373-01A-01D-1434-08	2717135	64464044	42885496	124	17330											
SNRPN	6638	broad.mit.edu	37	chr15	25222159	25222159	+	Frame_Shift_Del	DEL	G	G	-																															caggccctgtccgaggagttGggggaccatcccagcaggtg																										TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:25222159delG	ENST00000444203.2	+	5	1454	c.415delG	c.(415-417)ggfs	p.G140fs	SNRPN_ENST00000554227.2_Frame_Shift_Del_p.G140fs|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.G136fs|SNRPN_ENST00000577565.1_Frame_Shift_Del_p.G136fs|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.G136fs|SNRPN_ENST00000400100.1_Frame_Shift_Del_p.G136fs|SNRPN_ENST00000346403.6_Frame_Shift_Del_p.G136fs|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.G136fs			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	136					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CCGAGGAGTTGGGGGACCATC	0.557									Prader-Willi syndrome				21	89	---	---	---	---					-	25222159	G	-	25222159	7	5	89	1	0	1	0	1	0	0	0	0	14958	1348	47	0	417	0	SNRPN	15	25222159	Frame_Shift_Del	DEL	G	TCGA-CN-5373-01A-01D-1434-08		25222159	77309233	125	17331											
GABRA5	2558	broad.mit.edu	37	chr15	27193231	27193231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctgaagagaagacttctGaaagcaaaaagacttacaac	18	7	7	9	0	2	5	0	2	2	3	2	6	2	5	1	0	3	1	1	0	7	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:27193231G>A	ENST00000335625.5	+	11	2128	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	GABRA5_ENST00000400081.3_Missense_Mutation_p.E414K|GABRA5_ENST00000355395.5_Missense_Mutation_p.E414K	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	414					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAGACTTCTGAAAGCAAAAA	0.448													7	18					0	0	0	0	A	27193231	G	A	27193231	3	1	89	1	0	0	0	0	1	0	0	0	6212	1291	45	2	1274	2	GABRA5	15	27193231	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	1971072	27193231	75338161	126	17332											
GATM	2628	broad.mit.edu	37	chr15	45658345	45658345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggatctttaaaggagatgaTatgcactctgtagtctggag	11	12	13	5	0	3	2	0	1	3	1	3	5	3	4	0	3	1	2	0	3	4	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:45658345T>C	ENST00000396659.3	-	6	1216	c.877A>G	c.(877-879)Atc>Gtc	p.I293V	GATM_ENST00000558336.1_Missense_Mutation_p.I293V	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	293					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	AAGGAGATGATATGCACTCTG	0.418													34	92					0	0	0	0	C	45658345	T	C	45658345	3	2	89	1	0	0	0	0	1	0	0	0	6312	1406	49	5	410	5	GATM	15	45658345	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08	18465114	45658345	56873047	127	17333											
CLPX	10845	broad.mit.edu	37	chr15	65472462	65472462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttctgtaaaggatctaaGaggagctctttgcagaatct	11	14	10	6	0	4	2	0	0	4	2	4	4	4	4	0	2	2	4	0	2	4	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:65472462G>A	ENST00000300107.3	-	2	348	c.160C>T	c.(160-162)Ctt>Ttt	p.L54F		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	54					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						AAGGATCTAAGAGGAGCTCTT	0.363													32	154					0	0	0	0	A	65472462	G	A	65472462	3	1	89	1	0	0	0	0	1	0	0	0	3586	942	33	2	1793	2	CLPX	15	65472462	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	19814117	65472462	37058930	128	17334											
NMB	4828	broad.mit.edu	37	chr15	85201301	85201301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggctccgggagatcccagCtgagcggggcgacgccggca	6	3	19	13	5	0	2	0	1	0	1	2	4	2	2	3	6	2	3	3	6	0	0			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:85201301C>T	ENST00000394588.3	-	1	493	c.83G>A	c.(82-84)aGc>aAc	p.S28N	NMB_ENST00000360476.3_Missense_Mutation_p.S28N	NM_021077.3|NM_205858.1	NP_066563.2|NP_995580.1	P08949	NMB_HUMAN	neuromedin B	28					cell-cell signaling|neuropeptide signaling pathway	extracellular region|soluble fraction	hormone activity			endometrium(1)	1				all cancers(203;3.5e-06)		GAGATCCCAGCTGAGCGGGGC	0.726													9	17					0	0	0	0	T	85201301	C	T	85201301	3	4	89	1	0	0	0	0	1	0	0	0	10556	797	28	4	398	4	NMB	15	85201301	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	19728839	85201301	17330091	129	17335											
RAB11FIP3	9727	broad.mit.edu	37	chr16	532707	532707	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgccatggaggagcccgaCcatggtgccctgctgctgct	6	7	14	14	2	0	0	0	0	0	0	0	4	0	2	4	3	5	3	4	3	0	0	rs139755055	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:532707C>T	ENST00000262305.4	+	4	1474	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	RAB11FIP3_ENST00000457159.1_Silent_p.D362D|RAB11FIP3_ENST00000450428.1_Silent_p.D66D	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	362					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGGAGCCCGACCATGGTGCCC	0.687													6	16					0	0	0	0	T	532707	C	T	532707	2	4	89	1	0	0	0	0	0	0	0	1	12977	506	18	4		4	RAB11FIP3	16	532707	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08		532707	89822046	130	17336											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1756596	1756596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctggagctgctgcgcgagGacaacgagcagctgctcacc	9	5	14	13	3	1	0	1	0	0	0	1	4	1	2	1	2	8	6	1	2	1	0			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:1756596G>A	ENST00000250894.4	+	1	413	c.256G>A	c.(256-258)Gac>Aac	p.D86N	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.D86N	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	86					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|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						GCTGCGCGAGGACAACGAGCA	0.682													3	13					0	0	0	0	A	1756596	G	A	1756596	3	1	89	1	0	0	0	0	1	0	0	0	9355	1174	41	2	258	2	MAPK8IP3	16	1756596	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	1223889	1756596	88598157	131	17337											
MGRN1	23295	broad.mit.edu	37	chr16	4731639	4731639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctccccggccatcccctCggcccctctttatgaagaaa	7	10	7	17	2	2	2	0	1	2	1	5	2	3	2	7	2	0	0	7	2	3	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:4731639C>T	ENST00000399577.5	+	13	1313	c.1220C>T	c.(1219-1221)tCg>tTg	p.S407L	MGRN1_ENST00000586183.1_Missense_Mutation_p.S385L|MGRN1_ENST00000588994.1_Missense_Mutation_p.S385L|MGRN1_ENST00000262370.7_Missense_Mutation_p.S407L|MGRN1_ENST00000415496.1_Missense_Mutation_p.S386L	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	407					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GCCATCCCCTCGGCCCCTCTT	0.637													6	128					0	0	0	0	T	4731639	C	T	4731639	3	4	89	1	0	0	0	0	1	0	0	0	9628	893	31	1	1273	1	MGRN1	16	4731639	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	2975043	4731639	85623114	132	17338											
C16orf71	146562	broad.mit.edu	37	chr16	4787863	4787863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaacctccctgattccagaCctgtcggaggagctggctga	9	8	11	13	1	0	3	0	2	0	1	3	5	2	5	4	3	2	2	4	3	1	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:4787863C>A	ENST00000299320.5	+	3	670	c.192C>A	c.(190-192)gaC>gaA	p.D64E	C16orf71_ENST00000590191.1_Missense_Mutation_p.D64E|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	64										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGATTCCAGACCTGTCGGAGG	0.577													29	98					2.36697e-06	2.52328e-06	1	0	A	4787863	C	A	4787863	3	1	89	1	0	0	0	0	1	0	0	0	1843	506	18	4	198	4	C16orf71	16	4787863	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	56224	4787863	85566890	133	17339											
C16orf72	29035	broad.mit.edu	37	chr16	9210684	9210684	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggcactccacttggacaAtggtggaactagaaagcgta	14	8	11	8	1	0	1	0	0	0	1	1	3	1	3	1	4	2	2	1	4	6	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:9210684A>G	ENST00000327827.7	+	4	1140	c.743A>G	c.(742-744)aAt>aGt	p.N248S		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	248										endometrium(4)|large_intestine(2)|lung(2)	8						CACTTGGACAATGGTGGAACT	0.438													41	139					0	0	0	0	G	9210684	A	G	9210684	3	3	89	1	0	0	0	0	1	0	0	0	1844	101	4	5	757	5	C16orf72	16	9210684	Missense_Mutation	SNP	A	TCGA-CN-5373-01A-01D-1434-08	4422821	9210684	81144069	134	17340											
ZNF319	57567	broad.mit.edu	37	chr16	58031444	58031444	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggtgcaccaggtgcgaCgactggctgaagcttttgtc	6	12	14	9	2	0	1	0	1	0	0	1	3	0	1	1	3	3	3	1	3	1	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:58031444C>T	ENST00000299237.2	-	2	1348	c.726G>A	c.(724-726)tcG>tcA	p.S242S		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CCAGGTGCGACGACTGGCTGA	0.617													43	155					0	0	0	0	T	58031444	C	T	58031444	2	4	89	1	0	0	0	0	0	0	0	1	17932	523	19	1		1	ZNF319	16	58031444	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	48820760	58031444	32323309	135	17341											
TP53	7157	broad.mit.edu	37	chr17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgggcctccggttcatgCcgcccatgcaggaactgtta	7	9	13	12	2	1	0	1	0	0	0	2	2	2	2	4	4	3	3	4	4	2	2	rs121912656		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:7577547C>A	ENST00000420246.2	-	7	866	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000269305.4_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTTCATGCCGCCCATGCA	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	42					1.22384e-17	1.34265e-17	1	0	A	7577547	C	A	7577547	3	1	89	1	0	0	0	0	1	0	0	0	16476	739	26	4	556	4	TP53	17	7577547	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08		7577547	73617663	136	17342											
CHD3	1107	broad.mit.edu	37	chr17	7810280	7810280	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctcctccagagcctccTctcctaccaaaacgtctccc	8	8	5	20	2	2	1	0	0	2	1	7	1	5	1	7	0	4	1	7	0	3	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:7810280T>C	ENST00000380358.4	+	30	4775	c.4774T>C	c.(4774-4776)Tct>Cct	p.S1592P	CHD3_ENST00000330494.7_Missense_Mutation_p.S1533P|CHD3_ENST00000358181.4_Missense_Mutation_p.S1533P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1533	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGAGCCTCCTCTCCTACCAA	0.562													61	260					0	0	0	0	C	7810280	T	C	7810280	3	2	89	1	0	0	0	0	1	0	0	0	3355	1551	54	5	4996	5	CHD3	17	7810280	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08	232733	7810280	73384930	137	17343											
PFAS	5198	broad.mit.edu	37	chr17	8167250	8167250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccatcactggagaccGgagagtgagttggcccaggg	9	5	17	10	1	1	3	1	1	0	2	1	5	1	3	3	5	0	2	3	5	0	1	rs142452570	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:8167250G>A	ENST00000314666.6	+	15	1920	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.R172Q	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	596					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTGGAGACCGGAGAGTGAGT	0.597													39	118					0	0	0	0	A	8167250	G	A	8167250	3	1	89	1	0	0	0	0	1	0	0	0	11826	1116	39	1	1841	1	PFAS	17	8167250	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	356970	8167250	73027960	138	17344											
MYH13	8735	broad.mit.edu	37	chr17	10222179	10222179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagctcgctcttctccttCtccagcttctgcttcacccg	3	15	5	18	2	6	0	2	0	4	0	9	0	6	0	3	0	3	4	3	0	0	5			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:10222179C>T	ENST00000418404.3	-	26	3829	c.3666G>A	c.(3664-3666)gaG>gaA	p.E1222E	MYH13_ENST00000252172.4_Silent_p.E1222E|MYH13_ENST00000570743.1_Silent_p.E1222E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1222					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTTCTCCTTCTCCAGCTTCT	0.557													27	168					0	0	0	0	T	10222179	C	T	10222179	2	4	89	1	0	0	0	0	0	0	0	1	10102	912	32	2		2	MYH13	17	10222179	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	2054929	10222179	70973031	139	17345											
MYH8	4626	broad.mit.edu	37	chr17	10304723	10304723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctccttggacagttttgCaatggtttcatccaggcctg	6	15	9	11	0	2	0	1	0	1	0	4	1	3	1	3	3	1	3	3	3	1	5			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:10304723C>A	ENST00000403437.2	-	24	3071	c.2977G>T	c.(2977-2979)Gca>Tca	p.A993S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	993					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GACAGTTTTGCAATGGTTTCA	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				62	219					7.41606e-26	8.17575e-26	1	0	A	10304723	C	A	10304723	3	1	89	1	0	0	0	0	1	0	0	0	10111	710	25	4	2904	4	MYH8	17	10304723	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	82544	10304723	70890487	140	17346											
ALKBH5	54890	broad.mit.edu	37	chr17	18110247	18110247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctgctctgaaacccaagCggtcccaccgcaaggcagac	11	4	9	17	2	1	2	0	1	1	1	2	2	2	2	4	2	3	3	4	2	3	0			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:18110247C>T	ENST00000399138.4	+	3	975	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	324						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					GAAACCCAAGCGGTCCCACCG	0.587													75	319					0	0	0	0	T	18110247	C	T	18110247	3	4	89	1	0	0	0	0	1	0	0	0	530	759	27	1	980	1	ALKBH5	17	18110247	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	7805524	18110247	63084963	141	17347											
KRT36	8689	broad.mit.edu	37	chr17	39643670	39643670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcagctcgatgatctccGtctggcagcactgcagctgc	6	10	11	14	2	3	1	1	1	3	0	6	2	3	1	1	1	5	5	1	1	0	0			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:39643670G>A	ENST00000393986.2	-	6	982	c.770C>T	c.(769-771)aCg>aTg	p.T257M	KRT36_ENST00000328119.6_Missense_Mutation_p.T307M			O76013	KRT36_HUMAN	keratin 36	307	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GATGATCTCCGTCTGGCAGCA	0.612													3	44					0	0	0	0	A	39643670	G	A	39643670	3	1	89	1	0	0	0	0	1	0	0	0	8525	1145	40	1	495	1	KRT36	17	39643670	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	21533423	39643670	41551540	142	17348											
TUBG1	7283	broad.mit.edu	37	chr17	40765019	40765019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcccaaccaggacgagatGagcgatgtggtggtccagcc	9	8	13	11	2	0	2	0	1	0	1	2	5	2	3	4	3	3	0	4	3	1	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:40765019G>A	ENST00000251413.3	+	6	596	c.534G>A	c.(532-534)atG>atA	p.M178I		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	178					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		AGGACGAGATGAGCGATGTGG	0.542													53	138					0	0	0	0	A	40765019	G	A	40765019	3	1	89	1	0	0	0	0	1	0	0	0	16860	1290	45	2	556	2	TUBG1	17	40765019	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	1121349	40765019	40430191	143	17349											
AOC2	314	broad.mit.edu	37	chr17	40996984	40996984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacctggacagggggagccCcccacctgcccgggaggcac	7	2	14	18	1	0	0	0	0	0	0	0	3	0	3	7	5	2	1	7	5	0	0			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:40996984C>T	ENST00000253799.3	+	1	368	c.341C>T	c.(340-342)cCc>cTc	p.P114L	AOC2_ENST00000452774.2_Missense_Mutation_p.P114L	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	114					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGGGGAGCCCCCCACCTGCC	0.677													29	86					0	0	0	0	T	40996984	C	T	40996984	3	4	89	1	0	0	0	0	1	0	0	0	728	623	22	4	343	4	AOC2	17	40996984	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	231965	40996984	40198226	144	17350											
WNT9B	7484	broad.mit.edu	37	chr17	44949908	44949908	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggcgggaagtcctgacgCccttcccaggattgggcact	6	7	14	14	3	0	1	0	1	0	0	2	3	2	3	4	4	0	1	4	4	1	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:44949908C>G	ENST00000393461.2	+	2	156	c.103C>G	c.(103-105)Ccc>Gcc	p.P35A	WNT9B_ENST00000290015.2_Missense_Mutation_p.P35A			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	35					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGTCCTGACGCCCTTCCCAGG	0.667													51	202					0	0	0	0	G	44949908	C	G	44949908	3	3	89	1	0	0	0	0	1	0	0	0	17495	739	26	4	109	4	WNT9B	17	44949908	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	3952924	44949908	36245302	145	17351											
C17orf67	339210	broad.mit.edu	37	chr17	54872507	54872507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaactgctcctcagcgCgatgctccagggcgagcagg	8	5	14	14	3	1	0	1	0	0	0	3	3	3	1	3	3	5	3	3	3	1	0			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:54872507C>T	ENST00000397861.2	-	7	1470	c.191G>A	c.(190-192)cGc>cAc	p.R64H	C17orf67_ENST00000397862.2_Missense_Mutation_p.R88H|C17orf67_ENST00000575658.1_Missense_Mutation_p.R88H			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	88						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					CTCCTCAGCGCGATGCTCCAG	0.547													13	49					0	0	0	0	T	54872507	C	T	54872507	3	4	89	1	0	0	0	0	1	0	0	0	1890	768	27	1	85	1	C17orf67	17	54872507	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	9922599	54872507	26322703	146	17352											
EPX	8288	broad.mit.edu	37	chr17	56274611	56274611	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcggcgcgcatcccctgcttCctggcaggtcagacagggag	6	7	14	14	3	1	1	1	0	0	1	4	2	3	2	3	4	1	3	3	4	0	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:56274611C>T	ENST00000225371.5	+	7	1223	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	371					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCCCCTGCTTCCTGGCAGGTC	0.617													28	75					0	0	0	0	T	56274611	C	T	56274611	2	4	89	1	0	0	0	0	0	0	0	1	5238	854	30	2		2	EPX	17	56274611	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	1402104	56274611	24920599	147	17353											
GH2	2689	broad.mit.edu	37	chr17	61957832	61957832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgtgtcaaacttgctgtagGactgattgaagatctgccca	10	13	10	8	0	2	3	1	2	1	1	2	4	2	4	1	1	3	2	1	1	3	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:61957832G>A	ENST00000423893.2	-	5	564	c.503C>T	c.(502-504)tCc>tTc	p.S168F	GH2_ENST00000332800.7_Silent_p.V252V|GH2_ENST00000456543.2_Missense_Mutation_p.P167S|GH2_ENST00000449787.2_Missense_Mutation_p.S153F			P01242	SOM2_HUMAN	growth hormone 2	168						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CTTGCTGTAGGACTGATTGAA	0.542													38	133					0	0	0	0	A	61957832	G	A	61957832	3	1	89	1	0	0	0	0	1	0	0	0	6419	1174	41	2	242	2	GH2	17	61957832	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	5683221	61957832	19237378	148	17354											
SCN4A	6329	broad.mit.edu	37	chr17	62018859	62018859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttctccaggatgatggCgatgtacatgttgaccacga	11	10	12	8	2	1	2	0	2	1	0	2	6	1	3	2	2	1	3	2	2	2	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:62018859C>T	ENST00000578147.1	-	24	4859	c.4783G>A	c.(4783-4785)Gcc>Acc	p.A1595T	SCN4A_ENST00000435607.1_Missense_Mutation_p.A1595T			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1595					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGGATGATGGCGATGTACATG	0.517													22	70					0	0	0	0	T	62018859	C	T	62018859	3	4	89	1	0	0	0	0	1	0	0	0	14007	768	27	1	731	1	SCN4A	17	62018859	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	61027	62018859	19176351	149	17355											
WIPI1	55062	broad.mit.edu	37	chr17	66426234	66426234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgacacctgggtagggaGgtagttggtagcagccataa	10	9	15	7	0	1	1	0	1	1	0	1	2	1	2	2	4	2	5	2	4	4	5			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:66426234G>T	ENST00000262139.5	-	9	867	c.868C>A	c.(868-870)Ctc>Atc	p.L290I	WIPI1_ENST00000546360.1_Missense_Mutation_p.L208I|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	290					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGGGTAGGGAGGTAGTTGGTA	0.527													26	90					3.17567e-06	3.36949e-06	1	0	T	66426234	G	T	66426234	3	4	89	1	0	0	0	0	1	0	0	0	17466	1000	35	4	492	4	WIPI1	17	66426234	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	4407375	66426234	14768976	150	17356											
DSC1	1823	broad.mit.edu	37	chr18	28728468	28728468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatgtgaacttaccggatcgGcaattttcaggcacagtaaa	14	10	9	8	2	1	1	1	1	0	0	2	2	1	2	1	3	2	3	1	3	6	4	rs138689452		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr18:28728468G>A	ENST00000257197.3	-	6	1026	c.765C>T	c.(763-765)tgC>tgT	p.C255C	DSC1_ENST00000257198.5_Silent_p.C255C|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	255	Cadherin 2.				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)			TACCGGATCGGCAATTTTCAG	0.328													5	206					0	0	0	0	A	28728468	G	A	28728468	2	1	89	1	0	0	0	0	0	0	0	1	4801	1195	42	4		4	DSC1	18	28728468	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08		28728468	49348780	151	17357											
PIK3C3	5289	broad.mit.edu	37	chr18	39584503	39584503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttgcgacaggccgatgatGaggtgcattattatttatta	10	14	12	5	2	0	2	0	2	0	0	0	4	0	2	1	3	2	2	1	3	4	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr18:39584503G>A	ENST00000262039.4	+	10	1254	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	PIK3C3_ENST00000398870.3_Missense_Mutation_p.E327K	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	390					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GGCCGATGATGAGGTGCATTA	0.443										TSP Lung(28;0.18)			14	39					0	0	0	0	A	39584503	G	A	39584503	3	1	89	1	0	0	0	0	1	0	0	0	11984	1291	45	2	1206	2	PIK3C3	18	39584503	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	10856035	39584503	38492745	152	17358											
DCC	1630	broad.mit.edu	37	chr18	50923746	50923746	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacacaatgtatgaattctcGgtcatggtaacaaaaaacag	18	9	7	7	1	2	1	1	1	1	0	3	1	2	1	0	2	3	2	0	2	8	3	rs144874430		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr18:50923746G>A	ENST00000442544.2	+	18	3373	c.2757G>A	c.(2755-2757)tcG>tcA	p.S919S	DCC_ENST00000581580.1_Silent_p.S554S|DCC_ENST00000412726.1_Silent_p.S747S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	919	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.S919S(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGAATTCTCGGTCATGGTAA	0.413													3	86					0	0	0	0	A	50923746	G	A	50923746	2	1	89	1	0	0	0	0	0	0	0	1	4314	1103	39	1		1	DCC	18	50923746	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	11339243	50923746	27153502	153	17359											
TXNL1	9352	broad.mit.edu	37	chr18	54291640	54291640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcaattctcactttgtttCgaaaaaacaaaaatgtaggt	16	13	6	6	1	2	0	2	0	1	0	4	2	2	0	0	1	1	2	0	1	7	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr18:54291640C>T	ENST00000217515.6	-	3	452	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	TXNL1_ENST00000540155.1_5'UTR|TXNL1_ENST00000590954.1_Missense_Mutation_p.R83Q	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	83	Thioredoxin.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		CACTTTGTTTCGAAAAAACAA	0.378													60	163					0	0	0	0	T	54291640	C	T	54291640	3	4	89	1	0	0	0	0	1	0	0	0	16900	884	31	1	645	1	TXNL1	18	54291640	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	3367894	54291640	23785608	154	17360											
FCHO1	23149	broad.mit.edu	37	chr19	17888953	17888953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaccctctctagctgtgcaGagagattgcagtcagaggag	10	9	12	10	0	3	3	2	0	1	3	4	5	3	4	1	1	3	3	1	1	1	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:17888953G>A	ENST00000594202.1	+	19	1546	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	FCHO1_ENST00000596951.1_Missense_Mutation_p.E423K|FCHO1_ENST00000539407.1_Missense_Mutation_p.E423K|FCHO1_ENST00000389133.4_Missense_Mutation_p.E423K|FCHO1_ENST00000597512.1_Missense_Mutation_p.E430K|FCHO1_ENST00000600676.1_Missense_Mutation_p.E423K|FCHO1_ENST00000595033.1_Missense_Mutation_p.E373K|FCHO1_ENST00000252771.7_Missense_Mutation_p.E423K|FCHO1_ENST00000596536.1_Missense_Mutation_p.E423K	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	423										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TAGCTGTGCAGAGAGATTGCA	0.537													3	95					0	0	0	0	A	17888953	G	A	17888953	3	1	89	1	0	0	0	0	1	0	0	0	5832	943	33	2	1329	2	FCHO1	19	17888953	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08		17888953	41240030	155	17361											
ZNF506	440515	broad.mit.edu	37	chr19	19905666	19905666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggttttgccacattcgtCacatttgtagggtacatctc	10	14	8	9	1	2	0	1	0	1	0	4	0	2	0	1	2	2	3	1	2	3	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:19905666C>T	ENST00000443905.2	-	4	1177	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N	ZNF506_ENST00000540806.2_Missense_Mutation_p.D344N|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.D312N|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000589657.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CCACATTCGTCACATTTGTAG	0.413													5	174					0	0	0	0	T	19905666	C	T	19905666	3	4	89	1	0	0	0	0	1	0	0	0	18047	826	29	2	308	2	ZNF506	19	19905666	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	2016713	19905666	39223317	156	17362											
ZNF99	7652	broad.mit.edu	37	chr19	22939037	22939037	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccccagtatgaattatcttAtgtttagtaagggctgaaag	12	14	9	6	0	1	2	0	2	1	0	2	2	2	2	2	1	0	4	2	1	7	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:22939037A>T	ENST00000397104.3	-	8	3083	c.3084T>A	c.(3082-3084)caT>caA	p.H1028Q						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GAATTATCTTATGTTTAGTAA	0.333													52	135					0	0	0	0	T	22939037	A	T	22939037	3	4	89	1	0	0	0	0	1	0	0	0	18297	446	16	5	31	5	ZNF99	19	22939037	Missense_Mutation	SNP	A	TCGA-CN-5373-01A-01D-1434-08	3033371	22939037	36189946	157	17363											
DYRK1B	9149	broad.mit.edu	37	chr19	40319149	40319149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgttgcgcaggaggtCgtacaggttgtaggacagca	8	9	18	6	2	0	0	0	0	0	0	1	2	0	2	0	5	3	6	0	5	2	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:40319149C>A	ENST00000593685.1	-	6	1063	c.595G>T	c.(595-597)Gac>Tac	p.D199Y	DYRK1B_ENST00000597639.1_Missense_Mutation_p.D199Y|DYRK1B_ENST00000323039.5_Missense_Mutation_p.D199Y|DYRK1B_ENST00000430012.2_Missense_Mutation_p.D199Y|DYRK1B_ENST00000348817.3_Missense_Mutation_p.D199Y			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	199	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CGCAGGAGGTCGTACAGGTTG	0.622													6	10					0.00116845	0.00121691	1	0	A	40319149	C	A	40319149	3	1	89	1	0	0	0	0	1	0	0	0	4891	884	31	3	1318	3	DYRK1B	19	40319149	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	17380112	40319149	18809834	158	17364											
DHX34	9704	broad.mit.edu	37	chr19	47856739	47856739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagcaggcatttgggcGtctggccaagctgcagcgtg	8	7	15	11	2	1	1	0	0	1	1	1	1	1	1	2	3	4	4	2	3	2	1	rs149967464	by1000genomes	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:47856739G>A	ENST00000328771.4	+	2	801	c.452G>A	c.(451-453)cGt>cAt	p.R151H		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	151						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCATTTGGGCGTCTGGCCAAG	0.647													35	65					0	0	0	0	A	47856739	G	A	47856739	3	1	89	1	0	0	0	0	1	0	0	0	4544	1145	40	1	454	1	DHX34	19	47856739	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	7537590	47856739	11272244	159	17365											
RASIP1	54922	broad.mit.edu	37	chr19	49238477	49238477	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcctggtagccctggagCagcaggaagtaggggcggtt	7	7	18	9	2	0	0	0	0	0	0	1	2	1	2	2	6	3	5	2	6	3	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:49238477C>T	ENST00000222145.4	-	4	1359	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	385					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGCCCTGGAGCAGCAGGAAGT	0.637													7	30					0	0	0	0	T	49238477	C	T	49238477	2	4	89	1	0	0	0	0	0	0	0	1	13160	697	25	4		4	RASIP1	19	49238477	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	1381738	49238477	9890506	160	17366											
ZNF808	388558	broad.mit.edu	37	chr19	53057763	53057763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgtataccatcgtagaCttcacactctagagaaatct	12	12	5	12	1	3	2	1	0	2	2	4	3	3	2	2	0	1	2	2	0	5	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:53057763C>G	ENST00000359798.4	+	5	1774	c.1594C>G	c.(1594-1596)Ctt>Gtt	p.L532V		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCATCGTAGACTTCACACTCT	0.413													59	251					0	0	0	0	G	53057763	C	G	53057763	3	3	89	1	0	0	0	0	1	0	0	0	18266	565	20	4	1604	4	ZNF808	19	53057763	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	3819286	53057763	6071220	161	17367											
ZNF579	163033	broad.mit.edu	37	chr19	56089543	56089543	+	Frame_Shift_Del	DEL	G	G	-																															gctcggccttcaggggcggcGggggcggtggcggcgacgtc																										TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:56089543delG	ENST00000325421.4	-	2	1491	c.1463delC	c.(1462-1464)cgfs	p.P490fs		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	490	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CAGGggcggcgggggcggtgg	0.746													2	4	---	---	---	---					-	56089543	G	-	56089543	7	5	89	1	0	1	0	1	0	0	0	0	18106	1116	39	0	229	0	ZNF579	19	56089543	Frame_Shift_Del	DEL	G	TCGA-CN-5373-01A-01D-1434-08	3031780	56089543	3039440	162	17368											
ZNF134	7693	broad.mit.edu	37	chr19	58132398	58132398	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagacacaaatctacacttgTtcagcatgagagtattcaca	15	10	6	10	0	3	2	2	1	1	2	3	3	3	2	0	0	2	3	0	0	3	5			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:58132398T>A	ENST00000396161.5	+	3	1221	c.911T>A	c.(910-912)gTt>gAt	p.V304D		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	304						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TCTACACTTGTTCAGCATGAG	0.408													57	211					0	0	0	0	A	58132398	T	A	58132398	3	1	89	1	0	0	0	0	1	0	0	0	17819	1725	60	5	917	5	ZNF134	19	58132398	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08	2042855	58132398	996585	163	17369											
C19orf18	147685	broad.mit.edu	37	chr19	58472909	58472909	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgtctttcctcagcctGtgccagtcgactggagaatg	6	13	11	11	1	2	1	1	0	1	1	4	3	3	1	3	1	2	1	3	1	1	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:58472909G>A	ENST00000314391.3	-	5	483	c.382C>T	c.(382-384)Cag>Tag	p.Q128*		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	128						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TCCTCAGCCTGTGCCAGTCGA	0.428													50	147					0	0	0	0	A	58472909	G	A	58472909	4	1	89	1	0	0	0	0	0	1	0	0	1928	1386	48	4	273	4	C19orf18	19	58472909	Nonsense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	340511	58472909	656074	164	17370											
PYGB	5834	broad.mit.edu	37	chr20	25239913	25239913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattctacatgggtcgcaCgctgcagaacacgatggtga	11	8	13	9	3	1	2	0	1	1	1	2	4	1	3	0	3	3	3	0	3	3	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:25239913C>T	ENST00000216962.4	+	2	394	c.284C>T	c.(283-285)aCg>aTg	p.T95M		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	95					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	ATGGGTCGCACGCTGCAGAAC	0.498													31	102					0	0	0	0	T	25239913	C	T	25239913	3	4	89	1	0	0	0	0	1	0	0	0	12942	536	19	1	290	1	PYGB	20	25239913	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08		25239913	37785607	165	17371											
PLCG1	5335	broad.mit.edu	37	chr20	39792085	39792085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctccgagaccccttacGagagatcgaggagccatact	10	8	9	14	3	0	2	0	0	0	2	3	7	2	3	5	1	3	0	5	1	2	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:39792085G>T	ENST00000373272.2	+	9	1262	c.857G>T	c.(856-858)cGa>cTa	p.R286L	PLCG1_ENST00000373271.1_Missense_Mutation_p.R286L|PLCG1_ENST00000244007.3_Missense_Mutation_p.R286L	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	286					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GACCCCTTACGAGAGATCGAG	0.567													17	61					4.35082e-09	4.68231e-09	1	0	T	39792085	G	T	39792085	3	4	89	1	0	0	0	0	1	0	0	0	12107	1058	37	3	891	3	PLCG1	20	39792085	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	14552172	39792085	23233435	166	17372											
SERINC3	10955	broad.mit.edu	37	chr20	43133498	43133498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagtgtagagggtgatgaggGaggactgcaagaggccggag	11	6	20	4	1	0	4	0	2	0	2	0	7	0	7	1	5	1	2	1	5	3	2	rs149223322		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:43133498G>A	ENST00000342374.4	-	7	975	c.818C>T	c.(817-819)tCc>tTc	p.S273F	SERINC3_ENST00000255175.1_Missense_Mutation_p.S273F|SERINC3_ENST00000541235.1_Missense_Mutation_p.S218F	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	273						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GGTGATGAGGGAGGACTGCAA	0.478													14	57					0	0	0	0	A	43133498	G	A	43133498	3	1	89	1	0	0	0	0	1	0	0	0	14168	1174	41	2	619	2	SERINC3	20	43133498	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	3341413	43133498	19892022	167	17373											
YWHAB	7529	broad.mit.edu	37	chr20	43530177	43530177	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctcttgttctagggaatGacaatggataaaagtgagct	12	13	11	5	0	2	2	0	2	2	0	2	4	2	4	0	2	2	3	0	2	5	5			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:43530177G>A	ENST00000372839.3	+	3	277	c.3G>A	c.(1-3)atG>atA	p.M1I	YWHAB_ENST00000353703.4_Start_Codon_SNP_p.M1I|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	1					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TCTAGGGAATGACAATGGATA	0.473													20	91					0	0	0	0	A	43530177	G	A	43530177	1	1	89	1	0	0	0	0	0	0	0	0	17597	1290	45	2		2	YWHAB	20	43530177	Translation_Start_Site	SNP	G	TCGA-CN-5373-01A-01D-1434-08	396679	43530177	19495343	168	17374											
NFATC2	4773	broad.mit.edu	37	chr20	50139752	50139752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggccgggtagatgtggCgaggcaggccggccttggat	6	6	18	11	4	0	1	0	0	0	1	0	3	0	2	4	7	0	2	4	7	1	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:50139752C>T	ENST00000371564.3	-	2	1247	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	NFATC2_ENST00000396009.3_Missense_Mutation_p.R343H|NFATC2_ENST00000414705.1_Missense_Mutation_p.R323H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	343					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTAGATGTGGCGAGGCAGGCC	0.682													6	149					0	0	0	0	T	50139752	C	T	50139752	3	4	89	1	0	0	0	0	1	0	0	0	10432	768	27	1	1833	1	NFATC2	20	50139752	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	6609575	50139752	12885768	169	17375											
TPTE	7179	broad.mit.edu	37	chr21	10934945	10934945	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatgtacatactgcatagaTtgtagactcgatagtggttt	12	15	9	5	1	0	2	0	0	0	2	1	3	0	2	0	1	3	4	0	1	6	8			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr21:10934945T>A	ENST00000298232.7	-	14	1161	c.794A>T	c.(793-795)aAt>aTt	p.N265I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.N245I|TPTE_ENST00000361285.4_Missense_Mutation_p.N283I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	283	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTGCATAGATTGTAGACTCG	0.328													15	237					0	0	0	0	A	10934945	T	A	10934945	3	1	89	1	0	0	0	0	1	0	0	0	16525	1493	52	5	847	5	TPTE	21	10934945	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08		10934945	37194950	170	17376											
BACH1	571	broad.mit.edu	37	chr21	30693761	30693761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcaccggtccgtgctggcgGcatgcagcagttacttccac	6	9	11	15	3	1	0	1	0	0	0	3	0	3	0	3	3	4	5	3	3	1	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr21:30693761G>A	ENST00000399921.1	+	2	403	c.160G>A	c.(160-162)Gca>Aca	p.A54T	BACH1_ENST00000286800.3_Missense_Mutation_p.A54T	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	54	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CGTGCTGGCGGCATGCAGCAG	0.517													4	150					0	0	0	0	A	30693761	G	A	30693761	3	1	89	1	0	0	0	0	1	0	0	0	1287	1203	42	4	162	4	BACH1	21	30693761	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	19758816	30693761	17436134	171	17377											
NDUFV3	4731	broad.mit.edu	37	chr21	44323643	44323643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgacgtttcagaggtcaCtcctcgagtggtgagcaaag	9	9	14	9	2	2	3	2	2	0	1	4	4	3	3	1	3	1	3	1	3	1	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr21:44323643C>T	ENST00000354250.2	+	3	590	c.521C>T	c.(520-522)aCt>aTt	p.T174I	NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	TCAGAGGTCACTCCTCGAGTG	0.532													65	181					0	0	0	0	T	44323643	C	T	44323643	3	4	89	1	0	0	0	0	1	0	0	0	10371	565	20	4	531	4	NDUFV3	21	44323643	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	13629882	44323643	3806252	172	17378											
SERPIND1	3053	broad.mit.edu	37	chr22	21133858	21133858	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggacctggagaagatattCagtgaagacgacgactacat	14	8	11	8	2	1	4	1	1	0	3	1	8	1	5	1	2	1	0	1	2	4	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr22:21133858C>T	ENST00000215727.5	+	2	541	c.258C>T	c.(256-258)ttC>ttT	p.F86F	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.F86F|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	86	2 X 11 AA approximate repeats, Asp/Glu- rich (acidic) (hirudin-like).				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)	AGAAGATATTCAGTGAAGACG	0.527													29	76					0	0	0	0	T	21133858	C	T	21133858	2	4	89	1	0	0	0	0	0	0	0	1	14197	825	29	2		2	SERPIND1	22	21133858	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08		21133858	30170708	173	17379											
TBL1X	6907	broad.mit.edu	37	chrX	9673050	9673050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagcccctgcccttgatgtgGactggcagaacaacacgacc	10	6	10	15	1	0	2	0	1	0	1	0	4	0	3	4	2	4	1	4	2	2	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:9673050G>A	ENST00000217964.7	+	13	1772	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N	TBL1X_ENST00000380961.1_Missense_Mutation_p.D327N|TBL1X_ENST00000536365.1_Missense_Mutation_p.D327N|TBL1X_ENST00000407597.2_Missense_Mutation_p.D378N|TBL1X_ENST00000424279.1_Missense_Mutation_p.D327N	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	378					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CCTTGATGTGGACTGGCAGAA	0.527													47	152					0	0	0	0	A	9673050	G	A	9673050	3	1	89	1	0	0	0	0	1	0	0	0	15733	1174	41	2	1170	2	TBL1X	23	9673050	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08		9673050	145597510	174	17380											
MAGEB16	139604	broad.mit.edu	37	chrX	35821252	35821252	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcagtatgcggaagctctGaaagaggaagaagagagagc	15	6	14	6	1	2	5	1	1	2	4	3	8	2	7	0	2	3	2	0	2	5	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:35821252G>C	ENST00000399989.1	+	2	1218	c.939G>C	c.(937-939)ctG>ctC	p.L313L	MAGEB16_ENST00000399985.1_Silent_p.L313L|MAGEB16_ENST00000399992.1_Silent_p.L345L|MAGEB16_ENST00000399987.1_Silent_p.L313L|MAGEB16_ENST00000399988.1_Silent_p.L313L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	313										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CGGAAGCTCTGAAAGAGGAAG	0.493													7	27					0	0	0	0	C	35821252	G	C	35821252	2	2	89	1	0	0	0	0	0	0	0	1	9243	1277	45	2		2	MAGEB16	23	35821252	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	26148202	35821252	119449308	175	17381											
ZNF41	7592	broad.mit.edu	37	chrX	47308010	47308010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagaagccttttccacattCactgcattcataaggttttt	10	15	7	9	0	2	1	2	0	0	1	3	2	3	1	2	2	2	2	2	2	2	7			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:47308010C>G	ENST00000377065.4	-	5	1798	c.1159G>C	c.(1159-1161)Gaa>Caa	p.E387Q	ZNF41_ENST00000313116.7_Missense_Mutation_p.E387Q|ZNF41_ENST00000397050.2_Missense_Mutation_p.E397Q	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	429						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTTCCACATTCACTGCATTCA	0.408													35	147					0	0	0	0	G	47308010	C	G	47308010	3	3	89	1	0	0	0	0	1	0	0	0	17984	835	29	2	1184	2	ZNF41	23	47308010	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	11486758	47308010	107962550	176	17382											
FGD1	2245	broad.mit.edu	37	chrX	54492271	54492271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaggatgtctccaatgCgtggatagcggtccctgggg	6	10	15	10	2	2	0	0	0	2	0	4	2	3	2	2	5	3	1	2	5	2	1			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:54492271C>T	ENST00000375135.3	-	7	2088	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	452	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTCTCCAATGCGTGGATAGCG	0.557													16	82					0	0	0	0	T	54492271	C	T	54492271	3	4	89	1	0	0	0	0	1	0	0	0	5877	768	27	1	1578	1	FGD1	23	54492271	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	7184261	54492271	100778289	177	17383											
ACRC	93953	broad.mit.edu	37	chrX	70830641	70830641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggcgctttgccaagatccaGattggcttgaaagtctgcga	9	10	12	10	3	1	3	0	1	1	2	2	4	2	3	2	2	2	2	2	2	2	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:70830641G>A	ENST00000373695.1	+	10	2259	c.1722G>A	c.(1720-1722)caG>caA	p.Q574Q	ACRC_ENST00000373696.3_Silent_p.Q574Q|ACRC_ENST00000471950.1_3'UTR			Q96QF7	ACRC_HUMAN	acidic repeat containing	574						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCAAGATCCAGATTGGCTTGA	0.507													8	33					0	0	0	0	A	70830641	G	A	70830641	2	1	89	1	0	0	0	0	0	0	0	1	171	933	33	2		2	ACRC	23	70830641	Silent	SNP	G	TCGA-CN-5373-01A-01D-1434-08	16338370	70830641	84439919	178	17384											
KIAA2022	340533	broad.mit.edu	37	chrX	73963606	73963606	+	Missense_Mutation	SNP	C	C	G																															ttactttcactaataaaagtCtcgaagtaaccccaatcctg																										TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:73963606C>G	ENST00000373468.1	-	3	1437	c.786G>C	c.(784-786)gaG>gaC	p.E262D	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E262D			Q5QGS0	K2022_HUMAN	KIAA2022	262					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.E262D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAATAAAAGTCTCGAAGTAAC	0.388													10	304					0	0	0	0	G	73963606	C	G	73963606	3	3	89	1	0	0	0	0	1	0	0	0	8320	912	32	2	3772	2	KIAA2022	23	73963606	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	3132965	73963606	81306954	179	17385	145	2									
KIAA2022	340533	broad.mit.edu	37	chrX	73963607	73963607	+	Missense_Mutation	SNP	T	T	G																															tactttcactaataaaagtcTcgaagtaaccccaatcctga																										TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:73963607T>G	ENST00000373468.1	-	3	1436	c.785A>C	c.(784-786)gAg>gCg	p.E262A	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E262A			Q5QGS0	K2022_HUMAN	KIAA2022	262					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AATAAAAGTCTCGAAGTAACC	0.393													10	303					0	0	0	0	G	73963607	T	G	73963607	3	3	89	1	0	0	0	0	1	0	0	0	8320	1551	54	5	3773	5	KIAA2022	23	73963607	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08	1	73963607	81306953	180	17386	145	2									
ATP7A	538	broad.mit.edu	37	chrX	77254135	77254135	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtcactggcatgacttgCgcttcctgtgtagcaaacat	9	11	10	11	1	1	1	1	1	0	0	2	1	2	1	1	2	3	4	1	2	2	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:77254135C>T	ENST00000341514.6	+	5	1652	c.1497C>T	c.(1495-1497)tgC>tgT	p.C499C	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.C499C	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	499	HMA 5.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GCATGACTTGCGCTTCCTGTG	0.408													71	250					0	0	0	0	T	77254135	C	T	77254135	2	4	89	1	0	0	0	0	0	0	0	1	1194	776	27	1		1	ATP7A	23	77254135	Silent	SNP	C	TCGA-CN-5373-01A-01D-1434-08	3290528	77254135	78016425	181	17387											
SH2D1A	4068	broad.mit.edu	37	chrX	123480565	123480565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctgcttgccactgggCtggatggcagctatttgctg	5	12	13	11	0	0	0	0	0	0	0	1	1	1	1	2	3	5	6	2	3	1	3			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:123480565C>A	ENST00000371139.4	+	1	372	c.73C>A	c.(73-75)Ctg>Atg	p.L25M	SH2D1A_ENST00000470647.1_3'UTR|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000360027.4_Missense_Mutation_p.L25M	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	25	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGCCACTGGGCTGGATGGCAG	0.597													19	97					2.4624e-09	2.66269e-09	1	0	A	123480565	C	A	123480565	3	1	89	1	0	0	0	0	1	0	0	0	14317	796	28	4	75	4	SH2D1A	23	123480565	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	46226430	123480565	31789995	182	17388											
CXorf48	54967	broad.mit.edu	37	chrX	134305035	134305035	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgtgggccctgtcGctctgcagggtcggccgtcc	1	10	15	15	3	1	0	0	0	1	0	4	0	2	0	3	3	3	4	3	3	0	0			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:134305035G>A	ENST00000344129.2	-	1	287	c.61C>T	c.(61-63)Cga>Tga	p.R21*	CXorf48_ENST00000276241.6_Nonsense_Mutation_p.R21*	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	21										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GGGCCCTGTCGCTCTGCAGGG	0.642													45	117					0	0	0	0	A	134305035	G	A	134305035	4	1	89	1	0	0	0	0	0	1	0	0	4143	1095	38	1	761	1	CXorf48	23	134305035	Nonsense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	10824470	134305035	20965525	183	17389											
ARHGEF6	9459	broad.mit.edu	37	chrX	135757211	135757211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgctggtgcagtaggcttCgatcactttaaggatttgag	8	13	13	7	2	1	1	1	1	0	0	2	3	1	2	0	3	2	4	0	3	2	5			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:135757211C>T	ENST00000250617.6	-	19	3195	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E510K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E510K|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E537K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	664					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CAGTAGGCTTCGATCACTTTA	0.413													16	76					0	0	0	0	T	135757211	C	T	135757211	3	4	89	1	0	0	0	0	1	0	0	0	912	893	31	1	356	1	ARHGEF6	23	135757211	Missense_Mutation	SNP	C	TCGA-CN-5373-01A-01D-1434-08	1452176	135757211	19513349	184	17390											
MAMLD1	10046	broad.mit.edu	37	chrX	149639448	149639448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctccagcccaggagccacgGagccatttacttttggcaac	9	8	10	14	1	0	0	0	0	0	0	1	2	1	2	4	3	5	2	4	3	2	4			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:149639448G>A	ENST00000370401.2	+	4	1913	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	MAMLD1_ENST00000455522.2_Missense_Mutation_p.E16K|MAMLD1_ENST00000432680.2_Missense_Mutation_p.E510K|MAMLD1_ENST00000262858.5_Missense_Mutation_p.E535K|MAMLD1_ENST00000426613.2_Missense_Mutation_p.E510K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	535					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGCCACGGAGCCATTTAC	0.537													57	164					0	0	0	0	A	149639448	G	A	149639448	3	1	89	1	0	0	0	0	1	0	0	0	9277	1175	41	2	1613	2	MAMLD1	23	149639448	Missense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	13882237	149639448	5631112	185	17391											
PASD1	139135	broad.mit.edu	37	chrX	150844493	150844493	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttctgaggtaggagtcGagggacctcctgatccacag	10	9	13	9	1	1	2	0	2	1	0	4	5	3	4	3	3	0	2	3	3	2	2			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:150844493G>T	ENST00000370357.4	+	16	2445	c.2200G>T	c.(2200-2202)Gag>Tag	p.E734*		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	734						nucleus	signal transducer activity	p.E734*(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGTAGGAGTCGAGGGACCTCC	0.532													56	261					2.78941e-39	3.13635e-39	1	0	T	150844493	G	T	150844493	4	4	89	1	0	0	0	0	0	1	0	0	11542	1059	37	3	2258	3	PASD1	23	150844493	Nonsense_Mutation	SNP	G	TCGA-CN-5373-01A-01D-1434-08	1205045	150844493	4426067	186	17392											
F8	2157	broad.mit.edu	37	chrX	154194878	154194878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcagtaagatcatcatcaTagtcttccgcttcttcatta	12	15	4	10	1	7	1	5	0	2	1	8	1	8	1	1	0	0	2	1	0	4	6			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:154194878T>C	ENST00000360256.4	-	8	1294	c.1094A>G	c.(1093-1095)tAt>tGt	p.Y365C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	365			Y -> C (in HEMA; mild).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.Y365C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCATCATCATAGTCTTCCGC	0.423													40	165					0	0	0	0	C	154194878	T	C	154194878	3	2	89	1	0	0	0	0	1	0	0	0	5388	1406	49	5	6065	5	F8	23	154194878	Missense_Mutation	SNP	T	TCGA-CN-5373-01A-01D-1434-08	3350385	154194878	1075682	187	17393											
FBXO44	93611	broad.mit.edu	37	chr1	11718444	11718444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagaaatacttcgttacttCatattagtaagatccgggga	14	12	8	7	2	1	2	1	0	0	2	3	3	2	3	1	2	2	2	1	2	7	7			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:11718444C>T	ENST00000376770.1	+	4	884	c.386C>T	c.(385-387)tCa>tTa	p.S129L	FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376768.1_Intron|FBXO44_ENST00000251547.5_Missense_Mutation_p.S129L|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376760.1_Intron	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	129	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TTCGTTACTTCATATTAGTAA	0.527													15	135					0	0	0	0	T	11718444	C	T	11718444	3	4	90	1	0	0	0	0	1	0	0	0	5798	838	29	2	392	2	FBXO44	1	11718444	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08		11718444	237532177	1	17394											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887625	12887625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacccatgggccatagcttCagaccaaaccatccagaagt	13	6	8	14	0	1	2	1	0	0	2	2	2	2	2	5	1	2	2	5	1	3	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:12887625C>T	ENST00000535591.1	-	3	427	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	78										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCCATAGCTTCAGACCAAACC	0.473													18	365					0	0	0	0	T	12887625	C	T	12887625	3	4	90	1	0	0	0	0	1	0	0	0	12503	835	29	2	1086	2	PRAMEF11	1	12887625	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	1169181	12887625	236362996	2	17395											
ECE1	1889	broad.mit.edu	37	chr1	21585219	21585219	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttggagttcttggaatcGgcactgacatagacagagaa	12	10	12	7	1	1	3	0	1	1	2	2	6	1	5	0	3	0	3	0	3	3	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:21585219G>C	ENST00000415912.2	-	6	806	c.681C>G	c.(679-681)gcC>gcG	p.A227A	ECE1_ENST00000357071.4_Silent_p.A231A|ECE1_ENST00000264205.6_Silent_p.A240A|ECE1_ENST00000436918.2_Silent_p.A243A|ECE1_ENST00000374893.6_Silent_p.A243A	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	243					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TCTTGGAATCGGCACTGACAT	0.572													8	115					0	0	0	0	C	21585219	G	C	21585219	2	2	90	1	0	0	0	0	0	0	0	1	4925	1103	39	3		3	ECE1	1	21585219	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	8697594	21585219	227665402	3	17396											
TMEM200B	399474	broad.mit.edu	37	chr1	29447769	29447769	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtaccccgacgcggggacGggtcccagatttctggctct	7	8	13	13	4	2	1	0	0	2	1	3	3	3	2	3	4	1	2	3	4	2	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:29447769G>C	ENST00000420504.2	-	2	729	c.572C>G	c.(571-573)cCg>cGg	p.P191R	TMEM200B_ENST00000521452.1_Missense_Mutation_p.P191R	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	191	Pro-rich.					integral to membrane				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		ACGCGGGGACGGGTCCCAGAT	0.692													14	15					0	0	0	0	C	29447769	G	C	29447769	3	2	90	1	0	0	0	0	1	0	0	0	16218	1116	39	3	355	3	TMEM200B	1	29447769	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	7862550	29447769	219802852	4	17397											
ZSCAN20	7579	broad.mit.edu	37	chr1	33957149	33957149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggcacttcccaggctcGggtatagtgacgcagagatg	8	8	14	11	3	0	2	0	1	0	1	2	3	1	2	2	3	0	4	2	3	2	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:33957149G>T	ENST00000361328.3	+	6	1444	c.1291G>T	c.(1291-1293)Ggg>Tgg	p.G431W	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.G377W	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	431					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCCCAGGCTCGGGTATAGTGA	0.597													4	129					0.150653	0.152454	1	0	T	33957149	G	T	33957149	3	4	90	1	0	0	0	0	1	0	0	0	18324	1116	39	3	1309	3	ZSCAN20	1	33957149	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	4509380	33957149	215293472	5	17398											
SPATA6	54558	broad.mit.edu	37	chr1	48918776	48918776	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatagatgtcctctttgtCtttaagcacgactcctgggc	9	13	9	10	1	2	2	0	0	2	2	4	3	4	2	2	1	1	1	2	1	3	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:48918776C>G	ENST00000371847.3	-	2	243	c.79G>C	c.(79-81)Gac>Cac	p.D27H	SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_5'UTR|SPATA6_ENST00000371843.3_Missense_Mutation_p.D27H	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	27					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.D27H(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCCTCTTTGTCTTTAAGCACG	0.388													49	87					0	0	0	0	G	48918776	C	G	48918776	3	3	90	1	0	0	0	0	1	0	0	0	15103	913	32	2	1435	2	SPATA6	1	48918776	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	14961627	48918776	200331845	6	17399											
FUBP1	8880	broad.mit.edu	37	chr1	78428560	78428560	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatttggtggaggatttctCtgaagttctattcttgcacc	7	16	10	8	0	3	1	0	1	3	0	4	3	3	3	1	3	1	3	1	3	2	6			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:78428560C>G	ENST00000370767.1	-	14	1326	c.1239G>C	c.(1237-1239)caG>caC	p.Q413H	FUBP1_ENST00000436586.2_Missense_Mutation_p.Q434H|FUBP1_ENST00000370768.2_Missense_Mutation_p.Q413H			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	413	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GAGGATTTCTCTGAAGTTCTA	0.383			"F, N"		oligodendroglioma								31	242					0	0	0	0	G	78428560	C	G	78428560	3	3	90	1	0	0	0	0	1	0	0	0	6140	912	32	2	723	2	FUBP1	1	78428560	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	29509784	78428560	170822061	7	17400											
AGL	178	broad.mit.edu	37	chr1	100357191	100357191	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttgcaggctatgttcttCtacctgaagcagatcccacg	8	12	10	11	1	2	2	0	1	2	1	3	2	3	2	2	2	3	5	2	2	3	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:100357191C>T	ENST00000294724.4	+	23	3457	c.2979C>T	c.(2977-2979)ttC>ttT	p.F993F	AGL_ENST00000370165.3_Silent_p.F993F|AGL_ENST00000370161.2_Silent_p.F977F|AGL_ENST00000370163.3_Silent_p.F993F|AGL_ENST00000361915.3_Silent_p.F993F|AGL_ENST00000361302.3_Silent_p.F977F|AGL_ENST00000361522.4_Silent_p.F976F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	993					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTATGTTCTTCTACCTGAAGC	0.363													32	205					0	0	0	0	T	100357191	C	T	100357191	2	4	90	1	0	0	0	0	0	0	0	1	384	912	32	2		2	AGL	1	100357191	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	21928631	100357191	148893430	8	17401											
SLC25A24	29957	broad.mit.edu	37	chr1	108735216	108735216	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttatagtccaggtaccAaaagagatctccgtagaggg	12	10	11	8	1	1	2	0	0	1	2	3	3	2	2	3	2	1	3	3	2	6	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:108735216A>G	ENST00000370041.4	-	1	224	c.28T>C	c.(28-30)Tgg>Cgg	p.W10R	SLC25A24_ENST00000565488.1_Intron	NM_213651.2	NP_998816.1	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	29					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.W10R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TCCAGGTACCAAAAGAGATCT	0.567													279	215					0	0	0	0	G	108735216	A	G	108735216	3	3	90	1	0	0	0	0	1	0	0	0	14575	130	5	5	1388	5	SLC25A24	1	108735216	Missense_Mutation	SNP	A	TCGA-CN-5374-01A-01D-1434-08	8378025	108735216	140515405	9	17402											
THBS3	7059	broad.mit.edu	37	chr1	155174872	155174872	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatcctcaaatacgccttCtgtccagtcctaatctccag	9	12	5	15	1	3	0	1	0	2	0	7	0	6	0	5	0	2	1	5	0	3	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:155174872C>T	ENST00000368378.3	-	3	542	c.522G>A	c.(520-522)caG>caA	p.Q174Q	RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000428962.2_Intron	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	174	TSP N-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	p.Q174Q(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AATACGCCTTCTGTCCAGTCC	0.577													21	43					0	0	0	0	T	155174872	C	T	155174872	2	4	90	1	0	0	0	0	0	0	0	1	15949	912	32	2		2	THBS3	1	155174872	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	46439656	155174872	94075749	10	17403											
FCRLA	84824	broad.mit.edu	37	chr1	161677126	161677126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctctgggtggcccagatGctactgggtaagtaaaatat	10	11	13	7	0	1	1	0	0	1	1	1	1	1	1	1	3	3	4	1	3	5	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:161677126G>A	ENST00000540926.1	+	1	365	c.72G>A	c.(70-72)atG>atA	p.M24I	FCRLA_ENST00000367953.3_Missense_Mutation_p.M24I|FCRLA_ENST00000546024.1_Missense_Mutation_p.M41I|FCRLA_ENST00000540521.1_Missense_Mutation_p.M41I|FCRLA_ENST00000236938.6_Missense_Mutation_p.M41I|FCRLA_ENST00000367949.2_Missense_Mutation_p.M41I|FCRLA_ENST00000367950.1_Start_Codon_SNP_p.M1I|FCRLA_ENST00000367957.2_Missense_Mutation_p.M41I|FCRLA_ENST00000367959.2_Missense_Mutation_p.M41I|FCRLA_ENST00000350710.3_Missense_Mutation_p.M41I|FCRLA_ENST00000349527.4_Missense_Mutation_p.M24I|FCRLA_ENST00000309691.6_Missense_Mutation_p.M24I|FCRLA_ENST00000294796.4_Missense_Mutation_p.M24I			Q7L513	FCRLA_HUMAN	Fc receptor-like A	24					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGGCCCAGATGCTACTGGGTA	0.502													4	120					0	0	0	0	A	161677126	G	A	161677126	3	1	90	1	0	0	0	0	1	0	0	0	5845	1319	46	4	125	4	FCRLA	1	161677126	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	6502254	161677126	87573495	11	17404											
NCF2	4688	broad.mit.edu	37	chr1	183546795	183546795	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agtctatcagctggttccctCgaagctgaatcaaggcttct	9	12	9	11	1	4	1	2	1	2	0	6	2	5	1	1	2	2	4	1	2	4	3	rs137854515		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:183546795C>G	ENST00000413720.1	-	3	579	c.305G>C	c.(304-306)cGa>cCa	p.R102P	NCF2_ENST00000367535.3_Missense_Mutation_p.R102P|NCF2_ENST00000418089.1_Missense_Mutation_p.R102P|NCF2_ENST00000367536.1_Missense_Mutation_p.R102P	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	102			R -> P (in CGD2; dbSNP:rs137854515).		cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CTGGTTCCCTCGAAGCTGAAT	0.488													24	181					0	0	0	0	G	183546795	C	G	183546795	3	3	90	1	0	0	0	0	1	0	0	0	10287	884	31	3	1327	3	NCF2	1	183546795	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	21869669	183546795	65703826	12	17405											
CACNA1S	779	broad.mit.edu	37	chr1	201016272	201016272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacaatgtccttcttgggccGatagccataatactcctctt	9	14	6	12	1	2	0	0	0	2	0	4	1	4	0	4	1	3	0	4	1	5	7			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:201016272G>A	ENST00000362061.3	-	38	4865	c.4639C>T	c.(4639-4641)Cgg>Tgg	p.R1547W	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1528W	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1547					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTCTTGGGCCGATAGCCATAA	0.517													90	205					0	0	0	0	A	201016272	G	A	201016272	3	1	90	1	0	0	0	0	1	0	0	0	2572	1057	37	1	1010	1	CACNA1S	1	201016272	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	17469477	201016272	48234349	13	17406											
NAV1	89796	broad.mit.edu	37	chr1	201777960	201777960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacgccgctccctaggcctgGcactcacccattccttcggc	5	8	8	20	3	1	0	1	0	0	0	4	0	3	0	5	3	0	2	5	3	1	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:201777960G>A	ENST00000367296.4	+	20	4588	c.4168G>A	c.(4168-4170)Gca>Aca	p.A1390T	NAV1_ENST00000367297.4_Missense_Mutation_p.A1382T|NAV1_ENST00000367295.1_Missense_Mutation_p.A996T|NAV1_ENST00000367300.3_Missense_Mutation_p.A1330T|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.A1343T|NAV1_ENST00000295624.6_Missense_Mutation_p.A1387T	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1390					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTAGGCCTGGCACTCACCCA	0.562													6	304					0	0	0	0	A	201777960	G	A	201777960	3	1	90	1	0	0	0	0	1	0	0	0	10253	1203	42	4	4303	4	NAV1	1	201777960	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	761688	201777960	47472661	14	17407											
KCNH1	3756	broad.mit.edu	37	chr1	211192356	211192356	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaaggtggtatgaaaattGagcacaatgtccaccaaaaa	19	7	8	7	0	0	2	0	2	0	0	1	2	1	2	2	2	1	2	2	2	7	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:211192356G>A	ENST00000367007.4	-	6	970	c.801C>T	c.(799-801)ctC>ctT	p.L267L	KCNH1_ENST00000271751.4_Silent_p.L267L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	267					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TATGAAAATTGAGCACAATGT	0.453													21	159					0	0	0	0	A	211192356	G	A	211192356	2	1	90	1	0	0	0	0	0	0	0	1	8084	1277	45	2		2	KCNH1	1	211192356	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	9414396	211192356	38058265	15	17408											
RYR2	6262	broad.mit.edu	37	chr1	237868594	237868594	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggaaactcatctggacaaAcataatatttactccatcta	15	13	4	9	0	3	0	1	0	2	0	4	2	4	2	1	2	3	0	1	2	6	6			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:237868594A>G	ENST00000366574.2	+	67	9848	c.9531A>G	c.(9529-9531)aaA>aaG	p.K3177K	RYR2_ENST00000542537.1_Silent_p.K3161K|RYR2_ENST00000360064.6_Silent_p.K3175K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3177					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.K3175K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCTGGACAAACATAATATTT	0.388													16	17					0	0	0	0	G	237868594	A	G	237868594	2	3	90	1	0	0	0	0	0	0	0	1	13854	40	2	5		5	RYR2	1	237868594	Silent	SNP	A	TCGA-CN-5374-01A-01D-1434-08	26676238	237868594	11382027	16	17409											
NT5C1B	93034	broad.mit.edu	37	chr2	18765901	18765901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcggacagagagttgCggtccagctgggtggaggcg	6	7	19	9	3	0	1	0	0	0	1	2	4	1	3	1	5	3	4	1	5	0	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:18765901C>T	ENST00000304081.4	-	4	702	c.602G>A	c.(601-603)cGc>cAc	p.R201H	NT5C1B_ENST00000600945.1_Missense_Mutation_p.R261H|NT5C1B_ENST00000359846.2_Missense_Mutation_p.R261H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R261H	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CAGAGAGTTGCGGTCCAGCTG	0.652													4	24					0	0	0	0	T	18765901	C	T	18765901	3	4	90	1	0	0	0	0	1	0	0	0	10757	768	27	1	1074	1	NT5C1B	2	18765901	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08		18765901	224433472	17	17410											
ADCY3	109	broad.mit.edu	37	chr2	25042974	25042974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggaggatgacttgggtttCttctaccacctggagaggga	8	11	14	8	1	2	2	0	1	2	1	3	6	2	5	2	5	1	1	2	5	1	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:25042974C>T	ENST00000260600.5	-	21	4113	c.3262G>A	c.(3262-3264)Gaa>Aaa	p.E1088K	CENPO_ENST00000473706.1_3'UTR|CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.E675K	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1088					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ACTTGGGTTTCTTCTACCACC	0.612													8	82					0	0	0	0	T	25042974	C	T	25042974	3	4	90	1	0	0	0	0	1	0	0	0	295	922	32	2	176	2	ADCY3	2	25042974	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	6277073	25042974	218156399	18	17411											
LTBP1	4052	broad.mit.edu	37	chr2	33487804	33487804	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccaggaaataccttcattgGatcaagagaaaaccaaactt	17	9	6	9	0	2	1	2	0	0	1	3	4	3	3	3	2	3	0	3	2	6	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:33487804G>C	ENST00000404816.2	+	14	2787	c.2434G>C	c.(2434-2436)Gat>Cat	p.D812H	LTBP1_ENST00000354476.3_Missense_Mutation_p.D812H|LTBP1_ENST00000390003.4_Missense_Mutation_p.D486H|LTBP1_ENST00000418533.2_Missense_Mutation_p.D486H|LTBP1_ENST00000402934.1_Missense_Mutation_p.D433H|LTBP1_ENST00000404525.1_Missense_Mutation_p.D433H|LTBP1_ENST00000407925.1_Missense_Mutation_p.D486H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	812					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCTTCATTGGATCAAGAGAA	0.368													11	107					0	0	0	0	C	33487804	G	C	33487804	3	2	90	1	0	0	0	0	1	0	0	0	9137	1174	41	2	2543	2	LTBP1	2	33487804	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	8444830	33487804	209711569	19	17412											
FAM98A	25940	broad.mit.edu	37	chr2	33809952	33809952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgataattctggctccctCttcctccccagcctcctccc	4	12	6	19	0	2	1	0	1	2	0	7	1	7	1	7	2	1	1	7	2	1	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:33809952C>T	ENST00000238823.8	-	8	1588	c.1448G>A	c.(1447-1449)aGa>aAa	p.R483K	FAM98A_ENST00000441530.2_Missense_Mutation_p.R288K|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	484	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTGGCTCCCTCTTCCTCCCCA	0.562													46	300					0	0	0	0	T	33809952	C	T	33809952	3	4	90	1	0	0	0	0	1	0	0	0	5701	913	32	2	112	2	FAM98A	2	33809952	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	322148	33809952	209389421	20	17413											
LRRTM1	347730	broad.mit.edu	37	chr2	80530589	80530589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctggttggaactcagcGtgagttccttaactcggcgc	7	12	12	10	3	2	2	1	2	1	0	4	3	3	3	1	3	3	2	1	3	2	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:80530589G>A	ENST00000295057.3	-	2	1012	c.356C>T	c.(355-357)aCg>aTg	p.T119M	CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.T119M|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	119						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGAACTCAGCGTGAGTTCCTT	0.582										HNSCC(69;0.2)			58	179					0	0	0	0	A	80530589	G	A	80530589	3	1	90	1	0	0	0	0	1	0	0	0	9103	1145	40	1	1216	1	LRRTM1	2	80530589	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	46720637	80530589	162668784	21	17414											
PDCL3	79031	broad.mit.edu	37	chr2	101188229	101188229	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcagtttattggtcctctGgtgtttggcggcatgaacct	5	15	12	9	1	2	1	1	1	1	0	3	1	3	1	2	4	1	4	2	4	2	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:101188229G>A	ENST00000264254.6	+	5	924	c.546G>A	c.(544-546)ctG>ctA	p.L182L		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	182					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TTGGTCCTCTGGTGTTTGGCG	0.493													11	235					0	0	0	0	A	101188229	G	A	101188229	2	1	90	1	0	0	0	0	0	0	0	1	11699	1335	47	4		4	PDCL3	2	101188229	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	20657640	101188229	142011144	22	17415											
MRPS9	64965	broad.mit.edu	37	chr2	105708870	105708870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctgcagtatatgcagttCattcggctgctagaaaagtt	10	14	10	7	1	2	1	1	0	1	1	3	1	2	1	0	1	3	7	0	1	5	6			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:105708870C>T	ENST00000258455.3	+	8	773	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	221					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATATGCAGTTCATTCGGCTGC	0.353													17	77					0	0	0	0	T	105708870	C	T	105708870	2	4	90	1	0	0	0	0	0	0	0	1	9919	825	29	2		2	MRPS9	2	105708870	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	4520641	105708870	137490503	23	17416											
WDR33	55339	broad.mit.edu	37	chr2	128477169	128477169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggagggtgaggtcctctCatctcttgaggcgggtggcc	4	10	16	11	1	2	2	1	2	2	0	5	3	3	3	3	6	0	0	3	6	0	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:128477169C>T	ENST00000322313.4	-	16	2588	c.2430G>A	c.(2428-2430)atG>atA	p.M810I		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	810					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GAGGTCCTCTCATCTCTTGAG	0.617													12	100					0	0	0	0	T	128477169	C	T	128477169	3	4	90	1	0	0	0	0	1	0	0	0	17383	826	29	2	1608	2	WDR33	2	128477169	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	22768299	128477169	114722204	24	17417											
LRP1B	53353	broad.mit.edu	37	chr2	142888281	142888281	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cccgagagagtgagtaaggcGaggagaaactcggacattgt	13	6	15	7	3	0	3	0	1	0	2	1	8	0	4	1	3	1	1	1	3	2	2	rs139525868		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:142888281G>C	ENST00000389484.3	-	1	989	c.18C>G	c.(16-18)ctC>ctG	p.L6L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	6					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAGTAAGGCGAGGAGAAACT	0.677										TSP Lung(27;0.18)			5	14					0	0	0	0	C	142888281	G	C	142888281	2	2	90	1	0	0	0	0	0	0	0	1	9019	1045	37	3		3	LRP1B	2	142888281	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	14411112	142888281	100311092	25	17418											
GTF3C3	9330	broad.mit.edu	37	chr2	197656160	197656160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagacctctcagagctctggGaagtttactccgaggccttt	8	11	11	11	1	2	2	1	0	2	2	4	5	3	3	3	2	2	2	3	2	2	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:197656160G>A	ENST00000263956.3	-	4	525	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	GTF3C3_ENST00000409364.3_Missense_Mutation_p.P146S|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	146						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGAGCTCTGGGAAGTTTACTC	0.393													6	109					0	0	0	0	A	197656160	G	A	197656160	3	1	90	1	0	0	0	0	1	0	0	0	6924	1174	41	2	2284	2	GTF3C3	2	197656160	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	54767879	197656160	45543213	26	17419											
FN1	2335	broad.mit.edu	37	chr2	216292957	216292957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttccactctcctcggcCgttgcctgtgcagatgcact	6	11	8	16	2	1	1	0	0	1	1	4	1	2	1	4	1	3	3	4	1	0	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:216292957C>T	ENST00000354785.4	-	6	1159	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	FN1_ENST00000443816.1_Missense_Mutation_p.G264S|FN1_ENST00000432072.2_Missense_Mutation_p.G264S|FN1_ENST00000357867.4_Missense_Mutation_p.G264S|FN1_ENST00000446046.1_Missense_Mutation_p.G264S|FN1_ENST00000421182.1_Missense_Mutation_p.G264S|FN1_ENST00000359671.1_Missense_Mutation_p.G264S|FN1_ENST00000356005.4_Missense_Mutation_p.G264S|FN1_ENST00000357009.2_Missense_Mutation_p.G264S|FN1_ENST00000426059.1_Missense_Mutation_p.G264S|FN1_ENST00000346544.3_Missense_Mutation_p.G264S|FN1_ENST00000345488.5_Missense_Mutation_p.G264S|FN1_ENST00000336916.4_Missense_Mutation_p.G264S|FN1_ENST00000323926.6_Missense_Mutation_p.G264S			P02751	FINC_HUMAN	fibronectin 1	264	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.G264S(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCCTCGGCCGTTGCCTGTG	0.557													43	96					0	0	0	0	T	216292957	C	T	216292957	3	4	90	1	0	0	0	0	1	0	0	0	6007	652	23	1	6840	1	FN1	2	216292957	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	18636797	216292957	26906416	27	17420											
RUFY4	285180	broad.mit.edu	37	chr2	218954013	218954013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagaggctccagcatctctCttccatggctcccgagtgct	6	10	10	15	1	2	1	0	0	2	1	6	2	5	1	3	2	2	5	3	2	0	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:218954013C>G	ENST00000374155.3	+	11	2011	c.1601C>G	c.(1600-1602)tCt>tGt	p.S534C	RUFY4_ENST00000344321.7_Missense_Mutation_p.S514C|RUFY4_ENST00000441828.2_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	514							metal ion binding	p.S534C(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAGCATCTCTCTTCCATGGCT	0.542													8	53					0	0	0	0	G	218954013	C	G	218954013	3	3	90	1	0	0	0	0	1	0	0	0	13826	913	32	2	1579	2	RUFY4	2	218954013	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	2661056	218954013	24245360	28	17421											
HDLBP	3069	broad.mit.edu	37	chr2	242196114	242196114	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggggtcatctgggcgtggGatctggattttggttgcagt	4	14	17	6	1	3	0	1	0	2	0	3	2	3	2	0	6	1	2	0	6	0	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:242196114G>A	ENST00000391975.1	-	6	785	c.558C>T	c.(556-558)atC>atT	p.I186I	HDLBP_ENST00000391976.2_Silent_p.I186I|HDLBP_ENST00000427183.2_Silent_p.I222I|HDLBP_ENST00000310931.4_Silent_p.I186I	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	186	KH 1.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	p.I186I(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTGGGCGTGGGATCTGGATTT	0.483													6	135					0	0	0	0	A	242196114	G	A	242196114	2	1	90	1	0	0	0	0	0	0	0	1	7075	1164	41	2		2	HDLBP	2	242196114	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	23242101	242196114	1003259	29	17422											
MTMR14	64419	broad.mit.edu	37	chr3	9711137	9711137	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcagatgatgcctgggCagatgtggaggacgtcacgg	8	7	19	7	2	1	3	1	1	0	2	1	5	1	5	1	5	2	2	1	5	0	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:9711137C>A	ENST00000296003.4	+	5	637	c.515C>A	c.(514-516)gCa>gAa	p.A172E	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.A172E|MTMR14_ENST00000353332.5_Missense_Mutation_p.A172E	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	172						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GATGCCTGGGCAGATGTGGAG	0.612													17	101					2.35188e-11	2.53126e-11	1	0	A	9711137	C	A	9711137	3	1	90	1	0	0	0	0	1	0	0	0	10012	710	25	4	533	4	MTMR14	3	9711137	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08		9711137	188311293	30	17423											
EFHB	151651	broad.mit.edu	37	chr3	19961420	19961420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactctttctactccagcagGtggatatctgaagttgaaat	11	14	8	8	0	3	2	0	2	3	0	4	3	4	3	1	2	3	2	1	2	5	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:19961420G>A	ENST00000295824.9	-	3	1062	c.901C>T	c.(901-903)Cct>Tct	p.P301S	EFHB_ENST00000344838.4_Missense_Mutation_p.P171S|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	301					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ACTCCAGCAGGTGGATATCTG	0.343													31	159					0	0	0	0	A	19961420	G	A	19961420	3	1	90	1	0	0	0	0	1	0	0	0	4981	1261	44	4	1644	4	EFHB	3	19961420	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	10250283	19961420	178061010	31	17424											
ZCWPW2	152098	broad.mit.edu	37	chr3	28520338	28520338	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaataaaaagaagtggtatAaaagtgcactacaagaagca	22	6	9	4	0	0	3	0	0	0	3	0	3	0	3	0	1	3	3	0	1	11	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:28520338A>G	ENST00000383768.2	+	5	714	c.526A>G	c.(526-528)Aaa>Gaa	p.K176E	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.K176E			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	176							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GAAGTGGTATAAAAGTGCACT	0.274													10	81					0	0	0	0	G	28520338	A	G	28520338	3	3	90	1	0	0	0	0	1	0	0	0	17693	363	13	5	536	5	ZCWPW2	3	28520338	Missense_Mutation	SNP	A	TCGA-CN-5374-01A-01D-1434-08	8558918	28520338	169502092	32	17425											
TRANK1	9881	broad.mit.edu	37	chr3	36874112	36874112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggattcccggcggttgCgtgcgctttcattttcaaac	5	14	11	11	4	2	0	2	0	0	0	3	1	3	1	1	3	3	2	1	3	1	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:36874112C>T	ENST00000429976.2	-	21	7077	c.6830G>A	c.(6829-6831)cGc>cAc	p.R2277H	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1727H|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1727H			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2277					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGGCGGTTGCGTGCGCTTTC	0.478													5	112					0	0	0	0	T	36874112	C	T	36874112	3	4	90	1	0	0	0	0	1	0	0	0	16549	768	27	1	1959	1	TRANK1	3	36874112	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	8353774	36874112	161148318	33	17426											
DLEC1	9940	broad.mit.edu	37	chr3	38105339	38105339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcccacagttgtgctGatactccagtgtttctagct	7	16	7	11	0	2	1	1	1	1	0	4	1	4	1	2	0	3	4	2	0	2	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:38105339G>T	ENST00000308059.6	+	6	1123	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	DLEC1_ENST00000452631.2_Missense_Mutation_p.D368Y|DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000346219.3_Missense_Mutation_p.D368Y			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	368					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CAGTTGTGCTGATACTCCAGT	0.378													33	262					3.03874e-20	3.3413e-20	1	0	T	38105339	G	T	38105339	3	4	90	1	0	0	0	0	1	0	0	0	4589	1290	45	2	1124	2	DLEC1	3	38105339	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	1231227	38105339	159917091	34	17427											
ITIH4	3700	broad.mit.edu	37	chr3	52850976	52850976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgagtcaccaccacgtgttCaggggatgcgtgaacccata	10	7	11	13	3	2	1	2	1	0	0	2	3	2	2	4	2	2	1	4	2	2	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:52850976C>G	ENST00000266041.4	-	21	2491	c.2395G>C	c.(2395-2397)Gaa>Caa	p.E799Q	ITIH4_ENST00000406595.1_Missense_Mutation_p.E769Q|ITIH4_ENST00000346281.5_Missense_Mutation_p.E783Q|ITIH4_ENST00000485816.1_Missense_Mutation_p.E804Q	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	799					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCACGTGTTCAGGGGATGCG	0.582													48	296					0	0	0	0	G	52850976	C	G	52850976	3	3	90	1	0	0	0	0	1	0	0	0	7959	835	29	2	413	2	ITIH4	3	52850976	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	14745637	52850976	145171454	35	17428											
POPDC2	64091	broad.mit.edu	37	chr3	119367500	119367500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtagctacatgaggtctCagcagtcagagtgacctgag	12	9	12	8	0	2	4	2	3	1	1	3	4	2	4	1	1	3	3	1	1	3	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:119367500C>T	ENST00000493094.1	-	3	1075	c.616G>A	c.(616-618)Gag>Aag	p.E206K	POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000264231.3_Missense_Mutation_p.E206K|POPDC2_ENST00000538678.1_Missense_Mutation_p.E206K|POPDC2_ENST00000468801.1_Missense_Mutation_p.E206K			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	206						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CATGAGGTCTCAGCAGTCAGA	0.473													9	86					0	0	0	0	T	119367500	C	T	119367500	3	4	90	1	0	0	0	0	1	0	0	0	12327	835	29	2	486	2	POPDC2	3	119367500	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	66516524	119367500	78654930	36	17429											
POLQ	10721	broad.mit.edu	37	chr3	121258366	121258366	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agactgcaatatccaatgaaGagaaatgccttgatggagag	16	8	11	6	0	0	5	0	2	0	3	1	7	1	5	2	1	2	1	2	1	5	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:121258366G>C	ENST00000264233.5	-	4	673	c.545C>G	c.(544-546)tCt>tGt	p.S182C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	182	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATCCAATGAAGAGAAATGCCT	0.398								DNA polymerases (catalytic subunits)					6	237					0	0	0	0	C	121258366	G	C	121258366	3	2	90	1	0	0	0	0	1	0	0	0	12280	942	33	2	7335	2	POLQ	3	121258366	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	1890866	121258366	76764064	37	17430											
KALRN	8997	broad.mit.edu	37	chr3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgagccctcggagtttgtgCgacttccagaatatggtgag	8	10	14	9	3	0	2	0	1	0	1	2	5	1	3	2	2	2	1	2	2	2	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:124418865C>T	ENST00000360013.3	+	56	8108	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597													5	288					0	0	0	0	T	124418865	C	T	124418865	4	4	90	1	0	0	0	0	0	1	0	0	8028	760	27	1	8359	1	KALRN	3	124418865	Nonsense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	3160499	124418865	73603565	38	17431											
TF	7018	broad.mit.edu	37	chr3	133476692	133476692	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacctgctgtttaaggactCtgcccacgggtttttaaaag	9	12	11	9	1	1	0	0	0	1	0	1	2	1	2	2	3	2	3	2	3	3	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:133476692C>G	ENST00000402696.3	+	8	1435	c.950C>G	c.(949-951)tCt>tGt	p.S317C	TF_ENST00000264998.3_Missense_Mutation_p.S190C	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	317	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TTTAAGGACTCTGCCCACGGG	0.458													20	191					0	0	0	0	G	133476692	C	G	133476692	3	3	90	1	0	0	0	0	1	0	0	0	15879	913	32	2	980	2	TF	3	133476692	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	9057827	133476692	64545738	39	17432											
PLSCR2	57047	broad.mit.edu	37	chr3	146171886	146171886	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttaattgtaaactttgttAgacatgggtgccaggtctga	10	16	10	5	0	1	2	0	1	1	1	1	2	1	2	1	2	2	2	1	2	4	6			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:146171886A>G	ENST00000497985.1	-	7	1044	c.605T>C	c.(604-606)cTa>cCa	p.L202P	PLSCR2_ENST00000336685.2_Missense_Mutation_p.L129P	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	129					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						AAACTTTGTTAGACATGGGTG	0.373													12	147					0	0	0	0	G	146171886	A	G	146171886	3	3	90	1	0	0	0	0	1	0	0	0	12182	420	15	5	300	5	PLSCR2	3	146171886	Missense_Mutation	SNP	A	TCGA-CN-5374-01A-01D-1434-08	12695194	146171886	51850544	40	17433											
MME	4311	broad.mit.edu	37	chr3	154886339	154886339	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggactcaacagtctgcaagTaactttaaggagcaatccca	14	9	8	10	0	2	0	1	0	1	0	3	2	3	2	1	2	4	3	1	2	5	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:154886339T>G	ENST00000460393.1	+	19	1959	c.1839T>G	c.(1837-1839)agT>agG	p.S613R	MME_ENST00000492661.1_Missense_Mutation_p.S613R|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000493237.1_Missense_Mutation_p.S613R|MME_ENST00000462745.1_Missense_Mutation_p.S613R|MME_ENST00000360490.2_Missense_Mutation_p.S613R	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	613					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AGTCTGCAAGTAACTTTAAGG	0.408													50	156					0	0	0	0	G	154886339	T	G	154886339	3	3	90	1	0	0	0	0	1	0	0	0	9714	1635	57	5	1909	5	MME	3	154886339	Missense_Mutation	SNP	T	TCGA-CN-5374-01A-01D-1434-08	8714453	154886339	43136091	41	17434											
PLCH1	23007	broad.mit.edu	37	chr3	155203166	155203166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagagagttttcttttccttCaatgtcttttgctgtttcag	6	21	7	7	0	4	1	2	0	2	1	5	2	5	1	1	0	1	3	1	0	2	9			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:155203166C>T	ENST00000460012.1	-	22	3220	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	PLCH1_ENST00000340059.7_Missense_Mutation_p.E993K|PLCH1_ENST00000447496.2_Missense_Mutation_p.E993K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E955K|PLCH1_ENST00000414191.1_Missense_Mutation_p.E955K|PLCH1_ENST00000494598.1_Missense_Mutation_p.E973K			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	993					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTTTTCCTTCAATGTCTTTT	0.453													13	198					0	0	0	0	T	155203166	C	T	155203166	3	4	90	1	0	0	0	0	1	0	0	0	12109	835	29	2	2127	2	PLCH1	3	155203166	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	316827	155203166	42819264	42	17435											
TACC3	10460	broad.mit.edu	37	chr4	1730363	1730363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgactgggacaaaatggatGacccaaacttcatcccgttc	12	9	8	12	2	1	1	1	1	0	0	4	4	2	3	2	2	1	1	2	2	3	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr4:1730363G>A	ENST00000313288.4	+	4	1340	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	412						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAAAATGGATGACCCAAACTT	0.632													25	95					0	0	0	0	A	1730363	G	A	1730363	3	1	90	1	0	0	0	0	1	0	0	0	15594	1290	45	2	1244	2	TACC3	4	1730363	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08		1730363	189423913	43	17436											
JAKMIP1	152789	broad.mit.edu	37	chr4	6064157	6064157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgcaggtcagcctcctctCgggctgtggccttcacataa	7	9	11	14	2	3	0	2	0	1	0	5	0	4	0	3	3	2	2	3	3	1	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr4:6064157C>T	ENST00000409021.3	-	10	1891	c.1442G>A	c.(1441-1443)cGa>cAa	p.R481Q	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R296Q|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R481Q|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R481Q|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R316Q	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	481	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.R481Q(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCCTCCTCTCGGGCTGTGGC	0.473													17	71					0	0	0	0	T	6064157	C	T	6064157	3	4	90	1	0	0	0	0	1	0	0	0	7993	884	31	1	1176	1	JAKMIP1	4	6064157	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	4333794	6064157	185090119	44	17437											
GUCY1A3	2982	broad.mit.edu	37	chr4	156638419	156638419	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagatgatggagctctctGatgaagttatgtctccccat	10	13	10	8	0	2	5	0	4	2	1	4	6	2	6	2	1	1	2	2	1	3	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr4:156638419G>C	ENST00000296518.7	+	8	1890	c.1681G>C	c.(1681-1683)Gat>Cat	p.D561H	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.D303H|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D561H|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D561H|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D561H|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D561H|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D561H			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	561	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGAGCTCTCTGATGAAGTTAT	0.438													18	70					0	0	0	0	C	156638419	G	C	156638419	3	2	90	1	0	0	0	0	1	0	0	0	6944	1290	45	2	1718	2	GUCY1A3	4	156638419	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	150574262	156638419	34515857	45	17438											
NPY5R	4889	broad.mit.edu	37	chr4	164272702	164272702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttaatccaattctatatgGgtttcttaataatgggatta	12	18	6	5	0	3	0	0	0	3	0	4	1	4	1	1	2	0	1	1	2	7	8			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr4:164272702G>T	ENST00000515560.1	+	4	2799	c.1277G>T	c.(1276-1278)gGg>gTg	p.G426V	NPY5R_ENST00000506953.1_Missense_Mutation_p.G426V|NPY5R_ENST00000338566.3_Missense_Mutation_p.G426V			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	426					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTCTATATGGGTTTCTTAAT	0.333													24	131					1.10923e-09	1.17885e-09	1	0	T	164272702	G	T	164272702	3	4	90	1	0	0	0	0	1	0	0	0	10681	1232	43	4	1279	4	NPY5R	4	164272702	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	7634283	164272702	26881574	46	17439											
TRIML2	205860	broad.mit.edu	37	chr4	189026443	189026443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaacatcacagaacagcCgtgttggttccaggtgtgtt	9	11	12	9	1	2	1	2	0	0	1	3	1	3	1	2	3	3	3	2	3	2	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr4:189026443C>T	ENST00000536972.1	-	2	327	c.80G>A	c.(79-81)cGg>cAg	p.R27Q	TRIML2_ENST00000512729.1_5'UTR			Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	178							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ACAGAACAGCCGTGTTGGTTC	0.502													61	123					0	0	0	0	T	189026443	C	T	189026443	3	4	90	1	0	0	0	0	1	0	0	0	16646	667	23	1		1	TRIML2	4	189026443	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	24753741	189026443	2127833	47	17440											
IRX1	79192	broad.mit.edu	37	chr5	3599879	3599879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcgccgctggcagcagccGacgttctcaagccccaggac	7	5	12	17	4	1	0	1	0	1	0	3	2	1	1	4	2	3	5	4	2	1	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:3599879G>A	ENST00000302006.3	+	2	869	c.817G>A	c.(817-819)Gac>Aac	p.D273N	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	273						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGCAGCAGCCGACGTTCTCAA	0.726													8	8					0	0	0	0	A	3599879	G	A	3599879	3	1	90	1	0	0	0	0	1	0	0	0	7896	1058	37	1	823	1	IRX1	5	3599879	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08		3599879	177315381	48	17441											
NPR3	4883	broad.mit.edu	37	chr5	32783030	32783030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattttggaaaagaaggtcGttttgaaatgcggccgaatg	12	13	12	4	3	0	2	0	1	0	1	1	4	0	3	1	3	1	1	1	3	6	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:32783030G>A	ENST00000265074.8	+	6	1665	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	NPR3_ENST00000415685.2_Missense_Mutation_p.R225H|NPR3_ENST00000434067.2_Missense_Mutation_p.R225H|NPR3_ENST00000415167.2_Missense_Mutation_p.R441H	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	441					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.R441H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AAAGAAGGTCGTTTTGAAATG	0.398													9	25					0	0	0	0	A	32783030	G	A	32783030	3	1	90	1	0	0	0	0	1	0	0	0	10667	1145	40	1	1344	1	NPR3	5	32783030	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	29183151	32783030	148132230	49	17442											
SPEF2	79925	broad.mit.edu	37	chr5	35705876	35705876	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaaaagtaaaagaaatTcttacgactgaaatagcaaa	21	9	7	4	1	1	3	0	2	1	1	1	4	1	3	0	0	2	2	0	0	9	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:35705876T>C	ENST00000440995.2	+	18	2616	c.2616T>C	c.(2614-2616)atT>atC	p.I872I	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Silent_p.I872I|SPEF2_ENST00000356031.3_Silent_p.I877I			Q9C093	SPEF2_HUMAN	sperm flagellar 2	877					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAAAAGAAATTCTTACGACTG	0.279													3	73					0	0	0	0	C	35705876	T	C	35705876	2	2	90	1	0	0	0	0	0	0	0	1	15125	1771	62	5		5	SPEF2	5	35705876	Silent	SNP	T	TCGA-CN-5374-01A-01D-1434-08	2922846	35705876	145209384	50	17443											
ESM1	11082	broad.mit.edu	37	chr5	54275189	54275189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttaaccatttcctcattaCgggagacccggcagcattct	10	12	7	12	2	2	1	1	0	1	1	3	2	3	1	3	2	3	2	3	2	2	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:54275189C>T	ENST00000381405.4	-	3	671	c.526G>A	c.(526-528)Gta>Ata	p.V176I	ESM1_ENST00000598310.1_5'UTR|ESM1_ENST00000381403.4_Missense_Mutation_p.V126I	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	176					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTCCTCATTACGGGAGACCCG	0.438													35	196					0	0	0	0	T	54275189	C	T	54275189	3	4	90	1	0	0	0	0	1	0	0	0	5290	536	19	1	32	1	ESM1	5	54275189	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	18569313	54275189	126640071	51	17444											
MAN2A1	4124	broad.mit.edu	37	chr5	109152986	109152986	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgcaggtaccttgtggtCtataatcctttagaacaaga	11	15	8	7	0	1	2	0	0	1	2	2	2	2	2	2	2	3	2	2	2	6	8			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:109152986C>G	ENST00000261483.4	+	13	3008	c.1956C>G	c.(1954-1956)gtC>gtG	p.V652V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	652					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.V652V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACCTTGTGGTCTATAATCCTT	0.373													24	179					0	0	0	0	G	109152986	C	G	109152986	2	3	90	1	0	0	0	0	0	0	0	1	9283	900	32	2		2	MAN2A1	5	109152986	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	54877797	109152986	71762274	52	17445											
PCDHB11	56125	broad.mit.edu	37	chr5	140579531	140579531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgagagaactgtcctcaCggggggctcgggtggtctct	6	9	17	9	2	2	2	1	1	1	1	5	3	3	2	1	6	1	1	1	6	1	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:140579531C>T	ENST00000354757.3	+	1	184	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		62	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGTCCTCACGGGGGGCTCG	0.507													7	185					0	0	0	0	T	140579531	C	T	140579531	3	4	90	1	0	0	0	0	1	0	0	0	11607	527	19	1	186	1	PCDHB11	5	140579531	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	31426545	140579531	40335729	53	17446											
PCDH12	51294	broad.mit.edu	37	chr5	141336463	141336463	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcctgaacatccacctcGtaggcagggttcttttcata	8	13	8	12	1	2	1	1	1	1	0	4	1	3	1	3	2	2	3	3	2	3	6	rs148884293	by1000genomes	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:141336463G>A	ENST00000231484.3	-	1	2164	c.954C>T	c.(952-954)taC>taT	p.Y318Y		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	318	Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACCTCGTAGGCAGGGT	0.517													16	98					0	0	0	0	A	141336463	G	A	141336463	2	1	90	1	0	0	0	0	0	0	0	1	11581	1140	40	1		1	PCDH12	5	141336463	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	756932	141336463	39578797	54	17447											
ANXA6	309	broad.mit.edu	37	chr5	150514043	150514043	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtcatcctcctccctggttCcctgggcagaaagacaaaga	10	8	9	14	1	1	3	1	0	0	3	5	3	5	3	4	2	0	2	4	2	2	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:150514043C>A	ENST00000354546.5	-	8	718	c.489_splice	c.e8-1	p.G164_splice	ANXA6_ENST00000523714.1_Splice_Site_p.G132_splice|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000356496.5_Splice_Site_p.G164_splice	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	164						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCCTGGTTCCCTGGGCAGA	0.542													5	213					0.00116845	0.00119671	1	0	A	150514043	C	A	150514043	5	1	90	1	0	0	0	0	0	0	1	0	721	869	30	2	1606	2	ANXA6	5	150514043	Splice_Site	SNP	C	TCGA-CN-5374-01A-01D-1434-08	9177580	150514043	30401217	55	17448											
FGFR4	2264	broad.mit.edu	37	chr5	176524631	176524631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagccacgaccccctgcCattgggatccagctccttcc	6	9	7	19	1	1	0	1	0	0	0	4	2	4	1	7	1	3	1	7	1	0	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:176524631C>T	ENST00000292408.4	+	18	2608	c.2363C>T	c.(2362-2364)cCa>cTa	p.P788L	FGFR4_ENST00000393637.1_Missense_Mutation_p.P748L|FGFR4_ENST00000292410.3_Missense_Mutation_p.P748L|FGFR4_ENST00000393648.2_Missense_Mutation_p.P720L|FGFR4_ENST00000502906.1_Missense_Mutation_p.P788L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	788					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GACCCCCTGCCATTGGGATCC	0.642										TSP Lung(9;0.080)			17	82					0	0	0	0	T	176524631	C	T	176524631	3	4	90	1	0	0	0	0	1	0	0	0	5913	594	21	4	2499	4	FGFR4	5	176524631	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	26010588	176524631	4390629	56	17449											
RREB1	6239	broad.mit.edu	37	chr6	7229784	7229784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcggctccccctcagatCagtcttccgcccttctccaa	5	10	6	20	2	4	1	2	0	2	1	8	1	6	1	6	1	0	1	6	1	1	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:7229784C>T	ENST00000379938.2	+	10	1989	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	RREB1_ENST00000334984.6_Silent_p.I484I|RREB1_ENST00000349384.6_Silent_p.I484I|RREB1_ENST00000379933.3_Silent_p.I484I	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	484	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCCTCAGATCAGTCTTCCGC	0.617													11	474					0	0	0	0	T	7229784	C	T	7229784	2	4	90	1	0	0	0	0	0	0	0	1	13764	816	29	2		2	RREB1	6	7229784	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08		7229784	163885283	57	17450											
GCNT2	2651	broad.mit.edu	37	chr6	10621646	10621646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagagctataaagtggagtGacatggaagacagacacgga	16	6	13	6	1	1	4	1	1	0	3	1	7	1	7	0	3	1	1	0	3	4	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:10621646G>A	ENST00000379597.3	+	2	1544	c.988G>A	c.(988-990)Gac>Aac	p.D330N	GCNT2_ENST00000495262.1_Missense_Mutation_p.D330N|GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000316170.3_Missense_Mutation_p.D328N|GCNT2_ENST00000410107.1_Missense_Mutation_p.D44N|GCNT2_ENST00000265012.4_Missense_Mutation_p.D330N			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	330						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AAAGTGGAGTGACATGGAAGA	0.507													6	48					0	0	0	0	A	10621646	G	A	10621646	3	1	90	1	0	0	0	0	1	0	0	0	6350	1290	45	2	2846	2	GCNT2	6	10621646	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	3391862	10621646	160493421	58	17451											
KIF13A	63971	broad.mit.edu	37	chr6	17764821	17764821	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaactctttgtttgaggaCggcctgaaatcatgcacaag	11	11	10	9	1	3	2	2	2	1	0	3	3	3	3	1	2	2	2	1	2	3	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:17764821C>T	ENST00000378814.5	-	37	4793	c.4794G>A	c.(4792-4794)ccG>ccA	p.P1598P	KIF13A_ENST00000378816.5_Silent_p.P1611P|KIF13A_ENST00000378826.2_Silent_p.P1611P|KIF13A_ENST00000378843.2_Silent_p.P1598P|KIF13A_ENST00000259711.6_Silent_p.P1646P	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1646					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGTTTGAGGACGGCCTGAAAT	0.507													10	72					0	0	0	0	T	17764821	C	T	17764821	2	4	90	1	0	0	0	0	0	0	0	1	8325	523	19	1		1	KIF13A	6	17764821	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	7143175	17764821	153350246	59	17452											
KIF13A	63971	broad.mit.edu	37	chr6	17797042	17797042	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaattcttctgttacattcaCcacatagtcctgggataagt	12	14	6	9	0	3	0	1	0	2	0	4	1	4	1	2	1	1	1	2	1	4	6			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:17797042C>A	ENST00000378814.5	-	23	2799	c.2800G>T	c.(2800-2802)Gtg>Ttg	p.V934L	KIF13A_ENST00000378816.5_Missense_Mutation_p.V934L|KIF13A_ENST00000378826.2_Missense_Mutation_p.V934L|KIF13A_ENST00000378843.2_Missense_Mutation_p.V934L|KIF13A_ENST00000259711.6_Missense_Mutation_p.V934L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	934					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTACATTCACCACATAGTCC	0.423													12	66					0.00010058	0.000103851	1	0	A	17797042	C	A	17797042	3	1	90	1	0	0	0	0	1	0	0	0	8325	507	18	4	2710	4	KIF13A	6	17797042	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	32221	17797042	153318025	60	17453											
HIST1H3I	8354	broad.mit.edu	37	chr6	27839826	27839826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctcctgcagcgccatcaCcgccgagctctggaagcgca	8	5	11	17	4	2	0	1	0	1	0	3	2	3	1	5	1	5	3	5	1	1	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:27839826C>A	ENST00000328488.2	-	1	273	c.268G>T	c.(268-270)Gtg>Ttg	p.V90L		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	90					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGCGCCATCACCGCCGAGCTC	0.567													9	189					1.12685e-05	1.17786e-05	1	0	A	27839826	C	A	27839826	3	1	90	1	0	0	0	0	1	0	0	0	7213	507	18	4	146	4	HIST1H3I	6	27839826	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	10042784	27839826	143275241	61	17454											
ZNF165	7718	broad.mit.edu	37	chr6	28056699	28056699	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtgaccagagcttcaaatgGaactcagattttattaacca	14	12	7	8	0	2	3	2	1	0	2	2	4	2	4	2	1	3	1	2	1	4	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:28056699G>C	ENST00000377325.1	+	4	1465	c.909G>C	c.(907-909)tgG>tgC	p.W303C		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	303					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W303C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTTCAAATGGAACTCAGATT	0.363													22	44					0	0	0	0	C	28056699	G	C	28056699	3	2	90	1	0	0	0	0	1	0	0	0	17835	1183	41	2	919	2	ZNF165	6	28056699	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	216873	28056699	143058368	62	17455											
HLA-DRB1	3123	broad.mit.edu	37	chr6	32557568	32557569	+	Translation_Start_Site	INS	-	-	AT																															gagaagcaggcaagtctcacINStcagggagaactatgaaccc																								rs17204758		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:32557568_32557569insAT	ENST00000360004.5	-	0	56_57					NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCAAGTCTCACTCAGGGAGAAC	0.54										Multiple Myeloma(14;0.17)			5	11	---	---	---	---					AT	32557569	-	AT	32557568	6	5	90	1	0	1	1	0	0	0	0	0	7258	580	20	0		0	HLA-DRB1	6	32557568	Translation_Start_Site	INS	-	TCGA-CN-5374-01A-01D-1434-08	4500869	32557568	138557499	63	17456											
CUL7	9820	broad.mit.edu	37	chr6	43006428	43006428	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagactctccacagagacCgccttcagagaacagatggg	13	5	11	12	1	2	4	1	0	1	4	3	6	2	4	3	1	2	1	3	1	1	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:43006428C>T	ENST00000535468.1	-	24	4781	c.4695G>A	c.(4693-4695)gcG>gcA	p.A1565A	CUL7_ENST00000265348.3_Silent_p.A1481A	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1481					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCACAGAGACCGCCTTCAGAG	0.577													19	149					0	0	0	0	T	43006428	C	T	43006428	2	4	90	1	0	0	0	0	0	0	0	1	4092	639	23	1		1	CUL7	6	43006428	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	10448860	43006428	128108639	64	17457											
GTPBP2	54676	broad.mit.edu	37	chr6	43590532	43590532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accagctggtccccctcacgGcaaatcccactgcagcccag	9	5	8	19	1	1	0	1	0	0	0	3	0	3	0	5	2	3	3	5	2	1	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:43590532G>A	ENST00000307126.5	-	10	1304	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Silent_p.C347C	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	435							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCCCCTCACGGCAAATCCCAC	0.597													3	46					0	0	0	0	A	43590532	G	A	43590532	2	1	90	1	0	0	0	0	0	0	0	1	6930	1195	42	4		4	GTPBP2	6	43590532	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	584104	43590532	127524535	65	17458											
TDRD6	221400	broad.mit.edu	37	chr6	46657374	46657374	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaaatccttctgagttttgGattaggttgaggaaacacaa	15	12	9	5	0	1	2	0	2	1	0	2	4	2	4	1	3	1	2	1	3	5	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:46657374G>A	ENST00000544460.1	+	1	1763	c.1509G>A	c.(1507-1509)tgG>tgA	p.W503*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.W503*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	503					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTGAGTTTTGGATTAGGTTGA	0.408													24	181					0	0	0	0	A	46657374	G	A	46657374	4	1	90	1	0	0	0	0	0	1	0	0	15828	1183	41	2	1511	2	TDRD6	6	46657374	Nonsense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	3066842	46657374	124457693	66	17459											
DST	667	broad.mit.edu	37	chr6	56473649	56473649	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctattaaagaaaccttctcaGaggtgcaggggtcaataaga	15	9	10	7	0	2	3	2	0	1	3	3	3	2	3	1	3	2	1	1	3	6	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:56473649G>C	ENST00000370754.5	-	39	5677	c.5678C>G	c.(5677-5679)tCt>tGt	p.S1893C	DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S1715C|DST_ENST00000312431.6_Missense_Mutation_p.S1715C|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.S1715C|DST_ENST00000446842.2_Missense_Mutation_p.S1389C|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	1715					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.S1715C(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACCTTCTCAGAGGTGCAGGG	0.398													7	53					0	0	0	0	C	56473649	G	C	56473649	3	2	90	1	0	0	0	0	1	0	0	0	4819	957	33	2		2	DST	6	56473649	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	9816275	56473649	114641418	67	17460											
MAP3K7	6885	broad.mit.edu	37	chr6	91257806	91257806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaacaattttgattctaagCgcttaatagtatcatttgtg	12	17	6	6	1	3	1	2	1	1	0	3	1	3	1	0	0	2	2	0	0	6	8			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:91257806C>T	ENST00000369329.3	-	10	1201	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	MAP3K7_ENST00000369325.3_Missense_Mutation_p.R347H|MAP3K7_ENST00000369327.3_Missense_Mutation_p.R347H|MAP3K7_ENST00000369332.3_Missense_Mutation_p.R347H|MAP3K7_ENST00000369320.1_Missense_Mutation_p.R28H	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	347					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGATTCTAAGCGCTTAATAGT	0.343													5	84					0	0	0	0	T	91257806	C	T	91257806	3	4	90	1	0	0	0	0	1	0	0	0	9324	768	27	1	812	1	MAP3K7	6	91257806	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	34784157	91257806	79857261	68	17461											
MANEA	79694	broad.mit.edu	37	chr6	96054094	96054094	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcttaatttctatcacctCttttaatgagtggcatgaag	11	15	7	8	0	3	2	1	2	2	0	3	2	3	2	1	1	1	2	1	1	4	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:96054094C>G	ENST00000358812.4	+	5	1336	c.1202C>G	c.(1201-1203)tCt>tGt	p.S401C		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	401	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TCTATCACCTCTTTTAATGAG	0.428													10	104					0	0	0	0	G	96054094	C	G	96054094	3	3	90	1	0	0	0	0	1	0	0	0	9290	913	32	2	1216	2	MANEA	6	96054094	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	4796288	96054094	75060973	69	17462											
AIM1	202	broad.mit.edu	37	chr6	106973015	106973015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctgattgcagacacttaGaggaagtgtccaaaataaac	16	9	8	8	0	1	3	0	1	1	2	2	4	2	4	1	1	2	1	1	1	6	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:106973015G>C	ENST00000369066.3	+	3	3516	c.3029G>C	c.(3028-3030)aGa>aCa	p.R1010T		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1010							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CAGACACTTAGAGGAAGTGTC	0.373													7	169					0	0	0	0	C	106973015	G	C	106973015	3	2	90	1	0	0	0	0	1	0	0	0	430	942	33	2	3039	2	AIM1	6	106973015	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	10918921	106973015	64142052	70	17463											
SOBP	55084	broad.mit.edu	37	chr6	107955074	107955074	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacactgccaactgctctgtCactaaaatccccacgccagt	11	8	6	16	1	2	0	1	0	1	0	3	1	3	0	4	0	3	1	4	0	3	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:107955074C>T	ENST00000317357.5	+	6	1685	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	342							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ACTGCTCTGTCACTAAAATCC	0.642													22	123					0	0	0	0	T	107955074	C	T	107955074	2	4	90	1	0	0	0	0	0	0	0	1	15000	813	29	2		2	SOBP	6	107955074	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	982059	107955074	63159993	71	17464											
VTA1	51534	broad.mit.edu	37	chr6	142525178	142525178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatacctgccattgatcccGcacttttcaatacaatttcc	10	14	3	14	1	1	1	1	1	0	0	3	1	3	1	4	0	3	1	4	0	5	7	rs143729861		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:142525178G>A	ENST00000367630.4	+	7	812	c.754G>A	c.(754-756)Gca>Aca	p.A252T	VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Missense_Mutation_p.A194T	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	252	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CATTGATCCCGCACTTTTCAA	0.388													4	103					0	0	0	0	A	142525178	G	A	142525178	3	1	90	1	0	0	0	0	1	0	0	0	17329	1087	38	1	780	1	VTA1	6	142525178	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	34570104	142525178	28589889	72	17465											
UTRN	7402	broad.mit.edu	37	chr6	145118996	145118996	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaataagtgtgaaagagtttAtagattggatgcatttggaa	16	13	11	1	0	0	3	0	1	0	2	0	5	0	5	0	2	1	2	0	2	6	6			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:145118996A>C	ENST00000367545.3	+	63	9115	c.9115A>C	c.(9115-9117)Ata>Cta	p.I3039L	UTRN_ENST00000367526.4_Missense_Mutation_p.I594L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3039	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAAGAGTTTATAGATTGGAT	0.378													14	89					0	0	0	0	C	145118996	A	C	145118996	3	2	90	1	0	0	0	0	1	0	0	0	17199	449	16	5	9365	5	UTRN	6	145118996	Missense_Mutation	SNP	A	TCGA-CN-5374-01A-01D-1434-08	2593818	145118996	25996071	73	17466											
RMND1	55005	broad.mit.edu	37	chr6	151766520	151766520	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagtggtctcttcacctGtgggaagtcttgttttggaa	6	18	11	6	0	3	0	1	0	2	0	4	2	3	2	1	3	0	1	1	3	3	6			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:151766520G>A	ENST00000367303.4	-	2	549	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	143								p.Q143*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CTCTTCACCTGTGGGAAGTCT	0.438													54	114					0	0	0	0	A	151766520	G	A	151766520	4	1	90	1	0	0	0	0	0	1	0	0	13481	1386	48	4	966	4	RMND1	6	151766520	Nonsense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	6647524	151766520	19348547	74	17467											
PDE10A	10846	broad.mit.edu	37	chr6	165746557	165746557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgagccacggatggggatGaaatccaggttgcagtctcc	9	9	13	10	1	2	2	0	2	2	0	4	4	3	4	3	4	2	2	3	4	1	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:165746557G>A	ENST00000366882.1	-	23	2451	c.2297C>T	c.(2296-2298)tCa>tTa	p.S766L	PDE10A_ENST00000354448.4_Missense_Mutation_p.S766L|PDE10A_ENST00000539869.2_Missense_Mutation_p.S776L			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	766					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GGATGGGGATGAAATCCAGGT	0.502													30	185					0	0	0	0	A	165746557	G	A	165746557	3	1	90	1	0	0	0	0	1	0	0	0	11701	1294	45	2	46	2	PDE10A	6	165746557	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	13980037	165746557	5368510	75	17468											
ZNF12	7559	broad.mit.edu	37	chr7	6732045	6732045	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gttttctcaagcttaatatgGaggagtgatttcccacatcc	10	14	8	9	0	1	1	1	1	1	0	4	3	3	3	2	2	1	2	2	2	3	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:6732045G>C	ENST00000405858.1	-	5	1069	c.528C>G	c.(526-528)ctC>ctG	p.L176L	ZNF12_ENST00000342651.5_Silent_p.L138L|ZNF12_ENST00000404360.1_Silent_p.L102L|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	176					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCTTAATATGGAGGAGTGATT	0.343													12	90					0	0	0	0	C	6732045	G	C	6732045	2	2	90	1	0	0	0	0	0	0	0	1	17813	1161	41	2		2	ZNF12	7	6732045	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08		6732045	152406618	76	17469											
MACC1	346389	broad.mit.edu	37	chr7	20198241	20198241	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttttaccttaccttccccGaggagagctattgtgtcccc	6	13	8	14	1	0	1	0	0	0	1	2	3	2	1	6	1	3	2	6	1	3	6			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:20198241G>A	ENST00000400331.5	-	5	2051	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	MACC1_ENST00000589011.1_Silent_p.L581L|MACC1_ENST00000332878.4_Silent_p.L581L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	581	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TACCTTCCCCGAGGAGAGCTA	0.418													13	301					0	0	0	0	A	20198241	G	A	20198241	2	1	90	1	0	0	0	0	0	0	0	1	9208	1045	37	1		1	MACC1	7	20198241	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	13466196	20198241	138940422	77	17470											
SP4	6671	broad.mit.edu	37	chr7	21550789	21550789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactggactcatctgttacaGaggtgcttggctccccaaga	10	10	10	11	0	2	2	1	0	1	2	3	3	3	3	2	3	3	3	2	3	3	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:21550789G>A	ENST00000222584.3	+	6	2475	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	753					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTGTTACAGAGGTGCTTGG	0.448													22	98					0	0	0	0	A	21550789	G	A	21550789	3	1	90	1	0	0	0	0	1	0	0	0	15054	943	33	2	2279	2	SP4	7	21550789	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	1352548	21550789	137587874	78	17471											
PPP1R9A	55607	broad.mit.edu	37	chr7	94881081	94881081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcttcttaagagagcttGatttcatcaaaagacaggaa	14	14	7	6	0	4	3	2	1	2	2	4	5	4	4	0	1	1	1	0	1	4	6			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:94881081G>C	ENST00000289495.5	+	9	2554	c.2338G>C	c.(2338-2340)Gat>Cat	p.D780H	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D780H|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D780H|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D802H|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D780H|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D780H	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	780	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGAGAGCTTGATTTCATCAA	0.343										HNSCC(28;0.073)			7	58					0	0	0	0	C	94881081	G	C	94881081	3	2	90	1	0	0	0	0	1	0	0	0	12454	1290	45	2	2442	2	PPP1R9A	7	94881081	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	73330292	94881081	64257582	79	17472											
BCAP29	55973	broad.mit.edu	37	chr7	107236385	107236385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaaggtgtacttaaaactCaagcagaaaatactaacaag	21	7	6	7	0	1	1	1	0	0	1	1	1	1	1	0	1	5	2	0	1	10	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:107236385C>G	ENST00000379119.2	+	4	432	c.418C>G	c.(418-420)Caa>Gaa	p.Q140E	BCAP29_ENST00000379117.2_Missense_Mutation_p.Q140E|BCAP29_ENST00000379121.2_Missense_Mutation_p.Q46E|BCAP29_ENST00000465919.1_Missense_Mutation_p.Q46E|BCAP29_ENST00000005259.4_Missense_Mutation_p.Q140E|BCAP29_ENST00000445771.2_Missense_Mutation_p.Q140E|BCAP29_ENST00000494086.1_3'UTR	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	140					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						ACTTAAAACTCAAGCAGAAAA	0.299													16	108					0	0	0	0	G	107236385	C	G	107236385	3	3	90	1	0	0	0	0	1	0	0	0	1350	827	29	2	432	2	BCAP29	7	107236385	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	12355304	107236385	51902278	80	17473											
GPR85	54329	broad.mit.edu	37	chr7	112724579	112724579	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaattgcagatctgaggatAtctgaacagcaaagatccaa	17	8	8	8	0	2	4	0	2	2	2	3	5	3	5	1	1	3	2	1	1	5	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:112724579A>G	ENST00000501255.2	-	3	821	c.198T>C	c.(196-198)gaT>gaC	p.D66D	GPR85_ENST00000297146.2_Silent_p.D66D|GPR85_ENST00000424100.1_Silent_p.D66D|GPR85_ENST00000449591.1_Silent_p.D66D	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	66						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D66D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATCTGAGGATATCTGAACAGC	0.433													17	126					0	0	0	0	G	112724579	A	G	112724579	2	3	90	1	0	0	0	0	0	0	0	1	6764	446	16	5		5	GPR85	7	112724579	Silent	SNP	A	TCGA-CN-5374-01A-01D-1434-08	5488194	112724579	46414084	81	17474											
ASZ1	136991	broad.mit.edu	37	chr7	117067495	117067495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccagccactggcaggcctCgcagcgcgctcgccgccatg	5	4	13	19	6	0	0	0	0	0	0	2	0	0	0	5	2	2	3	5	2	0	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:117067495C>T	ENST00000284629.2	-	1	82	c.20G>A	c.(19-21)cGa>cAa	p.R7Q		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	7					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	p.R7Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TGGCAGGCCTCGCAGCGCGCT	0.697											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	10					0	0	0	0	T	117067495	C	T	117067495	3	4	90	1	0	0	0	0	1	0	0	0	1073	884	31	1	1459	1	ASZ1	7	117067495	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	4342916	117067495	42071168	82	17475											
CLCN1	1180	broad.mit.edu	37	chr7	143020477	143020477	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgttctgcggggtatatGaggtaaggttgagacagtga	9	12	16	4	1	1	3	0	3	1	1	1	4	1	3	0	4	1	4	0	4	3	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:143020477G>C	ENST00000343257.2	+	6	859	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	CLCN1_ENST00000495612.1_Intron	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	258					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)					CGGGGTATATGAGGTAAGGTT	0.607													5	86					0	0	0	0	C	143020477	G	C	143020477	3	2	90	1	0	0	0	0	1	0	0	0	3492	1291	45	2	794	2	CLCN1	7	143020477	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	25952982	143020477	16118186	83	17476											
GIMAP5	55340	broad.mit.edu	37	chr7	150439815	150439815	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggggctctgtggaggagcaGaggcagcagcaggcagagct	9	5	19	8	0	1	2	0	0	1	2	1	4	1	4	0	6	4	7	0	6	0	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:150439815G>C	ENST00000358647.3	+	3	955	c.588G>C	c.(586-588)caG>caC	p.Q196H	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAGGAGCAGAGGCAGCAGC	0.582													26	66					0	0	0	0	C	150439815	G	C	150439815	3	2	90	1	0	0	0	0	1	0	0	0	6433	933	33	2	594	2	GIMAP5	7	150439815	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	7419338	150439815	8698848	84	17477											
DLGAP2	9228	broad.mit.edu	37	chr8	1497551	1497551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgacagcacctatcggaCgcccagcgtgctcaaccggc	9	4	11	17	5	1	0	1	0	0	0	2	2	1	1	3	2	5	2	3	2	2	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:1497551C>T	ENST00000421627.2	+	2	826	c.692C>T	c.(691-693)aCg>aTg	p.T231M		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	310					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACCTATCGGACGCCCAGCGTG	0.687													13	97					0	0	0	0	T	1497551	C	T	1497551	3	4	90	1	0	0	0	0	1	0	0	0	4597	536	19	1	694	1	DLGAP2	8	1497551	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08		1497551	144866471	85	17478											
RP1L1	94137	broad.mit.edu	37	chr8	10464991	10465038	+	In_Frame_Del	DEL	TGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGC	TGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGC	-																															ctacaccttctaactctggtTgggcctccccttctgcctct																								rs75797924	by1000genomes	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:10464991_10465038delTGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGC	ENST00000382483.3	-	4	6793_6840	c.6570_6617delGCCAGAGTCAGAAGGTATAGAGGCCCCAGAGGCAGAAGGGGAGGCCCA	c.(6568-6618)caa>ca	p.QPESEGIEAPEAEGEAQ2190del		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2190					intracellular signal transduction			p.E2197D(1)		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)		TAACTCTGGTTGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGCTGGGCCTCCC	0.629													27	445	---	---	---	---					-	10465038	TGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGC	-	10464991	7	5	90	1	0	1	0	1	0	0	0	0	13618	1812	63	0	589	0	RP1L1	8	10464991	In_Frame_Del	DEL	TGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGC	TCGA-CN-5374-01A-01D-1434-08	8967440	10464991	135899031	86	17479											
RP1	6101	broad.mit.edu	37	chr8	55541429	55541429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgtccttataattctgtgGaatttcagtgttccaggaaa	10	17	8	6	0	2	0	1	0	1	0	4	2	4	2	2	2	0	1	2	2	4	6			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:55541429G>A	ENST00000220676.1	+	4	5135	c.4987G>A	c.(4987-4989)Gaa>Aaa	p.E1663K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1663					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E1663Q(1)|p.E1663K(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAATTCTGTGGAATTTCAGTG	0.388													74	225					0	0	0	0	A	55541429	G	A	55541429	3	1	90	1	0	0	0	0	1	0	0	0	13617	1175	41	2	4997	2	RP1	8	55541429	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	45076438	55541429	90822593	87	17480											
LRRCC1	85444	broad.mit.edu	37	chr8	86037161	86037161	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccaaagtcactcagaagAcaacacttaccaggtatgat	17	7	7	10	0	2	4	2	1	0	3	2	4	2	4	2	1	2	1	2	1	5	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:86037161A>C	ENST00000414626.2	+	7	2088	c.1199A>C	c.(1198-1200)gAc>gCc	p.D400A	LRRCC1_ENST00000360375.3_Missense_Mutation_p.D420A			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	420					cell division|mitosis	centriole|nucleus		p.D420A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CACTCAGAAGACAACACTTAC	0.299													36	89					0	0	0	0	C	86037161	A	C	86037161	3	2	90	1	0	0	0	0	1	0	0	0	9090	275	10	5	1289	5	LRRCC1	8	86037161	Missense_Mutation	SNP	A	TCGA-CN-5374-01A-01D-1434-08	30495732	86037161	60326861	88	17481											
CSMD3	114788	broad.mit.edu	37	chr8	113323263	113323263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccataggaagactttctgCacacagcactgctttttcca	11	11	6	13	0	1	1	0	0	1	1	2	2	2	2	2	1	3	3	2	1	2	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:113323263C>A	ENST00000297405.5	-	50	8073	c.7829G>T	c.(7828-7830)tGc>tTc	p.C2610F	CSMD3_ENST00000455883.2_Missense_Mutation_p.C2506F|CSMD3_ENST00000343508.3_Missense_Mutation_p.C2570F|CSMD3_ENST00000352409.3_Missense_Mutation_p.C2540F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2610	Sushi 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGACTTTCTGCACACAGCACT	0.463										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	141					5.3912e-06	5.65854e-06	1	0	A	113323263	C	A	113323263	3	1	90	1	0	0	0	0	1	0	0	0	3978	710	25	4	3382	4	CSMD3	8	113323263	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	27286102	113323263	33040759	89	17482											
ENPP2	5168	broad.mit.edu	37	chr8	120602836	120602836	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagttaggtaattactcaaGaactcagttctatcacatgt	13	15	6	7	0	4	1	3	0	1	1	4	1	4	1	0	1	2	3	0	1	7	6			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:120602836G>C	ENST00000427067.2	-	13	1284	c.1104C>G	c.(1102-1104)ttC>ttG	p.F368L	ENPP2_ENST00000259486.6_Missense_Mutation_p.F424L|ENPP2_ENST00000522826.1_Missense_Mutation_p.F372L|ENPP2_ENST00000075322.6_Missense_Mutation_p.F372L|ENPP2_ENST00000522167.1_Missense_Mutation_p.F11L			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	372					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATTACTCAAGAACTCAGTTC	0.353													3	86					0	0	0	0	C	120602836	G	C	120602836	3	2	90	1	0	0	0	0	1	0	0	0	5168	933	33	2	1606	2	ENPP2	8	120602836	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	7279573	120602836	25761186	90	17483											
FAM135B	51059	broad.mit.edu	37	chr8	139163666	139163666	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtccagagtaaaggtctCtgcagaagtcagatgggacc	11	8	13	9	0	2	3	1	0	1	3	4	4	3	4	2	2	1	3	2	2	3	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:139163666C>G	ENST00000395297.1	-	13	3222	c.3052G>C	c.(3052-3054)Gag>Cag	p.E1018Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1018								p.E1018Q(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTAAAGGTCTCTGCAGAAGTC	0.522										HNSCC(54;0.14)			31	51					0	0	0	0	G	139163666	C	G	139163666	3	3	90	1	0	0	0	0	1	0	0	0	5490	922	32	2	1200	2	FAM135B	8	139163666	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	18560830	139163666	7200356	91	17484											
KCNK9	51305	broad.mit.edu	37	chr8	140631107	140631107	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggagaaggcggccgccccGatgcacagcgtccccatgca	8	4	14	15	4	0	1	0	0	0	1	1	3	1	1	5	3	3	2	5	3	1	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:140631107G>A	ENST00000520439.1	-	2	582	c.519C>T	c.(517-519)atC>atT	p.I173I	KCNK9_ENST00000303015.1_Silent_p.I173I			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	173						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGGCCGCCCCGATGCACAGCG	0.562													12	69					0	0	0	0	A	140631107	G	A	140631107	2	1	90	1	0	0	0	0	0	0	0	1	8125	1048	37	1		1	KCNK9	8	140631107	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	1467441	140631107	5732915	92	17485											
TYRP1	7306	broad.mit.edu	37	chr9	12704633	12704633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacccatttgtctccaaatGatcctatttttgtcctcctg	9	16	4	12	0	1	1	0	1	1	0	5	1	4	1	5	0	1	0	5	0	3	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:12704633G>T	ENST00000388918.5	+	6	1318	c.1189G>T	c.(1189-1191)Gat>Tat	p.D397Y	TYRP1_ENST00000381137.2_Missense_Mutation_p.D106Y|TYRP1_ENST00000381136.2_Missense_Mutation_p.D107Y|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	397					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GTCTCCAAATGATCCTATTTT	0.443									Oculocutaneous Albinism				24	169					1.42536e-11	1.5406e-11	1	0	T	12704633	G	T	12704633	3	4	90	1	0	0	0	0	1	0	0	0	16912	1290	45	2	1207	2	TYRP1	9	12704633	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08		12704633	128508798	93	17486											
IARS	3376	broad.mit.edu	37	chr9	95050073	95050073	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaaaaacccaacatacCttccactcagcagaatatct	17	8	3	13	0	2	2	1	1	1	1	3	2	3	2	3	0	4	1	3	0	7	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:95050073C>T	ENST00000375643.3	-	4	662	c.396_splice	c.e4+1	p.K132_splice	IARS_ENST00000443024.2_Splice_Site_p.K132_splice|IARS_ENST00000447699.2_Splice_Site_p.K22_splice|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	132					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CCCAACATACCTTCCACTCAG	0.383													31	176					0	0	0	0	T	95050073	C	T	95050073	5	4	90	1	0	0	0	0	0	0	1	0	7526	695	24	4	3516	4	IARS	9	95050073	Splice_Site	SNP	C	TCGA-CN-5374-01A-01D-1434-08	82345440	95050073	46163358	94	17487											
IPPK	64768	broad.mit.edu	37	chr9	95405069	95405069	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggacagtatttgctgatCtgcttccacttcccagttgc	7	13	10	11	0	1	1	0	1	1	0	3	2	3	2	2	2	3	4	2	2	1	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:95405069C>T	ENST00000287996.3	-	7	804	c.528G>A	c.(526-528)caG>caA	p.Q176Q		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	176					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ATTTGCTGATCTGCTTCCACT	0.547													8	68					0	0	0	0	T	95405069	C	T	95405069	2	4	90	1	0	0	0	0	0	0	0	1	7854	912	32	2		2	IPPK	9	95405069	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	354996	95405069	45808362	95	17488											
TBC1D2	55357	broad.mit.edu	37	chr9	100971416	100971416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccgtcaggaagccgtactCatcatacttactgccagcaa	12	8	7	14	2	3	0	3	0	0	0	3	1	3	1	3	1	6	2	3	1	5	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:100971416C>T	ENST00000375066.5	-	9	1775	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	TBC1D2_ENST00000375063.1_Missense_Mutation_p.E102K|TBC1D2_ENST00000375064.1_Missense_Mutation_p.E562K|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.E344K	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	562						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AAGCCGTACTCATCATACTTA	0.577													63	342					0	0	0	0	T	100971416	C	T	100971416	3	4	90	1	0	0	0	0	1	0	0	0	15699	835	29	2	1089	2	TBC1D2	9	100971416	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	5566347	100971416	40242015	96	17489											
SVEP1	79987	broad.mit.edu	37	chr9	113220760	113220760	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgaacttgcctgactgctGatttcatgcctctttttaat	9	17	6	9	0	2	3	1	3	1	0	2	3	2	3	2	0	4	1	2	0	3	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:113220760G>A	ENST00000401783.2	-	20	3903	c.3567C>T	c.(3565-3567)atC>atT	p.I1189I	SVEP1_ENST00000374469.1_Silent_p.I1166I|SVEP1_ENST00000302728.8_Silent_p.I1189I|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1189					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTGACTGCTGATTTCATGCC	0.403													6	43					0	0	0	0	A	113220760	G	A	113220760	2	1	90	1	0	0	0	0	0	0	0	1	15510	1280	45	2		2	SVEP1	9	113220760	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	12249344	113220760	27992671	97	17490											
ZNF483	158399	broad.mit.edu	37	chr9	114304895	114304895	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaattgtggaaaatccttCagtcatagctcatccctttc	11	13	6	11	0	3	0	3	0	0	0	6	1	5	1	2	1	2	2	2	1	4	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:114304895C>T	ENST00000309235.5	+	6	1838	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	560					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GAAAATCCTTCAGTCATAGCT	0.408													16	140					0	0	0	0	T	114304895	C	T	114304895	2	4	90	1	0	0	0	0	0	0	0	1	18031	825	29	2		2	ZNF483	9	114304895	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	1084135	114304895	26908536	98	17491											
ZNF483	158399	broad.mit.edu	37	chr9	114304990	114304990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagcctttaggcagaattCatgccttacccggcatcaga	13	9	8	11	1	2	2	2	0	0	2	2	2	2	2	3	2	3	2	3	2	5	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:114304990C>T	ENST00000309235.5	+	6	1933	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	592					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AGGCAGAATTCATGCCTTACC	0.398													13	104					0	0	0	0	T	114304990	C	T	114304990	3	4	90	1	0	0	0	0	1	0	0	0	18031	838	29	2	1793	2	ZNF483	9	114304990	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	95	114304990	26908441	99	17492											
SNX30	401548	broad.mit.edu	37	chr9	115626607	115626607	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgacatggagaggtggcaGaacaacaagaggcaggactt	14	5	15	7	0	0	4	0	1	0	3	0	6	0	5	0	5	2	3	0	5	3	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:115626607G>A	ENST00000374232.3	+	8	1346	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	SNX30_ENST00000604751.1_3'UTR	NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	394					cell communication|protein transport	cytoplasm	phosphatidylinositol binding	p.Q394Q(1)		large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGAGGTGGCAGAACAACAAGA	0.512													16	77					0	0	0	0	A	115626607	G	A	115626607	2	1	90	1	0	0	0	0	0	0	0	1	14988	933	33	2		2	SNX30	9	115626607	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	1321617	115626607	25586824	100	17493											
RALGPS1	9649	broad.mit.edu	37	chr9	129975312	129975312	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacccagatatcttccagctGaacaaccctgacaaaggtag	14	7	7	13	0	1	3	0	2	1	1	2	3	2	3	3	1	3	2	3	1	5	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:129975312G>A	ENST00000259351.5	+	17	1803	c.1536G>A	c.(1534-1536)ctG>ctA	p.L512L	RALGPS1_ENST00000373434.1_Silent_p.L462L|RALGPS1_ENST00000424082.2_Silent_p.L470L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	512	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.L462L(1)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TCTTCCAGCTGAACAACCCTG	0.542													22	51					0	0	0	0	A	129975312	G	A	129975312	2	1	90	1	0	0	0	0	0	0	0	1	13099	1277	45	2		2	RALGPS1	9	129975312	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	14348705	129975312	11238119	101	17494											
SARDH	1757	broad.mit.edu	37	chr9	136578232	136578232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccccatcaggggcttgtggtCgggcgtgaaggattctgaaa	8	9	15	9	2	2	2	1	2	1	0	3	3	2	3	2	5	0	1	2	5	2	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:136578232C>G	ENST00000371872.4	-	9	1422	c.1165G>C	c.(1165-1167)Gac>Cac	p.D389H	SARDH_ENST00000439388.1_Missense_Mutation_p.D389H|SARDH_ENST00000422262.2_Missense_Mutation_p.D221H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	389					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGCTTGTGGTCGGGCGTGAAG	0.607													6	23					0	0	0	0	G	136578232	C	G	136578232	3	3	90	1	0	0	0	0	1	0	0	0	13927	884	31	3	1643	3	SARDH	9	136578232	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	6602920	136578232	4635199	102	17495											
BRD3	8019	broad.mit.edu	37	chr9	136906945	136906945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtccgagctgcctgagtcCgaagagctctcctcactgct	7	9	11	14	2	2	2	1	1	1	1	5	5	4	2	4	0	4	3	4	0	1	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:136906945C>T	ENST00000303407.7	-	8	1529	c.1344G>A	c.(1342-1344)tcG>tcA	p.S448S	BRD3_ENST00000371834.2_Silent_p.S448S|BRD3_ENST00000357885.2_Silent_p.S448S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	448						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGCCTGAGTCCGAAGAGCTCT	0.701			T	C15orf55	lethal midline carcinoma of young people								11	39					0	0	0	0	T	136906945	C	T	136906945	2	4	90	1	0	0	0	0	0	0	0	1	1511	639	23	1		1	BRD3	9	136906945	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	328713	136906945	4306486	103	17496											
SNAPC4	6621	broad.mit.edu	37	chr9	139273401	139273401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaagtgccaggtttggctgCcgcgggggccccaggcccag	6	5	17	13	2	0	1	0	0	0	1	0	1	0	1	5	5	2	2	5	5	1	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:139273401C>T	ENST00000298532.2	-	21	3246	c.2878G>A	c.(2878-2880)Gca>Aca	p.A960T		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	960	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGTTTGGCTGCCGCGGGGGCC	0.657													5	13					0	0	0	0	T	139273401	C	T	139273401	3	4	90	1	0	0	0	0	1	0	0	0	14925	739	26	4	1539	4	SNAPC4	9	139273401	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	2366456	139273401	1940030	104	17497											
GATA3	2625	broad.mit.edu	37	chr10	8115874	8115874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtcctccctgagccacatctCgcccttcagccactccagcc	6	8	6	21	1	2	1	1	1	1	0	6	1	5	1	7	0	3	0	7	0	0	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:8115874C>G	ENST00000379328.3	+	6	1791	c.1223C>G	c.(1222-1224)tCg>tGg	p.S408W	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.S407W	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	407					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.P409fs*>37(5)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGC	0.602			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						3	107					0	0	0	0	G	8115874	C	G	8115874	3	3	90	1	0	0	0	0	1	0	0	0	6304	893	31	3	1241	3	GATA3	10	8115874	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08		8115874	127418873	105	17498											
ARHGAP21	57584	broad.mit.edu	37	chr10	24884722	24884722	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcacattcaaatctcgccaTttctaggtgtacaaaataga	15	12	5	9	1	4	1	2	0	2	1	5	1	4	1	1	1	1	1	1	1	6	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:24884722T>C	ENST00000396432.2	-	19	4122	c.3636A>G	c.(3634-3636)aaA>aaG	p.K1212K	ARHGAP21_ENST00000320481.6_Silent_p.K999K	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1211	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AATCTCGCCATTTCTAGGTGT	0.353													17	71					0	0	0	0	C	24884722	T	C	24884722	2	2	90	1	0	0	0	0	0	0	0	1	873	1490	52	5		5	ARHGAP21	10	24884722	Silent	SNP	T	TCGA-CN-5374-01A-01D-1434-08	16768848	24884722	110650025	106	17499											
SLC18A3	6572	broad.mit.edu	37	chr10	50819671	50819671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacattgccgtggtggcCggcgcgctcaccacctgtaa	6	8	11	16	4	1	0	1	0	0	0	1	0	1	0	5	3	2	2	5	3	2	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:50819671C>T	ENST00000374115.3	+	1	1325	c.885C>T	c.(883-885)gcC>gcT	p.A295A	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	295					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.A295A(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCGTGGTGGCCGGCGCGCTCA	0.642													17	108					0	0	0	0	T	50819671	C	T	50819671	2	4	90	1	0	0	0	0	0	0	0	1	14515	639	23	1		1	SLC18A3	10	50819671	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	25934949	50819671	84715076	107	17500											
SGMS1	259230	broad.mit.edu	37	chr10	52071137	52071137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacctccagcaatgagcttCattattcttcgcagttgggc	8	12	8	13	1	2	1	1	1	1	0	4	1	3	1	3	1	2	4	3	1	2	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:52071137C>T	ENST00000361781.2	-	9	1739	c.780G>A	c.(778-780)atG>atA	p.M260I	SGMS1_ENST00000429490.1_Missense_Mutation_p.M91I	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	266					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CAATGAGCTTCATTATTCTTC	0.463													10	73					0	0	0	0	T	52071137	C	T	52071137	3	4	90	1	0	0	0	0	1	0	0	0	14301	826	29	2	473	2	SGMS1	10	52071137	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	1251466	52071137	83463610	108	17501											
VCL	7414	broad.mit.edu	37	chr10	75874638	75874638	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggccggaccaacatcaGtgatgaggagtctgagcagg	10	6	16	9	1	2	3	1	3	1	0	2	5	2	5	2	4	2	2	2	4	1	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:75874638G>C	ENST00000211998.4	+	21	3333	c.3239G>C	c.(3238-3240)aGt>aCt	p.S1080T	VCL_ENST00000417648.2_Missense_Mutation_p.S273T|VCL_ENST00000372755.3_Missense_Mutation_p.S1012T	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1080	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ACCAACATCAGTGATGAGGAG	0.483													2	7					0	0	0	0	C	75874638	G	C	75874638	3	2	90	1	0	0	0	0	1	0	0	0	17235	1029	36	4	3321	4	VCL	10	75874638	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	23803501	75874638	59660109	109	17502											
KIF11	3832	broad.mit.edu	37	chr10	94376578	94376578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagaaactcaccaaaaaaGctcttattaaggtaactgtg	17	10	6	8	0	3	1	2	0	1	1	3	1	3	1	1	1	3	2	1	1	7	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:94376578G>A	ENST00000260731.3	+	9	1207	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	373					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACCAAAAAAGCTCTTATTAA	0.323													16	89					0	0	0	0	A	94376578	G	A	94376578	3	1	90	1	0	0	0	0	1	0	0	0	8323	971	34	4	1151	4	KIF11	10	94376578	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	18501940	94376578	41158169	110	17503											
PYROXD2	84795	broad.mit.edu	37	chr10	100167372	100167372	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtgtaaatctgcggcctCagcaggctgagcaggtagga	10	8	14	9	1	3	1	2	1	1	0	3	2	3	2	1	4	3	5	1	4	3	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:100167372C>T	ENST00000370575.4	-	4	330	c.282G>A	c.(280-282)ctG>ctA	p.L94L	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	94							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TCTGCGGCCTCAGCAGGCTGA	0.607													6	45					0	0	0	0	T	100167372	C	T	100167372	2	4	90	1	0	0	0	0	0	0	0	1	12949	813	29	2		2	PYROXD2	10	100167372	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	5790794	100167372	35367375	111	17504											
ATRNL1	26033	broad.mit.edu	37	chr10	116889158	116889158	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgtctctgttccaagtcaAgtatattgtgaatgtgataa	12	15	9	5	0	2	2	1	2	1	0	4	2	3	2	1	0	0	2	1	0	6	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:116889158A>G	ENST00000355044.3	+	5	816	c.690A>G	c.(688-690)caA>caG	p.Q230Q	ATRNL1_ENST00000527407.1_Silent_p.Q230Q|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	230	EGF-like 2.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTCCAAGTCAAGTATATTGTG	0.373													6	115					0	0	0	0	G	116889158	A	G	116889158	2	3	90	1	0	0	0	0	0	0	0	1	1211	69	3	5		5	ATRNL1	10	116889158	Silent	SNP	A	TCGA-CN-5374-01A-01D-1434-08	16721786	116889158	18645589	112	17505											
C10orf82	143379	broad.mit.edu	37	chr10	118425270	118425270	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtgttttctcctggaaGgttttcacacagtggttcat	6	16	10	9	1	3	0	2	0	1	0	4	1	3	1	1	3	0	4	1	3	1	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:118425270G>T	ENST00000369210.3	-	3	177	c.123C>A	c.(121-123)acC>acA	p.T41T	C10orf82_ENST00000588184.1_Silent_p.T41T	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	41										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		TCTCCTGGAAGGTTTTCACAC	0.532													11	103					0.00136819	0.00139567	1	0	T	118425270	G	T	118425270	2	4	90	1	0	0	0	0	0	0	0	1	1630	987	35	4		4	C10orf82	10	118425270	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	1536112	118425270	17109477	113	17506											
IKZF5	64376	broad.mit.edu	37	chr10	124753991	124753991	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcttctgctatagcccaGattgcttgttttcttctgta	5	19	7	10	0	4	1	0	0	4	1	4	1	4	1	1	0	4	5	1	0	3	9			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:124753991G>A	ENST00000368886.5	-	5	885	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		CTATAGCCCAGATTGCTTGTT	0.413													43	279					0	0	0	0	A	124753991	G	A	124753991	2	1	90	1	0	0	0	0	0	0	0	1	7671	933	33	2		2	IKZF5	10	124753991	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	6328721	124753991	10780756	114	17507											
DCHS1	8642	broad.mit.edu	37	chr11	6643167	6643167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgggggacatggcagctGaggacagggagccttcatgg	9	6	18	8	0	1	1	1	1	0	0	1	4	1	4	1	6	3	3	1	6	0	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:6643167G>A	ENST00000299441.3	-	21	10151	c.9740C>T	c.(9739-9741)tCa>tTa	p.S3247L	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3247					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S3247L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGCAGCTGAGGACAGGGA	0.632													8	20					0	0	0	0	A	6643167	G	A	6643167	3	1	90	1	0	0	0	0	1	0	0	0	4319	1294	45	2	160	2	DCHS1	11	6643167	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08		6643167	128363349	115	17508											
NAV2	89797	broad.mit.edu	37	chr11	20067214	20067214	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctctcccacactccgCaggtaagtgagtacataaat	11	9	9	12	1	1	1	0	1	1	0	3	1	2	1	3	2	1	3	3	2	4	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:20067214C>A	ENST00000396085.1	+	14	4261	c.3900C>A	c.(3898-3900)cgC>cgA	p.R1300R	NAV2_ENST00000396087.3_Silent_p.R1323R|NAV2_ENST00000349880.4_Silent_p.R1300R|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000527559.2_Silent_p.R1252R|NAV2_ENST00000533917.1_Silent_p.R386R|NAV2_ENST00000540292.1_Silent_p.R1254R|NAV2_ENST00000311043.8_Silent_p.R386R|NAV2_ENST00000360655.4_Silent_p.R1236R	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1323						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCACACTCCGCAGGTAAGTGA	0.517													16	39					5.01169e-05	5.1958e-05	1	0	A	20067214	C	A	20067214	2	1	90	1	0	0	0	0	0	0	0	1	10254	697	25	4		4	NAV2	11	20067214	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	13424047	20067214	114939302	116	17509											
ANO3	63982	broad.mit.edu	37	chr11	26552873	26552873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccccttcagccgtgcaCggattcaccagtgagttccc	6	9	10	16	2	2	1	2	1	0	0	3	2	3	2	5	2	2	2	5	2	0	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:26552873C>T	ENST00000256737.3	+	8	1711	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	ANO3_ENST00000531568.1_Missense_Mutation_p.R141W|ANO3_ENST00000537978.1_Missense_Mutation_p.R271W|ANO3_ENST00000525139.1_Missense_Mutation_p.R271W	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	287						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAGCCGTGCACGGATTCACCA	0.453													4	180					0	0	0	0	T	26552873	C	T	26552873	3	4	90	1	0	0	0	0	1	0	0	0	697	527	19	1	889	1	ANO3	11	26552873	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	6485659	26552873	108453643	117	17510											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57080450	57080450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccctcagttgtaggcaggGgctcaaggggaacagctggg	8	7	17	9	0	2	0	2	0	0	0	2	1	2	1	1	6	3	5	1	6	3	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:57080450G>A	ENST00000532437.1	-	4	2023	c.1712C>T	c.(1711-1713)cCc>cTc	p.P571L	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P571L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	571	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGTAGGCAGGGGCTCAAGGGG	0.597													21	74					0	0	0	0	A	57080450	G	A	57080450	3	1	90	1	0	0	0	0	1	0	0	0	16414	1232	43	4	3505	4	TNKS1BP1	11	57080450	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	30527577	57080450	77926066	118	17511											
CCDC87	55231	broad.mit.edu	37	chr11	66358149	66358149	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagggaaaccaaagaagactCcattaagttgagcttcctgt	14	9	10	8	0	0	3	0	1	0	2	2	5	2	4	3	1	2	2	3	1	4	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:66358149C>G	ENST00000333861.3	-	1	2405	c.2338G>C	c.(2338-2340)Gag>Cag	p.E780Q		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	780										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAAGAAGACTCCATTAAGTTG	0.498													43	237					0	0	0	0	G	66358149	C	G	66358149	3	3	90	1	0	0	0	0	1	0	0	0	2889	864	30	2	215	2	CCDC87	11	66358149	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	9277699	66358149	68648367	119	17512											
CCDC87	55231	broad.mit.edu	37	chr11	66358638	66358638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccacaggaacctcttcttCatgcatttgaaagatgacat	12	12	6	11	0	3	3	1	2	2	1	4	4	4	4	2	1	2	1	2	1	2	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:66358638C>T	ENST00000333861.3	-	1	1916	c.1849G>A	c.(1849-1851)Gaa>Aaa	p.E617K		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	617										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACCTCTTCTTCATGCATTTGA	0.468													44	144					0	0	0	0	T	66358638	C	T	66358638	3	4	90	1	0	0	0	0	1	0	0	0	2889	835	29	2	704	2	CCDC87	11	66358638	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	489	66358638	68647878	120	17513											
PC	5091	broad.mit.edu	37	chr11	66619400	66619400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatacaggaagcgcatggCgacgtcaaacgtggctcctg	10	7	12	12	4	2	0	2	0	0	0	3	2	3	1	1	3	3	2	1	3	3	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:66619400C>T	ENST00000393960.1	-	16	2124	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T	PC_ENST00000393958.2_Missense_Mutation_p.A615T|PC_ENST00000393955.2_Missense_Mutation_p.A615T	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	615	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AAGCGCATGGCGACGTCAAAC	0.637													7	37					0	0	0	0	T	66619400	C	T	66619400	3	4	90	1	0	0	0	0	1	0	0	0	11568	768	27	1	1725	1	PC	11	66619400	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	260762	66619400	68387116	121	17514											
SUV420H1	51111	broad.mit.edu	37	chr11	67925239	67925239	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttttccaactattaacctCaagcgcttagctggaggaag	11	12	8	10	1	2	0	1	0	1	0	3	2	3	2	2	2	4	2	2	2	6	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:67925239C>G	ENST00000304363.4	-	11	2927	c.2574G>C	c.(2572-2574)ttG>ttC	p.L858F		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	858					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.L858F(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTATTAACCTCAAGCGCTTAG	0.403													17	73					0	0	0	0	G	67925239	C	G	67925239	3	3	90	1	0	0	0	0	1	0	0	0	15504	825	29	2	87	2	SUV420H1	11	67925239	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	1305839	67925239	67081277	122	17515											
FUT4	2526	broad.mit.edu	37	chr11	94278550	94278550	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggctttcgagaactcgcaGcacctggattatatcaccga	10	10	9	12	3	1	1	1	0	0	1	3	4	1	2	2	2	2	3	2	2	3	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:94278550G>A	ENST00000358752.2	+	1	1534	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	417					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	p.Q417H(1)		central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGAACTCGCAGCACCTGGATT	0.652													3	39					0	0	0	0	A	94278550	G	A	94278550	2	1	90	1	0	0	0	0	0	0	0	1	6154	962	34	4		4	FUT4	11	94278550	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	26353311	94278550	40727966	123	17516											
ZBTB16	7704	broad.mit.edu	37	chr11	114027138	114027138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagtttgcggctgagaatgCacttactggctcattcaggt	9	13	11	8	1	2	1	2	1	0	1	2	2	2	1	0	3	3	4	0	3	3	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:114027138C>T	ENST00000335953.4	+	3	1728	c.1348C>T	c.(1348-1350)Cac>Tac	p.H450Y	ZBTB16_ENST00000392996.2_Missense_Mutation_p.H450Y	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	450					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GCTGAGAATGCACTTACTGGC	0.547													8	51					0	0	0	0	T	114027138	C	T	114027138	3	4	90	1	0	0	0	0	1	0	0	0	17621	710	25	4	1354	4	ZBTB16	11	114027138	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	19748588	114027138	20979378	124	17517											
TECTA	7007	broad.mit.edu	37	chr11	120996298	120996298	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgtgtgtaccacgcagactgGaagtgcgactccggctgcgt	7	8	14	12	5	0	1	0	0	0	1	1	3	1	2	2	2	3	3	2	2	2	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:120996298G>C	ENST00000392793.1	+	8	1762	c.1491G>C	c.(1489-1491)tgG>tgC	p.W497C	TECTA_ENST00000264037.2_Missense_Mutation_p.W497C			O75443	TECTA_HUMAN	tectorin alpha	497	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGCAGACTGGAAGTGCGACT	0.587													30	96					0	0	0	0	C	120996298	G	C	120996298	3	2	90	1	0	0	0	0	1	0	0	0	15841	1183	41	2	1517	2	TECTA	11	120996298	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	6969160	120996298	14010218	125	17518											
NRIP2	83714	broad.mit.edu	37	chr12	2939891	2939891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccttgcagttgaccagaaGagctggaatctctgtcctgc	9	10	10	12	0	1	3	0	1	1	2	3	4	2	4	3	1	3	3	3	1	2	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:2939891G>A	ENST00000337508.4	-	2	518	c.478C>T	c.(478-480)Ctt>Ttt	p.L160F		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	160					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	p.L160F(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TTGACCAGAAGAGCTGGAATC	0.572													32	62					0	0	0	0	A	2939891	G	A	2939891	3	1	90	1	0	0	0	0	1	0	0	0	10724	942	33	2	387	2	NRIP2	12	2939891	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08		2939891	130912004	126	17519											
CLEC4C	170482	broad.mit.edu	37	chr12	7883477	7883477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccccagaaaataagaaGaatttcttttcagattctga	16	11	6	8	0	3	5	1	1	2	4	3	5	3	5	2	0	1	0	2	0	5	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:7883477G>T	ENST00000542353.1	-	6	903	c.413C>A	c.(412-414)tCt>tAt	p.S138Y	CLEC4C_ENST00000540085.1_Missense_Mutation_p.S107Y|CLEC4C_ENST00000354629.5_Missense_Mutation_p.S107Y|CLEC4C_ENST00000360345.3_Missense_Mutation_p.S138Y	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	138	C-type lectin.				innate immune response	integral to membrane	sugar binding	p.S138Y(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AAAATAAGAAGAATTTCTTTT	0.463													52	106					2.17126e-26	2.40829e-26	1	0	T	7883477	G	T	7883477	3	4	90	1	0	0	0	0	1	0	0	0	3543	942	33	2	236	2	CLEC4C	12	7883477	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	4943586	7883477	125968418	127	17520											
TMEM106C	79022	broad.mit.edu	37	chr12	48359698	48359698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttcctgtttccgcattCagtccttgtggatgatgacg	5	17	9	10	2	2	2	1	2	1	0	5	3	5	3	3	1	0	2	3	1	0	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:48359698C>T	ENST00000429772.2	+	4	442	c.329C>T	c.(328-330)tCa>tTa	p.S110L	TMEM106C_ENST00000552546.1_Missense_Mutation_p.S39L|TMEM106C_ENST00000449758.2_Missense_Mutation_p.S110L|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000256686.6_Missense_Mutation_p.S110L|TMEM106C_ENST00000550552.1_Missense_Mutation_p.S110L|TMEM106C_ENST00000552561.1_Missense_Mutation_p.S110L	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	110						endoplasmic reticulum membrane|integral to membrane		p.S110L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TTTCCGCATTCAGTCCTTGTG	0.448													200	368					0	0	0	0	T	48359698	C	T	48359698	3	4	90	1	0	0	0	0	1	0	0	0	16116	838	29	2	339	2	TMEM106C	12	48359698	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	40476221	48359698	85492197	128	17521											
COL2A1	1280	broad.mit.edu	37	chr12	48388219	48388219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtttacctgaggaccaggCggacccctttcaccagcttt	7	10	10	14	2	1	1	1	1	0	0	1	3	1	3	5	3	2	2	5	3	1	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:48388219C>T	ENST00000380518.3	-	12	968	c.804G>A	c.(802-804)ccG>ccA	p.P268P	COL2A1_ENST00000337299.6_Silent_p.P199P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	268	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.P199P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GAGGACCAGGCGGACCCCTTT	0.557													16	53					0	0	0	0	T	48388219	C	T	48388219	2	4	90	1	0	0	0	0	0	0	0	1	3717	755	27	1		1	COL2A1	12	48388219	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	28521	48388219	85463676	129	17522											
ANO4	121601	broad.mit.edu	37	chr12	101493406	101493406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacgacaagaacatggacCtgaaaggaaaataagtttcc	18	7	9	7	1	0	2	0	1	0	1	1	5	1	4	2	2	2	2	2	2	7	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:101493406C>A	ENST00000392979.3	+	21	2313	c.1952C>A	c.(1951-1953)cCt>cAt	p.P651H	ANO4_ENST00000550015.1_Missense_Mutation_p.P206H|ANO4_ENST00000392977.3_Missense_Mutation_p.P686H|ANO4_ENST00000299222.9_Missense_Mutation_p.P206H	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	686						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAACATGGACCTGAAAGGAAA	0.363										HNSCC(74;0.22)			48	84					2.13384e-23	2.3565e-23	1	0	A	101493406	C	A	101493406	3	1	90	1	0	0	0	0	1	0	0	0	698	681	24	4	2030	4	ANO4	12	101493406	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	53105187	101493406	32358489	130	17523											
NAA25	80018	broad.mit.edu	37	chr12	112492280	112492280	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccagcatacagtagattcGaacaagcagcaatttgaact	16	8	7	10	1	0	2	0	1	0	1	1	3	0	2	1	0	6	4	1	0	6	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:112492280G>A	ENST00000261745.4	-	14	1788	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	514						cytoplasm	protein binding	p.R514*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CAGTAGATTCGAACAAGCAGC	0.478													21	86					0	0	0	0	A	112492280	G	A	112492280	4	1	90	1	0	0	0	0	0	1	0	0	10191	1066	37	1	1422	1	NAA25	12	112492280	Nonsense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	10998874	112492280	21359615	131	17524											
OAS2	4939	broad.mit.edu	37	chr12	113445710	113445710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaactttgaagatgagacCgtgaggaagtttctactgag	13	11	11	6	1	1	5	0	4	1	2	1	7	1	6	1	1	3	1	1	1	5	4	rs45514594	byFrequency	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:113445710C>T	ENST00000392583.2	+	9	2064	c.1857C>T	c.(1855-1857)acC>acT	p.T619T	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.T619T	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	619	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAGATGAGACCGTGAGGAAGT	0.483													5	322					0	0	0	0	T	113445710	C	T	113445710	2	4	90	1	0	0	0	0	0	0	0	1	10871	639	23	1		1	OAS2	12	113445710	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	953430	113445710	20406185	132	17525											
GATC	283459	broad.mit.edu	37	chr12	120884532	120884532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtggacttcggcagccgcGaggcagtggcgcgactggag	6	7	18	10	5	0	0	0	0	0	0	1	4	0	2	1	5	1	2	1	5	0	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:120884532G>A	ENST00000551765.1	+	2	197	c.154G>A	c.(154-156)Gag>Aag	p.E52K	AL021546.6_ENST00000551806.1_Missense_Mutation_p.R83Q	NM_176818.2	NP_789788.1	O43716	GATCL_HUMAN	glutamyl-tRNA(Gln) amidotransferase, subunit C	52					regulation of translational fidelity			p.E52K(1)		breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGCAGCCGCGAGGCAGTGGC	0.672													16	38					0	0	0	0	A	120884532	G	A	120884532	3	1	90	1	0	0	0	0	1	0	0	0	6311	1059	37	1	160	1	GATC	12	120884532	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	7438822	120884532	12967363	133	17526											
GPR133	283383	broad.mit.edu	37	chr12	131593382	131593382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcaaggtctttgggtcGgaggacagcaagcaccgtta	10	9	14	8	2	2	1	1	1	1	0	3	3	2	3	1	4	2	3	1	4	3	2	rs60880996	byFrequency	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:131593382G>A	ENST00000261654.5	+	18	2560	c.2001G>A	c.(1999-2001)tcG>tcA	p.S667S	GPR133_ENST00000543617.1_Silent_p.S186S|GPR133_ENST00000376682.4_Silent_p.S353S|GPR133_ENST00000535015.1_Silent_p.S699S	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	667					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S667S(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTTGGGTCGGAGGACAGCA	0.607													73	141					0	0	0	0	A	131593382	G	A	131593382	2	1	90	1	0	0	0	0	0	0	0	1	6692	1103	39	1		1	GPR133	12	131593382	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	10708850	131593382	2258513	134	17527											
CARS2	79587	broad.mit.edu	37	chr13	111340150	111340150	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatattttcggttaccctCaggtacaccgtgggtgggag	8	11	14	8	2	1	0	1	0	0	0	2	2	1	2	2	5	2	2	2	5	4	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr13:111340150C>T	ENST00000257347.4	-	5	552	c.489G>A	c.(487-489)ctG>ctA	p.L163L	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	163					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CGGTTACCCTCAGGTACACCG	0.483													42	176					0	0	0	0	T	111340150	C	T	111340150	2	4	90	1	0	0	0	0	0	0	0	1	2683	813	29	2		2	CARS2	13	111340150	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08		111340150	3829728	135	17528											
OR4E2	26686	broad.mit.edu	37	chr14	22133750	22133750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctttgctctctggttggggGgtactgttcactcactaggg	4	15	13	9	0	4	0	2	0	2	0	5	0	4	0	0	5	2	4	0	5	2	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr14:22133750G>A	ENST00000408935.1	+	1	454	c.454G>A	c.(454-456)Ggt>Agt	p.G152S		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CTGGTTGGGGGGTACTGTTCA	0.478													35	219					0	0	0	0	A	22133750	G	A	22133750	3	1	90	1	0	0	0	0	1	0	0	0	11131	1232	43	4	456	4	OR4E2	14	22133750	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08		22133750	85215790	136	17529											
PRMT5	10419	broad.mit.edu	37	chr14	23395383	23395383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctggtgcatcttagaaaGaacaggaaatcccttcttat	12	12	7	10	0	3	2	0	0	3	2	4	3	4	3	2	2	2	1	2	2	5	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr14:23395383G>A	ENST00000324366.8	-	7	959	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F	PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.L202F|PRMT5_ENST00000397441.2_Missense_Mutation_p.L229F|PRMT5_ENST00000216350.8_Missense_Mutation_p.L185F|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000538452.1_Missense_Mutation_p.L140F|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000595662.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	246					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	p.L246F(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ATCTTAGAAAGAACAGGAAAT	0.478													49	133					0	0	0	0	A	23395383	G	A	23395383	3	1	90	1	0	0	0	0	1	0	0	0	12619	942	33	2	1221	2	PRMT5	14	23395383	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	1261633	23395383	83954157	137	17530											
MYH6	4624	broad.mit.edu	37	chr14	23858700	23858700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattagcgcctccttttcctCtagctgccgggccaactctc	5	12	8	16	2	2	0	0	0	2	0	5	1	4	0	5	1	4	1	5	1	3	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr14:23858700C>T	ENST00000405093.3	-	28	3950	c.3880G>A	c.(3880-3882)Gag>Aag	p.E1294K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1294K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1294					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTTTTCCTCTAGCTGCCGG	0.587													9	159					0	0	0	0	T	23858700	C	T	23858700	3	4	90	1	0	0	0	0	1	0	0	0	10108	922	32	2	1987	2	MYH6	14	23858700	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	463317	23858700	83490840	138	17531											
CMA1	1215	broad.mit.edu	37	chr14	24976609	24976609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acaaagttccgtcttataagGaaaccaccacaaaattttga	17	10	5	9	1	1	1	0	1	1	0	2	2	2	2	3	1	1	1	3	1	6	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr14:24976609G>C	ENST00000250378.3	-	2	191	c.162C>G	c.(160-162)ttC>ttG	p.F54L	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	54	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GTCTTATAAGGAAACCACCAC	0.483													58	273					0	0	0	0	C	24976609	G	C	24976609	3	2	90	1	0	0	0	0	1	0	0	0	3604	1165	41	2	597	2	CMA1	14	24976609	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	1117909	24976609	82372931	139	17532											
ACTC1	70	broad.mit.edu	37	chr15	35086908	35086908	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgggcggcccacgatggaCgggaagacagcgcggggcgc	7	1	20	13	8	0	1	0	0	0	1	0	4	0	3	1	6	1	0	1	6	1	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:35086908C>A	ENST00000290378.4	-	2	757	c.102G>T	c.(100-102)ccG>ccT	p.P34P	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	34					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	p.P34P(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCACGATGGACGGGAAGACAG	0.682													20	82					3.51602e-12	3.81653e-12	1	0	A	35086908	C	A	35086908	2	1	90	1	0	0	0	0	0	0	0	1	195	523	19	3		3	ACTC1	15	35086908	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08		35086908	67444484	140	17533											
DUOX1	53905	broad.mit.edu	37	chr15	45426426	45426426	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccacctgcccaaccccCgagaccttagcaacaccatc	12	4	4	21	1	0	1	0	0	0	1	1	2	0	1	8	0	5	1	8	0	4	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:45426426C>T	ENST00000321429.4	+	5	633	c.226C>T	c.(226-228)Cga>Tga	p.R76*	DUOX1_ENST00000389037.3_Nonsense_Mutation_p.R76*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	76	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.R76G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCCAACCCCCGAGACCTTAG	0.627													18	144					0	0	0	0	T	45426426	C	T	45426426	4	4	90	1	0	0	0	0	0	1	0	0	4836	644	23	1	236	1	DUOX1	15	45426426	Nonsense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	10339518	45426426	57104966	141	17534											
UNC13C	440279	broad.mit.edu	37	chr15	54306794	54306794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttactcagaagatttttCagaaaatcagtttttcacta	13	16	5	7	0	5	3	4	0	1	3	5	3	5	3	0	0	1	1	0	0	5	6			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:54306794C>T	ENST00000545554.1	+	1	1694	c.1694C>T	c.(1693-1695)tCa>tTa	p.S565L	UNC13C_ENST00000260323.11_Missense_Mutation_p.S565L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S565L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	565					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAGATTTTTCAGAAAATCAG	0.423													9	74					0	0	0	0	T	54306794	C	T	54306794	3	4	90	1	0	0	0	0	1	0	0	0	17082	838	29	2	1696	2	UNC13C	15	54306794	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	8880368	54306794	48224598	142	17535											
AAGAB	79719	broad.mit.edu	37	chr15	67528335	67528335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accatcctcctcaggcaactCctctggactaagttctacca	10	10	5	16	0	3	0	1	0	2	0	6	1	6	1	5	2	2	2	5	2	3	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:67528335C>T	ENST00000261880.5	-	4	537	c.433G>A	c.(433-435)Gag>Aag	p.E145K	AAGAB_ENST00000561452.1_Missense_Mutation_p.E36K|AAGAB_ENST00000542650.1_Missense_Mutation_p.E36K	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	145					protein transport	cytoplasm				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TCAGGCAACTCCTCTGGACTA	0.353													40	236					0	0	0	0	T	67528335	C	T	67528335	3	4	90	1	0	0	0	0	1	0	0	0	15	864	30	2	542	2	AAGAB	15	67528335	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	13221541	67528335	35003057	143	17536											
MEX3B	84206	broad.mit.edu	37	chr15	82336383	82336383	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagagaaaggcttgcggccGggggtgggcgtgatgctggg	6	7	21	7	3	0	2	0	1	0	1	0	3	0	2	1	6	2	2	1	6	2	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:82336383G>A	ENST00000329713.4	-	2	1263	c.828C>T	c.(826-828)ccC>ccT	p.P276P	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	276					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GCTTGCGGCCGGGGGTGGGCG	0.662													10	46					0	0	0	0	A	82336383	G	A	82336383	2	1	90	1	0	0	0	0	0	0	0	1	9579	1103	39	1		1	MEX3B	15	82336383	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	14808048	82336383	20195009	144	17537											
ALPK3	57538	broad.mit.edu	37	chr15	85400161	85400161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaagaggtggcaaccaGcctcggcccaccatccagaa	12	4	11	14	1	0	3	0	1	0	2	2	3	1	3	5	3	3	2	5	3	3	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:85400161G>A	ENST00000258888.5	+	6	2965	c.2798G>A	c.(2797-2799)aGc>aAc	p.S933N		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	933					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTGGCAACCAGCCTCGGCCCA	0.582													27	158					0	0	0	0	A	85400161	G	A	85400161	3	1	90	1	0	0	0	0	1	0	0	0	546	971	34	4	2820	4	ALPK3	15	85400161	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	3063778	85400161	17131231	145	17538											
HAGH	3029	broad.mit.edu	37	chr16	1859322	1859322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactggtccttctccctgcGcacggcccgcatggtggtca	5	9	12	15	3	2	0	1	0	1	0	4	1	3	0	3	4	2	2	3	4	1	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:1859322G>A	ENST00000397356.3	-	9	1295	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	HAGH_ENST00000455446.2_3'UTR|HAGH_ENST00000397353.2_Missense_Mutation_p.R249C|HAGH_ENST00000567398.1_5'UTR|HAGH_ENST00000566709.1_3'UTR	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	297	Substrate.				glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TTCTCCCTGCGCACGGCCCGC	0.652													7	269					0	0	0	0	A	1859322	G	A	1859322	3	1	90	1	0	0	0	0	1	0	0	0	6995	1087	38	1	41	1	HAGH	16	1859322	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08		1859322	88495431	146	17539											
PKMYT1	9088	broad.mit.edu	37	chr16	3024073	3024073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggtggtgagccaggcGgggtggctggcgggcccagg	4	5	23	9	2	0	1	0	1	0	0	0	1	0	1	2	9	2	2	2	9	0	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:3024073G>T	ENST00000431515.2	-	7	1623	c.1238C>A	c.(1237-1239)cCg>cAg	p.P413Q	PKMYT1_ENST00000262300.8_Missense_Mutation_p.P413Q|PKMYT1_ENST00000574730.1_Missense_Mutation_p.P344Q|PKMYT1_ENST00000574385.1_Missense_Mutation_p.P404Q|PKMYT1_ENST00000440027.2_Missense_Mutation_p.P413Q|PKMYT1_ENST00000573944.1_Missense_Mutation_p.P404Q			Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	413	Interaction with PIN1.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGAGCCAGGCGGGGTGGCTGG	0.677													5	28					1.23904e-05	1.28982e-05	1	0	T	3024073	G	T	3024073	3	4	90	1	0	0	0	0	1	0	0	0	12050	1116	39	3	311	3	PKMYT1	16	3024073	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	1164751	3024073	87330680	147	17540											
MEFV	4210	broad.mit.edu	37	chr16	3293683	3293683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagcggtttctgcatccaGaatcacattaactgcaaaga	14	10	8	9	1	2	2	1	0	1	2	3	2	3	2	1	1	4	4	1	1	4	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:3293683G>T	ENST00000219596.1	-	10	1843	c.1804C>A	c.(1804-1806)Ctg>Atg	p.L602M	MEFV_ENST00000536379.1_Missense_Mutation_p.L391M|MEFV_ENST00000339854.4_Missense_Mutation_p.L422M|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	602	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TCTGCATCCAGAATCACATTA	0.498													64	375					5.82089e-37	6.51324e-37	1	0	T	3293683	G	T	3293683	3	4	90	1	0	0	0	0	1	0	0	0	9528	933	33	2	545	2	MEFV	16	3293683	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	269610	3293683	87061070	148	17541											
KIAA0430	9665	broad.mit.edu	37	chr16	15733071	15733071	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctactgcaggagttctcaGttccgtttccttccatcata	7	16	6	12	1	3	0	2	0	2	0	7	1	6	1	3	1	2	4	3	1	2	7			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:15733071G>T	ENST00000344181.3	-	0	212				KIAA0430_ENST00000551742.1_Missense_Mutation_p.T7N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.T7N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.T7N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.T7N|KIAA0430_ENST00000396368.3_Missense_Mutation_p.T7N			Q9Y4F3	LKAP_HUMAN	KIAA0430							peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGAGTTCTCAGTTCCGTTTCC	0.408													5	269					0.000602214	0.000619281	1	0	T	15733071	G	T	15733071	1	4	90	1	0	0	0	0	0	0	0	0	8228	1029	36	4		4	KIAA0430	16	15733071	Translation_Start_Site	SNP	G	TCGA-CN-5374-01A-01D-1434-08	12439388	15733071	74621682	149	17542											
CYLD	1540	broad.mit.edu	37	chr16	50788321	50788321	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaattctattgcacatcaAtgatatcatcccaggtatgt	13	14	5	9	0	3	1	2	1	1	0	4	1	4	1	1	1	2	2	1	1	6	6			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:50788321A>G	ENST00000540145.1	+	6	1314	c.899A>G	c.(898-900)aAt>aGt	p.N300S	CYLD_ENST00000569418.1_Missense_Mutation_p.N300S|CYLD_ENST00000311559.9_Missense_Mutation_p.N300S|CYLD_ENST00000427738.3_Missense_Mutation_p.N300S|CYLD_ENST00000568704.2_Missense_Mutation_p.N300S|CYLD_ENST00000566206.1_Missense_Mutation_p.N300S|CYLD_ENST00000564326.1_Missense_Mutation_p.N300S|CYLD_ENST00000398568.2_Missense_Mutation_p.N300S			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	300	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TTGCACATCAATGATATCATC	0.308			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				8	51					0	0	0	0	G	50788321	A	G	50788321	3	3	90	1	0	0	0	0	1	0	0	0	4175	101	4	5	909	5	CYLD	16	50788321	Missense_Mutation	SNP	A	TCGA-CN-5374-01A-01D-1434-08	35055250	50788321	39566432	150	17543											
CHD9	80205	broad.mit.edu	37	chr16	53243560	53243560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagcaaaagcaaaggagcGtggggaacgcaatattccac	16	5	11	9	2	0	0	0	0	0	0	1	2	1	2	1	3	4	3	1	3	7	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:53243560G>A	ENST00000566029.1	+	3	1828	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	CHD9_ENST00000564845.1_Missense_Mutation_p.R540H|CHD9_ENST00000447540.1_Missense_Mutation_p.R540H|CHD9_ENST00000398510.3_Missense_Mutation_p.R540H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	540					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCAAAGGAGCGTGGGGAACGC	0.418													29	90					0	0	0	0	A	53243560	G	A	53243560	3	1	90	1	0	0	0	0	1	0	0	0	3361	1145	40	1	1625	1	CHD9	16	53243560	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	2455239	53243560	37111193	151	17544											
KCTD19	146212	broad.mit.edu	37	chr16	67325248	67325248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggagaccaccttggctgtGatggctttggggtccttttg	5	13	15	8	0	0	2	0	1	0	1	1	3	1	2	3	5	0	2	3	5	0	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:67325248G>A	ENST00000304372.5	-	14	2584	c.2529C>T	c.(2527-2529)atC>atT	p.I843I		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	843						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCTTGGCTGTGATGGCTTTGG	0.557													9	63					0	0	0	0	A	67325248	G	A	67325248	2	1	90	1	0	0	0	0	0	0	0	1	8159	1280	45	2		2	KCTD19	16	67325248	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	14081688	67325248	23029505	152	17545											
HYDIN	54768	broad.mit.edu	37	chr16	70902676	70902676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatgtccttggcacacccagGgtggaggtggcccatctagg	7	9	14	11	0	1	0	0	0	1	0	2	1	2	1	3	6	0	1	3	6	2	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:70902676G>A	ENST00000393567.2	-	66	11257	c.11107C>T	c.(11107-11109)Cct>Tct	p.P3703S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3703										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCACACCCAGGGTGGAGGTGG	0.463													13	33					0	0	0	0	A	70902676	G	A	70902676	3	1	90	1	0	0	0	0	1	0	0	0	7520	1232	43	4	4342	4	HYDIN	16	70902676	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	3577428	70902676	19452077	153	17546											
CHST6	4166	broad.mit.edu	37	chr16	75512869	75512869	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccagtgaaggcgtagagCgcacggatttctgccagcgg	9	6	15	11	4	1	2	0	1	1	1	1	3	1	3	2	3	4	2	2	3	2	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:75512869C>T	ENST00000332272.4	-	3	1037	c.858G>A	c.(856-858)gcG>gcA	p.A286A	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.A286A	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	286					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGCGTAGAGCGCACGGATTT	0.672													8	64					0	0	0	0	T	75512869	C	T	75512869	2	4	90	1	0	0	0	0	0	0	0	1	3437	755	27	1		1	CHST6	16	75512869	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	4610193	75512869	14841884	154	17547											
TAF1C	9013	broad.mit.edu	37	chr16	84214952	84214952	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgagtgtccagcatcttCactccggtgcggtcacccac	7	9	9	16	2	3	1	2	1	1	0	5	1	5	1	4	2	2	1	4	2	0	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:84214952C>T	ENST00000567759.1	-	10	1406	c.1224G>A	c.(1222-1224)gtG>gtA	p.V408V	TAF1C_ENST00000541676.1_Silent_p.V315V|TAF1C_ENST00000341690.6_Silent_p.V315V|TAF1C_ENST00000566732.1_Silent_p.V382V|TAF1C_ENST00000570117.1_Silent_p.V76V|TAF1C_ENST00000378541.4_Silent_p.V408V	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	408					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CCAGCATCTTCACTCCGGTGC	0.697													19	29					0	0	0	0	T	84214952	C	T	84214952	2	4	90	1	0	0	0	0	0	0	0	1	15612	813	29	2		2	TAF1C	16	84214952	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	8702083	84214952	6139801	155	17548											
DHX33	56919	broad.mit.edu	37	chr17	5353646	5353646	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccgggaaggagggttgtgGaggacgctgtccacagacag	9	5	18	9	3	0	1	0	0	0	1	1	5	1	5	2	5	0	2	2	5	1	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:5353646G>T	ENST00000225296.3	-	10	1805	c.1605C>A	c.(1603-1605)ctC>ctA	p.L535L	DHX33_ENST00000433302.3_Silent_p.L311L	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	535						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAGGGTTGTGGAGGACGCTGT	0.522													8	294					2.74318e-10	2.9276e-10	1	0	T	5353646	G	T	5353646	2	4	90	1	0	0	0	0	0	0	0	1	4543	1161	41	2		2	DHX33	17	5353646	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08		5353646	75841564	156	17549											
DHX33	56919	broad.mit.edu	37	chr17	5364405	5364405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagagaacaggtccacatCcatcgtagctgacatcacaa	14	7	8	12	1	1	3	1	2	0	1	4	4	3	3	2	1	2	2	2	1	3	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:5364405C>A	ENST00000225296.3	-	4	903	c.703G>T	c.(703-705)Gat>Tat	p.D235Y	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	235	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGTCCACATCCATCGTAGCT	0.517													36	185					1.90571e-15	2.07747e-15	1	0	A	5364405	C	A	5364405	3	1	90	1	0	0	0	0	1	0	0	0	4543	855	30	2	1456	2	DHX33	17	5364405	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	10759	5364405	75830805	157	17550											
KCTD11	147040	broad.mit.edu	37	chr17	7256895	7256895	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgagcacggcttccgactaGactctgtcttccccgacccc	6	9	8	18	4	2	1	0	0	2	1	5	4	4	1	5	1	1	2	5	1	1	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:7256895G>C	ENST00000333751.3	+	1	1688	c.634G>C	c.(634-636)Gac>Cac	p.D212H	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	212					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CTTCCGACTAGACTCTGTCTT	0.642													4	65					0	0	0	0	C	7256895	G	C	7256895	3	2	90	1	0	0	0	0	1	0	0	0	8151	942	33	2	636	2	KCTD11	17	7256895	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	1892490	7256895	73938315	158	17551											
TEKT3	64518	broad.mit.edu	37	chr17	15217494	15217494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtcgatccggtaagccGtctgtttgtcactcaggtcc	5	13	11	12	4	3	0	2	0	1	0	7	1	5	0	3	2	1	2	3	2	1	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:15217494G>A	ENST00000395930.1	-	6	974	c.788C>T	c.(787-789)aCg>aTg	p.T263M	TEKT3_ENST00000338696.2_Missense_Mutation_p.T263M	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	263					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CCGGTAAGCCGTCTGTTTGTC	0.557													11	64					0	0	0	0	A	15217494	G	A	15217494	3	1	90	1	0	0	0	0	1	0	0	0	15848	1145	40	1	700	1	TEKT3	17	15217494	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	7960599	15217494	65977716	159	17552											
RAI1	10743	broad.mit.edu	37	chr17	17701461	17701461	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacctgtgaggaggcctcGctgccgcttgagagaacact	8	7	14	12	2	0	3	0	2	0	1	1	5	0	4	3	3	2	3	3	3	1	1	rs146112263	byFrequency	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:17701461G>A	ENST00000353383.1	+	3	5668	c.5199G>A	c.(5197-5199)tcG>tcA	p.S1733S	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1733						cytoplasm|nucleus	zinc ion binding	p.S1733S(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGGAGGCCTCGCTGCCGCTTG	0.642													10	49					0	0	0	0	A	17701461	G	A	17701461	2	1	90	1	0	0	0	0	0	0	0	1	13089	1074	38	1		1	RAI1	17	17701461	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	2483967	17701461	63493749	160	17553											
PTRH2	51651	broad.mit.edu	37	chr17	57775025	57775025	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacagtattcccattgtttGagcatttcaggatttcttct	8	17	6	10	0	3	1	1	1	2	0	4	2	4	2	2	1	1	3	2	1	1	7			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:57775025G>C	ENST00000470557.2	-	1	3761	c.315C>G	c.(313-315)ctC>ctG	p.L105L	PTRH2_ENST00000537860.1_Silent_p.L105L|PTRH2_ENST00000393038.2_Silent_p.L105L|PTRH2_ENST00000409433.2_Silent_p.L106L			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	105					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCCATTGTTTGAGCATTTCAG	0.463													11	242					0	0	0	0	C	57775025	G	C	57775025	2	2	90	1	0	0	0	0	0	0	0	1	12899	1277	45	2		2	PTRH2	17	57775025	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	40073564	57775025	23420185	161	17554											
COG1	9382	broad.mit.edu	37	chr17	71193179	71193179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagacttcctgctggccaGaaaggcaactattcagaaac	14	7	8	12	0	1	3	1	0	0	3	2	3	2	3	2	2	3	2	2	2	4	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:71193179G>A	ENST00000299886.4	+	3	781	c.701G>A	c.(700-702)aGa>aAa	p.R234K		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	234					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CTGCTGGCCAGAAAGGCAACT	0.522													6	54					0	0	0	0	A	71193179	G	A	71193179	3	1	90	1	0	0	0	0	1	0	0	0	3687	942	33	2	711	2	COG1	17	71193179	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	13418154	71193179	10002031	162	17555											
BAHCC1	57597	broad.mit.edu	37	chr17	79428095	79428095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagaagctgcgggcccgcGaggccctgttccccgtgcac	6	5	14	16	4	0	1	0	0	0	1	1	2	1	1	4	2	3	4	4	2	2	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:79428095G>A	ENST00000307745.7	+	30	6406	c.6406G>A	c.(6406-6408)Gag>Aag	p.E2136K	RP11-1055B8.8_ENST00000572590.1_RNA														p.E2136K(1)									GCGGGCCCGCGAGGCCCTGTT	0.682													4	18					0	0	0	0	A	79428095	G	A	79428095	3	1	90	1	0	0	0	0	1	0	0	0	1300	1059	37	1	6339	1	BAHCC1	17	79428095	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	8234916	79428095	1767115	163	17556											
MC2R	4158	broad.mit.edu	37	chr18	13885287	13885287	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaggatattttccaagatCttatataggctgcccagcat	12	13	7	9	0	2	1	1	0	1	1	3	2	3	2	2	2	2	2	2	2	5	6			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr18:13885287C>T	ENST00000327606.3	-	2	411	c.231G>A	c.(229-231)aaG>aaA	p.K77K		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	77					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TTTCCAAGATCTTATATAGGC	0.448													6	108					0	0	0	0	T	13885287	C	T	13885287	2	4	90	1	0	0	0	0	0	0	0	1	9433	912	32	2		2	MC2R	18	13885287	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08		13885287	64191961	164	17557											
CDH19	28513	broad.mit.edu	37	chr18	64239324	64239324	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagccacgcttcactcTcaaatgagatcgcactggct	10	8	7	16	2	2	1	2	1	1	1	4	2	2	1	2	1	1	3	2	1	1	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr18:64239324T>A	ENST00000262150.2	-	2	410	c.118A>T	c.(118-120)Aga>Tga	p.R40*	CDH19_ENST00000540086.1_Nonsense_Mutation_p.R40*	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	40					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CGCTTCACTCTCAAATGAGAT	0.423													20	113					0	0	0	0	A	64239324	T	A	64239324	4	1	90	1	0	0	0	0	0	1	0	0	3133	1559	54	5	2244	5	CDH19	18	64239324	Nonsense_Mutation	SNP	T	TCGA-CN-5374-01A-01D-1434-08	50354037	64239324	13837924	165	17558											
TMPRSS9	360200	broad.mit.edu	37	chr19	2408478	2408478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgtacaacgcggacacgGccgactttgacgtggctgtg	7	8	13	13	5	0	1	0	1	0	0	0	3	0	2	2	3	2	2	2	3	2	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:2408478G>A	ENST00000332578.3	+	7	865	c.865G>A	c.(865-867)Gcc>Acc	p.A289T		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	289	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CGCGGACACGGCCGACTTTGA	0.677													4	162					0	0	0	0	A	2408478	G	A	2408478	3	1	90	1	0	0	0	0	1	0	0	0	16347	1203	42	4	891	4	TMPRSS9	19	2408478	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08		2408478	56720505	166	17559											
FBN3	84467	broad.mit.edu	37	chr19	8156457	8156457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggcagaggttgggctcctCtgagcactcgtcgatatctg	7	10	14	10	2	2	2	0	1	2	1	5	4	3	2	1	3	1	4	1	3	1	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:8156457C>G	ENST00000600128.1	-	48	6337	c.5923G>C	c.(5923-5925)Gag>Cag	p.E1975Q	FBN3_ENST00000601739.1_Missense_Mutation_p.E1975Q|FBN3_ENST00000270509.2_Missense_Mutation_p.E1975Q			Q75N90	FBN3_HUMAN	fibrillin 3	1975	EGF-like 32; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTGGGCTCCTCTGAGCACTCG	0.602													16	95					0	0	0	0	G	8156457	C	G	8156457	3	3	90	1	0	0	0	0	1	0	0	0	5749	922	32	2	2574	2	FBN3	19	8156457	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	5747979	8156457	50972526	167	17560											
MUC16	94025	broad.mit.edu	37	chr19	9067136	9067136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctgagtgtggaaattcCtgagtcgccatcgagtgtgt	8	14	12	7	2	1	2	0	2	1	0	4	4	2	3	2	1	0	0	2	1	1	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:9067136C>T	ENST00000397910.4	-	3	20513	c.20310G>A	c.(20308-20310)caG>caA	p.Q6770Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6772	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q6770Q(1)|p.Q2403Q(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGAAATTCCTGAGTCGCCA	0.488													125	201					0	0	0	0	T	9067136	C	T	9067136	2	4	90	1	0	0	0	0	0	0	0	1	10043	680	24	4		4	MUC16	19	9067136	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	910679	9067136	50061847	168	17561											
MUC16	94025	broad.mit.edu	37	chr19	9076191	9076191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtggccccctgaggagctGaggtagtggctgtggctgat	5	11	17	8	0	0	3	0	3	0	0	0	4	0	4	2	5	1	4	2	5	1	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:9076191G>A	ENST00000397910.4	-	3	11458	c.11255C>T	c.(11254-11256)tCa>tTa	p.S3752L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3753	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S3752L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAGGAGCTGAGGTAGTGGC	0.522													34	66					0	0	0	0	A	9076191	G	A	9076191	3	1	90	1	0	0	0	0	1	0	0	0	10043	1294	45	2	32596	2	MUC16	19	9076191	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	9055	9076191	50052792	169	17562											
WIZ	58525	broad.mit.edu	37	chr19	15547866	15547866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcgtggctggagaggcCggcccgtgtgtcgaagccag	5	5	19	12	5	0	1	0	0	0	1	1	3	0	1	4	5	1	1	4	5	1	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:15547866C>T	ENST00000389282.4	-	4	2560	c.2347G>A	c.(2347-2349)Ggc>Agc	p.G783S	WIZ_ENST00000263381.6_Missense_Mutation_p.G94S|WIZ_ENST00000595214.2_5'UTR			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	783						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTGGAGAGGCCGGCCCGTGTG	0.632													6	25					0	0	0	0	T	15547866	C	T	15547866	3	4	90	1	0	0	0	0	1	0	0	0	17471	652	23	1	2128	1	WIZ	19	15547866	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	6471675	15547866	43581117	170	17563											
HAUS8	93323	broad.mit.edu	37	chr19	17173586	17173586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgtgacccatctcctgcagGagcctgttatgggaacacat	9	10	10	12	0	1	1	0	1	1	0	2	3	1	3	3	2	3	2	3	2	2	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:17173586G>A	ENST00000253669.5	-	4	341	c.151C>T	c.(151-153)Cct>Tct	p.P51S	HAUS8_ENST00000593360.1_5'UTR|HAUS8_ENST00000448593.2_Missense_Mutation_p.P51S			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	51					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TCTCCTGCAGGAGCCTGTTAT	0.532													13	88					0	0	0	0	A	17173586	G	A	17173586	3	1	90	1	0	0	0	0	1	0	0	0	7022	1174	41	2	1113	2	HAUS8	19	17173586	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	1625720	17173586	41955397	171	17564											
ZNF430	80264	broad.mit.edu	37	chr19	21240159	21240159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaccctacaaatgtgaaGaatgtggcaaagcttttaac	17	9	8	7	0	0	3	0	1	0	2	0	3	0	3	1	1	4	2	1	1	7	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:21240159G>A	ENST00000261560.5	+	5	1226	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E349K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						CAAATGTGAAGAATGTGGCAA	0.393													56	98					0	0	0	0	A	21240159	G	A	21240159	3	1	90	1	0	0	0	0	1	0	0	0	17999	943	33	2	1063	2	ZNF430	19	21240159	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	4066573	21240159	37888824	172	17565											
PDCD2L	84306	broad.mit.edu	37	chr19	34912449	34912449	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggagtggagagccactcTttttgacctgccctacatca	8	11	9	13	0	2	2	1	1	1	1	2	4	2	3	4	2	3	0	4	2	1	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:34912449T>A	ENST00000246535.3	+	6	870	c.823T>A	c.(823-825)Ttt>Att	p.F275I	PDCD2L_ENST00000587065.2_5'UTR	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	275						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			AGAGCCACTCTTTTTGACCTG	0.512													16	378					0	0	0	0	A	34912449	T	A	34912449	3	1	90	1	0	0	0	0	1	0	0	0	11691	1609	56	5	845	5	PDCD2L	19	34912449	Missense_Mutation	SNP	T	TCGA-CN-5374-01A-01D-1434-08	13672290	34912449	24216534	173	17566											
ZBTB32	27033	broad.mit.edu	37	chr19	36205789	36205789	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtgtagagctgcagccTggagagctaaggccccttca	10	7	14	10	0	1	3	1	0	0	3	1	5	1	3	3	2	4	4	3	2	2	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:36205789T>C	ENST00000392197.2	+	3	579	c.261T>C	c.(259-261)ccT>ccC	p.P87P	ZBTB32_ENST00000262630.3_Silent_p.P87P			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	87	BTB.				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCTGCAGCCTGGAGAGCTAA	0.627													3	150					0	0	0	0	C	36205789	T	C	36205789	2	2	90	1	0	0	0	0	0	0	0	1	17630	1567	55	5		5	ZBTB32	19	36205789	Silent	SNP	T	TCGA-CN-5374-01A-01D-1434-08	1293340	36205789	22923194	174	17567											
ZNF780A	284323	broad.mit.edu	37	chr19	40580486	40580486	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgggtgggaagactaaaAacctttccacattccttaca	13	10	8	10	0	0	1	0	0	0	1	2	2	2	2	3	2	3	1	3	2	5	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:40580486A>G	ENST00000450241.2	-	6	2072	c.1761T>C	c.(1759-1761)gtT>gtC	p.V587V	ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Silent_p.V622V|ZNF780A_ENST00000594395.1_Silent_p.V622V|ZNF780A_ENST00000595687.2_Silent_p.V621V|ZNF780A_ENST00000340963.5_Silent_p.V621V			O75290	Z780A_HUMAN	zinc finger protein 780A	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAAGACTAAAAACCTTTCCAC	0.413													39	166					0	0	0	0	G	40580486	A	G	40580486	2	3	90	1	0	0	0	0	0	0	0	1	18245	1	1	5		5	ZNF780A	19	40580486	Silent	SNP	A	TCGA-CN-5374-01A-01D-1434-08	4374697	40580486	18548497	175	17568											
ZNF155	7711	broad.mit.edu	37	chr19	44500287	44500287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggagtctgttccagaagcagGagcacatgaagagtggtcct	11	8	14	8	0	1	3	0	1	1	2	3	5	3	5	2	3	2	3	2	3	2	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:44500287G>A	ENST00000270014.2	+	5	406	c.278G>A	c.(277-279)gGa>gAa	p.G93E	ZNF155_ENST00000590615.1_Missense_Mutation_p.G93E|ZNF155_ENST00000407951.2_Missense_Mutation_p.G104E	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	93						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				CCAGAAGCAGGAGCACATGAA	0.418													22	120					0	0	0	0	A	44500287	G	A	44500287	3	1	90	1	0	0	0	0	1	0	0	0	17831	1174	41	2	292	2	ZNF155	19	44500287	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	3919801	44500287	14628696	176	17569											
PVRL2	5819	broad.mit.edu	37	chr19	45381751	45381751	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagatggcaaggatgaGgaggaggaggaggaggaaga	16	2	20	3	0	0	3	0	1	0	2	0	11	0	10	1	8	1	1	1	8	3	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:45381751G>A	ENST00000252485.4	+	6	1665	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	497					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GCAaggatgaggaggaggagg	0.587													10	43					0	0	0	0	A	45381751	G	A	45381751	2	1	90	1	0	0	0	0	0	0	0	1	12922	991	35	4		4	PVRL2	19	45381751	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	881464	45381751	13747232	177	17570											
SYMPK	8189	broad.mit.edu	37	chr19	46324705	46324705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtaatgcgatcaggagctCtccagggttcagcggggaca	9	8	15	9	2	3	0	2	0	1	0	4	3	3	2	1	4	3	3	1	4	1	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:46324705C>T	ENST00000245934.7	-	22	3074	c.2830G>A	c.(2830-2832)Gag>Aag	p.E944K	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	944					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATCAGGAGCTCTCCAGGGTTC	0.587													3	61					0	0	0	0	T	46324705	C	T	46324705	3	4	90	1	0	0	0	0	1	0	0	0	15530	922	32	2	1018	2	SYMPK	19	46324705	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	942954	46324705	12804278	178	17571											
TRPM4	54795	broad.mit.edu	37	chr19	49693515	49693515	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggccagcactacacccatCtgggccctggttctcgcctt	6	10	9	16	1	2	0	0	0	2	0	3	0	2	0	4	3	2	2	4	3	1	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:49693515C>G	ENST00000252826.5	+	15	2196	c.2070C>G	c.(2068-2070)atC>atG	p.I690M	TRPM4_ENST00000427978.2_Missense_Mutation_p.I690M|TRPM4_ENST00000355712.5_Missense_Mutation_p.I336M	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	690					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.I690M(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTACACCCATCTGGGCCCTGG	0.602													53	364					0	0	0	0	G	49693515	C	G	49693515	3	3	90	1	0	0	0	0	1	0	0	0	16683	903	32	2	2128	2	TRPM4	19	49693515	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	3368810	49693515	9435468	179	17572											
ZNF761	388561	broad.mit.edu	37	chr19	53958797	53958797	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatccttacacgccatcatCgacttcatactggagagaaa	14	9	6	12	2	2	1	2	0	0	1	4	4	3	2	2	1	2	0	2	1	4	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:53958797C>T	ENST00000454407.1	+	0	1489							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACGCCATCATCGACTTCATAC	0.403													49	198					0	0	0	0	T	53958797	C	T	53958797	1	4	90	0	1	0	0	0	0	0	0	0	18230	876	31	1		1	ZNF761	19	53958797	RNA	SNP	C	TCGA-CN-5374-01A-01D-1434-08	4265282	53958797	5170186	180	17573											
CACNG7	59284	broad.mit.edu	37	chr19	54445546	54445546	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctccacctcgccctgctGaggcccgcccctcggagctc	4	7	9	21	3	1	1	0	1	1	0	5	2	1	2	6	2	2	2	6	2	0	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:54445546G>A	ENST00000391767.1	+	6	1039	c.827G>A	c.(826-828)tGa>tAa	p.*276*	CACNG7_ENST00000222212.2_Silent_p.*276*			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	0					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.*276*(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TCGCCCTGCTGAGGCCCGCCC	0.662													48	209					0	0	0	0	A	54445546	G	A	54445546	2	1	90	1	0	0	0	0	0	0	0	1	2587	1285	45	2		2	CACNG7	19	54445546	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	486749	54445546	4683437	181	17574											
ZNF550	162972	broad.mit.edu	37	chr19	58059066	58059066	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgtgagtcacattcatgGagaacatctgctgataacca	12	11	9	9	0	3	3	2	2	1	1	3	4	3	3	1	1	4	2	1	1	2	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:58059066G>T	ENST00000325134.5	-	3	606	c.450C>A	c.(448-450)ctC>ctA	p.L150L	ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Silent_p.L141L|ZNF550_ENST00000457177.1_Silent_p.L182L|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		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;0.026)		CACATTCATGGAGAACATCTG	0.483													15	363					6.72482e-11	7.20719e-11	1	0	T	58059066	G	T	58059066	2	4	90	1	0	0	0	0	0	0	0	1	18077	1161	41	2		2	ZNF550	19	58059066	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	3613520	58059066	1069917	182	17575											
GGT7	2686	broad.mit.edu	37	chr20	33444646	33444646	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaggcttctccacaagggcGctgtaattgctgaagtcctc	9	10	10	12	1	1	1	0	1	1	0	4	1	2	1	2	2	1	4	2	2	3	3	rs3746452		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:33444646G>A	ENST00000336431.5	-	8	1109	c.1065C>T	c.(1063-1065)agC>agT	p.S355S		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	355					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CCACAAGGGCGCTGTAATTGC	0.602													4	32					0	0	0	0	A	33444646	G	A	33444646	2	1	90	1	0	0	0	0	0	0	0	1	6415	1078	38	1		1	GGT7	20	33444646	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08		33444646	29580874	183	17576											
TOP1	7150	broad.mit.edu	37	chr20	39744053	39744053	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatggagaacaagcagcccGaggatgatctttttgataga	13	11	11	6	1	1	4	0	2	1	2	1	7	1	5	1	2	3	1	1	2	4	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:39744053G>T	ENST00000361337.2	+	16	1931	c.1681G>T	c.(1681-1683)Gag>Tag	p.E561*	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	561					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	CAAGCAGCCCGAGGATGATCT	0.383			T	NUP98	AML*								19	121					8.04996e-18	8.81332e-18	1	0	T	39744053	G	T	39744053	4	4	90	1	0	0	0	0	0	1	0	0	16458	1059	37	3	1743	3	TOP1	20	39744053	Nonsense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	6299407	39744053	23281467	184	17577											
KCNK15	60598	broad.mit.edu	37	chr20	43379005	43379005	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgccgccaccctggccctCggggccgtcgccttctcgca	2	8	12	19	5	1	0	0	0	1	0	4	0	1	0	6	3	1	1	6	3	0	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:43379005C>T	ENST00000372861.3	+	2	650	c.519C>T	c.(517-519)ctC>ctT	p.L173L		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	173						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CCCTGGCCCTCGGGGCCGTCG	0.672													12	53					0	0	0	0	T	43379005	C	T	43379005	2	4	90	1	0	0	0	0	0	0	0	1	8115	871	31	1		1	KCNK15	20	43379005	Silent	SNP	C	TCGA-CN-5374-01A-01D-1434-08	3634952	43379005	19646515	185	17578											
WFDC8	90199	broad.mit.edu	37	chr20	44180733	44180733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccaccaatgggcactcctCatcctgcaggcacttgggtt	7	11	9	14	0	1	0	1	0	0	0	4	0	4	0	4	3	1	4	4	3	1	3			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:44180733C>T	ENST00000357199.4	-	6	736	c.658G>A	c.(658-660)Gag>Aag	p.E220K	WFDC8_ENST00000289953.2_Missense_Mutation_p.E220K	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	220	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GGGCACTCCTCATCCTGCAGG	0.423													8	305					0	0	0	0	T	44180733	C	T	44180733	3	4	90	1	0	0	0	0	1	0	0	0	17452	835	29	2	71	2	WFDC8	20	44180733	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	801728	44180733	18844787	186	17579											
PREX1	57580	broad.mit.edu	37	chr20	47309258	47309258	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgacttcagtgttgattcGacccctgaagatgtagaggg	10	11	12	8	1	1	5	1	3	0	2	2	6	1	5	2	1	0	2	2	1	2	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:47309258G>A	ENST00000396220.1	-	8	1010	c.988C>T	c.(988-990)Cga>Tga	p.R330*	PREX1_ENST00000371941.3_Nonsense_Mutation_p.R330*			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	330	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GTGTTGATTCGACCCCTGAAG	0.577													19	175					0	0	0	0	A	47309258	G	A	47309258	4	1	90	1	0	0	0	0	0	1	0	0	12556	1066	37	1	4123	1	PREX1	20	47309258	Nonsense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	3128525	47309258	15716262	187	17580											
ARFGEF2	10564	broad.mit.edu	37	chr20	47639640	47639640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggtccagttggaattGatacagaccattgacaacat	12	12	10	7	0	0	3	0	2	0	1	1	4	1	4	2	2	2	1	2	2	3	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:47639640G>T	ENST00000371917.4	+	35	4677	c.4677G>T	c.(4675-4677)ttG>ttT	p.L1559F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1559					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTTGGAATTGATACAGACCA	0.453													8	219					4.68919e-08	4.94213e-08	1	0	T	47639640	G	T	47639640	3	4	90	1	0	0	0	0	1	0	0	0	855	1281	45	2	4815	2	ARFGEF2	20	47639640	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	330382	47639640	15385880	188	17581											
TSHZ2	128553	broad.mit.edu	37	chr20	51873085	51873085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accattcacagtttgtaacaGacgtggatgaagaatagctc	14	10	9	8	1	1	3	1	1	0	2	2	4	1	4	1	1	2	3	1	1	4	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:51873085G>C	ENST00000371497.5	+	2	3975	c.3088G>C	c.(3088-3090)Gac>Cac	p.D1030H	TSHZ2_ENST00000329613.6_Missense_Mutation_p.D1027H|TSHZ2_ENST00000603338.2_Missense_Mutation_p.D1027H|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1030					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GTTTGTAACAGACGTGGATGA	0.483													7	216					0	0	0	0	C	51873085	G	C	51873085	3	2	90	1	0	0	0	0	1	0	0	0	16719	942	33	2	3094	2	TSHZ2	20	51873085	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	4233445	51873085	11152435	189	17582											
ZNF831	128611	broad.mit.edu	37	chr20	57769147	57769147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggggcacagttgggggggGacaagggggacaggatggcc	10	3	22	6	0	0	0	0	0	0	0	0	3	0	3	1	10	0	2	1	10	2	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:57769147G>A	ENST00000371030.2	+	1	3073	c.3073G>A	c.(3073-3075)Gac>Aac	p.D1025N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1025						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTTGGGGGGGGACAAGGGGGA	0.682													6	71					0	0	0	0	A	57769147	G	A	57769147	3	1	90	1	0	0	0	0	1	0	0	0	18278	1174	41	2	3075	2	ZNF831	20	57769147	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	5896062	57769147	5256373	190	17583											
PRPF6	24148	broad.mit.edu	37	chr20	62616302	62616302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttctcaagtggaccctacGagaaagatgatgaggaagca	14	8	11	8	1	2	4	1	2	2	2	3	7	2	6	1	2	2	1	1	2	4	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:62616302G>A	ENST00000535781.1	+	3	394	c.283G>A	c.(283-285)Gag>Aag	p.E95K	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	95					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					TGGACCCTACGAGAAAGATGA	0.448													14	63					0	0	0	0	A	62616302	G	A	62616302	3	1	90	1	0	0	0	0	1	0	0	0	12654	1059	37	1	293	1	PRPF6	20	62616302	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	4847155	62616302	409218	191	17584											
DONSON	29980	broad.mit.edu	37	chr21	34956969	34956969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttccagccatttttctatCagctccaatacgagggaaca	11	12	6	12	1	2	0	1	0	1	0	4	2	4	1	3	1	4	1	3	1	4	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr21:34956969C>T	ENST00000453626.1	-	4	716	c.712G>A	c.(712-714)Gat>Aat	p.D238N	DONSON_ENST00000432378.1_Missense_Mutation_p.D238N|DONSON_ENST00000303113.6_Missense_Mutation_p.D224N|DONSON_ENST00000303071.5_Missense_Mutation_p.D238N			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	238					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						ATTTTTCTATCAGCTCCAATA	0.448													4	112					0	0	0	0	T	34956969	C	T	34956969	3	4	90	1	0	0	0	0	1	0	0	0	4742	826	29	2	1016	2	DONSON	21	34956969	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08		34956969	13172926	192	17585											
PIWIL3	440822	broad.mit.edu	37	chr22	25155901	25155901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagaggtctaaccactGggacttcctcctgcagcggc	7	8	12	14	1	1	1	0	0	1	1	3	2	3	2	3	3	4	3	3	3	1	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:25155901G>A	ENST00000332271.5	-	3	574	c.158C>T	c.(157-159)cCa>cTa	p.P53L	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000533313.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	53					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCTAACCACTGGGACTTCCTC	0.567													110	640					0	0	0	0	A	25155901	G	A	25155901	3	1	90	1	0	0	0	0	1	0	0	0	12031	1348	47	4	2566	4	PIWIL3	22	25155901	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08		25155901	26148665	193	17586											
MYO18B	84700	broad.mit.edu	37	chr22	26286822	26286822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcggctacaggccttcCgggaggtccaggagctcaag	9	5	15	12	2	1	1	1	0	0	1	3	3	3	3	3	5	3	2	3	5	2	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:26286822C>T	ENST00000335473.7	+	26	4664	c.4414C>T	c.(4414-4416)Cgg>Tgg	p.R1472W	CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1472W|CTA-125H2.2_ENST00000453457.2_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.R1473W	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1472	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACAGGCCTTCCGGGAGGTCCA	0.612													10	40					0	0	0	0	T	26286822	C	T	26286822	3	4	90	1	0	0	0	0	1	0	0	0	10136	643	23	1	4512	1	MYO18B	22	26286822	Missense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	1130921	26286822	25017744	194	17587											
CARD10	29775	broad.mit.edu	37	chr22	37892475	37892475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttcgagtccatcagggaGgggagtgtggacccctgatt	7	9	14	11	1	1	1	1	1	0	0	3	5	2	4	4	4	0	0	4	4	0	2			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:37892475G>A	ENST00000403299.1	-	14	2256	c.2040C>T	c.(2038-2040)ccC>ccT	p.P680P	CARD10_ENST00000251973.5_Silent_p.P680P|CARD10_ENST00000406271.3_Silent_p.P394P			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	680					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCATCAGGGAGGGGAGTGTGG	0.637													19	91					0	0	0	0	A	37892475	G	A	37892475	2	1	90	1	0	0	0	0	0	0	0	1	2669	987	35	4		4	CARD10	22	37892475	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	11605653	37892475	13412091	195	17588											
TAB1	10454	broad.mit.edu	37	chr22	39811028	39811028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggagcagcagccaagctgGacagatgacctgcctctctg	10	6	12	13	0	1	2	0	1	1	1	2	4	1	4	3	2	5	3	3	2	1	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:39811028G>T	ENST00000216160.6	+	2	113	c.51G>T	c.(49-51)tgG>tgT	p.W17C	TAB1_ENST00000331454.3_Missense_Mutation_p.W17C	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	17					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						AGCCAAGCTGGACAGATGACC	0.612													9	31					2.80697e-09	2.97071e-09	1	0	T	39811028	G	T	39811028	3	4	90	1	0	0	0	0	1	0	0	0	15586	1183	41	2	57	2	TAB1	22	39811028	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	1918553	39811028	11493538	196	17589											
SAMM50	25813	broad.mit.edu	37	chr22	44360402	44360402	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tatcatcatttgtgaaattgGagatgttttcaaggccaaaa	14	14	8	5	0	3	2	3	1	0	1	3	3	3	2	1	2	0	1	1	2	5	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:44360402G>C	ENST00000350028.4	+	3	360	c.203G>C	c.(202-204)gGa>gCa	p.G68A	SAMM50_ENST00000396202.3_5'UTR|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	68					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGTGAAATTGGAGATGTTTTC	0.408													21	151					0	0	0	0	C	44360402	G	C	44360402	3	2	90	1	0	0	0	0	1	0	0	0	13914	1174	41	2	213	2	SAMM50	22	44360402	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	4549374	44360402	6944164	197	17590											
FANCB	2187	broad.mit.edu	37	chrX	14883405	14883405	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacacacagttgcaacacatGatttttaaatgagagttttc	14	13	7	7	0	0	2	0	2	0	1	1	4	0	2	0	0	2	3	0	0	3	6			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:14883405G>C	ENST00000398334.1	-	3	495	c.228C>G	c.(226-228)atC>atG	p.I76M	FANCB_ENST00000324138.3_Missense_Mutation_p.I76M	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	76					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)					TGCAACACATGATTTTTAAAT	0.299								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	101					0	0	0	0	C	14883405	G	C	14883405	3	2	90	1	0	0	0	0	1	0	0	0	5708	1280	45	2	2383	2	FANCB	23	14883405	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08		14883405	140387155	198	17591											
RGN	9104	broad.mit.edu	37	chrX	46951163	46951163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaggggaagctctgggtgGcctgttacaatggaggaaga	10	8	17	6	0	1	2	0	1	1	1	1	5	1	5	1	6	2	2	1	6	4	1			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:46951163G>C	ENST00000397180.1	+	6	1618	c.649G>C	c.(649-651)Gcc>Ccc	p.A217P	RGN_ENST00000336169.3_Missense_Mutation_p.A217P|RGN_ENST00000457380.1_Missense_Mutation_p.A145P|RGN_ENST00000352078.4_Missense_Mutation_p.A217P	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	217					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GCTCTGGGTGGCCTGTTACAA	0.458													5	122					0	0	0	0	C	46951163	G	C	46951163	3	2	90	1	0	0	0	0	1	0	0	0	13364	1203	42	4	663	4	RGN	23	46951163	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	32067758	46951163	108319397	199	17592											
LPAR4	2846	broad.mit.edu	37	chrX	78010407	78010407	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacttccaattccaagattCaaattcaagcctcagaccca	14	10	4	13	0	3	3	3	1	0	2	5	3	5	3	4	0	1	0	4	0	4	4			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:78010407C>G	ENST00000435339.2	+	2	446	c.41C>G	c.(40-42)tCa>tGa	p.S14*	LPAR4_ENST00000373301.2_Nonsense_Mutation_p.S14*|RP11-475D8.1_ENST00000514744.1_RNA	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	14						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.S14*(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTCCAAGATTCAAATTCAAGC	0.448													27	125					0	0	0	0	G	78010407	C	G	78010407	4	3	90	1	0	0	0	0	0	1	0	0	8971	838	29	2	43	2	LPAR4	23	78010407	Nonsense_Mutation	SNP	C	TCGA-CN-5374-01A-01D-1434-08	31059244	78010407	77260153	200	17593											
DACH2	117154	broad.mit.edu	37	chrX	86068141	86068141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaccttgacagggtctgctGaaagttgctttggataatgc	9	13	12	7	0	1	2	0	2	1	0	1	3	1	3	1	2	4	4	1	2	3	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:86068141G>A	ENST00000373131.1	+	8	1522	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L	DACH2_ENST00000508860.1_Silent_p.L299L|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000510272.1_Silent_p.L247L|DACH2_ENST00000373125.4_Silent_p.L466L	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	466	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGGGTCTGCTGAAAGTTGCTT	0.368													4	22					0	0	0	0	A	86068141	G	A	86068141	2	1	90	1	0	0	0	0	0	0	0	1	4254	1277	45	2		2	DACH2	23	86068141	Silent	SNP	G	TCGA-CN-5374-01A-01D-1434-08	8057734	86068141	69202419	201	17594											
PRPS1	5631	broad.mit.edu	37	chrX	106882553	106882553	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtgaaagtgtacgtggaGaggatgtctacattgttcag	10	13	14	4	1	2	2	1	1	1	1	2	4	2	3	0	3	2	2	0	3	3	5			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:106882553G>C	ENST00000372435.4	+	2	273	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	PRPS1_ENST00000543248.1_Missense_Mutation_p.E51Q|PRPS1_ENST00000372419.3_Missense_Mutation_p.E51Q|PRPS1_ENST00000372428.4_5'UTR	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	51					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TGTACGTGGAGAGGATGTCTA	0.408													56	289					0	0	0	0	C	106882553	G	C	106882553	3	2	90	1	0	0	0	0	1	0	0	0	12658	943	33	2	157	2	PRPS1	23	106882553	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	20814412	106882553	48388007	202	17595											
KIAA1210	57481	broad.mit.edu	37	chrX	118284511	118284511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagagaagcgtgaaaggcaGagaagcctcgaggcgtccag	13	3	17	8	3	0	3	0	1	0	2	2	7	1	4	2	3	2	1	2	3	3	0			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:118284511G>A	ENST00000402510.2	-	1	31	c.32C>T	c.(31-33)tCt>tTt	p.S11F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	11								p.S11F(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTGAAAGGCAGAGAAGCCTCG	0.642													21	94					0	0	0	0	A	118284511	G	A	118284511	3	1	90	1	0	0	0	0	1	0	0	0	8265	942	33	2	5153	2	KIAA1210	23	118284511	Missense_Mutation	SNP	G	TCGA-CN-5374-01A-01D-1434-08	11401958	118284511	36986049	203	17596											
PRAMEF2	65122	broad.mit.edu	37	chr1	12920063	12920063	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttcctcaggctggaacAcctccagttgcttaaaataa	11	12	8	10	0	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	4	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:12920063A>G	ENST00000240189.2	+	3	890	c.803A>G	c.(802-804)cAc>cGc	p.H268R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	268										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCTGGAACACCTCCAGTTG	0.463													17	74					0	0	0	0	G	12920063	A	G	12920063	3	3	91	1	0	0	0	0	1	0	0	0	12512	159	6	5	809	5	PRAMEF2	1	12920063	Missense_Mutation	SNP	A	TCGA-CN-6010-01A-11D-1683-08		12920063	236330558	1	17597											
PADI2	11240	broad.mit.edu	37	chr1	17422438	17422438	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccaccacaccatccCggtctgcgtccacatccagg	7	9	6	19	2	3	0	0	0	3	0	7	0	6	0	6	2	1	0	6	2	0	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:17422438C>G	ENST00000375486.4	-	4	440	c.377G>C	c.(376-378)cGg>cCg	p.R126P	PADI2_ENST00000444885.2_Missense_Mutation_p.R126P|PADI2_ENST00000375481.1_Missense_Mutation_p.R126P	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	126					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CACACCATCCCGGTCTGCGTC	0.612													3	50					0	0	0	0	G	17422438	C	G	17422438	3	3	91	1	0	0	0	0	1	0	0	0	11449	652	23	3	1672	3	PADI2	1	17422438	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	4502375	17422438	231828183	2	17598											
ECE1	1889	broad.mit.edu	37	chr1	21564651	21564651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgctgtcctcggcgaaGgttgctttgacaaacatggg	7	12	12	10	2	1	1	0	1	1	0	3	2	2	1	1	3	3	3	1	3	2	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:21564651G>A	ENST00000415912.2	-	11	1442	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	ECE1_ENST00000264205.6_Silent_p.T452T|ECE1_ENST00000436918.2_Silent_p.T455T|ECE1_ENST00000374893.6_Silent_p.T455T|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000357071.4_Silent_p.T443T	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	455					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CCTCGGCGAAGGTTGCTTTGA	0.537													8	18					0	0	0	0	A	21564651	G	A	21564651	2	1	91	1	0	0	0	0	0	0	0	1	4925	987	35	4		4	ECE1	1	21564651	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	4142213	21564651	227685970	3	17599											
COL16A1	1307	broad.mit.edu	37	chr1	32165642	32165642	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagatggttgggtgctcacCagtcacgttggctggcaggc	6	10	16	9	1	2	1	2	1	0	1	2	2	2	1	1	5	1	5	1	5	0	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:32165642C>T	ENST00000373672.3	-	3	664	c.148_splice	c.e3+1	p.G50_splice	COL16A1_ENST00000373668.3_Splice_Site_p.G50_splice|COL16A1_ENST00000271069.6_Splice_Site_p.G50_splice	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	50	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGTGCTCACCAGTCACGTTG	0.572													11	21					0	0	0	0	T	32165642	C	T	32165642	5	4	91	1	0	0	0	0	0	0	1	0	3703	608	21	4	4942	4	COL16A1	1	32165642	Splice_Site	SNP	C	TCGA-CN-6010-01A-11D-1683-08	10600991	32165642	217084979	4	17600											
SPOCD1	90853	broad.mit.edu	37	chr1	32264059	32264059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaggttcctggggtccCgcaggttgaacagcaggctg	7	8	14	12	1	1	1	1	1	0	0	3	1	3	1	3	5	2	5	3	5	1	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:32264059C>T	ENST00000360482.2	-	8	2141	c.2012G>A	c.(2011-2013)cGg>cAg	p.R671Q	SPOCD1_ENST00000533231.1_Missense_Mutation_p.R671Q|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.R164Q	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	671	TFIIS central.		R -> W (in a breast cancer sample; somatic mutation).		transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCTGGGGTCCCGCAGGTTGAA	0.617													12	21					0	0	0	0	T	32264059	C	T	32264059	3	4	91	1	0	0	0	0	1	0	0	0	15168	652	23	1	1674	1	SPOCD1	1	32264059	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	98417	32264059	216986562	5	17601											
CYP4Z1	199974	broad.mit.edu	37	chr1	47564902	47564902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaccctgagcatcagcAgagatgccgagatgaaatca	16	6	10	9	1	2	4	2	2	0	2	2	6	2	4	2	0	4	3	2	0	3	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:47564902A>G	ENST00000334194.3	+	8	1016	c.1013A>G	c.(1012-1014)cAg>cGg	p.Q338R	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	338						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GAGCATCAGCAGAGATGCCGA	0.458													3	35					0	0	0	0	G	47564902	A	G	47564902	3	3	91	1	0	0	0	0	1	0	0	0	4226	188	7	5	1043	5	CYP4Z1	1	47564902	Missense_Mutation	SNP	A	TCGA-CN-6010-01A-11D-1683-08	15300843	47564902	201685719	6	17602											
MCOLN2	255231	broad.mit.edu	37	chr1	85395292	85395292	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggactctttctgatacTcttctttgctactgcattcc	6	17	6	12	0	4	2	0	2	4	0	5	3	5	3	1	1	4	2	1	1	2	6			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:85395292T>A	ENST00000370608.3	-	13	1680	c.1613A>T	c.(1612-1614)gAg>gTg	p.E538V	MCOLN2_ENST00000284027.5_Missense_Mutation_p.E510V	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	538						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTTCTGATACTCTTCTTTGCT	0.438													5	20					0	0	0	0	A	85395292	T	A	85395292	3	1	91	1	0	0	0	0	1	0	0	0	9465	1551	54	5	95	5	MCOLN2	1	85395292	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	37830390	85395292	163855329	7	17603											
CCBL2	56267	broad.mit.edu	37	chr1	89426943	89426943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgatgcaaaggtcagcaaTtacttgcagttcctctctgt	9	15	8	9	0	2	1	1	1	1	0	4	1	3	1	1	1	4	4	1	1	3	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:89426943T>C	ENST00000260508.4	-	8	1031	c.694A>G	c.(694-696)Att>Gtt	p.I232V	CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.I198V	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	232					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGGTCAGCAATTACTTGCAGT	0.363													17	85					0	0	0	0	C	89426943	T	C	89426943	3	2	91	1	0	0	0	0	1	0	0	0	2758	1493	52	5	698	5	CCBL2	1	89426943	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	4031651	89426943	159823678	8	17604											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454676	114454676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctgtcccacagcagcAagggcacccctcttctagct	7	8	7	19	0	2	0	0	0	2	0	4	0	4	0	5	1	3	4	5	1	2	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:114454676A>G	ENST00000369563.3	+	4	1908	c.1462A>G	c.(1462-1464)Aag>Gag	p.K488E	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	488					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACAGCAGCAAGGGCACCCC	0.532								Other identified genes with known or suspected DNA repair function					11	30					0	0	0	0	G	114454676	A	G	114454676	3	3	91	1	0	0	0	0	1	0	0	0	4327	131	5	5	1476	5	DCLRE1B	1	114454676	Missense_Mutation	SNP	A	TCGA-CN-6010-01A-11D-1683-08	25027733	114454676	134795945	9	17605											
FLG	2312	broad.mit.edu	37	chr1	152277266	152277266	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcggactcttggtggctctGctgatggggcccagcctgtc	3	11	15	12	1	2	1	0	1	2	0	3	2	2	2	2	5	3	2	2	5	0	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:152277266G>C	ENST00000368799.1	-	3	10131	c.10096C>G	c.(10096-10098)Cag>Gag	p.Q3366E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3366	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGGCTCTGCTGATGGGGC	0.582									Ichthyosis				25	177					0	0	0	0	C	152277266	G	C	152277266	3	2	91	1	0	0	0	0	1	0	0	0	5967	1328	46	4	2093	4	FLG	1	152277266	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	37822590	152277266	96973355	10	17606											
LCE1C	353133	broad.mit.edu	37	chr1	152777761	152777761	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccagaactgcagcatcccCcagagctggagccacagctg	10	4	10	17	0	0	2	0	0	0	2	1	3	1	3	5	1	6	4	5	1	1	0			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:152777761C>A	ENST00000368768.1	-	2	244	c.194G>T	c.(193-195)gGg>gTg	p.G65V	LCE1C_ENST00000607093.1_Missense_Mutation_p.G65V	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	65	Gly-rich.				keratinization			p.G65V(1)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGCATCCCCCAGAGCTGGA	0.662													7	42					2.0095e-06	5.21709e-05	1	0	A	152777761	C	A	152777761	3	1	91	1	0	0	0	0	1	0	0	0	8714	623	22	4	166	4	LCE1C	1	152777761	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	500495	152777761	96472860	11	17607											
RGL1	23179	broad.mit.edu	37	chr1	183895366	183895366	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtagccggaccagcttgacGttgcccaggacagctaaacg	10	6	12	13	4	0	1	0	1	0	0	0	3	0	3	3	2	5	4	3	2	3	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:183895366G>A	ENST00000304685.3	+	19	2813	c.2352G>A	c.(2350-2352)acG>acA	p.T784T	RGL1_ENST00000539189.1_Silent_p.T720T|RGL1_ENST00000536277.1_Silent_p.T747T|RGL1_ENST00000367531.1_Silent_p.T784T|RGL1_ENST00000360851.3_Silent_p.T749T	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	749					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCAGCTTGACGTTGCCCAGGA	0.502													23	32					0	0	0	0	A	183895366	G	A	183895366	2	1	91	1	0	0	0	0	0	0	0	1	13358	1132	40	1		1	RGL1	1	183895366	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	31117605	183895366	65355255	12	17608											
PLA2G4A	5321	broad.mit.edu	37	chr1	186839595	186839595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtattcccacaagtttaCggtagtggtgttacgtgcca	9	12	10	10	2	0	0	0	0	0	0	1	0	1	0	3	2	3	4	3	2	5	6			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:186839595C>T	ENST00000367466.3	+	3	214	c.62C>T	c.(61-63)aCg>aTg	p.T21M	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.T21M|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	21	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	CACAAGTTTACGGTAGTGGTG	0.383													9	29					0	0	0	0	T	186839595	C	T	186839595	3	4	91	1	0	0	0	0	1	0	0	0	12073	536	19	1	68	1	PLA2G4A	1	186839595	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	2944229	186839595	62411026	13	17609											
CRB1	23418	broad.mit.edu	37	chr1	197316484	197316484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagatatagctgtaactGcacgggtagtggattcacag	11	11	11	8	1	1	1	1	0	0	1	2	2	2	2	1	2	3	4	1	2	4	6	rs148240351		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:197316484G>A	ENST00000367400.3	+	4	998	c.863G>A	c.(862-864)tGc>tAc	p.C288Y	CRB1_ENST00000535699.1_Missense_Mutation_p.C219Y|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.C288Y	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	288	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGCTGTAACTGCACGGGTAGT	0.388													18	131					0	0	0	0	A	197316484	G	A	197316484	3	1	91	1	0	0	0	0	1	0	0	0	3878	1319	46	4	877	4	CRB1	1	197316484	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	10476889	197316484	51934137	14	17610											
WDR26	80232	broad.mit.edu	37	chr1	224607315	224607315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcatggctacacatcagaTacctaaaaatacaacagaga	18	7	6	10	0	1	2	1	0	0	2	1	3	1	2	1	1	5	2	1	1	7	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:224607315T>C	ENST00000414423.2	-	5	960	c.767A>G	c.(766-768)tAt>tGt	p.Y256C	WDR26_ENST00000295024.6_Missense_Mutation_p.Y109C|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	256						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		ACACATCAGATACCTAAAAAT	0.378													37	33					0	0	0	0	C	224607315	T	C	224607315	3	2	91	1	0	0	0	0	1	0	0	0	17379	1406	49	5	1258	5	WDR26	1	224607315	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	27290831	224607315	24643306	15	17611											
ARID4B	51742	broad.mit.edu	37	chr1	235346105	235346105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcttcagcagaactttcaGaagctagaaaataacagaaa	18	9	7	7	0	3	4	2	0	1	4	3	4	3	4	0	0	4	2	0	0	7	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:235346105G>A	ENST00000264183.3	-	20	2626	c.2129C>T	c.(2128-2130)tCt>tTt	p.S710F	ARID4B_ENST00000349213.3_Missense_Mutation_p.S624F|ARID4B_ENST00000366603.2_Missense_Mutation_p.S710F	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			AGAACTTTCAGAAGCTAGAAA	0.373													16	71					0	0	0	0	A	235346105	G	A	235346105	3	1	91	1	0	0	0	0	1	0	0	0	922	942	33	2	1829	2	ARID4B	1	235346105	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	10738790	235346105	13904516	16	17612											
ADSS	159	broad.mit.edu	37	chr1	244574694	244574694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgttccatcctgggaGagtcttatattgaacttcaa	9	15	9	8	0	3	2	1	1	2	1	5	3	5	2	2	1	1	1	2	1	4	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:244574694G>T	ENST00000366535.3	-	12	1529	c.1213C>A	c.(1213-1215)Ctc>Atc	p.L405I		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	405					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	CATCCTGGGAGAGTCTTATAT	0.343													20	133					1.28384e-07	3.4642e-06	1	0	T	244574694	G	T	244574694	3	4	91	1	0	0	0	0	1	0	0	0	347	942	33	2	165	2	ADSS	1	244574694	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	9228589	244574694	4675927	17	17613											
OR11L1	391189	broad.mit.edu	37	chr1	248004731	248004731	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcagggaaggcagaaaGcctgtgctgacccctgtgca	11	7	12	11	0	2	2	2	1	0	1	2	3	2	3	3	2	3	3	3	2	2	0			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:248004731G>A	ENST00000355784.2	-	1	523	c.468C>T	c.(466-468)ggC>ggT	p.G156G		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGCAGAAAGCCTGTGCTGA	0.577													11	48					0	0	0	0	A	248004731	G	A	248004731	2	1	91	1	0	0	0	0	0	0	0	1	11001	958	34	4		4	OR11L1	1	248004731	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	3430037	248004731	1245890	18	17614											
OR2T4	127074	broad.mit.edu	37	chr1	248525876	248525876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaataaggatgtcatggggGctctgaagaaaatgttaaca	15	9	13	4	0	2	2	1	1	1	1	2	4	2	4	0	4	1	2	0	4	6	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:248525876G>C	ENST00000366475.1	+	1	994	c.994G>C	c.(994-996)Gct>Cct	p.A332P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	332					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTCATGGGGGCTCTGAAGAA	0.413													25	109					0	0	0	0	C	248525876	G	C	248525876	3	2	91	1	0	0	0	0	1	0	0	0	11098	1203	42	4	996	4	OR2T4	1	248525876	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	521145	248525876	724745	19	17615											
FAM179A	165186	broad.mit.edu	37	chr2	29240047	29240047	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatctccaagtctgccCgggagaagatgcagctgaag	11	7	11	12	1	3	3	1	1	2	2	4	4	3	3	3	1	3	2	3	1	3	0			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:29240047C>G	ENST00000379558.4	+	9	1423	c.1072C>G	c.(1072-1074)Cgg>Ggg	p.R358G	FAM179A_ENST00000403861.2_Missense_Mutation_p.R358G|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	358							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAAGTCTGCCCGGGAGAAGAT	0.517													4	93					0	0	0	0	G	29240047	C	G	29240047	3	3	91	1	0	0	0	0	1	0	0	0	5546	643	23	3	1102	3	FAM179A	2	29240047	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08		29240047	213959326	20	17616											
ALMS1	7840	broad.mit.edu	37	chr2	73826530	73826530	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcttttatttttctaggtAgcaaaccatgtgatttcttc	8	20	5	8	0	3	1	0	1	3	0	5	1	3	1	1	1	2	2	1	1	4	8			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:73826530A>G	ENST00000264448.6	+	17	11658	c.11547A>G	c.(11545-11547)gtA>gtG	p.V3849V	ALMS1_ENST00000409009.1_Silent_p.V3807V	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3849					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTTCTAGGTAGCAAACCATG	0.368													36	180					0	0	0	0	G	73826530	A	G	73826530	2	3	91	1	0	0	0	0	0	0	0	1	535	407	15	5		5	ALMS1	2	73826530	Silent	SNP	A	TCGA-CN-6010-01A-11D-1683-08	44586483	73826530	169372843	21	17617											
DPP10	57628	broad.mit.edu	37	chr2	116510785	116510785	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatggttaaatgggtaagcaAtaccaagactgtggtaagat	15	11	11	4	0	0	2	0	0	0	2	0	2	0	2	1	3	2	4	1	3	8	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:116510785A>T	ENST00000410059.1	+	11	1466	c.986A>T	c.(985-987)aAt>aTt	p.N329I	DPP10_ENST00000310323.8_Missense_Mutation_p.N322I|DPP10_ENST00000409163.1_Missense_Mutation_p.N279I|DPP10_ENST00000393147.2_Missense_Mutation_p.N333I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	329					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGGGTAAGCAATACCAAGACT	0.363													10	41					0	0	0	0	T	116510785	A	T	116510785	3	4	91	1	0	0	0	0	1	0	0	0	4763	101	4	5	1199	5	DPP10	2	116510785	Missense_Mutation	SNP	A	TCGA-CN-6010-01A-11D-1683-08	42684255	116510785	126688588	22	17618											
XIRP2	129446	broad.mit.edu	37	chr2	168107879	168107879	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatggctgaaaatttcgTgaatgaccctgaaaatgaaa	17	10	8	6	1	1	5	1	5	0	0	2	5	1	5	1	1	0	1	1	1	7	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:168107879T>A	ENST00000409195.1	+	9	10066	c.9977T>A	c.(9976-9978)gTg>gAg	p.V3326E	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V3104E|XIRP2_ENST00000295237.9_Missense_Mutation_p.V3326E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3151					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						GAAAATTTCGTGAATGACCCT	0.443													7	78					0	0	0	0	A	168107879	T	A	168107879	3	1	91	1	0	0	0	0	1	0	0	0	17526	1696	59	5	10007	5	XIRP2	2	168107879	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	51597094	168107879	75091494	23	17619											
FASTKD2	22868	broad.mit.edu	37	chr2	207651558	207651558	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcattttgcttgatgaattActttcccctggctcctttta	6	20	5	10	0	1	2	1	2	0	0	3	2	3	2	3	1	2	2	3	1	3	8			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:207651558A>T	ENST00000236980.6	+	8	1877	c.1529A>T	c.(1528-1530)tAc>tTc	p.Y510F	FASTKD2_ENST00000403094.3_Missense_Mutation_p.Y510F|FASTKD2_ENST00000402774.3_Missense_Mutation_p.Y510F	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	510					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTGATGAATTACTTTCCCCTG	0.403													35	80					0	0	0	0	T	207651558	A	T	207651558	3	4	91	1	0	0	0	0	1	0	0	0	5731	391	14	5	1555	5	FASTKD2	2	207651558	Missense_Mutation	SNP	A	TCGA-CN-6010-01A-11D-1683-08	39543679	207651558	35547815	24	17620											
PIKFYVE	200576	broad.mit.edu	37	chr2	209200049	209200049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttattctcccattcggcttCttgaagtatgtgttccactc	6	17	7	11	1	2	1	0	1	2	0	6	1	3	1	2	1	0	4	2	1	3	7			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:209200049C>T	ENST00000264380.4	+	25	4320	c.4162C>T	c.(4162-4164)Ctt>Ttt	p.L1388F	PIKFYVE_ENST00000474721.1_3'UTR	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1388					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CATTCGGCTTCTTGAAGTATG	0.363													71	134					0	0	0	0	T	209200049	C	T	209200049	3	4	91	1	0	0	0	0	1	0	0	0	11996	913	32	2	4267	2	PIKFYVE	2	209200049	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	1548491	209200049	33999324	25	17621											
CPS1	1373	broad.mit.edu	37	chr2	211539654	211539654	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccaagattccttggtgTggctgaacaattacacaatg	11	10	10	10	1	0	2	0	1	0	1	1	2	1	2	3	3	2	1	3	3	5	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:211539654T>A	ENST00000233072.5	+	35	4326	c.4130T>A	c.(4129-4131)gTg>gAg	p.V1377E	CPS1_ENST00000451903.2_Missense_Mutation_p.V926E|CPS1_ENST00000430249.2_Missense_Mutation_p.V1383E	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1377					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTCCTTGGTGTGGCTGAACAA	0.343													18	121					0	0	0	0	A	211539654	T	A	211539654	3	1	91	1	0	0	0	0	1	0	0	0	3853	1696	59	5	4290	5	CPS1	2	211539654	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	2339605	211539654	31659719	26	17622											
COL4A4	1286	broad.mit.edu	37	chr2	227920692	227920692	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaccaggtagcccatcAtctccaaagggacctgggat	11	6	13	11	0	2	0	1	0	1	0	3	4	2	4	4	5	1	1	4	5	2	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:227920692A>G	ENST00000396625.3	-	30	2892	c.2685T>C	c.(2683-2685)gaT>gaC	p.D895D	COL4A4_ENST00000329662.7_Silent_p.D895D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	895	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTAGCCCATCATCTCCAAAGG	0.582													5	18					0	0	0	0	G	227920692	A	G	227920692	2	3	91	1	0	0	0	0	0	0	0	1	3723	214	8	5		5	COL4A4	2	227920692	Silent	SNP	A	TCGA-CN-6010-01A-11D-1683-08	16381038	227920692	15278681	27	17623											
COL4A3	1285	broad.mit.edu	37	chr2	228173948	228173948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgaaggtcctgcgatcGccatagccgttcacagccaa	9	10	10	12	3	1	1	1	1	0	0	3	2	2	1	4	1	3	1	4	1	3	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:228173948G>A	ENST00000396578.3	+	50	4831	c.4669G>A	c.(4669-4671)Gcc>Acc	p.A1557T	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1557	Collagen IV NC1.|Required for the anti-angiogenic activity of tumstatin.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TCCTGCGATCGCCATAGCCGT	0.473													10	39					0	0	0	0	A	228173948	G	A	228173948	3	1	91	1	0	0	0	0	1	0	0	0	3721	1087	38	1	4867	1	COL4A3	2	228173948	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	253256	228173948	15025425	28	17624											
DGKD	8527	broad.mit.edu	37	chr2	234296984	234296984	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatactttaagcttcgagggCgaacgctttactatgccaaa	12	11	9	9	3	0	0	0	0	0	0	1	3	0	0	1	1	5	2	1	1	6	7			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:234296984C>T	ENST00000264057.2	+	2	250	c.238C>T	c.(238-240)Cga>Tga	p.R80*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.R36*|DGKD_ENST00000489613.1_3'UTR|AC019221.4_ENST00000442524.1_RNA	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	80	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCTTCGAGGGCGAACGCTTTA	0.507													25	59					0	0	0	0	T	234296984	C	T	234296984	4	4	91	1	0	0	0	0	0	1	0	0	4504	760	27	1	268	1	DGKD	2	234296984	Nonsense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	6123036	234296984	8902389	29	17625											
HDAC4	9759	broad.mit.edu	37	chr2	240061464	240061464	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgggtgagctgggtccGgagcctggggcgctgctgca	3	10	19	9	2	0	1	0	1	0	0	1	2	1	2	2	5	4	5	2	5	0	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:240061464G>A	ENST00000345617.3	-	9	1685	c.894C>T	c.(892-894)tcC>tcT	p.S298S	HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Silent_p.S267S|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	298	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGCTGGGTCCGGAGCCTGGGG	0.677													16	28					0	0	0	0	A	240061464	G	A	240061464	2	1	91	1	0	0	0	0	0	0	0	1	7059	1103	39	1		1	HDAC4	2	240061464	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	5764480	240061464	3137909	30	17626											
IQSEC1	9922	broad.mit.edu	37	chr3	12977740	12977740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtgtcccgggcccgcgccGcatccagggccggtgcctcc	2	5	15	19	6	0	0	0	0	0	0	3	0	3	0	7	4	1	1	7	4	0	0			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:12977740G>A	ENST00000273221.4	-	3	1034	c.818C>T	c.(817-819)gCg>gTg	p.A273V		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	273					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCCCGCGCCGCATCCAGGGC	0.642													8	24					0	0	0	0	A	12977740	G	A	12977740	3	1	91	1	0	0	0	0	1	0	0	0	7870	1087	38	1	2666	1	IQSEC1	3	12977740	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08		12977740	185044690	31	17627											
KCNH8	131096	broad.mit.edu	37	chr3	19498349	19498349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctttaacctactgtgatCtccagtgtatcatcctcaaa	11	13	6	11	0	3	1	2	1	1	0	5	1	4	1	3	1	2	2	3	1	4	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:19498349C>A	ENST00000328405.2	+	11	2181	c.1915C>A	c.(1915-1917)Ctc>Atc	p.L639I		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	639						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTACTGTGATCTCCAGTGTAT	0.403													21	50					5.26018e-13	1.52197e-11	1	0	A	19498349	C	A	19498349	3	1	91	1	0	0	0	0	1	0	0	0	8091	913	32	2	1957	2	KCNH8	3	19498349	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	6520609	19498349	178524081	32	17628											
XIRP1	165904	broad.mit.edu	37	chr3	39227609	39227609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgggatccggggatCacttccacccccaggcctta	6	8	12	15	1	1	0	1	0	0	0	3	2	3	2	5	5	1	2	5	5	1	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:39227609C>A	ENST00000340369.3	-	2	3556	c.3328G>T	c.(3328-3330)Gat>Tat	p.D1110Y	XIRP1_ENST00000396251.1_Missense_Mutation_p.D1110Y|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1110							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATCCGGGGATCACTTCCACCC	0.607													12	28					6.40141e-05	0.00159306	1	0	A	39227609	C	A	39227609	3	1	91	1	0	0	0	0	1	0	0	0	17525	826	29	2	2207	2	XIRP1	3	39227609	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	19729260	39227609	158794821	33	17629											
ZNF660	285349	broad.mit.edu	37	chr3	44636533	44636533	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgaatgtgggaaaacctTcaggcagacttctcaagtta	14	11	9	7	0	2	2	2	1	1	1	3	3	2	3	1	2	1	2	1	2	6	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:44636533T>A	ENST00000322734.2	+	3	1181	c.848T>A	c.(847-849)tTc>tAc	p.F283Y	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		GGGAAAACCTTCAGGCAGACT	0.413													11	25					0	0	0	0	A	44636533	T	A	44636533	3	1	91	1	0	0	0	0	1	0	0	0	18165	1783	62	5	850	5	ZNF660	3	44636533	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	5408924	44636533	153385897	34	17630											
CELSR3	1951	broad.mit.edu	37	chr3	48694142	48694142	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcaccggtgaagcgcGggcggcagacgcacgtgtag	7	5	16	13	6	1	2	1	1	0	1	1	2	1	2	2	3	2	4	2	3	2	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:48694142G>C	ENST00000544264.1	-	2	4668	c.4388C>G	c.(4387-4389)cCg>cGg	p.P1463R	CELSR3_ENST00000164024.4_Missense_Mutation_p.P1463R			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1463	EGF-like 2; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTGAAGCGCGGGCGGCAGAC	0.687													2	1					0	0	0	0	C	48694142	G	C	48694142	3	2	91	1	0	0	0	0	1	0	0	0	3252	1116	39	3	5686	3	CELSR3	3	48694142	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	4057609	48694142	149328288	35	17631											
IP6K1	9807	broad.mit.edu	37	chr3	49775724	49775724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaccggtgcaggctccggcGggagtgtttgcgccgaggtt	4	9	18	10	5	0	1	0	1	0	0	1	3	1	2	3	5	2	4	3	5	0	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:49775724G>C	ENST00000321599.4	-	3	656	c.355C>G	c.(355-357)Cgc>Ggc	p.R119G	IP6K1_ENST00000460540.1_5'UTR|IP6K1_ENST00000395238.1_5'UTR|IP6K1_ENST00000468463.1_Missense_Mutation_p.R119G	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	119					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.R119S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						AGGCTCCGGCGGGAGTGTTTG	0.542													4	39					0	0	0	0	C	49775724	G	C	49775724	3	2	91	1	0	0	0	0	1	0	0	0	7841	1116	39	3	986	3	IP6K1	3	49775724	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	1081582	49775724	148246706	36	17632											
SEMA3F	6405	broad.mit.edu	37	chr3	50212549	50212549	+	Frame_Shift_Del	DEL	T	T	-																															gccacaccatggacccagacTcaggcggtcagaggccgcgg																										TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:50212549delT	ENST00000002829.3	+	6	961	c.477delT	c.(475-477)acfs	p.T159fs	SEMA3F_ENST00000413852.1_Intron|SEMA3F_ENST00000434342.1_Intron	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	159	Sema.			Missing (in Ref. 2).	axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GGACCCAGACTCAGGCGGTCA	0.697													2	4	---	---	---	---					-	50212549	T	-	50212549	7	5	91	1	0	1	0	1	0	0	0	0	14116	1538	54	0	495	0	SEMA3F	3	50212549	Frame_Shift_Del	DEL	T	TCGA-CN-6010-01A-11D-1683-08	436825	50212549	147809881	37	17633											
PTPRG	5793	broad.mit.edu	37	chr3	62153671	62153671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttttattccatcttcacCacggagcagcaagaccatgt	10	12	7	12	1	2	1	1	0	1	1	3	2	3	2	3	1	2	3	3	1	2	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:62153671C>T	ENST00000474889.1	+	8	1244	c.867C>T	c.(865-867)acC>acT	p.T289T	PTPRG_ENST00000295874.10_Silent_p.T289T	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	289	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCATCTTCACCACGGAGCAGC	0.473													7	46					0	0	0	0	T	62153671	C	T	62153671	2	4	91	1	0	0	0	0	0	0	0	1	12884	581	21	4		4	PTPRG	3	62153671	Silent	SNP	C	TCGA-CN-6010-01A-11D-1683-08	11941122	62153671	135868759	38	17634											
CCDC14	64770	broad.mit.edu	37	chr3	123665745	123665745	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttttgccttctgtacaTccttcactgtttttgtatct	5	22	4	10	0	3	0	1	0	2	0	4	0	4	0	2	0	2	3	2	0	2	9			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:123665745T>A	ENST00000485727.1	-	4	5242	c.650A>T	c.(649-651)gAt>gTt	p.D217V	CCDC14_ENST00000488653.2_Missense_Mutation_p.D417V|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000433542.2_Missense_Mutation_p.D376V|CCDC14_ENST00000489746.1_Missense_Mutation_p.D217V|CCDC14_ENST00000310351.4_Missense_Mutation_p.D257V			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	417						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		CTTCTGTACATCCTTCACTGT	0.383													29	157					0	0	0	0	A	123665745	T	A	123665745	3	1	91	1	0	0	0	0	1	0	0	0	2798	1435	50	5	1635	5	CCDC14	3	123665745	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	61512074	123665745	74356685	39	17635											
CLSTN2	64084	broad.mit.edu	37	chr3	140251222	140251222	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagtttcctgtggtaacCttatacatggatggagcaac	10	12	12	7	0	0	0	0	0	0	0	1	3	1	3	2	4	4	3	2	4	4	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:140251222C>A	ENST00000458420.3	+	9	1591	c.1401C>A	c.(1399-1401)acC>acA	p.T467T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	467					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTGTGGTAACCTTATACATGG	0.413										HNSCC(16;0.037)			17	124					5.35267e-07	1.42827e-05	1	0	A	140251222	C	A	140251222	2	1	91	1	0	0	0	0	0	0	0	1	3592	668	24	4		4	CLSTN2	3	140251222	Silent	SNP	C	TCGA-CN-6010-01A-11D-1683-08	16585477	140251222	57771208	40	17636											
TNIK	23043	broad.mit.edu	37	chr3	170858204	170858204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacctgttcatgctccgcaCgcctcctctcctcctcccgg	3	11	7	20	3	2	0	1	0	1	0	7	0	6	0	7	1	2	4	7	1	1	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:170858204C>A	ENST00000436636.2	-	13	1660	c.1316G>T	c.(1315-1317)cGt>cTt	p.R439L	TNIK_ENST00000357327.5_Missense_Mutation_p.R439L|TNIK_ENST00000470834.1_Missense_Mutation_p.R439L|TNIK_ENST00000460047.1_Missense_Mutation_p.R439L|TNIK_ENST00000538048.1_Missense_Mutation_p.R439L|TNIK_ENST00000284483.8_Missense_Mutation_p.R439L|TNIK_ENST00000369326.5_Missense_Mutation_p.R439L|TNIK_ENST00000341852.6_Missense_Mutation_p.R439L|TNIK_ENST00000488470.1_Missense_Mutation_p.R439L|TNIK_ENST00000475336.1_Missense_Mutation_p.R439L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	439	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ATGCTCCGCACGCCTCCTCTC	0.652													30	112					6.05902e-23	1.79639e-21	1	0	A	170858204	C	A	170858204	3	1	91	1	0	0	0	0	1	0	0	0	16407	536	19	3	2850	3	TNIK	3	170858204	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	30606982	170858204	27164226	41	17637											
PIK3CA	5290	broad.mit.edu	37	chr3	178948153	178948153	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaatgcacaaagacaagAgaatttgagaggtgagctcg	17	6	12	6	1	0	5	0	2	0	4	1	7	0	5	0	1	2	2	0	1	5	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:178948153A>T	ENST00000263967.3	+	20	3082	c.2925A>T	c.(2923-2925)agA>agT	p.R975S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	975	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CAAAGACAAGAGAATTTGAGA	0.323		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			12	245					0	0	0	0	T	178948153	A	T	178948153	3	4	91	1	0	0	0	0	1	0	0	0	11985	301	11	5	2999	5	PIK3CA	3	178948153	Missense_Mutation	SNP	A	TCGA-CN-6010-01A-11D-1683-08	8089949	178948153	19074277	42	17638											
TTC14	151613	broad.mit.edu	37	chr3	180321093	180321093	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtggtatcatgagagatatAgcccacttagaaatcacagt	15	10	9	7	0	2	3	2	1	0	2	2	4	2	3	1	1	1	1	1	1	5	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:180321093A>T	ENST00000412756.2	+	3	537	c.468A>T	c.(466-468)atA>atT	p.I156I	TTC14_ENST00000296015.4_Silent_p.I156I|TTC14_ENST00000382584.4_Silent_p.I156I	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	156	S1 motif.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGAGAGATATAGCCCACTTAG	0.358													16	170					0	0	0	0	T	180321093	A	T	180321093	2	4	91	1	0	0	0	0	0	0	0	1	16777	410	15	5		5	TTC14	3	180321093	Silent	SNP	A	TCGA-CN-6010-01A-11D-1683-08	1372940	180321093	17701337	43	17639											
ATP13A4	84239	broad.mit.edu	37	chr3	193166098	193166098	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcagcagccccagaaatatCaggtctgattctaccgtctc	11	10	7	13	1	5	2	2	1	3	1	6	2	5	2	3	1	3	1	3	1	3	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:193166098C>G	ENST00000342695.4	-	18	2371	c.2049G>C	c.(2047-2049)ctG>ctC	p.L683L	ATP13A4_ENST00000392443.3_Silent_p.L664L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	683					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAGAAATATCAGGTCTGATT	0.408													33	97					0	0	0	0	G	193166098	C	G	193166098	2	3	91	1	0	0	0	0	0	0	0	1	1130	813	29	2		2	ATP13A4	3	193166098	Silent	SNP	C	TCGA-CN-6010-01A-11D-1683-08	12845005	193166098	4856332	44	17640											
LDB2	9079	broad.mit.edu	37	chr4	16760797	16760797	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgtatcgctttggtccAtcttccaaacaaaatgaaag	13	13	6	9	1	1	1	0	1	1	0	4	1	3	1	2	1	2	2	2	1	6	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr4:16760797A>G	ENST00000502640.1	-	2	367	c.219T>C	c.(217-219)gaT>gaC	p.D73D	LDB2_ENST00000515064.1_Silent_p.D73D|LDB2_ENST00000441778.2_Silent_p.D73D|LDB2_ENST00000304523.5_Silent_p.D73D			O43679	LDB2_HUMAN	LIM domain binding 2	73							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GCTTTGGTCCATCTTCCAAAC	0.418													11	52					0	0	0	0	G	16760797	A	G	16760797	2	3	91	1	0	0	0	0	0	0	0	1	8749	214	8	5		5	LDB2	4	16760797	Silent	SNP	A	TCGA-CN-6010-01A-11D-1683-08		16760797	174393479	45	17641											
INTS12	57117	broad.mit.edu	37	chr4	106621142	106621142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaatgggatcaagttcCaagttcacagtagcagccat	17	8	8	8	0	2	0	2	0	0	0	3	1	3	1	2	1	2	4	2	1	6	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr4:106621142C>A	ENST00000451321.2	-	2	500	c.21G>T	c.(19-21)ttG>ttT	p.L7F	INTS12_ENST00000394735.1_Missense_Mutation_p.L7F|INTS12_ENST00000340139.5_Missense_Mutation_p.L7F	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	7					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GATCAAGTTCCAAGTTCACAG	0.358													10	168					0.000151284	0.00370724	1	0	A	106621142	C	A	106621142	3	1	91	1	0	0	0	0	1	0	0	0	7830	593	21	4	1391	4	INTS12	4	106621142	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	89860345	106621142	84533134	46	17642											
PCDH10	57575	broad.mit.edu	37	chr4	134072296	134072296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtgcaagccaaggacctggGccccaacgccgtgcctgcgc	7	4	13	17	4	0	0	0	0	0	0	0	1	0	1	6	2	5	1	6	2	3	0			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr4:134072296G>T	ENST00000264360.4	+	1	1827	c.1001G>T	c.(1000-1002)gGc>gTc	p.G334V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	334	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAGGACCTGGGCCCCAACGCC	0.597													11	40					3.86212e-05	0.000976303	1	0	T	134072296	G	T	134072296	3	4	91	1	0	0	0	0	1	0	0	0	11578	1203	42	4	1003	4	PCDH10	4	134072296	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	27451154	134072296	57081980	47	17643											
MTNR1A	4543	broad.mit.edu	37	chr4	187455231	187455231	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttgggtttgcggtcaggtTtcaccctctgtctgacctgg	3	15	13	10	1	4	1	2	1	2	0	4	1	4	1	2	4	1	3	2	4	0	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr4:187455231T>A	ENST00000307161.5	-	2	866	c.665A>T	c.(664-666)aAa>aTa	p.K222I	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	222					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GCGGTCAGGTTTCACCCTCTG	0.478													14	78					0	0	0	0	A	187455231	T	A	187455231	3	1	91	1	0	0	0	0	1	0	0	0	10021	1841	64	5	391	5	MTNR1A	4	187455231	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	53382935	187455231	3699045	48	17644											
SPEF2	79925	broad.mit.edu	37	chr5	35641632	35641632	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccatggcatcatcacAgaaaagcctggggtggcaac	11	6	13	11	0	2	1	2	0	0	1	2	1	2	1	2	5	2	2	2	5	3	0			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:35641632A>C	ENST00000440995.2	+	3	261	c.261A>C	c.(259-261)acA>acC	p.T87T	SPEF2_ENST00000282469.6_Silent_p.T87T|SPEF2_ENST00000356031.3_Silent_p.T87T|SPEF2_ENST00000509059.1_Silent_p.T87T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	87	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCATCATCACAGAAAAGCCTG	0.438													10	83					0	0	0	0	C	35641632	A	C	35641632	2	2	91	1	0	0	0	0	0	0	0	1	15125	175	7	5		5	SPEF2	5	35641632	Silent	SNP	A	TCGA-CN-6010-01A-11D-1683-08		35641632	145273628	49	17645											
LMBRD2	92255	broad.mit.edu	37	chr5	36141228	36141228	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttaaaaattgtgacgTccaatacactaccctccaga	14	10	5	12	1	0	2	0	1	0	1	2	2	2	2	4	0	2	1	4	0	6	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:36141228T>C	ENST00000296603.4	-	4	811	c.349A>G	c.(349-351)Acg>Gcg	p.T117A		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	117						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATTGTGACGTCCAATACACT	0.313													30	103					0	0	0	0	C	36141228	T	C	36141228	3	2	91	1	0	0	0	0	1	0	0	0	8898	1667	58	5	1798	5	LMBRD2	5	36141228	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	499596	36141228	144774032	50	17646											
RNF180	285671	broad.mit.edu	37	chr5	63509383	63509383	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattcttctttattacctgtAggcccagtggacagttggaa	9	15	9	8	0	2	0	0	0	2	0	2	2	2	2	2	3	1	2	2	3	5	8			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:63509383A>T	ENST00000389100.4	+	4	303		c.e4-1		RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Splice_Site	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180							integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		TATTACCTGTAGGCCCAGTGG	0.398													28	107					0	0	0	0	T	63509383	A	T	63509383	5	4	91	1	0	0	0	0	0	0	1	0	13549	434	15	5	240	5	RNF180	5	63509383	Splice_Site	SNP	A	TCGA-CN-6010-01A-11D-1683-08	27368155	63509383	117405877	51	17647											
GPR98	84059	broad.mit.edu	37	chr5	90004696	90004696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttacgttggacttaccatgGctgcttcaacttcatttcct	7	16	6	12	1	2	0	2	0	0	0	3	1	3	1	2	2	4	3	2	2	3	6			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:90004696G>T	ENST00000405460.2	+	39	8890	c.8794G>T	c.(8794-8796)Gct>Tct	p.A2932S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2932					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTTACCATGGCTGCTTCAAC	0.343													32	52					6.05902e-23	1.79639e-21	1	0	T	90004696	G	T	90004696	3	4	91	1	0	0	0	0	1	0	0	0	6771	1203	42	4	8948	4	GPR98	5	90004696	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	26495313	90004696	90910564	52	17648											
SLC22A5	6584	broad.mit.edu	37	chr5	131714117	131714117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccccactcacaatctcCttgttcttcgtgggtgtgct	6	13	9	13	1	3	0	1	0	2	0	5	0	3	0	3	2	1	2	3	2	2	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:131714117C>T	ENST00000245407.3	+	2	662	c.441C>T	c.(439-441)tcC>tcT	p.S147S	SLC22A5_ENST00000435065.2_Silent_p.S171S	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	147					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TCACAATCTCCTTGTTCTTCG	0.507													18	117					0	0	0	0	T	131714117	C	T	131714117	2	4	91	1	0	0	0	0	0	0	0	1	14545	668	24	4		4	SLC22A5	5	131714117	Silent	SNP	C	TCGA-CN-6010-01A-11D-1683-08	41709421	131714117	49201143	53	17649											
CXXC5	51523	broad.mit.edu	37	chr5	139060331	139060331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaacaagagcctgcgcCgctcccgcccgctctcccac	6	5	7	23	4	2	1	1	0	1	1	4	1	3	1	6	0	3	2	6	0	2	0			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:139060331C>T	ENST00000302517.3	+	2	937	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	CXXC5_ENST00000511048.1_Missense_Mutation_p.R75C	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	75					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	p.R75C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCTGCGCCGCTCCCGCCC	0.647													7	24					0	0	0	0	T	139060331	C	T	139060331	3	4	91	1	0	0	0	0	1	0	0	0	4131	652	23	1	225	1	CXXC5	5	139060331	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	7346214	139060331	41854929	54	17650											
PCDHA5	56143	broad.mit.edu	37	chr5	140202711	140202711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccgacgtgaacgacaacGctccggcgttcgcgcagccc	7	5	13	16	8	0	1	0	1	0	0	2	3	1	1	3	2	3	3	3	2	2	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:140202711G>A	ENST00000529859.1	+	1	1351	c.1351G>A	c.(1351-1353)Gct>Act	p.A451T	PCDHA5_ENST00000529619.1_Missense_Mutation_p.A451T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A451T	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCTCCGGCGTT	0.667													11	23					0	0	0	0	A	140202711	G	A	140202711	3	1	91	1	0	0	0	0	1	0	0	0	11598	1087	38	1	1353	1	PCDHA5	5	140202711	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	1142380	140202711	40712549	55	17651											
PCDHA7	56141	broad.mit.edu	37	chr5	140216085	140216085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatcatcgccatctgcgCggtgtccagtctgttggtgc	4	12	12	13	3	3	1	1	1	2	0	5	1	4	1	3	2	2	1	3	2	0	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:140216085C>T	ENST00000525929.1	+	1	2117	c.2117C>T	c.(2116-2118)gCg>gTg	p.A706V	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A706V	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCATCTGCGCGGTGTCCAGT	0.617													7	19					0	0	0	0	T	140216085	C	T	140216085	3	4	91	1	0	0	0	0	1	0	0	0	11600	768	27	1	2119	1	PCDHA7	5	140216085	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	13374	140216085	40699175	56	17652											
PCDHA7	56141	broad.mit.edu	37	chr5	140216146	140216146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttgcggtgctcagcgccGtcctctgagggcgcatgtag	4	9	16	12	5	2	1	1	1	1	0	3	1	3	1	2	2	3	4	2	2	1	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:140216146G>A	ENST00000525929.1	+	1	2178	c.2178G>A	c.(2176-2178)ccG>ccA	p.P726P	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.P726P	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGCGCCGTCCTCTGAGG	0.612													11	16					0	0	0	0	A	140216146	G	A	140216146	2	1	91	1	0	0	0	0	0	0	0	1	11600	1132	40	1		1	PCDHA7	5	140216146	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	61	140216146	40699114	57	17653											
PCDHB11	56125	broad.mit.edu	37	chr5	140579439	140579439	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcgggctctgaaacctGgagcttttctgtggcagaag	8	10	14	9	1	3	2	1	1	2	1	3	3	3	3	1	4	2	3	1	4	2	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:140579439G>A	ENST00000354757.3	+	1	92	c.92G>A	c.(91-93)tGg>tAg	p.W31*	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		31					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGAAACCTGGAGCTTTTCT	0.527													7	29					0	0	0	0	A	140579439	G	A	140579439	4	1	91	1	0	0	0	0	0	1	0	0	11607	1357	47	4	94	4	PCDHB11	5	140579439	Nonsense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	363293	140579439	40335821	58	17654											
PCDHGA4	56111	broad.mit.edu	37	chr5	140735676	140735676	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgagtggggatataacaatAttggggggtctagattatga	12	12	14	3	0	1	3	0	2	1	1	1	4	1	4	0	5	1	0	0	5	6	6			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:140735676A>T	ENST00000571252.1	+	1	909	c.909A>T	c.(907-909)atA>atT	p.I303I	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATAACAATATTGGGGGGTC	0.443													5	18					0	0	0	0	T	140735676	A	T	140735676	2	4	91	1	0	0	0	0	0	0	0	1	11627	439	16	5		5	PCDHGA4	5	140735676	Silent	SNP	A	TCGA-CN-6010-01A-11D-1683-08	156237	140735676	40179584	59	17655											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788007	140788007	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgcacttcagcgtagacgcgGagagcggggacttacttgtg	8	9	15	9	4	1	2	1	0	0	2	1	4	1	3	0	3	4	2	0	3	2	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:140788007G>C	ENST00000520790.1	+	1	238	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTAGACGCGGAGAGCGGGGA	0.537													18	34					0	0	0	0	C	140788007	G	C	140788007	3	2	91	1	0	0	0	0	1	0	0	0	11638	1175	41	2	240	2	PCDHGB6	5	140788007	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	52331	140788007	40127253	60	17656											
STK32A	202374	broad.mit.edu	37	chr5	146752790	146752790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgatgtccagaacttccCgtatatgaatgatataaact	14	13	6	8	1	1	4	0	3	1	1	3	4	3	4	2	0	2	1	2	0	7	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:146752790C>A	ENST00000397936.3	+	10	1169	c.836C>A	c.(835-837)cCg>cAg	p.P279Q	STK32A_ENST00000398523.3_Missense_Mutation_p.P279Q	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	279	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P279Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAACTTCCCGTATATGAAT	0.398													7	90					0.000157383	0.00379855	1	0	A	146752790	C	A	146752790	3	1	91	1	0	0	0	0	1	0	0	0	15387	652	23	3	903	3	STK32A	5	146752790	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	5964783	146752790	34162470	61	17657											
LARP1	23367	broad.mit.edu	37	chr5	154179306	154179306	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgttccccgtcagcactaCcaaaaggagacaggtaggta	12	9	10	10	1	1	1	1	0	0	1	2	2	2	1	3	3	2	4	3	3	5	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:154179306C>T	ENST00000336314.4	+	9	1326	c.1302C>T	c.(1300-1302)taC>taT	p.Y434Y		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	511	HTH La-type RNA-binding.						protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTCAGCACTACCAAAAGGAGA	0.527													18	26					0	0	0	0	T	154179306	C	T	154179306	2	4	91	1	0	0	0	0	0	0	0	1	8681	518	18	4		4	LARP1	5	154179306	Silent	SNP	C	TCGA-CN-6010-01A-11D-1683-08	7426516	154179306	26735954	62	17658											
KIF4B	285643	broad.mit.edu	37	chr5	154394225	154394225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattaaccgaggcctcctatGcttgggaaatgtaatcagtg	11	12	10	8	1	1	0	1	0	0	0	2	2	2	1	3	2	2	2	3	2	5	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:154394225G>A	ENST00000435029.4	+	1	966	c.806G>A	c.(805-807)tGc>tAc	p.C269Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	269	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCCTCCTATGCTTGGGAAAT	0.443													15	58					0	0	0	0	A	154394225	G	A	154394225	3	1	91	1	0	0	0	0	1	0	0	0	8355	1319	46	4	808	4	KIF4B	5	154394225	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	214919	154394225	26521035	63	17659											
HAVCR1	26762	broad.mit.edu	37	chr5	156469687	156469687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagactctgtcacggtgtcaTtcccatctactcaacaagaa	13	10	6	12	1	5	2	3	0	2	2	6	2	6	2	1	1	2	0	1	1	5	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:156469687T>C	ENST00000339252.3	-	5	1320	c.788A>G	c.(787-789)aAt>aGt	p.N263S	HAVCR1_ENST00000425854.1_Missense_Mutation_p.N263S|HAVCR1_ENST00000544197.1_Missense_Mutation_p.N263S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.N263S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.N263S|HAVCR1_ENST00000517644.1_5'UTR	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	258					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACGGTGTCATTCCCATCTAC	0.353													16	83					0	0	0	0	C	156469687	T	C	156469687	3	2	91	1	0	0	0	0	1	0	0	0	7023	1493	52	5	322	5	HAVCR1	5	156469687	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	2075462	156469687	24445573	64	17660											
FABP6	2172	broad.mit.edu	37	chr5	159659192	159659192	+	Frame_Shift_Del	DEL	A	A	-																															gcaggacttcacttggtcccAgcactactccgggggccaca																										TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:159659192delA	ENST00000393980.4	+	5	448	c.302delA	c.(301-303)cgfs	p.Q101fs	FABP6_ENST00000402432.3_Frame_Shift_Del_p.Q52fs|FABP6_ENST00000393982.1_Frame_Shift_Del_p.Q101fs	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	52					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTGGTCCCAGCACTACTCC	0.567													2	4	---	---	---	---					-	159659192	A	-	159659192	7	5	91	1	0	1	0	1	0	0	0	0	5402	188	7	0	316	0	FABP6	5	159659192	Frame_Shift_Del	DEL	A	TCGA-CN-6010-01A-11D-1683-08	3189505	159659192	21256068	65	17661											
UBTD2	92181	broad.mit.edu	37	chr5	171639129	171639129	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggaatatccagagtcTctatgtcgctcttttcctct	7	15	7	12	1	4	1	1	0	3	1	8	2	6	2	2	1	0	2	2	1	3	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:171639129T>C	ENST00000393792.2	-	3	815	c.410A>G	c.(409-411)gAg>gGg	p.E137G		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	137						cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATCCAGAGTCTCTATGTCGCT	0.488													32	29					0	0	0	0	C	171639129	T	C	171639129	3	2	91	1	0	0	0	0	1	0	0	0	17004	1551	54	5	298	5	UBTD2	5	171639129	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	11979937	171639129	9276131	66	17662											
NKAPL	222698	broad.mit.edu	37	chr6	28227756	28227756	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagcataggaaatattctGatagtgacagtaactcagag	17	9	10	5	0	2	3	1	2	1	1	2	5	2	4	0	1	2	2	0	1	6	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr6:28227756G>C	ENST00000343684.3	+	1	659	c.607G>C	c.(607-609)Gat>Cat	p.D203H		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	203	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAAATATTCTGATAGTGACAG	0.333													19	51					0	0	0	0	C	28227756	G	C	28227756	3	2	91	1	0	0	0	0	1	0	0	0	10510	1290	45	2	609	2	NKAPL	6	28227756	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08		28227756	142887311	67	17663											
TFB1M	51106	broad.mit.edu	37	chr6	155632378	155632378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagaagttcagcgacgtCggcattaagaatagatcttg	13	9	10	9	3	2	3	1	0	1	3	3	4	2	3	1	1	1	2	1	1	4	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr6:155632378C>A	ENST00000367166.4	-	2	284	c.229G>T	c.(229-231)Gac>Tac	p.D77Y	TFB1M_ENST00000480390.1_5'UTR	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TCAGCGACGTCGGCATTAAGA	0.438													22	61					1.96895e-08	5.56286e-07	1	0	A	155632378	C	A	155632378	3	1	91	1	0	0	0	0	1	0	0	0	15887	884	31	3	835	3	TFB1M	6	155632378	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	127404622	155632378	15482689	68	17664											
RBAK	57786	broad.mit.edu	37	chr7	5103754	5103754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaggctgtttttattgctCataagagagcttacataggg	11	14	11	5	0	1	2	1	1	0	1	1	3	1	2	0	2	3	4	0	2	4	7			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:5103754C>G	ENST00000396912.1	+	5	1186	c.667C>G	c.(667-669)Cat>Gat	p.H223D	RBAK_ENST00000353796.3_Missense_Mutation_p.H223D|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	223	Required for interaction with RB1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TTTTATTGCTCATAAGAGAGC	0.348													12	45					0	0	0	0	G	5103754	C	G	5103754	3	3	91	1	0	0	0	0	1	0	0	0	13182	826	29	2	681	2	RBAK	7	5103754	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08		5103754	154034909	69	17665											
HDAC9	9734	broad.mit.edu	37	chr7	18687544	18687544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tactttagagggaaagccacCcaacagcagccaccaggctc	13	5	9	14	0	0	1	0	0	0	1	1	2	0	2	4	2	5	2	4	2	4	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:18687544C>T	ENST00000406451.3	+	10	1313	c.1163C>T	c.(1162-1164)cCc>cTc	p.P388L	HDAC9_ENST00000441542.2_Missense_Mutation_p.P391L|HDAC9_ENST00000406072.1_Missense_Mutation_p.P375L|HDAC9_ENST00000432645.2_Missense_Mutation_p.P388L|HDAC9_ENST00000405010.3_Missense_Mutation_p.P388L|HDAC9_ENST00000401921.1_Missense_Mutation_p.P347L|HDAC9_ENST00000524023.1_Missense_Mutation_p.P311L|HDAC9_ENST00000456174.2_Missense_Mutation_p.P360L|HDAC9_ENST00000417496.2_Missense_Mutation_p.P386L|HDAC9_ENST00000428307.2_Missense_Mutation_p.P344L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	388					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGAAAGCCACCCAACAGCAGC	0.502													4	8					0	0	0	0	T	18687544	C	T	18687544	3	4	91	1	0	0	0	0	1	0	0	0	7064	623	22	4	1206	4	HDAC9	7	18687544	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	13583790	18687544	140451119	70	17666											
NUPL2	11097	broad.mit.edu	37	chr7	23240136	23240136	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggctggttttggtagtccGggctcacattctcacactgc	5	13	12	11	1	2	0	2	0	1	0	4	0	3	0	1	4	1	4	1	4	1	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:23240136G>C	ENST00000258742.5	+	7	1303	c.1044G>C	c.(1042-1044)ccG>ccC	p.P348P		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	348	Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGGTAGTCCGGGCTCACATT	0.507													4	95					0	0	0	0	C	23240136	G	C	23240136	2	2	91	1	0	0	0	0	0	0	0	1	10846	1103	39	3		3	NUPL2	7	23240136	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	4552592	23240136	135898527	71	17667											
SCRN1	9805	broad.mit.edu	37	chr7	29983623	29983623	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcagcccagtacttccCtatggtctcgagcacccagg	7	8	10	16	2	1	0	0	0	1	0	4	1	2	0	3	3	3	3	3	3	2	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:29983623C>G	ENST00000426154.1	-	4	690	c.514G>C	c.(514-516)Ggg>Cgg	p.G172R	SCRN1_ENST00000416113.2_Missense_Mutation_p.G63R|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172R|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172R	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	172					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CAGTACTTCCCTATGGTCTCG	0.527													7	45					0	0	0	0	G	29983623	C	G	29983623	3	3	91	1	0	0	0	0	1	0	0	0	14025	681	24	4	750	4	SCRN1	7	29983623	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	6743487	29983623	129155040	72	17668											
YWHAG	7532	broad.mit.edu	37	chr7	75958917	75958917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgttgccttcgccgccatCgtcgtcctgctggtcgctcg	2	13	11	15	6	0	0	0	0	0	0	6	0	1	0	4	1	2	3	4	1	0	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:75958917C>T	ENST00000307630.3	-	2	943	c.721G>A	c.(721-723)Gat>Aat	p.D241N		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	241					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						TCGCCGCCATCGTCGTCCTGC	0.587													8	8					0	0	0	0	T	75958917	C	T	75958917	3	4	91	1	0	0	0	0	1	0	0	0	17599	884	31	1	26	1	YWHAG	7	75958917	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	45975294	75958917	83179746	73	17669											
SEMA3E	9723	broad.mit.edu	37	chr7	83035320	83035320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtactgagcaaacgagtctcGcttttaggaaagtgctccac	11	10	10	10	2	1	1	0	1	1	0	3	3	2	2	1	1	4	4	1	1	4	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:83035320G>C	ENST00000307792.3	-	8	1336	c.869C>G	c.(868-870)gCg>gGg	p.A290G	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A230G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	290	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AACGAGTCTCGCTTTTAGGAA	0.348													6	154					0	0	0	0	C	83035320	G	C	83035320	3	2	91	1	0	0	0	0	1	0	0	0	14115	1087	38	3	1498	3	SEMA3E	7	83035320	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	7076403	83035320	76103343	74	17670											
ABCB4	5244	broad.mit.edu	37	chr7	87069700	87069700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacattaaagttcctaatatCctgcccatcaatgttaatct	13	15	3	10	0	2	0	1	0	1	0	4	0	4	0	3	0	2	2	3	0	7	6			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:87069700C>A	ENST00000265723.4	-	13	1486	c.1375G>T	c.(1375-1377)Gat>Tat	p.D459Y	ABCB4_ENST00000453593.1_Missense_Mutation_p.D459Y|ABCB4_ENST00000359206.3_Missense_Mutation_p.D459Y|ABCB4_ENST00000358400.3_Missense_Mutation_p.D459Y|ABCB4_ENST00000545634.1_Missense_Mutation_p.D459Y	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	459	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTCCTAATATCCTGCCCATCA	0.348													9	46					5.68852e-11	1.63605e-09	1	0	A	87069700	C	A	87069700	3	1	91	1	0	0	0	0	1	0	0	0	43	855	30	2	2549	2	ABCB4	7	87069700	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	4034380	87069700	72068963	75	17671											
MUC17	140453	broad.mit.edu	37	chr7	100681270	100681270	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttgacaccagcacaccTgtgaccaattctactgaagc	11	9	7	14	0	1	3	0	3	1	0	1	3	1	3	4	0	3	2	4	0	3	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:100681270T>C	ENST00000306151.4	+	3	6637	c.6573T>C	c.(6571-6573)ccT>ccC	p.P2191P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2191	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGCACACCTGTGACCAATT	0.483													21	192					0	0	0	0	C	100681270	T	C	100681270	2	2	91	1	0	0	0	0	0	0	0	1	10044	1567	55	5		5	MUC17	7	100681270	Silent	SNP	T	TCGA-CN-6010-01A-11D-1683-08	13611570	100681270	58457393	76	17672											
LRRC17	10234	broad.mit.edu	37	chr7	102574878	102574878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacttgtgagatagaaaCgcttatttcaatgttgcaga	12	14	9	6	1	1	3	1	1	0	3	1	4	1	3	0	0	3	4	0	0	5	6			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:102574878C>T	ENST00000249377.4	+	2	799	c.518C>T	c.(517-519)aCg>aTg	p.T173M	LRRC17_ENST00000339431.4_Missense_Mutation_p.T173M|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	173	LRRCT 1.				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAGATAGAAACGCTTATTTCA	0.433													12	103					0	0	0	0	T	102574878	C	T	102574878	3	4	91	1	0	0	0	0	1	0	0	0	9037	536	19	1	520	1	LRRC17	7	102574878	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	1893608	102574878	56563785	77	17673											
RELN	5649	broad.mit.edu	37	chr7	103207105	103207105	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcgcgtcctgtggcaGgtcaatggaaatgatctgtg	7	13	13	8	2	3	1	1	1	2	0	5	2	4	2	1	3	0	1	1	3	2	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:103207105G>C	ENST00000428762.1	-	32	4849	c.4690C>G	c.(4690-4692)Ctg>Gtg	p.L1564V	RELN_ENST00000343529.5_Missense_Mutation_p.L1564V|RELN_ENST00000424685.2_Missense_Mutation_p.L1564V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1564					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCTGTGGCAGGTCAATGGAA	0.473													7	41					0	0	0	0	C	103207105	G	C	103207105	3	2	91	1	0	0	0	0	1	0	0	0	13302	991	35	4	5828	4	RELN	7	103207105	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	632227	103207105	55931558	78	17674											
PTPRZ1	5803	broad.mit.edu	37	chr7	121701229	121701229	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacagtaatggtgcagcAttgcctgatggaaatatagc	12	10	12	7	0	0	1	0	1	0	0	0	3	0	3	1	3	4	3	1	3	4	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:121701229A>C	ENST00000393386.2	+	30	7314	c.6903A>C	c.(6901-6903)gcA>gcC	p.A2301A	PTPRZ1_ENST00000449182.1_Silent_p.A1434A	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2301					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATGGTGCAGCATTGCCTGATG	0.448													24	38					0	0	0	0	C	121701229	A	C	121701229	2	2	91	1	0	0	0	0	0	0	0	1	12896	204	8	5		5	PTPRZ1	7	121701229	Silent	SNP	A	TCGA-CN-6010-01A-11D-1683-08	18494124	121701229	37437434	79	17675											
IQUB	154865	broad.mit.edu	37	chr7	123097503	123097503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagaagaatgcagttccaggGggaccactccagggatttat	13	8	12	8	0	0	2	0	0	0	2	2	4	2	4	3	3	1	2	3	3	4	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:123097503G>A	ENST00000466202.1	-	12	2701	c.2125C>T	c.(2125-2127)Ccc>Tcc	p.P709S	IQUB_ENST00000324698.6_Missense_Mutation_p.P709S|RP11-332K15.1_ENST00000419832.1_RNA			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	709										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CAGTTCCAGGGGGACCACTCC	0.453													18	96					0	0	0	0	A	123097503	G	A	123097503	3	1	91	1	0	0	0	0	1	0	0	0	7873	1232	43	4	258	4	IQUB	7	123097503	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	1396274	123097503	36041160	80	17676											
FLNC	2318	broad.mit.edu	37	chr7	128492757	128492757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagcatccgtgccccctcGggcaacgaggagccctgcct	6	5	12	18	3	0	0	0	0	0	0	2	2	1	1	6	2	5	2	6	2	1	0			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:128492757G>A	ENST00000325888.8	+	36	6216	c.5955G>A	c.(5953-5955)tcG>tcA	p.S1985S	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.S1952S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1985					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						GTGCCCCCTCGGGCAACGAGG	0.657													6	22					0	0	0	0	A	128492757	G	A	128492757	2	1	91	1	0	0	0	0	0	0	0	1	5980	1103	39	1		1	FLNC	7	128492757	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	5395254	128492757	30645906	81	17677											
PRSS1	5644	broad.mit.edu	37	chr7	142460848	142460848	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatgtgaaatggattaagAacaccatagctgccaatagc	16	9	8	8	0	0	2	0	1	0	1	0	3	0	3	2	1	4	1	2	1	7	4	rs141554682	byFrequency	TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:142460848A>T	ENST00000486171.1	+	6	780	c.763A>T	c.(763-765)Aac>Tac	p.N255Y	PRSS1_ENST00000311737.7_Missense_Mutation_p.N241Y			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	241					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATGGATTAAGAACACCATAGC	0.493													7	32					0	0	0	0	T	142460848	A	T	142460848	3	4	91	1	0	0	0	0	1	0	0	0	12693	246	9	5	739	5	PRSS1	7	142460848	Missense_Mutation	SNP	A	TCGA-CN-6010-01A-11D-1683-08	13968091	142460848	16677815	82	17678											
CNTNAP2	26047	broad.mit.edu	37	chr7	147183067	147183067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatggtggaaagtgctcgCaaacatgggacagcttcaaa	14	7	12	8	1	1	0	1	0	0	0	2	2	1	2	0	3	4	4	0	3	3	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:147183067C>G	ENST00000361727.3	+	11	2227	c.1711C>G	c.(1711-1713)Caa>Gaa	p.Q571E		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	571	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAGTGCTCGCAAACATGGGA	0.443										HNSCC(39;0.1)			17	77					0	0	0	0	G	147183067	C	G	147183067	3	3	91	1	0	0	0	0	1	0	0	0	3677	711	25	4	1753	4	CNTNAP2	7	147183067	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	4722219	147183067	11955596	83	17679											
TUSC3	7991	broad.mit.edu	37	chr8	15519695	15519695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagaccacccaactactctGgtaccattgctttggccctg	8	11	7	15	0	2	1	1	0	1	1	2	1	2	1	4	2	4	2	4	2	3	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr8:15519695G>T	ENST00000382020.4	+	5	806	c.598G>T	c.(598-600)Ggt>Tgt	p.G200C	TUSC3_ENST00000506802.1_Missense_Mutation_p.G200C|TUSC3_ENST00000503731.1_Missense_Mutation_p.G200C|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000509380.1_Missense_Mutation_p.G200C	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	200					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CAACTACTCTGGTACCATTGC	0.368													8	117					0.000274275	0.0065215	1	0	T	15519695	G	T	15519695	3	4	91	1	0	0	0	0	1	0	0	0	16874	1348	47	4	616	4	TUSC3	8	15519695	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08		15519695	130844327	84	17680											
HMBOX1	79618	broad.mit.edu	37	chr8	28906499	28906499	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctggagagtcatgggatAgatgtgcagagtccaggagg	11	8	16	6	0	1	3	1	0	0	3	3	6	3	5	2	4	1	1	2	4	1	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr8:28906499A>T	ENST00000397358.3	+	10	1763	c.1059A>T	c.(1057-1059)atA>atT	p.I353I	HMBOX1_ENST00000355231.5_Silent_p.I352I|HMBOX1_ENST00000519047.1_Silent_p.I352I|HMBOX1_ENST00000287701.10_Silent_p.I353I|HMBOX1_ENST00000444075.1_Silent_p.I352I|HMBOX1_ENST00000517386.1_3'UTR|HMBOX1_ENST00000558662.1_Silent_p.I352I|HMBOX1_ENST00000523613.1_Silent_p.I353I|HMBOX1_ENST00000524238.1_Silent_p.I352I	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	353					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GTCATGGGATAGATGTGCAGA	0.473													13	127					0	0	0	0	T	28906499	A	T	28906499	2	4	91	1	0	0	0	0	0	0	0	1	7268	410	15	5		5	HMBOX1	8	28906499	Silent	SNP	A	TCGA-CN-6010-01A-11D-1683-08	13386804	28906499	117457523	85	17681											
PEX2	5828	broad.mit.edu	37	chr8	77896369	77896369	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcatccaactggcttattcTtagcactctgtttgcactct	7	16	6	12	0	3	0	0	0	3	0	4	0	4	0	1	1	4	5	1	1	3	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr8:77896369T>A	ENST00000419564.2	-	4	510	c.46A>T	c.(46-48)Aga>Tga	p.R16*	PEX2_ENST00000522527.1_Nonsense_Mutation_p.R16*|PEX2_ENST00000520103.1_Nonsense_Mutation_p.R16*|PEX2_ENST00000357039.4_Nonsense_Mutation_p.R16*	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	16					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						TGGCTTATTCTTAGCACTCTG	0.423													14	104					0	0	0	0	A	77896369	T	A	77896369	4	1	91	1	0	0	0	0	0	1	0	0	11817	1617	56	5	875	5	PEX2	8	77896369	Nonsense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	48989870	77896369	68467653	86	17682											
VPS13B	157680	broad.mit.edu	37	chr8	100493917	100493917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaacctatctccaacctctCcagagaccatggcagggcct	10	8	7	16	0	3	1	1	0	2	1	5	2	3	1	6	2	2	1	6	2	3	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr8:100493917C>A	ENST00000395996.1	+	25	3868	c.3757C>A	c.(3757-3759)Cca>Aca	p.P1253T	VPS13B_ENST00000357162.2_Missense_Mutation_p.P1253T|VPS13B_ENST00000358544.2_Missense_Mutation_p.P1253T			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1253					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCAACCTCTCCAGAGACCAT	0.483													7	132					1.06961e-07	2.91895e-06	1	0	A	100493917	C	A	100493917	3	1	91	1	0	0	0	0	1	0	0	0	17286	855	30	2	3974	2	VPS13B	8	100493917	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	22597548	100493917	45870105	87	17683											
MPDZ	8777	broad.mit.edu	37	chr9	13247788	13247788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgctctgctgcatgcaggGcccgatttttgtctatacca	7	12	10	12	2	2	0	0	0	2	0	2	1	2	0	2	1	5	4	2	1	2	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr9:13247788G>T	ENST00000319217.7	-	3	276	c.29C>A	c.(28-30)gCc>gAc	p.A10D	MPDZ_ENST00000541718.1_Missense_Mutation_p.A10D|MPDZ_ENST00000381022.2_Missense_Mutation_p.A10D|MPDZ_ENST00000447879.1_Missense_Mutation_p.A10D|MPDZ_ENST00000546205.1_Missense_Mutation_p.A10D|MPDZ_ENST00000381015.4_Missense_Mutation_p.A10D|MPDZ_ENST00000536827.1_Missense_Mutation_p.A10D	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	10	L27.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGCATGCAGGGCCCGATTTTT	0.468													8	200					0.000274275	0.0065215	1	0	T	13247788	G	T	13247788	3	4	91	1	0	0	0	0	1	0	0	0	9792	1203	42	4	6272	4	MPDZ	9	13247788	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08		13247788	127965643	88	17684											
ELAVL2	1993	broad.mit.edu	37	chr9	23704954	23704954	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatacgagaagtaataatgCgtccatattgtgaaaaaagc	18	9	9	5	2	0	2	0	1	0	1	1	4	1	2	1	0	3	1	1	0	9	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr9:23704954C>G	ENST00000397312.2	-	4	723	c.449G>C	c.(448-450)cGc>cCc	p.R150P	ELAVL2_ENST00000380117.1_Missense_Mutation_p.R150P|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R150P|ELAVL2_ENST00000223951.6_Missense_Mutation_p.R150P|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R179P	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	150	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AGTAATAATGCGTCCATATTG	0.423													9	120					0	0	0	0	G	23704954	C	G	23704954	3	3	91	1	0	0	0	0	1	0	0	0	5088	768	27	3	646	3	ELAVL2	9	23704954	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	10457166	23704954	117508477	89	17685											
PLAA	9373	broad.mit.edu	37	chr9	26905576	26905576	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttctgatactgaggaatacTtttttatttgagaatcaaca	13	16	7	5	0	2	3	1	3	1	1	2	5	2	4	0	1	3	1	0	1	6	7			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr9:26905576T>A	ENST00000397292.3	-	14	2738	c.2321A>T	c.(2320-2322)aAg>aTg	p.K774M		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	774	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TGAGGAATACTTTTTTATTTG	0.368													24	98					0	0	0	0	A	26905576	T	A	26905576	3	1	91	1	0	0	0	0	1	0	0	0	12083	1609	56	5	70	5	PLAA	9	26905576	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	3200622	26905576	114307855	90	17686											
SECISBP2	79048	broad.mit.edu	37	chr9	91963071	91963071	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttttaccagtgatgaCacacaagatggagagagtgg	13	8	12	8	0	0	4	0	2	0	2	0	6	0	5	2	2	2	1	2	2	2	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr9:91963071C>T	ENST00000375807.3	+	12	1751	c.1680C>T	c.(1678-1680)gaC>gaT	p.D560D	SECISBP2_ENST00000534113.2_Silent_p.D492D|SECISBP2_ENST00000339901.4_Silent_p.D487D	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	560					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCAGTGATGACACACAAGATG	0.403													16	68					0	0	0	0	T	91963071	C	T	91963071	2	4	91	1	0	0	0	0	0	0	0	1	14093	477	17	4		4	SECISBP2	9	91963071	Silent	SNP	C	TCGA-CN-6010-01A-11D-1683-08	65057495	91963071	49250360	91	17687											
UPF2	26019	broad.mit.edu	37	chr10	12001252	12001253	+	Frame_Shift_Ins	INS	-	-	T																															aggacgtttctttttcacggINSttttttcagctggaggtggg																										TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr10:12001252_12001253insT	ENST00000356352.2	-	11	2760_2761	c.2287_2288insA	c.(2287-2289)cgtfs	p.R763fs	UPF2_ENST00000357604.5_Frame_Shift_Ins_p.R763fs|UPF2_ENST00000397053.2_Frame_Shift_Ins_p.R763fs			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	763	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTTTTTCACGGTTTTTTCAGCT	0.416													17	115	---	---	---	---					T	12001253	-	T	12001252	7	5	91	1	0	1	1	0	0	0	0	0	17100	1261	44	0	1574	0	UPF2	10	12001252	Frame_Shift_Ins	INS	-	TCGA-CN-6010-01A-11D-1683-08		12001252	123533495	92	17688											
CUBN	8029	broad.mit.edu	37	chr10	16870832	16870832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatggtccagaggatggaGagctggcgttgggcccatca	9	8	16	8	1	1	2	1	0	0	2	2	4	2	3	2	5	1	3	2	5	1	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr10:16870832G>A	ENST00000377833.4	-	66	10801	c.10736C>T	c.(10735-10737)tCt>tTt	p.S3579F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3579	CUB 27.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGAGGATGGAGAGCTGGCGTT	0.433											OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	37					0	0	0	0	A	16870832	G	A	16870832	3	1	91	1	0	0	0	0	1	0	0	0	4083	942	33	2	143	2	CUBN	10	16870832	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	4869580	16870832	118663915	93	17689											
FRMPD2	143162	broad.mit.edu	37	chr10	49409355	49409355	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccagtaagtatttacTggtcttggctgaatctgtga	9	14	12	6	0	2	2	0	2	2	0	3	3	3	2	1	3	1	3	1	3	4	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr10:49409355T>A	ENST00000374201.3	-	15	2172	c.1870A>T	c.(1870-1872)Agt>Tgt	p.S624C	FRMPD2_ENST00000407470.4_Missense_Mutation_p.S592C|FRMPD2_ENST00000305531.3_Missense_Mutation_p.S599C	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	624	FERM.			S -> G (in Ref. 3; CAH18097).	tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AAGTATTTACTGGTCTTGGCT	0.448													9	73					0	0	0	0	A	49409355	T	A	49409355	3	1	91	1	0	0	0	0	1	0	0	0	6106	1580	55	5	2119	5	FRMPD2	10	49409355	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	32538523	49409355	86125392	94	17690											
SORCS1	114815	broad.mit.edu	37	chr10	108469071	108469071	+	Missense_Mutation	SNP	C	C	A																															ctgttggcctctgtacagttCtgcattcggcaagttagata																										TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr10:108469071C>A	ENST00000263054.6	-	7	1060	c.1053G>T	c.(1051-1053)caG>caT	p.Q351H	SORCS1_ENST00000344440.6_Missense_Mutation_p.Q351H	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	351						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGTACAGTTCTGCATTCGGC	0.403													16	56					2.4624e-09	7.03982e-08	1	0	A	108469071	C	A	108469071	3	1	91	1	0	0	0	0	1	0	0	0	15018	912	32	2	2767	2	SORCS1	10	108469071	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	59059716	108469071	27065676	95	17691	146	2									
SORCS1	114815	broad.mit.edu	37	chr10	108469072	108469072	+	Missense_Mutation	SNP	T	T	G																															tgttggcctctgtacagttcTgcattcggcaagttagataa																										TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr10:108469072T>G	ENST00000263054.6	-	7	1059	c.1052A>C	c.(1051-1053)cAg>cCg	p.Q351P	SORCS1_ENST00000344440.6_Missense_Mutation_p.Q351P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	351						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTACAGTTCTGCATTCGGCA	0.408													15	56					0	0	0	0	G	108469072	T	G	108469072	3	3	91	1	0	0	0	0	1	0	0	0	15018	1580	55	5	2768	5	SORCS1	10	108469072	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	1	108469072	27065675	96	17692	146	2									
TIAL1	7073	broad.mit.edu	37	chr10	121336173	121336173	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgtatactccataaggCggtacttgccacccatttgc	8	11	8	14	2	0	0	0	0	0	0	1	0	1	0	4	2	5	2	4	2	4	6			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr10:121336173C>T	ENST00000369092.4	-	12	1890	c.582G>A	c.(580-582)ccG>ccA	p.P194P	TIAL1_ENST00000463089.2_5'UTR|TIAL1_ENST00000436547.2_Silent_p.P317P|TIAL1_ENST00000369093.2_Silent_p.P334P			Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	317					apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CTCCATAAGGCGGTACTTGCC	0.428													26	103					0	0	0	0	T	121336173	C	T	121336173	2	4	91	1	0	0	0	0	0	0	0	1	15983	755	27	1		1	TIAL1	10	121336173	Silent	SNP	C	TCGA-CN-6010-01A-11D-1683-08	12867101	121336173	14198574	97	17693											
NUP98	4928	broad.mit.edu	37	chr11	3726504	3726504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatttcttgagaagtatctGctttggaaggcaggcgactg	10	12	13	6	1	2	2	0	1	2	2	2	5	2	3	0	3	1	3	0	3	3	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:3726504G>A	ENST00000324932.7	-	22	3428	c.3008C>T	c.(3007-3009)gCa>gTa	p.A1003V	NUP98_ENST00000359171.4_Missense_Mutation_p.A1003V|NUP98_ENST00000355260.3_Missense_Mutation_p.A1003V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1020					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGAAGTATCTGCTTTGGAAGG	0.413			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								26	62					0	0	0	0	A	3726504	G	A	3726504	3	1	91	1	0	0	0	0	1	0	0	0	10844	1319	46	4	2442	4	NUP98	11	3726504	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08		3726504	131280012	98	17694											
ANO5	203859	broad.mit.edu	37	chr11	22279232	22279232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttcaatattacaggagatgGaaccttacatgcctctatac	13	12	6	10	0	2	1	1	0	1	1	2	3	2	2	2	2	5	0	2	2	7	6			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:22279232G>A	ENST00000324559.8	+	14	1656	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	447						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.E447K(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAGGAGATGGAACCTTACAT	0.378													26	39					0	0	0	0	A	22279232	G	A	22279232	3	1	91	1	0	0	0	0	1	0	0	0	699	1175	41	2	1393	2	ANO5	11	22279232	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	18552728	22279232	112727284	99	17695											
OR5B12	390191	broad.mit.edu	37	chr11	58206944	58206944	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggcgtccttcaggtgaGcgcatcttcatgatggtgat	6	14	12	9	2	4	3	2	3	2	0	5	3	5	3	1	3	1	1	1	3	0	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:58206944G>C	ENST00000302572.2	-	1	702	c.681C>G	c.(679-681)cgC>cgG	p.R227R		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTTCAGGTGAGCGCATCTTCA	0.398													3	45					0	0	0	0	C	58206944	G	C	58206944	2	2	91	1	0	0	0	0	0	0	0	1	11219	958	34	4		4	OR5B12	11	58206944	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	35927712	58206944	76799572	100	17696											
OR4D11	219986	broad.mit.edu	37	chr11	59271552	59271552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgctgcctctccctttCtgtggacccaatgttcttga	4	16	8	13	0	3	1	0	1	3	0	4	2	3	2	3	1	2	3	3	1	1	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:59271552C>A	ENST00000313253.1	+	1	504	c.504C>A	c.(502-504)ttC>ttA	p.F168L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTCTCCCTTTCTGTGGACCCA	0.512													19	80					1.40151e-16	4.10454e-15	1	0	A	59271552	C	A	59271552	3	1	91	1	0	0	0	0	1	0	0	0	11126	912	32	2	506	2	OR4D11	11	59271552	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	1064608	59271552	75734964	101	17697											
AHNAK	79026	broad.mit.edu	37	chr11	62287710	62287710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtcctttcaggtttaagtCaatatcaggcatggagatct	10	13	11	7	0	4	1	3	0	1	1	5	2	5	1	1	4	0	2	1	4	3	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:62287710C>T	ENST00000378024.4	-	5	14453	c.14179G>A	c.(14179-14181)Gac>Aac	p.D4727N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4727					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTTTAAGTCAATATCAGGC	0.498													12	117					0	0	0	0	T	62287710	C	T	62287710	3	4	91	1	0	0	0	0	1	0	0	0	414	826	29	2	3613	2	AHNAK	11	62287710	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	3016158	62287710	72718806	102	17698											
AHNAK	79026	broad.mit.edu	37	chr11	62297926	62297926	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcaggcatggagatcttGggggccttgaagtgcatctc	9	10	13	9	0	3	2	1	1	2	1	4	3	3	2	1	4	1	2	1	4	1	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:62297926G>T	ENST00000378024.4	-	5	4237	c.3963C>A	c.(3961-3963)ccC>ccA	p.P1321P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1321					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGAGATCTTGGGGGCCTTGA	0.517													33	80					1.03484e-13	3.01231e-12	1	0	T	62297926	G	T	62297926	2	4	91	1	0	0	0	0	0	0	0	1	414	1335	47	4		4	AHNAK	11	62297926	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	10216	62297926	72708590	103	17699											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810581	65810581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagcgagaaaacctcctcCacctggcggatgaggcccgc	10	4	12	15	4	0	2	0	1	0	1	2	5	2	3	5	3	2	0	5	3	2	0			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:65810581C>T	ENST00000312006.4	-	3	974	c.693G>A	c.(691-693)gtG>gtA	p.V231V	GAL3ST3_ENST00000527878.1_Silent_p.V231V	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	231					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AAACCTCCTCCACCTGGCGGA	0.662													6	27					0	0	0	0	T	65810581	C	T	65810581	2	4	91	1	0	0	0	0	0	0	0	1	6248	581	21	4		4	GAL3ST3	11	65810581	Silent	SNP	C	TCGA-CN-6010-01A-11D-1683-08	3512655	65810581	69195935	104	17700											
DHCR7	1717	broad.mit.edu	37	chr11	71146483	71146483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcgctcccagtcccggcCgtacttgctggcgcagcggt	4	8	14	15	5	0	0	0	0	0	0	2	0	2	0	3	3	4	5	3	3	2	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:71146483C>T	ENST00000355527.3	-	9	1642	c.1366G>A	c.(1366-1368)Ggc>Agc	p.G456S	DHCR7_ENST00000407721.2_Missense_Mutation_p.G456S	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	456					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CAGTCCCGGCCGTACTTGCTG	0.657									Smith-Lemli-Opitz syndrome				10	29					0	0	0	0	T	71146483	C	T	71146483	3	4	91	1	0	0	0	0	1	0	0	0	4514	652	23	1	65	1	DHCR7	11	71146483	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	5335902	71146483	63860033	105	17701											
SLC35F2	54733	broad.mit.edu	37	chr11	107682478	107682478	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagtcccagcaggatgtacTtccaccattttcttttcaag	9	14	6	12	0	2	0	1	0	1	0	4	1	4	1	3	1	2	2	3	1	3	7			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:107682478T>A	ENST00000525071.1	-	6	917	c.329A>T	c.(328-330)aAg>aTg	p.K110M	SLC35F2_ENST00000375682.4_Missense_Mutation_p.K63M|SLC35F2_ENST00000265836.7_De_novo_Start_InFrame|SLC35F2_ENST00000429869.1_Missense_Mutation_p.K110M|SLC35F2_ENST00000525815.1_Missense_Mutation_p.K110M			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	110					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CAGGATGTACTTCCACCATTT	0.418													33	122					0	0	0	0	A	107682478	T	A	107682478	3	1	91	1	0	0	0	0	1	0	0	0	14677	1609	56	5	819	5	SLC35F2	11	107682478	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	36535995	107682478	27324038	106	17702											
APLP2	334	broad.mit.edu	37	chr11	129996669	129996669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgataatgagcatgctCgcttccagaaggctaaggag	13	8	12	8	1	0	4	0	2	0	2	2	5	1	5	1	2	2	4	1	2	3	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:129996669C>A	ENST00000263574.5	+	8	1237	c.1165C>A	c.(1165-1167)Cgc>Agc	p.R389S	APLP2_ENST00000528499.1_Missense_Mutation_p.R333S|APLP2_ENST00000543137.1_Missense_Mutation_p.R296S|APLP2_ENST00000345598.5_Missense_Mutation_p.R160S|APLP2_ENST00000278756.7_Missense_Mutation_p.R399S|APLP2_ENST00000539648.1_Missense_Mutation_p.R177S|APLP2_ENST00000338167.5_Missense_Mutation_p.R389S	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	389					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGAGCATGCTCGCTTCCAGAA	0.468													7	104					0.000157383	0.00379855	1	0	A	129996669	C	A	129996669	3	1	91	1	0	0	0	0	1	0	0	0	781	884	31	3	1195	3	APLP2	11	129996669	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	22314191	129996669	5009847	107	17703											
SNX19	399979	broad.mit.edu	37	chr11	130785040	130785040	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccttggaaaagataccCacgagtacaaggtggatcca	13	7	11	10	1	0	1	0	0	0	1	1	4	1	3	3	4	2	1	3	4	5	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:130785040C>G	ENST00000265909.4	-	1	1364	c.795G>C	c.(793-795)gtG>gtC	p.V265V	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Silent_p.V265V|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	265	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AAAAGATACCCACGAGTACAA	0.552													4	65					0	0	0	0	G	130785040	C	G	130785040	2	3	91	1	0	0	0	0	0	0	0	1	14978	581	21	4		4	SNX19	11	130785040	Silent	SNP	C	TCGA-CN-6010-01A-11D-1683-08	788371	130785040	4221476	108	17704											
GALNT8	26290	broad.mit.edu	37	chr12	4835909	4835909	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcagaaggcggcccaGgacctcttccggaagtttgg	8	6	14	13	2	1	1	0	0	1	1	2	3	2	3	4	5	1	2	4	5	2	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:4835909G>C	ENST00000252318.2	+	2	760	c.423G>C	c.(421-423)caG>caC	p.Q141H	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	141						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AGGCGGCCCAGGACCTCTTCC	0.547													4	21					0	0	0	0	C	4835909	G	C	4835909	3	2	91	1	0	0	0	0	1	0	0	0	6268	991	35	4	429	4	GALNT8	12	4835909	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08		4835909	129015986	109	17705											
LTBR	4055	broad.mit.edu	37	chr12	6495602	6495602	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagagccactgcccccagAgatgtcaggtgagggaccag	11	6	13	11	0	1	3	1	1	0	2	1	5	1	4	4	2	2	0	4	2	1	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:6495602A>G	ENST00000228918.4	+	6	985	c.659A>G	c.(658-660)gAg>gGg	p.E220G	LTBR_ENST00000539925.1_Missense_Mutation_p.E201G|LTBR_ENST00000541102.1_Missense_Mutation_p.E113G|LTBR_ENST00000543190.1_3'UTR	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	220					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CTGCCCCCAGAGATGTCAGGT	0.547													6	7					0	0	0	0	G	6495602	A	G	6495602	3	3	91	1	0	0	0	0	1	0	0	0	9141	304	11	5	681	5	LTBR	12	6495602	Missense_Mutation	SNP	A	TCGA-CN-6010-01A-11D-1683-08	1659693	6495602	127356293	110	17706											
PRH1	5554	broad.mit.edu	37	chr12	11035684	11035684	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tattacgaggggaacatcttCctggctgacatctagaaaag	13	10	10	8	1	2	2	0	1	2	1	3	4	3	3	1	3	2	1	1	3	6	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:11035684C>A	ENST00000428168.2	-	2	113	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	26	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		GGAACATCTTCCTGGCTGACA	0.398													15	54					2.94398e-08	8.2209e-07	1	0	A	11035684	C	A	11035684	4	1	91	1	0	0	0	0	0	1	0	0	12562	864	30	2	436	2	PRH1	12	11035684	Nonsense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	4540082	11035684	122816211	111	17707											
PRB3	5544	broad.mit.edu	37	chr12	11420146	11420146	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttactggggaggctgtccctGgggaggtctgtgtggtctgc	3	12	18	8	0	2	0	0	0	2	0	3	2	3	2	1	7	2	1	1	7	1	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:11420146G>C	ENST00000381842.3	-	0	947				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGCTGTCCCTGGGGAGGTCTG	0.552													14	30					0	0	0	0	C	11420146	G	C	11420146	1	2	91	0	1	0	0	0	0	0	0	0	12524	1357	47	4		4	PRB3	12	11420146	RNA	SNP	G	TCGA-CN-6010-01A-11D-1683-08	384462	11420146	122431749	112	17708											
ALG10	84920	broad.mit.edu	37	chr12	34175620	34175620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcttctccgccttcagccGggcgttgcgagagccctaca	5	9	10	17	4	3	1	1	0	2	1	4	2	3	1	5	1	4	1	5	1	1	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:34175620G>T	ENST00000266483.2	+	1	405	c.86G>T	c.(85-87)cGg>cTg	p.R29L	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Missense_Mutation_p.R29L	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	29					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCCTTCAGCCGGGCGTTGCGA	0.597													12	122					0.000151284	0.00370724	1	0	T	34175620	G	T	34175620	3	4	91	1	0	0	0	0	1	0	0	0	511	1116	39	3	88	3	ALG10	12	34175620	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	22755474	34175620	99676275	113	17709											
PDZRN4	29951	broad.mit.edu	37	chr12	41966845	41966845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccgctcactgtagaccgttCccctgacagttcccttccaa	7	11	6	17	2	1	2	1	1	0	1	5	2	5	2	6	0	0	4	6	0	2	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:41966845C>A	ENST00000298919.7	+	10	1872	c.1484C>A	c.(1483-1485)tCc>tAc	p.S495Y	PDZRN4_ENST00000539469.2_Missense_Mutation_p.S497Y|PDZRN4_ENST00000402685.2_Missense_Mutation_p.S755Y			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	755							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTAGACCGTTCCCCTGACAGT	0.498													8	35					1.12685e-05	0.000286363	1	0	A	41966845	C	A	41966845	3	1	91	1	0	0	0	0	1	0	0	0	11781	855	30	2	2375	2	PDZRN4	12	41966845	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	7791225	41966845	91885050	114	17710											
COPZ1	22818	broad.mit.edu	37	chr12	54744287	54744287	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagccaaagaacagatcAagtggtcactccttcggtga	13	8	10	10	1	3	3	3	1	0	2	5	3	4	3	2	2	2	0	2	2	3	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:54744287A>G	ENST00000262061.2	+	9	551	c.514A>G	c.(514-516)Aag>Gag	p.K172E	COPZ1_ENST00000549116.1_Missense_Mutation_p.K114E|COPZ1_ENST00000548753.1_Missense_Mutation_p.K84E|COPZ1_ENST00000455864.2_Missense_Mutation_p.K149E|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000416254.2_Missense_Mutation_p.K121E|COPZ1_ENST00000549043.1_Missense_Mutation_p.K180E|COPZ1_ENST00000552362.1_Missense_Mutation_p.K155E|COPZ1_ENST00000552218.1_Missense_Mutation_p.K193E|COPZ1_ENST00000551779.1_3'UTR	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	172					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						AGAACAGATCAAGTGGTCACT	0.493													8	112					0	0	0	0	G	54744287	A	G	54744287	3	3	91	1	0	0	0	0	1	0	0	0	3771	131	5	5	548	5	COPZ1	12	54744287	Missense_Mutation	SNP	A	TCGA-CN-6010-01A-11D-1683-08	12777442	54744287	79107608	115	17711											
MON2	23041	broad.mit.edu	37	chr12	62938684	62938684	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatataccttcaggtctgcCagcatccaaactctcgaatg	11	12	6	12	1	3	0	1	0	2	0	5	1	4	0	3	1	4	1	3	1	5	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:62938684C>T	ENST00000393630.3	+	22	2867	c.2476C>T	c.(2476-2478)Cag>Tag	p.Q826*	MON2_ENST00000393632.2_Nonsense_Mutation_p.Q825*|MON2_ENST00000546600.1_Nonsense_Mutation_p.Q825*|MON2_ENST00000393629.2_Nonsense_Mutation_p.Q825*|MON2_ENST00000552115.1_Nonsense_Mutation_p.Q825*|MON2_ENST00000552738.1_Nonsense_Mutation_p.Q802*|MON2_ENST00000280379.6_Nonsense_Mutation_p.Q826*	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	826					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TCAGGTCTGCCAGCATCCAAA	0.333													12	40					0	0	0	0	T	62938684	C	T	62938684	4	4	91	1	0	0	0	0	0	1	0	0	9770	595	21	4	2555	4	MON2	12	62938684	Nonsense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	8194397	62938684	70913211	116	17712											
GRIP1	23426	broad.mit.edu	37	chr12	66770984	66770984	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagaattcctgactgtccGcaggtttccaaatcctccag	9	11	7	14	1	1	2	1	1	0	1	6	2	6	2	5	1	0	2	5	1	2	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:66770984G>A	ENST00000359742.4	-	21	2943	c.2703C>T	c.(2701-2703)tgC>tgT	p.C901C	GRIP1_ENST00000286445.7_Silent_p.C901C|GRIP1_ENST00000398016.3_Silent_p.C849C			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	901					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTGACTGTCCGCAGGTTTCCA	0.443													37	166					0	0	0	0	A	66770984	G	A	66770984	2	1	91	1	0	0	0	0	0	0	0	1	6837	1079	38	1		1	GRIP1	12	66770984	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	3832300	66770984	67080911	117	17713											
CRY1	1407	broad.mit.edu	37	chr12	107395137	107395137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagaggataagccatctGtatcaaaacctacaagaaag	17	7	8	9	0	2	2	1	0	1	2	2	3	2	3	2	1	4	2	2	1	7	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:107395137G>T	ENST00000008527.5	-	5	1472	c.605C>A	c.(604-606)aCa>aAa	p.T202K		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	202					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TAAGCCATCTGTATCAAAACC	0.343													5	73					0.000274275	0.0065215	1	0	T	107395137	G	T	107395137	3	4	91	1	0	0	0	0	1	0	0	0	3933	1377	48	4	1187	4	CRY1	12	107395137	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	40624153	107395137	26456758	118	17714											
BRCA2	675	broad.mit.edu	37	chr13	32971100	32971100	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atactgcatgcaaatgatccCaagtggtccaccccaactaa	14	8	6	13	0	0	1	0	1	0	0	2	1	2	1	4	1	4	2	4	1	5	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr13:32971100C>A	ENST00000544455.1	+	26	9794	c.9567C>A	c.(9565-9567)ccC>ccA	p.P3189P	BRCA2_ENST00000380152.3_Silent_p.P3189P	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3189					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAAATGATCCCAAGTGGTCCA	0.378			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			10	192					0.00010058	0.00249013	1	0	A	32971100	C	A	32971100	2	1	91	1	0	0	0	0	0	0	0	1	1507	581	21	4		4	BRCA2	13	32971100	Silent	SNP	C	TCGA-CN-6010-01A-11D-1683-08		32971100	82198778	119	17715											
POSTN	10631	broad.mit.edu	37	chr13	38138655	38138655	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tactatagccaatacacttaCcttgaacttttttgttggct	10	17	5	9	0	0	1	0	1	0	0	0	1	0	1	2	1	5	2	2	1	7	10			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr13:38138655C>T	ENST00000379747.4	-	22	2591		c.e22+1		POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AATACACTTACCTTGAACTTT	0.323													28	96					0	0	0	0	T	38138655	C	T	38138655	5	4	91	1	0	0	0	0	0	0	1	0	12331	521	18	4	44	4	POSTN	13	38138655	Splice_Site	SNP	C	TCGA-CN-6010-01A-11D-1683-08	5167555	38138655	77031223	120	17716											
CHD8	57680	broad.mit.edu	37	chr14	21874023	21874023	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgagtagcaccttgtgttCctagaaatggaggaaacaaa	14	10	11	6	0	0	2	0	1	0	1	1	4	1	4	2	2	2	3	2	2	5	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:21874023C>A	ENST00000399982.2	-	14	2972	c.2907_splice	c.e14-1	p.E970_splice	CHD8_ENST00000430710.3_Splice_Site_p.E691_splice|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Splice_Site_p.E970_splice	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	970	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACCTTGTGTTCCTAGAAATGG	0.338													18	32					9.16793e-09	2.60554e-07	1	0	A	21874023	C	A	21874023	5	1	91	1	0	0	0	0	0	0	1	0	3360	869	30	2	4933	2	CHD8	14	21874023	Splice_Site	SNP	C	TCGA-CN-6010-01A-11D-1683-08		21874023	85475517	121	17717											
DHRS4L1	728635	broad.mit.edu	37	chr14	24511906	24511906	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctccctaggctatgaagCttcatggagttattgatatc	9	14	8	10	0	2	2	1	2	1	0	4	3	2	3	2	2	1	3	2	2	5	6			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:24511906C>T	ENST00000558293.1	+	0	437					NR_102693.1				dehydrogenase/reductase (SDR family) member 4 like 1																		GGCTATGAAGCTTCATGGAGT	0.448													18	98					0	0	0	0	T	24511906	C	T	24511906	1	4	91	0	1	0	0	0	0	0	0	0	4530	797	28	4		4	DHRS4L1	14	24511906	RNA	SNP	C	TCGA-CN-6010-01A-11D-1683-08	2637883	24511906	82837634	122	17718											
DDHD1	80821	broad.mit.edu	37	chr14	53527915	53527915	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccgttcttctatttcctTcagcctaagaaggggtatga	10	13	9	9	1	3	2	1	1	2	1	4	2	4	2	3	2	2	2	3	2	5	7			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:53527915T>C	ENST00000357758.3	-	8	1954	c.1771A>G	c.(1771-1773)Aag>Gag	p.K591E	DDHD1_ENST00000395606.1_Missense_Mutation_p.K598E|DDHD1_ENST00000323669.5_Missense_Mutation_p.K591E	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	591					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCTATTTCCTTCAGCCTAAGA	0.348													15	79					0	0	0	0	C	53527915	T	C	53527915	3	2	91	1	0	0	0	0	1	0	0	0	4358	1792	62	5	955	5	DDHD1	14	53527915	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	29016009	53527915	53821625	123	17719											
SYNE2	23224	broad.mit.edu	37	chr14	64443439	64443439	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacaagagaaaatgactttAttcaaggttggaaaagaaaa	21	9	8	3	0	1	3	1	1	0	2	1	5	1	4	0	2	1	1	0	2	10	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:64443439A>T	ENST00000358025.3	+	12	1517	c.1287A>T	c.(1285-1287)ttA>ttT	p.L429F	SYNE2_ENST00000344113.4_Missense_Mutation_p.L429F|SYNE2_ENST00000554584.1_Missense_Mutation_p.L429F|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	429					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATGACTTTATTCAAGGTTG	0.383													14	142					0	0	0	0	T	64443439	A	T	64443439	3	4	91	1	0	0	0	0	1	0	0	0	15537	446	16	5	1329	5	SYNE2	14	64443439	Missense_Mutation	SNP	A	TCGA-CN-6010-01A-11D-1683-08	10915524	64443439	42906101	124	17720											
GSC	145258	broad.mit.edu	37	chr14	95234883	95234883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctcttctccggtgacGccttcgacgacgacgtcttg	4	12	9	16	6	3	1	0	1	3	0	6	4	4	1	3	1	0	0	3	1	0	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:95234883G>A	ENST00000238558.3	-	3	928	c.719C>T	c.(718-720)gCg>gTg	p.A240V		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	240					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		CTCCGGTGACGCCTTCGACGA	0.572													13	105					0	0	0	0	A	95234883	G	A	95234883	3	1	91	1	0	0	0	0	1	0	0	0	6864	1087	38	1	58	1	GSC	14	95234883	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	30791444	95234883	12114657	125	17721											
ATG2B	55102	broad.mit.edu	37	chr14	96772063	96772063	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggggctttgctcgtatcGgtcttattaacgggcagact	8	12	13	8	3	1	1	0	0	1	1	3	1	1	1	0	4	2	4	0	4	4	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:96772063G>C	ENST00000359933.4	-	31	5489	c.4596C>G	c.(4594-4596)acC>acG	p.T1532T	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1532										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGCTCGTATCGGTCTTATTAA	0.403													3	48					0	0	0	0	C	96772063	G	C	96772063	2	2	91	1	0	0	0	0	0	0	0	1	1098	1103	39	3		3	ATG2B	14	96772063	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	1537180	96772063	10577477	126	17722											
AK7	122481	broad.mit.edu	37	chr14	96864496	96864496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaaaataagtcagctatgCtggaagcttcctcaaccaaa	16	9	7	9	0	2	1	2	1	0	0	3	2	3	2	2	1	4	3	2	1	7	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:96864496C>A	ENST00000267584.4	+	2	234	c.190C>A	c.(190-192)Ctg>Atg	p.L64M	AK7_ENST00000555570.1_Missense_Mutation_p.L64M	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	64					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GTCAGCTATGCTGGAAGCTTC	0.488													13	72					1.3612e-06	3.59223e-05	1	0	A	96864496	C	A	96864496	3	1	91	1	0	0	0	0	1	0	0	0	444	796	28	4	196	4	AK7	14	96864496	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	92433	96864496	10485044	127	17723											
MTA1	9112	broad.mit.edu	37	chr14	105930441	105930441	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacggcacgggggcgccGggccagagccctggggctgg	5	3	21	12	4	0	2	0	1	0	1	0	2	0	2	3	7	2	2	3	7	1	0			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:105930441G>T	ENST00000331320.7	+	13	1363	c.1149G>T	c.(1147-1149)ccG>ccT	p.P383P	MTA1_ENST00000405646.1_Silent_p.P366P|MTA1_ENST00000406191.1_Silent_p.P383P|MTA1_ENST00000435036.2_5'UTR	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	383					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CGGGGGCGCCGGGCCAGAGCC	0.652													15	40					5.01169e-05	0.00126027	1	0	T	105930441	G	T	105930441	2	4	91	1	0	0	0	0	0	0	0	1	9978	1103	39	3		3	MTA1	14	105930441	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	9065945	105930441	1419099	128	17724											
TGM7	116179	broad.mit.edu	37	chr15	43585695	43585695	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctgggactggaagggtcGgctgaagctcagccggaggt	7	8	18	8	2	2	1	1	1	1	0	3	4	2	4	1	6	2	3	1	6	2	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr15:43585695G>T	ENST00000452443.2	-	2	149	c.145C>A	c.(145-147)Cga>Aga	p.R49R		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	49					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TGGAAGGGTCGGCTGAAGCTC	0.617													27	56					1.38267e-23	4.1506e-22	1	0	T	43585695	G	T	43585695	2	4	91	1	0	0	0	0	0	0	0	1	15929	1124	39	3		3	TGM7	15	43585695	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08		43585695	58945697	129	17725											
EFTUD1	79631	broad.mit.edu	37	chr15	82512439	82512439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggctcctctccttttGgacatgtttcaatggcactc	5	16	7	13	0	3	0	1	0	2	0	6	1	4	1	2	3	0	3	2	3	1	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr15:82512439G>T	ENST00000268206.7	-	13	1592	c.1424C>A	c.(1423-1425)cCa>cAa	p.P475Q	EFTUD1_ENST00000359445.3_Missense_Mutation_p.P424Q	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	475					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTCTCCTTTTGGACATGTTTC	0.493													11	121					6.31663e-08	1.74361e-06	1	0	T	82512439	G	T	82512439	3	4	91	1	0	0	0	0	1	0	0	0	4996	1348	47	4	1970	4	EFTUD1	15	82512439	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	38926744	82512439	20018953	130	17726											
ANPEP	290	broad.mit.edu	37	chr15	90347556	90347556	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggaggaggacagggggtcGaacagcagggagttctcccg	9	5	18	9	2	1	0	0	0	1	0	3	5	1	4	1	6	2	2	1	6	1	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr15:90347556G>A	ENST00000300060.6	-	6	1420	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	369	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	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)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	ACAGGGGGTCGAACAGCAGGG	0.632													7	28					0	0	0	0	A	90347556	G	A	90347556	2	1	91	1	0	0	0	0	0	0	0	1	709	1049	37	1		1	ANPEP	15	90347556	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	7835117	90347556	12183836	131	17727											
RRN3	54700	broad.mit.edu	37	chr16	15157137	15157137	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggatcaatgaatttcttTgacctgtcaacaaagatcac	15	12	6	8	0	4	3	3	2	1	1	4	4	4	4	1	1	1	0	1	1	5	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr16:15157137T>G	ENST00000198767.6	-	17	1793	c.1710A>C	c.(1708-1710)tcA>tcC	p.S570S	RRN3_ENST00000327307.7_Silent_p.S537S|RRN3_ENST00000563559.1_Silent_p.S570S|RRN3_ENST00000540462.1_Silent_p.S388S|RRN3_ENST00000429751.2_Silent_p.S540S|PDXDC1_ENST00000535621.2_Intron	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	570	Interaction with EIF3L.|Interaction with TWISTNB.				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						TGAATTTCTTTGACCTGTCAA	0.373													18	96					0	0	0	0	G	15157137	T	G	15157137	2	3	91	1	0	0	0	0	0	0	0	1	13769	1799	63	5		5	RRN3	16	15157137	Silent	SNP	T	TCGA-CN-6010-01A-11D-1683-08		15157137	75197616	132	17728											
CDR2	1039	broad.mit.edu	37	chr16	22360714	22360714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcagctcctccacttggCtctggaggtgatcaatgttg	7	13	10	11	0	3	1	2	1	1	0	5	2	5	2	2	3	1	3	2	3	1	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr16:22360714C>T	ENST00000268383.2	-	4	699	c.392G>A	c.(391-393)aGc>aAc	p.S131N		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	131						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		CTCCACTTGGCTCTGGAGGTG	0.527													27	60					0	0	0	0	T	22360714	C	T	22360714	3	4	91	1	0	0	0	0	1	0	0	0	3201	797	28	4	980	4	CDR2	16	22360714	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	7203577	22360714	67994039	133	17729											
SALL1	6299	broad.mit.edu	37	chr16	51173271	51173271	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaaaccattggcaaactcGcttgggaccgctctctgtgg	9	9	11	12	2	1	0	0	0	1	0	3	2	1	1	2	3	2	3	2	3	2	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr16:51173271G>A	ENST00000440970.1	-	2	3002	c.2571C>T	c.(2569-2571)agC>agT	p.S857S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.S954S|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	954					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S954S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGCAAACTCGCTTGGGACCG	0.517													13	22					0	0	0	0	A	51173271	G	A	51173271	2	1	91	1	0	0	0	0	0	0	0	1	13895	1078	38	1		1	SALL1	16	51173271	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	28812557	51173271	39181482	134	17730											
CDH11	1009	broad.mit.edu	37	chr16	65005485	65005485	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccttagtacaaacctcGgttgtctctgactgtgaaat	11	12	9	9	1	1	2	0	2	1	0	3	3	1	3	2	2	3	2	2	2	5	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr16:65005485G>A	ENST00000394156.3	-	11	2092	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	CDH11_ENST00000566827.1_Nonsense_Mutation_p.R421*|CDH11_ENST00000268603.4_Nonsense_Mutation_p.R547*			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	547	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R547G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TACAAACCTCGGTTGTCTCTG	0.398			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			10	50					0	0	0	0	A	65005485	G	A	65005485	4	1	91	1	0	0	0	0	0	1	0	0	3126	1124	39	1	763	1	CDH11	16	65005485	Nonsense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	13832214	65005485	25349268	135	17731											
DDX19B	11269	broad.mit.edu	37	chr16	70333201	70333201	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacccgcgcctgggaccAtggccactgactcatgggcc	6	6	11	18	2	1	1	1	1	0	0	2	2	2	2	6	3	0	0	6	3	0	0			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr16:70333201A>G	ENST00000288071.6	+	1	246	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	DDX19B_ENST00000451014.3_Intron|DDX19B_ENST00000563392.1_Intron|DDX19B_ENST00000355992.3_Start_Codon_SNP_p.M1V|DDX19B_ENST00000568625.1_Intron|DDX19B_ENST00000570055.1_Intron|DDX19B_ENST00000393657.2_5'UTR|DDX19B_ENST00000563206.1_Intron|RP11-529K1.3_ENST00000567706.1_Start_Codon_SNP_p.M1V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	1					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GCCTGGGACCATGGCCACTGA	0.667													3	4					0	0	0	0	G	70333201	A	G	70333201	1	3	91	1	0	0	0	0	0	0	0	0	4379	217	8	5		5	DDX19B	16	70333201	Translation_Start_Site	SNP	A	TCGA-CN-6010-01A-11D-1683-08	5327716	70333201	20021552	136	17732											
CNTNAP4	85445	broad.mit.edu	37	chr16	76501310	76501310	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggtggatttcagggatgTatgaggctcatttctatcag	8	15	12	6	0	4	1	3	1	1	0	4	3	4	3	0	4	0	2	0	4	2	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr16:76501310T>A	ENST00000307431.8	+	11	1927	c.1542T>A	c.(1540-1542)tgT>tgA	p.C514*	CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.C442*|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.C518*|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.C466*	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	515	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTCAGGGATGTATGAGGCTCA	0.433													11	25					0	0	0	0	A	76501310	T	A	76501310	4	1	91	1	0	0	0	0	0	1	0	0	3679	1644	57	5	1596	5	CNTNAP4	16	76501310	Nonsense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	6168109	76501310	13853443	137	17733											
ASGR2	433	broad.mit.edu	37	chr17	7017444	7017444	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcacacttgcctttcaaaAatggatttcctctcctggga	9	13	7	12	0	2	0	1	0	1	0	4	2	3	2	3	2	2	1	3	2	2	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:7017444A>G	ENST00000380952.2	-	2	380	c.116T>C	c.(115-117)tTt>tCt	p.F39S	ASGR2_ENST00000254850.7_Intron|ASGR2_ENST00000355035.5_Missense_Mutation_p.F39S|ASGR2_ENST00000446679.2_Intron	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	39					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GCCTTTCAAAAATGGATTTCC	0.537													10	46					0	0	0	0	G	7017444	A	G	7017444	3	3	91	1	0	0	0	0	1	0	0	0	1044	14	1	5	851	5	ASGR2	17	7017444	Missense_Mutation	SNP	A	TCGA-CN-6010-01A-11D-1683-08		7017444	74177766	138	17734											
TP53	7157	broad.mit.edu	37	chr17	7579312	7579312	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctcagggcaactgacCgtgcaagtcacagacttggc	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs55863639		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAACTGACCGTGCAAGTCA	0.537		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	25					2.94398e-08	8.2209e-07	1	0	A	7579312	C	A	7579312	5	1	91	1	0	0	0	0	0	0	1	0	16476	666	23	3	927	3	TP53	17	7579312	Splice_Site	SNP	C	TCGA-CN-6010-01A-11D-1683-08	561868	7579312	73615898	139	17735											
COX10	1352	broad.mit.edu	37	chr17	14005488	14005488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggctccgggcccttttGactggccctgtttcctgctt	2	15	10	14	1	0	1	0	1	0	0	2	1	2	1	4	3	1	3	4	3	0	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:14005488G>T	ENST00000261643.3	+	4	630	c.553G>T	c.(553-555)Gac>Tac	p.D185Y	COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_Intron	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	185					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GGGCCCTTTTGACTGGCCCTG	0.498													8	110					1.58986e-06	4.17274e-05	1	0	T	14005488	G	T	14005488	3	4	91	1	0	0	0	0	1	0	0	0	3792	1290	45	2	567	2	COX10	17	14005488	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	6426176	14005488	67189722	140	17736											
RHBDL3	162494	broad.mit.edu	37	chr17	30621436	30621436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacaggtttggcgctacCtgacatacatcttcatgcat	10	11	9	11	1	2	1	1	1	1	0	2	2	2	1	1	2	4	4	1	2	2	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:30621436C>A	ENST00000269051.4	+	5	657	c.643C>A	c.(643-645)Ctg>Atg	p.L215M	RHBDL3_ENST00000538145.1_Missense_Mutation_p.L207M|RHBDL3_ENST00000536287.1_Missense_Mutation_p.L117M	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	215					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TTGGCGCTACCTGACATACAT	0.463													9	36					1.12685e-05	0.000286363	1	0	A	30621436	C	A	30621436	3	1	91	1	0	0	0	0	1	0	0	0	13406	680	24	4	661	4	RHBDL3	17	30621436	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	16615948	30621436	50573774	141	17737											
C17orf66	256957	broad.mit.edu	37	chr17	34185928	34185928	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtccttggcacaggcaCtgcaacaagaactcttggac	11	9	10	11	0	1	2	0	1	1	1	2	3	2	3	1	3	3	3	1	3	3	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:34185928C>T	ENST00000311880.2	-	9	1051	c.903G>A	c.(901-903)caG>caA	p.Q301Q	C17orf66_ENST00000592980.1_Silent_p.Q261Q	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	301							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GGCACAGGCACTGCAACAAGA	0.567													9	55					0	0	0	0	T	34185928	C	T	34185928	2	4	91	1	0	0	0	0	0	0	0	1	1889	564	20	4		4	C17orf66	17	34185928	Silent	SNP	C	TCGA-CN-6010-01A-11D-1683-08	3564492	34185928	47009282	142	17738											
SOCS7	30837	broad.mit.edu	37	chr17	36508743	36508743	+	Frame_Shift_Del	DEL	C	C	-																															ggccactcgcgggtccttctCggaagggctccttcaaaatc																										TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:36508743delC	ENST00000577233.1	+	1	616	c.616delC	c.(616-618)ggfs	p.R206fs	SOCS7_ENST00000331159.5_Frame_Shift_Del_p.R206fs	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	206	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GGGTCCTTCTCGGAAGGGCTC	0.697													2	4	---	---	---	---					-	36508743	C	-	36508743	7	5	91	1	0	1	0	1	0	0	0	0	15007	875	31	0	618	0	SOCS7	17	36508743	Frame_Shift_Del	DEL	C	TCGA-CN-6010-01A-11D-1683-08	2322815	36508743	44686467	143	17739											
HSPB9	94086	broad.mit.edu	37	chr17	40275302	40275302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccaaacaggaccgtcccCgagactcgggagcctcggct	9	4	12	16	4	0	1	0	0	0	1	3	4	1	3	5	3	3	1	5	3	1	0			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:40275302C>T	ENST00000355067.3	+	1	547	c.434C>T	c.(433-435)cCg>cTg	p.P145L	CTD-2132N18.3_ENST00000592574.1_Intron	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	145					response to stress	cytoplasm|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGACCGTCCCCGAGACTCGGG	0.637													9	26					0	0	0	0	T	40275302	C	T	40275302	3	4	91	1	0	0	0	0	1	0	0	0	7477	652	23	1	436	1	HSPB9	17	40275302	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	3766559	40275302	40919908	144	17740											
TUBG1	7283	broad.mit.edu	37	chr17	40766632	40766632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgccctcggcccaccGggtcagcgggctcatgatgg	5	7	13	16	3	2	1	2	1	0	0	3	1	2	1	4	4	3	1	4	4	1	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:40766632G>A	ENST00000251413.3	+	10	1177	c.1115G>A	c.(1114-1116)cGg>cAg	p.R372Q		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	372					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TCGGCCCACCGGGTCAGCGGG	0.592													15	45					0	0	0	0	A	40766632	G	A	40766632	3	1	91	1	0	0	0	0	1	0	0	0	16860	1116	39	1	1153	1	TUBG1	17	40766632	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	491330	40766632	40428578	145	17741											
RNF213	57674	broad.mit.edu	37	chr17	78319551	78319551	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggctgaaaatgtggccttCgccaataaggaccaacatca	14	7	10	10	1	1	1	1	1	0	0	2	3	1	2	3	3	1	1	3	3	5	2	rs143772929		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:78319551C>T	ENST00000582970.1	+	29	7559	c.7416C>T	c.(7414-7416)ttC>ttT	p.F2472F	RNF213_ENST00000336301.6_Silent_p.F545F|RNF213_ENST00000508628.2_Silent_p.F2521F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATGTGGCCTTCGCCAATAAGG	0.463													12	50					0	0	0	0	T	78319551	C	T	78319551	2	4	91	1	0	0	0	0	0	0	0	1	13562	883	31	1		1	RNF213	17	78319551	Silent	SNP	C	TCGA-CN-6010-01A-11D-1683-08	37552919	78319551	2875659	146	17742											
PTPRM	5797	broad.mit.edu	37	chr18	8143677	8143677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaaaccagtcccagaacccGagaaacagacagaccataca	18	2	7	14	2	0	4	0	0	0	4	1	6	1	4	4	0	4	0	4	0	4	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr18:8143677G>A	ENST00000332175.8	+	14	3237	c.2200G>A	c.(2200-2202)Gag>Aag	p.E734K	PTPRM_ENST00000580170.1_Missense_Mutation_p.E734K|PTPRM_ENST00000444013.1_Missense_Mutation_p.E521K|PTPRM_ENST00000400053.4_Missense_Mutation_p.E672K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E734K	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	734					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CCCAGAACCCGAGAAACAGAC	0.423													12	60					0	0	0	0	A	8143677	G	A	8143677	3	1	91	1	0	0	0	0	1	0	0	0	12888	1059	37	1	2254	1	PTPRM	18	8143677	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08		8143677	69933571	147	17743											
MYO5B	4645	broad.mit.edu	37	chr18	47421488	47421488	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagccgctctacctccatGgtgtatgttgaggtggtcac	6	13	11	11	1	3	1	2	1	1	0	4	1	4	1	3	3	2	3	3	3	2	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr18:47421488G>C	ENST00000285039.7	-	22	3167	c.2868C>G	c.(2866-2868)acC>acG	p.T956T	MYO5B_ENST00000324581.6_Silent_p.T97T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	956					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTACCTCCATGGTGTATGTTG	0.552													3	37					0	0	0	0	C	47421488	G	C	47421488	2	2	91	1	0	0	0	0	0	0	0	1	10149	1335	47	4		4	MYO5B	18	47421488	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	39277811	47421488	30655760	148	17744											
SHC2	25759	broad.mit.edu	37	chr19	436383	436383	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccgggggcctcacctcTctggttgatggggtccttgg	2	11	14	14	1	2	1	1	1	1	0	5	1	4	1	5	6	0	1	5	6	0	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:436383T>C	ENST00000264554.6	-	6	822	c.823A>G	c.(823-825)Aga>Gga	p.R275G		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	275	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCCTCACCTCTCTGGTTGATG	0.716													9	16					0	0	0	0	C	436383	T	C	436383	3	2	91	1	0	0	0	0	1	0	0	0	14359	1559	54	5	953	5	SHC2	19	436383	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08		436383	58692600	149	17745											
KEAP1	9817	broad.mit.edu	37	chr19	10610177	10610177	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcattgctggggtccagcTgctgcaccaggaagtcactg	7	9	14	11	0	1	0	1	0	0	0	2	1	2	1	2	4	4	5	2	4	1	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:10610177T>A	ENST00000171111.5	-	2	1080	c.533A>T	c.(532-534)cAg>cTg	p.Q178L	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.Q178L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GGGGTCCAGCTGCTGCACCAG	0.567													6	9					0	0	0	0	A	10610177	T	A	10610177	3	1	91	1	0	0	0	0	1	0	0	0	8193	1580	55	5	1361	5	KEAP1	19	10610177	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	10173794	10610177	48518806	150	17746											
SIN3B	23309	broad.mit.edu	37	chr19	16977273	16977273	+	Frame_Shift_Del	DEL	C	C	-																															tgagaaggcgtacctcaagtCccttgaccaccaggctgtga																										TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:16977273delC	ENST00000379803.1	+	13	1822	c.1808delC	c.(1807-1809)tcfs	p.S603fs	SIN3B_ENST00000595541.1_Frame_Shift_Del_p.S161fs|SIN3B_ENST00000248054.5_Frame_Shift_Del_p.S571fs	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	603					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TACCTCAAGTCCCTTGACCAC	0.587													8	26	---	---	---	---					-	16977273	C	-	16977273	7	5	91	1	0	1	0	1	0	0	0	0	14414	855	30	0	1858	0	SIN3B	19	16977273	Frame_Shift_Del	DEL	C	TCGA-CN-6010-01A-11D-1683-08	6367096	16977273	42151710	151	17747											
PLVAP	83483	broad.mit.edu	37	chr19	17476149	17476149	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggccagctccatcctGagctgctccgcctccctctt	4	11	8	18	1	1	2	0	2	1	0	5	2	5	2	6	1	3	3	6	1	0	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:17476149G>T	ENST00000252590.4	-	3	1186	c.1125C>A	c.(1123-1125)ctC>ctA	p.L375L		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	375						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTCCATCCTGAGCTGCTCCG	0.617													15	40					8.00594e-06	0.000206734	1	0	T	17476149	G	T	17476149	2	4	91	1	0	0	0	0	0	0	0	1	12188	1277	45	2		2	PLVAP	19	17476149	Silent	SNP	G	TCGA-CN-6010-01A-11D-1683-08	498876	17476149	41652834	152	17748											
PSG8	440533	broad.mit.edu	37	chr19	43262160	43262160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaaatactcacggaggaGattcagggtgaatgggtcac	14	7	13	7	1	3	3	3	1	0	2	3	5	3	4	0	4	1	0	0	4	4	2			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:43262160G>A	ENST00000404209.4	-	3	799	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F	PSG8_ENST00000406636.3_Missense_Mutation_p.L113F|PSG8_ENST00000306511.4_Missense_Mutation_p.L235F|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	235						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TCACGGAGGAGATTCAGGGTG	0.527													24	117					0	0	0	0	A	43262160	G	A	43262160	3	1	91	1	0	0	0	0	1	0	0	0	12740	942	33	2	610	2	PSG8	19	43262160	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	25786011	43262160	15866823	153	17749											
ZNF229	7772	broad.mit.edu	37	chr19	44934288	44934288	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacatgacaagatatccagCaaaagctgtcatcatcccag	16	7	6	12	0	2	2	2	1	0	1	4	2	4	2	2	0	3	2	2	0	5	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:44934288C>G	ENST00000291187.4	-	6	972	c.650G>C	c.(649-651)tGc>tCc	p.C217S	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.C223S	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGATATCCAGCAAAAGCTGTC	0.378													5	94					0	0	0	0	G	44934288	C	G	44934288	3	3	91	1	0	0	0	0	1	0	0	0	17877	710	25	4	1813	4	ZNF229	19	44934288	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	1672128	44934288	14194695	154	17750											
ZNF577	84765	broad.mit.edu	37	chr19	52383578	52383578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagcaatgacaaatttacctCccctgaagaactgccttgct	12	10	6	13	0	0	3	0	2	0	1	1	3	1	3	4	0	5	2	4	0	5	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:52383578C>G	ENST00000420592.1	-	3	1391	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.E20Q|ZNF577_ENST00000412216.1_Missense_Mutation_p.E20Q|ZNF577_ENST00000451628.2_Missense_Mutation_p.E20Q			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		aaatttacctcccctgaagaa	0.423													22	110					0	0	0	0	G	52383578	C	G	52383578	3	3	91	1	0	0	0	0	1	0	0	0	18104	864	30	2	1415	2	ZNF577	19	52383578	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	7449290	52383578	6745405	155	17751											
ZNF649	65251	broad.mit.edu	37	chr19	52394790	52394790	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggggtttctttcctgtaTgaattctcttatgctcagtg	5	18	10	8	1	3	1	1	1	2	0	5	1	4	1	1	2	1	3	1	2	3	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:52394790T>C	ENST00000354957.3	-	5	883	c.599A>G	c.(598-600)cAt>cGt	p.H200R	ZNF649_ENST00000600738.1_Missense_Mutation_p.H200R|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTTCCTGTATGAATTCTCTT	0.463													11	45					0	0	0	0	C	52394790	T	C	52394790	3	2	91	1	0	0	0	0	1	0	0	0	18159	1464	51	5	922	5	ZNF649	19	52394790	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08	11212	52394790	6734193	156	17752											
CACNG8	59283	broad.mit.edu	37	chr19	54466610	54466610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccccaccgcgggggcggcGgcgcctcggagaagaaggac	7	1	17	16	6	0	2	0	0	0	2	1	4	0	3	5	6	0	0	5	6	2	0			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:54466610G>A	ENST00000270458.2	+	1	317	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	72					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGGGGGCGGCGGCGCCTCGGA	0.726													3	7					0	0	0	0	A	54466610	G	A	54466610	3	1	91	1	0	0	0	0	1	0	0	0	2588	1116	39	1	216	1	CACNG8	19	54466610	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	2071820	54466610	4662373	157	17753											
LILRA6	79168	broad.mit.edu	37	chr19	54746049	54746049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccagtgggttatttctgtCcaagggctctgggcttccct	4	15	11	11	0	2	0	0	0	2	0	5	0	5	0	3	3	0	3	3	3	2	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:54746049C>A	ENST00000440558.2	-	3	256	c.208G>T	c.(208-210)Gac>Tac	p.D70Y	LILRA6_ENST00000396365.2_Missense_Mutation_p.D70Y|LILRB3_ENST00000407860.2_Missense_Mutation_p.D70Y|LILRA6_ENST00000391735.3_Missense_Mutation_p.D70Y|LILRA6_ENST00000270464.5_Missense_Mutation_p.D70Y|LILRA6_ENST00000245621.5_Missense_Mutation_p.D70Y|LILRA6_ENST00000419410.2_Missense_Mutation_p.D70Y					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTATTTCTGTCCAAGGGCTCT	0.567													18	147					2.98393e-07	8.00661e-06	1	0	A	54746049	C	A	54746049	3	1	91	1	0	0	0	0	1	0	0	0	8843	855	30	2	1261	2	LILRA6	19	54746049	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	279439	54746049	4382934	158	17754											
PTPRH	5794	broad.mit.edu	37	chr19	55718094	55718094	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccacagagctatttacTccgtctttctccacccacac	8	11	4	18	1	2	1	0	0	2	1	5	1	4	1	5	0	2	1	5	0	2	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:55718094T>A	ENST00000376350.3	-	3	337	c.315A>T	c.(313-315)ggA>ggT	p.G105G	PTPRH_ENST00000263434.5_Silent_p.G105G|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	105	Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGCTATTTACTCCGTCTTTCT	0.498													14	80					0	0	0	0	A	55718094	T	A	55718094	2	1	91	1	0	0	0	0	0	0	0	1	12885	1538	54	5		5	PTPRH	19	55718094	Silent	SNP	T	TCGA-CN-6010-01A-11D-1683-08	972045	55718094	3410889	159	17755											
PEG3	5178	broad.mit.edu	37	chr19	57328305	57328305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttacattcaaaacgtttcCctccaacctgacttttctga	10	14	3	14	1	2	2	1	2	1	0	4	2	4	2	4	0	3	1	4	0	4	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:57328305C>T	ENST00000326441.9	-	10	1868	c.1505G>A	c.(1504-1506)gGg>gAg	p.G502E	PEG3_ENST00000593695.1_Missense_Mutation_p.G376E|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G378E|PEG3_ENST00000423103.2_Missense_Mutation_p.G502E	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	502					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAACGTTTCCCTCCAACCTG	0.453													15	83					0	0	0	0	T	57328305	C	T	57328305	3	4	91	1	0	0	0	0	1	0	0	0	11791	623	22	4	3265	4	PEG3	19	57328305	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	1610211	57328305	1800678	160	17756											
XRN2	22803	broad.mit.edu	37	chr20	21336733	21336733	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctagccagaagaaacagccTtggaggtgatgtcttatttg	11	11	11	8	0	1	3	0	1	1	2	1	4	1	4	3	2	3	0	3	2	4	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr20:21336733T>C	ENST00000377191.3	+	22	2131	c.2036T>C	c.(2035-2037)cTt>cCt	p.L679P	XRN2_ENST00000430571.2_Missense_Mutation_p.L603P|XRN2_ENST00000539513.1_Missense_Mutation_p.L625P	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	679					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AGAAACAGCCTTGGAGGTGAT	0.403													7	55					0	0	0	0	C	21336733	T	C	21336733	3	2	91	1	0	0	0	0	1	0	0	0	17556	1609	56	5	2122	5	XRN2	20	21336733	Missense_Mutation	SNP	T	TCGA-CN-6010-01A-11D-1683-08		21336733	41688787	161	17757											
TTC3	7267	broad.mit.edu	37	chr21	38516833	38516833	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgactttagatttctagAagctctcaatcactttgaga	12	16	6	7	0	3	4	2	2	2	3	4	5	3	4	0	0	1	1	0	0	5	6			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr21:38516833A>C	ENST00000399017.2	+	21	4528	c.1781A>C	c.(1780-1782)gAa>gCa	p.E594A	TTC3_ENST00000540756.1_Missense_Mutation_p.E284A|TTC3_ENST00000355666.1_Missense_Mutation_p.E594A|TTC3_ENST00000354749.2_Missense_Mutation_p.E594A|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	594					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGATTTCTAGAAGCTCTCAAT	0.373													25	83					0	0	0	0	C	38516833	A	C	38516833	3	2	91	1	0	0	0	0	1	0	0	0	16793	246	9	5	1859	5	TTC3	21	38516833	Missense_Mutation	SNP	A	TCGA-CN-6010-01A-11D-1683-08		38516833	9613062	162	17758											
NEFH	4744	broad.mit.edu	37	chr22	29885318	29885318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaaagtcaccgcctgaGgccaagtccccagagaagga	13	3	13	12	1	1	2	1	1	0	1	2	5	2	3	5	3	0	1	5	3	3	0			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr22:29885318G>T	ENST00000310624.6	+	4	1722	c.1689G>T	c.(1687-1689)gaG>gaT	p.E563D		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	563	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CACCGCCTGAGGCCAAGTCCC	0.572													6	39					2.0095e-06	5.21709e-05	1	0	T	29885318	G	T	29885318	3	4	91	1	0	0	0	0	1	0	0	0	10384	991	35	4	1703	4	NEFH	22	29885318	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08		29885318	21419248	163	17759											
NR0B1	190	broad.mit.edu	37	chrX	30322942	30322942	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcaggcccggcacgtcTggagggagaaaaatctcttt	10	8	12	11	2	2	1	0	0	2	1	3	3	2	2	1	4	1	2	1	4	2	1			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chrX:30322942T>A	ENST00000378970.4	-	2	1403		c.e2-2			NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1						adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCGGCACGTCTGGAGGGAGAA	0.473													5	7					0	0	0	0	A	30322942	T	A	30322942	5	1	91	1	0	0	0	0	0	0	1	0	10684	1594	55	5	249	5	NR0B1	23	30322942	Splice_Site	SNP	T	TCGA-CN-6010-01A-11D-1683-08		30322942	124947618	164	17760											
PCDH11X	27328	broad.mit.edu	37	chrX	91132758	91132758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agatcaattacctgctaggcCctgatgctccacctgaattc	10	11	7	13	0	1	3	1	2	0	1	3	3	2	3	4	1	3	2	4	1	4	3			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chrX:91132758C>A	ENST00000373094.1	+	2	2364	c.1519C>A	c.(1519-1521)Cct>Act	p.P507T	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P507T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P507T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P507T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P507T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P507T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P507T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P507T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P507T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	507	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCTGCTAGGCCCTGATGCTCC	0.423													12	10					1.08611e-07	2.94722e-06	1	0	A	91132758	C	A	91132758	3	1	91	1	0	0	0	0	1	0	0	0	11579	623	22	4	1525	4	PCDH11X	23	91132758	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	60809816	91132758	64137802	165	17761											
GPRASP2	114928	broad.mit.edu	37	chrX	101969805	101969805	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtaacttgtaccatgactgGggcagagattgagcctagtg	10	11	13	7	0	0	3	0	2	0	1	0	4	0	3	2	2	3	3	2	2	3	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chrX:101969805G>C	ENST00000543253.1	+	5	927	c.8G>C	c.(7-9)gGg>gCg	p.G3A	GPRASP2_ENST00000332262.5_Missense_Mutation_p.G3A|GPRASP2_ENST00000535209.1_Missense_Mutation_p.G3A	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						accatgactGGGGCAGAGATT	0.498													3	39					0	0	0	0	C	101969805	G	C	101969805	3	2	91	1	0	0	0	0	1	0	0	0	6773	1232	43	4	10	4	GPRASP2	23	101969805	Missense_Mutation	SNP	G	TCGA-CN-6010-01A-11D-1683-08	10837047	101969805	53300755	166	17762											
CHRDL1	91851	broad.mit.edu	37	chrX	109919483	109919483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcccttttcagatctCtccaggtacaaaaccttgac	10	11	7	13	0	2	2	1	1	1	1	4	2	3	2	3	2	2	1	3	2	3	4			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chrX:109919483C>A	ENST00000218054.4	-	12	1543	c.1347G>T	c.(1345-1347)gaG>gaT	p.E449D	CHRDL1_ENST00000434224.1_Missense_Mutation_p.E370D|CHRDL1_ENST00000394797.4_Missense_Mutation_p.E449D|CHRDL1_ENST00000444321.2_Missense_Mutation_p.E450D|CHRDL1_ENST00000482160.1_Missense_Mutation_p.E371D|CHRDL1_ENST00000372045.1_Missense_Mutation_p.E443D|CHRDL1_ENST00000372042.1_Missense_Mutation_p.E451D	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	443					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TTTCAGATCTCTCCAGGTACA	0.448													29	44					2.46105e-21	7.2518e-20	1	0	A	109919483	C	A	109919483	3	1	91	1	0	0	0	0	1	0	0	0	3402	912	32	2	27	2	CHRDL1	23	109919483	Missense_Mutation	SNP	C	TCGA-CN-6010-01A-11D-1683-08	7949678	109919483	45351077	167	17763											
SAGE1	55511	broad.mit.edu	37	chrX	134994090	134994090	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaaatatcaattaatgaaAgaagttcgaaggtttgggca	18	11	9	3	1	1	2	1	1	0	1	2	3	1	2	0	2	0	3	0	2	8	5			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chrX:134994090A>G	ENST00000535938.1	+	18	2666	c.2499A>G	c.(2497-2499)aaA>aaG	p.K833K	SAGE1_ENST00000324447.3_Silent_p.K833K|SAGE1_ENST00000370709.3_Silent_p.K833K|SAGE1_ENST00000537770.1_Silent_p.K457K	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	833										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AATTAATGAAAGAAGTTCGAA	0.348													14	61					0	0	0	0	G	134994090	A	G	134994090	2	3	91	1	0	0	0	0	0	0	0	1	13894	69	3	5		5	SAGE1	23	134994090	Silent	SNP	A	TCGA-CN-6010-01A-11D-1683-08	25074607	134994090	20276470	168	17764											
AGRN	375790	broad.mit.edu	37	chr1	981868	981868	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcactgccggcccccccCggcgccctccccctggctcc	2	4	10	25	3	0	0	0	0	0	0	2	0	2	0	9	4	1	2	9	4	0	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:981868C>T	ENST00000379370.2	+	18	3053	c.3003C>T	c.(3001-3003)ccC>ccT	p.P1001P		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1001	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CGGCCCCCCCCGGCGCCCTCC	0.701													4	26					0	0	0	0	T	981868	C	T	981868	2	4	92	1	0	0	0	0	0	0	0	1	397	639	23	1		1	AGRN	1	981868	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08		981868	248268753	1	17765											
NBPF1	55672	broad.mit.edu	37	chr1	16893778	16893778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagataacctgaaggagttGaataacatctatccagtgag	16	9	9	7	0	1	4	0	3	1	1	2	5	2	5	2	1	2	1	2	1	6	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:16893778G>A	ENST00000430580.2	-	25	3622	c.2735C>T	c.(2734-2736)tCa>tTa	p.S912L	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	912	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGAAGGAGTTGAATAACATCT	0.483													19	926					0	0	0	0	A	16893778	G	A	16893778	3	1	92	1	0	0	0	0	1	0	0	0	10262	1294	45	2	709	2	NBPF1	1	16893778	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	15911910	16893778	232356843	2	17766											
UBR4	23352	broad.mit.edu	37	chr1	19473443	19473443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtccaaatccttgccctCtttgctagatgtgttgagac	8	13	10	10	0	1	2	0	1	1	2	3	3	3	2	3	1	2	2	3	1	2	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:19473443C>T	ENST00000375267.2	-	52	7684	c.7681G>A	c.(7681-7683)Gag>Aag	p.E2561K	UBR4_ENST00000375226.2_Missense_Mutation_p.E2572K|UBR4_ENST00000375254.3_Missense_Mutation_p.E2561K|UBR4_ENST00000375217.2_Missense_Mutation_p.E2561K			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2561					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCCTTGCCCTCTTTGCTAGAT	0.527													57	175					0	0	0	0	T	19473443	C	T	19473443	3	4	92	1	0	0	0	0	1	0	0	0	17000	922	32	2	8090	2	UBR4	1	19473443	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	2579665	19473443	229777178	3	17767											
RPS6KA1	6195	broad.mit.edu	37	chr1	26898704	26898704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggtcccagtgacacaccaGaggaaatcctaacccggatc	13	5	9	14	2	0	2	0	1	0	1	3	4	2	4	4	3	1	0	4	3	2	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:26898704G>A	ENST00000374168.2	+	20	2021	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E607K|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E531K|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E531K|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E612K|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E632K	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	623	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TGACACACCAGAGGAAATCCT	0.567													10	55					0	0	0	0	A	26898704	G	A	26898704	3	1	92	1	0	0	0	0	1	0	0	0	13735	943	33	2	2084	2	RPS6KA1	1	26898704	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	7425261	26898704	222351917	4	17768											
GPATCH3	63906	broad.mit.edu	37	chr1	27220788	27220788	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaggccagagccacccttCtcccacttgagctcaatctc	9	8	6	18	0	3	2	1	1	2	1	5	2	3	2	5	1	2	1	5	1	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:27220788C>T	ENST00000361720.5	-	3	1013	c.990G>A	c.(988-990)gaG>gaA	p.E330E		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	330	Glu-rich.					intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCACCCTTCTCCCACTTGA	0.582													41	95					0	0	0	0	T	27220788	C	T	27220788	2	4	92	1	0	0	0	0	0	0	0	1	6641	912	32	2		2	GPATCH3	1	27220788	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	322084	27220788	222029833	5	17769											
GPATCH3	63906	broad.mit.edu	37	chr1	27223839	27223839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccttccccacttcttcctCaggctctccacaggggctgg	4	12	8	17	0	3	0	1	0	2	0	7	0	6	0	5	4	0	2	5	4	0	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:27223839C>G	ENST00000361720.5	-	2	852	c.829G>C	c.(829-831)Gag>Cag	p.E277Q		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	277	Glu-rich.					intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		ACTTCTTCCTCAGGCTCTCCA	0.542													48	118					0	0	0	0	G	27223839	C	G	27223839	3	3	92	1	0	0	0	0	1	0	0	0	6641	835	29	2	772	2	GPATCH3	1	27223839	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	3051	27223839	222026782	6	17770											
EYA3	2140	broad.mit.edu	37	chr1	28374933	28374933	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcctgcatcttggcttttTtcacctgcaaaaataaatat	12	16	4	9	0	2	0	1	0	1	0	3	0	3	0	2	1	2	3	2	1	5	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:28374933T>C	ENST00000373871.3	-	3	278	c.38A>G	c.(37-39)aAa>aGa	p.K13R	EYA3_ENST00000545175.1_5'UTR|EYA3_ENST00000373863.3_Missense_Mutation_p.K13R|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000540618.1_Missense_Mutation_p.K13R|EYA3_ENST00000436342.2_5'UTR|EYA3_ENST00000471498.1_5'UTR			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	13					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		CTTGGCTTTTTTCACCTGCAA	0.289													8	25					0	0	0	0	C	28374933	T	C	28374933	3	2	92	1	0	0	0	0	1	0	0	0	5368	1841	64	5	1747	5	EYA3	1	28374933	Missense_Mutation	SNP	T	TCGA-CN-6011-01A-11D-1683-08	1151094	28374933	220875688	7	17771											
ZMYM1	79830	broad.mit.edu	37	chr1	35579545	35579545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aacttatctgcagcaaattgGagttgatatggataaaatac	16	12	8	5	0	1	1	0	1	1	0	1	3	1	3	0	2	4	3	0	2	7	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:35579545G>C	ENST00000373330.1	+	11	2288	c.2114G>C	c.(2113-2115)gGa>gCa	p.G705A	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.G705A			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	705						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGCAAATTGGAGTTGATATG	0.353													8	43					0	0	0	0	C	35579545	G	C	35579545	3	2	92	1	0	0	0	0	1	0	0	0	17794	1174	41	2	2148	2	ZMYM1	1	35579545	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	7204612	35579545	213671076	8	17772											
ZMYM1	79830	broad.mit.edu	37	chr1	35579633	35579633	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatagcagcagaattcaaGaaagaagaaccaagagcttt	21	6	8	6	0	1	5	1	0	0	5	1	5	1	5	1	0	4	3	1	0	9	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:35579633G>C	ENST00000373330.1	+	11	2376	c.2202G>C	c.(2200-2202)aaG>aaC	p.K734N	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.K734N			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	734						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGAATTCAAGAAAGAAGAAC	0.323													12	47					0	0	0	0	C	35579633	G	C	35579633	3	2	92	1	0	0	0	0	1	0	0	0	17794	933	33	2	2236	2	ZMYM1	1	35579633	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	88	35579633	213670988	9	17773											
MFSD2A	84879	broad.mit.edu	37	chr1	40434278	40434278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccgtggctgctcgcagccgGaacgtgtcaagtttacactg	7	9	12	13	4	1	0	1	0	0	0	2	1	1	1	2	2	4	4	2	2	3	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:40434278G>A	ENST00000372809.5	+	13	1572	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	MFSD2A_ENST00000372811.5_Missense_Mutation_p.E464K|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Missense_Mutation_p.E308K	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	477					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTCGCAGCCGGAACGTGTCAA	0.587													45	84					0	0	0	0	A	40434278	G	A	40434278	3	1	92	1	0	0	0	0	1	0	0	0	9599	1175	41	2	1479	2	MFSD2A	1	40434278	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	4854645	40434278	208816343	10	17774											
HIVEP3	59269	broad.mit.edu	37	chr1	41976647	41976647	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcctcccgggcccctgtCaggtcgctgccacccccgga	3	6	13	19	3	1	0	1	0	0	0	3	1	2	1	7	4	1	1	7	4	0	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:41976647C>G	ENST00000372584.1	-	8	7707	c.6693G>C	c.(6691-6693)ctG>ctC	p.L2231L	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Silent_p.L2231L|HIVEP3_ENST00000372583.1_Silent_p.L2232L|HIVEP3_ENST00000247584.5_Silent_p.L2232L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2232					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)				GGGCCCCTGTCAGGTCGCTGC	0.692													21	37					0	0	0	0	G	41976647	C	G	41976647	2	3	92	1	0	0	0	0	0	0	0	1	7238	813	29	2		2	HIVEP3	1	41976647	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1542369	41976647	207273974	11	17775											
TOE1	114034	broad.mit.edu	37	chr1	45809091	45809091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctgaaatagctgataGagctacctcagaagtgccag	14	7	11	9	0	1	4	1	2	0	2	1	4	1	4	3	1	4	2	3	1	6	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:45809091G>T	ENST00000372090.5	+	8	1833	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I	TOE1_ENST00000539779.1_Missense_Mutation_p.R337I|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	417						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					ATAGCTGATAGAGCTACCTCA	0.517													40	35					5.71845e-15	6.20458e-15	1	0	T	45809091	G	T	45809091	3	4	92	1	0	0	0	0	1	0	0	0	16443	942	33	2	1280	2	TOE1	1	45809091	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	3832444	45809091	203441530	12	17776											
CYP4A11	1579	broad.mit.edu	37	chr1	47401219	47401219	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctggatgctgccctgaTggctgaaggcacacttcatg	8	9	11	13	0	1	2	1	2	0	0	1	3	1	3	3	3	2	3	3	3	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:47401219T>G	ENST00000310638.4	-	5	642	c.611A>C	c.(610-612)cAt>cCt	p.H204P	CYP4A11_ENST00000457840.2_Missense_Mutation_p.H100P|CYP4A11_ENST00000371904.4_Missense_Mutation_p.H204P|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.H204P	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	204					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCTGCCCTGATGGCTGAAGGC	0.572													17	59					0	0	0	0	G	47401219	T	G	47401219	3	3	92	1	0	0	0	0	1	0	0	0	4215	1464	51	5	980	5	CYP4A11	1	47401219	Missense_Mutation	SNP	T	TCGA-CN-6011-01A-11D-1683-08	1592128	47401219	201849402	13	17777											
FOXD2	2306	broad.mit.edu	37	chr1	47904276	47904276	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgagatctgcgagttcAtcagcggccgcttcccctac	7	9	11	14	4	3	2	2	1	1	1	4	4	4	2	3	1	4	2	3	1	1	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:47904276A>G	ENST00000334793.5	+	1	2588	c.469A>G	c.(469-471)Atc>Gtc	p.I157V		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	157					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		CTGCGAGTTCATCAGCGGCCG	0.617													21	45					0	0	0	0	G	47904276	A	G	47904276	3	3	92	1	0	0	0	0	1	0	0	0	6042	217	8	5	471	5	FOXD2	1	47904276	Missense_Mutation	SNP	A	TCGA-CN-6011-01A-11D-1683-08	503057	47904276	201346345	14	17778											
ZFYVE9	9372	broad.mit.edu	37	chr1	52810452	52810452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaacaggtgtttttcctaGaaaacgatgaccagcacaat	14	9	10	8	1	0	2	0	1	0	1	1	4	1	3	2	2	3	2	2	2	5	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:52810452G>A	ENST00000287727.3	+	18	4124	c.3952G>A	c.(3952-3954)Gaa>Aaa	p.E1318K	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.E1318K|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E1259K	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1318					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GTTTTTCCTAGAAAACGATGA	0.433													20	49					0	0	0	0	A	52810452	G	A	52810452	3	1	92	1	0	0	0	0	1	0	0	0	17766	943	33	2	4025	2	ZFYVE9	1	52810452	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	4906176	52810452	196440169	15	17779											
ZYG11B	79699	broad.mit.edu	37	chr1	53262010	53262010	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtggctttgcaaccatgagGatcaaaacatgcaaaggatg	15	8	11	7	0	1	1	1	1	0	0	1	3	1	3	1	3	4	3	1	3	4	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:53262010G>C	ENST00000294353.6	+	7	1526	c.1381G>C	c.(1381-1383)Gat>Cat	p.D461H	ZYG11B_ENST00000545132.1_Missense_Mutation_p.D461H|ZYG11B_ENST00000443756.2_Missense_Mutation_p.D461H	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	461							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CAACCATGAGGATCAAAACAT	0.433													11	35					0	0	0	0	C	53262010	G	C	53262010	3	2	92	1	0	0	0	0	1	0	0	0	18344	1174	41	2	1407	2	ZYG11B	1	53262010	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	451558	53262010	195988611	16	17780											
CYP2J2	1573	broad.mit.edu	37	chr1	60381745	60381746	+	Frame_Shift_Ins	INS	-	-	A																															atgtcaccaagctccaagctINSaaaaaggttcccatatttct																										TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:60381745_60381746insA	ENST00000371204.3	-	2	280_281	c.237_238insT	c.(235-240)ttgcttfs	p.LL79fs		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	79					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	p.S80G(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AGCTCCAAGCTAAAAAGGTTCC	0.411													21	65	---	---	---	---					A	60381746	-	A	60381745	7	5	92	1	0	1	1	0	0	0	0	0	4204	1522	53	0	1302	0	CYP2J2	1	60381745	Frame_Shift_Ins	INS	-	TCGA-CN-6011-01A-11D-1683-08	7119735	60381745	188868876	17	17781											
PTGER3	5733	broad.mit.edu	37	chr1	71478156	71478156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgattgaagatcattttCaacatcattatctaagaaaa	16	14	5	6	0	5	4	3	2	2	2	5	4	5	4	0	0	1	0	0	0	6	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:71478156C>G	ENST00000370924.4	-	2	1139	c.909G>C	c.(907-909)ttG>ttC	p.L303F	PTGER3_ENST00000414819.1_Missense_Mutation_p.L303F|PTGER3_ENST00000370931.3_Missense_Mutation_p.L303F|PTGER3_ENST00000370932.2_Missense_Mutation_p.L303F|PTGER3_ENST00000306666.5_Missense_Mutation_p.L303F|PTGER3_ENST00000356595.4_Missense_Mutation_p.L303F|PTGER3_ENST00000354608.5_Missense_Mutation_p.L303F|PTGER3_ENST00000351052.5_Missense_Mutation_p.L303F|PTGER3_ENST00000460330.1_Missense_Mutation_p.L303F	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	303					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	AGATCATTTTCAACATCATTA	0.383													14	35					0	0	0	0	G	71478156	C	G	71478156	3	3	92	1	0	0	0	0	1	0	0	0	12824	825	29	2	578	2	PTGER3	1	71478156	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	11096411	71478156	177772465	18	17782											
CRYZ	1429	broad.mit.edu	37	chr1	75188946	75188946	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaccacatgcatggaccttGattagaacctgcaatgacaa	15	8	7	11	0	0	3	0	2	0	1	0	4	0	4	3	1	3	2	3	1	4	2	rs146208357	byFrequency	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:75188946G>A	ENST00000417775.1	-	4	624	c.120C>T	c.(118-120)atC>atT	p.I40I	CRYZ_ENST00000340866.5_Silent_p.I40I|CRYZ_ENST00000370872.3_5'UTR|CRYZ_ENST00000370871.3_Silent_p.I40I	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	40					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	CATGGACCTTGATTAGAACCT	0.408													27	67					0	0	0	0	A	75188946	G	A	75188946	2	1	92	1	0	0	0	0	0	0	0	1	3952	1280	45	2		2	CRYZ	1	75188946	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	3710790	75188946	174061675	19	17783											
MCOLN2	255231	broad.mit.edu	37	chr1	85403762	85403762	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagagatcatagtttgtgaGattctaaggaatgaaaaaaa	18	10	10	3	0	2	3	1	2	1	2	2	6	2	4	0	1	0	2	0	1	6	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:85403762G>C	ENST00000370608.3	-	10	1181	c.1114C>G	c.(1114-1116)Ctc>Gtc	p.L372V	MCOLN2_ENST00000284027.5_Missense_Mutation_p.L344V|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	372						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TAGTTTGTGAGATTCTAAGGA	0.338													23	26					0	0	0	0	C	85403762	G	C	85403762	3	2	92	1	0	0	0	0	1	0	0	0	9465	942	33	2	606	2	MCOLN2	1	85403762	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	10214816	85403762	163846859	20	17784											
HFM1	164045	broad.mit.edu	37	chr1	91813030	91813030	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgttcaatccagatgcaAaacctgcatgtcatgaaaaa	15	11	6	9	0	2	2	2	1	0	1	3	2	3	2	2	0	3	3	2	0	5	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:91813030A>G	ENST00000370425.3	-	19	2308	c.2210T>C	c.(2209-2211)tTt>tCt	p.F737S	HFM1_ENST00000370424.3_Missense_Mutation_p.F416S|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	737							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCCAGATGCAAAACCTGCATG	0.303													8	36					0	0	0	0	G	91813030	A	G	91813030	3	3	92	1	0	0	0	0	1	0	0	0	7133	14	1	5	2181	5	HFM1	1	91813030	Missense_Mutation	SNP	A	TCGA-CN-6011-01A-11D-1683-08	6409268	91813030	157437591	21	17785											
EPHX4	253152	broad.mit.edu	37	chr1	92495681	92495681	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccgcctgatgctcacgctCcggtccctgctcttctggtc	2	11	9	19	3	3	1	1	1	2	0	6	1	5	1	5	2	2	3	5	2	0	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:92495681C>T	ENST00000370383.4	+	1	143	c.45C>T	c.(43-45)ctC>ctT	p.L15L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	15						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGCTCACGCTCCGGTCCCTGC	0.701													7	18					0	0	0	0	T	92495681	C	T	92495681	2	4	92	1	0	0	0	0	0	0	0	1	5220	842	30	2		2	EPHX4	1	92495681	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	682651	92495681	156754940	22	17786											
ARHGAP29	9411	broad.mit.edu	37	chr1	94643210	94643210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctaacgcattttgcttgcGttctgattcctcaaatgatg	8	16	7	10	2	2	2	1	2	1	0	4	2	4	2	2	0	3	3	2	0	2	6	rs141790636		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:94643210G>A	ENST00000260526.6	-	22	3045	c.2863C>T	c.(2863-2865)Cgc>Tgc	p.R955C	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	955					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTTGCTTGCGTTCTGATTCC	0.343													19	56					0	0	0	0	A	94643210	G	A	94643210	3	1	92	1	0	0	0	0	1	0	0	0	880	1145	40	1	930	1	ARHGAP29	1	94643210	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2147529	94643210	154607411	23	17787											
HAO2	51179	broad.mit.edu	37	chr1	119927521	119927521	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctatgtgcatccagacctgCagctgaacaaacagttgatc	12	10	8	11	0	1	3	0	2	1	1	3	3	2	3	2	0	5	4	2	0	3	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:119927521C>T	ENST00000361035.4	+	5	728	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	HAO2_ENST00000325945.3_Nonsense_Mutation_p.Q136*	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	136	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TCCAGACCTGCAGCTGAACAA	0.478													23	59					0	0	0	0	T	119927521	C	T	119927521	4	4	92	1	0	0	0	0	0	1	0	0	7002	711	25	4	416	4	HAO2	1	119927521	Nonsense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	25284311	119927521	129323100	24	17788											
VPS45	11311	broad.mit.edu	37	chr1	150054908	150054908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagtgaacggaatctgctgGaggtttcagaggttgagcaa	11	10	14	6	1	3	3	2	2	1	1	3	5	3	5	0	4	3	4	0	4	3	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:150054908G>A	ENST00000369130.3	+	10	1591	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	VPS45_ENST00000535106.1_Missense_Mutation_p.E280K|VPS45_ENST00000369128.5_Missense_Mutation_p.E244K	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	349					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAATCTGCTGGAGGTTTCAGA	0.453													18	34					0	0	0	0	A	150054908	G	A	150054908	3	1	92	1	0	0	0	0	1	0	0	0	17307	1175	41	2	1083	2	VPS45	1	150054908	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	30127387	150054908	99195713	25	17789											
SETDB1	9869	broad.mit.edu	37	chr1	150915471	150915471	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaatacaaagatgggaatCaggtctggctctatgctggc	12	9	11	9	0	3	1	1	0	2	1	3	2	3	2	1	4	2	2	1	4	5	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:150915471C>G	ENST00000271640.5	+	7	1007	c.817C>G	c.(817-819)Cag>Gag	p.Q273E	SETDB1_ENST00000368969.4_Missense_Mutation_p.Q273E|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368962.2_Missense_Mutation_p.Q273E|SETDB1_ENST00000368963.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	273	Tudor 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGATGGGAATCAGGTCTGGCT	0.517													24	75					0	0	0	0	G	150915471	C	G	150915471	3	3	92	1	0	0	0	0	1	0	0	0	14225	827	29	2	839	2	SETDB1	1	150915471	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	860563	150915471	98335150	26	17790											
CGN	57530	broad.mit.edu	37	chr1	151505015	151505015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggccagtgaggctgagaaGacctctggaggactgagccg	9	6	17	9	1	1	4	0	3	1	2	1	7	1	6	3	4	1	1	3	4	1	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:151505015G>C	ENST00000271636.7	+	14	2842	c.2709G>C	c.(2707-2709)aaG>aaC	p.K903N		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	897						myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGCTGAGAAGACCTCTGGAG	0.522													7	36					0	0	0	0	C	151505015	G	C	151505015	3	2	92	1	0	0	0	0	1	0	0	0	3332	933	33	2	2759	2	CGN	1	151505015	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	589544	151505015	97745606	27	17791											
FLG2	388698	broad.mit.edu	37	chr1	152329438	152329438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccacatgcatgacttcgcCtcccactgtctcctgaacct	9	10	5	17	1	1	2	0	2	1	0	4	2	2	2	5	0	3	1	5	0	2	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:152329438C>T	ENST00000388718.5	-	3	896	c.824G>A	c.(823-825)aGg>aAg	p.R275K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	275	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACTTCGCCTCCCACTGTC	0.448													93	26					0	0	0	0	T	152329438	C	T	152329438	3	4	92	1	0	0	0	0	1	0	0	0	5968	681	24	4	6355	4	FLG2	1	152329438	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	824423	152329438	96921183	28	17792											
CRNN	49860	broad.mit.edu	37	chr1	152382205	152382205	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctggtccagcctgaggatCactgtctcccttgagtggtc	5	11	11	14	0	2	2	1	2	1	0	5	3	3	3	4	3	1	0	4	3	0	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:152382205C>G	ENST00000271835.3	-	3	1415	c.1353G>C	c.(1351-1353)gtG>gtC	p.V451V	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	451					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGAGGATCACTGTCTCCC	0.577													16	56					0	0	0	0	G	152382205	C	G	152382205	2	3	92	1	0	0	0	0	0	0	0	1	3922	813	29	2		2	CRNN	1	152382205	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	52767	152382205	96868416	29	17793											
S100A7A	338324	broad.mit.edu	37	chr1	153391671	153391671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctttgagaaaaaggacaaGaatgaggataagaagattga	19	8	12	2	0	1	6	0	3	1	4	1	9	1	8	0	2	0	0	0	2	6	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:153391671G>C	ENST00000368729.4	+	3	249	c.192G>C	c.(190-192)aaG>aaC	p.K64N	S100A7A_ENST00000368728.2_Missense_Mutation_p.K64N|S100A7A_ENST00000329256.2_Missense_Mutation_p.K64N	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	64	EF-hand 2.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAAGGACAAGAATGAGGATA	0.423													24	60					0	0	0	0	C	153391671	G	C	153391671	3	2	92	1	0	0	0	0	1	0	0	0	13869	933	33	2	198	2	S100A7A	1	153391671	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1009466	153391671	95858950	30	17794											
KCNN3	3782	broad.mit.edu	37	chr1	154841649	154841649	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagcttatagccaatgttTtggtttttccgcttgttggc	5	17	9	10	1	0	0	0	0	0	0	1	0	1	0	3	2	2	5	3	2	3	8			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:154841649T>C	ENST00000271915.3	-	1	1107	c.792A>G	c.(790-792)caA>caG	p.Q264Q		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	269						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			AGCCAATGTTTTGGTTTTTCC	0.512													71	21					0	0	0	0	C	154841649	T	C	154841649	2	2	92	1	0	0	0	0	0	0	0	1	8133	1838	64	5		5	KCNN3	1	154841649	Silent	SNP	T	TCGA-CN-6011-01A-11D-1683-08	1449978	154841649	94408972	31	17795											
FCER1A	2205	broad.mit.edu	37	chr1	159275900	159275900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attataaggatggtgaagctCtcaagtactggtatgagaac	14	11	11	5	0	1	2	1	2	1	1	2	4	1	3	0	3	3	3	0	3	7	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:159275900C>T	ENST00000368115.1	+	5	553	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F	FCER1A_ENST00000368114.1_Missense_Mutation_p.L119F	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	152	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGGTGAAGCTCTCAAGTACTG	0.498													26	57					0	0	0	0	T	159275900	C	T	159275900	3	4	92	1	0	0	0	0	1	0	0	0	5819	913	32	2	468	2	FCER1A	1	159275900	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	4434251	159275900	89974721	32	17796											
TDRD5	163589	broad.mit.edu	37	chr1	179603612	179603612	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtcagataagaaaataGaagccaaagcttgtgtctcc	15	10	8	8	0	3	3	2	0	1	3	4	3	3	3	2	0	2	1	2	0	6	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:179603612G>T	ENST00000444136.1	+	8	1397	c.1147G>T	c.(1147-1149)Gaa>Taa	p.E383*	TDRD5_ENST00000367614.1_Nonsense_Mutation_p.E383*|TDRD5_ENST00000294848.8_Nonsense_Mutation_p.E383*	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	383	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAAGAAAATAGAAGCCAAAGC	0.383													22	72					6.32553e-13	6.8024e-13	1	0	T	179603612	G	T	179603612	4	4	92	1	0	0	0	0	0	1	0	0	15827	943	33	2	1173	2	TDRD5	1	179603612	Nonsense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	20327712	179603612	69647009	33	17797											
KDM5B	10765	broad.mit.edu	37	chr1	202702867	202702867	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccctgcagagttcacattGaatcataggggcagctgggg	10	9	13	9	0	2	2	2	1	0	1	3	2	3	2	1	4	2	4	1	4	2	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:202702867G>A	ENST00000367265.3	-	23	4735	c.3571C>T	c.(3571-3573)Caa>Taa	p.Q1191*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Q1227*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1191					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGTTCACATTGAATCATAGGG	0.517													21	47					0	0	0	0	A	202702867	G	A	202702867	4	1	92	1	0	0	0	0	0	1	0	0	8186	1299	45	2	1083	2	KDM5B	1	202702867	Nonsense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	23099255	202702867	46547754	34	17798											
KDM5B	10765	broad.mit.edu	37	chr1	202731854	202731854	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggcttttttagatcgactCttgggcttttccttctcatt	4	20	8	9	1	2	1	1	0	2	1	5	2	3	1	1	2	0	2	1	2	1	8			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:202731854C>G	ENST00000367265.3	-	7	2055	c.891G>C	c.(889-891)aaG>aaC	p.K297N	KDM5B_ENST00000367264.2_Missense_Mutation_p.K333N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	297					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TAGATCGACTCTTGGGCTTTT	0.393													34	154					0	0	0	0	G	202731854	C	G	202731854	3	3	92	1	0	0	0	0	1	0	0	0	8186	912	32	2	3827	2	KDM5B	1	202731854	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	28987	202731854	46518767	35	17799											
AVPR1B	553	broad.mit.edu	37	chr1	206225115	206225115	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagcctcatctgccatgaGatctgtaaaaacctaaaagt	15	10	6	10	0	3	1	1	1	2	1	3	2	3	1	3	0	4	1	3	0	6	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:206225115G>C	ENST00000367126.4	+	1	1140	c.675G>C	c.(673-675)gaG>gaC	p.E225D		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	225					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCTGCCATGAGATCTGTAAAA	0.607													23	79					0	0	0	0	C	206225115	G	C	206225115	3	2	92	1	0	0	0	0	1	0	0	0	1236	933	33	2	677	2	AVPR1B	1	206225115	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	3493261	206225115	43025506	36	17800											
KCNH1	3756	broad.mit.edu	37	chr1	210857055	210857055	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttgttccagtcctcactCttcccgcaagcatctttgaa	8	13	5	15	1	3	1	1	1	2	0	6	1	6	1	4	0	1	3	4	0	2	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:210857055C>G	ENST00000367007.4	-	11	2626	c.2457G>C	c.(2455-2457)aaG>aaC	p.K819N	KCNH1_ENST00000271751.4_Missense_Mutation_p.K846N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	846					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGTCCTCACTCTTCCCGCAAG	0.612													18	62					0	0	0	0	G	210857055	C	G	210857055	3	3	92	1	0	0	0	0	1	0	0	0	8084	912	32	2	435	2	KCNH1	1	210857055	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	4631940	210857055	38393566	37	17801											
C1orf227	149643	broad.mit.edu	37	chr1	213009314	213009314	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctctttggttgtggtatCagtaaaggactgataggcat	10	13	13	5	0	2	1	1	1	1	0	2	2	2	2	0	5	0	5	0	5	4	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:213009314C>G	ENST00000332912.3	-	2	285	c.178G>C	c.(178-180)Gat>Cat	p.D60H		NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN	chromosome 1 open reading frame 227	60										kidney(1)|large_intestine(1)|lung(1)	3						GTTGTGGTATCAGTAAAGGAC	0.483													30	91					0	0	0	0	G	213009314	C	G	213009314	3	3	92	1	0	0	0	0	1	0	0	0	2053	826	29	2	126	2	C1orf227	1	213009314	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	2152259	213009314	36241307	38	17802											
CENPF	1063	broad.mit.edu	37	chr1	214816003	214816003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgcagacctatgttgactCattaaaggccgaaaatttgg	12	11	10	8	1	1	2	1	1	0	1	1	3	1	2	2	2	1	3	2	2	5	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:214816003C>T	ENST00000366955.3	+	12	4490	c.4322C>T	c.(4321-4323)tCa>tTa	p.S1441L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1537	2 X 96 AA approximate tandem repeats.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TATGTTGACTCATTAAAGGCC	0.423													12	38					0	0	0	0	T	214816003	C	T	214816003	3	4	92	1	0	0	0	0	1	0	0	0	3260	838	29	2	4364	2	CENPF	1	214816003	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1806689	214816003	34434618	39	17803											
USH2A	7399	broad.mit.edu	37	chr1	216040365	216040365	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacttggtttagcccacctCacgtcgatggctgtgtggtt	5	15	11	10	2	1	0	1	0	0	0	2	1	1	0	2	3	2	3	2	3	2	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:216040365C>G	ENST00000366943.2	-	44	9215	c.8829G>C	c.(8827-8829)gtG>gtC	p.V2943V	USH2A_ENST00000307340.3_Silent_p.V2943V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2943	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGCCCACCTCACGTCGATGG	0.448										HNSCC(13;0.011)			18	47					0	0	0	0	G	216040365	C	G	216040365	2	3	92	1	0	0	0	0	0	0	0	1	17132	813	29	2		2	USH2A	1	216040365	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1224362	216040365	33210256	40	17804											
OBSCN	84033	broad.mit.edu	37	chr1	228509435	228509435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactggcctggaccgtgctGatgctggctgctacacctgt	5	11	12	13	1	1	1	1	1	0	0	1	2	1	2	3	3	4	4	3	3	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:228509435G>A	ENST00000570156.2	+	66	17838	c.17764G>A	c.(17764-17766)Gat>Aat	p.D5922N	OBSCN_ENST00000366709.4_Missense_Mutation_p.D2084N|OBSCN_ENST00000284548.11_Missense_Mutation_p.D4965N|OBSCN_ENST00000422127.1_Missense_Mutation_p.D4965N|OBSCN_ENST00000366707.4_Missense_Mutation_p.D2599N	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4965	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGACCGTGCTGATGCTGGCTG	0.602													22	76					0	0	0	0	A	228509435	G	A	228509435	3	1	92	1	0	0	0	0	1	0	0	0	10883	1290	45	2	15107	2	OBSCN	1	228509435	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	12469070	228509435	20741186	41	17805											
RYR2	6262	broad.mit.edu	37	chr1	237947379	237947379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacttttctggaattagcaGagagcgtcctgaattatttc	11	14	9	7	1	1	3	0	1	1	2	3	5	2	4	1	1	2	1	1	1	4	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:237947379G>A	ENST00000366574.2	+	90	12684	c.12367G>A	c.(12367-12369)Gag>Aag	p.E4123K	RYR2_ENST00000542537.1_Missense_Mutation_p.E4107K|RYR2_ENST00000360064.6_Missense_Mutation_p.E4129K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4123					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAATTAGCAGAGAGCGTCCT	0.512													19	24					0	0	0	0	A	237947379	G	A	237947379	3	1	92	1	0	0	0	0	1	0	0	0	13854	943	33	2	12725	2	RYR2	1	237947379	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	9437944	237947379	11303242	42	17806											
CEP170	9859	broad.mit.edu	37	chr1	243354558	243354558	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggtctctaatagttaccttCcctggggtactgtcatcaaa	9	14	8	10	0	3	0	2	0	1	0	5	0	4	0	2	3	2	2	2	3	5	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:243354558C>G	ENST00000366542.1	-	8	921	c.870G>C	c.(868-870)ggG>ggC	p.G290G	CEP170_ENST00000366544.1_Silent_p.G290G|CEP170_ENST00000366543.1_Silent_p.G290G	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	290						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TAGTTACCTTCCCTGGGGTAC	0.438													4	16					0	0	0	0	G	243354558	C	G	243354558	2	3	92	1	0	0	0	0	0	0	0	1	3279	842	30	2		2	CEP170	1	243354558	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	5407179	243354558	5896063	43	17807											
PGBD2	267002	broad.mit.edu	37	chr1	249211397	249211397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgttctgggaaacctctcCcgattcacatcatcatcttg	9	13	7	12	1	6	0	3	0	3	0	7	3	6	1	2	1	1	1	2	1	1	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:249211397C>T	ENST00000539153.1	+	4	860	c.605C>T	c.(604-606)cCc>cTc	p.P202L	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.P205L|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	205										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GAAACCTCTCCCGATTCACAT	0.398													34	120					0	0	0	0	T	249211397	C	T	249211397	3	4	92	1	0	0	0	0	1	0	0	0	11853	623	22	4	620	4	PGBD2	1	249211397	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	5856839	249211397	39224	44	17808											
RNASEH1	246243	broad.mit.edu	37	chr2	3599789	3599789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccggctccacgctcggcttCatgtgctttgcatacggctc	4	11	11	15	4	1	0	1	0	0	0	4	0	2	0	2	3	3	6	2	3	1	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:3599789C>T	ENST00000315212.3	-	3	709	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	118					RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CGCTCGGCTTCATGTGCTTTG	0.517													15	38					0	0	0	0	T	3599789	C	T	3599789	3	4	92	1	0	0	0	0	1	0	0	0	13496	826	29	2	530	2	RNASEH1	2	3599789	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08		3599789	239599584	45	17809											
GRHL1	29841	broad.mit.edu	37	chr2	10136059	10136059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagatgactttgctgtccctCcttctaccaagctggcccgg	7	11	9	14	1	1	2	0	1	1	1	3	2	3	2	4	2	3	2	4	2	3	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:10136059C>T	ENST00000324907.9	+	13	1688	c.1552C>T	c.(1552-1554)Cct>Tct	p.P518S	GRHL1_ENST00000405379.2_Missense_Mutation_p.P518S|GRHL1_ENST00000324883.5_Missense_Mutation_p.P329S|GRHL1_ENST00000480736.1_5'UTR	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	518					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TGCTGTCCCTCCTTCTACCAA	0.458													42	92					0	0	0	0	T	10136059	C	T	10136059	3	4	92	1	0	0	0	0	1	0	0	0	6813	855	30	2	1602	2	GRHL1	2	10136059	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	6536270	10136059	233063314	46	17810											
MFSD2B	388931	broad.mit.edu	37	chr2	24247130	24247130	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggacgcctccagccggctGagccttcggaggtaagcccc	6	5	14	16	4	0	1	0	1	0	0	2	3	1	3	6	4	3	2	6	4	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:24247130G>T	ENST00000338315.4	+	13	1479	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L	MFSD2B_ENST00000406420.3_Silent_p.L493L			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	493					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCAGCCGGCTGAGCCTTCGGA	0.647													7	1					0.000157383	0.0001631	1	0	T	24247130	G	T	24247130	2	4	92	1	0	0	0	0	0	0	0	1	9600	1277	45	2		2	MFSD2B	2	24247130	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	14111071	24247130	218952243	47	17811											
SLC30A6	55676	broad.mit.edu	37	chr2	32445600	32445600	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgaacccagttattcttCtaaacacacaaacaaggcct	15	10	5	11	0	2	1	0	1	2	0	2	1	2	1	2	1	3	1	2	1	6	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:32445600C>G	ENST00000282587.5	+	14	1241	c.1204C>G	c.(1204-1206)Cta>Gta	p.L402V	SLC30A6_ENST00000538303.1_Missense_Mutation_p.L373V|SLC30A6_ENST00000435660.1_Missense_Mutation_p.L379V|SLC30A6_ENST00000406369.1_Missense_Mutation_p.L328V|SLC30A6_ENST00000379343.2_Missense_Mutation_p.L442V|SLC30A6_ENST00000357055.3_Missense_Mutation_p.L205V	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	402						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGTTATTCTTCTAAACACACA	0.418													82	24					0	0	0	0	G	32445600	C	G	32445600	3	3	92	1	0	0	0	0	1	0	0	0	14647	912	32	2	1258	2	SLC30A6	2	32445600	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	8198470	32445600	210753773	48	17812											
BIRC6	57448	broad.mit.edu	37	chr2	32688441	32688441	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagcagcttttgaagcttCagcaacaggttggagactat	12	10	11	8	0	1	2	1	1	0	1	1	3	1	2	0	2	6	6	0	2	3	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:32688441C>T	ENST00000421745.2	+	24	5067	c.4933C>T	c.(4933-4935)Cag>Tag	p.Q1645*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1645					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTGAAGCTTCAGCAACAGGT	0.423													5	18					0	0	0	0	T	32688441	C	T	32688441	4	4	92	1	0	0	0	0	0	1	0	0	1443	827	29	2	5027	2	BIRC6	2	32688441	Nonsense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	242841	32688441	210510932	49	17813											
PREPL	9581	broad.mit.edu	37	chr2	44565513	44565513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagagaccgaactgaatcatCagccagaccaatcacattaa	17	7	6	11	1	3	3	3	1	0	2	3	5	3	3	3	0	2	0	3	0	5	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:44565513C>T	ENST00000541738.1	-	7	1251	c.865G>A	c.(865-867)Gat>Aat	p.D289N	PREPL_ENST00000378520.3_Missense_Mutation_p.D378N|PREPL_ENST00000409272.1_Missense_Mutation_p.D378N|PREPL_ENST00000260648.6_Missense_Mutation_p.D378N|PREPL_ENST00000409936.1_Missense_Mutation_p.D378N|PREPL_ENST00000409411.1_Missense_Mutation_p.D289N|PREPL_ENST00000409957.1_Missense_Mutation_p.D289N|PREPL_ENST00000378511.3_Intron|PREPL_ENST00000410081.1_Missense_Mutation_p.D378N	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	378					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACTGAATCATCAGCCAGACCA	0.328													19	9					0	0	0	0	T	44565513	C	T	44565513	3	4	92	1	0	0	0	0	1	0	0	0	12555	826	29	2	1083	2	PREPL	2	44565513	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	11877072	44565513	198633860	50	17814											
HK2	3099	broad.mit.edu	37	chr2	75115157	75115157	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagacaaggggcatctttGaaaccaagttcttgtctcag	12	11	9	9	0	4	2	2	1	3	1	5	2	4	2	1	2	1	2	1	2	4	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:75115157G>C	ENST00000290573.2	+	16	2947	c.2347G>C	c.(2347-2349)Gaa>Caa	p.E783Q	HK2_ENST00000409174.1_Missense_Mutation_p.E755Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	783	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GGGCATCTTTGAAACCAAGTT	0.512													17	58					0	0	0	0	C	75115157	G	C	75115157	3	2	92	1	0	0	0	0	1	0	0	0	7241	1291	45	2	2409	2	HK2	2	75115157	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	30549644	75115157	168084216	51	17815											
NCK2	8440	broad.mit.edu	37	chr2	106498397	106498397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcgtccagcgggcgcttCgcgggcagagagtggtacta	6	7	15	13	5	0	1	0	0	0	1	3	2	1	1	2	3	2	3	2	3	2	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:106498397C>T	ENST00000233154.4	+	4	1282	c.840C>T	c.(838-840)ttC>ttT	p.F280F	NCK2_ENST00000393349.2_Silent_p.F280F|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	280					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GCGGGCGCTTCGCGGGCAGAG	0.672													10	38					0	0	0	0	T	106498397	C	T	106498397	2	4	92	1	0	0	0	0	0	0	0	1	10290	883	31	1		1	NCK2	2	106498397	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	31383240	106498397	136700976	52	17816											
MYO7B	4648	broad.mit.edu	37	chr2	128354096	128354096	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctagacagagcggcgctCagcatccagaaagtccttcg	10	7	12	12	3	1	3	1	0	0	3	4	3	3	3	2	1	3	3	2	1	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:128354096C>T	ENST00000389524.4	+	19	2357	c.2304C>T	c.(2302-2304)ctC>ctT	p.L768L	MYO7B_ENST00000409816.2_Silent_p.L768L|MYO7B_ENST00000428314.1_Silent_p.L768L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	768	IQ 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAGCGGCGCTCAGCATCCAGA	0.627													3	12					0	0	0	0	T	128354096	C	T	128354096	2	4	92	1	0	0	0	0	0	0	0	1	10153	813	29	2		2	MYO7B	2	128354096	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	21855699	128354096	114845277	53	17817											
LRP1B	53353	broad.mit.edu	37	chr2	141771238	141771238	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaaatggaaccattcataTaatcagtccagaacacataa	20	8	5	8	0	2	1	2	0	0	1	3	3	3	2	2	1	2	0	2	1	7	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:141771238T>C	ENST00000389484.3	-	14	3238	c.2267A>G	c.(2266-2268)tAt>tGt	p.Y756C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	756					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCATTCATATAATCAGTCCA	0.388										TSP Lung(27;0.18)			45	52					0	0	0	0	C	141771238	T	C	141771238	3	2	92	1	0	0	0	0	1	0	0	0	9019	1406	49	5	11844	5	LRP1B	2	141771238	Missense_Mutation	SNP	T	TCGA-CN-6011-01A-11D-1683-08	13417142	141771238	101428135	54	17818											
DPP4	1803	broad.mit.edu	37	chr2	162865118	162865118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacggctattccacacttGaacacgccacttcccgatcc	9	8	6	18	3	0	1	0	1	0	0	3	2	3	1	5	1	1	1	5	1	2	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:162865118G>C	ENST00000360534.3	-	22	2501	c.1941C>G	c.(1939-1941)ttC>ttG	p.F647L	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	647					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TTCCACACTTGAACACGCCAC	0.468													16	48					0	0	0	0	C	162865118	G	C	162865118	3	2	92	1	0	0	0	0	1	0	0	0	4765	1281	45	2	379	2	DPP4	2	162865118	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	21093880	162865118	80334255	55	17819											
IFIH1	64135	broad.mit.edu	37	chr2	163128753	163128753	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccttatgagcatactcctCtggtttcatattttgaacac	10	16	5	10	0	2	2	1	2	1	0	3	2	3	2	2	1	4	2	2	1	5	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:163128753C>G	ENST00000263642.2	-	13	2994	c.2599G>C	c.(2599-2601)Gag>Cag	p.E867Q		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	867	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GCATACTCCTCTGGTTTCATA	0.378													6	19					0	0	0	0	G	163128753	C	G	163128753	3	3	92	1	0	0	0	0	1	0	0	0	7573	922	32	2	494	2	IFIH1	2	163128753	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	263635	163128753	80070620	56	17820											
IFIH1	64135	broad.mit.edu	37	chr2	163144671	163144671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagaactataacttttcCaggctcagatgcttttttct	11	15	6	9	0	2	2	1	0	1	2	3	3	3	2	1	1	3	2	1	1	4	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:163144671C>T	ENST00000263642.2	-	5	1464	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	357	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATAACTTTTCCAGGCTCAGAT	0.358													22	85					0	0	0	0	T	163144671	C	T	163144671	3	4	92	1	0	0	0	0	1	0	0	0	7573	603	21	4	2056	4	IFIH1	2	163144671	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	15918	163144671	80054702	57	17821											
IFIH1	64135	broad.mit.edu	37	chr2	163144765	163144765	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtagggaggcagatgatGatattcttcccttccaaggc	9	11	11	10	0	1	3	0	2	1	1	3	4	3	4	3	3	0	2	3	3	3	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:163144765G>A	ENST00000263642.2	-	5	1370	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	325	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GGCAGATGATGATATTCTTCC	0.493													27	66					0	0	0	0	A	163144765	G	A	163144765	2	1	92	1	0	0	0	0	0	0	0	1	7573	1280	45	2		2	IFIH1	2	163144765	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	94	163144765	80054608	58	17822											
SCN3A	6328	broad.mit.edu	37	chr2	165984368	165984368	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaagctctttgcttatttCaattccagtattattggaca	11	18	5	7	0	2	0	1	0	1	0	3	1	3	1	1	1	2	3	1	1	5	8			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:165984368C>G	ENST00000360093.3	-	18	3657	c.3166G>C	c.(3166-3168)Gaa>Caa	p.E1056Q	SCN3A_ENST00000283254.7_Missense_Mutation_p.E1056Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.E1007Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1056						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTGCTTATTTCAATTCCAGTA	0.373													16	58					0	0	0	0	G	165984368	C	G	165984368	3	3	92	1	0	0	0	0	1	0	0	0	14005	835	29	2	2880	2	SCN3A	2	165984368	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	2839603	165984368	77215005	59	17823											
SCN1A	6323	broad.mit.edu	37	chr2	166901607	166901607	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcggttcccttcaatggaGaagcgaaaacctttcctcct	11	11	7	12	2	1	1	1	0	0	1	5	3	4	1	4	2	2	1	4	2	5	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:166901607G>A	ENST00000423058.2	-	10	1625	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F536F|SCN1A_ENST00000303395.4_Silent_p.F536F|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F536F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	536						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTTCAATGGAGAAGCGAAAAC	0.428													13	104					0	0	0	0	A	166901607	G	A	166901607	2	1	92	1	0	0	0	0	0	0	0	1	14001	933	33	2		2	SCN1A	2	166901607	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	917239	166901607	76297766	60	17824											
XIRP2	129446	broad.mit.edu	37	chr2	168107923	168107923	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagatggttcagggaatttGagcatggcccagtttctgaa	11	11	12	7	0	2	3	1	2	1	1	2	4	2	4	1	3	1	3	1	3	2	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:168107923G>C	ENST00000409195.1	+	9	10110	c.10021G>C	c.(10021-10023)Gag>Cag	p.E3341Q	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3341Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3119Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3166					actin cytoskeleton organization	cell junction	actin binding	p.E3341Q(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGGGAATTTGAGCATGGCCC	0.393													19	67					0	0	0	0	C	168107923	G	C	168107923	3	2	92	1	0	0	0	0	1	0	0	0	17526	1291	45	2	10051	2	XIRP2	2	168107923	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1206316	168107923	75091450	61	17825											
TLK1	9874	broad.mit.edu	37	chr2	171854298	171854298	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggaaatctttggtggcTcttttccaactacaaaacac	11	14	7	9	0	2	0	0	0	2	0	3	1	3	1	1	3	3	2	1	3	5	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:171854298T>C	ENST00000442919.2	-	19	2411	c.1796A>G	c.(1795-1797)gAg>gGg	p.E599G	TLK1_ENST00000431350.2_Missense_Mutation_p.E647G|TLK1_ENST00000434911.2_Missense_Mutation_p.E551G|TLK1_ENST00000521943.1_Missense_Mutation_p.E599G|TLK1_ENST00000360843.3_Missense_Mutation_p.E668G	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	647	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTTTGGTGGCTCTTTTCCAAC	0.373													94	94					0	0	0	0	C	171854298	T	C	171854298	3	2	92	1	0	0	0	0	1	0	0	0	16037	1551	54	5	372	5	TLK1	2	171854298	Missense_Mutation	SNP	T	TCGA-CN-6011-01A-11D-1683-08	3746375	171854298	71345075	62	17826											
SCRN3	79634	broad.mit.edu	37	chr2	175264800	175264800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagagaagaagtttgtgatGaagaagcactattaggaatg	17	9	13	2	0	0	5	0	2	0	3	0	8	0	6	0	1	1	2	0	1	8	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:175264800G>A	ENST00000272732.6	+	3	392	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	SCRN3_ENST00000409673.3_Missense_Mutation_p.E97K	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	104					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AGTTTGTGATGAAGAAGCACT	0.408													38	126					0	0	0	0	A	175264800	G	A	175264800	3	1	92	1	0	0	0	0	1	0	0	0	14027	1291	45	2	316	2	SCRN3	2	175264800	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	3410502	175264800	67934573	63	17827											
CHN1	1123	broad.mit.edu	37	chr2	175666502	175666502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcagtagtttcagtgcttCatgaagggtttccaattgct	8	15	11	7	0	2	1	2	1	0	0	3	1	3	1	1	2	2	6	1	2	3	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:175666502C>T	ENST00000409900.3	-	12	1454	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Missense_Mutation_p.E355K|CHN1_ENST00000409597.1_Missense_Mutation_p.E197K|CHN1_ENST00000295497.7_Missense_Mutation_p.E256K	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	381	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TTCAGTGCTTCATGAAGGGTT	0.408			T	TAF15	extraskeletal myxoid chondrosarcoma								30	107					0	0	0	0	T	175666502	C	T	175666502	3	4	92	1	0	0	0	0	1	0	0	0	3391	835	29	2	246	2	CHN1	2	175666502	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	401702	175666502	67532871	64	17828											
TTN	7273	broad.mit.edu	37	chr2	179599449	179599449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaacctttgataactatttCagtactgcagctatcactgc	12	13	5	11	0	2	1	2	1	0	0	2	1	2	1	1	0	6	3	1	0	5	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:179599449C>T	ENST00000589042.1	-	51	15426	c.15202G>A	c.(15202-15204)Gaa>Aaa	p.E5068K	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E4751K|TTN_ENST00000342992.6_Missense_Mutation_p.E3824K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4751	Ig-like 31.						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)			ATAACTATTTCAGTACTGCAG	0.363													19	80					0	0	0	0	T	179599449	C	T	179599449	3	4	92	1	0	0	0	0	1	0	0	0	16831	835	29	2	89575	2	TTN	2	179599449	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	3932947	179599449	63599924	65	17829											
TTN	7273	broad.mit.edu	37	chr2	179640236	179640236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagatccggtcagaccgttCaattttgacaccatttttgt	9	15	8	9	2	2	3	2	1	0	2	3	3	3	3	3	1	0	2	3	1	2	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:179640236C>T	ENST00000589042.1	-	28	6579	c.6355G>A	c.(6355-6357)Gaa>Aaa	p.E2119K	TTN_ENST00000342175.6_Missense_Mutation_p.E2073K|TTN_ENST00000591111.1_Missense_Mutation_p.E2119K|TTN_ENST00000342992.6_Missense_Mutation_p.E2119K|TTN_ENST00000460472.2_Missense_Mutation_p.E2073K|TTN_ENST00000360870.5_Missense_Mutation_p.E2119K|TTN_ENST00000359218.5_Missense_Mutation_p.E2073K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1882	Ig-like 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)			TCAGACCGTTCAATTTTGACA	0.493													9	22					0	0	0	0	T	179640236	C	T	179640236	3	4	92	1	0	0	0	0	1	0	0	0	16831	835	29	2	104973	2	TTN	2	179640236	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	40787	179640236	63559137	66	17830											
CERKL	375298	broad.mit.edu	37	chr2	182468711	182468711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taataaagtaccacttctctGctgtttaacagaacaacgcc	14	11	5	11	1	1	1	0	0	1	1	2	1	1	1	2	0	5	3	2	0	7	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:182468711G>T	ENST00000410087.3	-	2	434	c.334C>A	c.(334-336)Cag>Aag	p.Q112K	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.Q112K|CERKL_ENST00000374969.2_Missense_Mutation_p.Q112K|CERKL_ENST00000339098.5_Missense_Mutation_p.Q112K|CERKL_ENST00000374970.2_Missense_Mutation_p.Q112K	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	112					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CCACTTCTCTGCTGTTTAACA	0.318													17	11					1.5739e-10	1.68508e-10	1	0	T	182468711	G	T	182468711	3	4	92	1	0	0	0	0	1	0	0	0	3297	1328	46	4	1394	4	CERKL	2	182468711	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2828475	182468711	60730662	67	17831											
SSFA2	6744	broad.mit.edu	37	chr2	182767020	182767020	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaggaatctggtattgtaGaatccaaattagatagtgat	14	13	11	3	0	1	4	0	2	1	2	2	5	2	5	1	2	0	2	1	2	7	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:182767020G>C	ENST00000431877.2	+	8	1419	c.1240G>C	c.(1240-1242)Gaa>Caa	p.E414Q	SSFA2_ENST00000409001.1_Missense_Mutation_p.E414Q|SSFA2_ENST00000320370.7_Missense_Mutation_p.E414Q|SSFA2_ENST00000428267.2_Missense_Mutation_p.E261Q	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	414						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGGTATTGTAGAATCCAAATT	0.368													13	50					0	0	0	0	C	182767020	G	C	182767020	3	2	92	1	0	0	0	0	1	0	0	0	15273	943	33	2	1270	2	SSFA2	2	182767020	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	298309	182767020	60432353	68	17832											
DNAH7	56171	broad.mit.edu	37	chr2	196673414	196673414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttaaaacataccaaactatCatatactttcttccatccat	15	14	1	11	0	2	0	1	0	1	0	4	0	4	0	3	0	4	1	3	0	7	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:196673414C>T	ENST00000312428.6	-	53	10175	c.10075G>A	c.(10075-10077)Gat>Aat	p.D3359N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3359					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCAAACTATCATATACTTTC	0.323													21	94					0	0	0	0	T	196673414	C	T	196673414	3	4	92	1	0	0	0	0	1	0	0	0	4642	826	29	2	2051	2	DNAH7	2	196673414	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	13906394	196673414	46525959	69	17833											
DNAH7	56171	broad.mit.edu	37	chr2	196729233	196729233	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgcacatttccttaagatCacttttaaatcttcatgcca	11	15	3	12	1	3	1	2	0	1	1	5	1	5	1	3	0	1	1	3	0	3	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:196729233C>G	ENST00000312428.6	-	41	7246	c.7146G>C	c.(7144-7146)gtG>gtC	p.V2382V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2382	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCTTAAGATCACTTTTAAAT	0.398													16	71					0	0	0	0	G	196729233	C	G	196729233	2	3	92	1	0	0	0	0	0	0	0	1	4642	813	29	2		2	DNAH7	2	196729233	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	55819	196729233	46470140	70	17834											
SF3B1	23451	broad.mit.edu	37	chr2	198265441	198265441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataatagttttcattacctCtgtagtctgttcttggaaag	10	17	7	7	0	4	0	1	0	3	0	4	1	4	1	1	1	1	3	1	1	5	8			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:198265441C>T	ENST00000335508.5	-	18	2807	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	906					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTCATTACCTCTGTAGTCTGT	0.308			Mis		myelodysplastic syndrome								16	77					0	0	0	0	T	198265441	C	T	198265441	3	4	92	1	0	0	0	0	1	0	0	0	14236	922	32	2	1230	2	SF3B1	2	198265441	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1536208	198265441	44933932	71	17835											
CTLA4	1493	broad.mit.edu	37	chr2	204732684	204732684	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatggcttgccttggatttCagcggcacaaggctcagctg	7	10	12	12	1	2	0	2	0	0	0	2	1	2	1	2	4	3	4	2	4	1	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:204732684C>T	ENST00000302823.3	+	1	176	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	CTLA4_ENST00000472206.1_Nonsense_Mutation_p.Q7*|CTLA4_ENST00000295854.6_Nonsense_Mutation_p.Q7*|CTLA4_ENST00000487393.1_3'UTR	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	7					B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	CCTTGGATTTCAGCGGCACAA	0.498													14	18					0	0	0	0	T	204732684	C	T	204732684	4	4	92	1	0	0	0	0	0	1	0	0	4043	827	29	2	21	2	CTLA4	2	204732684	Nonsense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	6467243	204732684	38466689	72	17836											
COL4A3	1285	broad.mit.edu	37	chr2	228159768	228159768	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggtccagccggagaaaaGggagaaacgggtacaacttg	13	5	14	9	2	0	2	0	0	0	2	1	4	1	2	3	4	4	1	3	4	5	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:228159768G>A	ENST00000396578.3	+	40	3669	c.3507G>A	c.(3505-3507)aaG>aaA	p.K1169K	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1169	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCGGAGAAAAGGGAGAAACGG	0.408													54	25					0	0	0	0	A	228159768	G	A	228159768	2	1	92	1	0	0	0	0	0	0	0	1	3721	991	35	4		4	COL4A3	2	228159768	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	23427084	228159768	15039605	73	17837											
TRIP12	9320	broad.mit.edu	37	chr2	230725127	230725127	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacatgaagatttaccttttAgaaaggtgtccccttgacag	13	12	8	8	0	0	4	0	2	0	2	1	4	1	4	3	1	2	0	3	1	5	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:230725127A>T	ENST00000389044.4	-	3	387	c.219T>A	c.(217-219)tcT>tcA	p.S73S	TRIP12_ENST00000283943.5_Intron|TRIP12_ENST00000409677.1_Silent_p.S73S|TRIP12_ENST00000543084.1_Silent_p.S73S|TRIP12_ENST00000389045.3_Intron			Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	34					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTACCTTTTAGAAAGGTGTC	0.348													60	36					0	0	0	0	T	230725127	A	T	230725127	2	4	92	1	0	0	0	0	0	0	0	1	16651	435	15	5		5	TRIP12	2	230725127	Silent	SNP	A	TCGA-CN-6011-01A-11D-1683-08	2565359	230725127	12474246	74	17838											
SP100	6672	broad.mit.edu	37	chr2	231368918	231368918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtccaagaattcccaaaGatgaaaatattaattttaaa	19	11	5	6	0	0	3	0	1	0	2	2	3	2	3	2	1	0	0	2	1	9	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:231368918G>C	ENST00000264052.5	+	21	2138	c.1783G>C	c.(1783-1785)Gat>Cat	p.D595H	SP100_ENST00000340126.4_Missense_Mutation_p.D595H|SP100_ENST00000409112.1_Missense_Mutation_p.D595H	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	595	SAND.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AATTCCCAAAGATGAAAATAT	0.403													20	50					0	0	0	0	C	231368918	G	C	231368918	3	2	92	1	0	0	0	0	1	0	0	0	15048	942	33	2	1865	2	SP100	2	231368918	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	643791	231368918	11830455	75	17839											
ARMC9	80210	broad.mit.edu	37	chr2	232143099	232143099	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatttgtttcccatagggaaGaacatgtgtgccaaggtggc	10	11	13	7	0	0	1	0	0	0	1	1	3	1	2	2	3	2	1	2	3	4	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:232143099G>A	ENST00000349938.4	+	16	1673	c.1479G>A	c.(1477-1479)aaG>aaA	p.K493K	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	493							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CCATAGGGAAGAACATGTGTG	0.483													27	82					0	0	0	0	A	232143099	G	A	232143099	2	1	92	1	0	0	0	0	0	0	0	1	962	933	33	2		2	ARMC9	2	232143099	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	774181	232143099	11056274	76	17840											
HDAC4	9759	broad.mit.edu	37	chr2	239990186	239990186	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatgcagaaccacttacaTctggcggagaggttgtagcc	11	9	11	10	1	1	2	0	0	1	2	1	3	1	2	2	3	4	3	2	3	4	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:239990186T>C	ENST00000345617.3	-	23	3644	c.2854_splice	c.e23+1	p.R951_splice	HDAC4_ENST00000543185.1_Splice_Site_p.R535_splice	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	951	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACCACTTACATCTGGCGGAGA	0.572													4	22					0	0	0	0	C	239990186	T	C	239990186	5	2	92	1	0	0	0	0	0	0	1	0	7059	1449	50	5	421	5	HDAC4	2	239990186	Splice_Site	SNP	T	TCGA-CN-6011-01A-11D-1683-08	7847087	239990186	3209187	77	17841											
CNTN4	152330	broad.mit.edu	37	chr3	3067795	3067795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taactctccagatccaacaaGggtaatggtacccccttcca	12	9	6	14	0	1	1	0	0	1	1	4	1	3	1	5	2	3	2	5	2	5	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:3067795G>A	ENST00000397461.1	+	14	1880	c.1496G>A	c.(1495-1497)aGg>aAg	p.R499K	CNTN4_ENST00000358480.3_Missense_Mutation_p.R280K|CNTN4_ENST00000397459.2_Missense_Mutation_p.R171K|CNTN4_ENST00000427331.1_Missense_Mutation_p.R499K|CNTN4_ENST00000448906.2_Missense_Mutation_p.R171K|CNTN4_ENST00000418658.1_Missense_Mutation_p.R499K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	499	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GATCCAACAAGGGTAATGGTA	0.418													5	11					0	0	0	0	A	3067795	G	A	3067795	3	1	92	1	0	0	0	0	1	0	0	0	3673	1000	35	4	1542	4	CNTN4	3	3067795	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08		3067795	194954635	78	17842											
CRELD1	78987	broad.mit.edu	37	chr3	9979744	9979744	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtggctgtgctcagattcCctgaagctctgctgccccgc	5	10	11	15	1	2	2	1	1	1	1	3	2	3	2	3	1	4	4	3	1	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:9979744C>T	ENST00000383811.3	+	4	1013	c.414C>T	c.(412-414)tcC>tcT	p.S138S	CRELD1_ENST00000326434.5_Silent_p.S138S|CRELD1_ENST00000452070.1_Silent_p.S138S|CRELD1_ENST00000397170.3_Silent_p.S138S	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	138					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GCTCAGATTCCCTGAAGCTCT	0.632													19	5					0	0	0	0	T	9979744	C	T	9979744	2	4	92	1	0	0	0	0	0	0	0	1	3896	610	22	4		4	CRELD1	3	9979744	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	6911949	9979744	188042686	79	17843											
BTD	686	broad.mit.edu	37	chr3	15677117	15677117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaaccctctggctctcatCagccgccaagaggccttgga	8	8	10	15	1	3	2	2	1	2	1	4	3	3	3	4	3	2	1	4	3	2	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:15677117C>T	ENST00000383778.4	+	2	529	c.171C>T	c.(169-171)atC>atT	p.I57I	BTD_ENST00000449107.1_Silent_p.I79I|BTD_ENST00000437172.1_Silent_p.I79I|BTD_ENST00000303498.5_Silent_p.I77I|BTD_ENST00000482824.1_3'UTR			P43251	BTD_HUMAN	biotinidase	77	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TGGCTCTCATCAGCCGCCAAG	0.542													30	54					0	0	0	0	T	15677117	C	T	15677117	2	4	92	1	0	0	0	0	0	0	0	1	1559	816	29	2		2	BTD	3	15677117	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	5697373	15677117	182345313	80	17844											
TOP2B	7155	broad.mit.edu	37	chr3	25666199	25666199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatgataagccgacatctCagcaacagagccagccaact	15	6	8	12	1	1	3	1	2	1	1	2	4	1	3	3	0	6	1	3	0	3	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:25666199C>T	ENST00000435706.2	-	19	2506	c.2305G>A	c.(2305-2307)Gag>Aag	p.E769K	TOP2B_ENST00000264331.4_Missense_Mutation_p.E774K			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	774					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GCCGACATCTCAGCAACAGAG	0.363													4	14					0	0	0	0	T	25666199	C	T	25666199	3	4	92	1	0	0	0	0	1	0	0	0	16461	835	29	2	2632	2	TOP2B	3	25666199	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	9989082	25666199	172356231	81	17845											
NBEAL2	23218	broad.mit.edu	37	chr3	47030591	47030591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggaacctggagaacataGaggcaggccggggccaagtg	12	3	16	10	1	0	2	0	0	0	2	0	4	0	3	4	6	2	1	4	6	4	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:47030591G>C	ENST00000450053.3	+	4	465	c.286G>C	c.(286-288)Gag>Cag	p.E96Q	NBEAL2_ENST00000292309.5_Missense_Mutation_p.E96Q|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	96							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGAGAACATAGAGGCAGGCCG	0.597													8	10					0	0	0	0	C	47030591	G	C	47030591	3	2	92	1	0	0	0	0	1	0	0	0	10259	943	33	2	300	2	NBEAL2	3	47030591	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	21364392	47030591	150991839	82	17846											
ERC2	26059	broad.mit.edu	37	chr3	55984542	55984542	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttcttttccaactgttGattgtgcttgaggttggcca	5	19	9	8	0	2	2	0	2	2	0	3	2	3	2	2	2	2	3	2	2	1	8			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:55984542G>A	ENST00000288221.6	-	13	2569	c.2314C>T	c.(2314-2316)Caa>Taa	p.Q772*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	772						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCCAACTGTTGATTGTGCTTG	0.433													14	30					0	0	0	0	A	55984542	G	A	55984542	4	1	92	1	0	0	0	0	0	1	0	0	5249	1299	45	2	579	2	ERC2	3	55984542	Nonsense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	8953951	55984542	142037888	83	17847											
CNTN3	5067	broad.mit.edu	37	chr3	74535745	74535745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attcaacttataacgatgttCcatactcatatcaatatcac	15	14	2	10	1	4	0	4	0	0	0	5	1	5	0	1	0	3	1	1	0	7	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:74535745C>T	ENST00000263665.6	-	3	247	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	74	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TAACGATGTTCCATACTCATA	0.363													16	32					0	0	0	0	T	74535745	C	T	74535745	3	4	92	1	0	0	0	0	1	0	0	0	3672	864	30	2	2946	2	CNTN3	3	74535745	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	18551203	74535745	123486685	84	17848											
LSAMP	4045	broad.mit.edu	37	chr3	115560764	115560764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgtagttgccgtagtgctCctcagtgacgttggtcaccg	5	12	14	10	3	2	1	2	1	0	0	3	1	3	1	3	2	2	5	3	2	2	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:115560764C>T	ENST00000490035.1	-	6	1346	c.847G>A	c.(847-849)Gag>Aag	p.E283K	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.E280K	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	283	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCGTAGTGCTCCTCAGTGACG	0.507													10	34					0	0	0	0	T	115560764	C	T	115560764	3	4	92	1	0	0	0	0	1	0	0	0	9112	864	30	2	177	2	LSAMP	3	115560764	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	41025019	115560764	82461666	85	17849											
SEC61A1	29927	broad.mit.edu	37	chr3	127774526	127774526	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgttcccagattcccctgtTtgggatcatgtcttcagatt	6	16	8	11	0	3	2	2	0	1	2	5	3	5	3	3	1	0	2	3	1	0	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:127774526T>A	ENST00000243253.3	+	4	336	c.152T>A	c.(151-153)tTt>tAt	p.F51Y	SEC61A1_ENST00000424880.2_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.F57Y	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	51					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						ATTCCCCTGTTTGGGATCATG	0.473													31	109					0	0	0	0	A	127774526	T	A	127774526	3	1	92	1	0	0	0	0	1	0	0	0	14087	1841	64	5	166	5	SEC61A1	3	127774526	Missense_Mutation	SNP	T	TCGA-CN-6011-01A-11D-1683-08	12213762	127774526	70247904	86	17850											
COPB2	9276	broad.mit.edu	37	chr3	139093334	139093334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacccttctaacttaccatCttctgaacctgtgataatga	12	14	4	11	0	3	3	0	3	3	0	3	3	3	3	3	0	4	0	3	0	5	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:139093334C>T	ENST00000333188.5	-	7	929	c.748G>A	c.(748-750)Gat>Aat	p.D250N	COPB2_ENST00000507777.1_Missense_Mutation_p.D221N	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	250					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						AACTTACCATCTTCTGAACCT	0.403													30	70					0	0	0	0	T	139093334	C	T	139093334	3	4	92	1	0	0	0	0	1	0	0	0	3759	913	32	2	2036	2	COPB2	3	139093334	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	11318808	139093334	58929096	87	17851											
PLSCR4	57088	broad.mit.edu	37	chr3	145918834	145918834	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacatactttccagaggctCaaaatgctgaagaacatgta	16	10	7	8	0	1	3	1	1	0	2	2	3	2	3	1	1	4	3	1	1	7	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:145918834C>G	ENST00000354952.2	-	5	625	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000493382.1_Missense_Mutation_p.E129Q|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000446574.2_Missense_Mutation_p.E129Q	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	129					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TCCAGAGGCTCAAAATGCTGA	0.318													8	39					0	0	0	0	G	145918834	C	G	145918834	3	3	92	1	0	0	0	0	1	0	0	0	12184	835	29	2	624	2	PLSCR4	3	145918834	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	6825500	145918834	52103596	88	17852											
MME	4311	broad.mit.edu	37	chr3	154834751	154834751	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgttggcactgatgataaGaattctgtgaatcatgtaat	12	16	9	4	0	2	4	1	3	1	1	2	4	2	4	0	1	0	3	0	1	4	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:154834751G>A	ENST00000460393.1	+	7	750	c.630G>A	c.(628-630)aaG>aaA	p.K210K	MME_ENST00000462745.1_Silent_p.K210K|MME_ENST00000493237.1_Silent_p.K210K|MME_ENST00000360490.2_Silent_p.K210K|MME_ENST00000492661.1_Silent_p.K210K	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	210					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CTGATGATAAGAATTCTGTGA	0.299													7	29					0	0	0	0	A	154834751	G	A	154834751	2	1	92	1	0	0	0	0	0	0	0	1	9714	933	33	2		2	MME	3	154834751	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	8915917	154834751	43187679	89	17853											
VEPH1	79674	broad.mit.edu	37	chr3	156978935	156978935	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaatccctacagatatgtGgttacttctctactttccct	10	16	4	11	0	1	1	0	0	1	1	4	1	3	1	2	1	3	1	2	1	6	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:156978935G>C	ENST00000362010.2	-	14	2797	c.2490C>G	c.(2488-2490)acC>acG	p.T830T	VEPH1_ENST00000392832.2_Silent_p.T830T|VEPH1_ENST00000543418.1_Silent_p.T785T|VEPH1_ENST00000392833.2_Silent_p.T785T|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	830						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACAGATATGTGGTTACTTCTC	0.408													14	74					0	0	0	0	C	156978935	G	C	156978935	2	2	92	1	0	0	0	0	0	0	0	1	17250	1335	47	4		4	VEPH1	3	156978935	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2144184	156978935	41043495	90	17854											
PLD1	5337	broad.mit.edu	37	chr3	171323140	171323140	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgaaacccacacctccttGaagaatttgtcactcactgg	11	11	7	12	0	2	3	2	2	0	1	3	3	3	3	3	1	1	1	3	1	3	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:171323140G>C	ENST00000356327.5	-	25	2905	c.2835C>G	c.(2833-2835)ttC>ttG	p.F945L	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.F983L	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	983					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACACCTCCTTGAAGAATTTGT	0.443													33	95					0	0	0	0	C	171323140	G	C	171323140	3	2	92	1	0	0	0	0	1	0	0	0	12117	1281	45	2	283	2	PLD1	3	171323140	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	14344205	171323140	26699290	91	17855											
MCF2L2	23101	broad.mit.edu	37	chr3	182923663	182923663	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtcagcaggggtaacctaCctttgatattattttgttgt	10	16	9	6	0	1	1	1	1	0	0	1	1	1	1	2	2	3	3	2	2	5	8			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:182923663C>T	ENST00000328913.3	-	25	3182		c.e25+1		MCF2L2_ENST00000473233.1_Splice_Site|MCF2L2_ENST00000468976.1_Splice_Site	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2						regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGGTAACCTACCTTTGATATT	0.378													3	21					0	0	0	0	T	182923663	C	T	182923663	5	4	92	1	0	0	0	0	0	0	1	0	9449	521	18	4	483	4	MCF2L2	3	182923663	Splice_Site	SNP	C	TCGA-CN-6011-01A-11D-1683-08	11600523	182923663	15098767	92	17856											
MAP3K13	9175	broad.mit.edu	37	chr3	185183579	185183579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatgagcggaagcttgagcGggcgaataatttatacatgg	12	10	13	6	3	0	2	0	2	0	0	0	4	0	3	0	3	4	1	0	3	6	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:185183579G>A	ENST00000265026.3	+	9	1767	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	MAP3K13_ENST00000535426.1_Missense_Mutation_p.R334Q|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R271Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R334Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R478Q	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	478					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.R478L(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAGCTTGAGCGGGCGAATAAT	0.473													19	87					0	0	0	0	A	185183579	G	A	185183579	3	1	92	1	0	0	0	0	1	0	0	0	9316	1116	39	1	1463	1	MAP3K13	3	185183579	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2259916	185183579	12838851	93	17857											
ACAP2	23527	broad.mit.edu	37	chr3	195015475	195015475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atataaactattggctgacaCcgtggagggtaaagattctc	13	11	10	7	1	1	2	0	1	1	1	2	3	1	3	1	3	1	2	1	3	6	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:195015475C>A	ENST00000326793.6	-	18	1968	c.1738G>T	c.(1738-1740)Gtg>Ttg	p.V580L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	580					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTGGCTGACACCGTGGAGGGT	0.363													8	54					2.17888e-05	2.26772e-05	1	0	A	195015475	C	A	195015475	3	1	92	1	0	0	0	0	1	0	0	0	119	507	18	4	622	4	ACAP2	3	195015475	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	9831896	195015475	3006955	94	17858											
LRCH3	84859	broad.mit.edu	37	chr3	197553768	197553768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctggcggagttgcctttGatacggttagacttctcatg	7	13	13	8	2	1	2	1	1	1	1	2	4	1	3	1	3	3	3	1	3	2	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:197553768G>C	ENST00000438796.2	+	5	704	c.660G>C	c.(658-660)ttG>ttC	p.L220F	LRCH3_ENST00000414675.2_Missense_Mutation_p.L220F|LRCH3_ENST00000441090.2_Missense_Mutation_p.L94F|LRCH3_ENST00000334859.4_Missense_Mutation_p.L220F|LRCH3_ENST00000425562.2_Missense_Mutation_p.L220F			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	220						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGTTGCCTTTGATACGGTTAG	0.383													20	93					0	0	0	0	C	197553768	G	C	197553768	3	2	92	1	0	0	0	0	1	0	0	0	8998	1281	45	2	678	2	LRCH3	3	197553768	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2538293	197553768	468662	95	17859											
RGS12	6002	broad.mit.edu	37	chr4	3318834	3318834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggacgaccggcgatttttcGggttggttaccatgcagacg	7	10	14	10	6	0	1	0	0	0	1	1	4	0	2	2	4	2	3	2	4	1	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:3318834G>T	ENST00000336727.3	+	2	1841	c.937G>T	c.(937-939)Ggg>Tgg	p.G313W	RGS12_ENST00000344733.5_Missense_Mutation_p.G313W|RGS12_ENST00000382788.3_Missense_Mutation_p.G313W|RGS12_ENST00000543385.1_Missense_Mutation_p.G313W	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	313	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGATTTTTCGGGTTGGTTAC	0.642													3	77					0.115264	0.116708	1	0	T	3318834	G	T	3318834	3	4	92	1	0	0	0	0	1	0	0	0	13378	1116	39	3	939	3	RGS12	4	3318834	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08		3318834	187835442	96	17860											
GSX2	170825	broad.mit.edu	37	chr4	54967925	54967925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaggtgaaaatctggtttCagaaccgccgagtgaagcac	13	7	12	9	2	2	3	1	2	1	1	2	4	2	3	2	2	3	3	2	2	4	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:54967925C>G	ENST00000326902.2	+	2	1065	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	251						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AATCTGGTTTCAGAACCGCCG	0.567													5	86					0	0	0	0	G	54967925	C	G	54967925	3	3	92	1	0	0	0	0	1	0	0	0	6900	827	29	2	757	2	GSX2	4	54967925	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	51649091	54967925	136186351	97	17861											
LPHN3	23284	broad.mit.edu	37	chr4	62897307	62897307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaatgtttatatttattttCcattgtgtcctacagaagaa	12	17	7	5	0	0	2	0	0	0	2	2	3	2	3	2	1	1	1	2	1	7	9			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:62897307C>T	ENST00000512091.1	+	22	4113	c.3366C>T	c.(3364-3366)ttC>ttT	p.F1122F	LPHN3_ENST00000508946.1_Silent_p.F1122F|LPHN3_ENST00000514996.1_Silent_p.F1113F|LPHN3_ENST00000507625.1_Silent_p.F1181F|LPHN3_ENST00000514591.1_Silent_p.F1122F|LPHN3_ENST00000514157.1_Silent_p.F1113F|LPHN3_ENST00000506746.1_Silent_p.F1181F|LPHN3_ENST00000506720.1_Silent_p.F1190F|LPHN3_ENST00000506700.1_Silent_p.F1113F|LPHN3_ENST00000504896.1_Silent_p.F1122F|LPHN3_ENST00000507164.1_Silent_p.F1181F|LPHN3_ENST00000511324.1_Silent_p.F1181F|LPHN3_ENST00000545650.1_Silent_p.F1122F|LPHN3_ENST00000509896.1_Silent_p.F1190F|LPHN3_ENST00000508693.1_Silent_p.F1190F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1100					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TATTTATTTTCCATTGTGTCC	0.333													26	12					0	0	0	0	T	62897307	C	T	62897307	2	4	92	1	0	0	0	0	0	0	0	1	8981	854	30	2		2	LPHN3	4	62897307	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	7929382	62897307	128256969	98	17862											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69327605	69327605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttatcggcctcgtcatcttCatatccctgattgtcctggc	5	15	8	13	2	3	1	2	1	1	0	7	1	5	1	3	2	0	1	3	2	2	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:69327605C>T	ENST00000305363.4	+	2	142	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	26					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TCGTCATCTTCATATCCCTGA	0.423													41	249					0	0	0	0	T	69327605	C	T	69327605	2	4	92	1	0	0	0	0	0	0	0	1	16336	825	29	2		2	TMPRSS11E	4	69327605	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	6430298	69327605	121826671	99	17863											
GRSF1	2926	broad.mit.edu	37	chr4	71701944	71701944	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctcgaatgagaaagaCatcatccacttcctcttcta	12	12	6	11	1	3	3	1	2	2	2	6	5	5	3	2	0	1	1	2	0	3	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:71701944C>A	ENST00000254799.6	-	2	562	c.445G>T	c.(445-447)Gtc>Ttc	p.V149F	GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000545193.1_Missense_Mutation_p.V31F	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	149	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			ATGAGAAAGACATCATCCACT	0.408													3	45					0.115264	0.116708	1	0	A	71701944	C	A	71701944	3	1	92	1	0	0	0	0	1	0	0	0	6859	478	17	4	1029	4	GRSF1	4	71701944	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	2374339	71701944	119452332	100	17864											
CDKL2	8999	broad.mit.edu	37	chr4	76551024	76551024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttagtaacttgatttctCgcattgcaatctttttaacc	9	18	4	10	1	2	1	0	1	2	0	3	1	2	1	2	0	3	3	2	0	4	9			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:76551024C>T	ENST00000429927.2	-	2	852	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	CDKL2_ENST00000307465.4_Missense_Mutation_p.R50Q	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	50	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTTGATTTCTCGCATTGCAAT	0.299													13	35					0	0	0	0	T	76551024	C	T	76551024	3	4	92	1	0	0	0	0	1	0	0	0	3183	884	31	1	1372	1	CDKL2	4	76551024	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	4849080	76551024	114603252	101	17865											
SCD5	79966	broad.mit.edu	37	chr4	83719652	83719652	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttcttccttggcgtcgcaGaaagggatcttccccgcgtc	6	12	10	13	4	2	1	0	0	2	1	6	2	4	2	3	2	0	1	3	2	1	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:83719652G>C	ENST00000319540.4	-	1	358	c.39C>G	c.(37-39)ttC>ttG	p.F13L	SCD5_ENST00000273908.4_Missense_Mutation_p.F13L|SCD5_ENST00000282709.4_Missense_Mutation_p.F13L	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	13					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGGCGTCGCAGAAAGGGATCT	0.736													6	6					0	0	0	0	C	83719652	G	C	83719652	3	2	92	1	0	0	0	0	1	0	0	0	13973	933	33	2	1179	2	SCD5	4	83719652	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	7168628	83719652	107434624	102	17866											
MMRN1	22915	broad.mit.edu	37	chr4	90857798	90857798	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttgttgtatagatcgatcGttgcctggtagtctggcaaa	9	14	11	7	2	1	1	0	0	1	1	3	2	1	1	1	2	1	5	1	2	4	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:90857798G>A	ENST00000394980.1	+	7	3286	c.2967G>A	c.(2965-2967)tcG>tcA	p.S989S	MMRN1_ENST00000508372.1_Silent_p.S731S|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Silent_p.S989S			Q13201	MMRN1_HUMAN	multimerin 1	989					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TAGATCGATCGTTGCCTGGTA	0.353													36	16					0	0	0	0	A	90857798	G	A	90857798	2	1	92	1	0	0	0	0	0	0	0	1	9740	1132	40	1		1	MMRN1	4	90857798	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	7138146	90857798	100296478	103	17867											
BMPR1B	658	broad.mit.edu	37	chr4	96046186	96046186	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcattgggttagaacaggatGaaacttacattcctcctgga	12	11	10	8	0	0	2	0	1	0	1	2	4	2	4	2	3	3	2	2	3	4	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:96046186G>C	ENST00000515059.1	+	8	782	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q	BMPR1B_ENST00000394931.1_Missense_Mutation_p.E167Q|BMPR1B_ENST00000264568.4_Missense_Mutation_p.E167Q|BMPR1B_ENST00000440890.2_Missense_Mutation_p.E197Q	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	167					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AGAACAGGATGAAACTTACAT	0.408													10	21					0	0	0	0	C	96046186	G	C	96046186	3	2	92	1	0	0	0	0	1	0	0	0	1475	1291	45	2	517	2	BMPR1B	4	96046186	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	5188388	96046186	95108090	104	17868											
ADH4	127	broad.mit.edu	37	chr4	100062796	100062796	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcaaatttagaatcgataAcagtggcatcagtatggcac	14	10	8	9	1	2	1	2	0	0	1	3	2	2	1	1	2	1	3	1	2	5	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:100062796A>G	ENST00000508393.1	-	4	380	c.215T>C	c.(214-216)gTt>gCt	p.V72A	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.V72A|ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000265512.7_Missense_Mutation_p.V53A|ADH4_ENST00000423445.1_Missense_Mutation_p.V72A			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	53					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	AGAATCGATAACAGTGGCATC	0.443													18	32					0	0	0	0	G	100062796	A	G	100062796	3	3	92	1	0	0	0	0	1	0	0	0	310	43	2	5	1012	5	ADH4	4	100062796	Missense_Mutation	SNP	A	TCGA-CN-6011-01A-11D-1683-08	4016610	100062796	91091480	105	17869											
NFKB1	4790	broad.mit.edu	37	chr4	103534639	103534639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagacaaatgggctacaccGaagcaattgaagtgatccag	15	7	11	8	1	0	3	0	3	0	1	1	5	1	3	2	1	2	2	2	1	5	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:103534639G>A	ENST00000226574.4	+	23	3117	c.2650G>A	c.(2650-2652)Gaa>Aaa	p.E884K	NFKB1_ENST00000505458.1_Missense_Mutation_p.E883K|NFKB1_ENST00000394820.4_Missense_Mutation_p.E883K|NFKB1_ENST00000600343.1_Missense_Mutation_p.E703K	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	883	Death.|Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GGGCTACACCGAAGCAATTGA	0.567													8	21					0	0	0	0	A	103534639	G	A	103534639	3	1	92	1	0	0	0	0	1	0	0	0	10445	1059	37	1	2736	1	NFKB1	4	103534639	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	3471843	103534639	87619637	106	17870											
KIAA1109	84162	broad.mit.edu	37	chr4	123249442	123249442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtttgtcttctaccagtGaagattccgagaaggatgaa	13	11	10	7	1	2	4	0	2	2	2	3	6	3	5	2	1	1	1	2	1	4	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:123249442G>A	ENST00000264501.4	+	66	11552	c.11179G>A	c.(11179-11181)Gaa>Aaa	p.E3727K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3727K			Q2LD37	K1109_HUMAN	KIAA1109	3727					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCTACCAGTGAAGATTCCGA	0.423													22	43					0	0	0	0	A	123249442	G	A	123249442	3	1	92	1	0	0	0	0	1	0	0	0	8259	1291	45	2	11433	2	KIAA1109	4	123249442	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	19714803	123249442	67904834	107	17871											
SPATA5	166378	broad.mit.edu	37	chr4	123977581	123977581	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatatgttggtgaatctgaaAgagcagttagagaggtaaga	16	10	13	2	0	1	5	0	2	1	3	1	6	1	5	0	2	1	4	0	2	6	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:123977581A>G	ENST00000274008.3	+	12	2188	c.2119A>G	c.(2119-2121)Aga>Gga	p.R707G	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	707					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TGAATCTGAAAGAGCAGTTAG	0.383													10	13					0	0	0	0	G	123977581	A	G	123977581	3	3	92	1	0	0	0	0	1	0	0	0	15101	64	3	5	2165	5	SPATA5	4	123977581	Missense_Mutation	SNP	A	TCGA-CN-6011-01A-11D-1683-08	728139	123977581	67176695	108	17872											
FAT4	79633	broad.mit.edu	37	chr4	126238739	126238739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagattctcccgcggccaaCgggaacatctccgtgcaaat	10	7	10	14	4	2	1	0	0	2	1	4	2	2	2	3	2	3	2	3	2	3	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:126238739C>G	ENST00000394329.3	+	1	1186	c.1173C>G	c.(1171-1173)aaC>aaG	p.N391K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	391	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N391N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCGCGGCCAACGGGAACATCT	0.607											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	21					0	0	0	0	G	126238739	C	G	126238739	3	3	92	1	0	0	0	0	1	0	0	0	5737	535	19	3	1175	3	FAT4	4	126238739	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	2261158	126238739	64915537	109	17873											
LARP1B	55132	broad.mit.edu	37	chr4	129043203	129043203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccttatgtgaaaaaacatCctggaggagatcgaacaggc	15	7	10	9	1	0	2	0	1	0	1	2	5	1	3	2	3	2	0	2	3	5	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:129043203C>T	ENST00000326639.6	+	11	1595	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S	LARP1B_ENST00000512292.1_Missense_Mutation_p.P462S|LARP1B_ENST00000264584.5_Missense_Mutation_p.P415S|LARP1B_ENST00000427266.1_Missense_Mutation_p.P462S|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Missense_Mutation_p.P462S	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	462			P -> R (in dbSNP:rs12508837).				RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GAAAAAACATCCTGGAGGAGA	0.368													41	38					0	0	0	0	T	129043203	C	T	129043203	3	4	92	1	0	0	0	0	1	0	0	0	8682	855	30	2	1507	2	LARP1B	4	129043203	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	2804464	129043203	62111073	110	17874											
POU4F2	5458	broad.mit.edu	37	chr4	147561835	147561835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctactttgccattcagcctCggccctcctctgaaaagatc	8	11	6	16	1	2	2	1	1	1	1	5	2	3	2	5	1	3	0	5	1	3	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:147561835C>T	ENST00000281321.3	+	2	1353	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	369					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CATTCAGCCTCGGCCCTCCTC	0.577													18	52					0	0	0	0	T	147561835	C	T	147561835	3	4	92	1	0	0	0	0	1	0	0	0	12350	875	31	1	1111	1	POU4F2	4	147561835	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	18518632	147561835	43592441	111	17875											
MAB21L2	10586	broad.mit.edu	37	chr4	151504859	151504859	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaagcagagctcggcagaGagcgacgcctgggtgctaca	10	4	16	11	3	0	2	0	0	0	2	1	4	0	2	1	3	5	5	1	3	2	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:151504859G>C	ENST00000317605.4	+	1	1783	c.678G>C	c.(676-678)gaG>gaC	p.E226D	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	226					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCTCGGCAGAGAGCGACGCCT	0.647													12	41					0	0	0	0	C	151504859	G	C	151504859	3	2	92	1	0	0	0	0	1	0	0	0	9207	933	33	2	680	2	MAB21L2	4	151504859	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	3943024	151504859	39649417	112	17876											
NAF1	92345	broad.mit.edu	37	chr4	164069513	164069513	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctagttgttcaataatacttGaaaccatcccaagaggcttt	13	13	6	9	0	1	2	1	1	0	1	2	2	2	2	2	1	2	3	2	1	6	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:164069513G>C	ENST00000274054.2	-	3	807	c.614C>G	c.(613-615)tCa>tGa	p.S205*	NAF1_ENST00000422287.2_Nonsense_Mutation_p.S205*	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	205					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				AATAATACTTGAAACCATCCC	0.284													9	99					0	0	0	0	C	164069513	G	C	164069513	4	2	92	1	0	0	0	0	0	1	0	0	10210	1294	45	2	1035	2	NAF1	4	164069513	Nonsense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	12564654	164069513	27084763	113	17877											
TKTL2	84076	broad.mit.edu	37	chr4	164393894	164393894	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcatttgcacggcccagTttagccagagccaaaccata	11	10	7	13	1	1	1	1	0	0	1	1	1	1	1	4	1	4	2	4	1	3	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:164393894T>A	ENST00000280605.3	-	1	1153	c.993A>T	c.(991-993)aaA>aaT	p.K331N		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	331						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				cacggcccagtttagccagag	0.423													28	82					0	0	0	0	A	164393894	T	A	164393894	3	1	92	1	0	0	0	0	1	0	0	0	16030	1722	60	5	891	5	TKTL2	4	164393894	Missense_Mutation	SNP	T	TCGA-CN-6011-01A-11D-1683-08	324381	164393894	26760382	114	17878											
DDX60L	91351	broad.mit.edu	37	chr4	169317111	169317111	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taataattctctgacgtactGagtctttattcctggtaatt	10	18	6	7	1	2	2	0	2	2	0	4	2	3	2	1	1	1	2	1	1	5	9			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:169317111G>C	ENST00000511577.1	-	27	3903	c.3657_splice	c.e27+1	p.S1219_splice	DDX60L_ENST00000260184.7_Splice_Site_p.S1219_splice|DDX60L_ENST00000505890.1_Splice_Site_p.S1220_splice			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1219	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGACGTACTGAGTCTTTATT	0.343													4	23					0	0	0	0	C	169317111	G	C	169317111	5	2	92	1	0	0	0	0	0	0	1	0	4411	1304	45	2	1512	2	DDX60L	4	169317111	Splice_Site	SNP	G	TCGA-CN-6011-01A-11D-1683-08	4923217	169317111	21837165	115	17879											
DDX60L	91351	broad.mit.edu	37	chr4	169393962	169393962	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgtgaatggcacctcTgtaataaaagaaaaaataga	18	11	8	4	0	1	4	0	2	1	2	1	4	1	4	1	1	0	2	1	1	8	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:169393962T>C	ENST00000511577.1	-	2	138		c.e2-2		DDX60L_ENST00000260184.7_Splice_Site|DDX60L_ENST00000505890.1_Splice_Site|DDX60L_ENST00000515088.1_Splice_Site			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like								ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATGGCACCTCTGTAATAAAAG	0.343													12	5					0	0	0	0	C	169393962	T	C	169393962	5	2	92	1	0	0	0	0	0	0	1	0	4411	1594	55	5		5	DDX60L	4	169393962	Splice_Site	SNP	T	TCGA-CN-6011-01A-11D-1683-08	76851	169393962	21760314	116	17880											
AADAT	51166	broad.mit.edu	37	chr4	170989840	170989840	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaaatcctattctcaaccTacgtggaaagagaaaaggca	18	8	7	8	1	1	1	1	0	1	1	3	3	2	2	2	2	2	1	2	2	9	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:170989840T>G	ENST00000337664.4	-	8	1080		c.e8-2		AADAT_ENST00000509167.1_Splice_Site|AADAT_ENST00000515480.1_Splice_Site|AADAT_ENST00000353187.2_Splice_Site	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase						2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATTCTCAACCTACGTGGAAAG	0.363													6	54					0	0	0	0	G	170989840	T	G	170989840	5	3	92	1	0	0	0	0	0	0	1	0	14	1536	53	5	499	5	AADAT	4	170989840	Splice_Site	SNP	T	TCGA-CN-6011-01A-11D-1683-08	1595878	170989840	20164436	117	17881											
SEMA5A	9037	broad.mit.edu	37	chr5	9154808	9154808	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcttaatggttccgtaatCtatgaaggtcacaggatgaa	12	14	9	6	1	3	2	1	2	2	0	4	3	4	3	1	3	0	2	1	3	5	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:9154808C>G	ENST00000382496.5	-	12	1939		c.e12-1			NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A						cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTTCCGTAATCTATGAAGGTC	0.498													29	130					0	0	0	0	G	9154808	C	G	9154808	5	3	92	1	0	0	0	0	0	0	1	0	14124	927	32	2	1999	2	SEMA5A	5	9154808	Splice_Site	SNP	C	TCGA-CN-6011-01A-11D-1683-08		9154808	171760452	118	17882											
DNAH5	1767	broad.mit.edu	37	chr5	13923469	13923469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccccagtaagagccacatCgtttccctcggtcacgaaca	11	8	7	15	3	1	1	1	0	0	1	4	2	2	1	4	1	3	2	4	1	3	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:13923469C>T	ENST00000265104.4	-	4	462	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	120	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D120N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGCCACATCGTTTCCCTCG	0.458									Kartagener syndrome				24	303					0	0	0	0	T	13923469	C	T	13923469	3	4	92	1	0	0	0	0	1	0	0	0	4641	884	31	1	13820	1	DNAH5	5	13923469	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	4768661	13923469	166991791	119	17883											
MYO10	4651	broad.mit.edu	37	chr5	16676206	16676206	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaggggtgatgggtgtatcGaaggatcgggttccgcttgt	7	11	17	6	3	0	1	0	1	0	0	3	3	1	2	1	5	0	3	1	5	3	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:16676206G>A	ENST00000513610.1	-	34	5054	c.4600C>T	c.(4600-4602)Cga>Tga	p.R1534*	MYO10_ENST00000505695.1_Nonsense_Mutation_p.R873*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.R891*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.R873*|MYO10_ENST00000427430.2_Nonsense_Mutation_p.R891*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1534					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGGGTGTATCGAAGGATCGGG	0.493													19	141					0	0	0	0	A	16676206	G	A	16676206	4	1	92	1	0	0	0	0	0	1	0	0	10132	1066	37	1	1608	1	MYO10	5	16676206	Nonsense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2752737	16676206	164239054	120	17884											
MTMR12	54545	broad.mit.edu	37	chr5	32230321	32230321	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagttgtcttggagctcatCagaagaattaataagtttgc	14	13	9	5	0	3	2	2	0	1	2	3	3	3	3	0	1	2	3	0	1	5	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:32230321C>G	ENST00000382142.3	-	16	1977	c.1807G>C	c.(1807-1809)Gat>Cat	p.D603H	MTMR12_ENST00000264934.5_Missense_Mutation_p.D493H|MTMR12_ENST00000280285.5_Missense_Mutation_p.D549H|MTMR12_ENST00000510216.1_5'UTR	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	603	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGAGCTCATCAGAAGAATTA	0.403													26	155					0	0	0	0	G	32230321	C	G	32230321	3	3	92	1	0	0	0	0	1	0	0	0	10011	826	29	2	440	2	MTMR12	5	32230321	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	15554115	32230321	148684939	121	17885											
TTC23L	153657	broad.mit.edu	37	chr5	34863022	34863022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcccagttcaggccaaGaaacatgctacatcagccaa	13	6	8	14	0	2	1	2	0	0	1	3	1	3	1	4	2	4	2	4	2	4	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:34863022G>T	ENST00000505624.1	+	5	502	c.399G>T	c.(397-399)aaG>aaT	p.K133N	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	133							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TTCAGGCCAAGAAACATGCTA	0.478													13	69					9.31168e-06	9.75414e-06	1	0	T	34863022	G	T	34863022	3	4	92	1	0	0	0	0	1	0	0	0	16787	933	33	2	413	2	TTC23L	5	34863022	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2632701	34863022	146052238	122	17886											
WDR70	55100	broad.mit.edu	37	chr5	37725096	37725096	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaaggaaacagctggagaAggacagactggatcccctga	15	5	12	9	0	0	3	0	1	0	2	1	7	1	6	2	4	3	1	2	4	4	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:37725096A>G	ENST00000265107.4	+	16	1814	c.1658A>G	c.(1657-1659)aAg>aGg	p.K553R		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	553										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCTGGAGAAGGACAGACTG	0.502													119	103					0	0	0	0	G	37725096	A	G	37725096	3	3	92	1	0	0	0	0	1	0	0	0	17417	72	3	5	1720	5	WDR70	5	37725096	Missense_Mutation	SNP	A	TCGA-CN-6011-01A-11D-1683-08	2862074	37725096	143190164	123	17887											
EGFLAM	133584	broad.mit.edu	37	chr5	38451422	38451422	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtatttcctccagggtgtCaggatcaagatcaaatgtgt	10	13	11	7	0	3	1	3	0	0	1	5	2	5	2	2	2	0	1	2	2	3	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:38451422C>G	ENST00000322350.5	+	19	2895	c.2549C>G	c.(2548-2550)tCa>tGa	p.S850*	EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000336740.6_Nonsense_Mutation_p.S616*|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000354891.3_Nonsense_Mutation_p.S858*|EGFLAM_ENST00000397202.2_Nonsense_Mutation_p.S216*	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	858	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCCAGGGTGTCAGGATCAAGA	0.478													38	297					0	0	0	0	G	38451422	C	G	38451422	4	3	92	1	0	0	0	0	0	1	0	0	5002	838	29	2	2637	2	EGFLAM	5	38451422	Nonsense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	726326	38451422	142463838	124	17888											
RICTOR	253260	broad.mit.edu	37	chr5	38991111	38991111	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctctttcttgaagtccatCatttccaactgcaattaatg	10	16	5	10	0	3	1	1	1	2	0	6	1	5	1	2	0	2	1	2	0	4	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:38991111C>G	ENST00000357387.3	-	7	553	c.523G>C	c.(523-525)Gat>Cat	p.D175H	RICTOR_ENST00000296782.5_Missense_Mutation_p.D175H	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	175					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGAAGTCCATCATTTCCAACT	0.353													4	99					0	0	0	0	G	38991111	C	G	38991111	3	3	92	1	0	0	0	0	1	0	0	0	13441	826	29	2	4731	2	RICTOR	5	38991111	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	539689	38991111	141924149	125	17889											
PAIP1	10605	broad.mit.edu	37	chr5	43527498	43527498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttactgttttcgcttacgctCtgattccaaacaaaactttt	10	17	4	10	2	1	1	0	1	1	0	3	1	2	1	1	0	4	3	1	0	5	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:43527498C>G	ENST00000306846.3	-	11	1652	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	PAIP1_ENST00000436644.2_Missense_Mutation_p.E395Q|PAIP1_ENST00000338972.4_Missense_Mutation_p.E362Q|PAIP1_ENST00000514514.1_3'UTR	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	474	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CGCTTACGCTCTGATTCCAAA	0.338													8	79					0	0	0	0	G	43527498	C	G	43527498	3	3	92	1	0	0	0	0	1	0	0	0	11467	922	32	2	23	2	PAIP1	5	43527498	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	4536387	43527498	137387762	126	17890											
PAIP1	10605	broad.mit.edu	37	chr5	43527528	43527528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaaacttttcataagcttCttctatctctgggtccatct	10	16	4	11	0	5	0	1	0	4	0	7	0	6	0	1	1	2	1	1	1	4	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:43527528C>G	ENST00000306846.3	-	11	1622	c.1390G>C	c.(1390-1392)Gaa>Caa	p.E464Q	PAIP1_ENST00000436644.2_Missense_Mutation_p.E385Q|PAIP1_ENST00000338972.4_Missense_Mutation_p.E352Q|PAIP1_ENST00000514514.1_3'UTR	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	464	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TCATAAGCTTCTTCTATCTCT	0.328													11	81					0	0	0	0	G	43527528	C	G	43527528	3	3	92	1	0	0	0	0	1	0	0	0	11467	922	32	2	53	2	PAIP1	5	43527528	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	30	43527528	137387732	127	17891											
PRR16	51334	broad.mit.edu	37	chr5	120022237	120022237	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agattcctcaccaaggccctCccctccctcctacaccccat	8	8	3	22	0	1	1	1	0	0	1	5	1	5	1	9	1	1	0	9	1	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:120022237C>A	ENST00000379551.2	+	3	1036	c.679C>A	c.(679-681)Ccc>Acc	p.P227T	PRR16_ENST00000505123.1_Missense_Mutation_p.P180T|PRR16_ENST00000446965.1_Missense_Mutation_p.P180T|PRR16_ENST00000407149.2_Missense_Mutation_p.P250T	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	250	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCAAGGCCCTCCCCTCCCTCC	0.522													19	16					2.4624e-09	2.619e-09	1	0	A	120022237	C	A	120022237	3	1	92	1	0	0	0	0	1	0	0	0	12669	855	30	2	685	2	PRR16	5	120022237	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	76494709	120022237	60893023	128	17892											
FBN2	2201	broad.mit.edu	37	chr5	127645021	127645021	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagcacatcctttttgtCacattgaaaggcaactcatt	12	12	6	11	0	2	1	2	1	0	0	3	1	3	1	1	1	3	3	1	1	2	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:127645021C>G	ENST00000508053.1	-	47	6245	c.5271G>C	c.(5269-5271)gtG>gtC	p.V1757V	FBN2_ENST00000262464.4_Silent_p.V1757V			P35556	FBN2_HUMAN	fibrillin 2	1757	TB 7.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCTTTTTGTCACATTGAAAG	0.428													4	48					0	0	0	0	G	127645021	C	G	127645021	2	3	92	1	0	0	0	0	0	0	0	1	5748	813	29	2		2	FBN2	5	127645021	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	7622784	127645021	53270239	129	17893											
KDM3B	51780	broad.mit.edu	37	chr5	137735696	137735696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcaggaaaagccggccacGcagtggtaagtaaacattgt	13	7	12	9	2	1	0	1	0	0	0	1	1	1	1	2	3	2	4	2	3	5	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:137735696G>A	ENST00000314358.5	+	11	3394	c.3194G>A	c.(3193-3195)cGc>cAc	p.R1065H	KDM3B_ENST00000394866.1_Missense_Mutation_p.R721H|KDM3B_ENST00000542866.1_Missense_Mutation_p.R97H	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1065					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGCCGGCCACGCAGTGGTAAG	0.478													4	61					0	0	0	0	A	137735696	G	A	137735696	3	1	92	1	0	0	0	0	1	0	0	0	8180	1087	38	1	3236	1	KDM3B	5	137735696	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	10090675	137735696	43179564	130	17894											
PCDHB7	56129	broad.mit.edu	37	chr5	140554059	140554059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcgaggcgctggtgcGcgtgctggtgctggacgcca	5	6	19	11	5	0	0	0	0	0	0	0	3	0	1	1	4	5	4	1	4	0	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:140554059G>A	ENST00000231137.3	+	1	1817	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		548	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGTGCGCGTGCTGGTG	0.726													50	29					0	0	0	0	A	140554059	G	A	140554059	3	1	92	1	0	0	0	0	1	0	0	0	11618	1087	38	1	1645	1	PCDHB7	5	140554059	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2818363	140554059	40361201	131	17895											
PCDHGA4	56111	broad.mit.edu	37	chr5	140737171	140737171	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatttacttgaaacaaaaGgagaccctaatcttcaggtg	15	10	9	7	0	2	2	1	1	1	1	2	4	2	3	1	3	2	0	1	3	5	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:140737171G>C	ENST00000571252.1	+	1	2404	c.2404G>C	c.(2404-2406)Gga>Cga	p.G802R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAACAAAAGGAGACCCTAA	0.393													11	26					0	0	0	0	C	140737171	G	C	140737171	3	2	92	1	0	0	0	0	1	0	0	0	11627	1001	35	4	2406	4	PCDHGA4	5	140737171	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	183112	140737171	40178089	132	17896											
CYFIP2	26999	broad.mit.edu	37	chr5	156751060	156751060	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaaacagtccttcttcttCacacatctgctcaacatcag	12	11	3	15	0	6	0	3	0	3	0	7	0	7	0	1	0	3	1	1	0	2	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:156751060C>T	ENST00000347377.6	+	16	2234	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	CYFIP2_ENST00000318218.6_Silent_p.F626F|CYFIP2_ENST00000541131.1_Silent_p.F526F|CYFIP2_ENST00000521420.1_Silent_p.F575F|CYFIP2_ENST00000435847.2_Silent_p.F300F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Silent_p.F601F|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000522463.1_Silent_p.F405F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	626					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTTCTTCTTCACACATCTGC	0.547													18	7					0	0	0	0	T	156751060	C	T	156751060	2	4	92	1	0	0	0	0	0	0	0	1	4170	825	29	2		2	CYFIP2	5	156751060	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	16013889	156751060	24164200	133	17897											
ATP10B	23120	broad.mit.edu	37	chr5	159992488	159992488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgaactctgggatcggCgatggctgctcctctttgag	6	12	13	10	2	3	2	1	2	2	0	5	4	4	3	1	3	2	2	1	3	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:159992488C>T	ENST00000327245.5	-	26	5204	c.4358G>A	c.(4357-4359)cGc>cAc	p.R1453H		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1453					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGGATCGGCGATGGCTGCT	0.532													29	66					0	0	0	0	T	159992488	C	T	159992488	3	4	92	1	0	0	0	0	1	0	0	0	1121	768	27	1	31	1	ATP10B	5	159992488	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	3241428	159992488	20922772	134	17898											
GABRG2	2566	broad.mit.edu	37	chr5	161569304	161569304	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatcaataaggatgctgttCcagccagaacatctttaggt	12	11	10	8	0	2	1	1	0	1	1	3	3	3	3	2	3	3	2	2	3	4	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:161569304C>A	ENST00000356592.3	+	7	1364	c.904C>A	c.(904-906)Cca>Aca	p.P302T	GABRG2_ENST00000361925.4_Missense_Mutation_p.P302T|GABRG2_ENST00000414552.2_Missense_Mutation_p.P342T|GABRG2_ENST00000393933.4_Missense_Mutation_p.P207T	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	302					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GGATGCTGTTCCAGCCAGAAC	0.403													64	22					7.59065e-32	8.36696e-32	1	0	A	161569304	C	A	161569304	3	1	92	1	0	0	0	0	1	0	0	0	6220	855	30	2	1054	2	GABRG2	5	161569304	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1576816	161569304	19345956	135	17899											
DOCK2	1794	broad.mit.edu	37	chr5	169454870	169454870	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctcctacatcttcagtttGaaaacgaaatcatcctgaag	13	12	6	10	1	4	2	2	2	2	0	6	3	5	2	2	0	2	1	2	0	5	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:169454870G>C	ENST00000256935.8	+	34	3465	c.3385G>C	c.(3385-3387)Gaa>Caa	p.E1129Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.E621Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.E190Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1129	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTCAGTTTGAAAACGAAAT	0.458													15	43					0	0	0	0	C	169454870	G	C	169454870	3	2	92	1	0	0	0	0	1	0	0	0	4723	1291	45	2	3519	2	DOCK2	5	169454870	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	7885566	169454870	11460390	136	17900											
HIVEP1	3096	broad.mit.edu	37	chr6	12120396	12120396	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaataattgctgaagcctCaaaatctgaagaatctgtct	14	12	8	7	0	4	3	1	2	3	1	4	4	4	4	1	1	2	1	1	1	7	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:12120396C>G	ENST00000379388.2	+	4	700	c.368C>G	c.(367-369)tCa>tGa	p.S123*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	123					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCTGAAGCCTCAAAATCTGAA	0.433													25	54					0	0	0	0	G	12120396	C	G	12120396	4	3	92	1	0	0	0	0	0	1	0	0	7236	838	29	2	378	2	HIVEP1	6	12120396	Nonsense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08		12120396	158994671	137	17901											
ACOT13	55856	broad.mit.edu	37	chr6	24698242	24698242	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataacatatcaacaatggcTctgctatgcacggaaagggg	14	8	11	8	1	2	0	1	0	1	0	2	2	2	1	0	4	4	3	0	4	6	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:24698242T>C	ENST00000537591.1	+	3	731	c.144T>C	c.(142-144)gcT>gcC	p.A48A	ACOT13_ENST00000476436.1_3'UTR|ACOT13_ENST00000230048.4_Silent_p.A71A	NM_001160094.1	NP_001153566.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13	71					protein homotetramerization	mitochondrion	acyl-CoA thioesterase activity			large_intestine(1)	1						CAACAATGGCTCTGCTATGCA	0.438													15	41					0	0	0	0	C	24698242	T	C	24698242	2	2	92	1	0	0	0	0	0	0	0	1	151	1538	54	5		5	ACOT13	6	24698242	Silent	SNP	T	TCGA-CN-6011-01A-11D-1683-08	12577846	24698242	146416825	138	17902											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225674	26225674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcgctgcaggaggcctgcGaggcctacttggtggggctt	4	9	18	10	2	0	0	0	0	0	0	0	2	0	1	2	7	3	3	2	7	1	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:26225674G>A	ENST00000360408.1	+	1	292	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGAGGCCTGCGAGGCCTACTT	0.592											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	42					0	0	0	0	A	26225674	G	A	26225674	3	1	92	1	0	0	0	0	1	0	0	0	7209	1059	37	1	294	1	HIST1H3E	6	26225674	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1527432	26225674	144889393	139	17903											
HIST1H2AI	8329	broad.mit.edu	37	chr6	27776351	27776351	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgctactgcccaagaagaccGagagccaccacaaggcgaag	14	3	11	13	2	0	3	0	0	0	3	0	5	0	3	4	1	4	1	4	1	5	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:27776351G>C	ENST00000358739.3	+	1	453	c.364G>C	c.(364-366)Gag>Cag	p.E122Q		NM_003509.2	NP_003500.1			histone cluster 1, H2ai											lung(3)	3						CAAGAAGACCGAGAGCCACCA	0.542													24	20					0	0	0	0	C	27776351	G	C	27776351	3	2	92	1	0	0	0	0	1	0	0	0	7185	1059	37	3	366	3	HIST1H2AI	6	27776351	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1550677	27776351	143338716	140	17904											
GABBR1	2550	broad.mit.edu	37	chr6	29588923	29588923	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggattcagcatgacaatCtcagttgtgatgtggccctc	9	11	11	10	0	2	2	2	2	1	0	4	3	2	3	1	2	1	3	1	2	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:29588923C>G	ENST00000377034.4	-	11	1613	c.1278G>C	c.(1276-1278)gaG>gaC	p.E426D	GABBR1_ENST00000377012.4_Missense_Mutation_p.E309D|GABBR1_ENST00000377016.4_Missense_Mutation_p.E364D|GABBR1_ENST00000376977.3_Missense_Mutation_p.E426D|GABBR1_ENST00000355973.3_Missense_Mutation_p.E309D	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	426					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GCATGACAATCTCAGTTGTGA	0.532													11	28					0	0	0	0	G	29588923	C	G	29588923	3	3	92	1	0	0	0	0	1	0	0	0	6203	912	32	2	1659	2	GABBR1	6	29588923	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1812572	29588923	141526144	141	17905											
VARS	7407	broad.mit.edu	37	chr6	31750118	31750118	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgggcctcaggcaggatgcgGaggtcaccccgagtcacagc	8	5	15	13	2	3	0	3	0	0	0	3	3	3	2	3	5	2	1	3	5	0	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:31750118G>C	ENST00000375663.3	-	17	2534	c.2094C>G	c.(2092-2094)ctC>ctG	p.L698L	VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	698					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCAGGATGCGGAGGTCACCCC	0.667													6	15					0	0	0	0	C	31750118	G	C	31750118	2	2	92	1	0	0	0	0	0	0	0	1	17219	1161	41	2		2	VARS	6	31750118	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2161195	31750118	139364949	142	17906											
VARS	7407	broad.mit.edu	37	chr6	31759748	31759748	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcatggggccactgacaTctgggggagaggaagggagg	9	4	21	7	1	1	2	0	1	1	1	1	5	1	4	1	8	0	1	1	8	1	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:31759748T>G	ENST00000375663.3	-	7	1312	c.871_splice	c.e7-1	p.D291_splice	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	291					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCCACTGACATCTGGGGGAGA	0.622													3	6					0	0	0	0	G	31759748	T	G	31759748	5	3	92	1	0	0	0	0	0	0	1	0	17219	1449	50	5	3018	5	VARS	6	31759748	Splice_Site	SNP	T	TCGA-CN-6011-01A-11D-1683-08	9630	31759748	139355319	143	17907											
ATF6B	1388	broad.mit.edu	37	chr6	32087660	32087660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaacgatgctcttcctctCaggccgtggtagagagggag	8	8	16	9	2	2	1	1	0	2	1	4	5	3	3	2	4	2	2	2	4	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:32087660C>T	ENST00000375201.4	-	9	943	c.898G>A	c.(898-900)Gag>Aag	p.E300K	ATF6B_ENST00000375203.3_Missense_Mutation_p.E303K			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	303					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CTCTTCCTCTCAGGCCGTGGT	0.592													13	33					0	0	0	0	T	32087660	C	T	32087660	3	4	92	1	0	0	0	0	1	0	0	0	1089	835	29	2	1244	2	ATF6B	6	32087660	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	327912	32087660	139027407	144	17908											
DNAH8	1769	broad.mit.edu	37	chr6	38830055	38830055	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattggatgaacatttgcaGatgctatatcacgttagctc	11	15	8	7	1	1	2	1	1	0	1	2	3	1	3	0	1	4	4	0	1	5	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:38830055G>A	ENST00000359357.3	+	42	5734		c.e42-1		DNAH8_ENST00000441566.1_Splice_Site|DNAH8_ENST00000449981.2_Splice_Site					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACATTTGCAGATGCTATATC	0.463													18	34					0	0	0	0	A	38830055	G	A	38830055	5	1	92	1	0	0	0	0	0	0	1	0	4643	956	33	2	5638	2	DNAH8	6	38830055	Splice_Site	SNP	G	TCGA-CN-6011-01A-11D-1683-08	6742395	38830055	132285012	145	17909											
KIF6	221458	broad.mit.edu	37	chr6	39688494	39688494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacttaaatttgtagctttCtcgcttattattcacaaacc	11	18	3	9	1	2	0	1	0	1	0	3	0	2	0	1	0	3	3	1	0	7	8			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:39688494C>T	ENST00000287152.7	-	2	254	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	KIF6_ENST00000373216.3_Missense_Mutation_p.E54K|KIF6_ENST00000538893.1_Missense_Mutation_p.E54K|KIF6_ENST00000373215.3_Missense_Mutation_p.E54K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	54	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTGTAGCTTTCTCGCTTATTA	0.299													15	25					0	0	0	0	T	39688494	C	T	39688494	3	4	92	1	0	0	0	0	1	0	0	0	8359	922	32	2	2372	2	KIF6	6	39688494	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	858439	39688494	131426573	146	17910											
SRF	6722	broad.mit.edu	37	chr6	43144380	43144380	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtgacagcagcacagacctCacgcagacctcctccagcgg	10	4	10	17	3	1	3	1	1	0	2	3	3	3	3	4	1	3	3	4	1	0	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:43144380C>T	ENST00000265354.4	+	4	1495	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	SRF_ENST00000457278.2_Silent_p.L175L	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	379					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCACAGACCTCACGCAGACCT	0.647													18	81					0	0	0	0	T	43144380	C	T	43144380	2	4	92	1	0	0	0	0	0	0	0	1	15233	813	29	2		2	SRF	6	43144380	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	3455886	43144380	127970687	147	17911											
MICAL1	64780	broad.mit.edu	37	chr6	109771220	109771220	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgccctctgcccaccgcttCaccatccaggctgcatcaaa	8	7	7	19	2	3	0	2	0	1	0	4	0	4	0	5	1	2	3	5	1	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:109771220C>T	ENST00000368952.4	-	9	1607	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	MICAL1_ENST00000358807.3_Silent_p.V420V|MICAL1_ENST00000358577.3_Silent_p.V334V			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	420					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CCCACCGCTTCACCATCCAGG	0.612													25	251					0	0	0	0	T	109771220	C	T	109771220	2	4	92	1	0	0	0	0	0	0	0	1	9638	813	29	2		2	MICAL1	6	109771220	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	66626840	109771220	61343847	148	17912											
LAMA4	3910	broad.mit.edu	37	chr6	112443245	112443245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatctccttttaagtgttCaaactcttggcggctgttgg	9	15	9	8	1	3	0	1	0	2	0	4	0	3	0	1	3	1	3	1	3	4	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:112443245C>G	ENST00000230538.7	-	32	4844	c.4447G>C	c.(4447-4449)Gaa>Caa	p.E1483Q	LAMA4_ENST00000424408.2_Missense_Mutation_p.E1476Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.E1476Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.E1476Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1483	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTAAGTGTTCAAACTCTTGG	0.443													17	54					0	0	0	0	G	112443245	C	G	112443245	3	3	92	1	0	0	0	0	1	0	0	0	8661	835	29	2	1056	2	LAMA4	6	112443245	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	2672025	112443245	58671822	149	17913											
RSPH4A	345895	broad.mit.edu	37	chr6	116938128	116938128	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cctcagtcggacaggaccacGagtgtgattcctgaagctgg	9	8	13	11	2	1	2	1	2	0	0	3	5	2	4	3	3	1	1	3	3	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:116938128G>C	ENST00000229554.5	+	1	479	c.342G>C	c.(340-342)acG>acC	p.T114T	RSPH4A_ENST00000368581.4_Silent_p.T114T|RSPH4A_ENST00000368580.4_Silent_p.T114T	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	114					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACAGGACCACGAGTGTGATTC	0.552									Kartagener syndrome				18	51					0	0	0	0	C	116938128	G	C	116938128	2	2	92	1	0	0	0	0	0	0	0	1	13791	1045	37	3		3	RSPH4A	6	116938128	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	4494883	116938128	54176939	150	17914											
FAM184A	79632	broad.mit.edu	37	chr6	119345734	119345734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagttgcatgtcctcaactCtgtgcttataagcttcaaat	12	14	6	9	0	3	0	2	0	1	0	4	0	4	0	1	0	4	4	1	0	5	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:119345734C>G	ENST00000338891.7	-	2	847	c.404G>C	c.(403-405)aGa>aCa	p.R135T	FAM184A_ENST00000368475.4_Missense_Mutation_p.R15T|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.R15T|FAM184A_ENST00000521531.1_Missense_Mutation_p.R135T|FAM184A_ENST00000352896.5_Missense_Mutation_p.R15T	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	135										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTCCTCAACTCTGTGCTTATA	0.378													25	42					0	0	0	0	G	119345734	C	G	119345734	3	3	92	1	0	0	0	0	1	0	0	0	5553	913	32	2	3086	2	FAM184A	6	119345734	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	2407606	119345734	51769333	151	17915											
STX7	8417	broad.mit.edu	37	chr6	132785161	132785161	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgcccttgacagctgctGatttgcttgctgaacgtgca	6	13	11	11	1	0	3	0	3	0	0	0	3	0	3	1	0	8	6	1	0	1	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:132785161G>A	ENST00000367941.2	-	9	777	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	STX7_ENST00000367937.4_Nonsense_Mutation_p.Q222*	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	222	t-SNARE coiled-coil homology.				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GACAGCTGCTGATTTGCTTGC	0.378													30	101					0	0	0	0	A	132785161	G	A	132785161	4	1	92	1	0	0	0	0	0	1	0	0	15440	1299	45	2	129	2	STX7	6	132785161	Nonsense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	13439427	132785161	38329906	152	17916											
TAAR6	319100	broad.mit.edu	37	chr6	132892295	132892295	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccatatagcattgattcaTtaattgatgcctttatgggc	11	16	7	7	0	1	2	1	2	0	0	1	2	1	2	2	1	3	1	2	1	5	9			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:132892295T>C	ENST00000275198.1	+	1	835	c.835T>C	c.(835-837)Tta>Cta	p.L279L		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	279						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CATTGATTCATTAATTGATGC	0.408													22	61					0	0	0	0	C	132892295	T	C	132892295	2	2	92	1	0	0	0	0	0	0	0	1	15583	1490	52	5		5	TAAR6	6	132892295	Silent	SNP	T	TCGA-CN-6011-01A-11D-1683-08	107134	132892295	38222772	153	17917											
CCDC28A	25901	broad.mit.edu	37	chr6	139106386	139106386	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgaatgttccattgaacaGatggaacatgttcggggaat	14	11	11	5	1	0	3	0	2	0	1	2	5	1	5	1	3	2	2	1	3	5	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:139106386G>A	ENST00000332797.6	+	4	770	c.615G>A	c.(613-615)caG>caA	p.Q205Q		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	205										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CCATTGAACAGATGGAACATG	0.388													53	45					0	0	0	0	A	139106386	G	A	139106386	2	1	92	1	0	0	0	0	0	0	0	1	2828	933	33	2		2	CCDC28A	6	139106386	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	6214091	139106386	32008681	154	17918											
HIVEP2	3097	broad.mit.edu	37	chr6	143094723	143094723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgggctcagaaggttgaGcgatggctcagaatcttgtc	8	10	15	8	2	3	3	2	1	1	2	4	4	3	3	0	3	2	3	0	3	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:143094723G>C	ENST00000367603.2	-	5	1895	c.1153C>G	c.(1153-1155)Ctc>Gtc	p.L385V	HIVEP2_ENST00000012134.2_Missense_Mutation_p.L385V|HIVEP2_ENST00000367604.1_Missense_Mutation_p.L385V	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGAAGGTTGAGCGATGGCTCA	0.438													43	103					0	0	0	0	C	143094723	G	C	143094723	3	2	92	1	0	0	0	0	1	0	0	0	7237	971	34	4	6211	4	HIVEP2	6	143094723	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	3988337	143094723	28020344	155	17919											
SYNE1	23345	broad.mit.edu	37	chr6	152720763	152720763	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaactcaccactgaagtgttTttccagagattcctgcaggc	10	11	9	11	0	1	2	1	1	0	1	3	4	3	2	3	1	2	2	3	1	2	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:152720763T>A	ENST00000367255.5	-	48	7826	c.7225A>T	c.(7225-7227)Aaa>Taa	p.K2409*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.K2446*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.K2416*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.K2409*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.K2416*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2409					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGAAGTGTTTTTCCAGAGAT	0.493										HNSCC(10;0.0054)			138	142					0	0	0	0	A	152720763	T	A	152720763	4	1	92	1	0	0	0	0	0	1	0	0	15536	1850	64	5	19637	5	SYNE1	6	152720763	Nonsense_Mutation	SNP	T	TCGA-CN-6011-01A-11D-1683-08	9626040	152720763	18394304	156	17920											
SYNE1	23345	broad.mit.edu	37	chr6	152763259	152763259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctccaggccatccagtGtgctctccagcttccgcagc	5	9	10	17	2	1	0	0	0	1	0	5	0	4	0	5	1	4	4	5	1	0	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:152763259G>T	ENST00000367255.5	-	31	4560	c.3959C>A	c.(3958-3960)aCa>aAa	p.T1320K	SYNE1_ENST00000413186.2_Missense_Mutation_p.T1320K|SYNE1_ENST00000341594.5_Missense_Mutation_p.T1386K|SYNE1_ENST00000367248.3_Missense_Mutation_p.T1310K|SYNE1_ENST00000423061.1_Missense_Mutation_p.T1327K|SYNE1_ENST00000367253.4_Missense_Mutation_p.T1320K|SYNE1_ENST00000265368.4_Missense_Mutation_p.T1320K|SYNE1_ENST00000448038.1_Missense_Mutation_p.T1327K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1320					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCATCCAGTGTGCTCTCCAG	0.637										HNSCC(10;0.0054)			17	53					3.6726e-16	4.00272e-16	1	0	T	152763259	G	T	152763259	3	4	92	1	0	0	0	0	1	0	0	0	15536	1377	48	4	22971	4	SYNE1	6	152763259	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	42496	152763259	18351808	157	17921											
SYNE1	23345	broad.mit.edu	37	chr6	152841605	152841605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctcttacctttcttccttCgaggaacttgagtgccgtgc	5	15	8	13	2	2	1	0	1	2	0	5	3	3	2	3	1	4	0	3	1	2	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:152841605C>T	ENST00000367255.5	-	6	899	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	SYNE1_ENST00000413186.2_Missense_Mutation_p.E100K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E100K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E100K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E100K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E100K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E100K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E100K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E100K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	100	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.E100K(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCTTCCTTCGAGGAACTTG	0.443										HNSCC(10;0.0054)			40	137					0	0	0	0	T	152841605	C	T	152841605	3	4	92	1	0	0	0	0	1	0	0	0	15536	893	31	1	26757	1	SYNE1	6	152841605	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	78346	152841605	18273462	158	17922											
FNDC1	84624	broad.mit.edu	37	chr6	159653679	159653679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcagaggaagattccagtgCctcagccccaccctcaagac	11	5	9	16	1	2	3	2	0	0	3	3	4	3	4	5	1	2	1	5	1	2	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:159653679C>T	ENST00000297267.9	+	11	2335	c.2135C>T	c.(2134-2136)gCc>gTc	p.A712V	FNDC1_ENST00000340366.6_Missense_Mutation_p.A649V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	712	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GATTCCAGTGCCTCAGCCCCA	0.657													8	12					0	0	0	0	T	159653679	C	T	159653679	3	4	92	1	0	0	0	0	1	0	0	0	6013	739	26	4	2177	4	FNDC1	6	159653679	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	6812074	159653679	11461388	159	17923											
SLC22A3	6581	broad.mit.edu	37	chr6	160857877	160857877	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtgagaactccccaaatGaggaaatgcacacttattct	13	10	8	10	0	1	2	0	2	1	1	2	4	2	3	2	2	2	1	2	2	4	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:160857877G>C	ENST00000392145.1	+	6	1068	c.1041G>C	c.(1039-1041)atG>atC	p.M347I	SLC22A3_ENST00000275300.2_Missense_Mutation_p.M347I			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	347						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CTCCCCAAATGAGGAAATGCA	0.348													16	33					0	0	0	0	C	160857877	G	C	160857877	3	2	92	1	0	0	0	0	1	0	0	0	14543	1290	45	2	1063	2	SLC22A3	6	160857877	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1204198	160857877	10257190	160	17924											
SLC22A3	6581	broad.mit.edu	37	chr6	160864770	160864770	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctagaactacctctgatcatCtttggtaagaactcatttgc	11	14	6	10	0	4	3	2	1	2	2	4	3	4	3	1	1	4	1	1	1	5	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:160864770C>T	ENST00000392145.1	+	9	1536	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	SLC22A3_ENST00000275300.2_Silent_p.I502I			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	502						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CTCTGATCATCTTTGGTAAGA	0.393													32	21					0	0	0	0	T	160864770	C	T	160864770	2	4	92	1	0	0	0	0	0	0	0	1	14543	903	32	2		2	SLC22A3	6	160864770	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	6893	160864770	10250297	161	17925											
THBS2	7058	broad.mit.edu	37	chr6	169640633	169640633	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagcaagctgacatgtTccttgtcttaggagggccac	8	10	11	12	0	1	1	0	1	1	0	2	2	2	2	3	2	3	3	3	2	2	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:169640633T>G	ENST00000366787.3	-	7	1195	c.946A>C	c.(946-948)Aac>Cac	p.N316H		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	316					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GCTGACATGTTCCTTGTCTTA	0.483													27	24					0	0	0	0	G	169640633	T	G	169640633	3	3	92	1	0	0	0	0	1	0	0	0	15948	1783	62	5	2640	5	THBS2	6	169640633	Missense_Mutation	SNP	T	TCGA-CN-6011-01A-11D-1683-08	8775863	169640633	1474434	162	17926											
ETV1	2115	broad.mit.edu	37	chr7	13946217	13946217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacattcctggctcttgtttGatgtctcctaaattaaaaca	11	16	5	9	0	2	1	0	1	2	0	4	1	3	1	2	1	2	2	2	1	5	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:13946217G>C	ENST00000343495.5	-	11	1632	c.894C>G	c.(892-894)atC>atG	p.I298M	ETV1_ENST00000399357.3_Missense_Mutation_p.I213M|ETV1_ENST00000242066.5_Missense_Mutation_p.I298M|ETV1_ENST00000403685.1_Missense_Mutation_p.I298M|ETV1_ENST00000403527.1_Missense_Mutation_p.I276M|ETV1_ENST00000430479.1_Missense_Mutation_p.I316M|ETV1_ENST00000405358.4_Missense_Mutation_p.I330M|ETV1_ENST00000405192.2_Missense_Mutation_p.I293M|ETV1_ENST00000420159.2_Missense_Mutation_p.I258M|ETV1_ENST00000405218.2_Missense_Mutation_p.I316M			P50549	ETV1_HUMAN	ets variant 1	316					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCTCTTGTTTGATGTCTCCTA	0.368			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								3	11					0	0	0	0	C	13946217	G	C	13946217	3	2	92	1	0	0	0	0	1	0	0	0	5315	1280	45	2	497	2	ETV1	7	13946217	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08		13946217	145192446	163	17927											
AGR3	155465	broad.mit.edu	37	chr7	16902261	16902261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtattgacaatcctccaggtGatgaataaccattaatggct	13	12	8	8	0	0	3	0	3	0	0	2	3	2	3	3	2	1	2	3	2	5	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:16902261G>A	ENST00000310398.2	-	4	269	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	AGR3_ENST00000402239.3_Missense_Mutation_p.H67Y	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	67						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TCCTCCAGGTGATGAATAACC	0.284													17	86					0	0	0	0	A	16902261	G	A	16902261	3	1	92	1	0	0	0	0	1	0	0	0	396	1290	45	2	321	2	AGR3	7	16902261	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2956044	16902261	142236402	164	17928											
ABCB5	340273	broad.mit.edu	37	chr7	20762686	20762686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacaaaatgcaactaacatGggactttcagttatcatttc	15	12	5	9	0	2	0	2	0	0	0	3	1	2	1	0	1	3	2	0	1	5	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:20762686G>T	ENST00000404938.2	+	21	3121	c.2469G>T	c.(2467-2469)atG>atT	p.M823I	ABCB5_ENST00000258738.6_Missense_Mutation_p.M378I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	378					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAACTAACATGGGACTTTCAG	0.378													37	77					5.71845e-15	6.20458e-15	1	0	T	20762686	G	T	20762686	3	4	92	1	0	0	0	0	1	0	0	0	44	1348	47	4	2588	4	ABCB5	7	20762686	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	3860425	20762686	138375977	165	17929											
DNAH11	8701	broad.mit.edu	37	chr7	21599363	21599363	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctcctcaagcagaactaGatttctggatgatgaggaga	12	11	11	7	0	3	5	1	2	2	3	4	7	3	6	1	2	2	1	1	2	3	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:21599363G>C	ENST00000328843.6	+	4	866	c.835G>C	c.(835-837)Gat>Cat	p.D279H	DNAH11_ENST00000409508.3_Missense_Mutation_p.D279H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	279	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGCAGAACTAGATTTCTGGAT	0.358									Kartagener syndrome				7	8					0	0	0	0	C	21599363	G	C	21599363	3	2	92	1	0	0	0	0	1	0	0	0	4636	942	33	2	849	2	DNAH11	7	21599363	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	836677	21599363	137539300	166	17930											
BBS9	27241	broad.mit.edu	37	chr7	33388766	33388766	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattgacttgtgatcagttCacctttgaatttatgagtaa	12	16	8	5	0	2	4	2	4	0	0	2	5	2	4	1	0	0	2	1	0	4	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:33388766C>T	ENST00000242067.6	+	13	1937	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	BBS9_ENST00000355070.2_Silent_p.F472F|BBS9_ENST00000354265.4_Silent_p.F472F|BBS9_ENST00000350941.3_Silent_p.F472F|BBS9_ENST00000396127.2_Silent_p.F472F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	472					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTGATCAGTTCACCTTTGAAT	0.333									Bardet-Biedl syndrome				14	76					0	0	0	0	T	33388766	C	T	33388766	2	4	92	1	0	0	0	0	0	0	0	1	1346	825	29	2		2	BBS9	7	33388766	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	11789403	33388766	125749897	167	17931											
BMPER	168667	broad.mit.edu	37	chr7	34118611	34118611	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccaggtgctggtgaagaaCgacgcccgccggacacgctc	8	6	13	14	5	0	2	0	1	0	1	2	4	1	3	3	3	2	2	3	3	2	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:34118611C>G	ENST00000297161.2	+	13	1595	c.1221C>G	c.(1219-1221)aaC>aaG	p.N407K	BMPER_ENST00000426693.1_Missense_Mutation_p.N407K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	407	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.N407N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGGTGAAGAACGACGCCCGCC	0.607													49	88					0	0	0	0	G	34118611	C	G	34118611	3	3	92	1	0	0	0	0	1	0	0	0	1473	535	19	3	1267	3	BMPER	7	34118611	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	729845	34118611	125020052	168	17932											
VPS41	27072	broad.mit.edu	37	chr7	38812139	38812139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttcatatttcttcttttCaaggagccagtcaatgtgat	10	17	6	8	0	5	1	3	1	2	0	5	2	5	2	1	1	2	0	1	1	4	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:38812139C>G	ENST00000310301.4	-	13	1165	c.1111G>C	c.(1111-1113)Gaa>Caa	p.E371Q	VPS41_ENST00000395969.2_Missense_Mutation_p.E346Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	371					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TTCTTCTTTTCAAGGAGCCAG	0.363													9	40					0	0	0	0	G	38812139	C	G	38812139	3	3	92	1	0	0	0	0	1	0	0	0	17306	835	29	2	1521	2	VPS41	7	38812139	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	4693528	38812139	120326524	169	17933											
TNS3	64759	broad.mit.edu	37	chr7	47319949	47319949	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtaatgcctccggaagaaGagcctgttgggacatggggg	9	7	18	7	1	0	2	0	0	0	2	1	4	1	4	3	5	2	2	3	5	3	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:47319949G>C	ENST00000398879.1	-	29	4467	c.4101C>G	c.(4099-4101)ctC>ctG	p.L1367L	TNS3_ENST00000311160.9_Silent_p.L1367L|TNS3_ENST00000355730.3_Silent_p.L1127L			Q68CZ2	TENS3_HUMAN	tensin 3	1367						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TCCGGAAGAAGAGCCTGTTGG	0.502													8	37					0	0	0	0	C	47319949	G	C	47319949	2	2	92	1	0	0	0	0	0	0	0	1	16438	929	33	2		2	TNS3	7	47319949	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	8507810	47319949	111818714	170	17934											
IKZF1	10320	broad.mit.edu	37	chr7	50450284	50450284	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcggggcctcattcacccaGaagggcaacctgctccggca	8	6	12	15	2	2	1	2	0	0	1	3	1	3	1	4	4	3	3	4	4	2	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:50450284G>A	ENST00000331340.3	+	5	623	c.468G>A	c.(466-468)caG>caA	p.Q156Q	IKZF1_ENST00000359197.5_Silent_p.Q156Q|IKZF1_ENST00000343574.5_Silent_p.Q69Q|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Silent_p.Q69Q|IKZF1_ENST00000440768.2_Silent_p.Q156Q|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000439701.1_Silent_p.Q156Q|IKZF1_ENST00000357364.4_Silent_p.Q156Q	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	156	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CATTCACCCAGAAGGGCAACC	0.612			"D,T"	BCL6	"ALL, DLBCL"								5	25					0	0	0	0	A	50450284	G	A	50450284	2	1	92	1	0	0	0	0	0	0	0	1	7667	933	33	2		2	IKZF1	7	50450284	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	3130335	50450284	108688379	171	17935											
COBL	23242	broad.mit.edu	37	chr7	51261114	51261114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaggcttaaccttctcttCaggaactttttctttcagaa	10	15	5	11	0	4	1	2	0	2	1	5	2	4	2	2	2	2	1	2	2	3	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:51261114C>T	ENST00000395542.2	-	3	602	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	COBL_ENST00000395540.2_Missense_Mutation_p.E140K|COBL_ENST00000441453.1_Missense_Mutation_p.E140K|COBL_ENST00000265136.7_Missense_Mutation_p.E140K			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	140										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACCTTCTCTTCAGGAACTTTT	0.453													14	77					0	0	0	0	T	51261114	C	T	51261114	3	4	92	1	0	0	0	0	1	0	0	0	3683	835	29	2	3411	2	COBL	7	51261114	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	810830	51261114	107877549	172	17936											
AUTS2	26053	broad.mit.edu	37	chr7	70252204	70252204	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccatttcagcacccaactCaatgttcggccacaaggatg	12	8	7	14	1	2	0	2	0	0	0	3	1	2	1	3	2	2	2	3	2	3	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:70252204C>G	ENST00000342771.4	+	18	2639	c.2318C>G	c.(2317-2319)tCa>tGa	p.S773*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.S749*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	773										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCACCCAACTCAATGTTCGGC	0.473													7	21					0	0	0	0	G	70252204	C	G	70252204	4	3	92	1	0	0	0	0	0	1	0	0	1229	838	29	2	2533	2	AUTS2	7	70252204	Nonsense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	18991090	70252204	88886459	173	17937											
SEMA3A	10371	broad.mit.edu	37	chr7	83610791	83610791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttgaaccaatatatagttGttgctgtggaaagagtttac	12	14	10	5	1	0	2	0	1	0	1	0	3	0	3	1	1	3	5	1	1	7	8			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:83610791G>T	ENST00000265362.3	-	14	1812	c.1498C>A	c.(1498-1500)Caa>Aaa	p.Q500K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.Q500K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	500	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATATATAGTTGTTGCTGTGGA	0.418													4	9					2.56e-06	2.69328e-06	1	0	T	83610791	G	T	83610791	3	4	92	1	0	0	0	0	1	0	0	0	14111	1386	48	4	833	4	SEMA3A	7	83610791	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	13358587	83610791	75527872	174	17938											
MTERF	7978	broad.mit.edu	37	chr7	91503289	91503289	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagctcctggaccacatatCagaaccagcagttcctcact	11	9	6	15	0	3	1	3	0	0	1	5	2	5	2	4	1	3	3	4	1	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:91503289C>G	ENST00000419292.1	-	2	835	c.759G>C	c.(757-759)ctG>ctC	p.L253L	MTERF_ENST00000406735.2_Silent_p.L253L|MTERF_ENST00000351870.3_Silent_p.L273L|CTB-104F4.2_ENST00000454222.1_RNA			Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	273					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			GACCACATATCAGAACCAGCA	0.413													10	46					0	0	0	0	G	91503289	C	G	91503289	2	3	92	1	0	0	0	0	0	0	0	1	9988	813	29	2		2	MTERF	7	91503289	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	7892498	91503289	67635374	175	17939											
CALCR	799	broad.mit.edu	37	chr7	93098029	93098029	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgtgagtgtacttacctGaaaaacacgaaaatccccag	14	9	8	10	1	0	2	0	2	0	0	1	3	1	2	3	0	4	2	3	0	6	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:93098029G>A	ENST00000359558.2	-	8	872	c.573C>T	c.(571-573)ttC>ttT	p.F191F	CALCR_ENST00000421592.1_Silent_p.F173F|CALCR_ENST00000426151.1_Silent_p.F173F|CALCR_ENST00000394441.1_Silent_p.F173F|CALCR_ENST00000360249.4_Silent_p.F173F	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	173					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GTACTTACCTGAAAAACACGA	0.418													6	38					0	0	0	0	A	93098029	G	A	93098029	2	1	92	1	0	0	0	0	0	0	0	1	2604	1281	45	2		2	CALCR	7	93098029	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1594740	93098029	66040634	176	17940											
COL1A2	1278	broad.mit.edu	37	chr7	94052411	94052411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctggtgagaagggtccctCtggagaggctggtactgctg	6	9	17	9	1	1	2	0	1	1	2	2	4	2	2	1	5	2	4	1	5	2	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:94052411C>T	ENST00000297268.6	+	40	3017	c.2546C>T	c.(2545-2547)tCt>tTt	p.S849F		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	849			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAGGGTCCCTCTGGAGAGGCT	0.507										HNSCC(75;0.22)			15	91					0	0	0	0	T	94052411	C	T	94052411	3	4	92	1	0	0	0	0	1	0	0	0	3708	913	32	2	2704	2	COL1A2	7	94052411	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	954382	94052411	65086252	177	17941											
C7orf43	55262	broad.mit.edu	37	chr7	99753354	99753354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggtgagcgcgctgcccttCcgggaaaagccaaggttgtt	9	8	14	10	3	0	1	0	1	0	0	1	2	1	2	3	3	3	3	3	3	4	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:99753354C>T	ENST00000316937.3	-	9	1520	c.1335G>A	c.(1333-1335)cgG>cgA	p.R445R	C7orf43_ENST00000419841.1_Silent_p.R213R|C7orf43_ENST00000394035.2_Silent_p.R21R|C7orf43_ENST00000457641.1_Silent_p.R176R	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	445										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCTGCCCTTCCGGGAAAAGC	0.657													30	120					0	0	0	0	T	99753354	C	T	99753354	2	4	92	1	0	0	0	0	0	0	0	1	2416	842	30	2		2	C7orf43	7	99753354	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	5700943	99753354	59385309	178	17942											
PSMC2	5701	broad.mit.edu	37	chr7	103006550	103006550	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatggttcgtgaactctttGaaatggccagaacaaaaaaa	17	9	9	6	1	1	3	0	2	1	1	2	4	1	3	1	2	2	1	1	2	7	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:103006550G>C	ENST00000435765.1	+	10	1195	c.784G>C	c.(784-786)Gaa>Caa	p.E262Q	SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.E125Q|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.E262Q|SLC26A5_ENST00000339444.6_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	262					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TGAACTCTTTGAAATGGCCAG	0.323													40	51					0	0	0	0	C	103006550	G	C	103006550	3	2	92	1	0	0	0	0	1	0	0	0	12765	1291	45	2	818	2	PSMC2	7	103006550	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	3253196	103006550	56132113	179	17943											
RELN	5649	broad.mit.edu	37	chr7	103155675	103155675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtcaaaggcgatcctcccGacagggccggcatctgcagg	9	6	13	13	3	2	0	1	0	1	0	4	2	4	0	3	4	1	2	3	4	1	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:103155675G>A	ENST00000428762.1	-	50	8235	c.8076C>T	c.(8074-8076)gtC>gtT	p.V2692V	RELN_ENST00000424685.2_Silent_p.V2692V|RELN_ENST00000343529.5_Silent_p.V2692V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2692					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGATCCTCCCGACAGGGCCGG	0.517													6	39					0	0	0	0	A	103155675	G	A	103155675	2	1	92	1	0	0	0	0	0	0	0	1	13302	1045	37	1		1	RELN	7	103155675	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	149125	103155675	55982988	180	17944											
EXOC4	60412	broad.mit.edu	37	chr7	133059592	133059592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgccactaggttgcttctaGaactgctggagttactgttt	8	15	10	8	0	1	1	0	0	1	1	1	2	1	2	1	2	5	5	1	2	4	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:133059592G>A	ENST00000253861.4	+	7	1047	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	EXOC4_ENST00000539845.1_Missense_Mutation_p.E239K|EXOC4_ENST00000393161.2_Missense_Mutation_p.E340K	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	340					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTTGCTTCTAGAACTGCTGGA	0.423													17	39					0	0	0	0	A	133059592	G	A	133059592	3	1	92	1	0	0	0	0	1	0	0	0	5343	943	33	2	1044	2	EXOC4	7	133059592	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	29903917	133059592	26079071	181	17945											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138764323	138764323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctaggtgatgatatttctCtgtgaccgctgctagtgctt	6	16	10	9	1	1	3	0	3	1	0	3	3	2	3	2	1	2	3	2	1	3	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:138764323C>G	ENST00000242351.5	-	4	1680	c.1364G>C	c.(1363-1365)aGa>aCa	p.R455T	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.R455T|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.R455T	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	455					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGATATTTCTCTGTGACCGCT	0.468													24	41					0	0	0	0	G	138764323	C	G	138764323	3	3	92	1	0	0	0	0	1	0	0	0	17670	913	32	2	1388	2	ZC3HAV1	7	138764323	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	5704731	138764323	20374340	182	17946											
ZNF212	7988	broad.mit.edu	37	chr7	148947893	148947893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taactatgagacactggtctCtctgagtgagtagcagtttt	10	14	10	7	0	2	3	0	3	2	1	3	4	2	3	0	1	2	3	0	1	3	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:148947893C>G	ENST00000335870.2	+	3	664	c.536C>G	c.(535-537)tCt>tGt	p.S179C		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	179	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			ACACTGGTCTCTCTGAGTGAG	0.498													19	44					0	0	0	0	G	148947893	C	G	148947893	3	3	92	1	0	0	0	0	1	0	0	0	17863	913	32	2	546	2	ZNF212	7	148947893	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	10183570	148947893	10190770	183	17947											
SOX7	83595	broad.mit.edu	37	chr8	10683716	10683716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagattttggacttttcctCaaggctaaaagatttctttt	10	17	8	6	0	2	2	1	0	1	2	3	4	3	3	1	3	0	1	1	3	3	8			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:10683716C>T	ENST00000554914.1	-	5	430	c.340G>A	c.(340-342)Gag>Aag	p.E114K	PINX1_ENST00000314787.3_Missense_Mutation_p.E114K|PINX1_ENST00000426190.2_Missense_Mutation_p.E112K|PINX1_ENST00000519088.1_Missense_Mutation_p.E114K|SOX7_ENST00000553390.1_Missense_Mutation_p.E114K			Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	55					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GACTTTTCCTCAAGGCTAAAA	0.299													12	6					0	0	0	0	T	10683716	C	T	10683716	3	4	92	1	0	0	0	0	1	0	0	0	15044	835	29	2		2	SOX7	8	10683716	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08		10683716	135680306	184	17948											
SGCZ	137868	broad.mit.edu	37	chr8	14022158	14022158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaacagcaccctgccatCttcactggctctcacttcaa	12	9	5	15	0	4	1	3	0	2	1	5	1	4	1	2	1	3	2	2	1	3	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:14022158C>T	ENST00000382080.1	-	5	1193	c.478G>A	c.(478-480)Gat>Aat	p.D160N	SGCZ_ENST00000421524.2_Missense_Mutation_p.D113N|RP11-3G21.1_ENST00000527110.1_RNA	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	147					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACCCTGCCATCTTCACTGGCT	0.423													14	29					0	0	0	0	T	14022158	C	T	14022158	3	4	92	1	0	0	0	0	1	0	0	0	14291	913	32	2	476	2	SGCZ	8	14022158	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	3338442	14022158	132341864	185	17949											
NRG1	3084	broad.mit.edu	37	chr8	32505429	32505429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtgcgtgcctagaagctGagcgcctgagaggttgcctc	6	9	15	11	2	0	3	0	2	0	2	1	4	0	3	3	1	5	3	3	1	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:32505429G>A	ENST00000520502.2	+	1	193	c.193G>A	c.(193-195)Gag>Aag	p.E65K	NRG1_ENST00000520407.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000523079.1_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	276	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCTAGAAGCTGAGCGCCTGAG	0.617													10	21					0	0	0	0	A	32505429	G	A	32505429	3	1	92	1	0	0	0	0	1	0	0	0	10718	1291	45	2	1468	2	NRG1	8	32505429	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	18483271	32505429	113858593	186	17950											
RP1	6101	broad.mit.edu	37	chr8	55537868	55537868	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtatctgaaactgaggttCaagagaaaatgattggacag	16	10	11	4	0	2	4	1	3	1	1	2	6	2	5	0	2	1	2	0	2	6	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:55537868C>G	ENST00000220676.1	+	4	1574	c.1426C>G	c.(1426-1428)Caa>Gaa	p.Q476E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	476					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AACTGAGGTTCAAGAGAAAAT	0.388													18	45					0	0	0	0	G	55537868	C	G	55537868	3	3	92	1	0	0	0	0	1	0	0	0	13617	827	29	2	1436	2	RP1	8	55537868	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	23032439	55537868	90826154	187	17951											
RPS20	6224	broad.mit.edu	37	chr8	56985678	56985678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaatggtgacttccacctCaactcctggctcaatactga	10	11	7	13	0	2	2	2	2	0	0	4	2	4	2	3	2	3	2	3	2	4	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:56985678C>T	ENST00000519807.1	-	4	456	c.331G>A	c.(331-333)Gag>Aag	p.E111K	RPS20_ENST00000523936.1_3'UTR|RPS20_ENST00000524349.1_Missense_Mutation_p.E56K|RPS20_ENST00000521262.1_Missense_Mutation_p.E111K|RPS20_ENST00000520627.1_Missense_Mutation_p.E56K|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000009589.3_Missense_Mutation_p.E111K|RPS20_ENST00000519606.1_3'UTR	NM_001146227.1	NP_001139699.1	P60866	RS20_HUMAN	ribosomal protein S20	111					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			ACTTCCACCTCAACTCCTGGC	0.388													18	33					0	0	0	0	T	56985678	C	T	56985678	3	4	92	1	0	0	0	0	1	0	0	0	13717	835	29	2	132	2	RPS20	8	56985678	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1447810	56985678	89378344	188	17952											
RRS1	23212	broad.mit.edu	37	chr8	67341837	67341837	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgacaccaaagaatggctGattgaggtgcccggcaatgc	12	6	13	10	2	0	3	0	2	0	1	0	5	0	3	2	3	2	2	2	3	3	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:67341837G>A	ENST00000320270.2	+	1	575	c.471G>A	c.(469-471)ctG>ctA	p.L157L		NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	157					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus				kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AAGAATGGCTGATTGAGGTGC	0.637													13	19					0	0	0	0	A	67341837	G	A	67341837	2	1	92	1	0	0	0	0	0	0	0	1	13777	1277	45	2		2	RRS1	8	67341837	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	10356159	67341837	79022185	189	17953											
CA3	761	broad.mit.edu	37	chr8	86360296	86360296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagcctcctctccagtgctGagaacgagcccccagtgcct	7	7	11	16	1	1	1	0	1	1	1	3	4	2	2	6	1	5	1	6	1	1	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:86360296G>A	ENST00000285381.2	+	7	780	c.697G>A	c.(697-699)Gag>Aag	p.E233K	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	233					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTCCAGTGCTGAGAACGAGCC	0.542													14	17					0	0	0	0	A	86360296	G	A	86360296	3	1	92	1	0	0	0	0	1	0	0	0	2542	1291	45	2	723	2	CA3	8	86360296	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	19018459	86360296	60003726	190	17954											
SDC2	6383	broad.mit.edu	37	chr8	97620608	97620608	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagttcacctctctgactcaGaaaggaaaatggacccagcc	14	7	8	12	0	3	2	2	1	1	1	4	4	3	4	3	2	1	1	3	2	4	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:97620608G>C	ENST00000302190.4	+	4	1273	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	SDC2_ENST00000518385.1_Missense_Mutation_p.E82Q|SDC2_ENST00000519914.1_Missense_Mutation_p.E89Q|SDC2_ENST00000522911.1_Missense_Mutation_p.E89Q	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	118						integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	CTCTGACTCAGAAAGGAAAAT	0.418													7	28					0	0	0	0	C	97620608	G	C	97620608	3	2	92	1	0	0	0	0	1	0	0	0	14039	943	33	2	366	2	SDC2	8	97620608	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	11260312	97620608	48743414	191	17955											
SYBU	55638	broad.mit.edu	37	chr8	110655123	110655123	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccggggaattcggcttcgAgaaatctccttgtcatgatg	10	11	11	9	3	2	2	1	1	1	1	5	4	2	3	2	3	1	1	2	3	3	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:110655123A>G	ENST00000399066.3	-	1	781	c.54T>C	c.(52-54)tcT>tcC	p.S18S	SYBU_ENST00000424158.2_Silent_p.S26S|SYBU_ENST00000440310.1_Silent_p.S21S|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000433638.1_Silent_p.S21S|SYBU_ENST00000533171.1_Silent_p.S21S|SYBU_ENST00000528647.1_Silent_p.S20S|SYBU_ENST00000419099.1_Silent_p.S20S|SYBU_ENST00000446070.2_Silent_p.S20S|SYBU_ENST00000408908.2_Silent_p.S21S|SYBU_ENST00000422135.1_Silent_p.S21S|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000276646.9_Silent_p.S21S|SYBU_ENST00000533895.1_Silent_p.S20S|SYBU_ENST00000532779.1_Intron	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	21	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TTCGGCTTCGAGAAATCTCCT	0.478													21	45					0	0	0	0	G	110655123	A	G	110655123	2	3	92	1	0	0	0	0	0	0	0	1	15517	291	11	5		5	SYBU	8	110655123	Silent	SNP	A	TCGA-CN-6011-01A-11D-1683-08	13034515	110655123	35708899	192	17956											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119945204	119945204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaaatccaggagggcagctCctatgtttcaagcagaactc	12	8	9	12	0	1	1	1	0	0	1	4	2	3	2	3	2	3	4	3	2	4	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:119945204C>T	ENST00000297350.4	-	2	744	c.366G>A	c.(364-366)agG>agA	p.R122R		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	122					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GAGGGCAGCTCCTATGTTTCA	0.493													11	31					0	0	0	0	T	119945204	C	T	119945204	2	4	92	1	0	0	0	0	0	0	0	1	16379	854	30	2		2	TNFRSF11B	8	119945204	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	9290081	119945204	26418818	193	17957											
OC90	729330	broad.mit.edu	37	chr8	133041345	133041345	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtatgatccacacacacCaccggtgaccaaggaagcct	12	5	10	14	2	0	2	0	2	0	0	1	3	1	3	5	3	1	1	5	3	3	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:133041345C>A	ENST00000262283.5	-	17	1848	c.1749G>T	c.(1747-1749)gtG>gtT	p.V583V	OC90_ENST00000603859.1_Silent_p.V371V|OC90_ENST00000254627.3_Silent_p.V371V|OC90_ENST00000443356.2_Silent_p.V387V			Q02509	OC90_HUMAN	otoconin 90	387					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCACACACACCACCGGTGACC	0.512													38	28					4.14481e-20	4.53777e-20	1	0	A	133041345	C	A	133041345	2	1	92	1	0	0	0	0	0	0	0	1	10885	581	21	4		4	OC90	8	133041345	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	13096141	133041345	13322677	194	17958											
TOP1MT	116447	broad.mit.edu	37	chr8	144413487	144413487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtctccacttcaccccgtCttcgtgcttctccttctccc	2	15	4	20	2	5	0	1	0	4	0	9	0	5	0	5	0	1	1	5	0	0	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:144413487C>T	ENST00000329245.4	-	2	179	c.145G>A	c.(145-147)Gac>Aac	p.D49N	TOP1MT_ENST00000519148.1_5'UTR|TOP1MT_ENST00000523676.1_5'UTR|TOP1MT_ENST00000521193.1_5'UTR	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	49					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TTCACCCCGTCTTCGTGCTTC	0.607													35	17					0	0	0	0	T	144413487	C	T	144413487	3	4	92	1	0	0	0	0	1	0	0	0	16459	913	32	2	1712	2	TOP1MT	8	144413487	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	11372142	144413487	1950535	195	17959											
ZNF251	90987	broad.mit.edu	37	chr8	145948062	145948062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggctctggctaaagcctCttccacattcattacacttg	8	12	9	12	0	3	0	1	0	2	0	4	0	4	0	2	3	2	2	2	3	3	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:145948062C>T	ENST00000292562.7	-	5	1258	c.983G>A	c.(982-984)aGa>aAa	p.R328K	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GCTAAAGCCTCTTCCACATTC	0.488													17	11					0	0	0	0	T	145948062	C	T	145948062	3	4	92	1	0	0	0	0	1	0	0	0	17891	913	32	2	1036	2	ZNF251	8	145948062	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1534575	145948062	415960	196	17960											
ZNF251	90987	broad.mit.edu	37	chr8	145948232	145948232	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaattgagtccaaaagttttCccacattcatcacatttaaa	15	13	4	9	0	2	1	2	1	0	0	4	2	4	1	2	0	0	1	2	0	5	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:145948232C>T	ENST00000292562.7	-	5	1088	c.813G>A	c.(811-813)ggG>ggA	p.G271G	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CAAAAGTTTTCCCACATTCAT	0.453													26	21					0	0	0	0	T	145948232	C	T	145948232	2	4	92	1	0	0	0	0	0	0	0	1	17891	842	30	2		2	ZNF251	8	145948232	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	170	145948232	415790	197	17961											
ZNF16	7564	broad.mit.edu	37	chr8	146157372	146157372	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggctttcccacattcgctGcactggtaagctttctcact	8	13	7	13	1	1	0	1	0	1	0	4	0	2	0	1	2	2	5	1	2	2	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:146157372G>A	ENST00000276816.4	-	4	987	c.801C>T	c.(799-801)tgC>tgT	p.C267C	ZNF16_ENST00000394909.2_Silent_p.C267C	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CACATTCGCTGCACTGGTAAG	0.453													4	94					0	0	0	0	A	146157372	G	A	146157372	2	1	92	1	0	0	0	0	0	0	0	1	17833	1311	46	4		4	ZNF16	8	146157372	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	209140	146157372	206650	198	17962											
KIAA2026	158358	broad.mit.edu	37	chr9	6007497	6007497	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgcagaaagggggcggtGaggccccggtgcttctcctg	5	7	18	11	2	1	2	0	1	1	1	2	2	1	2	3	6	2	3	3	6	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:6007497G>A	ENST00000399933.3	-	1	290	c.291C>T	c.(289-291)ctC>ctT	p.L97L	KIAA2026_ENST00000381461.2_Silent_p.L97L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	97										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGGGGGCGGTGAGGCCCCGGT	0.716													11	60					0	0	0	0	A	6007497	G	A	6007497	2	1	92	1	0	0	0	0	0	0	0	1	8321	1277	45	2		2	KIAA2026	9	6007497	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08		6007497	135205934	199	17963											
BNC2	54796	broad.mit.edu	37	chr9	16436013	16436013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtttgggctccgaagactCagactcgttctcatagtccc	8	11	9	13	2	2	2	2	0	1	2	6	3	4	2	2	1	0	3	2	1	2	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:16436013C>G	ENST00000380672.4	-	6	2236	c.2179G>C	c.(2179-2181)Gag>Cag	p.E727Q	BNC2_ENST00000380666.2_Missense_Mutation_p.E727Q|BNC2_ENST00000380667.2_Missense_Mutation_p.E660Q|BNC2_ENST00000545497.1_Missense_Mutation_p.E632Q	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	727					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCCGAAGACTCAGACTCGTTC	0.512													155	44					0	0	0	0	G	16436013	C	G	16436013	3	3	92	1	0	0	0	0	1	0	0	0	1480	835	29	2	1128	2	BNC2	9	16436013	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	10428516	16436013	124777418	200	17964											
HAUS6	54801	broad.mit.edu	37	chr9	19058235	19058235	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttcccttttcttggaaaGagatttcttcagagcctcgt	7	17	7	10	1	4	2	1	0	3	2	6	4	5	3	2	1	1	0	2	1	1	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:19058235G>C	ENST00000380502.3	-	16	2997	c.2530C>G	c.(2530-2532)Ctt>Gtt	p.L844V	HAUS6_ENST00000380496.1_Missense_Mutation_p.L708V	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	844					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCTTGGAAAGAGATTTCTTC	0.433													29	353					0	0	0	0	C	19058235	G	C	19058235	3	2	92	1	0	0	0	0	1	0	0	0	7020	942	33	2	345	2	HAUS6	9	19058235	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2622222	19058235	122155196	201	17965											
PIGO	84720	broad.mit.edu	37	chr9	35092757	35092757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagtaggtatgaagaaatCgggacacctggcagagaaaa	16	6	13	6	1	0	4	0	2	0	2	1	6	0	5	1	3	0	3	1	3	6	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:35092757C>T	ENST00000378617.3	-	7	1521	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	PIGO_ENST00000361778.2_Missense_Mutation_p.R376Q|PIGO_ENST00000341666.3_Missense_Mutation_p.R376Q|PIGO_ENST00000298004.5_Missense_Mutation_p.R376Q	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	376					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATGAAGAAATCGGGACACCTG	0.512													25	17					0	0	0	0	T	35092757	C	T	35092757	3	4	92	1	0	0	0	0	1	0	0	0	11966	884	31	1	2162	1	PIGO	9	35092757	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	16034522	35092757	106120674	202	17966											
TMEM2	23670	broad.mit.edu	37	chr9	74347373	74347373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caatattccgggtaagaattCcaacctcagctctcatgtct	11	12	6	12	1	3	1	2	0	2	1	6	1	5	1	3	1	2	2	3	1	5	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:74347373C>G	ENST00000377044.4	-	7	1996	c.1457G>C	c.(1456-1458)gGa>gCa	p.G486A	TMEM2_ENST00000377066.5_Missense_Mutation_p.G423A	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	486						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGTAAGAATTCCAACCTCAGC	0.428													21	54					0	0	0	0	G	74347373	C	G	74347373	3	3	92	1	0	0	0	0	1	0	0	0	16215	855	30	2	2766	2	TMEM2	9	74347373	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	39254616	74347373	66866058	203	17967											
SECISBP2	79048	broad.mit.edu	37	chr9	91963111	91963111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtgatgaccagtttcccGagcaggcagagctgtcaggt	8	9	15	9	1	1	3	1	2	0	1	2	4	2	3	2	3	2	4	2	3	0	1	rs147681365		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:91963111G>A	ENST00000375807.3	+	12	1791	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	SECISBP2_ENST00000534113.2_Missense_Mutation_p.E506K|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E501K	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	574					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCAGTTTCCCGAGCAGGCAGA	0.463													19	71					0	0	0	0	A	91963111	G	A	91963111	3	1	92	1	0	0	0	0	1	0	0	0	14093	1059	37	1	1766	1	SECISBP2	9	91963111	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	17615738	91963111	49250320	204	17968											
SEMA4D	10507	broad.mit.edu	37	chr9	92003801	92003801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttacagctgtggggtgaaGagtgcatagaacacaggcac	13	7	13	8	0	0	3	0	1	0	2	0	3	0	3	0	3	4	3	0	3	4	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:92003801G>A	ENST00000450295.1	-	10	1712	c.936C>T	c.(934-936)ctC>ctT	p.L312L	SEMA4D_ENST00000343780.4_Silent_p.L312L|SEMA4D_ENST00000422704.2_Silent_p.L312L|SEMA4D_ENST00000356444.2_Silent_p.L312L|SEMA4D_ENST00000438547.2_Silent_p.L312L|SEMA4D_ENST00000420987.1_Silent_p.L312L|SEMA4D_ENST00000455551.2_Silent_p.L312L|SEMA4D_ENST00000339861.4_Silent_p.L312L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	312	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GTGGGGTGAAGAGTGCATAGA	0.617													26	95					0	0	0	0	A	92003801	G	A	92003801	2	1	92	1	0	0	0	0	0	0	0	1	14121	929	33	2		2	SEMA4D	9	92003801	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	40690	92003801	49209630	205	17969											
SEMA4D	10507	broad.mit.edu	37	chr9	92017921	92017921	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctcatgaaactgcacCaggtgcacctctgtgggatg	8	10	12	11	0	3	1	1	1	2	0	3	2	3	2	2	3	3	3	2	3	1	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:92017921C>T	ENST00000450295.1	-	4	893	c.117G>A	c.(115-117)ctG>ctA	p.L39L	SEMA4D_ENST00000343780.4_Silent_p.L39L|SEMA4D_ENST00000422704.2_Silent_p.L39L|SEMA4D_ENST00000356444.2_Silent_p.L39L|SEMA4D_ENST00000438547.2_Silent_p.L39L|SEMA4D_ENST00000420987.1_Silent_p.L39L|SEMA4D_ENST00000455551.2_Silent_p.L39L|SEMA4D_ENST00000339861.4_Silent_p.L39L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	39	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GAAACTGCACCAGGTGCACCT	0.547													10	48					0	0	0	0	T	92017921	C	T	92017921	2	4	92	1	0	0	0	0	0	0	0	1	14121	581	21	4		4	SEMA4D	9	92017921	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	14120	92017921	49195510	206	17970											
SYK	6850	broad.mit.edu	37	chr9	93650072	93650072	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcaagtggtacgctccGgaatgcatcaactactacaa	12	9	8	12	2	2	0	2	0	0	0	3	1	3	1	2	2	5	3	2	2	7	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:93650072G>A	ENST00000375754.4	+	12	1771	c.1623G>A	c.(1621-1623)ccG>ccA	p.P541P	SYK_ENST00000375751.4_Silent_p.P518P|SYK_ENST00000375746.1_Silent_p.P541P|SYK_ENST00000375747.1_Silent_p.P518P	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	541	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGTACGCTCCGGAATGCATCA	0.483			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								7	164					0	0	0	0	A	93650072	G	A	93650072	2	1	92	1	0	0	0	0	0	0	0	1	15529	1103	39	1		1	SYK	9	93650072	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1632151	93650072	47563359	207	17971											
NOL8	55035	broad.mit.edu	37	chr9	95062221	95062221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagtaacatcttcctcttCtgaactgctgtcttgtaaac	9	16	5	11	0	5	1	1	1	4	0	6	1	6	1	1	0	4	3	1	0	4	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:95062221C>G	ENST00000545558.1	-	14	3745	c.3253G>C	c.(3253-3255)Gaa>Caa	p.E1085Q	NOL8_ENST00000535387.1_Missense_Mutation_p.E1047Q|NOL8_ENST00000542053.1_Missense_Mutation_p.E1017Q|NOL8_ENST00000442668.2_Missense_Mutation_p.E1085Q|NOL8_ENST00000358855.4_Missense_Mutation_p.E1017Q			Q76FK4	NOL8_HUMAN	nucleolar protein 8	1085					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTTCCTCTTCTGAACTGCTG	0.388													57	185					0	0	0	0	G	95062221	C	G	95062221	3	3	92	1	0	0	0	0	1	0	0	0	10597	922	32	2	266	2	NOL8	9	95062221	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1412149	95062221	46151210	208	17972											
MURC	347273	broad.mit.edu	37	chr9	103340680	103340680	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catagcaatacagggcatatCattaacaaattgtttgagaa	17	11	7	6	0	1	1	1	1	0	1	1	2	1	1	0	1	3	3	0	1	7	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:103340680C>T	ENST00000307584.5	+	1	320	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	85					cell differentiation|muscle organ development|transcription, DNA-dependent			p.I85M(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				CAGGGCATATCATTAACAAAT	0.388													25	67					0	0	0	0	T	103340680	C	T	103340680	2	4	92	1	0	0	0	0	0	0	0	1	10057	816	29	2		2	MURC	9	103340680	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	8278459	103340680	37872751	209	17973											
ACTL7B	10880	broad.mit.edu	37	chr9	111617356	111617356	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatagtgatgagtttgccGtccgggagctcgtagtccac	8	10	12	11	3	0	2	0	2	0	0	3	3	2	3	4	1	2	3	4	1	3	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:111617356G>A	ENST00000374667.3	-	1	1883	c.855C>T	c.(853-855)gaC>gaT	p.D285D		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	285						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.D285E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGAGTTTGCCGTCCGGGAGCT	0.642													78	30					0	0	0	0	A	111617356	G	A	111617356	2	1	92	1	0	0	0	0	0	0	0	1	201	1136	40	1		1	ACTL7B	9	111617356	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	8276676	111617356	29596075	210	17974											
OR2K2	26248	broad.mit.edu	37	chr9	114090514	114090514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaacaaatatccatgaaaGagagatttccaaggaataag	19	9	8	5	0	0	3	0	1	0	2	2	5	2	4	2	1	1	1	2	1	7	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:114090514G>C	ENST00000374428.1	-	1	286	c.287C>G	c.(286-288)tCt>tGt	p.S96C	OR2K2_ENST00000302681.1_Missense_Mutation_p.S67C			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S67C(1)|p.S96C(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						ATCCATGAAAGAGAGATTTCC	0.418													25	44					0	0	0	0	C	114090514	G	C	114090514	3	2	92	1	0	0	0	0	1	0	0	0	11076	942	33	2	753	2	OR2K2	9	114090514	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2473158	114090514	27122917	211	17975											
ALAD	210	broad.mit.edu	37	chr9	116152945	116152945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcccggaatgctccgttttCactcaggagcccttcaggac	8	9	10	14	2	3	0	3	0	0	0	4	3	4	3	3	3	3	2	3	3	1	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:116152945C>T	ENST00000409155.3	-	6	605	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	ALAD_ENST00000277315.5_Missense_Mutation_p.E120K	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	137					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GCTCCGTTTTCACTCAGGAGC	0.622													9	19					0	0	0	0	T	116152945	C	T	116152945	3	4	92	1	0	0	0	0	1	0	0	0	483	835	29	2	611	2	ALAD	9	116152945	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	2062431	116152945	25060486	212	17976											
ZNF618	114991	broad.mit.edu	37	chr9	116794974	116794974	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaagcacaaaaccacttTgaagagacgaacagcagttc	17	5	9	10	1	0	2	0	1	0	1	1	4	0	2	1	1	4	4	1	1	5	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:116794974T>G	ENST00000288466.7	+	11	954	c.855T>G	c.(853-855)ttT>ttG	p.F285L	ZNF618_ENST00000374126.5_Missense_Mutation_p.F378L|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AAAACCACTTTGAAGAGACGA	0.562													39	71					0	0	0	0	G	116794974	T	G	116794974	3	3	92	1	0	0	0	0	1	0	0	0	18137	1809	63	5	897	5	ZNF618	9	116794974	Missense_Mutation	SNP	T	TCGA-CN-6011-01A-11D-1683-08	642029	116794974	24418457	213	17977											
PBX3	5090	broad.mit.edu	37	chr9	128678148	128678148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattgaacactcagattacaGagccaaattgacccagatca	16	9	6	10	0	2	5	2	2	0	3	2	5	2	5	2	0	3	0	2	0	4	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:128678148G>A	ENST00000373487.4	+	3	538	c.458G>A	c.(457-459)aGa>aAa	p.R153K	PBX3_ENST00000373489.5_Missense_Mutation_p.R153K|PBX3_ENST00000342287.5_Missense_Mutation_p.R153K|PBX3_ENST00000447726.2_Missense_Mutation_p.R78K|PBX3_ENST00000373483.2_Intron|PBX3_ENST00000538998.1_3'UTR			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	153					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						TCAGATTACAGAGCCAAATTG	0.507													31	99					0	0	0	0	A	128678148	G	A	128678148	3	1	92	1	0	0	0	0	1	0	0	0	11565	942	33	2	468	2	PBX3	9	128678148	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	11883174	128678148	12535283	214	17978											
GARNL3	84253	broad.mit.edu	37	chr9	130119513	130119513	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaggagatctgtctgtctGactctcccatggtgatgacc	8	11	10	12	0	4	4	0	3	4	1	5	5	4	4	2	2	0	0	2	2	0	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:130119513G>C	ENST00000373387.4	+	21	2303	c.1951G>C	c.(1951-1953)Gac>Cac	p.D651H	GARNL3_ENST00000314904.5_Missense_Mutation_p.D651H|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.D629H	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	651	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CTGTCTGTCTGACTCTCCCAT	0.522													43	45					0	0	0	0	C	130119513	G	C	130119513	3	2	92	1	0	0	0	0	1	0	0	0	6290	1290	45	2	2033	2	GARNL3	9	130119513	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1441365	130119513	11093918	215	17979											
GARNL3	84253	broad.mit.edu	37	chr9	130119609	130119609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaatttgatgtggtgaatGagagcacaggagaagccttc	13	9	12	7	0	0	4	0	3	0	2	1	6	0	4	2	2	2	1	2	2	3	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:130119609G>C	ENST00000373387.4	+	21	2399	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q	GARNL3_ENST00000314904.5_Missense_Mutation_p.E683Q|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.E661Q	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	683	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TGTGGTGAATGAGAGCACAGG	0.507													23	27					0	0	0	0	C	130119609	G	C	130119609	3	2	92	1	0	0	0	0	1	0	0	0	6290	1291	45	2	2129	2	GARNL3	9	130119609	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	96	130119609	11093822	216	17980											
NUP214	8021	broad.mit.edu	37	chr9	134073419	134073419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacagtgaggtctcagcatCagcagcctcacttctagagg	10	9	11	11	0	4	3	3	2	2	1	5	3	4	3	1	2	3	2	1	2	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:134073419C>T	ENST00000359428.5	+	29	4682	c.4538C>T	c.(4537-4539)tCa>tTa	p.S1513L	NUP214_ENST00000483497.2_Missense_Mutation_p.S339L|NUP214_ENST00000411637.2_Missense_Mutation_p.S1503L|NUP214_ENST00000451030.1_Missense_Mutation_p.S1514L			P35658	NU214_HUMAN	nucleoporin 214kDa	1513	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTCTCAGCATCAGCAGCCTCA	0.552			T	"DEK, SET, ABL1"	"AML, T-ALL"								15	102					0	0	0	0	T	134073419	C	T	134073419	3	4	92	1	0	0	0	0	1	0	0	0	10833	838	29	2	4652	2	NUP214	9	134073419	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	3953810	134073419	7140012	217	17981											
NOTCH1	4851	broad.mit.edu	37	chr9	139401080	139401080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagccattgatgacggactCgcagcggcgccctaggggta	8	6	15	12	4	0	2	0	2	0	0	1	3	0	3	2	4	2	3	2	4	2	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:139401080C>T	ENST00000277541.6	-	24	3988	c.3913G>A	c.(3913-3915)Gag>Aag	p.E1305K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1305	EGF-like 33.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGACGGACTCGCAGCGGCGC	0.692			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			9	11					0	0	0	0	T	139401080	C	T	139401080	3	4	92	1	0	0	0	0	1	0	0	0	10617	893	31	1	3798	1	NOTCH1	9	139401080	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	5327661	139401080	1812351	218	17982											
AKR1C4	1109	broad.mit.edu	37	chr10	5254582	5254582	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttgatcatctaaaggtaGaatgtcatccttacctcaac	12	13	5	11	0	5	2	3	1	2	1	6	2	6	2	2	1	2	1	2	1	6	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:5254582G>C	ENST00000380448.1	+	8	827	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q	AKR1C4_ENST00000263126.1_Missense_Mutation_p.E192Q			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	192					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	TCTAAAGGTAGAATGTCATCC	0.348													11	30					0	0	0	0	C	5254582	G	C	5254582	3	2	92	1	0	0	0	0	1	0	0	0	472	943	33	2	596	2	AKR1C4	10	5254582	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08		5254582	130280165	219	17983											
GJD4	219770	broad.mit.edu	37	chr10	35896723	35896723	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctccgccgtcttcagcgtCtatgtcctgcaccgaggagc	5	9	10	17	4	3	0	1	0	2	0	5	2	5	1	5	1	3	1	5	1	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:35896723C>G	ENST00000321660.1	+	2	440	c.282C>G	c.(280-282)gtC>gtG	p.V94V		NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	94					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCTTCAGCGTCTATGTCCTGC	0.716													22	20					0	0	0	0	G	35896723	C	G	35896723	2	3	92	1	0	0	0	0	0	0	0	1	6470	900	32	2		2	GJD4	10	35896723	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	30642141	35896723	99638024	220	17984											
PCDH15	65217	broad.mit.edu	37	chr10	55912906	55912906	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcttggaccgtgagtgCgtaagtccgcccgactatca	7	9	12	13	5	1	1	1	1	0	0	2	3	2	2	3	1	2	3	3	1	2	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:55912906C>A	ENST00000373965.2	-	15	2153	c.1759G>T	c.(1759-1761)Gca>Tca	p.A587S	PCDH15_ENST00000320301.6_Missense_Mutation_p.A580S|PCDH15_ENST00000409834.1_Missense_Mutation_p.A191S|PCDH15_ENST00000395430.1_Missense_Mutation_p.A580S|PCDH15_ENST00000395432.2_Missense_Mutation_p.A543S|PCDH15_ENST00000361849.3_Missense_Mutation_p.A580S|PCDH15_ENST00000395446.1_Missense_Mutation_p.A580S|PCDH15_ENST00000395433.1_Missense_Mutation_p.A558S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A580S|PCDH15_ENST00000373955.1_Missense_Mutation_p.A580S|PCDH15_ENST00000373957.3_Missense_Mutation_p.A558S|PCDH15_ENST00000395438.1_Missense_Mutation_p.A580S|PCDH15_ENST00000395445.1_Missense_Mutation_p.A587S|PCDH15_ENST00000414778.1_Missense_Mutation_p.A585S|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	580	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCGTGAGTGCGTAAGTCCGC	0.488										HNSCC(58;0.16)			12	31					0.000978159	0.00100723	1	0	A	55912906	C	A	55912906	3	1	92	1	0	0	0	0	1	0	0	0	11582	768	27	3	5828	3	PCDH15	10	55912906	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	20016183	55912906	79621841	221	17985											
BICC1	80114	broad.mit.edu	37	chr10	60272997	60272997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actccccagtgcccggctccGaggacgacttggtcgccggg	5	6	14	16	5	0	0	0	0	0	0	3	3	2	1	5	4	1	1	5	4	0	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:60272997G>A	ENST00000373886.3	+	1	98	c.94G>A	c.(94-96)Gag>Aag	p.E32K		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	32					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GCCCGGCTCCGAGGACGACTT	0.697													13	18					0	0	0	0	A	60272997	G	A	60272997	3	1	92	1	0	0	0	0	1	0	0	0	1432	1059	37	1	96	1	BICC1	10	60272997	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	4360091	60272997	75261750	222	17986											
PLAU	5328	broad.mit.edu	37	chr10	75672797	75672797	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccactgtccttcagcaaacGtaccatgcccacagatctga	11	8	7	15	1	2	2	1	1	1	1	3	2	3	2	4	0	4	2	4	0	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:75672797G>A	ENST00000446342.1	+	4	740	c.258G>A	c.(256-258)acG>acA	p.T86T	C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Silent_p.T67T|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Silent_p.T103T|C10orf55_ENST00000409178.1_Intron	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	103	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	TTCAGCAAACGTACCATGCCC	0.572													10	47					0	0	0	0	A	75672797	G	A	75672797	2	1	92	1	0	0	0	0	0	0	0	1	12094	1132	40	1		1	PLAU	10	75672797	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	15399800	75672797	59861950	223	17987											
SEMA4G	57715	broad.mit.edu	37	chr10	102743390	102743390	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacagctggcacctgatgtGagactgctctatgtgctagc	8	10	12	11	0	1	2	0	2	1	1	1	3	1	2	1	1	4	5	1	1	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:102743390G>C	ENST00000210633.3	+	14	2112	c.2034G>C	c.(2032-2034)gtG>gtC	p.V678V	MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Silent_p.V673V|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000342071.1_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	673					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CACCTGATGTGAGACTGCTCT	0.637													3	21					0	0	0	0	C	102743390	G	C	102743390	2	2	92	1	0	0	0	0	0	0	0	1	14123	1277	45	2		2	SEMA4G	10	102743390	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	27070593	102743390	32791357	224	17988											
PDCD11	22984	broad.mit.edu	37	chr10	105174042	105174042	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaggtctattattgaagcTcagtaccttagatatcatga	12	14	7	8	0	3	3	2	2	1	1	3	3	3	3	2	1	2	2	2	1	7	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:105174042T>C	ENST00000369797.3	+	11	1420	c.1326T>C	c.(1324-1326)gcT>gcC	p.A442A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	442					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTATTGAAGCTCAGTACCTTA	0.433													16	28					0	0	0	0	C	105174042	T	C	105174042	2	2	92	1	0	0	0	0	0	0	0	1	11688	1538	54	5		5	PDCD11	10	105174042	Silent	SNP	T	TCGA-CN-6011-01A-11D-1683-08	2430652	105174042	30360705	225	17989											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118202613	118202613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatccaagcctcatattttgGaacagacaagatcacccgta	14	10	6	11	1	2	2	2	0	0	2	3	3	3	3	3	1	2	1	3	1	6	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:118202613G>T	ENST00000369230.3	+	3	397	c.251G>T	c.(250-252)gGa>gTa	p.G84V		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	84					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCATATTTTGGAACAGACAAG	0.348													9	31					1.12685e-05	1.17785e-05	1	0	T	118202613	G	T	118202613	3	4	92	1	0	0	0	0	1	0	0	0	12224	1174	41	2	261	2	PNLIPRP3	10	118202613	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	13028571	118202613	17332134	226	17990											
LHPP	64077	broad.mit.edu	37	chr10	126172787	126172787	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagctggtggggcagcttCagaggctgggatttgacatc	8	9	16	8	0	1	3	1	1	0	2	2	4	1	4	0	5	2	4	0	5	0	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:126172787C>T	ENST00000368842.5	+	2	233	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	LHPP_ENST00000392757.4_Nonsense_Mutation_p.Q69*|LHPP_ENST00000368839.1_Nonsense_Mutation_p.Q69*	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	69					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GGGGCAGCTTCAGAGGCTGGG	0.627													13	51					0	0	0	0	T	126172787	C	T	126172787	4	4	92	1	0	0	0	0	0	1	0	0	8823	827	29	2	211	2	LHPP	10	126172787	Nonsense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	7970174	126172787	9361960	227	17991											
OR52K1	390036	broad.mit.edu	37	chr11	4510323	4510323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaacccatgtacctctttCtggccatgttggcaaccatt	9	13	7	12	0	2	1	0	1	2	0	2	1	2	1	4	2	3	3	4	2	3	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:4510323C>G	ENST00000307632.3	+	1	215	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTACCTCTTTCTGGCCATGTT	0.488													34	22					0	0	0	0	G	4510323	C	G	4510323	3	3	92	1	0	0	0	0	1	0	0	0	11194	912	32	2	195	2	OR52K1	11	4510323	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08		4510323	130496193	228	17992											
OR51A7	119687	broad.mit.edu	37	chr11	4929349	4929349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgctgtgctcaccttCtatgtgcccatcatcaccct	6	14	6	15	0	5	0	3	0	2	0	5	0	5	0	3	0	3	2	3	0	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:4929349C>A	ENST00000359350.4	+	1	750	c.750C>A	c.(748-750)ttC>ttA	p.F250L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTCACCTTCTATGTGCCCA	0.483													40	56					4.17593e-13	4.50073e-13	1	0	A	4929349	C	A	4929349	3	1	92	1	0	0	0	0	1	0	0	0	11159	912	32	2	752	2	OR51A7	11	4929349	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	419026	4929349	130077167	229	17993											
KCNA4	3739	broad.mit.edu	37	chr11	30034073	30034073	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccagaacccccgctaccttcGacagcagctgtggccgctgc	7	6	10	18	3	0	1	0	0	0	1	1	2	0	1	5	1	5	4	5	1	2	2	rs60942363		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:30034073G>C	ENST00000328224.6	-	2	1386	c.153C>G	c.(151-153)gtC>gtG	p.V51V		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	51						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CGCTACCTTCGACAGCAGCTG	0.677													14	16					0	0	0	0	C	30034073	G	C	30034073	2	2	92	1	0	0	0	0	0	0	0	1	8058	1045	37	3		3	KCNA4	11	30034073	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	25104724	30034073	104972443	230	17994											
TTC17	55761	broad.mit.edu	37	chr11	43411297	43411297	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaagacccagactgcatCaaagccaaggtgcccttagg	15	5	10	11	0	1	3	1	0	0	3	1	3	1	3	3	2	3	1	3	2	5	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:43411297C>G	ENST00000039989.4	+	3	359	c.345C>G	c.(343-345)atC>atG	p.I115M	TTC17_ENST00000299240.6_Missense_Mutation_p.I115M	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	115							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAGACTGCATCAAAGCCAAGG	0.398													27	134					0	0	0	0	G	43411297	C	G	43411297	3	3	92	1	0	0	0	0	1	0	0	0	16780	816	29	2	355	2	TTC17	11	43411297	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	13377224	43411297	91595219	231	17995											
OR4A16	81327	broad.mit.edu	37	chr11	55111514	55111514	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcaattatcacactcatgTtgaatcctttaatatactcg	13	16	3	9	1	3	1	3	1	0	0	5	1	4	1	1	0	1	1	1	0	6	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:55111514T>A	ENST00000314721.2	+	1	888	c.838T>A	c.(838-840)Ttg>Atg	p.L280M		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CACACTCATGTTGAATCCTTT	0.318													13	54					0	0	0	0	A	55111514	T	A	55111514	3	1	92	1	0	0	0	0	1	0	0	0	11112	1722	60	5	840	5	OR4A16	11	55111514	Missense_Mutation	SNP	T	TCGA-CN-6011-01A-11D-1683-08	11700217	55111514	79895002	232	17996											
OR8H3	390152	broad.mit.edu	37	chr11	55890553	55890553	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattccacttcaggaaagcaGaaagctttctctacttgcgt	12	12	7	10	1	2	1	1	0	1	1	4	2	3	2	1	1	4	2	1	1	4	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:55890553G>C	ENST00000313472.3	+	1	705	c.705G>C	c.(703-705)caG>caC	p.Q235H		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CAGGAAAGCAGAAAGCTTTCT	0.413													19	117					0	0	0	0	C	55890553	G	C	55890553	3	2	92	1	0	0	0	0	1	0	0	0	11310	933	33	2	707	2	OR8H3	11	55890553	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	779039	55890553	79115963	233	17997											
SSRP1	6749	broad.mit.edu	37	chr11	57097867	57097867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatcatgctggtcctcatCagagtcagcatattcatcgt	9	12	9	11	1	5	1	5	0	0	1	7	1	6	1	1	2	2	3	1	2	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:57097867C>T	ENST00000278412.2	-	11	1599	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	445	Asp/Glu-rich (acidic).				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TGGTCCTCATCAGAGTCAGCA	0.537													4	31					0	0	0	0	T	57097867	C	T	57097867	3	4	92	1	0	0	0	0	1	0	0	0	15284	826	29	2	824	2	SSRP1	11	57097867	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1207314	57097867	77908649	234	17998											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466638	57466638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattcagtcaacaccaggctCgggccatgcccctcgtacta	9	8	8	16	2	2	0	2	0	0	0	4	0	2	0	4	2	3	2	4	2	3	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:57466638C>T	ENST00000287169.3	+	11	3092	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S524L	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	577						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						ACACCAGGCTCGGGCCATGCC	0.597													34	144					0	0	0	0	T	57466638	C	T	57466638	3	4	92	1	0	0	0	0	1	0	0	0	17713	893	31	1	1768	1	ZDHHC5	11	57466638	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	368771	57466638	77539878	235	17999											
OR5B3	441608	broad.mit.edu	37	chr11	58170596	58170596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagatatacatttgagcaGcacatgcattgtaagagatg	16	10	9	6	0	0	3	0	1	0	2	0	4	0	3	0	0	4	4	0	0	4	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:58170596G>C	ENST00000309403.2	-	1	286	c.287C>G	c.(286-288)gCt>gGt	p.A96G		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CATTTGAGCAGCACATGCATT	0.448													24	87					0	0	0	0	C	58170596	G	C	58170596	3	2	92	1	0	0	0	0	1	0	0	0	11223	971	34	4	659	4	OR5B3	11	58170596	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	703958	58170596	76835920	236	18000											
OR5A2	219981	broad.mit.edu	37	chr11	59190242	59190242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaggttactgaggaagAagtacatgggcatgtgcagg	13	7	16	5	0	0	2	0	1	0	1	0	4	0	4	0	5	3	4	0	5	4	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:59190242A>G	ENST00000302040.4	-	1	207	c.185T>C	c.(184-186)tTc>tCc	p.F62S		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ACTGAGGAAGAAGTACATGGG	0.488													29	52					0	0	0	0	G	59190242	A	G	59190242	3	3	92	1	0	0	0	0	1	0	0	0	11211	246	9	5	791	5	OR5A2	11	59190242	Missense_Mutation	SNP	A	TCGA-CN-6011-01A-11D-1683-08	1019646	59190242	75816274	237	18001											
OR4D9	390199	broad.mit.edu	37	chr11	59283060	59283060	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggtcatcttgatgatgctGaggtctcacactggggaagg	9	10	14	8	1	3	3	2	3	2	0	4	4	3	4	0	5	1	1	0	5	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:59283060G>C	ENST00000329328.3	+	1	675	c.675G>C	c.(673-675)ctG>ctC	p.L225L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L225L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TGATGATGCTGAGGTCTCACA	0.488													32	167					0	0	0	0	C	59283060	G	C	59283060	2	2	92	1	0	0	0	0	0	0	0	1	11130	1277	45	2		2	OR4D9	11	59283060	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	92818	59283060	75723456	238	18002											
MS4A3	932	broad.mit.edu	37	chr11	59829989	59829989	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctggctttgggtgtctttCtgggttccttgcaataccca	4	17	10	10	0	3	0	0	0	3	0	4	0	4	0	2	3	2	3	2	3	2	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:59829989C>T	ENST00000278865.3	+	3	278	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Intron|MS4A3_ENST00000358152.2_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	69						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GGGTGTCTTTCTGGGTTCCTT	0.453													25	102					0	0	0	0	T	59829989	C	T	59829989	2	4	92	1	0	0	0	0	0	0	0	1	9931	912	32	2		2	MS4A3	11	59829989	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	546929	59829989	75176527	239	18003											
MS4A14	84689	broad.mit.edu	37	chr11	60183118	60183118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaccaggtaataaaggtaGagaatttgtgccagatgaac	16	8	10	7	0	0	3	0	1	0	2	0	4	0	3	3	2	3	2	3	2	7	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:60183118G>C	ENST00000300187.6	+	5	954	c.677G>C	c.(676-678)aGa>aCa	p.R226T	MS4A14_ENST00000395005.2_Missense_Mutation_p.R209T|MS4A14_ENST00000531787.1_Missense_Mutation_p.R114T|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.R259T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	226						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AATAAAGGTAGAGAATTTGTG	0.403													22	87					0	0	0	0	C	60183118	G	C	60183118	3	2	92	1	0	0	0	0	1	0	0	0	9928	942	33	2	695	2	MS4A14	11	60183118	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	353129	60183118	74823398	240	18004											
MS4A14	84689	broad.mit.edu	37	chr11	60183186	60183186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattttcagaggaagaaattGaacctttgcctcccacacta	14	11	6	10	0	1	3	1	1	0	2	2	4	2	4	3	1	2	0	3	1	5	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:60183186G>A	ENST00000300187.6	+	5	1022	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	MS4A14_ENST00000395005.2_Missense_Mutation_p.E232K|MS4A14_ENST00000531787.1_Missense_Mutation_p.E137K|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.E282K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	249						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GGAAGAAATTGAACCTTTGCC	0.383													11	91					0	0	0	0	A	60183186	G	A	60183186	3	1	92	1	0	0	0	0	1	0	0	0	9928	1291	45	2	763	2	MS4A14	11	60183186	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	68	60183186	74823330	241	18005											
AHNAK	79026	broad.mit.edu	37	chr11	62287084	62287084	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttcaccaccttctaacttCggacctgaaaatccaatttt	12	13	3	13	1	2	1	1	1	1	0	4	2	3	2	4	1	1	0	4	1	4	6	rs149805243		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:62287084C>T	ENST00000378024.4	-	5	15079	c.14805G>A	c.(14803-14805)ccG>ccA	p.P4935P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4935					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTAACTTCGGACCTGAAA	0.458													24	118					0	0	0	0	T	62287084	C	T	62287084	2	4	92	1	0	0	0	0	0	0	0	1	414	871	31	1		1	AHNAK	11	62287084	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	2103898	62287084	72719432	242	18006											
COX8A	1351	broad.mit.edu	37	chr11	63743743	63743743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtgaccttcctcctgcCagcgggctggatcctgtcac	4	11	10	16	2	1	1	1	1	0	0	5	2	4	2	5	2	2	1	5	2	0	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:63743743C>T	ENST00000314133.3	+	2	235	c.161C>T	c.(160-162)cCa>cTa	p.P54L	AP000721.4_ENST00000535431.1_Intron	NM_004074.2	NP_004065.1	P10176	COX8A_HUMAN	cytochrome c oxidase subunit VIIIA (ubiquitous)	54					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity										TTCCTCCTGCCAGCGGGCTGG	0.597													100	135					0	0	0	0	T	63743743	C	T	63743743	3	4	92	1	0	0	0	0	1	0	0	0	3815	594	21	4	167	4	COX8A	11	63743743	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1456659	63743743	71262773	243	18007											
SCYL1	57410	broad.mit.edu	37	chr11	65293810	65293810	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagcagtggcagagtggtCagagagaagtggtgggtgac	11	6	19	5	0	1	4	1	1	0	3	1	6	1	4	0	4	1	2	0	4	1	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:65293810C>T	ENST00000524944.1	+	4	624	c.591C>T	c.(589-591)gtC>gtT	p.V197V	SCYL1_ENST00000279270.6_Silent_p.V197V|SCYL1_ENST00000525364.1_Silent_p.V197V|SCYL1_ENST00000527009.1_Silent_p.V54V|SCYL1_ENST00000533862.1_Silent_p.V197V|SCYL1_ENST00000270176.5_Silent_p.V197V|SCYL1_ENST00000527630.1_Silent_p.V197V|SCYL1_ENST00000420247.2_Silent_p.V197V			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	197	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GCAGAGTGGTCAGAGAGAAGT	0.662													5	33					0	0	0	0	T	65293810	C	T	65293810	2	4	92	1	0	0	0	0	0	0	0	1	14034	813	29	2		2	SCYL1	11	65293810	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1550067	65293810	69712706	244	18008											
ACTN3	89	broad.mit.edu	37	chr11	66328070	66328070	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgacagcgcacgatcagttCaaggcaacactgcccgaggc	11	5	11	14	3	2	1	2	1	0	0	2	3	2	1	1	2	3	3	1	2	2	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:66328070C>G	ENST00000502692.1	+	0	1949				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						ACGATCAGTTCAAGGCAACAC	0.607													19	37					0	0	0	0	G	66328070	C	G	66328070	1	3	92	0	1	0	0	0	0	0	0	0	206	825	29	2		2	ACTN3	11	66328070	RNA	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1034260	66328070	68678446	245	18009											
LRP5	4041	broad.mit.edu	37	chr11	68179074	68179074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacaccaacatgatcgagtCgtccaacatgctgggtgagg	11	7	13	10	2	0	2	0	2	0	0	3	4	1	3	2	3	3	1	2	3	2	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:68179074C>T	ENST00000294304.7	+	11	2595	c.2489C>T	c.(2488-2490)tCg>tTg	p.S830L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	830	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGATCGAGTCGTCCAACATG	0.657													5	56					0	0	0	0	T	68179074	C	T	68179074	3	4	92	1	0	0	0	0	1	0	0	0	9024	893	31	1	2531	1	LRP5	11	68179074	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1851004	68179074	66827442	246	18010											
ANO1	55107	broad.mit.edu	37	chr11	70028776	70028776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccctggacctgggctacGaggtgcagatctgcaggtac	8	7	13	13	1	1	1	0	0	1	1	1	3	1	2	3	4	4	4	3	4	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:70028776G>A	ENST00000355303.5	+	24	2877	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K	ANO1_ENST00000531349.1_Missense_Mutation_p.E567K|ANO1_ENST00000530676.1_Missense_Mutation_p.E712K|ANO1_ENST00000398543.2_Missense_Mutation_p.E712K|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000538023.1_Missense_Mutation_p.E858K	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	858					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCTGGGCTACGAGGTGCAGAT	0.587													7	183					0	0	0	0	A	70028776	G	A	70028776	3	1	92	1	0	0	0	0	1	0	0	0	694	1059	37	1	2666	1	ANO1	11	70028776	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1849702	70028776	64977740	247	18011											
DLG2	1740	broad.mit.edu	37	chr11	83984284	83984284	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattctcagcccgagaaacActtggccgttgcatagcgaa	12	9	9	11	3	1	1	1	0	1	1	2	3	1	1	2	1	4	2	2	1	4	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:83984284A>C	ENST00000418306.2	-	1	39	c.15T>G	c.(13-15)agT>agG	p.S5R	DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000531015.1_Missense_Mutation_p.S5R|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000398309.2_Intron	NM_001142700.1	NP_001136172.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCCGAGAAACACTTGGCCGTT	0.388													5	3					0	0	0	0	C	83984284	A	C	83984284	3	2	92	1	0	0	0	0	1	0	0	0	4592	156	6	5	2636	5	DLG2	11	83984284	Missense_Mutation	SNP	A	TCGA-CN-6011-01A-11D-1683-08	13955508	83984284	51022232	248	18012											
PGR	5241	broad.mit.edu	37	chr11	100933223	100933223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactgaaagaagttgcctctCgcctagttgattaagacttg	11	13	9	8	1	1	4	0	2	1	2	2	4	1	4	2	0	2	2	2	0	5	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:100933223C>T	ENST00000325455.5	-	4	3620	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	PGR_ENST00000534013.1_Missense_Mutation_p.E129K|PGR_ENST00000263463.5_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	723	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AGTTGCCTCTCGCCTAGTTGA	0.358													26	56					0	0	0	0	T	100933223	C	T	100933223	3	4	92	1	0	0	0	0	1	0	0	0	11877	893	31	1	654	1	PGR	11	100933223	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	16948939	100933223	34073293	249	18013											
RNF214	257160	broad.mit.edu	37	chr11	117110556	117110556	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcagaggtaaacacagatCaagatattgaaaagaatttg	19	10	8	4	0	2	5	2	1	0	4	2	5	2	5	0	1	1	1	0	1	7	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:117110556C>T	ENST00000530849.1	+	3	203	c.193C>T	c.(193-195)Caa>Taa	p.Q65*	RNF214_ENST00000531287.1_Nonsense_Mutation_p.Q65*|RNF214_ENST00000531452.1_Nonsense_Mutation_p.Q220*|RNF214_ENST00000300650.4_Nonsense_Mutation_p.Q220*			Q8ND24	RN214_HUMAN	ring finger protein 214	220							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AAACACAGATCAAGATATTGA	0.318													6	17					0	0	0	0	T	117110556	C	T	117110556	4	4	92	1	0	0	0	0	0	1	0	0	13563	827	29	2	668	2	RNF214	11	117110556	Nonsense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	16177333	117110556	17895960	250	18014											
CACNA1C	775	broad.mit.edu	37	chr12	2693722	2693722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggacaacctggctgatgctGagagcctcacatctgcccaa	10	8	10	13	0	2	2	1	2	1	1	2	4	2	3	3	2	4	2	3	2	2	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:2693722G>A	ENST00000399655.1	+	16	2543	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	CACNA1C_ENST00000399591.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E760K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E760K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E760K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E760K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E760K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E785K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E760K	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	760					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGCTGATGCTGAGAGCCTCAC	0.512													13	45					0	0	0	0	A	2693722	G	A	2693722	3	1	92	1	0	0	0	0	1	0	0	0	2565	1291	45	2	2448	2	CACNA1C	12	2693722	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08		2693722	131158173	251	18015											
CASC1	55259	broad.mit.edu	37	chr12	25274696	25274696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcaacctacttccacaatCatccatcccttcactggttt	11	13	2	15	0	3	0	3	0	0	0	6	0	6	0	4	1	2	1	4	1	4	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:25274696C>T	ENST00000354189.5	-	11	1439	c.1404G>A	c.(1402-1404)atG>atA	p.M468I	CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Missense_Mutation_p.M345I|CASC1_ENST00000537577.1_Missense_Mutation_p.M292I|CASC1_ENST00000395987.3_Missense_Mutation_p.M410I|CASC1_ENST00000395990.2_Missense_Mutation_p.M364I|CASC1_ENST00000320267.9_Missense_Mutation_p.M404I	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	404										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			CTTCCACAATCATCCATCCCT	0.353													22	46					0	0	0	0	T	25274696	C	T	25274696	3	4	92	1	0	0	0	0	1	0	0	0	2685	826	29	2	962	2	CASC1	12	25274696	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	22580974	25274696	108577199	252	18016											
DENND5B	160518	broad.mit.edu	37	chr12	31555438	31555438	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagctgaacctacctcaaaGgtcatttcgaggaggttttt	10	14	9	8	1	2	1	2	1	0	0	3	3	2	2	2	3	3	2	2	3	4	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:31555438G>T	ENST00000389082.5	-	15	3207	c.2943C>A	c.(2941-2943)acC>acA	p.T981T	DENND5B_ENST00000536562.1_Silent_p.T1016T|DENND5B_ENST00000306833.6_Silent_p.T1016T	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	981	PLAT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTACCTCAAAGGTCATTTCGA	0.398													39	46					2.47872e-24	2.71987e-24	1	0	T	31555438	G	T	31555438	2	4	92	1	0	0	0	0	0	0	0	1	4474	987	35	4		4	DENND5B	12	31555438	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	6280742	31555438	102296457	253	18017											
LRRK2	120892	broad.mit.edu	37	chr12	40689444	40689444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttccacaacagctatgtGaagtaaatttaatttatcct	13	15	5	8	0	0	1	0	1	0	0	2	1	2	1	2	0	2	3	2	0	7	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:40689444G>A	ENST00000298910.7	+	23	3152	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	LRRK2_ENST00000343742.2_Missense_Mutation_p.E1032K	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1032					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACAGCTATGTGAAGTAAATTT	0.343													5	29					0	0	0	0	A	40689444	G	A	40689444	3	1	92	1	0	0	0	0	1	0	0	0	9097	1291	45	2	3184	2	LRRK2	12	40689444	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	9134006	40689444	93162451	254	18018											
PDZRN4	29951	broad.mit.edu	37	chr12	41967475	41967475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgccgtgagttcatgatgcGaagcaggttagagtgtctca	9	11	13	8	3	2	3	2	2	1	1	4	4	2	3	1	1	2	3	1	1	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:41967475G>A	ENST00000298919.7	+	10	2502	c.2114G>A	c.(2113-2115)cGa>cAa	p.R705Q	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R707Q|PDZRN4_ENST00000402685.2_Missense_Mutation_p.R965Q			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	965							ubiquitin-protein ligase activity|zinc ion binding	p.R707Q(2)|p.R965Q(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTCATGATGCGAAGCAGGTTA	0.507													12	32					0	0	0	0	A	41967475	G	A	41967475	3	1	92	1	0	0	0	0	1	0	0	0	11781	1058	37	1	3005	1	PDZRN4	12	41967475	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1278031	41967475	91884420	255	18019											
OR6C74	254783	broad.mit.edu	37	chr12	55641287	55641287	+	Frame_Shift_Del	DEL	A	A	-																															tttttagaagtctcattcacAactgtctacattcccaaatt																										TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:55641287delA	ENST00000343870.4	+	1	306	c.216delA	c.(214-216)acfs	p.T73fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCTCATTCACAACTGTCTACA	0.393													61	189	---	---	---	---					-	55641287	A	-	55641287	7	5	92	1	0	1	0	1	0	0	0	0	11269	117	5	0	218	0	OR6C74	12	55641287	Frame_Shift_Del	DEL	A	TCGA-CN-6011-01A-11D-1683-08	13673812	55641287	78210608	256	18020											
NACA	4666	broad.mit.edu	37	chr12	57113755	57113755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaatttaaccaatactgaaCtggggagatttttgaggtct	13	13	10	5	0	1	3	0	2	1	1	1	5	1	3	1	3	3	0	1	3	5	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:57113755C>A	ENST00000454682.1	-	3	1840	c.1559G>T	c.(1558-1560)aGt>aTt	p.S520I	NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S520I|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CAATACTGAACTGGGGAGATT	0.507			T	BCL6	NHL								22	22					3.10358e-05	3.2232e-05	1	0	A	57113755	C	A	57113755	3	1	92	1	0	0	0	0	1	0	0	0	10203	565	20	4	4705	4	NACA	12	57113755	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1472468	57113755	76738140	257	18021											
METTL1	4234	broad.mit.edu	37	chr12	58163602	58163602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttcatggcattgctacGgagacaggcgatgttctgga	8	11	14	8	2	2	1	1	0	1	1	2	4	2	2	0	4	3	4	0	4	1	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:58163602G>A	ENST00000324871.7	-	3	1121	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	METTL1_ENST00000257848.7_Intron	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	methyltransferase like 1	138						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			GCATTGCTACGGAGACAGGCG	0.607													7	31					0	0	0	0	A	58163602	G	A	58163602	3	1	92	1	0	0	0	0	1	0	0	0	9562	1116	39	1	434	1	METTL1	12	58163602	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1049847	58163602	75688293	258	18022											
SRGAP1	57522	broad.mit.edu	37	chr12	64383777	64383777	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaaagaccatgcaaccttGagtgacatctatctgaacaa	16	8	7	10	0	2	4	0	3	2	1	2	4	2	4	2	0	4	2	2	0	5	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:64383777G>C	ENST00000355086.3	+	3	875	c.351G>C	c.(349-351)ttG>ttC	p.L117F	SRGAP1_ENST00000543397.1_Missense_Mutation_p.L77F|SRGAP1_ENST00000357825.3_Missense_Mutation_p.L117F	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	117					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATGCAACCTTGAGTGACATCT	0.423													28	63					0	0	0	0	C	64383777	G	C	64383777	3	2	92	1	0	0	0	0	1	0	0	0	15235	1281	45	2	361	2	SRGAP1	12	64383777	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	6220175	64383777	69468118	259	18023											
DDX54	79039	broad.mit.edu	37	chr12	113599751	113599751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgctctctgtcttaatcttCttcttgtcttcctgtcctga	3	19	5	14	1	6	1	0	1	6	0	9	1	8	1	3	0	0	1	3	0	1	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:113599751C>G	ENST00000314045.7	-	18	2274	c.2247G>C	c.(2245-2247)aaG>aaC	p.K749N	DDX54_ENST00000306014.5_Missense_Mutation_p.K749N	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	749					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTTAATCTTCTTCTTGTCTT	0.602													40	100					0	0	0	0	G	113599751	C	G	113599751	3	3	92	1	0	0	0	0	1	0	0	0	4404	912	32	2	413	2	DDX54	12	113599751	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	49215974	113599751	20252144	260	18024											
RNF10	9921	broad.mit.edu	37	chr12	120995255	120995255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttacagttctgtgcataaGaaggatctcaagaggtgaga	13	11	12	5	0	2	3	1	1	2	3	3	5	2	4	0	2	2	3	0	2	4	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:120995255G>C	ENST00000325954.4	+	5	1277	c.816G>C	c.(814-816)aaG>aaC	p.K272N	RNF10_ENST00000413266.2_Missense_Mutation_p.K272N	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	272					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGTGCATAAGAAGGATCTCA	0.443													34	81					0	0	0	0	C	120995255	G	C	120995255	3	2	92	1	0	0	0	0	1	0	0	0	13507	933	33	2	834	2	RNF10	12	120995255	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	7395504	120995255	12856640	261	18025											
RNF10	9921	broad.mit.edu	37	chr12	120995384	120995384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcacatcagtatgttgttgGtgataccattacgatgcagc	10	13	10	8	1	2	1	2	1	0	0	2	2	2	1	1	1	4	4	1	1	3	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:120995384G>A	ENST00000325954.4	+	6	1327	c.866G>A	c.(865-867)gGt>gAt	p.G289D	RNF10_ENST00000413266.2_Missense_Mutation_p.G289D	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	289					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TATGTTGTTGGTGATACCATT	0.448													31	109					0	0	0	0	A	120995384	G	A	120995384	3	1	92	1	0	0	0	0	1	0	0	0	13507	1261	44	4	888	4	RNF10	12	120995384	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	129	120995384	12856511	262	18026											
NCOR2	9612	broad.mit.edu	37	chr12	124957522	124957522	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcttcagcttagagatCtgctgctctaccatggtgat	7	16	8	10	0	5	2	1	1	4	1	5	3	5	2	1	1	4	3	1	1	2	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:124957522C>T	ENST00000356219.3	-	5	722	c.567G>A	c.(565-567)caG>caA	p.Q189Q	NCOR2_ENST00000429285.2_Silent_p.Q189Q|NCOR2_ENST00000405201.1_Silent_p.Q189Q|NCOR2_ENST00000404621.1_Silent_p.Q189Q|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Silent_p.Q189Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	189					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTTAGAGATCTGCTGCTCTA	0.577													30	77					0	0	0	0	T	124957522	C	T	124957522	2	4	92	1	0	0	0	0	0	0	0	1	10306	912	32	2		2	NCOR2	12	124957522	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	3962138	124957522	8894373	263	18027											
SLC15A4	121260	broad.mit.edu	37	chr12	129293444	129293444	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgaccagtttgtccttcaGagggatgagcaggaggatga	11	9	14	7	1	1	3	1	2	0	1	3	7	2	6	2	3	1	2	2	3	0	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:129293444G>C	ENST00000266771.5	-	5	1186	c.1147C>G	c.(1147-1149)Ctg>Gtg	p.L383V	SLC15A4_ENST00000544112.1_Missense_Mutation_p.L46V	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	383					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TTGTCCTTCAGAGGGATGAGC	0.557													19	67					0	0	0	0	C	129293444	G	C	129293444	3	2	92	1	0	0	0	0	1	0	0	0	14489	933	33	2	602	2	SLC15A4	12	129293444	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	4335922	129293444	4558451	264	18028											
RIMBP2	23504	broad.mit.edu	37	chr12	130926553	130926553	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtacctggcggccttgacGatgtcgaactcctcctcgtt	5	13	10	13	4	0	1	0	1	0	0	4	3	2	1	4	2	2	2	4	2	2	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:130926553G>A	ENST00000261655.4	-	8	1456	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	RIMBP2_ENST00000535703.1_Silent_p.I339I|RIMBP2_ENST00000536002.1_Silent_p.I339I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	431	Fibronectin type-III 2.					cell junction|synapse		p.I431I(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGGCCTTGACGATGTCGAACT	0.567													11	51					0	0	0	0	A	130926553	G	A	130926553	2	1	92	1	0	0	0	0	0	0	0	1	13446	1048	37	1		1	RIMBP2	12	130926553	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1633109	130926553	2925342	265	18029											
XPO4	64328	broad.mit.edu	37	chr13	21417053	21417053	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	taatttggaggaagaaagttCcagctcaagacttgattggc	13	11	11	6	0	1	3	1	1	0	2	2	5	2	5	1	3	1	2	1	3	4	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:21417053C>G	ENST00000400602.2	-	6	743	c.708G>C	c.(706-708)tgG>tgC	p.W236C	XPO4_ENST00000255305.6_Missense_Mutation_p.W236C	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	236					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GAAGAAAGTTCCAGCTCAAGA	0.408													7	20					0	0	0	0	G	21417053	C	G	21417053	3	3	92	1	0	0	0	0	1	0	0	0	17542	856	30	2	2819	2	XPO4	13	21417053	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08		21417053	93752825	266	18030											
MTUS2	23281	broad.mit.edu	37	chr13	29599371	29599371	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggaggcattctttggaaaGagcaagcagctctgtagctg	11	9	14	7	0	2	1	0	0	2	1	2	4	2	3	0	3	4	6	0	3	3	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:29599371G>C	ENST00000431530.3	+	1	624	c.566G>C	c.(565-567)aGa>aCa	p.R189T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	179						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.R189K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTTTGGAAAGAGCAAGCAGC	0.547													22	42					0	0	0	0	C	29599371	G	C	29599371	3	2	92	1	0	0	0	0	1	0	0	0	10036	942	33	2	568	2	MTUS2	13	29599371	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	8182318	29599371	85570507	267	18031											
KL	9365	broad.mit.edu	37	chr13	33627907	33627907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttttctcttcataggctCatgccaaagtctggcatctc	7	15	8	11	0	5	0	2	0	3	0	7	0	5	0	1	3	1	3	1	3	2	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:33627907C>T	ENST00000380099.3	+	2	831	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_5'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	275	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCATAGGCTCATGCCAAAGT	0.413													19	49					0	0	0	0	T	33627907	C	T	33627907	3	4	92	1	0	0	0	0	1	0	0	0	8383	826	29	2	829	2	KL	13	33627907	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	4028536	33627907	81541971	268	18032											
KL	9365	broad.mit.edu	37	chr13	33638296	33638296	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccttatattttactactcGaagaaaggcagaagaagtta	15	12	7	7	1	0	3	0	0	0	3	2	4	1	3	1	1	2	2	1	1	9	6	rs139874106		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:33638296G>A	ENST00000380099.3	+	5	3020	c.3012G>A	c.(3010-3012)tcG>tcA	p.S1004S	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	1004					aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTTACTACTCGAAGAAAGGCA	0.333													9	14					0	0	0	0	A	33638296	G	A	33638296	2	1	92	1	0	0	0	0	0	0	0	1	8383	1045	37	1		1	KL	13	33638296	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	10389	33638296	81531582	269	18033											
RBM26	64062	broad.mit.edu	37	chr13	79911235	79911235	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttgagcagtaagaaagtAccgcaaaatgaggaagaaga	18	7	12	4	1	0	5	0	2	0	3	0	6	0	6	1	1	2	5	1	1	7	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:79911235A>G	ENST00000438737.2	-	19	3174		c.e19+1		RBM26_ENST00000267229.7_Splice_Site|RBM26_ENST00000438724.1_Splice_Site			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26						mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTAAGAAAGTACCGCAAAATG	0.413													9	3					0	0	0	0	G	79911235	A	G	79911235	5	3	92	1	0	0	0	0	0	0	1	0	13208	405	14	5	304	5	RBM26	13	79911235	Splice_Site	SNP	A	TCGA-CN-6011-01A-11D-1683-08	46272939	79911235	35258643	270	18034											
MYO16	23026	broad.mit.edu	37	chr13	109540724	109540724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctgttttccttagtggaGaaaggggatcaggaaagtct	10	13	12	6	0	3	1	1	0	2	1	5	4	4	3	1	4	0	1	1	4	3	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:109540724G>C	ENST00000356711.2	+	14	1618	c.1492G>C	c.(1492-1494)Gaa>Caa	p.E498Q	MYO16_ENST00000251041.5_Missense_Mutation_p.E498Q|MYO16_ENST00000457511.2_Missense_Mutation_p.E10Q|MYO16_ENST00000357550.2_Missense_Mutation_p.E498Q	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	498	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTTAGTGGAGAAAGGGGATC	0.438													34	14					0	0	0	0	C	109540724	G	C	109540724	3	2	92	1	0	0	0	0	1	0	0	0	10134	943	33	2	1542	2	MYO16	13	109540724	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	29629489	109540724	5629154	271	18035											
OR4K5	79317	broad.mit.edu	37	chr14	20388770	20388770	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagcttggaaccatggAtaagtccaattcttcagtgg	10	13	10	8	0	2	0	1	0	1	0	3	2	3	2	2	3	3	2	2	3	3	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:20388770A>G	ENST00000315915.4	+	1	30	c.5A>G	c.(4-6)gAt>gGt	p.D2G		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAACCATGGATAAGTCCAAT	0.353													8	41					0	0	0	0	G	20388770	A	G	20388770	3	3	92	1	0	0	0	0	1	0	0	0	11144	333	12	5	7	5	OR4K5	14	20388770	Missense_Mutation	SNP	A	TCGA-CN-6011-01A-11D-1683-08		20388770	86960770	272	18036											
G2E3	55632	broad.mit.edu	37	chr14	31081542	31081542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatgttagtaaaagacataCttggctaccatgtaattcag	15	13	7	6	0	1	1	1	0	0	1	1	1	1	1	1	1	2	4	1	1	7	8			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:31081542C>G	ENST00000206595.6	+	13	1784	c.1630C>G	c.(1630-1632)Ctt>Gtt	p.L544V	G2E3_ENST00000438909.2_Missense_Mutation_p.L498V|G2E3_ENST00000553504.1_Missense_Mutation_p.L574V	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	544	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAAAGACATACTTGGCTACCA	0.299													20	46					0	0	0	0	G	31081542	C	G	31081542	3	3	92	1	0	0	0	0	1	0	0	0	6188	565	20	4	1676	4	G2E3	14	31081542	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	10692772	31081542	76267998	273	18037											
STRN3	29966	broad.mit.edu	37	chr14	31405711	31405711	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taattcctactttatgtttaTtcatccgatgtttgtctttt	7	23	4	7	1	2	0	1	0	1	0	4	1	4	0	2	0	1	2	2	0	4	11			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:31405711T>C	ENST00000355683.5	-	6	1051	c.836A>G	c.(835-837)aAt>aGt	p.N279S	STRN3_ENST00000357479.5_Missense_Mutation_p.N279S	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	279					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTTATGTTTATTCATCCGATG	0.328													16	27					0	0	0	0	C	31405711	T	C	31405711	3	2	92	1	0	0	0	0	1	0	0	0	15420	1493	52	5	1609	5	STRN3	14	31405711	Missense_Mutation	SNP	T	TCGA-CN-6011-01A-11D-1683-08	324169	31405711	75943829	274	18038											
TRIM9	114088	broad.mit.edu	37	chr14	51561183	51561183	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcggctttgctctgctGgtagcggtcaattacccctt	4	12	12	13	3	2	0	1	0	1	0	2	0	2	0	3	4	4	4	3	4	3	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:51561183G>A	ENST00000298355.3	-	1	1596	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	TRIM9_ENST00000360392.4_Nonsense_Mutation_p.Q159*|TRIM9_ENST00000338969.5_Nonsense_Mutation_p.Q159*	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	159					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TTGCTCTGCTGGTAGCGGTCA	0.617													11	28					0	0	0	0	A	51561183	G	A	51561183	4	1	92	1	0	0	0	0	0	1	0	0	16644	1357	47	4	1747	4	TRIM9	14	51561183	Nonsense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	20155472	51561183	55788357	275	18039											
RHOJ	57381	broad.mit.edu	37	chr14	63749901	63749901	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatatgaaagagaaacctctCacttacgagcatggtgtgaa	15	10	9	7	1	1	3	1	2	1	1	2	5	1	3	1	1	3	1	1	1	6	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:63749901C>T	ENST00000316754.3	+	4	927	c.465C>T	c.(463-465)ctC>ctT	p.L155L	RHOJ_ENST00000555125.1_Silent_p.L155L	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	155					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		AGAAACCTCTCACTTACGAGC	0.398													17	36					0	0	0	0	T	63749901	C	T	63749901	2	4	92	1	0	0	0	0	0	0	0	1	13424	813	29	2		2	RHOJ	14	63749901	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	12188718	63749901	43599639	276	18040											
SYNE2	23224	broad.mit.edu	37	chr14	64564771	64564771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaaaccttcaccagcatttGaagcaagaacaagaaggagt	17	7	8	9	0	1	3	1	1	0	2	1	4	1	4	2	1	4	2	2	1	7	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:64564771G>C	ENST00000357395.3	+	63	12512	c.1368G>C	c.(1366-1368)ttG>ttC	p.L456F	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4104F|SYNE2_ENST00000394768.2_Missense_Mutation_p.L456F|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4071F|SYNE2_ENST00000344113.4_Missense_Mutation_p.L4071F|SYNE2_ENST00000555002.1_Missense_Mutation_p.L705F			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4071					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAGCATTTGAAGCAAGAAC	0.473													6	73					0	0	0	0	C	64564771	G	C	64564771	3	2	92	1	0	0	0	0	1	0	0	0	15537	1281	45	2	12455	2	SYNE2	14	64564771	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	814870	64564771	42784769	277	18041											
ARG2	384	broad.mit.edu	37	chr14	68086772	68086772	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatccgtccactccgtGgctgtgataggagccccgtt	9	9	11	12	3	0	2	0	1	0	1	3	3	3	3	5	2	1	2	5	2	3	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:68086772G>A	ENST00000261783.3	+	1	258	c.78G>A	c.(76-78)gtG>gtA	p.V26V	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	26					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TCCACTCCGTGGCTGTGATAG	0.622													8	15					0	0	0	0	A	68086772	G	A	68086772	2	1	92	1	0	0	0	0	0	0	0	1	860	1335	47	4		4	ARG2	14	68086772	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	3522001	68086772	39262768	278	18042											
FCF1	51077	broad.mit.edu	37	chr14	75181623	75181623	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagaaaagaaggatccCagcgcattaaaggaaagaga	22	3	11	5	1	0	4	0	0	0	4	1	7	1	6	1	2	1	1	1	2	8	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:75181623C>G	ENST00000341162.4	+	3	174	c.120C>G	c.(118-120)ccC>ccG	p.P40P	FCF1_ENST00000553615.1_Silent_p.P25P|FCF1_ENST00000534938.2_Silent_p.P28P	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	40					rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		AGAAGGATCCCAGCGCATTAA	0.353													5	7					0	0	0	0	G	75181623	C	G	75181623	2	3	92	1	0	0	0	0	0	0	0	1	5822	581	21	4		4	FCF1	14	75181623	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	7094851	75181623	32167917	279	18043											
DLST	1743	broad.mit.edu	37	chr14	75359641	75359641	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagcacccatacccactCagatgccaccggtgccctcg	8	6	8	19	2	1	1	1	0	0	1	2	1	1	1	5	1	5	2	5	1	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:75359641C>T	ENST00000334220.4	+	8	608	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Nonsense_Mutation_p.Q97*	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	183					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CATACCCACTCAGATGCCACC	0.587													18	21					0	0	0	0	T	75359641	C	T	75359641	4	4	92	1	0	0	0	0	0	1	0	0	4606	827	29	2	577	2	DLST	14	75359641	Nonsense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	178018	75359641	31989899	280	18044											
DLST	1743	broad.mit.edu	37	chr14	75361017	75361017	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccactcttactttcaggaGaaaatgaacaggatgcggca	13	10	9	9	1	2	2	1	1	1	1	3	4	3	3	1	3	3	1	1	3	4	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:75361017G>C	ENST00000334220.4	+	10	736	c.675G>C	c.(673-675)gaG>gaC	p.E225D	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Missense_Mutation_p.E139D	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	225					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		ACTTTCAGGAGAAAATGAACA	0.473													47	83					0	0	0	0	C	75361017	G	C	75361017	3	2	92	1	0	0	0	0	1	0	0	0	4606	933	33	2	713	2	DLST	14	75361017	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1376	75361017	31988523	281	18045											
SEL1L	6400	broad.mit.edu	37	chr14	81952776	81952776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctttcagaccaacggcctCgttcacatacattcttaaac	11	11	5	14	2	3	1	2	0	1	1	4	1	3	1	3	1	3	1	3	1	4	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:81952776C>T	ENST00000336735.4	-	17	1771	c.1655G>A	c.(1654-1656)cGa>cAa	p.R552Q		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	552	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CCAACGGCCTCGTTCACATAC	0.413													34	106					0	0	0	0	T	81952776	C	T	81952776	3	4	92	1	0	0	0	0	1	0	0	0	14097	884	31	1	749	1	SEL1L	14	81952776	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	6591759	81952776	25396764	282	18046											
SETD3	84193	broad.mit.edu	37	chr14	99932040	99932040	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccagaggaggacttacTctgcagcagctcactggtca	10	7	12	12	0	3	1	2	0	1	1	3	4	3	3	1	3	5	3	1	3	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:99932040T>A	ENST00000331768.5	-	2	262	c.103_splice	c.e2+1	p.K35_splice	SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000436070.2_Splice_Site_p.K35_splice|SETD3_ENST00000329331.3_Splice_Site_p.K35_splice	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	35					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GAGGACTTACTCTGCAGCAGC	0.502													9	30					0	0	0	0	A	99932040	T	A	99932040	5	1	92	1	0	0	0	0	0	0	1	0	14219	1565	54	5	1775	5	SETD3	14	99932040	Splice_Site	SNP	T	TCGA-CN-6011-01A-11D-1683-08	17979264	99932040	7417500	283	18047											
EIF5	1983	broad.mit.edu	37	chr14	103807372	103807372	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acaacaaggatgacgacatcGatattgatgccatttaaagg	16	9	9	7	2	0	2	0	2	0	0	1	5	0	3	1	2	2	0	1	2	5	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:103807372G>C	ENST00000216554.3	+	12	1955	c.1279G>C	c.(1279-1281)Gat>Cat	p.D427H	EIF5_ENST00000392715.2_Missense_Mutation_p.D427H|EIF5_ENST00000558506.1_Missense_Mutation_p.D427H	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	427	Asp-rich (acidic).				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	p.D425fs*>5(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TGACGACATCGATATTGATGC	0.403													7	42					0	0	0	0	C	103807372	G	C	103807372	3	2	92	1	0	0	0	0	1	0	0	0	5078	1058	37	3	1317	3	EIF5	14	103807372	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	3875332	103807372	3542168	284	18048											
SIVA1	10572	broad.mit.edu	37	chr14	105225821	105225821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgccatgttcgagacctGaggctggctcaagccggctg	6	9	14	12	2	1	2	1	1	0	1	2	3	1	2	3	3	2	4	3	3	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:105225821G>A	ENST00000329967.6	+	4	629	c.527G>A	c.(526-528)tGa>tAa	p.*176*	SIVA1_ENST00000347067.5_Silent_p.*111*	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	0					activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		TTCGAGACCTGAGGCTGGCTC	0.627													4	23					0	0	0	0	A	105225821	G	A	105225821	2	1	92	1	0	0	0	0	0	0	0	1	14433	1285	45	2		2	SIVA1	14	105225821	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1418449	105225821	2123719	285	18049											
AKT1	207	broad.mit.edu	37	chr14	105241317	105241317	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcaggacgcggttctcGgtgagtgtgtgggccacctc	4	11	15	11	3	2	1	0	1	2	0	4	2	2	2	2	4	1	2	2	4	0	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:105241317G>A	ENST00000554581.1	-	6	2071	c.591C>T	c.(589-591)acC>acT	p.T197T	AKT1_ENST00000544168.1_Silent_p.T135T|AKT1_ENST00000407796.2_Silent_p.T197T|AKT1_ENST00000402615.2_Silent_p.T197T|AKT1_ENST00000349310.3_Silent_p.T197T|AKT1_ENST00000555528.1_Silent_p.T197T|AKT1_ENST00000554848.1_Silent_p.T197T			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	197	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CGCGGTTCTCGGTGAGTGTGT	0.682		1	Mis		"breast, colorectal, ovarian, NSCLC"								14	56					0	0	0	0	A	105241317	G	A	105241317	2	1	92	1	0	0	0	0	0	0	0	1	478	1103	39	1		1	AKT1	14	105241317	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	15496	105241317	2108223	286	18050											
TRPM1	4308	broad.mit.edu	37	chr15	31339443	31339443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgatgtggtaatcaggCggaaggttgctctgtaaaag	11	10	15	5	1	2	1	1	1	1	0	2	2	2	2	0	5	1	5	0	5	4	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:31339443C>T	ENST00000542188.1	-	14	1999	c.1686G>A	c.(1684-1686)ccG>ccA	p.P562P	TRPM1_ENST00000256552.6_Silent_p.P545P|TRPM1_ENST00000397795.2_Silent_p.P523P	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	523					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGTAATCAGGCGGAAGGTTGC	0.547													6	25					0	0	0	0	T	31339443	C	T	31339443	2	4	92	1	0	0	0	0	0	0	0	1	16680	755	27	1		1	TRPM1	15	31339443	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08		31339443	71191949	287	18051											
CASC5	57082	broad.mit.edu	37	chr15	40914964	40914964	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagaggacgaaagtgtacaGaaacctaaatttccaaagga	18	8	9	6	1	0	2	0	0	0	2	1	5	1	4	2	2	2	1	2	2	7	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:40914964G>A	ENST00000346991.5	+	11	2970	c.2580G>A	c.(2578-2580)caG>caA	p.Q860Q	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Silent_p.Q834Q			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	860	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAGTGTACAGAAACCTAAAT	0.338													32	44					0	0	0	0	A	40914964	G	A	40914964	2	1	92	1	0	0	0	0	0	0	0	1	2688	933	33	2		2	CASC5	15	40914964	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	9575521	40914964	61616428	288	18052											
SPINT1	6692	broad.mit.edu	37	chr15	41148218	41148218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggcaacaagaacaactttGaggaagagcagcagtgcctc	15	5	11	10	1	0	3	0	1	0	2	1	4	0	4	1	2	6	3	1	2	5	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:41148218G>A	ENST00000344051.4	+	9	1528	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	SPINT1_ENST00000431806.1_Missense_Mutation_p.E416K|SPINT1_ENST00000562057.1_Missense_Mutation_p.E416K			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	432	BPTI/Kunitz inhibitor 2.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAACAACTTTGAGGAAGAGCA	0.577													32	87					0	0	0	0	A	41148218	G	A	41148218	3	1	92	1	0	0	0	0	1	0	0	0	15158	1291	45	2	1324	2	SPINT1	15	41148218	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	233254	41148218	61383174	289	18053											
SERINC4	619189	broad.mit.edu	37	chr15	44087395	44087395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgatgaaggtcttttccaGttctgctccctcatagctgt	6	16	8	11	0	3	2	1	2	2	0	5	2	5	2	2	1	2	3	2	1	2	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:44087395G>T	ENST00000319327.6	-	12	1594	c.1360C>A	c.(1360-1362)Ctg>Atg	p.L454M	RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000409646.1_Intron|SERINC4_ENST00000299969.6_Missense_Mutation_p.N379K|SERINC4_ENST00000249714.3_Missense_Mutation_p.L210M	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	454					phospholipid biosynthetic process	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		GTCTTTTCCAGTTCTGCTCCC	0.507													11	33					2.27111e-07	2.405e-07	1	0	T	44087395	G	T	44087395	3	4	92	1	0	0	0	0	1	0	0	0	14169	1020	36	4	200	4	SERINC4	15	44087395	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2939177	44087395	58443997	290	18054											
SLC30A4	7782	broad.mit.edu	37	chr15	45778943	45778943	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattcaaatggcttggcacaCctattaggaatatataattt	14	14	6	7	0	1	0	1	0	0	0	1	1	1	1	1	3	0	2	1	3	7	8			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:45778943C>G	ENST00000261867.4	-	7	1315	c.1000_splice	c.e7-1	p.G334_splice	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	334					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		GCTTGGCACACCTATTAGGAA	0.294													41	167					0	0	0	0	G	45778943	C	G	45778943	5	3	92	1	0	0	0	0	0	0	1	0	14645	521	18	4	296	4	SLC30A4	15	45778943	Splice_Site	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1691548	45778943	56752449	291	18055											
TRPM7	54822	broad.mit.edu	37	chr15	50866605	50866605	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgttgtattttctaaattctCcagtcatacattcttccaca	10	18	3	10	0	4	0	1	0	3	0	6	0	5	0	2	0	1	2	2	0	4	9			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:50866605C>G	ENST00000313478.7	-	36	5455	c.5174G>C	c.(5173-5175)gGa>gCa	p.G1725A	TRPM7_ENST00000560955.1_Missense_Mutation_p.G1724A|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1725	Alpha-type protein kinase.				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCTAAATTCTCCAGTCATACA	0.343													4	31					0	0	0	0	G	50866605	C	G	50866605	3	3	92	1	0	0	0	0	1	0	0	0	16686	855	30	2	439	2	TRPM7	15	50866605	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	5087662	50866605	51664787	292	18056											
DMXL2	23312	broad.mit.edu	37	chr15	51778300	51778300	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcatcctcctttggtgtttGttccagtaatgtgtccaagg	7	16	9	9	0	1	0	1	0	0	0	5	0	5	0	4	2	0	3	4	2	2	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:51778300G>C	ENST00000251076.5	-	23	5739	c.5452C>G	c.(5452-5454)Caa>Gaa	p.Q1818E	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q1818E|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q1182E	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1818						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTTGGTGTTTGTTCCAGTAAT	0.383													30	27					0	0	0	0	C	51778300	G	C	51778300	3	2	92	1	0	0	0	0	1	0	0	0	4632	1386	48	4	3745	4	DMXL2	15	51778300	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	911695	51778300	50753092	293	18057											
UNC13C	440279	broad.mit.edu	37	chr15	54305292	54305292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttaaaagcactgtaaaGaagattgcaaagtgttcatc	16	12	7	6	0	1	2	1	0	0	2	2	2	1	2	0	0	2	4	0	0	6	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:54305292G>T	ENST00000545554.1	+	1	192	c.192G>T	c.(190-192)aaG>aaT	p.K64N	UNC13C_ENST00000260323.11_Missense_Mutation_p.K64N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K64N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	64					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCACTGTAAAGAAGATTGCAA	0.423													9	47					0.00448238	0.00457675	1	0	T	54305292	G	T	54305292	3	4	92	1	0	0	0	0	1	0	0	0	17082	933	33	2	194	2	UNC13C	15	54305292	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2526992	54305292	48226100	294	18058											
UNC13C	440279	broad.mit.edu	37	chr15	54586136	54586136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaatcaaagtcagagtatggGatgaagatgatgatattaaa	18	10	11	2	0	2	5	2	3	0	2	2	7	2	6	0	1	0	1	0	1	7	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:54586136G>A	ENST00000545554.1	+	10	3862	c.3862G>A	c.(3862-3864)Gat>Aat	p.D1288N	UNC13C_ENST00000260323.11_Missense_Mutation_p.D1288N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1286N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1288	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGAGTATGGGATGAAGATGA	0.358													31	29					0	0	0	0	A	54586136	G	A	54586136	3	1	92	1	0	0	0	0	1	0	0	0	17082	1174	41	2	3896	2	UNC13C	15	54586136	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	280844	54586136	47945256	295	18059											
PDCD7	10081	broad.mit.edu	37	chr15	65426079	65426079	+	Frame_Shift_Del	DEL	G	G	-																															gcggcggctgcgggggcggtGggcctgggcgaccctggccg																										TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:65426079delG	ENST00000204549.4	-	1	95	c.41delC	c.(40-42)cafs	p.P17fs		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	17	Pro-rich.				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CGGGGGCGGTGGGCCTGGGCG	0.692													2	4	---	---	---	---					-	65426079	G	-	65426079	7	5	92	1	0	1	0	1	0	0	0	0	11696	1348	47	0	1436	0	PDCD7	15	65426079	Frame_Shift_Del	DEL	G	TCGA-CN-6011-01A-11D-1683-08	10839943	65426079	37105313	296	18060											
CILP	8483	broad.mit.edu	37	chr15	65489097	65489097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggggctgttgagcaactCtaggaaatctcagagaggcc	11	8	13	9	0	3	2	2	1	2	1	4	4	3	3	1	4	2	3	1	4	3	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:65489097C>T	ENST00000261883.4	-	9	3693	c.3527G>A	c.(3526-3528)aGa>aAa	p.R1176K		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1176					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TTGAGCAACTCTAGGAAATCT	0.557													14	30					0	0	0	0	T	65489097	C	T	65489097	3	4	92	1	0	0	0	0	1	0	0	0	3458	913	32	2	31	2	CILP	15	65489097	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	63018	65489097	37042295	297	18061											
KIF23	9493	broad.mit.edu	37	chr15	69739225	69739225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcagtgttctgtggctgtgGagatgagagcaggatcccag	8	10	15	8	0	2	2	1	1	1	2	3	5	3	3	1	3	1	3	1	3	0	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:69739225G>A	ENST00000260363.4	+	22	2929	c.2812G>A	c.(2812-2814)Gag>Aag	p.E938K	KIF23_ENST00000352331.4_Missense_Mutation_p.E834K|KIF23_ENST00000395392.2_Missense_Mutation_p.E930K|KIF23_ENST00000558585.1_Missense_Mutation_p.E651K|KIF23_ENST00000559279.1_Missense_Mutation_p.E834K|KIF23_ENST00000537891.1_Missense_Mutation_p.E651K	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	938					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TGTGGCTGTGGAGATGAGAGC	0.468													13	70					0	0	0	0	A	69739225	G	A	69739225	3	1	92	1	0	0	0	0	1	0	0	0	8342	1175	41	2	2898	2	KIF23	15	69739225	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	4250128	69739225	32792167	298	18062											
GOLGA6B	55889	broad.mit.edu	37	chr15	72953676	72953676	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggagcgggcgctgctgaaCgcacacgtgacacaggtgag	11	4	16	10	4	0	3	0	3	0	0	0	4	0	4	0	3	3	3	0	3	2	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:72953676C>T	ENST00000421285.3	+	8	636	c.636C>T	c.(634-636)aaC>aaT	p.N212N		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	212										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CGCTGCTGAACGCACACGTGA	0.582													9	43					0	0	0	0	T	72953676	C	T	72953676	2	4	92	1	0	0	0	0	0	0	0	1	6609	535	19	1		1	GOLGA6B	15	72953676	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	3214451	72953676	29577716	299	18063											
CSPG4	1464	broad.mit.edu	37	chr15	75982533	75982533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttccagccggtgagcattGatgtggacactgacctcatg	9	11	11	10	1	1	3	1	3	0	0	2	4	2	4	3	2	2	1	3	2	0	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:75982533G>A	ENST00000308508.5	-	3	965	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	291	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGTGAGCATTGATGTGGACAC	0.617													12	34					0	0	0	0	A	75982533	G	A	75982533	2	1	92	1	0	0	0	0	0	0	0	1	3992	1280	45	2		2	CSPG4	15	75982533	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	3028857	75982533	26548859	300	18064											
ISL2	64843	broad.mit.edu	37	chr15	76634064	76634064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttccgccgccccaggtctCcttctccgagtccggctccc	2	10	9	20	4	2	0	0	0	2	0	7	1	5	0	8	2	0	2	8	2	0	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:76634064C>A	ENST00000290759.4	+	6	1128	c.968C>A	c.(967-969)tCc>tAc	p.S323Y	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	323						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						CCCCAGGTCTCCTTCTCCGAG	0.677													13	66					1.3612e-06	1.43518e-06	1	0	A	76634064	C	A	76634064	3	1	92	1	0	0	0	0	1	0	0	0	7910	855	30	2	990	2	ISL2	15	76634064	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	651531	76634064	25897328	301	18065											
RASGRF1	5923	broad.mit.edu	37	chr15	79294085	79294085	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtatcaccatcatcactctGgttttgatcaatatctgact	11	15	5	10	0	6	2	4	2	2	0	6	2	6	2	1	1	0	2	1	1	3	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:79294085G>A	ENST00000419573.3	-	17	2816	c.2542C>T	c.(2542-2544)Cag>Tag	p.Q848*	RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.Q832*|RASGRF1_ENST00000394745.3_Nonsense_Mutation_p.Q64*|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	850					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCATCACTCTGGTTTTGATCA	0.318													47	58					0	0	0	0	A	79294085	G	A	79294085	4	1	92	1	0	0	0	0	0	1	0	0	13154	1357	47	4	1327	4	RASGRF1	15	79294085	Nonsense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2660021	79294085	23237307	302	18066											
ST8SIA2	8128	broad.mit.edu	37	chr15	93007381	93007381	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacccaccaccggcctcttGatgtataccctggccacacg	9	7	8	17	2	1	2	0	1	1	1	1	2	1	2	6	2	1	1	6	2	2	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:93007381G>C	ENST00000268164.3	+	6	1131	c.894G>C	c.(892-894)ttG>ttC	p.L298F	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.L277F	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	298					axon guidance|N-glycan processing|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)			CCGGCCTCTTGATGTATACCC	0.438													3	14					0	0	0	0	C	93007381	G	C	93007381	3	2	92	1	0	0	0	0	1	0	0	0	15322	1281	45	2	916	2	ST8SIA2	15	93007381	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	13713296	93007381	9524011	303	18067											
SNX29	92017	broad.mit.edu	37	chr16	12145835	12145835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggcaggggagagctcagagGacaactccgaccgctcctct	9	5	14	13	2	2	2	1	0	1	2	4	5	4	3	3	4	2	3	3	4	1	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:12145835G>A	ENST00000566228.1	+	8	949	c.880G>A	c.(880-882)Gac>Aac	p.D294N		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	266	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GAGCTCAGAGGACAACTCCGA	0.483													15	52					0	0	0	0	A	12145835	G	A	12145835	3	1	92	1	0	0	0	0	1	0	0	0	14986	1174	41	2		2	SNX29	16	12145835	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08		12145835	78208918	304	18068											
MYH11	4629	broad.mit.edu	37	chr16	15833949	15833949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatccatgaccaggatctCatcctccagtttcttgatct	9	14	5	13	0	4	2	2	2	3	0	8	3	7	3	4	1	0	1	4	1	0	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:15833949C>T	ENST00000338282.6	-	23	3062	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	MYH11_ENST00000452625.2_Missense_Mutation_p.E993K|MYH11_ENST00000300036.5_Missense_Mutation_p.E986K|MYH11_ENST00000576790.1_Missense_Mutation_p.E986K|MYH11_ENST00000396324.3_Missense_Mutation_p.E993K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	986					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCAGGATCTCATCCTCCAGT	0.517			T	CBFB	AML								28	78					0	0	0	0	T	15833949	C	T	15833949	3	4	92	1	0	0	0	0	1	0	0	0	10101	835	29	2	3073	2	MYH11	16	15833949	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	3688114	15833949	74520804	305	18069											
MYH11	4629	broad.mit.edu	37	chr16	15841954	15841954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggggaagccctgccggcaGatgcgaatgccttccagcac	8	7	13	13	2	0	1	0	0	0	1	1	3	1	2	4	3	5	2	4	3	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:15841954G>C	ENST00000338282.6	-	17	2236	c.2130C>G	c.(2128-2130)atC>atG	p.I710M	MYH11_ENST00000452625.2_Missense_Mutation_p.I717M|MYH11_ENST00000300036.5_Missense_Mutation_p.I710M|MYH11_ENST00000576790.1_Missense_Mutation_p.I710M|MYH11_ENST00000396324.3_Missense_Mutation_p.I717M	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	710	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTGCCGGCAGATGCGAATGC	0.637			T	CBFB	AML								15	64					0	0	0	0	C	15841954	G	C	15841954	3	2	92	1	0	0	0	0	1	0	0	0	10101	932	33	2	3923	2	MYH11	16	15841954	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	8005	15841954	74512799	306	18070											
XYLT1	64131	broad.mit.edu	37	chr16	17221547	17221547	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactgaagcctcccaaaGtcactgggtgggcttgcgat	11	8	12	10	1	1	1	1	1	0	0	2	3	2	1	2	2	3	1	2	2	4	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:17221547G>A	ENST00000261381.6	-	10	2283	c.2199C>T	c.(2197-2199)gaC>gaT	p.D733D		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	733					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCTCCCAAAGTCACTGGGTG	0.483													114	93					0	0	0	0	A	17221547	G	A	17221547	2	1	92	1	0	0	0	0	0	0	0	1	17559	1020	36	4		4	XYLT1	16	17221547	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1379593	17221547	73133206	307	18071											
CDH8	1006	broad.mit.edu	37	chr16	61935158	61935158	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcattgtcattgatgtcttGaactttaataataaattcag	13	17	6	5	0	3	2	2	2	1	0	3	2	3	2	0	0	2	1	0	0	5	8			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:61935158G>A	ENST00000577390.1	-	3	1426	c.472C>T	c.(472-474)Caa>Taa	p.Q158*	CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q158*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q158*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q158*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	158	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTGATGTCTTGAACTTTAATA	0.433													19	62					0	0	0	0	A	61935158	G	A	61935158	4	1	92	1	0	0	0	0	0	1	0	0	3145	1299	45	2	1967	2	CDH8	16	61935158	Nonsense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	44713611	61935158	28419595	308	18072											
HYDIN	54768	broad.mit.edu	37	chr16	71212846	71212846	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcactttgtcattgttcctCaaaatcagtggaacttcata	11	15	5	10	0	5	0	5	0	0	0	6	1	6	1	1	1	1	1	1	1	4	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:71212846C>T	ENST00000393567.2	-	4	516	c.366G>A	c.(364-366)ttG>ttA	p.L122L	HYDIN_ENST00000448089.2_Silent_p.L122L|HYDIN_ENST00000393550.2_Silent_p.L122L|HYDIN_ENST00000448691.1_Silent_p.L122L|HYDIN_ENST00000538248.1_Silent_p.L149L|HYDIN_ENST00000541601.1_Silent_p.L139L|HYDIN_ENST00000321489.5_Silent_p.L122L|HYDIN_ENST00000288168.10_Silent_p.L139L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	122										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CATTGTTCCTCAAAATCAGTG	0.403													29	89					0	0	0	0	T	71212846	C	T	71212846	2	4	92	1	0	0	0	0	0	0	0	1	7520	825	29	2		2	HYDIN	16	71212846	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	9277688	71212846	19141907	309	18073											
TAT	6898	broad.mit.edu	37	chr16	71609874	71609874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgagtccagggcatctttCattgcctgggtaacttcagg	7	11	11	12	1	3	0	2	0	1	0	4	1	4	0	3	3	2	2	3	3	1	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:71609874C>G	ENST00000355962.4	-	3	424	c.291G>C	c.(289-291)atG>atC	p.M97I	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	97					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GGGCATCTTTCATTGCCTGGG	0.488													20	87					0	0	0	0	G	71609874	C	G	71609874	3	3	92	1	0	0	0	0	1	0	0	0	15681	826	29	2	1113	2	TAT	16	71609874	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	397028	71609874	18744879	310	18074											
GLG1	2734	broad.mit.edu	37	chr16	74527006	74527006	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttataatcctgggcaatCagcttttggcgggttgtaag	9	14	11	7	1	1	0	1	0	0	0	2	0	2	0	1	3	1	4	1	3	4	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:74527006C>G	ENST00000422840.2	-	7	1082	c.1083G>C	c.(1081-1083)ctG>ctC	p.L361L	GLG1_ENST00000205061.5_Silent_p.L361L|GLG1_ENST00000447066.2_Silent_p.L350L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	361						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCTGGGCAATCAGCTTTTGGC	0.453													22	62					0	0	0	0	G	74527006	C	G	74527006	2	3	92	1	0	0	0	0	0	0	0	1	6487	813	29	2		2	GLG1	16	74527006	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	2917132	74527006	15827747	311	18075											
MBTPS1	8720	broad.mit.edu	37	chr16	84089658	84089658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggggacaagggcctcaCttgagggcgattcgatcgaa	10	7	14	10	3	1	1	1	1	0	0	4	5	2	2	2	4	0	0	2	4	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:84089658C>T	ENST00000343411.3	-	22	3409	c.2914G>A	c.(2914-2916)Gtg>Atg	p.V972M		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	972					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGGGCCTCACTTGAGGGCGA	0.498													40	32					0	0	0	0	T	84089658	C	T	84089658	3	4	92	1	0	0	0	0	1	0	0	0	9430	565	20	4	252	4	MBTPS1	16	84089658	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	9562652	84089658	6265095	312	18076											
MYBBP1A	10514	broad.mit.edu	37	chr17	4455427	4455427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtcgcccgcacctggctgGccagaactgcatcttcagca	7	7	11	16	3	2	1	1	0	1	1	3	1	2	1	3	2	3	4	3	2	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:4455427G>A	ENST00000254718.4	-	7	1204	c.898C>T	c.(898-900)Cca>Tca	p.P300S	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P300S			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	300	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CACCTGGCTGGCCAGAACTGC	0.627													4	69					0	0	0	0	A	4455427	G	A	4455427	3	1	92	1	0	0	0	0	1	0	0	0	10078	1203	42	4	3208	4	MYBBP1A	17	4455427	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08		4455427	76739783	313	18077											
SLC13A5	284111	broad.mit.edu	37	chr17	6606428	6606428	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtcttcctgctgccccaGagtggggccttcaaaaatca	8	11	10	12	0	3	1	2	0	1	1	4	1	4	1	4	3	2	1	4	3	2	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:6606428G>A	ENST00000433363.2	-	5	810	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	SLC13A5_ENST00000381074.4_Silent_p.L150L|SLC13A5_ENST00000293800.6_Silent_p.L176L|SLC13A5_ENST00000573648.1_Silent_p.L193L	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	193						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TGCTGCCCCAGAGTGGGGCCT	0.632													25	77					0	0	0	0	A	6606428	G	A	6606428	2	1	92	1	0	0	0	0	0	0	0	1	14483	933	33	2		2	SLC13A5	17	6606428	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2151001	6606428	74588782	314	18078											
TP53	7157	broad.mit.edu	37	chr17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtgcgccggtctctcccagGacaggcacaaacacgcacct	9	6	10	16	3	1	0	0	0	1	0	3	1	2	1	3	3	2	2	3	3	1	0	rs17849781		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:7577106G>A	ENST00000420246.2	-	8	964	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000269305.4_Missense_Mutation_p.P278S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCTCCCAGGACAGGCACAA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	32					0	0	0	0	A	7577106	G	A	7577106	3	1	92	1	0	0	0	0	1	0	0	0	16476	1174	41	2	454	2	TP53	17	7577106	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	970678	7577106	73618104	315	18079											
TP53	7157	broad.mit.edu	37	chr17	7578234	7578235	+	Frame_Shift_Ins	INS	-	-	T																															aagtgtttctgtcatccaaaINStactccacacgcaaatttcc																										TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:7578234_7578235insT	ENST00000420246.2	-	6	746_747	c.614_615insA	c.(613-615)tttfs	p.F205fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.F205fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.F205fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.F205fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Ins_p.F205fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.F205fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y205*(4)|p.Y112S(1)|p.Y73S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGTCATCCAAATACTCCACACG	0.54		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	21	---	---	---	---					T	7578235	-	T	7578234	7	5	92	1	0	1	1	0	0	0	0	0	16476	108	4	0	679	0	TP53	17	7578234	Frame_Shift_Ins	INS	-	TCGA-CN-6011-01A-11D-1683-08	1128	7578234	73616976	316	18080											
GUCY2D	3000	broad.mit.edu	37	chr17	7907263	7907263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgggcctgaccgatggctCcctggtcttcctgcccttcg	2	11	12	16	2	1	1	0	1	1	0	4	2	3	1	5	3	1	2	5	3	0	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:7907263C>T	ENST00000254854.4	+	3	965	c.815C>T	c.(814-816)tCc>tTc	p.S272F		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	272					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				ACCGATGGCTCCCTGGTCTTC	0.672													29	96					0	0	0	0	T	7907263	C	T	7907263	3	4	92	1	0	0	0	0	1	0	0	0	6947	855	30	2	821	2	GUCY2D	17	7907263	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	329029	7907263	73287947	317	18081											
KRT34	3885	broad.mit.edu	37	chr17	39538614	39538614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taattgtgggtgggggcttgGcatacagcatagtttccttt	7	15	13	6	0	0	0	0	0	0	0	1	0	1	0	1	4	2	4	1	4	3	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:39538614G>A	ENST00000394001.1	-	1	41	c.11C>T	c.(10-12)gCc>gTc	p.A4V		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	4	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TGGGGGCTTGGCATACAGCAT	0.433													16	15					0	0	0	0	A	39538614	G	A	39538614	3	1	92	1	0	0	0	0	1	0	0	0	8523	1203	42	4	1327	4	KRT34	17	39538614	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	31631351	39538614	41656596	318	18082											
WNT3	7473	broad.mit.edu	37	chr17	44851102	44851102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttccagcggcggcccCggaactggtgctggcactcc	5	7	14	15	3	0	0	0	0	0	0	2	1	2	1	4	5	4	4	4	5	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:44851102C>T	ENST00000225512.5	-	2	416	c.254G>A	c.(253-255)cGg>cAg	p.R85Q		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	85					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCGGCGGCCCCGGAACTGGTG	0.647													34	16					0	0	0	0	T	44851102	C	T	44851102	3	4	92	1	0	0	0	0	1	0	0	0	17484	652	23	1	825	1	WNT3	17	44851102	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	5312488	44851102	36344108	319	18083											
RAD51C	5889	broad.mit.edu	37	chr17	56770070	56770070	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttcccgctgtctccagcGgtgcgggtgaagctggtgtc	4	11	15	11	3	1	1	0	1	1	0	4	1	2	1	2	3	3	3	2	3	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:56770070G>A	ENST00000337432.4	+	1	137	c.66G>A	c.(64-66)gcG>gcA	p.A22A	RAD51C_ENST00000421782.2_Silent_p.A22A|RAD51C_ENST00000487921.1_Intron|RAD51C_ENST00000583539.1_Silent_p.A22A	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	22					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCTCCAGCGGTGCGGGTGA	0.587								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				37	16					0	0	0	0	A	56770070	G	A	56770070	2	1	92	1	0	0	0	0	0	0	0	1	13070	1103	39	1		1	RAD51C	17	56770070	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	11918968	56770070	24425140	320	18084											
BRIP1	83990	broad.mit.edu	37	chr17	59761063	59761063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaaatctctatttgaagtgGactgtttatcttcttcactt	10	18	5	8	0	4	1	1	1	3	0	5	2	4	2	0	1	0	1	0	1	5	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:59761063G>A	ENST00000259008.2	-	20	3611	c.3344C>T	c.(3343-3345)tCc>tTc	p.S1115F		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1115					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ATTTGAAGTGGACTGTTTATC	0.353			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					44	17					0	0	0	0	A	59761063	G	A	59761063	3	1	92	1	0	0	0	0	1	0	0	0	1522	1174	41	2	409	2	BRIP1	17	59761063	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2990993	59761063	21434147	321	18085											
RAB31	11031	broad.mit.edu	37	chr18	9708423	9708423	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgatggcgatacgggagctCaaagtgtgccttctcggggt	8	10	15	8	3	2	1	1	1	1	0	3	3	2	2	1	4	3	1	1	4	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:9708423C>G	ENST00000578921.1	+	1	262	c.21C>G	c.(19-21)ctC>ctG	p.L7L		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	6					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						TACGGGAGCTCAAAGTGTGCC	0.746													4	18					0	0	0	0	G	9708423	C	G	9708423	2	3	92	1	0	0	0	0	0	0	0	1	13002	813	29	2		2	RAB31	18	9708423	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08		9708423	68368825	322	18086											
POTEC	388468	broad.mit.edu	37	chr18	14513720	14513720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtttattagtcagaatctCatcttgtgatattccagtgt	9	19	7	6	0	3	2	2	1	2	1	5	2	4	2	1	0	0	1	1	0	4	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:14513720C>T	ENST00000358970.5	-	10	1473	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	492										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GTCAGAATCTCATCTTGTGAT	0.313													4	36					0	0	0	0	T	14513720	C	T	14513720	3	4	92	1	0	0	0	0	1	0	0	0	12334	835	29	2	162	2	POTEC	18	14513720	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	4805297	14513720	63563528	323	18087											
CDH2	1000	broad.mit.edu	37	chr18	25568547	25568547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcacatttggtgattctCggtccaaaacagcaattgta	11	15	7	8	1	2	1	1	1	1	0	4	1	3	1	1	2	2	2	1	2	4	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:25568547C>T	ENST00000269141.3	-	11	2105	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	CDH2_ENST00000399380.3_Missense_Mutation_p.R530Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	561	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGTGATTCTCGGTCCAAAAC	0.333													12	20					0	0	0	0	T	25568547	C	T	25568547	3	4	92	1	0	0	0	0	1	0	0	0	3134	884	31	1	1062	1	CDH2	18	25568547	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	11054827	25568547	52508701	324	18088											
ASXL3	80816	broad.mit.edu	37	chr18	31324115	31324115	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcctcccaagttaagtgctGaaagcttggacaaaaattca	14	10	8	9	0	1	1	1	1	0	0	3	2	3	2	2	1	2	3	2	1	5	3	rs144287211	by1000genomes	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:31324115G>C	ENST00000269197.5	+	12	4303	c.4303G>C	c.(4303-4305)Gaa>Caa	p.E1435Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTTAAGTGCTGAAAGCTTGGA	0.488											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	176					0	0	0	0	C	31324115	G	C	31324115	3	2	92	1	0	0	0	0	1	0	0	0	1072	1291	45	2	4349	2	ASXL3	18	31324115	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	5755568	31324115	46753133	325	18089											
MBP	4155	broad.mit.edu	37	chr18	74729142	74729142	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcatcctgccaggcattCttcgggtccgctgtgcgctt	3	12	13	13	3	1	0	0	0	1	0	4	0	3	0	3	3	2	4	3	3	0	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:74729142C>G	ENST00000397860.3	-	4	436	c.222G>C	c.(220-222)aaG>aaC	p.K74N	MBP_ENST00000487778.1_5'UTR|MBP_ENST00000397863.1_Missense_Mutation_p.K74N|MBP_ENST00000580402.1_Missense_Mutation_p.K74N|MBP_ENST00000354542.4_5'UTR|MBP_ENST00000579129.1_Missense_Mutation_p.K74N|MBP_ENST00000355994.2_Missense_Mutation_p.K74N	NM_001025100.1	NP_001020271.1	P02686	MBP_HUMAN	myelin basic protein	74					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		GCCAGGCATTCTTCGGGTCCG	0.607													20	9					0	0	0	0	G	74729142	C	G	74729142	3	3	92	1	0	0	0	0	1	0	0	0	9428	912	32	2	816	2	MBP	18	74729142	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	43405027	74729142	3348106	326	18090											
BSG	682	broad.mit.edu	37	chr19	571571	571571	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcagtcggacgcgtctccCcaagaaaggtaaccgccagc	12	4	11	14	4	1	1	0	0	1	1	3	2	1	2	4	2	3	2	4	2	4	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:571571C>T	ENST00000346916.4	+	1	275	c.24C>T	c.(22-24)ccC>ccT	p.P8P	BSG_ENST00000545507.2_5'UTR|AC009005.2_ENST00000590292.1_RNA|AC009005.2_ENST00000589457.1_RNA|AC009005.2_ENST00000588908.1_RNA|AC009005.2_ENST00000588290.1_RNA	NM_198591.2	NP_940993.1	P35613	BASI_HUMAN	basigin	184					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		acgcgtctccccaagaaaggt	0.597													9	26					0	0	0	0	T	571571	C	T	571571	2	4	92	1	0	0	0	0	0	0	0	1	1537	610	22	4		4	BSG	19	571571	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08		571571	58557412	327	18091											
HMHA1	23526	broad.mit.edu	37	chr19	1085820	1085820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcagccacagcggcagtgagGagcagctggaggccacagcc	10	2	16	13	1	0	1	0	1	0	0	0	3	0	3	3	4	5	4	3	4	0	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:1085820G>A	ENST00000313093.2	+	23	3457	c.3226G>A	c.(3226-3228)Gag>Aag	p.E1076K	HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000536472.1_Missense_Mutation_p.E944K|HMHA1_ENST00000590577.1_Missense_Mutation_p.E711K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E1103K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E1092K|HMHA1_ENST00000543365.1_Missense_Mutation_p.E959K|HMHA1_ENST00000586866.1_Missense_Mutation_p.E1080K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	1076					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CGGCAGTGAGGAGCAGCTGGA	0.672													12	18					0	0	0	0	A	1085820	G	A	1085820	3	1	92	1	0	0	0	0	1	0	0	0	7290	1175	41	2	3316	2	HMHA1	19	1085820	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	514249	1085820	58043163	328	18092											
MEX3D	399664	broad.mit.edu	37	chr19	1556757	1556757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagacccccggccttgctgCgcgtggcgcggatgatggag	5	6	17	13	5	0	2	0	1	0	1	0	4	0	4	3	4	2	2	3	4	0	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:1556757C>T	ENST00000402693.4	-	2	760	c.761G>A	c.(760-762)cGc>cAc	p.R254H	MEX3D_ENST00000388824.6_Missense_Mutation_p.R254H	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	254					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		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)		GGCCTTGCTGCGCGTGGCGCG	0.706													16	41					0	0	0	0	T	1556757	C	T	1556757	3	4	92	1	0	0	0	0	1	0	0	0	9581	768	27	1	1261	1	MEX3D	19	1556757	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	470937	1556757	57572226	329	18093											
TIMM13	26517	broad.mit.edu	37	chr19	2427036	2427036	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tagcggtccatgcacatggcGatgcacttctgcgggagcgg	7	8	15	11	4	1	0	0	0	1	0	2	2	2	1	1	4	5	2	1	4	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:2427036G>C	ENST00000215570.3	-	3	558	c.198C>G	c.(196-198)atC>atG	p.I66M	TIMM13_ENST00000591871.1_Missense_Mutation_p.I51M	NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN	translocase of inner mitochondrial membrane 13 homolog (yeast)	66					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding			endometrium(1)|prostate(1)	2		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)		TGCACATGGCGATGCACTTCT	0.706													5	7					0	0	0	0	C	2427036	G	C	2427036	3	2	92	1	0	0	0	0	1	0	0	0	16000	1048	37	3	93	3	TIMM13	19	2427036	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	870279	2427036	56701947	330	18094											
ZNF555	148254	broad.mit.edu	37	chr19	2853240	2853240	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaaaggactcatggtggaGagaaaccctatgaatgcaac	16	7	11	7	0	1	3	1	2	0	1	1	6	1	5	1	3	3	1	1	3	5	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:2853240G>C	ENST00000334241.4	+	4	1315	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.E392Q	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		TCATGGTGGAGAGAAACCCTA	0.493													11	23					0	0	0	0	C	2853240	G	C	2853240	3	2	92	1	0	0	0	0	1	0	0	0	18081	943	33	2	1191	2	ZNF555	19	2853240	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	426204	2853240	56275743	331	18095											
NCLN	56926	broad.mit.edu	37	chr19	3192541	3192541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagccgccgctgcgtgctCatgcggctactggacttctc	4	10	12	15	4	2	1	1	1	1	0	3	2	2	2	2	2	5	3	2	2	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:3192541C>T	ENST00000246117.4	+	2	689	c.258C>T	c.(256-258)ctC>ctT	p.L86L	NCLN_ENST00000590671.1_Silent_p.L12L	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	86					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCGTGCTCATGCGGCTAC	0.697													6	18					0	0	0	0	T	3192541	C	T	3192541	2	4	92	1	0	0	0	0	0	0	0	1	10297	813	29	2		2	NCLN	19	3192541	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	339301	3192541	55936442	332	18096											
MUC16	94025	broad.mit.edu	37	chr19	9084208	9084208	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaggcagtggctggttcaAtagttgatgctagaagtgag	11	11	15	4	0	1	4	1	3	0	1	1	4	1	4	0	3	1	5	0	3	5	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:9084208A>G	ENST00000397910.4	-	1	7810	c.7607T>C	c.(7606-7608)aTt>aCt	p.I2536T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2536	Ser-rich.|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						GGCTGGTTCAATAGTTGATGC	0.507													12	29					0	0	0	0	G	9084208	A	G	9084208	3	3	92	1	0	0	0	0	1	0	0	0	10043	101	4	5	36252	5	MUC16	19	9084208	Missense_Mutation	SNP	A	TCGA-CN-6011-01A-11D-1683-08	5891667	9084208	50044775	333	18097											
ZNF560	147741	broad.mit.edu	37	chr19	9578107	9578107	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagtgtgagttctcaaatGagcaaaaagagatgagaaag	18	7	11	5	0	1	4	1	3	1	2	2	6	1	4	1	0	1	2	1	0	4	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:9578107G>C	ENST00000301480.4	-	10	1729	c.1516C>G	c.(1516-1518)Cat>Gat	p.H506D		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTCTCAAATGAGCAAAAAGA	0.413													13	93					0	0	0	0	C	9578107	G	C	9578107	3	2	92	1	0	0	0	0	1	0	0	0	18086	1290	45	2	860	2	ZNF560	19	9578107	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	493899	9578107	49550876	334	18098											
ZNF433	163059	broad.mit.edu	37	chr19	12126809	12126809	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaaggaatgggaagagctGaaggctttcccacactgttt	12	10	12	7	0	0	3	0	2	0	1	1	5	1	5	1	3	1	3	1	3	4	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:12126809G>C	ENST00000419886.2	-	5	1059	c.768C>G	c.(766-768)ttC>ttG	p.F256L	ZNF433_ENST00000344980.6_Missense_Mutation_p.F291L|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GGGAAGAGCTGAAGGCTTTCC	0.433													13	37					0	0	0	0	C	12126809	G	C	12126809	3	2	92	1	0	0	0	0	1	0	0	0	18002	1281	45	2	1152	2	ZNF433	19	12126809	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2548702	12126809	47002174	335	18099											
OR7A10	390892	broad.mit.edu	37	chr19	14952228	14952228	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctttgtaacatggaattCagaacactcatgatccagga	15	10	8	8	0	2	2	2	1	0	1	3	4	3	4	1	2	3	2	1	2	4	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:14952228C>G	ENST00000248058.1	-	1	461	c.462G>C	c.(460-462)ctG>ctC	p.L154L		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					ACATGGAATTCAGAACACTCA	0.458													4	64					0	0	0	0	G	14952228	C	G	14952228	2	3	92	1	0	0	0	0	0	0	0	1	11285	813	29	2		2	OR7A10	19	14952228	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	2825419	14952228	44176755	336	18100											
NOTCH3	4854	broad.mit.edu	37	chr19	15291928	15291928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggacggcacaggcagctGaacgagttcacgccgtccac	9	4	13	15	5	1	1	1	1	0	0	2	3	2	2	3	3	2	4	3	3	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:15291928G>T	ENST00000263388.2	-	18	2913	c.2838C>A	c.(2836-2838)ttC>ttA	p.F946L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	946	EGF-like 24.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			acaggcagctgaacgagttca	0.687													4	14					0.00024832	0.000256791	1	0	T	15291928	G	T	15291928	3	4	92	1	0	0	0	0	1	0	0	0	10620	1281	45	2	4191	2	NOTCH3	19	15291928	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	339700	15291928	43837055	337	18101											
CPAMD8	27151	broad.mit.edu	37	chr19	17111256	17111256	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaggacagggcgtcccacctCgtggctgtagtaccctacac	8	7	12	14	2	0	0	0	0	0	0	2	2	1	1	3	3	2	3	3	3	3	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:17111256C>G	ENST00000443236.1	-	10	1007	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	CPAMD8_ENST00000388925.4_Missense_Mutation_p.E279Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	279						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGTCCCACCTCGTGGCTGTAG	0.517													6	19					0	0	0	0	G	17111256	C	G	17111256	3	3	92	1	0	0	0	0	1	0	0	0	3825	893	31	3	4954	3	CPAMD8	19	17111256	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1819328	17111256	42017727	338	18102											
LRRC25	126364	broad.mit.edu	37	chr19	18507145	18507145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctaaaccgggcttgggcCcatcctgagcagcccagggt	8	6	13	14	1	0	1	0	1	0	0	1	1	1	1	5	3	4	2	5	3	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:18507145C>A	ENST00000339007.3	-	1	1282	c.629G>T	c.(628-630)gGg>gTg	p.G210V	LRRC25_ENST00000595840.1_Missense_Mutation_p.G210V	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	210						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GGGCTTGGGCCCATCCTGAGC	0.667													4	49					0.150653	0.152223	1	0	A	18507145	C	A	18507145	3	1	92	1	0	0	0	0	1	0	0	0	9044	623	22	4	296	4	LRRC25	19	18507145	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1395889	18507145	40621838	339	18103											
ZNF100	163227	broad.mit.edu	37	chr19	21948580	21948580	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggacacattccatacctCgggtcatcctacgggagaaa	13	7	10	11	2	1	2	1	0	0	2	4	4	3	3	3	3	2	0	3	3	3	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:21948580C>T	ENST00000358296.6	-	2	210	c.12G>A	c.(10-12)ccG>ccA	p.P4P		NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TTCCATACCTCGGGTCATCCT	0.483													18	46					0	0	0	0	T	21948580	C	T	21948580	2	4	92	1	0	0	0	0	0	0	0	1	17808	871	31	1		1	ZNF100	19	21948580	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	3441435	21948580	37180403	340	18104											
ZNF208	7757	broad.mit.edu	37	chr19	22156005	22156005	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgccacattcttcacAtttgtagggtttctcaccag	7	16	8	10	0	3	0	2	0	2	0	4	0	3	0	2	2	1	3	2	2	1	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:22156005A>T	ENST00000397126.4	-	4	1979	c.1831T>A	c.(1831-1833)Tgt>Agt	p.C611S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATTCTTCACATTTGTAGGGT	0.373													27	23					0	0	0	0	T	22156005	A	T	22156005	3	4	92	1	0	0	0	0	1	0	0	0	17861	217	8	5	2015	5	ZNF208	19	22156005	Missense_Mutation	SNP	A	TCGA-CN-6011-01A-11D-1683-08	207425	22156005	36972978	341	18105											
NUDT19	390916	broad.mit.edu	37	chr19	33200187	33200187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagacttgcaaactttGcctctctctctgacttgcac	9	13	7	12	0	2	3	0	2	2	2	4	4	2	3	1	0	4	2	1	0	2	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:33200187G>A	ENST00000397061.3	+	2	811	c.811G>A	c.(811-813)Gcc>Acc	p.A271T		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	271						mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					TGCAAACTTTGCCTCTCTCTC	0.453													52	175					0	0	0	0	A	33200187	G	A	33200187	3	1	92	1	0	0	0	0	1	0	0	0	10807	1319	46	4	817	4	NUDT19	19	33200187	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	11044182	33200187	25928796	342	18106											
RHPN2	85415	broad.mit.edu	37	chr19	33493179	33493179	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgatgaggaggatggcaGtgaagtagtgggccagggcc	9	6	20	6	1	0	2	0	2	0	0	1	5	0	4	2	6	0	2	2	6	2	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:33493179G>C	ENST00000254260.3	-	9	1114	c.1079C>G	c.(1078-1080)aCt>aGt	p.T360S	RHPN2_ENST00000400226.4_Missense_Mutation_p.T209S	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	360	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GAGGATGGCAGTGAAGTAGTG	0.647													20	37					0	0	0	0	C	33493179	G	C	33493179	3	2	92	1	0	0	0	0	1	0	0	0	13434	1029	36	4	1009	4	RHPN2	19	33493179	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	292992	33493179	25635804	343	18107											
MAP4K1	11184	broad.mit.edu	37	chr19	39103307	39103307	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggccagttcgatggccgtGatgcccagggaccagatgtc	7	8	14	12	3	0	2	0	1	0	1	3	4	0	3	4	3	1	1	4	3	0	1	rs56029962		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:39103307G>A	ENST00000591517.1	-	9	637	c.609C>T	c.(607-609)atC>atT	p.I203I	MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589130.1_Silent_p.I199I|MAP4K1_ENST00000396857.2_Silent_p.I203I|MAP4K1_ENST00000586296.1_Silent_p.I203I|MAP4K1_ENST00000589002.1_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	203	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGATGGCCGTGATGCCCAGGG	0.627													26	70					0	0	0	0	A	39103307	G	A	39103307	2	1	92	1	0	0	0	0	0	0	0	1	9328	1280	45	2		2	MAP4K1	19	39103307	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	5610128	39103307	20025676	344	18108											
SPTBN4	57731	broad.mit.edu	37	chr19	41066348	41066348	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcttcctgcctccccctGgtggcctaccccagccaccc	3	7	9	22	1	0	0	0	0	0	0	2	0	2	0	9	3	3	1	9	3	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:41066348G>A	ENST00000595535.1	+	27	6040	c.5954G>A	c.(5953-5955)tGg>tAg	p.W1985*	SPTBN4_ENST00000598249.1_Intron|SPTBN4_ENST00000392023.1_Nonsense_Mutation_p.W661*|SPTBN4_ENST00000392025.1_Intron|SPTBN4_ENST00000338932.3_Intron|SPTBN4_ENST00000352632.3_Intron			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	0					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTCCCCCTGGTGGCCTACC	0.632													5	37					0	0	0	0	A	41066348	G	A	41066348	4	1	92	1	0	0	0	0	0	1	0	0	15211	1357	47	4	6056	4	SPTBN4	19	41066348	Nonsense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1963041	41066348	18062635	345	18109											
PSG7	5676	broad.mit.edu	37	chr19	43433864	43433864	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggagatggagggtttggGagtctccactgtgcggaaaa	9	9	17	6	1	1	1	0	0	1	1	2	5	1	4	1	5	1	2	1	5	2	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:43433864G>T	ENST00000446844.3	-	0	528				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GAGGGTTTGGGAGTCTCCACT	0.512													61	13					1.43675e-24	1.5801e-24	1	0	T	43433864	G	T	43433864	1	4	92	0	1	0	0	0	0	0	0	0	12739	1174	41	2		2	PSG7	19	43433864	RNA	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2367516	43433864	15695119	346	18110											
IRGC	56269	broad.mit.edu	37	chr19	44223308	44223308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatccgagaccactgtgccGagcggctgcgggaggccggc	7	4	17	13	5	0	2	0	0	0	2	1	5	1	3	4	4	3	1	4	4	0	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:44223308G>A	ENST00000244314.5	+	2	797	c.598G>A	c.(598-600)Gag>Aag	p.E200K		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	200						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCACTGTGCCGAGCGGCTGCG	0.701													14	54					0	0	0	0	A	44223308	G	A	44223308	3	1	92	1	0	0	0	0	1	0	0	0	7891	1059	37	1	600	1	IRGC	19	44223308	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	789444	44223308	14905675	347	18111											
CKM	1158	broad.mit.edu	37	chr19	45818846	45818846	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtagttagggtccaggtCgtctccaccctggagagcgg	7	8	14	12	3	1	1	0	0	1	1	4	2	2	1	3	4	1	2	3	4	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:45818846C>A	ENST00000221476.3	-	4	532	c.358G>T	c.(358-360)Gac>Tac	p.D120Y		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	120					creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGGTCCAGGTCGTCTCCACCC	0.677													10	25					2.17888e-05	2.26772e-05	1	0	A	45818846	C	A	45818846	3	1	92	1	0	0	0	0	1	0	0	0	3478	884	31	3	807	3	CKM	19	45818846	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1595538	45818846	13310137	348	18112											
DACT3	147906	broad.mit.edu	37	chr19	47151925	47151925	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgaggccaccgctgccGtctgagtcgctggaggcaga	8	5	14	14	4	1	2	0	1	1	1	2	4	1	3	3	3	1	3	3	3	0	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:47151925G>A	ENST00000391916.2	-	4	1777	c.1704C>T	c.(1702-1704)gaC>gaT	p.D568D	DACT3_ENST00000300875.4_Silent_p.D343D	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	568										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		CACCGCTGCCGTCTGAGTCGC	0.736													17	32					0	0	0	0	A	47151925	G	A	47151925	2	1	92	1	0	0	0	0	0	0	0	1	4256	1136	40	1		1	DACT3	19	47151925	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1333079	47151925	11977058	349	18113											
DBP	1628	broad.mit.edu	37	chr19	49140149	49140149	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcttgctggtcccctgcaGaaggctccgcaacccaagca	8	6	12	15	1	0	1	0	0	0	1	2	1	2	1	4	3	4	6	4	3	3	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:49140149G>A	ENST00000222122.5	-	1	546	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	DBP_ENST00000601104.1_Silent_p.L35L	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	35					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GTCCCCTGCAGAAGGCTCCGC	0.701													3	10					0	0	0	0	A	49140149	G	A	49140149	2	1	92	1	0	0	0	0	0	0	0	1	4289	933	33	2		2	DBP	19	49140149	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1988224	49140149	9988834	350	18114											
GYS1	2997	broad.mit.edu	37	chr19	49484831	49484831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgagggtttccacgttGaaattgttggtccgcgctgg	5	14	13	9	3	0	2	0	2	0	0	2	2	2	2	3	3	0	4	3	3	1	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:49484831G>T	ENST00000323798.3	-	8	1321	c.1125C>A	c.(1123-1125)ttC>ttA	p.F375L	GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.F311L|GYS1_ENST00000541188.1_Missense_Mutation_p.F295L|GYS1_ENST00000544287.1_Missense_Mutation_p.F8L	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	375					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TTTCCACGTTGAAATTGTTGG	0.587													4	33					0.00198382	0.00202986	1	0	T	49484831	G	T	49484831	3	4	92	1	0	0	0	0	1	0	0	0	6962	1281	45	2	1124	2	GYS1	19	49484831	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	344682	49484831	9644152	351	18115											
SLC17A7	57030	broad.mit.edu	37	chr19	49935905	49935905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcgcggacaccaggcCtacctgcgggaacaggtgta	9	4	16	12	3	0	0	0	0	0	0	0	2	0	2	3	5	4	2	3	5	3	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:49935905C>T	ENST00000221485.3	-	9	1192	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S	SLC17A7_ENST00000600601.1_Missense_Mutation_p.G274S|SLC17A7_ENST00000543531.1_Missense_Mutation_p.G329S	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	341					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GACACCAGGCCTACCTGCGGG	0.692													18	13					0	0	0	0	T	49935905	C	T	49935905	3	4	92	1	0	0	0	0	1	0	0	0	14510	681	24	4	677	4	SLC17A7	19	49935905	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	451074	49935905	9193078	352	18116											
TSKS	60385	broad.mit.edu	37	chr19	50243129	50243129	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctcaagtggcaggttgctGagatgatcgtggagggagca	9	8	16	8	1	1	2	1	2	0	1	2	5	1	4	1	4	2	4	1	4	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:50243129G>A	ENST00000246801.3	-	11	1765	c.1683C>T	c.(1681-1683)ctC>ctT	p.L561L	TSKS_ENST00000358830.3_Silent_p.L361L	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	561							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCAGGTTGCTGAGATGATCGT	0.587													31	75					0	0	0	0	A	50243129	G	A	50243129	2	1	92	1	0	0	0	0	0	0	0	1	16721	1277	45	2		2	TSKS	19	50243129	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	307224	50243129	8885854	353	18117											
SIGLEC6	946	broad.mit.edu	37	chr19	52034048	52034048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggggtgattgtgagcaccGaggactgggtggtcctgggg	5	9	21	6	1	0	2	0	2	0	0	1	4	1	3	2	7	1	1	2	7	0	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:52034048G>A	ENST00000346477.3	-	3	661	c.593C>T	c.(592-594)tCg>tTg	p.S198L	SIGLEC6_ENST00000359982.4_Missense_Mutation_p.S198L|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.S198L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.S162L|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.S187L|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.S198L	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	198	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTGAGCACCGAGGACTGGGT	0.652													19	66					0	0	0	0	A	52034048	G	A	52034048	3	1	92	1	0	0	0	0	1	0	0	0	14400	1059	37	1	825	1	SIGLEC6	19	52034048	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1790919	52034048	7094935	354	18118											
HAS1	3036	broad.mit.edu	37	chr19	52217097	52217097	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccttggccagtgccacGccctgcacgcacagcagcac	7	4	11	19	3	0	0	0	0	0	0	0	0	0	0	5	1	4	4	5	1	0	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:52217097G>A	ENST00000540069.2	-	5	1377	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	HAS1_ENST00000222115.1_Silent_p.G440G|HAS1_ENST00000601714.1_Silent_p.G447G			Q92839	HAS1_HUMAN	hyaluronan synthase 1	440					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCAGTGCCACGCCCTGCACGC	0.697													7	13					0	0	0	0	A	52217097	G	A	52217097	2	1	92	1	0	0	0	0	0	0	0	1	7011	1074	38	1		1	HAS1	19	52217097	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	183049	52217097	6911886	355	18119											
ZNF761	388561	broad.mit.edu	37	chr19	53950463	53950463	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcaggattgacttctaaaGactcttggtacgtgaggaag	12	12	11	6	1	3	3	1	2	2	1	3	5	3	5	0	3	1	1	0	3	4	6			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:53950463G>C	ENST00000454407.1	+	0	395							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GACTTCTAAAGACTCTTGGTA	0.443													10	30					0	0	0	0	C	53950463	G	C	53950463	1	2	92	0	1	0	0	0	0	0	0	0	18230	957	33	2		2	ZNF761	19	53950463	RNA	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1733366	53950463	5178520	356	18120											
PRKCG	5582	broad.mit.edu	37	chr19	54409999	54409999	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttgacaagttcttcacGcgggcggcgccagcgctgac	8	8	12	13	5	2	2	1	2	1	0	2	2	2	2	1	2	2	2	1	2	2	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:54409999G>A	ENST00000263431.3	+	18	2226	c.1944G>A	c.(1942-1944)acG>acA	p.T648T	PRKCG_ENST00000540413.1_Silent_p.T648T|PRKCG_ENST00000542049.1_Silent_p.T499T	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	648	AGC-kinase C-terminal.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		AGTTCTTCACGCGGGCGGCGC	0.647											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	90					0	0	0	0	A	54409999	G	A	54409999	2	1	92	1	0	0	0	0	0	0	0	1	12592	1074	38	1		1	PRKCG	19	54409999	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	459536	54409999	4718984	357	18121											
NDUFA3	4696	broad.mit.edu	37	chr19	54606193	54606193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggagacaaagatggctGcgagtaagtgcaggttccgg	10	6	16	9	4	0	2	0	0	0	2	1	4	1	2	2	4	2	4	2	4	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:54606193G>A	ENST00000485876.1	+	1	49	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	NDUFA3_ENST00000391764.3_Missense_Mutation_p.A3T|NDUFA3_ENST00000391763.3_Missense_Mutation_p.A3T|NDUFA3_ENST00000471292.1_Missense_Mutation_p.A3T|NDUFA3_ENST00000391762.1_Missense_Mutation_p.A3T|NDUFA3_ENST00000303553.5_5'UTR			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	3					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	AAAGATGGCTGCGAGTAAGTG	0.692											OREG0003632|OREG0003682	type=REGULATORY REGION|Gene=BC035023|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=NDUFA3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	11					0	0	0	0	A	54606193	G	A	54606193	3	1	92	1	0	0	0	0	1	0	0	0	10335	1319	46	4	9	4	NDUFA3	19	54606193	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	196194	54606193	4522790	358	18122											
ZNF471	57573	broad.mit.edu	37	chr19	57035959	57035959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatctggaaaacatagaaGagagtatttataatcacaca	18	10	6	7	0	2	2	1	0	1	2	3	4	3	3	1	1	1	1	1	1	7	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:57035959G>A	ENST00000308031.5	+	5	656	c.523G>A	c.(523-525)Gag>Aag	p.E175K	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AAACATAGAAGAGAGTATTTA	0.284													3	28					0	0	0	0	A	57035959	G	A	57035959	3	1	92	1	0	0	0	0	1	0	0	0	18025	943	33	2	537	2	ZNF471	19	57035959	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2429766	57035959	2093024	359	18123											
ZNF470	388566	broad.mit.edu	37	chr19	57088415	57088415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaattttcatacagataaGaaaagcttaaaaacacattc	19	13	3	6	0	1	2	1	0	0	2	2	2	1	2	0	0	3	1	0	0	8	8			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:57088415G>C	ENST00000330619.8	+	6	1304	c.618G>C	c.(616-618)aaG>aaC	p.K206N	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.K206N	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATACAGATAAGAAAAGCTTAA	0.289													23	19					0	0	0	0	C	57088415	G	C	57088415	3	2	92	1	0	0	0	0	1	0	0	0	18024	933	33	2	632	2	ZNF470	19	57088415	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	52456	57088415	2040568	360	18124											
ZNF835	90485	broad.mit.edu	37	chr19	57175000	57175000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccagggcacccctgttGacaggtttctcctccctgtg	4	12	10	15	0	2	1	0	1	2	0	4	1	3	1	5	2	1	3	5	2	0	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:57175000G>T	ENST00000537055.2	-	2	1798	c.1567C>A	c.(1567-1569)Caa>Aaa	p.Q523K		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CACCCCTGTTGACAGGTTTCT	0.582													18	63					9.16793e-09	9.72964e-09	1	0	T	57175000	G	T	57175000	3	4	92	1	0	0	0	0	1	0	0	0	18279	1299	45	2	48	2	ZNF835	19	57175000	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	86585	57175000	1953983	361	18125											
CDC25B	994	broad.mit.edu	37	chr20	3782998	3782998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcctggacagtgaccaccGagagctgattggagattact	10	9	11	11	1	0	4	0	2	0	2	1	7	1	5	4	2	2	1	4	2	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:3782998G>A	ENST00000245960.5	+	11	1866	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	CDC25B_ENST00000340833.4_Missense_Mutation_p.R349Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.R326Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.R299Q|CDC25B_ENST00000439880.2_Missense_Mutation_p.R376Q|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	390					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AGTGACCACCGAGAGCTGATT	0.567													13	22					0	0	0	0	A	3782998	G	A	3782998	3	1	92	1	0	0	0	0	1	0	0	0	3092	1058	37	1	1211	1	CDC25B	20	3782998	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08		3782998	59242522	362	18126											
FLRT3	23767	broad.mit.edu	37	chr20	14306766	14306766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggctgtgaccaagtactCactgcgttcccctgttacaa	9	10	9	13	1	1	1	1	1	0	0	2	1	2	1	3	1	3	4	3	1	4	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:14306766C>G	ENST00000378053.3	-	2	1643	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.E463Q|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	463	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ACCAAGTACTCACTGCGTTCC	0.468													16	32					0	0	0	0	G	14306766	C	G	14306766	3	3	92	1	0	0	0	0	1	0	0	0	5985	835	29	2	566	2	FLRT3	20	14306766	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	10523768	14306766	48718754	363	18127											
XKR7	343702	broad.mit.edu	37	chr20	30584930	30584930	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacccgctgacgccatcacGagtccccccaggtccctgcc	6	5	8	22	3	1	1	1	1	0	0	3	2	3	1	8	1	1	1	8	1	0	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:30584930G>A	ENST00000217299.3	+	3	1584	c.1410G>A	c.(1408-1410)acG>acA	p.T470T		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	470						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACGCCATCACGAGTCCCCCCA	0.682													14	25					0	0	0	0	A	30584930	G	A	30584930	2	1	92	1	0	0	0	0	0	0	0	1	17532	1045	37	1		1	XKR7	20	30584930	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	16278164	30584930	32440590	364	18128											
MAPRE1	22919	broad.mit.edu	37	chr20	31413815	31413815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcctggatcaatgagtctCtgcagttgaatctgacaaag	11	11	11	8	0	3	3	1	3	2	0	4	4	3	4	1	2	1	2	1	2	3	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:31413815C>G	ENST00000375571.5	+	2	221	c.82C>G	c.(82-84)Ctg>Gtg	p.L28V		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	28	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						CAATGAGTCTCTGCAGTTGAA	0.433													43	73					0	0	0	0	G	31413815	C	G	31413815	3	3	92	1	0	0	0	0	1	0	0	0	9363	912	32	2	84	2	MAPRE1	20	31413815	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	828885	31413815	31611705	365	18129											
SPAG4	6676	broad.mit.edu	37	chr20	34207645	34207646	+	Frame_Shift_Ins	INS	-	-	C																															caccggaggagccaacagcgINSccccccgcgatttcgcggtc																								rs76103999		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:34207645_34207646insC	ENST00000374273.3	+	10	1166_1167	c.1054_1055insC	c.(1054-1056)cccfs	p.P352fs		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	352	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AGCCAACAGCGCCCCCCGCGAT	0.624													12	61	---	---	---	---					C	34207646	-	C	34207645	7	5	92	1	0	1	1	0	0	0	0	0	15070	1087	38	0	1092	0	SPAG4	20	34207645	Frame_Shift_Ins	INS	-	TCGA-CN-6011-01A-11D-1683-08	2793830	34207645	28817875	366	18130											
PTPRT	11122	broad.mit.edu	37	chr20	40980903	40980903	+	Missense_Mutation	SNP	G	G	A																															ggtcagcacttgggtccagcGagccgacagccttgtagttg																										TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:40980903G>A	ENST00000373198.3	-	10	1818	c.1583C>T	c.(1582-1584)tCg>tTg	p.S528L	PTPRT_ENST00000373193.3_Missense_Mutation_p.S528L|PTPRT_ENST00000373184.1_Missense_Mutation_p.S528L|PTPRT_ENST00000373201.1_Missense_Mutation_p.S528L|PTPRT_ENST00000373190.1_Missense_Mutation_p.S528L|PTPRT_ENST00000356100.2_Missense_Mutation_p.S528L|PTPRT_ENST00000373187.1_Missense_Mutation_p.S528L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	528	Fibronectin type-III 3.				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)				TGGGTCCAGCGAGCCGACAGC	0.532													10	48					0	0	0	0	A	40980903	G	A	40980903	3	1	92	1	0	0	0	0	1	0	0	0	12894	1059	37	1	2891	1	PTPRT	20	40980903	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	6773258	40980903	22044617	367	18131	147	2									
PTPRT	11122	broad.mit.edu	37	chr20	40980908	40980908	+	Silent	SNP	G	G	T																															gcacttgggtccagcgagccGacagccttgtagttgatctg																								rs9941770		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:40980908G>T	ENST00000373198.3	-	10	1813	c.1578C>A	c.(1576-1578)gtC>gtA	p.V526V	PTPRT_ENST00000373193.3_Silent_p.V526V|PTPRT_ENST00000373184.1_Silent_p.V526V|PTPRT_ENST00000373201.1_Silent_p.V526V|PTPRT_ENST00000373190.1_Silent_p.V526V|PTPRT_ENST00000356100.2_Silent_p.V526V|PTPRT_ENST00000373187.1_Silent_p.V526V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	526	Fibronectin type-III 3.				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)				CCAGCGAGCCGACAGCCTTGT	0.522													10	48					1.05317e-09	1.12261e-09	1	0	T	40980908	G	T	40980908	2	4	92	1	0	0	0	0	0	0	0	1	12894	1045	37	3		3	PTPRT	20	40980908	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	5	40980908	22044612	368	18132	147	2									
SYCP2	10388	broad.mit.edu	37	chr20	58441392	58441392	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaagactgtgaatctttttCaaaattctccagctcctcta	12	15	4	10	0	4	2	1	1	3	1	6	2	5	2	2	0	1	1	2	0	6	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:58441392C>G	ENST00000357552.3	-	41	4501	c.4276G>C	c.(4276-4278)Gaa>Caa	p.E1426Q	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1426Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1426					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.E1426K(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GAATCTTTTTCAAAATTCTCC	0.234													14	60					0	0	0	0	G	58441392	C	G	58441392	3	3	92	1	0	0	0	0	1	0	0	0	15523	835	29	2	336	2	SYCP2	20	58441392	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	17460484	58441392	4584128	369	18133											
CDH26	60437	broad.mit.edu	37	chr20	58547156	58547156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaccgccctgtcgatcGagaaatgacaccatctttca	10	11	7	13	3	3	2	2	1	1	1	5	4	3	2	3	0	0	1	3	0	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:58547156G>T	ENST00000348616.4	+	4	671	c.371G>T	c.(370-372)cGa>cTa	p.R124L	CDH26_ENST00000244047.5_Missense_Mutation_p.R124L	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	124	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			CCTGTCGATCGAGAAATGACA	0.383													15	49					3.52763e-06	3.70325e-06	1	0	T	58547156	G	T	58547156	3	4	92	1	0	0	0	0	1	0	0	0	3139	1058	37	3	385	3	CDH26	20	58547156	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	105764	58547156	4478364	370	18134											
DIDO1	11083	broad.mit.edu	37	chr20	61511034	61511034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctctttgggccccacgtCaaaccgctctctctgcctcc	4	12	6	19	2	4	0	1	0	3	0	7	0	5	0	5	1	2	1	5	1	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:61511034C>G	ENST00000266070.4	-	16	6599	c.6274G>C	c.(6274-6276)Gac>Cac	p.D2092H	DIDO1_ENST00000395343.1_Missense_Mutation_p.D2092H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2092					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGCCCCACGTCAAACCGCTCT	0.672													42	270					0	0	0	0	G	61511034	C	G	61511034	3	3	92	1	0	0	0	0	1	0	0	0	4559	826	29	2	452	2	DIDO1	20	61511034	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	2963878	61511034	1514486	371	18135											
ARFRP1	10139	broad.mit.edu	37	chr20	62338354	62338354	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggcgtgggcactcaccgtCttcccagcattgtccaggcc	6	8	12	15	2	2	0	1	0	1	0	4	0	4	0	4	3	1	2	4	3	0	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:62338354C>G	ENST00000359715.4	-	1	656	c.90G>C	c.(88-90)aaG>aaC	p.K30N	ARFRP1_ENST00000440854.1_Missense_Mutation_p.K30N|ARFRP1_ENST00000324228.2_Missense_Mutation_p.K30N			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	30					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CACTCACCGTCTTCCCAGCAT	0.607													7	22					0	0	0	0	G	62338354	C	G	62338354	3	3	92	1	0	0	0	0	1	0	0	0	858	912	32	2	547	2	ARFRP1	20	62338354	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	827320	62338354	687166	372	18136											
ZBTB46	140685	broad.mit.edu	37	chr20	62421736	62421736	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatgtccagcgccgccttGatgaagtcgtggcaggcttg	6	10	14	11	3	0	3	0	3	0	0	2	3	1	3	3	2	1	2	3	2	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:62421736G>C	ENST00000245663.4	-	2	525	c.375C>G	c.(373-375)atC>atG	p.I125M	ZBTB46_ENST00000302995.2_Missense_Mutation_p.I125M|ZBTB46_ENST00000395104.1_Missense_Mutation_p.I125M	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCGCCGCCTTGATGAAGTCGT	0.612													5	22					0	0	0	0	C	62421736	G	C	62421736	3	2	92	1	0	0	0	0	1	0	0	0	17642	1280	45	2	1410	2	ZBTB46	20	62421736	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	83382	62421736	603784	373	18137											
TPTE	7179	broad.mit.edu	37	chr21	10951399	10951399	+	Missense_Mutation	SNP	C	C	T																															ggcaaggatgagagtgacatCcagtaagaccaggaaaactc																										TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:10951399C>T	ENST00000298232.7	-	9	626	c.259G>A	c.(259-261)Gat>Aat	p.D87N	TPTE_ENST00000342420.5_Missense_Mutation_p.D67N|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.D105N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	105					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAGTGACATCCAGTAAGACC	0.328													18	113					0	0	0	0	T	10951399	C	T	10951399	3	4	92	1	0	0	0	0	1	0	0	0	16525	855	30	2	1402	2	TPTE	21	10951399	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08		10951399	37178496	374	18138	148	2									
TPTE	7179	broad.mit.edu	37	chr21	10951400	10951400	+	Silent	SNP	C	C	T																															gcaaggatgagagtgacatcCagtaagaccaggaaaactcc																										TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:10951400C>T	ENST00000298232.7	-	9	625	c.258G>A	c.(256-258)ctG>ctA	p.L86L	TPTE_ENST00000342420.5_Silent_p.L66L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.L104L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	104					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAGTGACATCCAGTAAGACCA	0.328													18	113					0	0	0	0	T	10951400	C	T	10951400	2	4	92	1	0	0	0	0	0	0	0	1	16525	581	21	4		4	TPTE	21	10951400	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1	10951400	37178495	375	18139	148	2									
BAGE2	85319	broad.mit.edu	37	chr21	11049475	11049475	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttctggcacactttgcactCaggacattgccaacctgcac	9	10	8	14	0	2	0	1	0	1	0	2	1	2	1	2	2	4	4	2	2	1	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:11049475C>G	ENST00000470054.1	-	0	633									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTTGCACTCAGGACATTGC	0.423													4	139					0	0	0	0	G	11049475	C	G	11049475	1	3	92	0	1	0	0	0	0	0	0	0	1296	841	29	2		2	BAGE2	21	11049475	RNA	SNP	C	TCGA-CN-6011-01A-11D-1683-08	98075	11049475	37080420	376	18140											
KRTAP22-1	337979	broad.mit.edu	37	chr21	31973557	31973557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctactgcccatggtgttatGaaagatcttggttttctggc	7	15	11	8	0	2	2	0	1	2	1	2	2	2	2	1	3	2	3	1	3	3	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:31973557G>A	ENST00000334680.2	+	1	144	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K		NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	40						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						ATGGTGTTATGAAAGATCTTG	0.483													37	155					0	0	0	0	A	31973557	G	A	31973557	3	1	92	1	0	0	0	0	1	0	0	0	8592	1291	45	2	120	2	KRTAP22-1	21	31973557	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	20924082	31973557	16156338	377	18141											
SIM2	6493	broad.mit.edu	37	chr21	38072060	38072060	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggcgcgatgaaggagaagtCcaagaatgcggccaagacca	15	3	14	9	3	0	4	0	1	0	3	1	6	1	4	3	3	1	0	3	3	5	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:38072060C>G	ENST00000290399.6	+	1	627	c.14C>G	c.(13-15)tCc>tGc	p.S5C	SIM2_ENST00000430056.3_Missense_Mutation_p.S5C|AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000460783.1_3'UTR	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	5					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						AAGGAGAAGTCCAAGAATGCG	0.662													3	15					0	0	0	0	G	38072060	C	G	38072060	3	3	92	1	0	0	0	0	1	0	0	0	14412	855	30	2	16	2	SIM2	21	38072060	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	6098503	38072060	10057835	378	18142											
AGPAT3	56894	broad.mit.edu	37	chr21	45387862	45387862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggagtggtggtcctgcacgGagtgtacactgttcacggac	7	10	15	9	2	1	0	1	0	0	0	2	3	2	3	1	5	2	3	1	5	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:45387862G>A	ENST00000398063.2	+	3	706	c.214G>A	c.(214-216)Gag>Aag	p.E72K	AGPAT3_ENST00000291572.8_Missense_Mutation_p.E72K|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E72K|AGPAT3_ENST00000546158.1_Missense_Mutation_p.E72K|AGPAT3_ENST00000398061.1_Missense_Mutation_p.E72K|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Missense_Mutation_p.E72K	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	72					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GTCCTGCACGGAGTGTACACT	0.612													11	22					0	0	0	0	A	45387862	G	A	45387862	3	1	92	1	0	0	0	0	1	0	0	0	388	1175	41	2	220	2	AGPAT3	21	45387862	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	7315802	45387862	2742033	379	18143											
CABIN1	23523	broad.mit.edu	37	chr22	24563212	24563212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtgtgtggcagcagggccaGaagggtgtggcctatgacct	7	8	17	9	1	0	2	0	1	0	1	0	2	0	2	3	4	1	2	3	4	2	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:24563212G>A	ENST00000398319.2	+	32	5998	c.5613G>A	c.(5611-5613)caG>caA	p.Q1871Q	CABIN1_ENST00000337989.7_Silent_p.Q296Q|CABIN1_ENST00000405822.2_Silent_p.Q1792Q|CABIN1_ENST00000263119.5_Silent_p.Q1871Q|CABIN1_ENST00000485008.1_3'UTR	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1871					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCAGGGCCAGAAGGGTGTGG	0.617													3	43					0	0	0	0	A	24563212	G	A	24563212	2	1	92	1	0	0	0	0	0	0	0	1	2553	933	33	2		2	CABIN1	22	24563212	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08		24563212	26741354	380	18144											
NOL12	79159	broad.mit.edu	37	chr22	38084953	38084953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtgaccaccatcagtgAcctggacctctcgggggccc	7	6	11	17	2	2	2	1	2	1	0	3	3	2	3	6	3	0	0	6	3	0	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:38084953A>G	ENST00000359114.4	+	4	405	c.335A>G	c.(334-336)gAc>gGc	p.D112G	NOL12_ENST00000493862.1_3'UTR|RP1-37E16.12_ENST00000455236.1_RNA	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	112						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					ACCATCAGTGACCTGGACCTC	0.647													32	109					0	0	0	0	G	38084953	A	G	38084953	3	3	92	1	0	0	0	0	1	0	0	0	10592	275	10	5	349	5	NOL12	22	38084953	Missense_Mutation	SNP	A	TCGA-CN-6011-01A-11D-1683-08	13521741	38084953	13219613	381	18145											
MKL1	57591	broad.mit.edu	37	chr22	40816946	40816946	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagagctgctgctgctgcagGatcttggcgtaggatgagtc	8	10	15	8	1	1	2	0	1	1	1	2	4	1	4	0	3	5	6	0	3	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:40816946G>T	ENST00000396617.3	-	10	1376	c.786C>A	c.(784-786)atC>atA	p.I262I	MKL1_ENST00000407029.1_Silent_p.I262I|MKL1_ENST00000402042.1_Silent_p.I212I|MKL1_ENST00000355630.3_Silent_p.I262I			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	262					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						GCTGCTGCAGGATCTTGGCGT	0.602			T	RBM15	acute megakaryocytic leukemia								34	15					1.26612e-14	1.37068e-14	1	0	T	40816946	G	T	40816946	2	4	92	1	0	0	0	0	0	0	0	1	9670	1164	41	2		2	MKL1	22	40816946	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	2731993	40816946	10487620	382	18146											
MKL1	57591	broad.mit.edu	37	chr22	40816975	40816975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaggatgagtccatgggggGtgcccccctgtcctgcttct	4	11	14	12	0	1	1	0	1	1	0	3	2	3	2	5	4	2	2	5	4	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:40816975G>A	ENST00000396617.3	-	10	1347	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S	MKL1_ENST00000407029.1_Missense_Mutation_p.P253S|MKL1_ENST00000402042.1_Missense_Mutation_p.P203S|MKL1_ENST00000355630.3_Missense_Mutation_p.P253S			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	253	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						TCCATGGGGGGTGCCCCCCTG	0.592			T	RBM15	acute megakaryocytic leukemia								32	25					0	0	0	0	A	40816975	G	A	40816975	3	1	92	1	0	0	0	0	1	0	0	0	9670	1261	44	4	2062	4	MKL1	22	40816975	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	29	40816975	10487591	383	18147											
SBF1	6305	broad.mit.edu	37	chr22	50904631	50904631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccccaatgatgaagggcGtgggtgtgctgaggacctcc	8	8	15	10	1	0	4	0	4	0	0	1	5	1	5	4	3	1	1	4	3	2	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:50904631G>A	ENST00000380817.2	-	8	1028	c.845C>T	c.(844-846)aCg>aTg	p.T282M	SBF1_ENST00000390679.3_Missense_Mutation_p.T282M|SBF1_ENST00000348911.6_Missense_Mutation_p.T283M	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	282	DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GATGAAGGGCGTGGGTGTGCT	0.652													20	42					0	0	0	0	A	50904631	G	A	50904631	3	1	92	1	0	0	0	0	1	0	0	0	13944	1145	40	1	4972	1	SBF1	22	50904631	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	10087656	50904631	399935	384	18148											
ASMTL	8623	broad.mit.edu	37	chrX	1546872	1546872	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gacactccgccgcaggtcctCcggacggggcgggtagtaga	7	5	16	13	5	0	1	0	0	0	1	3	3	3	2	4	5	0	3	4	5	2	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:1546872C>G	ENST00000534940.1	-	7	703	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	ASMTL_ENST00000381333.4_Missense_Mutation_p.E202Q|ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Missense_Mutation_p.E142Q|ASMTL_ENST00000381317.3_Missense_Mutation_p.E218Q	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	218	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGCAGGTCCTCCGGACGGGGC	0.647													16	40					0	0	0	0	G	1546872	C	G	1546872	3	3	92	1	0	0	0	0	1	0	0	0	1050	864	30	2	1241	2	ASMTL	23	1546872	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08		1546872	153723688	385	18149											
NHS	4810	broad.mit.edu	37	chrX	17745088	17745088	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctggctcctaaatgacttGaaaacaaatgatccttatag	14	12	6	9	0	1	3	0	3	1	0	3	3	3	3	2	1	1	1	2	1	7	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:17745088G>C	ENST00000380060.3	+	6	3137	c.2799G>C	c.(2797-2799)ttG>ttC	p.L933F	NHS_ENST00000398097.3_Missense_Mutation_p.L777F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	933						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TAAATGACTTGAAAACAAATG	0.423													82	19					0	0	0	0	C	17745088	G	C	17745088	3	2	92	1	0	0	0	0	1	0	0	0	10481	1281	45	2	2926	2	NHS	23	17745088	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	16198216	17745088	137525472	386	18150											
SCML1	6322	broad.mit.edu	37	chrX	17762333	17762333	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctaacagctccagtgaaatCgatgtggtttgtattcaaat	12	14	8	7	1	2	1	1	1	1	0	4	2	3	1	1	1	2	3	1	1	4	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:17762333C>G	ENST00000380043.3	+	2	355	c.27C>G	c.(25-27)atC>atG	p.I9M	SCML1_ENST00000380045.3_Intron|SCML1_ENST00000398080.1_Intron|SCML1_ENST00000380041.3_Missense_Mutation_p.I9M	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	9					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.I9M(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CCAGTGAAATCGATGTGGTTT	0.328													19	29					0	0	0	0	G	17762333	C	G	17762333	3	3	92	1	0	0	0	0	1	0	0	0	13996	874	31	3	29	3	SCML1	23	17762333	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	17245	17762333	137508227	387	18151											
SCML1	6322	broad.mit.edu	37	chrX	17768106	17768106	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtttacgagacattctcCtaccctgaaagttacagccc	11	10	8	12	1	1	2	0	1	1	1	2	4	1	2	3	1	4	2	3	1	4	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:17768106C>G	ENST00000380043.3	+	5	643	c.315C>G	c.(313-315)tcC>tcG	p.S105S	SCML1_ENST00000380045.3_Silent_p.S11S|SCML1_ENST00000398080.1_Silent_p.S11S|SCML1_ENST00000380041.3_Silent_p.S132S	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	132					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					AGACATTCTCCTACCCTGAAA	0.418													32	56					0	0	0	0	G	17768106	C	G	17768106	2	3	92	1	0	0	0	0	0	0	0	1	13996	668	24	4		4	SCML1	23	17768106	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	5773	17768106	137502454	388	18152											
MAGEB16	139604	broad.mit.edu	37	chrX	35820840	35820840	+	Missense_Mutation	SNP	C	C	G																															tgtggtggaggtggaccccaCcacccattgctatggcctct																										TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:35820840C>G	ENST00000399989.1	+	2	806	c.527C>G	c.(526-528)aCc>aGc	p.T176S	MAGEB16_ENST00000399988.1_Missense_Mutation_p.T176S|MAGEB16_ENST00000399985.1_Missense_Mutation_p.T176S|MAGEB16_ENST00000399992.1_Missense_Mutation_p.T208S|MAGEB16_ENST00000399987.1_Missense_Mutation_p.T176S	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	176	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTGGACCCCACCACCCATTGC	0.507													8	17					0	0	0	0	G	35820840	C	G	35820840	3	3	92	1	0	0	0	0	1	0	0	0	9243	507	18	4	529	4	MAGEB16	23	35820840	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	18052734	35820840	119449720	389	18153	149	2									
MAGEB16	139604	broad.mit.edu	37	chrX	35820841	35820841	+	Silent	SNP	C	C	A																															gtggtggaggtggaccccacCacccattgctatggcctctt																										TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:35820841C>A	ENST00000399989.1	+	2	807	c.528C>A	c.(526-528)acC>acA	p.T176T	MAGEB16_ENST00000399988.1_Silent_p.T176T|MAGEB16_ENST00000399985.1_Silent_p.T176T|MAGEB16_ENST00000399992.1_Silent_p.T208T|MAGEB16_ENST00000399987.1_Silent_p.T176T	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	176	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TGGACCCCACCACCCATTGCT	0.512													8	17					0.00136819	0.00140588	1	0	A	35820841	C	A	35820841	2	1	92	1	0	0	0	0	0	0	0	1	9243	581	21	4		4	MAGEB16	23	35820841	Silent	SNP	C	TCGA-CN-6011-01A-11D-1683-08	1	35820841	119449719	390	18154	149	2									
ATRX	546	broad.mit.edu	37	chrX	76776376	76776376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtacttgggcctctgagaGattcatgttctccttccact	6	15	8	12	0	3	2	1	1	2	1	5	3	4	2	3	1	1	2	3	1	1	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:76776376G>A	ENST00000373344.5	-	34	7304	c.7090C>T	c.(7090-7092)Ctc>Ttc	p.L2364F	ATRX_ENST00000395603.3_Missense_Mutation_p.L2326F|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2364					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GCCTCTGAGAGATTCATGTTC	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						21	12					0	0	0	0	A	76776376	G	A	76776376	3	1	92	1	0	0	0	0	1	0	0	0	1212	942	33	2	396	2	ATRX	23	76776376	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	40955535	76776376	78494184	391	18155											
LPAR4	2846	broad.mit.edu	37	chrX	78010388	78010388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtgacagaagattcattGacttccaattccaagattca	13	12	8	8	0	2	5	2	2	0	3	4	5	4	5	2	1	0	0	2	1	3	5			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:78010388G>A	ENST00000435339.2	+	2	427	c.22G>A	c.(22-24)Gac>Aac	p.D8N	RP11-475D8.1_ENST00000514744.1_RNA|LPAR4_ENST00000373301.2_Missense_Mutation_p.D8N	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	8						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						AAGATTCATTGACTTCCAATT	0.438													14	23					0	0	0	0	A	78010388	G	A	78010388	3	1	92	1	0	0	0	0	1	0	0	0	8971	1290	45	2	24	2	LPAR4	23	78010388	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	1234012	78010388	77260172	392	18156											
DRP2	1821	broad.mit.edu	37	chrX	100496666	100496666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttgcagatacctcccCgaaacagcggatccagaatc	11	8	7	15	2	1	2	0	0	1	2	5	4	4	3	5	1	4	1	5	1	3	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:100496666C>T	ENST00000395209.3	+	7	1096	c.569C>T	c.(568-570)cCg>cTg	p.P190L	DRP2_ENST00000402866.1_Missense_Mutation_p.P190L|DRP2_ENST00000541709.1_Missense_Mutation_p.P112L|DRP2_ENST00000538510.1_Missense_Mutation_p.P190L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	190					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GATACCTCCCCGAAACAGCGG	0.547													10	39					0	0	0	0	T	100496666	C	T	100496666	3	4	92	1	0	0	0	0	1	0	0	0	4800	652	23	1	587	1	DRP2	23	100496666	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	22486278	100496666	54773894	393	18157											
NRK	203447	broad.mit.edu	37	chrX	105179293	105179293	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaaggagttcacttctGagatctgctgtggttctttg	9	15	11	6	0	4	2	1	2	3	1	4	4	4	3	0	2	1	3	0	2	2	4			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:105179293G>T	ENST00000428173.2	+	21	3937	c.3634G>T	c.(3634-3636)Gag>Tag	p.E1212*	NRK_ENST00000243300.9_Nonsense_Mutation_p.E1211*			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1211	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GTTCACTTCTGAGATCTGCTG	0.353										HNSCC(51;0.14)			20	11					5.03518e-11	5.4028e-11	1	0	T	105179293	G	T	105179293	4	4	92	1	0	0	0	0	0	1	0	0	10726	1291	45	2	3713	2	NRK	23	105179293	Nonsense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	4682627	105179293	50091267	394	18158											
LUZP4	51213	broad.mit.edu	37	chrX	114540829	114540829	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatcaaggccagtcagagggGaaccagcatcaatcagaagg	16	4	12	9	0	4	2	4	0	0	2	4	3	4	3	2	4	2	1	2	4	5	0			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:114540829G>A	ENST00000371920.3	+	4	409	c.402G>A	c.(400-402)ggG>ggA	p.G134G	LUZP4_ENST00000451986.2_Silent_p.G52G	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	134						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AGTCAGAGGGGAACCAGCATC	0.433													18	24					0	0	0	0	A	114540829	G	A	114540829	2	1	92	1	0	0	0	0	0	0	0	1	9152	1161	41	2		2	LUZP4	23	114540829	Silent	SNP	G	TCGA-CN-6011-01A-11D-1683-08	9361536	114540829	40729731	395	18159											
GLUD2	2747	broad.mit.edu	37	chrX	120183061	120183061	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagaaagacattgtgcactCtgccttggcatacacaatgg	12	10	10	9	0	1	2	0	1	1	2	1	3	1	2	1	2	3	2	1	2	3	3			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:120183061C>G	ENST00000328078.1	+	1	1600	c.1523C>G	c.(1522-1524)tCt>tGt	p.S508C		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	508					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATTGTGCACTCTGCCTTGGCA	0.463													31	24					0	0	0	0	G	120183061	C	G	120183061	3	3	92	1	0	0	0	0	1	0	0	0	6528	913	32	2	1525	2	GLUD2	23	120183061	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	5642232	120183061	35087499	396	18160											
GPR112	139378	broad.mit.edu	37	chrX	135427079	135427079	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagacaacatctttattttCaactattgagtcaacatcta	15	14	4	8	0	4	2	2	1	2	1	4	3	4	2	0	0	3	0	0	0	7	7			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:135427079C>G	ENST00000394143.1	+	6	1505	c.1214C>G	c.(1213-1215)tCa>tGa	p.S405*	GPR112_ENST00000370652.1_Nonsense_Mutation_p.S405*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.S342*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.S200*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.S200*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	405					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTTTATTTTCAACTATTGAG	0.388													25	49					0	0	0	0	G	135427079	C	G	135427079	4	3	92	1	0	0	0	0	0	1	0	0	6678	838	29	2	1224	2	GPR112	23	135427079	Nonsense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	15244018	135427079	19843481	397	18161											
CXorf40A	91966	broad.mit.edu	37	chrX	148628500	148628500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgatcccattggggcatGaagtgtgacaagtgtgggct	9	10	14	8	0	0	3	0	3	0	0	1	3	1	3	2	3	0	2	2	3	2	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:148628500G>C	ENST00000441248.1	+	4	2056	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	CXorf40A_ENST00000359293.5_Missense_Mutation_p.E157Q|CXorf40A_ENST00000423421.1_Missense_Mutation_p.E157Q|CXorf40A_ENST00000422892.2_Intron|CXorf40A_ENST00000423540.2_Missense_Mutation_p.E157Q|CXorf40A_ENST00000434353.2_Intron|CXorf40A_ENST00000514208.1_Intron|CXorf40A_ENST00000428236.1_Missense_Mutation_p.E95Q|CXorf40A_ENST00000393985.3_Missense_Mutation_p.E157Q|CXorf40A_ENST00000450602.2_Missense_Mutation_p.E157Q			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	157							protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ATTGGGGCATGAAGTGTGACA	0.478													4	11					0	0	0	0	C	148628500	G	C	148628500	3	2	92	1	0	0	0	0	1	0	0	0	4140	1291	45	2	475	2	CXorf40A	23	148628500	Missense_Mutation	SNP	G	TCGA-CN-6011-01A-11D-1683-08	13201421	148628500	6642060	398	18162											
CXorf40B	541578	broad.mit.edu	37	chrX	149100770	149100770	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcccacacttgtcacacttCatgccccaaagggatcaggt	11	8	8	14	0	3	0	3	0	0	0	3	1	3	1	3	2	2	0	3	2	1	2			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:149100770C>G	ENST00000370406.3	-	5	1297	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	CXorf40B_ENST00000355203.2_Missense_Mutation_p.E157Q|CXorf40B_ENST00000370404.1_Missense_Mutation_p.E157Q|CXorf40B_ENST00000462691.1_Intron			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	157										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCACACTTCATGCCCCAAA	0.483													13	84					0	0	0	0	G	149100770	C	G	149100770	3	3	92	1	0	0	0	0	1	0	0	0	4141	835	29	2	11	2	CXorf40B	23	149100770	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	472270	149100770	6169790	399	18163											
PLXNB3	5365	broad.mit.edu	37	chrX	153035337	153035337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttatgaggaggacagccaCtgcctgcacatccagagcct	11	7	11	12	0	0	2	0	1	0	1	1	4	1	4	4	2	4	2	4	2	1	1			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:153035337C>G	ENST00000538966.1	+	8	1912	c.1641C>G	c.(1639-1641)caC>caG	p.H547Q	PLXNB3_ENST00000361971.5_Missense_Mutation_p.H524Q|PLXNB3_ENST00000538282.1_Missense_Mutation_p.H134Q|PLXNB3_ENST00000538776.1_Missense_Mutation_p.H177Q|PLXNB3_ENST00000538543.1_Missense_Mutation_p.H74Q	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	524					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGACAGCCACTGCCTGCACA	0.687													4	7					0	0	0	0	G	153035337	C	G	153035337	3	3	92	1	0	0	0	0	1	0	0	0	12197	564	20	4	1712	4	PLXNB3	23	153035337	Missense_Mutation	SNP	C	TCGA-CN-6011-01A-11D-1683-08	3934567	153035337	2235223	400	18164											
PIK3CD	5293	broad.mit.edu	37	chr1	9784117	9784117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcattggcgatcggcaCagcgacaacatcatgatccg	10	7	12	12	4	1	1	1	1	0	0	3	3	2	1	1	3	2	2	1	3	1	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:9784117C>T	ENST00000536656.1	+	21	2965	c.2757C>T	c.(2755-2757)caC>caT	p.H919H	PIK3CD_ENST00000361110.2_Silent_p.H919H|PIK3CD_ENST00000377346.4_Silent_p.H895H			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	895	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GCGATCGGCACAGCGACAACA	0.632													57	54					0	0	0	0	T	9784117	C	T	9784117	2	4	93	1	0	0	0	0	0	0	0	1	11987	477	17	4		4	PIK3CD	1	9784117	Silent	SNP	C	TCGA-CN-6012-01A-11D-1683-08		9784117	239466504	1	18165											
HFM1	164045	broad.mit.edu	37	chr1	91727880	91727880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagaatttgggtttttttCagagaaagtaaagcattgct	13	15	10	3	0	1	3	1	1	0	2	1	4	1	3	0	1	2	4	0	1	5	6			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:91727880C>T	ENST00000370425.3	-	38	4254	c.4156G>A	c.(4156-4158)Gaa>Aaa	p.E1386K	HFM1_ENST00000294696.5_3'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.E1065K|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1386							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GGGTTTTTTTCAGAGAAAGTA	0.284													10	58					0	0	0	0	T	91727880	C	T	91727880	3	4	93	1	0	0	0	0	1	0	0	0	7133	835	29	2	159	2	HFM1	1	91727880	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	81943763	91727880	157522741	2	18166											
HFM1	164045	broad.mit.edu	37	chr1	91728133	91728133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaagaaatatccgacatctCatgtgatgaaacaaaactaa	20	9	5	7	1	1	3	1	2	1	1	3	4	2	3	1	0	2	0	1	0	8	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:91728133C>G	ENST00000370425.3	-	37	4089	c.3991G>C	c.(3991-3993)Gag>Cag	p.E1331Q	HFM1_ENST00000294696.5_Missense_Mutation_p.M532I|HFM1_ENST00000370424.3_Missense_Mutation_p.E1010Q|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1331							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCCGACATCTCATGTGATGAA	0.308													8	59					0	0	0	0	G	91728133	C	G	91728133	3	3	93	1	0	0	0	0	1	0	0	0	7133	835	29	2	328	2	HFM1	1	91728133	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	253	91728133	157522488	3	18167											
FAM102B	284611	broad.mit.edu	37	chr1	109167328	109167328	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaatctttgcaagaagatAgaaaaggtggagagactctc	15	9	11	6	0	2	5	0	1	2	4	3	7	2	6	0	2	1	1	0	2	6	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:109167328A>G	ENST00000370035.3	+	6	854	c.514A>G	c.(514-516)Aga>Gga	p.R172G	FAM102B_ENST00000405454.1_Missense_Mutation_p.R172G	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	172										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GCAAGAAGATAGAAAAGGTGG	0.423													26	39					0	0	0	0	G	109167328	A	G	109167328	3	3	93	1	0	0	0	0	1	0	0	0	5424	412	15	5	536	5	FAM102B	1	109167328	Missense_Mutation	SNP	A	TCGA-CN-6012-01A-11D-1683-08	17439195	109167328	140083293	4	18168											
MEX3A	92312	broad.mit.edu	37	chr1	156046882	156046882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgtggggcctcaaagccaGagtccactccgcactcgccg	7	5	13	16	4	1	1	1	0	0	1	4	1	3	1	5	3	1	1	5	3	1	0			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:156046882G>A	ENST00000532414.2	-	2	1045	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	349						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTCAAAGCCAGAGTCCACTCC	0.672													6	84					0	0	0	0	A	156046882	G	A	156046882	3	1	93	1	0	0	0	0	1	0	0	0	9578	942	33	2	520	2	MEX3A	1	156046882	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	46879554	156046882	93203739	5	18169											
FCGR2B	2213	broad.mit.edu	37	chr1	161642856	161642856	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaaggacaagcctctggtCaaggtcacattcttccagaa	12	9	10	10	0	4	1	2	0	2	1	5	3	5	3	2	4	1	0	2	4	4	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:161642856C>G	ENST00000367962.4	+	4	610	c.483C>G	c.(481-483)gtC>gtG	p.V161V	FCGR2B_ENST00000428605.2_Silent_p.V161V|FCGR2B_ENST00000403078.3_Silent_p.V161V|FCGR2B_ENST00000367960.5_Silent_p.V154V|FCGR2B_ENST00000367961.4_Silent_p.V154V|FCGR2B_ENST00000358671.5_Silent_p.V161V|FCGR2B_ENST00000236937.9_Silent_p.V161V|RP11-25K21.1_ENST00000453111.1_RNA			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	161	Ig-like C2-type 2.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCCTCTGGTCAAGGTCACAT	0.522			T	?	ALL								7	22					0	0	0	0	G	161642856	C	G	161642856	2	3	93	1	0	0	0	0	0	0	0	1	5827	813	29	2		2	FCGR2B	1	161642856	Silent	SNP	C	TCGA-CN-6012-01A-11D-1683-08	5595974	161642856	87607765	6	18170											
ASPM	259266	broad.mit.edu	37	chr1	197091047	197091047	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatattctaggagtacctGatggcgtttgagatctgttt	8	17	10	6	1	3	2	1	2	2	1	3	4	3	3	1	2	1	3	1	2	3	7			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:197091047G>A	ENST00000367409.4	-	16	4124	c.3868C>T	c.(3868-3870)Cag>Tag	p.Q1290*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.Q1290*|ASPM_ENST00000367408.1_Nonsense_Mutation_p.Q540*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1290					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGGAGTACCTGATGGCGTTTG	0.318													4	61					0	0	0	0	A	197091047	G	A	197091047	4	1	93	1	0	0	0	0	0	1	0	0	1060	1299	45	2	6617	2	ASPM	1	197091047	Nonsense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	35448191	197091047	52159574	7	18171											
FMN2	56776	broad.mit.edu	37	chr1	240256692	240256692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccacccggcagctcagctCgcccaatcactccccgtctc	7	6	6	22	3	3	0	2	0	1	0	6	0	4	0	5	1	2	3	5	1	1	0			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:240256692C>T	ENST00000319653.9	+	1	1513	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	428					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGCTCAGCTCGCCCAATCAC	0.667													6	64					0	0	0	0	T	240256692	C	T	240256692	3	4	93	1	0	0	0	0	1	0	0	0	5995	893	31	1	1285	1	FMN2	1	240256692	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	43165645	240256692	8993929	8	18172											
EXO1	9156	broad.mit.edu	37	chr1	242016725	242016725	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggggaaagtctcggaagctcGagagtgtttcacccggtcta	9	9	14	9	3	3	1	1	0	2	1	5	4	3	3	1	4	1	2	1	4	3	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:242016725G>C	ENST00000366548.3	+	6	940	c.347G>C	c.(346-348)cGa>cCa	p.R116P	EXO1_ENST00000348581.5_Missense_Mutation_p.R116P|EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000518483.1_Missense_Mutation_p.R116P	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	116					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TCGGAAGCTCGAGAGTGTTTC	0.423								Editing and processing nucleases					12	85					0	0	0	0	C	242016725	G	C	242016725	3	2	93	1	0	0	0	0	1	0	0	0	5337	1058	37	3	357	3	EXO1	1	242016725	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	1760033	242016725	7233896	9	18173											
C1orf101	257044	broad.mit.edu	37	chr1	244641251	244641251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcctcacctggtgttcacGctataaaaccaattgttact	10	14	6	11	1	2	0	2	0	0	0	3	0	3	0	3	1	2	4	3	1	5	6			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:244641251G>A	ENST00000366534.4	+	4	286	c.232G>A	c.(232-234)Gct>Act	p.A78T	C1orf101_ENST00000366531.3_5'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.A78T|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	78						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TGGTGTTCACGCTATAAAACC	0.318													6	84					0	0	0	0	A	244641251	G	A	244641251	3	1	93	1	0	0	0	0	1	0	0	0	1995	1087	38	1	246	1	C1orf101	1	244641251	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	2624526	244641251	4609370	10	18174											
ZNF692	55657	broad.mit.edu	37	chr1	249152190	249152190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggaggggagcaggaccctCggaggccacaagtcacacag	12	2	16	11	1	1	0	1	0	0	0	2	5	1	4	2	6	1	1	2	6	1	0			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:249152190C>T	ENST00000391820.3	-	3	420	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	ZNF692_ENST00000427146.1_Intron|ZNF692_ENST00000366469.5_Intron|ZNF692_ENST00000366471.3_Intron|ZNF692_ENST00000451251.1_Intron|ZNF692_ENST00000306601.4_Intron			Q9BU19	ZN692_HUMAN	zinc finger protein 692	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCAGGACCCTCGGAGGCCACA	0.632													4	2					0	0	0	0	T	249152190	C	T	249152190	3	4	93	1	0	0	0	0	1	0	0	0	18192	899	31	1		1	ZNF692	1	249152190	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	4510939	249152190	98431	11	18175											
HADHA	3030	broad.mit.edu	37	chr2	26455030	26455030	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggggatgttagactcaccaTtttgggcagcctttgtgtgc	7	13	13	8	0	1	1	1	0	0	1	1	2	1	2	2	3	2	2	2	3	1	4			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:26455030T>C	ENST00000380649.3	-	6	700	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	HADHA_ENST00000457468.2_Missense_Mutation_p.M104V	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	191					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	AGACTCACCATTTTGGGCAGC	0.398													13	31					0	0	0	0	C	26455030	T	C	26455030	3	2	93	1	0	0	0	0	1	0	0	0	6993	1493	52	5	1780	5	HADHA	2	26455030	Missense_Mutation	SNP	T	TCGA-CN-6012-01A-11D-1683-08		26455030	216744343	12	18176											
KIF5C	3800	broad.mit.edu	37	chr2	149850992	149850992	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacatggaacagaagaggAggcagctagaagagtcccag	17	3	14	7	0	0	5	0	0	0	5	1	7	1	7	1	3	3	2	1	3	5	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:149850992A>G	ENST00000435030.1	+	17	2331	c.1963A>G	c.(1963-1965)Agg>Ggg	p.R655G	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.R560G|KIF5C_ENST00000397413.1_Missense_Mutation_p.R423G			O60282	KIF5C_HUMAN	kinesin family member 5C	655					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ACAGAAGAGGAGGCAGCTAGA	0.493													2	7					0	0	0	0	G	149850992	A	G	149850992	3	3	93	1	0	0	0	0	1	0	0	0	8358	295	11	5	1951	5	KIF5C	2	149850992	Missense_Mutation	SNP	A	TCGA-CN-6012-01A-11D-1683-08	123395962	149850992	93348381	13	18177											
RIF1	55183	broad.mit.edu	37	chr2	152289598	152289598	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttcttttaagatatactAtgtagtgcaaaaagactcaa	16	15	5	5	0	2	2	1	0	1	2	2	2	2	2	0	0	2	2	0	0	8	8			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:152289598A>G	ENST00000243326.4	+	9	1416	c.933A>G	c.(931-933)ctA>ctG	p.L311L	RIF1_ENST00000430328.2_Silent_p.L311L|RIF1_ENST00000453091.2_Silent_p.L311L|RIF1_ENST00000428287.2_Silent_p.L311L|RIF1_ENST00000433166.2_Silent_p.L280L|RIF1_ENST00000444746.2_Silent_p.L311L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	311					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGATATACTATGTAGTGCAA	0.358													8	32					0	0	0	0	G	152289598	A	G	152289598	2	3	93	1	0	0	0	0	0	0	0	1	13442	436	16	5		5	RIF1	2	152289598	Silent	SNP	A	TCGA-CN-6012-01A-11D-1683-08	2438606	152289598	90909775	14	18178											
NEB	4703	broad.mit.edu	37	chr2	152363454	152363454	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgattttcttttacaCgcagtatttctggcgtgtct	5	20	7	9	2	5	1	0	1	5	0	5	1	5	1	0	1	1	2	0	1	2	7			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:152363454C>T	ENST00000509223.2	-	0	21				NEB_ENST00000498015.2_5'UTR|NEB_ENST00000603639.1_Missense_Mutation_p.R7842H|NEB_ENST00000604864.1_Missense_Mutation_p.R7842H|NEB_ENST00000427231.2_Missense_Mutation_p.R7842H|NEB_ENST00000409198.1_Missense_Mutation_p.R6141H|NEB_ENST00000172853.10_Missense_Mutation_p.R6141H|NEB_ENST00000397345.3_Missense_Mutation_p.R7842H			P20929	NEBU_HUMAN	nebulin						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTTTACACGCAGTATTTC	0.318													24	54					0	0	0	0	T	152363454	C	T	152363454	1	4	93	1	0	0	0	0	0	0	0	0	10372	536	19	1		1	NEB	2	152363454	Translation_Start_Site	SNP	C	TCGA-CN-6012-01A-11D-1683-08	73856	152363454	90835919	15	18179											
ALPPL2	251	broad.mit.edu	37	chr2	233274348	233274348	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacccacgcaggcgaggaCgtggcggtgttcgcgcgcgg	6	4	19	12	8	0	1	0	0	0	1	1	4	0	2	1	5	0	2	1	5	0	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:233274348C>T	ENST00000295453.3	+	11	1417	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	455					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CAGGCGAGGACGTGGCGGTGT	0.662													5	18					0	0	0	0	T	233274348	C	T	233274348	2	4	93	1	0	0	0	0	0	0	0	1	549	535	19	1		1	ALPPL2	2	233274348	Silent	SNP	C	TCGA-CN-6012-01A-11D-1683-08	80910894	233274348	9925025	16	18180											
SELK	58515	broad.mit.edu	37	chr3	53919910	53919910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacgcagatgattgattctaCccattcttcggggagggttt	8	13	11	9	2	2	3	0	2	2	1	3	4	2	4	1	3	1	2	1	3	1	6			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:53919910C>T	ENST00000495461.1	-	4	423	c.224G>A	c.(223-225)gGt>gAt	p.G75D	SELK_ENST00000541726.1_Missense_Mutation_p.G75D			Q9Y6D0	SELK_HUMAN		75					response to oxidative stress	endoplasmic reticulum									BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ATTGATTCTACCCATTCTTCG	0.408													4	3					0	0	0	0	T	53919910	C	T	53919910	3	4	93	1	0	0	0	0	1	0	0	0	14102	507	18	4	68	4	SELK	3	53919910	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08		53919910	144102520	17	18181											
DZIP3	9666	broad.mit.edu	37	chr3	108344785	108344785	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtctttagtttattttGgacgtggtttactgcgatgt	6	21	10	4	2	1	0	0	0	1	0	1	2	1	1	0	2	2	2	0	2	4	9			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:108344785G>T	ENST00000361582.3	+	7	780	c.550G>T	c.(550-552)Gga>Tga	p.G184*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.G184*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	184					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGTTTATTTTGGACGTGGTTT	0.353													21	125					8.10497e-08	9.22474e-08	1	0	T	108344785	G	T	108344785	4	4	93	1	0	0	0	0	0	1	0	0	4901	1349	47	4	572	4	DZIP3	3	108344785	Nonsense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	54424875	108344785	89677645	18	18182											
ZDHHC23	254887	broad.mit.edu	37	chr3	113672564	113672564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatggattacatgtaaatCtttacagccagagacttgtg	13	13	9	6	0	1	2	0	0	1	2	1	4	1	3	1	1	3	1	1	1	5	6			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:113672564C>A	ENST00000330212.3	+	3	478	c.179C>A	c.(178-180)tCt>tAt	p.S60Y	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.S54Y	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	60						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ACATGTAAATCTTTACAGCCA	0.403													17	72					1.45105e-14	1.75547e-14	1	0	A	113672564	C	A	113672564	3	1	93	1	0	0	0	0	1	0	0	0	17709	913	32	2	185	2	ZDHHC23	3	113672564	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	5327779	113672564	84349866	19	18183											
POLQ	10721	broad.mit.edu	37	chr3	121186390	121186390	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggcacaaaggcatgtcGcatgctaattgaaaatggca	16	7	11	7	1	0	1	0	1	0	0	1	2	0	1	0	3	1	5	0	3	5	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:121186390G>A	ENST00000264233.5	-	24	7071	c.6943C>T	c.(6943-6945)Cga>Tga	p.R2315*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2315					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGGCATGTCGCATGCTAATT	0.443								DNA polymerases (catalytic subunits)					20	48					0	0	0	0	A	121186390	G	A	121186390	4	1	93	1	0	0	0	0	0	1	0	0	12280	1095	38	1	857	1	POLQ	3	121186390	Nonsense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	7513826	121186390	76836040	20	18184											
ADCY5	111	broad.mit.edu	37	chr3	123003507	123003507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtcatcatctcgcctttgCccttgaccttgaccacgccc	6	11	7	17	2	3	2	2	2	1	0	4	2	3	2	5	1	1	0	5	1	0	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:123003507C>T	ENST00000462833.1	-	21	4946	c.3734G>A	c.(3733-3735)gGc>gAc	p.G1245D	ADCY5_ENST00000309879.5_Missense_Mutation_p.G895D|ADCY5_ENST00000491190.1_Missense_Mutation_p.G903D	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1245					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTCGCCTTTGCCCTTGACCTT	0.612													5	288					0	0	0	0	T	123003507	C	T	123003507	3	4	93	1	0	0	0	0	1	0	0	0	297	739	26	4	55	4	ADCY5	3	123003507	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	1817117	123003507	75018923	21	18185											
ABTB1	80325	broad.mit.edu	37	chr3	127395182	127395182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaagccattccgggtgcatCgctgcgtcctgggtgcacgt	5	9	15	12	4	0	0	0	0	0	0	3	1	2	1	3	3	4	3	3	3	1	1	rs149260862		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:127395182C>T	ENST00000232744.8	+	5	474	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000453791.2_5'UTR			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	130	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CCGGGTGCATCGCTGCGTCCT	0.572													22	138					0	0	0	0	T	127395182	C	T	127395182	3	4	93	1	0	0	0	0	1	0	0	0	102	884	31	1	406	1	ABTB1	3	127395182	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	4391675	127395182	70627248	22	18186											
COL6A6	131873	broad.mit.edu	37	chr3	130380658	130380658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaccccagagccggagaCttctgtcactggagaccggg	10	6	12	13	2	3	3	2	0	1	3	3	5	3	3	4	3	1	0	4	3	1	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:130380658C>T	ENST00000358511.6	+	34	6039	c.6008C>T	c.(6007-6009)aCt>aTt	p.T2003I	COL6A6_ENST00000453409.2_Missense_Mutation_p.T2003I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2003	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAGCCGGAGACTTCTGTCACT	0.517													10	38					0	0	0	0	T	130380658	C	T	130380658	3	4	93	1	0	0	0	0	1	0	0	0	3733	565	20	4	6142	4	COL6A6	3	130380658	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	2985476	130380658	67641772	23	18187											
HPS3	84343	broad.mit.edu	37	chr3	148880100	148880100	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaacaaaattggaattgaaGaagcagattccttttttaag	17	12	7	5	0	0	3	0	1	0	2	1	4	1	4	1	1	2	1	1	1	7	6			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:148880100G>C	ENST00000296051.2	+	12	2412	c.2272G>C	c.(2272-2274)Gaa>Caa	p.E758Q	HPS3_ENST00000460120.1_Missense_Mutation_p.E593Q	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	758						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)			TGGAATTGAAGAAGCAGATTC	0.423									Hermansky-Pudlak syndrome				7	89					0	0	0	0	C	148880100	G	C	148880100	3	2	93	1	0	0	0	0	1	0	0	0	7390	943	33	2	2318	2	HPS3	3	148880100	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	18499442	148880100	49142330	24	18188											
SHOX2	6474	broad.mit.edu	37	chr3	157820503	157820503	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaggcccagtcgctggctCagttcctctcgcatgaaggc	7	8	12	14	2	2	1	1	1	1	0	5	2	3	1	2	3	0	4	2	3	1	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:157820503C>T	ENST00000490689.2	-	2	1665	c.132G>A	c.(130-132)ctG>ctA	p.L44L	SHOX2_ENST00000483851.2_Silent_p.L173L|SHOX2_ENST00000425436.3_Silent_p.L173L|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000441443.2_Silent_p.L44L|SHOX2_ENST00000389589.4_Silent_p.L197L			O60902	SHOX2_HUMAN	short stature homeobox 2	173					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTCGCTGGCTCAGTTCCTCTC	0.607													6	94					0	0	0	0	T	157820503	C	T	157820503	2	4	93	1	0	0	0	0	0	0	0	1	14377	813	29	2		2	SHOX2	3	157820503	Silent	SNP	C	TCGA-CN-6012-01A-11D-1683-08	8940403	157820503	40201927	25	18189											
MAGEF1	64110	broad.mit.edu	37	chr3	184429482	184429482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccccctcctccctcccgGcgccaagctcctccttgggg	3	7	9	22	2	0	0	0	0	0	0	5	0	5	0	8	3	2	1	8	3	1	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:184429482G>A	ENST00000317897.3	-	1	354	c.128C>T	c.(127-129)gCc>gTc	p.A43V		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	43										breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			CTCCCTCCCGGCGCCAAGCTC	0.751													7	49					0	0	0	0	A	184429482	G	A	184429482	3	1	93	1	0	0	0	0	1	0	0	0	9256	1203	42	4	799	4	MAGEF1	3	184429482	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	26608979	184429482	13592948	26	18190											
UBXN7	26043	broad.mit.edu	37	chr3	196089387	196089387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctacctcttcttcttcatCagagccacaaacggatatga	11	12	5	13	1	6	2	2	1	4	1	6	3	6	3	2	1	3	0	2	1	3	5			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:196089387C>T	ENST00000296328.4	-	9	1080	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	UBXN7_ENST00000535858.1_Missense_Mutation_p.D188N|UBXN7_ENST00000428095.1_Missense_Mutation_p.D174N	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	336							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TCTTCTTCATCAGAGCCACAA	0.443													19	148					0	0	0	0	T	196089387	C	T	196089387	3	4	93	1	0	0	0	0	1	0	0	0	17014	826	29	2	475	2	UBXN7	3	196089387	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	11659905	196089387	1933043	27	18191											
DHX15	1665	broad.mit.edu	37	chr4	24529592	24529592	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagtttggcaatgatgcgGtccaactgtctctttgcttc	7	15	10	9	1	1	2	0	2	1	0	4	2	2	2	1	2	3	3	1	2	3	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr4:24529592G>A	ENST00000336812.4	-	14	2499	c.2343C>T	c.(2341-2343)gaC>gaT	p.D781D	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	781					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CAATGATGCGGTCCAACTGTC	0.393													15	23					0	0	0	0	A	24529592	G	A	24529592	2	1	93	1	0	0	0	0	0	0	0	1	4538	1252	44	4		4	DHX15	4	24529592	Silent	SNP	G	TCGA-CN-6012-01A-11D-1683-08		24529592	166624684	28	18192											
ADAMTS3	9508	broad.mit.edu	37	chr4	73156643	73156643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccggcggctctcgggacGgtcacccatgcagtatttgc	5	8	15	13	4	2	0	1	0	1	0	3	1	2	1	2	5	2	3	2	5	1	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr4:73156643G>T	ENST00000286657.4	-	20	2896	c.2860C>A	c.(2860-2862)Cgt>Agt	p.R954S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	954	TSP type-1 3.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTCTCGGGACGGTCACCCATG	0.572													23	24					1.55795e-14	1.8717e-14	1	0	T	73156643	G	T	73156643	3	4	93	1	0	0	0	0	1	0	0	0	267	1116	39	3	769	3	ADAMTS3	4	73156643	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	48627051	73156643	117997633	29	18193											
FAT1	2195	broad.mit.edu	37	chr4	187539227	187539227	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacttggccgttggttcctGagtcagcatcagatgccctg	7	12	11	11	1	2	2	2	1	0	1	3	2	3	2	3	2	3	3	3	2	1	4			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr4:187539227G>T	ENST00000441802.2	-	10	8722	c.8513C>A	c.(8512-8514)tCa>tAa	p.S2838*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2838	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTGGTTCCTGAGTCAGCATC	0.448										HNSCC(5;0.00058)			26	33					1.38267e-23	1.73334e-23	1	0	T	187539227	G	T	187539227	4	4	93	1	0	0	0	0	0	1	0	0	5734	1294	45	2	5325	2	FAT1	4	187539227	Nonsense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	114382584	187539227	3615049	30	18194											
SLC9A3	6550	broad.mit.edu	37	chr5	484690	484690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtaggacaggtaggagaTgatgaacacgaagccgggct	13	5	16	7	2	0	3	0	2	0	1	0	6	0	4	1	5	2	3	1	5	4	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:484690T>C	ENST00000264938.3	-	5	886	c.877A>G	c.(877-879)Atc>Gtc	p.I293V	SLC9A3_ENST00000514375.1_Missense_Mutation_p.I293V	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	293						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGGTAGGAGATGATGAACACG	0.642													7	45					0	0	0	0	C	484690	T	C	484690	3	2	93	1	0	0	0	0	1	0	0	0	14801	1464	51	5	1679	5	SLC9A3	5	484690	Missense_Mutation	SNP	T	TCGA-CN-6012-01A-11D-1683-08		484690	180430570	31	18195											
IRX1	79192	broad.mit.edu	37	chr5	3599777	3599777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcgacgagcacgatggcGaccagagcaacgaggatgac	14	3	14	10	5	0	3	0	1	0	2	1	9	0	4	1	2	3	2	1	2	1	0			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:3599777G>T	ENST00000302006.3	+	2	767	c.715G>T	c.(715-717)Gac>Tac	p.D239Y	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	239						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCACGATGGCGACCAGAGCAA	0.662													13	28					6.31663e-08	7.23693e-08	1	0	T	3599777	G	T	3599777	3	4	93	1	0	0	0	0	1	0	0	0	7896	1058	37	3	721	3	IRX1	5	3599777	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	3115087	3599777	177315483	32	18196											
CDH18	1016	broad.mit.edu	37	chr5	19483429	19483429	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaggagaatgagaacacaGagaagaatagcgattaaggc	18	4	12	7	1	0	4	0	1	0	4	0	8	0	4	1	2	2	0	1	2	6	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:19483429G>A	ENST00000507958.1	-	14	2853	c.1863C>T	c.(1861-1863)ctC>ctT	p.L621L	CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_Silent_p.L621L|CDH18_ENST00000274170.4_Silent_p.L621L			Q13634	CAD18_HUMAN	cadherin 18, type 2	621					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)					TGAGAACACAGAGAAGAATAG	0.463													11	21					0	0	0	0	A	19483429	G	A	19483429	2	1	93	1	0	0	0	0	0	0	0	1	3132	929	33	2		2	CDH18	5	19483429	Silent	SNP	G	TCGA-CN-6012-01A-11D-1683-08	15883652	19483429	161431831	33	18197											
PRDM9	56979	broad.mit.edu	37	chr5	23510095	23510095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaactccaggtggatgAcacagaagattctgatgaag	15	8	10	8	0	2	5	1	3	1	2	3	6	3	6	1	2	1	0	1	2	3	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:23510095A>G	ENST00000296682.3	+	4	442	c.260A>G	c.(259-261)gAc>gGc	p.D87G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	87					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGGTGGATGACACAGAAGAT	0.418										HNSCC(3;0.000094)			7	37					0	0	0	0	G	23510095	A	G	23510095	3	3	93	1	0	0	0	0	1	0	0	0	12543	275	10	5	270	5	PRDM9	5	23510095	Missense_Mutation	SNP	A	TCGA-CN-6012-01A-11D-1683-08	4026666	23510095	157405165	34	18198											
CDH10	1008	broad.mit.edu	37	chr5	24537631	24537631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgttaatagcttgtgcGcgtagagtataaaaggcctt	10	14	10	7	2	1	1	0	0	1	1	1	1	1	1	1	1	2	4	1	1	6	8			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:24537631G>A	ENST00000264463.4	-	3	891	c.384C>T	c.(382-384)cgC>cgT	p.R128R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	128	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R128R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAGCTTGTGCGCGTAGAGTAT	0.413										HNSCC(23;0.051)			28	59					0	0	0	0	A	24537631	G	A	24537631	2	1	93	1	0	0	0	0	0	0	0	1	3125	1074	38	1		1	CDH10	5	24537631	Silent	SNP	G	TCGA-CN-6012-01A-11D-1683-08	1027536	24537631	156377629	35	18199											
MRPS30	10884	broad.mit.edu	37	chr5	44811123	44811123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatagattatagatgccCagttcatttttactgggtgc	9	17	9	6	0	1	3	1	1	0	2	1	3	1	3	1	1	3	1	1	1	4	8			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:44811123C>T	ENST00000507110.1	+	2	652	c.614C>T	c.(613-615)cCa>cTa	p.P205L		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	205					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TATAGATGCCCAGTTCATTTT	0.333													4	48					0	0	0	0	T	44811123	C	T	44811123	3	4	93	1	0	0	0	0	1	0	0	0	9910	594	21	4	620	4	MRPS30	5	44811123	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	20273492	44811123	136104137	36	18200											
CETN3	1070	broad.mit.edu	37	chr5	89695349	89695349	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttcatggggatctctttCcaatatccagtctgtcacta	8	16	6	11	0	5	0	2	0	3	0	8	1	7	1	2	2	0	0	2	2	3	5			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:89695349C>A	ENST00000283122.3	-	4	410	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	CETN3_ENST00000522565.1_Nonsense_Mutation_p.E96*|CETN3_ENST00000522083.1_Nonsense_Mutation_p.E96*|CETN3_ENST00000522864.1_Nonsense_Mutation_p.E96*	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	96	EF-hand 2.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		GGATCTCTTTCCAATATCCAG	0.318													11	30					0.0135373	0.0141081	1	0	A	89695349	C	A	89695349	4	1	93	1	0	0	0	0	0	1	0	0	3305	864	30	2	225	2	CETN3	5	89695349	Nonsense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	44884226	89695349	91219911	37	18201											
PRR16	51334	broad.mit.edu	37	chr5	120021745	120021745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgaatagtagctcaagtGgcacaacagcctccagccta	12	7	9	13	1	1	1	1	1	0	0	2	1	2	1	3	1	4	4	3	1	6	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:120021745G>T	ENST00000379551.2	+	3	544	c.187G>T	c.(187-189)Ggc>Tgc	p.G63C	PRR16_ENST00000505123.1_Missense_Mutation_p.G16C|PRR16_ENST00000407149.2_Missense_Mutation_p.G86C|PRR16_ENST00000446965.1_Missense_Mutation_p.G16C	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	86										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TAGCTCAAGTGGCACAACAGC	0.522													5	36					1.23904e-05	1.38293e-05	1	0	T	120021745	G	T	120021745	3	4	93	1	0	0	0	0	1	0	0	0	12669	1348	47	4	193	4	PRR16	5	120021745	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	30326396	120021745	60893515	38	18202											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307589	140307589	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaggatgaagacctcgattCtaatggtagggtcatttgtg	12	12	12	5	1	2	2	1	1	1	1	3	4	2	3	1	3	0	1	1	3	4	4			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:140307589C>G	ENST00000253807.2	+	1	1112	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S371C|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTCGATTCTAATGGTAGG	0.522													15	22					0	0	0	0	G	140307589	C	G	140307589	3	3	93	1	0	0	0	0	1	0	0	0	11603	913	32	2	1114	2	PCDHAC1	5	140307589	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	20285844	140307589	40607671	39	18203											
GRIA1	2890	broad.mit.edu	37	chr5	153026599	153026599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtctgcttcattacgcCgagctttcccgttgatacat	7	13	7	14	4	2	1	1	1	1	0	3	2	3	1	3	0	4	3	3	0	2	5			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:153026599C>T	ENST00000285900.5	+	3	675	c.332C>T	c.(331-333)cCg>cTg	p.P111L	GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000448073.4_Missense_Mutation_p.P121L|GRIA1_ENST00000518783.1_Missense_Mutation_p.P121L|GRIA1_ENST00000340592.5_Missense_Mutation_p.P111L|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Missense_Mutation_p.P42L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	111					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCATTACGCCGAGCTTTCCC	0.493													6	72					0	0	0	0	T	153026599	C	T	153026599	3	4	93	1	0	0	0	0	1	0	0	0	6817	652	23	1	342	1	GRIA1	5	153026599	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	12719010	153026599	27888661	40	18204											
CAGE1	285782	broad.mit.edu	37	chr6	7370283	7370283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgggagcagattagaatGtgtcgtttttgtatcctaca	10	14	10	7	2	0	2	0	0	0	2	3	3	2	3	2	1	2	3	2	1	4	5			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:7370283G>A	ENST00000502583.1	-	6	2326	c.1762C>T	c.(1762-1764)Cat>Tat	p.H588Y	CAGE1_ENST00000512086.1_Missense_Mutation_p.H588Y|CAGE1_ENST00000296742.7_Missense_Mutation_p.H452Y|CAGE1_ENST00000379918.4_Missense_Mutation_p.H588Y|CAGE1_ENST00000338150.4_Missense_Mutation_p.H588Y	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	588										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGATTAGAATGTGTCGTTTTT	0.383													5	25					0	0	0	0	A	7370283	G	A	7370283	3	1	93	1	0	0	0	0	1	0	0	0	2597	1377	48	4	899	4	CAGE1	6	7370283	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08		7370283	163744784	41	18205											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056533	26056533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagccttggtgatgagctCtgacaccgggggaccagacg	9	6	14	12	2	1	4	0	3	1	1	1	5	1	5	3	3	2	1	3	3	0	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:26056533C>G	ENST00000343677.2	-	1	166	c.124G>C	c.(124-126)Gag>Cag	p.E42Q		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	42	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GTGATGAGCTCTGACACCGGG	0.612													10	90					0	0	0	0	G	26056533	C	G	26056533	3	3	93	1	0	0	0	0	1	0	0	0	7174	922	32	2	521	2	HIST1H1C	6	26056533	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	18686250	26056533	145058534	42	18206											
OR5V1	81696	broad.mit.edu	37	chr6	29323824	29323824	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcaggtgtggatcagtcAcagtcgtcaagataattaat	13	12	10	6	1	3	1	3	0	0	1	4	2	3	2	0	2	1	1	0	2	4	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:29323824A>G	ENST00000377154.1	-	4	448	c.149T>C	c.(148-150)gTg>gCg	p.V50A	OR5V1_ENST00000543825.1_Missense_Mutation_p.V50A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGGATCAGTCACAGTCGTCAA	0.388													20	125					0	0	0	0	G	29323824	A	G	29323824	3	3	93	1	0	0	0	0	1	0	0	0	11255	159	6	5	819	5	OR5V1	6	29323824	Missense_Mutation	SNP	A	TCGA-CN-6012-01A-11D-1683-08	3267291	29323824	141791243	43	18207											
NOTCH4	4855	broad.mit.edu	37	chr6	32171962	32171962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcattggccagagagtGgcaggctgcagtgcctgtgg	8	7	18	8	0	0	1	0	0	0	1	0	3	0	1	2	5	2	4	2	5	1	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:32171962G>T	ENST00000375023.3	-	19	3208	c.3070C>A	c.(3070-3072)Cac>Aac	p.H1024N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1024	EGF-like 26.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCAGAGAGTGGCAGGCTGCA	0.627													4	25					0.00024832	0.000268496	1	0	T	32171962	G	T	32171962	3	4	93	1	0	0	0	0	1	0	0	0	10621	1348	47	4	2989	4	NOTCH4	6	32171962	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	2848138	32171962	138943105	44	18208											
TRERF1	55809	broad.mit.edu	37	chr6	42231078	42231078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcacaggcatctcgtcgtCcgacatcgagctggctggct	7	8	13	13	4	1	0	0	0	1	0	5	3	2	0	1	3	2	5	1	3	0	0			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:42231078C>A	ENST00000541110.1	-	8	2432	c.1864G>T	c.(1864-1866)Gac>Tac	p.D622Y	TRERF1_ENST00000372922.4_Missense_Mutation_p.D622Y|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000372917.4_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	622	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATCTCGTCGTCCGACATCGAG	0.667													8	79					0.000274275	0.000294718	1	0	A	42231078	C	A	42231078	3	1	93	1	0	0	0	0	1	0	0	0	16570	855	30	2	1782	2	TRERF1	6	42231078	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	10059116	42231078	128883989	45	18209											
CNR1	1268	broad.mit.edu	37	chr6	88854382	88854382	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgaggaacaggctgccCacggaggcagtgaaggaggc	10	4	18	9	1	0	2	0	2	0	0	0	5	0	5	1	6	2	3	1	6	2	0			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:88854382C>T	ENST00000537554.1	-	2	4174	c.612G>A	c.(610-612)gtG>gtA	p.V204V	CNR1_ENST00000369499.2_Silent_p.V204V|CNR1_ENST00000549890.1_Silent_p.V204V|CNR1_ENST00000549716.1_Silent_p.V143V|CNR1_ENST00000535130.1_Silent_p.V204V|CNR1_ENST00000428600.2_Silent_p.V204V|CNR1_ENST00000468898.1_Silent_p.V171V|CNR1_ENST00000369501.2_Silent_p.V204V|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	204					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACAGGCTGCCCACGGAGGCAG	0.557													3	30					0	0	0	0	T	88854382	C	T	88854382	2	4	93	1	0	0	0	0	0	0	0	1	3661	581	21	4		4	CNR1	6	88854382	Silent	SNP	C	TCGA-CN-6012-01A-11D-1683-08	46623304	88854382	82260685	46	18210											
GPNMB	10457	broad.mit.edu	37	chr7	23286502	23286502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtctctactatttcctggGatttctgctcctggctgcaa	6	16	8	11	0	2	0	0	0	2	0	5	1	4	1	2	2	3	3	2	2	3	4			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:23286502G>A	ENST00000258733.4	+	1	321	c.26G>A	c.(25-27)gGa>gAa	p.G9E	GPNMB_ENST00000453162.2_Missense_Mutation_p.G9E|GPNMB_ENST00000381990.2_Missense_Mutation_p.G9E|GPNMB_ENST00000409458.3_Missense_Mutation_p.G9E|GPNMB_ENST00000539136.1_Missense_Mutation_p.G9E			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	9					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TATTTCCTGGGATTTCTGCTC	0.478													28	51					0	0	0	0	A	23286502	G	A	23286502	3	1	93	1	0	0	0	0	1	0	0	0	6669	1174	41	2	28	2	GPNMB	7	23286502	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08		23286502	135852161	47	18211											
HOXA7	3204	broad.mit.edu	37	chr7	27194647	27194647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcggcggcagtcggaccttCgtccttatgctctttcttcc	3	14	10	14	4	2	0	0	0	2	0	6	1	4	1	3	3	2	2	3	3	1	4			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:27194647C>T	ENST00000242159.3	-	2	707	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	HOXA-AS3_ENST00000518947.2_RNA|HOXA7_ENST00000523796.2_5'UTR	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	192					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GTCGGACCTTCGTCCTTATGC	0.637													11	120					0	0	0	0	T	27194647	C	T	27194647	3	4	93	1	0	0	0	0	1	0	0	0	7347	893	31	1	122	1	HOXA7	7	27194647	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	3908145	27194647	131944016	48	18212											
SRRT	51593	broad.mit.edu	37	chr7	100473251	100473274	+	In_Frame_Del	DEL	GACAAGTTCAGAAGAGAGCGCAGC	GACAAGTTCAGAAGAGAGCGCAGC	-																															agtacgatcgaaggcgcaggGacaagttcagaagagagcgc																										TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:100473251_100473274delGACAAGTTCAGAAGAGAGCGCAGC	ENST00000388793.4	+	2	260_283	c.40_63delGACAAGTTCAGAAGAGAGCGCAGC	c.(40-63)del	p.DKFRRERS14del	SRRT_ENST00000347433.4_In_Frame_Del_p.DKFRRERS14del|SRRT_ENST00000432932.1_In_Frame_Del_p.DKFRRERS14del|SRRT_ENST00000457580.2_In_Frame_Del_p.DKFRRERS14del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	14	Arg-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGGCGCAGGGACAAGTTCAGAAGAGAGCGCAGCGACTACGACC	0.58													32	93	---	---	---	---					-	100473274	GACAAGTTCAGAAGAGAGCGCAGC	-	100473251	7	5	93	1	0	1	0	1	0	0	0	0	15262	1174	41	0	42	0	SRRT	7	100473251	In_Frame_Del	DEL	GACAAGTTCAGAAGAGAGCGCAGC	TCGA-CN-6012-01A-11D-1683-08	73278604	100473251	58665412	49	18213											
RNF148	378925	broad.mit.edu	37	chr7	122341901	122341901	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttcttaagttttcaggaTgtcacacttgcacatgggac	10	14	9	8	0	3	0	2	0	1	0	3	3	3	2	0	2	1	2	0	2	1	5			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:122341901T>C	ENST00000434824.1	-	1	1120	c.904A>G	c.(904-906)Atc>Gtc	p.I302V	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_3'UTR	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	302						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GTTTTCAGGATGTCACACTTG	0.358													7	106					0	0	0	0	C	122341901	T	C	122341901	3	2	93	1	0	0	0	0	1	0	0	0	13534	1464	51	5	17	5	RNF148	7	122341901	Missense_Mutation	SNP	T	TCGA-CN-6012-01A-11D-1683-08	21868650	122341901	36796762	50	18214											
FLNC	2318	broad.mit.edu	37	chr7	128489488	128489488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatgcacggtgtccacgccGgatggggcagagctcgatgt	8	7	15	11	4	0	1	0	0	0	1	2	3	1	2	2	4	2	3	2	4	0	0	rs57797061	by1000genomes	TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:128489488G>A	ENST00000325888.8	+	30	5316	c.5055G>A	c.(5053-5055)ccG>ccA	p.P1685P	FLNC_ENST00000346177.6_Silent_p.P1685P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1685					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						TGTCCACGCCGGATGGGGCAG	0.607													3	53					0	0	0	0	A	128489488	G	A	128489488	2	1	93	1	0	0	0	0	0	0	0	1	5980	1103	39	1		1	FLNC	7	128489488	Silent	SNP	G	TCGA-CN-6012-01A-11D-1683-08	6147587	128489488	30649175	51	18215											
COPS5	10987	broad.mit.edu	37	chr8	67958147	67958147	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctgggcttctgactgctCtaacttttcagacaaatcaa	11	12	7	11	0	4	2	2	1	2	1	4	2	4	2	0	1	3	3	0	1	3	4			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr8:67958147C>G	ENST00000357849.4	-	7	1140	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	COPS5_ENST00000517736.1_3'UTR|PPP1R42_ENST00000517834.1_Intron	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	274					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TCTGACTGCTCTAACTTTTCA	0.438													6	89					0	0	0	0	G	67958147	C	G	67958147	3	3	93	1	0	0	0	0	1	0	0	0	3766	922	32	2	192	2	COPS5	8	67958147	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08		67958147	78405875	52	18216											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744677	70744677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagggactgggggccaacgGgttcgggccttgcttcaact	7	8	16	10	2	1	1	1	0	0	1	2	2	1	2	2	5	3	2	2	5	2	3	rs146746403		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr8:70744677G>C	ENST00000260126.3	-	2	938	c.232C>G	c.(232-234)Ccg>Gcg	p.P78A	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P78A|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P78A	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	78						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGGGCCAACGGGTTCGGGCCT	0.647											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	43					0	0	0	0	C	70744677	G	C	70744677	3	2	93	1	0	0	0	0	1	0	0	0	14819	1232	43	4	2350	4	SLCO5A1	8	70744677	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	2786530	70744677	75619345	53	18217											
CTHRC1	115908	broad.mit.edu	37	chr8	104394752	104394752	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatctgggttggtacttgttCagattacccaaaaggagatg	11	13	11	6	0	2	2	1	0	1	2	2	3	2	2	1	3	2	3	1	3	5	6			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr8:104394752C>G	ENST00000330295.5	+	4	798	c.656C>G	c.(655-657)tCa>tGa	p.S219*	CTHRC1_ENST00000520880.1_Nonsense_Mutation_p.S89*|CTHRC1_ENST00000520337.1_Nonsense_Mutation_p.S205*	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	219						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GGTACTTGTTCAGATTACCCA	0.373													13	158					0	0	0	0	G	104394752	C	G	104394752	4	3	93	1	0	0	0	0	0	1	0	0	4042	838	29	2	670	2	CTHRC1	8	104394752	Nonsense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	33650075	104394752	41969270	54	18218											
RECQL4	9401	broad.mit.edu	37	chr8	145740836	145740836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagcatctgtgtcttcctCacttgctggggcaggcagga	8	10	12	11	0	3	0	1	0	2	0	4	1	4	1	1	4	3	4	1	4	1	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr8:145740836C>T	ENST00000428558.2	-	7	1305	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	422					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTGTCTTCCTCACTTGCTGGG	0.612			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				7	85					0	0	0	0	T	145740836	C	T	145740836	3	4	93	1	0	0	0	0	1	0	0	0	13284	835	29	2	2423	2	RECQL4	8	145740836	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	41346084	145740836	623186	55	18219											
CDKN2A	1029	broad.mit.edu	37	chr9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgtgtccaggaagccctCccgggcagcgtcgtgcacgg	6	5	15	15	5	0	0	0	0	0	0	3	1	2	1	3	3	4	2	3	3	1	0	rs121913384		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr9:21971096C>A	ENST00000304494.5	-	2	532	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	11					8.12818e-05	8.95653e-05	1	0	A	21971096	C	A	21971096	4	1	93	1	0	0	0	0	0	1	0	0	3190	864	30	2	216	2	CDKN2A	9	21971096	Nonsense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08		21971096	119242335	56	18220											
PRUNE2	158471	broad.mit.edu	37	chr9	79324742	79324742	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcttgttgggtgcaaattCcaggtattttttaaagcttc	8	17	9	7	0	0	0	0	0	0	0	2	0	1	0	1	2	3	5	1	2	4	8			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr9:79324742C>T	ENST00000428286.1	-	8	2571	c.1371G>A	c.(1369-1371)tgG>tgA	p.W457*	PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.W816*			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	816					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTGCAAATTCCAGGTATTTT	0.468													8	29					0	0	0	0	T	79324742	C	T	79324742	4	4	93	1	0	0	0	0	0	1	0	0	12720	856	30	2	6866	2	PRUNE2	9	79324742	Nonsense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	57353646	79324742	61888689	57	18221											
PTCH1	5727	broad.mit.edu	37	chr9	98239831	98239831	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatggctcctttagtacctGagttgttgcagcgttaaagg	10	13	11	7	1	0	1	0	1	0	0	1	1	1	1	2	2	3	6	2	2	5	6			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr9:98239831G>C	ENST00000430669.2	-	10	1888	c.1303C>G	c.(1303-1305)Cag>Gag	p.Q435E	PTCH1_ENST00000421141.1_Missense_Mutation_p.Q350E|PTCH1_ENST00000429896.2_Missense_Mutation_p.Q350E|PTCH1_ENST00000375274.2_Missense_Mutation_p.Q500E|PTCH1_ENST00000418258.1_Missense_Mutation_p.Q350E|PTCH1_ENST00000437951.1_Missense_Mutation_p.Q435E|PTCH1_ENST00000331920.6_Missense_Mutation_p.Q501E			Q13635	PTC1_HUMAN	patched 1	501					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TTTAGTACCTGAGTTGTTGCA	0.582													6	35					0	0	0	0	C	98239831	G	C	98239831	3	2	93	1	0	0	0	0	1	0	0	0	12809	1299	45	2	2898	2	PTCH1	9	98239831	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	18915089	98239831	42973600	58	18222											
DIP2C	22982	broad.mit.edu	37	chr10	445090	445090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgggcacggggaccacctCggccagcaggcagccgtaga	9	3	16	13	3	0	1	0	0	0	1	1	3	0	2	4	5	2	4	4	5	1	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:445090C>T	ENST00000280886.6	-	10	1306	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	DIP2C_ENST00000381496.3_Missense_Mutation_p.E300K	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	407						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGACCACCTCGGCCAGCAGG	0.617													5	33					0	0	0	0	T	445090	C	T	445090	3	4	93	1	0	0	0	0	1	0	0	0	4566	893	31	1	3563	1	DIP2C	10	445090	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08		445090	135089657	59	18223											
ITGA8	8516	broad.mit.edu	37	chr10	15649678	15649678	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttctggaatacttactcGaaggtaaacgatgaaatcct	13	13	7	8	2	2	1	0	1	2	0	4	4	3	2	1	2	3	1	1	2	7	4			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:15649678G>A	ENST00000378076.3	-	17	2115	c.1762C>T	c.(1762-1764)Cga>Tga	p.R588*		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	588					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.R588*(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATACTTACTCGAAGGTAAACG	0.448													24	222					0	0	0	0	A	15649678	G	A	15649678	4	1	93	1	0	0	0	0	0	1	0	0	7935	1066	37	1	1485	1	ITGA8	10	15649678	Nonsense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	15204588	15649678	119885069	60	18224											
CUBN	8029	broad.mit.edu	37	chr10	16882891	16882891	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctatttactcactgtccatGatggtgtatgtagcattaaa	11	16	7	7	0	2	1	1	1	1	0	3	1	3	1	1	1	2	3	1	1	6	6			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:16882891G>A	ENST00000377833.4	-	61	9884	c.9819C>T	c.(9817-9819)atC>atT	p.I3273I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3273	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CACTGTCCATGATGGTGTATG	0.343													8	41					0	0	0	0	A	16882891	G	A	16882891	2	1	93	1	0	0	0	0	0	0	0	1	4083	1280	45	2		2	CUBN	10	16882891	Silent	SNP	G	TCGA-CN-6012-01A-11D-1683-08	1233213	16882891	118651856	61	18225											
MRC1	4360	broad.mit.edu	37	chr10	17905662	17905662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaccatcgaggaagaggttCggttcacccactggaattca	11	8	12	10	2	2	1	2	0	0	1	4	5	2	4	2	5	0	2	2	5	2	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:17905662C>T	ENST00000331429.2	+	11	1856	c.1753C>T	c.(1753-1755)Cgg>Tgg	p.R585W																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGAAGAGGTTCGGTTCACCCA	0.448													34	59					0	0	0	0	T	17905662	C	T	17905662	3	4	93	1	0	0	0	0	1	0	0	0	9826	875	31	1	1795	1	MRC1	10	17905662	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	1022771	17905662	117629085	62	18226											
ZNF485	220992	broad.mit.edu	37	chr10	44112550	44112550	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcacagtggaaataaaccGtatcagtgtcgtgactgtgg	12	10	11	8	2	2	1	2	1	0	0	3	2	2	2	1	2	1	1	1	2	4	2	rs141606024	byFrequency	TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:44112550G>A	ENST00000361807.3	+	5	1253	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	ZNF485_ENST00000374435.3_Silent_p.P353P|ZNF485_ENST00000374437.2_Silent_p.P262P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GAAATAAACCGTATCAGTGTC	0.418													4	80					0	0	0	0	A	44112550	G	A	44112550	2	1	93	1	0	0	0	0	0	0	0	1	18033	1132	40	1		1	ZNF485	10	44112550	Silent	SNP	G	TCGA-CN-6012-01A-11D-1683-08	26206888	44112550	91422197	63	18227											
CXCL12	6387	broad.mit.edu	37	chr10	44876302	44876302	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaagaatcggcatgggcAtctgtagctcaggctgacgg	9	9	14	9	3	2	2	1	1	1	1	4	3	2	2	0	4	1	5	0	4	3	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:44876302A>G	ENST00000374429.2	-	2	174	c.88T>C	c.(88-90)Tgc>Cgc	p.C30R	CXCL12_ENST00000395795.4_Missense_Mutation_p.C30R|CXCL12_ENST00000343575.6_Missense_Mutation_p.C30R|CXCL12_ENST00000374426.2_Missense_Mutation_p.C30R|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000395793.3_Missense_Mutation_p.C30R|CXCL12_ENST00000395794.2_Missense_Mutation_p.C30R|AL137026.1_ENST00000593376.1_Intron	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	30					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CGGCATGGGCATCTGTAGCTC	0.493													18	136					0	0	0	0	G	44876302	A	G	44876302	3	3	93	1	0	0	0	0	1	0	0	0	4112	217	8	5	468	5	CXCL12	10	44876302	Missense_Mutation	SNP	A	TCGA-CN-6012-01A-11D-1683-08	763752	44876302	90658445	64	18228											
ERCC6	2074	broad.mit.edu	37	chr10	50732560	50732560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttattttgcactggggCtggaggcgtgactggggctg	4	14	17	6	1	0	1	0	1	0	0	0	2	0	2	0	6	1	4	0	6	1	5			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:50732560C>A	ENST00000355832.5	-	5	994	c.916G>T	c.(916-918)Gcc>Tcc	p.A306S	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.A306S|PGBD3_ENST00000603152.1_Missense_Mutation_p.A306S|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.A306S	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	306					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGCACTGGGGCTGGAGGCGTG	0.428								Direct reversal of damage;Nucleotide excision repair (NER)					66	110					5.00936e-31	6.32568e-31	1	0	A	50732560	C	A	50732560	3	1	93	1	0	0	0	0	1	0	0	0	5255	797	28	4	3633	4	ERCC6	10	50732560	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	5856258	50732560	84802187	65	18229											
PPRC1	23082	broad.mit.edu	37	chr10	103900410	103900410	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgtggagtcagagtcCttggacccaccaaagaccat	10	8	9	14	1	1	2	1	0	0	2	4	4	3	4	5	2	0	0	5	2	1	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:103900410C>T	ENST00000278070.2	+	5	2184	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S	PPRC1_ENST00000413464.2_Silent_p.S715S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGTCAGAGTCCTTGGACCCAC	0.532													8	61					0	0	0	0	T	103900410	C	T	103900410	2	4	93	1	0	0	0	0	0	0	0	1	12486	668	24	4		4	PPRC1	10	103900410	Silent	SNP	C	TCGA-CN-6012-01A-11D-1683-08	53167850	103900410	31634337	66	18230											
SORCS1	114815	broad.mit.edu	37	chr10	108923927	108923927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgactcgcgccctctccccGttctgccttctcctgatccg	2	11	7	21	5	3	1	0	1	3	0	7	2	4	1	7	0	1	1	7	0	0	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:108923927G>A	ENST00000263054.6	-	1	365	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	SORCS1_ENST00000344440.6_Missense_Mutation_p.R120W	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	120						integral to membrane	neuropeptide receptor activity|protein binding	p.R120W(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCCTCTCCCCGTTCTGCCTTC	0.701													5	28					0	0	0	0	A	108923927	G	A	108923927	3	1	93	1	0	0	0	0	1	0	0	0	15018	1144	40	1	3486	1	SORCS1	10	108923927	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	5023517	108923927	26610820	67	18231											
ANO3	63982	broad.mit.edu	37	chr11	26529794	26529794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctcagagcagaaggcttGatgttggagaaggaggtagg	13	7	16	5	0	1	4	1	1	0	3	1	6	1	5	1	5	2	4	1	5	4	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:26529794G>C	ENST00000256737.3	+	5	1428	c.576G>C	c.(574-576)ttG>ttC	p.L192F	ANO3_ENST00000531568.1_Missense_Mutation_p.L46F|ANO3_ENST00000525139.1_Missense_Mutation_p.L176F|ANO3_ENST00000531646.1_Missense_Mutation_p.L192F|ANO3_ENST00000537978.1_Missense_Mutation_p.L176F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	192						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAGAAGGCTTGATGTTGGAGA	0.299													19	20					0	0	0	0	C	26529794	G	C	26529794	3	2	93	1	0	0	0	0	1	0	0	0	697	1281	45	2	594	2	ANO3	11	26529794	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08		26529794	108476722	68	18232											
OR4C3	256144	broad.mit.edu	37	chr11	48346829	48346829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattgctgactcattgtatGaggggagaaccatctcttat	10	14	9	8	0	3	3	2	2	1	1	4	4	3	3	1	2	2	2	1	2	3	4			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:48346829G>A	ENST00000319856.4	+	1	358	c.337G>A	c.(337-339)Gag>Aag	p.E113K		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTCATTGTATGAGGGGAGAAC	0.443													10	204					0	0	0	0	A	48346829	G	A	48346829	3	1	93	1	0	0	0	0	1	0	0	0	11121	1291	45	2	339	2	OR4C3	11	48346829	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	21817035	48346829	86659687	69	18233											
OR5J2	282775	broad.mit.edu	37	chr11	55944828	55944828	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacctgtgcctctcacctGactgctgtgaccatattcta	7	13	6	15	0	2	2	1	2	2	0	4	2	3	2	5	0	2	1	5	0	2	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:55944828G>T	ENST00000312298.1	+	1	735	c.735G>T	c.(733-735)ctG>ctT	p.L245L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CCTCTCACCTGACTGCTGTGA	0.438													10	77					3.86212e-05	4.28299e-05	1	0	T	55944828	G	T	55944828	2	4	93	1	0	0	0	0	0	0	0	1	11236	1277	45	2		2	OR5J2	11	55944828	Silent	SNP	G	TCGA-CN-6012-01A-11D-1683-08	7597999	55944828	79061688	70	18234											
OR5T2	219464	broad.mit.edu	37	chr11	56000661	56000661	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtatatactgtacgacaTatattcagcagtgcataatt	13	15	6	7	1	1	0	1	0	0	0	1	1	1	0	0	0	4	4	0	0	7	10			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:56000661T>C	ENST00000313264.4	-	1	76	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CTGTACGACATATATTCAGCA	0.373													42	52					0	0	0	0	C	56000661	T	C	56000661	1	2	93	1	0	0	0	0	0	0	0	0	11253	1420	49	5		5	OR5T2	11	56000661	Translation_Start_Site	SNP	T	TCGA-CN-6012-01A-11D-1683-08	55833	56000661	79005855	71	18235											
PPFIA1	8500	broad.mit.edu	37	chr11	70172809	70172809	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagccaaatgaaagaacGcctggcttccctttccagtc	12	8	8	13	1	0	3	0	1	0	2	3	3	2	3	4	1	2	1	4	1	3	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:70172809G>C	ENST00000253925.7	+	7	1030	c.815G>C	c.(814-816)cGc>cCc	p.R272P	PPFIA1_ENST00000389547.3_Missense_Mutation_p.R272P|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	272					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ATGAAAGAACGCCTGGCTTCC	0.423													82	1180					0	0	0	0	C	70172809	G	C	70172809	3	2	93	1	0	0	0	0	1	0	0	0	12380	1087	38	3	837	3	PPFIA1	11	70172809	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	14172148	70172809	64833707	72	18236											
DDX10	1662	broad.mit.edu	37	chr11	108788633	108788633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcctttctggattggAgtgatgatgatgatgatgat	11	13	14	3	0	1	6	0	6	1	0	1	9	1	9	1	3	1	0	1	3	1	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:108788633A>G	ENST00000526794.1	+	17	2370	c.2338A>G	c.(2338-2340)Agt>Ggt	p.S780G	DDX10_ENST00000322536.3_Missense_Mutation_p.S780G			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	780							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TCTGGATTGGAGtgatgatga	0.363			T	NUP98	AML*								3	65					0	0	0	0	G	108788633	A	G	108788633	3	3	93	1	0	0	0	0	1	0	0	0	4374	304	11	5	2404	5	DDX10	11	108788633	Missense_Mutation	SNP	A	TCGA-CN-6012-01A-11D-1683-08	38615824	108788633	26217883	73	18237											
SLC6A13	6540	broad.mit.edu	37	chr12	333173	333173	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcacctctgtgagcatgatCagccccacaaggaaggagac	12	6	10	13	0	3	3	2	2	1	1	3	5	3	4	3	2	2	1	3	2	2	0			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:333173C>G	ENST00000343164.4	-	11	1348	c.1296G>C	c.(1294-1296)ctG>ctC	p.L432L	SLC6A13_ENST00000445055.2_Silent_p.L340L|SLC6A13_ENST00000539668.1_5'UTR	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	432					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TGAGCATGATCAGCCCCACAA	0.592													4	60					0	0	0	0	G	333173	C	G	333173	2	3	93	1	0	0	0	0	0	0	0	1	14764	813	29	2		2	SLC6A13	12	333173	Silent	SNP	C	TCGA-CN-6012-01A-11D-1683-08		333173	133518722	74	18238											
TAS2R14	50840	broad.mit.edu	37	chr12	11091182	11091182	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agtgtgctgcatcttcttgcGatgtttccacatggagaaga	9	13	11	8	1	2	2	0	0	2	2	3	4	3	2	1	1	3	3	1	1	1	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:11091182G>C	ENST00000537503.1	-	1	680	c.625C>G	c.(625-627)Cgc>Ggc	p.R209G	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	209					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						ATCTTCTTGCGATGTTTCCAC	0.433													12	59					0	0	0	0	C	11091182	G	C	11091182	3	2	93	1	0	0	0	0	1	0	0	0	15659	1058	37	3	331	3	TAS2R14	12	11091182	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	10758009	11091182	122760713	75	18239											
C12orf60	144608	broad.mit.edu	37	chr12	14976222	14976222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaagaagtattcaaaagtgCccatacgccagtcatcatct	15	10	6	10	1	4	1	3	0	1	1	4	1	4	1	2	0	2	1	2	0	7	4			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:14976222C>T	ENST00000330828.2	+	2	557	c.353C>T	c.(352-354)gCc>gTc	p.A118V	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	118										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						TTCAAAAGTGCCCATACGCCA	0.428													5	103					0	0	0	0	T	14976222	C	T	14976222	3	4	93	1	0	0	0	0	1	0	0	0	1715	739	26	4	355	4	C12orf60	12	14976222	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	3885040	14976222	118875673	76	18240											
KRT77	374454	broad.mit.edu	37	chr12	53086338	53086338	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggactgctgcagggcctcctCcaggtcctgcagcttctgcc	4	9	12	16	0	1	0	0	0	1	0	4	1	4	1	5	3	5	4	5	3	0	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:53086338C>G	ENST00000341809.3	-	7	1322	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	KRT77_ENST00000537195.1_Missense_Mutation_p.E199Q	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	432	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGGGCCTCCTCCAGGTCCTGC	0.622													9	38					0	0	0	0	G	53086338	C	G	53086338	3	3	93	1	0	0	0	0	1	0	0	0	8542	864	30	2	454	2	KRT77	12	53086338	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	38110116	53086338	80765557	77	18241											
SLC16A7	9194	broad.mit.edu	37	chr12	60169150	60169150	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagtgttagcagtgttctCtttgaaactctcatggacct	8	14	11	8	0	2	1	1	1	2	0	4	3	2	3	1	2	2	3	1	2	2	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:60169150C>G	ENST00000261187.4	+	4	1238	c.1074C>G	c.(1072-1074)ctC>ctG	p.L358L	SLC16A7_ENST00000552024.1_Silent_p.L358L|SLC16A7_ENST00000547379.1_Silent_p.L358L|SLC16A7_ENST00000552432.1_Silent_p.L358L|SLC16A7_ENST00000543448.1_Silent_p.L259L	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	358						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GCAGTGTTCTCTTTGAAACTC	0.502													18	123					0	0	0	0	G	60169150	C	G	60169150	2	3	93	1	0	0	0	0	0	0	0	1	14501	900	32	2		2	SLC16A7	12	60169150	Silent	SNP	C	TCGA-CN-6012-01A-11D-1683-08	7082812	60169150	73682745	78	18242											
RAB3IP	117177	broad.mit.edu	37	chr12	70206629	70206629	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggggactcaagcaactattAttatatttctcctttttgca	11	16	6	8	0	2	0	1	0	1	0	3	1	2	1	1	2	3	2	1	2	6	7			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:70206629A>C	ENST00000550536.1	+	9	1707	c.1250A>C	c.(1249-1251)tAt>tCt	p.Y417S	RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000325555.9_Missense_Mutation_p.Y195S|RAB3IP_ENST00000551641.1_Missense_Mutation_p.Y195S|RAB3IP_ENST00000550847.1_Missense_Mutation_p.Y108S|RAB3IP_ENST00000247833.7_Missense_Mutation_p.Y401S|RAB3IP_ENST00000553099.1_Missense_Mutation_p.Y195S|AC025263.3_ENST00000550437.1_Missense_Mutation_p.Y42S|RAB3IP_ENST00000483530.2_Intron	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	417					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCAACTATTATTATATTTCT	0.328													23	59					0	0	0	0	C	70206629	A	C	70206629	3	2	93	1	0	0	0	0	1	0	0	0	13020	449	16	5	1284	5	RAB3IP	12	70206629	Missense_Mutation	SNP	A	TCGA-CN-6012-01A-11D-1683-08	10037479	70206629	63645266	79	18243											
HSP90B1	7184	broad.mit.edu	37	chr12	104337038	104337038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaggagagtcgtgaagcaGttgagaaagaatttgagcct	14	9	13	5	1	0	5	0	3	0	3	1	7	0	5	1	1	2	2	1	1	4	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:104337038G>T	ENST00000299767.5	+	13	2013	c.1831G>T	c.(1831-1833)Gtt>Ttt	p.V611F		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	611					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TCGTGAAGCAGTTGAGAAAGA	0.418													15	33					8.60227e-14	1.02634e-13	1	0	T	104337038	G	T	104337038	3	4	93	1	0	0	0	0	1	0	0	0	7455	1029	36	4	1881	4	HSP90B1	12	104337038	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	34130409	104337038	29514857	80	18244											
RCBTB2	1102	broad.mit.edu	37	chr13	49076892	49076892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccacgtgacggcgggcGtggcaaagcaggcaaacacg	10	2	17	12	6	0	1	0	1	0	0	0	1	0	1	1	5	2	3	1	5	2	0			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr13:49076892G>A	ENST00000344532.3	-	11	1508	c.1085C>T	c.(1084-1086)aCg>aTg	p.T362M	RCBTB2_ENST00000430805.2_Missense_Mutation_p.T367M|RCBTB2_ENST00000544492.1_Missense_Mutation_p.T88M|RCBTB2_ENST00000544904.1_3'UTR	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	362							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GACGGCGGGCGTGGCAAAGCA	0.612													5	57					0	0	0	0	A	49076892	G	A	49076892	3	1	93	1	0	0	0	0	1	0	0	0	13254	1145	40	1	590	1	RCBTB2	13	49076892	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08		49076892	66092986	81	18245											
FARP1	10160	broad.mit.edu	37	chr13	99047720	99047720	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaacctcagcccccgcaGccaagcacaggtccagcatc	12	4	8	17	1	1	0	1	0	0	0	3	0	2	0	5	1	5	4	5	1	3	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr13:99047720G>A	ENST00000376586.2	+	13	1740	c.1404G>A	c.(1402-1404)caG>caA	p.Q468Q	FARP1_ENST00000595437.1_Silent_p.Q468Q|FARP1_ENST00000319562.6_Silent_p.Q468Q			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	468					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGCCCCCGCAGCCAAGCACAG	0.592													31	41					0	0	0	0	A	99047720	G	A	99047720	2	1	93	1	0	0	0	0	0	0	0	1	5721	962	34	4		4	FARP1	13	99047720	Silent	SNP	G	TCGA-CN-6012-01A-11D-1683-08	49970828	99047720	16122158	82	18246											
ATP11A	23250	broad.mit.edu	37	chr13	113481200	113481200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggacctcaatgaagagctgGgacaggttggtgtctcctga	9	9	14	9	1	2	3	1	2	1	1	3	5	2	5	2	4	1	2	2	4	2	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr13:113481200G>A	ENST00000487903.1	+	12	1304	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	ATP11A_ENST00000375645.3_Missense_Mutation_p.G406R|ATP11A_ENST00000375630.2_Missense_Mutation_p.G406R|ATP11A_ENST00000283558.8_Missense_Mutation_p.G406R			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	406					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G406>?(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGAAGAGCTGGGACAGGTTGG	0.547													5	13					0	0	0	0	A	113481200	G	A	113481200	3	1	93	1	0	0	0	0	1	0	0	0	1123	1233	43	4	1262	4	ATP11A	13	113481200	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	14433480	113481200	1688678	83	18247											
OR11G2	390439	broad.mit.edu	37	chr14	20665703	20665703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctttgtgctcttcaCtgttgtttacctcctgaccc	3	17	5	16	0	3	1	1	1	2	0	5	1	5	1	5	0	2	3	5	0	1	5			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:20665703C>A	ENST00000357366.3	+	1	209	c.209C>A	c.(208-210)aCt>aAt	p.T70N		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTGCTCTTCACTGTTGTTTAC	0.567													58	48					6.20943e-19	7.72829e-19	1	0	A	20665703	C	A	20665703	3	1	93	1	0	0	0	0	1	0	0	0	10996	565	20	4	211	4	OR11G2	14	20665703	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08		20665703	86683837	84	18248											
NYNRIN	57523	broad.mit.edu	37	chr14	24886290	24886290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtgggagatgagcagcGcaaacattgaagggctcaag	12	7	16	6	1	1	3	1	2	0	1	1	4	1	3	0	3	3	3	0	3	3	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:24886290G>A	ENST00000382554.3	+	9	5653	c.5335G>A	c.(5335-5337)Gca>Aca	p.A1779T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1779					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GATGAGCAGCGCAAACATTGA	0.617													4	137					0	0	0	0	A	24886290	G	A	24886290	3	1	93	1	0	0	0	0	1	0	0	0	10867	1087	38	1	5365	1	NYNRIN	14	24886290	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	4220587	24886290	82463250	85	18249											
SYNE2	23224	broad.mit.edu	37	chr14	64491050	64491050	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagcatgtgaagaagcatCtgcccaaagcacatgtgaag	15	7	11	8	0	1	4	0	3	1	1	1	4	1	4	1	0	4	3	1	0	5	0			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:64491050C>T	ENST00000358025.3	+	39	5943	c.5713C>T	c.(5713-5715)Ctg>Ttg	p.L1905L	SYNE2_ENST00000344113.4_Silent_p.L1905L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.L1905L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1905					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGAAGCATCTGCCCAAAGC	0.433													29	41					0	0	0	0	T	64491050	C	T	64491050	2	4	93	1	0	0	0	0	0	0	0	1	15537	912	32	2		2	SYNE2	14	64491050	Silent	SNP	C	TCGA-CN-6012-01A-11D-1683-08	39604760	64491050	42858490	86	18250											
PCNX	22990	broad.mit.edu	37	chr14	71543136	71543136	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttcccgaagagcaaaGgtagagtttatttcatttat	11	15	8	7	1	2	2	1	0	1	2	3	3	3	2	1	1	2	4	1	1	5	7			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:71543136G>T	ENST00000304743.2	+	28	5783	c.5337_splice	c.e28+1	p.K1779_splice	PCNX_ENST00000238570.5_Splice_Site_p.K1707_splice|PCNX_ENST00000439984.3_Splice_Site_p.K1668_splice	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1779						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GAAGAGCAAAGGTAGAGTTTA	0.403													8	23					0.000157383	0.000171241	1	0	T	71543136	G	T	71543136	5	4	93	1	0	0	0	0	0	0	1	0	11662	1014	35	4	5447	4	PCNX	14	71543136	Splice_Site	SNP	G	TCGA-CN-6012-01A-11D-1683-08	7052086	71543136	35806404	87	18251											
TMEM63C	57156	broad.mit.edu	37	chr14	77715746	77715746	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgccgtctcccaggccatCtttgcgccactcttgggtct	3	12	10	16	2	4	0	0	0	4	0	5	0	4	0	4	2	2	1	4	2	0	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:77715746C>G	ENST00000298351.4	+	21	2127	c.1983C>G	c.(1981-1983)atC>atG	p.I661M		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	661						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCCAGGCCATCTTTGCGCCAC	0.562													9	48					0	0	0	0	G	77715746	C	G	77715746	3	3	93	1	0	0	0	0	1	0	0	0	16286	903	32	2	2057	2	TMEM63C	14	77715746	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	6172610	77715746	29633794	88	18252											
EML1	2009	broad.mit.edu	37	chr14	100376629	100376629	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactttctctgaaaacggTgacaccattactggagattc	11	12	9	9	1	1	4	0	3	1	1	3	5	1	4	1	2	2	0	1	2	3	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:100376629T>G	ENST00000262233.6	+	12	1429	c.1290T>G	c.(1288-1290)ggT>ggG	p.G430G	EML1_ENST00000327921.9_Silent_p.G418G|EML1_ENST00000334192.4_Silent_p.G449G	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	430						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CTGAAAACGGTGACACCATTA	0.333													12	73					0	0	0	0	G	100376629	T	G	100376629	2	3	93	1	0	0	0	0	0	0	0	1	5134	1683	59	5		5	EML1	14	100376629	Silent	SNP	T	TCGA-CN-6012-01A-11D-1683-08	22660883	100376629	6972911	89	18253											
EIF2AK4	440275	broad.mit.edu	37	chr15	40313219	40313219	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcagaaatcatgtacgaCtggtcacaggtaatgggaca	15	7	11	8	1	2	1	2	0	0	1	2	3	2	2	0	3	2	3	0	3	3	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr15:40313219C>T	ENST00000263791.5	+	31	4336	c.4293C>T	c.(4291-4293)gaC>gaT	p.D1431D	EIF2AK4_ENST00000382727.2_Silent_p.D1403D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1431	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TCATGTACGACTGGTCACAGG	0.473													5	36					0	0	0	0	T	40313219	C	T	40313219	2	4	93	1	0	0	0	0	0	0	0	1	5035	564	20	4		4	EIF2AK4	15	40313219	Silent	SNP	C	TCGA-CN-6012-01A-11D-1683-08		40313219	62218173	90	18254											
CAPN3	825	broad.mit.edu	37	chr15	42703502	42703502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggagcttttcatgcatttGacaaggatggagatggtatc	11	12	12	6	0	1	2	1	1	0	1	2	5	1	4	0	4	2	3	0	4	2	4			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr15:42703502G>C	ENST00000397163.3	+	23	2617	c.2398G>C	c.(2398-2400)Gac>Cac	p.D800H	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000569136.1_Missense_Mutation_p.D135H|CAPN3_ENST00000561817.1_Missense_Mutation_p.D135H|CAPN3_ENST00000349748.3_Missense_Mutation_p.D708H|CAPN3_ENST00000337571.4_Missense_Mutation_p.D135H|CAPN3_ENST00000318023.7_Missense_Mutation_p.D794H|CAPN3_ENST00000397200.4_Missense_Mutation_p.D288H|CAPN3_ENST00000397204.4_Missense_Mutation_p.D135H|CAPN3_ENST00000357568.3_Missense_Mutation_p.D794H|CAPN3_ENST00000356316.3_Missense_Mutation_p.D707H	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	800	Domain IV.|EF-hand 4.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCATGCATTTGACAAGGATGG	0.498													16	61					0	0	0	0	C	42703502	G	C	42703502	3	2	93	1	0	0	0	0	1	0	0	0	2653	1290	45	2	2540	2	CAPN3	15	42703502	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	2390283	42703502	59827890	91	18255											
C15orf27	123591	broad.mit.edu	37	chr15	76452436	76452436	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttatcgtgtccattgcagTttccagcgcattccagtttg	6	15	8	12	2	0	0	0	0	0	0	4	0	3	0	4	0	2	4	4	0	1	5			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr15:76452436T>C	ENST00000388942.3	+	5	659	c.382_splice	c.e5-1	p.F128_splice		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	128						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCCATTGCAGTTTCCAGCGCA	0.557													27	123					0	0	0	0	C	76452436	T	C	76452436	5	2	93	1	0	0	0	0	0	0	1	0	1800	1739	60	5	397	5	C15orf27	15	76452436	Splice_Site	SNP	T	TCGA-CN-6012-01A-11D-1683-08	33748934	76452436	26078956	92	18256											
ABCC1	4363	broad.mit.edu	37	chr16	16232272	16232272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggccctgctgaggaagacGaagatccttgtgttggatga	9	9	15	8	2	0	4	0	2	0	2	1	7	1	6	2	3	1	2	2	3	2	2	rs36115566		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr16:16232272G>A	ENST00000399408.2	+	31	4549	c.4374G>A	c.(4372-4374)acG>acA	p.T1458T	ABCC1_ENST00000345148.5_Intron|ABCC1_ENST00000349029.5_Silent_p.T1333T|ABCC1_ENST00000351154.5_Silent_p.T1389T|ABCC1_ENST00000399410.3_Silent_p.T1448T|ABCC1_ENST00000346370.5_Silent_p.T1392T			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1448	ABC transporter 2.				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)	TGAGGAAGACGAAGATCCTTG	0.597													7	41					0	0	0	0	A	16232272	G	A	16232272	2	1	93	1	0	0	0	0	0	0	0	1	49	1045	37	1		1	ABCC1	16	16232272	Silent	SNP	G	TCGA-CN-6012-01A-11D-1683-08		16232272	74122481	93	18257											
CAPNS2	84290	broad.mit.edu	37	chr16	55601269	55601269	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgccggtatgctaatgaaGatggagatatggattttaac	12	12	11	6	2	0	3	0	1	0	2	1	5	1	4	2	3	2	2	2	3	5	5			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr16:55601269G>C	ENST00000457326.2	+	1	686	c.601G>C	c.(601-603)Gat>Cat	p.D201H	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	201	EF-hand 3.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TGCTAATGAAGATGGAGATAT	0.488													12	171					0	0	0	0	C	55601269	G	C	55601269	3	2	93	1	0	0	0	0	1	0	0	0	2659	942	33	2	603	2	CAPNS2	16	55601269	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	39368997	55601269	34753484	94	18258											
CNGB1	1258	broad.mit.edu	37	chr16	57954416	57954416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgatgatggcgctatttGtgctggccgtggaggccgca	5	11	16	9	4	0	2	0	2	0	0	0	3	0	3	2	4	1	4	2	4	1	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr16:57954416G>T	ENST00000564448.1	-	19	1718	c.1658C>A	c.(1657-1659)aCa>aAa	p.T553K	CNGB1_ENST00000251102.8_Missense_Mutation_p.T559K			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	559					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGCGCTATTTGTGCTGGCCGT	0.612													5	67					2.7689e-08	3.21489e-08	1	0	T	57954416	G	T	57954416	3	4	93	1	0	0	0	0	1	0	0	0	3630	1377	48	4	2139	4	CNGB1	16	57954416	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	2353147	57954416	32400337	95	18259											
AP1G1	164	broad.mit.edu	37	chr16	71779057	71779057	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgcctcacctgtaaggttGatgtctcccagcaaatcaag	11	10	8	12	0	3	1	2	1	1	0	4	1	3	1	3	1	2	3	3	1	3	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr16:71779057G>A	ENST00000299980.4	-	19	2430	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	AP1G1_ENST00000569748.1_Silent_p.I663I|AP1G1_ENST00000433195.2_Silent_p.I686I|AP1G1_ENST00000423132.2_Silent_p.I666I|AP1G1_ENST00000564155.1_Silent_p.I88I|AP1G1_ENST00000393512.3_Silent_p.I666I	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	663					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTGTAAGGTTGATGTCTCCCA	0.448													4	58					0	0	0	0	A	71779057	G	A	71779057	2	1	93	1	0	0	0	0	0	0	0	1	733	1280	45	2		2	AP1G1	16	71779057	Silent	SNP	G	TCGA-CN-6012-01A-11D-1683-08	13824641	71779057	18575696	96	18260											
TUSC5	286753	broad.mit.edu	37	chr17	1183425	1183425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacaagaccctgaatctgTccaagaccctctcggggcct	10	8	9	14	1	2	4	0	2	2	2	4	4	3	4	4	2	0	0	4	2	3	0			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:1183425T>C	ENST00000333813.3	+	1	469	c.130T>C	c.(130-132)Tcc>Ccc	p.S44P		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	44					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGAATCTGTCCAAGACCCT	0.617													27	65					0	0	0	0	C	1183425	T	C	1183425	3	2	93	1	0	0	0	0	1	0	0	0	16875	1667	58	5	132	5	TUSC5	17	1183425	Missense_Mutation	SNP	T	TCGA-CN-6012-01A-11D-1683-08		1183425	80011785	97	18261											
TP53	7157	broad.mit.edu	37	chr17	7578553	7578553	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgttgagggcaggggagTactgtaggaagaggaaggag	11	8	19	3	0	1	2	0	1	1	1	1	6	1	6	0	6	1	4	0	6	4	4			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:7578553T>G	ENST00000420246.2	-	5	509	c.375_splice	c.e5-1	p.Y126_splice	TP53_ENST00000359597.4_Splice_Site_p.Y126_splice|TP53_ENST00000413465.2_Splice_Site_p.Y126_splice|TP53_ENST00000455263.2_Splice_Site_p.Y126_splice|TP53_ENST00000269305.4_Splice_Site_p.Y126_splice|TP53_ENST00000445888.2_Splice_Site_p.Y126_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126_N131delYSPALN(3)|p.Y126fs*44(2)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAGGGGAGTACTGTAGGAA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	14					0	0	0	0	G	7578553	T	G	7578553	5	3	93	1	0	0	0	0	0	0	1	0	16476	1652	57	5	921	5	TP53	17	7578553	Splice_Site	SNP	T	TCGA-CN-6012-01A-11D-1683-08	6395128	7578553	73616657	98	18262											
MYO18A	399687	broad.mit.edu	37	chr17	27417044	27417044	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagctcccgtatcttagcttCctgcctgctcaccagggact	6	11	8	16	1	2	0	1	0	1	0	4	1	4	1	4	1	4	4	4	1	2	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:27417044C>G	ENST00000527372.1	-	37	5641	c.5461G>C	c.(5461-5463)Gaa>Caa	p.E1821Q	TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1784Q|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1821Q|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1821Q	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1821					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ATCTTAGCTTCCTGCCTGCTC	0.577													3	23					0	0	0	0	G	27417044	C	G	27417044	3	3	93	1	0	0	0	0	1	0	0	0	10135	864	30	2	727	2	MYO18A	17	27417044	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	19838491	27417044	53778166	99	18263											
GPR179	440435	broad.mit.edu	37	chr17	36483564	36483564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggaatctgctggggcaGtggtctcccatggacagacg	9	7	15	10	2	2	2	0	0	2	2	3	4	2	4	1	5	1	2	1	5	1	0			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:36483564G>A	ENST00000342292.4	-	11	5908	c.5888C>T	c.(5887-5889)aCt>aTt	p.T1963I	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1963						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W1960fs*10(1)|p.T1963N(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGCTGGGGCAGTGGTCTCCCA	0.547													15	32					0	0	0	0	A	36483564	G	A	36483564	3	1	93	1	0	0	0	0	1	0	0	0	6723	1029	36	4	1219	4	GPR179	17	36483564	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	9066520	36483564	44711646	100	18264											
CNTNAP1	8506	broad.mit.edu	37	chr17	40839831	40839831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgcccggtttcccacgcCgtggccgcctggcagtctca	5	8	12	16	4	1	0	1	0	1	0	3	0	2	0	5	3	1	2	5	3	1	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:40839831C>T	ENST00000264638.4	+	8	1355	c.1138C>T	c.(1138-1140)Cgt>Tgt	p.R380C	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	380					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTTCCCACGCCGTGGCCGCCT	0.637													4	65					0	0	0	0	T	40839831	C	T	40839831	3	4	93	1	0	0	0	0	1	0	0	0	3676	652	23	1	1168	1	CNTNAP1	17	40839831	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	4356267	40839831	40355379	101	18265											
NXPH3	11248	broad.mit.edu	37	chr17	47656507	47656507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaagatctgctcccgaGaccacgctcagagctcagcc	10	5	9	17	2	3	3	2	0	1	3	4	4	4	3	4	0	4	3	4	0	1	0			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:47656507G>T	ENST00000328741.5	+	2	966	c.604G>T	c.(604-606)Gac>Tac	p.D202Y	NXPH3_ENST00000513748.1_Missense_Mutation_p.D202Y	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	202	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CTGCTCCCGAGACCACGCTCA	0.602													20	73					8.28177e-16	1.00898e-15	1	0	T	47656507	G	T	47656507	3	4	93	1	0	0	0	0	1	0	0	0	10863	942	33	2	610	2	NXPH3	17	47656507	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	6816676	47656507	33538703	102	18266											
MPO	4353	broad.mit.edu	37	chr17	56349077	56349077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcgaggagtgggcccaCgcggcctttgcgcttcagag	6	6	17	12	4	1	1	1	0	0	1	1	3	1	2	2	4	1	2	2	4	0	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:56349077C>T	ENST00000340482.3	-	10	2241	c.2065G>A	c.(2065-2067)Gtg>Atg	p.V689M	MPO_ENST00000225275.3_Missense_Mutation_p.V657M			P05164	PERM_HUMAN	myeloperoxidase	657					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	AGTGGGCCCACGCGGCCTTTG	0.632													15	27					0	0	0	0	T	56349077	C	T	56349077	3	4	93	1	0	0	0	0	1	0	0	0	9802	536	19	1	276	1	MPO	17	56349077	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	8692570	56349077	24846133	103	18267											
TEX19	400629	broad.mit.edu	37	chr17	80320301	80320302	+	Frame_Shift_Ins	INS	-	-	G																															agcccaggacagcctgtgcaINSggggggctctgaggcatggg																										TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:80320301_80320302insG	ENST00000333437.4	+	2	585_586	c.275_276insG	c.(274-276)cggfs	p.R92fs		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	92						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGCCTGTGCAGGGGGGCTCTG	0.649													12	81	---	---	---	---					G	80320302	-	G	80320301	7	5	93	1	0	1	1	0	0	0	0	0	15874	188	7	0	277	0	TEX19	17	80320301	Frame_Shift_Ins	INS	-	TCGA-CN-6012-01A-11D-1683-08	23971224	80320301	874909	104	18268											
PPP4R1	9989	broad.mit.edu	37	chr18	9559423	9559424	+	Frame_Shift_Ins	INS	-	-	T																															ctgctttactcacctgcatgINStctgaggccagagtctcata																										TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr18:9559423_9559424insT	ENST00000400556.3	-	14	2094_2095	c.2021_2022insA	c.(2020-2022)gatfs	p.D674fs	PPP4R1_ENST00000400555.3_Frame_Shift_Ins_p.D657fs	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	674					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TCACCTGCATGTCTGAGGCCAG	0.46													146	160	---	---	---	---					T	9559424	-	T	9559423	7	5	93	1	0	1	1	0	0	0	0	0	12479	1368	48	0	858	0	PPP4R1	18	9559423	Frame_Shift_Ins	INS	-	TCGA-CN-6012-01A-11D-1683-08		9559423	68517825	105	18269											
TUBB6	84617	broad.mit.edu	37	chr18	12310986	12310986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggtggacttagagccaGgcaccatggacagcgtgcgg	8	6	15	12	2	0	1	0	0	0	1	0	3	0	3	3	5	3	1	3	5	1	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr18:12310986G>A	ENST00000317702.5	+	3	445	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	TUBB6_ENST00000591909.1_Missense_Mutation_p.G71S|TUBB6_ENST00000592683.1_Missense_Mutation_p.G71S|TUBB6_ENST00000590967.1_Missense_Mutation_p.G71S|TUBB6_ENST00000591208.1_Missense_Mutation_p.G71S|TUBB6_ENST00000586653.1_Missense_Mutation_p.G71S			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	71					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CTTAGAGCCAGGCACCATGGA	0.498													4	45					0	0	0	0	A	12310986	G	A	12310986	3	1	93	1	0	0	0	0	1	0	0	0	16856	1000	35	4	221	4	TUBB6	18	12310986	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	2751563	12310986	65766262	106	18270											
CELF4	56853	broad.mit.edu	37	chr18	34853090	34853090	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaggtagccgccctgcgCgactgatgccatcagggccg	6	7	14	14	4	2	1	2	1	0	0	2	2	2	1	4	2	3	2	4	2	1	2	rs150441111	by1000genomes	TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr18:34853090C>A	ENST00000420428.2	-	7	1233	c.838G>T	c.(838-840)Gcg>Tcg	p.A280S	CELF4_ENST00000601019.1_Missense_Mutation_p.A278S|CELF4_ENST00000588597.1_Missense_Mutation_p.A269S|CELF4_ENST00000603232.1_Missense_Mutation_p.A279S|CELF4_ENST00000334919.5_Missense_Mutation_p.A270S|CELF4_ENST00000591287.1_Missense_Mutation_p.A279S|CELF4_ENST00000361795.5_Missense_Mutation_p.A278S|CELF4_ENST00000412753.1_Missense_Mutation_p.A279S|CELF4_ENST00000591282.1_Missense_Mutation_p.A280S	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	280	Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCGCCCTGCGCGACTGATGCC	0.647													42	29					2.40228e-13	2.84653e-13	1	0	A	34853090	C	A	34853090	3	1	93	1	0	0	0	0	1	0	0	0	3247	768	27	3	646	3	CELF4	18	34853090	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	22542104	34853090	43224158	107	18271											
SH3GL1	6455	broad.mit.edu	37	chr19	4366921	4366921	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacgcagtttcttcctcAccttctccatctctttgaag	7	14	6	14	1	4	1	1	1	3	0	7	2	5	1	3	0	1	3	3	0	1	4			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:4366921A>G	ENST00000269886.3	-	2	293		c.e2+1		SH3GL1_ENST00000417295.2_Splice_Site|SH3GL1_ENST00000598564.1_Splice_Site	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1						central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TTTCTTCCTCACCTTCTCCAT	0.597			T	MLL	AL								32	229					0	0	0	0	G	4366921	A	G	4366921	5	3	93	1	0	0	0	0	0	0	1	0	14338	173	6	5	1026	5	SH3GL1	19	4366921	Splice_Site	SNP	A	TCGA-CN-6012-01A-11D-1683-08		4366921	54762062	108	18272											
KEAP1	9817	broad.mit.edu	37	chr19	10610402	10610402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccttgaagacagggctgGatgaggccagcaccaccttg	9	7	14	11	0	0	3	0	2	0	1	0	4	0	4	4	4	1	2	4	4	1	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:10610402G>T	ENST00000171111.5	-	2	855	c.308C>A	c.(307-309)tCc>tAc	p.S103Y	KEAP1_ENST00000393623.2_Missense_Mutation_p.S103Y	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	103	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GACAGGGCTGGATGAGGCCAG	0.627													13	27					0.0135373	0.0141081	1	0	T	10610402	G	T	10610402	3	4	93	1	0	0	0	0	1	0	0	0	8193	1174	41	2	1586	2	KEAP1	19	10610402	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	6243481	10610402	48518581	109	18273											
ELAVL3	1995	broad.mit.edu	37	chr19	11568882	11568882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagggggctcaccggaaaCgctgggtctgatggtgtagg	7	7	19	8	2	2	1	1	1	1	0	2	2	2	2	1	7	1	4	1	7	2	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:11568882C>T	ENST00000359227.3	-	5	1131	c.707G>A	c.(706-708)cGt>cAt	p.R236H	ELAVL3_ENST00000438662.2_Missense_Mutation_p.R236H	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	236					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCACCGGAAACGCTGGGTCTG	0.677													11	26					0	0	0	0	T	11568882	C	T	11568882	3	4	93	1	0	0	0	0	1	0	0	0	5089	536	19	1	408	1	ELAVL3	19	11568882	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	958480	11568882	47560101	110	18274											
IL27RA	9466	broad.mit.edu	37	chr19	14153306	14153306	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacccctgacccctgttgaGatccaagatttggagctagc	10	10	9	12	0	0	3	0	2	0	2	1	5	1	4	5	1	3	2	5	1	3	4			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:14153306G>C	ENST00000263379.2	+	5	701	c.576G>C	c.(574-576)gaG>gaC	p.E192D		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	192	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCCCTGTTGAGATCCAAGATT	0.567											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	130					0	0	0	0	C	14153306	G	C	14153306	3	2	93	1	0	0	0	0	1	0	0	0	7734	933	33	2	594	2	IL27RA	19	14153306	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	2584424	14153306	44975677	111	18275											
UBA52	7311	broad.mit.edu	37	chr19	18685943	18685945	+	In_Frame_Del	DEL	AAG	AAG	-																															acaccaacaacctgcgtcccAagaagaaggtcaaataaggt																										TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:18685943_18685945delAAG	ENST00000442744.2	+	5	428_430	c.370_372delAAG	c.(370-372)del	p.K126del	UBA52_ENST00000430157.2_In_Frame_Del_p.K126del|UBA52_ENST00000599551.1_In_Frame_Del_p.K126del|UBA52_ENST00000599595.1_In_Frame_Del_p.K126del|UBA52_ENST00000597451.1_In_Frame_Del_p.K126del|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000596304.1_In_Frame_Del_p.K126del|UBA52_ENST00000596273.1_In_Frame_Del_p.K126del|UBA52_ENST00000595158.1_In_Frame_Del_p.K126del|UBA52_ENST00000598780.1_In_Frame_Del_p.K126del|UBA52_ENST00000595683.1_In_Frame_Del_p.K126del	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	126					activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						CCTGCGTCCCAAGAAGAAGGTCA	0.567													9	58	---	---	---	---					-	18685945	AAG	-	18685943	7	5	93	1	0	1	0	1	0	0	0	0	16927	131	5	0	384	0	UBA52	19	18685943	In_Frame_Del	DEL	AAG	TCGA-CN-6012-01A-11D-1683-08	4532637	18685943	40443040	112	18276											
ZNF208	7757	broad.mit.edu	37	chr19	22156075	22156075	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagattggttaaaagctttGccacattcttcacatttgta	11	15	7	8	0	2	1	1	0	1	1	2	1	2	1	1	1	2	4	1	1	3	7			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:22156075G>T	ENST00000397126.4	-	4	1909	c.1761C>A	c.(1759-1761)ggC>ggA	p.G587G	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAAAGCTTTGCCACATTCTT	0.353													3	42					0.004672	0.00492839	1	0	T	22156075	G	T	22156075	2	4	93	1	0	0	0	0	0	0	0	1	17861	1306	46	4		4	ZNF208	19	22156075	Silent	SNP	G	TCGA-CN-6012-01A-11D-1683-08	3470132	22156075	36972908	113	18277											
ZFP14	57677	broad.mit.edu	37	chr19	36831737	36831737	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaccaaaatgaattttctGatgtactctaaggtctggac	12	13	7	9	0	4	2	1	2	3	0	4	3	4	3	1	2	1	1	1	2	5	4			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:36831737G>A	ENST00000270001.7	-	5	1106	c.991C>T	c.(991-993)Cag>Tag	p.Q331*		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TGAATTTTCTGATGTACTCTA	0.403													31	177					0	0	0	0	A	36831737	G	A	36831737	4	1	93	1	0	0	0	0	0	1	0	0	17734	1299	45	2	614	2	ZFP14	19	36831737	Nonsense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	14675662	36831737	22297246	114	18278											
ZNF790	388536	broad.mit.edu	37	chr19	37311007	37311007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttcttggtctgacacctcGactgcatgtctgaaaaataa	12	12	7	10	1	3	2	0	2	3	0	4	3	3	2	1	1	1	1	1	1	3	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:37311007G>A	ENST00000356725.4	-	5	359	c.239C>T	c.(238-240)tCg>tTg	p.S80L	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTGACACCTCGACTGCATGTC	0.323													22	125					0	0	0	0	A	37311007	G	A	37311007	3	1	93	1	0	0	0	0	1	0	0	0	18255	1059	37	1	1675	1	ZNF790	19	37311007	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	479270	37311007	21817976	115	18279											
ZNF570	148268	broad.mit.edu	37	chr19	37976077	37976077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaccttgctcatcaccagaGaattcacattggggagtcac	12	9	8	12	0	4	1	4	0	0	1	4	3	4	2	2	2	1	1	2	2	1	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:37976077G>A	ENST00000330173.1	+	5	2082	c.1553G>A	c.(1552-1554)aGa>aAa	p.R518K	ZNF570_ENST00000388801.3_Missense_Mutation_p.R315K|ZNF570_ENST00000586475.1_Missense_Mutation_p.R574K	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATCACCAGAGAATTCACATT	0.423													17	138					0	0	0	0	A	37976077	G	A	37976077	3	1	93	1	0	0	0	0	1	0	0	0	18097	942	33	2	1567	2	ZNF570	19	37976077	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	665070	37976077	21152906	116	18280											
FCGBP	8857	broad.mit.edu	37	chr19	40364231	40364231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccgggtagaagacctcgCccagtgggtagtagcggcca	8	5	16	12	3	0	2	0	0	0	2	1	2	0	2	4	4	1	3	4	4	4	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:40364231C>A	ENST00000221347.6	-	31	14418	c.14411G>T	c.(14410-14412)gGc>gTc	p.G4804V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4804						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAAGACCTCGCCCAGTGGGTA	0.657													31	118					2.47511e-08	2.8932e-08	1	0	A	40364231	C	A	40364231	3	1	93	1	0	0	0	0	1	0	0	0	5823	739	26	4	1830	4	FCGBP	19	40364231	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08	2388154	40364231	18764752	117	18281											
PSG7	5676	broad.mit.edu	37	chr19	43430101	43430101	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgccggtgggttagagtccGcaaagcaggacaagtagagg	11	6	17	7	2	0	2	0	0	0	2	1	3	1	3	2	4	2	4	2	4	4	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:43430101G>A	ENST00000406070.2	-	0	1163				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GTTAGAGTCCGCAAAGCAGGA	0.448													4	134					0	0	0	0	A	43430101	G	A	43430101	1	1	93	0	1	0	0	0	0	0	0	0	12739	1087	38	1		1	PSG7	19	43430101	RNA	SNP	G	TCGA-CN-6012-01A-11D-1683-08	3065870	43430101	15698882	118	18282											
ARHGAP35	2909	broad.mit.edu	37	chr19	47423337	47423337	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatttctaccagtggctgGaggaatctgtatacatggat	11	12	12	6	0	2	0	0	0	2	0	2	4	2	4	1	5	2	2	1	5	4	4			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:47423337G>T	ENST00000404338.3	+	1	1405	c.1405G>T	c.(1405-1407)Gag>Tag	p.E469*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	469	FF 3.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CCAGTGGCTGGAGGAATCTGT	0.378													13	5					0.00010058	0.000110129	1	0	T	47423337	G	T	47423337	4	4	93	1	0	0	0	0	0	1	0	0	6845	1175	41	2	1407	2	ARHGAP35	19	47423337	Nonsense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	3993236	47423337	11705646	119	18283											
ACPT	93650	broad.mit.edu	37	chr19	51298400	51298401	+	Frame_Shift_Del	DEL	GG	GG	-																															ccagggtgcctgcgggccttGgggggccccgtgtgagccag																										TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:51298400_51298401delGG	ENST00000270593.1	+	11	1266_1267	c.1266_1267delGG	c.(1264-1269)ttggfs	p.LG422fs	ACPT_ENST00000270594.3_Frame_Shift_Del_p.LG329fs	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	422						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGCGGGCCTTGGGGGGCCCCGT	0.649													2	4	---	---	---	---					-	51298401	GG	-	51298400	7	5	93	1	0	1	0	1	0	0	0	0	168	1339	47	0	1308	0	ACPT	19	51298400	Frame_Shift_Del	DEL	GG	TCGA-CN-6012-01A-11D-1683-08	3875063	51298400	7830583	120	18284											
ZNF671	79891	broad.mit.edu	37	chr19	58238851	58238851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggacgcaggcacttccGtccctgcagagcatcagacg	8	6	13	14	4	1	2	1	0	0	2	4	3	3	3	2	3	2	4	2	3	0	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:58238851G>A	ENST00000317398.6	-	1	141	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_De_novo_Start_InFrame|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000596939.1_Missense_Mutation_p.R16W	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGGCACTTCCGTCCCTGCAGA	0.672													10	17					0	0	0	0	A	58238851	G	A	58238851	3	1	93	1	0	0	0	0	1	0	0	0	18173	1144	40	1	1574	1	ZNF671	19	58238851	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	6940451	58238851	890132	121	18285											
NFS1	9054	broad.mit.edu	37	chr20	34285652	34285652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctcccagccataagcaTgtgtccgggagtgtgggttc	7	10	12	12	1	1	0	0	0	1	0	4	1	2	1	3	2	2	2	3	2	1	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr20:34285652T>C	ENST00000374092.4	-	3	348	c.278A>G	c.(277-279)cAt>cGt	p.H93R	NFS1_ENST00000306750.3_Missense_Mutation_p.H93R|NFS1_ENST00000541387.1_Missense_Mutation_p.H93R|NFS1_ENST00000540053.1_5'UTR|NFS1_ENST00000374085.1_Missense_Mutation_p.H33R|NFS1_ENST00000397425.1_Missense_Mutation_p.H33R	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	93					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GCCATAAGCATGTGTCCGGGA	0.527													8	43					0	0	0	0	C	34285652	T	C	34285652	3	2	93	1	0	0	0	0	1	0	0	0	10455	1464	51	5	1139	5	NFS1	20	34285652	Missense_Mutation	SNP	T	TCGA-CN-6012-01A-11D-1683-08		34285652	28739868	122	18286											
SLC2A10	81031	broad.mit.edu	37	chr20	45353864	45353864	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggctctcctcgcctccctGgttggtggcttcctcattga	2	13	12	14	1	2	1	1	1	1	0	6	1	4	1	4	5	0	3	4	5	0	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr20:45353864G>T	ENST00000359271.2	+	2	439	c.189G>T	c.(187-189)ctG>ctT	p.L63L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	63						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TCGCCTCCCTGGTTGGTGGCT	0.632													15	41					6.31663e-08	7.23693e-08	1	0	T	45353864	G	T	45353864	2	4	93	1	0	0	0	0	0	0	0	1	14627	1335	47	4		4	SLC2A10	20	45353864	Silent	SNP	G	TCGA-CN-6012-01A-11D-1683-08	11068212	45353864	17671656	123	18287											
ADAMTS5	11096	broad.mit.edu	37	chr21	28302210	28302210	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttctatcatattaccttttCttattaaaggttccaacaat	12	18	3	8	0	3	0	1	0	2	0	4	0	4	0	2	1	2	2	2	1	8	9			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr21:28302210C>G	ENST00000284987.5	-	7	2341	c.2220G>C	c.(2218-2220)aaG>aaC	p.K740N	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	740	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ATTACCTTTTCTTATTAAAGG	0.383													5	69					0	0	0	0	G	28302210	C	G	28302210	3	3	93	1	0	0	0	0	1	0	0	0	269	912	32	2	580	2	ADAMTS5	21	28302210	Missense_Mutation	SNP	C	TCGA-CN-6012-01A-11D-1683-08		28302210	19827685	124	18288											
MORC3	23515	broad.mit.edu	37	chr21	37741775	37741775	+	Frame_Shift_Del	DEL	A	A	-																															caagaactgagaaaccagctActccttgtcactgaggaaaa																										TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr21:37741775delA	ENST00000400485.1	+	15	2185	c.2109delA	c.(2107-2109)ctfs	p.L705fs	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	705					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GAAACCAGCTACTCCTTGTCA	0.388													35	34	---	---	---	---					-	37741775	A	-	37741775	7	5	93	1	0	1	0	1	0	0	0	0	9773	378	14	0	2167	0	MORC3	21	37741775	Frame_Shift_Del	DEL	A	TCGA-CN-6012-01A-11D-1683-08	9439565	37741775	10388120	125	18289											
NCF4	4689	broad.mit.edu	37	chr22	37271924	37271924	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggtccctctcccactccaAagcccccagtggctcccaga	7	7	8	19	0	1	1	0	0	1	1	5	1	4	1	6	2	1	1	6	2	1	0			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:37271924A>C	ENST00000397147.4	+	8	1041	c.857A>C	c.(856-858)aAa>aCa	p.K286T	NCF4_ENST00000248899.6_Intron	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	0					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TCCCACTCCAAAGCCCCCAGT	0.627													4	73					0	0	0	0	C	37271924	A	C	37271924	3	2	93	1	0	0	0	0	1	0	0	0	10288	14	1	5	887	5	NCF4	22	37271924	Missense_Mutation	SNP	A	TCGA-CN-6012-01A-11D-1683-08		37271924	14032642	126	18290											
LGALS1	3956	broad.mit.edu	37	chr22	38075659	38075659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaccgtcaagctgccagatgGatacgaattcaagttcccca	12	8	9	12	2	2	1	2	0	0	1	3	4	3	2	4	1	3	2	4	1	4	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:38075659G>T	ENST00000215909.5	+	4	406	c.311G>T	c.(310-312)gGa>gTa	p.G104V	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	104	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CTGCCAGATGGATACGAATTC	0.562													18	82					2.5808e-16	3.18913e-16	1	0	T	38075659	G	T	38075659	3	4	93	1	0	0	0	0	1	0	0	0	8791	1174	41	2	325	2	LGALS1	22	38075659	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	803735	38075659	13228907	127	18291											
ATXN10	25814	broad.mit.edu	37	chr22	46088932	46088932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttctgtttcgtgaactgcGagtggaacaggaatctctgt	8	14	11	8	2	3	1	0	1	3	0	5	4	3	3	0	2	3	1	0	2	3	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:46088932G>A	ENST00000252934.5	+	3	630	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	ATXN10_ENST00000381061.4_Missense_Mutation_p.R58Q|ATXN10_ENST00000498009.1_3'UTR	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	122					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CGTGAACTGCGAGTGGAACAG	0.338													9	61					0	0	0	0	A	46088932	G	A	46088932	3	1	93	1	0	0	0	0	1	0	0	0	1214	1058	37	1	375	1	ATXN10	22	46088932	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	8013273	46088932	5215634	128	18292											
PKDREJ	10343	broad.mit.edu	37	chr22	46653801	46653801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaaacttttcggcaggtaGacacattttttcactagatt	12	14	6	9	1	1	2	1	0	0	2	2	2	1	2	0	2	1	2	0	2	3	8			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:46653801G>A	ENST00000253255.5	-	1	5418	c.5419C>T	c.(5419-5421)Cta>Tta	p.L1807L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1807					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCGGCAGGTAGACACATTTTT	0.403													30	254					0	0	0	0	A	46653801	G	A	46653801	2	1	93	1	0	0	0	0	0	0	0	1	12042	933	33	2		2	PKDREJ	22	46653801	Silent	SNP	G	TCGA-CN-6012-01A-11D-1683-08	564869	46653801	4650765	129	18293											
CELSR1	9620	broad.mit.edu	37	chr22	46760506	46760506	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgactgccctgctcctcGcggtgcagctccacgctgac	4	8	12	17	4	0	2	0	2	0	0	3	2	2	2	3	2	4	4	3	2	0	0			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:46760506G>A	ENST00000262738.3	-	33	8681	c.8682C>T	c.(8680-8682)cgC>cgT	p.R2894R		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2894					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTGCTCCTCGCGGTGCAGCT	0.692													16	64					0	0	0	0	A	46760506	G	A	46760506	2	1	93	1	0	0	0	0	0	0	0	1	3250	1074	38	1		1	CELSR1	22	46760506	Silent	SNP	G	TCGA-CN-6012-01A-11D-1683-08	106705	46760506	4544060	130	18294											
BRD1	23774	broad.mit.edu	37	chr22	50216800	50216800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggtgcagcctggaggcGtgtggacatcacagtaagcg	8	7	16	10	3	1	0	1	0	0	0	2	2	2	2	2	4	3	2	2	4	1	1			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:50216800G>A	ENST00000216267.8	-	1	1652	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	BRD1_ENST00000457780.2_Missense_Mutation_p.T389M|BRD1_ENST00000404760.1_Missense_Mutation_p.T389M|BRD1_ENST00000542442.1_Missense_Mutation_p.T28M|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000404034.1_Missense_Mutation_p.T389M|BRD1_ENST00000342989.5_De_novo_Start_InFrame	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	389					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCTGGAGGCGTGTGGACATC	0.542													19	180					0	0	0	0	A	50216800	G	A	50216800	3	1	93	1	0	0	0	0	1	0	0	0	1509	1145	40	1	2058	1	BRD1	22	50216800	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	3456294	50216800	1087766	131	18295											
NLGN4X	57502	broad.mit.edu	37	chrX	6069195	6069195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacacagcagcaaactGagtagtatttcggatgccag	12	7	13	9	1	0	1	0	1	0	0	1	2	0	2	1	3	4	5	1	3	3	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chrX:6069195G>T	ENST00000381095.3	-	2	940	c.313C>A	c.(313-315)Cag>Aag	p.Q105K	NLGN4X_ENST00000275857.6_Missense_Mutation_p.Q105K|NLGN4X_ENST00000538097.1_Missense_Mutation_p.Q105K|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Missense_Mutation_p.Q105K|NLGN4X_ENST00000381093.2_Missense_Mutation_p.Q105K	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	105					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCAGCAAACTGAGTAGTATTT	0.557													11	31					2.80697e-09	3.30345e-09	1	0	T	6069195	G	T	6069195	3	4	93	1	0	0	0	0	1	0	0	0	10534	1299	45	2	2157	2	NLGN4X	23	6069195	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08		6069195	149201365	132	18296											
GRPR	2925	broad.mit.edu	37	chrX	16142365	16142365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taataacgtgtgctccagtgGatgccagcaggtacctggct	9	10	12	10	1	0	0	0	0	0	0	1	1	1	1	3	3	5	4	3	3	3	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chrX:16142365G>A	ENST00000380289.2	+	1	687	c.289G>A	c.(289-291)Gat>Aat	p.D97N		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	97					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TGCTCCAGTGGATGCCAGCAG	0.502											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	27					0	0	0	0	A	16142365	G	A	16142365	3	1	93	1	0	0	0	0	1	0	0	0	6858	1174	41	2	291	2	GRPR	23	16142365	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	10073170	16142365	139128195	133	18297											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104993010	104993010	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaatcttcctcctccttgTactgctggtggtcatttaca	7	15	7	12	0	2	0	1	0	1	0	5	0	5	0	3	2	4	3	3	2	3	5			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chrX:104993010T>C	ENST00000372582.1	+	9	1862	c.1106T>C	c.(1105-1107)gTa>gCa	p.V369A	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.V369A	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	369					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCTCCTTGTACTGCTGGTG	0.413													6	44					0	0	0	0	C	104993010	T	C	104993010	3	2	93	1	0	0	0	0	1	0	0	0	7715	1638	57	5	1136	5	IL1RAPL2	23	104993010	Missense_Mutation	SNP	T	TCGA-CN-6012-01A-11D-1683-08	88850645	104993010	50277550	134	18298											
GPR101	83550	broad.mit.edu	37	chrX	136113430	136113430	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacgggtaggagagagggTggatgatggacaagtagcga	12	6	20	3	2	0	2	0	1	0	1	0	8	0	6	0	6	1	2	0	6	3	2			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chrX:136113430T>C	ENST00000298110.1	-	1	403	c.404A>G	c.(403-405)cAc>cGc	p.H135R		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	135						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGAGAGAGGGTGGATGATGGA	0.592													7	12					0	0	0	0	C	136113430	T	C	136113430	3	2	93	1	0	0	0	0	1	0	0	0	6671	1696	59	5	1125	5	GPR101	23	136113430	Missense_Mutation	SNP	T	TCGA-CN-6012-01A-11D-1683-08	31120420	136113430	19157130	135	18299											
SLITRK2	84631	broad.mit.edu	37	chrX	144906200	144906200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggccacaccaagagagcctGagctgctgtatcaaaatatt	14	8	9	10	0	1	2	1	1	0	1	1	3	1	2	3	1	3	3	3	1	5	3			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chrX:144906200G>C	ENST00000370490.1	+	1	6512	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	SLITRK2_ENST00000413937.2_Missense_Mutation_p.E753Q|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E753Q|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E753Q|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E753Q			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	753						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGAGCCTGAGCTGCTGTA	0.488													13	98					0	0	0	0	C	144906200	G	C	144906200	3	2	93	1	0	0	0	0	1	0	0	0	14831	1291	45	2	2259	2	SLITRK2	23	144906200	Missense_Mutation	SNP	G	TCGA-CN-6012-01A-11D-1683-08	8792770	144906200	10364360	136	18300											
EIF3I	8668	broad.mit.edu	37	chr1	32696783	32696783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccacagtacttcgaatttGagtttgaggcttaagaagct	12	12	9	8	1	0	3	0	2	0	1	1	4	0	3	1	1	2	4	1	1	4	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:32696783G>A	ENST00000373586.1	+	11	1036	c.964G>A	c.(964-966)Gag>Aag	p.E322K		NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	322						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CTTCGAATTTGAGTTTGAGGC	0.527													8	35					0	0	0	0	A	32696783	G	A	32696783	3	1	94	1	0	0	0	0	1	0	0	0	5057	1291	45	2	1006	2	EIF3I	1	32696783	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08		32696783	216553838	1	18301											
MAST2	23139	broad.mit.edu	37	chr1	46476424	46476424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccgcacaaatggaagagcGactagcagagtttatttcct	13	9	9	10	2	0	2	0	0	0	2	1	4	1	3	2	1	2	3	2	1	4	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:46476424G>A	ENST00000361297.2	+	10	1284	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	MAST2_ENST00000372009.2_Intron|MAST2_ENST00000372008.1_Missense_Mutation_p.R219Q	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	334					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ATGGAAGAGCGACTAGCAGAG	0.502													7	33					0	0	0	0	A	46476424	G	A	46476424	3	1	94	1	0	0	0	0	1	0	0	0	9394	1058	37	1	1039	1	MAST2	1	46476424	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	13779641	46476424	202774197	2	18302											
ECHDC2	55268	broad.mit.edu	37	chr1	53370495	53370495	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagacaacggggcagcctCtgagtccctcctaccaggat	9	6	10	16	1	1	2	0	1	1	1	3	3	3	3	5	3	3	1	5	3	2	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:53370495C>T	ENST00000536120.1	-	10	1204	c.387G>A	c.(385-387)caG>caA	p.Q129Q	ECHDC2_ENST00000358358.5_Silent_p.Q144Q|ECHDC2_ENST00000371522.4_Silent_p.Q175Q			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	175					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						GGGGCAGCCTCTGAGTCCCTC	0.622													9	26					0	0	0	0	T	53370495	C	T	53370495	2	4	94	1	0	0	0	0	0	0	0	1	4930	912	32	2		2	ECHDC2	1	53370495	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	6894071	53370495	195880126	3	18303											
PGM1	5236	broad.mit.edu	37	chr1	64095639	64095639	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccagaagcaataactgatAaaattttccaaatcagcaag	18	9	5	9	0	1	2	1	1	0	1	3	2	3	2	2	0	3	2	2	0	7	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:64095639A>T	ENST00000371083.4	+	3	858	c.490A>T	c.(490-492)Aaa>Taa	p.K164*	PGM1_ENST00000540265.1_5'UTR|PGM1_ENST00000371084.3_Nonsense_Mutation_p.K146*	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	146					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AATAACTGATAAAATTTTCCA	0.418													17	53					0	0	0	0	T	64095639	A	T	64095639	4	4	94	1	0	0	0	0	0	1	0	0	11869	363	13	5	750	5	PGM1	1	64095639	Nonsense_Mutation	SNP	A	TCGA-CN-6013-01A-11D-1683-08	10725144	64095639	185154982	4	18304											
C1orf173	127254	broad.mit.edu	37	chr1	75078403	75078403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatgcttgtattcacaacagGagcttaacctgttcacctgc	10	12	8	11	0	2	0	2	0	0	0	2	2	2	1	2	1	5	4	2	1	3	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:75078403G>A	ENST00000326665.5	-	9	1309	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	C1orf173_ENST00000420661.2_Missense_Mutation_p.S167F|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	364										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						TTCACAACAGGAGCTTAACCT	0.443													8	33					0	0	0	0	A	75078403	G	A	75078403	3	1	94	1	0	0	0	0	1	0	0	0	2033	1174	41	2	3525	2	C1orf173	1	75078403	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	10982764	75078403	174172218	5	18305											
SAMD13	148418	broad.mit.edu	37	chr1	84768891	84768891	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccttattgattagttgctGaagtaaaggaaccctgcagc	11	12	9	9	0	0	2	0	2	0	0	1	3	1	3	2	1	4	4	2	1	6	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:84768891G>C	ENST00000370673.3	+	2	208	c.16G>C	c.(16-18)Gaa>Caa	p.E6Q	SAMD13_ENST00000370670.2_5'UTR|SAMD13_ENST00000370669.1_5'UTR|SAMD13_ENST00000370668.3_5'UTR|SAMD13_ENST00000370671.3_Missense_Mutation_p.E12Q|SAMD13_ENST00000394834.3_5'UTR	NM_001010971.2	NP_001010971.1	Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	12										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		ATTAGTTGCTGAAGTAAAGGA	0.388													12	34					0	0	0	0	C	84768891	G	C	84768891	3	2	94	1	0	0	0	0	1	0	0	0	13903	1291	45	2	22	2	SAMD13	1	84768891	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	9690488	84768891	164481730	6	18306											
HS2ST1	9653	broad.mit.edu	37	chr1	87538634	87538634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagggctattgcaagaCacgaagtccgagaaattgag	16	6	12	7	2	0	4	0	1	0	3	1	6	1	4	1	1	1	2	1	1	5	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:87538634C>T	ENST00000370550.5	+	2	505	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	HS2ST1_ENST00000356813.4_Missense_Mutation_p.H22Y|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.H22Y|HS2ST1_ENST00000370551.4_Missense_Mutation_p.H48Y	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	48						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TATTGCAAGACACGAAGTCCG	0.408													9	19					0	0	0	0	T	87538634	C	T	87538634	3	4	94	1	0	0	0	0	1	0	0	0	7412	478	17	4	148	4	HS2ST1	1	87538634	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	2769743	87538634	161711987	7	18307											
TRIM45	80263	broad.mit.edu	37	chr1	117661121	117661121	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatctgagccagggcttcctCcagggcctccacgtggggct	5	8	14	14	1	1	1	0	1	1	0	4	2	4	1	5	4	1	2	5	4	0	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:117661121C>G	ENST00000256649.4	-	2	1283	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	TRIM45_ENST00000369461.3_Missense_Mutation_p.E196Q|TRIM45_ENST00000369464.3_Missense_Mutation_p.E253Q	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	253						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		AGGGCTTCCTCCAGGGCCTCC	0.567													10	52					0	0	0	0	G	117661121	C	G	117661121	3	3	94	1	0	0	0	0	1	0	0	0	16615	864	30	2	1005	2	TRIM45	1	117661121	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	30122487	117661121	131589500	8	18308											
SEMA4A	64218	broad.mit.edu	37	chr1	156128225	156128225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggtttcttacaatgtcaCccatctctacacctgcggca	8	12	6	15	1	3	0	1	0	2	0	4	0	3	0	3	2	3	2	3	2	3	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:156128225C>T	ENST00000368285.3	+	5	677	c.410C>T	c.(409-411)aCc>aTc	p.T137I	SEMA4A_ENST00000355014.2_Missense_Mutation_p.T137I|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.T137I|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000368286.2_Intron	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	137	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TACAATGTCACCCATCTCTAC	0.532													32	130					0	0	0	0	T	156128225	C	T	156128225	3	4	94	1	0	0	0	0	1	0	0	0	14118	507	18	4	424	4	SEMA4A	1	156128225	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	38467104	156128225	93122396	9	18309											
OR10K2	391107	broad.mit.edu	37	chr1	158390345	158390345	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgagagcagccaaggaagagGaaggaaaacatttggatggc	16	5	15	5	0	0	2	0	1	0	2	0	7	0	6	1	5	3	1	1	5	5	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:158390345G>A	ENST00000314902.2	-	1	311	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CAAGGAAGAGGAAGGAAAACA	0.488													12	102					0	0	0	0	A	158390345	G	A	158390345	2	1	94	1	0	0	0	0	0	0	0	1	10985	1165	41	2		2	OR10K2	1	158390345	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	2262120	158390345	90860276	10	18310											
F5	2153	broad.mit.edu	37	chr1	169484729	169484729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtatggtttccattccactcCctgctcactgtagtggatgg	6	14	10	11	0	1	0	1	0	0	0	4	1	4	1	3	3	1	4	3	3	2	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:169484729C>T	ENST00000367796.3	-	24	6697	c.6496G>A	c.(6496-6498)Gga>Aga	p.G2166R	F5_ENST00000495481.1_5'UTR|F5_ENST00000367797.3_Missense_Mutation_p.G2161R			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2161	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CATTCCACTCCCTGCTCACTG	0.443													30	148					0	0	0	0	T	169484729	C	T	169484729	3	4	94	1	0	0	0	0	1	0	0	0	5386	632	22	4	201	4	F5	1	169484729	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	11094384	169484729	79765892	11	18311											
ANGPTL1	9068	broad.mit.edu	37	chr1	178834726	178834726	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggtgttgacacagattggCcctgttattctttgttcagg	6	17	11	7	0	2	2	1	1	1	1	2	2	2	2	1	3	0	3	1	3	1	7			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:178834726C>T	ENST00000234816.2	-	3	633	c.186G>A	c.(184-186)ggG>ggA	p.G62G	ANGPTL1_ENST00000367629.1_Silent_p.G62G|RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	62						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CACAGATTGGCCCTGTTATTC	0.443													3	47					0	0	0	0	T	178834726	C	T	178834726	2	4	94	1	0	0	0	0	0	0	0	1	613	726	26	4		4	ANGPTL1	1	178834726	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	9349997	178834726	70415895	12	18312											
HMCN1	83872	broad.mit.edu	37	chr1	185953402	185953402	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatacttgtgtggccagtaaCgttgctgggaccaataacaa	12	11	10	8	1	0	0	0	0	0	0	0	1	0	1	2	2	4	3	2	2	6	6			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:185953402C>T	ENST00000271588.4	+	19	3121	c.2892C>T	c.(2890-2892)aaC>aaT	p.N964N	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.N964N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	964	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGCCAGTAACGTTGCTGGGA	0.433													19	114					0	0	0	0	T	185953402	C	T	185953402	2	4	94	1	0	0	0	0	0	0	0	1	7270	535	19	1		1	HMCN1	1	185953402	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	7118676	185953402	63297219	13	18313											
ASPM	259266	broad.mit.edu	37	chr1	197060123	197060123	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaatctttttgatgctatGatatttctgaataaatctct	11	19	4	7	0	4	3	1	3	3	0	5	3	4	3	0	0	1	1	0	0	6	6			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:197060123G>C	ENST00000367409.4	-	23	9749	c.9493C>G	c.(9493-9495)Cat>Gat	p.H3165D	ASPM_ENST00000367408.1_Missense_Mutation_p.H830D|ASPM_ENST00000294732.7_Missense_Mutation_p.H1580D	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3165					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGATGCTATGATATTTCTGA	0.353													9	58					0	0	0	0	C	197060123	G	C	197060123	3	2	94	1	0	0	0	0	1	0	0	0	1060	1290	45	2	964	2	ASPM	1	197060123	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	11106721	197060123	52190498	14	18314											
NAV1	89796	broad.mit.edu	37	chr1	201789046	201789046	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcctggaccccaaccttCaggcaacactttaagggttc	10	9	7	15	0	1	0	1	0	0	0	3	1	2	1	5	3	2	2	5	3	3	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:201789046C>T	ENST00000367296.4	+	30	6040	c.5620C>T	c.(5620-5622)Cag>Tag	p.Q1874*	NAV1_ENST00000367295.1_Nonsense_Mutation_p.Q1480*|NAV1_ENST00000295624.6_Nonsense_Mutation_p.Q1871*|NAV1_ENST00000367300.3_Nonsense_Mutation_p.Q1814*|NAV1_ENST00000367302.1_Nonsense_Mutation_p.Q1827*|NAV1_ENST00000367297.4_Nonsense_Mutation_p.Q1866*|IPO9-AS1_ENST00000421449.1_RNA|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1874					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCCAACCTTCAGGCAACACT	0.522													6	60					0	0	0	0	T	201789046	C	T	201789046	4	4	94	1	0	0	0	0	0	1	0	0	10253	827	29	2	5795	2	NAV1	1	201789046	Nonsense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	4728923	201789046	47461575	15	18315											
USH2A	7399	broad.mit.edu	37	chr1	216373392	216373392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccttgttgaaccatgcaCattggtggtctcaatgtaat	10	14	8	9	0	1	1	1	1	1	0	3	1	2	1	2	2	2	3	2	2	3	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:216373392C>T	ENST00000366943.2	-	17	3774	c.3388G>A	c.(3388-3390)Gtg>Atg	p.V1130M	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.V1130M|USH2A_ENST00000307340.3_Missense_Mutation_p.V1130M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1130	Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAACCATGCACATTGGTGGTC	0.363										HNSCC(13;0.011)			19	72					0	0	0	0	T	216373392	C	T	216373392	3	4	94	1	0	0	0	0	1	0	0	0	17132	478	17	4	12458	4	USH2A	1	216373392	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	14584346	216373392	32877229	16	18316											
MIA3	375056	broad.mit.edu	37	chr1	222832101	222832101	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtatgaacggcaagaaagaGagcacaggctgtcagctgca	15	5	13	8	1	1	3	1	1	0	2	1	4	1	3	0	2	4	6	0	2	4	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:222832101G>C	ENST00000344922.5	+	19	4670	c.4645G>C	c.(4645-4647)Gag>Cag	p.E1549Q	MIA3_ENST00000344441.6_Missense_Mutation_p.E1549Q|MIA3_ENST00000340535.7_Missense_Mutation_p.E427Q|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1549					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCAAGAAAGAGAGCACAGGCT	0.423													3	186					0	0	0	0	C	222832101	G	C	222832101	3	2	94	1	0	0	0	0	1	0	0	0	9634	943	33	2	4719	2	MIA3	1	222832101	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	6458709	222832101	26418520	17	18317											
OR2M7	391196	broad.mit.edu	37	chr1	248487682	248487682	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatgagggacagttggctGaggaggaagtacatgggggt	10	8	18	5	0	0	2	0	2	0	0	1	5	1	5	1	6	1	3	1	6	2	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:248487682G>A	ENST00000317965.2	-	1	217	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGTTGGCTGAGGAGGAAGT	0.527													45	246					0	0	0	0	A	248487682	G	A	248487682	2	1	94	1	0	0	0	0	0	0	0	1	11085	1277	45	2		2	OR2M7	1	248487682	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	25655581	248487682	762939	18	18318											
WDR35	57539	broad.mit.edu	37	chr2	20145565	20145565	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcaggatccaagtttctGaaaacatacattcttgtctt	12	14	5	10	0	4	1	1	1	3	0	5	2	5	2	2	1	2	1	2	1	4	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:20145565G>A	ENST00000345530.3	-	17	1975	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	WDR35_ENST00000281405.4_Silent_p.F609F|WDR35_ENST00000416055.2_Silent_p.F185F	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	620										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGTTTCTGAAAACATACA	0.343													41	142					0	0	0	0	A	20145565	G	A	20145565	2	1	94	1	0	0	0	0	0	0	0	1	17385	1281	45	2		2	WDR35	2	20145565	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08		20145565	223053808	19	18319											
MATN3	4148	broad.mit.edu	37	chr2	20192895	20192895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgatgtatttgtccatattCatttattttcaacttctcca	10	19	3	9	1	3	0	2	0	1	0	5	1	4	0	2	0	1	1	2	0	4	9			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:20192895C>G	ENST00000407540.3	-	8	1500	c.1438G>C	c.(1438-1440)Gaa>Caa	p.E480Q	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.E438Q	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	480					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCATATTCATTTATTTTC	0.328													6	44					0	0	0	0	G	20192895	C	G	20192895	3	3	94	1	0	0	0	0	1	0	0	0	9404	835	29	2	26	2	MATN3	2	20192895	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	47330	20192895	223006478	20	18320											
SPTBN1	6711	broad.mit.edu	37	chr2	54856219	54856219	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttctgggagatggcagaaGaggaaggctggatacgggag	11	7	18	5	1	2	3	0	0	2	3	2	7	2	6	0	6	1	2	0	6	3	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:54856219G>C	ENST00000333896.5	+	13	2294	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q	SPTBN1_ENST00000356805.4_Missense_Mutation_p.E650Q	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	650					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GATGGCAGAAGAGGAAGGCTG	0.597													18	91					0	0	0	0	C	54856219	G	C	54856219	3	2	94	1	0	0	0	0	1	0	0	0	15209	943	33	2	2111	2	SPTBN1	2	54856219	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	34663324	54856219	188343154	21	18321											
EXOC6B	23233	broad.mit.edu	37	chr2	72945272	72945272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caattttgtctgaatgtttgCggatgctctccagaaagtct	9	15	9	8	1	3	2	0	1	3	1	4	3	3	3	1	1	2	2	1	1	3	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:72945272C>T	ENST00000272427.6	-	6	759	c.629G>A	c.(628-630)cGc>cAc	p.R210H	EXOC6B_ENST00000410104.1_Missense_Mutation_p.R210H	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	210					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TGAATGTTTGCGGATGCTCTC	0.423													4	66					0	0	0	0	T	72945272	C	T	72945272	3	4	94	1	0	0	0	0	1	0	0	0	5346	768	27	1	1874	1	EXOC6B	2	72945272	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	18089053	72945272	170254101	22	18322											
POTEF	728378	broad.mit.edu	37	chr2	130832651	130832651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaggacggggtgctcctcGggagccacacgcagctcgtt	7	6	15	13	4	0	0	0	0	0	0	3	2	1	2	2	4	4	5	2	4	0	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:130832651G>A	ENST00000357462.5	-	15	2487	c.2394C>T	c.(2392-2394)ccC>ccT	p.P798P	POTEF_ENST00000409914.2_Silent_p.P798P			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	798	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGTGCTCCTCGGGAGCCACAC	0.577													4	136					0	0	0	0	A	130832651	G	A	130832651	2	1	94	1	0	0	0	0	0	0	0	1	12337	1103	39	1		1	POTEF	2	130832651	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	57887379	130832651	112366722	23	18323											
HNMT	3176	broad.mit.edu	37	chr2	138738917	138738917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagttgccatttggagctGcccgtttagaaagcaaatct	10	12	10	9	1	1	2	0	1	1	1	1	3	1	3	2	1	4	4	2	1	3	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:138738917G>T	ENST00000329366.4	+	3	504	c.322G>T	c.(322-324)Gcc>Tcc	p.A108S	HNMT_ENST00000280097.3_Intron|HNMT_ENST00000485653.1_Intron|HNMT_ENST00000410115.1_Intron	NM_001024075.1	NP_001019246.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	0					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	ATTTGGAGCTGCCCGTTTAGA	0.448													16	81					3.41278e-10	3.69138e-10	1	0	T	138738917	G	T	138738917	3	4	94	1	0	0	0	0	1	0	0	0	7305	1319	46	4	355	4	HNMT	2	138738917	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	7906266	138738917	104460456	24	18324											
IFIH1	64135	broad.mit.edu	37	chr2	163133418	163133418	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttttcattttcatattCtgggttttcagccagccttt	6	19	6	10	0	4	0	3	0	1	0	4	0	4	0	2	1	3	2	2	1	1	9			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:163133418C>A	ENST00000263642.2	-	11	2478	c.2083G>T	c.(2083-2085)Gaa>Taa	p.E695*		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	695					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTTTCATATTCTGGGTTTTCA	0.328													24	68					3.5997e-14	3.9256e-14	1	0	A	163133418	C	A	163133418	4	1	94	1	0	0	0	0	0	1	0	0	7573	922	32	2	1018	2	IFIH1	2	163133418	Nonsense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	24394501	163133418	80065955	25	18325											
TTN	7273	broad.mit.edu	37	chr2	179444106	179444106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaggtagaccctttaagtCaagatcaggagccactgtaa	14	9	9	9	0	3	2	3	0	0	2	3	3	3	3	2	2	1	2	2	2	4	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:179444106C>T	ENST00000589042.1	-	320	67875	c.67651G>A	c.(67651-67653)Gac>Aac	p.D22551N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D20910N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13611N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13486N|TTN_ENST00000342992.6_Missense_Mutation_p.D19983N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13678N|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20910	Fibronectin type-III 63.						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)			CCCTTTAAGTCAAGATCAGGA	0.393													3	19					0	0	0	0	T	179444106	C	T	179444106	3	4	94	1	0	0	0	0	1	0	0	0	16831	826	29	2	40500	2	TTN	2	179444106	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	16310688	179444106	63755267	26	18326											
TTN	7273	broad.mit.edu	37	chr2	179501496	179501496	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaactttctcctttcggctTctattggtgaaggagtcttt	6	19	8	8	1	3	1	0	1	3	0	5	2	3	2	1	3	1	1	1	3	3	7			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:179501496T>G	ENST00000589042.1	-	225	41182	c.40958A>C	c.(40957-40959)gAa>gCa	p.E13653A	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12012A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4713A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4588A|TTN_ENST00000342992.6_Missense_Mutation_p.E11085A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4780A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12012	Ig-like 92.						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)			CCTTTCGGCTTCTATTGGTGA	0.448													16	31					0	0	0	0	G	179501496	T	G	179501496	3	3	94	1	0	0	0	0	1	0	0	0	16831	1783	62	5	67287	5	TTN	2	179501496	Missense_Mutation	SNP	T	TCGA-CN-6013-01A-11D-1683-08	57390	179501496	63697877	27	18327											
TTN	7273	broad.mit.edu	37	chr2	179516230	179516230	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaccaccagaggcaccttcTtttcaggaacaacctccttg	11	9	7	14	0	2	1	1	0	1	1	3	3	3	2	5	2	3	1	5	2	3	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:179516230T>G	ENST00000589042.1	-	207	39721	c.39497A>C	c.(39496-39498)aAg>aCg	p.K13166T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K11659T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K10732T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11519	Ig-like 87.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K10732T(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)			AGGCACCTTCTTTTCAGGAAC	0.473													12	41					0	0	0	0	G	179516230	T	G	179516230	3	3	94	1	0	0	0	0	1	0	0	0	16831	1609	56	5	68398	5	TTN	2	179516230	Missense_Mutation	SNP	T	TCGA-CN-6013-01A-11D-1683-08	14734	179516230	63683143	28	18328											
FSIP2	401024	broad.mit.edu	37	chr2	186670078	186670078	+	Missense_Mutation	SNP	G	G	A																															caattgataaagagacagttGataaaatatccaattttgta																										TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:186670078G>A	ENST00000343098.5	+	17	16312	c.16312G>A	c.(16312-16314)Gat>Aat	p.D5438N	FSIP2_ENST00000424728.1_Missense_Mutation_p.D5349N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAGACAGTTGATAAAATATC	0.289													12	59					0	0	0	0	A	186670078	G	A	186670078	3	1	94	1	0	0	0	0	1	0	0	0	6123	1290	45	2	16378	2	FSIP2	2	186670078	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	7153848	186670078	56529295	29	18329	150	2									
FSIP2	401024	broad.mit.edu	37	chr2	186670088	186670088	+	Missense_Mutation	SNP	C	C	T																															agagacagttgataaaatatCcaattttgtatatgaacagt																										TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:186670088C>T	ENST00000343098.5	+	17	16322	c.16322C>T	c.(16321-16323)tCc>tTc	p.S5441F	FSIP2_ENST00000424728.1_Missense_Mutation_p.S5352F	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GATAAAATATCCAATTTTGTA	0.299													15	57					0	0	0	0	T	186670088	C	T	186670088	3	4	94	1	0	0	0	0	1	0	0	0	6123	855	30	2	16388	2	FSIP2	2	186670088	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	10	186670088	56529285	30	18330	150	2									
BARD1	580	broad.mit.edu	37	chr2	215645669	215645669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaatggcaaagatttcttaGatgtaagataatttttgcag	14	15	8	4	0	1	3	0	0	1	3	1	3	1	3	0	1	1	3	0	1	5	7			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:215645669G>C	ENST00000260947.4	-	4	1063	c.929C>G	c.(928-930)tCt>tGt	p.S310C	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.S166C	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	310					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGATTTCTTAGATGTAAGATA	0.403									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				23	36					0	0	0	0	C	215645669	G	C	215645669	3	2	94	1	0	0	0	0	1	0	0	0	1316	942	33	2	1436	2	BARD1	2	215645669	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	28975581	215645669	27553704	31	18331											
FAM134A	79137	broad.mit.edu	37	chr2	220046144	220046144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagccactggcagagacaGagagtgaaagcgaggcagag	15	3	16	7	1	0	5	0	2	0	3	0	8	0	5	1	2	2	2	1	2	1	0			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:220046144G>A	ENST00000430297.2	+	7	974	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	280						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCAGAGACAGAGAGTGAAAG	0.532													14	24					0	0	0	0	A	220046144	G	A	220046144	3	1	94	1	0	0	0	0	1	0	0	0	5486	943	33	2	864	2	FAM134A	2	220046144	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	4400475	220046144	23153229	32	18332											
SGPP2	130367	broad.mit.edu	37	chr2	223423616	223423616	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtttctgggattaccctGagtctcaaacagttggaaac	11	11	10	9	0	2	1	1	1	2	0	3	3	2	3	1	3	3	2	1	3	3	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:223423616G>C	ENST00000321276.7	+	5	1285	c.1199G>C	c.(1198-1200)tGa>tCa	p.*400S		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	0					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		GGATTACCCTGAGTCTCAAAC	0.423													7	30					0	0	0	0	C	223423616	G	C	223423616	4	2	94	1	0	0	0	0	0	0	0	0	14307	1304	45	2	1217	2	SGPP2	2	223423616	Nonstop_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	3377472	223423616	19775757	33	18333											
COL6A3	1293	broad.mit.edu	37	chr2	238285728	238285728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctctgtgcatagtccagCgcgtagcccaggttgagggc	7	9	13	12	2	1	1	0	1	1	0	2	1	2	1	3	2	4	3	3	2	3	4	rs115874872	by1000genomes	TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:238285728C>T	ENST00000295550.4	-	7	3209	c.2757G>A	c.(2755-2757)gcG>gcA	p.A919A	COL6A3_ENST00000346358.4_Silent_p.A719A|COL6A3_ENST00000409809.1_Silent_p.A713A|COL6A3_ENST00000392003.2_Silent_p.A512A|COL6A3_ENST00000392004.3_Silent_p.A713A|COL6A3_ENST00000353578.4_Silent_p.A713A|COL6A3_ENST00000347401.3_Silent_p.A718A|COL6A3_ENST00000472056.1_Silent_p.A312A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	919	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATAGTCCAGCGCGTAGCCCA	0.527													10	31					0	0	0	0	T	238285728	C	T	238285728	2	4	94	1	0	0	0	0	0	0	0	1	3731	755	27	1		1	COL6A3	2	238285728	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	14862112	238285728	4913645	34	18334											
ANO7	50636	broad.mit.edu	37	chr2	242135211	242135211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacatgcacaggacctggcGggagacttttctggataatc	11	9	12	9	1	1	2	0	0	1	2	2	5	1	4	1	4	1	1	1	4	1	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:242135211G>A	ENST00000274979.8	+	4	525	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	ANO7_ENST00000402530.3_Missense_Mutation_p.R140Q|ANO7_ENST00000402430.3_Missense_Mutation_p.R140Q	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	141						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AGGACCTGGCGGGAGACTTTT	0.607													14	32					0	0	0	0	A	242135211	G	A	242135211	3	1	94	1	0	0	0	0	1	0	0	0	701	1116	39	1	436	1	ANO7	2	242135211	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	3849483	242135211	1064162	35	18335											
ZFYVE20	64145	broad.mit.edu	37	chr3	15115633	15115633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attccctgccactgcttcctCctcctcgtcctcttcctcga	3	14	4	20	2	1	0	0	0	1	0	9	1	7	0	7	0	2	1	7	0	0	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:15115633C>G	ENST00000253699.3	-	14	2624	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E671Q	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	671	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.|Poly-Glu.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						ACTGCTTCCTCCTCCTCGTCC	0.567													4	138					0	0	0	0	G	15115633	C	G	15115633	3	3	94	1	0	0	0	0	1	0	0	0	17761	864	30	2	347	2	ZFYVE20	3	15115633	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08		15115633	182906797	36	18336											
RAB5A	5868	broad.mit.edu	37	chr3	20017653	20017653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcaaataaaagagcagtaGatttccaggtatgttaaatt	17	12	8	4	0	0	2	0	0	0	2	1	2	1	2	1	1	2	5	1	1	8	7			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:20017653G>A	ENST00000273047.4	+	4	966	c.430G>A	c.(430-432)Gat>Aat	p.D144N	RAB5A_ENST00000422242.1_Missense_Mutation_p.D130N	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	144					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						AAGAGCAGTAGATTTCCAGGT	0.343													5	24					0	0	0	0	A	20017653	G	A	20017653	3	1	94	1	0	0	0	0	1	0	0	0	13030	942	33	2	440	2	RAB5A	3	20017653	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	4902020	20017653	178004777	37	18337											
KLHL18	23276	broad.mit.edu	37	chr3	47385244	47385244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgtccccatgcacacgcGcaggagccgggtctccctgg	6	7	13	15	3	1	0	0	0	1	0	3	2	2	1	4	3	2	2	4	3	0	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:47385244G>A	ENST00000232766.5	+	10	1558	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H	KLHL18_ENST00000455924.2_Missense_Mutation_p.R401H	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	513										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ATGCACACGCGCAGGAGCCGG	0.607													4	47					0	0	0	0	A	47385244	G	A	47385244	3	1	94	1	0	0	0	0	1	0	0	0	8425	1087	38	1	1576	1	KLHL18	3	47385244	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	27367591	47385244	150637186	38	18338											
ALCAM	214	broad.mit.edu	37	chr3	105269028	105269028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaaaattatcatttcccctGaagagaatgttacattaact	15	14	5	7	0	1	2	1	1	0	1	2	3	2	2	2	0	2	2	2	0	7	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:105269028G>A	ENST00000306107.5	+	12	1932	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	ALCAM_ENST00000486979.2_Missense_Mutation_p.E427K|ALCAM_ENST00000472644.2_Missense_Mutation_p.E478K|ALCAM_ENST00000389927.4_Missense_Mutation_p.E200K	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	478	Ig-like C2-type 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CATTTCCCCTGAAGAGAATGT	0.348													7	199					0	0	0	0	A	105269028	G	A	105269028	3	1	94	1	0	0	0	0	1	0	0	0	487	1291	45	2	1478	2	ALCAM	3	105269028	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	57883784	105269028	92753402	39	18339											
KIAA1524	57650	broad.mit.edu	37	chr3	108308177	108308177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacttcacggctttgtactGactgacagtcaggagcaagg	10	10	12	9	1	2	3	2	3	0	0	2	4	2	4	0	3	2	3	0	3	2	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:108308177G>C	ENST00000295746.8	-	1	122	c.46C>G	c.(46-48)Cag>Gag	p.Q16E	KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	16						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTTTGTACTGACTGACAGTC	0.627													3	49					0	0	0	0	C	108308177	G	C	108308177	3	2	94	1	0	0	0	0	1	0	0	0	8290	1299	45	2	2755	2	KIAA1524	3	108308177	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	3039149	108308177	89714253	40	18340											
POPDC2	64091	broad.mit.edu	37	chr3	119367224	119367224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagagaggtgggtgtggcctGaggaggggacacagctggct	8	6	21	6	0	0	2	0	1	0	1	0	6	0	4	1	7	1	2	1	7	0	0			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:119367224G>C	ENST00000493094.1	-	3	1351	c.892C>G	c.(892-894)Cag>Gag	p.Q298E	POPDC2_ENST00000468801.1_Missense_Mutation_p.Q298E|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000264231.3_Missense_Mutation_p.Q298E|POPDC2_ENST00000538678.1_Missense_Mutation_p.Q298E			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	298						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GGTGTGGCCTGAGGAGGGGAC	0.612													11	94					0	0	0	0	C	119367224	G	C	119367224	3	2	94	1	0	0	0	0	1	0	0	0	12327	1299	45	2	210	2	POPDC2	3	119367224	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	11059047	119367224	78655206	41	18341											
PLXND1	23129	broad.mit.edu	37	chr3	129290406	129290406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacacattctgcaccatgtgGaaacgctcaccagccactgt	11	8	8	14	1	2	0	1	0	1	0	2	2	2	1	3	1	3	2	3	1	1	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:129290406G>A	ENST00000393239.1	-	17	3460	c.3282C>T	c.(3280-3282)ttC>ttT	p.F1094F	PLXND1_ENST00000324093.4_Silent_p.F1094F			Q9Y4D7	PLXD1_HUMAN	plexin D1	1094	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCACCATGTGGAAACGCTCAC	0.662													17	82					0	0	0	0	A	129290406	G	A	129290406	2	1	94	1	0	0	0	0	0	0	0	1	12199	1165	41	2		2	PLXND1	3	129290406	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	9923182	129290406	68732024	42	18342											
TMCC1	23023	broad.mit.edu	37	chr3	129389275	129389275	+	Missense_Mutation	SNP	C	C	A																															ctagtctggcctgggtttccCggatctcctggatctcatgt																										TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:129389275C>A	ENST00000393238.3	-	4	1749	c.1409G>T	c.(1408-1410)cGg>cTg	p.R470L	TMCC1_ENST00000432054.2_Missense_Mutation_p.R146L|TMCC1_ENST00000329333.5_Missense_Mutation_p.R291L|TMCC1_ENST00000426664.2_Missense_Mutation_p.R356L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	470						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGGGTTTCCCGGATCTCCTG	0.488													29	140					3.73988e-18	4.12945e-18	1	0	A	129389275	C	A	129389275	3	1	94	1	0	0	0	0	1	0	0	0	16086	652	23	3	564	3	TMCC1	3	129389275	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	98869	129389275	68633155	43	18343	151	2									
TMCC1	23023	broad.mit.edu	37	chr3	129389276	129389276	+	Missense_Mutation	SNP	G	G	A																															tagtctggcctgggtttcccGgatctcctggatctcatgta																										TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:129389276G>A	ENST00000393238.3	-	4	1748	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	TMCC1_ENST00000432054.2_Missense_Mutation_p.R146W|TMCC1_ENST00000329333.5_Missense_Mutation_p.R291W|TMCC1_ENST00000426664.2_Missense_Mutation_p.R356W	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	470						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGGTTTCCCGGATCTCCTGG	0.493													30	140					0	0	0	0	A	129389276	G	A	129389276	3	1	94	1	0	0	0	0	1	0	0	0	16086	1115	39	1	565	1	TMCC1	3	129389276	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	1	129389276	68633154	44	18344	151	2									
CPNE4	131034	broad.mit.edu	37	chr3	131300471	131300471	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagttcttgtaattcttcttCttggctttgtacttgggatt	5	21	9	6	0	4	0	0	0	4	0	4	2	4	1	0	2	1	4	0	2	2	11			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:131300471C>T	ENST00000512055.1	-	13	2945	c.819G>A	c.(817-819)aaG>aaA	p.K273K	CPNE4_ENST00000502818.1_Silent_p.K291K|CPNE4_ENST00000512332.1_Silent_p.K291K|CPNE4_ENST00000429747.1_Silent_p.K273K|CPNE4_ENST00000511604.1_Silent_p.K273K			Q96A23	CPNE4_HUMAN	copine IV	273										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AATTCTTCTTCTTGGCTTTGT	0.448													11	81					0	0	0	0	T	131300471	C	T	131300471	2	4	94	1	0	0	0	0	0	0	0	1	3844	912	32	2		2	CPNE4	3	131300471	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	1911195	131300471	66721959	45	18345											
CLSTN2	64084	broad.mit.edu	37	chr3	140284985	140284985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagctccagcagtggctctGacgacagcgaagaggaggag	11	5	16	9	2	1	3	0	2	1	1	2	7	2	5	1	3	3	3	1	3	1	0			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:140284985G>A	ENST00000458420.3	+	17	2948	c.2758G>A	c.(2758-2760)Gac>Aac	p.D920N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	920	Glu-rich (highly acidic).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAGTGGCTCTGACGACAGCGA	0.572										HNSCC(16;0.037)			22	13					0	0	0	0	A	140284985	G	A	140284985	3	1	94	1	0	0	0	0	1	0	0	0	3592	1290	45	2	2824	2	CLSTN2	3	140284985	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	8984514	140284985	57737445	46	18346											
PLSCR4	57088	broad.mit.edu	37	chr3	145917778	145917778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatgtaaaccatctggtctGagttgtttttaatatcatat	12	17	6	6	0	3	1	1	1	2	0	3	1	3	1	1	1	1	3	1	1	6	7			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:145917778G>A	ENST00000354952.2	-	6	686	c.446C>T	c.(445-447)tCa>tTa	p.S149L	PLSCR4_ENST00000493382.1_Missense_Mutation_p.S149L|PLSCR4_ENST00000446574.2_Missense_Mutation_p.S149L|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000383083.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	149				S -> L (in Ref. 6; AAP97186).	blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CATCTGGTCTGAGTTGTTTTT	0.358													11	50					0	0	0	0	A	145917778	G	A	145917778	3	1	94	1	0	0	0	0	1	0	0	0	12184	1294	45	2	559	2	PLSCR4	3	145917778	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	5632793	145917778	52104652	47	18347											
IGSF10	285313	broad.mit.edu	37	chr3	151167020	151167020	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggacactgctgagcactaGagggacttctatcttttttg	8	14	11	8	0	2	2	0	1	2	1	2	4	2	4	0	2	2	2	0	2	2	6			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:151167020G>C	ENST00000282466.3	-	4	748	c.749C>G	c.(748-750)tCt>tGt	p.S250C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	250	LRRCT.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGAGCACTAGAGGGACTTCT	0.408													15	109					0	0	0	0	C	151167020	G	C	151167020	3	2	94	1	0	0	0	0	1	0	0	0	7650	942	33	2	7182	2	IGSF10	3	151167020	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	5249242	151167020	46855410	48	18348											
GOLIM4	27333	broad.mit.edu	37	chr3	167742328	167742328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactacctcctcttctgcctCttcctggtactgttcatcaa	6	16	4	15	0	5	0	2	0	3	0	7	0	7	0	4	1	4	2	4	1	4	6			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:167742328C>T	ENST00000470487.1	-	14	2535	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E588K	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	616	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTTCTGCCTCTTCCTGGTAC	0.443													4	89					0	0	0	0	T	167742328	C	T	167742328	3	4	94	1	0	0	0	0	1	0	0	0	6614	922	32	2	256	2	GOLIM4	3	167742328	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	16575308	167742328	30280102	49	18349											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	80					0	0	0	0	A	178936082	G	A	178936082	3	1	94	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	11193754	178936082	19086348	50	18350											
CHRD	8646	broad.mit.edu	37	chr3	184104641	184104641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctctgcagagacgaacGgtgatctgtgacccggtggt	7	10	13	11	3	2	3	0	2	2	1	4	5	3	3	2	3	2	1	2	3	1	0			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:184104641G>A	ENST00000204604.1	+	17	2451	c.2205G>A	c.(2203-2205)acG>acA	p.T735T	CHRD_ENST00000348986.3_Silent_p.T695T|CHRD_ENST00000450923.1_Silent_p.T735T|CHRD_ENST00000545352.1_Silent_p.T277T|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	735	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAGACGAACGGTGATCTGTG	0.657													12	55					0	0	0	0	A	184104641	G	A	184104641	2	1	94	1	0	0	0	0	0	0	0	1	3401	1103	39	1		1	CHRD	3	184104641	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	5168559	184104641	13917789	51	18351											
ACAP2	23527	broad.mit.edu	37	chr3	195028031	195028031	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaaagcctgaggtcttCaactaccacagtcggattat	11	11	9	10	1	2	1	1	1	1	0	3	2	2	2	2	2	4	1	2	2	4	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:195028031C>A	ENST00000326793.6	-	12	1161	c.931G>T	c.(931-933)Gaa>Taa	p.E311*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	311	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CTGAGGTCTTCAACTACCACA	0.368													4	165					0.00909568	0.0095271	1	0	A	195028031	C	A	195028031	4	1	94	1	0	0	0	0	0	1	0	0	119	835	29	2	1453	2	ACAP2	3	195028031	Nonsense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	10923390	195028031	2994399	52	18352											
IQCG	84223	broad.mit.edu	37	chr3	197659136	197659136	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtggccgaatcttgcaactCcttaatggtatctgcaatca	11	12	8	10	1	3	0	1	0	2	0	4	1	4	0	2	2	3	3	2	2	5	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:197659136C>G	ENST00000265239.6	-	6	977	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	IQCG_ENST00000455191.1_Missense_Mutation_p.E185Q|IQCG_ENST00000453254.1_Missense_Mutation_p.E185Q	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	185										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TCTTGCAACTCCTTAATGGTA	0.413													16	121					0	0	0	0	G	197659136	C	G	197659136	3	3	94	1	0	0	0	0	1	0	0	0	7863	864	30	2	806	2	IQCG	3	197659136	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	2631105	197659136	363294	53	18353											
KIAA1109	84162	broad.mit.edu	37	chr4	123252691	123252691	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacatgatgatataagtttGagaaggtaagaaattgattg	17	12	11	1	0	0	5	0	4	0	2	0	7	0	5	0	1	1	2	0	1	6	6			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr4:123252691G>C	ENST00000264501.4	+	67	11833	c.11460G>C	c.(11458-11460)ttG>ttC	p.L3820F	KIAA1109_ENST00000388738.3_Missense_Mutation_p.L3820F			Q2LD37	K1109_HUMAN	KIAA1109	3820					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATATAAGTTTGAGAAGGTAAG	0.313													4	26					0	0	0	0	C	123252691	G	C	123252691	3	2	94	1	0	0	0	0	1	0	0	0	8259	1281	45	2	11718	2	KIAA1109	4	123252691	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08		123252691	67901585	54	18354											
NEK1	4750	broad.mit.edu	37	chr4	170400665	170400665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtggagaaacatcagaactCttaactcctttagccaccaa	14	9	7	11	0	2	2	1	0	1	2	3	3	3	2	3	2	4	0	3	2	5	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr4:170400665C>G	ENST00000439128.2	-	22	2584	c.1944G>C	c.(1942-1944)aaG>aaC	p.K648N	NEK1_ENST00000507142.1_Missense_Mutation_p.K676N|NEK1_ENST00000512193.1_Missense_Mutation_p.K579N|NEK1_ENST00000510533.1_Missense_Mutation_p.K604N|NEK1_ENST00000511633.1_Missense_Mutation_p.K632N	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	648					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CATCAGAACTCTTAACTCCTT	0.348													8	42					0	0	0	0	G	170400665	C	G	170400665	3	3	94	1	0	0	0	0	1	0	0	0	10391	912	32	2	1884	2	NEK1	4	170400665	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	47147974	170400665	20753611	55	18355											
CLCN3	1182	broad.mit.edu	37	chr4	170628303	170628303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacaatatgacagtggatGatatagaaaacatgattaat	19	10	9	3	0	0	4	0	3	0	1	0	6	0	6	0	2	1	0	0	2	7	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr4:170628303G>A	ENST00000513761.1	+	11	2594	c.2035G>A	c.(2035-2037)Gat>Aat	p.D679N	CLCN3_ENST00000360642.3_Missense_Mutation_p.D652N|CLCN3_ENST00000504131.2_Missense_Mutation_p.D662N|CLCN3_ENST00000347613.4_Missense_Mutation_p.D679N	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	679	CBS 1.				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GACAGTGGATGATATAGAAAA	0.423													27	92					0	0	0	0	A	170628303	G	A	170628303	3	1	94	1	0	0	0	0	1	0	0	0	3494	1290	45	2	2073	2	CLCN3	4	170628303	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	227638	170628303	20525973	56	18356											
RPL37	6167	broad.mit.edu	37	chr5	40834692	40834692	+	Nonsense_Mutation	SNP	G	G	T																															tattgcgacgctttccaaacGatgacgttcccttcgtctgc																										TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:40834692G>T	ENST00000274242.5	-	2	169	c.20C>A	c.(19-21)tCg>tAg	p.S7*	RPL37_ENST00000509877.1_Nonsense_Mutation_p.S7*|RPL37_ENST00000508493.1_Nonsense_Mutation_p.S7*|RPL37_ENST00000504562.1_5'UTR	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	7					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome			lung(3)|ovary(1)	4		Breast(839;0.238)				CTTTCCAAACGATGACGTTCC	0.478													19	23					1.33834e-09	1.43587e-09	1	0	T	40834692	G	T	40834692	4	4	94	1	0	0	0	0	0	1	0	0	13674	1059	37	3	285	3	RPL37	5	40834692	Nonsense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08		40834692	140080568	57	18357	152	2									
RPL37	6167	broad.mit.edu	37	chr5	40834693	40834693	+	Missense_Mutation	SNP	A	A	T																															attgcgacgctttccaaacgAtgacgttcccttcgtctgca																										TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:40834693A>T	ENST00000274242.5	-	2	168	c.19T>A	c.(19-21)Tcg>Acg	p.S7T	RPL37_ENST00000509877.1_Missense_Mutation_p.S7T|RPL37_ENST00000508493.1_Missense_Mutation_p.S7T|RPL37_ENST00000504562.1_5'UTR	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	7					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome			lung(3)|ovary(1)	4		Breast(839;0.238)				TTTCCAAACGATGACGTTCCC	0.478													19	24					0	0	0	0	T	40834693	A	T	40834693	3	4	94	1	0	0	0	0	1	0	0	0	13674	333	12	5	286	5	RPL37	5	40834693	Missense_Mutation	SNP	A	TCGA-CN-6013-01A-11D-1683-08	1	40834693	140080567	58	18358	152	2									
VCAN	1462	broad.mit.edu	37	chr5	82833070	82833070	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacataaatgggaagcatctCgttaccactgtgcccaagga	13	9	9	10	1	1	0	0	0	1	0	2	2	1	2	2	2	4	2	2	2	6	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:82833070C>T	ENST00000265077.3	+	8	4813	c.4248C>T	c.(4246-4248)ctC>ctT	p.L1416L	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.L429L|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1416	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGAAGCATCTCGTTACCACTG	0.468													17	27					0	0	0	0	T	82833070	C	T	82833070	2	4	94	1	0	0	0	0	0	0	0	1	17234	871	31	1		1	VCAN	5	82833070	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	41998377	82833070	98082190	59	18359											
HSPA9	3313	broad.mit.edu	37	chr5	137906699	137906699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccggccaatgagacgcttGgtagcataaaatgtattgtt	11	11	11	8	3	0	1	0	1	0	1	0	2	0	1	2	2	1	5	2	2	5	6			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:137906699G>A	ENST00000297185.3	-	4	485	c.360C>T	c.(358-360)acC>acT	p.T120T		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	120					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAGACGCTTGGTAGCATAAA	0.468													24	68					0	0	0	0	A	137906699	G	A	137906699	2	1	94	1	0	0	0	0	0	0	0	1	7469	1335	47	4		4	HSPA9	5	137906699	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	55073629	137906699	43008561	60	18360											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788504	140788504	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccggttttcagcagagaCgaatatagaattagtcttag	12	11	9	9	2	2	2	1	0	1	2	2	4	2	2	2	1	1	2	2	1	6	6			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:140788504C>T	ENST00000520790.1	+	1	735	c.735C>T	c.(733-735)gaC>gaT	p.D245D	PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCAGAGACGAATATAGAA	0.502													3	14					0	0	0	0	T	140788504	C	T	140788504	2	4	94	1	0	0	0	0	0	0	0	1	11638	535	19	1		1	PCDHGB6	5	140788504	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	2881805	140788504	40126756	61	18361											
ZNF300	91975	broad.mit.edu	37	chr5	150277669	150277669	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggatagatccaatttgAtatgtctccctttatgatcc	10	16	6	9	0	2	3	0	2	2	1	5	4	4	4	3	1	0	0	3	1	4	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:150277669A>G	ENST00000427179.1	-	5	446	c.220T>C	c.(220-222)Tca>Cca	p.S74P	ZNF300_ENST00000394226.2_Missense_Mutation_p.S74P|ZNF300_ENST00000446148.2_Missense_Mutation_p.S90P|ZNF300_ENST00000418587.2_Missense_Mutation_p.S38P|ZNF300_ENST00000274599.5_Missense_Mutation_p.S74P			Q96RE9	ZN300_HUMAN	zinc finger protein 300	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCAATTTGATATGTCTCCC	0.378													19	60					0	0	0	0	G	150277669	A	G	150277669	3	3	94	1	0	0	0	0	1	0	0	0	17926	333	12	5	1602	5	ZNF300	5	150277669	Missense_Mutation	SNP	A	TCGA-CN-6013-01A-11D-1683-08	9489165	150277669	30637591	62	18362											
KCNMB1	3779	broad.mit.edu	37	chr5	169812329	169812329	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcagtaccttttctggtaGaggggcagcacagtcgtgac	8	10	13	10	1	2	2	1	1	1	1	3	2	2	2	1	3	2	5	1	3	2	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:169812329G>A	ENST00000274629.4	-	2	565	c.123C>T	c.(121-123)ctC>ctT	p.L41L	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Silent_p.L41L	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	41					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TTTTCTGGTAGAGGGGCAGCA	0.597													24	68					0	0	0	0	A	169812329	G	A	169812329	2	1	94	1	0	0	0	0	0	0	0	1	8127	929	33	2		2	KCNMB1	5	169812329	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	19534660	169812329	11102931	63	18363											
ADAMTS2	9509	broad.mit.edu	37	chr5	178557035	178557035	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatggcaatgaaggttttGgaactggcatccacgtcatt	10	11	10	10	1	1	1	1	1	0	0	2	2	2	2	2	4	1	3	2	4	3	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:178557035G>A	ENST00000251582.7	-	16	2456	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	785	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGAAGGTTTTGGAACTGGCAT	0.567													15	38					0	0	0	0	A	178557035	G	A	178557035	2	1	94	1	0	0	0	0	0	0	0	1	265	1335	47	4		4	ADAMTS2	5	178557035	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	8744706	178557035	2358225	64	18364											
HIST1H2AK	8330	broad.mit.edu	37	chr6	27805967	27805967	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccaacaccgccgccaggtAcaccggcgctccggcaccga	8	3	10	20	6	0	0	0	0	0	0	2	1	2	0	7	3	2	3	7	3	2	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:27805967A>T	ENST00000330180.2	-	1	150	c.151T>A	c.(151-153)Tac>Aac	p.Y51N		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	51					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						GCCGCCAGGTACACCGGCGCT	0.657													7	52					0	0	0	0	T	27805967	A	T	27805967	3	4	94	1	0	0	0	0	1	0	0	0	7187	391	14	5	245	5	HIST1H2AK	6	27805967	Missense_Mutation	SNP	A	TCGA-CN-6013-01A-11D-1683-08		27805967	143309100	65	18365											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860925	27860925	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcttgccacgtccagaCatggtaaaacgacctgtggc	9	8	10	14	2	0	1	0	0	0	1	1	2	1	1	4	2	3	2	4	2	2	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:27860925C>T	ENST00000359611.2	-	1	38	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	1					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CACGTCCAGACATGGTAAAAC	0.577													23	20					0	0	0	0	T	27860925	C	T	27860925	1	4	94	1	0	0	0	0	0	0	0	0	7189	478	17	4		4	HIST1H2AM	6	27860925	Translation_Start_Site	SNP	C	TCGA-CN-6013-01A-11D-1683-08	54958	27860925	143254142	66	18366											
VARS	7407	broad.mit.edu	37	chr6	31749637	31749637	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttgccttgctggagactGatcttgtcaggggacactcc	6	11	12	12	0	2	2	1	1	1	1	3	4	3	3	3	3	2	1	3	3	0	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:31749637G>A	ENST00000375663.3	-	19	2774	c.2334C>T	c.(2332-2334)atC>atT	p.I778I	VARS_ENST00000444930.2_3'UTR|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	778					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCTGGAGACTGATCTTGTCAG	0.622													7	217					0	0	0	0	A	31749637	G	A	31749637	2	1	94	1	0	0	0	0	0	0	0	1	17219	1280	45	2		2	VARS	6	31749637	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	3888712	31749637	139365430	67	18367											
KIF6	221458	broad.mit.edu	37	chr6	39513400	39513400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaactttacgcatatccgCgccaacctctaatctactgt	11	12	5	13	3	2	1	0	1	2	0	3	1	3	1	3	0	4	1	3	0	6	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:39513400C>T	ENST00000287152.7	-	11	1340	c.1246G>A	c.(1246-1248)Gcg>Acg	p.A416T	KIF6_ENST00000373216.3_Missense_Mutation_p.A416T|KIF6_ENST00000373213.4_Missense_Mutation_p.A255T|KIF6_ENST00000373215.3_Missense_Mutation_p.A416T|KIF6_ENST00000538893.1_Missense_Mutation_p.A416T	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	416					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGCATATCCGCGCCAACCTCT	0.368													33	52					0	0	0	0	T	39513400	C	T	39513400	3	4	94	1	0	0	0	0	1	0	0	0	8359	768	27	1	1250	1	KIF6	6	39513400	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	7763763	39513400	131601667	68	18368											
EYS	346007	broad.mit.edu	37	chr6	66204797	66204797	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctggcagaactgctgtttCactgtcacatttagtcgaag	9	13	9	10	1	2	1	2	0	0	1	4	2	3	1	1	1	2	3	1	1	3	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:66204797C>T	ENST00000503581.1	-	4	1044	c.507G>A	c.(505-507)gtG>gtA	p.V169V	EYS_ENST00000370621.3_Silent_p.V169V|EYS_ENST00000393380.2_Silent_p.V169V|EYS_ENST00000342421.5_Silent_p.V169V|EYS_ENST00000370616.2_Silent_p.V169V|EYS_ENST00000370618.3_Silent_p.V169V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	169					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACTGCTGTTTCACTGTCACAT	0.433													11	30					0	0	0	0	T	66204797	C	T	66204797	2	4	94	1	0	0	0	0	0	0	0	1	5370	813	29	2		2	EYS	6	66204797	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	26691397	66204797	104910270	69	18369											
DOPEY1	23033	broad.mit.edu	37	chr6	83818774	83818774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtattcttcctggcttaGaagaaggatcagagtactat	11	13	10	7	0	2	3	1	0	1	3	3	4	3	4	1	3	1	3	1	3	6	6			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:83818774G>A	ENST00000349129.2	+	5	726	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	DOPEY1_ENST00000369739.3_Missense_Mutation_p.E156K|DOPEY1_ENST00000536812.1_Missense_Mutation_p.E156K|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E156K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	156					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCCTGGCTTAGAAGAAGGATC	0.373													23	73					0	0	0	0	A	83818774	G	A	83818774	3	1	94	1	0	0	0	0	1	0	0	0	4743	943	33	2	476	2	DOPEY1	6	83818774	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	17613977	83818774	87296293	70	18370											
DOPEY1	23033	broad.mit.edu	37	chr6	83847361	83847361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaaattgaagatgactcCattcaacagagtcagaatgc	17	10	7	7	0	2	5	2	2	0	3	3	5	3	5	1	0	2	0	1	0	5	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:83847361C>T	ENST00000349129.2	+	21	3860	c.3600C>T	c.(3598-3600)tcC>tcT	p.S1200S	DOPEY1_ENST00000369739.3_Silent_p.S1191S|DOPEY1_ENST00000237163.5_Silent_p.S1181S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1200					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGATGACTCCATTCAACAGA	0.413													10	30					0	0	0	0	T	83847361	C	T	83847361	2	4	94	1	0	0	0	0	0	0	0	1	4743	581	21	4		4	DOPEY1	6	83847361	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	28587	83847361	87267706	71	18371											
C6orf165	154313	broad.mit.edu	37	chr6	88173822	88173822	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attgttcccaagtgtaccctCcaaaggacactagcacccag	12	8	7	14	0	0	0	0	0	0	0	2	1	2	1	4	1	2	3	4	1	4	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:88173822C>G	ENST00000507897.1	+	13	1806	c.1723C>G	c.(1723-1725)Cca>Gca	p.P575A	C6ORF165_ENST00000369562.4_Missense_Mutation_p.P575A|C6orf165_ENST00000506888.1_3'UTR			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	575										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGTGTACCCTCCAAAGGACAC	0.473													9	30					0	0	0	0	G	88173822	C	G	88173822	3	3	94	1	0	0	0	0	1	0	0	0	2362	855	30	2	1769	2	C6orf165	6	88173822	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	4326461	88173822	82941245	72	18372											
EPHA7	2045	broad.mit.edu	37	chr6	93979222	93979222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattttacctgtagcttcctCtagtgtagcaacatcaagtc	10	14	6	11	0	2	0	1	0	1	0	4	0	3	0	2	0	4	4	2	0	6	6			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:93979222C>T	ENST00000369303.4	-	7	1790	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	536						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTAGCTTCCTCTAGTGTAGCA	0.353													14	62					0	0	0	0	T	93979222	C	T	93979222	3	4	94	1	0	0	0	0	1	0	0	0	5210	922	32	2	1434	2	EPHA7	6	93979222	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	5805400	93979222	77135845	73	18373											
AIM1	202	broad.mit.edu	37	chr6	106973169	106973169	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatatagtgaacccgacgtCtctgagaagtgcattgaagt	13	11	10	7	2	1	3	0	3	1	1	2	5	1	3	1	0	2	1	1	0	6	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:106973169C>T	ENST00000369066.3	+	4	3583	c.3096C>T	c.(3094-3096)gtC>gtT	p.V1032V		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1032	Beta/gamma crystallin 'Greek key' 1.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AACCCGACGTCTCTGAGAAGT	0.403													31	145					0	0	0	0	T	106973169	C	T	106973169	2	4	94	1	0	0	0	0	0	0	0	1	430	900	32	2		2	AIM1	6	106973169	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	12993947	106973169	64141898	74	18374											
RSPH4A	345895	broad.mit.edu	37	chr6	116937941	116937941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagcaggggccagaaactgGacgccagtcccgaagcagcc	12	2	14	13	2	0	1	0	0	0	1	1	4	1	2	4	3	4	2	4	3	3	0			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:116937941G>A	ENST00000229554.5	+	1	292	c.155G>A	c.(154-156)gGa>gAa	p.G52E	RSPH4A_ENST00000368581.4_Missense_Mutation_p.G52E|RSPH4A_ENST00000368580.4_Missense_Mutation_p.G52E	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	52					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCAGAAACTGGACGCCAGTCC	0.612									Kartagener syndrome				5	27					0	0	0	0	A	116937941	G	A	116937941	3	1	94	1	0	0	0	0	1	0	0	0	13791	1174	41	2	157	2	RSPH4A	6	116937941	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	9964772	116937941	54177126	75	18375											
SYNE1	23345	broad.mit.edu	37	chr6	152510447	152510447	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgcgttcattaagaatggaGatatcatcagcactgatata	15	11	8	7	2	3	3	3	1	0	2	3	4	3	3	0	1	1	2	0	1	5	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:152510447G>A	ENST00000367255.5	-	128	23842	c.23241C>T	c.(23239-23241)atC>atT	p.I7747I	SYNE1_ENST00000356820.4_Silent_p.I2271I|SYNE1_ENST00000265368.4_Silent_p.I7747I|SYNE1_ENST00000341594.5_Silent_p.I7359I|SYNE1_ENST00000448038.1_Silent_p.I7676I|SYNE1_ENST00000423061.1_Silent_p.I7676I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7747					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAAGAATGGAGATATCATCAG	0.433										HNSCC(10;0.0054)			15	80					0	0	0	0	A	152510447	G	A	152510447	2	1	94	1	0	0	0	0	0	0	0	1	15536	932	33	2		2	SYNE1	6	152510447	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	35572506	152510447	18604620	76	18376											
SYNE1	23345	broad.mit.edu	37	chr6	152776622	152776622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccctcctgagcaatcCgcagtaccttctccaactct	8	9	6	18	1	2	1	0	1	2	0	5	1	4	1	6	1	3	3	6	1	3	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:152776622C>T	ENST00000367255.5	-	24	3432	c.2831G>A	c.(2830-2832)cGg>cAg	p.R944Q	SYNE1_ENST00000265368.4_Missense_Mutation_p.R944Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.R944Q|SYNE1_ENST00000495090.2_Missense_Mutation_p.R511Q|SYNE1_ENST00000413186.2_Missense_Mutation_p.R944Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1010Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R951Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R951Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.R934Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	944					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGAGCAATCCGCAGTACCTT	0.507										HNSCC(10;0.0054)			4	73					0	0	0	0	T	152776622	C	T	152776622	3	4	94	1	0	0	0	0	1	0	0	0	15536	652	23	1	24127	1	SYNE1	6	152776622	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	266175	152776622	18338445	77	18377											
RPS6KA2	6196	broad.mit.edu	37	chr6	166944772	166944772	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtagagctgcccagcgtcGgaccccttcaccttcctcac	6	8	9	18	3	2	1	2	0	0	1	4	2	3	2	5	1	3	2	5	1	1	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:166944772G>A	ENST00000510118.1	-	5	661	c.321C>T	c.(319-321)tcC>tcT	p.S107S	RPS6KA2_ENST00000405189.3_5'UTR|RPS6KA2_ENST00000503859.1_Silent_p.S90S|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000481261.2_5'UTR|RPS6KA2_ENST00000265678.4_Silent_p.S82S			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	82	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCCCAGCGTCGGACCCCTTCA	0.498													23	66					0	0	0	0	A	166944772	G	A	166944772	2	1	94	1	0	0	0	0	0	0	0	1	13736	1103	39	1		1	RPS6KA2	6	166944772	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	14168150	166944772	4170295	78	18378											
ZNF12	7559	broad.mit.edu	37	chr7	6731675	6731675	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggatttcccacactgatTacattcgtaaggtttctctc	10	14	7	10	1	1	1	0	1	1	0	5	3	2	2	1	2	1	2	1	2	3	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:6731675T>A	ENST00000405858.1	-	5	1439	c.898A>T	c.(898-900)Aat>Tat	p.N300Y	AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.N226Y|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.N262Y	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	300					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CCACACTGATTACATTCGTAA	0.423													10	60					0	0	0	0	A	6731675	T	A	6731675	3	1	94	1	0	0	0	0	1	0	0	0	17813	1754	61	5	1199	5	ZNF12	7	6731675	Missense_Mutation	SNP	T	TCGA-CN-6013-01A-11D-1683-08		6731675	152406988	79	18379											
ZNF12	7559	broad.mit.edu	37	chr7	6731957	6731957	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatacgaattttctgataaaGactttcttcatttagagtat	14	17	5	5	1	3	3	1	1	2	2	3	4	3	3	0	0	1	1	0	0	7	9			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:6731957G>C	ENST00000405858.1	-	5	1157	c.616C>G	c.(616-618)Ctt>Gtt	p.L206V	ZNF12_ENST00000404360.1_Missense_Mutation_p.L132V|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.L168V	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	206					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTCTGATAAAGACTTTCTTCA	0.328													6	26					0	0	0	0	C	6731957	G	C	6731957	3	2	94	1	0	0	0	0	1	0	0	0	17813	942	33	2	1481	2	ZNF12	7	6731957	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	282	6731957	152406706	80	18380											
RFC2	5982	broad.mit.edu	37	chr7	73663387	73663387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatggcatctttgagtgctGggcccagcagggcccgggcc	6	7	15	13	1	1	1	0	1	1	0	1	1	1	1	3	4	2	3	3	4	0	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:73663387G>A	ENST00000055077.3	-	4	347	c.287C>T	c.(286-288)cCa>cTa	p.P96L	RFC2_ENST00000352131.3_Missense_Mutation_p.P96L	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	96					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TTTGAGTGCTGGGCCCAGCAG	0.542													25	106					0	0	0	0	A	73663387	G	A	73663387	3	1	94	1	0	0	0	0	1	0	0	0	13327	1348	47	4	809	4	RFC2	7	73663387	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	66931430	73663387	85475276	81	18381											
SEMA3E	9723	broad.mit.edu	37	chr7	83029401	83029401	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttccactcgatctactgCtatttgtttcaggttatatt	8	18	6	9	1	2	0	1	0	1	0	4	1	3	0	1	1	3	4	1	1	4	8			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:83029401C>A	ENST00000307792.3	-	11	1776	c.1309G>T	c.(1309-1311)Gca>Tca	p.A437S	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A377S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	437	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CGATCTACTGCTATTTGTTTC	0.378													26	123					1.77063e-15	1.93891e-15	1	0	A	83029401	C	A	83029401	3	1	94	1	0	0	0	0	1	0	0	0	14115	797	28	4	1046	4	SEMA3E	7	83029401	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	9366014	83029401	76109262	82	18382											
TRRAP	8295	broad.mit.edu	37	chr7	98601841	98601841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagcgttccaggatccatGaagcttcataatcttatttc	10	15	6	10	1	3	1	2	1	1	0	6	2	5	2	2	1	2	2	2	1	3	6			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:98601841G>A	ENST00000359863.4	+	67	10505	c.10296G>A	c.(10294-10296)atG>atA	p.M3432I	TRRAP_ENST00000446306.3_Missense_Mutation_p.M3421I|TRRAP_ENST00000355540.3_Missense_Mutation_p.M3403I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3432					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGATCCATGAAGCTTCATA	0.378													25	153					0	0	0	0	A	98601841	G	A	98601841	3	1	94	1	0	0	0	0	1	0	0	0	16696	1290	45	2	10467	2	TRRAP	7	98601841	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	15572440	98601841	60536822	83	18383											
CYP3A7	1551	broad.mit.edu	37	chr7	99305456	99305456	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtttctttacaaggtttGaaggagaagttctgaaggac	11	14	12	4	0	2	3	0	2	2	1	2	5	2	4	0	3	1	3	0	3	5	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:99305456G>A	ENST00000336374.2	-	12	1397	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	465					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TACAAGGTTTGAAGGAGAAGT	0.353													24	184					0	0	0	0	A	99305456	G	A	99305456	2	1	94	1	0	0	0	0	0	0	0	1	4213	1281	45	2		2	CYP3A7	7	99305456	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	703615	99305456	59833207	84	18384											
SLC12A9	56996	broad.mit.edu	37	chr7	100463640	100463640	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggtctgggggcacctctCagctgcaccatgtggacgtg	5	8	17	11	1	2	0	1	0	2	0	3	1	2	1	2	5	2	3	2	5	0	0			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:100463640C>T	ENST00000354161.3	+	14	2283	c.2158C>T	c.(2158-2160)Cag>Tag	p.Q720*		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	720						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGCACCTCTCAGCTGCACCA	0.692													31	317					0	0	0	0	T	100463640	C	T	100463640	4	4	94	1	0	0	0	0	0	1	0	0	14478	827	29	2	2208	2	SLC12A9	7	100463640	Nonsense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	1158184	100463640	58675023	85	18385											
DOCK4	9732	broad.mit.edu	37	chr7	111400292	111400292	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggttggcgtgctgcatggcGatggcatgggggaactcgtt	5	11	18	7	3	0	0	0	0	0	0	1	2	0	1	0	6	3	5	0	6	1	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:111400292G>A	ENST00000428084.1	-	40	4379	c.4107C>T	c.(4105-4107)atC>atT	p.I1369I	DOCK4_ENST00000494651.2_Silent_p.I243I|DOCK4_ENST00000437633.1_Silent_p.I1360I			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1360	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCTGCATGGCGATGGCATGGG	0.547													27	245					0	0	0	0	A	111400292	G	A	111400292	2	1	94	1	0	0	0	0	0	0	0	1	4725	1048	37	1		1	DOCK4	7	111400292	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	10936652	111400292	47738371	86	18386											
KEL	3792	broad.mit.edu	37	chr7	142651327	142651327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccctgtgcccgccgctgctCcaggggcctcagaaactgga	6	6	13	16	2	1	1	1	0	0	1	2	2	2	2	5	3	3	2	5	3	1	0			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:142651327C>T	ENST00000355265.2	-	8	1342	c.868G>A	c.(868-870)Gag>Aag	p.E290K	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	290					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGCCGCTGCTCCAGGGGCCTC	0.582													4	30					0	0	0	0	T	142651327	C	T	142651327	3	4	94	1	0	0	0	0	1	0	0	0	8194	864	30	2	1378	2	KEL	7	142651327	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	31251035	142651327	16487336	87	18387											
RP1	6101	broad.mit.edu	37	chr8	55537230	55537230	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactcttaaaatctttaaagTaagcacacatatgtcttcaa	16	14	3	8	0	4	0	1	0	3	0	4	0	4	0	0	0	2	2	0	0	8	7			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:55537230T>A	ENST00000220676.1	+	4	936	c.787_splice	c.e4-1	p.I263_splice		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	263					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATCTTTAAAGTAAGCACACAT	0.333													20	55					0	0	0	0	A	55537230	T	A	55537230	5	1	94	1	0	0	0	0	0	0	1	0	13617	1652	57	5	798	5	RP1	8	55537230	Splice_Site	SNP	T	TCGA-CN-6013-01A-11D-1683-08		55537230	90826792	88	18388											
PREX2	80243	broad.mit.edu	37	chr8	68992764	68992764	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggatcaaatatgaaacatCgacttatgaaacatgactta	18	10	7	6	1	1	3	1	3	0	0	2	5	1	4	0	1	2	0	0	1	6	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:68992764C>T	ENST00000288368.4	+	16	2006	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	577					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TATGAAACATCGACTTATGAA	0.313													3	53					0	0	0	0	T	68992764	C	T	68992764	4	4	94	1	0	0	0	0	0	1	0	0	12557	876	31	1	1791	1	PREX2	8	68992764	Nonsense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	13455534	68992764	77371258	89	18389											
KCNB2	9312	broad.mit.edu	37	chr8	73849010	73849010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctgttgagaaggccggaGagtccgccaacacaaaggac	12	5	14	10	2	0	2	0	1	0	2	1	5	1	3	3	4	1	2	3	4	3	1	rs140088625		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:73849010G>A	ENST00000523207.1	+	3	2008	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	474					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.E474K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAAGGCCGGAGAGTCCGCCAA	0.532													18	110					0	0	0	0	A	73849010	G	A	73849010	3	1	94	1	0	0	0	0	1	0	0	0	8066	943	33	2	1426	2	KCNB2	8	73849010	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	4856246	73849010	72515012	90	18390											
CSMD3	114788	broad.mit.edu	37	chr8	113326672	113326672	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttaccatcatacacctgaAgaacatcaaattccttttct	13	13	4	11	0	3	2	2	1	1	1	4	2	4	2	3	1	3	1	3	1	5	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:113326672A>C	ENST00000297405.5	-	48	7779	c.7535T>G	c.(7534-7536)cTt>cGt	p.L2512R	CSMD3_ENST00000343508.3_Missense_Mutation_p.L2472R|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2408R|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2442R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2512	CUB 14.					integral to membrane|plasma membrane		p.L2512H(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACACCTGAAGAACATCAAA	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	53					0	0	0	0	C	113326672	A	C	113326672	3	2	94	1	0	0	0	0	1	0	0	0	3978	72	3	5	3684	5	CSMD3	8	113326672	Missense_Mutation	SNP	A	TCGA-CN-6013-01A-11D-1683-08	39477662	113326672	33037350	91	18391											
RAD21	5885	broad.mit.edu	37	chr8	117868438	117868438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctccaatgcaaatgcttCttcctcatttggaacaagtg	11	12	8	10	0	2	0	1	0	1	0	4	1	4	1	2	2	3	3	2	2	4	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:117868438C>T	ENST00000297338.2	-	8	1191	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	302	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GCAAATGCTTCTTCCTCATTT	0.398													14	108					0	0	0	0	T	117868438	C	T	117868438	3	4	94	1	0	0	0	0	1	0	0	0	13063	922	32	2	1019	2	RAD21	8	117868438	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	4541766	117868438	28495584	92	18392											
PTK2	5747	broad.mit.edu	37	chr8	141900645	141900645	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaaaaacgtacttaccctGacatcagtagcatctccatg	13	10	7	11	1	2	1	1	1	1	0	3	2	2	2	2	1	4	3	2	1	5	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:141900645G>C	ENST00000522684.1	-	3	421	c.192C>G	c.(190-192)gtC>gtG	p.V64V	PTK2_ENST00000517887.1_Silent_p.V108V|PTK2_ENST00000340930.3_Silent_p.V64V|PTK2_ENST00000521059.1_Silent_p.V64V|PTK2_ENST00000395218.2_Silent_p.V64V|PTK2_ENST00000519419.1_Silent_p.V108V|PTK2_ENST00000520892.1_Silent_p.V64V|PTK2_ENST00000535192.1_Silent_p.V64V|PTK2_ENST00000519881.1_Silent_p.V64V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	64	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TACTTACCCTGACATCAGTAG	0.343													12	69					0	0	0	0	C	141900645	G	C	141900645	2	2	94	1	0	0	0	0	0	0	0	1	12842	1277	45	2		2	PTK2	8	141900645	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	24032207	141900645	4463377	93	18393											
ACER2	340485	broad.mit.edu	37	chr9	19435048	19435048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctctgatgaccctgggagttCcttgcactgcactgctcatc	6	12	9	14	0	2	2	1	2	1	0	4	3	3	3	2	1	3	4	2	1	0	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:19435048C>T	ENST00000340967.2	+	4	495	c.469C>T	c.(469-471)Cct>Tct	p.P157S	ACER2_ENST00000380376.1_Missense_Mutation_p.P108S	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	157					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CCTGGGAGTTCCTTGCACTGC	0.552													16	48					0	0	0	0	T	19435048	C	T	19435048	3	4	94	1	0	0	0	0	1	0	0	0	139	855	30	2	483	2	ACER2	9	19435048	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08		19435048	121778383	94	18394											
CDKN2A	1029	broad.mit.edu	37	chr9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgtgtccaggaagccctCccgggcagcgtcgtgcacgg	6	5	15	15	5	0	0	0	0	0	0	3	1	2	1	3	3	4	2	3	3	1	0	rs121913384		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:21971096C>A	ENST00000304494.5	-	2	532	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	9					1.5842e-08	1.69279e-08	1	0	A	21971096	C	A	21971096	4	1	94	1	0	0	0	0	0	1	0	0	3190	864	30	2	216	2	CDKN2A	9	21971096	Nonsense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	2536048	21971096	119242335	95	18395											
RUSC2	9853	broad.mit.edu	37	chr9	35558285	35558285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgcgccgtgctggaggatgGgctcaaggcctttgtactgg	5	9	16	11	3	1	0	1	0	0	0	1	2	1	2	3	5	2	3	3	5	2	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:35558285G>A	ENST00000455600.1	+	7	3721	c.3152G>A	c.(3151-3153)gGg>gAg	p.G1051E		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1051	RUN.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGAGGATGGGCTCAAGGCC	0.582													8	58					0	0	0	0	A	35558285	G	A	35558285	3	1	94	1	0	0	0	0	1	0	0	0	13836	1232	43	4	3174	4	RUSC2	9	35558285	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	13587189	35558285	105655146	96	18396											
FBXO10	26267	broad.mit.edu	37	chr9	37512661	37512661	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggctgccgagggacgtctGagagaattttcaaggtgggg	8	9	18	6	2	2	2	1	1	1	1	2	5	2	3	1	5	1	1	1	5	2	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:37512661G>C	ENST00000432825.2	-	11	2802	c.2754C>G	c.(2752-2754)ctC>ctG	p.L918L	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.L443L	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	918						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGGGACGTCTGAGAGAATTTT	0.582													18	54					0	0	0	0	C	37512661	G	C	37512661	2	2	94	1	0	0	0	0	0	0	0	1	5771	1277	45	2		2	FBXO10	9	37512661	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	1954376	37512661	103700770	97	18397											
SHB	6461	broad.mit.edu	37	chr9	38016078	38016078	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctttcctgctttgctcttGagatcattcttggcatcaaa	7	16	6	12	0	4	1	2	1	2	1	5	2	5	1	2	1	2	3	2	1	1	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:38016078G>C	ENST00000377707.3	-	2	1333	c.768C>G	c.(766-768)ctC>ctG	p.L256L	RP11-613M10.9_ENST00000540557.1_Silent_p.L256L|SHB_ENST00000377700.4_Silent_p.L256L	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	256	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CTTTGCTCTTGAGATCATTCT	0.522													6	83					0	0	0	0	C	38016078	G	C	38016078	2	2	94	1	0	0	0	0	0	0	0	1	14356	1277	45	2		2	SHB	9	38016078	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	503417	38016078	103197353	98	18398											
NXNL2	158046	broad.mit.edu	37	chr9	91150602	91150602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgctggacttcatgcgcGagctgcatggcgcctggctg	6	9	15	11	3	1	1	1	0	0	1	1	3	1	2	1	3	4	4	1	3	0	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:91150602G>A	ENST00000375855.3	+	1	583	c.253G>A	c.(253-255)Gag>Aag	p.E85K	NXNL2_ENST00000375854.3_Missense_Mutation_p.E85K|NXNL2_ENST00000487646.2_3'UTR	NM_145283.2	NP_660326.2	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2	85	Thioredoxin.									lung(3)	3						CTTCATGCGCGAGCTGCATGG	0.726													3	37					0	0	0	0	A	91150602	G	A	91150602	3	1	94	1	0	0	0	0	1	0	0	0	10860	1059	37	1	255	1	NXNL2	9	91150602	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	53134524	91150602	50062829	99	18399											
XPA	7507	broad.mit.edu	37	chr9	100459507	100459507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcgatactcgcccgcaccGaggcaggcagctccgcgggt	6	5	14	16	6	0	0	0	0	0	0	3	2	1	0	3	3	2	5	3	3	1	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:100459507G>A	ENST00000375128.4	-	1	132	c.68C>T	c.(67-69)tCg>tTg	p.S23L		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	23	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CGCCCGCACCGAGGCAGGCAG	0.731			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	26					0	0	0	0	A	100459507	G	A	100459507	3	1	94	1	0	0	0	0	1	0	0	0	17536	1059	37	1	777	1	XPA	9	100459507	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	9308905	100459507	40753924	100	18400											
ZNF189	7743	broad.mit.edu	37	chr9	104170889	104170889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaccttattgagcatcaaaGaactcacactggtgagaaac	16	8	7	10	0	2	3	2	2	0	2	2	4	2	3	1	1	3	1	1	1	4	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:104170889G>A	ENST00000374861.3	+	3	1081	c.797G>A	c.(796-798)aGa>aAa	p.R266K	ZNF189_ENST00000339664.2_Missense_Mutation_p.R280K|ZNF189_ENST00000259395.4_Missense_Mutation_p.R238K	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	280					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGCATCAAAGAACTCACACT	0.393													27	226					0	0	0	0	A	104170889	G	A	104170889	3	1	94	1	0	0	0	0	1	0	0	0	17849	942	33	2	849	2	ZNF189	9	104170889	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	3711382	104170889	37042542	101	18401											
GOLGA2	2801	broad.mit.edu	37	chr9	131019928	131019928	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgatgtactcctccttCtcccggtgccgctccttcag	3	13	8	17	2	2	1	1	1	1	0	6	1	5	1	5	1	3	3	5	1	1	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:131019928C>T	ENST00000421699.2	-	24	2601	c.2589G>A	c.(2587-2589)gaG>gaA	p.E863E		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	863						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ACTCCTCCTTCTCCCGGTGCC	0.622													26	102					0	0	0	0	T	131019928	C	T	131019928	2	4	94	1	0	0	0	0	0	0	0	1	6603	912	32	2		2	GOLGA2	9	131019928	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	26849039	131019928	10193503	102	18402											
SETX	23064	broad.mit.edu	37	chr9	135163631	135163631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgcaaagatacctgtatttCccgtccacctcggcatagag	11	10	8	12	2	0	2	0	0	0	2	3	2	2	2	4	1	2	3	4	1	4	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:135163631C>T	ENST00000372169.2	-	17	6498	c.6316G>A	c.(6316-6318)Gaa>Aaa	p.E2106K	SETX_ENST00000393220.1_Missense_Mutation_p.E2106K|SETX_ENST00000224140.5_Missense_Mutation_p.E2106K			Q7Z333	SETX_HUMAN	senataxin	2106					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACCTGTATTTCCCGTCCACCT	0.428													10	22					0	0	0	0	T	135163631	C	T	135163631	3	4	94	1	0	0	0	0	1	0	0	0	14228	864	30	2	1757	2	SETX	9	135163631	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	4143703	135163631	6049800	103	18403											
PFKFB3	5209	broad.mit.edu	37	chr10	6257227	6257227	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggaggctgtgaagcagtaCagctcctacaacttcttccg	9	9	11	12	2	1	1	0	1	1	0	3	2	3	2	2	2	5	4	2	2	4	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:6257227C>T	ENST00000379775.4	+	3	576	c.246C>T	c.(244-246)taC>taT	p.Y82Y	PFKFB3_ENST00000317350.4_Silent_p.Y82Y|PFKFB3_ENST00000360521.2_Silent_p.Y82Y|PFKFB3_ENST00000379789.4_Silent_p.Y62Y|PFKFB3_ENST00000379785.1_Silent_p.Y82Y|PFKFB3_ENST00000540253.1_Silent_p.Y96Y|PFKFB3_ENST00000536985.1_Silent_p.Y62Y|PFKFB3_ENST00000379782.3_Silent_p.Y82Y	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	82	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGAAGCAGTACAGCTCCTACA	0.592													7	17					0	0	0	0	T	6257227	C	T	6257227	2	4	94	1	0	0	0	0	0	0	0	1	11834	489	17	4		4	PFKFB3	10	6257227	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08		6257227	129277520	104	18404											
ZNF37A	7587	broad.mit.edu	37	chr10	38407109	38407109	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaaaagtcaacccttactCaacatcaaagaacgcacaca	18	6	5	12	1	3	2	3	1	0	1	3	2	3	2	1	0	4	1	1	0	7	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:38407109C>T	ENST00000351773.3	+	8	1860	c.1030C>T	c.(1030-1032)Caa>Taa	p.Q344*	ZNF37A_ENST00000361085.4_Nonsense_Mutation_p.Q344*	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	344						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AACCCTTACTCAACATCAAAG	0.398													11	74					0	0	0	0	T	38407109	C	T	38407109	4	4	94	1	0	0	0	0	0	1	0	0	17967	827	29	2	1044	2	ZNF37A	10	38407109	Nonsense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	32149882	38407109	97127638	105	18405											
RBP3	5949	broad.mit.edu	37	chr10	48388281	48388281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgggctccccaatgaccGtggcccgctgcaggtcctgc	4	7	13	17	3	0	1	0	1	0	0	2	1	2	1	6	3	2	3	6	3	1	0			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:48388281G>A	ENST00000224600.4	-	1	2710	c.2597C>T	c.(2596-2598)aCg>aTg	p.T866M		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	866	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCCAATGACCGTGGCCCGCTG	0.637													6	34					0	0	0	0	A	48388281	G	A	48388281	3	1	94	1	0	0	0	0	1	0	0	0	13239	1145	40	1	1162	1	RBP3	10	48388281	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	9981172	48388281	87146466	106	18406											
KCNMA1	3778	broad.mit.edu	37	chr10	78846273	78846273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgcaagatcatgtggattGaggacggaaccctgataaaa	14	9	11	7	1	1	3	1	2	0	1	1	6	1	6	1	3	2	1	1	3	4	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:78846273G>A	ENST00000286627.5	-	11	2365	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	KCNMA1_ENST00000372443.1_Silent_p.L471L|KCNMA1_ENST00000286628.8_Silent_p.L471L|KCNMA1_ENST00000404857.1_Silent_p.L471L|KCNMA1_ENST00000406533.3_Silent_p.L471L|KCNMA1_ENST00000404771.3_Silent_p.L471L|KCNMA1_ENST00000354353.5_Silent_p.L471L|KCNMA1_ENST00000372440.1_Silent_p.L471L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	471	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CATGTGGATTGAGGACGGAAC	0.483													10	49					0	0	0	0	A	78846273	G	A	78846273	2	1	94	1	0	0	0	0	0	0	0	1	8126	1277	45	2		2	KCNMA1	10	78846273	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	30457992	78846273	56688474	107	18407											
LDB3	11155	broad.mit.edu	37	chr10	88441501	88441501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagagaccctgagggagatGgctcagatgtaccagatgag	12	6	15	8	0	1	6	1	2	0	4	1	8	1	6	2	2	1	3	2	2	1	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:88441501G>T	ENST00000429277.2	+	5	775	c.630G>T	c.(628-630)atG>atT	p.M210I	LDB3_ENST00000372066.3_Intron|LDB3_ENST00000542786.1_Missense_Mutation_p.M210I|LDB3_ENST00000310944.6_Missense_Mutation_p.M210I|LDB3_ENST00000361373.4_Missense_Mutation_p.M210I|LDB3_ENST00000372056.4_Missense_Mutation_p.M210I|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000352360.5_Intron	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	210						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TGAGGGAGATGGCTCAGATGT	0.632													4	169					0.00909568	0.0095271	1	0	T	88441501	G	T	88441501	3	4	94	1	0	0	0	0	1	0	0	0	8750	1348	47	4	644	4	LDB3	10	88441501	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	9595228	88441501	47093246	108	18408											
PSD	5662	broad.mit.edu	37	chr10	104172143	104172143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctagtggctttacttcttGcccaggtgccgggccacatc	5	11	11	14	1	1	0	0	0	1	0	2	0	1	0	4	3	3	1	4	3	2	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:104172143G>A	ENST00000020673.5	-	6	2269	c.1743C>T	c.(1741-1743)ggC>ggT	p.G581G	PSD_ENST00000406432.1_Silent_p.G581G	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	581	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TTTACTTCTTGCCCAGGTGCC	0.602													4	43					0	0	0	0	A	104172143	G	A	104172143	2	1	94	1	0	0	0	0	0	0	0	1	12725	1306	46	4		4	PSD	10	104172143	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	15730642	104172143	31362604	109	18409											
CUEDC2	79004	broad.mit.edu	37	chr10	104184420	104184420	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctacctggggatgtgggcGaagccaggcacataggcctc	9	6	14	12	1	0	0	0	0	0	0	1	2	0	1	4	5	2	1	4	5	3	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:104184420G>A	ENST00000369937.4	-	3	349	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	68						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGATGTGGGCGAAGCCAGGCA	0.597													13	82					0	0	0	0	A	104184420	G	A	104184420	2	1	94	1	0	0	0	0	0	0	0	1	4085	1049	37	1		1	CUEDC2	10	104184420	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	12277	104184420	31350327	110	18410											
SEC23IP	11196	broad.mit.edu	37	chr10	121685713	121685713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctgtgtgtgtgaattatGaatcttttgaagttggcgcc	7	17	11	6	1	2	3	0	3	2	0	2	3	2	3	1	1	0	1	1	1	4	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:121685713G>A	ENST00000369075.3	+	13	2359	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	SEC23IP_ENST00000543134.1_Missense_Mutation_p.E552K	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	763					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGTGAATTATGAATCTTTTGA	0.433													19	92					0	0	0	0	A	121685713	G	A	121685713	3	1	94	1	0	0	0	0	1	0	0	0	14080	1291	45	2	2337	2	SEC23IP	10	121685713	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	17501293	121685713	13849034	111	18411											
SEC23IP	11196	broad.mit.edu	37	chr10	121689932	121689932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatcacaaaggcagaaaaaGacttcatttaggtaaaaagc	20	7	7	7	0	2	2	2	0	0	2	2	2	2	2	0	2	1	2	0	2	7	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:121689932G>C	ENST00000369075.3	+	15	2633	c.2561G>C	c.(2560-2562)aGa>aCa	p.R854T	SEC23IP_ENST00000475542.1_Intron|SEC23IP_ENST00000543134.1_Missense_Mutation_p.R643T	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	854	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	p.R854I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GGCAGAAAAAGACTTCATTTA	0.313													13	54					0	0	0	0	C	121689932	G	C	121689932	3	2	94	1	0	0	0	0	1	0	0	0	14080	942	33	2	2619	2	SEC23IP	10	121689932	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	4219	121689932	13844815	112	18412											
CUZD1	50624	broad.mit.edu	37	chr10	124608956	124608956	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcaggttcctttgcagctCttgagaaaagacacacacaa	13	10	7	11	0	2	2	1	1	1	2	3	3	3	2	1	1	2	3	1	1	3	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:124608956C>G	ENST00000368904.1	-	2	370		c.e2-1		FAM24B_ENST00000368898.3_Splice_Site|FAM24B_ENST00000462859.1_Splice_Site|FAM24B_ENST00000368896.1_Splice_Site|CUZD1_ENST00000545804.1_Intron			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1						cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CTTTGCAGCTCTTGAGAAAAG	0.483													13	59					0	0	0	0	G	124608956	C	G	124608956	5	3	94	1	0	0	0	0	0	0	1	0	4098	927	32	2		2	CUZD1	10	124608956	Splice_Site	SNP	C	TCGA-CN-6013-01A-11D-1683-08	2919024	124608956	10925791	113	18413											
PHRF1	57661	broad.mit.edu	37	chr11	606519	606519	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cctgctgggcagcatcctgtCgggccagagcctcctgatgc	5	8	13	15	1	0	2	0	1	0	1	3	2	2	2	5	2	4	3	5	2	0	0			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:606519C>G	ENST00000264555.5	+	13	1660	c.1532C>G	c.(1531-1533)tCg>tGg	p.S511W	PHRF1_ENST00000533464.1_Missense_Mutation_p.S507W|PHRF1_ENST00000416188.2_Missense_Mutation_p.S510W|PHRF1_ENST00000413872.2_Missense_Mutation_p.S509W	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	511							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AGCATCCTGTCGGGCCAGAGC	0.687													4	19					0	0	0	0	G	606519	C	G	606519	3	3	94	1	0	0	0	0	1	0	0	0	11933	893	31	3	1575	3	PHRF1	11	606519	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08		606519	134399997	114	18414											
IRF7	3665	broad.mit.edu	37	chr11	613228	613228	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaagaagactctgaagtcGaagatgggggtgtcacagtt	12	9	15	5	1	2	4	1	1	1	3	3	6	2	5	0	3	0	1	0	3	4	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:613228G>A	ENST00000397566.1	-	7	1663	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	IRF7_ENST00000348655.6_Silent_p.F376F|IRF7_ENST00000397570.1_Silent_p.F376F|IRF7_ENST00000397574.2_Silent_p.F405F|IRF7_ENST00000525445.1_Silent_p.F299F|IRF7_ENST00000330243.5_Silent_p.F418F|IRF7_ENST00000397562.3_Silent_p.F112F	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	405					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCTGAAGTCGAAGATGGGGG	0.652													5	15					0	0	0	0	A	613228	G	A	613228	2	1	94	1	0	0	0	0	0	0	0	1	7888	1049	37	1		1	IRF7	11	613228	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	6709	613228	134393288	115	18415											
CTR9	9646	broad.mit.edu	37	chr11	10794110	10794110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccagtaccatgtggccCgggcacgcaaacaagatgaa	13	4	12	12	2	0	2	0	1	0	1	0	2	0	2	3	3	2	3	3	3	4	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:10794110C>T	ENST00000361367.2	+	20	2914	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	830					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCATGTGGCCCGGGCACGCAA	0.453													14	42					0	0	0	0	T	10794110	C	T	10794110	3	4	94	1	0	0	0	0	1	0	0	0	4056	643	23	1	2566	1	CTR9	11	10794110	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	10180882	10794110	124212406	116	18416											
INSC	387755	broad.mit.edu	37	chr11	15222370	15222370	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acatttctttctcttggcagGagggtggggtcgtagcactc	6	13	13	9	1	2	0	0	0	2	0	5	1	2	1	0	5	1	3	0	5	1	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:15222370G>A	ENST00000379554.3	+	7	881	c.834_splice	c.e7-1	p.E279_splice	INSC_ENST00000528567.1_Splice_Site_p.E232_splice|INSC_ENST00000530161.1_Splice_Site_p.E232_splice|INSC_ENST00000525218.1_Intron|INSC_ENST00000424273.1_Intron|INSC_ENST00000447214.2_Intron|INSC_ENST00000379556.3_Splice_Site_p.E232_splice	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	279					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CTCTTGGCAGGAGGGTGGGGT	0.547													4	30					0	0	0	0	A	15222370	G	A	15222370	5	1	94	1	0	0	0	0	0	0	1	0	7817	1188	41	2	861	2	INSC	11	15222370	Splice_Site	SNP	G	TCGA-CN-6013-01A-11D-1683-08	4428260	15222370	119784146	117	18417											
DGKZ	8525	broad.mit.edu	37	chr11	46393102	46393102	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgctcgctgggggtccaCgcagccgtggtcatcccgcc	3	7	14	17	5	1	0	1	0	0	0	4	0	3	0	5	3	2	3	5	3	0	0			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:46393102C>T	ENST00000454345.1	+	9	1397	c.1272C>T	c.(1270-1272)caC>caT	p.H424H	DGKZ_ENST00000532868.2_Silent_p.H240H|DGKZ_ENST00000318201.8_Silent_p.H213H|DGKZ_ENST00000395574.3_Silent_p.H202H|DGKZ_ENST00000343674.6_Silent_p.H252H|DGKZ_ENST00000528615.1_Silent_p.H14H|DGKZ_ENST00000527911.1_Silent_p.H236H|DGKZ_ENST00000421244.2_Silent_p.H236H|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Silent_p.H235H	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	424					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGGGGGTCCACGCAGCCGTGG	0.687													7	20					0	0	0	0	T	46393102	C	T	46393102	2	4	94	1	0	0	0	0	0	0	0	1	4511	535	19	1		1	DGKZ	11	46393102	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	31170732	46393102	88613414	118	18418											
PLCB3	5331	broad.mit.edu	37	chr11	64029989	64029989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtccttcgaccccttcactGaggtcatcgtggatggcatc	7	11	10	13	2	2	1	2	1	0	0	6	3	3	2	3	3	0	1	3	3	0	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:64029989G>A	ENST00000540288.1	+	18	2252	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	PLCB3_ENST00000279230.6_Missense_Mutation_p.E717K|PLCB3_ENST00000325234.5_Missense_Mutation_p.E650K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	717	C2.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCCTTCACTGAGGTCATCGT	0.647													18	42					0	0	0	0	A	64029989	G	A	64029989	3	1	94	1	0	0	0	0	1	0	0	0	12101	1291	45	2	2219	2	PLCB3	11	64029989	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	17636887	64029989	70976527	119	18419											
SPSB2	84727	broad.mit.edu	37	chr12	6980481	6980481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgcagaagggagtgtggctCcgctgggagagagaaggagg	10	5	21	5	1	0	3	0	0	0	3	1	7	1	5	1	5	1	3	1	5	2	0			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:6980481C>T	ENST00000524270.1	-	3	853	c.667G>A	c.(667-669)Gag>Aag	p.E223K	SPSB2_ENST00000523102.1_Missense_Mutation_p.E223K	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	223	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GAGTGTGGCTCCGCTGGGAGA	0.617													5	36					0	0	0	0	T	6980481	C	T	6980481	3	4	94	1	0	0	0	0	1	0	0	0	15203	864	30	2	128	2	SPSB2	12	6980481	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08		6980481	126871414	120	18420											
PIK3C2G	5288	broad.mit.edu	37	chr12	18719918	18719918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacctaccttttacaaattCagatcacagaagattcagag	15	10	6	10	0	3	4	3	0	0	4	3	4	3	4	2	0	2	1	2	0	4	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:18719918C>T	ENST00000433979.1	+	28	3931	c.3815C>T	c.(3814-3816)tCa>tTa	p.S1272L	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1313L|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S1272L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1272	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTTACAAATTCAGATCACAGA	0.289													11	76					0	0	0	0	T	18719918	C	T	18719918	3	4	94	1	0	0	0	0	1	0	0	0	11983	838	29	2	3921	2	PIK3C2G	12	18719918	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	11739437	18719918	115131977	121	18421											
SLCO1A2	6579	broad.mit.edu	37	chr12	21422497	21422497	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaattacaatttagttttCaattcatcatctttcaaaac	15	16	2	8	0	5	0	4	0	1	0	5	1	5	0	0	0	2	1	0	0	7	7			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:21422497C>T	ENST00000307378.6	-	16	2718	c.1998G>A	c.(1996-1998)ttG>ttA	p.L666L	SLCO1A2_ENST00000458504.1_Silent_p.L534L|SLCO1A2_ENST00000452078.1_Silent_p.L666L|SLCO1A2_ENST00000537524.1_Silent_p.L534L	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	666					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ATTTAGTTTTCAATTCATCAT	0.299													18	87					0	0	0	0	T	21422497	C	T	21422497	2	4	94	1	0	0	0	0	0	0	0	1	14810	825	29	2		2	SLCO1A2	12	21422497	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	2702579	21422497	112429398	122	18422											
SOX5	6660	broad.mit.edu	37	chr12	23818434	23818434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaatccttgctgggcagctGcagccagtgtccgttgatca	7	10	13	11	1	1	1	1	1	0	0	3	2	3	2	3	2	4	5	3	2	1	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:23818434G>T	ENST00000546136.1	-	6	838	c.836C>A	c.(835-837)gCa>gAa	p.A279E	SOX5_ENST00000451604.2_Missense_Mutation_p.A292E|SOX5_ENST00000309359.1_Missense_Mutation_p.A279E|SOX5_ENST00000545921.1_Missense_Mutation_p.A282E|SOX5_ENST00000381381.2_Missense_Mutation_p.A279E|SOX5_ENST00000537393.1_Missense_Mutation_p.A257E|SOX5_ENST00000541536.1_Missense_Mutation_p.A279E			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	292					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGGGCAGCTGCAGCCAGTGT	0.507													61	95					9.53978e-28	1.0622e-27	1	0	T	23818434	G	T	23818434	3	4	94	1	0	0	0	0	1	0	0	0	15042	1319	46	4	1462	4	SOX5	12	23818434	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	2395937	23818434	110033461	123	18423											
ITPR2	3709	broad.mit.edu	37	chr12	26592150	26592150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttccttgttcatccctttCagttgtattgaacacacggc	8	15	6	12	1	2	1	2	1	0	0	4	1	4	1	2	1	1	3	2	1	2	7			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:26592150C>T	ENST00000381340.3	-	47	6969	c.6553G>A	c.(6553-6555)Gaa>Aaa	p.E2185K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2185					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCATCCCTTTCAGTTGTATTG	0.403													13	88					0	0	0	0	T	26592150	C	T	26592150	3	4	94	1	0	0	0	0	1	0	0	0	7974	835	29	2	1596	2	ITPR2	12	26592150	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	2773716	26592150	107259745	124	18424											
BICD1	636	broad.mit.edu	37	chr12	32369208	32369208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtccttctccatccacCggaaggttgctgaagatgga	9	9	12	11	1	1	2	0	1	1	1	4	4	3	4	4	4	1	3	4	4	2	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:32369208C>T	ENST00000548411.1	+	2	422	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	BICD1_ENST00000281474.5_Missense_Mutation_p.R81W	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	81					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CTCCATCCACCGGAAGGTTGC	0.468													11	28					0	0	0	0	T	32369208	C	T	32369208	3	4	94	1	0	0	0	0	1	0	0	0	1433	643	23	1	247	1	BICD1	12	32369208	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	5777058	32369208	101482687	125	18425											
SYT10	341359	broad.mit.edu	37	chr12	33535294	33535294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atacacatacctatcgtaatCcatgaccgcaatggagaggc	14	8	8	11	2	0	2	0	1	0	1	2	3	1	2	3	2	2	2	3	2	5	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:33535294C>T	ENST00000228567.3	-	5	1656	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	SYT10_ENST00000535526.1_Missense_Mutation_p.D273N	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	454	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTATCGTAATCCATGACCGCA	0.458													6	47					0	0	0	0	T	33535294	C	T	33535294	3	4	94	1	0	0	0	0	1	0	0	0	15557	855	30	2	223	2	SYT10	12	33535294	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	1166086	33535294	100316601	126	18426											
CNTN1	1272	broad.mit.edu	37	chr12	41352971	41352971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagctgaaacatgctggaaGatacacatgcactgcccaga	14	6	10	11	0	0	3	0	1	0	2	0	4	0	4	1	1	6	4	1	1	3	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:41352971G>A	ENST00000551295.2	+	15	1856	c.1739G>A	c.(1738-1740)aGa>aAa	p.R580K	CNTN1_ENST00000360099.3_Missense_Mutation_p.R580K|CNTN1_ENST00000347616.1_Missense_Mutation_p.R580K|CNTN1_ENST00000547849.1_Missense_Mutation_p.R580K|CNTN1_ENST00000348761.2_Missense_Mutation_p.R569K|CNTN1_ENST00000547702.1_Missense_Mutation_p.R580K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	580	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CATGCTGGAAGATACACATGC	0.388													13	53					0	0	0	0	A	41352971	G	A	41352971	3	1	94	1	0	0	0	0	1	0	0	0	3670	942	33	2	1793	2	CNTN1	12	41352971	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	7817677	41352971	92498924	127	18427											
DIP2B	57609	broad.mit.edu	37	chr12	51108292	51108292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagacgaaacaactctttCtggagggatcactgcatcct	11	10	8	12	1	4	1	2	0	2	1	5	4	5	3	1	2	3	1	1	2	2	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:51108292C>G	ENST00000301180.5	+	23	2798	c.2764C>G	c.(2764-2766)Ctg>Gtg	p.L922V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	922						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ACAACTCTTTCTGGAGGGATC	0.473													15	64					0	0	0	0	G	51108292	C	G	51108292	3	3	94	1	0	0	0	0	1	0	0	0	4565	912	32	2	2854	2	DIP2B	12	51108292	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	9755321	51108292	82743603	128	18428											
KRT4	3851	broad.mit.edu	37	chr12	53201525	53201525	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtactcacgcagcattcGtgccagctcctccttggcct	5	11	9	16	2	1	0	1	0	0	0	4	0	3	0	4	2	4	4	4	2	1	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:53201525G>A	ENST00000293774.4	-	7	1741	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	KRT4_ENST00000458244.2_Nonsense_Mutation_p.R397*|KRT4_ENST00000551956.1_Nonsense_Mutation_p.R417*			B4DRS2	B4DRS2_HUMAN	keratin 4	417						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CGCAGCATTCGTGCCAGCTCC	0.602													19	58					0	0	0	0	A	53201525	G	A	53201525	4	1	94	1	0	0	0	0	0	1	0	0	8529	1153	40	1	325	1	KRT4	12	53201525	Nonsense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	2093233	53201525	80650370	129	18429											
CDK17	5128	broad.mit.edu	37	chr12	96728558	96728558	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaattcagacaatgattcAtcaatagtctgacttcctcg	12	12	6	11	1	4	3	3	2	1	1	6	3	5	3	2	0	0	0	2	0	4	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:96728558A>G	ENST00000261211.3	-	2	660	c.57T>C	c.(55-57)gaT>gaC	p.D19D	CDK17_ENST00000543119.2_Silent_p.D19D|CDK17_ENST00000542666.1_Intron	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	19							ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ACAATGATTCATCAATAGTCT	0.368													7	30					0	0	0	0	G	96728558	A	G	96728558	2	3	94	1	0	0	0	0	0	0	0	1	3162	214	8	5		5	CDK17	12	96728558	Silent	SNP	A	TCGA-CN-6013-01A-11D-1683-08	43527033	96728558	37123337	130	18430											
RASAL1	8437	broad.mit.edu	37	chr12	113544929	113544929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatccacatccaccagccGgtccaggaagtctctcacac	10	6	6	19	1	2	0	1	0	1	0	6	1	5	1	6	2	1	0	6	2	1	0	rs61759863		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:113544929G>A	ENST00000546530.1	-	16	1918	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	RASAL1_ENST00000446861.3_Missense_Mutation_p.R544W|RASAL1_ENST00000261729.5_Missense_Mutation_p.R544W|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.R544W	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	544					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCCACCAGCCGGTCCAGGAAG	0.607													16	35					0	0	0	0	A	113544929	G	A	113544929	3	1	94	1	0	0	0	0	1	0	0	0	13145	1115	39	1	812	1	RASAL1	12	113544929	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	16816371	113544929	20306966	131	18431											
GPR133	283383	broad.mit.edu	37	chr12	131475580	131475580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagcatgctttattgtcttCaacgctgccaagcctcttca	10	13	6	12	1	4	0	2	0	2	0	4	0	4	0	2	0	5	3	2	0	4	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:131475580C>T	ENST00000261654.5	+	7	1326	c.767C>T	c.(766-768)tCa>tTa	p.S256L	GPR133_ENST00000535015.1_Missense_Mutation_p.S288L|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	256					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TTATTGTCTTCAACGCTGCCA	0.468													6	17					0	0	0	0	T	131475580	C	T	131475580	3	4	94	1	0	0	0	0	1	0	0	0	6692	838	29	2	793	2	GPR133	12	131475580	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	17930651	131475580	2376315	132	18432											
ULK1	8408	broad.mit.edu	37	chr12	132404541	132404541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtggtgcgcaggctgaatGagctgtacaaggccagcgtg	9	7	16	9	2	0	2	0	2	0	0	0	2	0	2	1	3	4	4	1	3	3	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:132404541G>A	ENST00000321867.4	+	26	3172	c.2821G>A	c.(2821-2823)Gag>Aag	p.E941K	ULK1_ENST00000540647.1_Missense_Mutation_p.E186K	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	941					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CAGGCTGAATGAGCTGTACAA	0.642													11	44					0	0	0	0	A	132404541	G	A	132404541	3	1	94	1	0	0	0	0	1	0	0	0	17071	1291	45	2	2923	2	ULK1	12	132404541	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	928961	132404541	1447354	133	18433											
NHLRC3	387921	broad.mit.edu	37	chr13	39618234	39618234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaccgtttatagatttcatGatcctttggctgcatggaga	9	16	9	7	1	1	3	1	1	0	2	2	4	2	3	2	2	2	3	2	2	3	6			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:39618234G>A	ENST00000379600.3	+	5	916	c.594G>A	c.(592-594)atG>atA	p.M198I	NHLRC3_ENST00000379599.2_Missense_Mutation_p.M131I|NHLRC3_ENST00000470258.1_Start_Codon_SNP_p.M1I	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	198						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TAGATTTCATGATCCTTTGGC	0.373													44	198					0	0	0	0	A	39618234	G	A	39618234	3	1	94	1	0	0	0	0	1	0	0	0	10477	1290	45	2	612	2	NHLRC3	13	39618234	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08		39618234	75551644	134	18434											
KLHL1	57626	broad.mit.edu	37	chr13	70456505	70456505	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacttgacccacatcatCaatgcatggaagatggtttc	12	12	7	10	0	3	2	3	1	0	1	4	3	3	3	1	2	2	2	1	2	3	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:70456505C>A	ENST00000377844.4	-	5	1896	c.1137G>T	c.(1135-1137)ttG>ttT	p.L379F	KLHL1_ENST00000545028.1_Missense_Mutation_p.L186F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	379					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCCACATCATCAATGCATGGA	0.438													26	56					1.03073e-24	1.14286e-24	1	0	A	70456505	C	A	70456505	3	1	94	1	0	0	0	0	1	0	0	0	8417	825	29	2	1137	2	KLHL1	13	70456505	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	30838271	70456505	44713373	135	18435											
RBM26	64062	broad.mit.edu	37	chr13	79894788	79894788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaacgagattcattgtcctCttcttcttcatcatcatctt	9	17	4	11	1	8	2	4	0	4	2	9	3	9	2	1	0	1	0	1	0	1	6			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:79894788C>T	ENST00000438737.2	-	22	3432	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K	RBM26_ENST00000267229.7_Missense_Mutation_p.E971K|RBM26_ENST00000438724.1_Missense_Mutation_p.E974K			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	998					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCATTGTCCTCTTCTTCTTCA	0.328													6	43					0	0	0	0	T	79894788	C	T	79894788	3	4	94	1	0	0	0	0	1	0	0	0	13208	922	32	2	35	2	RBM26	13	79894788	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	9438283	79894788	35275090	136	18436											
SLITRK6	84189	broad.mit.edu	37	chr13	86368921	86368921	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaactagtctgtgttggcaTggatgggttatttactaaac	10	15	11	5	0	1	0	0	0	1	0	1	1	1	1	0	3	3	4	0	3	6	7	rs34019808		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:86368921T>C	ENST00000400286.2	-	2	2321	c.1723A>G	c.(1723-1725)Atg>Gtg	p.M575V		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	575						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGTGTTGGCATGGATGGGTTA	0.448													18	78					0	0	0	0	C	86368921	T	C	86368921	3	2	94	1	0	0	0	0	1	0	0	0	14835	1464	51	5	806	5	SLITRK6	13	86368921	Missense_Mutation	SNP	T	TCGA-CN-6013-01A-11D-1683-08	6474133	86368921	28800957	137	18437											
ERCC5	2073	broad.mit.edu	37	chr13	103514661	103514661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctccatatcaccccggactCtttcagccattaagagagct	10	10	7	14	1	3	1	2	0	1	1	4	3	4	2	4	1	2	2	4	1	2	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:103514661C>T	ENST00000355739.4	+	8	2585	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.S813F	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCCCGGACTCTTTCAGCCAT	0.532			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				12	39					0	0	0	0	T	103514661	C	T	103514661	3	4	94	1	0	0	0	0	1	0	0	0	5254	913	32	2	1192	2	ERCC5	13	103514661	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	17145740	103514661	11655217	138	18438											
NGDN	25983	broad.mit.edu	37	chr14	23940186	23940186	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctatcctacagaaaaGgtaagatgtactcaaacagt	15	9	9	8	0	1	2	1	0	0	2	2	2	2	2	2	2	4	2	2	2	7	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:23940186G>A	ENST00000397154.3	+	3	157	c.144_splice	c.e3+1	p.K48_splice	NGDN_ENST00000408901.3_Splice_Site_p.K48_splice			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	48	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTACAGAAAAGGTAAGATGTA	0.378													13	48					0	0	0	0	A	23940186	G	A	23940186	5	1	94	1	0	0	0	0	0	0	1	0	10463	1014	35	4	154	4	NGDN	14	23940186	Splice_Site	SNP	G	TCGA-CN-6013-01A-11D-1683-08		23940186	83409354	139	18439											
PRKD1	5587	broad.mit.edu	37	chr14	30095738	30095738	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccagtacttcatcaggaaAaatctgatatactgtgctga	14	11	7	9	0	3	2	2	2	1	0	3	3	3	3	1	1	3	2	1	1	5	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:30095738A>T	ENST00000331968.5	-	12	1979	c.1750T>A	c.(1750-1752)Ttt>Att	p.F584I	PRKD1_ENST00000415220.2_Missense_Mutation_p.F592I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	584	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCATCAGGAAAAATCTGATAT	0.313													5	45					0	0	0	0	T	30095738	A	T	30095738	3	4	94	1	0	0	0	0	1	0	0	0	12598	14	1	5	1016	5	PRKD1	14	30095738	Missense_Mutation	SNP	A	TCGA-CN-6013-01A-11D-1683-08	6155552	30095738	77253802	140	18440											
MBIP	51562	broad.mit.edu	37	chr14	36780830	36780830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtagtcgttcttctacagCctgattaccacagtctcgaa	9	14	7	11	2	3	1	0	1	3	0	5	2	3	1	2	0	3	2	2	0	4	6			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:36780830C>A	ENST00000416007.4	-	6	826	c.739G>T	c.(739-741)Gct>Tct	p.A247S	MBIP_ENST00000318473.7_Missense_Mutation_p.A247S|MBIP_ENST00000359527.7_Missense_Mutation_p.A247S|MBIP_ENST00000603913.1_5'UTR	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	247	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TCTTCTACAGCCTGATTACCA	0.443													18	43					4.96729e-08	5.28647e-08	1	0	A	36780830	C	A	36780830	3	1	94	1	0	0	0	0	1	0	0	0	9418	739	26	4	311	4	MBIP	14	36780830	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	6685092	36780830	70568710	141	18441											
NID2	22795	broad.mit.edu	37	chr14	52496406	52496406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccccggagtggggtctgaatCctctgcatgagtagagggga	8	8	16	9	1	2	3	0	2	2	1	3	5	3	5	3	5	1	2	3	5	2	1	rs17853445		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:52496406C>G	ENST00000216286.5	-	10	2259	c.2260G>C	c.(2260-2262)Gat>Cat	p.D754H	NID2_ENST00000541773.1_Missense_Mutation_p.D701H	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	754	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGTCTGAATCCTCTGCATGA	0.502													4	31					0	0	0	0	G	52496406	C	G	52496406	3	3	94	1	0	0	0	0	1	0	0	0	10485	855	30	2	1919	2	NID2	14	52496406	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	15715576	52496406	54853134	142	18442											
SPTB	6710	broad.mit.edu	37	chr14	65262207	65262207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccttgcgggccgtgatgcGcttctggtcatggtagttct	3	14	14	10	3	3	1	1	1	2	0	4	1	4	1	2	3	2	3	2	3	1	4	rs144624027		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:65262207G>A	ENST00000389722.3	-	11	1545	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	SPTB_ENST00000389721.5_Missense_Mutation_p.R498C|SPTB_ENST00000389720.3_Missense_Mutation_p.R498C|SPTB_ENST00000542895.1_Missense_Mutation_p.R498C|SPTB_ENST00000556626.1_Missense_Mutation_p.R498C	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	498					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCGTGATGCGCTTCTGGTCA	0.627													16	49					0	0	0	0	A	65262207	G	A	65262207	3	1	94	1	0	0	0	0	1	0	0	0	15208	1087	38	1	5663	1	SPTB	14	65262207	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	12765801	65262207	42087333	143	18443											
PCNX	22990	broad.mit.edu	37	chr14	71540300	71540300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaagtggaggccattactGaaggtgtagaggaagatgaa	14	7	17	3	0	0	4	0	2	0	2	0	7	0	7	1	5	1	1	1	5	6	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:71540300G>A	ENST00000304743.2	+	27	5337	c.4891G>A	c.(4891-4893)Gaa>Aaa	p.E1631K	PCNX_ENST00000238570.5_Missense_Mutation_p.E1559K|PCNX_ENST00000439984.3_Missense_Mutation_p.E1520K	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1631						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCCATTACTGAAGGTGTAGA	0.448													22	62					0	0	0	0	A	71540300	G	A	71540300	3	1	94	1	0	0	0	0	1	0	0	0	11662	1291	45	2	4997	2	PCNX	14	71540300	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	6278093	71540300	35809240	144	18444											
FBLN5	10516	broad.mit.edu	37	chr14	92403316	92403316	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattggttgctttcatccatCtggtatccaaagcggcatat	9	14	8	10	1	2	0	1	0	1	0	4	0	4	0	2	3	2	4	2	3	3	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:92403316C>T	ENST00000267620.10	-	5	646	c.477G>A	c.(475-477)caG>caA	p.Q159Q	FBLN5_ENST00000342058.4_Silent_p.Q118Q|FBLN5_ENST00000556154.1_Silent_p.Q123Q			Q9UBX5	FBLN5_HUMAN	fibulin 5	118	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TTTCATCCATCTGGTATCCAA	0.552													26	81					0	0	0	0	T	92403316	C	T	92403316	2	4	94	1	0	0	0	0	0	0	0	1	5745	912	32	2		2	FBLN5	14	92403316	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	20863016	92403316	14946224	145	18445											
GANC	2595	broad.mit.edu	37	chr15	42584947	42584947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctaggctgatttcatgctCtggggacacaggcagtctga	8	12	12	9	0	4	2	1	2	3	0	4	3	4	3	0	4	1	3	0	4	1	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:42584947C>G	ENST00000318010.8	+	5	584	c.344C>G	c.(343-345)tCt>tGt	p.S115C	GANC_ENST00000566442.1_Missense_Mutation_p.S115C	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	115					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ATTTCATGCTCTGGGGACACA	0.423													16	60					0	0	0	0	G	42584947	C	G	42584947	3	3	94	1	0	0	0	0	1	0	0	0	6283	913	32	2	362	2	GANC	15	42584947	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08		42584947	59946445	146	18446											
TP53BP1	7158	broad.mit.edu	37	chr15	43766895	43766895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctcccttcttgctctgtggGactgctaggaacgataaaag	9	12	10	10	1	3	0	0	0	3	0	4	3	3	2	1	2	3	2	1	2	4	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:43766895G>A	ENST00000263801.3	-	10	1393	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	TP53BP1_ENST00000450115.2_Missense_Mutation_p.P386S|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P386S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P386S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	381					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCTCTGTGGGACTGCTAGGA	0.413								Other conserved DNA damage response genes					9	20					0	0	0	0	A	43766895	G	A	43766895	3	1	94	1	0	0	0	0	1	0	0	0	16478	1174	41	2	4853	2	TP53BP1	15	43766895	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	1181948	43766895	58764497	147	18447											
SMAD3	4088	broad.mit.edu	37	chr15	67482855	67482855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgggctccccaagcatccGctgttccagtgtgtcttaga	7	11	11	12	1	1	1	0	0	1	1	4	2	4	1	4	1	1	4	4	1	2	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:67482855G>A	ENST00000327367.4	+	9	1569	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	SMAD3_ENST00000439724.3_Missense_Mutation_p.R376H|SMAD3_ENST00000537194.2_Missense_Mutation_p.R225H|SMAD3_ENST00000540846.2_Missense_Mutation_p.R315H	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	420	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CCAAGCATCCGCTGTTCCAGT	0.547													4	14					0	0	0	0	A	67482855	G	A	67482855	3	1	94	1	0	0	0	0	1	0	0	0	14847	1087	38	1	1371	1	SMAD3	15	67482855	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	23715960	67482855	35048537	148	18448											
IQCH	64799	broad.mit.edu	37	chr15	67664726	67664726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccagatatgaccttctctCagtgttagaggacccagctc	10	11	8	12	0	2	3	1	1	1	2	4	4	2	4	3	1	2	2	3	1	3	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:67664726C>T	ENST00000335894.4	+	9	1097	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	IQCH_ENST00000546225.1_Missense_Mutation_p.S92L|IQCH_ENST00000358767.3_Missense_Mutation_p.S171L|IQCH_ENST00000360277.4_Missense_Mutation_p.S96L	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	344										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GACCTTCTCTCAGTGTTAGAG	0.443													22	56					0	0	0	0	T	67664726	C	T	67664726	3	4	94	1	0	0	0	0	1	0	0	0	7864	838	29	2	1193	2	IQCH	15	67664726	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	181871	67664726	34866666	149	18449											
PRC1	9055	broad.mit.edu	37	chr15	91527353	91527353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctttcctcttcagcaatCatcatatccaggagttccta	10	13	6	12	0	4	0	3	0	1	0	7	1	7	1	3	2	1	3	3	2	3	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:91527353C>T	ENST00000361188.5	-	3	1373	c.162G>A	c.(160-162)atG>atA	p.M54I	PRC1_ENST00000394249.3_Missense_Mutation_p.M54I|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.M54I|PRC1_ENST00000442656.2_Intron|PRC1_ENST00000556129.1_5'UTR			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	54	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTTCAGCAATCATCATATCCA	0.433													50	274					0	0	0	0	T	91527353	C	T	91527353	3	4	94	1	0	0	0	0	1	0	0	0	12526	826	29	2	1752	2	PRC1	15	91527353	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	23862627	91527353	11004039	150	18450											
MEFV	4210	broad.mit.edu	37	chr16	3304353	3304353	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctcaaggcttctaggtcGcatctttcccgagggcaggt	7	10	12	12	2	3	0	1	0	2	0	5	2	4	0	2	4	0	3	2	4	2	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:3304353G>A	ENST00000219596.1	-	2	754	c.715C>T	c.(715-717)Cga>Tga	p.R239*	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	239					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CTTCTAGGTCGCATCTTTCCC	0.612													4	119					0	0	0	0	A	3304353	G	A	3304353	4	1	94	1	0	0	0	0	0	1	0	0	9528	1095	38	1	1666	1	MEFV	16	3304353	Nonsense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08		3304353	87050400	151	18451											
MEFV	4210	broad.mit.edu	37	chr16	3304662	3304662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctggcagctccgccccCgtacggccgagggccgttcc	4	5	14	18	5	0	0	0	0	0	0	2	1	2	0	6	4	2	5	6	4	1	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:3304662C>T	ENST00000219596.1	-	2	445	c.406G>A	c.(406-408)Ggg>Agg	p.G136R	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	136					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCTCCGCCCCCGTACGGCCGA	0.701													5	31					0	0	0	0	T	3304662	C	T	3304662	3	4	94	1	0	0	0	0	1	0	0	0	9528	652	23	1	1975	1	MEFV	16	3304662	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	309	3304662	87050091	152	18452											
ERCC4	2072	broad.mit.edu	37	chr16	14041533	14041533	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatgcgtgaatttcgaagtGagcttccatctctgatccat	10	14	8	9	2	1	3	0	3	1	0	5	4	3	3	2	0	2	1	2	0	3	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:14041533G>C	ENST00000311895.7	+	11	2089	c.2080G>C	c.(2080-2082)Gag>Cag	p.E694Q		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	694	ERCC4.|Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						ATTTCGAAGTGAGCTTCCATC	0.468			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	122					0	0	0	0	C	14041533	G	C	14041533	3	2	94	1	0	0	0	0	1	0	0	0	5253	1291	45	2	2122	2	ERCC4	16	14041533	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	10736871	14041533	76313220	153	18453											
DNAH3	55567	broad.mit.edu	37	chr16	20976685	20976685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcatatgtcttaagactctCcaagaatttcagatccccaa	13	12	5	11	0	4	3	2	0	2	3	6	3	5	3	3	0	0	0	3	0	5	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:20976685C>G	ENST00000261383.3	-	53	8520	c.8521G>C	c.(8521-8523)Gag>Cag	p.E2841Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2841	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTAAGACTCTCCAAGAATTTC	0.423													4	151					0	0	0	0	G	20976685	C	G	20976685	3	3	94	1	0	0	0	0	1	0	0	0	4640	864	30	2	3868	2	DNAH3	16	20976685	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	6935152	20976685	69378068	154	18454											
DNAH3	55567	broad.mit.edu	37	chr16	21069481	21069481	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacacagataaccacctGtccaggccactgtaagaccc	13	5	9	14	0	0	3	0	0	0	3	1	4	1	3	5	2	1	1	5	2	2	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:21069481G>C	ENST00000261383.3	-	27	3849	c.3850C>G	c.(3850-3852)Cag>Gag	p.Q1284E	DNAH3_ENST00000415178.1_Missense_Mutation_p.Q1284E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1284	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATAACCACCTGTCCAGGCCAC	0.483													8	48					0	0	0	0	C	21069481	G	C	21069481	3	2	94	1	0	0	0	0	1	0	0	0	4640	1386	48	4	8643	4	DNAH3	16	21069481	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	92796	21069481	69285272	155	18455											
ZNF785	146540	broad.mit.edu	37	chr16	30594258	30594258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggcagctgtagggcttctCgcccgtgtgcttgcgctggt	2	11	17	11	3	1	0	0	0	1	0	2	0	1	0	1	4	3	6	1	4	1	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:30594258C>T	ENST00000395216.2	-	3	1000	c.841G>A	c.(841-843)Gag>Aag	p.E281K	ZNF785_ENST00000470110.1_Missense_Mutation_p.E266K|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TAGGGCTTCTCGCCCGTGTGC	0.642													5	44					0	0	0	0	T	30594258	C	T	30594258	3	4	94	1	0	0	0	0	1	0	0	0	18250	893	31	1	380	1	ZNF785	16	30594258	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	9524777	30594258	59760495	156	18456											
STX4	6810	broad.mit.edu	37	chr16	31045559	31045559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccccaggtccggacaattCggcagactattgtcaaactg	10	9	9	13	2	1	1	1	0	0	1	4	2	3	2	3	3	1	1	3	3	3	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:31045559C>T	ENST00000394998.1	+	4	482	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.R49W	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	49					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	p.R49R(1)		NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CCGGACAATTCGGCAGACTAT	0.577													34	179					0	0	0	0	T	31045559	C	T	31045559	3	4	94	1	0	0	0	0	1	0	0	0	15437	875	31	1	155	1	STX4	16	31045559	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	451301	31045559	59309194	157	18457											
CNGB1	1258	broad.mit.edu	37	chr16	57994394	57994394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctccctgtacctgggtctGaggcagcacctgtagcaact	7	9	10	15	0	1	1	0	1	1	0	2	1	2	1	4	2	4	5	4	2	3	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:57994394G>A	ENST00000251102.8	-	9	635	c.575C>T	c.(574-576)tCa>tTa	p.S192L	CNGB1_ENST00000311183.4_Missense_Mutation_p.S192L|CNGB1_ENST00000564448.1_Intron	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	192	Pro-rich.			Missing (in Ref. 4; AAC04830).	sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ACCTGGGTCTGAGGCAGCACC	0.647													3	20					0	0	0	0	A	57994394	G	A	57994394	3	1	94	1	0	0	0	0	1	0	0	0	3630	1294	45	2	3310	2	CNGB1	16	57994394	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	26948835	57994394	32360359	158	18458											
ZFHX3	463	broad.mit.edu	37	chr16	72821592	72821592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcacgccaggcagtggtacGagccgccgccgccgccgccg	5	2	15	19	9	0	0	0	0	0	0	0	1	0	0	7	2	2	3	7	2	1	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:72821592G>A	ENST00000268489.5	-	10	11255	c.10583C>T	c.(10582-10584)tCg>tTg	p.S3528L	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2614L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3528					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCAGTGGTACGAgccgccgcc	0.692													11	26					0	0	0	0	A	72821592	G	A	72821592	3	1	94	1	0	0	0	0	1	0	0	0	17729	1059	37	1	532	1	ZFHX3	16	72821592	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	14827198	72821592	17533161	159	18459											
ZFHX3	463	broad.mit.edu	37	chr16	72992974	72992974	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaactgtgtccggggcctatGaggttagctgtggaaactaa	11	10	13	7	1	0	1	0	1	0	0	1	2	1	2	2	4	3	2	2	4	5	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:72992974G>A	ENST00000268489.5	-	2	1743	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	357					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGGGCCTATGAGGTTAGCTG	0.507													24	77					0	0	0	0	A	72992974	G	A	72992974	2	1	94	1	0	0	0	0	0	0	0	1	17729	1277	45	2		2	ZFHX3	16	72992974	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	171382	72992974	17361779	160	18460											
SPG7	6687	broad.mit.edu	37	chr16	89619531	89619531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaagcactgtccttcaacGaggtcacttctggtgaggag	9	9	13	10	2	3	1	2	1	1	0	4	4	4	3	1	4	2	1	1	4	2	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:89619531G>A	ENST00000268704.2	+	14	1939	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	642					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GTCCTTCAACGAGGTCACTTC	0.602													3	10					0	0	0	0	A	89619531	G	A	89619531	3	1	94	1	0	0	0	0	1	0	0	0	15134	1059	37	1	2128	1	SPG7	16	89619531	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	16626557	89619531	735222	161	18461											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	29					0	0	0	0	A	7577094	G	A	7577094	3	1	94	1	0	0	0	0	1	0	0	0	16476	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08		7577094	73618116	162	18462											
KRBA2	124751	broad.mit.edu	37	chr17	8285520	8285520	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgtacttctgtctcagctCtttggaaagaggggaagaca	10	12	12	7	0	3	2	1	0	3	2	4	4	3	4	0	3	2	3	0	3	3	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:8285520C>G	ENST00000582471.1	-	2	159	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	RPL26_ENST00000584164.1_Missense_Mutation_p.E37Q|RPL26_ENST00000583011.1_Missense_Mutation_p.E37Q|RPL26_ENST00000582556.1_Missense_Mutation_p.E37Q|RPL26_ENST00000585176.1_Intron|RPL26_ENST00000578812.1_Missense_Mutation_p.E37Q|RPL26_ENST00000293842.5_Missense_Mutation_p.E37Q																							TGTCTCAGCTCTTTGGAAAGA	0.448													9	48					0	0	0	0	G	8285520	C	G	8285520	3	3	94	1	0	0	0	0	1	0	0	0	8492	922	32	2		2	KRBA2	17	8285520	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	708426	8285520	72909690	163	18463											
MYH10	4628	broad.mit.edu	37	chr17	8387530	8387530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggattgagcaaaaatctCatctctggatgcacgagctt	11	13	9	8	1	2	1	1	1	2	0	4	4	2	3	0	2	3	3	0	2	2	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:8387530C>T	ENST00000360416.3	-	37	5239	c.5101G>A	c.(5101-5103)Gag>Aag	p.E1701K	MYH10_ENST00000379980.4_Missense_Mutation_p.E1686K|MYH10_ENST00000269243.4_Missense_Mutation_p.E1670K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1691K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1670					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GCAAAAATCTCATCTCTGGAT	0.373													11	71					0	0	0	0	T	8387530	C	T	8387530	3	4	94	1	0	0	0	0	1	0	0	0	10100	835	29	2	950	2	MYH10	17	8387530	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	102010	8387530	72807680	164	18464											
PIK3R5	23533	broad.mit.edu	37	chr17	8792140	8792140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctcctcctcttcctcctCttcatcatctcccaggatcc	4	14	2	21	0	5	0	2	0	3	0	12	1	11	1	7	1	0	0	7	1	0	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:8792140C>T	ENST00000447110.1	-	10	1088	c.964G>A	c.(964-966)Gag>Aag	p.E322K	PIK3R5_ENST00000584803.1_Missense_Mutation_p.E322K|PIK3R5_ENST00000581552.1_Missense_Mutation_p.E322K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	322				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						tcttcctcctcttcATCATCT	0.587													3	25					0	0	0	0	T	8792140	C	T	8792140	3	4	94	1	0	0	0	0	1	0	0	0	11994	922	32	2	1718	2	PIK3R5	17	8792140	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	404610	8792140	72403070	165	18465											
MYH1	4619	broad.mit.edu	37	chr17	10408181	10408181	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcatcagagtaaccattttTtcttccagctctttcctttt	7	19	4	11	0	3	1	1	0	2	1	5	1	5	1	3	0	3	3	3	0	1	8			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:10408181T>G	ENST00000226207.5	-	22	2731	c.2637A>C	c.(2635-2637)gaA>gaC	p.E879D	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	879						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TAACCATTTTTTCTTCCAGCT	0.423													13	54					0	0	0	0	G	10408181	T	G	10408181	3	3	94	1	0	0	0	0	1	0	0	0	10099	1838	64	5	3258	5	MYH1	17	10408181	Missense_Mutation	SNP	T	TCGA-CN-6013-01A-11D-1683-08	1616041	10408181	70787029	166	18466											
ZNF287	57336	broad.mit.edu	37	chr17	16456726	16456726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggagtacatgcttgggCtttagtttcccattctgaaa	9	14	9	9	0	1	1	0	1	1	0	2	2	2	2	1	2	2	4	1	2	3	6			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:16456726C>A	ENST00000395824.1	-	6	1347	c.730G>T	c.(730-732)Gcc>Tcc	p.A244S	ZNF287_ENST00000395825.3_Missense_Mutation_p.A244S			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	237					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CATGCTTGGGCTTTAGTTTCC	0.313													21	61					3.62473e-10	3.90469e-10	1	0	A	16456726	C	A	16456726	3	1	94	1	0	0	0	0	1	0	0	0	17920	797	28	4	1559	4	ZNF287	17	16456726	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	6048545	16456726	64738484	167	18467											
FLII	2314	broad.mit.edu	37	chr17	18155348	18155348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacggtagcaggagaggcaCccgctagccgcagctggttc	8	5	14	14	3	0	1	0	0	0	1	1	2	0	1	3	4	3	7	3	4	2	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:18155348C>A	ENST00000327031.4	-	11	1436	c.1211G>T	c.(1210-1212)gGt>gTt	p.G404V	FLII_ENST00000379450.4_Missense_Mutation_p.G319V|FLII_ENST00000579294.1_Missense_Mutation_p.G393V|FLII_ENST00000578558.1_Missense_Mutation_p.G404V|FLII_ENST00000545457.2_Missense_Mutation_p.G350V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	404	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					AGGAGAGGCACCCGCTAGCCG	0.637													11	57					5.03518e-11	5.46854e-11	1	0	A	18155348	C	A	18155348	3	1	94	1	0	0	0	0	1	0	0	0	5970	507	18	4	2678	4	FLII	17	18155348	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	1698622	18155348	63039862	168	18468											
SLC6A4	6532	broad.mit.edu	37	chr17	28548952	28548952	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacgctgatagctgcttctGagaattcaagggcgtcgtct	9	11	11	10	3	3	2	1	2	2	1	4	3	3	2	0	1	2	3	0	1	3	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:28548952G>C	ENST00000401766.2	-	2	537	c.25C>G	c.(25-27)Cag>Gag	p.Q9E	SLC6A4_ENST00000261707.3_Missense_Mutation_p.Q9E			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	9					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AGCTGCTTCTGAGAATTCAAG	0.502													15	41					0	0	0	0	C	28548952	G	C	28548952	3	2	94	1	0	0	0	0	1	0	0	0	14774	1299	45	2	1919	2	SLC6A4	17	28548952	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	10393604	28548952	52646258	169	18469											
ACACA	31	broad.mit.edu	37	chr17	35614787	35614787	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcctgagctgggcttaaaaCcctgttagagaataaagaat	14	11	9	7	0	0	3	0	1	0	2	1	4	1	3	2	1	2	3	2	1	7	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:35614787C>T	ENST00000353139.5	-	14	2145	c.1662_splice	c.e14-1	p.G555_splice	ACACA_ENST00000394406.2_Splice_Site_p.G518_splice|ACACA_ENST00000360679.3_Splice_Site_p.G460_splice|ACACA_ENST00000335166.5_Splice_Site_p.G440_splice	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	518	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGGCTTAAAACCCTGTTAGAG	0.388													16	53					0	0	0	0	T	35614787	C	T	35614787	5	4	94	1	0	0	0	0	0	0	1	0	106	521	18	4	5659	4	ACACA	17	35614787	Splice_Site	SNP	C	TCGA-CN-6013-01A-11D-1683-08	7065835	35614787	45580423	170	18470											
BZRAP1	9256	broad.mit.edu	37	chr17	56382487	56382487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcctcaggcccagggccctCcaggaagttggatggaacca	9	6	13	13	0	1	0	1	0	0	0	2	3	2	3	5	5	2	1	5	5	2	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:56382487C>T	ENST00000355701.3	-	30	6349	c.5479G>A	c.(5479-5481)Gag>Aag	p.E1827K	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1767K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1827K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1827	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGGGCCCTCCAGGAAGTTG	0.637													8	38					0	0	0	0	T	56382487	C	T	56382487	3	4	94	1	0	0	0	0	1	0	0	0	1586	864	30	2	102	2	BZRAP1	17	56382487	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	20767700	56382487	24812723	171	18471											
CBX2	84733	broad.mit.edu	37	chr17	77758352	77758352	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcatgcccggggtgggtctCcttgcccgccacgccaccgc	3	6	14	18	4	1	0	0	0	1	0	2	0	1	0	6	4	2	1	6	4	0	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:77758352C>T	ENST00000310942.4	+	5	1214	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	370					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGGTGGGTCTCCTTGCCCGCC	0.697													4	27					0	0	0	0	T	77758352	C	T	77758352	2	4	94	1	0	0	0	0	0	0	0	1	2743	842	30	2		2	CBX2	17	77758352	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	21375865	77758352	3436858	172	18472											
THOC1	9984	broad.mit.edu	37	chr18	214778	214778	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagctctcatcttcatgtCttcactgtcacactcaatct	8	16	3	14	0	8	0	5	0	4	0	9	0	8	0	0	0	1	1	0	0	2	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:214778C>A	ENST00000261600.6	-	21	1829	c.1822G>T	c.(1822-1824)Gac>Tac	p.D608Y		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	608	Death.				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ATCTTCATGTCTTCACTGTCA	0.448													14	62					1.3612e-06	1.44288e-06	1	0	A	214778	C	A	214778	3	1	94	1	0	0	0	0	1	0	0	0	15958	913	32	2	155	2	THOC1	18	214778	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08		214778	77862470	173	18473											
LPIN2	9663	broad.mit.edu	37	chr18	2931287	2931287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattttcactgaggccccCgcaaagggagagggtaacgt	10	8	12	11	2	1	2	1	1	0	1	2	3	2	2	3	3	1	2	3	3	2	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:2931287C>T	ENST00000261596.4	-	9	1661	c.1423G>A	c.(1423-1425)Ggg>Agg	p.G475R		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	475					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTGAGGCCCCCGCAAAGGGAG	0.522													7	24					0	0	0	0	T	2931287	C	T	2931287	3	4	94	1	0	0	0	0	1	0	0	0	8983	652	23	1	1315	1	LPIN2	18	2931287	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	2716509	2931287	75145961	174	18474											
CXXC1	30827	broad.mit.edu	37	chr18	47810778	47810778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttcatgccacagtcatctGagcaatacttggagctgggc	9	10	11	11	0	3	1	2	1	1	0	3	2	3	2	1	2	4	3	1	2	2	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:47810778G>A	ENST00000285106.6	-	9	1889	c.1175C>T	c.(1174-1176)tCa>tTa	p.S392L	CXXC1_ENST00000589940.1_Missense_Mutation_p.S392L|CXXC1_ENST00000412036.2_Missense_Mutation_p.S396L	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	392					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACAGTCATCTGAGCAATACTT	0.602													14	65					0	0	0	0	A	47810778	G	A	47810778	3	1	94	1	0	0	0	0	1	0	0	0	4129	1294	45	2	823	2	CXXC1	18	47810778	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	44879491	47810778	30266470	175	18475											
WDR7	23335	broad.mit.edu	37	chr18	54547249	54547249	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacggaagcaagctaccgctAttgttttacttggagtaata	12	12	10	7	2	0	0	0	0	0	0	0	3	0	2	1	2	4	5	1	2	7	8			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:54547249A>G	ENST00000254442.3	+	21	3590	c.3379A>G	c.(3379-3381)Att>Gtt	p.I1127V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.I1094V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1127										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGCTACCGCTATTGTTTTACT	0.398													13	46					0	0	0	0	G	54547249	A	G	54547249	3	3	94	1	0	0	0	0	1	0	0	0	17416	449	16	5	3457	5	WDR7	18	54547249	Missense_Mutation	SNP	A	TCGA-CN-6013-01A-11D-1683-08	6736471	54547249	23529999	176	18476											
FUT5	2527	broad.mit.edu	37	chr19	5866613	5866613	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggccccatgccggcctctCaggtgaaccaagccgctatg	8	6	11	16	2	1	1	1	1	1	0	2	1	1	1	6	3	3	1	6	3	3	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:5866613C>T	ENST00000252675.5	-	5	1686	c.1124G>A	c.(1123-1125)tGa>tAa	p.*375*	FUT5_ENST00000588525.1_Silent_p.*375*			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	0					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GCCGGCCTCTCAGGTGAACCA	0.632													17	85					0	0	0	0	T	5866613	C	T	5866613	2	4	94	1	0	0	0	0	0	0	0	1	6155	837	29	2		2	FUT5	19	5866613	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08		5866613	53262370	177	18477											
ZNF557	79230	broad.mit.edu	37	chr19	7076392	7076392	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatgtttgcaatgctttagGgcttggtgacctttgaggat	7	16	13	5	0	0	3	0	3	0	0	0	4	0	4	1	3	2	4	1	3	2	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:7076392G>A	ENST00000414706.1	+	5	594	c.120_splice	c.e5-1	p.G41_splice	ZNF557_ENST00000439035.2_Splice_Site_p.G34_splice|ZNF557_ENST00000252840.6_Splice_Site_p.G41_splice	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		AATGCTTTAGGGCTTGGTGAC	0.582													13	64					0	0	0	0	A	7076392	G	A	7076392	5	1	94	1	0	0	0	0	0	0	1	0	18083	1246	43	4	131	4	ZNF557	19	7076392	Splice_Site	SNP	G	TCGA-CN-6013-01A-11D-1683-08	1209779	7076392	52052591	178	18478											
LPHN1	22859	broad.mit.edu	37	chr19	14288437	14288437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttgtcgtccgtgcgccCgtagttggcattctccacca	6	12	9	14	4	2	0	0	0	2	0	5	0	3	0	4	1	1	3	4	1	2	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:14288437C>T	ENST00000340736.6	-	3	487	c.190G>A	c.(190-192)Ggg>Agg	p.G64R	LPHN1_ENST00000361434.3_Missense_Mutation_p.G64R	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	64	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCGTGCGCCCGTAGTTGGCA	0.607													22	83					0	0	0	0	T	14288437	C	T	14288437	3	4	94	1	0	0	0	0	1	0	0	0	8979	652	23	1	4322	1	LPHN1	19	14288437	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	7212045	14288437	44840546	179	18479											
ZNF333	84449	broad.mit.edu	37	chr19	14829870	14829870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagtgagccctcatccctCaggaaacatgcaaggactca	12	8	8	13	0	4	1	4	1	0	0	5	3	5	3	2	2	3	1	2	2	2	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:14829870C>T	ENST00000292530.6	+	12	1822	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Silent_p.L468L	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CCTCATCCCTCAGGAAACATG	0.522													8	35					0	0	0	0	T	14829870	C	T	14829870	2	4	94	1	0	0	0	0	0	0	0	1	17945	813	29	2		2	ZNF333	19	14829870	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	541433	14829870	44299113	180	18480											
ZNF91	7644	broad.mit.edu	37	chr19	23545292	23545292	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgaatttaaaaatttataGaagactttcaaatatttccc	16	17	3	5	0	1	3	1	1	0	2	2	3	2	3	1	0	0	0	1	0	9	9			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:23545292G>A	ENST00000300619.7	-	4	694	c.489C>T	c.(487-489)ttC>ttT	p.F163F	ZNF91_ENST00000397082.2_Silent_p.F131F|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	163						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AAAATTTATAGAAGACTTTCA	0.323													15	38					0	0	0	0	A	23545292	G	A	23545292	2	1	94	1	0	0	0	0	0	0	0	1	18293	933	33	2		2	ZNF91	19	23545292	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	8715422	23545292	35583691	181	18481											
ZNF527	84503	broad.mit.edu	37	chr19	37879380	37879380	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctacatcagggaaatgcGgagaggcatttcatgcaagt	13	8	13	7	1	2	1	2	0	0	1	2	4	2	2	0	3	4	3	0	3	3	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:37879380G>A	ENST00000436120.2	+	5	536	c.429G>A	c.(427-429)gcG>gcA	p.A143A	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGGAAATGCGGAGAGGCATT	0.428													18	40					0	0	0	0	A	37879380	G	A	37879380	2	1	94	1	0	0	0	0	0	0	0	1	18063	1103	39	1		1	ZNF527	19	37879380	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	14334088	37879380	21249603	182	18482											
ZFP36	7538	broad.mit.edu	37	chr19	39898933	39898933	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcttctccggcctgccctCtggccgccggacctcaccac	4	7	9	21	3	3	0	1	0	2	0	4	1	3	1	7	3	2	1	7	3	0	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:39898933C>G	ENST00000597629.1	+	2	667	c.593C>G	c.(592-594)tCt>tGt	p.S198C	ZFP36_ENST00000248673.3_Missense_Mutation_p.S192C			P26651	TTP_HUMAN	ZFP36 ring finger protein	192					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCTGCCCTCTGGCCGCCGG	0.692													33	103					0	0	0	0	G	39898933	C	G	39898933	3	3	94	1	0	0	0	0	1	0	0	0	17740	913	32	2	581	2	ZFP36	19	39898933	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	2019553	39898933	19230050	183	18483											
ADCK4	79934	broad.mit.edu	37	chr19	41209472	41209472	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggccgcgctcatcttgAgtaccgccagcaggttctgg	6	8	14	13	3	3	1	1	1	2	0	3	1	3	1	3	3	2	5	3	3	1	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:41209472A>C	ENST00000324464.3	-	9	1074	c.773T>G	c.(772-774)cTc>cGc	p.L258R	ADCK4_ENST00000243583.6_Missense_Mutation_p.L217R|ADCK4_ENST00000450541.1_Missense_Mutation_p.L217R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	258	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCTCATCTTGAGTACCGCCAG	0.622													9	24					0	0	0	0	C	41209472	A	C	41209472	3	2	94	1	0	0	0	0	1	0	0	0	290	304	11	5	889	5	ADCK4	19	41209472	Missense_Mutation	SNP	A	TCGA-CN-6013-01A-11D-1683-08	1310539	41209472	17919511	184	18484											
NLRP13	126204	broad.mit.edu	37	chr19	56436023	56436023	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catccctgggtctgcatattCcctgaaataaacattgacga	12	11	7	11	1	1	2	0	2	1	0	3	3	3	2	2	1	2	1	2	1	4	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:56436023C>T	ENST00000588751.1	-	3	414	c.388_splice	c.e3-1	p.G130_splice	NLRP13_ENST00000342929.3_Splice_Site_p.G130_splice			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	130							ATP binding	p.G130G(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTGCATATTCCCTGAAATAA	0.418													10	41					0	0	0	0	T	56436023	C	T	56436023	5	4	94	1	0	0	0	0	0	0	1	0	10545	869	30	2	2775	2	NLRP13	19	56436023	Splice_Site	SNP	C	TCGA-CN-6013-01A-11D-1683-08	15226551	56436023	2692960	185	18485											
ZNF549	256051	broad.mit.edu	37	chr19	58046527	58046527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagggccatgtgacctttGaggatattgctgtgtacttc	7	14	12	8	0	0	2	0	2	0	0	1	3	0	3	2	2	3	3	2	2	2	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:58046527G>A	ENST00000602149.1	+	3	236	c.88G>A	c.(88-90)Gag>Aag	p.E30K	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000376233.3_Missense_Mutation_p.E30K|ZNF549_ENST00000240719.3_Missense_Mutation_p.E17K			Q6P9A3	ZN549_HUMAN	zinc finger protein 549	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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;0.026)		TGTGACCTTTGAGGATATTGC	0.502													10	45					0	0	0	0	A	58046527	G	A	58046527	3	1	94	1	0	0	0	0	1	0	0	0	18076	1291	45	2	55	2	ZNF549	19	58046527	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	1610504	58046527	1082456	186	18486											
TGM3	7053	broad.mit.edu	37	chr20	2293573	2293573	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacattctcagcatctgcctCtcaatcttggataggagtct	9	13	8	11	0	5	0	2	0	5	0	7	3	5	2	1	2	2	1	1	2	2	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:2293573C>T	ENST00000381458.5	+	5	633	c.570C>T	c.(568-570)ctC>ctT	p.L190L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	190					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCATCTGCCTCTCAATCTTGG	0.478													9	193					0	0	0	0	T	2293573	C	T	2293573	2	4	94	1	0	0	0	0	0	0	0	1	15925	900	32	2		2	TGM3	20	2293573	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08		2293573	60731947	187	18487											
JAG1	182	broad.mit.edu	37	chr20	10620404	10620404	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataatccttgatggggacCgtgttggccccatgtttctc	6	14	10	11	1	2	1	1	1	1	0	4	2	3	2	4	3	0	2	4	3	1	4			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:10620404C>T	ENST00000254958.5	-	26	3914	c.3399G>A	c.(3397-3399)acG>acA	p.T1133T	JAG1_ENST00000423891.2_Silent_p.T974T	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1133					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGATGGGGACCGTGTTGGCCC	0.483									Alagille Syndrome				29	50					0	0	0	0	T	10620404	C	T	10620404	2	4	94	1	0	0	0	0	0	0	0	1	7987	639	23	1		1	JAG1	20	10620404	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	8326831	10620404	52405116	188	18488											
PCSK2	5126	broad.mit.edu	37	chr20	17462559	17462559	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagggggtgctgaaggagtgGaccctgatgctgcatggcac	9	7	17	8	0	0	2	0	2	0	0	0	4	0	4	1	5	3	4	1	5	2	0			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:17462559G>A	ENST00000262545.2	+	12	2076	c.1761G>A	c.(1759-1761)tgG>tgA	p.W587*	PCSK2_ENST00000377899.1_Nonsense_Mutation_p.W568*|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Nonsense_Mutation_p.W552*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	587					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGAAGGAGTGGACCCTGATGC	0.622													4	32					0	0	0	0	A	17462559	G	A	17462559	4	1	94	1	0	0	0	0	0	1	0	0	11672	1183	41	2	1807	2	PCSK2	20	17462559	Nonsense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	6842155	17462559	45562961	189	18489											
CEP250	11190	broad.mit.edu	37	chr20	34067178	34067178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctagtacgagagaaagcGgctctagaggtgcggctgca	10	6	15	10	3	1	2	0	0	1	2	1	4	1	2	1	3	4	4	1	3	4	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:34067178G>A	ENST00000397527.1	+	18	2937	c.2217G>A	c.(2215-2217)gcG>gcA	p.A739A	CEP250_ENST00000342580.4_Silent_p.A739A|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	739	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	p.A739A(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGAGAAAGCGGCTCTAGAGG	0.612													5	150					0	0	0	0	A	34067178	G	A	34067178	2	1	94	1	0	0	0	0	0	0	0	1	3281	1103	39	1		1	CEP250	20	34067178	Silent	SNP	G	TCGA-CN-6013-01A-11D-1683-08	16604619	34067178	28958342	190	18490											
SGK2	10110	broad.mit.edu	37	chr20	42199697	42199697	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagaacattctcttggactgCcaggttggtgtgtgtgtgtg	6	14	15	6	0	1	1	0	0	1	1	2	3	1	2	1	3	2	1	1	3	1	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:42199697C>A	ENST00000373100.1	+	9	967	c.507C>A	c.(505-507)tgC>tgA	p.C169*	SGK2_ENST00000426287.1_Nonsense_Mutation_p.C195*|SGK2_ENST00000341458.4_Nonsense_Mutation_p.C229*|SGK2_ENST00000423407.3_Nonsense_Mutation_p.C169*|SGK2_ENST00000373092.3_Nonsense_Mutation_p.C169*|SGK2_ENST00000373077.1_Nonsense_Mutation_p.C168*			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	229	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTTGGACTGCCAGGTTGgtg	0.478													11	55					0.010729	0.0111937	1	0	A	42199697	C	A	42199697	4	1	94	1	0	0	0	0	0	1	0	0	14296	747	26	4	713	4	SGK2	20	42199697	Nonsense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	8132519	42199697	20825823	191	18491											
SLC12A5	57468	broad.mit.edu	37	chr20	44663637	44663637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcaacagcaccgacacaGagaagggaaaggagtatgat	17	5	11	8	1	2	2	2	1	0	1	2	6	2	4	1	2	2	2	1	2	4	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:44663637G>A	ENST00000454036.1	+	2	248	c.172G>A	c.(172-174)Gag>Aag	p.E58K	SLC12A5_ENST00000372315.1_Missense_Mutation_p.E35K|SLC12A5_ENST00000243964.3_Missense_Mutation_p.E35K|SLC12A5_ENST00000539566.1_Missense_Mutation_p.E35K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	58					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACCGACACAGAGAAGGGAAA	0.517													13	74					0	0	0	0	A	44663637	G	A	44663637	3	1	94	1	0	0	0	0	1	0	0	0	14474	943	33	2	234	2	SLC12A5	20	44663637	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	2463940	44663637	18361883	192	18492											
DNAJC5	80331	broad.mit.edu	37	chr20	62562255	62562255	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgctactgctgctgctgtCtgtgctgctgcttcaactgc	3	14	11	13	0	2	0	1	0	1	0	2	0	2	0	0	0	10	8	0	0	2	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:62562255C>T	ENST00000360864.4	+	4	526	c.373C>T	c.(373-375)Ctg>Ttg	p.L125L	DNAJC5_ENST00000369911.2_Silent_p.L125L	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	125	Poly-Cys.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ctgctgctgtctgtgctgctg	0.622													5	68					0	0	0	0	T	62562255	C	T	62562255	2	4	94	1	0	0	0	0	0	0	0	1	4686	912	32	2		2	DNAJC5	20	62562255	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	17898618	62562255	463265	193	18493											
NCAM2	4685	broad.mit.edu	37	chr21	22881273	22881273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtcagctgcttctttattCggcaatgtgggttgctgatg	6	15	12	8	2	2	1	1	1	1	0	3	1	2	1	0	2	3	5	0	2	2	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:22881273C>T	ENST00000400546.1	+	16	2428	c.2179C>T	c.(2179-2181)Cgg>Tgg	p.R727W	NCAM2_ENST00000284894.7_Missense_Mutation_p.R585W	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	727					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTTCTTTATTCGGCAATGTGG	0.468													13	42					0	0	0	0	T	22881273	C	T	22881273	3	4	94	1	0	0	0	0	1	0	0	0	10273	875	31	1	2241	1	NCAM2	21	22881273	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08		22881273	25248622	194	18494											
DSCAM	1826	broad.mit.edu	37	chr21	41414523	41414523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgctcttccatcttggCgtgttcgtaggccctggcca	4	13	11	13	2	2	0	0	0	2	0	4	0	3	0	3	3	1	4	3	3	1	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:41414523C>T	ENST00000400454.1	-	32	5938	c.5461G>A	c.(5461-5463)Gcc>Acc	p.A1821T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1821					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCATCTTGGCGTGTTCGTAG	0.517													13	50					0	0	0	0	T	41414523	C	T	41414523	3	4	94	1	0	0	0	0	1	0	0	0	4804	768	27	1	585	1	DSCAM	21	41414523	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	18533250	41414523	6715372	195	18495											
MX1	4599	broad.mit.edu	37	chr21	42817972	42817972	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcactgctctcatgcaaggaGaggaaactgtaggggaggaa	13	7	14	7	0	2	1	2	0	1	1	3	5	2	4	0	5	3	3	0	5	4	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:42817972G>C	ENST00000398600.2	+	15	2202	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	MX1_ENST00000398598.3_Missense_Mutation_p.E393Q|MX1_ENST00000455164.2_Missense_Mutation_p.E393Q|MX1_ENST00000288383.6_Missense_Mutation_p.E370Q	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	393					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CATGCAAGGAGAGGAAACTGT	0.398													8	33					0	0	0	0	C	42817972	G	C	42817972	3	2	94	1	0	0	0	0	1	0	0	0	10067	943	33	2	1211	2	MX1	21	42817972	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	1403449	42817972	5311923	196	18496											
COL6A1	1291	broad.mit.edu	37	chr21	47404200	47404200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtactaccgctgtgaccGaaacctggtgtggaacgcag	10	7	13	11	3	0	1	0	1	0	0	0	3	0	2	3	3	4	3	3	3	4	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:47404200G>A	ENST00000361866.3	+	3	359	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	82	N-terminal globular domain.|VWFA 1.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CGCTGTGACCGAAACCTGGTG	0.682													4	4					0	0	0	0	A	47404200	G	A	47404200	3	1	94	1	0	0	0	0	1	0	0	0	3729	1058	37	1	255	1	COL6A1	21	47404200	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	4586228	47404200	725695	197	18497											
OSBP2	23762	broad.mit.edu	37	chr22	31266528	31266528	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagcacgtgcaatgacctCatcgccaagcacggcgctgc	9	6	10	16	4	2	1	2	1	0	0	3	1	2	1	2	1	4	4	2	1	2	0			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:31266528C>T	ENST00000332585.6	+	3	1070	c.966C>T	c.(964-966)ctC>ctT	p.L322L	OSBP2_ENST00000407373.1_Silent_p.L149L|OSBP2_ENST00000403222.3_Silent_p.L157L|OSBP2_ENST00000437268.2_Silent_p.L64L|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000446658.2_Silent_p.L322L|OSBP2_ENST00000382310.3_Silent_p.L322L	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	322					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCAATGACCTCATCGCCAAGC	0.587													6	22					0	0	0	0	T	31266528	C	T	31266528	2	4	94	1	0	0	0	0	0	0	0	1	11345	813	29	2		2	OSBP2	22	31266528	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08		31266528	20038038	198	18498											
MYH9	4627	broad.mit.edu	37	chr22	36702049	36702049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggatgccctcgagaacacCgttgcagcgcagctggtcca	9	6	12	14	4	0	1	0	0	0	1	2	3	1	2	3	2	5	4	3	2	1	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:36702049C>T	ENST00000216181.5	-	17	2316	c.2086G>A	c.(2086-2088)Ggt>Agt	p.G696S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	696	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCGAGAACACCGTTGCAGCGC	0.627			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				18	55					0	0	0	0	T	36702049	C	T	36702049	3	4	94	1	0	0	0	0	1	0	0	0	10112	652	23	1	3896	1	MYH9	22	36702049	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	5435521	36702049	14602517	199	18499											
IL2RB	3560	broad.mit.edu	37	chr22	37539602	37539602	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttggcaggaagtgtcctgCagagccccatcttggctcca	8	9	11	13	0	1	1	0	0	1	1	3	2	3	2	4	3	2	3	4	3	1	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:37539602C>T	ENST00000216223.5	-	3	360	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	54					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AAGTGTCCTGCAGAGCCCCAT	0.562													15	41					0	0	0	0	T	37539602	C	T	37539602	2	4	94	1	0	0	0	0	0	0	0	1	7740	697	25	4		4	IL2RB	22	37539602	Silent	SNP	C	TCGA-CN-6013-01A-11D-1683-08	837553	37539602	13764964	200	18500											
IL2RB	3560	broad.mit.edu	37	chr22	37539642	37539642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacacaggagatgttggctCtcgagttgtagaagcatgtg	11	10	14	6	1	1	3	0	0	1	3	2	5	1	3	0	2	1	5	0	2	2	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:37539642C>G	ENST00000216223.5	-	3	320	c.122G>C	c.(121-123)aGa>aCa	p.R41T		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	41					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GATGTTGGCTCTCGAGTTGTA	0.602													14	56					0	0	0	0	G	37539642	C	G	37539642	3	3	94	1	0	0	0	0	1	0	0	0	7740	913	32	2	1565	2	IL2RB	22	37539642	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	40	37539642	13764924	201	18501											
SUN2	25777	broad.mit.edu	37	chr22	39138356	39138356	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctccttcagggcagcttCacggcggctcactagcccct	6	9	9	17	2	3	0	3	0	0	0	5	0	5	0	4	3	2	3	4	3	1	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:39138356C>A	ENST00000405510.1	-	10	1376	c.1018G>T	c.(1018-1020)Gaa>Taa	p.E340*	SUN2_ENST00000406622.1_Nonsense_Mutation_p.E340*|SUN2_ENST00000216064.4_Nonsense_Mutation_p.E340*|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Nonsense_Mutation_p.E329*|SUN2_ENST00000405018.1_Nonsense_Mutation_p.E361*	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	340					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						AGGGCAGCTTCACGGCGGCTC	0.642													5	36					0.000157383	0.000166162	1	0	A	39138356	C	A	39138356	4	1	94	1	0	0	0	0	0	1	0	0	15482	835	29	2	1175	2	SUN2	22	39138356	Nonsense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	1598714	39138356	12166210	202	18502											
FAM19A5	25817	broad.mit.edu	37	chr22	49103655	49103655	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaggataaagaccaccaCggtatgtggccctcggcttt	9	8	13	11	3	0	1	0	0	0	1	1	3	0	3	3	5	0	2	3	5	3	3			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:49103655C>T	ENST00000358295.5	+	3	543	c.369_splice	c.e3+1	p.T123_splice	FAM19A5_ENST00000406880.1_Splice_Site_p.T51_splice|FAM19A5_ENST00000402357.1_Splice_Site_p.T130_splice|FAM19A5_ENST00000473898.1_3'UTR	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	130						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		AAGACCACCACGGTATGTGGC	0.657													55	71					0	0	0	0	T	49103655	C	T	49103655	5	4	94	1	0	0	0	0	0	0	1	0	5578	550	19	1	494	1	FAM19A5	22	49103655	Splice_Site	SNP	C	TCGA-CN-6013-01A-11D-1683-08	9965299	49103655	2200911	203	18503											
SHANK3	85358	broad.mit.edu	37	chr22	51160628	51160628	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcctctgccgggctggcctCtgccgccgggcctgcccgcc	0	6	14	21	5	2	0	0	0	2	0	2	0	2	0	8	3	3	1	8	3	0	0			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:51160628C>G	ENST00000414786.2	+	21	4552	c.4325C>G	c.(4324-4326)tCt>tGt	p.S1442C	SHANK3_ENST00000262795.3_Missense_Mutation_p.S1472C|SHANK3_ENST00000445220.2_Missense_Mutation_p.S1458C			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1472								p.S1472C(1)|p.S565C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGCTGGCCTCTGCCGCCGGG	0.711													4	21					0	0	0	0	G	51160628	C	G	51160628	3	3	94	1	0	0	0	0	1	0	0	0	14354	913	32	2	4501	2	SHANK3	22	51160628	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	2056973	51160628	143938	204	18504											
PTCHD1	139411	broad.mit.edu	37	chrX	23412249	23412249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaggaaattgagtgtgtaGaaatggtagatatcgatagt	14	11	15	1	1	0	3	0	1	0	2	1	6	0	5	0	3	0	2	0	3	6	5			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:23412249G>A	ENST00000379361.4	+	3	3474	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	872					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGAGTGTGTAGAAATGGTAGA	0.398													37	27					0	0	0	0	A	23412249	G	A	23412249	3	1	94	1	0	0	0	0	1	0	0	0	12811	943	33	2	2624	2	PTCHD1	23	23412249	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08		23412249	131858311	205	18505											
PCDH11X	27328	broad.mit.edu	37	chrX	91873419	91873419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctctatgccacagccCaccactgtcacaggcctcta	8	9	6	18	0	4	0	1	0	3	0	4	0	4	0	4	1	3	1	4	1	2	2			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:91873419C>T	ENST00000373094.1	+	7	4369	c.3524C>T	c.(3523-3525)cCa>cTa	p.P1175L	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1165L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1167L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1138L|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1138L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1157L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1175					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCCACAGCCCACCACTGTCA	0.567													16	43					0	0	0	0	T	91873419	C	T	91873419	3	4	94	1	0	0	0	0	1	0	0	0	11579	594	21	4	3672	4	PCDH11X	23	91873419	Missense_Mutation	SNP	C	TCGA-CN-6013-01A-11D-1683-08	68461170	91873419	63397141	206	18506											
COL4A5	1287	broad.mit.edu	37	chrX	107834353	107834353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggggtcagaaaggtgatGaaggaccacctggaatttcc	14	7	13	7	0	1	3	1	2	0	1	2	5	2	5	3	5	0	0	3	5	4	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:107834353G>A	ENST00000328300.6	+	20	1475	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	COL4A5_ENST00000361603.2_Missense_Mutation_p.E411K	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	411	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAAAGGTGATGAAGGACCACC	0.547									Alport syndrome with Diffuse Leiomyomatosis				30	61					0	0	0	0	A	107834353	G	A	107834353	3	1	94	1	0	0	0	0	1	0	0	0	3724	1291	45	2	1309	2	COL4A5	23	107834353	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	15960934	107834353	47436207	207	18507											
ZIC3	7547	broad.mit.edu	37	chrX	136652134	136652134	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacccgctatagcttctgcaAacagtaaagataccactaaa	16	8	5	12	1	1	1	0	0	1	1	1	1	1	1	2	0	4	4	2	0	8	6			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:136652134A>C	ENST00000287538.5	+	3	1859	c.1309A>C	c.(1309-1311)Aac>Cac	p.N437H	ZIC3_ENST00000370606.3_Intron|ZIC3_ENST00000478471.1_3'UTR	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	437					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGCTTCTGCAAACAGTAAAGA	0.453													31	109					0	0	0	0	C	136652134	A	C	136652134	3	2	94	1	0	0	0	0	1	0	0	0	17775	14	1	5	1319	5	ZIC3	23	136652134	Missense_Mutation	SNP	A	TCGA-CN-6013-01A-11D-1683-08	28817781	136652134	18618426	208	18508											
GAB3	139716	broad.mit.edu	37	chrX	153944337	153944337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccaaggttgcagacctGactgatgctgtgcacccaca	9	8	12	12	0	0	3	0	2	0	1	0	3	0	3	3	2	3	4	3	2	1	1			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:153944337G>T	ENST00000369575.3	-	2	371	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.Q114K	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	114	PH.									NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGCAGACCTGACTGATGCTG	0.522													106	50					9.94044e-53	1.11148e-52	1	0	T	153944337	G	T	153944337	3	4	94	1	0	0	0	0	1	0	0	0	6198	1299	45	2	1459	2	GAB3	23	153944337	Missense_Mutation	SNP	G	TCGA-CN-6013-01A-11D-1683-08	17292203	153944337	1326223	209	18509											
CATSPER4	378807	broad.mit.edu	37	chr1	26527434	26527434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgcgggaggccccctgtcGaacctctcagaaaacacgtg	9	7	11	14	3	1	1	1	0	1	1	3	3	1	2	3	2	3	0	3	2	3	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:26527434G>A	ENST00000456354.2	+	8	1168	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	367					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCCTGTCGAACCTCTCAG	0.542													7	53					0	0	0	0	A	26527434	G	A	26527434	2	1	95	1	0	0	0	0	0	0	0	1	2715	1045	37	1		1	CATSPER4	1	26527434	Silent	SNP	G	TCGA-CN-6016-01A-11D-1683-08		26527434	222723187	1	18510											
DEPDC1	55635	broad.mit.edu	37	chr1	68947189	68947189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgactcattcgggaaatCatacgcattaaaagttgaag	14	13	8	6	2	2	2	2	2	0	0	3	3	2	3	0	1	1	2	0	1	5	6			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:68947189C>T	ENST00000456315.2	-	9	1983	c.1869G>A	c.(1867-1869)atG>atA	p.M623I	DEPDC1_ENST00000370966.5_Missense_Mutation_p.M339I|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	623	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TTCGGGAAATCATACGCATTA	0.393													3	26					0	0	0	0	T	68947189	C	T	68947189	3	4	95	1	0	0	0	0	1	0	0	0	4476	826	29	2	582	2	DEPDC1	1	68947189	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	42419755	68947189	180303432	2	18511											
ZZZ3	26009	broad.mit.edu	37	chr1	78099026	78099026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcttgtaacacgagtagatCgggaagcagccatactatgg	13	9	11	8	2	1	1	0	0	1	1	2	3	1	2	1	2	4	3	1	2	5	5			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:78099026C>T	ENST00000370801.3	-	5	489	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ACGAGTAGATCGGGAAGCAGC	0.403													9	42					0	0	0	0	T	78099026	C	T	78099026	3	4	95	1	0	0	0	0	1	0	0	0	18347	884	31	1	2741	1	ZZZ3	1	78099026	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	9151837	78099026	171151595	3	18512											
TMED5	50999	broad.mit.edu	37	chr1	93621908	93621908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgccagtaatatatttCttccaatcttcttgttcttg	7	20	5	9	0	5	0	0	0	5	0	6	0	6	0	2	0	1	2	2	0	4	9			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:93621908C>A	ENST00000370282.3	-	3	905	c.420G>T	c.(418-420)aaG>aaT	p.K140N	TMED5_ENST00000479918.1_Missense_Mutation_p.K140N|TMED5_ENST00000370280.1_Missense_Mutation_p.K140N|TMED5_ENST00000483033.1_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	140					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		TAATATATTTCTTCCAATCTT	0.353													12	77					2.27111e-07	2.4013e-07	1	0	A	93621908	C	A	93621908	3	1	95	1	0	0	0	0	1	0	0	0	16101	912	32	2	330	2	TMED5	1	93621908	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	15522882	93621908	155628713	4	18513											
GSTM4	2948	broad.mit.edu	37	chr1	110199342	110199342	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcttccagctggcccaCgccatccgcctgctcctgga	5	9	8	19	2	1	0	0	0	1	0	5	1	4	1	6	2	2	2	6	2	0	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:110199342C>T	ENST00000369836.4	+	2	354	c.45C>T	c.(43-45)caC>caT	p.H15H	GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000326729.5_Silent_p.H15H|GSTM4_ENST00000369833.1_5'UTR|GSTM4_ENST00000336075.5_Silent_p.H15H	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	15	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	AGCTGGCCCACGCCATCCGCC	0.582													23	127					0	0	0	0	T	110199342	C	T	110199342	2	4	95	1	0	0	0	0	0	0	0	1	6890	535	19	1		1	GSTM4	1	110199342	Silent	SNP	C	TCGA-CN-6016-01A-11D-1683-08	16577434	110199342	139051279	5	18514											
CD160	11126	broad.mit.edu	37	chr1	145704173	145704173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacaccatctatcccaggatCccttttaagtctcagctgtt	10	13	5	13	0	2	0	1	0	2	0	5	1	4	1	3	1	2	2	3	1	3	4			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:145704173C>T	ENST00000235933.6	-	2	346	c.244G>A	c.(244-246)Gat>Aat	p.D82N	CD160_ENST00000401557.3_Missense_Mutation_p.D82N|CD160_ENST00000369288.2_Missense_Mutation_p.D82N|CD160_ENST00000369290.1_Intron			O95971	BY55_HUMAN	CD160 molecule	82	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			ATCCCAGGATCCCTTTTAAGT	0.463													15	90					0	0	0	0	T	145704173	C	T	145704173	3	4	95	1	0	0	0	0	1	0	0	0	2995	855	30	2	313	2	CD160	1	145704173	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	35504831	145704173	103546448	6	18515											
CD160	11126	broad.mit.edu	37	chr1	145704204	145704204	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagctgttttaaactggtCtcaggagaacagtctccaga	11	11	9	10	0	3	2	2	0	2	2	5	3	3	2	1	2	3	2	1	2	3	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:145704204C>G	ENST00000235933.6	-	2	315	c.213G>C	c.(211-213)gaG>gaC	p.E71D	CD160_ENST00000401557.3_Missense_Mutation_p.E71D|CD160_ENST00000369288.2_Missense_Mutation_p.E71D|CD160_ENST00000369290.1_Intron			O95971	BY55_HUMAN	CD160 molecule	71	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TTAAACTGGTCTCAGGAGAAC	0.438													10	78					0	0	0	0	G	145704204	C	G	145704204	3	3	95	1	0	0	0	0	1	0	0	0	2995	912	32	2	344	2	CD160	1	145704204	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	31	145704204	103546417	7	18516											
MRPL9	65005	broad.mit.edu	37	chr1	151732587	151732587	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgggctaaccagtacttaTatcttttggtcttgggcttc	6	16	10	9	0	2	0	0	0	2	0	3	0	2	0	1	3	2	4	1	3	4	8			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:151732587T>C	ENST00000368830.3	-	7	827	c.743A>G	c.(742-744)tAt>tGt	p.Y248C	MRPL9_ENST00000467306.1_5'UTR|MRPL9_ENST00000368829.3_Missense_Mutation_p.Y214C	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	248					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGTACTTATATCTTTTGGT	0.498													6	50					0	0	0	0	C	151732587	T	C	151732587	3	2	95	1	0	0	0	0	1	0	0	0	9890	1406	49	5	64	5	MRPL9	1	151732587	Missense_Mutation	SNP	T	TCGA-CN-6016-01A-11D-1683-08	6028383	151732587	97518034	8	18517											
TDRD10	126668	broad.mit.edu	37	chr1	154492809	154492809	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtaccttctaaaggacttCaaccctcttgatgtccacaa	11	12	5	13	0	3	1	1	1	2	0	4	2	4	2	3	1	2	1	3	1	5	5			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:154492809C>T	ENST00000368482.4	+	5	1009	c.171C>T	c.(169-171)ttC>ttT	p.F57F	TDRD10_ENST00000368480.3_Silent_p.F57F	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	57	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAAAGGACTTCAACCCTCTTG	0.423													6	54					0	0	0	0	T	154492809	C	T	154492809	2	4	95	1	0	0	0	0	0	0	0	1	15825	825	29	2		2	TDRD10	1	154492809	Silent	SNP	C	TCGA-CN-6016-01A-11D-1683-08	2760222	154492809	94757812	9	18518											
ADAMTS4	9507	broad.mit.edu	37	chr1	161167904	161167904	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccaggtcccccagcagAgttaggggtgcctccctcca	7	6	11	17	0	0	1	0	0	0	1	3	1	3	1	7	3	3	2	7	3	1	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:161167904A>G	ENST00000367996.4	-	1	942	c.514T>C	c.(514-516)Tct>Cct	p.S172P	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.S172P	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	172					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCCCCAGCAGAGTTAGGGGTG	0.637													8	56					0	0	0	0	G	161167904	A	G	161167904	3	3	95	1	0	0	0	0	1	0	0	0	268	304	11	5	2035	5	ADAMTS4	1	161167904	Missense_Mutation	SNP	A	TCGA-CN-6016-01A-11D-1683-08	6675095	161167904	88082717	10	18519											
PAPPA2	60676	broad.mit.edu	37	chr1	176738784	176738784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttctgggcactgggaccaGaatgtgagctgccttcccgt	6	11	12	12	1	2	2	0	1	2	1	3	3	3	3	3	2	2	2	3	2	1	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:176738784G>C	ENST00000367662.3	+	16	5529	c.4365G>C	c.(4363-4365)caG>caC	p.Q1455H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1455	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTGGGACCAGAATGTGAGCT	0.468													16	57					0	0	0	0	C	176738784	G	C	176738784	3	2	95	1	0	0	0	0	1	0	0	0	11504	933	33	2	4476	2	PAPPA2	1	176738784	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	15570880	176738784	72511837	11	18520											
DDX59	83479	broad.mit.edu	37	chr1	200635068	200635068	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctattattaacacttacctcGaataaagctcgcatgataac	15	12	4	10	2	0	1	0	1	0	0	2	2	0	1	1	0	4	2	1	0	8	6			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:200635068G>A	ENST00000447706.2	-	2	952	c.801C>T	c.(799-801)ttC>ttT	p.F267F	DDX59_ENST00000331314.6_Silent_p.F267F|DDX59_ENST00000367348.3_Silent_p.F267F			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	267	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CACTTACCTCGAATAAAGCTC	0.368													6	46					0	0	0	0	A	200635068	G	A	200635068	2	1	95	1	0	0	0	0	0	0	0	1	4408	1049	37	1		1	DDX59	1	200635068	Silent	SNP	G	TCGA-CN-6016-01A-11D-1683-08	23896284	200635068	48615553	12	18521											
C1orf186	440712	broad.mit.edu	37	chr1	206243180	206243180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcaggtagttgatggCggtgaggaagcaggcctgca	9	7	18	7	1	0	3	0	3	0	0	0	4	0	4	1	5	3	6	1	5	2	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:206243180C>T	ENST00000331555.5	-	3	720	c.82G>A	c.(82-84)Gcc>Acc	p.A28T		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	28						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TAGTTGATGGCGGTGAGGAAG	0.557													13	53					0	0	0	0	T	206243180	C	T	206243180	3	4	95	1	0	0	0	0	1	0	0	0	2039	768	27	1	452	1	C1orf186	1	206243180	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	5608112	206243180	43007441	13	18522											
PLXNA2	5362	broad.mit.edu	37	chr1	208205080	208205080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacaaggtctcaaacaagtCgtccacaaacttctgcaggg	14	7	9	11	1	2	0	1	0	2	0	5	1	3	0	1	2	4	1	1	2	5	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:208205080C>T	ENST00000367033.3	-	29	5837	c.5080G>A	c.(5080-5082)Gac>Aac	p.D1694N		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1694					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCAAACAAGTCGTCCACAAAC	0.577													11	49					0	0	0	0	T	208205080	C	T	208205080	3	4	95	1	0	0	0	0	1	0	0	0	12192	884	31	1	620	1	PLXNA2	1	208205080	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	1961900	208205080	41045541	14	18523											
USH2A	7399	broad.mit.edu	37	chr1	215901489	215901489	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattctggctttgtccaattCaacagaactgaatgagcact	12	12	8	9	0	2	3	1	2	1	1	3	4	3	3	1	1	3	2	1	1	4	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:215901489C>T	ENST00000366943.2	-	61	12335	c.11949G>A	c.(11947-11949)ttG>ttA	p.L3983L	USH2A_ENST00000307340.3_Silent_p.L3983L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3983	Fibronectin type-III 25.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTCCAATTCAACAGAACTG	0.498										HNSCC(13;0.011)			14	91					0	0	0	0	T	215901489	C	T	215901489	2	4	95	1	0	0	0	0	0	0	0	1	17132	825	29	2		2	USH2A	1	215901489	Silent	SNP	C	TCGA-CN-6016-01A-11D-1683-08	7696409	215901489	33349132	15	18524											
ARID4B	51742	broad.mit.edu	37	chr1	235345577	235345577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttgtccgtagagattttCttttttcctccaaaccattg	8	17	6	10	1	1	1	0	0	1	1	4	2	4	1	4	0	1	2	4	0	2	8			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:235345577C>G	ENST00000264183.3	-	20	3154	c.2657G>C	c.(2656-2658)aGa>aCa	p.R886T	ARID4B_ENST00000366603.2_Missense_Mutation_p.R886T|ARID4B_ENST00000349213.3_Missense_Mutation_p.R800T	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	886					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TAGAGATTTTCTTTTTTCCTC	0.348													20	92					0	0	0	0	G	235345577	C	G	235345577	3	3	95	1	0	0	0	0	1	0	0	0	922	913	32	2	1301	2	ARID4B	1	235345577	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	19444088	235345577	13905044	16	18525											
HEATR1	55127	broad.mit.edu	37	chr1	236722359	236722359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtccagcgctttgcggCgaacagatggcaggggattg	10	7	16	8	3	0	1	0	0	0	1	1	3	1	2	1	5	3	2	1	5	2	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:236722359C>T	ENST00000366582.3	-	35	4961	c.4847G>A	c.(4846-4848)cGc>cAc	p.R1616H	HEATR1_ENST00000366581.2_Missense_Mutation_p.R1535H	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1616					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CGCTTTGCGGCGAACAGATGG	0.458													14	55					0	0	0	0	T	236722359	C	T	236722359	3	4	95	1	0	0	0	0	1	0	0	0	7077	768	27	1	1631	1	HEATR1	1	236722359	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	1376782	236722359	12528262	17	18526											
CLIP4	79745	broad.mit.edu	37	chr2	29375604	29375604	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaaggtcgaaggaagaatAtaacacacactccttctaca	18	7	6	10	1	1	1	0	0	1	1	3	3	2	2	1	2	2	0	1	2	8	4	rs147860020		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:29375604A>G	ENST00000320081.5	+	9	1330	c.1075A>G	c.(1075-1077)Ata>Gta	p.I359V	CLIP4_ENST00000401605.1_Missense_Mutation_p.I359V|CLIP4_ENST00000401617.2_Missense_Mutation_p.I252V|CLIP4_ENST00000404424.1_Missense_Mutation_p.I359V	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	359										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AAGGAAGAATATAACACACAC	0.363													4	42					0	0	0	0	G	29375604	A	G	29375604	3	3	95	1	0	0	0	0	1	0	0	0	3565	449	16	5	1105	5	CLIP4	2	29375604	Missense_Mutation	SNP	A	TCGA-CN-6016-01A-11D-1683-08		29375604	213823769	18	18527											
DYSF	8291	broad.mit.edu	37	chr2	71828648	71828648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggccatccaccatattcCtggttttgaggtaagtcttg	7	13	10	11	1	1	1	0	1	1	0	3	1	3	1	5	3	0	2	5	3	2	6			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:71828648C>T	ENST00000258104.3	+	35	4140	c.3863C>T	c.(3862-3864)cCt>cTt	p.P1288L	DYSF_ENST00000410020.3_Missense_Mutation_p.P1306L|DYSF_ENST00000413539.2_Missense_Mutation_p.P1319L|DYSF_ENST00000410041.1_Missense_Mutation_p.P1306L|DYSF_ENST00000409366.1_Missense_Mutation_p.P1289L|DYSF_ENST00000409582.3_Missense_Mutation_p.P1305L|DYSF_ENST00000394120.2_Missense_Mutation_p.P1289L|DYSF_ENST00000409744.1_Missense_Mutation_p.P1275L|DYSF_ENST00000409762.1_Missense_Mutation_p.P1305L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.P1320L|DYSF_ENST00000429174.2_Missense_Mutation_p.P1288L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1288						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CACCATATTCCTGGTTTTGAG	0.512													7	47					0	0	0	0	T	71828648	C	T	71828648	3	4	95	1	0	0	0	0	1	0	0	0	4895	681	24	4	4193	4	DYSF	2	71828648	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	42453044	71828648	171370725	19	18528											
NCAPH	23397	broad.mit.edu	37	chr2	97007517	97007517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctggcaccccagtcctcGaagactttcctcagaatgac	9	10	7	15	1	1	3	1	1	0	2	5	4	4	3	5	1	0	1	5	1	2	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:97007517G>A	ENST00000455200.1	+	2	419	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000240423.4_Missense_Mutation_p.E53K			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	53					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCCAGTCCTCGAAGACTTTCC	0.597													18	91					0	0	0	0	A	97007517	G	A	97007517	3	1	95	1	0	0	0	0	1	0	0	0	10279	1059	37	1	163	1	NCAPH	2	97007517	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	25178869	97007517	146191856	20	18529											
EPB41L5	57669	broad.mit.edu	37	chr2	120833323	120833323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaattggcagcttataatCtgcaaggtaagcaattctta	13	13	8	7	0	2	0	0	0	2	0	2	0	2	0	0	2	4	6	0	2	7	6			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:120833323C>G	ENST00000263713.5	+	7	713	c.499C>G	c.(499-501)Ctg>Gtg	p.L167V	EPB41L5_ENST00000443124.1_Missense_Mutation_p.L167V|EPB41L5_ENST00000443902.2_Missense_Mutation_p.L167V|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L167V|EPB41L5_ENST00000331393.4_Missense_Mutation_p.L167V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	167	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGCTTATAATCTGCAAGGTAA	0.323													10	56					0	0	0	0	G	120833323	C	G	120833323	3	3	95	1	0	0	0	0	1	0	0	0	5195	912	32	2	521	2	EPB41L5	2	120833323	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	23825806	120833323	122366050	21	18530											
POTEF	728378	broad.mit.edu	37	chr2	130832564	130832564	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtacatggctggggtgttGaaggtctcaaacatgatctg	10	11	13	7	1	2	2	1	2	2	0	3	2	2	2	0	4	2	3	0	4	3	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:130832564G>A	ENST00000357462.5	-	15	2574	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F	POTEF_ENST00000409914.2_Silent_p.F827F			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	827	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTGGGGTGTTGAAGGTCTCAA	0.612													32	118					0	0	0	0	A	130832564	G	A	130832564	2	1	95	1	0	0	0	0	0	0	0	1	12337	1281	45	2		2	POTEF	2	130832564	Silent	SNP	G	TCGA-CN-6016-01A-11D-1683-08	9999241	130832564	112366809	22	18531											
NEB	4703	broad.mit.edu	37	chr2	152483523	152483523	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgggggctcaccttgttcAtattgagagcattgttcttg	7	16	11	7	0	3	1	2	1	1	1	3	2	3	1	1	2	1	4	1	2	1	8			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:152483523A>G	ENST00000427231.2	-	70	10542	c.10340T>C	c.(10339-10341)aTg>aCg	p.M3447T	NEB_ENST00000409198.1_Missense_Mutation_p.M3204T|NEB_ENST00000172853.10_Missense_Mutation_p.M3204T|NEB_ENST00000397345.3_Missense_Mutation_p.M3447T|NEB_ENST00000603639.1_Missense_Mutation_p.M3447T|NEB_ENST00000604864.1_Missense_Mutation_p.M3447T	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3447					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACCTTGTTCATATTGAGAGC	0.408													16	61					0	0	0	0	G	152483523	A	G	152483523	3	3	95	1	0	0	0	0	1	0	0	0	10372	217	8	5	15798	5	NEB	2	152483523	Missense_Mutation	SNP	A	TCGA-CN-6016-01A-11D-1683-08	21650959	152483523	90715850	23	18532											
HNRNPA3	220988	broad.mit.edu	37	chr2	178080540	178080540	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgacttattcttgtgtTgaagaggtggatgcagcaat	9	16	12	4	0	1	3	0	2	1	1	1	4	1	4	0	2	2	3	0	2	3	5			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:178080540T>C	ENST00000411529.2	+	3	243	c.192T>C	c.(190-192)gtT>gtC	p.V64V	HNRNPA3_ENST00000435711.1_Silent_p.V86V|HNRNPA3_ENST00000392524.2_Silent_p.V86V	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	86	RRM 1.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						ATTCTTGTGTTGAAGAGGTGG	0.408													17	95					0	0	0	0	C	178080540	T	C	178080540	2	2	95	1	0	0	0	0	0	0	0	1	7310	1799	63	5		5	HNRNPA3	2	178080540	Silent	SNP	T	TCGA-CN-6016-01A-11D-1683-08	25597017	178080540	65118833	24	18533											
OSBPL6	114880	broad.mit.edu	37	chr2	179251794	179251794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctatgtcatttagatatcaGatggaaaaacaagttctggg	14	12	9	6	0	3	2	2	0	1	2	3	3	3	3	1	2	1	1	1	2	6	5			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:179251794G>A	ENST00000190611.4	+	20	2460	c.2084G>A	c.(2083-2085)aGa>aAa	p.R695K	OSBPL6_ENST00000409045.3_Missense_Mutation_p.R664K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R659K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R720K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R659K|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R699K	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	695					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTAGATATCAGATGGAAAAAC	0.398													5	28					0	0	0	0	A	179251794	G	A	179251794	3	1	95	1	0	0	0	0	1	0	0	0	11352	942	33	2	2276	2	OSBPL6	2	179251794	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	1171254	179251794	63947579	25	18534											
TTN	7273	broad.mit.edu	37	chr2	179641976	179641976	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgactttcatttcaagtcGggaaccttcctttatattga	9	17	6	9	1	3	2	2	2	1	0	5	3	4	3	2	1	1	0	2	1	4	7			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:179641976G>A	ENST00000589042.1	-	27	4938	c.4714C>T	c.(4714-4716)Cga>Tga	p.R1572*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R1572*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R1526*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R1526*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R1572*|TTN_ENST00000360870.5_Nonsense_Mutation_p.R1572*|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R1526*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1307	Ig-like 7.		Q -> R (in dbSNP:rs12476289).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1526*(3)|p.R1572*(2)		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)			ATTTCAAGTCGGGAACCTTCC	0.393													21	70					0	0	0	0	A	179641976	G	A	179641976	4	1	95	1	0	0	0	0	0	1	0	0	16831	1124	39	1	106618	1	TTN	2	179641976	Nonsense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	390182	179641976	63557397	26	18535											
GIGYF2	26058	broad.mit.edu	37	chr2	233684583	233684583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagaaattgcattaaggcGacagcgagaagaggaagaaa	19	4	13	5	2	0	4	0	0	0	4	0	7	0	5	0	2	2	2	0	2	6	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:233684583G>A	ENST00000373566.3	+	22	2680	c.2483G>A	c.(2482-2484)cGa>cAa	p.R828Q	GIGYF2_ENST00000409547.1_Missense_Mutation_p.R806Q|GIGYF2_ENST00000452341.2_Missense_Mutation_p.R637Q|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R806Q|GIGYF2_ENST00000409451.3_Missense_Mutation_p.R827Q|GIGYF2_ENST00000409196.3_Missense_Mutation_p.R800Q|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R828Q			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	806	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCATTAAGGCGACAGCGAGAA	0.512													5	22					0	0	0	0	A	233684583	G	A	233684583	3	1	95	1	0	0	0	0	1	0	0	0	6429	1058	37	1	2561	1	GIGYF2	2	233684583	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	54042607	233684583	9514790	27	18536											
IL17RC	84818	broad.mit.edu	37	chr3	9960234	9960234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcctaccctactgccCgctgcgtcctgctggaggtg	4	9	12	16	2	0	0	0	0	0	0	2	1	2	1	5	3	5	2	5	3	2	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:9960234C>T	ENST00000295981.3	+	5	837	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	IL17RC_ENST00000403601.3_Missense_Mutation_p.R136C|IL17RC_ENST00000383812.4_Missense_Mutation_p.R136C|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.R136C|IL17RC_ENST00000413608.1_Missense_Mutation_p.R136C|IL17RC_ENST00000416074.2_Missense_Mutation_p.R7C	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	207						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCCTACTGCCCGCTGCGTCCT	0.572													8	51					0	0	0	0	T	9960234	C	T	9960234	3	4	95	1	0	0	0	0	1	0	0	0	7694	652	23	1	637	1	IL17RC	3	9960234	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08		9960234	188062196	28	18537											
RARB	5915	broad.mit.edu	37	chr3	25611301	25611301	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagacttcgaagcaagaatgCacagagagctatgaaatgac	17	6	11	7	1	0	5	0	2	0	3	1	8	0	5	0	0	3	3	0	0	5	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:25611301C>T	ENST00000330688.4	+	4	922	c.501C>T	c.(499-501)tgC>tgT	p.C167C	RARB_ENST00000404969.1_Silent_p.C174C|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Silent_p.C55C|RARB_ENST00000458646.1_Silent_p.C55C	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	174	Hinge.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGCAAGAATGCACAGAGAGCT	0.493													5	43					0	0	0	0	T	25611301	C	T	25611301	2	4	95	1	0	0	0	0	0	0	0	1	13135	718	25	4		4	RARB	3	25611301	Silent	SNP	C	TCGA-CN-6016-01A-11D-1683-08	15651067	25611301	172411129	29	18538											
TRAK1	22906	broad.mit.edu	37	chr3	42242386	42242386	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctctgaccccttctcccAtgaacatccccggctccaac	8	9	5	19	1	2	2	0	2	2	0	6	3	4	2	6	1	2	1	6	1	2	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:42242386A>G	ENST00000327628.5	+	12	1667	c.1267A>G	c.(1267-1269)Atg>Gtg	p.M423V	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Missense_Mutation_p.M365V|TRAK1_ENST00000396175.1_Missense_Mutation_p.M365V|TRAK1_ENST00000449246.1_Missense_Mutation_p.M349V	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	423	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCCTTCTCCCATGAACATCCC	0.567													13	67					0	0	0	0	G	42242386	A	G	42242386	3	3	95	1	0	0	0	0	1	0	0	0	16544	217	8	5	1429	5	TRAK1	3	42242386	Missense_Mutation	SNP	A	TCGA-CN-6016-01A-11D-1683-08	16631085	42242386	155780044	30	18539											
KIF15	56992	broad.mit.edu	37	chr3	44852484	44852484	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgagccagttcctcctgaGatgaatgaacaagcttttga	13	11	9	8	0	0	5	0	5	0	1	2	6	2	5	3	0	3	2	3	0	4	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:44852484G>A	ENST00000326047.4	+	17	2267	c.2118G>A	c.(2116-2118)gaG>gaA	p.E706E	KIF15_ENST00000425755.1_Silent_p.E341E	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	706					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTCCTCCTGAGATGAATGAAC	0.343													9	50					0	0	0	0	A	44852484	G	A	44852484	2	1	95	1	0	0	0	0	0	0	0	1	8328	933	33	2		2	KIF15	3	44852484	Silent	SNP	G	TCGA-CN-6016-01A-11D-1683-08	2610098	44852484	153169946	31	18540											
SLC12A8	84561	broad.mit.edu	37	chr3	124810400	124810400	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgagaagggacccaacagCctgtgaaaacagagtaggaa	17	4	13	7	0	0	3	0	2	0	2	0	7	0	5	2	2	3	1	2	2	6	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:124810400C>A	ENST00000423114.2	-	12	1890	c.1890_splice	c.e12-1	p.A631_splice	SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000430155.2_Splice_Site_p.A403_splice|SLC12A8_ENST00000393469.4_Splice_Site_p.A602_splice|SLC12A8_ENST00000469902.1_Splice_Site_p.A602_splice			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	602					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GACCCAACAGCCTGTGAAAAC	0.468													10	26					0.00621372	0.00632808	1	0	A	124810400	C	A	124810400	5	1	95	1	0	0	0	0	0	0	1	0	14477	753	26	4	352	4	SLC12A8	3	124810400	Splice_Site	SNP	C	TCGA-CN-6016-01A-11D-1683-08	79957916	124810400	73212030	32	18541											
VEPH1	79674	broad.mit.edu	37	chr3	157031448	157031448	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggactccatcatggcagtttCaaagctgtgagcaccccctg	9	9	10	13	0	2	1	2	1	0	0	3	2	3	2	3	2	2	4	3	2	1	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:157031448C>G	ENST00000362010.2	-	11	2279	c.1972G>C	c.(1972-1974)Gaa>Caa	p.E658Q	RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Missense_Mutation_p.E658Q|VEPH1_ENST00000543418.1_Intron|RP11-550I24.2_ENST00000494885.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	658						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ATGGCAGTTTCAAAGCTGTGA	0.478													12	46					0	0	0	0	G	157031448	C	G	157031448	3	3	95	1	0	0	0	0	1	0	0	0	17250	835	29	2	545	2	VEPH1	3	157031448	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	32221048	157031448	40990982	33	18542											
SI	6476	broad.mit.edu	37	chr3	164764678	164764678	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattccagttatagaccatTccatttgttcccatgaagca	11	13	6	11	0	0	2	0	1	0	1	3	2	3	2	4	0	1	4	4	0	3	6			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:164764678T>A	ENST00000264382.3	-	16	1900	c.1838A>T	c.(1837-1839)gAa>gTa	p.E613V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	613	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATAGACCATTCCATTTGTTC	0.383										HNSCC(35;0.089)			29	91					0	0	0	0	A	164764678	T	A	164764678	3	1	95	1	0	0	0	0	1	0	0	0	14385	1783	62	5	3777	5	SI	3	164764678	Missense_Mutation	SNP	T	TCGA-CN-6016-01A-11D-1683-08	7733230	164764678	33257752	34	18543											
KLHL24	54800	broad.mit.edu	37	chr3	183368442	183368442	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgttttgtaatgaccacAgggaaagccgagaaatgttg	13	11	11	6	1	0	2	0	1	0	1	0	4	0	3	2	1	1	3	2	1	4	5			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:183368442A>G	ENST00000454652.1	+	4	684	c.298A>G	c.(298-300)Agg>Ggg	p.R100G	KLHL24_ENST00000242810.6_Missense_Mutation_p.R100G|KLHL24_ENST00000476808.1_Missense_Mutation_p.R100G			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	100	BTB.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TAATGACCACAGGGAAAGCCG	0.398													52	119					0	0	0	0	G	183368442	A	G	183368442	3	3	95	1	0	0	0	0	1	0	0	0	8431	179	7	5	300	5	KLHL24	3	183368442	Missense_Mutation	SNP	A	TCGA-CN-6016-01A-11D-1683-08	18603764	183368442	14653988	35	18544											
RTP1	132112	broad.mit.edu	37	chr3	186917476	186917476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgctatgagtgcggcaCggcgcggctggacgagtcca	6	7	17	11	5	0	1	0	1	0	0	1	3	1	2	1	4	2	4	1	4	1	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:186917476C>T	ENST00000312295.4	+	2	440	c.410C>T	c.(409-411)aCg>aTg	p.T137M	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	137					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GAGTGCGGCACGGCGCGGCTG	0.662													8	40					0	0	0	0	T	186917476	C	T	186917476	3	4	95	1	0	0	0	0	1	0	0	0	13818	536	19	1	416	1	RTP1	3	186917476	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	3549034	186917476	11104954	36	18545											
KLB	152831	broad.mit.edu	37	chr4	39449964	39449964	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaaaggctattatgcattCaaactggctgaagagaaatc	16	10	8	7	0	2	2	2	1	0	1	3	3	2	2	0	2	2	3	0	2	6	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:39449964C>G	ENST00000257408.4	+	5	2890	c.2793C>G	c.(2791-2793)ttC>ttG	p.F931L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	931	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ATTATGCATTCAAACTGGCTG	0.323													7	34					0	0	0	0	G	39449964	C	G	39449964	3	3	95	1	0	0	0	0	1	0	0	0	8384	825	29	2	2811	2	KLB	4	39449964	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08		39449964	151704312	37	18546											
SLC4A4	8671	broad.mit.edu	37	chr4	72316995	72316995	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggacatggggattgTgaagaattgcagcgaactgg	12	7	18	4	1	0	2	0	1	0	1	0	7	0	6	0	6	3	1	0	6	3	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:72316995T>C	ENST00000340595.3	+	8	1363	c.1167T>C	c.(1165-1167)tgT>tgC	p.C389C	SLC4A4_ENST00000512686.1_Silent_p.C389C|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Silent_p.C433C|SLC4A4_ENST00000425175.1_Silent_p.C433C|SLC4A4_ENST00000351898.6_Silent_p.C433C	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	433						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ATGGGGATTGTGAAGAATTGC	0.433													8	39					0	0	0	0	C	72316995	T	C	72316995	2	2	95	1	0	0	0	0	0	0	0	1	14744	1702	59	5		5	SLC4A4	4	72316995	Silent	SNP	T	TCGA-CN-6016-01A-11D-1683-08	32867031	72316995	118837281	38	18547											
FAM13A	10144	broad.mit.edu	37	chr4	89660214	89660214	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgttagctcgggagaggatCtgtttgaccagccggtacct	7	11	14	9	2	1	2	0	1	1	1	2	4	1	3	3	3	3	4	3	3	2	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:89660214C>G	ENST00000264344.5	-	20	2736	c.2529G>C	c.(2527-2529)caG>caC	p.Q843H	FAM13A_ENST00000395002.2_Missense_Mutation_p.Q517H|FAM13A_ENST00000513837.1_Missense_Mutation_p.Q489H|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q503H|FAM13A_ENST00000511976.1_Missense_Mutation_p.Q429H|FAM13A_ENST00000508369.1_Missense_Mutation_p.Q517H	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	843					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GGGAGAGGATCTGTTTGACCA	0.493													8	32					0	0	0	0	G	89660214	C	G	89660214	3	3	95	1	0	0	0	0	1	0	0	0	5493	912	32	2	562	2	FAM13A	4	89660214	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	17343219	89660214	101494062	39	18548											
UNC5C	8633	broad.mit.edu	37	chr4	96256763	96256763	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggaaaagtttctgggagTtcatgaaaaaagtcatcatc	16	10	10	5	0	4	1	3	1	1	0	5	4	4	3	0	2	0	2	0	2	6	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:96256763T>C	ENST00000453304.1	-	2	492	c.144A>G	c.(142-144)gaA>gaG	p.E48E	UNC5C_ENST00000504962.1_Silent_p.E48E|UNC5C_ENST00000506749.1_Silent_p.E48E	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	48					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTTCTGGGAGTTCATGAAAAA	0.393													5	24					0	0	0	0	C	96256763	T	C	96256763	2	2	95	1	0	0	0	0	0	0	0	1	17089	1722	60	5		5	UNC5C	4	96256763	Silent	SNP	T	TCGA-CN-6016-01A-11D-1683-08	6596549	96256763	94897513	40	18549											
PRDM5	11107	broad.mit.edu	37	chr4	121732584	121732584	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttattgcacactgaacataTaagctttttcttaggatctc	11	17	5	8	0	2	1	0	1	2	0	3	2	2	2	0	1	3	2	0	1	5	8			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:121732584T>C	ENST00000264808.3	-	8	1126	c.886A>G	c.(886-888)Ata>Gta	p.I296V	PRDM5_ENST00000515109.1_Missense_Mutation_p.I265V|PRDM5_ENST00000428209.2_Missense_Mutation_p.I265V	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	296					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACTGAACATATAAGCTTTTTC	0.299													4	27					0	0	0	0	C	121732584	T	C	121732584	3	2	95	1	0	0	0	0	1	0	0	0	12540	1406	49	5	1042	5	PRDM5	4	121732584	Missense_Mutation	SNP	T	TCGA-CN-6016-01A-11D-1683-08	25475821	121732584	69421692	41	18550											
PCDH18	54510	broad.mit.edu	37	chr4	138450946	138450946	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgatgggcagagtgccaTttatggtaggcaccaatgtg	10	11	13	7	0	1	2	0	1	1	1	1	2	1	2	2	3	1	3	2	3	3	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:138450946T>C	ENST00000344876.4	-	1	2683	c.2297A>G	c.(2296-2298)aAt>aGt	p.N766S	PCDH18_ENST00000507846.1_Missense_Mutation_p.N546S|PCDH18_ENST00000412923.2_Missense_Mutation_p.N766S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	766					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CAGAGTGCCATTTATGGTAGG	0.517													11	55					0	0	0	0	C	138450946	T	C	138450946	3	2	95	1	0	0	0	0	1	0	0	0	11584	1493	52	5	1126	5	PCDH18	4	138450946	Missense_Mutation	SNP	T	TCGA-CN-6016-01A-11D-1683-08	16718362	138450946	52703330	42	18551											
FAT1	2195	broad.mit.edu	37	chr4	187557335	187557336	+	Frame_Shift_Ins	INS	-	-	A																															ggcttggagatccattcaatINSatggagtctggtggttgatg																										TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:187557335_187557336insA	ENST00000441802.2	-	6	4235_4236	c.4026_4027insT	c.(4024-4029)cattgafs	p.*1343fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1343	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCCATTCAATATGGAGTCTGG	0.436										HNSCC(5;0.00058)			8	40	---	---	---	---					A	187557336	-	A	187557335	7	5	95	1	0	1	1	0	0	0	0	0	5734	1406	49	0	9827	0	FAT1	4	187557335	Frame_Shift_Ins	INS	-	TCGA-CN-6016-01A-11D-1683-08	49106389	187557335	3596941	43	18552											
NPR3	4883	broad.mit.edu	37	chr5	32712139	32712139	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgcgcagcgtggagggcaAcgggactgggaggcggcttc	6	6	19	10	4	1	0	0	0	1	0	2	3	1	3	0	6	3	3	0	6	1	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr5:32712139A>G	ENST00000265074.8	+	1	600	c.257A>G	c.(256-258)aAc>aGc	p.N86S	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.N86S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	86					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GTGGAGGGCAACGGGACTGGG	0.632													4	46					0	0	0	0	G	32712139	A	G	32712139	3	3	95	1	0	0	0	0	1	0	0	0	10667	43	2	5	259	5	NPR3	5	32712139	Missense_Mutation	SNP	A	TCGA-CN-6016-01A-11D-1683-08		32712139	148203121	44	18553											
GZMK	3003	broad.mit.edu	37	chr5	54329703	54329703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctacaccctgttaaccaaGaaataccagacttggatcaa	16	9	5	11	0	2	2	1	0	1	2	2	3	2	3	3	1	3	1	3	1	6	4			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr5:54329703G>C	ENST00000231009.2	+	5	814	c.744G>C	c.(742-744)aaG>aaC	p.K248N	CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	248	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGTTAACCAAGAAATACCAGA	0.423													6	58					0	0	0	0	C	54329703	G	C	54329703	3	2	95	1	0	0	0	0	1	0	0	0	6968	933	33	2	762	2	GZMK	5	54329703	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	21617564	54329703	126585557	45	18554											
PCDHB1	29930	broad.mit.edu	37	chr5	140431659	140431659	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaacaaacccctggacCgagaggagcagcctgaagtc	12	5	12	12	1	0	3	0	2	0	1	1	6	0	5	4	2	5	2	4	2	3	0			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr5:140431659C>T	ENST00000306549.3	+	1	681	c.604C>T	c.(604-606)Cga>Tga	p.R202*		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		202	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCCTGGACCGAGAGGAGCA	0.577													4	27					0	0	0	0	T	140431659	C	T	140431659	4	4	95	1	0	0	0	0	0	1	0	0	11605	644	23	1	606	1	PCDHB1	5	140431659	Nonsense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	86101956	140431659	40483601	46	18555											
TLX3	30012	broad.mit.edu	37	chr5	170738466	170738466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagctgcaacacgacGccttccaaaagagcctcaac	12	6	8	15	2	1	1	1	0	0	1	2	2	2	1	3	0	7	4	3	0	4	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr5:170738466G>A	ENST00000296921.5	+	3	821	c.739G>A	c.(739-741)Gcc>Acc	p.A247T		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	247						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAACACGACGCCTTCCAAAA	0.652			T	BCL11B	T-ALL								5	14					0	0	0	0	A	170738466	G	A	170738466	3	1	95	1	0	0	0	0	1	0	0	0	16056	1087	38	1	749	1	TLX3	5	170738466	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	30306807	170738466	10176794	47	18556											
TDP2	51567	broad.mit.edu	37	chr6	24658077	24658077	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttacttgatctcttctttagGtagctataatatgggggaat	10	17	9	5	0	2	1	0	1	2	0	3	2	2	2	0	3	2	2	0	3	7	9			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:24658077G>A	ENST00000341060.3	-	3	701	c.306C>T	c.(304-306)taC>taT	p.Y102Y	TDP2_ENST00000378198.4_Silent_p.Y160Y|TDP2_ENST00000545995.1_Silent_p.Y190Y|TDP2_ENST00000478285.1_5'UTR			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	160					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TCTTCTTTAGGTAGCTATAAT	0.299								Direct reversal of damage					10	51					0	0	0	0	A	24658077	G	A	24658077	2	1	95	1	0	0	0	0	0	0	0	1	15823	1256	44	4		4	TDP2	6	24658077	Silent	SNP	G	TCGA-CN-6016-01A-11D-1683-08		24658077	146456990	48	18557											
DHX16	8449	broad.mit.edu	37	chr6	30624814	30624814	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaccctggatccagcacaTaaatgatgccctcaatggtg	13	8	9	11	0	1	2	1	1	0	1	2	3	2	3	3	2	3	1	3	2	4	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:30624814T>A	ENST00000376442.3	-	13	2258	c.2063A>T	c.(2062-2064)tAt>tTt	p.Y688F	DHX16_ENST00000376437.5_Missense_Mutation_p.Y207F	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	688	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						ATCCAGCACATAAATGATGCC	0.542													5	24					0	0	0	0	A	30624814	T	A	30624814	3	1	95	1	0	0	0	0	1	0	0	0	4539	1406	49	5	1094	5	DHX16	6	30624814	Missense_Mutation	SNP	T	TCGA-CN-6016-01A-11D-1683-08	5966737	30624814	140490253	49	18558											
ITPR3	3710	broad.mit.edu	37	chr6	33636358	33636358	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccccgtcacccaagagctCatctgcaagtgtgtgctgga	9	9	10	13	1	3	1	2	0	1	1	4	2	4	2	3	1	3	3	3	1	2	0			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:33636358C>G	ENST00000374316.5	+	18	3013	c.1953C>G	c.(1951-1953)ctC>ctG	p.L651L	ITPR3_ENST00000605930.1_Silent_p.L651L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	651					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCCAAGAGCTCATCTGCAAGT	0.617													12	37					0	0	0	0	G	33636358	C	G	33636358	2	3	95	1	0	0	0	0	0	0	0	1	7975	813	29	2		2	ITPR3	6	33636358	Silent	SNP	C	TCGA-CN-6016-01A-11D-1683-08	3011544	33636358	137478709	50	18559											
TRERF1	55809	broad.mit.edu	37	chr6	42222641	42222641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaacctgacaggcttccgCagtagcagcatttccagagc	10	10	9	12	1	0	2	0	1	0	1	2	2	2	2	3	1	4	5	3	1	2	5	rs143046982		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:42222641C>T	ENST00000541110.1	-	13	3232	c.2664G>A	c.(2662-2664)ctG>ctA	p.L888L	TRERF1_ENST00000372917.4_Silent_p.L785L|TRERF1_ENST00000340840.2_Silent_p.L785L|TRERF1_ENST00000372922.4_Silent_p.L868L|TRERF1_ENST00000354325.2_Silent_p.L785L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	868	Interacts with CREBBP.|SANT.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGGCTTCCGCAGTAGCAGCA	0.522													12	31					0	0	0	0	T	42222641	C	T	42222641	2	4	95	1	0	0	0	0	0	0	0	1	16570	697	25	4		4	TRERF1	6	42222641	Silent	SNP	C	TCGA-CN-6016-01A-11D-1683-08	8586283	42222641	128892426	51	18560											
KLHDC3	116138	broad.mit.edu	37	chr6	42986153	42986153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtatgtctttgggggcCgtgccgaccgctttgggcca	5	11	14	11	3	1	0	0	0	1	0	1	1	1	0	4	3	1	2	4	3	1	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:42986153C>T	ENST00000326974.4	+	6	787	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	KLHDC3_ENST00000244670.8_Missense_Mutation_p.R64C|KLHDC3_ENST00000332245.8_Missense_Mutation_p.R139C	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	198					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTTTGGGGGCCGTGCCGACCG	0.577													26	41					0	0	0	0	T	42986153	C	T	42986153	3	4	95	1	0	0	0	0	1	0	0	0	8409	652	23	1	610	1	KLHDC3	6	42986153	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	763512	42986153	128128914	52	18561											
MCM3	4172	broad.mit.edu	37	chr6	52141938	52141938	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccagtggtggggatagcTcggggtgcagtgcaaagcac	8	6	18	9	2	0	0	0	0	0	0	1	1	0	1	1	6	4	4	1	6	2	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:52141938T>A	ENST00000596288.1	-	8	1254	c.1227A>T	c.(1225-1227)cgA>cgT	p.R409R	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Silent_p.R318R|MCM3_ENST00000229854.7_Silent_p.R364R	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	364	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TGGGGATAGCTCGGGGTGCAG	0.592													12	50					0	0	0	0	A	52141938	T	A	52141938	2	1	95	1	0	0	0	0	0	0	0	1	9456	1538	54	5		5	MCM3	6	52141938	Silent	SNP	T	TCGA-CN-6016-01A-11D-1683-08	9155785	52141938	118973129	53	18562											
COL19A1	1310	broad.mit.edu	37	chr6	70639472	70639472	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attagtatacaatcccaggtCatttcactttatatggattg	12	16	6	7	0	2	0	2	0	0	0	3	1	3	1	1	2	1	1	1	2	6	8			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:70639472C>T	ENST00000322773.4	+	6	648	c.546C>T	c.(544-546)gtC>gtT	p.V182V		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	182	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AATCCCAGGTCATTTCACTTT	0.418													11	68					0	0	0	0	T	70639472	C	T	70639472	2	4	95	1	0	0	0	0	0	0	0	1	3706	813	29	2		2	COL19A1	6	70639472	Silent	SNP	C	TCGA-CN-6016-01A-11D-1683-08	18497534	70639472	100475595	54	18563											
FAM184A	79632	broad.mit.edu	37	chr6	119295660	119295660	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaaaatctgcccgcatgaTatttttctctctgaggtggt	9	16	8	8	1	3	2	0	2	3	0	4	2	3	2	1	2	1	1	1	2	3	4			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:119295660T>C	ENST00000338891.7	-	14	3291	c.2848A>G	c.(2848-2850)Atc>Gtc	p.I950V	FAM184A_ENST00000368475.4_Intron|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000521531.1_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	950										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCCCGCATGATATTTTTCTCT	0.338													58	177					0	0	0	0	C	119295660	T	C	119295660	3	2	95	1	0	0	0	0	1	0	0	0	5553	1406	49	5	594	5	FAM184A	6	119295660	Missense_Mutation	SNP	T	TCGA-CN-6016-01A-11D-1683-08	48656188	119295660	51819407	55	18564											
CNKSR3	154043	broad.mit.edu	37	chr6	154831199	154831199	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccccaaggcccgcgcacctCtagtccagtccaccacttgt	7	7	7	20	2	1	0	0	0	1	0	3	0	3	0	7	1	0	1	7	1	2	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:154831199C>G	ENST00000607772.1	-	1	594	c.50G>C	c.(49-51)aGa>aCa	p.R17T		NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	17	SAM.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CCGCGCACCTCTAGTCCAGTC	0.647													21	126					0	0	0	0	G	154831199	C	G	154831199	3	3	95	1	0	0	0	0	1	0	0	0	3638	913	32	2	1669	2	CNKSR3	6	154831199	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	35535539	154831199	16283868	56	18565											
RPS6KA2	6196	broad.mit.edu	37	chr6	166944753	166944753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttaaggaccttcatggCgtagagctgcccagcgtcgg	7	11	12	11	3	2	1	1	0	1	1	3	2	2	2	2	3	3	2	2	3	2	4			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:166944753C>T	ENST00000510118.1	-	5	680	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.A97T|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000405189.3_5'UTR|RPS6KA2_ENST00000481261.2_5'UTR|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.A89T			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	89	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ACCTTCATGGCGTAGAGCTGC	0.502													17	85					0	0	0	0	T	166944753	C	T	166944753	3	4	95	1	0	0	0	0	1	0	0	0	13736	768	27	1	2012	1	RPS6KA2	6	166944753	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	12113554	166944753	4170314	57	18566											
ASNS	440	broad.mit.edu	37	chr7	97498327	97498327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaactaccgccaaccggtGaaatccaaagcagcagttgg	13	6	10	12	2	1	1	1	1	0	0	2	1	2	1	4	2	5	3	4	2	5	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr7:97498327G>C	ENST00000175506.4	-	4	670	c.142C>G	c.(142-144)Cac>Gac	p.H48D	ASNS_ENST00000422745.1_Missense_Mutation_p.H27D|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000394309.3_Missense_Mutation_p.H48D|ASNS_ENST00000444334.1_Missense_Mutation_p.H27D|ASNS_ENST00000394308.3_Missense_Mutation_p.H48D|ASNS_ENST00000455086.1_Intron	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	48	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCAACCGGTGAAATCCAAAG	0.448													13	49					0	0	0	0	C	97498327	G	C	97498327	3	2	95	1	0	0	0	0	1	0	0	0	1052	1290	45	2	1587	2	ASNS	7	97498327	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08		97498327	61640336	58	18567											
LAMB4	22798	broad.mit.edu	37	chr7	107696162	107696162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctttctatttcagacaCgttccctctgaggtctttga	8	16	6	11	1	4	3	1	2	3	1	6	3	6	3	2	1	0	1	2	1	2	5			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr7:107696162C>A	ENST00000388781.3	-	25	3753	c.3670G>T	c.(3670-3672)Gtg>Ttg	p.V1224L	LAMB4_ENST00000205386.4_Missense_Mutation_p.V1224L|LAMB4_ENST00000388780.3_Missense_Mutation_p.V1224L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1224	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATTTCAGACACGTTCCCTCTG	0.423													16	62					6.31663e-08	6.72154e-08	1	0	A	107696162	C	A	107696162	3	1	95	1	0	0	0	0	1	0	0	0	8666	536	19	3	1655	3	LAMB4	7	107696162	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	10197835	107696162	51442501	59	18568											
LAMB4	22798	broad.mit.edu	37	chr7	107696408	107696408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcggcacatgcctgtgtctgGatcacagatgggcttctggg	6	10	15	10	1	3	1	1	0	2	1	3	2	3	2	1	4	1	2	1	4	0	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr7:107696408G>A	ENST00000388781.3	-	25	3507	c.3424C>T	c.(3424-3426)Cca>Tca	p.P1142S	LAMB4_ENST00000205386.4_Missense_Mutation_p.P1142S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P1142S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1142	Laminin EGF-like 13.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCTGTGTCTGGATCACAGATG	0.532													8	36					0	0	0	0	A	107696408	G	A	107696408	3	1	95	1	0	0	0	0	1	0	0	0	8666	1174	41	2	1901	2	LAMB4	7	107696408	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	246	107696408	51442255	60	18569											
FAM110B	90362	broad.mit.edu	37	chr8	59059573	59059573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagcggtctaagtcaGacttgagtgacagatatttc	10	11	9	11	1	2	4	1	2	1	2	4	4	3	4	2	1	1	0	2	1	2	4			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr8:59059573G>T	ENST00000361488.3	+	5	1664	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	262						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GTCTAAGTCAGACTTGAGTGA	0.562													13	94					9.31168e-06	9.72163e-06	1	0	T	59059573	G	T	59059573	3	4	95	1	0	0	0	0	1	0	0	0	5438	942	33	2	786	2	FAM110B	8	59059573	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08		59059573	87304449	61	18570											
MAPK15	225689	broad.mit.edu	37	chr8	144802878	144802878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacggcagcccacaggccacGacagacgctggatgccctcc	9	3	11	18	3	0	1	0	0	0	1	1	3	1	2	4	3	2	2	4	3	0	0			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr8:144802878G>A	ENST00000338033.4	+	9	904	c.785G>A	c.(784-786)cGa>cAa	p.R262Q		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	262	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CACAGGCCACGACAGACGCTG	0.662													3	28					0	0	0	0	A	144802878	G	A	144802878	3	1	95	1	0	0	0	0	1	0	0	0	9346	1058	37	1	819	1	MAPK15	8	144802878	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	85743305	144802878	1561144	62	18571											
EXOSC4	54512	broad.mit.edu	37	chr8	145135305	145135305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccatgtggaggaagcagCtggtggcccccagctggccc	7	5	15	14	0	0	0	0	0	0	0	0	2	0	2	4	5	4	3	4	5	1	0			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr8:145135305C>T	ENST00000316052.5	+	3	642	c.539C>T	c.(538-540)gCt>gTt	p.A180V	EXOSC4_ENST00000525936.1_Silent_p.S137S	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	180					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGGAAGCAGCTGGTGGCCCC	0.657													7	64					0	0	0	0	T	145135305	C	T	145135305	3	4	95	1	0	0	0	0	1	0	0	0	5354	797	28	4	549	4	EXOSC4	8	145135305	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	332427	145135305	1228717	63	18572											
SMARCA2	6595	broad.mit.edu	37	chr9	2086833	2086833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttgtgttatagattcGgtggaaatacatgatagtgg	10	15	11	5	1	1	2	0	1	1	1	3	3	2	3	1	3	1	1	1	3	5	6			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:2086833G>A	ENST00000382203.1	+	18	2740	c.2531G>A	c.(2530-2532)cGg>cAg	p.R844Q	SMARCA2_ENST00000357248.2_Missense_Mutation_p.R844Q|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R844Q|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R844Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	844	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TTATAGATTCGGTGGAAATAC	0.468													15	56					0	0	0	0	A	2086833	G	A	2086833	3	1	95	1	0	0	0	0	1	0	0	0	14857	1116	39	1	2597	1	SMARCA2	9	2086833	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08		2086833	139126598	64	18573											
ZCCHC6	79670	broad.mit.edu	37	chr9	88925620	88925620	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagcctgaaaaaaatcttaCcaatgtgttatacaaactga	19	10	5	7	0	1	2	0	2	1	0	1	2	1	2	2	0	4	1	2	0	9	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:88925620C>T	ENST00000277141.6	-	19	3670		c.e19+1		ZCCHC6_ENST00000375963.3_Splice_Site|ZCCHC6_ENST00000375961.2_Splice_Site|ZCCHC6_ENST00000375960.2_Splice_Site|ZCCHC6_ENST00000375957.1_Splice_Site			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6						RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AAAAATCTTACCAATGTGTTA	0.353													4	21					0	0	0	0	T	88925620	C	T	88925620	5	4	95	1	0	0	0	0	0	0	1	0	17687	521	18	4	1148	4	ZCCHC6	9	88925620	Splice_Site	SNP	C	TCGA-CN-6016-01A-11D-1683-08	86838787	88925620	52287811	65	18574											
LPPR1	54886	broad.mit.edu	37	chr9	104071492	104071492	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgattttaaatcttcttataGgggtgtttgcatttggactt	8	20	9	4	0	2	1	0	1	2	0	2	2	2	2	0	3	1	2	0	3	4	8			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:104071492G>T	ENST00000374874.3	+	5	824		c.e5-1		LPPR1_ENST00000395056.2_Splice_Site	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN								integral to membrane	catalytic activity										TCTTCTTATAGGGGTGTTTGC	0.413													11	99					6.40141e-05	6.60021e-05	1	0	T	104071492	G	T	104071492	5	4	95	1	0	0	0	0	0	0	1	0	8988	1014	35	4	399	4	LPPR1	9	104071492	Splice_Site	SNP	G	TCGA-CN-6016-01A-11D-1683-08	15145872	104071492	37141939	66	18575											
LPPR1	54886	broad.mit.edu	37	chr9	104071519	104071519	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcatttggactttttgctActgacatttttgtaaacgcc	8	18	7	8	1	0	1	0	1	0	0	0	2	0	2	1	1	4	3	1	1	3	8			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:104071519A>T	ENST00000374874.3	+	5	851	c.412A>T	c.(412-414)Act>Tct	p.T138S	LPPR1_ENST00000395056.2_Missense_Mutation_p.T138S	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		138						integral to membrane	catalytic activity										ACTTTTTGCTACTGACATTTT	0.418													13	92					0	0	0	0	T	104071519	A	T	104071519	3	4	95	1	0	0	0	0	1	0	0	0	8988	391	14	5	426	5	LPPR1	9	104071519	Missense_Mutation	SNP	A	TCGA-CN-6016-01A-11D-1683-08	27	104071519	37141912	67	18576											
OR1N1	138883	broad.mit.edu	37	chr9	125289435	125289435	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcaggtcagagccaatGgccaggatgatgagcaggtt	11	7	16	7	0	1	3	1	2	0	1	1	4	1	4	2	5	3	3	2	5	1	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:125289435G>A	ENST00000304880.2	-	1	137	c.138C>T	c.(136-138)gcC>gcT	p.A46A		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CAGAGCCAATGGCCAGGATGA	0.502													5	36					0	0	0	0	A	125289435	G	A	125289435	2	1	95	1	0	0	0	0	0	0	0	1	11040	1335	47	4		4	OR1N1	9	125289435	Silent	SNP	G	TCGA-CN-6016-01A-11D-1683-08	21217916	125289435	15923996	68	18577											
SURF2	6835	broad.mit.edu	37	chr9	136226921	136226921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatggacggtgacgggcctCgcccgcgggaagccttctgg	6	6	17	12	5	1	2	0	1	1	1	2	4	1	4	3	5	1	0	3	5	1	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:136226921C>T	ENST00000371964.4	+	4	474	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN	surfeit 2	145							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		TGACGGGCCTCGCCCGCGGGA	0.627													4	15					0	0	0	0	T	136226921	C	T	136226921	3	4	95	1	0	0	0	0	1	0	0	0	15494	884	31	1	447	1	SURF2	9	136226921	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	10937486	136226921	4986510	69	18578											
NOTCH1	4851	broad.mit.edu	37	chr9	139401405	139401405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggattgcagtcgtccaCgttgatctcacagtgcacac	8	9	13	11	2	1	1	1	1	1	0	4	2	2	2	1	3	2	3	1	3	0	2	rs112900950		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:139401405C>T	ENST00000277541.6	-	23	3739	c.3664G>A	c.(3664-3666)Gtg>Atg	p.V1222M		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1222	EGF-like 32; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGTCGTCCACGTTGATCTCA	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			4	13					0	0	0	0	T	139401405	C	T	139401405	3	4	95	1	0	0	0	0	1	0	0	0	10617	536	19	1	4051	1	NOTCH1	9	139401405	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	3174484	139401405	1812026	70	18579											
PCDH15	65217	broad.mit.edu	37	chr10	55700733	55700733	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagttcacttactggaggaGgtctgcaggtttagagaaga	12	10	13	6	0	2	2	1	0	1	2	2	5	2	4	0	4	2	3	0	4	4	4			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:55700733G>C	ENST00000373965.2	-	25	3540	c.3146C>G	c.(3145-3147)cCt>cGt	p.P1049R	PCDH15_ENST00000395433.1_Missense_Mutation_p.P1020R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1049R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1005R|PCDH15_ENST00000409834.1_Missense_Mutation_p.P653R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1042R|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1042R|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1047R|PCDH15_ENST00000437009.1_Missense_Mutation_p.P971R|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1042R|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1042R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1042	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TACTGGAGGAGGTCTGCAGGT	0.348										HNSCC(58;0.16)			5	21					0	0	0	0	C	55700733	G	C	55700733	3	2	95	1	0	0	0	0	1	0	0	0	11582	1000	35	4	4401	4	PCDH15	10	55700733	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08		55700733	79834014	71	18580											
TACR2	6865	broad.mit.edu	37	chr10	71166838	71166838	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggctggagtgggggctcAcctgtggttgagacagcagt	6	9	19	7	0	1	1	1	1	0	1	1	3	1	2	1	6	1	4	1	6	0	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:71166838A>G	ENST00000373306.4	-	4	1482		c.e4+1		TACR2_ENST00000373307.1_Splice_Site	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2						excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GTGGGGGCTCACCTGTGGTTG	0.602													8	56					0	0	0	0	G	71166838	A	G	71166838	5	3	95	1	0	0	0	0	0	0	1	0	15597	173	6	5	264	5	TACR2	10	71166838	Splice_Site	SNP	A	TCGA-CN-6016-01A-11D-1683-08	15466105	71166838	64367909	72	18581											
RGR	5995	broad.mit.edu	37	chr10	86014100	86014100	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaacttcaccagcttcctCttcaccatgtccttcttcaa	10	13	3	15	0	5	1	3	0	2	1	7	1	7	1	4	0	2	1	4	0	2	5			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:86014100C>G	ENST00000359452.4	+	5	581	c.543C>G	c.(541-543)ctC>ctG	p.L181L	RGR_ENST00000358110.5_Silent_p.L177L	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	177					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CCAGCTTCCTCTTCACCATGT	0.562													7	68					0	0	0	0	G	86014100	C	G	86014100	2	3	95	1	0	0	0	0	0	0	0	1	13374	900	32	2		2	RGR	10	86014100	Silent	SNP	C	TCGA-CN-6016-01A-11D-1683-08	14847262	86014100	49520647	73	18582											
PDZD8	118987	broad.mit.edu	37	chr10	119049706	119049706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcataattacctccaatggCgataagtcgatctccccgct	11	10	7	13	3	1	0	0	0	1	0	4	2	2	0	4	1	2	2	4	1	4	3	rs150304837		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:119049706C>T	ENST00000334464.5	-	4	1491	c.1252G>A	c.(1252-1254)Gcc>Acc	p.A418T	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	418	PDZ.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CCTCCAATGGCGATAAGTCGA	0.423													13	47					0	0	0	0	T	119049706	C	T	119049706	3	4	95	1	0	0	0	0	1	0	0	0	11776	768	27	1	2220	1	PDZD8	10	119049706	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	33035606	119049706	16485041	74	18583											
GRK5	2869	broad.mit.edu	37	chr10	121156241	121156241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tactccagatgaaaaactggGagagaaagggaaggaaatta	19	6	12	4	0	0	3	0	1	0	2	1	7	1	6	1	3	2	0	1	3	7	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:121156241G>A	ENST00000392870.2	+	4	625	c.296G>A	c.(295-297)gGa>gAa	p.G99E	GRK5_ENST00000369108.3_5'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	99	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GAAAAACTGGGAGAGAAAGGG	0.423													13	75					0	0	0	0	A	121156241	G	A	121156241	3	1	95	1	0	0	0	0	1	0	0	0	6842	1174	41	2	310	2	GRK5	10	121156241	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	2106535	121156241	14378506	75	18584											
RIC8A	60626	broad.mit.edu	37	chr11	209868	209868	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaactgacacactggagctGacgctgggggtgactcctga	9	8	13	11	1	0	4	0	4	0	0	1	5	1	5	1	3	2	2	1	3	1	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:209868G>A	ENST00000526104.1	+	3	1938	c.594G>A	c.(592-594)ctG>ctA	p.L198L	RIC8A_ENST00000527696.1_Silent_p.L192L|RIC8A_ENST00000325207.5_Silent_p.L198L			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	198						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACTGGAGCTGACGCTGGGGG	0.597													12	47					0	0	0	0	A	209868	G	A	209868	2	1	95	1	0	0	0	0	0	0	0	1	13438	1277	45	2		2	RIC8A	11	209868	Silent	SNP	G	TCGA-CN-6016-01A-11D-1683-08		209868	134796648	76	18585											
PDDC1	347862	broad.mit.edu	37	chr11	773582	773582	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactgctggccaggtcggTcagggccccaggacagctgg	6	5	16	14	1	1	0	1	0	0	0	2	1	1	1	4	6	2	2	4	6	0	0			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:773582T>C	ENST00000319863.8	-	4	316	c.295A>G	c.(295-297)Acc>Gcc	p.T99A	PDDC1_ENST00000526325.1_Missense_Mutation_p.T99A|PDDC1_ENST00000442059.2_Missense_Mutation_p.T49A|PDDC1_ENST00000524550.1_Intron|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000397472.2_Missense_Mutation_p.T99A	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	99						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCAGGTCGGTCAGGGCCCCA	0.637													3	21					0	0	0	0	C	773582	T	C	773582	3	2	95	1	0	0	0	0	1	0	0	0	11700	1667	58	5	387	5	PDDC1	11	773582	Missense_Mutation	SNP	T	TCGA-CN-6016-01A-11D-1683-08	563714	773582	134232934	77	18586											
MUC5B	727897	broad.mit.edu	37	chr11	1268491	1268491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacacgggcggtccctgcccCccagcagtccccacacggtg	6	4	11	20	3	0	0	0	0	0	0	2	0	2	0	6	3	2	1	6	3	0	0			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:1268491C>A	ENST00000447027.1	+	31	10448	c.10390C>A	c.(10390-10392)Ccc>Acc	p.P3464T	MUC5B_ENST00000529681.1_Missense_Mutation_p.P3461T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3461	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTCCCTGCCCCCCAGCAGTCC	0.672													3	56					1	1	1	0	A	1268491	C	A	1268491	3	1	95	1	0	0	0	0	1	0	0	0	10049	623	22	4	10512	4	MUC5B	11	1268491	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	494909	1268491	133738025	78	18587											
MUC15	143662	broad.mit.edu	37	chr11	26587071	26587071	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaacaaagctatggatcAagggagggcttgtggaaatg	15	8	14	4	0	1	1	1	0	0	1	1	4	1	4	0	4	2	2	0	4	6	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:26587071A>G	ENST00000436318.2	-	2	549	c.416T>C	c.(415-417)tTg>tCg	p.L139S	MUC15_ENST00000529533.1_Missense_Mutation_p.L139S|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.L139S|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.L139S|MUC15_ENST00000455601.2_Missense_Mutation_p.L112S			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	112						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GCTATGGATCAAGGGAGGGCT	0.453													6	93					0	0	0	0	G	26587071	A	G	26587071	3	3	95	1	0	0	0	0	1	0	0	0	10042	131	5	5	681	5	MUC15	11	26587071	Missense_Mutation	SNP	A	TCGA-CN-6016-01A-11D-1683-08	25318580	26587071	108419445	79	18588											
ARHGAP1	392	broad.mit.edu	37	chr11	46702656	46702656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcttctgcccgaacttGaagctgttggtggaagaaag	12	10	12	7	1	2	3	0	1	2	2	2	5	2	4	1	2	3	2	1	2	5	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:46702656G>T	ENST00000311956.4	-	7	637	c.540C>A	c.(538-540)ttC>ttA	p.F180L		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	180	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GCCCGAACTTGAAGCTGTTGG	0.602													4	42					0.00909568	0.0092066	1	0	T	46702656	G	T	46702656	3	4	95	1	0	0	0	0	1	0	0	0	863	1281	45	2	807	2	ARHGAP1	11	46702656	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	20115585	46702656	88303860	80	18589											
CKAP5	9793	broad.mit.edu	37	chr11	46771969	46771969	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatttcttcttatattcataTaactctgctagtccctggtg	8	19	5	9	0	4	0	1	0	3	0	5	0	5	0	1	1	2	1	1	1	6	9			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:46771969T>C	ENST00000529230.1	-	42	5605	c.5559A>G	c.(5557-5559)ttA>ttG	p.L1853L	CKAP5_ENST00000415402.1_Silent_p.L1860L|CKAP5_ENST00000354558.3_Silent_p.L1793L|CKAP5_ENST00000312055.5_Silent_p.L1793L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1853					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TATATTCATATAACTCTGCTA	0.428													15	51					0	0	0	0	C	46771969	T	C	46771969	2	2	95	1	0	0	0	0	0	0	0	1	3475	1403	49	5		5	CKAP5	11	46771969	Silent	SNP	T	TCGA-CN-6016-01A-11D-1683-08	69313	46771969	88234547	81	18590											
MADD	8567	broad.mit.edu	37	chr11	47305742	47305742	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgcagtggcagtgatagtAtggattatgacgattcaagc	11	12	12	6	1	2	2	1	2	1	0	2	4	2	3	0	2	2	3	0	2	4	4			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:47305742A>G	ENST00000342922.4	+	11	2233	c.1876A>G	c.(1876-1878)Atg>Gtg	p.M626V	MADD_ENST00000407859.3_Missense_Mutation_p.M626V|MADD_ENST00000406482.1_Missense_Mutation_p.M626V|MADD_ENST00000311027.5_Missense_Mutation_p.M626V|MADD_ENST00000402799.1_Missense_Mutation_p.M626V|MADD_ENST00000402192.2_Missense_Mutation_p.M626V|MADD_ENST00000395336.3_Missense_Mutation_p.M626V|MADD_ENST00000395344.3_Missense_Mutation_p.M626V|MADD_ENST00000349238.3_Missense_Mutation_p.M626V	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	626					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAGTGATAGTATGGATTATGA	0.423													16	93					0	0	0	0	G	47305742	A	G	47305742	3	3	95	1	0	0	0	0	1	0	0	0	9217	449	16	5	1914	5	MADD	11	47305742	Missense_Mutation	SNP	A	TCGA-CN-6016-01A-11D-1683-08	533773	47305742	87700774	82	18591											
RCOR2	283248	broad.mit.edu	37	chr11	63681511	63681511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctgacactgccgtgaggCcttcagggctcaggtacatg	7	10	12	12	1	2	2	2	2	0	0	3	2	3	2	3	3	2	2	3	3	1	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:63681511C>T	ENST00000301459.4	-	8	1193	c.806G>A	c.(805-807)gGc>gAc	p.G269D		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TGCCGTGAGGCCTTCAGGGCT	0.642													17	129					0	0	0	0	T	63681511	C	T	63681511	3	4	95	1	0	0	0	0	1	0	0	0	13265	739	26	4	785	4	RCOR2	11	63681511	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	16375769	63681511	71325005	83	18592											
UVRAG	7405	broad.mit.edu	37	chr11	75826972	75826972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttcaccttcacagctaaGatatcaacatggactaggga	13	12	7	9	0	3	1	3	0	0	1	3	3	3	3	1	2	2	1	1	2	4	6			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:75826972G>A	ENST00000356136.3	+	14	1551	c.1310G>A	c.(1309-1311)aGa>aAa	p.R437K	UVRAG_ENST00000533454.1_Missense_Mutation_p.R65K|UVRAG_ENST00000528420.1_Missense_Mutation_p.R336K|UVRAG_ENST00000532130.1_Missense_Mutation_p.R65K|UVRAG_ENST00000539288.1_Missense_Mutation_p.R65K|UVRAG_ENST00000538870.1_5'UTR|UVRAG_ENST00000531818.1_Missense_Mutation_p.R65K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	437					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TCACAGCTAAGATATCAACAT	0.373													5	25					0	0	0	0	A	75826972	G	A	75826972	3	1	95	1	0	0	0	0	1	0	0	0	17204	942	33	2	1364	2	UVRAG	11	75826972	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	12145461	75826972	59179544	84	18593											
NOX4	50507	broad.mit.edu	37	chr11	89223667	89223667	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatactctggcccttggtTatacagcaagaaggttttcc	9	13	10	9	0	1	2	0	1	1	1	2	2	2	2	2	3	3	3	2	3	5	6			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:89223667T>C	ENST00000527626.1	-	0	193				NOX4_ENST00000534731.1_Missense_Mutation_p.N38D|NOX4_ENST00000393282.2_Missense_Mutation_p.N38D|NOX4_ENST00000532825.1_Missense_Mutation_p.N14D|NOX4_ENST00000542487.1_Missense_Mutation_p.N14D|NOX4_ENST00000413594.2_Missense_Mutation_p.N59D|NOX4_ENST00000424319.1_Missense_Mutation_p.N14D|NOX4_ENST00000527956.1_Missense_Mutation_p.N14D|NOX4_ENST00000528341.1_Intron|NOX4_ENST00000343727.5_Missense_Mutation_p.N14D|NOX4_ENST00000525196.1_Missense_Mutation_p.N38D|NOX4_ENST00000531342.1_Missense_Mutation_p.N38D|NOX4_ENST00000375979.3_Missense_Mutation_p.N38D|NOX4_ENST00000263317.4_Missense_Mutation_p.N38D|NOX4_ENST00000535633.1_Missense_Mutation_p.N14D			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|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)				GGCCCTTGGTTATACAGCAAG	0.418													15	63					0	0	0	0	C	89223667	T	C	89223667	1	2	95	1	0	0	0	0	0	0	0	0	10628	1754	61	5		5	NOX4	11	89223667	Translation_Start_Site	SNP	T	TCGA-CN-6016-01A-11D-1683-08	13396695	89223667	45782849	85	18594											
ZW10	9183	broad.mit.edu	37	chr11	113639609	113639609	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagatagcttatccacCtgggtaatcaggccctgcgc	8	11	9	13	1	3	1	2	0	1	1	4	1	4	1	3	2	2	2	3	2	3	4			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:113639609C>T	ENST00000200135.3	-	2	330	c.186G>A	c.(184-186)caG>caA	p.Q62Q		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	62	Interaction with RINT1.|Interaction with ZWINT.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GCTTATCCACCTGGGTAATCA	0.433													11	91					0	0	0	0	T	113639609	C	T	113639609	2	4	95	1	0	0	0	0	0	0	0	1	18338	680	24	4		4	ZW10	11	113639609	Silent	SNP	C	TCGA-CN-6016-01A-11D-1683-08	24415942	113639609	21366907	86	18595											
RNF214	257160	broad.mit.edu	37	chr11	117109781	117109781	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtggatcaggatgatgAtcaagatagctcttccctga	11	10	11	9	1	3	4	2	3	1	1	4	7	4	6	2	2	1	1	2	2	2	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:117109781A>T	ENST00000531452.1	+	3	618	c.572A>T	c.(571-573)gAt>gTt	p.D191V	RNF214_ENST00000531287.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.D191V|RNF214_ENST00000530849.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	191							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CAGGATGATGATCAAGATAGC	0.468													13	75					0	0	0	0	T	117109781	A	T	117109781	3	4	95	1	0	0	0	0	1	0	0	0	13563	333	12	5	578	5	RNF214	11	117109781	Missense_Mutation	SNP	A	TCGA-CN-6016-01A-11D-1683-08	3470172	117109781	17896735	87	18596											
VWF	7450	broad.mit.edu	37	chr12	6078430	6078430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacagctcagctgaaagcccGaggggcagacagggacctcc	11	4	13	13	1	1	2	1	1	0	1	2	4	2	3	3	3	4	3	3	3	2	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:6078430G>A	ENST00000261405.5	-	45	7930	c.7676C>T	c.(7675-7677)tCg>tTg	p.S2559L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2559					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.S2559L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGAAAGCCCGAGGGGCAGAC	0.592													4	49					0	0	0	0	A	6078430	G	A	6078430	3	1	95	1	0	0	0	0	1	0	0	0	17342	1059	37	1	797	1	VWF	12	6078430	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08		6078430	127773465	88	18597											
CLEC4E	26253	broad.mit.edu	37	chr12	8687355	8687355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgaagagtctctcatggtgGcacagtcctccagggtagct	8	11	12	10	0	2	2	1	1	1	1	5	2	4	2	2	3	1	3	2	3	2	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:8687355G>A	ENST00000299663.3	-	6	704	c.539C>T	c.(538-540)gCc>gTc	p.A180V	CLEC4E_ENST00000545274.1_Missense_Mutation_p.A135V|CLEC4E_ENST00000446457.2_3'UTR	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	180	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TCTCATGGTGGCACAGTCCTC	0.413													18	55					0	0	0	0	A	8687355	G	A	8687355	3	1	95	1	0	0	0	0	1	0	0	0	3545	1203	42	4	124	4	CLEC4E	12	8687355	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	2608925	8687355	125164540	89	18598											
SOAT2	8435	broad.mit.edu	37	chr12	53516967	53516967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcgtcctggggttcttctatCccgtcatgctgatactcttc	4	16	8	13	2	4	1	1	1	3	0	8	1	6	1	2	2	2	2	2	2	2	5			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:53516967C>T	ENST00000301466.3	+	13	1399	c.1339C>T	c.(1339-1341)Ccc>Tcc	p.P447S		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	447					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GTTCTTCTATCCCGTCATGCT	0.592													11	52					0	0	0	0	T	53516967	C	T	53516967	3	4	95	1	0	0	0	0	1	0	0	0	14999	855	30	2	1389	2	SOAT2	12	53516967	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	44829612	53516967	80334928	90	18599											
MBD6	114785	broad.mit.edu	37	chr12	57920022	57920022	+	Frame_Shift_Del	DEL	C	C	-																															actccccacccctggcccttCccactctgatggaagcttta																										TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:57920022delC	ENST00000355673.3	+	6	1627	c.1271delC	c.(1270-1272)tcfs	p.S424fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.S424fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	424	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTGGCCCTTCCCACTCTGAT	0.627													12	102	---	---	---	---					-	57920022	C	-	57920022	7	5	95	1	0	1	0	1	0	0	0	0	9417	855	30	0	1285	0	MBD6	12	57920022	Frame_Shift_Del	DEL	C	TCGA-CN-6016-01A-11D-1683-08	4403055	57920022	75931873	91	18600											
USP15	9958	broad.mit.edu	37	chr12	62785134	62785134	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattccagttcaacaacttaGgcaatactgatatcaactac	15	11	4	11	0	2	1	2	1	0	0	3	1	3	1	1	1	5	2	1	1	8	6	rs7358652		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:62785134G>C	ENST00000280377.5	+	16	2216	c.2158G>C	c.(2158-2160)Ggc>Cgc	p.G720R	USP15_ENST00000353364.3_Missense_Mutation_p.G691R|USP15_ENST00000393654.3_Missense_Mutation_p.G695R	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	720					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CAACAACTTAGGCAATACTGA	0.358													12	83					0	0	0	0	C	62785134	G	C	62785134	3	2	95	1	0	0	0	0	1	0	0	0	17142	1000	35	4	2129	4	USP15	12	62785134	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	4865112	62785134	71066761	92	18601											
DCLK1	9201	broad.mit.edu	37	chr13	36700050	36700050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaaccggtctggggagatGgcatacacaatccctttgaa	11	8	12	10	2	1	2	0	1	1	1	2	4	2	3	2	5	2	1	2	5	4	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr13:36700050G>A	ENST00000255448.4	-	2	436	c.225C>T	c.(223-225)gcC>gcT	p.A75A	DCLK1_ENST00000360631.3_Silent_p.A75A|DCLK1_ENST00000379892.4_Silent_p.A75A	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	75	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTGGGGAGATGGCATACACAA	0.527													12	56					0	0	0	0	A	36700050	G	A	36700050	2	1	95	1	0	0	0	0	0	0	0	1	4323	1335	47	4		4	DCLK1	13	36700050	Silent	SNP	G	TCGA-CN-6016-01A-11D-1683-08		36700050	78469828	93	18602											
F7	2155	broad.mit.edu	37	chr13	113773175	113773175	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccggggcacgtggtacctGacgggcatcgtcagctgggg	6	7	17	11	4	1	1	1	1	0	0	2	1	1	1	2	6	3	4	2	6	2	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr13:113773175G>A	ENST00000375581.3	+	9	1289	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	F7_ENST00000346342.3_Silent_p.L396L|F7_ENST00000541084.1_Silent_p.L349L	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	418	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGTGGTACCTGACGGGCATCG	0.627													8	18					0	0	0	0	A	113773175	G	A	113773175	2	1	95	1	0	0	0	0	0	0	0	1	5387	1277	45	2		2	F7	13	113773175	Silent	SNP	G	TCGA-CN-6016-01A-11D-1683-08	77073125	113773175	1396703	94	18603											
PRMT5	10419	broad.mit.edu	37	chr14	23397351	23397351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccgcctcggagttcctgCgaatcttctccacttttgag	6	14	8	13	3	2	1	0	1	2	0	5	3	3	2	4	1	2	1	4	1	2	5			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr14:23397351C>T	ENST00000324366.8	-	3	522	c.299G>A	c.(298-300)cGc>cAc	p.R100H	PRMT5_ENST00000397440.4_Missense_Mutation_p.R83H|PRMT5_ENST00000216350.8_Intron|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000553897.1_Intron|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000397441.2_Missense_Mutation_p.R83H	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	100					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GGAGTTCCTGCGAATCTTCTC	0.498													5	40					0	0	0	0	T	23397351	C	T	23397351	3	4	95	1	0	0	0	0	1	0	0	0	12619	768	27	1	1674	1	PRMT5	14	23397351	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08		23397351	83952189	95	18604											
NIN	51199	broad.mit.edu	37	chr14	51192739	51192739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcagtttctgttcaacttCtatcattcgttcctccatga	7	19	4	11	1	5	1	3	1	2	0	8	1	7	1	2	0	1	3	2	0	2	7			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr14:51192739C>T	ENST00000245441.5	-	30	6314	c.6124G>A	c.(6124-6126)Gaa>Aaa	p.E2042K	NIN_ENST00000530997.2_Missense_Mutation_p.E2042K|NIN_ENST00000382041.3_Missense_Mutation_p.E2042K|NIN_ENST00000382043.4_Missense_Mutation_p.E1329K|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000324330.9_3'UTR	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2042					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTTCAACTTCTATCATTCGT	0.413			T	PDGFRB	MPD								11	66					0	0	0	0	T	51192739	C	T	51192739	3	4	95	1	0	0	0	0	1	0	0	0	10487	922	32	2	366	2	NIN	14	51192739	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	27795388	51192739	56156801	96	18605											
NID2	22795	broad.mit.edu	37	chr14	52520909	52520909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggctgtagcatggctgaAggaacgtcccaggggaacag	11	5	16	9	1	0	1	0	1	0	0	1	3	1	3	1	5	3	4	1	5	4	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr14:52520909A>G	ENST00000216286.5	-	4	897	c.898T>C	c.(898-900)Ttc>Ctc	p.F300L	NID2_ENST00000541773.1_Missense_Mutation_p.F247L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	300						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCATGGCTGAAGGAACGTCCC	0.517													6	17					0	0	0	0	G	52520909	A	G	52520909	3	3	95	1	0	0	0	0	1	0	0	0	10485	72	3	5	3305	5	NID2	14	52520909	Missense_Mutation	SNP	A	TCGA-CN-6016-01A-11D-1683-08	1328170	52520909	54828631	97	18606											
DYNC1H1	1778	broad.mit.edu	37	chr14	102452228	102452228	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaagaggtacgatgagAggatcgacagagtggagacc	14	6	15	6	2	0	5	0	2	0	4	1	10	0	6	1	3	1	1	1	3	3	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr14:102452228A>T	ENST00000360184.4	+	8	1830	c.1666A>T	c.(1666-1668)Agg>Tgg	p.R556W		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	556	Interaction with DYNC1I2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTACGATGAGAGGATCGACAG	0.512													12	35					0	0	0	0	T	102452228	A	T	102452228	3	4	95	1	0	0	0	0	1	0	0	0	4877	295	11	5	1696	5	DYNC1H1	14	102452228	Missense_Mutation	SNP	A	TCGA-CN-6016-01A-11D-1683-08	49931319	102452228	4897312	98	18607											
SPESP1	246777	broad.mit.edu	37	chr15	69238891	69238891	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaaaaaatatgtgtagaTcaaggagagtcacagcctta	17	10	8	6	0	2	2	2	0	0	2	2	3	2	2	1	1	1	1	1	1	7	4			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr15:69238891T>C	ENST00000310673.3	+	2	1172	c.1018T>C	c.(1018-1020)Tca>Cca	p.S340P	NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	340					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TATGTGTAGATCAAGGAGAGT	0.274													10	40					0	0	0	0	C	69238891	T	C	69238891	3	2	95	1	0	0	0	0	1	0	0	0	15130	1435	50	5	1024	5	SPESP1	15	69238891	Missense_Mutation	SNP	T	TCGA-CN-6016-01A-11D-1683-08		69238891	33292501	99	18608											
SNRPA1	6627	broad.mit.edu	37	chr15	101821964	101821964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactgtgtcttcttccatctCttcttcaccatcatcagtgg	6	16	6	13	0	7	0	3	0	4	0	9	1	8	0	2	1	0	0	2	1	0	4			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr15:101821964C>T	ENST00000254193.6	-	9	805	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	245						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTTCCATCTCTTCTTCACCA	0.418													12	37					0	0	0	0	T	101821964	C	T	101821964	3	4	95	1	0	0	0	0	1	0	0	0	14948	922	32	2	38	2	SNRPA1	15	101821964	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	32583073	101821964	709428	100	18609											
ZNF598	90850	broad.mit.edu	37	chr16	2052728	2052728	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccacttgcgctcatatgtGaagatctacaaggcacagga	13	9	9	10	1	2	2	1	1	1	1	2	3	2	3	1	2	3	2	1	2	5	4			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:2052728G>A	ENST00000563630.1	-	4	548	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ZNF598_ENST00000431526.1_Silent_p.F157F|ZNF598_ENST00000562103.1_Silent_p.F102F			Q86UK7	ZN598_HUMAN	zinc finger protein 598	157						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCTCATATGTGAAGATCTACA	0.657													3	10					0	0	0	0	A	2052728	G	A	2052728	2	1	95	1	0	0	0	0	0	0	0	1	18123	1281	45	2		2	ZNF598	16	2052728	Silent	SNP	G	TCGA-CN-6016-01A-11D-1683-08		2052728	88302025	101	18610											
XYLT1	64131	broad.mit.edu	37	chr16	17221565	17221565	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtcactgggtgggcttgcGatcttgaagacttttttcgg	7	14	13	7	2	2	2	1	1	1	1	3	3	2	2	0	3	1	1	0	3	2	5	rs112238716		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:17221565G>A	ENST00000261381.6	-	10	2265	c.2181C>T	c.(2179-2181)atC>atT	p.I727I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	727					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGGGCTTGCGATCTTGAAGA	0.493													28	145					0	0	0	0	A	17221565	G	A	17221565	2	1	95	1	0	0	0	0	0	0	0	1	17559	1048	37	1		1	XYLT1	16	17221565	Silent	SNP	G	TCGA-CN-6016-01A-11D-1683-08	15168837	17221565	73133188	102	18611											
SMG1	23049	broad.mit.edu	37	chr16	18840717	18840717	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttccaggcagtgtcgtaaGaacttgctaacacagttgcc	10	11	9	11	1	1	1	0	0	1	1	3	1	2	1	2	1	4	4	2	1	3	5			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:18840717G>C	ENST00000446231.2	-	54	9906	c.9494C>G	c.(9493-9495)tCt>tGt	p.S3165C	SMG1_ENST00000389467.3_Missense_Mutation_p.S3165C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3165					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTGTCGTAAGAACTTGCTAA	0.463													3	41					0	0	0	0	C	18840717	G	C	18840717	3	2	95	1	0	0	0	0	1	0	0	0	14883	942	33	2	1531	2	SMG1	16	18840717	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	1619152	18840717	71514036	103	18612											
NUPR1	26471	broad.mit.edu	37	chr16	28549476	28549476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacctttccggcctccacctCctgtaaccaaggcaggagtc	8	8	9	16	1	0	0	0	0	0	0	4	2	3	1	7	3	1	2	7	3	2	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:28549476C>T	ENST00000395641.2	-	2	267	c.167G>A	c.(166-168)gGa>gAa	p.G56E	NUPR1_ENST00000324873.6_Splice_Site_p.G38_splice			O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	38					cell growth|induction of apoptosis	nucleus				breast(1)|large_intestine(1)|lung(1)	3						GCCTCCACCTCCTGTAACCAA	0.612													18	103					0	0	0	0	T	28549476	C	T	28549476	3	4	95	1	0	0	0	0	1	0	0	0	10847	869	30	2	139	2	NUPR1	16	28549476	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	9708759	28549476	61805277	104	18613											
SALL1	6299	broad.mit.edu	37	chr16	51175973	51175973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcagaagatctgataattCaaagaactcggcacagcacc	16	6	9	10	1	2	4	1	1	1	3	3	5	2	4	1	1	3	3	1	1	4	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:51175973C>T	ENST00000251020.4	-	2	193	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	54					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTGATAATTCAAAGAACTCG	0.458													20	119					0	0	0	0	T	51175973	C	T	51175973	3	4	95	1	0	0	0	0	1	0	0	0	13895	835	29	2	3822	2	SALL1	16	51175973	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	22626497	51175973	39178780	105	18614											
HAS3	3038	broad.mit.edu	37	chr16	69148735	69148735	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggccgcatctggaacattCtcctcttcctgctgacggtg	5	11	12	13	2	3	1	0	1	3	0	5	2	4	2	3	4	2	2	3	4	1	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:69148735C>G	ENST00000306560.1	+	4	1384	c.1228C>G	c.(1228-1230)Ctc>Gtc	p.L410V	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.L410V	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	410					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CTGGAACATTCTCCTCTTCCT	0.547													4	94					0	0	0	0	G	69148735	C	G	69148735	3	3	95	1	0	0	0	0	1	0	0	0	7013	913	32	2	1238	2	HAS3	16	69148735	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	17972762	69148735	21206018	106	18615											
MARVELD3	91862	broad.mit.edu	37	chr16	71674673	71674673	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtttacctccacgtggctCtgcagatcaatagcaccgac	9	10	9	13	2	2	1	1	0	1	1	3	2	3	1	3	1	3	4	3	1	3	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:71674673C>T	ENST00000299952.4	+	3	1019	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	329	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CCACGTGGCTCTGCAGATCAA	0.587													4	48					0	0	0	0	T	71674673	C	T	71674673	2	4	95	1	0	0	0	0	0	0	0	1	9388	912	32	2		2	MARVELD3	16	71674673	Silent	SNP	C	TCGA-CN-6016-01A-11D-1683-08	2525938	71674673	18680080	107	18616											
CHST6	4166	broad.mit.edu	37	chr16	75513583	75513583	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacgagcccgagcgccaCgaggacagcaccagcacatg	13	1	13	14	4	0	0	0	0	0	0	0	5	0	2	3	2	4	2	3	2	1	0			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:75513583C>T	ENST00000332272.4	-	3	323	c.144G>A	c.(142-144)tcG>tcA	p.S48S	CHST6_ENST00000390664.2_Silent_p.S48S|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	48					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCGAGCGCCACGAGGACAGCA	0.672													3	21					0	0	0	0	T	75513583	C	T	75513583	2	4	95	1	0	0	0	0	0	0	0	1	3437	523	19	1		1	CHST6	16	75513583	Silent	SNP	C	TCGA-CN-6016-01A-11D-1683-08	3838910	75513583	14841170	108	18617											
OR3A1	4994	broad.mit.edu	37	chr17	3195220	3195220	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgccacgtggatataggaGatgacaatgagagccatggg	12	7	15	7	1	0	3	0	2	0	2	0	6	0	4	2	3	2	1	2	3	3	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:3195220G>C	ENST00000323404.1	-	1	656	c.657C>G	c.(655-657)atC>atG	p.I219M	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGATATAGGAGATGACAATGA	0.537													12	26					0	0	0	0	C	3195220	G	C	3195220	3	2	95	1	0	0	0	0	1	0	0	0	11108	932	33	2	294	2	OR3A1	17	3195220	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08		3195220	77999990	109	18618											
TRPV3	162514	broad.mit.edu	37	chr17	3417907	3417907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcgtcttacaggccccGggtcttcgttaaggaaggag	7	11	13	10	3	2	0	0	0	2	0	4	2	2	2	2	4	1	2	2	4	3	4			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:3417907G>A	ENST00000301365.4	-	17	2389	c.2258C>T	c.(2257-2259)cCg>cTg	p.P753L	TRPV3_ENST00000572519.1_Missense_Mutation_p.P753L|TRPV3_ENST00000576742.1_Missense_Mutation_p.P753L			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	753						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TACAGGCCCCGGGTCTTCGTT	0.498													7	25					0	0	0	0	A	3417907	G	A	3417907	3	1	95	1	0	0	0	0	1	0	0	0	16692	1116	39	1	122	1	TRPV3	17	3417907	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	222687	3417907	77777303	110	18619											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	39					0	0	0	0	T	7577548	C	T	7577548	3	4	95	1	0	0	0	0	1	0	0	0	16476	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	4159641	7577548	73617662	111	18620											
RAB34	83871	broad.mit.edu	37	chr17	27042864	27042864	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcaaatcgttccatctCgaagtccactccaatggtgg	10	10	7	14	2	2	0	1	0	1	0	7	1	5	0	4	2	0	1	4	2	3	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:27042864C>A	ENST00000395245.3	-	4	894	c.268G>T	c.(268-270)Gag>Tag	p.E90*	RAB34_ENST00000395243.3_Nonsense_Mutation_p.E90*|RAB34_ENST00000301043.6_Nonsense_Mutation_p.E90*|RAB34_ENST00000450529.1_Nonsense_Mutation_p.E90*|RAB34_ENST00000436730.3_Nonsense_Mutation_p.E90*|RAB34_ENST00000447716.1_Nonsense_Mutation_p.E147*|RAB34_ENST00000395242.2_Nonsense_Mutation_p.E91*|RAB34_ENST00000415040.2_Nonsense_Mutation_p.E68*|RAB34_ENST00000453384.3_Nonsense_Mutation_p.E148*	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	90					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	p.E90*(1)|p.E148*(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CGTTCCATCTCGAAGTCCACT	0.547													29	105					1.80694e-10	1.93518e-10	1	0	A	27042864	C	A	27042864	4	1	95	1	0	0	0	0	0	1	0	0	13006	893	31	3	603	3	RAB34	17	27042864	Nonsense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	19465316	27042864	54152346	112	18621											
GPR179	440435	broad.mit.edu	37	chr17	36483161	36483161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcctcagaactgcctctGcttctgtcagaagcatctgg	7	11	10	13	0	5	2	2	0	3	2	5	2	5	2	2	1	5	3	2	1	2	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:36483161G>A	ENST00000342292.4	-	11	6311	c.6291C>T	c.(6289-6291)agC>agT	p.S2097S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2097						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AACTGCCTCTGCTTCTGTCAG	0.582													13	73					0	0	0	0	A	36483161	G	A	36483161	2	1	95	1	0	0	0	0	0	0	0	1	6723	1310	46	4		4	GPR179	17	36483161	Silent	SNP	G	TCGA-CN-6016-01A-11D-1683-08	9440297	36483161	44712049	113	18622											
KCNH6	81033	broad.mit.edu	37	chr17	61621726	61621726	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacccagattgctggcctCtgaagctgggctccaggcta	9	8	12	12	0	1	3	0	1	1	2	2	3	2	3	3	3	2	4	3	3	3	2			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:61621726C>T	ENST00000583023.1	+	12	2469	c.2458C>T	c.(2458-2460)Ctg>Ttg	p.L820L	KCNH6_ENST00000581784.1_Silent_p.L731L|KCNH6_ENST00000314672.5_Silent_p.L784L|KCNH6_ENST00000456941.2_Silent_p.L731L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	820					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TTGCTGGCCTCTGAAGCTGGG	0.617													9	19					0	0	0	0	T	61621726	C	T	61621726	2	4	95	1	0	0	0	0	0	0	0	1	8089	912	32	2		2	KCNH6	17	61621726	Silent	SNP	C	TCGA-CN-6016-01A-11D-1683-08	25138565	61621726	19573484	114	18623											
DSEL	92126	broad.mit.edu	37	chr18	65179743	65179743	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgagagaaatctgaagTccaggattggaactatcaat	16	10	9	6	0	2	3	1	2	1	1	3	6	3	5	1	2	1	0	1	2	5	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr18:65179743T>C	ENST00000310045.7	-	2	3606	c.2133A>G	c.(2131-2133)ggA>ggG	p.G711G	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	701						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAATCTGAAGTCCAGGATTGG	0.363													11	45					0	0	0	0	C	65179743	T	C	65179743	2	2	95	1	0	0	0	0	0	0	0	1	4811	1654	58	5		5	DSEL	18	65179743	Silent	SNP	T	TCGA-CN-6016-01A-11D-1683-08		65179743	12897505	115	18624											
ZNF491	126069	broad.mit.edu	37	chr19	11917375	11917375	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcaatttttccagttcctttCgcagacatgaaaggacacac	12	12	6	11	1	1	2	1	1	0	1	4	3	3	3	2	1	0	2	2	1	2	4			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:11917375C>G	ENST00000323169.5	+	3	938	c.607C>G	c.(607-609)Cgc>Ggc	p.R203G	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CAGTTCCTTTCGCAGACATGA	0.438													23	18					0	0	0	0	G	11917375	C	G	11917375	3	3	95	1	0	0	0	0	1	0	0	0	18037	884	31	3	609	3	ZNF491	19	11917375	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08		11917375	47211608	116	18625											
OR10H2	26538	broad.mit.edu	37	chr19	15839214	15839214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctcaccgtcatgggctacGaccgctacgtggccatctgc	6	9	11	15	4	3	0	2	0	1	0	3	1	3	0	3	2	4	3	3	2	2	2	rs113885700	byFrequency	TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:15839214G>A	ENST00000305899.3	+	1	381	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D121Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGGGCTACGACCGCTACGT	0.652													6	55					0	0	0	0	A	15839214	G	A	15839214	3	1	95	1	0	0	0	0	1	0	0	0	10977	1058	37	1	363	1	OR10H2	19	15839214	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	3921839	15839214	43289769	117	18626											
GPATCH1	55094	broad.mit.edu	37	chr19	33587186	33587186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacctgtggatttcacacCtaaagataatgtgcatggtc	12	11	8	10	0	1	1	1	0	0	1	2	2	1	2	2	2	1	1	2	2	3	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:33587186C>T	ENST00000170564.2	+	7	1000	c.686C>T	c.(685-687)cCt>cTt	p.P229L		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	229						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GATTTCACACCTAAAGATAAT	0.438													14	87					0	0	0	0	T	33587186	C	T	33587186	3	4	95	1	0	0	0	0	1	0	0	0	6639	681	24	4	712	4	GPATCH1	19	33587186	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	17747972	33587186	25541797	118	18627											
FCGBP	8857	broad.mit.edu	37	chr19	40420125	40420125	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacacctgcacctgcccatCtgctgcttggaagggcagat	9	8	11	13	0	1	1	0	0	1	1	1	3	1	2	3	2	5	4	3	2	2	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:40420125C>G	ENST00000221347.6	-	6	2876	c.2869G>C	c.(2869-2871)Gat>Cat	p.D957H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	957	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACCTGCCCATCTGCTGCTTGG	0.582													8	45					0	0	0	0	G	40420125	C	G	40420125	3	3	95	1	0	0	0	0	1	0	0	0	5823	913	32	2	13472	2	FCGBP	19	40420125	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	6832939	40420125	18708858	119	18628											
CYP2F1	1572	broad.mit.edu	37	chr19	41622401	41622401	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtacacagtgcacctgggAcccaggcgggtggtggtcct	7	8	15	11	1	0	0	0	0	0	0	1	1	1	1	3	5	2	2	3	5	1	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:41622401A>G	ENST00000331105.2	+	3	285	c.213A>G	c.(211-213)ggA>ggG	p.G71G		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	71					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGCACCTGGGACCCAGGCGGG	0.612													5	109					0	0	0	0	G	41622401	A	G	41622401	2	3	95	1	0	0	0	0	0	0	0	1	4203	262	10	5		5	CYP2F1	19	41622401	Silent	SNP	A	TCGA-CN-6016-01A-11D-1683-08	1202276	41622401	17506582	120	18629											
SYMPK	8189	broad.mit.edu	37	chr19	46319207	46319207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcccggggtctcgcactCaggcccctcctcccggaaat	6	7	11	17	3	2	0	1	0	1	0	5	2	4	1	5	4	1	1	5	4	1	0			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:46319207C>T	ENST00000245934.7	-	26	3833	c.3589G>A	c.(3589-3591)Gag>Aag	p.E1197K	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1197					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GTCTCGCACTCAGGCCCCTCC	0.682													3	16					0	0	0	0	T	46319207	C	T	46319207	3	4	95	1	0	0	0	0	1	0	0	0	15530	835	29	2	243	2	SYMPK	19	46319207	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	4696806	46319207	12809776	121	18630											
CCDC61	729440	broad.mit.edu	37	chr19	46509871	46509871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacagacctggagtccctgCggaaccgcaagatggggggc	10	4	15	12	2	0	2	0	0	0	2	1	4	1	4	3	5	2	1	3	5	2	0			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:46509871C>T	ENST00000263284.2	+	5	457	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	CCDC61_ENST00000595358.1_Missense_Mutation_p.R96W|CCDC61_ENST00000594087.1_Missense_Mutation_p.R96W|CCDC61_ENST00000536603.1_Missense_Mutation_p.R96W					coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GGAGTCCCTGCGGAACCGCAA	0.632													9	28					0	0	0	0	T	46509871	C	T	46509871	3	4	95	1	0	0	0	0	1	0	0	0	2859	759	27	1	475	1	CCDC61	19	46509871	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	190664	46509871	12619112	122	18631											
ZNF766	90321	broad.mit.edu	37	chr19	52785416	52785416	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attctctcaggaggagtggaAatgcctggaccctgtgcaga	10	9	13	9	0	2	1	1	0	1	1	3	5	2	5	2	4	2	1	2	4	1	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:52785416A>T	ENST00000439461.1	+	2	114	c.71A>T	c.(70-72)aAa>aTa	p.K24I	ZNF766_ENST00000593612.1_Missense_Mutation_p.K39I|ZNF766_ENST00000359102.4_Missense_Mutation_p.K39I|ZNF766_ENST00000599581.1_Missense_Mutation_p.K24I|ZNF766_ENST00000600821.1_Missense_Mutation_p.K19I	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GAGGAGTGGAAATGCCTGGAC	0.463													32	152					0	0	0	0	T	52785416	A	T	52785416	3	4	95	1	0	0	0	0	1	0	0	0	18234	14	1	5	77	5	ZNF766	19	52785416	Missense_Mutation	SNP	A	TCGA-CN-6016-01A-11D-1683-08	6275545	52785416	6343567	123	18632											
CNOT3	4849	broad.mit.edu	37	chr19	54653382	54653382	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggacccagcctcctggtGccactgcctgtgaatcctcc	5	8	12	16	0	0	1	0	1	0	0	3	2	3	2	7	3	3	0	7	3	1	0			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:54653382G>C	ENST00000406403.1	+	12	3097	c.1494G>C	c.(1492-1494)gtG>gtC	p.V498V	CNOT3_ENST00000221232.5_Silent_p.V498V|CNOT3_ENST00000358389.3_Silent_p.V317V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	498	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCTCCTGGTGCCACTGCCTG	0.677													5	23					0	0	0	0	C	54653382	G	C	54653382	2	2	95	1	0	0	0	0	0	0	0	1	3650	1306	46	4		4	CNOT3	19	54653382	Silent	SNP	G	TCGA-CN-6016-01A-11D-1683-08	1867966	54653382	4475601	124	18633											
ZNF211	10520	broad.mit.edu	37	chr19	58146066	58146066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggatctccttgatgaggctCagaaacacctgtacttcgat	10	11	10	10	1	2	3	1	2	1	1	4	5	2	4	2	2	2	2	2	2	2	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:58146066C>G	ENST00000544273.1	+	4	523	c.196C>G	c.(196-198)Cag>Gag	p.Q66E	ZNF211_ENST00000299871.5_Missense_Mutation_p.Q67E|ZNF211_ENST00000347302.3_Missense_Mutation_p.Q54E|ZNF211_ENST00000254182.7_5'UTR|ZNF211_ENST00000541801.1_5'UTR|ZNF211_ENST00000391703.3_5'UTR|ZNF211_ENST00000240731.4_Missense_Mutation_p.Q67E|ZNF211_ENST00000420680.1_Missense_Mutation_p.Q58E			Q13398	ZN211_HUMAN	zinc finger protein 211	54	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGATGAGGCTCAGAAACACCT	0.502													12	84					0	0	0	0	G	58146066	C	G	58146066	3	3	95	1	0	0	0	0	1	0	0	0	17862	827	29	2	209	2	ZNF211	19	58146066	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	3492684	58146066	982917	125	18634											
HAO1	54363	broad.mit.edu	37	chr20	7866452	7866452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctttccgcacacccccGtccaggaagacttccacctt	7	9	7	18	2	0	1	0	0	0	1	3	2	3	2	7	1	1	1	7	1	1	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr20:7866452G>A	ENST00000378789.3	-	6	924	c.873C>T	c.(871-873)gaC>gaT	p.D291D		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	291	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCACACCCCCGTCCAGGAAGA	0.502													15	120					0	0	0	0	A	7866452	G	A	7866452	2	1	95	1	0	0	0	0	0	0	0	1	7001	1136	40	1		1	HAO1	20	7866452	Silent	SNP	G	TCGA-CN-6016-01A-11D-1683-08		7866452	55159068	126	18635											
XRN2	22803	broad.mit.edu	37	chr20	21335499	21335499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtatacccagacctcaCtccagaagagagtaagaatt	16	7	9	9	0	1	5	1	0	0	5	2	6	2	5	3	1	1	2	3	1	5	4			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr20:21335499C>T	ENST00000377191.3	+	21	2104	c.2009C>T	c.(2008-2010)aCt>aTt	p.T670I	XRN2_ENST00000430571.2_Missense_Mutation_p.T594I|XRN2_ENST00000539513.1_Missense_Mutation_p.T616I	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	670					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCAGACCTCACTCCAGAAGAG	0.398													3	25					0	0	0	0	T	21335499	C	T	21335499	3	4	95	1	0	0	0	0	1	0	0	0	17556	565	20	4	2091	4	XRN2	20	21335499	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08	13469047	21335499	41690021	127	18636											
PFKL	5211	broad.mit.edu	37	chr21	45746680	45746680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataccgcatcagtatggccGcctacgtgtcaggggagctg	9	8	13	11	3	2	0	2	0	0	0	2	1	2	1	3	3	3	3	3	3	4	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr21:45746680G>A	ENST00000403390.1	+	23	2419	c.2419G>A	c.(2419-2421)Gcc>Acc	p.A807T	PFKL_ENST00000349048.4_Missense_Mutation_p.A760T			P17858	K6PL_HUMAN	phosphofructokinase, liver	760					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CAGTATGGCCGCCTACGTGTC	0.667													3	9					0	0	0	0	A	45746680	G	A	45746680	3	1	95	1	0	0	0	0	1	0	0	0	11836	1087	38	1	2364	1	PFKL	21	45746680	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08		45746680	2383215	128	18637											
CCT8L2	150160	broad.mit.edu	37	chr22	17072823	17072823	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtccccccgggcagcgcGcacaccccaacacgctcagg	8	3	11	19	4	1	0	1	0	0	0	2	0	2	0	5	2	2	3	5	2	1	0	rs137862002		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr22:17072823G>A	ENST00000359963.3	-	1	877	c.618C>T	c.(616-618)tgC>tgT	p.C206C		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	206					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.C206C(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGGCAGCGCGCACACCCCAA	0.617													4	83					0	0	0	0	A	17072823	G	A	17072823	2	1	95	1	0	0	0	0	0	0	0	1	2990	1079	38	1		1	CCT8L2	22	17072823	Silent	SNP	G	TCGA-CN-6016-01A-11D-1683-08		17072823	34231743	129	18638											
PICK1	9463	broad.mit.edu	37	chr22	38465066	38465066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaagtcaagcaccggctgGtggagaacatgagttcaggg	13	6	15	7	1	2	3	2	1	0	2	2	4	2	3	1	4	2	3	1	4	3	1			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr22:38465066G>A	ENST00000404072.3	+	6	723	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000468288.1_3'UTR|PICK1_ENST00000356976.3_Missense_Mutation_p.V126M	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	126					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GCACCGGCTGGTGGAGAACAT	0.632													10	15					0	0	0	0	A	38465066	G	A	38465066	3	1	95	1	0	0	0	0	1	0	0	0	11953	1261	44	4	394	4	PICK1	22	38465066	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	21392243	38465066	12839500	130	18639											
DMD	1756	broad.mit.edu	37	chrX	32613911	32613911	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagcagcagttgcgtgatctCcactagattcatcaactacc	12	10	7	12	1	3	2	2	1	1	1	4	2	3	2	2	0	5	3	2	0	4	4			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chrX:32613911C>G	ENST00000357033.4	-	13	1771	c.1565G>C	c.(1564-1566)gGa>gCa	p.G522A	DMD_ENST00000288447.4_Missense_Mutation_p.G514A|DMD_ENST00000378677.2_Missense_Mutation_p.G518A	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	522			Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCGTGATCTCCACTAGATTC	0.353													7	23					0	0	0	0	G	32613911	C	G	32613911	3	3	95	1	0	0	0	0	1	0	0	0	4617	855	30	2	10003	2	DMD	23	32613911	Missense_Mutation	SNP	C	TCGA-CN-6016-01A-11D-1683-08		32613911	122656649	131	18640											
C1GALT1C1	29071	broad.mit.edu	37	chrX	119760090	119760090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgtcagaaccatttggaGgtaagaaaaccaatgcatca	16	9	8	8	0	2	2	2	0	0	2	2	3	2	3	2	2	3	2	2	2	5	3			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chrX:119760090G>A	ENST00000304661.5	-	2	1170	c.932C>T	c.(931-933)cCt>cTt	p.P311L	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.P311L	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	311						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						ACCATTTGGAGGTAAGAAAAC	0.378													16	34					0	0	0	0	A	119760090	G	A	119760090	3	1	95	1	0	0	0	0	1	0	0	0	1972	1000	35	4	28	4	C1GALT1C1	23	119760090	Missense_Mutation	SNP	G	TCGA-CN-6016-01A-11D-1683-08	87146179	119760090	35510470	132	18641											
NCKAP1	10787	broad.mit.edu	37	chr2	183888621	183888621	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtcgataagataggatggTtttgccttggggtctccaca	8	14	12	7	1	1	1	0	0	1	1	3	3	1	2	2	4	1	1	2	4	2	6			TCGA-CN-6017-01A-11D-1683-08	TCGA-CN-6017-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cd89cbe-6bd9-41a2-a042-345fa0a09866	df3b1467-ca2e-4e97-992d-6ab6a4aea441	g.chr2:183888621T>C	ENST00000360982.2	-	3	908	c.150A>G	c.(148-150)aaA>aaG	p.K50K	NCKAP1_ENST00000361354.3_Silent_p.K44K	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	44					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GATAGGATGGTTTTGCCTTGG	0.353													5	109					0	0	0	0	C	183888621	T	C	183888621	2	2	96	1	0	0	0	0	0	0	0	1	10291	1722	60	5		5	NCKAP1	2	183888621	Silent	SNP	T	TCGA-CN-6017-01A-11D-1683-08		183888621	59310752	1	18642											
SLC15A2	6565	broad.mit.edu	37	chr3	121647850	121647850	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacaccacactattccaaaCtgcacctgaaaacaaaaagc	20	5	3	13	0	0	1	0	1	0	0	1	1	1	1	3	0	5	1	3	0	7	2			TCGA-CN-6017-01A-11D-1683-08	TCGA-CN-6017-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cd89cbe-6bd9-41a2-a042-345fa0a09866	df3b1467-ca2e-4e97-992d-6ab6a4aea441	g.chr3:121647850C>G	ENST00000489711.1	+	16	1751	c.1363C>G	c.(1363-1365)Ctg>Gtg	p.L455V	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.L424V	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	455					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)	CTATTCCAAACTGCACCTGAA	0.403													4	106					0	0	0	0	G	121647850	C	G	121647850	3	3	96	1	0	0	0	0	1	0	0	0	14487	564	20	4	1425	4	SLC15A2	3	121647850	Missense_Mutation	SNP	C	TCGA-CN-6017-01A-11D-1683-08		121647850	76374580	2	18643											
DOCK2	1794	broad.mit.edu	37	chr5	169122871	169122871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtcaaatagtccgggtcgGcaagatggatcttaaggata	12	11	12	6	2	2	1	1	0	1	1	4	3	3	3	1	4	0	1	1	4	5	4			TCGA-CN-6017-01A-11D-1683-08	TCGA-CN-6017-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cd89cbe-6bd9-41a2-a042-345fa0a09866	df3b1467-ca2e-4e97-992d-6ab6a4aea441	g.chr5:169122871G>A	ENST00000256935.8	+	10	988	c.908G>A	c.(907-909)gGc>gAc	p.G303D		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	303					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCCGGGTCGGCAAGATGGAT	0.463													4	59					0	0	0	0	A	169122871	G	A	169122871	3	1	96	1	0	0	0	0	1	0	0	0	4723	1203	42	4	946	4	DOCK2	5	169122871	Missense_Mutation	SNP	G	TCGA-CN-6017-01A-11D-1683-08		169122871	11792389	3	18644											
OR12D2	26529	broad.mit.edu	37	chr6	29365004	29365004	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccgtatccatcattttctCtgtgatattaagccattgct	10	16	5	10	1	2	1	1	1	1	0	4	1	3	1	3	0	3	2	3	0	4	6			TCGA-CN-6017-01A-11D-1683-08	TCGA-CN-6017-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cd89cbe-6bd9-41a2-a042-345fa0a09866	df3b1467-ca2e-4e97-992d-6ab6a4aea441	g.chr6:29365004C>G	ENST00000383555.2	+	1	589	c.528C>G	c.(526-528)ctC>ctG	p.L176L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						ATCATTTTCTCTGTGATATTA	0.483													5	114					0	0	0	0	G	29365004	C	G	29365004	2	3	96	1	0	0	0	0	0	0	0	1	11002	900	32	2		2	OR12D2	6	29365004	Silent	SNP	C	TCGA-CN-6017-01A-11D-1683-08		29365004	141750063	4	18645											
PCLO	27445	broad.mit.edu	37	chr7	82580167	82580167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatgatcttttcttgttctCggaacctttgaatttcctga	7	18	6	10	1	3	3	0	3	3	0	5	4	4	4	3	1	1	1	3	1	2	6			TCGA-CN-6017-01A-11D-1683-08	TCGA-CN-6017-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cd89cbe-6bd9-41a2-a042-345fa0a09866	df3b1467-ca2e-4e97-992d-6ab6a4aea441	g.chr7:82580167C>T	ENST00000423517.2	-	6	10074	c.9737G>A	c.(9736-9738)cGa>cAa	p.R3246Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R3246Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3177	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3246L(2)|p.R3177L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTGTTCTCGGAACCTTTG	0.473													7	92					0	0	0	0	T	82580167	C	T	82580167	3	4	96	1	0	0	0	0	1	0	0	0	11654	884	31	1	5788	1	PCLO	7	82580167	Missense_Mutation	SNP	C	TCGA-CN-6017-01A-11D-1683-08		82580167	76558496	5	18646											
SMG1	23049	broad.mit.edu	37	chr16	18846419	18846419	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcgtatcgctgcagggTcatttcagtggcagtgatga	7	12	14	8	2	2	2	2	2	0	0	3	2	2	2	0	2	3	5	0	2	1	2			TCGA-CN-6017-01A-11D-1683-08	TCGA-CN-6017-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cd89cbe-6bd9-41a2-a042-345fa0a09866	df3b1467-ca2e-4e97-992d-6ab6a4aea441	g.chr16:18846419T>G	ENST00000446231.2	-	49	8537	c.8125A>C	c.(8125-8127)Acc>Ccc	p.T2709P	SMG1_ENST00000389467.3_Missense_Mutation_p.T2709P			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2709					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CGCTGCAGGGTCATTTCAGTG	0.443													4	121					0	0	0	0	G	18846419	T	G	18846419	3	3	96	1	0	0	0	0	1	0	0	0	14883	1667	58	5	2920	5	SMG1	16	18846419	Missense_Mutation	SNP	T	TCGA-CN-6017-01A-11D-1683-08		18846419	71508334	6	18647											
TP53	7157	broad.mit.edu	37	chr17	7579441	7579453	+	Frame_Shift_Del	DEL	CGGTGTAGGAGCT	CGGTGTAGGAGCT	-																															ggggctggtgcaggggccgcCggtgtaggagctgctggtgc																										TCGA-CN-6017-01A-11D-1683-08	TCGA-CN-6017-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cd89cbe-6bd9-41a2-a042-345fa0a09866	df3b1467-ca2e-4e97-992d-6ab6a4aea441	g.chr17:7579441_7579453delCGGTGTAGGAGCT	ENST00000420246.2	-	4	366_378	c.234_246delAGCTCCTACACCG	c.(232-246)gcfs	p.AAPTP78fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.AAPTP78fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.AAPTP78fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.AAPTP78fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.AAPTP78fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.AAPTP78fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	78	Interaction with HRMT1L2.|Interaction with WWOX.		A -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P82L(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.T81I(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.P80L(1)|p.A79V(1)|p.A79_A88del10(1)|p.P82fs*43(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.P82fs*67(1)|p.P80fs*41(1)|p.P82P(1)|p.P80fs*43(1)|p.A83fs*91(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAG	0.61		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	98	---	---	---	---					-	7579453	CGGTGTAGGAGCT	-	7579441	7	5	96	1	0	1	0	1	0	0	0	0	16476	639	23	0	1056	0	TP53	17	7579441	Frame_Shift_Del	DEL	CGGTGTAGGAGCT	TCGA-CN-6017-01A-11D-1683-08		7579441	73615769	7	18648											
OR7G2	390882	broad.mit.edu	37	chr19	9213904	9213904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaattttgaaatagctgtttGgtttctcgcttccatgctgt	7	18	9	7	1	1	1	0	1	1	0	3	2	2	1	1	1	2	5	1	1	3	6			TCGA-CN-6017-01A-11D-1683-08	TCGA-CN-6017-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cd89cbe-6bd9-41a2-a042-345fa0a09866	df3b1467-ca2e-4e97-992d-6ab6a4aea441	g.chr19:9213904G>T	ENST00000305456.2	-	1	78	c.79C>A	c.(79-81)Caa>Aaa	p.Q27K		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						ATAGCTGTTTGGTTTCTCGCT	0.453													3	59					6.4e-05	6.4e-05	1	0	T	9213904	G	T	9213904	3	4	96	1	0	0	0	0	1	0	0	0	11294	1357	47	4	960	4	OR7G2	19	9213904	Missense_Mutation	SNP	G	TCGA-CN-6017-01A-11D-1683-08		9213904	49915079	8	18649											
PGD	5226	broad.mit.edu	37	chr1	10477152	10477152	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttgatggtgataagaaatCattcctggaggacattcgga	12	12	12	5	1	1	3	1	2	0	1	3	6	2	6	1	4	0	1	1	4	2	4			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:10477152C>G	ENST00000538557.1	+	9	1158	c.914C>G	c.(913-915)tCa>tGa	p.S305*	PGD_ENST00000270776.8_Nonsense_Mutation_p.S318*|PGD_ENST00000541529.1_Nonsense_Mutation_p.S296*|PGD_ENST00000498356.1_3'UTR			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	318					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GATAAGAAATCATTCCTGGAG	0.517													12	57					0	0	0	0	G	10477152	C	G	10477152	4	3	97	1	0	0	0	0	0	1	0	0	11859	838	29	2	987	2	PGD	1	10477152	Nonsense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08		10477152	238773469	1	18650											
GJA9	81025	broad.mit.edu	37	chr1	39340697	39340697	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccattaagttcttttccAaatattttatgagtgtcttt	10	21	4	6	0	2	1	0	1	2	0	3	1	3	1	2	0	1	1	2	0	5	9			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:39340697A>C	ENST00000454994.2	-	2	1350	c.1074T>G	c.(1072-1074)ttT>ttG	p.F358L	RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.F358L|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000360786.3_Missense_Mutation_p.F358L			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	358					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GTTCTTTTCCAAATATTTTAT	0.343													8	40					0	0	0	0	C	39340697	A	C	39340697	3	2	97	1	0	0	0	0	1	0	0	0	6457	127	5	5	477	5	GJA9	1	39340697	Missense_Mutation	SNP	A	TCGA-CN-6018-01A-11D-1683-08	28863545	39340697	209909924	2	18651											
PABPC4	8761	broad.mit.edu	37	chr1	40034595	40034595	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccacttatttcttttccaTtcatctcttccacagcctag	8	17	2	14	0	3	0	1	0	2	0	6	0	5	0	4	0	2	0	4	0	3	8			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:40034595T>C	ENST00000372857.3	-	6	1547	c.755A>G	c.(754-756)aAt>aGt	p.N252S	PABPC4_ENST00000372856.3_Missense_Mutation_p.N252S|PABPC4_ENST00000372858.3_Missense_Mutation_p.N252S|PABPC4_ENST00000372862.3_Missense_Mutation_p.N252S|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000529216.1_5'UTR	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	252	RRM 3.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCTTTTCCATTCATCTCTTC	0.368													19	85					0	0	0	0	C	40034595	T	C	40034595	3	2	97	1	0	0	0	0	1	0	0	0	11437	1493	52	5	1267	5	PABPC4	1	40034595	Missense_Mutation	SNP	T	TCGA-CN-6018-01A-11D-1683-08	693898	40034595	209216026	3	18652											
EPHX4	253152	broad.mit.edu	37	chr1	92495738	92495738	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcgggctctgcgcctccatCcacctgctcaaacttttgtg	5	12	9	15	2	2	0	1	0	1	0	4	0	4	0	4	1	4	2	4	1	1	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:92495738C>T	ENST00000370383.4	+	1	200	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	34						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GCGCCTCCATCCACCTGCTCA	0.697													4	4					0	0	0	0	T	92495738	C	T	92495738	2	4	97	1	0	0	0	0	0	0	0	1	5220	845	30	2		2	EPHX4	1	92495738	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08	52461143	92495738	156754883	4	18653											
NOTCH2	4853	broad.mit.edu	37	chr1	120466368	120466368	+	Frame_Shift_Del	DEL	T	T	-																															ggtacaccatgagttcccccTgggagtcccgcttaatgcgc																										TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:120466368delT	ENST00000256646.2	-	26	4970	c.4751delA	c.(4750-4752)cgfs	p.Q1584fs	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1584	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		GAGTTCCCCCTGGGAGTCCCG	0.542			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				19	47	---	---	---	---					-	120466368	T	-	120466368	7	5	97	1	0	1	0	1	0	0	0	0	10618	1580	55	0	2700	0	NOTCH2	1	120466368	Frame_Shift_Del	DEL	T	TCGA-CN-6018-01A-11D-1683-08	27970630	120466368	128784253	5	18654											
MRPL9	65005	broad.mit.edu	37	chr1	151735515	151735515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttttctttgggccgatgCttcgtgtcctccaccagctt	4	15	10	12	2	1	0	0	0	1	0	4	1	3	0	4	2	2	3	4	2	0	5	rs148707904		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:151735515C>T	ENST00000368830.3	-	2	345	c.261G>A	c.(259-261)aaG>aaA	p.K87K	MRPL9_ENST00000467306.1_5'UTR|MRPL9_ENST00000368829.3_Silent_p.K87K|OAZ3_ENST00000321531.5_5'UTR|OAZ3_ENST00000315067.8_5'UTR	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	87					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGGCCGATGCTTCGTGTCCT	0.647													40	57					0	0	0	0	T	151735515	C	T	151735515	2	4	97	1	0	0	0	0	0	0	0	1	9890	796	28	4		4	MRPL9	1	151735515	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08	31269147	151735515	97515106	6	18655											
IGSF8	93185	broad.mit.edu	37	chr1	160061631	160061631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaccgttttcgaagcctCttcatgaagcagcaagtgat	11	11	9	10	2	3	2	2	2	1	0	4	4	3	2	2	0	3	3	2	0	3	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:160061631C>A	ENST00000368086.1	-	6	2040	c.1824G>T	c.(1822-1824)aaG>aaT	p.K608N	IGSF8_ENST00000314485.7_Missense_Mutation_p.K608N			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	608					cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TTCGAAGCCTCTTCATGAAGC	0.557													3	56					0.00909568	0.00953783	1	0	A	160061631	C	A	160061631	3	1	97	1	0	0	0	0	1	0	0	0	7657	912	32	2	21	2	IGSF8	1	160061631	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	8326116	160061631	89188990	7	18656											
NDUFS2	4720	broad.mit.edu	37	chr1	161179925	161179925	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccccttgggcttatggatGacatttatcagttttctaag	9	16	8	8	0	2	1	1	1	1	0	2	2	2	2	2	2	1	2	2	2	4	8			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:161179925G>C	ENST00000392179.4	+	7	966	c.727G>C	c.(727-729)Gac>Cac	p.D243H	NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000367993.3_Missense_Mutation_p.D243H|NDUFS2_ENST00000476409.2_Missense_Mutation_p.D145H	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	243					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	GCTTATGGATGACATTTATCA	0.502											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	57					0	0	0	0	C	161179925	G	C	161179925	3	2	97	1	0	0	0	0	1	0	0	0	10362	1290	45	2	753	2	NDUFS2	1	161179925	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	1118294	161179925	88070696	8	18657											
ZNF670	93474	broad.mit.edu	37	chr1	247201259	247201259	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacatgcatagggtttctctCcagtatgagttctttcatgt	8	17	8	8	0	3	1	1	1	2	0	5	1	4	1	1	1	2	4	1	1	3	6			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:247201259C>G	ENST00000366503.2	-	4	820	c.662G>C	c.(661-663)gGa>gCa	p.G221A		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GGGTTTCTCTCCAGTATGAGT	0.358													7	20					0	0	0	0	G	247201259	C	G	247201259	3	3	97	1	0	0	0	0	1	0	0	0	18172	855	30	2	511	2	ZNF670	1	247201259	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	86021334	247201259	2049362	9	18658											
BCL11A	53335	broad.mit.edu	37	chr2	60688817	60688817	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggtgcacgcgtggtcGcacaggttgcacttgtaggg	5	9	17	10	3	0	0	0	0	0	0	1	0	0	0	1	4	2	5	1	4	1	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:60688817G>A	ENST00000335712.6	-	4	1457	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C	BCL11A_ENST00000537768.1_Silent_p.C79C|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.C376C|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.C376C|BCL11A_ENST00000356842.4_Silent_p.C410C	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	410					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACGCGTGGTCGCACAGGTTGC	0.597			T	IGH@	B-CLL								18	84					0	0	0	0	A	60688817	G	A	60688817	2	1	97	1	0	0	0	0	0	0	0	1	1367	1079	38	1		1	BCL11A	2	60688817	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08		60688817	182510556	10	18659											
DUSP11	8446	broad.mit.edu	37	chr2	73993700	73993700	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaaaatcacttgacctGggtacactggaattccaatt	12	13	6	10	0	3	1	2	1	1	0	4	2	4	2	2	2	1	1	2	2	5	5			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:73993700G>C	ENST00000272444.3	-	8	821	c.780C>G	c.(778-780)ccC>ccG	p.P260P	DUSP11_ENST00000480948.1_Intron	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	213					RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						CACTTGACCTGGGTACACTGG	0.373													6	76					0	0	0	0	C	73993700	G	C	73993700	2	2	97	1	0	0	0	0	0	0	0	1	4847	1335	47	4		4	DUSP11	2	73993700	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08	13304883	73993700	169205673	11	18660											
ZNF2	7549	broad.mit.edu	37	chr2	95846873	95846873	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactaagcctgagattcaCgatgcttcagacaaaaaatc	17	8	7	9	1	2	2	2	1	0	2	3	5	2	2	1	0	3	1	1	0	5	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:95846873C>T	ENST00000398107.2	+	4	696	c.174C>T	c.(172-174)caC>caT	p.H58H	ZNF2_ENST00000453539.2_Silent_p.H113H|ZNF2_ENST00000425369.1_Silent_p.H20H|ZNF2_ENST00000295210.6_Silent_p.H62H|ZNF2_ENST00000340539.5_Silent_p.H100H	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	100	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CTGAGATTCACGATGCTTCAG	0.423													13	68					0	0	0	0	T	95846873	C	T	95846873	2	4	97	1	0	0	0	0	0	0	0	1	17855	535	19	1		1	ZNF2	2	95846873	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08	21853173	95846873	147352500	12	18661											
FAM178B	51252	broad.mit.edu	37	chr2	97543720	97543720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcatggcctgggggctCtcccggatctgcgtgctgat	3	10	16	12	3	2	1	0	1	2	0	3	2	2	2	2	5	3	3	2	5	0	0			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:97543720C>A	ENST00000417561.3	-	20	2357	c.2358G>T	c.(2356-2358)gaG>gaT	p.E786D	FAM178B_ENST00000393526.2_Missense_Mutation_p.E78D|FAM178B_ENST00000470789.1_5'UTR|FAM178B_ENST00000490605.2_Missense_Mutation_p.E638D|FAM178B_ENST00000327896.3_Missense_Mutation_p.E606D			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	786										large_intestine(1)|ovary(1)	2						CCTGGGGGCTCTCCCGGATCT	0.652													4	25					0.150653	0.152676	1	0	A	97543720	C	A	97543720	3	1	97	1	0	0	0	0	1	0	0	0	5545	912	32	2	133	2	FAM178B	2	97543720	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	1696847	97543720	145655653	13	18662											
LONRF2	164832	broad.mit.edu	37	chr2	100919411	100919411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctttcttcacagagttaCattcaggattcagagcaagg	11	13	8	9	0	5	2	3	0	2	2	5	3	5	3	0	2	2	2	0	2	2	6			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:100919411C>T	ENST00000393437.3	-	3	1532	c.893G>A	c.(892-894)tGt>tAt	p.C298Y	LONRF2_ENST00000409647.1_Missense_Mutation_p.C55Y	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	298					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CACAGAGTTACATTCAGGATT	0.403													26	65					0	0	0	0	T	100919411	C	T	100919411	3	4	97	1	0	0	0	0	1	0	0	0	8959	478	17	4	1411	4	LONRF2	2	100919411	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	3375691	100919411	142279962	14	18663											
DPP10	57628	broad.mit.edu	37	chr2	116485494	116485494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaataatttttaatgggattGctgactggttatatgaaggt	13	16	10	2	0	0	2	0	2	0	0	0	3	0	3	0	3	1	2	0	3	6	7			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:116485494G>C	ENST00000410059.1	+	8	1159	c.679G>C	c.(679-681)Gct>Cct	p.A227P	DPP10_ENST00000409163.1_Missense_Mutation_p.A177P|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.A231P|DPP10_ENST00000310323.8_Missense_Mutation_p.A220P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	227					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TAATGGGATTGCTGACTGGTT	0.284													4	36					0	0	0	0	C	116485494	G	C	116485494	3	2	97	1	0	0	0	0	1	0	0	0	4763	1319	46	4	880	4	DPP10	2	116485494	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	15566083	116485494	126713879	15	18664											
FSIP2	401024	broad.mit.edu	37	chr2	186672082	186672082	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaatttttggagaatgtgAtttctgctcttttctccaaa	11	18	6	6	0	3	2	0	1	3	1	4	3	3	2	1	1	1	1	1	1	4	6			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:186672082A>T	ENST00000343098.5	+	17	18316	c.18316A>T	c.(18316-18318)Att>Ttt	p.I6106F	FSIP2_ENST00000424728.1_Missense_Mutation_p.I6017F	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GGAGAATGTGATTTCTGCTCT	0.338													11	65					0	0	0	0	T	186672082	A	T	186672082	3	4	97	1	0	0	0	0	1	0	0	0	6123	333	12	5	18382	5	FSIP2	2	186672082	Missense_Mutation	SNP	A	TCGA-CN-6018-01A-11D-1683-08	70186588	186672082	56527291	16	18665											
NCL	4691	broad.mit.edu	37	chr2	232323778	232323778	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaagactttcaaaccagTgagttccaacgctttctcca	12	10	6	13	1	2	2	1	1	1	1	4	2	3	2	4	0	2	2	4	0	3	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:232323778T>C	ENST00000322723.4	-	7	1339	c.1099A>G	c.(1099-1101)Act>Gct	p.T367A		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	367	RRM 1.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTCAAACCAGTGAGTTCCAAC	0.378													29	46					0	0	0	0	C	232323778	T	C	232323778	3	2	97	1	0	0	0	0	1	0	0	0	10296	1696	59	5	1065	5	NCL	2	232323778	Missense_Mutation	SNP	T	TCGA-CN-6018-01A-11D-1683-08	45651696	232323778	10875595	17	18666											
LRRFIP1	9208	broad.mit.edu	37	chr2	238671551	238671551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtcatgggtgcaccagatGacaggaccagaactcccctt	11	7	11	12	0	1	3	1	1	0	2	2	4	2	4	4	3	2	1	4	3	1	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:238671551G>A	ENST00000244815.5	+	10	1363	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.D343N|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.D399N|LRRFIP1_ENST00000308482.9_Intron	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	399					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TGCACCAGATGACAGGACCAG	0.493													8	68					0	0	0	0	A	238671551	G	A	238671551	3	1	97	1	0	0	0	0	1	0	0	0	9091	1290	45	2	1913	2	LRRFIP1	2	238671551	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	6347773	238671551	4527822	18	18667											
GRM7	2917	broad.mit.edu	37	chr3	6903381	6903381	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaacgtgacgctgggCgcgcggatcctggacacttg	6	7	14	14	5	0	1	0	1	0	0	1	3	1	3	2	3	2	1	2	3	1	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:6903381C>T	ENST00000486284.1	+	1	580	c.306C>T	c.(304-306)ggC>ggT	p.G102G	GRM7_ENST00000403881.1_Silent_p.G102G|GRM7_ENST00000389336.4_Silent_p.G102G|GRM7_ENST00000402647.2_Silent_p.G102G|GRM7_ENST00000357716.4_Silent_p.G102G	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	102					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			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)	TGACGCTGGGCGCGCGGATCC	0.587													4	15					0	0	0	0	T	6903381	C	T	6903381	2	4	97	1	0	0	0	0	0	0	0	1	6852	755	27	1		1	GRM7	3	6903381	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08		6903381	191119049	19	18668											
EXOSC7	23016	broad.mit.edu	37	chr3	45052755	45052755	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtgggcaaggtactgcAtgcctccttgcagagtgttg	6	11	15	9	1	0	1	0	0	0	1	1	1	1	1	2	2	4	5	2	2	2	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:45052755A>T	ENST00000265564.7	+	8	848	c.800A>T	c.(799-801)cAt>cTt	p.H267L	EXOSC7_ENST00000461361.1_3'UTR|CLEC3B_ENST00000490386.1_Intron	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	267					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		AAGGTACTGCATGCCTCCTTG	0.532													3	11					0	0	0	0	T	45052755	A	T	45052755	3	4	97	1	0	0	0	0	1	0	0	0	5357	217	8	5	830	5	EXOSC7	3	45052755	Missense_Mutation	SNP	A	TCGA-CN-6018-01A-11D-1683-08	38149374	45052755	152969675	20	18669											
SI	6476	broad.mit.edu	37	chr3	164767620	164767620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaatttgtttacattacatCcttttgttgaaccttgaata	11	19	4	7	0	1	2	1	2	0	0	2	2	2	2	2	0	3	2	2	0	6	9			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:164767620C>T	ENST00000264382.3	-	14	1618	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	519	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TACATTACATCCTTTTGTTGA	0.284										HNSCC(35;0.089)			8	52					0	0	0	0	T	164767620	C	T	164767620	3	4	97	1	0	0	0	0	1	0	0	0	14385	855	30	2	4067	2	SI	3	164767620	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	119714865	164767620	33254810	21	18670											
LRRC31	79782	broad.mit.edu	37	chr3	169557902	169557902	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatctgaggaagcttggtCacagcatataacaagtgtct	12	11	11	7	0	3	2	1	2	2	0	3	3	3	3	0	2	3	2	0	2	4	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:169557902C>G	ENST00000316428.5	-	9	1584	c.1527G>C	c.(1525-1527)gtG>gtC	p.V509V	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Silent_p.V453V	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	509										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GAAGCTTGGTCACAGCATATA	0.413													13	85					0	0	0	0	G	169557902	C	G	169557902	2	3	97	1	0	0	0	0	0	0	0	1	9050	813	29	2		2	LRRC31	3	169557902	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08	4790282	169557902	28464528	22	18671											
CLCN2	1181	broad.mit.edu	37	chr3	184074822	184074822	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggttttctgcttccgcatCacctggacaatcttccggtt	6	15	8	12	2	3	0	1	0	2	0	5	1	5	1	3	3	1	4	3	3	1	5			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:184074822C>T	ENST00000265593.4	-	10	1215	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Silent_p.V348V|CLCN2_ENST00000434054.2_Silent_p.V304V|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Silent_p.V348V	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	348						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCTTCCGCATCACCTGGACAA	0.522													7	27					0	0	0	0	T	184074822	C	T	184074822	2	4	97	1	0	0	0	0	0	0	0	1	3493	813	29	2		2	CLCN2	3	184074822	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08	14516920	184074822	13947608	23	18672											
MFI2	4241	broad.mit.edu	37	chr3	196735818	196735818	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacgggcacgcagctggcaTtgaagaactcgctcactgct	9	8	11	13	3	2	2	2	1	0	1	3	2	2	2	0	2	3	6	0	2	2	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:196735818T>C	ENST00000296350.5	-	12	1657	c.1544A>G	c.(1543-1545)aAt>aGt	p.N515S		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	515	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GCAGCTGGCATTGAAGAACTC	0.642													48	75					0	0	0	0	C	196735818	T	C	196735818	3	2	97	1	0	0	0	0	1	0	0	0	9591	1493	52	5	692	5	MFI2	3	196735818	Missense_Mutation	SNP	T	TCGA-CN-6018-01A-11D-1683-08	12660996	196735818	1286612	24	18673											
ZBTB49	166793	broad.mit.edu	37	chr4	4301683	4301683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggttgagcatggaccctgTtgctacccacagctgccatc	8	10	10	13	0	0	1	0	1	0	0	1	2	0	2	3	2	5	5	3	2	1	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:4301683T>C	ENST00000337872.4	+	2	132	c.11T>C	c.(10-12)gTt>gCt	p.V4A	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Missense_Mutation_p.V4A	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ATGGACCCTGTTGCTACCCAC	0.463													11	72					0	0	0	0	C	4301683	T	C	4301683	3	2	97	1	0	0	0	0	1	0	0	0	17645	1725	60	5	13	5	ZBTB49	4	4301683	Missense_Mutation	SNP	T	TCGA-CN-6018-01A-11D-1683-08		4301683	186852593	25	18674											
UGT2A3	79799	broad.mit.edu	37	chr4	69795796	69795796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattcttgataatctcataGcattctctttataactggaa	13	16	5	7	0	3	1	1	1	3	0	5	3	3	2	0	1	2	1	0	1	6	8			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:69795796G>T	ENST00000251566.4	-	6	1349	c.1319C>A	c.(1318-1320)gCt>gAt	p.A440D	UGT2A3_ENST00000420231.2_Missense_Mutation_p.A151D	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	440						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TAATCTCATAGCATTCTCTTT	0.383													8	48					0.000157383	0.000168545	1	0	T	69795796	G	T	69795796	3	4	97	1	0	0	0	0	1	0	0	0	17051	971	34	4	268	4	UGT2A3	4	69795796	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	65494113	69795796	121358480	26	18675											
GK2	2712	broad.mit.edu	37	chr4	80328687	80328687	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggtccattggaatttcaAaaaagtcacagagctcttta	15	11	8	7	0	3	1	2	0	1	1	4	3	4	2	1	2	1	1	1	2	6	4			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:80328687A>G	ENST00000358842.3	-	1	685	c.668T>C	c.(667-669)tTt>tCt	p.F223S		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	223					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGGAATTTCAAAAAAGTCACA	0.398													16	70					0	0	0	0	G	80328687	A	G	80328687	3	3	97	1	0	0	0	0	1	0	0	0	6472	14	1	5	997	5	GK2	4	80328687	Missense_Mutation	SNP	A	TCGA-CN-6018-01A-11D-1683-08	10532891	80328687	110825589	27	18676											
GPRIN3	285513	broad.mit.edu	37	chr4	90170269	90170270	+	In_Frame_Ins	INS	-	-	CTG																															tggggctggtggagacggatINSctgctctcgacactcgccac																										TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:90170269_90170270insCTG	ENST00000333209.3	-	2	1510_1511	c.992_993insCAG	c.(991-993)atc>aCAGtc	p.331_331I>TV		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	331								p.R331S(1)|p.R331T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGGAGACGGATCTGCTCTCGAC	0.545													12	68	---	---	---	---					CTG	90170270	-	CTG	90170269	7	5	97	1	0	1	1	0	0	0	0	0	6781	1432	50	0	1341	0	GPRIN3	4	90170269	In_Frame_Ins	INS	-	TCGA-CN-6018-01A-11D-1683-08	9841582	90170269	100984007	28	18677											
PDHA2	5161	broad.mit.edu	37	chr4	96762253	96762253	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagggatcctataataattCtccaagatagaatggtaaac	17	10	8	6	0	1	3	0	0	1	3	3	4	2	4	2	2	1	1	2	2	8	6			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:96762253C>G	ENST00000295266.4	+	1	1015	c.952C>G	c.(952-954)Ctc>Gtc	p.L318V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	318					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TATAATAATTCTCCAAGATAG	0.423													11	42					0	0	0	0	G	96762253	C	G	96762253	3	3	97	1	0	0	0	0	1	0	0	0	11736	913	32	2	954	2	PDHA2	4	96762253	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	6591984	96762253	94392023	29	18678											
METAP1	23173	broad.mit.edu	37	chr4	99982433	99982433	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatcctaacccggcgacttGacagtgcacggcctcacttc	10	8	8	15	3	1	1	1	1	0	0	3	2	2	1	3	2	2	1	3	2	2	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:99982433G>C	ENST00000296411.6	+	11	1260	c.1126G>C	c.(1126-1128)Gac>Cac	p.D376H	METAP1_ENST00000544031.1_Missense_Mutation_p.D326H	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	376					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CCGGCGACTTGACAGTGCACG	0.488													6	54					0	0	0	0	C	99982433	G	C	99982433	3	2	97	1	0	0	0	0	1	0	0	0	9555	1290	45	2	1168	2	METAP1	4	99982433	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	3220180	99982433	91171843	30	18679											
ADH1B	125	broad.mit.edu	37	chr4	100237412	100237413	+	Frame_Shift_Del	DEL	CT	CT	-																															gctctccgggtttttacaaaCtctgcattttccacactgag																										TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:100237412_100237413delCT	ENST00000305046.8	-	4	373_374	c.306_307delAG	c.(304-309)agttfs	p.RV102fs	ADH1B_ENST00000394887.3_Frame_Shift_Del_p.RV62fs			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	102					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTTTTACAAACTCTGCATTTTC	0.386													11	57	---	---	---	---					-	100237413	CT	-	100237412	7	5	97	1	0	1	0	1	0	0	0	0	308	565	20	0	844	0	ADH1B	4	100237412	Frame_Shift_Del	DEL	CT	TCGA-CN-6018-01A-11D-1683-08	254979	100237412	90916864	31	18680											
FAT4	79633	broad.mit.edu	37	chr4	126239489	126239489	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcctgtgtctgggaggttGagtactatttcctccttgga	6	15	12	8	0	1	1	0	1	1	0	4	4	4	3	3	3	1	2	3	3	2	5			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:126239489G>A	ENST00000394329.3	+	1	1936	c.1923G>A	c.(1921-1923)ttG>ttA	p.L641L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	641	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGGGAGGTTGAGTACTATTT	0.567													7	25					0	0	0	0	A	126239489	G	A	126239489	2	1	97	1	0	0	0	0	0	0	0	1	5737	1281	45	2		2	FAT4	4	126239489	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08	26002077	126239489	64914787	32	18681											
FAT1	2195	broad.mit.edu	37	chr4	187630504	187630504	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttatagctgtgttttCaggtaaagaaacgctgtatg	10	14	11	6	1	1	1	1	0	0	1	2	1	2	1	1	2	2	5	1	2	6	6			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:187630504C>A	ENST00000441802.2	-	2	687	c.478G>T	c.(478-480)Gaa>Taa	p.E160*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	160	Cadherin 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTGTGTTTTCAGGTAAAGAA	0.463										HNSCC(5;0.00058)			24	137					7.87624e-14	8.9422e-14	1	0	A	187630504	C	A	187630504	4	1	97	1	0	0	0	0	0	1	0	0	5734	835	29	2	13392	2	FAT1	4	187630504	Nonsense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	61391015	187630504	3523772	33	18682											
COL4A3BP	10087	broad.mit.edu	37	chr5	74801835	74801835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagccttgctaagacagatgGatcctctgcagccatactct	10	10	8	13	0	2	2	0	0	2	2	3	3	3	3	3	1	5	2	3	1	2	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr5:74801835G>A	ENST00000380494.5	-	3	880	c.587C>T	c.(586-588)tCc>tTc	p.S196F	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.S68F|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.S68F	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	68					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		AAGACAGATGGATCCTCTGCA	0.393													6	67					0	0	0	0	A	74801835	G	A	74801835	3	1	97	1	0	0	0	0	1	0	0	0	3722	1174	41	2	1735	2	COL4A3BP	5	74801835	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08		74801835	106113425	34	18683											
VCAN	1462	broad.mit.edu	37	chr5	82834287	82834287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggttcaggaagggctgaCcactctcccacgtagtcctg	7	9	13	12	1	2	1	1	1	1	0	4	2	3	2	3	4	0	3	3	4	2	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr5:82834287C>T	ENST00000265077.3	+	8	6030	c.5465C>T	c.(5464-5466)aCc>aTc	p.T1822I	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T835I|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1822	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAAGGGCTGACCACTCTCCCA	0.488													37	59					0	0	0	0	T	82834287	C	T	82834287	3	4	97	1	0	0	0	0	1	0	0	0	17234	507	18	4	5491	4	VCAN	5	82834287	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	8032452	82834287	98080973	35	18684											
PDGFRB	5159	broad.mit.edu	37	chr5	149512334	149512334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctccgacacgttgcgcGtggacagggcgatttcgcca	6	8	15	12	6	1	0	0	0	1	0	3	3	1	1	2	3	1	1	2	3	0	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr5:149512334G>A	ENST00000261799.4	-	7	1575	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	369	Ig-like C2-type 4.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACGTTGCGCGTGGACAGGGC	0.612			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								4	20					0	0	0	0	A	149512334	G	A	149512334	3	1	97	1	0	0	0	0	1	0	0	0	11733	1145	40	1	2282	1	PDGFRB	5	149512334	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	66678047	149512334	31402926	36	18685											
ATP10B	23120	broad.mit.edu	37	chr5	159992867	159992867	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctgagcttttgagattaGagacttcccacaagttcctt	9	16	7	9	0	1	3	0	2	1	2	3	5	3	3	2	0	1	2	2	0	2	7			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr5:159992867G>C	ENST00000327245.5	-	26	4825	c.3979C>G	c.(3979-3981)Cta>Gta	p.L1327V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1327					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTGAGATTAGAGACTTCCCA	0.443													16	111					0	0	0	0	C	159992867	G	C	159992867	3	2	97	1	0	0	0	0	1	0	0	0	1121	933	33	2	410	2	ATP10B	5	159992867	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	10480533	159992867	20922393	37	18686											
RANBP17	64901	broad.mit.edu	37	chr5	170336684	170336684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttgattattctagaccttCagcaaaacacaggaaaatag	16	10	8	7	0	2	2	1	1	1	1	2	3	2	3	1	2	2	2	1	2	7	6			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr5:170336684C>T	ENST00000523189.1	+	6	673	c.509C>T	c.(508-510)tCa>tTa	p.S170L		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	170					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTAGACCTTCAGCAAAACAC	0.289			T	TRD@	ALL								4	32					0	0	0	0	T	170336684	C	T	170336684	3	4	97	1	0	0	0	0	1	0	0	0	13109	838	29	2	531	2	RANBP17	5	170336684	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	10343817	170336684	10578576	38	18687											
HIST1H1B	3009	broad.mit.edu	37	chr6	27835120	27835130	+	Frame_Shift_Del	DEL	GCCAAAGAAAG	GCCAAAGAAAG	-																															ctaaggccttcttaagggctGccaaagaaaggccattgcgc																										TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:27835120_27835130delGCCAAAGAAAG	ENST00000331442.3	-	1	229_239	c.178_188delCTTTCTTTGGC	c.(178-189)afs	p.LSLA60fs		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	60	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CTTAAGGGCTGCCAAAGAAAGGCCATTGCGC	0.611													9	146	---	---	---	---					-	27835130	GCCAAAGAAAG	-	27835120	7	5	97	1	0	1	0	1	0	0	0	0	7173	1319	46	0	496	0	HIST1H1B	6	27835120	Frame_Shift_Del	DEL	GCCAAAGAAAG	TCGA-CN-6018-01A-11D-1683-08		27835120	143279947	39	18688											
OR2J3	442186	broad.mit.edu	37	chr6	29080240	29080240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacttctgcgattatcGtgtgttgatacccatgtcaa	9	13	8	11	2	2	1	1	1	1	0	3	2	2	1	2	0	3	2	2	0	3	4	rs138982330	by1000genomes	TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:29080240G>A	ENST00000377169.1	+	1	573	c.573G>A	c.(571-573)tcG>tcA	p.S191S		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGCGATTATCGTGTGTTGATA	0.463													19	49					0	0	0	0	A	29080240	G	A	29080240	2	1	97	1	0	0	0	0	0	0	0	1	11075	1132	40	1		1	OR2J3	6	29080240	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08	1245120	29080240	142034827	40	18689											
PIM1	5292	broad.mit.edu	37	chr6	37140900	37140900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atattcctttcgagcatgacGaagagatcatcaggggccag	12	9	11	9	2	2	2	2	1	0	1	4	5	3	2	2	2	1	1	2	2	2	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:37140900G>A	ENST00000373509.5	+	5	1109	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	337	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CGAGCATGACGAAGAGATCAT	0.532			T	BCL6	NHL								11	57					0	0	0	0	A	37140900	G	A	37140900	3	1	97	1	0	0	0	0	1	0	0	0	11999	1059	37	1	754	1	PIM1	6	37140900	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	8060660	37140900	133974167	41	18690											
KCNK5	8645	broad.mit.edu	37	chr6	39158899	39158899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccagcctccgtgttcaCgaaggtgatgctggcgtcct	6	9	14	12	3	1	1	1	1	0	0	3	3	3	1	4	3	2	2	4	3	1	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:39158899C>T	ENST00000359534.3	-	5	1605	c.1267G>A	c.(1267-1269)Gtg>Atg	p.V423M		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	423					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TCCGTGTTCACGAAGGTGATG	0.617													19	26					0	0	0	0	T	39158899	C	T	39158899	3	4	97	1	0	0	0	0	1	0	0	0	8122	536	19	1	236	1	KCNK5	6	39158899	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	2017999	39158899	131956168	42	18691											
MDN1	23195	broad.mit.edu	37	chr6	90368044	90368044	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccttcctctccaaagcctCtggcacctgctcctctgtat	5	13	5	18	0	3	0	0	0	3	0	7	0	6	0	6	1	2	3	6	1	2	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:90368044C>G	ENST00000369393.3	-	90	15182	c.15067G>C	c.(15067-15069)Gag>Cag	p.E5023Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E5023Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5023					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCAAAGCCTCTGGCACCTGC	0.552													17	65					0	0	0	0	G	90368044	C	G	90368044	3	3	97	1	0	0	0	0	1	0	0	0	9484	922	32	2	1775	2	MDN1	6	90368044	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	51209145	90368044	80747023	43	18692											
CDC40	51362	broad.mit.edu	37	chr6	110501792	110501793	+	Frame_Shift_Del	DEL	TC	TC	-																															aatcgccttcatcaaagccgTctctagcagtggcagtggac																										TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:110501792_110501793delTC	ENST00000368932.1	+	2	246_247	c.145_146delTC	c.(145-147)tfs	p.S49fs	CDC40_ENST00000368930.1_Frame_Shift_Del_p.S49fs|CDC40_ENST00000307731.1_Frame_Shift_Del_p.S49fs|CDC40_ENST00000368933.1_Frame_Shift_Del_p.S49fs			O60508	PRP17_HUMAN	cell division cycle 40	49					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		ATCAAAGCCGTCTCTAGCAGTG	0.554													8	41	---	---	---	---					-	110501793	TC	-	110501792	7	5	97	1	0	1	0	1	0	0	0	0	3099	1667	58	0	147	0	CDC40	6	110501792	Frame_Shift_Del	DEL	TC	TCGA-CN-6018-01A-11D-1683-08	20133748	110501792	60613275	44	18693											
AHI1	54806	broad.mit.edu	37	chr6	135769486	135769486	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgttgatgggtaatgatttCttggacattttgaccaccat	9	16	10	6	0	1	3	0	3	1	0	1	4	1	4	2	2	0	2	2	2	1	6			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:135769486C>G	ENST00000367800.4	-	10	1784	c.1568G>C	c.(1567-1569)aGa>aCa	p.R523T	AHI1_ENST00000327035.6_Missense_Mutation_p.R523T|AHI1_ENST00000457866.2_Missense_Mutation_p.R523T	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	523						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GTAATGATTTCTTGGACATTT	0.383													7	32					0	0	0	0	G	135769486	C	G	135769486	3	3	97	1	0	0	0	0	1	0	0	0	413	913	32	2	2151	2	AHI1	6	135769486	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	25267694	135769486	35345581	45	18694											
MAP3K4	4216	broad.mit.edu	37	chr6	161508788	161508788	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgctgaggagaagagtatTattttgcagttactcaatgc	11	14	10	6	0	1	3	1	1	0	2	1	4	1	3	0	1	4	4	0	1	5	6			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:161508788T>C	ENST00000392142.4	+	10	2773	c.2625T>C	c.(2623-2625)atT>atC	p.I875I	MAP3K4_ENST00000366919.2_Silent_p.I875I|MAP3K4_ENST00000366920.2_Silent_p.I875I|MAP3K4_ENST00000348824.7_Silent_p.I875I	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	875					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGAAGAGTATTATTTTGCAGT	0.413													3	82					0	0	0	0	C	161508788	T	C	161508788	2	2	97	1	0	0	0	0	0	0	0	1	9321	1742	61	5		5	MAP3K4	6	161508788	Silent	SNP	T	TCGA-CN-6018-01A-11D-1683-08	25739302	161508788	9606279	46	18695											
SNX8	29886	broad.mit.edu	37	chr7	2317747	2317747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttacctggctggaaacCtcatactccacatgcttcag	10	10	7	14	0	2	0	2	0	0	0	3	1	3	1	4	2	4	3	4	2	3	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr7:2317747C>T	ENST00000222990.3	-	2	330	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	96	PX.				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GGCTGGAAACCTCATACTCCA	0.582													3	53					0	0	0	0	T	2317747	C	T	2317747	2	4	97	1	0	0	0	0	0	0	0	1	14996	680	24	4		4	SNX8	7	2317747	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08		2317747	156820916	47	18696											
TTYH3	80727	broad.mit.edu	37	chr7	2687663	2687663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctggttggcctcatcCgcagctccaagggcatcctg	5	10	13	13	1	1	0	1	0	0	0	4	0	4	0	4	4	2	5	4	4	1	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr7:2687663C>T	ENST00000258796.7	+	5	902	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000407643.1_Intron|TTYH3_ENST00000403167.1_Missense_Mutation_p.R62C	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	233						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TGGCCTCATCCGCAGCTCCAA	0.682													8	51					0	0	0	0	T	2687663	C	T	2687663	3	4	97	1	0	0	0	0	1	0	0	0	16837	652	23	1	715	1	TTYH3	7	2687663	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	369916	2687663	156451000	48	18697											
ZAN	7455	broad.mit.edu	37	chr7	100345764	100345764	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccctttctctccagtttgCcgtggtaggcgtttttggaa	4	16	10	11	2	1	0	0	0	1	0	4	1	3	1	3	3	1	3	3	3	2	5			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr7:100345764C>T	ENST00000542585.1	+	0	1176				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTCCAGTTTGCCGTGGTAGGC	0.587													3	21					0	0	0	0	T	100345764	C	T	100345764	1	4	97	0	1	0	0	0	0	0	0	0	17609	739	26	4		4	ZAN	7	100345764	RNA	SNP	C	TCGA-CN-6018-01A-11D-1683-08	97658101	100345764	58792899	49	18698											
ZC3HC1	51530	broad.mit.edu	37	chr7	129663445	129663445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctcctgttcccatgcttCgggtcactgggcgagttctg	3	14	12	12	2	3	0	1	0	2	0	6	1	4	0	2	2	1	3	2	2	0	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr7:129663445C>T	ENST00000358303.4	-	8	1223	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q	ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R359Q|ZC3HC1_ENST00000360708.5_Intron|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R337Q|RP11-306G20.1_ENST00000480018.1_RNA|RP11-306G20.1_ENST00000587038.1_RNA	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	380					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TCCCATGCTTCGGGTCACTGG	0.617													19	99					0	0	0	0	T	129663445	C	T	129663445	3	4	97	1	0	0	0	0	1	0	0	0	17672	884	31	1	381	1	ZC3HC1	7	129663445	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	29317681	129663445	29475218	50	18699											
TBXAS1	6916	broad.mit.edu	37	chr7	139661761	139661761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcctggatgcccgacattCtgcaagtcccatgggcgtgc	6	9	13	13	2	1	0	0	0	1	0	3	2	3	1	3	3	3	1	3	3	1	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr7:139661761C>T	ENST00000263552.6	+	13	1404	c.866C>T	c.(865-867)tCt>tTt	p.S289F	TBXAS1_ENST00000411653.1_Missense_Mutation_p.S288F|TBXAS1_ENST00000448866.1_Missense_Mutation_p.S288F|TBXAS1_ENST00000425687.1_Missense_Mutation_p.S221F|TBXAS1_ENST00000416849.2_Missense_Mutation_p.S335F|TBXAS1_ENST00000414508.2_Missense_Mutation_p.S289F|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000436047.2_Missense_Mutation_p.S289F|TBXAS1_ENST00000458722.1_Missense_Mutation_p.S334F|TBXAS1_ENST00000336425.5_Missense_Mutation_p.S288F	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	288					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GCCCGACATTCTGCAAGTCCC	0.522													9	26					0	0	0	0	T	139661761	C	T	139661761	3	4	97	1	0	0	0	0	1	0	0	0	15758	913	32	2	1042	2	TBXAS1	7	139661761	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	9998316	139661761	19476902	51	18700											
SH2D4A	63898	broad.mit.edu	37	chr8	19192276	19192276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggctccggataaccagCagactaaagacatctggaag	14	6	11	10	1	1	2	0	0	1	2	2	4	2	4	2	3	3	3	2	3	4	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr8:19192276C>A	ENST00000265807.3	+	4	832	c.421C>A	c.(421-423)Cag>Aag	p.Q141K	SH2D4A_ENST00000518040.1_Missense_Mutation_p.Q96K|SH2D4A_ENST00000519207.1_Missense_Mutation_p.Q141K	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	141						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GGATAACCAGCAGACTAAAGA	0.458													4	40					0.150653	0.152676	1	0	A	19192276	C	A	19192276	3	1	97	1	0	0	0	0	1	0	0	0	14322	711	25	4	481	4	SH2D4A	8	19192276	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08		19192276	127171746	52	18701											
UNC5D	137970	broad.mit.edu	37	chr8	35579850	35579850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgactatggcgtggacGtcattgactcttctgcattg	8	13	12	8	2	3	3	1	2	2	1	3	4	3	4	0	2	1	1	0	2	1	4	rs149536132		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr8:35579850G>A	ENST00000287272.2	+	8	1092	c.1072G>A	c.(1072-1074)Gtc>Atc	p.V358I	UNC5D_ENST00000404895.2_Missense_Mutation_p.V414I|UNC5D_ENST00000453357.2_Missense_Mutation_p.V409I|UNC5D_ENST00000416672.1_Missense_Mutation_p.V419I|UNC5D_ENST00000420357.1_Missense_Mutation_p.V347I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	414	TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity	p.V409F(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGGCGTGGACGTCATTGACTC	0.557													25	144					0	0	0	0	A	35579850	G	A	35579850	3	1	97	1	0	0	0	0	1	0	0	0	17091	1145	40	1	1274	1	UNC5D	8	35579850	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	16387574	35579850	110784172	53	18702											
RALYL	138046	broad.mit.edu	37	chr8	85799988	85799988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgggatagaggaggacttcGatgaagatgggggtcatgag	12	8	18	3	1	1	4	1	2	0	2	2	8	1	7	0	5	0	0	0	5	2	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr8:85799988G>A	ENST00000521268.1	+	8	1940	c.835G>A	c.(835-837)Gat>Aat	p.D279N	RALYL_ENST00000522455.1_Missense_Mutation_p.D279N|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000518566.1_Missense_Mutation_p.D268N|RALYL_ENST00000521695.1_Missense_Mutation_p.D279N|RALYL_ENST00000517638.1_Missense_Mutation_p.D292N|RALYL_ENST00000523850.1_Missense_Mutation_p.D206N	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	279							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GGAGGACTTCGATGAAGATGG	0.458													12	72					0	0	0	0	A	85799988	G	A	85799988	3	1	97	1	0	0	0	0	1	0	0	0	13102	1058	37	1	904	1	RALYL	8	85799988	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	50220138	85799988	60564034	54	18703											
CYP11B2	1585	broad.mit.edu	37	chr8	143999037	143999037	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctgaaaatgggccccagctCctggaaggtctggtgcatct	8	9	12	12	0	2	1	0	1	2	0	3	2	3	2	4	4	2	2	4	4	3	0			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr8:143999037C>G	ENST00000323110.2	-	1	222	c.220G>C	c.(220-222)Gag>Cag	p.E74Q		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	74					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGCCCCAGCTCCTGGAAGGTC	0.637									Familial Hyperaldosteronism type I				12	58					0	0	0	0	G	143999037	C	G	143999037	3	3	97	1	0	0	0	0	1	0	0	0	4178	864	30	2	1327	2	CYP11B2	8	143999037	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	58199049	143999037	2364985	55	18704											
ABCA1	19	broad.mit.edu	37	chr9	107558478	107558478	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgagaggtgtgattgaccaCctgttgagacacaaaaagat	15	9	11	6	0	0	5	0	4	0	3	0	7	0	5	2	1	0	1	2	1	2	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr9:107558478C>G	ENST00000374736.3	-	39	5632	c.5237_splice	c.e39-1	p.G1746_splice		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1746				Missing (in Ref. 7; AAD49852).	Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGATTGACCACCTGTTGAGAC	0.512													24	25					0	0	0	0	G	107558478	C	G	107558478	5	3	97	1	0	0	0	0	0	0	1	0	28	521	18	4	1595	4	ABCA1	9	107558478	Splice_Site	SNP	C	TCGA-CN-6018-01A-11D-1683-08		107558478	33654953	56	18705											
ABL1	25	broad.mit.edu	37	chr9	133760623	133760623	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcccagcccccgttccCtccacgttgccatcagcatc	7	8	6	20	2	2	0	2	0	0	0	5	0	4	0	6	0	4	3	6	0	0	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr9:133760623C>A	ENST00000318560.5	+	11	3327	c.2946C>A	c.(2944-2946)ccC>ccA	p.P982P		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	982	F-actin-binding.|Pro-rich.			P -> PL (in Ref. 1; AAA51561).	actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|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|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|SH3 domain 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)	CCCCCGTTCCCTCCACGTTGC	0.657			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								3	55					0.115264	0.120034	1	0	A	133760623	C	A	133760623	2	1	97	1	0	0	0	0	0	0	0	1	92	668	24	4		4	ABL1	9	133760623	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08	26202145	133760623	7452808	57	18706											
DLG5	9231	broad.mit.edu	37	chr10	79555860	79555860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacgccacagtggtcacatCgaaatggccgcttctccgct	8	9	10	14	4	2	1	1	1	1	0	4	2	2	1	3	2	0	2	3	2	1	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr10:79555860C>T	ENST00000372391.2	-	29	5400	c.5395G>A	c.(5395-5397)Gat>Aat	p.D1799N	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.D1459N	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1799	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTGGTCACATCGAAATGGCCG	0.517													19	52					0	0	0	0	T	79555860	C	T	79555860	3	4	97	1	0	0	0	0	1	0	0	0	4595	884	31	1	380	1	DLG5	10	79555860	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08		79555860	55978887	58	18707											
MYOF	26509	broad.mit.edu	37	chr10	95191243	95191243	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggtcaccagtcaggtcCttcagggctacagtcgccgt	6	10	11	14	2	4	0	3	0	1	0	6	0	5	0	3	3	1	1	3	3	1	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr10:95191243C>A	ENST00000371501.4	-	4	389	c.267G>T	c.(265-267)aaG>aaT	p.K89N	MYOF_ENST00000359263.4_Missense_Mutation_p.K89N|MYOF_ENST00000358334.5_Missense_Mutation_p.K89N|MYOF_ENST00000371502.4_Missense_Mutation_p.K89N|MYOF_ENST00000371488.3_Missense_Mutation_p.K89N|MYOF_ENST00000371489.1_Missense_Mutation_p.K89N			Q9NZM1	MYOF_HUMAN	myoferlin	89					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGTCAGGTCCTTCAGGGCTA	0.498													11	27					0.000673444	0.000716127	1	0	A	95191243	C	A	95191243	3	1	97	1	0	0	0	0	1	0	0	0	10159	680	24	4	6122	4	MYOF	10	95191243	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	15635383	95191243	40343504	59	18708											
MUC2	4583	broad.mit.edu	37	chr11	1098725	1098725	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agctgcttcatgccgggctcGagcctggagtgcgccagtct	5	9	14	13	3	2	0	1	0	1	0	3	2	2	1	3	2	5	3	3	2	0	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:1098725G>C	ENST00000441003.2	+	37	7122	c.7095G>C	c.(7093-7095)tcG>tcC	p.S2365S	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4727						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGCCGGGCTCGAGCCTGGAGT	0.647													2	5					0	0	0	0	C	1098725	G	C	1098725	2	2	97	1	0	0	0	0	0	0	0	1	10045	1045	37	3		3	MUC2	11	1098725	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08		1098725	133907791	60	18709											
ZNF195	7748	broad.mit.edu	37	chr11	3380843	3380843	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcttcacattggtaGggtttctctccggtgtgaat	7	15	9	10	1	3	1	1	1	2	0	5	1	4	1	2	3	0	2	2	3	2	5			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:3380843G>T	ENST00000354599.6	-	4	1283	c.1179C>A	c.(1177-1179)ccC>ccA	p.P393P	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.P397P|ZNF195_ENST00000399602.4_Silent_p.P465P|ZNF195_ENST00000526601.1_Silent_p.P446P|ZNF195_ENST00000429541.2_Silent_p.P397P|ZNF195_ENST00000005082.9_Silent_p.P442P	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	465				Missing (in Ref. 2; BAD18466).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CACATTGGTAGGGTTTCTCTC	0.443													17	55					7.07596e-05	7.74254e-05	1	0	T	3380843	G	T	3380843	2	4	97	1	0	0	0	0	0	0	0	1	17853	987	35	4		4	ZNF195	11	3380843	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08	2282118	3380843	131625673	61	18710											
TMEM179B	374395	broad.mit.edu	37	chr11	62556844	62556844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgtctgcctgtatccttcGatttggcaccaggtctctct	4	15	10	12	1	3	0	0	0	3	0	6	1	4	0	3	3	1	2	3	3	1	3	rs146539259		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:62556844G>A	ENST00000333449.4	+	3	370	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_Missense_Mutation_p.R122Q	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	122						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						TGTATCCTTCGATTTGGCACC	0.537													5	29					0	0	0	0	A	62556844	G	A	62556844	3	1	97	1	0	0	0	0	1	0	0	0	16191	1058	37	1	375	1	TMEM179B	11	62556844	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	59176001	62556844	72449672	62	18711											
LTBP3	4054	broad.mit.edu	37	chr11	65315474	65315474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggggcccggcacgcactctCcgtggccacagatgttctgg	5	7	15	14	3	2	1	0	0	2	1	3	1	2	1	3	5	0	3	3	5	0	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:65315474C>T	ENST00000301873.5	-	12	2031	c.1763G>A	c.(1762-1764)gGa>gAa	p.G588E	LTBP3_ENST00000536982.1_Missense_Mutation_p.G214E|LTBP3_ENST00000322147.4_Missense_Mutation_p.G588E|LTBP3_ENST00000532932.1_Missense_Mutation_p.G18E	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	588	Cys-rich.|EGF-like 3.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CACGCACTCTCCGTGGCCACA	0.657													13	49					0	0	0	0	T	65315474	C	T	65315474	3	4	97	1	0	0	0	0	1	0	0	0	9139	855	30	2	2216	2	LTBP3	11	65315474	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	2758630	65315474	69691042	63	18712											
GDPD4	220032	broad.mit.edu	37	chr11	76969569	76969569	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtcaaagtcatgcatgagGaaaggcacatgatcataact	16	8	10	7	0	3	2	3	2	0	0	3	3	3	3	0	3	2	2	0	3	3	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:76969569G>A	ENST00000315938.4	-	10	976	c.726C>T	c.(724-726)ttC>ttT	p.F242F	GDPD4_ENST00000376217.2_Silent_p.F242F	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	242	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CATGCATGAGGAAAGGCACAT	0.478													30	109					0	0	0	0	A	76969569	G	A	76969569	2	1	97	1	0	0	0	0	0	0	0	1	6377	1165	41	2		2	GDPD4	11	76969569	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08	11654095	76969569	58036947	64	18713											
DLG2	1740	broad.mit.edu	37	chr11	83770508	83770508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatcaacctcattcacccGcaagatacaatcattgaccc	14	8	3	16	1	4	2	4	1	0	1	4	2	4	2	3	0	2	1	3	0	4	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:83770508G>A	ENST00000398309.2	-	6	924	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	DLG2_ENST00000524982.1_Missense_Mutation_p.R152W|DLG2_ENST00000376104.2_Missense_Mutation_p.R257W|DLG2_ENST00000280241.8_Missense_Mutation_p.R191W|DLG2_ENST00000531015.1_Missense_Mutation_p.R119W|DLG2_ENST00000418306.2_Missense_Mutation_p.R101W|DLG2_ENST00000398301.2_Missense_Mutation_p.R191W|DLG2_ENST00000543673.1_Missense_Mutation_p.R257W|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.R91W|DLG2_ENST00000532653.1_Missense_Mutation_p.R152W	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	152	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCATTCACCCGCAAGATACAA	0.443													3	22					0	0	0	0	A	83770508	G	A	83770508	3	1	97	1	0	0	0	0	1	0	0	0	4592	1086	38	1	2280	1	DLG2	11	83770508	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	6800939	83770508	51236008	65	18714											
EXPH5	23086	broad.mit.edu	37	chr11	108385200	108385200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctctgagttgtggctGgaaaatgtaagcttcttgct	7	16	11	7	0	3	1	0	1	3	0	3	2	3	2	0	2	3	6	0	2	3	5			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:108385200G>A	ENST00000265843.4	-	6	1144	c.1034C>T	c.(1033-1035)cCa>cTa	p.P345L	EXPH5_ENST00000525344.1_Missense_Mutation_p.P338L|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.P269L|EXPH5_ENST00000443411.1_Missense_Mutation_p.P157L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	345					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGTTGTGGCTGGAAAATGTAA	0.468													4	85					0	0	0	0	A	108385200	G	A	108385200	3	1	97	1	0	0	0	0	1	0	0	0	5360	1348	47	4	4939	4	EXPH5	11	108385200	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	24614692	108385200	26621316	66	18715											
DSCAML1	57453	broad.mit.edu	37	chr11	117335712	117335712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagggccccgtgccagcccGattgaaggcttggaccacca	9	5	13	14	2	0	2	0	1	0	1	0	4	0	3	6	3	2	1	6	3	1	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:117335712G>A	ENST00000321322.6	-	17	3392	c.3391C>T	c.(3391-3393)Cgg>Tgg	p.R1131W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R861W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1071	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGCCAGCCCGATTGAAGGCT	0.617													18	62					0	0	0	0	A	117335712	G	A	117335712	3	1	97	1	0	0	0	0	1	0	0	0	4805	1057	37	1	3018	1	DSCAML1	11	117335712	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	8950512	117335712	17670804	67	18716											
ABCG4	64137	broad.mit.edu	37	chr11	119029006	119029006	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcacacagttctgcatcctCttcaagaggaccttcctgtc	8	12	6	15	0	4	1	2	0	2	1	7	2	6	2	3	1	1	2	3	1	1	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:119029006C>G	ENST00000307417.3	+	10	1495	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	ABCG4_ENST00000531739.1_Silent_p.L377L|ABCG4_ENST00000449422.2_Silent_p.L377L	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	377					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCTGCATCCTCTTCAAGAGGA	0.572													42	315					0	0	0	0	G	119029006	C	G	119029006	2	3	97	1	0	0	0	0	0	0	0	1	70	900	32	2		2	ABCG4	11	119029006	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08	1693294	119029006	15977510	68	18717											
BSX	390259	broad.mit.edu	37	chr11	122850040	122850040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacaggtagcgctggatctCgaacctcttctccaagcccg	8	8	11	14	3	3	0	0	0	3	0	5	3	3	2	3	3	3	2	3	3	3	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:122850040C>T	ENST00000343035.2	-	2	436	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	130										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CGCTGGATCTCGAACCTCTTC	0.682													10	98					0	0	0	0	T	122850040	C	T	122850040	3	4	97	1	0	0	0	0	1	0	0	0	1543	893	31	1	320	1	BSX	11	122850040	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	3821034	122850040	12156476	69	18718											
FAM118B	79607	broad.mit.edu	37	chr11	126126666	126126666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaaggggattaaagtcAtctcctatggagatgactat	13	11	11	6	0	2	2	1	1	1	1	3	5	2	4	1	4	0	0	1	4	5	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:126126666A>G	ENST00000533050.1	+	7	1394	c.901A>G	c.(901-903)Atc>Gtc	p.I301V	FAM118B_ENST00000360194.4_Missense_Mutation_p.I301V	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	301										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		GATTAAAGTCATCTCCTATGG	0.433													53	168					0	0	0	0	G	126126666	A	G	126126666	3	3	97	1	0	0	0	0	1	0	0	0	5453	217	8	5	919	5	FAM118B	11	126126666	Missense_Mutation	SNP	A	TCGA-CN-6018-01A-11D-1683-08	3276626	126126666	8879850	70	18719											
WNK1	65125	broad.mit.edu	37	chr12	970337	970337	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagtctcaaacagcaggtAgaacaatccagtgcttccca	14	7	8	12	0	1	1	1	0	1	1	4	1	3	1	2	1	5	4	2	1	4	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:970337A>G	ENST00000537687.1	+	7	2422	c.1779A>G	c.(1777-1779)gtA>gtG	p.V593V	WNK1_ENST00000340908.4_Silent_p.V186V|WNK1_ENST00000530271.2_Silent_p.V593V|WNK1_ENST00000535572.1_Silent_p.V593V|WNK1_ENST00000315939.6_Silent_p.V593V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	593					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AACAGCAGGTAGAACAATCCA	0.473													25	85					0	0	0	0	G	970337	A	G	970337	2	3	97	1	0	0	0	0	0	0	0	1	17473	407	15	5		5	WNK1	12	970337	Silent	SNP	A	TCGA-CN-6018-01A-11D-1683-08		970337	132881558	71	18720											
PAN2	9924	broad.mit.edu	37	chr12	56718209	56718209	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctgaggcctcatctgaGtcagccaggattagaccgag	9	9	12	11	1	3	3	2	2	1	1	3	5	3	4	4	2	2	0	4	2	1	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:56718209G>A	ENST00000425394.2	-	12	2173	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	PAN2_ENST00000548043.1_Silent_p.D599D|PAN2_ENST00000257931.5_Silent_p.D599D|PAN2_ENST00000440411.3_Silent_p.D599D	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	599					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCTCATCTGAGTCAGCCAGGA	0.498													5	51					0	0	0	0	A	56718209	G	A	56718209	2	1	97	1	0	0	0	0	0	0	0	1	11485	1020	36	4		4	PAN2	12	56718209	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08	55747872	56718209	77133686	72	18721											
TMTC2	160335	broad.mit.edu	37	chr12	83359465	83359465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctcatgcacacaagagctCtgttaccagttgtttgtaca	10	12	7	12	0	2	1	1	0	1	1	2	1	2	1	2	0	4	6	2	0	3	4			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:83359465C>G	ENST00000549919.1	+	7	3598	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	TMTC2_ENST00000548305.1_Missense_Mutation_p.S604C|TMTC2_ENST00000321196.3_Missense_Mutation_p.S604C			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	604						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CACAAGAGCTCTGTTACCAGT	0.488													4	71					0	0	0	0	G	83359465	C	G	83359465	3	3	97	1	0	0	0	0	1	0	0	0	16355	913	32	2	1833	2	TMTC2	12	83359465	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	26641256	83359465	50492430	73	18722											
WSCD2	9671	broad.mit.edu	37	chr12	108634156	108634156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccactggcgcagcggaCggaccatctgcatcaagacg	10	4	14	13	4	2	1	1	0	1	1	2	4	2	4	2	4	2	2	2	4	1	0			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:108634156C>T	ENST00000332082.4	+	9	1998	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	WSCD2_ENST00000261400.3_Missense_Mutation_p.R394W|WSCD2_ENST00000549903.1_Missense_Mutation_p.R394W|WSCD2_ENST00000547525.1_Missense_Mutation_p.R394W			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	394						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCGCAGCGGACGGACCATCTG	0.617													12	147					0	0	0	0	T	108634156	C	T	108634156	3	4	97	1	0	0	0	0	1	0	0	0	17503	527	19	1	1206	1	WSCD2	12	108634156	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	25274691	108634156	25217739	74	18723											
UBE3B	89910	broad.mit.edu	37	chr12	109972413	109972413	+	Silent	SNP	G	G	T																															caggacaccggggacactctGggcagcgtcctccggggctt																										TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:109972413G>T	ENST00000342494.3	+	28	3628	c.3033G>T	c.(3031-3033)ctG>ctT	p.L1011L	UBE3B_ENST00000434735.2_Silent_p.L1011L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1011	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGGACACTCTGGGCAGCGTCC	0.652													12	41					7.03913e-09	7.8155e-09	1	0	T	109972413	G	T	109972413	2	4	97	1	0	0	0	0	0	0	0	1	16976	1335	47	4		4	UBE3B	12	109972413	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08	1338257	109972413	23879482	75	18724	153	2									
UBE3B	89910	broad.mit.edu	37	chr12	109972414	109972414	+	Missense_Mutation	SNP	G	G	T																															aggacaccggggacactctgGgcagcgtcctccggggcttc																										TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:109972414G>T	ENST00000342494.3	+	28	3629	c.3034G>T	c.(3034-3036)Ggc>Tgc	p.G1012C	UBE3B_ENST00000434735.2_Missense_Mutation_p.G1012C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1012	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGACACTCTGGGCAGCGTCCT	0.652													12	40					7.03913e-09	7.8155e-09	1	0	T	109972414	G	T	109972414	3	4	97	1	0	0	0	0	1	0	0	0	16976	1232	43	4	3136	4	UBE3B	12	109972414	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	1	109972414	23879481	76	18725	153	2									
POLE	5426	broad.mit.edu	37	chr12	133202825	133202825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggcctcctcggagaactCgccgacatccaccaggcgaa	9	5	11	16	4	0	1	0	0	0	1	4	4	2	1	5	3	1	0	5	3	2	0			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:133202825C>T	ENST00000320574.5	-	46	6452	c.6409G>A	c.(6409-6411)Gag>Aag	p.E2137K	POLE_ENST00000535270.1_Missense_Mutation_p.E2110K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2137					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCGGAGAACTCGCCGACATCC	0.602								DNA polymerases (catalytic subunits)					4	25					0	0	0	0	T	133202825	C	T	133202825	3	4	97	1	0	0	0	0	1	0	0	0	12268	893	31	1	467	1	POLE	12	133202825	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	23230411	133202825	649070	77	18726											
SACS	26278	broad.mit.edu	37	chr13	23906534	23906534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccaagttctaaaggtagCttgtacaaataaggtttaaa	15	12	9	5	0	1	0	0	0	1	0	1	0	1	0	1	2	3	5	1	2	9	8			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr13:23906534C>T	ENST00000382298.3	-	10	12069	c.11481G>A	c.(11479-11481)aaG>aaA	p.K3827K	SACS_ENST00000402364.1_Silent_p.K3077K|SACS_ENST00000382292.3_Silent_p.K3827K	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3827					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTAAAGGTAGCTTGTACAAAT	0.358													14	54					0	0	0	0	T	23906534	C	T	23906534	2	4	97	1	0	0	0	0	0	0	0	1	13889	796	28	4		4	SACS	13	23906534	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08		23906534	91263344	78	18727											
STARD13	90627	broad.mit.edu	37	chr13	33703846	33703846	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacttgccagagcatgggAgcccttttctgcaggcaggt	7	10	13	11	1	1	1	0	0	1	1	2	3	1	2	2	3	4	3	2	3	0	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr13:33703846A>T	ENST00000336934.5	-	5	1084	c.968T>A	c.(967-969)cTc>cAc	p.L323H	STARD13_ENST00000399365.3_Missense_Mutation_p.L205H|STARD13_ENST00000255486.4_Missense_Mutation_p.L315H	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	323					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGAGCATGGGAGCCCTTTTCT	0.597													4	42					0	0	0	0	T	33703846	A	T	33703846	3	4	97	1	0	0	0	0	1	0	0	0	15346	304	11	5	2413	5	STARD13	13	33703846	Missense_Mutation	SNP	A	TCGA-CN-6018-01A-11D-1683-08	9797312	33703846	81466032	79	18728											
GPC5	2262	broad.mit.edu	37	chr13	92345977	92345977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctggcgcacatggcggagCttaatccacactggcatgca	9	7	12	13	2	0	0	0	0	0	0	1	1	1	1	2	4	2	4	2	4	1	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr13:92345977C>A	ENST00000377067.3	+	3	1234	c.862C>A	c.(862-864)Ctt>Att	p.L288I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	288						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CATGGCGGAGCTTAATCCACA	0.532													7	61					0.00307968	0.00325197	1	0	A	92345977	C	A	92345977	3	1	97	1	0	0	0	0	1	0	0	0	6650	797	28	4	872	4	GPC5	13	92345977	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	58642131	92345977	22823901	80	18729											
LRFN5	145581	broad.mit.edu	37	chr14	42356945	42356945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacacaaatagtggatcttCatataattaagctccctcac	15	11	4	11	0	3	0	2	0	1	0	4	1	4	1	1	1	2	1	1	1	6	5			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr14:42356945C>T	ENST00000554171.1	+	5	3549	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	LRFN5_ENST00000554120.1_Missense_Mutation_p.H373Y|LRFN5_ENST00000298119.4_Missense_Mutation_p.H373Y			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	373	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGTGGATCTTCATATAATTAA	0.403										HNSCC(30;0.082)			11	54					0	0	0	0	T	42356945	C	T	42356945	3	4	97	1	0	0	0	0	1	0	0	0	9005	826	29	2	1119	2	LRFN5	14	42356945	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08		42356945	64992595	81	18730											
SAV1	60485	broad.mit.edu	37	chr14	51132173	51132173	+	Frame_Shift_Del	DEL	T	T	-																															taatctgttgctttctcttcTcattatttcatgaggtgttc																										TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr14:51132173delT	ENST00000324679.4	-	2	622	c.259delA	c.(259-261)gafs	p.R88fs		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	88					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CTTTCTCTTCTCATTATTTCA	0.393													11	18	---	---	---	---					-	51132173	T	-	51132173	7	5	97	1	0	1	0	1	0	0	0	0	13942	1559	54	0	908	0	SAV1	14	51132173	Frame_Shift_Del	DEL	T	TCGA-CN-6018-01A-11D-1683-08	8775228	51132173	56217367	82	18731											
MTHFD1	4522	broad.mit.edu	37	chr14	64855016	64855036	+	In_Frame_Del	DEL	GCGCAGGCGCAGTAGTGTGAT	GCGCAGGCGCAGTAGTGTGAT	-																															agggggagaagcgggcagggGcgcaggcgcagtagtgtgat																										TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr14:64855016_64855036delGCGCAGGCGCAGTAGTGTGAT	ENST00000545908.1	+	1	268_288	c.39_59delGCGCAGGCGCAGTAGTGTGAT	c.(37-60)ggc>gg	p.GRRRSSVI13del	MTHFD1_ENST00000555709.1_5'UTR|MTHFD1_ENST00000555252.1_5'UTR|MTHFD1_ENST00000216605.7_In_Frame_Del_p.GRRRSSVI13del			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	0	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GCGGGCAGGGGCGCAGGCGCAGTAGTGTGATCCCCTGGCCA	0.638													11	5	---	---	---	---					-	64855036	GCGCAGGCGCAGTAGTGTGAT	-	64855016	7	5	97	1	0	1	0	1	0	0	0	0	9997	1218	42	0		0	MTHFD1	14	64855016	In_Frame_Del	DEL	GCGCAGGCGCAGTAGTGTGAT	TCGA-CN-6018-01A-11D-1683-08	13722843	64855016	42494524	83	18732											
NRXN3	9369	broad.mit.edu	37	chr14	79933658	79933658	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcggtctgaccgccttgcCgtgggcttcagcaccactgt	5	9	12	15	4	2	1	1	1	1	0	2	1	2	1	4	2	2	2	4	2	0	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr14:79933658C>T	ENST00000281127.7	+	2	1221	c.342C>T	c.(340-342)gcC>gcT	p.A114A	NRXN3_ENST00000335750.5_Silent_p.A746A|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Silent_p.A746A|NRXN3_ENST00000557594.1_Silent_p.A114A|NRXN3_ENST00000428277.2_Silent_p.A114A	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	114	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)		ACCGCCTTGCCGTGGGCTTCA	0.577													15	50					0	0	0	0	T	79933658	C	T	79933658	2	4	97	1	0	0	0	0	0	0	0	1	10738	639	23	1		1	NRXN3	14	79933658	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08	15078642	79933658	27415882	84	18733											
SLC12A6	9990	broad.mit.edu	37	chr15	34549914	34549914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccaccacccatgtaaggcGtaaaaaaaggatcactccaa	16	5	7	13	1	1	0	1	0	0	0	2	1	2	1	4	2	0	2	4	2	6	2	rs121908429		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:34549914G>A	ENST00000354181.3	-	6	1111	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	SLC12A6_ENST00000397702.2_Missense_Mutation_p.R148C|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R192C|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R156C|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R207C|SLC12A6_ENST00000560164.1_Intron|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000451844.2_Intron|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R198C|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R207C|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R148C			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	207					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CATGTAAGGCGTAAAAAAAGG	0.443													3	30					0	0	0	0	A	34549914	G	A	34549914	3	1	97	1	0	0	0	0	1	0	0	0	14475	1145	40	1	2917	1	SLC12A6	15	34549914	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08		34549914	67981478	85	18734											
RASGRP1	10125	broad.mit.edu	37	chr15	38805096	38805096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttgcacagagcaatagatCgctccatggtggggttttcc	8	11	12	10	2	0	2	0	0	0	2	3	2	2	2	2	3	2	5	2	3	2	4			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:38805096C>T	ENST00000310803.5	-	7	914	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	RASGRP1_ENST00000539159.1_Missense_Mutation_p.R198Q|RASGRP1_ENST00000561180.1_Missense_Mutation_p.R297Q|RASGRP1_ENST00000559830.1_Missense_Mutation_p.R246Q|RASGRP1_ENST00000558164.1_Missense_Mutation_p.R246Q|RASGRP1_ENST00000450598.2_Missense_Mutation_p.R246Q	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	246	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	p.R246Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGCAATAGATCGCTCCATGGT	0.468													3	18					0	0	0	0	T	38805096	C	T	38805096	3	4	97	1	0	0	0	0	1	0	0	0	13156	884	31	1	1700	1	RASGRP1	15	38805096	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	4255182	38805096	63726296	86	18735											
TGM5	9333	broad.mit.edu	37	chr15	43552685	43552685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggttgaaggcctggccccGgcgaacaagcaggtggtcca	9	5	16	11	2	0	1	0	1	0	0	1	3	1	1	4	6	2	2	4	6	3	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:43552685G>A	ENST00000220420.5	-	2	110	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	TGM5_ENST00000349114.4_Missense_Mutation_p.R35W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	35					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCCTGGCCCCGGCGAACAAGC	0.572													18	134					0	0	0	0	A	43552685	G	A	43552685	3	1	97	1	0	0	0	0	1	0	0	0	15927	1115	39	1	2107	1	TGM5	15	43552685	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	4747589	43552685	58978707	87	18736											
ALDH1A2	8854	broad.mit.edu	37	chr15	58256141	58256141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactacgcgcctcttggccCgctccacgcttcttctcaca	5	10	6	20	4	3	0	1	0	3	0	5	0	4	0	4	1	1	2	4	1	1	4			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:58256141C>T	ENST00000249750.4	-	9	1795	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R305Q|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R314Q|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R247Q|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R322Q	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	343					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCTCTTGGCCCGCTCCACGCT	0.527													9	56					0	0	0	0	T	58256141	C	T	58256141	3	4	97	1	0	0	0	0	1	0	0	0	491	652	23	1	548	1	ALDH1A2	15	58256141	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	14703456	58256141	44275251	88	18737											
KIAA1024	23251	broad.mit.edu	37	chr15	79749234	79749234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaatgaggagccatttGtggtccagtcctgtgtccag	7	13	11	10	0	0	1	0	1	0	0	4	2	4	2	5	2	1	0	5	2	1	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:79749234G>T	ENST00000305428.3	+	2	820	c.745G>T	c.(745-747)Gtg>Ttg	p.V249L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	249						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGAGCCATTTGTGGTCCAGTC	0.478													5	69					0.184627	0.185858	1	0	T	79749234	G	T	79749234	3	4	97	1	0	0	0	0	1	0	0	0	8256	1377	48	4	747	4	KIAA1024	15	79749234	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	21493093	79749234	22782158	89	18738											
KIAA1024	23251	broad.mit.edu	37	chr15	79755583	79755583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagttggccgaggtgaagCggggccaaccttcttggacc	7	7	15	12	3	1	1	0	1	1	0	1	4	1	2	5	5	2	1	5	5	2	3	rs61746211	byFrequency	TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:79755583C>T	ENST00000305428.3	+	3	2548	c.2473C>T	c.(2473-2475)Cgg>Tgg	p.R825W		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	825						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CGAGGTGAAGCGGGGCCAACC	0.617													7	63					0	0	0	0	T	79755583	C	T	79755583	3	4	97	1	0	0	0	0	1	0	0	0	8256	759	27	1	2479	1	KIAA1024	15	79755583	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	6349	79755583	22775809	90	18739											
ARNT2	9915	broad.mit.edu	37	chr15	80845025	80845025	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgaatgggatgtcggtGcccacagagttcttatcccg	9	10	12	10	2	1	2	0	1	1	1	3	4	2	3	2	2	1	1	2	2	2	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:80845025G>A	ENST00000533983.1	+	11	1305	c.966G>A	c.(964-966)gtG>gtA	p.V322V	ARNT2_ENST00000303329.4_Silent_p.V333V|ARNT2_ENST00000527771.1_Silent_p.V322V			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	333					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGATGTCGGTGCCCACAGAGT	0.498													9	85					0	0	0	0	A	80845025	G	A	80845025	2	1	97	1	0	0	0	0	0	0	0	1	970	1306	46	4		4	ARNT2	15	80845025	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08	1089442	80845025	21686367	91	18740											
KIAA1199	57214	broad.mit.edu	37	chr15	81181835	81181835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagtggacggagtggttcGatcatgataaagtatctcag	11	11	14	5	2	2	1	2	1	1	0	4	5	2	4	0	4	0	2	0	4	3	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:81181835G>A	ENST00000394685.3	+	10	1407	c.988G>A	c.(988-990)Gat>Aat	p.D330N	KIAA1199_ENST00000356249.5_Missense_Mutation_p.D330N|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D330N			Q8WUJ3	K1199_HUMAN	KIAA1199	330										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGAGTGGTTCGATCATGATAA	0.473													5	57					0	0	0	0	A	81181835	G	A	81181835	3	1	97	1	0	0	0	0	1	0	0	0	8264	1058	37	1	1018	1	KIAA1199	15	81181835	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	336810	81181835	21349557	92	18741											
NUP93	9688	broad.mit.edu	37	chr16	56875619	56875619	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttctctctatgtagatCaggcacaacctctcagaagt	10	14	7	10	0	4	2	2	0	3	2	6	2	4	2	1	1	1	3	1	1	4	4			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr16:56875619C>A	ENST00000564887.1	+	19	2483	c.1854C>A	c.(1852-1854)atC>atA	p.I618I	NUP93_ENST00000308159.5_Silent_p.I741I|NUP93_ENST00000569842.1_Silent_p.I741I|NUP93_ENST00000542526.1_Silent_p.I618I	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	741					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTATGTAGATCAGGCACAACC	0.522													16	113					4.14922e-12	4.67561e-12	1	0	A	56875619	C	A	56875619	2	1	97	1	0	0	0	0	0	0	0	1	10843	816	29	2		2	NUP93	16	56875619	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08		56875619	33479134	93	18742											
DOK4	55715	broad.mit.edu	37	chr16	57509069	57509069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggttctcccagactgatgtCgttgaggcgggaccccagac	8	8	13	12	2	1	4	0	2	1	2	3	5	1	5	3	3	0	2	3	3	0	2	rs111834942	byFrequency	TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr16:57509069C>T	ENST00000566936.1	-	4	649	c.352G>A	c.(352-354)Gac>Aac	p.D118N	DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000340099.4_Missense_Mutation_p.D118N|DOK4_ENST00000569548.1_Missense_Mutation_p.D118N			Q8TEW6	DOK4_HUMAN	docking protein 4	118							insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						AGACTGATGTCGTTGAGGCGG	0.612													21	90					0	0	0	0	T	57509069	C	T	57509069	3	4	97	1	0	0	0	0	1	0	0	0	4735	884	31	1	648	1	DOK4	16	57509069	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	633450	57509069	32845684	94	18743											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	30					0	0	0	0	A	7577539	G	A	7577539	3	1	97	1	0	0	0	0	1	0	0	0	16476	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08		7577539	73617671	95	18744											
ZNF18	7566	broad.mit.edu	37	chr17	11895781	11895781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattgccacagtctctggggGtcccccttcaagctttccac	6	11	8	16	0	2	0	1	0	1	0	5	0	4	0	4	2	2	1	4	2	1	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:11895781G>T	ENST00000322748.3	-	4	970	c.366C>A	c.(364-366)gaC>gaA	p.D122E	ZNF18_ENST00000580613.1_Missense_Mutation_p.D71E|ZNF18_ENST00000454073.3_Missense_Mutation_p.D122E|ZNF18_ENST00000580306.1_Missense_Mutation_p.D122E	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	122	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GTCTCTGGGGGTCCCCCTTCA	0.537													8	57					5.18039e-06	5.70977e-06	1	0	T	11895781	G	T	11895781	3	4	97	1	0	0	0	0	1	0	0	0	17842	1252	44	4	1307	4	ZNF18	17	11895781	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	4318242	11895781	69299429	96	18745											
CCDC144NL	339184	broad.mit.edu	37	chr17	20799105	20799105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccaagatcttccaggcGgacatcgtgctggagctggt	7	9	13	12	3	1	1	0	0	1	1	4	3	2	3	2	4	2	2	2	4	1	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:20799105G>A	ENST00000327925.5	-	1	348	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	77										large_intestine(3)|lung(3)|skin(1)	7						TCTTCCAGGCGGACATCGTGC	0.642													15	69					0	0	0	0	A	20799105	G	A	20799105	3	1	97	1	0	0	0	0	1	0	0	0	2804	1116	39	1	452	1	CCDC144NL	17	20799105	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	8903324	20799105	60396105	97	18746											
KCNJ12	3768	broad.mit.edu	37	chr17	21319815	21319815	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccttcctgagccgtgaCgaggaggatgaggcggacgg	7	6	18	10	4	0	3	0	3	0	0	1	7	1	6	3	6	1	0	3	6	0	1	rs144041366		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:21319815C>T	ENST00000583088.1	+	3	2056	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D	KCNJ12_ENST00000331718.5_Silent_p.D387D	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TGAGCCGTGACGAGGAGGATG	0.662										Prostate(3;0.18)			4	58					0	0	0	0	T	21319815	C	T	21319815	2	4	97	1	0	0	0	0	0	0	0	1	8099	535	19	1		1	KCNJ12	17	21319815	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08	520710	21319815	59875395	98	18747											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29855551	29855551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccagaaggagcgggaggCgacgcaggaggtaggtccca	10	4	18	9	3	0	1	0	0	0	1	2	5	2	4	2	6	1	3	2	6	2	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:29855551C>A	ENST00000325874.8	+	12	1713	c.1484C>A	c.(1483-1485)gCg>gAg	p.A495E	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.A393E	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	495	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GAGCGGGAGGCGACGCAGGAG	0.612													3	50					0.150653	0.152676	1	0	A	29855551	C	A	29855551	3	1	97	1	0	0	0	0	1	0	0	0	12978	768	27	3	1530	3	RAB11FIP4	17	29855551	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	8535736	29855551	51339659	99	18748											
HNF1B	6928	broad.mit.edu	37	chr17	36091644	36091644	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggggagccgtgggagagCagagggttcaggctgtgagt	7	7	22	5	1	1	3	1	1	0	2	1	5	1	4	1	6	2	3	1	6	0	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:36091644C>T	ENST00000225893.4	-	4	1348	c.987G>A	c.(985-987)ctG>ctA	p.L329L	HNF1B_ENST00000427275.2_Silent_p.L303L|HNF1B_ENST00000561193.1_Silent_p.L303L|HNF1B_ENST00000560016.1_Silent_p.L329L	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	329					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CGTGGGAGAGCAGAGGGTTCA	0.587													5	25					0	0	0	0	T	36091644	C	T	36091644	2	4	97	1	0	0	0	0	0	0	0	1	7302	697	25	4		4	HNF1B	17	36091644	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08	6236093	36091644	45103566	100	18749											
SLC38A10	124565	broad.mit.edu	37	chr17	79226463	79226463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctcgtggcggtgggcctCgcccacaggcacagcaatcc	7	5	14	15	3	0	0	0	0	0	0	3	0	1	0	3	5	1	3	3	5	1	0			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:79226463C>T	ENST00000374759.3	-	13	1860	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	SLC38A10_ENST00000288439.5_Missense_Mutation_p.E493K	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	493					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGTGGGCCTCGCCCACAGGC	0.607													15	41					0	0	0	0	T	79226463	C	T	79226463	3	4	97	1	0	0	0	0	1	0	0	0	14690	893	31	1	2176	1	SLC38A10	17	79226463	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	43134819	79226463	1968747	101	18750											
PDE4A	5141	broad.mit.edu	37	chr19	10571734	10571734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcgcggctgccatccacGatgtggatcaccctggggtc	5	10	12	14	3	2	0	1	0	1	0	5	2	3	1	3	4	1	1	3	4	0	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:10571734G>A	ENST00000380702.2	+	12	1354	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	PDE4A_ENST00000440014.2_Missense_Mutation_p.D413N|PDE4A_ENST00000293683.5_Missense_Mutation_p.D448N|PDE4A_ENST00000352831.6_Missense_Mutation_p.D474N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D452N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D235N			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	474	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	TGCCATCCACGATGTGGATCA	0.597													6	20					0	0	0	0	A	10571734	G	A	10571734	3	1	97	1	0	0	0	0	1	0	0	0	11710	1058	37	1	1919	1	PDE4A	19	10571734	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08		10571734	48557249	102	18751											
ZNF99	7652	broad.mit.edu	37	chr19	22939423	22939423	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccacattcttcacatttGtacggtttctccccagtatg	7	16	6	12	1	3	0	1	0	2	0	4	0	3	0	3	1	2	3	3	1	2	7			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:22939423G>T	ENST00000397104.3	-	7	2747	c.2748C>A	c.(2746-2748)taC>taA	p.Y916*						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTCACATTTGTACGGTTTCT	0.378													6	26					8.12818e-05	8.8299e-05	1	0	T	22939423	G	T	22939423	4	4	97	1	0	0	0	0	0	1	0	0	18297	1372	48	4	368	4	ZNF99	19	22939423	Nonsense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	12367689	22939423	36189560	103	18752											
HNRNPL	3191	broad.mit.edu	37	chr19	39329085	39329086	+	Frame_Shift_Ins	INS	-	-	A																															gcggggcgttgaagaagtgcINSagcacgttgctggggtgctg																										TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:39329085_39329086insA	ENST00000221419.5	-	10	1874_1875	c.1508_1509insT	c.(1507-1509)ccafs	p.P503fs	AC104534.3_ENST00000594769.1_Frame_Shift_Ins_p.H120fs|HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P370fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	503					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGAAGAAGTGCAGCACGTTGCT	0.599													8	27	---	---	---	---					A	39329086	-	A	39329085	7	5	97	1	0	1	1	0	0	0	0	0	7320	697	25	0	276	0	HNRNPL	19	39329085	Frame_Shift_Ins	INS	-	TCGA-CN-6018-01A-11D-1683-08	16389662	39329085	19799898	104	18753											
IRGC	56269	broad.mit.edu	37	chr19	44223209	44223209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaagttctactttgtgCgcaccaaggtggacgaggac	11	8	13	9	2	1	1	0	0	1	1	1	4	1	3	1	3	2	3	1	3	4	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:44223209C>T	ENST00000244314.5	+	2	698	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	167						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTACTTTGTGCGCACCAAGGT	0.672													3	32					0	0	0	0	T	44223209	C	T	44223209	3	4	97	1	0	0	0	0	1	0	0	0	7891	768	27	1	501	1	IRGC	19	44223209	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	4894124	44223209	14905774	105	18754											
EXOC3L2	90332	broad.mit.edu	37	chr19	45719439	45719439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccacggcatccagccacGaggcctgggactcctgcagg	8	4	13	16	2	0	0	0	0	0	0	2	2	2	1	5	4	2	3	5	4	0	0			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:45719439G>A	ENST00000413988.1	-	9	873	c.833C>T	c.(832-834)tCg>tTg	p.S278L	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000252482.3_Missense_Mutation_p.S278L	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	278										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		ATCCAGCCACGAGGCCTGGGA	0.617													5	33					0	0	0	0	A	45719439	G	A	45719439	3	1	97	1	0	0	0	0	1	0	0	0	5342	1059	37	1	404	1	EXOC3L2	19	45719439	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	1496230	45719439	13409544	106	18755											
CA11	770	broad.mit.edu	37	chr19	49143424	49143424	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctccaaacagcagccgCagttcactgagtcggtggct	9	7	12	13	3	1	1	1	1	0	0	3	2	2	1	2	2	4	5	2	2	1	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:49143424C>G	ENST00000084798.4	-	4	1078	c.399G>C	c.(397-399)ctG>ctC	p.L133L	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	133						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		ACAGCAGCCGCAGTTCACTGA	0.592													20	53					0	0	0	0	G	49143424	C	G	49143424	2	3	97	1	0	0	0	0	0	0	0	1	2537	697	25	4		4	CA11	19	49143424	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08	3423985	49143424	9985559	107	18756											
ZNF649	65251	broad.mit.edu	37	chr19	52394690	52394690	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacacaagctacacccgtgGggtttctctcctctgtgagc	7	10	9	15	1	2	1	0	1	2	0	4	1	3	1	3	2	3	2	3	2	2	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:52394690G>T	ENST00000354957.3	-	5	983	c.699C>A	c.(697-699)ccC>ccA	p.P233P	ZNF649_ENST00000600738.1_Intron|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TACACCCGTGGGGTTTCTCTC	0.502													13	61					0.000151284	0.000163171	1	0	T	52394690	G	T	52394690	2	4	97	1	0	0	0	0	0	0	0	1	18159	1219	43	4		4	ZNF649	19	52394690	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08	3251266	52394690	6734293	108	18757											
ZNF665	79788	broad.mit.edu	37	chr19	53669070	53669070	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctccagtatggatgacctGatggattgttaggtttgaac	9	15	11	6	0	1	3	0	3	1	0	2	5	1	5	2	3	1	3	2	3	3	5			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:53669070G>A	ENST00000600412.1	-	2	593	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	ZNF665_ENST00000396424.3_Nonsense_Mutation_p.Q225*			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGGATGACCTGATGGATTGTT	0.403													7	69					0	0	0	0	A	53669070	G	A	53669070	4	1	97	1	0	0	0	0	0	1	0	0	18168	1299	45	2	1367	2	ZNF665	19	53669070	Nonsense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	1274380	53669070	5459913	109	18758											
ZIM2	23619	broad.mit.edu	37	chr19	57286846	57286846	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcattgttataggagtcaaaAgtttctcttggttgccctgg	8	16	10	7	0	3	0	2	0	1	0	4	1	3	1	1	3	1	3	1	3	4	6			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:57286846A>C	ENST00000391708.3	-	12	1336	c.794T>G	c.(793-795)cTt>cGt	p.L265R	AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.L265R|ZIM2_ENST00000601070.1_Missense_Mutation_p.L265R|ZIM2_ENST00000599935.1_Missense_Mutation_p.L265R|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.L265R	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AGGAGTCAAAAGTTTCTCTTG	0.443													12	45					0	0	0	0	C	57286846	A	C	57286846	3	2	97	1	0	0	0	0	1	0	0	0	17779	72	3	5	793	5	ZIM2	19	57286846	Missense_Mutation	SNP	A	TCGA-CN-6018-01A-11D-1683-08	3617776	57286846	1842137	110	18759											
ZNF154	7710	broad.mit.edu	37	chr19	58213789	58213789	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagtctccaatggtcattGagactgtagcttttgctaaa	11	14	9	7	0	2	2	1	2	1	1	3	3	2	2	1	1	2	3	1	1	5	5			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:58213789G>C	ENST00000512439.2	-	3	724	c.528C>G	c.(526-528)ctC>ctG	p.L176L	ZNF154_ENST00000426889.1_Silent_p.L176L|AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	176						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AATGGTCATTGAGACTGTAGC	0.453													19	111					0	0	0	0	C	58213789	G	C	58213789	2	2	97	1	0	0	0	0	0	0	0	1	17830	1277	45	2		2	ZNF154	19	58213789	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08	926943	58213789	915194	111	18760											
ZSCAN22	342945	broad.mit.edu	37	chr19	58850557	58850557	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtccgaaggcctttgcacaGagctcctccctcattgagca	8	10	9	14	1	1	2	1	1	0	1	4	3	4	2	4	1	3	3	4	1	1	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:58850557G>C	ENST00000329665.4	+	3	1488	c.1341G>C	c.(1339-1341)caG>caC	p.Q447H		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	447					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|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;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CCTTTGCACAGAGCTCCTCCC	0.557													7	58					0	0	0	0	C	58850557	G	C	58850557	3	2	97	1	0	0	0	0	1	0	0	0	18326	933	33	2	1347	2	ZSCAN22	19	58850557	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	636768	58850557	278426	112	18761											
PAK7	57144	broad.mit.edu	37	chr20	9561425	9561425	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagccattttcttccgcGtggcctggaccgtggctgga	6	11	13	11	3	1	1	0	1	1	0	2	3	2	3	4	4	1	1	4	4	1	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr20:9561425G>A	ENST00000378429.3	-	5	903	c.357C>T	c.(355-357)caC>caT	p.H119H	PAK7_ENST00000353224.5_Silent_p.H119H|PAK7_ENST00000378423.1_Silent_p.H119H	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	119	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTTCTTCCGCGTGGCCTGGAC	0.527													19	141					0	0	0	0	A	9561425	G	A	9561425	2	1	97	1	0	0	0	0	0	0	0	1	11476	1136	40	1		1	PAK7	20	9561425	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08		9561425	53464095	113	18762											
MATN4	8785	broad.mit.edu	37	chr20	43932984	43932984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcagggagcccacgtccGcgcgctgcacccccaccgcg	5	2	13	21	8	0	0	0	0	0	0	1	1	1	1	5	1	2	3	5	1	0	0			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr20:43932984G>A	ENST00000537548.1	-	4	771	c.527C>T	c.(526-528)gCg>gTg	p.A176V	MATN4_ENST00000353917.5_Missense_Mutation_p.A176V|MATN4_ENST00000372756.1_Missense_Mutation_p.A176V|MATN4_ENST00000360607.5_Missense_Mutation_p.A176V|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.A176V|MATN4_ENST00000372754.1_Missense_Mutation_p.A176V|MATN4_ENST00000372753.1_Intron			O95460	MATN4_HUMAN	matrilin 4	176	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCCCACGTCCGCGCGCTGCAC	0.692													7	36					0	0	0	0	A	43932984	G	A	43932984	3	1	97	1	0	0	0	0	1	0	0	0	9405	1087	38	1	1250	1	MATN4	20	43932984	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	34371559	43932984	19092536	114	18763											
CTCFL	140690	broad.mit.edu	37	chr20	56087700	56087700	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacctcttctcattcttaTgagttttctggtgctgaatg	7	18	8	8	0	4	3	1	3	4	0	5	3	4	3	1	1	2	2	1	1	3	5			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr20:56087700T>C	ENST00000429804.2	-	7	1849	c.1289A>G	c.(1288-1290)cAt>cGt	p.H430R	CTCFL_ENST00000433949.2_Missense_Mutation_p.H480R|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000539382.1_Missense_Mutation_p.H275R|CTCFL_ENST00000243914.3_Missense_Mutation_p.H480R|CTCFL_ENST00000423479.2_Missense_Mutation_p.H480R|CTCFL_ENST00000422109.2_Intron|CTCFL_ENST00000422869.2_Missense_Mutation_p.H480R|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000502686.2_Missense_Mutation_p.H218R|CTCFL_ENST00000371196.2_Missense_Mutation_p.H480R	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	480					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCATTCTTATGAGTTTTCTG	0.458													10	64					0	0	0	0	C	56087700	T	C	56087700	3	2	97	1	0	0	0	0	1	0	0	0	4033	1464	51	5	568	5	CTCFL	20	56087700	Missense_Mutation	SNP	T	TCGA-CN-6018-01A-11D-1683-08	12154716	56087700	6937820	115	18764											
ZNF831	128611	broad.mit.edu	37	chr20	57766526	57766526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtccgcactgtggtcGcgactgcctgaagcccagtg	5	9	13	14	3	0	1	0	1	0	0	2	2	1	1	4	1	2	1	4	1	1	0			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr20:57766526G>A	ENST00000371030.2	+	1	452	c.452G>A	c.(451-453)cGc>cAc	p.R151H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	151						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CACTGTGGTCGCGACTGCCTG	0.662													30	105					0	0	0	0	A	57766526	G	A	57766526	3	1	97	1	0	0	0	0	1	0	0	0	18278	1087	38	1	454	1	ZNF831	20	57766526	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	1678826	57766526	5258994	116	18765											
DOPEY2	9980	broad.mit.edu	37	chr21	37652617	37652617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaccatcttttgactcatGagaaaacaatgtttaaggat	14	14	7	6	0	2	3	1	3	1	1	2	5	2	4	1	1	1	1	1	1	4	5			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr21:37652617G>A	ENST00000399151.3	+	31	6089	c.6004G>A	c.(6004-6006)Gag>Aag	p.E2002K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2002					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTGACTCATGAGAAAACAAT	0.308													9	30					0	0	0	0	A	37652617	G	A	37652617	3	1	97	1	0	0	0	0	1	0	0	0	4744	1291	45	2	6122	2	DOPEY2	21	37652617	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08		37652617	10477278	117	18766											
CBS	875	broad.mit.edu	37	chr21	44474014	44474014	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtcccgctcctgggcGgccacgaagttcagcaagtc	6	9	12	14	3	2	0	1	0	1	0	5	1	4	0	3	3	1	3	3	3	2	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr21:44474014G>A	ENST00000398165.3	-	17	1891	c.1632C>T	c.(1630-1632)gcC>gcT	p.A544A	CBS_ENST00000398168.1_Silent_p.A558A|CBS_ENST00000544202.1_Silent_p.A456A|CBS_ENST00000352178.5_Silent_p.A544A|CBS_ENST00000398158.1_Silent_p.A544A|CBS_ENST00000359624.3_Silent_p.A544A	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	544					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GCTCCTGGGCGGCCACGAAGT	0.647													6	36					0	0	0	0	A	44474014	G	A	44474014	2	1	97	1	0	0	0	0	0	0	0	1	2736	1103	39	1		1	CBS	21	44474014	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08	6821397	44474014	3655881	118	18767											
GNAZ	2781	broad.mit.edu	37	chr22	23465286	23465286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccccagagtcggatggcaGagagcttgcgcctctttgac	7	10	12	12	2	1	3	0	1	1	2	3	5	2	4	3	2	2	2	3	2	0	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr22:23465286G>A	ENST00000248996.4	+	3	1402	c.736G>A	c.(736-738)Gag>Aag	p.E246K	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	246						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TCGGATGGCAGAGAGCTTGCG	0.542													12	41					0	0	0	0	A	23465286	G	A	23465286	3	1	97	1	0	0	0	0	1	0	0	0	6565	943	33	2	742	2	GNAZ	22	23465286	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08		23465286	27839280	119	18768											
ELFN2	114794	broad.mit.edu	37	chr22	37770765	37770765	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttgaagcccgagttctcGtctggctccctctgggcgtc	3	11	14	13	3	3	1	0	1	3	0	6	2	4	1	2	3	1	3	2	3	1	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr22:37770765G>A	ENST00000402918.1	-	3	1595	c.810C>T	c.(808-810)gaC>gaT	p.D270D	ELFN2_ENST00000349653.3_Silent_p.D270D|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	270						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCGAGTTCTCGTCTGGCTCCC	0.687													9	40					0	0	0	0	A	37770765	G	A	37770765	2	1	97	1	0	0	0	0	0	0	0	1	5096	1136	40	1		1	ELFN2	22	37770765	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08	14305479	37770765	13533801	120	18769											
POLDIP3	84271	broad.mit.edu	37	chr22	42999092	42999092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggaaggtggctgtgcgtGttgactggctgagaaggcct	6	10	18	7	1	0	2	0	2	0	1	0	4	0	3	1	5	1	4	1	5	2	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr22:42999092G>A	ENST00000252115.5	-	2	238	c.134C>T	c.(133-135)aCa>aTa	p.T45I	POLDIP3_ENST00000348657.2_Missense_Mutation_p.T45I|POLDIP3_ENST00000339677.6_Missense_Mutation_p.T45I	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	45					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGCTGTGCGTGTTGACTGGCT	0.527													5	69					0	0	0	0	A	42999092	G	A	42999092	3	1	97	1	0	0	0	0	1	0	0	0	12267	1377	48	4	1163	4	POLDIP3	22	42999092	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	5228327	42999092	8305474	121	18770											
BRD1	23774	broad.mit.edu	37	chr22	50181097	50181097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagtctccgcatgtgctcCgcgaccttttccttggctgc	3	12	11	15	4	1	0	0	0	1	0	4	2	3	1	4	2	2	3	4	2	0	3	rs140147452		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr22:50181097C>T	ENST00000216267.8	-	7	2891	c.2405G>A	c.(2404-2406)cGg>cAg	p.R802Q	BRD1_ENST00000342989.5_Missense_Mutation_p.R528Q|BRD1_ENST00000542442.1_Missense_Mutation_p.R490Q|BRD1_ENST00000404760.1_Missense_Mutation_p.R933Q|BRD1_ENST00000457780.2_Missense_Mutation_p.G906R|BRD1_ENST00000404034.1_Missense_Mutation_p.R802Q	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	802					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCATGTGCTCCGCGACCTTTT	0.602													9	39					0	0	0	0	T	50181097	C	T	50181097	3	4	97	1	0	0	0	0	1	0	0	0	1509	652	23	1	795	1	BRD1	22	50181097	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	7182005	50181097	1123469	122	18771											
TYMP	1890	broad.mit.edu	37	chr22	50967607	50967607	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggtgcgaggaccaggctGaccttgtcacccacaccccc	8	5	11	17	1	1	1	1	1	0	0	1	3	1	2	5	3	1	2	5	3	0	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr22:50967607G>A	ENST00000252029.3	-	3	537	c.375C>T	c.(373-375)gtC>gtT	p.V125V	TYMP_ENST00000395680.1_Silent_p.V125V|TYMP_ENST00000395681.1_Silent_p.V125V|TYMP_ENST00000395678.3_Silent_p.V125V	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	125					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GGACCAGGCTGACCTTGTCAC	0.637													5	52					0	0	0	0	A	50967607	G	A	50967607	2	1	97	1	0	0	0	0	0	0	0	1	16907	1277	45	2		2	TYMP	22	50967607	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08	786510	50967607	336959	123	18772											
TIMP1	7076	broad.mit.edu	37	chrX	47442865	47442865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctgttgttgctgtggctGatagcccccagcagggcctg	5	11	13	12	0	0	1	0	1	0	0	1	1	1	1	4	2	3	5	4	2	1	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:47442865G>A	ENST00000456754.2	+	2	126	c.51G>A	c.(49-51)ctG>ctA	p.L17L	SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377017.1_Intron|SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000218388.4_Silent_p.L17L|TIMP1_ENST00000377018.2_5'UTR			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	17					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						TGCTGTGGCTGATAGCCCCCA	0.652													6	64					0	0	0	0	A	47442865	G	A	47442865	2	1	97	1	0	0	0	0	0	0	0	1	16011	1277	45	2		2	TIMP1	23	47442865	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08		47442865	107827695	124	18773											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722774	64722774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatgccagctgggacccGctgccctgtacaactgactc	8	7	10	16	1	0	1	0	1	0	0	1	2	0	2	3	1	6	4	3	1	2	1			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:64722774G>A	ENST00000338957.4	+	5	2263	c.2196G>A	c.(2194-2196)ccG>ccA	p.P732P	ZC3H12B_ENST00000423889.3_Silent_p.P721P	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	721							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGGGACCCGCTGCCCTGTA	0.577													14	27					0	0	0	0	A	64722774	G	A	64722774	2	1	97	1	0	0	0	0	0	0	0	1	17657	1074	38	1		1	ZC3H12B	23	64722774	Silent	SNP	G	TCGA-CN-6018-01A-11D-1683-08	17279909	64722774	90547786	125	18774											
KIF4A	24137	broad.mit.edu	37	chrX	69510292	69510292	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttccccctcgcagagacGgtgctgagataggatcatga	9	11	11	10	2	1	3	1	2	0	2	3	6	2	4	2	2	1	2	2	2	1	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:69510292G>A	ENST00000374403.3	+	0	66				KIF4A_ENST00000485406.1_3'UTR|KIF4A_ENST00000374388.3_De_novo_Start_OutOfFrame	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A						anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCGCAGAGACGGTGCTGAGAT	0.592													8	53					0	0	0	0	A	69510292	G	A	69510292	1	1	97	1	0	0	0	0	0	0	0	0	8354	1131	39	1		1	KIF4A	23	69510292	Translation_Start_Site	SNP	G	TCGA-CN-6018-01A-11D-1683-08	4787518	69510292	85760268	126	18775											
CYSLTR1	10800	broad.mit.edu	37	chrX	77529009	77529009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacataatagaccacacGgagaggcagtgtgcacacac	15	5	11	10	1	0	3	0	1	0	2	0	4	0	3	1	2	2	2	1	2	3	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:77529009G>A	ENST00000373304.3	-	3	527	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	79					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TAGACCACACGGAGAGGCAGT	0.423													7	54					0	0	0	0	A	77529009	G	A	77529009	3	1	97	1	0	0	0	0	1	0	0	0	4233	1116	39	1	782	1	CYSLTR1	23	77529009	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	8018717	77529009	77741551	127	18776											
FAM46D	169966	broad.mit.edu	37	chrX	79698631	79698631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccaagctaaccaaagaatCctatcctgttgtggtagctg	11	11	9	10	0	0	1	0	0	0	1	2	1	2	1	4	1	4	4	4	1	6	4			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:79698631C>A	ENST00000538312.1	+	5	927	c.593C>A	c.(592-594)tCc>tAc	p.S198Y	FAM46D_ENST00000308293.5_Missense_Mutation_p.S198Y	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	198										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ACCAAAGAATCCTATCCTGTT	0.403													4	66					0.150653	0.152676	1	0	A	79698631	C	A	79698631	3	1	97	1	0	0	0	0	1	0	0	0	5615	855	30	2	595	2	FAM46D	23	79698631	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	2169622	79698631	75571929	128	18777											
TAF7L	54457	broad.mit.edu	37	chrX	100538563	100538563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcaacaactgcatggcGcccatcagctgaagagaagt	13	8	9	11	1	2	2	2	1	0	1	2	3	2	2	1	1	5	2	1	1	5	2	rs145455495		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:100538563G>A	ENST00000372907.3	-	4	423	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	TAF7L_ENST00000356784.1_Missense_Mutation_p.R52C|TAF7L_ENST00000324762.6_Missense_Mutation_p.R52C|TAF7L_ENST00000372905.2_Missense_Mutation_p.R52C	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	138					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACTGCATGGCGCCCATCAGCT	0.398													95	165					0	0	0	0	A	100538563	G	A	100538563	3	1	97	1	0	0	0	0	1	0	0	0	15624	1087	38	1	1016	1	TAF7L	23	100538563	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	20839932	100538563	54731997	129	18778											
DOCK11	139818	broad.mit.edu	37	chrX	117699986	117699986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgccccaaaatgcgccgtCatgcttttgaactcaagatg	11	10	9	11	2	2	2	2	1	0	1	2	2	2	2	3	0	4	1	3	0	4	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:117699986C>T	ENST00000276204.6	+	8	786	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	DOCK11_ENST00000276202.7_Missense_Mutation_p.H238Y			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	238	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AATGCGCCGTCATGCTTTTGA	0.333													20	185					0	0	0	0	T	117699986	C	T	117699986	3	4	97	1	0	0	0	0	1	0	0	0	4722	826	29	2	742	2	DOCK11	23	117699986	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	17161423	117699986	37570574	130	18779											
GRIA3	2892	broad.mit.edu	37	chrX	122561966	122561966	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatatgggaccctggactcCggttcaacaaaagaattttt	12	11	9	9	1	1	1	1	0	0	1	2	3	2	3	2	3	1	2	2	3	5	4			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:122561966C>T	ENST00000264357.5	+	12	2344	c.2052C>T	c.(2050-2052)tcC>tcT	p.S684S	GRIA3_ENST00000371251.1_Silent_p.S684S|GRIA3_ENST00000542149.1_Silent_p.S684S|GRIA3_ENST00000371256.5_Silent_p.S684S	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	684					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CCCTGGACTCCGGTTCAACAA	0.423													6	82					0	0	0	0	T	122561966	C	T	122561966	2	4	97	1	0	0	0	0	0	0	0	1	6819	639	23	1		1	GRIA3	23	122561966	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08	4861980	122561966	32708594	131	18780											
HS6ST2	90161	broad.mit.edu	37	chrX	132091167	132091167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgggtgaaattgtagcgggGcacgaacctggcggagctct	8	7	17	9	4	1	1	0	1	1	0	1	3	1	2	1	5	3	3	1	5	3	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:132091167G>A	ENST00000370836.2	-	3	1031	c.616C>T	c.(616-618)Ccc>Tcc	p.P206S	HS6ST2_ENST00000370833.2_Missense_Mutation_p.P60S|HS6ST2_ENST00000521489.1_Missense_Mutation_p.P206S|HS6ST2_ENST00000370837.1_Missense_Mutation_p.P60S	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	206						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TTGTAGCGGGGCACGAACCTG	0.652													15	43					0	0	0	0	A	132091167	G	A	132091167	3	1	97	1	0	0	0	0	1	0	0	0	7421	1203	42	4	1337	4	HS6ST2	23	132091167	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	9529201	132091167	23179393	132	18781											
MAGEA10	4109	broad.mit.edu	37	chrX	151303808	151303808	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggaagggaagcaacgacCgagggggaggagcaggctat	14	3	18	6	2	0	0	0	0	0	0	0	6	0	4	1	6	3	3	1	6	5	1	rs139926957	byFrequency	TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:151303808C>T	ENST00000370323.4	-	4	601	c.285G>A	c.(283-285)tcG>tcA	p.S95S	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.S95S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	95										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCAACGACCGAGGGGGAGG	0.542													15	264					0	0	0	0	T	151303808	C	T	151303808	2	4	97	1	0	0	0	0	0	0	0	1	9229	639	23	1		1	MAGEA10	23	151303808	Silent	SNP	C	TCGA-CN-6018-01A-11D-1683-08	19212641	151303808	3966752	133	18782											
RENBP	5973	broad.mit.edu	37	chrX	153207481	153207481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccagcacagcttgtccatCcctctaccgggaaggagcag	9	7	10	15	1	1	0	0	0	1	0	4	2	4	2	4	2	4	3	4	2	2	2			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:153207481C>T	ENST00000393700.3	-	7	771	c.691G>A	c.(691-693)Gat>Aat	p.D231N	RENBP_ENST00000369997.3_Missense_Mutation_p.D217N|RENBP_ENST00000412763.1_Intron	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	231					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GCTTGTCCATCCCTCTACCGG	0.617													7	107					0	0	0	0	T	153207481	C	T	153207481	3	4	97	1	0	0	0	0	1	0	0	0	13307	855	30	2	612	2	RENBP	23	153207481	Missense_Mutation	SNP	C	TCGA-CN-6018-01A-11D-1683-08	1903673	153207481	2063079	134	18783											
GDI1	2664	broad.mit.edu	37	chrX	153670046	153670046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggctggccaggttatccGcatcatctgtatccttagcc	8	11	10	12	1	2	0	1	0	1	0	4	1	4	0	4	3	1	4	4	3	4	3			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:153670046G>A	ENST00000447750.2	+	8	1231	c.896G>A	c.(895-897)cGc>cAc	p.R299H		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	299					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGTTATCCGCATCATCTGT	0.572													7	90					0	0	0	0	A	153670046	G	A	153670046	3	1	97	1	0	0	0	0	1	0	0	0	6371	1087	38	1	926	1	GDI1	23	153670046	Missense_Mutation	SNP	G	TCGA-CN-6018-01A-11D-1683-08	462565	153670046	1600514	135	18784											
ZZZ3	26009	broad.mit.edu	37	chr1	78099026	78099026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcttgtaacacgagtagatCgggaagcagccatactatgg	13	9	11	8	2	1	1	0	0	1	1	2	3	1	2	1	2	4	3	1	2	5	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:78099026C>T	ENST00000370801.3	-	5	489	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ACGAGTAGATCGGGAAGCAGC	0.403													4	28					0	0	0	0	T	78099026	C	T	78099026	3	4	98	1	0	0	0	0	1	0	0	0	18347	884	31	1	2741	1	ZZZ3	1	78099026	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08		78099026	171151595	1	18785											
PTBP2	58155	broad.mit.edu	37	chr1	97272478	97272478	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaataagaaagacagcgctCtaatacagatggctgatgga	17	7	10	7	1	1	4	0	1	1	3	1	5	1	5	0	2	2	2	0	2	5	3			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:97272478C>T	ENST00000236228.6	+	11	1217	c.1135C>T	c.(1135-1137)Cta>Tta	p.L379L	PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Silent_p.L384L|PTBP2_ENST00000426398.2_Silent_p.L379L|PTBP2_ENST00000394184.3_Silent_p.L395L|PTBP2_ENST00000370197.1_Silent_p.L384L	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	379	RRM 3.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AGACAGCGCTCTAATACAGAT	0.348													4	52					0	0	0	0	T	97272478	C	T	97272478	2	4	98	1	0	0	0	0	0	0	0	1	12805	912	32	2		2	PTBP2	1	97272478	Silent	SNP	C	TCGA-CN-6019-01A-11D-1683-08	19173452	97272478	151978143	2	18786											
OLFM3	118427	broad.mit.edu	37	chr1	102270200	102270200	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattaggtcgatgtcagagAatccaccccatgtgtagggg	10	9	12	10	1	1	1	1	0	0	1	3	3	2	1	4	3	0	1	4	3	3	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:102270200A>G	ENST00000370103.4	-	6	1184	c.971T>C	c.(970-972)tTc>tCc	p.F324S	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.F344S|OLFM3_ENST00000536598.1_3'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	344	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GATGTCAGAGAATCCACCCCA	0.453													13	37					0	0	0	0	G	102270200	A	G	102270200	3	3	98	1	0	0	0	0	1	0	0	0	10925	246	9	5	409	5	OLFM3	1	102270200	Missense_Mutation	SNP	A	TCGA-CN-6019-01A-11D-1683-08	4997722	102270200	146980421	3	18787											
CELSR2	1952	broad.mit.edu	37	chr1	109812137	109812137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggccctggacaaacccGtcacggtgcagttccgcctg	6	6	12	17	4	1	0	1	0	0	0	2	1	2	1	5	3	2	2	5	3	1	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:109812137G>T	ENST00000271332.3	+	21	6965	c.6904G>T	c.(6904-6906)Gtc>Ttc	p.V2302F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2302					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGACAAACCCGTCACGGTGCA	0.607													8	32					0.000157383	0.00017893	1	0	T	109812137	G	T	109812137	3	4	98	1	0	0	0	0	1	0	0	0	3251	1145	40	3	6986	3	CELSR2	1	109812137	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	7541937	109812137	139438484	4	18788											
LY9	4063	broad.mit.edu	37	chr1	160769743	160769743	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacctgggccgactagacAtcaccaagtggagttactcc	10	8	10	13	1	1	1	1	0	0	1	2	3	2	2	4	2	2	2	4	2	4	3			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:160769743A>T	ENST00000263285.5	+	2	355	c.325A>T	c.(325-327)Atc>Ttc	p.I109F	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.I69F|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368039.2_Missense_Mutation_p.I109F|LY9_ENST00000341032.4_Missense_Mutation_p.I109F	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	109	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCGACTAGACATCACCAAGTG	0.453													21	74					0	0	0	0	T	160769743	A	T	160769743	3	4	98	1	0	0	0	0	1	0	0	0	9166	217	8	5	331	5	LY9	1	160769743	Missense_Mutation	SNP	A	TCGA-CN-6019-01A-11D-1683-08	50957606	160769743	88480878	5	18789											
TNN	63923	broad.mit.edu	37	chr1	175046803	175046803	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggccagggaggaacagaaCatcatcttcaggcacaacat	15	5	11	10	0	3	1	2	0	1	1	3	4	3	3	1	4	3	1	1	4	3	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:175046803C>T	ENST00000239462.4	+	2	362	c.249C>T	c.(247-249)aaC>aaT	p.N83N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	83					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGAACAGAACATCATCTTCA	0.617													17	50					0	0	0	0	T	175046803	C	T	175046803	2	4	98	1	0	0	0	0	0	0	0	1	16417	477	17	4		4	TNN	1	175046803	Silent	SNP	C	TCGA-CN-6019-01A-11D-1683-08	14277060	175046803	74203818	6	18790											
USH2A	7399	broad.mit.edu	37	chr1	215940123	215940123	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgtagttggtgtatggCtggagacctagaaaaagcaa	14	9	13	5	0	0	2	0	0	0	2	0	3	0	2	1	3	2	6	1	3	7	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:215940123C>G	ENST00000366943.2	-	56	11333	c.10947G>C	c.(10945-10947)caG>caC	p.Q3649H	USH2A_ENST00000307340.3_Missense_Mutation_p.Q3649H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3649	Fibronectin type-III 21.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTGTATGGCTGGAGACCTA	0.423										HNSCC(13;0.011)			11	50					0	0	0	0	G	215940123	C	G	215940123	3	3	98	1	0	0	0	0	1	0	0	0	17132	796	28	4	4729	4	USH2A	1	215940123	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	40893320	215940123	33310498	7	18791											
USH2A	7399	broad.mit.edu	37	chr1	216373318	216373318	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaataggaatgatataactTaaagtcaagtttccctctgg	14	12	7	8	0	2	1	1	1	1	0	3	2	3	2	2	2	1	1	2	2	8	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:216373318T>A	ENST00000366943.2	-	17	3848	c.3462A>T	c.(3460-3462)ttA>ttT	p.L1154F	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.L1154F|USH2A_ENST00000366942.3_Missense_Mutation_p.L1154F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1154	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGATATAACTTAAAGTCAAGT	0.423										HNSCC(13;0.011)			16	95					0	0	0	0	A	216373318	T	A	216373318	3	1	98	1	0	0	0	0	1	0	0	0	17132	1751	61	5	12384	5	USH2A	1	216373318	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	433195	216373318	32877303	8	18792											
APOB	338	broad.mit.edu	37	chr2	21255246	21255246	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgaccgcgtggctcagCgcatacaaggtggctcggct	6	10	14	11	4	1	1	1	1	0	0	2	1	1	1	1	4	2	5	1	4	2	3			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:21255246C>T	ENST00000233242.1	-	10	1459	c.1332G>A	c.(1330-1332)gcG>gcA	p.A444A	APOB_ENST00000399256.4_Silent_p.A444A	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	444	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A444A(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGTGGCTCAGCGCATACAAGG	0.547													4	75					0	0	0	0	T	21255246	C	T	21255246	2	4	98	1	0	0	0	0	0	0	0	1	787	755	27	1		1	APOB	2	21255246	Silent	SNP	C	TCGA-CN-6019-01A-11D-1683-08		21255246	221944127	9	18793											
DNMT3A	1788	broad.mit.edu	37	chr2	25463264	25463264	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgatcatctccctccttGggccgcgcatcatgcaggag	6	8	13	14	3	3	0	2	0	1	0	5	2	4	1	3	3	1	2	3	3	0	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:25463264G>A	ENST00000264709.3	-	19	2566	c.2229C>T	c.(2227-2229)ccC>ccT	p.P743P	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Silent_p.P520P|DNMT3A_ENST00000380746.4_Silent_p.P554P|DNMT3A_ENST00000321117.5_Silent_p.P743P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	743					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCCTCCTTGGGCCGCGCAT	0.567			"Mis, F, N, S"		AML								22	85					0	0	0	0	A	25463264	G	A	25463264	2	1	98	1	0	0	0	0	0	0	0	1	4712	1335	47	4		4	DNMT3A	2	25463264	Silent	SNP	G	TCGA-CN-6019-01A-11D-1683-08	4208018	25463264	217736109	10	18794											
SMEK2	57223	broad.mit.edu	37	chr2	55808822	55808822	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttcaattaccacattaaTaagaagaatatcctggtggc	14	13	7	7	0	1	2	1	0	0	2	2	2	2	2	2	2	1	1	2	2	7	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:55808822T>A	ENST00000272313.5	-	8	1573	c.1246A>T	c.(1246-1248)Att>Ttt	p.I416F	SMEK2_ENST00000345102.5_Missense_Mutation_p.I416F|SMEK2_ENST00000407823.3_Missense_Mutation_p.I416F	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	416						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCACATTAATAAGAAGAATA	0.373													12	48					0	0	0	0	A	55808822	T	A	55808822	3	1	98	1	0	0	0	0	1	0	0	0	14882	1406	49	5	1343	5	SMEK2	2	55808822	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	30345558	55808822	187390551	11	18795											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459975	107459975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtgggcctggctccccGggggaagggaatcccaatgt	6	7	15	13	2	0	0	0	0	0	0	3	2	3	2	5	5	0	1	5	5	3	0	rs142520495		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:107459975G>A	ENST00000409382.3	-	2	1069	c.459C>T	c.(457-459)ccC>ccT	p.P153P	ST6GAL2_ENST00000361686.4_Silent_p.P153P|ST6GAL2_ENST00000409087.3_Silent_p.P153P	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	153					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.P153P(1)		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						CTGGCTCCCCGGGGGAAGGGA	0.622													16	252					0	0	0	0	A	107459975	G	A	107459975	2	1	98	1	0	0	0	0	0	0	0	1	15312	1103	39	1		1	ST6GAL2	2	107459975	Silent	SNP	G	TCGA-CN-6019-01A-11D-1683-08	51651153	107459975	135739398	12	18796											
SPOPL	339745	broad.mit.edu	37	chr2	139316621	139316621	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccaagattcagtaaacatAtcaggacatactaatacaaa	19	9	5	8	0	2	1	2	0	0	1	3	2	3	2	1	1	3	1	1	1	8	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:139316621A>C	ENST00000280098.4	+	6	889	c.510A>C	c.(508-510)atA>atC	p.I170I		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	170						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CAGTAAACATATCAGGACATA	0.353													14	77					0	0	0	0	C	139316621	A	C	139316621	2	2	98	1	0	0	0	0	0	0	0	1	15175	439	16	5		5	SPOPL	2	139316621	Silent	SNP	A	TCGA-CN-6019-01A-11D-1683-08	31856646	139316621	103882752	13	18797											
SPOPL	339745	broad.mit.edu	37	chr2	139316682	139316682	+	Missense_Mutation	SNP	G	G	T																															gtcgtctagcagaagatttaGgtaatctctgggaaaacaca																										TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:139316682G>T	ENST00000280098.4	+	6	950	c.571G>T	c.(571-573)Ggt>Tgt	p.G191C		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	191						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AGAAGATTTAGGTAATCTCTG	0.368													27	100					2.48779e-11	3.18905e-11	1	0	T	139316682	G	T	139316682	3	4	98	1	0	0	0	0	1	0	0	0	15175	1000	35	4	589	4	SPOPL	2	139316682	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	61	139316682	103882691	14	18798	154	2									
SPOPL	339745	broad.mit.edu	37	chr2	139316683	139316683	+	Missense_Mutation	SNP	G	G	T																															tcgtctagcagaagatttagGtaatctctgggaaaacacaa																										TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:139316683G>T	ENST00000280098.4	+	6	951	c.572G>T	c.(571-573)gGt>gTt	p.G191V		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	191						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GAAGATTTAGGTAATCTCTGG	0.368													27	104					2.79863e-10	3.53999e-10	1	0	T	139316683	G	T	139316683	3	4	98	1	0	0	0	0	1	0	0	0	15175	1261	44	4	590	4	SPOPL	2	139316683	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	1	139316683	103882690	15	18799	154	2									
TANC1	85461	broad.mit.edu	37	chr2	160031502	160031502	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggctgacaacacgtaCacttgcctggtgcccgagtt	8	9	11	13	2	0	1	0	1	0	0	0	2	0	1	3	2	5	3	3	2	2	3			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:160031502C>G	ENST00000263635.6	+	12	1779	c.1542C>G	c.(1540-1542)taC>taG	p.Y514*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.Y408*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	514						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ACAACACGTACACTTGCCTGG	0.577													46	308					0	0	0	0	G	160031502	C	G	160031502	4	3	98	1	0	0	0	0	0	1	0	0	15635	489	17	4	1580	4	TANC1	2	160031502	Nonsense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	20714819	160031502	83167871	16	18800											
GAD1	2571	broad.mit.edu	37	chr2	171686090	171686090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgaaaacagcgaccGggatgcccgcttccggcgca	8	7	12	14	5	0	1	0	1	0	0	2	3	2	2	4	2	3	2	4	2	2	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:171686090G>T	ENST00000358196.3	+	4	801	c.251G>T	c.(250-252)cGg>cTg	p.R84L	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.R84L|GAD1_ENST00000344257.5_Missense_Mutation_p.R84L	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	84					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AACAGCGACCGGGATGCCCGC	0.547													4	89					0.000602214	0.000668738	1	0	T	171686090	G	T	171686090	3	4	98	1	0	0	0	0	1	0	0	0	6227	1116	39	3	261	3	GAD1	2	171686090	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	11654588	171686090	71513283	17	18801											
NFE2L2	4780	broad.mit.edu	37	chr2	178098950	178098950	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcaaatacttctcgacttActccaagatctatatcttgc	12	14	4	11	1	4	1	1	0	3	1	6	2	5	1	1	0	3	0	1	0	6	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:178098950A>C	ENST00000397062.3	-	2	649	c.95T>G	c.(94-96)gTa>gGa	p.V32G	NFE2L2_ENST00000397063.4_Missense_Mutation_p.V16G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.V16G|NFE2L2_ENST00000423513.1_Missense_Mutation_p.V16G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.V16G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	32					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V32G(2)|p.V32del(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTCTCGACTTACTCCAAGATC	0.368			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			6	34					0	0	0	0	C	178098950	A	C	178098950	3	2	98	1	0	0	0	0	1	0	0	0	10438	391	14	5	1738	5	NFE2L2	2	178098950	Missense_Mutation	SNP	A	TCGA-CN-6019-01A-11D-1683-08	6412860	178098950	65100423	18	18802											
PDE11A	50940	broad.mit.edu	37	chr2	178936794	178936794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccttggagcgggcaaaaCtcttccttagctctttctga	7	13	10	11	1	3	1	0	1	3	0	4	2	4	2	2	3	3	2	2	3	3	4	rs149522660	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:178936794C>T	ENST00000286063.5	-	1	688	c.371G>A	c.(370-372)aGt>aAt	p.S124N	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	124					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCGGGCAAAACTCTTCCTTAG	0.612									Primary Pigmented Nodular Adrenocortical Disease, Familial				17	54					0	0	0	0	T	178936794	C	T	178936794	3	4	98	1	0	0	0	0	1	0	0	0	11702	565	20	4	2510	4	PDE11A	2	178936794	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	837844	178936794	64262579	19	18803											
TTN	7273	broad.mit.edu	37	chr2	179598558	179598558	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctctcacagcagcttgcagGgtaacggtttgtcctcctag	7	11	10	13	1	1	0	1	0	1	0	4	0	3	0	3	2	4	5	3	2	2	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:179598558G>T	ENST00000589042.1	-	53	15782	c.15558C>A	c.(15556-15558)acC>acA	p.T5186T	TTN_ENST00000591111.1_Silent_p.T4869T|TTN_ENST00000342992.6_Silent_p.T3942T|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4869	Ig-like 32.						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)			CAGCTTGCAGGGTAACGGTTT	0.413													14	72					1.3612e-06	1.65599e-06	1	0	T	179598558	G	T	179598558	2	4	98	1	0	0	0	0	0	0	0	1	16831	1219	43	4		4	TTN	2	179598558	Silent	SNP	G	TCGA-CN-6019-01A-11D-1683-08	661764	179598558	63600815	20	18804											
TTN	7273	broad.mit.edu	37	chr2	179640610	179640610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttactgcgcagctcttccGactcttcaggcactttttca	7	15	6	13	2	4	0	2	0	2	0	5	1	5	0	1	1	3	3	1	1	1	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:179640610G>A	ENST00000589042.1	-	28	6205	c.5981C>T	c.(5980-5982)tCg>tTg	p.S1994L	TTN_ENST00000591111.1_Missense_Mutation_p.S1994L|TTN_ENST00000342992.6_Missense_Mutation_p.S1994L|TTN_ENST00000359218.5_Missense_Mutation_p.S1948L|TTN_ENST00000360870.5_Missense_Mutation_p.S1994L|TTN_ENST00000460472.2_Missense_Mutation_p.S1948L|TTN_ENST00000342175.6_Missense_Mutation_p.S1948L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1747							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)			CAGCTCTTCCGACTCTTCAGG	0.438													21	126					0	0	0	0	A	179640610	G	A	179640610	3	1	98	1	0	0	0	0	1	0	0	0	16831	1059	37	1	105347	1	TTN	2	179640610	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	42052	179640610	63558763	21	18805											
CPS1	1373	broad.mit.edu	37	chr2	211532931	211532931	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcttgctttggtgaaggtAttcatacagccttcctaaag	9	14	10	8	0	1	1	1	1	0	0	2	1	2	1	2	3	3	3	2	3	5	7			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:211532931A>T	ENST00000233072.5	+	34	4220	c.4024A>T	c.(4024-4026)Att>Ttt	p.I1342F	CPS1_ENST00000430249.2_Missense_Mutation_p.I1348F|CPS1_ENST00000451903.2_Missense_Mutation_p.I891F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1342					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGGTGAAGGTATTCATACAGC	0.378													14	56					0	0	0	0	T	211532931	A	T	211532931	3	4	98	1	0	0	0	0	1	0	0	0	3853	449	16	5	4180	5	CPS1	2	211532931	Missense_Mutation	SNP	A	TCGA-CN-6019-01A-11D-1683-08	31892321	211532931	31666442	22	18806											
TTLL4	9654	broad.mit.edu	37	chr2	219609873	219609873	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacccctttccaatcatgAgaaagttgtccgaccagccc	12	8	6	15	1	1	1	1	1	0	1	3	3	3	1	6	0	2	1	6	0	3	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:219609873A>G	ENST00000392102.1	+	6	2043	c.1703A>G	c.(1702-1704)gAg>gGg	p.E568G	TTLL4_ENST00000457313.1_Missense_Mutation_p.E403G|TTLL4_ENST00000442769.1_Missense_Mutation_p.E568G|TTLL4_ENST00000258398.4_Missense_Mutation_p.E568G	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	568					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TCCAATCATGAGAAAGTTGTC	0.473													30	94					0	0	0	0	G	219609873	A	G	219609873	3	3	98	1	0	0	0	0	1	0	0	0	16825	304	11	5	1717	5	TTLL4	2	219609873	Missense_Mutation	SNP	A	TCGA-CN-6019-01A-11D-1683-08	8076942	219609873	23589500	23	18807											
CUL3	8452	broad.mit.edu	37	chr2	225365129	225365129	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctggtgggatgttgcactTtggtgtggctgactgagtgg	4	14	18	5	0	0	2	0	2	0	0	0	3	0	3	0	5	2	4	0	5	0	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:225365129T>A	ENST00000264414.4	-	11	1899	c.1561A>T	c.(1561-1563)Aag>Tag	p.K521*	CUL3_ENST00000409777.1_Nonsense_Mutation_p.K497*|CUL3_ENST00000344951.4_Nonsense_Mutation_p.K455*|CUL3_ENST00000409096.1_Nonsense_Mutation_p.K497*	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	521					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATGTTGCACTTTGGTGTGGCT	0.413													20	105					0	0	0	0	A	225365129	T	A	225365129	4	1	98	1	0	0	0	0	0	1	0	0	4088	1850	64	5	769	5	CUL3	2	225365129	Nonsense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	5755256	225365129	17834244	24	18808											
CNTN6	27255	broad.mit.edu	37	chr3	1363354	1363355	+	Frame_Shift_Ins	INS	-	-	GA																															ccagtccccgatattagttgINSgagaaggttggacgggagcc																										TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:1363354_1363355insGA	ENST00000446702.2	+	8	1409_1410	c.782_783insGA	c.(781-783)tagfs	p.*261fs	CNTN6_ENST00000539053.1_Frame_Shift_Ins_p.*189fs|CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.*261fs			Q9UQ52	CNTN6_HUMAN	contactin 6	261	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GATATTAGTTGGAGAAGGTTGG	0.416													20	124	---	---	---	---					GA	1363355	-	GA	1363354	7	5	98	1	0	1	1	0	0	0	0	0	3675	1357	47	0	808	0	CNTN6	3	1363354	Frame_Shift_Ins	INS	-	TCGA-CN-6019-01A-11D-1683-08		1363354	196659076	25	18809											
RFTN1	23180	broad.mit.edu	37	chr3	16475413	16475413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgctccaggggcgtcttctCccgctcatgggtgggctgca	3	10	15	13	2	3	0	1	0	2	0	5	0	4	0	2	4	2	4	2	4	0	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:16475413C>T	ENST00000334133.4	-	3	549	c.277G>A	c.(277-279)Gag>Aag	p.E93K	RFTN1_ENST00000432519.1_Missense_Mutation_p.E57K	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	93						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGCGTCTTCTCCCGCTCATGG	0.632													23	86					0	0	0	0	T	16475413	C	T	16475413	3	4	98	1	0	0	0	0	1	0	0	0	13340	864	30	2	1491	2	RFTN1	3	16475413	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	15112059	16475413	181547017	26	18810											
ARPP21	10777	broad.mit.edu	37	chr3	35730853	35730853	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacttacacgagtttctgaTtaacacattaaagaataatt	17	13	5	6	1	1	3	0	1	1	2	1	4	1	3	0	0	2	1	0	0	6	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:35730853T>A	ENST00000187397.4	+	7	917	c.461T>A	c.(460-462)aTt>aAt	p.I154N	ARPP21_ENST00000458225.1_Missense_Mutation_p.I154N|ARPP21_ENST00000337271.5_Missense_Mutation_p.I154N|ARPP21_ENST00000417925.1_Missense_Mutation_p.I154N|ARPP21_ENST00000444190.1_Missense_Mutation_p.I154N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	154						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GAGTTTCTGATTAACACATTA	0.343													13	53					0	0	0	0	A	35730853	T	A	35730853	3	1	98	1	0	0	0	0	1	0	0	0	982	1493	52	5	492	5	ARPP21	3	35730853	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	19255440	35730853	162291577	27	18811											
PRSS45	377047	broad.mit.edu	37	chr3	46786154	46786154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggatgcagtgggccgcaGtcaccacccagctggggtca	7	7	14	13	1	2	0	2	0	0	0	2	1	2	1	3	4	2	3	3	4	0	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:46786154G>T	ENST00000442359.2	-	1	91	c.92C>A	c.(91-93)aCt>aAt	p.T31N	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	31	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GTGGGCCGCAGTCACCACCCA	0.602													3	19					0.115264	0.116484	1	0	T	46786154	G	T	46786154	3	4	98	1	0	0	0	0	1	0	0	0	12708	1029	36	4	610	4	PRSS45	3	46786154	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	11055301	46786154	151236276	28	18812											
KIF9	64147	broad.mit.edu	37	chr3	47277951	47277951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccatgagcaggcggtggcGacactgatccactaggtgct	9	7	13	12	2	0	2	0	2	0	0	1	3	1	2	2	4	2	2	2	4	1	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:47277951G>A	ENST00000335044.2	-	18	2440	c.2083C>T	c.(2083-2085)Cgc>Tgc	p.R695C	KIF9_ENST00000265529.3_Missense_Mutation_p.R695C|KIF9_ENST00000452770.2_Missense_Mutation_p.R695C|KIF9_ENST00000444589.2_Missense_Mutation_p.R630C|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Missense_Mutation_p.R537C	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	695					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGGCGGTGGCGACACTGATCC	0.592													11	31					0	0	0	0	A	47277951	G	A	47277951	3	1	98	1	0	0	0	0	1	0	0	0	8361	1058	37	1	305	1	KIF9	3	47277951	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	491797	47277951	150744479	29	18813											
EPHA6	285220	broad.mit.edu	37	chr3	96533606	96533606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcgcagggggcgccccGggacaccccctgcgggccgg	3	2	17	19	6	0	0	0	0	0	0	1	1	0	1	6	5	1	1	6	5	0	0			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:96533606G>T	ENST00000389672.5	+	1	177	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	EPHA6_ENST00000470610.2_Missense_Mutation_p.G47W	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGGGCGCCCCGGGACACCCCC	0.711													5	26					1.23904e-05	1.4791e-05	1	0	T	96533606	G	T	96533606	3	4	98	1	0	0	0	0	1	0	0	0	5209	1116	39	3	141	3	EPHA6	3	96533606	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	49255655	96533606	101488824	30	18814											
COL6A6	131873	broad.mit.edu	37	chr3	130283942	130283942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggattcttggaagaaagtGtatctgcccttgacataaag	14	11	10	6	0	2	2	0	1	2	1	2	4	2	4	1	2	1	1	1	2	6	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:130283942G>T	ENST00000358511.6	+	3	797	c.766G>T	c.(766-768)Gta>Tta	p.V256L	COL6A6_ENST00000453409.2_Missense_Mutation_p.V256L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	256	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGAAGAAAGTGTATCTGCCCT	0.408													32	181					1.08312e-15	1.44668e-15	1	0	T	130283942	G	T	130283942	3	4	98	1	0	0	0	0	1	0	0	0	3733	1377	48	4	776	4	COL6A6	3	130283942	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	33750336	130283942	67738488	31	18815											
COL6A6	131873	broad.mit.edu	37	chr3	130287412	130287412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acattctgcagcgcattgaaGatgatcttgtttttggaata	11	15	9	6	1	2	3	0	2	2	1	2	4	2	4	0	1	2	3	0	1	3	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:130287412G>C	ENST00000358511.6	+	5	2396	c.2365G>C	c.(2365-2367)Gat>Cat	p.D789H	COL6A6_ENST00000453409.2_Missense_Mutation_p.D789H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	789	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCGCATTGAAGATGATCTTGT	0.463													8	85					0	0	0	0	C	130287412	G	C	130287412	3	2	98	1	0	0	0	0	1	0	0	0	3733	942	33	2	2383	2	COL6A6	3	130287412	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	3470	130287412	67735018	32	18816											
TOPBP1	11073	broad.mit.edu	37	chr3	133372361	133372361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctcttggcacactcataCttctgacctgtggcgttcat	7	14	7	13	1	4	1	2	1	2	0	5	1	4	1	1	2	1	2	1	2	1	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:133372361C>T	ENST00000260810.5	-	7	881	c.750G>A	c.(748-750)aaG>aaA	p.K250K	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	250	BRCT 2.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CACACTCATACTTCTGACCTG	0.348								Other conserved DNA damage response genes					7	27					0	0	0	0	T	133372361	C	T	133372361	2	4	98	1	0	0	0	0	0	0	0	1	16464	564	20	4		4	TOPBP1	3	133372361	Silent	SNP	C	TCGA-CN-6019-01A-11D-1683-08	3084949	133372361	64650069	33	18817											
TF	7018	broad.mit.edu	37	chr3	133495987	133495987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcagagatgacacagtatGtttggccaaacttcatgaca	13	11	9	8	0	2	3	2	2	0	1	2	4	2	3	1	1	1	3	1	1	2	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:133495987G>A	ENST00000402696.3	+	16	2452	c.1967G>A	c.(1966-1968)tGt>tAt	p.C656Y	TF_ENST00000264998.3_Missense_Mutation_p.C529Y	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	656	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GACACAGTATGTTTGGCCAAA	0.433													5	75					0	0	0	0	A	133495987	G	A	133495987	3	1	98	1	0	0	0	0	1	0	0	0	15879	1377	48	4	2029	4	TF	3	133495987	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	123626	133495987	64526443	34	18818											
IL20RB	53833	broad.mit.edu	37	chr3	136714353	136714353	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctggaaaatgggccggctGctccagtactcctgttgccc	6	10	12	13	1	1	0	0	0	1	0	3	1	3	1	4	3	3	4	4	3	3	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:136714353G>T	ENST00000329582.4	+	6	1029	c.780G>T	c.(778-780)ctG>ctT	p.L260L	IL20RB_ENST00000309741.5_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	260						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGGGCCGGCTGCTCCAGTACT	0.522													11	472					3.86212e-05	4.49796e-05	1	0	T	136714353	G	T	136714353	2	4	98	1	0	0	0	0	0	0	0	1	7722	1306	46	4		4	IL20RB	3	136714353	Silent	SNP	G	TCGA-CN-6019-01A-11D-1683-08	3218366	136714353	61308077	35	18819											
ZIC4	84107	broad.mit.edu	37	chr3	147109007	147109007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagcgccgctcgcagccctCgaactcgcatctgaagggct	8	6	12	15	5	1	1	0	1	1	0	4	3	1	1	2	1	3	4	2	1	3	0			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:147109007C>T	ENST00000383075.3	-	4	1227	c.715G>A	c.(715-717)Gag>Aag	p.E239K	ZIC4_ENST00000425731.3_Missense_Mutation_p.E277K|ZIC4_ENST00000473123.1_Missense_Mutation_p.E239K|ZIC4_ENST00000491672.1_Missense_Mutation_p.E33K|ZIC4_ENST00000484399.1_Missense_Mutation_p.E239K|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000525172.2_Missense_Mutation_p.E289K	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	239						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCGCAGCCCTCGAACTCGCAT	0.617													6	38					0	0	0	0	T	147109007	C	T	147109007	3	4	98	1	0	0	0	0	1	0	0	0	17776	893	31	1	297	1	ZIC4	3	147109007	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	10394654	147109007	50913423	36	18820											
ZIC4	84107	broad.mit.edu	37	chr3	147113980	147113980	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgcatgtagcggaagAaagcgccaggaccgtggggc	9	4	18	10	4	0	1	0	0	0	1	0	3	0	3	2	5	2	3	2	5	3	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:147113980A>T	ENST00000383075.3	-	3	859	c.347T>A	c.(346-348)tTc>tAc	p.F116Y	ZIC4_ENST00000425731.3_Missense_Mutation_p.F154Y|ZIC4_ENST00000473123.1_Missense_Mutation_p.F116Y|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.F116Y|ZIC4_ENST00000525172.2_Missense_Mutation_p.F166Y	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	116						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTAGCGGAAGAAAGCGCCAGG	0.677													8	72					0	0	0	0	T	147113980	A	T	147113980	3	4	98	1	0	0	0	0	1	0	0	0	17776	246	9	5	669	5	ZIC4	3	147113980	Missense_Mutation	SNP	A	TCGA-CN-6019-01A-11D-1683-08	4973	147113980	50908450	37	18821											
GPR149	344758	broad.mit.edu	37	chr3	154138953	154138953	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagtttcttcatagttaaTatcacctcctgttttgtcag	8	18	7	8	0	4	0	3	0	1	0	5	0	5	0	2	1	0	4	2	1	4	8			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:154138953T>C	ENST00000389740.2	-	3	1597	c.1498A>G	c.(1498-1500)Att>Gtt	p.I500V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	500						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCATAGTTAATATCACCTCCT	0.398													35	201					0	0	0	0	C	154138953	T	C	154138953	3	2	98	1	0	0	0	0	1	0	0	0	6703	1406	49	5	705	5	GPR149	3	154138953	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	7024973	154138953	43883477	38	18822											
KCNIP4	80333	broad.mit.edu	37	chr4	20852192	20852192	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatcctctgtaaaggatctGaagctctttcttggtaaatt	12	15	7	7	0	4	1	0	1	4	0	5	2	5	2	1	2	1	3	1	2	6	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:20852192G>A	ENST00000382148.3	-	2	523	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	KCNIP4_ENST00000382152.2_Nonsense_Mutation_p.Q88*|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000447367.2_Nonsense_Mutation_p.Q54*|KCNIP4_ENST00000382150.4_Nonsense_Mutation_p.Q67*|KCNIP4_ENST00000359001.5_Nonsense_Mutation_p.Q26*|KCNIP4_ENST00000509207.1_Nonsense_Mutation_p.Q26*	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	88	EF-hand 1; degenerate.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TAAAGGATCTGAAGCTCTTTC	0.458													16	79					0	0	0	0	A	20852192	G	A	20852192	4	1	98	1	0	0	0	0	0	1	0	0	8095	1299	45	2	518	2	KCNIP4	4	20852192	Nonsense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08		20852192	170302084	39	18823											
GABRG1	2565	broad.mit.edu	37	chr4	46043265	46043265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatccaggatggagaccagGagtcatctgagcacaataat	14	7	12	8	0	2	2	1	1	1	1	3	6	3	5	2	4	1	1	2	4	2	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:46043265G>T	ENST00000295452.4	-	9	1305	c.1138C>A	c.(1138-1140)Cct>Act	p.P380T		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	380					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGGAGACCAGGAGTCATCTGA	0.393													5	24					8.12818e-05	9.35231e-05	1	0	T	46043265	G	T	46043265	3	4	98	1	0	0	0	0	1	0	0	0	6219	1174	41	2	263	2	GABRG1	4	46043265	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	25191073	46043265	145111011	40	18824											
CHIC2	26511	broad.mit.edu	37	chr4	54915177	54915177	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctaatgtgcagcagcaaCaaaggcagccacaaagtagc	17	4	9	11	0	0	0	0	0	0	0	0	0	0	0	2	1	7	5	2	1	6	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:54915177C>A	ENST00000263921.3	-	3	664	c.275G>T	c.(274-276)tGt>tTt	p.C92F	FIP1L1_ENST00000507166.1_Intron|CHIC2_ENST00000512964.1_Missense_Mutation_p.C92F	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	92						plasma membrane	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GCAGCAGCAACAAAGGCAGCC	0.373			T	ETV6	AML								5	11					0.000602214	0.000668738	1	0	A	54915177	C	A	54915177	3	1	98	1	0	0	0	0	1	0	0	0	3373	478	17	4	238	4	CHIC2	4	54915177	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	8871912	54915177	136239099	41	18825											
C4orf21	55345	broad.mit.edu	37	chr4	113468532	113468532	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaggtagctgtttgggaTccccaacaagaatcagcttt	11	11	11	8	0	1	1	1	0	0	1	2	3	2	3	2	3	3	4	2	3	5	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:113468532T>G	ENST00000505019.1	-	24	5632	c.5507A>C	c.(5506-5508)gAt>gCt	p.D1836A		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0								p.D1836V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTGTTTGGGATCCCCAACAAG	0.358													3	19					0	0	0	0	G	113468532	T	G	113468532	3	3	98	1	0	0	0	0	1	0	0	0	2275	1435	50	5	827	5	C4orf21	4	113468532	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	58553355	113468532	77685744	42	18826											
PRDM5	11107	broad.mit.edu	37	chr4	121742406	121742406	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataatttgctgttcttccTcctcagcctccatgtcacta	7	16	4	14	0	4	0	3	0	1	0	7	0	7	0	4	0	2	2	4	0	2	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:121742406T>A	ENST00000264808.3	-	4	635	c.395A>T	c.(394-396)gAg>gTg	p.E132V	PRDM5_ENST00000428209.2_Missense_Mutation_p.E132V|PRDM5_ENST00000515109.1_Missense_Mutation_p.E132V	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	132					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGTTCTTCCTCCTCAGCCTC	0.403													28	94					0	0	0	0	A	121742406	T	A	121742406	3	1	98	1	0	0	0	0	1	0	0	0	12540	1551	54	5	1549	5	PRDM5	4	121742406	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	8273874	121742406	69411870	43	18827											
FGA	2243	broad.mit.edu	37	chr4	155505421	155505421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcccccagggtagtagattCcattgagattggctgcttgg	8	11	13	9	0	0	2	0	1	0	2	1	3	1	2	3	3	2	4	3	3	2	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:155505421C>G	ENST00000302053.3	-	6	2534	c.2456G>C	c.(2455-2457)gGa>gCa	p.G819A		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	819	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTAGTAGATTCCATTGAGATT	0.493													26	85					0	0	0	0	G	155505421	C	G	155505421	3	3	98	1	0	0	0	0	1	0	0	0	5875	855	30	2	148	2	FGA	4	155505421	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	33763015	155505421	35648855	44	18828											
FSTL5	56884	broad.mit.edu	37	chr4	162697070	162697070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacaagtccattactgtctGcatcaaaatatttaaacatt	15	14	3	9	0	2	0	1	0	1	0	3	0	3	0	1	0	4	1	1	0	8	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:162697070G>T	ENST00000306100.5	-	5	1002	c.566C>A	c.(565-567)gCa>gAa	p.A189E	FSTL5_ENST00000379164.4_Missense_Mutation_p.A188E|FSTL5_ENST00000427802.2_Missense_Mutation_p.A188E|FSTL5_ENST00000536695.1_Missense_Mutation_p.A188E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	189	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATTACTGTCTGCATCAAAATA	0.294													10	50					5.50884e-06	6.65942e-06	1	0	T	162697070	G	T	162697070	3	4	98	1	0	0	0	0	1	0	0	0	6128	1319	46	4	2025	4	FSTL5	4	162697070	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	7191649	162697070	28457206	45	18829											
STOX2	56977	broad.mit.edu	37	chr4	184938290	184938290	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaagcattgttgaaagtaaCcgtcgtcagaaccccgcttt	11	11	8	11	3	2	2	2	1	0	1	3	2	2	2	3	0	3	4	3	0	4	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:184938290C>T	ENST00000308497.4	+	4	4069	c.2634C>T	c.(2632-2634)aaC>aaT	p.N878N		NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	878					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TTGAAAGTAACCGTCGTCAGA	0.498													4	14					0	0	0	0	T	184938290	C	T	184938290	2	4	98	1	0	0	0	0	0	0	0	1	15410	506	18	4		4	STOX2	4	184938290	Silent	SNP	C	TCGA-CN-6019-01A-11D-1683-08	22241220	184938290	6215986	46	18830											
FBXL7	23194	broad.mit.edu	37	chr5	15928334	15928334	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggacccgcggctctggAggactatccgcctgacgggc	5	6	15	15	4	1	1	0	1	1	0	2	4	2	4	4	5	0	1	4	5	1	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr5:15928334A>T	ENST00000504595.1	+	3	944	c.463A>T	c.(463-465)Agg>Tgg	p.R155W	FBXL7_ENST00000510662.1_Missense_Mutation_p.R108W|FBXL7_ENST00000329673.7_Missense_Mutation_p.R143W	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	155	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCGGCTCTGGAGGACTATCCG	0.657													4	8					0	0	0	0	T	15928334	A	T	15928334	3	4	98	1	0	0	0	0	1	0	0	0	5769	295	11	5	473	5	FBXL7	5	15928334	Missense_Mutation	SNP	A	TCGA-CN-6019-01A-11D-1683-08		15928334	164986926	47	18831											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576173	33576173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctcgctccagtttcCgacgatccagtgtgcagagc	7	11	9	14	3	1	1	0	0	1	1	5	3	4	1	4	0	3	3	4	0	1	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr5:33576173C>T	ENST00000504830.1	-	19	4293	c.3958G>A	c.(3958-3960)Gga>Aga	p.G1320R	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1235R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1320	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTCCAGTTTCCGACGATCCAG	0.448										HNSCC(64;0.19)			18	60					0	0	0	0	T	33576173	C	T	33576173	3	4	98	1	0	0	0	0	1	0	0	0	257	661	23	1	850	1	ADAMTS12	5	33576173	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	17647839	33576173	147339087	48	18832											
HSD17B4	3295	broad.mit.edu	37	chr5	118810155	118810155	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatgcttttggaagaataGgtgatgtttctttgtgttat	8	19	12	2	0	1	2	0	1	1	1	1	4	1	4	0	3	1	3	0	3	4	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr5:118810155G>A	ENST00000414835.2	+	0	291				HSD17B4_ENST00000504811.1_Splice_Site_p.D119_splice|HSD17B4_ENST00000515320.1_Splice_Site_p.D76_splice|HSD17B4_ENST00000510025.1_Splice_Site_p.D70_splice|HSD17B4_ENST00000256216.6_Splice_Site_p.D94_splice			P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TGGAAGAATAGGTGATGTTTC	0.388													12	82					0	0	0	0	A	118810155	G	A	118810155	1	1	98	1	0	0	0	0	0	0	0	0	7436	1014	35	4		4	HSD17B4	5	118810155	Translation_Start_Site	SNP	G	TCGA-CN-6019-01A-11D-1683-08	85233982	118810155	62105105	49	18833											
TIMD4	91937	broad.mit.edu	37	chr5	156349204	156349204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgggcatttcattcttCattgacatgggtattccatc	9	15	9	8	0	3	2	2	1	1	1	5	3	4	2	1	2	0	2	1	2	1	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr5:156349204C>A	ENST00000274532.2	-	7	974	c.918G>T	c.(916-918)atG>atT	p.M306I	TIMD4_ENST00000406964.1_Missense_Mutation_p.M8I|TIMD4_ENST00000407087.3_Missense_Mutation_p.M278I	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	306						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTCATTCTTCATTGACATGG	0.502													5	28					3.59834e-05	4.21646e-05	1	0	A	156349204	C	A	156349204	3	1	98	1	0	0	0	0	1	0	0	0	15997	826	29	2	230	2	TIMD4	5	156349204	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	37539049	156349204	24566056	50	18834											
STK10	6793	broad.mit.edu	37	chr5	171517330	171517330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatccaccacaaatttgcGtgtccgcttgagggtttttt	8	14	8	11	2	0	1	0	1	0	0	2	1	2	1	4	1	1	2	4	1	1	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr5:171517330G>A	ENST00000176763.5	-	10	1934	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	531							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACAAATTTGCGTGTCCGCTTG	0.502													7	188					0	0	0	0	A	171517330	G	A	171517330	3	1	98	1	0	0	0	0	1	0	0	0	15376	1145	40	1	1355	1	STK10	5	171517330	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	15168126	171517330	9397930	51	18835											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834730	27834730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttcggcttaactgccttgGgcttggcaggactcttggtt	4	14	12	11	1	1	0	0	0	1	0	2	1	1	1	2	5	2	4	2	5	1	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:27834730G>T	ENST00000331442.3	-	1	629	c.578C>A	c.(577-579)cCc>cAc	p.P193H		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	193					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A191_A195delAKPKA(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						AACTGCCTTGGGCTTGGCAGG	0.572													19	77					1.2644e-06	1.54808e-06	1	0	T	27834730	G	T	27834730	3	4	98	1	0	0	0	0	1	0	0	0	7173	1232	43	4	106	4	HIST1H1B	6	27834730	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08		27834730	143280337	52	18836											
PPP1R10	5514	broad.mit.edu	37	chr6	30574254	30574254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagtcttaccagtggaacGgaacttggcatgactgggtg	9	9	14	9	1	1	1	0	1	1	0	1	3	1	3	2	4	3	1	2	4	3	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:30574254G>A	ENST00000376511.2	-	8	1177	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	209	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCAGTGGAACGGAACTTGGCA	0.567													12	78					0	0	0	0	A	30574254	G	A	30574254	3	1	98	1	0	0	0	0	1	0	0	0	12428	1116	39	1	2249	1	PPP1R10	6	30574254	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	2739524	30574254	140540813	53	18837											
VPS52	6293	broad.mit.edu	37	chr6	33236966	33236966	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccaacatctgctccattcGctgtagggagggtagatgtt	8	12	11	10	1	1	1	0	0	1	1	4	2	3	2	2	2	2	5	2	2	3	4	rs148755872	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:33236966G>A	ENST00000445902.2	-	6	591	c.372_splice	c.e6-1	p.R125_splice	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	125					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGCTCCATTCGCTGTAGGGAG	0.498													7	99					0	0	0	0	A	33236966	G	A	33236966	5	1	98	1	0	0	0	0	0	0	1	0	17310	1101	38	1	1858	1	VPS52	6	33236966	Splice_Site	SNP	G	TCGA-CN-6019-01A-11D-1683-08	2662712	33236966	137878101	54	18838											
PKHD1	5314	broad.mit.edu	37	chr6	51923195	51923195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaagtggtgaccacatcagGattcagccaggtgttgtgaa	11	10	13	7	0	2	2	2	2	0	0	2	3	2	3	2	3	1	2	2	3	2	3			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:51923195G>T	ENST00000371117.3	-	16	1713	c.1438C>A	c.(1438-1440)Cct>Act	p.P480T	PKHD1_ENST00000340994.4_Missense_Mutation_p.P480T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	480					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCACATCAGGATTCAGCCAG	0.552													29	94					3.65163e-15	4.84348e-15	1	0	T	51923195	G	T	51923195	3	4	98	1	0	0	0	0	1	0	0	0	12043	1174	41	2	11033	2	PKHD1	6	51923195	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	18686229	51923195	119191872	55	18839											
PHF3	23469	broad.mit.edu	37	chr6	64416739	64416739	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttaccaaagcctatccagtAtctggctccccagaatacct	11	10	6	14	0	1	1	0	0	1	1	3	1	3	1	6	1	3	3	6	1	6	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:64416739A>G	ENST00000262043.3	+	13	4024	c.3684A>G	c.(3682-3684)gtA>gtG	p.V1228V	PHF3_ENST00000393387.1_Silent_p.V1228V			Q92576	PHF3_HUMAN	PHD finger protein 3	1228					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCTATCCAGTATCTGGCTCCC	0.398													29	102					0	0	0	0	G	64416739	A	G	64416739	2	3	98	1	0	0	0	0	0	0	0	1	11908	436	16	5		5	PHF3	6	64416739	Silent	SNP	A	TCGA-CN-6019-01A-11D-1683-08	12493544	64416739	106698328	56	18840											
EYS	346007	broad.mit.edu	37	chr6	66094289	66094289	+	Missense_Mutation	SNP	C	C	A																															aattacttactttgaatcttCcaattatattgaaacaccat																										TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:66094289C>A	ENST00000503581.1	-	8	1826	c.1289G>T	c.(1288-1290)gGa>gTa	p.G430V	EYS_ENST00000370618.3_Missense_Mutation_p.G430V|EYS_ENST00000393380.2_Missense_Mutation_p.G430V|EYS_ENST00000370621.3_Missense_Mutation_p.G430V|EYS_ENST00000342421.5_Missense_Mutation_p.G430V|EYS_ENST00000370616.2_Missense_Mutation_p.G430V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	430					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTTGAATCTTCCAATTATATT	0.308													5	42					0.0215528	0.0221321	1	0	A	66094289	C	A	66094289	3	1	98	1	0	0	0	0	1	0	0	0	5370	855	30	2	8251	2	EYS	6	66094289	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	1677550	66094289	105020778	57	18841	155	2									
EYS	346007	broad.mit.edu	37	chr6	66094290	66094290	+	Nonsense_Mutation	SNP	C	C	A																															attacttactttgaatcttcCaattatattgaaacaccatt																										TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:66094290C>A	ENST00000503581.1	-	8	1825	c.1288G>T	c.(1288-1290)Gga>Tga	p.G430*	EYS_ENST00000370618.3_Nonsense_Mutation_p.G430*|EYS_ENST00000393380.2_Nonsense_Mutation_p.G430*|EYS_ENST00000370621.3_Nonsense_Mutation_p.G430*|EYS_ENST00000342421.5_Nonsense_Mutation_p.G430*|EYS_ENST00000370616.2_Nonsense_Mutation_p.G430*	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	430					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTGAATCTTCCAATTATATTG	0.308													5	45					0.0215528	0.0221321	1	0	A	66094290	C	A	66094290	4	1	98	1	0	0	0	0	0	1	0	0	5370	603	21	4	8252	4	EYS	6	66094290	Nonsense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	1	66094290	105020777	58	18842	155	2									
SLC16A10	117247	broad.mit.edu	37	chr6	111409193	111409193	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctggcggccatgtggTgcaacgggtcggtgttcggc	4	10	18	9	4	0	1	0	1	0	0	2	1	0	1	1	6	3	3	1	6	1	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:111409193T>C	ENST00000368851.5	+	1	413	c.238T>C	c.(238-240)Tgc>Cgc	p.C80R		NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	80					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GGCCATGTGGTGCAACGGGTC	0.662													6	20					0	0	0	0	C	111409193	T	C	111409193	3	2	98	1	0	0	0	0	1	0	0	0	14491	1696	59	5	240	5	SLC16A10	6	111409193	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	45314903	111409193	59705874	59	18843											
FABP7	2173	broad.mit.edu	37	chr6	123101594	123101594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgaaaccactgcagatGatagaaactgtaaggtgaga	16	9	11	5	0	0	6	0	4	0	3	0	7	0	6	1	1	3	2	1	1	4	3			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:123101594G>T	ENST00000356535.4	+	2	268	c.232G>T	c.(232-234)Gat>Tat	p.D78Y	FABP7_ENST00000368444.3_Missense_Mutation_p.D78Y			O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	78					negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)	CACTGCAGATGATAGAAACTG	0.413													3	29					0.004672	0.00501321	1	0	T	123101594	G	T	123101594	3	4	98	1	0	0	0	0	1	0	0	0	5403	1290	45	2	238	2	FABP7	6	123101594	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	11692401	123101594	48013473	60	18844											
EPB41L2	2037	broad.mit.edu	37	chr6	131191188	131191188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatctctttaccattcatttCttctgtgattactctttcgt	6	22	3	10	1	5	1	1	1	4	0	7	1	5	1	1	0	2	0	1	0	3	8			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:131191188C>T	ENST00000337057.3	-	15	2303	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E638K|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E638K|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E708K|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E638K|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E86K|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E638K|EPB41L2_ENST00000528282.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	708					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCATTCATTTCTTCTGTGATT	0.458													5	64					0	0	0	0	T	131191188	C	T	131191188	3	4	98	1	0	0	0	0	1	0	0	0	5191	922	32	2	915	2	EPB41L2	6	131191188	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	8089594	131191188	39923879	61	18845											
EYA4	2070	broad.mit.edu	37	chr6	133783834	133783834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccattacagagtggctGcctcagttacagcccagggt	8	9	11	13	0	1	1	1	0	0	1	2	1	2	1	4	2	4	2	4	2	2	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:133783834G>T	ENST00000367895.5	+	9	1120	c.656G>T	c.(655-657)tGc>tTc	p.C219F	EYA4_ENST00000431403.2_Missense_Mutation_p.C219F|EYA4_ENST00000430974.2_Missense_Mutation_p.C165F|EYA4_ENST00000531901.1_Missense_Mutation_p.C219F|EYA4_ENST00000355286.6_Missense_Mutation_p.C196F|EYA4_ENST00000525849.1_Missense_Mutation_p.C196F|EYA4_ENST00000355167.3_Missense_Mutation_p.C219F|EYA4_ENST00000452339.2_Missense_Mutation_p.C165F	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	219					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGAGTGGCTGCCTCAGTTAC	0.468													13	46					6.49762e-13	8.50031e-13	1	0	T	133783834	G	T	133783834	3	4	98	1	0	0	0	0	1	0	0	0	5369	1319	46	4	686	4	EYA4	6	133783834	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	2592646	133783834	37331233	62	18846											
PLEKHG1	57480	broad.mit.edu	37	chr6	151152187	151152187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggagatgactccctttgGgtcatccatagagttgacta	10	11	12	8	0	1	4	1	2	0	2	3	6	3	5	2	3	0	1	2	3	2	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:151152187G>C	ENST00000367328.1	+	16	2252	c.1940G>C	c.(1939-1941)gGg>gCg	p.G647A	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.G647A	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	647					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACTCCCTTTGGGTCATCCATA	0.448													7	34					0	0	0	0	C	151152187	G	C	151152187	3	2	98	1	0	0	0	0	1	0	0	0	12140	1232	43	4	1994	4	PLEKHG1	6	151152187	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	17368353	151152187	19962880	63	18847											
SYNE1	23345	broad.mit.edu	37	chr6	152501328	152501328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccattctgagaaactttGctttccatttgagtcaacca	10	15	5	11	0	3	2	1	2	2	1	5	3	4	2	3	0	3	1	3	0	2	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:152501328G>T	ENST00000367255.5	-	129	24004	c.23403C>A	c.(23401-23403)agC>agA	p.S7801R	SYNE1_ENST00000356820.4_Missense_Mutation_p.S2325R|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7730R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7730R|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7413R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7801R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7801					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGAAACTTTGCTTTCCATTT	0.403										HNSCC(10;0.0054)			18	75					1.99824e-07	2.46234e-07	1	0	T	152501328	G	T	152501328	3	4	98	1	0	0	0	0	1	0	0	0	15536	1310	46	4	3135	4	SYNE1	6	152501328	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	1349141	152501328	18613739	64	18848											
SYNE1	23345	broad.mit.edu	37	chr6	152529258	152529258	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actggcgaatctggctgtcaAtgatcccccgcctctgctgg	6	10	11	14	2	3	1	1	1	2	0	4	2	4	1	3	3	1	2	3	3	2	0			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:152529258A>T	ENST00000367255.5	-	125	23274	c.22673T>A	c.(22672-22674)aTt>aAt	p.I7558N	SYNE1_ENST00000356820.4_Missense_Mutation_p.I2082N|SYNE1_ENST00000448038.1_Missense_Mutation_p.I7487N|SYNE1_ENST00000423061.1_Missense_Mutation_p.I7487N|SYNE1_ENST00000341594.5_Missense_Mutation_p.I7170N|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7558N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7558					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGGCTGTCAATGATCCCCCG	0.502										HNSCC(10;0.0054)			4	39					0	0	0	0	T	152529258	A	T	152529258	3	4	98	1	0	0	0	0	1	0	0	0	15536	101	4	5	3881	5	SYNE1	6	152529258	Missense_Mutation	SNP	A	TCGA-CN-6019-01A-11D-1683-08	27930	152529258	18585809	65	18849											
NFE2L3	9603	broad.mit.edu	37	chr7	26225151	26225151	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttagaagatgatgtatgTaacttgcaagcaaagaagga	18	10	10	3	0	0	4	0	1	0	3	0	5	0	5	0	1	3	4	0	1	8	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:26225151T>C	ENST00000056233.3	+	4	2092	c.1833T>C	c.(1831-1833)tgT>tgC	p.C611C		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	611	Leucine-zipper.				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ATGATGTATGTAACTTGCAAG	0.353													9	58					0	0	0	0	C	26225151	T	C	26225151	2	2	98	1	0	0	0	0	0	0	0	1	10439	1644	57	5		5	NFE2L3	7	26225151	Silent	SNP	T	TCGA-CN-6019-01A-11D-1683-08		26225151	132913512	66	18850											
MLXIPL	51085	broad.mit.edu	37	chr7	73008629	73008629	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagagcgggcagagagcaGtactggtccagccaggccag	10	3	17	11	2	0	2	0	0	0	2	1	4	1	2	3	4	4	3	3	4	1	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:73008629G>A	ENST00000313375.3	-	16	2462	c.2415C>T	c.(2413-2415)taC>taT	p.Y805Y	MLXIPL_ENST00000354613.1_Silent_p.Y784Y|MLXIPL_ENST00000395189.1_Silent_p.Y712Y|MLXIPL_ENST00000429400.2_Silent_p.Y786Y|MLXIPL_ENST00000434326.1_Silent_p.Y711Y|MLXIPL_ENST00000414749.2_Silent_p.Y803Y	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	805					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCAGAGAGCAGTACTGGTCCA	0.627													14	56					0	0	0	0	A	73008629	G	A	73008629	2	1	98	1	0	0	0	0	0	0	0	1	9706	1024	36	4		4	MLXIPL	7	73008629	Silent	SNP	G	TCGA-CN-6019-01A-11D-1683-08	46783478	73008629	86130034	67	18851											
ABHD11	83451	broad.mit.edu	37	chr7	73151996	73151996	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcctgcaggtcctggcTcatgatctcgtagctcatgt	7	12	11	11	1	3	1	2	1	1	0	6	1	5	1	2	3	2	4	2	3	2	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:73151996T>A	ENST00000222800.3	-	3	427	c.358A>T	c.(358-360)Agc>Tgc	p.S120C	ABHD11_ENST00000395147.4_Missense_Mutation_p.S120C|ABHD11_ENST00000458339.1_Missense_Mutation_p.S120C|ABHD11_ENST00000437775.2_Missense_Mutation_p.S113C	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	120							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGGTCCTGGCTCATGATCTCG	0.637													4	31					0	0	0	0	A	73151996	T	A	73151996	3	1	98	1	0	0	0	0	1	0	0	0	75	1551	54	5	605	5	ABHD11	7	73151996	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	143367	73151996	85986667	68	18852											
FZD1	8321	broad.mit.edu	37	chr7	90895658	90895658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaacgtggacgcgctgcGtggcttcgtgctggcgcccc	5	8	14	14	6	0	0	0	0	0	0	1	1	0	1	2	3	4	3	2	3	2	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:90895658G>T	ENST00000287934.2	+	1	1876	c.1463G>T	c.(1462-1464)cGt>cTt	p.R488L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	488					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GACGCGCTGCGTGGCTTCGTG	0.622													32	165					6.00712e-18	8.08e-18	1	0	T	90895658	G	T	90895658	3	4	98	1	0	0	0	0	1	0	0	0	6176	1145	40	3	1465	3	FZD1	7	90895658	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	17743662	90895658	68243005	69	18853											
CCDC132	55610	broad.mit.edu	37	chr7	92905556	92905556	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgttcttggttatgtggAactatgtgcaggaaacacag	11	13	12	5	0	1	0	0	0	1	0	1	2	1	2	0	3	3	4	0	3	4	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:92905556A>T	ENST00000544910.1	+	13	1011	c.791A>T	c.(790-792)gAa>gTa	p.E264V	CCDC132_ENST00000541136.1_Missense_Mutation_p.E105V|CCDC132_ENST00000317751.6_Missense_Mutation_p.E25V|CCDC132_ENST00000305866.5_Missense_Mutation_p.E294V|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Missense_Mutation_p.E294V	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	294										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GGTTATGTGGAACTATGTGCA	0.378													29	90					0	0	0	0	T	92905556	A	T	92905556	3	4	98	1	0	0	0	0	1	0	0	0	2792	246	9	5	927	5	CCDC132	7	92905556	Missense_Mutation	SNP	A	TCGA-CN-6019-01A-11D-1683-08	2009898	92905556	66233107	70	18854											
COL1A2	1278	broad.mit.edu	37	chr7	94058730	94058730	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcacttacactgttcttgtAgatggctgctctgtaagtaa	9	16	8	8	0	3	1	1	0	2	1	3	1	3	1	0	1	2	6	0	1	4	7			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:94058730A>G	ENST00000297268.6	+	51	4413	c.3942A>G	c.(3940-3942)gtA>gtG	p.V1314V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1314	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGTTCTTGTAGATGGCTGCT	0.478										HNSCC(75;0.22)			7	59					0	0	0	0	G	94058730	A	G	94058730	2	3	98	1	0	0	0	0	0	0	0	1	3708	407	15	5		5	COL1A2	7	94058730	Silent	SNP	A	TCGA-CN-6019-01A-11D-1683-08	1153174	94058730	65079933	71	18855											
RELN	5649	broad.mit.edu	37	chr7	103207056	103207056	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtaacttaccatgttgcGgttgccaccatcgaaatgcc	10	10	9	12	2	0	0	0	0	0	0	1	1	0	0	4	1	5	4	4	1	3	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:103207056G>C	ENST00000424685.2	-	32	4898	c.4739C>G	c.(4738-4740)cCg>cGg	p.P1580R	RELN_ENST00000343529.5_Missense_Mutation_p.P1580R|RELN_ENST00000428762.1_Missense_Mutation_p.P1580R			P78509	RELN_HUMAN	reelin	1580					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.P1580L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACCATGTTGCGGTTGCCACCA	0.483													14	43					0	0	0	0	C	103207056	G	C	103207056	3	2	98	1	0	0	0	0	1	0	0	0	13302	1116	39	3	5779	3	RELN	7	103207056	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	9148326	103207056	55931607	72	18856											
PAX4	5078	broad.mit.edu	37	chr7	127251714	127251714	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagggctgctgtgggcAcactgccaggggactgctaa	8	6	16	11	0	0	0	0	0	0	0	0	1	0	1	1	5	3	5	1	5	1	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:127251714A>G	ENST00000341640.2	-	8	969	c.764T>C	c.(763-765)gTg>gCg	p.V255A	PAX4_ENST00000463946.1_Missense_Mutation_p.V253A|PAX4_ENST00000338516.3_Silent_p.C244C|PAX4_ENST00000378740.2_Missense_Mutation_p.V255A	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	263					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TGCTGTGGGCACACTGCCAGG	0.582													15	71					0	0	0	0	G	127251714	A	G	127251714	3	3	98	1	0	0	0	0	1	0	0	0	11552	159	6	5	275	5	PAX4	7	127251714	Missense_Mutation	SNP	A	TCGA-CN-6019-01A-11D-1683-08	24044658	127251714	31886949	73	18857											
CREB3L2	64764	broad.mit.edu	37	chr7	137567275	137567275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgacaccctgagcagggagGaacctctatcccagcccccc	9	5	9	18	0	1	2	0	2	1	0	2	4	2	4	6	2	3	1	6	2	2	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:137567275G>A	ENST00000330387.6	-	11	1721	c.1370C>T	c.(1369-1371)tCc>tTc	p.S457F		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	457					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GAGCAGGGAGGAACCTCTATC	0.582			T	FUS	fibromyxoid sarcoma								6	42					0	0	0	0	A	137567275	G	A	137567275	3	1	98	1	0	0	0	0	1	0	0	0	3887	1174	41	2	200	2	CREB3L2	7	137567275	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	10315561	137567275	21571388	74	18858											
OR6V1	346517	broad.mit.edu	37	chr7	142749510	142749510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtgagctgcaggcccttCtgtatggccccttcctcatg	4	13	11	13	0	2	1	1	1	1	0	3	1	3	1	4	3	2	3	4	3	1	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:142749510C>T	ENST00000418316.1	+	1	94	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCAGGCCCTTCTGTATGGCCC	0.512													4	154					0	0	0	0	T	142749510	C	T	142749510	2	4	98	1	0	0	0	0	0	0	0	1	11282	912	32	2		2	OR6V1	7	142749510	Silent	SNP	C	TCGA-CN-6019-01A-11D-1683-08	5182235	142749510	16389153	75	18859											
C7orf33	202865	broad.mit.edu	37	chr7	148288032	148288032	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaatgcaagtggaagtTcaaagcctcagccttgaaga	15	7	10	9	0	2	2	2	1	0	1	2	3	2	3	3	1	3	2	3	1	6	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:148288032T>G	ENST00000307003.2	+	1	376	c.15T>G	c.(13-15)gtT>gtG	p.V5V		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	5										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAGTGGAAGTTCAAAGCCTCA	0.537													10	37					0	0	0	0	G	148288032	T	G	148288032	2	3	98	1	0	0	0	0	0	0	0	1	2411	1770	62	5		5	C7orf33	7	148288032	Silent	SNP	T	TCGA-CN-6019-01A-11D-1683-08	5538522	148288032	10850631	76	18860											
CLVS1	157807	broad.mit.edu	37	chr8	62212794	62212794	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaaaccgagaccattaCggcaggaagattcttttgct	12	10	10	9	2	1	2	0	0	1	2	1	5	1	4	2	3	3	2	2	3	4	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:62212794C>A	ENST00000519846.1	+	3	880	c.408C>A	c.(406-408)taC>taA	p.Y136*	CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Nonsense_Mutation_p.Y136*			Q8IUQ0	CLVS1_HUMAN	clavesin 1	136	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.Y136*(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGACCATTACGGCAGGAAGA	0.443													9	28					2.17888e-05	2.56892e-05	1	0	A	62212794	C	A	62212794	4	1	98	1	0	0	0	0	0	1	0	0	3601	547	19	3	410	3	CLVS1	8	62212794	Nonsense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08		62212794	84151228	77	18861											
NCOA2	10499	broad.mit.edu	37	chr8	71036232	71036232	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacctgtgttggtcgccaTggacacattgatgttcatgt	7	13	11	10	1	1	1	1	1	0	0	2	2	1	2	3	2	0	2	3	2	0	3			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:71036232T>A	ENST00000452400.2	-	21	4361	c.4180A>T	c.(4180-4182)Atg>Ttg	p.M1394L	NCOA2_ENST00000267974.4_Missense_Mutation_p.M482L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1394					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTGGTCGCCATGGACACATTG	0.517			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								6	30					0	0	0	0	A	71036232	T	A	71036232	3	1	98	1	0	0	0	0	1	0	0	0	10299	1464	51	5	226	5	NCOA2	8	71036232	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	8823438	71036232	75327790	78	18862											
C8orf37	157657	broad.mit.edu	37	chr8	96259940	96259940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggcaggcatatgcccGtgttcctttcttctttatca	7	15	7	12	1	3	0	1	0	2	0	4	0	4	0	2	2	1	3	2	2	2	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:96259940G>A	ENST00000286688.5	-	6	540	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	177										kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					GCATATGCCCGTGTTCCTTTC	0.393													7	45					0	0	0	0	A	96259940	G	A	96259940	3	1	98	1	0	0	0	0	1	0	0	0	2447	1144	40	1	98	1	C8orf37	8	96259940	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	25223708	96259940	50104082	79	18863											
CSMD3	114788	broad.mit.edu	37	chr8	114449052	114449052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagggtttggattcctttGctcggctttcccctttgcgg	2	15	11	13	2	0	0	0	0	0	0	3	1	2	1	4	4	2	3	4	4	0	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:114449052G>C	ENST00000297405.5	-	1	276	c.32C>G	c.(31-33)gCa>gGa	p.A11G	CSMD3_ENST00000455883.2_Missense_Mutation_p.A11G|CSMD3_ENST00000352409.3_Missense_Mutation_p.A11G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	11						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGATTCCTTTGCTCGGCTTTC	0.517										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	OREG0018933	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	79					0	0	0	0	C	114449052	G	C	114449052	3	2	98	1	0	0	0	0	1	0	0	0	3978	1319	46	4	11437	4	CSMD3	8	114449052	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	18189112	114449052	31914970	80	18864											
ENPP2	5168	broad.mit.edu	37	chr8	120595959	120595959	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaatgagtgacttaccaCacataacattgtaaagttca	17	12	5	7	0	1	2	1	2	0	0	1	2	1	2	1	0	2	2	1	0	6	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:120595959C>G	ENST00000427067.2	-	17	1709	c.1529G>C	c.(1528-1530)tGt>tCt	p.C510S	ENPP2_ENST00000075322.6_Missense_Mutation_p.C514S|ENPP2_ENST00000522826.1_Missense_Mutation_p.C514S|ENPP2_ENST00000522167.1_Missense_Mutation_p.C153S|ENPP2_ENST00000259486.6_Missense_Mutation_p.C566S			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	514					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGACTTACCACACATAACATT	0.318													10	63					0	0	0	0	G	120595959	C	G	120595959	3	3	98	1	0	0	0	0	1	0	0	0	5168	478	17	4	1165	4	ENPP2	8	120595959	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	6146907	120595959	25768063	81	18865											
COL22A1	169044	broad.mit.edu	37	chr8	139649017	139649017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccaacctcaccatctgCaccacgttctccttgacttc	7	11	4	19	1	3	1	1	1	2	0	5	1	3	1	5	0	3	2	5	0	1	3			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:139649017C>T	ENST00000303045.6	-	48	3969	c.3523G>A	c.(3523-3525)Gca>Aca	p.A1175T	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.A1155T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1175	Collagen-like 11.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCACCATCTGCACCACGTTCT	0.393										HNSCC(7;0.00092)			33	162					0	0	0	0	T	139649017	C	T	139649017	3	4	98	1	0	0	0	0	1	0	0	0	3711	710	25	4	1429	4	COL22A1	8	139649017	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	19053058	139649017	6715005	82	18866											
SPATC1	375686	broad.mit.edu	37	chr8	145095233	145095233	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaccaggggtctctcagaAcctgctggccaaccccatga	9	6	9	17	0	2	2	1	1	1	1	3	2	2	2	6	3	3	1	6	3	2	0			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:145095233A>T	ENST00000377470.3	+	2	737	c.635A>T	c.(634-636)aAc>aTc	p.N212I	SPATC1_ENST00000447830.2_Missense_Mutation_p.N212I	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	212										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCTCTCAGAACCTGCTGGCC	0.687													5	56					0	0	0	0	T	145095233	A	T	145095233	3	4	98	1	0	0	0	0	1	0	0	0	15107	43	2	5	641	5	SPATC1	8	145095233	Missense_Mutation	SNP	A	TCGA-CN-6019-01A-11D-1683-08	5446216	145095233	1268789	83	18867											
ZNF7	7553	broad.mit.edu	37	chr8	146054833	146054834	+	In_Frame_Ins	INS	-	-	TCC																															gggggctggcacccagggatINStcctggggtgctggtgtgtg																										TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:146054833_146054834insTCC	ENST00000446747.2	+	3	103_104	c.7_8insTCC	c.(7-9)cct>TCCcct	p.2_3insS	ZNF7_ENST00000528372.1_Intron|ZNF7_ENST00000544249.1_Intron|ZNF7_ENST00000325217.5_In_Frame_Ins_p.2_3insS|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000528130.1_Intron|ZNF7_ENST00000325241.6_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000532393.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	0					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		CACCCAGGGATTCCTGGGGTGC	0.624													50	253	---	---	---	---					TCC	146054834	-	TCC	146054833	7	5	98	1	0	1	1	0	0	0	0	0	18197	1508	52	0		0	ZNF7	8	146054833	In_Frame_Ins	INS	-	TCGA-CN-6019-01A-11D-1683-08	959600	146054833	309189	84	18868											
TLN1	7094	broad.mit.edu	37	chr9	35707795	35707795	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgactgtacaaactggcgcTtggcagtaggattggtggta	9	11	14	7	1	0	1	0	1	0	0	0	2	0	2	0	5	2	5	0	5	4	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr9:35707795T>A	ENST00000314888.9	-	35	4918	c.4565A>T	c.(4564-4566)aAg>aTg	p.K1522M	TLN1_ENST00000464379.1_5'UTR|TLN1_ENST00000540444.1_Missense_Mutation_p.K1522M	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1522	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AAACTGGCGCTTGGCAGTAGG	0.547													73	132					0	0	0	0	A	35707795	T	A	35707795	3	1	98	1	0	0	0	0	1	0	0	0	16041	1609	56	5	3152	5	TLN1	9	35707795	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08		35707795	105505636	85	18869											
TRIM14	9830	broad.mit.edu	37	chr9	100862405	100862405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtagtaatctgagttcagtGaatttccccttcagccaggt	10	13	9	9	0	3	2	2	2	1	0	4	2	4	2	3	1	1	3	3	1	3	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr9:100862405G>A	ENST00000341469.2	-	3	354	c.345C>T	c.(343-345)ttC>ttT	p.F115F	TRIM14_ENST00000375098.3_Silent_p.F115F|TRIM14_ENST00000342043.3_Silent_p.F115F	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	115						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				TGAGTTCAGTGAATTTCCCCT	0.438													14	71					0	0	0	0	A	100862405	G	A	100862405	2	1	98	1	0	0	0	0	0	0	0	1	16584	1281	45	2		2	TRIM14	9	100862405	Silent	SNP	G	TCGA-CN-6019-01A-11D-1683-08	65154610	100862405	40351026	86	18870											
INVS	27130	broad.mit.edu	37	chr9	103046750	103046750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcccccagcaagcagcctCctgctggcaacgtggcccaa	8	4	12	17	1	0	0	0	0	0	0	1	0	1	0	5	3	5	4	5	3	3	0			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr9:103046750C>T	ENST00000262457.2	+	13	2118	c.1933C>T	c.(1933-1935)Cct>Tct	p.P645S	INVS_ENST00000262456.2_Missense_Mutation_p.P645S|INVS_ENST00000541287.1_Missense_Mutation_p.P549S	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	645					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CAAGCAGCCTCCTGCTGGCAA	0.652													9	40					0	0	0	0	T	103046750	C	T	103046750	3	4	98	1	0	0	0	0	1	0	0	0	7840	855	30	2	1979	2	INVS	9	103046750	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	2184345	103046750	38166681	87	18871											
SEC16A	9919	broad.mit.edu	37	chr9	139345823	139345823	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcggcacgatcccaccctGggggggcctccgagtctggc	5	6	15	15	3	1	0	0	0	1	0	4	2	3	0	4	5	0	1	4	5	0	0			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr9:139345823G>C	ENST00000313050.7	-	21	6270	c.6197C>G	c.(6196-6198)cCa>cGa	p.P2066R	SEC16A_ENST00000431893.2_Missense_Mutation_p.P1888R|SEC16A_ENST00000290037.6_Missense_Mutation_p.P1888R|SEC16A_ENST00000371706.3_Missense_Mutation_p.P1888R	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1888	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATCCCACCCTGGGGGGGCCTC	0.632													3	23					0	0	0	0	C	139345823	G	C	139345823	3	2	98	1	0	0	0	0	1	0	0	0	14073	1348	47	4	916	4	SEC16A	9	139345823	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	36299073	139345823	1867608	88	18872											
DNMBP	23268	broad.mit.edu	37	chr10	101731794	101731794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccaccactgccagcacctCaataatatctcccacaaaga	15	7	3	16	0	2	1	1	0	1	1	4	1	3	1	5	0	2	1	5	0	4	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr10:101731794C>T	ENST00000342239.3	-	2	179	c.88G>A	c.(88-90)Gag>Aag	p.E30K	DNMBP_ENST00000324109.4_Missense_Mutation_p.E30K			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	30	SH3 1.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCCAGCACCTCAATAATATCT	0.468													32	103					0	0	0	0	T	101731794	C	T	101731794	3	4	98	1	0	0	0	0	1	0	0	0	4710	835	29	2	4709	2	DNMBP	10	101731794	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08		101731794	33802953	89	18873											
MUC5B	727897	broad.mit.edu	37	chr11	1263968	1263968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacagtcaccagctccaaagCcactccctcctccagtccag	10	6	5	20	0	1	0	1	0	0	0	6	0	6	0	7	0	2	1	7	0	1	0			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr11:1263968C>T	ENST00000447027.1	+	31	5925	c.5867C>T	c.(5866-5868)gCc>gTc	p.A1956V	MUC5B_ENST00000529681.1_Missense_Mutation_p.A1953V|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1953	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			S -> F (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTCCAAAGCCACTCCCTCC	0.632													25	94					0	0	0	0	T	1263968	C	T	1263968	3	4	98	1	0	0	0	0	1	0	0	0	10049	739	26	4	5989	4	MUC5B	11	1263968	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08		1263968	133742548	90	18874											
OR5M11	219487	broad.mit.edu	37	chr11	56309937	56309937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattttagattcctcaacaGtcttatctgttggtggtctt	7	20	7	7	0	4	1	1	0	3	1	5	1	5	1	1	2	1	1	1	2	4	7			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr11:56309937G>T	ENST00000528616.2	-	1	820	c.797C>A	c.(796-798)aCt>aAt	p.T266N		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TTCCTCAACAGTCTTATCTGT	0.423													7	54					0.0293803	0.0298492	1	0	T	56309937	G	T	56309937	3	4	98	1	0	0	0	0	1	0	0	0	11245	1029	36	4	123	4	OR5M11	11	56309937	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	55045969	56309937	78696579	91	18875											
C11orf53	341032	broad.mit.edu	37	chr11	111156591	111156591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagatctgcaccacactccgGggtaccctaccccgcctcct	8	7	7	19	2	1	1	0	0	1	1	3	1	3	1	7	2	3	2	7	2	3	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr11:111156591G>A	ENST00000280325.4	+	4	670	c.523G>A	c.(523-525)Ggg>Agg	p.G175R		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	175										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CCACACTCCGGGGTACCCTAC	0.622													24	103					0	0	0	0	A	111156591	G	A	111156591	3	1	98	1	0	0	0	0	1	0	0	0	1659	1232	43	4	533	4	C11orf53	11	111156591	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	54846654	111156591	23849925	92	18876											
ANO2	57101	broad.mit.edu	37	chr12	5908715	5908715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttatagaacactccatagCgcgcccattcttgatatagc	12	11	6	12	2	1	2	0	1	1	1	2	2	2	2	2	0	3	0	2	0	6	7			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:5908715C>T	ENST00000327087.8	-	10	1072	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	ANO2_ENST00000546188.1_Missense_Mutation_p.R335H|ANO2_ENST00000356134.5_Missense_Mutation_p.R335H			Q9NQ90	ANO2_HUMAN	anoctamin 2	339						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.R335H(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CACTCCATAGCGCGCCCATTC	0.418													4	32					0	0	0	0	T	5908715	C	T	5908715	3	4	98	1	0	0	0	0	1	0	0	0	696	768	27	1	2063	1	ANO2	12	5908715	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08		5908715	127943180	93	18877											
CD163L1	283316	broad.mit.edu	37	chr12	7527960	7527960	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagttatccagaagtgacTcattccctaagcaatgaaac	15	9	7	10	0	1	3	1	2	0	1	3	4	3	3	2	0	2	2	2	0	5	3			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:7527960T>A	ENST00000313599.3	-	11	2975	c.2918A>T	c.(2917-2919)gAg>gTg	p.E973V	CD163L1_ENST00000416109.2_Missense_Mutation_p.E983V|CD163L1_ENST00000396630.1_Missense_Mutation_p.E973V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	973	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGAAGTGACTCATTCCCTAA	0.458													10	45					0	0	0	0	A	7527960	T	A	7527960	3	1	98	1	0	0	0	0	1	0	0	0	2997	1551	54	5	1479	5	CD163L1	12	7527960	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	1619245	7527960	126323935	94	18878											
RACGAP1	29127	broad.mit.edu	37	chr12	50386143	50386143	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaacatccattttagtaTgtggactctgagccactcta	10	13	8	10	0	2	1	0	1	2	0	3	2	3	2	2	2	2	2	2	2	4	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:50386143T>G	ENST00000434422.1	-	15	1764	c.1463A>C	c.(1462-1464)cAt>cCt	p.H488P	RACGAP1_ENST00000547905.1_Missense_Mutation_p.H488P|RACGAP1_ENST00000454520.2_Missense_Mutation_p.H488P|RACGAP1_ENST00000551016.1_Missense_Mutation_p.H488P|RACGAP1_ENST00000427314.2_Missense_Mutation_p.H488P|RACGAP1_ENST00000312377.5_Missense_Mutation_p.H488P			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	488	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CATTTTAGTATGTGGACTCTG	0.393													8	46					0	0	0	0	G	50386143	T	G	50386143	3	3	98	1	0	0	0	0	1	0	0	0	13059	1464	51	5	451	5	RACGAP1	12	50386143	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	42858183	50386143	83465752	95	18879											
APAF1	317	broad.mit.edu	37	chr12	99065373	99065373	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatggacaccttcttggaCgacagccatttcctaatatt	12	13	6	10	1	1	0	0	0	1	0	2	3	2	2	3	2	1	0	3	2	4	7			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:99065373C>T	ENST00000357310.1	+	12	2246	c.1669C>T	c.(1669-1671)Cga>Tga	p.R557*	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Nonsense_Mutation_p.R557*|APAF1_ENST00000550527.1_Nonsense_Mutation_p.R546*|APAF1_ENST00000549007.1_Nonsense_Mutation_p.R557*|APAF1_ENST00000547045.1_Nonsense_Mutation_p.R557*|APAF1_ENST00000339433.3_Nonsense_Mutation_p.R557*|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Nonsense_Mutation_p.R546*	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	557					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CCTTCTTGGACGACAGCCATT	0.413													10	110					0	0	0	0	T	99065373	C	T	99065373	4	4	98	1	0	0	0	0	0	1	0	0	756	528	19	1	1711	1	APAF1	12	99065373	Nonsense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	48679230	99065373	34786522	96	18880											
ALDH1L2	160428	broad.mit.edu	37	chr12	105434423	105434423	+	Frame_Shift_Del	DEL	C	C	-																															tgatgaccccctttggaaagCctgctttcacagacagttct																										TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:105434423delC	ENST00000258494.9	-	16	2053	c.1913delG	c.(1912-1914)gcfs	p.G638fs	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	638	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTTTGGAAAGCCTGCTTTCAC	0.483													36	420	---	---	---	---					-	105434423	C	-	105434423	7	5	98	1	0	1	0	1	0	0	0	0	495	739	26	0	890	0	ALDH1L2	12	105434423	Frame_Shift_Del	DEL	C	TCGA-CN-6019-01A-11D-1683-08	6369050	105434423	28417472	97	18881											
MED13L	23389	broad.mit.edu	37	chr12	116445306	116445306	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtcaccatcttcaaaggtAtatgggtcattcacttctcc	10	14	6	11	0	6	0	4	0	2	0	7	0	6	0	2	2	0	1	2	2	3	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:116445306A>G	ENST00000281928.3	-	11	2354	c.2148T>C	c.(2146-2148)taT>taC	p.Y716Y		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	716					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTTCAAAGGTATATGGGTCAT	0.433													23	135					0	0	0	0	G	116445306	A	G	116445306	2	3	98	1	0	0	0	0	0	0	0	1	9500	456	16	5		5	MED13L	12	116445306	Silent	SNP	A	TCGA-CN-6019-01A-11D-1683-08	11010883	116445306	17406589	98	18882											
RPLP0	6175	broad.mit.edu	37	chr12	120634606	120634606	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccaaatcccatatcctcGtccgactcctccgactcttc	9	10	4	18	3	1	1	0	0	1	1	8	3	6	1	6	0	0	0	6	0	2	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:120634606G>A	ENST00000551150.1	-	7	1239	c.924C>T	c.(922-924)gaC>gaT	p.D308D	RPLP0_ENST00000313104.5_Silent_p.D246D|RPLP0_ENST00000228306.4_Silent_p.D308D|RPLP0_ENST00000546989.1_Silent_p.D272D|RPLP0_ENST00000552292.1_Silent_p.D98D|RPLP0_ENST00000392514.4_Silent_p.D308D			P05388	RLA0_HUMAN	ribosomal protein, large, P0	308					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCATATCCTCGTCCGACTCCT	0.488													10	50					0	0	0	0	A	120634606	G	A	120634606	2	1	98	1	0	0	0	0	0	0	0	1	13689	1136	40	1		1	RPLP0	12	120634606	Silent	SNP	G	TCGA-CN-6019-01A-11D-1683-08	4189300	120634606	13217289	99	18883											
DNAH10	196385	broad.mit.edu	37	chr12	124341683	124341683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctcttttccttggtttGatttcggatctgtttcctgg	2	21	9	9	1	2	1	0	1	2	0	6	2	5	2	3	3	0	3	3	3	0	7			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:124341683G>T	ENST00000409039.3	+	36	6190	c.6165G>T	c.(6163-6165)ttG>ttT	p.L2055F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2055					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCTTGGTTTGATTTCGGATC	0.532													6	54					0.00307968	0.00334215	1	0	T	124341683	G	T	124341683	3	4	98	1	0	0	0	0	1	0	0	0	4635	1281	45	2	6307	2	DNAH10	12	124341683	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	3707077	124341683	9510212	100	18884											
LATS2	26524	broad.mit.edu	37	chr13	21562740	21562740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaggccggaaggccacGtgcgcgcgcggcggcgcctc	5	3	17	16	8	1	0	1	0	0	0	2	1	1	1	3	5	1	0	3	5	1	0			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr13:21562740G>A	ENST00000382592.4	-	4	1584	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	LATS2_ENST00000542899.1_Silent_p.H393H	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	393					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGAAGGCCACGTGCGCGCGCG	0.736													3	7					0	0	0	0	A	21562740	G	A	21562740	2	1	98	1	0	0	0	0	0	0	0	1	8700	1136	40	1		1	LATS2	13	21562740	Silent	SNP	G	TCGA-CN-6019-01A-11D-1683-08		21562740	93607138	101	18885											
NEK5	341676	broad.mit.edu	37	chr13	52682493	52682493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tattctgacagatctctgggGacaggtagtaaggtgttcca	10	12	12	7	0	2	2	0	1	2	1	4	3	3	3	1	4	0	3	1	4	3	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr13:52682493G>T	ENST00000355568.4	-	8	654	c.515C>A	c.(514-516)tCc>tAc	p.S172Y		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	172	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GATCTCTGGGGACAGGTAGTA	0.338													24	53					1.5548e-18	2.10615e-18	1	0	T	52682493	G	T	52682493	3	4	98	1	0	0	0	0	1	0	0	0	10397	1174	41	2	1671	2	NEK5	13	52682493	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	31119753	52682493	62487385	102	18886											
ZNF219	51222	broad.mit.edu	37	chr14	21561411	21561411	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcgaaagccggcggcgaCggcgctaagtggccgctcgg	6	4	17	14	9	0	0	0	0	0	0	2	2	0	0	3	5	1	2	3	5	2	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr14:21561411C>A	ENST00000360947.3	-	3	456	c.45G>T	c.(43-45)ccG>ccT	p.P15P	ZNF219_ENST00000451119.2_Silent_p.P15P|ZNF219_ENST00000421093.2_Silent_p.P15P	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	15					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CCGGCGGCGACGGCGCTAAGT	0.657											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	16					0.0293803	0.0298492	1	0	A	21561411	C	A	21561411	2	1	98	1	0	0	0	0	0	0	0	1	17868	523	19	3		3	ZNF219	14	21561411	Silent	SNP	C	TCGA-CN-6019-01A-11D-1683-08		21561411	85788129	103	18887											
FOXG1	2290	broad.mit.edu	37	chr14	29237527	29237527	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctccgtgttgactcagAactcgctgggcaacaaccac	11	7	9	14	2	1	2	1	1	0	1	3	2	2	2	2	1	4	4	2	1	3	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr14:29237527A>C	ENST00000382535.3	+	2	1411	c.1042A>C	c.(1042-1044)Aac>Cac	p.N348H	FOXG1_ENST00000313071.4_Missense_Mutation_p.N348H			P55316	FOXG1_HUMAN	forkhead box G1	348					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GTTGACTCAGAACTCGCTGGG	0.657													18	117					0	0	0	0	C	29237527	A	C	29237527	3	2	98	1	0	0	0	0	1	0	0	0	6054	246	9	5	1044	5	FOXG1	14	29237527	Missense_Mutation	SNP	A	TCGA-CN-6019-01A-11D-1683-08	7676116	29237527	78112013	104	18888											
ARHGAP5	394	broad.mit.edu	37	chr14	32586346	32586346	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaatatgttttcttatagCagaaaaagaaaactaagaac	20	12	5	4	0	1	3	0	0	1	3	1	3	1	3	0	0	3	2	0	0	11	7			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr14:32586346C>T	ENST00000345122.3	+	3	4033	c.3717_splice	c.e3-1	p.Q1240_splice	ARHGAP5_ENST00000432921.1_Intron|ARHGAP5_ENST00000556611.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Splice_Site_p.Q1240_splice	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1240	Lys-rich.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTTCTTATAGCAGAAAAAGAA	0.323													9	38					0	0	0	0	T	32586346	C	T	32586346	5	4	98	1	0	0	0	0	0	0	1	0	888	724	25	4	3724	4	ARHGAP5	14	32586346	Splice_Site	SNP	C	TCGA-CN-6019-01A-11D-1683-08	3348819	32586346	74763194	105	18889											
FERMT2	10979	broad.mit.edu	37	chr14	53345312	53345312	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactacctgcagggctgcAaacatcatcatttcttcttc	10	13	5	13	0	5	0	3	0	2	0	6	0	5	0	1	1	5	3	1	1	3	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr14:53345312A>G	ENST00000395631.2	-	7	1167	c.951T>C	c.(949-951)ttT>ttC	p.F317F	FERMT2_ENST00000341590.3_Silent_p.F317F|FERMT2_ENST00000399304.3_Silent_p.F317F|FERMT2_ENST00000343279.4_Silent_p.F317F|FERMT2_ENST00000553373.1_Silent_p.F317F			Q96AC1	FERM2_HUMAN	fermitin family member 2	317	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GCAGGGCTGCAAACATCATCA	0.413													26	80					0	0	0	0	G	53345312	A	G	53345312	2	3	98	1	0	0	0	0	0	0	0	1	5863	127	5	5		5	FERMT2	14	53345312	Silent	SNP	A	TCGA-CN-6019-01A-11D-1683-08	20758966	53345312	54004228	106	18890											
RPAP1	26015	broad.mit.edu	37	chr15	41819777	41819777	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacgtcaaagctccatggtaCcaagagaaggtgctgtcgag	13	7	12	9	2	1	1	1	0	0	1	3	3	2	1	2	2	4	3	2	2	5	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:41819777C>T	ENST00000304330.4	-	12	1571	c.1455G>A	c.(1453-1455)tgG>tgA	p.W485*	RPAP1_ENST00000561603.1_Nonsense_Mutation_p.W485*	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	485						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTCCATGGTACCAAGAGAAGG	0.552													3	19					0	0	0	0	T	41819777	C	T	41819777	4	4	98	1	0	0	0	0	0	1	0	0	13626	508	18	4	2782	4	RPAP1	15	41819777	Nonsense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08		41819777	60711615	107	18891											
SPG11	80208	broad.mit.edu	37	chr15	44900683	44900683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatatcagatggcaggacacTaggaggagtgcactgtggga	13	7	15	6	0	1	1	1	0	0	1	1	5	1	5	0	5	1	2	0	5	3	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:44900683T>C	ENST00000261866.7	-	19	3428	c.3412A>G	c.(3412-3414)Agt>Ggt	p.S1138G	SPG11_ENST00000427534.2_Missense_Mutation_p.S1138G|SPG11_ENST00000558319.1_Missense_Mutation_p.S1138G|SPG11_ENST00000535302.2_Missense_Mutation_p.S1138G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1138					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGCAGGACACTAGGAGGAGTG	0.423													12	54					0	0	0	0	C	44900683	T	C	44900683	3	2	98	1	0	0	0	0	1	0	0	0	15131	1522	53	5	4007	5	SPG11	15	44900683	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	3080906	44900683	57630709	108	18892											
GLDN	342035	broad.mit.edu	37	chr15	51696913	51696913	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatggccatttaatgcttTatcctgtgcagtttttgtca	9	17	8	7	0	1	1	1	0	0	1	2	1	2	1	2	1	2	3	2	1	3	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:51696913T>C	ENST00000335449.6	+	10	1674	c.1618T>C	c.(1618-1620)Tat>Cat	p.Y540H	GLDN_ENST00000396399.2_Missense_Mutation_p.Y416H	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	540	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TTTAATGCTTTATCCTGTGCA	0.413													19	99					0	0	0	0	C	51696913	T	C	51696913	3	2	98	1	0	0	0	0	1	0	0	0	6485	1754	61	5	1656	5	GLDN	15	51696913	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	6796230	51696913	50834479	109	18893											
WDR72	256764	broad.mit.edu	37	chr15	53889325	53889325	+	Frame_Shift_Del	DEL	C	C	-																															tgtaactctagttcttctgtCcattccagctttggcagcat																										TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:53889325delC	ENST00000396328.1	-	18	3338	c.3099delG	c.(3097-3099)tgfs	p.W1033fs	WDR72_ENST00000559418.1_Frame_Shift_Del_p.W1043fs|WDR72_ENST00000360509.5_Frame_Shift_Del_p.W1033fs|WDR72_ENST00000557913.1_Frame_Shift_Del_p.W1030fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1033										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTCTTCTGTCCATTCCAGCT	0.393													40	231	---	---	---	---					-	53889325	C	-	53889325	7	5	98	1	0	1	0	1	0	0	0	0	17418	856	30	0	221	0	WDR72	15	53889325	Frame_Shift_Del	DEL	C	TCGA-CN-6019-01A-11D-1683-08	2192412	53889325	48642067	110	18894											
RASGRF1	5923	broad.mit.edu	37	chr15	79350798	79350798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatttctgcattaatgcctCatgctctgtggcgagggtcc	6	14	11	10	1	3	0	1	0	2	0	4	1	4	0	2	2	3	3	2	2	2	3	rs150686548		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:79350798C>T	ENST00000419573.3	-	3	683	c.409G>A	c.(409-411)Gag>Aag	p.E137K	RASGRF1_ENST00000558480.2_Missense_Mutation_p.E137K|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	137					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATTAATGCCTCATGCTCTGTG	0.572													5	45					0	0	0	0	T	79350798	C	T	79350798	3	4	98	1	0	0	0	0	1	0	0	0	13154	835	29	2	3516	2	RASGRF1	15	79350798	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	25461473	79350798	23180594	111	18895											
CLDN6	9074	broad.mit.edu	37	chr16	3065430	3065430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcagatgttgagtagcggGccatgtaatggctggggccc	7	8	18	8	1	0	2	0	1	0	1	0	2	0	2	2	5	1	5	2	5	2	3			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr16:3065430G>A	ENST00000396925.1	-	3	1021	c.593C>T	c.(592-594)gCc>gTc	p.A198V	CLDN6_ENST00000328796.4_Missense_Mutation_p.A198V|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	198					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGAGTAGCGGGCCATGTAATG	0.652													13	60					0	0	0	0	A	3065430	G	A	3065430	3	1	98	1	0	0	0	0	1	0	0	0	3519	1203	42	4	73	4	CLDN6	16	3065430	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08		3065430	87289323	112	18896											
TEKT5	146279	broad.mit.edu	37	chr16	10788235	10788235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgtctccaagttctggtTctcagtcagaagcctgtcca	8	11	9	13	1	4	1	2	0	3	1	7	2	5	1	4	1	1	2	4	1	2	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr16:10788235T>C	ENST00000283025.2	-	1	567	c.496A>G	c.(496-498)Aac>Gac	p.N166D		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	166					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AAGTTCTGGTTCTCAGTCAGA	0.607													49	249					0	0	0	0	C	10788235	T	C	10788235	3	2	98	1	0	0	0	0	1	0	0	0	15850	1783	62	5	989	5	TEKT5	16	10788235	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	7722805	10788235	79566518	113	18897											
ZNF646	9726	broad.mit.edu	37	chr16	31087784	31087784	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggctgacagcatccctcggCcctaccgttgtcagcagtgt	7	9	11	14	2	1	1	1	1	0	0	3	1	2	1	3	2	3	4	3	2	1	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr16:31087784C>G	ENST00000394979.2	+	1	562	c.139C>G	c.(139-141)Ccc>Gcc	p.P47A	ZNF646_ENST00000300850.5_Missense_Mutation_p.P47A			O15015	ZN646_HUMAN	zinc finger protein 646	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CATCCCTCGGCCCTACCGTTG	0.632													13	81					0	0	0	0	G	31087784	C	G	31087784	3	3	98	1	0	0	0	0	1	0	0	0	18157	739	26	4	141	4	ZNF646	16	31087784	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	20299549	31087784	59266969	114	18898											
ZNF646	9726	broad.mit.edu	37	chr16	31087829	31087829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctaccgtcaccccgggAgcctggttaaccatcgtcgg	6	7	14	14	4	1	0	1	0	0	0	3	1	1	1	5	5	3	2	5	5	2	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr16:31087829A>G	ENST00000394979.2	+	1	607	c.184A>G	c.(184-186)Agc>Ggc	p.S62G	ZNF646_ENST00000300850.5_Missense_Mutation_p.S62G			O15015	ZN646_HUMAN	zinc finger protein 646	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TCACCCCGGGAGCCTGGTTAA	0.602													13	61					0	0	0	0	G	31087829	A	G	31087829	3	3	98	1	0	0	0	0	1	0	0	0	18157	304	11	5	186	5	ZNF646	16	31087829	Missense_Mutation	SNP	A	TCGA-CN-6019-01A-11D-1683-08	45	31087829	59266924	115	18899											
NUP88	4927	broad.mit.edu	37	chr17	5290432	5290432	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaagtagttttttcatccTttagaaaaggcaagcaaaca	15	12	8	6	0	1	2	1	1	0	1	2	2	2	2	1	1	2	4	1	1	7	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:5290432T>C	ENST00000573584.1	-	15	2426		c.e15-2			NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TTTTTCATCCTTTAGAAAAGG	0.373													11	29					0	0	0	0	C	5290432	T	C	5290432	5	2	98	1	0	0	0	0	0	0	1	0	10842	1623	56	5	322	5	NUP88	17	5290432	Splice_Site	SNP	T	TCGA-CN-6019-01A-11D-1683-08		5290432	75904778	116	18900											
CHRNB1	1140	broad.mit.edu	37	chr17	7350422	7350422	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtcctccgacggctcCgtgcgttggcaacccccggg	3	8	15	15	5	0	0	0	0	0	0	3	1	3	0	5	4	2	3	5	4	1	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:7350422C>T	ENST00000306071.2	+	5	481	c.414C>T	c.(412-414)tcC>tcT	p.S138S	CHRNB1_ENST00000576360.1_Silent_p.S66S|CHRNB1_ENST00000536404.2_Silent_p.S66S	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	138					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				CCGACGGCTCCGTGCGTTGGC	0.582													9	37					0	0	0	0	T	7350422	C	T	7350422	2	4	98	1	0	0	0	0	0	0	0	1	3419	639	23	1		1	CHRNB1	17	7350422	Silent	SNP	C	TCGA-CN-6019-01A-11D-1683-08	2059990	7350422	73844788	117	18901											
TP53	7157	broad.mit.edu	37	chr17	7574034	7574034	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgctcacgcccacggatCtgcagcaacagaggaggggg	11	3	15	12	3	2	1	1	0	1	1	2	3	2	3	1	4	4	3	1	4	2	0			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:7574034C>A	ENST00000420246.2	-	11	1259		c.e11-1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(9)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCACGGATCTGCAGCAACA	0.512		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	15					0.000602214	0.000668738	1	0	A	7574034	C	A	7574034	5	1	98	1	0	0	0	0	0	0	1	0	16476	927	32	2	196	2	TP53	17	7574034	Splice_Site	SNP	C	TCGA-CN-6019-01A-11D-1683-08	223612	7574034	73621176	118	18902											
MYH2	4620	broad.mit.edu	37	chr17	10432731	10432731	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaacttcaagtcacccTcaagtttcctcttagccctt	8	12	6	15	0	4	0	3	0	1	0	5	0	5	0	4	1	2	1	4	1	4	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:10432731T>A	ENST00000245503.5	-	25	3569	c.3185A>T	c.(3184-3186)gAg>gTg	p.E1062V	MYH2_ENST00000397183.2_Missense_Mutation_p.E1062V|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1062					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAAGTCACCCTCAAGTTTCCT	0.373													8	62					0	0	0	0	A	10432731	T	A	10432731	3	1	98	1	0	0	0	0	1	0	0	0	10105	1551	54	5	2704	5	MYH2	17	10432731	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	2858697	10432731	70762479	119	18903											
NF1	4763	broad.mit.edu	37	chr17	29548868	29548868	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcttttttaaaaaattcagGctctgctggttcttcatcag	9	17	6	9	0	6	0	3	0	3	0	6	0	6	0	0	2	1	3	0	2	3	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:29548868G>T	ENST00000358273.4	+	15	2025	c.1641_splice	c.e15-1	p.A548_splice	NF1_ENST00000431387.4_Splice_Site_p.A548_splice|NF1_ENST00000356175.3_Splice_Site_p.A548_splice	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	548					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAAATTCAGGCTCTGCTGGT	0.313			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	40					0.00909568	0.00954547	1	0	T	29548868	G	T	29548868	5	4	98	1	0	0	0	0	0	0	1	0	10426	1217	42	4	1700	4	NF1	17	29548868	Splice_Site	SNP	G	TCGA-CN-6019-01A-11D-1683-08	19116137	29548868	51646342	120	18904											
WNK4	65266	broad.mit.edu	37	chr17	40940808	40940808	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcccggaagagattgcagCtgccatggtgagggggagag	10	5	18	8	1	0	3	0	1	0	2	0	6	0	4	2	4	4	2	2	4	1	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:40940808C>A	ENST00000246914.5	+	11	2171	c.2150C>A	c.(2149-2151)gCt>gAt	p.A717D		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	717					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GAGATTGCAGCTGCCATGGTG	0.537													11	51					0.000151284	0.000173026	1	0	A	40940808	C	A	40940808	3	1	98	1	0	0	0	0	1	0	0	0	17476	797	28	4	2192	4	WNK4	17	40940808	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	11391940	40940808	40254402	121	18905											
MYCBPAP	84073	broad.mit.edu	37	chr17	48602250	48602250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcagagcaagctgactGcccatgaggcagtcaccgtc	9	9	11	12	1	1	3	1	2	0	1	2	3	1	3	2	1	4	4	2	1	1	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:48602250G>T	ENST00000323776.5	+	13	1939	c.1777G>T	c.(1777-1779)Gcc>Tcc	p.A593S	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.A556S	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	556					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAAGCTGACTGCCCATGAGGC	0.582													19	80					5.03518e-11	6.41147e-11	1	0	T	48602250	G	T	48602250	3	4	98	1	0	0	0	0	1	0	0	0	10089	1319	46	4	1827	4	MYCBPAP	17	48602250	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	7661442	48602250	32592960	122	18906											
ABCA6	23460	broad.mit.edu	37	chr17	67094145	67094145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaaggaaccatccggcaaCccagtccagagtcctatgtg	14	6	9	12	1	0	1	0	0	0	1	3	2	3	2	5	2	2	1	5	2	5	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:67094145C>T	ENST00000284425.2	-	23	3210	c.3036G>A	c.(3034-3036)ggG>ggA	p.G1012G	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1012					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CATCCGGCAACCCAGTCCAGA	0.368													6	27					0	0	0	0	T	67094145	C	T	67094145	2	4	98	1	0	0	0	0	0	0	0	1	36	494	18	4		4	ABCA6	17	67094145	Silent	SNP	C	TCGA-CN-6019-01A-11D-1683-08	18491895	67094145	14101065	123	18907											
ABCA6	23460	broad.mit.edu	37	chr17	67111520	67111520	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttctttttactcaccttCtgttggaacagacaatccat	11	16	4	10	0	3	1	1	0	2	1	4	2	4	2	2	1	2	1	2	1	4	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:67111520C>A	ENST00000284425.2	-	12	1777	c.1603G>T	c.(1603-1605)Gaa>Taa	p.E535*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	535	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TACTCACCTTCTGTTGGAACA	0.358													16	85					1.02788e-11	1.32653e-11	1	0	A	67111520	C	A	67111520	4	1	98	1	0	0	0	0	0	1	0	0	36	922	32	2	3362	2	ABCA6	17	67111520	Nonsense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	17375	67111520	14083690	124	18908											
ACOX1	51	broad.mit.edu	37	chr17	73956445	73956445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagaggctcaggccgccctCggtgcacaaaacttcgagga	10	5	12	14	3	1	1	1	0	0	1	3	3	1	2	3	4	2	2	3	4	2	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:73956445C>T	ENST00000537812.1	-	3	815	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	ACOX1_ENST00000301608.4_Intron|ACOX1_ENST00000293217.5_Missense_Mutation_p.R94Q|ACOX1_ENST00000591857.1_5'UTR	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	94					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						AGGCCGCCCTCGGTGCACAAA	0.532													5	20					0	0	0	0	T	73956445	C	T	73956445	3	4	98	1	0	0	0	0	1	0	0	0	158	884	31	1	1749	1	ACOX1	17	73956445	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	6844925	73956445	7238765	125	18909											
DNAH17	8632	broad.mit.edu	37	chr17	76540009	76540009	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgttgaggttggcaattCttccatccaagtctaacagg	9	13	10	9	0	2	1	0	1	2	0	4	1	4	1	2	3	1	4	2	3	3	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:76540009C>A	ENST00000389840.5	-	17	2586	c.2462G>T	c.(2461-2463)aGa>aTa	p.R821I	DNAH17_ENST00000585328.1_Missense_Mutation_p.R821I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTTGGCAATTCTTCCATCCAA	0.498													29	175					6.38683e-12	8.29854e-12	1	0	A	76540009	C	A	76540009	3	1	98	1	0	0	0	0	1	0	0	0	4638	913	32	2	11186	2	DNAH17	17	76540009	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	2583564	76540009	4655201	126	18910											
RNF213	57674	broad.mit.edu	37	chr17	78318661	78318661	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatttaagacgattcaatCaaaaccaagacctagacacg	18	8	6	9	2	2	3	2	0	0	3	2	4	2	3	2	0	1	1	2	0	7	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:78318661C>A	ENST00000582970.1	+	29	6669	c.6526C>A	c.(6526-6528)Caa>Aaa	p.Q2176K	RNF213_ENST00000336301.6_Missense_Mutation_p.Q249K|RNF213_ENST00000508628.2_Missense_Mutation_p.Q2225K	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	1113										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGATTCAATCAAAACCAAGA	0.493													16	53					6.94344e-10	8.72498e-10	1	0	A	78318661	C	A	78318661	3	1	98	1	0	0	0	0	1	0	0	0	13562	827	29	2	6955	2	RNF213	17	78318661	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	1778652	78318661	2876549	127	18911											
EPB41L3	23136	broad.mit.edu	37	chr18	5419778	5419778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccgtttgtcctcttcctCgtcccgctcctcctcagcct	1	14	5	21	3	2	0	1	0	1	0	9	0	8	0	8	0	1	2	8	0	0	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr18:5419778C>T	ENST00000341928.2	-	12	1778	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E498K|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E480K|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E498K|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E498K	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	480	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						tcctcttcctcgtcccgctcc	0.572													9	46					0	0	0	0	T	5419778	C	T	5419778	3	4	98	1	0	0	0	0	1	0	0	0	5192	893	31	1	1869	1	EPB41L3	18	5419778	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08		5419778	72657470	128	18912											
ATP9B	374868	broad.mit.edu	37	chr18	76873335	76873335	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgaaaataggctatctctAcacctactgggctcctctgg	10	12	8	11	0	2	1	0	1	2	0	4	1	3	1	2	3	2	2	2	3	6	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr18:76873335A>G	ENST00000426216.2	+	4	556	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	ATP9B_ENST00000458297.2_Missense_Mutation_p.Y128C|ATP9B_ENST00000591464.1_Intron|ATP9B_ENST00000586722.1_Missense_Mutation_p.Y180C|ATP9B_ENST00000307671.7_Missense_Mutation_p.Y180C	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	180					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GGCTATCTCTACACCTACTGG	0.289													6	39					0	0	0	0	G	76873335	A	G	76873335	3	3	98	1	0	0	0	0	1	0	0	0	1203	391	14	5	553	5	ATP9B	18	76873335	Missense_Mutation	SNP	A	TCGA-CN-6019-01A-11D-1683-08	71453557	76873335	1203913	129	18913											
RPL36	25873	broad.mit.edu	37	chr19	5691434	5691434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgaaggtctccaaggaCaaacgggccctcaaatttat	13	10	8	10	1	2	1	1	1	1	0	3	2	2	2	2	3	2	0	2	3	6	3			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:5691434C>A	ENST00000577222.1	+	5	742	c.198C>A	c.(196-198)gaC>gaA	p.D66E	RPL36_ENST00000347512.3_Missense_Mutation_p.D66E|RPL36_ENST00000579649.1_Missense_Mutation_p.D66E|RPL36_ENST00000579446.1_Missense_Mutation_p.D66E|RPL36_ENST00000394580.2_Missense_Mutation_p.D66E			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	66					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome			breast(1)|upper_aerodigestive_tract(1)	2						TCTCCAAGGACAAACGGGCCC	0.627											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	77					0.00185496	0.00203619	1	0	A	5691434	C	A	5691434	3	1	98	1	0	0	0	0	1	0	0	0	13671	477	17	4	204	4	RPL36	19	5691434	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08		5691434	53437549	130	18914											
TMEM205	374882	broad.mit.edu	37	chr19	11456289	11456289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcctcctaggttcccgccttCctccatcttgcagtcctggg	3	12	9	17	1	1	0	0	0	1	0	6	0	6	0	7	2	1	2	7	2	1	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:11456289C>T	ENST00000354882.5	-	1	433	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	TMEM205_ENST00000586218.1_Intron|TMEM205_ENST00000447337.1_Missense_Mutation_p.E3K|TMEM205_ENST00000586590.1_Missense_Mutation_p.E3K|RAB3D_ENST00000589655.1_Intron|CCDC159_ENST00000587100.1_Intron|TMEM205_ENST00000589555.1_Missense_Mutation_p.E3K|CCDC159_ENST00000588790.1_Intron|TMEM205_ENST00000593256.2_Missense_Mutation_p.E3K|TMEM205_ENST00000587948.1_Missense_Mutation_p.E3K|TMEM205_ENST00000586956.1_Missense_Mutation_p.E3K|TMEM205_ENST00000588560.1_Missense_Mutation_p.E3K			Q6UW68	TM205_HUMAN	transmembrane protein 205	3						integral to membrane				endometrium(1)|lung(1)	2						TTCCCGCCTTCCTCCATCTTG	0.587													3	31					0	0	0	0	T	11456289	C	T	11456289	3	4	98	1	0	0	0	0	1	0	0	0	16224	864	30	2	574	2	TMEM205	19	11456289	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	5764855	11456289	47672694	131	18915											
ZNF136	7695	broad.mit.edu	37	chr19	12297983	12297983	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggaaaccctttcattctCtgagttcatttcaagtgcat	9	15	8	9	0	4	1	3	1	1	0	5	2	4	2	1	1	2	2	1	1	2	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:12297983C>T	ENST00000343979.4	+	4	930	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L	ZNF136_ENST00000398616.2_Silent_p.L198L	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	264					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CTTTCATTCTCTGAGTTCATT	0.388													24	47					0	0	0	0	T	12297983	C	T	12297983	2	4	98	1	0	0	0	0	0	0	0	1	17821	912	32	2		2	ZNF136	19	12297983	Silent	SNP	C	TCGA-CN-6019-01A-11D-1683-08	841694	12297983	46831000	132	18916											
UPF1	5976	broad.mit.edu	37	chr19	18966828	18966828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcgtgcgcctctgcgccAagagccgtgaggccatcgac	7	6	14	14	5	1	2	0	1	1	1	3	3	1	2	4	2	3	0	4	2	1	0			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:18966828A>G	ENST00000262803.5	+	12	1911	c.1639A>G	c.(1639-1641)Aag>Gag	p.K547E	UPF1_ENST00000599848.1_Missense_Mutation_p.K558E	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	558					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCTCTGCGCCAAGAGCCGTGA	0.612													5	18					0	0	0	0	G	18966828	A	G	18966828	3	3	98	1	0	0	0	0	1	0	0	0	17099	131	5	5	1685	5	UPF1	19	18966828	Missense_Mutation	SNP	A	TCGA-CN-6019-01A-11D-1683-08	6668845	18966828	40162155	133	18917											
NCAN	1463	broad.mit.edu	37	chr19	19338426	19338426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggtgaggccaccgccaCggctccaccctcccctgctg	6	6	10	19	2	0	1	0	1	0	0	2	1	2	1	7	3	1	2	7	3	0	0	rs111534277	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:19338426C>T	ENST00000252575.5	+	8	2040	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M	NCAN_ENST00000538881.1_Missense_Mutation_p.T117M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	666					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GCCACCGCCACGGCTCCACCC	0.612													20	108					0	0	0	0	T	19338426	C	T	19338426	3	4	98	1	0	0	0	0	1	0	0	0	10274	536	19	1	2023	1	NCAN	19	19338426	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	371598	19338426	39790557	134	18918											
ZNF91	7644	broad.mit.edu	37	chr19	23544891	23544891	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagctttgccacattctTcacatttgtagggtttctct	9	17	6	9	0	3	0	1	0	2	0	4	0	3	0	1	1	2	3	1	1	3	7			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:23544891T>A	ENST00000300619.7	-	4	1095	c.890A>T	c.(889-891)gAa>gTa	p.E297V	ZNF91_ENST00000397082.2_Missense_Mutation_p.E265V|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	297						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GCCACATTCTTCACATTTGTA	0.393													18	86					0	0	0	0	A	23544891	T	A	23544891	3	1	98	1	0	0	0	0	1	0	0	0	18293	1783	62	5	2689	5	ZNF91	19	23544891	Missense_Mutation	SNP	T	TCGA-CN-6019-01A-11D-1683-08	4206465	23544891	35584092	135	18919											
ZNF254	9534	broad.mit.edu	37	chr19	24309534	24309534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaaatgtgaagaatataaCaaatctcctaagcaactctc	18	10	4	9	0	2	2	0	1	2	1	4	2	2	2	1	0	4	1	1	0	9	4			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:24309534C>A	ENST00000357002.4	+	4	847	c.732C>A	c.(730-732)aaC>aaA	p.N244K	ZNF254_ENST00000342944.6_Missense_Mutation_p.N159K	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	244					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AAGAATATAACAAATCTCCTA	0.328													6	34					0.0215528	0.0221321	1	0	A	24309534	C	A	24309534	3	1	98	1	0	0	0	0	1	0	0	0	17893	477	17	4	746	4	ZNF254	19	24309534	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	764643	24309534	34819449	136	18920											
ATP4A	495	broad.mit.edu	37	chr19	36051747	36051747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaggttcttaaagctggCgatgatgttggtgctcttga	9	13	12	7	1	2	2	0	2	2	0	2	3	2	2	0	3	2	4	0	3	3	4	rs148572774	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:36051747C>T	ENST00000262623.3	-	5	536	c.508G>A	c.(508-510)Gcc>Acc	p.A170T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	170					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TTAAAGCTGGCGATGATGTTG	0.562													13	95					0	0	0	0	T	36051747	C	T	36051747	3	4	98	1	0	0	0	0	1	0	0	0	1149	768	27	1	2671	1	ATP4A	19	36051747	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	11742213	36051747	23077236	137	18921											
IRGC	56269	broad.mit.edu	37	chr19	44222644	44222644	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctcccttctcctctgcaGgcgctgaggatcacgcatcc	5	10	10	16	2	3	1	1	1	2	0	6	2	5	2	3	3	1	4	3	3	0	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:44222644G>A	ENST00000244314.5	+	2	133		c.e2-1			NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema							membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTCCTCTGCAGGCGCTGAGGA	0.627													20	64					0	0	0	0	A	44222644	G	A	44222644	5	1	98	1	0	0	0	0	0	0	1	0	7891	1014	35	4		4	IRGC	19	44222644	Splice_Site	SNP	G	TCGA-CN-6019-01A-11D-1683-08	8170897	44222644	14906339	138	18922											
BCL3	602	broad.mit.edu	37	chr19	45262845	45262845	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccctggccggccggtgccCccctccccagctccaggagg	3	4	14	20	2	0	0	0	0	0	0	2	1	2	1	9	6	2	1	9	6	0	0			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:45262845C>A	ENST00000164227.5	+	9	1582	c.1338C>A	c.(1336-1338)ccC>ccA	p.P446P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	446	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				GGCCGGTGCCCCCCTCCCCAG	0.667			T	IGH@	CLL								19	60					2.94398e-08	3.6513e-08	1	0	A	45262845	C	A	45262845	2	1	98	1	0	0	0	0	0	0	0	1	1379	610	22	4		4	BCL3	19	45262845	Silent	SNP	C	TCGA-CN-6019-01A-11D-1683-08	1040201	45262845	13866138	139	18923											
ZNF415	55786	broad.mit.edu	37	chr19	53611805	53611805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatttgccacactcattaCatttgtaaggtttttctcca	10	16	6	9	0	2	0	1	0	1	0	3	1	2	1	2	2	2	2	2	2	2	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:53611805C>A	ENST00000455735.2	-	7	1957	c.1637G>T	c.(1636-1638)tGt>tTt	p.C546F	ZNF415_ENST00000421033.1_Missense_Mutation_p.C510F|ZNF415_ENST00000601493.1_Missense_Mutation_p.C268F|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.C485F|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.C498F|ZNF415_ENST00000500065.4_Missense_Mutation_p.C498F|ZNF415_ENST00000448501.1_Missense_Mutation_p.C546F|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		ACACTCATTACATTTGTAAGG	0.413													25	161					4.87955e-14	6.42755e-14	1	0	A	53611805	C	A	53611805	3	1	98	1	0	0	0	0	1	0	0	0	17987	478	17	4	178	4	ZNF415	19	53611805	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	8348960	53611805	5517178	140	18924											
LILRA1	11024	broad.mit.edu	37	chr19	55106221	55106221	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgtcaggggatcctggaGacccaggagtaccgtctgta	8	9	15	9	1	2	1	1	0	1	1	3	4	3	3	3	5	1	2	3	5	2	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:55106221G>A	ENST00000453777.1	+	4	332	c.162G>A	c.(160-162)gaG>gaA	p.E54E	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Silent_p.E54E	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	54	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGATCCTGGAGACCCAGGAGT	0.582													15	85					0	0	0	0	A	55106221	G	A	55106221	2	1	98	1	0	0	0	0	0	0	0	1	8838	933	33	2		2	LILRA1	19	55106221	Silent	SNP	G	TCGA-CN-6019-01A-11D-1683-08	1494416	55106221	4022762	141	18925											
ZNF132	7691	broad.mit.edu	37	chr19	58945525	58945526	+	Frame_Shift_Ins	INS	-	-	T																															ttcactgcattcatacggtcINStttctccagtgtgaactctc																										TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:58945525_58945526insT	ENST00000254166.3	-	3	1685_1686	c.1285_1286insA	c.(1285-1287)accfs	p.T429fs		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	429						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTCATACGGTCTTTCTCCAGTG	0.465													9	95	---	---	---	---					T	58945526	-	T	58945525	7	5	98	1	0	1	1	0	0	0	0	0	17817	913	32	0	838	0	ZNF132	19	58945525	Frame_Shift_Ins	INS	-	TCGA-CN-6019-01A-11D-1683-08	3839304	58945525	183458	142	18926											
MACROD2	140733	broad.mit.edu	37	chr20	15210612	15210612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatactgtagggccaataGccaggggccatattaatggt	11	10	11	9	0	0	0	0	0	0	0	1	0	1	0	4	4	2	1	4	4	6	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr20:15210612G>T	ENST00000217246.4	+	6	840	c.445G>T	c.(445-447)Gcc>Tcc	p.A149S	MACROD2_ENST00000310348.4_Missense_Mutation_p.A149S|MACROD2_ENST00000402914.1_5'UTR	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	149	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGGGCCAATAGCCAGGGGCCA	0.358													5	31					2.7689e-08	3.4566e-08	1	0	T	15210612	G	T	15210612	3	4	98	1	0	0	0	0	1	0	0	0	9211	971	34	4	467	4	MACROD2	20	15210612	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08		15210612	47814908	143	18927											
C20orf26	26074	broad.mit.edu	37	chr20	20150070	20150070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acacctgcaccctcgagcagGacctctacgtcttccaccgg	8	7	8	18	3	2	0	0	0	2	0	4	2	3	1	5	2	3	2	5	2	1	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr20:20150070G>A	ENST00000245957.5	+	13	1427	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	C20orf26_ENST00000377306.1_Missense_Mutation_p.D451N|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.D451N|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	451										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCTCGAGCAGGACCTCTACGT	0.493													14	71					0	0	0	0	A	20150070	G	A	20150070	3	1	98	1	0	0	0	0	1	0	0	0	2126	1174	41	2	1397	2	C20orf26	20	20150070	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	4939458	20150070	42875450	144	18928											
DLGAP4	22839	broad.mit.edu	37	chr20	35060815	35060815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgatgacactaggccGccaggcagaacgcagccagc	10	4	14	13	2	0	3	0	2	0	1	0	3	0	3	3	3	3	3	3	3	2	1	rs141000110	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr20:35060815G>A	ENST00000373913.3	+	3	1175	c.695G>A	c.(694-696)cGc>cAc	p.R232H	DLGAP4_ENST00000373907.2_Missense_Mutation_p.R232H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R232H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R232H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	232					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACACTAGGCCGCCAGGCAGAA	0.597													9	85					0	0	0	0	A	35060815	G	A	35060815	3	1	98	1	0	0	0	0	1	0	0	0	4599	1087	38	1	697	1	DLGAP4	20	35060815	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	14910745	35060815	27964705	145	18929											
NCOA3	8202	broad.mit.edu	37	chr20	46254145	46254145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaaactatttccaatgatGatgatgttcaaaaagccgat	17	11	7	6	1	1	3	1	3	0	0	2	5	2	3	2	0	2	1	2	0	6	3			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr20:46254145G>A	ENST00000372004.3	+	5	493	c.277G>A	c.(277-279)Gat>Aat	p.D93N	NCOA3_ENST00000341724.6_Missense_Mutation_p.D93N|NCOA3_ENST00000371997.3_Missense_Mutation_p.D93N|NCOA3_ENST00000371998.3_Missense_Mutation_p.D93N	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	93					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTCCAATGATGATGATGTTCA	0.368													18	45					0	0	0	0	A	46254145	G	A	46254145	3	1	98	1	0	0	0	0	1	0	0	0	10300	1290	45	2	287	2	NCOA3	20	46254145	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	11193330	46254145	16771375	146	18930											
PHACTR3	116154	broad.mit.edu	37	chr20	58330263	58330263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagcaaaacttgcaaccccGatggaggaccccgatctgta	14	6	9	12	2	1	0	0	0	1	0	1	4	1	2	4	2	4	3	4	2	5	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr20:58330263G>A	ENST00000371015.1	+	4	852	c.385G>A	c.(385-387)Gat>Aat	p.D129N	PHACTR3_ENST00000395639.4_Missense_Mutation_p.D88N|PHACTR3_ENST00000395636.2_Missense_Mutation_p.D88N|PHACTR3_ENST00000359926.3_Missense_Mutation_p.D126N|PHACTR3_ENST00000361300.4_Missense_Mutation_p.D88N|PHACTR3_ENST00000355648.4_Missense_Mutation_p.D88N|PHACTR3_ENST00000541461.1_Missense_Mutation_p.D88N	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	129						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TTGCAACCCCGATGGAGGACC	0.567													9	30					0	0	0	0	A	58330263	G	A	58330263	3	1	98	1	0	0	0	0	1	0	0	0	11883	1058	37	1	399	1	PHACTR3	20	58330263	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	12076118	58330263	4695257	147	18931											
TPTE	7179	broad.mit.edu	37	chr21	10920139	10920139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggttttatctgttcgcCtttctccaaaataatacagg	9	16	8	8	1	2	0	0	0	2	0	4	0	2	0	2	2	1	2	2	2	5	6			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr21:10920139C>T	ENST00000298232.7	-	18	1428	c.1061G>A	c.(1060-1062)aGg>aAg	p.R354K	TPTE_ENST00000342420.5_Missense_Mutation_p.R334K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R372K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	372	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCTGTTCGCCTTTCTCCAAA	0.378													15	131					0	0	0	0	T	10920139	C	T	10920139	3	4	98	1	0	0	0	0	1	0	0	0	16525	681	24	4	564	4	TPTE	21	10920139	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08		10920139	37209756	148	18932											
TPTE	7179	broad.mit.edu	37	chr21	10944746	10944746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaatcacaataatggcaGtatctaaaatgttaaataag	20	10	7	4	0	2	1	1	0	1	1	2	2	2	1	0	1	0	3	0	1	10	5			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr21:10944746G>T	ENST00000298232.7	-	10	801	c.434C>A	c.(433-435)aCt>aAt	p.T145N	TPTE_ENST00000342420.5_Missense_Mutation_p.T125N|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.T163N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	163					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATAATGGCAGTATCTAAAAT	0.318													10	189					2.17888e-05	2.56892e-05	1	0	T	10944746	G	T	10944746	3	4	98	1	0	0	0	0	1	0	0	0	16525	1029	36	4	1223	4	TPTE	21	10944746	Missense_Mutation	SNP	G	TCGA-CN-6019-01A-11D-1683-08	24607	10944746	37185149	149	18933											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343													8	102					0	0	0	0	C	11058353	T	C	11058353	1	2	98	0	1	0	0	0	0	0	0	0	1296	1769	61	5		5	BAGE2	21	11058353	RNA	SNP	T	TCGA-CN-6019-01A-11D-1683-08	113607	11058353	37071542	150	18934											
NCAM2	4685	broad.mit.edu	37	chr21	22906914	22906914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagaggatgaaagagttaCtaatcacgaagatgggagcc	17	6	12	6	1	1	4	1	1	0	3	1	7	1	6	1	2	3	1	1	2	5	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr21:22906914C>A	ENST00000400546.1	+	17	2588	c.2339C>A	c.(2338-2340)aCt>aAt	p.T780N	NCAM2_ENST00000284894.7_Missense_Mutation_p.T638N	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	780					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GAAAGAGTTACTAATCACGAA	0.398													8	32					0.00448238	0.00483692	1	0	A	22906914	C	A	22906914	3	1	98	1	0	0	0	0	1	0	0	0	10273	565	20	4	2405	4	NCAM2	21	22906914	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	11848561	22906914	25222981	151	18935											
C2CD2	25966	broad.mit.edu	37	chr21	43332500	43332500	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcgtcagggtgctggagaaCctctgaacaggatcgttcag	9	10	13	9	2	3	2	2	1	1	1	5	4	3	3	1	3	3	2	1	3	2	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr21:43332500C>A	ENST00000380486.3	-	7	1135	c.894G>T	c.(892-894)agG>agT	p.R298S	C2CD2_ENST00000329623.7_Missense_Mutation_p.R143S	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	298	C2.					cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGCTGGAGAACCTCTGAACAG	0.488													4	18					0.00909568	0.00954547	1	0	A	43332500	C	A	43332500	3	1	98	1	0	0	0	0	1	0	0	0	2172	506	18	4	1228	4	C2CD2	21	43332500	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08	20425586	43332500	4797395	152	18936											
MYO18B	84700	broad.mit.edu	37	chr22	26194047	26194047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccatctaccacctgggtgCggcgggggcctgcaaaggta	8	6	15	12	2	1	0	0	0	1	0	1	0	1	0	4	5	4	2	4	5	3	2			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr22:26194047C>T	ENST00000335473.7	+	12	2754	c.2504C>T	c.(2503-2505)gCg>gTg	p.A835V	MYO18B_ENST00000536101.1_Missense_Mutation_p.A835V|MYO18B_ENST00000407587.2_Missense_Mutation_p.A835V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	835	Myosin head-like.		A -> G (in a lung squamous cell carcinoma sample; somatic mutation).			nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.A835E(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACCTGGGTGCGGCGGGGGCC	0.662													9	17					0	0	0	0	T	26194047	C	T	26194047	3	4	98	1	0	0	0	0	1	0	0	0	10136	768	27	1	2546	1	MYO18B	22	26194047	Missense_Mutation	SNP	C	TCGA-CN-6019-01A-11D-1683-08		26194047	25110519	153	18937											
HMGXB4	10042	broad.mit.edu	37	chr22	35689036	35689037	+	Frame_Shift_Del	DEL	TG	TG	-																															tgcttctggattccattatcTgtgcccttggccccttggca																										TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr22:35689036_35689037delTG	ENST00000216106.5	+	10	1818_1819	c.1690_1691delTG	c.(1690-1692)tfs	p.C564fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.C455fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	564					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCATTATCTGTGCCCTTGGC	0.49													12	76	---	---	---	---					-	35689037	TG	-	35689036	7	5	98	1	0	1	0	1	0	0	0	0	7289	1580	55	0	1724	0	HMGXB4	22	35689036	Frame_Shift_Del	DEL	TG	TCGA-CN-6019-01A-11D-1683-08	9494989	35689036	15615530	154	18938											
KIAA1210	57481	broad.mit.edu	37	chrX	118221839	118221839	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaagatgtctgggaagCagctgctccttagaaatgtc	11	10	13	7	0	1	2	0	0	1	2	3	4	2	4	1	2	3	3	1	2	4	1			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chrX:118221839C>A	ENST00000402510.2	-	11	3353	c.3354G>T	c.(3352-3354)ctG>ctT	p.L1118L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1118										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTCTGGGAAGCAGCTGCTCCT	0.488													6	77					0.00116845	0.00129002	1	0	A	118221839	C	A	118221839	2	1	98	1	0	0	0	0	0	0	0	1	8265	697	25	4		4	KIAA1210	23	118221839	Silent	SNP	C	TCGA-CN-6019-01A-11D-1683-08		118221839	37048721	155	18939											
PLEKHG5	57449	broad.mit.edu	37	chr1	6529217	6529217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctcctcctcttcctcctCctgctcatcctcctcctctt	1	16	1	23	0	3	0	1	0	2	0	12	0	12	0	9	0	1	1	9	0	0	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:6529217C>T	ENST00000377748.1	-	20	2862	c.2365G>A	c.(2365-2367)Gag>Aag	p.E789K	PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E712K|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E781K|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E712K|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E712K|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E791K|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.E768K|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E749K|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E789K|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E712K|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E712K|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E712K	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	768					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		tcttcctcctcctgctcatcc	0.637													17	87					0	0	0	0	T	6529217	C	T	6529217	3	4	99	1	0	0	0	0	1	0	0	0	12145	864	30	2	898	2	PLEKHG5	1	6529217	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08		6529217	242721404	1	18940											
RPS6KA1	6195	broad.mit.edu	37	chr1	26888033	26888033	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgtgtacctggtgacagAgctgatgcggggtggggagc	8	7	18	8	2	0	3	0	2	0	1	0	4	0	4	1	5	4	2	1	5	1	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:26888033A>T	ENST00000374168.2	+	17	1623	c.1469A>T	c.(1468-1470)gAg>gTg	p.E490V	RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E398V|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E479V|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E474V|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E398V|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E499V	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	490	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTGGTGACAGAGCTGATGCGG	0.582													16	132					0	0	0	0	T	26888033	A	T	26888033	3	4	99	1	0	0	0	0	1	0	0	0	13735	304	11	5	1674	5	RPS6KA1	1	26888033	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08	20358816	26888033	222362588	2	18941											
EYA3	2140	broad.mit.edu	37	chr1	28339624	28339624	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagctgcggtgcttaccaGaggaaagtctctgtgctgca	9	9	13	10	1	1	2	0	0	1	2	2	3	1	3	1	2	6	4	1	2	2	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:28339624G>C	ENST00000373871.3	-	9	1007	c.767C>G	c.(766-768)tCt>tGt	p.S256C	EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.S130C|EYA3_ENST00000545175.1_Missense_Mutation_p.S203C|EYA3_ENST00000373863.3_Missense_Mutation_p.S210C|EYA3_ENST00000373864.1_Missense_Mutation_p.S100C|EYA3_ENST00000540618.1_Missense_Mutation_p.S210C			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	256					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GTGCTTACCAGAGGAAAGTCT	0.468													4	110					0	0	0	0	C	28339624	G	C	28339624	3	2	99	1	0	0	0	0	1	0	0	0	5368	942	33	2	994	2	EYA3	1	28339624	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	1451591	28339624	220910997	3	18942											
MACF1	23499	broad.mit.edu	37	chr1	39797053	39797053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacctctctttggaggaggGcatagccagaaacctcatta	13	9	9	10	0	2	1	1	0	1	1	3	3	2	3	3	3	3	1	3	3	4	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:39797053G>A	ENST00000564288.1	+	37	5570	c.4793G>A	c.(4792-4794)gGc>gAc	p.G1598D	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G38D|MACF1_ENST00000372915.3_Missense_Mutation_p.G1603D|MACF1_ENST00000567887.1_Missense_Mutation_p.G1635D|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1603					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGGAGGAGGGCATAGCCAGA	0.537													4	76					0	0	0	0	A	39797053	G	A	39797053	3	1	99	1	0	0	0	0	1	0	0	0	9209	1203	42	4	4884	4	MACF1	1	39797053	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	11457429	39797053	209453568	4	18943											
TTC22	55001	broad.mit.edu	37	chr1	55266812	55266812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgagggcgtctagatcgtCggccacagcctccagctccg	7	7	13	14	4	1	2	0	1	1	1	5	3	3	2	4	2	2	1	4	2	1	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:55266812C>T	ENST00000371276.4	-	1	128	c.25G>A	c.(25-27)Gac>Aac	p.D9N	TTC22_ENST00000371274.4_Missense_Mutation_p.D9N	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	9							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCTAGATCGTCGGCCACAGCC	0.667													3	26					0	0	0	0	T	55266812	C	T	55266812	3	4	99	1	0	0	0	0	1	0	0	0	16785	884	31	1	1815	1	TTC22	1	55266812	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	15469759	55266812	193983809	5	18944											
LEPR	3953	broad.mit.edu	37	chr1	66036308	66036308	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattcgaatggacattatGagacagctgttgaacctaag	15	10	9	7	1	0	2	0	2	0	1	1	5	0	3	1	1	2	2	1	1	5	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:66036308G>T	ENST00000349533.6	+	4	378	c.193G>T	c.(193-195)Gag>Tag	p.E65*	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371059.3_Nonsense_Mutation_p.E65*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.E65*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.E65*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E65*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	65					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGACATTATGAGACAGCTGT	0.378													4	103					0.00909568	0.00926649	1	0	T	66036308	G	T	66036308	4	4	99	1	0	0	0	0	0	1	0	0	8781	1291	45	2	199	2	LEPR	1	66036308	Nonsense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	10769496	66036308	183214313	6	18945											
SLC44A5	204962	broad.mit.edu	37	chr1	75683637	75683637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaaatgctagggatcctGtgtgatatctgcacaaaaat	14	11	8	8	0	1	1	0	1	1	0	3	2	3	2	2	1	2	2	2	1	5	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:75683637G>T	ENST00000370855.5	-	18	1651	c.1538C>A	c.(1537-1539)aCa>aAa	p.T513K	SLC44A5_ENST00000535611.1_Missense_Mutation_p.T383K|SLC44A5_ENST00000370859.3_Missense_Mutation_p.T513K	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	513						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TAGGGATCCTGTGTGATATCT	0.284													4	45					0.00909568	0.00926649	1	0	T	75683637	G	T	75683637	3	4	99	1	0	0	0	0	1	0	0	0	14727	1377	48	4	760	4	SLC44A5	1	75683637	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	9647329	75683637	173566984	7	18946											
LPAR3	23566	broad.mit.edu	37	chr1	85331150	85331150	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtatgcggagacaagacGttggttttcctcttgacgta	8	14	11	8	3	1	3	0	1	1	2	2	4	2	3	1	2	1	4	1	2	3	7			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:85331150G>A	ENST00000440886.1	-	1	692	c.654C>T	c.(652-654)aaC>aaT	p.N218N	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Silent_p.N218N			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	218					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GAGACAAGACGTTGGTTTTCC	0.512													5	37					0	0	0	0	A	85331150	G	A	85331150	2	1	99	1	0	0	0	0	0	0	0	1	8970	1136	40	1		1	LPAR3	1	85331150	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	9647513	85331150	163919471	8	18947											
GBP3	2635	broad.mit.edu	37	chr1	89476691	89476693	+	In_Frame_Del	DEL	CTT	CTT	-																															cgaataaattcccgccttcaCttcttcttctagaggactga																										TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:89476691_89476693delCTT	ENST00000370481.4	-	8	1476_1478	c.1256_1258delAAG	c.(1255-1260)gtg>g	p.EV419del		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	419						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CCCGCCTTCACTTCTTCTTCTAG	0.419													33	223	---	---	---	---					-	89476693	CTT	-	89476691	7	5	99	1	0	1	0	1	0	0	0	0	6324	565	20	0	545	0	GBP3	1	89476691	In_Frame_Del	DEL	CTT	TCGA-CN-6020-01A-11D-1683-08	4145541	89476691	159773930	9	18948											
GBP4	115361	broad.mit.edu	37	chr1	89657032	89657032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagttgtctgattgcataagGaaatgcctttccagattttc	11	15	8	7	0	1	2	0	1	1	1	3	3	2	3	2	1	2	2	2	1	3	6			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:89657032G>A	ENST00000355754.6	-	6	925	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	276						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		ATTGCATAAGGAAATGCCTTT	0.413													9	87					0	0	0	0	A	89657032	G	A	89657032	2	1	99	1	0	0	0	0	0	0	0	1	6325	1165	41	2		2	GBP4	1	89657032	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	180341	89657032	159593589	10	18949											
LRRC39	127495	broad.mit.edu	37	chr1	100620742	100620742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttcgttgcagccataacGtatgtagattttgcattctg	9	16	8	8	2	1	1	0	0	1	1	2	1	1	1	1	0	4	5	1	0	3	8	rs149823600		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:100620742G>A	ENST00000370138.1	-	8	875	c.677C>T	c.(676-678)aCg>aTg	p.T226M	LRRC39_ENST00000342895.3_Missense_Mutation_p.T226M|LRRC39_ENST00000370137.1_Missense_Mutation_p.T226M	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	226										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CAGCCATAACGTATGTAGATT	0.294													7	29					0	0	0	0	A	100620742	G	A	100620742	3	1	99	1	0	0	0	0	1	0	0	0	9059	1145	40	1	342	1	LRRC39	1	100620742	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	10963710	100620742	148629879	11	18950											
KCNA3	3738	broad.mit.edu	37	chr1	111216896	111216896	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcggatctcctcggagaaaAtgtcgatgggcacgttgacc	10	8	13	10	4	1	2	0	1	1	1	4	5	1	3	2	3	1	2	2	3	2	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:111216896A>T	ENST00000369769.2	-	1	759	c.536T>A	c.(535-537)aTt>aAt	p.I179N		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	179						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCGGAGAAAATGTCGATGGG	0.647													23	98					0	0	0	0	T	111216896	A	T	111216896	3	4	99	1	0	0	0	0	1	0	0	0	8057	101	4	5	1195	5	KCNA3	1	111216896	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08	10596154	111216896	138033725	12	18951											
FAM46C	54855	broad.mit.edu	37	chr1	118166445	118166445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggtgaacgagagcaccGtgtgtctcatggggcatgaa	9	8	17	7	2	1	3	1	2	1	1	2	4	1	3	1	4	2	2	1	4	2	0			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:118166445G>T	ENST00000369448.3	+	2	1202	c.955G>T	c.(955-957)Gtg>Ttg	p.V319L		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	319										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CGAGAGCACCGTGTGTCTCAT	0.537			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			12	43					1.61879e-10	1.8685e-10	1	0	T	118166445	G	T	118166445	3	4	99	1	0	0	0	0	1	0	0	0	5614	1145	40	3	957	3	FAM46C	1	118166445	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	6949549	118166445	131084176	13	18952											
YY1AP1	55249	broad.mit.edu	37	chr1	155640205	155640205	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatacatgaaaaccttgcTtgtggccaggatccaagcca	12	9	10	10	0	0	1	0	1	0	0	1	3	1	3	4	3	4	1	4	3	4	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:155640205T>C	ENST00000368340.5	-	7	1156	c.1048A>G	c.(1048-1050)Agc>Ggc	p.S350G	YY1AP1_ENST00000368339.5_Missense_Mutation_p.S350G|YY1AP1_ENST00000368330.2_Missense_Mutation_p.S212G|YY1AP1_ENST00000438245.2_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.S78G|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000355499.4_Missense_Mutation_p.S212G|YY1AP1_ENST00000347088.5_Missense_Mutation_p.S212G|YY1AP1_ENST00000407221.1_Missense_Mutation_p.S201G|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000311573.5_Missense_Mutation_p.S201G|YY1AP1_ENST00000295566.4_Missense_Mutation_p.S278G|YY1AP1_ENST00000405763.3_Missense_Mutation_p.S350G|YY1AP1_ENST00000404643.1_Missense_Mutation_p.S212G|YY1AP1_ENST00000359205.5_Missense_Mutation_p.S201G|YY1AP1_ENST00000361831.5_Missense_Mutation_p.S201G	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AAAACCTTGCTTGTGGCCAGG	0.428													31	60					0	0	0	0	C	155640205	T	C	155640205	3	2	99	1	0	0	0	0	1	0	0	0	17604	1609	56	5	1634	5	YY1AP1	1	155640205	Missense_Mutation	SNP	T	TCGA-CN-6020-01A-11D-1683-08	37473760	155640205	93610416	14	18953											
KIF14	9928	broad.mit.edu	37	chr1	200550376	200550376	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctgctgatagcattggcTtcctgaatcatcattgagag	9	14	10	8	0	2	3	2	3	0	1	3	4	3	3	1	1	3	4	1	1	2	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:200550376T>C	ENST00000367350.4	-	20	3726	c.3288A>G	c.(3286-3288)gaA>gaG	p.E1096E		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1096	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TAGCATTGGCTTCCTGAATCA	0.328													18	75					0	0	0	0	C	200550376	T	C	200550376	2	2	99	1	0	0	0	0	0	0	0	1	8327	1606	56	5		5	KIF14	1	200550376	Silent	SNP	T	TCGA-CN-6020-01A-11D-1683-08	44910171	200550376	48700245	15	18954											
AGT	183	broad.mit.edu	37	chr1	230839947	230839947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcacacatacctcccccaCcctgatgcggtcattgctca	8	9	6	18	1	3	1	3	1	0	0	4	1	4	1	4	1	3	2	4	1	1	2	rs61751067		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:230839947C>G	ENST00000366667.4	-	4	1475	c.1261G>C	c.(1261-1263)Gtg>Ctg	p.V421L		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	421					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	ACCTCCCCCACCCTGATGCGG	0.582													13	39					0	0	0	0	G	230839947	C	G	230839947	3	3	99	1	0	0	0	0	1	0	0	0	399	507	18	4	204	4	AGT	1	230839947	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	30289571	230839947	18410674	16	18955											
RYR2	6262	broad.mit.edu	37	chr1	237777871	237777871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccagttggagggactactGaattcctctttgtacctctc	8	13	8	12	0	2	1	0	1	2	0	4	3	3	3	3	2	2	2	3	2	3	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:237777871G>A	ENST00000366574.2	+	37	5760	c.5443G>A	c.(5443-5445)Gaa>Aaa	p.E1815K	RYR2_ENST00000542537.1_Missense_Mutation_p.E1799K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1813K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1815	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGACTACTGAATTCCTCTT	0.483													26	202					0	0	0	0	A	237777871	G	A	237777871	3	1	99	1	0	0	0	0	1	0	0	0	13854	1291	45	2	5589	2	RYR2	1	237777871	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	6937924	237777871	11472750	17	18956											
RYR2	6262	broad.mit.edu	37	chr1	237947096	237947096	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactaaaggatttgacgtcGtctgatacttttaaagaata	16	13	7	5	2	1	3	0	2	1	1	2	4	1	4	0	1	2	0	0	1	8	6			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:237947096G>A	ENST00000366574.2	+	90	12401	c.12084G>A	c.(12082-12084)tcG>tcA	p.S4028S	RYR2_ENST00000542537.1_Silent_p.S4012S|RYR2_ENST00000360064.6_Silent_p.S4034S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4028	EF-hand.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTGACGTCGTCTGATACTT	0.423													4	19					0	0	0	0	A	237947096	G	A	237947096	2	1	99	1	0	0	0	0	0	0	0	1	13854	1132	40	1		1	RYR2	1	237947096	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	169225	237947096	11303525	18	18957											
CHRM3	1131	broad.mit.edu	37	chr1	240072485	240072485	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtaccagcagagacagtcGgtcatttttcacaagcgcgc	11	8	10	12	3	2	1	2	0	0	1	3	2	2	1	1	1	3	2	1	1	2	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:240072485G>A	ENST00000255380.4	+	5	2513	c.1734G>A	c.(1732-1734)tcG>tcA	p.S578S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	578					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AGAGACAGTCGGTCATTTTTC	0.488													9	49					0	0	0	0	A	240072485	G	A	240072485	2	1	99	1	0	0	0	0	0	0	0	1	3407	1103	39	1		1	CHRM3	1	240072485	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	2125389	240072485	9178136	19	18958											
OR14A16	284532	broad.mit.edu	37	chr1	247978352	247978352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgactggccttctgtggaaGggatcttcttgactgtagag	7	14	13	7	0	3	3	0	2	3	1	3	5	3	5	1	3	0	1	1	3	2	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:247978352G>A	ENST00000357627.1	-	1	679	c.680C>T	c.(679-681)cCt>cTt	p.P227L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTCTGTGGAAGGGATCTTCTT	0.403													10	54					0	0	0	0	A	247978352	G	A	247978352	3	1	99	1	0	0	0	0	1	0	0	0	11016	1000	35	4	253	4	OR14A16	1	247978352	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	7905867	247978352	1272269	20	18959											
RPS27A	6233	broad.mit.edu	37	chr2	55462059	55462059	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaagaagaataagcacaaGagaaagaaggttaagctggc	19	4	11	7	0	0	4	0	0	0	4	0	5	0	4	1	2	2	3	1	2	8	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:55462059G>A	ENST00000272317.6	+	5	606	c.282G>A	c.(280-282)aaG>aaA	p.K94K	RPS27A_ENST00000402285.3_Silent_p.K94K|RPS27A_ENST00000404735.1_Silent_p.K94K	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	94	Lys-rich (highly basic).				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						ATAAGCACAAGAGAAAGAAGG	0.398													12	17					0	0	0	0	A	55462059	G	A	55462059	2	1	99	1	0	0	0	0	0	0	0	1	13724	933	33	2		2	RPS27A	2	55462059	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08		55462059	187737314	21	18960											
USP34	9736	broad.mit.edu	37	chr2	61570972	61570972	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgactaagatgttcatggtaAatggaagctaaattgggaag	15	11	12	3	0	1	2	1	1	0	1	1	4	1	4	0	3	1	3	0	3	7	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:61570972A>G	ENST00000398571.2	-	16	2554	c.2478T>C	c.(2476-2478)atT>atC	p.I826I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	826					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTTCATGGTAAATGGAAGCTA	0.363													17	94					0	0	0	0	G	61570972	A	G	61570972	2	3	99	1	0	0	0	0	0	0	0	1	17161	10	1	5		5	USP34	2	61570972	Silent	SNP	A	TCGA-CN-6020-01A-11D-1683-08	6108913	61570972	181628401	22	18961											
CLEC4F	165530	broad.mit.edu	37	chr2	71036884	71036884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcacgctttgttctgggCggcgttgaatggtgtcccat	5	13	13	10	3	2	1	1	1	1	0	3	2	3	1	1	3	0	3	1	3	1	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:71036884C>T	ENST00000272367.2	-	6	1721	c.1645G>A	c.(1645-1647)Gcc>Acc	p.A549T	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A549T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	549	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTGTTCTGGGCGGCGTTGAAT	0.557													11	56					0	0	0	0	T	71036884	C	T	71036884	3	4	99	1	0	0	0	0	1	0	0	0	3546	768	27	1	132	1	CLEC4F	2	71036884	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	9465912	71036884	172162489	23	18962											
GCC2	9648	broad.mit.edu	37	chr2	109116150	109116150	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagagagacttcttcctgttAtaaatacgatgttgcagctc	11	13	9	8	1	1	2	0	0	1	2	3	5	2	2	1	0	3	4	1	0	4	6			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:109116150A>G	ENST00000309863.6	+	22	5638	c.4924A>G	c.(4924-4926)Ata>Gta	p.I1642V		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1642	GRIP.|Mediates interaction with RAB9A.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TCTTCCTGTTATAAATACGAT	0.443													19	277					0	0	0	0	G	109116150	A	G	109116150	3	3	99	1	0	0	0	0	1	0	0	0	6335	449	16	5	5010	5	GCC2	2	109116150	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08	38079266	109116150	134083223	24	18963											
SMPD4	55627	broad.mit.edu	37	chr2	130911487	130911487	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtttggcctgtgtgaTgagctgagcgaggcgcagga	6	11	18	6	2	0	3	0	3	0	0	0	5	0	4	1	3	2	3	1	3	0	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:130911487T>A	ENST00000409031.1	-	17	2946	c.1798A>T	c.(1798-1800)Atc>Ttc	p.I600F	SMPD4_ENST00000453750.1_Missense_Mutation_p.I349F|SMPD4_ENST00000443958.2_Missense_Mutation_p.I264F|SMPD4_ENST00000351288.6_Missense_Mutation_p.I571F|SMPD4_ENST00000426662.2_Missense_Mutation_p.I236F|SMPD4_ENST00000339679.7_Missense_Mutation_p.I458F|SMPD4_ENST00000431183.2_Missense_Mutation_p.I498F|SMPD4_ENST00000452225.2_Missense_Mutation_p.I341F	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	561					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCCTGTGTGATGAGCTGAGCG	0.642													3	35					0	0	0	0	A	130911487	T	A	130911487	3	1	99	1	0	0	0	0	1	0	0	0	14895	1464	51	5	818	5	SMPD4	2	130911487	Missense_Mutation	SNP	T	TCGA-CN-6020-01A-11D-1683-08	21795337	130911487	112287886	25	18964											
NEB	4703	broad.mit.edu	37	chr2	152385794	152385794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctggctcaatggtgcagttgGatttatttctttggtatact	7	18	10	6	0	2	0	1	0	1	0	2	1	2	1	0	4	2	4	0	4	4	7			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:152385794G>C	ENST00000397345.3	-	146	21867	c.21665C>G	c.(21664-21666)tCc>tGc	p.S7222C	NEB_ENST00000604864.1_Missense_Mutation_p.S7222C|NEB_ENST00000603639.1_Missense_Mutation_p.S7222C|NEB_ENST00000409198.1_Missense_Mutation_p.S5521C|NEB_ENST00000172853.10_Missense_Mutation_p.S5521C|NEB_ENST00000427231.2_Missense_Mutation_p.S7222C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5521					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTGCAGTTGGATTTATTTCT	0.393													5	40					0	0	0	0	C	152385794	G	C	152385794	3	2	99	1	0	0	0	0	1	0	0	0	10372	1174	41	2	4060	2	NEB	2	152385794	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	21474307	152385794	90813579	26	18965											
CYTIP	9595	broad.mit.edu	37	chr2	158272595	158272595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcctggcccaggcaggggtCcaaacaaagacaattcatcc	12	5	11	13	0	1	1	1	0	0	1	3	1	3	1	4	5	1	1	4	5	3	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:158272595C>T	ENST00000264192.3	-	8	795	c.674G>A	c.(673-675)gGa>gAa	p.G225E	CYTIP_ENST00000540637.1_Missense_Mutation_p.G119E	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	225					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AGGCAGGGGTCCAAACAAAGA	0.498													11	41					0	0	0	0	T	158272595	C	T	158272595	3	4	99	1	0	0	0	0	1	0	0	0	4239	855	30	2	409	2	CYTIP	2	158272595	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	5886801	158272595	84926778	27	18966											
PPIG	9360	broad.mit.edu	37	chr2	170492733	170492733	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgaaagatggatcaagggGgataagtaagatttaactat	16	10	13	2	0	1	3	1	1	0	2	1	5	1	5	0	4	1	1	0	4	6	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:170492733G>T	ENST00000260970.3	+	13	1369	c.1149G>T	c.(1147-1149)ggG>ggT	p.G383G	PPIG_ENST00000448752.2_Silent_p.G383G|PPIG_ENST00000409714.3_Silent_p.G368G|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	383					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GGATCAAGGGGGATAAGTAAG	0.353													12	74					4.36969e-10	4.99065e-10	1	0	T	170492733	G	T	170492733	2	4	99	1	0	0	0	0	0	0	0	1	12400	1219	43	4		4	PPIG	2	170492733	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	12220138	170492733	72706640	28	18967											
TTN	7273	broad.mit.edu	37	chr2	179434069	179434069	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttggcgtgtccagaactCtcacagtaacaaaggcagac	13	7	10	11	1	1	2	1	0	1	2	3	3	2	2	1	2	2	2	1	2	3	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:179434069C>G	ENST00000589042.1	-	326	77014	c.76790G>C	c.(76789-76791)aGa>aCa	p.R25597T	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23029T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16724T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23956T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16532T|TTN_ENST00000359218.5_Missense_Mutation_p.R16657T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23956	Fibronectin type-III 86.						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)			GTCCAGAACTCTCACAGTAAC	0.423													12	161					0	0	0	0	G	179434069	C	G	179434069	3	3	99	1	0	0	0	0	1	0	0	0	16831	913	32	2	31337	2	TTN	2	179434069	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	8941336	179434069	63765304	29	18968											
TTN	7273	broad.mit.edu	37	chr2	179664379	179664379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggaggtgttttatgtGgcagctgttgcccagcggca	5	12	15	9	1	0	0	0	0	0	0	1	1	1	1	2	4	3	5	2	4	1	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:179664379G>A	ENST00000589042.1	-	6	973	c.749C>T	c.(748-750)cCa>cTa	p.P250L	TTN_ENST00000342992.6_Missense_Mutation_p.P250L|TTN_ENST00000342175.6_Missense_Mutation_p.P250L|TTN_ENST00000591111.1_Missense_Mutation_p.P250L|TTN_ENST00000360870.5_Missense_Mutation_p.P250L|TTN_ENST00000460472.2_Missense_Mutation_p.P250L|TTN_ENST00000359218.5_Missense_Mutation_p.P250L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	250							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)			TGTTTTATGTGGCAGCTGTTG	0.498													19	47					0	0	0	0	A	179664379	G	A	179664379	3	1	99	1	0	0	0	0	1	0	0	0	16831	1348	47	4	110667	4	TTN	2	179664379	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	230310	179664379	63534994	30	18969											
HECW2	57520	broad.mit.edu	37	chr2	197105285	197105285	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgatctcttcggataattaAcctgtccataaagagacaat	14	12	7	8	1	1	2	0	1	1	1	4	4	2	3	2	1	1	0	2	1	5	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:197105285A>G	ENST00000260983.2	-	21	3834	c.3650_splice	c.e21-1	p.L1218_splice	HECW2_ENST00000409111.1_Splice_Site_p.L862_splice	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1218					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGGATAATTAACCTGTCCATA	0.308													10	50					0	0	0	0	G	197105285	A	G	197105285	5	3	99	1	0	0	0	0	0	0	1	0	7093	57	2	5	1102	5	HECW2	2	197105285	Splice_Site	SNP	A	TCGA-CN-6020-01A-11D-1683-08	17440906	197105285	46094088	31	18970											
FAM117B	150864	broad.mit.edu	37	chr2	203621983	203621983	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctccacccccccttgtacaGagaagtagcagcacgcgcag	10	5	10	16	2	0	1	0	0	0	1	1	2	1	1	4	0	3	6	4	0	3	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:203621983G>A	ENST00000303116.6	+	6	1162	c.420G>A	c.(418-420)caG>caA	p.Q140Q	FAM117B_ENST00000392238.2_Silent_p.Q384Q	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	384	Poly-Pro.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CCCTTGTACAGAGAAGTAGCA	0.498													4	50					0	0	0	0	A	203621983	G	A	203621983	2	1	99	1	0	0	0	0	0	0	0	1	5451	933	33	2		2	FAM117B	2	203621983	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	6516698	203621983	39577390	32	18971											
UGT1A4	54657	broad.mit.edu	37	chr2	234627538	234627538	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctcagtgtccagccCtgggctgagagtggaaaggt	7	9	13	12	0	1	1	1	1	0	1	4	3	4	2	4	3	1	1	4	3	1	0			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:234627538C>G	ENST00000373409.3	+	1	115	c.72C>G	c.(70-72)ccC>ccG	p.P24P	UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		GTGTCCAGCCCTGGGCTGAGA	0.657													10	58					0	0	0	0	G	234627538	C	G	234627538	2	3	99	1	0	0	0	0	0	0	0	1	17043	668	24	4		4	UGT1A4	2	234627538	Silent	SNP	C	TCGA-CN-6020-01A-11D-1683-08	31005555	234627538	8571835	33	18972											
ANKMY1	51281	broad.mit.edu	37	chr2	241463753	241463753	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agactccaggtttgtgtccaTaaatgatgatgaaaggattg	13	12	11	5	0	0	4	0	3	0	1	2	5	2	5	2	2	0	1	2	2	3	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:241463753T>C	ENST00000391987.1	-	8	1480	c.1114A>G	c.(1114-1116)Atg>Gtg	p.M372V	ANKMY1_ENST00000401804.1_Missense_Mutation_p.M461V|ANKMY1_ENST00000373318.2_Missense_Mutation_p.M231V|ANKMY1_ENST00000373320.4_Missense_Mutation_p.M142V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.M231V|ANKMY1_ENST00000272972.3_Missense_Mutation_p.M372V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.M231V|ANKMY1_ENST00000405002.1_Missense_Mutation_p.M142V|ANKMY1_ENST00000403283.1_Missense_Mutation_p.M310V|ANKMY1_ENST00000536462.1_Missense_Mutation_p.M184V|ANKMY1_ENST00000406958.1_Missense_Mutation_p.M231V			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	372							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TTTGTGTCCATAAATGATGAT	0.463													16	75					0	0	0	0	C	241463753	T	C	241463753	3	2	99	1	0	0	0	0	1	0	0	0	634	1406	49	5	1755	5	ANKMY1	2	241463753	Missense_Mutation	SNP	T	TCGA-CN-6020-01A-11D-1683-08	6836215	241463753	1735620	34	18973											
THUMPD3	25917	broad.mit.edu	37	chr3	9426231	9426231	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatctggaatgcgacacgtAtggcgaaaggtggatacagt	12	10	13	6	3	1	0	0	0	1	0	1	4	1	2	0	4	2	1	0	4	5	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:9426231A>G	ENST00000345094.3	+	10	1717	c.1383A>G	c.(1381-1383)gtA>gtG	p.V461V	THUMPD3_ENST00000515662.2_Silent_p.V461V|THUMPD3_ENST00000452837.2_Silent_p.V461V|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	461							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TGCGACACGTATGGCGAAAGG	0.418													34	108					0	0	0	0	G	9426231	A	G	9426231	2	3	99	1	0	0	0	0	0	0	0	1	15978	436	16	5		5	THUMPD3	3	9426231	Silent	SNP	A	TCGA-CN-6020-01A-11D-1683-08		9426231	188596199	35	18974											
BSN	8927	broad.mit.edu	37	chr3	49690316	49690316	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctccccgacggaggagctGaggcaggcggccgagatgga	8	3	18	12	4	0	2	0	1	0	1	1	7	1	5	4	6	1	2	4	6	0	0			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:49690316G>A	ENST00000296452.4	+	5	3441	c.3327G>A	c.(3325-3327)ctG>ctA	p.L1109L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1109					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGGAGGAGCTGAGGCAGGCGG	0.642													13	91					0	0	0	0	A	49690316	G	A	49690316	2	1	99	1	0	0	0	0	0	0	0	1	1538	1277	45	2		2	BSN	3	49690316	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	40264085	49690316	148332114	36	18975											
MITF	4286	broad.mit.edu	37	chr3	70014334	70014334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctttcctcagtgtcccccGgagcttccaaaacaagcagc	9	9	7	16	1	1	0	1	0	0	0	5	1	5	1	5	1	4	2	5	1	3	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:70014334G>A	ENST00000352241.4	+	10	1661	c.1498G>A	c.(1498-1500)Gga>Aga	p.G500R	MITF_ENST00000394355.2_Missense_Mutation_p.G475R|MITF_ENST00000472437.1_Missense_Mutation_p.G448R|MITF_ENST00000448226.2_Missense_Mutation_p.G506R|MITF_ENST00000394351.3_Missense_Mutation_p.G399R|MITF_ENST00000328528.6_Missense_Mutation_p.G499R|MITF_ENST00000314557.6_Missense_Mutation_p.G393R|MITF_ENST00000314589.5_Missense_Mutation_p.G484R|MITF_ENST00000531774.1_Missense_Mutation_p.G337R	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	506					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AGTGTCCCCCGGAGCTTCCAA	0.537			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						4	65					0	0	0	0	A	70014334	G	A	70014334	3	1	99	1	0	0	0	0	1	0	0	0	9665	1117	39	1	1775	1	MITF	3	70014334	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	20324018	70014334	128008096	37	18976											
EPHA6	285220	broad.mit.edu	37	chr3	96706382	96706382	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacttgcaaagaaacatttaAtctgttttatatggaatcag	15	14	7	5	0	2	1	1	0	1	1	2	3	2	2	0	1	2	2	0	1	6	6			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:96706382A>G	ENST00000389672.5	+	3	697	c.659A>G	c.(658-660)aAt>aGt	p.N220S	EPHA6_ENST00000542517.1_Missense_Mutation_p.N126S|EPHA6_ENST00000470610.2_Missense_Mutation_p.N220S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	125						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAAACATTTAATCTGTTTTAT	0.398													10	161					0	0	0	0	G	96706382	A	G	96706382	3	3	99	1	0	0	0	0	1	0	0	0	5209	101	4	5	669	5	EPHA6	3	96706382	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08	26692048	96706382	101316048	38	18977											
KIAA2018	205717	broad.mit.edu	37	chr3	113377897	113377897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttagatttcgatacagactCaggtattaatgattcagagc	13	13	8	7	1	2	4	2	1	0	3	3	5	2	4	0	1	2	1	0	1	4	6			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:113377897C>T	ENST00000316407.4	-	7	3042	c.2632G>A	c.(2632-2634)Gag>Aag	p.E878K	KIAA2018_ENST00000478658.1_Missense_Mutation_p.E878K|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	878	Ser-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATACAGACTCAGGTATTAAT	0.438													40	95					0	0	0	0	T	113377897	C	T	113377897	3	4	99	1	0	0	0	0	1	0	0	0	8319	835	29	2	4109	2	KIAA2018	3	113377897	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	16671515	113377897	84644533	39	18978											
TM4SF1	4071	broad.mit.edu	37	chr3	149089484	149089484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggttcttacctgttggtgaGagcagcaaaagccacatatg	12	10	11	8	0	1	1	0	1	1	1	1	2	1	1	2	2	4	4	2	2	4	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:149089484G>A	ENST00000472441.1	-	2	440	c.317C>T	c.(316-318)tCt>tTt	p.S106F	TM4SF1_ENST00000305366.3_Missense_Mutation_p.S195F			P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	195						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CTGTTGGTGAGAGCAGCAAAA	0.398													29	130					0	0	0	0	A	149089484	G	A	149089484	3	1	99	1	0	0	0	0	1	0	0	0	16060	942	33	2	32	2	TM4SF1	3	149089484	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	35711587	149089484	48932946	40	18979											
TNIK	23043	broad.mit.edu	37	chr3	170928972	170928972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catagtatgtagcaatattcCggtgatgagaatatttcttc	12	15	8	6	1	1	2	0	2	1	1	3	3	2	2	1	1	1	3	1	1	7	8			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:170928972C>G	ENST00000436636.2	-	4	583	c.239G>C	c.(238-240)cGg>cCg	p.R80P	TNIK_ENST00000538048.1_Missense_Mutation_p.R80P|TNIK_ENST00000488470.1_Missense_Mutation_p.R80P|TNIK_ENST00000475336.1_Missense_Mutation_p.R80P|TNIK_ENST00000470834.1_Missense_Mutation_p.R80P|TNIK_ENST00000460047.1_Missense_Mutation_p.R80P|TNIK_ENST00000369326.5_Missense_Mutation_p.R80P|TNIK_ENST00000357327.5_Missense_Mutation_p.R80P|TNIK_ENST00000341852.6_Missense_Mutation_p.R80P|TNIK_ENST00000284483.8_Missense_Mutation_p.R80P	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	80	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AGCAATATTCCGGTGATGAGA	0.343													15	76					0	0	0	0	G	170928972	C	G	170928972	3	3	99	1	0	0	0	0	1	0	0	0	16407	652	23	3	3963	3	TNIK	3	170928972	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	21839488	170928972	27093458	41	18980											
KLHL24	54800	broad.mit.edu	37	chr3	183381346	183381346	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctacgatcctgtaacaggaGaatggaagtctttggctaag	12	10	12	7	1	1	1	0	0	1	1	2	4	2	2	1	3	2	3	1	3	5	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:183381346G>C	ENST00000454652.1	+	5	1407	c.1021G>C	c.(1021-1023)Gaa>Caa	p.E341Q	KLHL24_ENST00000242810.6_Missense_Mutation_p.E341Q|KLHL24_ENST00000476808.1_Missense_Mutation_p.E341Q			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	341						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TGTAACAGGAGAATGGAAGTC	0.413													5	111					0	0	0	0	C	183381346	G	C	183381346	3	2	99	1	0	0	0	0	1	0	0	0	8431	943	33	2	1027	2	KLHL24	3	183381346	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	12452374	183381346	14641084	42	18981											
ATP13A4	84239	broad.mit.edu	37	chr3	193166066	193166066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttttgtctcttccttcaatCgattctccaagatcagcagc	8	15	6	12	1	4	1	2	0	2	1	8	2	5	1	2	0	2	2	2	0	2	5	rs144335118		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:193166066C>T	ENST00000342695.4	-	18	2403	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q	ATP13A4_ENST00000392443.3_Missense_Mutation_p.R675Q	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	694					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTCCTTCAATCGATTCTCCAA	0.393													13	108					0	0	0	0	T	193166066	C	T	193166066	3	4	99	1	0	0	0	0	1	0	0	0	1130	884	31	1	1561	1	ATP13A4	3	193166066	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	9784720	193166066	4856364	43	18982											
FGFRL1	53834	broad.mit.edu	37	chr4	1017629	1017629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accgcgcttcacacagccctCcaagatgaggcgccgggtga	9	5	12	15	4	1	3	1	2	0	1	2	3	2	3	4	2	1	1	4	2	1	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:1017629C>T	ENST00000398484.2	+	6	1038	c.458C>T	c.(457-459)tCc>tTc	p.S153F	FGFRL1_ENST00000510644.1_Missense_Mutation_p.S153F|FGFRL1_ENST00000264748.6_Missense_Mutation_p.S153F|FGFRL1_ENST00000504138.1_Missense_Mutation_p.S153F			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	153	Ig-like C2-type 2.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACACAGCCCTCCAAGATGAGG	0.711													4	8					0	0	0	0	T	1017629	C	T	1017629	3	4	99	1	0	0	0	0	1	0	0	0	5914	855	30	2	472	2	FGFRL1	4	1017629	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08		1017629	190136647	44	18983											
HTT	3064	broad.mit.edu	37	chr4	3201579	3201579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatgatcaccacccaccCggccctggtgctgctctggt	5	10	9	17	1	2	1	1	1	1	0	3	1	3	1	5	3	2	2	5	3	0	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:3201579C>T	ENST00000355072.5	+	41	5634	c.5489C>T	c.(5488-5490)cCg>cTg	p.P1830L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1830					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACCACCCACCCGGCCCTGGTG	0.587													7	46					0	0	0	0	T	3201579	C	T	3201579	3	4	99	1	0	0	0	0	1	0	0	0	7510	652	23	1	5651	1	HTT	4	3201579	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	2183950	3201579	187952697	45	18984											
UGT2B15	7366	broad.mit.edu	37	chr4	69513072	69513072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttggtcatgatgaattCttgataatttcatgacattc	10	18	8	5	0	3	4	2	4	1	0	4	4	3	4	0	2	0	1	0	2	2	7			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:69513072C>A	ENST00000338206.5	-	6	1352	c.1343G>T	c.(1342-1344)aGa>aTa	p.R448I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	448					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ATGATGAATTCTTGATAATTT	0.383													6	118					0.000157383	0.000165787	1	0	A	69513072	C	A	69513072	3	1	99	1	0	0	0	0	1	0	0	0	17054	913	32	2	1870	2	UGT2B15	4	69513072	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	66311493	69513072	121641204	46	18985											
UGT2B11	10720	broad.mit.edu	37	chr4	70080064	70080064	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaactacatctttacagAagtttctaaatatgtcatat	15	16	4	6	0	3	2	1	1	2	1	3	2	3	2	0	0	3	1	0	0	8	8			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:70080064A>T	ENST00000446444.1	-	1	385	c.377T>A	c.(376-378)tTc>tAc	p.F126Y	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	126					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATCTTTACAGAAGTTTCTAAA	0.333													12	79					0	0	0	0	T	70080064	A	T	70080064	3	4	99	1	0	0	0	0	1	0	0	0	17053	246	9	5	1236	5	UGT2B11	4	70080064	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08	566992	70080064	121074212	47	18986											
CCDC158	339965	broad.mit.edu	37	chr4	77276585	77276585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatccccattgccactttCatagctggaaaaaaaaaaga	16	9	6	10	0	1	1	1	0	0	1	2	2	2	2	3	1	3	2	3	1	6	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:77276585C>A	ENST00000388914.3	-	14	2330	c.2178G>T	c.(2176-2178)atG>atT	p.M726I		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	726										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTGCCACTTTCATAGCTGGAA	0.383													31	110					1.80694e-10	2.07464e-10	1	0	A	77276585	C	A	77276585	3	1	99	1	0	0	0	0	1	0	0	0	2816	826	29	2	1207	2	CCDC158	4	77276585	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	7196521	77276585	113877691	48	18987											
PTPN13	5783	broad.mit.edu	37	chr4	87691069	87691069	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acagccagcagcagaaagtgGaaaaattgatgtaggagatg	17	6	13	5	0	0	3	0	1	0	2	0	5	0	4	1	2	3	3	1	2	4	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:87691069G>C	ENST00000436978.1	+	29	5132	c.4652G>C	c.(4651-4653)gGa>gCa	p.G1551A	PTPN13_ENST00000316707.6_Missense_Mutation_p.G1355A|PTPN13_ENST00000427191.2_Missense_Mutation_p.G1527A|PTPN13_ENST00000411767.2_Missense_Mutation_p.G1546A|PTPN13_ENST00000511467.1_Missense_Mutation_p.G1551A	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1546	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCAGAAAGTGGAAAAATTGAT	0.408													7	98					0	0	0	0	C	87691069	G	C	87691069	3	2	99	1	0	0	0	0	1	0	0	0	12862	1174	41	2	4762	2	PTPN13	4	87691069	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	10414484	87691069	103463207	49	18988											
SPOCK3	50859	broad.mit.edu	37	chr4	167658711	167658711	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacactgccatgacattgtgTtggcttgtagtaaccatctt	10	14	8	9	0	1	1	0	1	1	0	1	1	1	1	2	1	3	4	2	1	3	6			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:167658711T>A	ENST00000357154.3	-	11	1185	c.1048A>T	c.(1048-1050)Aca>Tca	p.T350S	SPOCK3_ENST00000541354.1_Missense_Mutation_p.T230S|SPOCK3_ENST00000535728.1_Missense_Mutation_p.T218S|SPOCK3_ENST00000502330.1_Missense_Mutation_p.T350S|SPOCK3_ENST00000534949.1_Missense_Mutation_p.T254S|SPOCK3_ENST00000510741.1_Missense_Mutation_p.T307S|SPOCK3_ENST00000504953.1_Missense_Mutation_p.T347S|SPOCK3_ENST00000357545.4_Missense_Mutation_p.T347S|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Missense_Mutation_p.T350S|SPOCK3_ENST00000511531.1_Missense_Mutation_p.T350S|SPOCK3_ENST00000421836.2_Missense_Mutation_p.T299S|SPOCK3_ENST00000541637.1_Missense_Mutation_p.T252S|SPOCK3_ENST00000511269.1_Missense_Mutation_p.T347S|SPOCK3_ENST00000512681.1_Missense_Mutation_p.T252S	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	350	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGACATTGTGTTGGCTTGTAG	0.423													32	109					0	0	0	0	A	167658711	T	A	167658711	3	1	99	1	0	0	0	0	1	0	0	0	15171	1725	60	5	270	5	SPOCK3	4	167658711	Missense_Mutation	SNP	T	TCGA-CN-6020-01A-11D-1683-08	79967642	167658711	23495565	50	18989											
GPM6A	2823	broad.mit.edu	37	chr4	176573064	176573064	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggtccacagattgaagtaCatgtaaactggcagtgaggt	13	10	12	6	0	0	3	0	2	0	1	1	3	1	3	1	3	2	3	1	3	4	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:176573064C>G	ENST00000280187.7	-	5	507	c.462G>C	c.(460-462)atG>atC	p.M154I	GPM6A_ENST00000393658.2_Missense_Mutation_p.M154I|GPM6A_ENST00000515090.1_Missense_Mutation_p.M147I|GPM6A_ENST00000506894.1_Missense_Mutation_p.M143I	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	154						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GATTGAAGTACATGTAAACTG	0.458													3	49					0	0	0	0	G	176573064	C	G	176573064	3	3	99	1	0	0	0	0	1	0	0	0	6664	478	17	4	390	4	GPM6A	4	176573064	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	8914353	176573064	14581212	51	18990											
ASB5	140458	broad.mit.edu	37	chr4	177190237	177190237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataattgttgagcaaacggcCgattttcttctaacaccgac	12	12	7	10	3	2	1	0	1	2	0	2	3	2	1	2	1	3	2	2	1	3	7			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:177190237C>T	ENST00000296525.3	-	1	136	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	8					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGCAAACGGCCGATTTTCTTC	0.448													8	53					0	0	0	0	T	177190237	C	T	177190237	3	4	99	1	0	0	0	0	1	0	0	0	1030	652	23	1	994	1	ASB5	4	177190237	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	617173	177190237	13964039	52	18991											
SLC12A7	10723	broad.mit.edu	37	chr5	1057669	1057669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgatcagcttctccctggtCcaggtcatctgcaccttgtc	5	12	9	15	1	4	0	2	0	2	0	7	1	5	0	3	2	2	2	3	2	0	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:1057669C>A	ENST00000264930.5	-	22	2986	c.2943G>T	c.(2941-2943)tgG>tgT	p.W981C		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	981					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCTCCCTGGTCCAGGTCATCT	0.617													11	204					1.58986e-06	1.76923e-06	1	0	A	1057669	C	A	1057669	3	1	99	1	0	0	0	0	1	0	0	0	14476	856	30	2	320	2	SLC12A7	5	1057669	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08		1057669	179857591	53	18992											
DNAH5	1767	broad.mit.edu	37	chr5	13891111	13891111	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttggagaaactcttcacAggttagtggctcctcctggg	8	12	11	10	0	2	1	1	0	1	1	4	2	4	1	2	4	1	2	2	4	2	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:13891111A>T	ENST00000265104.4	-	17	2655	c.2551T>A	c.(2551-2553)Tgt>Agt	p.C851S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	851	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACTCTTCACAGGTTAGTGGC	0.393									Kartagener syndrome				10	152					0	0	0	0	T	13891111	A	T	13891111	3	4	99	1	0	0	0	0	1	0	0	0	4641	188	7	5	11575	5	DNAH5	5	13891111	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08	12833442	13891111	167024149	54	18993											
CDH10	1008	broad.mit.edu	37	chr5	24492957	24492957	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtactgtgaagtttggattGacagcagctaaactgaaaaa	15	11	10	5	0	0	3	0	3	0	0	0	4	0	4	0	1	4	4	0	1	6	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:24492957G>C	ENST00000264463.4	-	10	2100	c.1593C>G	c.(1591-1593)gtC>gtG	p.V531V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	531	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGTTTGGATTGACAGCAGCTA	0.333										HNSCC(23;0.051)			7	197					0	0	0	0	C	24492957	G	C	24492957	2	2	99	1	0	0	0	0	0	0	0	1	3125	1277	45	2		2	CDH10	5	24492957	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	10601846	24492957	156422303	55	18994											
NUP155	9631	broad.mit.edu	37	chr5	37331895	37331895	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtttatgaaacataaggctCccctaagaaatttgaagaaa	18	10	7	6	0	0	4	0	2	0	2	1	4	1	4	2	1	1	2	2	1	7	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:37331895C>G	ENST00000231498.3	-	14	1724	c.1521G>C	c.(1519-1521)ggG>ggC	p.G507G	NUP155_ENST00000513532.1_Silent_p.G507G|NUP155_ENST00000381843.2_Silent_p.G448G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	507					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACATAAGGCTCCCCTAAGAAA	0.343													6	65					0	0	0	0	G	37331895	C	G	37331895	2	3	99	1	0	0	0	0	0	0	0	1	10827	842	30	2		2	NUP155	5	37331895	Silent	SNP	C	TCGA-CN-6020-01A-11D-1683-08	12838938	37331895	143583365	56	18995											
ACOT12	134526	broad.mit.edu	37	chr5	80667569	80667569	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaaaggtgcctcttacCtccatgcttgtgctgaatgc	8	14	9	10	0	1	2	0	2	1	0	2	2	2	2	3	1	5	2	3	1	4	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:80667569C>A	ENST00000307624.3	-	3	286	c.258_splice	c.e3+1	p.E86_splice	ACOT12_ENST00000513751.1_Splice_Site_p.E86_splice	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	86	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGCCTCTTACCTCCATGCTTG	0.398													19	52					1.9806e-07	2.23849e-07	1	0	A	80667569	C	A	80667569	5	1	99	1	0	0	0	0	0	0	1	0	150	695	24	4	1461	4	ACOT12	5	80667569	Splice_Site	SNP	C	TCGA-CN-6020-01A-11D-1683-08	43335674	80667569	100247691	57	18996											
APC	324	broad.mit.edu	37	chr5	112174376	112174376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacaccaataaattatagtCttaaatattcagatgagcag	18	12	5	6	0	2	2	1	1	1	1	2	2	2	2	1	0	2	1	1	0	9	7			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:112174376C>A	ENST00000457016.1	+	16	3465	c.3085C>A	c.(3085-3087)Ctt>Att	p.L1029I	APC_ENST00000257430.4_Missense_Mutation_p.L1029I|APC_ENST00000508376.2_Missense_Mutation_p.L1029I|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1029	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAATTATAGTCTTAAATATTC	0.363		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			5	65					0.00116845	0.00120739	1	0	A	112174376	C	A	112174376	3	1	99	1	0	0	0	0	1	0	0	0	764	913	32	2	3143	2	APC	5	112174376	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	31506807	112174376	68740884	58	18997											
IL13	3596	broad.mit.edu	37	chr5	131993989	131993989	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcctccccaggccctgtGcctccctctacagccctcag	4	10	7	20	0	2	0	1	0	1	0	4	0	4	0	7	1	4	0	7	1	1	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:131993989G>T	ENST00000304506.3	+	1	125	c.111G>T	c.(109-111)gtG>gtT	p.V37V	AC004041.2_ENST00000435042.1_RNA|IL13_ENST00000468334.1_Intron	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	37					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGGCCCTGTGCCTCCCTCTA	0.592													10	28					0.000442599	0.00046175	1	0	T	131993989	G	T	131993989	2	4	99	1	0	0	0	0	0	0	0	1	7681	1306	46	4		4	IL13	5	131993989	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	19819613	131993989	48921271	59	18998											
PCDHA6	56142	broad.mit.edu	37	chr5	140207691	140207691	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgacatggtgtttaccccGgaggatagattgggaaagca	11	11	13	6	1	0	2	0	1	0	1	0	5	0	5	2	4	2	2	2	4	3	5	rs17844300		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:140207691G>A	ENST00000529310.1	+	1	129	c.15G>A	c.(13-15)ccG>ccA	p.P5P	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.P5P|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTTACCCCGGAGGATAGAT	0.478													20	121					0	0	0	0	A	140207691	G	A	140207691	2	1	99	1	0	0	0	0	0	0	0	1	11599	1103	39	1		1	PCDHA6	5	140207691	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	8213702	140207691	40707569	60	18999											
LARP1	23367	broad.mit.edu	37	chr5	154179273	154179273	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgatttctcccagcttctCaactgccctgaatttgttcc	7	15	5	14	0	2	2	1	2	2	0	5	2	3	2	3	0	3	2	3	0	2	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:154179273C>T	ENST00000336314.4	+	9	1293	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	500	HTH La-type RNA-binding.						protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCCAGCTTCTCAACTGCCCTG	0.502													9	88					0	0	0	0	T	154179273	C	T	154179273	2	4	99	1	0	0	0	0	0	0	0	1	8681	813	29	2		2	LARP1	5	154179273	Silent	SNP	C	TCGA-CN-6020-01A-11D-1683-08	13971582	154179273	26735987	61	19000											
PRPH2	5961	broad.mit.edu	37	chr6	42689520	42689520	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctttggaggaaaagtccaGgtagcgattgctgatccact	10	12	11	8	1	1	1	0	1	1	0	3	4	3	3	2	3	2	2	2	3	3	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:42689520G>A	ENST00000230381.5	-	1	792	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	185			L -> P (in RP7; in combination with a null mutation of ROM1).		cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GAAAAGTCCAGGTAGCGATTG	0.502													24	141					0	0	0	0	A	42689520	G	A	42689520	2	1	99	1	0	0	0	0	0	0	0	1	12657	991	35	4		4	PRPH2	6	42689520	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08		42689520	128425547	62	19001											
AARS2	57505	broad.mit.edu	37	chr6	44279951	44279951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttggccacacgtcggaagCctgccatctcgcttcgtgga	6	10	12	13	4	1	0	0	0	1	0	4	2	1	2	3	3	2	2	3	3	1	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:44279951C>T	ENST00000244571.4	-	2	295	c.293G>A	c.(292-294)gGc>gAc	p.G98D		NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	98					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	ACGTCGGAAGCCTGCCATCTC	0.527													13	56					0	0	0	0	T	44279951	C	T	44279951	3	4	99	1	0	0	0	0	1	0	0	0	20	739	26	4	2748	4	AARS2	6	44279951	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	1590431	44279951	126835116	63	19002											
DDX43	55510	broad.mit.edu	37	chr6	74104706	74104706	+	Silent	SNP	G	G	T																															agctcgacagtgtcccgagcGccagagaggaggccggcgga																										TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:74104706G>T	ENST00000370336.4	+	1	236	c.78G>T	c.(76-78)gcG>gcT	p.A26A	DDX43_ENST00000539829.1_Silent_p.A26A|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	26						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGTCCCGAGCGCCAGAGAGGA	0.642													13	73					2.31682e-05	2.48886e-05	1	0	T	74104706	G	T	74104706	2	4	99	1	0	0	0	0	0	0	0	1	4395	1074	38	3		3	DDX43	6	74104706	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	29824755	74104706	97010361	64	19003	156	2									
DDX43	55510	broad.mit.edu	37	chr6	74104707	74104707	+	Missense_Mutation	SNP	C	C	A																															gctcgacagtgtcccgagcgCcagagaggaggccggcggag																										TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:74104707C>A	ENST00000370336.4	+	1	237	c.79C>A	c.(79-81)Cca>Aca	p.P27T	DDX43_ENST00000539829.1_Missense_Mutation_p.P27T|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	27						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GTCCCGAGCGCCAGAGAGGAG	0.642													13	73					6.72482e-11	7.80367e-11	1	0	A	74104707	C	A	74104707	3	1	99	1	0	0	0	0	1	0	0	0	4395	739	26	4	81	4	DDX43	6	74104707	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	1	74104707	97010360	65	19004	156	2									
IMPG1	3617	broad.mit.edu	37	chr6	76660707	76660707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcagtggccattgtatCtgtggtgccttgatcagtca	6	14	12	9	0	4	1	3	1	1	0	4	1	4	1	2	3	1	1	2	3	1	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:76660707C>A	ENST00000369950.3	-	13	1585	c.1396G>T	c.(1396-1398)Gat>Tat	p.D466Y	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	466					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCCATTGTATCTGTGGTGCCT	0.502													7	57					0.248553	0.250865	1	0	A	76660707	C	A	76660707	3	1	99	1	0	0	0	0	1	0	0	0	7781	913	32	2	1017	2	IMPG1	6	76660707	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	2556000	76660707	94454360	66	19005											
GOPC	57120	broad.mit.edu	37	chr6	117896462	117896462	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaacaatttcacttcagcTtcaagttgtgcttctttcat	9	17	4	11	0	6	0	5	0	1	0	6	0	6	0	0	0	3	3	0	0	3	6			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:117896462T>C	ENST00000535237.1	-	4	757	c.528A>G	c.(526-528)gaA>gaG	p.E176E	GOPC_ENST00000368498.2_Silent_p.E176E|GOPC_ENST00000052569.6_Silent_p.E168E					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TCACTTCAGCTTCAAGTTGTG	0.348			O	ROS1	glioblastoma								6	34					0	0	0	0	C	117896462	T	C	117896462	2	2	99	1	0	0	0	0	0	0	0	1	6621	1606	56	5		5	GOPC	6	117896462	Silent	SNP	T	TCGA-CN-6020-01A-11D-1683-08	41235755	117896462	53218605	67	19006											
SMPDL3A	10924	broad.mit.edu	37	chr6	123124975	123124975	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactctcagcagaataaggaGaaggtagatcccatagacca	17	6	9	9	0	1	4	1	0	1	4	3	5	2	4	2	2	2	2	2	2	6	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:123124975G>C	ENST00000368440.4	+	5	912	c.735G>C	c.(733-735)gaG>gaC	p.E245D	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.E114D	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	245					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AGAATAAGGAGAAGGTAGATC	0.393													15	74					0	0	0	0	C	123124975	G	C	123124975	3	2	99	1	0	0	0	0	1	0	0	0	14896	933	33	2	753	2	SMPDL3A	6	123124975	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	5228513	123124975	47990092	68	19007											
SUN1	23353	broad.mit.edu	37	chr7	883110	883110	+	Frame_Shift_Del	DEL	C	C	-																															gctcacggcgcaccccgcggCccccgggcccgtgtcgagag																										TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:883110delC	ENST00000456758.2	+	8	785	c.785delC	c.(784-786)gcfs	p.A262fs	SUN1_ENST00000401592.1_Frame_Shift_Del_p.A204fs|SUN1_ENST00000389574.3_Frame_Shift_Del_p.A154fs|SUN1_ENST00000425407.2_Frame_Shift_Del_p.A154fs|SUN1_ENST00000403868.1_Frame_Shift_Del_p.A204fs|SUN1_ENST00000457378.2_Frame_Shift_Del_p.A225fs|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000405266.1_Frame_Shift_Del_p.A204fs			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	204	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACCCCGCGGCCCCCGGGCCC	0.557													81	263	---	---	---	---					-	883110	C	-	883110	7	5	99	1	0	1	0	1	0	0	0	0	15481	739	26	0	696	0	SUN1	7	883110	Frame_Shift_Del	DEL	C	TCGA-CN-6020-01A-11D-1683-08		883110	158255553	69	19008											
AMZ1	155185	broad.mit.edu	37	chr7	2740214	2740214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccctgccgagcggctcttCctggccgaggcctacaaccc	5	7	10	19	3	1	0	0	0	1	0	3	2	3	0	7	3	4	1	7	3	2	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:2740214C>A	ENST00000312371.4	+	2	497	c.129C>A	c.(127-129)ttC>ttA	p.F43L	AMZ1_ENST00000407112.1_Missense_Mutation_p.F43L	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	43							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGCGGCTCTTCCTGGCCGAGG	0.672													16	182					1.02788e-11	1.1992e-11	1	0	A	2740214	C	A	2740214	3	1	99	1	0	0	0	0	1	0	0	0	596	854	30	2	131	2	AMZ1	7	2740214	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	1857104	2740214	156398449	70	19009											
DGKB	1607	broad.mit.edu	37	chr7	14378214	14378214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccttttttctctattcgtCgatggcttcgtcttttctta	4	21	5	11	3	3	0	0	0	3	0	7	1	3	0	1	1	0	1	1	1	2	9			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:14378214C>T	ENST00000403951.2	-	23	2470	c.2051G>A	c.(2050-2052)cGa>cAa	p.R684Q	DGKB_ENST00000407950.1_Missense_Mutation_p.R676Q|DGKB_ENST00000399322.3_Missense_Mutation_p.R684Q|DGKB_ENST00000406247.3_Missense_Mutation_p.R684Q|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.R684Q|DGKB_ENST00000444700.2_Missense_Mutation_p.R665Q|DGKB_ENST00000402815.1_Missense_Mutation_p.R683Q			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	684					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CTCTATTCGTCGATGGCTTCG	0.393													4	89					0	0	0	0	T	14378214	C	T	14378214	3	4	99	1	0	0	0	0	1	0	0	0	4503	884	31	1	394	1	DGKB	7	14378214	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	11638000	14378214	144760449	71	19010											
RAPGEF5	9771	broad.mit.edu	37	chr7	22202079	22202079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtacagagcaatccactggGaaacaagatgcaagacttta	16	8	9	8	0	0	3	0	0	0	3	1	4	1	4	1	1	4	3	1	1	6	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:22202079G>T	ENST00000344041.6	-	13	1217	c.905C>A	c.(904-906)tCc>tAc	p.S302Y	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.S152Y	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	152					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AATCCACTGGGAAACAAGATG	0.368													4	63					2.56e-06	2.8199e-06	1	0	T	22202079	G	T	22202079	3	4	99	1	0	0	0	0	1	0	0	0	13129	1174	41	2	1343	2	RAPGEF5	7	22202079	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	7823865	22202079	136936584	72	19011											
TYW1B	441250	broad.mit.edu	37	chr7	72159743	72159743	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttgaagagtgggcggtcGattttcttcaggctgtcttt	5	16	12	8	2	3	2	1	1	2	1	5	3	4	2	1	3	0	1	1	3	1	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:72159743G>A	ENST00000438125.1	-	0	1053							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GTGGGCGGTCGATTTTCTTCA	0.388													8	68					0	0	0	0	A	72159743	G	A	72159743	1	1	99	0	1	0	0	0	0	0	0	0	16915	1048	37	1		1	TYW1B	7	72159743	RNA	SNP	G	TCGA-CN-6020-01A-11D-1683-08	49957664	72159743	86978920	73	19012											
PEX1	5189	broad.mit.edu	37	chr7	92138667	92138667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagctcagctttaaaaaaGgaagaataaagtcaatttcc	19	9	7	6	0	2	2	2	0	0	2	3	3	3	3	1	1	2	2	1	1	9	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:92138667G>A	ENST00000248633.4	-	9	1741	c.1646C>T	c.(1645-1647)cCt>cTt	p.P549L	PEX1_ENST00000438045.1_Missense_Mutation_p.P227L|PEX1_ENST00000541751.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.P549L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	549					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTTTAAAAAAGGAAGAATAAA	0.333													9	45					0	0	0	0	A	92138667	G	A	92138667	3	1	99	1	0	0	0	0	1	0	0	0	11807	1000	35	4	2269	4	PEX1	7	92138667	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	19978924	92138667	66999996	74	19013											
MUC17	140453	broad.mit.edu	37	chr7	100684155	100684155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaacttctgaaggtaccaGcatgccaacctcaactccta	13	9	5	14	0	2	1	1	1	1	0	3	1	3	1	4	1	7	2	4	1	7	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:100684155G>A	ENST00000306151.4	+	3	9522	c.9458G>A	c.(9457-9459)aGc>aAc	p.S3153N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3153	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGTACCAGCATGCCAACC	0.478													108	208					0	0	0	0	A	100684155	G	A	100684155	3	1	99	1	0	0	0	0	1	0	0	0	10044	971	34	4	9468	4	MUC17	7	100684155	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	8545488	100684155	58454508	75	19014											
KCND2	3751	broad.mit.edu	37	chr7	120385968	120385968	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgttcacgacgacaCaaaaaaacttttcgcatccc	13	9	5	14	3	1	0	1	0	0	0	3	2	2	0	2	0	2	3	2	0	3	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:120385968C>G	ENST00000331113.4	+	5	2567	c.1602C>G	c.(1600-1602)caC>caG	p.H534Q		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	534					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CACGACGACACAAAAAAACTT	0.448													7	55					0	0	0	0	G	120385968	C	G	120385968	3	3	99	1	0	0	0	0	1	0	0	0	8072	477	17	4	1620	4	KCND2	7	120385968	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	19701813	120385968	38752695	76	19015											
DPP6	1804	broad.mit.edu	37	chr7	154379648	154379648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggactgccaatggcaccAggcttcgcagccatgcacct	9	6	11	15	1	0	0	0	0	0	0	1	1	0	1	4	3	3	5	4	3	1	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:154379648A>G	ENST00000406326.1	+	6	1319	c.916A>G	c.(916-918)Agg>Ggg	p.R306G	DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAATGGCACCAGGCTTCGCAG	0.582													15	92					0	0	0	0	G	154379648	A	G	154379648	3	3	99	1	0	0	0	0	1	0	0	0	4766	203	7	5		5	DPP6	7	154379648	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08	33993680	154379648	4759015	77	19016											
RP1L1	94137	broad.mit.edu	37	chr8	10469745	10469745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggaagaggctccttcCgagtcccaggagcaggaaag	10	5	17	9	1	0	1	0	0	0	1	3	5	3	4	3	6	1	2	3	6	2	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:10469745C>T	ENST00000382483.3	-	4	2086	c.1863G>A	c.(1861-1863)tcG>tcA	p.S621S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	621					intracellular signal transduction					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)		AGGCTCCTTCCGAGTCCCAGG	0.647													5	64					0	0	0	0	T	10469745	C	T	10469745	2	4	99	1	0	0	0	0	0	0	0	1	13618	639	23	1		1	RP1L1	8	10469745	Silent	SNP	C	TCGA-CN-6020-01A-11D-1683-08		10469745	135894277	78	19017											
ADAM7	8756	broad.mit.edu	37	chr8	24324479	24324479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttccaggggataatgaatCtgaagaagactccaaaataa	17	9	9	6	0	1	4	0	2	1	2	3	5	3	5	2	2	0	1	2	2	7	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:24324479C>G	ENST00000175238.6	+	6	640	c.557C>G	c.(556-558)tCt>tGt	p.S186C	ADAM7_ENST00000441335.2_Missense_Mutation_p.S186C|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.S186C|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	186					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GATAATGAATCTGAAGAAGAC	0.348													12	84					0	0	0	0	G	24324479	C	G	24324479	3	3	99	1	0	0	0	0	1	0	0	0	251	913	32	2	579	2	ADAM7	8	24324479	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	13854734	24324479	122039543	79	19018											
STAR	6770	broad.mit.edu	37	chr8	38003513	38003513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctgctcaggcatgttcccGaagtctgtggccatgccagc	6	11	11	13	1	3	0	1	0	2	0	4	1	4	0	3	2	3	3	3	2	1	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:38003513G>A	ENST00000276449.4	-	5	1064	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	206	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GCATGTTCCCGAAGTCTGTGG	0.617													6	128					0	0	0	0	A	38003513	G	A	38003513	2	1	99	1	0	0	0	0	0	0	0	1	15344	1049	37	1		1	STAR	8	38003513	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	13679034	38003513	108360509	80	19019											
ADAM2	2515	broad.mit.edu	37	chr8	39626980	39626980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacacactgcttgctgtttGaaaaaaggatctaagcgagg	13	9	10	9	1	1	1	0	1	1	0	1	3	1	2	1	2	3	3	1	2	4	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:39626980G>C	ENST00000265708.4	-	12	1246	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	ADAM2_ENST00000347580.4_Missense_Mutation_p.F362L|ADAM2_ENST00000379853.2_Missense_Mutation_p.F255L|ADAM2_ENST00000521880.1_Missense_Mutation_p.F381L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	381					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTGCTGTTTGAAAAAAGGAT	0.443													3	52					0	0	0	0	C	39626980	G	C	39626980	3	2	99	1	0	0	0	0	1	0	0	0	241	1281	45	2	1100	2	ADAM2	8	39626980	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	1623467	39626980	106737042	81	19020											
HOOK3	84376	broad.mit.edu	37	chr8	42821703	42821703	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggcaacagaatgatgaactGaccactttggcagatgaagc	14	7	11	9	1	0	6	0	4	0	2	0	6	0	6	1	2	3	2	1	2	4	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:42821703G>C	ENST00000307602.4	+	10	1067	c.867G>C	c.(865-867)ctG>ctC	p.L289L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	289					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ATGATGAACTGACCACTTTGG	0.448			T	RET	papillary thyroid								4	89					0	0	0	0	C	42821703	G	C	42821703	2	2	99	1	0	0	0	0	0	0	0	1	7334	1277	45	2		2	HOOK3	8	42821703	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	3194723	42821703	103542319	82	19021											
PRKDC	5591	broad.mit.edu	37	chr8	48801649	48801649	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatctttagagctttcatCagattcacacaaacatcagg	14	11	6	10	0	5	2	4	0	1	2	5	3	5	2	0	1	2	1	0	1	2	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:48801649C>A	ENST00000314191.2	-	34	4259	c.4203G>T	c.(4201-4203)ctG>ctT	p.L1401L	PRKDC_ENST00000338368.3_Silent_p.L1401L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1402					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAGCTTTCATCAGATTCACAC	0.483								Non-homologous end-joining					6	60					0.00116845	0.00120739	1	0	A	48801649	C	A	48801649	2	1	99	1	0	0	0	0	0	0	0	1	12601	813	29	2		2	PRKDC	8	48801649	Silent	SNP	C	TCGA-CN-6020-01A-11D-1683-08	5979946	48801649	97562373	83	19022											
MCM4	4173	broad.mit.edu	37	chr8	48882491	48882491	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggccttgatgaagaagcAgaacagaaacttttttcaga	15	10	9	7	0	1	6	1	2	0	4	1	6	1	6	1	1	3	1	1	1	4	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:48882491A>C	ENST00000262105.2	+	10	1517	c.1308A>C	c.(1306-1308)gcA>gcC	p.A436A	MCM4_ENST00000523944.1_Silent_p.A436A|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	436					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ATGAAGAAGCAGAACAGAAAC	0.423													29	115					0	0	0	0	C	48882491	A	C	48882491	2	2	99	1	0	0	0	0	0	0	0	1	9458	175	7	5		5	MCM4	8	48882491	Silent	SNP	A	TCGA-CN-6020-01A-11D-1683-08	80842	48882491	97481531	84	19023											
RP1	6101	broad.mit.edu	37	chr8	55541982	55541982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacctgtgccaaggaaagaaTagcaaatcatcatacagagg	18	6	9	8	0	2	2	2	0	0	2	2	3	2	3	2	2	4	1	2	2	7	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:55541982T>C	ENST00000220676.1	+	4	5688	c.5540T>C	c.(5539-5541)aTa>aCa	p.I1847T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1847					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGGAAAGAATAGCAAATCAT	0.408													18	43					0	0	0	0	C	55541982	T	C	55541982	3	2	99	1	0	0	0	0	1	0	0	0	13617	1406	49	5	5550	5	RP1	8	55541982	Missense_Mutation	SNP	T	TCGA-CN-6020-01A-11D-1683-08	6659491	55541982	90822040	85	19024											
MATN2	4147	broad.mit.edu	37	chr8	99006720	99006720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccagagatagactactGtgcctcatctaatcacggat	11	11	8	11	1	3	2	2	0	1	2	3	4	3	3	2	1	3	0	2	1	3	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:99006720G>T	ENST00000254898.5	+	7	1325	c.1094G>T	c.(1093-1095)tGt>tTt	p.C365F	MATN2_ENST00000524308.1_Intron|MATN2_ENST00000522025.2_Missense_Mutation_p.C81F|MATN2_ENST00000521689.1_Missense_Mutation_p.C365F|MATN2_ENST00000520016.1_Missense_Mutation_p.C365F	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	365	EGF-like 4.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ATAGACTACTGTGCCTCATCT	0.423													45	157					1.02067e-35	1.2103e-35	1	0	T	99006720	G	T	99006720	3	4	99	1	0	0	0	0	1	0	0	0	9403	1377	48	4	1116	4	MATN2	8	99006720	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	43464738	99006720	47357302	86	19025											
COL14A1	7373	broad.mit.edu	37	chr8	121216036	121216036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgttgccgaattcgatctGatgcacacagttgtggagag	11	11	12	7	2	1	2	0	1	1	1	2	5	1	2	1	1	2	3	1	1	2	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:121216036G>A	ENST00000297848.3	+	9	1236	c.966G>A	c.(964-966)ctG>ctA	p.L322L	COL14A1_ENST00000309791.4_Silent_p.L322L|COL14A1_ENST00000247781.3_Silent_p.L227L|COL14A1_ENST00000537875.1_Silent_p.L322L|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	322	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATTCGATCTGATGCACACAG	0.483													4	42					0	0	0	0	A	121216036	G	A	121216036	2	1	99	1	0	0	0	0	0	0	0	1	3701	1277	45	2		2	COL14A1	8	121216036	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	22209316	121216036	25147986	87	19026											
ZNF623	9831	broad.mit.edu	37	chr8	144732947	144732947	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggaaggcattccgtcAtcgctcagaccttattgaac	10	11	10	10	2	2	2	2	1	0	1	4	3	3	3	2	2	1	2	2	2	3	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:144732947A>T	ENST00000501748.2	+	1	994	c.905A>T	c.(904-906)cAt>cTt	p.H302L	ZNF623_ENST00000458270.2_Missense_Mutation_p.H262L|ZNF623_ENST00000526926.1_Missense_Mutation_p.H262L	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCATTCCGTCATCGCTCAGAC	0.453													13	47					0	0	0	0	T	144732947	A	T	144732947	3	4	99	1	0	0	0	0	1	0	0	0	18142	217	8	5	907	5	ZNF623	8	144732947	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08	23516911	144732947	1631075	88	19027											
CPSF1	29894	broad.mit.edu	37	chr8	145621932	145621932	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggctttggcttcttctCacggaagttgatgttgtgag	6	15	14	6	1	2	2	1	2	2	0	3	4	2	4	0	4	0	4	0	4	1	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:145621932C>A	ENST00000349769.3	-	25	2801	c.2707G>T	c.(2707-2709)Gag>Tag	p.E903*		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	903					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCTTCTTCTCACGGAAGTTG	0.642													33	99					8.16277e-20	9.57471e-20	1	0	A	145621932	C	A	145621932	4	1	99	1	0	0	0	0	0	1	0	0	3854	835	29	2	1680	2	CPSF1	8	145621932	Nonsense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	888985	145621932	742090	89	19028											
ELAVL2	1993	broad.mit.edu	37	chr9	23731115	23731115	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcacaaagccatatcccaAgctctgccctaatgaaaagg	14	8	7	12	0	2	1	1	1	1	0	3	1	3	1	3	1	3	2	3	1	6	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr9:23731115A>T	ENST00000397312.2	-	3	512	c.238T>A	c.(238-240)Ttg>Atg	p.L80M	ELAVL2_ENST00000223951.6_Missense_Mutation_p.L80M|ELAVL2_ENST00000380117.1_Missense_Mutation_p.L80M|ELAVL2_ENST00000544538.1_Missense_Mutation_p.L80M|ELAVL2_ENST00000380110.4_Missense_Mutation_p.L109M	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	80	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CCATATCCCAAGCTCTGCCCT	0.383													8	18					0	0	0	0	T	23731115	A	T	23731115	3	4	99	1	0	0	0	0	1	0	0	0	5088	69	3	5	861	5	ELAVL2	9	23731115	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08		23731115	117482316	90	19029											
FRMPD1	22844	broad.mit.edu	37	chr9	37735705	37735705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctgagaaagtgagcgtcGtcaaagtgtatcttcaggac	12	10	12	7	2	4	2	2	2	2	1	5	4	4	3	0	1	1	1	0	1	3	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr9:37735705G>A	ENST00000539465.1	+	13	1968	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	FRMPD1_ENST00000377765.3_Missense_Mutation_p.V459I|FRMPD1_ENST00000536622.1_Missense_Mutation_p.V281I|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.V328I			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	459	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGTGAGCGTCGTCAAAGTGTA	0.453													7	29					0	0	0	0	A	37735705	G	A	37735705	3	1	99	1	0	0	0	0	1	0	0	0	6105	1145	40	1	1421	1	FRMPD1	9	37735705	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	14004590	37735705	103477726	91	19030											
KIAA0368	23392	broad.mit.edu	37	chr9	114173379	114173379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccaaataccttcccaccGtgaatcccaatgcaagcaag	14	7	6	14	1	0	1	0	1	0	0	2	1	2	1	5	0	4	2	5	0	7	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr9:114173379G>A	ENST00000259335.4	-	23	2791	c.2792C>T	c.(2791-2793)aCg>aTg	p.T931M	KIAA0368_ENST00000338205.5_Missense_Mutation_p.T753M	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCTTCCCACCGTGAATCCCAA	0.438													5	196					0	0	0	0	A	114173379	G	A	114173379	3	1	99	1	0	0	0	0	1	0	0	0	8222	1145	40	1	3377	1	KIAA0368	9	114173379	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	76437674	114173379	27040052	92	19031											
AMBP	259	broad.mit.edu	37	chr9	116823281	116823281	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgttgccctggcagcccccGtaggggaagaggacgcactt	7	6	14	14	3	0	1	0	0	0	1	0	3	0	3	4	4	2	4	4	4	2	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr9:116823281G>A	ENST00000265132.3	-	9	1213	c.951C>T	c.(949-951)taC>taT	p.Y317Y		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	317	BPTI/Kunitz inhibitor 2.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGCAGCCCCCGTAGGGGAAGA	0.622													6	105					0	0	0	0	A	116823281	G	A	116823281	2	1	99	1	0	0	0	0	0	0	0	1	564	1140	40	1		1	AMBP	9	116823281	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	2649902	116823281	24390150	93	19032											
MLLT10	8028	broad.mit.edu	37	chr10	22022748	22022748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcatcagctctttctaccCcacctcctgctgggcagagt	6	11	8	16	0	4	1	2	0	2	1	5	1	5	1	4	1	3	4	4	1	1	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:22022748C>T	ENST00000377072.3	+	21	2944	c.2596C>T	c.(2596-2598)Cca>Tca	p.P866S	MLLT10_ENST00000377059.3_Missense_Mutation_p.P850S|MLLT10_ENST00000446906.2_Missense_Mutation_p.P850S|MLLT10_ENST00000307729.7_Missense_Mutation_p.P850S	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	866					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCTTTCTACCCCACCTCCTGC	0.527			T	"MLL, PICALM, CDK6"	AL								11	35					0	0	0	0	T	22022748	C	T	22022748	3	4	99	1	0	0	0	0	1	0	0	0	9695	623	22	4	2674	4	MLLT10	10	22022748	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08		22022748	113511999	94	19033											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43678751	43678751	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaagatgttcatctttatCgaaaatacttacatggtgac	14	13	8	6	1	2	3	1	1	1	2	3	5	2	3	0	1	2	1	0	1	6	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:43678751C>T	ENST00000374466.3	+	8	1725	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	464					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCATCTTTATCGAAAATACTT	0.438													6	132					0	0	0	0	T	43678751	C	T	43678751	4	4	99	1	0	0	0	0	0	1	0	0	3971	876	31	1	1416	1	CSGALNACT2	10	43678751	Nonsense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	21656003	43678751	91855996	95	19034											
PRKG1	5592	broad.mit.edu	37	chr10	54053631	54053631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgatgaaccaccacctgatGacaactcaggatgggatata	15	7	9	10	1	1	3	1	3	0	0	1	6	1	5	3	2	2	0	3	2	4	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:54053631G>C	ENST00000373980.4	+	18	2449	c.2032G>C	c.(2032-2034)Gac>Cac	p.D678H	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.D651H|PRKG1_ENST00000401604.2_Missense_Mutation_p.D663H|PRKG1_ENST00000373975.2_Missense_Mutation_p.D381H|PRKG1-AS1_ENST00000426785.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	663					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACCACCTGATGACAACTCAGG	0.433													8	60					0	0	0	0	C	54053631	G	C	54053631	3	2	99	1	0	0	0	0	1	0	0	0	12602	1290	45	2	2372	2	PRKG1	10	54053631	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	10374880	54053631	81481116	96	19035											
LRIT2	340745	broad.mit.edu	37	chr10	85984686	85984686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttctggcaggtgttccaGggctcctaggtggatcacac	7	10	13	11	0	2	0	1	0	1	0	4	1	4	1	2	5	0	4	2	5	1	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:85984686G>T	ENST00000372113.4	-	2	300	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	LRIT2_ENST00000538192.1_Missense_Mutation_p.L99M	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	99						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGGTGTTCCAGGGCTCCTAGG	0.522													10	136					2.17888e-05	2.35232e-05	1	0	T	85984686	G	T	85984686	3	4	99	1	0	0	0	0	1	0	0	0	9012	991	35	4	1365	4	LRIT2	10	85984686	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	31931055	85984686	49550061	97	19036											
HELLS	3070	broad.mit.edu	37	chr10	96333910	96333910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcactggaggagtgatgcGatggtaccaagtagaaggca	12	8	14	7	1	1	2	1	1	0	1	1	5	1	4	1	4	2	3	1	4	4	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:96333910G>A	ENST00000348459.5	+	8	776	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	HELLS_ENST00000371332.4_Missense_Mutation_p.R224Q|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.R224Q|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394044.1_Missense_Mutation_p.R224Q	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	224					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GGAGTGATGCGATGGTACCAA	0.393													5	92					0	0	0	0	A	96333910	G	A	96333910	3	1	99	1	0	0	0	0	1	0	0	0	7096	1058	37	1	701	1	HELLS	10	96333910	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	10349224	96333910	39200837	98	19037											
CYP2C8	1558	broad.mit.edu	37	chr10	96827015	96827015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagcttcctcttgaacaCggtcctcaatgctcctcttc	7	13	7	14	1	3	2	1	2	2	0	7	2	6	2	3	1	3	2	3	1	2	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:96827015C>T	ENST00000371270.3	-	3	525	c.431G>A	c.(430-432)cGt>cAt	p.R144H	CYP2C8_ENST00000539050.1_Missense_Mutation_p.R58H|CYP2C8_ENST00000535898.1_Missense_Mutation_p.R42H	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	144					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CTCTTGAACACGGTCCTCAAT	0.498													41	100					0	0	0	0	T	96827015	C	T	96827015	3	4	99	1	0	0	0	0	1	0	0	0	4199	536	19	1	1069	1	CYP2C8	10	96827015	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	493105	96827015	38707732	99	19038											
CCDC147	159686	broad.mit.edu	37	chr10	106160509	106160509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagttagctttgctctatgaGaagatcaagatccaacagtc	13	11	9	8	0	2	3	1	1	1	3	4	5	3	3	1	0	3	3	1	0	5	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:106160509G>C	ENST00000369704.3	+	13	2021	c.1887G>C	c.(1885-1887)gaG>gaC	p.E629D		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	629										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TGCTCTATGAGAAGATCAAGA	0.488													11	60					0	0	0	0	C	106160509	G	C	106160509	3	2	99	1	0	0	0	0	1	0	0	0	2806	933	33	2	1937	2	CCDC147	10	106160509	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	9333494	106160509	29374238	100	19039											
MKI67	4288	broad.mit.edu	37	chr10	129904685	129904685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggtaaatttcctggctggtCcagtttctgcactggagttc	7	14	11	9	0	1	0	0	0	1	0	4	1	3	1	2	4	1	5	2	4	2	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:129904685C>G	ENST00000368654.3	-	13	5794	c.5419G>C	c.(5419-5421)Gac>Cac	p.D1807H	MKI67_ENST00000368653.3_Missense_Mutation_p.D1447H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1807	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGGCTGGTCCAGTTTCTGC	0.493													8	110					0	0	0	0	G	129904685	C	G	129904685	3	3	99	1	0	0	0	0	1	0	0	0	9667	855	30	2	4363	2	MKI67	10	129904685	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	23744176	129904685	5630062	101	19040											
MKI67	4288	broad.mit.edu	37	chr10	129905202	129905202	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccactttccccagggatgtCttgagccgtcgcttggagct	5	11	11	14	2	1	1	0	1	1	0	3	3	2	3	4	2	2	2	4	2	0	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:129905202C>G	ENST00000368654.3	-	13	5277	c.4902G>C	c.(4900-4902)aaG>aaC	p.K1634N	MKI67_ENST00000368653.3_Missense_Mutation_p.K1274N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1634	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCAGGGATGTCTTGAGCCGTC	0.502													8	177					0	0	0	0	G	129905202	C	G	129905202	3	3	99	1	0	0	0	0	1	0	0	0	9667	912	32	2	4880	2	MKI67	10	129905202	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	517	129905202	5629545	102	19041											
MTG1	92170	broad.mit.edu	37	chr10	135233650	135233650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctgcggggccacccccCggctgagactttgccctgaa	5	7	12	17	3	0	2	0	2	0	1	1	3	1	2	6	3	2	1	6	3	1	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:135233650C>T	ENST00000468317.2	+	12	1256	c.1001C>T	c.(1000-1002)cCg>cTg	p.P334L	MTG1_ENST00000477902.2_Missense_Mutation_p.P288L|MTG1_ENST00000317502.6_Missense_Mutation_p.P329L																							GGCCACCCCCCGGCTGAGACT	0.652													17	61					0	0	0	0	T	135233650	C	T	135233650	3	4	99	1	0	0	0	0	1	0	0	0	9996	652	23	1	1028	1	MTG1	10	135233650	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	5328448	135233650	301097	103	19042											
MUC2	4583	broad.mit.edu	37	chr11	1103265	1103265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatccacaaccagctcatctCgtccgtctccaacatcacct	10	9	4	18	2	4	0	2	0	2	0	8	1	6	0	5	0	3	1	5	0	2	0			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:1103265C>T	ENST00000441003.2	+	46	8042	c.8015C>T	c.(8014-8016)tCg>tTg	p.S2672L		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5034						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGCTCATCTCGTCCGTCTCC	0.592													4	69					0	0	0	0	T	1103265	C	T	1103265	3	4	99	1	0	0	0	0	1	0	0	0	10045	893	31	1	8189	1	MUC2	11	1103265	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08		1103265	133903251	104	19043											
TAF10	6881	broad.mit.edu	37	chr11	6632981	6632981	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtctccgttggccgcgcTcggcagtacgtaaaccccgt	6	8	11	16	7	1	0	0	0	1	0	3	0	1	0	4	2	2	5	4	2	3	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:6632981T>C	ENST00000299424.4	-	2	778	c.301A>G	c.(301-303)Agc>Ggc	p.S101G	TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	101					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGGCCGCGCTCGGCAGTACG	0.637													3	15					0	0	0	0	C	6632981	T	C	6632981	3	2	99	1	0	0	0	0	1	0	0	0	15605	1551	54	5	371	5	TAF10	11	6632981	Missense_Mutation	SNP	T	TCGA-CN-6020-01A-11D-1683-08	5529716	6632981	128373535	105	19044											
OR10A3	26496	broad.mit.edu	37	chr11	7960482	7960482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgtgaaggcatagatttCaaataagaaggtgtctgcac	13	10	11	7	0	2	3	1	1	1	2	2	3	2	3	1	2	1	2	1	2	5	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:7960482C>G	ENST00000360759.3	-	1	659	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCATAGATTTCAAATAAGAAG	0.418													9	75					0	0	0	0	G	7960482	C	G	7960482	3	3	99	1	0	0	0	0	1	0	0	0	10962	835	29	2	361	2	OR10A3	11	7960482	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	1327501	7960482	127046034	106	19045											
HPS5	11234	broad.mit.edu	37	chr11	18318517	18318517	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgataaataccagagtccaaGatgctgaaactttcctaaaa	17	9	6	9	1	0	3	0	1	0	2	2	4	2	3	3	0	3	1	3	0	7	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:18318517G>C	ENST00000396253.3	-	11	1458	c.996C>G	c.(994-996)atC>atG	p.I332M	HPS5_ENST00000438420.2_Missense_Mutation_p.I332M|HPS5_ENST00000531848.1_Missense_Mutation_p.I332M|HPS5_ENST00000349215.3_Missense_Mutation_p.I446M	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	446						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAGAGTCCAAGATGCTGAAAC	0.343									Hermansky-Pudlak syndrome				8	57					0	0	0	0	C	18318517	G	C	18318517	3	2	99	1	0	0	0	0	1	0	0	0	7392	932	33	2	2099	2	HPS5	11	18318517	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	10358035	18318517	116687999	107	19046											
CCDC34	91057	broad.mit.edu	37	chr11	27362288	27362288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagctctttgcagctggacGaggtttatgtttcgcatttt	7	17	10	7	2	1	0	0	0	1	0	2	2	1	1	0	2	3	6	0	2	2	7			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:27362288G>A	ENST00000328697.6	-	5	1535	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	288										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						GCAGCTGGACGAGGTTTATGT	0.348													6	88					0	0	0	0	A	27362288	G	A	27362288	3	1	99	1	0	0	0	0	1	0	0	0	2833	1058	37	1	267	1	CCDC34	11	27362288	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	9043771	27362288	107644228	108	19047											
NUP160	23279	broad.mit.edu	37	chr11	47823375	47823375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtaccttgtcataataCtgcagcctgggggtagacac	10	11	11	9	0	1	2	1	1	0	1	1	2	1	2	2	2	4	3	2	2	4	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:47823375C>A	ENST00000378460.2	-	23	2929	c.2883G>T	c.(2881-2883)caG>caT	p.Q961H	NUP160_ENST00000530326.1_Missense_Mutation_p.Q847H|NUP160_ENST00000528071.1_Missense_Mutation_p.Q847H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	961					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TGTCATAATACTGCAGCCTGG	0.423													7	43					0.00198382	0.00204023	1	0	A	47823375	C	A	47823375	3	1	99	1	0	0	0	0	1	0	0	0	10828	564	20	4	1483	4	NUP160	11	47823375	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	20461087	47823375	87183141	109	19048											
OR4S2	219431	broad.mit.edu	37	chr11	55418983	55419001	+	Frame_Shift_Del	DEL	GGTACCATTGCTCTGGGGA	GGTACCATTGCTCTGGGGA	-																															ttgttgtgacagccaacagtGgtaccattgctctggggagt																								rs139625934	byFrequency	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:55418983_55419001delGGTACCATTGCTCTGGGGA	ENST00000312422.2	+	1	604_622	c.604_622delGGTACCATTGCTCTGGGGA	c.(604-624)gtfs	p.GTIALGS202fs		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T203T(1)		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)				AGCCAACAGTGGTACCATTGCTCTGGGGAGTTTTGTTAT	0.475													18	127	---	---	---	---					-	55419001	GGTACCATTGCTCTGGGGA	-	55418983	7	5	99	1	0	1	0	1	0	0	0	0	11154	1348	47	0	606	0	OR4S2	11	55418983	Frame_Shift_Del	DEL	GGTACCATTGCTCTGGGGA	TCGA-CN-6020-01A-11D-1683-08	7595608	55418983	79587533	110	19049											
FAM111A	63901	broad.mit.edu	37	chr11	58919457	58919457	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgagaatagtagcttatatAtggctctcaacactctccag	12	12	8	9	0	2	1	1	1	2	1	4	2	2	1	1	1	2	3	1	1	7	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:58919457A>T	ENST00000528737.1	+	5	3134	c.316A>T	c.(316-318)Atg>Ttg	p.M106L	FAM111A_ENST00000420244.1_Missense_Mutation_p.M106L|FAM111A_ENST00000533703.1_Missense_Mutation_p.M106L|FAM111A_ENST00000361723.3_Missense_Mutation_p.M106L|FAM111A_ENST00000531147.1_Missense_Mutation_p.M106L			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	106					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TAGCTTATATATGGCTCTCAA	0.403													6	41					0	0	0	0	T	58919457	A	T	58919457	3	4	99	1	0	0	0	0	1	0	0	0	5440	449	16	5	322	5	FAM111A	11	58919457	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08	3500474	58919457	76087059	111	19050											
BSCL2	26580	broad.mit.edu	37	chr11	62458142	62458142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggctgctgatctggtttCtcctcctcggacagctgacc	5	11	12	13	1	2	2	0	2	2	0	5	3	3	3	3	4	2	4	3	4	0	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:62458142C>T	ENST00000278893.7	-	9	1059	c.842G>A	c.(841-843)aGa>aAa	p.R281K	BSCL2_ENST00000403550.1_Silent_p.E328E|BSCL2_ENST00000405837.1_Silent_p.E394E|BSCL2_ENST00000421906.1_Silent_p.E328E|BSCL2_ENST00000433053.1_Silent_p.E392E|BSCL2_ENST00000407022.3_Silent_p.E328E|BSCL2_ENST00000360796.5_Silent_p.E392E|RP11-831H9.16_ENST00000403734.2_3'UTR	NM_001130702.2	NP_001124174.2	Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	0					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GATCTGGTTTCTCCTCCTCGG	0.612													5	119					0	0	0	0	T	62458142	C	T	62458142	3	4	99	1	0	0	0	0	1	0	0	0	1535	912	32	2	220	2	BSCL2	11	62458142	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	3538685	62458142	72548374	112	19051											
PITPNM1	9600	broad.mit.edu	37	chr11	67262617	67262617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagaggtggggcagcgtGacggtgggaaaggcggtgag	9	5	23	4	3	0	3	0	2	0	1	0	5	0	5	0	8	1	1	0	8	2	0			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:67262617G>A	ENST00000356404.3	-	17	2787	c.2562C>T	c.(2560-2562)gtC>gtT	p.V854V	PITPNM1_ENST00000436757.2_Silent_p.V853V|PITPNM1_ENST00000534749.1_Silent_p.V854V	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	854	DDHD.				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGGCAGCGTGACGGTGGGAA	0.667													4	56					0	0	0	0	A	67262617	G	A	67262617	2	1	99	1	0	0	0	0	0	0	0	1	12022	1277	45	2		2	PITPNM1	11	67262617	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	4804475	67262617	67743899	113	19052											
PDE2A	5138	broad.mit.edu	37	chr11	72292985	72292985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtcctgcagcatgctcaGgatggcctggagagggcaga	9	7	15	10	0	1	2	1	0	0	2	2	4	2	3	2	4	3	4	2	4	0	0			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:72292985G>A	ENST00000334456.5	-	22	2103	c.1858C>T	c.(1858-1860)Ctg>Ttg	p.L620L	PDE2A_ENST00000540345.1_Silent_p.L611L|PDE2A_ENST00000544570.1_Silent_p.L613L|PDE2A_ENST00000444035.2_Silent_p.L611L|PDE2A_ENST00000418754.2_Silent_p.L505L|PDE2A_ENST00000376450.3_Silent_p.L364L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	620					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AGCATGCTCAGGATGGCCTGG	0.577													8	89					0	0	0	0	A	72292985	G	A	72292985	2	1	99	1	0	0	0	0	0	0	0	1	11707	991	35	4		4	PDE2A	11	72292985	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	5030368	72292985	62713531	114	19053											
DLG2	1740	broad.mit.edu	37	chr11	83585526	83585526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagttgcggtgctatgttggGaatgactgcaagaaaagaca	13	9	14	5	1	0	3	0	1	0	2	0	5	0	4	0	2	3	4	0	2	5	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:83585526G>A	ENST00000398309.2	-	11	1657	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	DLG2_ENST00000376104.2_Missense_Mutation_p.S501F|DLG2_ENST00000532653.1_Missense_Mutation_p.S396F|DLG2_ENST00000543673.1_Missense_Mutation_p.S501F|DLG2_ENST00000418306.2_Missense_Mutation_p.S293F|DLG2_ENST00000330014.6_Missense_Mutation_p.S335F|DLG2_ENST00000537455.1_Missense_Mutation_p.S150F|DLG2_ENST00000398301.2_Missense_Mutation_p.S435F|DLG2_ENST00000531015.1_Missense_Mutation_p.S363F|DLG2_ENST00000524982.1_Missense_Mutation_p.S396F|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.S435F	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	396						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCTATGTTGGGAATGACTGCA	0.368													9	32					0	0	0	0	A	83585526	G	A	83585526	3	1	99	1	0	0	0	0	1	0	0	0	4592	1174	41	2	1527	2	DLG2	11	83585526	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	11292541	83585526	51420990	115	19054											
FAT3	120114	broad.mit.edu	37	chr11	92577460	92577460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtggagcagttggtgcatGagatgctgcagaacactgtc	10	10	14	7	0	0	2	0	1	0	2	1	4	0	3	0	2	5	5	0	2	1	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:92577460G>A	ENST00000298047.6	+	18	10944	c.10927G>A	c.(10927-10929)Gag>Aag	p.E3643K	FAT3_ENST00000409404.2_Missense_Mutation_p.E3643K|FAT3_ENST00000525166.1_Missense_Mutation_p.E3493K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3643	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTGGTGCATGAGATGCTGCA	0.562										TCGA Ovarian(4;0.039)			9	102					0	0	0	0	A	92577460	G	A	92577460	3	1	99	1	0	0	0	0	1	0	0	0	5736	1291	45	2	10997	2	FAT3	11	92577460	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	8991934	92577460	42429056	116	19055											
SPATA19	219938	broad.mit.edu	37	chr11	133712445	133712445	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctcacttggcacttggaaGatacgagtgtggctgcaaaa	12	10	11	8	1	1	1	1	0	1	1	2	3	1	2	0	3	2	3	0	3	4	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:133712445G>A	ENST00000299140.3	-	5	426	c.372C>T	c.(370-372)atC>atT	p.I124I	SPATA19_ENST00000532889.1_Silent_p.I124I	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	124					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GCACTTGGAAGATACGAGTGT	0.468													5	61					0	0	0	0	A	133712445	G	A	133712445	2	1	99	1	0	0	0	0	0	0	0	1	15094	932	33	2		2	SPATA19	11	133712445	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	41134985	133712445	1294071	117	19056											
WNK1	65125	broad.mit.edu	37	chr12	988982	988982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctggcattactcagcctCtgctcacgttggcttcatct	6	13	8	14	1	5	0	3	0	2	0	5	0	5	0	1	2	4	5	1	2	1	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:988982C>T	ENST00000315939.6	+	11	3260	c.2617C>T	c.(2617-2619)Ctg>Ttg	p.L873L	WNK1_ENST00000340908.4_Silent_p.L466L|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Silent_p.L1371L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	873					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TACTCAGCCTCTGCTCACGTT	0.532													18	76					0	0	0	0	T	988982	C	T	988982	2	4	99	1	0	0	0	0	0	0	0	1	17473	912	32	2		2	WNK1	12	988982	Silent	SNP	C	TCGA-CN-6020-01A-11D-1683-08		988982	132862913	118	19057											
CD163	9332	broad.mit.edu	37	chr12	7653982	7653982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacacaccgttccccactcCtcctggactttcacttccac	7	12	3	19	1	1	0	1	0	0	0	5	1	5	1	6	1	1	1	6	1	1	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:7653982C>T	ENST00000359156.4	-	3	412	c.210G>A	c.(208-210)gaG>gaA	p.E70E	CD163_ENST00000541972.1_Silent_p.E58E|CD163_ENST00000432237.2_Silent_p.E70E|CD163_ENST00000396620.3_Silent_p.E70E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	70	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTCCCCACTCCTCCTGGACTT	0.507													10	60					0	0	0	0	T	7653982	C	T	7653982	2	4	99	1	0	0	0	0	0	0	0	1	2996	680	24	4		4	CD163	12	7653982	Silent	SNP	C	TCGA-CN-6020-01A-11D-1683-08	6665000	7653982	126197913	119	19058											
A2ML1	144568	broad.mit.edu	37	chr12	9001323	9001323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcttgtcccaggtctatgGgatgtttccattctggtatg	5	16	10	10	0	3	0	0	0	3	0	5	1	5	1	3	3	0	2	3	3	2	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:9001323G>A	ENST00000299698.7	+	16	2021	c.1841G>A	c.(1840-1842)gGg>gAg	p.G614E	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Missense_Mutation_p.G123E	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	458						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAGGTCTATGGGATGTTTCCA	0.473													19	112					0	0	0	0	A	9001323	G	A	9001323	3	1	99	1	0	0	0	0	1	0	0	0	5	1232	43	4	1903	4	A2ML1	12	9001323	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	1347341	9001323	124850572	120	19059											
GRIN2B	2904	broad.mit.edu	37	chr12	13716470	13716470	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgcacgcctgcctgccCgagttctgacccgtcaccgt	5	8	11	17	5	2	1	1	1	1	0	2	3	2	2	5	1	3	2	5	1	0	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:13716470C>A	ENST00000279593.3	-	13	3911	c.3702G>T	c.(3700-3702)tcG>tcT	p.S1234S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1234					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1234S(3)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTGCCTGCCCGAGTTCTGAC	0.617													5	55					3.59834e-05	3.8465e-05	1	0	A	13716470	C	A	13716470	2	1	99	1	0	0	0	0	0	0	0	1	6830	639	23	3		3	GRIN2B	12	13716470	Silent	SNP	C	TCGA-CN-6020-01A-11D-1683-08	4715147	13716470	120135425	121	19060											
MGP	4256	broad.mit.edu	37	chr12	15035947	15035947	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctctgctgaggggatatGaaggtatttgcatttctcct	8	15	10	8	0	2	2	0	2	2	0	4	3	2	3	1	3	2	3	1	3	3	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:15035947G>A	ENST00000539261.1	-	3	263	c.129C>T	c.(127-129)ttC>ttT	p.F43F	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Silent_p.F68F	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	43					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						GAGGGGATATGAAGGTATTTG	0.383													7	60					0	0	0	0	A	15035947	G	A	15035947	2	1	99	1	0	0	0	0	0	0	0	1	9627	1281	45	2		2	MGP	12	15035947	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	1319477	15035947	118815948	122	19061											
LRRK2	120892	broad.mit.edu	37	chr12	40643742	40643742	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctcagctgtttggcccTcctcagtaagtaacttcact	8	12	8	13	1	3	0	3	0	0	0	4	0	4	0	2	1	3	5	2	1	2	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:40643742T>A	ENST00000298910.7	+	8	1011	c.953T>A	c.(952-954)cTc>cAc	p.L318H	LRRK2_ENST00000343742.2_Missense_Mutation_p.L318H	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	318					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGTTTGGCCCTCCTCAGTAAG	0.423													3	28					0	0	0	0	A	40643742	T	A	40643742	3	1	99	1	0	0	0	0	1	0	0	0	9097	1551	54	5	983	5	LRRK2	12	40643742	Missense_Mutation	SNP	T	TCGA-CN-6020-01A-11D-1683-08	25607795	40643742	93208153	123	19062											
PDZRN4	29951	broad.mit.edu	37	chr12	41967396	41967396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgagatgaaaatggggCgctactggagcaaagaggag	14	5	17	5	2	0	4	0	2	0	2	0	7	0	6	0	4	3	2	0	4	4	1	rs144265671		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:41967396C>T	ENST00000298919.7	+	10	2423	c.2035C>T	c.(2035-2037)Cgc>Tgc	p.R679C	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R681C|PDZRN4_ENST00000402685.2_Missense_Mutation_p.R939C			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	939							ubiquitin-protein ligase activity|zinc ion binding	p.R681C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAAATGGGGCGCTACTGGAG	0.542													9	31					0	0	0	0	T	41967396	C	T	41967396	3	4	99	1	0	0	0	0	1	0	0	0	11781	768	27	1	2926	1	PDZRN4	12	41967396	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	1323654	41967396	91884499	124	19063											
CACNB3	784	broad.mit.edu	37	chr12	49221458	49221458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggccagcgagagctccCgccaagcctggacaggatct	10	5	13	13	2	1	2	0	1	1	1	2	5	2	4	4	3	3	1	4	3	1	0	rs146819236		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:49221458C>T	ENST00000301050.2	+	13	1430	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	CACNB3_ENST00000547392.1_Missense_Mutation_p.R384C|CACNB3_ENST00000536187.2_Missense_Mutation_p.R410C|CACNB3_ENST00000540990.1_Missense_Mutation_p.R398C|CACNB3_ENST00000547230.1_Missense_Mutation_p.R370C	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	411					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CGAGAGCTCCCGCCAAGCCTG	0.647													7	41					0	0	0	0	T	49221458	C	T	49221458	3	4	99	1	0	0	0	0	1	0	0	0	2579	652	23	1	1281	1	CACNB3	12	49221458	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	7254062	49221458	84630437	125	19064											
TROAP	10024	broad.mit.edu	37	chr12	49721061	49721061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaggtgtggcctctcttgGtctggcccagcgagtaccat	6	10	14	11	1	2	0	0	0	2	0	3	2	2	1	3	5	2	1	3	5	1	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:49721061G>A	ENST00000551245.1	+	8	950	c.839G>A	c.(838-840)gGt>gAt	p.G280D	TROAP_ENST00000547923.1_5'UTR|TROAP_ENST00000257909.3_Missense_Mutation_p.G280D			Q12815	TROAP_HUMAN	trophinin associated protein	280					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCTCTCTTGGTCTGGCCCAG	0.512													12	61					0	0	0	0	A	49721061	G	A	49721061	3	1	99	1	0	0	0	0	1	0	0	0	16670	1261	44	4	967	4	TROAP	12	49721061	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	499603	49721061	84130834	126	19065											
KRT73	319101	broad.mit.edu	37	chr12	53012018	53012018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacccccgggcgggcacaaCgacggacacacggaccccaa	12	1	11	17	5	0	0	0	0	0	0	0	3	0	2	4	4	2	1	4	4	3	1	rs142655706	byFrequency	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:53012018C>T	ENST00000305748.3	-	1	325	c.291G>A	c.(289-291)tcG>tcA	p.S97S		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	97	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGGCACAACGACGGACACA	0.637													12	111					0	0	0	0	T	53012018	C	T	53012018	2	4	99	1	0	0	0	0	0	0	0	1	8538	523	19	1		1	KRT73	12	53012018	Silent	SNP	C	TCGA-CN-6020-01A-11D-1683-08	3290957	53012018	80839877	127	19066											
CPSF6	11052	broad.mit.edu	37	chr12	69652584	69652584	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacctccagttccaggctaCggcccccctcctggcccacc	5	6	7	23	1	0	0	0	0	0	0	3	0	3	0	10	3	1	2	10	3	1	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:69652584C>T	ENST00000435070.2	+	6	1019	c.909C>T	c.(907-909)taC>taT	p.Y303Y	CPSF6_ENST00000266679.8_Silent_p.Y340Y|CPSF6_ENST00000456847.3_Silent_p.Y230Y|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	303	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TTCCAGGCTACGGCCCCCCTC	0.637													6	69					0	0	0	0	T	69652584	C	T	69652584	2	4	99	1	0	0	0	0	0	0	0	1	3859	547	19	1		1	CPSF6	12	69652584	Silent	SNP	C	TCGA-CN-6020-01A-11D-1683-08	16640566	69652584	64199311	128	19067											
PTPRB	5787	broad.mit.edu	37	chr12	70929923	70929923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagtgacaatgtattctCttctgaagttgttgccctgc	7	15	9	10	0	2	3	0	3	2	0	3	3	2	3	2	0	2	3	2	0	3	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:70929923C>A	ENST00000334414.6	-	29	6007	c.5963G>T	c.(5962-5964)aGa>aTa	p.R1988I	PTPRB_ENST00000550857.1_Missense_Mutation_p.R1680I|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1900I|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1680I|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1770I|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1680I|RP11-588H23.3_ENST00000547656.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1770					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AATGTATTCTCTTCTGAAGTT	0.428													3	23					2.56e-06	2.8199e-06	1	0	A	70929923	C	A	70929923	3	1	99	1	0	0	0	0	1	0	0	0	12878	913	32	2	708	2	PTPRB	12	70929923	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	1277339	70929923	62921972	129	19068											
TMEM132B	114795	broad.mit.edu	37	chr12	126128737	126128737	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagttcgaggtcactgtctGggcacccaggctccccctgc	5	8	11	17	1	2	0	1	0	1	0	4	1	3	0	4	3	1	3	4	3	0	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:126128737G>A	ENST00000299308.3	+	6	1546	c.1538G>A	c.(1537-1539)tGg>tAg	p.W513*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.W25*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	513						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTCACTGTCTGGGCACCCAGG	0.537													5	44					0	0	0	0	A	126128737	G	A	126128737	4	1	99	1	0	0	0	0	0	1	0	0	16140	1357	47	4	1560	4	TMEM132B	12	126128737	Nonsense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	55198814	126128737	7723158	130	19069											
PCDH20	64881	broad.mit.edu	37	chr13	61985826	61985826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttccaaagtaatgttGccagttttagggtcaatcct	9	14	8	10	0	2	0	1	0	1	0	4	0	4	0	4	1	1	3	4	1	4	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr13:61985826G>A	ENST00000409186.1	-	5	4511	c.2406C>T	c.(2404-2406)ggC>ggT	p.G802G	PCDH20_ENST00000409204.4_Silent_p.G802G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	775	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AAGTAATGTTGCCAGTTTTAG	0.488													13	58					0	0	0	0	A	61985826	G	A	61985826	2	1	99	1	0	0	0	0	0	0	0	1	11586	1306	46	4		4	PCDH20	13	61985826	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08		61985826	53184052	131	19070											
OR11H6	122748	broad.mit.edu	37	chr14	20692714	20692714	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtatgtgagcccaacatcAgggaacccagcaggaatgca	14	6	11	10	0	1	1	1	1	0	0	1	3	1	3	2	2	5	3	2	2	4	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr14:20692714A>T	ENST00000315519.2	+	1	924	c.846A>T	c.(844-846)tcA>tcT	p.S282S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCCCAACATCAGGGAACCCAG	0.448													5	71					0	0	0	0	T	20692714	A	T	20692714	2	4	99	1	0	0	0	0	0	0	0	1	11000	175	7	5		5	OR11H6	14	20692714	Silent	SNP	A	TCGA-CN-6020-01A-11D-1683-08		20692714	86656826	132	19071											
ASB2	51676	broad.mit.edu	37	chr14	94417436	94417436	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcgttcttggattccacCttggctcctccgctcaccag	5	12	9	15	2	2	0	1	0	1	0	5	1	5	1	5	3	0	3	5	3	1	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr14:94417436C>T	ENST00000555019.1	-	6	1219	c.789G>A	c.(787-789)aaG>aaA	p.K263K	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Silent_p.K215K	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	215					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGGATTCCACCTTGGCTCCTC	0.607													8	98					0	0	0	0	T	94417436	C	T	94417436	2	4	99	1	0	0	0	0	0	0	0	1	1027	680	24	4		4	ASB2	14	94417436	Silent	SNP	C	TCGA-CN-6020-01A-11D-1683-08	73724722	94417436	12932104	133	19072											
HERC2	8924	broad.mit.edu	37	chr15	28386662	28386662	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcaagggcttcacagggAgtgggaactttgacttttgc	8	12	14	7	0	1	1	1	1	0	0	1	3	1	3	0	3	3	3	0	3	2	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:28386662A>C	ENST00000261609.7	-	78	12039	c.11931T>G	c.(11929-11931)acT>acG	p.T3977T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3977					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCACAGGGAGTGGGAACTT	0.537													4	61					0	0	0	0	C	28386662	A	C	28386662	2	2	99	1	0	0	0	0	0	0	0	1	7108	291	11	5		5	HERC2	15	28386662	Silent	SNP	A	TCGA-CN-6020-01A-11D-1683-08		28386662	74144730	134	19073											
TRPM1	4308	broad.mit.edu	37	chr15	31323321	31323321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactccgaaactcatgagcaCgaccagcatgatgaccacaa	15	6	7	13	2	1	3	1	3	0	0	2	5	2	3	3	0	4	2	3	0	3	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:31323321C>T	ENST00000542188.1	-	22	3356	c.3043G>A	c.(3043-3045)Gtg>Atg	p.V1015M	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.V976M|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.V998M	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	976					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCATGAGCACGACCAGCATG	0.507													13	62					0	0	0	0	T	31323321	C	T	31323321	3	4	99	1	0	0	0	0	1	0	0	0	16680	536	19	1	1909	1	TRPM1	15	31323321	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	2936659	31323321	71208071	135	19074											
THBS1	7057	broad.mit.edu	37	chr15	39874946	39874946	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggggggcgtcaatgacaAtttccaggtgaggcttcttc	10	10	13	8	1	2	2	1	2	1	0	4	2	3	2	1	5	0	1	1	5	3	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:39874946A>G	ENST00000260356.5	+	3	785	c.620A>G	c.(619-621)aAt>aGt	p.N207S		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	207	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GTCAATGACAATTTCCAGGTG	0.552													3	30					0	0	0	0	G	39874946	A	G	39874946	3	3	99	1	0	0	0	0	1	0	0	0	15947	101	4	5	626	5	THBS1	15	39874946	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08	8551625	39874946	62656446	136	19075											
CGNL1	84952	broad.mit.edu	37	chr15	57734631	57734631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtctttgagaaaatccaGaccttaaagtctcgagcagc	12	11	9	9	1	2	2	0	1	2	2	4	4	3	2	2	1	2	1	2	1	4	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:57734631G>C	ENST00000281282.5	+	4	1836	c.1758G>C	c.(1756-1758)caG>caC	p.Q586H		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	586						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGAAAATCCAGACCTTAAAGT	0.408													14	52					0	0	0	0	C	57734631	G	C	57734631	3	2	99	1	0	0	0	0	1	0	0	0	3333	933	33	2	1768	2	CGNL1	15	57734631	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	17859685	57734631	44796761	137	19076											
HEXA	3073	broad.mit.edu	37	chr15	72668095	72668095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggggccaagacccggaaccGaaaagcaggtcacgatagcg	13	2	14	12	5	1	1	1	0	0	1	1	4	1	2	3	4	3	1	3	4	5	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:72668095G>A	ENST00000268097.5	-	1	722	c.219C>T	c.(217-219)ttC>ttT	p.F73F	HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000566304.1_Silent_p.F73F|HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000567159.1_Silent_p.F73F|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000457859.2_5'UTR	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	73					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ACCCGGAACCGAAAAGCAGGT	0.627													24	161					0	0	0	0	A	72668095	G	A	72668095	2	1	99	1	0	0	0	0	0	0	0	1	7123	1049	37	1		1	HEXA	15	72668095	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	14933464	72668095	29863297	138	19077											
CLK3	1198	broad.mit.edu	37	chr15	74919948	74919948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttggcagtgccacatttgaCcatgagcaccacaccaccat	11	9	7	14	0	0	2	0	2	0	0	0	2	0	2	5	1	2	2	5	1	0	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:74919948C>A	ENST00000395066.3	+	9	1886	c.1425C>A	c.(1423-1425)gaC>gaA	p.D475E	CLK3_ENST00000345005.4_Missense_Mutation_p.D327E|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000352989.5_Missense_Mutation_p.D304E	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	475	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CCACATTTGACCATGAGCACC	0.562													33	110					9.17885e-22	1.08251e-21	1	0	A	74919948	C	A	74919948	3	1	99	1	0	0	0	0	1	0	0	0	3568	506	18	4	1459	4	CLK3	15	74919948	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	2251853	74919948	27611444	139	19078											
BTBD1	53339	broad.mit.edu	37	chr15	83718833	83718833	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagcgaacttacctatatcaAtatcagtaaacccttctgca	14	12	4	11	1	3	0	2	0	1	0	3	1	3	0	2	0	5	2	2	0	9	7			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:83718833A>T	ENST00000261721.4	-	3	858	c.656T>A	c.(655-657)aTt>aAt	p.I219N	RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.I219N|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	219						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ACCTATATCAATATCAGTAAA	0.358													6	45					0	0	0	0	T	83718833	A	T	83718833	3	4	99	1	0	0	0	0	1	0	0	0	1545	101	4	5	816	5	BTBD1	15	83718833	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08	8798885	83718833	18812559	140	19079											
PKD1	5310	broad.mit.edu	37	chr16	2166554	2166554	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgggctcgtgcggggctgaGaggccgtcctgctgtgccag	4	7	18	12	4	0	1	0	1	0	1	2	2	1	1	3	4	3	3	3	4	0	0			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr16:2166554G>A	ENST00000262304.4	-	8	1906	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L	PKD1_ENST00000423118.1_Silent_p.L566L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	566					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGGGGCTGAGAGGCCGTCCT	0.711													2	2					0	0	0	0	A	2166554	G	A	2166554	2	1	99	1	0	0	0	0	0	0	0	1	12035	929	33	2		2	PKD1	16	2166554	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08		2166554	88188199	141	19080											
SMG1	23049	broad.mit.edu	37	chr16	18840818	18840819	+	Frame_Shift_Del	DEL	TT	TT	-																															cagagatcatcaacagaaacTttgctttcggcaccaaagtc																										TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr16:18840818_18840819delTT	ENST00000446231.2	-	54	9804_9805	c.9392_9393delAA	c.(9391-9393)afs	p.K3131fs	SMG1_ENST00000389467.3_Frame_Shift_Del_p.K3131fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3131					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAACAGAAACTTTGCTTTCGGC	0.465													10	49	---	---	---	---					-	18840819	TT	-	18840818	7	5	99	1	0	1	0	1	0	0	0	0	14883	1606	56	0	1632	0	SMG1	16	18840818	Frame_Shift_Del	DEL	TT	TCGA-CN-6020-01A-11D-1683-08	16674264	18840818	71513935	142	19081											
MMP2	4313	broad.mit.edu	37	chr16	55530841	55530841	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttgcctcctgccaggttCatttggcggactgtgacgcc	4	11	11	15	2	1	1	1	1	0	0	2	2	2	2	5	3	2	1	5	3	0	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr16:55530841C>T	ENST00000219070.4	+	10	1985	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	MMP2_ENST00000437642.2_Silent_p.F442F|MMP2_ENST00000570308.1_Silent_p.F416F|MMP2_ENST00000543485.1_Silent_p.F416F	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	492	Hemopexin-like 1.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CTGCCAGGTTCATTTGGCGGA	0.592													6	65					0	0	0	0	T	55530841	C	T	55530841	2	4	99	1	0	0	0	0	0	0	0	1	9727	825	29	2		2	MMP2	16	55530841	Silent	SNP	C	TCGA-CN-6020-01A-11D-1683-08	36690023	55530841	34823912	143	19082											
CDH5	1003	broad.mit.edu	37	chr16	66432402	66432402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacaaggacataacaccacGaaacgtgaagttcaaattca	19	6	7	9	2	2	2	2	1	0	1	2	4	2	3	1	1	2	1	1	1	5	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr16:66432402G>A	ENST00000341529.3	+	10	1677	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	510	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ATAACACCACGAAACGTGAAG	0.488													3	43					0	0	0	0	A	66432402	G	A	66432402	3	1	99	1	0	0	0	0	1	0	0	0	3142	1058	37	1	1563	1	CDH5	16	66432402	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	10901561	66432402	23922351	144	19083											
GLG1	2734	broad.mit.edu	37	chr16	74537551	74537551	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcttggtaatgtactGgtgacactgatactcagtga	10	13	10	8	1	3	3	2	3	1	0	3	3	3	3	0	2	2	2	0	2	3	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr16:74537551G>A	ENST00000422840.2	-	4	651	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	GLG1_ENST00000205061.5_Nonsense_Mutation_p.Q218*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.Q207*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	218						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTAATGTACTGGTGACACTGA	0.423													21	104					0	0	0	0	A	74537551	G	A	74537551	4	1	99	1	0	0	0	0	0	1	0	0	6487	1357	47	4	3059	4	GLG1	16	74537551	Nonsense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	8105149	74537551	15817202	145	19084											
TP53	7157	broad.mit.edu	37	chr17	7578177	7578177	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagttgcaaaccagacCtcaggcggctcatagggcac	11	5	10	15	1	2	1	2	0	0	1	2	1	2	1	4	3	2	4	4	3	2	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:7578177C>A	ENST00000420246.2	-	6	804	c.672_splice	c.e6+1	p.E224_splice	TP53_ENST00000269305.4_Splice_Site_p.E224_splice|TP53_ENST00000359597.4_Splice_Site_p.E224_splice|TP53_ENST00000445888.2_Splice_Site_p.E224_splice|TP53_ENST00000413465.2_Splice_Site_p.E224_splice|TP53_ENST00000455263.2_Splice_Site_p.E224_splice|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	224	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAACCAGACCTCAGGCGGCT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	6					5.18039e-06	5.6775e-06	1	0	A	7578177	C	A	7578177	5	1	99	1	0	0	0	0	0	0	1	0	16476	695	24	4	622	4	TP53	17	7578177	Splice_Site	SNP	C	TCGA-CN-6020-01A-11D-1683-08		7578177	73617033	146	19085											
MYH1	4619	broad.mit.edu	37	chr17	10418213	10418213	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatagactgattctcccgatCtagaagaaaaacagtggaaa	17	8	9	7	1	2	4	0	1	2	3	3	7	2	5	1	1	1	0	1	1	6	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:10418213C>G	ENST00000226207.5	-	6	600		c.e6-1		CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult							muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCTCCCGATCTAGAAGAAAA	0.328													3	80					0	0	0	0	G	10418213	C	G	10418213	5	3	99	1	0	0	0	0	0	0	1	0	10099	927	32	2	5454	2	MYH1	17	10418213	Splice_Site	SNP	C	TCGA-CN-6020-01A-11D-1683-08	2840036	10418213	70776997	147	19086											
GAS2L2	246176	broad.mit.edu	37	chr17	34073141	34073141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctgggccaaaggaacgagGcaggggagatggtcctcttg	9	6	18	8	1	1	1	0	0	1	1	2	4	2	2	2	7	1	2	2	7	2	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:34073141G>A	ENST00000254466.6	-	6	1402	c.1375C>T	c.(1375-1377)Cct>Tct	p.P459S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P443S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	459					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGGAACGAGGCAGGGGAGAT	0.632													21	99					0	0	0	0	A	34073141	G	A	34073141	3	1	99	1	0	0	0	0	1	0	0	0	6296	1203	42	4	1271	4	GAS2L2	17	34073141	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	23654928	34073141	47122069	148	19087											
OR4D1	26689	broad.mit.edu	37	chr17	56233093	56233093	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgcctgcactgatacctcCctcctggagttcctcatgat	6	13	7	15	0	1	2	1	2	0	0	4	3	4	3	5	1	3	2	5	1	1	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:56233093C>T	ENST00000268912.5	+	1	600	c.579C>T	c.(577-579)tcC>tcT	p.S193S		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGATACCTCCCTCCTGGAGT	0.493													36	48					0	0	0	0	T	56233093	C	T	56233093	2	4	99	1	0	0	0	0	0	0	0	1	11124	610	22	4		4	OR4D1	17	56233093	Silent	SNP	C	TCGA-CN-6020-01A-11D-1683-08	22159952	56233093	24962117	149	19088											
MIF4GD	57409	broad.mit.edu	37	chr17	73264171	73264171	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacccccaacctgaatgAtggcgtagcacatgcgtcct	10	7	8	16	2	0	2	0	2	0	0	1	2	1	2	5	1	4	2	5	1	4	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:73264171A>T	ENST00000577542.1	-	4	570	c.308T>A	c.(307-309)aTc>aAc	p.I103N	MIF4GD_ENST00000325102.8_Missense_Mutation_p.I62N|MIF4GD_ENST00000580571.1_Missense_Mutation_p.I62N|MIF4GD_ENST00000579297.1_Missense_Mutation_p.I103N|MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000245551.5_Missense_Mutation_p.I96N|MIF4GD_ENST00000579119.1_Missense_Mutation_p.I62N			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	62	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AACCTGAATGATGGCGTAGCA	0.562													6	42					0	0	0	0	T	73264171	A	T	73264171	3	4	99	1	0	0	0	0	1	0	0	0	9653	333	12	5	499	5	MIF4GD	17	73264171	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08	17031078	73264171	7931039	150	19089											
DNAH17	8632	broad.mit.edu	37	chr17	76420210	76420210	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gccgcgcttcagcgatgactCcagtctgggtgtcccagcga	6	8	13	14	4	2	1	1	1	1	0	4	3	4	1	3	1	2	1	3	1	0	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:76420210C>G	ENST00000389840.5	-	81	13359	c.13235G>C	c.(13234-13236)gGa>gCa	p.G4412A	PGS1_ENST00000262764.6_3'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.G4384A|PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_3'UTR|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCGATGACTCCAGTCTGGGT	0.607													7	34					0	0	0	0	G	76420210	C	G	76420210	3	3	99	1	0	0	0	0	1	0	0	0	4638	855	30	2	226	2	DNAH17	17	76420210	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	3156039	76420210	4775000	151	19090											
CABLES1	91768	broad.mit.edu	37	chr18	20837210	20837210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaactggaagagaagttccGgctgaacaggcgagaactga	15	5	14	7	2	0	4	0	2	0	2	1	8	1	5	1	3	3	2	1	3	5	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr18:20837210G>A	ENST00000256925.7	+	10	1781	c.1781G>A	c.(1780-1782)cGg>cAg	p.R594Q	RP11-17J14.2_ENST00000585184.1_RNA|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_Missense_Mutation_p.R267Q|CABLES1_ENST00000420687.2_Missense_Mutation_p.R329Q	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	594					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAGAAGTTCCGGCTGAACAGG	0.448													8	75					0	0	0	0	A	20837210	G	A	20837210	3	1	99	1	0	0	0	0	1	0	0	0	2554	1116	39	1	1873	1	CABLES1	18	20837210	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08		20837210	57240038	152	19091											
ATP9B	374868	broad.mit.edu	37	chr18	76873289	76873289	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatctctattttctagtaAtatcctgctcacagtttgta	10	18	5	8	0	3	1	1	1	2	0	5	1	4	1	1	0	1	4	1	0	6	8			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr18:76873289A>T	ENST00000426216.2	+	4	510	c.493A>T	c.(493-495)Ata>Tta	p.I165L	ATP9B_ENST00000586722.1_Missense_Mutation_p.I165L|ATP9B_ENST00000307671.7_Missense_Mutation_p.I165L|ATP9B_ENST00000458297.2_Missense_Mutation_p.I113L|ATP9B_ENST00000591464.1_Intron	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	165					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TTTTCTAGTAATATCCTGCTC	0.294													6	34					0	0	0	0	T	76873289	A	T	76873289	3	4	99	1	0	0	0	0	1	0	0	0	1203	101	4	5	507	5	ATP9B	18	76873289	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08	56036079	76873289	1203959	153	19092											
ZNRF4	148066	broad.mit.edu	37	chr19	5456159	5456159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgagcgaggccgcctcGcaggacctgcgggtcatcct	5	8	14	14	5	1	1	1	1	0	0	4	3	2	2	4	3	2	1	4	3	0	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:5456159G>A	ENST00000222033.4	+	1	734	c.657G>A	c.(655-657)tcG>tcA	p.S219S		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	219	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		AGGCCGCCTCGCAGGACCTGC	0.667													11	77					0	0	0	0	A	5456159	G	A	5456159	2	1	99	1	0	0	0	0	0	0	0	1	18307	1074	38	1		1	ZNRF4	19	5456159	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08		5456159	53672824	154	19093											
PPAN	56342	broad.mit.edu	37	chr19	10225067	10225067	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggccctctacgccagcTcctatgtgccctaccacatc	6	10	8	17	1	1	0	0	0	1	0	3	0	2	0	5	1	4	1	5	1	3	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:10225067T>A	ENST00000556468.1	+	13	2065	c.2038T>A	c.(2038-2040)Tcc>Acc	p.S680T	P2RY11_ENST00000321826.4_Missense_Mutation_p.S260T|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.S680T					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CTACGCCAGCTCCTATGTGCC	0.677													10	78					0	0	0	0	A	10225067	T	A	10225067	3	1	99	1	0	0	0	0	1	0	0	0	12359	1551	54	5		5	PPAN	19	10225067	Missense_Mutation	SNP	T	TCGA-CN-6020-01A-11D-1683-08	4768908	10225067	48903916	155	19094											
ZNF69	7620	broad.mit.edu	37	chr19	12014459	12014459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttgctggatatttcccaGaggaaactctacaaggaagt	12	11	10	8	0	1	1	0	0	1	1	2	4	2	4	1	3	3	2	1	3	5	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:12014459G>A	ENST00000429654.2	+	2	275	c.135G>A	c.(133-135)caG>caA	p.Q45Q	ZNF69_ENST00000340180.5_Silent_p.Q31Q			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	45	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		ATATTTCCCAGAGGAAACTCT	0.478													12	88					0	0	0	0	A	12014459	G	A	12014459	2	1	99	1	0	0	0	0	0	0	0	1	18190	933	33	2		2	ZNF69	19	12014459	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	1789392	12014459	47114524	156	19095											
CPAMD8	27151	broad.mit.edu	37	chr19	17038880	17038880	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtgtgggacccccagggtGaaggcctcgctgtagctctc	5	8	14	14	2	1	1	0	1	1	0	3	2	1	2	4	3	1	3	4	3	2	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:17038880G>A	ENST00000443236.1	-	25	3481	c.3450C>T	c.(3448-3450)ttC>ttT	p.F1150F		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1103						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCCCCAGGGTGAAGGCCTCGC	0.632													6	57					0	0	0	0	A	17038880	G	A	17038880	2	1	99	1	0	0	0	0	0	0	0	1	3825	1281	45	2		2	CPAMD8	19	17038880	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	5024421	17038880	42090103	157	19096											
HAPLN4	404037	broad.mit.edu	37	chr19	19371769	19371769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctcagcccgcccacGgtagctgccgaatgcccggt	6	6	12	17	4	1	0	1	0	0	0	1	1	1	0	4	2	6	4	4	2	2	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:19371769G>A	ENST00000291481.7	-	3	400	c.337C>T	c.(337-339)Cgt>Tgt	p.R113C	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	113	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GCCCGCCCACGGTAGCTGCCG	0.677													3	57					0	0	0	0	A	19371769	G	A	19371769	3	1	99	1	0	0	0	0	1	0	0	0	7007	1116	39	1	883	1	HAPLN4	19	19371769	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	2332889	19371769	39757214	158	19097											
ZNF30	90075	broad.mit.edu	37	chr19	35435405	35435405	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatactggtaagaagccctAtgagtgtaaggagtgtggca	12	9	13	7	0	0	2	0	1	0	1	0	3	0	3	2	3	2	3	2	3	5	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:35435405A>T	ENST00000439785.1	+	5	1982	c.1538A>T	c.(1537-1539)tAt>tTt	p.Y513F	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.Y512F|ZNF30_ENST00000426813.2_Missense_Mutation_p.Y431F|ZNF30_ENST00000303586.7_Missense_Mutation_p.Y513F	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AAGAAGCCCTATGAGTGTAAG	0.423													4	27					0	0	0	0	T	35435405	A	T	35435405	3	4	99	1	0	0	0	0	1	0	0	0	17925	449	16	5	1552	5	ZNF30	19	35435405	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08	16063636	35435405	23693578	159	19098											
DMKN	93099	broad.mit.edu	37	chr19	36003956	36003956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccacagccactcacccaaGcaccattgtggccaggcacc	10	4	7	20	0	1	0	1	0	0	0	1	0	1	0	7	2	2	2	7	2	1	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:36003956G>A	ENST00000339686.3	-	1	598	c.422C>T	c.(421-423)gCt>gTt	p.A141V	DMKN_ENST00000451297.2_Missense_Mutation_p.A141V|DMKN_ENST00000419602.1_Missense_Mutation_p.A141V|DMKN_ENST00000418261.1_Missense_Mutation_p.A141V|DMKN_ENST00000447113.2_Missense_Mutation_p.A141V|DMKN_ENST00000440396.1_Missense_Mutation_p.A141V|DMKN_ENST00000429837.1_Missense_Mutation_p.A141V|DMKN_ENST00000424570.2_Missense_Mutation_p.A141V	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	141	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACTCACCCAAGCACCATTGTG	0.582													8	39					0	0	0	0	A	36003956	G	A	36003956	3	1	99	1	0	0	0	0	1	0	0	0	4619	971	34	4	1389	4	DMKN	19	36003956	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	568551	36003956	23125027	160	19099											
ZNF527	84503	broad.mit.edu	37	chr19	37879433	37879433	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaatctctactgggaaaaGagacaatgaatttagtaatt	17	11	9	4	0	1	2	0	1	1	1	2	5	1	4	0	2	1	1	0	2	8	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:37879433G>C	ENST00000436120.2	+	5	589	c.482G>C	c.(481-483)aGa>aCa	p.R161T	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTGGGAAAAGAGACAATGAA	0.383													4	83					0	0	0	0	C	37879433	G	C	37879433	3	2	99	1	0	0	0	0	1	0	0	0	18063	942	33	2	496	2	ZNF527	19	37879433	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	1875477	37879433	21249550	161	19100											
CATSPERG	57828	broad.mit.edu	37	chr19	38849158	38849158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggcatcttctgtaacccgTacaacaatctgatcttcatc	11	12	6	12	1	5	1	1	1	4	0	6	1	5	1	1	1	3	3	1	1	4	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:38849158T>C	ENST00000409235.3	+	13	1568	c.1453T>C	c.(1453-1455)Tac>Cac	p.Y485H	CATSPERG_ENST00000215069.4_Missense_Mutation_p.Y478H|CATSPERG_ENST00000410018.1_Missense_Mutation_p.Y445H	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	485					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTGTAACCCGTACAACAATCT	0.562													13	70					0	0	0	0	C	38849158	T	C	38849158	3	2	99	1	0	0	0	0	1	0	0	0	2717	1638	57	5	1499	5	CATSPERG	19	38849158	Missense_Mutation	SNP	T	TCGA-CN-6020-01A-11D-1683-08	969725	38849158	20279825	162	19101											
PNMAL2	57469	broad.mit.edu	37	chr19	46998632	46998632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcttcgacgtctgcctgctCcaggccctccgggatgccgg	3	8	14	16	4	1	0	0	0	1	0	4	2	3	1	5	4	3	2	5	4	0	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:46998632C>T	ENST00000599531.1	-	1	1123	c.91G>A	c.(91-93)Gag>Aag	p.E31K	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Missense_Mutation_p.E31K|AC011484.1_ENST00000377652.3_3'UTR	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	31										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tctgcctgctccaggccctcc	0.667													27	56					0	0	0	0	T	46998632	C	T	46998632	3	4	99	1	0	0	0	0	1	0	0	0	12230	864	30	2	1820	2	PNMAL2	19	46998632	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	8149474	46998632	12130351	163	19102											
DHX34	9704	broad.mit.edu	37	chr19	47856504	47856504	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgcagagattccagaatCtcaagacctccaggaaggag	13	6	11	11	0	1	3	1	0	1	3	4	6	3	5	4	2	1	1	4	2	3	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:47856504C>G	ENST00000328771.4	+	2	566	c.217C>G	c.(217-219)Ctc>Gtc	p.L73V		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	73						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ATTCCAGAATCTCAAGACCTC	0.537													4	111					0	0	0	0	G	47856504	C	G	47856504	3	3	99	1	0	0	0	0	1	0	0	0	4544	913	32	2	219	2	DHX34	19	47856504	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	857872	47856504	11272479	164	19103											
PEG3	5178	broad.mit.edu	37	chr19	57327205	57327205	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcttctgtcgcttatcatTaaggtctgagatataaatgg	12	15	8	6	1	4	1	1	1	3	1	5	2	4	1	0	2	0	1	0	2	6	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:57327205T>G	ENST00000326441.9	-	10	2968	c.2605A>C	c.(2605-2607)Aat>Cat	p.N869H	PEG3_ENST00000598410.1_Missense_Mutation_p.N745H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.N743H|PEG3_ENST00000423103.2_Missense_Mutation_p.N869H|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	869					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGCTTATCATTAAGGTCTGAG	0.438													9	76					0	0	0	0	G	57327205	T	G	57327205	3	3	99	1	0	0	0	0	1	0	0	0	11791	1754	61	5	2165	5	PEG3	19	57327205	Missense_Mutation	SNP	T	TCGA-CN-6020-01A-11D-1683-08	9470701	57327205	1801778	165	19104											
ZNF749	388567	broad.mit.edu	37	chr19	57955191	57955191	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggggagaggccttatgaGttcagtgaatgtggggaatt	11	11	16	3	0	1	3	1	2	0	1	1	5	1	4	1	5	0	1	1	5	4	3			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:57955191G>A	ENST00000334181.4	+	3	925	c.675G>A	c.(673-675)gaG>gaA	p.E225E	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		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;0.0264)|Lung(386;0.177)		GGCCTTATGAGTTCAGTGAAT	0.428													13	56					0	0	0	0	A	57955191	G	A	57955191	2	1	99	1	0	0	0	0	0	0	0	1	18225	1020	36	4		4	ZNF749	19	57955191	Silent	SNP	G	TCGA-CN-6020-01A-11D-1683-08	627986	57955191	1173792	166	19105											
SLC23A2	9962	broad.mit.edu	37	chr20	4855261	4855261	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacttgtacgcagtccaTcctttcttggatttataaat	10	17	6	8	1	1	0	0	0	1	0	3	1	3	1	2	1	2	3	2	1	5	8			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr20:4855261T>A	ENST00000379333.1	-	10	1298	c.906A>T	c.(904-906)ggA>ggT	p.G302G	SLC23A2_ENST00000338244.1_Silent_p.G302G|SLC23A2_ENST00000424750.2_Silent_p.G188G|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	302					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACGCAGTCCATCCTTTCTTGG	0.383													7	131					0	0	0	0	A	4855261	T	A	4855261	2	1	99	1	0	0	0	0	0	0	0	1	14551	1422	50	5		5	SLC23A2	20	4855261	Silent	SNP	T	TCGA-CN-6020-01A-11D-1683-08		4855261	58170259	167	19106											
ZNFX1	57169	broad.mit.edu	37	chr20	47888006	47888006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attggaccatggtggtctgcGgttcctacagtcctggttgc	5	13	13	10	1	1	0	0	0	1	0	3	1	3	1	3	5	3	2	3	5	1	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr20:47888006G>A	ENST00000396105.1	-	3	589	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R115C|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R115C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	115							metal ion binding	p.R115S(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTGGTCTGCGGTTCCTACAG	0.557													19	244					0	0	0	0	A	47888006	G	A	47888006	3	1	99	1	0	0	0	0	1	0	0	0	18298	1116	39	1	5461	1	ZNFX1	20	47888006	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	43032745	47888006	15137514	168	19107											
SALL4	57167	broad.mit.edu	37	chr20	50407919	50407919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggtttgacatccaccGcggagatgttcggtggcttc	5	13	13	10	3	0	2	0	1	0	1	3	3	1	2	2	4	0	3	2	4	0	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr20:50407919G>A	ENST00000217086.4	-	2	1214	c.1103C>T	c.(1102-1104)gCg>gTg	p.A368V	SALL4_ENST00000395997.3_Missense_Mutation_p.A368V|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	368					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACATCCACCGCGGAGATGTT	0.562													8	56					0	0	0	0	A	50407919	G	A	50407919	3	1	99	1	0	0	0	0	1	0	0	0	13898	1087	38	1	2070	1	SALL4	20	50407919	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	2519913	50407919	12617601	169	19108											
BAGE2	85319	broad.mit.edu	37	chr21	11049619	11049619	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagtttgcatcttcctTcgctataattaacagtaaaa	13	14	5	9	1	1	0	0	0	1	0	3	0	2	0	1	0	3	5	1	0	5	7			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr21:11049619T>A	ENST00000470054.1	-	0	489									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCATCTTCCTTCGCTATAATT	0.373													7	205					0	0	0	0	A	11049619	T	A	11049619	1	1	99	0	1	0	0	0	0	0	0	0	1296	1770	62	5		5	BAGE2	21	11049619	RNA	SNP	T	TCGA-CN-6020-01A-11D-1683-08		11049619	37080276	170	19109											
BAGE2	85319	broad.mit.edu	37	chr21	11058340	11058340	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgaaaggggtaaaggAgagaaatctctttataaaac	17	9	10	5	1	1	2	0	1	1	1	3	4	1	3	0	3	1	2	0	3	7	4	rs28617310	by1000genomes	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363													6	142					0	0	0	0	C	11058340	A	C	11058340	1	2	99	0	1	0	0	0	0	0	0	0	1296	319	11	5		5	BAGE2	21	11058340	RNA	SNP	A	TCGA-CN-6020-01A-11D-1683-08	8721	11058340	37071555	171	19110											
GNB1L	54584	broad.mit.edu	37	chr22	19808242	19808242	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtgtaccaggccactctGagacctgtttcagacaagcc	10	9	10	12	0	2	2	1	1	1	2	2	4	2	2	4	1	2	2	4	1	2	2			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr22:19808242G>A	ENST00000329517.6	-	4	369	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000405009.1_Nonsense_Mutation_p.Q45*|GNB1L_ENST00000403325.1_Nonsense_Mutation_p.Q45*	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	45					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					AGGCCACTCTGAGACCTGTTT	0.642													7	57					0	0	0	0	A	19808242	G	A	19808242	4	1	99	1	0	0	0	0	0	1	0	0	6567	1299	45	2	870	2	GNB1L	22	19808242	Nonsense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08		19808242	31496324	172	19111											
RFPL3	10738	broad.mit.edu	37	chr22	32756539	32756539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttgagggatggaagccGcctctctgccagcacggtgc	7	8	15	11	2	1	1	0	1	1	0	2	4	1	3	3	3	4	2	3	3	1	1			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr22:32756539G>A	ENST00000249007.4	+	2	879	c.674G>A	c.(673-675)cGc>cAc	p.R225H	RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.R196H|RFPL3_ENST00000397468.1_Missense_Mutation_p.R196H|RFPL3S_ENST00000400234.1_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	225	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GATGGAAGCCGCCTCTCTGCC	0.527													15	71					0	0	0	0	A	32756539	G	A	32756539	3	1	99	1	0	0	0	0	1	0	0	0	13337	1087	38	1	680	1	RFPL3	22	32756539	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	12948297	32756539	18548027	173	19112											
KCNJ4	3761	broad.mit.edu	37	chr22	38823566	38823566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgcgcaccgaaatgaccGcgtggtggctgaacagcaac	10	5	13	13	6	0	2	0	2	0	0	1	3	0	2	2	2	3	3	2	2	3	0			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr22:38823566G>A	ENST00000303592.3	-	2	830	c.572C>T	c.(571-573)gCg>gTg	p.A191V		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	191					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGAAATGACCGCGTGGTGGCT	0.637													4	30					0	0	0	0	A	38823566	G	A	38823566	3	1	99	1	0	0	0	0	1	0	0	0	8106	1087	38	1	769	1	KCNJ4	22	38823566	Missense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	6067027	38823566	12481000	174	19113											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29417365	29417365	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagatgacattggaaattatAcctgtgaattaaaatatgga	18	12	8	3	0	0	3	0	2	0	1	0	5	0	5	1	2	1	0	1	2	8	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:29417365A>G	ENST00000378993.1	+	5	1316	c.643A>G	c.(643-645)Acc>Gcc	p.T215A	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.T215A	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	215	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGGAAATTATACCTGTGAATT	0.343													8	28					0	0	0	0	G	29417365	A	G	29417365	3	3	99	1	0	0	0	0	1	0	0	0	7714	391	14	5	657	5	IL1RAPL1	23	29417365	Missense_Mutation	SNP	A	TCGA-CN-6020-01A-11D-1683-08		29417365	125853195	175	19114											
FAM47A	158724	broad.mit.edu	37	chrX	34148157	34148157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgccaggcatttcatagcCcttgcttagaatgaaatcct	11	12	8	10	0	1	2	1	1	0	1	2	3	2	2	3	1	3	2	3	1	4	4			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:34148157C>A	ENST00000346193.3	-	1	2290	c.2239G>T	c.(2239-2241)Ggc>Tgc	p.G747C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	747										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATTTCATAGCCCTTGCTTAGA	0.408													14	68					4.3838e-07	4.90353e-07	1	0	A	34148157	C	A	34148157	3	1	99	1	0	0	0	0	1	0	0	0	5616	623	22	4	140	4	FAM47A	23	34148157	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	4730792	34148157	121122403	176	19115											
MUM1L1	139221	broad.mit.edu	37	chrX	105450642	105450642	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatcagaaatatccattttGgccagcagtgataaaaagta	17	11	7	6	0	1	2	1	1	0	1	2	2	2	2	2	1	1	2	2	1	7	6			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:105450642G>A	ENST00000337685.2	+	5	2002	c.1217G>A	c.(1216-1218)tGg>tAg	p.W406*	MUM1L1_ENST00000372552.1_Nonsense_Mutation_p.W406*|MUM1L1_ENST00000357175.2_Nonsense_Mutation_p.W406*	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	406	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATCCATTTTGGCCAGCAGTG	0.368													4	4					0	0	0	0	A	105450642	G	A	105450642	4	1	99	1	0	0	0	0	0	1	0	0	10056	1357	47	4	1219	4	MUM1L1	23	105450642	Nonsense_Mutation	SNP	G	TCGA-CN-6020-01A-11D-1683-08	71302485	105450642	49819918	177	19116											
DOCK11	139818	broad.mit.edu	37	chrX	117775257	117775257	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaccatatcatttttcactCagtgcttcaaggtaaaaatg	14	13	5	9	0	4	0	4	0	0	0	4	0	4	0	1	1	1	2	1	1	5	5			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:117775257C>T	ENST00000276204.6	+	39	4323	c.4249C>T	c.(4249-4251)Cag>Tag	p.Q1417*	DOCK11_ENST00000276202.7_Nonsense_Mutation_p.Q1417*			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1417					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATTTTTCACTCAGTGCTTCAA	0.378													6	36					0	0	0	0	T	117775257	C	T	117775257	4	4	99	1	0	0	0	0	0	1	0	0	4722	827	29	2	4403	2	DOCK11	23	117775257	Nonsense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	12324615	117775257	37495303	178	19117											
ZNF75D	7626	broad.mit.edu	37	chrX	134421749	134421749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaacagatataggatgatCatttccagtgtcatttttta	14	15	7	5	0	2	3	2	1	0	2	3	4	3	4	1	1	1	0	1	1	4	6			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:134421749C>T	ENST00000370766.3	-	7	3562	c.853G>A	c.(853-855)Gat>Aat	p.D285N	ZNF75D_ENST00000370764.1_Missense_Mutation_p.D190N|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	285	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATAGGATGATCATTTCCAGTG	0.363													4	38					0	0	0	0	T	134421749	C	T	134421749	3	4	99	1	0	0	0	0	1	0	0	0	18228	826	29	2	683	2	ZNF75D	23	134421749	Missense_Mutation	SNP	C	TCGA-CN-6020-01A-11D-1683-08	16646492	134421749	20848811	179	19118											
KIF17	57576	broad.mit.edu	37	chr1	20992741	20992741	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgtctgtgctgaggatctgGctggcccgcttagatcggaa	6	10	15	10	3	2	2	0	1	2	1	3	4	2	4	1	4	1	3	1	4	2	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:20992741G>A	ENST00000247986.2	-	14	3187	c.2877C>T	c.(2875-2877)agC>agT	p.S959S	KIF17_ENST00000375044.1_Silent_p.S859S|KIF17_ENST00000400463.3_Silent_p.S958S|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	959					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGAGGATCTGGCTGGCCCGCT	0.577													31	43					0	0	0	0	A	20992741	G	A	20992741	2	1	100	1	0	0	0	0	0	0	0	1	8330	1194	42	4		4	KIF17	1	20992741	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08		20992741	228257880	1	19119											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948750	37948750	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attggctccctggagagccaGatgtcggaactttggggggt	7	10	16	8	1	0	2	0	0	0	2	2	4	1	3	2	6	2	1	2	6	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:37948750G>A	ENST00000373087.6	+	6	1454	c.1338G>A	c.(1336-1338)caG>caA	p.Q446Q		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	446					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGAGAGCCAGATGTCGGAAC	0.647													3	44					0	0	0	0	A	37948750	G	A	37948750	2	1	100	1	0	0	0	0	0	0	0	1	17656	933	33	2		2	ZC3H12A	1	37948750	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	16956009	37948750	211301871	2	19120											
PRKAA2	5563	broad.mit.edu	37	chr1	57170082	57170082	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcttggaatccgaagtcaGagcaaaccgtatgacattat	14	10	8	9	2	2	2	1	1	1	1	3	4	3	3	2	1	2	2	2	1	5	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:57170082G>C	ENST00000371244.4	+	7	1293	c.1227G>C	c.(1225-1227)caG>caC	p.Q409H		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	409					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TCCGAAGTCAGAGCAAACCGT	0.408													41	34					0	0	0	0	C	57170082	G	C	57170082	3	2	100	1	0	0	0	0	1	0	0	0	12574	933	33	2	1253	2	PRKAA2	1	57170082	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	19221332	57170082	192080539	3	19121											
C8B	732	broad.mit.edu	37	chr1	57399015	57399015	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgaaagtggtacctttcagGacagggactccatttccttg	9	12	10	10	0	1	1	1	1	0	0	3	3	3	3	3	3	1	1	3	3	2	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:57399015G>A	ENST00000543257.1	-	11	1955	c.1389C>T	c.(1387-1389)gtC>gtT	p.V463V	C8B_ENST00000371237.4_Silent_p.V515V|C8B_ENST00000535057.1_Silent_p.V453V	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	515	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TACCTTTCAGGACAGGGACTC	0.552													17	30					0	0	0	0	A	57399015	G	A	57399015	2	1	100	1	0	0	0	0	0	0	0	1	2440	1161	41	2		2	C8B	1	57399015	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	228933	57399015	191851606	4	19122											
LHX8	431707	broad.mit.edu	37	chr1	75622595	75622595	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggtgtggtttcagaattgTagagcacgccacaagaaaca	14	8	11	8	1	1	3	1	0	0	3	1	3	1	3	1	2	2	3	1	2	4	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:75622595T>C	ENST00000294638.5	+	9	1492	c.828T>C	c.(826-828)tgT>tgC	p.C276C	LHX8_ENST00000356261.3_Silent_p.C266C	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TTCAGAATTGTAGAGCACGCC	0.473													42	43					0	0	0	0	C	75622595	T	C	75622595	2	2	100	1	0	0	0	0	0	0	0	1	8830	1644	57	5		5	LHX8	1	75622595	Silent	SNP	T	TCGA-CN-6021-01A-11D-1683-08	18223580	75622595	173628026	5	19123											
SLC44A5	204962	broad.mit.edu	37	chr1	75716976	75716976	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtaaaacaaaatggtcttGttcctgttaagaaagaaaac	19	10	7	5	0	1	2	0	0	1	2	2	2	2	2	1	1	2	3	1	1	9	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:75716976G>A	ENST00000370855.5	-	7	377	c.264C>T	c.(262-264)aaC>aaT	p.N88N	SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000370859.3_Silent_p.N88N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	88						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AAATGGTCTTGTTCCTGTTAA	0.378													13	26					0	0	0	0	A	75716976	G	A	75716976	2	1	100	1	0	0	0	0	0	0	0	1	14727	1368	48	4		4	SLC44A5	1	75716976	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	94381	75716976	173533645	6	19124											
LCE1A	353131	broad.mit.edu	37	chr1	152800095	152800095	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagtgtcagctccggAggctgctgtggctccagctc	4	10	14	13	1	1	0	1	0	0	0	4	1	3	1	2	3	5	7	2	3	0	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:152800095A>G	ENST00000335123.2	+	1	147	c.147A>G	c.(145-147)ggA>ggG	p.G49G		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	49	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGCTCCGGAGGCTGCTGTG	0.672													20	39					0	0	0	0	G	152800095	A	G	152800095	2	3	100	1	0	0	0	0	0	0	0	1	8712	291	11	5		5	LCE1A	1	152800095	Silent	SNP	A	TCGA-CN-6021-01A-11D-1683-08	77083119	152800095	96450526	7	19125											
ATP8B2	57198	broad.mit.edu	37	chr1	154318808	154318808	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcatctgcatcgcccaGggcatctacacctccgtgct	6	12	7	16	2	4	0	1	0	3	0	6	0	5	0	3	1	3	3	3	1	1	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:154318808G>C	ENST00000368489.3	+	25	2979	c.2979G>C	c.(2977-2979)caG>caC	p.Q993H		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	979					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCATCGCCCAGGGCATCTACA	0.562													22	52					0	0	0	0	C	154318808	G	C	154318808	3	2	100	1	0	0	0	0	1	0	0	0	1199	991	35	4	3207	4	ATP8B2	1	154318808	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	1518713	154318808	94931813	8	19126											
SPTA1	6708	broad.mit.edu	37	chr1	158624459	158624459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttcatggtgacttctcggGggctgcgggcctggaagtca	5	11	15	10	2	4	1	2	1	2	0	5	2	4	2	1	5	1	1	1	5	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:158624459G>T	ENST00000368148.3	-	21	3158	c.2978C>A	c.(2977-2979)cCc>cAc	p.P993H	SPTA1_ENST00000368147.3_Missense_Mutation_p.P993H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	993	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GACTTCTCGGGGGCTGCGGGC	0.468													11	25					9.31168e-06	1.01922e-05	1	0	T	158624459	G	T	158624459	3	4	100	1	0	0	0	0	1	0	0	0	15206	1232	43	4	4409	4	SPTA1	1	158624459	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	4305651	158624459	90626162	9	19127											
OR6K3	391114	broad.mit.edu	37	chr1	158687951	158687951	+	Translation_Start_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagggcatagtccagcaCatgagagggtagagaaaaaa	17	4	15	5	0	0	3	0	1	0	3	1	6	1	3	1	3	1	3	1	3	5	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:158687951C>G	ENST00000368146.1	-	1	2	c.3G>C	c.(1-3)atG>atC	p.M1I				Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TAGTCCAGCACATGAGAGGGT	0.373													16	33					0	0	0	0	G	158687951	C	G	158687951	1	3	100	1	0	0	0	0	0	0	0	0	11274	493	17	4		4	OR6K3	1	158687951	Translation_Start_Site	SNP	C	TCGA-CN-6021-01A-11D-1683-08	63492	158687951	90562670	10	19128											
SELP	6403	broad.mit.edu	37	chr1	169572441	169572441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcttagcaaaggtgtgcAgggaatggctatcatgggca	11	8	16	6	0	1	0	1	0	0	0	1	1	1	1	0	5	2	5	0	5	4	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:169572441A>G	ENST00000263686.6	-	10	1565	c.1528T>C	c.(1528-1530)Tgc>Cgc	p.C510R	SELP_ENST00000367792.2_Intron|SELP_ENST00000367791.2_Missense_Mutation_p.C386R|SELP_ENST00000367788.2_Missense_Mutation_p.C448R|SELP_ENST00000367793.2_Missense_Mutation_p.C448R|SELP_ENST00000367794.2_Missense_Mutation_p.C448R|SELP_ENST00000367786.2_Missense_Mutation_p.C448R|SELP_ENST00000458599.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	510	Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AAAGGTGTGCAGGGAATGGCT	0.443													17	62					0	0	0	0	G	169572441	A	G	169572441	3	3	100	1	0	0	0	0	1	0	0	0	14106	188	7	5	992	5	SELP	1	169572441	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	10884490	169572441	79678180	11	19129											
SELP	6403	broad.mit.edu	37	chr1	169586578	169586578	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgattctggcagtatttacGggaaatattccatgagtatg	11	13	11	6	2	1	1	0	1	1	0	2	3	2	2	1	2	1	3	1	2	5	7			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:169586578G>C	ENST00000263686.6	-	3	206	c.169C>G	c.(169-171)Cgt>Ggt	p.R57G	SELP_ENST00000367792.2_Missense_Mutation_p.R57G|SELP_ENST00000367791.2_Missense_Mutation_p.R57G|SELP_ENST00000367788.2_Missense_Mutation_p.R57G|SELP_ENST00000367793.2_Missense_Mutation_p.R57G|SELP_ENST00000367794.2_Missense_Mutation_p.R57G|SELP_ENST00000367786.2_Missense_Mutation_p.R57G|SELP_ENST00000458599.2_Missense_Mutation_p.R57G	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	57					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAGTATTTACGGGAAATATTC	0.408													46	104					0	0	0	0	C	169586578	G	C	169586578	3	2	100	1	0	0	0	0	1	0	0	0	14106	1116	39	3	2379	3	SELP	1	169586578	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	14137	169586578	79664043	12	19130											
METTL13	51603	broad.mit.edu	37	chr1	171756906	171756906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtctgtgggtggggacattgGggtccggaccgttcagcacc	5	9	17	10	2	2	0	1	0	1	0	3	2	3	2	3	6	1	2	3	6	0	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:171756906G>T	ENST00000361735.3	+	4	1411	c.1145G>T	c.(1144-1146)gGg>gTg	p.G382V	METTL13_ENST00000458517.1_Missense_Mutation_p.G381V|METTL13_ENST00000367737.5_Missense_Mutation_p.G226V|METTL13_ENST00000362019.3_Missense_Mutation_p.G296V	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	382							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGGGACATTGGGGTCCGGACC	0.502													12	27					1.05317e-09	1.26116e-09	1	0	T	171756906	G	T	171756906	3	4	100	1	0	0	0	0	1	0	0	0	9566	1232	43	4	1159	4	METTL13	1	171756906	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	2170328	171756906	77493715	13	19131											
RC3H1	149041	broad.mit.edu	37	chr1	173907909	173907909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctctgggagtcattattatCccctcctccctcagggtcct	5	14	7	15	0	3	0	2	0	1	0	8	1	7	1	5	2	0	0	5	2	2	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:173907909C>A	ENST00000367696.2	-	20	3703	c.3352G>T	c.(3352-3354)Gat>Tat	p.D1118Y	RC3H1_ENST00000367694.2_Missense_Mutation_p.D1110Y|RC3H1_ENST00000258349.4_Missense_Mutation_p.D1118Y			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1118					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCATTATTATCCCCTCCTCCC	0.463													16	68					1.5739e-10	1.92701e-10	1	0	A	173907909	C	A	173907909	3	1	100	1	0	0	0	0	1	0	0	0	13248	855	30	2	53	2	RC3H1	1	173907909	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	2151003	173907909	75342712	14	19132											
KCNT2	343450	broad.mit.edu	37	chr1	196303004	196303004	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagacatttcttcatctGgtgtagtttcatcttctgat	8	19	7	7	0	6	3	2	2	4	1	6	3	6	3	0	1	0	2	0	1	2	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:196303004G>C	ENST00000367433.5	-	17	2071	c.1970C>G	c.(1969-1971)cCa>cGa	p.P657R	KCNT2_ENST00000294725.8_Missense_Mutation_p.P657R|KCNT2_ENST00000367431.4_Missense_Mutation_p.P607R|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.P268R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	657						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTCTTCATCTGGTGTAGTTTC	0.353													5	24					0	0	0	0	C	196303004	G	C	196303004	3	2	100	1	0	0	0	0	1	0	0	0	8145	1348	47	4	1485	4	KCNT2	1	196303004	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	22395095	196303004	52947617	15	19133											
CFHR4	10877	broad.mit.edu	37	chr1	196882035	196882035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgcaaaatggatggtcagCacaaccaatttgcattagta	14	12	8	7	0	1	0	1	0	0	0	1	1	1	1	1	2	4	4	1	2	6	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:196882035C>T	ENST00000367416.2	+	7	1297	c.1160C>T	c.(1159-1161)gCa>gTa	p.A387V	CFHR4_ENST00000367418.1_Missense_Mutation_p.A141V|CFHR4_ENST00000251424.4_Missense_Mutation_p.A141V|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GGATGGTCAGCACAACCAATT	0.308													35	95					0	0	0	0	T	196882035	C	T	196882035	3	4	100	1	0	0	0	0	1	0	0	0	3316	710	25	4	432	4	CFHR4	1	196882035	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	579031	196882035	52368586	16	19134											
CRB1	23418	broad.mit.edu	37	chr1	197390936	197390936	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccctggagaacatctcgTctggctcatcattaaatgtc	10	13	7	11	1	4	1	2	0	2	1	6	2	4	1	1	2	2	1	1	2	4	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:197390936T>A	ENST00000367397.1	+	2	979	c.121T>A	c.(121-123)Tct>Act	p.S41T	CRB1_ENST00000538660.1_Missense_Mutation_p.S660T|CRB1_ENST00000544212.1_Missense_Mutation_p.S141T|CRB1_ENST00000367400.3_Missense_Mutation_p.S660T|CRB1_ENST00000543483.1_Silent_p.R289R|CRB1_ENST00000367399.2_Missense_Mutation_p.S548T|CRB1_ENST00000535699.1_Missense_Mutation_p.S591T			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	660	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GAACATCTCGTCTGGCTCATC	0.443													35	68					0	0	0	0	A	197390936	T	A	197390936	3	1	100	1	0	0	0	0	1	0	0	0	3878	1667	58	5	2000	5	CRB1	1	197390936	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	508901	197390936	51859685	17	19135											
PLXNA2	5362	broad.mit.edu	37	chr1	208218554	208218554	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggagggcagaggtttttgCcctgtagagaatagcagtct	10	10	14	7	0	1	2	0	0	1	2	1	4	1	3	1	3	2	4	1	3	3	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:208218554C>T	ENST00000367033.3	-	19	4254	c.3495_splice	c.e19-1	p.G1166_splice		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1166	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAGGTTTTTGCCCTGTAGAGA	0.498													3	77					0	0	0	0	T	208218554	C	T	208218554	5	4	100	1	0	0	0	0	0	0	1	0	12192	753	26	4	2243	4	PLXNA2	1	208218554	Splice_Site	SNP	C	TCGA-CN-6021-01A-11D-1683-08	10827618	208218554	41032067	18	19136											
LYST	1130	broad.mit.edu	37	chr1	235850334	235850334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaactgtcaggcacccaaGcacaactagtcacctttgaa	13	7	8	13	0	2	1	2	1	0	0	2	1	2	1	2	2	3	3	2	2	5	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:235850334G>A	ENST00000389794.3	-	48	10889	c.10715C>T	c.(10714-10716)gCt>gTt	p.A3572V	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.A3572V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3572					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGGCACCCAAGCACAACTAGT	0.363													4	92					0	0	0	0	A	235850334	G	A	235850334	3	1	100	1	0	0	0	0	1	0	0	0	9193	971	34	4	714	4	LYST	1	235850334	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	27631780	235850334	13400287	19	19137											
RGS7	6000	broad.mit.edu	37	chr1	240979618	240979618	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcataggttgactcaccTgttgttgtaactcatcttct	8	17	6	10	0	5	1	3	1	3	0	6	1	5	1	1	1	1	4	1	1	2	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:240979618T>A	ENST00000366565.1	-	11	1163	c.783_splice	c.e11+1	p.Q261_splice	RGS7_ENST00000348120.2_Splice_Site_p.Q208_splice|RGS7_ENST00000407727.1_Splice_Site_p.Q261_splice|RGS7_ENST00000366564.1_Splice_Site_p.Q261_splice|RGS7_ENST00000331110.7_Splice_Site_p.Q235_splice|RGS7_ENST00000366563.1_Splice_Site_p.Q261_splice|RGS7_ENST00000366562.4_Splice_Site_p.Q261_splice|RGS7_ENST00000401882.1_Splice_Site_p.Q208_splice|RGS7_ENST00000446183.2_Splice_Site_p.Q177_splice	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	261	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACTCACCTGTTGTTGTAA	0.373													30	91					0	0	0	0	A	240979618	T	A	240979618	5	1	100	1	0	0	0	0	0	0	1	0	13393	1594	55	5	713	5	RGS7	1	240979618	Splice_Site	SNP	T	TCGA-CN-6021-01A-11D-1683-08	5129284	240979618	8271003	20	19138											
RGS7	6000	broad.mit.edu	37	chr1	241099909	241099909	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aataaacttacttgaaaccgGtaaaaggtgccatcatcctt	15	11	6	9	1	1	1	1	1	0	0	2	1	2	1	3	2	4	1	3	2	7	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:241099909G>T	ENST00000366565.1	-	5	705	c.324C>A	c.(322-324)taC>taA	p.Y108*	RGS7_ENST00000348120.2_Intron|RGS7_ENST00000407727.1_Nonsense_Mutation_p.Y108*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.Y108*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.Y82*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.Y108*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.Y108*|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000446183.2_Nonsense_Mutation_p.Y24*	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	108	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTTGAAACCGGTAAAAGGTGC	0.403													15	58					2.31682e-05	2.50007e-05	1	0	T	241099909	G	T	241099909	4	4	100	1	0	0	0	0	0	1	0	0	13393	1256	44	4	1195	4	RGS7	1	241099909	Nonsense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	120291	241099909	8150712	21	19139											
OR2M2	391194	broad.mit.edu	37	chr1	248343753	248343753	+	Frame_Shift_Del	DEL	G	G	-																															ggatcctgggctctacagatGgaatcattgatgctgtagcc																										TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:248343753delG	ENST00000359682.2	+	1	466	c.466delG	c.(466-468)gafs	p.G156fs		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCTACAGATGGAATCATTGA	0.433													87	268	---	---	---	---					-	248343753	G	-	248343753	7	5	100	1	0	1	0	1	0	0	0	0	11081	1349	47	0	468	0	OR2M2	1	248343753	Frame_Shift_Del	DEL	G	TCGA-CN-6021-01A-11D-1683-08	7243844	248343753	906868	22	19140											
OR2T1	26696	broad.mit.edu	37	chr1	248569749	248569749	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggtgcacagctcaacacTtcctctaccttacccttgtg	7	12	8	14	0	2	0	1	0	1	0	3	0	3	0	3	2	5	2	3	2	3	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:248569749T>C	ENST00000366474.1	+	1	454	c.454T>C	c.(454-456)Ttc>Ctc	p.F152L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCTCAACACTTCCTCTACCT	0.478													43	104					0	0	0	0	C	248569749	T	C	248569749	3	2	100	1	0	0	0	0	1	0	0	0	11087	1609	56	5	456	5	OR2T1	1	248569749	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	225996	248569749	680872	23	19141											
TPO	7173	broad.mit.edu	37	chr2	1440052	1440052	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagatctgctgagcatCattgcaaacatgtctggatg	12	11	10	8	0	4	3	2	1	2	2	4	4	4	4	0	1	4	3	0	1	2	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:1440052C>A	ENST00000345913.4	+	5	469	c.378C>A	c.(376-378)atC>atA	p.I126I	TPO_ENST00000382201.3_Silent_p.I126I|TPO_ENST00000329066.4_Silent_p.I126I|TPO_ENST00000346956.3_Silent_p.I126I|TPO_ENST00000539820.1_Silent_p.I126I|TPO_ENST00000382198.1_Silent_p.I126I|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Silent_p.I126I|TPO_ENST00000382269.3_Silent_p.I126I|TPO_ENST00000349624.3_Silent_p.I126I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	126					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCTGAGCATCATTGCAAACA	0.433													29	60					1.16021e-09	1.385e-09	1	0	A	1440052	C	A	1440052	2	1	100	1	0	0	0	0	0	0	0	1	16505	816	29	2		2	TPO	2	1440052	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08		1440052	241759321	24	19142											
DDX1	1653	broad.mit.edu	37	chr2	15758345	15758345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttattctgattttataaataGgatgcacaatcagattcctc	13	16	5	7	0	2	2	1	1	1	1	4	3	3	3	1	1	1	1	1	1	6	7			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:15758345G>A	ENST00000381341.2	+	17	1546	c.1157G>A	c.(1156-1158)aGg>aAg	p.R386K	DDX1_ENST00000233084.3_Missense_Mutation_p.R386K			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	386	Helicase ATP-binding.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TTTATAAATAGGATGCACAAT	0.299													38	116					0	0	0	0	A	15758345	G	A	15758345	3	1	100	1	0	0	0	0	1	0	0	0	4373	1000	35	4	1219	4	DDX1	2	15758345	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	14318293	15758345	227441028	25	19143											
FAM179A	165186	broad.mit.edu	37	chr2	29255814	29255814	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcagattttatggccggaAgatggtgaatatcttgatgg	10	13	14	4	1	1	4	0	2	1	2	1	5	1	5	1	5	0	1	1	5	4	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:29255814A>G	ENST00000379558.4	+	15	2378	c.2027A>G	c.(2026-2028)aAg>aGg	p.K676R	FAM179A_ENST00000403861.2_Missense_Mutation_p.K621R|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	676							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TATGGCCGGAAGATGGTGAAT	0.403													4	14					0	0	0	0	G	29255814	A	G	29255814	3	3	100	1	0	0	0	0	1	0	0	0	5546	72	3	5	2081	5	FAM179A	2	29255814	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	13497469	29255814	213943559	26	19144											
BIRC6	57448	broad.mit.edu	37	chr2	32613839	32613839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccacagttacatttcatCttcctcatcatgtgttgaag	9	14	8	10	0	4	1	3	1	1	0	5	1	5	1	2	1	1	2	2	1	2	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:32613839C>T	ENST00000421745.2	+	4	801	c.667C>T	c.(667-669)Ctt>Ttt	p.L223F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	223					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TACATTTCATCTTCCTCATCA	0.368													14	41					0	0	0	0	T	32613839	C	T	32613839	3	4	100	1	0	0	0	0	1	0	0	0	1443	913	32	2	681	2	BIRC6	2	32613839	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	3358025	32613839	210585534	27	19145											
BIRC6	57448	broad.mit.edu	37	chr2	32726872	32726872	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattatttaccatactgacaAcccttagtaaaaaagcttct	15	13	4	9	0	1	1	0	1	1	0	1	2	1	1	2	0	4	2	2	0	8	7			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:32726872A>G	ENST00000421745.2	+	47	9258	c.9124A>G	c.(9124-9126)Acc>Gcc	p.T3042A		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3042					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CATACTGACAACCCTTAGTAA	0.403													23	56					0	0	0	0	G	32726872	A	G	32726872	3	3	100	1	0	0	0	0	1	0	0	0	1443	43	2	5	9310	5	BIRC6	2	32726872	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	113033	32726872	210472501	28	19146											
FOXN2	3344	broad.mit.edu	37	chr2	48600434	48600434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttttcccttttcagaatCtgatattgatgctgctgctg	7	18	7	9	0	2	3	1	2	1	1	3	3	3	3	1	0	3	3	1	0	2	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:48600434C>A	ENST00000340553.3	+	6	968	c.707C>A	c.(706-708)tCt>tAt	p.S236Y		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	236					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TTTTCAGAATCTGATATTGAT	0.289													24	55					5.61819e-17	7.53034e-17	1	0	A	48600434	C	A	48600434	3	1	100	1	0	0	0	0	1	0	0	0	6067	913	32	2	721	2	FOXN2	2	48600434	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	15873562	48600434	194598939	29	19147											
PNPT1	87178	broad.mit.edu	37	chr2	55894127	55894127	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttttatataaattaccTgtgtttgtcctctttgaaat	10	20	5	6	0	1	1	0	1	1	0	2	1	2	1	2	0	2	2	2	0	6	8			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:55894127T>A	ENST00000447944.2	-	13	1261	c.1176_splice	c.e13+1	p.Q392_splice		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	392					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	p.Q392L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATAAATTACCTGTGTTTGTCC	0.318													11	24					0	0	0	0	A	55894127	T	A	55894127	5	1	100	1	0	0	0	0	0	0	1	0	12245	1594	55	5	1240	5	PNPT1	2	55894127	Splice_Site	SNP	T	TCGA-CN-6021-01A-11D-1683-08	7293693	55894127	187305246	30	19148											
HK2	3099	broad.mit.edu	37	chr2	75107439	75107439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggctggtgcccggctGcgatgtccgcttcctccgct	1	9	15	16	6	0	0	0	0	0	0	3	1	3	0	4	4	2	4	4	4	0	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:75107439G>T	ENST00000290573.2	+	10	1913	c.1313G>T	c.(1312-1314)tGc>tTc	p.C438F	HK2_ENST00000409174.1_Missense_Mutation_p.C410F	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	438	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGCCCGGCTGCGATGTCCGC	0.627													77	242					1.04643e-32	1.53744e-32	1	0	T	75107439	G	T	75107439	3	4	100	1	0	0	0	0	1	0	0	0	7241	1319	46	4	1351	4	HK2	2	75107439	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	19213312	75107439	168091934	31	19149											
MFSD9	84804	broad.mit.edu	37	chr2	103335456	103335457	+	Frame_Shift_Ins	INS	-	-	A																															aaatatgtcccacatttcggINSaaaacagcaggttcttcatg																										TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:103335456_103335457insA	ENST00000258436.5	-	6	890_891	c.847_848insT	c.(847-849)cgafs	p.R283fs		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	283					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CCACATTTCGGAAAACAGCAGG	0.574													20	77	---	---	---	---					A	103335457	-	A	103335456	7	5	100	1	0	1	1	0	0	0	0	0	9608	1174	41	0	580	0	MFSD9	2	103335456	Frame_Shift_Ins	INS	-	TCGA-CN-6021-01A-11D-1683-08	28228017	103335456	139863917	32	19150											
GLI2	2736	broad.mit.edu	37	chr2	121728127	121728127	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggccctcacctccatcaAtgccacgcccacccagctca	9	6	5	21	1	3	0	3	0	0	0	4	0	4	0	6	1	2	1	6	1	1	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:121728127A>G	ENST00000452319.1	+	7	1064	c.1004A>G	c.(1003-1005)aAt>aGt	p.N335S	GLI2_ENST00000361492.4_Missense_Mutation_p.N335S|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.N7S			P10070	GLI2_HUMAN	GLI family zinc finger 2	335					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)				ACCTCCATCAATGCCACGCCC	0.637													19	70					0	0	0	0	G	121728127	A	G	121728127	3	3	100	1	0	0	0	0	1	0	0	0	6489	101	4	5	1026	5	GLI2	2	121728127	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	18392671	121728127	121471246	33	19151											
THSD7B	80731	broad.mit.edu	37	chr2	137852677	137852677	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgttgaaggagaacttctGcagcaatgtcccaggtatta	12	12	10	7	0	1	2	0	1	1	1	2	3	2	2	1	2	3	4	1	2	5	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:137852677G>A	ENST00000409968.1	+	4	1363	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L	THSD7B_ENST00000413152.2_Silent_p.L364L|THSD7B_ENST00000272643.3_Silent_p.L395L|THSD7B_ENST00000543459.1_Silent_p.L254L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGAACTTCTGCAGCAATGTC	0.453													26	16					0	0	0	0	A	137852677	G	A	137852677	2	1	100	1	0	0	0	0	0	0	0	1	15974	1306	46	4		4	THSD7B	2	137852677	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	16124550	137852677	105346696	34	19152											
RIF1	55183	broad.mit.edu	37	chr2	152321320	152321320	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtagagattagtgaaacAaaaaaggcagatgtgcaagc	18	6	12	5	1	0	3	0	1	0	2	0	5	0	3	0	1	3	3	0	1	7	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:152321320A>G	ENST00000243326.4	+	29	5769	c.5286A>G	c.(5284-5286)acA>acG	p.T1762T	RIF1_ENST00000430328.2_Silent_p.T1762T|RIF1_ENST00000428287.2_Silent_p.T1762T|RIF1_ENST00000444746.2_Silent_p.T1762T|RIF1_ENST00000453091.2_Silent_p.T1762T			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1762					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTAGTGAAACAAAAAAGGCAG	0.368													20	57					0	0	0	0	G	152321320	A	G	152321320	2	3	100	1	0	0	0	0	0	0	0	1	13442	117	5	5		5	RIF1	2	152321320	Silent	SNP	A	TCGA-CN-6021-01A-11D-1683-08	14468643	152321320	90878053	35	19153											
SCN7A	6332	broad.mit.edu	37	chr2	167322306	167322306	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttacctcgaatataatatgGgtttccagttctgttgtgca	9	16	8	8	1	1	0	0	0	1	0	3	1	2	0	2	1	2	4	2	1	5	7			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:167322306G>C	ENST00000409855.1	-	7	982	c.856C>G	c.(856-858)Cca>Gca	p.P286A		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	286					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATATAATATGGGTTTCCAGTT	0.393													64	37					0	0	0	0	C	167322306	G	C	167322306	3	2	100	1	0	0	0	0	1	0	0	0	14010	1232	43	4	4268	4	SCN7A	2	167322306	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	15000986	167322306	75877067	36	19154											
TTN	7273	broad.mit.edu	37	chr2	179478783	179478783	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattgagaaacttaccaaaCtgatatttggctgttattgg	12	15	9	5	0	0	3	0	3	0	1	0	4	0	3	1	2	3	2	1	2	5	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179478783C>T	ENST00000589042.1	-	262	49565	c.49341G>A	c.(49339-49341)caG>caA	p.Q16447Q	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.Q7382Q|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Silent_p.Q14806Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.Q7507Q|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.Q13879Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.Q7574Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14806	Fibronectin type-III 19.						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)			ACTTACCAAACTGATATTTGG	0.343													23	9					0	0	0	0	T	179478783	C	T	179478783	2	4	100	1	0	0	0	0	0	0	0	1	16831	564	20	4		4	TTN	2	179478783	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	12156477	179478783	63720590	37	19155											
TTN	7273	broad.mit.edu	37	chr2	179482708	179482708	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcaatgacgtagtttgtGatctcagcacctccatcata	12	13	6	10	1	3	2	3	2	1	0	5	2	4	2	2	0	1	3	2	0	4	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179482708G>T	ENST00000589042.1	-	253	47594	c.47370C>A	c.(47368-47370)atC>atA	p.I15790I	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.I6725I|TTN_ENST00000591111.1_Silent_p.I14149I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I6850I|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.I13222I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.I6917I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14149	Fibronectin type-III 14.						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)			CGTAGTTTGTGATCTCAGCAC	0.458													24	74					2.79863e-10	3.41558e-10	1	0	T	179482708	G	T	179482708	2	4	100	1	0	0	0	0	0	0	0	1	16831	1280	45	2		2	TTN	2	179482708	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	3925	179482708	63716665	38	19156											
TTN	7273	broad.mit.edu	37	chr2	179483562	179483562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaggtcttggtcagctGtcttgatttttggtgcagct	6	15	11	9	0	3	1	1	1	2	0	3	1	3	1	1	3	3	3	1	3	1	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179483562G>T	ENST00000589042.1	-	251	46939	c.46715C>A	c.(46714-46716)aCa>aAa	p.T15572K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T6507K|TTN_ENST00000591111.1_Missense_Mutation_p.T13931K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T6632K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T13004K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T6699K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13931	Fibronectin type-III 13.						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)			TTGGTCAGCTGTCTTGATTTT	0.403													26	11					1.26454e-06	1.40423e-06	1	0	T	179483562	G	T	179483562	3	4	100	1	0	0	0	0	1	0	0	0	16831	1377	48	4	61426	4	TTN	2	179483562	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	854	179483562	63715811	39	19157											
TTN	7273	broad.mit.edu	37	chr2	179494132	179494132	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcccctgcagtcacggTgacatcctttaaaggcctca	8	12	8	13	1	2	1	2	1	0	0	4	1	4	1	4	2	1	2	4	2	2	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179494132T>A	ENST00000589042.1	-	240	44544	c.44320A>T	c.(44320-44322)Acc>Tcc	p.T14774S	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T5709S|TTN_ENST00000591111.1_Missense_Mutation_p.T13133S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T5834S|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T12206S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T5901S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13133	Fibronectin type-III 6.						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)			GCAGTCACGGTGACATCCTTT	0.463													46	24					0	0	0	0	A	179494132	T	A	179494132	3	1	100	1	0	0	0	0	1	0	0	0	16831	1696	59	5	63865	5	TTN	2	179494132	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	10570	179494132	63705241	40	19158											
SSFA2	6744	broad.mit.edu	37	chr2	182784173	182784173	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccgctcctccgcactcatGgtacgctacctggagggtgg	5	10	12	14	3	1	0	1	0	0	0	4	1	4	1	4	4	2	4	4	4	2	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:182784173G>T	ENST00000431877.2	+	14	3323	c.3144_splice	c.e14+1	p.M1048_splice	SSFA2_ENST00000409136.1_Splice_Site_p.M557_splice|SSFA2_ENST00000320370.7_Splice_Site_p.M1048_splice|SSFA2_ENST00000428267.2_Splice_Site_p.M895_splice|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409001.1_Splice_Site_p.M1048_splice	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1048						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCGCACTCATGGTACGCTACC	0.507													56	114					1.13205e-32	1.65686e-32	1	0	T	182784173	G	T	182784173	5	4	100	1	0	0	0	0	0	0	1	0	15273	1362	47	4	3198	4	SSFA2	2	182784173	Splice_Site	SNP	G	TCGA-CN-6021-01A-11D-1683-08	3290041	182784173	60415200	41	19159											
COL3A1	1281	broad.mit.edu	37	chr2	189864214	189864214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtgctgctggtcctcctGggccacctggtgctgctggt	2	11	16	12	0	0	0	0	0	0	0	2	0	2	0	4	5	4	4	4	5	0	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:189864214G>T	ENST00000304636.3	+	31	2310	c.2140G>T	c.(2140-2142)Ggg>Tgg	p.G714W	COL3A1_ENST00000317840.5_Missense_Mutation_p.G714W	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	714	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTCCTCCTGGGCCACCTGG	0.473													98	49					8.78727e-49	1.30612e-48	1	0	T	189864214	G	T	189864214	3	4	100	1	0	0	0	0	1	0	0	0	3718	1348	47	4	2262	4	COL3A1	2	189864214	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	7080041	189864214	53335159	42	19160											
MAP2	4133	broad.mit.edu	37	chr2	210574637	210574637	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttgcttgttaatacaGggtcagagccaattcgcaga	10	12	11	8	1	2	2	1	0	1	2	3	2	2	2	1	2	3	3	1	2	3	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:210574637G>T	ENST00000360351.4	+	12	5238		c.e12-1		MAP2_ENST00000392194.1_Splice_Site|MAP2_ENST00000199940.6_Splice_Site|MAP2_ENST00000475600.1_Splice_Site|MAP2_ENST00000361559.4_Splice_Site|MAP2_ENST00000447185.1_Splice_Site	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2						central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGTTAATACAGGGTCAGAGCC	0.458													13	21					2.27111e-07	2.56676e-07	1	0	T	210574637	G	T	210574637	5	4	100	1	0	0	0	0	0	0	1	0	9304	1014	35	4	4941	4	MAP2	2	210574637	Splice_Site	SNP	G	TCGA-CN-6021-01A-11D-1683-08	20710423	210574637	32624736	43	19161											
ERBB4	2066	broad.mit.edu	37	chr2	212522687	212522687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaagtacctatccatcaggCcgatgcagtcttcaatactt	11	11	6	13	1	3	0	2	0	1	0	4	1	4	0	4	1	3	2	4	1	5	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:212522687C>A	ENST00000402597.1	-	16	1903	c.1904G>T	c.(1903-1905)gGc>gTc	p.G635V	ERBB4_ENST00000436443.1_Intron|ERBB4_ENST00000342788.4_Intron			Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	635					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATCCATCAGGCCGATGCAGTC	0.413										TSP Lung(8;0.080)			15	12					2.23348e-06	2.46587e-06	1	0	A	212522687	C	A	212522687	3	1	100	1	0	0	0	0	1	0	0	0	5247	754	26	4		4	ERBB4	2	212522687	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	1948050	212522687	30676686	44	19162											
FN1	2335	broad.mit.edu	37	chr2	216235068	216235068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccttatgcctctgctggtCtttcagtgcctccactatga	7	14	7	13	0	3	1	1	1	2	0	4	1	4	1	4	1	4	1	4	1	3	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:216235068C>T	ENST00000354785.4	-	41	7171	c.6802G>A	c.(6802-6804)Gac>Aac	p.D2268N	FN1_ENST00000443816.1_Missense_Mutation_p.D2056N|FN1_ENST00000432072.2_Missense_Mutation_p.D2058N|FN1_ENST00000346544.3_Missense_Mutation_p.D2057N|FN1_ENST00000421182.1_Missense_Mutation_p.D2031N|FN1_ENST00000345488.5_Intron|FN1_ENST00000359671.1_Missense_Mutation_p.D2177N|FN1_ENST00000357867.4_Missense_Mutation_p.D1967N|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Missense_Mutation_p.D2087N|FN1_ENST00000336916.4_Missense_Mutation_p.D2146N|FN1_ENST00000323926.6_Missense_Mutation_p.D2237N|FN1_ENST00000446046.1_Missense_Mutation_p.D2121N			P02751	FINC_HUMAN	fibronectin 1	2177	Fibrin-binding 2.|Fibronectin type-I 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTGCTGGTCTTTCAGTGCC	0.522													5	29					0	0	0	0	T	216235068	C	T	216235068	3	4	100	1	0	0	0	0	1	0	0	0	6007	913	32	2	655	2	FN1	2	216235068	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	3712381	216235068	26964305	45	19163											
CNTN6	27255	broad.mit.edu	37	chr3	1414594	1414594	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatatctctgcacagtacaaAcaaccctagaaagtttatct	16	11	4	10	0	2	1	0	0	2	1	3	1	2	1	1	0	4	3	1	0	8	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:1414594A>G	ENST00000446702.2	+	14	2368	c.1741A>G	c.(1741-1743)Aca>Gca	p.T581A	CNTN6_ENST00000350110.2_Missense_Mutation_p.T581A|CNTN6_ENST00000539053.1_Missense_Mutation_p.T509A			Q9UQ52	CNTN6_HUMAN	contactin 6	581	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CACAGTACAAACAACCCTAGA	0.368													34	50					0	0	0	0	G	1414594	A	G	1414594	3	3	100	1	0	0	0	0	1	0	0	0	3675	43	2	5	1791	5	CNTN6	3	1414594	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08		1414594	196607836	46	19164											
CNTN4	152330	broad.mit.edu	37	chr3	3080618	3080618	+	Splice_Site	DEL	C	C	-																															tttttgtctccttgtgcagtCcccgaagtcacaccagcgaa																										TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:3080618delC	ENST00000397461.1	+	18	2478	c.2092_splice	c.e18-1	p.L698_splice	CNTN4_ENST00000448906.2_Splice_Site_p.L370_splice|CNTN4_ENST00000397459.2_Splice_Site_p.L370_splice|CNTN4_ENST00000418658.1_Splice_Site_p.L698_splice|CNTN4_ENST00000358480.3_Splice_Site_p.L479_splice|CNTN4_ENST00000427331.1_Splice_Site_p.L698_splice	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	698					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTTGTGCAGTCCCCGAAGTCA	0.498													12	29	---	---	---	---					-	3080618	C	-	3080618	8	5	100	1	0	1	0	1	0	0	1	0	3673	869	30	0	2156	0	CNTN4	3	3080618	Splice_Site	DEL	C	TCGA-CN-6021-01A-11D-1683-08	1666024	3080618	194941812	47	19165											
FANCD2	2177	broad.mit.edu	37	chr3	10083359	10083359	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaatcctggatgtccttTcaagcctccgacttgaccca	8	11	6	16	1	1	1	1	1	0	0	5	3	5	2	6	1	1	0	6	1	2	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:10083359T>A	ENST00000287647.3	+	10	841	c.748T>A	c.(748-750)Tca>Aca	p.S250T	FANCD2_ENST00000419585.1_Missense_Mutation_p.S250T|FANCD2_ENST00000383807.1_Missense_Mutation_p.S250T|FANCD2_ENST00000383806.1_Missense_Mutation_p.S250T	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	250	Interaction with BRCA2.|Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GGATGTCCTTTCAAGCCTCCG	0.428			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				34	36					0	0	0	0	A	10083359	T	A	10083359	3	1	100	1	0	0	0	0	1	0	0	0	5710	1783	62	5	782	5	FANCD2	3	10083359	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	7002741	10083359	187939071	48	19166											
CHCHD4	131474	broad.mit.edu	37	chr3	14154580	14154580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccccttgatctcctccGtgctatagtggaagcaggaa	9	10	10	12	1	1	2	0	2	1	0	3	4	2	4	4	2	2	2	4	2	4	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:14154580G>A	ENST00000295767.5	-	4	599	c.275C>T	c.(274-276)aCg>aTg	p.T92M	CHCHD4_ENST00000396914.3_Missense_Mutation_p.T79M	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	79	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GATCTCCTCCGTGCTATAGTG	0.522													22	17					0	0	0	0	A	14154580	G	A	14154580	3	1	100	1	0	0	0	0	1	0	0	0	3347	1145	40	1	196	1	CHCHD4	3	14154580	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	4071221	14154580	183867850	49	19167											
AMIGO3	386724	broad.mit.edu	37	chr3	49755899	49755899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctatggccaagctgccgtCggccagcaccgcgatgctgc	6	6	13	16	4	0	0	0	0	0	0	1	1	0	0	5	2	5	3	5	2	2	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:49755899C>T	ENST00000535833.1	-	10	4450	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	AMIGO3_ENST00000320431.7_Missense_Mutation_p.D334N|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron|GMPPB_ENST00000480687.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	334	Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGCTGCCGTCGGCCAGCACC	0.667													8	31					0	0	0	0	T	49755899	C	T	49755899	3	4	100	1	0	0	0	0	1	0	0	0	577	884	31	1	518	1	AMIGO3	3	49755899	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	35601319	49755899	148266531	50	19168											
OR5K4	403278	broad.mit.edu	37	chr3	98073045	98073045	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagactgctttcttctggcGacaatggcctatgaccgcta	9	11	9	12	2	2	2	0	1	2	1	2	3	2	2	2	2	1	2	2	2	3	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:98073045G>T	ENST00000354924.2	+	1	348	c.348G>T	c.(346-348)gcG>gcT	p.A116A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTCTTCTGGCGACAATGGCCT	0.458													177	140					1.29928e-97	1.94638e-97	1	0	T	98073045	G	T	98073045	2	4	100	1	0	0	0	0	0	0	0	1	11240	1045	37	3		3	OR5K4	3	98073045	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	48317146	98073045	99949385	51	19169											
DPPA4	55211	broad.mit.edu	37	chr3	109050598	109050598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttttgatttgggtaggCaaaggcacacaggcgcttat	10	12	11	8	1	0	1	0	1	0	0	0	1	0	1	1	4	1	4	1	4	4	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:109050598C>A	ENST00000335658.6	-	4	427	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	125						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTTGGGTAGGCAAAGGCACAC	0.403													15	132					5.3912e-06	5.91793e-06	1	0	A	109050598	C	A	109050598	3	1	100	1	0	0	0	0	1	0	0	0	4772	710	25	4	557	4	DPPA4	3	109050598	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	10977553	109050598	88971832	52	19170											
SEMA5B	54437	broad.mit.edu	37	chr3	122646688	122646688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgaagcggtggcccactgcCcaggctgcggtagatggcag	7	5	17	12	3	0	1	0	0	0	1	0	2	0	1	2	5	3	3	2	5	2	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:122646688C>T	ENST00000195173.4	-	8	1102	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	SEMA5B_ENST00000451055.2_Missense_Mutation_p.G321S|SEMA5B_ENST00000357599.3_Missense_Mutation_p.G267S			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	267	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGCCCACTGCCCAGGCTGCGG	0.617													51	45					0	0	0	0	T	122646688	C	T	122646688	3	4	100	1	0	0	0	0	1	0	0	0	14125	623	22	4	2720	4	SEMA5B	3	122646688	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	13596090	122646688	75375742	53	19171											
MYLK	4638	broad.mit.edu	37	chr3	123451900	123451900	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttcctgtctcctcacGggggtgccttccaggaacca	5	10	10	16	1	2	0	1	0	1	0	5	1	4	1	6	3	3	0	6	3	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:123451900G>T	ENST00000360772.3	-	12	1737	c.1359C>A	c.(1357-1359)ccC>ccA	p.P453P	MYLK_ENST00000475616.1_Silent_p.P453P|MYLK_ENST00000360304.3_Silent_p.P453P|MYLK_ENST00000359169.1_Silent_p.P453P|MYLK_ENST00000346322.5_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase	453	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTCTCCTCACGGGGGTGCCTT	0.572													25	28					3.73808e-20	5.15504e-20	1	0	T	123451900	G	T	123451900	2	4	100	1	0	0	0	0	0	0	0	1	10126	1103	39	3		3	MYLK	3	123451900	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	805212	123451900	74570530	54	19172											
ITGB5	3693	broad.mit.edu	37	chr3	124538590	124538590	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccctcccagcataccttgTacagcatataatggtttttt	9	15	5	12	0	0	0	0	0	0	0	2	0	2	0	3	1	4	4	3	1	4	8			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:124538590T>C	ENST00000296181.4	-	7	1330	c.1034A>G	c.(1033-1035)tAc>tGc	p.Y345C	ITGB5_ENST00000488466.1_Intron	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	345	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GCATACCTTGTACAGCATATA	0.483													21	95					0	0	0	0	C	124538590	T	C	124538590	3	2	100	1	0	0	0	0	1	0	0	0	7951	1638	57	5	1401	5	ITGB5	3	124538590	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	1086690	124538590	73483840	55	19173											
COL6A5	256076	broad.mit.edu	37	chr3	130189796	130189796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacccagagaacggtggcaCagaaaacactgtattgtgag	15	6	11	9	1	0	3	0	1	0	2	0	4	0	3	1	2	3	2	1	2	5	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:130189796C>A	ENST00000265379.6	+	39	8053	c.7559C>A	c.(7558-7560)aCa>aAa	p.T2520K	COL6A5_ENST00000432398.2_Missense_Mutation_p.T2520K			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2520	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AACGGTGGCACAGAAAACACT	0.418													6	33					0.00116845	0.00119664	1	0	A	130189796	C	A	130189796	3	1	100	1	0	0	0	0	1	0	0	0	3732	478	17	4	7709	4	COL6A5	3	130189796	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	5651206	130189796	67832634	56	19174											
COL6A6	131873	broad.mit.edu	37	chr3	130327809	130327809	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggacttaagggccctcagGtacatatcaagaccaatcag	13	8	10	10	0	3	1	3	0	0	1	3	2	3	2	2	3	1	1	2	3	5	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:130327809G>T	ENST00000358511.6	+	21	4783		c.e21+1		COL6A6_ENST00000453409.2_Splice_Site	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6						axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGGCCCTCAGGTACATATCAA	0.463													9	50					1.12685e-05	1.22988e-05	1	0	T	130327809	G	T	130327809	5	4	100	1	0	0	0	0	0	0	1	0	3733	1275	44	4	4835	4	COL6A6	3	130327809	Splice_Site	SNP	G	TCGA-CN-6021-01A-11D-1683-08	138013	130327809	67694621	57	19175											
ACAD11	84129	broad.mit.edu	37	chr3	132378568	132378568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcacttcggccaaatCggactcgccagtagcacctg	9	6	12	14	3	0	0	0	0	0	0	3	1	0	1	3	3	2	4	3	3	2	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:132378568C>A	ENST00000264990.6	-	1	999	c.28G>T	c.(28-30)Gat>Tat	p.D10Y	UBA5_ENST00000264991.4_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.D10Y|UBA5_ENST00000356232.4_5'UTR|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_5'UTR|ACAD11_ENST00000481970.2_Missense_Mutation_p.D10Y	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TCGGCCAAATCGGACTCGCCA	0.602											OREG0015804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	114					1.49906e-05	1.62221e-05	1	0	A	132378568	C	A	132378568	3	1	100	1	0	0	0	0	1	0	0	0	109	884	31	3	2394	3	ACAD11	3	132378568	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	2050759	132378568	65643862	58	19176											
PRR23B	389151	broad.mit.edu	37	chr3	138739052	138739052	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcgtaggcctcttccTgggcggcgatctctgggaca	4	10	12	15	3	2	0	0	0	2	0	6	2	4	1	4	4	0	1	4	4	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:138739052T>A	ENST00000329447.5	-	1	716	c.452A>T	c.(451-453)cAg>cTg	p.Q151L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	151										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCCTCTTCCTGGGCGGCGAT	0.652													19	110					0	0	0	0	A	138739052	T	A	138739052	3	1	100	1	0	0	0	0	1	0	0	0	12675	1580	55	5	349	5	PRR23B	3	138739052	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	6360484	138739052	59283378	59	19177											
CHST2	9435	broad.mit.edu	37	chr3	142840860	142840860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatggaggtcatctgcaataGtatggctaagacgctgcaga	12	10	12	7	1	2	2	1	0	1	2	2	3	2	3	0	3	2	5	0	3	5	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:142840860G>A	ENST00000309575.3	+	2	2586	c.1202G>A	c.(1201-1203)aGt>aAt	p.S401N		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	401					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						ATCTGCAATAGTATGGCTAAG	0.652													23	129					0	0	0	0	A	142840860	G	A	142840860	3	1	100	1	0	0	0	0	1	0	0	0	3433	1029	36	4	1204	4	CHST2	3	142840860	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	4101808	142840860	55181570	60	19178											
MED12L	116931	broad.mit.edu	37	chr3	151082978	151082978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaatgtatgtatgggcCatcaggatgctggcaggtga	10	11	14	6	0	2	2	2	2	0	0	2	3	2	3	1	4	1	4	1	4	3	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:151082978C>T	ENST00000474524.1	+	20	3102	c.3064C>T	c.(3064-3066)Cat>Tat	p.H1022Y	MED12L_ENST00000273432.4_Missense_Mutation_p.H882Y|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1022					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGTATGGGCCATCAGGATGC	0.463													79	126					0	0	0	0	T	151082978	C	T	151082978	3	4	100	1	0	0	0	0	1	0	0	0	9498	594	21	4	3142	4	MED12L	3	151082978	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	8242118	151082978	46939452	61	19179											
GOLIM4	27333	broad.mit.edu	37	chr3	167742786	167742786	+	Frame_Shift_Del	DEL	G	G	-																															tttgctcttcattttcatctGgcaaattttcttctctcact																										TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:167742786delG	ENST00000470487.1	-	13	2410	c.1721delC	c.(1720-1722)cafs	p.P574fs	GOLIM4_ENST00000309027.4_Frame_Shift_Del_p.P546fs	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	574	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATTTTCATCTGGCAAATTTTC	0.418													104	117	---	---	---	---					-	167742786	G	-	167742786	7	5	100	1	0	1	0	1	0	0	0	0	6614	1348	47	0	385	0	GOLIM4	3	167742786	Frame_Shift_Del	DEL	G	TCGA-CN-6021-01A-11D-1683-08	16659808	167742786	30279644	62	19180											
MECOM	2122	broad.mit.edu	37	chr3	169099256	169099256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgctggctactccatctgCatctggcatttcttccaaag	8	13	8	12	0	3	0	0	0	3	0	5	0	5	0	2	2	3	4	2	2	2	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:169099256C>A	ENST00000494292.1	-	2	191	c.94G>T	c.(94-96)Gca>Tca	p.A32S	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	32							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACTCCATCTGCATCTGGCATT	0.428													5	64					1.23904e-05	1.34464e-05	1	0	A	169099256	C	A	169099256	3	1	100	1	0	0	0	0	1	0	0	0	9491	710	25	4	3699	4	MECOM	3	169099256	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	1356470	169099256	28923174	63	19181											
SAMD7	344658	broad.mit.edu	37	chr3	169639092	169639092	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgttctaccaaacacaaaTatggcaaatgtgttgtccag	13	12	7	9	0	2	0	0	0	2	0	3	0	3	0	2	1	2	3	2	1	5	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:169639092T>C	ENST00000428432.2	+	4	566	c.177T>C	c.(175-177)aaT>aaC	p.N59N	SAMD7_ENST00000335556.3_Silent_p.N59N	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	59										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAAACACAAATATGGCAAATG	0.438													29	124					0	0	0	0	C	169639092	T	C	169639092	2	2	100	1	0	0	0	0	0	0	0	1	13909	1403	49	5		5	SAMD7	3	169639092	Silent	SNP	T	TCGA-CN-6021-01A-11D-1683-08	539836	169639092	28383338	64	19182											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	27					0	0	0	0	A	178936082	G	A	178936082	3	1	100	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	9296990	178936082	19086348	65	19183											
KCNMB3	27094	broad.mit.edu	37	chr3	178984452	178984452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctcccctggcgcctcCggctgccctgaagtgtgatt	4	11	10	16	2	0	2	0	2	0	0	2	2	2	2	6	2	2	1	6	2	2	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:178984452C>A	ENST00000349697.2	-	1	307	c.47G>T	c.(46-48)cGg>cTg	p.R16L	KCNMB3_ENST00000497599.1_Missense_Mutation_p.R16L	NM_171828.1	NP_741979.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	0					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			CTGGCGCCTCCGGCTGCCCTG	0.597													24	31					2.89027e-11	3.58468e-11	1	0	A	178984452	C	A	178984452	3	1	100	1	0	0	0	0	1	0	0	0	8129	652	23	3	1009	3	KCNMB3	3	178984452	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	48370	178984452	19037978	66	19184											
ATP13A4	84239	broad.mit.edu	37	chr3	193153532	193153532	+	Splice_Site	DEL	C	C	-																															aacgagagctgcacgtccttCcctgtgtaagaaaagaaatg																										TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:193153532delC	ENST00000342695.4	-	24	2996	c.2672_splice	c.e24-1	p.E892_splice	ATP13A4_ENST00000392443.3_Splice_Site_p.E873_splice	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	892					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCACGTCCTTCCCTGTGTAAG	0.403													26	112	---	---	---	---					-	193153532	C	-	193153532	8	5	100	1	0	1	0	1	0	0	1	0	1130	869	30	0	944	0	ATP13A4	3	193153532	Splice_Site	DEL	C	TCGA-CN-6021-01A-11D-1683-08	14169080	193153532	4868898	67	19185											
TNK2	10188	broad.mit.edu	37	chr3	195597149	195597149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatctcatcagagcccCttcgtcctggaggaaaccgg	10	7	11	13	2	2	2	2	0	1	2	5	4	3	4	4	3	2	1	4	3	2	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:195597149C>A	ENST00000316664.3	-	11	1911	c.1578G>T	c.(1576-1578)aaG>aaT	p.K526N	TNK2_ENST00000428187.1_Intron|TNK2_ENST00000392400.1_Intron|TNK2_ENST00000381916.2_Intron|TNK2_ENST00000333602.6_Intron			Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	0				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	ATCAGAGCCCCTTCGTCCTGG	0.622													19	9					1.2644e-06	1.40423e-06	1	0	A	195597149	C	A	195597149	3	1	100	1	0	0	0	0	1	0	0	0	16412	696	24	4		4	TNK2	3	195597149	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	2443617	195597149	2425281	68	19186											
EPHA5	2044	broad.mit.edu	37	chr4	66230769	66230769	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttctaaatggatgatgttAggatgatcaaactgtcccat	12	13	8	8	0	2	2	1	2	1	0	3	4	3	4	2	2	1	1	2	2	4	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:66230769A>G	ENST00000273854.3	-	12	2802	c.2202T>C	c.(2200-2202)ccT>ccC	p.P734P	EPHA5_ENST00000432638.2_Silent_p.P571P|EPHA5_ENST00000511294.1_Silent_p.P735P|EPHA5_ENST00000354839.4_Silent_p.P712P	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	734	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGATGATGTTAGGATGATCAA	0.363										TSP Lung(17;0.13)			34	45					0	0	0	0	G	66230769	A	G	66230769	2	3	100	1	0	0	0	0	0	0	0	1	5208	407	15	5		5	EPHA5	4	66230769	Silent	SNP	A	TCGA-CN-6021-01A-11D-1683-08		66230769	124923507	69	19187											
PDHA2	5161	broad.mit.edu	37	chr4	96761669	96761669	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagggctcatggtgtgtgctAtactcggggactttctgtcc	5	14	13	9	1	2	0	1	0	1	0	4	1	3	1	1	4	2	2	1	4	3	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:96761669A>G	ENST00000295266.4	+	1	431	c.368A>G	c.(367-369)tAt>tGt	p.Y123C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	123					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGTGTGTGCTATACTCGGGGA	0.522													13	39					0	0	0	0	G	96761669	A	G	96761669	3	3	100	1	0	0	0	0	1	0	0	0	11736	449	16	5	370	5	PDHA2	4	96761669	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	30530900	96761669	94392607	70	19188											
CENPE	1062	broad.mit.edu	37	chr4	104060953	104060953	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actctgaactcactctagctAtcatttcccttaaggttgct	9	15	5	12	0	4	1	2	1	2	0	5	1	5	1	1	1	3	3	1	1	4	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:104060953A>T	ENST00000265148.3	-	38	6286	c.6197T>A	c.(6196-6198)aTa>aAa	p.I2066K	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2066					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CACTCTAGCTATCATTTCCCT	0.313													25	29					0	0	0	0	T	104060953	A	T	104060953	3	4	100	1	0	0	0	0	1	0	0	0	3259	449	16	5	1956	5	CENPE	4	104060953	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	7299284	104060953	87093323	71	19189											
CENPE	1062	broad.mit.edu	37	chr4	104079563	104079563	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtattaattgtttcttgaTgttgtttcagagactcaaga	10	18	9	4	0	3	3	2	1	1	2	3	4	3	3	0	0	0	4	0	0	3	7			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:104079563T>A	ENST00000265148.3	-	24	3016	c.2927A>T	c.(2926-2928)cAt>cTt	p.H976L	CENPE_ENST00000380026.3_Missense_Mutation_p.H951L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	976					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTTTCTTGATGTTGTTTCAG	0.284													8	3					0	0	0	0	A	104079563	T	A	104079563	3	1	100	1	0	0	0	0	1	0	0	0	3259	1464	51	5	5282	5	CENPE	4	104079563	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	18610	104079563	87074713	72	19190											
TACR3	6870	broad.mit.edu	37	chr4	104579544	104579544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtctgggtttcaagggatCaataatagccatatacctat	13	12	8	8	0	3	0	2	0	1	0	3	1	3	1	2	2	2	1	2	2	7	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:104579544C>T	ENST00000304883.2	-	2	705	c.565G>A	c.(565-567)Gat>Aat	p.D189N		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	189						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTCAAGGGATCAATAATAGCC	0.353													6	23					0	0	0	0	T	104579544	C	T	104579544	3	4	100	1	0	0	0	0	1	0	0	0	15598	826	29	2	848	2	TACR3	4	104579544	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	499981	104579544	86574732	73	19191											
ANK2	287	broad.mit.edu	37	chr4	114278600	114278601	+	Frame_Shift_Ins	INS	-	-	A																															ttttctctagtgaagaaagcINSaaaacccaaacagatgcaaa																										TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:114278600_114278601insA	ENST00000357077.4	+	38	8879_8880	c.8826_8827insA	c.(8824-8829)agaaacfs	p.N2943fs	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.N2910fs|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2910					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTGAAGAAAGCAAAACCCAAAC	0.416													77	110	---	---	---	---					A	114278601	-	A	114278600	7	5	100	1	0	1	1	0	0	0	0	0	621	709	25	0	9041	0	ANK2	4	114278600	Frame_Shift_Ins	INS	-	TCGA-CN-6021-01A-11D-1683-08	9699056	114278600	76875676	74	19192											
PRDM5	11107	broad.mit.edu	37	chr4	121631548	121631548	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggccttgctgcactcTgagcacttgtacggcttctc	6	12	10	13	1	2	2	0	2	2	0	3	2	2	2	1	2	4	5	1	2	2	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:121631548T>A	ENST00000515109.1	-	13	1721	c.1465A>T	c.(1465-1467)Aga>Tga	p.R489*	PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000428209.2_Silent_p.S517S|PRDM5_ENST00000264808.3_Silent_p.S548S			Q9NQX1	PRDM5_HUMAN	PR domain containing 5	0					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCTGCACTCTGAGCACTTGT	0.473													9	21					0	0	0	0	A	121631548	T	A	121631548	4	1	100	1	0	0	0	0	0	1	0	0	12540	1567	55	5	256	5	PRDM5	4	121631548	Nonsense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	7352948	121631548	69522728	75	19193											
KIAA1109	84162	broad.mit.edu	37	chr4	123107289	123107289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgccttcaagagttgtttGgtttggagccaacaataatt	11	13	10	7	1	1	1	1	0	0	1	1	3	1	2	2	2	2	3	2	2	4	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:123107289G>T	ENST00000264501.4	+	7	830	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C	KIAA1109_ENST00000455637.1_Missense_Mutation_p.G153C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.G153C			Q2LD37	K1109_HUMAN	KIAA1109	153					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAGTTGTTTGGTTTGGAGCC	0.378													16	26					3.41278e-10	4.15186e-10	1	0	T	123107289	G	T	123107289	3	4	100	1	0	0	0	0	1	0	0	0	8259	1348	47	4	475	4	KIAA1109	4	123107289	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	1475741	123107289	68046987	76	19194											
SPOCK3	50859	broad.mit.edu	37	chr4	167656083	167656083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatcaatcaaatgtataCatcatggtcatcaccaccat	14	12	4	11	0	6	0	6	0	0	0	6	0	6	0	2	1	1	1	2	1	4	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:167656083C>T	ENST00000357154.3	-	12	1437	c.1300G>A	c.(1300-1302)Gta>Ata	p.V434I	SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Missense_Mutation_p.V434I|SPOCK3_ENST00000421836.2_Missense_Mutation_p.V383I|SPOCK3_ENST00000534949.1_Missense_Mutation_p.V338I|SPOCK3_ENST00000541354.1_Missense_Mutation_p.V314I|SPOCK3_ENST00000512681.1_Missense_Mutation_p.V336I|SPOCK3_ENST00000504953.1_Missense_Mutation_p.V431I|SPOCK3_ENST00000511531.1_Missense_Mutation_p.V434I|SPOCK3_ENST00000535728.1_Missense_Mutation_p.V302I|SPOCK3_ENST00000511269.1_Missense_Mutation_p.V431I|SPOCK3_ENST00000357545.4_Missense_Mutation_p.V431I|SPOCK3_ENST00000510741.1_Missense_Mutation_p.V391I|SPOCK3_ENST00000502330.1_Missense_Mutation_p.V434I|SPOCK3_ENST00000541637.1_Missense_Mutation_p.V336I	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	434	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		caaatgtatacatcatggtca	0.303													20	23					0	0	0	0	T	167656083	C	T	167656083	3	4	100	1	0	0	0	0	1	0	0	0	15171	478	17	4	14	4	SPOCK3	4	167656083	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	44548794	167656083	23498193	77	19195											
SH3RF1	57630	broad.mit.edu	37	chr4	170017675	170017675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtcagtctcctcataTgttttccacaaagcttcctg	8	15	6	12	0	4	0	3	0	1	0	7	0	6	0	3	0	1	2	3	0	2	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:170017675T>C	ENST00000284637.9	-	12	3003	c.2662A>G	c.(2662-2664)Ata>Gta	p.I888V		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	888	SH3 4.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCTCCTCATATGTTTTCCACA	0.403													31	47					0	0	0	0	C	170017675	T	C	170017675	3	2	100	1	0	0	0	0	1	0	0	0	14346	1464	51	5	8	5	SH3RF1	4	170017675	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	2361592	170017675	21136601	78	19196											
EXOC3	11336	broad.mit.edu	37	chr5	466943	466943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggcccagcacaggccaGccccagctacgtgcccctct	7	4	11	19	1	1	0	0	0	1	0	1	0	1	0	6	2	5	3	6	2	1	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:466943G>A	ENST00000512944.1	+	13	2357	c.2168G>A	c.(2167-2169)aGc>aAc	p.S723N	EXOC3_ENST00000315013.5_Missense_Mutation_p.S723N|CTD-2228K2.5_ENST00000510714.1_Intron	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	734					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCACAGGCCAGCCCCAGCTAC	0.662													4	17					0	0	0	0	A	466943	G	A	466943	3	1	100	1	0	0	0	0	1	0	0	0	5340	971	34	4	2214	4	EXOC3	5	466943	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08		466943	180448317	79	19197											
SEMA5A	9037	broad.mit.edu	37	chr5	9154604	9154604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagatgccctacctgcGtgtgcggtagaactggcacc	7	7	13	14	3	0	2	0	0	0	2	0	3	0	2	4	3	5	2	4	3	3	2	rs149803731		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:9154604G>A	ENST00000382496.5	-	12	2142	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	493					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCCTACCTGCGTGTGCGGTAG	0.617													19	39					0	0	0	0	A	9154604	G	A	9154604	3	1	100	1	0	0	0	0	1	0	0	0	14124	1145	40	1	1795	1	SEMA5A	5	9154604	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	8687661	9154604	171760656	80	19198											
CTNND2	1501	broad.mit.edu	37	chr5	11346593	11346593	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacagagggacaatactGcagctgtcggtaggggtccg	10	7	14	10	2	1	1	1	0	0	1	3	2	2	2	1	4	4	3	1	4	4	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:11346593G>A	ENST00000304623.8	-	9	1708	c.1519C>T	c.(1519-1521)Cag>Tag	p.Q507*	CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q507*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q170*|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.Q74*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q416*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	507					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGACAATACTGCAGCTGTCGG	0.627													23	86					0	0	0	0	A	11346593	G	A	11346593	4	1	100	1	0	0	0	0	0	1	0	0	4052	1328	46	4	2214	4	CTNND2	5	11346593	Nonsense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	2191989	11346593	169568667	81	19199											
DNAH5	1767	broad.mit.edu	37	chr5	13721172	13721172	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctggcccatggacacAtaacgggtttctatttttaa	9	13	9	10	1	1	0	0	0	1	0	1	1	1	1	2	4	1	1	2	4	3	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:13721172A>T	ENST00000265104.4	-	71	12320	c.12216T>A	c.(12214-12216)taT>taA	p.Y4072*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4072	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATGGACACATAACGGGTTT	0.517									Kartagener syndrome				25	62					0	0	0	0	T	13721172	A	T	13721172	4	4	100	1	0	0	0	0	0	1	0	0	4641	224	8	5	1694	5	DNAH5	5	13721172	Nonsense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	2374579	13721172	167194088	82	19200											
DNAH5	1767	broad.mit.edu	37	chr5	13845071	13845071	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgagacgaagaaaaaccGaggaaagcacagtcgttttt	16	8	10	7	3	1	2	0	1	1	2	2	6	1	3	1	1	2	2	1	1	4	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:13845071G>T	ENST00000265104.4	-	32	5250	c.5146C>A	c.(5146-5148)Cgg>Agg	p.R1716R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1716	Stem (By similarity).		R -> L (in CILD3).		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGAAAAACCGAGGAAAGCAC	0.443									Kartagener syndrome				17	50					1.67942e-08	1.94405e-08	1	0	T	13845071	G	T	13845071	2	4	100	1	0	0	0	0	0	0	0	1	4641	1057	37	3		3	DNAH5	5	13845071	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	123899	13845071	167070189	83	19201											
PRDM9	56979	broad.mit.edu	37	chr5	23510090	23510090	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggccatcaaactccaggtGgatgacacagaagattctga	14	7	10	10	0	2	4	1	2	1	2	3	5	3	5	2	3	1	0	2	3	2	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:23510090G>T	ENST00000296682.3	+	4	437	c.255G>T	c.(253-255)gtG>gtT	p.V85V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	85	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AACTCCAGGTGGATGACACAG	0.423										HNSCC(3;0.000094)			15	35					0.000566183	0.000587723	1	0	T	23510090	G	T	23510090	2	4	100	1	0	0	0	0	0	0	0	1	12543	1335	47	4		4	PRDM9	5	23510090	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	9665019	23510090	157405170	84	19202											
CARD6	84674	broad.mit.edu	37	chr5	40853726	40853726	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcagagcagaggcctaaGtggttccatcctttgccttt	7	12	12	10	0	1	2	1	0	0	2	3	2	3	2	4	3	2	2	4	3	1	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:40853726G>A	ENST00000254691.5	+	3	2491	c.2292G>A	c.(2290-2292)aaG>aaA	p.K764K	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	764					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGAGGCCTAAGTGGTTCCATC	0.488													60	128					0	0	0	0	A	40853726	G	A	40853726	2	1	100	1	0	0	0	0	0	0	0	1	2675	1020	36	4		4	CARD6	5	40853726	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	17343636	40853726	140061534	85	19203											
ELOVL7	79993	broad.mit.edu	37	chr5	60067895	60067895	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggcagaggcgaggacatGaggagccaatcttcaactct	11	8	13	9	1	3	2	1	1	2	1	3	5	3	4	1	4	2	1	1	4	2	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:60067895G>A	ENST00000505959.1	-	6	577	c.51C>T	c.(49-51)ctC>ctT	p.L17L	ELOVL7_ENST00000438340.1_Silent_p.L30L|ELOVL7_ENST00000508821.1_Silent_p.L30L|ELOVL7_ENST00000425382.1_Silent_p.L30L			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	30					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GCGAGGACATGAGGAGCCAAT	0.438													6	24					0	0	0	0	A	60067895	G	A	60067895	2	1	100	1	0	0	0	0	0	0	0	1	5117	1277	45	2		2	ELOVL7	5	60067895	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	19214169	60067895	120847365	86	19204											
CHD1	1105	broad.mit.edu	37	chr5	98193970	98193970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttcctggaatcacttttTttgtaagaatctccctgatg	8	18	6	9	0	2	2	1	1	1	1	4	3	3	3	2	1	0	1	2	1	3	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:98193970T>A	ENST00000284049.3	-	34	4850	c.4701A>T	c.(4699-4701)aaA>aaT	p.K1567N		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1567					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AATCACTTTTTTTGTAAGAAT	0.403													60	76					0	0	0	0	A	98193970	T	A	98193970	3	1	100	1	0	0	0	0	1	0	0	0	3352	1838	64	5	439	5	CHD1	5	98193970	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	38126075	98193970	82721290	87	19205											
DMXL1	1657	broad.mit.edu	37	chr5	118500343	118500343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggtggtgggtccggaataCccgcatcttacgcaaatgca	9	8	14	10	3	1	0	0	0	1	0	2	1	2	1	2	5	3	3	2	5	4	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:118500343C>T	ENST00000311085.8	+	20	4924	c.4844C>T	c.(4843-4845)aCc>aTc	p.T1615I	DMXL1_ENST00000539542.1_Missense_Mutation_p.T1615I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1615										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTCCGGAATACCCGCATCTTA	0.403													25	36					0	0	0	0	T	118500343	C	T	118500343	3	4	100	1	0	0	0	0	1	0	0	0	4631	507	18	4	4922	4	DMXL1	5	118500343	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	20306373	118500343	62414917	88	19206											
PCDHB7	56129	broad.mit.edu	37	chr5	140554405	140554405	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgctgcacgtgctcctggtGgacggcttctcccagcccta	5	9	11	16	3	1	0	0	0	1	0	3	1	2	1	3	3	3	4	3	3	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:140554405G>T	ENST00000231137.3	+	1	2163	c.1989G>T	c.(1987-1989)gtG>gtT	p.V663V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		663	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGGTGGACGGCTTCT	0.697													13	45					9.16793e-09	1.06773e-08	1	0	T	140554405	G	T	140554405	2	4	100	1	0	0	0	0	0	0	0	1	11618	1335	47	4		4	PCDHB7	5	140554405	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	22054062	140554405	40360855	89	19207											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719024	140719024	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgcgcatgatgcagacgtAggtgagaacgcccttcagaa	13	7	12	9	3	1	4	1	2	0	3	1	5	1	4	1	1	3	3	1	1	4	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:140719024A>T	ENST00000394576.2	+	1	486	c.486A>T	c.(484-486)gtA>gtT	p.V162V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCAGACGTAGGTGAGAACG	0.522													30	33					0	0	0	0	T	140719024	A	T	140719024	2	4	100	1	0	0	0	0	0	0	0	1	11625	407	15	5		5	PCDHGA2	5	140719024	Silent	SNP	A	TCGA-CN-6021-01A-11D-1683-08	164619	140719024	40196236	90	19208											
TCERG1	10915	broad.mit.edu	37	chr5	145850238	145850238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taaagagccaattaaagaacCctctgaagagcctctgccaa	16	7	7	11	0	2	4	0	1	2	3	2	4	2	4	4	0	4	0	4	0	8	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:145850238C>T	ENST00000296702.5	+	8	1477	c.1439C>T	c.(1438-1440)cCc>cTc	p.P480L	TCERG1_ENST00000394421.2_Missense_Mutation_p.P459L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	480	Glu-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTAAAGAACCCTCTGAAGAG	0.388													13	24					0	0	0	0	T	145850238	C	T	145850238	3	4	100	1	0	0	0	0	1	0	0	0	15779	623	22	4	1469	4	TCERG1	5	145850238	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	5131214	145850238	35065022	91	19209											
PDGFRB	5159	broad.mit.edu	37	chr5	149497184	149497184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggccagggtggttacctgGctaggctgggggaaccctcc	6	7	16	12	0	0	0	0	0	0	0	1	1	1	1	4	7	2	3	4	7	3	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:149497184G>T	ENST00000261799.4	-	22	3603	c.3134C>A	c.(3133-3135)gCc>gAc	p.A1045D		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1045					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTTACCTGGCTAGGCTGGG	0.632			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								21	20					2.21704e-12	2.79507e-12	1	0	T	149497184	G	T	149497184	3	4	100	1	0	0	0	0	1	0	0	0	11733	1203	42	4	194	4	PDGFRB	5	149497184	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	3646946	149497184	31418076	92	19210											
ARSI	340075	broad.mit.edu	37	chr5	149677228	149677228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttccactcacccacgCggatggcagcctgcacggcg	7	5	12	17	4	1	0	1	0	0	0	2	1	2	1	3	3	3	4	3	3	0	1	rs147847092		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:149677228C>T	ENST00000328668.7	-	2	1838	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	420						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCACCCACGCGGATGGCAGC	0.622													15	45					0	0	0	0	T	149677228	C	T	149677228	3	4	100	1	0	0	0	0	1	0	0	0	998	768	27	1	454	1	ARSI	5	149677228	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	180044	149677228	31238032	93	19211											
IL17F	112744	broad.mit.edu	37	chr6	52101905	52101905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttgagcattgatgcagcCcaagttcctacactgggcct	8	11	9	13	0	0	2	0	2	0	0	2	2	2	2	4	1	4	3	4	1	2	4	rs146083682		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:52101905C>A	ENST00000336123.4	-	3	423	c.316G>T	c.(316-318)Ggc>Tgc	p.G106C		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	106					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TTGATGCAGCCCAAGTTCCTA	0.557													8	18					0.000274275	0.000286265	1	0	A	52101905	C	A	52101905	3	1	100	1	0	0	0	0	1	0	0	0	7691	623	22	4	179	4	IL17F	6	52101905	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08		52101905	119013162	94	19212											
BAI3	577	broad.mit.edu	37	chr6	69685160	69685160	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctctctcagtcttcaTggagtggccttctgggaaca	6	12	11	12	1	5	0	2	0	3	0	6	2	5	2	1	3	2	2	1	3	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:69685160T>A	ENST00000370598.1	+	10	2483	c.1662T>A	c.(1660-1662)caT>caA	p.H554Q		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	554					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCAGTCTTCATGGAGTGGCCT	0.468													11	41					0	0	0	0	A	69685160	T	A	69685160	3	1	100	1	0	0	0	0	1	0	0	0	1304	1461	51	5	1692	5	BAI3	6	69685160	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	17583255	69685160	101429907	95	19213											
BAI3	577	broad.mit.edu	37	chr6	70042897	70042897	+	Frame_Shift_Del	DEL	C	C	-																															taaaaagctcaaacacagagCcgggtaagctgcaattggtg																										TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:70042897delC	ENST00000370598.1	+	24	4006	c.3185delC	c.(3184-3186)gcfs	p.A1062fs	BAI3_ENST00000546190.1_Frame_Shift_Del_p.A26fs|BAI3_ENST00000238918.8_Frame_Shift_Del_p.A268fs	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1062					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAACACAGAGCCGGGTAAGCT	0.388													16	28	---	---	---	---					-	70042897	C	-	70042897	7	5	100	1	0	1	0	1	0	0	0	0	1304	739	26	0	3271	0	BAI3	6	70042897	Frame_Shift_Del	DEL	C	TCGA-CN-6021-01A-11D-1683-08	357737	70042897	101072170	96	19214											
IMPG1	3617	broad.mit.edu	37	chr6	76660760	76660760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgccataaagaaaggtGgagcttctgacagggaggta	13	9	14	5	0	1	3	0	2	1	1	1	5	1	5	1	4	2	2	1	4	4	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:76660760G>A	ENST00000369950.3	-	13	1532	c.1343C>T	c.(1342-1344)cCa>cTa	p.P448L	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	448					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGAAAGGTGGAGCTTCTGA	0.473													14	49					0	0	0	0	A	76660760	G	A	76660760	3	1	100	1	0	0	0	0	1	0	0	0	7781	1348	47	4	1070	4	IMPG1	6	76660760	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	6617863	76660760	94454307	97	19215											
C6orf165	154313	broad.mit.edu	37	chr6	88125575	88125575	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccctacagacatcaagaCtgtcagagaggtaacaggta	15	7	9	10	0	2	3	2	0	0	3	3	4	3	3	2	2	2	2	2	2	4	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:88125575C>G	ENST00000507897.1	+	5	538	c.455C>G	c.(454-456)aCt>aGt	p.T152S	C6ORF165_ENST00000369562.4_Missense_Mutation_p.T152S			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	152										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GACATCAAGACTGTCAGAGAG	0.363													7	53					0	0	0	0	G	88125575	C	G	88125575	3	3	100	1	0	0	0	0	1	0	0	0	2362	565	20	4	469	4	C6orf165	6	88125575	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	11464815	88125575	82989492	98	19216											
ANKRD6	22881	broad.mit.edu	37	chr6	90340371	90340371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagatctgatcagcaggctgGgccctgcgtcaacagaggca	10	6	13	12	1	3	3	2	1	1	2	3	3	3	3	1	3	3	3	1	3	1	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:90340371G>T	ENST00000369408.5	+	15	2076	c.1727G>T	c.(1726-1728)gGg>gTg	p.G576V	ANKRD6_ENST00000520793.1_Missense_Mutation_p.G547V|ANKRD6_ENST00000522441.1_Missense_Mutation_p.G611V|ANKRD6_ENST00000339746.4_Missense_Mutation_p.G611V|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.G606V	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	611							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CAGCAGGCTGGGCCCTGCGTC	0.582													6	10					0.00116845	0.00119664	1	0	T	90340371	G	T	90340371	3	4	100	1	0	0	0	0	1	0	0	0	684	1232	43	4	1875	4	ANKRD6	6	90340371	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	2214796	90340371	80774696	99	19217											
GPR63	81491	broad.mit.edu	37	chr6	97246721	97246721	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctggaaaggtctctgcAgactcatgagacccagtttg	10	11	10	10	0	4	2	2	1	2	2	5	4	4	3	1	2	1	2	1	2	1	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:97246721A>T	ENST00000229955.3	-	2	1232	c.887T>A	c.(886-888)cTg>cAg	p.L296Q	GPR63_ENST00000417980.1_Missense_Mutation_p.L296Q	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	296						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGGTCTCTGCAGACTCATGAG	0.498													18	56					0	0	0	0	T	97246721	A	T	97246721	3	4	100	1	0	0	0	0	1	0	0	0	6753	188	7	5	376	5	GPR63	6	97246721	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	6906350	97246721	73868346	100	19218											
ZBTB24	9841	broad.mit.edu	37	chr6	109802666	109802666	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctattctgaactgaattgttCactcttaactgtatttcttc	9	19	4	9	0	4	2	1	2	3	0	5	2	4	2	0	0	2	2	0	0	5	8			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:109802666C>G	ENST00000230122.3	-	2	731	c.564G>C	c.(562-564)gtG>gtC	p.V188V		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTGAATTGTTCACTCTTAACT	0.413													65	187					0	0	0	0	G	109802666	C	G	109802666	2	3	100	1	0	0	0	0	0	0	0	1	17626	813	29	2		2	ZBTB24	6	109802666	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	12555945	109802666	61312401	101	19219											
TUBE1	51175	broad.mit.edu	37	chr6	112397183	112397183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccacaatgttattcattgCatcaaagggcttcttatgct	10	15	7	9	0	3	0	2	0	1	0	3	0	3	0	1	1	3	4	1	1	4	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:112397183C>G	ENST00000368662.5	-	8	847	c.769G>C	c.(769-771)Gca>Cca	p.A257P	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	257					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TTATTCATTGCATCAAAGGGC	0.383													59	89					0	0	0	0	G	112397183	C	G	112397183	3	3	100	1	0	0	0	0	1	0	0	0	16859	710	25	4	678	4	TUBE1	6	112397183	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	2594517	112397183	58717884	102	19220											
RFX6	222546	broad.mit.edu	37	chr6	117248568	117248568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atataactcccggccaccgtCtagctatggcccatccctgc	8	9	7	17	2	1	0	0	0	1	0	3	0	3	0	5	2	3	1	5	2	4	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:117248568C>T	ENST00000332958.2	+	17	2280	c.2264C>T	c.(2263-2265)tCt>tTt	p.S755F		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	755					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CGGCCACCGTCTAGCTATGGC	0.517													14	36					0	0	0	0	T	117248568	C	T	117248568	3	4	100	1	0	0	0	0	1	0	0	0	13349	913	32	2	2330	2	RFX6	6	117248568	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	4851385	117248568	53866499	103	19221											
FABP7	2173	broad.mit.edu	37	chr6	123102351	123102351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttatggtaagtaatgaCaattctccattcttccttgt	10	17	7	7	0	2	1	0	1	2	0	4	1	3	1	2	2	0	3	2	2	4	7			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:123102351C>A	ENST00000356535.4	+	3	396	c.360C>A	c.(358-360)gaC>gaA	p.D120E	FABP7_ENST00000368444.3_Intron			O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	0					negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)	TAAGTAATGACAATTCTCCAT	0.408													9	21					1.08611e-07	1.23849e-07	1	0	A	123102351	C	A	123102351	3	1	100	1	0	0	0	0	1	0	0	0	5403	493	17	4		4	FABP7	6	123102351	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	5853783	123102351	48012716	104	19222											
VNN1	8876	broad.mit.edu	37	chr6	133015242	133015242	+	Frame_Shift_Del	DEL	C	C	-																															ggtatcgcatggcttcttgtCcccaatatttgccacaacat																										TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:133015242delC	ENST00000367928.4	-	3	434	c.421delG	c.(421-423)acfs	p.D141fs		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	141	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GGCTTCTTGTCCCCAATATTT	0.468													35	78	---	---	---	---					-	133015242	C	-	133015242	7	5	100	1	0	1	0	1	0	0	0	0	17278	855	30	0	1140	0	VNN1	6	133015242	Frame_Shift_Del	DEL	C	TCGA-CN-6021-01A-11D-1683-08	9912891	133015242	38099825	105	19223											
EYA4	2070	broad.mit.edu	37	chr6	133846378	133846378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggatggtgtagaagaagaaCaggcagcaaaaaaggtaacc	18	4	14	5	0	0	3	0	0	0	3	0	4	0	4	1	4	3	4	1	4	8	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:133846378C>A	ENST00000367895.5	+	19	2289	c.1825C>A	c.(1825-1827)Cag>Aag	p.Q609K	EYA4_ENST00000525849.1_Intron|EYA4_ENST00000355167.3_Intron|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Intron|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000531901.1_Missense_Mutation_p.Q615K|EYA4_ENST00000355286.6_Missense_Mutation_p.Q586K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	609					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGAAGAAGAACAGGCAGCAAA	0.393													18	34					4.35082e-09	5.12967e-09	1	0	A	133846378	C	A	133846378	3	1	100	1	0	0	0	0	1	0	0	0	5369	479	17	4	2000	4	EYA4	6	133846378	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	831136	133846378	37268689	106	19224											
SASH1	23328	broad.mit.edu	37	chr6	148869664	148869664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatctgcagccagactcttCaaactgccgccaggccctga	9	8	8	16	1	3	2	1	1	2	1	3	2	3	2	4	1	4	1	4	1	2	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:148869664C>T	ENST00000367467.3	+	20	4189	c.3714C>T	c.(3712-3714)ttC>ttT	p.F1238F		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1238	SAM 2.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCAGACTCTTCAAACTGCCGC	0.557													26	79					0	0	0	0	T	148869664	C	T	148869664	2	4	100	1	0	0	0	0	0	0	0	1	13934	825	29	2		2	SASH1	6	148869664	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	15023286	148869664	22245403	107	19225											
SYNE1	23345	broad.mit.edu	37	chr6	152658020	152658020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaatgttcagctccagctCagagtgcctcctcttcatgt	7	13	8	13	0	4	1	3	0	1	1	6	1	6	1	3	0	4	4	3	0	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:152658020C>T	ENST00000367255.5	-	76	13085	c.12484G>A	c.(12484-12486)Gag>Aag	p.E4162K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E4091K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4091K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4027K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4162K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4162					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCCAGCTCAGAGTGCCTC	0.473										HNSCC(10;0.0054)			22	104					0	0	0	0	T	152658020	C	T	152658020	3	4	100	1	0	0	0	0	1	0	0	0	15536	835	29	2	14266	2	SYNE1	6	152658020	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	3788356	152658020	18457047	108	19226											
SLC22A1	6580	broad.mit.edu	37	chr6	160543205	160543205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgccaggcctggggcccGcgggcgaggccttccttggc	3	6	17	15	3	0	0	0	0	0	0	1	1	1	0	5	6	1	0	5	6	0	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:160543205G>T	ENST00000366963.4	+	1	385	c.238G>T	c.(238-240)Gcg>Tcg	p.A80S	SLC22A1_ENST00000324965.4_Missense_Mutation_p.A80S|SLC22A1_ENST00000457470.2_Missense_Mutation_p.A80S	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	80						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCTGGGGCCCGCGGGCGAGGC	0.662													24	83					2.21704e-12	2.79507e-12	1	0	T	160543205	G	T	160543205	3	4	100	1	0	0	0	0	1	0	0	0	14528	1087	38	3	240	3	SLC22A1	6	160543205	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	7885185	160543205	10571862	109	19227											
PARK2	5071	broad.mit.edu	37	chr6	162683677	162683677	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgagtcaagctctggggctCccgctcacagcctcccgccg	5	6	11	19	4	3	0	2	0	1	0	5	1	5	0	5	2	2	3	5	2	1	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:162683677C>A	ENST00000366898.1	-	3	394	c.292G>T	c.(292-294)Gag>Tag	p.E98*	PARK2_ENST00000366897.1_Nonsense_Mutation_p.E98*|PARK2_ENST00000366892.1_Nonsense_Mutation_p.E98*|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366896.1_Intron	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	98					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTCTGGGGCTCCCGCTCACAG	0.587													17	45					0.00074312	0.000765153	1	0	A	162683677	C	A	162683677	4	1	100	1	0	0	0	0	0	1	0	0	11520	864	30	2	1145	2	PARK2	6	162683677	Nonsense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	2140472	162683677	8431390	110	19228											
PARK2	5071	broad.mit.edu	37	chr6	162683729	162683729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgcctccagttgcattCatttcttgaccttttctcca	5	17	5	14	2	3	1	1	1	2	0	7	1	4	1	4	0	1	2	4	0	0	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:162683729C>A	ENST00000366898.1	-	3	342	c.240G>T	c.(238-240)atG>atT	p.M80I	PARK2_ENST00000366897.1_Missense_Mutation_p.M80I|PARK2_ENST00000366892.1_Missense_Mutation_p.M80I|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366896.1_Intron	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	80					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAGTTGCATTCATTTCTTGAC	0.527													12	39					4.36969e-10	5.29912e-10	1	0	A	162683729	C	A	162683729	3	1	100	1	0	0	0	0	1	0	0	0	11520	826	29	2	1197	2	PARK2	6	162683729	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	52	162683729	8431338	111	19229											
MLLT4	4301	broad.mit.edu	37	chr6	168347424	168347424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggtaaaccccgaccaaaGagtgaaggctttgagctcta	13	8	10	10	1	2	3	1	2	1	1	2	4	2	3	3	2	2	3	3	2	5	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:168347424G>C	ENST00000366806.2	+	27	3517	c.3375G>C	c.(3373-3375)aaG>aaC	p.K1125N	MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000344191.4_Missense_Mutation_p.K1125N|MLLT4_ENST00000351017.4_Missense_Mutation_p.K1132N|MLLT4_ENST00000447894.2_Missense_Mutation_p.K1125N|MLLT4_ENST00000400822.3_Missense_Mutation_p.K1124N|MLLT4_ENST00000392108.3_Missense_Mutation_p.K1125N|MLLT4_ENST00000392112.1_Missense_Mutation_p.K1108N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1125					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.S1126_E1130delSEGFE(1)|p.S1110_E1114delSEGFE(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCCGACCAAAGAGTGAAGGCT	0.403			T	MLL	AL								26	52					0	0	0	0	C	168347424	G	C	168347424	3	2	100	1	0	0	0	0	1	0	0	0	9698	933	33	2	3477	2	MLLT4	6	168347424	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	5663695	168347424	2767643	112	19230											
THSD7A	221981	broad.mit.edu	37	chr7	11676343	11676343	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcttcccccttaatgcActcaagaggtttctctaggc	8	13	6	14	0	3	1	1	0	2	1	5	1	4	1	3	2	1	2	3	2	3	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:11676343A>T	ENST00000423059.3	-	2	687	c.436T>A	c.(436-438)Tgc>Agc	p.C146S	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	146						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCCTTAATGCACTCAAGAGGT	0.473										HNSCC(18;0.044)			15	44					0	0	0	0	T	11676343	A	T	11676343	3	4	100	1	0	0	0	0	1	0	0	0	15973	159	6	5	4641	5	THSD7A	7	11676343	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08		11676343	147462320	113	19231											
HDAC9	9734	broad.mit.edu	37	chr7	18687533	18687533	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccctcatgttactttagaGggaaagccacccaacagcag	13	7	8	13	0	1	1	1	0	0	1	1	2	1	2	3	1	4	2	3	1	4	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:18687533G>C	ENST00000406451.3	+	10	1302	c.1152G>C	c.(1150-1152)gaG>gaC	p.E384D	HDAC9_ENST00000456174.2_Missense_Mutation_p.E356D|HDAC9_ENST00000406072.1_Missense_Mutation_p.E371D|HDAC9_ENST00000401921.1_Missense_Mutation_p.E343D|HDAC9_ENST00000524023.1_Missense_Mutation_p.E307D|HDAC9_ENST00000417496.2_Missense_Mutation_p.E382D|HDAC9_ENST00000405010.3_Missense_Mutation_p.E384D|HDAC9_ENST00000441542.2_Missense_Mutation_p.E387D|HDAC9_ENST00000432645.2_Missense_Mutation_p.E384D|HDAC9_ENST00000428307.2_Missense_Mutation_p.E340D	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	384					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTACTTTAGAGGGAAAGCCAC	0.498													6	7					0	0	0	0	C	18687533	G	C	18687533	3	2	100	1	0	0	0	0	1	0	0	0	7064	991	35	4	1195	4	HDAC9	7	18687533	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	7011190	18687533	140451130	114	19232											
BBS9	27241	broad.mit.edu	37	chr7	33217197	33217197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctatggatcatttggtggtGtaaaaggtaatttgctttta	10	17	10	4	0	1	0	1	0	0	0	1	1	1	1	1	4	1	3	1	4	5	7			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:33217197G>T	ENST00000242067.6	+	5	957	c.436G>T	c.(436-438)Gta>Tta	p.V146L	BBS9_ENST00000396127.2_Missense_Mutation_p.V146L|BBS9_ENST00000355070.2_Missense_Mutation_p.V146L|BBS9_ENST00000350941.3_Missense_Mutation_p.V146L|BBS9_ENST00000354265.4_Missense_Mutation_p.V146L|BBS9_ENST00000425508.2_Missense_Mutation_p.V101L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	146					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATTTGGTGGTGTAAAAGGTAA	0.353									Bardet-Biedl syndrome				28	53					6.07407e-21	8.46823e-21	1	0	T	33217197	G	T	33217197	3	4	100	1	0	0	0	0	1	0	0	0	1346	1377	48	4	450	4	BBS9	7	33217197	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	14529664	33217197	125921466	115	19233											
ELMO1	9844	broad.mit.edu	37	chr7	36934481	36934481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcgggcgggactggaaatCttcctggttcatcctctcgg	7	11	12	11	3	3	0	1	0	2	0	7	2	5	2	2	5	0	1	2	5	2	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:36934481C>T	ENST00000310758.4	-	17	2226	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	ELMO1_ENST00000442504.1_Missense_Mutation_p.D527N|ELMO1_ENST00000396045.3_Missense_Mutation_p.D47N|ELMO1_ENST00000448602.1_Missense_Mutation_p.D527N|ELMO1_ENST00000341056.3_Missense_Mutation_p.D229N|ELMO1_ENST00000396040.2_Missense_Mutation_p.D47N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	527					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GACTGGAAATCTTCCTGGTTC	0.478													16	50					0	0	0	0	T	36934481	C	T	36934481	3	4	100	1	0	0	0	0	1	0	0	0	5103	913	32	2	628	2	ELMO1	7	36934481	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	3717284	36934481	122204182	116	19234											
POLM	27434	broad.mit.edu	37	chr7	44119312	44119312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcactgccttcaaagcctGctgcctcggccagtatctcc	6	10	7	18	1	3	0	2	0	1	0	5	0	3	0	6	1	4	2	6	1	2	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:44119312G>A	ENST00000242248.5	-	4	601	c.500C>T	c.(499-501)gCa>gTa	p.A167V	POLM_ENST00000395831.3_Missense_Mutation_p.A167V|POLM_ENST00000335195.6_Missense_Mutation_p.A167V	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	167					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						TTCAAAGCCTGCTGCCTCGGC	0.652								DNA polymerases (catalytic subunits)					19	41					0	0	0	0	A	44119312	G	A	44119312	3	1	100	1	0	0	0	0	1	0	0	0	12278	1319	46	4	1016	4	POLM	7	44119312	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	7184831	44119312	115019351	117	19235											
OGDH	4967	broad.mit.edu	37	chr7	44733439	44733439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatcggcttcaccaccGaccctcggatggcccgctcc	6	7	10	18	4	1	1	1	0	0	1	4	3	2	2	5	3	1	3	5	3	0	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:44733439G>T	ENST00000222673.5	+	11	1393	c.1351G>T	c.(1351-1353)Gac>Tac	p.D451Y	OGDH_ENST00000444676.1_Missense_Mutation_p.D466Y|OGDH_ENST00000449767.1_Missense_Mutation_p.D447Y|OGDH_ENST00000543843.1_Missense_Mutation_p.D402Y|OGDH_ENST00000447398.1_Missense_Mutation_p.D462Y|OGDH_ENST00000439616.2_Missense_Mutation_p.D301Y	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	451					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CTTCACCACCGACCCTCGGAT	0.647													8	12					3.09899e-07	3.49207e-07	1	0	T	44733439	G	T	44733439	3	4	100	1	0	0	0	0	1	0	0	0	10910	1058	37	3	1562	3	OGDH	7	44733439	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	614127	44733439	114405224	118	19236											
ABCA13	154664	broad.mit.edu	37	chr7	48314857	48314857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttgatcatttccacctgtCtccccaaggtgaagattcac	10	12	6	13	0	3	3	2	2	1	1	5	3	4	3	4	1	0	0	4	1	2	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:48314857C>G	ENST00000435803.1	+	17	5618	c.5594C>G	c.(5593-5595)tCt>tGt	p.S1865C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1865					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						TTCCACCTGTCTCCCCAAGGT	0.423													28	24					0	0	0	0	G	48314857	C	G	48314857	3	3	100	1	0	0	0	0	1	0	0	0	31	913	32	2	5489	2	ABCA13	7	48314857	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	3581418	48314857	110823806	119	19237											
MAGI2	9863	broad.mit.edu	37	chr7	79082487	79082487	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctctcataggccaccttGccgggcttcacctcccccag	5	8	8	20	2	2	0	2	0	1	0	4	0	3	0	7	2	1	2	7	2	1	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:79082487G>T	ENST00000354212.4	-	1	403	c.150C>A	c.(148-150)ggC>ggA	p.G50G	MAGI2_ENST00000419488.1_Silent_p.G50G|MAGI2-AS3_ENST00000446159.1_RNA|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000522391.1_Silent_p.G50G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	50	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGCCACCTTGCCGGGCTTCA	0.642													31	77					4.74835e-14	6.14872e-14	1	0	T	79082487	G	T	79082487	2	4	100	1	0	0	0	0	0	0	0	1	9260	1306	46	4		4	MAGI2	7	79082487	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	30767630	79082487	80056176	120	19238											
CACNA2D1	781	broad.mit.edu	37	chr7	81693654	81693654	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcatgtctttaggagatgCagctccttggatgtacctga	10	12	11	8	0	1	2	0	1	1	1	2	4	2	3	2	2	4	4	2	2	3	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:81693654C>A	ENST00000356860.3	-	9	1083	c.745G>T	c.(745-747)Gca>Tca	p.A249S	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A249S|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A249S	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	249						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTAGGAGATGCAGCTCCTTGG	0.313													9	28					1.76689e-08	2.03913e-08	1	0	A	81693654	C	A	81693654	3	1	100	1	0	0	0	0	1	0	0	0	2573	710	25	4	2654	4	CACNA2D1	7	81693654	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	2611167	81693654	77445009	121	19239											
PCLO	27445	broad.mit.edu	37	chr7	82585441	82585441	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactttttcgagtcagtcGtctgtgtttccctgctgtta	4	18	9	10	2	2	0	1	0	1	0	5	1	3	0	1	0	2	4	1	0	2	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:82585441G>A	ENST00000423517.2	-	5	5165	c.4828C>T	c.(4828-4830)Cga>Tga	p.R1610*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.R1610*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1541					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGAGTCAGTCGTCTGTGTTTC	0.428													34	224					0	0	0	0	A	82585441	G	A	82585441	4	1	100	1	0	0	0	0	0	1	0	0	11654	1153	40	1	10701	1	PCLO	7	82585441	Nonsense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	891787	82585441	76553222	122	19240											
PEX1	5189	broad.mit.edu	37	chr7	92147348	92147348	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccataagaggcagctggtaTtagtgcaactgtgtagaaaa	14	10	11	6	0	0	2	0	0	0	2	1	2	1	2	1	2	3	5	1	2	7	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:92147348T>C	ENST00000248633.4	-	5	576	c.481A>G	c.(481-483)Ata>Gta	p.I161V	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.I161V	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	161					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCAGCTGGTATTAGTGCAACT	0.393													14	33					0	0	0	0	C	92147348	T	C	92147348	3	2	100	1	0	0	0	0	1	0	0	0	11807	1493	52	5	3450	5	PEX1	7	92147348	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	9561907	92147348	66991315	123	19241											
PEG10	23089	broad.mit.edu	37	chr7	94293079	94293079	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcagcagctgctgccccaCcccctccaatagaggaagag	10	5	10	16	0	0	2	0	0	0	2	1	3	1	3	5	1	5	4	5	1	3	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:94293079C>G	ENST00000482108.1	+	2	690	c.211C>G	c.(211-213)Ccc>Gcc	p.P71A	PEG10_ENST00000488574.1_Missense_Mutation_p.P71A	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	71					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCTGCCCCACCCCCTCCAAT	0.582													7	13					0	0	0	0	G	94293079	C	G	94293079	3	3	100	1	0	0	0	0	1	0	0	0	11790	507	18	4	445	4	PEG10	7	94293079	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	2145731	94293079	64845584	124	19242											
SHFM1	7979	broad.mit.edu	37	chr7	96303092	96303092	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacagcagaggaaagcacTgcacattcttcccttttggt	11	12	8	10	0	1	1	0	0	1	1	2	2	2	2	1	2	4	3	1	2	2	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:96303092T>A	ENST00000413065.1	-	3	337	c.250A>T	c.(250-252)Agt>Tgt	p.S84C	SHFM1_ENST00000444799.1_Intron|SHFM1_ENST00000417009.1_Intron			P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	0					proteolysis	proteasome complex	peptidase activity|protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					AGGAAAGCACTGCACATTCTT	0.453								Homologous recombination					12	31					0	0	0	0	A	96303092	T	A	96303092	3	1	100	1	0	0	0	0	1	0	0	0	14366	1595	55	5		5	SHFM1	7	96303092	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	2010013	96303092	62835571	125	19243											
ZAN	7455	broad.mit.edu	37	chr7	100345803	100345803	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaccccagagccagctgTggcagttgatgcaaccagca	13	5	11	12	0	0	3	0	1	0	2	0	3	0	3	4	1	5	5	4	1	2	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:100345803T>A	ENST00000542585.1	+	0	1215				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAGCCAGCTGTGGCAGTTGAT	0.622													14	37					0	0	0	0	A	100345803	T	A	100345803	1	1	100	0	1	0	0	0	0	0	0	0	17609	1696	59	5		5	ZAN	7	100345803	RNA	SNP	T	TCGA-CN-6021-01A-11D-1683-08	4042711	100345803	58792860	126	19244											
LAMB1	3912	broad.mit.edu	37	chr7	107638890	107638890	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctgtcaggattcagggtCtcatgataaggatcttggga	9	12	14	6	0	4	1	3	1	2	0	5	4	4	4	0	5	0	1	0	5	1	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:107638890C>T	ENST00000393561.1	-	2	517	c.333G>A	c.(331-333)gaG>gaA	p.E111E	LAMB1_ENST00000222399.6_Silent_p.E87E|LAMB1_ENST00000393560.1_Silent_p.E87E			P07942	LAMB1_HUMAN	laminin, beta 1	87	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATTCAGGGTCTCATGATAAG	0.388													33	77					0	0	0	0	T	107638890	C	T	107638890	2	4	100	1	0	0	0	0	0	0	0	1	8663	912	32	2		2	LAMB1	7	107638890	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	7293087	107638890	51499773	127	19245											
ASZ1	136991	broad.mit.edu	37	chr7	117024803	117024803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatgtttgtttctttttgCaatctcacttggcatctttc	6	21	6	8	0	3	1	1	1	3	0	5	1	3	1	0	1	1	4	0	1	1	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:117024803C>A	ENST00000284629.2	-	6	726	c.664G>T	c.(664-666)Gca>Tca	p.A222S		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	222					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TTTCTTTTTGCAATCTCACTT	0.333													28	70					2.08457e-15	2.73644e-15	1	0	A	117024803	C	A	117024803	3	1	100	1	0	0	0	0	1	0	0	0	1073	710	25	4	795	4	ASZ1	7	117024803	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	9385913	117024803	42113860	128	19246											
UBN2	254048	broad.mit.edu	37	chr7	138946205	138946205	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggaatgacgtcccggaCttaaatctgagcagcggtga	10	8	14	9	3	1	3	0	3	1	0	2	5	2	5	1	4	2	1	1	4	3	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:138946205C>T	ENST00000288561.8	+	6	1113	c.864C>T	c.(862-864)gaC>gaT	p.D288D	UBN2_ENST00000473989.2_Silent_p.D371D	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	371	Lys-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ACGTCCCGGACTTAAATCTGA	0.483													25	67					0	0	0	0	T	138946205	C	T	138946205	2	4	100	1	0	0	0	0	0	0	0	1	16989	564	20	4		4	UBN2	7	138946205	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	21921402	138946205	20192458	129	19247											
UBN2	254048	broad.mit.edu	37	chr7	138946371	138946371	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctatctgagtcggggggtGaaaatggaaccaccacccag	11	6	12	12	1	1	2	0	2	1	0	2	3	1	3	4	4	1	0	4	4	4	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:138946371G>C	ENST00000288561.8	+	6	1279	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	UBN2_ENST00000473989.2_Missense_Mutation_p.E427Q	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	427	Lys-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GTCGGGGGGTGAAAATGGAAC	0.483													12	70					0	0	0	0	C	138946371	G	C	138946371	3	2	100	1	0	0	0	0	1	0	0	0	16989	1291	45	2	1301	2	UBN2	7	138946371	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	166	138946371	20192292	130	19248											
FAM115C	285966	broad.mit.edu	37	chr7	143417115	143417115	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggagcatggcctgcaatgCagcctggagccccatctgaa	9	7	12	13	1	1	1	0	1	1	0	2	3	1	3	4	3	5	3	4	3	2	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:143417115C>T	ENST00000441159.2	+	3	1029	c.963C>T	c.(961-963)tgC>tgT	p.C321C	FAM115C_ENST00000411935.1_Silent_p.C157C|FAM115C_ENST00000425618.2_Silent_p.C40C|FAM115C_ENST00000409703.3_Silent_p.C157C|FAM115C_ENST00000444908.2_Silent_p.C321C|FAM115C_ENST00000411497.2_Silent_p.C40C|FAM115C_ENST00000357344.4_Silent_p.C321C			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	321										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						GCCTGCAATGCAGCCTGGAGC	0.562													15	69					0	0	0	0	T	143417115	C	T	143417115	2	4	100	1	0	0	0	0	0	0	0	1	5447	718	25	4		4	FAM115C	7	143417115	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	4470744	143417115	15721548	131	19249											
KRBA1	84626	broad.mit.edu	37	chr7	149426299	149426299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactgagggctgaggcctgcGagtcagccgtctcgggcagg	6	6	18	11	3	2	2	1	2	1	0	3	4	2	2	2	4	2	2	2	4	0	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:149426299G>A	ENST00000255992.10	+	13	2047	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Intron|KRBA1_ENST00000319551.8_Intron	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	550										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAGGCCTGCGAGTCAGCCGT	0.632													4	25					0	0	0	0	A	149426299	G	A	149426299	3	1	100	1	0	0	0	0	1	0	0	0	8491	1059	37	1	1694	1	KRBA1	7	149426299	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	6009184	149426299	9712364	132	19250											
MTMR7	9108	broad.mit.edu	37	chr8	17159737	17159737	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaggtaatctgtaactgActgtcggggctgcatcccct	8	12	10	11	1	1	1	0	1	1	0	3	1	2	1	2	3	2	4	2	3	3	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:17159737A>T	ENST00000180173.5	-	13	1580	c.1546T>A	c.(1546-1548)Tca>Aca	p.S516T	MTMR7_ENST00000398099.3_Missense_Mutation_p.S107T|MTMR7_ENST00000521857.1_Missense_Mutation_p.S516T	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	516							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCTGTAACTGACTGTCGGGGC	0.453													43	97					0	0	0	0	T	17159737	A	T	17159737	3	4	100	1	0	0	0	0	1	0	0	0	10018	275	10	5	444	5	MTMR7	8	17159737	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08		17159737	129204285	133	19251											
HR	55806	broad.mit.edu	37	chr8	21973246	21973246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatgtccccacggccacCttcactgcttggaacacagc	9	9	8	15	1	1	0	1	0	0	0	2	1	2	1	4	2	3	2	4	2	2	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:21973246C>T	ENST00000381418.4	-	19	5017	c.3537G>A	c.(3535-3537)aaG>aaA	p.K1179K	HR_ENST00000312841.8_Silent_p.K1124K	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1179							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCACGGCCACCTTCACTGCTT	0.562													7	30					0	0	0	0	T	21973246	C	T	21973246	2	4	100	1	0	0	0	0	0	0	0	1	7397	680	24	4		4	HR	8	21973246	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	4813509	21973246	124390776	134	19252											
ADAM28	10863	broad.mit.edu	37	chr8	24168892	24168892	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgattgttattatcaaGgacatattcttaatgaaaag	16	14	8	3	0	2	2	1	2	1	0	2	4	2	4	0	2	0	1	0	2	7	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:24168892G>T	ENST00000265769.4	+	5	435	c.325G>T	c.(325-327)Gga>Tga	p.G109*	ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Nonsense_Mutation_p.G109*|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	109					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTATTATCAAGGACATATTCT	0.388													9	30					0.000274275	0.000286265	1	0	T	24168892	G	T	24168892	4	4	100	1	0	0	0	0	0	1	0	0	246	1001	35	4	343	4	ADAM28	8	24168892	Nonsense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	2195646	24168892	122195130	135	19253											
PNMA2	10687	broad.mit.edu	37	chr8	26365761	26365761	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggggctgggacagcacTccctgagaatactcgcagtt	8	9	12	12	1	1	1	0	1	1	1	3	3	2	2	1	3	2	4	1	3	2	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:26365761T>G	ENST00000522362.2	-	3	1405	c.511A>C	c.(511-513)Agt>Cgt	p.S171R		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	171					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gggacagcactccctgagaat	0.537													15	75					0	0	0	0	G	26365761	T	G	26365761	3	3	100	1	0	0	0	0	1	0	0	0	12226	1551	54	5	587	5	PNMA2	8	26365761	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	2196869	26365761	119998261	136	19254											
ADRA1A	148	broad.mit.edu	37	chr8	26721956	26721956	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcccggctcctcgttgatCtggcagatggtctcgtcctc	4	12	11	14	3	2	2	0	1	2	1	7	2	4	2	3	3	1	3	3	3	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:26721956C>T	ENST00000380573.3	-	2	1554	c.531G>A	c.(529-531)caG>caA	p.Q177Q	ADRA1A_ENST00000519229.1_Silent_p.Q177Q|ADRA1A_ENST00000276393.4_Silent_p.Q177Q|ADRA1A_ENST00000354550.4_Silent_p.Q177Q|ADRA1A_ENST00000358857.5_Silent_p.Q177Q|ADRA1A_ENST00000380572.3_Silent_p.Q177Q|ADRA1A_ENST00000380582.3_Silent_p.Q177Q|ADRA1A_ENST00000380581.2_Silent_p.Q177Q|ADRA1A_ENST00000380586.1_Silent_p.Q177Q|ADRA1A_ENST00000380587.1_Silent_p.Q177Q			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	177					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CCTCGTTGATCTGGCAGATGG	0.627													8	27					0	0	0	0	T	26721956	C	T	26721956	2	4	100	1	0	0	0	0	0	0	0	1	334	912	32	2		2	ADRA1A	8	26721956	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	356195	26721956	119642066	137	19255											
UNC5D	137970	broad.mit.edu	37	chr8	35579781	35579781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcttgggtgctgccgtcGtggccgttgcagtcctggtc	1	11	17	12	4	0	0	0	0	0	0	3	0	1	0	3	4	3	4	3	4	0	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:35579781G>T	ENST00000287272.2	+	8	1023	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L	UNC5D_ENST00000404895.2_Missense_Mutation_p.V391L|UNC5D_ENST00000416672.1_Missense_Mutation_p.V396L|UNC5D_ENST00000453357.2_Missense_Mutation_p.V386L|UNC5D_ENST00000420357.1_Missense_Mutation_p.V324L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	391	TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGCTGCCGTCGTGGCCGTTGC	0.522													57	136					3.89483e-19	5.3327e-19	1	0	T	35579781	G	T	35579781	3	4	100	1	0	0	0	0	1	0	0	0	17091	1145	40	3	1205	3	UNC5D	8	35579781	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	8857825	35579781	110784241	138	19256											
SNTG1	54212	broad.mit.edu	37	chr8	51571220	51571220	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattatgtgcaagatcctCaaggtatgatcaatatgtag	14	12	10	5	0	2	3	2	1	0	2	3	4	3	3	1	1	1	3	1	1	7	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:51571220C>A	ENST00000522124.1	+	15	1696	c.1035C>A	c.(1033-1035)ctC>ctA	p.L345L	SNTG1_ENST00000518864.1_Silent_p.L345L|SNTG1_ENST00000517473.1_Silent_p.L345L|SNTG1_ENST00000276467.5_Silent_p.L345L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	345	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.L345L(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCAAGATCCTCAAGGTATGAT	0.373													7	40					1.06961e-07	1.22333e-07	1	0	A	51571220	C	A	51571220	2	1	100	1	0	0	0	0	0	0	0	1	14962	813	29	2		2	SNTG1	8	51571220	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	15991439	51571220	94792802	139	19257											
KCNB2	9312	broad.mit.edu	37	chr8	73848928	73848928	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgagcgggccaaaaggaaCggaagcatcgtttctatgaa	13	8	12	8	3	1	2	0	2	1	0	2	4	1	4	1	3	3	2	1	3	6	3	rs141965461		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:73848928C>T	ENST00000523207.1	+	3	1926	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	446					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCAAAAGGAACGGAAGCATCG	0.453													36	82					0	0	0	0	T	73848928	C	T	73848928	2	4	100	1	0	0	0	0	0	0	0	1	8066	535	19	1		1	KCNB2	8	73848928	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	22277708	73848928	72515094	140	19258											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886082	88886082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctatacggcaatagttggCgaatctgaggaaacctagct	13	9	11	8	2	1	1	0	1	1	0	1	3	1	2	1	3	4	4	1	3	7	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:88886082C>A	ENST00000319675.3	-	1	214	c.118G>T	c.(118-120)Gcc>Tcc	p.A40S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	40										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAATAGTTGGCGAATCTGAGG	0.522													29	45					2.14196e-07	2.42797e-07	1	0	A	88886082	C	A	88886082	3	1	100	1	0	0	0	0	1	0	0	0	4305	768	27	3	1073	3	DCAF4L2	8	88886082	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	15037154	88886082	57477940	141	19259											
SLC26A7	115111	broad.mit.edu	37	chr8	92406489	92406489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacttggatcttccaacaaTgccaccgctctgaggattgg	10	11	9	11	1	2	1	0	1	2	0	3	3	3	3	3	3	3	1	3	3	3	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:92406489T>C	ENST00000309536.2	+	19	2199	c.1979T>C	c.(1978-1980)aTg>aCg	p.M660T	SLC26A7_ENST00000523719.1_Intron|SLC26A7_ENST00000276609.3_Intron|SLC26A7_ENST00000520249.1_Intron	NM_134266.1	NP_599028.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	0						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTTCCAACAATGCCACCGCTC	0.418													21	34					0	0	0	0	C	92406489	T	C	92406489	3	2	100	1	0	0	0	0	1	0	0	0	14610	1464	51	5	2049	5	SLC26A7	8	92406489	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	3520407	92406489	53957533	142	19260											
OSR2	116039	broad.mit.edu	37	chr8	99961349	99961349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acatgaaccactggacgctgGggtatcccaatgtgcacgag	11	7	12	11	2	0	1	0	1	0	0	1	3	1	2	2	3	2	3	2	3	3	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:99961349G>T	ENST00000297565.4	+	2	665	c.169G>T	c.(169-171)Ggg>Tgg	p.G57W	OSR2_ENST00000435298.2_Missense_Mutation_p.G57W|OSR2_ENST00000457907.2_Missense_Mutation_p.G178W|OSR2_ENST00000523368.1_Missense_Mutation_p.G57W|OSR2_ENST00000522510.1_Missense_Mutation_p.G57W	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	57					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CTGGACGCTGGGGTATCCCAA	0.667													20	58					1.01871e-10	1.25128e-10	1	0	T	99961349	G	T	99961349	3	4	100	1	0	0	0	0	1	0	0	0	11365	1232	43	4	171	4	OSR2	8	99961349	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	7554860	99961349	46402673	143	19261											
KCNV1	27012	broad.mit.edu	37	chr8	110980809	110980809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaacactgggtgattgtCatcccaagggagcgtaatcc	10	10	11	10	2	1	1	1	1	0	0	4	2	3	2	2	2	2	2	2	2	3	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:110980809C>A	ENST00000524391.1	-	4	2043	c.1011G>T	c.(1009-1011)atG>atT	p.M337I	KCNV1_ENST00000297404.1_Missense_Mutation_p.M337I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	337						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGGTGATTGTCATCCCAAGGG	0.483													16	37					3.32936e-07	3.74063e-07	1	0	A	110980809	C	A	110980809	3	1	100	1	0	0	0	0	1	0	0	0	8147	826	29	2	495	2	KCNV1	8	110980809	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	11019460	110980809	35383213	144	19262											
CSMD3	114788	broad.mit.edu	37	chr8	113318352	113318352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaaaaataggtaactcgcGttcctaccaaatagtctgtt	14	12	6	9	2	1	0	0	0	1	0	3	0	2	0	2	1	3	3	2	1	8	7			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:113318352G>T	ENST00000297405.5	-	51	8199	c.7955C>A	c.(7954-7956)aCg>aAg	p.T2652K	CSMD3_ENST00000343508.3_Missense_Mutation_p.T2612K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2548K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T2582K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2652	Sushi 15.					integral to membrane|plasma membrane		p.T2652R(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTAACTCGCGTTCCTACCAA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	70					4.35082e-09	5.12967e-09	1	0	T	113318352	G	T	113318352	3	4	100	1	0	0	0	0	1	0	0	0	3978	1145	40	3	3252	3	CSMD3	8	113318352	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	2337543	113318352	33045670	145	19263											
CDKN2A	1029	broad.mit.edu	37	chr9	21971137	21971137	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggtgagagtggcggggTcggcgcagttgggctccgcg	3	7	22	9	6	0	1	0	1	0	1	3	2	1	1	1	6	0	3	1	6	0	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:21971137T>A	ENST00000304494.5	-	2	491	c.221A>T	c.(220-222)gAc>gTc	p.D74V	CDKN2A_ENST00000494262.1_Missense_Mutation_p.D23V|CDKN2A_ENST00000579755.1_Silent_p.R88R|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D23V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D23V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D23V|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D74V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D23V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D74V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Silent_p.R129R|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D74V|CDKN2A_ENST00000530628.2_Silent_p.R88R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	74			D -> N (in a bladder tumor).|D -> V (in a biliary tract tumor).|D -> Y (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D74V(2)|p.E61_L94del(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.C72fs*71(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGTGGCGGGGTCGGCGCAGTT	0.711		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	5					0	0	0	0	A	21971137	T	A	21971137	3	1	100	1	0	0	0	0	1	0	0	0	3190	1667	58	5	257	5	CDKN2A	9	21971137	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08		21971137	119242294	146	19264											
NPR2	4882	broad.mit.edu	37	chr9	35794092	35794092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcccaggccctcagagagGcctttcaggtatcatttgag	9	9	12	11	0	3	2	3	1	0	1	3	3	3	2	3	4	0	1	3	4	1	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:35794092G>T	ENST00000342694.2	+	2	1120	c.865G>T	c.(865-867)Gcc>Tcc	p.A289S		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	289					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	cctcagagaggcctttcaggt	0.577													12	11					2.80697e-09	3.33001e-09	1	0	T	35794092	G	T	35794092	3	4	100	1	0	0	0	0	1	0	0	0	10666	1203	42	4	871	4	NPR2	9	35794092	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	13822955	35794092	105419339	147	19265											
TRPM6	140803	broad.mit.edu	37	chr9	77411725	77411725	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacataaattggaagtcctGggactggggaacatgtgaca	13	8	12	8	0	0	1	0	1	0	0	1	4	1	4	2	4	1	0	2	4	4	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:77411725G>A	ENST00000451710.3	-	18	2560	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Q775*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Q770*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Q775*|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Q770*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	775					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						TGGAAGTCCTGGGACTGGGGA	0.368													22	122					0	0	0	0	A	77411725	G	A	77411725	4	1	100	1	0	0	0	0	0	1	0	0	16685	1357	47	4	3833	4	TRPM6	9	77411725	Nonsense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	41617633	77411725	63801706	148	19266											
FAM120AOS	158293	broad.mit.edu	37	chr9	96209968	96209968	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttgttattgacagaacaGcttctggaaatctgaaaaga	15	12	8	6	0	2	4	0	2	2	2	2	5	2	5	0	1	2	2	0	1	5	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:96209968G>A	ENST00000375412.5	-	3	1578	c.696C>T	c.(694-696)agC>agT	p.S232S	FAM120AOS_ENST00000423591.1_Silent_p.S50S|FAM120AOS_ENST00000479094.1_5'UTR	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	232										kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						TGACAGAACAGCTTCTGGAAA	0.333													14	99					0	0	0	0	A	96209968	G	A	96209968	2	1	100	1	0	0	0	0	0	0	0	1	5457	962	34	4		4	FAM120AOS	9	96209968	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	18798243	96209968	45003463	149	19267											
TLR4	7099	broad.mit.edu	37	chr9	120470933	120470933	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaagaacctggacctgagCtttaatcccctgaggcattt	11	10	8	12	0	0	3	0	2	0	1	1	4	1	4	5	2	2	2	5	2	3	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:120470933C>T	ENST00000355622.6	+	2	287	c.186C>T	c.(184-186)agC>agT	p.S62S	TLR4_ENST00000394487.4_Silent_p.S22S|TLR4_ENST00000472304.1_Intron	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	62					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGGACCTGAGCTTTAATCCCC	0.443													16	121					0	0	0	0	T	120470933	C	T	120470933	2	4	100	1	0	0	0	0	0	0	0	1	16047	796	28	4		4	TLR4	9	120470933	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	24260965	120470933	20742498	150	19268											
TLR4	7099	broad.mit.edu	37	chr9	120474751	120474751	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaggaaaccccatccaGagtttagccctgggagcctt	10	9	10	12	0	0	2	0	1	0	1	1	4	1	4	5	2	3	1	5	2	2	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:120474751G>T	ENST00000355622.6	+	3	446	c.345G>T	c.(343-345)caG>caT	p.Q115H	TLR4_ENST00000394487.4_Missense_Mutation_p.Q75H|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	115					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ACCCCATCCAGAGTTTAGCCC	0.453													40	33					1.96642e-18	2.65432e-18	1	0	T	120474751	G	T	120474751	3	4	100	1	0	0	0	0	1	0	0	0	16047	933	33	2	355	2	TLR4	9	120474751	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	3818	120474751	20738680	151	19269											
FNBP1	23048	broad.mit.edu	37	chr9	132658199	132658199	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcatttctccgaatgcgggtCcagccatcgcctttgtcttc	5	14	8	14	3	3	0	1	0	2	0	7	1	4	0	4	1	2	0	4	1	1	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:132658199C>T	ENST00000420781.1	-	16	1955	c.1737G>A	c.(1735-1737)tgG>tgA	p.W579*	FNBP1_ENST00000446176.2_Nonsense_Mutation_p.W588*|FNBP1_ENST00000355681.3_Nonsense_Mutation_p.W559*|FNBP1_ENST00000443566.2_Nonsense_Mutation_p.W216*			Q96RU3	FNBP1_HUMAN	formin binding protein 1	588	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GAATGCGGGTCCAGCCATCGC	0.413			T	MLL	AML								27	32					0	0	0	0	T	132658199	C	T	132658199	4	4	100	1	0	0	0	0	0	1	0	0	6010	856	30	2	97	2	FNBP1	9	132658199	Nonsense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	12183448	132658199	8555232	152	19270											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-																															gccatggggacactcgcagtAgaaggaggccacacggtcat																										TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)tac>t	p.FY357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			21	20	---	---	---	---					-	139413072	AGA	-	139413070	7	5	100	1	0	1	0	1	0	0	0	0	10617	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-CN-6021-01A-11D-1683-08	6754871	139413070	1800361	153	19271											
TAF3	83860	broad.mit.edu	37	chr10	8006137	8006137	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcagctcaataaatactCaaaagatcccaccaatgctt	16	9	3	13	0	3	1	3	0	0	1	4	1	4	1	2	0	3	2	2	0	7	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:8006137C>T	ENST00000344293.5	+	3	870	c.664C>T	c.(664-666)Caa>Taa	p.Q222*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	222					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AATAAATACTCAAAAGATCCC	0.507													27	46					0	0	0	0	T	8006137	C	T	8006137	4	4	100	1	0	0	0	0	0	1	0	0	15616	827	29	2	674	2	TAF3	10	8006137	Nonsense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08		8006137	127528610	154	19272											
MRC1	4360	broad.mit.edu	37	chr10	17891588	17891588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttttgtttctagaaagtGatgtgcctactcactgtcct	7	17	7	10	0	2	2	1	1	1	1	3	2	3	2	3	0	2	1	3	0	3	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:17891588G>T	ENST00000331429.2	+	7	1172	c.1069G>T	c.(1069-1071)Gat>Tat	p.D357Y	MRC1L1_ENST00000457317.1_Missense_Mutation_p.D357Y																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTAGAAAGTGATGTGCCTAC	0.363													18	54					5.3912e-06	5.91793e-06	1	0	T	17891588	G	T	17891588	3	4	100	1	0	0	0	0	1	0	0	0	9826	1290	45	2	1095	2	MRC1	10	17891588	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	9885451	17891588	117643159	155	19273											
ARHGAP12	94134	broad.mit.edu	37	chr10	32197132	32197132	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggagctgctgctaagttCatcaccagattcagaatctt	11	12	9	9	0	4	2	3	0	1	2	4	3	4	3	1	1	3	4	1	1	2	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:32197132C>A	ENST00000375250.5	-	3	893	c.652G>T	c.(652-654)Gaa>Taa	p.E218*	ARHGAP12_ENST00000375245.4_Nonsense_Mutation_p.E218*|ARHGAP12_ENST00000396144.4_Nonsense_Mutation_p.E218*|ARHGAP12_ENST00000311380.4_Nonsense_Mutation_p.E218*|ARHGAP12_ENST00000344936.2_Nonsense_Mutation_p.E218*	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	218					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CTGCTAAGTTCATCACCAGAT	0.378													16	56					6.72482e-11	8.28672e-11	1	0	A	32197132	C	A	32197132	4	1	100	1	0	0	0	0	0	1	0	0	867	835	29	2	1960	2	ARHGAP12	10	32197132	Nonsense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	14305544	32197132	103337615	156	19274											
ZNF33A	7581	broad.mit.edu	37	chr10	38345088	38345088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atctttctgtgtaaaatcagGacttattttccatgagagaa	13	15	7	6	0	3	2	1	1	2	1	4	4	4	3	1	1	0	1	1	1	4	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:38345088G>A	ENST00000374618.3	+	5	2214	c.2036G>A	c.(2035-2037)gGa>gAa	p.G679E	ZNF33A_ENST00000432900.2_Missense_Mutation_p.G685E|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.G678E|ZNF33A_ENST00000458705.2_Missense_Mutation_p.G678E	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	678						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GTAAAATCAGGACTTATTTTC	0.388													20	92					0	0	0	0	A	38345088	G	A	38345088	3	1	100	1	0	0	0	0	1	0	0	0	17949	1174	41	2	2050	2	ZNF33A	10	38345088	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	6147956	38345088	97189659	157	19275											
RBP3	5949	broad.mit.edu	37	chr10	48387902	48387902	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggtgtgggtctccggaGagcatctgcaggtcagcccc	6	9	14	12	1	4	1	2	0	2	1	5	2	4	1	3	4	3	2	3	4	0	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:48387902G>T	ENST00000224600.4	-	1	3089	c.2976C>A	c.(2974-2976)ctC>ctA	p.L992L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	992	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGTCTCCGGAGAGCATCTGCA	0.602													31	91					6.04164e-23	8.54781e-23	1	0	T	48387902	G	T	48387902	2	4	100	1	0	0	0	0	0	0	0	1	13239	929	33	2		2	RBP3	10	48387902	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	10042814	48387902	87146845	158	19276											
SLC18A3	6572	broad.mit.edu	37	chr10	50820091	50820091	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcggtggcctacgcgctcggGcccatagtggcaggccacat	6	7	14	14	4	0	0	0	0	0	0	2	0	0	0	3	5	1	2	3	5	2	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:50820091G>A	ENST00000374115.3	+	1	1745	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	435					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ACGCGCTCGGGCCCATAGTGG	0.627													10	18					0	0	0	0	A	50820091	G	A	50820091	2	1	100	1	0	0	0	0	0	0	0	1	14515	1190	42	4		4	SLC18A3	10	50820091	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	2432189	50820091	84714656	159	19277											
CHAT	1103	broad.mit.edu	37	chr10	50828553	50828553	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcaggtgtctgagtacTggctgaatgacatgtatctc	8	11	12	10	1	2	3	0	3	2	0	3	3	2	3	1	3	1	4	1	3	3	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:50828553T>G	ENST00000395562.2	+	5	815	c.346T>G	c.(346-348)Tgg>Ggg	p.W116G	CHAT_ENST00000395559.2_Missense_Mutation_p.W80G|CHAT_ENST00000339797.1_Missense_Mutation_p.W80G|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000337653.2_Missense_Mutation_p.W198G|CHAT_ENST00000455728.2_Missense_Mutation_p.W80G|CHAT_ENST00000351556.3_Missense_Mutation_p.W80G	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	198					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GTCTGAGTACTGGCTGAATGA	0.597													40	85					0	0	0	0	G	50828553	T	G	50828553	3	3	100	1	0	0	0	0	1	0	0	0	3342	1580	55	5	650	5	CHAT	10	50828553	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	8462	50828553	84706194	160	19278											
P4HA1	5033	broad.mit.edu	37	chr10	74813238	74813238	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgccttcatccagttgccTtagggcttgttccatccaca	6	13	7	15	1	1	0	1	0	0	0	5	0	4	0	5	1	1	3	5	1	1	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:74813238T>A	ENST00000412021.2	-	7	907	c.574A>T	c.(574-576)Agg>Tgg	p.R192W	P4HA1_ENST00000373008.2_Missense_Mutation_p.R192W|P4HA1_ENST00000440381.1_Missense_Mutation_p.R192W|P4HA1_ENST00000263556.3_Missense_Mutation_p.R192W|P4HA1_ENST00000394890.2_Missense_Mutation_p.R192W|P4HA1_ENST00000307116.2_Missense_Mutation_p.R192W	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	192						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCCAGTTGCCTTAGGGCTTGT	0.443													37	90					0	0	0	0	A	74813238	T	A	74813238	3	1	100	1	0	0	0	0	1	0	0	0	11427	1608	56	5	1145	5	P4HA1	10	74813238	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	23984685	74813238	60721509	161	19279											
PLCE1	51196	broad.mit.edu	37	chr10	95791541	95791541	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggccaaaaattgtgataaTaagaatgagcagctgcagtg	15	10	11	5	0	0	3	0	2	0	1	0	3	0	3	1	1	3	3	1	1	5	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:95791541T>C	ENST00000260766.3	+	2	1372	c.738T>C	c.(736-738)aaT>aaC	p.N246N	PLCE1_ENST00000371380.2_Silent_p.N246N	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	246					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATTGTGATAATAAGAATGAGC	0.398													21	25					0	0	0	0	C	95791541	T	C	95791541	2	2	100	1	0	0	0	0	0	0	0	1	12106	1403	49	5		5	PLCE1	10	95791541	Silent	SNP	T	TCGA-CN-6021-01A-11D-1683-08	20978303	95791541	39743206	162	19280											
CYP2C9	1559	broad.mit.edu	37	chr10	96702062	96702062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccgtgttcaagaggaaGcccgctgccttgtggaggag	9	7	16	9	2	1	1	1	0	0	1	1	5	1	5	3	4	2	2	3	4	2	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:96702062G>A	ENST00000260682.6	+	3	457	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	149					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCAAGAGGAAGCCCGCTGCCT	0.502													34	41					0	0	0	0	A	96702062	G	A	96702062	3	1	100	1	0	0	0	0	1	0	0	0	4200	971	34	4	455	4	CYP2C9	10	96702062	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	910521	96702062	38832685	163	19281											
HPSE2	60495	broad.mit.edu	37	chr10	100481543	100481543	+	Frame_Shift_Del	DEL	C	C	-																															aatcctttcccaactggctgCcatttactgcccggccatgc																										TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:100481543delC	ENST00000370552.3	-	5	886	c.827delG	c.(826-828)gcfs	p.G276fs	HPSE2_ENST00000404542.1_Frame_Shift_Del_p.G164fs|HPSE2_ENST00000370549.1_Frame_Shift_Del_p.G218fs|HPSE2_ENST00000370546.1_Frame_Shift_Del_p.G276fs	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	276					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CAACTGGCTGCCATTTACTGC	0.483													24	32	---	---	---	---					-	100481543	C	-	100481543	7	5	100	1	0	1	0	1	0	0	0	0	7395	739	26	0	1021	0	HPSE2	10	100481543	Frame_Shift_Del	DEL	C	TCGA-CN-6021-01A-11D-1683-08	3779481	100481543	35053204	164	19282											
SHOC2	8036	broad.mit.edu	37	chr10	112724466	112724466	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctatacacatattgccatCatcaatcaaagagttgactc	15	12	4	10	0	4	2	3	1	1	1	5	2	4	2	1	0	2	1	1	0	5	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:112724466C>G	ENST00000369452.4	+	2	695	c.350C>G	c.(349-351)tCa>tGa	p.S117*	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Nonsense_Mutation_p.S117*	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	117					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		ATATTGCCATCATCAATCAAA	0.383													27	47					0	0	0	0	G	112724466	C	G	112724466	4	3	100	1	0	0	0	0	0	1	0	0	14375	838	29	2	352	2	SHOC2	10	112724466	Nonsense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	12242923	112724466	22810281	165	19283											
PDZD8	118987	broad.mit.edu	37	chr10	119044794	119044794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtatctactgtcaaccCggcagcttcctcttcataac	9	13	5	14	1	5	0	3	0	2	0	6	0	6	0	2	1	4	3	2	1	4	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:119044794C>A	ENST00000334464.5	-	5	1689	c.1450G>T	c.(1450-1452)Ggg>Tgg	p.G484W	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	484					intracellular signal transduction		metal ion binding	p.G484W(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACTGTCAACCCGGCAGCTTCC	0.438													4	137					0.150653	0.152248	1	0	A	119044794	C	A	119044794	3	1	100	1	0	0	0	0	1	0	0	0	11776	652	23	3	2018	3	PDZD8	10	119044794	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	6320328	119044794	16489953	166	19284											
DMBT1	1755	broad.mit.edu	37	chr10	124336232	124336232	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagatgctggtgttatcTgctcaggtaggcatccagat	9	12	13	7	0	2	3	1	1	1	2	3	3	3	3	1	3	2	5	1	3	3	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:124336232T>A	ENST00000368909.3	+	7	707	c.601T>A	c.(601-603)Tgc>Agc	p.C201S	DMBT1_ENST00000368955.3_Missense_Mutation_p.C201S|DMBT1_ENST00000368956.2_Missense_Mutation_p.C201S|DMBT1_ENST00000359586.6_Missense_Mutation_p.C201S|DMBT1_ENST00000338354.3_Missense_Mutation_p.C201S|DMBT1_ENST00000330163.4_Missense_Mutation_p.C201S|DMBT1_ENST00000344338.3_Missense_Mutation_p.C201S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	201	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGTGTTATCTGCTCAGGTAG	0.552													21	31					0	0	0	0	A	124336232	T	A	124336232	3	1	100	1	0	0	0	0	1	0	0	0	4614	1580	55	5	627	5	DMBT1	10	124336232	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	5291438	124336232	11198515	167	19285											
MGMT	4255	broad.mit.edu	37	chr10	131565234	131565234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggagcgggagctacctcGggctccccgcctgctggccg	5	5	16	15	4	0	0	0	0	0	0	2	2	1	2	5	4	4	3	5	4	2	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:131565234G>A	ENST00000306010.7	+	5	722	c.690G>A	c.(688-690)tcG>tcA	p.S230S		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	230										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GAGCTACCTCGGGCTCCCCGC	0.632								Direct reversal of damage					15	17					0	0	0	0	A	131565234	G	A	131565234	2	1	100	1	0	0	0	0	0	0	0	1	9626	1103	39	1		1	MGMT	10	131565234	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	7229002	131565234	3969513	168	19286											
MUC5B	727897	broad.mit.edu	37	chr11	1271213	1271213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccacagtgctgaccaCgaaggccaccacgacaaggg	12	3	10	16	2	0	1	0	1	0	0	1	3	1	1	5	2	1	1	5	2	2	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:1271213C>T	ENST00000447027.1	+	31	13170	c.13112C>T	c.(13111-13113)aCg>aTg	p.T4371M	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4368M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4368	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCTGACCACGAAGGCCACC	0.642													10	78					0	0	0	0	T	1271213	C	T	1271213	3	4	100	1	0	0	0	0	1	0	0	0	10049	536	19	1	13234	1	MUC5B	11	1271213	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08		1271213	133735303	169	19287											
OR52E4	390081	broad.mit.edu	37	chr11	5906037	5906037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgcgtctgccattctgtgGgcataacatcgtacctcaca	8	12	8	13	2	4	0	1	0	3	0	5	0	4	0	2	1	4	2	2	1	2	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:5906037G>T	ENST00000316987.2	+	1	537	c.515G>T	c.(514-516)gGg>gTg	p.G172V		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATTCTGTGGGCATAACATC	0.453													32	57					8.73648e-17	1.16283e-16	1	0	T	5906037	G	T	5906037	3	4	100	1	0	0	0	0	1	0	0	0	11187	1232	43	4	517	4	OR52E4	11	5906037	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	4634824	5906037	129100479	170	19288											
NRIP3	56675	broad.mit.edu	37	chr11	9009771	9009771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagggacacggggaccgCttcggagcttagacaggttg	9	6	15	11	3	0	1	0	0	0	1	1	4	0	4	2	5	1	3	2	5	2	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:9009771C>A	ENST00000309166.3	-	2	346	c.233G>T	c.(232-234)aGc>aTc	p.S78I	NRIP3_ENST00000531090.1_Missense_Mutation_p.S78I	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	78					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		ACGGGGACCGCTTCGGAGCTT	0.493													42	54					2.26627e-22	3.19453e-22	1	0	A	9009771	C	A	9009771	3	1	100	1	0	0	0	0	1	0	0	0	10725	797	28	4	516	4	NRIP3	11	9009771	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	3103734	9009771	125996745	171	19289											
WEE1	7465	broad.mit.edu	37	chr11	9598747	9598747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggacagcattctcatgtaGttcgatatttctctgcgtgg	7	16	10	8	2	2	0	1	0	2	0	5	2	2	1	0	2	2	3	0	2	2	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:9598747G>T	ENST00000299613.6	+	5	1191	c.436G>T	c.(436-438)Gtt>Ttt	p.V146F	WEE1_ENST00000450114.2_Missense_Mutation_p.V360F	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	360					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TTCTCATGTAGTTCGATATTT	0.358													35	61					5.8336e-16	7.71085e-16	1	0	T	9598747	G	T	9598747	3	4	100	1	0	0	0	0	1	0	0	0	17440	1029	36	4	1096	4	WEE1	11	9598747	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	588976	9598747	125407769	172	19290											
SAAL1	113174	broad.mit.edu	37	chr11	18112026	18112026	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgaatcatacaaacagTgcaataacacctgcctacaa	16	8	6	11	0	2	1	1	1	1	0	2	1	2	1	2	1	6	1	2	1	7	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:18112026T>A	ENST00000524803.1	-	5	477	c.428A>T	c.(427-429)cAc>cTc	p.H143L	SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.H143L|SAAL1_ENST00000300013.4_Missense_Mutation_p.H143L			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	143					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						ATACAAACAGTGCAATAACAC	0.333													3	16					0	0	0	0	A	18112026	T	A	18112026	3	1	100	1	0	0	0	0	1	0	0	0	13886	1696	59	5	1028	5	SAAL1	11	18112026	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	8513279	18112026	116894490	173	19291											
ALKBH3	221120	broad.mit.edu	37	chr11	43941467	43941467	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttatgtgtatttccatttaGcatcgagtgcccaaagaata	12	14	8	7	1	0	1	0	0	0	1	2	2	1	1	2	0	2	3	2	0	6	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:43941467G>A	ENST00000302708.4	+	10	1179		c.e10-1		ALKBH3_ENST00000532410.1_Splice_Site|ALKBH3-AS1_ENST00000499194.1_RNA|ALKBH3-AS1_ENST00000527960.1_RNA|ALKBH3-AS1_ENST00000534287.1_RNA|ALKBH3-AS1_ENST00000528285.1_RNA	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)						DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	TTTCCATTTAGCATCGAGTGC	0.423								Direct reversal of damage					12	75					0	0	0	0	A	43941467	G	A	43941467	5	1	100	1	0	0	0	0	0	0	1	0	528	985	34	4	802	4	ALKBH3	11	43941467	Splice_Site	SNP	G	TCGA-CN-6021-01A-11D-1683-08	25829441	43941467	91065049	174	19292											
ARHGAP1	392	broad.mit.edu	37	chr11	46701258	46701258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggggctcaggaagctcccGgaggaaggtcttgaggatga	10	6	17	8	1	2	2	1	2	1	0	3	6	3	6	1	7	1	2	1	7	2	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:46701258G>A	ENST00000311956.4	-	11	1064	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	323	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGAAGCTCCCGGAGGAAGGTC	0.612													15	80					0	0	0	0	A	46701258	G	A	46701258	3	1	100	1	0	0	0	0	1	0	0	0	863	1115	39	1	364	1	ARHGAP1	11	46701258	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	2759791	46701258	88305258	175	19293											
AGBL2	79841	broad.mit.edu	37	chr11	47712048	47712048	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgacaggaggtagcatTgcaaatcagtgtatgtatat	13	11	10	7	0	1	1	1	1	0	0	1	2	1	2	1	2	2	5	1	2	5	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:47712048T>A	ENST00000525123.1	-	10	1496	c.1211A>T	c.(1210-1212)cAa>cTa	p.Q404L	AGBL2_ENST00000528244.1_Missense_Mutation_p.Q366L|AGBL2_ENST00000357610.3_Missense_Mutation_p.Q404L|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.Q404L	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	404					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GAGGTAGCATTGCAAATCAGT	0.468													14	58					0	0	0	0	A	47712048	T	A	47712048	3	1	100	1	0	0	0	0	1	0	0	0	376	1812	63	5	1537	5	AGBL2	11	47712048	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	1010790	47712048	87294468	176	19294											
OR5D18	219438	broad.mit.edu	37	chr11	55587247	55587247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggaatattgggttgattGtgatcatcaaaatcaacccc	13	12	9	7	0	3	2	3	2	0	0	3	3	3	3	2	2	1	1	2	2	6	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:55587247G>T	ENST00000333976.4	+	1	162	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGGGTTGATTGTGATCATCAA	0.458													27	91					1.5548e-18	2.10615e-18	1	0	T	55587247	G	T	55587247	3	4	100	1	0	0	0	0	1	0	0	0	11228	1377	48	4	144	4	OR5D18	11	55587247	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	7875199	55587247	79419269	177	19295											
OR1S2	219958	broad.mit.edu	37	chr11	57971606	57971606	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatggtggtttggttttcTtgatgcatatttctgctgat	5	20	12	4	0	2	3	0	3	2	0	2	3	2	3	0	3	2	4	0	3	1	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:57971606T>G	ENST00000302592.6	-	1	47	c.48A>C	c.(46-48)caA>caC	p.Q16H		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q16Q(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTTGGTTTTCTTGATGCATAT	0.408													11	66					0	0	0	0	G	57971606	T	G	57971606	3	3	100	1	0	0	0	0	1	0	0	0	11044	1606	56	5	932	5	OR1S2	11	57971606	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	2384359	57971606	77034910	178	19296											
SLC22A11	55867	broad.mit.edu	37	chr11	64329824	64329824	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggccaggcggcgctgggCggcctggcctttgccctgcg	2	6	18	15	4	0	0	0	0	0	0	0	0	0	0	4	6	2	2	4	6	0	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:64329824C>T	ENST00000301891.4	+	4	1112	c.738C>T	c.(736-738)ggC>ggT	p.G246G	SLC22A11_ENST00000377585.3_Silent_p.G246G|SLC22A11_ENST00000377581.3_Silent_p.G246G|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	246					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CGGCGCTGGGCGGCCTGGCCT	0.632													17	99					0	0	0	0	T	64329824	C	T	64329824	2	4	100	1	0	0	0	0	0	0	0	1	14530	755	27	1		1	SLC22A11	11	64329824	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	6358218	64329824	70676692	179	19297											
PRCP	5547	broad.mit.edu	37	chr11	82561547	82561547	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaattcaagtgtctggaatCctaaagaaatataacaaaga	20	9	7	5	0	2	2	1	0	1	2	3	4	3	3	1	1	1	0	1	1	9	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:82561547C>T	ENST00000313010.3	-	4	606	c.411_splice	c.e4-1	p.D138_splice	PRCP_ENST00000393399.2_Splice_Site_p.D159_splice|PRCP_ENST00000535099.1_Splice_Site_p.D33_splice	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	138					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGTCTGGAATCCTAAAGAAAT	0.393													21	53					0	0	0	0	T	82561547	C	T	82561547	5	4	100	1	0	0	0	0	0	0	1	0	12529	869	30	2	1102	2	PRCP	11	82561547	Splice_Site	SNP	C	TCGA-CN-6021-01A-11D-1683-08	18231723	82561547	52444969	180	19298											
KBTBD3	143879	broad.mit.edu	37	chr11	105924356	105924356	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgaaccgttcgacaacAtttccctttgcaaccacctg	10	10	6	15	3	0	0	0	0	0	0	3	2	1	0	4	0	4	2	4	0	3	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:105924356A>T	ENST00000526793.1	-	3	1219	c.1060T>A	c.(1060-1062)Tgt>Agt	p.C354S	KBTBD3_ENST00000531837.1_Missense_Mutation_p.C354S|KBTBD3_ENST00000534815.1_Missense_Mutation_p.C275S	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	350										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GTTCGACAACATTTCCCTTTG	0.428													19	36					0	0	0	0	T	105924356	A	T	105924356	3	4	100	1	0	0	0	0	1	0	0	0	8047	217	8	5	782	5	KBTBD3	11	105924356	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	23362809	105924356	29082160	181	19299											
C11orf87	399947	broad.mit.edu	37	chr11	109294845	109294845	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgtgccagggtccctgTgctcctccgcctccaccgcc	2	8	9	22	3	0	0	0	0	0	0	5	0	5	0	9	1	2	1	9	1	0	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:109294845T>G	ENST00000327419.6	+	2	889	c.486T>G	c.(484-486)tgT>tgG	p.C162W	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	162						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGGGTCCCTGTGCTCCTCCGC	0.672													7	40					0	0	0	0	G	109294845	T	G	109294845	3	3	100	1	0	0	0	0	1	0	0	0	1680	1702	59	5	488	5	C11orf87	11	109294845	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	3370489	109294845	25711671	182	19300											
OR6X1	390260	broad.mit.edu	37	chr11	123625128	123625128	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcctgcaagggttaatatGtaggtgagaaagattgcaat	13	12	12	4	0	0	2	0	1	0	2	0	3	0	2	1	2	3	4	1	2	6	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:123625128G>A	ENST00000327930.2	-	1	125	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGGTTAATATGTAGGTGAGAA	0.423													13	94					0	0	0	0	A	123625128	G	A	123625128	2	1	100	1	0	0	0	0	0	0	0	1	11283	1372	48	4		4	OR6X1	11	123625128	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	14330283	123625128	11381388	183	19301											
GLB1L3	112937	broad.mit.edu	37	chr11	134177072	134177072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcggctggttcgacagatggGgagataagcaccatgttaaa	12	9	13	7	2	0	2	0	0	0	2	2	4	0	2	1	4	1	4	1	4	3	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:134177072G>A	ENST00000431683.2	+	10	931	c.931G>A	c.(931-933)Gga>Aga	p.G311R		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	311					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CGACAGATGGGGAGATAAGCA	0.433													12	13					0	0	0	0	A	134177072	G	A	134177072	3	1	100	1	0	0	0	0	1	0	0	0	6481	1233	43	4	969	4	GLB1L3	11	134177072	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	10551944	134177072	829444	184	19302											
FGF6	2251	broad.mit.edu	37	chr12	4554546	4554546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcaatctctccagctagcCcggcgcgagacctggacagc	8	5	12	16	4	1	1	0	0	1	1	3	3	2	2	3	3	3	2	3	3	2	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:4554546C>A	ENST00000228837.2	-	1	234	c.191G>T	c.(190-192)gGg>gTg	p.G64V		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	64					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TCCAGCTAGCCCGGCGCGAGA	0.647													21	79					1.77063e-15	2.33235e-15	1	0	A	4554546	C	A	4554546	3	1	100	1	0	0	0	0	1	0	0	0	5901	623	22	4	447	4	FGF6	12	4554546	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08		4554546	129297349	185	19303											
KCNA5	3741	broad.mit.edu	37	chr12	5154798	5154798	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcactgttgggggcaagatCgtgggctcgctgtgtgccat	6	11	15	9	2	1	1	1	0	0	1	3	1	1	1	1	3	1	4	1	3	1	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:5154798C>T	ENST00000252321.3	+	1	1714	c.1485C>T	c.(1483-1485)atC>atT	p.I495I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	495						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			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						GGGGCAAGATCGTGGGCTCGC	0.602													25	79					0	0	0	0	T	5154798	C	T	5154798	2	4	100	1	0	0	0	0	0	0	0	1	8059	874	31	1		1	KCNA5	12	5154798	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	600252	5154798	128697097	186	19304											
RERGL	79785	broad.mit.edu	37	chr12	18234236	18234236	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtttatcaggatgtccttGataattctgataaacatcat	14	15	6	6	0	3	2	2	2	1	0	4	3	4	3	1	1	1	1	1	1	5	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:18234236G>A	ENST00000229002.2	-	6	713	c.507C>T	c.(505-507)atC>atT	p.I169I	RERGL_ENST00000538724.1_Silent_p.I168I	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	169	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.I169M(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GGATGTCCTTGATAATTCTGA	0.408													21	61					0	0	0	0	A	18234236	G	A	18234236	2	1	100	1	0	0	0	0	0	0	0	1	13315	1280	45	2		2	RERGL	12	18234236	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	13079438	18234236	115617659	187	19305											
SLCO1B1	10599	broad.mit.edu	37	chr12	21350088	21350088	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaacagctaatttgacCaatcaaggaaaaaatattac	20	9	5	7	0	2	1	2	1	0	0	2	3	2	2	1	1	3	1	1	1	9	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:21350088C>A	ENST00000256958.2	+	8	1032	c.936C>A	c.(934-936)acC>acA	p.T312T		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	312					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTAATTTGACCAATCAAGGAA	0.323													15	39					3.45872e-05	3.72177e-05	1	0	A	21350088	C	A	21350088	2	1	100	1	0	0	0	0	0	0	0	1	14811	581	21	4		4	SLCO1B1	12	21350088	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	3115852	21350088	112501807	188	19306											
BICD1	636	broad.mit.edu	37	chr12	32458869	32458869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtagatggactcaaatttgCcgaggatgggagtgaaccaa	14	8	13	6	1	1	2	1	1	0	1	1	6	1	5	2	3	2	1	2	3	4	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:32458869C>T	ENST00000548411.1	+	4	999	c.818C>T	c.(817-819)gCc>gTc	p.A273V	BICD1_ENST00000281474.5_Missense_Mutation_p.A273V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	273					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CTCAAATTTGCCGAGGATGGG	0.448													4	39					0	0	0	0	T	32458869	C	T	32458869	3	4	100	1	0	0	0	0	1	0	0	0	1433	739	26	4	832	4	BICD1	12	32458869	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	11108781	32458869	101393026	189	19307											
SLC2A13	114134	broad.mit.edu	37	chr12	40223995	40223995	+	Frame_Shift_Del	DEL	C	C	-																															tgttcatcttgtagcagaaaCcgcagtctggatccaacata																										TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:40223995delC	ENST00000280871.4	-	7	1405	c.1355delG	c.(1354-1356)gtfs	p.G452fs		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	452						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GTAGCAGAAACCGCAGTCTGG	0.418										HNSCC(50;0.14)			11	56	---	---	---	---					-	40223995	C	-	40223995	7	5	100	1	0	1	0	1	0	0	0	0	14630	507	18	0	607	0	SLC2A13	12	40223995	Frame_Shift_Del	DEL	C	TCGA-CN-6021-01A-11D-1683-08	7765126	40223995	93627900	190	19308											
KRT1	3848	broad.mit.edu	37	chr12	53072487	53072487	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggtatctacctgctgCagcagctcccattttgtttg	6	14	11	10	0	1	0	0	0	1	0	2	1	2	1	2	2	5	6	2	2	2	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:53072487C>T	ENST00000252244.3	-	2	703	c.645G>A	c.(643-645)ctG>ctA	p.L215L		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	215	Coil 1A.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTACCTGCTGCAGCAGCTCCC	0.463													25	51					0	0	0	0	T	53072487	C	T	53072487	2	4	100	1	0	0	0	0	0	0	0	1	8499	697	25	4		4	KRT1	12	53072487	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	12848492	53072487	80779408	191	19309											
KRT18	3875	broad.mit.edu	37	chr12	53343350	53343350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactggagccattacttcaaGatcatcgaggacctgagggc	11	8	12	10	1	2	2	2	1	0	1	3	6	2	4	2	3	2	0	2	3	2	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:53343350G>A	ENST00000550600.1	+	2	447	c.393G>A	c.(391-393)aaG>aaA	p.K131K	KRT18_ENST00000388837.2_Silent_p.K131K|KRT18_ENST00000388835.3_Silent_p.K131K|KRT8_ENST00000549198.1_5'UTR|KRT8_ENST00000552551.1_5'UTR|KRT8_ENST00000546897.1_Intron			P05783	K1C18_HUMAN	keratin 18	131	Linker 1.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ATTACTTCAAGATCATCGAGG	0.557													9	29					0	0	0	0	A	53343350	G	A	53343350	2	1	100	1	0	0	0	0	0	0	0	1	8507	933	33	2		2	KRT18	12	53343350	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	270863	53343350	80508545	192	19310											
OR6C3	254786	broad.mit.edu	37	chr12	55726162	55726162	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccattttgagaatcccGtctgccagtcaaagaaaaaa	16	8	8	9	1	2	2	1	1	1	2	3	4	3	3	3	1	1	0	3	1	5	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:55726162G>T	ENST00000379667.1	+	1	678	c.678G>T	c.(676-678)ccG>ccT	p.P226P		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGAGAATCCCGTCTGCCAGTC	0.348													41	67					1.22674e-20	1.69788e-20	1	0	T	55726162	G	T	55726162	2	4	100	1	0	0	0	0	0	0	0	1	11263	1132	40	3		3	OR6C3	12	55726162	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	2382812	55726162	78125733	193	19311											
TSPAN8	7103	broad.mit.edu	37	chr12	71523125	71523125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacctcaataactgccaGtccaaatgatattccaataa	15	11	4	11	0	1	1	1	1	0	0	3	1	3	1	4	0	3	1	4	0	7	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:71523125G>T	ENST00000393330.2	-	11	1198	c.646C>A	c.(646-648)Ctg>Atg	p.L216M	TSPAN8_ENST00000546561.1_Missense_Mutation_p.L216M|TSPAN8_ENST00000247829.3_Missense_Mutation_p.L216M|TSPAN8_ENST00000552128.1_Missense_Mutation_p.L133M			P19075	TSN8_HUMAN	tetraspanin 8	216					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			ATAACTGCCAGTCCAAATGAT	0.274													3	21					1.23904e-05	1.34464e-05	1	0	T	71523125	G	T	71523125	3	4	100	1	0	0	0	0	1	0	0	0	16748	1020	36	4	75	4	TSPAN8	12	71523125	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	15796963	71523125	62328770	194	19312											
NAV3	89795	broad.mit.edu	37	chr12	78444759	78444759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaggttcatgtataccaCgcctctccgtcgagctgctg	6	11	10	14	4	2	0	1	0	1	0	5	2	2	0	3	1	3	4	3	1	2	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:78444759C>T	ENST00000397909.2	+	11	2521	c.2348C>T	c.(2347-2349)aCg>aTg	p.T783M	NAV3_ENST00000228327.6_Missense_Mutation_p.T783M|NAV3_ENST00000536525.2_Missense_Mutation_p.T783M|NAV3_ENST00000266692.7_Missense_Mutation_p.T783M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	783						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATGTATACCACGCCTCTCCGT	0.552										HNSCC(70;0.22)			10	30					0	0	0	0	T	78444759	C	T	78444759	3	4	100	1	0	0	0	0	1	0	0	0	10255	536	19	1	2390	1	NAV3	12	78444759	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	6921634	78444759	55407136	195	19313											
TMTC2	160335	broad.mit.edu	37	chr12	83290168	83290168	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataccctttgttcctgccaCgaacctgtttttctatgtcg	6	16	6	13	2	1	0	0	0	1	0	3	1	2	0	4	0	3	2	4	0	3	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:83290168C>G	ENST00000549919.1	+	4	3013	c.1208C>G	c.(1207-1209)aCg>aGg	p.T403R	TMTC2_ENST00000548305.1_Missense_Mutation_p.T409R|TMTC2_ENST00000321196.3_Missense_Mutation_p.T409R			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	409						endoplasmic reticulum|integral to membrane	binding	p.T409R(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GTTCCTGCCACGAACCTGTTT	0.418													10	121					0	0	0	0	G	83290168	C	G	83290168	3	3	100	1	0	0	0	0	1	0	0	0	16355	536	19	3	1236	3	TMTC2	12	83290168	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	4845409	83290168	50561727	196	19314											
BTG1	694	broad.mit.edu	37	chr12	92538007	92538007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggcttcatacagcacaCagatggagccatcctctcca	11	8	9	13	0	2	2	1	1	1	1	4	3	3	3	3	2	3	2	3	2	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:92538007C>A	ENST00000256015.3	-	2	726	c.365G>T	c.(364-366)tGt>tTt	p.C122F		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	122					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				ATACAGCACACAGATGGAGCC	0.512			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	71					4.26978e-12	5.36531e-12	1	0	A	92538007	C	A	92538007	3	1	100	1	0	0	0	0	1	0	0	0	1562	478	17	4	154	4	BTG1	12	92538007	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	9247839	92538007	41313888	197	19315											
ANKS1B	56899	broad.mit.edu	37	chr12	99640640	99640640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcatcctgtcgggagaggtCatctgcaaaaggaaggaagg	12	7	15	7	1	3	1	2	0	1	1	5	4	4	3	1	5	1	1	1	5	4	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:99640640C>T	ENST00000547776.2	-	13	1758	c.1759G>A	c.(1759-1761)Gac>Aac	p.D587N	ANKS1B_ENST00000329257.7_Missense_Mutation_p.D587N|ANKS1B_ENST00000547010.1_Missense_Mutation_p.D167N|ANKS1B_ENST00000550833.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	587						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.D587Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGGGAGAGGTCATCTGCAAAA	0.473													40	113					0	0	0	0	T	99640640	C	T	99640640	3	4	100	1	0	0	0	0	1	0	0	0	688	826	29	2	2331	2	ANKS1B	12	99640640	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	7102633	99640640	34211255	198	19316											
SLC17A8	246213	broad.mit.edu	37	chr12	100797842	100797842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtcagcagtcccacaCatggttatgacaatcgttgt	9	13	8	11	1	2	1	1	1	1	0	4	1	3	1	1	1	1	3	1	1	2	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:100797842C>A	ENST00000323346.5	+	9	1393	c.1080C>A	c.(1078-1080)caC>caA	p.H360Q	SLC17A8_ENST00000392989.3_Missense_Mutation_p.H310Q	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	360					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CAGTCCCACACATGGTTATGA	0.433													17	45					2.39187e-15	3.12909e-15	1	0	A	100797842	C	A	100797842	3	1	100	1	0	0	0	0	1	0	0	0	14511	477	17	4	1114	4	SLC17A8	12	100797842	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	1157202	100797842	33054053	199	19317											
TMEM116	89894	broad.mit.edu	37	chr12	112374541	112374541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagctgcccaggaaaatggcGataccataaaaataaagtgt	18	7	9	7	1	0	0	0	0	0	0	0	2	0	1	2	2	3	1	2	2	9	3	rs143338734		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:112374541G>A	ENST00000354825.3	-	10	922	c.267C>T	c.(265-267)atC>atT	p.I89I	TMEM116_ENST00000552374.2_Silent_p.I181I|TMEM116_ENST00000550831.3_Silent_p.I89I|TMEM116_ENST00000549537.2_Intron|TMEM116_ENST00000437003.2_Silent_p.I89I|TMEM116_ENST00000355445.3_Silent_p.I146I			Q8NCL8	TM116_HUMAN	transmembrane protein 116	89						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						GGAAAATGGCGATACCATAAA	0.473													20	59					0	0	0	0	A	112374541	G	A	112374541	2	1	100	1	0	0	0	0	0	0	0	1	16124	1048	37	1		1	TMEM116	12	112374541	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	11576699	112374541	21477354	200	19318											
PITPNM2	57605	broad.mit.edu	37	chr12	123489976	123489976	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgaactgggccatcttacGggaaagcatgagctgtgcct	10	10	12	9	1	1	2	0	2	1	0	1	3	1	3	2	2	5	2	2	2	3	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:123489976G>C	ENST00000280562.5	-	6	968	c.763C>G	c.(763-765)Cgt>Ggt	p.R255G	PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.R255G|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R255G|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.R255G			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	255					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	p.R255S(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCCATCTTACGGGAAAGCATG	0.637													39	113					0	0	0	0	C	123489976	G	C	123489976	3	2	100	1	0	0	0	0	1	0	0	0	12023	1116	39	3	3366	3	PITPNM2	12	123489976	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	11115435	123489976	10361919	201	19319											
RNF17	56163	broad.mit.edu	37	chr13	25451323	25451323	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactctatgctgtgtccaTggtaagtgtctcaagtagcc	10	12	9	10	0	2	0	1	0	2	0	4	0	3	0	2	1	3	3	2	1	5	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:25451323T>C	ENST00000255324.5	+	34	4824	c.4773_splice	c.e34+1	p.M1591_splice	RNF17_ENST00000381921.1_Splice_Site_p.M1549_splice|RNF17_ENST00000339524.3_Splice_Site_p.M601_splice	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1591					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)		GCTGTGTCCATGGTAAGTGTC	0.413													15	17					0	0	0	0	C	25451323	T	C	25451323	5	2	100	1	0	0	0	0	0	0	1	0	13546	1478	51	5	4906	5	RNF17	13	25451323	Splice_Site	SNP	T	TCGA-CN-6021-01A-11D-1683-08		25451323	89718555	202	19320											
GPR12	2835	broad.mit.edu	37	chr13	27333487	27333487	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagagcatgacgagcaTgacataggtaaacgtgaccg	13	5	11	12	3	0	4	0	3	0	1	0	5	0	4	3	1	3	3	3	1	3	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:27333487T>A	ENST00000405846.3	-	2	699	c.478A>T	c.(478-480)Atg>Ttg	p.M160L	GPR12_ENST00000381436.2_Missense_Mutation_p.M160L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	160						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		ATGACGAGCATGACATAGGTA	0.592													14	17					0	0	0	0	A	27333487	T	A	27333487	3	1	100	1	0	0	0	0	1	0	0	0	6684	1464	51	5	530	5	GPR12	13	27333487	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	1882164	27333487	87836391	203	19321											
ATP7B	540	broad.mit.edu	37	chr13	52549007	52549007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcgaagcccatgtcccCaatttgatggcaaacctgtt	9	10	9	13	1	0	1	0	1	0	0	2	2	1	1	5	2	2	2	5	2	3	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:52549007C>T	ENST00000242839.4	-	2	505	c.349G>A	c.(349-351)Ggg>Agg	p.G117R	ATP7B_ENST00000400370.3_Missense_Mutation_p.G117R|ATP7B_ENST00000542656.1_Missense_Mutation_p.G85R|ATP7B_ENST00000344297.5_Missense_Mutation_p.G117R|ATP7B_ENST00000400366.3_Missense_Mutation_p.G117R|ATP7B_ENST00000418097.2_Missense_Mutation_p.G117R|ATP7B_ENST00000448424.2_Missense_Mutation_p.G117R	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	117	HMA 1.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCCATGTCCCCAATTTGATGG	0.562									Wilson disease				32	50					0	0	0	0	T	52549007	C	T	52549007	3	4	100	1	0	0	0	0	1	0	0	0	1195	594	21	4	4128	4	ATP7B	13	52549007	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	25215520	52549007	62620871	204	19322											
DOCK9	23348	broad.mit.edu	37	chr13	99449735	99449735	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcatatgctagtgggccAgcattgacctagacaaagag	12	7	12	10	2	0	3	0	1	0	2	0	3	0	3	2	1	2	3	2	1	4	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:99449735A>G	ENST00000376460.1	-	54	6047	c.5967T>C	c.(5965-5967)gcT>gcC	p.A1989A	DOCK9_ENST00000339416.2_Silent_p.A1976A	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1990	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTAGTGGGCCAGCATTGACCT	0.423													7	8					0	0	0	0	G	99449735	A	G	99449735	2	3	100	1	0	0	0	0	0	0	0	1	4730	175	7	5		5	DOCK9	13	99449735	Silent	SNP	A	TCGA-CN-6021-01A-11D-1683-08	46900728	99449735	15720143	205	19323											
MYH6	4624	broad.mit.edu	37	chr14	23855572	23855572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctgggcctcggcagcCatgcggttggcgtggctgag	3	10	17	11	3	1	1	0	1	1	0	2	1	1	1	2	5	3	4	2	5	0	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:23855572C>T	ENST00000405093.3	-	33	4981	c.4911G>A	c.(4909-4911)atG>atA	p.M1637I	MYH6_ENST00000356287.3_Missense_Mutation_p.M1637I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1637					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTCGGCAGCCATGCGGTTGG	0.607													8	79					0	0	0	0	T	23855572	C	T	23855572	3	4	100	1	0	0	0	0	1	0	0	0	10108	594	21	4	936	4	MYH6	14	23855572	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08		23855572	83493968	206	19324											
NYNRIN	57523	broad.mit.edu	37	chr14	24884560	24884560	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatgaggagagccagggccCccagtcagggggtgacagcc	9	4	17	11	0	1	4	1	3	0	1	1	5	1	4	4	4	2	0	4	4	0	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:24884560C>G	ENST00000382554.3	+	9	3923	c.3605C>G	c.(3604-3606)cCc>cGc	p.P1202R		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1202					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCCAGGGCCCCCAGTCAGGG	0.622													33	146					0	0	0	0	G	24884560	C	G	24884560	3	3	100	1	0	0	0	0	1	0	0	0	10867	623	22	4	3635	4	NYNRIN	14	24884560	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	1028988	24884560	82464980	207	19325											
FOXA1	3169	broad.mit.edu	37	chr14	38061468	38061468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgatgagcgagatgtacGagtagggcggcttggcgtgc	7	9	19	6	4	0	3	0	2	0	1	0	5	0	3	0	4	3	3	0	4	2	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:38061468G>A	ENST00000250448.2	-	2	582	c.521C>T	c.(520-522)tCg>tTg	p.S174L	FOXA1_ENST00000540786.1_Missense_Mutation_p.S141L|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	174					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGAGATGTACGAGTAGGGCGG	0.652													27	166					0	0	0	0	A	38061468	G	A	38061468	3	1	100	1	0	0	0	0	1	0	0	0	6034	1059	37	1	901	1	FOXA1	14	38061468	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	13176908	38061468	69288072	208	19326											
FSCB	84075	broad.mit.edu	37	chr14	44975557	44975557	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatgaagttctgctgatatTtttctgcccaatttcttcat	10	18	5	8	0	4	2	1	2	3	0	4	2	4	2	1	0	2	2	1	0	4	6	rs140155770		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:44975557T>A	ENST00000340446.4	-	1	925	c.634A>T	c.(634-636)Aat>Tat	p.N212Y		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	212						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGCTGATATTTTTCTGCCCA	0.403													34	100					0	0	0	0	A	44975557	T	A	44975557	3	1	100	1	0	0	0	0	1	0	0	0	6114	1841	64	5	1847	5	FSCB	14	44975557	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	6914089	44975557	62373983	209	19327											
ERO1L	30001	broad.mit.edu	37	chr14	53112872	53112872	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtacattcaaactaacCttccaaatgcgttgaataat	15	13	4	9	1	2	1	2	1	0	0	3	1	3	1	2	0	4	2	2	0	6	7			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:53112872C>G	ENST00000395686.3	-	15	1569	c.1346_splice	c.e15+1	p.R449_splice		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	449					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					TCAAACTAACCTTCCAAATGC	0.333													14	34					0	0	0	0	G	53112872	C	G	53112872	5	3	100	1	0	0	0	0	0	0	1	0	5277	695	24	4	68	4	ERO1L	14	53112872	Splice_Site	SNP	C	TCGA-CN-6021-01A-11D-1683-08	8137315	53112872	54236668	210	19328											
SYNE2	23224	broad.mit.edu	37	chr14	64630217	64630217	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagagtccagcacccacaTgctcctcccgggccccctgc	6	5	9	21	2	0	1	0	0	0	1	3	1	3	1	6	1	3	3	6	1	0	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:64630217T>A	ENST00000357395.3	+	90	16696	c.5552T>A	c.(5551-5553)aTg>aAg	p.M1851K	SYNE2_ENST00000394768.2_Missense_Mutation_p.M1851K|SYNE2_ENST00000555002.1_Missense_Mutation_p.M2100K|SYNE2_ENST00000554584.1_Missense_Mutation_p.M5383K|SYNE2_ENST00000358025.3_Missense_Mutation_p.M5466K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.M5466K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5466					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCACCCACATGCTCCTCCCG	0.502													15	51					0	0	0	0	A	64630217	T	A	64630217	3	1	100	1	0	0	0	0	1	0	0	0	15537	1464	51	5	16747	5	SYNE2	14	64630217	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	11517345	64630217	42719323	211	19329											
FUT8	2530	broad.mit.edu	37	chr14	66208932	66208932	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacaatcaaattgccatttAtgctcaccaaccccgaactg	13	9	4	15	1	2	0	2	0	0	0	2	1	2	0	5	0	4	1	5	0	5	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:66208932A>C	ENST00000360689.5	+	11	3259	c.1532A>C	c.(1531-1533)tAt>tCt	p.Y511S	FUT8_ENST00000394585.1_Missense_Mutation_p.Y511S|FUT8_ENST00000394586.2_Missense_Mutation_p.Y511S|FUT8_ENST00000417683.1_Missense_Mutation_p.Y105S|FUT8_ENST00000557164.1_Missense_Mutation_p.Y348S|FUT8_ENST00000358307.2_Missense_Mutation_p.Y382S	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	511	SH3.				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ATTGCCATTTATGCTCACCAA	0.433													38	77					0	0	0	0	C	66208932	A	C	66208932	3	2	100	1	0	0	0	0	1	0	0	0	6158	449	16	5	1665	5	FUT8	14	66208932	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	1578715	66208932	41140608	212	19330											
SERPINA4	5267	broad.mit.edu	37	chr14	95030105	95030105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctgggggcctgctcaCacagccgcagccagatcctt	6	9	10	16	1	1	1	1	0	0	1	3	1	3	1	5	2	3	2	5	2	0	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:95030105C>A	ENST00000557004.1	+	2	707	c.286C>A	c.(286-288)Cac>Aac	p.H96N	SERPINA4_ENST00000555095.1_Missense_Mutation_p.H96N|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.H96N			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	96					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GGCCTGCTCACACAGCCGCAG	0.607													15	37					9.16793e-09	1.06773e-08	1	0	A	95030105	C	A	95030105	3	1	100	1	0	0	0	0	1	0	0	0	14178	478	17	4	288	4	SERPINA4	14	95030105	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	28821173	95030105	12319435	213	19331											
AQR	9716	broad.mit.edu	37	chr15	35224630	35224630	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccagcgccttgtgggtagCagggcctgggaaaaacaaac	13	5	13	10	1	0	0	0	0	0	0	0	1	0	1	3	3	5	2	3	3	5	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:35224630C>T	ENST00000156471.5	-	11	1014	c.789G>A	c.(787-789)ctG>ctA	p.L263L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	263						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTGTGGGTAGCAGGGCCTGGG	0.418													18	31					0	0	0	0	T	35224630	C	T	35224630	2	4	100	1	0	0	0	0	0	0	0	1	837	697	25	4		4	AQR	15	35224630	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08		35224630	67306762	214	19332											
SPRED1	161742	broad.mit.edu	37	chr15	38643248	38643248	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatcagacatgtcagctttCaagatgaggatgagattgtc	13	11	10	7	0	3	4	3	2	0	3	4	6	3	5	0	1	1	1	0	1	2	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:38643248C>T	ENST00000299084.4	+	7	1578	c.718C>T	c.(718-720)Caa>Taa	p.Q240*		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	240	KBD.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGTCAGCTTTCAAGATGAGGA	0.388									Legius syndrome				3	21					0	0	0	0	T	38643248	C	T	38643248	4	4	100	1	0	0	0	0	0	1	0	0	15182	827	29	2	744	2	SPRED1	15	38643248	Nonsense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	3418618	38643248	63888144	215	19333											
TGM5	9333	broad.mit.edu	37	chr15	43552359	43552359	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaccgacccacggccgcCgtgggaggagcgcacaagct	9	3	15	14	5	0	0	0	0	0	0	0	3	0	2	4	4	3	3	4	4	2	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:43552359C>G	ENST00000220420.5	-	3	334	c.327G>C	c.(325-327)acG>acC	p.T109T	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	109			T -> M.		epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCACGGCCGCCGTGGGAGGAG	0.612													10	100					0	0	0	0	G	43552359	C	G	43552359	2	3	100	1	0	0	0	0	0	0	0	1	15927	639	23	3		3	TGM5	15	43552359	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	4909111	43552359	58979033	216	19334											
FBN1	2200	broad.mit.edu	37	chr15	48807700	48807700	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggaccaactggcagtaaTcagtaacgtttactggcagc	12	8	11	10	2	1	0	1	0	0	0	1	1	1	1	1	3	5	5	1	3	4	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:48807700T>A	ENST00000316623.5	-	12	1807	c.1352A>T	c.(1351-1353)gAt>gTt	p.D451V		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	451	EGF-like 6.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGGCAGTAATCAGTAACGTT	0.438													10	84					0	0	0	0	A	48807700	T	A	48807700	3	1	100	1	0	0	0	0	1	0	0	0	5747	1435	50	5	7483	5	FBN1	15	48807700	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	5255341	48807700	53723692	217	19335											
SV2B	9899	broad.mit.edu	37	chr15	91835755	91835755	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgattgcccttcgactgccAgagactcgagaacaggtcct	9	9	10	13	2	0	3	0	1	0	2	3	6	1	3	3	1	3	0	3	1	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:91835755A>G	ENST00000394232.1	+	13	2495	c.2025A>G	c.(2023-2025)ccA>ccG	p.P675P	SV2B_ENST00000545111.2_Silent_p.P524P|SV2B_ENST00000330276.4_Silent_p.P675P	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	675					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTCGACTGCCAGAGACTCGAG	0.507													8	60					0	0	0	0	G	91835755	A	G	91835755	2	3	100	1	0	0	0	0	0	0	0	1	15508	175	7	5		5	SV2B	15	91835755	Silent	SNP	A	TCGA-CN-6021-01A-11D-1683-08	43028055	91835755	10695637	218	19336											
MEFV	4210	broad.mit.edu	37	chr16	3293434	3293434	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacccagtagccattctCtggcgacagagtcatgttcc	9	9	8	15	1	2	1	1	0	1	1	4	2	3	1	4	1	1	2	4	1	1	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr16:3293434C>A	ENST00000219596.1	-	10	2092	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*	MEFV_ENST00000339854.4_Nonsense_Mutation_p.E505*|MEFV_ENST00000536379.1_Nonsense_Mutation_p.E474*|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	685	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TAGCCATTCTCTGGCGACAGA	0.552													50	113					1.4374e-25	2.07202e-25	1	0	A	3293434	C	A	3293434	4	1	100	1	0	0	0	0	0	1	0	0	9528	922	32	2	296	2	MEFV	16	3293434	Nonsense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08		3293434	87061319	219	19337											
CPPED1	55313	broad.mit.edu	37	chr16	12798612	12798612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatggcatgctggcagtgcCgctgcctcgcgatgctcagc	5	8	14	14	4	1	0	1	0	0	0	2	2	1	0	2	2	5	5	2	2	0	0	rs118082950	by1000genomes	TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr16:12798612C>T	ENST00000381774.4	-	3	824	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	195							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CTGGCAGTGCCGCTGCCTCGC	0.602													26	42					0	0	0	0	T	12798612	C	T	12798612	3	4	100	1	0	0	0	0	1	0	0	0	3852	652	23	1	368	1	CPPED1	16	12798612	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	9505178	12798612	77556141	220	19338											
CNOT1	23019	broad.mit.edu	37	chr16	58608535	58608535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcacaagcttgcagacaggCcaacattgtcgccaaagttt	12	9	9	11	1	0	1	0	0	0	1	1	1	0	1	2	1	4	4	2	1	3	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr16:58608535C>A	ENST00000317147.5	-	16	2289	c.1957G>T	c.(1957-1959)Gcc>Tcc	p.A653S	CNOT1_ENST00000569240.1_Missense_Mutation_p.A653S|CNOT1_ENST00000441024.2_Missense_Mutation_p.A653S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	653					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGCAGACAGGCCAACATTGTC	0.418													23	64					6.36457e-07	7.12982e-07	1	0	A	58608535	C	A	58608535	3	1	100	1	0	0	0	0	1	0	0	0	3647	739	26	4	5531	4	CNOT1	16	58608535	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	45809923	58608535	31746218	221	19339											
CDH15	1013	broad.mit.edu	37	chr16	89251624	89251624	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagatgccgacgacccCgagacggacaacgcagcgct	11	2	12	16	6	0	2	0	0	0	2	0	6	0	3	4	1	3	2	4	1	1	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr16:89251624C>A	ENST00000289746.2	+	5	611	c.546C>A	c.(544-546)ccC>ccA	p.P182P		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	182	Cadherin 2.				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)		CCGACGACCCCGAGACGGACA	0.662													3	9					0.115264	0.116793	1	0	A	89251624	C	A	89251624	2	1	100	1	0	0	0	0	0	0	0	1	3129	639	23	3		3	CDH15	16	89251624	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	30643089	89251624	1103129	222	19340											
TP53	7157	broad.mit.edu	37	chr17	7579494	7579495	+	Frame_Shift_Ins	INS	-	-	G																															ggagcagcctctggcattctINSgggagcttcatctggacctg																										TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:7579494_7579495insG	ENST00000420246.2	-	4	324_325	c.192_193insC	c.(190-195)ccgaatfs	p.N65fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.N65fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.N65fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.N65fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.N65fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.N65fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	65	Interaction with HRMT1L2.		R -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R65*(11)|p.0?(8)|p.R65fs*84(3)|p.G59fs*23(3)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGGCATTCTGGGAGCTTCAT	0.614		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			150	119	---	---	---	---					G	7579495	-	G	7579494	7	5	100	1	0	1	1	0	0	0	0	0	16476	1588	55	0	1109	0	TP53	17	7579494	Frame_Shift_Ins	INS	-	TCGA-CN-6021-01A-11D-1683-08		7579494	73615716	223	19341											
MYOCD	93649	broad.mit.edu	37	chr17	12618891	12618891	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacatttggatagtgacaaGgtaatttttgcaaatttctt	14	16	7	4	0	1	1	0	1	1	0	1	2	1	2	0	2	2	2	0	2	5	7			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:12618891G>A	ENST00000425538.1	+	3	377	c.177_splice	c.e3+1	p.K59_splice	MYOCD_ENST00000343344.4_Splice_Site_p.K59_splice	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	59					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATAGTGACAAGGTAATTTTTG	0.408													12	46					0	0	0	0	A	12618891	G	A	12618891	5	1	100	1	0	0	0	0	0	0	1	0	10157	1014	35	4	187	4	MYOCD	17	12618891	Splice_Site	SNP	G	TCGA-CN-6021-01A-11D-1683-08	5039397	12618891	68576319	224	19342											
KSR1	8844	broad.mit.edu	37	chr17	25932786	25932786	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacgcggcatgagaacgtGgtgctcttcatgggggcctg	7	8	16	10	3	2	2	1	1	1	2	2	3	2	2	1	4	2	2	1	4	1	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:25932786G>T	ENST00000398988.3	+	16	2041	c.1596G>T	c.(1594-1596)gtG>gtT	p.V532V	KSR1_ENST00000268763.6_Silent_p.V532V|KSR1_ENST00000509603.2_Silent_p.V647V|KSR1_ENST00000319524.6_Silent_p.V669V	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	667					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ATGAGAACGTGGTGCTCTTCA	0.597													4	7					0.00024832	0.000261317	1	0	T	25932786	G	T	25932786	2	4	100	1	0	0	0	0	0	0	0	1	8634	1335	47	4		4	KSR1	17	25932786	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	13313895	25932786	55262424	225	19343											
LHX1	3975	broad.mit.edu	37	chr17	35297814	35297814	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagaacagccttcactcggGtgaggccccaattcctggct	9	8	11	13	1	1	2	1	1	0	1	3	3	2	2	4	3	2	1	4	3	2	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:35297814G>C	ENST00000254457.5	+	2	1808		c.e2+1		RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1						cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CTTCACTCGGGTGAGGCCCCA	0.562													5	22					0	0	0	0	C	35297814	G	C	35297814	5	2	100	1	0	0	0	0	0	0	1	0	8824	1275	44	4	404	4	LHX1	17	35297814	Splice_Site	SNP	G	TCGA-CN-6021-01A-11D-1683-08	9365028	35297814	45897396	226	19344											
MED1	5469	broad.mit.edu	37	chr17	37564503	37564503	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccatctggccgtccagtGggtcttcacccccagggcca	5	7	10	19	1	3	0	1	0	2	0	4	0	4	0	7	3	0	0	7	3	0	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:37564503G>T	ENST00000300651.6	-	17	4194	c.3971C>A	c.(3970-3972)cCa>cAa	p.P1324Q	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1324	Interaction with TP53.|Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCCGTCCAGTGGGTCTTCACC	0.512										HNSCC(31;0.082)			34	84					4.62619e-21	6.47328e-21	1	0	T	37564503	G	T	37564503	3	4	100	1	0	0	0	0	1	0	0	0	9494	1348	47	4	778	4	MED1	17	37564503	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	2266689	37564503	43630707	227	19345											
KRT24	192666	broad.mit.edu	37	chr17	38856487	38856487	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctacctgcttgttgaacCgctcctcagcctctcggcgg	5	11	10	15	3	3	1	1	1	2	0	5	2	4	1	4	2	4	3	4	2	2	3	rs150081982		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:38856487C>G	ENST00000264651.2	-	4	1060	c.1004G>C	c.(1003-1005)cGg>cCg	p.R335P		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	335	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTTGTTGAACCGCTCCTCAGC	0.547													37	98					0	0	0	0	G	38856487	C	G	38856487	3	3	100	1	0	0	0	0	1	0	0	0	8513	652	23	3	593	3	KRT24	17	38856487	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	1291984	38856487	42338723	228	19346											
KCNH4	23415	broad.mit.edu	37	chr17	40330942	40330942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcaggtcttctgcatgAcctcggtgcgaccgtagcct	6	10	12	13	3	2	1	0	1	2	0	3	2	2	1	3	2	5	4	3	2	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:40330942A>G	ENST00000264661.3	-	2	511	c.179T>C	c.(178-180)gTc>gCc	p.V60A	KCNH4_ENST00000607371.1_Missense_Mutation_p.V60A	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	60	PAS.				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTCTGCATGACCTCGGTGCG	0.637													16	34					0	0	0	0	G	40330942	A	G	40330942	3	3	100	1	0	0	0	0	1	0	0	0	8087	275	10	5	2934	5	KCNH4	17	40330942	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	1474455	40330942	40864268	229	19347											
RNF213	57674	broad.mit.edu	37	chr17	78363670	78363670	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacaccattgccctctggCagttcctgtctgctcataag	9	11	7	14	0	3	0	1	0	2	0	4	0	4	0	3	1	3	3	3	1	2	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:78363670C>G	ENST00000582970.1	+	66	15381	c.15238C>G	c.(15238-15240)Cag>Gag	p.Q5080E	RNF213_ENST00000336301.6_Missense_Mutation_p.Q3153E|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.Q5129E|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCCCTCTGGCAGTTCCTGTC	0.537													27	46					0	0	0	0	G	78363670	C	G	78363670	3	3	100	1	0	0	0	0	1	0	0	0	13562	711	25	4	15815	4	RNF213	17	78363670	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	38032728	78363670	2831540	230	19348											
PTPRM	5797	broad.mit.edu	37	chr18	8380391	8380391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctggattatcactgcacatCcgtagttatgctaaatgatg	11	13	8	9	1	1	1	1	1	0	0	2	2	2	2	2	1	2	4	2	1	5	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:8380391C>T	ENST00000332175.8	+	27	4882	c.3845C>T	c.(3844-3846)tCc>tTc	p.S1282F	PTPRM_ENST00000580170.1_Missense_Mutation_p.S1295F|PTPRM_ENST00000400060.4_Missense_Mutation_p.S1296F|PTPRM_ENST00000400053.4_Missense_Mutation_p.S1220F|PTPRM_ENST00000444013.1_Missense_Mutation_p.S1069F	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1282	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CACTGCACATCCGTAGTTATG	0.458													14	39					0	0	0	0	T	8380391	C	T	8380391	3	4	100	1	0	0	0	0	1	0	0	0	12888	855	30	2	3998	2	PTPRM	18	8380391	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08		8380391	69696857	231	19349											
POTEC	388468	broad.mit.edu	37	chr18	14542858	14542858	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccacttgcccatcttGctcctgagcgtcttcataaa	9	11	6	15	1	3	1	1	1	2	0	4	1	4	1	3	0	4	2	3	0	2	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:14542858G>C	ENST00000358970.5	-	1	287	c.288C>G	c.(286-288)agC>agG	p.S96R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	96										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCCCATCTTGCTCCTGAGCG	0.612													9	206					0	0	0	0	C	14542858	G	C	14542858	3	2	100	1	0	0	0	0	1	0	0	0	12334	1310	46	4	1384	4	POTEC	18	14542858	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	6162467	14542858	63534390	232	19350											
NARS	4677	broad.mit.edu	37	chr18	55274528	55274528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttgaagagtgtggcaccaCcttctacttgtgtttgcact	7	14	10	10	0	1	2	0	1	1	1	1	2	1	2	2	1	2	4	2	1	2	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:55274528C>T	ENST00000256854.5	-	9	1294	c.839G>A	c.(838-840)gGt>gAt	p.G280D	NARS_ENST00000423481.2_Missense_Mutation_p.G31D	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	280					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	TGTGGCACCACCTTCTACTTG	0.438													28	58					0	0	0	0	T	55274528	C	T	55274528	3	4	100	1	0	0	0	0	1	0	0	0	10240	507	18	4	831	4	NARS	18	55274528	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	40731670	55274528	22802720	233	19351											
ZNF532	55205	broad.mit.edu	37	chr18	56651435	56651435	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggcctctgctacacgtctCacgtctctctgtccaggcac	5	11	9	16	2	4	0	1	0	4	0	7	0	5	0	2	2	2	2	2	2	1	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:56651435C>G	ENST00000336078.4	+	11	4419	c.3643C>G	c.(3643-3645)Cac>Gac	p.H1215D	ZNF532_ENST00000589288.1_Missense_Mutation_p.H1215D|ZNF532_ENST00000591083.1_Missense_Mutation_p.H1215D|ZNF532_ENST00000591230.1_Missense_Mutation_p.H1215D|ZNF532_ENST00000591808.1_Missense_Mutation_p.H1215D|ZNF532_ENST00000588956.1_3'UTR	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTACACGTCTCACGTCTCTCT	0.527													7	58					0	0	0	0	G	56651435	C	G	56651435	3	3	100	1	0	0	0	0	1	0	0	0	18067	826	29	2	3673	2	ZNF532	18	56651435	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	1376907	56651435	21425813	234	19352											
CDH7	1005	broad.mit.edu	37	chr18	63511088	63511088	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaagttacacgctacggaTagaagctgcaaataaagatg	18	7	9	7	2	0	2	0	0	0	2	0	3	0	3	0	1	5	4	0	1	9	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:63511088T>C	ENST00000536984.2	+	7	1716	c.1022T>C	c.(1021-1023)aTa>aCa	p.I341T	CDH7_ENST00000397968.2_Missense_Mutation_p.I341T|CDH7_ENST00000323011.3_Missense_Mutation_p.I341T			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	341	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACGCTACGGATAGAAGCTGCA	0.443													24	49					0	0	0	0	C	63511088	T	C	63511088	3	2	100	1	0	0	0	0	1	0	0	0	3144	1406	49	5	1044	5	CDH7	18	63511088	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	6859653	63511088	14566160	235	19353											
CDH19	28513	broad.mit.edu	37	chr18	64235938	64235938	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgtttccattgtctaaatCagatcttagctgcaaatgga	12	15	7	7	0	3	1	1	0	2	1	4	2	4	2	1	1	2	3	1	1	4	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:64235938C>G	ENST00000262150.2	-	3	497	c.205G>C	c.(205-207)Gat>Cat	p.D69H	CDH19_ENST00000540086.1_Missense_Mutation_p.D69H	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	69	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTGTCTAAATCAGATCTTAGC	0.333													13	45					0	0	0	0	G	64235938	C	G	64235938	3	3	100	1	0	0	0	0	1	0	0	0	3133	826	29	2	2153	2	CDH19	18	64235938	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	724850	64235938	13841310	236	19354											
CD226	10666	broad.mit.edu	37	chr18	67531612	67531612	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacataaatatcctctcttgTatcatccatggattgattgg	11	15	7	8	0	2	1	1	1	1	0	5	3	4	2	2	2	0	1	2	2	4	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:67531612T>A	ENST00000280200.4	-	7	1217	c.949A>T	c.(949-951)Aca>Tca	p.T317S	CD226_ENST00000581982.1_Missense_Mutation_p.T162S|CD226_ENST00000582621.1_Missense_Mutation_p.T317S|CD226_ENST00000577287.1_Missense_Mutation_p.T162S	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	317					cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TCCTCTCTTGTATCATCCATG	0.388													33	61					0	0	0	0	A	67531612	T	A	67531612	3	1	100	1	0	0	0	0	1	0	0	0	3015	1638	57	5	65	5	CD226	18	67531612	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	3295674	67531612	10545636	237	19355											
CBLN2	147381	broad.mit.edu	37	chr18	70209049	70209049	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacggctgacctggtcgaaaTagatggtcatggtgcggttg	8	10	16	7	3	1	2	1	1	0	1	2	4	1	2	1	5	1	2	1	5	2	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:70209049T>A	ENST00000269503.4	-	3	1120	c.347A>T	c.(346-348)tAt>tTt	p.Y116F	CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.Y116F	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	116	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CTGGTCGAAATAGATGGTCAT	0.706													10	11					0	0	0	0	A	70209049	T	A	70209049	3	1	100	1	0	0	0	0	1	0	0	0	2730	1406	49	5	339	5	CBLN2	18	70209049	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	2677437	70209049	7868199	238	19356											
THEG	51298	broad.mit.edu	37	chr19	371226	371226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagacatgggcatgctccaGaagttatcacgaatcttcgg	11	10	10	10	2	3	2	2	0	1	2	5	3	4	2	1	2	1	3	1	2	3	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:371226G>C	ENST00000342640.4	-	6	774	c.732C>G	c.(730-732)ttC>ttG	p.F244L	THEG_ENST00000346878.2_Missense_Mutation_p.F220L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	244					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCATGCTCCAGAAGTTATCAC	0.642													52	189					0	0	0	0	C	371226	G	C	371226	3	2	100	1	0	0	0	0	1	0	0	0	15951	933	33	2	419	2	THEG	19	371226	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08		371226	58757757	239	19357											
ACER1	125981	broad.mit.edu	37	chr19	6306747	6306747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtccttgtcatcacccCggatttccacgtagggcagc	8	9	10	14	2	2	0	2	0	0	0	4	1	4	1	4	2	2	3	4	2	1	3	rs144461069		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:6306747C>T	ENST00000301452.4	-	6	850	c.773G>A	c.(772-774)cGg>cAg	p.R258Q		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	258						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GTCATCACCCCGGATTTCCAC	0.577													14	61					0	0	0	0	T	6306747	C	T	6306747	3	4	100	1	0	0	0	0	1	0	0	0	138	652	23	1	25	1	ACER1	19	6306747	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	5935521	6306747	52822236	240	19358											
C3	718	broad.mit.edu	37	chr19	6693060	6693060	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatggcgatgaggttgacagCcagagagaagaccttgacca	13	6	14	8	1	0	6	0	3	0	3	0	9	0	6	3	2	1	1	3	2	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:6693060C>G	ENST00000245907.6	-	26	3357	c.3265G>C	c.(3265-3267)Gct>Cct	p.A1089P		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1089					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGGTTGACAGCCAGAGAGAAG	0.587													28	177					0	0	0	0	G	6693060	C	G	6693060	3	3	100	1	0	0	0	0	1	0	0	0	2224	739	26	4	1790	4	C3	19	6693060	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	386313	6693060	52435923	241	19359											
CCL25	6370	broad.mit.edu	37	chr19	8122770	8122770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcccatcagcagcagtaaGaggaatgtctccctcctgat	12	9	8	12	0	2	2	1	1	1	1	5	3	4	3	3	1	2	3	3	1	3	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:8122770G>C	ENST00000253451.4	+	5	514	c.408G>C	c.(406-408)aaG>aaC	p.K136N	CCL25_ENST00000390669.3_Missense_Mutation_p.K137N	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	137					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						gcagcagtaagaggaatgtct	0.478													45	57					0	0	0	0	C	8122770	G	C	8122770	3	2	100	1	0	0	0	0	1	0	0	0	2924	933	33	2	425	2	CCL25	19	8122770	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	1429710	8122770	51006213	242	19360											
HNRNPM	4670	broad.mit.edu	37	chr19	8551028	8551029	+	Frame_Shift_Ins	INS	-	-	G																															tgggcctggagcgcatgggcINSgccaacagcctcgagcgcat																										TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:8551028_8551029insG	ENST00000348943.3	+	15	1831_1832	c.1599_1600insG	c.(1597-1602)ggccaafs	p.Q534fs	HNRNPM_ENST00000325495.4_Frame_Shift_Ins_p.Q573fs	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	573	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGCGCATGGGCGCCAACAGCCT	0.713													35	130	---	---	---	---					G	8551029	-	G	8551028	7	5	100	1	0	1	1	0	0	0	0	0	7321	755	27	0	1770	0	HNRNPM	19	8551028	Frame_Shift_Ins	INS	-	TCGA-CN-6021-01A-11D-1683-08	428258	8551028	50577955	243	19361											
TRMT1	55621	broad.mit.edu	37	chr19	13221060	13221060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgatgctgagcagcggcaCcacgaagcgctggtagcagt	9	6	15	11	3	0	2	0	2	0	0	0	3	0	2	1	2	5	7	1	2	2	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:13221060C>A	ENST00000592062.1	-	9	1501	c.931G>T	c.(931-933)Gtg>Ttg	p.V311L	TRMT1_ENST00000357720.4_Missense_Mutation_p.V311L|TRMT1_ENST00000437766.1_Missense_Mutation_p.V311L|TRMT1_ENST00000221504.8_Missense_Mutation_p.V311L			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	311							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AGCAGCGGCACCACGAAGCGC	0.652													21	20					1.50039e-11	1.87304e-11	1	0	A	13221060	C	A	13221060	3	1	100	1	0	0	0	0	1	0	0	0	16656	507	18	4	1088	4	TRMT1	19	13221060	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	4670032	13221060	45907923	244	19362											
SLC5A5	6528	broad.mit.edu	37	chr19	17986870	17986870	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtgggcgggccccgccAggtgctcacgctggcccaga	4	6	16	15	3	1	1	1	0	0	1	1	1	1	1	4	4	1	3	4	4	0	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:17986870A>T	ENST00000222248.3	+	5	1000	c.653A>T	c.(652-654)cAg>cTg	p.Q218L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	218					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGGCCCCGCCAGGTGCTCACG	0.607													25	106					0	0	0	0	T	17986870	A	T	17986870	3	4	100	1	0	0	0	0	1	0	0	0	14756	188	7	5	671	5	SLC5A5	19	17986870	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	4765810	17986870	41142113	245	19363											
ZNF626	199777	broad.mit.edu	37	chr19	20808036	20808036	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattttcttatgtctagtaAggctacaagagtggttaaag	13	14	10	4	0	2	1	0	0	2	1	2	2	2	1	0	2	1	3	0	2	8	7			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:20808036A>T	ENST00000601440.1	-	4	793	c.647T>A	c.(646-648)cTt>cAt	p.L216H	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						ATGTCTAGTAAGGCTACAAGA	0.388													31	35					0	0	0	0	T	20808036	A	T	20808036	3	4	100	1	0	0	0	0	1	0	0	0	18145	72	3	5	943	5	ZNF626	19	20808036	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	2821166	20808036	38320947	246	19364											
ZNF536	9745	broad.mit.edu	37	chr19	30934689	30934689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcccacgtgcccatgagcGgccagcccatgggcagtcag	8	4	14	15	2	1	1	1	1	0	0	1	1	1	1	4	3	3	1	4	3	0	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:30934689G>T	ENST00000355537.3	+	2	367	c.220G>T	c.(220-222)Ggc>Tgc	p.G74C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCATGAGCGGCCAGCCCAT	0.682													30	47					9.65021e-13	1.22879e-12	1	0	T	30934689	G	T	30934689	3	4	100	1	0	0	0	0	1	0	0	0	18069	1116	39	3	222	3	ZNF536	19	30934689	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	10126653	30934689	28194294	247	19365											
ANKRD27	84079	broad.mit.edu	37	chr19	33110271	33110271	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagtccacggagcgctgcggGgactgcacaggggcctgcag	7	4	18	12	3	0	0	0	0	0	0	1	3	1	2	2	5	4	3	2	5	0	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:33110271G>A	ENST00000306065.4	-	20	2060	c.1902C>T	c.(1900-1902)tcC>tcT	p.S634S		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	634					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AGCGCTGCGGGGACTGCACAG	0.602													20	52					0	0	0	0	A	33110271	G	A	33110271	2	1	100	1	0	0	0	0	0	0	0	1	655	1219	43	4		4	ANKRD27	19	33110271	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	2175582	33110271	26018712	248	19366											
ARHGAP33	115703	broad.mit.edu	37	chr19	36278998	36278998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacctagctctagggcccagGggtccctcacctgcctcttc	6	9	9	17	0	3	0	1	0	2	0	5	0	4	0	5	3	3	1	5	3	3	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:36278998G>T	ENST00000007510.4	+	21	3675	c.3531G>T	c.(3529-3531)agG>agT	p.R1177S	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R1016S|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R1013S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1177					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TAGGGCCCAGGGGTCCCTCAC	0.672													42	47					6.2361e-21	8.66252e-21	1	0	T	36278998	G	T	36278998	3	4	100	1	0	0	0	0	1	0	0	0	884	1223	43	4	3613	4	ARHGAP33	19	36278998	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	3168727	36278998	22849985	249	19367											
ZNF383	163087	broad.mit.edu	37	chr19	37733492	37733492	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagtactccagttttggAgatgttttggaatatagaag	11	15	11	4	0	0	3	0	1	0	2	1	5	1	4	1	2	1	3	1	2	5	8			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:37733492A>T	ENST00000589413.1	+	8	937	c.354A>T	c.(352-354)ggA>ggT	p.G118G	ZNF383_ENST00000352998.3_Silent_p.G118G|ZNF383_ENST00000590503.1_Silent_p.G118G			Q8NA42	ZN383_HUMAN	zinc finger protein 383	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGTTTTGGAGATGTTTTGG	0.373													37	57					0	0	0	0	T	37733492	A	T	37733492	2	4	100	1	0	0	0	0	0	0	0	1	17969	291	11	5		5	ZNF383	19	37733492	Silent	SNP	A	TCGA-CN-6021-01A-11D-1683-08	1454494	37733492	21395491	250	19368											
ZNF235	9310	broad.mit.edu	37	chr19	44791701	44791701	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccttaccacaagtgtcAcatttatatggtttctctcc	10	14	6	11	0	2	0	1	0	1	0	4	0	3	0	3	2	1	1	3	2	5	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:44791701A>G	ENST00000291182.4	-	5	1989	c.1887T>C	c.(1885-1887)tgT>tgC	p.C629C	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CACAAGTGTCACATTTATATG	0.443													55	58					0	0	0	0	G	44791701	A	G	44791701	2	3	100	1	0	0	0	0	0	0	0	1	17883	157	6	5		5	ZNF235	19	44791701	Silent	SNP	A	TCGA-CN-6021-01A-11D-1683-08	7058209	44791701	14337282	251	19369											
ZNF808	388558	broad.mit.edu	37	chr19	53056767	53056767	+	Frame_Shift_Del	DEL	C	C	-																															cccaaagaatttcctgtaggCcccaaatccatatttctaat																										TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:53056767delC	ENST00000359798.4	+	5	778	c.598delC	c.(598-600)ccfs	p.P200fs		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TTCCTGTAGGCCCCAAATCCA	0.378													105	148	---	---	---	---					-	53056767	C	-	53056767	7	5	100	1	0	1	0	1	0	0	0	0	18266	739	26	0	608	0	ZNF808	19	53056767	Frame_Shift_Del	DEL	C	TCGA-CN-6021-01A-11D-1683-08	8265066	53056767	6072216	252	19370											
NLRP12	91662	broad.mit.edu	37	chr19	54327405	54327405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacaggcgacagaggccGtccctgcctgcggttcgtag	6	7	16	12	4	0	1	0	0	0	1	2	3	1	2	3	4	2	2	3	4	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:54327405G>A	ENST00000324134.6	-	1	192	c.24C>T	c.(22-24)gaC>gaT	p.D8D	NLRP12_ENST00000391772.1_Silent_p.D8D|NLRP12_ENST00000391775.3_Silent_p.D8D|NLRP12_ENST00000345770.5_Silent_p.D8D|NLRP12_ENST00000391773.1_Silent_p.D8D|NLRP12_ENST00000354278.3_Silent_p.D8D|NLRP12_ENST00000351894.4_Silent_p.D8D|NLRP12_ENST00000535162.1_Silent_p.D8D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	8	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.D8E(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GACAGAGGCCGTCCCTGCCTG	0.612													15	61					0	0	0	0	A	54327405	G	A	54327405	2	1	100	1	0	0	0	0	0	0	0	1	10544	1136	40	1		1	NLRP12	19	54327405	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	1270638	54327405	4801578	253	19371											
CACNG6	59285	broad.mit.edu	37	chr19	54515283	54515283	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagagtcagcccggagcctcCcccggccccacgcctcacct	6	4	10	21	3	2	1	2	0	0	1	3	3	3	2	8	2	2	0	8	2	0	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:54515283C>A	ENST00000252729.2	+	4	1213	c.623C>A	c.(622-624)cCc>cAc	p.P208H	CACNG6_ENST00000352529.1_Missense_Mutation_p.P137H|CACNG6_ENST00000346968.2_Missense_Mutation_p.P162H	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	208						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CCGGAGCCTCCCCCGGCCCCA	0.697													37	46					1.62957e-23	2.31411e-23	1	0	A	54515283	C	A	54515283	3	1	100	1	0	0	0	0	1	0	0	0	2586	623	22	4	637	4	CACNG6	19	54515283	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	187878	54515283	4613700	254	19372											
GP6	51206	broad.mit.edu	37	chr19	55526217	55526217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcttccacgctccacaCacgccagtctttgagtcgcc	6	10	7	18	3	1	1	0	1	1	0	5	1	4	1	5	0	1	2	5	0	0	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:55526217C>T	ENST00000310373.3	-	8	1123	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	GP6_ENST00000333884.2_3'UTR|GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	0					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ACGCTCCACACACGCCAGTCT	0.602													15	30					0	0	0	0	T	55526217	C	T	55526217	3	4	100	1	0	0	0	0	1	0	0	0	6633	478	17	4	770	4	GP6	19	55526217	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	1010934	55526217	3602766	255	19373											
ZNF667	63934	broad.mit.edu	37	chr19	56953604	56953604	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttccgcactttctgcactGgcagacattcccaacaacat	10	12	5	14	1	1	1	0	0	1	1	3	1	3	1	2	1	3	3	2	1	2	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:56953604G>A	ENST00000504904.3	-	7	1479	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	ZNF667_ENST00000292069.6_Nonsense_Mutation_p.Q254*|ZNF667_ENST00000342634.3_Nonsense_Mutation_p.Q382*|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTTCTGCACTGGCAGACATTC	0.358													23	118					0	0	0	0	A	56953604	G	A	56953604	4	1	100	1	0	0	0	0	0	1	0	0	18169	1357	47	4	1076	4	ZNF667	19	56953604	Nonsense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	1427387	56953604	2175379	256	19374											
USP29	57663	broad.mit.edu	37	chr19	57641701	57641701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacctcttcccttgagcaGtagtgcacctgttgggaaat	9	11	9	12	0	1	1	0	1	1	0	2	2	2	2	4	1	2	4	4	1	2	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:57641701G>T	ENST00000254181.4	+	4	2112	c.1658G>T	c.(1657-1659)aGt>aTt	p.S553I	USP29_ENST00000598197.1_Missense_Mutation_p.S553I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	553					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.S553I(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCTTGAGCAGTAGTGCACCT	0.423													39	175					8.16277e-20	1.12165e-19	1	0	T	57641701	G	T	57641701	3	4	100	1	0	0	0	0	1	0	0	0	17155	1029	36	4	1660	4	USP29	19	57641701	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	688097	57641701	1487282	257	19375											
FAM83C	128876	broad.mit.edu	37	chr20	33874604	33874604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagctccagccgtgcgagCagggcttgatatcgggagac	8	6	14	13	3	0	2	0	1	0	1	2	4	1	2	3	2	4	3	3	2	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:33874604C>T	ENST00000374408.3	-	4	2074	c.1978G>A	c.(1978-1980)Gct>Act	p.A660T		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	660										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCGTGCGAGCAGGGCTTGAT	0.627													12	37					0	0	0	0	T	33874604	C	T	33874604	3	4	100	1	0	0	0	0	1	0	0	0	5681	710	25	4	269	4	FAM83C	20	33874604	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08		33874604	29150916	258	19376											
CHD6	84181	broad.mit.edu	37	chr20	40068726	40068726	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcccaactttctccaggaaGcaaagtgctgggtctgctcg	9	10	10	12	1	2	0	0	0	2	0	5	1	3	1	2	2	4	3	2	2	3	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:40068726G>A	ENST00000373233.3	-	26	4098	c.3921C>T	c.(3919-3921)tgC>tgT	p.C1307C	CHD6_ENST00000309279.7_Silent_p.C790C	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1307					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTCCAGGAAGCAAAGTGCTG	0.473													19	42					0	0	0	0	A	40068726	G	A	40068726	2	1	100	1	0	0	0	0	0	0	0	1	3358	963	34	4		4	CHD6	20	40068726	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	6194122	40068726	22956794	259	19377											
SGK2	10110	broad.mit.edu	37	chr20	42195737	42195737	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaatgggaacatcaacctGgggccttcagccaacccaaa	13	5	9	14	0	2	0	2	0	0	0	2	1	2	1	5	3	4	0	5	3	5	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:42195737G>A	ENST00000373100.1	+	4	526	c.66G>A	c.(64-66)ctG>ctA	p.L22L	SGK2_ENST00000373077.1_Silent_p.L22L|SGK2_ENST00000373092.3_Silent_p.L22L|SGK2_ENST00000341458.4_Silent_p.L82L|SGK2_ENST00000426287.1_Silent_p.L48L|SGK2_ENST00000423407.3_Silent_p.L22L			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	82					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACATCAACCTGGGGCCTTCAG	0.537													9	21					0	0	0	0	A	42195737	G	A	42195737	2	1	100	1	0	0	0	0	0	0	0	1	14296	1335	47	4		4	SGK2	20	42195737	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	2127011	42195737	20829783	260	19378											
EYA2	2139	broad.mit.edu	37	chr20	45633631	45633631	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccacagccatggcagcctAcggccagacgcagtacagtg	10	6	11	14	2	0	1	0	0	0	1	1	1	1	1	4	2	4	3	4	2	2	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:45633631A>T	ENST00000327619.5	+	4	580	c.206A>T	c.(205-207)tAc>tTc	p.Y69F	EYA2_ENST00000357410.3_Missense_Mutation_p.Y69F|EYA2_ENST00000317304.6_Missense_Mutation_p.Y69F	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	69					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ATGGCAGCCTACGGCCAGACG	0.587													18	66					0	0	0	0	T	45633631	A	T	45633631	3	4	100	1	0	0	0	0	1	0	0	0	5367	391	14	5	216	5	EYA2	20	45633631	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	3437894	45633631	17391889	261	19379											
SLC17A9	63910	broad.mit.edu	37	chr20	61594048	61594048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcatcttctatttctcCggcggcctcaccttgctttg	5	14	8	14	2	4	1	1	0	3	1	5	1	4	1	3	2	2	2	3	2	1	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:61594048C>T	ENST00000370349.3	+	6	756	c.552C>T	c.(550-552)tcC>tcT	p.S184S	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Silent_p.S190S			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	190					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCTATTTCTCCGGCGGCCTCA	0.637													44	83					0	0	0	0	T	61594048	C	T	61594048	2	4	100	1	0	0	0	0	0	0	0	1	14512	639	23	1		1	SLC17A9	20	61594048	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	15960417	61594048	1431472	262	19380											
NPBWR2	2832	broad.mit.edu	37	chr20	62737249	62737249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaaggcgtagaggaagggGttcaggcacgagttggcgta	12	6	18	5	3	1	2	1	0	0	2	1	4	1	3	0	6	0	5	0	6	4	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:62737249G>A	ENST00000369768.1	-	1	1275	c.936C>T	c.(934-936)aaC>aaT	p.N312N		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	312						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					AGAGGAAGGGGTTCAGGCACG	0.587													18	39					0	0	0	0	A	62737249	G	A	62737249	2	1	100	1	0	0	0	0	0	0	0	1	10639	1252	44	4		4	NPBWR2	20	62737249	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	1143201	62737249	288271	263	19381											
BAGE2	85319	broad.mit.edu	37	chr21	11039248	11039248	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataccactgttttaggttcCtctaacaactgcagttgctc	9	14	7	11	0	1	0	0	0	1	0	3	1	2	0	2	1	5	5	2	1	4	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr21:11039248C>G	ENST00000470054.1	-	0	955									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTAGGTTCCTCTAACAACT	0.418													9	350					0	0	0	0	G	11039248	C	G	11039248	1	3	100	0	1	0	0	0	0	0	0	0	1296	696	24	4		4	BAGE2	21	11039248	RNA	SNP	C	TCGA-CN-6021-01A-11D-1683-08		11039248	37090647	264	19382											
CHAF1B	8208	broad.mit.edu	37	chr21	37785298	37785298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccagttttgaacatgaGaactcctgatacagcaaaga	16	8	9	8	0	0	4	0	3	0	2	1	6	1	4	2	0	5	2	2	0	5	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr21:37785298G>T	ENST00000314103.4	+	12	1329	c.1178G>T	c.(1177-1179)aGa>aTa	p.R393I		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	393					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TTGAACATGAGAACTCCTGAT	0.483													15	35					2.48551e-13	3.17546e-13	1	0	T	37785298	G	T	37785298	3	4	100	1	0	0	0	0	1	0	0	0	3341	942	33	2	1220	2	CHAF1B	21	37785298	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	26746050	37785298	10344597	265	19383											
BACE2	25825	broad.mit.edu	37	chr21	42647329	42647329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagtgtctgaaatttcCgggcctttctcaacagagga	9	11	11	10	1	2	2	1	1	2	1	4	3	3	3	2	2	2	2	2	2	2	2	rs151128615		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr21:42647329C>T	ENST00000328735.6	+	8	1629	c.1166C>T	c.(1165-1167)cCg>cTg	p.P389L	BACE2_ENST00000330333.6_Silent_p.S445S|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Silent_p.S395S	NM_138992.1	NP_620477.1	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	0					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTGAAATTTCCGGGCCTTTCT	0.517													4	83					0	0	0	0	T	42647329	C	T	42647329	3	4	100	1	0	0	0	0	1	0	0	0	1286	652	23	1	1369	1	BACE2	21	42647329	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	4862031	42647329	5482566	266	19384											
DIP2A	23181	broad.mit.edu	37	chr21	47985689	47985689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttacggggaggaggcgcttCatgccgaccacttcagtgcc	7	9	13	12	3	2	0	2	0	0	0	2	3	2	2	3	4	3	1	3	4	1	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr21:47985689C>T	ENST00000318711.7	+	36	4414	c.4231C>T	c.(4231-4233)Cat>Tat	p.H1411Y	DIP2A_ENST00000417564.2_Missense_Mutation_p.H1410Y|DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000400274.1_Missense_Mutation_p.H1406Y	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1410					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGAGGCGCTTCATGCCGACCA	0.582													10	54					0	0	0	0	T	47985689	C	T	47985689	3	4	100	1	0	0	0	0	1	0	0	0	4564	826	29	2	4483	2	DIP2A	21	47985689	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	5338360	47985689	144206	267	19385											
XKR3	150165	broad.mit.edu	37	chr22	17280839	17280839	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgtgtttctctttgtgatGctaacttgagtctcttcctt	5	20	7	9	1	2	2	0	2	2	0	6	2	3	2	1	0	2	2	1	0	1	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr22:17280839G>A	ENST00000331428.5	-	3	513	c.411C>T	c.(409-411)agC>agT	p.S137S		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	137						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCTTTGTGATGCTAACTTGAG	0.398													34	115					0	0	0	0	A	17280839	G	A	17280839	2	1	100	1	0	0	0	0	0	0	0	1	17528	1310	46	4		4	XKR3	22	17280839	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08		17280839	34023727	268	19386											
ZNF280A	129025	broad.mit.edu	37	chr22	22869807	22869807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaatttgaaatcatccCgacaaagagaacttcagcat	15	12	6	8	1	2	3	2	2	0	1	3	5	3	3	1	0	2	1	1	0	4	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr22:22869807C>T	ENST00000302097.3	-	2	400	c.148G>A	c.(148-150)Ggg>Agg	p.G50R		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GAAATCATCCCGACAAAGAGA	0.423													4	77					0	0	0	0	T	22869807	C	T	22869807	3	4	100	1	0	0	0	0	1	0	0	0	17909	652	23	1	1484	1	ZNF280A	22	22869807	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	5588968	22869807	28434759	269	19387											
MXRA5	25878	broad.mit.edu	37	chrX	3235195	3235195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctccagaggatgcgcGgccaggggtcccccgaggcg	6	3	17	15	4	0	1	0	0	0	1	2	3	2	2	5	5	2	1	5	5	0	0			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:3235195G>T	ENST00000217939.6	-	6	6681	c.6527C>A	c.(6526-6528)cCg>cAg	p.P2176Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2176	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGGATGCGCGGCCAGGGGTC	0.677													5	7					8.12818e-05	8.62491e-05	1	0	T	3235195	G	T	3235195	3	4	100	1	0	0	0	0	1	0	0	0	10073	1116	39	3	1967	3	MXRA5	23	3235195	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08		3235195	152035365	270	19388											
GPR143	4935	broad.mit.edu	37	chrX	9707605	9707605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggaagcagggttttcatggGgcatcagtggggatgggtga	8	9	19	5	1	2	1	2	1	0	0	2	3	2	3	0	7	1	3	0	7	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:9707605G>T	ENST00000467482.1	-	8	1186	c.1040C>A	c.(1039-1041)cCc>cAc	p.P347H	GPR143_ENST00000380929.2_Missense_Mutation_p.P367H|GPR143_ENST00000487206.1_5'UTR			P51810	GP143_HUMAN	G protein-coupled receptor 143	347					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GTTTTCATGGGGCATCAGTGG	0.582													9	18					0.000673444	0.000695285	1	0	T	9707605	G	T	9707605	3	4	100	1	0	0	0	0	1	0	0	0	6700	1232	43	4	182	4	GPR143	23	9707605	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	6472410	9707605	145562955	271	19389											
HCCS	3052	broad.mit.edu	37	chrX	11139818	11139818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gattgattattatgatggtgGtgaagtcaacaaggactacc	13	12	11	5	0	1	3	1	3	0	0	1	5	1	4	1	3	2	0	1	3	6	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:11139818G>T	ENST00000321143.4	+	7	897	c.695G>T	c.(694-696)gGt>gTt	p.G232V	HCCS_ENST00000380762.4_Missense_Mutation_p.G232V|ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380763.3_Missense_Mutation_p.G232V	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	232					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						TATGATGGTGGTGAAGTCAAC	0.448													30	90					1.1423e-28	1.65288e-28	1	0	T	11139818	G	T	11139818	3	4	100	1	0	0	0	0	1	0	0	0	7040	1261	44	4	717	4	HCCS	23	11139818	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	1432213	11139818	144130742	272	19390											
PIR	8544	broad.mit.edu	37	chrX	15497928	15497928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcatcaaacagtaaaaacGgatccagattttttaactga	17	12	5	7	1	2	2	2	1	0	1	3	3	3	3	1	1	3	1	1	1	5	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:15497928G>T	ENST00000380421.3	-	3	573	c.113C>A	c.(112-114)cCg>cAg	p.P38Q	PIR_ENST00000380420.5_Missense_Mutation_p.P38Q|BMX_ENST00000357607.2_Intron|PIR_ENST00000476381.1_5'UTR	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	38					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					CAGTAAAAACGGATCCAGATT	0.343													9	35					7.48243e-07	8.35757e-07	1	0	T	15497928	G	T	15497928	3	4	100	1	0	0	0	0	1	0	0	0	12016	1116	39	3	791	3	PIR	23	15497928	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	4358110	15497928	139772632	273	19391											
BEND2	139105	broad.mit.edu	37	chrX	18220019	18220019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttggataattcgctgtctCagtgctgtttttactgctgt	6	18	10	7	1	1	0	1	0	1	0	3	1	1	1	0	1	3	5	0	1	2	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:18220019C>T	ENST00000380033.4	-	6	1081	c.949G>A	c.(949-951)Gag>Aag	p.E317K	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	317										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTCGCTGTCTCAGTGCTGTTT	0.363													31	86					0	0	0	0	T	18220019	C	T	18220019	3	4	100	1	0	0	0	0	1	0	0	0	1402	835	29	2	1512	2	BEND2	23	18220019	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	2722091	18220019	137050541	274	19392											
PHKA2	5256	broad.mit.edu	37	chrX	18911701	18911701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccataagccccactcggagCgctgtcataaaagaagtggc	12	6	10	13	2	1	1	1	0	0	1	2	2	1	2	3	2	2	1	3	2	4	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:18911701C>A	ENST00000379942.4	-	33	4275	c.3610G>T	c.(3610-3612)Gct>Tct	p.A1204S	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1204					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCACTCGGAGCGCTGTCATAA	0.522													59	164					3.39796e-24	4.8615e-24	1	0	A	18911701	C	A	18911701	3	1	100	1	0	0	0	0	1	0	0	0	11916	768	27	3	101	3	PHKA2	23	18911701	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	691682	18911701	136358859	275	19393											
KLHL34	257240	broad.mit.edu	37	chrX	21674708	21674708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtccaagcgtggaagcgcGggtcgtaacggtgcacttgg	7	7	16	11	6	0	0	0	0	0	0	2	1	1	1	2	4	4	2	2	4	3	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:21674708G>T	ENST00000379499.2	-	1	1740	c.1199C>A	c.(1198-1200)cCg>cAg	p.P400Q		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	400										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GTGGAAGCGCGGGTCGTAACG	0.706													5	14					0.000602214	0.000623431	1	0	T	21674708	G	T	21674708	3	4	100	1	0	0	0	0	1	0	0	0	8439	1116	39	3	739	3	KLHL34	23	21674708	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	2763007	21674708	133595852	276	19394											
KLHL34	257240	broad.mit.edu	37	chrX	21675186	21675186	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcgggcagcacgaggcCagagcccgagtacacgcgcc	8	1	16	16	6	0	1	0	0	0	1	0	3	0	1	4	3	3	3	4	3	1	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:21675186C>A	ENST00000379499.2	-	1	1262	c.721G>T	c.(721-723)Ggc>Tgc	p.G241C		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	241										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						AGCACGAGGCCAGAGCCCGAG	0.677													9	25					9.70103e-10	1.16534e-09	1	0	A	21675186	C	A	21675186	3	1	100	1	0	0	0	0	1	0	0	0	8439	594	21	4	1217	4	KLHL34	23	21675186	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	478	21675186	133595374	277	19395											
SMS	6611	broad.mit.edu	37	chrX	21995233	21995233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatactggcccaccgccgaCgggcgcctggttgaatatga	9	7	13	12	4	0	3	0	2	0	1	0	4	0	3	4	3	1	1	4	3	3	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:21995233C>A	ENST00000404933.2	+	5	636	c.384C>A	c.(382-384)gaC>gaA	p.D128E	SMS_ENST00000415881.2_Missense_Mutation_p.D32E|SMS_ENST00000379404.1_Missense_Mutation_p.D75E|SMS_ENST00000478094.1_3'UTR	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	128					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	CCACCGCCGACGGGCGCCTGG	0.428													27	60					7.41945e-09	8.69396e-09	1	0	A	21995233	C	A	21995233	3	1	100	1	0	0	0	0	1	0	0	0	14901	535	19	3	402	3	SMS	23	21995233	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	320047	21995233	133275327	278	19396											
MAGEB3	4114	broad.mit.edu	37	chrX	30254265	30254265	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actatccaccactacatctgTagatgtttcttacaaaaagt	14	13	4	10	0	2	1	0	0	2	1	3	1	3	1	2	0	2	2	2	0	6	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:30254265T>C	ENST00000361644.2	+	5	961	c.224T>C	c.(223-225)gTa>gCa	p.V75A	MAGEB3_ENST00000378986.1_Missense_Mutation_p.V75A	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	75										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						ACTACATCTGTAGATGTTTCT	0.458													12	20					0	0	0	0	C	30254265	T	C	30254265	3	2	100	1	0	0	0	0	1	0	0	0	9246	1638	57	5	226	5	MAGEB3	23	30254265	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	8259032	30254265	125016295	279	19397											
DMD	1756	broad.mit.edu	37	chrX	31165577	31165577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcaggaggggacggcagtgGggacaggcctttatgttcgt	7	10	17	7	2	1	0	1	0	0	0	2	3	1	3	1	7	0	2	1	7	1	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:31165577G>T	ENST00000357033.4	-	75	10818	c.10612C>A	c.(10612-10614)Cca>Aca	p.P3538T	DMD_ENST00000378702.4_Missense_Mutation_p.P470T|DMD_ENST00000378723.3_Missense_Mutation_p.P470T|DMD_ENST00000541735.1_Missense_Mutation_p.P968T|DMD_ENST00000378707.3_Missense_Mutation_p.P1078T|DMD_ENST00000378680.2_Missense_Mutation_p.P360T|DMD_ENST00000378677.2_Missense_Mutation_p.P3534T|DMD_ENST00000359836.1_Missense_Mutation_p.P1065T|DMD_ENST00000474231.1_Missense_Mutation_p.P1078T|DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000361471.4_Missense_Mutation_p.P457T|DMD_ENST00000343523.2_Missense_Mutation_p.P968T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3538					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GACGGCAGTGGGGACAGGCCT	0.493													11	28					4.68919e-08	5.37919e-08	1	0	T	31165577	G	T	31165577	3	4	100	1	0	0	0	0	1	0	0	0	4617	1232	43	4	551	4	DMD	23	31165577	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	911312	31165577	124104983	280	19398											
NDP	4693	broad.mit.edu	37	chrX	43817843	43817843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctgtatctcccattatcaCcagcagggagagcatagaaa	13	9	9	10	0	3	2	1	0	2	2	4	3	3	2	2	1	2	3	2	1	4	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:43817843C>T	ENST00000378062.5	-	2	456	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	NDP_ENST00000470584.1_Intron|NDP-AS1_ENST00000435093.1_RNA	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	17					canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity			kidney(1)|lung(2)	3						CCCATTATCACCAGCAGGGAG	0.458													18	24					0	0	0	0	T	43817843	C	T	43817843	3	4	100	1	0	0	0	0	1	0	0	0	10320	507	18	4	360	4	NDP	23	43817843	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	12652266	43817843	111452717	281	19399											
TSPYL2	64061	broad.mit.edu	37	chrX	53114157	53114157	+	Frame_Shift_Del	DEL	C	C	-																															ccggctggtgtctcactcaaCcccaatccgctggcaccggg																										TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:53114157delC	ENST00000375442.4	+	4	1151	c.1019delC	c.(1018-1020)acfs	p.T340fs		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	340					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						TCTCACTCAACCCCAATCCGC	0.577													48	91	---	---	---	---					-	53114157	C	-	53114157	7	5	100	1	0	1	0	1	0	0	0	0	16755	507	18	0	1033	0	TSPYL2	23	53114157	Frame_Shift_Del	DEL	C	TCGA-CN-6021-01A-11D-1683-08	9296314	53114157	102156403	282	19400											
DLG3	1741	broad.mit.edu	37	chrX	69699025	69699025	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcgctttgaatcgaagatAcatgacttacgagaacaaat	16	10	8	7	3	0	4	0	2	0	2	2	6	0	4	0	0	3	1	0	0	6	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:69699025A>T	ENST00000194900.4	+	11	1826	c.1485A>T	c.(1483-1485)atA>atT	p.I495I	DLG3_ENST00000542398.1_5'UTR|DLG3_ENST00000374360.3_Silent_p.I477I|DLG3_ENST00000374355.3_Silent_p.I140I			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	477					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AATCGAAGATACATGACTTAC	0.483													37	112					0	0	0	0	T	69699025	A	T	69699025	2	4	100	1	0	0	0	0	0	0	0	1	4593	381	14	5		5	DLG3	23	69699025	Silent	SNP	A	TCGA-CN-6021-01A-11D-1683-08	16584868	69699025	85571535	283	19401											
MAGEE1	57692	broad.mit.edu	37	chrX	75648802	75648802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccgcctctgaggtacCgagcacctccctgccgccca	6	5	9	21	3	1	1	0	1	1	0	2	2	2	1	8	1	3	2	8	1	1	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:75648802C>T	ENST00000361470.2	+	1	757	c.479C>T	c.(478-480)cCg>cTg	p.P160L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	160	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TCTGAGGTACCGAGCACCTCC	0.682													12	46					0	0	0	0	T	75648802	C	T	75648802	3	4	100	1	0	0	0	0	1	0	0	0	9254	652	23	1	481	1	MAGEE1	23	75648802	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	5949777	75648802	79621758	284	19402											
TBX22	50945	broad.mit.edu	37	chrX	79286015	79286015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtggaagcagtggctcatCtccagtgacctctagtggag	9	9	14	9	0	3	1	1	1	2	0	4	3	3	3	2	4	1	2	2	4	2	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:79286015C>T	ENST00000442340.1	+	9	1098	c.608C>T	c.(607-609)tCt>tTt	p.S203F	TBX22_ENST00000373291.1_Missense_Mutation_p.S203F|TBX22_ENST00000373294.5_Missense_Mutation_p.S323F|TBX22_ENST00000373296.3_Missense_Mutation_p.S323F	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	323					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTGGCTCATCTCCAGTGACC	0.428													33	64					0	0	0	0	T	79286015	C	T	79286015	3	4	100	1	0	0	0	0	1	0	0	0	15752	913	32	2	998	2	TBX22	23	79286015	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	3637213	79286015	75984545	285	19403											
FAM46D	169966	broad.mit.edu	37	chrX	79698469	79698469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaatgggcatgattgttGgagtcttatctccctttcaa	8	16	9	8	0	3	1	1	1	2	0	4	2	3	2	1	2	1	3	1	2	3	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:79698469G>T	ENST00000538312.1	+	5	765	c.431G>T	c.(430-432)tGg>tTg	p.W144L	FAM46D_ENST00000308293.5_Missense_Mutation_p.W144L	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	144										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						CATGATTGTTGGAGTCTTATC	0.368													48	100					2.6238e-40	3.86985e-40	1	0	T	79698469	G	T	79698469	3	4	100	1	0	0	0	0	1	0	0	0	5615	1357	47	4	433	4	FAM46D	23	79698469	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	412454	79698469	75572091	286	19404											
BRWD3	254065	broad.mit.edu	37	chrX	79947378	79947378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttcacattcttcgtctctgGaatgagccccccactctcct	6	13	6	16	1	4	1	1	1	3	0	7	2	4	2	4	1	1	1	4	1	1	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:79947378G>A	ENST00000373275.4	-	30	3641	c.3425C>T	c.(3424-3426)tCc>tTc	p.S1142F	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1142										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCGTCTCTGGAATGAGCCCC	0.478													11	26					0	0	0	0	A	79947378	G	A	79947378	3	1	100	1	0	0	0	0	1	0	0	0	1534	1174	41	2	2031	2	BRWD3	23	79947378	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	248909	79947378	75323182	287	19405											
SH3BGRL	6451	broad.mit.edu	37	chrX	80532534	80532534	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctagaagccaacaaaataGgatttgaagaaaaagatatt	20	9	7	5	0	0	4	0	1	0	3	1	5	1	5	2	1	2	0	2	1	10	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:80532534G>T	ENST00000373212.5	+	2	355	c.97G>T	c.(97-99)Gga>Tga	p.G33*	SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamic acid-rich protein like	33						cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				CAACAAAATAGGATTTGAAGA	0.398													11	40					6.81908e-15	8.86016e-15	1	0	T	80532534	G	T	80532534	4	4	100	1	0	0	0	0	0	1	0	0	14328	1001	35	4	103	4	SH3BGRL	23	80532534	Nonsense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	585156	80532534	74738026	288	19406											
DACH2	117154	broad.mit.edu	37	chrX	85404039	85404039	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgggctgggggccatccagCccggggtaaaccgctgcaaa	8	4	16	13	3	0	0	0	0	0	0	1	0	1	0	4	5	3	4	4	5	3	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:85404039C>G	ENST00000373131.1	+	1	578	c.415C>G	c.(415-417)Ccc>Gcc	p.P139A	DACH2_ENST00000373125.4_Missense_Mutation_p.P139A	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	139	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGCCATCCAGCCCGGGGTAAA	0.557													13	47					0	0	0	0	G	85404039	C	G	85404039	3	3	100	1	0	0	0	0	1	0	0	0	4254	739	26	4	417	4	DACH2	23	85404039	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	4871505	85404039	69866521	289	19407											
DACH2	117154	broad.mit.edu	37	chrX	85994870	85994870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctctcagatggatcatCatttggaaagaatgggtgag	11	11	11	8	0	3	3	3	1	1	2	5	5	4	5	1	3	0	0	1	3	2	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:85994870C>A	ENST00000373131.1	+	6	1349	c.1186C>A	c.(1186-1188)Cat>Aat	p.H396N	DACH2_ENST00000373125.4_Missense_Mutation_p.H409N|DACH2_ENST00000510272.1_Missense_Mutation_p.H190N|DACH2_ENST00000508860.1_Missense_Mutation_p.H242N|DACH2_ENST00000477378.2_3'UTR	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GATGGATCATCATTTGGAAAG	0.443													5	12					3.59834e-05	3.85032e-05	1	0	A	85994870	C	A	85994870	3	1	100	1	0	0	0	0	1	0	0	0	4254	826	29	2	1251	2	DACH2	23	85994870	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	590831	85994870	69275690	290	19408											
DACH2	117154	broad.mit.edu	37	chrX	86067962	86067962	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctggaccattcattttTgctgatagtctgtcctccgt	5	17	7	12	1	2	1	1	1	1	0	5	2	5	2	4	1	1	1	4	1	1	5			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:86067962T>G	ENST00000373131.1	+	7	1468	c.1305T>G	c.(1303-1305)ttT>ttG	p.F435L	DACH2_ENST00000373125.4_Missense_Mutation_p.F448L|DACH2_ENST00000510272.1_Missense_Mutation_p.F229L|DACH2_ENST00000508860.1_Missense_Mutation_p.F281L|DACH2_ENST00000477378.2_3'UTR	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CATTCATTTTTGCTGATAGTC	0.423													8	15					0	0	0	0	G	86067962	T	G	86067962	3	3	100	1	0	0	0	0	1	0	0	0	4254	1809	63	5	1374	5	DACH2	23	86067962	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	73092	86067962	69202598	291	19409											
NAP1L3	4675	broad.mit.edu	37	chrX	92928013	92928013	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcctgaggcagcctatcCacgaaatttgttcccaacgg	10	9	9	13	2	0	1	0	1	0	0	2	2	2	1	4	2	3	2	4	2	3	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:92928013C>T	ENST00000373079.3	-	1	554	c.291G>A	c.(289-291)gtG>gtA	p.V97V	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	97					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GCAGCCTATCCACGAAATTTG	0.517													13	26					0	0	0	0	T	92928013	C	T	92928013	2	4	100	1	0	0	0	0	0	0	0	1	10228	581	21	4		4	NAP1L3	23	92928013	Silent	SNP	C	TCGA-CN-6021-01A-11D-1683-08	6860051	92928013	62342547	292	19410											
DIAPH2	1730	broad.mit.edu	37	chrX	96220178	96220178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagatctctttgccaaattGgcattgaattttgctactca	10	15	6	10	0	2	2	1	1	1	1	3	2	2	2	2	1	3	2	2	1	3	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:96220178G>T	ENST00000324765.8	+	17	2369	c.2022G>T	c.(2020-2022)ttG>ttT	p.L674F	DIAPH2_ENST00000373049.4_Missense_Mutation_p.L674F|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L674F|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L670F|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L674F			O60879	DIAP2_HUMAN	diaphanous-related formin 2	674	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTGCCAAATTGGCATTGAATT	0.303													9	26					0.000274275	0.000286265	1	0	T	96220178	G	T	96220178	3	4	100	1	0	0	0	0	1	0	0	0	4556	1339	47	4	2088	4	DIAPH2	23	96220178	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	3292165	96220178	59050382	293	19411											
DRP2	1821	broad.mit.edu	37	chrX	100486665	100486665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggtcatgcagggatgccCttacaccctcccacgatgtc	8	10	9	14	1	1	0	1	0	0	0	3	2	2	1	3	2	3	1	3	2	2	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:100486665C>T	ENST00000395209.3	+	3	556	c.29C>T	c.(28-30)cCt>cTt	p.P10L	DRP2_ENST00000541709.1_Intron|DRP2_ENST00000402866.1_Missense_Mutation_p.P10L|DRP2_ENST00000538510.1_Missense_Mutation_p.P10L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	10					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAGGGATGCCCTTACACCCTC	0.537													50	125					0	0	0	0	T	100486665	C	T	100486665	3	4	100	1	0	0	0	0	1	0	0	0	4800	681	24	4	31	4	DRP2	23	100486665	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	4266487	100486665	54783895	294	19412											
ARMCX2	9823	broad.mit.edu	37	chrX	100911056	100911056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttgcaatggaattgaCaagcaggtgctggtagtcat	13	11	12	5	0	1	1	1	1	0	0	1	2	1	2	0	3	3	5	0	3	5	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:100911056C>G	ENST00000328766.5	-	5	1972	c.1519G>C	c.(1519-1521)Gtc>Ctc	p.V507L	ARMCX2_ENST00000330154.2_Missense_Mutation_p.V507L|ARMCX2_ENST00000356824.4_Missense_Mutation_p.V507L	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	507						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						ATGGAATTGACAAGCAGGTGC	0.378													13	186					0	0	0	0	G	100911056	C	G	100911056	3	3	100	1	0	0	0	0	1	0	0	0	964	478	17	4	383	4	ARMCX2	23	100911056	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	424391	100911056	54359504	295	19413											
MID2	11043	broad.mit.edu	37	chrX	107169922	107169922	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgcaattggcattgcctaCaaatcagctccaaagaatga	15	10	7	9	0	1	2	1	1	0	1	2	2	2	2	2	1	4	3	2	1	6	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:107169922C>A	ENST00000262843.6	+	10	2375	c.1827C>A	c.(1825-1827)taC>taA	p.Y609*	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Nonsense_Mutation_p.Y579*	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	609	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding	p.Y589*(1)|p.Y609*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GCATTGCCTACAAATCAGCTC	0.393													21	72					6.21321e-17	8.29877e-17	1	0	A	107169922	C	A	107169922	4	1	100	1	0	0	0	0	0	1	0	0	9647	489	17	4	1865	4	MID2	23	107169922	Nonsense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	6258866	107169922	48100638	296	19414											
COL4A5	1287	broad.mit.edu	37	chrX	107802347	107802347	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggattgcctggatttccAggtccagaagggcctccggg	7	8	14	12	1	0	1	0	0	0	1	3	3	3	3	6	5	1	0	6	5	1	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:107802347A>C	ENST00000328300.6	+	3	439	c.195A>C	c.(193-195)ccA>ccC	p.P65P	COL4A5_ENST00000361603.2_Silent_p.P65P	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	65	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTGGATTTCCAGGTCCAGAAG	0.463									Alport syndrome with Diffuse Leiomyomatosis				21	89					0	0	0	0	C	107802347	A	C	107802347	2	2	100	1	0	0	0	0	0	0	0	1	3724	175	7	5		5	COL4A5	23	107802347	Silent	SNP	A	TCGA-CN-6021-01A-11D-1683-08	632425	107802347	47468213	297	19415											
KLHL13	90293	broad.mit.edu	37	chrX	117079426	117079426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagaactgtgggtattgcTggtaaagatgcgtgtaggtc	10	11	14	6	1	0	2	0	0	0	2	1	2	0	2	0	3	3	4	0	3	5	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:117079426T>C	ENST00000371876.1	-	1	2479	c.58A>G	c.(58-60)Agc>Ggc	p.S20G	KLHL13_ENST00000371878.1_Missense_Mutation_p.S20G|KLHL13_ENST00000371882.1_Missense_Mutation_p.S20G|KLHL13_ENST00000541812.1_Missense_Mutation_p.S55G|KLHL13_ENST00000469946.1_Missense_Mutation_p.S20G|KLHL13_ENST00000540167.1_Missense_Mutation_p.S55G|KLHL13_ENST00000539496.1_Missense_Mutation_p.S74G|KLHL13_ENST00000545703.1_Missense_Mutation_p.S29G|KLHL13_ENST00000262820.3_Missense_Mutation_p.S71G			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	71				L -> P (in Ref. 3; BAG54189).	cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGGGTATTGCTGGTAAAGATG	0.458													24	64					0	0	0	0	C	117079426	T	C	117079426	3	2	100	1	0	0	0	0	1	0	0	0	8421	1580	55	5	1780	5	KLHL13	23	117079426	Missense_Mutation	SNP	T	TCGA-CN-6021-01A-11D-1683-08	9277079	117079426	38191134	298	19416											
DOCK11	139818	broad.mit.edu	37	chrX	117788710	117788710	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccaagtcctatgcaagcaCcccagagctcaggaaaacct	14	5	8	14	0	1	1	1	0	0	1	2	2	2	2	5	1	5	3	5	1	5	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:117788710C>G	ENST00000276204.6	+	43	4915	c.4841C>G	c.(4840-4842)aCc>aGc	p.T1614S	DOCK11_ENST00000276202.7_Missense_Mutation_p.T1614S			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1614	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATGCAAGCACCCCAGAGCTC	0.433													31	80					0	0	0	0	G	117788710	C	G	117788710	3	3	100	1	0	0	0	0	1	0	0	0	4722	507	18	4	5011	4	DOCK11	23	117788710	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	709284	117788710	37481850	299	19417											
KIAA1210	57481	broad.mit.edu	37	chrX	118221772	118221772	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcctcaatagcagcccGctcgaaatttgaggacagtt	10	10	10	11	2	2	1	1	1	1	0	3	3	2	2	2	1	3	3	2	1	3	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:118221772G>T	ENST00000402510.2	-	11	3420	c.3421C>A	c.(3421-3423)Cgg>Agg	p.R1141R		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1141										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATAGCAGCCCGCTCGAAATTT	0.468													19	78					2.37509e-13	3.04458e-13	1	0	T	118221772	G	T	118221772	2	4	100	1	0	0	0	0	0	0	0	1	8265	1086	38	3		3	KIAA1210	23	118221772	Silent	SNP	G	TCGA-CN-6021-01A-11D-1683-08	433062	118221772	37048788	300	19418											
NKAP	79576	broad.mit.edu	37	chrX	119077487	119077487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagatttgctgggcttcgGactcttcgacgaactgcgac	7	10	13	11	4	1	1	0	0	1	1	3	5	1	2	0	3	3	3	0	3	1	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:119077487G>T	ENST00000371410.3	-	1	248	c.82C>A	c.(82-84)Ccg>Acg	p.P28T		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	28	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CTGGGCTTCGGACTCTTCGAC	0.701													19	39					6.44725e-10	7.79383e-10	1	0	T	119077487	G	T	119077487	3	4	100	1	0	0	0	0	1	0	0	0	10509	1174	41	2	1201	2	NKAP	23	119077487	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	855715	119077487	36193073	301	19419											
THOC2	57187	broad.mit.edu	37	chrX	122866840	122866840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccagttctttatccaCtctgcgggaaccaccacagc	8	11	6	16	1	3	0	0	0	3	0	5	1	4	1	4	1	3	1	4	1	2	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:122866840C>A	ENST00000245838.8	-	1	64	c.33G>T	c.(31-33)gaG>gaT	p.E11D	THOC2_ENST00000355725.4_Missense_Mutation_p.E11D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	11					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCTTTATCCACTCTGCGGGAA	0.637											OREG0003978|OREG0003979	type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	54					5.03518e-11	6.22473e-11	1	0	A	122866840	C	A	122866840	3	1	100	1	0	0	0	0	1	0	0	0	15959	564	20	4	4900	4	THOC2	23	122866840	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	3789353	122866840	32403720	302	19420											
XPNPEP2	7512	broad.mit.edu	37	chrX	128896688	128896688	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacctggttactataaggAtggagaatttgggatccgtc	12	11	12	6	1	0	2	0	0	0	2	2	5	1	4	2	4	2	1	2	4	5	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:128896688A>T	ENST00000371106.3	+	19	1874	c.1682A>T	c.(1681-1683)gAt>gTt	p.D561V		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	561					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TACTATAAGGATGGAGAATTT	0.542													19	44					0	0	0	0	T	128896688	A	T	128896688	3	4	100	1	0	0	0	0	1	0	0	0	17539	333	12	5	1756	5	XPNPEP2	23	128896688	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	6029848	128896688	26373872	303	19421											
UTP14A	10813	broad.mit.edu	37	chrX	129053151	129053151	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttttgttgcttctttaagGcaagaactcccctggagcag	8	14	10	9	0	1	1	0	0	1	1	2	2	2	2	2	2	3	5	2	2	3	6			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:129053151G>T	ENST00000394422.3	+	7	566	c.537_splice	c.e7-1	p.A180_splice	UTP14A_ENST00000371042.3_Splice_Site_p.A12_splice|UTP14A_ENST00000371051.5_Splice_Site_p.A126_splice|UTP14A_ENST00000425117.2_Splice_Site_p.A128_splice|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	180					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CTTCTTTAAGGCAAGAACTCC	0.433													29	79					3.69857e-22	5.19431e-22	1	0	T	129053151	G	T	129053151	5	4	100	1	0	0	0	0	0	0	1	0	17191	1217	42	4	564	4	UTP14A	23	129053151	Splice_Site	SNP	G	TCGA-CN-6021-01A-11D-1683-08	156463	129053151	26217409	304	19422											
GPR119	139760	broad.mit.edu	37	chrX	129518602	129518602	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatagatgagtgggttgaGcagggagttgcccacgccga	9	7	17	8	2	0	3	0	2	0	1	0	5	0	4	2	3	2	4	2	3	1	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:129518602G>C	ENST00000276218.2	-	1	909	c.820C>G	c.(820-822)Ctc>Gtc	p.L274V		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	274						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGTGGGTTGAGCAGGGAGTTG	0.567													31	64					0	0	0	0	C	129518602	G	C	129518602	3	2	100	1	0	0	0	0	1	0	0	0	6683	971	34	4	191	4	GPR119	23	129518602	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	465451	129518602	25751958	305	19423											
TFDP3	51270	broad.mit.edu	37	chrX	132351548	132351548	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggatgactgagttgggcAgcggccgctggctgacctgc	5	8	17	11	3	0	3	0	3	0	0	0	4	0	4	2	4	2	4	2	4	0	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:132351548A>T	ENST00000310125.4	-	1	828	c.740T>A	c.(739-741)cTg>cAg	p.L247Q		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	247	Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TGAGTTGGGCAGCGGCCGCTG	0.478													41	135					0	0	0	0	T	132351548	A	T	132351548	3	4	100	1	0	0	0	0	1	0	0	0	15893	188	7	5	481	5	TFDP3	23	132351548	Missense_Mutation	SNP	A	TCGA-CN-6021-01A-11D-1683-08	2832946	132351548	22919012	306	19424											
FHL1	2273	broad.mit.edu	37	chrX	135291444	135291444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccacccagtctctaaagCtaggaagcccccagtgtgcc	10	6	10	15	0	1	0	0	0	1	0	2	2	1	1	5	1	4	1	5	1	4	2			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:135291444C>A	ENST00000394155.2	+	7	1060	c.731C>A	c.(730-732)gCt>gAt	p.A244D	FHL1_ENST00000535737.1_Intron|FHL1_ENST00000370683.1_Intron|FHL1_ENST00000370690.3_Intron|FHL1_ENST00000345434.3_Missense_Mutation_p.A244D|FHL1_ENST00000543669.1_Intron|FHL1_ENST00000370676.3_Intron|FHL1_ENST00000539015.1_Intron|FHL1_ENST00000394153.2_Intron	NM_001159702.2	NP_001153174.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	244					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GTCTCTAAAGCTAGGAAGCCC	0.572											OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	41					0.000442599	0.000460689	1	0	A	135291444	C	A	135291444	3	1	100	1	0	0	0	0	1	0	0	0	5923	797	28	4	866	4	FHL1	23	135291444	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	2939896	135291444	19979116	307	19425											
GPR112	139378	broad.mit.edu	37	chrX	135453552	135453552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatccccagccctgggtaaaGaagagacaaagattattgtt	15	9	9	8	0	0	3	0	0	0	3	1	4	1	3	3	1	1	2	3	1	6	4			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:135453552G>C	ENST00000394143.1	+	14	7753	c.7462G>C	c.(7462-7464)Gaa>Caa	p.E2488Q	GPR112_ENST00000394141.1_Missense_Mutation_p.E2283Q|GPR112_ENST00000370652.1_Missense_Mutation_p.E2488Q|GPR112_ENST00000412101.1_Missense_Mutation_p.E2283Q|GPR112_ENST00000287534.4_Missense_Mutation_p.E2286Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2488					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTGGGTAAAGAAGAGACAAA	0.338													12	32					0	0	0	0	C	135453552	G	C	135453552	3	2	100	1	0	0	0	0	1	0	0	0	6678	943	33	2	7504	2	GPR112	23	135453552	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	162108	135453552	19817008	308	19426											
PASD1	139135	broad.mit.edu	37	chrX	150789407	150789407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctctcctgccaggctgaGattgtgggcaaaaaattatt	10	12	9	10	0	1	1	0	1	1	1	3	2	2	1	3	2	1	2	3	2	4	3			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:150789407G>C	ENST00000370357.4	+	5	458	c.213G>C	c.(211-213)gaG>gaC	p.E71D		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	71	PAS.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGGCTGAGATTGTGGGCA	0.408													27	84					0	0	0	0	C	150789407	G	C	150789407	3	2	100	1	0	0	0	0	1	0	0	0	11542	933	33	2	227	2	PASD1	23	150789407	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	15335855	150789407	4481153	309	19427											
ATP2B3	492	broad.mit.edu	37	chrX	152814263	152814263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctggtcgtggctgtccCagagggcctgcctcttgctg	2	12	15	12	1	1	1	0	0	1	1	3	1	2	1	3	3	3	3	3	3	0	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:152814263C>A	ENST00000370186.1	+	8	1573	c.1247C>A	c.(1246-1248)cCa>cAa	p.P416Q	ATP2B3_ENST00000393842.1_Missense_Mutation_p.P416Q|ATP2B3_ENST00000370181.2_Missense_Mutation_p.P416Q|ATP2B3_ENST00000359149.3_Missense_Mutation_p.P430Q|ATP2B3_ENST00000263519.4_Missense_Mutation_p.P430Q|ATP2B3_ENST00000349466.2_Missense_Mutation_p.P430Q			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	430					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCTGTCCCAGAGGGCCTG	0.502													11	50					6.40141e-05	6.81153e-05	1	0	A	152814263	C	A	152814263	3	1	100	1	0	0	0	0	1	0	0	0	1145	594	21	4	1319	4	ATP2B3	23	152814263	Missense_Mutation	SNP	C	TCGA-CN-6021-01A-11D-1683-08	2024856	152814263	2456297	310	19428											
DKC1	1736	broad.mit.edu	37	chrX	153994589	153994589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggagaagacagggcacaGtggtacgctggatcccaagg	11	5	17	8	1	0	2	0	0	0	2	1	4	1	3	1	6	1	3	1	6	3	1			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:153994589G>T	ENST00000369550.5	+	5	572	c.362G>T	c.(361-363)aGt>aTt	p.S121I		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	121			S -> G (in HHS; dbSNP:rs121912305).		cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAGGGCACAGTGGTACGCTG	0.522									Congenital Dyskeratosis				24	58					7.87624e-14	1.01646e-13	1	0	T	153994589	G	T	153994589	3	4	100	1	0	0	0	0	1	0	0	0	4579	1029	36	4	380	4	DKC1	23	153994589	Missense_Mutation	SNP	G	TCGA-CN-6021-01A-11D-1683-08	1180326	153994589	1275971	311	19429											
MRPS15	64960	broad.mit.edu	37	chr1	36926866	36926866	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggcagaggctgctcaccTtgttggccatttccaaagac	8	11	10	12	0	1	2	1	0	0	2	2	2	2	2	3	3	1	4	3	3	1	4			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:36926866T>C	ENST00000373116.5	-	4	460	c.300_splice	c.e4+1	p.K100_splice		NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	100					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGCTCACCTTGTTGGCCAT	0.527													17	32					0	0	0	0	C	36926866	T	C	36926866	5	2	101	1	0	0	0	0	0	0	1	0	9895	1623	56	5	494	5	MRPS15	1	36926866	Splice_Site	SNP	T	TCGA-CN-6022-01A-21D-1683-08		36926866	212323755	1	19430											
EPHA10	284656	broad.mit.edu	37	chr1	38187398	38187398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcccagcgtgagggcctCggccaggaagccgagcctct	6	5	15	15	3	1	1	0	1	1	0	2	3	1	2	5	4	3	0	5	4	1	0			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:38187398C>T	ENST00000373048.4	-	11	2079	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.E694K|EPHA10_ENST00000330210.7_Missense_Mutation_p.E189K|EPHA10_ENST00000540011.1_3'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	694	Protein kinase.					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)				GTGAGGGCCTCGGCCAGGAAG	0.672													5	24					0	0	0	0	T	38187398	C	T	38187398	3	4	101	1	0	0	0	0	1	0	0	0	5204	893	31	1	974	1	EPHA10	1	38187398	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	1260532	38187398	211063223	2	19431											
RRAGC	64121	broad.mit.edu	37	chr1	39317431	39317431	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttttcaatacctgaattcTtggaaaaacaaatgggaaac	16	12	6	7	0	2	1	1	1	1	0	2	3	2	3	1	2	3	0	1	2	7	5			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:39317431T>C	ENST00000373001.3	-	5	933		c.e5-2			NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C						apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				ACCTGAATTCTTGGAAAAACA	0.323													16	66					0	0	0	0	C	39317431	T	C	39317431	5	2	101	1	0	0	0	0	0	0	1	0	13759	1623	56	5	456	5	RRAGC	1	39317431	Splice_Site	SNP	T	TCGA-CN-6022-01A-21D-1683-08	1130033	39317431	209933190	3	19432											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77510198	77510198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtctacaacaacctgcatCtcctgagccaggtgctgccc	9	8	9	15	0	2	1	0	1	2	0	3	1	2	1	4	2	7	2	4	2	3	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:77510198C>T	ENST00000477717.1	+	3	806	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	191					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CAACCTGCATCTCCTGAGCCA	0.587													27	187					0	0	0	0	T	77510198	C	T	77510198	3	4	101	1	0	0	0	0	1	0	0	0	15317	913	32	2	581	2	ST6GALNAC5	1	77510198	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	38192767	77510198	171740423	4	19433											
CCDC18	343099	broad.mit.edu	37	chr1	93691976	93691976	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaataaggaaaagttTgaaaaacagttaaagaagaa	24	6	10	1	0	0	3	0	1	0	2	0	6	0	5	0	2	1	2	0	2	11	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:93691976T>G	ENST00000343253.7	+	17	2761	c.2259T>G	c.(2257-2259)ttT>ttG	p.F753L	CCDC18_ENST00000338949.4_Missense_Mutation_p.F509L|CCDC18_ENST00000557479.1_Missense_Mutation_p.F872L|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.F754L|CCDC18_ENST00000334652.5_Missense_Mutation_p.F49L			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	753										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AGGAAAAGTTTGAAAAACAGT	0.294													5	51					0	0	0	0	G	93691976	T	G	93691976	3	3	101	1	0	0	0	0	1	0	0	0	2820	1809	63	5	2682	5	CCDC18	1	93691976	Missense_Mutation	SNP	T	TCGA-CN-6022-01A-21D-1683-08	16181778	93691976	155558645	5	19434											
FCRLA	84824	broad.mit.edu	37	chr1	161681071	161681071	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttctgcgctgccaggcctgGcaagactggccactgactca	7	8	12	14	1	2	2	1	1	1	1	2	2	2	2	3	3	2	3	3	3	1	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:161681071G>C	ENST00000367959.2	+	4	617	c.375G>C	c.(373-375)tgG>tgC	p.W125C	FCRLA_ENST00000349527.4_Missense_Mutation_p.W102C|FCRLA_ENST00000236938.6_Missense_Mutation_p.W119C|FCRLA_ENST00000367953.3_Missense_Mutation_p.W108C|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.W108C|FCRLA_ENST00000540521.1_Intron	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	102	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GCCAGGCCTGGCAAGACTGGC	0.577													6	49					0	0	0	0	C	161681071	G	C	161681071	3	2	101	1	0	0	0	0	1	0	0	0	5845	1212	42	4	389	4	FCRLA	1	161681071	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	67989095	161681071	87569550	6	19435											
PTPRC	5788	broad.mit.edu	37	chr1	198713307	198713307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggatccacccagtgagcCgtctccactagaggctgaat	11	7	11	12	1	1	3	0	2	1	1	3	4	2	4	4	2	1	1	4	2	3	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:198713307C>T	ENST00000367376.2	+	26	2987	c.2816C>T	c.(2815-2817)cCg>cTg	p.P939L	PTPRC_ENST00000352140.3_Missense_Mutation_p.P891L|PTPRC_ENST00000594404.1_Missense_Mutation_p.P778L|PTPRC_ENST00000442510.2_Missense_Mutation_p.P941L|PTPRC_ENST00000348564.6_Missense_Mutation_p.P780L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	939					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCCAGTGAGCCGTCTCCACTA	0.368													5	31					0	0	0	0	T	198713307	C	T	198713307	3	4	101	1	0	0	0	0	1	0	0	0	12879	652	23	1	2925	1	PTPRC	1	198713307	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	37032236	198713307	50537314	7	19436											
FMN2	56776	broad.mit.edu	37	chr1	240601464	240601464	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcatgaattcagctctgacTttaaagacttctggaagaaa	14	11	9	7	0	3	4	1	2	2	2	3	5	3	5	0	2	1	2	0	2	5	4			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:240601464T>A	ENST00000319653.9	+	16	5244	c.5014T>A	c.(5014-5016)Ttt>Att	p.F1672I	FMN2_ENST00000545751.1_Missense_Mutation_p.F268I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1672	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGCTCTGACTTTAAAGACTT	0.383													15	117					0	0	0	0	A	240601464	T	A	240601464	3	1	101	1	0	0	0	0	1	0	0	0	5995	1609	56	5	5076	5	FMN2	1	240601464	Missense_Mutation	SNP	T	TCGA-CN-6022-01A-21D-1683-08	41888157	240601464	8649157	8	19437											
OR2AK2	391191	broad.mit.edu	37	chr1	248129300	248129300	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagtggacttattatcttgCtactaccattcctagccatt	9	16	6	10	0	1	1	0	1	1	0	2	2	2	2	3	1	4	1	3	1	5	8			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:248129300C>G	ENST00000366480.3	+	1	766	c.667C>G	c.(667-669)Cta>Gta	p.L223V	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TATTATCTTGCTACTACCATT	0.448													9	18					0	0	0	0	G	248129300	C	G	248129300	3	3	101	1	0	0	0	0	1	0	0	0	11057	796	28	4	669	4	OR2AK2	1	248129300	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	7527836	248129300	1121321	9	19438											
NCOA1	8648	broad.mit.edu	37	chr2	24929930	24929930	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctgtaataataataacCgatcttattcaaacatccca	15	12	4	10	1	2	0	1	0	1	0	3	1	3	0	3	0	3	1	3	0	6	6			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr2:24929930C>A	ENST00000405141.1	+	14	2302	c.1591C>A	c.(1591-1593)Cga>Aga	p.R531R	NCOA1_ENST00000348332.3_Silent_p.R531R|NCOA1_ENST00000288599.5_Silent_p.R531R|NCOA1_ENST00000407230.1_Silent_p.R380R|NCOA1_ENST00000395856.3_Silent_p.R531R|NCOA1_ENST00000538539.1_Silent_p.R531R|NCOA1_ENST00000406961.1_Silent_p.R531R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	531	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATAATAACCGATCTTATTC	0.443			T	PAX3	alveolar rhadomyosarcoma								16	83					2.23348e-06	2.51267e-06	1	0	A	24929930	C	A	24929930	2	1	101	1	0	0	0	0	0	0	0	1	10298	644	23	3		3	NCOA1	2	24929930	Silent	SNP	C	TCGA-CN-6022-01A-21D-1683-08		24929930	218269443	10	19439											
SPTBN1	6711	broad.mit.edu	37	chr2	54849492	54849492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaaaagtatgaatcacttgCctctgaccttctggaatgga	12	12	9	8	0	3	3	1	3	2	0	3	5	3	5	2	2	1	1	2	2	5	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr2:54849492C>T	ENST00000333896.5	+	8	1278	c.893C>T	c.(892-894)gCc>gTc	p.A298V	SPTBN1_ENST00000356805.4_Missense_Mutation_p.A311V	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	311					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAATCACTTGCCTCTGACCTT	0.398													10	91					0	0	0	0	T	54849492	C	T	54849492	3	4	101	1	0	0	0	0	1	0	0	0	15209	739	26	4	1075	4	SPTBN1	2	54849492	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	29919562	54849492	188349881	11	19440											
RANBP2	5903	broad.mit.edu	37	chr2	109383270	109383270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatcattggataacgactaCgatgaacctgaagcctctct	13	11	7	10	2	2	2	1	2	1	0	3	5	2	3	2	1	4	0	2	1	5	4			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr2:109383270C>T	ENST00000283195.6	+	20	6401	c.6275C>T	c.(6274-6276)aCg>aTg	p.T2092M		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2092	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATAACGACTACGATGAACCTG	0.413													62	360					0	0	0	0	T	109383270	C	T	109383270	3	4	101	1	0	0	0	0	1	0	0	0	13110	536	19	1	6353	1	RANBP2	2	109383270	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	54533778	109383270	133816103	12	19441											
SLC38A3	10991	broad.mit.edu	37	chr3	50255845	50255845	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcctaggctaggctggggGgaaggggctggttgtggcca	6	7	21	7	0	0	0	0	0	0	0	0	1	0	1	2	10	0	4	2	10	3	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr3:50255845G>T	ENST00000420502.1	+	0	1189							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	TAGGCTGGGGGGAAGGGGCTG	0.622													16	20					3.35478e-16	4.11722e-16	1	0	T	50255845	G	T	50255845	1	4	101	0	1	0	0	0	0	0	0	0	14693	1247	43	4		4	SLC38A3	3	50255845	RNA	SNP	G	TCGA-CN-6022-01A-21D-1683-08		50255845	147766585	13	19442											
ZNF80	7634	broad.mit.edu	37	chr3	113955725	113955725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgtgaatctgctgatgtCgaacaaggaggctgtttttg	9	13	13	6	1	1	2	0	2	1	0	2	4	1	3	0	2	2	3	0	2	3	2			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr3:113955725C>T	ENST00000482457.2	-	1	700	c.197G>A	c.(196-198)cGa>cAa	p.R66Q		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	66						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CTGCTGATGTCGAACAAGGAG	0.488													4	30					0	0	0	0	T	113955725	C	T	113955725	3	4	101	1	0	0	0	0	1	0	0	0	18261	884	31	1	628	1	ZNF80	3	113955725	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	63699880	113955725	84066705	14	19443											
PLXND1	23129	broad.mit.edu	37	chr3	129278515	129278515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcggagattcccctcttctCagcctgctcctccaggaagt	6	11	9	15	1	2	1	1	0	2	1	7	3	5	2	5	2	2	1	5	2	1	2			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr3:129278515C>T	ENST00000393239.1	-	32	5423	c.5245G>A	c.(5245-5247)Gag>Aag	p.E1749K	PLXND1_ENST00000324093.4_Missense_Mutation_p.E1749K			Q9Y4D7	PLXD1_HUMAN	plexin D1	1749					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCCCTCTTCTCAGCCTGCTCC	0.582													41	133					0	0	0	0	T	129278515	C	T	129278515	3	4	101	1	0	0	0	0	1	0	0	0	12199	835	29	2	552	2	PLXND1	3	129278515	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	15322790	129278515	68743915	15	19444											
LAMP3	27074	broad.mit.edu	37	chr3	182841888	182841888	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attagattctctggtatccaGatgattgacaccttaggcgg	10	13	10	8	1	1	4	0	2	1	2	3	4	2	4	2	3	0	1	2	3	3	5			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr3:182841888G>C	ENST00000265598.3	-	6	1487	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	LAMP3_ENST00000466939.1_Missense_Mutation_p.S387C	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	411					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CTGGTATCCAGATGATTGACA	0.453													34	62					0	0	0	0	C	182841888	G	C	182841888	3	2	101	1	0	0	0	0	1	0	0	0	8672	942	33	2	22	2	LAMP3	3	182841888	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	53563373	182841888	15180542	16	19445											
CPN2	1370	broad.mit.edu	37	chr3	194063384	194063384	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacagggctgggcaggcctGgccaggagcaggagggaggt	8	3	22	8	0	0	0	0	0	0	0	0	4	0	4	2	9	1	3	2	9	0	0			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr3:194063384G>A	ENST00000323830.3	-	2	137	c.48C>T	c.(46-48)gcC>gcT	p.A16A	CPN2_ENST00000429275.1_Silent_p.A16A	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	16					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGGCAGGCCTGGCCAGGAGCA	0.592													6	68					0	0	0	0	A	194063384	G	A	194063384	2	1	101	1	0	0	0	0	0	0	0	1	3840	1335	47	4		4	CPN2	3	194063384	Silent	SNP	G	TCGA-CN-6022-01A-21D-1683-08	11221496	194063384	3959046	17	19446											
SLC26A1	10861	broad.mit.edu	37	chr4	982693	982693	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcacggcatcgtgcacactGaggaacagctgctcctcctc	8	8	10	15	2	0	1	0	1	0	0	4	2	2	2	2	2	5	5	2	2	1	0			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr4:982693G>A	ENST00000361661.2	-	4	2411	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	SLC26A1_ENST00000398516.2_Silent_p.L678L|IDUA_ENST00000247933.4_Intron|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000509744.1_Intron|SLC26A1_ENST00000398520.2_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	678	STAS.					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGTGCACACTGAGGAACAGCT	0.672													4	15					0	0	0	0	A	982693	G	A	982693	2	1	101	1	0	0	0	0	0	0	0	1	14602	1277	45	2		2	SLC26A1	4	982693	Silent	SNP	G	TCGA-CN-6022-01A-21D-1683-08		982693	190171583	18	19447											
RGS12	6002	broad.mit.edu	37	chr4	3432594	3432594	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgtggccgagctgaccctGatgggggagggggacatcag	8	5	18	10	2	1	2	1	2	0	0	1	5	1	4	2	5	1	1	2	5	0	0			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr4:3432594G>A	ENST00000336727.3	+	17	4930	c.4026G>A	c.(4024-4026)ctG>ctA	p.L1342L	RGS12_ENST00000382788.3_Silent_p.L1342L|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000344733.5_Silent_p.L1342L|RGS12_ENST00000338806.4_Silent_p.L694L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1342						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCTGACCCTGATGGGGGAGG	0.672													7	56					0	0	0	0	A	3432594	G	A	3432594	2	1	101	1	0	0	0	0	0	0	0	1	13378	1277	45	2		2	RGS12	4	3432594	Silent	SNP	G	TCGA-CN-6022-01A-21D-1683-08	2449901	3432594	187721682	19	19448											
LIN54	132660	broad.mit.edu	37	chr4	83891502	83891502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttggcgatttcaaaggtGagatggctattttatttggt	9	18	11	3	1	1	1	1	1	0	1	1	3	1	1	0	4	0	1	0	4	4	7			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr4:83891502G>A	ENST00000340417.3	-	4	1306	c.929C>T	c.(928-930)tCa>tTa	p.S310L	LIN54_ENST00000505397.1_Missense_Mutation_p.S310L|LIN54_ENST00000395283.2_Intron|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000510557.1_Missense_Mutation_p.S89L|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000446851.2_Missense_Mutation_p.S89L|LIN54_ENST00000442461.2_Missense_Mutation_p.S89L	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	310					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TTTCAAAGGTGAGATGGCTAT	0.333													16	97					0	0	0	0	A	83891502	G	A	83891502	3	1	101	1	0	0	0	0	1	0	0	0	8864	1294	45	2	1360	2	LIN54	4	83891502	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	80458908	83891502	107262774	20	19449											
NFKB1	4790	broad.mit.edu	37	chr4	103527776	103527776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgcacctagctgccaaaGaaggacatgataaagttctc	13	11	8	9	0	1	2	0	1	1	1	2	3	1	3	2	1	3	3	2	1	5	5			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr4:103527776G>A	ENST00000226574.4	+	17	2343	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	NFKB1_ENST00000505458.1_Missense_Mutation_p.E625K|NFKB1_ENST00000394820.4_Missense_Mutation_p.E625K|NFKB1_ENST00000600343.1_Missense_Mutation_p.E445K	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	625	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	AGCTGCCAAAGAAGGACATGA	0.502													11	72					0	0	0	0	A	103527776	G	A	103527776	3	1	101	1	0	0	0	0	1	0	0	0	10445	943	33	2	1938	2	NFKB1	4	103527776	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	19636274	103527776	87626500	21	19450											
FAM149A	25854	broad.mit.edu	37	chr4	187088346	187088346	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccagcagtcggatacGcctcgaaaaagttcattgac	11	11	8	11	3	2	1	1	1	1	0	5	3	3	2	2	1	2	2	2	1	3	5	rs150961217		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr4:187088346G>T	ENST00000356371.5	+	13	2178	c.2178G>T	c.(2176-2178)acG>acT	p.T726T	FAM149A_ENST00000502970.1_Silent_p.T435T|FAM149A_ENST00000389354.5_Silent_p.T435T|FAM149A_ENST00000227065.4_Silent_p.T435T|FAM149A_ENST00000503432.1_Silent_p.T435T|FAM149A_ENST00000514153.1_Silent_p.T435T			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	726										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AGTCGGATACGCCTCGAAAAA	0.368													21	110					7.41877e-09	8.70899e-09	1	0	T	187088346	G	T	187088346	2	4	101	1	0	0	0	0	0	0	0	1	5496	1074	38	3		3	FAM149A	4	187088346	Silent	SNP	G	TCGA-CN-6022-01A-21D-1683-08	83560570	187088346	4065930	22	19451											
DEPDC1B	55789	broad.mit.edu	37	chr5	59982801	59982801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattacctgtataagtgaCgattgtcttcaaaatcttcc	11	14	6	10	1	3	1	1	1	2	0	4	2	4	1	3	0	1	1	3	0	5	6			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr5:59982801C>G	ENST00000265036.5	-	2	369	c.302G>C	c.(301-303)cGt>cCt	p.R101P	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R101P|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R74P	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	101	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GTATAAGTGACGATTGTCTTC	0.428													27	224					0	0	0	0	G	59982801	C	G	59982801	3	3	101	1	0	0	0	0	1	0	0	0	4477	536	19	3	1327	3	DEPDC1B	5	59982801	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08		59982801	120932459	23	19452											
RAD17	5884	broad.mit.edu	37	chr5	68680680	68680680	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcagttttcaaagagtttCtactaagagcgacaaagtat	15	12	8	6	1	2	2	1	0	1	2	2	3	2	2	0	0	3	4	0	0	6	7			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr5:68680680C>T	ENST00000509734.1	+	7	1276	c.598C>T	c.(598-600)Cta>Tta	p.L200L	RAD17_ENST00000345306.6_Silent_p.L189L|RAD17_ENST00000380774.3_Silent_p.L200L|RAD17_ENST00000361732.2_Silent_p.L189L|RAD17_ENST00000358030.2_Silent_p.L24L|RAD17_ENST00000354868.5_Silent_p.L189L|RAD17_ENST00000354312.3_Silent_p.L189L|RAD17_ENST00000305138.4_Silent_p.L189L|RAD17_ENST00000282891.6_Silent_p.L103L|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Silent_p.L24L			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	200					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CAAAGAGTTTCTACTAAGAGC	0.323								Other conserved DNA damage response genes					10	43					0	0	0	0	T	68680680	C	T	68680680	2	4	101	1	0	0	0	0	0	0	0	1	13061	912	32	2		2	RAD17	5	68680680	Silent	SNP	C	TCGA-CN-6022-01A-21D-1683-08	8697879	68680680	112234580	24	19453											
CTNNA1	1495	broad.mit.edu	37	chr5	138145779	138145780	+	In_Frame_Ins	INS	-	-	GTG																															cagatgatccctgctcttctINSgtgaagcgaggcaacatggt																										TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr5:138145779_138145780insGTG	ENST00000302763.7	+	4	444_445	c.354_355insGTG	c.(352-357)tctgaa>tcGTGtgaa	p.118_119SE>SCE	CTNNA1_ENST00000355078.5_In_Frame_Ins_p.15_16SE>SCE|CTNNA1_ENST00000518825.1_In_Frame_Ins_p.118_119SE>SCE	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	118	Interaction with JUP and CTNNB1.|Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTGCTCTTCTGTGAAGCGAGG	0.455													15	84	---	---	---	---					GTG	138145780	-	GTG	138145779	7	5	101	1	0	1	1	0	0	0	0	0	4044	1567	55	0	364	0	CTNNA1	5	138145779	In_Frame_Ins	INS	-	TCGA-CN-6022-01A-21D-1683-08	69465099	138145779	42769481	25	19454											
PBX2	5089	broad.mit.edu	37	chr6	32154198	32154198	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacactccctggtccctcCgttggggatgtcactgaaga	8	10	11	12	1	1	3	1	2	0	1	4	4	4	4	3	3	1	1	3	3	2	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:32154198C>T	ENST00000375050.4	-	9	1524	c.1254G>A	c.(1252-1254)acG>acA	p.T418T		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	418							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CTGGTCCCTCCGTTGGGGATG	0.572													3	32					0	0	0	0	T	32154198	C	T	32154198	2	4	101	1	0	0	0	0	0	0	0	1	11564	639	23	1		1	PBX2	6	32154198	Silent	SNP	C	TCGA-CN-6022-01A-21D-1683-08		32154198	138960869	26	19455											
BTNL2	56244	broad.mit.edu	37	chr6	32363864	32363864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtagacatcatctttttCaaaaaggcagcggtactgcc	11	11	9	10	1	3	1	2	0	1	1	3	1	3	1	1	3	3	3	1	3	4	4			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:32363864C>G	ENST00000454136.3	-	5	1034	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	BTNL2_ENST00000429232.2_Missense_Mutation_p.E251Q|BTNL2_ENST00000544175.1_Missense_Mutation_p.E67Q|BTNL2_ENST00000374993.1_Missense_Mutation_p.E344Q|BTNL2_ENST00000540315.1_Missense_Mutation_p.E134Q|BTNL2_ENST00000374995.3_Missense_Mutation_p.E250Q|BTNL2_ENST00000414363.1_Missense_Mutation_p.E134Q			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	344	Ig-like V-type 3.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCATCTTTTTCAAAAAGGCAG	0.483													7	79					0	0	0	0	G	32363864	C	G	32363864	3	3	101	1	0	0	0	0	1	0	0	0	1574	835	29	2	345	2	BTNL2	6	32363864	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	209666	32363864	138751203	27	19456											
ZBTB22	9278	broad.mit.edu	37	chr6	33283477	33283477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagggtgggagggggcatagGaagagggagttggcccccct	8	5	21	7	0	0	1	0	0	0	1	0	5	0	4	3	7	0	2	3	7	2	2			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:33283477G>A	ENST00000431845.2	-	2	1368	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	ZBTB22_ENST00000418724.1_Missense_Mutation_p.S406F	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGGGGCATAGGAAGAGGGAGT	0.592													33	212					0	0	0	0	A	33283477	G	A	33283477	3	1	101	1	0	0	0	0	1	0	0	0	17625	1174	41	2	691	2	ZBTB22	6	33283477	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	919613	33283477	137831590	28	19457											
SCUBE3	222663	broad.mit.edu	37	chr6	35213722	35213722	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcttgccttcccagcAtccccatcctccattaccac	6	11	4	20	0	0	0	0	0	0	0	4	0	4	0	7	0	5	3	7	0	1	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:35213722A>G	ENST00000274938.7	+	20	2601	c.2599_splice	c.e20-1	p.S867_splice	SCUBE3_ENST00000394681.1_Splice_Site_p.S883_splice	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	867	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCTTCCCAGCATCCCCATCCT	0.572													87	208					0	0	0	0	G	35213722	A	G	35213722	5	3	101	1	0	0	0	0	0	0	1	0	14033	231	8	5	2679	5	SCUBE3	6	35213722	Splice_Site	SNP	A	TCGA-CN-6022-01A-21D-1683-08	1930245	35213722	135901345	29	19458											
KIF6	221458	broad.mit.edu	37	chr6	39387750	39387750	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacttcttgcttcatttataCtttctcccagggccttggct	5	18	6	12	0	3	0	1	0	2	0	4	0	3	0	2	2	3	2	2	2	3	9			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:39387750C>G	ENST00000287152.7	-	15	1878	c.1784G>C	c.(1783-1785)aGt>aCt	p.S595T	KIF6_ENST00000373216.3_Missense_Mutation_p.S595T|KIF6_ENST00000373213.4_Missense_Mutation_p.S434T|KIF6_ENST00000541946.1_Missense_Mutation_p.S46T|KIF6_ENST00000394362.1_Missense_Mutation_p.S46T|KIF6_ENST00000229913.5_Missense_Mutation_p.S46T|KIF6_ENST00000538893.1_Missense_Mutation_p.S539T|KIF6_ENST00000373215.3_Missense_Mutation_p.S595T	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	595					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTCATTTATACTTTCTCCCAG	0.358													11	89					0	0	0	0	G	39387750	C	G	39387750	3	3	101	1	0	0	0	0	1	0	0	0	8359	565	20	4	696	4	KIF6	6	39387750	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	4174028	39387750	131727317	30	19459											
EFHC1	114327	broad.mit.edu	37	chr6	52303383	52303383	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgttgactgtgaccaattCacacaggtatagcatatatt	12	14	8	7	0	1	2	1	2	0	0	1	2	1	2	1	1	1	4	1	1	5	8			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:52303383C>T	ENST00000371068.5	+	3	670	c.567C>T	c.(565-567)ttC>ttT	p.F189F	EFHC1_ENST00000433625.2_Silent_p.F98F|EFHC1_ENST00000538167.1_Silent_p.F170F	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	189	DM10 1.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GTGACCAATTCACACAGGTAT	0.383													8	86					0	0	0	0	T	52303383	C	T	52303383	2	4	101	1	0	0	0	0	0	0	0	1	4982	825	29	2		2	EFHC1	6	52303383	Silent	SNP	C	TCGA-CN-6022-01A-21D-1683-08	12915633	52303383	118811684	31	19460											
ZNF292	23036	broad.mit.edu	37	chr6	87968682	87968682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtaaaaagtggatctcagGgtgctggtgaaacttcacaa	14	9	12	6	0	2	1	2	1	1	0	3	2	2	2	0	4	2	2	0	4	5	2			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:87968682G>T	ENST00000369577.3	+	8	5378	c.5335G>T	c.(5335-5337)Ggt>Tgt	p.G1779C	ZNF292_ENST00000339907.4_Missense_Mutation_p.G1774C	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGGATCTCAGGGTGCTGGTGA	0.323													5	22					0.000602214	0.000656961	1	0	T	87968682	G	T	87968682	3	4	101	1	0	0	0	0	1	0	0	0	17921	1232	43	4	5365	4	ZNF292	6	87968682	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	35665299	87968682	83146385	32	19461											
LACE1	246269	broad.mit.edu	37	chr6	108843529	108843529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggactctccatgtttacCggagaagaggaaatctttgc	12	10	11	8	1	2	2	0	0	2	2	3	6	2	4	2	3	2	1	2	3	4	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:108843529C>T	ENST00000368977.4	+	13	1533	c.1347C>T	c.(1345-1347)acC>acT	p.T449T		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	449							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CCATGTTTACCGGAGAAGAGG	0.378													11	73					0	0	0	0	T	108843529	C	T	108843529	2	4	101	1	0	0	0	0	0	0	0	1	8648	639	23	1		1	LACE1	6	108843529	Silent	SNP	C	TCGA-CN-6022-01A-21D-1683-08	20874847	108843529	62271538	33	19462											
CCDC28A	25901	broad.mit.edu	37	chr6	139101113	139101113	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccactctggaaaacttCaagcatttggtaagcaatag	14	12	7	8	0	2	0	1	0	1	0	3	1	3	1	1	2	3	3	1	2	6	5			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:139101113C>A	ENST00000332797.6	+	3	738	c.583C>A	c.(583-585)Caa>Aaa	p.Q195K		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	195										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGGAAAACTTCAAGCATTTGG	0.393													11	62					2.27111e-07	2.60936e-07	1	0	A	139101113	C	A	139101113	3	1	101	1	0	0	0	0	1	0	0	0	2828	827	29	2	593	2	CCDC28A	6	139101113	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	30257584	139101113	32013954	34	19463											
KATNA1	11104	broad.mit.edu	37	chr6	149919454	149919454	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatggagtctatctcatcAataaatatggtggctggaga	13	11	11	6	0	3	2	2	0	2	2	4	4	3	3	0	4	0	1	0	4	5	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:149919454A>C	ENST00000367411.2	-	8	1179	c.921T>G	c.(919-921)atT>atG	p.I307M	KATNA1_ENST00000335643.8_Missense_Mutation_p.I231M|KATNA1_ENST00000335647.5_Missense_Mutation_p.I307M|KATNA1_ENST00000494504.1_5'UTR	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	307					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CTATCTCATCAATAAATATGG	0.393													20	59					0	0	0	0	C	149919454	A	C	149919454	3	2	101	1	0	0	0	0	1	0	0	0	8037	126	5	5	570	5	KATNA1	6	149919454	Missense_Mutation	SNP	A	TCGA-CN-6022-01A-21D-1683-08	10818341	149919454	21195613	35	19464											
SYNJ2	8871	broad.mit.edu	37	chr6	158483059	158483059	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccacgcgggcgacacGcctatgatcaattttgactt	8	12	9	12	4	2	2	1	2	1	0	2	3	2	2	2	1	1	0	2	1	2	5			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:158483059G>A	ENST00000355585.4	+	8	1065	c.990G>A	c.(988-990)acG>acA	p.T330T	SYNJ2_ENST00000367122.2_Silent_p.T330T|SYNJ2_ENST00000367121.3_Silent_p.T330T|SYNJ2_ENST00000449859.2_Intron	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	330	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGGGCGACACGCCTATGATCA	0.562													40	286					0	0	0	0	A	158483059	G	A	158483059	2	1	101	1	0	0	0	0	0	0	0	1	15544	1074	38	1		1	SYNJ2	6	158483059	Silent	SNP	G	TCGA-CN-6022-01A-21D-1683-08	8563605	158483059	12632008	36	19465											
PLG	5340	broad.mit.edu	37	chr6	161160163	161160163	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaagtgaatctcgaaccGcatgttcaggaaatagaagt	16	8	10	7	2	2	3	1	1	1	2	3	5	2	4	1	1	1	2	1	1	7	2	rs61731712		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:161160163G>A	ENST00000308192.9	+	16	2004	c.1941G>A	c.(1939-1941)ccG>ccA	p.P647P		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	647	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATCTCGAACCGCATGTTCAGG	0.478													34	82					0	0	0	0	A	161160163	G	A	161160163	2	1	101	1	0	0	0	0	0	0	0	1	12158	1074	38	1		1	PLG	6	161160163	Silent	SNP	G	TCGA-CN-6022-01A-21D-1683-08	2677104	161160163	9954904	37	19466											
ALKBH4	54784	broad.mit.edu	37	chr7	102098318	102098318	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgggccggaagccctccagCcccgggtagaggcccatcct	7	4	13	17	3	0	1	0	0	0	1	2	2	2	2	7	4	2	1	7	4	2	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr7:102098318C>G	ENST00000292566.3	-	3	471	c.432G>C	c.(430-432)ggG>ggC	p.G144G		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	144						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						AGCCCTCCAGCCCCGGGTAGA	0.667													9	50					0	0	0	0	G	102098318	C	G	102098318	2	3	101	1	0	0	0	0	0	0	0	1	529	726	26	4		4	ALKBH4	7	102098318	Silent	SNP	C	TCGA-CN-6022-01A-21D-1683-08		102098318	57040345	38	19467											
ARHGEF5	7984	broad.mit.edu	37	chr7	144068318	144068318	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaaacatagctgtggatcAtttccaactttcaacttcac	12	14	4	11	0	4	0	3	0	1	0	5	1	5	1	1	1	4	1	1	1	5	5			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr7:144068318A>T	ENST00000056217.5	+	6	3770	c.3596A>T	c.(3595-3597)cAt>cTt	p.H1199L	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.H121L	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1199	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCTGTGGATCATTTCCAACTT	0.488													15	201					0	0	0	0	T	144068318	A	T	144068318	3	4	101	1	0	0	0	0	1	0	0	0	911	217	8	5	3614	5	ARHGEF5	7	144068318	Missense_Mutation	SNP	A	TCGA-CN-6022-01A-21D-1683-08	41970000	144068318	15070345	39	19468											
CUL1	8454	broad.mit.edu	37	chr7	148483659	148483659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagttccaagaacccagagGaggcagaactagaagacaca	17	4	10	10	0	1	5	1	0	0	5	2	6	2	6	2	2	2	2	2	2	5	2			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr7:148483659G>A	ENST00000325222.4	+	12	1594	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	CUL1_ENST00000409469.1_Missense_Mutation_p.E439K|CUL1_ENST00000602748.1_Missense_Mutation_p.E439K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	439					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAACCCAGAGGAGGCAGAACT	0.378													17	36					0	0	0	0	A	148483659	G	A	148483659	3	1	101	1	0	0	0	0	1	0	0	0	4086	1175	41	2	1357	2	CUL1	7	148483659	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	4415341	148483659	10655004	40	19469											
ZFHX4	79776	broad.mit.edu	37	chr8	77616610	77616610	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtttacagaaatacaTggaacaccactgccctaatg	14	9	6	12	0	0	1	0	0	0	1	1	2	1	2	3	1	4	1	3	1	5	4			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr8:77616610T>G	ENST00000521891.2	+	2	735	c.287T>G	c.(286-288)aTg>aGg	p.M96R	ZFHX4_ENST00000050961.6_Missense_Mutation_p.M96R|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M96R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M96R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	96						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGAAATACATGGAACACCAC	0.502										HNSCC(33;0.089)			66	125					0	0	0	0	G	77616610	T	G	77616610	3	3	101	1	0	0	0	0	1	0	0	0	17730	1464	51	5	289	5	ZFHX4	8	77616610	Missense_Mutation	SNP	T	TCGA-CN-6022-01A-21D-1683-08		77616610	68747412	41	19470											
PTP4A3	11156	broad.mit.edu	37	chr8	142441135	142441135	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcacaagacccggtgctgCgttatgtagctcaggacctt	9	9	11	12	3	1	1	1	0	0	1	1	2	1	2	2	2	3	5	2	2	3	3	rs150126504	byFrequency	TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr8:142441135C>T	ENST00000520105.1	+	5	1381	c.438C>T	c.(436-438)tgC>tgT	p.C146C	PTP4A3_ENST00000349124.1_Silent_p.C146C|PTP4A3_ENST00000521578.1_Silent_p.C171C|PTP4A3_ENST00000524028.1_Silent_p.C85C|PTP4A3_ENST00000329397.1_Silent_p.C171C			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	171	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			CCCGGTGCTGCGTTATGTAGC	0.622													16	84					0	0	0	0	T	142441135	C	T	142441135	2	4	101	1	0	0	0	0	0	0	0	1	12852	776	27	1		1	PTP4A3	8	142441135	Silent	SNP	C	TCGA-CN-6022-01A-21D-1683-08	64824525	142441135	3922887	42	19471											
DNAI1	27019	broad.mit.edu	37	chr9	34514718	34514718	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttctactgtgttcgcagCagtcaccacagatgggaagg	9	10	11	11	1	3	1	1	0	2	1	4	2	3	2	1	2	2	3	1	2	2	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr9:34514718C>A	ENST00000242317.4	+	18	1970	c.1799C>A	c.(1798-1800)gCa>gAa	p.A600E		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	600					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GTGTTCGCAGCAGTCACCACA	0.567									Kartagener syndrome				24	93					1.66031e-10	1.99237e-10	1	0	A	34514718	C	A	34514718	3	1	101	1	0	0	0	0	1	0	0	0	4645	710	25	4	1869	4	DNAI1	9	34514718	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08		34514718	106698713	43	19472											
SVEP1	79987	broad.mit.edu	37	chr9	113148250	113148250	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgccgtggccctgcagcaGaaaaccttccctacatttga	10	9	9	13	1	0	2	0	1	0	1	1	3	1	2	4	1	5	2	4	1	3	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr9:113148250G>A	ENST00000401783.2	-	43	10501	c.10165C>T	c.(10165-10167)Ctg>Ttg	p.L3389L	SVEP1_ENST00000374469.1_Silent_p.L3366L|SVEP1_ENST00000297826.5_Silent_p.L1315L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3389	Sushi 33.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCTGCAGCAGAAAACCTTCC	0.493													4	50					0	0	0	0	A	113148250	G	A	113148250	2	1	101	1	0	0	0	0	0	0	0	1	15510	933	33	2		2	SVEP1	9	113148250	Silent	SNP	G	TCGA-CN-6022-01A-21D-1683-08	78633532	113148250	28065181	44	19473											
SPAG6	9576	broad.mit.edu	37	chr10	22690177	22690177	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgatgctcctcccaatattCtgaaacatgtggttggacag	11	12	9	9	0	1	2	0	2	1	0	3	3	3	3	2	2	2	2	2	2	3	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr10:22690177C>G	ENST00000376603.2	+	9	1655	c.1513C>G	c.(1513-1515)Ctg>Gtg	p.L505V	SPAG6_ENST00000313311.6_Missense_Mutation_p.L429V|SPAG6_ENST00000538630.1_Missense_Mutation_p.L404V|SPAG6_ENST00000376601.1_Missense_Mutation_p.L190V|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376624.3_Missense_Mutation_p.L429V			O75602	SPAG6_HUMAN	sperm associated antigen 6	429					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TCCCAATATTCTGAAACATGT	0.348													8	26					0	0	0	0	G	22690177	C	G	22690177	3	3	101	1	0	0	0	0	1	0	0	0	15072	912	32	2	1319	2	SPAG6	10	22690177	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08		22690177	112844570	45	19474											
OPN4	94233	broad.mit.edu	37	chr10	88425489	88425489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaggggctgatccccaGccaggaccccaggatgtagg	10	4	14	13	0	0	1	0	1	0	0	1	4	1	3	6	5	1	2	6	5	2	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr10:88425489G>T	ENST00000372071.2	+	11	1678	c.1451G>T	c.(1450-1452)aGc>aTc	p.S484I	OPN4_ENST00000241891.5_Missense_Mutation_p.S473I	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	473					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	p.S484I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTGATCCCCAGCCAGGACCCC	0.577													23	54					1.10923e-09	1.31645e-09	1	0	T	88425489	G	T	88425489	3	4	101	1	0	0	0	0	1	0	0	0	10953	971	34	4	1493	4	OPN4	10	88425489	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	65735312	88425489	47109258	46	19475											
COX15	1355	broad.mit.edu	37	chr10	101474430	101474430	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgactggtgagtggcggccaGaggagttgggacatacatca	10	8	16	7	1	1	3	1	2	0	1	1	5	1	5	1	5	1	1	1	5	1	2			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr10:101474430G>C	ENST00000016171.5	-	9	1197	c.1147C>G	c.(1147-1149)Ctg>Gtg	p.L383V	CUTC_ENST00000493385.1_Intron|COX15_ENST00000497381.1_5'UTR|COX15_ENST00000370483.5_Intron			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	383					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GTGGCGGCCAGAGGAGTTGGG	0.507													12	84					0	0	0	0	C	101474430	G	C	101474430	3	2	101	1	0	0	0	0	1	0	0	0	3794	933	33	2	159	2	COX15	10	101474430	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	13048941	101474430	34060317	47	19476											
SEC31B	25956	broad.mit.edu	37	chr10	102247522	102247522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccacacatcgggcaacctCatggagcccagccacgacat	12	5	8	16	2	1	0	1	0	0	0	3	2	2	1	4	2	3	1	4	2	1	0			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr10:102247522C>T	ENST00000370345.3	-	26	3488	c.3391G>A	c.(3391-3393)Gag>Aag	p.E1131K		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1131					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CGGGCAACCTCATGGAGCCCA	0.587													4	31					0	0	0	0	T	102247522	C	T	102247522	3	4	101	1	0	0	0	0	1	0	0	0	14086	835	29	2	152	2	SEC31B	10	102247522	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	773092	102247522	33287225	48	19477											
CTBP2	1488	broad.mit.edu	37	chr10	126716163	126716163	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcagcgtcctgtggtcGgtggtttggctcaaaccaag	7	9	15	10	2	1	0	1	0	0	0	3	0	2	0	2	5	2	3	2	5	2	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr10:126716163G>T	ENST00000309035.6	-	1	296	c.166C>A	c.(166-168)Cga>Aga	p.R56R	CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TCCTGTGGTCGGTGGTTTGGC	0.637													7	59					8.12818e-05	9.04994e-05	1	0	T	126716163	G	T	126716163	2	4	101	1	0	0	0	0	0	0	0	1	4030	1124	39	3		3	CTBP2	10	126716163	Silent	SNP	G	TCGA-CN-6022-01A-21D-1683-08	24468641	126716163	8818584	49	19478											
OR8H1	219469	broad.mit.edu	37	chr11	56057964	56057964	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatcatgatttcaatgtcgTatgtgtccatgcaggacaga	11	13	10	7	1	2	2	2	1	0	1	4	3	3	3	1	1	1	3	1	1	3	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr11:56057964T>C	ENST00000313022.2	-	1	602	c.575A>G	c.(574-576)tAc>tGc	p.Y192C		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTCAATGTCGTATGTGTCCAT	0.443													14	71					0	0	0	0	C	56057964	T	C	56057964	3	2	101	1	0	0	0	0	1	0	0	0	11308	1638	57	5	362	5	OR8H1	11	56057964	Missense_Mutation	SNP	T	TCGA-CN-6022-01A-21D-1683-08		56057964	78948552	50	19479											
TRHDE	29953	broad.mit.edu	37	chr12	72666978	72666978	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagccgtggacgcagctgcgCctgtcgggccacctgaagcc	6	5	15	15	4	0	1	0	1	0	0	1	3	0	2	5	2	4	2	5	2	1	0			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:72666978C>T	ENST00000261180.4	+	1	516	c.420C>T	c.(418-420)cgC>cgT	p.R140R	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	140					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CGCAGCTGCGCCTGTCGGGCC	0.697													5	25					0	0	0	0	T	72666978	C	T	72666978	2	4	101	1	0	0	0	0	0	0	0	1	16574	726	26	4		4	TRHDE	12	72666978	Silent	SNP	C	TCGA-CN-6022-01A-21D-1683-08		72666978	61184917	51	19480											
CUX2	23316	broad.mit.edu	37	chr12	111758444	111758444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtgccgcgcaccctgaaGcccaccgtgccgccgctgac	6	5	11	19	6	0	2	0	2	0	0	0	2	0	2	6	0	4	2	6	0	2	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:111758444G>A	ENST00000261726.6	+	17	2785	c.2631G>A	c.(2629-2631)aaG>aaA	p.K877K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	877						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCACCCTGAAGCCCACCGTGC	0.701													4	12					0	0	0	0	A	111758444	G	A	111758444	2	1	101	1	0	0	0	0	0	0	0	1	4097	962	34	4		4	CUX2	12	111758444	Silent	SNP	G	TCGA-CN-6022-01A-21D-1683-08	39091466	111758444	22093451	52	19481											
TRAFD1	10906	broad.mit.edu	37	chr12	112578685	112578685	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatttagaactttccattctCaaactgaaggaacatgaaga	16	11	7	7	0	1	4	1	2	1	2	3	6	2	5	1	1	3	0	1	1	6	4			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:112578685C>G	ENST00000257604.5	+	5	917	c.300C>G	c.(298-300)ctC>ctG	p.L100L	TRAFD1_ENST00000412615.2_Silent_p.L100L	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	100					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TTTCCATTCTCAAACTGAAGG	0.463													22	73					0	0	0	0	G	112578685	C	G	112578685	2	3	101	1	0	0	0	0	0	0	0	1	16542	813	29	2		2	TRAFD1	12	112578685	Silent	SNP	C	TCGA-CN-6022-01A-21D-1683-08	820241	112578685	21273210	53	19482											
P2RX7	5027	broad.mit.edu	37	chr12	121605311	121605311	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcggaataatgggcattgaGatctactgggactgcaacct	11	9	13	8	1	1	1	0	1	1	1	1	4	1	3	1	4	3	2	1	4	4	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:121605311G>A	ENST00000328963.5	+	7	709	c.255G>A	c.(253-255)gaG>gaA	p.E85E	P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Silent_p.E165E|P2RX7_ENST00000377162.2_Intron|P2RX7_ENST00000541446.1_Intron|P2RX7_ENST00000546057.1_Silent_p.E255E			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	255						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGGCATTGAGATCTACTGGG	0.537													16	80					0	0	0	0	A	121605311	G	A	121605311	2	1	101	1	0	0	0	0	0	0	0	1	11416	933	33	2		2	P2RX7	12	121605311	Silent	SNP	G	TCGA-CN-6022-01A-21D-1683-08	9026626	121605311	12246584	54	19483											
DNAH10	196385	broad.mit.edu	37	chr12	124268604	124268604	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaagtcttggatgtgatCaaggaatccgactccatgct	13	10	10	8	1	2	2	1	1	1	1	4	5	4	4	2	2	1	1	2	2	4	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:124268604C>T	ENST00000409039.3	+	8	952	c.927C>T	c.(925-927)atC>atT	p.I309I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	309	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGATGTGATCAAGGAATCCG	0.463													28	41					0	0	0	0	T	124268604	C	T	124268604	2	4	101	1	0	0	0	0	0	0	0	1	4635	816	29	2		2	DNAH10	12	124268604	Silent	SNP	C	TCGA-CN-6022-01A-21D-1683-08	2663293	124268604	9583291	55	19484											
DNAH10	196385	broad.mit.edu	37	chr12	124285882	124285882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcacatgctcataggaacGttaaacgatgcggagtctgt	12	11	10	8	3	3	0	2	0	1	0	3	3	3	2	0	2	4	2	0	2	5	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:124285882G>A	ENST00000409039.3	+	15	2188	c.2163G>A	c.(2161-2163)acG>acA	p.T721T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	721	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCATAGGAACGTTAAACGATG	0.463													69	164					0	0	0	0	A	124285882	G	A	124285882	2	1	101	1	0	0	0	0	0	0	0	1	4635	1132	40	1		1	DNAH10	12	124285882	Silent	SNP	G	TCGA-CN-6022-01A-21D-1683-08	17278	124285882	9566013	56	19485											
PIWIL1	9271	broad.mit.edu	37	chr12	130827639	130827639	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaggaggaacagccaaGtcacaaggtgaagagaaagt	18	3	13	7	0	1	2	1	1	0	1	1	5	1	4	1	3	3	1	1	3	5	0			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:130827639G>A	ENST00000245255.3	+	3	455	c.183G>A	c.(181-183)aaG>aaA	p.K61K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	61					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAACAGCCAAGTCACAAGGTG	0.438													9	14					0	0	0	0	A	130827639	G	A	130827639	2	1	101	1	0	0	0	0	0	0	0	1	12029	1020	36	4		4	PIWIL1	12	130827639	Silent	SNP	G	TCGA-CN-6022-01A-21D-1683-08	6541757	130827639	3024256	57	19486											
ARL11	115761	broad.mit.edu	37	chr13	50204602	50204602	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgggttctgtgaattccAgaggtcacaaggcggaagcc	10	8	13	10	1	2	2	1	1	1	1	3	3	3	3	3	4	1	1	3	4	3	2			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr13:50204602A>G	ENST00000282026.1	+	2	354	c.19A>G	c.(19-21)Aga>Gga	p.R7G	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	7					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		TGTGAATTCCAGAGGTCACAA	0.572													13	106					0	0	0	0	G	50204602	A	G	50204602	3	3	101	1	0	0	0	0	1	0	0	0	929	180	7	5	21	5	ARL11	13	50204602	Missense_Mutation	SNP	A	TCGA-CN-6022-01A-21D-1683-08		50204602	64965276	58	19487											
LIG4	3981	broad.mit.edu	37	chr13	108861732	108861732	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatctttggggcagcttTccgctttttttcttgtggtt	2	21	9	9	1	3	0	1	0	2	0	4	0	4	0	1	3	1	4	1	3	0	8			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr13:108861732T>A	ENST00000356922.4	-	2	2157	c.1885A>T	c.(1885-1887)Aaa>Taa	p.K629*	LIG4_ENST00000442234.1_Nonsense_Mutation_p.K629*|LIG4_ENST00000405925.1_Nonsense_Mutation_p.K629*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	629					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GGGGCAGCTTTCCGCTTTTTT	0.383								Non-homologous end-joining					22	51					0	0	0	0	A	108861732	T	A	108861732	4	1	101	1	0	0	0	0	0	1	0	0	8837	1792	62	5	854	5	LIG4	13	108861732	Nonsense_Mutation	SNP	T	TCGA-CN-6022-01A-21D-1683-08	58657130	108861732	6308146	59	19488											
COL4A1	1282	broad.mit.edu	37	chr13	110829000	110829000	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctgtcctgcctgccCgtcctttccaggcactcctg	3	10	9	19	1	0	0	0	0	0	0	4	0	4	0	7	2	2	2	7	2	0	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr13:110829000C>G	ENST00000375820.4	-	35	3062	c.2941G>C	c.(2941-2943)Ggg>Cgg	p.G981R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	981	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGCCTGCCCGTCCTTTCCA	0.577													15	43					0	0	0	0	G	110829000	C	G	110829000	3	3	101	1	0	0	0	0	1	0	0	0	3719	652	23	3	2140	3	COL4A1	13	110829000	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	1967268	110829000	4340878	60	19489											
KIAA0247	9766	broad.mit.edu	37	chr14	70175519	70175519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgccacctgctgaccccaGagtacagattgtgctgtcag	8	10	11	12	0	1	3	1	1	0	2	1	3	1	3	4	0	4	3	4	0	1	2			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr14:70175519G>C	ENST00000342745.4	+	5	897	c.584G>C	c.(583-585)aGa>aCa	p.R195T		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	195						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GCTGACCCCAGAGTACAGATT	0.592													18	89					0	0	0	0	C	70175519	G	C	70175519	3	2	101	1	0	0	0	0	1	0	0	0	8216	942	33	2	598	2	KIAA0247	14	70175519	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08		70175519	37174021	61	19490											
C14orf79	122616	broad.mit.edu	37	chr14	105457937	105457937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacttctttcttgttctcGgaatagatgctgcgcagaag	10	13	10	8	2	3	3	0	0	3	3	4	4	3	4	0	1	3	3	0	1	4	5			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr14:105457937G>A	ENST00000547315.1	+	3	1318	c.679G>A	c.(679-681)Gga>Aga	p.G227R	C14orf79_ENST00000550614.1_5'UTR|C14orf79_ENST00000549584.1_3'UTR|C14orf79_ENST00000549240.1_5'UTR	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	227								p.G227*(1)		breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TCTTGTTCTCGGAATAGATGC	0.562													42	70					0	0	0	0	A	105457937	G	A	105457937	3	1	101	1	0	0	0	0	1	0	0	0	1792	1117	39	1	689	1	C14orf79	14	105457937	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	35282418	105457937	1891603	62	19491											
APBA2	321	broad.mit.edu	37	chr15	29390768	29390768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggatcaaggttttaaatGcagacacgcaggtaagcgtt	14	9	12	6	2	1	2	1	0	0	2	1	3	1	3	0	3	2	5	0	3	4	4			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:29390768G>T	ENST00000558402.1	+	10	1926	c.1327G>T	c.(1327-1329)Gca>Tca	p.A443S	APBA2_ENST00000558259.1_Missense_Mutation_p.A443S|APBA2_ENST00000411764.1_Missense_Mutation_p.A431S|APBA2_ENST00000561069.1_Missense_Mutation_p.A443S|APBA2_ENST00000558330.1_Missense_Mutation_p.A431S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	443	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGTTTTAAATGCAGACACGCA	0.468													7	50					0.00198382	0.00210051	1	0	T	29390768	G	T	29390768	3	4	101	1	0	0	0	0	1	0	0	0	758	1319	46	4	1349	4	APBA2	15	29390768	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08		29390768	73140624	63	19492											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32921801	32921801	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatattttttcagcccagCtatctgaatcaccagtgatt	10	16	6	9	0	3	3	2	3	1	0	3	3	3	3	2	0	2	1	2	0	3	7			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:32921801C>T	ENST00000361627.3	+	8	1665	c.943C>T	c.(943-945)Cta>Tta	p.L315L	ARHGAP11A_ENST00000543522.1_Silent_p.L126L|ARHGAP11A_ENST00000563864.1_Silent_p.L315L|ARHGAP11A_ENST00000567348.1_Silent_p.L315L|ARHGAP11A_ENST00000565905.1_Silent_p.L126L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	315					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TTCAGCCCAGCTATCTGAATC	0.343													9	84					0	0	0	0	T	32921801	C	T	32921801	2	4	101	1	0	0	0	0	0	0	0	1	865	796	28	4		4	ARHGAP11A	15	32921801	Silent	SNP	C	TCGA-CN-6022-01A-21D-1683-08	3531033	32921801	69609591	64	19493											
UBL7	84993	broad.mit.edu	37	chr15	74738533	74738533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtcctggatgcccatGtcacgtagctgctgcagctg	6	11	11	13	2	2	0	2	0	0	0	4	1	3	1	2	1	5	5	2	1	1	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:74738533G>A	ENST00000567435.1	-	11	1504	c.1041C>T	c.(1039-1041)gaC>gaT	p.D347D	UBL7_ENST00000564488.1_Silent_p.D347D|UBL7_ENST00000395081.2_Silent_p.D347D|UBL7_ENST00000565335.1_Silent_p.D347D|UBL7_ENST00000361351.4_Silent_p.D347D			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	347	UBA.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GGATGCCCATGTCACGTAGCT	0.602													17	89					0	0	0	0	A	74738533	G	A	74738533	2	1	101	1	0	0	0	0	0	0	0	1	16986	1368	48	4		4	UBL7	15	74738533	Silent	SNP	G	TCGA-CN-6022-01A-21D-1683-08	41816732	74738533	27792859	65	19494											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164982	85164982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgctcccagctcgtagTgcaccagcggacccacacgg	8	4	11	18	4	0	0	0	0	0	0	2	1	1	1	4	2	4	4	4	2	1	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:85164982T>C	ENST00000448803.2	+	3	1848	c.1556T>C	c.(1555-1557)gTg>gCg	p.V519A	ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.V519A|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.V369A|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.V518A	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	519					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CAGCTCGTAGTGCACCAGCGG	0.592													30	147					0	0	0	0	C	85164982	T	C	85164982	3	2	101	1	0	0	0	0	1	0	0	0	18323	1696	59	5	1652	5	ZSCAN2	15	85164982	Missense_Mutation	SNP	T	TCGA-CN-6022-01A-21D-1683-08	10426449	85164982	17366410	66	19495											
KLHL25	64410	broad.mit.edu	37	chr15	86312285	86312285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctgccatgaggagggcctCgctggagacggcctcctgca	6	7	15	13	2	1	2	0	1	1	1	3	4	2	3	4	4	2	2	4	4	0	0			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:86312285C>T	ENST00000337975.5	-	2	1031	c.757G>A	c.(757-759)Gag>Aag	p.E253K	KLHL25_ENST00000536947.1_Missense_Mutation_p.E253K|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	253						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						AGGAGGGCCTCGCTGGAGACG	0.657													8	23					0	0	0	0	T	86312285	C	T	86312285	3	4	101	1	0	0	0	0	1	0	0	0	8432	893	31	1	1016	1	KLHL25	15	86312285	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	1147303	86312285	16219107	67	19496											
TMEM8A	58986	broad.mit.edu	37	chr16	426289	426289	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgtccatgtcctcccgCgtgactgggtagtttgtgag	6	11	12	12	3	0	2	0	2	0	0	3	2	3	2	4	1	0	2	4	1	1	2			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr16:426289C>T	ENST00000431232.2	-	6	1231	c.1071G>A	c.(1069-1071)acG>acA	p.T357T	TMEM8A_ENST00000250930.3_Silent_p.T164T	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	357					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TGTCCTCCCGCGTGACTGGGT	0.672													31	74					0	0	0	0	T	426289	C	T	426289	2	4	101	1	0	0	0	0	0	0	0	1	16308	755	27	1		1	TMEM8A	16	426289	Silent	SNP	C	TCGA-CN-6022-01A-21D-1683-08		426289	89928464	68	19497											
GRIN2A	2903	broad.mit.edu	37	chr16	9857175	9857175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctggaacagtacgatGccgttgacctcaaggacgac	10	8	11	12	3	1	1	1	1	0	0	2	5	2	3	3	2	3	2	3	2	3	2			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr16:9857175G>A	ENST00000396573.2	-	14	4535	c.4226C>T	c.(4225-4227)gCa>gTa	p.A1409V	GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1409V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1409V|GRIN2A_ENST00000404927.2_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1409					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACAGTACGATGCCGTTGACCT	0.502													19	41					0	0	0	0	A	9857175	G	A	9857175	3	1	101	1	0	0	0	0	1	0	0	0	6829	1319	46	4	172	4	GRIN2A	16	9857175	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	9430886	9857175	80497578	69	19498											
CNGB1	1258	broad.mit.edu	37	chr16	57994804	57994804	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctccagccacagaagCagccgcagcccaggcctgca	9	5	10	17	1	1	1	0	0	1	1	2	1	2	1	5	1	6	4	5	1	1	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr16:57994804C>T	ENST00000564448.1	-	8	534	c.474G>A	c.(472-474)ctG>ctA	p.L158L	CNGB1_ENST00000311183.4_Silent_p.L158L|CNGB1_ENST00000251102.8_Silent_p.L158L			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	158					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCACAGAAGCAGCCGCAGCC	0.622													3	22					0	0	0	0	T	57994804	C	T	57994804	2	4	101	1	0	0	0	0	0	0	0	1	3630	697	25	4		4	CNGB1	16	57994804	Silent	SNP	C	TCGA-CN-6022-01A-21D-1683-08	48137629	57994804	32359949	70	19499											
DPEP3	64180	broad.mit.edu	37	chr16	68011733	68011733	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaactcctctactactttCtgcagaaacaattaggtttt	11	16	4	10	0	3	1	1	0	2	1	4	1	4	1	1	1	5	2	1	1	6	7			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr16:68011733C>G	ENST00000268793.4	-	6	1205		c.e6-1			NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3						meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CTACTACTTTCTGCAGAAACA	0.498													3	24					0	0	0	0	G	68011733	C	G	68011733	5	3	101	1	0	0	0	0	0	0	1	0	4751	927	32	2	730	2	DPEP3	16	68011733	Splice_Site	SNP	C	TCGA-CN-6022-01A-21D-1683-08	10016929	68011733	22343020	71	19500											
HYDIN	54768	broad.mit.edu	37	chr16	70926425	70926425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatccctacagagtccaCggaaaagctgaaagacaaga	18	5	9	9	1	0	5	0	2	0	3	2	6	2	6	2	1	2	1	2	1	6	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr16:70926425C>A	ENST00000393567.2	-	56	9406	c.9256G>T	c.(9256-9258)Gtg>Ttg	p.V3086L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3086										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACAGAGTCCACGGAAAAGCTG	0.453													9	53					7.48243e-07	8.50634e-07	1	0	A	70926425	C	A	70926425	3	1	101	1	0	0	0	0	1	0	0	0	7520	536	19	3	6233	3	HYDIN	16	70926425	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	2914692	70926425	19428328	72	19501											
ITGAE	3682	broad.mit.edu	37	chr17	3661071	3661071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgtaaggttgagggggtcctCgaatatgccaccatcggtga	9	9	14	9	3	0	2	0	2	0	0	3	3	1	2	3	4	1	2	3	4	3	3	rs143543471		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:3661071C>G	ENST00000263087.4	-	9	1047	c.949G>C	c.(949-951)Gag>Cag	p.E317Q		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	317	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGGGGGTCCTCGAATATGCCA	0.562													33	239					0	0	0	0	G	3661071	C	G	3661071	3	3	101	1	0	0	0	0	1	0	0	0	7938	893	31	3	2682	3	ITGAE	17	3661071	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08		3661071	77534139	73	19502											
TP53	7157	broad.mit.edu	37	chr17	7577498	7577498	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtggcaagtggctcctgaCctggagtcttccagtgtgat	6	11	15	9	0	1	2	0	2	1	0	3	3	3	3	3	4	0	2	3	4	1	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:7577498C>T	ENST00000420246.2	-	7	915		c.e7+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(29)|p.0?(8)|p.E258fs*71(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGCTCCTGACCTGGAGTCTT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	30					0	0	0	0	T	7577498	C	T	7577498	5	4	101	1	0	0	0	0	0	0	1	0	16476	521	18	4	507	4	TP53	17	7577498	Splice_Site	SNP	C	TCGA-CN-6022-01A-21D-1683-08	3916427	7577498	73617712	74	19503											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	44					0	0	0	0	A	7577539	G	A	7577539	3	1	101	1	0	0	0	0	1	0	0	0	16476	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	41	7577539	73617671	75	19504											
ABCA6	23460	broad.mit.edu	37	chr17	67092867	67092867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattaaaatgaagaagctgaCgtccactagtgcctgcccac	14	8	8	11	1	0	3	0	2	0	1	1	3	1	3	3	0	3	1	3	0	6	2			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:67092867C>T	ENST00000284425.2	-	24	3370	c.3196G>A	c.(3196-3198)Gtc>Atc	p.V1066I	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1066					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAGAAGCTGACGTCCACTAGT	0.353													6	19					0	0	0	0	T	67092867	C	T	67092867	3	4	101	1	0	0	0	0	1	0	0	0	36	536	19	1	1721	1	ABCA6	17	67092867	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	59515328	67092867	14102343	76	19505											
OTOP2	92736	broad.mit.edu	37	chr17	72927021	72927021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttcaccgaggaccgcccGgggctgagcctcacagtacc	7	5	12	17	3	2	1	2	1	0	0	2	3	2	2	6	3	2	2	6	3	1	2			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:72927021G>T	ENST00000331427.4	+	6	1383	c.1291G>T	c.(1291-1293)Ggg>Tgg	p.G431W	OTOP2_ENST00000580223.1_Missense_Mutation_p.G431W	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	431						integral to membrane		p.G431R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGACCGCCCGGGGCTGAGCC	0.622													7	97					1.06961e-07	1.24213e-07	1	0	T	72927021	G	T	72927021	3	4	101	1	0	0	0	0	1	0	0	0	11377	1116	39	3	1309	3	OTOP2	17	72927021	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	5834154	72927021	8268189	77	19506											
QRICH2	84074	broad.mit.edu	37	chr17	74287585	74287585	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgatgccacatgctgttGatctgggtgtgtagatccca	8	12	13	8	0	1	3	0	2	1	1	2	3	2	3	2	2	2	3	2	2	1	2			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:74287585G>A	ENST00000262765.5	-	4	2904	c.2725C>T	c.(2725-2727)Caa>Taa	p.Q909*		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	909							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACATGCTGTTGATCTGGGTGT	0.512													14	122					0	0	0	0	A	74287585	G	A	74287585	4	1	101	1	0	0	0	0	0	1	0	0	12962	1299	45	2	2330	2	QRICH2	17	74287585	Nonsense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	1360564	74287585	6907625	78	19507											
CEP76	79959	broad.mit.edu	37	chr18	12697408	12697408	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccattctagttccatcacCtagcaatataatccaaacga	15	10	4	12	1	2	0	1	0	1	0	4	1	4	0	4	0	3	2	4	0	6	6			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr18:12697408C>T	ENST00000262127.2	-	5	746		c.e5-1		RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000423709.2_Splice_Site	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa						G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTTCCATCACCTAGCAATATA	0.299													18	52					0	0	0	0	T	12697408	C	T	12697408	5	4	101	1	0	0	0	0	0	0	1	0	3290	695	24	4	1491	4	CEP76	18	12697408	Splice_Site	SNP	C	TCGA-CN-6022-01A-21D-1683-08		12697408	65379840	79	19508											
ROCK1	6093	broad.mit.edu	37	chr18	18625307	18625307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaagaactacttctgcaGtatagaatcgtgcccatttt	12	13	7	9	1	1	2	0	0	1	2	2	2	1	2	1	0	5	3	1	0	6	6			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr18:18625307G>T	ENST00000399799.1	-	5	1476	c.536C>A	c.(535-537)aCt>aAt	p.T179N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	179	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TACTTCTGCAGTATAGAATCG	0.373													10	47					6.42651e-13	7.79846e-13	1	0	T	18625307	G	T	18625307	3	4	101	1	0	0	0	0	1	0	0	0	13602	1029	36	4	3644	4	ROCK1	18	18625307	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	5927899	18625307	59451941	80	19509											
PRKACA	5566	broad.mit.edu	37	chr19	14211687	14211687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatctccccgccgggcaCgtactccatgaccatgtata	10	8	8	15	3	1	1	0	1	1	0	3	2	2	1	5	1	2	3	5	1	4	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:14211687C>T	ENST00000308677.4	-	5	566	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	PRKACA_ENST00000589994.1_Missense_Mutation_p.V116M|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	124	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CCGCCGGGCACGTACTCCATG	0.602													11	52					0	0	0	0	T	14211687	C	T	14211687	3	4	101	1	0	0	0	0	1	0	0	0	12577	536	19	1	709	1	PRKACA	19	14211687	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08		14211687	44917296	81	19510											
IL12RB1	3594	broad.mit.edu	37	chr19	18194250	18194250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgccccgaacctgagtctGcatccggatatggcgggtcc	7	8	12	14	3	1	1	0	1	1	0	3	3	3	2	5	3	3	1	5	3	2	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:18194250G>A	ENST00000600835.1	-	3	419	c.116C>T	c.(115-117)gCa>gTa	p.A39V	IL12RB1_ENST00000322153.6_Missense_Mutation_p.A39V|IL12RB1_ENST00000430026.2_Missense_Mutation_p.A39V|IL12RB1_ENST00000593993.1_Missense_Mutation_p.A39V			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	39					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						ACCTGAGTCTGCATCCGGATA	0.567													4	107					0	0	0	0	A	18194250	G	A	18194250	3	1	101	1	0	0	0	0	1	0	0	0	7679	1319	46	4	2065	4	IL12RB1	19	18194250	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	3982563	18194250	40934733	82	19511											
ZNF737	100129842	broad.mit.edu	37	chr19	20728189	20728189	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtatgaattatcttatgtgTagtaaggttagaggagcgct	12	14	12	3	1	1	2	0	1	1	1	1	3	1	3	0	2	1	5	0	2	7	6	rs57947174	by1000genomes	TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:20728189T>G	ENST00000427401.4	-	4	914	c.820A>C	c.(820-822)Aca>Cca	p.T274P		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	274					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						ATCTTATGTGTAGTAAGGTTA	0.398													4	19					0	0	0	0	G	20728189	T	G	20728189	3	3	101	1	0	0	0	0	1	0	0	0	18220	1638	57	5	794	5	ZNF737	19	20728189	Missense_Mutation	SNP	T	TCGA-CN-6022-01A-21D-1683-08	2533939	20728189	38400794	83	19512											
RYR1	6261	broad.mit.edu	37	chr19	39010003	39010003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaggcggaggcccaggagGgcgagctgctggtgcgggac	7	3	20	11	3	0	0	0	0	0	0	0	4	0	3	2	7	3	2	2	7	1	0			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:39010003G>T	ENST00000355481.4	+	67	10299	c.10168G>T	c.(10168-10170)Ggc>Tgc	p.G3390C	RYR1_ENST00000359596.3_Missense_Mutation_p.G3390C|RYR1_ENST00000360985.3_Missense_Mutation_p.G3390C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3390					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCCCAGGAGGGCGAGCTGCT	0.662													6	20					0.00116845	0.00124943	1	0	T	39010003	G	T	39010003	3	4	101	1	0	0	0	0	1	0	0	0	13853	1232	43	4	10434	4	RYR1	19	39010003	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	18281814	39010003	20118980	84	19513											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41782195	41782195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaggggccgtgtatgcttcGagatgaaggtgagtaggagc	10	8	18	5	2	0	3	0	2	0	1	1	6	0	4	1	4	2	3	1	4	4	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:41782195G>A	ENST00000392006.3	+	5	951	c.778G>A	c.(778-780)Gag>Aag	p.E260K	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.E171K|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.E160K|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.E260K|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.E160K|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.E160K|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.E217K|HNRNPUL1_ENST00000594207.1_3'UTR	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	260	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TGTATGCTTCGAGATGAAGGT	0.532													12	88					0	0	0	0	A	41782195	G	A	41782195	3	1	101	1	0	0	0	0	1	0	0	0	7324	1059	37	1	796	1	HNRNPUL1	19	41782195	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	2772192	41782195	17346788	85	19514											
PPFIA3	8541	broad.mit.edu	37	chr19	49631304	49631304	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttggctacagcgcagctGcggctgcgcgagctcggcca	5	6	17	13	5	0	0	0	0	0	0	1	1	0	0	1	4	6	6	1	4	1	2			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:49631304G>A	ENST00000334186.4	+	2	523	c.174G>A	c.(172-174)ctG>ctA	p.L58L	PPFIA3_ENST00000602351.1_Silent_p.L58L	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	58						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CAGCGCAGCTGCGGCTGCGCG	0.726													10	13					0	0	0	0	A	49631304	G	A	49631304	2	1	101	1	0	0	0	0	0	0	0	1	12382	1306	46	4		4	PPFIA3	19	49631304	Silent	SNP	G	TCGA-CN-6022-01A-21D-1683-08	7849109	49631304	9497679	86	19515											
OVOL2	58495	broad.mit.edu	37	chr20	18022341	18022341	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcacagctgtgaaccacCgagtcgctgcacgtgcctgt	8	8	12	13	3	1	1	1	1	0	0	2	2	1	1	3	1	4	3	3	1	1	0			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr20:18022341C>A	ENST00000278780.6	-	3	590	c.348G>T	c.(346-348)tcG>tcT	p.S116S	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	116					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TGTGAACCACCGAGTCGCTGC	0.612													10	28					0.000673444	0.00072732	1	0	A	18022341	C	A	18022341	2	1	101	1	0	0	0	0	0	0	0	1	11398	639	23	3		3	OVOL2	20	18022341	Silent	SNP	C	TCGA-CN-6022-01A-21D-1683-08		18022341	45003179	87	19516											
LSS	4047	broad.mit.edu	37	chr21	47635094	47635094	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggcaggggcactgacCgggccgatgctgatgctctt	5	7	17	12	3	1	2	0	2	1	0	1	3	1	2	3	5	2	4	3	5	0	1			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr21:47635094C>T	ENST00000397728.3	-	9	1089	c.1011_splice	c.e9+1	p.P337_splice	LSS_ENST00000356396.4_Splice_Site_p.P337_splice|LSS_ENST00000522411.1_Splice_Site_p.P326_splice|LSS_ENST00000457828.2_Splice_Site_p.P257_splice	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	337					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGGCACTGACCGGGCCGATGC	0.642													7	67					0	0	0	0	T	47635094	C	T	47635094	5	4	101	1	0	0	0	0	0	0	1	0	9129	666	23	1	1243	1	LSS	21	47635094	Splice_Site	SNP	C	TCGA-CN-6022-01A-21D-1683-08		47635094	494801	88	19517											
PCNT	5116	broad.mit.edu	37	chr21	47863774	47863774	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaccagagagtccccccCaacccgggatgtaccctctg	10	5	9	17	1	1	2	0	0	1	2	2	4	2	3	6	1	3	1	6	1	3	1	rs138097697		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr21:47863774C>G	ENST00000359568.5	+	45	9859	c.9752C>G	c.(9751-9753)cCa>cGa	p.P3251R	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3251					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAGTCCCCCCCAACCCGGGAT	0.592													40	73					0	0	0	0	G	47863774	C	G	47863774	3	3	101	1	0	0	0	0	1	0	0	0	11661	594	21	4	9930	4	PCNT	21	47863774	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08	228680	47863774	266121	89	19518											
RFPL3	10738	broad.mit.edu	37	chr22	32756682	32756682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctatacattcaggagcGtctctgctgaggagccactg	9	11	11	10	1	3	1	1	1	2	0	4	3	3	3	1	2	4	1	1	2	2	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr22:32756682G>A	ENST00000249007.4	+	2	1022	c.817G>A	c.(817-819)Gtc>Atc	p.V273I	RFPL3S_ENST00000461833.1_5'UTR|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.V244I|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.V244I	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	273	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ATTCAGGAGCGTCTCTGCTGA	0.483													14	47					0	0	0	0	A	32756682	G	A	32756682	3	1	101	1	0	0	0	0	1	0	0	0	13337	1145	40	1	823	1	RFPL3	22	32756682	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08		32756682	18547884	90	19519											
PNPLA4	8228	broad.mit.edu	37	chrX	7868777	7868777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaacagtgtcatcaaaacCacactgatacaaagattcca	17	9	4	11	0	2	2	2	1	0	1	3	2	3	2	2	0	3	0	2	0	5	3			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chrX:7868777C>T	ENST00000381042.4	-	7	882	c.712G>A	c.(712-714)Ggt>Agt	p.G238S	PNPLA4_ENST00000537427.1_Missense_Mutation_p.G151S|PNPLA4_ENST00000444736.1_Missense_Mutation_p.G238S	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	238					lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TCATCAAAACCACACTGATAC	0.343													5	10					0	0	0	0	T	7868777	C	T	7868777	3	4	101	1	0	0	0	0	1	0	0	0	12239	594	21	4	53	4	PNPLA4	23	7868777	Missense_Mutation	SNP	C	TCGA-CN-6022-01A-21D-1683-08		7868777	147401783	91	19520											
YY2	404281	broad.mit.edu	37	chrX	21875473	21875473	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgtgcagaatgtggcaaaGcttttcttgagagctcaaag	12	12	11	6	0	2	2	1	1	1	2	2	3	2	2	0	1	3	4	0	1	4	4			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chrX:21875473G>C	ENST00000429584.2	+	1	1369	c.871G>C	c.(871-873)Gct>Cct	p.A291P	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	291	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ATGTGGCAAAGCTTTTCTTGA	0.537													52	82					0	0	0	0	C	21875473	G	C	21875473	3	2	101	1	0	0	0	0	1	0	0	0	17605	971	34	4	873	4	YY2	23	21875473	Missense_Mutation	SNP	G	TCGA-CN-6022-01A-21D-1683-08	14006696	21875473	133395087	92	19521											
AGRN	375790	broad.mit.edu	37	chr1	982024	982024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgcacccagcctggtGgcgtccgcctttggtgaatc	4	10	11	16	2	0	1	0	1	0	0	3	1	2	1	6	3	2	1	6	3	1	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:982024G>A	ENST00000379370.2	+	18	3209	c.3159G>A	c.(3157-3159)gtG>gtA	p.V1053V		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1053	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCAGCCTGGTGGCGTCCGCCT	0.687													11	10					0	0	0	0	A	982024	G	A	982024	2	1	102	1	0	0	0	0	0	0	0	1	397	1335	47	4		4	AGRN	1	982024	Silent	SNP	G	TCGA-CN-6023-01A-11D-1683-08		982024	248268597	1	19522											
NMNAT1	64802	broad.mit.edu	37	chr1	10042404	10042404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggggcagatttattggagtCctttgctgttcccaatttgt	6	17	11	7	0	0	1	0	0	0	1	2	2	2	2	2	3	1	3	2	3	2	6			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:10042404C>T	ENST00000377205.1	+	5	629	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	162					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		TTATTGGAGTCCTTTGCTGTT	0.478													24	87					0	0	0	0	T	10042404	C	T	10042404	3	4	102	1	0	0	0	0	1	0	0	0	10568	855	30	2	499	2	NMNAT1	1	10042404	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	9060380	10042404	239208217	2	19523											
ZMYM6	9204	broad.mit.edu	37	chr1	35476586	35476586	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttacaaccacttggccctGagacaggggcaccgccgaag	10	5	12	14	2	0	1	0	1	0	1	0	3	0	1	4	3	2	2	4	3	3	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:35476586G>A	ENST00000357182.4	-	9	1341	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.Q372*|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.Q372*	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	372					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				ACTTGGCCCTGAGACAGGGGC	0.488													12	48					0	0	0	0	A	35476586	G	A	35476586	4	1	102	1	0	0	0	0	0	1	0	0	17799	1299	45	2	2895	2	ZMYM6	1	35476586	Nonsense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	25434182	35476586	213774035	3	19524											
MYSM1	114803	broad.mit.edu	37	chr1	59147830	59147830	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgtttctcagtccacaGtgtaatttctgagcttgaaa	9	15	8	9	0	3	2	1	2	3	0	5	2	4	2	1	0	1	4	1	0	2	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:59147830G>A	ENST00000472487.1	-	8	925	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	296					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TCAGTCCACAGTGTAATTTCT	0.363													13	109					0	0	0	0	A	59147830	G	A	59147830	2	1	102	1	0	0	0	0	0	0	0	1	10171	1020	36	4		4	MYSM1	1	59147830	Silent	SNP	G	TCGA-CN-6023-01A-11D-1683-08	23671244	59147830	190102791	4	19525											
ADIPOR1	51094	broad.mit.edu	37	chr1	202915728	202915728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgggatgaccctccaacgtCcctcccagacctagaacata	12	7	7	15	1	0	3	0	1	0	2	3	4	3	4	5	1	2	0	5	1	4	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:202915728C>T	ENST00000340990.5	-	4	567	c.269G>A	c.(268-270)gGa>gAa	p.G90E	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.G90E|ADIPOR1_ENST00000367254.3_Missense_Mutation_p.G90E	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	90					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCTCCAACGTCCCTCCCAGAC	0.502													9	44					0	0	0	0	T	202915728	C	T	202915728	3	4	102	1	0	0	0	0	1	0	0	0	318	855	30	2	878	2	ADIPOR1	1	202915728	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	143767898	202915728	46334893	5	19526											
OBSCN	84033	broad.mit.edu	37	chr1	228557643	228557643	+	Splice_Site	SNP	C	C	G																															gaccctccctctgtcttcagCctgacctgctcatccccatt																										TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:228557643C>G	ENST00000570156.2	+	102	22913	c.22838_splice	c.e102-1	p.S7613_splice	OBSCN_ENST00000366707.4_Splice_Site_p.S4290_splice|OBSCN_ENST00000422127.1_Splice_Site_p.S6656_splice	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6656	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGTCTTCAGCCTGACCTGCT	0.622													45	36					0	0	0	0	G	228557643	C	G	228557643	5	3	102	1	0	0	0	0	0	0	1	0	10883	753	26	4	21536	4	OBSCN	1	228557643	Splice_Site	SNP	C	TCGA-CN-6023-01A-11D-1683-08	25641915	228557643	20692978	6	19527	157	2									
OBSCN	84033	broad.mit.edu	37	chr1	228557645	228557645	+	Missense_Mutation	SNP	T	T	G																															ccctccctctgtcttcagccTgacctgctcatccccatttg																										TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:228557645T>G	ENST00000570156.2	+	102	22915	c.22841T>G	c.(22840-22842)cTg>cGg	p.L7614R	OBSCN_ENST00000366707.4_Missense_Mutation_p.L4291R|OBSCN_ENST00000422127.1_Missense_Mutation_p.L6657R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6657	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCTTCAGCCTGACCTGCTCA	0.622													46	37					0	0	0	0	G	228557645	T	G	228557645	3	3	102	1	0	0	0	0	1	0	0	0	10883	1580	55	5	21538	5	OBSCN	1	228557645	Missense_Mutation	SNP	T	TCGA-CN-6023-01A-11D-1683-08	2	228557645	20692976	7	19528	157	2									
NT5C1B	93034	broad.mit.edu	37	chr2	18767631	18767631	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtaccctcgagagtctgtCttccgcagtgatgattcttg	7	13	11	10	2	3	3	0	2	3	1	5	4	4	3	2	1	1	2	2	1	1	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:18767631C>T	ENST00000304081.4	-	3	247	c.147G>A	c.(145-147)aaG>aaA	p.K49K	NT5C1B_ENST00000600945.1_Silent_p.K109K|NT5C1B-RDH14_ENST00000532967.1_Silent_p.K109K|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000359846.2_Silent_p.K109K	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GAGAGTCTGTCTTCCGCAGTG	0.498													6	46					0	0	0	0	T	18767631	C	T	18767631	2	4	102	1	0	0	0	0	0	0	0	1	10757	912	32	2		2	NT5C1B	2	18767631	Silent	SNP	C	TCGA-CN-6023-01A-11D-1683-08		18767631	224431742	8	19529											
HADHA	3030	broad.mit.edu	37	chr2	26438045	26438045	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggttttagtcctggtcCtataaaaatgaatgcaacac	13	12	9	7	0	0	1	0	1	0	0	2	2	2	2	2	3	2	2	2	3	7	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:26438045C>T	ENST00000380649.3	-	8	806		c.e8-1		HADHA_ENST00000457468.2_Splice_Site	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit						fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	AGTCCTGGTCCTATAAAAATG	0.438													23	105					0	0	0	0	T	26438045	C	T	26438045	5	4	102	1	0	0	0	0	0	0	1	0	6993	695	24	4	1667	4	HADHA	2	26438045	Splice_Site	SNP	C	TCGA-CN-6023-01A-11D-1683-08	7670414	26438045	216761328	9	19530											
ALK	238	broad.mit.edu	37	chr2	29456500	29456500	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcacgcttctgttcacAcggatttcttcttctatcac	7	16	5	13	2	7	0	3	0	4	0	7	1	7	1	0	1	1	3	0	1	1	6			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:29456500A>T	ENST00000389048.3	-	14	3324	c.2418T>A	c.(2416-2418)cgT>cgA	p.R806R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	806					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R806R(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTCTGTTCACACGGATTTCTT	0.488			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				26	70					0	0	0	0	T	29456500	A	T	29456500	2	4	102	1	0	0	0	0	0	0	0	1	525	146	6	5		5	ALK	2	29456500	Silent	SNP	A	TCGA-CN-6023-01A-11D-1683-08	3018455	29456500	213742873	10	19531											
ALMS1	7840	broad.mit.edu	37	chr2	73717132	73717132	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggacccttggctgtcagaAttagtagaacctgcttttgt	9	14	10	8	0	1	2	1	0	0	2	1	3	1	3	2	2	2	3	2	2	4	5			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:73717132A>G	ENST00000264448.6	+	10	8154	c.8043A>G	c.(8041-8043)gaA>gaG	p.E2681E	ALMS1_ENST00000409009.1_Silent_p.E2639E	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2681					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGCTGTCAGAATTAGTAGAAC	0.403													24	143					0	0	0	0	G	73717132	A	G	73717132	2	3	102	1	0	0	0	0	0	0	0	1	535	98	4	5		5	ALMS1	2	73717132	Silent	SNP	A	TCGA-CN-6023-01A-11D-1683-08	44260632	73717132	169482241	11	19532											
TSGA10	80705	broad.mit.edu	37	chr2	99726007	99726007	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttattttgtgctttttcagTatctaaaattatcttgccaa	10	21	4	6	0	3	0	1	0	2	0	3	0	3	0	1	0	2	2	1	0	6	10			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:99726007T>C	ENST00000410001.1	-	0	523				TSGA10_ENST00000393483.3_Intron|TSGA10_ENST00000542655.1_Intron|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_De_novo_Start_OutOfFrame|TSGA10_ENST00000355053.4_Intron			Q9BZW7	TSG10_HUMAN	testis specific, 10						spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GCTTTTTCAGTATCTAAAATT	0.318													6	13					0	0	0	0	C	99726007	T	C	99726007	1	2	102	1	0	0	0	0	0	0	0	0	16712	1653	57	5		5	TSGA10	2	99726007	Translation_Start_Site	SNP	T	TCGA-CN-6023-01A-11D-1683-08	26008875	99726007	143473366	12	19533											
SLC9A2	6549	broad.mit.edu	37	chr2	103321047	103321047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgacagccgacacaagtgaGagacaagccaaggagattct	15	5	11	10	1	1	4	0	2	1	2	1	7	1	4	2	1	2	0	2	1	3	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:103321047G>C	ENST00000233969.2	+	10	2032	c.1890G>C	c.(1888-1890)gaG>gaC	p.E630D		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	630						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACACAAGTGAGAGACAAGCCA	0.428													5	28					0	0	0	0	C	103321047	G	C	103321047	3	2	102	1	0	0	0	0	1	0	0	0	14800	933	33	2	1928	2	SLC9A2	2	103321047	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	3595040	103321047	139878326	13	19534											
GCC2	9648	broad.mit.edu	37	chr2	109088215	109088215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgatgaaaaagtattagaGttagaaaaagagattaagtg	19	10	11	1	1	0	5	0	2	0	3	0	6	0	5	0	0	0	2	0	0	8	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:109088215G>C	ENST00000309863.6	+	6	3144	c.2430G>C	c.(2428-2430)gaG>gaC	p.E810D		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	810					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAGTATTAGAGTTAGAAAAAG	0.363													18	55					0	0	0	0	C	109088215	G	C	109088215	3	2	102	1	0	0	0	0	1	0	0	0	6335	1020	36	4	2452	4	GCC2	2	109088215	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	5767168	109088215	134111158	14	19535											
TTN	7273	broad.mit.edu	37	chr2	179459274	179459275	+	Frame_Shift_Ins	INS	-	-	T																															ttctaggacatagttaataaINStttctgacccaccatcatac																										TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:179459274_179459275insT	ENST00000589042.1	-	296	58170_58171	c.57946_57947insA	c.(57946-57948)tatfs	p.Y19316fs	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.Y16748fs|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.Y10443fs|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.Y17675fs|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.Y10376fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.Y10251fs|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17675							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)			ATAGTTAATAATTTCTGACCCA	0.391													41	58	---	---	---	---					T	179459275	-	T	179459274	7	5	102	1	0	1	1	0	0	0	0	0	16831	101	4	0	50300	0	TTN	2	179459274	Frame_Shift_Ins	INS	-	TCGA-CN-6023-01A-11D-1683-08	70371059	179459274	63740099	15	19536											
LMCD1	29995	broad.mit.edu	37	chr3	8579047	8579047	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaccggatgatcatgaccaAccctattgctactgggaaag	13	8	10	10	1	1	2	1	2	0	0	1	5	1	4	3	2	4	1	3	2	5	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:8579047A>G	ENST00000157600.3	+	3	540	c.308A>G	c.(307-309)aAc>aGc	p.N103S	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000535732.1_Missense_Mutation_p.N103S|LMCD1_ENST00000454244.1_Missense_Mutation_p.N30S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	103	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		ATCATGACCAACCCTATTGCT	0.552													10	138					0	0	0	0	G	8579047	A	G	8579047	3	3	102	1	0	0	0	0	1	0	0	0	8899	43	2	5	318	5	LMCD1	3	8579047	Missense_Mutation	SNP	A	TCGA-CN-6023-01A-11D-1683-08		8579047	189443383	16	19537											
ZNF445	353274	broad.mit.edu	37	chr3	44488834	44488834	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactctctgatggatgaggaGgaatgagtgattgcggaagg	12	9	16	4	1	1	4	0	4	1	0	2	8	1	8	0	5	2	0	0	5	3	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:44488834G>C	ENST00000425708.2	-	7	2670	c.2329C>G	c.(2329-2331)Ctc>Gtc	p.L777V	ZNF445_ENST00000396077.2_Missense_Mutation_p.L777V			P59923	ZN445_HUMAN	zinc finger protein 445	777					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGGATGAGGAGGAATGAGTGA	0.512													21	20					0	0	0	0	C	44488834	G	C	44488834	3	2	102	1	0	0	0	0	1	0	0	0	18013	1000	35	4	770	4	ZNF445	3	44488834	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	35909787	44488834	153533596	17	19538											
CCDC36	339834	broad.mit.edu	37	chr3	49293597	49293597	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttatagaaatgaagtccAacctgaagcaccttgaagtt	15	11	8	7	0	0	4	0	3	0	1	1	4	1	4	3	0	2	3	3	0	7	5			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:49293597A>G	ENST00000438782.1	+	8	903	c.667A>G	c.(667-669)Aac>Gac	p.N223D	CCDC36_ENST00000452691.2_Missense_Mutation_p.N223D|CCDC36_ENST00000296449.5_Missense_Mutation_p.N223D			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	223										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AATGAAGTCCAACCTGAAGCA	0.473													34	58					0	0	0	0	G	49293597	A	G	49293597	3	3	102	1	0	0	0	0	1	0	0	0	2834	130	5	5	693	5	CCDC36	3	49293597	Missense_Mutation	SNP	A	TCGA-CN-6023-01A-11D-1683-08	4804763	49293597	148728833	18	19539											
A4GNT	51146	broad.mit.edu	37	chr3	137843343	137843343	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccactctcgataggagatGgggtaaaatctttgggggtg	9	11	14	7	1	2	1	0	0	2	1	4	3	3	1	1	5	0	1	1	5	3	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:137843343G>T	ENST00000236709.3	-	3	987	c.786C>A	c.(784-786)ccC>ccA	p.P262P		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	262					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GATAGGAGATGGGGTAAAATC	0.483													11	79					0.000151284	0.000160242	1	0	T	137843343	G	T	137843343	2	4	102	1	0	0	0	0	0	0	0	1	7	1335	47	4		4	A4GNT	3	137843343	Silent	SNP	G	TCGA-CN-6023-01A-11D-1683-08	88549746	137843343	60179087	19	19540											
MRPS22	56945	broad.mit.edu	37	chr3	139067116	139067116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataagattttggaaggaacaGaaacaaccaaatatgtgttt	18	11	8	4	0	0	2	0	0	0	2	0	4	0	4	1	2	3	1	1	2	7	5			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:139067116G>A	ENST00000495075.1	+	5	886	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	MRPS22_ENST00000478464.1_Missense_Mutation_p.E111K|MRPS22_ENST00000465056.1_Missense_Mutation_p.E151K|MRPS22_ENST00000310776.4_Missense_Mutation_p.E152K			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	152						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GGAAGGAACAGAAACAACCAA	0.363													38	73					0	0	0	0	A	139067116	G	A	139067116	3	1	102	1	0	0	0	0	1	0	0	0	9903	943	33	2	464	2	MRPS22	3	139067116	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	1223773	139067116	58955314	20	19541											
ATR	545	broad.mit.edu	37	chr3	142168296	142168296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatatggagtccaaccaagaTacatctggcatagtaagttt	14	12	8	7	0	1	1	0	0	1	1	2	2	2	2	2	2	2	3	2	2	7	6			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:142168296T>C	ENST00000350721.4	-	47	8031	c.7910A>G	c.(7909-7911)tAt>tGt	p.Y2637C	ATR_ENST00000383101.3_Missense_Mutation_p.Y2573C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2637	FATC.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCAACCAAGATACATCTGGCA	0.338								Other conserved DNA damage response genes					15	91					0	0	0	0	C	142168296	T	C	142168296	3	2	102	1	0	0	0	0	1	0	0	0	1208	1406	49	5	28	5	ATR	3	142168296	Missense_Mutation	SNP	T	TCGA-CN-6023-01A-11D-1683-08	3101180	142168296	55854134	21	19542											
SI	6476	broad.mit.edu	37	chr3	164786949	164786949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaataagagagtcattccacGgcctccagcagcagcctctc	11	7	9	14	1	2	1	1	0	1	1	5	3	4	1	4	1	3	2	4	1	2	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:164786949G>A	ENST00000264382.3	-	4	352	c.290C>T	c.(289-291)cCg>cTg	p.P97L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	97	P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCATTCCACGGCCTCCAGCA	0.373										HNSCC(35;0.089)			6	48					0	0	0	0	A	164786949	G	A	164786949	3	1	102	1	0	0	0	0	1	0	0	0	14385	1116	39	1	5373	1	SI	3	164786949	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	22618653	164786949	33235481	22	19543											
MASP1	5648	broad.mit.edu	37	chr3	187003846	187003846	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatagagaagcagccaccTgaaagacatgaatgtaggtc	17	7	10	7	0	0	4	0	2	0	2	1	5	0	4	2	1	2	2	2	1	6	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:187003846T>A	ENST00000337774.5	-	2	395		c.e2-2		MASP1_ENST00000392470.2_Splice_Site|MASP1_ENST00000392472.2_Intron|MASP1_ENST00000296280.6_Splice_Site|MASP1_ENST00000169293.6_Splice_Site|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGCAGCCACCTGAAAGACATG	0.478													13	39					0	0	0	0	A	187003846	T	A	187003846	5	1	102	1	0	0	0	0	0	0	1	0	9391	1594	55	5	3100	5	MASP1	3	187003846	Splice_Site	SNP	T	TCGA-CN-6023-01A-11D-1683-08	22216897	187003846	11018584	23	19544											
ATP13A4	84239	broad.mit.edu	37	chr3	193175175	193175175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagcagggcttacctggctgGctgttctgcagggcttaact	7	11	13	10	0	1	0	0	0	1	0	1	0	1	0	1	4	4	7	1	4	3	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:193175175G>C	ENST00000342695.4	-	15	2076	c.1754C>G	c.(1753-1755)gCc>gGc	p.A585G	ATP13A4_ENST00000392443.3_Missense_Mutation_p.A566G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	585					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TACCTGGCTGGCTGTTCTGCA	0.483													19	281					0	0	0	0	C	193175175	G	C	193175175	3	2	102	1	0	0	0	0	1	0	0	0	1130	1203	42	4	1900	4	ATP13A4	3	193175175	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	6171329	193175175	4847255	24	19545											
LRCH3	84859	broad.mit.edu	37	chr3	197585726	197585726	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtcagggttgaatcaaGtgggctgtgctgctaccctg	6	11	14	10	1	2	1	2	1	0	0	2	1	2	1	1	2	3	5	1	2	3	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:197585726G>C	ENST00000438796.2	+	15	1710	c.1666G>C	c.(1666-1668)Gtg>Ctg	p.V556L	LRCH3_ENST00000441090.2_Missense_Mutation_p.V402L|LRCH3_ENST00000334859.4_Missense_Mutation_p.V556L|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000536618.1_Missense_Mutation_p.V151L|LRCH3_ENST00000425562.2_Missense_Mutation_p.V556L			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	556						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GTTGAATCAAGTGGGCTGTGC	0.453													40	134					0	0	0	0	C	197585726	G	C	197585726	3	2	102	1	0	0	0	0	1	0	0	0	8998	1029	36	4	1724	4	LRCH3	3	197585726	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	4410551	197585726	436704	25	19546											
PPARGC1A	10891	broad.mit.edu	37	chr4	23830203	23830203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgacaaatactcttcgCtttattgctccatgaattct	9	17	5	10	1	2	2	0	2	2	0	4	2	3	2	1	0	2	3	1	0	4	7			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr4:23830203C>T	ENST00000264867.2	-	5	696	c.577G>A	c.(577-579)Gcg>Acg	p.A193T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	193					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATACTCTTCGCTTTATTGCTC	0.413													3	87					0	0	0	0	T	23830203	C	T	23830203	3	4	102	1	0	0	0	0	1	0	0	0	12371	797	28	4	1855	4	PPARGC1A	4	23830203	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08		23830203	167324073	26	19547											
COX18	285521	broad.mit.edu	37	chr4	73930982	73930982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attaccttctgaatgtgctgCccccgtgcttaaattccgga	8	13	8	12	2	1	1	0	1	1	0	2	2	2	2	4	1	4	2	4	1	4	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr4:73930982C>A	ENST00000295890.4	-	3	674	c.583G>T	c.(583-585)Gca>Tca	p.A195S	COX18_ENST00000507544.2_Missense_Mutation_p.A195S	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	195					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAATGTGCTGCCCCCGTGCTT	0.378													17	30					2.35188e-11	2.70466e-11	1	0	A	73930982	C	A	73930982	3	1	102	1	0	0	0	0	1	0	0	0	3797	739	26	4	434	4	COX18	4	73930982	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	50100779	73930982	117223294	27	19548											
SEC24B	10427	broad.mit.edu	37	chr4	110384711	110384711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacagtactctaacgtggtCatctccaggccttccatcga	10	11	7	13	2	3	0	1	0	2	0	6	1	4	0	3	2	3	1	3	2	3	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr4:110384711C>T	ENST00000265175.5	+	2	843	c.788C>T	c.(787-789)tCa>tTa	p.S263L	SEC24B_ENST00000504968.2_Missense_Mutation_p.S294L|SEC24B_ENST00000399100.2_Missense_Mutation_p.S263L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	263					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTAACGTGGTCATCTCCAGGC	0.488													20	40					0	0	0	0	T	110384711	C	T	110384711	3	4	102	1	0	0	0	0	1	0	0	0	14082	838	29	2	794	2	SEC24B	4	110384711	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	36453729	110384711	80769565	28	19549											
RAI14	26064	broad.mit.edu	37	chr5	34823598	34823598	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaagtgaaagaaataaaGagaaagtgagagagttagag	23	5	13	0	0	0	7	0	2	0	5	0	9	0	7	0	0	0	1	0	0	8	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr5:34823598G>C	ENST00000265109.3	+	15	1938	c.1651G>C	c.(1651-1653)Gag>Cag	p.E551Q	RAI14_ENST00000503673.1_Missense_Mutation_p.E551Q|RAI14_ENST00000397449.1_Missense_Mutation_p.E544Q|RAI14_ENST00000506376.1_Missense_Mutation_p.E543Q|RAI14_ENST00000428746.2_Missense_Mutation_p.E551Q|RAI14_ENST00000512629.1_Missense_Mutation_p.E522Q|RAI14_ENST00000515799.1_Missense_Mutation_p.E554Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	551						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					aagaaataaagagaaagtgag	0.393													3	44					0	0	0	0	C	34823598	G	C	34823598	3	2	102	1	0	0	0	0	1	0	0	0	13090	943	33	2	1770	2	RAI14	5	34823598	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08		34823598	146091662	29	19550											
RASA1	5921	broad.mit.edu	37	chr5	86670020	86670020	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgaagaagcccataaacTcccagtaaaacattttacta	17	11	4	9	0	0	2	0	1	0	1	1	2	1	2	2	0	4	1	2	0	9	7			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr5:86670020T>A	ENST00000456692.2	+	14	1401	c.1286T>A	c.(1285-1287)cTc>cAc	p.L429H	RASA1_ENST00000512763.1_Missense_Mutation_p.L439H|RASA1_ENST00000274376.6_Missense_Mutation_p.L606H|RASA1_ENST00000506290.1_Missense_Mutation_p.L440H	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	606	SH2 2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GCCCATAAACTCCCAGTAAAA	0.333													7	11					0	0	0	0	A	86670020	T	A	86670020	3	1	102	1	0	0	0	0	1	0	0	0	13142	1551	54	5	1883	5	RASA1	5	86670020	Missense_Mutation	SNP	T	TCGA-CN-6023-01A-11D-1683-08	51846422	86670020	94245240	30	19551											
RAD50	10111	broad.mit.edu	37	chr5	131915747	131915747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctatgagaatgaacttGatccattgaaggtaacttga	15	12	8	6	0	0	5	0	5	0	1	2	6	2	5	2	1	2	1	2	1	6	5			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr5:131915747G>T	ENST00000378823.3	+	5	1146	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	RAD50_ENST00000487596.1_3'UTR|RAD50_ENST00000265335.6_Missense_Mutation_p.D249Y	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	249					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAATGAACTTGATCCATTGAA	0.308								Homologous recombination					8	45					5.18039e-06	5.56029e-06	1	0	T	131915747	G	T	131915747	3	4	102	1	0	0	0	0	1	0	0	0	13066	1290	45	2	763	2	RAD50	5	131915747	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	45245727	131915747	48999513	31	19552											
SIL1	64374	broad.mit.edu	37	chr5	138362615	138362615	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctcaatgacaacattcaGctcatcaaagtctttcttca	13	13	4	11	0	7	1	5	1	3	0	8	1	7	1	0	0	2	1	0	0	3	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr5:138362615G>C	ENST00000394817.2	-	6	659	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	SIL1_ENST00000265195.5_Missense_Mutation_p.L174V|SIL1_ENST00000509534.1_Missense_Mutation_p.L181V|CTB-46B19.2_ENST00000512875.2_RNA	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	174	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACAACATTCAGCTCATCAAAG	0.468									Marinesco-Sjgren syndrome				9	40					0	0	0	0	C	138362615	G	C	138362615	3	2	102	1	0	0	0	0	1	0	0	0	14409	962	34	4	885	4	SIL1	5	138362615	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	6446868	138362615	42552645	32	19553											
HIVEP1	3096	broad.mit.edu	37	chr6	12125603	12125603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagtgaattgcaggaatttGaaaacatcaagtcatccaca	17	10	7	7	0	2	2	2	2	0	0	3	3	3	3	1	1	2	1	1	1	6	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:12125603G>A	ENST00000379388.2	+	4	5907	c.5575G>A	c.(5575-5577)Gaa>Aaa	p.E1859K		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1859					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCAGGAATTTGAAAACATCAA	0.338													37	44					0	0	0	0	A	12125603	G	A	12125603	3	1	102	1	0	0	0	0	1	0	0	0	7236	1291	45	2	5585	2	HIVEP1	6	12125603	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08		12125603	158989464	33	19554											
ABCF1	23	broad.mit.edu	37	chr6	30547713	30547713	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtgtctcctccaggccgtAtctgaggaacagcagcctgc	7	9	12	13	1	2	1	0	1	2	0	4	2	3	2	4	2	4	2	4	2	2	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:30547713A>G	ENST00000326195.8	+	7	607	c.495A>G	c.(493-495)gtA>gtG	p.V165V	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.V165V	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	165	Glu-rich.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCCAGGCCGTATCTGAGGAAC	0.433													7	8					0	0	0	0	G	30547713	A	G	30547713	2	3	102	1	0	0	0	0	0	0	0	1	65	436	16	5		5	ABCF1	6	30547713	Silent	SNP	A	TCGA-CN-6023-01A-11D-1683-08	18422110	30547713	140567354	34	19555											
COL21A1	81578	broad.mit.edu	37	chr6	55922598	55922598	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgccagggagacctgggtCtcctggaggaccttctttgc	5	12	13	11	0	2	1	0	0	2	1	3	4	2	3	4	4	2	0	4	4	0	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:55922598C>G	ENST00000244728.5	-	30	3128	c.2731G>C	c.(2731-2733)Gac>Cac	p.D911H	COL21A1_ENST00000370808.2_Missense_Mutation_p.D277H|COL21A1_ENST00000535941.1_Missense_Mutation_p.D911H|COL21A1_ENST00000370819.1_Missense_Mutation_p.D908H|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	911					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGACCTGGGTCTCCTGGAGGA	0.498													8	11					0	0	0	0	G	55922598	C	G	55922598	3	3	102	1	0	0	0	0	1	0	0	0	3710	913	32	2	146	2	COL21A1	6	55922598	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	25374885	55922598	115192469	35	19556											
BCLAF1	9774	broad.mit.edu	37	chr6	136582553	136582553	+	Frame_Shift_Del	DEL	A	A	-																															aagcgccctctgccacgttgAaaagtaccacgacctcttcc																										TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:136582553delA	ENST00000531224.1	-	12	2859	c.2607delT	c.(2605-2607)ttfs	p.F869fs	BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.F867fs|BCLAF1_ENST00000031135.9_Frame_Shift_Del_p.F87fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.F818fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.F818fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.F820fs|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.F696fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	869					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGCCACGTTGAAAAGTACCAC	0.413													18	256	---	---	---	---					-	136582553	A	-	136582553	7	5	102	1	0	1	0	1	0	0	0	0	1387	243	9	0	163	0	BCLAF1	6	136582553	Frame_Shift_Del	DEL	A	TCGA-CN-6023-01A-11D-1683-08	80659955	136582553	34532514	36	19557											
ECT2L	345930	broad.mit.edu	37	chr6	139223693	139223693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaatggatttgtgctacaGaaatagaggatgataagttc	16	12	10	3	0	0	3	0	1	0	2	1	5	0	5	0	2	2	2	0	2	6	6			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:139223693G>A	ENST00000423192.1	+	21	2805	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K	ECT2L_ENST00000367682.2_Missense_Mutation_p.E882K|ECT2L_ENST00000541398.1_Missense_Mutation_p.E736K			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	882					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TTGTGCTACAGAAATAGAGGA	0.368			"N, Splice, Mis"		ETP ALL								12	37					0	0	0	0	A	139223693	G	A	139223693	3	1	102	1	0	0	0	0	1	0	0	0	4938	943	33	2	2722	2	ECT2L	6	139223693	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	2641140	139223693	31891374	37	19558											
RGS17	26575	broad.mit.edu	37	chr6	153347672	153347672	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctttcttcattcctcacAgtgaggctgtaatgtaacag	9	14	7	11	0	4	1	2	1	2	0	5	1	5	1	2	1	1	3	2	1	2	5			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:153347672A>T	ENST00000367225.2	-	2	150	c.126T>A	c.(124-126)acT>acA	p.T42T	RGS17_ENST00000206262.1_Silent_p.T42T			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	42					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		CATTCCTCACAGTGAGGCTGT	0.403													26	59					0	0	0	0	T	153347672	A	T	153347672	2	4	102	1	0	0	0	0	0	0	0	1	13382	175	7	5		5	RGS17	6	153347672	Silent	SNP	A	TCGA-CN-6023-01A-11D-1683-08	14123979	153347672	17767395	38	19559											
ITGB8	3696	broad.mit.edu	37	chr7	20441678	20441678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtcacaaaattaagcttgGaaaagtgtatggaaaatact	18	11	8	4	0	1	0	1	0	0	0	1	2	1	2	0	2	2	2	0	2	9	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:20441678G>T	ENST00000222573.3	+	10	2300	c.1616G>T	c.(1615-1617)gGa>gTa	p.G539V	ITGB8_ENST00000537992.1_Missense_Mutation_p.G404V	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	539	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ATTAAGCTTGGAAAAGTGTAT	0.388													28	101					5.77227e-19	6.73432e-19	1	0	T	20441678	G	T	20441678	3	4	102	1	0	0	0	0	1	0	0	0	7954	1174	41	2	1654	2	ITGB8	7	20441678	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08		20441678	138696985	39	19560											
KLHL7	55975	broad.mit.edu	37	chr7	23191773	23191773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaagaaacatgactaccGcatagccctatttggaggct	15	8	9	9	1	0	3	0	1	0	2	0	4	0	4	2	2	3	2	2	2	6	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:23191773G>A	ENST00000322231.7	+	8	1305	c.815G>A	c.(814-816)cGc>cAc	p.R272H	KLHL7_ENST00000545443.1_Missense_Mutation_p.R272H|KLHL7_ENST00000339077.4_Missense_Mutation_p.R294H|KLHL7_ENST00000409689.1_Missense_Mutation_p.R246H|KLHL7_ENST00000542558.1_Missense_Mutation_p.R69H|KLHL7_ENST00000539124.1_Missense_Mutation_p.R218H			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	294						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATGACTACCGCATAGCCCTA	0.388													9	52					0	0	0	0	A	23191773	G	A	23191773	3	1	102	1	0	0	0	0	1	0	0	0	8446	1087	38	1	970	1	KLHL7	7	23191773	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	2750095	23191773	135946890	40	19561											
PURB	5814	broad.mit.edu	37	chr7	44924293	44924293	+	Missense_Mutation	SNP	G	G	A																															gatggaggtgccctccgggaGctctccatacaggccgcccc																										TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:44924293G>A	ENST00000395699.2	-	1	667	c.655C>T	c.(655-657)Ctc>Ttc	p.L219F		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	219	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						CCCTCCGGGAGCTCTCCATAC	0.667													15	50					0	0	0	0	A	44924293	G	A	44924293	3	1	102	1	0	0	0	0	1	0	0	0	12910	971	34	4	287	4	PURB	7	44924293	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	21732520	44924293	114214370	41	19562	158	2									
PURB	5814	broad.mit.edu	37	chr7	44924294	44924294	+	Missense_Mutation	SNP	C	C	A																															atggaggtgccctccgggagCtctccatacaggccgccccc																										TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:44924294C>A	ENST00000395699.2	-	1	666	c.654G>T	c.(652-654)gaG>gaT	p.E218D		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	218	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						CCTCCGGGAGCTCTCCATACA	0.667													14	50					4.3838e-07	4.76886e-07	1	0	A	44924294	C	A	44924294	3	1	102	1	0	0	0	0	1	0	0	0	12910	796	28	4	288	4	PURB	7	44924294	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	1	44924294	114214369	42	19563	158	2									
FZD1	8321	broad.mit.edu	37	chr7	90895177	90895177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggattggcatttggtcaGtgctgtgctgcgcctccacg	4	12	13	12	2	1	0	1	0	0	0	2	1	2	1	3	3	3	3	3	3	0	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:90895177G>C	ENST00000287934.2	+	1	1395	c.982G>C	c.(982-984)Gtg>Ctg	p.V328L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	328					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CATTTGGTCAGTGCTGTGCTG	0.627													15	87					0	0	0	0	C	90895177	G	C	90895177	3	2	102	1	0	0	0	0	1	0	0	0	6176	1029	36	4	984	4	FZD1	7	90895177	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	45970883	90895177	68243486	43	19564											
LMTK2	22853	broad.mit.edu	37	chr7	97816267	97816267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattagtaaccagctttcaaGacagactgctaactgcagat	15	10	7	9	0	1	3	1	0	0	3	1	3	1	3	1	0	5	4	1	0	5	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:97816267G>A	ENST00000297293.5	+	9	1248	c.955G>A	c.(955-957)Gac>Aac	p.D319N		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	319	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCTTTCAAGACAGACTGCT	0.373													11	100					0	0	0	0	A	97816267	G	A	97816267	3	1	102	1	0	0	0	0	1	0	0	0	8914	942	33	2	989	2	LMTK2	7	97816267	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	6921090	97816267	61322396	44	19565											
TRRAP	8295	broad.mit.edu	37	chr7	98535316	98535316	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgatcaaatccacacacAtatgcgacctttgctgatga	13	10	7	11	2	1	2	1	2	0	0	3	4	2	2	2	0	2	1	2	0	2	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:98535316A>T	ENST00000359863.4	+	30	4486	c.4277A>T	c.(4276-4278)cAt>cTt	p.H1426L	TRRAP_ENST00000355540.3_Missense_Mutation_p.H1426L|TRRAP_ENST00000446306.3_Missense_Mutation_p.H1425L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1426					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCCACACACATATGCGACCT	0.413													11	69					0	0	0	0	T	98535316	A	T	98535316	3	4	102	1	0	0	0	0	1	0	0	0	16696	217	8	5	4391	5	TRRAP	7	98535316	Missense_Mutation	SNP	A	TCGA-CN-6023-01A-11D-1683-08	719049	98535316	60603347	45	19566											
PTPRZ1	5803	broad.mit.edu	37	chr7	121636535	121636535	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcgtttatgataccatgaTtgagaagtttgcagttttgt	10	17	10	4	1	0	3	0	3	0	1	1	4	0	3	1	0	2	4	1	0	3	7			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:121636535T>C	ENST00000393386.2	+	9	1439	c.1028T>C	c.(1027-1029)aTt>aCt	p.I343T	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I343T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	343	Fibronectin type-III.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GATACCATGATTGAGAAGTTT	0.408													4	98					0	0	0	0	C	121636535	T	C	121636535	3	2	102	1	0	0	0	0	1	0	0	0	12896	1493	52	5	1062	5	PTPRZ1	7	121636535	Missense_Mutation	SNP	T	TCGA-CN-6023-01A-11D-1683-08	23101219	121636535	37502128	46	19567											
RNF133	168433	broad.mit.edu	37	chr7	122338545	122338545	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcttcaaatgcctgatgaAacatggggaacacctggttg	12	10	10	9	0	2	2	1	2	1	0	2	3	2	3	2	3	3	1	2	3	3	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:122338545A>C	ENST00000340112.2	-	1	665	c.428T>G	c.(427-429)tTt>tGt	p.F143C	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	143	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TGCCTGATGAAACATGGGGAA	0.423													32	58					0	0	0	0	C	122338545	A	C	122338545	3	2	102	1	0	0	0	0	1	0	0	0	13524	14	1	5	706	5	RNF133	7	122338545	Missense_Mutation	SNP	A	TCGA-CN-6023-01A-11D-1683-08	702010	122338545	36800118	47	19568											
KLHDC10	23008	broad.mit.edu	37	chr7	129761910	129761910	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggctatggccatcatcaAtggctccctttatgtctttg	7	14	8	12	0	3	0	2	0	1	0	4	0	4	0	3	3	0	2	3	3	3	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:129761910A>G	ENST00000335420.5	+	5	781	c.647A>G	c.(646-648)aAt>aGt	p.N216S		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	216										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						GCCATCATCAATGGCTCCCTT	0.418													7	32					0	0	0	0	G	129761910	A	G	129761910	3	3	102	1	0	0	0	0	1	0	0	0	8407	101	4	5	665	5	KLHDC10	7	129761910	Missense_Mutation	SNP	A	TCGA-CN-6023-01A-11D-1683-08	7423365	129761910	29376753	48	19569											
AKR1B1	231	broad.mit.edu	37	chr7	134135632	134135632	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggctcctttcaccaggcccTtctcatggtacgtgcaccac	7	10	8	16	1	2	0	2	0	1	0	4	0	3	0	4	3	2	3	4	3	1	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:134135632T>C	ENST00000285930.4	-	3	336	c.257A>G	c.(256-258)aAg>aGg	p.K86R	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	86					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CACCAGGCCCTTCTCATGGTA	0.557													5	26					0	0	0	0	C	134135632	T	C	134135632	3	2	102	1	0	0	0	0	1	0	0	0	466	1609	56	5	725	5	AKR1B1	7	134135632	Missense_Mutation	SNP	T	TCGA-CN-6023-01A-11D-1683-08	4373722	134135632	25003031	49	19570											
HTR5A	3361	broad.mit.edu	37	chr7	154863070	154863070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaatacacgctccgcacccGcaagtgcgtctccaacgtca	10	6	9	16	5	2	0	1	0	1	0	4	1	3	1	3	1	3	3	3	1	4	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:154863070G>A	ENST00000287907.2	+	1	1037	c.461G>A	c.(460-462)cGc>cAc	p.R154H	AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	154						integral to plasma membrane	serotonin receptor activity	p.R154H(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTCCGCACCCGCAAGTGCGTC	0.617													9	25					0	0	0	0	A	154863070	G	A	154863070	3	1	102	1	0	0	0	0	1	0	0	0	7503	1087	38	1	463	1	HTR5A	7	154863070	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	20727438	154863070	4275593	50	19571											
CSMD1	64478	broad.mit.edu	37	chr8	3087643	3087643	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggcttgtccttggagctGatagccagggtcacactgga	7	12	13	9	0	1	1	1	1	0	0	2	3	2	3	2	4	2	2	2	4	1	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr8:3087643G>A	ENST00000520002.1	-	28	4822	c.4267C>T	c.(4267-4269)Cag>Tag	p.Q1423*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Q1423*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Q1422*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Q1422*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Q1423*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Q1423*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q1422*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1423	Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTGGAGCTGATAGCCAGGG	0.517													10	16					0	0	0	0	A	3087643	G	A	3087643	4	1	102	1	0	0	0	0	0	1	0	0	3976	1299	45	2	6606	2	CSMD1	8	3087643	Nonsense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08		3087643	143276379	51	19572											
ZFPM2	23414	broad.mit.edu	37	chr8	106814630	106814630	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataatccttgtacctccactCaagaacccacagaagggcta	14	8	6	13	0	1	2	1	0	0	2	3	2	3	2	4	1	2	2	4	1	6	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr8:106814630C>T	ENST00000407775.2	+	8	2570	c.2320C>T	c.(2320-2322)Caa>Taa	p.Q774*	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.Q505*|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.Q642*|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.Q642*|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	774					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TACCTCCACTCAAGAACCCAC	0.463													4	27					0	0	0	0	T	106814630	C	T	106814630	4	4	102	1	0	0	0	0	0	1	0	0	17753	827	29	2	2350	2	ZFPM2	8	106814630	Nonsense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	103726987	106814630	39549392	52	19573											
LY6H	4062	broad.mit.edu	37	chr8	144239772	144239772	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccccattgcacaaatccttCtcgcagcagtccacgtcgac	9	8	7	17	3	1	0	0	0	1	0	5	1	3	0	4	0	2	3	4	0	1	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr8:144239772C>G	ENST00000414417.2	-	5	614	c.381G>C	c.(379-381)gaG>gaC	p.E127D	LY6H_ENST00000430474.2_Missense_Mutation_p.E106D|LY6H_ENST00000342752.4_Missense_Mutation_p.E127D	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	106					nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACAAATCCTTCTCGCAGCAGT	0.612													5	49					0	0	0	0	G	144239772	C	G	144239772	3	3	102	1	0	0	0	0	1	0	0	0	9162	912	32	2	108	2	LY6H	8	144239772	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	37425142	144239772	2124250	53	19574											
KIAA1432	57589	broad.mit.edu	37	chr9	5773076	5773076	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaccgatgggcctctacaGactggtaagtgctgctttcc	7	11	12	11	1	1	1	0	0	1	1	2	3	2	2	3	3	3	3	3	3	2	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:5773076G>C	ENST00000414202.2	+	25	4170	c.3979G>C	c.(3979-3981)Gac>Cac	p.D1327H	KIAA1432_ENST00000418622.3_Missense_Mutation_p.D1248H|KIAA1432_ENST00000449720.2_Missense_Mutation_p.D1211H	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1327						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGCCTCTACAGACTGGTAAGT	0.443													6	25					0	0	0	0	C	5773076	G	C	5773076	3	2	102	1	0	0	0	0	1	0	0	0	8284	942	33	2	3910	2	KIAA1432	9	5773076	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08		5773076	135440355	54	19575											
VCP	7415	broad.mit.edu	37	chr9	35059698	35059698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggatctggttgatgactCggtcagcagccccaccacca	9	8	10	14	1	3	2	2	2	1	0	4	3	3	3	4	3	2	2	4	3	0	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:35059698C>T	ENST00000358901.6	-	14	2691	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	599					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTTGATGACTCGGTCAGCAGC	0.522													18	87					0	0	0	0	T	35059698	C	T	35059698	3	4	102	1	0	0	0	0	1	0	0	0	17236	884	31	1	640	1	VCP	9	35059698	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	29286622	35059698	106153733	55	19576											
VCP	7415	broad.mit.edu	37	chr9	35061650	35061650	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctaagcgtcctgtagcaTcaggaattccaatatctacc	11	12	6	12	1	3	0	1	0	2	0	6	1	5	1	3	1	3	2	3	1	6	5			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:35061650T>A	ENST00000358901.6	-	10	2013	c.1118A>T	c.(1117-1119)gAt>gTt	p.D373V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	373					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCTGTAGCATCAGGAATTCC	0.478													11	187					0	0	0	0	A	35061650	T	A	35061650	3	1	102	1	0	0	0	0	1	0	0	0	17236	1435	50	5	1334	5	VCP	9	35061650	Missense_Mutation	SNP	T	TCGA-CN-6023-01A-11D-1683-08	1952	35061650	106151781	56	19577											
SHB	6461	broad.mit.edu	37	chr9	37948721	37948721	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgcagcaggttctcggcGtctcctctgctgatggctcc	4	11	12	14	3	3	1	0	1	3	0	7	1	4	1	2	3	2	5	2	3	0	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:37948721G>A	ENST00000377707.3	-	5	1822	c.1257C>T	c.(1255-1257)gaC>gaT	p.D419D	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	419	SH2.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GGTTCTCGGCGTCTCCTCTGC	0.607													7	107					0	0	0	0	A	37948721	G	A	37948721	2	1	102	1	0	0	0	0	0	0	0	1	14356	1136	40	1		1	SHB	9	37948721	Silent	SNP	G	TCGA-CN-6023-01A-11D-1683-08	2887071	37948721	103264710	57	19578											
ZNF367	195828	broad.mit.edu	37	chr9	99150720	99150720	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcaaagtgggggtgcgCtgctctctcatttcccaata	7	13	9	12	1	3	0	2	0	1	0	5	0	4	0	2	2	2	2	2	2	3	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:99150720C>T	ENST00000375256.4	-	5	1148	c.852G>A	c.(850-852)caG>caA	p.Q284Q		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	284					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				TGGGGGTGCGCTGCTCTCTCA	0.438													24	41					0	0	0	0	T	99150720	C	T	99150720	2	4	102	1	0	0	0	0	0	0	0	1	17966	796	28	4		4	ZNF367	9	99150720	Silent	SNP	C	TCGA-CN-6023-01A-11D-1683-08	61201999	99150720	42062711	58	19579											
COQ4	51117	broad.mit.edu	37	chr9	131088088	131088088	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cggatttcgacatccaccctCgacctgggcaagctccagag	9	7	10	15	3	0	1	0	0	0	1	4	4	2	2	4	2	1	2	4	2	1	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:131088088C>G	ENST00000300452.3	+	4	653	c.330C>G	c.(328-330)ctC>ctG	p.L110L	COQ4_ENST00000372875.3_Silent_p.L110L	NM_016035.3	NP_057119.2	Q9Y3A0	COQ4_HUMAN	coenzyme Q4	110					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						CATCCACCCTCGACCTGGGCA	0.582													13	31					0	0	0	0	G	131088088	C	G	131088088	2	3	102	1	0	0	0	0	0	0	0	1	3777	871	31	3		3	COQ4	9	131088088	Silent	SNP	C	TCGA-CN-6023-01A-11D-1683-08	31937368	131088088	10125343	59	19580											
BMI1	648	broad.mit.edu	37	chr10	22618334	22618334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtactccagtgcagtctCctcatccacagtttcctcac	8	11	5	17	0	3	0	2	0	1	0	7	0	6	0	5	0	2	3	5	0	1	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:22618334C>A	ENST00000376663.3	+	10	1349	c.844C>A	c.(844-846)Cct>Act	p.P282T	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.P425T	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						AGTGCAGTCTCCTCATCCACA	0.507													25	79					2.44723e-14	2.83456e-14	1	0	A	22618334	C	A	22618334	3	1	102	1	0	0	0	0	1	0	0	0	1460	855	30	2	878	2	BMI1	10	22618334	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08		22618334	112916413	60	19581											
ANKRD26	22852	broad.mit.edu	37	chr10	27326225	27326225	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttctcgagaaagttgccTctgagcgtcatttcgctctt	6	15	9	11	3	4	2	1	1	3	1	6	3	4	2	1	0	2	3	1	0	1	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:27326225T>A	ENST00000376087.4	-	23	2752	c.2587A>T	c.(2587-2589)Agg>Tgg	p.R863W	ANKRD26_ENST00000376070.3_Missense_Mutation_p.R420W|ANKRD26_ENST00000436985.2_Missense_Mutation_p.R879W	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	862						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GAAAGTTGCCTCTGAGCGTCA	0.358													42	121					0	0	0	0	A	27326225	T	A	27326225	3	1	102	1	0	0	0	0	1	0	0	0	654	1550	54	5	2593	5	ANKRD26	10	27326225	Missense_Mutation	SNP	T	TCGA-CN-6023-01A-11D-1683-08	4707891	27326225	108208522	61	19582											
PTCHD3	374308	broad.mit.edu	37	chr10	27702586	27702586	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgctcctcctggaggcGgagaagcggtaggagtcgtt	6	9	17	9	4	0	1	0	0	0	1	4	4	2	3	2	6	2	3	2	6	2	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:27702586G>A	ENST00000438700.3	-	1	711	c.594C>T	c.(592-594)tcC>tcT	p.S198S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	198					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCCTGGAGGCGGAGAAGCGGT	0.602													4	131					0	0	0	0	A	27702586	G	A	27702586	2	1	102	1	0	0	0	0	0	0	0	1	12813	1103	39	1		1	PTCHD3	10	27702586	Silent	SNP	G	TCGA-CN-6023-01A-11D-1683-08	376361	27702586	107832161	62	19583											
BMS1	9790	broad.mit.edu	37	chr10	43312844	43312846	+	In_Frame_Del	DEL	AAG	AAG	-																															ccaagaaaaagcatttggatAagaagagaaaattgaaggag																										TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:43312844_43312846delAAG	ENST00000374518.4	+	15	2545_2547	c.2482_2484delAAG	c.(2482-2484)del	p.K829del		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	829					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCATTTGGATAAGAAGAGAAAAT	0.34													7	60	---	---	---	---					-	43312846	AAG	-	43312844	7	5	102	1	0	1	0	1	0	0	0	0	1477	363	13	0	2536	0	BMS1	10	43312844	In_Frame_Del	DEL	AAG	TCGA-CN-6023-01A-11D-1683-08	15610258	43312844	92221903	63	19584											
MYOF	26509	broad.mit.edu	37	chr10	95069804	95069804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtagaggagcacggccacGaagagcagcaggataagcag	15	2	16	8	2	0	2	0	0	0	2	0	6	0	4	1	3	4	5	1	3	3	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:95069804G>A	ENST00000371501.4	-	53	6242	c.6120C>T	c.(6118-6120)ttC>ttT	p.F2040F	MYOF_ENST00000358334.5_Silent_p.F2027F|MYOF_ENST00000371502.4_Silent_p.F2030F|MYOF_ENST00000359263.4_Silent_p.F2040F			Q9NZM1	MYOF_HUMAN	myoferlin	2040					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCACGGCCACGAAGAGCAGCA	0.552													5	30					0	0	0	0	A	95069804	G	A	95069804	2	1	102	1	0	0	0	0	0	0	0	1	10159	1049	37	1		1	MYOF	10	95069804	Silent	SNP	G	TCGA-CN-6023-01A-11D-1683-08	51756960	95069804	40464943	64	19585											
GSTO1	9446	broad.mit.edu	37	chr10	106027062	106027062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatggcagccatgaaggaaGatcccacagtctcagccctg	11	6	12	12	0	1	2	1	1	1	1	3	4	2	4	3	3	2	1	3	3	2	0			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:106027062G>A	ENST00000539281.1	+	6	897	c.541G>A	c.(541-543)Gat>Aat	p.D181N	GSTO1_ENST00000369713.5_Missense_Mutation_p.D209N|GSTO1_ENST00000369710.4_Missense_Mutation_p.D176N	NM_001191003.1	NP_001177932.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	209	GST C-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	CATGAAGGAAGATCCCACAGT	0.493													15	30					0	0	0	0	A	106027062	G	A	106027062	3	1	102	1	0	0	0	0	1	0	0	0	6892	942	33	2	647	2	GSTO1	10	106027062	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	10957258	106027062	29507685	65	19586											
SHOC2	8036	broad.mit.edu	37	chr10	112724421	112724421	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatgccgggaagagaattCaatgcgtttggacttatcca	13	10	10	8	2	1	1	1	0	0	1	2	4	2	3	2	2	2	1	2	2	5	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:112724421C>G	ENST00000369452.4	+	2	650	c.305C>G	c.(304-306)tCa>tGa	p.S102*	SHOC2_ENST00000265277.5_Nonsense_Mutation_p.S102*|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	102					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GAAGAGAATTCAATGCGTTTG	0.383													16	63					0	0	0	0	G	112724421	C	G	112724421	4	3	102	1	0	0	0	0	0	1	0	0	14375	838	29	2	307	2	SHOC2	10	112724421	Nonsense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	6697359	112724421	22810326	66	19587											
TRIM68	55128	broad.mit.edu	37	chr11	4626315	4626315	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccatctctcaccttgtaCtcccaggcaacatcctccat	8	12	3	18	0	2	0	1	0	1	0	7	0	6	0	5	1	2	2	5	1	2	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr11:4626315C>G	ENST00000300747.5	-	2	709	c.420G>C	c.(418-420)gaG>gaC	p.E140D		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	140					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCACCTTGTACTCCCAGGCAA	0.547													5	29					0	0	0	0	G	4626315	C	G	4626315	3	3	102	1	0	0	0	0	1	0	0	0	16636	564	20	4	1061	4	TRIM68	11	4626315	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08		4626315	130380201	67	19588											
TMEM134	80194	broad.mit.edu	37	chr11	67232544	67232544	+	Frame_Shift_Del	DEL	T	T	-																															cacctggagagggggtcgccTccagtcccacgccgaccagg																										TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr11:67232544delT	ENST00000308022.2	-	5	475	c.434delA	c.(433-435)ggfs	p.E145fs	TMEM134_ENST00000541059.1_5'UTR|TMEM134_ENST00000393877.3_Intron	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	145						integral to membrane				endometrium(1)|lung(1)	2						GGGGGTCGCCTCCAGTCCCAC	0.731													2	4	---	---	---	---					-	67232544	T	-	67232544	7	5	102	1	0	1	0	1	0	0	0	0	16144	1551	54	0	165	0	TMEM134	11	67232544	Frame_Shift_Del	DEL	T	TCGA-CN-6023-01A-11D-1683-08	62606229	67232544	67773972	68	19589											
KCNH3	23416	broad.mit.edu	37	chr12	49934900	49934900	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcaaggctgagctgatcCtgtaccggaagagcggtgag	10	8	15	8	2	1	4	1	3	0	1	2	5	2	5	2	3	3	4	2	3	3	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:49934900C>T	ENST00000257981.6	+	2	555	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	99	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGAGCTGATCCTGTACCGGAA	0.622													5	45					0	0	0	0	T	49934900	C	T	49934900	2	4	102	1	0	0	0	0	0	0	0	1	8086	680	24	4		4	KCNH3	12	49934900	Silent	SNP	C	TCGA-CN-6023-01A-11D-1683-08		49934900	83916995	69	19590											
KRT80	144501	broad.mit.edu	37	chr12	52566069	52566069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcagctcctggtacttgCgcagctgccgcgccatgtcc	5	10	10	16	3	2	0	2	0	0	0	4	0	4	0	4	1	5	4	4	1	1	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:52566069C>A	ENST00000313234.5	-	7	1188	c.1091G>T	c.(1090-1092)cGc>cTc	p.R364L	KRT80_ENST00000394815.2_Missense_Mutation_p.R364L	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	364	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CTGGTACTTGCGCAGCTGCCG	0.657													4	87					0.014758	0.0153293	1	0	A	52566069	C	A	52566069	3	1	102	1	0	0	0	0	1	0	0	0	8546	768	27	3	314	3	KRT80	12	52566069	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	2631169	52566069	81285826	70	19591											
PA2G4	5036	broad.mit.edu	37	chr12	56504208	56504208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatgaaaaagctgaatttGaggtacatgaagtatatgct	16	11	9	5	0	0	4	0	4	0	0	0	4	0	4	1	1	3	4	1	1	7	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:56504208G>A	ENST00000303305.6	+	8	1074	c.655G>A	c.(655-657)Gag>Aag	p.E219K	PA2G4_ENST00000552766.1_Missense_Mutation_p.E219K|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	219					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AGCTGAATTTGAGGTACATGA	0.443													7	55					0	0	0	0	A	56504208	G	A	56504208	3	1	102	1	0	0	0	0	1	0	0	0	11432	1291	45	2	685	2	PA2G4	12	56504208	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	3938139	56504208	77347687	71	19592											
ZFC3H1	196441	broad.mit.edu	37	chr12	72056924	72056924	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcgcccccgactccagCgactcccaccccggtaaggc	6	5	8	22	4	0	0	0	0	0	0	4	2	3	0	7	2	1	1	7	2	1	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:72056924C>A	ENST00000378743.3	-	1	825	c.467G>T	c.(466-468)cGc>cTc	p.R156L	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.R156L|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.R156L	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	156					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGACTCCAGCGACTCCCACC	0.667													13	126					0.000308642	0.00032478	1	0	A	72056924	C	A	72056924	3	1	102	1	0	0	0	0	1	0	0	0	17728	768	27	3	5642	3	ZFC3H1	12	72056924	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	15552716	72056924	61794971	72	19593											
OAS3	4940	broad.mit.edu	37	chr12	113388618	113388618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccgcgcagagatccttgatGagatgcgagcgcagctagaa	11	6	14	10	4	0	4	0	2	0	3	1	7	1	4	2	0	3	3	2	0	2	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:113388618G>A	ENST00000228928.7	+	7	1674	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	499	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GATCCTTGATGAGATGCGAGC	0.572													32	55					0	0	0	0	A	113388618	G	A	113388618	3	1	102	1	0	0	0	0	1	0	0	0	10872	1291	45	2	1521	2	OAS3	12	113388618	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	41331694	113388618	20463277	73	19594											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017607	33017607	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgattgattttagttgtaTacacttgttcctctcttaaa	10	19	6	6	0	1	2	0	2	1	0	3	2	2	2	1	0	1	3	1	0	5	9			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr13:33017607T>A	ENST00000357505.6	-	7	1126	c.1022A>T	c.(1021-1023)tAt>tTt	p.Y341F	N4BP2L2_ENST00000399396.3_Missense_Mutation_p.Y356F|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.Y341F|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTTAGTTGTATACACTTGTTC	0.378													6	18					0	0	0	0	A	33017607	T	A	33017607	3	1	102	1	0	0	0	0	1	0	0	0	10182	1406	49	5	1203	5	N4BP2L2	13	33017607	Missense_Mutation	SNP	T	TCGA-CN-6023-01A-11D-1683-08		33017607	82152271	74	19595											
MYCBP2	23077	broad.mit.edu	37	chr13	77751900	77751900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacatcatcaaccaacacctCtaattcatattcatgaattc	15	13	1	12	0	5	1	4	1	1	0	6	1	5	1	2	0	3	0	2	0	6	6			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr13:77751900C>T	ENST00000407578.2	-	35	5589	c.5323G>A	c.(5323-5325)Gag>Aag	p.E1775K	MYCBP2_ENST00000544440.2_Missense_Mutation_p.E1737K|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1737K|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCAACACCTCTAATTCATAT	0.398													20	16					0	0	0	0	T	77751900	C	T	77751900	3	4	102	1	0	0	0	0	1	0	0	0	10088	922	32	2	8909	2	MYCBP2	13	77751900	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	44734293	77751900	37417978	75	19596											
LRFN5	145581	broad.mit.edu	37	chr14	42356226	42356226	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatttgatactgaacaacaAtcagctgactttaatttcct	13	15	4	9	0	2	3	2	3	0	0	3	3	3	3	1	0	4	1	1	0	5	5			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr14:42356226A>G	ENST00000554171.1	+	5	2830	c.398A>G	c.(397-399)aAt>aGt	p.N133S	LRFN5_ENST00000298119.4_Missense_Mutation_p.N133S|LRFN5_ENST00000554120.1_Missense_Mutation_p.N133S			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	133						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGAACAACAATCAGCTGACT	0.373										HNSCC(30;0.082)			15	47					0	0	0	0	G	42356226	A	G	42356226	3	3	102	1	0	0	0	0	1	0	0	0	9005	101	4	5	400	5	LRFN5	14	42356226	Missense_Mutation	SNP	A	TCGA-CN-6023-01A-11D-1683-08		42356226	64993314	76	19597											
DAAM1	23002	broad.mit.edu	37	chr14	59798071	59798071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccctccaccgcctcccCtccctccaggtggccctcct	2	9	5	25	1	0	0	0	0	0	0	6	0	6	0	11	2	0	0	11	2	0	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr14:59798071C>G	ENST00000395125.1	+	13	1728	c.1705C>G	c.(1705-1707)Ctc>Gtc	p.L569V	DAAM1_ENST00000360909.3_Missense_Mutation_p.L569V|DAAM1_ENST00000351081.1_Missense_Mutation_p.L569V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	569	FH1.|Pro-rich.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		accgcctcccctccctccagg	0.642													8	19					0	0	0	0	G	59798071	C	G	59798071	3	3	102	1	0	0	0	0	1	0	0	0	4248	681	24	4	1755	4	DAAM1	14	59798071	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	17441845	59798071	47551469	77	19598											
SPTB	6710	broad.mit.edu	37	chr14	65242099	65242099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcaacccgcggcgtatggCccagaatctcattctgcagt	8	9	9	15	3	3	1	2	0	2	1	4	1	3	1	3	2	2	2	3	2	3	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr14:65242099C>A	ENST00000389722.3	-	22	4639	c.4586G>T	c.(4585-4587)gGc>gTc	p.G1529V	SPTB_ENST00000389720.3_Missense_Mutation_p.G1529V|SPTB_ENST00000389721.5_Missense_Mutation_p.G1529V|SPTB_ENST00000556626.1_Missense_Mutation_p.G1529V|SPTB_ENST00000542895.1_Missense_Mutation_p.G1529V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1529					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CGGCGTATGGCCCAGAATCTC	0.662													15	13					1.15088e-07	1.26048e-07	1	0	A	65242099	C	A	65242099	3	1	102	1	0	0	0	0	1	0	0	0	15208	739	26	4	2525	4	SPTB	14	65242099	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	5444028	65242099	42107441	78	19599											
MAX	4149	broad.mit.edu	37	chr14	65544653	65544653	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgctccagaagagcattCtgccgcttgaggtcgtcaat	8	11	11	11	2	2	3	1	1	1	2	4	3	3	3	2	1	4	4	2	1	2	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr14:65544653C>G	ENST00000284165.6	-	4	421	c.273G>C	c.(271-273)caG>caC	p.Q91H	MAX_ENST00000358664.4_Missense_Mutation_p.Q91H|MAX_ENST00000341653.2_Intron|MAX_ENST00000557746.1_Missense_Mutation_p.Q82H|MAX_ENST00000556443.1_Missense_Mutation_p.Q82H|MAX_ENST00000358402.4_Missense_Mutation_p.Q82H|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000556979.1_Missense_Mutation_p.Q91H|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.Q82H|MAX_ENST00000555419.1_Missense_Mutation_p.Q55H	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	91	Leucine-zipper.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GAAGAGCATTCTGCCGCTTGA	0.567													18	32					0	0	0	0	G	65544653	C	G	65544653	3	3	102	1	0	0	0	0	1	0	0	0	9408	912	32	2	433	2	MAX	14	65544653	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	302554	65544653	41804887	79	19600											
SLC12A6	9990	broad.mit.edu	37	chr15	34628812	34628812	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgacaaacctggaatgtCatcgatctttgtcggtgtca	9	13	10	9	2	4	1	2	1	2	0	6	3	4	2	1	2	1	0	1	2	2	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr15:34628812C>G	ENST00000354181.3	-	2	562	c.70G>C	c.(70-72)Gac>Cac	p.D24H	SLC12A6_ENST00000397707.2_Missense_Mutation_p.D24H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D24H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D15H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D24H|SLC12A6_ENST00000458406.2_Intron|SLC12A6_ENST00000397702.2_Intron			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	24					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCTGGAATGTCATCGATCTTT	0.488													14	21					0	0	0	0	G	34628812	C	G	34628812	3	3	102	1	0	0	0	0	1	0	0	0	14475	826	29	2	3604	2	SLC12A6	15	34628812	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08		34628812	67902580	80	19601											
PRSS22	64063	broad.mit.edu	37	chr16	2905798	2905798	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggaccgagagccagggttCcccagctgccaggcccccag	7	4	14	16	1	0	1	0	0	0	1	1	3	1	2	7	3	3	2	7	3	0	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:2905798C>T	ENST00000161006.3	-	4	401	c.336G>A	c.(334-336)ggG>ggA	p.G112G	PRSS22_ENST00000571228.1_Intron|PRSS22_ENST00000574768.1_5'UTR	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	112	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						AGCCAGGGTTCCCCAGCTGCC	0.617													6	28					0	0	0	0	T	2905798	C	T	2905798	2	4	102	1	0	0	0	0	0	0	0	1	12698	842	30	2		2	PRSS22	16	2905798	Silent	SNP	C	TCGA-CN-6023-01A-11D-1683-08		2905798	87448955	81	19602											
UMOD	7369	broad.mit.edu	37	chr16	20362149	20362149	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatttttctctctgtctctGatgtctggtgtcctgtgaac	5	18	9	9	0	4	2	0	2	4	0	7	3	5	2	1	1	1	0	1	1	2	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:20362149G>A	ENST00000396138.4	-	2	124	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	UMOD_ENST00000570689.1_Intron|UMOD_ENST00000396134.2_5'UTR|UMOD_ENST00000424589.1_Intron|UMOD_ENST00000302509.4_Intron|UMOD_ENST00000396142.2_5'UTR			P07911	UROM_HUMAN	uromodulin	0					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTCTGTCTCTGATGTCTGGTG	0.488													4	6					0	0	0	0	A	20362149	G	A	20362149	4	1	102	1	0	0	0	0	0	1	0	0	17075	1305	45	2		2	UMOD	16	20362149	Nonsense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	17456351	20362149	69992604	82	19603											
COG7	91949	broad.mit.edu	37	chr16	23444886	23444886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtagcccactggatttGtgtgtgccaagcaccaagca	9	10	11	11	0	0	0	0	0	0	0	0	1	0	1	3	1	4	3	3	1	3	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:23444886G>C	ENST00000307149.5	-	6	975	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	264					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CACTGGATTTGTGTGTGCCAA	0.547													3	40					0	0	0	0	C	23444886	G	C	23444886	3	2	102	1	0	0	0	0	1	0	0	0	3693	1386	48	4	1570	4	COG7	16	23444886	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	3082737	23444886	66909867	83	19604											
GTF3C1	2975	broad.mit.edu	37	chr16	27472703	27472703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacttgttccagttgacctCgtgggggaacacacggccca	8	8	11	14	2	0	1	0	1	0	0	2	2	1	2	4	3	1	2	4	3	1	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:27472703C>T	ENST00000356183.4	-	37	6313	c.6298G>A	c.(6298-6300)Gag>Aag	p.E2100K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E2075K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2100						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGTTGACCTCGTGGGGGAAC	0.652													10	40					0	0	0	0	T	27472703	C	T	27472703	3	4	102	1	0	0	0	0	1	0	0	0	6922	893	31	1	35	1	GTF3C1	16	27472703	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	4027817	27472703	62882050	84	19605											
ZNF768	79724	broad.mit.edu	37	chr16	30537124	30537124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggctctgggattcaaactCagggctctgagaatctgatt	10	11	12	8	0	5	2	2	2	3	1	5	4	5	3	0	3	1	2	0	3	2	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:30537124C>T	ENST00000380412.5	-	2	512	c.337G>A	c.(337-339)Gag>Aag	p.E113K	ZNF768_ENST00000562803.1_Missense_Mutation_p.E82K	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	113	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GATTCAAACTCAGGGCTCTGA	0.587													14	60					0	0	0	0	T	30537124	C	T	30537124	3	4	102	1	0	0	0	0	1	0	0	0	18235	835	29	2	1289	2	ZNF768	16	30537124	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	3064421	30537124	59817629	85	19606											
ZNF768	79724	broad.mit.edu	37	chr16	30537662	30537662	+	Missense_Mutation	SNP	C	C	G																															ctcacctctgaggtacccttCggggctcctcatttcgtcag																										TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:30537662C>G	ENST00000380412.5	-	1	248	c.73G>C	c.(73-75)Gaa>Caa	p.E25Q	ZNF747_ENST00000569360.1_Intron|ZNF747_ENST00000535210.1_Intron|ZNF768_ENST00000562803.1_Intron	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	25					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGGTACCCTTCGGGGCTCCTC	0.711													4	22					0	0	0	0	G	30537662	C	G	30537662	3	3	102	1	0	0	0	0	1	0	0	0	18235	893	31	3	1557	3	ZNF768	16	30537662	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	538	30537662	59817091	86	19607	159	2									
ZNF768	79724	broad.mit.edu	37	chr16	30537672	30537672	+	Missense_Mutation	SNP	C	C	T																															aggtacccttcggggctcctCatttcgtcagaactctgcac																										TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:30537672C>T	ENST00000380412.5	-	1	238	c.63G>A	c.(61-63)atG>atA	p.M21I	ZNF747_ENST00000569360.1_Intron|ZNF747_ENST00000535210.1_Intron|ZNF768_ENST00000562803.1_Intron	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	21					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CGGGGCTCCTCATTTCGTCAG	0.701													5	23					0	0	0	0	T	30537672	C	T	30537672	3	4	102	1	0	0	0	0	1	0	0	0	18235	826	29	2	1567	2	ZNF768	16	30537672	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	10	30537672	59817081	87	19608	159	2									
MMP2	4313	broad.mit.edu	37	chr16	55523685	55523685	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaaagatgtggtgtgcgAccacagccaactacgatgat	13	7	12	9	3	0	2	0	1	0	1	0	5	0	3	2	2	4	0	2	2	3	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:55523685A>G	ENST00000219070.4	+	7	1638	c.1129A>G	c.(1129-1131)Acc>Gcc	p.T377A	MMP2_ENST00000570308.1_Missense_Mutation_p.T301A|MMP2_ENST00000437642.2_Missense_Mutation_p.T327A|MMP2_ENST00000543485.1_Missense_Mutation_p.T301A	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	377	Collagen-binding.|Fibronectin type-II 3.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GTGGTGTGCGACCACAGCCAA	0.592													8	56					0	0	0	0	G	55523685	A	G	55523685	3	3	102	1	0	0	0	0	1	0	0	0	9727	275	10	5	1162	5	MMP2	16	55523685	Missense_Mutation	SNP	A	TCGA-CN-6023-01A-11D-1683-08	24986013	55523685	34831068	88	19609											
ZNF821	55565	broad.mit.edu	37	chr16	71894083	71894088	+	In_Frame_Del	DEL	CATTTT	CATTTT	-																															tgagctcgcaacatcatgtcCattttctccagcctcctctt																										TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:71894083_71894088delCATTTT	ENST00000425432.1	-	8	1451_1456	c.1072_1077delAAAATG	c.(1072-1077)del	p.KM358del	ZNF821_ENST00000565601.1_In_Frame_Del_p.KM358del|ZNF821_ENST00000564134.1_3'UTR|RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000446827.2_In_Frame_Del_p.KM316del|ZNF821_ENST00000313565.6_In_Frame_Del_p.KM316del|RP11-498D10.4_ENST00000569119.1_Intron	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						ACATCATGTCCATTTTCTCCAGCCTC	0.587													8	55	---	---	---	---					-	71894088	CATTTT	-	71894083	7	5	102	1	0	1	0	1	0	0	0	0	18271	594	21	0	165	0	ZNF821	16	71894083	In_Frame_Del	DEL	CATTTT	TCGA-CN-6023-01A-11D-1683-08	16370398	71894083	18460670	89	19610											
DYNLRB2	83657	broad.mit.edu	37	chr16	80583380	80583380	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaattaaatttcataataGgtattcccatccgaacaacc	17	11	3	10	1	1	0	1	0	0	0	3	1	3	0	3	1	2	1	3	1	9	6			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:80583380G>C	ENST00000305904.6	+	3	199		c.e3-1		DYNLRB2_ENST00000568035.1_Intron|RP11-109P11.1_ENST00000568275.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000570222.1_Splice_Site|DYNLRB2_ENST00000562982.1_Splice_Site	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2						microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						TTTCATAATAGGTATTCCCAT	0.338													4	20					0	0	0	0	C	80583380	G	C	80583380	5	2	102	1	0	0	0	0	0	0	1	0	4887	1014	35	4	89	4	DYNLRB2	16	80583380	Splice_Site	SNP	G	TCGA-CN-6023-01A-11D-1683-08	8689297	80583380	9771373	90	19611											
MYBBP1A	10514	broad.mit.edu	37	chr17	4455195	4455195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttagcagtgcacacgtgctCcccgtaatggcggatcacgt	8	9	11	13	4	1	0	1	0	0	0	2	1	2	1	2	2	3	4	2	2	2	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:4455195C>T	ENST00000254718.4	-	8	1309	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.E335K			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	335	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CACACGTGCTCCCCGTAATGG	0.627													6	74					0	0	0	0	T	4455195	C	T	4455195	3	4	102	1	0	0	0	0	1	0	0	0	10078	864	30	2	3099	2	MYBBP1A	17	4455195	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08		4455195	76740015	91	19612											
MINK1	50488	broad.mit.edu	37	chr17	4789867	4789867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccacggagcggcaggtcCgcatccagcttaaggaccac	10	4	12	15	3	0	0	0	0	0	0	2	2	2	2	4	4	3	3	4	4	1	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:4789867C>T	ENST00000355280.6	+	10	1091	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MINK1_ENST00000347992.7_Missense_Mutation_p.R299C|MINK1_ENST00000453408.3_Missense_Mutation_p.R299C	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	299					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCGGCAGGTCCGCATCCAGCT	0.602													20	46					0	0	0	0	T	4789867	C	T	4789867	3	4	102	1	0	0	0	0	1	0	0	0	9656	652	23	1	672	1	MINK1	17	4789867	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	334672	4789867	76405343	92	19613											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	21					0	0	0	0	T	7577548	C	T	7577548	3	4	102	1	0	0	0	0	1	0	0	0	16476	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	2787681	7577548	73617662	93	19614											
PHF12	57649	broad.mit.edu	37	chr17	27248731	27248731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgtgaagcagactttgaCgggtaagggaacgagaccat	14	6	13	8	3	0	4	0	2	0	2	0	6	0	5	1	2	2	2	1	2	3	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:27248731C>A	ENST00000577226.1	-	5	1157	c.811G>T	c.(811-813)Gtc>Ttc	p.V271F	PHF12_ENST00000268756.3_Missense_Mutation_p.V271F|PHF12_ENST00000332830.4_Missense_Mutation_p.V271F|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	271	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAGACTTTGACGGGTAAGGGA	0.408													29	73					2.70662e-09	3.06877e-09	1	0	A	27248731	C	A	27248731	3	1	102	1	0	0	0	0	1	0	0	0	11895	536	19	3	2273	3	PHF12	17	27248731	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	19671183	27248731	53946479	94	19615											
MYO1D	4642	broad.mit.edu	37	chr17	31094761	31094761	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaattcggcagcatcatTgatagaagactggggatgaa	13	10	12	6	1	2	5	1	3	1	2	3	6	2	6	0	3	1	2	0	3	4	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:31094761T>C	ENST00000318217.5	-	7	1028	c.724A>G	c.(724-726)Aat>Gat	p.N242D	MYO1D_ENST00000583621.1_Missense_Mutation_p.N242D|MYO1D_ENST00000579584.1_Missense_Mutation_p.N242D|MYO1D_ENST00000394649.4_Missense_Mutation_p.N154D	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	242	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GCAGCATCATTGATAGAAGAC	0.353													24	39					0	0	0	0	C	31094761	T	C	31094761	3	2	102	1	0	0	0	0	1	0	0	0	10141	1812	63	5	2360	5	MYO1D	17	31094761	Missense_Mutation	SNP	T	TCGA-CN-6023-01A-11D-1683-08	3846030	31094761	50100449	95	19616											
RFFL	117584	broad.mit.edu	37	chr17	33353416	33353416	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggccgtgtttgcaaagtGagccccacaggacttgcagc	8	8	12	13	1	0	1	0	1	0	0	0	2	0	2	4	2	4	3	4	2	1	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:33353416G>C	ENST00000315249.7	-	2	379	c.157C>G	c.(157-159)Cac>Gac	p.H53D	RFFL_ENST00000415395.2_Missense_Mutation_p.H53D|RFFL_ENST00000413582.2_Missense_Mutation_p.H53D|RFFL_ENST00000394597.2_Missense_Mutation_p.H53D|RFFL_ENST00000378516.2_Missense_Mutation_p.H53D|RFFL_ENST00000268850.7_Missense_Mutation_p.H53D|RFFL_ENST00000584655.1_Missense_Mutation_p.H53D|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Missense_Mutation_p.H53D			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	53					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTTGCAAAGTGAGCCCCACAG	0.597													6	24					0	0	0	0	C	33353416	G	C	33353416	3	2	102	1	0	0	0	0	1	0	0	0	13332	1290	45	2	958	2	RFFL	17	33353416	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	2258655	33353416	47841794	96	19617											
CCL23	6368	broad.mit.edu	37	chr17	34340266	34340266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctggtcttgatccgtgtgtCcagcttcagcattctcacgc	5	13	9	14	2	3	1	2	1	2	0	6	1	5	1	3	1	2	2	3	1	0	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:34340266C>T	ENST00000293280.2	-	4	455	c.385G>A	c.(385-387)Gac>Aac	p.D129N	CCL23_ENST00000591423.1_Missense_Mutation_p.D112N	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	112					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	ATCCGTGTGTCCAGCTTCAGC	0.498													6	33					0	0	0	0	T	34340266	C	T	34340266	3	4	102	1	0	0	0	0	1	0	0	0	2922	855	30	2	32	2	CCL23	17	34340266	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	986850	34340266	46854944	97	19618											
TEX2	55852	broad.mit.edu	37	chr17	62248511	62248511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatttttggcacagccaCgcccatgtcaagttccgtca	9	10	10	12	2	2	0	2	0	0	0	3	2	3	1	3	2	1	2	3	2	1	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:62248511C>G	ENST00000258991.3	-	7	2725	c.2641G>C	c.(2641-2643)Gtg>Ctg	p.V881L	TEX2_ENST00000583097.1_Missense_Mutation_p.V874L|TEX2_ENST00000584379.1_Missense_Mutation_p.V874L			Q8IWB9	TEX2_HUMAN	testis expressed 2	874					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGCACAGCCACGCCCATGTCA	0.448													5	35					0	0	0	0	G	62248511	C	G	62248511	3	3	102	1	0	0	0	0	1	0	0	0	15875	536	19	3	787	3	TEX2	17	62248511	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	27908245	62248511	18946699	98	19619											
RFNG	5986	broad.mit.edu	37	chr17	80007651	80007651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcccaggagcccctccaCgatgtagccaactgtgcagt	8	6	12	15	2	0	0	0	0	0	0	1	2	1	1	5	2	4	2	5	2	2	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:80007651C>T	ENST00000310496.4	-	6	737	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	RFNG_ENST00000429557.3_Missense_Mutation_p.V118M|RFNG_ENST00000584838.1_5'UTR	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	244					cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGCCCCTCCACGATGTAGCCA	0.667													7	18					0	0	0	0	T	80007651	C	T	80007651	3	4	102	1	0	0	0	0	1	0	0	0	13334	536	19	1	277	1	RFNG	17	80007651	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	17759140	80007651	1187559	99	19620											
CCDC57	284001	broad.mit.edu	37	chr17	80129690	80129690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagagttttaaacttatgcTttagagttcgtatttctgct	9	18	7	7	1	1	2	0	0	1	2	2	2	1	2	1	0	3	5	1	0	5	8			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:80129690T>C	ENST00000392347.1	-	12	1805	c.1769A>G	c.(1768-1770)aAg>aGg	p.K590R	CCDC57_ENST00000392343.3_Missense_Mutation_p.K590R|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000389641.4_Missense_Mutation_p.K590R	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	590										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AAACTTATGCTTTAGAGTTCG	0.448													19	68					0	0	0	0	C	80129690	T	C	80129690	3	2	102	1	0	0	0	0	1	0	0	0	2854	1609	56	5	1002	5	CCDC57	17	80129690	Missense_Mutation	SNP	T	TCGA-CN-6023-01A-11D-1683-08	122039	80129690	1065520	100	19621											
PTPN2	5771	broad.mit.edu	37	chr18	12817283	12817283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactttaaacaagaaattgaGaaatgaagctggtgattcag	17	10	9	5	0	1	4	1	3	0	2	1	5	1	4	0	1	2	1	0	1	6	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr18:12817283G>A	ENST00000309660.5	-	6	670	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	PTPN2_ENST00000353319.4_Missense_Mutation_p.L193F|PTPN2_ENST00000327283.3_Missense_Mutation_p.L193F|PTPN2_ENST00000591497.1_Missense_Mutation_p.L164F|PTPN2_ENST00000591115.1_Missense_Mutation_p.L216F	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	193	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AAGAAATTGAGAAATGAAGCT	0.453													19	64					0	0	0	0	A	12817283	G	A	12817283	3	1	102	1	0	0	0	0	1	0	0	0	12865	942	33	2	712	2	PTPN2	18	12817283	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08		12817283	65259965	101	19622											
ESCO1	114799	broad.mit.edu	37	chr18	19154819	19154819	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcattcctgagtaatgacTttcttttctgagtagttttg	8	19	7	7	0	3	3	1	3	2	0	4	3	4	3	1	0	0	3	1	0	2	8			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr18:19154819T>A	ENST00000269214.5	-	0	923					NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1						cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GAGTAATGACTTTCTTTTCTG	0.358													4	15					0	0	0	0	A	19154819	T	A	19154819	1	1	102	1	0	0	0	0	0	0	0	0	5286	1624	56	5		5	ESCO1	18	19154819	Translation_Start_Site	SNP	T	TCGA-CN-6023-01A-11D-1683-08	6337536	19154819	58922429	102	19623											
CHST9	83539	broad.mit.edu	37	chr18	24497019	24497019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactcctgaaggaaagacCttcgtttctcttgggtctcc	10	12	8	11	1	2	2	0	1	2	1	6	3	3	3	3	2	1	1	3	2	4	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr18:24497019C>A	ENST00000284224.8	-	6	813	c.536G>T	c.(535-537)aGg>aTg	p.R179M	CHST9_ENST00000581714.1_Missense_Mutation_p.R179M|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	179					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					AAGGAAAGACCTTCGTTTCTC	0.383													17	82					1.15088e-07	1.26048e-07	1	0	A	24497019	C	A	24497019	3	1	102	1	0	0	0	0	1	0	0	0	3440	681	24	4	799	4	CHST9	18	24497019	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	5342200	24497019	53580229	103	19624											
HNRNPL	3191	broad.mit.edu	37	chr19	39329127	39329127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcggttcttggctgcctgCtctggggtggagaaccgatt	5	12	15	9	2	2	1	0	0	2	1	2	3	2	1	2	5	4	3	2	5	1	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr19:39329127C>T	ENST00000594769.1	-	3	316	c.317G>A	c.(316-318)aGc>aAc	p.S106N	HNRNPL_ENST00000221419.5_Silent_p.E489E|HNRNPL_ENST00000600873.1_Silent_p.E356E																							TGGCTGCCTGCTCTGGGGTGG	0.572													5	21					0	0	0	0	T	39329127	C	T	39329127	3	4	102	1	0	0	0	0	1	0	0	0	7320	796	28	4	318	4	HNRNPL	19	39329127	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08		39329127	19799856	104	19625											
NFKBIB	4793	broad.mit.edu	37	chr19	39399378	39399380	+	In_Frame_Del	DEL	ACG	ACG	-																															cctttgcccccaggatgaatAcgacgacattgtggttcaca																								rs141886159		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr19:39399378_39399380delACG	ENST00000313582.5	+	6	1011_1013	c.977_979delACG	c.(976-981)tac>t	p.YD326del	NFKBIB_ENST00000392079.3_3'UTR	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	326					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CAGGATGAATACGACGACATTGT	0.596													19	65	---	---	---	---					-	39399380	ACG	-	39399378	7	5	102	1	0	1	0	1	0	0	0	0	10448	391	14	0	1047	0	NFKBIB	19	39399378	In_Frame_Del	DEL	ACG	TCGA-CN-6023-01A-11D-1683-08	70251	39399378	19729605	105	19626											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41807560	41807560	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgaacaataaagcgaacCgacgaggaagggaaggatgt	17	3	14	7	4	0	0	0	0	0	0	0	8	0	3	2	3	3	0	2	3	7	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr19:41807560C>T	ENST00000392006.3	+	11	1811	c.1638C>T	c.(1636-1638)acC>acT	p.T546T	HNRNPUL1_ENST00000378215.4_Silent_p.T432T|HNRNPUL1_ENST00000352456.3_Silent_p.T446T|HNRNPUL1_ENST00000595018.1_Silent_p.T446T|HNRNPUL1_ENST00000593587.1_Silent_p.T446T|HNRNPUL1_ENST00000602130.1_Silent_p.T546T|HNRNPUL1_ENST00000263367.3_Silent_p.T457T	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	546	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TAAAGCGAACCGACGAGGAAG	0.483													9	53					0	0	0	0	T	41807560	C	T	41807560	2	4	102	1	0	0	0	0	0	0	0	1	7324	639	23	1		1	HNRNPUL1	19	41807560	Silent	SNP	C	TCGA-CN-6023-01A-11D-1683-08	2408182	41807560	17321423	106	19627											
SEC23B	10483	broad.mit.edu	37	chr20	18511339	18511339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctagaggctacatggtaatGggagattctttcaacacttc	11	12	9	9	0	2	2	1	0	1	2	3	3	2	2	1	3	2	2	1	3	4	6			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr20:18511339G>T	ENST00000336714.3	+	10	1557	c.1125G>T	c.(1123-1125)atG>atT	p.M375I	SEC23B_ENST00000377465.1_Missense_Mutation_p.M375I|SEC23B_ENST00000377475.3_Missense_Mutation_p.M375I|SEC23B_ENST00000262544.2_Missense_Mutation_p.M375I	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	375					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ACATGGTAATGGGAGATTCTT	0.343													6	73					1.06961e-07	1.18764e-07	1	0	T	18511339	G	T	18511339	3	4	102	1	0	0	0	0	1	0	0	0	14079	1348	47	4	1159	4	SEC23B	20	18511339	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08		18511339	44514181	107	19628											
NDRG3	57446	broad.mit.edu	37	chr20	35293461	35293461	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacttaccacagcctcaacTgcaggcgaattgtcccctac	11	9	6	15	1	1	0	1	0	0	0	2	1	2	0	4	1	6	1	4	1	5	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr20:35293461T>G	ENST00000373803.2	-	12	854	c.798A>C	c.(796-798)gcA>gcC	p.A266A	NDRG3_ENST00000540765.1_Silent_p.A162A|NDRG3_ENST00000359675.2_Silent_p.A254A|NDRG3_ENST00000349004.1_Silent_p.A266A|NDRG3_ENST00000373773.3_Silent_p.A171A			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	266					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CAGCCTCAACTGCAGGCGAAT	0.458													46	93					0	0	0	0	G	35293461	T	G	35293461	2	3	102	1	0	0	0	0	0	0	0	1	10323	1567	55	5		5	NDRG3	20	35293461	Silent	SNP	T	TCGA-CN-6023-01A-11D-1683-08	16782122	35293461	27732059	108	19629											
CHD6	84181	broad.mit.edu	37	chr20	40040857	40040857	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgacatctaattttccaGgttctttacagcgtggcctc	8	14	8	11	1	2	1	0	1	2	0	4	1	3	1	2	2	3	2	2	2	2	6			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr20:40040857G>C	ENST00000373233.3	-	36	7355	c.7178C>G	c.(7177-7179)cCt>cGt	p.P2393R	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2393					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TAATTTTCCAGGTTCTTTACA	0.488													11	70					0	0	0	0	C	40040857	G	C	40040857	3	2	102	1	0	0	0	0	1	0	0	0	3358	1000	35	4	977	4	CHD6	20	40040857	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	4747396	40040857	22984663	109	19630											
BIRC7	79444	broad.mit.edu	37	chr20	61869950	61869950	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagaaccggaagacgcagcCcctgtggccccctccggtga	9	4	13	15	3	0	3	0	1	0	2	1	5	1	4	6	3	2	1	6	3	3	0			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr20:61869950C>G	ENST00000217169.3	+	4	775	c.561C>G	c.(559-561)gcC>gcG	p.A187A	BIRC7_ENST00000342412.6_Silent_p.A187A|BIRC7_ENST00000395306.1_Silent_p.A100A	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	187					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					AAGACGCAGCCCCTGTGGCCC	0.677													4	86					0	0	0	0	G	61869950	C	G	61869950	2	3	102	1	0	0	0	0	0	0	0	1	1444	610	22	4		4	BIRC7	20	61869950	Silent	SNP	C	TCGA-CN-6023-01A-11D-1683-08	21829093	61869950	1155570	110	19631											
MAGEB6	158809	broad.mit.edu	37	chrX	26212225	26212225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatccgatgtggctgccaacGgccaagatgagaaaagtcca	14	6	11	10	2	0	2	0	1	0	2	2	4	2	2	4	2	2	1	4	2	5	0	rs140212002		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:26212225G>T	ENST00000379034.1	+	2	411	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	88	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGCTGCCAACGGCCAAGATGA	0.542													10	18					2.80697e-09	3.1603e-09	1	0	T	26212225	G	T	26212225	3	4	102	1	0	0	0	0	1	0	0	0	9248	1116	39	3	264	3	MAGEB6	23	26212225	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08		26212225	129058335	111	19632											
MAGEB1	4112	broad.mit.edu	37	chrX	30268842	30268842	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgtgtcatgtaccGaatctgacgaaggtgccaaa	11	9	11	10	2	2	1	1	1	1	0	2	3	2	1	2	1	4	3	2	1	4	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:30268842G>T	ENST00000378981.3	+	4	553	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	MAGEB1_ENST00000397550.1_Nonsense_Mutation_p.E78*|MAGEB1_ENST00000397548.2_Nonsense_Mutation_p.E78*	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	78										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GTCATGTACCGAATCTGACGA	0.552													5	8					1.23904e-05	1.3211e-05	1	0	T	30268842	G	T	30268842	4	4	102	1	0	0	0	0	0	1	0	0	9241	1059	37	3	234	3	MAGEB1	23	30268842	Nonsense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	4056617	30268842	125001718	112	19633											
DMD	1756	broad.mit.edu	37	chrX	31497125	31497125	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctcctggtagagtttctcTagtccttccaaaggctgctc	6	13	10	12	0	1	1	0	0	1	1	6	1	4	1	3	3	1	5	3	3	3	4			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:31497125T>C	ENST00000357033.4	-	58	8849	c.8643A>G	c.(8641-8643)ctA>ctG	p.L2881L	DMD_ENST00000343523.2_Silent_p.L421L|DMD_ENST00000378677.2_Silent_p.L2877L|DMD_ENST00000474231.1_Silent_p.L421L|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000359836.1_Silent_p.L421L|DMD_ENST00000541735.1_Silent_p.L421L|DMD_ENST00000378707.3_Silent_p.L421L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2881					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGAGTTTCTCTAGTCCTTCCA	0.428													14	9					0	0	0	0	C	31497125	T	C	31497125	2	2	102	1	0	0	0	0	0	0	0	1	4617	1509	53	5		5	DMD	23	31497125	Silent	SNP	T	TCGA-CN-6023-01A-11D-1683-08	1228283	31497125	123773435	113	19634											
SMC1A	8243	broad.mit.edu	37	chrX	53421731	53421731	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagatcaccgtagtcaatCtcaatgagggcctctcgtgc	10	9	9	13	2	4	2	3	1	2	1	6	2	4	2	2	1	1	1	2	1	3	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:53421731C>G	ENST00000322213.4	-	19	3067	c.2940G>C	c.(2938-2940)gaG>gaC	p.E980D		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	980					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CGTAGTCAATCTCAATGAGGG	0.542													4	26					0	0	0	0	G	53421731	C	G	53421731	3	3	102	1	0	0	0	0	1	0	0	0	14869	912	32	2	789	2	SMC1A	23	53421731	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	21924606	53421731	101848829	114	19635											
XKRX	402415	broad.mit.edu	37	chrX	100169656	100169656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccagttctgccctttgtCgacgagatctctgtctgcca	5	13	8	15	2	3	1	0	0	3	1	6	3	4	1	4	0	2	1	4	0	0	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:100169656C>A	ENST00000328526.5	-	3	1625	c.1060G>T	c.(1060-1062)Gac>Tac	p.D354Y	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Missense_Mutation_p.D341Y	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	341						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TGCCCTTTGTCGACGAGATCT	0.478													60	66					5.08636e-23	5.97741e-23	1	0	A	100169656	C	A	100169656	3	1	102	1	0	0	0	0	1	0	0	0	17535	884	31	3	332	3	XKRX	23	100169656	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	46747925	100169656	55100904	115	19636											
BCORL1	63035	broad.mit.edu	37	chrX	129147536	129147536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctggctccagcgccacCgtcagtgcccacgctcatct	5	8	10	18	3	4	0	2	0	2	0	5	0	5	0	4	2	2	3	4	2	0	0			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:129147536C>T	ENST00000540052.1	+	3	832	c.788C>T	c.(787-789)cCg>cTg	p.P263L	BCORL1_ENST00000303743.5_Missense_Mutation_p.P263L|BCORL1_ENST00000218147.7_Missense_Mutation_p.P263L|BCORL1_ENST00000359304.2_Missense_Mutation_p.P263L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	263	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCAGCGCCACCGTCAGTGCCC	0.627													16	49					0	0	0	0	T	129147536	C	T	129147536	3	4	102	1	0	0	0	0	1	0	0	0	1391	652	23	1	798	1	BCORL1	23	129147536	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	28977880	129147536	26123024	116	19637											
SLITRK4	139065	broad.mit.edu	37	chrX	142718314	142718314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgcaattcaacgacaCggccaatgtgttccagaacc	12	8	8	13	2	1	1	1	0	0	1	2	2	2	1	4	1	3	3	4	1	4	3			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:142718314C>T	ENST00000381779.4	-	2	836	c.611G>A	c.(610-612)cGt>cAt	p.R204H	SLITRK4_ENST00000356928.1_Missense_Mutation_p.R204H|SLITRK4_ENST00000338017.4_Missense_Mutation_p.R204H	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	204						integral to membrane		p.R204H(1)		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)					TTCAACGACACGGCCAATGTG	0.428													25	54					0	0	0	0	T	142718314	C	T	142718314	3	4	102	1	0	0	0	0	1	0	0	0	14833	536	19	1	1906	1	SLITRK4	23	142718314	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	13570778	142718314	12552246	117	19638											
PASD1	139135	broad.mit.edu	37	chrX	150817138	150817138	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaaagccgtgtacgttgaAcccgctgctgctgctgctgc	7	10	12	12	3	0	2	0	2	0	0	0	2	0	2	2	0	8	7	2	0	3	2			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:150817138A>C	ENST00000370357.4	+	9	926	c.681A>C	c.(679-681)gaA>gaC	p.E227D		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	227						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGTACGTTGAACCCgctgctg	0.433													10	74					0	0	0	0	C	150817138	A	C	150817138	3	2	102	1	0	0	0	0	1	0	0	0	11542	40	2	5	711	5	PASD1	23	150817138	Missense_Mutation	SNP	A	TCGA-CN-6023-01A-11D-1683-08	8098824	150817138	4453422	118	19639											
TAZ	6901	broad.mit.edu	37	chrX	153649016	153649016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaaatcactgtgctgatcgGgaagcccttcagtgccctgc	9	9	11	12	1	2	1	2	1	0	0	3	3	2	2	2	1	4	1	2	1	3	1			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:153649016G>A	ENST00000299328.5	+	10	1008	c.719G>A	c.(718-720)gGg>gAg	p.G240E	TAZ_ENST00000351413.4_Missense_Mutation_p.G226E|TAZ_ENST00000369790.4_Missense_Mutation_p.G196E|TAZ_ENST00000369776.4_Missense_Mutation_p.G210E|TAZ_ENST00000350743.4_Missense_Mutation_p.G210E|TAZ_ENST00000498029.1_3'UTR	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	240					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGCTGATCGGGAAGCCCTTC	0.642													18	19					0	0	0	0	A	153649016	G	A	153649016	3	1	102	1	0	0	0	0	1	0	0	0	15687	1232	43	4	757	4	TAZ	23	153649016	Missense_Mutation	SNP	G	TCGA-CN-6023-01A-11D-1683-08	2831878	153649016	1621544	119	19640											
F8	2157	broad.mit.edu	37	chrX	154221234	154221234	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctctacatactagtagggctCcaatgaggcctgaattcaag	12	10	9	10	0	2	2	1	2	1	0	3	2	3	2	2	2	2	2	2	2	7	5			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:154221234C>G	ENST00000360256.4	-	4	778	c.578G>C	c.(577-579)gGa>gCa	p.G193A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	193	F5/8 type A 1.|Plastocyanin-like 1.		G -> R (in HEMA; severe familial).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TAGTAGGGCTCCAATGAGGCC	0.413													3	79					0	0	0	0	G	154221234	C	G	154221234	3	3	102	1	0	0	0	0	1	0	0	0	5388	855	30	2	6597	2	F8	23	154221234	Missense_Mutation	SNP	C	TCGA-CN-6023-01A-11D-1683-08	572218	154221234	1049326	120	19641											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887579	12887579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggacagtcctgcactggtGttttgttcctcttggcattg	4	17	11	9	0	1	0	0	0	1	0	3	1	3	1	2	3	1	4	2	3	0	6	rs2486717	by1000genomes	TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:12887579G>T	ENST00000535591.1	-	3	473	c.278C>A	c.(277-279)aCa>aAa	p.T93K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	93								p.T93K(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGCACTGGTGTTTTGTTCCT	0.493													5	44					0.0293803	0.0305661	1	0	T	12887579	G	T	12887579	3	4	103	1	0	0	0	0	1	0	0	0	12503	1377	48	4	1040	4	PRAMEF11	1	12887579	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08		12887579	236363042	1	19642											
CDC20	991	broad.mit.edu	37	chr1	43825057	43825057	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgccggcaggactccgggCcgaactcctggtcagtgagg	7	5	16	13	4	1	1	1	1	0	0	3	3	3	2	4	5	2	1	4	5	1	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:43825057C>T	ENST00000372462.1	+	1	374	c.171C>T	c.(169-171)ggC>ggT	p.G57G	CDC20_ENST00000310955.6_Silent_p.G57G			Q12834	CDC20_HUMAN	cell division cycle 20	57					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|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	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGACTCCGGGCCGAACTCCTG	0.662													20	10					0	0	0	0	T	43825057	C	T	43825057	2	4	103	1	0	0	0	0	0	0	0	1	3088	726	26	4		4	CDC20	1	43825057	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	30937478	43825057	205425564	2	19643											
MAST2	23139	broad.mit.edu	37	chr1	46295227	46295228	+	Frame_Shift_Del	DEL	TC	TC	-																															gaaaccagtcccttggacagTctgcaccttctcttactgct																										TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:46295227_46295228delTC	ENST00000361297.2	+	3	725_726	c.442_443delTC	c.(442-444)tfs	p.S148fs	MAST2_ENST00000372009.2_Frame_Shift_Del_p.S148fs	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	148					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCTTGGACAGTCTGCACCTTCT	0.446													39	32	---	---	---	---					-	46295228	TC	-	46295227	7	5	103	1	0	1	0	1	0	0	0	0	9394	1667	58	0	452	0	MAST2	1	46295227	Frame_Shift_Del	DEL	TC	TCGA-CN-6024-01A-11D-1683-08	2470170	46295227	202955394	3	19644											
RAD54L	8438	broad.mit.edu	37	chr1	46739822	46739822	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccttcaggtacttatacgtCcgcctggatggcacgatgtc	7	11	10	13	3	1	0	1	0	0	0	3	2	2	1	3	3	2	2	3	3	3	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:46739822C>T	ENST00000371975.4	+	15	2297	c.1623C>T	c.(1621-1623)gtC>gtT	p.V541V	RAD54L_ENST00000488942.1_3'UTR|RAD54L_ENST00000442598.1_Silent_p.V541V	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	541	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ACTTATACGTCCGCCTGGATG	0.423								Direct reversal of damage;Homologous recombination					12	15					0	0	0	0	T	46739822	C	T	46739822	2	4	103	1	0	0	0	0	0	0	0	1	13075	842	30	2		2	RAD54L	1	46739822	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	444595	46739822	202510799	4	19645											
CYP4Z1	199974	broad.mit.edu	37	chr1	47583599	47583599	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatgtgtttgcaaaaaaagTttgctaattttaagtccttt	12	17	6	6	0	0	0	0	0	0	0	1	0	1	0	2	0	2	4	2	0	5	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:47583599T>C	ENST00000334194.3	+	12	1514	c.1511T>C	c.(1510-1512)gTt>gCt	p.V504A	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	504						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GCAAAAAAAGTTTGCTAATTT	0.378													13	12					0	0	0	0	C	47583599	T	C	47583599	3	2	103	1	0	0	0	0	1	0	0	0	4226	1725	60	5	1557	5	CYP4Z1	1	47583599	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08	843777	47583599	201667022	5	19646											
LRRC7	57554	broad.mit.edu	37	chr1	70225873	70225873	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttctgcgtttctctaGtgcagtgcctggagatgacc	5	16	11	9	1	2	2	0	1	2	1	3	3	2	2	2	1	3	3	2	1	1	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:70225873G>T	ENST00000310961.5	+	4	419		c.e4-1		LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Splice_Site|LRRC7_ENST00000035383.5_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGTTTCTCTAGTGCAGTGCCT	0.403													12	17					1.08611e-07	1.18857e-07	1	0	T	70225873	G	T	70225873	5	4	103	1	0	0	0	0	0	0	1	0	9084	1044	36	4		4	LRRC7	1	70225873	Splice_Site	SNP	G	TCGA-CN-6024-01A-11D-1683-08	22642274	70225873	179024748	6	19647											
C1orf173	127254	broad.mit.edu	37	chr1	75072415	75072415	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgagctgaaaatttggcTgaaacagaggttttgttctc	10	15	10	6	0	2	4	0	3	2	1	3	4	2	4	0	2	2	4	0	2	3	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:75072415T>A	ENST00000326665.5	-	10	1577	c.1359A>T	c.(1357-1359)tcA>tcT	p.S453S	C1orf173_ENST00000420661.2_Silent_p.S256S|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	453	Glu-rich.									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						AAAATTTGGCTGAAACAGAGG	0.413													93	48					0	0	0	0	A	75072415	T	A	75072415	2	1	103	1	0	0	0	0	0	0	0	1	2033	1567	55	5		5	C1orf173	1	75072415	Silent	SNP	T	TCGA-CN-6024-01A-11D-1683-08	4846542	75072415	174178206	7	19648											
CLCA4	22802	broad.mit.edu	37	chr1	87043754	87043754	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataccaggctgggtagtgaaCggtgagtaactcatgatatt	12	11	12	6	1	1	3	1	3	0	0	1	3	1	3	1	3	3	3	1	3	5	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:87043754C>T	ENST00000370563.3	+	12	2163	c.2122_splice	c.e12+1	p.N707_splice	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	707						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGGTAGTGAACGGTGAGTAAC	0.388													3	7					0	0	0	0	T	87043754	C	T	87043754	5	4	103	1	0	0	0	0	0	0	1	0	3489	550	19	1	2167	1	CLCA4	1	87043754	Splice_Site	SNP	C	TCGA-CN-6024-01A-11D-1683-08	11971339	87043754	162206867	8	19649											
DPYD	1806	broad.mit.edu	37	chr1	98164954	98164954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatatagtgatgtcagaGtaccccaatcgagccaaaaa	17	8	7	9	1	2	2	2	1	0	1	3	3	2	2	3	0	2	1	3	0	7	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:98164954G>A	ENST00000370192.3	-	6	733	c.633C>T	c.(631-633)taC>taT	p.Y211Y	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	211					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGATGTCAGAGTACCCCAATC	0.383													72	40					0	0	0	0	A	98164954	G	A	98164954	2	1	103	1	0	0	0	0	0	0	0	1	4781	1024	36	4		4	DPYD	1	98164954	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	11121200	98164954	151085667	9	19650											
S1PR1	1901	broad.mit.edu	37	chr1	101705292	101705292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagccgcagctctgagaagtCgctggcgctgctcaagaccg	8	6	13	14	4	2	2	1	1	1	2	3	3	2	2	2	1	3	5	2	1	2	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:101705292C>T	ENST00000305352.6	+	2	1127	c.752C>T	c.(751-753)tCg>tTg	p.S251L		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	251				KSL -> NV (in Ref. 1; AAA52336 and 2; AAC51905).	cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCTGAGAAGTCGCTGGCGCTG	0.582													51	49					0	0	0	0	T	101705292	C	T	101705292	3	4	103	1	0	0	0	0	1	0	0	0	13878	893	31	1	754	1	S1PR1	1	101705292	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	3540338	101705292	147545329	10	19651											
KIAA0907	22889	broad.mit.edu	37	chr1	155887376	155887387	+	In_Frame_Del	DEL	GGGGCTGGGGCT	GGGGCTGGGGCT	-																															ctggggctgacttgggagtgGgggctggggctggggctggg																										TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:155887376_155887387delGGGGCTGGGGCT	ENST00000368320.3	-	11	1368_1379	c.1343_1354delAGCCCCAGCCCC	c.(1342-1356)cca>c	p.QPQPP448del	KIAA0907_ENST00000368321.3_In_Frame_Del_p.QPQPP448del			Q7Z7F0	K0907_HUMAN	KIAA0907	448	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTGGGAGTGggggctggggctggggctgggg	0.552													14	75	---	---	---	---					-	155887387	GGGGCTGGGGCT	-	155887376	7	5	103	1	0	1	0	1	0	0	0	0	8250	1232	43	0	506	0	KIAA0907	1	155887376	In_Frame_Del	DEL	GGGGCTGGGGCT	TCGA-CN-6024-01A-11D-1683-08	54182084	155887376	93363245	11	19652											
KIRREL	55243	broad.mit.edu	37	chr1	158064599	158064599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctcaacacctatagcCggggccctgcctctgactat	8	8	8	17	1	2	1	1	1	1	0	2	1	2	1	5	2	4	1	5	2	4	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:158064599C>T	ENST00000368172.1	+	11	1417	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	KIRREL_ENST00000368173.3_Missense_Mutation_p.R671W|KIRREL_ENST00000392272.2_Missense_Mutation_p.R552W|KIRREL_ENST00000416935.2_Missense_Mutation_p.R555W|KIRREL_ENST00000359209.6_Missense_Mutation_p.R655W|KIRREL_ENST00000360089.4_Missense_Mutation_p.R491W			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	655	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CACCTATAGCCGGGGCCCTGC	0.657													13	29					0	0	0	0	T	158064599	C	T	158064599	3	4	103	1	0	0	0	0	1	0	0	0	8376	643	23	1	2021	1	KIRREL	1	158064599	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	2177223	158064599	91186022	12	19653											
ALDH9A1	223	broad.mit.edu	37	chr1	165667675	165667675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccggctccacgcgggcccCgccgcggtaattgagcggct	4	5	15	17	8	0	1	0	1	0	0	1	1	1	1	5	4	1	3	5	4	1	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:165667675C>T	ENST00000354775.4	-	1	425	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	17					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	ACGCGGGCCCCGCCGCGGTAA	0.706													14	24					0	0	0	0	T	165667675	C	T	165667675	3	4	103	1	0	0	0	0	1	0	0	0	506	652	23	1	1479	1	ALDH9A1	1	165667675	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	7603076	165667675	83582946	13	19654											
FMO3	2328	broad.mit.edu	37	chr1	171085379	171085379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccttctatggaagacatGatgaatgatattaatgagaa	15	13	9	4	0	1	5	0	4	1	2	1	7	1	6	1	1	1	0	1	1	6	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:171085379G>A	ENST00000367755.4	+	8	1326	c.1215G>A	c.(1213-1215)atG>atA	p.M405I	FMO3_ENST00000538429.1_Missense_Mutation_p.M342I|FMO3_ENST00000542847.1_Missense_Mutation_p.M385I|FMO3_ENST00000392085.2_Missense_Mutation_p.M405I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	405				PSMEDM -> GPFYGKTL (in Ref. 1; AAA86284).	xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGAAGACATGATGAATGATA	0.358													31	53					0	0	0	0	A	171085379	G	A	171085379	3	1	103	1	0	0	0	0	1	0	0	0	6001	1290	45	2	1241	2	FMO3	1	171085379	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	5417704	171085379	78165242	14	19655											
PAPPA2	60676	broad.mit.edu	37	chr1	176760576	176760576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccaccacccccctcagagCtgaattctgtggagtacaaa	11	7	8	15	0	2	2	1	1	1	1	2	3	2	3	5	1	2	2	5	1	3	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:176760576C>A	ENST00000367662.3	+	19	6142	c.4978C>A	c.(4978-4980)Ctg>Atg	p.L1660M		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1660	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L1660M(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCCTCAGAGCTGAATTCTGT	0.438													25	27					1.42536e-11	1.62898e-11	1	0	A	176760576	C	A	176760576	3	1	103	1	0	0	0	0	1	0	0	0	11504	796	28	4	5101	4	PAPPA2	1	176760576	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	5675197	176760576	72490045	15	19656											
USH2A	7399	broad.mit.edu	37	chr1	215848787	215848787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaggagccagctgagagtCtggaggggcttcatctgtcc	8	9	15	9	0	3	1	1	1	2	1	4	4	4	3	2	4	2	3	2	4	1	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:215848787C>T	ENST00000366943.2	-	63	12852	c.12466G>A	c.(12466-12468)Gac>Aac	p.D4156N	USH2A_ENST00000307340.3_Missense_Mutation_p.D4156N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4156	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCTGAGAGTCTGGAGGGGCT	0.542										HNSCC(13;0.011)			3	62					0	0	0	0	T	215848787	C	T	215848787	3	4	103	1	0	0	0	0	1	0	0	0	17132	913	32	2	3182	2	USH2A	1	215848787	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	39088211	215848787	33401834	16	19657											
AKT3	10000	broad.mit.edu	37	chr1	243778440	243778440	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttaatactctgctttcAgttagagtgtgtgccacttc	7	18	7	9	0	3	1	1	0	2	1	4	1	3	1	1	0	3	2	1	0	3	7			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:243778440A>C	ENST00000366539.1	-	7	785	c.585T>G	c.(583-585)acT>acG	p.T195T	AKT3_ENST00000366540.1_Silent_p.T195T|AKT3_ENST00000492957.1_5'UTR|AKT3_ENST00000263826.5_Silent_p.T195T|AKT3_ENST00000336199.5_Silent_p.T195T			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	195	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CTCTGCTTTCAGTTAGAGTGT	0.294													19	43					0	0	0	0	C	243778440	A	C	243778440	2	2	103	1	0	0	0	0	0	0	0	1	481	175	7	5		5	AKT3	1	243778440	Silent	SNP	A	TCGA-CN-6024-01A-11D-1683-08	27929653	243778440	5472181	17	19658											
AHCTF1	25909	broad.mit.edu	37	chr1	247051786	247051786	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaactgagaaaccagtccAtcaatcatcaagcaatcggg	15	7	7	12	1	3	1	3	1	0	1	5	2	4	1	3	1	3	1	3	1	5	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:247051786A>G	ENST00000366508.1	-	18	2419	c.2283T>C	c.(2281-2283)gaT>gaC	p.D761D	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Silent_p.D726D|AHCTF1_ENST00000326225.3_Silent_p.D735D			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	726	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AAACCAGTCCATCAATCATCA	0.408													32	26					0	0	0	0	G	247051786	A	G	247051786	2	3	103	1	0	0	0	0	0	0	0	1	408	214	8	5		5	AHCTF1	1	247051786	Silent	SNP	A	TCGA-CN-6024-01A-11D-1683-08	3273346	247051786	2198835	18	19659											
ITSN2	50618	broad.mit.edu	37	chr2	24521568	24521568	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagatgaagattcttctttTtagagtttaacctgacaatt	13	16	6	6	0	2	5	0	2	2	3	2	5	2	5	1	0	1	1	1	0	5	8			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:24521568T>C	ENST00000355123.4	-	13	1903	c.1460A>G	c.(1459-1461)aAa>aGa	p.K487R	ITSN2_ENST00000406921.3_Missense_Mutation_p.K487R|ITSN2_ENST00000361999.3_Missense_Mutation_p.K487R	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	487					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCTTCTTTTTAGAGTTTAA	0.373													30	74					0	0	0	0	C	24521568	T	C	24521568	3	2	103	1	0	0	0	0	1	0	0	0	7980	1841	64	5	3796	5	ITSN2	2	24521568	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08		24521568	218677805	19	19660											
EMILIN1	11117	broad.mit.edu	37	chr2	27303763	27303763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctggcccagcctgccCgccccaacctctctggctcc	3	6	9	23	1	1	0	0	0	1	0	3	0	2	0	9	3	3	1	9	3	1	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:27303763C>T	ENST00000380320.4	+	3	953	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	152					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGCCTGCCCGCCCCAACCT	0.667											OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	10					0	0	0	0	T	27303763	C	T	27303763	3	4	103	1	0	0	0	0	1	0	0	0	5131	652	23	1	464	1	EMILIN1	2	27303763	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	2782195	27303763	215895610	20	19661											
IFT172	26160	broad.mit.edu	37	chr2	27706461	27706461	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcactttgttgtcagggaCaccacgtaagactctgtccc	9	11	8	13	1	3	1	2	0	1	1	4	2	4	2	2	1	0	2	2	1	1	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:27706461C>T	ENST00000260570.3	-	6	571	c.468G>A	c.(466-468)gtG>gtA	p.V156V	IFT172_ENST00000416524.2_Silent_p.V135V|IFT172_ENST00000359466.6_Silent_p.V156V	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	156					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTGTCAGGGACACCACGTAAG	0.403													13	41					0	0	0	0	T	27706461	C	T	27706461	2	4	103	1	0	0	0	0	0	0	0	1	7610	465	17	4		4	IFT172	2	27706461	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	402698	27706461	215492912	21	19662											
TRMT61B	55006	broad.mit.edu	37	chr2	29092865	29092865	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggggatgactcttcccgCagcgtcggcagtctgaggtt	6	9	15	11	4	2	2	0	2	2	0	4	4	3	3	1	4	1	3	1	4	0	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:29092865C>T	ENST00000306108.5	-	1	302	c.279G>A	c.(277-279)ctG>ctA	p.L93L		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	93							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						ACTCTTCCCGCAGCGTCGGCA	0.612													15	36					0	0	0	0	T	29092865	C	T	29092865	2	4	103	1	0	0	0	0	0	0	0	1	16665	697	25	4		4	TRMT61B	2	29092865	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	1386404	29092865	214106508	22	19663											
CIAO1	9391	broad.mit.edu	37	chr2	96933414	96933414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtcaagtcagtggcttggGccccatctggcaacctcctg	7	9	12	13	0	3	0	2	0	1	0	4	0	4	0	4	4	1	2	4	4	2	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:96933414G>A	ENST00000488633.1	+	3	559	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	CIAO1_ENST00000469320.1_3'UTR	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	114					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						AGTGGCTTGGGCCCCATCTGG	0.537													4	14					0	0	0	0	A	96933414	G	A	96933414	3	1	103	1	0	0	0	0	1	0	0	0	3447	1203	42	4	350	4	CIAO1	2	96933414	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	67840549	96933414	146265959	23	19664											
SLC9A4	389015	broad.mit.edu	37	chr2	103125363	103125363	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaaaaccaataaaaaaGaatccatcaatgaagagctt	23	8	4	6	0	1	3	1	1	0	2	2	3	2	3	2	0	2	1	2	0	11	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:103125363G>T	ENST00000295269.4	+	6	1916	c.1459G>T	c.(1459-1461)Gaa>Taa	p.E487*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	487					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						CAATAAAAAAGAATCCATCAA	0.353													18	57					3.99206e-14	4.65406e-14	1	0	T	103125363	G	T	103125363	4	4	103	1	0	0	0	0	0	1	0	0	14804	943	33	2	1481	2	SLC9A4	2	103125363	Nonsense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	6191949	103125363	140074010	24	19665											
NCK2	8440	broad.mit.edu	37	chr2	106497977	106497977	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggggtcgcgcgtcaccgtCatggagaagtgcagcgacgg	9	5	17	10	6	2	1	2	0	0	1	3	3	2	1	1	4	2	1	1	4	2	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:106497977C>T	ENST00000233154.4	+	4	862	c.420C>T	c.(418-420)gtC>gtT	p.V140V	NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Silent_p.V140V	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	140	SH3 2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GCGTCACCGTCATGGAGAAGT	0.632													39	49					0	0	0	0	T	106497977	C	T	106497977	2	4	103	1	0	0	0	0	0	0	0	1	10290	813	29	2		2	NCK2	2	106497977	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	3372614	106497977	136701396	25	19666											
CHCHD5	84269	broad.mit.edu	37	chr2	113343977	113343977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctcagttcatctcttttctCcataacatccccttcatcct	7	16	1	17	0	5	0	3	0	2	0	9	0	7	0	5	0	1	1	5	0	1	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:113343977C>T	ENST00000409719.1	+	3	397	c.344C>T	c.(343-345)tCc>tTc	p.S115F	CHCHD5_ENST00000324913.5_Intron			Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	0										NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						TCTCTTTTCTCCATAACATCC	0.557													5	19					0	0	0	0	T	113343977	C	T	113343977	3	4	103	1	0	0	0	0	1	0	0	0	3348	870	30	2		2	CHCHD5	2	113343977	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	6846000	113343977	129855396	26	19667											
LRP1B	53353	broad.mit.edu	37	chr2	141272305	141272305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttagaaatacatttttgtGcggaacaagcaaattggttc	13	13	9	6	1	0	1	0	0	0	1	1	2	0	2	0	2	4	3	0	2	6	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:141272305G>A	ENST00000389484.3	-	51	9157	c.8186C>T	c.(8185-8187)gCa>gTa	p.A2729V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2729	LDL-receptor class A 16.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATTTTTGTGCGGAACAAGC	0.378										TSP Lung(27;0.18)			11	37					0	0	0	0	A	141272305	G	A	141272305	3	1	103	1	0	0	0	0	1	0	0	0	9019	1319	46	4	5777	4	LRP1B	2	141272305	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	27928328	141272305	101927068	27	19668											
NEB	4703	broad.mit.edu	37	chr2	152398013	152398013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaagatcaggagtatcaGgaactgaagtaaagattgac	18	9	10	4	0	2	4	2	2	0	2	2	6	2	6	0	2	1	2	0	2	7	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:152398013G>T	ENST00000397345.3	-	136	20832	c.20630C>A	c.(20629-20631)cCt>cAt	p.P6877H	NEB_ENST00000604864.1_Missense_Mutation_p.P6877H|NEB_ENST00000603639.1_Missense_Mutation_p.P6877H|NEB_ENST00000409198.1_Missense_Mutation_p.P5176H|NEB_ENST00000172853.10_Missense_Mutation_p.P5176H|NEB_ENST00000427231.2_Missense_Mutation_p.P6877H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5176					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGAGTATCAGGAACTGAAGT	0.473													19	81					7.21436e-19	8.71736e-19	1	0	T	152398013	G	T	152398013	3	4	103	1	0	0	0	0	1	0	0	0	10372	1000	35	4	5244	4	NEB	2	152398013	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	11125708	152398013	90801360	28	19669											
RBMS1	5937	broad.mit.edu	37	chr2	161223852	161223852	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctactgttgttattactgctGgtggtgctgggactgggagg	5	14	16	6	0	0	0	0	0	0	0	0	2	0	2	0	5	4	4	0	5	3	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:161223852G>T	ENST00000348849.3	-	2	556	c.126C>A	c.(124-126)acC>acA	p.T42T	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Silent_p.T9T|RBMS1_ENST00000409289.2_Silent_p.T9T|RBMS1_ENST00000409075.1_Silent_p.T9T|RBMS1_ENST00000392753.3_Silent_p.T42T	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	42					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								tattactgctggtggtgctgG	0.552													14	44					1.05317e-09	1.19188e-09	1	0	T	161223852	G	T	161223852	2	4	103	1	0	0	0	0	0	0	0	1	13230	1335	47	4		4	RBMS1	2	161223852	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	8825839	161223852	81975521	29	19670											
TTC21B	79809	broad.mit.edu	37	chr2	166770094	166770094	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaattttacctctagaataTtcatgtatgcatcaccaagg	14	13	6	8	0	3	1	2	0	1	1	3	2	3	1	2	1	2	2	2	1	7	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:166770094T>C	ENST00000243344.7	-	16	2338	c.2201A>G	c.(2200-2202)aAt>aGt	p.N734S		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	734						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTCTAGAATATTCATGTATGC	0.313													16	51					0	0	0	0	C	166770094	T	C	166770094	3	2	103	1	0	0	0	0	1	0	0	0	16784	1493	52	5	1805	5	TTC21B	2	166770094	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08	5546242	166770094	76429279	30	19671											
TTN	7273	broad.mit.edu	37	chr2	179462324	179462324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatttttggcaagaagaGaatagacgccttgatggctc	11	12	10	8	1	1	4	1	1	0	3	2	5	1	4	1	2	0	2	1	2	4	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:179462324G>T	ENST00000589042.1	-	294	57709	c.57485C>A	c.(57484-57486)tCt>tAt	p.S19162Y	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S10222Y|TTN_ENST00000342992.6_Missense_Mutation_p.S16594Y|TTN_ENST00000342175.6_Missense_Mutation_p.S10289Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S17521Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S10097Y|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17521	Ig-like 108.						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)			GGCAAGAAGAGAATAGACGCC	0.398													12	56					0.0809354	0.0838259	1	0	T	179462324	G	T	179462324	3	4	103	1	0	0	0	0	1	0	0	0	16831	942	33	2		2	TTN	2	179462324	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	12692230	179462324	63737049	31	19672											
TTN	7273	broad.mit.edu	37	chr2	179587395	179587395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatcatcaccttgaattcTgaacacagtcttagaagaag	16	11	6	8	0	4	4	2	2	2	2	4	4	4	4	1	0	1	0	1	0	7	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:179587395T>C	ENST00000589042.1	-	76	22455	c.22231A>G	c.(22231-22233)Aga>Gga	p.R7411G	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6167G|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7094G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7094	Ig-like 56.						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)			CCTTGAATTCTGAACACAGTC	0.323													4	21					0	0	0	0	C	179587395	T	C	179587395	3	2	103	1	0	0	0	0	1	0	0	0	16831	1588	55	5	82446	5	TTN	2	179587395	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08	125071	179587395	63611978	32	19673											
CCDC141	285025	broad.mit.edu	37	chr2	179736188	179736188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatgtcattccatttttgtCgtagatctaaaatgaactgg	11	16	7	7	1	3	2	2	1	1	1	5	2	4	2	1	1	1	1	1	1	4	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:179736188C>T	ENST00000420890.2	-	14	2288	c.2171G>A	c.(2170-2172)cGa>cAa	p.R724Q	CCDC141_ENST00000295723.5_Missense_Mutation_p.R149Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	149							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCATTTTTGTCGTAGATCTAA	0.393													33	162					0	0	0	0	T	179736188	C	T	179736188	3	4	103	1	0	0	0	0	1	0	0	0	2800	884	31	1	2221	1	CCDC141	2	179736188	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	148793	179736188	63463185	33	19674											
SESTD1	91404	broad.mit.edu	37	chr2	180036936	180036936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctttaccacacaaacaaGggacacctcagctggaacaa	15	6	8	12	0	1	0	1	0	0	0	1	2	1	2	2	3	4	2	2	3	5	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:180036936G>A	ENST00000428443.3	-	5	596	c.280C>T	c.(280-282)Ctt>Ttt	p.L94F	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	94	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACACAAACAAGGGACACCTCA	0.308													20	58					0	0	0	0	A	180036936	G	A	180036936	3	1	103	1	0	0	0	0	1	0	0	0	14214	1000	35	4	1866	4	SESTD1	2	180036936	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	300748	180036936	63162437	34	19675											
ERBB4	2066	broad.mit.edu	37	chr2	212251875	212251875	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcggtatacaaactggtTctgttaataagagaaacata	16	12	7	6	1	2	1	0	0	2	1	3	2	2	1	0	2	3	3	0	2	7	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:212251875T>G	ENST00000342788.4	-	27	3494	c.3183_splice	c.e27-1	p.N1062_splice	ERBB4_ENST00000436443.1_Splice_Site_p.N1046_splice|ERBB4_ENST00000402597.1_Splice_Site_p.N1052_splice	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1062					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACAAACTGGTTCTGTTAATAA	0.423										TSP Lung(8;0.080)			31	70					0	0	0	0	G	212251875	T	G	212251875	5	3	103	1	0	0	0	0	0	0	1	0	5247	1797	62	5	750	5	ERBB4	2	212251875	Splice_Site	SNP	T	TCGA-CN-6024-01A-11D-1683-08	32214939	212251875	30947498	35	19676											
MRPS25	64432	broad.mit.edu	37	chr3	15100956	15100956	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggtttttgtattgaatcTgaggtatgttgaaaaacaca	14	14	10	3	0	1	3	0	3	1	0	1	3	1	3	0	2	1	4	0	2	6	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:15100956T>A	ENST00000253686.2	-	2	301	c.161A>T	c.(160-162)cAg>cTg	p.Q54L	MRPS25_ENST00000444840.2_Missense_Mutation_p.Q54L|MRPS25_ENST00000449354.2_Missense_Mutation_p.Q54L	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	54					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						GTATTGAATCTGAGGTATGTT	0.423													5	11					0	0	0	0	A	15100956	T	A	15100956	3	1	103	1	0	0	0	0	1	0	0	0	9906	1580	55	5	372	5	MRPS25	3	15100956	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08		15100956	182921474	36	19677											
PTPN23	25930	broad.mit.edu	37	chr3	47450995	47450995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggaccgtgtcctctgtgCactgacagaggccaacgtgc	8	7	12	14	2	1	2	0	1	1	1	2	3	2	3	4	2	3	1	4	2	1	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:47450995C>T	ENST00000265562.4	+	18	1963	c.1886C>T	c.(1885-1887)gCa>gTa	p.A629V	PTPN23_ENST00000431726.1_Missense_Mutation_p.A503V	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	629					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCCTCTGTGCACTGACAGAG	0.597													20	3					0	0	0	0	T	47450995	C	T	47450995	3	4	103	1	0	0	0	0	1	0	0	0	12870	710	25	4	1956	4	PTPN23	3	47450995	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	32350039	47450995	150571435	37	19678											
FAM19A4	151647	broad.mit.edu	37	chr3	68802098	68802098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccgtttgtgaccgctcttCtatgcggttcttattgcagc	5	15	10	11	3	3	1	0	1	3	0	3	2	3	1	2	1	3	4	2	1	2	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:68802098C>T	ENST00000295569.7	-	4	694	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	68						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		GACCGCTCTTCTATGCGGTTC	0.537													21	25					0	0	0	0	T	68802098	C	T	68802098	3	4	103	1	0	0	0	0	1	0	0	0	5577	922	32	2	232	2	FAM19A4	3	68802098	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	21351103	68802098	129220332	38	19679											
ARL6	84100	broad.mit.edu	37	chr3	97503853	97503853	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatagattaagaatggtTgtggccaaagaagaactcga	16	9	12	4	1	0	5	0	1	0	4	1	6	0	5	1	2	1	1	1	2	6	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:97503853T>A	ENST00000463745.1	+	5	786	c.309T>A	c.(307-309)gtT>gtA	p.V103V	ARL6_ENST00000335979.2_Silent_p.V103V|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000394206.1_Silent_p.V103V	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	103					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TAAGAATGGTTGTGGCCAAAG	0.323													28	24					0	0	0	0	A	97503853	T	A	97503853	2	1	103	1	0	0	0	0	0	0	0	1	945	1799	63	5		5	ARL6	3	97503853	Silent	SNP	T	TCGA-CN-6024-01A-11D-1683-08	28701755	97503853	100518577	39	19680											
UROC1	131669	broad.mit.edu	37	chr3	126219567	126219567	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggtccttgaacacagcAgggttggaggccatgaggct	10	7	14	10	0	0	2	0	2	0	0	1	3	1	3	3	5	2	3	3	5	1	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:126219567A>T	ENST00000290868.2	-	11	1169	c.1116T>A	c.(1114-1116)ccT>ccA	p.P372P	UROC1_ENST00000383579.3_Silent_p.P432P	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	372					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGAACACAGCAGGGTTGGAGG	0.597													29	113					0	0	0	0	T	126219567	A	T	126219567	2	4	103	1	0	0	0	0	0	0	0	1	17124	175	7	5		5	UROC1	3	126219567	Silent	SNP	A	TCGA-CN-6024-01A-11D-1683-08	28715714	126219567	71802863	40	19681											
COL6A6	131873	broad.mit.edu	37	chr3	130293063	130293063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggaaacacacacatcggtGctgcactcagggaggtggaa	12	7	13	9	1	1	0	1	0	0	0	2	3	1	3	0	5	3	2	0	5	2	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:130293063G>T	ENST00000358511.6	+	7	3272	c.3241G>T	c.(3241-3243)Gct>Tct	p.A1081S	COL6A6_ENST00000453409.2_Missense_Mutation_p.A1081S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1081	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACACATCGGTGCTGCACTCAG	0.478													12	60					9.31168e-06	9.90968e-06	1	0	T	130293063	G	T	130293063	3	4	103	1	0	0	0	0	1	0	0	0	3733	1319	46	4	3267	4	COL6A6	3	130293063	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	4073496	130293063	67729367	41	19682											
SIAH2	6478	broad.mit.edu	37	chr3	150460290	150460290	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttaatgtctgtagctagaaAgacgatgtcttctccctgaa	11	13	9	8	1	3	3	0	1	3	2	4	4	3	3	1	0	1	3	1	0	5	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:150460290A>T	ENST00000312960.3	-	2	1140	c.613T>A	c.(613-615)Ttt>Att	p.F205I		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	205	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTAGCTAGAAAGACGATGTCT	0.522													15	61					0	0	0	0	T	150460290	A	T	150460290	3	4	103	1	0	0	0	0	1	0	0	0	14388	72	3	5	365	5	SIAH2	3	150460290	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	20167227	150460290	47562140	42	19683											
PPM1L	151742	broad.mit.edu	37	chr3	160474321	160474321	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgatcgactcggggggctTgatgtgctcgaggccgagtt	7	9	16	9	5	0	1	0	1	0	0	3	5	0	1	1	4	2	3	1	4	1	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:160474321T>C	ENST00000498165.1	+	1	326	c.225T>C	c.(223-225)ctT>ctC	p.L75L	PPM1L_ENST00000497343.1_Silent_p.L75L	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	75					protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCGGGGGGCTTGATGTGCTCG	0.597													3	32					0	0	0	0	C	160474321	T	C	160474321	2	2	103	1	0	0	0	0	0	0	0	1	12420	1799	63	5		5	PPM1L	3	160474321	Silent	SNP	T	TCGA-CN-6024-01A-11D-1683-08	10014031	160474321	37548109	43	19684											
SLITRK3	22865	broad.mit.edu	37	chr3	164907251	164907251	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaggctctttaagttGggcaagttgataaaggcccc	12	9	13	7	0	1	2	0	1	1	1	1	3	1	3	2	4	0	4	2	4	5	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:164907251G>T	ENST00000475390.1	-	2	1811	c.1368C>A	c.(1366-1368)ccC>ccA	p.P456P	SLITRK3_ENST00000241274.3_Silent_p.P456P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	456						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCTTTAAGTTGGGCAAGTTGA	0.428										HNSCC(40;0.11)			9	35					3.09899e-07	3.37542e-07	1	0	T	164907251	G	T	164907251	2	4	103	1	0	0	0	0	0	0	0	1	14832	1335	47	4		4	SLITRK3	3	164907251	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	4432930	164907251	33115179	44	19685											
PLD1	5337	broad.mit.edu	37	chr3	171394568	171394568	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagccgccttcccgtggacTgcagaggcaatgtcatgcca	8	7	12	14	3	1	1	1	0	0	1	2	3	2	2	4	2	3	2	4	2	1	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:171394568T>G	ENST00000342215.6	-	16	1839	c.1724A>C	c.(1723-1725)cAg>cCg	p.Q575P	PLD1_ENST00000340989.4_Silent_p.A684A|PLD1_ENST00000351298.4_Silent_p.A684A|PLD1_ENST00000356327.5_Silent_p.A646A			Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	0	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCCCGTGGACTGCAGAGGCAA	0.517													8	33					0	0	0	0	G	171394568	T	G	171394568	3	3	103	1	0	0	0	0	1	0	0	0	12117	1567	55	5	1212	5	PLD1	3	171394568	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08	6487317	171394568	26627862	45	19686											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			26	27					0	0	0	0	G	178952085	A	G	178952085	3	3	103	1	0	0	0	0	1	0	0	0	11985	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	7557517	178952085	19070345	46	19687											
PARL	55486	broad.mit.edu	37	chr3	183547407	183547407	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacttagagccacctcctttTttggggccattagtccttat	7	16	7	11	0	0	1	0	0	0	1	2	1	2	1	5	2	2	0	5	2	4	7			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:183547407T>C	ENST00000317096.4	-	10	1179	c.1119A>G	c.(1117-1119)aaA>aaG	p.K373K	PARL_ENST00000311101.5_Silent_p.K323K|PARL_ENST00000435888.1_Silent_p.K289K	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	373					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CACCTCCTTTTTTGGGGCCAT	0.488													67	182					0	0	0	0	C	183547407	T	C	183547407	2	2	103	1	0	0	0	0	0	0	0	1	11522	1838	64	5		5	PARL	3	183547407	Silent	SNP	T	TCGA-CN-6024-01A-11D-1683-08	4595322	183547407	14475023	47	19688											
CD38	952	broad.mit.edu	37	chr4	15835919	15835919	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtattctggaaaacggtttcCcgcagggtaagtaccaagta	12	10	11	8	2	1	0	0	0	1	0	2	1	2	1	2	3	2	6	2	3	7	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:15835919C>A	ENST00000226279.2	+	4	716	c.579C>A	c.(577-579)tcC>tcA	p.S193S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	193					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						AAACGGTTTCCCGCAGGGTAA	0.403													9	30					0.000274275	0.000290556	1	0	A	15835919	C	A	15835919	2	1	103	1	0	0	0	0	0	0	0	1	3038	610	22	4		4	CD38	4	15835919	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08		15835919	175318357	48	19689											
GABRG1	2565	broad.mit.edu	37	chr4	46067515	46067515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttttccaaccatattactGttaagcataagcactttcat	13	16	3	9	0	1	0	1	0	0	0	2	0	2	0	2	0	4	3	2	0	5	7	rs144076673		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:46067515G>T	ENST00000295452.4	-	4	575	c.408C>A	c.(406-408)aaC>aaA	p.N136K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	136					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCATATTACTGTTAAGCATAA	0.328													7	36					5.18039e-06	5.56412e-06	1	0	T	46067515	G	T	46067515	3	4	103	1	0	0	0	0	1	0	0	0	6219	1368	48	4	1013	4	GABRG1	4	46067515	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	30231596	46067515	145086761	49	19690											
CORIN	10699	broad.mit.edu	37	chr4	47667085	47667085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcctgtattcacatcaCattttggtaccaaaatggtg	10	13	8	10	1	2	0	2	0	0	0	3	0	2	0	2	2	1	3	2	2	4	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:47667085C>T	ENST00000273857.4	-	11	1552	c.1553G>A	c.(1552-1554)tGt>tAt	p.C518Y	CORIN_ENST00000505909.1_Missense_Mutation_p.C481Y|CORIN_ENST00000508498.1_Missense_Mutation_p.C379Y|CORIN_ENST00000504584.1_Missense_Mutation_p.C481Y|CORIN_ENST00000502252.1_Missense_Mutation_p.C451Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	518	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ATTCACATCACATTTTGGTAC	0.443													17	44					0	0	0	0	T	47667085	C	T	47667085	3	4	103	1	0	0	0	0	1	0	0	0	3782	478	17	4	1623	4	CORIN	4	47667085	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	1599570	47667085	143487191	50	19691											
BDH2	56898	broad.mit.edu	37	chr4	104016422	104016422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtggctatgactttggcaCcttctcttgcaaaagcctag	8	13	9	11	0	1	1	0	1	1	0	2	1	1	1	2	2	2	3	2	2	4	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:104016422C>A	ENST00000296424.4	-	3	209	c.89G>T	c.(88-90)gGt>gTt	p.G30V		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	30					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		GACTTTGGCACCTTCTCTTGC	0.403													24	36					1.64293e-13	1.9058e-13	1	0	A	104016422	C	A	104016422	3	1	103	1	0	0	0	0	1	0	0	0	1395	507	18	4	680	4	BDH2	4	104016422	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	56349337	104016422	87137854	51	19692											
C4orf21	55345	broad.mit.edu	37	chr4	113553143	113553143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccacacttttgacttcttCatcttttgatgagtatatag	9	18	6	8	0	3	3	1	3	2	0	3	3	3	3	1	0	1	1	1	0	3	9			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:113553143C>T	ENST00000505019.1	-	3	170	c.45G>A	c.(43-45)atG>atA	p.M15I	C4orf21_ENST00000445203.2_5'UTR|C4orf21_ENST00000309071.5_Missense_Mutation_p.M15I	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	15										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTGACTTCTTCATCTTTTGAT	0.318													26	10					0	0	0	0	T	113553143	C	T	113553143	3	4	103	1	0	0	0	0	1	0	0	0	2275	826	29	2	6373	2	C4orf21	4	113553143	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	9536721	113553143	77601133	52	19693											
PCDH10	57575	broad.mit.edu	37	chr4	134084195	134084195	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccactcagatcggtgctGgatgccttcttttgtccctt	4	14	11	12	1	2	1	1	0	1	1	4	2	3	2	3	3	2	1	3	3	0	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:134084195G>A	ENST00000264360.4	+	4	3687	c.2861G>A	c.(2860-2862)tGg>tAg	p.W954*		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	954					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GATCGGTGCTGGATGCCTTCT	0.488													34	26					0	0	0	0	A	134084195	G	A	134084195	4	1	103	1	0	0	0	0	0	1	0	0	11578	1357	47	4	2935	4	PCDH10	4	134084195	Nonsense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	20531052	134084195	57070081	53	19694											
FAT1	2195	broad.mit.edu	37	chr4	187532702	187532705	+	Frame_Shift_Del	DEL	CAAA	CAAA	-																															ggcaccatattcacggtactCaaacacaggggggttgtcat																										TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:187532702_187532705delCAAA	ENST00000441802.2	-	14	9897_9900	c.9688_9691delTTTG	c.(9688-9693)agfs	p.FE3230fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3230	Cadherin 29.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.F3230S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCACGGTACTCAAACACAGGGGGG	0.471										HNSCC(5;0.00058)			22	15	---	---	---	---					-	187532705	CAAA	-	187532702	7	5	103	1	0	1	0	1	0	0	0	0	5734	835	29	0	4131	0	FAT1	4	187532702	Frame_Shift_Del	DEL	CAAA	TCGA-CN-6024-01A-11D-1683-08	53448507	187532702	3621574	54	19695											
SLC6A3	6531	broad.mit.edu	37	chr5	1432743	1432743	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggagaagagatagtgcagCgcccaggcgatgatgacgtt	12	6	16	7	3	0	4	0	2	0	2	0	8	0	4	1	2	2	2	1	2	2	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:1432743C>A	ENST00000270349.9	-	4	616	c.489G>T	c.(487-489)gcG>gcT	p.A163A	SLC6A3_ENST00000453492.2_Silent_p.A163A	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	163					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GATAGTGCAGCGCCCAGGCGA	0.587													8	22					5.18039e-06	5.56412e-06	1	0	A	1432743	C	A	1432743	2	1	103	1	0	0	0	0	0	0	0	1	14773	755	27	3		3	SLC6A3	5	1432743	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08		1432743	179482517	55	19696											
CTNND2	1501	broad.mit.edu	37	chr5	11565110	11565110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcatcgctccagctggCtggctacgatctgccgttca	5	11	11	14	3	2	0	1	0	1	0	4	1	3	0	2	2	4	7	2	2	1	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:11565110C>T	ENST00000304623.8	-	3	422	c.233G>A	c.(232-234)aGc>aAc	p.S78N	CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.S78N	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	78					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCCAGCTGGCTGGCTACGAT	0.517													16	15					0	0	0	0	T	11565110	C	T	11565110	3	4	103	1	0	0	0	0	1	0	0	0	4052	797	28	4	3524	4	CTNND2	5	11565110	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	10132367	11565110	169350150	56	19697											
MYO10	4651	broad.mit.edu	37	chr5	16877787	16877787	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagtacttggaaaatgctgGccattttctctcagccagac	11	11	8	11	0	2	1	1	0	1	1	3	2	2	2	2	2	3	2	2	2	3	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:16877787G>T	ENST00000513610.1	-	2	505	c.51C>A	c.(49-51)ggC>ggA	p.G17G	MYO10_ENST00000507288.1_Silent_p.G17G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	17	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GAAAATGCTGGCCATTTTCTC	0.458													12	20					2.80697e-09	3.13086e-09	1	0	T	16877787	G	T	16877787	2	4	103	1	0	0	0	0	0	0	0	1	10132	1190	42	4		4	MYO10	5	16877787	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	5312677	16877787	164037473	57	19698											
PRDM9	56979	broad.mit.edu	37	chr5	23526849	23526849	+	Missense_Mutation	SNP	T	T	A																															gacacatacaggggagaagcTctacgtctgcagggagtgtg																										TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:23526849T>A	ENST00000296682.3	+	11	1834	c.1652T>A	c.(1651-1653)cTc>cAc	p.L551H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	551					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGGAGAAGCTCTACGTCTGC	0.488										HNSCC(3;0.000094)			32	58					0	0	0	0	A	23526849	T	A	23526849	3	1	103	1	0	0	0	0	1	0	0	0	12543	1551	54	5	1690	5	PRDM9	5	23526849	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08	6649062	23526849	157388411	58	19699	160	2									
PRDM9	56979	broad.mit.edu	37	chr5	23526850	23526850	+	Silent	SNP	C	C	T																															acacatacaggggagaagctCtacgtctgcagggagtgtgg																										TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:23526850C>T	ENST00000296682.3	+	11	1835	c.1653C>T	c.(1651-1653)ctC>ctT	p.L551L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	551					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGAGAAGCTCTACGTCTGCA	0.488										HNSCC(3;0.000094)			34	57					0	0	0	0	T	23526850	C	T	23526850	2	4	103	1	0	0	0	0	0	0	0	1	12543	900	32	2		2	PRDM9	5	23526850	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	1	23526850	157388410	59	19700	160	2									
CDH6	1004	broad.mit.edu	37	chr5	31294222	31294222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacccgtttacatccttcgaGctcaagctataaacagaagg	14	9	7	11	2	1	1	1	0	0	1	3	2	2	1	2	1	5	3	2	1	7	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:31294222G>T	ENST00000265071.2	+	3	647	c.382G>T	c.(382-384)Gct>Tct	p.A128S	CDH6_ENST00000514738.1_Missense_Mutation_p.A73S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	128	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CATCCTTCGAGCTCAAGCTAT	0.453													24	117					3.7963e-18	4.53991e-18	1	0	T	31294222	G	T	31294222	3	4	103	1	0	0	0	0	1	0	0	0	3143	971	34	4	388	4	CDH6	5	31294222	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	7767372	31294222	149621038	60	19701											
RXFP3	51289	broad.mit.edu	37	chr5	33937766	33937766	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaccaaaggaggggccgcGgtagccggaggacgcccgac	9	1	19	12	5	0	0	0	0	0	0	0	5	0	4	4	7	1	1	4	7	2	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:33937766G>A	ENST00000330120.3	+	1	1276	c.921G>A	c.(919-921)gcG>gcA	p.A307A		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	307						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GAGGGGCCGCGGTAGCCGGAG	0.652													6	7					0	0	0	0	A	33937766	G	A	33937766	2	1	103	1	0	0	0	0	0	0	0	1	13846	1103	39	1		1	RXFP3	5	33937766	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	2643544	33937766	146977494	61	19702											
WDR70	55100	broad.mit.edu	37	chr5	37605263	37605263	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcattcccactacgtgcAcatatagtagagatggaaac	15	9	8	9	1	1	1	1	0	0	1	2	3	2	2	1	1	3	2	1	1	6	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:37605263A>T	ENST00000265107.4	+	10	1171	c.1015A>T	c.(1015-1017)Aca>Tca	p.T339S	WDR70_ENST00000504564.1_Missense_Mutation_p.T339S|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	339										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACTACGTGCACATATAGTAG	0.418													21	54					0	0	0	0	T	37605263	A	T	37605263	3	4	103	1	0	0	0	0	1	0	0	0	17417	159	6	5	1053	5	WDR70	5	37605263	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	3667497	37605263	143309997	62	19703											
COL4A3BP	10087	broad.mit.edu	37	chr5	74722212	74722212	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acaccttgaatgaagaggtgGatgttgcagagtagccactt	12	10	12	7	0	0	4	0	2	0	2	0	5	0	5	2	2	2	3	2	2	3	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:74722212G>C	ENST00000380494.5	-	5	1117	c.824C>G	c.(823-825)tCc>tGc	p.S275C	COL4A3BP_ENST00000405807.4_Missense_Mutation_p.S147C|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.S147C	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	147					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TGAAGAGGTGGATGTTGCAGA	0.398													9	31					0	0	0	0	C	74722212	G	C	74722212	3	2	103	1	0	0	0	0	1	0	0	0	3722	1174	41	2	1490	2	COL4A3BP	5	74722212	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	37116949	74722212	106193048	63	19704											
IQGAP2	10788	broad.mit.edu	37	chr5	75886317	75886317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacactaagaaacccaaatgCggttttaactttagtggatg	15	11	8	7	1	0	1	0	0	0	1	0	2	0	2	1	2	4	1	1	2	6	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:75886317C>T	ENST00000274364.6	+	8	1022	c.725C>T	c.(724-726)gCg>gTg	p.A242V	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	242					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AACCCAAATGCGGTTTTAACT	0.378													28	25					0	0	0	0	T	75886317	C	T	75886317	3	4	103	1	0	0	0	0	1	0	0	0	7868	768	27	1	755	1	IQGAP2	5	75886317	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	1164105	75886317	105028943	64	19705											
PCDHA7	56141	broad.mit.edu	37	chr5	140215095	140215095	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattgattagcgtgtttgAccgagattttggagtcaacg	10	13	11	7	3	1	3	1	2	0	1	1	5	1	4	1	1	2	1	1	1	2	5	rs145294768		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:140215095A>T	ENST00000525929.1	+	1	1127	c.1127A>T	c.(1126-1128)gAc>gTc	p.D376V	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.D376V|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTGTTTGACCGAGATTTT	0.502													24	61					0	0	0	0	T	140215095	A	T	140215095	3	4	103	1	0	0	0	0	1	0	0	0	11600	275	10	5	1129	5	PCDHA7	5	140215095	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	64328778	140215095	40700165	65	19706											
PCDHA7	56141	broad.mit.edu	37	chr5	140215144	140215144	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctccctgacgccccgCgttcccttcaagttggtgtc	4	11	9	17	3	1	1	1	1	0	0	4	1	3	1	5	1	1	3	5	1	1	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:140215144C>T	ENST00000525929.1	+	1	1176	c.1176C>T	c.(1174-1176)cgC>cgT	p.R392R	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.R392R|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCCCCGCGTTCCCTTCA	0.537													27	88					0	0	0	0	T	140215144	C	T	140215144	2	4	103	1	0	0	0	0	0	0	0	1	11600	755	27	1		1	PCDHA7	5	140215144	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	49	140215144	40700116	66	19707											
PCDHB6	56130	broad.mit.edu	37	chr5	140530019	140530019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgggggagctggcttcgCggggcgctcgggttgttttc	1	11	21	8	4	0	0	0	0	0	0	3	1	0	1	0	7	1	5	0	7	0	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:140530019C>T	ENST00000231136.1	+	1	181	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		61	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGCTTCGCGGGGCGCTCG	0.507													24	51					0	0	0	0	T	140530019	C	T	140530019	3	4	103	1	0	0	0	0	1	0	0	0	11617	759	27	1	183	1	PCDHB6	5	140530019	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	314875	140530019	40385241	67	19708											
DIAPH1	1729	broad.mit.edu	37	chr5	140908052	140908052	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacatgggcaagctcgTctggaaacttgaggacatcg	10	9	11	11	2	2	1	0	1	2	0	5	3	2	3	1	3	2	2	1	3	2	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:140908052T>A	ENST00000253811.6	-	23	3259	c.3119A>T	c.(3118-3120)gAc>gTc	p.D1040V	DIAPH1_ENST00000398557.4_Missense_Mutation_p.D1039V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.D982V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.D1015V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.D1031V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.D1036V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.D1030V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.D1027V			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1039	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAAGCTCGTCTGGAAACTT	0.498													22	17					0	0	0	0	A	140908052	T	A	140908052	3	1	103	1	0	0	0	0	1	0	0	0	4555	1667	58	5	726	5	DIAPH1	5	140908052	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08	378033	140908052	40007208	68	19709											
PCDH12	51294	broad.mit.edu	37	chr5	141336084	141336084	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgatctgaatgctgagctGtttcttggctgataagggct	8	14	12	7	0	2	4	0	4	2	0	2	4	2	4	0	2	2	5	0	2	2	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:141336084G>A	ENST00000231484.3	-	1	2543	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	445	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCTGAGCTGTTTCTTGGCT	0.488													32	70					0	0	0	0	A	141336084	G	A	141336084	4	1	103	1	0	0	0	0	0	1	0	0	11581	1386	48	4	2237	4	PCDH12	5	141336084	Nonsense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	428032	141336084	39579176	69	19710											
LARS	51520	broad.mit.edu	37	chr5	145506097	145506097	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgttgtcaggcagtttTccgttattggcctaagaaaa	10	15	9	7	1	1	1	1	0	0	1	2	1	2	1	2	2	0	4	2	2	4	7			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:145506097T>A	ENST00000394434.2	-	28	3058	c.2892A>T	c.(2890-2892)ggA>ggT	p.G964G	LARS_ENST00000545646.1_Silent_p.G918G|LARS_ENST00000274562.9_Silent_p.G937G|LARS_ENST00000510191.1_Silent_p.G910G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	964					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAGGCAGTTTTCCGTTATTGG	0.408													31	9					0	0	0	0	A	145506097	T	A	145506097	2	1	103	1	0	0	0	0	0	0	0	1	8687	1770	62	5		5	LARS	5	145506097	Silent	SNP	T	TCGA-CN-6024-01A-11D-1683-08	4170013	145506097	35409163	70	19711											
CCNJL	79616	broad.mit.edu	37	chr5	159686758	159686758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaacttggggacgtggtCttcccgatcctcgaacttac	7	11	9	14	3	1	0	0	0	1	0	5	3	4	1	3	3	3	0	3	3	3	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:159686758C>A	ENST00000393977.3	-	5	730	c.445G>T	c.(445-447)Gac>Tac	p.D149Y	CCNJL_ENST00000541762.1_Missense_Mutation_p.D100Y|CCNJL_ENST00000257536.7_Missense_Mutation_p.D101Y|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000519673.1_Missense_Mutation_p.D101Y	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	149	Cyclin N-terminal.					nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGACGTGGTCTTCCCGATCC	0.557													29	24					1.88708e-17	2.23369e-17	1	0	A	159686758	C	A	159686758	3	1	103	1	0	0	0	0	1	0	0	0	2958	913	32	2	874	2	CCNJL	5	159686758	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	14180661	159686758	21228502	71	19712											
RNF130	55819	broad.mit.edu	37	chr5	179440200	179440200	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaagttcttcggtggcAttcgagttccaacagctatt	8	13	11	9	2	1	1	0	1	1	0	4	2	2	1	1	3	2	5	1	3	3	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:179440200A>T	ENST00000522208.2	-	3	572	c.554T>A	c.(553-555)aTg>aAg	p.M185K	RNF130_ENST00000521389.1_Missense_Mutation_p.M185K|RNF130_ENST00000261947.4_Missense_Mutation_p.M185K			Q86XS8	GOLI_HUMAN	ring finger protein 130	185					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCGGTGGCATTCGAGTTCC	0.373													26	74					0	0	0	0	T	179440200	A	T	179440200	3	4	103	1	0	0	0	0	1	0	0	0	13523	217	8	5	733	5	RNF130	5	179440200	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	19753442	179440200	1475060	72	19713											
EXOC2	55770	broad.mit.edu	37	chr6	556005	556005	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcctgtgttttaggttgTtggaagacctgtaaggaaga	9	14	12	6	0	0	2	0	0	0	2	2	4	2	4	3	3	0	4	3	3	4	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:556005T>C	ENST00000230449.4	-	19	2076	c.1941A>G	c.(1939-1941)caA>caG	p.Q647Q	EXOC2_ENST00000448181.3_Silent_p.Q242Q	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	647					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTTTAGGTTGTTGGAAGACCT	0.338													34	40					0	0	0	0	C	556005	T	C	556005	2	2	103	1	0	0	0	0	0	0	0	1	5339	1722	60	5		5	EXOC2	6	556005	Silent	SNP	T	TCGA-CN-6024-01A-11D-1683-08		556005	170559062	73	19714											
SYCP2L	221711	broad.mit.edu	37	chr6	10907904	10907904	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttcaaagaaattaaggatcGagaatttgagacggtgagat	16	11	11	3	2	1	4	1	2	0	4	2	8	1	5	0	2	0	0	0	2	4	3	rs143568506	by1000genomes	TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:10907904G>C	ENST00000283141.6	+	10	1102	c.806G>C	c.(805-807)cGa>cCa	p.R269P	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.R110P	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	269						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATTAAGGATCGAGAATTTGAG	0.403													35	53					0	0	0	0	C	10907904	G	C	10907904	3	2	103	1	0	0	0	0	1	0	0	0	15524	1058	37	3	844	3	SYCP2L	6	10907904	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	10351899	10907904	160207163	74	19715											
BMP5	653	broad.mit.edu	37	chr6	55620386	55620386	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatattttttcaaaatgacaTtggagctgtcatcaaagtac	14	15	6	6	0	3	1	3	1	0	0	3	2	3	2	0	1	2	2	0	1	6	7			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:55620386T>A	ENST00000370830.3	-	7	2008	c.1310A>T	c.(1309-1311)aAt>aTt	p.N437I	BMP5_ENST00000446683.2_Missense_Mutation_p.N400I	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	437					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CAAAATGACATTGGAGCTGTC	0.353													28	35					0	0	0	0	A	55620386	T	A	55620386	3	1	103	1	0	0	0	0	1	0	0	0	1468	1493	52	5	58	5	BMP5	6	55620386	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08	44712482	55620386	115494681	75	19716											
LAMA4	3910	broad.mit.edu	37	chr6	112513043	112513043	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggggtttccatagtaaccGggagcacatctgaagaggaa	14	7	13	7	1	1	2	0	1	1	1	2	4	2	4	2	4	2	3	2	4	5	3	rs140249081		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:112513043G>A	ENST00000230538.7	-	6	910	c.513C>T	c.(511-513)ccC>ccT	p.P171P	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000389463.4_Silent_p.P171P|LAMA4_ENST00000522006.1_Silent_p.P171P|LAMA4_ENST00000424408.2_Silent_p.P171P	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	171	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.P171P(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATAGTAACCGGGAGCACATC	0.378													6	22					0	0	0	0	A	112513043	G	A	112513043	2	1	103	1	0	0	0	0	0	0	0	1	8661	1103	39	1		1	LAMA4	6	112513043	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	56892657	112513043	58602024	76	19717											
MAP3K5	4217	broad.mit.edu	37	chr6	136977517	136977517	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccaaaagtccacaagttcTtgcttggccacaggctgttc	10	11	8	12	0	1	0	0	0	1	0	4	0	3	0	3	2	1	4	3	2	3	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:136977517T>C	ENST00000359015.4	-	10	1968	c.1608A>G	c.(1606-1608)caA>caG	p.Q536Q	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	536					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CCACAAGTTCTTGCTTGGCCA	0.393													45	94					0	0	0	0	C	136977517	T	C	136977517	2	2	103	1	0	0	0	0	0	0	0	1	9322	1606	56	5		5	MAP3K5	6	136977517	Silent	SNP	T	TCGA-CN-6024-01A-11D-1683-08	24464474	136977517	34137550	77	19718											
OLIG3	167826	broad.mit.edu	37	chr6	137814642	137814642	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccagctgcagcgcgggCggcgtggagggcgccttgag	4	5	19	13	5	0	1	0	1	0	0	0	2	0	2	2	4	4	2	2	4	0	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:137814642C>T	ENST00000367734.2	-	1	889	c.666G>A	c.(664-666)ccG>ccA	p.P222P		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GCAGCGCGGGCGGCGTGGAGG	0.711													3	2					0	0	0	0	T	137814642	C	T	137814642	2	4	103	1	0	0	0	0	0	0	0	1	10933	755	27	1		1	OLIG3	6	137814642	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	837125	137814642	33300425	78	19719											
FBXO30	84085	broad.mit.edu	37	chr6	146127529	146127529	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacaatgggaatgctgcaGctcctcctccataatggcca	11	8	8	14	0	0	0	0	0	0	0	3	1	3	1	4	2	3	3	4	2	3	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:146127529G>A	ENST00000237281.4	-	2	179	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	5							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GAATGCTGCAGCTCCTCCTCC	0.413													10	24					0	0	0	0	A	146127529	G	A	146127529	2	1	103	1	0	0	0	0	0	0	0	1	5785	962	34	4		4	FBXO30	6	146127529	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	8312887	146127529	24987538	79	19720											
PDE10A	10846	broad.mit.edu	37	chr6	165752811	165752811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttgtctctgtccatcatagGaataggctgtattcccaatt	9	15	7	10	0	2	0	1	0	1	0	5	1	4	1	2	2	0	2	2	2	5	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:165752811G>A	ENST00000366882.1	-	21	2258	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S	PDE10A_ENST00000539869.2_Missense_Mutation_p.P712S|PDE10A_ENST00000354448.4_Missense_Mutation_p.P702S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	702					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TCCATCATAGGAATAGGCTGT	0.353													22	61					0	0	0	0	A	165752811	G	A	165752811	3	1	103	1	0	0	0	0	1	0	0	0	11701	1174	41	2	247	2	PDE10A	6	165752811	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	19625282	165752811	5362256	80	19721											
DLL1	28514	broad.mit.edu	37	chr6	170592411	170592411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgcgtccctgacggcGgtgtcgtcacccttgaggtc	3	10	14	14	5	1	2	1	2	0	0	4	2	2	2	2	3	1	0	2	3	0	1	rs140596420		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:170592411G>A	ENST00000366756.3	-	9	2289	c.1956C>T	c.(1954-1956)acC>acT	p.T652T		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	652					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CCCTGACGGCGGTGTCGTCAC	0.662													8	35					0	0	0	0	A	170592411	G	A	170592411	2	1	103	1	0	0	0	0	0	0	0	1	4603	1103	39	1		1	DLL1	6	170592411	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	4839600	170592411	522656	81	19722											
MIOS	54468	broad.mit.edu	37	chr7	7628164	7628164	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtacgtgacagagtggcAtttgcttgtaaattccttag	10	13	11	7	1	0	2	0	1	0	1	1	2	1	2	1	1	2	5	1	1	4	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:7628164A>G	ENST00000340080.4	+	8	2275	c.1854A>G	c.(1852-1854)gcA>gcG	p.A618A	MIOS_ENST00000405785.1_Silent_p.A618A	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	618										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAGAGTGGCATTTGCTTGTA	0.348													27	36					0	0	0	0	G	7628164	A	G	7628164	2	3	103	1	0	0	0	0	0	0	0	1	9658	204	8	5		5	MIOS	7	7628164	Silent	SNP	A	TCGA-CN-6024-01A-11D-1683-08		7628164	151510499	82	19723											
AMPH	273	broad.mit.edu	37	chr7	38530702	38530702	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgttagcaaggacccaTccacgagtttttgatggaag	11	10	11	9	1	0	1	0	1	0	0	1	4	1	3	3	2	1	3	3	2	3	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:38530702T>C	ENST00000356264.2	-	5	559	c.344A>G	c.(343-345)gAt>gGt	p.D115G	AMPH_ENST00000428293.2_Missense_Mutation_p.D115G|AMPH_ENST00000325590.5_Missense_Mutation_p.D115G	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	115	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CAAGGACCCATCCACGAGTTT	0.398													42	174					0	0	0	0	C	38530702	T	C	38530702	3	2	103	1	0	0	0	0	1	0	0	0	588	1435	50	5	1811	5	AMPH	7	38530702	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08	30902538	38530702	120607961	83	19724											
ZNF479	90827	broad.mit.edu	37	chr7	57188062	57188062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccacattcttcacaggCatagggtttctctctagtat	8	15	8	10	0	4	0	1	0	3	0	5	0	4	0	1	3	0	3	1	3	3	7			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:57188062C>T	ENST00000331162.4	-	5	1330	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTTCACAGGCATAGGGTTTC	0.443													4	11					0	0	0	0	T	57188062	C	T	57188062	3	4	103	1	0	0	0	0	1	0	0	0	18028	710	25	4	518	4	ZNF479	7	57188062	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	18657360	57188062	101950601	84	19725											
SRCRB4D	136853	broad.mit.edu	37	chr7	76021316	76021316	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgggcacccgcgtggtcTcagaaccatcctgctggact	7	8	13	13	2	1	1	1	0	1	1	3	3	2	2	3	3	2	2	3	3	1	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:76021316T>A	ENST00000275560.3	-	10	1723	c.1376A>T	c.(1375-1377)gAg>gTg	p.E459V	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	459						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CCGCGTGGTCTCAGAACCATC	0.592													5	10					0	0	0	0	A	76021316	T	A	76021316	3	1	103	1	0	0	0	0	1	0	0	0	15227	1551	54	5	359	5	SRCRB4D	7	76021316	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08	18833254	76021316	83117347	85	19726											
PON1	5444	broad.mit.edu	37	chr7	94931578	94931578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcatgccattgggatggcatCcaacccaaaggtctcctgtc	9	10	9	13	0	2	0	1	0	1	0	5	1	3	1	4	3	2	1	4	3	2	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:94931578C>G	ENST00000222381.3	-	8	1079	c.848G>C	c.(847-849)gGa>gCa	p.G283A	PON1_ENST00000542556.1_Missense_Mutation_p.G283A	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	283					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GGGATGGCATCCAACCCAAAG	0.388													13	65					0	0	0	0	G	94931578	C	G	94931578	3	3	103	1	0	0	0	0	1	0	0	0	12320	855	30	2	227	2	PON1	7	94931578	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	18910262	94931578	64207085	86	19727											
ARPC1A	10552	broad.mit.edu	37	chr7	98931012	98931012	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttactagagccaatcacCtgtcatgcctggaacaggga	11	11	9	10	0	2	1	2	0	0	1	2	3	2	3	3	2	4	0	3	2	4	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:98931012C>T	ENST00000262942.5	+	2	160	c.36C>T	c.(34-36)acC>acT	p.T12T	ARPC1A_ENST00000432884.2_5'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	12					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCAATCACCTGTCATGCCT	0.343													14	32					0	0	0	0	T	98931012	C	T	98931012	2	4	103	1	0	0	0	0	0	0	0	1	973	668	24	4		4	ARPC1A	7	98931012	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	3999434	98931012	60207651	87	19728											
CTTNBP2	83992	broad.mit.edu	37	chr7	117351772	117351772	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaactcttgaaacacccAactcagtctttgatttactg	12	15	4	10	0	3	2	1	2	2	0	3	2	3	2	1	0	4	0	1	0	4	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:117351772A>T	ENST00000160373.3	-	23	4902	c.4811T>A	c.(4810-4812)tTg>tAg	p.L1604*	CFTR_ENST00000429014.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1604										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGAAACACCCAACTCAGTCTT	0.423													60	54					0	0	0	0	T	117351772	A	T	117351772	4	4	103	1	0	0	0	0	0	1	0	0	4077	131	5	5	184	5	CTTNBP2	7	117351772	Nonsense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	18420760	117351772	41786891	88	19729											
CADPS2	93664	broad.mit.edu	37	chr7	122091450	122091450	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaatggcttatctgattttCtaaaagggaagagagtctct	13	13	10	5	0	3	2	0	1	3	1	4	5	3	3	0	2	0	1	0	2	5	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:122091450C>G	ENST00000334010.7	-	14	2690	c.2269G>C	c.(2269-2271)Gaa>Caa	p.E757Q	CADPS2_ENST00000313070.7_Missense_Mutation_p.E753Q|CADPS2_ENST00000412584.2_Missense_Mutation_p.E753Q|CADPS2_ENST00000449022.2_Missense_Mutation_p.E756Q	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	756	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ATCTGATTTTCTAAAAGGGAA	0.299													5	30					0	0	0	0	G	122091450	C	G	122091450	3	3	103	1	0	0	0	0	1	0	0	0	2596	922	32	2	1732	2	CADPS2	7	122091450	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	4739678	122091450	37047213	89	19730											
TRIM24	8805	broad.mit.edu	37	chr7	138252382	138252382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagatggctttcttggctCaacaagccataaaacaggta	14	10	8	9	0	2	1	1	0	1	1	2	1	2	1	1	3	4	3	1	3	6	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:138252382C>A	ENST00000343526.4	+	10	1902	c.1687C>A	c.(1687-1689)Caa>Aaa	p.Q563K	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.Q529K			O15164	TIF1A_HUMAN	tripartite motif containing 24	563					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTTCTTGGCTCAACAAGCCAT	0.388													10	44					5.61819e-17	6.61634e-17	1	0	A	138252382	C	A	138252382	3	1	103	1	0	0	0	0	1	0	0	0	16593	827	29	2	1725	2	TRIM24	7	138252382	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	16160932	138252382	20886281	90	19731											
SSPO	23145	broad.mit.edu	37	chr7	149474828	149474828	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taccgcacctttgatggccgCcactatcacttcctgggccg	6	10	9	16	3	1	1	1	1	0	0	2	1	2	1	6	2	1	1	6	2	2	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:149474828C>T	ENST00000378016.2	+	0	627							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGATGGCCGCCACTATCACT	0.697													12	13					0	0	0	0	T	149474828	C	T	149474828	1	4	103	0	1	0	0	0	0	0	0	0	15279	726	26	4		4	SSPO	7	149474828	RNA	SNP	C	TCGA-CN-6024-01A-11D-1683-08	11222446	149474828	9663835	91	19732											
RP1	6101	broad.mit.edu	37	chr8	55541985	55541985	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgccaaggaaagaatagCaaatcatcatacagaggaga	18	6	10	7	0	2	3	2	0	0	3	2	5	2	4	1	2	3	1	1	2	6	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:55541985C>A	ENST00000220676.1	+	4	5691	c.5543C>A	c.(5542-5544)gCa>gAa	p.A1848E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1848					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAAGAATAGCAAATCATCAT	0.413													11	78					2.80697e-09	3.13086e-09	1	0	A	55541985	C	A	55541985	3	1	103	1	0	0	0	0	1	0	0	0	13617	710	25	4	5553	4	RP1	8	55541985	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08		55541985	90822037	92	19733											
CYP7A1	1581	broad.mit.edu	37	chr8	59410989	59410989	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagcacagcccaggtaTggaattaatccattctctag	12	10	9	10	0	1	1	0	0	1	1	3	2	2	2	2	2	3	3	2	2	4	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:59410989T>C	ENST00000301645.3	-	2	257	c.120A>G	c.(118-120)ccA>ccG	p.P40P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	40					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AGCCCAGGTATGGAATTAATC	0.418									Neonatal Giant Cell Hepatitis				72	210					0	0	0	0	C	59410989	T	C	59410989	2	2	103	1	0	0	0	0	0	0	0	1	4228	1451	51	5		5	CYP7A1	8	59410989	Silent	SNP	T	TCGA-CN-6024-01A-11D-1683-08	3869004	59410989	86953033	93	19734											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744483	70744483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtacccagagaccattaaCgcctggatgaaggtcagaaa	15	6	11	9	1	1	3	1	1	0	2	1	5	1	4	3	3	2	1	3	3	4	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:70744483C>T	ENST00000260126.3	-	2	1132	c.426G>A	c.(424-426)gcG>gcA	p.A142A	SLCO5A1_ENST00000530307.1_Silent_p.A142A|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.A142A	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	142						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGACCATTAACGCCTGGATGA	0.557											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	52					0	0	0	0	T	70744483	C	T	70744483	2	4	103	1	0	0	0	0	0	0	0	1	14819	523	19	1		1	SLCO5A1	8	70744483	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	11333494	70744483	75619539	94	19735											
ATP6V0D2	245972	broad.mit.edu	37	chr8	87163762	87163762	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggaggacgtgttttacgAgcgtgaggtatgatataagt	11	13	14	3	3	0	2	0	2	0	0	0	5	0	4	0	3	2	2	0	3	4	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:87163762A>G	ENST00000285393.3	+	7	1026	c.884A>G	c.(883-885)gAg>gGg	p.E295G	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	295			E -> K (in dbSNP:rs4263741).		ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GTGTTTTACGAGCGTGAGGTA	0.328													15	51					0	0	0	0	G	87163762	A	G	87163762	3	3	103	1	0	0	0	0	1	0	0	0	1178	304	11	5	910	5	ATP6V0D2	8	87163762	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	16419279	87163762	59200260	95	19736											
VPS13B	157680	broad.mit.edu	37	chr8	100789144	100789144	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttccagtttgctcacctGgaattccatctttgtcatca	7	17	5	12	0	5	0	3	0	2	0	7	1	7	1	3	1	1	2	3	1	1	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:100789144G>A	ENST00000358544.2	+	41	7575	c.7464G>A	c.(7462-7464)ctG>ctA	p.L2488L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L2463L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2488					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGCTCACCTGGAATTCCATC	0.438													84	226					0	0	0	0	A	100789144	G	A	100789144	2	1	103	1	0	0	0	0	0	0	0	1	17286	1335	47	4		4	VPS13B	8	100789144	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	13625382	100789144	45574878	96	19737											
KCNV1	27012	broad.mit.edu	37	chr8	110984585	110984585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcctgcgtggtctggCtcccacttaggctctctacc	4	11	9	17	1	2	0	0	0	2	0	5	0	4	0	4	3	3	3	4	3	2	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:110984585C>A	ENST00000524391.1	-	3	1925	c.893G>T	c.(892-894)aGc>aTc	p.S298I	KCNV1_ENST00000297404.1_Missense_Mutation_p.S298I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	298						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CGTGGTCTGGCTCCCACTTAG	0.562													14	48					2.32078e-09	2.6137e-09	1	0	A	110984585	C	A	110984585	3	1	103	1	0	0	0	0	1	0	0	0	8147	797	28	4	617	4	KCNV1	8	110984585	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	10195441	110984585	35379437	97	19738											
GSDMC	56169	broad.mit.edu	37	chr8	130765053	130765053	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacagtagcctaccatttcGgaaatttcgtactcttggga	10	12	9	10	2	1	0	0	0	1	0	3	2	1	2	2	2	3	3	2	2	4	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:130765053G>A	ENST00000276708.4	-	7	1616	c.735C>T	c.(733-735)tcC>tcT	p.S245S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	245						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						ctaccatttcggaaatttcgt	0.478													13	86					0	0	0	0	A	130765053	G	A	130765053	2	1	103	1	0	0	0	0	0	0	0	1	6868	1103	39	1		1	GSDMC	8	130765053	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	19780468	130765053	15598969	98	19739											
TG	7038	broad.mit.edu	37	chr8	133881999	133881999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgccagaacgacggcCgctcctgctggtgtgtgggt	5	9	15	12	3	0	1	0	0	0	1	2	2	2	1	4	3	3	2	4	3	1	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:133881999C>A	ENST00000220616.4	+	3	242	c.202C>A	c.(202-204)Cgc>Agc	p.R68S	TG_ENST00000377869.1_Missense_Mutation_p.R68S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	68	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R68G(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAACGACGGCCGCTCCTGCTG	0.652													61	40					1.41401e-22	1.72658e-22	1	0	A	133881999	C	A	133881999	3	1	103	1	0	0	0	0	1	0	0	0	15907	652	23	3	212	3	TG	8	133881999	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	3116946	133881999	12482023	99	19740											
ZFAT	57623	broad.mit.edu	37	chr8	135524795	135524795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtcttcttcggcctctGtgatgtggagatactgggtg	6	13	14	8	2	3	2	0	1	3	1	4	4	3	2	1	3	2	0	1	3	2	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:135524795G>A	ENST00000520727.1	-	15	3547	c.3248C>T	c.(3247-3249)aCa>aTa	p.T1083I	ZFAT_ENST00000523399.1_Missense_Mutation_p.T1033I|ZFAT_ENST00000377838.3_Missense_Mutation_p.T1095I|ZFAT_ENST00000429442.2_Missense_Mutation_p.T1083I|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520214.1_Missense_Mutation_p.T1083I	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1095					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTCGGCCTCTGTGATGTGGAG	0.522													34	229					0	0	0	0	A	135524795	G	A	135524795	3	1	103	1	0	0	0	0	1	0	0	0	17727	1377	48	4	459	4	ZFAT	8	135524795	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	1642796	135524795	10839227	100	19741											
TRPM3	80036	broad.mit.edu	37	chr9	73399062	73399062	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaaaggccaggatgtcCgatgcccgtccactcccatc	8	7	9	17	2	0	0	0	0	0	0	4	2	3	1	6	2	2	0	6	2	1	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:73399062C>T	ENST00000377110.2	-	7	1350	c.1107G>A	c.(1105-1107)tcG>tcA	p.S369S	TRPM3_ENST00000360823.2_Silent_p.S241S|TRPM3_ENST00000377101.1_Silent_p.S216S|TRPM3_ENST00000361823.5_Silent_p.S216S|TRPM3_ENST00000396292.4_Silent_p.S241S|TRPM3_ENST00000423814.3_Silent_p.S396S|TRPM3_ENST00000377105.1_Silent_p.S216S|TRPM3_ENST00000408909.2_Silent_p.S216S|TRPM3_ENST00000357533.2_Silent_p.S371S|TRPM3_ENST00000396280.5_Silent_p.S216S|TRPM3_ENST00000377111.2_Silent_p.S369S|TRPM3_ENST00000396283.1_Silent_p.S241S|TRPM3_ENST00000358082.3_Silent_p.S241S|TRPM3_ENST00000396285.1_Silent_p.S216S|TRPM3_ENST00000377106.1_Silent_p.S241S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	394						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCAGGATGTCCGATGCCCGTC	0.527													33	19					0	0	0	0	T	73399062	C	T	73399062	2	4	103	1	0	0	0	0	0	0	0	1	16682	639	23	1		1	TRPM3	9	73399062	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08		73399062	67814369	101	19742											
PRUNE2	158471	broad.mit.edu	37	chr9	79323433	79323433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacatttgctgaatggctggGgatttcaggaggcaattccc	10	11	12	8	0	1	1	1	1	0	0	2	3	2	3	1	5	2	3	1	5	3	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:79323433G>T	ENST00000428286.1	-	8	3880	c.2680C>A	c.(2680-2682)Ccc>Acc	p.P894T	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P1253T			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1253					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAATGGCTGGGGATTTCAGGA	0.453													22	11					2.21704e-12	2.55897e-12	1	0	T	79323433	G	T	79323433	3	4	103	1	0	0	0	0	1	0	0	0	12720	1232	43	4	5557	4	PRUNE2	9	79323433	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	5924371	79323433	61889998	102	19743											
COL15A1	1306	broad.mit.edu	37	chr9	101816858	101816858	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtatgtgtttggtggcagGtgttaaaggagagaaaggat	12	12	16	1	0	0	1	0	0	0	1	0	4	0	3	0	5	0	4	0	5	4	3	rs140851301	by1000genomes	TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:101816858G>T	ENST00000375001.3	+	32	3374	c.2950_splice	c.e32-1	p.G984_splice		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	984	Triple-helical region 6 (COL6).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTGGTGGCAGGTGTTAAAGGA	0.433													21	8					3.62473e-10	4.12224e-10	1	0	T	101816858	G	T	101816858	5	4	103	1	0	0	0	0	0	0	1	0	3702	1275	44	4	3077	4	COL15A1	9	101816858	Splice_Site	SNP	G	TCGA-CN-6024-01A-11D-1683-08	22493425	101816858	39396573	103	19744											
OR13F1	138805	broad.mit.edu	37	chr9	107267404	107267404	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaacccccatgttgaatccTatcatctatagtctacggaa	13	11	5	12	1	3	1	1	1	2	0	4	2	4	2	3	1	2	1	3	1	7	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:107267404T>C	ENST00000334726.2	+	1	950	c.861T>C	c.(859-861)ccT>ccC	p.P287P		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTTGAATCCTATCATCTATA	0.418													41	6					0	0	0	0	C	107267404	T	C	107267404	2	2	103	1	0	0	0	0	0	0	0	1	11012	1509	53	5		5	OR13F1	9	107267404	Silent	SNP	T	TCGA-CN-6024-01A-11D-1683-08	5450546	107267404	33946027	104	19745											
C9orf43	257169	broad.mit.edu	37	chr9	116191548	116191548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgccaggcaaaagaagatctCctttaacttttcagaaatta	15	12	6	8	0	2	3	1	0	1	3	3	3	2	3	2	1	2	1	2	1	6	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:116191548C>T	ENST00000288462.4	+	14	1714	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	C9orf43_ENST00000374165.1_Missense_Mutation_p.S423F	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	423										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AAGAAGATCTCCTTTAACTTT	0.468													19	67					0	0	0	0	T	116191548	C	T	116191548	3	4	103	1	0	0	0	0	1	0	0	0	2508	855	30	2	1318	2	C9orf43	9	116191548	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	8924144	116191548	25021883	105	19746											
ZER1	10444	broad.mit.edu	37	chr9	131515598	131515598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggcagccagggagttaagCggccgcagcagggactccac	11	3	15	12	2	0	0	0	0	0	0	1	2	1	2	3	4	3	4	3	4	2	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:131515598C>T	ENST00000291900.2	-	4	997	c.591G>A	c.(589-591)ccG>ccA	p.P197P	ZER1_ENST00000494461.1_5'UTR	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	197					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GGGAGTTAAGCGGCCGCAGCA	0.602													8	5					0	0	0	0	T	131515598	C	T	131515598	2	4	103	1	0	0	0	0	0	0	0	1	17720	755	27	1		1	ZER1	9	131515598	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	15324050	131515598	9697833	106	19747											
DCLRE1C	64421	broad.mit.edu	37	chr10	14961768	14961768	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactgttctagctctcttCagttttcccagtggtttata	7	18	7	9	0	3	1	1	1	2	0	5	1	4	1	1	1	2	4	1	1	4	8			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:14961768C>A	ENST00000453695.2	-	13	1209	c.765G>T	c.(763-765)ctG>ctT	p.L255L	DCLRE1C_ENST00000378246.2_Silent_p.L260L|DCLRE1C_ENST00000378249.1_Silent_p.L260L|DCLRE1C_ENST00000378255.1_Silent_p.L255L|DCLRE1C_ENST00000378242.1_Silent_p.L28L|DCLRE1C_ENST00000378254.1_Silent_p.L255L|DCLRE1C_ENST00000378278.2_Silent_p.L375L|DCLRE1C_ENST00000378289.4_Silent_p.L375L|DCLRE1C_ENST00000357717.2_Silent_p.L260L|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000396817.2_Silent_p.L255L|DCLRE1C_ENST00000378258.1_Silent_p.L255L	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	375					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TAGCTCTCTTCAGTTTTCCCA	0.458								Non-homologous end-joining					38	81					3.61848e-18	4.34967e-18	1	0	A	14961768	C	A	14961768	2	1	103	1	0	0	0	0	0	0	0	1	4328	813	29	2		2	DCLRE1C	10	14961768	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08		14961768	120572979	107	19748											
GRID1	2894	broad.mit.edu	37	chr10	87966319	87966319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgtgggatgtgcatggCatccgtgagggactgcaggg	7	8	20	6	1	0	1	0	1	0	0	1	4	1	3	1	5	2	3	1	5	0	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:87966319C>T	ENST00000327946.7	-	3	407	c.322G>A	c.(322-324)Gcc>Acc	p.A108T		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	108						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	ATGTGCATGGCATCCGTGAGG	0.607										Multiple Myeloma(13;0.14)			14	30					0	0	0	0	T	87966319	C	T	87966319	3	4	103	1	0	0	0	0	1	0	0	0	6821	710	25	4	2763	4	GRID1	10	87966319	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	73004551	87966319	47568428	108	19749											
C10orf12	26148	broad.mit.edu	37	chr10	98743204	98743204	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgtgaatgaggtagacaAcgaaaacacccagcagaaag	17	4	12	8	1	0	4	0	2	0	2	0	5	0	4	1	2	3	3	1	2	6	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:98743204A>G	ENST00000286067.2	+	1	2164	c.2057A>G	c.(2056-2058)aAc>aGc	p.N686S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	686										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAGGTAGACAACGAAAACACC	0.502													19	20					0	0	0	0	G	98743204	A	G	98743204	3	3	103	1	0	0	0	0	1	0	0	0	1599	43	2	5	2059	5	C10orf12	10	98743204	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	10776885	98743204	36791543	109	19750											
TACC2	10579	broad.mit.edu	37	chr10	123954555	123954555	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttctccctctctcatcagGagttccgattctgaagaggc	7	12	9	13	1	5	2	2	1	3	1	8	4	6	3	2	2	0	2	2	2	1	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:123954555G>A	ENST00000369005.1	+	8	6175	c.5834_splice	c.e8-1	p.R1945_splice	TACC2_ENST00000260733.3_Splice_Site_p.M23_splice|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000513429.1_Splice_Site_p.R91_splice|TACC2_ENST00000369004.3_Splice_Site_p.M23_splice|TACC2_ENST00000334433.3_Splice_Site_p.R1945_splice|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515603.1_Splice_Site_p.R1900_splice|TACC2_ENST00000360561.3_Splice_Site_p.M23_splice|TACC2_ENST00000368999.1_Splice_Site_p.M23_splice|TACC2_ENST00000515273.1_Splice_Site_p.R1949_splice|TACC2_ENST00000358010.1_Splice_Site_p.R91_splice|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000453444.2_Splice_Site_p.R1949_splice	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1945						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCTCATCAGGAGTTCCGATT	0.617													38	96					0	0	0	0	A	123954555	G	A	123954555	5	1	103	1	0	0	0	0	0	0	1	0	15593	1188	41	2	5933	2	TACC2	10	123954555	Splice_Site	SNP	G	TCGA-CN-6024-01A-11D-1683-08	25211351	123954555	11580192	110	19751											
OAT	4942	broad.mit.edu	37	chr10	126100543	126100543	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggattaatttgaaacgtaccTtttcctctctccagggctac	9	14	7	11	1	1	1	0	1	1	0	4	2	3	2	3	2	3	2	3	2	4	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:126100543T>C	ENST00000368845.5	-	2	290	c.199_splice	c.e2+1	p.K66_splice	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	66					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	GAAACGTACCTTTTCCTCTCT	0.363													3	92					0	0	0	0	C	126100543	T	C	126100543	5	2	103	1	0	0	0	0	0	0	1	0	10874	1623	56	5	1157	5	OAT	10	126100543	Splice_Site	SNP	T	TCGA-CN-6024-01A-11D-1683-08	2145988	126100543	9434204	111	19752											
UBQLN3	50613	broad.mit.edu	37	chr11	5530480	5530480	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtagggacagaggcagcTgggcactcattgcccatggc	8	7	16	10	0	1	1	1	0	0	1	1	2	1	2	1	5	2	4	1	5	1	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:5530480T>G	ENST00000311659.4	-	2	456	c.309A>C	c.(307-309)ccA>ccC	p.P103P	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	103										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGGCAGCTGGGCACTCAT	0.597													11	29					0	0	0	0	G	5530480	T	G	5530480	2	3	103	1	0	0	0	0	0	0	0	1	16994	1567	55	5		5	UBQLN3	11	5530480	Silent	SNP	T	TCGA-CN-6024-01A-11D-1683-08		5530480	129476036	112	19753											
SBF2	81846	broad.mit.edu	37	chr11	9878164	9878164	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctttcctcatgttgcactAgctcttgctgagttgacttg	5	17	9	10	0	2	2	1	2	1	0	3	2	3	2	1	0	4	6	1	0	1	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:9878164A>T	ENST00000256190.8	-	19	2341	c.2204T>A	c.(2203-2205)cTa>cAa	p.L735Q	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	735					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ATGTTGCACTAGCTCTTGCTG	0.483													59	161					0	0	0	0	T	9878164	A	T	9878164	3	4	103	1	0	0	0	0	1	0	0	0	13945	420	15	5	3433	5	SBF2	11	9878164	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	4347684	9878164	125128352	113	19754											
ABCC8	6833	broad.mit.edu	37	chr11	17496473	17496473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatctcacacaccaggaCgaagagcagcatgaaggtca	15	5	10	11	1	2	2	2	1	1	1	3	4	2	3	1	2	3	3	1	2	3	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:17496473C>T	ENST00000302539.4	-	2	375	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	ABCC8_ENST00000389817.3_Missense_Mutation_p.V84I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	84					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACACCAGGACGAAGAGCAGC	0.547													11	20					0	0	0	0	T	17496473	C	T	17496473	3	4	103	1	0	0	0	0	1	0	0	0	58	536	19	1	4647	1	ABCC8	11	17496473	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	7618309	17496473	117510043	114	19755											
ELF5	2001	broad.mit.edu	37	chr11	34502384	34502384	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttgtccccacatcttTgccagggcttccgatttaac	6	15	6	14	1	1	0	0	0	1	0	4	1	4	0	5	1	2	1	5	1	1	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:34502384T>A	ENST00000312319.2	-	6	865	c.636A>T	c.(634-636)gcA>gcT	p.A212A	ELF5_ENST00000257832.2_Silent_p.A202A|ELF5_ENST00000429939.2_Silent_p.A107A	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	212					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CCCACATCTTTGCCAGGGCTT	0.418													52	64					0	0	0	0	A	34502384	T	A	34502384	2	1	103	1	0	0	0	0	0	0	0	1	5095	1799	63	5		5	ELF5	11	34502384	Silent	SNP	T	TCGA-CN-6024-01A-11D-1683-08	17005911	34502384	100504132	115	19756											
LRRC4C	57689	broad.mit.edu	37	chr11	40137317	40137317	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caattcccctaagtctagtcGgcgcaaagaaggaattctgt	12	10	9	10	2	2	1	0	0	2	1	4	2	3	2	2	2	0	1	2	2	6	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:40137317G>T	ENST00000278198.2	-	2	2489	c.526C>A	c.(526-528)Cga>Aga	p.R176R	LRRC4C_ENST00000530763.1_Silent_p.R176R|LRRC4C_ENST00000527150.1_Silent_p.R176R|LRRC4C_ENST00000528697.1_Silent_p.R176R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	176					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGTCTAGTCGGCGCAAAGAA	0.423													32	38					6.00712e-18	7.14694e-18	1	0	T	40137317	G	T	40137317	2	4	103	1	0	0	0	0	0	0	0	1	9072	1124	39	3		3	LRRC4C	11	40137317	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	5634933	40137317	94869199	116	19757											
FOLH1	2346	broad.mit.edu	37	chr11	49207301	49207301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgctggacaccacctccaGgaagattccaaccatctgga	12	6	8	15	1	1	1	0	0	1	1	3	4	3	4	5	3	1	1	5	3	2	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:49207301G>A	ENST00000340334.7	-	7	1069	c.701C>T	c.(700-702)cCt>cTt	p.P234L	FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000256999.2_Missense_Mutation_p.P249L|FOLH1_ENST00000356696.3_Missense_Mutation_p.P249L|FOLH1_ENST00000533034.1_Missense_Mutation_p.P234L	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	249					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ACCACCTCCAGGAAGATTCCA	0.512													12	35					0	0	0	0	A	49207301	G	A	49207301	3	1	103	1	0	0	0	0	1	0	0	0	6024	1000	35	4	1562	4	FOLH1	11	49207301	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	9069984	49207301	85799215	117	19758											
OR4A16	81327	broad.mit.edu	37	chr11	55111275	55111275	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggactcactgtggttgccaAtggtggaataatttgtatgg	10	13	13	5	0	1	0	1	0	0	0	1	2	1	2	1	5	1	2	1	5	4	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:55111275A>G	ENST00000314721.2	+	1	649	c.599A>G	c.(598-600)aAt>aGt	p.N200S		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTGGTTGCCAATGGTGGAATA	0.423													58	60					0	0	0	0	G	55111275	A	G	55111275	3	3	103	1	0	0	0	0	1	0	0	0	11112	101	4	5	601	5	OR4A16	11	55111275	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	5903974	55111275	79895241	118	19759											
CCDC88B	283234	broad.mit.edu	37	chr11	64116884	64116884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagctggagcaggcggctCtcgagcgccaggaatttctg	7	8	16	10	3	2	1	0	1	2	0	3	4	2	3	1	4	3	3	1	4	1	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:64116884C>T	ENST00000356786.5	+	15	2742	c.2698C>T	c.(2698-2700)Ctc>Ttc	p.L900F	CCDC88B_ENST00000359902.2_Missense_Mutation_p.L52F|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	900					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCAGGCGGCTCTCGAGCGCCA	0.637													4	23					0	0	0	0	T	64116884	C	T	64116884	3	4	103	1	0	0	0	0	1	0	0	0	2891	913	32	2	2756	2	CCDC88B	11	64116884	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	9005609	64116884	70889632	119	19760											
SPTBN2	6712	broad.mit.edu	37	chr11	66466927	66466927	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgtcggcgtggatgttGccttcagataccagctggcg	6	12	13	10	3	2	1	1	0	1	1	3	2	2	2	2	3	3	2	2	3	1	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:66466927G>T	ENST00000533211.1	-	18	4057	c.3726C>A	c.(3724-3726)ggC>ggA	p.G1242G	SPTBN2_ENST00000309996.2_Silent_p.G1242G|SPTBN2_ENST00000529997.1_Silent_p.G1242G			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1242					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGTGGATGTTGCCTTCAGATA	0.557													23	50					3.08376e-08	3.40682e-08	1	0	T	66466927	G	T	66466927	2	4	103	1	0	0	0	0	0	0	0	1	15210	1306	46	4		4	SPTBN2	11	66466927	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	2350043	66466927	68539589	120	19761											
ME3	10873	broad.mit.edu	37	chr11	86198421	86198421	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcatccagcaagtcatcgTatgccttcccgtgcacgcgc	8	9	8	16	4	2	0	2	0	0	0	5	0	4	0	3	0	3	3	3	0	2	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:86198421T>G	ENST00000543262.1	-	7	1093	c.767A>C	c.(766-768)tAc>tCc	p.Y256S	ME3_ENST00000525957.1_5'UTR|ME3_ENST00000359636.2_Missense_Mutation_p.Y256S|ME3_ENST00000323418.6_Missense_Mutation_p.Y194S|ME3_ENST00000393324.3_Missense_Mutation_p.Y256S|RP11-317J19.1_ENST00000524610.1_RNA	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	256					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CAAGTCATCGTATGCCTTCCC	0.527													11	39					0	0	0	0	G	86198421	T	G	86198421	3	3	103	1	0	0	0	0	1	0	0	0	9488	1638	57	5	1083	5	ME3	11	86198421	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08	19731494	86198421	48808095	121	19762											
FAT3	120114	broad.mit.edu	37	chr11	92087366	92087366	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaagctggcagagaaactActcattaaggcaaaagcaaa	20	5	8	8	0	1	1	1	0	0	1	1	2	1	1	0	2	4	4	0	2	8	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:92087366A>G	ENST00000298047.6	+	1	2105	c.2088A>G	c.(2086-2088)ctA>ctG	p.L696L	FAT3_ENST00000525166.1_Silent_p.L546L|FAT3_ENST00000541502.1_Silent_p.L696L|FAT3_ENST00000409404.2_Silent_p.L696L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	696					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGAGAAACTACTCATTAAGG	0.388										TCGA Ovarian(4;0.039)			19	44					0	0	0	0	G	92087366	A	G	92087366	2	3	103	1	0	0	0	0	0	0	0	1	5736	378	14	5		5	FAT3	11	92087366	Silent	SNP	A	TCGA-CN-6024-01A-11D-1683-08	5888945	92087366	42919150	122	19763											
ATM	472	broad.mit.edu	37	chr11	108115564	108115564	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatcttagcagctcttactAtcttcctcaagactttggct	9	16	5	11	0	4	1	1	0	3	1	5	1	5	1	1	1	3	3	1	1	5	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:108115564A>G	ENST00000278616.4	+	7	1097	c.712A>G	c.(712-714)Atc>Gtc	p.I238V	ATM_ENST00000452508.2_Missense_Mutation_p.I238V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	238					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGCTCTTACTATCTTCCTCAA	0.393			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			28	65					0	0	0	0	G	108115564	A	G	108115564	3	3	103	1	0	0	0	0	1	0	0	0	1113	449	16	5	734	5	ATM	11	108115564	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	16028198	108115564	26890952	123	19764											
ATM	472	broad.mit.edu	37	chr11	108143284	108143284	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taacaaaggagaggaaatatAtattctctgtaagaatggcc	17	10	9	5	0	1	2	0	0	1	2	2	4	1	3	1	3	1	1	1	3	8	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:108143284A>G	ENST00000278616.4	+	21	3488	c.3103A>G	c.(3103-3105)Ata>Gta	p.I1035V	ATM_ENST00000452508.2_Missense_Mutation_p.I1035V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1035					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAGGAAATATATATTCTCTGT	0.308			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			10	25					0	0	0	0	G	108143284	A	G	108143284	3	3	103	1	0	0	0	0	1	0	0	0	1113	449	16	5	3181	5	ATM	11	108143284	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	27720	108143284	26863232	124	19765											
C11orf53	341032	broad.mit.edu	37	chr11	111155057	111155057	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgcctcgcccctaccgccGctcctgccaccgcccttccc	3	6	7	25	5	0	0	0	0	0	0	3	0	2	0	10	0	3	1	10	0	1	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:111155057G>A	ENST00000280325.4	+	3	411	c.264G>A	c.(262-264)ccG>ccA	p.P88P		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	88										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CCCTACCGCCGCTCCTGCCAC	0.662													7	19					0	0	0	0	A	111155057	G	A	111155057	2	1	103	1	0	0	0	0	0	0	0	1	1659	1074	38	1		1	C11orf53	11	111155057	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	3011773	111155057	23851459	125	19766											
BSX	390259	broad.mit.edu	37	chr11	122848579	122848579	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttttatgcttcatccgccgGttctggaaccacgttttcac	6	16	7	12	3	3	0	2	0	1	0	4	1	4	1	3	2	2	3	3	2	2	7			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:122848579G>A	ENST00000343035.2	-	3	528	c.480C>T	c.(478-480)aaC>aaT	p.N160N		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	160										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		TCATCCGCCGGTTCTGGAACC	0.527													17	26					0	0	0	0	A	122848579	G	A	122848579	2	1	103	1	0	0	0	0	0	0	0	1	1543	1252	44	4		4	BSX	11	122848579	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	11693522	122848579	12157937	126	19767											
ITPR2	3709	broad.mit.edu	37	chr12	26812177	26812177	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccaaaatatcatagccAatctgggactgcatgacaca	14	9	7	11	0	3	1	1	1	2	0	3	2	3	2	2	1	3	1	2	1	5	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:26812177A>C	ENST00000381340.3	-	16	2171	c.1755T>G	c.(1753-1755)atT>atG	p.I585M		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	585					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TATCATAGCCAATCTGGGACT	0.368													11	139					0	0	0	0	C	26812177	A	C	26812177	3	2	103	1	0	0	0	0	1	0	0	0	7974	126	5	5	6518	5	ITPR2	12	26812177	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08		26812177	107039718	127	19768											
ARNTL2	56938	broad.mit.edu	37	chr12	27533231	27533231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagataaaatgaataacctGattgaagaactgtctgcaat	18	10	8	5	0	1	5	0	3	1	2	1	6	1	5	1	0	3	1	1	0	7	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:27533231G>A	ENST00000544915.1	+	4	495	c.276G>A	c.(274-276)ctG>ctA	p.L92L	ARNTL2_ENST00000546179.1_Silent_p.L89L|ARNTL2_ENST00000261178.5_Silent_p.L78L|ARNTL2_ENST00000266503.5_Silent_p.L126L|ARNTL2_ENST00000311001.5_Silent_p.L112L|ARNTL2_ENST00000542388.1_Silent_p.L41L|ARNTL2_ENST00000395901.2_Silent_p.L89L	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	126					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TGAATAACCTGATTGAAGAAC	0.418													17	132					0	0	0	0	A	27533231	G	A	27533231	2	1	103	1	0	0	0	0	0	0	0	1	972	1277	45	2		2	ARNTL2	12	27533231	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	721054	27533231	106318664	128	19769											
CNTN1	1272	broad.mit.edu	37	chr12	41302265	41302265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgctggtcagtcatcttGtgataatatctattactacc	9	16	8	8	0	4	1	2	1	2	0	4	1	4	1	1	2	3	2	1	2	5	7			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:41302265G>T	ENST00000551295.2	+	2	148	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	CNTN1_ENST00000547849.1_Missense_Mutation_p.V11L|CNTN1_ENST00000360099.3_Missense_Mutation_p.V11L|CNTN1_ENST00000547702.1_Missense_Mutation_p.V11L|CNTN1_ENST00000348761.2_Missense_Mutation_p.V11L|CNTN1_ENST00000347616.1_Missense_Mutation_p.V11L	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	11					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAGTCATCTTGTGATAATATC	0.299													26	21					1.55811e-20	1.89257e-20	1	0	T	41302265	G	T	41302265	3	4	103	1	0	0	0	0	1	0	0	0	3670	1377	48	4	33	4	CNTN1	12	41302265	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	13769034	41302265	92549630	129	19770											
PRPF40B	25766	broad.mit.edu	37	chr12	50027756	50027756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgtgcctcctggccccacCccagtgcccacaggcctcct	4	7	8	22	0	0	0	0	0	0	0	2	0	2	0	10	2	2	0	10	2	0	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:50027756C>T	ENST00000261897.1	+	9	1160	c.609C>T	c.(607-609)acC>acT	p.T203T	PRPF40B_ENST00000380281.1_Silent_p.T209T|PRPF40B_ENST00000548825.2_Silent_p.T231T			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	209					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CTGGCCCCACCCCAGTGCCCA	0.642													51	20					0	0	0	0	T	50027756	C	T	50027756	2	4	103	1	0	0	0	0	0	0	0	1	12652	610	22	4		4	PRPF40B	12	50027756	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	8725491	50027756	83824139	130	19771											
RASSF9	9182	broad.mit.edu	37	chr12	86198764	86198764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagtcactgtatttaatctCtttctggatgccactcaaat	10	16	6	9	0	4	1	2	1	2	0	5	2	4	2	1	1	1	1	1	1	3	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:86198764C>G	ENST00000361228.3	-	2	1392	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	342					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATTTAATCTCTTTCTGGATG	0.373													104	68					0	0	0	0	G	86198764	C	G	86198764	3	3	103	1	0	0	0	0	1	0	0	0	13175	922	32	2	287	2	RASSF9	12	86198764	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	36171008	86198764	47653131	131	19772											
APAF1	317	broad.mit.edu	37	chr12	99060113	99060113	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtagattttcttacagAgaagaattgcagccagcttc	13	12	8	8	0	2	3	1	0	1	3	3	4	2	3	1	0	4	3	1	0	5	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:99060113A>G	ENST00000357310.1	+	9	1917	c.1340A>G	c.(1339-1341)gAg>gGg	p.E447G	APAF1_ENST00000547045.1_Missense_Mutation_p.E447G|APAF1_ENST00000359972.2_Missense_Mutation_p.E436G|APAF1_ENST00000339433.3_Missense_Mutation_p.E447G|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.E447G|APAF1_ENST00000550527.1_Missense_Mutation_p.E436G|APAF1_ENST00000549007.1_Missense_Mutation_p.E447G	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	447					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTTCTTACAGAGAAGAATTGC	0.294													28	30					0	0	0	0	G	99060113	A	G	99060113	3	3	103	1	0	0	0	0	1	0	0	0	756	304	11	5	1370	5	APAF1	12	99060113	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	12861349	99060113	34791782	132	19773											
SLC5A8	160728	broad.mit.edu	37	chr12	101603574	101603574	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaccagcatgcccgcgAacaccacgtagtcccacacc	12	4	8	17	3	0	2	0	1	0	1	1	3	1	2	5	0	3	2	5	0	2	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:101603574A>T	ENST00000536262.2	-	1	611	c.53T>A	c.(52-54)tTc>tAc	p.F18Y		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	18					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATGCCCGCGAACACCACGTA	0.692													16	8					0	0	0	0	T	101603574	A	T	101603574	3	4	103	1	0	0	0	0	1	0	0	0	14759	246	9	5	1839	5	SLC5A8	12	101603574	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	2543461	101603574	32248321	133	19774											
DDX55	57696	broad.mit.edu	37	chr12	124104214	124104214	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaataaagcttggtcaaaGcagaaggccaaaaaagaaaa	24	4	8	5	0	1	2	1	0	0	2	1	2	1	2	1	2	2	2	1	2	11	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:124104214G>A	ENST00000238146.4	+	13	1619	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K	DDX55_ENST00000421670.3_Silent_p.K130K|DDX55_ENST00000538744.1_Silent_p.K492K	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	523	Lys-rich.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		cttggtcaaagcagaaggcca	0.328													7	15					0	0	0	0	A	124104214	G	A	124104214	2	1	103	1	0	0	0	0	0	0	0	1	4405	962	34	4		4	DDX55	12	124104214	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	22500640	124104214	9747681	134	19775											
CDK8	1024	broad.mit.edu	37	chr13	26967636	26967636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaatattcaatgtaatggGatttcctgcaggtacacatt	13	13	8	7	0	1	1	1	0	0	1	2	2	2	2	1	2	2	3	1	2	5	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr13:26967636G>T	ENST00000381527.3	+	7	1282	c.779G>T	c.(778-780)gGa>gTa	p.G260V	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	260	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AATGTAATGGGATTTCCTGCA	0.353													69	52					5.94106e-25	7.29273e-25	1	0	T	26967636	G	T	26967636	3	4	103	1	0	0	0	0	1	0	0	0	3179	1174	41	2	805	2	CDK8	13	26967636	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08		26967636	88202242	135	19776											
RB1	5925	broad.mit.edu	37	chr13	48951101	48951101	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atactgaaaagagtgaaggaTataggatacatctttaaaga	19	10	9	3	0	1	4	0	2	1	2	1	6	1	6	0	2	2	0	0	2	9	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr13:48951101T>C	ENST00000267163.4	+	13	1401	c.1263T>C	c.(1261-1263)gaT>gaC	p.D421D		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	421	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGTGAAGGATATAGGATACA	0.358		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			28	16					0	0	0	0	C	48951101	T	C	48951101	2	2	103	1	0	0	0	0	0	0	0	1	13180	1403	49	5		5	RB1	13	48951101	Silent	SNP	T	TCGA-CN-6024-01A-11D-1683-08	21983465	48951101	66218777	136	19777											
MLNR	2862	broad.mit.edu	37	chr13	49795353	49795353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggcgggagagaggccacCggcagaccgtccgcgtcctg	6	3	18	14	6	0	2	0	0	0	2	2	4	2	3	5	5	0	1	5	5	0	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr13:49795353C>T	ENST00000398307.1	+	1	880	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	MLNR_ENST00000218721.1_Missense_Mutation_p.R294W			O43193	MTLR_HUMAN	motilin receptor	294					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GAGAGGCCACCGGCAGACCGT	0.736													3	2					0	0	0	0	T	49795353	C	T	49795353	3	4	103	1	0	0	0	0	1	0	0	0	9701	643	23	1	882	1	MLNR	13	49795353	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	844252	49795353	65374525	137	19778											
RBM26	64062	broad.mit.edu	37	chr13	79945213	79945213	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcgtcttctattgtaccgGtctctgtatgaatctcttcg	5	17	7	12	3	4	1	0	1	4	0	8	1	4	1	2	1	1	2	2	1	4	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr13:79945213G>A	ENST00000438737.2	-	5	941	c.501C>T	c.(499-501)gaC>gaT	p.D167D	RBM26_ENST00000438724.1_Silent_p.D167D|RBM26_ENST00000267229.7_Silent_p.D167D			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	167	Arg-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TATTGTACCGGTCTCTGTATG	0.453													49	32					0	0	0	0	A	79945213	G	A	79945213	2	1	103	1	0	0	0	0	0	0	0	1	13208	1252	44	4		4	RBM26	13	79945213	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	30149860	79945213	35224665	138	19779											
IRF9	10379	broad.mit.edu	37	chr14	24624491	24624491	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgtggccgccccgacctCaccgatgacacacagttgct	7	7	10	17	3	1	1	1	1	0	0	1	3	1	1	6	1	1	2	6	1	0	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:24624491C>G	ENST00000558468.1	+	4	681	c.681C>G	c.(679-681)ctC>ctG	p.L227L	RNF31_ENST00000382687.3_Silent_p.L601L|RNF31_ENST00000324103.6_Silent_p.L752L|RNF31_ENST00000559275.1_Silent_p.L601L																							GCCCCGACCTCACCGATGACA	0.577													40	33					0	0	0	0	G	24624491	C	G	24624491	2	3	103	1	0	0	0	0	0	0	0	1	7890	813	29	2		2	IRF9	14	24624491	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08		24624491	82725049	139	19780											
HECTD1	25831	broad.mit.edu	37	chr14	31581699	31581699	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaaaggacatttgctggtTaattgttcacaccagtctgg	12	12	10	7	0	2	1	1	0	1	1	2	2	2	2	1	3	1	3	1	3	3	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:31581699T>C	ENST00000399332.1	-	35	6689	c.6201A>G	c.(6199-6201)ttA>ttG	p.L2067L	HECTD1_ENST00000553700.1_Silent_p.L2067L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2067	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATTTGCTGGTTAATTGTTCAC	0.393													16	33					0	0	0	0	C	31581699	T	C	31581699	2	2	103	1	0	0	0	0	0	0	0	1	7089	1751	61	5		5	HECTD1	14	31581699	Silent	SNP	T	TCGA-CN-6024-01A-11D-1683-08	6957208	31581699	75767841	140	19781											
TBPL2	387332	broad.mit.edu	37	chr14	55903569	55903569	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtctttattttcctgggtAacttcatctggtaggaagct	7	17	10	7	0	3	0	1	0	2	0	4	1	4	1	1	4	2	3	1	4	4	7			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:55903569A>G	ENST00000247219.5	-	2	388	c.318T>C	c.(316-318)gtT>gtC	p.V106V		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	106					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TTTCCTGGGTAACTTCATCTG	0.423													30	33					0	0	0	0	G	55903569	A	G	55903569	2	3	103	1	0	0	0	0	0	0	0	1	15740	349	13	5		5	TBPL2	14	55903569	Silent	SNP	A	TCGA-CN-6024-01A-11D-1683-08	24321870	55903569	51445971	141	19782											
SYNE2	23224	broad.mit.edu	37	chr14	64679605	64679605	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggagcagctgattcagaAgagcgagcccctggatgctg	9	7	16	9	1	1	3	1	1	0	2	1	6	1	5	2	3	5	3	2	3	1	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:64679605A>G	ENST00000357395.3	+	106	19237	c.8093A>G	c.(8092-8094)aAg>aGg	p.K2698R	SYNE2_ENST00000554805.1_Missense_Mutation_p.K96R|SYNE2_ENST00000555002.1_Missense_Mutation_p.K2947R|SYNE2_ENST00000554584.1_Missense_Mutation_p.K6272R|SYNE2_ENST00000394768.2_Missense_Mutation_p.K2698R|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.K6313R|SYNE2_ENST00000344113.4_Missense_Mutation_p.K6313R|SYNE2_ENST00000555022.1_Missense_Mutation_p.K191R			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6313					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGATTCAGAAGAGCGAGCCC	0.522													48	39					0	0	0	0	G	64679605	A	G	64679605	3	3	103	1	0	0	0	0	1	0	0	0	15537	72	3	5	19352	5	SYNE2	14	64679605	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	8776036	64679605	42669935	142	19783											
ACOT2	10965	broad.mit.edu	37	chr14	74036297	74036297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgctaccgcgccgacaCtcttggcgagctggacctgg	5	6	14	16	7	1	0	0	0	1	0	1	3	1	1	3	3	2	2	3	3	1	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:74036297C>T	ENST00000238651.5	+	1	535	c.353C>T	c.(352-354)aCt>aTt	p.T118I	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	118					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CGCGCCGACACTCTTGGCGAG	0.741													17	16					0	0	0	0	T	74036297	C	T	74036297	3	4	103	1	0	0	0	0	1	0	0	0	152	565	20	4	355	4	ACOT2	14	74036297	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	9356692	74036297	33313243	143	19784											
OTUB2	78990	broad.mit.edu	37	chr14	94510931	94510931	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagggccgggcgggcgcaGttttacagtgtggtggaact	6	9	18	8	3	0	1	0	1	0	0	0	2	0	2	1	5	2	2	1	5	2	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:94510931G>A	ENST00000203664.5	+	5	512		c.e5-1			NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2						cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		GGCGGGCGCAGTTTTACAGTG	0.622													12	26					0	0	0	0	A	94510931	G	A	94510931	5	1	103	1	0	0	0	0	0	0	1	0	11383	1043	36	4	321	4	OTUB2	14	94510931	Splice_Site	SNP	G	TCGA-CN-6024-01A-11D-1683-08	20474634	94510931	12838609	144	19785											
RYR3	6263	broad.mit.edu	37	chr15	34016286	34016286	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgggggacgatgaagAggaagaagaaatcgtgcata	16	4	15	6	3	0	4	0	1	0	3	1	7	0	6	0	3	2	2	0	3	5	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr15:34016286A>T	ENST00000389232.4	+	45	6891	c.6821A>T	c.(6820-6822)gAg>gTg	p.E2274V	RYR3_ENST00000415757.3_Missense_Mutation_p.E2274V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2274	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACGATGAAGAGGAAGAAGAA	0.502													16	10					0	0	0	0	T	34016286	A	T	34016286	3	4	103	1	0	0	0	0	1	0	0	0	13855	304	11	5	6999	5	RYR3	15	34016286	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08		34016286	68515106	145	19786											
ONECUT1	3175	broad.mit.edu	37	chr15	53081808	53081808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcatacctgggggagtctCgcaggccatggtcatggtgg	6	9	16	10	1	3	0	2	0	1	0	4	1	3	1	2	6	1	2	2	6	1	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr15:53081808C>T	ENST00000305901.5	-	1	401	c.274G>A	c.(274-276)Gag>Aag	p.E92K	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	92					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GGGGGAGTCTCGCAGGCCATG	0.677													27	13					0	0	0	0	T	53081808	C	T	53081808	3	4	103	1	0	0	0	0	1	0	0	0	10939	893	31	1	1131	1	ONECUT1	15	53081808	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	19065522	53081808	49449584	146	19787											
PRTG	283659	broad.mit.edu	37	chr15	55965703	55965703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaaaaggtactcatgcGtggtccccgggagctccaga	9	8	11	13	2	1	1	1	0	0	1	4	2	4	2	4	3	3	2	4	3	3	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr15:55965703G>A	ENST00000389286.4	-	10	1765	c.1718C>T	c.(1717-1719)aCg>aTg	p.T573M		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	573	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GTACTCATGCGTGGTCCCCGG	0.537													39	20					0	0	0	0	A	55965703	G	A	55965703	3	1	103	1	0	0	0	0	1	0	0	0	12717	1145	40	1	1778	1	PRTG	15	55965703	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	2883895	55965703	46565689	147	19788											
IL16	3603	broad.mit.edu	37	chr15	81585276	81585276	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaagcccaagcctccAcccagaaaatactttaaaag	15	7	4	15	0	0	1	0	0	0	1	3	1	3	1	6	0	3	0	6	0	7	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr15:81585276A>T	ENST00000394660.2	+	12	2160	c.1800A>T	c.(1798-1800)ccA>ccT	p.P600P	IL16_ENST00000302987.4_Silent_p.P600P	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	600					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCAAGCCTCCACCCAGAAAAT	0.547													9	11					0	0	0	0	T	81585276	A	T	81585276	2	4	103	1	0	0	0	0	0	0	0	1	7686	146	6	5		5	IL16	15	81585276	Silent	SNP	A	TCGA-CN-6024-01A-11D-1683-08	25619573	81585276	20946116	148	19789											
RPUSD1	113000	broad.mit.edu	37	chr16	836037	836037	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggggcttggttgggggTggaggaggccggccgggccc	3	6	23	9	2	1	0	1	0	0	0	1	2	1	2	3	10	0	2	3	10	0	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr16:836037T>A	ENST00000561734.1	-	5	1095	c.852A>T	c.(850-852)ccA>ccT	p.P284P	RPUSD1_ENST00000567114.1_Silent_p.P155P|RPUSD1_ENST00000007264.2_Silent_p.P284P|RPUSD1_ENST00000565809.1_3'UTR			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	284	Pro-rich.				pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TGGTTGGGGGTGGAGGAGGCC	0.731													3	6					0	0	0	0	A	836037	T	A	836037	2	1	103	1	0	0	0	0	0	0	0	1	13751	1683	59	5		5	RPUSD1	16	836037	Silent	SNP	T	TCGA-CN-6024-01A-11D-1683-08		836037	89518716	149	19790											
SLC12A3	6559	broad.mit.edu	37	chr16	56914084	56914084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccactgatcggcttcttcGgcaaaggctatggcaagaac	11	8	10	12	2	1	2	0	1	1	1	3	2	1	2	1	4	1	4	1	4	4	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr16:56914084G>A	ENST00000438926.2	+	12	1515	c.1486G>A	c.(1486-1488)Ggc>Agc	p.G496S	SLC12A3_ENST00000566786.1_Missense_Mutation_p.G495S|SLC12A3_ENST00000563236.1_Missense_Mutation_p.G496S|SLC12A3_ENST00000262502.5_Missense_Mutation_p.G495S	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	496			G -> C (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CGGCTTCTTCGGCAAAGGCTA	0.612													5	8					0	0	0	0	A	56914084	G	A	56914084	3	1	103	1	0	0	0	0	1	0	0	0	14472	1116	39	1	1532	1	SLC12A3	16	56914084	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	56078047	56914084	33440669	150	19791											
CDH1	999	broad.mit.edu	37	chr16	68847250	68847255	+	In_Frame_Del	DEL	TCGTAA	TCGTAA	-																															gcctgagaacgaggctaacgTcgtaatcaccacactgaaag																								rs141864044		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr16:68847250_68847255delTCGTAA	ENST00000261769.5	+	9	1363_1368	c.1172_1177delTCGTAA	c.(1171-1179)gtc>g	p.VVI391del	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	391	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAGGCTAACGTCGTAATCACCACACT	0.495			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				16	64	---	---	---	---					-	68847255	TCGTAA	-	68847250	7	5	103	1	0	1	0	1	0	0	0	0	3124	1667	58	0	1206	0	CDH1	16	68847250	In_Frame_Del	DEL	TCGTAA	TCGA-CN-6024-01A-11D-1683-08	11933166	68847250	21507503	151	19792											
HP	3240	broad.mit.edu	37	chr16	72094648	72094648	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgggcagtgcctttgcCgttcacgacctggaggagga	7	8	16	10	3	1	0	1	0	0	0	1	5	1	3	3	4	3	2	3	4	0	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr16:72094648C>T	ENST00000355906.5	+	7	1138	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A	HPR_ENST00000356967.5_Intron|HP_ENST00000565574.1_Silent_p.A301A|HP_ENST00000562526.1_3'UTR|HP_ENST00000570083.1_Silent_p.A301A|HP_ENST00000398131.2_Silent_p.A301A	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	360	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GTGCCTTTGCCGTTCACGACC	0.522													20	69					0	0	0	0	T	72094648	C	T	72094648	2	4	103	1	0	0	0	0	0	0	0	1	7377	639	23	1		1	HP	16	72094648	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	3247398	72094648	18260105	152	19793											
TP53	7157	broad.mit.edu	37	chr17	7577144	7577144	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaagctgttccgtcccAgtagattaccactactcagg	10	10	7	14	1	2	1	2	0	0	1	4	1	4	1	4	1	3	3	4	1	4	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:7577144A>C	ENST00000420246.2	-	8	926	c.794T>G	c.(793-795)cTg>cGg	p.L265R	TP53_ENST00000269305.4_Missense_Mutation_p.L265R|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.L265R|TP53_ENST00000359597.4_Missense_Mutation_p.L265R|TP53_ENST00000455263.2_Missense_Mutation_p.L265R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTCCGTCCCAGTAGATTACC	0.522		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	8					0	0	0	0	C	7577144	A	C	7577144	3	2	103	1	0	0	0	0	1	0	0	0	16476	188	7	5	492	5	TP53	17	7577144	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08		7577144	73618066	153	19794											
CHD3	1107	broad.mit.edu	37	chr17	7797825	7797826	+	Frame_Shift_Ins	INS	-	-	A																															ggtgtgccagcagggtggggINSaaattattctgtgtgacacc																										TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:7797825_7797826insA	ENST00000380358.4	+	8	1346_1347	c.1345_1346insA	c.(1345-1347)aatfs	p.N449fs	CHD3_ENST00000330494.7_Frame_Shift_Ins_p.N390fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.N390fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	390					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	p.E390*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCAGGGTGGGGAAATTATTCTG	0.589													30	60	---	---	---	---					A	7797826	-	A	7797825	7	5	103	1	0	1	1	0	0	0	0	0	3355	1175	41	0	1479	0	CHD3	17	7797825	Frame_Shift_Ins	INS	-	TCGA-CN-6024-01A-11D-1683-08	220681	7797825	73397385	154	19795											
PIK3R5	23533	broad.mit.edu	37	chr17	8812417	8812417	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttctgcaggatctgctCaaggaggataaggaagtggc	10	9	15	7	0	4	0	1	0	3	0	4	4	4	4	0	6	2	2	0	6	3	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:8812417C>A	ENST00000447110.1	-	3	302	c.178G>T	c.(178-180)Gag>Tag	p.E60*	PIK3R5_ENST00000581552.1_Nonsense_Mutation_p.E60*|PIK3R5_ENST00000584803.1_Nonsense_Mutation_p.E60*	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	60	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGATCTGCTCAAGGAGGATA	0.592													4	5					5.9392e-07	6.43876e-07	1	0	A	8812417	C	A	8812417	4	1	103	1	0	0	0	0	0	1	0	0	11994	835	29	2	2532	2	PIK3R5	17	8812417	Nonsense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	1014592	8812417	72382793	155	19796											
MYH8	4626	broad.mit.edu	37	chr17	10304048	10304048	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttctccgctttggctcGggacgccctctctgcctcga	2	12	10	17	4	2	0	0	0	2	0	6	2	2	1	3	2	2	3	3	2	0	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:10304048G>T	ENST00000403437.2	-	27	3488	c.3394C>A	c.(3394-3396)Cga>Aga	p.R1132R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1132					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTTTGGCTCGGGACGCCCTC	0.557									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				6	51					0.00198382	0.00209203	1	0	T	10304048	G	T	10304048	2	4	103	1	0	0	0	0	0	0	0	1	10111	1124	39	3		3	MYH8	17	10304048	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	1491631	10304048	70891162	156	19797											
MYH4	4622	broad.mit.edu	37	chr17	10360801	10360801	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcattgcagacttctggtaCagccccaccacagtctcatt	9	12	6	14	0	3	1	2	0	2	1	4	1	3	1	3	1	3	2	3	1	1	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:10360801C>A	ENST00000255381.2	-	16	1943	c.1833G>T	c.(1831-1833)ctG>ctT	p.L611L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	611	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACTTCTGGTACAGCCCCACCA	0.507													25	33					1.1804e-14	1.38309e-14	1	0	A	10360801	C	A	10360801	2	1	103	1	0	0	0	0	0	0	0	1	10107	465	17	4		4	MYH4	17	10360801	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	56753	10360801	70834409	157	19798											
TEKT3	64518	broad.mit.edu	37	chr17	15231309	15231309	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttcccccacatttacCgtcagcagttgtgcttcaac	8	13	6	14	1	2	0	2	0	0	0	3	0	3	0	3	0	5	4	3	0	2	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:15231309C>A	ENST00000395930.1	-	4	849	c.663_splice	c.e4+1	p.T221_splice	TEKT3_ENST00000338696.2_Splice_Site_p.T221_splice	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	221					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CCACATTTACCGTCAGCAGTT	0.388													127	72					3.47496e-60	4.31118e-60	1	0	A	15231309	C	A	15231309	5	1	103	1	0	0	0	0	0	0	1	0	15848	666	23	3	833	3	TEKT3	17	15231309	Splice_Site	SNP	C	TCGA-CN-6024-01A-11D-1683-08	4870508	15231309	65963901	158	19799											
TRIM16	10626	broad.mit.edu	37	chr17	15532098	15532098	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtatcatactctacgccaTagaaggaaaggatccctccc	12	9	8	12	1	2	1	1	0	1	1	4	3	4	3	3	3	2	1	3	3	6	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:15532098T>C	ENST00000578237.1	-	11	2381	c.1526A>G	c.(1525-1527)tAt>tGt	p.Y509C	TRIM16_ENST00000577886.1_Missense_Mutation_p.Y293C|TRIM16_ENST00000579219.1_3'UTR|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.Y509C|TRIM16_ENST00000416464.2_Missense_Mutation_p.Y379C					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CTCTACGCCATAGAAGGAAAG	0.517													27	158					0	0	0	0	C	15532098	T	C	15532098	3	2	103	1	0	0	0	0	1	0	0	0	16586	1406	49	5	172	5	TRIM16	17	15532098	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08	300789	15532098	65663112	159	19800											
RFFL	117584	broad.mit.edu	37	chr17	33338994	33338994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgcaagctctcaggacCggaagacatgcacagctcgg	11	5	12	13	3	1	1	1	0	1	1	3	4	1	3	2	3	4	4	2	3	2	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:33338994C>T	ENST00000315249.7	-	7	1307	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	RFFL_ENST00000584655.1_Missense_Mutation_p.R326Q|RFFL_ENST00000268850.7_Missense_Mutation_p.R326Q|RFFL_ENST00000413582.2_Missense_Mutation_p.R354Q|RFFL_ENST00000415395.2_Missense_Mutation_p.R362Q|RFFL_ENST00000378516.2_Missense_Mutation_p.R354Q|RFFL_ENST00000447669.2_Missense_Mutation_p.R362Q|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.R271Q|RFFL_ENST00000394597.2_Missense_Mutation_p.R362Q			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	362					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTCAGGACCGGAAGACATG	0.547													8	24					0	0	0	0	T	33338994	C	T	33338994	3	4	103	1	0	0	0	0	1	0	0	0	13332	652	23	1	10	1	RFFL	17	33338994	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	17806896	33338994	47856216	160	19801											
KCNH4	23415	broad.mit.edu	37	chr17	40322268	40322268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgtgatgggccgcccaccGagccattgacatagggcacc	8	5	13	15	3	0	2	0	2	0	0	0	3	0	2	6	2	1	1	6	2	1	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:40322268G>A	ENST00000264661.3	-	8	1579	c.1247C>T	c.(1246-1248)tCg>tTg	p.S416L	KCNH4_ENST00000607371.1_Missense_Mutation_p.S416L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	416					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCCGCCCACCGAGCCATTGAC	0.632													9	8					0	0	0	0	A	40322268	G	A	40322268	3	1	103	1	0	0	0	0	1	0	0	0	8087	1059	37	1	1842	1	KCNH4	17	40322268	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	6983274	40322268	40872942	161	19802											
NGFR	4804	broad.mit.edu	37	chr17	47590198	47590198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgagctgggctaccagcccGagcacatagactcctttacc	9	7	10	15	2	0	1	0	0	0	1	1	3	1	1	4	1	5	3	4	1	3	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:47590198G>A	ENST00000172229.3	+	6	1236	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.E277K	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	371	Death.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CTACCAGCCCGAGCACATAGA	0.697													31	64					0	0	0	0	A	47590198	G	A	47590198	3	1	103	1	0	0	0	0	1	0	0	0	10466	1059	37	1	1133	1	NGFR	17	47590198	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	7267930	47590198	33605012	162	19803											
AXIN2	8313	broad.mit.edu	37	chr17	63532996	63532996	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggtgtttacctatggggcTtgggcttgctctgccgctca	3	13	14	11	2	2	0	1	0	1	0	2	0	2	0	2	4	3	5	2	4	2	5			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:63532996T>A	ENST00000307078.5	-	7	2211	c.1898A>T	c.(1897-1899)aAg>aTg	p.K633M	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	633				Missing (in Ref. 2; AAF22799).	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CCTATGGGGCTTGGGCTTGCT	0.652									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				37	107					0	0	0	0	A	63532996	T	A	63532996	3	1	103	1	0	0	0	0	1	0	0	0	1241	1609	56	5	653	5	AXIN2	17	63532996	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08	15942798	63532996	17662214	163	19804											
ITGB4	3691	broad.mit.edu	37	chr17	73751849	73751849	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgccctggggcccacAtctctcagagtgagctggca	6	10	11	14	0	3	2	1	1	2	1	5	2	3	2	2	3	2	2	2	3	0	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:73751849A>C	ENST00000200181.3	+	35	4813	c.4626A>C	c.(4624-4626)acA>acC	p.T1542T	ITGB4_ENST00000579662.1_Silent_p.T1472T|ITGB4_ENST00000450894.3_Silent_p.T1472T|ITGB4_ENST00000449880.2_Silent_p.T1525T|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Silent_p.T1525T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1542	Fibronectin type-III 3.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGGGCCCACATCTCTCAGAG	0.677													10	44					0	0	0	0	C	73751849	A	C	73751849	2	2	103	1	0	0	0	0	0	0	0	1	7950	204	8	5		5	ITGB4	17	73751849	Silent	SNP	A	TCGA-CN-6024-01A-11D-1683-08	10218853	73751849	7443361	164	19805											
LGALS3BP	3959	broad.mit.edu	37	chr17	76967771	76967771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctcttcgagctgttggtgtCcagggcactgggaatcgcag	6	10	15	10	2	1	0	0	0	1	0	4	2	2	1	1	3	1	5	1	3	1	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:76967771C>T	ENST00000262776.3	-	6	1953	c.1645G>A	c.(1645-1647)Gac>Aac	p.D549N	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	549					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTGTTGGTGTCCAGGGCACTG	0.607											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	56					0	0	0	0	T	76967771	C	T	76967771	3	4	103	1	0	0	0	0	1	0	0	0	8797	855	30	2	116	2	LGALS3BP	17	76967771	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	3215922	76967771	4227439	165	19806											
TMEM200C	645369	broad.mit.edu	37	chr18	5890315	5890324	+	Frame_Shift_Del	DEL	GGTGGCTCCT	GGTGGCTCCT	-																															gctgaggttgctcggccgtgGgtggctcctggctggcaccc																										TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr18:5890315_5890324delGGTGGCTCCT	ENST00000581347.1	-	3	2384_2393	c.1739_1748delAGGAGCCACC	c.(1738-1749)ccfs	p.QEPP580fs	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Frame_Shift_Del_p.QEPP580fs			A6NKL6	T200C_HUMAN	transmembrane protein 200C	580						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTCGGCCGTGGGTGGCTCCTGGCTGGCACC	0.6													8	85	---	---	---	---					-	5890324	GGTGGCTCCT	-	5890315	7	5	103	1	0	1	0	1	0	0	0	0	16219	1232	43	0	121	0	TMEM200C	18	5890315	Frame_Shift_Del	DEL	GGTGGCTCCT	TCGA-CN-6024-01A-11D-1683-08		5890315	72186933	166	19807											
DTNA	1837	broad.mit.edu	37	chr18	32428278	32428278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcatgcttgagagttcaaaCcggcttgatgaagaacacag	14	8	11	8	1	1	4	1	3	0	2	1	5	1	4	1	1	4	4	1	1	3	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr18:32428278C>A	ENST00000283365.9	+	13	1464	c.1113C>A	c.(1111-1113)aaC>aaA	p.N371K	DTNA_ENST00000348997.5_Missense_Mutation_p.N425K|DTNA_ENST00000444659.1_Missense_Mutation_p.N428K|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000269191.6_Missense_Mutation_p.N428K|DTNA_ENST00000556414.3_Missense_Mutation_p.N80K|DTNA_ENST00000399113.3_Missense_Mutation_p.N428K|DTNA_ENST00000598334.1_Missense_Mutation_p.N368K|DTNA_ENST00000598142.1_Missense_Mutation_p.N371K|DTNA_ENST00000591182.1_Missense_Mutation_p.N76K|DTNA_ENST00000595022.1_Missense_Mutation_p.N368K|DTNA_ENST00000599844.1_Missense_Mutation_p.N50K|DTNA_ENST00000399121.5_Missense_Mutation_p.N368K|DTNA_ENST00000597599.1_Missense_Mutation_p.N368K|DTNA_ENST00000269190.7_Missense_Mutation_p.N429K|DTNA_ENST00000601125.1_Missense_Mutation_p.N50K|DTNA_ENST00000399097.3_Missense_Mutation_p.N76K|DTNA_ENST00000597674.1_Missense_Mutation_p.N50K|DTNA_ENST00000598774.1_Missense_Mutation_p.N371K|DTNA_ENST00000269192.7_Missense_Mutation_p.N137K	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	400					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGAGTTCAAACCGGCTTGATG	0.448													19	14					4.35082e-09	4.82961e-09	1	0	A	32428278	C	A	32428278	3	1	103	1	0	0	0	0	1	0	0	0	4824	506	18	4	1369	4	DTNA	18	32428278	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	26537963	32428278	45648970	167	19808											
ADAMTSL5	339366	broad.mit.edu	37	chr19	1506029	1506029	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggctcagccaggacagcgCcgggcagtcaggcgtatgcg	7	4	18	12	4	2	0	2	0	0	0	2	1	2	1	2	5	3	3	2	5	1	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:1506029C>T	ENST00000330475.4	-	12	1844	c.1401G>A	c.(1399-1401)cgG>cgA	p.R467R	ADAMTSL5_ENST00000413997.2_Silent_p.R477R|ADAMTSL5_ENST00000395467.2_3'UTR|ADAMTSL5_ENST00000590562.1_5'UTR	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	467	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGACAGCGCCGGGCAGTCA	0.672													9	6					0	0	0	0	T	1506029	C	T	1506029	2	4	103	1	0	0	0	0	0	0	0	1	278	726	26	4		4	ADAMTSL5	19	1506029	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08		1506029	57622954	168	19809											
MUC16	94025	broad.mit.edu	37	chr19	9058238	9058238	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacaggagaaagtgaggtCgtgagaggtaatgatgtcag	14	7	16	4	1	1	4	1	3	0	2	2	7	1	4	0	3	0	1	0	3	2	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:9058238C>A	ENST00000397910.4	-	3	29411	c.29208G>T	c.(29206-29208)acG>acT	p.T9736T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9738	Ser-rich.|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						AAAGTGAGGTCGTGAGAGGTA	0.502													15	23					0.00244969	0.00257163	1	0	A	9058238	C	A	9058238	2	1	103	1	0	0	0	0	0	0	0	1	10043	871	31	3		3	MUC16	19	9058238	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	7552209	9058238	50070745	169	19810											
OR7D4	125958	broad.mit.edu	37	chr19	9324922	9324922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtggccacatacaagaCaatgttattgaggagggtgt	11	10	13	7	1	0	2	0	1	0	1	0	3	0	3	2	3	2	1	2	3	4	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:9324922C>A	ENST00000308682.2	-	1	620	c.592G>T	c.(592-594)Gtc>Ttc	p.V198F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ACATACAAGACAATGTTATTG	0.522													14	85					6.31663e-08	6.9453e-08	1	0	A	9324922	C	A	9324922	3	1	103	1	0	0	0	0	1	0	0	0	11291	478	17	4	350	4	OR7D4	19	9324922	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	266684	9324922	49804061	170	19811											
SLC44A2	57153	broad.mit.edu	37	chr19	10738659	10738659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagccggggcgagttctgcgGgcagaagggcacaaaaaacg	12	3	16	10	4	1	1	0	0	1	1	1	2	1	1	1	4	3	3	1	4	4	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:10738659G>A	ENST00000586078.1	+	4	333	c.224G>A	c.(223-225)gGg>gAg	p.G75E	SLC44A2_ENST00000407327.4_Missense_Mutation_p.G73E|SLC44A2_ENST00000335757.5_Missense_Mutation_p.G75E	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	75					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GAGTTCTGCGGGCAGAAGGGC	0.572													12	12					0	0	0	0	A	10738659	G	A	10738659	3	1	103	1	0	0	0	0	1	0	0	0	14724	1232	43	4	273	4	SLC44A2	19	10738659	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	1413737	10738659	48390324	171	19812											
ZNF799	90576	broad.mit.edu	37	chr19	12501389	12501389	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtttttttccagtgagtcTttttatgtctatgcaaggaa	9	18	9	5	0	2	1	0	1	2	0	3	3	3	2	1	1	1	2	1	1	4	7			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:12501389T>A	ENST00000419318.1	-	4	2476	c.1727A>T	c.(1726-1728)aAg>aTg	p.K576M	ZNF799_ENST00000430385.3_Missense_Mutation_p.K608M|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CCAGTGAGTCTTTTTATGTCT	0.403													54	96					0	0	0	0	A	12501389	T	A	12501389	3	1	103	1	0	0	0	0	1	0	0	0	18259	1609	56	5	112	5	ZNF799	19	12501389	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08	1762730	12501389	46627594	172	19813											
NOTCH3	4854	broad.mit.edu	37	chr19	15296203	15296204	+	Frame_Shift_Del	DEL	CA	CA	-																															ggggccactccagccaggctCacacacacagcggaacctgg																										TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:15296203_15296204delCA	ENST00000263388.2	-	14	2235_2236	c.2160_2161delTG	c.(2158-2163)tgagfs	p.CE720fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	720	EGF-like 18.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGCCAGGCTCACACACACAGC	0.688													11	14	---	---	---	---					-	15296204	CA	-	15296203	7	5	103	1	0	1	0	1	0	0	0	0	10620	835	29	0	4884	0	NOTCH3	19	15296203	Frame_Shift_Del	DEL	CA	TCGA-CN-6024-01A-11D-1683-08	2794814	15296203	43832780	173	19814											
PGLYRP2	114770	broad.mit.edu	37	chr19	15580523	15580523	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcaccagctggcggtggcCcagcagcgcgtagtctggcc	5	5	16	15	4	1	0	0	0	1	0	1	0	1	0	3	4	3	4	3	4	1	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:15580523C>A	ENST00000292609.4	-	4	1690	c.1561G>T	c.(1561-1563)Ggc>Tgc	p.G521C	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.G521C			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	521					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TGGCGGTGGCCCAGCAGCGCG	0.746													5	11					0.014758	0.0154228	1	0	A	15580523	C	A	15580523	3	1	103	1	0	0	0	0	1	0	0	0	11866	623	22	4	177	4	PGLYRP2	19	15580523	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	284320	15580523	43548460	174	19815											
UNC13A	23025	broad.mit.edu	37	chr19	17740103	17740103	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtccttggagatgatgtcTgcatactggaggagcacatt	11	11	12	7	0	1	2	0	1	1	1	2	5	2	4	1	3	3	2	1	3	2	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:17740103T>A	ENST00000428389.2	-	32	3962	c.3963A>T	c.(3961-3963)gcA>gcT	p.A1321A	UNC13A_ENST00000252773.7_Silent_p.A1233A|UNC13A_ENST00000551649.1_Silent_p.A1233A|UNC13A_ENST00000550896.1_Silent_p.A1231A|UNC13A_ENST00000519716.2_Silent_p.A1233A|UNC13A_ENST00000552293.1_Silent_p.A1233A			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1233					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGATGATGTCTGCATACTGGA	0.577													8	15					0	0	0	0	A	17740103	T	A	17740103	2	1	103	1	0	0	0	0	0	0	0	1	17080	1567	55	5		5	UNC13A	19	17740103	Silent	SNP	T	TCGA-CN-6024-01A-11D-1683-08	2159580	17740103	41388880	175	19816											
ZNF93	81931	broad.mit.edu	37	chr19	20044894	20044894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtgaagaatgtggcaaagCcttcatttggtcctcagtcc	10	12	10	9	0	2	2	2	1	0	1	4	2	4	2	3	2	1	1	3	2	3	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:20044894C>T	ENST00000343769.5	+	4	1158	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	377						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TGTGGCAAAGCCTTCATTTGG	0.393													26	42					0	0	0	0	T	20044894	C	T	20044894	3	4	103	1	0	0	0	0	1	0	0	0	18295	739	26	4	1144	4	ZNF93	19	20044894	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	2304791	20044894	39084089	176	19817											
ZNF829	374899	broad.mit.edu	37	chr19	37398928	37398928	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttagaattggaaagtccTgttcacaagaaaagacatgg	15	9	11	6	0	1	3	1	0	0	3	2	4	2	4	1	3	0	2	1	3	6	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:37398928T>C	ENST00000520965.1	-	5	533		c.e5-2		ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Splice_Site	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGAAAGTCCTGTTCACAAGA	0.468													9	33					0	0	0	0	C	37398928	T	C	37398928	5	2	103	1	0	0	0	0	0	0	1	0	18275	1594	55	5	1084	5	ZNF829	19	37398928	Splice_Site	SNP	T	TCGA-CN-6024-01A-11D-1683-08	17354034	37398928	21730055	177	19818											
ZNF420	147923	broad.mit.edu	37	chr19	37618477	37618477	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatactggtgagaaaccctAtgcatgtaaggaatgtggga	13	10	12	6	0	1	1	1	1	0	1	1	4	1	3	1	3	3	2	1	3	5	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:37618477A>G	ENST00000337995.3	+	5	799	c.584A>G	c.(583-585)tAt>tGt	p.Y195C	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.Y195C	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAACCCTATGCATGTAAG	0.388													13	37					0	0	0	0	G	37618477	A	G	37618477	3	3	103	1	0	0	0	0	1	0	0	0	17992	449	16	5	594	5	ZNF420	19	37618477	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	219549	37618477	21510506	178	19819											
MAP4K1	11184	broad.mit.edu	37	chr19	39103266	39103266	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacctgagagggtgcacaTcaaagagcggtggctgtagc	10	7	14	10	1	1	2	1	1	0	2	1	3	1	2	2	3	4	3	2	3	3	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:39103266T>A	ENST00000591517.1	-	9	678	c.650A>T	c.(649-651)gAt>gTt	p.D217V	MAP4K1_ENST00000589130.1_Missense_Mutation_p.D213V|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Missense_Mutation_p.D217V|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D217V	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	217	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGGTGCACATCAAAGAGCGG	0.627													22	31					0	0	0	0	A	39103266	T	A	39103266	3	1	103	1	0	0	0	0	1	0	0	0	9328	1435	50	5	2009	5	MAP4K1	19	39103266	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08	1484789	39103266	20025717	179	19820											
ZNF180	7733	broad.mit.edu	37	chr19	44981291	44981291	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggataaatgatttcccacaTtgattacattcatagggctt	12	15	7	7	0	1	2	1	2	0	0	2	3	2	3	1	2	1	1	1	2	4	7			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:44981291T>A	ENST00000221327.4	-	5	1688	c.1407A>T	c.(1405-1407)caA>caT	p.Q469H	ZNF180_ENST00000391956.4_Missense_Mutation_p.Q444H|ZNF180_ENST00000592529.1_Missense_Mutation_p.Q442H	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ATTTCCCACATTGATTACATT	0.368													21	62					0	0	0	0	A	44981291	T	A	44981291	3	1	103	1	0	0	0	0	1	0	0	0	17843	1490	52	5	675	5	ZNF180	19	44981291	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08	5878025	44981291	14147692	180	19821											
PRKCG	5582	broad.mit.edu	37	chr19	54396287	54396287	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagtattacaatgtgccGgtggccgatgctgacaactg	9	9	14	9	3	0	1	0	1	0	0	0	3	0	1	2	3	4	2	2	3	4	2	rs139506301		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:54396287G>A	ENST00000263431.3	+	8	1149	c.867G>A	c.(865-867)ccG>ccA	p.P289P	PRKCG_ENST00000540413.1_Silent_p.P289P|PRKCG_ENST00000542049.1_Silent_p.P176P|PRKCG_ENST00000536044.1_Intron	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	289					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACAATGTGCCGGTGGCCGATG	0.607													4	23					0	0	0	0	A	54396287	G	A	54396287	2	1	103	1	0	0	0	0	0	0	0	1	12592	1103	39	1		1	PRKCG	19	54396287	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	9414996	54396287	4732696	181	19822											
ZNF71	58491	broad.mit.edu	37	chr19	57133988	57133988	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtgcggccagtgcgggAagtccttcatcaagaactcc	10	7	12	12	2	2	1	2	0	0	1	4	2	4	2	3	3	3	0	3	3	3	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:57133988A>T	ENST00000328070.6	+	3	1567	c.1333A>T	c.(1333-1335)Aag>Tag	p.K445*		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	445						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCAGTGCGGGAAGTCCTTCAT	0.647													17	24					0	0	0	0	T	57133988	A	T	57133988	4	4	103	1	0	0	0	0	0	1	0	0	18209	247	9	5	1335	5	ZNF71	19	57133988	Nonsense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	2737701	57133988	1994995	182	19823											
ZNF835	90485	broad.mit.edu	37	chr19	57175706	57175706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggtgcgcgatctgcgcGaaggccttggcgcactggcc	5	7	16	13	5	2	0	1	0	1	0	2	2	2	0	2	4	2	1	2	4	1	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:57175706G>T	ENST00000537055.2	-	2	1092	c.861C>A	c.(859-861)ttC>ttA	p.F287L		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGATCTGCGCGAAGGCCTTGG	0.697													3	2					0.115264	0.118324	1	0	T	57175706	G	T	57175706	3	4	103	1	0	0	0	0	1	0	0	0	18279	1049	37	3	754	3	ZNF835	19	57175706	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	41718	57175706	1953277	183	19824											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673192	3673192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttgcagggcagcaggacGggagctgcgggtgccctggg	6	5	20	10	2	0	0	0	0	0	0	0	3	0	2	1	5	5	4	1	5	0	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:3673192G>A	ENST00000344754.4	-	15	4005	c.4006C>T	c.(4006-4008)Cgt>Tgt	p.R1336C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1336C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1336	Ig-like C2-type 13.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAGCAGGACGGGAGCTGCGG	0.682													5	14					0	0	0	0	A	3673192	G	A	3673192	3	1	103	1	0	0	0	0	1	0	0	0	14393	1116	39	1	1151	1	SIGLEC1	20	3673192	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08		3673192	59352328	184	19825											
FOXA2	3170	broad.mit.edu	37	chr20	22563619	22563619	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccatggcgcccgcgccgggGgacatccccgccagggacgg	5	2	17	17	6	0	0	0	0	0	0	1	2	1	2	6	5	0	0	6	5	0	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:22563619G>C	ENST00000419308.2	-	2	445	c.243C>G	c.(241-243)tcC>tcG	p.S81S	FOXA2_ENST00000319993.4_Silent_p.S87S|FOXA2_ENST00000377115.4_Silent_p.S81S	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	81	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CCGCGCCGGGGGACATCCCCG	0.766													19	37					0	0	0	0	C	22563619	G	C	22563619	2	2	103	1	0	0	0	0	0	0	0	1	6035	1219	43	4		4	FOXA2	20	22563619	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	18890427	22563619	40461901	185	19826											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31967483	31967483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattctgaccaagaagtgtCacttctttcagcccctaaac	12	11	5	13	0	4	2	2	1	2	1	4	2	4	2	3	0	2	0	3	0	4	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:31967483C>T	ENST00000357886.4	-	9	1086	c.933G>A	c.(931-933)gtG>gtA	p.V311V	CDK5RAP1_ENST00000544843.1_Silent_p.V297V|CDK5RAP1_ENST00000346416.2_Silent_p.V297V|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000452723.3_Silent_p.V207V			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	311					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CAAGAAGTGTCACTTCTTTCA	0.368													8	58					0	0	0	0	T	31967483	C	T	31967483	2	4	103	1	0	0	0	0	0	0	0	1	3174	813	29	2		2	CDK5RAP1	20	31967483	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	9403864	31967483	31058037	186	19827			1	26		2	2	16	C		9.738944e-05
CDK5RAP1	51654	broad.mit.edu	37	chr20	31967498	31967498	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcacttctttcagcccCtaaacatgggaaaatatatt	13	13	6	9	0	3	0	2	0	1	0	3	1	3	1	2	1	2	0	2	1	6	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:31967498C>G	ENST00000357886.4	-	9	1072		c.e9-1		CDK5RAP1_ENST00000544843.1_Splice_Site|CDK5RAP1_ENST00000346416.2_Splice_Site|CDK5RAP1_ENST00000473997.1_Splice_Site|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000452723.3_Splice_Site			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1						brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTTTCAGCCCCTAAACATGGG	0.343													7	51					0	0	0	0	G	31967498	C	G	31967498	5	3	103	1	0	0	0	0	0	0	1	0	3174	695	24	4	915	4	CDK5RAP1	20	31967498	Splice_Site	SNP	C	TCGA-CN-6024-01A-11D-1683-08	15	31967498	31058022	187	19828			1	26		2	2	16	C		9.738944e-05
GDF5	8200	broad.mit.edu	37	chr20	34021968	34021968	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgcgatgatccagtcGtcccagcccatgtccttgaa	8	9	12	12	2	0	2	0	2	0	0	4	3	3	2	4	2	2	0	4	2	1	1			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:34021968G>A	ENST00000374372.1	-	4	1748	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	GDF5OS_ENST00000374375.1_Silent_p.S4S|GDF5_ENST00000374369.3_Silent_p.D415D			P43026	GDF5_HUMAN	growth differentiation factor 5	415					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGATCCAGTCGTCCCAGCCCA	0.607													128	58					0	0	0	0	A	34021968	G	A	34021968	2	1	103	1	0	0	0	0	0	0	0	1	6367	1136	40	1		1	GDF5	20	34021968	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	2054470	34021968	29003552	188	19829											
ZBTB46	140685	broad.mit.edu	37	chr20	62378483	62378483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcctgggaacagcgcctctgGagagccctcgccgcctccgc	5	5	13	18	4	1	1	0	0	1	1	3	3	2	2	6	2	3	0	6	2	1	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:62378483G>C	ENST00000245663.4	-	5	1720	c.1570C>G	c.(1570-1572)Cca>Gca	p.P524A	ZBTB46_ENST00000302995.2_Missense_Mutation_p.P524A|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P524A	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AGCGCCTCTGGAGAGCCCTCG	0.736													5	13					0	0	0	0	C	62378483	G	C	62378483	3	2	103	1	0	0	0	0	1	0	0	0	17642	1174	41	2	203	2	ZBTB46	20	62378483	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	28356515	62378483	647037	189	19830											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812926	31812926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagactaactacataagatCccttggatgtggaaacactg	14	9	8	10	0	0	2	0	0	0	2	1	4	1	4	2	2	3	0	2	2	4	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr21:31812926C>T	ENST00000334067.3	+	1	330	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	94						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TACATAAGATCCCTTGGATGT	0.502													12	86					0	0	0	0	T	31812926	C	T	31812926	3	4	103	1	0	0	0	0	1	0	0	0	8578	855	30	2	283	2	KRTAP15-1	21	31812926	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08		31812926	16316969	190	19831											
POFUT2	23275	broad.mit.edu	37	chr21	46685544	46685544	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgagactgaggtgccaatAaaaaacctgcaaaggatcac	16	7	10	8	0	1	2	1	2	0	1	1	4	1	3	2	2	3	2	2	2	5	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr21:46685544A>G	ENST00000349485.5	-	9	1169	c.1143T>C	c.(1141-1143)ttT>ttC	p.F381F	POFUT2_ENST00000331343.7_3'UTR|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	381					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		AGGTGCCAATAAAAAACCTGC	0.498													12	13					0	0	0	0	G	46685544	A	G	46685544	2	3	103	1	0	0	0	0	0	0	0	1	12256	359	13	5		5	POFUT2	21	46685544	Silent	SNP	A	TCGA-CN-6024-01A-11D-1683-08	14872618	46685544	1444351	191	19832											
MYO18B	84700	broad.mit.edu	37	chr22	26317306	26317306	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttgtcagacgtgcagcTccttctgggcaccatggagg	7	10	13	11	1	2	1	1	0	1	1	3	2	3	2	2	3	2	4	2	3	0	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:26317306T>C	ENST00000335473.7	+	34	5697	c.5447T>C	c.(5446-5448)cTc>cCc	p.L1816P	MYO18B_ENST00000407587.2_Missense_Mutation_p.L1817P|MYO18B_ENST00000536101.1_Missense_Mutation_p.L1816P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1816	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GACGTGCAGCTCCTTCTGGGC	0.552													6	1					0	0	0	0	C	26317306	T	C	26317306	3	2	103	1	0	0	0	0	1	0	0	0	10136	1551	54	5	5577	5	MYO18B	22	26317306	Missense_Mutation	SNP	T	TCGA-CN-6024-01A-11D-1683-08		26317306	24987260	192	19833											
TPST2	8459	broad.mit.edu	37	chr22	26937142	26937142	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgttgcagagcacgcggGccggctctccgtgcttggca	4	9	14	14	4	1	1	0	0	1	1	2	1	1	1	3	3	3	6	3	3	0	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:26937142G>C	ENST00000338754.4	-	3	725	c.455C>G	c.(454-456)gCc>gGc	p.A152G	TPST2_ENST00000403880.1_Missense_Mutation_p.A152G|TPST2_ENST00000398110.2_Missense_Mutation_p.A152G	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	152					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GAGCACGCGGGCCGGCTCTCC	0.637													26	47					0	0	0	0	C	26937142	G	C	26937142	3	2	103	1	0	0	0	0	1	0	0	0	16523	1203	42	4	694	4	TPST2	22	26937142	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	619836	26937142	24367424	193	19834											
KREMEN1	83999	broad.mit.edu	37	chr22	29490261	29490261	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctagagtgtttcacagccaAtggtgcggattataggggaa	11	11	13	6	1	2	1	1	0	1	1	2	3	2	3	1	4	2	1	1	4	5	4	rs35199515		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:29490261A>G	ENST00000400338.2	+	2	166	c.113A>G	c.(112-114)aAt>aGt	p.N38S	KREMEN1_ENST00000400335.4_Missense_Mutation_p.N38S|KREMEN1_ENST00000407188.1_Missense_Mutation_p.N36S|KREMEN1_ENST00000327813.5_Missense_Mutation_p.N38S			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	36	Kringle.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						TTCACAGCCAATGGTGCGGAT	0.428													36	56					0	0	0	0	G	29490261	A	G	29490261	3	3	103	1	0	0	0	0	1	0	0	0	8494	101	4	5	119	5	KREMEN1	22	29490261	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	2553119	29490261	21814305	194	19835											
CACNA1I	8911	broad.mit.edu	37	chr22	40060149	40060149	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacggccatcttcgtgggCgagatgacattgaaggtagc	9	10	13	9	3	2	3	1	2	1	1	3	4	2	3	1	3	1	1	1	3	2	4			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:40060149C>T	ENST00000336649.4	+	23	3669	c.3669C>T	c.(3667-3669)ggC>ggT	p.G1223G	CACNA1I_ENST00000407673.1_Silent_p.G1182G|CACNA1I_ENST00000404898.1_Silent_p.G1182G|CACNA1I_ENST00000402142.3_Silent_p.G1217G|CACNA1I_ENST00000401624.1_Silent_p.G1217G|CACNA1I_ENST00000400164.3_Silent_p.G1182G			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1217					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCTTCGTGGGCGAGATGACAT	0.612													6	19					0	0	0	0	T	40060149	C	T	40060149	2	4	103	1	0	0	0	0	0	0	0	1	2571	755	27	1		1	CACNA1I	22	40060149	Silent	SNP	C	TCGA-CN-6024-01A-11D-1683-08	10569888	40060149	11244417	195	19836											
ZC3H7B	23264	broad.mit.edu	37	chr22	41753426	41753426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctgccaccgccaccactgGggagtagggccaggtgttgg	6	7	16	12	1	0	0	0	0	0	0	0	1	0	1	5	5	2	3	5	5	1	2			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:41753426G>T	ENST00000352645.4	+	23	3184	c.2927G>T	c.(2926-2928)gGg>gTg	p.G976V	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G976V	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	992					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GCCACCACTGGGGAGTAGGGC	0.662													40	75					1.4709e-25	1.81515e-25	1	0	T	41753426	G	T	41753426	3	4	103	1	0	0	0	0	1	0	0	0	17668	1232	43	4	3013	4	ZC3H7B	22	41753426	Missense_Mutation	SNP	G	TCGA-CN-6024-01A-11D-1683-08	1693277	41753426	9551140	196	19837											
RS1	6247	broad.mit.edu	37	chrX	18660166	18660166	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcagctccatccggatGgcaatgcggacgtgccagcc	8	6	12	15	3	0	0	0	0	0	0	3	2	3	2	5	3	5	3	5	3	1	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:18660166G>A	ENST00000379984.3	-	6	673	c.633C>T	c.(631-633)gcC>gcT	p.A211A	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	211	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CCATCCGGATGGCAATGCGGA	0.677													34	10					0	0	0	0	A	18660166	G	A	18660166	2	1	103	1	0	0	0	0	0	0	0	1	13778	1335	47	4		4	RS1	23	18660166	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08		18660166	136610394	197	19838											
DMD	1756	broad.mit.edu	37	chrX	31227736	31227736	+	Frame_Shift_Del	DEL	G	G	-																															caaacaattaataatctgcaGgatatccatgggctggtcat																										TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:31227736delG	ENST00000357033.4	-	65	9648	c.9442delC	c.(9442-9444)tgfs	p.L3148fs	DMD_ENST00000378707.3_Frame_Shift_Del_p.L688fs|DMD_ENST00000378677.2_Frame_Shift_Del_p.L3144fs|DMD_ENST00000361471.4_Frame_Shift_Del_p.L80fs|DMD_ENST00000378702.4_Frame_Shift_Del_p.L80fs|DMD_ENST00000474231.1_Frame_Shift_Del_p.L688fs|DMD_ENST00000378723.3_Frame_Shift_Del_p.L80fs|DMD_ENST00000359836.1_Frame_Shift_Del_p.L688fs|DMD_ENST00000541735.1_Frame_Shift_Del_p.L688fs|DMD_ENST00000343523.2_Frame_Shift_Del_p.L688fs|DMD_ENST00000378680.2_Frame_Shift_Del_p.L80fs	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3148	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATAATCTGCAGGATATCCATG	0.448													21	11	---	---	---	---					-	31227736	G	-	31227736	7	5	103	1	0	1	0	1	0	0	0	0	4617	991	35	0	1765	0	DMD	23	31227736	Frame_Shift_Del	DEL	G	TCGA-CN-6024-01A-11D-1683-08	12567570	31227736	124042824	198	19839											
MTMR8	55613	broad.mit.edu	37	chrX	63445187	63445187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtccagatggccatgaCtgacagcagtgaaaagtggc	13	6	12	10	0	0	4	0	3	0	1	1	4	1	4	2	2	1	1	2	2	2	0			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:63445187C>G	ENST00000453546.1	-	10	1558	c.1469G>C	c.(1468-1470)aGt>aCt	p.S490T	ASB12_ENST00000362002.2_Missense_Mutation_p.S115T|ASB12_ENST00000396130.2_Missense_Mutation_p.S106T			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	306	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ATGGCCATGACTGACAGCAGT	0.527													7	5					0	0	0	0	G	63445187	C	G	63445187	3	3	103	1	0	0	0	0	1	0	0	0	10019	565	20	4		4	MTMR8	23	63445187	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	32217451	63445187	91825373	199	19840											
PHKA1	5255	broad.mit.edu	37	chrX	71887231	71887231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataatattttacctggcaGtgctgtacttcatcagccag	10	13	7	11	0	2	0	2	0	0	0	2	0	2	0	3	1	4	3	3	1	4	6			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:71887231G>A	ENST00000373545.3	-	7	1149	c.711C>T	c.(709-711)caC>caT	p.H237H	PHKA1_ENST00000541944.1_Silent_p.H237H|PHKA1_ENST00000373539.3_Silent_p.H237H|PHKA1_ENST00000339490.3_Silent_p.H237H|PHKA1_ENST00000373542.4_Silent_p.H237H			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	237					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TTACCTGGCAGTGCTGTACTT	0.423													18	7					0	0	0	0	A	71887231	G	A	71887231	2	1	103	1	0	0	0	0	0	0	0	1	11915	1020	36	4		4	PHKA1	23	71887231	Silent	SNP	G	TCGA-CN-6024-01A-11D-1683-08	8442044	71887231	83383329	200	19841											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104512216	104512216	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagacgaacaactgaattgaAagttacaggtaggaatcagt	18	8	10	5	1	1	3	1	2	0	1	1	5	1	4	0	2	3	2	0	2	8	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:104512216A>C	ENST00000372582.1	+	5	1445	c.689A>C	c.(688-690)aAa>aCa	p.K230T	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K230T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	230	Ig-like C2-type 2.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACTGAATTGAAAGTTACAGGT	0.333													25	10					0	0	0	0	C	104512216	A	C	104512216	3	2	103	1	0	0	0	0	1	0	0	0	7715	14	1	5	703	5	IL1RAPL2	23	104512216	Missense_Mutation	SNP	A	TCGA-CN-6024-01A-11D-1683-08	32624985	104512216	50758344	201	19842											
COL4A6	1288	broad.mit.edu	37	chrX	107553986	107553986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcaacttactctcgctcCtttctcaggaaaacactgac	12	11	5	13	1	2	1	1	1	2	0	5	2	3	2	1	1	4	2	1	1	5	3			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:107553986C>T	ENST00000334504.7	-	3	369	c.136G>A	c.(136-138)Gga>Aga	p.G46R	COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000538570.1_Missense_Mutation_p.G46R|COL4A6_ENST00000394872.2_Missense_Mutation_p.G46R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G46R|COL4A6_ENST00000372216.4_Missense_Mutation_p.G47R	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	47	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACTCTCGCTCCTTTCTCAGGA	0.383									Alport syndrome with Diffuse Leiomyomatosis				41	7					0	0	0	0	T	107553986	C	T	107553986	3	4	103	1	0	0	0	0	1	0	0	0	3725	690	24	4	5108	4	COL4A6	23	107553986	Missense_Mutation	SNP	C	TCGA-CN-6024-01A-11D-1683-08	3041770	107553986	47716574	202	19843											
CCDC27	148870	broad.mit.edu	37	chr1	3669095	3669095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccaggctgaagagagAtccacgggaaaagccgggcc	13	2	14	12	2	0	3	0	1	0	2	1	5	1	4	5	3	2	1	5	3	4	0			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:3669095A>G	ENST00000294600.2	+	1	134	c.50A>G	c.(49-51)gAt>gGt	p.D17G		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	17										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CTGAAGAGAGATCCACGGGAA	0.572													13	45					0	0	0	0	G	3669095	A	G	3669095	3	3	104	1	0	0	0	0	1	0	0	0	2827	333	12	5	52	5	CCDC27	1	3669095	Missense_Mutation	SNP	A	TCGA-CN-6988-01A-11D-1912-08		3669095	245581526	1	19844											
NBPF1	55672	broad.mit.edu	37	chr1	16891305	16891305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caattgctgaaagttacctgGggcatggtgggttttgatct	8	14	13	6	0	1	2	0	2	1	0	1	2	1	2	1	4	2	4	1	4	3	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:16891305G>A	ENST00000430580.2	-	28	4060	c.3173C>T	c.(3172-3174)cCc>cTc	p.P1058L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1038	NBPF 7.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAGTTACCTGGGGCATGGTGG	0.438													8	521					0	0	0	0	A	16891305	G	A	16891305	3	1	104	1	0	0	0	0	1	0	0	0	10262	1232	43	4	254	4	NBPF1	1	16891305	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	13222210	16891305	232359316	2	19845											
FOXJ3	22887	broad.mit.edu	37	chr1	42660589	42660589	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagtgactgctcaaaaacTgacttataaaggctccgaaa	16	9	7	9	1	1	2	1	2	0	0	2	3	2	2	1	1	2	2	1	1	7	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:42660589T>G	ENST00000372572.1	-	10	1217	c.906A>C	c.(904-906)tcA>tcC	p.S302S	FOXJ3_ENST00000372573.1_Silent_p.S302S|FOXJ3_ENST00000361776.1_Silent_p.S268S|FOXJ3_ENST00000361346.1_Silent_p.S302S|FOXJ3_ENST00000545068.1_Silent_p.S302S	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	302					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTCAAAAACTGACTTATAAA	0.323													47	100					0	0	0	0	G	42660589	T	G	42660589	2	3	104	1	0	0	0	0	0	0	0	1	6060	1567	55	5		5	FOXJ3	1	42660589	Silent	SNP	T	TCGA-CN-6988-01A-11D-1912-08	25769284	42660589	206590032	3	19846											
SLC35D1	23169	broad.mit.edu	37	chr1	67518538	67518538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactgccactgtggccacCatctgtaaacaagagaacac	15	6	8	12	0	1	2	0	0	1	2	1	3	1	2	3	1	4	1	3	1	5	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:67518538C>T	ENST00000235345.5	-	3	325	c.240G>A	c.(238-240)atG>atA	p.M80I	SLC35D1_ENST00000506472.2_Start_Codon_SNP_p.M1I	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	80					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	CTGTGGCCACCATCTGTAAAC	0.433													25	68					0	0	0	0	T	67518538	C	T	67518538	3	4	104	1	0	0	0	0	1	0	0	0	14669	594	21	4	867	4	SLC35D1	1	67518538	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	24857949	67518538	181732083	4	19847											
COL24A1	255631	broad.mit.edu	37	chr1	86200620	86200620	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaaatgaaggaagttcaTctggactttcccaactccaa	14	10	7	10	0	2	1	1	1	1	0	4	3	4	3	2	2	1	2	2	2	6	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:86200620T>C	ENST00000370571.2	-	59	5176	c.4810A>G	c.(4810-4812)Atg>Gtg	p.M1604V	COL24A1_ENST00000436319.1_Missense_Mutation_p.M1583V	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1604	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGGAAGTTCATCTGGACTTTC	0.433													16	38					0	0	0	0	C	86200620	T	C	86200620	3	2	104	1	0	0	0	0	1	0	0	0	3713	1435	50	5	342	5	COL24A1	1	86200620	Missense_Mutation	SNP	T	TCGA-CN-6988-01A-11D-1912-08	18682082	86200620	163050001	5	19848											
MTF2	22823	broad.mit.edu	37	chr1	93602558	93602558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaaaggtgcagtatcttgtgGaatgggaaggagcaactgca	13	8	15	5	0	1	0	0	0	1	0	1	4	1	3	0	4	4	4	0	4	5	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:93602558G>C	ENST00000370298.4	+	15	2045	c.1756G>C	c.(1756-1758)Gaa>Caa	p.E586Q	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Missense_Mutation_p.E484Q|MTF2_ENST00000370303.4_Missense_Mutation_p.E529Q|MTF2_ENST00000545708.1_Missense_Mutation_p.E484Q	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	586						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GTATCTTGTGGAATGGGAAGG	0.458													18	35					0	0	0	0	C	93602558	G	C	93602558	3	2	104	1	0	0	0	0	1	0	0	0	9993	1175	41	2	1814	2	MTF2	1	93602558	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	7401938	93602558	155648063	6	19849											
SLC16A1	6566	broad.mit.edu	37	chr1	113460045	113460045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcaaagaaatactgaattCgaggtcttattggctttgtg	11	13	10	7	2	1	2	0	1	1	1	2	3	1	2	1	2	1	2	1	2	5	5			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:113460045C>T	ENST00000538576.1	-	4	1814	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	SLC16A1_ENST00000433570.4_Missense_Mutation_p.R328Q|SLC16A1_ENST00000369626.3_Missense_Mutation_p.R328Q	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	328					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	ATACTGAATTCGAGGTCTTAT	0.453													8	24					0	0	0	0	T	113460045	C	T	113460045	3	4	104	1	0	0	0	0	1	0	0	0	14490	884	31	1	527	1	SLC16A1	1	113460045	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	19857487	113460045	135790576	7	19850											
PIP5K1A	8394	broad.mit.edu	37	chr1	151206795	151206795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaccaagatcggtaaaaatGcatatcaaatatgacctcaa	18	10	5	8	1	2	2	2	1	0	1	3	2	2	2	2	1	2	2	2	1	9	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:151206795G>A	ENST00000409426.1	+	7	1171	c.726G>A	c.(724-726)atG>atA	p.M242I	PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.M254I|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.M241I|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.M242I			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	254	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGGTAAAAATGCATATCAAAT	0.443													17	50					0	0	0	0	A	151206795	G	A	151206795	3	1	104	1	0	0	0	0	1	0	0	0	12011	1319	46	4	792	4	PIP5K1A	1	151206795	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	37746750	151206795	98043826	8	19851											
PGLYRP4	57115	broad.mit.edu	37	chr1	153318647	153318647	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatacctgtttagcttgtgTtttgttccaggaggaatcac	8	16	10	7	0	1	1	1	1	0	0	2	3	2	3	2	2	2	4	2	2	3	7			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:153318647T>C	ENST00000368739.3	-	3	428	c.70A>G	c.(70-72)Aca>Gca	p.T24A	PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Missense_Mutation_p.T24A			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	24					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTAGCTTGTGTTTTGTTCCAG	0.463													100	73					0	0	0	0	C	153318647	T	C	153318647	3	2	104	1	0	0	0	0	1	0	0	0	11868	1725	60	5	1079	5	PGLYRP4	1	153318647	Missense_Mutation	SNP	T	TCGA-CN-6988-01A-11D-1912-08	2111852	153318647	95931974	9	19852											
FCGR3A	2214	broad.mit.edu	37	chr1	161518311	161518311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagcgtcaatgaagtaGctcgaggcctggcttgagat	9	9	15	8	2	1	2	1	2	0	1	2	4	1	2	1	3	2	4	1	3	3	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:161518311G>T	ENST00000367969.3	-	3	510	c.327C>A	c.(325-327)agC>agA	p.S109R	FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000540048.1_Missense_Mutation_p.S73R|FCGR3A_ENST00000443193.1_Missense_Mutation_p.S108R|FCGR3A_ENST00000436743.1_Missense_Mutation_p.S73R	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	73	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAATGAAGTAGCTCGAGGCCT	0.552													62	249					3.57465e-26	1.78008e-25	1	0	T	161518311	G	T	161518311	3	4	104	1	0	0	0	0	1	0	0	0	5829	962	34	4	557	4	FCGR3A	1	161518311	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	8199664	161518311	87732310	10	19853											
ATF6	22926	broad.mit.edu	37	chr1	161736177	161736177	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccggctggggttgccggCaccatggagtcaccttttag	6	9	15	11	2	1	0	1	0	0	0	1	2	1	1	4	5	2	3	4	5	1	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:161736177C>A	ENST00000367942.3	+	1	94	c.27C>A	c.(25-27)ggC>ggA	p.G9G		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	9	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GGGTTGCCGGCACCATGGAGT	0.582													11	52					3.07112e-06	1.19127e-05	1	0	A	161736177	C	A	161736177	2	1	104	1	0	0	0	0	0	0	0	1	1088	697	25	4		4	ATF6	1	161736177	Silent	SNP	C	TCGA-CN-6988-01A-11D-1912-08	217866	161736177	87514444	11	19854											
NME7	29922	broad.mit.edu	37	chr1	169138773	169138773	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctctgagagttccagggCgtaaatgccgggcaatttcc	8	11	12	10	2	1	1	0	1	1	1	3	2	3	1	3	2	2	4	3	2	3	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:169138773C>A	ENST00000367811.3	-	11	1266	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	NME7_ENST00000472647.1_Missense_Mutation_p.R301L	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	337					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AGTTCCAGGGCGTAAATGCCG	0.363													44	164					8.00217e-19	3.78051e-18	1	0	A	169138773	C	A	169138773	3	1	104	1	0	0	0	0	1	0	0	0	10566	768	27	3	128	3	NME7	1	169138773	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	7402596	169138773	80111848	12	19855											
RC3H1	149041	broad.mit.edu	37	chr1	173952661	173952661	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctctgtaactgttcgttCacctaaagatcgagctgccc	9	11	9	12	2	2	1	1	0	1	1	4	3	2	1	2	0	4	5	2	0	3	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:173952661C>A	ENST00000367696.2	-	4	838	c.487G>T	c.(487-489)Gaa>Taa	p.E163*	RC3H1_ENST00000367694.2_Nonsense_Mutation_p.E163*|RC3H1_ENST00000258349.4_Nonsense_Mutation_p.E163*			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	163					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ACTGTTCGTTCACCTAAAGAT	0.512													35	40					2.42023e-17	1.12183e-16	1	0	A	173952661	C	A	173952661	4	1	104	1	0	0	0	0	0	1	0	0	13248	835	29	2	2982	2	RC3H1	1	173952661	Nonsense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	4813888	173952661	75297960	13	19856											
CR1	1378	broad.mit.edu	37	chr1	207751508	207751508	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccgtgtgaagtgccaggcCctgaacaaatgggagccaga	11	5	14	11	2	0	3	0	2	0	1	0	4	0	4	4	2	3	0	4	2	3	0			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:207751508C>A	ENST00000367049.4	+	29	4896	c.4896C>A	c.(4894-4896)gcC>gcA	p.A1632A	CR1_ENST00000367052.1_Silent_p.A1182A|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Silent_p.A1182A|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.A1182A|CR1_ENST00000367053.1_Silent_p.A1182A	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1182	Sushi 25.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGTGCCAGGCCCTGAACAAAT	0.512													31	79					4.92203e-23	2.41836e-22	1	0	A	207751508	C	A	207751508	2	1	104	1	0	0	0	0	0	0	0	1	3870	610	22	4		4	CR1	1	207751508	Silent	SNP	C	TCGA-CN-6988-01A-11D-1912-08	33798847	207751508	41499113	14	19857											
PROX1	5629	broad.mit.edu	37	chr1	214184944	214184944	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacattcagatggagaagtaCgcacgtcaagccatcaacga	15	7	9	10	3	3	2	3	0	0	2	3	4	3	2	1	1	4	2	1	1	5	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:214184944C>G	ENST00000366958.4	+	4	2522	c.1914C>G	c.(1912-1914)taC>taG	p.Y638*	PROX1_ENST00000498508.2_Nonsense_Mutation_p.Y638*|PROX1_ENST00000261454.4_Nonsense_Mutation_p.Y638*|PROX1_ENST00000435016.1_Nonsense_Mutation_p.Y638*	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	638	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TGGAGAAGTACGCACGTCAAG	0.423													44	23					0	0	0	0	G	214184944	C	G	214184944	4	3	104	1	0	0	0	0	0	1	0	0	12640	547	19	3	1924	3	PROX1	1	214184944	Nonsense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	6433436	214184944	35065677	15	19858											
RYR2	6262	broad.mit.edu	37	chr1	237540685	237540685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcagaaggagaaaaagtaCgagttggagatgacctcatc	16	7	12	6	1	2	4	2	1	0	3	3	8	2	4	1	2	1	2	1	2	4	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:237540685C>G	ENST00000366574.2	+	8	843	c.526C>G	c.(526-528)Cga>Gga	p.R176G	RYR2_ENST00000360064.6_Missense_Mutation_p.R174G|RYR2_ENST00000542537.1_Missense_Mutation_p.R160G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	176	MIR 2.		R -> Q (in ARVD2 and CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAAAAAGTACGAGTTGGAGA	0.443													4	24					0	0	0	0	G	237540685	C	G	237540685	3	3	104	1	0	0	0	0	1	0	0	0	13854	528	19	3	556	3	RYR2	1	237540685	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	23355741	237540685	11709936	16	19859											
TFB2M	64216	broad.mit.edu	37	chr1	246729395	246729395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccagcgcccgccaaggCggagagcctcagccgccgag	8	1	15	17	6	1	1	1	0	0	1	1	4	1	1	6	2	3	0	6	2	1	0	rs143392079	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:246729395C>A	ENST00000366514.4	-	1	231	c.46G>T	c.(46-48)Gcc>Tcc	p.A16S	TFB2M_ENST00000544618.1_Missense_Mutation_p.A16S	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	16					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			CCCGCCAAGGCGGAGAGCCTC	0.602													21	22					1.5548e-18	7.29865e-18	1	0	A	246729395	C	A	246729395	3	1	104	1	0	0	0	0	1	0	0	0	15888	768	27	3	1176	3	TFB2M	1	246729395	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	9188710	246729395	2521226	17	19860											
COLEC11	78989	broad.mit.edu	37	chr2	3691061	3691061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgagtgcagccagctgcGcaaggccatcggggagatgg	9	6	17	9	2	0	2	0	1	0	1	1	3	0	2	2	4	4	3	2	4	1	0			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:3691061G>A	ENST00000403096.3	+	5	769	c.278G>A	c.(277-279)cGc>cAc	p.R93H	COLEC11_ENST00000418971.2_Missense_Mutation_p.R133H|COLEC11_ENST00000404205.1_Missense_Mutation_p.R45H|COLEC11_ENST00000402794.1_Missense_Mutation_p.R69H|COLEC11_ENST00000402922.1_Missense_Mutation_p.R69H|COLEC11_ENST00000382062.2_Missense_Mutation_p.R95H|COLEC11_ENST00000349077.4_Missense_Mutation_p.R119H|COLEC11_ENST00000236693.7_Missense_Mutation_p.R116H|COLEC11_ENST00000487365.1_3'UTR	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	119	Collagen-like.					collagen	mannose binding	p.R133H(1)|p.R116H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		AGCCAGCTGCGCAAGGCCATC	0.637													34	56					0	0	0	0	A	3691061	G	A	3691061	3	1	104	1	0	0	0	0	1	0	0	0	3741	1087	38	1	457	1	COLEC11	2	3691061	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08		3691061	239508312	18	19861											
CYP1B1	1545	broad.mit.edu	37	chr2	38301665	38301665	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggcgtccatcatgtcgcgGggggcggccccgggccgaag	6	4	18	13	6	1	0	1	0	0	0	3	1	2	0	4	6	0	0	4	6	2	0			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:38301665G>A	ENST00000260630.3	-	2	1268	c.867C>T	c.(865-867)ccC>ccT	p.P289P	CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Silent_p.P289P	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	289					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	TCATGTcgcggggggcggccc	0.622													19	9					0	0	0	0	A	38301665	G	A	38301665	2	1	104	1	0	0	0	0	0	0	0	1	4183	1219	43	4		4	CYP1B1	2	38301665	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08	34610604	38301665	204897708	19	19862											
DCTN1	1639	broad.mit.edu	37	chr2	74607154	74607154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtacacgtgcctcttgCtctgtgccatgttgctcacc	4	13	10	14	1	3	0	1	0	2	0	3	0	3	0	3	1	5	5	3	1	1	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:74607154C>A	ENST00000361874.3	-	1	328	c.11G>T	c.(10-12)aGc>aTc	p.S4I	DCTN1_ENST00000409868.1_Intron|DCTN1_ENST00000409567.3_Missense_Mutation_p.S4I|DCTN1_ENST00000409240.1_Intron|DCTN1_ENST00000394003.3_Missense_Mutation_p.S4I	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	4					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTGCCTCTTGCTCTGTGCCAT	0.627													24	14					3.28513e-13	1.44978e-12	1	0	A	74607154	C	A	74607154	3	1	104	1	0	0	0	0	1	0	0	0	4338	797	28	4	3965	4	DCTN1	2	74607154	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	36305489	74607154	168592219	20	19863											
LRRTM4	80059	broad.mit.edu	37	chr2	77745732	77745732	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcaataattttgtgaaaTgaaacatgctcatactcttg	13	13	7	8	1	2	2	1	2	1	0	2	2	2	2	1	1	3	2	1	1	5	5			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:77745732T>C	ENST00000409088.3	-	3	1677	c.1263A>G	c.(1261-1263)tcA>tcG	p.S421S	LRRTM4_ENST00000409911.1_Silent_p.S422S|LRRTM4_ENST00000409093.1_Silent_p.S421S|LRRTM4_ENST00000409884.1_Silent_p.S421S|LRRTM4_ENST00000409282.1_Silent_p.S422S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	421						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTTTGTGAAATGAAACATGCT	0.493													45	83					0	0	0	0	C	77745732	T	C	77745732	2	2	104	1	0	0	0	0	0	0	0	1	9106	1451	51	5		5	LRRTM4	2	77745732	Silent	SNP	T	TCGA-CN-6988-01A-11D-1912-08	3138578	77745732	165453641	21	19864											
LRRTM4	80059	broad.mit.edu	37	chr2	77746588	77746588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaggagaggtccagattgCggagattgggaactgggtga	10	9	18	4	1	0	4	0	1	0	3	1	7	1	5	1	5	2	1	1	5	2	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:77746588C>T	ENST00000409088.3	-	3	821	c.407G>A	c.(406-408)cGc>cAc	p.R136H	LRRTM4_ENST00000409911.1_Missense_Mutation_p.R137H|LRRTM4_ENST00000409093.1_Missense_Mutation_p.R136H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R136H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R137H	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	136						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTCCAGATTGCGGAGATTGGG	0.383													48	43					0	0	0	0	T	77746588	C	T	77746588	3	4	104	1	0	0	0	0	1	0	0	0	9106	768	27	1	1379	1	LRRTM4	2	77746588	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	856	77746588	165452785	22	19865											
REG1B	5968	broad.mit.edu	37	chr2	79313964	79313964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaacccaggtctcagggtCttcattaaagtagtagcagt	12	11	9	9	0	4	0	3	0	2	0	5	0	4	0	1	2	2	3	1	2	5	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:79313964C>T	ENST00000305089.3	-	3	237	c.157G>A	c.(157-159)Gac>Aac	p.D53N		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	53	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GTCTCAGGGTCTTCATTAAAG	0.537													29	184					0	0	0	0	T	79313964	C	T	79313964	3	4	104	1	0	0	0	0	1	0	0	0	13293	913	32	2	359	2	REG1B	2	79313964	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	1567376	79313964	163885409	23	19866											
NPAS2	4862	broad.mit.edu	37	chr2	101607326	101607326	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagtcagcaggacgggacgGcaagtcaagtacgtggaccc	12	4	15	10	3	2	0	2	0	0	0	2	4	2	3	1	4	2	3	1	4	4	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:101607326G>A	ENST00000335681.5	+	19	2388	c.2103G>A	c.(2101-2103)cgG>cgA	p.R701R	NPAS2_ENST00000542504.1_Silent_p.R766R	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	701					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGACGGGACGGCAAGTCAAGT	0.647													38	12					0	0	0	0	A	101607326	G	A	101607326	2	1	104	1	0	0	0	0	0	0	0	1	10633	1190	42	4		4	NPAS2	2	101607326	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08	22293362	101607326	141592047	24	19867											
POTEF	728378	broad.mit.edu	37	chr2	130872899	130872899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggccagatgtagagcaGtcctatgagagtgagaagac	14	6	14	7	0	0	6	0	2	0	6	1	8	1	6	2	1	1	2	2	1	3	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:130872899G>T	ENST00000357462.5	-	2	617	c.524C>A	c.(523-525)aCt>aAt	p.T175N	POTEF_ENST00000360967.5_Missense_Mutation_p.T175N|POTEF_ENST00000409914.2_Missense_Mutation_p.T175N|POTEF_ENST00000361163.4_Missense_Mutation_p.T175N			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	175						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATGTAGAGCAGTCCTATGAGA	0.418													30	96					4.42602e-33	2.23423e-32	1	0	T	130872899	G	T	130872899	3	4	104	1	0	0	0	0	1	0	0	0	12337	1029	36	4	2759	4	POTEF	2	130872899	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	29265573	130872899	112326474	25	19868											
ZEB2	9839	broad.mit.edu	37	chr2	145147514	145147514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	actgatagggcttctcgcccGagtgaagccttgagtgctcg	7	10	13	11	3	1	3	0	3	1	0	3	4	1	3	2	1	2	2	2	1	2	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:145147514G>C	ENST00000558170.2	-	10	4333	c.3149C>G	c.(3148-3150)tCg>tGg	p.S1050W	ZEB2_ENST00000539609.3_Missense_Mutation_p.S1026W|ZEB2_ENST00000409487.3_Missense_Mutation_p.S1050W|ZEB2_ENST00000303660.4_Missense_Mutation_p.S1050W	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1050						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTTCTCGCCCGAGTGAAGCCT	0.483													5	60					0	0	0	0	C	145147514	G	C	145147514	3	2	104	1	0	0	0	0	1	0	0	0	17719	1059	37	3	499	3	ZEB2	2	145147514	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	14274615	145147514	98051859	26	19869											
TTN	7273	broad.mit.edu	37	chr2	179532239	179532239	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctggaacaactttcttGggtggctcaggcacttaaaa	10	13	9	9	0	4	0	1	0	3	0	4	1	4	1	0	4	2	2	0	4	4	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:179532239G>C	ENST00000589042.1	-	161	35867	c.35643C>G	c.(35641-35643)ccC>ccG	p.P11881P	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10020	Glu-rich.|Pro-rich.						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)			CAACTTTCTTGGGTGGCTCAG	0.308													13	13					0	0	0	0	C	179532239	G	C	179532239	2	2	104	1	0	0	0	0	0	0	0	1	16831	1363	47	4		4	TTN	2	179532239	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08	34384725	179532239	63667134	27	19870											
TTN	7273	broad.mit.edu	37	chr2	179664292	179664292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgatggggactgctgcCgagccagctgtgctttggca	5	9	17	10	2	0	0	0	0	0	0	0	3	0	1	2	4	5	4	2	4	0	1	rs151174349		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:179664292C>T	ENST00000589042.1	-	6	1060	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	TTN_ENST00000591111.1_Missense_Mutation_p.R279Q|TTN_ENST00000359218.5_Missense_Mutation_p.R279Q|TTN_ENST00000360870.5_Missense_Mutation_p.R279Q|TTN_ENST00000342992.6_Missense_Mutation_p.R279Q|TTN_ENST00000460472.2_Missense_Mutation_p.R279Q|TTN_ENST00000342175.6_Missense_Mutation_p.R279Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	279	ZIS1.		R -> W (in HMERF; disrupts NBR1-binding).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R279L(6)		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)			GGACTGCTGCCGAGCCAGCTG	0.592													15	44					0	0	0	0	T	179664292	C	T	179664292	3	4	104	1	0	0	0	0	1	0	0	0	16831	652	23	1	110580	1	TTN	2	179664292	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	132053	179664292	63535081	28	19871											
FRZB	2487	broad.mit.edu	37	chr2	183699618	183699618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgagttcctgccagacttCtgactctgagtggaatcact	8	13	9	11	1	3	3	1	2	2	1	5	5	4	4	2	1	1	1	2	1	1	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:183699618C>A	ENST00000295113.4	-	6	1545	c.936G>T	c.(934-936)caG>caT	p.Q312H		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	312	Ser-rich.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGCCAGACTTCTGACTCTGAG	0.413													34	25					1.21669e-08	5.15346e-08	1	0	A	183699618	C	A	183699618	3	1	104	1	0	0	0	0	1	0	0	0	6113	912	32	2	45	2	FRZB	2	183699618	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	4035326	183699618	59499755	29	19872											
AOX1	316	broad.mit.edu	37	chr2	201460091	201460091	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccatcaccaagaggataaGgtaccgtgcagcaaagtcca	14	5	9	13	1	1	1	1	0	0	1	2	2	2	2	5	2	3	3	5	2	4	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:201460091G>A	ENST00000374700.2	+	3	441	c.200_splice	c.e3+1	p.R67_splice		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	67	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AAGAGGATAAGGTACCGTGCA	0.403													18	16					0	0	0	0	A	201460091	G	A	201460091	5	1	104	1	0	0	0	0	0	0	1	0	730	1014	35	4	210	4	AOX1	2	201460091	Splice_Site	SNP	G	TCGA-CN-6988-01A-11D-1912-08	17760473	201460091	41739282	30	19873											
ERBB4	2066	broad.mit.edu	37	chr2	212251600	212251600	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttgggtttgtctcgcatAggagtcatgtaaccttcctc	6	16	10	9	1	2	0	1	0	1	0	5	1	3	1	2	2	1	4	2	2	2	5			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:212251600A>C	ENST00000342788.4	-	27	3769	c.3459T>G	c.(3457-3459)ccT>ccG	p.P1153P	ERBB4_ENST00000402597.1_Silent_p.P1143P|ERBB4_ENST00000436443.1_Silent_p.P1137P	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1153					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGTCTCGCATAGGAGTCATGT	0.468										TSP Lung(8;0.080)			35	28					0	0	0	0	C	212251600	A	C	212251600	2	2	104	1	0	0	0	0	0	0	0	1	5247	407	15	5		5	ERBB4	2	212251600	Silent	SNP	A	TCGA-CN-6988-01A-11D-1912-08	10791509	212251600	30947773	31	19874											
ERBB4	2066	broad.mit.edu	37	chr2	212543814	212543814	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactctatgcagatccttcCtctactgaagcggcgacacg	10	9	9	13	3	2	3	0	1	2	2	4	4	4	3	2	1	3	1	2	1	3	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:212543814C>A	ENST00000342788.4	-	13	1895	c.1585G>T	c.(1585-1587)Gga>Tga	p.G529*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.G529*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.G529*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	529	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGATCCTTCCTCTACTGAAG	0.498										TSP Lung(8;0.080)			8	22					0.000157383	0.000591793	1	0	A	212543814	C	A	212543814	4	1	104	1	0	0	0	0	0	1	0	0	5247	690	24	4	2405	4	ERBB4	2	212543814	Nonsense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	292214	212543814	30655559	32	19875											
STK36	27148	broad.mit.edu	37	chr2	219553529	219553529	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgtattccttctgccGggaggcagggcttcctgggc	3	12	14	12	1	1	0	0	0	1	0	3	1	3	1	4	4	2	3	4	4	1	5	rs150496187	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:219553529G>C	ENST00000295709.3	+	12	1769	c.1490G>C	c.(1489-1491)cGg>cCg	p.R497P	STK36_ENST00000440309.1_Missense_Mutation_p.R497P|STK36_ENST00000392105.3_Missense_Mutation_p.R497P|STK36_ENST00000392106.2_Missense_Mutation_p.R497P	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	497					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TCCTTCTGCCGGGAGGCAGGG	0.587													41	31					0	0	0	0	C	219553529	G	C	219553529	3	2	104	1	0	0	0	0	1	0	0	0	15392	1116	39	3	1532	3	STK36	2	219553529	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	7009715	219553529	23645844	33	19876											
SH3BP4	23677	broad.mit.edu	37	chr2	235950335	235950335	+	Missense_Mutation	SNP	G	G	T																															acttgcttggccaaagccctGgttggggccagacccaagcc																										TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:235950335G>T	ENST00000409212.1	+	4	1429	c.922G>T	c.(922-924)Ggt>Tgt	p.G308C	SH3BP4_ENST00000392011.2_Missense_Mutation_p.G308C|SH3BP4_ENST00000344528.4_Missense_Mutation_p.G308C			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	308					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCAAAGCCCTGGTTGGGGCCA	0.592													19	47					4.63292e-17	2.13404e-16	1	0	T	235950335	G	T	235950335	3	4	104	1	0	0	0	0	1	0	0	0	14333	1348	47	4	928	4	SH3BP4	2	235950335	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	16396806	235950335	7249038	34	19877	161	2									
SH3BP4	23677	broad.mit.edu	37	chr2	235950336	235950336	+	Missense_Mutation	SNP	G	G	T																															cttgcttggccaaagccctgGttggggccagacccaagccg																										TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:235950336G>T	ENST00000409212.1	+	4	1430	c.923G>T	c.(922-924)gGt>gTt	p.G308V	SH3BP4_ENST00000392011.2_Missense_Mutation_p.G308V|SH3BP4_ENST00000344528.4_Missense_Mutation_p.G308V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	308					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAAAGCCCTGGTTGGGGCCAG	0.592													19	47					7.21436e-19	3.43031e-18	1	0	T	235950336	G	T	235950336	3	4	104	1	0	0	0	0	1	0	0	0	14333	1261	44	4	929	4	SH3BP4	2	235950336	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	1	235950336	7249037	35	19878	161	2									
SCN10A	6336	broad.mit.edu	37	chr3	38835351	38835351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagtccagctggggccgagGcttctcttcttggtccttct	4	13	11	13	1	3	0	0	0	3	0	6	1	5	0	3	4	1	2	3	4	1	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:38835351G>A	ENST00000449082.2	-	1	150	c.151C>T	c.(151-153)Cct>Tct	p.P51S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	51					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGGGCCGAGGCTTCTCTTCT	0.552													55	18					0	0	0	0	A	38835351	G	A	38835351	3	1	104	1	0	0	0	0	1	0	0	0	13999	1203	42	4	5827	4	SCN10A	3	38835351	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08		38835351	159187079	36	19879											
ZNF502	91392	broad.mit.edu	37	chr3	44763729	44763729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtgggaaagcctttgctCatagctcatctcttactgaa	11	13	8	9	0	3	1	2	1	1	0	4	2	3	2	1	1	4	2	1	1	5	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:44763729C>T	ENST00000296091.4	+	4	1676	c.1420C>T	c.(1420-1422)Cat>Tat	p.H474Y	ZNF502_ENST00000449836.1_Missense_Mutation_p.H474Y|ZNF502_ENST00000436624.2_Missense_Mutation_p.H474Y	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		AGCCTTTGCTCATAGCTCATC	0.418													12	19					0	0	0	0	T	44763729	C	T	44763729	3	4	104	1	0	0	0	0	1	0	0	0	18045	826	29	2	1426	2	ZNF502	3	44763729	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	5928378	44763729	153258701	37	19880											
MYH15	22989	broad.mit.edu	37	chr3	108211382	108211382	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagatagaatttgatagAatatgtggtagttcctctct	11	15	9	6	0	1	4	0	1	1	3	4	4	3	4	2	1	0	2	2	1	6	6			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:108211382A>T	ENST00000273353.3	-	10	952	c.896T>A	c.(895-897)tTc>tAc	p.F299Y		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	299	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AATTTGATAGAATATGTGGTA	0.373													7	20					0	0	0	0	T	108211382	A	T	108211382	3	4	104	1	0	0	0	0	1	0	0	0	10104	246	9	5	5076	5	MYH15	3	108211382	Missense_Mutation	SNP	A	TCGA-CN-6988-01A-11D-1912-08	63447653	108211382	89811048	38	19881											
PLOD2	5352	broad.mit.edu	37	chr3	145790383	145790383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaccatttgccgtaatgttCcatttcttctaccaattcat	10	16	4	11	1	3	1	1	0	2	1	4	1	4	1	4	0	2	2	4	0	3	7			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:145790383C>T	ENST00000282903.5	-	17	1990	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.E265K|PLOD2_ENST00000494950.1_Missense_Mutation_p.E550K|PLOD2_ENST00000360060.3_Missense_Mutation_p.E584K	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	584					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CCGTAATGTTCCATTTCTTCT	0.368													14	53					0	0	0	0	T	145790383	C	T	145790383	3	4	104	1	0	0	0	0	1	0	0	0	12174	864	30	2	479	2	PLOD2	3	145790383	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	37579001	145790383	52232047	39	19882											
SI	6476	broad.mit.edu	37	chr3	164732915	164732915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatcgatttagtacctttGcccaacaaatgtcattggtg	11	14	8	8	1	1	0	1	0	0	0	2	2	1	0	2	1	3	1	2	1	5	6			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:164732915G>A	ENST00000264382.3	-	33	4057	c.3995C>T	c.(3994-3996)gCa>gTa	p.A1332V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1332	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAGTACCTTTGCCCAACAAAT	0.323										HNSCC(35;0.089)			12	31					0	0	0	0	A	164732915	G	A	164732915	3	1	104	1	0	0	0	0	1	0	0	0	14385	1319	46	4	1552	4	SI	3	164732915	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	18942532	164732915	33289515	40	19883											
TNIK	23043	broad.mit.edu	37	chr3	170784416	170784416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccacatccttagttatccGgccataggtgtttacataca	11	12	6	12	1	0	0	0	0	0	0	2	0	2	0	4	2	2	2	4	2	5	6			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:170784416G>A	ENST00000436636.2	-	31	4152	c.3808C>T	c.(3808-3810)Cgg>Tgg	p.R1270W	TNIK_ENST00000475336.1_Missense_Mutation_p.R1178W|TNIK_ENST00000460047.1_Missense_Mutation_p.R1207W|TNIK_ENST00000357327.5_Missense_Mutation_p.R1241W|TNIK_ENST00000538048.1_Missense_Mutation_p.R1222W|TNIK_ENST00000284483.8_Missense_Mutation_p.R1262W|TNIK_ENST00000488470.1_Missense_Mutation_p.R1215W|TNIK_ENST00000470834.1_Missense_Mutation_p.R1233W|TNIK_ENST00000369326.5_Missense_Mutation_p.R1248W|TNIK_ENST00000341852.6_Missense_Mutation_p.R1186W	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1270	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTAGTTATCCGGCCATAGGTG	0.458													11	99					0	0	0	0	A	170784416	G	A	170784416	3	1	104	1	0	0	0	0	1	0	0	0	16407	1115	39	1	286	1	TNIK	3	170784416	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	6051501	170784416	27238014	41	19884											
NLGN1	22871	broad.mit.edu	37	chr3	173322785	173322785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagaagtcatgcttcctGtgtggtttactaataacttg	9	15	9	8	0	1	1	1	0	0	1	2	1	2	1	2	1	4	2	2	1	4	6			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:173322785G>T	ENST00000457714.1	+	3	826	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L	NLGN1_ENST00000401917.3_Missense_Mutation_p.V133L|NLGN1_ENST00000545397.1_Missense_Mutation_p.V133L|NLGN1_ENST00000361589.4_Missense_Mutation_p.V133L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	133					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CATGCTTCCTGTGTGGTTTAC	0.433													144	73					3.38734e-80	1.74578e-79	1	0	T	173322785	G	T	173322785	3	4	104	1	0	0	0	0	1	0	0	0	10531	1377	48	4	399	4	NLGN1	3	173322785	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	2538369	173322785	24699645	42	19885											
NAALADL2	254827	broad.mit.edu	37	chr3	174814816	174814816	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaccagcaacttcacccAaaggaaggttccagagactt	14	8	7	12	0	2	1	2	0	0	1	3	3	3	2	3	2	3	2	3	2	4	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:174814816A>G	ENST00000454872.1	+	2	408	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	94					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AACTTCACCCAAAGGAAGGTT	0.433													11	70					0	0	0	0	G	174814816	A	G	174814816	3	3	104	1	0	0	0	0	1	0	0	0	10200	131	5	5	286	5	NAALADL2	3	174814816	Missense_Mutation	SNP	A	TCGA-CN-6988-01A-11D-1912-08	1492031	174814816	23207614	43	19886											
ECE2	9718	broad.mit.edu	37	chr3	184002873	184002873	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagcaggtgtcagagctCatcaaccgcacggaaccaag	12	6	11	12	2	3	1	3	0	0	1	3	2	3	2	2	2	5	4	2	2	3	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:184002873C>A	ENST00000402825.3	+	9	1482	c.1482C>A	c.(1480-1482)ctC>ctA	p.L494L	ECE2_ENST00000404464.3_Silent_p.L376L|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Silent_p.L422L|ECE2_ENST00000359140.4_Silent_p.L347L	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	494	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTCAGAGCTCATCAACCGCA	0.562											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	125					1.9806e-07	8.02033e-07	1	0	A	184002873	C	A	184002873	2	1	104	1	0	0	0	0	0	0	0	1	4926	813	29	2		2	ECE2	3	184002873	Silent	SNP	C	TCGA-CN-6988-01A-11D-1912-08	9188057	184002873	14019557	44	19887											
CYTL1	54360	broad.mit.edu	37	chr4	5016894	5016894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccttagcgctgacgatctGgcaggaccgtagtcactggg	7	9	13	12	3	2	1	1	1	1	0	3	3	3	2	2	3	1	3	2	3	2	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:5016894G>A	ENST00000307746.4	-	4	421	c.395C>T	c.(394-396)cCa>cTa	p.P132L		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	132					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CTGACGATCTGGCAGGACCGT	0.483													4	28					0	0	0	0	A	5016894	G	A	5016894	3	1	104	1	0	0	0	0	1	0	0	0	4240	1348	47	4	19	4	CYTL1	4	5016894	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08		5016894	186137382	45	19888											
LPHN3	23284	broad.mit.edu	37	chr4	62812754	62812754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attctgttattgtcaattccCctgttattacggcagcaata	10	16	6	9	1	2	0	1	0	1	0	3	0	3	0	2	1	2	4	2	1	6	7			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:62812754C>G	ENST00000512091.1	+	15	3085	c.2338C>G	c.(2338-2340)Cct>Gct	p.P780A	LPHN3_ENST00000506720.1_Missense_Mutation_p.P848A|LPHN3_ENST00000508946.1_Missense_Mutation_p.P780A|LPHN3_ENST00000509896.1_Missense_Mutation_p.P848A|LPHN3_ENST00000514157.1_Missense_Mutation_p.P780A|LPHN3_ENST00000514996.1_Missense_Mutation_p.P780A|LPHN3_ENST00000504896.1_Missense_Mutation_p.P780A|LPHN3_ENST00000506746.1_Missense_Mutation_p.P848A|LPHN3_ENST00000507625.1_Missense_Mutation_p.P848A|LPHN3_ENST00000506700.1_Missense_Mutation_p.P780A|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000507164.1_Missense_Mutation_p.P848A|LPHN3_ENST00000545650.1_Missense_Mutation_p.P780A|LPHN3_ENST00000514591.1_Missense_Mutation_p.P780A|LPHN3_ENST00000508693.1_Missense_Mutation_p.P848A|LPHN3_ENST00000511324.1_Missense_Mutation_p.P848A			Q9HAR2	LPHN3_HUMAN	latrophilin 3	767					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTCAATTCCCCTGTTATTAC	0.383													33	121					0	0	0	0	G	62812754	C	G	62812754	3	3	104	1	0	0	0	0	1	0	0	0	8981	623	22	4	2388	4	LPHN3	4	62812754	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	57795860	62812754	128341522	46	19889											
UGT2B28	54490	broad.mit.edu	37	chr4	70156309	70156309	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaattcatccaatcctaGgtcttccaaaaaccagagct	15	10	4	12	0	2	1	1	0	1	1	5	1	5	1	4	1	2	1	4	1	6	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:70156309G>A	ENST00000335568.5	+	5	1092		c.e5-1		UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28						xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TCCAATCCTAGGTCTTCCAAA	0.368													29	59					0	0	0	0	A	70156309	G	A	70156309	5	1	104	1	0	0	0	0	0	0	1	0	17056	1014	35	4	1108	4	UGT2B28	4	70156309	Splice_Site	SNP	G	TCGA-CN-6988-01A-11D-1912-08	7343555	70156309	120997967	47	19890											
CSN2	1447	broad.mit.edu	37	chr4	70823387	70823387	+	Missense_Mutation	SNP	G	G	T																															ttccattatttcaggctgagGgacaggcagcaccacagcag																										TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:70823387G>T	ENST00000353151.3	-	5	291	c.280C>A	c.(280-282)Cct>Act	p.P94T		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	94					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TCAGGCTGAGGGACAGGCAGC	0.473													13	63					1.36491e-13	6.05988e-13	1	0	T	70823387	G	T	70823387	3	4	104	1	0	0	0	0	1	0	0	0	3980	1232	43	4	408	4	CSN2	4	70823387	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	667078	70823387	120330889	48	19891	162	2									
CSN2	1447	broad.mit.edu	37	chr4	70823388	70823388	+	Silent	SNP	G	G	T																															tccattatttcaggctgaggGacaggcagcaccacagcagg																										TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:70823388G>T	ENST00000353151.3	-	5	290	c.279C>A	c.(277-279)gtC>gtA	p.V93V		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	93					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						CAGGCTGAGGGACAGGCAGCA	0.473													13	62					1.36491e-13	6.05988e-13	1	0	T	70823388	G	T	70823388	2	4	104	1	0	0	0	0	0	0	0	1	3980	1161	41	2		2	CSN2	4	70823388	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08	1	70823388	120330888	49	19892	162	2									
GRID2	2895	broad.mit.edu	37	chr4	94032099	94032099	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacagccaaatccttcattActgaggtaagtgaaaattgt	14	12	7	8	0	1	2	1	2	0	0	2	2	2	2	2	1	3	1	2	1	6	5			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:94032099A>T	ENST00000282020.4	+	4	988	c.730A>T	c.(730-732)Act>Tct	p.T244S	GRID2_ENST00000510992.1_Missense_Mutation_p.T149S|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	244					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATCCTTCATTACTGAGGTAAG	0.408													27	34					0	0	0	0	T	94032099	A	T	94032099	3	4	104	1	0	0	0	0	1	0	0	0	6822	391	14	5	744	5	GRID2	4	94032099	Missense_Mutation	SNP	A	TCGA-CN-6988-01A-11D-1912-08	23208711	94032099	97122177	50	19893											
UNC5C	8633	broad.mit.edu	37	chr4	96124103	96124103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgaagttttcctccccgaCcaccaccacatcctggggga	8	8	10	15	1	0	1	0	1	0	0	3	3	3	2	7	3	0	1	7	3	1	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:96124103C>A	ENST00000453304.1	-	12	2263	c.1915G>T	c.(1915-1917)Gtc>Ttc	p.V639F		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	639					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCTCCCCGACCACCACCACA	0.602													20	16					0.000132079	0.000501764	1	0	A	96124103	C	A	96124103	3	1	104	1	0	0	0	0	1	0	0	0	17089	507	18	4	900	4	UNC5C	4	96124103	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	2092004	96124103	95030173	51	19894											
ANK2	287	broad.mit.edu	37	chr4	114277887	114277887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcatggactccaattccagtCcagaagaagtacaattccag	14	8	8	11	0	0	2	0	0	0	2	4	3	4	3	4	1	1	2	4	1	5	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:114277887C>T	ENST00000357077.4	+	38	8166	c.8113C>T	c.(8113-8115)Cca>Tca	p.P2705S	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2672S|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2672					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAATTCCAGTCCAGAAGAAGT	0.423													47	40					0	0	0	0	T	114277887	C	T	114277887	3	4	104	1	0	0	0	0	1	0	0	0	621	855	30	2	8328	2	ANK2	4	114277887	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	18153784	114277887	76876389	52	19895											
SYNPO2	171024	broad.mit.edu	37	chr4	119952081	119952081	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcactccttcaaaattcAgaaggcaaacggggcactgg	12	9	10	10	1	3	1	3	0	0	1	4	1	4	1	1	4	1	2	1	4	4	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:119952081A>T	ENST00000307142.4	+	4	2347	c.2151A>T	c.(2149-2151)tcA>tcT	p.S717S	SYNPO2_ENST00000434046.2_Silent_p.S717S|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Silent_p.S717S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	717						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTCAAAATTCAGAAGGCAAAC	0.493													14	34					0	0	0	0	T	119952081	A	T	119952081	2	4	104	1	0	0	0	0	0	0	0	1	15548	175	7	5		5	SYNPO2	4	119952081	Silent	SNP	A	TCGA-CN-6988-01A-11D-1912-08	5674194	119952081	71202195	53	19896											
PCDH10	57575	broad.mit.edu	37	chr4	134071332	134071332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtttgccttgctctggatgGtggaaggagtcttttcccag	5	15	13	8	0	2	0	0	0	2	0	3	3	3	3	2	4	2	2	2	4	1	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:134071332G>C	ENST00000264360.4	+	1	863	c.37G>C	c.(37-39)Gtg>Ctg	p.V13L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	13					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCTCTGGATGGTGGAAGGAGT	0.517													28	103					0	0	0	0	C	134071332	G	C	134071332	3	2	104	1	0	0	0	0	1	0	0	0	11578	1261	44	4	39	4	PCDH10	4	134071332	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	14119251	134071332	57082944	54	19897											
STOX2	56977	broad.mit.edu	37	chr4	184931953	184931953	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggagcctgtggggcacaaGgaggagtcaccaaaagggcc	12	3	17	9	0	1	0	1	0	0	0	1	3	1	3	3	6	1	1	3	6	3	0			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:184931953G>A	ENST00000308497.4	+	3	3397	c.1962G>A	c.(1960-1962)aaG>aaA	p.K654K	STOX2_ENST00000438269.1_Silent_p.K654K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	654					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TGGGGCACAAGGAGGAGTCAC	0.637													8	10					0	0	0	0	A	184931953	G	A	184931953	2	1	104	1	0	0	0	0	0	0	0	1	15410	991	35	4		4	STOX2	4	184931953	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08	50860621	184931953	6222323	55	19898											
CDH10	1008	broad.mit.edu	37	chr5	24511543	24511543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctacttcagcatttttccCagtgtcagcatcagttgctt	7	17	6	11	0	4	0	3	0	1	0	5	0	5	0	1	0	4	4	1	0	1	7			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:24511543C>A	ENST00000264463.4	-	6	1402	c.895G>T	c.(895-897)Ggg>Tgg	p.G299W		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	299	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCATTTTTCCCAGTGTCAGCA	0.423										HNSCC(23;0.051)			19	84					9.7654e-05	0.000372907	1	0	A	24511543	C	A	24511543	3	1	104	1	0	0	0	0	1	0	0	0	3125	594	21	4	1499	4	CDH10	5	24511543	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08		24511543	156403717	56	19899											
CDH9	1007	broad.mit.edu	37	chr5	26903856	26903856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttctgcattttcccccaCgtcagggtcattggctttta	6	16	7	12	1	3	0	2	0	1	0	4	0	4	0	2	2	1	2	2	2	1	6			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:26903856C>T	ENST00000231021.4	-	6	1061	c.889G>A	c.(889-891)Gtg>Atg	p.V297M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	297	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTTCCCCCACGTCAGGGTCA	0.413													35	126					0	0	0	0	T	26903856	C	T	26903856	3	4	104	1	0	0	0	0	1	0	0	0	3146	536	19	1	1508	1	CDH9	5	26903856	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	2392313	26903856	154011404	57	19900											
CDH6	1004	broad.mit.edu	37	chr5	31323131	31323131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacattgtgcccgaagccCttttcctaccccgacggact	7	9	10	15	3	0	0	0	0	0	0	1	4	1	2	5	2	3	0	5	2	2	4	rs149310360		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:31323131C>A	ENST00000265071.2	+	12	2354	c.2089C>A	c.(2089-2091)Ctt>Att	p.L697I		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	697					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.L697F(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCCGAAGCCCTTTTCCTACC	0.522													26	41					1.2476e-16	5.6758e-16	1	0	A	31323131	C	A	31323131	3	1	104	1	0	0	0	0	1	0	0	0	3143	681	24	4	2131	4	CDH6	5	31323131	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	4419275	31323131	149592129	58	19901											
NIPBL	25836	broad.mit.edu	37	chr5	37052609	37052609	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttactccatgatccgtggaAaccgccaacacagacgagcc	12	7	8	14	3	0	2	0	1	0	1	2	4	2	3	5	1	4	0	5	1	3	2	rs150935361	by1000genomes	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:37052609A>G	ENST00000282516.8	+	42	7703	c.7204A>G	c.(7204-7206)Aac>Gac	p.N2402D	NIPBL_ENST00000448238.2_Missense_Mutation_p.N2402D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2402					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GATCCGTGGAAACCGCCAACA	0.413													19	47					0	0	0	0	G	37052609	A	G	37052609	3	3	104	1	0	0	0	0	1	0	0	0	10498	14	1	5	7366	5	NIPBL	5	37052609	Missense_Mutation	SNP	A	TCGA-CN-6988-01A-11D-1912-08	5729478	37052609	143862651	59	19902											
ITGA1	3672	broad.mit.edu	37	chr5	52211340	52211340	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactgaaattttttggccAgtctatccacggagaaatgg	12	11	10	8	1	1	2	0	1	1	1	2	4	2	2	2	3	0	0	2	3	3	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:52211340A>T	ENST00000282588.6	+	15	2362	c.1904A>T	c.(1903-1905)cAg>cTg	p.Q635L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	635					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTTTTTGGCCAGTCTATCCAC	0.418													66	19					0	0	0	0	T	52211340	A	T	52211340	3	4	104	1	0	0	0	0	1	0	0	0	7925	188	7	5	1962	5	ITGA1	5	52211340	Missense_Mutation	SNP	A	TCGA-CN-6988-01A-11D-1912-08	15158731	52211340	128703920	60	19903											
RASGRF2	5924	broad.mit.edu	37	chr5	80366391	80366391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatccagacatcaagaaGattaaaaaggtagggcctgg	17	6	12	6	0	1	4	1	0	0	4	2	5	2	4	2	3	0	1	2	3	7	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:80366391G>T	ENST00000265080.4	+	4	691	c.624G>T	c.(622-624)aaG>aaT	p.K208N	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	208	IQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACATCAAGAAGATTAAAAAGG	0.473													14	19					1.5842e-08	6.67175e-08	1	0	T	80366391	G	T	80366391	3	4	104	1	0	0	0	0	1	0	0	0	13155	933	33	2	638	2	RASGRF2	5	80366391	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	28155051	80366391	100548869	61	19904											
MEF2C	4208	broad.mit.edu	37	chr5	88018719	88018719	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagagatttgaactctgaGataaatgagtgctagtgcaa	14	10	13	4	0	1	4	0	3	1	2	1	7	1	5	0	1	3	2	0	1	5	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:88018719G>C	ENST00000504921.2	-	10	1796	c.1124C>G	c.(1123-1125)tCt>tGt	p.S375C	MEF2C_ENST00000514028.1_Missense_Mutation_p.S375C|MEF2C_ENST00000340208.5_Missense_Mutation_p.S385C|MEF2C_ENST00000510942.1_Missense_Mutation_p.S367C|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000424173.2_Missense_Mutation_p.S365C|MEF2C_ENST00000539796.1_Missense_Mutation_p.S319C|MEF2C_ENST00000437473.2_Missense_Mutation_p.S375C|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000514015.1_Intron			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	375	Transcription repressor.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGAACTCTGAGATAAATGAGT	0.478										HNSCC(66;0.2)			5	8					0	0	0	0	C	88018719	G	C	88018719	3	2	104	1	0	0	0	0	1	0	0	0	9526	942	33	2	301	2	MEF2C	5	88018719	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	7652328	88018719	92896541	62	19905											
FER	2241	broad.mit.edu	37	chr5	108523253	108523253	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacttcagaaagagctcactAtcatcaagagaaaactcaca	19	7	5	10	0	5	3	5	0	0	3	5	4	5	3	0	0	3	1	0	0	6	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:108523253A>G	ENST00000281092.4	+	20	2830	c.2446A>G	c.(2446-2448)Atc>Gtc	p.I816V	FER_ENST00000438717.2_Missense_Mutation_p.I641V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	816	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGAGCTCACTATCATCAAGAG	0.418													17	6					0	0	0	0	G	108523253	A	G	108523253	3	3	104	1	0	0	0	0	1	0	0	0	5858	449	16	5	2516	5	FER	5	108523253	Missense_Mutation	SNP	A	TCGA-CN-6988-01A-11D-1912-08	20504534	108523253	72392007	63	19906											
TRIM36	55521	broad.mit.edu	37	chr5	114506852	114506852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttgggagaagtctgtcGctgtggcaagttccgtcgtc	5	13	14	9	3	1	1	0	0	1	1	5	2	2	1	1	2	0	4	1	2	2	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:114506852G>A	ENST00000379618.2	-	2	639	c.131C>T	c.(130-132)gCg>gTg	p.A44V	TRIM36_ENST00000282369.3_Intron|TRIM36_ENST00000514154.1_Intron	NM_001017397.1	NP_001017397.1	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	559						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GAAGTCTGTCGCTGTGGCAAG	0.468													59	20					0	0	0	0	A	114506852	G	A	114506852	3	1	104	1	0	0	0	0	1	0	0	0	16605	1087	38	1	2215	1	TRIM36	5	114506852	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	5983599	114506852	66408408	64	19907											
ZNF608	57507	broad.mit.edu	37	chr5	124080436	124080436	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacagaagcaaattttaGgccatcagctaaggctgcgg	13	8	11	9	1	1	2	1	1	0	1	1	2	1	2	1	3	4	3	1	3	5	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:124080436G>C	ENST00000306315.5	-	1	682	c.247C>G	c.(247-249)Cta>Gta	p.L83V		NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	83						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCAAATTTTAGGCCATCAGCT	0.493													18	18					0	0	0	0	C	124080436	G	C	124080436	3	2	104	1	0	0	0	0	1	0	0	0	18129	991	35	4	4327	4	ZNF608	5	124080436	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	9573584	124080436	56834824	65	19908											
PCDHB16	57717	broad.mit.edu	37	chr5	140563721	140563721	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccctgcgggagttcgagttCcgcgtgagcgccacagaccg	6	6	15	14	6	0	2	0	1	0	1	2	4	1	3	4	1	2	2	4	1	0	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:140563721C>T	ENST00000361016.2	+	1	2742	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		529	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTCGAGTTCCGCGTGAGCG	0.682													62	13					0	0	0	0	T	140563721	C	T	140563721	2	4	104	1	0	0	0	0	0	0	0	1	11612	854	30	2		2	PCDHB16	5	140563721	Silent	SNP	C	TCGA-CN-6988-01A-11D-1912-08	16483285	140563721	40351539	66	19909											
DOCK2	1794	broad.mit.edu	37	chr5	169446055	169446055	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagctccggaaagccaccatAccaatcttcttcgacatgat	12	9	7	13	2	2	1	0	1	2	0	4	4	3	2	4	1	3	1	4	1	3	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:169446055A>G	ENST00000256935.8	+	33	3404	c.3324A>G	c.(3322-3324)atA>atG	p.I1108M	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.I169M|DOCK2_ENST00000520908.1_Missense_Mutation_p.I600M	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1108	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGCCACCATACCAATCTTCT	0.453													115	42					0	0	0	0	G	169446055	A	G	169446055	3	3	104	1	0	0	0	0	1	0	0	0	4723	381	14	5	3454	5	DOCK2	5	169446055	Missense_Mutation	SNP	A	TCGA-CN-6988-01A-11D-1912-08	28882334	169446055	11469205	67	19910											
F13A1	2162	broad.mit.edu	37	chr6	6266819	6266819	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggattgaagagaatgtaCgtgtctgtttctgggtttcg	9	14	13	5	2	2	2	0	1	2	1	3	4	2	3	0	2	1	3	0	2	4	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:6266819C>T	ENST00000264870.3	-	4	808	c.543G>A	c.(541-543)acG>acA	p.T181T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	181					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)	AGAGAATGTACGTGTCTGTTT	0.453													23	70					0	0	0	0	T	6266819	C	T	6266819	2	4	104	1	0	0	0	0	0	0	0	1	5378	523	19	1		1	F13A1	6	6266819	Silent	SNP	C	TCGA-CN-6988-01A-11D-1912-08		6266819	164848248	68	19911											
CPNE5	57699	broad.mit.edu	37	chr6	36767826	36767826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcaggattgagcgtgttgtCgatgacttcggtgcgcccaa	7	11	14	9	4	1	2	1	2	0	0	3	4	1	3	1	2	2	1	1	2	1	3	rs148202375		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:36767826C>T	ENST00000244751.2	-	4	829	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	69	C2 1.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCGTGTTGTCGATGACTTCG	0.562													8	27					0	0	0	0	T	36767826	C	T	36767826	3	4	104	1	0	0	0	0	1	0	0	0	3845	884	31	1	1648	1	CPNE5	6	36767826	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	30501007	36767826	134347241	69	19912											
KCNK16	83795	broad.mit.edu	37	chr6	39285582	39285582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggagcgcctgggacggtCctcccatctttcaatggcgg	5	9	14	13	3	2	0	1	0	1	0	4	2	4	2	3	5	1	0	3	5	1	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:39285582C>A	ENST00000425054.2	-	3	474	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	KCNK16_ENST00000507712.1_Missense_Mutation_p.D94Y|KCNK16_ENST00000437525.2_Missense_Mutation_p.D159Y|KCNK16_ENST00000373227.4_Missense_Mutation_p.D159Y|KCNK16_ENST00000373229.5_Missense_Mutation_p.D159Y	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	159						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CTGGGACGGTCCTCCCATCTT	0.587													11	8					1.58986e-06	6.33367e-06	1	0	A	39285582	C	A	39285582	3	1	104	1	0	0	0	0	1	0	0	0	8116	855	30	2	855	2	KCNK16	6	39285582	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	2517756	39285582	131829485	70	19913											
GPR116	221395	broad.mit.edu	37	chr6	46849211	46849211	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatagtaactgcttgaaaGgagttgtagtccattttgta	11	15	10	5	0	0	2	0	2	0	0	1	3	1	3	1	1	2	5	1	1	5	8			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:46849211G>T	ENST00000283296.7	-	8	1083	c.795C>A	c.(793-795)tcC>tcA	p.S265S	GPR116_ENST00000362015.4_Silent_p.S265S|GPR116_ENST00000265417.7_Silent_p.S265S|GPR116_ENST00000456426.2_Silent_p.S265S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	265	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTGCTTGAAAGGAGTTGTAGT	0.353													18	43					5.35267e-07	2.15569e-06	1	0	T	46849211	G	T	46849211	2	4	104	1	0	0	0	0	0	0	0	1	6682	987	35	4		4	GPR116	6	46849211	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08	7563629	46849211	124265856	71	19914											
REV3L	5980	broad.mit.edu	37	chr6	111689002	111689002	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacttggggcacatttgcAaggcataatcacaatttttt	11	14	8	8	1	1	0	1	0	0	0	2	1	1	0	0	3	1	3	0	3	3	6			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:111689002A>T	ENST00000435970.1	-	16	6571	c.5755T>A	c.(5755-5757)Tgc>Agc	p.C1919S	REV3L_ENST00000368802.3_Missense_Mutation_p.C1997S|REV3L_ENST00000368805.1_Missense_Mutation_p.C1997S|REV3L_ENST00000358835.3_Missense_Mutation_p.C1997S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1997					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCACATTTGCAAGGCATAATC	0.453								DNA polymerases (catalytic subunits)					27	63					0	0	0	0	T	111689002	A	T	111689002	3	4	104	1	0	0	0	0	1	0	0	0	13322	130	5	5	3479	5	REV3L	6	111689002	Missense_Mutation	SNP	A	TCGA-CN-6988-01A-11D-1912-08	64839791	111689002	59426065	72	19915											
LAMA2	3908	broad.mit.edu	37	chr6	129670496	129670496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactaccgctgcacggcttGtccacggggatatgaaggcc	8	7	13	13	4	0	1	0	1	0	0	1	3	1	2	3	4	2	3	3	4	3	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:129670496G>A	ENST00000421865.2	+	31	4539	c.4490G>A	c.(4489-4491)tGt>tAt	p.C1497Y		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1497	Laminin EGF-like 16.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCACGGCTTGTCCACGGGGA	0.433													20	35					0	0	0	0	A	129670496	G	A	129670496	3	1	104	1	0	0	0	0	1	0	0	0	8659	1377	48	4	4612	4	LAMA2	6	129670496	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	17981494	129670496	41444571	73	19916											
TMEM200A	114801	broad.mit.edu	37	chr6	130762658	130762658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtacaagtcatctatggCtctcggacctggggctggac	8	10	12	11	1	4	0	2	0	2	0	5	2	4	2	1	5	1	3	1	5	3	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:130762658C>G	ENST00000392429.1	+	2	3469	c.1091C>G	c.(1090-1092)gCt>gGt	p.A364G	TMEM200A_ENST00000545622.1_Missense_Mutation_p.A364G|TMEM200A_ENST00000296978.3_Missense_Mutation_p.A364G	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	364						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCATCTATGGCTCTCGGACCT	0.527													17	30					0	0	0	0	G	130762658	C	G	130762658	3	3	104	1	0	0	0	0	1	0	0	0	16217	797	28	4	1093	4	TMEM200A	6	130762658	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	1092162	130762658	40352409	74	19917											
EPB41L2	2037	broad.mit.edu	37	chr6	131277410	131277410	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtatgaaccgagaaataccCctgctctccgatgtttcctt	9	12	8	12	2	1	2	0	1	1	1	3	4	2	2	5	1	3	3	5	1	4	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:131277410C>A	ENST00000337057.3	-	2	397	c.216G>T	c.(214-216)agG>agT	p.R72S	EPB41L2_ENST00000445890.2_Missense_Mutation_p.R72S|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R72S|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R72S|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R72S	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	72					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GAGAAATACCCCTGCTCTCCG	0.498													35	70					3.76114e-14	1.69022e-13	1	0	A	131277410	C	A	131277410	3	1	104	1	0	0	0	0	1	0	0	0	5191	622	22	4	2873	4	EPB41L2	6	131277410	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	514752	131277410	39837657	75	19918											
MOXD1	26002	broad.mit.edu	37	chr6	132619016	132619016	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagagaccttcctttttagtCcatttaaacttattcatagc	11	16	5	9	0	1	1	1	0	0	1	3	3	3	1	3	0	2	0	3	0	5	9	rs140134245	by1000genomes	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:132619016C>G	ENST00000367963.3	-	11	1705	c.1587G>C	c.(1585-1587)tgG>tgC	p.W529C	MOXD1_ENST00000336749.3_Missense_Mutation_p.W461C	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	529					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CCTTTTTAGTCCATTTAAACT	0.403													14	28					0	0	0	0	G	132619016	C	G	132619016	3	3	104	1	0	0	0	0	1	0	0	0	9790	856	30	2	262	2	MOXD1	6	132619016	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	1341606	132619016	38496051	76	19919											
HEBP2	23593	broad.mit.edu	37	chr6	138734184	138734184	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgaagtgtggttgattcAaaaaaatgaacccaccaaag	18	9	8	6	0	1	3	1	3	0	0	1	3	1	3	2	1	1	1	2	1	7	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:138734184A>C	ENST00000607197.1	+	4	864	c.587A>C	c.(586-588)cAa>cCa	p.Q196P	HEBP2_ENST00000448741.1_3'UTR|HEBP2_ENST00000367697.3_3'UTR	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	196						mitochondrion		p.N198fs*2(1)		endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		TGGTTGATTCAAAAAAATGAA	0.363													43	48					0	0	0	0	C	138734184	A	C	138734184	3	2	104	1	0	0	0	0	1	0	0	0	7087	130	5	5	601	5	HEBP2	6	138734184	Missense_Mutation	SNP	A	TCGA-CN-6988-01A-11D-1912-08	6115168	138734184	32380883	77	19920											
HIVEP2	3097	broad.mit.edu	37	chr6	143095631	143095631	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacgatgcggtggatattgcTtctctgcgacttgctgcacc	6	12	12	11	3	1	0	0	0	1	0	2	4	1	1	1	2	5	3	1	2	1	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:143095631T>G	ENST00000367603.2	-	5	987	c.245A>C	c.(244-246)aAg>aCg	p.K82T	HIVEP2_ENST00000012134.2_Missense_Mutation_p.K82T|HIVEP2_ENST00000367604.1_Missense_Mutation_p.K82T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGATATTGCTTCTCTGCGAC	0.527													36	66					0	0	0	0	G	143095631	T	G	143095631	3	3	104	1	0	0	0	0	1	0	0	0	7237	1609	56	5	7119	5	HIVEP2	6	143095631	Missense_Mutation	SNP	T	TCGA-CN-6988-01A-11D-1912-08	4361447	143095631	28019436	78	19921											
COL28A1	340267	broad.mit.edu	37	chr7	7412808	7412808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcagtttctctttatcaCgagaatctgtctgtccatca	8	16	6	11	1	6	1	3	0	3	1	8	2	7	1	1	0	0	1	1	0	2	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:7412808C>T	ENST00000399429.3	-	32	2869	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	910	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTTTATCACGAGAATCTGT	0.453													17	37					0	0	0	0	T	7412808	C	T	7412808	3	4	104	1	0	0	0	0	1	0	0	0	3716	536	19	1	664	1	COL28A1	7	7412808	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08		7412808	151725855	79	19922											
PTPN12	5782	broad.mit.edu	37	chr7	77212881	77212881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatttttagggcgtctatGggccaaaagcatatgtagca	12	11	10	8	1	1	0	0	0	1	0	1	0	1	0	2	2	2	3	2	2	6	6			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:77212881G>A	ENST00000248594.6	+	4	567	c.295G>A	c.(295-297)Ggg>Agg	p.G99R	PTPN12_ENST00000435495.2_Intron|PTPN12_ENST00000415482.2_5'UTR	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	99	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GGGCGTCTATGGGCCAAAAGC	0.299													18	27					0	0	0	0	A	77212881	G	A	77212881	3	1	104	1	0	0	0	0	1	0	0	0	12861	1348	47	4	309	4	PTPN12	7	77212881	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	69800073	77212881	81925782	80	19923											
ABCB1	5243	broad.mit.edu	37	chr7	87179361	87179361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcctaatatcctgtccatCaacactgacctggaataaaa	14	10	6	11	0	1	1	1	1	0	0	4	2	4	2	4	2	1	0	4	2	6	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:87179361C>T	ENST00000265724.3	-	14	1777	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	ABCB1_ENST00000543898.1_Missense_Mutation_p.D390N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	454	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCCTGTCCATCAACACTGACC	0.413													44	54					0	0	0	0	T	87179361	C	T	87179361	3	4	104	1	0	0	0	0	1	0	0	0	40	826	29	2	2546	2	ABCB1	7	87179361	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	9966480	87179361	71959302	81	19924											
TRRAP	8295	broad.mit.edu	37	chr7	98501107	98501107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggagcttctgattgctGccaaacacatcctcaccaca	13	8	7	13	0	2	1	1	1	1	0	3	3	3	2	3	1	4	2	3	1	2	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:98501107G>T	ENST00000359863.4	+	12	1212	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S	TRRAP_ENST00000446306.3_Missense_Mutation_p.A335S|TRRAP_ENST00000355540.3_Missense_Mutation_p.A335S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	335					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTGATTGCTGCCAAACACAT	0.498													34	70					1.47244e-24	7.28317e-24	1	0	T	98501107	G	T	98501107	3	4	104	1	0	0	0	0	1	0	0	0	16696	1319	46	4	1045	4	TRRAP	7	98501107	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	11321746	98501107	60637556	82	19925											
RELN	5649	broad.mit.edu	37	chr7	103214584	103214584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtccgggcttcccttttcCcagggccattgaagtagaga	7	10	11	13	2	0	2	0	1	0	1	3	3	3	2	5	2	0	2	5	2	2	5			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:103214584C>A	ENST00000428762.1	-	30	4625	c.4466G>T	c.(4465-4467)gGg>gTg	p.G1489V	RELN_ENST00000343529.5_Missense_Mutation_p.G1489V|RELN_ENST00000424685.2_Missense_Mutation_p.G1489V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1489					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCCTTTTCCCAGGGCCATT	0.473													621	142					8.2041e-283	4.25804e-282	1	0	A	103214584	C	A	103214584	3	1	104	1	0	0	0	0	1	0	0	0	13302	623	22	4	6060	4	RELN	7	103214584	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	4713477	103214584	55924079	83	19926											
DPP6	1804	broad.mit.edu	37	chr7	154664386	154664386	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcaccgacaccacccactaCcctctgctcctggtggtgta	7	10	7	17	1	2	0	1	0	1	0	3	1	3	0	5	2	2	2	5	2	2	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:154664386C>A	ENST00000404039.1	+	19	2261	c.1674C>A	c.(1672-1674)taC>taA	p.Y558*	DPP6_ENST00000377770.3_Nonsense_Mutation_p.Y622*|DPP6_ENST00000332007.3_Nonsense_Mutation_p.Y560*|DPP6_ENST00000427557.1_Nonsense_Mutation_p.Y515*	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	622					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCACCCACTACCCTCTGCTCC	0.547													6	4					0.00198382	0.00723799	1	0	A	154664386	C	A	154664386	4	1	104	1	0	0	0	0	0	1	0	0	4766	518	18	4	2056	4	DPP6	7	154664386	Nonsense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	51449802	154664386	4474277	84	19927											
MTUS1	57509	broad.mit.edu	37	chr8	17611420	17611431	+	In_Frame_Del	DEL	ACGCAGAAACGG	ACGCAGAAACGG	-																															gcctttgatcttctgaaacaAcgcagaaacggacccggtct																										TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:17611420_17611431delACGCAGAAACGG	ENST00000381869.3	-	2	2359_2370	c.1886_1897delCCGTTTCTGCGT	c.(1885-1899)ttg>t	p.SVSAL629del	MTUS1_ENST00000381862.3_In_Frame_Del_p.SVSAL629del|MTUS1_ENST00000519263.1_In_Frame_Del_p.SVSAL629del|MTUS1_ENST00000262102.6_In_Frame_Del_p.SVSAL629del	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	629						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTCTGAAACAACGCAGAAACGGACCCGGTCTC	0.434													23	81	---	---	---	---					-	17611431	ACGCAGAAACGG	-	17611420	7	5	104	1	0	1	0	1	0	0	0	0	10035	40	2	0	2290	0	MTUS1	8	17611420	In_Frame_Del	DEL	ACGCAGAAACGG	TCGA-CN-6988-01A-11D-1912-08		17611420	128752602	85	19928											
ADAM28	10863	broad.mit.edu	37	chr8	24167753	24167753	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacaagcccacaaattaTggtataacggagtctcttca	14	9	6	12	1	2	0	1	0	1	0	3	1	2	1	2	2	2	1	2	2	5	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:24167753T>A	ENST00000265769.4	+	4	415	c.306_splice	c.e4+1	p.M102_splice	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Splice_Site_p.M102_splice	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	102					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCACAAATTATGGTATAACGG	0.403													6	26					0	0	0	0	A	24167753	T	A	24167753	5	1	104	1	0	0	0	0	0	0	1	0	246	1478	51	5	319	5	ADAM28	8	24167753	Splice_Site	SNP	T	TCGA-CN-6988-01A-11D-1912-08	6556333	24167753	122196269	86	19929											
EBF2	64641	broad.mit.edu	37	chr8	25720221	25720231	+	Splice_Site	DEL	TTACCTTAGCT	TTACCTTAGCT	-																															atgtcaatttccaaagcacaTtaccttagctaatctctcag																										TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:25720221_25720231delTTACCTTAGCT	ENST00000520164.1	-	11	1629_1636	c.1098_splice	c.e11+1	p.F364_splice	EBF2_ENST00000408929.3_Splice_Site_p.F216_splice|EBF2_ENST00000535548.1_Splice_Site_p.F95_splice	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	364					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCAAAGCACATTACCTTAGCTAATCTCTCAG	0.403													9	54	---	---	---	---					-	25720231	TTACCTTAGCT	-	25720221	8	5	104	1	0	1	0	1	0	0	1	0	4917	1508	52	0		0	EBF2	8	25720221	Splice_Site	DEL	TTACCTTAGCT	TCGA-CN-6988-01A-11D-1912-08	1552468	25720221	120643801	87	19930											
TRIM35	23087	broad.mit.edu	37	chr8	27145584	27145584	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccatggttggtgacgctgGtgaggtcgtcagacacggag	8	8	17	8	3	1	3	1	2	0	1	2	4	1	4	1	5	1	2	1	5	0	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:27145584G>C	ENST00000305364.4	-	6	1048	c.965C>G	c.(964-966)aCc>aGc	p.T322S	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	322	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGTGACGCTGGTGAGGTCGTC	0.627													15	48					0	0	0	0	C	27145584	G	C	27145584	3	2	104	1	0	0	0	0	1	0	0	0	16604	1261	44	4	520	4	TRIM35	8	27145584	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	1425363	27145584	119218438	88	19931											
DDHD2	23259	broad.mit.edu	37	chr8	38092023	38092023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaactggcatcggaagtgaGacgatgtacgtggttttaca	11	11	13	6	3	0	2	0	2	0	1	1	5	0	3	0	3	3	3	0	3	4	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:38092023G>A	ENST00000397166.2	+	3	857	c.332G>A	c.(331-333)aGa>aAa	p.R111K	DDHD2_ENST00000520272.2_Missense_Mutation_p.R111K	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	111	WWE.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TCGGAAGTGAGACGATGTACG	0.448													41	90					0	0	0	0	A	38092023	G	A	38092023	3	1	104	1	0	0	0	0	1	0	0	0	4359	942	33	2	338	2	DDHD2	8	38092023	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	10946439	38092023	108271999	89	19932											
UBXN2B	137886	broad.mit.edu	37	chr8	59358527	59358527	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaggataaatcaatacttAatgcagttgttcttattgat	14	15	8	4	0	2	1	1	1	1	0	2	3	2	3	0	2	2	3	0	2	6	7			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:59358527A>C	ENST00000399598.2	+	7	855	c.733A>C	c.(733-735)Aat>Cat	p.N245H		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	245						cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						ATCAATACTTAATGCAGTTGT	0.353													17	47					0	0	0	0	C	59358527	A	C	59358527	3	2	104	1	0	0	0	0	1	0	0	0	17011	362	13	5	759	5	UBXN2B	8	59358527	Missense_Mutation	SNP	A	TCGA-CN-6988-01A-11D-1912-08	21266504	59358527	87005495	90	19933											
CHD7	55636	broad.mit.edu	37	chr8	61764637	61764637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcctaacacttcaaccCtgactacacgtctgcgccgg	9	8	8	16	3	2	1	1	1	1	0	2	1	2	1	3	2	4	0	3	2	3	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:61764637C>A	ENST00000423902.2	+	29	6204	c.5725C>A	c.(5725-5727)Ctg>Atg	p.L1909M	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1909					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CACTTCAACCCTGACTACACG	0.498													13	21					1.05317e-09	4.48663e-09	1	0	A	61764637	C	A	61764637	3	1	104	1	0	0	0	0	1	0	0	0	3359	680	24	4	5835	4	CHD7	8	61764637	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	2406110	61764637	84599385	91	19934											
TCEB1	6921	broad.mit.edu	37	chr8	74858964	74858964	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgttagtgtagcgaacCttgtacgtaaaatacatgca	13	11	10	7	2	0	0	0	0	0	0	0	2	0	0	1	0	6	6	1	0	7	6			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:74858964C>T	ENST00000518127.1	-	4	332	c.240G>A	c.(238-240)aaG>aaA	p.K80K	TCEB1_ENST00000523815.1_Silent_p.K80K|TCEB1_ENST00000522337.1_Silent_p.K80K|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000519487.1_Silent_p.K80K|TCEB1_ENST00000520210.1_Silent_p.K64K|TCEB1_ENST00000284811.8_Silent_p.K80K|TCEB1_ENST00000520242.1_Silent_p.K80K	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	80					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TGTAGCGAACCTTGTACGTAA	0.413													18	20					0	0	0	0	T	74858964	C	T	74858964	2	4	104	1	0	0	0	0	0	0	0	1	15773	680	24	4		4	TCEB1	8	74858964	Silent	SNP	C	TCGA-CN-6988-01A-11D-1912-08	13094327	74858964	71505058	92	19935											
UBR5	51366	broad.mit.edu	37	chr8	103358499	103358499	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attcgctggctgtatcatccCcatcatctccatcttcatca	8	14	4	15	1	6	0	4	0	2	0	9	0	7	0	3	1	0	3	3	1	1	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:103358499C>A	ENST00000520539.1	-	7	1307	c.701G>T	c.(700-702)gGg>gTg	p.G234V	UBR5_ENST00000220959.4_Missense_Mutation_p.G234V|UBR5_ENST00000521922.1_Missense_Mutation_p.G234V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	234					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGTATCATCCCCATCATCTCC	0.428													48	67					3.76525e-18	1.75632e-17	1	0	A	103358499	C	A	103358499	3	1	104	1	0	0	0	0	1	0	0	0	17001	623	22	4	7910	4	UBR5	8	103358499	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	28499535	103358499	43005523	93	19936											
FANCG	2189	broad.mit.edu	37	chr9	35079225	35079225	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtcgcctcagagtcagaccgGagttctgagccacctgccac	8	7	11	15	2	3	3	2	1	1	2	4	4	3	4	5	1	2	1	5	1	0	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr9:35079225G>C	ENST00000378643.3	-	2	589	c.98C>G	c.(97-99)tCc>tGc	p.S33C		NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	33					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTCAGACCGGAGTTCTGAGC	0.572			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks					4	5					0	0	0	0	C	35079225	G	C	35079225	3	2	104	1	0	0	0	0	1	0	0	0	5713	1174	41	2	1822	2	FANCG	9	35079225	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08		35079225	106134206	94	19937											
TDRD7	23424	broad.mit.edu	37	chr9	100222478	100222478	+	Missense_Mutation	SNP	G	G	T																															aggtggagaaaccttgcagtGgtggccaagatttacttctt																										TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr9:100222478G>T	ENST00000355295.4	+	7	1169	c.874G>T	c.(874-876)Ggt>Tgt	p.G292C	TDRD7_ENST00000422139.2_Missense_Mutation_p.G218C	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	292	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ACCTTGCAGTGGTGGCCAAGA	0.378													10	38					4.68919e-08	1.91996e-07	1	0	T	100222478	G	T	100222478	3	4	104	1	0	0	0	0	1	0	0	0	15829	1348	47	4	896	4	TDRD7	9	100222478	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	65143253	100222478	40990953	95	19938	163	2									
TDRD7	23424	broad.mit.edu	37	chr9	100222479	100222479	+	Missense_Mutation	SNP	G	G	T																															ggtggagaaaccttgcagtgGtggccaagatttacttcttt																										TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr9:100222479G>T	ENST00000355295.4	+	7	1170	c.875G>T	c.(874-876)gGt>gTt	p.G292V	TDRD7_ENST00000422139.2_Missense_Mutation_p.G218V	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	292	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CCTTGCAGTGGTGGCCAAGAT	0.373													10	37					4.68919e-08	1.91996e-07	1	0	T	100222479	G	T	100222479	3	4	104	1	0	0	0	0	1	0	0	0	15829	1261	44	4	897	4	TDRD7	9	100222479	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	1	100222479	40990952	96	19939	163	2									
GATA3	2625	broad.mit.edu	37	chr10	8100734	8100734	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccggactcttccccccCagcagcctgctgggcggctc	4	7	11	19	2	1	0	0	0	1	0	4	1	3	1	5	3	4	4	5	3	0	1	rs143582578		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:8100734C>A	ENST00000379328.3	+	3	1276	c.708C>A	c.(706-708)ccC>ccA	p.P236P	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Silent_p.P236P	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	236					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCTTCCCCCCCAGCAGCCTGC	0.682			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						18	25					1.01871e-10	4.44255e-10	1	0	A	8100734	C	A	8100734	2	1	104	1	0	0	0	0	0	0	0	1	6304	581	21	4		4	GATA3	10	8100734	Silent	SNP	C	TCGA-CN-6988-01A-11D-1912-08		8100734	127434013	97	19940											
CUBN	8029	broad.mit.edu	37	chr10	17142173	17142173	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctccatcataaacctgAagaaactcgtgtggacagtt	14	10	8	9	1	2	2	1	1	1	1	4	4	2	3	2	1	2	1	2	1	5	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:17142173A>C	ENST00000377833.4	-	14	1661	c.1596T>G	c.(1594-1596)ctT>ctG	p.L532L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	532	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATAAACCTGAAGAAACTCGT	0.413													16	34					0	0	0	0	C	17142173	A	C	17142173	2	2	104	1	0	0	0	0	0	0	0	1	4083	233	9	5		5	CUBN	10	17142173	Silent	SNP	A	TCGA-CN-6988-01A-11D-1912-08	9041439	17142173	118392574	98	19941											
A1CF	29974	broad.mit.edu	37	chr10	52575977	52575977	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtgcctcgggtatacctAacataactgtccttgtccac	8	12	7	14	1	0	0	0	0	0	0	3	0	2	0	5	1	4	1	5	1	4	5			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:52575977A>T	ENST00000395489.2	-	11	1305	c.909T>A	c.(907-909)gtT>gtA	p.V303V	A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373997.3_Silent_p.V310V|A1CF_ENST00000282641.2_Silent_p.V310V|A1CF_ENST00000373995.3_Silent_p.V318V|A1CF_ENST00000395495.1_Silent_p.V255V|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373993.1_Silent_p.V310V|A1CF_ENST00000374001.1_Silent_p.V310V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	310	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGGTATACCTAACATAACTGT	0.493													18	50					0	0	0	0	T	52575977	A	T	52575977	2	4	104	1	0	0	0	0	0	0	0	1	2	349	13	5		5	A1CF	10	52575977	Silent	SNP	A	TCGA-CN-6988-01A-11D-1912-08	35433804	52575977	82958770	99	19942											
TET1	80312	broad.mit.edu	37	chr10	70406098	70406098	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggcaattttgtccacaTgattttcctactgtatttgg	7	19	8	7	0	0	1	0	1	0	0	2	1	2	1	2	2	1	2	2	2	3	8			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:70406098T>C	ENST00000373644.4	+	4	3821	c.3612T>C	c.(3610-3612)caT>caC	p.H1204H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1204					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTTGTCCACATGATTTTCCTA	0.388													17	45					0	0	0	0	C	70406098	T	C	70406098	2	2	104	1	0	0	0	0	0	0	0	1	15863	1461	51	5		5	TET1	10	70406098	Silent	SNP	T	TCGA-CN-6988-01A-11D-1912-08	17830121	70406098	65128649	100	19943											
ANXA7	310	broad.mit.edu	37	chr10	75158106	75158106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccactaggataaggatacTgaccagaagggggaaaagat	17	5	13	6	0	0	3	0	1	0	2	0	6	0	6	2	4	2	0	2	4	6	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:75158106T>C	ENST00000372921.4	-	3	148	c.92A>G	c.(91-93)cAg>cGg	p.Q31R	ANXA7_ENST00000535178.1_5'UTR|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	31	Repeat-rich region.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ATAAGGATACTGACCAGAAGG	0.468													11	19					0	0	0	0	C	75158106	T	C	75158106	3	2	104	1	0	0	0	0	1	0	0	0	722	1580	55	5	1422	5	ANXA7	10	75158106	Missense_Mutation	SNP	T	TCGA-CN-6988-01A-11D-1912-08	4752008	75158106	60376641	101	19944											
PANK1	53354	broad.mit.edu	37	chr10	91353635	91353635	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgtaaatgtccttcacCagtttatcaacattggtgct	9	14	6	12	1	2	0	2	0	0	0	4	0	4	0	4	1	2	3	4	1	4	5			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:91353635C>A	ENST00000307534.4	-	4	1577	c.1422G>T	c.(1420-1422)ctG>ctT	p.L474L	PANK1_ENST00000322191.6_Intron|PANK1_ENST00000371774.2_Silent_p.L276L|PANK1_ENST00000342512.3_Silent_p.L249L	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	474					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TGTCCTTCACCAGTTTATCAA	0.448													6	135					0.00116845	0.00430572	1	0	A	91353635	C	A	91353635	2	1	104	1	0	0	0	0	0	0	0	1	11487	581	21	4		4	PANK1	10	91353635	Silent	SNP	C	TCGA-CN-6988-01A-11D-1912-08	16195529	91353635	44181112	102	19945											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118386435	118386435	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actggaggcacgggtcccggGcaatgtacacccaagccgtg	9	5	14	13	3	0	0	0	0	0	0	1	1	1	1	3	4	2	3	3	4	3	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:118386435G>T	ENST00000537242.1	+	0	417				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CGGGTCCCGGGCAATGTACAC	0.502													6	17					0.000157383	0.000591793	1	0	T	118386435	G	T	118386435	1	4	104	0	1	0	0	0	0	0	0	0	12223	1203	42	4		4	PNLIPRP2	10	118386435	RNA	SNP	G	TCGA-CN-6988-01A-11D-1912-08	27032800	118386435	17148312	103	19946											
NSMCE4A	54780	broad.mit.edu	37	chr10	123719881	123719881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtatcatttacctattactGgcagtcggtcttggtcaagt	9	15	9	8	1	3	0	2	0	1	0	4	0	3	0	1	3	2	2	1	3	5	6			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:123719881G>A	ENST00000538652.1	-	8	1140	c.503C>T	c.(502-504)cCa>cTa	p.P168L	NSMCE4A_ENST00000369023.3_Missense_Mutation_p.P327L|NSMCE4A_ENST00000489266.1_5'UTR			Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	327										breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				ACCTATTACTGGCAGTCGGTC	0.289													9	25					0	0	0	0	A	123719881	G	A	123719881	3	1	104	1	0	0	0	0	1	0	0	0	10748	1348	47	4	189	4	NSMCE4A	10	123719881	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	5333446	123719881	11814866	104	19947											
ANO5	203859	broad.mit.edu	37	chr11	22296276	22296276	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcaccttcggaaaaacgAgacttcatcacttgcaggtg	12	9	9	11	2	2	1	2	0	0	1	3	3	2	2	1	2	3	2	1	2	2	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:22296276A>T	ENST00000324559.8	+	20	2714	c.2397A>T	c.(2395-2397)cgA>cgT	p.R799R	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	799						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGAAAAACGAGACTTCATCA	0.373													14	28					0	0	0	0	T	22296276	A	T	22296276	2	4	104	1	0	0	0	0	0	0	0	1	699	291	11	5		5	ANO5	11	22296276	Silent	SNP	A	TCGA-CN-6988-01A-11D-1912-08		22296276	112710240	105	19948											
AMBRA1	55626	broad.mit.edu	37	chr11	46439569	46439569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgacatgtctccgctggtCggcaggcatgggataaagga	10	8	14	9	2	1	1	0	1	1	0	3	3	1	3	1	5	0	3	1	5	2	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:46439569C>A	ENST00000458649.2	-	15	3428	c.3010G>T	c.(3010-3012)Gac>Tac	p.D1004Y	AMBRA1_ENST00000533727.1_Missense_Mutation_p.D885Y|AMBRA1_ENST00000534300.1_Missense_Mutation_p.D944Y|AMBRA1_ENST00000528950.1_Missense_Mutation_p.D975Y|AMBRA1_ENST00000426438.1_Missense_Mutation_p.D975Y|AMBRA1_ENST00000298834.3_Missense_Mutation_p.D944Y|AMBRA1_ENST00000314845.3_Missense_Mutation_p.D914Y			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1004					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTCCGCTGGTCGGCAGGCATG	0.488													21	44					3.5997e-14	1.62759e-13	1	0	A	46439569	C	A	46439569	3	1	104	1	0	0	0	0	1	0	0	0	565	884	31	3	902	3	AMBRA1	11	46439569	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	24143293	46439569	88566947	106	19949											
C11orf68	83638	broad.mit.edu	37	chr11	65685263	65685263	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaatgccagcccaggcGtggtccagcttgaagcccgg	7	5	15	14	3	0	1	0	1	0	0	1	1	1	1	4	4	4	2	4	4	2	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:65685263G>A	ENST00000438576.2	-	2	634	c.549C>T	c.(547-549)caC>caT	p.H183H	C11orf68_ENST00000449692.3_Silent_p.H182H|C11orf68_ENST00000530188.1_Silent_p.H141H			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	141										large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		CAGCCCAGGCGTGGTCCAGCT	0.657													12	35					0	0	0	0	A	65685263	G	A	65685263	2	1	104	1	0	0	0	0	0	0	0	1	1669	1136	40	1		1	C11orf68	11	65685263	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08	19245694	65685263	69321253	107	19950											
C11orf30	56946	broad.mit.edu	37	chr11	76253279	76253279	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcagccatcgctcccagccCcaacagccttcccagcccca	8	5	6	22	1	1	0	1	0	0	0	4	0	3	0	8	0	5	1	8	0	1	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:76253279C>T	ENST00000529032.1	+	17	2577	c.2577C>T	c.(2575-2577)ccC>ccT	p.P859P	C11orf30_ENST00000533248.1_Silent_p.P768P|C11orf30_ENST00000525919.1_Silent_p.P860P|C11orf30_ENST00000524767.1_Silent_p.P874P|C11orf30_ENST00000524490.1_Silent_p.P761P|C11orf30_ENST00000334736.3_Silent_p.P859P|C11orf30_ENST00000525038.1_Silent_p.P860P|C11orf30_ENST00000343878.3_Silent_p.P859P			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	859					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCTCCCAGCCCCAACAGCCTT	0.517													92	85					0	0	0	0	T	76253279	C	T	76253279	2	4	104	1	0	0	0	0	0	0	0	1	1647	610	22	4		4	C11orf30	11	76253279	Silent	SNP	C	TCGA-CN-6988-01A-11D-1912-08	10568016	76253279	58753237	108	19951											
GRM5	2915	broad.mit.edu	37	chr11	88386529	88386529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaccaacagcttctcgCtgatatccatctgtcacatc	10	11	5	15	1	3	1	1	1	2	0	6	1	4	1	3	0	3	2	3	0	2	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:88386529C>A	ENST00000418177.2	-	4	1321	c.954G>T	c.(952-954)caG>caT	p.Q318H	GRM5_ENST00000455756.2_Missense_Mutation_p.Q318H|GRM5_ENST00000305447.4_Missense_Mutation_p.Q318H|GRM5_ENST00000393297.1_Missense_Mutation_p.Q318H|GRM5_ENST00000305432.5_Missense_Mutation_p.Q318H			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	318					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CAGCTTCTCGCTGATATCCAT	0.453													17	79					1.67942e-08	7.03255e-08	1	0	A	88386529	C	A	88386529	3	1	104	1	0	0	0	0	1	0	0	0	6850	796	28	4	2712	4	GRM5	11	88386529	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	12133250	88386529	46619987	109	19952											
MTMR2	8898	broad.mit.edu	37	chr11	95580901	95580901	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatatgttctagccaatgagTagattccaagttagacaacc	15	11	7	8	0	1	3	0	1	1	2	2	3	2	3	3	0	2	3	3	0	8	6			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:95580901T>C	ENST00000393223.3	-	12	1602	c.940A>G	c.(940-942)Act>Gct	p.T314A	MTMR2_ENST00000409459.1_Missense_Mutation_p.T314A|MTMR2_ENST00000346299.5_Missense_Mutation_p.T386A|MTMR2_ENST00000352297.7_Missense_Mutation_p.T314A	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	386	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCCAATGAGTAGATTCCAAG	0.358													22	65					0	0	0	0	C	95580901	T	C	95580901	3	2	104	1	0	0	0	0	1	0	0	0	10014	1638	57	5	799	5	MTMR2	11	95580901	Missense_Mutation	SNP	T	TCGA-CN-6988-01A-11D-1912-08	7194372	95580901	39425615	110	19953											
PPP2R1B	5519	broad.mit.edu	37	chr11	111636073	111636074	+	In_Frame_Ins	INS	-	-	ATT																															ctactccaagtgctagggcaINSattgttgataacttcttaat																										TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:111636073_111636074insATT	ENST00000527614.1	-	2	214_215	c.149_150insAAT	c.(148-150)agc>aAATgc	p.50_50S>KC	PPP2R1B_ENST00000311129.5_In_Frame_Ins_p.50_50S>KC|PPP2R1B_ENST00000393055.2_In_Frame_Ins_p.50_50S>KC|PPP2R1B_ENST00000341980.6_In_Frame_Ins_p.50_50S>KC|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000427203.2_5'UTR	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	50							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GTGCTAGGGCAATTGTTGATAA	0.361													28	86	---	---	---	---					ATT	111636074	-	ATT	111636073	7	5	104	1	0	1	1	0	0	0	0	0	12459	126	5	0	1934	0	PPP2R1B	11	111636073	In_Frame_Ins	INS	-	TCGA-CN-6988-01A-11D-1912-08	16055172	111636073	23370443	111	19954											
SIDT2	51092	broad.mit.edu	37	chr11	117052527	117052527	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcttcgggccataggtttCagcgcaagtacctctaccaa	9	10	9	13	2	2	0	1	0	1	0	3	0	2	0	3	2	4	4	3	2	5	5			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:117052527C>G	ENST00000324225.4	+	3	841	c.310C>G	c.(310-312)Cag>Gag	p.Q104E	SIDT2_ENST00000530948.1_3'UTR|SIDT2_ENST00000431081.2_Missense_Mutation_p.Q104E	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	104						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCATAGGTTTCAGCGCAAGTA	0.592											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	46					0	0	0	0	G	117052527	C	G	117052527	3	3	104	1	0	0	0	0	1	0	0	0	14391	827	29	2	320	2	SIDT2	11	117052527	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	5416454	117052527	17953989	112	19955											
SORL1	6653	broad.mit.edu	37	chr11	121454271	121454271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggactgccaggatggttccGatgaggatccagtcaactgt	9	9	13	10	2	1	1	1	1	0	0	3	5	3	4	3	4	2	1	3	4	1	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:121454271G>T	ENST00000260197.7	+	26	3814	c.3685G>T	c.(3685-3687)Gat>Tat	p.D1229Y	SORL1_ENST00000532694.1_Missense_Mutation_p.D75Y|SORL1_ENST00000534286.1_Missense_Mutation_p.D139Y|SORL1_ENST00000525532.1_Missense_Mutation_p.D173Y	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1229	LDL-receptor class A 4.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGATGGTTCCGATGAGGATCC	0.597													27	28					6.12954e-19	2.93342e-18	1	0	T	121454271	G	T	121454271	3	4	104	1	0	0	0	0	1	0	0	0	15022	1058	37	3	3787	3	SORL1	11	121454271	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	4401744	121454271	13552245	113	19956											
IQSEC3	440073	broad.mit.edu	37	chr12	266231	266231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acttctccagcatggagctgGacgaggccctgcgcaagttc	8	8	12	13	2	1	0	0	0	1	0	3	3	1	2	2	3	3	4	2	3	1	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:266231G>A	ENST00000538872.1	+	6	2312	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N	IQSEC3_ENST00000326261.4_Missense_Mutation_p.D732N|IQSEC3_ENST00000382841.2_Missense_Mutation_p.D429N			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	732	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CATGGAGCTGGACGAGGCCCT	0.637													6	11					0	0	0	0	A	266231	G	A	266231	3	1	104	1	0	0	0	0	1	0	0	0	7872	1174	41	2	2216	2	IQSEC3	12	266231	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08		266231	133585664	114	19957											
C1S	716	broad.mit.edu	37	chr12	7175808	7175808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgggtgaatgaggtgctggGcccggagctgccgaaatgtg	7	8	18	8	2	0	2	0	2	0	0	0	4	0	3	2	4	3	2	2	4	2	0			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:7175808G>A	ENST00000406697.1	+	14	1872	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.G415D|C1S_ENST00000402681.3_Missense_Mutation_p.G248D|C1S_ENST00000328916.3_Missense_Mutation_p.G415D			P09871	C1S_HUMAN	complement component 1, s subcomponent	415	Sushi 2.				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)	GAGGTGCTGGGCCCGGAGCTG	0.547													74	76					0	0	0	0	A	7175808	G	A	7175808	3	1	104	1	0	0	0	0	1	0	0	0	1993	1203	42	4	1282	4	C1S	12	7175808	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	6909577	7175808	126676087	115	19958											
SLC2A3	6515	broad.mit.edu	37	chr12	8083916	8083916	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccgcagggcagtaggcgaGatctctccaatgtacatggg	9	7	13	12	2	1	1	0	0	1	1	3	2	2	1	3	3	1	4	3	3	3	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:8083916G>A	ENST00000075120.7	-	4	675	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	145					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CAGTAGGCGAGATCTCTCCAA	0.517													38	47					0	0	0	0	A	8083916	G	A	8083916	2	1	104	1	0	0	0	0	0	0	0	1	14633	932	33	2		2	SLC2A3	12	8083916	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08	908108	8083916	125767979	116	19959											
SLCO1B1	10599	broad.mit.edu	37	chr12	21377659	21377659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcttctcctattacaggagGaattctagctccaatatatt	11	15	5	10	0	3	0	0	0	3	0	5	2	4	2	2	2	2	1	2	2	7	8			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:21377659G>A	ENST00000256958.2	+	14	1847	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	584					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATTACAGGAGGAATTCTAGCT	0.353													44	64					0	0	0	0	A	21377659	G	A	21377659	3	1	104	1	0	0	0	0	1	0	0	0	14811	1174	41	2	1801	2	SLCO1B1	12	21377659	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	13293743	21377659	112474236	117	19960											
HDAC7	51564	broad.mit.edu	37	chr12	48191248	48191248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgctgagcatggagcGggtggctccttccgtctcca	7	9	13	12	2	1	1	0	1	1	0	4	2	3	2	3	3	4	4	3	3	1	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:48191248G>A	ENST00000080059.7	-	6	495	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	HDAC7_ENST00000380610.4_Missense_Mutation_p.R183C|HDAC7_ENST00000552960.1_Missense_Mutation_p.R149C|HDAC7_ENST00000354334.3_Missense_Mutation_p.R166C|HDAC7_ENST00000427332.2_Missense_Mutation_p.R127C	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	127	Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		AGCATGGAGCGGGTGGCTCCT	0.622													24	50					0	0	0	0	A	48191248	G	A	48191248	3	1	104	1	0	0	0	0	1	0	0	0	7062	1116	39	1	2563	1	HDAC7	12	48191248	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	26813589	48191248	85660647	118	19961											
AQP6	363	broad.mit.edu	37	chr12	50368216	50368216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagccgtcagacatcaggctCcccggccaccatgattggga	9	6	11	15	2	2	2	2	1	0	1	3	3	3	3	5	3	1	1	5	3	0	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:50368216C>T	ENST00000315520.5	+	2	849	c.512C>T	c.(511-513)tCc>tTc	p.S171F	AQP6_ENST00000551733.1_5'UTR	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	171					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						ACATCAGGCTCCCCGGCCACC	0.627											OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	36					0	0	0	0	T	50368216	C	T	50368216	3	4	104	1	0	0	0	0	1	0	0	0	832	855	30	2	518	2	AQP6	12	50368216	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	2176968	50368216	83483679	119	19962											
STAT2	6773	broad.mit.edu	37	chr12	56740685	56740685	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtagaaaggtgccagacatGgtcttcttcagcagccggcg	10	8	13	10	2	3	2	1	0	2	2	3	2	3	2	2	3	3	2	2	3	2	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:56740685G>A	ENST00000314128.4	-	20	1802	c.1779C>T	c.(1777-1779)acC>acT	p.T593T	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Silent_p.T589T			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	593	SH2.				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGCCAGACATGGTCTTCTTCA	0.602													50	57					0	0	0	0	A	56740685	G	A	56740685	2	1	104	1	0	0	0	0	0	0	0	1	15355	1335	47	4		4	STAT2	12	56740685	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08	6372469	56740685	77111210	120	19963											
ARHGAP9	64333	broad.mit.edu	37	chr12	57868454	57868454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccactgccaagttccCgctcacccgataaatgccat	10	8	7	16	2	1	0	1	0	0	0	2	2	2	1	5	1	2	2	5	1	3	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:57868454C>A	ENST00000393797.2	-	17	2146	c.1954G>T	c.(1954-1956)Ggg>Tgg	p.G652W	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.G562W|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.G641W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.G378W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.G562W|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.G581W			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	581	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GCCAAGTTCCCGCTCACCCGA	0.507													5	109					0.00116845	0.00430572	1	0	A	57868454	C	A	57868454	3	1	104	1	0	0	0	0	1	0	0	0	891	652	23	3	531	3	ARHGAP9	12	57868454	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	1127769	57868454	75983441	121	19964											
PPP1R12A	4659	broad.mit.edu	37	chr12	80211242	80211242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtaacagctacaggagCtgcttgtgtactagaagtgt	10	13	12	6	0	0	1	0	0	0	1	0	2	0	2	0	1	6	6	0	1	5	6			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:80211242C>T	ENST00000450142.2	-	9	1437	c.1171G>A	c.(1171-1173)Gct>Act	p.A391T	PPP1R12A_ENST00000546369.1_Missense_Mutation_p.A304T|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.A391T|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.A391T|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.A391T	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	391						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GCTACAGGAGCTGCTTGTGTA	0.358													6	21					0	0	0	0	T	80211242	C	T	80211242	3	4	104	1	0	0	0	0	1	0	0	0	12430	797	28	4	1989	4	PPP1R12A	12	80211242	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	22342788	80211242	53640653	122	19965											
C12orf42	374470	broad.mit.edu	37	chr12	103695967	103695967	+	Frame_Shift_Del	DEL	T	T	-																															cgccgggttgggcgggggggTgctgaggagcaaacctttat																										TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:103695967delT	ENST00000548048.1	-	9	1297	c.801delA	c.(799-801)gcfs	p.A267fs	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Frame_Shift_Del_p.A334fs|C12orf42_ENST00000548883.1_Frame_Shift_Del_p.A334fs			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	334										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GGCGGGGGGGTGCTGAGGAGC	0.582													14	101	---	---	---	---					-	103695967	T	-	103695967	7	5	104	1	0	1	0	1	0	0	0	0	1700	1683	59	0	84	0	C12orf42	12	103695967	Frame_Shift_Del	DEL	T	TCGA-CN-6988-01A-11D-1912-08	23484725	103695967	30155928	123	19966											
WSCD2	9671	broad.mit.edu	37	chr12	108589613	108589613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccggaatgatcccactatgGccaagctctggttcaaattc	10	11	8	12	1	2	1	1	1	1	0	5	2	4	2	3	3	1	2	3	3	4	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:108589613G>T	ENST00000332082.4	+	3	822	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S	WSCD2_ENST00000261400.3_Missense_Mutation_p.A2S|WSCD2_ENST00000547525.1_Missense_Mutation_p.A2S|WSCD2_ENST00000549903.1_Missense_Mutation_p.A2S			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	2						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TCCCACTATGGCCAAGCTCTG	0.562													13	40					0.00136819	0.00501671	1	0	T	108589613	G	T	108589613	3	4	104	1	0	0	0	0	1	0	0	0	17503	1203	42	4	6	4	WSCD2	12	108589613	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	4893646	108589613	25262282	124	19967											
DYNLL1	8655	broad.mit.edu	37	chr12	120934324	120934324	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgctggagaaatacaacAtagagaaggacattgcggct	15	6	13	7	2	0	2	0	0	0	2	0	5	0	3	0	4	3	2	0	4	5	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:120934324A>G	ENST00000550845.1	+	2	224	c.100A>G	c.(100-102)Ata>Gta	p.I34V	DYNLL1_ENST00000392509.2_Missense_Mutation_p.I34V|DYNLL1_ENST00000548214.1_Missense_Mutation_p.I34V|DYNLL1_ENST00000548342.1_Missense_Mutation_p.I34V|DYNLL1_ENST00000552870.1_Missense_Mutation_p.I34V|DYNLL1_ENST00000550178.1_Missense_Mutation_p.I34V|DYNLL1_ENST00000549989.1_Missense_Mutation_p.I34V|DYNLL1_ENST00000242577.6_Missense_Mutation_p.I34V|DYNLL1_ENST00000392508.2_Missense_Mutation_p.I34V			P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	34					actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAATACAACATAGAGAAGGA	0.577													20	85					0	0	0	0	G	120934324	A	G	120934324	3	3	104	1	0	0	0	0	1	0	0	0	4884	217	8	5	102	5	DYNLL1	12	120934324	Missense_Mutation	SNP	A	TCGA-CN-6988-01A-11D-1912-08	12344711	120934324	12917571	125	19968											
KPNA3	3839	broad.mit.edu	37	chr13	50293956	50293956	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacataaagctggcaaaatCtgaggaaagaaaataaacaa	23	5	7	6	0	1	2	0	1	1	1	1	3	1	3	0	2	2	2	0	2	10	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr13:50293956C>G	ENST00000261667.3	-	10	1141		c.e10-1			NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)						interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTGGCAAAATCTGAGGAAAGA	0.333													17	4					0	0	0	0	G	50293956	C	G	50293956	5	3	104	1	0	0	0	0	0	0	1	0	8483	927	32	2	871	2	KPNA3	13	50293956	Splice_Site	SNP	C	TCGA-CN-6988-01A-11D-1912-08		50293956	64875922	126	19969											
MYO16	23026	broad.mit.edu	37	chr13	109496738	109496738	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaagacagtttgttggaaaAagacattatgttcaaagatg	16	11	10	4	0	1	3	1	0	0	3	1	4	1	4	0	1	0	4	0	1	5	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr13:109496738A>C	ENST00000356711.2	+	10	1205	c.1079A>C	c.(1078-1080)aAa>aCa	p.K360T	MYO16_ENST00000251041.5_Missense_Mutation_p.K360T|MYO16_ENST00000357550.2_Missense_Mutation_p.K360T	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	360					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTGTTGGAAAAAGACATTATG	0.413													9	27					0	0	0	0	C	109496738	A	C	109496738	3	2	104	1	0	0	0	0	1	0	0	0	10134	14	1	5	1113	5	MYO16	13	109496738	Missense_Mutation	SNP	A	TCGA-CN-6988-01A-11D-1912-08	59202782	109496738	5673140	127	19970											
MPP5	64398	broad.mit.edu	37	chr14	67784174	67784175	+	Frame_Shift_Ins	INS	-	-	T																															agaagaggaaaaaggttttaINStataatgccaataaaaatga																										TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr14:67784174_67784175insT	ENST00000261681.4	+	11	2008_2009	c.1347_1348insT	c.(1345-1350)ttataafs	p.L*449fs	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Frame_Shift_Ins_p.L*415fs	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	449					tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AAAAGGTTTTATATAATGCCAA	0.342													12	33	---	---	---	---					T	67784175	-	T	67784174	7	5	104	1	0	1	1	0	0	0	0	0	9807	446	16	0	1381	0	MPP5	14	67784174	Frame_Shift_Ins	INS	-	TCGA-CN-6988-01A-11D-1912-08		67784174	39565366	128	19971											
GABRB3	2562	broad.mit.edu	37	chr15	26812872	26812872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagctcagtgacagtcgagGataggcacctatgggaaaca	15	6	12	8	1	1	1	1	1	0	0	2	4	1	3	1	3	2	2	1	3	4	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:26812872G>T	ENST00000541819.2	-	8	961	c.859C>A	c.(859-861)Cct>Act	p.P287T	GABRB3_ENST00000299267.4_Missense_Mutation_p.P231T|GABRB3_ENST00000311550.5_Missense_Mutation_p.P231T|GABRB3_ENST00000400188.3_Missense_Mutation_p.P160T|GABRB3_ENST00000545868.1_Missense_Mutation_p.P146T			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	231					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	GACAGTCGAGGATAGGCACCT	0.433													12	22					3.27435e-08	1.36339e-07	1	0	T	26812872	G	T	26812872	3	4	104	1	0	0	0	0	1	0	0	0	6216	1174	41	2	742	2	GABRB3	15	26812872	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08		26812872	75718520	129	19972											
VPS39	23339	broad.mit.edu	37	chr15	42465981	42465981	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcttctggcagaagaggtTgaaggcatacaagttcttga	12	10	12	7	1	2	4	0	2	2	2	2	4	2	4	0	3	1	5	0	3	4	5			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:42465981T>G	ENST00000318006.5	-	11	1192	c.1030A>C	c.(1030-1032)Aac>Cac	p.N344H	VPS39_ENST00000348544.4_Missense_Mutation_p.N355H	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	355					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CAGAAGAGGTTGAAGGCATAC	0.408													46	41					0	0	0	0	G	42465981	T	G	42465981	3	3	104	1	0	0	0	0	1	0	0	0	17305	1812	63	5	1657	5	VPS39	15	42465981	Missense_Mutation	SNP	T	TCGA-CN-6988-01A-11D-1912-08	15653109	42465981	60065411	130	19973											
ONECUT1	3175	broad.mit.edu	37	chr15	53081052	53081052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcctccggaaggtctcccGgccggatttgagtttgctcc	5	11	11	14	3	1	1	0	1	1	0	5	3	4	3	5	4	1	2	5	4	1	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:53081052G>A	ENST00000305901.5	-	1	1157	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	344					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		AAGGTCTCCCGGCCGGATTTG	0.672													21	43					0	0	0	0	A	53081052	G	A	53081052	3	1	104	1	0	0	0	0	1	0	0	0	10939	1115	39	1	375	1	ONECUT1	15	53081052	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	10615071	53081052	49450340	131	19974											
MYO1E	4643	broad.mit.edu	37	chr15	59445837	59445837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatccaggctctctggcGtctgtgacactcggtctgaa	8	10	12	11	2	3	2	0	2	3	0	6	3	4	3	1	4	0	1	1	4	2	0			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:59445837G>A	ENST00000288235.4	-	26	3431	c.3032C>T	c.(3031-3033)aCg>aTg	p.T1011M		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	1011					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GCTCTCTGGCGTCTGTGACAC	0.582													29	68					0	0	0	0	A	59445837	G	A	59445837	3	1	104	1	0	0	0	0	1	0	0	0	10142	1145	40	1	306	1	MYO1E	15	59445837	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	6364785	59445837	43085555	132	19975											
HERC1	8925	broad.mit.edu	37	chr15	63950807	63950807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaagaacctgagcagcagCagtcactctccttaaagcca	14	6	8	13	0	2	3	1	1	1	2	3	3	2	3	3	0	5	3	3	0	4	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:63950807C>T	ENST00000443617.2	-	48	9622	c.9535G>A	c.(9535-9537)Gct>Act	p.A3179T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3179					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGAGCAGCAGCAGTCACTCTC	0.493													13	36					0	0	0	0	T	63950807	C	T	63950807	3	4	104	1	0	0	0	0	1	0	0	0	7107	710	25	4	5174	4	HERC1	15	63950807	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	4504970	63950807	38580585	133	19976											
SLCO3A1	28232	broad.mit.edu	37	chr15	92459366	92459366	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgggcaccggccgcgcctGatcggctgcggcggcatcgt	3	5	17	16	9	0	1	0	1	0	0	2	1	0	1	3	5	1	3	3	5	0	0			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:92459366G>T	ENST00000318445.6	+	2	538	c.324G>T	c.(322-324)ctG>ctT	p.L108L	SLCO3A1_ENST00000424469.2_Silent_p.L108L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	108					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.L108L(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCCGCGCCTGATCGGCTGCG	0.682													9	15					7.48243e-07	2.99704e-06	1	0	T	92459366	G	T	92459366	2	4	104	1	0	0	0	0	0	0	0	1	14816	1277	45	2		2	SLCO3A1	15	92459366	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08	28508559	92459366	10072026	134	19977											
ABCA3	21	broad.mit.edu	37	chr16	2339465	2339465	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgacagcggtgcgctcCtcctcgatgagggctccaat	7	9	12	13	3	0	2	0	2	0	0	4	3	3	2	3	2	3	3	3	2	1	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:2339465C>T	ENST00000301732.5	-	20	3370	c.2670G>A	c.(2668-2670)gaG>gaA	p.E890E	ABCA3_ENST00000382381.3_Silent_p.E832E	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	890					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGGTGCGCTCCTCCTCGATGA	0.677													10	4					0	0	0	0	T	2339465	C	T	2339465	2	4	104	1	0	0	0	0	0	0	0	1	33	680	24	4		4	ABCA3	16	2339465	Silent	SNP	C	TCGA-CN-6988-01A-11D-1912-08		2339465	88015288	135	19978											
CREBBP	1387	broad.mit.edu	37	chr16	3900396	3900396	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagcacgctgctcgaggCgccctgcatggctggagtag	7	6	15	13	3	0	0	0	0	0	0	1	2	0	1	2	3	4	6	2	3	1	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:3900396C>G	ENST00000262367.5	-	2	1509	c.700G>C	c.(700-702)Gcc>Ccc	p.A234P	CREBBP_ENST00000382070.3_Missense_Mutation_p.A234P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	234	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGCTCGAGGCGCCCTGCATG	0.622			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						3	62					0	0	0	0	G	3900396	C	G	3900396	3	3	104	1	0	0	0	0	1	0	0	0	3891	768	27	3	6748	3	CREBBP	16	3900396	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	1560931	3900396	86454357	136	19979											
PALB2	79728	broad.mit.edu	37	chr16	23646937	23646937	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgggcagttggccacttttActtatagctttatttacaag	9	16	9	7	0	0	0	0	0	0	0	0	0	0	0	1	2	3	3	1	2	6	9			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:23646937A>G	ENST00000261584.4	-	4	1082	c.930T>C	c.(928-930)agT>agC	p.S310S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	310	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GGCCACTTTTACTTATAGCTT	0.343			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					43	88					0	0	0	0	G	23646937	A	G	23646937	2	3	104	1	0	0	0	0	0	0	0	1	11477	388	14	5		5	PALB2	16	23646937	Silent	SNP	A	TCGA-CN-6988-01A-11D-1912-08	19746541	23646937	66707816	137	19980											
SLC6A2	6530	broad.mit.edu	37	chr16	55730222	55730222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgttgtgtttttcgtcatGctcctggcgctgggccttga	2	16	13	10	2	1	1	1	1	0	0	3	1	2	1	2	2	1	5	2	2	0	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:55730222G>A	ENST00000379906.2	+	8	1488	c.1233G>A	c.(1231-1233)atG>atA	p.M411I	SLC6A2_ENST00000566163.1_Missense_Mutation_p.M366I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.M411I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.M411I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.M306I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.M411I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.M411I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	411					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTTTCGTCATGCTCCTGGCGC	0.542													27	92					0	0	0	0	A	55730222	G	A	55730222	3	1	104	1	0	0	0	0	1	0	0	0	14771	1319	46	4	1354	4	SLC6A2	16	55730222	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	32083285	55730222	34624531	138	19981											
CDH11	1009	broad.mit.edu	37	chr16	65016141	65016141	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	attgctgataaacttcgggtCgatgtgcacgttggctgcct	7	13	12	9	3	0	1	0	1	0	0	2	2	0	1	1	2	4	4	1	2	2	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:65016141C>G	ENST00000394156.3	-	8	1516	c.1063G>C	c.(1063-1065)Gac>Cac	p.D355H	CDH11_ENST00000268603.4_Missense_Mutation_p.D355H|CDH11_ENST00000566827.1_Missense_Mutation_p.D229H			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	355	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AACTTCGGGTCGATGTGCACG	0.468			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			18	78					0	0	0	0	G	65016141	C	G	65016141	3	3	104	1	0	0	0	0	1	0	0	0	3126	884	31	3	1351	3	CDH11	16	65016141	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	9285919	65016141	25338612	139	19982											
ADAMTS18	170692	broad.mit.edu	37	chr16	77327096	77327096	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcggggagggtttctgcGgcagagcccttgcagaggag	6	8	17	10	2	2	2	0	0	2	2	3	4	2	4	1	5	3	3	1	5	0	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:77327096G>C	ENST00000282849.5	-	20	3484	c.3066C>G	c.(3064-3066)gcC>gcG	p.A1022A		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1022	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGTTTCTGCGGCAGAGCCCT	0.557													46	39					0	0	0	0	C	77327096	G	C	77327096	2	2	104	1	0	0	0	0	0	0	0	1	263	1103	39	3		3	ADAMTS18	16	77327096	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08	12310955	77327096	13027657	140	19983											
TP53	7157	broad.mit.edu	37	chr17	7578505	7578515	+	Frame_Shift_Del	DEL	GGGCAGGTCTT	GGGCAGGTCTT	-																															aatcaacccacagctgcacaGggcaggtcttggccagttgg																								rs137852794		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:7578505_7578515delGGGCAGGTCTT	ENST00000420246.2	-	5	547_557	c.415_425delAAGACCTGCCC	c.(415-426)tfs	p.KTCP139fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.KTCP139fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.KTCP139fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.KTCP139fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.KTCP139fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.KTCP139fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	139	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(79)|p.C141R(13)|p.C141W(13)|p.T140I(12)|p.C141*(11)|p.K139N(9)|p.P142L(8)|p.0?(8)|p.K139K(7)|p.T140T(6)|p.C9Y(5)|p.K139E(5)|p.C48Y(5)|p.C141S(5)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.C141F(4)|p.K139fs*9(3)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.P142H(3)|p.K139fs*31(3)|p.C141fs*29(3)|p.K139Q(2)|p.K139R(2)|p.P142F(2)|p.P142A(2)|p.P142T(2)|p.P142S(2)|p.N131fs*27(2)|p.P142fs*28(2)|p.C141fs*8(2)|p.K139*(2)|p.K139T(1)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.V73fs*9(1)|p.K7_T8delKT(1)|p.T140fs*9(1)|p.K46_T47delKT(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*11(1)|p.K139fs*10(1)|p.T140N(1)|p.C48S(1)|p.C48R(1)|p.C48W(1)|p.A138fs*31(1)|p.C9S(1)|p.C42fs*9(1)|p.C9R(1)|p.K46E(1)|p.C9W(1)|p.C135_T140delCQLAKT(1)|p.Q136_K139delQLAK(1)|p.C141A(1)|p.C141G(1)|p.C141_P142insXX(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.C3fs*9(1)|p.K7E(1)|p.T140fs*28(1)|p.T140fs*30(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCTGCACAGGGCAGGTCTTGGCCAGTTGG	0.573		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			32	11	---	---	---	---					-	7578515	GGGCAGGTCTT	-	7578505	7	5	104	1	0	1	0	1	0	0	0	0	16476	1000	35	0	873	0	TP53	17	7578505	Frame_Shift_Del	DEL	GGGCAGGTCTT	TCGA-CN-6988-01A-11D-1912-08		7578505	73616705	141	19984											
TMEM132E	124842	broad.mit.edu	37	chr17	32953598	32953598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgccttccgggatgccCgggaagtcaagagctcctgc	7	8	13	13	2	1	1	1	0	0	1	3	3	3	3	4	2	5	2	4	2	2	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:32953598C>T	ENST00000321639.5	+	2	848	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	174						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCGGGATGCCCGGGAAGTCAA	0.716													15	12					0	0	0	0	T	32953598	C	T	32953598	3	4	104	1	0	0	0	0	1	0	0	0	16142	643	23	1	526	1	TMEM132E	17	32953598	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	25375093	32953598	48241612	142	19985											
ADAM11	4185	broad.mit.edu	37	chr17	42850673	42850673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcatcgtcctggttgccatGgaaacatgggcagatgggga	9	8	15	9	2	0	1	0	0	0	1	2	3	1	3	2	5	2	3	2	5	1	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:42850673G>A	ENST00000200557.6	+	11	1039	c.870G>A	c.(868-870)atG>atA	p.M290I	ADAM11_ENST00000535346.1_Missense_Mutation_p.M90I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	290	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TGGTTGCCATGGAAACATGGG	0.622													25	93					0	0	0	0	A	42850673	G	A	42850673	3	1	104	1	0	0	0	0	1	0	0	0	235	1348	47	4	912	4	ADAM11	17	42850673	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	9897075	42850673	38344537	143	19986											
RAD51C	5889	broad.mit.edu	37	chr17	56770057	56770057	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggatttggtgagtttccCgctgtctccagcggtgcggg	3	11	17	10	4	1	1	0	1	1	0	3	2	2	2	2	4	2	2	2	4	0	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:56770057C>G	ENST00000337432.4	+	1	124	c.53C>G	c.(52-54)cCg>cGg	p.P18R	RAD51C_ENST00000583539.1_Missense_Mutation_p.P18R|RAD51C_ENST00000421782.2_Missense_Mutation_p.P18R|RAD51C_ENST00000487921.1_Intron	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	18					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGAGTTTCCCGCTGTCTCCA	0.602								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				20	68					0	0	0	0	G	56770057	C	G	56770057	3	3	104	1	0	0	0	0	1	0	0	0	13070	652	23	3	55	3	RAD51C	17	56770057	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	13919384	56770057	24425153	144	19987											
MED13	9969	broad.mit.edu	37	chr17	60112835	60112835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatctaccttgaaatgggCtattagactgttgagcaagg	13	12	10	6	0	1	3	0	2	1	1	1	3	1	3	1	2	2	3	1	2	6	6			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:60112835C>T	ENST00000397786.2	-	4	681	c.605G>A	c.(604-606)aGc>aAc	p.S202N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	202					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGAAATGGGCTATTAGACTG	0.338													10	45					0	0	0	0	T	60112835	C	T	60112835	3	4	104	1	0	0	0	0	1	0	0	0	9499	797	28	4	6027	4	MED13	17	60112835	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	3342778	60112835	21082375	145	19988											
POLG2	11232	broad.mit.edu	37	chr17	62492731	62492731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctgctccctgaacaccAccaccgaggtccaccattct	10	8	5	18	1	1	1	0	1	1	0	3	2	3	1	7	1	3	1	7	1	2	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:62492731A>G	ENST00000539111.2	-	1	423	c.356T>C	c.(355-357)gTg>gCg	p.V119A		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	119				WWTSVVVFREQ -> MVDLGGGVHGA (in Ref. 5; AAC51321).	DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCTGAACACCACCACCGAGGT	0.602													28	47					0	0	0	0	G	62492731	A	G	62492731	3	3	104	1	0	0	0	0	1	0	0	0	12273	159	6	5	1133	5	POLG2	17	62492731	Missense_Mutation	SNP	A	TCGA-CN-6988-01A-11D-1912-08	2379896	62492731	18702479	146	19989											
DNAI2	64446	broad.mit.edu	37	chr17	72278070	72278070	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccaaccctgagctggcCgagcagttcgtggagcggaa	9	6	14	12	3	0	1	0	1	0	0	1	4	0	3	3	3	5	3	3	3	2	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:72278070C>A	ENST00000579490.1	+	1	420	c.285C>A	c.(283-285)gcC>gcA	p.A95A	DNAI2_ENST00000311014.6_Silent_p.A38A|DNAI2_ENST00000582036.1_Silent_p.A38A|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000446837.2_Silent_p.A38A			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	38					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGAGCTGGCCGAGCAGTTCG	0.622									Kartagener syndrome				32	185					4.31634e-10	1.87126e-09	1	0	A	72278070	C	A	72278070	2	1	104	1	0	0	0	0	0	0	0	1	4646	639	23	3		3	DNAI2	17	72278070	Silent	SNP	C	TCGA-CN-6988-01A-11D-1912-08	9785339	72278070	8917140	147	19990											
RECQL5	9400	broad.mit.edu	37	chr17	73625498	73625498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtctccatcagttccgtggCcgtctggaacgggcaggagc	6	9	14	12	3	3	0	1	0	2	0	5	2	4	2	3	4	2	2	3	4	1	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:73625498C>T	ENST00000317905.5	-	16	2164	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T	RECQL5_ENST00000423245.2_Missense_Mutation_p.A642T|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	669					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTTCCGTGGCCGTCTGGAAC	0.657								Other identified genes with known or suspected DNA repair function					11	50					0	0	0	0	T	73625498	C	T	73625498	3	4	104	1	0	0	0	0	1	0	0	0	13285	739	26	4	990	4	RECQL5	17	73625498	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	1347428	73625498	7569712	148	19991											
DNAH17	8632	broad.mit.edu	37	chr17	76567831	76567831	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatggtggtttcaatggcGtgcaggagcaagttgtccag	9	11	15	6	1	1	1	1	1	0	0	2	2	2	2	1	4	2	4	1	4	2	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:76567831G>C	ENST00000389840.5	-	4	697	c.573C>G	c.(571-573)caC>caG	p.H191Q	DNAH17_ENST00000585328.1_Missense_Mutation_p.H191Q					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTCAATGGCGTGCAGGAGCA	0.617													19	98					0	0	0	0	C	76567831	G	C	76567831	3	2	104	1	0	0	0	0	1	0	0	0	4638	1136	40	3	13127	3	DNAH17	17	76567831	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	2942333	76567831	4627379	149	19992											
SMCHD1	23347	broad.mit.edu	37	chr18	2706416	2706416	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccaattgcaaagctggatAggacagttgctgagaaagct	13	9	12	7	0	0	1	0	1	0	1	0	4	0	3	1	2	5	5	1	2	4	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:2706416A>G	ENST00000320876.6	+	15	2349	c.2011A>G	c.(2011-2013)Agg>Ggg	p.R671G	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R671G	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	671					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAGCTGGATAGGACAGTTGC	0.333													4	26					0	0	0	0	G	2706416	A	G	2706416	3	3	104	1	0	0	0	0	1	0	0	0	14876	411	15	5	2069	5	SMCHD1	18	2706416	Missense_Mutation	SNP	A	TCGA-CN-6988-01A-11D-1912-08		2706416	75370832	150	19993											
SMCHD1	23347	broad.mit.edu	37	chr18	2738442	2738442	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacacttgctacagggtctGcttcctgatgtgcaagtacc	9	11	10	11	0	1	1	0	1	1	0	2	2	2	1	2	1	6	4	2	1	4	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:2738442G>T	ENST00000320876.6	+	26	3662	c.3324G>T	c.(3322-3324)ctG>ctT	p.L1108L	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.L1108L	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1108					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TACAGGGTCTGCTTCCTGATG	0.373													34	10					8.16721e-17	3.73865e-16	1	0	T	2738442	G	T	2738442	2	4	104	1	0	0	0	0	0	0	0	1	14876	1306	46	4		4	SMCHD1	18	2738442	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08	32026	2738442	75338806	151	19994											
PSMA8	143471	broad.mit.edu	37	chr18	23772351	23772352	+	Frame_Shift_Ins	INS	-	-	A																															aaaaggaagaagcagagaagINSaaaaaatcaaagaaatctgt																										TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:23772351_23772352insA	ENST00000308268.6	+	7	836_837	c.747_748insA	c.(745-750)aaaaaafs	p.KK249fs	PSMA8_ENST00000343848.6_Frame_Shift_Ins_p.KK205fs|PSMA8_ENST00000415576.2_Frame_Shift_Ins_p.KK243fs	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	249					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	p.K249N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			AAGCAGAGAAGAAAAAATCAAA	0.302													10	20	---	---	---	---					A	23772352	-	A	23772351	7	5	104	1	0	1	1	0	0	0	0	0	12752	933	33	0	773	0	PSMA8	18	23772351	Frame_Shift_Ins	INS	-	TCGA-CN-6988-01A-11D-1912-08	21033909	23772351	54304897	152	19995											
HDHD2	84064	broad.mit.edu	37	chr18	44641700	44641700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgtggattgctatcagagGtgctccatccaggagtaacc	9	12	11	9	0	1	1	1	0	0	1	3	3	3	3	3	3	3	3	3	3	2	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:44641700G>T	ENST00000300605.6	-	5	567	c.415C>A	c.(415-417)Cct>Act	p.P139T	HDHD2_ENST00000587841.1_5'UTR	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	139							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						GCTATCAGAGGTGCTCCATCC	0.438													17	25					5.01169e-05	0.000192376	1	0	T	44641700	G	T	44641700	3	4	104	1	0	0	0	0	1	0	0	0	7073	1261	44	4	376	4	HDHD2	18	44641700	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	20869349	44641700	33435548	153	19996											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60025571	60025571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacaaatgcagaccctggaCcaagtaagtaacaacaaagg	18	4	10	9	0	0	1	0	0	0	1	0	3	0	3	2	3	3	3	2	3	6	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:60025571C>T	ENST00000586569.1	+	5	556	c.518C>T	c.(517-519)aCc>aTc	p.T173I	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.T173I	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	173					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AGACCCTGGACCAAGTAAGTA	0.478													21	52					0	0	0	0	T	60025571	C	T	60025571	3	4	104	1	0	0	0	0	1	0	0	0	16378	507	18	4	536	4	TNFRSF11A	18	60025571	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	15383871	60025571	18051677	154	19997											
MUC16	94025	broad.mit.edu	37	chr19	9008172	9008172	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccacatcacagccactcaCcattgacgtagagactgttc	13	8	6	14	1	2	2	2	1	0	1	3	3	2	2	3	0	2	2	3	0	2	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:9008172C>A	ENST00000397910.4	-	41	39583		c.e41+1			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						CAGCCACTCACCATTGACGTA	0.527													57	158					1.87469e-40	9.5286e-40	1	0	A	9008172	C	A	9008172	5	1	104	1	0	0	0	0	0	0	1	0	10043	521	18	4	4319	4	MUC16	19	9008172	Splice_Site	SNP	C	TCGA-CN-6988-01A-11D-1912-08		9008172	50120811	155	19998											
RYR1	6261	broad.mit.edu	37	chr19	38979900	38979900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcactgaggaagaagaggaGgaggacgaggaggaagaggg	15	3	20	3	1	1	4	1	1	0	3	1	11	1	10	0	7	0	0	0	7	3	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:38979900G>T	ENST00000355481.4	+	35	5762	c.5631G>T	c.(5629-5631)gaG>gaT	p.E1877D	RYR1_ENST00000359596.3_Missense_Mutation_p.E1877D|RYR1_ENST00000360985.3_Missense_Mutation_p.E1877D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1877	6 X approximate repeats.|Glu-rich (acidic).				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	aagaagaggaggaggacgagg	0.493													7	20					2.0095e-06	7.87766e-06	1	0	T	38979900	G	T	38979900	3	4	104	1	0	0	0	0	1	0	0	0	13853	991	35	4	5769	4	RYR1	19	38979900	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	29971728	38979900	20149083	156	19999											
EID2B	126272	broad.mit.edu	37	chr19	40023356	40023356	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgccccccgcagtacgtcGctgacgccactcgcggtgcc	5	6	11	19	6	0	1	0	1	0	0	2	1	0	1	5	1	3	3	5	1	1	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:40023356G>A	ENST00000326282.4	-	1	138	c.87C>T	c.(85-87)agC>agT	p.S29S	CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_Intron	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	29					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGTACGTCGCTGACGCCAC	0.706											OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	8					0	0	0	0	A	40023356	G	A	40023356	2	1	104	1	0	0	0	0	0	0	0	1	5024	1078	38	1		1	EID2B	19	40023356	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08	1043456	40023356	19105627	157	20000											
ATP1A3	478	broad.mit.edu	37	chr19	42492178	42492179	+	Frame_Shift_Ins	INS	-	-	C																															tccacagcaggatggagaagINScccccgaagagctgccggca																										TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:42492178_42492179insC	ENST00000545399.1	-	4	458_459	c.305_306insG	c.(304-306)gttfs	p.V102fs	ATP1A3_ENST00000302102.5_Frame_Shift_Ins_p.V89fs|ATP1A3_ENST00000602133.1_Frame_Shift_Ins_p.V59fs|ATP1A3_ENST00000543770.1_Frame_Shift_Ins_p.V100fs	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	89					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGATGGAGAAGCCCCCGAAGAG	0.639													94	66	---	---	---	---					C	42492179	-	C	42492178	7	5	104	1	0	1	1	0	0	0	0	0	1134	958	34	0	2854	0	ATP1A3	19	42492178	Frame_Shift_Ins	INS	-	TCGA-CN-6988-01A-11D-1912-08	2468822	42492178	16636805	158	20001											
GRIK5	2901	broad.mit.edu	37	chr19	42569484	42569484	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctgctcccgggccaaGgccaaggccagacgctcacc	8	6	11	16	2	2	2	1	1	1	1	3	2	3	2	5	3	1	2	5	3	2	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:42569484G>A	ENST00000262895.3	-	2	134	c.135C>T	c.(133-135)gcC>gcT	p.A45A	GRIK5_ENST00000301218.4_Silent_p.A45A|GRIK5_ENST00000593562.1_Silent_p.A45A	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	45						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CCCGGGCCAAGGCCAAGGCCA	0.612													14	34					0	0	0	0	A	42569484	G	A	42569484	2	1	104	1	0	0	0	0	0	0	0	1	6827	987	35	4		4	GRIK5	19	42569484	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08	77306	42569484	16559499	159	20002											
LILRB5	10990	broad.mit.edu	37	chr19	54758761	54758761	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactttgactttagacacagCgggggatgggctgccccctc	7	10	12	12	1	0	2	0	1	0	1	1	3	0	3	2	3	3	1	2	3	2	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:54758761C>G	ENST00000450632.1	-	6	1142	c.1065G>C	c.(1063-1065)ccG>ccC	p.P355P	LILRB5_ENST00000449561.2_Silent_p.P364P|LILRB5_ENST00000345866.6_Silent_p.P264P|LILRB5_ENST00000316219.5_Silent_p.P364P			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	364	Ig-like C2-type 4.			L -> S (in Ref. 2; BAB71361).	cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTAGACACAGCGGGGGATGGG	0.547													36	21					0	0	0	0	G	54758761	C	G	54758761	2	3	104	1	0	0	0	0	0	0	0	1	8848	755	27	3		3	LILRB5	19	54758761	Silent	SNP	C	TCGA-CN-6988-01A-11D-1912-08	12189277	54758761	4370222	160	20003											
ZNF582	147948	broad.mit.edu	37	chr19	56901764	56901764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtgagaccaggttgctgTaggtctccaacatcacgtct	9	10	10	12	1	3	1	1	1	2	1	4	2	3	1	3	2	2	3	3	2	2	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:56901764T>C	ENST00000301310.4	-	3	274	c.116A>G	c.(115-117)tAc>tGc	p.Y39C	ZNF582_ENST00000586929.1_Missense_Mutation_p.Y39C	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CAGGTTGCTGTAGGTCTCCAA	0.493													42	74					0	0	0	0	C	56901764	T	C	56901764	3	2	104	1	0	0	0	0	1	0	0	0	18109	1638	57	5	1449	5	ZNF582	19	56901764	Missense_Mutation	SNP	T	TCGA-CN-6988-01A-11D-1912-08	2143003	56901764	2227219	161	20004											
ZNF667	63934	broad.mit.edu	37	chr19	56953438	56953438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggccttcgcattttcaGggattttctctccagcatga	8	15	8	10	1	2	1	1	1	1	0	5	2	3	2	2	2	1	2	2	2	1	6			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:56953438G>T	ENST00000504904.3	-	7	1645	c.926C>A	c.(925-927)cCt>cAt	p.P309H	ZNF667_ENST00000342634.3_Missense_Mutation_p.P437H|ZNF667_ENST00000292069.6_Missense_Mutation_p.P309H|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CGCATTTTCAGGGATTTTCTC	0.328													26	77					6.07407e-21	2.92588e-20	1	0	T	56953438	G	T	56953438	3	4	104	1	0	0	0	0	1	0	0	0	18169	1000	35	4	910	4	ZNF667	19	56953438	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	51674	56953438	2175545	162	20005											
PEG3	5178	broad.mit.edu	37	chr19	57335898	57335898	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctctgatgaaaaaactcAgagtcagttggaccttctcc	13	10	7	11	0	4	3	2	2	2	1	5	4	4	4	3	1	2	1	3	1	4	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:57335898A>T	ENST00000326441.9	-	4	489	c.126T>A	c.(124-126)tcT>tcA	p.S42S	PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.S42S|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	42					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAAAAAACTCAGAGTCAGTTG	0.483													17	58					0	0	0	0	T	57335898	A	T	57335898	2	4	104	1	0	0	0	0	0	0	0	1	11791	175	7	5		5	PEG3	19	57335898	Silent	SNP	A	TCGA-CN-6988-01A-11D-1912-08	382460	57335898	1793085	163	20006											
AURKC	6795	broad.mit.edu	37	chr19	57746416	57746416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagtgagacttacagacGcatcctcaaggtgggacagt	12	7	11	11	1	1	2	1	1	0	2	2	4	2	3	2	2	1	1	2	2	2	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:57746416G>T	ENST00000302804.7	+	6	935	c.749G>T	c.(748-750)cGc>cTc	p.R250L	AURKC_ENST00000448930.1_Missense_Mutation_p.R216L|AURKC_ENST00000598785.1_Missense_Mutation_p.R216L|AURKC_ENST00000599062.1_Missense_Mutation_p.R247L|AURKC_ENST00000415300.2_Missense_Mutation_p.R231L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	250	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACTTACAGACGCATCCTCAAG	0.552													11	48					4.68919e-08	1.91996e-07	1	0	T	57746416	G	T	57746416	3	4	104	1	0	0	0	0	1	0	0	0	1228	1087	38	3	776	3	AURKC	19	57746416	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	410518	57746416	1382567	164	20007											
ZNF418	147686	broad.mit.edu	37	chr19	58437946	58437946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacattcataaggcctttCtccagtatgaactctccgat	10	13	5	13	1	3	1	1	1	2	0	6	2	4	1	4	1	1	1	4	1	3	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:58437946C>T	ENST00000396147.1	-	4	1894	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	ZNF418_ENST00000599852.1_Missense_Mutation_p.E450K|ZNF418_ENST00000595830.1_Missense_Mutation_p.E535K|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.E556K	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TAAGGCCTTTCTCCAGTATGA	0.448													15	51					0	0	0	0	T	58437946	C	T	58437946	3	4	104	1	0	0	0	0	1	0	0	0	17990	922	32	2	431	2	ZNF418	19	58437946	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	691530	58437946	691037	165	20008											
ZNF135	7694	broad.mit.edu	37	chr19	58578599	58578599	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatgtcacgaatgcttaaaAggcttccggaacagctcggc	12	8	11	10	3	1	0	1	0	0	0	3	3	2	1	1	3	3	3	1	3	5	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:58578599A>G	ENST00000506786.1	+	5	1175	c.621A>G	c.(619-621)aaA>aaG	p.K207K	ZNF135_ENST00000439855.2_Silent_p.K249K|ZNF135_ENST00000359978.6_Silent_p.K261K|ZNF135_ENST00000511556.1_Silent_p.K261K|ZNF135_ENST00000313434.5_Silent_p.K249K|ZNF135_ENST00000401053.4_Silent_p.K273K			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	261					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AATGCTTAAAAGGCTTCCGGA	0.498													3	97					0	0	0	0	G	58578599	A	G	58578599	2	3	104	1	0	0	0	0	0	0	0	1	17820	69	3	5		5	ZNF135	19	58578599	Silent	SNP	A	TCGA-CN-6988-01A-11D-1912-08	140653	58578599	550384	166	20009											
C20orf196	149840	broad.mit.edu	37	chr20	5753649	5753649	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgaggctttcagttctttGgaattccattcttttcctta	7	18	7	9	1	3	0	1	0	2	0	5	2	5	1	2	2	1	2	2	2	2	8			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr20:5753649G>A	ENST00000303142.6	+	2	225	c.138G>A	c.(136-138)ttG>ttA	p.L46L	C20orf196_ENST00000378979.4_Silent_p.L46L	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	46										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						TCAGTTCTTTGGAATTCCATT	0.443													28	121					0	0	0	0	A	5753649	G	A	5753649	2	1	104	1	0	0	0	0	0	0	0	1	2121	1339	47	4		4	C20orf196	20	5753649	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08		5753649	57271871	167	20010											
CSTL1	128817	broad.mit.edu	37	chr20	23420933	23420933	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgctggagaaacccccTgctgctgctgattgccctgg	6	9	13	13	1	0	2	0	1	0	1	0	4	0	3	3	3	6	4	3	3	1	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr20:23420933T>C	ENST00000347397.1	+	2	275	c.29T>C	c.(28-30)cTg>cCg	p.L10P	CSTL1_ENST00000246020.2_Missense_Mutation_p.L10P|CSTL1_ENST00000472140.1_3'UTR	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	10						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					AGAAACCCCCTGCTGCTGCTG	0.552													18	51					0	0	0	0	C	23420933	T	C	23420933	3	2	104	1	0	0	0	0	1	0	0	0	4019	1580	55	5	31	5	CSTL1	20	23420933	Missense_Mutation	SNP	T	TCGA-CN-6988-01A-11D-1912-08	17667284	23420933	39604587	168	20011											
TOX2	84969	broad.mit.edu	37	chr20	42694723	42694723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggtgcagctggcgatGagcccctcacctccagggcc	6	6	12	17	1	1	1	1	1	0	0	3	2	3	1	6	3	3	2	6	3	0	0			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr20:42694723G>T	ENST00000358131.5	+	6	1486	c.1278G>T	c.(1276-1278)atG>atT	p.M426I	TOX2_ENST00000341197.3_Missense_Mutation_p.M444I|TOX2_ENST00000435864.2_Missense_Mutation_p.M322I|TOX2_ENST00000372999.1_Missense_Mutation_p.M402I|TOX2_ENST00000423191.1_Missense_Mutation_p.M402I	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	426	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCTGGCGATGAGCCCCTCAC	0.662													5	19					0.000602214	0.00225295	1	0	T	42694723	G	T	42694723	3	4	104	1	0	0	0	0	1	0	0	0	16473	1290	45	2	1488	2	TOX2	20	42694723	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	19273790	42694723	20330797	169	20012											
NCAM2	4685	broad.mit.edu	37	chr21	22838935	22838935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttcttctagcaatggttGttttgaacaacctggaacca	10	16	7	8	0	2	1	0	1	2	0	2	2	2	2	2	2	4	3	2	2	5	7			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr21:22838935G>T	ENST00000400546.1	+	13	1912	c.1663G>T	c.(1663-1665)Gtt>Ttt	p.V555F	NCAM2_ENST00000284894.7_Missense_Mutation_p.V413F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	555	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGCAATGGTTGTTTTGAACAA	0.294													5	10					1.024e-07	4.16955e-07	1	0	T	22838935	G	T	22838935	3	4	104	1	0	0	0	0	1	0	0	0	10273	1377	48	4	1713	4	NCAM2	21	22838935	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08		22838935	25290960	170	20013											
KRTAP13-4	284827	broad.mit.edu	37	chr21	31803001	31803001	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agattctgctacccaaactaCttggcttctggagcctggca	9	11	9	12	0	2	1	0	0	2	1	2	2	2	2	2	3	5	3	2	3	3	5			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr21:31803001C>A	ENST00000334068.2	+	1	430	c.408C>A	c.(406-408)taC>taA	p.Y136*		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	136						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						ACCCAAACTACTTGGCTTCTG	0.458													38	26					9.85521e-28	4.94101e-27	1	0	A	31803001	C	A	31803001	4	1	104	1	0	0	0	0	0	1	0	0	8577	576	20	4	410	4	KRTAP13-4	21	31803001	Nonsense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	8964066	31803001	16326894	171	20014											
DIP2A	23181	broad.mit.edu	37	chr21	47971570	47971570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaccagcctcaatgatcGtggggaacctggttgctggg	7	10	15	9	1	1	1	1	1	0	0	2	3	1	3	3	5	3	2	3	5	2	2			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr21:47971570G>T	ENST00000318711.7	+	24	3049	c.2866G>T	c.(2866-2868)Gtg>Ttg	p.V956L	DIP2A_ENST00000427143.2_Missense_Mutation_p.V891L|DIP2A_ENST00000417564.2_Missense_Mutation_p.V955L|DIP2A_ENST00000400274.1_Missense_Mutation_p.V951L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	955					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTCAATGATCGTGGGGAACCT	0.507													14	13					1.05317e-09	4.48663e-09	1	0	T	47971570	G	T	47971570	3	4	104	1	0	0	0	0	1	0	0	0	4564	1145	40	3	3039	3	DIP2A	21	47971570	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	16168569	47971570	158325	172	20015											
CECR2	27443	broad.mit.edu	37	chr22	18028225	18028225	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaaaagctgctctgccccaGaggcagaacgttgcaggaaa	13	5	12	11	2	1	2	0	0	1	2	1	4	1	3	2	2	5	5	2	2	4	1			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr22:18028225G>C	ENST00000262608.8	+	16	3185	c.3185G>C	c.(3184-3186)aGa>aCa	p.R1062T	CECR2_ENST00000400585.2_Missense_Mutation_p.R919T|CECR2_ENST00000400573.4_Missense_Mutation_p.R1061T	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1103					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTCTGCCCCAGAGGCAGAACG	0.602													6	22					0	0	0	0	C	18028225	G	C	18028225	3	2	104	1	0	0	0	0	1	0	0	0	3235	942	33	2	3246	2	CECR2	22	18028225	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08		18028225	33276341	173	20016											
USP18	11274	broad.mit.edu	37	chr22	18650683	18650683	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agactgcaggccctgtatacGatccgggtgaaggactcctt	9	9	12	11	2	0	2	0	1	0	1	2	4	2	3	3	3	2	2	3	3	3	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr22:18650683G>A	ENST00000215794.7	+	6	937	c.507G>A	c.(505-507)acG>acA	p.T169T		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	169			T -> M (in dbSNP:rs3180408).		regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						CCCTGTATACGATCCGGGTGA	0.547													35	37					0	0	0	0	A	18650683	G	A	18650683	2	1	104	1	0	0	0	0	0	0	0	1	17145	1045	37	1		1	USP18	22	18650683	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08	622458	18650683	32653883	174	20017											
FRMPD4	9758	broad.mit.edu	37	chrX	12736659	12736659	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacacccgtggagtcgccGctctgcccctccctggggaa	5	6	12	18	3	1	0	0	0	1	0	3	2	2	2	6	3	1	1	6	3	1	0	rs148954983	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:12736659G>T	ENST00000380682.1	+	16	4220	c.3714G>T	c.(3712-3714)ccG>ccT	p.P1238P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1238					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGGAGTCGCCGCTCTGCCCCT	0.602													40	12					3.09479e-21	1.5105e-20	1	0	T	12736659	G	T	12736659	2	4	104	1	0	0	0	0	0	0	0	1	6107	1074	38	3		3	FRMPD4	23	12736659	Silent	SNP	G	TCGA-CN-6988-01A-11D-1912-08		12736659	142533901	175	20018											
PAK3	5063	broad.mit.edu	37	chrX	110435821	110435821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatgagggaaaataagaacCctaatattgttaattattta	17	14	6	4	0	1	2	1	1	0	1	1	3	1	3	1	1	1	1	1	1	9	8			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:110435821C>A	ENST00000519681.1	+	14	1472	c.1030C>A	c.(1030-1032)Cct>Act	p.P344T	PAK3_ENST00000262836.4_Missense_Mutation_p.P338T|PAK3_ENST00000360648.4_Missense_Mutation_p.P359T|PAK3_ENST00000372007.4_Missense_Mutation_p.P323T|PAK3_ENST00000417227.1_Missense_Mutation_p.P344T|PAK3_ENST00000518291.1_Missense_Mutation_p.P359T|PAK3_ENST00000446737.1_Missense_Mutation_p.P323T|PAK3_ENST00000372010.1_Missense_Mutation_p.P338T|PAK3_ENST00000425146.1_Missense_Mutation_p.P323T			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	338	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAATAAGAACCCTAATATTGT	0.313										TSP Lung(19;0.15)			6	6					0.00116845	0.00430572	1	0	A	110435821	C	A	110435821	3	1	104	1	0	0	0	0	1	0	0	0	11473	623	22	4	1117	4	PAK3	23	110435821	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	97699162	110435821	44834739	176	20019											
IGSF1	3547	broad.mit.edu	37	chrX	130409178	130409178	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgttgagtctggcagttcCccttgacactgaagagtcat	10	12	10	9	0	2	4	1	3	1	1	3	4	3	4	2	1	0	3	2	1	2	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:130409178C>G	ENST00000370904.1	-	23	4150	c.3240G>C	c.(3238-3240)ggG>ggC	p.G1080G	IGSF1_ENST00000370903.3_Silent_p.G1094G|IGSF1_ENST00000370910.1_Silent_p.G1080G|IGSF1_ENST00000361420.3_Silent_p.G1089G			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1089	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGGCAGTTCCCCTTGACACT	0.547													102	13					0	0	0	0	G	130409178	C	G	130409178	2	3	104	1	0	0	0	0	0	0	0	1	7649	610	22	4		4	IGSF1	23	130409178	Silent	SNP	C	TCGA-CN-6988-01A-11D-1912-08	19973357	130409178	24861382	177	20020											
USP26	83844	broad.mit.edu	37	chrX	132161248	132161248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acatggtaagagcattaaggGgaattttaccccatgggaaa	15	9	11	6	0	0	1	0	0	0	1	0	3	0	3	2	4	2	2	2	4	5	4			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:132161248G>T	ENST00000511190.1	-	6	1470	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H	USP26_ENST00000370832.1_Missense_Mutation_p.P334H|USP26_ENST00000406273.1_Missense_Mutation_p.P334H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	334					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AGCATTAAGGGGAATTTTACC	0.368													29	4					6.07407e-21	2.92588e-20	1	0	T	132161248	G	T	132161248	3	4	104	1	0	0	0	0	1	0	0	0	17153	1232	43	4	1743	4	USP26	23	132161248	Missense_Mutation	SNP	G	TCGA-CN-6988-01A-11D-1912-08	1752070	132161248	23109312	178	20021											
AFF2	2334	broad.mit.edu	37	chrX	148048568	148048568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccccttctatccagcagCagcactaatgtccggagacc	9	8	8	16	1	1	1	0	0	1	1	3	2	3	1	5	1	4	3	5	1	2	3			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:148048568C>A	ENST00000370460.2	+	14	3641	c.3162C>A	c.(3160-3162)agC>agA	p.S1054R	AFF2_ENST00000370457.5_Missense_Mutation_p.S1019R|AFF2_ENST00000286437.5_Missense_Mutation_p.S695R|AFF2_ENST00000342251.3_Missense_Mutation_p.S1021R	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1054					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TATCCAGCAGCAGCACTAATG	0.527													132	21					7.55469e-51	3.86653e-50	1	0	A	148048568	C	A	148048568	3	1	104	1	0	0	0	0	1	0	0	0	357	709	25	4	3271	4	AFF2	23	148048568	Missense_Mutation	SNP	C	TCGA-CN-6988-01A-11D-1912-08	15887320	148048568	7221992	179	20022											
ACTRT2	140625	broad.mit.edu	37	chr1	2939015	2939015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcatcagcctcggggacccGctgcaccaggcgcccgaggc	7	4	13	17	4	2	0	2	0	0	0	3	2	2	1	4	4	2	2	4	4	0	0	rs145991951		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:2939015G>A	ENST00000378404.2	+	1	970	c.765G>A	c.(763-765)ccG>ccA	p.P255P		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	255						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCGGGGACCCGCTGCACCAGG	0.657													11	62					0	0	0	0	A	2939015	G	A	2939015	2	1	105	1	0	0	0	0	0	0	0	1	219	1074	38	1		1	ACTRT2	1	2939015	Silent	SNP	G	TCGA-CN-6989-01A-11D-1912-08		2939015	246311606	1	20023											
STX12	23673	broad.mit.edu	37	chr1	28144385	28144385	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacattttggatgtcaatcaGatatttaaagatttggccat	13	15	8	5	0	2	2	2	0	0	2	2	4	2	3	1	2	0	0	1	2	4	6			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:28144385G>A	ENST00000373943.4	+	7	725	c.600G>A	c.(598-600)caG>caA	p.Q200Q		NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	200	t-SNARE coiled-coil homology.				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTCAATCAGATATTTAAAG	0.348													6	27					0	0	0	0	A	28144385	G	A	28144385	2	1	105	1	0	0	0	0	0	0	0	1	15428	933	33	2		2	STX12	1	28144385	Silent	SNP	G	TCGA-CN-6989-01A-11D-1912-08	25205370	28144385	221106236	2	20024											
C8A	731	broad.mit.edu	37	chr1	57340684	57340684	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatctgcagtggtgacatCtgggatcaagccagctgctc	9	9	11	12	0	3	1	1	1	2	0	4	2	3	2	2	2	4	3	2	2	1	0			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:57340684C>A	ENST00000361249.3	+	3	330	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	78	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GTGGTGACATCTGGGATCAAG	0.488													16	28					1.15088e-07	1.46239e-07	1	0	A	57340684	C	A	57340684	2	1	105	1	0	0	0	0	0	0	0	1	2439	903	32	2		2	C8A	1	57340684	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08	29196299	57340684	191909937	3	20025											
ZZZ3	26009	broad.mit.edu	37	chr1	78098454	78098454	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagccaaatagcctgtgaTttcttcaactactgcagaat	13	11	7	10	0	2	2	1	1	1	1	2	3	2	2	2	0	5	1	2	0	5	4			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:78098454T>C	ENST00000370801.3	-	5	1061	c.586A>G	c.(586-588)Atc>Gtc	p.I196V	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TAGCCTGTGATTTCTTCAACT	0.398													9	94					0	0	0	0	C	78098454	T	C	78098454	3	2	105	1	0	0	0	0	1	0	0	0	18347	1493	52	5	2169	5	ZZZ3	1	78098454	Missense_Mutation	SNP	T	TCGA-CN-6989-01A-11D-1912-08	20757770	78098454	171152167	4	20026											
NOTCH2	4853	broad.mit.edu	37	chr1	120512221	120512221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaggcgaaggcacaatCatcaatgttctcactgcagt	13	8	10	10	1	3	0	3	0	1	0	4	2	3	1	0	3	1	3	0	3	3	1			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:120512221C>A	ENST00000256646.2	-	6	1240	c.1021G>T	c.(1021-1023)Gat>Tat	p.D341Y		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	341	EGF-like 9; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		AAGGCACAATCATCAATGTTC	0.562			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				14	57					6.31663e-08	8.14893e-08	1	0	A	120512221	C	A	120512221	3	1	105	1	0	0	0	0	1	0	0	0	10618	826	29	2	6510	2	NOTCH2	1	120512221	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	42413767	120512221	128738400	5	20027											
FLG	2312	broad.mit.edu	37	chr1	152282297	152282297	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagtctgtggagctgtctgCtgactgctggtggcgggatc	4	12	17	8	1	2	2	0	2	2	0	3	4	2	4	0	4	3	3	0	4	0	0	rs139417173	by1000genomes	TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:152282297C>G	ENST00000368799.1	-	3	5100	c.5065G>C	c.(5065-5067)Gca>Cca	p.A1689P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1689	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTCTGCTGACTGCTGG	0.572									Ichthyosis				156	410					0	0	0	0	G	152282297	C	G	152282297	3	3	105	1	0	0	0	0	1	0	0	0	5967	797	28	4	7124	4	FLG	1	152282297	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	31770076	152282297	96968324	6	20028											
FLAD1	80308	broad.mit.edu	37	chr1	154961254	154961254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gactgcccgtttgccccaggGatcgctggtcccctacatgc	5	9	11	16	2	0	0	0	0	0	0	2	2	1	1	5	2	4	2	5	2	1	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:154961254G>A	ENST00000368433.1	+	2	1389	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	FLAD1_ENST00000368431.3_Missense_Mutation_p.G250E|FLAD1_ENST00000368432.1_Missense_Mutation_p.G252E|FLAD1_ENST00000315144.10_Missense_Mutation_p.G252E|FLAD1_ENST00000405236.2_Missense_Mutation_p.G250E|FLAD1_ENST00000295530.2_Missense_Mutation_p.G82E|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000292180.3_Missense_Mutation_p.G349E			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	349					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCCCCAGGGATCGCTGGTC	0.562													16	83					0	0	0	0	A	154961254	G	A	154961254	3	1	105	1	0	0	0	0	1	0	0	0	5965	1174	41	2	1127	2	FLAD1	1	154961254	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	2678957	154961254	94289367	7	20029											
NEK2	4751	broad.mit.edu	37	chr1	211843718	211843718	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgattttcccagcgaGttctttctggctaaaagctg	7	16	8	10	1	3	1	0	1	3	0	5	2	4	1	1	1	2	3	1	1	2	6			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:211843718G>C	ENST00000366999.4	-	5	808	c.670C>G	c.(670-672)Ctc>Gtc	p.L224V	NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000366998.3_Missense_Mutation_p.L224V|NEK2_ENST00000540251.1_Missense_Mutation_p.L181V	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	224	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TTCCCAGCGAGTTCTTTCTGG	0.343													19	202					0	0	0	0	C	211843718	G	C	211843718	3	2	105	1	0	0	0	0	1	0	0	0	10394	1029	36	4	683	4	NEK2	1	211843718	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	56882464	211843718	37406903	8	20030											
URB2	9816	broad.mit.edu	37	chr1	229794895	229794895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcaggagggcatttacCtcatcctggacctctgcatc	7	11	10	13	0	2	0	1	0	1	0	4	2	3	2	3	3	4	4	3	3	1	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:229794895C>T	ENST00000258243.2	+	10	4562	c.4426C>T	c.(4426-4428)Ctc>Ttc	p.L1476F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1476						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGGCATTTACCTCATCCTGGA	0.517													54	127					0	0	0	0	T	229794895	C	T	229794895	3	4	105	1	0	0	0	0	1	0	0	0	17121	681	24	4	4460	4	URB2	1	229794895	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	17951177	229794895	19455726	9	20031											
ABHD1	84696	broad.mit.edu	37	chr2	27352690	27352690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggcagcactgactctgtCtgcatgctgggattcctttg	5	13	13	10	0	2	1	0	1	2	0	3	2	3	2	1	3	3	4	1	3	0	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:27352690C>T	ENST00000316470.4	+	6	800	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	229						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGACTCTGTCTGCATGCTGG	0.567													16	81					0	0	0	0	T	27352690	C	T	27352690	3	4	105	1	0	0	0	0	1	0	0	0	73	913	32	2	708	2	ABHD1	2	27352690	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08		27352690	215846683	10	20032											
THADA	63892	broad.mit.edu	37	chr2	43801884	43801884	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcgtaaaagactctcagtCaattccacaaagaaaggatc	18	8	6	9	1	2	2	2	0	1	2	6	3	3	3	1	1	0	1	1	1	6	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:43801884C>T	ENST00000403856.1	-	12	1467	c.1320G>A	c.(1318-1320)ttG>ttA	p.L440L	THADA_ENST00000330266.7_Silent_p.L150L|THADA_ENST00000404790.1_Silent_p.L440L|THADA_ENST00000402360.2_Silent_p.L440L|THADA_ENST00000415080.2_Silent_p.L150L|THADA_ENST00000405975.2_Silent_p.L440L|THADA_ENST00000405006.4_Silent_p.L440L			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	440							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GACTCTCAGTCAATTCCACAA	0.418													34	83					0	0	0	0	T	43801884	C	T	43801884	2	4	105	1	0	0	0	0	0	0	0	1	15934	825	29	2		2	THADA	2	43801884	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08	16449194	43801884	199397489	11	20033											
RANBP2	5903	broad.mit.edu	37	chr2	109382140	109382140	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagcaaggctccaaagagCggatttgagggaatgttcac	14	7	12	8	1	1	2	1	1	0	1	2	4	2	4	1	3	2	3	1	3	4	2	rs139290272	byFrequency	TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:109382140C>T	ENST00000283195.6	+	20	5271	c.5145C>T	c.(5143-5145)agC>agT	p.S1715S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1715					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTCCAAAGAGCGGATTTGAGG	0.428													25	130					0	0	0	0	T	109382140	C	T	109382140	2	4	105	1	0	0	0	0	0	0	0	1	13110	767	27	1		1	RANBP2	2	109382140	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08	65580256	109382140	133817233	12	20034											
WDR33	55339	broad.mit.edu	37	chr2	128471233	128471233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atctccgggcctgcggccttCccatgcccccggagggcctc	3	7	12	19	3	1	0	0	0	1	0	4	1	2	1	7	4	2	0	7	4	0	1			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:128471233C>T	ENST00000322313.4	-	18	3390	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1078					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGCGGCCTTCCCATGCCCCC	0.677													33	128					0	0	0	0	T	128471233	C	T	128471233	3	4	105	1	0	0	0	0	1	0	0	0	17383	864	30	2	798	2	WDR33	2	128471233	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	19089093	128471233	114728140	13	20035											
ZEB2	9839	broad.mit.edu	37	chr2	145147391	145147391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgcgcgcctcgcgctccGccgcttcccgctcctccgcc	0	8	9	24	9	1	0	0	0	1	0	7	0	5	0	7	0	0	3	7	0	0	1			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:145147391G>T	ENST00000558170.2	-	10	4456	c.3272C>A	c.(3271-3273)gCg>gAg	p.A1091E	ZEB2_ENST00000539609.3_Missense_Mutation_p.A1067E|ZEB2_ENST00000409487.3_Missense_Mutation_p.A1091E|ZEB2_ENST00000303660.4_Missense_Mutation_p.A1091E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1091	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTCGCGCTCCGCCGCTTCCCG	0.602													17	91					5.01169e-05	6.04983e-05	1	0	T	145147391	G	T	145147391	3	4	105	1	0	0	0	0	1	0	0	0	17719	1087	38	3	376	3	ZEB2	2	145147391	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	16676158	145147391	98051982	14	20036											
TTN	7273	broad.mit.edu	37	chr2	179669322	179669322	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtactaccctccagtacCacaacgctttgtaacggctg	9	9	9	14	3	0	0	0	0	0	0	1	0	1	0	3	2	5	5	3	2	5	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:179669322C>T	ENST00000589042.1	-	2	272	c.48G>A	c.(46-48)gtG>gtA	p.V16V	TTN_ENST00000360870.5_Silent_p.V16V|TTN_ENST00000591111.1_Silent_p.V16V|TTN_ENST00000460472.2_Silent_p.V16V|TTN_ENST00000359218.5_Silent_p.V16V|TTN_ENST00000342992.6_Silent_p.V16V|TTN_ENST00000342175.6_Silent_p.V16V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16	Ig-like 1.						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)			CCTCCAGTACCACAACGCTTT	0.438													14	59					0	0	0	0	T	179669322	C	T	179669322	2	4	105	1	0	0	0	0	0	0	0	1	16831	581	21	4		4	TTN	2	179669322	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08	34521931	179669322	63530051	15	20037											
NRP2	8828	broad.mit.edu	37	chr2	206562314	206562314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaaagatgctggctatatCacctctcccggttaccccca	9	10	6	16	1	2	1	1	0	1	1	4	1	3	1	5	2	2	3	5	2	4	3			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:206562314C>T	ENST00000360409.3	+	2	911	c.120C>T	c.(118-120)atC>atT	p.I40I	NRP2_ENST00000355117.4_Silent_p.I40I|NRP2_ENST00000272849.3_Silent_p.I40I|NRP2_ENST00000540841.1_Silent_p.I40I|NRP2_ENST00000357785.5_Silent_p.I40I|NRP2_ENST00000540178.1_Silent_p.I40I|NRP2_ENST00000357118.4_Silent_p.I40I|NRP2_ENST00000417189.1_Silent_p.I40I|NRP2_ENST00000412873.2_Silent_p.I40I	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	40	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTGGCTATATCACCTCTCCCG	0.498													62	371					0	0	0	0	T	206562314	C	T	206562314	2	4	105	1	0	0	0	0	0	0	0	1	10732	816	29	2		2	NRP2	2	206562314	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08	26892992	206562314	36637059	16	20038											
CUL3	8452	broad.mit.edu	37	chr2	225376090	225376090	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttctgtctttccatttttCaacatatgtactagcccaga	9	16	4	12	0	3	1	1	0	2	1	4	1	4	1	3	0	3	1	3	0	4	7			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:225376090C>T	ENST00000264414.4	-	6	1202	c.864G>A	c.(862-864)ttG>ttA	p.L288L	CUL3_ENST00000409096.1_Silent_p.L264L|CUL3_ENST00000409777.1_Silent_p.L264L|CUL3_ENST00000344951.4_Silent_p.L222L	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	288					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTCCATTTTTCAACATATGTA	0.338													24	110					0	0	0	0	T	225376090	C	T	225376090	2	4	105	1	0	0	0	0	0	0	0	1	4088	825	29	2		2	CUL3	2	225376090	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08	18813776	225376090	17823283	17	20039											
CUL3	8452	broad.mit.edu	37	chr2	225378279	225378279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catttccaaaaaaggagcctCaaaatcttcttcatagactg	15	11	5	10	0	4	1	2	0	2	1	5	2	5	2	2	1	1	0	2	1	6	4			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:225378279C>G	ENST00000264414.4	-	5	954	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	CUL3_ENST00000409096.1_Missense_Mutation_p.E182Q|CUL3_ENST00000409777.1_Missense_Mutation_p.E182Q|CUL3_ENST00000344951.4_Missense_Mutation_p.E140Q	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	206					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAAGGAGCCTCAAAATCTTCT	0.308													5	24					0	0	0	0	G	225378279	C	G	225378279	3	3	105	1	0	0	0	0	1	0	0	0	4088	835	29	2	1738	2	CUL3	2	225378279	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	2189	225378279	17821094	18	20040											
CNTN6	27255	broad.mit.edu	37	chr3	1367528	1367528	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgggaacagaaaatccaaAatacacacctctctatctat	18	9	4	10	0	2	1	0	0	2	1	4	2	3	2	2	1	2	0	2	1	9	3			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:1367528A>T	ENST00000446702.2	+	9	1603	c.976A>T	c.(976-978)Aat>Tat	p.N326Y	CNTN6_ENST00000539053.1_Missense_Mutation_p.N254Y|CNTN6_ENST00000350110.2_Missense_Mutation_p.N326Y			Q9UQ52	CNTN6_HUMAN	contactin 6	326	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GAAAATCCAAAATACACACCT	0.403													11	40					0	0	0	0	T	1367528	A	T	1367528	3	4	105	1	0	0	0	0	1	0	0	0	3675	14	1	5	1006	5	CNTN6	3	1367528	Missense_Mutation	SNP	A	TCGA-CN-6989-01A-11D-1912-08		1367528	196654902	19	20041											
CCR3	1232	broad.mit.edu	37	chr3	46307687	46307687	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctgtctctccatccacAgcagagccggaactctctat	9	10	7	15	1	3	1	0	0	3	1	7	2	5	2	3	1	4	2	3	1	2	1			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:46307687A>T	ENST00000357422.2	+	4	1581	c.1038A>T	c.(1036-1038)acA>acT	p.T346T	CCR3_ENST00000541018.1_Silent_p.T346T|CCR3_ENST00000395940.2_Silent_p.T346T|CCR3_ENST00000395942.2_Silent_p.T346T|CCR3_ENST00000545097.1_Silent_p.T367T			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	346					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTCCATCCACAGCAGAGCCGG	0.488													14	28					0	0	0	0	T	46307687	A	T	46307687	2	4	105	1	0	0	0	0	0	0	0	1	2971	175	7	5		5	CCR3	3	46307687	Silent	SNP	A	TCGA-CN-6989-01A-11D-1912-08	44940159	46307687	151714743	20	20042											
ATR	545	broad.mit.edu	37	chr3	142176524	142176524	+	Frame_Shift_Del	DEL	A	A	-																															gaaaaagaccctctgttcccAtaggacccattccattaacc																										TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:142176524delA	ENST00000350721.4	-	45	7698	c.7577delT	c.(7576-7578)agfs	p.M2526fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.M2462fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2526	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTCTGTTCCCATAGGACCCAT	0.388								Other conserved DNA damage response genes					10	108	---	---	---	---					-	142176524	A	-	142176524	7	5	105	1	0	1	0	1	0	0	0	0	1208	217	8	0	369	0	ATR	3	142176524	Frame_Shift_Del	DEL	A	TCGA-CN-6989-01A-11D-1912-08	95868837	142176524	55845906	21	20043											
TSC22D2	9819	broad.mit.edu	37	chr3	150128558	150128558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgtgcctcggtcctgccgGggctgggcagccccagtccg	2	6	16	17	4	0	0	0	0	0	0	3	0	2	0	7	4	3	2	7	4	0	0			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:150128558G>A	ENST00000361875.2	+	1	2437	c.1421G>A	c.(1420-1422)gGg>gAg	p.G474E	TSC22D2_ENST00000361136.2_Missense_Mutation_p.G474E	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	474							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGTCCTGCCGGGGCTGGGCAG	0.726													6	44					0	0	0	0	A	150128558	G	A	150128558	3	1	105	1	0	0	0	0	1	0	0	0	16703	1232	43	4	1423	4	TSC22D2	3	150128558	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	7952034	150128558	47893872	22	20044											
MED12L	116931	broad.mit.edu	37	chr3	151101967	151101967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgggggatctgaagaGaacaagcgtgcatacatgaa	13	7	12	9	1	1	3	0	2	1	1	2	5	2	4	2	2	4	1	2	2	5	1			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:151101967G>T	ENST00000474524.1	+	33	4820	c.4782G>T	c.(4780-4782)gaG>gaT	p.E1594D	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.E1454D	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1594					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GATCTGAAGAGAACAAGCGTG	0.378													50	44					6.3237e-29	8.75988e-29	1	0	T	151101967	G	T	151101967	3	4	105	1	0	0	0	0	1	0	0	0	9498	933	33	2	4912	2	MED12L	3	151101967	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	973409	151101967	46920463	23	20045											
SMC4	10051	broad.mit.edu	37	chr3	160150162	160150162	+	Frame_Shift_Del	DEL	A	A	-																															atatgaagatcttcggaaacAaaggcttaatgaatttatgg																										TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:160150162delA	ENST00000357388.3	+	22	3840	c.3389delA	c.(3388-3390)cafs	p.Q1130fs	SMC4_ENST00000462787.1_Frame_Shift_Del_p.Q1072fs|SMC4_ENST00000344722.5_Frame_Shift_Del_p.Q1130fs|SMC4_ENST00000360111.2_Frame_Shift_Del_p.Q1072fs|SMC4_ENST00000469762.1_Frame_Shift_Del_p.Q1105fs|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1130					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTCGGAAACAAAGGCTTAAT	0.348													29	55	---	---	---	---					-	160150162	A	-	160150162	7	5	105	1	0	1	0	1	0	0	0	0	14873	130	5	0	3471	0	SMC4	3	160150162	Frame_Shift_Del	DEL	A	TCGA-CN-6989-01A-11D-1912-08	9048195	160150162	37872268	24	20046											
SI	6476	broad.mit.edu	37	chr3	164737435	164737435	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attccccaagtattccagttCagatctcgcttaaatgctgt	10	14	6	11	1	2	1	1	0	1	1	5	1	4	1	3	0	1	4	3	0	4	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:164737435C>T	ENST00000264382.3	-	28	3440	c.3378G>A	c.(3376-3378)ctG>ctA	p.L1126L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1126	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATTCCAGTTCAGATCTCGCT	0.433										HNSCC(35;0.089)			38	158					0	0	0	0	T	164737435	C	T	164737435	2	4	105	1	0	0	0	0	0	0	0	1	14385	813	29	2		2	SI	3	164737435	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08	4587273	164737435	33284995	25	20047											
SI	6476	broad.mit.edu	37	chr3	164777770	164777770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataattccagcgacttagttGgaatccaagattccaatatg	14	12	7	8	1	0	1	0	0	0	1	3	3	3	2	3	1	1	1	3	1	6	6			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:164777770G>T	ENST00000264382.3	-	10	1128	c.1066C>A	c.(1066-1068)Caa>Aaa	p.Q356K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	356	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CGACTTAGTTGGAATCCAAGA	0.363										HNSCC(35;0.089)			44	420					1.22674e-20	1.67193e-20	1	0	T	164777770	G	T	164777770	3	4	105	1	0	0	0	0	1	0	0	0	14385	1357	47	4	4573	4	SI	3	164777770	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	40335	164777770	33244660	26	20048											
ZNF639	51193	broad.mit.edu	37	chr3	179051488	179051488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaaagtttctctaccaatAtgcttctgatagaacatgcc	13	12	7	9	0	2	2	0	1	2	1	3	3	2	3	2	1	4	2	2	1	6	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:179051488A>G	ENST00000326361.3	+	7	1181	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000484866.1_Missense_Mutation_p.M246V|ZNF639_ENST00000496856.1_Missense_Mutation_p.M246V	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	246					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTCTACCAATATGCTTCTGAT	0.368													46	124					0	0	0	0	G	179051488	A	G	179051488	3	3	105	1	0	0	0	0	1	0	0	0	18151	449	16	5	750	5	ZNF639	3	179051488	Missense_Mutation	SNP	A	TCGA-CN-6989-01A-11D-1912-08	14273718	179051488	18970942	27	20049											
MFN1	55669	broad.mit.edu	37	chr3	179082965	179082965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcctaatattttcattctCaataatcgttgggatgcctc	11	15	6	9	1	2	0	2	0	1	0	5	1	2	1	2	1	2	1	2	1	5	7			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:179082965C>T	ENST00000471841.1	+	7	831	c.705C>T	c.(703-705)ctC>ctT	p.L235L	MFN1_ENST00000280653.7_Silent_p.L235L|MFN1_ENST00000263969.5_Silent_p.L235L	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	235					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTTTCATTCTCAATAATCGTT	0.338													10	164					0	0	0	0	T	179082965	C	T	179082965	2	4	105	1	0	0	0	0	0	0	0	1	9592	813	29	2		2	MFN1	3	179082965	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08	31477	179082965	18939465	28	20050											
UBA6	55236	broad.mit.edu	37	chr4	68499067	68499067	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgcatacttaccttaTggttaaaatatttttcaaac	15	15	3	8	0	1	0	1	0	0	0	1	0	1	0	1	1	4	2	1	1	8	7			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:68499067T>C	ENST00000322244.4	-	23	2197	c.2138A>G	c.(2137-2139)cAt>cGt	p.H713R		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	713					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ACTTACCTTATGGTTAAAATA	0.303													21	58					0	0	0	0	C	68499067	T	C	68499067	3	2	105	1	0	0	0	0	1	0	0	0	16928	1464	51	5	1064	5	UBA6	4	68499067	Missense_Mutation	SNP	T	TCGA-CN-6989-01A-11D-1912-08		68499067	122655209	29	20051											
ODAM	54959	broad.mit.edu	37	chr4	71063726	71063726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggactctcccagttctCtttatcagctctagaccagt	8	13	6	14	0	4	1	1	0	3	1	7	2	5	2	3	1	1	2	3	1	2	4			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:71063726C>A	ENST00000396094.2	+	4	275	c.227C>A	c.(226-228)tCt>tAt	p.S76Y		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	76	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCCCAGTTCTCTTTATCAGCT	0.478													52	141					2.48909e-17	3.36525e-17	1	0	A	71063726	C	A	71063726	3	1	105	1	0	0	0	0	1	0	0	0	10895	913	32	2	241	2	ODAM	4	71063726	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	2564659	71063726	120090550	30	20052											
GRID2	2895	broad.mit.edu	37	chr4	94411922	94411922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tattacacgcattgaaagttCcatccagtaagtaaacaatg	16	11	6	8	1	0	1	0	1	0	0	2	1	2	1	2	0	2	4	2	0	7	6			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:94411922C>T	ENST00000282020.4	+	12	2249	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	GRID2_ENST00000510992.1_Missense_Mutation_p.S569F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	664					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATTGAAAGTTCCATCCAGTAA	0.393													13	45					0	0	0	0	T	94411922	C	T	94411922	3	4	105	1	0	0	0	0	1	0	0	0	6822	855	30	2	2037	2	GRID2	4	94411922	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	23348196	94411922	96742354	31	20053											
USP53	54532	broad.mit.edu	37	chr4	120177469	120177469	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagacatgtgtacctctaaAtcttgtatcactcaccagaa	13	11	6	11	0	4	2	2	0	2	2	4	2	4	2	2	0	1	3	2	0	5	4			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:120177469A>G	ENST00000450251.1	+	4	985	c.441A>G	c.(439-441)aaA>aaG	p.K147K	USP53_ENST00000274030.6_Silent_p.K147K			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	147					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GTACCTCTAAATCTTGTATCA	0.323													5	8					0	0	0	0	G	120177469	A	G	120177469	2	3	105	1	0	0	0	0	0	0	0	1	17180	98	4	5		5	USP53	4	120177469	Silent	SNP	A	TCGA-CN-6989-01A-11D-1912-08	25765547	120177469	70976807	32	20054											
ASB5	140458	broad.mit.edu	37	chr4	177143474	177143474	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtacttacattagctcctGcttccagcagagttctggca	9	12	9	11	0	1	1	0	0	1	1	3	1	3	1	2	2	5	6	2	2	3	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:177143474G>C	ENST00000296525.3	-	3	487	c.374C>G	c.(373-375)gCa>gGa	p.A125G	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Missense_Mutation_p.A72G	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	125					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATTAGCTCCTGCTTCCAGCAG	0.418													6	48					0	0	0	0	C	177143474	G	C	177143474	3	2	105	1	0	0	0	0	1	0	0	0	1030	1319	46	4	635	4	ASB5	4	177143474	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	56966005	177143474	14010802	33	20055											
FAT1	2195	broad.mit.edu	37	chr4	187557927	187557927	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctggcatttctttctcGgtctggcttttcccgctcag	2	16	9	14	3	5	0	1	0	4	0	7	0	6	0	2	3	0	3	2	3	0	4			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:187557927G>A	ENST00000441802.2	-	5	3993	c.3784C>T	c.(3784-3786)Cga>Tga	p.R1262*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1262	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTCTTTCTCGGTCTGGCTTT	0.478										HNSCC(5;0.00058)			119	168					0	0	0	0	A	187557927	G	A	187557927	4	1	105	1	0	0	0	0	0	1	0	0	5734	1124	39	1	10074	1	FAT1	4	187557927	Nonsense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	10414453	187557927	3596349	34	20056											
SEMA5A	9037	broad.mit.edu	37	chr5	9054270	9054270	+	Frame_Shift_Del	DEL	G	G	-																															agatgtcccctccataggccGgggctggattggagcaagag																										TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:9054270delG	ENST00000382496.5	-	19	3283	c.2618delC	c.(2617-2619)cgfs	p.P873fs		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	873	TSP type-1 6.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCCATAGGCCGGGGCTGGATT	0.607													10	66	---	---	---	---					-	9054270	G	-	9054270	7	5	105	1	0	1	0	1	0	0	0	0	14124	1116	39	0	626	0	SEMA5A	5	9054270	Frame_Shift_Del	DEL	G	TCGA-CN-6989-01A-11D-1912-08		9054270	171860990	35	20057											
MRPS30	10884	broad.mit.edu	37	chr5	44813292	44813292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagggaaaggcttttgaGacaaaactgtgctgatcaga	16	8	12	5	0	1	4	1	2	0	3	1	6	1	5	0	2	2	2	0	2	5	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:44813292G>A	ENST00000507110.1	+	4	976	c.938G>A	c.(937-939)aGa>aAa	p.R313K		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	313					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					AGGCTTTTGAGACAAAACTGT	0.393													4	42					0	0	0	0	A	44813292	G	A	44813292	3	1	105	1	0	0	0	0	1	0	0	0	9910	942	33	2	952	2	MRPS30	5	44813292	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	35759022	44813292	136101968	36	20058											
RPS23	6228	broad.mit.edu	37	chr5	81571952	81571952	+	Splice_Site	SNP	G	G	A																															gatcttggtctttccttcttGcctttgtatagggccaaaag																										TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:81571952G>A	ENST00000510019.1	-	4	306	c.232_splice	c.e4-1	p.G78_splice	RPS23_ENST00000507980.1_3'UTR|RPS23_ENST00000296674.8_Silent_p.G136G|RPS23_ENST00000510210.1_Intron|ATG10_ENST00000514253.2_Intron|RPS23_ENST00000512493.1_Intron			P62266	RS23_HUMAN	ribosomal protein S23	78					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			prostate(1)	1		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		TTTCCTTCTTGCCTTTGTATA	0.378													8	67					0	0	0	0	A	81571952	G	A	81571952	5	1	105	1	0	0	0	0	0	0	1	0	13719	1306	46	4	27	4	RPS23	5	81571952	Splice_Site	SNP	G	TCGA-CN-6989-01A-11D-1912-08	36758660	81571952	99343308	37	20059	164	2									
RPS23	6228	broad.mit.edu	37	chr5	81571953	81571953	+	Missense_Mutation	SNP	C	C	T																															atcttggtctttccttcttgCctttgtatagggccaaaaga																										TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:81571953C>T	ENST00000296674.8	-	4	660	c.407G>A	c.(406-408)gGc>gAc	p.G136D	RPS23_ENST00000507980.1_3'UTR|RPS23_ENST00000510019.1_Splice_Site_p.G78_splice|RPS23_ENST00000510210.1_Intron|ATG10_ENST00000514253.2_Intron|RPS23_ENST00000512493.1_Intron	NM_001025.4	NP_001016.1	P62266	RS23_HUMAN	ribosomal protein S23	136					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			prostate(1)	1		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		TTCCTTCTTGCCTTTGTATAG	0.383													8	68					0	0	0	0	T	81571953	C	T	81571953	3	4	105	1	0	0	0	0	1	0	0	0	13719	739	26	4	28	4	RPS23	5	81571953	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	1	81571953	99343307	38	20060	164	2									
PCDHA13	56136	broad.mit.edu	37	chr5	140263131	140263131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctatgaactggtggtgacCgcgcgggacgggggctcgcc	5	6	18	12	5	0	2	0	2	0	0	1	3	0	3	3	5	1	1	3	5	2	1			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:140263131C>T	ENST00000289272.2	+	1	1278	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Silent_p.T426T|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTGACCGCGCGGGACG	0.657													34	157					0	0	0	0	T	140263131	C	T	140263131	2	4	105	1	0	0	0	0	0	0	0	1	11594	639	23	1		1	PCDHA13	5	140263131	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08	58691178	140263131	40652129	39	20061											
TCERG1	10915	broad.mit.edu	37	chr5	145836812	145836812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggtatgatgtttccaccaGgaatgcctcctgtgactgct	7	12	11	11	1	0	2	0	2	0	0	2	3	2	3	4	2	2	3	4	2	2	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:145836812G>A	ENST00000296702.5	+	3	390	c.352G>A	c.(352-354)Gga>Aga	p.G118R	TCERG1_ENST00000394421.2_Missense_Mutation_p.G118R	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	118	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTTCCACCAGGAATGCCTCC	0.453													18	81					0	0	0	0	A	145836812	G	A	145836812	3	1	105	1	0	0	0	0	1	0	0	0	15779	1001	35	4	362	4	TCERG1	5	145836812	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	5573681	145836812	35078448	40	20062											
ADAM19	8728	broad.mit.edu	37	chr5	156934146	156934146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtgccgtggaaggacatgCccctgcaggaggcaaggaga	10	5	17	9	1	0	1	0	0	0	1	0	5	0	4	3	6	3	2	3	6	2	0			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:156934146C>T	ENST00000257527.4	-	10	986	c.908G>A	c.(907-909)gGc>gAc	p.G303D	ADAM19_ENST00000394020.1_Missense_Mutation_p.G305D|ADAM19_ENST00000517905.1_Missense_Mutation_p.G303D|ADAM19_ENST00000430702.2_Missense_Mutation_p.G36D	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	303	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAAGGACATGCCCCTGCAGGA	0.622													4	75					0	0	0	0	T	156934146	C	T	156934146	3	4	105	1	0	0	0	0	1	0	0	0	240	739	26	4	1904	4	ADAM19	5	156934146	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	11097334	156934146	23981114	41	20063											
MAPK9	5601	broad.mit.edu	37	chr5	179669687	179669687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataattcctcacagttggctGaagtttcttcatgaactctg	10	15	7	9	0	4	2	2	2	2	0	5	2	5	2	1	1	1	3	1	1	3	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:179669687G>T	ENST00000452135.2	-	8	1055	c.757C>A	c.(757-759)Cag>Aag	p.Q253K	MAPK9_ENST00000455781.1_Missense_Mutation_p.Q253K|MAPK9_ENST00000393360.3_Missense_Mutation_p.Q253K|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000343111.6_Missense_Mutation_p.Q253K			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	253	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGTTGGCTGAAGTTTCTTC	0.388													5	46					1.23904e-05	1.50646e-05	1	0	T	179669687	G	T	179669687	3	4	105	1	0	0	0	0	1	0	0	0	9356	1299	45	2	542	2	MAPK9	5	179669687	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	22735541	179669687	1245573	42	20064											
DSP	1832	broad.mit.edu	37	chr6	7585963	7585963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacaacatgtcttcggctcCggggtcccgctccggctccc	4	10	10	17	4	1	0	0	0	1	0	6	0	5	0	4	4	2	3	4	4	2	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:7585963C>T	ENST00000379802.3	+	24	8809	c.8468C>T	c.(8467-8469)cCg>cTg	p.P2823L	DSP_ENST00000418664.2_Missense_Mutation_p.P2224L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2823	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTTCGGCTCCGGGGtcccgc	0.632													5	120					0	0	0	0	T	7585963	C	T	7585963	3	4	105	1	0	0	0	0	1	0	0	0	4817	652	23	1	8562	1	DSP	6	7585963	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08		7585963	163529104	43	20065											
EEF1E1	9521	broad.mit.edu	37	chr6	8102741	8102741	+	Missense_Mutation	SNP	G	G	A																															tctccagtagcgacaactctGcggccgccgccatcttccgg																										TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:8102741G>A	ENST00000379715.5	-	1	70	c.14C>T	c.(13-15)gCa>gTa	p.A5V	EEF1E1_ENST00000429723.2_Missense_Mutation_p.A5V|EEF1E1_ENST00000507463.1_Missense_Mutation_p.A5V|EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.A5V	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	5					negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					CGACAACTCTGCGGCCGCCGC	0.607													6	47					0	0	0	0	A	8102741	G	A	8102741	3	1	105	1	0	0	0	0	1	0	0	0	4963	1319	46	4	566	4	EEF1E1	6	8102741	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	516778	8102741	163012326	44	20066	165	2									
EEF1E1	9521	broad.mit.edu	37	chr6	8102742	8102742	+	Missense_Mutation	SNP	C	C	A																															ctccagtagcgacaactctgCggccgccgccatcttccggc																										TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:8102742C>A	ENST00000379715.5	-	1	69	c.13G>T	c.(13-15)Gca>Tca	p.A5S	EEF1E1_ENST00000429723.2_Missense_Mutation_p.A5S|EEF1E1_ENST00000507463.1_Missense_Mutation_p.A5S|EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.A5S	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	5					negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					GACAACTCTGCGGCCGCCGCC	0.602													5	47					2.0095e-06	2.4971e-06	1	0	A	8102742	C	A	8102742	3	1	105	1	0	0	0	0	1	0	0	0	4963	768	27	3	567	3	EEF1E1	6	8102742	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	1	8102742	163012325	45	20067	165	2									
HSP90AB1	3326	broad.mit.edu	37	chr6	44217786	44217786	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attggcaggggtaccaaagtGatcctccatcttaaagaaga	14	9	10	8	0	1	3	0	1	1	2	3	3	3	3	3	3	1	2	3	3	5	3			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:44217786G>A	ENST00000371554.1	+	5	757	c.543G>A	c.(541-543)gtG>gtA	p.V181V	HSP90AB1_ENST00000371646.5_Silent_p.V181V|HSP90AB1_ENST00000353801.3_Silent_p.V181V			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	181					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTACCAAAGTGATCCTCCATC	0.438													23	78					0	0	0	0	A	44217786	G	A	44217786	2	1	105	1	0	0	0	0	0	0	0	1	7454	1277	45	2		2	HSP90AB1	6	44217786	Silent	SNP	G	TCGA-CN-6989-01A-11D-1912-08	36115044	44217786	126897281	46	20068											
CD2AP	23607	broad.mit.edu	37	chr6	47563619	47563619	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaaatcaacactggaacaGaaaccttctaaaccagcagc	19	5	6	11	0	2	1	1	0	1	1	2	3	2	2	2	1	6	1	2	1	7	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:47563619G>A	ENST00000359314.5	+	12	1587	c.1131G>A	c.(1129-1131)caG>caA	p.Q377Q		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	377	Pro-rich.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CACTGGAACAGAAACCTTCTA	0.353													25	190					0	0	0	0	A	47563619	G	A	47563619	2	1	105	1	0	0	0	0	0	0	0	1	3023	933	33	2		2	CD2AP	6	47563619	Silent	SNP	G	TCGA-CN-6989-01A-11D-1912-08	3345833	47563619	123551448	47	20069											
TFAP2B	7021	broad.mit.edu	37	chr6	50810853	50810853	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcgcaggaccggacaccGatagggaacagccgacccag	11	2	14	14	4	0	0	0	0	0	0	0	5	0	3	4	4	2	1	4	4	2	1	rs140849621		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:50810853G>A	ENST00000263046.4	+	8	1324	c.1158G>A	c.(1156-1158)ccG>ccA	p.P386P	TFAP2B_ENST00000393655.3_Silent_p.P377P			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	377				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACCGGACACCGATAGGGAACA	0.592													60	142					0	0	0	0	A	50810853	G	A	50810853	2	1	105	1	0	0	0	0	0	0	0	1	15882	1045	37	1		1	TFAP2B	6	50810853	Silent	SNP	G	TCGA-CN-6989-01A-11D-1912-08	3247234	50810853	120304214	48	20070											
TBL2	26608	broad.mit.edu	37	chr7	72987687	72987687	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgatgacaggcgccttGtgctttttagggaagtcctc	7	13	12	9	2	0	1	0	1	0	0	3	3	1	2	2	2	1	1	2	2	2	4			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:72987687G>A	ENST00000305632.5	-	4	802	c.561C>T	c.(559-561)caC>caT	p.H187H	TBL2_ENST00000452475.1_Silent_p.H187H|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.H151H	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	187										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAGGCGCCTTGTGCTTTTTAG	0.557													28	134					0	0	0	0	A	72987687	G	A	72987687	2	1	105	1	0	0	0	0	0	0	0	1	15736	1368	48	4		4	TBL2	7	72987687	Silent	SNP	G	TCGA-CN-6989-01A-11D-1912-08		72987687	86150976	49	20071											
STEAP4	79689	broad.mit.edu	37	chr7	87913481	87913481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacactggagcattttcaatCccagtgatcttccaaaatca	13	11	5	12	0	3	1	2	1	1	0	5	2	5	2	2	1	1	1	2	1	3	3			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:87913481C>T	ENST00000380079.4	-	2	205	c.104G>A	c.(103-105)gGa>gAa	p.G35E	STEAP4_ENST00000414498.1_Missense_Mutation_p.G35E|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.G35E|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	35					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CATTTTCAATCCCAGTGATCT	0.413													10	100					0	0	0	0	T	87913481	C	T	87913481	3	4	105	1	0	0	0	0	1	0	0	0	15370	855	30	2	1291	2	STEAP4	7	87913481	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	14925794	87913481	71225182	50	20072											
ZAN	7455	broad.mit.edu	37	chr7	100345610	100345611	+	RNA	INS	-	-	AA																															ggcaatagagcaagactctgINSaaaaaaaaaaaaaaagaaag																								rs71686325		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:100345610_100345611insAA	ENST00000542585.1	+	0	1171				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			gcaagactctgaaaaaaaaaaa	0.505													3	3	---	---	---	---					AA	100345611	-	AA	100345610	6	5	105	0	1	1	1	0	0	0	0	0	17609	1305	45	0		0	ZAN	7	100345610	RNA	INS	-	TCGA-CN-6989-01A-11D-1912-08	12432129	100345610	58793053	51	20073											
SRRT	51593	broad.mit.edu	37	chr7	100484783	100484783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggatcatccacgttcGggggcccatgccacccaacc	7	7	11	16	2	1	0	1	0	0	0	3	1	2	1	5	3	2	1	5	3	1	1			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:100484783G>A	ENST00000388793.4	+	15	2154	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q	SRRT_ENST00000432932.1_Missense_Mutation_p.R645Q|SRRT_ENST00000457580.2_Missense_Mutation_p.R646Q|SRRT_ENST00000347433.4_Missense_Mutation_p.R646Q	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	646					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCCACGTTCGGGGGCCCATG	0.602													26	184					0	0	0	0	A	100484783	G	A	100484783	3	1	105	1	0	0	0	0	1	0	0	0	15262	1116	39	1	1991	1	SRRT	7	100484783	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	139173	100484783	58653880	52	20074											
GPR37	2861	broad.mit.edu	37	chr7	124404598	124404598	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctctgagatctgaaggaAgagctggagggccgtggggt	8	8	17	8	1	2	3	0	2	2	2	3	6	3	5	2	5	1	1	2	5	2	0			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:124404598A>T	ENST00000303921.2	-	1	1083	c.433T>A	c.(433-435)Ttc>Atc	p.F145I		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	145						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCTGAAGGAAGAGCTGGAGG	0.627													17	154					0	0	0	0	T	124404598	A	T	124404598	3	4	105	1	0	0	0	0	1	0	0	0	6740	72	3	5	1416	5	GPR37	7	124404598	Missense_Mutation	SNP	A	TCGA-CN-6989-01A-11D-1912-08	23919815	124404598	34734065	53	20075											
TRIM24	8805	broad.mit.edu	37	chr7	138239468	138239468	+	Missense_Mutation	SNP	G	G	T																															ttagtaatcgaggataaagaGagccagccacaaatgcctaa																										TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:138239468G>T	ENST00000343526.4	+	9	1502	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D	TRIM24_ENST00000415680.2_Missense_Mutation_p.E429D|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	429					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGGATAAAGAGAGCCAGCCAC	0.373													10	113					1.58986e-06	1.99027e-06	1	0	T	138239468	G	T	138239468	3	4	105	1	0	0	0	0	1	0	0	0	16593	933	33	2	1321	2	TRIM24	7	138239468	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	13834870	138239468	20899195	54	20076	166	2									
TRIM24	8805	broad.mit.edu	37	chr7	138239469	138239469	+	Missense_Mutation	SNP	A	A	T																															tagtaatcgaggataaagagAgccagccacaaatgcctaag																										TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:138239469A>T	ENST00000343526.4	+	9	1503	c.1288A>T	c.(1288-1290)Agc>Tgc	p.S430C	TRIM24_ENST00000415680.2_Missense_Mutation_p.S430C|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	430					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GGATAAAGAGAGCCAGCCACA	0.373													11	114					0	0	0	0	T	138239469	A	T	138239469	3	4	105	1	0	0	0	0	1	0	0	0	16593	304	11	5	1322	5	TRIM24	7	138239469	Missense_Mutation	SNP	A	TCGA-CN-6989-01A-11D-1912-08	1	138239469	20899194	55	20077	166	2									
SORBS3	10174	broad.mit.edu	37	chr8	22429318	22429318	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcctctcctaacacctctCagatacactggaccccgtga	9	9	5	18	1	2	2	1	1	2	1	5	3	3	3	6	1	2	0	6	1	2	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr8:22429318C>T	ENST00000240123.7	+	19	2214	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	SORBS3_ENST00000428103.1_Nonsense_Mutation_p.Q269*	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	611					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	p.Q611*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TAACACCTCTCAGATACACTG	0.607													12	77					0	0	0	0	T	22429318	C	T	22429318	4	4	105	1	0	0	0	0	0	1	0	0	15017	827	29	2	1901	2	SORBS3	8	22429318	Nonsense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08		22429318	123934704	56	20078											
POTEA	340441	broad.mit.edu	37	chr8	43157231	43157231	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaaactgctgaagattatGcagtttctagtcatcatagt	13	13	8	7	0	3	2	2	1	1	1	3	3	3	2	0	0	3	3	0	0	5	4			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr8:43157231G>C	ENST00000522175.2	+	0	697							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAAGATTATGCAGTTTCTAG	0.294													14	52					0	0	0	0	C	43157231	G	C	43157231	1	2	105	0	1	0	0	0	0	0	0	0	12333	1319	46	4		4	POTEA	8	43157231	RNA	SNP	G	TCGA-CN-6989-01A-11D-1912-08	20727913	43157231	103206791	57	20079											
SNX16	64089	broad.mit.edu	37	chr8	82713776	82713776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacttctgctacttctatctCtgatacagcattttcaggtt	8	17	5	11	0	4	1	1	1	3	0	5	1	4	1	0	1	4	3	0	1	3	8			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr8:82713776C>T	ENST00000396330.2	-	9	1497	c.991G>A	c.(991-993)Gag>Aag	p.E331K	SNX16_ENST00000345957.4_Missense_Mutation_p.E331K|SNX16_ENST00000353788.4_Missense_Mutation_p.E302K|RP13-923O23.6_ENST00000524337.1_RNA	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	331					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						ACTTCTATCTCTGATACAGCA	0.353													5	107					0	0	0	0	T	82713776	C	T	82713776	3	4	105	1	0	0	0	0	1	0	0	0	14975	922	32	2	47	2	SNX16	8	82713776	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	39556545	82713776	63650246	58	20080											
KCNV1	27012	broad.mit.edu	37	chr8	110980374	110980374	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgctctttctctgcctttCagtcgcagcatctccatgat	5	16	6	14	1	4	1	1	1	3	0	7	1	4	1	2	0	3	3	2	0	0	3			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr8:110980374C>T	ENST00000524391.1	-	4	2478	c.1446G>A	c.(1444-1446)ctG>ctA	p.L482L	KCNV1_ENST00000297404.1_Silent_p.L482L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	482						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTCTGCCTTTCAGTCGCAGCA	0.388													10	35					0	0	0	0	T	110980374	C	T	110980374	2	4	105	1	0	0	0	0	0	0	0	1	8147	813	29	2		2	KCNV1	8	110980374	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08	28266598	110980374	35383648	59	20081											
SPTLC1	10558	broad.mit.edu	37	chr9	94794749	94794749	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggtcccgggactctgcctAgagcaggacggcctgggcta	7	7	15	12	2	1	1	0	0	1	1	2	3	2	3	3	5	2	2	3	5	2	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr9:94794749A>G	ENST00000262554.2	-	15	1425	c.1420T>C	c.(1420-1422)Tag>Cag	p.*474Q		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	0						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GACTCTGCCTAGAGCAGGACG	0.582													11	45					0	0	0	0	G	94794749	A	G	94794749	4	3	105	1	0	0	0	0	0	0	0	0	15213	433	15	5	5	5	SPTLC1	9	94794749	Nonstop_Mutation	SNP	A	TCGA-CN-6989-01A-11D-1912-08		94794749	46418682	60	20082											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112898859	112898859	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggcaggcacctcctcaCatcgagctcagtaatagcag	11	6	10	14	2	2	0	2	0	0	0	4	1	3	0	3	2	3	5	3	2	2	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr9:112898859C>T	ENST00000374530.3	+	8	1215	c.1035C>T	c.(1033-1035)caC>caT	p.H345H	PALM2-AKAP2_ENST00000302798.7_Silent_p.H345H|AKAP2_ENST00000374525.1_Silent_p.H203H|AKAP2_ENST00000555236.1_Silent_p.H345H|AKAP2_ENST00000259318.7_Silent_p.H114H|AKAP2_ENST00000510514.5_Silent_p.H345H|AKAP2_ENST00000434623.2_Silent_p.H203H	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		114							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CACCTCCTCACATCGAGCTCA	0.622													9	62					0	0	0	0	T	112898859	C	T	112898859	2	4	105	1	0	0	0	0	0	0	0	1	11481	477	17	4		4	PALM2-AKAP2	9	112898859	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08	18104110	112898859	28314572	61	20083											
NOTCH1	4851	broad.mit.edu	37	chr9	139407980	139407980	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccacccagggtcacagtcGcacttgtacctgcaaggggg	8	7	12	14	1	1	0	1	0	0	0	3	0	2	0	3	3	2	3	3	3	2	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr9:139407980G>T	ENST00000277541.6	-	14	2292	c.2217C>A	c.(2215-2217)tgC>tgA	p.C739*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	739	EGF-like 19; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTCACAGTCGCACTTGTACC	0.612			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			16	9					3.41278e-10	4.50594e-10	1	0	T	139407980	G	T	139407980	4	4	105	1	0	0	0	0	0	1	0	0	10617	1079	38	3	5534	3	NOTCH1	9	139407980	Nonsense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	26509121	139407980	1805451	62	20084											
SLC39A12	221074	broad.mit.edu	37	chr10	18289628	18289628	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttgttagcaatcatgattCtggttggggacagcctgcat	8	13	12	8	0	2	1	1	1	1	0	2	2	2	2	1	3	3	5	1	3	2	4			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr10:18289628C>T	ENST00000377369.2	+	11	1906	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	SLC39A12_ENST00000539911.1_Silent_p.L411L|SLC39A12_ENST00000377371.3_Silent_p.L544L|SLC39A12_ENST00000377374.4_Silent_p.L508L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	545					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AATCATGATTCTGGTTGGGGA	0.423													21	58					0	0	0	0	T	18289628	C	T	18289628	2	4	105	1	0	0	0	0	0	0	0	1	14703	912	32	2		2	SLC39A12	10	18289628	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08		18289628	117245119	63	20085											
OR52K1	390036	broad.mit.edu	37	chr11	4510853	4510853	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcccgctacaaggcatttggGacatgtgtgtctcacatagg	9	10	12	10	1	1	0	1	0	1	0	2	1	1	1	1	3	1	2	1	3	3	3			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:4510853G>A	ENST00000307632.3	+	1	745	c.723G>A	c.(721-723)ggG>ggA	p.G241G		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGCATTTGGGACATGTGTGT	0.537													55	121					0	0	0	0	A	4510853	G	A	4510853	2	1	105	1	0	0	0	0	0	0	0	1	11194	1161	41	2		2	OR52K1	11	4510853	Silent	SNP	G	TCGA-CN-6989-01A-11D-1912-08		4510853	130495663	64	20086											
FNBP4	23360	broad.mit.edu	37	chr11	47741494	47741494	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttacctaaccagctgctGctgtttccactcttcaattc	7	16	4	14	0	2	0	1	0	1	0	4	0	3	0	3	0	5	4	3	0	3	6			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:47741494G>A	ENST00000263773.5	-	16	2962	c.2950C>T	c.(2950-2952)Cag>Tag	p.Q984*		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	984										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ACCAGCTGCTGCTGTTTCCAC	0.443													12	60					0	0	0	0	A	47741494	G	A	47741494	4	1	105	1	0	0	0	0	0	1	0	0	6012	1328	46	4	111	4	FNBP4	11	47741494	Nonsense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	43230641	47741494	87265022	65	20087											
OR5T1	390155	broad.mit.edu	37	chr11	56043788	56043788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagatagtcactatcctgaTtgtcctgatctcctatggtt	8	16	8	9	0	2	3	1	3	1	1	5	4	4	3	3	1	0	1	3	1	3	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:56043788T>C	ENST00000313033.2	+	1	760	c.674T>C	c.(673-675)aTt>aCt	p.I225T		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ACTATCCTGATTGTCCTGATC	0.428													58	131					0	0	0	0	C	56043788	T	C	56043788	3	2	105	1	0	0	0	0	1	0	0	0	11252	1493	52	5	676	5	OR5T1	11	56043788	Missense_Mutation	SNP	T	TCGA-CN-6989-01A-11D-1912-08	8302294	56043788	78962728	66	20088											
CTTN	2017	broad.mit.edu	37	chr11	70275169	70275178	+	Frame_Shift_Del	DEL	CAAGTAACAT	CAAGTAACAT	-																															ctctatagtgaccagcaaaaCaagtaacatcagagctaact																										TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:70275169_70275178delCAAGTAACAT	ENST00000301843.8	+	14	1246_1255	c.1040_1049delCAAGTAACAT	c.(1039-1050)acfs	p.TSNI347fs	CTTN_ENST00000538675.1_Frame_Shift_Del_p.TSNI31fs|CTTN_ENST00000376561.3_Frame_Shift_Del_p.TSNI310fs|CTTN_ENST00000346329.3_Frame_Shift_Del_p.TSNI310fs	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	347						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ACCAGCAAAACAAGTAACATCAGAGCTAAC	0.567													18	1368	---	---	---	---					-	70275178	CAAGTAACAT	-	70275169	7	5	105	1	0	1	0	1	0	0	0	0	4076	478	17	0	1086	0	CTTN	11	70275169	Frame_Shift_Del	DEL	CAAGTAACAT	TCGA-CN-6989-01A-11D-1912-08	14231381	70275169	64731347	67	20089											
SHANK2	22941	broad.mit.edu	37	chr11	70319378	70319378	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggtctctttgttcatctCtgttggcgagaccacagggc	6	12	12	11	1	3	1	1	0	2	1	5	2	3	1	1	3	0	2	1	3	0	3			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:70319378C>G	ENST00000338508.4	-	33	5148	c.5149G>C	c.(5149-5151)Gag>Cag	p.E1717Q	SHANK2_ENST00000449833.2_Missense_Mutation_p.E1121Q|SHANK2_ENST00000423696.2_Missense_Mutation_p.E1337Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.E1120Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1337					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTGTTCATCTCTGTTGGCGAG	0.632													26	420					0	0	0	0	G	70319378	C	G	70319378	3	3	105	1	0	0	0	0	1	0	0	0	14353	922	32	2	407	2	SHANK2	11	70319378	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	44209	70319378	64687138	68	20090											
SHANK2	22941	broad.mit.edu	37	chr11	70332717	70332717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccctgttgagactccttCatggctcggtcccttgcgga	4	12	12	13	2	1	1	1	1	0	1	5	3	4	2	3	4	1	2	3	4	0	3			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:70332717C>A	ENST00000338508.4	-	32	3683	c.3684G>T	c.(3682-3684)atG>atT	p.M1228I	SHANK2_ENST00000449833.2_Missense_Mutation_p.M632I|SHANK2_ENST00000423696.2_Missense_Mutation_p.M848I|SHANK2_ENST00000409161.1_Missense_Mutation_p.M631I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	848					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGACTCCTTCATGGCTCGGT	0.627													25	506					3.01185e-09	3.9154e-09	1	0	A	70332717	C	A	70332717	3	1	105	1	0	0	0	0	1	0	0	0	14353	826	29	2	1876	2	SHANK2	11	70332717	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	13339	70332717	64673799	69	20091											
OR10S1	219873	broad.mit.edu	37	chr11	123847523	123847523	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttgagcattggagttacGattgtgtagaagacagcagg	11	10	16	4	1	0	3	0	1	0	2	0	5	0	4	0	3	3	5	0	3	3	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:123847523G>T	ENST00000531945.1	-	1	965	c.876C>A	c.(874-876)atC>atA	p.I292I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGGAGTTACGATTGTGTAGA	0.537													33	76					2.49991e-28	3.43484e-28	1	0	T	123847523	G	T	123847523	2	4	105	1	0	0	0	0	0	0	0	1	10989	1048	37	3		3	OR10S1	11	123847523	Silent	SNP	G	TCGA-CN-6989-01A-11D-1912-08	53514806	123847523	11158993	70	20092											
ADAMTS8	11095	broad.mit.edu	37	chr11	130281312	130281312	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccctgagtggtaattacCgtcaggggggcattcctccg	6	9	14	12	3	1	1	1	1	0	0	3	1	3	1	4	5	1	2	4	5	2	3			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:130281312C>T	ENST00000257359.6	-	6	2456	c.1750_splice	c.e6+1	p.G584_splice		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	584	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TGGTAATTACCGTCAGGGGGG	0.587													13	30					0	0	0	0	T	130281312	C	T	130281312	5	4	105	1	0	0	0	0	0	0	1	0	272	666	23	1	935	1	ADAMTS8	11	130281312	Splice_Site	SNP	C	TCGA-CN-6989-01A-11D-1912-08	6433789	130281312	4725204	71	20093											
OLR1	4973	broad.mit.edu	37	chr12	10313470	10313470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcccagttaaatgagcccGaggaaaataggtaacagttt	14	11	9	7	1	0	1	0	1	0	0	1	3	1	2	2	2	2	3	2	2	6	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:10313470G>A	ENST00000309539.3	-	4	539	c.479C>T	c.(478-480)tCg>tTg	p.S160L	OLR1_ENST00000432556.2_Intron|OLR1_ENST00000544577.1_Intron|OLR1_ENST00000545927.1_Missense_Mutation_p.S160L|OLR1_ENST00000543993.1_Intron	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	160	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						AAATGAGCCCGAGGAAAATAG	0.428													38	110					0	0	0	0	A	10313470	G	A	10313470	3	1	105	1	0	0	0	0	1	0	0	0	10934	1059	37	1	354	1	OLR1	12	10313470	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08		10313470	123538425	72	20094											
ITPR2	3709	broad.mit.edu	37	chr12	26808652	26808652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaagtacctcaaatgtcaGtttatttttttctttatccc	11	18	3	9	0	3	0	2	0	1	0	4	0	4	0	2	0	1	2	2	0	5	8			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:26808652G>A	ENST00000381340.3	-	20	2994	c.2578C>T	c.(2578-2580)Ctg>Ttg	p.L860L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	860					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCAAATGTCAGTTTATTTTTT	0.313													20	58					0	0	0	0	A	26808652	G	A	26808652	2	1	105	1	0	0	0	0	0	0	0	1	7974	1020	36	4		4	ITPR2	12	26808652	Silent	SNP	G	TCGA-CN-6989-01A-11D-1912-08	16495182	26808652	107043243	73	20095											
SLC4A8	9498	broad.mit.edu	37	chr12	51883736	51883736	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatgacggctatcttaaagGtaatcatcctttcagtcatt	11	15	6	9	1	5	1	4	1	1	0	6	1	6	1	1	2	0	2	1	2	4	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:51883736G>A	ENST00000453097.2	+	19	2917		c.e19+1		SLC4A8_ENST00000358657.3_Splice_Site	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8						bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TATCTTAAAGGTAATCATCCT	0.468													10	64					0	0	0	0	A	51883736	G	A	51883736	5	1	105	1	0	0	0	0	0	0	1	0	14747	1275	44	4	2775	4	SLC4A8	12	51883736	Splice_Site	SNP	G	TCGA-CN-6989-01A-11D-1912-08	25075084	51883736	81968159	74	20096											
SMUG1	23583	broad.mit.edu	37	chr12	54576251	54576251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctcaggctgtccacagaGgttccggaaaaagccccaga	12	5	11	13	1	1	2	1	0	0	2	3	4	3	3	5	3	1	2	5	3	2	1			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:54576251G>T	ENST00000508394.2	-	3	504	c.442C>A	c.(442-444)Ctc>Atc	p.L148I	SMUG1_ENST00000401977.2_Missense_Mutation_p.L148I|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000337581.3_Missense_Mutation_p.L148I|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000505662.1_5'UTR	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	148				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						TGTCCACAGAGGTTCCGGAAA	0.567								Base excision repair (BER), DNA glycosylases					17	109					1.15088e-07	1.46239e-07	1	0	T	54576251	G	T	54576251	3	4	105	1	0	0	0	0	1	0	0	0	14906	1000	35	4	374	4	SMUG1	12	54576251	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	2692515	54576251	79275644	75	20097											
TSPAN19	144448	broad.mit.edu	37	chr12	85421708	85421708	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccatctgatttcgttgtgaAttcctatataacccaataga	12	14	6	9	1	1	3	0	2	1	1	3	3	2	3	3	0	1	1	3	0	6	7			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:85421708A>G	ENST00000532498.2	-	4	313	c.233T>C	c.(232-234)aTt>aCt	p.I78T	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	78						integral to membrane				ovary(1)	1						TTCGTTGTGAATTCCTATATA	0.299													3	13					0	0	0	0	G	85421708	A	G	85421708	3	3	105	1	0	0	0	0	1	0	0	0	16738	101	4	5	537	5	TSPAN19	12	85421708	Missense_Mutation	SNP	A	TCGA-CN-6989-01A-11D-1912-08	30845457	85421708	48430187	76	20098											
TXNRD1	7296	broad.mit.edu	37	chr12	104725379	104725379	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcttgtggcctttctgAggagaaagctgtggagaagt	8	12	16	5	0	1	3	0	1	1	2	1	5	1	3	1	4	2	2	1	4	2	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:104725379A>G	ENST00000526691.1	+	12	1772	c.1316A>G	c.(1315-1317)gAg>gGg	p.E439G	TXNRD1_ENST00000388854.3_Missense_Mutation_p.E439G|TXNRD1_ENST00000542918.1_Missense_Mutation_p.E437G|TXNRD1_ENST00000540716.1_Missense_Mutation_p.E349G|TXNRD1_ENST00000529546.1_Missense_Mutation_p.E349G|TXNRD1_ENST00000526950.1_Missense_Mutation_p.E456G|TXNRD1_ENST00000526390.1_Missense_Mutation_p.E431G|TXNRD1_ENST00000525566.1_Missense_Mutation_p.E537G|TXNRD1_ENST00000524698.1_Missense_Mutation_p.E387G|TXNRD1_ENST00000503506.2_Missense_Mutation_p.E387G|TXNRD1_ENST00000429002.2_Missense_Mutation_p.E537G|TXNRD1_ENST00000427956.1_Missense_Mutation_p.E502G|TXNRD1_ENST00000397736.2_Missense_Mutation_p.E431G|TXNRD1_ENST00000378070.4_Missense_Mutation_p.E486G|TXNRD1_ENST00000354940.6_Missense_Mutation_p.E387G	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	537					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GGCCTTTCTGAGGAGAAAGCT	0.348													4	22					0	0	0	0	G	104725379	A	G	104725379	3	3	105	1	0	0	0	0	1	0	0	0	16903	304	11	5	1678	5	TXNRD1	12	104725379	Missense_Mutation	SNP	A	TCGA-CN-6989-01A-11D-1912-08	19303671	104725379	29126516	77	20099											
RFC5	5985	broad.mit.edu	37	chr12	118467588	118467588	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccctcagttgactttccatCttcagttcgaatacatttat	9	17	4	11	1	3	1	2	1	1	0	6	2	5	1	2	0	1	2	2	0	3	7			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:118467588C>G	ENST00000392542.2	+	11	1354	c.821C>G	c.(820-822)tCt>tGt	p.S274C	RFC5_ENST00000454402.2_Missense_Mutation_p.S295C|RFC5_ENST00000229043.3_Missense_Mutation_p.S210C|RFC5_ENST00000543153.1_3'UTR	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	295					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACTTTCCATCTTCAGTTCGA	0.373													20	101					0	0	0	0	G	118467588	C	G	118467588	3	3	105	1	0	0	0	0	1	0	0	0	13330	913	32	2	928	2	RFC5	12	118467588	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	13742209	118467588	15384307	78	20100											
CLIP1	6249	broad.mit.edu	37	chr12	122839067	122839067	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagcttccaccattgttcGcagctggtccattttggctt	6	14	9	12	1	0	0	0	0	0	0	3	0	2	0	3	2	3	6	3	2	0	6			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:122839067G>A	ENST00000358808.2	-	7	1394	c.1240C>T	c.(1240-1242)Cga>Tga	p.R414*	CLIP1_ENST00000302528.7_Nonsense_Mutation_p.R414*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.R115*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.R414*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.R414*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.R414*	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	414					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ACCATTGTTCGCAGCTGGTCC	0.507													12	60					0	0	0	0	A	122839067	G	A	122839067	4	1	105	1	0	0	0	0	0	1	0	0	3562	1095	38	1	3119	1	CLIP1	12	122839067	Nonsense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	4371479	122839067	11012828	79	20101											
FRY	10129	broad.mit.edu	37	chr13	32798468	32798468	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtactggaggatgctgggCccccctggttgactatctcc	5	12	12	12	0	1	1	0	1	1	0	2	3	1	3	4	4	2	3	4	4	2	4			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr13:32798468C>A	ENST00000380250.3	+	37	5358	c.4862C>A	c.(4861-4863)gCc>gAc	p.A1621D		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGATGCTGGGCCCCCCTGGTT	0.572													26	68					2.44723e-14	3.2824e-14	1	0	A	32798468	C	A	32798468	3	1	105	1	0	0	0	0	1	0	0	0	6111	739	26	4	5008	4	FRY	13	32798468	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08		32798468	82371410	80	20102											
ING1	3621	broad.mit.edu	37	chr13	111371619	111371619	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctacgagcgcttcagtcgCgagacagacggggcgcagaa	10	5	15	11	6	1	3	1	0	0	3	2	5	1	3	0	2	3	3	0	2	2	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr13:111371619C>T	ENST00000375774.3	+	2	1071	c.609C>T	c.(607-609)cgC>cgT	p.R203R	ING1_ENST00000464141.1_3'UTR|ING1_ENST00000333219.7_Silent_p.R60R|ING1_ENST00000375775.3_5'UTR|ING1_ENST00000338450.7_Silent_p.R16R	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	203					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCTTCAGTCGCGAGACAGACG	0.647													13	91					0	0	0	0	T	111371619	C	T	111371619	2	4	105	1	0	0	0	0	0	0	0	1	7788	755	27	1		1	ING1	13	111371619	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08	78573151	111371619	3798259	81	20103											
DHRS7	51635	broad.mit.edu	37	chr14	60622827	60622827	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctcctcaccaattccactCgaggctccagtcacccacac	10	7	5	19	1	2	0	2	0	0	0	6	1	5	0	5	1	1	2	5	1	1	1			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr14:60622827C>T	ENST00000216500.5	-	3	632	c.177G>A	c.(175-177)tcG>tcA	p.S59S	PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Silent_p.S59S|DHRS7_ENST00000536410.2_Silent_p.S9S			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	59							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CAATTCCACTCGAGGCTCCAG	0.448													10	86					0	0	0	0	T	60622827	C	T	60622827	2	4	105	1	0	0	0	0	0	0	0	1	4532	871	31	1		1	DHRS7	14	60622827	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08		60622827	46726713	82	20104											
CILP	8483	broad.mit.edu	37	chr15	65490732	65490732	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctgtggctgtggaaataTtccggggatccaggaaggtc	9	9	15	8	1	0	0	0	0	0	0	3	3	2	3	2	6	1	2	2	6	3	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:65490732T>C	ENST00000261883.4	-	9	2058	c.1892A>G	c.(1891-1893)aAt>aGt	p.N631S		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	631					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTGGAAATATTCCGGGGATC	0.517													51	124					0	0	0	0	C	65490732	T	C	65490732	3	2	105	1	0	0	0	0	1	0	0	0	3458	1493	52	5	1666	5	CILP	15	65490732	Missense_Mutation	SNP	T	TCGA-CN-6989-01A-11D-1912-08		65490732	37040660	83	20105											
C15orf60	283677	broad.mit.edu	37	chr15	73766183	73766183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccctttcaaggtttttgattCcaatgaagaatctggatatc	11	15	7	8	0	2	3	1	2	1	1	4	4	3	4	2	2	0	1	2	2	5	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:73766183C>G	ENST00000331090.6	+	2	198	c.170C>G	c.(169-171)tCc>tGc	p.S57C	C15orf60_ENST00000560581.1_Missense_Mutation_p.S57C	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	57										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GTTTTTGATTCCAATGAAGAA	0.323													5	6					0	0	0	0	G	73766183	C	G	73766183	3	3	105	1	0	0	0	0	1	0	0	0	1820	855	30	2	176	2	C15orf60	15	73766183	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	8275451	73766183	28765209	84	20106											
CSPG4	1464	broad.mit.edu	37	chr15	75981392	75981392	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagagccttgggccagtcGcaaccctgtgctgcggtgga	6	7	16	12	2	0	1	0	0	0	1	1	2	0	2	3	4	4	3	3	4	1	1			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:75981392G>A	ENST00000308508.5	-	3	2106	c.2014C>T	c.(2014-2016)Cga>Tga	p.R672*		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	672	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGGGCCAGTCGCAACCCTGTG	0.672													13	86					0	0	0	0	A	75981392	G	A	75981392	4	1	105	1	0	0	0	0	0	1	0	0	3992	1095	38	1	4986	1	CSPG4	15	75981392	Nonsense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	2215209	75981392	26550000	85	20107											
FSD2	123722	broad.mit.edu	37	chr15	83434772	83434772	+	Frame_Shift_Del	DEL	C	C	-																															cggactcgcaggtcgggatgCccacaacagacctgtacaag																										TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:83434772delC	ENST00000334574.8	-	10	1746	c.1565delG	c.(1564-1566)gcfs	p.G522fs	FSD2_ENST00000541889.1_Frame_Shift_Del_p.G477fs			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	522	Fibronectin type-III 2.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GGTCGGGATGCCCACAACAGA	0.597													2	4	---	---	---	---					-	83434772	C	-	83434772	7	5	105	1	0	1	0	1	0	0	0	0	6119	739	26	0	700	0	FSD2	15	83434772	Frame_Shift_Del	DEL	C	TCGA-CN-6989-01A-11D-1912-08	7453380	83434772	19096620	86	20108											
PEX11A	8800	broad.mit.edu	37	chr15	90226795	90226795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggatgctgcttcagagatCggaataaaagaagtagaaag	17	7	13	4	1	1	3	1	0	0	3	2	7	1	5	0	2	2	3	0	2	6	3			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:90226795C>T	ENST00000300056.3	-	3	706	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.R155Q|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000557982.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	186					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	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)			CTTCAGAGATCGGAATAAAAG	0.473													40	232					0	0	0	0	T	90226795	C	T	90226795	3	4	105	1	0	0	0	0	1	0	0	0	11809	884	31	1	190	1	PEX11A	15	90226795	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	6792023	90226795	12304597	87	20109											
USP31	57478	broad.mit.edu	37	chr16	23117561	23117561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggcagaggaattggcaaaGaaatgcaaaggaaaggatca	18	4	15	4	0	1	2	1	0	0	2	1	5	1	5	0	6	1	3	0	6	5	1			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr16:23117561G>A	ENST00000219689.7	-	4	925	c.926C>T	c.(925-927)tCt>tTt	p.S309F		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	309					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AATTGGCAAAGAAATGCAAAG	0.383													6	42					0	0	0	0	A	23117561	G	A	23117561	3	1	105	1	0	0	0	0	1	0	0	0	17158	942	33	2	3184	2	USP31	16	23117561	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08		23117561	67237192	88	20110											
CDYL2	124359	broad.mit.edu	37	chr16	80654799	80654799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgctgtcgtctgtggctgCgttgcagagcgctcgccgga	3	12	15	11	5	1	1	0	0	1	1	3	2	1	2	1	2	4	5	1	2	0	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr16:80654799C>T	ENST00000299564.8	-	4	1023	c.868G>A	c.(868-870)Gca>Aca	p.A290T	CDYL2_ENST00000562812.1_Missense_Mutation_p.A291T|CDYL2_ENST00000563890.1_Missense_Mutation_p.A291T|CDYL2_ENST00000566173.1_Missense_Mutation_p.A291T	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	290						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCTGTGGCTGCGTTGCAGAGC	0.557													9	40					0	0	0	0	T	80654799	C	T	80654799	3	4	105	1	0	0	0	0	1	0	0	0	3215	768	27	1	668	1	CDYL2	16	80654799	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	57537238	80654799	9699954	89	20111											
TP53	7157	broad.mit.edu	37	chr17	7577516	7577517	+	Frame_Shift_Ins	INS	-	-	A																															acctggagtcttccagtgtgINSatgatggtgaggatgggcct																										TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:7577516_7577517insA	ENST00000420246.2	-	7	896_897	c.764_765insT	c.(763-765)aacfs	p.N255fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.N255fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.N255fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.N255fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.N255fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.N255fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	255	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I255S(10)|p.0?(8)|p.I255del(7)|p.I255N(7)|p.I255T(7)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.I255M(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*17(1)|p.T256del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTCCAGTGTGATGATGGTGAG	0.584		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			38	63	---	---	---	---					A	7577517	-	A	7577516	7	5	105	1	0	1	1	0	0	0	0	0	16476	1280	45	0	525	0	TP53	17	7577516	Frame_Shift_Ins	INS	-	TCGA-CN-6989-01A-11D-1912-08		7577516	73617694	90	20112											
NF1	4763	broad.mit.edu	37	chr17	29586061	29586061	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgtgtagatacttcagagTattgccaatcatgttctctt	10	17	7	7	0	3	2	2	0	1	2	4	2	3	2	1	0	2	3	1	0	4	8			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:29586061T>A	ENST00000358273.4	+	33	4727	c.4344T>A	c.(4342-4344)agT>agA	p.S1448R	NF1_ENST00000356175.3_Missense_Mutation_p.S1427R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1448	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TACTTCAGAGTATTGCCAATC	0.313			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	14					0	0	0	0	A	29586061	T	A	29586061	3	1	105	1	0	0	0	0	1	0	0	0	10426	1635	57	5	4535	5	NF1	17	29586061	Missense_Mutation	SNP	T	TCGA-CN-6989-01A-11D-1912-08	22008545	29586061	51609149	91	20113											
LRRC37B	114659	broad.mit.edu	37	chr17	30349724	30349724	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcctccacaagcaccaacaTatgtgagctctgcacctgcg	10	7	9	15	1	1	1	0	1	1	0	2	1	2	1	4	1	5	3	4	1	3	1			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:30349724T>G	ENST00000327564.7	+	1	1701	c.1640T>G	c.(1639-1641)aTa>aGa	p.I547R	LRRC37B_ENST00000543378.2_Missense_Mutation_p.I438R|LRRC37B_ENST00000394713.3_Missense_Mutation_p.I520R|LRRC37B_ENST00000584368.1_Missense_Mutation_p.I532R|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000341671.7_Missense_Mutation_p.I520R			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	520						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGCACCAACATATGTGAGCTC	0.537													57	164					0	0	0	0	G	30349724	T	G	30349724	3	3	105	1	0	0	0	0	1	0	0	0	9058	1406	49	5	1561	5	LRRC37B	17	30349724	Missense_Mutation	SNP	T	TCGA-CN-6989-01A-11D-1912-08	763663	30349724	50845486	92	20114											
UBTF	7343	broad.mit.edu	37	chr17	42288993	42288993	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgatcacacttcttgtgaTaggcgtccttctccttctgg	5	15	8	13	1	4	2	1	2	3	0	6	2	5	2	3	2	0	0	3	2	1	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:42288993T>C	ENST00000302904.4	-	10	1520	c.1028A>G	c.(1027-1029)tAt>tGt	p.Y343C	UBTF_ENST00000527034.1_Missense_Mutation_p.Y306C|UBTF_ENST00000343638.5_Missense_Mutation_p.Y306C|UBTF_ENST00000529383.1_Missense_Mutation_p.Y343C|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.Y306C|UBTF_ENST00000526094.1_Missense_Mutation_p.Y306C|UBTF_ENST00000436088.1_Missense_Mutation_p.Y343C|UBTF_ENST00000393606.3_Missense_Mutation_p.Y306C			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	343					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTCTTGTGATAGGCGTCCTT	0.587													31	134					0	0	0	0	C	42288993	T	C	42288993	3	2	105	1	0	0	0	0	1	0	0	0	17005	1406	49	5	1314	5	UBTF	17	42288993	Missense_Mutation	SNP	T	TCGA-CN-6989-01A-11D-1912-08	11939269	42288993	38906217	93	20115											
LRRC37A2	474170	broad.mit.edu	37	chr17	44626341	44626341	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagacttaacccacgctaTttccattttagaaagtgcaa	15	11	6	9	1	0	2	0	0	0	2	1	3	1	2	2	0	2	2	2	0	6	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:44626341T>C	ENST00000576629.1	+	10	4331	c.3836T>C	c.(3835-3837)aTt>aCt	p.I1279T	ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.I1279T|ARL17A_ENST00000329240.4_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1279						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		ACCCACGCTATTTCCATTTTA	0.468													18	96					0	0	0	0	C	44626341	T	C	44626341	3	2	105	1	0	0	0	0	1	0	0	0	9056	1493	52	5	3870	5	LRRC37A2	17	44626341	Missense_Mutation	SNP	T	TCGA-CN-6989-01A-11D-1912-08	2337348	44626341	36568869	94	20116											
AKAP1	8165	broad.mit.edu	37	chr17	55196358	55196358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcaggtgacaagttacagtCcaactggtcttcctctgatt	9	14	8	10	0	3	2	1	2	2	0	5	2	5	2	2	2	2	1	2	2	3	4			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:55196358C>T	ENST00000337714.3	+	10	2823	c.2590C>T	c.(2590-2592)Cca>Tca	p.P864S	AKAP1_ENST00000572557.1_Missense_Mutation_p.P864S|AKAP1_ENST00000539273.1_Missense_Mutation_p.P864S|AKAP1_ENST00000571629.1_Missense_Mutation_p.P864S	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	864					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AAGTTACAGTCCAACTGGTCT	0.443													70	261					0	0	0	0	T	55196358	C	T	55196358	3	4	105	1	0	0	0	0	1	0	0	0	445	855	30	2	2624	2	AKAP1	17	55196358	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	10570017	55196358	25998852	95	20117											
FAM20A	54757	broad.mit.edu	37	chr17	66536060	66536060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtgaataaggaacccatCatccccgaacttggtgaaca	15	7	9	10	1	1	2	1	2	0	0	2	4	2	3	3	3	3	0	3	3	6	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:66536060C>T	ENST00000592554.1	-	9	1989	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	423						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					AGGAACCCATCATCCCCGAAC	0.567													8	49					0	0	0	0	T	66536060	C	T	66536060	3	4	105	1	0	0	0	0	1	0	0	0	5580	826	29	2	370	2	FAM20A	17	66536060	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	11339702	66536060	14659150	96	20118											
SMCHD1	23347	broad.mit.edu	37	chr18	2673310	2673310	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcggaattaattgacaattCattgtctgctacttctcgta	10	16	7	8	2	3	1	1	1	2	0	4	2	3	2	0	1	3	2	0	1	5	7			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr18:2673310C>G	ENST00000320876.6	+	4	793	c.455C>G	c.(454-456)tCa>tGa	p.S152*	SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.S152*	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	152					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATTGACAATTCATTGTCTGCT	0.328													8	22					0	0	0	0	G	2673310	C	G	2673310	4	3	105	1	0	0	0	0	0	1	0	0	14876	838	29	2	469	2	SMCHD1	18	2673310	Nonsense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08		2673310	75403938	97	20119											
CDH2	1000	broad.mit.edu	37	chr18	25532209	25532209	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcctgctcaccaccactacTtgaggaattaagggagctca	11	9	9	12	0	2	1	2	1	0	0	3	3	3	3	3	2	3	2	3	2	3	3			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr18:25532209T>G	ENST00000269141.3	-	16	3052	c.2629A>C	c.(2629-2631)Agt>Cgt	p.S877R	CDH2_ENST00000399380.3_Missense_Mutation_p.S846R	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	877	Ser-rich.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCACCACTACTTGAGGAATTA	0.507											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	95					0	0	0	0	G	25532209	T	G	25532209	3	3	105	1	0	0	0	0	1	0	0	0	3134	1609	56	5	95	5	CDH2	18	25532209	Missense_Mutation	SNP	T	TCGA-CN-6989-01A-11D-1912-08	22858899	25532209	52545039	98	20120											
NOL4	8715	broad.mit.edu	37	chr18	31538215	31538215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactcacattaaaagctttCagccgctcggcttcaacgcc	10	9	8	14	3	3	0	3	0	0	0	4	1	3	1	2	2	3	3	2	2	3	3			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr18:31538215C>T	ENST00000261592.5	-	7	1521	c.1224G>A	c.(1222-1224)ctG>ctA	p.L408L	NOL4_ENST00000589544.1_Silent_p.L408L|NOL4_ENST00000269185.4_Silent_p.L294L|NOL4_ENST00000535475.1_Silent_p.L253L|NOL4_ENST00000535384.1_Silent_p.L123L|NOL4_ENST00000538587.1_Silent_p.L334L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	408						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TAAAAGCTTTCAGCCGCTCGG	0.448													40	85					0	0	0	0	T	31538215	C	T	31538215	2	4	105	1	0	0	0	0	0	0	0	1	10594	813	29	2		2	NOL4	18	31538215	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08	6006006	31538215	46539033	99	20121											
MEX3D	399664	broad.mit.edu	37	chr19	1556787	1556787	+	Missense_Mutation	SNP	G	G	T																															ggatgatggagaagtgttcgGccgccgacaggatctcacgc																										TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:1556787G>T	ENST00000402693.4	-	2	730	c.731C>A	c.(730-732)gCc>gAc	p.A244D	MEX3D_ENST00000388824.6_Missense_Mutation_p.A244D	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	244					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		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)		GAAGTGTTCGGCCGCCGACAG	0.687													19	49					3.51602e-12	4.67879e-12	1	0	T	1556787	G	T	1556787	3	4	105	1	0	0	0	0	1	0	0	0	9581	1203	42	4	1291	4	MEX3D	19	1556787	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08		1556787	57572196	100	20122	167	2									
MEX3D	399664	broad.mit.edu	37	chr19	1556788	1556788	+	Missense_Mutation	SNP	C	C	T																															gatgatggagaagtgttcggCcgccgacaggatctcacgct																										TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:1556788C>T	ENST00000402693.4	-	2	729	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	MEX3D_ENST00000388824.6_Missense_Mutation_p.A244T	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	244					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		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)		AAGTGTTCGGCCGCCGACAGG	0.687													18	52					0	0	0	0	T	1556788	C	T	1556788	3	4	105	1	0	0	0	0	1	0	0	0	9581	739	26	4	1292	4	MEX3D	19	1556788	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	1	1556788	57572195	101	20123	167	2									
OR2Z1	284383	broad.mit.edu	37	chr19	8841649	8841649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatggcatcagactttctgCggggagaaggtgccacctcc	9	8	13	11	1	2	3	1	0	1	3	3	4	3	3	3	4	2	1	3	4	1	1			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:8841649C>T	ENST00000324060.2	+	1	334	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGACTTTCTGCGGGGAGAAGG	0.552													19	74					0	0	0	0	T	8841649	C	T	8841649	3	4	105	1	0	0	0	0	1	0	0	0	11107	759	27	1	261	1	OR2Z1	19	8841649	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	7284861	8841649	50287334	102	20124											
ANGPTL6	83854	broad.mit.edu	37	chr19	10203335	10203335	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccacgaaactcagccCagtagacaccatcctggtag	12	5	7	17	1	1	1	1	0	0	1	2	2	2	1	6	1	2	2	6	1	3	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:10203335C>G	ENST00000253109.4	-	6	1581	c.1343G>C	c.(1342-1344)tGg>tCg	p.W448S	C19orf66_ENST00000397881.3_3'UTR|C19orf66_ENST00000253110.11_3'UTR|C19orf66_ENST00000591813.1_3'UTR|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.W408S|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.W448S	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	448	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			AAACTCAGCCCAGTAGACACC	0.617													28	83					0	0	0	0	G	10203335	C	G	10203335	3	3	105	1	0	0	0	0	1	0	0	0	618	595	21	4	73	4	ANGPTL6	19	10203335	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	1361686	10203335	48925648	103	20125											
ZNF208	7757	broad.mit.edu	37	chr19	22157159	22157159	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttacatctgtagggtttcTctccagtatgagcactctta	8	16	7	10	0	3	1	0	1	3	0	5	1	4	1	1	1	2	4	1	1	4	6			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:22157159T>C	ENST00000397126.4	-	4	825	c.677A>G	c.(676-678)gAg>gGg	p.E226G	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTAGGGTTTCTCTCCAGTATG	0.358													15	57					0	0	0	0	C	22157159	T	C	22157159	3	2	105	1	0	0	0	0	1	0	0	0	17861	1551	54	5	3169	5	ZNF208	19	22157159	Missense_Mutation	SNP	T	TCGA-CN-6989-01A-11D-1912-08	11953824	22157159	36971824	104	20126											
DPY19L3	147991	broad.mit.edu	37	chr19	32930743	32930743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtctgacatggcaatttaAtcaatttatgatgctgatgc	12	15	8	6	0	2	3	1	3	1	0	2	3	2	3	0	1	2	2	0	1	5	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:32930743A>G	ENST00000342179.5	+	8	997	c.782A>G	c.(781-783)aAt>aGt	p.N261S	DPY19L3_ENST00000392250.2_Missense_Mutation_p.N261S|DPY19L3_ENST00000586987.1_Missense_Mutation_p.N261S	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	261						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TGGCAATTTAATCAATTTATG	0.388													28	49					0	0	0	0	G	32930743	A	G	32930743	3	3	105	1	0	0	0	0	1	0	0	0	4778	101	4	5	808	5	DPY19L3	19	32930743	Missense_Mutation	SNP	A	TCGA-CN-6989-01A-11D-1912-08	10773584	32930743	26198240	105	20127											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56734095	56734095	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgtcaatactcttgtgtaGcagaaagtcctctccctgaa	11	12	7	11	1	3	2	1	1	2	1	5	2	4	2	2	0	3	2	2	0	6	4			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:56734095G>A	ENST00000587340.1	-	6	1299	c.604C>T	c.(604-606)Cta>Tta	p.L202L	ZSCAN5A_ENST00000254165.3_Silent_p.L85L|ZSCAN5A_ENST00000592355.1_Silent_p.L202L|ZSCAN5A_ENST00000587492.1_Silent_p.L56L|ZSCAN5A_ENST00000391713.1_Silent_p.L202L			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	202					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCTTGTGTAGCAGAAAGTCC	0.488													17	68					0	0	0	0	A	56734095	G	A	56734095	2	1	105	1	0	0	0	0	0	0	0	1	18329	962	34	4		4	ZSCAN5A	19	56734095	Silent	SNP	G	TCGA-CN-6989-01A-11D-1912-08	23803352	56734095	2394888	106	20128											
C20orf26	26074	broad.mit.edu	37	chr20	20054956	20054956	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctgcagcccctgaataCgttgttcatgcacctctttg	6	15	7	13	1	4	1	1	1	3	0	4	1	4	1	3	0	4	4	3	0	2	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:20054956C>G	ENST00000245957.5	+	4	381	c.305C>G	c.(304-306)aCg>aGg	p.T102R	C20orf26_ENST00000451767.2_Missense_Mutation_p.T102R|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.T102R|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	102										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCCCTGAATACGTTGTTCATG	0.512													33	113					0	0	0	0	G	20054956	C	G	20054956	3	3	105	1	0	0	0	0	1	0	0	0	2126	536	19	3	315	3	C20orf26	20	20054956	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08		20054956	42970564	107	20129											
CST1	1469	broad.mit.edu	37	chr20	23731396	23731396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactcatcattgaggtctgcGttatagatgccacccgggat	9	11	10	11	2	3	2	2	1	1	1	3	3	3	3	2	2	2	1	2	2	2	3	rs143815991		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:23731396G>T	ENST00000304749.2	-	1	178	c.108C>A	c.(106-108)aaC>aaA	p.N36K	CST1_ENST00000398402.1_Missense_Mutation_p.N36K	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	36						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TGAGGTCTGCGTTATAGATGC	0.572													7	63					1.12685e-05	1.37998e-05	1	0	T	23731396	G	T	23731396	3	4	105	1	0	0	0	0	1	0	0	0	4002	1136	40	3	329	3	CST1	20	23731396	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	3676440	23731396	39294124	108	20130											
NEURL2	140825	broad.mit.edu	37	chr20	44519120	44519120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatagagctggtccaagaGatggctgtagagccctggcc	9	8	13	11	0	1	3	1	0	0	3	2	4	2	3	3	3	2	3	3	3	3	2			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:44519120G>C	ENST00000372518.4	-	1	806	c.511C>G	c.(511-513)Ctc>Gtc	p.L171V		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	171	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGGTCCAAGAGATGGCTGTAG	0.657											OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	77					0	0	0	0	C	44519120	G	C	44519120	3	2	105	1	0	0	0	0	1	0	0	0	10416	942	33	2	354	2	NEURL2	20	44519120	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	20787724	44519120	18506400	109	20131											
CSE1L	1434	broad.mit.edu	37	chr20	47704564	47704564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctatcatgagaagtttttCtctcctacaagaagccataa	14	12	6	9	0	2	2	1	1	1	2	4	3	3	2	2	0	3	2	2	0	6	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:47704564C>A	ENST00000262982.2	+	17	1865	c.1742C>A	c.(1741-1743)tCt>tAt	p.S581Y	CSE1L_ENST00000542325.1_Missense_Mutation_p.S364Y|CSE1L_ENST00000396192.3_Missense_Mutation_p.S525Y	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	581					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGAAGTTTTTCTCTCCTACAA	0.373													11	27					2.80697e-09	3.67735e-09	1	0	A	47704564	C	A	47704564	3	1	105	1	0	0	0	0	1	0	0	0	3962	913	32	2	1804	2	CSE1L	20	47704564	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	3185444	47704564	15320956	110	20132											
CBLN4	140689	broad.mit.edu	37	chr20	54578941	54578941	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccccgggtctgacctgaTcgaagtaaatgatgcgcgtc	8	9	11	13	4	1	3	0	3	1	0	4	4	2	3	4	1	1	1	4	1	3	1			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:54578941T>G	ENST00000064571.2	-	1	1587	c.287A>C	c.(286-288)gAt>gCt	p.D96A		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	96	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TCTGACCTGATCGAAGTAAAT	0.647													30	192					0	0	0	0	G	54578941	T	G	54578941	3	3	105	1	0	0	0	0	1	0	0	0	2732	1435	50	5	330	5	CBLN4	20	54578941	Missense_Mutation	SNP	T	TCGA-CN-6989-01A-11D-1912-08	6874377	54578941	8446579	111	20133											
ADAMTS5	11096	broad.mit.edu	37	chr21	28307044	28307044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggcccaggatctgctttCgtggtaggtccagcaaacag	8	8	14	11	2	1	0	0	0	1	0	3	1	2	1	2	5	3	3	2	5	2	2	rs142161826		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr21:28307044C>A	ENST00000284987.5	-	4	1551	c.1430G>T	c.(1429-1431)cGa>cTa	p.R477L	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	477					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GATCTGCTTTCGTGGTAGGTC	0.507													8	43					1.12685e-05	1.37998e-05	1	0	A	28307044	C	A	28307044	3	1	105	1	0	0	0	0	1	0	0	0	269	884	31	3	1382	3	ADAMTS5	21	28307044	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08		28307044	19822851	112	20134											
IFNAR2	3455	broad.mit.edu	37	chr21	34624976	34624976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgtttacagcataaacccGaaataaaaggaaacatgagt	19	9	7	6	1	0	1	0	1	0	0	0	3	0	2	1	1	4	2	1	1	8	5	rs147789575	byFrequency	TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr21:34624976G>A	ENST00000404220.3	+	7	879	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	AP000295.9_ENST00000433395.2_Silent_p.P91P|IFNAR2_ENST00000382264.3_Missense_Mutation_p.E184K|IFNAR2_ENST00000342101.3_Missense_Mutation_p.E184K|IFNAR2_ENST00000382241.3_Missense_Mutation_p.E184K|IFNAR2_ENST00000342136.4_Missense_Mutation_p.E184K|IFNAR2_ENST00000413881.1_Missense_Mutation_p.E112K			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	184					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GCATAAACCCGAAATAAAAGG	0.333													12	25					0	0	0	0	A	34624976	G	A	34624976	3	1	105	1	0	0	0	0	1	0	0	0	7598	1059	37	1	572	1	IFNAR2	21	34624976	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08	6317932	34624976	13504919	113	20135											
PIK3IP1	113791	broad.mit.edu	37	chr22	31679217	31679217	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacaagggcagagtgatTcgctgcatctccctctcaca	10	8	10	13	1	2	3	1	1	2	2	5	3	2	3	1	1	1	4	1	1	1	1	rs145125391		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr22:31679217T>A	ENST00000215912.5	-	6	828	c.645A>T	c.(643-645)cgA>cgT	p.R215R	PIK3IP1_ENST00000441972.1_3'UTR|PIK3IP1_ENST00000487265.2_Silent_p.R136R	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	215						integral to membrane				large_intestine(2)|lung(1)|ovary(1)	4						GCAGAGTGATTCGCTGCATCT	0.507													15	71					0	0	0	0	A	31679217	T	A	31679217	2	1	105	1	0	0	0	0	0	0	0	1	11989	1770	62	5		5	PIK3IP1	22	31679217	Silent	SNP	T	TCGA-CN-6989-01A-11D-1912-08		31679217	19625349	114	20136											
LARGE	9215	broad.mit.edu	37	chr22	34157394	34157394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggtaaatccaggtgaTggctgggatgcagagaagac	15	6	14	6	0	0	3	0	1	0	2	1	5	1	4	1	4	2	3	1	4	4	1			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr22:34157394T>C	ENST00000354992.2	-	3	641	c.70A>G	c.(70-72)Atc>Gtc	p.I24V	LARGE_ENST00000402320.1_Missense_Mutation_p.I24V|LARGE_ENST00000437602.2_Missense_Mutation_p.I24V|LARGE_ENST00000337431.2_Missense_Mutation_p.I24V|LARGE_ENST00000397394.2_Missense_Mutation_p.I24V	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	24					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ATCCAGGTGATGGCTGGGATG	0.507													24	100					0	0	0	0	C	34157394	T	C	34157394	3	2	105	1	0	0	0	0	1	0	0	0	8680	1464	51	5	2256	5	LARGE	22	34157394	Missense_Mutation	SNP	T	TCGA-CN-6989-01A-11D-1912-08	2478177	34157394	17147172	115	20137											
PLXNB2	23654	broad.mit.edu	37	chr22	50727227	50727227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagacagtaccaggtcgCgcttgactctcttgtttatc	7	13	8	13	2	1	2	0	1	1	1	5	2	2	2	2	1	1	3	2	1	2	5			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr22:50727227C>T	ENST00000449103.1	-	5	1465	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R442H			O15031	PLXB2_HUMAN	plexin B2	442	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TACCAGGTCGCGCTTGACTCT	0.607													10	40					0	0	0	0	T	50727227	C	T	50727227	3	4	105	1	0	0	0	0	1	0	0	0	12196	768	27	1	4323	1	PLXNB2	22	50727227	Missense_Mutation	SNP	C	TCGA-CN-6989-01A-11D-1912-08	16569833	50727227	577339	116	20138											
TBX22	50945	broad.mit.edu	37	chrX	79286052	79286052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggccccctctcctttGaactccttactttctccact	5	13	7	16	0	2	1	0	1	2	0	5	2	3	2	5	3	2	0	5	3	2	3			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chrX:79286052G>T	ENST00000442340.1	+	9	1135	c.645G>T	c.(643-645)ttG>ttT	p.L215F	TBX22_ENST00000373296.3_Missense_Mutation_p.L335F|TBX22_ENST00000373291.1_Missense_Mutation_p.L215F|TBX22_ENST00000373294.5_Missense_Mutation_p.L335F	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	335					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTCTCCTTTGAACTCCTTAC	0.473													34	43					1.02151e-06	1.28832e-06	1	0	T	79286052	G	T	79286052	3	4	105	1	0	0	0	0	1	0	0	0	15752	1281	45	2	1035	2	TBX22	23	79286052	Missense_Mutation	SNP	G	TCGA-CN-6989-01A-11D-1912-08		79286052	75984508	117	20139											
NXF5	55998	broad.mit.edu	37	chrX	101092616	101092616	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgtgtgctttagcagcttCctctgcaggtctatagagaa	8	15	10	8	0	2	1	0	0	2	1	3	2	3	1	1	1	4	4	1	1	4	6			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chrX:101092616C>T	ENST00000537026.1	-	15	1289	c.930G>A	c.(928-930)agG>agA	p.R310R	NXF5_ENST00000361708.2_Silent_p.R310R|NXF5_ENST00000473265.2_Silent_p.R310R	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	310	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTAGCAGCTTCCTCTGCAGGT	0.527													5	72					0	0	0	0	T	101092616	C	T	101092616	2	4	105	1	0	0	0	0	0	0	0	1	10857	854	30	2		2	NXF5	23	101092616	Silent	SNP	C	TCGA-CN-6989-01A-11D-1912-08	21806564	101092616	54177944	118	20140											
CLCNKA	1187	broad.mit.edu	37	chr1	16357081	16357081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctggcagccaacgccattGcacagagctgccagccctcc	8	6	10	17	1	0	1	0	0	0	1	1	1	1	1	5	1	7	4	5	1	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:16357081G>T	ENST00000375692.1	+	16	1662	c.1534G>T	c.(1534-1536)Gca>Tca	p.A512S	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.A469S|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A512S|CLCNKA_ENST00000331433.4_Missense_Mutation_p.A512S			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	512					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CAACGCCATTGCACAGAGCTG	0.612													27	19					4.59853e-10	7.25323e-10	1	0	T	16357081	G	T	16357081	3	4	106	1	0	0	0	0	1	0	0	0	3499	1319	46	4	1588	4	CLCNKA	1	16357081	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08		16357081	232893540	1	20141											
NBPF1	55672	broad.mit.edu	37	chr1	16890588	16890588	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtgctggaatgagtcaggTagttcaaagtacattgacgg	12	11	13	5	1	2	2	2	2	0	0	2	3	2	3	0	3	2	4	0	3	5	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:16890588T>A	ENST00000430580.2	-	29	4157	c.3270A>T	c.(3268-3270)ctA>ctT	p.L1090L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1070	NBPF 7.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATGAGTCAGGTAGTTCAAAGT	0.463													75	1039					0	0	0	0	A	16890588	T	A	16890588	2	1	106	1	0	0	0	0	0	0	0	1	10262	1625	57	5		5	NBPF1	1	16890588	Silent	SNP	T	TCGA-CN-6992-01A-11D-1912-08	533507	16890588	232360033	2	20142											
MAP3K6	9064	broad.mit.edu	37	chr1	27684364	27684364	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccgcaggctcctcgggCaccctgggcacaagggcgag	6	4	16	15	4	0	0	0	0	0	0	3	1	1	0	3	5	0	4	3	5	1	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:27684364C>A	ENST00000493901.1	-	23	3158	c.2919G>T	c.(2917-2919)gtG>gtT	p.V973V	MAP3K6_ENST00000357582.2_Silent_p.V973V|MAP3K6_ENST00000374040.3_Silent_p.V965V	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	973					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCCTCGGGCACCCTGGGCA	0.657											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	2					0.00116845	0.00165868	1	0	A	27684364	C	A	27684364	2	1	106	1	0	0	0	0	0	0	0	1	9323	697	25	4		4	MAP3K6	1	27684364	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	10793776	27684364	221566257	3	20143											
DLGAP3	58512	broad.mit.edu	37	chr1	35333227	35333227	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactgcggatcttctccagGactagaaagcagaaggaaat	14	7	11	9	1	2	2	0	0	2	2	3	5	2	5	1	3	2	2	1	3	4	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:35333227G>T	ENST00000373347.1	-	10	2755	c.2485_splice	c.e10-1	p.I829_splice	DLGAP3_ENST00000235180.4_Splice_Site_p.I829_splice			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	829					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCTTCTCCAGGACTAGAAAGC	0.557													67	23					2.73361e-28	5.1591e-28	1	0	T	35333227	G	T	35333227	5	4	106	1	0	0	0	0	0	0	1	0	4598	1188	41	2	464	2	DLGAP3	1	35333227	Splice_Site	SNP	G	TCGA-CN-6992-01A-11D-1912-08	7648863	35333227	213917394	4	20144											
OXCT2	64064	broad.mit.edu	37	chr1	40235514	40235514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgtgcacgtcaaacaCggccttctcggtgatgatgc	7	11	10	13	3	2	2	1	2	1	0	4	2	3	2	2	2	3	1	2	2	1	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:40235514C>T	ENST00000327582.5	-	1	1506	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	472					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity	p.V472L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	ACGTCAAACACGGCCTTCTCG	0.587													83	44					0	0	0	0	T	40235514	C	T	40235514	3	4	106	1	0	0	0	0	1	0	0	0	11401	536	19	1	143	1	OXCT2	1	40235514	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	4902287	40235514	209015107	5	20145											
RLF	6018	broad.mit.edu	37	chr1	40705148	40705148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagaatcttgttgtttgcGttaagtacggtaccaaaatt	11	15	10	5	2	1	1	0	0	1	1	1	2	1	1	1	2	3	5	1	2	6	7			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:40705148G>A	ENST00000372771.4	+	8	4801	c.4774G>A	c.(4774-4776)Gtt>Att	p.V1592I		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1592					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGTTGTTTGCGTTAAGTACGG	0.428													21	98					0	0	0	0	A	40705148	G	A	40705148	3	1	106	1	0	0	0	0	1	0	0	0	13474	1145	40	1	4804	1	RLF	1	40705148	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	469634	40705148	208545473	6	20146											
CCDC30	728621	broad.mit.edu	37	chr1	43011090	43011090	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taattttgcaggtcttgaagCtttcacaagaatttgcacaa	13	14	7	7	0	2	2	1	1	1	1	2	2	2	2	0	1	3	3	0	1	5	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:43011090C>A	ENST00000428554.2	+	11	1408	c.265C>A	c.(265-267)Ctt>Att	p.L89I	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.L89I|CCDC30_ENST00000340612.4_Missense_Mutation_p.L89I|CCDC30_ENST00000390640.4_Intron			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	89										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GGTCTTGAAGCTTTCACAAGA	0.284													21	17					4.54149e-19	8.16967e-19	1	0	A	43011090	C	A	43011090	3	1	106	1	0	0	0	0	1	0	0	0	2831	797	28	4	275	4	CCDC30	1	43011090	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	2305942	43011090	206239531	7	20147											
ZRANB2	9406	broad.mit.edu	37	chr1	71544178	71544178	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttagcactaaataggcctcgGctcttttctgcaagtgtctt	8	15	8	10	1	3	0	0	0	3	0	4	0	3	0	1	2	2	3	1	2	5	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:71544178G>C	ENST00000370920.3	-	3	481	c.180C>G	c.(178-180)agC>agG	p.S60R	ZRANB2_ENST00000254821.6_Missense_Mutation_p.S60R	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	60					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						ATAGGCCTCGGCTCTTTTCTG	0.378													8	59					0	0	0	0	C	71544178	G	C	71544178	3	2	106	1	0	0	0	0	1	0	0	0	18316	1194	42	4	882	4	ZRANB2	1	71544178	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	28533088	71544178	177706443	8	20148											
MAGI3	260425	broad.mit.edu	37	chr1	114193672	114193672	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattcccctgggagcagctGagaaagatggtcggctccgc	8	9	13	11	2	0	2	0	1	0	2	3	4	2	3	3	3	2	3	3	3	2	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:114193672G>T	ENST00000369615.1	+	14	2346	c.2284G>T	c.(2284-2286)Gag>Tag	p.E762*	MAGI3_ENST00000369611.4_Nonsense_Mutation_p.E762*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.E787*|MAGI3_ENST00000307546.9_Nonsense_Mutation_p.E762*	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	787	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGAGCAGCTGAGAAAGATGG	0.418													18	20					2.94398e-08	4.46037e-08	1	0	T	114193672	G	T	114193672	4	4	106	1	0	0	0	0	0	1	0	0	9261	1291	45	2	2338	2	MAGI3	1	114193672	Nonsense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	42649494	114193672	135056949	9	20149											
SYCP1	6847	broad.mit.edu	37	chr1	115537355	115537355	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagagacattgaaaacactgTataggaacaataatccacca	20	7	6	8	0	0	2	0	1	0	1	1	4	1	3	2	1	2	1	2	1	8	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:115537355T>A	ENST00000369522.3	+	31	2980	c.2740T>A	c.(2740-2742)Tat>Aat	p.Y914N	SYCP1_ENST00000369518.1_Missense_Mutation_p.Y914N|SYCP1_ENST00000477590.1_3'UTR	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	914					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		GAAAACACTGTATAGGAACAA	0.284													22	7					0	0	0	0	A	115537355	T	A	115537355	3	1	106	1	0	0	0	0	1	0	0	0	15522	1638	57	5	2858	5	SYCP1	1	115537355	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	1343683	115537355	133713266	10	20150											
SPAG17	200162	broad.mit.edu	37	chr1	118537063	118537063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttcccatgaccttgacCggagattaggagggacaatt	11	11	11	8	1	0	3	0	2	0	1	1	6	1	5	3	3	0	1	3	3	2	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:118537063C>A	ENST00000336338.5	-	35	5209	c.5144G>T	c.(5143-5145)cGg>cTg	p.R1715L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1715						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGACCTTGACCGGAGATTAGG	0.423													13	12					1.49906e-05	2.2047e-05	1	0	A	118537063	C	A	118537063	3	1	106	1	0	0	0	0	1	0	0	0	15069	652	23	3	1583	3	SPAG17	1	118537063	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	2999708	118537063	130713558	11	20151											
HMGCS2	3158	broad.mit.edu	37	chr1	120311418	120311418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagggaggtttcctgcaccGctcttgtcagttgcagaatg	7	12	13	9	1	2	2	1	1	1	1	3	3	3	3	2	2	2	5	2	2	1	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:120311418G>A	ENST00000369406.3	-	1	99	c.50C>T	c.(49-51)gCg>gTg	p.A17V	HMGCS2_ENST00000544913.2_Missense_Mutation_p.A17V	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	17					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TTCCTGCACCGCTCTTGTCAG	0.517													8	25					0	0	0	0	A	120311418	G	A	120311418	3	1	106	1	0	0	0	0	1	0	0	0	7283	1087	38	1	1512	1	HMGCS2	1	120311418	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1774355	120311418	128939203	12	20152											
FCRL4	83417	broad.mit.edu	37	chr1	157551393	157551393	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactgagcagccctccagTggctcccgcggcgacaaggc	8	4	13	16	3	0	1	0	1	0	0	2	2	2	1	3	3	3	3	3	3	1	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:157551393T>A	ENST00000271532.1	-	7	1312	c.1177A>T	c.(1177-1179)Act>Tct	p.T393S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	393						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCCCTCCAGTGGCTCCCGCG	0.572													33	18					0	0	0	0	A	157551393	T	A	157551393	3	1	106	1	0	0	0	0	1	0	0	0	5842	1696	59	5	394	5	FCRL4	1	157551393	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	37239975	157551393	91699228	13	20153											
FCRL1	115350	broad.mit.edu	37	chr1	157771764	157771764	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccattgttggcctcaCaggagtagtttccagaatgt	9	11	11	10	0	1	1	1	0	0	1	2	2	2	2	4	3	0	3	4	3	2	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:157771764C>A	ENST00000358292.3	-	5	878	c.827G>T	c.(826-828)tGt>tTt	p.C276F	FCRL1_ENST00000368176.3_Missense_Mutation_p.C276F|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.C276F	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	276	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTTGGCCTCACAGGAGTAGTT	0.557													55	63					1.95512e-22	3.62697e-22	1	0	A	157771764	C	A	157771764	3	1	106	1	0	0	0	0	1	0	0	0	5839	478	17	4	556	4	FCRL1	1	157771764	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	220371	157771764	91478857	14	20154											
CD5L	922	broad.mit.edu	37	chr1	157803236	157803236	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacagagccccatacgcccTtgtgcagcacctccagtcgc	9	6	9	17	2	0	2	0	0	0	2	2	2	1	2	5	0	4	2	5	0	1	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:157803236T>C	ENST00000368174.4	-	5	881	c.785A>G	c.(784-786)aAg>aGg	p.K262R		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	262	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATACGCCCTTGTGCAGCAC	0.572													89	91					0	0	0	0	C	157803236	T	C	157803236	3	2	106	1	0	0	0	0	1	0	0	0	3056	1609	56	5	266	5	CD5L	1	157803236	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	31472	157803236	91447385	15	20155											
CD1C	911	broad.mit.edu	37	chr1	158263029	158263029	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttttccatgaattggattgCcttggtagtgatagtgccct	7	16	10	8	0	0	2	0	2	0	0	1	3	1	3	3	2	2	1	3	2	3	7			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:158263029C>A	ENST00000368170.3	+	5	1196	c.917C>A	c.(916-918)gCc>gAc	p.A306D		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	306					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AATTGGATTGCCTTGGTAGTG	0.398													60	197					4.66136e-34	8.90021e-34	1	0	A	158263029	C	A	158263029	3	1	106	1	0	0	0	0	1	0	0	0	3005	739	26	4	935	4	CD1C	1	158263029	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	459793	158263029	90987592	16	20156											
OR10T2	128360	broad.mit.edu	37	chr1	158368630	158368630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattaacagaaaaggcacCataattaccaggatgctgag	18	7	9	7	0	0	3	0	1	0	2	0	4	0	4	2	2	3	2	2	2	6	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:158368630C>G	ENST00000334438.1	-	1	626	c.627G>C	c.(625-627)atG>atC	p.M209I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GAAAAGGCACCATAATTACCA	0.458													9	54					0	0	0	0	G	158368630	C	G	158368630	3	3	106	1	0	0	0	0	1	0	0	0	10990	594	21	4	319	4	OR10T2	1	158368630	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	105601	158368630	90881991	17	20157											
SPTA1	6708	broad.mit.edu	37	chr1	158607983	158607983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcaacgttgaaagtccCgctggagagcaaatcttcag	12	9	10	10	2	3	3	2	2	1	1	4	4	4	3	1	1	2	3	1	1	3	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:158607983C>T	ENST00000368148.3	-	36	5209	c.5029G>A	c.(5029-5031)Ggg>Agg	p.G1677R	SPTA1_ENST00000368147.3_Missense_Mutation_p.G1677R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1677					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.G1677R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGAAAGTCCCGCTGGAGAGC	0.413													22	45					0	0	0	0	T	158607983	C	T	158607983	3	4	106	1	0	0	0	0	1	0	0	0	15206	652	23	1	2298	1	SPTA1	1	158607983	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	239353	158607983	90642638	18	20158											
SPTA1	6708	broad.mit.edu	37	chr1	158656328	158656328	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctaaaggtttagaacCtggcaagataaaatgtgtca	14	13	8	6	0	1	2	1	0	0	2	2	2	2	2	2	2	1	2	2	2	7	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:158656328C>A	ENST00000368148.3	-	0	160				SPTA1_ENST00000368147.3_De_novo_Start_OutOfFrame	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTTTAGAACCTGGCAAGATA	0.328													41	50					2.26627e-22	4.19229e-22	1	0	A	158656328	C	A	158656328	1	1	106	1	0	0	0	0	0	0	0	0	15206	696	24	4		4	SPTA1	1	158656328	Translation_Start_Site	SNP	C	TCGA-CN-6992-01A-11D-1912-08	48345	158656328	90594293	19	20159											
FCER1A	2205	broad.mit.edu	37	chr1	159277544	159277544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttccactacagctccgcGtgagaagtactggctacaat	10	10	10	11	2	0	1	0	1	0	1	2	2	2	1	2	1	4	4	2	1	5	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:159277544G>T	ENST00000368115.1	+	6	695	c.596G>T	c.(595-597)cGt>cTt	p.R199L	FCER1A_ENST00000368114.1_Missense_Mutation_p.R166L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	199						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACAGCTCCGCGTGAGAAGTAC	0.413													51	49					1.54043e-34	2.95854e-34	1	0	T	159277544	G	T	159277544	3	4	106	1	0	0	0	0	1	0	0	0	5819	1145	40	3	614	3	FCER1A	1	159277544	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	621216	159277544	89973077	20	20160											
RXRG	6258	broad.mit.edu	37	chr1	165398110	165398110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccgtggggcactcactgggGtatctgtgtagctggggtgg	4	11	18	8	1	2	0	1	0	1	0	3	0	3	0	1	7	1	4	1	7	2	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:165398110G>T	ENST00000359842.5	-	2	445	c.143C>A	c.(142-144)aCc>aAc	p.T48N		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	48	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	ACTCACTGGGGTATCTGTGTA	0.612													8	51					1.12685e-05	1.66102e-05	1	0	T	165398110	G	T	165398110	3	4	106	1	0	0	0	0	1	0	0	0	13850	1261	44	4	1284	4	RXRG	1	165398110	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	6120566	165398110	83852511	21	20161											
SFT2D2	375035	broad.mit.edu	37	chr1	168200757	168200757	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcaattttaggttgtTgaggcatcttcattaagctg	8	20	8	5	0	3	1	2	1	1	0	3	1	3	1	0	2	1	4	0	2	3	9			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:168200757T>C	ENST00000271375.3	+	2	141	c.69T>C	c.(67-69)gtT>gtC	p.V23V	SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Silent_p.V23V|SFT2D2_ENST00000367825.3_Silent_p.V23V	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN	SFT2 domain containing 2	23					protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					TTTAGGTTGTTGAGGCATCTT	0.348													48	52					0	0	0	0	C	168200757	T	C	168200757	2	2	106	1	0	0	0	0	0	0	0	1	14273	1799	63	5		5	SFT2D2	1	168200757	Silent	SNP	T	TCGA-CN-6992-01A-11D-1912-08	2802647	168200757	81049864	22	20162											
SELP	6403	broad.mit.edu	37	chr1	169586541	169586541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttcatttttattctggatgGccactaagtctgtgtagcga	8	17	9	7	1	3	0	1	0	2	0	3	2	3	1	1	2	1	1	1	2	3	7			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:169586541G>T	ENST00000263686.6	-	3	243	c.206C>A	c.(205-207)gCc>gAc	p.A69D	SELP_ENST00000367788.2_Missense_Mutation_p.A69D|SELP_ENST00000367792.2_Missense_Mutation_p.A69D|SELP_ENST00000367791.2_Missense_Mutation_p.A69D|SELP_ENST00000367793.2_Missense_Mutation_p.A69D|SELP_ENST00000367794.2_Missense_Mutation_p.A69D|SELP_ENST00000458599.2_Missense_Mutation_p.A69D|SELP_ENST00000367786.2_Missense_Mutation_p.A69D	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	69	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATTCTGGATGGCCACTAAGTC	0.408													55	142					6.3091e-27	1.18047e-26	1	0	T	169586541	G	T	169586541	3	4	106	1	0	0	0	0	1	0	0	0	14106	1203	42	4	2342	4	SELP	1	169586541	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1385784	169586541	79664080	23	20163											
FMO4	2329	broad.mit.edu	37	chr1	171300851	171300851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggctttcagggcaaacGcgtcttggtgattggtcttg	8	12	14	7	2	3	2	1	1	2	1	3	2	3	2	0	4	1	2	0	4	2	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:171300851G>A	ENST00000367749.3	+	6	887	c.557G>A	c.(556-558)cGc>cAc	p.R186H	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	186					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGGGCAAACGCGTCTTGGTG	0.463													25	153					0	0	0	0	A	171300851	G	A	171300851	3	1	106	1	0	0	0	0	1	0	0	0	6002	1087	38	1	571	1	FMO4	1	171300851	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1714310	171300851	77949770	24	20164											
PAPPA2	60676	broad.mit.edu	37	chr1	176758976	176758976	+	Frame_Shift_Del	DEL	G	G	-																															agatacaatgcctggaaggtGgaatctgggagcaaggcagc																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:176758976delG	ENST00000367662.3	+	18	5911	c.4747delG	c.(4747-4749)gafs	p.G1583fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1583	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTGGAAGGTGGAATCTGGGA	0.458													18	30	---	---	---	---					-	176758976	G	-	176758976	7	5	106	1	0	1	0	1	0	0	0	0	11504	1349	47	0	4866	0	PAPPA2	1	176758976	Frame_Shift_Del	DEL	G	TCGA-CN-6992-01A-11D-1912-08	5458125	176758976	72491645	25	20165											
RALGPS2	55103	broad.mit.edu	37	chr1	178871291	178871291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgataggatggatggtgatGatggctgatgaccctgaaca	11	10	15	5	0	0	6	0	6	0	0	0	8	0	8	1	4	1	1	1	4	2	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:178871291G>A	ENST00000367635.3	+	18	1913	c.1575G>A	c.(1573-1575)atG>atA	p.M525I	RALGPS2_ENST00000367634.2_Missense_Mutation_p.M499I|RALGPS2_ENST00000324778.4_Missense_Mutation_p.M490I	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	525	PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GGATGGTGATGATGGCTGATG	0.388													10	86					0	0	0	0	A	178871291	G	A	178871291	3	1	106	1	0	0	0	0	1	0	0	0	13100	1290	45	2	1641	2	RALGPS2	1	178871291	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	2112315	178871291	70379330	26	20166											
CACNA1E	777	broad.mit.edu	37	chr1	181702849	181702849	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtcaccgtcgccatcccCgacgtggaccccttggtgga	6	7	12	16	5	1	0	1	0	0	0	3	3	2	2	6	3	1	0	6	3	0	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:181702849C>T	ENST00000526775.1	+	20	3333	c.3168C>T	c.(3166-3168)ccC>ccT	p.P1056P	CACNA1E_ENST00000367567.4_Silent_p.P682P|CACNA1E_ENST00000357570.5_Silent_p.P1026P|CACNA1E_ENST00000358338.5_Silent_p.P1007P|CACNA1E_ENST00000367570.1_Silent_p.P1075P|CACNA1E_ENST00000367573.2_Silent_p.P1075P|CACNA1E_ENST00000360108.3_Silent_p.P1056P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1075					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCGCCATCCCCGACGTGGACC	0.652													12	28					0	0	0	0	T	181702849	C	T	181702849	2	4	106	1	0	0	0	0	0	0	0	1	2567	639	23	1		1	CACNA1E	1	181702849	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	2831558	181702849	67547772	27	20167											
CRB1	23418	broad.mit.edu	37	chr1	197390857	197390857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttaacttctataatatGccatccacaccttcgtttgt	9	16	4	12	1	1	0	0	0	1	0	3	0	2	0	3	0	3	2	3	0	4	7			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:197390857G>A	ENST00000367397.1	+	2	900	c.42G>A	c.(40-42)atG>atA	p.M14I	CRB1_ENST00000535699.1_Missense_Mutation_p.M564I|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.M633I|CRB1_ENST00000538660.1_Missense_Mutation_p.M633I|CRB1_ENST00000367399.2_Missense_Mutation_p.M521I|CRB1_ENST00000544212.1_Missense_Mutation_p.M114I			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	633					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTATAATATGCCATCCACAC	0.403													44	87					0	0	0	0	A	197390857	G	A	197390857	3	1	106	1	0	0	0	0	1	0	0	0	3878	1319	46	4	1921	4	CRB1	1	197390857	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	15688008	197390857	51859764	28	20168											
ATP2B4	493	broad.mit.edu	37	chr1	203708793	203708793	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatagaggaggagttgccAcgaacaccactcctggatga	12	6	12	11	1	0	2	0	1	0	1	1	6	1	5	4	3	2	1	4	3	2	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:203708793A>G	ENST00000357681.5	+	21	4552	c.3429A>G	c.(3427-3429)ccA>ccG	p.P1143P	ATP2B4_ENST00000391954.2_3'UTR|ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000367218.3_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1179					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGGAGTTGCCACGAACACCAC	0.502													23	51					0	0	0	0	G	203708793	A	G	203708793	2	3	106	1	0	0	0	0	0	0	0	1	1146	146	6	5		5	ATP2B4	1	203708793	Silent	SNP	A	TCGA-CN-6992-01A-11D-1912-08	6317936	203708793	45541828	29	20169											
KCNH1	3756	broad.mit.edu	37	chr1	211263942	211263942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caattggctgtttgaaagctGttatgtcactgaaagtgcaa	12	13	10	6	0	1	2	1	2	0	0	1	2	1	2	0	1	2	5	0	1	5	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:211263942G>A	ENST00000367007.4	-	4	570	c.401C>T	c.(400-402)aCa>aTa	p.T134I	KCNH1_ENST00000271751.4_Missense_Mutation_p.T134I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	134	PAC.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTTGAAAGCTGTTATGTCACT	0.358													18	24					0	0	0	0	A	211263942	G	A	211263942	3	1	106	1	0	0	0	0	1	0	0	0	8084	1377	48	4	2600	4	KCNH1	1	211263942	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	7555149	211263942	37986679	30	20170											
CHRM3	1131	broad.mit.edu	37	chr1	240072502	240072502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtcatttttcacaagcGcgcacccgagcaggccttgt	7	10	11	13	4	2	0	2	0	0	0	3	1	2	0	2	2	2	2	2	2	1	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:240072502G>A	ENST00000255380.4	+	5	2530	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	584					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TTTCACAAGCGCGCACCCGAG	0.522													9	40					0	0	0	0	A	240072502	G	A	240072502	3	1	106	1	0	0	0	0	1	0	0	0	3407	1087	38	1	1753	1	CHRM3	1	240072502	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	28808560	240072502	9178119	31	20171											
HNRNPU	3192	broad.mit.edu	37	chr1	245026026	245026026	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcctttctgttctgttttgCcgtcccctaaaacacacacg	7	13	6	15	3	2	0	0	0	2	0	3	0	3	0	4	0	2	2	4	0	2	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:245026026C>G	ENST00000444376.2	-	2	875	c.641G>C	c.(640-642)gGc>gCc	p.G214A	HNRNPU_ENST00000283179.9_Missense_Mutation_p.G233A	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	233					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTCTGTTTTGCCGTCCCCTAA	0.443													47	77					0	0	0	0	G	245026026	C	G	245026026	3	3	106	1	0	0	0	0	1	0	0	0	7323	739	26	4	1831	4	HNRNPU	1	245026026	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	4953524	245026026	4224595	32	20172											
OR2W5	441932	broad.mit.edu	37	chr1	247655122	247655122	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgaggatgaagtcagCagcagggcgaaagaaagcct	13	5	16	7	1	1	3	1	2	0	1	1	5	1	4	1	3	4	3	1	3	3	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:247655122C>A	ENST00000522351.1	+	0	753							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ATGAAGTCAGCAGCAGGGCGA	0.577													27	61					1.42536e-11	2.32689e-11	1	0	A	247655122	C	A	247655122	1	1	106	0	1	0	0	0	0	0	0	0	11105	709	25	4		4	OR2W5	1	247655122	RNA	SNP	C	TCGA-CN-6992-01A-11D-1912-08	2629096	247655122	1595499	33	20173											
OR2M2	391194	broad.mit.edu	37	chr1	248343988	248343988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgggatctggagagggtcGttgcaaagctttcacgacct	9	10	13	9	2	2	1	1	0	1	1	3	4	2	2	1	3	2	3	1	3	1	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:248343988G>A	ENST00000359682.2	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAGAGGGTCGTTGCAAAGCT	0.468													46	49					0	0	0	0	A	248343988	G	A	248343988	3	1	106	1	0	0	0	0	1	0	0	0	11081	1145	40	1	703	1	OR2M2	1	248343988	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	688866	248343988	906633	34	20174											
GREB1	9687	broad.mit.edu	37	chr2	11750844	11750844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcacagcgcggtgatcagGacctttgttctcgtgcagca	7	10	12	12	3	2	1	1	1	1	0	3	2	2	2	1	2	4	4	1	2	0	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:11750844G>T	ENST00000381486.2	+	18	2997	c.2697G>T	c.(2695-2697)agG>agT	p.R899S	GREB1_ENST00000234142.5_Missense_Mutation_p.R899S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	899						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGGTGATCAGGACCTTTGTTC	0.642													13	40					1.5842e-08	2.41702e-08	1	0	T	11750844	G	T	11750844	3	4	106	1	0	0	0	0	1	0	0	0	6810	1165	41	2	2871	2	GREB1	2	11750844	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08		11750844	231448529	35	20175											
ATAD2B	54454	broad.mit.edu	37	chr2	23980963	23980963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccgccttgattttctccGaacccgaactgttttacaag	8	14	6	13	3	2	1	0	1	2	0	4	3	2	1	4	0	3	1	4	0	4	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:23980963G>A	ENST00000238789.5	-	25	3746	c.3403C>T	c.(3403-3405)Cgg>Tgg	p.R1135W	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1135							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTTTCTCCGAACCCGAACT	0.323													9	43					0	0	0	0	A	23980963	G	A	23980963	3	1	106	1	0	0	0	0	1	0	0	0	1076	1057	37	1	989	1	ATAD2B	2	23980963	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	12230119	23980963	219218410	36	20176											
MFSD2B	388931	broad.mit.edu	37	chr2	24247090	24247090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcatcctcatggtcggctCcactccaaagacacccagtc	9	8	7	17	1	1	1	1	0	0	1	6	1	4	1	4	2	1	2	4	2	1	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:24247090C>T	ENST00000338315.4	+	13	1439	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	MFSD2B_ENST00000406420.3_Missense_Mutation_p.S480F			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	480					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						ATGGTCGGCTCCACTCCAAAG	0.647													3	16					0	0	0	0	T	24247090	C	T	24247090	3	4	106	1	0	0	0	0	1	0	0	0	9600	855	30	2	1489	2	MFSD2B	2	24247090	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	266127	24247090	218952283	37	20177											
THADA	63892	broad.mit.edu	37	chr2	43801646	43801646	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagtctcatgccactggtCaatccaagaactctcagcag	12	8	7	14	0	3	1	3	0	2	1	6	1	4	1	3	1	3	1	3	1	4	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:43801646C>G	ENST00000403856.1	-	12	1705	c.1558G>C	c.(1558-1560)Gac>Cac	p.D520H	THADA_ENST00000330266.7_Missense_Mutation_p.D230H|THADA_ENST00000415080.2_Missense_Mutation_p.D230H|THADA_ENST00000405975.2_Missense_Mutation_p.D520H|THADA_ENST00000405006.4_Missense_Mutation_p.D520H|THADA_ENST00000404790.1_Missense_Mutation_p.D520H|THADA_ENST00000402360.2_Missense_Mutation_p.D520H			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	520							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TGCCACTGGTCAATCCAAGAA	0.383													11	53					0	0	0	0	G	43801646	C	G	43801646	3	3	106	1	0	0	0	0	1	0	0	0	15934	826	29	2	4415	2	THADA	2	43801646	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	19554556	43801646	199397727	38	20178											
LHCGR	3973	broad.mit.edu	37	chr2	48914940	48914940	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatttgatccagtgaagcCatttttgcagttggaggtgt	8	16	11	6	0	0	2	0	2	0	0	1	3	1	3	2	2	2	2	2	2	2	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:48914940C>A	ENST00000294954.7	-	11	2017	c.1996G>T	c.(1996-1998)Ggc>Tgc	p.G666C	LHCGR_ENST00000344775.3_Missense_Mutation_p.G604C|LHCGR_ENST00000405626.1_Missense_Mutation_p.G639C|LHCGR_ENST00000403273.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	666					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CCAGTGAAGCCATTTTTGCAG	0.428													80	66					7.2426e-40	1.41599e-39	1	0	A	48914940	C	A	48914940	3	1	106	1	0	0	0	0	1	0	0	0	8816	594	21	4	107	4	LHCGR	2	48914940	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	5113294	48914940	194284433	39	20179											
FSHR	2492	broad.mit.edu	37	chr2	49189919	49189919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagtatgtaagtggaacCactggtgactctgggagctg	11	9	14	7	0	1	1	0	1	1	0	1	4	1	3	1	3	2	3	1	3	4	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:49189919C>T	ENST00000406846.2	-	10	2160	c.2041G>A	c.(2041-2043)Ggt>Agt	p.G681S	FSHR_ENST00000541117.1_Missense_Mutation_p.G417S|FSHR_ENST00000346173.3_Missense_Mutation_p.G619S|FSHR_ENST00000304421.4_Missense_Mutation_p.G655S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	681					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TAAGTGGAACCACTGGTGACT	0.413									Gonadal Dysgenesis, 46 XX				6	109					0	0	0	0	T	49189919	C	T	49189919	3	4	106	1	0	0	0	0	1	0	0	0	6121	594	21	4	50	4	FSHR	2	49189919	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	274979	49189919	194009454	40	20180											
NRXN1	9378	broad.mit.edu	37	chr2	50573944	50573944	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaactggatgccccccaCgccactcctaggaggccgct	8	5	9	19	2	0	0	0	0	0	0	1	2	1	2	7	3	2	1	7	3	2	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:50573944C>A	ENST00000342183.5	-	1	948	c.144G>T	c.(142-144)gcG>gcT	p.A48A	NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000331040.5_Intron	NM_138735.2	NP_620072.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	0	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGCCCCCCACGCCACTCCTA	0.682													19	13					5.35356e-11	8.61053e-11	1	0	A	50573944	C	A	50573944	2	1	106	1	0	0	0	0	0	0	0	1	10736	523	19	3		3	NRXN1	2	50573944	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1384025	50573944	192625429	41	20181											
USP34	9736	broad.mit.edu	37	chr2	61566804	61566804	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgttgaattgatgtttaTgaactacaggtcctgaagag	12	14	10	5	0	0	5	0	4	0	1	1	5	1	5	1	1	3	2	1	1	6	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:61566804T>C	ENST00000398571.2	-	17	2589	c.2513A>G	c.(2512-2514)cAt>cGt	p.H838R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	838					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTGATGTTTATGAACTACAGG	0.318													15	34					0	0	0	0	C	61566804	T	C	61566804	3	2	106	1	0	0	0	0	1	0	0	0	17161	1464	51	5	8383	5	USP34	2	61566804	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	10992860	61566804	181632569	42	20182											
EIF2AK3	9451	broad.mit.edu	37	chr2	88870420	88870420	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctcatatacagtttggtcCctacttgtcctgtgtgtctg	5	16	10	10	0	2	0	1	0	1	0	4	0	4	0	2	2	2	2	2	2	3	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:88870420C>A	ENST00000303236.3	-	14	3258	c.2957G>T	c.(2956-2958)gGg>gTg	p.G986V	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.G835V	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	986	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CAGTTTGGTCCCTACTTGTCC	0.473													68	84					2.05175e-36	3.98748e-36	1	0	A	88870420	C	A	88870420	3	1	106	1	0	0	0	0	1	0	0	0	5034	623	22	4	409	4	EIF2AK3	2	88870420	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	27303616	88870420	154328953	43	20183											
SNRNP200	23020	broad.mit.edu	37	chr2	96944433	96944433	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacaagtggtccgacaaGtgacgatgggagatgcctat	11	9	13	8	2	1	3	0	2	1	1	2	6	2	3	2	2	1	0	2	2	3	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:96944433G>C	ENST00000323853.5	-	38	5417	c.5340C>G	c.(5338-5340)caC>caG	p.H1780Q	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1780						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGTCCGACAAGTGACGATGGG	0.577													27	51					0	0	0	0	C	96944433	G	C	96944433	3	2	106	1	0	0	0	0	1	0	0	0	14940	1020	36	4	1102	4	SNRNP200	2	96944433	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	8074013	96944433	146254940	44	20184											
GLI2	2736	broad.mit.edu	37	chr2	121740372	121740372	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccggggagaagccataTgtgtgtgagcacgagggctg	10	6	16	9	2	0	2	0	1	0	1	0	4	0	2	2	3	2	2	2	3	2	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:121740372T>C	ENST00000452319.1	+	11	1659	c.1599T>C	c.(1597-1599)taT>taC	p.Y533Y	GLI2_ENST00000361492.4_Silent_p.Y533Y|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Silent_p.Y205Y			P10070	GLI2_HUMAN	GLI family zinc finger 2	533					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)				AGAAGCCATATGTGTGTGAGC	0.617													4	39					0	0	0	0	C	121740372	T	C	121740372	2	2	106	1	0	0	0	0	0	0	0	1	6489	1471	51	5		5	GLI2	2	121740372	Silent	SNP	T	TCGA-CN-6992-01A-11D-1912-08	24795939	121740372	121459001	45	20185											
LRP1B	53353	broad.mit.edu	37	chr2	141201897	141201897	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtattttgaggtgacttAcgacagtctctttcatcttc	9	16	8	8	1	3	3	1	2	2	1	5	4	3	3	0	1	1	1	0	1	2	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:141201897A>C	ENST00000389484.3	-	65	11266		c.e65+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGGTGACTTACGACAGTCTC	0.328										TSP Lung(27;0.18)			60	27					0	0	0	0	C	141201897	A	C	141201897	5	2	106	1	0	0	0	0	0	0	1	0	9019	405	14	5	3611	5	LRP1B	2	141201897	Splice_Site	SNP	A	TCGA-CN-6992-01A-11D-1912-08	19461525	141201897	101997476	46	20186											
LRP1B	53353	broad.mit.edu	37	chr2	141232793	141232793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgattaacataatctattGttagtgccataggtctagaa	14	14	7	6	1	2	1	0	0	2	1	2	2	2	1	1	1	3	1	1	1	8	8			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:141232793G>T	ENST00000389484.3	-	60	10510	c.9539C>A	c.(9538-9540)aCa>aAa	p.T3180K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3180					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAATCTATTGTTAGTGCCAT	0.408										TSP Lung(27;0.18)			72	29					1.59245e-42	3.12273e-42	1	0	T	141232793	G	T	141232793	3	4	106	1	0	0	0	0	1	0	0	0	9019	1377	48	4	4388	4	LRP1B	2	141232793	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	30896	141232793	101966580	47	20187											
SCN1A	6323	broad.mit.edu	37	chr2	166898884	166898884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagaaagtccatggaaacGtggaaagaacttgaccttct	14	10	9	8	1	2	3	0	1	2	2	3	5	3	5	2	2	2	0	2	2	5	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:166898884G>T	ENST00000423058.2	-	12	2111	c.2094C>A	c.(2092-2094)caC>caA	p.H698Q	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.H670Q|SCN1A_ENST00000303395.4_Missense_Mutation_p.H698Q|SCN1A_ENST00000375405.3_Missense_Mutation_p.H687Q	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	698						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCATGGAAACGTGGAAAGAAC	0.358													46	22					1.7489e-18	3.10335e-18	1	0	T	166898884	G	T	166898884	3	4	106	1	0	0	0	0	1	0	0	0	14001	1136	40	3	3995	3	SCN1A	2	166898884	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	25666091	166898884	76300489	48	20188											
XIRP2	129446	broad.mit.edu	37	chr2	168107605	168107605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaactcgtggtagggactctCcacctacaatcacaatacca	14	8	6	13	1	2	0	1	0	1	0	4	1	2	1	3	2	3	1	3	2	6	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:168107605C>T	ENST00000409195.1	+	9	9792	c.9703C>T	c.(9703-9705)Cca>Tca	p.P3235S	XIRP2_ENST00000409273.1_Missense_Mutation_p.P3013S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P3235S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3060					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						TAGGGACTCTCCACCTACAAT	0.438													35	16					0	0	0	0	T	168107605	C	T	168107605	3	4	106	1	0	0	0	0	1	0	0	0	17526	855	30	2	9733	2	XIRP2	2	168107605	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1208721	168107605	75091768	49	20189											
TTN	7273	broad.mit.edu	37	chr2	179498188	179498188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgccacagtcacacaCatattcgcctttatctttaa	10	14	5	12	1	3	0	1	0	2	0	4	0	3	0	2	0	1	0	2	0	3	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:179498188C>T	ENST00000589042.1	-	232	43122	c.42898G>A	c.(42898-42900)Gtg>Atg	p.V14300M	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V5360M|TTN_ENST00000460472.2_Missense_Mutation_p.V5235M|TTN_ENST00000342175.6_Missense_Mutation_p.V5427M|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12659M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11732M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12659	Fibronectin type-III 3.						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)			CAGTCACACACATATTCGCCT	0.413													52	22					0	0	0	0	T	179498188	C	T	179498188	3	4	106	1	0	0	0	0	1	0	0	0	16831	478	17	4	65319	4	TTN	2	179498188	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	11390583	179498188	63701185	50	20190											
ZNF804A	91752	broad.mit.edu	37	chr2	185803233	185803233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcaagcattattgatccCactagaaaaccatgacaaat	18	8	6	9	0	0	4	0	2	0	2	1	4	1	4	2	0	3	2	2	0	6	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:185803233C>T	ENST00000302277.6	+	4	3704	c.3110C>T	c.(3109-3111)cCa>cTa	p.P1037L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1037						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTATTGATCCCACTAGAAAAC	0.413													69	23					0	0	0	0	T	185803233	C	T	185803233	3	4	106	1	0	0	0	0	1	0	0	0	18263	594	21	4	3124	4	ZNF804A	2	185803233	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	6305045	185803233	57396140	51	20191											
COL5A2	1290	broad.mit.edu	37	chr2	189925481	189925481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctggttttccaccttctCcaggaggccctggaggacca	7	9	10	15	0	1	0	0	0	1	0	3	3	2	3	6	5	0	1	6	5	0	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:189925481C>A	ENST00000374866.3	-	31	2334	c.2060G>T	c.(2059-2061)gGa>gTa	p.G687V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	687					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCACCTTCTCCAGGAGGCCC	0.383													29	16					2.2171e-23	4.12469e-23	1	0	A	189925481	C	A	189925481	3	1	106	1	0	0	0	0	1	0	0	0	3727	855	30	2	2535	2	COL5A2	2	189925481	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	4122248	189925481	53273892	52	20192											
COQ10B	80219	broad.mit.edu	37	chr2	198334873	198334873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttcctggctacccaaGaacttgtaccttggattttt	8	15	8	10	0	1	1	0	0	1	1	2	2	2	2	3	3	3	2	3	3	4	7			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:198334873G>T	ENST00000263960.2	+	4	665	c.527G>T	c.(526-528)aGa>aTa	p.R176I	COQ10B_ENST00000545340.1_Missense_Mutation_p.R133I|COQ10B_ENST00000409398.1_Missense_Mutation_p.R126I|COQ10B_ENST00000409010.1_Missense_Mutation_p.R148I	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	176						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGCTACCCAAGAACTTGTACC	0.358													8	38					5.4927e-09	8.49937e-09	1	0	T	198334873	G	T	198334873	3	4	106	1	0	0	0	0	1	0	0	0	3774	942	33	2	541	2	COQ10B	2	198334873	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	8409392	198334873	44864500	53	20193											
SPAG16	79582	broad.mit.edu	37	chr2	215275038	215275038	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagttcgaacgtggtcttGaccgtcagcacatcccgctg	8	9	10	14	4	2	1	1	1	1	0	4	2	3	1	2	1	2	3	2	1	1	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:215275038G>C	ENST00000331683.5	+	16	1990	c.1895G>C	c.(1894-1896)tGa>tCa	p.*632S	SPAG16_ENST00000374309.3_Nonstop_Mutation_p.*538S|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	0					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACGTGGTCTTGACCGTCAGCA	0.527													16	68					0	0	0	0	C	215275038	G	C	215275038	4	2	106	1	0	0	0	0	0	0	0	0	15068	1285	45	2	1973	2	SPAG16	2	215275038	Nonstop_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	16940165	215275038	27924335	54	20194											
COL4A3	1285	broad.mit.edu	37	chr2	228173623	228173623	+	Frame_Shift_Del	DEL	G	G	-																															atgtttcattaggaactcttGgcagctgcctgcagcgattt																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:228173623delG	ENST00000396578.3	+	49	4633	c.4471delG	c.(4471-4473)gcfs	p.G1491fs	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1491	Collagen IV NC1.|Required for the anti-angiogenic activity of tumstatin.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGAACTCTTGGCAGCTGCCT	0.368													75	21	---	---	---	---					-	228173623	G	-	228173623	7	5	106	1	0	1	0	1	0	0	0	0	3721	1348	47	0	4665	0	COL4A3	2	228173623	Frame_Shift_Del	DEL	G	TCGA-CN-6992-01A-11D-1912-08	12898585	228173623	15025750	55	20195											
SPHKAP	80309	broad.mit.edu	37	chr2	228973575	228973575	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagttttcagacttgtcttcTacaaaaccaatttggcaggg	11	13	8	9	0	3	1	1	0	2	1	3	1	3	1	1	2	2	2	1	2	4	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:228973575T>A	ENST00000392056.3	-	3	265	c.219A>T	c.(217-219)gtA>gtT	p.V73V	SPHKAP_ENST00000344657.5_Silent_p.V73V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	73						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTTGTCTTCTACAAAACCAA	0.468													69	37					0	0	0	0	A	228973575	T	A	228973575	2	1	106	1	0	0	0	0	0	0	0	1	15138	1509	53	5		5	SPHKAP	2	228973575	Silent	SNP	T	TCGA-CN-6992-01A-11D-1912-08	799952	228973575	14225798	56	20196											
COL6A3	1293	broad.mit.edu	37	chr2	238242092	238242092	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctaatagtttcacaactcaCctgtttcagtgagagccaat	12	12	6	11	0	3	1	3	1	0	1	3	2	3	1	3	0	2	2	3	0	4	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:238242092C>T	ENST00000295550.4	-	42	9781		c.e42+1		COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACAACTCACCTGTTTCAGT	0.448													45	16					0	0	0	0	T	238242092	C	T	238242092	5	4	106	1	0	0	0	0	0	0	1	0	3731	521	18	4	216	4	COL6A3	2	238242092	Splice_Site	SNP	C	TCGA-CN-6992-01A-11D-1912-08	9268517	238242092	4957281	57	20197											
PASK	23178	broad.mit.edu	37	chr2	242079332	242079332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccaccgcagcgtggccgtCggcctccatgtgctcctcgc	4	7	11	19	5	0	0	0	0	0	0	4	0	2	0	6	2	2	2	6	2	0	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:242079332C>T	ENST00000403638.3	-	4	659	c.568G>A	c.(568-570)Gac>Aac	p.D190N	PASK_ENST00000234040.4_Missense_Mutation_p.D190N|PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000405260.1_Missense_Mutation_p.D190N|PASK_ENST00000358649.4_Missense_Mutation_p.D190N	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	190	PAS 1.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCGTGGCCGTCGGCCTCCATG	0.607													5	44					0	0	0	0	T	242079332	C	T	242079332	3	4	106	1	0	0	0	0	1	0	0	0	11543	884	31	1	3463	1	PASK	2	242079332	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	3837240	242079332	1120041	58	20198											
TGM4	7047	broad.mit.edu	37	chr3	44951648	44951648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttctgagagggagcacaGacgacctgtaaaagagaact	15	6	12	8	1	1	3	0	1	1	3	1	7	1	4	1	1	2	3	1	1	3	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:44951648G>A	ENST00000296125.4	+	11	1462	c.1394G>A	c.(1393-1395)aGa>aAa	p.R465K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	465					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGGGAGCACAGACGACCTGTA	0.478													22	30					0	0	0	0	A	44951648	G	A	44951648	3	1	106	1	0	0	0	0	1	0	0	0	15926	942	33	2	1436	2	TGM4	3	44951648	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08		44951648	153070782	59	20199											
TGM4	7047	broad.mit.edu	37	chr3	44952515	44952515	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctggctatattagatgatGagccagttatcagaggtttc	10	13	11	7	0	1	4	1	2	0	2	2	4	1	4	2	2	1	3	2	2	4	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:44952515G>C	ENST00000296125.4	+	12	1740	c.1672G>C	c.(1672-1674)Gag>Cag	p.E558Q		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	558					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATTAGATGATGAGCCAGTTAT	0.458													21	45					0	0	0	0	C	44952515	G	C	44952515	3	2	106	1	0	0	0	0	1	0	0	0	15926	1291	45	2	1718	2	TGM4	3	44952515	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	867	44952515	153069915	60	20200											
SACM1L	22908	broad.mit.edu	37	chr3	45776775	45776775	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggcaaaccaggaaggCgtgttccgaagcaattgcat	11	8	14	8	2	0	0	0	0	0	0	1	2	1	1	2	4	3	4	2	4	4	2	rs138504596		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:45776775C>T	ENST00000389061.5	+	14	1353	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	SACM1L_ENST00000418611.1_Silent_p.G280G|SACM1L_ENST00000541314.1_Silent_p.G322G	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	383	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		ACCAGGAAGGCGTGTTCCGAA	0.438													15	42					0	0	0	0	T	45776775	C	T	45776775	2	4	106	1	0	0	0	0	0	0	0	1	13888	755	27	1		1	SACM1L	3	45776775	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	824260	45776775	152245655	61	20201											
DHX30	22907	broad.mit.edu	37	chr3	47887994	47887994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctggagcgctatgtgaccGagggccgaggtgcccgctgc	5	7	17	12	4	0	1	0	1	0	0	0	4	0	2	3	3	4	3	3	3	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:47887994G>A	ENST00000446256.2	+	12	1887	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	DHX30_ENST00000457607.1_Missense_Mutation_p.E506K|DHX30_ENST00000348968.4_Missense_Mutation_p.E450K|DHX30_ENST00000445061.1_Missense_Mutation_p.E478K	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	478						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTATGTGACCGAGGGCCGAGG	0.642													19	45					0	0	0	0	A	47887994	G	A	47887994	3	1	106	1	0	0	0	0	1	0	0	0	4541	1059	37	1	1477	1	DHX30	3	47887994	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	2111219	47887994	150134436	62	20202											
TWF2	11344	broad.mit.edu	37	chr3	52263103	52263103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaggcgcttatggccccGcttgccccctgggcccttgg	3	9	14	15	2	0	1	0	1	0	0	0	2	0	1	5	4	1	2	5	4	1	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:52263103G>A	ENST00000305533.5	-	9	1240	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	TLR9_ENST00000597542.1_Intron|TWF2_ENST00000499914.2_3'UTR|TLR9_ENST00000494383.1_Intron	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTATGGCCCCGCTTGCCCCCT	0.672													9	43					0	0	0	0	A	52263103	G	A	52263103	3	1	106	1	0	0	0	0	1	0	0	0	16878	1086	38	1	56	1	TWF2	3	52263103	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	4375109	52263103	145759327	63	20203											
ROBO2	6092	broad.mit.edu	37	chr3	77089985	77089985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctctgtggatttttatatGttcgggttgatggtaagtta	7	19	12	3	1	1	1	0	1	1	0	2	2	1	2	0	3	1	5	0	3	4	8			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:77089985G>T	ENST00000461745.1	+	1	949	c.49G>T	c.(49-51)Gtt>Ttt	p.V17F	ROBO2_ENST00000487694.3_Intron|ROBO2_ENST00000332191.8_Missense_Mutation_p.V17F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	17					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATTTTTATATGTTCGGGTTGA	0.383													37	32					1.15505e-17	2.02211e-17	1	0	T	77089985	G	T	77089985	3	4	106	1	0	0	0	0	1	0	0	0	13599	1377	48	4	51	4	ROBO2	3	77089985	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	24826882	77089985	120932445	64	20204											
ZBED2	79413	broad.mit.edu	37	chr3	111312889	111312889	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattcccatgcctcagagaAccgggtgcccttgttgtggg	7	11	12	11	1	1	1	1	0	0	1	2	2	2	1	4	2	3	1	4	2	2	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:111312889A>T	ENST00000317012.4	-	2	1168	c.160T>A	c.(160-162)Ttc>Atc	p.F54I	CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	54							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						GCCTCAGAGAACCGGGTGCCC	0.572													25	44					0	0	0	0	T	111312889	A	T	111312889	3	4	106	1	0	0	0	0	1	0	0	0	17614	43	2	5	500	5	ZBED2	3	111312889	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	34222904	111312889	86709541	65	20205											
ZBTB20	26137	broad.mit.edu	37	chr3	114069375	114069375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcttggggccactgcccGcgggctgggtagtgaagagg	7	6	19	9	2	0	2	0	1	0	1	0	2	0	2	2	6	1	3	2	6	3	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:114069375G>A	ENST00000462705.1	-	11	2152	c.1331C>T	c.(1330-1332)gCg>gTg	p.A444V	ZBTB20_ENST00000357258.3_Missense_Mutation_p.A444V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A444V|ZBTB20_ENST00000471418.1_Missense_Mutation_p.A444V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.A517V|ZBTB20_ENST00000481632.1_Missense_Mutation_p.A444V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A444V	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCCACTGCCCGCGGGCTGGGT	0.622													12	68					0	0	0	0	A	114069375	G	A	114069375	3	1	106	1	0	0	0	0	1	0	0	0	17624	1087	38	1	683	1	ZBTB20	3	114069375	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	2756486	114069375	83953055	66	20206											
CHCHD6	84303	broad.mit.edu	37	chr3	126633572	126633572	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaattccatgaggcagcctCaaagatggagagcacaataa	16	6	10	9	0	1	3	1	1	0	2	2	4	2	3	2	2	2	3	2	2	4	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:126633572C>G	ENST00000508789.1	+	6	620	c.548C>G	c.(547-549)tCa>tGa	p.S183*	CHCHD6_ENST00000290913.3_Nonsense_Mutation_p.S182*|CHCHD6_ENST00000515867.1_3'UTR			Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	182										endometrium(2)|large_intestine(3)|lung(3)	8						GAGGCAGCCTCAAAGATGGAG	0.388													33	12					0	0	0	0	G	126633572	C	G	126633572	4	3	106	1	0	0	0	0	0	1	0	0	3349	838	29	2	567	2	CHCHD6	3	126633572	Nonsense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	12564197	126633572	71388858	67	20207											
MCM2	4171	broad.mit.edu	37	chr3	127338055	127338055	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaaggagagggtccacccGaagctcaaccagatggacca	13	3	12	13	1	1	2	1	0	0	2	2	5	2	3	5	3	2	1	5	3	3	0	rs144817363		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:127338055G>A	ENST00000265056.7	+	13	2443	c.2199G>A	c.(2197-2199)ccG>ccA	p.P733P	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	733					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GGGTCCACCCGAAGCTCAACC	0.597													14	48					0	0	0	0	A	127338055	G	A	127338055	2	1	106	1	0	0	0	0	0	0	0	1	9455	1045	37	1		1	MCM2	3	127338055	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	704483	127338055	70684375	68	20208											
BFSP2	8419	broad.mit.edu	37	chr3	133191346	133191346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgcgcatctgctggcccGcaagtgccagctgcagaagg	7	5	15	14	4	1	1	0	0	1	1	1	1	1	1	2	2	4	5	2	2	2	0	rs141155612		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:133191346G>T	ENST00000302334.2	+	6	1270	c.1181G>T	c.(1180-1182)cGc>cTc	p.R394L	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	394	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTGCTGGCCCGCAAGTGCCAG	0.662													23	9					5.35356e-11	8.61053e-11	1	0	T	133191346	G	T	133191346	3	4	106	1	0	0	0	0	1	0	0	0	1421	1087	38	3	1203	3	BFSP2	3	133191346	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	5853291	133191346	64831084	69	20209											
GPR171	29909	broad.mit.edu	37	chr3	150916254	150916254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaatttttctttctgagccTtggtctctttaggtgaggca	6	19	9	7	0	3	2	0	2	3	0	4	2	3	2	1	3	1	1	1	3	2	7			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:150916254T>C	ENST00000309180.5	-	3	1150	c.920A>G	c.(919-921)aAg>aGg	p.K307R	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	307						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCTGAGCCTTGGTCTCTTT	0.398													4	119					0	0	0	0	C	150916254	T	C	150916254	3	2	106	1	0	0	0	0	1	0	0	0	6717	1609	56	5	43	5	GPR171	3	150916254	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	17724908	150916254	47106176	70	20210											
MME	4311	broad.mit.edu	37	chr3	154886357	154886357	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtaactttaaggagcaatcCcagtgcatggtgtatcagta	13	11	10	7	0	1	0	1	0	0	0	2	1	2	1	1	2	3	5	1	2	5	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:154886357C>A	ENST00000460393.1	+	19	1977	c.1857C>A	c.(1855-1857)tcC>tcA	p.S619S	MME_ENST00000462745.1_Silent_p.S619S|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Silent_p.S619S|MME_ENST00000493237.1_Silent_p.S619S|MME_ENST00000492661.1_Silent_p.S619S	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	619					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AGGAGCAATCCCAGTGCATGG	0.393													36	74					2.86225e-05	4.18132e-05	1	0	A	154886357	C	A	154886357	2	1	106	1	0	0	0	0	0	0	0	1	9714	610	22	4		4	MME	3	154886357	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	3970103	154886357	43136073	71	20211											
KPNA4	3840	broad.mit.edu	37	chr3	160219947	160219947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgaattgaaaccaaatgttCcgccttgaattgcctctgga	12	12	8	9	1	1	3	0	3	1	0	2	4	2	4	4	1	2	1	4	1	4	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:160219947C>G	ENST00000334256.4	-	17	1816	c.1511G>C	c.(1510-1512)gGa>gCa	p.G504A		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	504					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACCAAATGTTCCGCCTTGAAT	0.348													15	205					0	0	0	0	G	160219947	C	G	160219947	3	3	106	1	0	0	0	0	1	0	0	0	8484	855	30	2	58	2	KPNA4	3	160219947	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	5333590	160219947	37802483	72	20212											
SLITRK3	22865	broad.mit.edu	37	chr3	164906545	164906545	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtccacaccttcctgccGcttgcttctgaagggcagct	7	10	10	14	1	1	1	0	1	1	0	3	1	3	1	4	2	3	4	4	2	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:164906545G>T	ENST00000475390.1	-	2	2517	c.2074C>A	c.(2074-2076)Cgg>Agg	p.R692R	SLITRK3_ENST00000241274.3_Silent_p.R692R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	692						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTCCTGCCGCTTGCTTCTG	0.572										HNSCC(40;0.11)			27	47					6.12954e-19	1.0966e-18	1	0	T	164906545	G	T	164906545	2	4	106	1	0	0	0	0	0	0	0	1	14832	1086	38	3		3	SLITRK3	3	164906545	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	4686598	164906545	33115885	73	20213											
TNIK	23043	broad.mit.edu	37	chr3	170819397	170819397	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcaatccggagttctcttAgttctttggctaatgccgtc	6	16	8	11	2	3	0	1	0	2	0	6	1	4	1	2	2	1	3	2	2	3	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:170819397A>G	ENST00000436636.2	-	22	2776	c.2432T>C	c.(2431-2433)cTa>cCa	p.L811P	TNIK_ENST00000369326.5_Missense_Mutation_p.L789P|TNIK_ENST00000538048.1_Missense_Mutation_p.L763P|TNIK_ENST00000475336.1_Missense_Mutation_p.L719P|TNIK_ENST00000488470.1_Missense_Mutation_p.L756P|TNIK_ENST00000470834.1_Missense_Mutation_p.L774P|TNIK_ENST00000357327.5_Missense_Mutation_p.L782P|TNIK_ENST00000341852.6_Missense_Mutation_p.L727P|TNIK_ENST00000284483.8_Missense_Mutation_p.L803P|TNIK_ENST00000460047.1_Missense_Mutation_p.L748P	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	811	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GAGTTCTCTTAGTTCTTTGGC	0.448													51	181					0	0	0	0	G	170819397	A	G	170819397	3	3	106	1	0	0	0	0	1	0	0	0	16407	420	15	5	1698	5	TNIK	3	170819397	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	5912852	170819397	27203033	74	20214											
ATP13A5	344905	broad.mit.edu	37	chr3	192994612	192994612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctccacgatgttatggttGggatcaactgttgaaaaaca	12	11	9	9	1	1	1	1	1	0	0	2	3	2	2	2	2	2	3	2	2	4	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:192994612G>T	ENST00000342358.4	-	29	3440	c.3323C>A	c.(3322-3324)cCa>cAa	p.P1108Q	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1108					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)		TGTTATGGTTGGGATCAACTG	0.308													16	44					7.07596e-05	0.00010268	1	0	T	192994612	G	T	192994612	3	4	106	1	0	0	0	0	1	0	0	0	1131	1348	47	4	339	4	ATP13A5	3	192994612	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	22175215	192994612	5027818	75	20215											
MUC4	4585	broad.mit.edu	37	chr3	195489041	195489041	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagcgcgatcaccgagAcggtggcccagccgtcgaag	9	4	16	12	6	1	2	1	0	0	2	2	6	1	2	3	3	2	0	3	3	1	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:195489041A>T	ENST00000463781.3	-	14	14888	c.14429T>A	c.(14428-14430)gTc>gAc	p.V4810D	MUC4_ENST00000475231.1_Missense_Mutation_p.V4758D|MUC4_ENST00000346145.4_Missense_Mutation_p.V574D|MUC4_ENST00000349607.4_Missense_Mutation_p.V523D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1567					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATCACCGAGACGGTGGCCCA	0.697													9	16					0	0	0	0	T	195489041	A	T	195489041	3	4	106	1	0	0	0	0	1	0	0	0	10048	275	10	5	1857	5	MUC4	3	195489041	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	2494429	195489041	2533389	76	20216											
FAM193A	8603	broad.mit.edu	37	chr4	2661595	2661595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgtgtggtatcatggaccCccccgtcactgatgacatcc	8	9	9	15	2	2	2	2	2	0	0	3	3	3	3	4	2	0	1	4	2	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:2661595C>T	ENST00000324666.5	+	8	1037	c.686C>T	c.(685-687)cCc>cTc	p.P229L	FAM193A_ENST00000505311.1_Missense_Mutation_p.P229L|FAM193A_ENST00000382839.3_Missense_Mutation_p.P229L|FAM193A_ENST00000502458.1_Missense_Mutation_p.P253L|FAM193A_ENST00000545951.1_Missense_Mutation_p.P229L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	229										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ATCATGGACCCCCCCGTCACT	0.522													31	35					0	0	0	0	T	2661595	C	T	2661595	3	4	106	1	0	0	0	0	1	0	0	0	5567	623	22	4	708	4	FAM193A	4	2661595	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08		2661595	188492681	77	20217											
KLHL5	51088	broad.mit.edu	37	chr4	39122661	39122661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctaggaagagctggagCttgtgttgtgactgtaaaat	10	12	14	5	0	0	2	0	1	0	1	0	4	0	4	1	2	3	4	1	2	4	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:39122661C>G	ENST00000261425.3	+	12	2257	c.2105C>G	c.(2104-2106)gCt>gGt	p.A702G	RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000508137.2_Missense_Mutation_p.A561G|KLHL5_ENST00000504108.1_Missense_Mutation_p.A748G|KLHL5_ENST00000261426.5_Missense_Mutation_p.A687G|KLHL5_ENST00000359687.2_Intron	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	748						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGAGCTGGAGCTTGTGTTGTG	0.363													8	33					0	0	0	0	G	39122661	C	G	39122661	3	3	106	1	0	0	0	0	1	0	0	0	8444	797	28	4	2285	4	KLHL5	4	39122661	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	36461066	39122661	152031615	78	20218											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984019	41984019	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatccctcctctttggcGagcgaccgatttaacttcat	7	14	8	12	3	2	0	1	0	1	0	4	4	4	1	3	2	2	0	3	2	1	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:41984019G>T	ENST00000333141.5	+	1	307	c.210G>T	c.(208-210)gcG>gcT	p.A70A		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	70										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CCTCTTTGGCGAGCGACCGAT	0.537													21	12					4.35082e-09	6.74842e-09	1	0	T	41984019	G	T	41984019	2	4	106	1	0	0	0	0	0	0	0	1	4304	1045	37	3		3	DCAF4L1	4	41984019	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	2861358	41984019	149170257	79	20219											
NPFFR2	10886	broad.mit.edu	37	chr4	73012771	73012771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcattattatgatcatctggGtcctagccatcaccattatg	10	15	6	10	0	4	1	3	1	1	0	5	1	5	1	3	1	1	0	3	1	4	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:73012771G>C	ENST00000308744.6	+	4	909	c.811G>C	c.(811-813)Gtc>Ctc	p.V271L	NPFFR2_ENST00000358749.3_Missense_Mutation_p.V169L|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.V172L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	271					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)			GATCATCTGGGTCCTAGCCAT	0.388													58	160					0	0	0	0	C	73012771	G	C	73012771	3	2	106	1	0	0	0	0	1	0	0	0	10648	1261	44	4	831	4	NPFFR2	4	73012771	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	31028752	73012771	118141505	80	20220											
WDFY3	23001	broad.mit.edu	37	chr4	85661382	85661382	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagtgggccagacagctaAtgaattcttggtcatggttc	10	11	12	8	0	2	2	1	1	1	1	3	2	2	2	1	3	2	3	1	3	2	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:85661382A>T	ENST00000322366.6	-	39	6829	c.6422T>A	c.(6421-6423)aTt>aAt	p.I2141N	WDFY3_ENST00000295888.4_Missense_Mutation_p.I2141N			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2141						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGACAGCTAATGAATTCTTG	0.423													31	67					0	0	0	0	T	85661382	A	T	85661382	3	4	106	1	0	0	0	0	1	0	0	0	17366	101	4	5	4278	5	WDFY3	4	85661382	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	12648611	85661382	105492894	81	20221											
PTPN13	5783	broad.mit.edu	37	chr4	87610317	87610317	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctacgtgaaacacttggtaAaactggttctgggaaatctt	12	12	9	8	1	2	1	0	1	2	0	2	2	2	2	1	3	3	2	1	3	5	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:87610317A>G	ENST00000436978.1	+	5	1000	c.520A>G	c.(520-522)Aaa>Gaa	p.K174E	PTPN13_ENST00000511467.1_Missense_Mutation_p.K174E|PTPN13_ENST00000411767.2_Missense_Mutation_p.K174E|PTPN13_ENST00000502971.1_Missense_Mutation_p.K174E|PTPN13_ENST00000427191.2_Missense_Mutation_p.K174E|PTPN13_ENST00000316707.6_Missense_Mutation_p.K174E	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	174	KIND.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACACTTGGTAAAACTGGTTCT	0.373													52	117					0	0	0	0	G	87610317	A	G	87610317	3	3	106	1	0	0	0	0	1	0	0	0	12862	15	1	5	534	5	PTPN13	4	87610317	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	1948935	87610317	103543959	82	20222											
ADH6	130	broad.mit.edu	37	chr4	100131356	100131356	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatttcctttatcactgtGtattcacagaaggtgctggt	9	15	10	7	0	2	2	2	0	0	2	3	3	3	2	1	2	1	2	1	2	3	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:100131356G>T	ENST00000394897.1	-	5	532	c.450C>A	c.(448-450)taC>taA	p.Y150*	ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000237653.7_Nonsense_Mutation_p.Y150*|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000394899.2_Nonsense_Mutation_p.Y150*|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	150					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TTATCACTGTGTATTCACAGA	0.433													37	61					8.73648e-17	1.5013e-16	1	0	T	100131356	G	T	100131356	4	4	106	1	0	0	0	0	0	1	0	0	312	1372	48	4	701	4	ADH6	4	100131356	Nonsense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	12521039	100131356	91022920	83	20223											
C4orf21	55345	broad.mit.edu	37	chr4	113461126	113461127	+	Frame_Shift_Ins	INS	-	-	T																															agtcaatgcaacattcattcINSttttttctgaatcaatgaat																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:113461126_113461127insT	ENST00000505019.1	-	27	6189_6190	c.6064_6065insA	c.(6064-6066)aatfs	p.N2022fs	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AACATTCATTCTTTTTTCTGAA	0.406													20	45	---	---	---	---					T	113461127	-	T	113461126	7	5	106	1	0	1	1	0	0	0	0	0	2275	913	32	0	257	0	C4orf21	4	113461126	Frame_Shift_Ins	INS	-	TCGA-CN-6992-01A-11D-1912-08	13329770	113461126	77693150	84	20224											
NDST4	64579	broad.mit.edu	37	chr4	115767118	115767118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaaacagaaagtcacttGtagtattggatggtgtaggg	12	13	12	4	0	2	1	2	0	0	1	2	2	2	2	0	3	1	3	0	3	5	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:115767118G>T	ENST00000264363.2	-	10	2654	c.1976C>A	c.(1975-1977)aCa>aAa	p.T659K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	659	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAAGTCACTTGTAGTATTGGA	0.388													24	42					1.1804e-14	1.98149e-14	1	0	T	115767118	G	T	115767118	3	4	106	1	0	0	0	0	1	0	0	0	10328	1377	48	4	662	4	NDST4	4	115767118	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	2305992	115767118	75387158	85	20225											
CCNA2	890	broad.mit.edu	37	chr4	122743676	122743678	+	In_Frame_Del	DEL	CTT	CTT	-																															attttttgagattcagctggCttcttctgagcttctttttc																								rs140275604	by1000genomes	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:122743676_122743678delCTT	ENST00000274026.5	-	2	640_642	c.337_339delAAG	c.(337-339)del	p.K113del		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	113					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ATTCAGCTGGCTTCTTCTGAGCT	0.433													10	130	---	---	---	---					-	122743678	CTT	-	122743676	7	5	106	1	0	1	0	1	0	0	0	0	2939	796	28	0	987	0	CCNA2	4	122743676	In_Frame_Del	DEL	CTT	TCGA-CN-6992-01A-11D-1912-08	6976558	122743676	68410600	86	20226											
PCDH10	57575	broad.mit.edu	37	chr4	134072572	134072572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccctggaccgagaggcggGggactcctacaccctgactg	7	5	13	16	2	0	2	0	1	0	1	1	5	1	4	5	4	1	0	5	4	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:134072572G>A	ENST00000264360.4	+	1	2103	c.1277G>A	c.(1276-1278)gGg>gAg	p.G426E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	426	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGAGAGGCGGGGGACTCCTAC	0.587													95	47					0	0	0	0	A	134072572	G	A	134072572	3	1	106	1	0	0	0	0	1	0	0	0	11578	1232	43	4	1279	4	PCDH10	4	134072572	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	11328896	134072572	57081704	87	20227											
POU4F2	5458	broad.mit.edu	37	chr4	147561489	147561489	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgagcgacgtggacgcCgacccgcgggacctggaggc	7	4	17	13	6	0	1	0	1	0	0	0	6	0	4	3	4	2	1	3	4	0	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:147561489C>A	ENST00000281321.3	+	2	1007	c.759C>A	c.(757-759)gcC>gcA	p.A253A		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	253	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGTGGACGCCGACCCGCGGG	0.682													13	3					4.36969e-10	6.90898e-10	1	0	A	147561489	C	A	147561489	2	1	106	1	0	0	0	0	0	0	0	1	12350	639	23	3		3	POU4F2	4	147561489	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	13488917	147561489	43592787	88	20228											
FBXW7	55294	broad.mit.edu	37	chr4	153247228	153247228	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagtctctggatcccacAcctttaccataaaatcatat	12	14	3	12	0	3	0	2	0	1	0	5	1	4	1	3	1	1	0	3	1	4	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:153247228A>T	ENST00000281708.4	-	10	2803	c.1574T>A	c.(1573-1575)gTg>gAg	p.V525E	FBXW7_ENST00000603548.1_Missense_Mutation_p.V525E|FBXW7_ENST00000393956.3_Missense_Mutation_p.V349E|FBXW7_ENST00000263981.5_Missense_Mutation_p.V445E|FBXW7_ENST00000603841.1_Missense_Mutation_p.V525E|FBXW7_ENST00000296555.5_Missense_Mutation_p.V407E	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	525					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGGATCCCACACCTTTACCAT	0.428			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								39	30					0	0	0	0	T	153247228	A	T	153247228	3	4	106	1	0	0	0	0	1	0	0	0	5814	159	6	5	561	5	FBXW7	4	153247228	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	5685739	153247228	37907048	89	20229											
RXFP1	59350	broad.mit.edu	37	chr4	159568073	159568073	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgtaggatctttggcCattctgtccacagaagtatc	9	13	9	10	0	2	1	0	0	2	1	4	2	3	2	2	2	1	3	2	2	3	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:159568073C>A	ENST00000307765.5	+	16	1727	c.1476C>A	c.(1474-1476)gcC>gcA	p.A492A	RXFP1_ENST00000460056.2_Silent_p.A411A|RXFP1_ENST00000448688.2_Silent_p.A387A|RXFP1_ENST00000343542.5_Silent_p.A444A|RXFP1_ENST00000470033.1_Silent_p.A459A	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	492						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GATCTTTGGCCATTCTGTCCA	0.408													29	21					1.08312e-15	1.84668e-15	1	0	A	159568073	C	A	159568073	2	1	106	1	0	0	0	0	0	0	0	1	13844	581	21	4		4	RXFP1	4	159568073	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	6320845	159568073	31586203	90	20230											
MARCH1	55016	broad.mit.edu	37	chr4	164534544	164534544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgttgttgggctgcttGcctggagaaacaagttagat	8	13	12	8	0	0	2	0	0	0	2	1	3	1	2	2	2	3	5	2	2	3	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:164534544G>T	ENST00000339875.5	-	1	142	c.113C>A	c.(112-114)gCa>gAa	p.A38E	MARCH1_ENST00000503008.1_Splice_Site_p.A55_splice|MARCH1_ENST00000514618.1_Splice_Site_p.A55_splice|MARCH1_ENST00000274056.7_Splice_Site_p.A55_splice	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	55	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGGCTGCTTGCCTGGAGAAA	0.413													18	19					3.51602e-12	5.76874e-12	1	0	T	164534544	G	T	164534544	3	4	106	1	0	0	0	0	1	0	0	0	9367	1333	46	4	721	4	MARCH1	4	164534544	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	4966471	164534544	26619732	91	20231											
TRIML2	205860	broad.mit.edu	37	chr4	189012609	189012609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtctccatttgggataCagagggaaaacacaggcctg	11	10	12	8	0	1	1	0	0	1	1	2	3	1	3	2	3	2	0	2	3	3	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:189012609C>A	ENST00000512729.1	-	7	1456	c.1082G>T	c.(1081-1083)tGt>tTt	p.C361F	TRIML2_ENST00000326754.3_Missense_Mutation_p.C386F	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	361	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATTTGGGATACAGAGGGAAAA	0.463													45	71					1.89013e-27	3.5467e-27	1	0	A	189012609	C	A	189012609	3	1	106	1	0	0	0	0	1	0	0	0	16646	478	17	4	85	4	TRIML2	4	189012609	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	24478065	189012609	2141667	92	20232											
SLC12A7	10723	broad.mit.edu	37	chr5	1094289	1094289	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaaaagtgccatgttctTcccttcaaagaagctctctt	10	13	6	12	1	3	1	1	0	2	1	6	2	4	1	2	0	2	2	2	0	4	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:1094289T>C	ENST00000264930.5	-	2	242	c.199A>G	c.(199-201)Aag>Gag	p.K67E		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	67					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCCATGTTCTTCCCTTCAAAG	0.468													6	98					0	0	0	0	C	1094289	T	C	1094289	3	2	106	1	0	0	0	0	1	0	0	0	14476	1792	62	5	3144	5	SLC12A7	5	1094289	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08		1094289	179820971	93	20233											
IRX2	153572	broad.mit.edu	37	chr5	2749623	2749623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggggcccaggtcatcttGttctccttcttgaggcgccg	3	12	12	14	3	4	1	1	1	3	0	6	1	4	1	3	4	0	1	3	4	0	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:2749623G>C	ENST00000382611.6	-	2	776	c.528C>G	c.(526-528)aaC>aaG	p.N176K	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.N176K	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	176						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		AGGTCATCTTGTTCTCCTTCT	0.602													45	78					0	0	0	0	C	2749623	G	C	2749623	3	2	106	1	0	0	0	0	1	0	0	0	7897	1368	48	4	899	4	IRX2	5	2749623	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1655334	2749623	178165637	94	20234											
KIAA0947	23379	broad.mit.edu	37	chr5	5457653	5457653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaccatgtttttaatgaGaatggaaatcttgaggtttt	11	17	9	4	0	2	3	0	3	2	1	2	5	2	4	1	2	0	2	1	2	3	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:5457653G>T	ENST00000296564.7	+	12	1122	c.900G>T	c.(898-900)gaG>gaT	p.E300D		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	300										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTTTTAATGAGAATGGAAATC	0.358													31	52					1.30897e-18	2.33541e-18	1	0	T	5457653	G	T	5457653	3	4	106	1	0	0	0	0	1	0	0	0	8253	933	33	2	946	2	KIAA0947	5	5457653	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	2708030	5457653	175457607	95	20235											
ADCY2	108	broad.mit.edu	37	chr5	7826964	7826964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtcaaggtccctttccCagagcaacgtggcatcctga	11	9	9	12	1	1	2	1	1	0	1	4	2	4	2	3	2	2	2	3	2	3	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:7826964C>A	ENST00000338316.4	+	25	3345	c.3256C>A	c.(3256-3258)Cag>Aag	p.Q1086K	ADCY2_ENST00000537121.1_Missense_Mutation_p.Q906K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1086					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTCCCTTTCCCAGAGCAACGT	0.468													44	72					4.01344e-20	7.34111e-20	1	0	A	7826964	C	A	7826964	3	1	106	1	0	0	0	0	1	0	0	0	294	595	21	4	3354	4	ADCY2	5	7826964	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	2369311	7826964	173088296	96	20236											
MARCH6	10299	broad.mit.edu	37	chr5	10405687	10405687	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggtacttcgacctggtgtCctgtggtttctaaggaattt	7	15	11	8	1	1	0	0	0	1	0	3	2	2	1	2	4	1	2	2	4	3	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:10405687C>T	ENST00000274140.5	+	16	1482	c.1350C>T	c.(1348-1350)gtC>gtT	p.V450V	MARCH6_ENST00000449913.2_Silent_p.V402V|MARCH6_ENST00000510792.1_Silent_p.V148V|MARCH6_ENST00000503788.1_Silent_p.V345V	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	450					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GACCTGGTGTCCTGTGGTTTC	0.323													38	43					0	0	0	0	T	10405687	C	T	10405687	2	4	106	1	0	0	0	0	0	0	0	1	9374	842	30	2		2	MARCH6	5	10405687	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	2578723	10405687	170509573	97	20237											
ZNF131	7690	broad.mit.edu	37	chr5	43161390	43161390	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttagaggaaaataccacAggaaaaaatgaggccaaaaa	21	4	8	8	0	0	2	0	1	0	1	0	4	0	4	3	3	1	0	3	3	9	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:43161390A>T	ENST00000509634.1	+	4	867	c.411A>T	c.(409-411)acA>acT	p.T137T	ZNF131_ENST00000306938.4_Silent_p.T137T|ZNF131_ENST00000509156.1_Silent_p.T137T|ZNF131_ENST00000399534.1_Silent_p.T137T|ZNF131_ENST00000505606.2_Silent_p.T137T|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	137						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAAATACCACAGGAAAAAATG	0.363													18	46					0	0	0	0	T	43161390	A	T	43161390	2	4	106	1	0	0	0	0	0	0	0	1	17816	175	7	5		5	ZNF131	5	43161390	Silent	SNP	A	TCGA-CN-6992-01A-11D-1912-08	32755703	43161390	137753870	98	20238											
HCN1	348980	broad.mit.edu	37	chr5	45262557	45262557	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatagtggaaagttcgagcGgccagagggctctgtacagg	10	7	16	8	2	1	1	0	0	1	1	2	3	1	2	1	4	2	4	1	4	3	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:45262557G>C	ENST00000303230.4	-	8	2196	c.2139C>G	c.(2137-2139)gcC>gcG	p.A713A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	713						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AAGTTCGAGCGGCCAGAGGGC	0.657													7	17					0	0	0	0	C	45262557	G	C	45262557	2	2	106	1	0	0	0	0	0	0	0	1	7046	1103	39	3		3	HCN1	5	45262557	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	2101167	45262557	135652703	99	20239											
HCN1	348980	broad.mit.edu	37	chr5	45396705	45396705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcatgctcagcatggtaatCcagaggtcagacatgctgac	12	9	10	10	0	3	3	3	1	0	2	4	3	4	3	1	2	3	4	1	2	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:45396705C>A	ENST00000303230.4	-	4	1176	c.1119G>T	c.(1117-1119)tgG>tgT	p.W373C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	373						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCATGGTAATCCAGAGGTCAG	0.532													21	64					2.4624e-09	3.82844e-09	1	0	A	45396705	C	A	45396705	3	1	106	1	0	0	0	0	1	0	0	0	7046	856	30	2	1573	2	HCN1	5	45396705	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	134148	45396705	135518555	100	20240											
HCN1	348980	broad.mit.edu	37	chr5	45695881	45695881	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggagggagaatttgttgacCccgggctgcagcatggaggt	8	8	17	8	2	0	2	0	1	0	1	0	5	0	4	2	5	2	4	2	5	1	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:45695881C>A	ENST00000303230.4	-	1	372	c.315G>T	c.(313-315)ggG>ggT	p.G105G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	105	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATTTGTTGACCCCGGGCTGCA	0.622													15	36					0.000422831	0.000605502	1	0	A	45695881	C	A	45695881	2	1	106	1	0	0	0	0	0	0	0	1	7046	610	22	4		4	HCN1	5	45695881	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	299176	45695881	135219379	101	20241											
ZNF366	167465	broad.mit.edu	37	chr5	71756259	71756259	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactggcgtgcttggcttcGtgggccttgagctcgctggg	2	11	16	12	3	0	1	0	1	0	0	2	1	0	1	2	4	2	4	2	4	0	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:71756259G>A	ENST00000318442.5	-	2	1555	c.1065C>T	c.(1063-1065)caC>caT	p.H355H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCTTGGCTTCGTGGGCCTTGA	0.662													5	8					0	0	0	0	A	71756259	G	A	71756259	2	1	106	1	0	0	0	0	0	0	0	1	17965	1136	40	1		1	ZNF366	5	71756259	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	26060378	71756259	109159001	102	20242											
LIX1	167410	broad.mit.edu	37	chr5	96443064	96443064	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccatggtgggtactcacGctggtggaggctactgcttc	5	11	13	12	1	1	0	1	0	0	0	3	1	2	1	2	5	3	4	2	5	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:96443064G>T	ENST00000274382.4	-	3	682	c.387_splice	c.e3+1	p.S129_splice	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	129										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GGGTACTCACGCTGGTGGAGG	0.463													24	25					5.45024e-15	9.1964e-15	1	0	T	96443064	G	T	96443064	5	4	106	1	0	0	0	0	0	0	1	0	8886	1101	38	3	477	3	LIX1	5	96443064	Splice_Site	SNP	G	TCGA-CN-6992-01A-11D-1912-08	24686805	96443064	84472196	103	20243											
PCDHB7	56129	broad.mit.edu	37	chr5	140553886	140553886	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggtcatctactccctGctgccgtcccaggacccgca	6	7	9	19	2	2	0	1	0	1	0	4	1	4	1	5	2	3	2	5	2	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:140553886G>C	ENST00000231137.3	+	1	1644	c.1470G>C	c.(1468-1470)ctG>ctC	p.L490L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		490	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTACTCCCTGCTGCCGTCCC	0.662													41	37					0	0	0	0	C	140553886	G	C	140553886	2	2	106	1	0	0	0	0	0	0	0	1	11618	1306	46	4		4	PCDHB7	5	140553886	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	44110822	140553886	40361374	104	20244											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751528	140751528	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcgagccttcgaccacGagcagctgcgtgccttcgag	7	6	13	15	6	0	0	0	0	0	0	2	4	0	0	3	0	6	3	3	0	0	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:140751528G>T	ENST00000576222.1	+	1	1698	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGACCACGAGCAGCTGCG	0.687													13	19					1.5842e-08	2.41702e-08	1	0	T	140751528	G	T	140751528	4	4	106	1	0	0	0	0	0	1	0	0	11635	1059	37	3	1569	3	PCDHGB3	5	140751528	Nonsense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	197642	140751528	40163732	105	20245											
DOCK2	1794	broad.mit.edu	37	chr5	169509800	169509800	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtttattctctcaaaagCtggccagcaaatcggctgaa	11	12	8	10	1	2	1	1	1	1	0	4	1	2	1	1	2	2	4	1	2	5	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:169509800C>T	ENST00000256935.8	+	52	5511	c.5430_splice	c.e52-1	p.L1811_splice	DOCK2_ENST00000520908.1_Splice_Site_p.L1303_splice|DOCK2_ENST00000540750.1_Splice_Site_p.L872_splice|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1811					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTCAAAAGCTGGCCAGCAA	0.512													19	16					0	0	0	0	T	169509800	C	T	169509800	5	4	106	1	0	0	0	0	0	0	1	0	4723	811	28	4	5637	4	DOCK2	5	169509800	Splice_Site	SNP	C	TCGA-CN-6992-01A-11D-1912-08	28758272	169509800	11405460	106	20246											
GABRP	2568	broad.mit.edu	37	chr5	170238960	170238960	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcattgtctatgaactagGggacaacaaaggaagtagaa	16	8	11	6	0	1	2	0	1	1	1	1	4	1	4	0	3	3	2	0	3	8	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:170238960G>A	ENST00000518525.1	+	11	1485	c.1020_splice	c.e11-1	p.G341_splice	GABRP_ENST00000265294.4_Splice_Site_p.G341_splice|GABRP_ENST00000519385.1_Splice_Site_p.G278_splice			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	341						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TATGAACTAGGGGACAACAAA	0.358													27	19					0	0	0	0	A	170238960	G	A	170238960	5	1	106	1	0	0	0	0	0	0	1	0	6222	1246	43	4	1055	4	GABRP	5	170238960	Splice_Site	SNP	G	TCGA-CN-6992-01A-11D-1912-08	729160	170238960	10676300	107	20247											
TBC1D9B	23061	broad.mit.edu	37	chr5	179296770	179296770	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcaggaggctctcaccTgggggaaggtgtagcttgta	7	9	18	7	0	1	0	1	0	1	0	2	2	1	2	1	6	1	5	1	6	3	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:179296770T>A	ENST00000356834.3	-	17	2827	c.2791_splice	c.e17+1	p.P930_splice	TBC1D9B_ENST00000355235.3_Splice_Site_p.P930_splice|TBC1D9B_ENST00000519746.1_Splice_Site_p.P106_splice|TBC1D9B_ENST00000444477.2_Splice_Site_p.P88_splice	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	930						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTCTCACCTGGGGGAAGGT	0.632													6	7					0	0	0	0	A	179296770	T	A	179296770	5	1	106	1	0	0	0	0	0	0	1	0	15722	1594	55	5	986	5	TBC1D9B	5	179296770	Splice_Site	SNP	T	TCGA-CN-6992-01A-11D-1912-08	9057810	179296770	1618490	108	20248											
MGAT1	4245	broad.mit.edu	37	chr5	180218667	180218667	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcatagccctcccacgtCagtgggggcgccaggtggac	7	6	15	13	2	2	0	2	0	0	0	3	2	3	2	3	5	1	0	3	5	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:180218667C>A	ENST00000446023.2	-	3	2055	c.1305G>T	c.(1303-1305)ctG>ctT	p.L435L	MGAT1_ENST00000393340.3_Silent_p.L435L|MGAT1_ENST00000427865.2_Silent_p.L435L|MGAT1_ENST00000307826.4_Silent_p.L435L|MGAT1_ENST00000333055.3_Silent_p.L435L	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	435			L -> P (in dbSNP:rs634501).		post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCCCACGTCAGTGGGGGCG	0.622													19	20					5.35356e-11	8.61053e-11	1	0	A	180218667	C	A	180218667	2	1	106	1	0	0	0	0	0	0	0	1	9611	813	29	2		2	MGAT1	5	180218667	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	921897	180218667	696593	109	20249											
BTNL3	10917	broad.mit.edu	37	chr5	180429673	180429673	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgggactgtttttcagaGacgtttttccagccctcacc	6	14	9	12	1	2	1	2	0	0	1	3	3	3	2	3	1	1	2	3	1	0	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:180429673G>A	ENST00000342868.6	+	4	859	c.673_splice	c.e4-1	p.E225_splice		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	225					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GTTTTTCAGAGACGTTTTTCC	0.458													28	17					0	0	0	0	A	180429673	G	A	180429673	5	1	106	1	0	0	0	0	0	0	1	0	1575	956	33	2	689	2	BTNL3	5	180429673	Splice_Site	SNP	G	TCGA-CN-6992-01A-11D-1912-08	211006	180429673	485587	110	20250											
GCNT2	2651	broad.mit.edu	37	chr6	10529180	10529180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcactgtctttttagcgcGtctcttatctctgccctgat	6	16	7	12	2	3	1	0	1	3	0	5	1	3	1	1	0	3	1	1	0	3	4	rs142352495	by1000genomes	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:10529180G>A	ENST00000379597.3	+	1	592	c.36G>A	c.(34-36)gcG>gcA	p.A12A	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Silent_p.A12A			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	12						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTTTTAGCGCGTCTCTTATCT	0.388													19	81					0	0	0	0	A	10529180	G	A	10529180	2	1	106	1	0	0	0	0	0	0	0	1	6350	1132	40	1		1	GCNT2	6	10529180	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08		10529180	160585887	111	20251											
KIAA0319	9856	broad.mit.edu	37	chr6	24581232	24581232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttgaagacataaagtcCgacggacaactgtaacataa	17	8	8	8	2	0	2	0	1	0	1	1	5	1	3	1	1	2	1	1	1	6	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:24581232C>T	ENST00000535378.1	-	8	1816	c.1174G>A	c.(1174-1176)Gga>Aga	p.G392R	KIAA0319_ENST00000430948.2_Missense_Mutation_p.G356R|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G401R|KIAA0319_ENST00000537886.1_Missense_Mutation_p.G401R|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G401R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	401	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.G401R(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACATAAAGTCCGACGGACAAC	0.423											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	105					0	0	0	0	T	24581232	C	T	24581232	3	4	106	1	0	0	0	0	1	0	0	0	8219	661	23	1	2077	1	KIAA0319	6	24581232	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	14052052	24581232	146533835	112	20252											
PGBD1	84547	broad.mit.edu	37	chr6	28269721	28269721	+	Frame_Shift_Del	DEL	T	T	-																															tggggatggcattatcagtcTgtgctccaatgctgtgggca																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:28269721delT	ENST00000405948.2	+	7	2510	c.2090delT	c.(2089-2091)cgfs	p.L697fs	PGBD1_ENST00000259883.3_Frame_Shift_Del_p.L697fs	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	697					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATTATCAGTCTGTGCTCCAAT	0.383													37	71	---	---	---	---					-	28269721	T	-	28269721	7	5	106	1	0	1	0	1	0	0	0	0	11852	1580	55	0	2112	0	PGBD1	6	28269721	Frame_Shift_Del	DEL	T	TCGA-CN-6992-01A-11D-1912-08	3688489	28269721	142845346	113	20253											
ABCF1	23	broad.mit.edu	37	chr6	30557701	30557701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgcaagtgcctgggccGcttcggcctggagagtcacg	5	7	15	14	4	1	1	1	0	0	1	2	2	1	1	4	3	2	2	4	3	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:30557701G>T	ENST00000326195.8	+	22	2295	c.2183G>T	c.(2182-2184)cGc>cTc	p.R728L	ABCF1_ENST00000396515.4_Missense_Mutation_p.R121L|ABCF1_ENST00000376545.3_Missense_Mutation_p.R690L	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	728	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGCCTGGGCCGCTTCGGCCTG	0.612													54	124					3.30226e-22	6.09146e-22	1	0	T	30557701	G	T	30557701	3	4	106	1	0	0	0	0	1	0	0	0	65	1087	38	3	2269	3	ABCF1	6	30557701	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	2287980	30557701	140557366	114	20254											
MDC1	9656	broad.mit.edu	37	chr6	30672319	30672319	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagatgtgggctcaggggtGacaggttggtctgtggaggt	6	10	20	5	1	2	2	1	1	1	1	2	4	2	3	0	7	0	2	0	7	0	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:30672319G>C	ENST00000376406.3	-	10	5288	c.4641C>G	c.(4639-4641)gtC>gtG	p.V1547V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.V1283V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1547	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GCTCAGGGGTGACAGGTTGGT	0.567								Other conserved DNA damage response genes					48	209					0	0	0	0	C	30672319	G	C	30672319	2	2	106	1	0	0	0	0	0	0	0	1	9472	1277	45	2		2	MDC1	6	30672319	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	114618	30672319	140442748	115	20255											
MDC1	9656	broad.mit.edu	37	chr6	30673202	30673202	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggctggtctgtggaggtgGaaggctggagctcaggggct	6	8	20	7	0	2	0	1	0	1	0	2	3	2	3	0	9	1	4	0	9	1	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:30673202G>T	ENST00000376406.3	-	10	4405	c.3758C>A	c.(3757-3759)tCc>tAc	p.S1253Y	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S989Y	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1253	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGTGGAGGTGGAAGGCTGGAG	0.532								Other conserved DNA damage response genes					64	262					7.65386e-43	1.50541e-42	1	0	T	30673202	G	T	30673202	3	4	106	1	0	0	0	0	1	0	0	0	9472	1174	41	2	2535	2	MDC1	6	30673202	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	883	30673202	140441865	116	20256											
DAAM2	23500	broad.mit.edu	37	chr6	39869182	39869182	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggccttctcagaggcccgGcaggatctagaggccatgag	9	6	14	12	1	2	3	1	1	2	2	3	4	2	4	3	5	0	1	3	5	1	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:39869182G>T	ENST00000538976.1	+	24	3095	c.2913G>T	c.(2911-2913)cgG>cgT	p.R971R	DAAM2_ENST00000398904.2_Silent_p.R972R|DAAM2_ENST00000274867.4_Silent_p.R972R	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	972	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R971R(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGAGGCCCGGCAGGATCTAG	0.607													36	58					1.26612e-14	2.11993e-14	1	0	T	39869182	G	T	39869182	2	4	106	1	0	0	0	0	0	0	0	1	4249	1190	42	4		4	DAAM2	6	39869182	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	9195980	39869182	131245885	117	20257											
SLC29A1	2030	broad.mit.edu	37	chr6	44197181	44197181	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgggaacgctgctcccGtggaattttttcatgacggc	6	12	13	10	3	2	1	1	1	1	0	3	3	3	3	1	4	2	2	1	4	2	3	rs8187630	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:44197181G>A	ENST00000393841.1	+	4	575	c.84G>A	c.(82-84)ccG>ccA	p.P28P	SLC29A1_ENST00000371713.1_Silent_p.P28P|SLC29A1_ENST00000427851.2_Silent_p.P28P|SLC29A1_ENST00000313248.7_Silent_p.P107P|SLC29A1_ENST00000371708.1_Silent_p.P28P|SLC29A1_ENST00000371731.1_Silent_p.P28P|SLC29A1_ENST00000371724.1_Silent_p.P28P|SLC29A1_ENST00000371755.3_Silent_p.P28P|SLC29A1_ENST00000371740.5_Silent_p.P28P|SLC29A1_ENST00000393844.1_Silent_p.P28P	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	28					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	CGCTGCTCCCGTGGAATTTTT	0.562													25	100					0	0	0	0	A	44197181	G	A	44197181	2	1	106	1	0	0	0	0	0	0	0	1	14622	1132	40	1		1	SLC29A1	6	44197181	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	4327999	44197181	126917886	118	20258											
OPN5	221391	broad.mit.edu	37	chr6	47775957	47775957	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtggtgtctgtgtggtCagcttttggaaggccagact	6	13	15	7	0	2	1	1	0	1	1	2	2	2	2	1	4	2	2	1	4	1	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:47775957C>A	ENST00000489301.2	+	5	909	c.824C>A	c.(823-825)tCa>tAa	p.S275*	OPN5_ENST00000371211.2_Nonsense_Mutation_p.S275*|OPN5_ENST00000393699.2_Nonsense_Mutation_p.S275*|OPN5_ENST00000244799.4_3'UTR			Q6U736	OPN5_HUMAN	opsin 5	275					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TCTGTGTGGTCAGCTTTTGGA	0.463													71	131					5.98616e-33	1.13964e-32	1	0	A	47775957	C	A	47775957	4	1	106	1	0	0	0	0	0	1	0	0	10954	838	29	2	842	2	OPN5	6	47775957	Nonsense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	3578776	47775957	123339110	119	20259											
PKHD1	5314	broad.mit.edu	37	chr6	51695776	51695776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaagctgattcaggggCagaggtagaagctagaaaat	15	10	12	4	0	1	4	1	1	0	3	1	4	1	4	0	3	2	4	0	3	7	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:51695776C>T	ENST00000371117.3	-	52	8460	c.8185G>A	c.(8185-8187)Gcc>Acc	p.A2729T	PKHD1_ENST00000340994.4_Missense_Mutation_p.A2729T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2729					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GATTCAGGGGCAGAGGTAGAA	0.393													15	32					0	0	0	0	T	51695776	C	T	51695776	3	4	106	1	0	0	0	0	1	0	0	0	12043	710	25	4	4142	4	PKHD1	6	51695776	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	3919819	51695776	119419291	120	20260											
GSTA5	221357	broad.mit.edu	37	chr6	52697722	52697722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgtagtagaaaagttccaCcaggtgaatgtcagcccagc	13	7	10	11	1	1	2	1	1	0	1	2	2	2	2	3	1	2	3	3	1	5	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:52697722C>A	ENST00000370989.1	-	6	639	c.481G>T	c.(481-483)Gtg>Ttg	p.V161L	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.V161L			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	161	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	AAAAGTTCCACCAGGTGAATG	0.502													41	90					9.62906e-15	1.62056e-14	1	0	A	52697722	C	A	52697722	3	1	106	1	0	0	0	0	1	0	0	0	6884	507	18	4	195	4	GSTA5	6	52697722	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1001946	52697722	118417345	121	20261											
LGSN	51557	broad.mit.edu	37	chr6	63990707	63990707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctcgacattggctccaGtgtgatacaagccatcaaca	13	9	7	12	1	2	1	1	1	1	0	4	2	3	1	2	1	4	1	2	1	4	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:63990707G>T	ENST00000370657.4	-	4	782	c.749C>A	c.(748-750)aCt>aAt	p.T250N	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	250					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ATTGGCTCCAGTGTGATACAA	0.388													19	28					2.39187e-15	4.05687e-15	1	0	T	63990707	G	T	63990707	3	4	106	1	0	0	0	0	1	0	0	0	8813	1029	36	4	784	4	LGSN	6	63990707	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	11292985	63990707	107124360	122	20262											
PHF3	23469	broad.mit.edu	37	chr6	64401851	64401851	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaatggagtgtgaaaagcTtggattatcaaaacacacaa	19	8	8	6	0	1	1	1	1	0	0	1	3	1	3	0	2	3	1	0	2	8	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:64401851T>G	ENST00000262043.3	+	5	2754	c.2414T>G	c.(2413-2415)cTt>cGt	p.L805R	PHF3_ENST00000393387.1_Missense_Mutation_p.L805R			Q92576	PHF3_HUMAN	PHD finger protein 3	805					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGTGAAAAGCTTGGATTATCA	0.338													12	20					0	0	0	0	G	64401851	T	G	64401851	3	3	106	1	0	0	0	0	1	0	0	0	11908	1609	56	5	2428	5	PHF3	6	64401851	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	411144	64401851	106713216	123	20263											
DPPA5	340168	broad.mit.edu	37	chr6	74063748	74063748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtaagggattcgagatccGtccgggcctgttggggaaaa	10	9	15	7	3	0	1	0	0	0	1	3	4	2	3	3	4	0	2	3	4	3	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:74063748G>A	ENST00000370370.3	-	2	189	c.120C>T	c.(118-120)gaC>gaT	p.D40D		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	40	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						TTCGAGATCCGTCCGGGCCTG	0.612													11	40					0	0	0	0	A	74063748	G	A	74063748	2	1	106	1	0	0	0	0	0	0	0	1	4773	1136	40	1		1	DPPA5	6	74063748	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	9661897	74063748	97051319	124	20264											
SNAP91	9892	broad.mit.edu	37	chr6	84302213	84302213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgaagaatccacctttgCtggcgaggcagtggttgcag	9	9	13	10	1	0	2	0	1	0	1	1	3	1	2	3	3	2	4	3	3	2	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:84302213C>G	ENST00000428679.2	-	21	2484	c.1891G>C	c.(1891-1893)Gca>Cca	p.A631P	SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.A631P|SNAP91_ENST00000195649.6_Missense_Mutation_p.A631P|SNAP91_ENST00000520302.1_Intron|SNAP91_ENST00000439399.2_Missense_Mutation_p.A631P|SNAP91_ENST00000369694.2_Missense_Mutation_p.A631P|SNAP91_ENST00000521743.1_Missense_Mutation_p.A631P|SNAP91_ENST00000520213.1_Intron			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	631					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCCACCTTTGCTGGCGAGGCA	0.438													6	14					0	0	0	0	G	84302213	C	G	84302213	3	3	106	1	0	0	0	0	1	0	0	0	14921	797	28	4	868	4	SNAP91	6	84302213	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	10238465	84302213	86812854	125	20265											
CGA	1081	broad.mit.edu	37	chr6	87796070	87796070	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagtgggatatgctctagaGaagcagcagcccatgcactg	11	7	14	9	0	1	1	0	0	1	1	1	4	1	3	1	2	5	4	1	2	3	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:87796070G>C	ENST00000369582.2	-	3	271	c.171C>G	c.(169-171)ttC>ttG	p.F57L		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	57					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		ATGCTCTAGAGAAGCAGCAGC	0.473													50	113					0	0	0	0	C	87796070	G	C	87796070	3	2	106	1	0	0	0	0	1	0	0	0	3324	933	33	2	187	2	CGA	6	87796070	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	3493857	87796070	83318997	126	20266											
GPRC6A	222545	broad.mit.edu	37	chr6	117150007	117150007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactcctggatttgtggtCgtctgggagagtcttctgag	6	13	13	9	1	3	2	0	1	3	1	5	4	4	3	1	3	0	0	1	3	0	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:117150007C>A	ENST00000310357.3	-	1	191	c.170G>T	c.(169-171)cGa>cTa	p.R57L	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R57L|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R57L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	57					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GATTTGTGGTCGTCTGGGAGA	0.403													11	55					1.61879e-10	2.58453e-10	1	0	A	117150007	C	A	117150007	3	1	106	1	0	0	0	0	1	0	0	0	6778	884	31	3	2634	3	GPRC6A	6	117150007	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	29353937	117150007	53965060	127	20267											
ROS1	6098	broad.mit.edu	37	chr6	117678071	117678071	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attggaaacttctgtccaatAcaagcgactatagaggaaaa	17	9	8	7	1	1	1	0	0	1	1	2	4	2	3	1	2	3	0	1	2	8	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:117678071A>C	ENST00000368508.3	-	25	4060	c.3862T>G	c.(3862-3864)Tat>Gat	p.Y1288D	ROS1_ENST00000368507.3_Missense_Mutation_p.Y1283D|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1288					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTGTCCAATACAAGCGACTA	0.378			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								3	45					0	0	0	0	C	117678071	A	C	117678071	3	2	106	1	0	0	0	0	1	0	0	0	13616	391	14	5	3257	5	ROS1	6	117678071	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	528064	117678071	53436996	128	20268											
CLVS2	134829	broad.mit.edu	37	chr6	123369837	123369837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtatatccatgccctgtacaCcgtgatccggcctttcctga	7	12	8	14	2	0	2	0	2	0	0	3	2	3	2	6	1	2	2	6	1	3	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:123369837C>T	ENST00000275162.4	+	4	1970	c.635C>T	c.(634-636)aCc>aTc	p.T212I	CLVS2_ENST00000368438.1_Missense_Mutation_p.T66I	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	212	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GCCCTGTACACCGTGATCCGG	0.393													61	127					0	0	0	0	T	123369837	C	T	123369837	3	4	106	1	0	0	0	0	1	0	0	0	3602	507	18	4	645	4	CLVS2	6	123369837	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	5691766	123369837	47745230	129	20269											
OLIG3	167826	broad.mit.edu	37	chr6	137814987	137814987	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtagggcatgacttcGcgcagcccgtccatggctag	6	8	14	13	5	0	1	0	1	0	0	2	1	1	1	2	2	2	4	2	2	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:137814987G>A	ENST00000367734.2	-	1	544	c.321C>T	c.(319-321)cgC>cgT	p.R107R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	107	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GCATGACTTCGCGCAGCCCGT	0.612													17	73					0	0	0	0	A	137814987	G	A	137814987	2	1	106	1	0	0	0	0	0	0	0	1	10933	1074	38	1		1	OLIG3	6	137814987	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	14445150	137814987	33300080	130	20270											
SHPRH	257218	broad.mit.edu	37	chr6	146271502	146271502	+	Missense_Mutation	SNP	C	C	A																															caatgcaggatgctggacatCcacttggatggactgcgttt																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:146271502C>A	ENST00000367503.3	-	4	1278	c.880G>T	c.(880-882)Gat>Tat	p.D294Y	SHPRH_ENST00000275233.7_Missense_Mutation_p.D294Y|SHPRH_ENST00000367505.2_Missense_Mutation_p.D294Y|SHPRH_ENST00000438092.2_Missense_Mutation_p.D294Y	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	294					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCTGGACATCCACTTGGATG	0.478													51	96					1.32667e-27	2.49659e-27	1	0	A	146271502	C	A	146271502	3	1	106	1	0	0	0	0	1	0	0	0	14379	855	30	2	4323	2	SHPRH	6	146271502	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	8456515	146271502	24843565	131	20271	168	2									
SHPRH	257218	broad.mit.edu	37	chr6	146271503	146271503	+	Silent	SNP	C	C	T																															aatgcaggatgctggacatcCacttggatggactgcgtttc																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:146271503C>T	ENST00000367503.3	-	4	1277	c.879G>A	c.(877-879)gtG>gtA	p.V293V	SHPRH_ENST00000275233.7_Silent_p.V293V|SHPRH_ENST00000367505.2_Silent_p.V293V|SHPRH_ENST00000438092.2_Silent_p.V293V	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	293					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GCTGGACATCCACTTGGATGG	0.473													51	97					0	0	0	0	T	146271503	C	T	146271503	2	4	106	1	0	0	0	0	0	0	0	1	14379	581	21	4		4	SHPRH	6	146271503	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1	146271503	24843564	132	20272	168	2									
PLEKHG1	57480	broad.mit.edu	37	chr6	151055105	151055105	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtggagagtggactcaaaCggggcacccaagacgatcgc	12	4	14	11	3	1	2	1	0	0	2	2	5	1	3	1	4	1	1	1	4	2	0	rs141401834		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:151055105C>T	ENST00000367328.1	+	3	600	c.288C>T	c.(286-288)aaC>aaT	p.N96N	PLEKHG1_ENST00000358517.2_Silent_p.N96N	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	96					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGGACTCAAACGGGGCACCCA	0.592													9	51					0	0	0	0	T	151055105	C	T	151055105	2	4	106	1	0	0	0	0	0	0	0	1	12140	535	19	1		1	PLEKHG1	6	151055105	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	4783602	151055105	20059962	133	20273											
AKAP12	9590	broad.mit.edu	37	chr6	151671537	151671537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagccggaagaaccaaagCgcaaggtggatacctcagta	16	4	11	10	2	1	1	1	0	0	1	1	3	1	3	3	3	4	2	3	3	7	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:151671537C>T	ENST00000402676.2	+	4	2251	c.2011C>T	c.(2011-2013)Cgc>Tgc	p.R671C	AKAP12_ENST00000359755.5_Missense_Mutation_p.R566C|AKAP12_ENST00000253332.1_Missense_Mutation_p.R671C|AKAP12_ENST00000354675.6_Missense_Mutation_p.R573C	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	671					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAACCAAAGCGCAAGGTGGA	0.507													7	57					0	0	0	0	T	151671537	C	T	151671537	3	4	106	1	0	0	0	0	1	0	0	0	448	768	27	1	2050	1	AKAP12	6	151671537	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	616432	151671537	19443530	134	20274											
C6orf118	168090	broad.mit.edu	37	chr6	165715112	165715112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcccagtgaagtcattCttcaggagatcttgcttggc	7	14	10	10	0	4	2	2	1	2	1	5	3	5	2	1	2	2	2	1	2	1	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:165715112C>A	ENST00000543069.1	-	2	968	c.387G>T	c.(385-387)aaG>aaT	p.K129N	C6orf118_ENST00000230301.8_Missense_Mutation_p.K233N			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	233										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TGAAGTCATTCTTCAGGAGAT	0.607													21	41					1.01871e-10	1.63445e-10	1	0	A	165715112	C	A	165715112	3	1	106	1	0	0	0	0	1	0	0	0	2344	912	32	2	742	2	C6orf118	6	165715112	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	14043575	165715112	5399955	135	20275											
RPS6KA2	6196	broad.mit.edu	37	chr6	166889289	166889289	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcagaagcctaggagccTggagcaactcacacgggggc	11	4	14	12	1	2	1	2	0	0	1	2	4	2	3	2	4	4	1	2	4	3	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:166889289T>C	ENST00000366863.2	-	11	1163	c.484A>G	c.(484-486)Agg>Ggg	p.R162G	RPS6KA2_ENST00000503859.1_Intron|RPS6KA2_ENST00000405189.3_Intron|RPS6KA2_ENST00000481261.2_Intron|RPS6KA2_ENST00000510118.1_Intron|RPS6KA2_ENST00000265678.4_Intron			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	0	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCTAGGAGCCTGGAGCAACTC	0.488													27	58					0	0	0	0	C	166889289	T	C	166889289	3	2	106	1	0	0	0	0	1	0	0	0	13736	1595	55	5		5	RPS6KA2	6	166889289	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	1174177	166889289	4225778	136	20276											
FAM120B	84498	broad.mit.edu	37	chr6	170628053	170628053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagactccatgtgtacacaCgctgaaatcaatcaaaaatt	17	9	6	9	1	2	2	2	1	0	1	3	3	3	2	1	0	1	2	1	0	6	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:170628053C>A	ENST00000476287.1	+	2	1683	c.1575C>A	c.(1573-1575)caC>caA	p.H525Q	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.H537Q|FAM120B_ENST00000537664.1_Missense_Mutation_p.H548Q	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	525					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGTGTACACACGCTGAAATCA	0.378													15	42					1.3612e-06	2.02015e-06	1	0	A	170628053	C	A	170628053	3	1	106	1	0	0	0	0	1	0	0	0	5458	535	19	3	1577	3	FAM120B	6	170628053	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	3738764	170628053	487014	137	20277											
GNA12	2768	broad.mit.edu	37	chr7	2834632	2834632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagagtgcgctcagggccGggacgtacagctggaaggtg	8	6	17	10	3	1	1	1	0	0	1	2	3	2	3	2	4	3	3	2	4	2	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:2834632G>A	ENST00000275364.3	-	2	617	c.455C>T	c.(454-456)cCg>cTg	p.P152L	GNA12_ENST00000544127.1_Missense_Mutation_p.P76L|GNA12_ENST00000407904.3_Missense_Mutation_p.P93L	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	152					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GCTCAGGGCCGGGACGTACAG	0.592													5	107					0	0	0	0	A	2834632	G	A	2834632	3	1	106	1	0	0	0	0	1	0	0	0	6551	1116	39	1	702	1	GNA12	7	2834632	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08		2834632	156304031	138	20278											
HERPUD2	64224	broad.mit.edu	37	chr7	35674850	35674850	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtgagaacgtgtacatcCagtctagccagtctcgattg	9	11	10	11	3	2	1	0	1	2	1	5	3	3	1	2	0	3	1	2	0	3	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:35674850C>T	ENST00000396081.1	-	6	1640	c.836G>A	c.(835-837)tGg>tAg	p.W279*	HERPUD2_ENST00000311350.3_Nonsense_Mutation_p.W279*|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	279					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CGTGTACATCCAGTCTAGCCA	0.433													65	39					0	0	0	0	T	35674850	C	T	35674850	4	4	106	1	0	0	0	0	0	1	0	0	7114	595	21	4	396	4	HERPUD2	7	35674850	Nonsense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	32840218	35674850	123463813	139	20279											
IGFBP1	3484	broad.mit.edu	37	chr7	45928415	45928415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcggaggtcacccggtccgCcggctgcggctgttgcccga	3	7	15	16	6	1	0	1	0	0	0	3	2	2	1	4	5	2	3	4	5	0	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:45928415C>A	ENST00000275525.3	+	1	460	c.164C>A	c.(163-165)gCc>gAc	p.A55D	IGFBP1_ENST00000468955.1_Missense_Mutation_p.A55D|IGFBP1_ENST00000457280.1_Missense_Mutation_p.A55D	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	55	IGFBP N-terminal.					extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						ACCCGGTCCGCCGGCTGCGGC	0.771													7	12					1.06961e-07	1.60935e-07	1	0	A	45928415	C	A	45928415	3	1	106	1	0	0	0	0	1	0	0	0	7631	739	26	4	166	4	IGFBP1	7	45928415	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	10253565	45928415	113210248	140	20280											
SEPT14	346288	broad.mit.edu	37	chr7	55914269	55914269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atctgctcaccaactgattgGgcaaacattcaaaaccaaaa	17	8	5	11	0	3	1	2	1	1	0	3	1	3	1	2	1	4	2	2	1	6	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:55914269G>T	ENST00000388975.3	-	3	232	c.116C>A	c.(115-117)cCc>cAc	p.P39H	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	39					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAACTGATTGGGCAAACATTC	0.303													50	102					1.35964e-18	2.41919e-18	1	0	T	55914269	G	T	55914269	3	4	106	1	0	0	0	0	1	0	0	0	14150	1232	43	4	1214	4	SEPT14	7	55914269	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	9985854	55914269	103224394	141	20281											
ZNF479	90827	broad.mit.edu	37	chr7	57188130	57188130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggaccagctaaaggctttgCcacattcctcacacctgcag	11	8	8	14	0	1	0	1	0	0	0	2	1	2	1	4	2	3	3	4	2	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:57188130C>T	ENST00000331162.4	-	5	1262	c.992G>A	c.(991-993)gGc>gAc	p.G331D		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AAAGGCTTTGCCACATTCCTC	0.443													8	21					0	0	0	0	T	57188130	C	T	57188130	3	4	106	1	0	0	0	0	1	0	0	0	18028	739	26	4	586	4	ZNF479	7	57188130	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1273861	57188130	101950533	142	20282											
CLIP2	7461	broad.mit.edu	37	chr7	73753270	73753270	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcaacgagtcgggatccaAcctctcagacagcggctctg	9	7	12	13	3	2	1	1	0	2	1	5	3	3	2	2	3	3	2	2	3	2	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:73753270A>G	ENST00000223398.6	+	3	941	c.614A>G	c.(613-615)aAc>aGc	p.N205S	CLIP2_ENST00000361545.5_Missense_Mutation_p.N205S|CLIP2_ENST00000395060.1_Missense_Mutation_p.N205S	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	205						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TCGGGATCCAACCTCTCAGAC	0.677													16	33					0	0	0	0	G	73753270	A	G	73753270	3	3	106	1	0	0	0	0	1	0	0	0	3563	43	2	5	620	5	CLIP2	7	73753270	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	16565140	73753270	85385393	143	20283											
ZP3	7784	broad.mit.edu	37	chr7	76058904	76058904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgggaaacctgtccatcGtgaggactaaccgcgcagag	10	6	13	12	4	0	2	0	1	0	1	2	4	1	4	4	2	2	1	4	2	2	1	rs144669807	by1000genomes	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:76058904G>A	ENST00000336517.4	+	3	578	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	ZP3_ENST00000416245.1_5'UTR|ZP3_ENST00000394857.3_Missense_Mutation_p.V129M	NM_007155.5	NP_009086.4	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	129	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CCTGTCCATCGTGAGGACTAA	0.597													14	58					0	0	0	0	A	76058904	G	A	76058904	3	1	106	1	0	0	0	0	1	0	0	0	18310	1145	40	1	391	1	ZP3	7	76058904	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	2305634	76058904	83079759	144	20284											
CACNA2D1	781	broad.mit.edu	37	chr7	81591325	81591325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggaggccgtgaagtcatCatcctccatctcaacttggg	9	9	11	12	1	3	1	3	1	1	0	6	2	5	2	3	3	1	0	3	3	2	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:81591325C>T	ENST00000356860.3	-	36	3189	c.2851G>A	c.(2851-2853)Gat>Aat	p.D951N	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D963N|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D163N	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	963						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTGAAGTCATCATCCTCCATC	0.483													56	544					0	0	0	0	T	81591325	C	T	81591325	3	4	106	1	0	0	0	0	1	0	0	0	2573	826	29	2	440	2	CACNA2D1	7	81591325	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	5532421	81591325	77547338	145	20285											
PCLO	27445	broad.mit.edu	37	chr7	82764156	82764156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagattcagactgaaacGccttgactgctcctgaggct	9	10	9	13	1	1	5	1	3	0	2	3	5	3	5	3	1	2	2	3	1	1	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:82764156G>A	ENST00000423517.2	-	3	3047	c.2710C>T	c.(2710-2712)Cgt>Tgt	p.R904C	PCLO_ENST00000333891.8_Missense_Mutation_p.R904C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	850	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGACTGAAACGCCTTGACTGC	0.542													26	241					0	0	0	0	A	82764156	G	A	82764156	3	1	106	1	0	0	0	0	1	0	0	0	11654	1087	38	1	12827	1	PCLO	7	82764156	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1172831	82764156	76374507	146	20286											
MCM7	4176	broad.mit.edu	37	chr7	99691888	99691888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctcgcctcatctccaCgtatgctgctgtgatgtagt	6	13	9	13	2	3	1	1	1	2	0	5	1	3	1	3	0	3	4	3	0	2	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:99691888C>T	ENST00000303887.5	-	13	2401	c.1756G>A	c.(1756-1758)Gtg>Atg	p.V586M	MCM7_ENST00000354230.3_Missense_Mutation_p.V410M|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	586	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CTCATCTCCACGTATGCTGCT	0.577													11	60					0	0	0	0	T	99691888	C	T	99691888	3	4	106	1	0	0	0	0	1	0	0	0	9461	536	19	1	415	1	MCM7	7	99691888	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	16927732	99691888	59446775	147	20287											
AP4M1	9179	broad.mit.edu	37	chr7	99702922	99702922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagctctgtgaatctggacGaatttgagtctcatcgaatc	11	12	9	9	2	3	2	1	2	3	0	6	5	3	3	0	1	1	1	0	1	3	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:99702922G>A	ENST00000429084.1	+	10	966	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	AP4M1_ENST00000422582.1_Missense_Mutation_p.E135K|AP4M1_ENST00000421755.1_Missense_Mutation_p.E263K|AP4M1_ENST00000359593.4_Missense_Mutation_p.E263K			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	263	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCTGGACGAATTTGAGTC	0.542													22	113					0	0	0	0	A	99702922	G	A	99702922	3	1	106	1	0	0	0	0	1	0	0	0	754	1059	37	1	825	1	AP4M1	7	99702922	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	11034	99702922	59435741	148	20288											
MUC17	140453	broad.mit.edu	37	chr7	100682580	100682580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgccaatctcaactcCtagtgaagtaagtacttcat	13	11	6	11	0	2	1	2	1	1	0	4	1	3	1	2	0	4	3	2	0	6	4	rs146245479	by1000genomes	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:100682580C>T	ENST00000306151.4	+	3	7947	c.7883C>T	c.(7882-7884)cCt>cTt	p.P2628L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2628	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATCTCAACTCCTAGTGAAGTA	0.458													255	106					0	0	0	0	T	100682580	C	T	100682580	3	4	106	1	0	0	0	0	1	0	0	0	10044	681	24	4	7893	4	MUC17	7	100682580	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	979658	100682580	58456083	149	20289											
ARMC10	83787	broad.mit.edu	37	chr7	102738868	102738868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggccatttagctgtgcaGcctactttcactgaaggttc	9	12	10	10	0	1	1	1	1	0	0	2	2	1	1	2	2	4	3	2	2	4	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:102738868G>T	ENST00000323716.3	+	7	1292	c.900G>T	c.(898-900)caG>caT	p.Q300H	ARMC10_ENST00000428183.2_Missense_Mutation_p.Q241H|ARMC10_ENST00000541300.1_Missense_Mutation_p.Q182H|ARMC10_ENST00000441711.2_Missense_Mutation_p.Q265H|ARMC10_ENST00000454559.1_Missense_Mutation_p.Q206H|ARMC10_ENST00000425331.1_Missense_Mutation_p.Q241H	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	300					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						TAGCTGTGCAGCCTACTTTCA	0.403													16	63					1.74807e-11	2.84661e-11	1	0	T	102738868	G	T	102738868	3	4	106	1	0	0	0	0	1	0	0	0	954	962	34	4	926	4	ARMC10	7	102738868	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	2056288	102738868	56399795	150	20290											
FOXP2	93986	broad.mit.edu	37	chr7	114284743	114284743	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcttttgctacagctcGtcacatgaggagactggggc	7	12	13	9	1	2	2	1	1	1	1	3	3	2	2	0	3	3	3	0	3	1	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:114284743G>C	ENST00000393500.3	+	14	1588	c.768G>C	c.(766-768)tcG>tcC	p.S256S	FOXP2_ENST00000393491.3_Silent_p.S239S|FOXP2_ENST00000393494.2_Silent_p.S331S|FOXP2_ENST00000390668.3_Silent_p.S355S|FOXP2_ENST00000360232.4_Silent_p.S331S|FOXP2_ENST00000393489.3_Silent_p.S239S|FOXP2_ENST00000408937.3_Silent_p.S356S|FOXP2_ENST00000350908.4_Silent_p.S331S|FOXP2_ENST00000403559.4_Silent_p.S348S|FOXP2_ENST00000378237.3_Silent_p.S331S|FOXP2_ENST00000393498.2_Silent_p.S310S			O15409	FOXP2_HUMAN	forkhead box P2	331	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.S356S(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GCTACAGCTCGTCACATGAGG	0.468													5	37					0	0	0	0	C	114284743	G	C	114284743	2	2	106	1	0	0	0	0	0	0	0	1	6074	1132	40	3		3	FOXP2	7	114284743	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	11545875	114284743	44853920	151	20291											
POT1	25913	broad.mit.edu	37	chr7	124475372	124475372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtataagaaatggtgctGaaaggtccaaaagttccagg	14	10	11	6	0	0	2	0	1	0	1	2	2	2	2	2	3	1	3	2	3	6	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:124475372G>A	ENST00000357628.3	-	15	2064	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L	POT1_ENST00000393329.1_Missense_Mutation_p.S358L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	489					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AAATGGTGCTGAAAGGTCCAA	0.358													13	71					0	0	0	0	A	124475372	G	A	124475372	3	1	106	1	0	0	0	0	1	0	0	0	12332	1294	45	2	458	2	POT1	7	124475372	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	10190629	124475372	34663291	152	20292											
OR2A2	442361	broad.mit.edu	37	chr7	143807030	143807030	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattttggtggtgatgtccTatgataggtatgtggccatc	7	16	13	5	0	0	3	0	3	0	0	2	3	1	3	2	4	0	1	2	4	3	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:143807030T>A	ENST00000408979.2	+	1	424	c.355T>A	c.(355-357)Tat>Aat	p.Y119N		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GGTGATGTCCTATGATAGGTA	0.463													96	41					0	0	0	0	A	143807030	T	A	143807030	3	1	106	1	0	0	0	0	1	0	0	0	11048	1522	53	5	357	5	OR2A2	7	143807030	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	19331658	143807030	15331633	153	20293											
HTR5A	3361	broad.mit.edu	37	chr7	154862941	154862941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgctggcagctaggtcGgaggctgtgccagctttgga	5	8	17	11	3	0	0	0	0	0	0	1	2	0	2	2	5	3	5	2	5	1	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:154862941G>T	ENST00000287907.2	+	1	908	c.332G>T	c.(331-333)cGg>cTg	p.R111L	AC093726.4_ENST00000543018.1_Silent_p.R25R|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_Silent_p.R25R	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	111						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CAGCTAGGTCGGAGGCTGTGC	0.667													12	30					1.5842e-08	2.41702e-08	1	0	T	154862941	G	T	154862941	3	4	106	1	0	0	0	0	1	0	0	0	7503	1116	39	3	334	3	HTR5A	7	154862941	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	11055911	154862941	4275722	154	20294											
PIWIL2	55124	broad.mit.edu	37	chr8	22167481	22167481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attttctgtttagattgaagGacgtgttctgccaatggaaa	11	15	10	5	1	2	2	0	1	2	1	2	4	2	4	1	2	1	2	1	2	4	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:22167481G>T	ENST00000356766.6	+	15	1842	c.1694G>T	c.(1693-1695)gGa>gTa	p.G565V	PIWIL2_ENST00000521356.1_Missense_Mutation_p.G565V|PIWIL2_ENST00000454009.2_Missense_Mutation_p.G565V	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	565					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TAGATTGAAGGACGTGTTCTG	0.388													28	23					2.12542e-12	3.49596e-12	1	0	T	22167481	G	T	22167481	3	4	106	1	0	0	0	0	1	0	0	0	12030	1174	41	2	1748	2	PIWIL2	8	22167481	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08		22167481	124196541	155	20295											
PURG	29942	broad.mit.edu	37	chr8	30889770	30889770	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atatttcctattgtccctctCgatatagtctgttttcagga	8	18	6	9	1	3	0	1	0	2	0	6	2	5	1	2	1	0	1	2	1	4	8			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:30889770C>G	ENST00000475541.1	-	1	1461	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	PURG_ENST00000339382.2_Missense_Mutation_p.E177Q	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	177						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TTGTCCCTCTCGATATAGTCT	0.532													14	58					0	0	0	0	G	30889770	C	G	30889770	3	3	106	1	0	0	0	0	1	0	0	0	12911	893	31	3	627	3	PURG	8	30889770	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	8722289	30889770	115474252	156	20296			1	27		3	3	272	C		5.215121e-06
PURG	29942	broad.mit.edu	37	chr8	30889786	30889786	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcgatatagtctgttttCaggacactgtgaggatgctc	8	14	10	9	1	3	1	1	1	2	0	5	4	3	3	0	2	1	2	0	2	2	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:30889786C>G	ENST00000475541.1	-	1	1445	c.513G>C	c.(511-513)ctG>ctC	p.L171L	PURG_ENST00000339382.2_Silent_p.L171L	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	171						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AGTCTGTTTTCAGGACACTGT	0.527													15	74					0	0	0	0	G	30889786	C	G	30889786	2	3	106	1	0	0	0	0	0	0	0	1	12911	813	29	2		2	PURG	8	30889786	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	16	30889786	115474236	157	20297			1	27		3	3	272	C		5.215121e-06
PURG	29942	broad.mit.edu	37	chr8	30890041	30890041	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctatccagacttcggctatCtttaggaagcggccccggga	8	9	11	13	3	1	1	0	0	1	1	3	3	2	3	4	4	1	1	4	4	4	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:30890041C>G	ENST00000475541.1	-	1	1190	c.258G>C	c.(256-258)aaG>aaC	p.K86N	PURG_ENST00000339382.2_Missense_Mutation_p.K86N	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	86						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CTTCGGCTATCTTTAGGAAGC	0.552													7	26					0	0	0	0	G	30890041	C	G	30890041	3	3	106	1	0	0	0	0	1	0	0	0	12911	912	32	2	898	2	PURG	8	30890041	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	255	30890041	115473981	158	20298			1	27		3	3	272	C		5.215121e-06
LETM2	137994	broad.mit.edu	37	chr8	38250136	38250136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcacttgccagattccCatttaaataagacatgtatg	12	15	5	9	0	2	2	1	0	1	2	3	2	3	2	2	0	1	1	2	0	4	8			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:38250136C>T	ENST00000519476.2	+	3	424	c.124C>T	c.(124-126)Cat>Tat	p.H42Y	LETM2_ENST00000379957.4_Missense_Mutation_p.H42Y|LETM2_ENST00000524874.1_Missense_Mutation_p.H42Y|LETM2_ENST00000523983.2_5'UTR|LETM2_ENST00000297720.5_5'UTR			Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	42						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GCCAGATTCCCATTTAAATAA	0.413													46	270					0	0	0	0	T	38250136	C	T	38250136	3	4	106	1	0	0	0	0	1	0	0	0	8788	609	21	4		4	LETM2	8	38250136	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	7360095	38250136	108113886	159	20299											
IKBKB	3551	broad.mit.edu	37	chr8	42171930	42171930	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttcaagctctttaccctaCcccaataatcttaacaggta	12	14	3	12	0	3	0	1	0	2	0	3	0	3	0	3	1	4	2	3	1	7	8	rs150493359		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:42171930C>T	ENST00000520810.1	+	9	969	c.783C>T	c.(781-783)taC>taT	p.Y261Y	IKBKB_ENST00000416505.2_Silent_p.Y202Y|IKBKB_ENST00000379708.3_Silent_p.Y38Y|IKBKB_ENST00000520835.1_Silent_p.Y259Y|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	261	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTTTACCCTACCCCAATAATC	0.433													42	90					0	0	0	0	T	42171930	C	T	42171930	2	4	106	1	0	0	0	0	0	0	0	1	7664	518	18	4		4	IKBKB	8	42171930	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	3921794	42171930	104192092	160	20300											
ST18	9705	broad.mit.edu	37	chr8	53084518	53084518	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgctccagcaaacttaaattCcccttggccttttccaggtc	8	13	6	14	0	0	0	0	0	0	0	4	0	3	0	5	2	3	2	5	2	3	5	rs149814559		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:53084518C>T	ENST00000276480.7	-	10	1586	c.903G>A	c.(901-903)ggG>ggA	p.G301G		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	301						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AACTTAAATTCCCCTTGGCCT	0.527													22	40					0	0	0	0	T	53084518	C	T	53084518	2	4	106	1	0	0	0	0	0	0	0	1	15302	842	30	2		2	ST18	8	53084518	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	10912588	53084518	93279504	161	20301											
CHD7	55636	broad.mit.edu	37	chr8	61769309	61769309	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccaagcaggcctttcGcgcacacccacaaggcatct	9	7	8	17	2	1	0	0	0	1	0	3	0	2	0	3	2	2	4	3	2	2	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:61769309G>A	ENST00000423902.2	+	34	7949	c.7470G>A	c.(7468-7470)tcG>tcA	p.S2490S	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2490					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGCCTTTCGCGCACACCCA	0.483													31	165					0	0	0	0	A	61769309	G	A	61769309	2	1	106	1	0	0	0	0	0	0	0	1	3359	1074	38	1		1	CHD7	8	61769309	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	8684791	61769309	84594713	162	20302											
NBN	4683	broad.mit.edu	37	chr8	90960066	90960066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcacagatatttctttagCtgaccatagtgagtcttcct	9	16	6	10	0	3	3	1	2	3	1	5	3	4	3	2	0	1	1	2	0	3	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:90960066C>G	ENST00000265433.3	-	12	2054	c.1900G>C	c.(1900-1902)Gct>Cct	p.A634P	NBN_ENST00000409330.1_Missense_Mutation_p.A552P	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	634					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATTTCTTTAGCTGACCATAGT	0.303								Homologous recombination					2	6					0	0	0	0	G	90960066	C	G	90960066	3	3	106	1	0	0	0	0	1	0	0	0	10261	797	28	4	384	4	NBN	8	90960066	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	29190757	90960066	55403956	163	20303											
KCNS2	3788	broad.mit.edu	37	chr8	99440930	99440930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgcctggttcacatttgaGctggtggccaggtttgctgt	5	15	13	8	0	1	1	1	1	0	0	1	1	1	1	2	4	3	4	2	4	0	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:99440930G>T	ENST00000287042.4	+	2	1073	c.723G>T	c.(721-723)gaG>gaT	p.E241D	KCNS2_ENST00000521839.1_Missense_Mutation_p.E241D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	241						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCACATTTGAGCTGGTGGCCA	0.532													49	66					2.64894e-19	4.79158e-19	1	0	T	99440930	G	T	99440930	3	4	106	1	0	0	0	0	1	0	0	0	8142	962	34	4	725	4	KCNS2	8	99440930	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	8480864	99440930	46923092	164	20304											
CSMD3	114788	broad.mit.edu	37	chr8	114111143	114111143	+	Silent	SNP	G	G	T																															tcattaggaaaactagggctGgatatgatgccactggatcc																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:114111143G>T	ENST00000297405.5	-	5	1003	c.759C>A	c.(757-759)tcC>tcA	p.S253S	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Silent_p.S253S|CSMD3_ENST00000352409.3_Silent_p.S253S|CSMD3_ENST00000343508.3_Silent_p.S213S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	253	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTAGGGCTGGATATGATGC	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	34					0.00307968	0.00433412	1	0	T	114111143	G	T	114111143	2	4	106	1	0	0	0	0	0	0	0	1	3978	1335	47	4		4	CSMD3	8	114111143	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	14670213	114111143	32252879	165	20305	169	2									
CSMD3	114788	broad.mit.edu	37	chr8	114111144	114111144	+	Missense_Mutation	SNP	G	G	T																															cattaggaaaactagggctgGatatgatgccactggatcct																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:114111144G>T	ENST00000297405.5	-	5	1002	c.758C>A	c.(757-759)tCc>tAc	p.S253Y	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Missense_Mutation_p.S253Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.S253Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.S213Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	253	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTAGGGCTGGATATGATGCC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	35					0.00307968	0.00433412	1	0	T	114111144	G	T	114111144	3	4	106	1	0	0	0	0	1	0	0	0	3978	1174	41	2	10633	2	CSMD3	8	114111144	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1	114111144	32252878	166	20306	169	2									
SNTB1	6641	broad.mit.edu	37	chr8	121587411	121587411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatagattaaaaggtcttTctcagtcagcacaaccaggg	13	10	9	9	0	4	1	3	0	2	1	5	1	4	1	1	2	2	1	1	2	4	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:121587411T>C	ENST00000395601.3	-	5	1465	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	SNTB1_ENST00000517992.1_Missense_Mutation_p.K351E|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	351	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AAAAGGTCTTTCTCAGTCAGC	0.512													55	99					0	0	0	0	C	121587411	T	C	121587411	3	2	106	1	0	0	0	0	1	0	0	0	14960	1792	62	5	581	5	SNTB1	8	121587411	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	7476267	121587411	24776611	167	20307											
WISP1	8840	broad.mit.edu	37	chr8	134225121	134225121	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcaggccctctctccagcCcctacgaccatggactttac	7	8	7	19	2	1	0	0	0	1	0	3	2	2	1	6	2	3	1	6	2	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:134225121C>A	ENST00000250160.6	+	2	190	c.84C>A	c.(82-84)gcC>gcA	p.A28A	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Silent_p.A28A|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Silent_p.A28A	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	28					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TCTCTCCAGCCCCTACGACCA	0.647													7	9					8.12818e-05	0.000117168	1	0	A	134225121	C	A	134225121	2	1	106	1	0	0	0	0	0	0	0	1	17468	610	22	4		4	WISP1	8	134225121	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	12637710	134225121	12138901	168	20308											
FAM135B	51059	broad.mit.edu	37	chr8	139151264	139151264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttggtagaggaaacatttgCgcaaatcagcattatccctg	12	11	10	8	1	1	1	1	0	0	1	2	2	2	2	1	2	3	4	1	2	4	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:139151264C>T	ENST00000395297.1	-	18	4036	c.3866G>A	c.(3865-3867)cGc>cAc	p.R1289H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1289										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAACATTTGCGCAAATCAGC	0.438										HNSCC(54;0.14)			18	56					0	0	0	0	T	139151264	C	T	139151264	3	4	106	1	0	0	0	0	1	0	0	0	5490	768	27	1	366	1	FAM135B	8	139151264	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	4926143	139151264	7212758	169	20309											
COL22A1	169044	broad.mit.edu	37	chr8	139691866	139691866	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcttcactgaccttaacAcattgccctcccagtgcaca	11	10	5	15	0	2	2	1	1	1	1	3	2	3	2	3	0	3	1	3	0	1	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:139691866A>T	ENST00000303045.6	-	40	3512	c.3066T>A	c.(3064-3066)tgT>tgA	p.C1022*	COL22A1_ENST00000435777.1_Intron|COL22A1_ENST00000341807.4_Intron	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1022	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGACCTTAACACATTGCCCTC	0.408										HNSCC(7;0.00092)			24	51					0	0	0	0	T	139691866	A	T	139691866	4	4	106	1	0	0	0	0	0	1	0	0	3711	157	6	5	1918	5	COL22A1	8	139691866	Nonsense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	540602	139691866	6672156	170	20310											
CYP11B1	1584	broad.mit.edu	37	chr8	143961004	143961004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttacctgaaaatgggccCtagttcctggaaggtctggt	8	12	12	9	0	1	1	0	1	1	0	2	2	2	2	3	4	1	2	3	4	5	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:143961004C>G	ENST00000292427.4	-	1	258	c.226G>C	c.(226-228)Ggg>Cgg	p.G76R	CYP11B1_ENST00000517471.1_Missense_Mutation_p.G76R|CYP11B1_ENST00000377675.3_Missense_Mutation_p.G76R	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	76					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AAAATGGGCCCTAGTTCCTGG	0.632									Familial Hyperaldosteronism type I				31	69					0	0	0	0	G	143961004	C	G	143961004	3	3	106	1	0	0	0	0	1	0	0	0	4177	681	24	4	1321	4	CYP11B1	8	143961004	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	4269138	143961004	2403018	171	20311											
TOP1MT	116447	broad.mit.edu	37	chr8	144403486	144403486	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggacgtgctccacgCggagggaacagcagcccacg	9	3	15	14	4	0	0	0	0	0	0	1	3	1	3	2	3	5	4	2	3	1	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:144403486C>A	ENST00000523676.1	-	9	1142	c.737G>T	c.(736-738)cGc>cTc	p.R246L	TOP1MT_ENST00000519148.1_Missense_Mutation_p.R246L|TOP1MT_ENST00000329245.4_Missense_Mutation_p.R344L|TOP1MT_ENST00000521193.1_Missense_Mutation_p.R246L			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	344					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GTGCTCCACGCGGAGGGAACA	0.607													29	33					3.99451e-17	6.95577e-17	1	0	A	144403486	C	A	144403486	3	1	106	1	0	0	0	0	1	0	0	0	16459	768	27	3	802	3	TOP1MT	8	144403486	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	442482	144403486	1960536	172	20312											
PLEC	5339	broad.mit.edu	37	chr8	144992693	144992693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtagccggtgaccgcccGctcagccgagagcaggcggt	7	4	16	14	6	1	2	1	1	0	1	1	3	1	2	4	4	3	3	4	4	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:144992693G>A	ENST00000322810.4	-	32	11876	c.11707C>T	c.(11707-11709)Cgg>Tgg	p.R3903W	PLEC_ENST00000398774.2_Missense_Mutation_p.R3734W|PLEC_ENST00000357649.2_Missense_Mutation_p.R3770W|PLEC_ENST00000527096.1_Missense_Mutation_p.R3789W|PLEC_ENST00000436759.2_Missense_Mutation_p.R3793W|PLEC_ENST00000354958.2_Missense_Mutation_p.R3744W|PLEC_ENST00000356346.3_Missense_Mutation_p.R3752W|PLEC_ENST00000345136.3_Missense_Mutation_p.R3766W|PLEC_ENST00000354589.3_Missense_Mutation_p.R3766W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3903	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGACCGCCCGCTCAGCCGAG	0.677													7	18					0	0	0	0	A	144992693	G	A	144992693	3	1	106	1	0	0	0	0	1	0	0	0	12124	1086	38	1	2351	1	PLEC	8	144992693	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	589207	144992693	1371329	173	20313											
PLEC	5339	broad.mit.edu	37	chr8	144996154	144996154	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgaggcagtgacctcctctGagtgcgccagcgcggcccgg	5	5	16	15	5	1	2	0	2	1	0	2	3	2	2	4	3	2	1	4	3	0	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:144996154G>C	ENST00000322810.4	-	32	8415	c.8246C>G	c.(8245-8247)tCa>tGa	p.S2749*	PLEC_ENST00000398774.2_Nonsense_Mutation_p.S2580*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.S2616*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.S2635*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.S2639*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.S2590*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.S2598*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.S2612*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.S2612*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2749	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACCTCCTCTGAGTGCGCCAG	0.692													3	34					0	0	0	0	C	144996154	G	C	144996154	4	2	106	1	0	0	0	0	0	1	0	0	12124	1294	45	2	5812	2	PLEC	8	144996154	Nonsense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	3461	144996154	1367868	174	20314											
CPSF1	29894	broad.mit.edu	37	chr8	145626157	145626157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgatgatgttgagcagcttCtcgtctagggcccgcacgtc	6	11	12	12	4	2	2	0	2	2	0	5	3	2	2	1	1	2	4	1	1	1	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:145626157C>T	ENST00000349769.3	-	7	688	c.594G>A	c.(592-594)gaG>gaA	p.E198E		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	198					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGAGCAGCTTCTCGTCTAGGG	0.637													9	44					0	0	0	0	T	145626157	C	T	145626157	2	4	106	1	0	0	0	0	0	0	0	1	3854	912	32	2		2	CPSF1	8	145626157	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	630003	145626157	737865	175	20315											
SMARCA2	6595	broad.mit.edu	37	chr9	2123782	2123782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacggaagccccgtttaatgGaggaggatgagctgccctcc	10	7	13	11	2	0	1	0	1	0	0	1	5	1	5	4	4	4	2	4	4	3	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:2123782G>A	ENST00000382203.1	+	27	4035	c.3826G>A	c.(3826-3828)Gag>Aag	p.E1276K	SMARCA2_ENST00000349721.2_Missense_Mutation_p.E1276K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E1276K|SMARCA2_ENST00000382194.1_Missense_Mutation_p.E1276K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1276					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCGTTTAATGGAGGAGGATGA	0.547													7	36					0	0	0	0	A	2123782	G	A	2123782	3	1	106	1	0	0	0	0	1	0	0	0	14857	1175	41	2	3928	2	SMARCA2	9	2123782	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08		2123782	139089649	176	20316											
TMEM215	401498	broad.mit.edu	37	chr9	32784253	32784253	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtcttcctcgtctttggTttcatgttcaccgtctctgg	3	18	9	11	2	5	0	2	0	3	0	8	0	6	0	2	2	0	2	2	2	0	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:32784253T>A	ENST00000342743.5	+	2	437	c.72T>A	c.(70-72)ggT>ggA	p.G24G		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	24						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TCGTCTTTGGTTTCATGTTCA	0.582													25	16					0	0	0	0	A	32784253	T	A	32784253	2	1	106	1	0	0	0	0	0	0	0	1	16232	1712	60	5		5	TMEM215	9	32784253	Silent	SNP	T	TCGA-CN-6992-01A-11D-1912-08	30660471	32784253	108429178	177	20317											
ZBTB5	9925	broad.mit.edu	37	chr9	37441584	37441584	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccactctcatgtgctccTtctcaccaaggccaacctca	9	9	4	19	0	3	0	3	0	2	0	6	0	4	0	6	1	2	1	6	1	2	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:37441584T>C	ENST00000307750.4	-	2	1153	c.965A>G	c.(964-966)aAg>aGg	p.K322R		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CATGTGCTCCTTCTCACCAAG	0.512													3	88					0	0	0	0	C	37441584	T	C	37441584	3	2	106	1	0	0	0	0	1	0	0	0	17646	1609	56	5	1072	5	ZBTB5	9	37441584	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	4657331	37441584	103771847	178	20318											
FAM189A2	9413	broad.mit.edu	37	chr9	72006633	72006633	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cacaccttcacaccagcgggGaggccccgagccgagaggag	10	2	14	15	3	1	1	1	0	0	1	1	5	1	3	5	4	2	0	5	4	0	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:72006633G>C	ENST00000257515.8	+	11	1686	c.1266G>C	c.(1264-1266)ggG>ggC	p.G422G	FAM189A2_ENST00000455972.1_Silent_p.G422G|FAM189A2_ENST00000377216.3_Silent_p.G209G|FAM189A2_ENST00000303068.7_Silent_p.G257G	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	422						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CACCAGCGGGGAGGCCCCGAG	0.672													3	25					0	0	0	0	C	72006633	G	C	72006633	2	2	106	1	0	0	0	0	0	0	0	1	5559	1161	41	2		2	FAM189A2	9	72006633	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	34565049	72006633	69206798	179	20319											
DAPK1	1612	broad.mit.edu	37	chr9	90264868	90264868	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccctgcactgtgctgcttgGcacggctattactctgtggc	4	12	11	14	1	1	0	0	0	1	0	1	0	1	0	2	3	4	5	2	3	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:90264868G>A	ENST00000469640.2	+	16	1836	c.1461G>A	c.(1459-1461)tgG>tgA	p.W487*	DAPK1_ENST00000358077.5_Nonsense_Mutation_p.W487*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.W487*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.W487*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.W487*			P53355	DAPK1_HUMAN	death-associated protein kinase 1	487					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GTGCTGCTTGGCACGGCTATT	0.522									Chronic Lymphocytic Leukemia, Familial Clustering of				18	42					0	0	0	0	A	90264868	G	A	90264868	4	1	106	1	0	0	0	0	0	1	0	0	4268	1212	42	4	1519	4	DAPK1	9	90264868	Nonsense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	18258235	90264868	50948563	180	20320											
PAPPA	5069	broad.mit.edu	37	chr9	118974201	118974201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccttacaacaacttcatGagctatgcaggtagggccct	11	10	8	12	0	1	1	1	1	0	0	2	1	2	1	2	2	5	3	2	2	5	4	rs144109251		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:118974201G>T	ENST00000328252.3	+	4	2277	c.1908G>T	c.(1906-1908)atG>atT	p.M636I	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	636					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACAACTTCATGAGCTATGCAG	0.512													75	115					5.44642e-36	1.05535e-35	1	0	T	118974201	G	T	118974201	3	4	106	1	0	0	0	0	1	0	0	0	11503	1290	45	2	1922	2	PAPPA	9	118974201	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	28709333	118974201	22239230	181	20321											
OR1L6	392390	broad.mit.edu	37	chr9	125512877	125512877	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacctcactgcagtagccCttttctatgggagtattatt	8	14	7	12	0	2	0	1	0	1	0	2	1	2	1	3	1	2	3	3	1	4	7			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:125512877C>G	ENST00000373684.1	+	1	859	c.859C>G	c.(859-861)Ctt>Gtt	p.L287V	OR1L6_ENST00000304720.2_Missense_Mutation_p.L251V			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TGCAGTAGCCCTTTTCTATGG	0.517													20	57					0	0	0	0	G	125512877	C	G	125512877	3	3	106	1	0	0	0	0	1	0	0	0	11037	681	24	4	753	4	OR1L6	9	125512877	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	6538676	125512877	15700554	182	20322											
LAMC3	10319	broad.mit.edu	37	chr9	133901891	133901891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctctgagttcagcgacatctCcccgctgagtggcggcaacg	7	8	12	14	4	3	2	1	2	2	0	4	3	3	2	2	2	2	3	2	2	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:133901891C>T	ENST00000361069.4	+	2	726	c.593C>T	c.(592-594)tCc>tTc	p.S198F	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	198	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGCGACATCTCCCCGCTGAGT	0.701													9	22					0	0	0	0	T	133901891	C	T	133901891	3	4	106	1	0	0	0	0	1	0	0	0	8669	855	30	2	599	2	LAMC3	9	133901891	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	8389014	133901891	7311540	183	20323											
EHMT1	79813	broad.mit.edu	37	chr9	140728957	140728957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcagcacccgcctgatcGaggccggcgagcagctcggg	6	6	14	15	5	2	1	1	1	1	0	4	3	2	1	3	3	3	3	3	3	0	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:140728957G>A	ENST00000460843.1	+	26	3724	c.3697G>A	c.(3697-3699)Gag>Aag	p.E1233K		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1233	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCGCCTGATCGAGGCCGGCGA	0.697													6	32					0	0	0	0	A	140728957	G	A	140728957	3	1	106	1	0	0	0	0	1	0	0	0	5019	1059	37	1	3848	1	EHMT1	9	140728957	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	6827066	140728957	484474	184	20324											
PRKCQ	5588	broad.mit.edu	37	chr10	6521108	6521108	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaaaaattgattggttttcTtgaattctgccaggaagacc	12	13	9	7	1	2	3	0	2	2	1	2	5	2	4	2	2	1	1	2	2	4	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:6521108T>A	ENST00000263125.5	-	12	1298	c.1199A>T	c.(1198-1200)aAg>aTg	p.K400M	PRKCQ_ENST00000397176.2_Missense_Mutation_p.K400M|PRKCQ_ENST00000539722.1_Missense_Mutation_p.K275M	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	400	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ATTGGTTTTCTTGAATTCTGC	0.388													18	34					0	0	0	0	A	6521108	T	A	6521108	3	1	106	1	0	0	0	0	1	0	0	0	12595	1609	56	5	949	5	PRKCQ	10	6521108	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08		6521108	129013639	185	20325											
SFMBT2	57713	broad.mit.edu	37	chr10	7239525	7239525	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttacctctttaagaaccagCacgcatttgcccggtcccac	9	11	6	15	2	1	1	0	0	1	1	2	1	2	1	4	1	4	2	4	1	3	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:7239525C>G	ENST00000361972.4	-	15	1773	c.1683G>C	c.(1681-1683)gtG>gtC	p.V561V	SFMBT2_ENST00000397167.1_Silent_p.V561V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	561					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TAAGAACCAGCACGCATTTGC	0.483													31	58					0	0	0	0	G	7239525	C	G	7239525	2	3	106	1	0	0	0	0	0	0	0	1	14245	697	25	4		4	SFMBT2	10	7239525	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	718417	7239525	128295222	186	20326											
GATA3	2625	broad.mit.edu	37	chr10	8100668	8100668	+	Frame_Shift_Del	DEL	G	G	-																															ctgggtggagcctcctcgtcGacccaccaccccatcaccac																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:8100668delG	ENST00000379328.3	+	3	1210	c.642delG	c.(640-642)tcfs	p.S214fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Frame_Shift_Del_p.S214fs	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	214					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCTCCTCGTCGACCCACCACC	0.682			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						23	49	---	---	---	---					-	8100668	G	-	8100668	7	5	106	1	0	1	0	1	0	0	0	0	6304	1045	37	0	648	0	GATA3	10	8100668	Frame_Shift_Del	DEL	G	TCGA-CN-6992-01A-11D-1912-08	861143	8100668	127434079	187	20327											
MCM10	55388	broad.mit.edu	37	chr10	13222601	13222601	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttacgccacagagtgtGaatagtgtaagccattgtat	13	11	11	6	1	0	2	0	1	0	1	0	2	0	2	2	1	2	3	2	1	6	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:13222601G>T	ENST00000378694.1	+	6	999	c.924G>T	c.(922-924)gtG>gtT	p.V308V	MCM10_ENST00000378714.3_Silent_p.V308V|MCM10_ENST00000484800.2_Silent_p.V309V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	309					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CACAGAGTGTGAATAGTGTAA	0.408													35	77					8.73648e-17	1.5013e-16	1	0	T	13222601	G	T	13222601	2	4	106	1	0	0	0	0	0	0	0	1	9454	1277	45	2		2	MCM10	10	13222601	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	5121933	13222601	122312146	188	20328											
TRDMT1	1787	broad.mit.edu	37	chr10	17199734	17199734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttattttctacatccattGcatatttttgtggatgtaca	9	21	5	6	0	1	0	0	0	1	0	2	1	2	1	1	1	3	2	1	1	4	10			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:17199734G>T	ENST00000377799.3	-	8	640	c.593C>A	c.(592-594)gCa>gAa	p.A198E	TRDMT1_ENST00000457442.2_Missense_Mutation_p.A117E|TRDMT1_ENST00000412821.3_Missense_Mutation_p.A174E|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.A152E|TRDMT1_ENST00000488990.1_Missense_Mutation_p.A75E	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	198					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						TACATCCATTGCATATTTTTG	0.318													14	18					4.3838e-07	6.53567e-07	1	0	T	17199734	G	T	17199734	3	4	106	1	0	0	0	0	1	0	0	0	16562	1319	46	4	598	4	TRDMT1	10	17199734	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	3977133	17199734	118335013	189	20329											
CACNB2	783	broad.mit.edu	37	chr10	18807304	18807304	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatgtggtaccttccatgCgaccagtggtcctagtgggc	7	11	13	10	1	0	1	0	1	0	0	2	2	2	1	4	3	2	1	4	3	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:18807304C>A	ENST00000396576.2	+	7	1180	c.679C>A	c.(679-681)Cga>Aga	p.R227R	CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377315.4_Silent_p.R234R|CACNB2_ENST00000377319.3_Silent_p.R189R|CACNB2_ENST00000282343.8_Silent_p.R254R|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377329.4_Silent_p.R228R|CACNB2_ENST00000324631.7_Silent_p.R282R|CACNB2_ENST00000352115.6_Silent_p.R258R|CACNB2_ENST00000377331.2_Silent_p.R230R	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	282					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACCTTCCATGCGACCAGTGGT	0.502													44	91					3.76525e-18	6.64515e-18	1	0	A	18807304	C	A	18807304	2	1	106	1	0	0	0	0	0	0	0	1	2578	760	27	3		3	CACNB2	10	18807304	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1607570	18807304	116727443	190	20330											
ANKRD30A	91074	broad.mit.edu	37	chr10	37430667	37430667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacatctgcaggaacacCtgatgaggctgcacccttgg	11	7	12	11	0	1	2	0	2	1	0	1	4	1	4	2	4	4	3	2	4	2	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:37430667C>A	ENST00000374660.1	+	7	773	c.674C>A	c.(673-675)cCt>cAt	p.P225H	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P225H|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P225H			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	281						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCAGGAACACCTGATGAGGCT	0.468													10	29					9.70103e-10	1.52278e-09	1	0	A	37430667	C	A	37430667	3	1	106	1	0	0	0	0	1	0	0	0	658	681	24	4	700	4	ANKRD30A	10	37430667	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	18623363	37430667	98104080	191	20331											
OR13A1	79290	broad.mit.edu	37	chr10	45799384	45799384	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcagccacacggctgtggCcagcccgctgcagaacacct	9	4	12	16	2	0	1	0	0	0	1	0	2	0	1	4	2	5	4	4	2	1	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:45799384C>A	ENST00000553795.1	-	4	795	c.487G>T	c.(487-489)Gcc>Tcc	p.A163S	OR13A1_ENST00000374401.2_Missense_Mutation_p.A163S|OR13A1_ENST00000536058.1_Missense_Mutation_p.A163S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						ACGGCTGTGGCCAGCCCGCTG	0.597													18	40					1.87028e-06	2.76937e-06	1	0	A	45799384	C	A	45799384	3	1	106	1	0	0	0	0	1	0	0	0	11004	739	26	4	503	4	OR13A1	10	45799384	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	8368717	45799384	89735363	192	20332											
FAM21B	55747	broad.mit.edu	37	chr10	47915915	47915915	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatctcaagccctcatCagaaacaaagactcaaaaag	21	5	4	11	0	4	2	4	0	1	2	5	2	4	2	1	0	2	0	1	0	7	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:47915915C>A	ENST00000358474.5	+	15	1322	c.1322C>A	c.(1321-1323)tCa>tAa	p.S441*		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN	family with sequence similarity 21, member B	441					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AAGCCCTCATCAGAAACAAAG	0.403													11	130					7.93312e-07	1.18003e-06	1	0	A	47915915	C	A	47915915	4	1	106	1	0	0	0	0	0	1	0	0	5584	838	29	2	1380	2	FAM21B	10	47915915	Nonsense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	2116531	47915915	87618832	193	20333											
SLC18A3	6572	broad.mit.edu	37	chr10	50819675	50819675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgccgtggtggccggcGcgctcaccacctgtaacatt	7	9	11	14	4	1	0	1	0	0	0	1	0	1	0	4	3	2	2	4	3	1	3	rs149097990		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:50819675G>A	ENST00000374115.3	+	1	1329	c.889G>A	c.(889-891)Gcg>Acg	p.A297T	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	297					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GGTGGCCGGCGCGCTCACCAC	0.642													25	44					0	0	0	0	A	50819675	G	A	50819675	3	1	106	1	0	0	0	0	1	0	0	0	14515	1087	38	1	891	1	SLC18A3	10	50819675	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	2903760	50819675	84715072	194	20334											
A1CF	29974	broad.mit.edu	37	chr10	52619639	52619639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgctggaccagtgcgCggagggctgcttccttctga	4	10	15	12	3	1	1	0	1	1	0	2	3	2	3	2	3	3	3	2	3	0	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:52619639C>T	ENST00000282641.2	-	3	249	c.62G>A	c.(61-63)cGc>cAc	p.R21H	A1CF_ENST00000373997.3_Missense_Mutation_p.R21H|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000395495.1_Missense_Mutation_p.R21H|A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000373993.1_Missense_Mutation_p.R21H|A1CF_ENST00000374001.1_Missense_Mutation_p.R21H	NM_138932.2	NP_620310.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	21					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GACCAGTGCGCGGAGGGCTGC	0.478													21	34					0	0	0	0	T	52619639	C	T	52619639	3	4	106	1	0	0	0	0	1	0	0	0	2	768	27	1	1893	1	A1CF	10	52619639	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1799964	52619639	82915108	195	20335											
TMEM26	219623	broad.mit.edu	37	chr10	63212740	63212740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcaagcagccagtaccgcgGctccttcttcacctcggtca	7	8	9	17	4	3	0	2	0	1	0	5	0	4	0	4	2	3	4	4	2	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:63212740G>T	ENST00000399298.3	-	1	468	c.100C>A	c.(100-102)Ccg>Acg	p.P34T	RP11-809M12.1_ENST00000389640.4_RNA|TMEM26_ENST00000399293.1_Missense_Mutation_p.P34T	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	34						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CAGTACCGCGGCTCCTTCTTC	0.607													32	64					1.99505e-19	3.6188e-19	1	0	T	63212740	G	T	63212740	3	4	106	1	0	0	0	0	1	0	0	0	16245	1203	42	4	1030	4	TMEM26	10	63212740	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	10593101	63212740	72322007	196	20336											
MYPN	84665	broad.mit.edu	37	chr10	69935118	69935118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaaatacaaagtctcCtcaaccagtgaatgatgata	19	8	7	7	0	2	4	1	3	1	1	3	5	2	4	2	0	2	0	2	0	8	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:69935118C>T	ENST00000358913.5	+	12	3091	c.2603C>T	c.(2602-2604)cCt>cTt	p.P868L	MYPN_ENST00000354393.2_Missense_Mutation_p.P593L|MYPN_ENST00000540630.1_Missense_Mutation_p.P868L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	868						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ACAAAGTCTCCTCAACCAGTG	0.433													14	24					0	0	0	0	T	69935118	C	T	69935118	3	4	106	1	0	0	0	0	1	0	0	0	10168	681	24	4	2645	4	MYPN	10	69935118	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	6722378	69935118	65599629	197	20337											
SLC25A16	8034	broad.mit.edu	37	chr10	70246946	70246946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcctaattgcattcgcCgacgagtcacatcaaatggg	11	10	9	11	3	2	0	2	0	0	0	4	2	3	0	2	1	1	2	2	1	2	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:70246946C>T	ENST00000265870.2	-	8	895	c.797G>A	c.(796-798)cGg>cAg	p.R266Q	SLC25A16_ENST00000539557.1_Missense_Mutation_p.R168Q|SLC25A16_ENST00000493963.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	266					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						TTGCATTCGCCGACGAGTCAC	0.333													52	125					0	0	0	0	T	70246946	C	T	70246946	3	4	106	1	0	0	0	0	1	0	0	0	14566	652	23	1	209	1	SLC25A16	10	70246946	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	311828	70246946	65287801	198	20338											
SAR1A	56681	broad.mit.edu	37	chr10	71913632	71913632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaagcccaaatatctcacGgagtttttcttcactgattg	12	14	6	9	1	3	1	2	1	2	0	4	2	3	2	1	1	1	1	1	1	4	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:71913632G>A	ENST00000373238.1	-	6	799	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	SAR1A_ENST00000373241.4_Missense_Mutation_p.R148C|SAR1A_ENST00000431664.2_Missense_Mutation_p.R148C|SAR1A_ENST00000458634.2_Missense_Mutation_p.R105C|SAR1A_ENST00000373242.1_Missense_Mutation_p.R148C			Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)	148					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AATATCTCACGGAGTTTTTCT	0.338													31	196					0	0	0	0	A	71913632	G	A	71913632	3	1	106	1	0	0	0	0	1	0	0	0	13925	1116	39	1	162	1	SAR1A	10	71913632	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1666686	71913632	63621115	199	20339											
KCNMA1	3778	broad.mit.edu	37	chr10	78674745	78674745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgtgatggatggttgacGtaacatcccgtgcactgggc	8	11	14	8	2	0	2	0	2	0	0	1	3	1	3	1	3	2	4	1	3	1	3	rs143599540	by1000genomes	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:78674745G>A	ENST00000286627.5	-	23	3743	c.2791C>T	c.(2791-2793)Cgt>Tgt	p.R931C	KCNMA1_ENST00000286628.8_Missense_Mutation_p.R989C|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R989C|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R972C|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R931C|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R993C|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R992C|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R931C	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	989					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GATGGTTGACGTAACATCCCG	0.483													22	167					0	0	0	0	A	78674745	G	A	78674745	3	1	106	1	0	0	0	0	1	0	0	0	8126	1145	40	1	794	1	KCNMA1	10	78674745	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	6761113	78674745	56860002	200	20340											
RGR	5995	broad.mit.edu	37	chr10	86017674	86017674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccactctgccagcaaggaCgctgctgctcggctggggcc	6	6	13	16	2	1	0	0	0	1	0	2	1	1	1	3	4	4	5	3	4	1	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:86017674C>A	ENST00000359452.4	+	6	706	c.668C>A	c.(667-669)aCg>aAg	p.T223K	RGR_ENST00000358110.5_Intron|RGR_ENST00000479725.1_3'UTR	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	219					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CCAGCAAGGACGCTGCTGCTC	0.552													11	35					1.08611e-07	1.63041e-07	1	0	A	86017674	C	A	86017674	3	1	106	1	0	0	0	0	1	0	0	0	13374	536	19	3	690	3	RGR	10	86017674	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	7342929	86017674	49517073	201	20341											
PDLIM1	9124	broad.mit.edu	37	chr10	97050586	97050586	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcttacccgggaaatGgcgagaggctgctcgaagtc	8	8	14	11	3	1	1	0	0	1	1	3	4	1	2	1	3	3	4	1	3	3	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:97050586G>A	ENST00000329399.6	-	1	195	c.87C>T	c.(85-87)gcC>gcT	p.A29A	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	29	PDZ.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCCGGGAAATGGCGAGAGGCT	0.706													9	21					0	0	0	0	A	97050586	G	A	97050586	2	1	106	1	0	0	0	0	0	0	0	1	11750	1335	47	4		4	PDLIM1	10	97050586	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	11032912	97050586	38484161	202	20342											
TCTN3	26123	broad.mit.edu	37	chr10	97440281	97440281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgatacatgagcttgcGggttggacaggagacctaca	10	9	12	10	1	0	3	0	2	0	1	1	5	1	4	2	3	4	2	2	3	2	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:97440281G>A	ENST00000265993.8	-	13	1781	c.1538C>T	c.(1537-1539)cCg>cTg	p.P513L	TCTN3_ENST00000371217.4_Missense_Mutation_p.P526L|TCTN3_ENST00000430368.1_Missense_Mutation_p.P365L	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3	513					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		ATGAGCTTGCGGGTTGGACAG	0.458													35	148					0	0	0	0	A	97440281	G	A	97440281	3	1	106	1	0	0	0	0	1	0	0	0	15818	1116	39	1	293	1	TCTN3	10	97440281	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	389695	97440281	38094466	203	20343											
LCOR	84458	broad.mit.edu	37	chr10	98714903	98714903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacagctgccagccttGggccatctggattacagaat	9	10	10	12	0	1	1	0	0	1	1	2	2	2	2	4	2	4	1	4	2	2	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:98714903G>A	ENST00000540664.1	+	8	1069	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	LCOR_ENST00000371103.3_Missense_Mutation_p.G176R|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371097.4_Missense_Mutation_p.G176R|LCOR_ENST00000356016.3_Missense_Mutation_p.G176R	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TGCCAGCCTTGGGCCATCTGG	0.463													24	33					0	0	0	0	A	98714903	G	A	98714903	3	1	106	1	0	0	0	0	1	0	0	0	8742	1348	47	4	536	4	LCOR	10	98714903	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1274622	98714903	36819844	204	20344											
CPXM2	119587	broad.mit.edu	37	chr10	125530532	125530532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctggtgatattgggacaCatttcattcacaactttcat	11	16	6	8	0	4	1	3	1	1	0	4	2	4	2	0	2	1	0	0	2	2	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:125530532C>T	ENST00000241305.3	-	8	1156	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	334					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TATTGGGACACATTTCATTCA	0.433													36	257					0	0	0	0	T	125530532	C	T	125530532	3	4	106	1	0	0	0	0	1	0	0	0	3868	478	17	4	1296	4	CPXM2	10	125530532	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	26815629	125530532	10004215	205	20345											
NKX6-2	84504	broad.mit.edu	37	chr10	134598892	134598892	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagcgcgaagatctgctgGcccgagaaggtcgggcgcga	8	5	16	12	6	1	2	0	0	1	2	3	5	2	2	2	3	2	1	2	3	2	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:134598892G>T	ENST00000368592.5	-	2	574	c.471C>A	c.(469-471)ggC>ggA	p.G157G		NM_177400.2	NP_796374.1	Q9C056	NKX62_HUMAN	NK6 homeobox 2	157						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		AGATCTGCTGGCCCGAGAAGG	0.692													7	8					8.12818e-05	0.000117168	1	0	T	134598892	G	T	134598892	2	4	106	1	0	0	0	0	0	0	0	1	10528	1190	42	4		4	NKX6-2	10	134598892	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	9068360	134598892	935855	206	20346											
KNDC1	85442	broad.mit.edu	37	chr10	135015044	135015044	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaggaccagcagcagggCcccctgctcacccacctcgg	7	3	12	19	1	1	0	1	0	0	0	2	1	1	1	6	4	3	3	6	4	0	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:135015044C>G	ENST00000304613.3	+	17	3050	c.3029C>G	c.(3028-3030)gCc>gGc	p.A1010G	KNDC1_ENST00000368572.2_Missense_Mutation_p.A1012G|KNDC1_ENST00000368571.2_Missense_Mutation_p.A945G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1010					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGCAGCAGGGCCCCCTGCTCA	0.627													12	60					0	0	0	0	G	135015044	C	G	135015044	3	3	106	1	0	0	0	0	1	0	0	0	8478	739	26	4	3095	4	KNDC1	10	135015044	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	416152	135015044	519703	207	20347											
OR51G2	81282	broad.mit.edu	37	chr11	4936073	4936073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaccacctggaccaggtggGgtgcctgctttccaaagcga	8	8	13	12	1	0	1	0	1	0	0	1	3	1	2	5	4	3	1	5	4	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:4936073G>T	ENST00000322013.3	-	1	849	c.821C>A	c.(820-822)cCc>cAc	p.P274H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACCAGGTGGGGTGCCTGCTT	0.507													28	16					1.16021e-09	1.81682e-09	1	0	T	4936073	G	T	4936073	3	4	106	1	0	0	0	0	1	0	0	0	11170	1232	43	4	127	4	OR51G2	11	4936073	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08		4936073	130070443	208	20348											
MMP26	56547	broad.mit.edu	37	chr11	5013232	5013232	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaactcatgagattgggCattctttgggcctgcagcac	8	12	11	10	0	2	1	1	1	1	1	2	2	2	1	1	2	4	4	1	2	1	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:5013232C>A	ENST00000380390.1	+	6	850	c.634C>A	c.(634-636)Cat>Aat	p.H212N	MMP26_ENST00000300762.1_Missense_Mutation_p.H212N			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	212					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAGATTGGGCATTCTTTGGG	0.413													5	33					0.000602214	0.000860495	1	0	A	5013232	C	A	5013232	3	1	106	1	0	0	0	0	1	0	0	0	9733	710	25	4	652	4	MMP26	11	5013232	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	77159	5013232	129993284	209	20349											
OR51B2	79345	broad.mit.edu	37	chr11	5345007	5345007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtggaggcagaaagcaCgtgtgataacatgagatttg	12	10	14	5	1	0	3	0	2	0	2	0	5	0	4	0	3	2	2	0	3	2	3	rs140971687		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:5345007C>A	ENST00000328813.2	-	1	575	c.521G>T	c.(520-522)cGt>cTt	p.R174L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGAAAGCACGTGTGATAAC	0.388													20	9					4.63292e-17	8.02467e-17	1	0	A	5345007	C	A	5345007	3	1	106	1	0	0	0	0	1	0	0	0	11160	536	19	3	421	3	OR51B2	11	5345007	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	331775	5345007	129661509	210	20350											
OR51B6	390058	broad.mit.edu	37	chr11	5373354	5373354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttatttgcaatggtctTgttggactttctcatcatct	7	20	7	7	0	4	0	2	0	3	0	5	1	4	1	0	2	1	3	0	2	2	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:5373354T>C	ENST00000380219.1	+	1	617	c.617T>C	c.(616-618)tTg>tCg	p.L206S	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAATGGTCTTGTTGGACTTT	0.443													12	20					0	0	0	0	C	5373354	T	C	5373354	3	2	106	1	0	0	0	0	1	0	0	0	11163	1821	63	5	619	5	OR51B6	11	5373354	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	28347	5373354	129633162	211	20351											
DCHS1	8642	broad.mit.edu	37	chr11	6661270	6661270	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgataatgcctgaggtGgggtcaatggagaaccagtg	11	9	16	5	0	1	3	1	2	0	1	1	4	1	3	2	4	2	1	2	4	4	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:6661270G>T	ENST00000299441.3	-	2	1986	c.1575C>A	c.(1573-1575)ccC>ccA	p.P525P		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	525	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTGAGGTGGGGTCAATGG	0.587													18	14					1.67942e-08	2.55037e-08	1	0	T	6661270	G	T	6661270	2	4	106	1	0	0	0	0	0	0	0	1	4319	1335	47	4		4	DCHS1	11	6661270	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1287916	6661270	128345246	212	20352											
COPB1	1315	broad.mit.edu	37	chr11	14496152	14496152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatccagaaggaatcctctCaagggaggtctgcaaagcaa	14	6	10	11	0	2	1	1	0	2	1	5	3	4	3	3	3	2	2	3	3	5	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:14496152C>G	ENST00000249923.3	-	14	1926	c.1626G>C	c.(1624-1626)ttG>ttC	p.L542F	COPB1_ENST00000526191.1_5'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.L542F	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	542					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GGAATCCTCTCAAGGGAGGTC	0.443													28	133					0	0	0	0	G	14496152	C	G	14496152	3	3	106	1	0	0	0	0	1	0	0	0	3758	825	29	2	1271	2	COPB1	11	14496152	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	7834882	14496152	120510364	213	20353											
TPH1	7166	broad.mit.edu	37	chr11	18057644	18057644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaaattctgagtttcttcTttttgattttcgggactcga	7	19	7	8	2	4	2	1	2	3	0	6	4	4	3	0	1	0	1	0	1	1	7			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:18057644T>C	ENST00000250018.2	-	2	725	c.163A>G	c.(163-165)Aga>Gga	p.R55G	TPH1_ENST00000341556.2_Missense_Mutation_p.R55G	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	55	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GAGTTTCTTCTTTTTGATTTT	0.353													28	32					0	0	0	0	C	18057644	T	C	18057644	3	2	106	1	0	0	0	0	1	0	0	0	16496	1617	56	5	1207	5	TPH1	11	18057644	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	3561492	18057644	116948872	214	20354											
MRGPRX3	117195	broad.mit.edu	37	chr11	18158887	18158887	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcgctgacaggaaacgcGgttgtgctctggctcctggg	5	9	16	11	4	1	1	0	1	1	0	3	2	2	2	1	4	2	4	1	4	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:18158887G>A	ENST00000396275.2	+	3	499	c.138G>A	c.(136-138)gcG>gcA	p.A46A		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	46						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAGGAAACGCGGTTGTGCTCT	0.602													6	131					0	0	0	0	A	18158887	G	A	18158887	2	1	106	1	0	0	0	0	0	0	0	1	9838	1103	39	1		1	MRGPRX3	11	18158887	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	101243	18158887	116847629	215	20355											
E2F8	79733	broad.mit.edu	37	chr11	19256552	19256556	+	Frame_Shift_Del	DEL	TATGT	TATGT	-																															tttggcgaggcggctcaccaTatgtaaactctctaggacgt																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:19256552_19256556delTATGT	ENST00000527884.1	-	5	733_737	c.501_505delACATA	c.(499-507)tttgfs	p.LHM167fs	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Frame_Shift_Del_p.LHM167fs	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	167					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGGCTCACCATATGTAAACTCTCTA	0.444													10	25	---	---	---	---					-	19256556	TATGT	-	19256552	7	5	106	1	0	1	0	1	0	0	0	0	4909	1406	49	0	2134	0	E2F8	11	19256552	Frame_Shift_Del	DEL	TATGT	TCGA-CN-6992-01A-11D-1912-08	1097665	19256552	115749964	216	20356											
ANO5	203859	broad.mit.edu	37	chr11	22301227	22301227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcaacaaattaaaagaGaacttgggaattaattctaa	19	10	7	5	0	2	1	1	0	1	1	2	4	2	2	0	1	3	1	0	1	8	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:22301227G>T	ENST00000324559.8	+	22	2975	c.2658G>T	c.(2656-2658)gaG>gaT	p.E886D		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	886						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AATTAAAAGAGAACTTGGGAA	0.348													17	38					1.5739e-10	2.51901e-10	1	0	T	22301227	G	T	22301227	3	4	106	1	0	0	0	0	1	0	0	0	699	933	33	2	2744	2	ANO5	11	22301227	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	3044675	22301227	112705289	217	20357											
SLC5A12	159963	broad.mit.edu	37	chr11	26734190	26734190	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccatgaccacttaccgTctgtacaatgtagatgaccg	11	9	9	12	2	1	3	0	2	1	1	1	3	1	3	4	0	3	3	4	0	4	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:26734190T>A	ENST00000396005.3	-	2	712	c.403A>T	c.(403-405)Acg>Tcg	p.T135S	SLC5A12_ENST00000280467.6_Missense_Mutation_p.T135S	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	135					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CCACTTACCGTCTGTACAATG	0.423													136	207					0	0	0	0	A	26734190	T	A	26734190	3	1	106	1	0	0	0	0	1	0	0	0	14752	1667	58	5	1509	5	SLC5A12	11	26734190	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	4432963	26734190	108272326	218	20358											
RAG1	5896	broad.mit.edu	37	chr11	36595801	36595801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtcttttgccgggtctGcattctcagatgcctcaaag	7	13	10	11	1	4	1	2	0	3	1	5	1	4	1	2	1	3	2	2	1	1	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:36595801G>T	ENST00000299440.5	+	2	1059	c.947G>T	c.(946-948)tGc>tTc	p.C316F		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	316					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TGCCGGGTCTGCATTCTCAGA	0.507									Familial Hemophagocytic Lymphohistiocytosis				34	32					1.71269e-34	3.27973e-34	1	0	T	36595801	G	T	36595801	3	4	106	1	0	0	0	0	1	0	0	0	13085	1319	46	4	949	4	RAG1	11	36595801	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	9861611	36595801	98410715	219	20359											
TTC17	55761	broad.mit.edu	37	chr11	43428727	43428727	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataactatactatcccagaaGaagaaattgggtctttctta	15	13	6	7	0	2	3	0	0	2	3	3	3	3	3	1	1	2	0	1	1	8	7			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:43428727G>T	ENST00000039989.4	+	14	1815	c.1801G>T	c.(1801-1803)Gaa>Taa	p.E601*	TTC17_ENST00000299240.6_Nonsense_Mutation_p.E601*|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	601							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TATCCCAGAAGAAGAAATTGG	0.284													31	37					1.36615e-20	2.50588e-20	1	0	T	43428727	G	T	43428727	4	4	106	1	0	0	0	0	0	1	0	0	16780	943	33	2	1855	2	TTC17	11	43428727	Nonsense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	6832926	43428727	91577789	220	20360											
OR4C16	219428	broad.mit.edu	37	chr11	55340173	55340173	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaagcctgttcagaaacCtatgtggttaacctactcct	13	11	6	11	0	1	1	1	0	0	1	2	1	2	1	4	1	5	2	4	1	6	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:55340173C>A	ENST00000314634.3	+	1	570	c.570C>A	c.(568-570)acC>acA	p.T190T		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTTCAGAAACCTATGTGGTTA	0.433													33	43					6.00712e-18	1.05732e-17	1	0	A	55340173	C	A	55340173	2	1	106	1	0	0	0	0	0	0	0	1	11120	668	24	4		4	OR4C16	11	55340173	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	11911446	55340173	79666343	221	20361											
CLP1	10978	broad.mit.edu	37	chr11	57428441	57428441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgaactgaaacgggacctcCcccactttgtacgcactgtg	10	9	9	13	2	0	2	0	2	0	0	1	3	1	3	3	1	3	2	3	1	3	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:57428441C>T	ENST00000533682.1	+	3	1536	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	CLP1_ENST00000302731.4_Missense_Mutation_p.P207S|CLP1_ENST00000529430.1_Missense_Mutation_p.P282S|CLP1_ENST00000525602.1_Missense_Mutation_p.P271S			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	271					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						ACGGGACCTCCCCCACTTTGT	0.542													51	92					0	0	0	0	T	57428441	C	T	57428441	3	4	106	1	0	0	0	0	1	0	0	0	3580	623	22	4	817	4	CLP1	11	57428441	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	2088268	57428441	77578075	222	20362											
OR5A2	219981	broad.mit.edu	37	chr11	59189605	59189605	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcatagaatatggacacCaccttgtccctgtttaggga	12	10	10	9	0	0	1	0	0	0	1	1	3	1	3	3	3	0	2	3	3	5	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:59189605C>A	ENST00000302040.4	-	1	844	c.822G>T	c.(820-822)gtG>gtT	p.V274V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ATATGGACACCACCTTGTCCC	0.468													27	14					5.61819e-17	9.70549e-17	1	0	A	59189605	C	A	59189605	2	1	106	1	0	0	0	0	0	0	0	1	11211	581	21	4		4	OR5A2	11	59189605	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1761164	59189605	75816911	223	20363											
AHNAK	79026	broad.mit.edu	37	chr11	62298255	62298255	+	Frame_Shift_Del	DEL	C	C	-																															gggcacagacacatccacatCccctttgactttggggcctt																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:62298255delC	ENST00000378024.4	-	5	3908	c.3634delG	c.(3634-3636)atfs	p.D1212fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1212					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCCACATCCCCTTTGACT	0.478													16	456	---	---	---	---					-	62298255	C	-	62298255	7	5	106	1	0	1	0	1	0	0	0	0	414	855	30	0	14158	0	AHNAK	11	62298255	Frame_Shift_Del	DEL	C	TCGA-CN-6992-01A-11D-1912-08	3108650	62298255	72708261	224	20364											
SLC22A25	387601	broad.mit.edu	37	chr11	62948160	62948160	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacaggaaacagattctttTacatatgttgggtatgcgga	12	12	12	5	1	1	1	0	0	1	1	1	4	1	4	0	4	3	2	0	4	4	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:62948160T>C	ENST00000403374.2	-	7	847	c.544A>G	c.(544-546)Aaa>Gaa	p.K182E	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000306494.6_Missense_Mutation_p.K348E			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	348					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CAGATTCTTTTACATATGTTG	0.373													29	16					0	0	0	0	C	62948160	T	C	62948160	3	2	106	1	0	0	0	0	1	0	0	0	14542	1763	61	5	617	5	SLC22A25	11	62948160	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	649905	62948160	72058356	225	20365											
PC	5091	broad.mit.edu	37	chr11	66619265	66619265	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaccccaggctcacttgaAgaccacgttgtctgggtagt	8	9	10	14	1	2	2	1	1	1	1	2	2	2	2	4	2	0	3	4	2	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:66619265A>T	ENST00000393960.1	-	16	2259	c.1978T>A	c.(1978-1980)Ttc>Atc	p.F660I	PC_ENST00000393955.2_Missense_Mutation_p.F660I|PC_ENST00000393958.2_Missense_Mutation_p.F660I	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	660	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCTCACTTGAAGACCACGTTG	0.627													17	25					0	0	0	0	T	66619265	A	T	66619265	3	4	106	1	0	0	0	0	1	0	0	0	11568	72	3	5	1590	5	PC	11	66619265	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	3671105	66619265	68387251	226	20366											
RSF1	51773	broad.mit.edu	37	chr11	77413134	77413134	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtttttttagtggtatcttGgcctgctggtcatttttaag	5	20	10	6	1	2	0	1	0	1	0	2	0	2	0	1	3	1	3	1	3	3	9			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:77413134G>A	ENST00000308488.6	-	6	1442	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A	RSF1_ENST00000360355.2_Silent_p.A349A|RSF1_ENST00000480887.1_Silent_p.A128A			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	380					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GTGGTATCTTGGCCTGCTGGT	0.358													55	72					0	0	0	0	A	77413134	G	A	77413134	2	1	106	1	0	0	0	0	0	0	0	1	13784	1335	47	4		4	RSF1	11	77413134	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	10793869	77413134	57593382	227	20367											
C11orf52	91894	broad.mit.edu	37	chr11	111796859	111796859	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttagaaaacgctacagagtAtgcgacccttcgcttccccc	10	10	7	14	3	0	2	0	0	0	2	2	3	1	2	3	0	3	3	3	0	5	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:111796859A>G	ENST00000278601.5	+	4	404	c.308A>G	c.(307-309)tAt>tGt	p.Y103C	C11orf52_ENST00000527286.1_3'UTR|HSPB2-C11orf52_ENST00000534100.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	103										lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		GCTACAGAGTATGCGACCCTT	0.547													26	14					0	0	0	0	G	111796859	A	G	111796859	3	3	106	1	0	0	0	0	1	0	0	0	1658	449	16	5	322	5	C11orf52	11	111796859	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	34383725	111796859	23209657	228	20368											
CADM1	23705	broad.mit.edu	37	chr11	115049407	115049407	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaatgatgagcaagcaCagcatggcgaacaccaccac	15	3	9	14	1	0	3	0	2	0	1	0	4	0	3	3	1	4	3	3	1	3	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:115049407C>G	ENST00000542447.2	-	8	1211	c.1083G>C	c.(1081-1083)ctG>ctC	p.L361L	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Silent_p.L390L|CADM1_ENST00000452722.2_Silent_p.L389L|CADM1_ENST00000331581.6_Silent_p.L418L|CADM1_ENST00000537058.1_Silent_p.L400L	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	389					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGAGCAAGCACAGCATGGCGA	0.542													52	45					0	0	0	0	G	115049407	C	G	115049407	2	3	106	1	0	0	0	0	0	0	0	1	2591	465	17	4		4	CADM1	11	115049407	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	3252548	115049407	19957109	229	20369											
HINFP	25988	broad.mit.edu	37	chr11	119003446	119003446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaaccacatgcgctttcGtcacagtgaggaccggccct	8	7	10	16	4	1	1	1	1	0	0	2	2	1	2	4	2	2	2	4	2	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:119003446G>T	ENST00000350777.2	+	7	893	c.830G>T	c.(829-831)cGt>cTt	p.R277L	HINFP_ENST00000527410.1_Missense_Mutation_p.R277L	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	277					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATGCGCTTTCGTCACAGTGAG	0.542													40	29					1.30091e-30	2.46946e-30	1	0	T	119003446	G	T	119003446	3	4	106	1	0	0	0	0	1	0	0	0	7160	1145	40	3	852	3	HINFP	11	119003446	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	3954039	119003446	16003070	230	20370											
TECTA	7007	broad.mit.edu	37	chr11	120989055	120989055	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtgttttgggatgacttGaactgcaccgtcaagtgccg	8	11	14	8	2	1	2	1	2	0	0	1	4	1	3	2	2	3	2	2	2	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:120989055G>A	ENST00000392793.1	+	7	1102	c.831G>A	c.(829-831)ttG>ttA	p.L277L	TECTA_ENST00000264037.2_Silent_p.L277L			O75443	TECTA_HUMAN	tectorin alpha	277	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGATGACTTGAACTGCACCG	0.512													18	16					0	0	0	0	A	120989055	G	A	120989055	2	1	106	1	0	0	0	0	0	0	0	1	15841	1281	45	2		2	TECTA	11	120989055	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1985609	120989055	14017461	231	20371											
KIRREL3	84623	broad.mit.edu	37	chr11	126301325	126301325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgtacttctctgggaaCgggcacagcagaacgccacg	9	6	11	15	4	1	1	0	0	1	1	3	2	2	2	2	2	4	3	2	2	3	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:126301325C>A	ENST00000525144.2	-	14	1934	c.1685G>T	c.(1684-1686)cGt>cTt	p.R562L	KIRREL3_ENST00000416561.2_Missense_Mutation_p.R29L|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R550L|KIRREL3_ENST00000525704.2_Missense_Mutation_p.R562L	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	562					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCTCTGGGAACGGGCACAGCA	0.607													16	12					5.01169e-05	7.30499e-05	1	0	A	126301325	C	A	126301325	3	1	106	1	0	0	0	0	1	0	0	0	8378	536	19	3	774	3	KIRREL3	11	126301325	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	5312270	126301325	8705191	232	20372											
WNK1	65125	broad.mit.edu	37	chr12	990928	990928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacccaagctacccagcCgaccactttggcttcctctg	9	8	7	17	1	1	1	0	0	1	1	2	2	2	1	5	1	3	2	5	1	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:990928C>T	ENST00000537687.1	+	13	4605	c.3962C>T	c.(3961-3963)cCg>cTg	p.P1321L	WNK1_ENST00000530271.2_Missense_Mutation_p.P1559L|WNK1_ENST00000535572.1_Missense_Mutation_p.P814L|WNK1_ENST00000340908.4_Missense_Mutation_p.P654L|WNK1_ENST00000315939.6_Missense_Mutation_p.P1061L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1061					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.P1061L(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCTACCCAGCCGACCACTTTG	0.473													21	100					0	0	0	0	T	990928	C	T	990928	3	4	106	1	0	0	0	0	1	0	0	0	17473	652	23	1	4734	1	WNK1	12	990928	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08		990928	132860967	233	20373											
KCNA6	3742	broad.mit.edu	37	chr12	4919476	4919476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacttcttcgaccgcaaccGgcccagcttcgacgccatcc	7	8	8	18	5	1	0	0	0	1	0	4	2	2	0	5	1	3	3	5	1	2	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:4919476G>A	ENST00000433855.1	+	1	1135	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	KCNA6_ENST00000280684.3_Missense_Mutation_p.R90Q	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	90						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GACCGCAACCGGCCCAGCTTC	0.647										HNSCC(72;0.22)			40	50					0	0	0	0	A	4919476	G	A	4919476	3	1	106	1	0	0	0	0	1	0	0	0	8060	1116	39	1	271	1	KCNA6	12	4919476	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	3928548	4919476	128932419	234	20374											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438763	6438763	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggcacgttctccaccacGgcgtacagcgtcgcggggtc	5	6	16	14	6	1	0	0	0	1	0	4	0	1	0	2	5	2	3	2	5	1	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:6438763G>A	ENST00000162749.2	-	10	1382	c.1083C>T	c.(1081-1083)gcC>gcT	p.A361A	TNFRSF1A_ENST00000540022.1_Silent_p.A318A	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	361	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TCTCCACCACGGCGTACAGCG	0.726													3	14					0	0	0	0	A	6438763	G	A	6438763	2	1	106	1	0	0	0	0	0	0	0	1	16387	1103	39	1		1	TNFRSF1A	12	6438763	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1519287	6438763	127413132	235	20375											
ATF7IP	55729	broad.mit.edu	37	chr12	14578009	14578009	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttggagaagatgctatatCtagcagtatggaaattgacc	13	12	10	6	0	2	3	0	1	2	2	2	5	2	4	1	2	2	3	1	2	6	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:14578009C>G	ENST00000544627.1	+	2	1504	c.1184C>G	c.(1183-1185)tCt>tGt	p.S395C	ATF7IP_ENST00000536444.1_Missense_Mutation_p.S387C|ATF7IP_ENST00000540793.1_Missense_Mutation_p.S387C|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S387C|ATF7IP_ENST00000543189.1_Missense_Mutation_p.S387C|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	387	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GATGCTATATCTAGCAGTATG	0.343													15	91					0	0	0	0	G	14578009	C	G	14578009	3	3	106	1	0	0	0	0	1	0	0	0	1091	913	32	2	1162	2	ATF7IP	12	14578009	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	8139246	14578009	119273886	236	20376											
ABCC9	10060	broad.mit.edu	37	chr12	22063217	22063217	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggataagttagacgtagaGagcctaaggattttattata	15	13	10	3	1	0	2	0	0	0	2	0	5	0	4	1	2	1	2	1	2	7	8			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:22063217G>T	ENST00000261200.4	-	8	1193	c.1194C>A	c.(1192-1194)ctC>ctA	p.L398L	ABCC9_ENST00000261201.4_Silent_p.L398L|ABCC9_ENST00000345162.2_Silent_p.L398L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	398	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAGACGTAGAGAGCCTAAGGA	0.353													8	58					2.17888e-05	3.19015e-05	1	0	T	22063217	G	T	22063217	2	4	106	1	0	0	0	0	0	0	0	1	59	929	33	2		2	ABCC9	12	22063217	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	7485208	22063217	111788678	237	20377											
DENND5B	160518	broad.mit.edu	37	chr12	31542309	31542309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatccttcccaatgttcCtgggtgcagtattaatagca	9	13	8	11	0	0	0	0	0	0	0	3	0	3	0	4	1	3	4	4	1	4	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:31542309C>T	ENST00000389082.5	-	20	3854	c.3590G>A	c.(3589-3591)aGg>aAg	p.R1197K	DENND5B_ENST00000306833.6_Missense_Mutation_p.R1232K|DENND5B_ENST00000536562.1_Missense_Mutation_p.R1232K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1197	RUN 2.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCAATGTTCCTGGGTGCAGT	0.373													13	24					0	0	0	0	T	31542309	C	T	31542309	3	4	106	1	0	0	0	0	1	0	0	0	4474	681	24	4	242	4	DENND5B	12	31542309	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	9479092	31542309	102309586	238	20378											
PRPF40B	25766	broad.mit.edu	37	chr12	50035774	50035774	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaagagggctgccgcactGgacgcaggcaacatcaagct	12	4	13	12	2	1	1	1	0	0	1	1	3	1	2	1	3	3	5	1	3	3	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:50035774G>A	ENST00000261897.1	+	18	2297	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000380281.1_Silent_p.L595L|PRPF40B_ENST00000548825.2_Silent_p.L617L			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	595					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CTGCCGCACTGGACGCAGGCA	0.567													22	90					0	0	0	0	A	50035774	G	A	50035774	2	1	106	1	0	0	0	0	0	0	0	1	12652	1335	47	4		4	PRPF40B	12	50035774	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	18493465	50035774	83816121	239	20379											
PRPF40B	25766	broad.mit.edu	37	chr12	50036073	50036073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggaggaggcacgcaGgatgcggcgcagggaagctg	11	2	21	7	3	0	1	0	0	0	1	0	6	0	5	0	7	2	4	0	7	2	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:50036073G>A	ENST00000261897.1	+	19	2386	c.1835G>A	c.(1834-1836)aGg>aAg	p.R612K	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000380281.1_Missense_Mutation_p.R625K|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R647K			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	625					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GAGGCACGCAGGATGCGGCGC	0.637													16	64					0	0	0	0	A	50036073	G	A	50036073	3	1	106	1	0	0	0	0	1	0	0	0	12652	1000	35	4	1948	4	PRPF40B	12	50036073	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	299	50036073	83815822	240	20380											
SCN8A	6334	broad.mit.edu	37	chr12	52078000	52078000	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaaactctcttcagatttAgtgccacgcctgccttgtac	9	12	8	12	1	2	1	1	0	1	1	3	2	2	2	3	1	4	1	3	1	4	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:52078000A>G	ENST00000354534.5	+	3	497	c.319A>G	c.(319-321)Agt>Ggt	p.S107G	SCN8A_ENST00000545061.1_Missense_Mutation_p.S107G|SCN8A_ENST00000550891.1_Missense_Mutation_p.S107G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	107					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CTTCAGATTTAGTGCCACGCC	0.358													25	44					0	0	0	0	G	52078000	A	G	52078000	3	3	106	1	0	0	0	0	1	0	0	0	14011	420	15	5	325	5	SCN8A	12	52078000	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	2041927	52078000	81773895	241	20381											
ATF7	11016	broad.mit.edu	37	chr12	53925601	53925601	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgggcgggctgtcaccAtggtgctggcagtacccacc	5	8	14	14	1	2	0	1	0	1	0	2	0	2	0	3	4	2	5	3	4	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:53925601A>G	ENST00000420353.2	-	9	1003	c.854T>C	c.(853-855)aTg>aCg	p.M285T	RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.M285T|ATF7_ENST00000328463.7_Missense_Mutation_p.M296T|ATF7_ENST00000548446.2_Missense_Mutation_p.M296T|ATF7_ENST00000456903.4_Missense_Mutation_p.M285T|ATF7_ENST00000415113.1_Missense_Mutation_p.M264T	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	296	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						GGCTGTCACCATGGTGCTGGC	0.537													12	22					0	0	0	0	G	53925601	A	G	53925601	3	3	106	1	0	0	0	0	1	0	0	0	1090	217	8	5	613	5	ATF7	12	53925601	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	1847601	53925601	79926294	242	20382											
GRIP1	23426	broad.mit.edu	37	chr12	66814550	66814550	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgacgagggggtctccTggttttctactggatggtgc	7	12	15	7	1	2	1	0	1	2	0	3	4	2	2	1	5	2	1	1	5	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:66814550T>A	ENST00000359742.4	-	15	2028	c.1788A>T	c.(1786-1788)ccA>ccT	p.P596P	GRIP1_ENST00000286445.7_Silent_p.P596P|GRIP1_ENST00000398016.3_Silent_p.P544P			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	596	PDZ 5.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGGGGTCTCCTGGTTTTCTAC	0.368													45	82					0	0	0	0	A	66814550	T	A	66814550	2	1	106	1	0	0	0	0	0	0	0	1	6837	1567	55	5		5	GRIP1	12	66814550	Silent	SNP	T	TCGA-CN-6992-01A-11D-1912-08	12888949	66814550	67037345	243	20383											
PTPRR	5801	broad.mit.edu	37	chr12	71286643	71286643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgtctgtagattttttgtGgggctatatccaggctcttc	6	18	10	7	0	2	1	0	0	2	1	4	1	3	1	1	3	0	3	1	3	4	8			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:71286643G>T	ENST00000283228.2	-	2	625	c.173C>A	c.(172-174)cCa>cAa	p.P58Q		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	58					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GATTTTTTGTGGGGCTATATC	0.408													60	126					7.47603e-22	1.37517e-21	1	0	T	71286643	G	T	71286643	3	4	106	1	0	0	0	0	1	0	0	0	12892	1348	47	4	1852	4	PTPRR	12	71286643	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	4472093	71286643	62565252	244	20384											
DUSP6	1848	broad.mit.edu	37	chr12	89745563	89745563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccacagcgccgggtgaagCggtcccggtcctcgccgcgc	4	5	15	17	7	0	1	0	1	0	0	3	1	2	1	5	3	3	0	5	3	1	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:89745563C>A	ENST00000279488.7	-	1	1485	c.254G>T	c.(253-255)cGc>cTc	p.R85L	DUSP6_ENST00000308385.6_Missense_Mutation_p.R85L	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	85	Rhodanese.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CCGGGTGAAGCGGTCCCGGTC	0.687													3	8					0.004672	0.00654682	1	0	A	89745563	C	A	89745563	3	1	106	1	0	0	0	0	1	0	0	0	4865	768	27	3	903	3	DUSP6	12	89745563	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	18458920	89745563	44106332	245	20385											
ANKS1B	56899	broad.mit.edu	37	chr12	99223121	99223121	+	Missense_Mutation	SNP	C	C	A																															actgaggaggagtgtgattaCcactgggttcctgaatggaa																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:99223121C>A	ENST00000547776.2	-	19	2896	c.2897G>T	c.(2896-2898)gGt>gTt	p.G966V	ANKS1B_ENST00000329257.7_Missense_Mutation_p.G966V|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G192V|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000341752.7_5'UTR|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000333732.7_5'UTR|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G192V|ANKS1B_ENST00000549558.2_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	966						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGTGTGATTACCACTGGGTTC	0.438													22	39					7.41877e-09	1.13987e-08	1	0	A	99223121	C	A	99223121	3	1	106	1	0	0	0	0	1	0	0	0	688	507	18	4	1072	4	ANKS1B	12	99223121	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	9477558	99223121	34628774	246	20386	170	2									
ANKS1B	56899	broad.mit.edu	37	chr12	99223122	99223122	+	Missense_Mutation	SNP	C	C	A																															ctgaggaggagtgtgattacCactgggttcctgaatggaaa																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:99223122C>A	ENST00000547776.2	-	19	2895	c.2896G>T	c.(2896-2898)Ggt>Tgt	p.G966C	ANKS1B_ENST00000329257.7_Missense_Mutation_p.G966C|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G192C|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000341752.7_5'UTR|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000333732.7_5'UTR|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G192C|ANKS1B_ENST00000549558.2_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	966						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTGTGATTACCACTGGGTTCC	0.443													22	38					7.41877e-09	1.13987e-08	1	0	A	99223122	C	A	99223122	3	1	106	1	0	0	0	0	1	0	0	0	688	594	21	4	1073	4	ANKS1B	12	99223122	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1	99223122	34628773	247	20387	170	2									
NR1H4	9971	broad.mit.edu	37	chr12	100904813	100904813	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgtaacaaagaagcccCgcatgggcgcgtcagcaggg	10	5	14	12	3	1	1	1	0	0	1	1	1	1	1	3	2	4	3	3	2	3	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:100904813C>A	ENST00000548884.1	+	4	878	c.337C>A	c.(337-339)Cgc>Agc	p.R113S	NR1H4_ENST00000188403.7_Missense_Mutation_p.R123S|NR1H4_ENST00000392986.3_Missense_Mutation_p.R113S|NR1H4_ENST00000549996.1_Missense_Mutation_p.R113S|NR1H4_ENST00000551379.1_Missense_Mutation_p.R123S	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	123					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						AAAGAAGCCCCGCATGGGCGC	0.527													22	51					3.62473e-10	5.759e-10	1	0	A	100904813	C	A	100904813	3	1	106	1	0	0	0	0	1	0	0	0	10690	652	23	3	343	3	NR1H4	12	100904813	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1681691	100904813	32947082	248	20388											
TRPV4	59341	broad.mit.edu	37	chr12	110236583	110236583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgggtgttgtcagcaatggCcaccagcgcatgcagcactg	9	7	13	12	2	1	0	1	0	0	0	1	0	1	0	2	2	4	5	2	2	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:110236583C>T	ENST00000418703.2	-	5	1082	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	TRPV4_ENST00000346520.2_Missense_Mutation_p.A330T|TRPV4_ENST00000541794.1_Missense_Mutation_p.A283T|TRPV4_ENST00000536838.1_Missense_Mutation_p.A296T|TRPV4_ENST00000261740.2_Missense_Mutation_p.A330T|TRPV4_ENST00000537083.1_Missense_Mutation_p.A330T|TRPV4_ENST00000392719.2_Missense_Mutation_p.A283T|TRPV4_ENST00000544971.1_Missense_Mutation_p.A283T	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	330					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCAGCAATGGCCACCAGCGCA	0.592													13	29					0	0	0	0	T	110236583	C	T	110236583	3	4	106	1	0	0	0	0	1	0	0	0	16693	739	26	4	1671	4	TRPV4	12	110236583	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	9331770	110236583	23615312	249	20389											
NAA25	80018	broad.mit.edu	37	chr12	112512522	112512522	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggcctcttcaatcagtcGaaagacagaatcgaaataag	16	7	8	10	2	3	2	2	0	1	2	5	4	3	2	2	1	0	0	2	1	5	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:112512522G>A	ENST00000261745.4	-	9	1071	c.823C>T	c.(823-825)Cga>Tga	p.R275*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	275						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TCAATCAGTCGAAAGACAGAA	0.393													25	145					0	0	0	0	A	112512522	G	A	112512522	4	1	106	1	0	0	0	0	0	1	0	0	10191	1066	37	1	2159	1	NAA25	12	112512522	Nonsense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	2275939	112512522	21339373	250	20390											
TAOK3	51347	broad.mit.edu	37	chr12	118590137	118590137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgattttgctctggtaggcGttgagcagctccatttcctg	5	16	11	9	1	1	2	0	2	1	0	3	2	3	2	2	2	3	5	2	2	1	6	rs143511282	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:118590137G>A	ENST00000392533.3	-	20	2920	c.2430C>T	c.(2428-2430)aaC>aaT	p.N810N	TAOK3_ENST00000537952.1_Silent_p.N350N|TAOK3_ENST00000419821.2_Silent_p.N810N|TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000536979.1_Silent_p.N5N	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	810					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGGTAGGCGTTGAGCAGCT	0.532													43	58					0	0	0	0	A	118590137	G	A	118590137	2	1	106	1	0	0	0	0	0	0	0	1	15640	1136	40	1		1	TAOK3	12	118590137	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	6077615	118590137	15261758	251	20391											
CCDC60	160777	broad.mit.edu	37	chr12	119978426	119978426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctgcctcacagtttgtgcGagaacacatcatccatatgc	10	11	8	12	1	3	1	2	0	1	1	4	2	4	1	2	0	4	1	2	0	2	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:119978426G>A	ENST00000327554.2	+	14	2024	c.1559G>A	c.(1558-1560)cGa>cAa	p.R520Q	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	520										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAGTTTGTGCGAGAACACATC	0.512													12	92					0	0	0	0	A	119978426	G	A	119978426	3	1	106	1	0	0	0	0	1	0	0	0	2858	1058	37	1	1613	1	CCDC60	12	119978426	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1388289	119978426	13873469	252	20392											
PXN	5829	broad.mit.edu	37	chr12	120650198	120650198	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcccttgttgagctgcttGaggcagaaggcacagacgaa	10	8	14	9	1	0	4	0	2	0	2	0	5	0	4	1	2	3	5	1	2	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:120650198G>C	ENST00000397506.3	-	9	2184	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	PXN_ENST00000536957.1_Silent_p.L563L|PXN_ENST00000267257.7_Silent_p.L579L|PXN_ENST00000228307.7_Silent_p.L565L|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000458477.2_Silent_p.L398L|PXN_ENST00000424649.2_Silent_p.L531L			P49023	PAXI_HUMAN	paxillin	565	LIM zinc-binding 1.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAGCTGCTTGAGGCAGAAGG	0.587													4	37					0	0	0	0	C	120650198	G	C	120650198	2	2	106	1	0	0	0	0	0	0	0	1	12934	1277	45	2		2	PXN	12	120650198	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	671772	120650198	13201697	253	20393											
SACS	26278	broad.mit.edu	37	chr13	23909308	23909308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcacttcgaacaccaaCtccattatcatcacgccaca	13	8	3	17	2	3	0	3	0	0	0	5	1	4	0	4	0	2	0	4	0	3	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:23909308C>A	ENST00000382298.3	-	10	9295	c.8707G>T	c.(8707-8709)Gtt>Ttt	p.V2903F	SACS_ENST00000402364.1_Missense_Mutation_p.V2153F|SACS_ENST00000382292.3_Missense_Mutation_p.V2903F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2903					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGAACACCAACTCCATTATCA	0.418													22	41					0.000295444	0.00042401	1	0	A	23909308	C	A	23909308	3	1	106	1	0	0	0	0	1	0	0	0	13889	565	20	4	5036	4	SACS	13	23909308	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08		23909308	91260570	254	20394											
NBEA	26960	broad.mit.edu	37	chr13	35735894	35735894	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccttctttaggctgtgcAgggtcggtctatcacccaac	6	14	9	12	1	3	0	1	0	2	0	5	0	4	0	2	3	2	2	2	3	3	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:35735894A>T	ENST00000540320.1	+	23	4403	c.3869A>T	c.(3868-3870)cAg>cTg	p.Q1290L	NBEA_ENST00000400445.3_Missense_Mutation_p.Q1290L|NBEA_ENST00000379939.2_Missense_Mutation_p.Q1290L|NBEA_ENST00000310336.4_Missense_Mutation_p.Q1290L			Q8NFP9	NBEA_HUMAN	neurobeachin	1290						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGGCTGTGCAGGGTCGGTCT	0.413													6	19					0	0	0	0	T	35735894	A	T	35735894	3	4	106	1	0	0	0	0	1	0	0	0	10257	188	7	5	3959	5	NBEA	13	35735894	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	11826586	35735894	79433984	255	20395											
OLFM4	10562	broad.mit.edu	37	chr13	53624258	53624258	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggcgccattgaatacAgatgggagactgttggagta	10	10	16	5	1	0	3	0	1	0	2	0	5	0	4	1	4	1	2	1	4	3	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:53624258A>T	ENST00000219022.2	+	5	963	c.885A>T	c.(883-885)acA>acT	p.T295T		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	295	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CATTGAATACAGATGGGAGAC	0.443													40	65					0	0	0	0	T	53624258	A	T	53624258	2	4	106	1	0	0	0	0	0	0	0	1	10926	175	7	5		5	OLFM4	13	53624258	Silent	SNP	A	TCGA-CN-6992-01A-11D-1912-08	17888364	53624258	61545620	256	20396											
TBC1D4	9882	broad.mit.edu	37	chr13	75936702	75936702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcatcctctttcatggcCgctttagataattgccttat	7	17	7	10	1	2	1	1	0	1	1	3	1	3	1	3	2	1	2	3	2	3	7			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:75936702C>T	ENST00000377636.3	-	2	886	c.540G>A	c.(538-540)gcG>gcA	p.A180A	TBC1D4_ENST00000431480.2_Silent_p.A180A|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.A180A	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	180	PID 1.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTTTCATGGCCGCTTTAGATA	0.413													69	151					0	0	0	0	T	75936702	C	T	75936702	2	4	106	1	0	0	0	0	0	0	0	1	15716	639	23	1		1	TBC1D4	13	75936702	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	22312444	75936702	39233176	257	20397											
IPO5	3843	broad.mit.edu	37	chr13	98642692	98642692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctcttgattttagatcagGacgttatctgctagagctac	9	15	8	9	1	3	3	1	1	2	2	4	4	4	4	1	1	3	3	1	1	4	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:98642692G>A	ENST00000261574.5	+	9	804	c.624G>A	c.(622-624)agG>agA	p.R208R	IPO5_ENST00000539640.1_Intron|IPO5_ENST00000490680.1_Silent_p.R190R	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	190					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTTAGATCAGGACGTTATCTG	0.343													21	49					0	0	0	0	A	98642692	G	A	98642692	2	1	106	1	0	0	0	0	0	0	0	1	7849	1165	41	2		2	IPO5	13	98642692	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	22705990	98642692	16527186	258	20398											
RNF113B	140432	broad.mit.edu	37	chr13	98828638	98828638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagcgcggggtggcccGgaagtgctccagcgcgcagc	6	4	18	13	5	0	0	0	0	0	0	1	1	1	1	2	4	5	4	2	4	2	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:98828638G>A	ENST00000267291.6	-	1	881	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	285							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GGGGTGGCCCGGAAGTGCTCC	0.557													18	85					0	0	0	0	A	98828638	G	A	98828638	3	1	106	1	0	0	0	0	1	0	0	0	13513	1115	39	1	123	1	RNF113B	13	98828638	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	185946	98828638	16341240	259	20399											
NALCN	259232	broad.mit.edu	37	chr13	101762992	101762992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagtcaaagtttcaagaGattttcccctgctgatcctc	9	14	7	11	0	2	3	2	2	0	1	5	4	4	3	3	0	1	2	3	0	2	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:101762992G>T	ENST00000251127.6	-	20	2423	c.2342C>A	c.(2341-2343)tCt>tAt	p.S781Y		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	781						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.S781Y(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTTTCAAGAGATTTTCCCCT	0.383													23	64					6.12954e-19	1.0966e-18	1	0	T	101762992	G	T	101762992	3	4	106	1	0	0	0	0	1	0	0	0	10218	942	33	2	2974	2	NALCN	13	101762992	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	2934354	101762992	13406886	260	20400											
MYO16	23026	broad.mit.edu	37	chr13	109379876	109379876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatgaagacttctggacgcCcatgcacattgcctgtgcct	8	10	11	12	1	1	2	0	1	1	1	1	4	1	4	3	2	3	1	3	2	1	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:109379876C>A	ENST00000356711.2	+	4	512	c.386C>A	c.(385-387)cCc>cAc	p.P129H	MYO16_ENST00000357550.2_Missense_Mutation_p.P129H|MYO16_ENST00000251041.5_Missense_Mutation_p.P129H	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	129					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCTGGACGCCCATGCACATT	0.423													28	46					4.87955e-14	8.10776e-14	1	0	A	109379876	C	A	109379876	3	1	106	1	0	0	0	0	1	0	0	0	10134	623	22	4	396	4	MYO16	13	109379876	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	7616884	109379876	5790002	261	20401											
MYH6	4624	broad.mit.edu	37	chr14	23870013	23870013	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatgcgcgtcaccatccAgttgaacatcttctcataca	10	12	7	12	2	3	2	2	2	2	0	5	2	4	2	2	0	3	2	2	0	2	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:23870013A>T	ENST00000405093.3	-	13	1385	c.1315T>A	c.(1315-1317)Tgg>Agg	p.W439R	MYH6_ENST00000356287.3_Missense_Mutation_p.W439R	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	439	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTCACCATCCAGTTGAACATC	0.567													34	54					0	0	0	0	T	23870013	A	T	23870013	3	4	106	1	0	0	0	0	1	0	0	0	10108	188	7	5	4612	5	MYH6	14	23870013	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08		23870013	83479527	262	20402											
NYNRIN	57523	broad.mit.edu	37	chr14	24877130	24877130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaggttcgctacccacCgatcctgcactgtgccttcc	8	9	9	15	2	0	1	0	0	0	1	3	3	2	1	5	1	3	3	5	1	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:24877130C>T	ENST00000382554.3	+	3	572	c.254C>T	c.(253-255)cCg>cTg	p.P85L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	85					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CGCTACCCACCGATCCTGCAC	0.632													22	92					0	0	0	0	T	24877130	C	T	24877130	3	4	106	1	0	0	0	0	1	0	0	0	10867	652	23	1	260	1	NYNRIN	14	24877130	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1007117	24877130	82472410	263	20403											
NAA30	122830	broad.mit.edu	37	chr14	57866573	57866573	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggttaagaaagctatatAtgccatggttgagggagact	12	12	12	5	0	0	3	0	1	0	2	0	4	0	3	1	3	2	3	1	3	5	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:57866573A>G	ENST00000556492.1	+	4	1077	c.923A>G	c.(922-924)tAt>tGt	p.Y308C	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Missense_Mutation_p.Y50C	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	308	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						AAAGCTATATATGCCATGGTT	0.264													59	57					0	0	0	0	G	57866573	A	G	57866573	3	3	106	1	0	0	0	0	1	0	0	0	10192	449	16	5	933	5	NAA30	14	57866573	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	32989443	57866573	49482967	264	20404											
SLC38A6	145389	broad.mit.edu	37	chr14	61519120	61519120	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaattttagtttagcactCatcatttttgattggattaa	11	18	8	4	0	2	1	2	1	0	0	2	3	2	3	0	2	1	2	0	2	4	8			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:61519120C>G	ENST00000267488.4	+	16	1460	c.1344C>G	c.(1342-1344)ctC>ctG	p.L448L	SLC38A6_ENST00000354886.2_Intron|SLC38A6_ENST00000456840.2_Intron	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	448					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GTTTAGCACTCATCATTTTTG	0.289													4	9					0	0	0	0	G	61519120	C	G	61519120	2	3	106	1	0	0	0	0	0	0	0	1	14696	813	29	2		2	SLC38A6	14	61519120	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	3652547	61519120	45830420	265	20405											
NRXN3	9369	broad.mit.edu	37	chr14	79933568	79933568	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgcttttgcagctggCgctacgtacatctttgggaa	6	14	10	11	2	1	0	0	0	1	0	2	1	2	1	1	2	5	5	1	2	3	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:79933568C>T	ENST00000281127.7	+	2	1131	c.252C>T	c.(250-252)ggC>ggT	p.G84G	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Silent_p.G84G|NRXN3_ENST00000335750.5_Silent_p.G716G|NRXN3_ENST00000554719.1_Silent_p.G716G|NRXN3_ENST00000428277.2_Silent_p.G84G	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	84					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)		TTGCAGCTGGCGCTACGTACA	0.557													8	27					0	0	0	0	T	79933568	C	T	79933568	2	4	106	1	0	0	0	0	0	0	0	1	10738	755	27	1		1	NRXN3	14	79933568	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	18414448	79933568	27415972	266	20406											
NDN	4692	broad.mit.edu	37	chr15	23931618	23931618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggctccacgtatgggacGcgctggtacttcaggtaatt	7	10	14	10	4	1	0	1	0	0	0	2	1	2	1	1	5	1	5	1	5	3	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:23931618G>A	ENST00000331837.4	-	1	832	c.747C>T	c.(745-747)cgC>cgT	p.R249R		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	249	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGTATGGGACGCGCTGGTACT	0.587									Prader-Willi syndrome				20	21					0	0	0	0	A	23931618	G	A	23931618	2	1	106	1	0	0	0	0	0	0	0	1	10317	1074	38	1		1	NDN	15	23931618	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08		23931618	78599774	267	20407											
SNRPN	6638	broad.mit.edu	37	chr15	25213119	25213119	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttctcagcagcagcaagtaCctgtggtggatttccaggct	8	11	12	10	0	1	0	1	0	1	0	3	1	2	1	2	3	4	6	2	3	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:25213119C>A	ENST00000554227.2	+	0	376				SNRPN_ENST00000400100.1_De_novo_Start_OutOfFrame|SNRPN_ENST00000553597.1_3'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.P51T|SNRPN_ENST00000400097.1_De_novo_Start_OutOfFrame|SNRPN_ENST00000346403.6_De_novo_Start_InFrame|SNRPN_ENST00000577565.1_De_novo_Start_InFrame|SNRPN_ENST00000390687.4_De_novo_Start_OutOfFrame|SNURF_ENST00000338094.6_Missense_Mutation_p.P51T|SNRPN_ENST00000400098.1_De_novo_Start_OutOfFrame|SNURF_ENST00000577949.1_Missense_Mutation_p.P51T			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCAGCAAGTACCTGTGGTGGA	0.433									Prader-Willi syndrome				41	70					1.3203e-36	2.57361e-36	1	0	A	25213119	C	A	25213119	1	1	106	1	0	0	0	0	0	0	0	0	14958	507	18	4		4	SNRPN	15	25213119	Translation_Start_Site	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1281501	25213119	77318273	268	20408											
ATP10A	57194	broad.mit.edu	37	chr15	25940151	25940151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgatcacgaggctgggtctgCggccagaggcagtggacgtg	7	6	18	10	4	2	1	1	0	1	1	2	4	2	2	1	5	1	2	1	5	0	0	rs150976669		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:25940151C>T	ENST00000356865.6	-	14	3014	c.2903G>A	c.(2902-2904)cGc>cAc	p.R968H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	968					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTGGGTCTGCGGCCAGAGGC	0.602													10	66					0	0	0	0	T	25940151	C	T	25940151	3	4	106	1	0	0	0	0	1	0	0	0	1120	768	27	1	1628	1	ATP10A	15	25940151	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	727032	25940151	76591241	269	20409											
APBA2	321	broad.mit.edu	37	chr15	29406125	29406125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagcgagggggcgtccGtgtgggccaccgcatcatcg	5	7	17	12	5	1	1	1	1	0	0	3	2	2	1	3	3	2	2	3	3	0	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:29406125G>T	ENST00000558402.1	+	15	2683	c.2084G>T	c.(2083-2085)cGt>cTt	p.R695L	APBA2_ENST00000561069.1_Missense_Mutation_p.R695L|APBA2_ENST00000558330.1_Missense_Mutation_p.R683L|APBA2_ENST00000558259.1_Missense_Mutation_p.R695L|APBA2_ENST00000411764.1_Missense_Mutation_p.R683L			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	695	PDZ 2.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGGGGCGTCCGTGTGGGCCAC	0.627													19	31					2.54575e-18	4.50508e-18	1	0	T	29406125	G	T	29406125	3	4	106	1	0	0	0	0	1	0	0	0	758	1145	40	3	2126	3	APBA2	15	29406125	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	3465974	29406125	73125267	270	20410											
NDUFAF1	51103	broad.mit.edu	37	chr15	41688684	41688684	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggctcctgggcctcacctaCccttggaatcctggatatca	7	11	9	14	0	2	0	2	0	0	0	4	2	4	2	5	4	1	1	5	4	3	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:41688684C>A	ENST00000260361.4	-	2	955		c.e2+1			NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1						mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		GCCTCACCTACCCTTGGAATC	0.468													19	34					1.67942e-08	2.55037e-08	1	0	A	41688684	C	A	41688684	5	1	106	1	0	0	0	0	0	0	1	0	10344	521	18	4	425	4	NDUFAF1	15	41688684	Splice_Site	SNP	C	TCGA-CN-6992-01A-11D-1912-08	12282559	41688684	60842708	271	20411											
SPTBN5	51332	broad.mit.edu	37	chr15	42168381	42168381	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttcgtgccgcttgagTgtctgcaggatgtttctgcg	3	14	14	10	3	2	1	0	1	2	0	3	2	2	2	1	1	4	5	1	1	0	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:42168381T>A	ENST00000320955.6	-	21	4280	c.4053A>T	c.(4051-4053)acA>acT	p.T1351T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1351					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCGCTTGAGTGTCTGCAGGA	0.637													8	23					0	0	0	0	A	42168381	T	A	42168381	2	1	106	1	0	0	0	0	0	0	0	1	15212	1683	59	5		5	SPTBN5	15	42168381	Silent	SNP	T	TCGA-CN-6992-01A-11D-1912-08	479697	42168381	60363011	272	20412											
STRC	161497	broad.mit.edu	37	chr15	43910166	43910166	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagttggggtaggggggccCccaggaactaaggctcccag	8	5	17	11	1	0	0	0	0	0	0	1	2	1	1	3	7	1	3	3	7	3	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:43910166C>A	ENST00000450892.2	-	2	530	c.453G>T	c.(451-453)ggG>ggT	p.G151G	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	151					sensory perception of sound	cell surface		p.G151G(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TAGGGGGGCCCCCAGGAACTA	0.637													22	76					2.98393e-07	4.46905e-07	1	0	A	43910166	C	A	43910166	2	1	106	1	0	0	0	0	0	0	0	1	15418	610	22	4		4	STRC	15	43910166	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1741785	43910166	58621226	273	20413											
UNC13C	440279	broad.mit.edu	37	chr15	54306698	54306698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattatgcagatgcaacacCtctctggcactcacagagtg	11	9	8	13	0	2	2	1	0	1	2	3	2	2	2	2	1	3	3	2	1	2	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:54306698C>T	ENST00000545554.1	+	1	1598	c.1598C>T	c.(1597-1599)cCt>cTt	p.P533L	UNC13C_ENST00000537900.1_Missense_Mutation_p.P533L|UNC13C_ENST00000260323.11_Missense_Mutation_p.P533L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	533					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GATGCAACACCTCTCTGGCAC	0.358													20	30					0	0	0	0	T	54306698	C	T	54306698	3	4	106	1	0	0	0	0	1	0	0	0	17082	681	24	4	1600	4	UNC13C	15	54306698	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	10396532	54306698	48224694	274	20414											
TCF12	6938	broad.mit.edu	37	chr15	57574756	57574756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacccatcctgggcttagtGaaactaccaaccctatgggt	11	9	9	12	0	0	1	0	1	0	0	1	2	1	1	4	2	4	1	4	2	6	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:57574756G>A	ENST00000267811.5	+	19	2324	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	TCF12_ENST00000333725.5_Missense_Mutation_p.E698K|TCF12_ENST00000343827.3_Missense_Mutation_p.E504K|TCF12_ENST00000438423.2_Missense_Mutation_p.E698K|TCF12_ENST00000557843.1_Missense_Mutation_p.E674K|TCF12_ENST00000559703.1_Missense_Mutation_p.E331K|TCF12_ENST00000537840.1_Missense_Mutation_p.E438K|TCF12_ENST00000543579.1_Missense_Mutation_p.E528K|TCF12_ENST00000559710.1_Missense_Mutation_p.E308K|TCF12_ENST00000452095.2_Missense_Mutation_p.E694K	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	674					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TGGGCTTAGTGAAACTACCAA	0.468			T	TEC	extraskeletal myxoid chondrosarcoma								25	124					0	0	0	0	A	57574756	G	A	57574756	3	1	106	1	0	0	0	0	1	0	0	0	15781	1291	45	2	2239	2	TCF12	15	57574756	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	3268058	57574756	44956636	275	20415											
CILP	8483	broad.mit.edu	37	chr15	65489842	65489842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggtcatcttcgttgaaggGgactgtgttgtagtcatatc	8	14	13	6	1	3	1	2	1	1	0	5	2	3	2	0	3	0	3	0	3	3	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:65489842G>A	ENST00000261883.4	-	9	2948	c.2782C>T	c.(2782-2784)Ccc>Tcc	p.P928S		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	928					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.P928T(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCGTTGAAGGGGACTGTGTTG	0.522													35	64					0	0	0	0	A	65489842	G	A	65489842	3	1	106	1	0	0	0	0	1	0	0	0	3458	1232	43	4	776	4	CILP	15	65489842	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	7915086	65489842	37041550	276	20416											
HCN4	10021	broad.mit.edu	37	chr15	73621967	73621967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactggatgagggcagtggCgtggccaatgaacatggcgt	9	7	18	7	2	0	2	0	2	0	0	0	4	0	4	1	6	1	1	1	6	2	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:73621967C>T	ENST00000261917.3	-	4	2530	c.1537G>A	c.(1537-1539)Gcc>Acc	p.A513T		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	513					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGGGCAGTGGCGTGGCCAATG	0.652													12	61					0	0	0	0	T	73621967	C	T	73621967	3	4	106	1	0	0	0	0	1	0	0	0	7049	768	27	1	2094	1	HCN4	15	73621967	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	8132125	73621967	28909425	277	20417											
C15orf59	388135	broad.mit.edu	37	chr15	74032915	74032915	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgctgctcacagtggcCgtggtccagtcgtccggctc	4	9	15	13	3	1	0	1	0	0	0	5	1	3	0	3	4	2	3	3	4	0	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:74032915C>T	ENST00000569673.1	-	3	1429	c.225G>A	c.(223-225)acG>acA	p.T75T	C15orf59_ENST00000379822.4_Silent_p.T75T|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	75										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCACAGTGGCCGTGGTCCAGT	0.592													88	129					0	0	0	0	T	74032915	C	T	74032915	2	4	106	1	0	0	0	0	0	0	0	1	1819	639	23	1		1	C15orf59	15	74032915	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	410948	74032915	28498477	278	20418											
SCAMP2	10066	broad.mit.edu	37	chr15	75142867	75142867	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactcacctaaaggccttaTagatgggtcggtaccaacaa	13	9	8	11	1	2	1	2	0	0	1	3	1	2	1	3	3	2	1	3	3	7	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:75142867T>C	ENST00000268099.9	-	6	729	c.620A>G	c.(619-621)tAt>tGt	p.Y207C		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	207	Interaction with SLC9A7.				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						AAAGGCCTTATAGATGGGTCG	0.562													4	157					0	0	0	0	C	75142867	T	C	75142867	3	2	106	1	0	0	0	0	1	0	0	0	13957	1406	49	5	385	5	SCAMP2	15	75142867	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	1109952	75142867	27388525	279	20419											
HOMER2	9455	broad.mit.edu	37	chr15	83527813	83527813	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaatcttcagcttgtcattCtcagacttcaggtgtgtgtt	7	16	9	9	0	5	1	4	0	2	1	6	1	5	1	0	1	1	3	0	1	1	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:83527813C>G	ENST00000304231.8	-	5	687	c.495G>C	c.(493-495)gaG>gaC	p.E165D	HOMER2_ENST00000450735.2_Missense_Mutation_p.E154D|HOMER2_ENST00000426485.1_Missense_Mutation_p.E165D|HOMER2_ENST00000399166.2_Missense_Mutation_p.E154D	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	165					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						GCTTGTCATTCTCAGACTTCA	0.507													5	196					0	0	0	0	G	83527813	C	G	83527813	3	3	106	1	0	0	0	0	1	0	0	0	7329	912	32	2	589	2	HOMER2	15	83527813	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	8384946	83527813	19003579	280	20420											
AGBL1	123624	broad.mit.edu	37	chr15	86838537	86838537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcaaagaggtctacttcCggcaagatgttctctgccag	10	10	9	12	1	3	2	1	0	2	2	5	2	4	2	3	2	2	2	3	2	3	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:86838537C>T	ENST00000441037.2	+	16	2229	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	AGBL1_ENST00000421325.2_Missense_Mutation_p.R712W|AGBL1_ENST00000389298.3_Missense_Mutation_p.R443W	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	712					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.R712R(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGTCTACTTCCGGCAAGATGT	0.468													11	86					0	0	0	0	T	86838537	C	T	86838537	3	4	106	1	0	0	0	0	1	0	0	0	375	643	23	1	2192	1	AGBL1	15	86838537	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	3310724	86838537	15692855	281	20421											
CRTC3	64784	broad.mit.edu	37	chr15	91162992	91162992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcagtccctgtcaggacGccctcgatcctgtgatgttg	6	12	11	12	2	2	1	2	1	0	0	5	4	4	2	3	1	0	1	3	1	0	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:91162992G>A	ENST00000420329.2	+	9	866	c.719G>A	c.(718-720)cGc>cAc	p.R240H	CRTC3_ENST00000268184.6_Missense_Mutation_p.R240H	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	240					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTGTCAGGACGCCCTCGATCC	0.443			T	MAML2	salivary gland mucoepidermoid								13	123					0	0	0	0	A	91162992	G	A	91162992	3	1	106	1	0	0	0	0	1	0	0	0	3931	1087	38	1	753	1	CRTC3	15	91162992	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	4324455	91162992	11368400	282	20422											
IGF1R	3480	broad.mit.edu	37	chr15	99434760	99434760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggaccgtgacttctgcGccaacatcctcagcgccgag	7	8	12	14	4	2	1	1	1	1	0	3	3	3	2	4	1	3	0	4	1	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:99434760G>A	ENST00000268035.6	+	3	1458	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.A283T|IGF1R_ENST00000560432.1_3'UTR	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	283					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TGACTTCTGCGCCAACATCCT	0.637													11	70					0	0	0	0	A	99434760	G	A	99434760	3	1	106	1	0	0	0	0	1	0	0	0	7624	1087	38	1	857	1	IGF1R	15	99434760	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	8271768	99434760	3096632	283	20423											
ZNF646	9726	broad.mit.edu	37	chr16	31088376	31088376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtacaaatgtagtcagtGtggcaagacctacaagcacg	13	7	12	9	2	1	1	1	0	0	1	1	1	1	1	1	2	3	4	1	2	6	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:31088376G>A	ENST00000394979.2	+	1	1154	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	ZNF646_ENST00000300850.5_Missense_Mutation_p.C244Y			O15015	ZN646_HUMAN	zinc finger protein 646	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGTAGTCAGTGTGGCAAGACC	0.582													6	46					0	0	0	0	A	31088376	G	A	31088376	3	1	106	1	0	0	0	0	1	0	0	0	18157	1377	48	4	733	4	ZNF646	16	31088376	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08		31088376	59266377	284	20424											
ITGAM	3684	broad.mit.edu	37	chr16	31308840	31308840	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtctctttcagatcggCgcctacttcggggcctccct	3	13	9	16	3	2	1	1	0	1	1	7	1	4	1	4	3	1	0	4	3	1	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:31308840C>T	ENST00000544665.3	+	13	1433	c.1362C>T	c.(1360-1362)ggC>ggT	p.G454G	ITGAM_ENST00000287497.8_Silent_p.G454G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	454					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTCAGATCGGCGCCTACTTCG	0.582													27	168					0	0	0	0	T	31308840	C	T	31308840	2	4	106	1	0	0	0	0	0	0	0	1	7940	755	27	1		1	ITGAM	16	31308840	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	220464	31308840	59045913	285	20425											
LONP2	83752	broad.mit.edu	37	chr16	48295405	48295405	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagatgaagatgaagatgAagataatgatgacattgtca	19	9	11	2	0	1	10	1	5	0	5	1	10	1	10	0	0	0	0	0	0	5	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:48295405A>T	ENST00000285737.4	+	5	887	c.794A>T	c.(793-795)gAa>gTa	p.E265V	LONP2_ENST00000535754.1_Missense_Mutation_p.E221V	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	265					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GATGAAGATGAAGATAATGAT	0.353													34	91					0	0	0	0	T	48295405	A	T	48295405	3	4	106	1	0	0	0	0	1	0	0	0	8957	246	9	5	812	5	LONP2	16	48295405	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	16986565	48295405	42059348	286	20426											
FAM65A	79567	broad.mit.edu	37	chr16	67574374	67574374	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactcagggctggctggcttCgccaggctgtgtgtaggcga	6	9	16	10	2	1	0	1	0	0	0	2	1	1	0	1	5	1	5	1	5	2	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:67574374C>T	ENST00000540839.3	+	10	925	c.705C>T	c.(703-705)ttC>ttT	p.F235F	FAM65A_ENST00000428437.2_Silent_p.F229F|FAM65A_ENST00000422602.2_Silent_p.F235F|FAM65A_ENST00000379312.3_Silent_p.F219F|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000042381.4_Silent_p.F215F			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	219						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TGGCTGGCTTCGCCAGGCTGT	0.592													16	60					0	0	0	0	T	67574374	C	T	67574374	2	4	106	1	0	0	0	0	0	0	0	1	5645	883	31	1		1	FAM65A	16	67574374	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	19278969	67574374	22780379	287	20427											
LDHD	197257	broad.mit.edu	37	chr16	75146544	75146544	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccctgcccagttcctcGgcgtcatcagggttgaccag	6	10	11	14	2	2	2	2	2	0	0	4	2	3	2	4	2	1	2	4	2	0	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:75146544G>C	ENST00000300051.4	-	10	1360	c.1314C>G	c.(1312-1314)gcC>gcG	p.A438A	LDHD_ENST00000450168.2_Silent_p.A415A	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	438							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CCAGTTCCTCGGCGTCATCAG	0.607													13	39					0	0	0	0	C	75146544	G	C	75146544	2	2	106	1	0	0	0	0	0	0	0	1	8756	1103	39	3		3	LDHD	16	75146544	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	7572170	75146544	15208209	288	20428											
ZZEF1	23140	broad.mit.edu	37	chr17	3966057	3966057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtacttacttggtaaaatCtttctgacaggtcagaagtt	11	16	8	6	0	3	2	1	1	2	1	3	2	3	2	0	2	2	3	0	2	5	7			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:3966057C>T	ENST00000381638.2	-	30	4997	c.4873G>A	c.(4873-4875)Gat>Aat	p.D1625N		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1625							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTGGTAAAATCTTTCTGACAG	0.413													4	7					0	0	0	0	T	3966057	C	T	3966057	3	4	106	1	0	0	0	0	1	0	0	0	18346	913	32	2	4116	2	ZZEF1	17	3966057	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08		3966057	77229153	289	20429											
TNK1	8711	broad.mit.edu	37	chr17	7290420	7290420	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgccagccacccgtccAgtccacagaggcacccctgc	7	5	10	19	1	0	1	0	0	0	1	2	1	2	1	7	2	3	2	7	2	0	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7290420A>G	ENST00000570896.1	+	10	1790	c.1344A>G	c.(1342-1344)ccA>ccG	p.P448P	TNK1_ENST00000576812.1_Silent_p.P453P|TNK1_ENST00000311668.2_Silent_p.P448P			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	453					protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CCACCCGTCCAGTCCACAGAG	0.627													8	21					0	0	0	0	G	7290420	A	G	7290420	2	3	106	1	0	0	0	0	0	0	0	1	16411	175	7	5		5	TNK1	17	7290420	Silent	SNP	A	TCGA-CN-6992-01A-11D-1912-08	3324363	7290420	73904790	290	20430											
TP53	7157	broad.mit.edu	37	chr17	7576853	7576853	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcccaagacttagtacCtgaagggtgaaatattctcc	12	10	10	9	0	1	3	0	2	1	1	3	4	2	3	3	2	1	1	3	2	6	4	rs11575996		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7576853C>A	ENST00000420246.2	-	9	1125	c.993_splice	c.e9+1	p.Q331_splice	TP53_ENST00000445888.2_Splice_Site_p.Q331_splice|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site_p.Q331_splice|TP53_ENST00000269305.4_Splice_Site_p.Q331_splice|TP53_ENST00000455263.2_Splice_Site_p.Q331_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACTTAGTACCTGAAGGGTGA	0.453		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	42					3.62473e-10	5.759e-10	1	0	A	7576853	C	A	7576853	5	1	106	1	0	0	0	0	0	0	1	0	16476	695	24	4	289	4	TP53	17	7576853	Splice_Site	SNP	C	TCGA-CN-6992-01A-11D-1912-08	286433	7576853	73618357	291	20431											
TP53	7157	broad.mit.edu	37	chr17	7577535	7577535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatggtgaggatgggcCtccggttcatgccgcccatg	6	10	15	10	2	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	0	1	rs67185453		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7577535C>A	ENST00000420246.2	-	7	878	c.746G>T	c.(745-747)aGg>aTg	p.R249M	TP53_ENST00000445888.2_Missense_Mutation_p.R249M|TP53_ENST00000413465.2_Missense_Mutation_p.R249M|TP53_ENST00000359597.4_Missense_Mutation_p.R249M|TP53_ENST00000269305.4_Missense_Mutation_p.R249M|TP53_ENST00000455263.2_Missense_Mutation_p.R249M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249M(38)|p.R249K(20)|p.R249T(16)|p.0?(8)|p.?(5)|p.R249fs*96(4)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGATGGGCCTCCGGTTCAT	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	31					1.85244e-09	2.89389e-09	1	0	A	7577535	C	A	7577535	3	1	106	1	0	0	0	0	1	0	0	0	16476	681	24	4	544	4	TP53	17	7577535	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	682	7577535	73617675	292	20432											
DNAH2	146754	broad.mit.edu	37	chr17	7727960	7727960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctcatccatccttccGcctctggctcagctccatcc	5	11	6	19	1	3	0	2	0	1	0	9	1	9	1	7	2	1	2	7	2	0	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7727960G>A	ENST00000572933.1	+	77	13228	c.11768G>A	c.(11767-11769)cGc>cAc	p.R3923H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3923H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3923	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATCCTTCCGCCTCTGGCTC	0.552													10	78					0	0	0	0	A	7727960	G	A	7727960	3	1	106	1	0	0	0	0	1	0	0	0	4639	1087	38	1	12070	1	DNAH2	17	7727960	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	150425	7727960	73467250	293	20433											
GUCY2D	3000	broad.mit.edu	37	chr17	7918083	7918083	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacacagatgctgcctccGtgggtgccagtgggaagggg	7	8	16	10	1	0	1	0	0	0	1	1	2	1	2	3	4	4	1	3	4	2	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7918083G>T	ENST00000254854.4	+	13	2726		c.e13+1			NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)						intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TGCTGCCTCCGTGGGTGCCAG	0.627													9	17					3.09899e-07	4.63075e-07	1	0	T	7918083	G	T	7918083	5	4	106	1	0	0	0	0	0	0	1	0	6947	1159	40	3	2623	3	GUCY2D	17	7918083	Splice_Site	SNP	G	TCGA-CN-6992-01A-11D-1912-08	190123	7918083	73277127	294	20434											
DNAH9	1770	broad.mit.edu	37	chr17	11687739	11687739	+	Frame_Shift_Del	DEL	C	C	-																															gcgtccctgcagaaatccatCcccccactgatcgatctggc																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:11687739delC	ENST00000262442.3	+	41	8012	c.7944delC	c.(7942-7944)atfs	p.I2648fs	DNAH9_ENST00000454412.2_Frame_Shift_Del_p.I2648fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2648	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAAATCCATCCCCCCACTGA	0.532													64	118	---	---	---	---					-	11687739	C	-	11687739	7	5	106	1	0	1	0	1	0	0	0	0	4644	845	30	0	8106	0	DNAH9	17	11687739	Frame_Shift_Del	DEL	C	TCGA-CN-6992-01A-11D-1912-08	3769656	11687739	69507471	295	20435											
NCOR1	9611	broad.mit.edu	37	chr17	15942772	15942772	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtgatgggtccccttcCtctcttcgtgtctcaccact	4	14	9	14	1	2	2	1	2	2	0	7	2	4	2	4	2	0	0	4	2	0	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:15942772C>G	ENST00000268712.3	-	44	7187	c.6930G>C	c.(6928-6930)gaG>gaC	p.E2310D	NCOR1_ENST00000395857.3_Missense_Mutation_p.E894D|NCOR1_ENST00000395851.1_Missense_Mutation_p.E2207D	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2310	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGTCCCCTTCCTCTCTTCGTG	0.468													10	35					0	0	0	0	G	15942772	C	G	15942772	3	3	106	1	0	0	0	0	1	0	0	0	10305	680	24	4	404	4	NCOR1	17	15942772	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	4255033	15942772	65252438	296	20436											
ZNF624	57547	broad.mit.edu	37	chr17	16550702	16550702	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatctggctgggtaacttCagggctctgatgggatacag	8	12	13	8	0	4	1	2	1	2	0	4	2	4	2	0	4	2	3	0	4	2	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:16550702C>G	ENST00000311331.7	-	3	185	c.94G>C	c.(94-96)Gaa>Caa	p.E32Q		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGGGTAACTTCAGGGCTCTGA	0.428													37	50					0	0	0	0	G	16550702	C	G	16550702	3	3	106	1	0	0	0	0	1	0	0	0	18143	835	29	2	2519	2	ZNF624	17	16550702	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	607930	16550702	64644508	297	20437											
MED24	9862	broad.mit.edu	37	chr17	38189629	38189629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccacactgctcggcctGactccggagctgcgggttgc	4	8	15	14	3	0	1	0	1	0	0	2	2	1	2	3	4	5	3	3	4	0	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:38189629G>T	ENST00000394126.1	-	6	1133	c.715C>A	c.(715-717)Cag>Aag	p.Q239K	MED24_ENST00000394128.2_Missense_Mutation_p.Q214K|MED24_ENST00000394127.2_Missense_Mutation_p.Q201K|MED24_ENST00000356271.3_Missense_Mutation_p.Q201K|MED24_ENST00000501516.3_Missense_Mutation_p.Q233K			O75448	MED24_HUMAN	mediator complex subunit 24	214					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGCTCGGCCTGACTCCGGAGC	0.592													10	3					9.70103e-10	1.52278e-09	1	0	T	38189629	G	T	38189629	3	4	106	1	0	0	0	0	1	0	0	0	9511	1299	45	2	2409	2	MED24	17	38189629	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	21638927	38189629	43005581	298	20438											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39262084	39262084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgtgctgccagcccaaCtgctgccgccccagctgcag	5	8	11	17	1	1	0	0	0	1	0	1	0	1	0	5	0	8	4	5	0	1	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:39262084C>G	ENST00000391415.1	+	1	501	c.444C>G	c.(442-444)aaC>aaG	p.N148K		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	148	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gccagcccaactgctgccgcc	0.672													9	13					0	0	0	0	G	39262084	C	G	39262084	3	3	106	1	0	0	0	0	1	0	0	0	8610	564	20	4	446	4	KRTAP4-9	17	39262084	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1072455	39262084	41933126	299	20439											
KRT15	3866	broad.mit.edu	37	chr17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgttgatgtcagcctcaaCgccctggcgcagggccagct	6	7	13	15	3	2	1	2	1	0	0	2	1	2	1	4	2	3	3	4	2	1	1	rs138271368		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													19	65					0	0	0	0	T	39673185	C	T	39673185	3	4	106	1	0	0	0	0	1	0	0	0	8504	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	411101	39673185	41522025	300	20440											
HSD17B1	3292	broad.mit.edu	37	chr17	40705593	40705593	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagacatgaagaggcgcggTtcgggacgcgtgttggtgac	8	7	17	9	5	0	4	0	2	0	2	1	5	0	5	1	4	0	2	1	4	1	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:40705593T>C	ENST00000585807.1	+	3	4122	c.402T>C	c.(400-402)ggT>ggC	p.G134G	RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Silent_p.G134G|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	134					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	AGAGGCGCGGTTCGGGACGCG	0.637													21	42					0	0	0	0	C	40705593	T	C	40705593	2	2	106	1	0	0	0	0	0	0	0	1	7428	1712	60	5		5	HSD17B1	17	40705593	Silent	SNP	T	TCGA-CN-6992-01A-11D-1912-08	1032408	40705593	40489617	301	20441											
CSHL1	1444	broad.mit.edu	37	chr17	61987419	61987419	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaataaggtgagttctcttGggtcagcgcctgactgctga	9	11	13	8	1	2	4	1	3	1	1	3	4	2	4	1	2	2	2	1	2	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:61987419G>A	ENST00000450719.3	-	3	529	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Nonsense_Mutation_p.Q109*|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GAGTTCTCTTGGGTCAGCGCC	0.557													23	53					0	0	0	0	A	61987419	G	A	61987419	4	1	106	1	0	0	0	0	0	1	0	0	3974	1363	47	4		4	CSHL1	17	61987419	Nonsense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	21281826	61987419	19207791	302	20442											
SCN4A	6329	broad.mit.edu	37	chr17	62021165	62021165	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcttcttcatggcgttatAgtatttcttctgttcctccg	6	18	7	10	2	4	0	1	0	3	0	6	0	6	0	2	1	1	4	2	1	4	8			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:62021165A>T	ENST00000435607.1	-	22	4034	c.3958T>A	c.(3958-3960)Tat>Aat	p.Y1320N	SCN4A_ENST00000578147.1_Missense_Mutation_p.Y1320N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1320					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATGGCGTTATAGTATTTCTTC	0.547													13	19					0	0	0	0	T	62021165	A	T	62021165	3	4	106	1	0	0	0	0	1	0	0	0	14007	420	15	5	1564	5	SCN4A	17	62021165	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	33746	62021165	19174045	303	20443											
ERN1	2081	broad.mit.edu	37	chr17	62135335	62135335	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcgttttctgaagtctGgtcaaccaggttgataacct	9	13	11	8	1	3	2	1	2	2	0	3	2	3	2	2	3	3	2	2	3	3	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:62135335G>C	ENST00000433197.2	-	12	1320	c.1225C>G	c.(1225-1227)Cag>Gag	p.Q409E		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	409					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCTGAAGTCTGGTCAACCAGG	0.552													5	6					0	0	0	0	C	62135335	G	C	62135335	3	2	106	1	0	0	0	0	1	0	0	0	5275	1357	47	4	1752	4	ERN1	17	62135335	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	114170	62135335	19059875	304	20444											
NUP85	79902	broad.mit.edu	37	chr17	73214330	73214330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtccggctccatgtgtgcGaggtggacagtttgtcggca	5	10	17	9	3	0	0	0	0	0	0	3	2	2	1	2	5	1	3	2	5	0	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:73214330G>A	ENST00000245544.4	+	7	597	c.526G>A	c.(526-528)Gag>Aag	p.E176K	NUP85_ENST00000579298.1_Missense_Mutation_p.E176K|NUP85_ENST00000541827.1_Missense_Mutation_p.E130K|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579324.1_Missense_Mutation_p.E64K|NUP85_ENST00000447371.2_Intron	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	176					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CCATGTGTGCGAGGTGGACAG	0.572													7	64					0	0	0	0	A	73214330	G	A	73214330	3	1	106	1	0	0	0	0	1	0	0	0	10841	1059	37	1	552	1	NUP85	17	73214330	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	11078995	73214330	7980880	305	20445											
CANT1	124583	broad.mit.edu	37	chr17	76993210	76993210	+	Missense_Mutation	SNP	C	C	A																															acaatcaggtcggatagctcCatgcctctccccttctccgc																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:76993210C>A	ENST00000302345.2	-	2	989	c.495G>T	c.(493-495)atG>atT	p.M165I	CANT1_ENST00000591773.1_Missense_Mutation_p.M165I|CANT1_ENST00000392446.5_Missense_Mutation_p.M165I	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	165					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CGGATAGCTCCATGCCTCTCC	0.597			T	ETV4	prostate								39	97					1.36161e-19	2.4767e-19	1	0	A	76993210	C	A	76993210	3	1	106	1	0	0	0	0	1	0	0	0	2642	594	21	4	722	4	CANT1	17	76993210	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	3778880	76993210	4202000	306	20446	171	2									
CANT1	124583	broad.mit.edu	37	chr17	76993211	76993211	+	Missense_Mutation	SNP	A	A	T																															caatcaggtcggatagctccAtgcctctccccttctccgcc																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:76993211A>T	ENST00000302345.2	-	2	988	c.494T>A	c.(493-495)aTg>aAg	p.M165K	CANT1_ENST00000591773.1_Missense_Mutation_p.M165K|CANT1_ENST00000392446.5_Missense_Mutation_p.M165K	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	165					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGATAGCTCCATGCCTCTCCC	0.597			T	ETV4	prostate								38	98					0	0	0	0	T	76993211	A	T	76993211	3	4	106	1	0	0	0	0	1	0	0	0	2642	217	8	5	723	5	CANT1	17	76993211	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	1	76993211	4201999	307	20447	171	2									
EPB41L3	23136	broad.mit.edu	37	chr18	5416002	5416002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcacaagggacggtgagcGgatcgggaggtaatgctgca	10	5	19	7	3	0	1	0	1	0	0	1	4	0	4	0	6	3	4	0	6	2	1	rs150101312		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:5416002G>A	ENST00000341928.2	-	13	2222	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R628C|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	628	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GACGGTGAGCGGATCGGGAGG	0.537													10	89					0	0	0	0	A	5416002	G	A	5416002	3	1	106	1	0	0	0	0	1	0	0	0	5192	1116	39	1	1421	1	EPB41L3	18	5416002	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08		5416002	72661246	308	20448											
MC5R	4161	broad.mit.edu	37	chr18	13826521	13826521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtttaccgtgtgctgggccCcgttcttccttcatctcact	3	16	8	14	2	3	0	2	0	2	0	5	0	4	0	4	1	2	3	4	1	1	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:13826521C>T	ENST00000324750.3	+	1	979	c.757C>T	c.(757-759)Ccg>Tcg	p.P253S		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	253					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GTGCTGGGCCCCGTTCTTCCT	0.577													50	64					0	0	0	0	T	13826521	C	T	13826521	3	4	106	1	0	0	0	0	1	0	0	0	9436	623	22	4	759	4	MC5R	18	13826521	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	8410519	13826521	64250727	309	20449											
CDH2	1000	broad.mit.edu	37	chr18	25572629	25572629	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacacttactttgaccacgGtgactaacccgtcgttgctg	9	11	9	12	3	0	2	0	2	0	0	1	3	0	2	2	1	4	2	2	1	3	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:25572629G>C	ENST00000269141.3	-	9	1757	c.1334C>G	c.(1333-1335)aCc>aGc	p.T445S	CDH2_ENST00000399380.3_Missense_Mutation_p.T414S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	445	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTGACCACGGTGACTAACCC	0.522													26	57					0	0	0	0	C	25572629	G	C	25572629	3	2	106	1	0	0	0	0	1	0	0	0	3134	1261	44	4	1418	4	CDH2	18	25572629	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	11746108	25572629	52504619	310	20450											
SETBP1	26040	broad.mit.edu	37	chr18	42531907	42531907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggagacgatccccagcGacagcggcattgggacagac	11	4	15	11	3	0	3	0	1	0	2	1	7	1	4	2	3	2	1	2	3	0	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:42531907G>T	ENST00000282030.5	+	4	2898	c.2602G>T	c.(2602-2604)Gac>Tac	p.D868Y		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	868			D -> A (in SGMFS).|D -> N (in SGMFS).			nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATCCCCAGCGACAGCGGCAT	0.552									Schinzel-Giedion syndrome				39	22					7.53189e-24	1.40524e-23	1	0	T	42531907	G	T	42531907	3	4	106	1	0	0	0	0	1	0	0	0	14216	1058	37	3	2805	3	SETBP1	18	42531907	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	16959278	42531907	35545341	311	20451											
ZNF236	7776	broad.mit.edu	37	chr18	74625839	74625839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggggtcctcaagtcccacGagaagacacacacaggtcac	12	5	10	14	1	2	2	2	0	0	2	4	3	4	2	2	3	0	0	2	3	2	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:74625839G>A	ENST00000253159.8	+	18	3238	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E1016K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1014					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAAGTCCCACGAGAAGACACA	0.483													21	26					0	0	0	0	A	74625839	G	A	74625839	3	1	106	1	0	0	0	0	1	0	0	0	17884	1059	37	1	3110	1	ZNF236	18	74625839	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	32093932	74625839	3451409	312	20452											
DOT1L	84444	broad.mit.edu	37	chr19	2216357	2216357	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgtgccgcctgacgaCgccctgtccctgcacctgcg	3	9	11	18	4	0	1	0	1	0	0	2	2	2	1	6	0	3	1	6	0	0	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:2216357C>T	ENST00000398665.3	+	20	2037	c.2001C>T	c.(1999-2001)gaC>gaT	p.D667D		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	667						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		CGCCTGACGACGCCCTGTCCC	0.657													17	28					0	0	0	0	T	2216357	C	T	2216357	2	4	106	1	0	0	0	0	0	0	0	1	4745	535	19	1		1	DOT1L	19	2216357	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08		2216357	56912626	313	20453											
TLE6	79816	broad.mit.edu	37	chr19	2993528	2993528	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcgggagccagcggcaCatggtggggcaaaaagacag	13	2	16	10	2	0	1	0	0	0	1	0	2	0	2	2	5	3	2	2	5	2	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:2993528C>T	ENST00000246112.4	+	15	1686	c.1485C>T	c.(1483-1485)caC>caT	p.H495H	TLE6_ENST00000452088.1_Silent_p.H372H	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	372					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		GCCAGCGGCACATGGTGGGGC	0.632													11	32					0	0	0	0	T	2993528	C	T	2993528	2	4	106	1	0	0	0	0	0	0	0	1	16036	477	17	4		4	TLE6	19	2993528	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	777171	2993528	56135455	314	20454											
ATCAY	85300	broad.mit.edu	37	chr19	3907911	3907911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacatgaaagtggtcaccCacggaggtgagacccgcccc	10	6	11	14	2	1	2	1	2	0	1	1	4	1	3	4	3	1	0	4	3	2	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:3907911C>A	ENST00000450849.2	+	5	1005	c.538C>A	c.(538-540)Cac>Aac	p.H180N	ATCAY_ENST00000600960.1_Missense_Mutation_p.H180N|ATCAY_ENST00000398448.3_Missense_Mutation_p.H186N|ATCAY_ENST00000301260.6_Missense_Mutation_p.H180N	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	180	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AGTGGTCACCCACGGAGGTGA	0.667													7	16					0.00448238	0.00629461	1	0	A	3907911	C	A	3907911	3	1	106	1	0	0	0	0	1	0	0	0	1081	594	21	4	552	4	ATCAY	19	3907911	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	914383	3907911	55221072	315	20455											
LONP1	9361	broad.mit.edu	37	chr19	5711885	5711885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctccatcgccagctccGccgggtgcctggcgctcagc	3	7	14	17	4	1	0	1	0	0	0	4	0	3	0	5	3	3	3	5	3	0	0	rs116591583	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:5711885G>A	ENST00000360614.3	-	4	924	c.767C>T	c.(766-768)gCg>gTg	p.A256V	LONP1_ENST00000540670.2_Missense_Mutation_p.A60V|LONP1_ENST00000585374.1_Missense_Mutation_p.A142V|LONP1_ENST00000593119.1_Missense_Mutation_p.A192V|LONP1_ENST00000590729.1_Missense_Mutation_p.A142V	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	256	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGCCAGCTCCGCCGGGTGCCT	0.667													18	43					0	0	0	0	A	5711885	G	A	5711885	3	1	106	1	0	0	0	0	1	0	0	0	8956	1087	38	1	2172	1	LONP1	19	5711885	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1803974	5711885	53417098	316	20456											
EMR1	2015	broad.mit.edu	37	chr19	6913740	6913740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccaaggaagagacgtcctCcctggccacagtcttcctgg	9	7	10	15	1	1	1	0	0	1	1	4	3	4	2	5	3	0	0	5	3	2	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:6913740C>T	ENST00000312053.4	+	11	1236	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	EMR1_ENST00000381404.4_Missense_Mutation_p.S348F|EMR1_ENST00000381407.5_Missense_Mutation_p.S259F|EMR1_ENST00000450315.3_Missense_Mutation_p.S223F|EMR1_ENST00000250572.8_Missense_Mutation_p.S400F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	400	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAGACGTCCTCCCTGGCCACA	0.463													51	74					0	0	0	0	T	6913740	C	T	6913740	3	4	106	1	0	0	0	0	1	0	0	0	5142	855	30	2	1241	2	EMR1	19	6913740	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1201855	6913740	52215243	317	20457											
PRAM1	84106	broad.mit.edu	37	chr19	8555792	8555792	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaacttcttccggaactcCctctcggccttctctgcctt	4	15	6	16	2	3	1	0	1	3	0	7	2	5	2	4	2	3	0	4	2	2	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:8555792C>T	ENST00000423345.4	-	6	2242	c.1722G>A	c.(1720-1722)agG>agA	p.R574R	PRAM1_ENST00000255612.3_Silent_p.R573R			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	622							lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TCCGGAACTCCCTCTCGGCCT	0.592													10	258					0	0	0	0	T	8555792	C	T	8555792	2	4	106	1	0	0	0	0	0	0	0	1	12499	622	22	4		4	PRAM1	19	8555792	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1642052	8555792	50573191	318	20458											
MYO1F	4542	broad.mit.edu	37	chr19	8616943	8616943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagatgtggaagttcctctCattttcattttgcatgacca	9	16	8	8	0	2	2	2	1	1	1	4	3	3	3	2	1	1	3	2	1	2	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:8616943C>G	ENST00000338257.8	-	7	877	c.610G>C	c.(610-612)Gag>Cag	p.E204Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	204	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AAGTTCCTCTCATTTTCATTT	0.572													26	48					0	0	0	0	G	8616943	C	G	8616943	3	3	106	1	0	0	0	0	1	0	0	0	10143	835	29	2	2774	2	MYO1F	19	8616943	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	61151	8616943	50512040	319	20459											
MUC16	94025	broad.mit.edu	37	chr19	8987085	8987085	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgtaccgtgcacccaGgctgctcctctggaacaaag	8	8	11	14	1	1	0	0	0	1	0	2	1	2	1	4	2	4	4	4	2	3	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:8987085G>A	ENST00000397910.4	-	69	42108	c.41905C>T	c.(41905-41907)Ctg>Ttg	p.L13969L	MUC16_ENST00000380951.5_Silent_p.L610L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13994	SEA 13.			Missing (in Ref. 3; AAK74120).	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						CGTGCACCCAGGCTGCTCCTC	0.602													3	10					0	0	0	0	A	8987085	G	A	8987085	2	1	106	1	0	0	0	0	0	0	0	1	10043	991	35	4		4	MUC16	19	8987085	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	370142	8987085	50141898	320	20460											
MUC16	94025	broad.mit.edu	37	chr19	9047583	9047583	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcaggatgagtaacccAtgaggctgttgcctctgatt	9	11	12	9	0	1	3	0	3	1	0	1	5	1	4	2	2	3	4	2	2	1	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:9047583A>G	ENST00000397910.4	-	5	34251	c.34048T>C	c.(34048-34050)Tgg>Cgg	p.W11350R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11352	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						TGAGTAACCCATGAGGCTGTT	0.507													75	174					0	0	0	0	G	9047583	A	G	9047583	3	3	106	1	0	0	0	0	1	0	0	0	10043	217	8	5	9795	5	MUC16	19	9047583	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	60498	9047583	50081400	321	20461											
ZNF560	147741	broad.mit.edu	37	chr19	9577625	9577625	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagttagtacacaagacctActgtaagctttttcacatgc	12	13	7	9	0	1	2	1	1	0	1	1	2	1	2	1	0	4	4	1	0	5	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:9577625A>T	ENST00000301480.4	-	10	2211	c.1998T>A	c.(1996-1998)agT>agA	p.S666R		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	666					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CACAAGACCTACTGTAAGCTT	0.388													50	76					0	0	0	0	T	9577625	A	T	9577625	3	4	106	1	0	0	0	0	1	0	0	0	18086	388	14	5	378	5	ZNF560	19	9577625	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	530042	9577625	49551358	322	20462											
ZNF426	79088	broad.mit.edu	37	chr19	9639320	9639320	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctccagtgtggattcgCatgtgaattttaaggtgggt	7	17	12	5	1	1	1	0	1	1	0	3	2	1	2	1	3	0	1	1	3	2	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:9639320C>A	ENST00000593003.1	-	6	1764	c.1287G>T	c.(1285-1287)atG>atT	p.M429I	ZNF426_ENST00000253115.2_Missense_Mutation_p.M467I|ZNF426_ENST00000535489.1_Missense_Mutation_p.M467I			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGTGGATTCGCATGTGAATTT	0.423													19	56					0.00121646	0.0017231	1	0	A	9639320	C	A	9639320	3	1	106	1	0	0	0	0	1	0	0	0	17995	710	25	4	267	4	ZNF426	19	9639320	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	61695	9639320	49489663	323	20463											
DNM2	1785	broad.mit.edu	37	chr19	10893759	10893759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccggcacatggccgaccGcatgggcacgccacatctgc	8	5	11	17	4	1	0	0	0	1	0	1	1	1	0	4	3	2	3	4	3	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:10893759G>T	ENST00000314646.5	+	6	976	c.812G>T	c.(811-813)cGc>cTc	p.R271L	DNM2_ENST00000359692.6_Missense_Mutation_p.R271L|DNM2_ENST00000408974.4_Missense_Mutation_p.R271L|DNM2_ENST00000585892.1_Missense_Mutation_p.R271L|DNM2_ENST00000389253.4_Missense_Mutation_p.R271L|DNM2_ENST00000355667.6_Missense_Mutation_p.R271L			P50570	DYN2_HUMAN	dynamin 2	271					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ATGGCCGACCGCATGGGCACG	0.577			"F, N, Splice, Mis, O"		ETP ALL								19	40					1.45105e-14	2.42337e-14	1	0	T	10893759	G	T	10893759	3	4	106	1	0	0	0	0	1	0	0	0	4708	1087	38	3	834	3	DNM2	19	10893759	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1254439	10893759	48235224	324	20464											
MAN2B1	4125	broad.mit.edu	37	chr19	12767762	12767762	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctcccgtcccggctcaCgcgcgccgccgtctggctga	3	6	11	21	7	2	1	1	1	1	0	4	1	4	1	6	2	0	2	6	2	0	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:12767762C>G	ENST00000456935.2	-	12	1568		c.e12+1		MAN2B1_ENST00000221363.4_Splice_Site|MAN2B1_ENST00000495617.1_Splice_Site	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1						protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCCGGCTCACGCGCGCCGCC	0.572													8	12					0	0	0	0	G	12767762	C	G	12767762	5	3	106	1	0	0	0	0	0	0	1	0	9285	550	19	3	1559	3	MAN2B1	19	12767762	Splice_Site	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1874003	12767762	46361221	325	20465											
ASNA1	439	broad.mit.edu	37	chr19	12848400	12848400	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagccgctggagcctacActtagcaacatcatcgagca	11	7	11	12	2	1	0	1	0	0	0	2	3	1	2	2	2	6	3	2	2	3	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:12848400A>C	ENST00000591090.1	+	2	183	c.81A>C	c.(79-81)acA>acC	p.T27T	ASNA1_ENST00000357332.3_Silent_p.T27T			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	27					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	TGGAGCCTACACTTAGCAACA	0.627													7	14					0	0	0	0	C	12848400	A	C	12848400	2	2	106	1	0	0	0	0	0	0	0	1	1051	146	6	5		5	ASNA1	19	12848400	Silent	SNP	A	TCGA-CN-6992-01A-11D-1912-08	80638	12848400	46280583	326	20466											
C19orf44	84167	broad.mit.edu	37	chr19	16611661	16611661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtttttggtgacttcagtGatgtttccttggaagattca	8	18	10	5	0	2	3	2	2	0	1	3	4	3	4	1	2	0	2	1	2	1	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:16611661G>A	ENST00000221671.3	+	2	214	c.58G>A	c.(58-60)Gat>Aat	p.D20N	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.D20N	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	20										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGACTTCAGTGATGTTTCCTT	0.423													41	83					0	0	0	0	A	16611661	G	A	16611661	3	1	106	1	0	0	0	0	1	0	0	0	1945	1290	45	2	60	2	C19orf44	19	16611661	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	3763261	16611661	42517322	327	20467											
KIAA1683	80726	broad.mit.edu	37	chr19	18368176	18368176	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctccaggcggactggatGgctgtggccgctttgtcctg	3	10	14	14	2	0	0	0	0	0	0	2	2	2	2	5	5	0	2	5	5	0	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:18368176G>A	ENST00000392413.3	-	4	4133	c.3918C>T	c.(3916-3918)gcC>gcT	p.A1306A	KIAA1683_ENST00000600328.2_Silent_p.A1119A|KIAA1683_ENST00000600359.2_Silent_p.A1073A	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	109						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CGGACTGGATGGCTGTGGCCG	0.652													19	40					0	0	0	0	A	18368176	G	A	18368176	2	1	106	1	0	0	0	0	0	0	0	1	8302	1335	47	4		4	KIAA1683	19	18368176	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1756515	18368176	40760807	328	20468											
ARMC6	93436	broad.mit.edu	37	chr19	19166617	19166617	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtgtgtgagcagagctgCgcggccctgtgcttcctggc	4	9	16	12	2	0	2	0	1	0	1	1	2	1	2	2	3	4	3	2	3	0	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:19166617C>A	ENST00000535612.1	+	8	1605	c.1173C>A	c.(1171-1173)tgC>tgA	p.C391*	ARMC6_ENST00000546344.1_Nonsense_Mutation_p.C298*|ARMC6_ENST00000392335.2_Nonsense_Mutation_p.C366*|ARMC6_ENST00000392336.3_Nonsense_Mutation_p.C391*|ARMC6_ENST00000269932.6_Nonsense_Mutation_p.C366*	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	391							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AGCAGAGCTGCGCGGCCCTGT	0.642													59	122					3.79397e-19	6.84382e-19	1	0	A	19166617	C	A	19166617	4	1	106	1	0	0	0	0	0	1	0	0	959	776	27	3	1120	3	ARMC6	19	19166617	Nonsense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	798441	19166617	39962366	329	20469											
NCAN	1463	broad.mit.edu	37	chr19	19349086	19349086	+	Frame_Shift_Del	DEL	G	G	-																															cgagggctgtgaccgcggctGgcataagttccagggccact																										TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:19349086delG	ENST00000252575.5	+	11	3318	c.3275delG	c.(3274-3276)tgfs	p.W1092fs	NCAN_ENST00000538881.1_Frame_Shift_Del_p.W543fs	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1092	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GACCGCGGCTGGCATAAGTTC	0.662													42	69	---	---	---	---					-	19349086	G	-	19349086	7	5	106	1	0	1	0	1	0	0	0	0	10274	1357	47	0	3313	0	NCAN	19	19349086	Frame_Shift_Del	DEL	G	TCGA-CN-6992-01A-11D-1912-08	182469	19349086	39779897	330	20470											
ZNF676	163223	broad.mit.edu	37	chr19	22364105	22364105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttacatttcaaacctttCtctccagtatgccttatctt	8	19	2	12	0	4	0	1	0	3	0	6	0	5	0	3	0	3	1	3	0	4	7			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:22364105C>G	ENST00000397121.2	-	3	731	c.414G>C	c.(412-414)gaG>gaC	p.E138D		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCAAACCTTTCTCTCCAGTAT	0.323													11	121					0	0	0	0	G	22364105	C	G	22364105	3	3	106	1	0	0	0	0	1	0	0	0	18178	912	32	2	1356	2	ZNF676	19	22364105	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	3015019	22364105	36764878	331	20471											
ZFP14	57677	broad.mit.edu	37	chr19	36832353	36832353	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccctcaatcttgcttttGcattcccaatcattcctaaa	9	15	2	15	0	3	0	2	0	1	0	6	0	6	0	4	0	2	2	4	0	4	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:36832353G>T	ENST00000270001.7	-	5	490	c.375C>A	c.(373-375)tgC>tgA	p.C125*		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCTTGCTTTTGCATTCCCAAT	0.343													15	72					1.37285e-15	2.33457e-15	1	0	T	36832353	G	T	36832353	4	4	106	1	0	0	0	0	0	1	0	0	17734	1311	46	4	1230	4	ZFP14	19	36832353	Nonsense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	14468248	36832353	22296630	332	20472											
ZNF260	339324	broad.mit.edu	37	chr19	37005104	37005104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcatatgcacagtaagaGatgagctttgacagaaggct	13	11	10	7	0	1	4	1	2	1	2	2	5	1	4	0	1	2	4	0	1	3	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:37005104G>A	ENST00000523638.1	-	3	2158	c.1037C>T	c.(1036-1038)tCt>tTt	p.S346F	ZNF260_ENST00000592282.1_Missense_Mutation_p.S346F|ZNF260_ENST00000588993.1_Missense_Mutation_p.S346F|ZNF260_ENST00000593142.1_Missense_Mutation_p.S346F	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	346					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CACAGTAAGAGATGAGCTTTG	0.423													12	37					0	0	0	0	A	37005104	G	A	37005104	3	1	106	1	0	0	0	0	1	0	0	0	17897	942	33	2	205	2	ZNF260	19	37005104	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	172751	37005104	22123879	333	20473											
CRX	1406	broad.mit.edu	37	chr19	48342676	48342676	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaggcccggcctgccAagaggaaggcgggcacgtcc	9	2	16	14	3	0	1	0	0	0	1	1	2	1	2	5	6	1	1	5	6	3	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:48342676A>T	ENST00000221996.7	+	4	558	c.352A>T	c.(352-354)Aag>Tag	p.K118*	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Nonsense_Mutation_p.K118*	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	118					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCGGCCTGCCAAGAGGAAGGC	0.647													35	24					0	0	0	0	T	48342676	A	T	48342676	4	4	106	1	0	0	0	0	0	1	0	0	3932	131	5	5	362	5	CRX	19	48342676	Nonsense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	11337572	48342676	10786307	334	20474											
GYS1	2997	broad.mit.edu	37	chr19	49477910	49477910	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgctattgaagaggccGattcggcggatggtggtcag	8	9	16	8	3	1	2	1	1	0	1	2	4	1	3	1	5	1	2	1	5	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:49477910G>T	ENST00000323798.3	-	11	1585	c.1389C>A	c.(1387-1389)atC>atA	p.I463I	GYS1_ENST00000263276.6_Silent_p.I399I|GYS1_ENST00000544287.1_Silent_p.I96I|GYS1_ENST00000541188.1_Silent_p.I383I	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	463					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGAAGAGGCCGATTCGGCGGA	0.612													12	7					7.03913e-09	1.08665e-08	1	0	T	49477910	G	T	49477910	2	4	106	1	0	0	0	0	0	0	0	1	6962	1048	37	3		3	GYS1	19	49477910	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1135234	49477910	9651073	335	20475											
ZNF611	81856	broad.mit.edu	37	chr19	53209368	53209368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactcattacaattgtaacGttttactccagtatgaagtc	13	14	5	9	1	1	1	1	1	0	0	3	1	2	1	1	0	3	3	1	0	6	6	rs146528210		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:53209368G>A	ENST00000543227.1	-	6	1214	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	ZNF611_ENST00000319783.1_Missense_Mutation_p.R314C|ZNF611_ENST00000595798.1_Missense_Mutation_p.R245C|ZNF611_ENST00000602162.1_Missense_Mutation_p.R245C|ZNF611_ENST00000540744.1_Missense_Mutation_p.R314C|ZNF611_ENST00000453741.2_Missense_Mutation_p.R245C	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CAATTGTAACGTTTTACTCCA	0.398													5	77					0	0	0	0	A	53209368	G	A	53209368	3	1	106	1	0	0	0	0	1	0	0	0	18132	1145	40	1	1181	1	ZNF611	19	53209368	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	3731458	53209368	5919615	336	20476											
NLRP12	91662	broad.mit.edu	37	chr19	54301518	54301518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagtttctggagtctgcagGcgggatgttgcagcccctca	7	10	13	11	1	3	0	1	0	2	0	3	2	3	2	2	3	3	4	2	3	0	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:54301518G>A	ENST00000324134.6	-	8	3074	c.2906C>T	c.(2905-2907)gCc>gTc	p.A969V	NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000345770.5_Missense_Mutation_p.A970V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A969V|NLRP12_ENST00000391773.1_Missense_Mutation_p.A970V|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391775.3_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	969					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAGTCTGCAGGCGGGATGTTG	0.582													17	16					0	0	0	0	A	54301518	G	A	54301518	3	1	106	1	0	0	0	0	1	0	0	0	10544	1203	42	4	291	4	NLRP12	19	54301518	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1092150	54301518	4827465	337	20477											
PRKCG	5582	broad.mit.edu	37	chr19	54401709	54401709	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cataggtgatgctggccgagCgcaggggctctgatgagctc	7	8	16	10	2	1	3	0	3	1	0	2	4	1	3	1	4	3	4	1	4	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:54401709C>G	ENST00000263431.3	+	11	1390	c.1108C>G	c.(1108-1110)Cgc>Ggc	p.R370G	PRKCG_ENST00000542049.1_Missense_Mutation_p.R257G|PRKCG_ENST00000540413.1_Missense_Mutation_p.R370G|PRKCG_ENST00000536044.1_3'UTR	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	370	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GCTGGCCGAGCGCAGGGGCTC	0.577													16	18					0	0	0	0	G	54401709	C	G	54401709	3	3	106	1	0	0	0	0	1	0	0	0	12592	768	27	3	1150	3	PRKCG	19	54401709	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	100191	54401709	4727274	338	20478											
LILRB2	10288	broad.mit.edu	37	chr19	54779807	54779807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggggcggggtctcacccGagtgtccatctccaccccat	7	7	11	16	2	2	0	1	0	2	0	5	1	3	0	5	4	0	0	5	4	0	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:54779807G>A	ENST00000391748.1	-	13	1772	c.1645C>T	c.(1645-1647)Cgg>Tgg	p.R549W	LILRB2_ENST00000434421.1_Missense_Mutation_p.R434W|LILRB2_ENST00000314446.5_Missense_Mutation_p.R549W|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391749.4_Missense_Mutation_p.R550W	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	550					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCTCACCCGAGTGTCCATC	0.622													55	59					0	0	0	0	A	54779807	G	A	54779807	3	1	106	1	0	0	0	0	1	0	0	0	8845	1057	37	1	156	1	LILRB2	19	54779807	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	378098	54779807	4349176	339	20479											
KIR3DL2	3812	broad.mit.edu	37	chr19	55378058	55378058	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacagagaaaaatcagtcgcCcttctcagaggcccaagaca	15	6	8	12	1	2	3	2	0	1	3	4	4	2	3	2	1	1	0	2	1	4	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:55378058C>A	ENST00000326321.3	+	9	1273	c.1240C>A	c.(1240-1242)Cct>Act	p.P414T	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.P414T|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.P397T	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	414					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AATCAGTCGCCCTTCTCAGAG	0.522													114	97					9.4957e-49	1.87332e-48	1	0	A	55378058	C	A	55378058	3	1	106	1	0	0	0	0	1	0	0	0	8373	623	22	4	1274	4	KIR3DL2	19	55378058	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	598251	55378058	3750925	340	20480											
ZNF274	10782	broad.mit.edu	37	chr19	58718244	58718244	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgctgaagatggaagcctGagtgcagatgcccccagtga	11	8	13	9	0	0	5	0	3	0	2	0	6	0	6	3	1	4	2	3	1	3	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:58718244G>A	ENST00000326804.4	+	5	873	c.414G>A	c.(412-414)ctG>ctA	p.L138L	ZNF274_ENST00000424679.2_Silent_p.L33L|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.L106L	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	138					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ATGGAAGCCTGAGTGCAGATG	0.577													4	15					0	0	0	0	A	58718244	G	A	58718244	2	1	106	1	0	0	0	0	0	0	0	1	17904	1277	45	2		2	ZNF274	19	58718244	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	3340186	58718244	410739	341	20481											
TPX2	22974	broad.mit.edu	37	chr20	30366776	30366776	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatcatttgaggagcaagaAggatgatattagtaagtttc	15	13	10	3	0	1	3	1	2	0	1	2	5	1	5	0	2	1	3	0	2	6	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:30366776A>G	ENST00000340513.4	+	10	1571	c.1043A>G	c.(1042-1044)aAg>aGg	p.K348R	TPX2_ENST00000300403.6_Missense_Mutation_p.K348R			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	348					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AGGAGCAAGAAGGATGATATT	0.403													5	31					0	0	0	0	G	30366776	A	G	30366776	3	3	106	1	0	0	0	0	1	0	0	0	16527	72	3	5	1073	5	TPX2	20	30366776	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08		30366776	32658744	342	20482											
TM9SF4	9777	broad.mit.edu	37	chr20	30749133	30749133	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggctctgcattctacGtcctggtttatgccatcttt	4	15	10	12	2	3	0	0	0	3	0	4	0	4	0	3	3	3	3	3	3	2	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:30749133G>C	ENST00000217315.5	+	17	2033	c.1693G>C	c.(1693-1695)Gtc>Ctc	p.V565L	TM9SF4_ENST00000398022.2_Missense_Mutation_p.V582L			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	582						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCATTCTACGTCCTGGTTTA	0.517													28	45					0	0	0	0	C	30749133	G	C	30749133	3	2	106	1	0	0	0	0	1	0	0	0	16074	1145	40	3	1810	3	TM9SF4	20	30749133	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	382357	30749133	32276387	343	20483											
NCOA3	8202	broad.mit.edu	37	chr20	46281792	46281792	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaccccatgcccatgtcTggcatgcctatgggtcctga	8	10	10	13	0	1	2	0	2	1	0	2	2	2	2	5	2	3	1	5	2	2	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:46281792T>C	ENST00000372004.3	+	22	4443	c.4227T>C	c.(4225-4227)tcT>tcC	p.S1409S	NCOA3_ENST00000371997.3_Silent_p.S1404S|NCOA3_ENST00000371998.3_Silent_p.S1413S|NCOA3_ENST00000341724.6_Silent_p.S1339S	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1413	Met-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGCCCATGTCTGGCATGCCTA	0.463													44	49					0	0	0	0	C	46281792	T	C	46281792	2	2	106	1	0	0	0	0	0	0	0	1	10300	1567	55	5		5	NCOA3	20	46281792	Silent	SNP	T	TCGA-CN-6992-01A-11D-1912-08	15532659	46281792	16743728	344	20484											
SLC9A8	23315	broad.mit.edu	37	chr20	48491309	48491309	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccataacctctccccagtCacccagatcctcatgcagca	11	7	4	19	0	3	1	2	0	1	1	5	1	4	1	6	0	3	2	6	0	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:48491309C>A	ENST00000417961.1	+	11	1284	c.1074C>A	c.(1072-1074)gtC>gtA	p.V358V	SLC9A8_ENST00000541138.1_Silent_p.V42V|SLC9A8_ENST00000361573.2_Silent_p.V342V|SLC9A8_ENST00000539601.1_Silent_p.V123V	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	342						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TCTCCCCAGTCACCCAGATCC	0.557													34	81					1.30015e-28	2.46086e-28	1	0	A	48491309	C	A	48491309	2	1	106	1	0	0	0	0	0	0	0	1	14808	813	29	2		2	SLC9A8	20	48491309	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	2209517	48491309	14534211	345	20485											
SLC9A8	23315	broad.mit.edu	37	chr20	48494548	48494548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtttgcatttcttggcctgtCcatttttagttttcctcaca	5	20	6	10	0	2	0	1	0	1	0	4	0	4	0	3	1	1	3	3	1	1	8			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:48494548C>T	ENST00000417961.1	+	12	1364	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	SLC9A8_ENST00000541138.1_Missense_Mutation_p.S69F|SLC9A8_ENST00000361573.2_Missense_Mutation_p.S369F|SLC9A8_ENST00000539601.1_Missense_Mutation_p.S150F	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	369						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CTTGGCCTGTCCATTTTTAGT	0.294													23	63					0	0	0	0	T	48494548	C	T	48494548	3	4	106	1	0	0	0	0	1	0	0	0	14808	855	30	2	1152	2	SLC9A8	20	48494548	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	3239	48494548	14530972	346	20486											
GMEB2	26205	broad.mit.edu	37	chr20	62234382	62234382	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaggttggctctgctgTctccacaggtgatggggtac	7	11	15	8	0	2	3	0	2	2	1	3	3	2	3	1	5	2	4	1	5	1	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:62234382T>C	ENST00000266068.1	-	3	771	c.293A>G	c.(292-294)gAc>gGc	p.D98G	GMEB2_ENST00000370077.1_Missense_Mutation_p.D98G|GMEB2_ENST00000370069.1_Missense_Mutation_p.D47G			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	98	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGCTCTGCTGTCTCCACAGGT	0.532													23	88					0	0	0	0	C	62234382	T	C	62234382	3	2	106	1	0	0	0	0	1	0	0	0	6539	1667	58	5	1327	5	GMEB2	20	62234382	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	13739834	62234382	791138	347	20487											
ADAMTS1	9510	broad.mit.edu	37	chr21	28212319	28212319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgtgtactggactcctccaCcgcacgttctcgaacagtct	7	11	8	15	4	2	0	0	0	2	0	6	2	4	1	3	1	2	3	3	1	2	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr21:28212319C>A	ENST00000284984.2	-	6	2181	c.1727G>T	c.(1726-1728)gGt>gTt	p.G576V		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	576	TSP type-1 1.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GACTCCTCCACCGCACGTTCT	0.493													20	76					8.00594e-06	1.18278e-05	1	0	A	28212319	C	A	28212319	3	1	106	1	0	0	0	0	1	0	0	0	255	507	18	4	1192	4	ADAMTS1	21	28212319	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08		28212319	19917576	348	20488											
TIAM1	7074	broad.mit.edu	37	chr21	32624279	32624279	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcctccaggctctcgctgTtggtggtgctcatctccagc	3	12	10	16	1	3	0	1	0	2	0	7	0	5	0	4	3	2	4	4	3	0	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr21:32624279T>C	ENST00000286827.3	-	6	1661	c.1190A>G	c.(1189-1191)aAc>aGc	p.N397S	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.N397S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	397					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCTCTCGCTGTTGGTGGTGCT	0.687													18	29					0	0	0	0	C	32624279	T	C	32624279	3	2	106	1	0	0	0	0	1	0	0	0	15984	1725	60	5	3681	5	TIAM1	21	32624279	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	4411960	32624279	15505616	349	20489											
GART	2618	broad.mit.edu	37	chr21	34878305	34878305	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaataccagctctttcCgctttatctaacccagctac	9	12	7	13	1	2	0	0	0	2	0	3	1	3	1	3	1	5	3	3	1	5	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr21:34878305C>T	ENST00000381831.3	-	19	2822	c.2559G>A	c.(2557-2559)gcG>gcA	p.A853A	GART_ENST00000543717.1_Silent_p.A405A|GART_ENST00000381815.4_Silent_p.A853A|GART_ENST00000381839.3_Silent_p.A853A	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	853	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CAGCTCTTTCCGCTTTATCTA	0.443													6	55					0	0	0	0	T	34878305	C	T	34878305	2	4	106	1	0	0	0	0	0	0	0	1	6292	639	23	1		1	GART	21	34878305	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	2254026	34878305	13251590	350	20490											
SON	6651	broad.mit.edu	37	chr21	34932259	34932259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatttgacagtaactcgatGcaattcactttgtggaacca	12	13	7	9	1	2	1	2	1	0	0	3	3	2	2	1	1	3	2	1	1	3	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr21:34932259G>A	ENST00000300278.4	+	7	6763	c.6734G>A	c.(6733-6735)tGc>tAc	p.C2245Y	SON_ENST00000381692.2_Intron|SON_ENST00000356577.4_Intron|AP000304.2_ENST00000439593.1_RNA|SON_ENST00000290239.6_Intron	NM_032195.1	NP_115571.1	P18583	SON_HUMAN	SON DNA binding protein	0					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GTAACTCGATGCAATTCACTT	0.488													8	19					0	0	0	0	A	34932259	G	A	34932259	3	1	106	1	0	0	0	0	1	0	0	0	15014	1319	46	4	6760	4	SON	21	34932259	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	53954	34932259	13197636	351	20491											
COMT	1312	broad.mit.edu	37	chr22	19951848	19951848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaccaggatggcatccGtgccagctgctgcccagagc	8	5	11	17	1	0	1	0	0	0	1	1	2	1	2	6	2	6	3	6	2	1	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr22:19951848G>A	ENST00000403184.1	+	5	897	c.641G>A	c.(640-642)cGt>cAt	p.R214H	COMT_ENST00000407537.1_Intron|COMT_ENST00000406520.3_Intron|COMT_ENST00000403710.1_Intron|COMT_ENST00000449653.1_Intron|COMT_ENST00000361682.6_Intron			P21964	COMT_HUMAN	catechol-O-methyltransferase	0					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	GATGGCATCCGTGCCAGCTGC	0.607													4	19					0	0	0	0	A	19951848	G	A	19951848	3	1	106	1	0	0	0	0	1	0	0	0	3755	1160	40	1		1	COMT	22	19951848	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08		19951848	31352718	352	20492											
FBXO7	25793	broad.mit.edu	37	chr22	32894169	32894169	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atacaaagaaaagaatccccGaaagggcggtttgtgatgct	15	8	11	7	2	0	3	0	1	0	2	1	4	1	3	2	2	2	2	2	2	6	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr22:32894169G>A	ENST00000266087.7	+	9	1548	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	FBXO7_ENST00000397426.1_Silent_p.P293P|FBXO7_ENST00000382058.3_Silent_p.P328P	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	407					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGAATCCCCGAAAGGGCGGT	0.458													30	112					0	0	0	0	A	32894169	G	A	32894169	2	1	106	1	0	0	0	0	0	0	0	1	5805	1045	37	1		1	FBXO7	22	32894169	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	12942321	32894169	18410397	353	20493											
NPTXR	23467	broad.mit.edu	37	chr22	39224292	39224292	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggacccaggacccacCgtgctccagctcagccacac	9	4	9	19	1	1	0	1	0	0	0	2	2	2	2	5	2	4	3	5	2	0	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr22:39224292C>G	ENST00000333039.2	-	2	973	c.850_splice	c.e2+1	p.G284_splice		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	284						integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CAGGACCCACCGTGCTCCAGC	0.602													15	37					0	0	0	0	G	39224292	C	G	39224292	5	3	106	1	0	0	0	0	0	0	1	0	10675	666	23	3	668	3	NPTXR	22	39224292	Splice_Site	SNP	C	TCGA-CN-6992-01A-11D-1912-08	6330123	39224292	12080274	354	20494											
KLHDC7B	113730	broad.mit.edu	37	chr22	50987660	50987660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctgcaccatgcacaactaCctgtttctggcggggggcat	7	10	11	13	1	2	0	0	0	2	0	2	0	2	0	2	4	4	4	2	4	2	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr22:50987660C>T	ENST00000395676.2	+	1	1199	c.1065C>T	c.(1063-1065)taC>taT	p.Y355Y		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	355										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCACAACTACCTGTTTCTGG	0.647													31	83					0	0	0	0	T	50987660	C	T	50987660	2	4	106	1	0	0	0	0	0	0	0	1	8413	518	18	4		4	KLHDC7B	22	50987660	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	11763368	50987660	316906	355	20495											
PPEF1	5475	broad.mit.edu	37	chrX	18836239	18836239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccttactcgtgctttcCaacttcaagaccacagaaaa	13	10	6	12	1	1	3	1	1	0	2	3	3	2	3	3	0	3	1	3	0	5	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:18836239C>A	ENST00000361511.4	+	16	1971	c.1477C>A	c.(1477-1479)Caa>Aaa	p.Q493K	PPEF1_ENST00000349874.5_Missense_Mutation_p.Q431K|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000544635.1_Missense_Mutation_p.Q428K|PPEF1_ENST00000359763.6_Missense_Mutation_p.Q440K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	493	EF-hand 1.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TCGTGCTTTCCAACTTCAAGA	0.353													31	15					5.60225e-13	9.28495e-13	1	0	A	18836239	C	A	18836239	3	1	106	1	0	0	0	0	1	0	0	0	12378	595	21	4	1527	4	PPEF1	23	18836239	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08		18836239	136434321	356	20496											
FTHL17	53940	broad.mit.edu	37	chrX	31089993	31089993	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggaggtgtagagctccagCgtgatgtggctgttgatggc	7	11	17	6	1	0	3	0	2	0	1	1	4	1	4	1	4	2	4	1	4	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:31089993C>G	ENST00000359202.3	-	1	177	c.78G>C	c.(76-78)acG>acC	p.T26T		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	26	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.T26T(4)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGAGCTCCAGCGTGATGTGGC	0.627													23	18					0	0	0	0	G	31089993	C	G	31089993	2	3	106	1	0	0	0	0	0	0	0	1	6131	755	27	3		3	FTHL17	23	31089993	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	12253754	31089993	124180567	357	20497											
DMD	1756	broad.mit.edu	37	chrX	32536238	32536238	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtgaagttcagttatatCaacatccaacctaagacagc	14	10	7	10	0	2	2	2	1	0	1	3	2	3	2	2	0	3	3	2	0	6	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:32536238C>G	ENST00000357033.4	-	18	2385	c.2179G>C	c.(2179-2181)Gat>Cat	p.D727H	DMD_ENST00000378677.2_Missense_Mutation_p.D723H|DMD_ENST00000288447.4_Missense_Mutation_p.D719H	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	727					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAGTTATATCAACATCCAAC	0.333													11	5					0	0	0	0	G	32536238	C	G	32536238	3	3	106	1	0	0	0	0	1	0	0	0	4617	826	29	2	9369	2	DMD	23	32536238	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1446245	32536238	122734322	358	20498											
KCND1	3750	broad.mit.edu	37	chrX	48822582	48822582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcttggccctgcgagggCagcaagaagacagcaggctt	9	5	16	11	2	0	2	0	0	0	2	0	3	0	2	1	4	3	5	1	4	2	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:48822582C>A	ENST00000218176.3	-	5	2895	c.1598G>T	c.(1597-1599)tGc>tTc	p.C533F	KCND1_ENST00000376477.1_Missense_Mutation_p.C156F	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	533						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CCTGCGAGGGCAGCAAGAAGA	0.682													24	9					4.72057e-08	7.1355e-08	1	0	A	48822582	C	A	48822582	3	1	106	1	0	0	0	0	1	0	0	0	8071	710	25	4	353	4	KCND1	23	48822582	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	16286344	48822582	106447978	359	20499											
CCNB3	85417	broad.mit.edu	37	chrX	50052941	50052941	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgttgtctttacaggaaaAgaaaattactcaggggaaga	16	10	10	5	1	2	2	1	0	1	2	3	4	2	4	0	3	2	1	0	3	7	4			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:50052941A>T	ENST00000376042.1	+	6	2070	c.1772A>T	c.(1771-1773)aAg>aTg	p.K591M	CCNB3_ENST00000276014.7_Missense_Mutation_p.K591M|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	591					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.K591T(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTACAGGAAAAGAAAATTACT	0.408													13	9					0	0	0	0	T	50052941	A	T	50052941	3	4	106	1	0	0	0	0	1	0	0	0	2943	72	3	5	1786	5	CCNB3	23	50052941	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	1230359	50052941	105217619	360	20500											
KLHL4	56062	broad.mit.edu	37	chrX	86877360	86877360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggggcatgatgtgcaGaataggcaaggagaactggg	11	7	19	4	0	0	3	0	1	0	2	0	4	0	3	0	6	2	3	0	6	4	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:86877360G>T	ENST00000373119.4	+	5	1219	c.1074G>T	c.(1072-1074)caG>caT	p.Q358H	KLHL4_ENST00000373114.4_Missense_Mutation_p.Q358H	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	358						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATGATGTGCAGAATAGGCAAG	0.408													42	14					7.05377e-20	1.28662e-19	1	0	T	86877360	G	T	86877360	3	4	106	1	0	0	0	0	1	0	0	0	8443	933	33	2	1092	2	KLHL4	23	86877360	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	36824419	86877360	68393200	361	20501											
GPRASP2	114928	broad.mit.edu	37	chrX	101969964	101969964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccaaaactgagaccaagtCtgtgcctgcggcaaggccca	11	5	11	14	1	1	1	0	1	1	1	1	2	1	1	4	2	3	1	4	2	4	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:101969964C>T	ENST00000543253.1	+	5	1086	c.167C>T	c.(166-168)tCt>tTt	p.S56F	GPRASP2_ENST00000535209.1_Missense_Mutation_p.S56F|GPRASP2_ENST00000332262.5_Missense_Mutation_p.S56F	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAGACCAAGTCTGTGCCTGCG	0.567													55	16					0	0	0	0	T	101969964	C	T	101969964	3	4	106	1	0	0	0	0	1	0	0	0	6773	913	32	2	169	2	GPRASP2	23	101969964	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	15092604	101969964	53300596	362	20502											
GLRA4	441509	broad.mit.edu	37	chrX	102979899	102979899	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtctaggaaatcagagggGgacatgggctgggacccctt	9	9	15	8	0	2	1	1	0	1	1	2	4	2	4	2	5	0	1	2	5	2	3			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:102979899G>T	ENST00000372617.4	-	2	549	c.129C>A	c.(127-129)tcC>tcA	p.S43S		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	43						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AATCAGAGGGGGACATGGGCT	0.468													7	3					0.00307968	0.00433412	1	0	T	102979899	G	T	102979899	2	4	106	1	0	0	0	0	0	0	0	1	6508	1219	43	4		4	GLRA4	23	102979899	Silent	SNP	G	TCGA-CN-6992-01A-11D-1912-08	1009935	102979899	52290661	363	20503											
COL4A5	1287	broad.mit.edu	37	chrX	107844632	107844632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgctttcaggtcctaaagGggatccaggtcagactataa	11	11	10	9	0	2	1	2	0	0	1	4	2	4	2	2	4	1	1	2	4	4	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:107844632G>T	ENST00000328300.6	+	26	2202	c.1958G>T	c.(1957-1959)gGg>gTg	p.G653V	COL4A5_ENST00000361603.2_Missense_Mutation_p.G653V	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	653	Triple-helical region.		G -> R (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTCCTAAAGGGGATCCAGGT	0.408									Alport syndrome with Diffuse Leiomyomatosis				11	2					6.40141e-05	9.30985e-05	1	0	T	107844632	G	T	107844632	3	4	106	1	0	0	0	0	1	0	0	0	3724	1232	43	4	2060	4	COL4A5	23	107844632	Missense_Mutation	SNP	G	TCGA-CN-6992-01A-11D-1912-08	4864733	107844632	47425928	364	20504											
RGAG1	57529	broad.mit.edu	37	chrX	109695339	109695339	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctctggaaagatgtcCacgccactgaggagagctcc	11	6	11	13	1	1	3	0	1	1	2	3	5	3	4	4	2	2	1	4	2	1	0			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:109695339C>T	ENST00000465301.2	+	3	1740	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S	RGAG1_ENST00000540313.1_Silent_p.S498S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	498										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GAAAGATGTCCACGCCACTGA	0.507													96	33					0	0	0	0	T	109695339	C	T	109695339	2	4	106	1	0	0	0	0	0	0	0	1	13356	581	21	4		4	RGAG1	23	109695339	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1850707	109695339	45575221	365	20505											
DOCK11	139818	broad.mit.edu	37	chrX	117700005	117700005	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcttttgaactcaagaTgttagataaatatagccatt	14	15	6	6	0	2	3	2	1	0	2	2	3	2	3	1	0	3	2	1	0	7	7			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:117700005T>C	ENST00000276204.6	+	8	805	c.731T>C	c.(730-732)aTg>aCg	p.M244T	DOCK11_ENST00000276202.7_Missense_Mutation_p.M244T			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	244	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GAACTCAAGATGTTAGATAAA	0.373													88	20					0	0	0	0	C	117700005	T	C	117700005	3	2	106	1	0	0	0	0	1	0	0	0	4722	1464	51	5	761	5	DOCK11	23	117700005	Missense_Mutation	SNP	T	TCGA-CN-6992-01A-11D-1912-08	8004666	117700005	37570555	366	20506											
RHOXF2B	727940	broad.mit.edu	37	chrX	119211023	119211023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctggtcgctgtcctcaaCgttgccatcgctgccgctgg	3	11	12	15	4	2	0	1	0	1	0	5	0	3	0	3	2	3	5	3	2	1	1			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:119211023C>T	ENST00000371402.2	-	2	499	c.310G>A	c.(310-312)Gtt>Att	p.V104I	RP4-755D9.1_ENST00000553843.1_RNA	NM_001099685.1	NP_001093155.1	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	104						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						CTGTCCTCAACGTTGCCATCG	0.652													11	36					0	0	0	0	T	119211023	C	T	119211023	3	4	106	1	0	0	0	0	1	0	0	0	13432	536	19	1	568	1	RHOXF2B	23	119211023	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1511018	119211023	36059537	367	20507											
THOC2	57187	broad.mit.edu	37	chrX	122755304	122755304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcatctttatttggcCgctcttcctttggtttttct	2	24	5	10	1	4	0	1	0	3	0	5	0	5	0	2	2	0	2	2	2	1	9			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:122755304C>T	ENST00000245838.8	-	31	3951	c.3920G>A	c.(3919-3921)cGg>cAg	p.R1307Q	THOC2_ENST00000355725.4_Missense_Mutation_p.R1307Q|THOC2_ENST00000491737.1_Missense_Mutation_p.R1192Q	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1307	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTTATTTGGCCGCTCTTCCTT	0.393													7	91					0	0	0	0	T	122755304	C	T	122755304	3	4	106	1	0	0	0	0	1	0	0	0	15959	652	23	1	893	1	THOC2	23	122755304	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	3544281	122755304	32515256	368	20508											
RBMX2	51634	broad.mit.edu	37	chrX	129546423	129546423	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctcttcgtcacccagAcgcaagacagtaaaggaaaa	15	6	7	13	2	2	2	1	0	1	2	4	3	3	3	3	1	0	2	3	1	5	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:129546423A>T	ENST00000305536.6	+	6	634	c.570A>T	c.(568-570)agA>agT	p.R190S		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	190	Lys-rich.						nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CGTCACCCAGACGCAAGACAG	0.483													33	5					0	0	0	0	T	129546423	A	T	129546423	3	4	106	1	0	0	0	0	1	0	0	0	13234	272	10	5	592	5	RBMX2	23	129546423	Missense_Mutation	SNP	A	TCGA-CN-6992-01A-11D-1912-08	6791119	129546423	25724137	369	20509											
GPR112	139378	broad.mit.edu	37	chrX	135429438	135429438	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagcttcccatatactttCagtggtggtggagttgttgc	6	15	11	9	0	2	0	2	0	0	0	3	1	3	1	1	3	3	3	1	3	2	6			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:135429438C>T	ENST00000394143.1	+	6	3864	c.3573C>T	c.(3571-3573)ttC>ttT	p.F1191F	GPR112_ENST00000287534.4_Silent_p.F1128F|GPR112_ENST00000370652.1_Silent_p.F1191F|GPR112_ENST00000394141.1_Silent_p.F986F|GPR112_ENST00000412101.1_Silent_p.F986F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1191					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATATACTTTCAGTGGTGGTG	0.473													72	25					0	0	0	0	T	135429438	C	T	135429438	2	4	106	1	0	0	0	0	0	0	0	1	6678	825	29	2		2	GPR112	23	135429438	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	5883015	135429438	19841122	370	20510											
MAGEC2	51438	broad.mit.edu	37	chrX	141290919	141290919	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggggcacctcccgataCtccaggtaatgtccctgcac	7	9	10	15	1	0	0	0	0	0	0	3	1	3	0	4	3	2	3	4	3	2	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:141290919C>G	ENST00000247452.3	-	3	1202	c.855G>C	c.(853-855)gaG>gaC	p.E285D		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	285	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCGATACTCCAGGTAAT	0.502										HNSCC(46;0.14)			63	16					0	0	0	0	G	141290919	C	G	141290919	3	3	106	1	0	0	0	0	1	0	0	0	9250	564	20	4	270	4	MAGEC2	23	141290919	Missense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	5861481	141290919	13979641	371	20511											
SPANXN3	139067	broad.mit.edu	37	chrX	142596992	142596992	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttggtacctcttgcatCtggtaagaaaatagggagag	11	12	12	6	0	2	2	0	0	2	2	2	3	2	2	1	3	2	4	1	3	5	5			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:142596992C>A	ENST00000370503.2	-	2	162		c.e2-1		GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3											endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTTGCATCTGGTAAGAAA	0.418													45	15					2.00842e-17	3.50668e-17	1	0	A	142596992	C	A	142596992	5	1	106	1	0	0	0	0	0	0	1	0	15082	927	32	2	351	2	SPANXN3	23	142596992	Splice_Site	SNP	C	TCGA-CN-6992-01A-11D-1912-08	1306073	142596992	12673568	372	20512											
AFF2	2334	broad.mit.edu	37	chrX	147743456	147743456	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgatgcacttgccaacCgagtccagaacacgcttgga	12	7	11	11	2	0	2	0	1	0	1	1	4	1	3	3	2	4	2	3	2	3	2			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:147743456C>T	ENST00000370460.2	+	3	687	c.208C>T	c.(208-210)Cga>Tga	p.R70*	AFF2_ENST00000342251.3_Nonsense_Mutation_p.R66*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.R66*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.R66*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	70					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTGCCAACCGAGTCCAGAA	0.388													67	30					0	0	0	0	T	147743456	C	T	147743456	4	4	106	1	0	0	0	0	0	1	0	0	357	644	23	1	218	1	AFF2	23	147743456	Nonsense_Mutation	SNP	C	TCGA-CN-6992-01A-11D-1912-08	5146464	147743456	7527104	373	20513											
FUNDC2	65991	broad.mit.edu	37	chrX	154261754	154261754	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatggtggcgtaagctgttCgggcaggaatctggaccttc	7	10	14	10	2	1	0	0	0	1	0	3	2	1	2	2	5	1	4	2	5	2	3	rs147164809		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:154261754C>T	ENST00000369498.3	+	2	464	c.210C>T	c.(208-210)ttC>ttT	p.F70F	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	70						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTAAGCTGTTCGGGCAGGAAT	0.458													9	55					0	0	0	0	T	154261754	C	T	154261754	2	4	106	1	0	0	0	0	0	0	0	1	6146	883	31	1		1	FUNDC2	23	154261754	Silent	SNP	C	TCGA-CN-6992-01A-11D-1912-08	6518298	154261754	1008806	374	20514											
EPS15	2060	broad.mit.edu	37	chr1	51873905	51873905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaattctgctgtttcttGctgtagacggctcagctctt	5	16	8	12	1	4	1	1	0	3	1	5	1	5	1	1	1	3	6	1	1	2	5			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:51873905G>C	ENST00000371733.3	-	15	1471	c.1375C>G	c.(1375-1377)Caa>Gaa	p.Q459E	EPS15_ENST00000396122.4_Missense_Mutation_p.Q136E|EPS15_ENST00000371730.2_Intron|EPS15_ENST00000493793.1_5'UTR	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	459					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GCTGTTTCTTGCTGTAGACGG	0.448			T	MLL	ALL								24	81					0	0	0	0	C	51873905	G	C	51873905	3	2	107	1	0	0	0	0	1	0	0	0	5230	1328	46	4	1359	4	EPS15	1	51873905	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08		51873905	197376716	1	20515											
CDCP2	200008	broad.mit.edu	37	chr1	54607036	54607036	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtggcactccatgctgttCgggtagttgttgggatactc	6	13	13	9	1	0	0	0	0	0	0	3	1	1	1	1	3	2	6	1	3	2	5			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:54607036C>T	ENST00000371330.1	-	3	1345	c.498G>A	c.(496-498)ccG>ccA	p.P166P	RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	166	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCATGCTGTTCGGGTAGTTGT	0.607													22	20					0	0	0	0	T	54607036	C	T	54607036	2	4	107	1	0	0	0	0	0	0	0	1	3123	871	31	1		1	CDCP2	1	54607036	Silent	SNP	C	TCGA-CN-6994-01A-11D-1912-08	2733131	54607036	194643585	2	20516											
FLG	2312	broad.mit.edu	37	chr1	152281946	152281946	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcctgaccctcttgggAcgctgagtgcctggagctgt	4	11	15	11	1	1	2	0	2	1	0	2	4	2	4	3	3	2	2	3	3	0	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:152281946A>C	ENST00000368799.1	-	3	5451	c.5416T>G	c.(5416-5418)Tcc>Gcc	p.S1806A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1806	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTTGGGACGCTGAGTGC	0.592									Ichthyosis				96	393					0	0	0	0	C	152281946	A	C	152281946	3	2	107	1	0	0	0	0	1	0	0	0	5967	275	10	5	6773	5	FLG	1	152281946	Missense_Mutation	SNP	A	TCGA-CN-6994-01A-11D-1912-08	97674910	152281946	96968675	3	20517											
SERPINC1	462	broad.mit.edu	37	chr1	173883822	173883822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggtgctgatagaaagTggtagcaaagcgggaattgg	12	8	16	5	1	0	2	0	1	0	1	0	3	0	3	1	4	4	3	1	4	5	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:173883822T>G	ENST00000367698.3	-	2	395	c.277A>C	c.(277-279)Act>Cct	p.T93P	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	93					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TGATAGAAAGTGGTAGCAAAG	0.522											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	85					0	0	0	0	G	173883822	T	G	173883822	3	3	107	1	0	0	0	0	1	0	0	0	14196	1696	59	5	1141	5	SERPINC1	1	173883822	Missense_Mutation	SNP	T	TCGA-CN-6994-01A-11D-1912-08	21601876	173883822	75366799	4	20518											
FMN2	56776	broad.mit.edu	37	chr1	240256799	240256799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctggcctccgtagccGccccggccaagaagcaccgg	6	4	12	19	4	0	1	0	0	0	1	1	1	1	1	8	3	3	2	8	3	3	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:240256799G>A	ENST00000319653.9	+	1	1620	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	464					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCGTAGCCGCCCCGGCCAA	0.726													7	29					0	0	0	0	A	240256799	G	A	240256799	3	1	107	1	0	0	0	0	1	0	0	0	5995	1087	38	1	1392	1	FMN2	1	240256799	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	66372977	240256799	8993822	5	20519											
TPO	7173	broad.mit.edu	37	chr2	1481015	1481015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgacctcgttcctggacgCgtccaccgtgtatggcagct	5	11	12	13	4	0	1	0	1	0	0	3	2	2	2	4	2	1	5	4	2	1	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:1481015C>T	ENST00000345913.4	+	8	1068	c.977C>T	c.(976-978)gCg>gTg	p.A326V	TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.A326V|TPO_ENST00000382198.1_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.A326V|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.A326V|TPO_ENST00000329066.4_Missense_Mutation_p.A326V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	326			A -> T (in TDH2A).		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCCTGGACGCGTCCACCGTG	0.701													7	14					0	0	0	0	T	1481015	C	T	1481015	3	4	107	1	0	0	0	0	1	0	0	0	16505	768	27	1	1003	1	TPO	2	1481015	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08		1481015	241718358	6	20520											
CEBPZ	10153	broad.mit.edu	37	chr2	37449559	37449559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcacccaggaagcaacctCtggttttttggtttctacat	8	14	9	10	0	2	0	0	0	2	0	2	1	2	1	2	3	4	4	2	3	3	5			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:37449559C>G	ENST00000234170.5	-	4	2174	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	677					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GAAGCAACCTCTGGTTTTTTG	0.353													11	74					0	0	0	0	G	37449559	C	G	37449559	3	3	107	1	0	0	0	0	1	0	0	0	3233	922	32	2	1187	2	CEBPZ	2	37449559	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	35968544	37449559	205749814	7	20521											
NCAPH	23397	broad.mit.edu	37	chr2	97024809	97024809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgatttcccttggggatgGagacatcaggaccatgtgcc	10	10	12	9	0	1	2	1	1	0	1	2	5	2	4	3	4	1	0	3	4	1	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:97024809G>T	ENST00000455200.1	+	10	1497	c.1202G>T	c.(1201-1203)gGa>gTa	p.G401V	NCAPH_ENST00000427946.1_Missense_Mutation_p.G276V|NCAPH_ENST00000240423.4_Missense_Mutation_p.G412V			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	412					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CTTGGGGATGGAGACATCAGG	0.433													12	76					5.50884e-06	8.21318e-06	1	0	T	97024809	G	T	97024809	3	4	107	1	0	0	0	0	1	0	0	0	10279	1174	41	2	1273	2	NCAPH	2	97024809	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	59575250	97024809	146174564	8	20522											
IL18R1	8809	broad.mit.edu	37	chr2	103006518	103006518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctttcttttctagcaGacatggctgatatcccaggc	7	15	7	12	0	2	2	0	1	2	1	4	2	4	2	2	2	1	2	2	2	2	6			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:103006518G>T	ENST00000409599.1	+	10	1308	c.952G>T	c.(952-954)Gac>Tac	p.D318Y	IL18R1_ENST00000233957.1_Missense_Mutation_p.D318Y			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	318					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTTTCTAGCAGACATGGCTGA	0.403													19	26					2.35188e-11	3.68511e-11	1	0	T	103006518	G	T	103006518	3	4	107	1	0	0	0	0	1	0	0	0	7700	942	33	2	982	2	IL18R1	2	103006518	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	5981709	103006518	140192855	9	20523											
MERTK	10461	broad.mit.edu	37	chr2	112705062	112705062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctgtgggcccgcctgaGcccgtcaacattttctgggt	5	10	13	13	2	2	1	1	1	1	0	2	1	2	1	3	3	2	1	3	3	1	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:112705062G>C	ENST00000295408.4	+	4	932	c.675G>C	c.(673-675)gaG>gaC	p.E225D	MERTK_ENST00000409780.1_Missense_Mutation_p.E49D|MERTK_ENST00000421804.2_Missense_Mutation_p.E225D			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	225	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCCCGCCTGAGCCCGTCAACA	0.532													37	61					0	0	0	0	C	112705062	G	C	112705062	3	2	107	1	0	0	0	0	1	0	0	0	9548	962	34	4	689	4	MERTK	2	112705062	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	9698544	112705062	130494311	10	20524											
LRP1B	53353	broad.mit.edu	37	chr2	141528566	141528566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caccattgtttagttggcagGaattgctgcctgcatagaat	10	13	10	8	0	0	1	0	0	0	1	0	2	0	2	2	2	3	5	2	2	4	6			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:141528566G>A	ENST00000389484.3	-	34	6481	c.5510C>T	c.(5509-5511)tCc>tTc	p.S1837F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1837	EGF-like 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGTTGGCAGGAATTGCTGCC	0.303										TSP Lung(27;0.18)			10	23					0	0	0	0	A	141528566	G	A	141528566	3	1	107	1	0	0	0	0	1	0	0	0	9019	1174	41	2	8521	2	LRP1B	2	141528566	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	28823504	141528566	101670807	11	20525											
BAZ2B	29994	broad.mit.edu	37	chr2	160240133	160240133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacttgcggagtttaccttCtaccacccatttatctctcc	7	16	4	14	1	2	0	0	0	2	0	4	1	3	1	4	1	4	1	4	1	4	8			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:160240133C>G	ENST00000392783.2	-	24	4240	c.3745G>C	c.(3745-3747)Gaa>Caa	p.E1249Q	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1213Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1215Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1149Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGTTTACCTTCTACCACCCAT	0.303													6	26					0	0	0	0	G	160240133	C	G	160240133	3	3	107	1	0	0	0	0	1	0	0	0	1336	922	32	2	2817	2	BAZ2B	2	160240133	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	18711567	160240133	82959240	12	20526											
SLC4A10	57282	broad.mit.edu	37	chr2	162728868	162728868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaaaatgatgttagcagaGaaaacagcactgttgacttt	17	11	8	5	0	0	3	0	2	0	1	0	4	0	3	0	0	3	4	0	0	6	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:162728868G>A	ENST00000375514.5	+	8	1152	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	SLC4A10_ENST00000421911.1_Missense_Mutation_p.E278K|SLC4A10_ENST00000415876.2_Missense_Mutation_p.E278K|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Missense_Mutation_p.E278K|SLC4A10_ENST00000446997.1_Missense_Mutation_p.E278K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E278K	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	278					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGTTAGCAGAGAAAACAGCAC	0.373											OREG0004894	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	16	85					0	0	0	0	A	162728868	G	A	162728868	3	1	107	1	0	0	0	0	1	0	0	0	14739	943	33	2	943	2	SLC4A10	2	162728868	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	2488735	162728868	80470505	13	20527											
ANKRD44	91526	broad.mit.edu	37	chr2	197990126	197990126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtatgctgcccagtgcaGagcacgccggtccttcttgt	6	11	11	13	2	1	1	0	0	1	1	2	1	2	1	3	1	4	4	3	1	1	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990126G>T	ENST00000328737.2	-	6	530	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	ANKRD44_ENST00000337207.5_Missense_Mutation_p.L152M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.L169M|ANKRD44_ENST00000450567.1_Missense_Mutation_p.L152M|ANKRD44_ENST00000539527.1_Missense_Mutation_p.L105M|ANKRD44_ENST00000409153.1_Missense_Mutation_p.L177M|ANKRD44_ENST00000409919.1_Missense_Mutation_p.L177M			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	177							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCCCAGTGCAGAGCACGCCGG	0.428													31	91					7.11191e-15	1.15101e-14	1	0	T	197990126	G	T	197990126	3	4	107	1	0	0	0	0	1	0	0	0	671	933	33	2	2389	2	ANKRD44	2	197990126	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	35261258	197990126	45209247	14	20528			1	28		6	5	627	N	G	1.966794e-12
ANKRD44	91526	broad.mit.edu	37	chr2	197990157	197990157	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttcttgtcaaatgcattGatatttgcccctttggccaa	8	16	6	11	0	2	1	1	1	1	0	3	1	3	1	4	1	2	1	4	1	3	6			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990157G>C	ENST00000328737.2	-	6	499	c.423C>G	c.(421-423)atC>atG	p.I141M	ANKRD44_ENST00000337207.5_Missense_Mutation_p.I141M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.I158M|ANKRD44_ENST00000450567.1_Missense_Mutation_p.I141M|ANKRD44_ENST00000539527.1_Missense_Mutation_p.I94M|ANKRD44_ENST00000409153.1_Missense_Mutation_p.I166M|ANKRD44_ENST00000409919.1_Missense_Mutation_p.I166M			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	166							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAAATGCATTGATATTTGCCC	0.438													34	108					0	0	0	0	C	197990157	G	C	197990157	3	2	107	1	0	0	0	0	1	0	0	0	671	1280	45	2	2420	2	ANKRD44	2	197990157	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	31	197990157	45209216	15	20529			1	28		6	5	627	N	G	1.966794e-12
ANKRD44	91526	broad.mit.edu	37	chr2	197990618	197990618	+	Silent	SNP	G	G	A																															gtgcgcccccctcggtcggaGacattgacactgctcagcag																										TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990618G>A	ENST00000328737.2	-	5	406	c.330C>T	c.(328-330)gtC>gtT	p.V110V	ANKRD44_ENST00000337207.5_Silent_p.V110V|ANKRD44_ENST00000282272.8_Silent_p.V127V|ANKRD44_ENST00000450567.1_Silent_p.V110V|ANKRD44_ENST00000539527.1_Silent_p.V63V|ANKRD44_ENST00000409153.1_Silent_p.V135V|ANKRD44_ENST00000409919.1_Silent_p.V135V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	135							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTCGGTCGGAGACATTGACAC	0.557													29	125					0	0	0	0	A	197990618	G	A	197990618	2	1	107	1	0	0	0	0	0	0	0	1	671	929	33	2		2	ANKRD44	2	197990618	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08	461	197990618	45208755	16	20530	172	2	1	28		6	5	627	N	G	1.966794e-12
ANKRD44	91526	broad.mit.edu	37	chr2	197990624	197990624	+	Silent	SNP	G	G	A																															ccccctcggtcggagacattGacactgctcagcaggggaat																										TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990624G>A	ENST00000328737.2	-	5	400	c.324C>T	c.(322-324)gtC>gtT	p.V108V	ANKRD44_ENST00000337207.5_Silent_p.V108V|ANKRD44_ENST00000282272.8_Silent_p.V125V|ANKRD44_ENST00000450567.1_Silent_p.V108V|ANKRD44_ENST00000539527.1_Silent_p.V61V|ANKRD44_ENST00000409153.1_Silent_p.V133V|ANKRD44_ENST00000409919.1_Silent_p.V133V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	133							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGGAGACATTGACACTGCTCA	0.547													32	128					0	0	0	0	A	197990624	G	A	197990624	2	1	107	1	0	0	0	0	0	0	0	1	671	1277	45	2		2	ANKRD44	2	197990624	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08	6	197990624	45208749	17	20531	172	2	1	28		6	5	627	N	G	1.966794e-12
ANKRD44	91526	broad.mit.edu	37	chr2	197990663	197990663	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatcacttctgcacatttGacagccttgttggctgctgc	7	14	9	11	0	2	2	1	2	1	0	2	2	2	2	1	1	4	4	1	1	0	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990663G>A	ENST00000328737.2	-	5	361	c.285C>T	c.(283-285)gtC>gtT	p.V95V	ANKRD44_ENST00000337207.5_Silent_p.V95V|ANKRD44_ENST00000282272.8_Silent_p.V112V|ANKRD44_ENST00000450567.1_Silent_p.V95V|ANKRD44_ENST00000539527.1_Silent_p.V48V|ANKRD44_ENST00000409153.1_Silent_p.V120V|ANKRD44_ENST00000409919.1_Silent_p.V120V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	120							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTGCACATTTGACAGCCTTGT	0.552													41	138					0	0	0	0	A	197990663	G	A	197990663	2	1	107	1	0	0	0	0	0	0	0	1	671	1277	45	2		2	ANKRD44	2	197990663	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08	39	197990663	45208710	18	20532			1	28		6	5	627	N	G	1.966794e-12
ANKRD44	91526	broad.mit.edu	37	chr2	197990752	197990752	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgcttaatcaaaacctGtactgcttcctacaacaaaa	15	11	5	10	0	1	1	1	1	0	0	2	1	2	1	2	0	6	3	2	0	8	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990752G>A	ENST00000328737.2	-	5	272	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	ANKRD44_ENST00000337207.5_Nonsense_Mutation_p.Q66*|ANKRD44_ENST00000282272.8_Nonsense_Mutation_p.Q83*|ANKRD44_ENST00000450567.1_Nonsense_Mutation_p.Q66*|ANKRD44_ENST00000539527.1_Nonsense_Mutation_p.Q19*|ANKRD44_ENST00000409153.1_Nonsense_Mutation_p.Q91*|ANKRD44_ENST00000409919.1_Nonsense_Mutation_p.Q91*			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	91							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCAAAACCTGTACTGCTTCC	0.463													27	94					0	0	0	0	A	197990752	G	A	197990752	4	1	107	1	0	0	0	0	0	1	0	0	671	1386	48	4	2651	4	ANKRD44	2	197990752	Nonsense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	89	197990752	45208621	19	20533			1	28		6	5	627	N	G	1.966794e-12
THAP4	51078	broad.mit.edu	37	chr2	242542453	242542453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgaatgaagccacactctCtgtgcatcggcttgcgcgtg	7	9	13	12	4	1	1	0	1	1	0	3	2	1	1	1	2	3	2	1	2	2	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:242542453C>G	ENST00000407315.1	-	4	1873	c.1442G>C	c.(1441-1443)aGa>aCa	p.R481T	THAP4_ENST00000402545.1_Missense_Mutation_p.R69T|THAP4_ENST00000402136.1_Missense_Mutation_p.R69T	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	481							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCCACACTCTCTGTGCATCGG	0.632													20	47					0	0	0	0	G	242542453	C	G	242542453	3	3	107	1	0	0	0	0	1	0	0	0	15940	913	32	2	303	2	THAP4	2	242542453	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	44551701	242542453	656920	20	20534											
CRTAP	10491	broad.mit.edu	37	chr3	33174068	33174068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaacgacctgaagaatgcagCcccctgtgcagtcagctatc	11	7	10	13	1	1	2	1	1	0	1	2	4	1	2	3	0	5	3	3	0	4	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:33174068C>A	ENST00000320954.6	+	5	1043	c.944C>A	c.(943-945)gCc>gAc	p.A315D	CRTAP_ENST00000449224.1_Missense_Mutation_p.A272D|CRTAP_ENST00000485310.1_3'UTR	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	315						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AAGAATGCAGCCCCCTGTGCA	0.473													57	31					7.47603e-22	1.25109e-21	1	0	A	33174068	C	A	33174068	3	1	107	1	0	0	0	0	1	0	0	0	3928	739	26	4	962	4	CRTAP	3	33174068	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08		33174068	164848362	21	20535											
NKTR	4820	broad.mit.edu	37	chr3	42660540	42660540	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggccttgggaaaacaactggGaagaagttatgttataaagg	15	9	13	4	0	0	1	0	0	0	1	0	3	0	3	1	4	2	2	1	4	9	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:42660540G>C	ENST00000232978.8	+	4	350	c.162G>C	c.(160-162)ggG>ggC	p.G54G	RP4-613B23.1_ENST00000445452.1_RNA|NKTR_ENST00000442970.1_Silent_p.G54G|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	54	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAACAACTGGGAAGAAGTTAT	0.348													10	28					0	0	0	0	C	42660540	G	C	42660540	2	2	107	1	0	0	0	0	0	0	0	1	10518	1161	41	2		2	NKTR	3	42660540	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08	9486472	42660540	155361890	22	20536											
PARP3	10039	broad.mit.edu	37	chr3	51979210	51979210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccatcaattcccctgaGcttctgcaggccaagaagga	10	7	9	15	1	2	2	1	1	1	1	3	3	3	3	5	2	2	2	5	2	3	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:51979210G>T	ENST00000417220.2	+	7	1319	c.831G>T	c.(829-831)gaG>gaT	p.E277D	PARP3_ENST00000431474.1_Missense_Mutation_p.E277D|PARP3_ENST00000398755.3_Missense_Mutation_p.E284D			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	277	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATTCCCCTGAGCTTCTGCAGG	0.627													29	14					9.39395e-14	1.50059e-13	1	0	T	51979210	G	T	51979210	3	4	107	1	0	0	0	0	1	0	0	0	11533	962	34	4	874	4	PARP3	3	51979210	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	9318670	51979210	146043220	23	20537											
PROS1	5627	broad.mit.edu	37	chr3	93603601	93603601	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgaaattgagcaattccaGaaccaggatagtaggagccc	14	8	11	8	0	0	3	0	2	0	1	1	5	1	5	3	2	3	2	3	2	5	4	rs5017714		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:93603601G>C	ENST00000394236.3	-	12	1779	c.1463C>G	c.(1462-1464)tCt>tGt	p.S488C	PROS1_ENST00000407433.1_Missense_Mutation_p.S357C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	488	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AGCAATTCCAGAACCAGGATA	0.313													7	40					0	0	0	0	C	93603601	G	C	93603601	3	2	107	1	0	0	0	0	1	0	0	0	12638	942	33	2	583	2	PROS1	3	93603601	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	41624391	93603601	104418829	24	20538											
C3orf17	25871	broad.mit.edu	37	chr3	112724658	112724658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtatctgtagcactcttccGagtcccttgagagaactgct	8	12	10	11	1	2	2	0	1	2	1	4	4	4	2	2	1	3	4	2	1	3	4	rs143719239	byFrequency	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:112724658G>A	ENST00000314400.5	-	9	1620	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	C3orf17_ENST00000383675.2_Missense_Mutation_p.R407W|C3orf17_ENST00000393857.2_Missense_Mutation_p.R341W	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	477						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GCACTCTTCCGAGTCCCTTGA	0.433													8	62					0	0	0	0	A	112724658	G	A	112724658	3	1	107	1	0	0	0	0	1	0	0	0	2230	1057	37	1	278	1	C3orf17	3	112724658	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	19121057	112724658	85297772	25	20539											
CLSTN2	64084	broad.mit.edu	37	chr3	140281716	140281716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctaccgcaactggcgtcCggcttcccttgaggcccggc	4	7	12	18	5	0	1	0	1	0	0	2	1	2	1	5	4	2	3	5	4	2	3	rs139860767		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:140281716C>T	ENST00000458420.3	+	14	2466	c.2276C>T	c.(2275-2277)cCg>cTg	p.P759L		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	759					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.P759L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AACTGGCGTCCGGCTTCCCTT	0.567										HNSCC(16;0.037)			12	55					0	0	0	0	T	140281716	C	T	140281716	3	4	107	1	0	0	0	0	1	0	0	0	3592	652	23	1	2330	1	CLSTN2	3	140281716	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	27557058	140281716	57740714	26	20540											
ZIC4	84107	broad.mit.edu	37	chr3	147113999	147113999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaagcgccaggaccgtgggGcgcagcgaggttcaccgtca	9	4	16	12	5	2	0	2	0	0	0	2	3	2	1	3	4	2	2	3	4	1	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:147113999G>A	ENST00000383075.3	-	3	840	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	ZIC4_ENST00000525172.2_Missense_Mutation_p.P160S|ZIC4_ENST00000484399.1_Missense_Mutation_p.P110S|ZIC4_ENST00000473123.1_Missense_Mutation_p.P110S|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.P148S	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	110						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGACCGTGGGGCGCAGCGAGG	0.706													9	52					0	0	0	0	A	147113999	G	A	147113999	3	1	107	1	0	0	0	0	1	0	0	0	17776	1203	42	4	688	4	ZIC4	3	147113999	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	6832283	147113999	50908431	27	20541											
SERPINI1	5274	broad.mit.edu	37	chr3	167512409	167512409	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctttattttctttttaggGgaatttagtgatggctccaa	8	18	9	6	0	1	1	0	1	1	0	2	2	2	2	2	3	0	1	2	3	5	9			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:167512409G>T	ENST00000295777.5	+	5	1109	c.676_splice	c.e5-1	p.G226_splice	SERPINI1_ENST00000446050.2_Splice_Site_p.G226_splice	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	226					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TCTTTTTAGGGGAATTTAGTG	0.403													17	30					2.35188e-11	3.68511e-11	1	0	T	167512409	G	T	167512409	5	4	107	1	0	0	0	0	0	0	1	0	14205	1246	43	4	692	4	SERPINI1	3	167512409	Splice_Site	SNP	G	TCGA-CN-6994-01A-11D-1912-08	20398410	167512409	30510021	28	20542											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	67					0	0	0	0	A	178936091	G	A	178936091	3	1	107	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	11423682	178936091	19086339	29	20543											
WDR19	57728	broad.mit.edu	37	chr4	39233472	39233472	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgaggctgcctggaatGagttggccagagcttgtcta	9	11	14	7	0	1	4	0	3	1	1	1	5	1	5	2	3	2	3	2	3	2	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:39233472G>T	ENST00000399820.3	+	18	2192	c.2038G>T	c.(2038-2040)Gag>Tag	p.E680*	WDR19_ENST00000288634.7_Nonsense_Mutation_p.E520*|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	680					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TGCCTGGAATGAGTTGGCCAG	0.433													30	35					2.61193e-14	4.19958e-14	1	0	T	39233472	G	T	39233472	4	4	107	1	0	0	0	0	0	1	0	0	17375	1291	45	2	2108	2	WDR19	4	39233472	Nonsense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08		39233472	151920804	30	20544											
ANKRD17	26057	broad.mit.edu	37	chr4	73956816	73956816	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagggggtggtctaatagCaggggtttccattttaggag	9	12	16	4	0	1	1	0	1	1	0	2	2	2	2	1	6	1	2	1	6	3	5			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:73956816C>G	ENST00000358602.4	-	29	6645	c.6529G>C	c.(6529-6531)Gct>Cct	p.A2177P	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2064P|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1926P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2177					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTCTAATAGCAGGGGTTTCC	0.507													35	132					0	0	0	0	G	73956816	C	G	73956816	3	3	107	1	0	0	0	0	1	0	0	0	646	710	25	4	1306	4	ANKRD17	4	73956816	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	34723344	73956816	117197460	31	20545											
SLC25A31	83447	broad.mit.edu	37	chr4	128651737	128651737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaaaaagaaggcagaaaagCggctgtttgacgcctcatcc	14	6	11	10	3	1	3	1	1	0	2	2	4	2	3	2	2	1	3	2	2	5	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:128651737C>T	ENST00000281154.4	+	1	205	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	13					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GGCAGAAAAGCGGCTGTTTGA	0.567													11	64					0	0	0	0	T	128651737	C	T	128651737	3	4	107	1	0	0	0	0	1	0	0	0	14583	759	27	1	39	1	SLC25A31	4	128651737	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	54694921	128651737	62502539	32	20546											
ZNF827	152485	broad.mit.edu	37	chr4	146813423	146813423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggatttgagattgtccttgCgagcacaccggaatggacag	10	9	14	8	2	0	1	0	1	0	1	1	6	1	4	2	3	2	1	2	3	1	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:146813423C>T	ENST00000508784.1	-	3	1465	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	ZNF827_ENST00000513320.1_Missense_Mutation_p.R63H|ZNF827_ENST00000379448.4_Missense_Mutation_p.R413H			Q17R98	ZN827_HUMAN	zinc finger protein 827	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ATTGTCCTTGCGAGCACACCG	0.512													25	30					0	0	0	0	T	146813423	C	T	146813423	3	4	107	1	0	0	0	0	1	0	0	0	18273	768	27	1	2039	1	ZNF827	4	146813423	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	18161686	146813423	44340853	33	20547											
TMEM184C	55751	broad.mit.edu	37	chr4	148545966	148545966	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcatagtggatagctttGaaatatcccggaattgcaat	12	15	8	6	1	1	1	1	1	0	0	2	3	2	3	1	2	2	2	1	2	6	7			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:148545966G>C	ENST00000296582.3	+	4	877	c.303G>C	c.(301-303)ttG>ttC	p.L101F	TMEM184C_ENST00000508208.1_Missense_Mutation_p.L101F	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	101						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						GGATAGCTTTGAAATATCCCG	0.333													15	30					0	0	0	0	C	148545966	G	C	148545966	3	2	107	1	0	0	0	0	1	0	0	0	16200	1281	45	2	317	2	TMEM184C	4	148545966	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	1732543	148545966	42608310	34	20548											
FHDC1	85462	broad.mit.edu	37	chr4	153896099	153896099	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgctgaccgggagctgctGaccttcttggagagctccac	6	10	12	13	1	2	3	0	2	2	1	3	5	3	4	3	2	4	4	3	2	0	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:153896099G>C	ENST00000511601.1	+	12	1844	c.1656G>C	c.(1654-1656)ctG>ctC	p.L552L	FHDC1_ENST00000260008.3_Silent_p.L552L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	552					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGGAGCTGCTGACCTTCTTGG	0.716													3	29					0	0	0	0	C	153896099	G	C	153896099	2	2	107	1	0	0	0	0	0	0	0	1	5921	1277	45	2		2	FHDC1	4	153896099	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08	5350133	153896099	37258177	35	20549											
EXOC3	11336	broad.mit.edu	37	chr5	453741	453741	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtccgccgtgaccccacCttgctggtctcagttgtcag	5	11	10	15	2	2	1	2	1	1	0	4	1	3	1	5	1	1	2	5	1	0	2	rs3822755	by1000genomes	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:453741C>T	ENST00000512944.1	+	4	810	c.621C>T	c.(619-621)acC>acT	p.T207T	EXOC3_ENST00000315013.5_Silent_p.T207T	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	218					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGACCCCACCTTGCTGGTCT	0.547													38	89					0	0	0	0	T	453741	C	T	453741	2	4	107	1	0	0	0	0	0	0	0	1	5340	668	24	4		4	EXOC3	5	453741	Silent	SNP	C	TCGA-CN-6994-01A-11D-1912-08		453741	180461519	36	20550											
KIAA0947	23379	broad.mit.edu	37	chr5	5461339	5461339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacattgaaaccagtttttCttcctcttctaccttggtag	8	17	6	10	0	3	2	0	2	3	0	4	2	4	2	3	1	2	2	3	1	3	8			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:5461339C>T	ENST00000296564.7	+	13	2114	c.1892C>T	c.(1891-1893)tCt>tTt	p.S631F		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	631										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACCAGTTTTTCTTCCTCTTCT	0.413													17	96					0	0	0	0	T	5461339	C	T	5461339	3	4	107	1	0	0	0	0	1	0	0	0	8253	913	32	2	1942	2	KIAA0947	5	5461339	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	5007598	5461339	175453921	37	20551											
PRLR	5618	broad.mit.edu	37	chr5	35070274	35070274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccatgcactccagtatcCatggtctggtttgcagcgaa	9	11	9	12	1	1	0	0	0	1	0	4	1	4	0	3	2	3	4	3	2	2	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:35070274C>T	ENST00000382002.5	-	7	1063	c.637G>A	c.(637-639)Gga>Aga	p.G213R	PRLR_ENST00000513753.1_Missense_Mutation_p.G213R|PRLR_ENST00000348262.3_Missense_Mutation_p.G213R|PRLR_ENST00000310101.5_Missense_Mutation_p.G213R|PRLR_ENST00000511486.1_Missense_Mutation_p.G112R|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000342362.5_Missense_Mutation_p.G112R|PRLR_ENST00000542609.1_Missense_Mutation_p.G213R|PRLR_ENST00000397391.3_Missense_Mutation_p.G142R|PRLR_ENST00000231423.3_Missense_Mutation_p.G213R	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	213	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTCCAGTATCCATGGTCTGGT	0.448													14	55					0	0	0	0	T	35070274	C	T	35070274	3	4	107	1	0	0	0	0	1	0	0	0	12611	603	21	4	1247	4	PRLR	5	35070274	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	29608935	35070274	145844986	38	20552											
CCL28	56477	broad.mit.edu	37	chr5	43382119	43382119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttaacagtatggttgtgcGggctgacacagattcttctg	8	13	12	8	1	2	2	0	1	2	1	2	2	2	2	0	2	2	4	0	2	2	5			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:43382119G>T	ENST00000361115.4	-	3	301	c.227C>A	c.(226-228)cCg>cAg	p.P76Q	CCL28_ENST00000513525.1_Missense_Mutation_p.P29Q|CCL28_ENST00000537013.1_Missense_Mutation_p.R109S	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	76					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						ATGGTTGTGCGGGCTGACACA	0.403													4	104					0.000602214	0.000866344	1	0	T	43382119	G	T	43382119	3	4	107	1	0	0	0	0	1	0	0	0	2927	1116	39	3	160	3	CCL28	5	43382119	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	8311845	43382119	137533141	39	20553											
ISL1	3670	broad.mit.edu	37	chr5	50685739	50685739	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcatcatgatgaagcaactCcagcagcagcagcccaatga	15	5	9	12	0	1	3	1	3	0	0	2	3	2	3	2	0	7	5	2	0	3	0			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:50685739C>G	ENST00000230658.7	+	4	1323	c.738C>G	c.(736-738)ctC>ctG	p.L246L	ISL1_ENST00000511384.1_Silent_p.L246L|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	246	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGAAGCAACTCCAGCAGCAGC	0.582													6	22					0	0	0	0	G	50685739	C	G	50685739	2	3	107	1	0	0	0	0	0	0	0	1	7909	842	30	2		2	ISL1	5	50685739	Silent	SNP	C	TCGA-CN-6994-01A-11D-1912-08	7303620	50685739	130229521	40	20554											
SLCO6A1	133482	broad.mit.edu	37	chr5	101813510	101813510	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaagacaggtattttgattgGaatgatataccactgctctg	13	13	9	6	0	1	3	0	2	1	1	1	4	1	4	1	2	2	2	1	2	5	6			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:101813510G>C	ENST00000506729.1	-	3	843	c.672C>G	c.(670-672)ttC>ttG	p.F224L	SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.F224L|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000389019.3_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	224						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATTTTGATTGGAATGATATAC	0.353													21	76					0	0	0	0	C	101813510	G	C	101813510	3	2	107	1	0	0	0	0	1	0	0	0	14820	1165	41	2	1531	2	SLCO6A1	5	101813510	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	51127771	101813510	79101750	41	20555											
PCDHA1	56147	broad.mit.edu	37	chr5	140167279	140167279	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtattcgtgaaggagaacaaCccgccgggctgccacatctt	10	8	11	12	3	1	2	0	1	1	1	2	3	1	2	3	2	3	2	3	2	4	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:140167279C>T	ENST00000504120.2	+	1	1404	c.1404C>T	c.(1402-1404)aaC>aaT	p.N468N	PCDHA1_ENST00000378133.3_Silent_p.N468N|PCDHA1_ENST00000394633.3_Silent_p.N468N	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAACAACCCGCCGGGCT	0.667													51	51					0	0	0	0	T	140167279	C	T	140167279	2	4	107	1	0	0	0	0	0	0	0	1	11590	506	18	4		4	PCDHA1	5	140167279	Silent	SNP	C	TCGA-CN-6994-01A-11D-1912-08	38353769	140167279	40747981	42	20556											
PCDH1	5097	broad.mit.edu	37	chr5	141244696	141244696	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcctctgagatgttagccatCccatcttgatgagtcactag	9	13	8	11	0	3	3	1	3	2	1	5	4	5	3	3	0	1	1	3	0	2	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:141244696C>G	ENST00000287008.3	-	3	1347	c.1200G>C	c.(1198-1200)ggG>ggC	p.G400G	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Silent_p.G400G|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.G378G|PCDH1_ENST00000456271.1_Silent_p.G388G	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	400	Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGTTAGCCATCCCATCTTGAT	0.567													35	91					0	0	0	0	G	141244696	C	G	141244696	2	3	107	1	0	0	0	0	0	0	0	1	11577	842	30	2		2	PCDH1	5	141244696	Silent	SNP	C	TCGA-CN-6994-01A-11D-1912-08	1077417	141244696	39670564	43	20557											
FLT4	2324	broad.mit.edu	37	chr5	180038443	180038443	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgccctcttctgagctctGagagctgcgcggggccatgc	4	9	14	14	2	3	2	0	2	3	1	3	3	3	2	2	2	5	3	2	2	0	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:180038443G>C	ENST00000261937.6	-	27	3652	c.3574C>G	c.(3574-3576)Cag>Gag	p.Q1192E	FLT4_ENST00000502649.1_Missense_Mutation_p.Q1192E|FLT4_ENST00000393347.3_Missense_Mutation_p.Q1192E	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1192					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGAGCTCTGAGAGCTGCGC	0.672													5	78					0	0	0	0	C	180038443	G	C	180038443	3	2	107	1	0	0	0	0	1	0	0	0	5989	1299	45	2	541	2	FLT4	5	180038443	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	38793747	180038443	876817	44	20558											
NEU1	4758	broad.mit.edu	37	chr6	31828383	31828383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgatgaggcggcccttccGtggctcccgctgtttctgtg	3	11	13	14	4	1	1	0	1	1	0	3	2	3	1	3	3	0	3	3	3	0	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:31828383G>A	ENST00000375631.4	-	4	760	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	211						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	CGGCCCTTCCGTGGCTCCCGC	0.607													21	79					0	0	0	0	A	31828383	G	A	31828383	3	1	107	1	0	0	0	0	1	0	0	0	10411	1144	40	1	628	1	NEU1	6	31828383	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08		31828383	139286684	45	20559											
NFYA	4800	broad.mit.edu	37	chr6	41065110	41065110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaggatccaaaccaagcCgatgaagaagcaatgacaca	17	5	8	11	1	1	3	0	2	1	1	2	5	2	4	3	1	3	1	3	1	6	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:41065110C>T	ENST00000341376.6	+	10	1206	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Silent_p.A306A	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	335					transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAACCAAGCCGATGAAGAAG	0.453													15	56					0	0	0	0	T	41065110	C	T	41065110	2	4	107	1	0	0	0	0	0	0	0	1	10459	639	23	1		1	NFYA	6	41065110	Silent	SNP	C	TCGA-CN-6994-01A-11D-1912-08	9236727	41065110	130049957	46	20560											
TRERF1	55809	broad.mit.edu	37	chr6	42236845	42236845	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtgcagcacctgggccaTattgttgacctgaattcgca	9	11	11	10	1	0	2	0	2	0	0	1	2	0	2	3	1	2	4	3	1	2	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:42236845T>C	ENST00000541110.1	-	5	1052	c.484A>G	c.(484-486)Atg>Gtg	p.M162V	TRERF1_ENST00000372917.4_Missense_Mutation_p.M162V|TRERF1_ENST00000372922.4_Missense_Mutation_p.M162V|TRERF1_ENST00000340840.2_Missense_Mutation_p.M162V|TRERF1_ENST00000354325.2_Missense_Mutation_p.M162V			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	162					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACCTGGGCCATATTGTTGACC	0.572													4	176					0	0	0	0	C	42236845	T	C	42236845	3	2	107	1	0	0	0	0	1	0	0	0	16570	1406	49	5	3174	5	TRERF1	6	42236845	Missense_Mutation	SNP	T	TCGA-CN-6994-01A-11D-1912-08	1171735	42236845	128878222	47	20561											
SIM1	6492	broad.mit.edu	37	chr6	100896434	100896434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagcttgatctccgtgaCggcgctgggaggcagcgagt	6	9	17	9	4	1	2	0	2	1	0	2	4	1	3	1	3	2	4	1	3	1	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:100896434C>T	ENST00000369208.3	-	7	1446	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	SIM1_ENST00000262901.4_Missense_Mutation_p.V222I			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	222	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATCTCCGTGACGGCGCTGGGA	0.602													8	7					0	0	0	0	T	100896434	C	T	100896434	3	4	107	1	0	0	0	0	1	0	0	0	14411	536	19	1	1660	1	SIM1	6	100896434	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	58659589	100896434	70218633	48	20562											
HACE1	57531	broad.mit.edu	37	chr6	105232953	105232953	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaataacatcctgacaatctGcactggcttcctgtctccct	10	12	5	14	0	2	1	0	1	2	0	5	1	4	1	3	1	2	2	3	1	3	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:105232953G>C	ENST00000262903.4	-	12	1592	c.1316C>G	c.(1315-1317)gCa>gGa	p.A439G	HACE1_ENST00000369125.2_Missense_Mutation_p.A439G	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	439					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTGACAATCTGCACTGGCTTC	0.478													8	37					0	0	0	0	C	105232953	G	C	105232953	3	2	107	1	0	0	0	0	1	0	0	0	6990	1319	46	4	1465	4	HACE1	6	105232953	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	4336519	105232953	65882114	49	20563											
LPA	4018	broad.mit.edu	37	chr6	160999635	160999635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgattctgtcactggacatCgtgtcaggttgcagtactcc	7	13	10	11	2	3	0	2	0	1	0	6	2	4	1	1	2	2	3	1	2	1	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:160999635C>A	ENST00000447678.1	-	28	4511	c.4391G>T	c.(4390-4392)cGa>cTa	p.R1464L	LPA_ENST00000316300.5_Missense_Mutation_p.R1464L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3972	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CACTGGACATCGTGTCAGGTT	0.527													14	68					3.27435e-08	5.03432e-08	1	0	A	160999635	C	A	160999635	3	1	107	1	0	0	0	0	1	0	0	0	8967	884	31	3	1783	3	LPA	6	160999635	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	55766682	160999635	10115432	50	20564											
DGKB	1607	broad.mit.edu	37	chr7	14188824	14188824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accggtttttggaggcgggcCcatcagcattggggcttggt	5	11	16	9	2	1	0	1	0	0	0	1	1	1	1	2	7	1	3	2	7	0	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:14188824C>G	ENST00000403951.2	-	26	2766	c.2347G>C	c.(2347-2349)Ggc>Cgc	p.G783R	DGKB_ENST00000402815.1_Missense_Mutation_p.G782R|DGKB_ENST00000444700.2_Missense_Mutation_p.G764R|DGKB_ENST00000258767.5_Missense_Mutation_p.G783R|DGKB_ENST00000407950.1_Missense_Mutation_p.G775R|DGKB_ENST00000399322.3_Missense_Mutation_p.G783R			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	783					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GGAGGCGGGCCCATCAGCATT	0.393													10	101					0	0	0	0	G	14188824	C	G	14188824	3	3	107	1	0	0	0	0	1	0	0	0	4503	623	22	4	71	4	DGKB	7	14188824	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08		14188824	144949839	51	20565											
AQP1	358	broad.mit.edu	37	chr7	30951587	30951587	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgagttcctggccacGaccctctttgtcttcatcag	5	12	10	14	2	4	0	2	0	2	0	5	2	5	0	4	2	0	1	4	2	0	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:30951587G>T	ENST00000311813.4	+	1	118	c.63G>T	c.(61-63)acG>acT	p.T21T	AQP1_ENST00000434909.2_Intron|AQP1_ENST00000509504.1_Intron	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				TCCTGGCCACGACCCTCTTTG	0.622													16	37					3.45872e-05	5.12557e-05	1	0	T	30951587	G	T	30951587	2	4	107	1	0	0	0	0	0	0	0	1	823	1045	37	3		3	AQP1	7	30951587	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08	16762763	30951587	128187076	52	20566											
PKD1L1	168507	broad.mit.edu	37	chr7	47915768	47915768	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcccatggtacaaagtGtgtttggaggtgtttcctat	7	16	10	8	0	1	0	0	0	1	0	4	1	3	1	2	3	1	3	2	3	3	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:47915768G>A	ENST00000289672.2	-	23	3761	c.3711C>T	c.(3709-3711)caC>caT	p.H1237H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1237	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGTACAAAGTGTGTTTGGAGG	0.418													7	36					0	0	0	0	A	47915768	G	A	47915768	2	1	107	1	0	0	0	0	0	0	0	1	12036	1368	48	4		4	PKD1L1	7	47915768	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08	16964181	47915768	111222895	53	20567											
CCDC146	57639	broad.mit.edu	37	chr7	76891594	76891594	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatgcacttaggcaaacTcaagcactgcatcaaaggct	13	8	10	10	0	2	0	2	0	0	0	2	1	2	1	0	3	4	5	0	3	4	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:76891594T>C	ENST00000285871.4	+	9	1270	c.1143T>C	c.(1141-1143)acT>acC	p.T381T	CCDC146_ENST00000431197.1_Silent_p.T127T|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	381										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TTAGGCAAACTCAAGCACTGC	0.378													11	51					0	0	0	0	C	76891594	T	C	76891594	2	2	107	1	0	0	0	0	0	0	0	1	2805	1538	54	5		5	CCDC146	7	76891594	Silent	SNP	T	TCGA-CN-6994-01A-11D-1912-08	28975826	76891594	82247069	54	20568											
PIK3CG	5294	broad.mit.edu	37	chr7	106508473	106508473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagcggcagctcacggCgctgattggctatgacgtca	7	9	12	13	4	2	2	2	2	0	0	3	2	3	2	1	3	2	4	1	3	1	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:106508473C>T	ENST00000359195.3	+	2	777	c.467C>T	c.(466-468)gCg>gTg	p.A156V	PIK3CG_ENST00000496166.1_Missense_Mutation_p.A156V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A156V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	156					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAGCTCACGGCGCTGATTGGC	0.682													4	25					0	0	0	0	T	106508473	C	T	106508473	3	4	107	1	0	0	0	0	1	0	0	0	11988	768	27	1	469	1	PIK3CG	7	106508473	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	29616879	106508473	52630190	55	20569											
KCND2	3751	broad.mit.edu	37	chr7	119914945	119914945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcagtatttctttgacCgtgacccagacatcttccgc	8	12	7	14	2	3	3	1	2	2	1	4	3	4	3	3	0	1	2	3	0	1	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:119914945C>G	ENST00000331113.4	+	1	1224	c.259C>G	c.(259-261)Cgt>Ggt	p.R87G		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	87	Interaction with KCNIP1 (By similarity).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTTCTTTGACCGTGACCCAGA	0.527													39	119					0	0	0	0	G	119914945	C	G	119914945	3	3	107	1	0	0	0	0	1	0	0	0	8072	652	23	3	261	3	KCND2	7	119914945	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	13406472	119914945	39223718	56	20570											
NUP205	23165	broad.mit.edu	37	chr7	135272382	135272382	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgattcacatgagtatgcaGatgggtaatgaaccccccat	13	10	9	9	0	1	4	1	3	0	1	1	4	1	4	3	1	2	3	3	1	3	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:135272382G>C	ENST00000285968.6	+	9	1304	c.1278G>C	c.(1276-1278)caG>caC	p.Q426H	NUP205_ENST00000440390.2_Missense_Mutation_p.Q220H	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	426					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGAGTATGCAGATGGGTAATG	0.373													6	45					0	0	0	0	C	135272382	G	C	135272382	3	2	107	1	0	0	0	0	1	0	0	0	10830	933	33	2	1312	2	NUP205	7	135272382	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	15357437	135272382	23866281	57	20571											
STC1	6781	broad.mit.edu	37	chr8	23702400	23702400	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgtctcctgttgaagtcAgctcgtgggtgtgtttgggc	3	14	16	8	2	2	1	1	1	1	0	4	1	2	1	1	2	2	3	1	2	1	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:23702400A>C	ENST00000290271.2	-	4	910	c.627T>G	c.(625-627)gcT>gcG	p.A209A	STC1_ENST00000524323.1_Silent_p.A140A	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	209					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGTTGAAGTCAGCTCGTGGGT	0.552													19	91					0	0	0	0	C	23702400	A	C	23702400	2	2	107	1	0	0	0	0	0	0	0	1	15365	175	7	5		5	STC1	8	23702400	Silent	SNP	A	TCGA-CN-6994-01A-11D-1912-08		23702400	122661622	58	20572											
SULF1	23213	broad.mit.edu	37	chr8	70515533	70515533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtctgtcctcaaacttctgGacccagaaaagccaggtaac	13	8	8	12	0	3	1	1	0	2	1	4	2	4	2	3	2	3	1	3	2	4	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:70515533G>A	ENST00000260128.4	+	11	1885	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.D390N|SULF1_ENST00000458141.2_Missense_Mutation_p.D390N|SULF1_ENST00000402687.4_Missense_Mutation_p.D390N	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	390					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAAACTTCTGGACCCAGAAAA	0.552													7	124					0	0	0	0	A	70515533	G	A	70515533	3	1	107	1	0	0	0	0	1	0	0	0	15460	1174	41	2	1194	2	SULF1	8	70515533	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	46813133	70515533	75848489	59	20573											
FABP12	646486	broad.mit.edu	37	chr8	82441795	82441795	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccatctgtactgatggTcacagtgggttttgccaaac	9	13	9	10	0	3	1	1	1	2	0	4	1	3	1	2	2	3	2	2	2	2	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:82441795T>C	ENST00000360464.4	-	2	186	c.124A>G	c.(124-126)Acc>Gcc	p.T42A	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	42							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						GTACTGATGGTCACAGTGGGT	0.383													17	87					0	0	0	0	C	82441795	T	C	82441795	3	2	107	1	0	0	0	0	1	0	0	0	5397	1667	58	5	308	5	FABP12	8	82441795	Missense_Mutation	SNP	T	TCGA-CN-6994-01A-11D-1912-08	11926262	82441795	63922227	60	20574											
SLC10A5	347051	broad.mit.edu	37	chr8	82606646	82606646	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaacccgcaaaatggcaTcagaaaaaactgtgtaactg	19	6	8	8	1	1	2	1	0	0	2	1	2	1	2	1	1	3	3	1	1	8	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:82606646T>G	ENST00000518568.1	-	1	1763	c.562A>C	c.(562-564)Atg>Ctg	p.M188L		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	188						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAAATGGCATCAGAAAAAAC	0.463													20	102					0	0	0	0	G	82606646	T	G	82606646	3	3	107	1	0	0	0	0	1	0	0	0	14465	1435	50	5	756	5	SLC10A5	8	82606646	Missense_Mutation	SNP	T	TCGA-CN-6994-01A-11D-1912-08	164851	82606646	63757376	61	20575											
LRRCC1	85444	broad.mit.edu	37	chr8	86048078	86048078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgacaagcagaagagtattCaaatagaacttctcaagcac	18	8	7	8	0	2	4	2	1	1	3	3	4	2	4	0	0	3	3	0	0	7	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:86048078C>G	ENST00000414626.2	+	13	3038	c.2149C>G	c.(2149-2151)Caa>Gaa	p.Q717E	LRRCC1_ENST00000360375.3_Missense_Mutation_p.Q737E			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	737					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GAAGAGTATTCAAATAGAACT	0.318													6	76					0	0	0	0	G	86048078	C	G	86048078	3	3	107	1	0	0	0	0	1	0	0	0	9090	827	29	2	2263	2	LRRCC1	8	86048078	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	3441432	86048078	60315944	62	20576											
ZFAT	57623	broad.mit.edu	37	chr8	135602519	135602519	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacaaccttaccaggatggTtggtcttgatatgtgacttt	9	14	10	8	0	1	2	0	2	1	0	1	3	1	3	2	3	2	2	2	3	3	5			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:135602519T>A	ENST00000520727.1	-	9	2818	c.2519A>T	c.(2518-2520)aAc>aTc	p.N840I	ZFAT_ENST00000520356.1_Missense_Mutation_p.N840I|ZFAT_ENST00000520214.1_Missense_Mutation_p.N840I|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Missense_Mutation_p.N840I|ZFAT_ENST00000523399.1_Missense_Mutation_p.N790I|ZFAT_ENST00000377838.3_Missense_Mutation_p.N852I	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACCAGGATGGTTGGTCTTGAT	0.308													17	102					0	0	0	0	A	135602519	T	A	135602519	3	1	107	1	0	0	0	0	1	0	0	0	17727	1725	60	5	1212	5	ZFAT	8	135602519	Missense_Mutation	SNP	T	TCGA-CN-6994-01A-11D-1912-08	49554441	135602519	10761503	63	20577											
CNTLN	54875	broad.mit.edu	37	chr9	17388167	17388167	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattctctaccagaacagctCtttagatctggtgaagatga	12	13	8	8	0	3	5	0	2	3	3	4	5	3	5	1	1	3	1	1	1	5	5			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:17388167C>G	ENST00000380647.3	+	14	2079	c.1995C>G	c.(1993-1995)ctC>ctG	p.L665L	CNTLN_ENST00000425824.1_Silent_p.L665L|CNTLN_ENST00000262360.5_Silent_p.L665L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	665						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CAGAACAGCTCTTTAGATCTG	0.358													14	101					0	0	0	0	G	17388167	C	G	17388167	2	3	107	1	0	0	0	0	0	0	0	1	3669	900	32	2		2	CNTLN	9	17388167	Silent	SNP	C	TCGA-CN-6994-01A-11D-1912-08		17388167	123825264	64	20578											
CCDC107	203260	broad.mit.edu	37	chr9	35661158	35661158	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagggacgacagctgaaggtCgactaaaacaaagtctgttt	14	8	12	7	2	1	1	0	1	1	0	2	5	1	2	0	2	2	2	0	2	4	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:35661158C>T	ENST00000426546.2	+	5	892	c.826C>T	c.(826-828)Cga>Tga	p.R276*	CCDC107_ENST00000421582.2_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000327351.2_3'UTR|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000378409.3_Nonsense_Mutation_p.R249*|CCDC107_ENST00000378407.3_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	276						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGAAGGTCGACTAAAACA	0.552													11	51					0	0	0	0	T	35661158	C	T	35661158	4	4	107	1	0	0	0	0	0	1	0	0	2767	876	31	1	844	1	CCDC107	9	35661158	Nonsense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	18272991	35661158	105552273	65	20579											
RNF20	56254	broad.mit.edu	37	chr9	104319876	104319876	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgttgactctgaagactCaggtaattaggatgagtaga	13	11	13	4	0	2	5	1	3	1	2	2	6	2	6	0	3	0	3	0	3	4	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:104319876C>T	ENST00000389120.3	+	16	2470	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	794					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCTGAAGACTCAGGTAATTAG	0.388													7	30					0	0	0	0	T	104319876	C	T	104319876	4	4	107	1	0	0	0	0	0	1	0	0	13558	827	29	2	2438	2	RNF20	9	104319876	Nonsense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	68658718	104319876	36893555	66	20580											
GRIN3A	116443	broad.mit.edu	37	chr9	104335610	104335610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatacatttagggagtctGctttcccattggtggtccgc	7	13	12	9	1	1	1	0	0	1	1	3	3	3	2	2	3	2	1	2	3	2	5			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:104335610G>T	ENST00000361820.3	-	9	3794	c.3194C>A	c.(3193-3195)gCa>gAa	p.A1065E		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1065					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TAGGGAGTCTGCTTTCCCATT	0.567													40	69					5.71845e-15	9.31615e-15	1	0	T	104335610	G	T	104335610	3	4	107	1	0	0	0	0	1	0	0	0	6833	1319	46	4	157	4	GRIN3A	9	104335610	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	15734	104335610	36877821	67	20581											
RAD23B	5887	broad.mit.edu	37	chr9	110073972	110073972	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttgtagtacatcgggTgattcttctcggtcaaacct	7	16	8	10	2	3	1	1	1	2	0	6	1	4	1	2	2	2	2	2	2	3	6			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:110073972T>C	ENST00000358015.3	+	5	858	c.507T>C	c.(505-507)ggT>ggC	p.G169G	RAD23B_ENST00000416373.2_Silent_p.G97G	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	169					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GTACATCGGGTGATTCTTCTC	0.294								Direct reversal of damage;Nucleotide excision repair (NER)					18	18					0	0	0	0	C	110073972	T	C	110073972	2	2	107	1	0	0	0	0	0	0	0	1	13065	1683	59	5		5	RAD23B	9	110073972	Silent	SNP	T	TCGA-CN-6994-01A-11D-1912-08	5738362	110073972	31139459	68	20582											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899838	112899838	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagaatttacgagcgccCgggctgtcctcactgtggtc	7	10	13	11	3	1	1	1	0	0	1	3	3	2	1	2	3	2	1	2	3	2	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:112899838C>A	ENST00000374530.3	+	8	2194	c.2014C>A	c.(2014-2016)Cgg>Agg	p.R672R	AKAP2_ENST00000510514.5_Silent_p.R672R|AKAP2_ENST00000434623.2_Silent_p.R530R|AKAP2_ENST00000374525.1_Silent_p.R530R|AKAP2_ENST00000259318.7_Silent_p.R441R|PALM2-AKAP2_ENST00000302798.7_Silent_p.R672R|AKAP2_ENST00000555236.1_Silent_p.R672R	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		441							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TACGAGCGCCCGGGCTGTCCT	0.532													43	79					6.4771e-29	1.09135e-28	1	0	A	112899838	C	A	112899838	2	1	107	1	0	0	0	0	0	0	0	1	11481	643	23	3		3	PALM2-AKAP2	9	112899838	Silent	SNP	C	TCGA-CN-6994-01A-11D-1912-08	2825866	112899838	28313593	69	20583											
TNC	3371	broad.mit.edu	37	chr9	117783505	117783505	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcttcatctcagcaaactgGattgagtgttcgtggccctt	8	13	10	10	1	2	1	2	1	1	0	4	2	2	2	1	2	3	3	1	2	1	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:117783505G>C	ENST00000350763.4	-	28	6948	c.6537C>G	c.(6535-6537)atC>atG	p.I2179M	TNC_ENST00000345230.3_Missense_Mutation_p.I1542M|TNC_ENST00000423613.2_Missense_Mutation_p.I1906M|TNC_ENST00000535648.1_Missense_Mutation_p.I1724M|TNC_ENST00000346706.3_Missense_Mutation_p.I1633M|TNC_ENST00000542877.1_Missense_Mutation_p.I1816M|TNC_ENST00000341037.4_Missense_Mutation_p.I1997M|TNC_ENST00000340094.3_Missense_Mutation_p.I1815M|TNC_ENST00000537320.1_Missense_Mutation_p.I1542M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2179	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGCAAACTGGATTGAGTGTT	0.478													15	80					0	0	0	0	C	117783505	G	C	117783505	3	2	107	1	0	0	0	0	1	0	0	0	16364	1164	41	2	72	2	TNC	9	117783505	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	4883667	117783505	23429926	70	20584											
NOTCH1	4851	broad.mit.edu	37	chr9	139418373	139418373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcccggcgttcttgcaggGggtgctgaggcacgggttgg	3	10	19	9	3	1	1	0	1	1	0	2	1	2	1	1	6	2	5	1	6	0	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:139418373G>T	ENST00000277541.6	-	3	274	c.199C>A	c.(199-201)Ccc>Acc	p.P67T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	67	EGF-like 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTCTTGCAGGGGGTGCTGAGG	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			5	7					0.000602214	0.000866344	1	0	T	139418373	G	T	139418373	3	4	107	1	0	0	0	0	1	0	0	0	10617	1232	43	4	7596	4	NOTCH1	9	139418373	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	21634868	139418373	1795058	71	20585											
RET	5979	broad.mit.edu	37	chr10	43609084	43609086	+	In_Frame_Del	DEL	GAG	GAG	-																															gcacctgcaactgcttccctGaggaggagaagtgcttctgc																								rs121913313		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:43609084_43609086delGAG	ENST00000355710.3	+	10	2072_2074	c.1840_1842delGAG	c.(1840-1842)del	p.E616del	RET_ENST00000340058.5_In_Frame_Del_p.E616del	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	616					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.F612_C620del(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTGCTTCCCTGAGGAGGAGAAGT	0.64		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				10	21	---	---	---	---					-	43609086	GAG	-	43609084	7	5	107	1	0	1	0	1	0	0	0	0	13317	1291	45	0	1878	0	RET	10	43609084	In_Frame_Del	DEL	GAG	TCGA-CN-6994-01A-11D-1912-08		43609084	91925663	72	20586											
PCDH15	65217	broad.mit.edu	37	chr10	55912867	55912867	+	Missense_Mutation	SNP	C	C	T																															taatataaattaccttcgctCtgcaggaggagcattatccg																										TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:55912867C>T	ENST00000373965.2	-	15	2192	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K	PCDH15_ENST00000361849.3_Missense_Mutation_p.E593K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E593K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E593K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E593K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E593K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E593K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E571K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E593K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E556K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E598K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.E204K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.E600K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E571K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	593	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TACCTTCGCTCTGCAGGAGGA	0.458										HNSCC(58;0.16)			12	45					0	0	0	0	T	55912867	C	T	55912867	3	4	107	1	0	0	0	0	1	0	0	0	11582	922	32	2	5789	2	PCDH15	10	55912867	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	12303783	55912867	79621880	73	20587	173	2									
PCDH15	65217	broad.mit.edu	37	chr10	55912869	55912869	+	Missense_Mutation	SNP	G	G	T																															atataaattaccttcgctctGcaggaggagcattatccgct																										TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:55912869G>T	ENST00000373965.2	-	15	2190	c.1796C>A	c.(1795-1797)gCa>gAa	p.A599E	PCDH15_ENST00000361849.3_Missense_Mutation_p.A592E|PCDH15_ENST00000320301.6_Missense_Mutation_p.A592E|PCDH15_ENST00000395438.1_Missense_Mutation_p.A592E|PCDH15_ENST00000373955.1_Missense_Mutation_p.A592E|PCDH15_ENST00000395446.1_Missense_Mutation_p.A592E|PCDH15_ENST00000395430.1_Missense_Mutation_p.A592E|PCDH15_ENST00000395433.1_Missense_Mutation_p.A570E|PCDH15_ENST00000437009.1_Missense_Mutation_p.A592E|PCDH15_ENST00000395432.2_Missense_Mutation_p.A555E|PCDH15_ENST00000414778.1_Missense_Mutation_p.A597E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A203E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A599E|PCDH15_ENST00000373957.3_Missense_Mutation_p.A570E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	592	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTTCGCTCTGCAGGAGGAGC	0.458										HNSCC(58;0.16)			12	47					5.16669e-11	8.04433e-11	1	0	T	55912869	G	T	55912869	3	4	107	1	0	0	0	0	1	0	0	0	11582	1319	46	4	5791	4	PCDH15	10	55912869	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	2	55912869	79621878	74	20588	173	2									
LRRTM3	347731	broad.mit.edu	37	chr10	68687032	68687032	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgattcttagttccaatAgaatctcctattttcttaac	11	17	4	9	0	3	2	0	1	3	1	5	2	4	2	2	0	2	2	2	0	6	8			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:68687032A>G	ENST00000361320.4	+	2	936	c.358A>G	c.(358-360)Aga>Gga	p.R120G	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	120						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TAGTTCCAATAGAATCTCCTA	0.388													25	99					0	0	0	0	G	68687032	A	G	68687032	3	3	107	1	0	0	0	0	1	0	0	0	9105	412	15	5	364	5	LRRTM3	10	68687032	Missense_Mutation	SNP	A	TCGA-CN-6994-01A-11D-1912-08	12774163	68687032	66847715	75	20589											
EXOC6	54536	broad.mit.edu	37	chr10	94708041	94708043	+	In_Frame_Del	DEL	GAA	GAA	-																															ttcctaacagggacatttttGaagaagataattacagcccc																										TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:94708041_94708043delGAA	ENST00000371552.4	+	14	1335_1337	c.1306_1308delGAA	c.(1306-1308)del	p.E437del	EXOC6_ENST00000443748.2_In_Frame_Del_p.E339del|EXOC6_ENST00000371547.4_In_Frame_Del_p.E458del|EXOC6_ENST00000260762.6_In_Frame_Del_p.E442del	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	442					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GGACATTTTTGAAGAAGATAATT	0.325													7	41	---	---	---	---					-	94708043	GAA	-	94708041	7	5	107	1	0	1	0	1	0	0	0	0	5345	1291	45	0	1465	0	EXOC6	10	94708041	In_Frame_Del	DEL	GAA	TCGA-CN-6994-01A-11D-1912-08	26021009	94708041	40826706	76	20590											
SORCS3	22986	broad.mit.edu	37	chr10	107012616	107012616	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttttcattcttccaccCaagaacctgacagagaggag	12	9	9	11	0	2	3	1	1	1	2	3	6	3	4	3	1	2	1	3	1	2	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:107012616C>A	ENST00000369701.3	+	23	3416	c.3189C>A	c.(3187-3189)ccC>ccA	p.P1063P		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1063						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTCTTCCACCCAAGAACCTGA	0.517													11	56					6.40141e-05	9.37349e-05	1	0	A	107012616	C	A	107012616	2	1	107	1	0	0	0	0	0	0	0	1	15020	581	21	4		4	SORCS3	10	107012616	Silent	SNP	C	TCGA-CN-6994-01A-11D-1912-08	12304575	107012616	28522131	77	20591											
ILK	3611	broad.mit.edu	37	chr11	6631166	6631166	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatctgttttctcttcctcaGattgatgaggacatgactgc	8	16	8	9	0	3	4	1	3	2	1	5	5	4	5	1	1	1	1	1	1	1	5			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:6631166G>A	ENST00000396751.2	+	10	1434		c.e10-1		RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000526711.1_Splice_Site|ILK_ENST00000299421.4_Splice_Site|ILK_ENST00000537806.1_Splice_Site|ILK_ENST00000528995.1_Splice_Site|ILK_ENST00000420936.2_Splice_Site	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase						cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CTCTTCCTCAGATTGATGAGG	0.512													6	103					0	0	0	0	A	6631166	G	A	6631166	5	1	107	1	0	0	0	0	0	0	1	0	7766	956	33	2	1016	2	ILK	11	6631166	Splice_Site	SNP	G	TCGA-CN-6994-01A-11D-1912-08		6631166	128375350	78	20592											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45926374	45926374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcaaggccgatgactccCaggaggccaaggtgacttct	9	7	13	12	2	2	2	1	2	1	0	3	4	3	3	3	4	0	0	3	4	2	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:45926374C>A	ENST00000395629.2	+	9	2182	c.1852C>A	c.(1852-1854)Cag>Aag	p.Q618K	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.Q628K			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	628	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CGATGACTCCCAGGAGGCCAA	0.612													13	213					2.27111e-07	3.47014e-07	1	0	A	45926374	C	A	45926374	3	1	107	1	0	0	0	0	1	0	0	0	9353	595	21	4	1916	4	MAPK8IP1	11	45926374	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	39295208	45926374	89080142	79	20593											
CEP57	9702	broad.mit.edu	37	chr11	95564382	95564382	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacatgcaaagcatacagAattcattacaaagcagtagt	18	8	8	7	0	1	1	1	0	0	1	1	2	1	2	0	1	5	4	0	1	6	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:95564382A>G	ENST00000325542.5	+	11	1703	c.1465A>G	c.(1465-1467)Aat>Gat	p.N489D	CEP57_ENST00000537677.1_Missense_Mutation_p.N462D|CEP57_ENST00000325486.5_Missense_Mutation_p.N463D|CEP57_ENST00000541150.1_Missense_Mutation_p.N480D	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	489	Mediates interaction with microtubules (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGCATACAGAATTCATTACA	0.343									Mosaic Variegated Aneuploidy Syndrome				17	8					0	0	0	0	G	95564382	A	G	95564382	3	3	107	1	0	0	0	0	1	0	0	0	3285	246	9	5	1507	5	CEP57	11	95564382	Missense_Mutation	SNP	A	TCGA-CN-6994-01A-11D-1912-08	49638008	95564382	39442134	80	20594											
TBCEL	219899	broad.mit.edu	37	chr11	120957653	120957653	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaagaaacagttaaaaactCtagtacaattacccacaagc	20	8	4	9	0	1	1	0	0	1	1	1	1	1	1	1	0	5	2	1	0	11	5			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:120957653C>G	ENST00000422003.2	+	8	1311	c.1123C>G	c.(1123-1125)Cta>Gta	p.L375V	TBCEL_ENST00000529397.1_Missense_Mutation_p.L375V	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	375	Ubiquitin-like.					cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GTTAAAAACTCTAGTACAATT	0.433													4	14					0	0	0	0	G	120957653	C	G	120957653	3	3	107	1	0	0	0	0	1	0	0	0	15729	912	32	2	1149	2	TBCEL	11	120957653	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	25393271	120957653	14048863	81	20595											
OR10G4	390264	broad.mit.edu	37	chr11	123886869	123886869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacacctcagccaacgtgatGgtcatctttgtggacattgg	9	11	11	10	1	3	1	2	1	1	0	3	3	3	2	2	3	2	0	2	3	1	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:123886869G>T	ENST00000320891.4	+	1	588	c.588G>T	c.(586-588)atG>atT	p.M196I		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCAACGTGATGGTCATCTTTG	0.547													30	109					5.91797e-21	9.83662e-21	1	0	T	123886869	G	T	123886869	3	4	107	1	0	0	0	0	1	0	0	0	10972	1348	47	4	590	4	OR10G4	11	123886869	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	2929216	123886869	11119647	82	20596											
CLEC12A	160364	broad.mit.edu	37	chr12	10124195	10124195	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttctttacatattcatcAatgtctgaagaagttactta	13	17	5	6	0	4	2	2	1	2	1	4	3	4	2	0	0	2	1	0	0	7	7			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:10124195A>C	ENST00000355690.4	+	2	61	c.30A>C	c.(28-30)tcA>tcC	p.S10S	CLEC12A_ENST00000350667.4_Intron|CLEC12A_ENST00000434319.2_5'UTR|CLEC12A_ENST00000304361.4_5'UTR	NM_001207010.1	NP_001193939.1	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	0						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CATATTCATCAATGTCTGAAG	0.323													28	38					0	0	0	0	C	10124195	A	C	10124195	2	2	107	1	0	0	0	0	0	0	0	1	3527	145	5	5		5	CLEC12A	12	10124195	Silent	SNP	A	TCGA-CN-6994-01A-11D-1912-08		10124195	123727700	83	20597											
HDAC7	51564	broad.mit.edu	37	chr12	48196010	48196010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtttgactcttacctgCgccagtggggctgcagtagt	5	11	14	11	2	1	1	0	1	1	0	1	1	1	1	3	3	3	4	3	3	2	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:48196010C>T	ENST00000080059.7	-	2	66	c.67G>A	c.(67-69)Gca>Aca	p.A23T	HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000354334.3_Missense_Mutation_p.A23T|HDAC7_ENST00000427332.2_5'UTR|HDAC7_ENST00000380610.4_Missense_Mutation_p.A40T	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	207	Interaction with MEF2C (By similarity).|Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTCTTACCTGCGCCAGTGGGG	0.602											OREG0021756	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	21					0	0	0	0	T	48196010	C	T	48196010	3	4	107	1	0	0	0	0	1	0	0	0	7062	768	27	1	3008	1	HDAC7	12	48196010	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	38071815	48196010	85655885	84	20598											
PA2G4	5036	broad.mit.edu	37	chr12	56498590	56498590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtgaccaagtataagatGgggggcgacatcgccaacag	12	6	14	9	3	0	2	0	1	0	1	2	3	0	2	2	3	1	1	2	3	4	2	rs144476801		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:56498590G>A	ENST00000303305.6	+	1	488	c.69G>A	c.(67-69)atG>atA	p.M23I	RP11-603J24.9_ENST00000548861.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.M23I	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	23	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AGTATAAGATGGGGGGCGACA	0.607													19	113					0	0	0	0	A	56498590	G	A	56498590	3	1	107	1	0	0	0	0	1	0	0	0	11432	1348	47	4	71	4	PA2G4	12	56498590	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	8302580	56498590	77353305	85	20599											
CUX2	23316	broad.mit.edu	37	chr12	111758419	111758419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcggctgccctactaccCggcctacgtgccgcgcaccc	4	5	11	21	7	0	0	0	0	0	0	0	0	0	0	5	2	5	2	5	2	3	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:111758419C>T	ENST00000261726.6	+	17	2760	c.2606C>T	c.(2605-2607)cCg>cTg	p.P869L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	869						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCTACTACCCGGCCTACGTG	0.726													5	2					0	0	0	0	T	111758419	C	T	111758419	3	4	107	1	0	0	0	0	1	0	0	0	4097	652	23	1	2672	1	CUX2	12	111758419	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	55259829	111758419	22093476	86	20600											
FRY	10129	broad.mit.edu	37	chr13	32729801	32729801	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagccaaaatgataggTgagtttcagaagtgcataag	16	8	13	4	0	1	3	1	2	0	1	1	5	1	4	1	2	2	2	1	2	6	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr13:32729801T>A	ENST00000380250.3	+	15	2147		c.e15+2			NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAATGATAGGTGAGTTTCAGA	0.348													4	9					0	0	0	0	A	32729801	T	A	32729801	5	1	107	1	0	0	0	0	0	0	1	0	6111	1710	59	5	1711	5	FRY	13	32729801	Splice_Site	SNP	T	TCGA-CN-6994-01A-11D-1912-08		32729801	82440077	87	20601											
PRPF39	55015	broad.mit.edu	37	chr14	45564523	45564523	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggtagtggtagaacaTcctactgatttcagtactga	12	12	10	7	0	2	4	2	2	0	2	3	4	3	4	1	2	3	3	1	2	5	5			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:45564523T>A	ENST00000355765.6	+	2	251	c.81T>A	c.(79-81)caT>caA	p.H27Q		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	27					mRNA processing|RNA splicing	nucleus	binding	p.H27H(1)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						TGGTAGAACATCCTACTGATT	0.393													7	422					0	0	0	0	A	45564523	T	A	45564523	3	1	107	1	0	0	0	0	1	0	0	0	12649	1432	50	5	83	5	PRPF39	14	45564523	Missense_Mutation	SNP	T	TCGA-CN-6994-01A-11D-1912-08		45564523	61785017	88	20602											
TDP1	55775	broad.mit.edu	37	chr14	90509414	90509414	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatgtgtttttcccccagAtcggccatggatatggaaca	10	12	10	9	1	0	1	0	0	0	1	2	3	1	3	3	3	1	2	3	3	3	4	rs148839664		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:90509414A>G	ENST00000335725.4	+	17	2004	c.1753_splice	c.e17-1	p.D585_splice	TDP1_ENST00000555880.1_Splice_Site_p.I549_splice|TDP1_ENST00000393454.2_Splice_Site_p.D585_splice|TDP1_ENST00000357382.3_Splice_Site_p.D346_splice|TDP1_ENST00000393452.3_3'UTR	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	585					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TTTCCCCCAGATCGGCCATGG	0.418								Repair of DNA-protein crosslinks					11	129					0	0	0	0	G	90509414	A	G	90509414	5	3	107	1	0	0	0	0	0	0	1	0	15822	347	12	5	1812	5	TDP1	14	90509414	Splice_Site	SNP	A	TCGA-CN-6994-01A-11D-1912-08	44944891	90509414	16840126	89	20603											
BCL11B	64919	broad.mit.edu	37	chr14	99640654	99640654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcgtcttcatgtggcgcGtgagcttgctgctctgcgcg	2	12	15	12	6	3	1	1	1	2	0	3	1	3	1	0	1	5	3	0	1	0	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:99640654G>A	ENST00000345514.2	-	3	2572	c.2306C>T	c.(2305-2307)aCg>aTg	p.T769M	BCL11B_ENST00000443726.2_Missense_Mutation_p.T646M|BCL11B_ENST00000357195.3_Missense_Mutation_p.T840M	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	840						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CATGTGGCGCGTGAGCTTGCT	0.622			T	TLX3	T-ALL								6	42					0	0	0	0	A	99640654	G	A	99640654	3	1	107	1	0	0	0	0	1	0	0	0	1368	1145	40	1	169	1	BCL11B	14	99640654	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	9131240	99640654	7708886	90	20604											
RAD51	5888	broad.mit.edu	37	chr15	41022163	41022163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatatcatcgcccatgcatCaacaaccaggtaaggtgttg	14	9	8	10	1	2	0	2	0	0	0	3	0	2	0	2	2	3	3	2	2	5	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:41022163C>T	ENST00000267868.3	+	9	1155	c.887C>T	c.(886-888)tCa>tTa	p.S296L	RAD51_ENST00000423169.2_Intron|RAD51_ENST00000382643.3_Missense_Mutation_p.S297L|RAD51_ENST00000557850.1_Missense_Mutation_p.S199L|RAD51_ENST00000532743.1_Missense_Mutation_p.S297L|RAD51_ENST00000530766.1_Intron	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	296					DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GCCCATGCATCAACAACCAGG	0.408								Homologous recombination					19	23					0	0	0	0	T	41022163	C	T	41022163	3	4	107	1	0	0	0	0	1	0	0	0	13067	838	29	2	1042	2	RAD51	15	41022163	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08		41022163	61509229	91	20605											
MYEF2	50804	broad.mit.edu	37	chr15	48441469	48441469	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatgctcctttccagtataGctcctatacctggtcccatt	7	14	6	14	1	0	0	0	0	0	0	4	1	4	0	5	1	3	3	5	1	4	6			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:48441469G>C	ENST00000324324.7	-	15	1757	c.1478C>G	c.(1477-1479)gCt>gGt	p.A493G	MYEF2_ENST00000267836.6_Missense_Mutation_p.A469G	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	493	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTCCAGTATAGCTCCTATACC	0.488													19	96					0	0	0	0	C	48441469	G	C	48441469	3	2	107	1	0	0	0	0	1	0	0	0	10094	971	34	4	336	4	MYEF2	15	48441469	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	7419306	48441469	54089923	92	20606											
IGDCC4	57722	broad.mit.edu	37	chr15	65703589	65703589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccctggtggggggtccagCggcagcagcccccaggctac	6	4	15	16	1	0	0	0	0	0	0	1	0	1	0	4	6	4	3	4	6	1	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:65703589C>T	ENST00000352385.2	-	2	399	c.190G>A	c.(190-192)Gct>Act	p.A64T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	64	Ig-like C2-type 1.|Poly-Ala.					integral to membrane|plasma membrane		p.A64T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGGGTCCAGCGGCAGCAGCC	0.642													15	30					0	0	0	0	T	65703589	C	T	65703589	3	4	107	1	0	0	0	0	1	0	0	0	7622	768	27	1	3638	1	IGDCC4	15	65703589	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	17262120	65703589	36827803	93	20607											
TBC1D2B	23102	broad.mit.edu	37	chr15	78316600	78316600	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccctcgccctcgctgagCttgatgatgacctcgtcctt	4	13	9	15	3	0	4	0	4	0	0	4	4	1	4	4	0	2	2	4	0	0	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:78316600C>A	ENST00000409931.3	-	6	1439	c.1368G>T	c.(1366-1368)aaG>aaT	p.K456N	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.K456N			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	456						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CCTCGCTGAGCTTGATGATGA	0.617													19	45					5.3912e-06	8.08681e-06	1	0	A	78316600	C	A	78316600	3	1	107	1	0	0	0	0	1	0	0	0	15710	796	28	4	1555	4	TBC1D2B	15	78316600	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	12613011	78316600	24214792	94	20608											
IREB2	3658	broad.mit.edu	37	chr15	78758639	78758639	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acagaatgcaccaaatcctgGaggtggtgacctgcagaaag	14	6	12	9	0	0	3	0	1	0	2	1	4	1	4	3	3	2	2	3	3	3	0			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:78758639G>C	ENST00000258886.8	+	5	586	c.437G>C	c.(436-438)gGa>gCa	p.G146A	IREB2_ENST00000560440.1_Missense_Mutation_p.G146A|IREB2_ENST00000559427.1_3'UTR	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	146							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CCAAATCCTGGAGGTGGTGAC	0.433													4	35					0	0	0	0	C	78758639	G	C	78758639	3	2	107	1	0	0	0	0	1	0	0	0	7879	1174	41	2	455	2	IREB2	15	78758639	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	442039	78758639	23772753	95	20609											
RHOT2	89941	broad.mit.edu	37	chr16	723125	723125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcgccaccatggccgcCttcccgtgggtacccagtag	6	7	11	17	3	0	0	0	0	0	0	2	0	1	0	6	2	2	3	6	2	2	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:723125C>T	ENST00000315082.4	+	18	1839	c.1725C>T	c.(1723-1725)gcC>gcT	p.A575A		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	575	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCATGGCCGCCTTCCCGTGGG	0.667													6	24					0	0	0	0	T	723125	C	T	723125	2	4	107	1	0	0	0	0	0	0	0	1	13427	668	24	4		4	RHOT2	16	723125	Silent	SNP	C	TCGA-CN-6994-01A-11D-1912-08		723125	89631628	96	20610											
TSC2	7249	broad.mit.edu	37	chr16	2134999	2134999	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccttctttggcgacgagtCaaacaagccaatcctgctgc	9	9	8	15	2	2	0	1	0	1	0	3	2	3	0	4	1	4	1	4	1	3	2	rs137854193		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:2134999C>G	ENST00000219476.3	+	35	5171	c.4541C>G	c.(4540-4542)tCa>tGa	p.S1514*	TSC2_ENST00000568454.1_Nonsense_Mutation_p.S1458*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.S1411*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.S1491*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.S1447*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.S1471*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.S1399*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1514					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGCGACGAGTCAAACAAGCCA	0.637			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				3	40					0	0	0	0	G	2134999	C	G	2134999	4	3	107	1	0	0	0	0	0	1	0	0	16701	838	29	2	4675	2	TSC2	16	2134999	Nonsense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	1411874	2134999	88219754	97	20611											
NLRC3	197358	broad.mit.edu	37	chr16	3614104	3614104	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgtcatccggtccaccagGccccctgggatctggccaga	6	7	11	17	2	2	1	1	0	1	1	5	2	5	2	7	4	0	0	7	4	0	0			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:3614104G>A	ENST00000301749.7	-	0	1239				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGTCCACCAGGCCCCCTGGGA	0.592													18	34					0	0	0	0	A	3614104	G	A	3614104	1	1	107	0	1	0	0	0	0	0	0	0	10538	1190	42	4		4	NLRC3	16	3614104	RNA	SNP	G	TCGA-CN-6994-01A-11D-1912-08	1479105	3614104	86740649	98	20612											
PRR14	78994	broad.mit.edu	37	chr16	30665627	30665627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccattccagccatctgctCtgcctgcagaccctctggag	6	9	8	18	0	3	1	0	0	3	1	4	2	4	2	6	1	4	2	6	1	0	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:30665627C>G	ENST00000542965.2	+	6	1081	c.625C>G	c.(625-627)Ctg>Gtg	p.L209V	PRR14_ENST00000300835.4_Missense_Mutation_p.L209V			Q9BWN1	PRR14_HUMAN	proline rich 14	209	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCCATCTGCTCTGCCTGCAGA	0.577													4	182					0	0	0	0	G	30665627	C	G	30665627	3	3	107	1	0	0	0	0	1	0	0	0	12666	912	32	2	647	2	PRR14	16	30665627	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	27051523	30665627	59689126	99	20613											
CTU2	348180	broad.mit.edu	37	chr16	88776402	88776402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccatgctgggcaagaaccGgctcatctttccaggcgaga	10	7	12	12	2	2	2	1	0	1	2	3	3	3	2	3	3	3	3	3	3	2	1	rs149997219	byFrequency	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:88776402G>A	ENST00000567949.1	+	3	209	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	CTU2_ENST00000378384.3_Intron|CTU2_ENST00000453996.2_Missense_Mutation_p.R67Q|CTU2_ENST00000312060.5_Missense_Mutation_p.R67Q			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	67					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						GGCAAGAACCGGCTCATCTTT	0.612													42	68					0	0	0	0	A	88776402	G	A	88776402	3	1	107	1	0	0	0	0	1	0	0	0	4080	1116	39	1	210	1	CTU2	16	88776402	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	58110775	88776402	1578351	100	20614											
TP53	7157	broad.mit.edu	37	chr17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagattctcttcctctgtgCgccggtctctcccaggacag	5	11	11	14	2	3	1	0	0	3	1	7	3	5	2	3	3	1	0	3	3	0	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:7577090C>G	ENST00000420246.2	-	8	980	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000269305.4_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCTCTGTGCGCCGGTCTCT	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	40					0	0	0	0	G	7577090	C	G	7577090	3	3	107	1	0	0	0	0	1	0	0	0	16476	768	27	3	438	3	TP53	17	7577090	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08		7577090	73618120	101	20615											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	48					0	0	0	0	T	7578406	C	T	7578406	3	4	107	1	0	0	0	0	1	0	0	0	16476	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	1316	7578406	73616804	102	20616											
NOS2	4843	broad.mit.edu	37	chr17	26089930	26089930	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcttcagaatggggagctgGgaaagcaggaagccagcaga	13	4	17	7	0	1	2	1	0	0	2	1	5	1	5	1	5	4	4	1	5	3	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:26089930G>A	ENST00000313735.6	-	22	2927	c.2694C>T	c.(2692-2694)tcC>tcT	p.S898S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	898	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGGGGAGCTGGGAAAGCAGGA	0.592													5	5					0	0	0	0	A	26089930	G	A	26089930	2	1	107	1	0	0	0	0	0	0	0	1	10613	1219	43	4		4	NOS2	17	26089930	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08	18511524	26089930	55105280	103	20617											
EFCAB5	374786	broad.mit.edu	37	chr17	28407106	28407106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtaggatgctgaagcccatgGaaataaaaagatcagtgctc	15	8	11	7	0	1	2	1	1	0	1	2	4	1	4	1	2	3	3	1	2	6	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:28407106G>A	ENST00000394835.3	+	16	3236	c.3044G>A	c.(3043-3045)gGa>gAa	p.G1015E	EFCAB5_ENST00000320856.5_Missense_Mutation_p.G891E|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1015							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAAGCCCATGGAAATAAAAAG	0.428													16	94					0	0	0	0	A	28407106	G	A	28407106	3	1	107	1	0	0	0	0	1	0	0	0	4974	1174	41	2	3273	2	EFCAB5	17	28407106	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	2317176	28407106	52788104	104	20618											
SUZ12	23512	broad.mit.edu	37	chr17	30302527	30302527	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgtccaataaggcaagtTcccacaggtaaaaagcaggt	15	8	10	8	0	0	0	0	0	0	0	2	0	2	0	2	3	1	5	2	3	6	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:30302527T>C	ENST00000322652.5	+	7	847	c.618T>C	c.(616-618)gtT>gtC	p.V206V	SUZ12_ENST00000580398.1_Silent_p.V183V	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	206					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TAAGGCAAGTTCCCACAGGTA	0.333			T	JAZF1	endometrial stromal tumours								22	35					0	0	0	0	C	30302527	T	C	30302527	2	2	107	1	0	0	0	0	0	0	0	1	15506	1770	62	5		5	SUZ12	17	30302527	Silent	SNP	T	TCGA-CN-6994-01A-11D-1912-08	1895421	30302527	50892683	105	20619											
OSBPL7	114881	broad.mit.edu	37	chr17	45890757	45890757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggccgagacagcaaaggCtgcgatgtacacctgtgggg	10	6	16	9	2	0	1	0	0	0	1	0	3	0	1	2	4	3	4	2	4	3	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:45890757C>T	ENST00000007414.3	-	16	1803	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	OSBPL7_ENST00000392507.3_Missense_Mutation_p.A538T	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	538					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						ACAGCAAAGGCTGCGATGTAC	0.622													15	28					0	0	0	0	T	45890757	C	T	45890757	3	4	107	1	0	0	0	0	1	0	0	0	11353	797	28	4	948	4	OSBPL7	17	45890757	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	15588230	45890757	35304453	106	20620											
CSHL1	1444	broad.mit.edu	37	chr17	61988275	61988275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagccaggagcagggacGtccgggagcctggggagaaa	13	2	17	9	2	0	1	0	0	0	1	1	5	1	4	3	5	3	1	3	5	3	0			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:61988275G>T	ENST00000392824.4	-	2	81	c.20C>A	c.(19-21)aCg>aAg	p.T7K	CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000259003.10_Missense_Mutation_p.T7K|CSHL1_ENST00000309894.5_Missense_Mutation_p.T7K			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	7						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GAGCAGGGACGTCCGGGAGCC	0.582													12	38					9.05144e-12	1.43655e-11	1	0	T	61988275	G	T	61988275	3	4	107	1	0	0	0	0	1	0	0	0	3974	1145	40	3	664	3	CSHL1	17	61988275	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	16097518	61988275	19206935	107	20621											
SCN4A	6329	broad.mit.edu	37	chr17	62029168	62029168	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatgcgcccgatggcaatCtgcaggttgttcatctcgcc	6	12	11	12	3	3	1	1	1	2	0	4	2	3	1	2	2	2	4	2	2	1	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:62029168C>G	ENST00000578147.1	-	14	2545	c.2469G>C	c.(2467-2469)caG>caC	p.Q823H	SCN4A_ENST00000435607.1_Missense_Mutation_p.Q823H			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	823					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CGATGGCAATCTGCAGGTTGT	0.602													3	6					0	0	0	0	G	62029168	C	G	62029168	3	3	107	1	0	0	0	0	1	0	0	0	14007	912	32	2	3085	2	SCN4A	17	62029168	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	40893	62029168	19166042	108	20622											
HELZ	9931	broad.mit.edu	37	chr17	65105354	65105354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtggccttcttgcagcatgGgagggggctgctgctccgga	4	10	17	10	1	1	0	0	0	1	0	2	2	2	2	2	5	4	5	2	5	0	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:65105354G>T	ENST00000358691.5	-	29	4533	c.4367C>A	c.(4366-4368)cCc>cAc	p.P1456H	HELZ_ENST00000580168.1_Missense_Mutation_p.P1457H	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTGCAGCATGGGAGGGGGCTG	0.532													17	70					2.23348e-06	3.37078e-06	1	0	T	65105354	G	T	65105354	3	4	107	1	0	0	0	0	1	0	0	0	7099	1232	43	4	1481	4	HELZ	17	65105354	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	3076186	65105354	16089856	109	20623											
GALR2	8811	broad.mit.edu	37	chr17	74073206	74073206	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcctacgccaactcctgCgtcaaccccatcgtttacgc	7	10	6	18	4	2	0	1	0	1	0	5	0	3	0	5	0	5	1	5	0	4	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:74073206C>A	ENST00000329003.3	+	2	948	c.858C>A	c.(856-858)tgC>tgA	p.C286*		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	286					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CCAACTCCTGCGTCAACCCCA	0.662													4	24					0.00024832	0.00036146	1	0	A	74073206	C	A	74073206	4	1	107	1	0	0	0	0	0	1	0	0	6277	776	27	3	864	3	GALR2	17	74073206	Nonsense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	8967852	74073206	7122004	110	20624											
TNRC6C	57690	broad.mit.edu	37	chr17	76046391	76046391	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcactgggagggaaggaacGggagaaggccgaaggcgaga	14	1	20	6	3	0	2	0	0	0	2	0	8	0	5	1	6	2	1	1	6	4	0			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:76046391G>A	ENST00000335749.4	+	3	1817	c.1248G>A	c.(1246-1248)acG>acA	p.T416T	TNRC6C_ENST00000544502.1_Silent_p.T416T|TNRC6C_ENST00000588847.1_Silent_p.T416T|TNRC6C_ENST00000541771.1_Silent_p.T416T|TNRC6C_ENST00000588061.1_Silent_p.T416T|TNRC6C_ENST00000301624.4_Silent_p.T416T	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	416	Gly-rich.|Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGAAGGAACGGGAGAAGGCC	0.507													29	74					0	0	0	0	A	76046391	G	A	76046391	2	1	107	1	0	0	0	0	0	0	0	1	16436	1103	39	1		1	TNRC6C	17	76046391	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08	1973185	76046391	5148819	111	20625											
DNAH17	8632	broad.mit.edu	37	chr17	76471394	76471407	+	Frame_Shift_Del	DEL	GTGATCTGAAACAC	GTGATCTGAAACAC	-																															tcccgtagcccttcttgaggGtgatctgaaacacgtcaagc																								rs5822243		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:76471394_76471407delGTGATCTGAAACAC	ENST00000389840.5	-	54	8546_8559	c.8422_8435delGTGTTTCAGATCAC	c.(8422-8436)cfs	p.VFQIT2808fs	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Frame_Shift_Del_p.VFQIT2817fs					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTCTTGAGGGTGATCTGAAACACGTCAAGCCCG	0.584													7	105	---	---	---	---					-	76471407	GTGATCTGAAACAC	-	76471394	7	5	107	1	0	1	0	1	0	0	0	0	4638	1261	44	0	5023	0	DNAH17	17	76471394	Frame_Shift_Del	DEL	GTGATCTGAAACAC	TCGA-CN-6994-01A-11D-1912-08	425003	76471394	4723816	112	20626											
RNF213	57674	broad.mit.edu	37	chr17	78269374	78269374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggtgaagagatacctgtgGcaacatctgaaaaaacacgt	16	7	10	8	1	1	3	0	2	1	1	1	4	1	3	1	2	3	1	1	2	6	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:78269374G>C	ENST00000582970.1	+	10	1916	c.1773G>C	c.(1771-1773)tgG>tgC	p.W591C	RNF213_ENST00000456466.1_Missense_Mutation_p.W591C|RNF213_ENST00000319921.4_Missense_Mutation_p.W591C|RNF213_ENST00000508628.2_Missense_Mutation_p.W640C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	591										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATACCTGTGGCAACATCTGA	0.517													11	30					0	0	0	0	C	78269374	G	C	78269374	3	2	107	1	0	0	0	0	1	0	0	0	13562	1212	42	4	1958	4	RNF213	17	78269374	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	1797980	78269374	2925836	113	20627											
RNF213	57674	broad.mit.edu	37	chr17	78337076	78337076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggttctccacagcctgatgGaagcccgttggaaccatgag	10	8	12	11	1	1	2	0	2	1	0	2	4	1	4	4	3	3	2	4	3	2	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:78337076G>A	ENST00000582970.1	+	40	11673	c.11530G>A	c.(11530-11532)Gaa>Aaa	p.E3844K	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.E3893K|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.E1917K	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGCCTGATGGAAGCCCGTTG	0.567													18	87					0	0	0	0	A	78337076	G	A	78337076	3	1	107	1	0	0	0	0	1	0	0	0	13562	1175	41	2	12003	2	RNF213	17	78337076	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	67702	78337076	2858134	114	20628											
ONECUT2	9480	broad.mit.edu	37	chr18	55103824	55103824	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggccatgatgtcgcacctGaacggcctgcaccacccggg	7	5	13	16	4	0	2	0	2	0	0	1	2	0	2	5	3	2	2	5	3	1	0			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr18:55103824G>C	ENST00000491143.2	+	1	908	c.876G>C	c.(874-876)ctG>ctC	p.L292L		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	292					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TGTCGCACCTGAACGGCCTGC	0.706													7	41					0	0	0	0	C	55103824	G	C	55103824	2	2	107	1	0	0	0	0	0	0	0	1	10940	1277	45	2		2	ONECUT2	18	55103824	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08		55103824	22973424	115	20629											
SOCS6	9306	broad.mit.edu	37	chr18	67993288	67993288	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgatctaattgagcattcaAtcagggactctgaaaatgga	14	12	9	6	0	4	3	2	3	2	0	4	5	4	5	0	2	1	1	0	2	4	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr18:67993288A>G	ENST00000397942.3	+	2	1700	c.1384A>G	c.(1384-1386)Atc>Gtc	p.I462V	SOCS6_ENST00000582322.1_Missense_Mutation_p.I462V	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	462	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TGAGCATTCAATCAGGGACTC	0.448													7	41					0	0	0	0	G	67993288	A	G	67993288	3	3	107	1	0	0	0	0	1	0	0	0	15006	101	4	5	1386	5	SOCS6	18	67993288	Missense_Mutation	SNP	A	TCGA-CN-6994-01A-11D-1912-08	12889464	67993288	10083960	116	20630											
BTBD2	55643	broad.mit.edu	37	chr19	1993166	1993166	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaatctgcacctcgtccgaGtagagaaacctgcagaagca	13	6	9	13	2	1	2	0	0	1	2	3	4	2	2	4	0	4	4	4	0	4	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:1993166G>C	ENST00000255608.4	-	3	553	c.537C>G	c.(535-537)taC>taG	p.Y179*	BTBD2_ENST00000590646.1_5'UTR	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	179	BTB.					cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|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)		CCTCGTCCGAGTAGAGAAACC	0.647													5	24					0	0	0	0	C	1993166	G	C	1993166	4	2	107	1	0	0	0	0	0	1	0	0	1552	1024	36	4	1068	4	BTBD2	19	1993166	Nonsense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08		1993166	57135817	117	20631											
ZNF846	162993	broad.mit.edu	37	chr19	9869059	9869059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattactgaaggctttccCacattccttacatacatagt	12	13	6	10	0	0	1	0	1	0	0	2	2	2	2	2	2	3	1	2	2	6	6			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:9869059C>T	ENST00000397902.2	-	6	1107	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	ZNF846_ENST00000592859.1_Missense_Mutation_p.G103R|ZNF846_ENST00000588267.1_Missense_Mutation_p.G103R|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AAGGCTTTCCCACATTCCTTA	0.383													14	40					0	0	0	0	T	9869059	C	T	9869059	3	4	107	1	0	0	0	0	1	0	0	0	18285	594	21	4	911	4	ZNF846	19	9869059	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	7875893	9869059	49259924	118	20632											
KRI1	65095	broad.mit.edu	37	chr19	10665783	10665783	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttctcggcagagtgacttGaagacctgccgctttttcca	7	13	9	12	2	2	4	0	2	2	2	4	4	3	4	3	1	1	2	3	1	1	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:10665783G>C	ENST00000312962.6	-	18	1798	c.1779C>G	c.(1777-1779)ttC>ttG	p.F593L	KRI1_ENST00000361821.5_Missense_Mutation_p.F589L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	593										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGAGTGACTTGAAGACCTGCC	0.602													8	43					0	0	0	0	C	10665783	G	C	10665783	3	2	107	1	0	0	0	0	1	0	0	0	8496	1281	45	2	358	2	KRI1	19	10665783	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	796724	10665783	48463200	119	20633											
ZNF791	163049	broad.mit.edu	37	chr19	12739064	12739064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgaaagaactcacactggaGagaaaccctatgcatgtaag	17	6	9	9	1	1	2	1	0	0	2	1	5	1	3	1	1	3	2	1	1	5	2			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:12739064G>A	ENST00000343325.4	+	4	883	c.721G>A	c.(721-723)Gag>Aag	p.E241K	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.E132K|ZNF791_ENST00000458122.3_Missense_Mutation_p.E209K|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TCACACTGGAGAGAAACCCTA	0.413													4	38					0	0	0	0	A	12739064	G	A	12739064	3	1	107	1	0	0	0	0	1	0	0	0	18256	943	33	2	735	2	ZNF791	19	12739064	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	2073281	12739064	46389919	120	20634											
ARMC6	93436	broad.mit.edu	37	chr19	19153573	19153573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacacaggcgaagatggtctCcaagcgcattgcccaggaga	13	5	12	11	2	1	2	0	0	1	2	2	4	1	2	2	3	3	1	2	3	3	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:19153573C>T	ENST00000535612.1	+	3	515	c.83C>T	c.(82-84)tCc>tTc	p.S28F	ARMC6_ENST00000269932.6_Missense_Mutation_p.S3F|ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000392335.2_Missense_Mutation_p.S3F|ARMC6_ENST00000392336.3_Missense_Mutation_p.S28F	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	28							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AAGATGGTCTCCAAGCGCATT	0.577													7	45					0	0	0	0	T	19153573	C	T	19153573	3	4	107	1	0	0	0	0	1	0	0	0	959	855	30	2	10	2	ARMC6	19	19153573	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	6414509	19153573	39975410	121	20635											
ZNF737	100129842	broad.mit.edu	37	chr19	20728196	20728196	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attatcttatgtgtagtaagGttagaggagcgcttaaaggc	12	13	12	4	1	1	1	0	0	1	1	1	2	1	2	0	3	1	4	0	3	7	6			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:20728196G>A	ENST00000427401.4	-	4	907	c.813C>T	c.(811-813)aaC>aaT	p.N271N		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	271					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTGTAGTAAGGTTAGAGGAGC	0.413													3	25					0	0	0	0	A	20728196	G	A	20728196	2	1	107	1	0	0	0	0	0	0	0	1	18220	1252	44	4		4	ZNF737	19	20728196	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08	1574623	20728196	38400787	122	20636											
ZBTB32	27033	broad.mit.edu	37	chr19	36205889	36205889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggacagggctaaaaagccaGatccaggcctgaagaaacat	16	4	12	9	0	0	3	0	1	0	2	1	4	1	4	3	3	2	1	3	3	5	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:36205889G>A	ENST00000392197.2	+	3	679	c.361G>A	c.(361-363)Gat>Aat	p.D121N	ZBTB32_ENST00000262630.3_Missense_Mutation_p.D121N			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	121					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TAAAAAGCCAGATCCAGGCCT	0.587													182	322					0	0	0	0	A	36205889	G	A	36205889	3	1	107	1	0	0	0	0	1	0	0	0	17630	942	33	2	363	2	ZBTB32	19	36205889	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	15477693	36205889	22923094	123	20637											
ZNF567	163081	broad.mit.edu	37	chr19	37210699	37210699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcattcgtcatcagagaaCtcacacgggagagaaaccat	14	7	8	12	2	4	2	4	0	0	2	5	5	4	3	2	1	2	0	2	1	2	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:37210699C>A	ENST00000585696.1	+	3	2210	c.980C>A	c.(979-981)aCt>aAt	p.T327N	ZNF567_ENST00000536254.2_Missense_Mutation_p.T358N|ZNF567_ENST00000392163.2_Missense_Mutation_p.T327N|ZNF567_ENST00000360729.4_Missense_Mutation_p.T327N|ZNF567_ENST00000588311.1_Missense_Mutation_p.T327N|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATCAGAGAACTCACACGGGA	0.448													9	37					3.09899e-07	4.70587e-07	1	0	A	37210699	C	A	37210699	3	1	107	1	0	0	0	0	1	0	0	0	18093	565	20	4	990	4	ZNF567	19	37210699	Missense_Mutation	SNP	C	TCGA-CN-6994-01A-11D-1912-08	1004810	37210699	21918284	124	20638											
ZNF420	147923	broad.mit.edu	37	chr19	37619879	37619879	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacagctaactcaacatcaGagaattcatatcagtgagaa	17	9	6	9	0	5	2	5	1	0	2	5	4	5	2	0	0	3	1	0	0	5	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:37619879G>C	ENST00000337995.3	+	5	2201	c.1986G>C	c.(1984-1986)caG>caC	p.Q662H	ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000586540.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCAACATCAGAGAATTCATA	0.373													7	54					0	0	0	0	C	37619879	G	C	37619879	3	2	107	1	0	0	0	0	1	0	0	0	17992	933	33	2	1996	2	ZNF420	19	37619879	Missense_Mutation	SNP	G	TCGA-CN-6994-01A-11D-1912-08	409180	37619879	21509104	125	20639											
RASIP1	54922	broad.mit.edu	37	chr19	49224214	49224214	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcgagctccccagggggagGatgaggggcgggtgcgagga	7	3	22	9	4	0	1	0	1	0	0	1	6	1	4	2	7	2	1	2	7	0	0			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:49224214G>A	ENST00000222145.4	-	12	2937	c.2733C>T	c.(2731-2733)atC>atT	p.I911I		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	911					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCAGGGGGAGGATGAGGGGCG	0.642													7	29					0	0	0	0	A	49224214	G	A	49224214	2	1	107	1	0	0	0	0	0	0	0	1	13160	1164	41	2		2	RASIP1	19	49224214	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08	11604335	49224214	9904769	126	20640											
ZNF766	90321	broad.mit.edu	37	chr19	52794352	52794352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagaatccacactggagaGaaaccttacaaatgccatgt	16	7	8	10	0	0	2	0	0	0	2	1	5	1	3	3	1	3	0	3	1	4	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:52794352G>A	ENST00000439461.1	+	4	1351	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Silent_p.E451E|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Silent_p.E451E	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		ACACTGGAGAGAAACCTTACA	0.413													8	103					0	0	0	0	A	52794352	G	A	52794352	2	1	107	1	0	0	0	0	0	0	0	1	18234	933	33	2		2	ZNF766	19	52794352	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08	3570138	52794352	6334631	127	20641											
CEP250	11190	broad.mit.edu	37	chr20	34091852	34091852	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacggcgggtccaggccctGgaggaggtgctgggagacct	6	5	20	10	2	0	1	0	0	0	1	1	5	1	4	3	8	1	1	3	8	0	0			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr20:34091852G>A	ENST00000397527.1	+	30	6375	c.5655G>A	c.(5653-5655)ctG>ctA	p.L1885L	CEP250_ENST00000342580.4_Silent_p.L1829L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1885	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCCAGGCCCTGGAGGAGGTGC	0.617													12	31					0	0	0	0	A	34091852	G	A	34091852	2	1	107	1	0	0	0	0	0	0	0	1	3281	1335	47	4		4	CEP250	20	34091852	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08		34091852	28933668	128	20642											
KCNJ15	3772	broad.mit.edu	37	chr21	39671654	39671654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcatcacgaccttgattgaGatcttcatcaccggaacctt	10	12	7	12	2	5	2	4	2	1	1	5	5	5	3	3	1	1	0	3	1	1	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr21:39671654G>A	ENST00000398930.1	+	4	825	c.471G>A	c.(469-471)gaG>gaA	p.E157E	KCNJ15_ENST00000328656.3_Silent_p.E157E|KCNJ15_ENST00000398934.1_Silent_p.E157E|KCNJ15_ENST00000398932.1_Silent_p.E157E|KCNJ15_ENST00000398938.2_Silent_p.E157E			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	157		Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium (By similarity).			synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CCTTGATTGAGATCTTCATCA	0.512													9	47					0	0	0	0	A	39671654	G	A	39671654	2	1	107	1	0	0	0	0	0	0	0	1	8102	933	33	2		2	KCNJ15	21	39671654	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08		39671654	8458241	129	20643											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951885	30951885	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgaagtcattgcggccgttAgggaaggcgaacttgagccg	9	8	15	9	5	1	1	1	1	0	0	2	4	1	2	2	3	3	1	2	3	4	3			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr22:30951885A>G	ENST00000402321.1	-	3	644	c.327T>C	c.(325-327)ccT>ccC	p.P109P	GAL3ST1_ENST00000401975.1_Silent_p.P109P|GAL3ST1_ENST00000443111.2_Silent_p.P109P|GAL3ST1_ENST00000406955.1_Silent_p.P109P|GAL3ST1_ENST00000406361.1_Silent_p.P109P|GAL3ST1_ENST00000338911.5_Silent_p.P109P|GAL3ST1_ENST00000402369.1_Silent_p.P109P			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	109					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TGCGGCCGTTAGGGAAGGCGA	0.597													3	133					0	0	0	0	G	30951885	A	G	30951885	2	3	107	1	0	0	0	0	0	0	0	1	6246	407	15	5		5	GAL3ST1	22	30951885	Silent	SNP	A	TCGA-CN-6994-01A-11D-1912-08		30951885	20352681	130	20644											
L3MBTL2	83746	broad.mit.edu	37	chr22	41623845	41623845	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggccaaagaggccacaaaGaagaaaaagaaacagtttgg	21	3	11	6	0	0	4	0	0	0	4	0	4	0	4	2	3	1	1	2	3	7	1			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr22:41623845G>A	ENST00000216237.5	+	15	2018	c.1860G>A	c.(1858-1860)aaG>aaA	p.K620K		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	620	Poly-Lys.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGCCACAAAGAAGAAAAAGA	0.572													6	36					0	0	0	0	A	41623845	G	A	41623845	2	1	107	1	0	0	0	0	0	0	0	1	8645	933	33	2		2	L3MBTL2	22	41623845	Silent	SNP	G	TCGA-CN-6994-01A-11D-1912-08	10671960	41623845	9680721	131	20645											
ALAS2	212	broad.mit.edu	37	chrX	55054214	55054214	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctctttttcttgttccaTcccagagcaacctctccccc	7	13	3	18	0	3	1	0	0	3	1	6	1	5	1	6	0	3	2	6	0	2	4			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chrX:55054214T>A	ENST00000396198.3	-	2	112	c.27A>T	c.(25-27)ggA>ggT	p.G9G	ALAS2_ENST00000330807.5_Intron|ALAS2_ENST00000335854.4_Intron	NM_001037968.3	NP_001033057.1	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	0					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TCTTGTTCCATCCCAGAGCAA	0.537													12	18					0	0	0	0	A	55054214	T	A	55054214	2	1	107	1	0	0	0	0	0	0	0	1	485	1422	50	5		5	ALAS2	23	55054214	Silent	SNP	T	TCGA-CN-6994-01A-11D-1912-08		55054214	100216346	132	20646											
EYA3	2140	broad.mit.edu	37	chr1	28384547	28384547	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcttccatgaggaccaaTatttctttattatacttatg	10	19	4	8	0	3	1	0	1	3	0	4	2	4	2	2	1	1	0	2	1	6	9			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:28384547T>C	ENST00000373864.1	-	0	51				EYA3_ENST00000545175.1_De_novo_Start_OutOfFrame|EYA3_ENST00000540618.1_De_novo_Start_InFrame|EYA3_ENST00000373871.3_De_novo_Start_InFrame|EYA3_ENST00000436342.2_De_novo_Start_InFrame|EYA3_ENST00000373863.3_De_novo_Start_InFrame|EYA3_ENST00000471498.1_5'UTR			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)						anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGAGGACCAATATTTCTTTAT	0.328													45	31					0	0	0	0	C	28384547	T	C	28384547	1	2	108	1	0	0	0	0	0	0	0	0	5368	1421	49	5		5	EYA3	1	28384547	Translation_Start_Site	SNP	T	TCGA-CN-6995-01A-31D-2012-08		28384547	220866074	1	20647											
DOCK7	85440	broad.mit.edu	37	chr1	62943474	62943474	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttccataaaaaccaacaCgaaaataggtgccaaacatc	18	7	6	10	1	0	0	0	0	0	0	2	1	1	0	3	2	4	1	3	2	8	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:62943474C>A	ENST00000251157.5	-	43	5531	c.5498G>T	c.(5497-5499)cGt>cTt	p.R1833L	DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000340370.5_Missense_Mutation_p.R1813L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1844	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAAACCAACACGAAAATAGGT	0.363													30	44					1.71298e-08	2.06351e-08	1	0	A	62943474	C	A	62943474	3	1	108	1	0	0	0	0	1	0	0	0	4728	536	19	3	919	3	DOCK7	1	62943474	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	34558927	62943474	186307147	2	20648											
LPAR3	23566	broad.mit.edu	37	chr1	85331581	85331581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattccagcgaagaaatcggCagcagctaaattagccaaca	17	6	8	10	2	0	1	0	0	0	1	2	2	1	1	2	1	5	3	2	1	7	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:85331581C>T	ENST00000440886.1	-	1	261	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.A75T			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	75					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAGAAATCGGCAGCAGCTAAA	0.423													22	108					0	0	0	0	T	85331581	C	T	85331581	3	4	108	1	0	0	0	0	1	0	0	0	8970	710	25	4	846	4	LPAR3	1	85331581	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	22388107	85331581	163919040	3	20649											
BARHL2	343472	broad.mit.edu	37	chr1	91180103	91180103	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctgcggttctggtacCaggtcttgacttgggtgtca	5	14	12	10	1	3	1	1	1	2	0	3	1	3	1	2	4	3	2	2	4	2	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:91180103C>T	ENST00000370445.4	-	2	877	c.836G>A	c.(835-837)tGg>tAg	p.W279*		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	279						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GTTCTGGTACCAGGTCTTGAC	0.547													43	52					0	0	0	0	T	91180103	C	T	91180103	4	4	108	1	0	0	0	0	0	1	0	0	1318	595	21	4	335	4	BARHL2	1	91180103	Nonsense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	5848522	91180103	158070518	4	20650											
KIRREL	55243	broad.mit.edu	37	chr1	158047873	158047873	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgacgacgcctcttacGagtgccaggccacggaggcc	7	7	12	15	4	2	1	0	1	2	0	3	4	2	2	4	3	2	0	4	3	1	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:158047873G>T	ENST00000368173.3	+	3	699	c.295G>T	c.(295-297)Gag>Tag	p.E99*	KIRREL_ENST00000392272.2_Nonsense_Mutation_p.E99*|KIRREL_ENST00000360089.4_Nonsense_Mutation_p.E38*|KIRREL_ENST00000359209.6_Nonsense_Mutation_p.E99*|KIRREL_ENST00000416935.2_Intron	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	99	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CGCCTCTTACGAGTGCCAGGC	0.627													35	87					1.60099e-16	2.11656e-16	1	0	T	158047873	G	T	158047873	4	4	108	1	0	0	0	0	0	1	0	0	8376	1059	37	3	305	3	KIRREL	1	158047873	Nonsense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	66867770	158047873	91202748	5	20651											
CRP	1401	broad.mit.edu	37	chr1	159683905	159683905	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtatccgactctttgggaaAcacaaaagccttcctcgaca	13	9	7	12	2	1	0	0	0	1	0	4	3	3	1	3	1	2	1	3	1	4	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:159683905A>G	ENST00000255030.5	-	2	188	c.85T>C	c.(85-87)Ttt>Ctt	p.F29L	CRP_ENST00000368110.1_Missense_Mutation_p.F29L|CRP_ENST00000437342.1_Intron|CRP_ENST00000343919.2_Missense_Mutation_p.F29L|CRP_ENST00000368111.1_Missense_Mutation_p.F29L|CRP_ENST00000368112.1_Missense_Mutation_p.F29L	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	29	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TCTTTGGGAAACACAAAAGCC	0.458													11	78					0	0	0	0	G	159683905	A	G	159683905	3	3	108	1	0	0	0	0	1	0	0	0	3925	43	2	5	593	5	CRP	1	159683905	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	1636032	159683905	89566716	6	20652											
PAPPA2	60676	broad.mit.edu	37	chr1	176563768	176563768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcttcttcttctccctctGcaccgaccgcgtgaagaaag	7	11	8	15	4	4	2	0	1	4	1	6	3	4	2	3	0	1	2	3	0	2	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:176563768G>T	ENST00000367662.3	+	3	2192	c.1028G>T	c.(1027-1029)tGc>tTc	p.C343F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.C343F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	343					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCTCCCTCTGCACCGACCGC	0.577													14	55					6.31663e-08	7.49349e-08	1	0	T	176563768	G	T	176563768	3	4	108	1	0	0	0	0	1	0	0	0	11504	1319	46	4	1034	4	PAPPA2	1	176563768	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	16879863	176563768	72686853	7	20653											
CFHR4	10877	broad.mit.edu	37	chr1	196883745	196883745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaatcagttatggaaacaCcacaggttccatagtgtgtg	13	11	10	7	0	1	1	1	1	0	0	2	2	2	2	2	2	1	2	2	2	4	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:196883745C>G	ENST00000367416.2	+	8	1435	c.1298C>G	c.(1297-1299)aCc>aGc	p.T433S	CFHR4_ENST00000367418.1_Missense_Mutation_p.T187S|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.T187S	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TATGGAAACACCACAGGTTCC	0.363													7	43					0	0	0	0	G	196883745	C	G	196883745	3	3	108	1	0	0	0	0	1	0	0	0	3316	507	18	4	574	4	CFHR4	1	196883745	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	20319977	196883745	52366876	8	20654											
ZNF281	23528	broad.mit.edu	37	chr1	200378334	200378334	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgccgtgactcccccctTcaccgcctcctaggcctgga	5	8	9	19	3	1	2	1	2	0	0	3	3	3	3	8	2	0	0	8	2	1	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:200378334T>A	ENST00000294740.2	-	2	624	c.500A>T	c.(499-501)gAa>gTa	p.E167V	ZNF281_ENST00000367352.3_Missense_Mutation_p.E131V|ZNF281_ENST00000367353.1_Missense_Mutation_p.E167V	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	167					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ACTCCCCCCTTCACCGCCTCC	0.607													10	67					0	0	0	0	A	200378334	T	A	200378334	3	1	108	1	0	0	0	0	1	0	0	0	17913	1783	62	5	2191	5	ZNF281	1	200378334	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	3494589	200378334	48872287	9	20655											
KLHL12	59349	broad.mit.edu	37	chr1	202887471	202887471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatacccaggcaattagaaGggtccaactgactttctaag	14	10	8	9	0	1	2	0	1	1	1	2	2	2	2	2	2	2	1	2	2	7	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:202887471G>A	ENST00000367261.3	-	4	613	c.395C>T	c.(394-396)cCt>cTt	p.P132L	KLHL12_ENST00000435533.3_Missense_Mutation_p.P170L	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	132					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCAATTAGAAGGGTCCAACTG	0.448													12	57					0	0	0	0	A	202887471	G	A	202887471	3	1	108	1	0	0	0	0	1	0	0	0	8420	1000	35	4	1347	4	KLHL12	1	202887471	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	2509137	202887471	46363150	10	20656											
EDARADD	128178	broad.mit.edu	37	chr1	236590709	236590709	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagctgaagaatgtgatacaAttactttgaactgcccacga	14	11	8	8	1	0	4	0	3	0	1	0	5	0	4	1	0	5	1	1	0	7	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:236590709A>G	ENST00000359362.5	+	4	362	c.148A>G	c.(148-150)Att>Gtt	p.I50V	EDARADD_ENST00000334232.4_Missense_Mutation_p.I60V	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	60					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATGTGATACAATTACTTTGAA	0.299													3	8					0	0	0	0	G	236590709	A	G	236590709	3	3	108	1	0	0	0	0	1	0	0	0	4942	101	4	5	227	5	EDARADD	1	236590709	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	33703238	236590709	12659912	11	20657											
CHRM3	1131	broad.mit.edu	37	chr1	240071629	240071629	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctcgaagctgcagcagttAcgaacttcaacagcaaagca	14	8	8	11	2	2	0	1	0	1	0	3	2	2	0	0	0	8	6	0	0	5	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:240071629A>G	ENST00000255380.4	+	5	1657	c.878A>G	c.(877-879)tAc>tGc	p.Y293C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	293					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGCAGCAGTTACGAACTTCAA	0.547													7	63					0	0	0	0	G	240071629	A	G	240071629	3	3	108	1	0	0	0	0	1	0	0	0	3407	391	14	5	880	5	CHRM3	1	240071629	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	3480920	240071629	9178992	12	20658											
FMN2	56776	broad.mit.edu	37	chr1	240492727	240492727	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttcagaaagcatttgcTcaattcgtcgcaaactggaa	13	12	7	9	2	2	1	2	0	0	1	4	2	2	2	0	1	3	3	0	1	4	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr1:240492727T>A	ENST00000319653.9	+	10	4626	c.4396T>A	c.(4396-4398)Tca>Aca	p.S1466T	FMN2_ENST00000545751.1_Missense_Mutation_p.S62T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1466	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.S1609T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGCATTTGCTCAATTCGTCG	0.408													13	78					0	0	0	0	A	240492727	T	A	240492727	3	1	108	1	0	0	0	0	1	0	0	0	5995	1551	54	5	4434	5	FMN2	1	240492727	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	421098	240492727	8757894	13	20659											
VSNL1	7447	broad.mit.edu	37	chr2	17836566	17836566	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagcaagatggataagAacaaagatgaccagattaca	18	9	8	6	0	1	5	1	1	0	4	1	6	1	6	1	1	3	1	1	1	5	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:17836566A>T	ENST00000406397.1	+	4	1006	c.481A>T	c.(481-483)Aac>Tac	p.N161Y	VSNL1_ENST00000295156.4_Missense_Mutation_p.N161Y|VSNL1_ENST00000404666.2_Missense_Mutation_p.N161Y			P62760	VISL1_HUMAN	visinin-like 1	161	EF-hand 4.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATGGATAAGAACAAAGATGA	0.428													26	26					0	0	0	0	T	17836566	A	T	17836566	3	4	108	1	0	0	0	0	1	0	0	0	17323	246	9	5	491	5	VSNL1	2	17836566	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08		17836566	225362807	14	20660											
GTF3C2	2976	broad.mit.edu	37	chr2	27550056	27550056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactaccttatgaatagcCtccagctgcagcctgtccag	10	9	9	13	0	0	2	0	1	0	1	2	3	2	2	5	0	5	2	5	0	4	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:27550056C>G	ENST00000359541.2	-	18	2934	c.2505G>C	c.(2503-2505)gaG>gaC	p.E835D	GTF3C2_ENST00000264720.3_Missense_Mutation_p.E835D			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	835						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATGAATAGCCTCCAGCTGCA	0.542													6	42					0	0	0	0	G	27550056	C	G	27550056	3	3	108	1	0	0	0	0	1	0	0	0	6923	680	24	4	238	4	GTF3C2	2	27550056	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	9713490	27550056	215649317	15	20661											
LHCGR	3973	broad.mit.edu	37	chr2	48936097	48936097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctactcacaaggttttcgGccctgtggccccacggaagg	7	10	11	13	2	2	0	1	0	1	0	3	1	2	1	3	5	1	1	3	5	3	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:48936097G>T	ENST00000294954.7	-	8	691	c.670C>A	c.(670-672)Ccg>Acg	p.P224T	LHCGR_ENST00000403273.1_Missense_Mutation_p.P224T|LHCGR_ENST00000344775.3_Missense_Mutation_p.P224T|LHCGR_ENST00000405626.1_Missense_Mutation_p.P224T|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.P224T	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	224					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAGGTTTTCGGCCCTGTGGCC	0.542													32	149					6.02846e-25	8.43443e-25	1	0	T	48936097	G	T	48936097	3	4	108	1	0	0	0	0	1	0	0	0	8816	1203	42	4	1445	4	LHCGR	2	48936097	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	21386041	48936097	194263276	16	20662											
NRXN1	9378	broad.mit.edu	37	chr2	51255050	51255050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggtgttgcggaactggCggcggatgcgcacgctgtgc	4	8	19	10	6	0	0	0	0	0	0	0	2	0	2	0	5	4	3	0	5	1	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:51255050C>A	ENST00000404971.1	-	2	1701	c.362G>T	c.(361-363)cGc>cTc	p.R121L	NRXN1_ENST00000405472.3_Missense_Mutation_p.R121L|NRXN1_ENST00000405581.1_Missense_Mutation_p.R121L|NRXN1_ENST00000402717.3_Missense_Mutation_p.R121L|NRXN1_ENST00000401669.2_Missense_Mutation_p.R121L|NRXN1_ENST00000406316.2_Missense_Mutation_p.R121L|NRXN1_ENST00000406859.3_Missense_Mutation_p.R121L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	121	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGGAACTGGCGGCGGATGCG	0.647													22	33					2.37509e-13	3.037e-13	1	0	A	51255050	C	A	51255050	3	1	108	1	0	0	0	0	1	0	0	0	10736	768	27	3	4636	3	NRXN1	2	51255050	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	2318953	51255050	191944323	17	20663											
DYSF	8291	broad.mit.edu	37	chr2	71778282	71778282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacacagagctcaacacagGcaaggtaagccggctggagc	13	4	12	12	1	1	1	1	0	0	1	1	2	1	2	1	4	5	4	1	4	4	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:71778282G>A	ENST00000258104.3	+	18	1911	c.1634G>A	c.(1633-1635)gGc>gAc	p.G545D	DYSF_ENST00000410041.1_Missense_Mutation_p.G563D|DYSF_ENST00000429174.2_Missense_Mutation_p.G545D|DYSF_ENST00000409744.1_Missense_Mutation_p.G532D|DYSF_ENST00000413539.2_Missense_Mutation_p.G576D|DYSF_ENST00000410020.3_Missense_Mutation_p.G563D|DYSF_ENST00000394120.2_Missense_Mutation_p.G546D|DYSF_ENST00000409366.1_Missense_Mutation_p.G546D|DYSF_ENST00000409651.1_Missense_Mutation_p.G577D|DYSF_ENST00000409582.3_Missense_Mutation_p.G562D|DYSF_ENST00000409762.1_Missense_Mutation_p.G562D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	545						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTCAACACAGGCAAGGTAAGC	0.627													38	53					0	0	0	0	A	71778282	G	A	71778282	3	1	108	1	0	0	0	0	1	0	0	0	4895	1203	42	4	1896	4	DYSF	2	71778282	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	20523232	71778282	171421091	18	20664											
PTCD3	55037	broad.mit.edu	37	chr2	86352147	86352147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacgctgagagaatcttttCtctaatgccagagaaaaatg	15	10	8	8	1	2	3	0	1	2	2	3	5	2	3	1	0	2	1	1	0	5	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:86352147C>T	ENST00000254630.7	+	10	812	c.746C>T	c.(745-747)tCt>tTt	p.S249F	PTCD3_ENST00000409277.3_Missense_Mutation_p.L208F	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	249						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						AGAATCTTTTCTCTAATGCCA	0.368													5	35					0	0	0	0	T	86352147	C	T	86352147	3	4	108	1	0	0	0	0	1	0	0	0	12808	913	32	2	784	2	PTCD3	2	86352147	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	14573865	86352147	156847226	19	20665											
SMYD1	150572	broad.mit.edu	37	chr2	88407935	88407935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgggcatggccgtgatGcgggcagggctgaccaactg	8	6	16	11	2	0	2	0	2	0	0	0	2	0	2	2	4	3	3	2	4	2	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:88407935G>A	ENST00000419482.2	+	9	1276	c.1191G>A	c.(1189-1191)atG>atA	p.M397I	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.M384I	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGGCCGTGATGCGGGCAGGGC	0.542													29	36					0	0	0	0	A	88407935	G	A	88407935	3	1	108	1	0	0	0	0	1	0	0	0	14909	1319	46	4	1225	4	SMYD1	2	88407935	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	2055788	88407935	154791438	20	20666											
BUB1	699	broad.mit.edu	37	chr2	111416240	111416240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggctgcactttggatggCgttgcctgaaccattcccag	7	11	12	11	1	0	1	0	1	0	0	1	3	1	2	3	3	3	3	3	3	1	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:111416240C>T	ENST00000535254.1	-	11	1363	c.1296G>A	c.(1294-1296)acG>acA	p.T432T	BUB1_ENST00000302759.6_Silent_p.T452T|BUB1_ENST00000409311.1_Silent_p.T452T	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	452					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.T452T(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CTTTGGATGGCGTTGCCTGAA	0.433													17	34					0	0	0	0	T	111416240	C	T	111416240	2	4	108	1	0	0	0	0	0	0	0	1	1579	755	27	1		1	BUB1	2	111416240	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	23008305	111416240	131783133	21	20667											
CACNB4	785	broad.mit.edu	37	chr2	152698521	152698521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggttgtgtgggtggcacGccagtacgcctccaggtact	6	10	14	11	2	0	0	0	0	0	0	1	0	1	0	3	4	2	4	3	4	2	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:152698521G>A	ENST00000360283.6	-	12	1356	c.1099C>T	c.(1099-1101)Cgt>Tgt	p.R367C	CACNB4_ENST00000539935.1_Missense_Mutation_p.R400C|CACNB4_ENST00000397327.2_Missense_Mutation_p.R353C|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000427385.1_Missense_Mutation_p.R382C|CACNB4_ENST00000534999.1_Missense_Mutation_p.R366C			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	400					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TGGGTGGCACGCCAGTACGCC	0.493													25	63					0	0	0	0	A	152698521	G	A	152698521	3	1	108	1	0	0	0	0	1	0	0	0	2580	1087	38	1	372	1	CACNB4	2	152698521	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	41282281	152698521	90500852	22	20668											
SCN2A	6326	broad.mit.edu	37	chr2	166172118	166172118	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaaaaacagaagaaagaaAaagaaacagaaagaacagtc	26	2	8	5	0	0	7	0	1	0	6	1	7	0	7	0	0	3	0	0	0	9	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:166172118A>G	ENST00000375437.2	+	11	1811	c.1521A>G	c.(1519-1521)aaA>aaG	p.K507K	SCN2A_ENST00000375427.2_Silent_p.K507K|SCN2A_ENST00000357398.3_Silent_p.K507K|SCN2A_ENST00000283256.6_Silent_p.K507K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	507					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	gaagaaagaaaaagaaacaga	0.388													14	29					0	0	0	0	G	166172118	A	G	166172118	2	3	108	1	0	0	0	0	0	0	0	1	14003	11	1	5		5	SCN2A	2	166172118	Silent	SNP	A	TCGA-CN-6995-01A-31D-2012-08	13473597	166172118	77027255	23	20669											
ABCB11	8647	broad.mit.edu	37	chr2	169787239	169787239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgctagtgcttttgccacatCcactgctcccaacaaacgcc	9	10	6	16	1	0	0	0	0	0	0	2	0	2	0	4	0	6	3	4	0	3	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:169787239C>T	ENST00000263817.6	-	25	3471	c.3347G>A	c.(3346-3348)gGa>gAa	p.G1116E		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1116	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTTGCCACATCCACTGCTCCC	0.463													6	19					0	0	0	0	T	169787239	C	T	169787239	3	4	108	1	0	0	0	0	1	0	0	0	42	855	30	2	634	2	ABCB11	2	169787239	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	3615121	169787239	73412134	24	20670											
TTN	7273	broad.mit.edu	37	chr2	179650467	179650467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttagatctgtagttttcttGatctgcattgaaatgaaact	11	17	8	5	0	3	4	0	3	3	1	3	4	3	4	0	0	2	4	0	0	4	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:179650467G>A	ENST00000589042.1	-	15	2597	c.2373C>T	c.(2371-2373)atC>atT	p.I791I	TTN_ENST00000460472.2_Silent_p.I745I|TTN_ENST00000359218.5_Silent_p.I745I|TTN_ENST00000591111.1_Silent_p.I791I|TTN_ENST00000342175.6_Silent_p.I745I|TTN_ENST00000342992.6_Silent_p.I791I|TTN_ENST00000360870.5_Silent_p.I791I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	791							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)			TAGTTTTCTTGATCTGCATTG	0.413													12	66					0	0	0	0	A	179650467	G	A	179650467	2	1	108	1	0	0	0	0	0	0	0	1	16831	1280	45	2		2	TTN	2	179650467	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	9863228	179650467	63548906	25	20671											
XRCC5	7520	broad.mit.edu	37	chr2	216986930	216986930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatagtgaaaatggtgatgAtatctttagaaggtgaagat	16	12	12	1	0	1	7	0	4	1	3	1	7	1	7	0	2	0	0	0	2	7	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:216986930A>G	ENST00000392133.3	+	8	1098	c.637A>G	c.(637-639)Ata>Gta	p.I213V	XRCC5_ENST00000392132.2_Missense_Mutation_p.I213V			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	213					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AATGGTGATGATATCTTTAGA	0.383								Non-homologous end-joining					14	49					0	0	0	0	G	216986930	A	G	216986930	3	3	108	1	0	0	0	0	1	0	0	0	17552	333	12	5	659	5	XRCC5	2	216986930	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	37336463	216986930	26212443	26	20672											
SLC4A3	6508	broad.mit.edu	37	chr2	220493179	220493179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagacgtggaggaggaggAcgatgacttgggcaagacct	11	6	16	8	2	0	3	0	1	0	2	1	8	1	7	2	5	0	1	2	5	1	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:220493179A>G	ENST00000358055.3	+	3	616	c.104A>G	c.(103-105)gAc>gGc	p.D35G	SLC4A3_ENST00000373760.2_Missense_Mutation_p.D35G|SLC4A3_ENST00000317151.3_Missense_Mutation_p.D35G|SLC4A3_ENST00000273063.6_Missense_Mutation_p.D35G|SLC4A3_ENST00000373762.3_Missense_Mutation_p.D35G			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	35					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGAGGAGGACGATGACTTG	0.657													5	19					0	0	0	0	G	220493179	A	G	220493179	3	3	108	1	0	0	0	0	1	0	0	0	14743	275	10	5	110	5	SLC4A3	2	220493179	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	3506249	220493179	22706194	27	20673											
UGT1A6	54578	broad.mit.edu	37	chr2	234680964	234680964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggaccgcccggtggagcCgctggacctggccgtgttct	5	7	15	14	4	1	0	0	0	1	0	1	3	1	3	5	5	1	2	5	5	1	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr2:234680964C>T	ENST00000305139.6	+	5	1497	c.1358C>T	c.(1357-1359)cCg>cTg	p.P453L	UGT1A1_ENST00000305208.5_Missense_Mutation_p.P454L|UGT1A6_ENST00000373424.1_Missense_Mutation_p.P186L|UGT1A7_ENST00000373426.3_Missense_Mutation_p.P451L|UGT1A4_ENST00000373409.3_Missense_Mutation_p.P455L|UGT1A8_ENST00000373450.4_Missense_Mutation_p.P451L|UGT1A9_ENST00000354728.4_Missense_Mutation_p.P451L|UGT1A10_ENST00000344644.5_Missense_Mutation_p.P451L|UGT1A5_ENST00000373414.3_Missense_Mutation_p.P455L|UGT1A3_ENST00000482026.1_Missense_Mutation_p.P455L	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		CCGGTGGAGCCGCTGGACCTG	0.587													15	84					0	0	0	0	T	234680964	C	T	234680964	3	4	108	1	0	0	0	0	1	0	0	0	17045	652	23	1	1376	1	UGT1A6	2	234680964	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	14187785	234680964	8518409	28	20674											
IL5RA	3568	broad.mit.edu	37	chr3	3146617	3146617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtaagtcagcttgcaGtatctcagtggcccccaaaa	13	8	10	10	0	2	0	2	0	1	0	3	1	2	1	2	2	2	4	2	2	5	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:3146617G>T	ENST00000446632.2	-	3	626	c.52C>A	c.(52-54)Ctg>Atg	p.L18M	IL5RA_ENST00000430514.2_Missense_Mutation_p.L18M|IL5RA_ENST00000418488.2_Missense_Mutation_p.L18M|IL5RA_ENST00000383846.1_Missense_Mutation_p.L18M|IL5RA_ENST00000456302.1_Missense_Mutation_p.L18M|IL5RA_ENST00000445864.2_Missense_Mutation_p.L18M|IL5RA_ENST00000438560.1_Missense_Mutation_p.L18M|IL5RA_ENST00000311981.8_Missense_Mutation_p.L18M|IL5RA_ENST00000256452.3_Missense_Mutation_p.L18M	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	18					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TCAGCTTGCAGTATCTCAGTG	0.333													7	12					5.68852e-11	7.15653e-11	1	0	T	3146617	G	T	3146617	3	4	108	1	0	0	0	0	1	0	0	0	7753	1020	36	4	1276	4	IL5RA	3	3146617	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08		3146617	194875813	29	20675											
FLNB	2317	broad.mit.edu	37	chr3	58109357	58109357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttccccgcccgggtcaagGtggagcccgccgtggacacc	6	5	13	17	4	1	0	1	0	0	0	2	2	2	2	6	4	1	0	6	4	1	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:58109357G>A	ENST00000357272.4	+	21	3829	c.3664G>A	c.(3664-3666)Gtg>Atg	p.V1222M	FLNB_ENST00000493452.1_Missense_Mutation_p.V1053M|FLNB_ENST00000490882.1_Missense_Mutation_p.V1222M|FLNB_ENST00000348383.5_Missense_Mutation_p.V1222M|FLNB_ENST00000295956.4_Missense_Mutation_p.V1222M|FLNB_ENST00000358537.3_Missense_Mutation_p.V1222M|FLNB_ENST00000429972.2_Missense_Mutation_p.V1222M|FLNB_ENST00000419752.2_Missense_Mutation_p.V1053M			O75369	FLNB_HUMAN	filamin B, beta	1222	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCGGGTCAAGGTGGAGCCCGC	0.517													16	33					0	0	0	0	A	58109357	G	A	58109357	3	1	108	1	0	0	0	0	1	0	0	0	5979	1261	44	4	3746	4	FLNB	3	58109357	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	54962740	58109357	139913073	30	20676											
FOXP1	27086	broad.mit.edu	37	chr3	71019957	71019957	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttaataagggaagggttaCtgtgtaagaaaaacataaaa	19	11	9	2	0	0	1	0	0	0	1	0	2	0	2	0	2	2	2	0	2	9	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:71019957C>T	ENST00000318789.4	-	19	2178		c.e19-1		FOXP1_ENST00000493089.1_Splice_Site|FOXP1_ENST00000491238.1_Splice_Site|FOXP1_ENST00000498215.1_Splice_Site|FOXP1_ENST00000475937.1_Splice_Site|FOXP1_ENST00000484350.1_Splice_Site|FOXP1_ENST00000468577.1_Intron	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGAAGGGTTACTGTGTAAGAA	0.433			T	PAX5	ALL								24	40					0	0	0	0	T	71019957	C	T	71019957	5	4	108	1	0	0	0	0	0	0	1	0	6073	579	20	4	393	4	FOXP1	3	71019957	Splice_Site	SNP	C	TCGA-CN-6995-01A-31D-2012-08	12910600	71019957	127002473	31	20677											
MYH15	22989	broad.mit.edu	37	chr3	108163738	108163738	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattggatcaaaataagtgCatccctaaatcaagaaagaa	19	8	6	8	0	2	2	2	0	0	2	3	3	3	3	2	1	1	1	2	1	8	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:108163738C>A	ENST00000273353.3	-	23	2520	c.2464G>T	c.(2464-2466)Gca>Tca	p.A822S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	822	IQ.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAAATAAGTGCATCCCTAAAT	0.373													18	28					1.2644e-06	1.45035e-06	1	0	A	108163738	C	A	108163738	3	1	108	1	0	0	0	0	1	0	0	0	10104	710	25	4	3456	4	MYH15	3	108163738	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	37143781	108163738	89858692	32	20678											
DPPA2	151871	broad.mit.edu	37	chr3	109031513	109031513	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaaatcacactttcctcAtcatctacttccccctccaa	11	12	1	17	0	5	0	4	0	1	0	8	0	8	0	4	0	1	0	4	0	4	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:109031513A>T	ENST00000478945.1	-	3	306	c.60T>A	c.(58-60)gaT>gaA	p.D20E		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	20						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACTTTCCTCATCATCTACTT	0.408													8	82					0	0	0	0	T	109031513	A	T	109031513	3	4	108	1	0	0	0	0	1	0	0	0	4770	214	8	5	860	5	DPPA2	3	109031513	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	867775	109031513	88990917	33	20679											
NPHP3	27031	broad.mit.edu	37	chr3	132435712	132435712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctatggaaggttcacttcCcaaggctccgccagtccaat	9	10	8	14	1	1	0	1	0	0	0	5	1	5	1	5	3	0	2	5	3	4	3	rs147399998		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:132435712C>T	ENST00000326682.8	-	4	788	c.712G>A	c.(712-714)Gga>Aga	p.G238R	NPHP3_ENST00000337331.5_Missense_Mutation_p.G238R			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	238					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTTCACTTCCCAAGGCTCCG	0.448													6	38					0	0	0	0	T	132435712	C	T	132435712	3	4	108	1	0	0	0	0	1	0	0	0	10650	632	22	4	3376	4	NPHP3	3	132435712	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	23404199	132435712	65586718	34	20680											
ATR	545	broad.mit.edu	37	chr3	142242944	142242944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagagcaaccgagcttgaGagtttgcatcttggcaacct	11	9	10	11	1	1	2	0	1	1	2	1	4	1	2	2	1	5	5	2	1	2	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:142242944G>A	ENST00000350721.4	-	22	4164	c.4043C>T	c.(4042-4044)tCt>tTt	p.S1348F	ATR_ENST00000383101.3_Missense_Mutation_p.S1284F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1348					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCGAGCTTGAGAGTTTGCATC	0.413								Other conserved DNA damage response genes					7	63					0	0	0	0	A	142242944	G	A	142242944	3	1	108	1	0	0	0	0	1	0	0	0	1208	942	33	2	3995	2	ATR	3	142242944	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	9807232	142242944	55779486	35	20681											
SI	6476	broad.mit.edu	37	chr3	164735374	164735374	+	Frame_Shift_Del	DEL	C	C	-																															caccatagcgtcatataattCccgaacctctgaagtatttg																										TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:164735374delC	ENST00000264382.3	-	31	3783	c.3721delG	c.(3721-3723)aafs	p.E1241fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1241	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCATATAATTCCCGAACCTCT	0.338										HNSCC(35;0.089)			24	22	---	---	---	---					-	164735374	C	-	164735374	7	5	108	1	0	1	0	1	0	0	0	0	14385	864	30	0	1834	0	SI	3	164735374	Frame_Shift_Del	DEL	C	TCGA-CN-6995-01A-31D-2012-08	22492430	164735374	33287056	36	20682											
MECOM	2122	broad.mit.edu	37	chr3	168838941	168838941	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccgggcatgcatgggcccgGgcaccgacatgctgagagcg	7	5	16	13	4	0	1	0	1	0	1	1	3	1	1	3	3	3	4	3	3	0	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:168838941G>T	ENST00000464456.1	-	6	1671	c.471C>A	c.(469-471)gcC>gcA	p.A157A	MECOM_ENST00000494292.1_Silent_p.A345A|MECOM_ENST00000468789.1_Silent_p.A157A|MECOM_ENST00000472280.1_Silent_p.A158A|MECOM_ENST00000460814.1_Silent_p.A157A|MECOM_ENST00000433243.2_Silent_p.A158A|MECOM_ENST00000392736.3_Silent_p.A157A|MECOM_ENST00000264674.3_Silent_p.A222A	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATGGGCCCGGGCACCGACAT	0.512													49	47					3.21987e-24	4.48482e-24	1	0	T	168838941	G	T	168838941	2	4	108	1	0	0	0	0	0	0	0	1	9491	1219	43	4		4	MECOM	3	168838941	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	4103567	168838941	29183489	37	20683											
OPA1	4976	broad.mit.edu	37	chr3	193332569	193332569	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaaaggaagtttaccactAcaaaaactacatctggtttc	17	11	5	8	0	1	0	0	0	1	0	2	1	1	1	1	2	4	2	1	2	8	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr3:193332569A>T	ENST00000361510.2	+	2	324	c.90A>T	c.(88-90)ctA>ctT	p.L30L	OPA1_ENST00000361150.2_Silent_p.L30L|OPA1_ENST00000361715.2_Silent_p.L30L|OPA1_ENST00000361908.3_Silent_p.L30L|OPA1_ENST00000392438.3_Silent_p.L30L|OPA1_ENST00000361828.2_Silent_p.L30L	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	30					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTTTACCACTACAAAAACTAC	0.388													47	46					0	0	0	0	T	193332569	A	T	193332569	2	4	108	1	0	0	0	0	0	0	0	1	10942	378	14	5		5	OPA1	3	193332569	Silent	SNP	A	TCGA-CN-6995-01A-31D-2012-08	24493628	193332569	4689861	38	20684											
ATP8A1	10396	broad.mit.edu	37	chr4	42576696	42576696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttacattgcatgtcagagtaCcagttttgtcagaaaatatg	13	14	8	6	0	2	2	2	0	0	2	2	2	2	2	1	0	3	3	1	0	5	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:42576696C>G	ENST00000381668.5	-	14	1466	c.1235G>C	c.(1234-1236)gGt>gCt	p.G412A	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G412A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	412					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGTCAGAGTACCAGTTTTGTC	0.323													4	24					0	0	0	0	G	42576696	C	G	42576696	3	3	108	1	0	0	0	0	1	0	0	0	1196	507	18	4	2355	4	ATP8A1	4	42576696	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08		42576696	148577580	39	20685											
UBA6	55236	broad.mit.edu	37	chr4	68490770	68490770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtataattttaccagctatgCgctttgttttgaaacggtca	10	16	8	7	2	1	1	1	1	0	0	1	1	1	1	1	1	4	4	1	1	5	8	rs140996878		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:68490770C>T	ENST00000322244.4	-	29	2713	c.2654G>A	c.(2653-2655)cGc>cAc	p.R885H		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	885					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.R885H(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ACCAGCTATGCGCTTTGTTTT	0.373													8	45					0	0	0	0	T	68490770	C	T	68490770	3	4	108	1	0	0	0	0	1	0	0	0	16928	768	27	1	524	1	UBA6	4	68490770	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	25914074	68490770	122663506	40	20686											
SLC4A4	8671	broad.mit.edu	37	chr4	72420881	72420881	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacccatgcctgtactctatGgtgtgttcctgtatatggga	7	15	10	9	0	1	0	0	0	1	0	2	1	2	1	3	2	3	3	3	2	5	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:72420881G>C	ENST00000340595.3	+	18	2783	c.2587G>C	c.(2587-2589)Ggt>Cgt	p.G863R	SLC4A4_ENST00000351898.6_Missense_Mutation_p.G823R|SLC4A4_ENST00000264485.5_Missense_Mutation_p.G907R|SLC4A4_ENST00000425175.1_Missense_Mutation_p.G907R	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	907						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGTACTCTATGGTGTGTTCCT	0.328													28	210					0	0	0	0	C	72420881	G	C	72420881	3	2	108	1	0	0	0	0	1	0	0	0	14744	1348	47	4	2918	4	SLC4A4	4	72420881	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	3930111	72420881	118733395	41	20687											
CXCL1	2919	broad.mit.edu	37	chr4	74735491	74735491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcccccggaccccactGcgcccaaaccgaagtcatgt	10	5	9	17	3	1	0	1	0	0	0	2	3	2	1	6	1	2	0	6	1	3	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:74735491G>A	ENST00000395761.3	+	2	273	c.206G>A	c.(205-207)tGc>tAc	p.C69Y	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	69					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GGACCCCACTGCGCCCAAACC	0.652													65	101					0	0	0	0	A	74735491	G	A	74735491	3	1	108	1	0	0	0	0	1	0	0	0	4109	1319	46	4	212	4	CXCL1	4	74735491	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	2314610	74735491	116418785	42	20688											
FGF5	2250	broad.mit.edu	37	chr4	81196135	81196135	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcagcaacaaatttttagCgatgtcaaaaaaaggaaaac	19	10	6	6	1	2	0	2	0	0	0	2	2	2	1	0	1	4	1	0	1	8	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:81196135C>G	ENST00000312465.7	+	2	654	c.428C>G	c.(427-429)gCg>gGg	p.A143G	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_Intron	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	143					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AAATTTTTAGCGATGTCAAAA	0.318													6	14					0	0	0	0	G	81196135	C	G	81196135	3	3	108	1	0	0	0	0	1	0	0	0	5900	768	27	3	434	3	FGF5	4	81196135	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	6460644	81196135	109958141	43	20689											
HERC6	55008	broad.mit.edu	37	chr4	89326088	89326088	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataagccgaattagccagTccatggcagaaaaatggata	18	7	9	7	1	0	1	0	0	0	1	1	3	1	2	3	2	2	1	3	2	7	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr4:89326088T>A	ENST00000380265.5	+	9	1336	c.1153T>A	c.(1153-1155)Tcc>Acc	p.S385T	HERC6_ENST00000264346.7_Missense_Mutation_p.S385T	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	385					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AATTAGCCAGTCCATGGCAGA	0.428													21	45					0	0	0	0	A	89326088	T	A	89326088	3	1	108	1	0	0	0	0	1	0	0	0	7112	1667	58	5	984	5	HERC6	4	89326088	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	8129953	89326088	101828188	44	20690											
ANKRD34B	340120	broad.mit.edu	37	chr5	79855683	79855683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgatcgacatgtttggtCttacaagcgatcattaaagg	11	13	11	6	2	2	1	1	1	1	0	3	3	2	1	0	3	2	1	0	3	4	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:79855683C>T	ENST00000338682.3	-	5	828	c.156G>A	c.(154-156)aaG>aaA	p.K52K		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	52						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CATGTTTGGTCTTACAAGCGA	0.463													23	143					0	0	0	0	T	79855683	C	T	79855683	2	4	108	1	0	0	0	0	0	0	0	1	662	912	32	2		2	ANKRD34B	5	79855683	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08		79855683	101059577	45	20691											
MEF2C	4208	broad.mit.edu	37	chr5	88047801	88047801	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagggttgctgtacaccaaActgttgtggctggacactgg	9	10	13	9	0	0	0	0	0	0	0	0	1	0	1	1	4	3	5	1	4	2	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:88047801A>C	ENST00000504921.2	-	5	1134	c.462T>G	c.(460-462)agT>agG	p.S154R	MEF2C_ENST00000514015.1_Missense_Mutation_p.S154R|MEF2C_ENST00000340208.5_Missense_Mutation_p.S172R|MEF2C_ENST00000514028.1_Missense_Mutation_p.S154R|MEF2C_ENST00000506554.1_Missense_Mutation_p.S154R|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000539796.1_Missense_Mutation_p.S106R|MEF2C_ENST00000510942.1_Missense_Mutation_p.S154R|MEF2C_ENST00000437473.2_Missense_Mutation_p.S154R|MEF2C_ENST00000508569.1_Missense_Mutation_p.S154R|MEF2C_ENST00000424173.2_Missense_Mutation_p.S152R			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	154	Ser-rich.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGTACACCAAACTGTTGTGGC	0.493										HNSCC(66;0.2)			13	89					0	0	0	0	C	88047801	A	C	88047801	3	2	108	1	0	0	0	0	1	0	0	0	9526	40	2	5	987	5	MEF2C	5	88047801	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	8192118	88047801	92867459	46	20692											
MCTP1	79772	broad.mit.edu	37	chr5	94288963	94288963	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagatgatcaaccagaataCaagctttttcttcccacaca	15	11	4	11	0	2	3	1	1	1	2	3	3	3	3	2	0	3	1	2	0	5	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:94288963C>G	ENST00000515393.1	-	3	940	c.941G>C	c.(940-942)tGt>tCt	p.C314S	MCTP1_ENST00000505208.1_Missense_Mutation_p.C93S|MCTP1_ENST00000312216.8_Missense_Mutation_p.C93S|MCTP1_ENST00000429576.2_Missense_Mutation_p.C93S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	314	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AACCAGAATACAAGCTTTTTC	0.368													6	21					0	0	0	0	G	94288963	C	G	94288963	3	3	108	1	0	0	0	0	1	0	0	0	9469	478	17	4	2142	4	MCTP1	5	94288963	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	6241162	94288963	86626297	47	20693											
RFESD	317671	broad.mit.edu	37	chr5	94989858	94989858	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattaaaaaatctgaaagAatgacagctgttgtccatga	17	10	8	6	0	1	4	0	3	1	1	2	5	2	4	1	0	1	2	1	0	5	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:94989858A>T	ENST00000458310.1	+	4	1583	c.252A>T	c.(250-252)agA>agT	p.R84S	SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000513950.2_Missense_Mutation_p.R31S|RFESD_ENST00000380005.4_Missense_Mutation_p.R84S|RFESD_ENST00000311364.4_Missense_Mutation_p.R31S	NM_001131065.1	NP_001124537.1	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing	31	Rieske 1.|Rieske 2.						2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity			autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		AATCTGAAAGAATGACAGCTG	0.383													8	34					0	0	0	0	T	94989858	A	T	94989858	3	4	108	1	0	0	0	0	1	0	0	0	13331	243	9	5	262	5	RFESD	5	94989858	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	700895	94989858	85925402	48	20694											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741362	140741362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcctgcgcgtgttagtgggcGacctcaatgacaatgcgcca	8	8	13	12	4	1	1	1	1	0	0	1	2	1	1	3	1	2	1	3	1	3	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:140741362G>C	ENST00000522605.1	+	1	1660	c.1660G>C	c.(1660-1662)Gac>Cac	p.D554H	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTAGTGGGCGACCTCAATGA	0.687													41	58					0	0	0	0	C	140741362	G	C	140741362	3	2	108	1	0	0	0	0	1	0	0	0	11634	1058	37	3	1662	3	PCDHGB2	5	140741362	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	45751504	140741362	40173898	49	20695											
PCDHGC4	56098	broad.mit.edu	37	chr5	140866933	140866933	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttcctgctggcacctgTgcctgtctcaccagatctcg	4	13	9	15	1	2	1	1	0	2	1	5	1	3	1	4	1	3	3	4	1	0	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:140866933T>C	ENST00000306593.1	+	1	2193	c.2193T>C	c.(2191-2193)tgT>tgC	p.C731C	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCACCTGTGCCTGTCTCA	0.537													8	61					0	0	0	0	C	140866933	T	C	140866933	2	2	108	1	0	0	0	0	0	0	0	1	11641	1702	59	5		5	PCDHGC4	5	140866933	Silent	SNP	T	TCGA-CN-6995-01A-31D-2012-08	125571	140866933	40048327	50	20696											
ARAP3	64411	broad.mit.edu	37	chr5	141033932	141033932	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccctacttcctcatacActggctcctcgtacacaggc	8	9	7	17	1	1	0	1	0	0	0	4	0	3	0	4	3	3	2	4	3	3	4	rs142227089		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:141033932A>G	ENST00000239440.4	-	33	4285	c.4220T>C	c.(4219-4221)gTg>gCg	p.V1407A	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.V1238A|ARAP3_ENST00000513878.1_Missense_Mutation_p.V1056A	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1407					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTCCTCATACACTGGCTCCTC	0.582													10	91					0	0	0	0	G	141033932	A	G	141033932	3	3	108	1	0	0	0	0	1	0	0	0	842	159	6	5	418	5	ARAP3	5	141033932	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	166999	141033932	39881328	51	20697											
SH3TC2	79628	broad.mit.edu	37	chr5	148406412	148406412	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atagcttcccagcagcatggGacatacttactctttagatg	11	12	8	10	0	1	1	0	0	1	1	2	2	2	2	1	1	5	3	1	1	4	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr5:148406412G>A	ENST00000394358.2	-	12	2990	c.2538C>T	c.(2536-2538)gtC>gtT	p.V846V	SH3TC2_ENST00000538184.1_Intron|SH3TC2_ENST00000515425.1_Intron|SH3TC2_ENST00000512049.1_Intron			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	0							binding			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)			AGCAGCATGGGACATACTTAC	0.433													20	126					0	0	0	0	A	148406412	G	A	148406412	2	1	108	1	0	0	0	0	0	0	0	1	14350	1189	41	2		2	SH3TC2	5	148406412	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	7372480	148406412	32508848	52	20698											
SERPINB6	5269	broad.mit.edu	37	chr6	2948568	2948568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggccgcagaagagaatcccGttggtcttgctgtgctggat	7	10	14	10	3	1	2	0	0	1	2	2	4	2	3	2	3	2	4	2	3	2	2	rs145397970	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:2948568G>T	ENST00000380520.1	-	6	3089	c.1095C>A	c.(1093-1095)aaC>aaA	p.N365K	SERPINB6_ENST00000380529.1_Missense_Mutation_p.N365K|SERPINB6_ENST00000380546.3_Missense_Mutation_p.N365K|SERPINB6_ENST00000335686.5_Missense_Mutation_p.N365K|SERPINB6_ENST00000380539.1_Missense_Mutation_p.N365K|SERPINB6_ENST00000380524.1_Missense_Mutation_p.N365K			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	365					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	AGAGAATCCCGTTGGTCTTGC	0.602													34	36					5.97227e-30	8.46976e-30	1	0	T	2948568	G	T	2948568	3	4	108	1	0	0	0	0	1	0	0	0	14192	1136	40	3	39	3	SERPINB6	6	2948568	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08		2948568	168166499	53	20699											
HIST1H3D	8351	broad.mit.edu	37	chr6	26197234	26197234	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagctctgaaaacgcagaTcagtcttgaagtcctgcgcg	10	8	11	12	4	3	3	1	2	2	1	4	4	4	3	2	0	3	2	2	0	3	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:26197234T>A	ENST00000377831.5	-	2	698	c.245A>T	c.(244-246)gAt>gTt	p.D82V	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.D82V	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	82					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				AAAACGCAGATCAGTCTTGAA	0.607													18	88					0	0	0	0	A	26197234	T	A	26197234	3	1	108	1	0	0	0	0	1	0	0	0	7208	1435	50	5	169	5	HIST1H3D	6	26197234	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	23248666	26197234	144917833	54	20700											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271403	26271403	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagcgatttctcgcaccagGcgttggaaaggcaacttgcg	9	9	13	10	4	1	1	0	1	1	0	2	3	1	2	1	3	3	3	1	3	2	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:26271403G>A	ENST00000305910.3	-	1	209	c.210C>T	c.(208-210)cgC>cgT	p.R70R		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	70				R -> C (in Ref. 13; AAH67493).	blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTCGCACCAGGCGTTGGAAAG	0.602													12	138					0	0	0	0	A	26271403	G	A	26271403	2	1	108	1	0	0	0	0	0	0	0	1	7211	1190	42	4		4	HIST1H3G	6	26271403	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	74169	26271403	144843664	55	20701											
OR10C1	442194	broad.mit.edu	37	chr6	29407954	29407954	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctccactgatgctgccctCcagtcccctatgtacttctt	5	14	6	16	0	2	1	0	1	2	0	5	1	4	1	5	0	3	2	5	0	2	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:29407954C>A	ENST00000444197.2	+	1	872	c.162C>A	c.(160-162)ctC>ctA	p.L54L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATGCTGCCCTCCAGTCCCCTA	0.562													54	92					5.57489e-27	7.83498e-27	1	0	A	29407954	C	A	29407954	2	1	108	1	0	0	0	0	0	0	0	1	10969	842	30	2		2	OR10C1	6	29407954	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	3136551	29407954	141707113	56	20702											
VARS	7407	broad.mit.edu	37	chr6	31752467	31752467	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgtgaagccggacaaaggCctctgtcacagctgctgaga	10	7	12	12	2	2	2	1	2	1	1	3	4	2	3	2	2	3	2	2	2	2	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:31752467C>A	ENST00000375663.3	-	11	1812	c.1372G>T	c.(1372-1374)Gcc>Tcc	p.A458S	VARS_ENST00000444930.2_Missense_Mutation_p.A163S	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	458					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CGGACAAAGGCCTCTGTCACA	0.592													24	53					4.47668e-21	6.07271e-21	1	0	A	31752467	C	A	31752467	3	1	108	1	0	0	0	0	1	0	0	0	17219	739	26	4	2502	4	VARS	6	31752467	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	2344513	31752467	139362600	57	20703											
C2	717	broad.mit.edu	37	chr6	31912989	31912989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtctttacaacccctGccttggctctgctgacaaaa	8	11	9	13	0	2	1	0	1	2	0	2	1	2	1	3	3	4	2	3	3	4	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:31912989G>A	ENST00000299367.5	+	18	2390	c.2114G>A	c.(2113-2115)tGc>tAc	p.C705Y	C2_ENST00000442278.2_Missense_Mutation_p.C573Y|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000468407.1_Intron|C2_ENST00000469372.1_Missense_Mutation_p.C459Y|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.C491Y	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TACAACCCCTGCCTTGGCTCT	0.592													8	94					0	0	0	0	A	31912989	G	A	31912989	3	1	108	1	0	0	0	0	1	0	0	0	2094	1319	46	4	2261	4	C2	6	31912989	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	160522	31912989	139202078	58	20704											
PM20D2	135293	broad.mit.edu	37	chr6	89862895	89862895	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatgaaaccaacctggAgagttcatggtatgaatgtc	15	9	10	7	0	1	3	1	2	0	1	2	4	1	3	2	2	3	3	2	2	5	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:89862895A>T	ENST00000275072.4	+	3	843	c.748A>T	c.(748-750)Aga>Tga	p.R250*		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	250							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		ACCAACCTGGAGAGTTCATGG	0.353													18	29					0	0	0	0	T	89862895	A	T	89862895	4	4	108	1	0	0	0	0	0	1	0	0	12201	296	11	5	758	5	PM20D2	6	89862895	Nonsense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	57949906	89862895	81252172	59	20705											
EPHA7	2045	broad.mit.edu	37	chr6	94068039	94068039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcttcacattcacatctgGaggagccttctttatcagaa	11	13	6	11	0	6	1	3	0	3	1	6	3	6	3	1	2	1	0	1	2	2	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:94068039G>T	ENST00000369303.4	-	4	1107	c.923C>A	c.(922-924)tCc>tAc	p.S308Y		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	308	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S308Y(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTCACATCTGGAGGAGCCTTC	0.463													43	41					3.7052e-28	5.23087e-28	1	0	T	94068039	G	T	94068039	3	4	108	1	0	0	0	0	1	0	0	0	5210	1174	41	2	2129	2	EPHA7	6	94068039	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	4205144	94068039	77047028	60	20706											
WASF1	8936	broad.mit.edu	37	chr6	110421760	110421760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttcatcaaattctgaatCatcttccgaatcactatatt	13	16	2	10	1	6	1	4	1	2	0	7	2	7	1	1	0	1	0	1	0	6	7			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:110421760C>T	ENST00000392589.1	-	11	2481	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	WASF1_ENST00000359451.2_Missense_Mutation_p.D549N|WASF1_ENST00000392588.1_Missense_Mutation_p.D549N|WASF1_ENST00000392586.1_Missense_Mutation_p.D549N|WASF1_ENST00000392587.2_Missense_Mutation_p.D549N	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	549					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		AATTCTGAATCATCTTCCGAA	0.393													11	22					0	0	0	0	T	110421760	C	T	110421760	3	4	108	1	0	0	0	0	1	0	0	0	17348	826	29	2	38	2	WASF1	6	110421760	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	16353721	110421760	60693307	61	20707											
LAMA4	3910	broad.mit.edu	37	chr6	112537599	112537601	+	In_Frame_Del	DEL	GTT	GTT	-																															cctgagccgtccaaacactcGttggaattgccattacagtc																										TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:112537599_112537601delGTT	ENST00000230538.7	-	3	662_664	c.265_267delAAC	c.(265-267)del	p.N89del	LAMA4_ENST00000424408.2_In_Frame_Del_p.N89del|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000522006.1_In_Frame_Del_p.N89del|LAMA4_ENST00000431543.2_In_Frame_Del_p.N89del|LAMA4_ENST00000389463.4_In_Frame_Del_p.N89del	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	89	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.N89K(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCAAACACTCGTTGGAATTGCCA	0.453													24	56	---	---	---	---					-	112537601	GTT	-	112537599	7	5	108	1	0	1	0	1	0	0	0	0	8661	1136	40	0	5352	0	LAMA4	6	112537599	In_Frame_Del	DEL	GTT	TCGA-CN-6995-01A-31D-2012-08	2115839	112537599	58577468	62	20708											
PTPRK	5796	broad.mit.edu	37	chr6	128304088	128304088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtttctccacataagcagGcttctaaaatggcatcatga	13	11	7	10	0	3	1	1	1	2	0	4	1	3	1	1	2	1	4	1	2	3	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:128304088G>A	ENST00000368227.3	-	25	3842	c.3476C>T	c.(3475-3477)gCc>gTc	p.A1159V	PTPRK_ENST00000368210.3_Missense_Mutation_p.A1160V|PTPRK_ENST00000368215.3_Missense_Mutation_p.A1141V|PTPRK_ENST00000368226.4_Missense_Mutation_p.A1142V|PTPRK_ENST00000532331.1_Missense_Mutation_p.A1164V|PTPRK_ENST00000368213.5_Missense_Mutation_p.A1148V|PTPRK_ENST00000368207.3_Missense_Mutation_p.A1174V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1141					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACATAAGCAGGCTTCTAAAAT	0.333													8	68					0	0	0	0	A	128304088	G	A	128304088	3	1	108	1	0	0	0	0	1	0	0	0	12887	1203	42	4	925	4	PTPRK	6	128304088	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	15766489	128304088	42810979	63	20709											
GRM1	2911	broad.mit.edu	37	chr6	146720389	146720389	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccattctgtcctacccaagTatcaaggaagtctaccttat	11	12	5	13	0	3	0	1	0	2	0	4	1	4	1	4	1	2	1	4	1	7	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:146720389T>A	ENST00000392299.2	+	8	2684	c.2214T>A	c.(2212-2214)agT>agA	p.S738R	GRM1_ENST00000355289.4_Missense_Mutation_p.S738R|GRM1_ENST00000492807.2_Missense_Mutation_p.S738R|GRM1_ENST00000507907.1_Missense_Mutation_p.S738R|GRM1_ENST00000282753.1_Missense_Mutation_p.S738R|GRM1_ENST00000361719.2_Missense_Mutation_p.S738R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	738					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCTACCCAAGTATCAAGGAAG	0.493													46	70					0	0	0	0	A	146720389	T	A	146720389	3	1	108	1	0	0	0	0	1	0	0	0	6846	1635	57	5	2240	5	GRM1	6	146720389	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	18416301	146720389	24394678	64	20710											
LRP11	84918	broad.mit.edu	37	chr6	150184555	150184555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcgcttaccctgccggggcGaggcgcgcgcggtggccagg	3	4	19	15	8	0	0	0	0	0	0	0	1	0	0	3	6	2	1	3	6	1	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:150184555G>A	ENST00000239367.2	-	1	607	c.602C>T	c.(601-603)tCg>tTg	p.S201L	LRP11_ENST00000546019.1_Intron|LRP11_ENST00000367368.2_Missense_Mutation_p.S201L|RP11-244K5.8_ENST00000596229.1_RNA	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	201						integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CTgccggggcgaggcgcgcgc	0.736													8	15					0	0	0	0	A	150184555	G	A	150184555	3	1	108	1	0	0	0	0	1	0	0	0	9017	1059	37	1	928	1	LRP11	6	150184555	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	3464166	150184555	20930512	65	20711											
MTHFD1L	25902	broad.mit.edu	37	chr6	151239718	151239718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccaattttttacagggaagGttgggtgtggctctccaaga	9	13	12	7	0	1	1	0	0	1	1	3	2	2	2	2	4	1	2	2	4	4	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:151239718G>A	ENST00000367321.3	+	9	1172	c.898G>A	c.(898-900)Gtt>Att	p.V300I		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	300	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TACAGGGAAGGTTGGGTGTGG	0.413													28	42					0	0	0	0	A	151239718	G	A	151239718	3	1	108	1	0	0	0	0	1	0	0	0	9998	1261	44	4	932	4	MTHFD1L	6	151239718	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	1055163	151239718	19875349	66	20712											
C6orf118	168090	broad.mit.edu	37	chr6	165715503	165715503	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcctccttcatcctcGccaccttccctgcgggcggc	3	8	10	20	3	1	0	1	0	0	0	5	0	4	0	7	3	1	0	7	3	0	2	rs149637046	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:165715503G>T	ENST00000230301.8	-	2	328	c.308C>A	c.(307-309)gCg>gAg	p.A103E	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	103										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTCATCCTCGCCACCTTCCC	0.682													43	49					6.2361e-21	8.42279e-21	1	0	T	165715503	G	T	165715503	3	4	108	1	0	0	0	0	1	0	0	0	2344	1087	38	3	1133	3	C6orf118	6	165715503	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	14475785	165715503	5399564	67	20713											
PDE10A	10846	broad.mit.edu	37	chr6	165848755	165848755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttctactagcagtgttttCctggacttggccacataagc	8	14	8	11	0	2	0	0	0	2	0	3	1	3	1	2	2	3	2	2	2	3	7			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:165848755C>A	ENST00000366882.1	-	7	631	c.477G>T	c.(475-477)agG>agT	p.R159S	PDE10A_ENST00000354448.4_Missense_Mutation_p.R159S|PDE10A_ENST00000539869.2_Missense_Mutation_p.R169S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	159	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GCAGTGTTTTCCTGGACTTGG	0.458													11	60					0.000151284	0.000165038	1	0	A	165848755	C	A	165848755	3	1	108	1	0	0	0	0	1	0	0	0	11701	854	30	2	1930	2	PDE10A	6	165848755	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	133252	165848755	5266312	68	20714											
TCP10L2	401285	broad.mit.edu	37	chr6	167595389	167595389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgccgctccctccagacaGgacatggggccctgacctgg	7	6	12	16	1	0	2	0	1	0	1	2	3	2	3	5	4	1	1	5	4	0	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr6:167595389G>A	ENST00000366832.2	+	8	1178	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	349										endometrium(1)|kidney(2)|lung(3)	6						CCTCCAGACAGGACATGGGGC	0.517													18	8					0	0	0	0	A	167595389	G	A	167595389	2	1	108	1	0	0	0	0	0	0	0	1	15806	991	35	4		4	TCP10L2	6	167595389	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	1746634	167595389	3519678	69	20715											
NXPH1	30010	broad.mit.edu	37	chr7	8791022	8791022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtagatcatggcaatGggacatttagtgtttatttc	12	16	9	4	0	1	1	1	0	0	1	2	2	1	2	0	2	0	3	0	2	5	7			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:8791022G>T	ENST00000405863.1	+	3	1350	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.G30W	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	147	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TCATGGCAATGGGACATTTAG	0.393													15	50					2.32078e-09	2.81745e-09	1	0	T	8791022	G	T	8791022	3	4	108	1	0	0	0	0	1	0	0	0	10861	1348	47	4	445	4	NXPH1	7	8791022	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08		8791022	150347641	70	20716											
SP4	6671	broad.mit.edu	37	chr7	21469118	21469118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctccactcctcctgcttCaaaagagaataacgtttctc	10	12	5	14	1	2	1	1	0	1	1	6	2	5	1	4	0	3	2	4	0	4	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:21469118C>T	ENST00000222584.3	+	3	553	c.335C>T	c.(334-336)tCa>tTa	p.S112L		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	112					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CCTCCTGCTTCAAAAGAGAAT	0.438													17	56					0	0	0	0	T	21469118	C	T	21469118	3	4	108	1	0	0	0	0	1	0	0	0	15054	838	29	2	345	2	SP4	7	21469118	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	12678096	21469118	137669545	71	20717											
GPR141	353345	broad.mit.edu	37	chr7	37780667	37780667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccaggagttctgggctcaGctgaaaaacctattttttat	11	13	8	9	0	2	1	1	1	1	0	2	2	2	2	2	2	2	3	2	2	4	5	rs145445554	byFrequency	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:37780667G>T	ENST00000447769.1	+	4	961	c.672G>T	c.(670-672)caG>caT	p.Q224H	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.Q224H|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	224						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGGGCTCAGCTGAAAAACC	0.438													43	110					2.35958e-20	3.17323e-20	1	0	T	37780667	G	T	37780667	3	4	108	1	0	0	0	0	1	0	0	0	6698	962	34	4	674	4	GPR141	7	37780667	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	16311549	37780667	121357996	72	20718											
COBL	23242	broad.mit.edu	37	chr7	51097136	51097136	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attggaaaacaaccccgaatCcacaggatcatctgaaactt	16	8	6	11	1	2	1	1	1	1	0	3	4	3	3	3	2	3	0	3	2	5	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:51097136C>G	ENST00000395542.2	-	12	2087	c.1903G>C	c.(1903-1905)Gat>Cat	p.D635H	COBL_ENST00000265136.7_Missense_Mutation_p.D553H			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	553										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AACCCCGAATCCACAGGATCA	0.527													22	55					0	0	0	0	G	51097136	C	G	51097136	3	3	108	1	0	0	0	0	1	0	0	0	3683	855	30	2	2144	2	COBL	7	51097136	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	13316469	51097136	108041527	73	20719											
ZNF679	168417	broad.mit.edu	37	chr7	63721218	63721218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttaataaaacaggtattgCtgtctctaagccagacttga	13	13	7	8	0	2	2	0	1	2	1	3	2	2	2	1	1	3	2	1	1	5	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:63721218C>T	ENST00000421025.1	+	4	442	c.173C>T	c.(172-174)gCt>gTt	p.A58V	ZNF679_ENST00000255746.4_Missense_Mutation_p.A58V	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ACAGGTATTGCTGTCTCTAAG	0.333													14	49					0	0	0	0	T	63721218	C	T	63721218	3	4	108	1	0	0	0	0	1	0	0	0	18181	797	28	4	183	4	ZNF679	7	63721218	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	12624082	63721218	95417445	74	20720											
CLDN3	1365	broad.mit.edu	37	chr7	73183873	73183873	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcagctgcagcgccgcGgccgcccagcccacgtacag	7	2	12	20	5	0	0	0	0	0	0	0	0	0	0	5	1	6	4	5	1	1	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:73183873G>T	ENST00000395145.2	-	1	727	c.507C>A	c.(505-507)gcC>gcA	p.A169A		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	169					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				GCAGCGCCGCGGCCGCCCAGC	0.701													21	26					8.34094e-07	9.60285e-07	1	0	T	73183873	G	T	73183873	2	4	108	1	0	0	0	0	0	0	0	1	3516	1103	39	3		3	CLDN3	7	73183873	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	9462655	73183873	85954790	75	20721											
YWHAG	7532	broad.mit.edu	37	chr7	75988084	75988084	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtagcgctccgcctgctcGgccagccgggctttctgcac	3	9	12	17	5	1	0	0	0	1	0	4	0	2	0	4	2	4	5	4	2	1	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:75988084G>T	ENST00000307630.3	-	1	264	c.42C>A	c.(40-42)gcC>gcA	p.A14A		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	14					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CCGCCTGCTCGGCCAGCCGGG	0.697													17	40					6.94344e-10	8.56267e-10	1	0	T	75988084	G	T	75988084	2	4	108	1	0	0	0	0	0	0	0	1	17599	1103	39	3		3	YWHAG	7	75988084	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	2804211	75988084	83150579	76	20722											
UPK3B	80761	broad.mit.edu	37	chr7	76140092	76140092	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atggacgcgtccagccagacCcaaggggctgggggccctgc	7	4	16	14	2	0	1	0	0	0	1	1	2	1	2	4	5	2	1	4	5	1	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:76140092C>A	ENST00000419923.2	+	1	348	c.123C>A	c.(121-123)acC>acA	p.T41T	UPK3B_ENST00000394849.1_Intron|UPK3B_ENST00000334348.3_Intron|UPK3B_ENST00000448265.3_Silent_p.T41T|UPK3B_ENST00000257632.5_Silent_p.T41T|UPK3B_ENST00000443097.2_Intron			Q9BT76	UPK3B_HUMAN	uroplakin 3B	41					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				CCAGCCAGACCCAAGGGGCTG	0.706													7	22					1.58986e-06	1.81036e-06	1	0	A	76140092	C	A	76140092	2	1	108	1	0	0	0	0	0	0	0	1	17107	610	22	4		4	UPK3B	7	76140092	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	152008	76140092	82998571	77	20723											
PCLO	27445	broad.mit.edu	37	chr7	82390032	82390032	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgatcatgtctgcataCtcttgtttttttcttgatca	6	20	5	10	1	6	1	2	1	4	0	7	2	6	1	0	0	2	2	0	0	1	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:82390032C>A	ENST00000333891.8	-	24	15548	c.15211G>T	c.(15211-15213)Gta>Tta	p.V5071L		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4994					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTCTGCATACTCTTGTTTTT	0.333													9	36					1.12685e-05	1.26013e-05	1	0	A	82390032	C	A	82390032	3	1	108	1	0	0	0	0	1	0	0	0	11654	565	20	4	225	4	PCLO	7	82390032	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	6249940	82390032	76748631	78	20724											
PCLO	27445	broad.mit.edu	37	chr7	82586052	82586052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctaacttagccaaatctgagGggctggaagggctgctttct	9	11	12	9	0	2	1	0	1	2	0	2	2	2	2	1	4	3	3	1	4	4	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:82586052G>T	ENST00000423517.2	-	5	4554	c.4217C>A	c.(4216-4218)cCc>cAc	p.P1406H	PCLO_ENST00000333891.8_Missense_Mutation_p.P1406H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1337					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAAATCTGAGGGGCTGGAAGG	0.398													16	59					1.02788e-11	1.30366e-11	1	0	T	82586052	G	T	82586052	3	4	108	1	0	0	0	0	1	0	0	0	11654	1232	43	4	11312	4	PCLO	7	82586052	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	196020	82586052	76552611	79	20725											
SEMA3E	9723	broad.mit.edu	37	chr7	82996904	82996904	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatagtctcaccccatcAggagtccagcgtgtgcctgg	8	9	12	12	1	2	1	2	0	1	1	4	2	3	2	4	2	2	1	4	2	2	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:82996904A>G	ENST00000307792.3	-	17	2793	c.2326T>C	c.(2326-2328)Tga>Cga	p.*776R	SEMA3E_ENST00000427262.1_Nonstop_Mutation_p.*716R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	0					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCACCCCATCAGGAGTCCAGC	0.408													5	244					0	0	0	0	G	82996904	A	G	82996904	4	3	108	1	0	0	0	0	0	0	0	0	14115	201	7	5	5	5	SEMA3E	7	82996904	Nonstop_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	410852	82996904	76141759	80	20726											
PON3	5446	broad.mit.edu	37	chr7	94996731	94996731	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagaacgttgttgttccTcaaatttaaatatctccaca	13	13	5	10	1	2	1	1	0	1	1	4	2	3	1	3	0	1	3	3	0	5	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:94996731T>C	ENST00000265627.5	-	5	447	c.437A>G	c.(436-438)gAg>gGg	p.E146G	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.E146G	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TTGTTGTTCCTCAAATTTAAA	0.348													3	132					0	0	0	0	C	94996731	T	C	94996731	3	2	108	1	0	0	0	0	1	0	0	0	12322	1551	54	5	647	5	PON3	7	94996731	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	11999827	94996731	64141932	81	20727											
RNF133	168433	broad.mit.edu	37	chr7	122338423	122338423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtgattcatccagatgaTgtgctttctccccacctcaa	10	13	6	12	0	3	3	2	2	1	1	5	3	4	3	4	0	1	1	4	0	2	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:122338423T>C	ENST00000340112.2	-	1	787	c.550A>G	c.(550-552)Atc>Gtc	p.I184V	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	184						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						ATCCAGATGATGTGCTTTCTC	0.378													28	73					0	0	0	0	C	122338423	T	C	122338423	3	2	108	1	0	0	0	0	1	0	0	0	13524	1464	51	5	584	5	RNF133	7	122338423	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	27341692	122338423	36800240	82	20728											
NUP205	23165	broad.mit.edu	37	chr7	135304382	135304382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgggttttgcttctattgGagattcttcactttacatca	8	18	8	7	0	4	1	2	0	2	1	4	2	4	1	0	2	2	2	0	2	2	9			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:135304382G>T	ENST00000285968.6	+	29	4201	c.4175G>T	c.(4174-4176)gGa>gTa	p.G1392V		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1392					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCTTCTATTGGAGATTCTTCA	0.363													7	27					8.12818e-05	8.89822e-05	1	0	T	135304382	G	T	135304382	3	4	108	1	0	0	0	0	1	0	0	0	10830	1174	41	2	4289	2	NUP205	7	135304382	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	12965959	135304382	23834281	83	20729											
DGKI	9162	broad.mit.edu	37	chr7	137148266	137148266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggctgagatctttcaGatctgagtcctcataatagg	10	12	12	7	0	4	3	2	2	2	2	5	5	5	4	1	3	0	1	1	3	2	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:137148266G>T	ENST00000424189.2	-	28	2996	c.2767C>A	c.(2767-2769)Ctg>Atg	p.L923M	DGKI_ENST00000453654.1_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.L892M|DGKI_ENST00000288490.5_Missense_Mutation_p.L910M			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	910					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGATCTTTCAGATCTGAGTCC	0.522													21	42					1.01871e-10	1.27646e-10	1	0	T	137148266	G	T	137148266	3	4	108	1	0	0	0	0	1	0	0	0	4508	933	33	2	497	2	DGKI	7	137148266	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	1843884	137148266	21990397	84	20730											
ZNF425	155054	broad.mit.edu	37	chr7	148801945	148801945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgcccctcttcaggcGgaagcaccggtcacactgcg	7	8	10	16	3	4	0	3	0	1	0	4	1	4	1	3	3	3	1	3	3	1	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:148801945G>A	ENST00000378061.2	-	4	1150	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	340					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTCTTCAGGCGGAAGCACCGG	0.662													10	45					0	0	0	0	A	148801945	G	A	148801945	3	1	108	1	0	0	0	0	1	0	0	0	17994	1116	39	1	1244	1	ZNF425	7	148801945	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	11653679	148801945	10336718	85	20731											
SMARCD3	6604	broad.mit.edu	37	chr7	150939293	150939293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaactcttgaagaaagaaGagaacttccgcttctgtttg	13	11	8	9	1	2	4	0	1	2	3	3	5	3	4	2	0	2	2	2	0	5	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr7:150939293G>A	ENST00000392811.2	-	7	1040	c.566C>T	c.(565-567)tCt>tTt	p.S189F	SMARCD3_ENST00000356800.2_Missense_Mutation_p.S189F|SMARCD3_ENST00000262188.8_Missense_Mutation_p.S202F|SMARCD3_ENST00000477169.1_5'UTR	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	202					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGAAAGAAGAGAACTTCCG	0.547													24	130					0	0	0	0	A	150939293	G	A	150939293	3	1	108	1	0	0	0	0	1	0	0	0	14867	942	33	2	878	2	SMARCD3	7	150939293	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	2137348	150939293	8199370	86	20732											
XKR5	389610	broad.mit.edu	37	chr8	6673270	6673270	+	RNA	DEL	A	A	-																															ctaccctttgagcccattgtAaaaaaaaaaaatacgttggg																										TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	6	---	---	---	---					-	6673270	A	-	6673270	6	5	108	0	1	1	0	1	0	0	0	0	17530	377	13	0		0	XKR5	8	6673270	RNA	DEL	A	TCGA-CN-6995-01A-31D-2012-08		6673270	139690752	87	20733											
SCARA5	286133	broad.mit.edu	37	chr8	27779353	27779353	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacgtcggccagctcctcGcccaggatgcccaccctgcg	5	5	10	21	4	0	0	0	0	0	0	3	1	1	1	6	2	3	1	6	2	0	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:27779353G>A	ENST00000354914.3	-	4	1136	c.651C>T	c.(649-651)ggC>ggT	p.G217G	SCARA5_ENST00000524352.1_Silent_p.G217G|SCARA5_ENST00000301906.4_Silent_p.G174G|SCARA5_ENST00000518030.1_Silent_p.G174G|SCARA5_ENST00000380385.2_Intron	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	217					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CCAGCTCCTCGCCCAGGATGC	0.721													4	3					0	0	0	0	A	27779353	G	A	27779353	2	1	108	1	0	0	0	0	0	0	0	1	13966	1074	38	1		1	SCARA5	8	27779353	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	21106083	27779353	118584669	88	20734											
GSR	2936	broad.mit.edu	37	chr8	30546804	30546804	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtaaccatgctgacttcCaagcccgacaaagtcttttt	11	11	7	12	1	1	1	0	1	1	0	2	2	2	1	3	0	3	3	3	0	3	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:30546804C>T	ENST00000221130.5	-	9	1005	c.915G>A	c.(913-915)ttG>ttA	p.L305L	GSR_ENST00000546342.1_Silent_p.L276L|GSR_ENST00000541648.1_Intron|GSR_ENST00000537535.1_Intron|GSR_ENST00000414019.1_Silent_p.L262L	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	305					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TGCTGACTTCCAAGCCCGACA	0.502													27	27					0	0	0	0	T	30546804	C	T	30546804	2	4	108	1	0	0	0	0	0	0	0	1	6878	593	21	4		4	GSR	8	30546804	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	2767451	30546804	115817218	89	20735											
PRDM14	63978	broad.mit.edu	37	chr8	70970925	70970925	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgtggatccgaagccGgtcccgcttctcaaaggatc	11	8	11	11	3	1	1	1	0	1	1	5	4	3	3	3	3	1	1	3	3	4	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:70970925G>C	ENST00000276594.2	-	6	1537	c.1336C>G	c.(1336-1338)Cgg>Ggg	p.R446G		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			ATCCGAAGCCGGTCCCGCTTC	0.502													28	64					0	0	0	0	C	70970925	G	C	70970925	3	2	108	1	0	0	0	0	1	0	0	0	12535	1115	39	3	391	3	PRDM14	8	70970925	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	40424121	70970925	75393097	90	20736											
KCNB2	9312	broad.mit.edu	37	chr8	73849954	73849954	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggctgtcccccaggttTcccaagcagaaactgttccc	10	8	9	14	0	0	1	0	0	0	1	3	1	3	1	4	2	2	4	4	2	3	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:73849954T>A	ENST00000523207.1	+	3	2952	c.2364T>A	c.(2362-2364)ttT>ttA	p.F788L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	788					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCCCCAGGTTTCCCAAGCAGA	0.537													21	78					0	0	0	0	A	73849954	T	A	73849954	3	1	108	1	0	0	0	0	1	0	0	0	8066	1780	62	5	2370	5	KCNB2	8	73849954	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	2879029	73849954	72514068	91	20737											
EBAG9	9166	broad.mit.edu	37	chr8	110575714	110575714	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattaaccaatcagtaaagAtagagagagtgagtctgggt	16	9	11	5	0	2	4	1	1	1	3	2	5	2	4	1	1	1	1	1	1	5	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:110575714A>G	ENST00000531677.1	+	6	610	c.610A>G	c.(610-612)Ata>Gta	p.I204V	EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron			O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	174					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			ATCAGTAAAGATAGAGAGAGT	0.408													56	263					0	0	0	0	G	110575714	A	G	110575714	3	3	108	1	0	0	0	0	1	0	0	0	4915	348	12	5		5	EBAG9	8	110575714	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	36725760	110575714	35788308	92	20738											
FAM135B	51059	broad.mit.edu	37	chr8	139164289	139164289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaaagttgagagcaagatCctggggaaccttggctcttg	11	9	12	9	0	1	2	0	1	1	2	2	4	2	3	2	3	2	3	2	3	3	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr8:139164289C>A	ENST00000395297.1	-	13	2599	c.2429G>T	c.(2428-2430)gGa>gTa	p.G810V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	810										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGAGCAAGATCCTGGGGAACC	0.537										HNSCC(54;0.14)			15	99					0.000219431	0.000238546	1	0	A	139164289	C	A	139164289	3	1	108	1	0	0	0	0	1	0	0	0	5490	855	30	2	1823	2	FAM135B	8	139164289	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	28588575	139164289	7199733	93	20739											
KIAA2026	158358	broad.mit.edu	37	chr9	6007399	6007399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgtccgggctgctgcGggaaggcgcgaccgccccgg	3	5	17	16	6	0	0	0	0	0	0	1	2	1	1	5	4	3	2	5	4	1	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:6007399G>A	ENST00000399933.3	-	1	388	c.389C>T	c.(388-390)cCg>cTg	p.P130L	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P130L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	130										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GGGCTGCTGCGGGAAGGCGCG	0.706													24	19					0	0	0	0	A	6007399	G	A	6007399	3	1	108	1	0	0	0	0	1	0	0	0	8321	1116	39	1	5954	1	KIAA2026	9	6007399	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08		6007399	135206032	94	20740											
SIGMAR1	10280	broad.mit.edu	37	chr9	34635731	34635731	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaagtcctgggtgctgaaGacagtgtcggccagcgcgaa	10	6	16	9	3	0	2	0	1	0	1	2	4	1	3	2	3	2	1	2	3	3	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:34635731G>C	ENST00000378892.1	-	3	730	c.303C>G	c.(301-303)gtC>gtG	p.V101V	SIGMAR1_ENST00000277010.4_Silent_p.V190V|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000477726.1_Silent_p.V159V			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	190					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	GGGTGCTGAAGACAGTGTCGG	0.617													43	35					0	0	0	0	C	34635731	G	C	34635731	2	2	108	1	0	0	0	0	0	0	0	1	14404	929	33	2		2	SIGMAR1	9	34635731	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	28628332	34635731	106577700	95	20741											
ZNF658	26149	broad.mit.edu	37	chr9	40772546	40772546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccacattcactgcattcaTagggtttctcccctgagcga	8	12	7	14	1	3	1	2	1	1	0	5	2	4	1	3	1	2	2	3	1	1	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:40772546T>C	ENST00000602553.1	-	5	3023	c.2729A>G	c.(2728-2730)tAt>tGt	p.Y910C	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.Y910C			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	910					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACTGCATTCATAGGGTTTCTC	0.443													139	120					0	0	0	0	C	40772546	T	C	40772546	3	2	108	1	0	0	0	0	1	0	0	0	18164	1406	49	5	454	5	ZNF658	9	40772546	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	6136815	40772546	100440885	96	20742											
RASEF	158158	broad.mit.edu	37	chr9	85616027	85616027	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcacagtcctcatccacAtaggaagagcgggatgacct	12	7	11	11	1	2	2	2	1	0	1	4	5	4	4	3	2	1	0	3	2	2	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:85616027A>T	ENST00000376447.3	-	10	1481	c.1221T>A	c.(1219-1221)taT>taA	p.Y407*		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	407					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CCTCATCCACATAGGAAGAGC	0.502													9	34					0	0	0	0	T	85616027	A	T	85616027	4	4	108	1	0	0	0	0	0	1	0	0	13150	224	8	5	1033	5	RASEF	9	85616027	Nonsense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	44843481	85616027	55597404	97	20743											
IARS	3376	broad.mit.edu	37	chr9	95027219	95027219	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggaggcataccatcctctGgtttggtcgatgccctcggc	7	10	12	12	2	1	0	0	0	1	0	4	2	2	1	3	5	2	2	3	5	2	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:95027219G>C	ENST00000375643.3	-	16	1958	c.1692C>G	c.(1690-1692)acC>acG	p.T564T	IARS_ENST00000443024.2_Silent_p.T564T|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Silent_p.T454T	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	564					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACCATCCTCTGGTTTGGTCGA	0.423													9	35					0	0	0	0	C	95027219	G	C	95027219	2	2	108	1	0	0	0	0	0	0	0	1	7526	1335	47	4		4	IARS	9	95027219	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	9411192	95027219	46186212	98	20744											
ECM2	1842	broad.mit.edu	37	chr9	95274325	95274325	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacctatgcctgaagaagTgatattatttttactcagat	12	15	8	6	0	1	4	1	2	0	2	1	5	1	5	2	1	2	0	2	1	6	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:95274325T>A	ENST00000344604.5	-	5	1287	c.1138A>T	c.(1138-1140)Act>Tct	p.T380S	ECM2_ENST00000444490.2_Missense_Mutation_p.T358S|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	380					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						CCTGAAGAAGTGATATTATTT	0.403													11	50					0	0	0	0	A	95274325	T	A	95274325	3	1	108	1	0	0	0	0	1	0	0	0	4934	1696	59	5	985	5	ECM2	9	95274325	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	247106	95274325	45939106	99	20745											
CERCAM	51148	broad.mit.edu	37	chr9	131193524	131193524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacccttactcgggccGcactctgaccaagggcgagg	8	5	13	15	3	1	1	0	1	1	0	2	3	1	2	4	4	1	1	4	4	2	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr9:131193524G>A	ENST00000372842.1	+	10	4055	c.911G>A	c.(910-912)cGc>cAc	p.R304H	CERCAM_ENST00000372838.4_Missense_Mutation_p.R382H			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	382					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TACTCGGGCCGCACTCTGACC	0.627													4	123					0	0	0	0	A	131193524	G	A	131193524	3	1	108	1	0	0	0	0	1	0	0	0	3295	1087	38	1	1179	1	CERCAM	9	131193524	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	35919199	131193524	10019907	100	20746											
ANKRD16	54522	broad.mit.edu	37	chr10	5929887	5929887	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagtgagcaggtactggAggatcagagggtcgccttct	11	8	14	8	1	2	2	1	1	1	1	3	4	2	4	1	4	3	2	1	4	2	2	rs112121948		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:5929887A>G	ENST00000380094.5	-	2	1001	c.458T>C	c.(457-459)cTc>cCc	p.L153P	ANKRD16_ENST00000191063.8_Missense_Mutation_p.L153P|ANKRD16_ENST00000380092.4_Missense_Mutation_p.L153P	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	153										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						CAGGTACTGGAGGATCAGAGG	0.532													13	54					0	0	0	0	G	5929887	A	G	5929887	3	3	108	1	0	0	0	0	1	0	0	0	645	304	11	5	651	5	ANKRD16	10	5929887	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08		5929887	129604860	101	20747											
ARMC4	55130	broad.mit.edu	37	chr10	28151364	28151364	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagatgtgttacttactGtatttgccagtttggacaat	13	15	8	5	0	0	1	0	0	0	1	0	2	0	2	1	1	3	3	1	1	6	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:28151364G>C	ENST00000305242.5	-	18	2890	c.2799_splice	c.e18+1	p.T933_splice	ARMC4_ENST00000545014.1_Splice_Site_p.T458_splice|ARMC4_ENST00000537576.1_Splice_Site_p.T625_splice	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	933							binding	p.T933K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTTACTTACTGTATTTGCCAG	0.358													16	36					0	0	0	0	C	28151364	G	C	28151364	5	2	108	1	0	0	0	0	0	0	1	0	957	1391	48	4	348	4	ARMC4	10	28151364	Splice_Site	SNP	G	TCGA-CN-6995-01A-31D-2012-08	22221477	28151364	107383383	102	20748											
KIAA1462	57608	broad.mit.edu	37	chr10	30317109	30317109	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatttgtttgtctgtcttcTtctggttcccctagatcttg	3	21	7	10	0	6	1	1	0	5	1	7	1	7	1	2	1	0	2	2	1	1	7			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:30317109T>A	ENST00000375377.1	-	3	2069	c.1968A>T	c.(1966-1968)gaA>gaT	p.E656D		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	656										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTCTGTCTTCTTCTGGTTCCC	0.522													11	47					0	0	0	0	A	30317109	T	A	30317109	3	1	108	1	0	0	0	0	1	0	0	0	8285	1606	56	5	2119	5	KIAA1462	10	30317109	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	2165745	30317109	105217638	103	20749											
EGR2	1959	broad.mit.edu	37	chr10	64575770	64575770	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagttactgggattttgtctAcggccttggcggtcatcatt	6	15	12	8	2	3	0	2	0	1	0	3	2	3	1	1	4	2	1	1	4	2	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:64575770A>G	ENST00000242480.3	-	1	345	c.20T>C	c.(19-21)gTa>gCa	p.V7A	EGR2_ENST00000411732.1_Intron|EGR2_ENST00000439032.1_Missense_Mutation_p.V7A|EGR2_ENST00000493899.2_Intron	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	7					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GATTTTGTCTACGGCCTTGGC	0.562													72	90					0	0	0	0	G	64575770	A	G	64575770	3	3	108	1	0	0	0	0	1	0	0	0	5008	391	14	5	1418	5	EGR2	10	64575770	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	34258661	64575770	70958977	104	20750											
JMJD1C	221037	broad.mit.edu	37	chr10	64974163	64974163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctttttccatgttcaaGtgatcatttcctgaagaagc	9	17	6	9	0	3	3	2	2	1	1	6	3	5	3	2	0	1	1	2	0	3	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:64974163G>C	ENST00000399262.2	-	8	1982	c.1764C>G	c.(1762-1764)caC>caG	p.H588Q	JMJD1C_ENST00000402544.1_Missense_Mutation_p.H369Q|JMJD1C_ENST00000542921.1_Missense_Mutation_p.H406Q|JMJD1C_ENST00000399251.1_Missense_Mutation_p.H369Q	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	588					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCATGTTCAAGTGATCATTTC	0.393													5	35					0	0	0	0	C	64974163	G	C	64974163	3	2	108	1	0	0	0	0	1	0	0	0	8003	1020	36	4	5934	4	JMJD1C	10	64974163	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	398393	64974163	70560584	105	20751											
PLCE1	51196	broad.mit.edu	37	chr10	95791986	95791986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaagatgggagccaacgtCtgtcagaagcccagtggtat	11	7	14	9	1	2	2	1	0	1	2	2	3	2	3	2	3	3	2	2	3	4	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:95791986C>T	ENST00000260766.3	+	2	1817	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	PLCE1_ENST00000371380.2_Silent_p.L395L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	395					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAGCCAACGTCTGTCAGAAGC	0.408													5	37					0	0	0	0	T	95791986	C	T	95791986	2	4	108	1	0	0	0	0	0	0	0	1	12106	912	32	2		2	PLCE1	10	95791986	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	30817823	95791986	39742761	106	20752											
CC2D2B	387707	broad.mit.edu	37	chr10	97769618	97769618	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgtagtggtcactcatatAtaagaaagaattggcttgga	13	12	11	5	0	2	2	2	0	0	2	2	3	2	3	0	3	0	3	0	3	6	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:97769618A>G	ENST00000371198.2	+	12	1371	c.331A>G	c.(331-333)Ata>Gta	p.I111V	ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|CC2D2B_ENST00000344386.3_Missense_Mutation_p.I20V|CC2D2B_ENST00000410012.2_Missense_Mutation_p.I20V			Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	20										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TCACTCATATATAAGAAAGAA	0.318													4	30					0	0	0	0	G	97769618	A	G	97769618	3	3	108	1	0	0	0	0	1	0	0	0	2754	449	16	5	64	5	CC2D2B	10	97769618	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	1977632	97769618	37765129	107	20753											
ABCC2	1244	broad.mit.edu	37	chr10	101578649	101578649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgaccccctgtctgcagtgGatgctcatgtaggaaaacat	11	10	10	10	0	2	1	1	1	1	0	2	3	2	3	2	2	3	3	2	2	3	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:101578649G>T	ENST00000370449.4	+	18	2487	c.2374G>T	c.(2374-2376)Gat>Tat	p.D792Y		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	792	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTCTGCAGTGGATGCTCATGT	0.433													30	22					4.43304e-23	6.11994e-23	1	0	T	101578649	G	T	101578649	3	4	108	1	0	0	0	0	1	0	0	0	53	1174	41	2	2444	2	ABCC2	10	101578649	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	3809031	101578649	33956098	108	20754											
PAX2	5076	broad.mit.edu	37	chr10	102584502	102584502	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccctggcaggaatggtGcctggtaggtgacaatgctg	8	9	14	10	0	0	1	0	1	0	0	1	2	1	2	3	5	2	3	3	5	3	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:102584502G>A	ENST00000370296.2	+	9	1636	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V	PAX2_ENST00000556085.1_Silent_p.V338V|PAX2_ENST00000428433.1_Silent_p.V362V|PAX2_ENST00000361791.3_Silent_p.V339V|PAX2_ENST00000355243.3_Silent_p.V339V			Q02962	PAX2_HUMAN	paired box 2	362					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAGGAATGGTGCCTGGTAGGT	0.617													21	99					0	0	0	0	A	102584502	G	A	102584502	2	1	108	1	0	0	0	0	0	0	0	1	11550	1306	46	4		4	PAX2	10	102584502	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	1005853	102584502	32950245	109	20755											
POLL	27343	broad.mit.edu	37	chr10	103342623	103342623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcagggaggcctggctgCggatgtcttccagacttcgg	5	11	15	10	2	2	1	1	0	1	1	4	3	3	3	2	5	1	1	2	5	0	3	rs146112511		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:103342623C>A	ENST00000370162.3	-	7	1585	c.1091G>T	c.(1090-1092)cGc>cTc	p.R364L	POLL_ENST00000370158.3_Missense_Mutation_p.R89L|POLL_ENST00000370168.3_Missense_Mutation_p.R37L|POLL_ENST00000370172.1_Missense_Mutation_p.R276L|POLL_ENST00000299206.4_Missense_Mutation_p.R364L|POLL_ENST00000456836.2_Missense_Mutation_p.R101L|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.R364L|POLL_ENST00000339310.3_Missense_Mutation_p.R87L|DPCD_ENST00000416979.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	364					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGCCTGGCTGCGGATGTCTTC	0.552								DNA polymerases (catalytic subunits)					14	89					3.27435e-08	3.91417e-08	1	0	A	103342623	C	A	103342623	3	1	108	1	0	0	0	0	1	0	0	0	12277	768	27	3	648	3	POLL	10	103342623	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	758121	103342623	32192124	110	20756											
GBF1	8729	broad.mit.edu	37	chr10	104018750	104018750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agattaacattgtggttgggGccatcaaacgaaatgcccga	13	9	11	8	2	1	1	1	0	0	1	1	3	1	1	2	3	3	1	2	3	3	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:104018750G>A	ENST00000369983.3	+	2	315	c.55G>A	c.(55-57)Gcc>Acc	p.A19T		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	19					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)		TGTGGTTGGGGCCATCAAACG	0.408													19	138					0	0	0	0	A	104018750	G	A	104018750	3	1	108	1	0	0	0	0	1	0	0	0	6320	1203	42	4	57	4	GBF1	10	104018750	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	676127	104018750	31515997	111	20757											
GFRA1	2674	broad.mit.edu	37	chr10	117849257	117849257	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacgcagttctcacctgtaAatttgcacacggtggcaaaa	12	9	10	10	2	1	0	1	0	1	0	2	1	1	1	1	3	1	5	1	3	4	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:117849257A>T	ENST00000439649.3	-	8	1544	c.1177T>A	c.(1177-1179)Tta>Ata	p.L393I	GFRA1_ENST00000355422.6_Missense_Mutation_p.L398I|GFRA1_ENST00000369236.1_Missense_Mutation_p.L393I|GFRA1_ENST00000544592.1_Missense_Mutation_p.L277I	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	398					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTCACCTGTAAATTTGCACAC	0.547													19	126					0	0	0	0	T	117849257	A	T	117849257	3	4	108	1	0	0	0	0	1	0	0	0	6398	11	1	5	217	5	GFRA1	10	117849257	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	13830507	117849257	17685490	112	20758											
KCNK18	338567	broad.mit.edu	37	chr10	118957108	118957108	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgacctacgccctggtgGgtgctgtggtcttctctgcc	2	13	14	12	1	2	1	0	1	2	0	3	1	2	1	3	4	3	1	3	4	1	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:118957108G>T	ENST00000334549.1	+	1	109	c.109G>T	c.(109-111)Ggt>Tgt	p.G37C		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	37						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CGCCCTGGTGGGTGCTGTGGT	0.597													29	27					9.39395e-14	1.22121e-13	1	0	T	118957108	G	T	118957108	3	4	108	1	0	0	0	0	1	0	0	0	8118	1232	43	4	111	4	KCNK18	10	118957108	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	1107851	118957108	16577639	113	20759											
PWWP2B	170394	broad.mit.edu	37	chr10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcagccccccgagaccAcccgccccgagccacccccg	6	2	10	23	4	1	1	1	0	0	1	1	3	1	1	10	1	2	1	10	1	0	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756													6	17					0	0	0	0	C	134218293	A	C	134218293	3	2	108	1	0	0	0	0	1	0	0	0	12928	159	6	5	295	5	PWWP2B	10	134218293	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	15261185	134218293	1316454	114	20760											
INPP5A	3632	broad.mit.edu	37	chr10	134464009	134464009	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatcccaggagcacttcacGgtgagtccctcccgctgcct	8	8	9	16	2	1	1	1	1	0	0	4	2	4	2	4	2	2	2	4	2	1	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:134464009G>T	ENST00000368594.3	+	4	583	c.306_splice	c.e4+1	p.T102_splice	INPP5A_ENST00000368593.3_Splice_Site_p.T102_splice	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	102					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGCACTTCACGGTGAGTCCCT	0.542													62	70					3.74213e-36	5.33125e-36	1	0	T	134464009	G	T	134464009	5	4	108	1	0	0	0	0	0	0	1	0	7807	1130	39	3	320	3	INPP5A	10	134464009	Splice_Site	SNP	G	TCGA-CN-6995-01A-31D-2012-08	245716	134464009	1070738	115	20761											
CYP2E1	1571	broad.mit.edu	37	chr10	135346244	135346244	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacttgcctggaagccacAgaaaagtcataaaaaatgtg	17	8	8	8	0	1	1	1	0	0	1	1	2	1	2	2	1	3	0	2	1	7	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr10:135346244A>T	ENST00000463117.2	+	7	969	c.697A>T	c.(697-699)Aga>Tga	p.R233*	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Nonsense_Mutation_p.R233*			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	233					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TGGAAGCCACAGAAAAGTCAT	0.408									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				26	174					0	0	0	0	T	135346244	A	T	135346244	4	4	108	1	0	0	0	0	0	1	0	0	4202	180	7	5	715	5	CYP2E1	10	135346244	Nonsense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	882235	135346244	188503	116	20762											
MOB2	81532	broad.mit.edu	37	chr11	1491670	1491670	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagcacgtggaacaggtgtCtgcagatcttcctcaccagg	9	8	11	13	1	3	1	1	0	2	1	4	2	4	2	3	3	3	2	3	3	1	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:1491670C>G	ENST00000329957.6	-	5	728	c.539G>C	c.(538-540)aGa>aCa	p.R180T	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	149						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						GAACAGGTGTCTGCAGATCTT	0.587													27	54					0	0	0	0	G	1491670	C	G	1491670	3	3	108	1	0	0	0	0	1	0	0	0	9751	913	32	2	271	2	MOB2	11	1491670	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08		1491670	133514846	117	20763											
OR52E2	119678	broad.mit.edu	37	chr11	5080588	5080588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaaagatgatccctctgagGttgatccagaagattccaag	13	10	9	9	0	2	6	1	3	1	3	5	6	5	6	3	1	0	1	3	1	3	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:5080588G>T	ENST00000321522.2	-	1	269	c.270C>A	c.(268-270)aaC>aaA	p.N90K		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N90K(1)|p.N90_L91>KI(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCCCTCTGAGGTTGATCCAGA	0.483													15	25					2.31682e-05	2.56329e-05	1	0	T	5080588	G	T	5080588	3	4	108	1	0	0	0	0	1	0	0	0	11186	1252	44	4	710	4	OR52E2	11	5080588	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	3588918	5080588	129925928	118	20764											
INSC	387755	broad.mit.edu	37	chr11	15197593	15197601	+	In_Frame_Del	DEL	CAGTGCTGT	CAGTGCTGT	-																															cgctccatggtcagcgagtaCagtgctgtcagcaggaactc																								rs61745109		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:15197593_15197601delCAGTGCTGT	ENST00000379554.3	+	3	550_558	c.504_512delCAGTGCTGT	c.(502-513)tac>ta	p.YSAV168del	INSC_ENST00000528567.1_In_Frame_Del_p.YSAV121del|INSC_ENST00000379556.3_In_Frame_Del_p.YSAV121del|INSC_ENST00000525218.1_In_Frame_Del_p.YSAV121del|INSC_ENST00000424273.1_In_Frame_Del_p.YSAV121del|INSC_ENST00000530161.1_In_Frame_Del_p.YSAV121del	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	168					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCAGCGAGTACAGTGCTGTCAGCAGGAAC	0.612													7	12	---	---	---	---					-	15197601	CAGTGCTGT	-	15197593	7	5	108	1	0	1	0	1	0	0	0	0	7817	489	17	0	514	0	INSC	11	15197593	In_Frame_Del	DEL	CAGTGCTGT	TCGA-CN-6995-01A-31D-2012-08	10117005	15197593	119808923	119	20765											
SLC5A12	159963	broad.mit.edu	37	chr11	26695058	26695058	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattaacagtggttgaataTcctcacctctttggcgacct	10	14	7	10	1	2	1	1	1	1	0	3	2	3	1	3	2	1	1	3	2	4	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:26695058T>G	ENST00000396005.3	-	14	1907	c.1598A>C	c.(1597-1599)gAt>gCt	p.D533A		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	533					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGGTTGAATATCCTCACCTCT	0.373													13	103					0	0	0	0	G	26695058	T	G	26695058	3	3	108	1	0	0	0	0	1	0	0	0	14752	1435	50	5	266	5	SLC5A12	11	26695058	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	11497465	26695058	108311458	120	20766											
EXT2	2132	broad.mit.edu	37	chr11	44228424	44228424	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtaaccgtttcttcccttAtgatgaaatcgagacagaag	14	11	8	8	2	1	4	0	2	1	2	3	5	2	4	2	0	1	2	2	0	5	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:44228424A>G	ENST00000395673.3	+	10	1732	c.1676A>G	c.(1675-1677)tAt>tGt	p.Y559C	EXT2_ENST00000343631.3_Missense_Mutation_p.Y526C|EXT2_ENST00000358681.4_Missense_Mutation_p.Y536C|EXT2_ENST00000533608.1_Missense_Mutation_p.Y526C	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	526					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTCTTCCCTTATGATGAAATC	0.413			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				28	52					0	0	0	0	G	44228424	A	G	44228424	3	3	108	1	0	0	0	0	1	0	0	0	5362	449	16	5	1811	5	EXT2	11	44228424	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	17533366	44228424	90778092	121	20767											
CHST1	8534	broad.mit.edu	37	chr11	45672189	45672189	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgagcgtgttctggacGtggtagaggggctcaaacag	9	8	18	6	2	2	2	1	1	1	1	2	4	2	4	0	5	2	3	0	5	2	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:45672189G>A	ENST00000308064.2	-	4	955	c.285C>T	c.(283-285)caC>caT	p.H95H		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	95					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TGTTCTGGACGTGGTAGAGGG	0.657													30	72					0	0	0	0	A	45672189	G	A	45672189	2	1	108	1	0	0	0	0	0	0	0	1	3426	1136	40	1		1	CHST1	11	45672189	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	1443765	45672189	89334327	122	20768											
CREB3L1	90993	broad.mit.edu	37	chr11	46332681	46332681	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccccctccagccctgtcAggcccatggcgcgctcctcc	3	7	9	22	2	1	0	1	0	0	0	4	0	4	0	8	2	2	1	8	2	0	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:46332681A>G	ENST00000529193.1	+	5	1145	c.694A>G	c.(694-696)Agg>Ggg	p.R232G	CREB3L1_ENST00000288400.3_Missense_Mutation_p.R232G			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	232					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CAGCCCTGTCAGGCCCATGGC	0.667			T	FUS	myxofibrosarcoma								3	70					0	0	0	0	G	46332681	A	G	46332681	3	3	108	1	0	0	0	0	1	0	0	0	3886	179	7	5	712	5	CREB3L1	11	46332681	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	660492	46332681	88673835	123	20769											
MADD	8567	broad.mit.edu	37	chr11	47306595	47306595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatcgaacgtggacagacGtcaggcagaaattggagagg	15	5	14	7	3	1	3	1	0	0	3	2	6	1	4	0	4	1	1	0	4	3	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:47306595G>A	ENST00000342922.4	+	13	2618	c.2261G>A	c.(2260-2262)cGt>cAt	p.R754H	MADD_ENST00000311027.5_Missense_Mutation_p.R754H|MADD_ENST00000349238.3_Missense_Mutation_p.R754H|MADD_ENST00000402799.1_Missense_Mutation_p.R754H|MADD_ENST00000395344.3_Missense_Mutation_p.R754H|MADD_ENST00000395336.3_Missense_Mutation_p.R754H|MADD_ENST00000402192.2_Missense_Mutation_p.R754H|MADD_ENST00000406482.1_Missense_Mutation_p.R754H|MADD_ENST00000407859.3_Missense_Mutation_p.R754H	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	754					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTGGACAGACGTCAGGCAGAA	0.557													6	90					0	0	0	0	A	47306595	G	A	47306595	3	1	108	1	0	0	0	0	1	0	0	0	9217	1145	40	1	2307	1	MADD	11	47306595	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	973914	47306595	87699921	124	20770											
CLP1	10978	broad.mit.edu	37	chr11	57428484	57428484	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccctaaatctgggggtgTggtggagcgctccaaggact	7	9	15	10	1	1	0	0	0	1	0	3	2	3	2	2	5	1	2	2	5	3	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:57428484T>C	ENST00000533682.1	+	3	1579	c.854T>C	c.(853-855)gTg>gCg	p.V285A	CLP1_ENST00000529430.1_Missense_Mutation_p.V296A|CLP1_ENST00000302731.4_Missense_Mutation_p.V221A|CLP1_ENST00000525602.1_Missense_Mutation_p.V285A			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	285					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						TCTGGGGGTGTGGTGGAGCGC	0.512													3	144					0	0	0	0	C	57428484	T	C	57428484	3	2	108	1	0	0	0	0	1	0	0	0	3580	1696	59	5	860	5	CLP1	11	57428484	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	10121889	57428484	77578032	125	20771											
MPEG1	219972	broad.mit.edu	37	chr11	58979531	58979531	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccctggagttggttcGgtttgagaggtagctcttgg	5	13	15	8	1	1	1	0	1	1	1	2	3	1	2	1	5	2	6	1	5	1	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:58979531G>A	ENST00000361050.3	-	1	893	c.808C>T	c.(808-810)Cga>Tga	p.R270*		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	270	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GAGTTGGTTCGGTTTGAGAGG	0.532													4	16					0	0	0	0	A	58979531	G	A	58979531	4	1	108	1	0	0	0	0	0	1	0	0	9793	1124	39	1	1346	1	MPEG1	11	58979531	Nonsense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	1551047	58979531	76026985	126	20772											
AHNAK	79026	broad.mit.edu	37	chr11	62293536	62293536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggttcacgtccacatCtggaccttctcctttgaagc	7	11	10	13	1	3	1	1	1	2	0	5	2	4	2	3	3	1	2	3	3	1	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:62293536C>A	ENST00000378024.4	-	5	8627	c.8353G>T	c.(8353-8355)Gat>Tat	p.D2785Y	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2785					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACGTCCACATCTGGACCTTCT	0.498													66	135					1.31726e-23	1.8266e-23	1	0	A	62293536	C	A	62293536	3	1	108	1	0	0	0	0	1	0	0	0	414	913	32	2	9439	2	AHNAK	11	62293536	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	3314005	62293536	72712980	127	20773											
MTL5	9633	broad.mit.edu	37	chr11	68506204	68506204	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtggtcctggaagagttGatcccgaggggaaagcagac	10	8	16	7	1	0	3	0	1	0	2	2	6	2	5	2	5	1	2	2	5	2	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:68506204G>C	ENST00000255087.5	-	6	1064	c.881C>G	c.(880-882)tCa>tGa	p.S294*	MTL5_ENST00000443940.2_3'UTR|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Nonsense_Mutation_p.S294*	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	294					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGGAAGAGTTGATCCCGAGGG	0.408													93	174					0	0	0	0	C	68506204	G	C	68506204	4	2	108	1	0	0	0	0	0	1	0	0	10006	1294	45	2	669	2	MTL5	11	68506204	Nonsense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	6212668	68506204	66500312	128	20774											
MTL5	9633	broad.mit.edu	37	chr11	68506237	68506237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcagacccgttgactaccGatggtaaggctccctcaagc	11	7	10	13	2	1	2	1	1	0	1	2	3	2	2	3	2	3	4	3	2	4	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:68506237G>A	ENST00000255087.5	-	6	1031	c.848C>T	c.(847-849)tCg>tTg	p.S283L	MTL5_ENST00000443940.2_3'UTR|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.S283L	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	283					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTTGACTACCGATGGTAAGGC	0.438													78	157					0	0	0	0	A	68506237	G	A	68506237	3	1	108	1	0	0	0	0	1	0	0	0	10006	1059	37	1	702	1	MTL5	11	68506237	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	33	68506237	66500279	129	20775											
MYEOV	26579	broad.mit.edu	37	chr11	69063820	69063820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcctctcctcctccaccaCctcctcctcctcctcctcat	3	13	0	25	0	3	0	1	0	2	0	12	0	10	0	11	0	0	0	11	0	0	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:69063820C>A	ENST00000535407.1	+	2	1372	c.729C>A	c.(727-729)caC>caA	p.H243Q	MYEOV_ENST00000441339.2_Missense_Mutation_p.H301Q|MYEOV_ENST00000308946.3_Missense_Mutation_p.H301Q			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	301										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		tcctccaccacctcctcctcc	0.587													19	8					0.00074312	0.000802261	1	0	A	69063820	C	A	69063820	3	1	108	1	0	0	0	0	1	0	0	0	10095	506	18	4	909	4	MYEOV	11	69063820	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	557583	69063820	65942696	130	20776											
FAT3	120114	broad.mit.edu	37	chr11	92088310	92088310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctataaccttactgtgcGggccaaagacaaagggcggc	11	8	12	10	2	1	1	0	0	1	1	1	1	1	1	2	3	3	1	2	3	5	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:92088310G>T	ENST00000298047.6	+	1	3049	c.3032G>T	c.(3031-3033)cGg>cTg	p.R1011L	FAT3_ENST00000541502.1_Missense_Mutation_p.R1011L|FAT3_ENST00000409404.2_Missense_Mutation_p.R1011L|FAT3_ENST00000525166.1_Missense_Mutation_p.R861L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1011	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTACTGTGCGGGCCAAAGAC	0.453										TCGA Ovarian(4;0.039)			12	24					5.50884e-06	6.2049e-06	1	0	T	92088310	G	T	92088310	3	4	108	1	0	0	0	0	1	0	0	0	5736	1116	39	3	3034	3	FAT3	11	92088310	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	23024490	92088310	42918206	131	20777											
FAT3	120114	broad.mit.edu	37	chr11	92523307	92523307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgagaaaattccggattGaccctagcactggcgtgctc	10	9	11	11	2	0	2	0	2	0	1	2	4	1	3	2	2	2	3	2	2	3	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:92523307G>T	ENST00000298047.6	+	7	4551	c.4534G>T	c.(4534-4536)Gac>Tac	p.D1512Y	FAT3_ENST00000409404.2_Missense_Mutation_p.D1512Y|FAT3_ENST00000525166.1_Missense_Mutation_p.D1362Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1512	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCCGGATTGACCCTAGCAC	0.488										TCGA Ovarian(4;0.039)			20	107					2.37509e-13	3.037e-13	1	0	T	92523307	G	T	92523307	3	4	108	1	0	0	0	0	1	0	0	0	5736	1290	45	2	4560	2	FAT3	11	92523307	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	434997	92523307	42483209	132	20778											
FAT3	120114	broad.mit.edu	37	chr11	92573756	92573756	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgggcaccagcatctTgcagctggtggtgacagaca	9	7	14	11	0	1	2	0	1	1	1	1	2	1	2	2	3	3	4	2	3	0	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:92573756T>C	ENST00000298047.6	+	17	10414	c.10397T>C	c.(10396-10398)tTg>tCg	p.L3466S	FAT3_ENST00000409404.2_Missense_Mutation_p.L3466S|FAT3_ENST00000525166.1_Missense_Mutation_p.L3316S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3466	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCAGCATCTTGCAGCTGGTG	0.398										TCGA Ovarian(4;0.039)			12	28					0	0	0	0	C	92573756	T	C	92573756	3	2	108	1	0	0	0	0	1	0	0	0	5736	1821	63	5	10463	5	FAT3	11	92573756	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	50449	92573756	42432760	133	20779											
OR6M1	390261	broad.mit.edu	37	chr11	123676665	123676665	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgctgttcatgatgacCgtgtagtgcagtgggtcgca	6	11	14	10	2	1	2	1	2	0	0	2	2	1	2	2	1	2	5	2	1	1	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr11:123676665C>A	ENST00000309154.2	-	1	430	c.393G>T	c.(391-393)acG>acT	p.T131T		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T131T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TCATGATGACCGTGTAGTGCA	0.517													19	20					1.64113e-05	1.82218e-05	1	0	A	123676665	C	A	123676665	2	1	108	1	0	0	0	0	0	0	0	1	11276	639	23	3		3	OR6M1	11	123676665	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	31102909	123676665	11329851	134	20780											
CD163L1	283316	broad.mit.edu	37	chr12	7556294	7556294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacgacgactgccaaagacGctgaacggacatcctagctg	12	5	11	13	4	0	2	0	1	0	1	1	5	1	3	2	1	3	3	2	1	3	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:7556294G>A	ENST00000313599.3	-	6	1302	c.1245C>T	c.(1243-1245)agC>agT	p.S415S	CD163L1_ENST00000416109.2_Silent_p.S425S|CD163L1_ENST00000396630.1_Silent_p.S415S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	415	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCCAAAGACGCTGAACGGAC	0.458													42	128					0	0	0	0	A	7556294	G	A	7556294	2	1	108	1	0	0	0	0	0	0	0	1	2997	1078	38	1		1	CD163L1	12	7556294	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08		7556294	126295601	135	20781											
PZP	5858	broad.mit.edu	37	chr12	9317736	9317736	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctcattttccttaccCggatgcatttgggaaggtag	8	13	9	11	1	2	0	2	0	0	0	3	2	3	2	3	3	2	2	3	3	3	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:9317736C>A	ENST00000261336.2	-	19	2514	c.2487_splice	c.e19+1	p.R829_splice	PZP_ENST00000381997.2_Splice_Site_p.R698_splice|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTCCTTACCCGGATGCATTT	0.463													17	71					5.35267e-07	6.23146e-07	1	0	A	9317736	C	A	9317736	5	1	108	1	0	0	0	0	0	0	1	0	12951	666	23	3	2034	3	PZP	12	9317736	Splice_Site	SNP	C	TCGA-CN-6995-01A-31D-2012-08	1761442	9317736	124534159	136	20782											
PTPRO	5800	broad.mit.edu	37	chr12	15637161	15637161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgaccaagccatccaGatcaatcactgtgttaacaa	13	10	8	10	0	2	2	2	1	0	1	3	2	3	2	3	1	2	1	3	1	4	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:15637161G>T	ENST00000281171.4	+	2	659	c.329G>T	c.(328-330)aGa>aTa	p.R110I	PTPRO_ENST00000348962.2_Missense_Mutation_p.R110I|PTPRO_ENST00000543886.1_Missense_Mutation_p.R110I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	110	Fibronectin type-III 1.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAGCCATCCAGATCAATCACT	0.413													10	38					7.48243e-07	8.6785e-07	1	0	T	15637161	G	T	15637161	3	4	108	1	0	0	0	0	1	0	0	0	12891	942	33	2	335	2	PTPRO	12	15637161	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	6319425	15637161	118214734	137	20783											
SLCO1B3	28234	broad.mit.edu	37	chr12	21030851	21030851	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtacggtcagtctgcatcTcatgctaactttttgttggg	7	15	10	9	1	3	0	2	0	2	0	4	0	3	0	0	2	4	4	0	2	2	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:21030851T>A	ENST00000381545.3	+	10	1335	c.1116T>A	c.(1114-1116)tcT>tcA	p.S372S	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.S372S|SLCO1B3_ENST00000553473.1_Silent_p.S372S|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Silent_p.S372S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	372					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGTCTGCATCTCATGCTAACT	0.328													17	53					0	0	0	0	A	21030851	T	A	21030851	2	1	108	1	0	0	0	0	0	0	0	1	14812	1538	54	5		5	SLCO1B3	12	21030851	Silent	SNP	T	TCGA-CN-6995-01A-31D-2012-08	5393690	21030851	112821044	138	20784											
IFLTD1	160492	broad.mit.edu	37	chr12	25672821	25672821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttgagcttgttccacCtgataatttgagatatcttt	11	16	7	7	0	1	4	0	3	1	2	2	5	2	4	2	0	2	2	2	0	3	7			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:25672821C>A	ENST00000539744.1	-	7	1112	c.633G>T	c.(631-633)caG>caT	p.Q211H	IFLTD1_ENST00000413632.2_Missense_Mutation_p.Q289H|IFLTD1_ENST00000445693.1_Missense_Mutation_p.Q245H|IFLTD1_ENST00000458174.2_Missense_Mutation_p.Q329H|IFLTD1_ENST00000282881.6_Missense_Mutation_p.Q308H	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	308						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CTTGTTCCACCTGATAATTTG	0.388													6	32					1.06961e-07	1.26409e-07	1	0	A	25672821	C	A	25672821	3	1	108	1	0	0	0	0	1	0	0	0	7583	680	24	4	254	4	IFLTD1	12	25672821	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	4641970	25672821	108179074	139	20785											
OVCH1	341350	broad.mit.edu	37	chr12	29597152	29597152	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagaagaacatcctcacaAgggaccaagtgctctctgtt	12	9	9	11	0	3	2	2	0	1	2	5	3	4	3	2	1	2	2	2	1	4	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:29597152A>G	ENST00000318184.5	-	24	2942	c.2943T>C	c.(2941-2943)ccT>ccC	p.P981P	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	981					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CATCCTCACAAGGGACCAAGT	0.403													3	178					0	0	0	0	G	29597152	A	G	29597152	2	3	108	1	0	0	0	0	0	0	0	1	11394	59	3	5		5	OVCH1	12	29597152	Silent	SNP	A	TCGA-CN-6995-01A-31D-2012-08	3924331	29597152	104254743	140	20786											
CNTN1	1272	broad.mit.edu	37	chr12	41312540	41312540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaagtctcactcaactGtagggcacgagccagccctt	12	7	10	12	1	2	0	2	0	1	0	3	2	2	1	2	2	3	2	2	2	4	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:41312540G>T	ENST00000551295.2	+	4	311	c.194G>T	c.(193-195)tGt>tTt	p.C65F	CNTN1_ENST00000348761.2_Missense_Mutation_p.C54F|CNTN1_ENST00000347616.1_Missense_Mutation_p.C65F|CNTN1_ENST00000547849.1_Missense_Mutation_p.C65F|CNTN1_ENST00000547702.1_Missense_Mutation_p.C65F|CNTN1_ENST00000360099.3_Missense_Mutation_p.C65F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	65	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCACTCAACTGTAGGGCACGA	0.438													8	60					3.09899e-07	3.62129e-07	1	0	T	41312540	G	T	41312540	3	4	108	1	0	0	0	0	1	0	0	0	3670	1377	48	4	204	4	CNTN1	12	41312540	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	11715388	41312540	92539355	141	20787											
IRAK4	51135	broad.mit.edu	37	chr12	44180289	44180289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatgctgattccacttcaGttgaagctatgtactctgtt	9	16	8	8	0	2	3	1	3	1	0	3	3	3	3	1	0	3	5	1	0	3	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:44180289G>A	ENST00000431837.1	+	10	1212	c.904G>A	c.(904-906)Gtt>Att	p.V302I	IRAK4_ENST00000551736.1_Missense_Mutation_p.V426I|IRAK4_ENST00000448290.2_Missense_Mutation_p.V426I|IRAK4_ENST00000440781.2_Missense_Mutation_p.V302I	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	426	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTCCACTTCAGTTGAAGCTAT	0.284													16	87					0	0	0	0	A	44180289	G	A	44180289	3	1	108	1	0	0	0	0	1	0	0	0	7878	1029	36	4	1314	4	IRAK4	12	44180289	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	2867749	44180289	89671606	142	20788											
SCN8A	6334	broad.mit.edu	37	chr12	52056869	52056869	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgacccatactatttgAcgcagaaagtgagttggagg	12	11	11	7	1	0	4	0	3	0	1	0	5	0	5	1	2	1	2	1	2	3	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:52056869A>T	ENST00000354534.5	+	2	446	c.268A>T	c.(268-270)Acg>Tcg	p.T90S	SCN8A_ENST00000545061.1_Missense_Mutation_p.T90S|SCN8A_ENST00000550891.1_Missense_Mutation_p.T90S	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	90					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATACTATTTGACGCAGAAAGT	0.527													51	92					0	0	0	0	T	52056869	A	T	52056869	3	4	108	1	0	0	0	0	1	0	0	0	14011	275	10	5	270	5	SCN8A	12	52056869	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	7876580	52056869	81795026	143	20789											
MBD6	114785	broad.mit.edu	37	chr12	57918502	57918502	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaccctgtcctctcgcaGtccaagtggcacagagctgt	7	10	10	14	1	2	2	0	1	2	1	5	2	4	2	3	1	1	3	3	1	1	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:57918502G>A	ENST00000355673.3	+	4	469		c.e4-1		MBD6_ENST00000431731.2_Splice_Site|MBD6_ENST00000549231.1_3'UTR	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6							chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCCTCTCGCAGTCCAAGTGGC	0.542													39	47					0	0	0	0	A	57918502	G	A	57918502	5	1	108	1	0	0	0	0	0	0	1	0	9417	1043	36	4	119	4	MBD6	12	57918502	Splice_Site	SNP	G	TCGA-CN-6995-01A-31D-2012-08	5861633	57918502	75933393	144	20790											
TRHDE	29953	broad.mit.edu	37	chr12	72956711	72956711	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagatgggttatcctgttAtcaccatcttgggaaacaca	11	12	8	10	0	2	1	1	0	1	1	4	2	4	2	3	2	1	2	3	2	3	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:72956711A>G	ENST00000261180.4	+	9	1894	c.1798A>G	c.(1798-1800)Atc>Gtc	p.I600V	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	600					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTATCCTGTTATCACCATCTT	0.328													9	70					0	0	0	0	G	72956711	A	G	72956711	3	3	108	1	0	0	0	0	1	0	0	0	16574	449	16	5	1832	5	TRHDE	12	72956711	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	15038209	72956711	60895184	145	20791											
KCNC2	3747	broad.mit.edu	37	chr12	75601187	75601187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cccgagccccgccgcgtcctCgatgcccagcctcttggccg	3	6	11	21	6	1	0	0	0	1	0	3	2	2	0	8	1	3	0	8	1	0	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:75601187C>G	ENST00000549446.1	-	2	1257	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	KCNC2_ENST00000350228.2_Missense_Mutation_p.E193Q|KCNC2_ENST00000548513.1_Missense_Mutation_p.E193Q|KCNC2_ENST00000393288.2_Missense_Mutation_p.E193Q|KCNC2_ENST00000550433.1_Missense_Mutation_p.E193Q|KCNC2_ENST00000298972.1_Missense_Mutation_p.E193Q|KCNC2_ENST00000341669.3_Missense_Mutation_p.E193Q|KCNC2_ENST00000540018.1_Missense_Mutation_p.E193Q	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	193					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GCCGCGTCCTCGATGCCCAGC	0.721													4	22					0	0	0	0	G	75601187	C	G	75601187	3	3	108	1	0	0	0	0	1	0	0	0	8068	893	31	3	1421	3	KCNC2	12	75601187	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	2644476	75601187	58250708	146	20792											
GLIPR1	11010	broad.mit.edu	37	chr12	75892486	75892486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttacagttaaccgacagcGagaccaagtcaaacgtacgt	14	8	8	11	4	1	1	1	0	0	1	1	3	1	1	2	0	5	2	2	0	5	4	rs3736392	by1000genomes	TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:75892486G>A	ENST00000266659.3	+	5	833	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	KRR1_ENST00000229214.4_3'UTR	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	211			R -> Q (in dbSNP:rs3736392).		cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						AACCGACAGCGAGACCAAGTC	0.323													11	34					0	0	0	0	A	75892486	G	A	75892486	3	1	108	1	0	0	0	0	1	0	0	0	6492	1058	37	1	650	1	GLIPR1	12	75892486	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	291299	75892486	57959409	147	20793											
PPP1R12A	4659	broad.mit.edu	37	chr12	80226236	80226236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatctctaagcatgatccGttcttcttcctttcgagctg	6	15	8	12	2	3	1	0	1	3	0	7	2	5	1	2	1	2	4	2	1	1	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:80226236G>A	ENST00000450142.2	-	4	789	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.R175W|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.R88W|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.R175W|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.R175W	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	175						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						AGCATGATCCGTTCTTCTTCC	0.388													21	114					0	0	0	0	A	80226236	G	A	80226236	3	1	108	1	0	0	0	0	1	0	0	0	12430	1144	40	1	2657	1	PPP1R12A	12	80226236	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	4333750	80226236	53625659	148	20794											
ACSS3	79611	broad.mit.edu	37	chr12	81472018	81472018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagggctttagtggtccCgggcccgcggggcggtctcg	2	8	17	14	5	2	0	1	0	1	0	4	0	3	0	3	6	0	1	3	6	1	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:81472018C>T	ENST00000548058.1	+	1	1029	c.119C>T	c.(118-120)cCg>cTg	p.P40L	ACSS3_ENST00000261206.3_Missense_Mutation_p.P40L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	40						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTAGTGGTCCCGGGCCCGCGG	0.731													3	19					0	0	0	0	T	81472018	C	T	81472018	3	4	108	1	0	0	0	0	1	0	0	0	190	652	23	1	121	1	ACSS3	12	81472018	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	1245782	81472018	52379877	149	20795											
TMTC2	160335	broad.mit.edu	37	chr12	83250841	83250841	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaactccatggacgcacAttttctacaatgatttttgg	12	13	7	9	1	1	2	0	1	1	1	2	3	2	3	1	2	2	1	1	2	3	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:83250841A>G	ENST00000549919.1	+	3	1923	c.118A>G	c.(118-120)Att>Gtt	p.I40V	TMTC2_ENST00000548305.1_Missense_Mutation_p.I46V|TMTC2_ENST00000321196.3_Missense_Mutation_p.I46V			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	46						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ATGGACGCACATTTTCTACAA	0.428													61	117					0	0	0	0	G	83250841	A	G	83250841	3	3	108	1	0	0	0	0	1	0	0	0	16355	217	8	5	142	5	TMTC2	12	83250841	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	1778823	83250841	50601054	150	20796											
APAF1	317	broad.mit.edu	37	chr12	99056319	99056319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattcttcttacaaccagaGacaagagtgttacagattca	15	11	7	8	0	3	4	1	0	2	4	3	5	3	4	1	0	3	1	1	0	4	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:99056319G>T	ENST00000357310.1	+	6	1373	c.796G>T	c.(796-798)Gac>Tac	p.D266Y	APAF1_ENST00000547045.1_Missense_Mutation_p.D266Y|APAF1_ENST00000552268.1_Missense_Mutation_p.D266Y|APAF1_ENST00000549007.1_Missense_Mutation_p.D266Y|APAF1_ENST00000359972.2_Missense_Mutation_p.D255Y|APAF1_ENST00000339433.3_Missense_Mutation_p.D266Y|APAF1_ENST00000333991.1_Missense_Mutation_p.D266Y|APAF1_ENST00000550527.1_Missense_Mutation_p.D255Y|APAF1_ENST00000551964.1_Missense_Mutation_p.D266Y	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	266	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	p.D266Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TACAACCAGAGACAAGAGTGT	0.313													17	25					2.48551e-13	3.16521e-13	1	0	T	99056319	G	T	99056319	3	4	108	1	0	0	0	0	1	0	0	0	756	942	33	2	814	2	APAF1	12	99056319	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	15805478	99056319	34795576	151	20797											
ANO4	121601	broad.mit.edu	37	chr12	101381432	101381432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacactgcccctttcagcCagcaaaggatccatcagtga	11	8	8	14	0	2	1	2	1	0	0	3	2	3	2	4	1	4	2	4	1	2	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:101381432C>A	ENST00000392979.3	+	7	974	c.613C>A	c.(613-615)Cag>Aag	p.Q205K	ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.Q240K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	240						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCCTTTCAGCCAGCAAAGGAT	0.527										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	142					8.16721e-17	1.08433e-16	1	0	A	101381432	C	A	101381432	3	1	108	1	0	0	0	0	1	0	0	0	698	595	21	4	635	4	ANO4	12	101381432	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	2325113	101381432	32470463	152	20798											
CCDC92	80212	broad.mit.edu	37	chr12	124421993	124421993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctttttcatgcggcggCgaggcgtttcgggtagcttg	3	13	16	9	5	2	0	1	0	1	0	3	1	2	0	0	5	2	4	0	5	1	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr12:124421993C>T	ENST00000545135.1	-	3	3853	c.557G>A	c.(556-558)cGc>cAc	p.R186H	CCDC92_ENST00000238156.3_Missense_Mutation_p.R203H|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.R186H			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	203										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CATGCGGCGGCGAGGCGTTTC	0.612													33	51					0	0	0	0	T	124421993	C	T	124421993	3	4	108	1	0	0	0	0	1	0	0	0	2898	768	27	1	391	1	CCDC92	12	124421993	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	23040561	124421993	9429902	153	20799											
N6AMT2	221143	broad.mit.edu	37	chr13	21311925	21311925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagagcagtttcctgactaTaccaaaactggctcagttgc	11	10	9	11	0	1	2	1	1	0	1	2	2	2	2	2	1	4	5	2	1	4	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:21311925T>C	ENST00000382758.1	-	3	211	c.164A>G	c.(163-165)tAt>tGt	p.Y55C	N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y55C			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	55							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTCCTGACTATACCAAAACTG	0.393													13	16					0	0	0	0	C	21311925	T	C	21311925	3	2	108	1	0	0	0	0	1	0	0	0	10185	1406	49	5	492	5	N6AMT2	13	21311925	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08		21311925	93857953	154	20800											
FLT1	2321	broad.mit.edu	37	chr13	28931821	28931821	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctggtcctaaaataatTcctgaggggtgagagatgtt	10	13	11	7	0	0	3	0	2	0	1	3	4	3	3	3	3	0	1	3	3	3	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:28931821T>A	ENST00000282397.4	-	15	2369	c.2116_splice	c.e15-1	p.G706_splice		NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	706	Ig-like C2-type 7.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTAAAATAATTCCTGAGGGGT	0.443													64	50					0	0	0	0	A	28931821	T	A	28931821	5	1	108	1	0	0	0	0	0	0	1	0	5986	1797	62	5	1962	5	FLT1	13	28931821	Splice_Site	SNP	T	TCGA-CN-6995-01A-31D-2012-08	7619896	28931821	86238057	155	20801											
SIAH3	283514	broad.mit.edu	37	chr13	46357673	46357673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcactcaagaacagaccGgggcgtggcctcccacttga	10	5	11	15	3	1	3	1	1	0	2	2	3	2	3	3	3	1	1	3	3	2	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:46357673G>A	ENST00000400405.2	-	2	761	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	219					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGAACAGACCGGGGCGTGGCC	0.617													22	26					0	0	0	0	A	46357673	G	A	46357673	3	1	108	1	0	0	0	0	1	0	0	0	14389	1115	39	1	158	1	SIAH3	13	46357673	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	17425852	46357673	68812205	156	20802											
SLITRK5	26050	broad.mit.edu	37	chr13	88329467	88329467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacatgcgctccattaagtcGgagctgctgtgccctgacta	8	10	11	12	2	0	1	0	1	0	0	2	3	1	2	2	1	4	3	2	1	2	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:88329467G>A	ENST00000325089.6	+	2	2043	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	SLITRK5_ENST00000400028.3_Silent_p.S367S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	608	LRRCT 2.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCATTAAGTCGGAGCTGCTGT	0.582													23	154					0	0	0	0	A	88329467	G	A	88329467	2	1	108	1	0	0	0	0	0	0	0	1	14834	1103	39	1		1	SLITRK5	13	88329467	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	41971794	88329467	26840411	157	20803											
NALCN	259232	broad.mit.edu	37	chr13	101997697	101997697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcatttaaatccaggtGggcactggtagccttcttct	8	13	9	11	0	2	0	0	0	2	0	3	0	3	0	3	3	2	3	3	3	3	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:101997697G>T	ENST00000251127.6	-	7	800	c.719C>A	c.(718-720)cCa>cAa	p.P240Q	NALCN_ENST00000376196.3_Missense_Mutation_p.P240Q|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	240						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAATCCAGGTGGGCACTGGTA	0.448													51	42					5.13769e-22	7.03052e-22	1	0	T	101997697	G	T	101997697	3	4	108	1	0	0	0	0	1	0	0	0	10218	1348	47	4	4649	4	NALCN	13	101997697	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	13668230	101997697	13172181	158	20804											
IRS2	8660	broad.mit.edu	37	chr13	110436062	110436062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggagaagaagtcgggcGgggtgcccgtggtgaccgcg	6	5	20	10	6	0	3	0	1	0	2	1	4	0	3	2	5	2	0	2	5	2	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr13:110436062G>A	ENST00000375856.3	-	1	2853	c.2339C>T	c.(2338-2340)cCg>cTg	p.P780L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	780					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GAAGTCGGGCGGGGTGCCCGT	0.692													7	3					0	0	0	0	A	110436062	G	A	110436062	3	1	108	1	0	0	0	0	1	0	0	0	7894	1116	39	1	1685	1	IRS2	13	110436062	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	8438365	110436062	4733816	159	20805											
JPH4	84502	broad.mit.edu	37	chr14	24045142	24045142	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgccctcgtagcgcagcccGttggagcgctggctgacgcc	4	7	14	16	6	0	1	0	1	0	0	2	2	0	2	3	2	3	5	3	2	1	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:24045142G>A	ENST00000397118.3	-	4	1805	c.903C>T	c.(901-903)aaC>aaT	p.N301N	JPH4_ENST00000356300.4_Silent_p.N301N	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	301					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		p.N301K(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGCGCAGCCCGTTGGAGCGCT	0.746													5	25					0	0	0	0	A	24045142	G	A	24045142	2	1	108	1	0	0	0	0	0	0	0	1	8016	1136	40	1		1	JPH4	14	24045142	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08		24045142	83304398	160	20806											
NPAS3	64067	broad.mit.edu	37	chr14	33684540	33684540	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccatcattcgacttacaaTtagctatctgaaaatgaggg	14	12	7	8	1	2	2	1	2	1	0	4	3	3	2	1	1	2	1	1	1	6	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:33684540T>A	ENST00000346562.2	+	2	277	c.203T>A	c.(202-204)aTt>aAt	p.I68N	NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000356141.4_Missense_Mutation_p.I98N|NPAS3_ENST00000341321.4_Missense_Mutation_p.I98N|NPAS3_ENST00000357798.5_Missense_Mutation_p.I68N|NPAS3_ENST00000548645.1_Missense_Mutation_p.I68N|NPAS3_ENST00000551492.1_Missense_Mutation_p.I105N	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CGACTTACAATTAGCTATCTG	0.463													34	66					0	0	0	0	A	33684540	T	A	33684540	3	1	108	1	0	0	0	0	1	0	0	0	10634	1493	52	5	303	5	NPAS3	14	33684540	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	9639398	33684540	73665000	161	20807											
LRFN5	145581	broad.mit.edu	37	chr14	42360587	42360587	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtcgtgggttgcatccAgtttactacggaacaggatt	11	11	12	7	2	0	1	0	0	0	1	2	3	1	3	1	3	4	3	1	3	4	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:42360587A>G	ENST00000298119.4	+	4	2709	c.1520A>G	c.(1519-1521)cAg>cGg	p.Q507R	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	507						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGTTGCATCCAGTTTACTACG	0.433										HNSCC(30;0.082)			25	95					0	0	0	0	G	42360587	A	G	42360587	3	3	108	1	0	0	0	0	1	0	0	0	9005	188	7	5	1526	5	LRFN5	14	42360587	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	8676047	42360587	64988953	162	20808											
GPR137C	283554	broad.mit.edu	37	chr14	53020234	53020234	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcacctgcacttcttcccCcactggctgctctactgctt	4	13	6	18	0	3	0	1	0	2	0	4	0	4	0	3	1	4	5	3	1	1	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:53020234C>A	ENST00000321662.6	+	1	369	c.369C>A	c.(367-369)ccC>ccA	p.P123P		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	123						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					ACTTCTTCCCCCACTGGCTGC	0.672													12	56					7.03913e-09	8.51243e-09	1	0	A	53020234	C	A	53020234	2	1	108	1	0	0	0	0	0	0	0	1	6696	610	22	4		4	GPR137C	14	53020234	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	10659647	53020234	54329306	163	20809											
PSMC6	5706	broad.mit.edu	37	chr14	53173987	53173987	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggactaccgcaagaagttgcTtgaacacaaggagatcgacg	14	6	12	9	3	0	3	0	1	0	2	1	6	0	4	1	2	3	3	1	2	5	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:53173987T>C	ENST00000445930.2	+	1	98	c.92T>C	c.(91-93)cTt>cCt	p.L31P	PSMC6_ENST00000606149.1_Missense_Mutation_p.L17P			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	17					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					AAGAAGTTGCTTGAACACAAG	0.537													7	30					0	0	0	0	C	53173987	T	C	53173987	3	2	108	1	0	0	0	0	1	0	0	0	12770	1609	56	5	94	5	PSMC6	14	53173987	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	153753	53173987	54175553	164	20810											
RIN3	79890	broad.mit.edu	37	chr14	93118018	93118018	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggattccccctagtctcCagcctcaggcccacagccca	7	6	7	21	1	2	0	1	0	1	0	4	1	3	1	7	2	2	0	7	2	1	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr14:93118018C>G	ENST00000216487.7	+	6	783	c.624C>G	c.(622-624)tcC>tcG	p.S208S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	208					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCCTAGTCTCCAGCCTCAGGC	0.572													17	65					0	0	0	0	G	93118018	C	G	93118018	2	3	108	1	0	0	0	0	0	0	0	1	13458	581	21	4		4	RIN3	14	93118018	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	39944031	93118018	14231522	165	20811											
ATP10A	57194	broad.mit.edu	37	chr15	25940059	25940059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgacagcagaggacggagcGgcactgcttggcaaggaaga	12	3	16	10	3	0	2	0	0	0	2	0	6	0	5	1	5	3	4	1	5	2	1	rs147432497		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:25940059G>A	ENST00000356865.6	-	14	3106	c.2995C>T	c.(2995-2997)Cgc>Tgc	p.R999C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	999					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGACGGAGCGGCACTGCTTG	0.597													12	42					0	0	0	0	A	25940059	G	A	25940059	3	1	108	1	0	0	0	0	1	0	0	0	1120	1116	39	1	1536	1	ATP10A	15	25940059	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08		25940059	76591333	166	20812											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32921915	32921915	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcacaattttaactttGagctgttgccaagtaatctc	12	14	6	9	0	2	1	1	1	1	0	3	1	2	1	1	0	4	4	1	0	5	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:32921915G>T	ENST00000361627.3	+	8	1779	c.1057G>T	c.(1057-1059)Gag>Tag	p.E353*	ARHGAP11A_ENST00000563864.1_Nonsense_Mutation_p.E353*|ARHGAP11A_ENST00000567348.1_Nonsense_Mutation_p.E353*|ARHGAP11A_ENST00000565905.1_Nonsense_Mutation_p.E164*|ARHGAP11A_ENST00000543522.1_Nonsense_Mutation_p.E164*	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	353					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TTTTAACTTTGAGCTGTTGCC	0.353													11	33					1.08611e-07	1.27874e-07	1	0	T	32921915	G	T	32921915	4	4	108	1	0	0	0	0	0	1	0	0	865	1291	45	2	1087	2	ARHGAP11A	15	32921915	Nonsense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	6981856	32921915	69609477	167	20813											
THBS1	7057	broad.mit.edu	37	chr15	39886511	39886511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccctgcagagtggtgatGtatgaagggaagaaaatcat	13	11	12	5	0	1	4	1	2	0	2	2	5	2	5	1	2	1	2	1	2	5	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:39886511G>T	ENST00000260356.5	+	21	3540	c.3375G>T	c.(3373-3375)atG>atT	p.M1125I		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1125	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GAGTGGTGATGTATGAAGGGA	0.388													23	40					1.87028e-06	2.12192e-06	1	0	T	39886511	G	T	39886511	3	4	108	1	0	0	0	0	1	0	0	0	15947	1377	48	4	3453	4	THBS1	15	39886511	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	6964596	39886511	62644881	168	20814											
DLL4	54567	broad.mit.edu	37	chr15	41228746	41228746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgctgcgagttccccGtgggcttgccgcccagcttc	3	8	13	17	4	0	0	0	0	0	0	2	1	1	0	5	1	4	5	5	1	0	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:41228746G>A	ENST00000249749.5	+	9	1837	c.1561G>A	c.(1561-1563)Gtg>Atg	p.V521M		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	521					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CGAGTTCCCCGTGGGCTTGCC	0.652													7	13					0	0	0	0	A	41228746	G	A	41228746	3	1	108	1	0	0	0	0	1	0	0	0	4605	1145	40	1	1595	1	DLL4	15	41228746	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	1342235	41228746	61302646	169	20815											
LTK	4058	broad.mit.edu	37	chr15	41804997	41804997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacgctggtccccgcgtaCgccccgtcacattgtgtctg	5	9	10	17	5	2	0	1	0	1	0	3	0	3	0	5	1	1	2	5	1	1	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:41804997C>T	ENST00000263800.6	-	3	363	c.267G>A	c.(265-267)gcG>gcA	p.A89A	LTK_ENST00000355166.5_Silent_p.A89A|LTK_ENST00000453182.2_Silent_p.A89A|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	89					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCCCCGCGTACGCCCCGTCAC	0.692										TSP Lung(18;0.14)			5	26					0	0	0	0	T	41804997	C	T	41804997	2	4	108	1	0	0	0	0	0	0	0	1	9144	523	19	1		1	LTK	15	41804997	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	576251	41804997	60726395	170	20816											
ADAL	161823	broad.mit.edu	37	chr15	43638089	43638089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaagaggtggccctttaGtagccaaggagactgtaaaa	15	7	12	7	0	0	3	0	0	0	3	0	4	0	3	2	3	1	2	2	3	6	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:43638089G>A	ENST00000422466.2	+	9	1037	c.463G>A	c.(463-465)Gta>Ata	p.V155I	ADAL_ENST00000428046.3_Missense_Mutation_p.V155I|ADAL_ENST00000389651.4_Missense_Mutation_p.V155I|ADAL_ENST00000562188.1_Missense_Mutation_p.V155I			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	155					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		TGGCCCTTTAGTAGCCAAGGA	0.408													28	49					0	0	0	0	A	43638089	G	A	43638089	3	1	108	1	0	0	0	0	1	0	0	0	233	1029	36	4	485	4	ADAL	15	43638089	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	1833092	43638089	58893303	171	20817											
SPG11	80208	broad.mit.edu	37	chr15	44890998	44890998	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtatgtggaaggaggagagCcctataacataggcttcatt	12	10	13	6	0	1	1	1	0	0	1	1	4	1	3	1	5	2	2	1	5	5	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:44890998C>A	ENST00000261866.7	-	22	3739	c.3723G>T	c.(3721-3723)ggG>ggT	p.G1241G	SPG11_ENST00000558319.1_Silent_p.G1241G|SPG11_ENST00000535302.2_Silent_p.G1241G|SPG11_ENST00000427534.2_Silent_p.G1241G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1241					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGGAGGAGAGCCCTATAACAT	0.418													18	37					3.41278e-10	4.24218e-10	1	0	A	44890998	C	A	44890998	2	1	108	1	0	0	0	0	0	0	0	1	15131	726	26	4		4	SPG11	15	44890998	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	1252909	44890998	57640394	172	20818											
HERC1	8925	broad.mit.edu	37	chr15	63986610	63986610	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaacaactgcaggggcTgtcctagcatggtgtctgta	8	11	13	9	0	1	0	0	0	1	0	2	0	2	0	1	4	4	5	1	4	4	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:63986610T>A	ENST00000443617.2	-	29	5468	c.5381A>T	c.(5380-5382)cAg>cTg	p.Q1794L	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1794					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTGCAGGGGCTGTCCTAGCAT	0.473													18	40					0	0	0	0	A	63986610	T	A	63986610	3	1	108	1	0	0	0	0	1	0	0	0	7107	1580	55	5	9404	5	HERC1	15	63986610	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	19095612	63986610	38544782	173	20819											
IGDCC3	9543	broad.mit.edu	37	chr15	65667661	65667661	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccctccaccctgcagtcCagcactataggctgcccggg	6	7	10	18	1	0	0	0	0	0	0	3	0	3	0	6	2	3	3	6	2	2	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:65667661C>A	ENST00000327987.4	-	2	434	c.183G>T	c.(181-183)ctG>ctT	p.L61L		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	61	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCTGCAGTCCAGCACTATAG	0.592													9	28					3.07112e-06	3.4717e-06	1	0	A	65667661	C	A	65667661	2	1	108	1	0	0	0	0	0	0	0	1	7621	581	21	4		4	IGDCC3	15	65667661	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	1681051	65667661	36863731	174	20820											
MAP2K5	5607	broad.mit.edu	37	chr15	67873104	67873104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcagtattattccacaGtaatggaacagcaagtaaat	15	12	7	7	0	0	0	0	0	0	0	1	1	1	1	1	1	3	5	1	1	7	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:67873104G>T	ENST00000178640.5	+	4	892	c.265G>T	c.(265-267)Gta>Tta	p.V89L	MAP2K5_ENST00000395476.2_Missense_Mutation_p.V89L|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000354498.5_Missense_Mutation_p.V53L	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	89	OPR.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TTATTCCACAGTAATGGAACA	0.333													22	54					4.47668e-21	6.07271e-21	1	0	T	67873104	G	T	67873104	3	4	108	1	0	0	0	0	1	0	0	0	9309	1029	36	4	279	4	MAP2K5	15	67873104	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	2205443	67873104	34658288	175	20821											
ARNT2	9915	broad.mit.edu	37	chr15	80867386	80867386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaagtccgtggaaaaggCggatgcaatcttctcccagg	10	7	14	10	3	2	0	0	0	2	0	4	3	3	3	2	5	1	1	2	5	4	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:80867386C>T	ENST00000533983.1	+	15	1754	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	ARNT2_ENST00000303329.4_Missense_Mutation_p.A483V|ARNT2_ENST00000527771.1_Missense_Mutation_p.A472V			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	483					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GTGGAAAAGGCGGATGCAATC	0.473													5	131					0	0	0	0	T	80867386	C	T	80867386	3	4	108	1	0	0	0	0	1	0	0	0	970	768	27	1	1502	1	ARNT2	15	80867386	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	12994282	80867386	21664006	176	20822											
SH3GL3	6457	broad.mit.edu	37	chr15	84255793	84255793	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcattagactatcacagacAgtccacagagattctgcagg	14	8	9	10	0	2	3	1	0	1	3	3	4	3	3	1	1	2	2	1	1	2	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:84255793A>T	ENST00000324537.5	+	10	1199	c.707A>T	c.(706-708)cAg>cTg	p.Q236L	SH3GL3_ENST00000434347.1_Missense_Mutation_p.Q236L|SH3GL3_ENST00000427482.2_Missense_Mutation_p.Q228L|SH3GL3_ENST00000535412.1_Missense_Mutation_p.Q228L			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	228	BAR.|Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TATCACAGACAGTCCACAGAG	0.502													5	17					0	0	0	0	T	84255793	A	T	84255793	3	4	108	1	0	0	0	0	1	0	0	0	14340	188	7	5	709	5	SH3GL3	15	84255793	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	3388407	84255793	18275599	177	20823											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84506852	84506852	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttggcaggcagtgggctgCgatcggcaactgggaagcaa	9	7	17	8	2	0	0	0	0	0	0	1	2	0	1	0	5	3	6	0	5	3	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr15:84506852C>A	ENST00000286744.5	+	7	836	c.612C>A	c.(610-612)tgC>tgA	p.C204*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.C204*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	204						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGTGGGCTGCGATCGGCAAC	0.567													15	62					3.27435e-08	3.91417e-08	1	0	A	84506852	C	A	84506852	4	1	108	1	0	0	0	0	0	1	0	0	276	776	27	3	634	3	ADAMTSL3	15	84506852	Nonsense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	251059	84506852	18024540	178	20824											
AXIN1	8312	broad.mit.edu	37	chr16	339603	339603	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccaccttcctctgcgatcTtgtcctggggaaagagatgc	7	10	11	13	1	2	1	0	0	2	1	4	4	4	2	4	2	2	0	4	2	1	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:339603T>C	ENST00000262320.3	-	10	2670	c.2299A>G	c.(2299-2301)Aga>Gga	p.R767G	AXIN1_ENST00000354866.3_Missense_Mutation_p.R731G	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	767	Interaction with PPP2CA.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTCTGCGATCTTGTCCTGGGG	0.637													8	28					0	0	0	0	C	339603	T	C	339603	3	2	108	1	0	0	0	0	1	0	0	0	1240	1617	56	5	297	5	AXIN1	16	339603	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08		339603	90015150	179	20825											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1818367	1818367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatgccgtgaagttctttGtctcggtgccaggtgaggct	5	12	15	9	3	2	2	0	2	2	0	3	3	2	2	2	3	2	2	2	3	1	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:1818367G>T	ENST00000250894.4	+	30	3884	c.3727G>T	c.(3727-3729)Gtc>Ttc	p.V1243F	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.V1237F	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1243					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|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						GAAGTTCTTTGTCTCGGTGCC	0.652													27	60					1.5548e-18	2.08196e-18	1	0	T	1818367	G	T	1818367	3	4	108	1	0	0	0	0	1	0	0	0	9355	1377	48	4	3861	4	MAPK8IP3	16	1818367	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	1478764	1818367	88536386	180	20826											
E4F1	1877	broad.mit.edu	37	chr16	2273689	2273689	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgaagccgggcgggaagcGggcgagggtgcagttgcggc	6	3	22	10	6	0	0	0	0	0	0	0	3	0	1	2	5	4	2	2	5	2	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:2273689G>A	ENST00000301727.4	+	1	123	c.75G>A	c.(73-75)gcG>gcA	p.A25A	E4F1_ENST00000565090.1_Silent_p.A25A|E4F1_ENST00000564139.1_Silent_p.A25A	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	25					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GGCGGGAAGCGGGCGAGGGTG	0.741													4	18					0	0	0	0	A	2273689	G	A	2273689	2	1	108	1	0	0	0	0	0	0	0	1	4910	1103	39	1		1	E4F1	16	2273689	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	455322	2273689	88081064	181	20827											
ABCA3	21	broad.mit.edu	37	chr16	2333222	2333222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggagggcgcagaggatgcCcctgagtctctgaagcaggt	8	6	16	11	2	1	3	0	2	1	1	2	5	1	5	3	4	2	2	3	4	1	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:2333222C>A	ENST00000301732.5	-	26	4700	c.4000G>T	c.(4000-4002)Ggc>Tgc	p.G1334C	ABCA3_ENST00000382381.3_Missense_Mutation_p.G1276C	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1334					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CAGAGGATGCCCCTGAGTCTC	0.672													23	39					3.8784e-16	5.10575e-16	1	0	A	2333222	C	A	2333222	3	1	108	1	0	0	0	0	1	0	0	0	33	623	22	4	1146	4	ABCA3	16	2333222	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	59533	2333222	88021531	182	20828											
SRL	6345	broad.mit.edu	37	chr16	4242554	4242554	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaccaggagggcgtggatgCggacccggatggcgtgctgg	7	5	19	10	4	0	0	0	0	0	0	0	4	0	4	2	7	3	1	2	7	1	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:4242554C>G	ENST00000399609.3	-	6	1034	c.1022G>C	c.(1021-1023)cGc>cCc	p.R341P	SRL_ENST00000537996.1_Missense_Mutation_p.R299P	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	800	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.R341H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GGCGTGGATGCGGACCCGGAT	0.512													45	138					0	0	0	0	G	4242554	C	G	4242554	3	3	108	1	0	0	0	0	1	0	0	0	15240	768	27	3	403	3	SRL	16	4242554	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	1909332	4242554	86112199	183	20829											
FAM86A	196483	broad.mit.edu	37	chr16	5143491	5143491	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccataactgacctttttGatgagttctgagagaaagca	12	12	9	8	0	1	5	0	4	1	1	1	6	1	5	2	0	3	2	2	0	2	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:5143491G>T	ENST00000427587.4	-	3	302	c.234C>A	c.(232-234)atC>atA	p.I78I	FAM86A_ENST00000458008.4_Silent_p.I78I|FAM86A_ENST00000587133.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	78										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TGACCTTTTTGATGAGTTCTG	0.577													9	43					2.74318e-10	3.42349e-10	1	0	T	5143491	G	T	5143491	2	4	108	1	0	0	0	0	0	0	0	1	5689	1280	45	2		2	FAM86A	16	5143491	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	900937	5143491	85211262	184	20830											
RBBP6	5930	broad.mit.edu	37	chr16	24567192	24567192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatcttacacgtgtttccGttgtggtaaacctggacatt	8	15	8	10	2	1	0	0	0	1	0	3	1	3	1	3	2	2	3	3	2	3	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:24567192G>A	ENST00000319715.4	+	6	920	c.488G>A	c.(487-489)cGt>cAt	p.R163H	RBBP6_ENST00000381039.3_Missense_Mutation_p.R163H|RBBP6_ENST00000348022.2_Missense_Mutation_p.R163H	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	163					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACGTGTTTCCGTTGTGGTAAA	0.358													10	19					0	0	0	0	A	24567192	G	A	24567192	3	1	108	1	0	0	0	0	1	0	0	0	13185	1145	40	1	564	1	RBBP6	16	24567192	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	19423701	24567192	65787561	185	20831											
CDIPT	10423	broad.mit.edu	37	chr16	29872572	29872572	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtccagcatggccccaaAccgggttcctggaagattag	10	8	11	12	1	0	1	0	0	0	1	2	2	2	2	5	3	2	2	5	3	3	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:29872572A>T	ENST00000219789.6	-	3	1065	c.187T>A	c.(187-189)Ttt>Att	p.F63I	CDIPT_ENST00000570016.1_Missense_Mutation_p.F63I|CDIPT_ENST00000563415.1_Missense_Mutation_p.F63I|CDIPT_ENST00000561555.1_Missense_Mutation_p.F87I|CDIPT_ENST00000566113.1_Missense_Mutation_p.F18I|CDIPT_ENST00000569956.1_Missense_Mutation_p.F63I	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	63						endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity			endometrium(1)|lung(3)	4						ATGGCCCCAAACCGGGTTCCT	0.562													10	25					0	0	0	0	T	29872572	A	T	29872572	3	4	108	1	0	0	0	0	1	0	0	0	3152	43	2	5	470	5	CDIPT	16	29872572	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	5305380	29872572	60482181	186	20832											
ITGAL	3683	broad.mit.edu	37	chr16	30490651	30490651	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgcgtctggcttctgcaGaatgtatcaagggcaacgta	9	11	11	10	2	3	1	1	0	2	1	3	1	3	1	1	2	3	5	1	2	5	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:30490651G>A	ENST00000356798.6	+	6	625		c.e6-1		RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000454514.2_Intron|ITGAL_ENST00000358164.5_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGCTTCTGCAGAATGTATCAA	0.473													23	40					0	0	0	0	A	30490651	G	A	30490651	5	1	108	1	0	0	0	0	0	0	1	0	7939	956	33	2	467	2	ITGAL	16	30490651	Splice_Site	SNP	G	TCGA-CN-6995-01A-31D-2012-08	618079	30490651	59864102	187	20833											
SIAH1	6477	broad.mit.edu	37	chr16	48399304	48399304	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaatgtcaataccttttcTcttccttgtcctggccgctg	5	17	6	13	1	2	0	1	0	1	0	5	0	4	0	4	1	1	1	4	1	3	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:48399304T>A	ENST00000356721.3	-	1	508	c.85A>T	c.(85-87)Aga>Tga	p.R29*	SIAH1_ENST00000573005.1_5'UTR|SIAH1_ENST00000394725.2_Intron	NM_001006610.1	NP_001006611.1	Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	0					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				ATACCTTTTCTCTTCCTTGTC	0.507													5	20					0	0	0	0	A	48399304	T	A	48399304	4	1	108	1	0	0	0	0	0	1	0	0	14387	1559	54	5	864	5	SIAH1	16	48399304	Nonsense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	17908653	48399304	41955449	188	20834											
NLRC5	84166	broad.mit.edu	37	chr16	57067576	57067576	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcagagcagaagcttgacGctcaggtaccttggagggat	10	8	14	9	1	2	3	2	1	0	2	2	5	2	5	1	3	3	5	1	3	2	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:57067576G>A	ENST00000436936.1	+	12	2763	c.2538G>A	c.(2536-2538)acG>acA	p.T846T	NLRC5_ENST00000308149.7_Silent_p.T846T|NLRC5_ENST00000262510.6_Silent_p.T846T|NLRC5_ENST00000539144.1_Silent_p.T846T			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	846					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAAGCTTGACGCTCAGGTACC	0.547													21	54					0	0	0	0	A	57067576	G	A	57067576	2	1	108	1	0	0	0	0	0	0	0	1	10540	1074	38	1		1	NLRC5	16	57067576	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	8668272	57067576	33287177	189	20835											
CHST6	4166	broad.mit.edu	37	chr16	75512874	75512874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaggcgtagagcgcacGgatttctgccagcggctccc	8	7	14	12	4	1	2	0	1	1	1	2	3	2	3	2	3	3	3	2	3	2	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:75512874G>A	ENST00000332272.4	-	3	1032	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R285C	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	285					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TAGAGCGCACGGATTTCTGCC	0.677													6	85					0	0	0	0	A	75512874	G	A	75512874	3	1	108	1	0	0	0	0	1	0	0	0	3437	1116	39	1	338	1	CHST6	16	75512874	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	18445298	75512874	14841879	190	20836											
HSDL1	83693	broad.mit.edu	37	chr16	84163848	84163848	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtccttcagggcttctcGaattggaaggtagatctcac	8	14	10	9	1	3	1	2	0	2	1	6	3	4	2	1	3	0	2	1	3	3	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr16:84163848G>A	ENST00000219439.4	-	4	585	c.409C>T	c.(409-411)Cga>Tga	p.R137*	HSDL1_ENST00000434463.3_Intron	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	137						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						AGGGCTTCTCGAATTGGAAGG	0.473													8	151					0	0	0	0	A	84163848	G	A	84163848	4	1	108	1	0	0	0	0	0	1	0	0	7443	1066	37	1	595	1	HSDL1	16	84163848	Nonsense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	8650974	84163848	6190905	191	20837											
VPS53	55275	broad.mit.edu	37	chr17	465756	465756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcacttgggcaggttgcCagagaggattttccaggcgt	8	10	14	9	1	1	1	1	0	0	1	2	4	2	2	2	4	1	2	2	4	0	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:465756C>A	ENST00000437048.2	-	14	1689	c.1543G>T	c.(1543-1545)Ggc>Tgc	p.G515C	VPS53_ENST00000446250.2_Missense_Mutation_p.G317C|VPS53_ENST00000401468.3_Missense_Mutation_p.G238C|VPS53_ENST00000571805.1_Missense_Mutation_p.G515C|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000291074.5_Missense_Mutation_p.G486C|VPS53_ENST00000574029.1_Intron	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	515					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GGCAGGTTGCCAGAGAGGATT	0.478													22	59					1.85244e-09	2.25766e-09	1	0	A	465756	C	A	465756	3	1	108	1	0	0	0	0	1	0	0	0	17311	594	21	4	1006	4	VPS53	17	465756	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08		465756	80729454	192	20838											
ZZEF1	23140	broad.mit.edu	37	chr17	3926063	3926063	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgctgcactttttcacCagcaacttcagcaaatcggt	9	13	6	13	1	2	0	2	0	0	0	3	0	2	0	2	1	5	4	2	1	2	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:3926063C>G	ENST00000381638.2	-	44	7276	c.7152G>C	c.(7150-7152)ctG>ctC	p.L2384L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2384							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACTTTTTCACCAGCAACTTCA	0.517													15	44					0	0	0	0	G	3926063	C	G	3926063	2	3	108	1	0	0	0	0	0	0	0	1	18346	581	21	4		4	ZZEF1	17	3926063	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	3460307	3926063	77269147	193	20839											
TP53	7157	broad.mit.edu	37	chr17	7576858	7576858	+	Frame_Shift_Del	DEL	G	G	-																															cccaagacttagtacctgaaGggtgaaatattctccatcca																										TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:7576858delG	ENST00000420246.2	-	9	1120	c.988delC	c.(988-990)ttfs	p.L330fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.L330fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L330fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L330fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.L330fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	330	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		L -> H (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L330fs*15(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGTACCTGAAGGGTGAAATAT	0.453		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	70	---	---	---	---					-	7576858	G	-	7576858	7	5	108	1	0	1	0	1	0	0	0	0	16476	1000	35	0	294	0	TP53	17	7576858	Frame_Shift_Del	DEL	G	TCGA-CN-6995-01A-31D-2012-08	3650795	7576858	73618352	194	20840											
TP53	7157	broad.mit.edu	37	chr17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctccctgggggcagctCgtggtgaggctcccctttct	3	11	14	13	1	1	1	0	1	1	0	4	1	3	1	3	4	2	4	3	4	0	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGGGCAGCTCGTGGTGAGGC	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	54					3.65163e-15	4.78701e-15	1	0	A	7577046	C	A	7577046	4	1	108	1	0	0	0	0	0	1	0	0	16476	893	31	3	394	3	TP53	17	7577046	Nonsense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	188	7577046	73618164	195	20841											
MYH13	8735	broad.mit.edu	37	chr17	10263357	10263357	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactggatgacacgcttggTgttcacagtcttcccagccc	8	11	9	13	1	2	1	1	1	1	0	3	2	3	2	2	2	2	2	2	2	1	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:10263357T>C	ENST00000418404.3	-	6	728	c.565A>G	c.(565-567)Acc>Gcc	p.T189A	MYH13_ENST00000252172.4_Missense_Mutation_p.T189A|MYH13_ENST00000570743.1_Missense_Mutation_p.T189A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	189	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACACGCTTGGTGTTCACAGTC	0.512													15	57					0	0	0	0	C	10263357	T	C	10263357	3	2	108	1	0	0	0	0	1	0	0	0	10102	1696	59	5	5391	5	MYH13	17	10263357	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	2686311	10263357	70931853	196	20842											
MYH3	4621	broad.mit.edu	37	chr17	10535187	10535187	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagctcctgttccgccagTttccgggccctctccgtctg	3	11	11	16	3	2	0	0	0	2	0	6	1	5	1	6	2	1	3	6	2	0	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:10535187T>A	ENST00000583535.1	-	35	5190	c.5103A>T	c.(5101-5103)aaA>aaT	p.K1701N	MYH3_ENST00000226209.7_Missense_Mutation_p.K1701N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1701					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTTCCGCCAGTTTCCGGGCCC	0.637													10	61					0	0	0	0	A	10535187	T	A	10535187	3	1	108	1	0	0	0	0	1	0	0	0	10106	1722	60	5	747	5	MYH3	17	10535187	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	271830	10535187	70660023	197	20843											
ELAC2	60528	broad.mit.edu	37	chr17	12905653	12905653	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaccctgaaccatgggCacactgagggtggggccctc	8	7	12	14	0	1	2	1	2	0	0	2	2	1	2	3	4	1	1	3	4	1	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:12905653C>A	ENST00000338034.4	-	14	1481	c.1242G>T	c.(1240-1242)gtG>gtT	p.V414V	ELAC2_ENST00000395962.2_Silent_p.V395V|ELAC2_ENST00000426905.3_Silent_p.V374V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	414					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GAACCATGGGCACACTGAGGG	0.567													21	54					1.28384e-07	1.50586e-07	1	0	A	12905653	C	A	12905653	2	1	108	1	0	0	0	0	0	0	0	1	5085	697	25	4		4	ELAC2	17	12905653	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	2370466	12905653	68289557	198	20844											
MYO18A	399687	broad.mit.edu	37	chr17	27447762	27447762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccaggagggtgtacagagCctgccacttctccactgcag	8	9	11	13	0	1	1	0	0	1	1	3	2	2	2	4	2	4	2	4	2	1	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:27447762C>T	ENST00000527372.1	-	7	1780	c.1600G>A	c.(1600-1602)Gct>Act	p.A534T	MYO18A_ENST00000531253.1_Missense_Mutation_p.A534T|MYO18A_ENST00000533112.1_Missense_Mutation_p.A534T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A534T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	534	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGTACAGAGCCTGCCACTTC	0.567													25	49					0	0	0	0	T	27447762	C	T	27447762	3	4	108	1	0	0	0	0	1	0	0	0	10135	739	26	4	4708	4	MYO18A	17	27447762	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	14542109	27447762	53747448	199	20845											
KRT28	162605	broad.mit.edu	37	chr17	38948796	38948796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagctcttcaaccactgtCtttaccagtgtggttttgga	7	16	8	10	0	4	0	1	0	3	0	4	1	4	1	2	2	3	2	2	2	3	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:38948796C>A	ENST00000306658.7	-	8	1343	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	426	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CAACCACTGTCTTTACCAGTG	0.348													10	25					3.86212e-05	4.24289e-05	1	0	A	38948796	C	A	38948796	3	1	108	1	0	0	0	0	1	0	0	0	8517	912	32	2	120	2	KRT28	17	38948796	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	11501034	38948796	42246414	200	20846											
CDK5RAP3	80279	broad.mit.edu	37	chr17	46051295	46051295	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcccgtctcttgctttctAgacattcactactttcactg	8	16	4	13	1	4	1	2	0	2	1	6	1	5	1	1	0	2	1	1	0	3	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:46051295A>G	ENST00000536708.2	+	4	368		c.e4-1		RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000338399.4_Splice_Site	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CTTGCTTTCTAGACATTCACT	0.443													35	115					0	0	0	0	G	46051295	A	G	46051295	5	3	108	1	0	0	0	0	0	0	1	0	3176	434	15	5	197	5	CDK5RAP3	17	46051295	Splice_Site	SNP	A	TCGA-CN-6995-01A-31D-2012-08	7102499	46051295	35143915	201	20847											
SDK2	54549	broad.mit.edu	37	chr17	71390387	71390387	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgttgcgatcagcctcgggGacctcgctccagcgcaccag	6	6	12	17	5	1	0	1	0	0	0	4	2	2	1	5	2	3	3	5	2	0	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:71390387G>A	ENST00000392650.3	-	26	3669	c.3669C>T	c.(3667-3669)gtC>gtT	p.V1223V	SDK2_ENST00000388726.3_Silent_p.V1223V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1223	Fibronectin type-III 7.				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						CAGCCTCGGGGACCTCGCTCC	0.652													5	19					0	0	0	0	A	71390387	G	A	71390387	2	1	108	1	0	0	0	0	0	0	0	1	14056	1161	41	2		2	SDK2	17	71390387	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	25339092	71390387	9804823	202	20848											
MGAT5B	146664	broad.mit.edu	37	chr17	74901400	74901400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagctgggggccacccaGagggaccagaagcaggtgcg	11	2	17	11	1	0	3	0	0	0	3	0	4	0	4	3	4	3	2	3	4	2	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr17:74901400G>T	ENST00000569840.2	+	7	1414	c.840G>T	c.(838-840)caG>caT	p.Q280H	MGAT5B_ENST00000301618.4_Missense_Mutation_p.Q280H|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.Q291H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	280						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCCACCCAGAGGGACCAGA	0.627													12	35					5.16669e-11	6.52634e-11	1	0	T	74901400	G	T	74901400	3	4	108	1	0	0	0	0	1	0	0	0	9618	933	33	2	967	2	MGAT5B	17	74901400	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	3511013	74901400	6293810	203	20849											
CIDEA	1149	broad.mit.edu	37	chr18	12262964	12262964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgcaggagctcatcaGcaaggtgccccacatcccgc	9	5	10	17	1	2	0	2	0	0	0	3	1	3	1	4	2	5	3	4	2	1	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr18:12262964G>T	ENST00000320477.9	+	2	244	c.179G>T	c.(178-180)aGc>aTc	p.S60I	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	60	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	p.S94I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAGCTCATCAGCAAGGTGCCC	0.642													8	26					0.00307968	0.00330192	1	0	T	12262964	G	T	12262964	3	4	108	1	0	0	0	0	1	0	0	0	3454	971	34	4	329	4	CIDEA	18	12262964	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08		12262964	65814284	204	20850											
MC2R	4158	broad.mit.edu	37	chr18	13884633	13884633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatcagccattctaccagtaCctgctgcagaagatcatctt	11	11	7	12	0	4	2	2	0	2	2	4	3	4	2	3	0	5	3	3	0	3	4	rs147683219		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr18:13884633C>G	ENST00000327606.3	-	2	1065	c.885G>C	c.(883-885)agG>agC	p.R295S		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	295					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TCTACCAGTACCTGCTGCAGA	0.478													18	57					0	0	0	0	G	13884633	C	G	13884633	3	3	108	1	0	0	0	0	1	0	0	0	9433	506	18	4	12	4	MC2R	18	13884633	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	1621669	13884633	64192615	205	20851											
TCEB3B	51224	broad.mit.edu	37	chr18	44559713	44559713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacagatttgaaacagatCatctttgcctctctgccgtt	9	13	7	12	1	3	3	1	1	2	2	4	3	3	3	3	0	3	1	3	0	1	3	rs143582553		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr18:44559713C>T	ENST00000332567.4	-	1	2275	c.1923G>A	c.(1921-1923)atG>atA	p.M641I	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	641	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGAAACAGATCATCTTTGCCT	0.537													68	80					0	0	0	0	T	44559713	C	T	44559713	3	4	108	1	0	0	0	0	1	0	0	0	15776	826	29	2	342	2	TCEB3B	18	44559713	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	30675080	44559713	33517535	206	20852											
DCC	1630	broad.mit.edu	37	chr18	50450075	50450075	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atactgtgttttcccctcatAgatccaggactgcatagaca	11	12	7	11	0	1	2	1	0	0	2	3	3	3	3	3	1	2	2	3	1	3	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr18:50450075A>G	ENST00000442544.2	+	4	1313		c.e4-1		DCC_ENST00000412726.1_Splice_Site	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma						apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTCCCCTCATAGATCCAGGAC	0.343													14	18					0	0	0	0	G	50450075	A	G	50450075	5	3	108	1	0	0	0	0	0	0	1	0	4314	434	15	5	710	5	DCC	18	50450075	Splice_Site	SNP	A	TCGA-CN-6995-01A-31D-2012-08	5890362	50450075	27627173	207	20853											
MUC16	94025	broad.mit.edu	37	chr19	9062563	9062563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttgagaagagaagtcacagGaagagaagcggaagggaaat	18	4	16	3	1	1	3	1	1	0	3	1	9	1	6	0	3	1	1	0	3	6	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:9062563G>A	ENST00000397910.4	-	3	25086	c.24883C>T	c.(24883-24885)Cct>Tct	p.P8295S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8297	Ser-rich.|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						GAAGTCACAGGAAGAGAAGCG	0.512													22	50					0	0	0	0	A	9062563	G	A	9062563	3	1	108	1	0	0	0	0	1	0	0	0	10043	1174	41	2	18968	2	MUC16	19	9062563	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08		9062563	50066420	208	20854											
MUC16	94025	broad.mit.edu	37	chr19	9086084	9086084	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgaggtctcaggtcGgggatggattgaagaagaca	12	7	17	5	1	1	4	1	2	1	2	3	7	1	7	0	6	1	1	0	6	2	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:9086084G>A	ENST00000397910.4	-	1	5934	c.5731C>T	c.(5731-5733)Cga>Tga	p.R1911*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1911	Ser-rich.|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						GTCTCAGGTCGGGGATGGATT	0.488													11	27					0	0	0	0	A	9086084	G	A	9086084	4	1	108	1	0	0	0	0	0	1	0	0	10043	1124	39	1	38128	1	MUC16	19	9086084	Nonsense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	23521	9086084	50042899	209	20855											
OR7G2	390882	broad.mit.edu	37	chr19	9213532	9213532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgatgactgtgtatctaaGggggtgacaaatggccacat	12	10	12	7	0	1	3	0	3	1	0	1	3	1	3	1	3	0	1	1	3	3	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:9213532G>T	ENST00000305456.2	-	1	450	c.451C>A	c.(451-453)Ctt>Att	p.L151I		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GTGTATCTAAGGGGGTGACAA	0.498													15	28					1.05317e-09	1.28858e-09	1	0	T	9213532	G	T	9213532	3	4	108	1	0	0	0	0	1	0	0	0	11294	1000	35	4	588	4	OR7G2	19	9213532	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	127448	9213532	49915451	210	20856											
CARM1	10498	broad.mit.edu	37	chr19	11018818	11018818	+	Frame_Shift_Del	DEL	C	C	-																															tcttctgccgtgcagtacttCcaggtgggttgtactccccc																										TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:11018818delC	ENST00000327064.4	+	3	640	c.450delC	c.(448-450)ttfs	p.F150fs	CARM1_ENST00000344150.4_Frame_Shift_Del_p.F150fs	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	150					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TGCAGTACTTCCAGGTGGGTT	0.652													32	27	---	---	---	---					-	11018818	C	-	11018818	7	5	108	1	0	1	0	1	0	0	0	0	2680	854	30	0	460	0	CARM1	19	11018818	Frame_Shift_Del	DEL	C	TCGA-CN-6995-01A-31D-2012-08	1805286	11018818	48110165	211	20857											
ZNF563	147837	broad.mit.edu	37	chr19	12433432	12433432	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgatggtttcttgcaTcacatatctgtataaattct	9	18	6	8	0	4	1	1	1	3	0	5	1	5	1	1	1	1	4	1	1	4	7			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:12433432T>C	ENST00000293725.5	-	2	302	c.97A>G	c.(97-99)Atg>Gtg	p.M33V	ZNF563_ENST00000595977.1_Missense_Mutation_p.M33V	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTTTCTTGCATCACATATCTG	0.433													24	49					0	0	0	0	C	12433432	T	C	12433432	3	2	108	1	0	0	0	0	1	0	0	0	18089	1435	50	5	1345	5	ZNF563	19	12433432	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	1414614	12433432	46695551	212	20858											
MEF2B	100271849	broad.mit.edu	37	chr19	19258514	19258514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtcacttacatacagcCggggtcggggcaaggccgga	9	5	17	10	3	1	0	1	0	0	0	2	2	1	2	2	7	3	1	2	7	3	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:19258514C>A	ENST00000602424.2	-	6	1112	c.386G>T	c.(385-387)cGg>cTg	p.R129L	MEF2B_ENST00000424583.2_Missense_Mutation_p.R129L|MEF2B_ENST00000162023.5_Missense_Mutation_p.R129L|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R129L|MEF2B_ENST00000409447.2_Missense_Mutation_p.R129L|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R146L|MEF2B_ENST00000409224.1_Missense_Mutation_p.R132L|MEF2B_ENST00000410050.1_Missense_Mutation_p.R129L|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TACATACAGCCGGGGTCGGGG	0.617													19	45					8.34094e-07	9.60285e-07	1	0	A	19258514	C	A	19258514	3	1	108	1	0	0	0	0	1	0	0	0	9525	652	23	3	744	3	MEF2B	19	19258514	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	6825082	19258514	39870469	213	20859											
RYR1	6261	broad.mit.edu	37	chr19	38976617	38976617	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacttcgctgaggcccccGcatcatttctcgcccccctg	5	9	7	20	3	2	1	1	1	1	0	4	1	2	1	6	1	0	2	6	1	0	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:38976617G>A	ENST00000355481.4	+	34	5453	c.5322G>A	c.(5320-5322)ccG>ccA	p.P1774P	RYR1_ENST00000360985.3_Silent_p.P1774P|RYR1_ENST00000359596.3_Silent_p.P1774P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1774	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGAGGCCCCCGCATCATTTCT	0.692													8	81					0	0	0	0	A	38976617	G	A	38976617	2	1	108	1	0	0	0	0	0	0	0	1	13853	1074	38	1		1	RYR1	19	38976617	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	19718103	38976617	20152366	214	20860											
MAP4K1	11184	broad.mit.edu	37	chr19	39100273	39100273	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatccccagagagctggaGcggtgggtggatctgatccg	7	7	18	9	2	1	2	0	1	1	1	3	6	3	5	3	5	2	1	3	5	0	0			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:39100273G>C	ENST00000591517.1	-	13	997	c.969C>G	c.(967-969)cgC>cgG	p.R323R	MAP4K1_ENST00000586296.1_Silent_p.R323R|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Silent_p.R323R|MAP4K1_ENST00000589130.1_Silent_p.R319R	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	323					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGAGCTGGAGCGGTGGGTGG	0.592													8	29					0	0	0	0	C	39100273	G	C	39100273	2	2	108	1	0	0	0	0	0	0	0	1	9328	958	34	4		4	MAP4K1	19	39100273	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	123656	39100273	20028710	215	20861											
SPTBN4	57731	broad.mit.edu	37	chr19	41062929	41062929	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccccacttcctgatggcagGtgctgcaggagaaattctca	9	9	10	13	0	1	2	1	1	1	1	3	3	2	2	3	3	2	3	3	3	1	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:41062929G>T	ENST00000352632.3	+	26	5376	c.5289_splice	c.e26-1	p.V1764_splice	SPTBN4_ENST00000392023.1_Splice_Site_p.V440_splice|SPTBN4_ENST00000598249.1_Splice_Site_p.V1764_splice|SPTBN4_ENST00000595535.1_Splice_Site_p.V1764_splice|SPTBN4_ENST00000392025.1_Splice_Site_p.V507_splice|SPTBN4_ENST00000338932.3_Splice_Site_p.V1764_splice			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1764					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGATGGCAGGTGCTGCAGGA	0.547													8	31					1.12685e-05	1.26013e-05	1	0	T	41062929	G	T	41062929	5	4	108	1	0	0	0	0	0	0	1	0	15211	1275	44	4	5388	4	SPTBN4	19	41062929	Splice_Site	SNP	G	TCGA-CN-6995-01A-31D-2012-08	1962656	41062929	18066054	216	20862											
ZNF230	7773	broad.mit.edu	37	chr19	44515025	44515025	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataattcatactggggagaaGccgttcaaatgtgaaatatg	15	11	10	5	1	2	2	2	1	0	1	2	3	2	2	1	2	2	1	1	2	6	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:44515025G>A	ENST00000429154.2	+	5	1062	c.834G>A	c.(832-834)aaG>aaA	p.K278K		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CTGGGGAGAAGCCGTTCAAAT	0.423													21	94					0	0	0	0	A	44515025	G	A	44515025	2	1	108	1	0	0	0	0	0	0	0	1	17879	962	34	4		4	ZNF230	19	44515025	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	3452096	44515025	14613958	217	20863											
PNMAL1	55228	broad.mit.edu	37	chr19	46973549	46973549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgcttcctgcctggagttCttcttctgcttctttctcct	2	19	6	14	0	5	0	0	0	5	0	7	1	6	1	3	1	3	3	3	1	0	6			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:46973549C>T	ENST00000313683.10	-	2	1049	c.744G>A	c.(742-744)aaG>aaA	p.K248K	PNMAL1_ENST00000438932.2_Silent_p.K248K|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	248										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCCTGGAGTTCTTCTTCTGCT	0.522													20	142					0	0	0	0	T	46973549	C	T	46973549	2	4	108	1	0	0	0	0	0	0	0	1	12229	912	32	2		2	PNMAL1	19	46973549	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	2458524	46973549	12155434	218	20864											
GLTSCR1	29998	broad.mit.edu	37	chr19	48202269	48202269	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagctgctgaaacgcaccCaggccatgctcaataaatat	13	7	8	13	2	1	1	1	1	0	0	1	1	1	1	2	1	4	5	2	1	5	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:48202269C>T	ENST00000396720.3	+	13	3639	c.3445C>T	c.(3445-3447)Cag>Tag	p.Q1149*	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1149							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GAAACGCACCCAGGCCATGCT	0.632											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	7					0	0	0	0	T	48202269	C	T	48202269	4	4	108	1	0	0	0	0	0	1	0	0	6525	595	21	4	3487	4	GLTSCR1	19	48202269	Nonsense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	1228720	48202269	10926714	219	20865											
PLA2G4C	8605	broad.mit.edu	37	chr19	48601480	48601480	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtagtgtcccttcttccaCgggcttcttcatattggaca	6	14	10	11	1	3	0	1	0	2	0	5	1	5	1	2	3	0	2	2	3	2	7			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:48601480C>A	ENST00000354276.3	-	6	811	c.484G>T	c.(484-486)Gtg>Ttg	p.V162L	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.V162L|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.V172L|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.V162L	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	162	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCTTCTTCCACGGGCTTCTTC	0.527													27	82					1.75199e-13	2.25876e-13	1	0	A	48601480	C	A	48601480	3	1	108	1	0	0	0	0	1	0	0	0	12075	536	19	3	1193	3	PLA2G4C	19	48601480	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	399211	48601480	10527503	220	20866											
PRR12	57479	broad.mit.edu	37	chr19	50098459	50098459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacgccaggacacggtcatCaagcactaccagcggccagc	11	3	10	17	3	2	0	2	0	0	0	2	1	2	1	4	3	4	1	4	3	2	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:50098459C>T	ENST00000418929.2	+	4	879	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	19	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)		ACACGGTCATCAAGCACTACC	0.697													5	12					0	0	0	0	T	50098459	C	T	50098459	2	4	108	1	0	0	0	0	0	0	0	1	12664	816	29	2		2	PRR12	19	50098459	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	1496979	50098459	9030524	221	20867											
ZNF665	79788	broad.mit.edu	37	chr19	53668172	53668172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttaggcttgaatgaacaCtaaaggctttgccacactca	13	11	8	9	0	1	2	1	2	0	0	1	2	1	2	1	2	2	3	1	2	6	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:53668172C>A	ENST00000600412.1	-	2	1491	c.1376G>T	c.(1375-1377)aGt>aTt	p.S459I	ZNF665_ENST00000396424.3_Missense_Mutation_p.S524I			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATGAACACTAAAGGCTTT	0.393													47	121					1.6237e-14	2.11964e-14	1	0	A	53668172	C	A	53668172	3	1	108	1	0	0	0	0	1	0	0	0	18168	565	20	4	469	4	ZNF665	19	53668172	Missense_Mutation	SNP	C	TCGA-CN-6995-01A-31D-2012-08	3569713	53668172	5460811	222	20868											
MBOAT7	79143	broad.mit.edu	37	chr19	54677883	54677883	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagtagatggaggcccagTaccgaagggtgtcggccaag	12	5	16	8	2	0	2	0	0	0	2	1	4	0	3	3	4	1	2	3	4	5	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr19:54677883T>G	ENST00000245615.1	-	8	1754	c.1274A>C	c.(1273-1275)tAc>tCc	p.Y425S	MBOAT7_ENST00000338624.6_Missense_Mutation_p.Y352S|MBOAT7_ENST00000431666.2_Missense_Mutation_p.Y352S	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	425					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGAGGCCCAGTACCGAAGGGT	0.637													18	103					0	0	0	0	G	54677883	T	G	54677883	3	3	108	1	0	0	0	0	1	0	0	0	9427	1638	57	5	148	5	MBOAT7	19	54677883	Missense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	1009711	54677883	4451100	223	20869											
PLCB1	23236	broad.mit.edu	37	chr20	8741079	8741079	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaggcacctgccaaaacAgaagatcttattcagagtgt	15	9	9	8	0	2	3	1	0	1	3	2	3	2	3	2	1	2	2	2	1	6	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr20:8741079A>G	ENST00000378641.3	+	25	3157	c.2682A>G	c.(2680-2682)acA>acG	p.T894T	PLCB1_ENST00000378637.2_Silent_p.T894T|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Silent_p.T894T	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	894					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGCCAAAACAGAAGATCTTA	0.358													5	14					0	0	0	0	G	8741079	A	G	8741079	2	3	108	1	0	0	0	0	0	0	0	1	12099	175	7	5		5	PLCB1	20	8741079	Silent	SNP	A	TCGA-CN-6995-01A-31D-2012-08		8741079	54284441	224	20870											
CHD6	84181	broad.mit.edu	37	chr20	40033381	40033381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgggagcaggctctgggtggGagttggggttgtcccccttt	3	12	18	8	0	1	0	0	0	1	0	2	2	2	2	2	6	1	4	2	6	0	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr20:40033381G>A	ENST00000373233.3	-	37	8177	c.8000C>T	c.(7999-8001)tCc>tTc	p.S2667F	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2667					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCTGGGTGGGAGTTGGGGTT	0.587													35	101					0	0	0	0	A	40033381	G	A	40033381	3	1	108	1	0	0	0	0	1	0	0	0	3358	1174	41	2	151	2	CHD6	20	40033381	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	31292302	40033381	22992139	225	20871											
PTPN1	5770	broad.mit.edu	37	chr20	49195149	49195149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaaccttctgtctggctGatacctgcctcttgctggta	5	14	10	12	0	3	1	0	1	3	0	3	2	3	2	3	3	4	3	3	3	3	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr20:49195149G>A	ENST00000371621.3	+	6	859	c.685G>A	c.(685-687)Gat>Aat	p.D229N	PTPN1_ENST00000541713.1_Missense_Mutation_p.D156N	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	229	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	CTGTCTGGCTGATACCTGCCT	0.587													7	44					0	0	0	0	A	49195149	G	A	49195149	3	1	108	1	0	0	0	0	1	0	0	0	12859	1290	45	2	707	2	PTPN1	20	49195149	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	9161768	49195149	13830371	226	20872											
CASS4	57091	broad.mit.edu	37	chr20	55026880	55026880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggttctcccacaggggcaGggtgttcccctgatatcagt	6	11	13	11	0	2	1	1	1	1	0	4	1	3	1	3	4	0	3	3	4	1	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr20:55026880G>T	ENST00000371336.3	+	5	849	c.648G>T	c.(646-648)caG>caT	p.Q216H	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.Q216H	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	216					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CACAGGGGCAGGGTGTTCCCC	0.502													18	48					1.00905e-13	1.30632e-13	1	0	T	55026880	G	T	55026880	3	4	108	1	0	0	0	0	1	0	0	0	2708	991	35	4	666	4	CASS4	20	55026880	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	5831731	55026880	7998640	227	20873											
SAMSN1	64092	broad.mit.edu	37	chr21	15870786	15870786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcttcaaggaagttttcaGcagctgatagtaaccttctt	10	15	7	9	0	4	1	2	1	2	0	4	2	4	2	1	1	3	4	1	1	4	8			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr21:15870786G>A	ENST00000285670.2	-	8	1274	c.1100C>T	c.(1099-1101)gCt>gTt	p.A367V	SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.A131V|SAMSN1_ENST00000400566.1_Missense_Mutation_p.A299V	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	299					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAAGTTTTCAGCAGCTGATAG	0.338													12	33					0	0	0	0	A	15870786	G	A	15870786	3	1	108	1	0	0	0	0	1	0	0	0	13915	971	34	4	233	4	SAMSN1	21	15870786	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08		15870786	32259109	228	20874											
C21orf91	54149	broad.mit.edu	37	chr21	19165780	19165781	+	Frame_Shift_Ins	INS	-	-	A																															ttcctgttcgccctacttgcINSagacatggtaacttagaaca																										TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr21:19165780_19165781insA	ENST00000284881.4	-	5	935_936	c.845_846insT	c.(844-846)ccafs	p.P282fs	C21orf91_ENST00000400559.3_Frame_Shift_Ins_p.P281fs|C21orf91_ENST00000400558.3_3'UTR	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	282										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		GCCCTACTTGCAGACATGGTAA	0.475													8	22	---	---	---	---					A	19165781	-	A	19165780	7	5	108	1	0	1	1	0	0	0	0	0	2154	697	25	0	51	0	C21orf91	21	19165780	Frame_Shift_Ins	INS	-	TCGA-CN-6995-01A-31D-2012-08	3294994	19165780	28964115	229	20875											
TIAM1	7074	broad.mit.edu	37	chr21	32582412	32582412	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcgcctggccggacgacCgtcagggcaggctgattatt	6	9	15	11	4	1	1	1	1	0	0	2	3	1	2	3	4	0	2	3	4	1	2	rs28520154		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr21:32582412C>G	ENST00000286827.3	-	12	2808	c.2337G>C	c.(2335-2337)acG>acC	p.T779T	TIAM1_ENST00000541036.1_Silent_p.T754T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	779	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCGGACGACCGTCAGGGCAG	0.547													12	40					0	0	0	0	G	32582412	C	G	32582412	2	3	108	1	0	0	0	0	0	0	0	1	15984	639	23	3		3	TIAM1	21	32582412	Silent	SNP	C	TCGA-CN-6995-01A-31D-2012-08	13416632	32582412	15547483	230	20876											
TIAM1	7074	broad.mit.edu	37	chr21	32638554	32638554	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctccccggccccccgttTgctgtcactccagagttttt	3	14	8	16	2	1	1	1	0	0	1	3	1	3	1	6	1	2	4	6	1	0	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr21:32638554T>G	ENST00000286827.3	-	5	1206	c.735A>C	c.(733-735)gcA>gcC	p.A245A	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.A245A	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	245					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCCCCCGTTTGCTGTCACTC	0.547													25	80					0	0	0	0	G	32638554	T	G	32638554	2	3	108	1	0	0	0	0	0	0	0	1	15984	1799	63	5		5	TIAM1	21	32638554	Silent	SNP	T	TCGA-CN-6995-01A-31D-2012-08	56142	32638554	15491341	231	20877											
GNAZ	2781	broad.mit.edu	37	chr22	23438557	23438557	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagccatcatcttctgTgtggagctcagcggctacga	8	10	11	12	2	5	0	3	0	2	0	5	2	5	1	1	2	4	2	1	2	1	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr22:23438557T>C	ENST00000248996.4	+	2	1341	c.675T>C	c.(673-675)tgT>tgC	p.C225C	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	225						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TCATCTTCTGTGTGGAGCTCA	0.567													44	205					0	0	0	0	C	23438557	T	C	23438557	2	2	108	1	0	0	0	0	0	0	0	1	6565	1702	59	5		5	GNAZ	22	23438557	Silent	SNP	T	TCGA-CN-6995-01A-31D-2012-08		23438557	27866009	232	20878											
SEC14L4	284904	broad.mit.edu	37	chr22	30887558	30887558	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtaaaccccgcagctcttAcagacgccagcctggaggca	11	5	10	15	2	1	1	0	0	1	1	1	2	1	2	4	2	4	4	4	2	3	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chr22:30887558A>G	ENST00000392772.2	-	11	1197		c.e11+1		SEC14L4_ENST00000255858.7_Splice_Site|SEC14L4_ENST00000540456.1_Splice_Site|SEC14L4_ENST00000381982.3_Splice_Site			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)							integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CGCAGCTCTTACAGACGCCAG	0.602													11	62					0	0	0	0	G	30887558	A	G	30887558	5	3	108	1	0	0	0	0	0	0	1	0	14071	405	14	5	151	5	SEC14L4	22	30887558	Splice_Site	SNP	A	TCGA-CN-6995-01A-31D-2012-08	7449001	30887558	20417008	233	20879											
FAM9A	171482	broad.mit.edu	37	chrX	8764319	8764320	+	Frame_Shift_Ins	INS	-	-	T																															caatcatacctttttagttgINStttttttttcaaagcacgtt																								rs1985393		TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:8764319_8764320insT	ENST00000543214.1	-	6	612_613	c.477_478insA	c.(475-480)aaaactfs	p.T160fs	FAM9A_ENST00000381003.3_Frame_Shift_Ins_p.T160fs	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	160						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTTTTTAGTTGTTTTTTTTTCA	0.292													5	2	---	---	---	---					T	8764320	-	T	8764319	7	5	108	1	0	1	1	0	0	0	0	0	5704	1386	48	0	536	0	FAM9A	23	8764319	Frame_Shift_Ins	INS	-	TCGA-CN-6995-01A-31D-2012-08		8764319	146506241	234	20880											
GLRA2	2742	broad.mit.edu	37	chrX	14708939	14708939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtctccaggcaacacaaGgagttcctgcgcctccgaag	9	8	10	14	3	1	0	0	0	1	0	5	2	3	1	4	2	2	2	4	2	3	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:14708939G>A	ENST00000218075.4	+	8	1568	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	GLRA2_ENST00000443437.2_Silent_p.K257K|GLRA2_ENST00000355020.4_Silent_p.K346K	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	346					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GGCAACACAAGGAGTTCCTGC	0.488													21	19					0	0	0	0	A	14708939	G	A	14708939	2	1	108	1	0	0	0	0	0	0	0	1	6506	991	35	4		4	GLRA2	23	14708939	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	5944620	14708939	140561621	235	20881											
APOO	79135	broad.mit.edu	37	chrX	23897090	23897091	+	Frame_Shift_Ins	INS	-	-	GCTGGCTC																															ctgtgagatgctttcttcaaINSgctggctccttgcctcctcc																										TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:23897090_23897091insGCTGGCTC	ENST00000379226.4	-	3	409_410	c.178_179insGAGCCAGC	c.(178-180)tgafs	p.*60fs	APOO_ENST00000379220.3_Frame_Shift_Ins_p.*60fs	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	60					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GCTTTCTTCAAGCTGGCTCCTT	0.441													14	38	---	---	---	---					GCTGGCTC	23897091	-	GCTGGCTC	23897090	7	5	108	1	0	1	1	0	0	0	0	0	815	72	3	0	441	0	APOO	23	23897090	Frame_Shift_Ins	INS	-	TCGA-CN-6995-01A-31D-2012-08	9188151	23897090	131373470	236	20882											
ZXDA	7789	broad.mit.edu	37	chrX	57934507	57934507	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagatttctttctttctgaGaaccatggtttcctgctgca	8	17	7	9	0	3	2	0	1	3	2	4	3	4	2	2	1	3	3	2	1	2	5			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:57934507G>C	ENST00000358697.4	-	1	2560	c.2348C>G	c.(2347-2349)tCt>tGt	p.S783C		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	783					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TTCTTTCTGAGAACCATGGTT	0.448													25	16					0	0	0	0	C	57934507	G	C	57934507	3	2	108	1	0	0	0	0	1	0	0	0	18341	942	33	2	55	2	ZXDA	23	57934507	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	34037417	57934507	97336053	237	20883											
TAF1	6872	broad.mit.edu	37	chrX	70612767	70612767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagaagacagtgacaggaAcagatgcagaccttcgtcgc	14	6	12	9	2	0	6	0	2	0	4	2	7	0	7	1	1	2	1	1	1	3	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:70612767A>G	ENST00000449580.1	+	20	3022	c.2971A>G	c.(2971-2973)Aca>Gca	p.T991A	TAF1_ENST00000423759.1_Missense_Mutation_p.T1012A|TAF1_ENST00000373790.4_Missense_Mutation_p.T991A|TAF1_ENST00000276072.3_Missense_Mutation_p.T1012A			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	991					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGTGACAGGAACAGATGCAGA	0.428													52	31					0	0	0	0	G	70612767	A	G	70612767	3	3	108	1	0	0	0	0	1	0	0	0	15604	43	2	5	3112	5	TAF1	23	70612767	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	12678260	70612767	84657793	238	20884											
KIAA2022	340533	broad.mit.edu	37	chrX	73962848	73962848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcatcatcttcctctttgGaaccaactggcagccattcc	9	12	5	15	0	4	0	2	0	2	0	6	1	6	1	4	2	3	1	4	2	2	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:73962848G>T	ENST00000373468.1	-	3	2195	c.1544C>A	c.(1543-1545)tCc>tAc	p.S515Y	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S515Y			Q5QGS0	K2022_HUMAN	KIAA2022	515					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTCCTCTTTGGAACCAACTGG	0.388													5	7					3.59834e-05	3.96707e-05	1	0	T	73962848	G	T	73962848	3	4	108	1	0	0	0	0	1	0	0	0	8320	1174	41	2	3014	2	KIAA2022	23	73962848	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	3350081	73962848	81307712	239	20885											
DACH2	117154	broad.mit.edu	37	chrX	85969652	85969652	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagatgaaccatctcaatActattgccaacatggctgct	13	11	6	11	0	2	2	2	1	1	1	3	2	2	2	2	1	5	2	2	1	5	3			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:85969652A>G	ENST00000373131.1	+	5	1157	c.994A>G	c.(994-996)Act>Gct	p.T332A	DACH2_ENST00000373125.4_Missense_Mutation_p.T345A|DACH2_ENST00000508860.1_Missense_Mutation_p.T178A|DACH2_ENST00000510272.1_Missense_Mutation_p.T126A	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCATCTCAATACTATTGCCAA	0.448													18	21					0	0	0	0	G	85969652	A	G	85969652	3	3	108	1	0	0	0	0	1	0	0	0	4254	391	14	5	1055	5	DACH2	23	85969652	Missense_Mutation	SNP	A	TCGA-CN-6995-01A-31D-2012-08	12006804	85969652	69300908	240	20886											
NRK	203447	broad.mit.edu	37	chrX	105178437	105178437	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactttgccagtgccatctGtgagtgtgttcaatgtaatc	9	15	9	8	0	2	1	1	1	1	0	3	1	2	1	2	0	3	2	2	0	3	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:105178437G>T	ENST00000428173.2	+	20	3805		c.e20+1		NRK_ENST00000243300.9_Splice_Site			Q7Z2Y5	NRK_HUMAN	Nik related kinase								ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGTGCCATCTGTGAGTGTGTT	0.368										HNSCC(51;0.14)			29	20					2.85442e-18	3.80589e-18	1	0	T	105178437	G	T	105178437	5	4	108	1	0	0	0	0	0	0	1	0	10726	1391	48	4	3578	4	NRK	23	105178437	Splice_Site	SNP	G	TCGA-CN-6995-01A-31D-2012-08	19208785	105178437	50092123	241	20887											
GLUD2	2747	broad.mit.edu	37	chrX	120181945	120181945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcatcgaaggctaccGggcccagcacagccagcacc	10	3	13	15	2	1	0	1	0	0	0	2	2	1	1	4	4	4	3	4	4	2	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:120181945G>A	ENST00000328078.1	+	1	484	c.407G>A	c.(406-408)cGg>cAg	p.R136Q		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	136					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GAAGGCTACCGGGCCCAGCAC	0.592													26	10					0	0	0	0	A	120181945	G	A	120181945	3	1	108	1	0	0	0	0	1	0	0	0	6528	1116	39	1	409	1	GLUD2	23	120181945	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	15003508	120181945	35088615	242	20888											
IDS	3423	broad.mit.edu	37	chrX	148585743	148585743	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccagttggtcaatatttgGggacctcaccagcttatccc	8	12	9	12	0	2	0	2	0	0	0	3	1	3	1	4	3	2	2	4	3	3	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:148585743G>C	ENST00000340855.6	-	2	393	c.184C>G	c.(184-186)Cca>Gca	p.P62A	IDS_ENST00000428056.2_Missense_Mutation_p.P62A|IDS_ENST00000370441.4_Missense_Mutation_p.P62A|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_Intron|IDS_ENST00000370443.4_Missense_Mutation_p.P62A	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	62						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCAATATTTGGGGACCTCACC	0.562													4	9					0	0	0	0	C	148585743	G	C	148585743	3	2	108	1	0	0	0	0	1	0	0	0	7556	1232	43	4	1530	4	IDS	23	148585743	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	28403798	148585743	6684817	243	20889											
GABRQ	55879	broad.mit.edu	37	chrX	151806746	151806746	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactaccccagtcccatcccGaaattccacttcgagttctc	10	10	4	17	2	1	0	0	0	1	0	6	2	4	0	5	0	2	1	5	0	3	4			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:151806746G>A	ENST00000370306.2	+	1	110	c.90G>A	c.(88-90)ccG>ccA	p.P30P		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	30						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCCATCCCGAAATTCCACT	0.642													14	18					0	0	0	0	A	151806746	G	A	151806746	2	1	108	1	0	0	0	0	0	0	0	1	6223	1045	37	1		1	GABRQ	23	151806746	Silent	SNP	G	TCGA-CN-6995-01A-31D-2012-08	3221003	151806746	3463814	244	20890											
PNMA3	29944	broad.mit.edu	37	chrX	152226119	152226119	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagtgcctggctgcctTgcagcaggtgttcggacctg	5	9	17	10	1	0	0	0	0	0	0	1	3	0	3	3	5	4	4	3	5	0	2			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:152226119T>A	ENST00000447306.1	+	2	1043	c.707T>A	c.(706-708)tTg>tAg	p.L236*	PNMA3_ENST00000370265.4_Nonsense_Mutation_p.L236*|PNMA3_ENST00000370264.4_Nonsense_Mutation_p.L236*	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	236					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ctggctgccttgcagcaggtg	0.552													52	48					0	0	0	0	A	152226119	T	A	152226119	4	1	108	1	0	0	0	0	0	1	0	0	12227	1821	63	5	709	5	PNMA3	23	152226119	Nonsense_Mutation	SNP	T	TCGA-CN-6995-01A-31D-2012-08	419373	152226119	3044441	245	20891											
IL9R	3581	broad.mit.edu	37	chrX	155233507	155233507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggacccggagtacctGccccggagacacggtgagca	8	5	15	13	3	0	2	0	1	0	1	0	5	0	4	4	5	3	2	4	5	1	1			TCGA-CN-6995-01A-31D-2012-08	TCGA-CN-6995-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0b6813d-4b3e-479e-81a7-1e5c2de89b0d	a4fef570-a560-4482-b7da-8bbe800c4b03	g.chrX:155233507G>T	ENST00000540897.1	+	5	592	c.524G>T	c.(523-525)tGc>tTc	p.C175F	IL9R_ENST00000424344.3_Silent_p.L119L|IL9R_ENST00000244174.5_Silent_p.L140L|IL9R_ENST00000369423.2_Missense_Mutation_p.C185F	NM_176786.1	NP_789743.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	149	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGAGTACCTGCCCCGGAGAC	0.622													13	24					1.05317e-09	1.28858e-09	1	0	T	155233507	G	T	155233507	3	4	108	1	0	0	0	0	1	0	0	0	7761	1306	46	4	434	4	IL9R	23	155233507	Missense_Mutation	SNP	G	TCGA-CN-6995-01A-31D-2012-08	3007388	155233507	37053	246	20892											
AHDC1	27245	broad.mit.edu	37	chr1	27874932	27874932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcttccgccgtccacggCccggcttggagctactctga	4	10	10	17	4	2	1	0	1	2	0	4	2	4	2	5	3	2	2	5	3	1	4			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr1:27874932C>T	ENST00000374011.2	-	6	4663	c.3695G>A	c.(3694-3696)gGc>gAc	p.G1232D	AHDC1_ENST00000247087.5_Missense_Mutation_p.G1232D|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1232							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCGTCCACGGCCCGGCTTGGA	0.607													8	25					0	0	0	0	T	27874932	C	T	27874932	3	4	109	1	0	0	0	0	1	0	0	0	412	739	26	4	1120	4	AHDC1	1	27874932	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08		27874932	221375689	1	20893											
FUBP1	8880	broad.mit.edu	37	chr1	78433858	78433858	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatacttacagtcattttGaggagcaactttcttagcat	12	14	8	7	0	2	1	1	1	1	0	2	3	2	3	0	2	5	2	0	2	5	6			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr1:78433858G>A	ENST00000370767.1	-	3	328	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Q102*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Q81*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	81					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CAGTCATTTTGAGGAGCAACT	0.313			"F, N"		oligodendroglioma								6	28					0	0	0	0	A	78433858	G	A	78433858	4	1	109	1	0	0	0	0	0	1	0	0	6140	1299	45	2	1765	2	FUBP1	1	78433858	Nonsense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08	50558926	78433858	170816763	2	20894											
PTGS2	5743	broad.mit.edu	37	chr1	186648488	186648488	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctccatagaatcctgtccgGgtacaatcgcacttatactg	10	12	7	12	2	1	1	0	0	1	1	5	1	3	1	3	1	2	2	3	1	6	4			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr1:186648488G>A	ENST00000367468.5	-	2	271	c.135C>T	c.(133-135)acC>acT	p.T45T	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	45	EGF-like.				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	ATCCTGTCCGGGTACAATCGC	0.443													19	30					0	0	0	0	A	186648488	G	A	186648488	2	1	109	1	0	0	0	0	0	0	0	1	12836	1219	43	4		4	PTGS2	1	186648488	Silent	SNP	G	TCGA-CN-6996-01A-11D-1912-08	108214630	186648488	62602133	3	20895											
RBM34	23029	broad.mit.edu	37	chr1	235324259	235324259	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggggctccagagaactgaaGagggacgccagccgaccggt	10	4	16	11	3	0	3	0	1	0	2	1	6	1	4	4	4	2	1	4	4	2	0			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr1:235324259G>C	ENST00000408888.3	-	2	407	c.177C>G	c.(175-177)ctC>ctG	p.L59L	RBM34_ENST00000366606.3_Silent_p.L54L			P42696	RBM34_HUMAN	RNA binding motif protein 34	59						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GAGAACTGAAGAGGGACGCCA	0.567													9	45					0	0	0	0	C	235324259	G	C	235324259	2	2	109	1	0	0	0	0	0	0	0	1	13213	929	33	2		2	RBM34	1	235324259	Silent	SNP	G	TCGA-CN-6996-01A-11D-1912-08	48675771	235324259	13926362	4	20896											
KCNF1	3754	broad.mit.edu	37	chr2	11053827	11053827	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaccgcggccaagcaCgagctggagctgatggaact	10	5	15	11	3	0	2	0	1	0	1	0	6	0	4	2	4	4	3	2	4	2	0			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:11053827C>T	ENST00000295082.1	+	1	1765	c.1275C>T	c.(1273-1275)caC>caT	p.H425H		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	425						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CGGCCAAGCACGAGCTGGAGC	0.632													6	28					0	0	0	0	T	11053827	C	T	11053827	2	4	109	1	0	0	0	0	0	0	0	1	8079	535	19	1		1	KCNF1	2	11053827	Silent	SNP	C	TCGA-CN-6996-01A-11D-1912-08		11053827	232145546	5	20897											
FNDC4	64838	broad.mit.edu	37	chr2	27715571	27715571	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttccctgaggactctgttCcggcccctttcccttctcct	2	14	6	19	1	2	1	0	1	2	0	6	2	5	2	7	2	0	1	7	2	0	4			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:27715571C>A	ENST00000264703.3	-	6	1022	c.631G>T	c.(631-633)Gaa>Taa	p.E211*		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	211						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGACTCTGTTCCGGCCCCTTT	0.552													21	61					1.55795e-14	2.16849e-14	1	0	A	27715571	C	A	27715571	4	1	109	1	0	0	0	0	0	1	0	0	6016	864	30	2	81	2	FNDC4	2	27715571	Nonsense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08	16661744	27715571	215483802	6	20898											
RTKN	6242	broad.mit.edu	37	chr2	74653510	74653510	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagcatccagggaaaaggTtcggggtctcccccagggca	10	5	14	12	1	1	0	0	0	1	0	4	2	2	1	3	5	1	3	3	5	2	1			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:74653510T>C	ENST00000305557.5	-	13	2098	c.1513A>G	c.(1513-1515)Acc>Gcc	p.T505A	RTKN_ENST00000233330.6_Missense_Mutation_p.T468A|RTKN_ENST00000272430.5_Missense_Mutation_p.T518A	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	518	Pro-rich.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						AGGGAAAAGGTTCGGGGTCTC	0.677													23	80					0	0	0	0	C	74653510	T	C	74653510	3	2	109	1	0	0	0	0	1	0	0	0	13807	1725	60	5	143	5	RTKN	2	74653510	Missense_Mutation	SNP	T	TCGA-CN-6996-01A-11D-1912-08	46937939	74653510	168545863	7	20899											
RTKN	6242	broad.mit.edu	37	chr2	74654585	74654585	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctgccacagagcctccatCcagctctgcagtgcttcccg	7	8	9	17	1	1	1	0	0	1	1	4	1	4	1	5	0	6	4	5	0	0	1			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:74654585C>T	ENST00000305557.5	-	11	1767	c.1182G>A	c.(1180-1182)tgG>tgA	p.W394*	RTKN_ENST00000233330.6_Nonsense_Mutation_p.W357*|RTKN_ENST00000272430.5_Nonsense_Mutation_p.W407*	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	407	PH.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCCTCCATCCAGCTCTGCA	0.502													60	198					0	0	0	0	T	74654585	C	T	74654585	4	4	109	1	0	0	0	0	0	1	0	0	13807	856	30	2	482	2	RTKN	2	74654585	Nonsense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08	1075	74654585	168544788	8	20900											
TMEM87B	84910	broad.mit.edu	37	chr2	112821764	112821764	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattccattgttctgggccTgtgaagtttaccatagtgtg	7	16	10	8	0	2	1	1	1	1	0	3	1	3	1	3	1	1	2	3	1	3	6			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:112821764T>C	ENST00000283206.4	+	3	621	c.252T>C	c.(250-252)ccT>ccC	p.P84P		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	84						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GTTCTGGGCCTGTGAAGTTTA	0.308													3	144					0	0	0	0	C	112821764	T	C	112821764	2	2	109	1	0	0	0	0	0	0	0	1	16305	1567	55	5		5	TMEM87B	2	112821764	Silent	SNP	T	TCGA-CN-6996-01A-11D-1912-08	38167179	112821764	130377609	9	20901											
LRP1B	53353	broad.mit.edu	37	chr2	141474362	141474362	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattttattgaagcccatgtCtgtccagtagatggtatcat	11	15	8	7	0	2	2	1	1	1	1	3	2	3	2	2	1	1	2	2	1	5	5			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:141474362C>G	ENST00000389484.3	-	36	6753	c.5782G>C	c.(5782-5784)Gac>Cac	p.D1928H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1928					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGCCCATGTCTGTCCAGTAG	0.363										TSP Lung(27;0.18)			3	77					0	0	0	0	G	141474362	C	G	141474362	3	3	109	1	0	0	0	0	1	0	0	0	9019	913	32	2	8241	2	LRP1B	2	141474362	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08	28652598	141474362	101725011	10	20902											
GALNT5	11227	broad.mit.edu	37	chr2	158140861	158140861	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtgctttgtggatgaaGtgtggtccactctcctgaga	7	14	12	8	0	2	2	1	2	1	1	4	4	3	3	2	2	1	1	2	2	1	1			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:158140861G>C	ENST00000259056.4	+	2	2007	c.1522G>C	c.(1522-1524)Gtg>Ctg	p.V508L		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	508	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TGTGGATGAAGTGTGGTCCAC	0.488													21	59					0	0	0	0	C	158140861	G	C	158140861	3	2	109	1	0	0	0	0	1	0	0	0	6265	1029	36	4	1528	4	GALNT5	2	158140861	Missense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08	16666499	158140861	85058512	11	20903											
SCN3A	6328	broad.mit.edu	37	chr2	165987855	165987855	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaaagatattccagccttCttggaaatagtaataaggat	16	12	7	6	0	2	1	1	0	1	1	3	3	3	3	2	2	1	1	2	2	6	7			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:165987855C>G	ENST00000360093.3	-	16	2955	c.2464G>C	c.(2464-2466)Gaa>Caa	p.E822Q	SCN3A_ENST00000283254.7_Missense_Mutation_p.E822Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.E773Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	822						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTCCAGCCTTCTTGGAAATAG	0.393													13	76					0	0	0	0	G	165987855	C	G	165987855	3	3	109	1	0	0	0	0	1	0	0	0	14005	922	32	2	3590	2	SCN3A	2	165987855	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08	7846994	165987855	77211518	12	20904											
DNAH7	56171	broad.mit.edu	37	chr2	196664030	196664030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtaaggtacctggtcatcaGcaaattttagaagggcagcc	12	10	11	8	0	2	1	2	0	0	1	2	1	2	1	2	3	3	4	2	3	5	4			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:196664030G>A	ENST00000312428.6	-	55	10443	c.10343C>T	c.(10342-10344)gCt>gTt	p.A3448V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3448	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGGTCATCAGCAAATTTTAG	0.388													4	135					0	0	0	0	A	196664030	G	A	196664030	3	1	109	1	0	0	0	0	1	0	0	0	4642	971	34	4	1775	4	DNAH7	2	196664030	Missense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08	30676175	196664030	46535343	13	20905											
BMPR2	659	broad.mit.edu	37	chr2	203332371	203332371	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagatttatgtaatgtcaActttactgagaattttccac	13	15	5	8	0	1	2	1	1	0	2	2	3	2	2	1	0	2	1	1	0	5	7			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:203332371A>G	ENST00000374580.4	+	3	916	c.377A>G	c.(376-378)aAc>aGc	p.N126S	BMPR2_ENST00000479069.1_3'UTR|BMPR2_ENST00000374574.2_Missense_Mutation_p.N126S	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	126					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TGTAATGTCAACTTTACTGAG	0.368													14	32					0	0	0	0	G	203332371	A	G	203332371	3	3	109	1	0	0	0	0	1	0	0	0	1476	43	2	5	387	5	BMPR2	2	203332371	Missense_Mutation	SNP	A	TCGA-CN-6996-01A-11D-1912-08	6668341	203332371	39867002	14	20906											
EPHA4	2043	broad.mit.edu	37	chr2	222321461	222321461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttcctggcagctgtcCgaactatacgatagcttcgc	7	12	10	12	3	0	0	0	0	0	0	3	2	2	0	2	1	4	4	2	1	4	5			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:222321461C>T	ENST00000281821.2	-	7	1516	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	EPHA4_ENST00000409938.1_Missense_Mutation_p.R492Q|EPHA4_ENST00000392071.4_Missense_Mutation_p.R441Q|EPHA4_ENST00000409854.1_Missense_Mutation_p.R492Q	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	492	Fibronectin type-III 2.					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)		GGCAGCTGTCCGAACTATACG	0.468													14	65					0	0	0	0	T	222321461	C	T	222321461	3	4	109	1	0	0	0	0	1	0	0	0	5207	652	23	1	1529	1	EPHA4	2	222321461	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08	18989090	222321461	20877912	15	20907											
HGD	3081	broad.mit.edu	37	chr3	120394679	120394679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggcagcgaggatcctctGaagaacactcattcccaaat	12	8	9	12	1	2	2	1	1	1	1	4	4	4	3	2	2	2	1	2	2	3	1			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr3:120394679G>A	ENST00000283871.5	-	2	506	c.47C>T	c.(46-48)tCa>tTa	p.S16L	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	16					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGGATCCTCTGAAGAACACTC	0.438													23	76					0	0	0	0	A	120394679	G	A	120394679	3	1	109	1	0	0	0	0	1	0	0	0	7134	1294	45	2	1342	2	HGD	3	120394679	Missense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08		120394679	77627751	16	20908											
PIK3CB	5291	broad.mit.edu	37	chr3	138383967	138383967	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgttcagctgaatgtcAgcaattgtttcagaggtgct	9	14	10	8	0	3	2	3	1	0	1	3	2	3	2	0	1	4	5	0	1	3	4			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr3:138383967A>C	ENST00000477593.1	-	19	2656	c.2583T>G	c.(2581-2583)gcT>gcG	p.A861A	PIK3CB_ENST00000544716.1_Silent_p.A312A|PIK3CB_ENST00000289153.2_Silent_p.A861A			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	861	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCTGAATGTCAGCAATTGTTT	0.448													10	35					0	0	0	0	C	138383967	A	C	138383967	2	2	109	1	0	0	0	0	0	0	0	1	11986	175	7	5		5	PIK3CB	3	138383967	Silent	SNP	A	TCGA-CN-6996-01A-11D-1912-08	17989288	138383967	59638463	17	20909											
FXR1	8087	broad.mit.edu	37	chr3	180693130	180693130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagattatatttctagagctGagtctcagagcagacaaaga	15	10	9	7	0	2	6	1	1	2	5	3	6	2	6	0	0	2	2	0	0	4	4			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr3:180693130G>A	ENST00000357559.4	+	16	2017	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	FXR1_ENST00000480918.1_Missense_Mutation_p.E532K|FXR1_ENST00000468861.1_Intron|FXR1_ENST00000305586.7_Missense_Mutation_p.E460K|FXR1_ENST00000445140.2_Intron|FXR1_ENST00000491062.1_Intron	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	545					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TTCTAGAGCTGAGTCTCAGAG	0.308													3	10					0	0	0	0	A	180693130	G	A	180693130	3	1	109	1	0	0	0	0	1	0	0	0	6163	1291	45	2	1695	2	FXR1	3	180693130	Missense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08	42309163	180693130	17329300	18	20910											
AFAP1	60312	broad.mit.edu	37	chr4	7774605	7774605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagggtgactccgcccGccagcgctttcttcaggctc	4	8	11	18	3	2	1	1	1	1	0	4	1	3	1	5	2	1	2	5	2	0	2			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr4:7774605G>A	ENST00000420658.1	-	16	2467	c.2195C>T	c.(2194-2196)gCg>gTg	p.A732V	AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.A732V|AFAP1_ENST00000358461.2_Missense_Mutation_p.A648V|AFAP1_ENST00000360265.4_Missense_Mutation_p.A648V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	652						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GACTCCGCCCGCCAGCGCTTT	0.657													4	35					0	0	0	0	A	7774605	G	A	7774605	3	1	109	1	0	0	0	0	1	0	0	0	353	1087	38	1	261	1	AFAP1	4	7774605	Missense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08		7774605	183379671	19	20911											
KDR	3791	broad.mit.edu	37	chr4	55964338	55964338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctggggaattcccatttGctggcatcataaggcagtcg	8	12	11	10	1	2	0	1	0	1	0	5	1	3	1	1	4	1	3	1	4	2	3			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr4:55964338G>T	ENST00000263923.4	-	17	2770	c.2475C>A	c.(2473-2475)agC>agA	p.S825R		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	825					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ATTCCCATTTGCTGGCATCAT	0.453			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			14	60					6.31663e-08	8.44951e-08	1	0	T	55964338	G	T	55964338	3	4	109	1	0	0	0	0	1	0	0	0	8191	1310	46	4	1651	4	KDR	4	55964338	Missense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08	48189733	55964338	135189938	20	20912											
LIN54	132660	broad.mit.edu	37	chr4	83849335	83849335	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaacatcgtccgaattcctCaagtatcatccgttccgctg	10	11	6	14	4	2	0	2	0	0	0	7	1	6	0	4	0	1	3	4	0	4	3			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr4:83849335C>G	ENST00000340417.3	-	13	2547	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	LIN54_ENST00000506560.1_Missense_Mutation_p.E635Q|LIN54_ENST00000505397.1_Missense_Mutation_p.E724Q|LIN54_ENST00000505905.1_5'UTR|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000442461.2_Missense_Mutation_p.E503Q|LIN54_ENST00000395283.2_Missense_Mutation_p.E635Q|LIN54_ENST00000510557.1_Missense_Mutation_p.E503Q|LIN54_ENST00000446851.2_Missense_Mutation_p.E503Q	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	724					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CCGAATTCCTCAAGTATCATC	0.468													4	76					0	0	0	0	G	83849335	C	G	83849335	3	3	109	1	0	0	0	0	1	0	0	0	8864	835	29	2	83	2	LIN54	4	83849335	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08	27884997	83849335	107304941	21	20913											
EGF	1950	broad.mit.edu	37	chr4	110866357	110866357	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattaacctccattcatcatTtgtaccacttggtgaactga	12	14	5	10	0	2	2	2	2	0	0	3	2	3	2	3	1	3	1	3	1	4	5	rs139711858		TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr4:110866357T>A	ENST00000265171.5	+	5	1311	c.866T>A	c.(865-867)tTt>tAt	p.F289Y	EGF_ENST00000509793.1_Missense_Mutation_p.F289Y|EGF_ENST00000503392.1_Missense_Mutation_p.F289Y	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	289					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CATTCATCATTTGTACCACTT	0.448													9	28					0	0	0	0	A	110866357	T	A	110866357	3	1	109	1	0	0	0	0	1	0	0	0	4998	1841	64	5	884	5	EGF	4	110866357	Missense_Mutation	SNP	T	TCGA-CN-6996-01A-11D-1912-08	27017022	110866357	80287919	22	20914											
C4orf21	55345	broad.mit.edu	37	chr4	113533743	113533743	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtaataaatggtttcctCactgtaatggagaaaagaaa	17	11	8	5	0	1	2	1	0	0	2	2	3	2	2	1	2	0	3	1	2	7	4			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr4:113533743C>G	ENST00000505019.1	-	7	2729	c.2602_splice	c.e7-1	p.V868_splice	C4orf21_ENST00000445203.2_Splice_Site_p.V837_splice|C4orf21_ENST00000309071.5_Splice_Site_p.V868_splice	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	868										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATGGTTTCCTCACTGTAATGG	0.284													5	27					0	0	0	0	G	113533743	C	G	113533743	5	3	109	1	0	0	0	0	0	0	1	0	2275	840	29	2	3798	2	C4orf21	4	113533743	Splice_Site	SNP	C	TCGA-CN-6996-01A-11D-1912-08	2667386	113533743	77620533	23	20915											
RGMB	285704	broad.mit.edu	37	chr5	98115428	98115428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatgctggctgcacccagcGaacttcaaaagcctgccgtg	9	8	10	14	2	1	0	1	0	0	0	1	1	1	0	3	1	6	3	3	1	4	2			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr5:98115428G>A	ENST00000308234.7	+	4	806	c.404G>A	c.(403-405)cGa>cAa	p.R135Q	RGMB_ENST00000513185.1_Missense_Mutation_p.R94Q|RGMB_ENST00000504776.1_3'UTR	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	94					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TGCACCCAGCGAACTTCAAAA	0.542													11	89					0	0	0	0	A	98115428	G	A	98115428	3	1	109	1	0	0	0	0	1	0	0	0	13363	1058	37	1	414	1	RGMB	5	98115428	Missense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08		98115428	82799832	24	20916											
HSD17B4	3295	broad.mit.edu	37	chr5	118872146	118872146	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaaaagtggttctggaaaAgtgtaccaaggccctgcaaa	14	8	11	8	0	1	1	0	1	1	0	1	2	1	2	2	3	2	3	2	3	7	2			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr5:118872146A>C	ENST00000504811.1	+	24	2281	c.2097A>C	c.(2095-2097)aaA>aaC	p.K699N	HSD17B4_ENST00000414835.2_Missense_Mutation_p.K534N|HSD17B4_ENST00000510025.1_Missense_Mutation_p.K650N|HSD17B4_ENST00000515320.1_Missense_Mutation_p.K656N|HSD17B4_ENST00000509514.1_Missense_Mutation_p.K412N|HSD17B4_ENST00000256216.6_Missense_Mutation_p.K674N|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000513628.1_Missense_Mutation_p.K537N	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	674	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GTTCTGGAAAAGTGTACCAAG	0.418													11	43					0	0	0	0	C	118872146	A	C	118872146	3	2	109	1	0	0	0	0	1	0	0	0	7436	69	3	5	2112	5	HSD17B4	5	118872146	Missense_Mutation	SNP	A	TCGA-CN-6996-01A-11D-1912-08	20756718	118872146	62043114	25	20917											
ZNF300	91975	broad.mit.edu	37	chr5	150275429	150275429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtttttccccagtatgaaCtaactgatgtgtaatgagtt	11	15	9	6	0	0	3	0	3	0	0	1	3	1	3	2	1	2	4	2	1	4	6			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr5:150275429C>A	ENST00000446148.2	-	7	1847	c.1420G>T	c.(1420-1422)Gtt>Ttt	p.V474F	ZNF300_ENST00000394226.2_Missense_Mutation_p.V458F|ZNF300_ENST00000274599.5_Missense_Mutation_p.V458F|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.V422F	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTATGAACTAACTGATGT	0.398													9	44					0.000274275	0.000353129	1	0	A	150275429	C	A	150275429	3	1	109	1	0	0	0	0	1	0	0	0	17926	565	20	4	446	4	ZNF300	5	150275429	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08	31403283	150275429	30639831	26	20918											
CD2AP	23607	broad.mit.edu	37	chr6	47501441	47501441	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgaataagcacctatggacTtccagctggaggaattcagc	13	8	10	10	1	1	0	1	0	0	0	2	4	2	3	2	3	3	2	2	3	4	4			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr6:47501441T>G	ENST00000359314.5	+	3	725	c.269T>G	c.(268-270)cTt>cGt	p.L90R		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	90	Interaction with ANLN and localization to the midbody.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ACCTATGGACTTCCAGCTGGA	0.383													7	20					0	0	0	0	G	47501441	T	G	47501441	3	3	109	1	0	0	0	0	1	0	0	0	3023	1609	56	5	279	5	CD2AP	6	47501441	Missense_Mutation	SNP	T	TCGA-CN-6996-01A-11D-1912-08		47501441	123613626	27	20919											
BMPER	168667	broad.mit.edu	37	chr7	34118794	34118794	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttgaaagtgaccaccaaAgcaggtggggcgtctgtggc	9	8	14	10	1	2	2	0	2	2	0	2	2	2	2	2	4	1	1	2	4	2	1			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr7:34118794A>G	ENST00000297161.2	+	13	1778	c.1404A>G	c.(1402-1404)aaA>aaG	p.K468K	BMPER_ENST00000426693.1_Silent_p.K468K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	468	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGACCACCAAAGCAGGTGGGG	0.622													12	59					0	0	0	0	G	34118794	A	G	34118794	2	3	109	1	0	0	0	0	0	0	0	1	1473	69	3	5		5	BMPER	7	34118794	Silent	SNP	A	TCGA-CN-6996-01A-11D-1912-08		34118794	125019869	28	20920											
LIMK1	3984	broad.mit.edu	37	chr7	73523259	73523259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcatgcgatgcctggaaCaccccaacgtgctcaagttc	10	8	10	13	2	2	0	2	0	0	0	3	2	2	1	3	2	5	2	3	2	3	1			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr7:73523259C>T	ENST00000418310.1	+	10	1369	c.1267C>T	c.(1267-1269)Cac>Tac	p.H423Y	LIMK1_ENST00000538333.3_Missense_Mutation_p.H359Y|LIMK1_ENST00000336180.2_Missense_Mutation_p.H393Y			P53667	LIMK1_HUMAN	LIM domain kinase 1	393	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				ATGCCTGGAACACCCCAACGT	0.587													18	36					0	0	0	0	T	73523259	C	T	73523259	3	4	109	1	0	0	0	0	1	0	0	0	8855	478	17	4	1215	4	LIMK1	7	73523259	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08	39404465	73523259	85615404	29	20921											
CTTNBP2	83992	broad.mit.edu	37	chr7	117351760	117351760	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaagaaaagatttaactCttgaaacacccaactcagtc	17	8	6	10	0	2	3	1	1	1	2	3	4	2	4	1	1	3	0	1	1	6	3			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr7:117351760C>G	ENST00000160373.3	-	23	4914	c.4823G>C	c.(4822-4824)aGa>aCa	p.R1608T	CFTR_ENST00000429014.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1608										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGATTTAACTCTTGAAACACC	0.423													3	71					0	0	0	0	G	117351760	C	G	117351760	3	3	109	1	0	0	0	0	1	0	0	0	4077	913	32	2	172	2	CTTNBP2	7	117351760	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08	43828501	117351760	41786903	30	20922											
EYA1	2138	broad.mit.edu	37	chr8	72267106	72267106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcactactaccactcagaCggctatgcgggctggttaga	10	10	10	11	2	2	2	2	0	0	2	2	2	2	2	1	3	3	3	1	3	4	5	rs74720958	by1000genomes	TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr8:72267106C>T	ENST00000340726.3	-	3	674	c.35G>A	c.(34-36)cGt>cAt	p.R12H	EYA1_ENST00000303824.7_Missense_Mutation_p.R12H|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000419131.1_Missense_Mutation_p.R12H|EYA1_ENST00000388743.2_Missense_Mutation_p.R12H|EYA1_ENST00000388740.3_Intron|EYA1_ENST00000388742.4_Missense_Mutation_p.R12H	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	12					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ACCACTCAGACGGCTATGCGG	0.458													51	125					0	0	0	0	T	72267106	C	T	72267106	3	4	109	1	0	0	0	0	1	0	0	0	5366	536	19	1	1807	1	EYA1	8	72267106	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08		72267106	74096916	31	20923											
RNF19A	25897	broad.mit.edu	37	chr8	101299799	101299799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtctaagcataaattcttCgtatttttccatcaagacat	12	15	4	10	2	3	1	1	0	2	1	5	1	4	1	2	0	1	2	2	0	5	7			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr8:101299799C>T	ENST00000519449.1	-	3	920	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	RNF19A_ENST00000341084.2_Missense_Mutation_p.E202K	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	202					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATAAATTCTTCGTATTTTTCC	0.388													7	96					0	0	0	0	T	101299799	C	T	101299799	3	4	109	1	0	0	0	0	1	0	0	0	13555	893	31	1	1948	1	RNF19A	8	101299799	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08	29032693	101299799	45064223	32	20924											
CSMD3	114788	broad.mit.edu	37	chr8	113349858	113349858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaattaatgtgtatcctGggaaacattcaaatgaaatg	15	13	7	6	0	1	1	1	1	0	0	3	2	3	2	2	1	1	1	2	1	6	4			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr8:113349858G>T	ENST00000297405.5	-	43	6999	c.6755C>A	c.(6754-6756)cCa>cAa	p.P2252Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2182Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2212Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2148Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2252	Sushi 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGTATCCTGGGAAACATTC	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	106					0.00024832	0.000323759	1	0	T	113349858	G	T	113349858	3	4	109	1	0	0	0	0	1	0	0	0	3978	1348	47	4	4484	4	CSMD3	8	113349858	Missense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08	12050059	113349858	33014164	33	20925											
CDKN2A	1029	broad.mit.edu	37	chr9	21971208	21971208	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgcccatcatcatgacCtgccagagagaacagaatgg	12	6	11	12	1	2	4	2	1	0	3	2	5	2	4	3	1	3	1	3	1	2	0			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr9:21971208C>T	ENST00000579755.1	-	2	486		c.e2-1		CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCATCATGACCTGCCAGAGAG	0.667		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	6					0	0	0	0	T	21971208	C	T	21971208	5	4	109	1	0	0	0	0	0	0	1	0	3190	695	24	4	328	4	CDKN2A	9	21971208	Splice_Site	SNP	C	TCGA-CN-6996-01A-11D-1912-08		21971208	119242223	34	20926											
SH2D3C	10044	broad.mit.edu	37	chr9	130507309	130507309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagctggggctcactggaaCggcgggcgacaggggaggca	9	3	19	10	3	1	0	1	0	0	0	1	3	1	2	0	8	2	3	0	8	1	0			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr9:130507309C>T	ENST00000314830.8	-	7	1447	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R287H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R285H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R288H|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R377H|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R91H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	445				R -> C (in Ref. 1; AAD28246 and 2; AAQ89948).	JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCACTGGAACGGCGGGCGAC	0.657													65	49					0	0	0	0	T	130507309	C	T	130507309	3	4	109	1	0	0	0	0	1	0	0	0	14321	536	19	1	1272	1	SH2D3C	9	130507309	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08	108536101	130507309	10706122	35	20927											
SETX	23064	broad.mit.edu	37	chr9	135203150	135203150	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagctgttgaagttggctCaggacactgacgaaatttct	10	12	10	9	1	3	2	2	2	1	0	3	4	3	3	0	2	1	4	0	2	2	3			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr9:135203150C>G	ENST00000372169.2	-	10	4017	c.3835G>C	c.(3835-3837)Gag>Cag	p.E1279Q	SETX_ENST00000393220.1_Missense_Mutation_p.E1279Q|SETX_ENST00000224140.5_Missense_Mutation_p.E1279Q			Q7Z333	SETX_HUMAN	senataxin	1279					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GAAGTTGGCTCAGGACACTGA	0.428													26	177					0	0	0	0	G	135203150	C	G	135203150	3	3	109	1	0	0	0	0	1	0	0	0	14228	835	29	2	4266	2	SETX	9	135203150	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08	4695841	135203150	6010281	36	20928											
A1CF	29974	broad.mit.edu	37	chr10	52576013	52576013	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccactggttttgctagggtGacttcaatgggggaaccatc	8	12	12	9	0	1	1	1	1	0	0	3	2	2	2	2	4	2	2	2	4	3	4			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr10:52576013G>A	ENST00000395489.2	-	11	1269	c.873C>T	c.(871-873)gtC>gtT	p.V291V	A1CF_ENST00000373997.3_Silent_p.V298V|A1CF_ENST00000282641.2_Silent_p.V298V|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Silent_p.V306V|ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000373993.1_Silent_p.V298V|A1CF_ENST00000374001.1_Silent_p.V298V|A1CF_ENST00000395495.1_Silent_p.V243V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	298	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTGCTAGGGTGACTTCAATGG	0.478													16	40					0	0	0	0	A	52576013	G	A	52576013	2	1	109	1	0	0	0	0	0	0	0	1	2	1277	45	2		2	A1CF	10	52576013	Silent	SNP	G	TCGA-CN-6996-01A-11D-1912-08		52576013	82958734	37	20929											
SUPV3L1	6832	broad.mit.edu	37	chr10	70960106	70960106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagggagagagagaactaGaaccaatcacaacctctcaa	20	4	8	9	0	2	3	2	0	1	3	3	6	2	4	2	1	3	0	2	1	8	1			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr10:70960106G>A	ENST00000359655.4	+	11	1429	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	457	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGAGAACTAGAACCAATCAC	0.413													22	73					0	0	0	0	A	70960106	G	A	70960106	3	1	109	1	0	0	0	0	1	0	0	0	15492	943	33	2	1411	2	SUPV3L1	10	70960106	Missense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08	18384093	70960106	64574641	38	20930											
TEAD1	7003	broad.mit.edu	37	chr11	12901270	12901270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaaggatcagactgcaaagGataaggccctgcagcacatg	14	6	11	10	0	2	1	2	0	0	1	2	3	2	3	1	3	3	3	1	3	3	1			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr11:12901270G>T	ENST00000361905.4	+	6	966	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	TEAD1_ENST00000526600.1_Missense_Mutation_p.D20Y|TEAD1_ENST00000527636.1_Missense_Mutation_p.D116Y|TEAD1_ENST00000334310.6_Missense_Mutation_p.D105Y|TEAD1_ENST00000527575.1_Missense_Mutation_p.D116Y|TEAD1_ENST00000361985.2_Missense_Mutation_p.D116Y	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	116					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GACTGCAAAGGATAAGGCCCT	0.562													5	62					2.0095e-06	2.65357e-06	1	0	T	12901270	G	T	12901270	3	4	109	1	0	0	0	0	1	0	0	0	15832	1174	41	2	360	2	TEAD1	11	12901270	Missense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08		12901270	122105246	39	20931											
AHNAK	79026	broad.mit.edu	37	chr11	62293150	62293150	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgggcaggttcacatccacTtcagggccctctgctttgaa	7	12	10	12	0	3	1	2	1	1	0	4	1	4	1	2	3	1	3	2	3	1	4			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr11:62293150T>C	ENST00000378024.4	-	5	9013	c.8739A>G	c.(8737-8739)gaA>gaG	p.E2913E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2913					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACATCCACTTCAGGGCCCT	0.517													76	294					0	0	0	0	C	62293150	T	C	62293150	2	2	109	1	0	0	0	0	0	0	0	1	414	1606	56	5		5	AHNAK	11	62293150	Silent	SNP	T	TCGA-CN-6996-01A-11D-1912-08	49391880	62293150	72713366	40	20932											
C11orf82	220042	broad.mit.edu	37	chr11	82644784	82644784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtattttattcagatcttGatggtaactatgaaaaaata	15	16	6	4	0	2	3	1	2	1	1	2	3	2	3	0	1	1	2	0	1	8	8			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr11:82644784G>C	ENST00000533655.1	+	6	2616	c.2404G>C	c.(2404-2406)Gat>Cat	p.D802H	C11orf82_ENST00000329143.3_Missense_Mutation_p.D501H|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.D802H|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	802					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TTCAGATCTTGATGGTAACTA	0.363													3	23					0	0	0	0	C	82644784	G	C	82644784	3	2	109	1	0	0	0	0	1	0	0	0	1676	1290	45	2	2418	2	C11orf82	11	82644784	Missense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08	20351634	82644784	52361732	41	20933											
ACAD10	80724	broad.mit.edu	37	chr12	112150388	112150388	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttccaaacactcggcctgtGaaaaagacgatggaaattcc	14	8	9	10	2	0	2	0	1	0	1	3	4	2	3	3	2	1	1	3	2	4	2			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr12:112150388G>A	ENST00000455480.2	+	7	1047	c.870G>A	c.(868-870)gtG>gtA	p.V290V	ACAD10_ENST00000313698.4_Silent_p.V259V|ACAD10_ENST00000549590.1_Silent_p.V259V|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	259							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTCGGCCTGTGAAAAAGACGA	0.438													26	206					0	0	0	0	A	112150388	G	A	112150388	2	1	109	1	0	0	0	0	0	0	0	1	108	1277	45	2		2	ACAD10	12	112150388	Silent	SNP	G	TCGA-CN-6996-01A-11D-1912-08		112150388	21701507	42	20934											
PCDH17	27253	broad.mit.edu	37	chr13	58299273	58299273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcattccagagccagcCgggattccagtgagatgggt	9	9	14	9	1	0	2	0	1	0	2	2	4	2	3	4	2	3	1	4	2	0	2			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr13:58299273C>T	ENST00000377918.3	+	4	3351	c.3325C>T	c.(3325-3327)Cgg>Tgg	p.R1109W		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1109					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R1109W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGAGCCAGCCGGGATTCCAG	0.522													6	203					0	0	0	0	T	58299273	C	T	58299273	3	4	109	1	0	0	0	0	1	0	0	0	11583	643	23	1	3339	1	PCDH17	13	58299273	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08		58299273	56870605	43	20935											
DIAPH3	81624	broad.mit.edu	37	chr13	60545216	60545216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaaggcagtggaggcggagGaggaagtgctgagtggccag	11	4	21	5	1	0	2	0	1	0	1	0	6	0	6	1	7	1	2	1	7	2	0			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr13:60545216G>A	ENST00000400324.4	-	16	1949	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	DIAPH3_ENST00000400319.1_Missense_Mutation_p.P507S|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P577S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P566S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P577S|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P531S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	577	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GGAGGCGGAGGAGGAAGTGCT	0.552													5	31					0	0	0	0	A	60545216	G	A	60545216	3	1	109	1	0	0	0	0	1	0	0	0	4557	1174	41	2	1924	2	DIAPH3	13	60545216	Missense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08	2245943	60545216	54624662	44	20936											
LMO7	4008	broad.mit.edu	37	chr13	76419476	76419476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttaggaataaatccagaTctactactgaactggatgat	14	13	8	6	0	1	3	0	2	1	1	2	5	2	5	1	2	3	1	1	2	7	5			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr13:76419476T>C	ENST00000357063.3	+	27	5527	c.4267T>C	c.(4267-4269)Tct>Cct	p.S1423P	LMO7_ENST00000465261.2_Missense_Mutation_p.S1138P|LMO7_ENST00000377534.3_Missense_Mutation_p.S1423P|LMO7_ENST00000526202.1_Missense_Mutation_p.S1015P|LMO7_ENST00000321797.8_Missense_Mutation_p.S1138P|LMO7_ENST00000341547.4_Missense_Mutation_p.S1089P			Q8WWI1	LMO7_HUMAN	LIM domain 7	1423						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TAAATCCAGATCTACTACTGA	0.313													6	16					0	0	0	0	C	76419476	T	C	76419476	3	2	109	1	0	0	0	0	1	0	0	0	8910	1435	50	5	4373	5	LMO7	13	76419476	Missense_Mutation	SNP	T	TCGA-CN-6996-01A-11D-1912-08	15874260	76419476	38750402	45	20937											
SLC7A7	9056	broad.mit.edu	37	chr14	23243214	23243214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagtaaaagggcaggcCtgagagggcaatggcaatgc	14	4	17	6	0	0	1	0	1	0	1	0	4	0	2	1	5	1	4	1	5	5	1			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr14:23243214C>T	ENST00000397532.3	-	9	1882	c.1357G>A	c.(1357-1359)Ggc>Agc	p.G453S	SLC7A7_ENST00000397528.4_Missense_Mutation_p.G453S|SLC7A7_ENST00000285850.7_Missense_Mutation_p.G453S|SLC7A7_ENST00000397529.2_Missense_Mutation_p.G453S|SLC7A7_ENST00000554517.1_Missense_Mutation_p.G187S|SLC7A7_ENST00000555702.1_Missense_Mutation_p.G453S|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	453					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AAGGGCAGGCCTGAGAGGGCA	0.522													15	45					0	0	0	0	T	23243214	C	T	23243214	3	4	109	1	0	0	0	0	1	0	0	0	14791	681	24	4	186	4	SLC7A7	14	23243214	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08		23243214	84106326	46	20938											
C14orf37	145407	broad.mit.edu	37	chr14	58605875	58605875	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatcttcagagaccaccaGttggggagtctgctttgagg	8	11	14	8	0	3	2	1	1	2	1	3	5	3	4	2	4	1	2	2	4	0	3			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr14:58605875G>A	ENST00000267485.7	-	2	396	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	68						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GAGACCACCAGTTGGGGAGTC	0.453													40	136					0	0	0	0	A	58605875	G	A	58605875	2	1	109	1	0	0	0	0	0	0	0	1	1783	1020	36	4		4	C14orf37	14	58605875	Silent	SNP	G	TCGA-CN-6996-01A-11D-1912-08	35362661	58605875	48743665	47	20939											
CLN6	54982	broad.mit.edu	37	chr15	68503628	68503628	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgacccaggtactcatcaTaatagtagagcagctcaaag	15	8	9	9	0	3	2	3	1	0	1	3	2	3	2	1	1	3	4	1	1	5	4	rs121908079		TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr15:68503628T>A	ENST00000249806.5	-	5	672	c.515A>T	c.(514-516)tAt>tTt	p.Y172F	CLN6_ENST00000564752.1_Missense_Mutation_p.M181L|CLN6_ENST00000538696.1_Missense_Mutation_p.Y204F|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000418702.2_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000566347.1_Missense_Mutation_p.Y109F	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	172					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GTACTCATCATAATAGTAGAG	0.602													24	65					0	0	0	0	A	68503628	T	A	68503628	3	1	109	1	0	0	0	0	1	0	0	0	3575	1406	49	5	432	5	CLN6	15	68503628	Missense_Mutation	SNP	T	TCGA-CN-6996-01A-11D-1912-08		68503628	34027764	48	20940											
SEMA7A	8482	broad.mit.edu	37	chr15	74709052	74709052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggctttgatgaactgtGggtctgccagggacagaggc	7	10	17	7	0	1	3	0	2	1	1	1	4	1	4	1	5	2	1	1	5	1	1			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr15:74709052G>C	ENST00000261918.4	-	7	1213	c.665C>G	c.(664-666)cCa>cGa	p.P222R	SEMA7A_ENST00000542748.1_Missense_Mutation_p.P57R|SEMA7A_ENST00000543145.2_Missense_Mutation_p.P208R	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	222	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GATGAACTGTGGGTCTGCCAG	0.567													22	84					0	0	0	0	C	74709052	G	C	74709052	3	2	109	1	0	0	0	0	1	0	0	0	14130	1348	47	4	1367	4	SEMA7A	15	74709052	Missense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08	6205424	74709052	27822340	49	20941											
GTF3C1	2975	broad.mit.edu	37	chr16	27561047	27561047	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatagaagctgatgccCgggtgcgtggcgagggcccg	6	7	16	12	4	1	2	1	1	0	1	2	3	2	2	3	3	3	1	3	3	2	1			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr16:27561047C>T	ENST00000356183.4	-	1	180	c.165G>A	c.(163-165)ccG>ccA	p.P55P	GTF3C1_ENST00000561623.1_Silent_p.P55P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	55						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGCTGATGCCCGGGTGCGTGG	0.731													4	28					0	0	0	0	T	27561047	C	T	27561047	2	4	109	1	0	0	0	0	0	0	0	1	6922	639	23	1		1	GTF3C1	16	27561047	Silent	SNP	C	TCGA-CN-6996-01A-11D-1912-08		27561047	62793706	50	20942											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	10	11	12	8	1	0	0	0	0	0	0	0	2	0	2	1	2	3	5	1	2	4	4			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr17:7577568C>A	ENST00000420246.2	-	7	845	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000269305.4_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAACTGTTACACATGTAGTT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			30	48					5.60225e-13	7.69376e-13	1	0	A	7577568	C	A	7577568	3	1	109	1	0	0	0	0	1	0	0	0	16476	478	17	4	577	4	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08		7577568	73617642	51	20943											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	11	12	14	4	0	1	1	1	1	0	0	1	3	1	3	0	3	2	4	0	3	4	4			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	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						TCATGGAAAAAGGGATAGCTG	0.522													3	76					0	0	0	0	G	9090831	A	G	9090831	2	3	109	1	0	0	0	0	0	0	0	1	10043	59	3	5		5	MUC16	19	9090831	Silent	SNP	A	TCGA-CN-6996-01A-11D-1912-08		9090831	50038152	52	20944											
GIPC1	10755	broad.mit.edu	37	chr19	14591280	14591280	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtggatgtggtcgatcacGctgccctccttgatgcgctg	5	11	14	11	3	1	1	1	1	0	0	3	3	2	2	2	3	2	2	2	3	0	1			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr19:14591280G>A	ENST00000393033.4	-	6	761	c.492C>T	c.(490-492)agC>agT	p.S164S	GIPC1_ENST00000591349.1_Silent_p.S67S|GIPC1_ENST00000345425.2_Silent_p.S164S|GIPC1_ENST00000393028.1_Silent_p.S67S|GIPC1_ENST00000393029.3_Silent_p.S67S|GIPC1_ENST00000586027.1_Silent_p.S164S	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	164	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GGTCGATCACGCTGCCCTCCT	0.682											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	67					0	0	0	0	A	14591280	G	A	14591280	2	1	109	1	0	0	0	0	0	0	0	1	6443	1078	38	1		1	GIPC1	19	14591280	Silent	SNP	G	TCGA-CN-6996-01A-11D-1912-08	5500449	14591280	44537703	53	20945											
ZNF671	79891	broad.mit.edu	37	chr19	58232120	58232120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataatcactgctgtgaattCtccagtgtacattaaggtgg	11	13	9	8	0	2	1	1	1	1	0	3	1	2	1	1	2	2	2	1	2	4	4			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr19:58232120C>T	ENST00000317398.6	-	4	1429	c.1334G>A	c.(1333-1335)aGa>aAa	p.R445K	ZNF671_ENST00000335820.3_Missense_Mutation_p.R347K|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCTGTGAATTCTCCAGTGTAC	0.463													17	57					0	0	0	0	T	58232120	C	T	58232120	3	4	109	1	0	0	0	0	1	0	0	0	18173	913	32	2	274	2	ZNF671	19	58232120	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08	43640840	58232120	896863	54	20946											
PREX1	57580	broad.mit.edu	37	chr20	47266745	47266745	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcagttgggctgcaaaCtgagaaagtggaggccgtaa	11	9	13	8	1	2	1	1	1	1	1	2	3	2	2	1	3	2	4	1	3	3	3			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr20:47266745C>T	ENST00000396220.1	-	24	2840		c.e24-1		PREX1_ENST00000371941.3_Splice_Site			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1						actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGGCTGCAAACTGAGAAAGTG	0.592													21	63					0	0	0	0	T	47266745	C	T	47266745	5	4	109	1	0	0	0	0	0	0	1	0	12556	579	20	4	2230	4	PREX1	20	47266745	Splice_Site	SNP	C	TCGA-CN-6996-01A-11D-1912-08		47266745	15758775	55	20947											
GTSE1	51512	broad.mit.edu	37	chr22	46725347	46725347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcctctcatcgacttctgCgataccccagaagcacacgt	9	10	6	16	3	2	1	1	0	2	1	5	3	3	1	3	0	3	1	3	0	2	3	rs61737807	byFrequency	TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr22:46725347C>T	ENST00000454366.1	+	11	2231	c.2019C>T	c.(2017-2019)tgC>tgT	p.C673C		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	654					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.C654C(1)|p.C673C(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TCGACTTCTGCGATACCCCAG	0.507													40	133					0	0	0	0	T	46725347	C	T	46725347	2	4	109	1	0	0	0	0	0	0	0	1	6935	776	27	1		1	GTSE1	22	46725347	Silent	SNP	C	TCGA-CN-6996-01A-11D-1912-08		46725347	4579219	56	20948											
NHS	4810	broad.mit.edu	37	chrX	17710476	17710476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccggagccggagcgatcGccgagagcaaagagcagctg	12	2	15	12	5	0	2	0	0	0	2	1	6	0	4	3	2	5	3	3	2	1	0			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chrX:17710476G>A	ENST00000380060.3	+	3	1078	c.740G>A	c.(739-741)cGc>cAc	p.R247H	NHS_ENST00000398097.3_Missense_Mutation_p.R70H	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	247						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CGGAGCGATCGCCGAGAGCAA	0.527													28	65					0	0	0	0	A	17710476	G	A	17710476	3	1	109	1	0	0	0	0	1	0	0	0	10481	1087	38	1	788	1	NHS	23	17710476	Missense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08		17710476	137560084	57	20949											
PDHA1	5160	broad.mit.edu	37	chrX	19373621	19373621	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgatttcattcctgggctgaGagtaaggacacctgtggtgg	8	11	14	8	1	1	1	1	1	0	1	2	4	2	2	2	4	0	2	2	4	1	3			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chrX:19373621G>C	ENST00000379806.5	+	8	1017	c.873_splice	c.e8+1	p.R291_splice	PDHA1_ENST00000422285.2_Splice_Site_p.R253_splice|PDHA1_ENST00000540249.1_Splice_Site_p.R222_splice|PDHA1_ENST00000545074.1_Splice_Site_p.R260_splice	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	253					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CCTGGGCTGAGAGTAAGGACA	0.512													8	126					0	0	0	0	C	19373621	G	C	19373621	5	2	109	1	0	0	0	0	0	0	1	0	11735	956	33	2	923	2	PDHA1	23	19373621	Splice_Site	SNP	G	TCGA-CN-6996-01A-11D-1912-08	1663145	19373621	135896939	58	20950											
ZNF157	7712	broad.mit.edu	37	chrX	47272940	47272940	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacctcacagaacatcagAgaactcacataggctggtcc	14	6	7	14	0	3	2	3	0	0	2	4	3	4	2	2	2	2	1	2	2	3	1			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chrX:47272940A>G	ENST00000377073.3	+	4	1554	c.1468A>G	c.(1468-1470)Aga>Gga	p.R490G		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	490					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGAACATCAGAGAACTCACAT	0.488													14	46					0	0	0	0	G	47272940	A	G	47272940	3	3	109	1	0	0	0	0	1	0	0	0	17832	296	11	5	1482	5	ZNF157	23	47272940	Missense_Mutation	SNP	A	TCGA-CN-6996-01A-11D-1912-08	27899319	47272940	107997620	59	20951											
TEX11	56159	broad.mit.edu	37	chrX	69826836	69826836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagtataaaaaactctctCatcatcactggatctttgtc	14	13	5	9	0	5	0	3	0	2	0	7	2	5	1	0	1	1	1	0	1	5	3			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chrX:69826836C>T	ENST00000395889.2	-	24	2123	c.1968G>A	c.(1966-1968)atG>atA	p.M656I	TEX11_ENST00000344304.3_Missense_Mutation_p.M656I|TEX11_ENST00000374333.2_Missense_Mutation_p.M641I|TEX11_ENST00000374320.2_Missense_Mutation_p.M331I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	656							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAAACTCTCTCATCATCACTG	0.318													3	30					0	0	0	0	T	69826836	C	T	69826836	3	4	109	1	0	0	0	0	1	0	0	0	15868	826	29	2	886	2	TEX11	23	69826836	Missense_Mutation	SNP	C	TCGA-CN-6996-01A-11D-1912-08	22553896	69826836	85443724	60	20952											
ZBTB33	10009	broad.mit.edu	37	chrX	119388597	119388597	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatcggtgaagatacttatGatatagtgatccctgtcaaa	14	13	8	6	1	1	4	1	3	0	1	3	4	2	4	1	1	1	0	1	1	7	5			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chrX:119388597G>C	ENST00000326624.2	+	2	1555	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	ZBTB33_ENST00000557385.1_Missense_Mutation_p.D443H	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	443					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGATACTTATGATATAGTGAT	0.413													13	85					0	0	0	0	C	119388597	G	C	119388597	3	2	109	1	0	0	0	0	1	0	0	0	17631	1290	45	2	1329	2	ZBTB33	23	119388597	Missense_Mutation	SNP	G	TCGA-CN-6996-01A-11D-1912-08	49561761	119388597	35881963	61	20953											
NADK	65220	broad.mit.edu	37	chr1	1686106	1686106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttcaccaccctgaccttCagccgactccggagaacaac	10	7	6	18	2	2	2	2	1	0	1	4	4	4	2	6	1	3	0	6	1	2	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:1686106C>T	ENST00000344463.4	-	10	1376	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	NADK_ENST00000341426.5_Silent_p.L240L|NADK_ENST00000342348.5_Silent_p.L208L|NADK_ENST00000378625.1_Silent_p.L385L|NADK_ENST00000341991.3_Silent_p.L240L			O95544	NADK_HUMAN	NAD kinase	240					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CCCTGACCTTCAGCCGACTCC	0.647													60	22					0	0	0	0	T	1686106	C	T	1686106	2	4	110	1	0	0	0	0	0	0	0	1	10207	813	29	2		2	NADK	1	1686106	Silent	SNP	C	TCGA-CN-6997-01A-11D-2012-08		1686106	247564515	1	20954											
ENO1	2023	broad.mit.edu	37	chr1	8926383	8926385	+	In_Frame_Del	DEL	CCA	CCA	-																															agcaaacccgccttcatcccCcacattggtggcatctttcc																										TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:8926383_8926385delCCA	ENST00000234590.4	-	7	739_741	c.620_622delTGG	c.(619-624)ggg>g	p.VG207del		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	207	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CCTTCATCCCCCACATTGGTGGC	0.552													52	29	---	---	---	---					-	8926385	CCA	-	8926383	7	5	110	1	0	1	0	1	0	0	0	0	5159	623	22	0	706	0	ENO1	1	8926383	In_Frame_Del	DEL	CCA	TCGA-CN-6997-01A-11D-2012-08	7240277	8926383	240324238	2	20955											
SPEN	23013	broad.mit.edu	37	chr1	16258889	16258889	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagatgctggcacagacAaaaacccccctgaaaccgcc	16	3	8	14	1	0	3	0	1	0	2	0	4	0	3	5	1	3	2	5	1	5	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:16258889A>T	ENST00000375759.3	+	11	6358	c.6154A>T	c.(6154-6156)Aaa>Taa	p.K2052*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2052					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGGCACAGACAAAAACCCCCC	0.502													28	10					0	0	0	0	T	16258889	A	T	16258889	4	4	110	1	0	0	0	0	0	1	0	0	15128	131	5	5	6196	5	SPEN	1	16258889	Nonsense_Mutation	SNP	A	TCGA-CN-6997-01A-11D-2012-08	7332506	16258889	232991732	3	20956											
NBPF1	55672	broad.mit.edu	37	chr1	16893786	16893786	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaggagttgaataacaTctatccagtgagtcctgcaa	13	10	9	9	0	1	3	0	3	1	0	3	4	3	4	3	1	2	2	3	1	5	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:16893786T>A	ENST00000430580.2	-	25	3614	c.2727A>T	c.(2725-2727)agA>agT	p.R909S	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	909	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTGAATAACATCTATCCAGTG	0.493													66	660					0	0	0	0	A	16893786	T	A	16893786	3	1	110	1	0	0	0	0	1	0	0	0	10262	1432	50	5	717	5	NBPF1	1	16893786	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	634897	16893786	232356835	4	20957											
ZNF683	257101	broad.mit.edu	37	chr1	26691127	26691127	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaggctgcggtgcctgTctgggaactcaatgggaccc	8	7	15	11	1	2	0	1	0	1	0	2	2	2	2	2	5	3	2	2	5	3	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:26691127T>C	ENST00000436292.1	-	4	1030	c.910A>G	c.(910-912)Aca>Gca	p.T304A	ZNF683_ENST00000349618.3_Missense_Mutation_p.T304A|ZNF683_ENST00000374204.1_Missense_Mutation_p.T304A|ZNF683_ENST00000403843.1_Missense_Mutation_p.T304A			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GCGGTGCCTGTCTGGGAACTC	0.577													3	130					0	0	0	0	C	26691127	T	C	26691127	3	2	110	1	0	0	0	0	1	0	0	0	18185	1667	58	5	616	5	ZNF683	1	26691127	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	9797341	26691127	222559494	5	20958											
MANEAL	149175	broad.mit.edu	37	chr1	38265848	38265848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctgggcggagcacttcatCaaagagaaggagcagtggct	11	6	15	9	2	2	1	2	0	0	1	2	4	2	3	0	4	2	4	0	4	2	1			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:38265848C>G	ENST00000373045.6	+	4	1728	c.1347C>G	c.(1345-1347)atC>atG	p.I449M	MANEAL_ENST00000329006.5_Missense_Mutation_p.I227M|MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000525897.1_Missense_Mutation_p.I255M|RP11-109P14.9_ENST00000433474.1_RNA	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	449						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGCACTTCATCAAAGAGAAGG	0.582													44	18					0	0	0	0	G	38265848	C	G	38265848	3	3	110	1	0	0	0	0	1	0	0	0	9291	816	29	2	1361	2	MANEAL	1	38265848	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	11574721	38265848	210984773	6	20959											
MSH4	4438	broad.mit.edu	37	chr1	76276476	76276476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaagttgttcactctgaTcacagaaaatttcaaggtaa	15	11	6	9	0	4	2	3	1	1	1	4	2	4	2	1	1	0	3	1	1	5	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:76276476T>C	ENST00000263187.3	+	4	787	c.683T>C	c.(682-684)aTc>aCc	p.I228T		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	228					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCACTCTGATCACAGAAAAT	0.274								Mismatch excision repair (MMR)					27	11					0	0	0	0	C	76276476	T	C	76276476	3	2	110	1	0	0	0	0	1	0	0	0	9942	1435	50	5	697	5	MSH4	1	76276476	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	38010628	76276476	172974145	7	20960											
BCL10	8915	broad.mit.edu	37	chr1	85733454	85733454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagtgtagttgaagagaaGatggtattttcagttctgcc	11	13	13	4	0	2	3	1	1	1	2	2	5	2	4	1	2	1	4	1	2	5	6			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:85733454G>A	ENST00000370580.1	-	3	1295	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	186					apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		TTGAAGAGAAGATGGTATTTT	0.458			T	IGH@	MALT								19	10					0	0	0	0	A	85733454	G	A	85733454	2	1	110	1	0	0	0	0	0	0	0	1	1366	932	33	2		2	BCL10	1	85733454	Silent	SNP	G	TCGA-CN-6997-01A-11D-2012-08	9456978	85733454	163517167	8	20961											
BRDT	676	broad.mit.edu	37	chr1	92446620	92446620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagagagccttctctgagCaattccaatcctgatgagat	12	11	8	10	0	2	4	1	3	1	2	5	6	4	4	3	0	2	1	3	0	3	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:92446620C>A	ENST00000370389.2	+	10	2340	c.1416C>A	c.(1414-1416)agC>agA	p.S472R	BRDT_ENST00000402388.1_Missense_Mutation_p.S545R|BRDT_ENST00000362005.3_Missense_Mutation_p.S545R|BRDT_ENST00000399546.2_Missense_Mutation_p.S545R|BRDT_ENST00000394530.3_Missense_Mutation_p.S499R	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTTCTCTGAGCAATTCCAATC	0.368													29	11					1.50538e-07	8.35128e-07	1	0	A	92446620	C	A	92446620	3	1	110	1	0	0	0	0	1	0	0	0	1516	709	25	4	1669	4	BRDT	1	92446620	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	6713166	92446620	156804001	9	20962											
SLC19A2	10560	broad.mit.edu	37	chr1	169446399	169446399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgagcttaccggttcCtccacgggaggctcctccat	7	9	11	14	2	0	1	0	1	0	0	4	2	4	2	5	4	2	4	5	4	2	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:169446399C>A	ENST00000236137.5	-	2	1037	c.801G>T	c.(799-801)gaG>gaT	p.E267D	SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	267					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					TTACCGGTTCCTCCACGGGAG	0.478													56	79					5.73376e-24	3.33991e-23	1	0	A	169446399	C	A	169446399	3	1	110	1	0	0	0	0	1	0	0	0	14517	680	24	4	712	4	SLC19A2	1	169446399	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	76999779	169446399	79804222	10	20963											
F5	2153	broad.mit.edu	37	chr1	169511140	169511140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaccaacgaatgcttaagtCttctttctgaaaatgtgttg	11	14	8	8	1	3	1	0	1	3	0	3	2	3	1	1	0	2	3	1	0	5	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:169511140C>T	ENST00000367796.3	-	13	3404	c.3203G>A	c.(3202-3204)aGa>aAa	p.R1068K	F5_ENST00000367797.3_Missense_Mutation_p.R1063K			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1063	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATGCTTAAGTCTTCTTTCTGA	0.423													66	130					0	0	0	0	T	169511140	C	T	169511140	3	4	110	1	0	0	0	0	1	0	0	0	5386	913	32	2	3538	2	F5	1	169511140	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	64741	169511140	79739481	11	20964											
LAD1	3898	broad.mit.edu	37	chr1	201356297	201356297	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacctctgcttcttccacGctcggtagtctgaatcagaa	8	11	9	13	2	4	2	1	1	3	1	6	2	5	2	2	2	1	4	2	2	3	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:201356297G>A	ENST00000391967.2	-	3	493	c.192C>T	c.(190-192)agC>agT	p.S64S	LAD1_ENST00000367313.3_Silent_p.S78S	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	64						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CTTCTTCCACGCTCGGTAGTC	0.557													21	47					0	0	0	0	A	201356297	G	A	201356297	2	1	110	1	0	0	0	0	0	0	0	1	8652	1078	38	1		1	LAD1	1	201356297	Silent	SNP	G	TCGA-CN-6997-01A-11D-2012-08	31845157	201356297	47894324	12	20965											
GNPAT	8443	broad.mit.edu	37	chr1	231406686	231406686	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggaaccagctgctcaacAtttttgtgcgcccatcctta	10	12	7	12	1	1	0	1	0	0	0	2	1	2	1	3	1	5	2	3	1	4	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:231406686A>G	ENST00000366647.4	+	10	1631	c.1462A>G	c.(1462-1464)Att>Gtt	p.I488V	GNPAT_ENST00000366646.3_Missense_Mutation_p.I427V	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	488					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GCTGCTCAACATTTTTGTGCG	0.478													68	92					0	0	0	0	G	231406686	A	G	231406686	3	3	110	1	0	0	0	0	1	0	0	0	6592	217	8	5	1500	5	GNPAT	1	231406686	Missense_Mutation	SNP	A	TCGA-CN-6997-01A-11D-2012-08	30050389	231406686	17843935	13	20966											
ZNF695	57116	broad.mit.edu	37	chr1	247150864	247150864	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggtttctctctactaTgaattctcttgtgttgagta	7	19	9	6	0	3	2	0	2	3	0	5	2	3	2	0	1	1	4	0	1	5	8			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:247150864T>C	ENST00000339986.7	-	4	1100	c.953A>G	c.(952-954)cAt>cGt	p.H318R	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	318					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTCTCTACTATGAATTCTCTT	0.348													9	13					0	0	0	0	C	247150864	T	C	247150864	3	2	110	1	0	0	0	0	1	0	0	0	18193	1464	51	5	598	5	ZNF695	1	247150864	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	15744178	247150864	2099757	14	20967											
ATAD2B	54454	broad.mit.edu	37	chr2	24056880	24056880	+	Missense_Mutation	SNP	C	C	A																															agtcaagtctgtttgtagcaCcaataacaacaatttcaccc																										TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:24056880C>A	ENST00000238789.5	-	14	1980	c.1637G>T	c.(1636-1638)gGt>gTt	p.G546V		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	546							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTGTAGCACCAATAACAAC	0.383													13	24					4.3838e-07	2.41758e-06	1	0	A	24056880	C	A	24056880	3	1	110	1	0	0	0	0	1	0	0	0	1076	507	18	4	2799	4	ATAD2B	2	24056880	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08		24056880	219142493	15	20968	174	2									
ATAD2B	54454	broad.mit.edu	37	chr2	24056881	24056881	+	Missense_Mutation	SNP	C	C	G																															gtcaagtctgtttgtagcacCaataacaacaatttcacccc																										TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:24056881C>G	ENST00000238789.5	-	14	1979	c.1636G>C	c.(1636-1638)Ggt>Cgt	p.G546R		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	546							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGTAGCACCAATAACAACA	0.383													13	24					0	0	0	0	G	24056881	C	G	24056881	3	3	110	1	0	0	0	0	1	0	0	0	1076	594	21	4	2800	4	ATAD2B	2	24056881	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	1	24056881	219142492	16	20969	174	2									
REG3A	5068	broad.mit.edu	37	chr2	79385863	79385863	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgggacagcggatccGtgcagagggcagttccctct	6	9	14	12	2	1	1	0	0	1	1	3	3	3	3	3	3	2	3	3	3	0	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:79385863G>T	ENST00000393878.1	-	2	363	c.109C>A	c.(109-111)Cgg>Agg	p.R37R	REG3A_ENST00000305165.2_Silent_p.R37R|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Silent_p.R37R	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	37					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CAGCGGATCCGTGCAGAGGGC	0.552													14	28					1.49906e-05	8.12281e-05	1	0	T	79385863	G	T	79385863	2	4	110	1	0	0	0	0	0	0	0	1	13294	1144	40	3		3	REG3A	2	79385863	Silent	SNP	G	TCGA-CN-6997-01A-11D-2012-08	55328982	79385863	163813510	17	20970											
SLC9A2	6549	broad.mit.edu	37	chr2	103274384	103274384	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcttaatctcagctgtCgatcctgtggctgtgcttgc	5	13	12	11	1	1	0	1	0	1	0	4	1	2	0	1	2	4	5	1	2	1	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:103274384C>A	ENST00000233969.2	+	2	793	c.651C>A	c.(649-651)gtC>gtA	p.V217V		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	217						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCTCAGCTGTCGATCCTGTGG	0.498													108	148					3.11409e-38	1.89695e-37	1	0	A	103274384	C	A	103274384	2	1	110	1	0	0	0	0	0	0	0	1	14800	871	31	3		3	SLC9A2	2	103274384	Silent	SNP	C	TCGA-CN-6997-01A-11D-2012-08	23888521	103274384	139924989	18	20971											
SAP130	79595	broad.mit.edu	37	chr2	128747419	128747419	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtctgagctgtgatggcaGagtttggagcctgagctgaa	9	10	15	7	0	1	5	0	4	1	1	1	6	1	6	1	2	3	4	1	2	1	1			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:128747419G>C	ENST00000357702.5	-	13	1708	c.1577C>G	c.(1576-1578)tCt>tGt	p.S526C	SAP130_ENST00000259235.3_Missense_Mutation_p.S526C|SAP130_ENST00000259234.6_Missense_Mutation_p.S500C	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	526					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGTGATGGCAGAGTTTGGAGC	0.443													19	29					0	0	0	0	C	128747419	G	C	128747419	3	2	110	1	0	0	0	0	1	0	0	0	13916	942	33	2	1710	2	SAP130	2	128747419	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	25473035	128747419	114451954	19	20972											
NEB	4703	broad.mit.edu	37	chr2	152534129	152534129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggaccataactggggagtCcacaatgctggtaaatttga	12	10	11	8	0	0	1	0	1	0	0	1	3	1	3	2	4	2	2	2	4	4	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:152534129C>A	ENST00000397345.3	-	34	3926	c.3724G>T	c.(3724-3726)Gac>Tac	p.D1242Y	NEB_ENST00000172853.10_Missense_Mutation_p.D1242Y|NEB_ENST00000604864.1_Missense_Mutation_p.D1242Y|NEB_ENST00000409198.1_Missense_Mutation_p.D1242Y|NEB_ENST00000427231.2_Missense_Mutation_p.D1242Y|NEB_ENST00000603639.1_Missense_Mutation_p.D1242Y	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1242					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTGGGGAGTCCACAATGCTG	0.443													35	74					3.90053e-15	2.24401e-14	1	0	A	152534129	C	A	152534129	3	1	110	1	0	0	0	0	1	0	0	0	10372	855	30	2	22558	2	NEB	2	152534129	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	23786710	152534129	90665244	20	20973											
XIRP2	129446	broad.mit.edu	37	chr2	168103945	168103945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttagtagaagaaagaactGaggttaatcttccaaaagcc	17	10	8	6	0	1	4	0	1	1	3	2	4	2	4	2	1	2	2	2	1	8	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:168103945G>C	ENST00000409195.1	+	9	6132	c.6043G>C	c.(6043-6045)Gag>Cag	p.E2015Q	XIRP2_ENST00000409273.1_Missense_Mutation_p.E1793Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2015Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1840					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						AGAAAGAACTGAGGTTAATCT	0.438													24	30					0	0	0	0	C	168103945	G	C	168103945	3	2	110	1	0	0	0	0	1	0	0	0	17526	1291	45	2	6073	2	XIRP2	2	168103945	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	15569816	168103945	75095428	21	20974											
G6PC2	57818	broad.mit.edu	37	chr2	169764494	169764494	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttattttatgtgctgtctTtttgtaaaagtgcatccatt	9	21	6	5	0	1	0	0	0	1	0	2	0	2	0	1	0	2	3	1	0	4	8			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:169764494T>A	ENST00000375363.3	+	5	1065	c.973T>A	c.(973-975)Ttt>Att	p.F325I	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	325					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TGTGCTGTCTTTTTGTAAAAG	0.433													23	138					0	0	0	0	A	169764494	T	A	169764494	3	1	110	1	0	0	0	0	1	0	0	0	6192	1841	64	5	991	5	G6PC2	2	169764494	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	1660549	169764494	73434879	22	20975											
TTN	7273	broad.mit.edu	37	chr2	179443989	179443989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctagtgtcagttgctagagGatcttcccctttcttccagg	6	15	9	11	0	4	1	1	0	3	1	6	2	6	2	3	2	1	2	3	2	2	6			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:179443989G>T	ENST00000589042.1	-	320	67992	c.67768C>A	c.(67768-67770)Cct>Act	p.P22590T	TTN_ENST00000342175.6_Missense_Mutation_p.P13717T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P20949T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13650T|TTN_ENST00000460472.2_Missense_Mutation_p.P13525T|TTN_ENST00000342992.6_Missense_Mutation_p.P20022T|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20949	Fibronectin type-III 64.						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)			GTTGCTAGAGGATCTTCCCCT	0.433													39	63					1.58521e-26	9.41027e-26	1	0	T	179443989	G	T	179443989	3	4	110	1	0	0	0	0	1	0	0	0	16831	1174	41	2	40383	2	TTN	2	179443989	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	9679495	179443989	63755384	23	20976											
TTN	7273	broad.mit.edu	37	chr2	179452482	179452482	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagggcatcctgctctcactAtgaccagtttcctcatgctg	7	13	8	13	0	2	1	2	1	1	0	5	1	4	1	3	1	2	4	3	1	2	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:179452482A>G	ENST00000589042.1	-	306	63778	c.63554T>C	c.(63553-63555)aTa>aCa	p.I21185T	TTN_ENST00000342175.6_Missense_Mutation_p.I12312T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I19544T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I12245T|TTN_ENST00000460472.2_Missense_Mutation_p.I12120T|TTN_ENST00000342992.6_Missense_Mutation_p.I18617T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19544	Fibronectin type-III 53.						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)			TGCTCTCACTATGACCAGTTT	0.433													24	41					0	0	0	0	G	179452482	A	G	179452482	3	3	110	1	0	0	0	0	1	0	0	0	16831	449	16	5	44653	5	TTN	2	179452482	Missense_Mutation	SNP	A	TCGA-CN-6997-01A-11D-2012-08	8493	179452482	63746891	24	20977											
TTN	7273	broad.mit.edu	37	chr2	179604933	179604933	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgttgtcagaatgctcttCtttgagcagtacctgctttt	7	16	8	10	1	3	2	1	1	2	1	3	2	3	2	1	0	4	5	1	0	2	6			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:179604933C>G	ENST00000589042.1	-	48	13251	c.13027G>C	c.(13027-13029)Gaa>Caa	p.E4343Q	TTN_ENST00000342175.6_Missense_Mutation_p.E4172Q|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4026Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4105Q|TTN_ENST00000460472.2_Missense_Mutation_p.E3980Q|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4026	Ig-like 23.						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)			GAATGCTCTTCTTTGAGCAGT	0.473													52	72					0	0	0	0	G	179604933	C	G	179604933	3	3	110	1	0	0	0	0	1	0	0	0	16831	922	32	2	91762	2	TTN	2	179604933	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	152451	179604933	63594440	25	20978											
ITGAV	3685	broad.mit.edu	37	chr2	187506311	187506311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctggaccaggatggtttCaatggtaagatcaaagttta	13	12	11	5	0	3	1	2	0	1	1	3	4	3	3	1	4	0	3	1	4	4	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:187506311C>T	ENST00000261023.3	+	12	1429	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	ITGAV_ENST00000374907.3_Silent_p.F349F|ITGAV_ENST00000433736.2_Silent_p.F339F|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	385					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		AGGATGGTTTCAATGGTAAGA	0.463													59	77					0	0	0	0	T	187506311	C	T	187506311	2	4	110	1	0	0	0	0	0	0	0	1	7941	825	29	2		2	ITGAV	2	187506311	Silent	SNP	C	TCGA-CN-6997-01A-11D-2012-08	7901378	187506311	55693062	26	20979											
TTLL4	9654	broad.mit.edu	37	chr2	219612322	219612322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctttgtcctatgtaggtAtctacacaaaccctacctca	10	12	6	13	0	2	0	1	0	1	0	3	0	3	0	4	2	3	2	4	2	6	6			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:219612322A>G	ENST00000392102.1	+	11	2592	c.2252A>G	c.(2251-2253)tAt>tGt	p.Y751C	TTLL4_ENST00000457313.1_Missense_Mutation_p.Y586C|TTLL4_ENST00000442769.1_Missense_Mutation_p.Y687C|TTLL4_ENST00000258398.4_Missense_Mutation_p.Y751C	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	751	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CTATGTAGGTATCTACACAAA	0.478													54	23					0	0	0	0	G	219612322	A	G	219612322	3	3	110	1	0	0	0	0	1	0	0	0	16825	449	16	5	2286	5	TTLL4	2	219612322	Missense_Mutation	SNP	A	TCGA-CN-6997-01A-11D-2012-08	32106011	219612322	23587051	27	20980											
GRM2	2912	broad.mit.edu	37	chr3	51743449	51743449	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagtgatgtctccatccaGgtacgtggaagccacccaaa	12	8	9	12	1	1	1	0	1	1	0	3	2	2	2	4	2	3	1	4	2	4	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr3:51743449G>A	ENST00000395052.3	+	2	684	c.450_splice	c.e2+1	p.Q150_splice	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Splice_Site_p.Q150_splice	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	150					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TCTCCATCCAGGTACGTGGAA	0.582													6	4					0	0	0	0	A	51743449	G	A	51743449	5	1	110	1	0	0	0	0	0	0	1	0	6847	1014	35	4	452	4	GRM2	3	51743449	Splice_Site	SNP	G	TCGA-CN-6997-01A-11D-2012-08		51743449	146278981	28	20981											
IMPG2	50939	broad.mit.edu	37	chr3	100963028	100963028	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagaggtgctttggtaactGagtaatcatcaacaccaggt	13	11	10	7	0	2	2	2	1	0	1	2	2	2	2	1	3	3	3	1	3	4	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr3:100963028G>C	ENST00000193391.7	-	13	2334	c.2147C>G	c.(2146-2148)tCa>tGa	p.S716*		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	716					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTGGTAACTGAGTAATCATC	0.473													14	7					0	0	0	0	C	100963028	G	C	100963028	4	2	110	1	0	0	0	0	0	1	0	0	7782	1294	45	2	1606	2	IMPG2	3	100963028	Nonsense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	49219579	100963028	97059402	29	20982											
KIAA1407	57577	broad.mit.edu	37	chr3	113721347	113721347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctctgccaagatccGcctacattcagctcgttgaa	8	13	6	14	2	3	2	1	1	2	1	6	2	4	2	3	0	3	2	3	0	3	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr3:113721347G>A	ENST00000295878.3	-	12	2163	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	673										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCAAGATCCGCCTACATTCA	0.328													38	8					0	0	0	0	A	113721347	G	A	113721347	3	1	110	1	0	0	0	0	1	0	0	0	8280	1086	38	1	817	1	KIAA1407	3	113721347	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	12758319	113721347	84301083	30	20983											
SLCO2A1	6578	broad.mit.edu	37	chr3	133666147	133666147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggtggagcatcccatgaaGaacaaaggaacacaaaggat	17	4	13	7	0	0	2	0	1	0	1	1	5	1	5	1	5	3	1	1	5	5	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr3:133666147G>C	ENST00000310926.4	-	9	1521	c.1248C>G	c.(1246-1248)ttC>ttG	p.F416L	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.F340L	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	416					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						ATCCCATGAAGAACAAAGGAA	0.493													36	55					0	0	0	0	C	133666147	G	C	133666147	3	2	110	1	0	0	0	0	1	0	0	0	14814	933	33	2	707	2	SLCO2A1	3	133666147	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	19944800	133666147	64356283	31	20984											
ACPL2	92370	broad.mit.edu	37	chr3	140998227	140998227	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctctcgcgcaggtcatgcCccgcatcattttaagctggt	6	13	9	13	3	3	0	2	0	1	0	5	0	3	0	2	2	2	3	2	2	1	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr3:140998227C>T	ENST00000508812.1	+	3	2126	c.219C>T	c.(217-219)gcC>gcT	p.A73A	ACPL2_ENST00000393010.2_Silent_p.A82A|ACPL2_ENST00000286353.4_Silent_p.A82A|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Silent_p.A44A|ACPL2_ENST00000393007.1_Silent_p.A66A|ACPL2_ENST00000504264.1_Silent_p.A65A			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	82						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CAGGTCATGCCCCGCATCATT	0.498											OREG0015847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	145	28					0	0	0	0	T	140998227	C	T	140998227	2	4	110	1	0	0	0	0	0	0	0	1	166	610	22	4		4	ACPL2	3	140998227	Silent	SNP	C	TCGA-CN-6997-01A-11D-2012-08	7332080	140998227	57024203	32	20985											
ECE2	9718	broad.mit.edu	37	chr3	183995809	183995809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgcattgaggagctgggagCccagccactgagagacctca	10	5	14	12	1	1	3	1	2	0	1	1	6	1	5	3	2	3	2	3	2	0	1			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr3:183995809C>A	ENST00000402825.3	+	5	929	c.929C>A	c.(928-930)gCc>gAc	p.A310D	ECE2_ENST00000357474.5_Missense_Mutation_p.A238D|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.A192D|ECE2_ENST00000359140.4_Missense_Mutation_p.A163D	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	310	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGCTGGGAGCCCAGCCACTG	0.577													120	13					1.37143e-49	8.40906e-49	1	0	A	183995809	C	A	183995809	3	1	110	1	0	0	0	0	1	0	0	0	4926	739	26	4	1511	4	ECE2	3	183995809	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	42997582	183995809	14026621	33	20986											
TIFA	92610	broad.mit.edu	37	chr4	113199415	113199415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtataatgacagatgttgGaatttcggccaaatttcacc	14	12	8	7	1	1	2	1	1	0	1	2	3	1	3	2	2	0	2	2	2	5	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr4:113199415G>A	ENST00000361717.2	-	2	439	c.158C>T	c.(157-159)tCc>tTc	p.S53F	TIFA_ENST00000500655.2_Missense_Mutation_p.S53F	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	53	FHA.						protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		ACAGATGTTGGAATTTCGGCC	0.403													41	24					0	0	0	0	A	113199415	G	A	113199415	3	1	110	1	0	0	0	0	1	0	0	0	15988	1174	41	2	400	2	TIFA	4	113199415	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08		113199415	77954861	34	20987											
USP38	84640	broad.mit.edu	37	chr4	144106780	144106780	+	Frame_Shift_Del	DEL	G	G	-																															caggaccctttccagcggcaGgtggggcaccaggtgctgga																										TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr4:144106780delG	ENST00000307017.4	+	1	683	c.177delG	c.(175-177)cafs	p.Q59fs	USP38_ENST00000510377.1_Frame_Shift_Del_p.Q59fs	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	59					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TCCAGCGGCAGGTGGGGCACC	0.627													17	9	---	---	---	---					-	144106780	G	-	144106780	7	5	110	1	0	1	0	1	0	0	0	0	17165	991	35	0	179	0	USP38	4	144106780	Frame_Shift_Del	DEL	G	TCGA-CN-6997-01A-11D-2012-08	30907365	144106780	47047496	35	20988											
ADCY2	108	broad.mit.edu	37	chr5	7789843	7789843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatggagaacctgaaccGcgtgctgctggagaacgtgc	10	6	14	11	3	0	3	0	1	0	2	0	6	0	3	3	2	6	2	3	2	3	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr5:7789843G>A	ENST00000338316.4	+	20	2647	c.2558G>A	c.(2557-2559)cGc>cAc	p.R853H	ADCY2_ENST00000537121.1_Missense_Mutation_p.R673H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	853					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AACCTGAACCGCGTGCTGCTG	0.532													35	77					0	0	0	0	A	7789843	G	A	7789843	3	1	110	1	0	0	0	0	1	0	0	0	294	1087	38	1	2636	1	ADCY2	5	7789843	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08		7789843	173125417	36	20989											
PRDM9	56979	broad.mit.edu	37	chr5	23526620	23526620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagagggagatttcaaggGccttttctagcccacccaaa	11	8	11	11	0	2	2	1	0	1	2	2	3	2	2	3	3	1	1	3	3	3	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr5:23526620G>A	ENST00000296682.3	+	11	1605	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	475					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GATTTCAAGGGCCTTTTCTAG	0.453										HNSCC(3;0.000094)			10	23					0	0	0	0	A	23526620	G	A	23526620	3	1	110	1	0	0	0	0	1	0	0	0	12543	1203	42	4	1461	4	PRDM9	5	23526620	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	15736777	23526620	157388640	37	20990											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812032	140812032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtaccccgccctccccaCggacggttccactggcgtgg	4	7	11	19	4	0	0	0	0	0	0	2	1	2	1	7	4	1	2	7	4	1	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr5:140812032C>T	ENST00000252085.3	+	1	1848	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTCCCCACGGACGGTTCC	0.677													91	42					0	0	0	0	T	140812032	C	T	140812032	3	4	110	1	0	0	0	0	1	0	0	0	11624	536	19	1	1708	1	PCDHGA12	5	140812032	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	117285412	140812032	40103228	38	20991											
SLIT3	6586	broad.mit.edu	37	chr5	168112761	168112761	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtaggagtctttgcccacGaagttgacagtgatgagctt	10	11	12	8	2	1	3	0	3	1	0	1	5	1	4	1	1	2	3	1	1	2	4	rs148625020		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr5:168112761G>A	ENST00000519560.1	-	31	3905	c.3486C>T	c.(3484-3486)ttC>ttT	p.F1162F	SLIT3_ENST00000332966.8_Silent_p.F1169F|SLIT3_ENST00000404867.3_Silent_p.F1162F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1162	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.F1162F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTGCCCACGAAGTTGACAG	0.657													24	14					0	0	0	0	A	168112761	G	A	168112761	2	1	110	1	0	0	0	0	0	0	0	1	14829	1049	37	1		1	SLIT3	5	168112761	Silent	SNP	G	TCGA-CN-6997-01A-11D-2012-08	27300729	168112761	12802499	39	20992											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216820	26216831	+	In_Frame_Del	DEL	CCTTCTTGGAAC	CCTTCTTGGAAC	-																															cttctgcgccttggtcacagCcttcttggaacccttcttcg																								rs143774290		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr6:26216820_26216831delCCTTCTTGGAAC	ENST00000244601.3	-	1	41_52	c.41_52delGTTCCAAGAAGG	c.(40-54)gct>g	p.GSKKA14del		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	14					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.K17E(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TTGGTCACAGCCTTCTTGGAACCCTTCTTCGG	0.491													32	48	---	---	---	---					-	26216831	CCTTCTTGGAAC	-	26216820	7	5	110	1	0	1	0	1	0	0	0	0	7196	739	26	0	332	0	HIST1H2BG	6	26216820	In_Frame_Del	DEL	CCTTCTTGGAAC	TCGA-CN-6997-01A-11D-2012-08		26216820	144898247	40	20993											
RNF39	80352	broad.mit.edu	37	chr6	30043353	30043353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccccgggcccagctcggGcgcatccatggaaagccagg	8	3	14	16	3	0	0	0	0	0	0	2	1	1	1	5	4	3	2	5	4	1	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr6:30043353G>A	ENST00000244360.6	-	1	311	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	RNF39_ENST00000376751.3_Missense_Mutation_p.P72S	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	72						cytoplasm	zinc ion binding										CCCAGCTCGGGCGCATCCATG	0.711													10	7					0	0	0	0	A	30043353	G	A	30043353	3	1	110	1	0	0	0	0	1	0	0	0	13576	1203	42	4	1064	4	RNF39	6	30043353	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	3826533	30043353	141071714	41	20994											
ROS1	6098	broad.mit.edu	37	chr6	117658469	117658469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcaggaccttggctgcatGaagttttaacatggtaaaac	14	10	10	7	0	0	1	0	1	0	0	0	2	0	2	1	3	4	5	1	3	5	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr6:117658469G>A	ENST00000368508.3	-	31	5312	c.5114C>T	c.(5113-5115)tCa>tTa	p.S1705L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S1699L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1705	Fibronectin type-III 8.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGGCTGCATGAAGTTTTAAC	0.308			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								30	35					0	0	0	0	A	117658469	G	A	117658469	3	1	110	1	0	0	0	0	1	0	0	0	13616	1294	45	2	1981	2	ROS1	6	117658469	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	87615116	117658469	53456598	42	20995											
SERINC1	57515	broad.mit.edu	37	chr6	122766322	122766322	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatctcacgagagggttcaTacctaaaatttcagggaaaa	15	10	8	8	1	4	1	4	0	1	1	5	3	4	2	1	2	1	1	1	2	5	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr6:122766322T>C	ENST00000368454.1	-	12	1558	c.1229A>G	c.(1228-1230)tAt>tGt	p.Y410C	SERINC1_ENST00000339697.3_Missense_Mutation_p.Y410C			Q9NRX5	SERC1_HUMAN	serine incorporator 1	410					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AGAGGGTTCATACCTAAAATT	0.428													17	15					0	0	0	0	C	122766322	T	C	122766322	3	2	110	1	0	0	0	0	1	0	0	0	14166	1406	49	5	136	5	SERINC1	6	122766322	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	5107853	122766322	48348745	43	20996											
LAMA2	3908	broad.mit.edu	37	chr6	129826387	129826387	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaggaattctttatgtaGatggggcttccaacagaacc	14	10	10	7	0	1	3	0	0	1	3	2	4	2	4	2	3	2	2	2	3	7	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr6:129826387G>C	ENST00000421865.2	+	61	8639	c.8590G>C	c.(8590-8592)Gat>Cat	p.D2864H		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2864	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCTTTATGTAGATGGGGCTTC	0.413													34	35					0	0	0	0	C	129826387	G	C	129826387	3	2	110	1	0	0	0	0	1	0	0	0	8659	942	33	2	8832	2	LAMA2	6	129826387	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	7060065	129826387	41288680	44	20997											
SAMD3	154075	broad.mit.edu	37	chr6	130505272	130505272	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccacagccatcctcatccagGaaagggtgggcctgcagcag	10	5	12	14	0	1	0	1	0	0	0	3	1	3	1	5	3	3	2	5	3	1	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr6:130505272G>A	ENST00000532763.1	-	6	753	c.624C>T	c.(622-624)ttC>ttT	p.F208F	SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Silent_p.F210F|SAMD3_ENST00000324172.6_Silent_p.F210F|SAMD3_ENST00000439090.2_Silent_p.F210F|SAMD3_ENST00000368134.2_Silent_p.F210F|SAMD3_ENST00000457563.2_Silent_p.F234F			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	210										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CCTCATCCAGGAAAGGGTGGG	0.468													26	34					0	0	0	0	A	130505272	G	A	130505272	2	1	110	1	0	0	0	0	0	0	0	1	13905	1165	41	2		2	SAMD3	6	130505272	Silent	SNP	G	TCGA-CN-6997-01A-11D-2012-08	678885	130505272	40609795	45	20998											
BCLAF1	9774	broad.mit.edu	37	chr6	136582515	136582515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagtccatttaggactgctaCctgattttttgaagttaaag	11	15	9	6	0	0	2	0	2	0	0	1	4	1	3	2	1	2	2	2	1	5	7			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr6:136582515C>A	ENST00000531224.1	-	12	2897	c.2645G>T	c.(2644-2646)gGt>gTt	p.G882V	BCLAF1_ENST00000527759.1_Missense_Mutation_p.G880V|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G833V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G831V|BCLAF1_ENST00000031135.9_Missense_Mutation_p.G100V|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G831V|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G709V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	882					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGGACTGCTACCTGATTTTTT	0.438													55	245					3.4597e-24	2.02795e-23	1	0	A	136582515	C	A	136582515	3	1	110	1	0	0	0	0	1	0	0	0	1387	507	18	4	125	4	BCLAF1	6	136582515	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	6077243	136582515	34532552	46	20999											
ZNF716	441234	broad.mit.edu	37	chr7	57529191	57529191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcctcaacccttaagaaaCataagatagttcatactggg	15	11	6	9	0	2	2	2	0	0	2	3	2	3	2	2	1	3	1	2	1	7	6			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:57529191C>T	ENST00000420713.1	+	4	1136	c.1024C>T	c.(1024-1026)Cat>Tat	p.H342Y		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CCTTAAGAAACATAAGATAGT	0.388													30	16					0	0	0	0	T	57529191	C	T	57529191	3	4	110	1	0	0	0	0	1	0	0	0	18214	478	17	4	1038	4	ZNF716	7	57529191	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08		57529191	101609472	47	21000											
POM121	9883	broad.mit.edu	37	chr7	72413673	72413673	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagccacggcttcggccttCggcgctcccgccagctcaca	7	6	10	18	5	1	0	1	0	0	0	4	0	2	0	4	3	2	3	4	3	1	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:72413673C>T	ENST00000395270.1	+	14	3387	c.2346C>T	c.(2344-2346)ttC>ttT	p.F782F	POM121_ENST00000257622.4_Silent_p.F782F|POM121_ENST00000358357.3_Silent_p.F782F|POM121_ENST00000446813.1_Silent_p.F782F|POM121_ENST00000434423.2_Silent_p.F1047F	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1047	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTTCGGCCTTCGGCGCTCCCG	0.647													7	199					0	0	0	0	T	72413673	C	T	72413673	2	4	110	1	0	0	0	0	0	0	0	1	12311	883	31	1		1	POM121	7	72413673	Silent	SNP	C	TCGA-CN-6997-01A-11D-2012-08	14884482	72413673	86724990	48	21001											
GRM3	2913	broad.mit.edu	37	chr7	86493648	86493648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaatgggcgggaagtcctcGactccaccacctcatctctg	8	8	10	15	2	2	0	1	0	1	0	6	2	4	1	4	2	0	1	4	2	2	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:86493648G>A	ENST00000361669.2	+	6	3716	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N	GRM3_ENST00000439827.1_Missense_Mutation_p.R517Q|GRM3_ENST00000536043.1_Missense_Mutation_p.D745N|GRM3_ENST00000394720.2_Missense_Mutation_p.R515Q|GRM3_ENST00000546348.1_Missense_Mutation_p.D465N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	873					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGAAGTCCTCGACTCCACCAC	0.468													73	122					0	0	0	0	A	86493648	G	A	86493648	3	1	110	1	0	0	0	0	1	0	0	0	6848	1058	37	1	2635	1	GRM3	7	86493648	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	14079975	86493648	72645015	49	21002											
STEAP4	79689	broad.mit.edu	37	chr7	87910251	87910251	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggacaaatcggaactctctCcagttgactgcattgctaac	11	11	8	11	1	1	1	0	1	1	0	4	3	2	3	1	2	4	3	1	2	3	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:87910251C>T	ENST00000380079.4	-	4	1229	c.1128G>A	c.(1126-1128)tgG>tgA	p.W376*	AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Nonsense_Mutation_p.W200*|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	376	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GGAACTCTCTCCAGTTGACTG	0.378													45	110					0	0	0	0	T	87910251	C	T	87910251	4	4	110	1	0	0	0	0	0	1	0	0	15370	856	30	2	259	2	STEAP4	7	87910251	Nonsense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	1416603	87910251	71228412	50	21003											
BHLHA15	168620	broad.mit.edu	37	chr7	97841820	97841820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggaccctccgggcccGgtggccgtcgtgacagcagc	5	4	16	16	4	0	1	0	1	0	0	2	2	1	2	5	5	2	1	5	5	0	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:97841820G>A	ENST00000314018.2	+	1	255	c.199G>A	c.(199-201)Ggt>Agt	p.G67S		NM_177455.3	NP_803238.1	Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CTCCGGGCCCGGTGGCCGTCG	0.736													6	10					0	0	0	0	A	97841820	G	A	97841820	3	1	110	1	0	0	0	0	1	0	0	0	1424	1116	39	1	201	1	BHLHA15	7	97841820	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	9931569	97841820	61296843	51	21004											
ZNF394	84124	broad.mit.edu	37	chr7	99097557	99097557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggtccggcgaagccgcggGatagttgggctcccaacttc	6	7	16	12	4	0	0	0	0	0	0	3	2	2	1	3	5	2	2	3	5	3	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:99097557G>T	ENST00000337673.6	-	1	363	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.P54T|ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	54					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GAAGCCGCGGGATAGTTGGGC	0.642													43	50					1.15183e-24	6.79435e-24	1	0	T	99097557	G	T	99097557	3	4	110	1	0	0	0	0	1	0	0	0	17975	1174	41	2	1537	2	ZNF394	7	99097557	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	1255737	99097557	60041106	52	21005											
LAMB4	22798	broad.mit.edu	37	chr7	107696109	107696109	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgataatccttgacttttaaGaatttcccagatgggaaaac	14	13	7	7	0	0	4	0	2	0	2	2	5	2	5	2	1	1	0	2	1	5	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:107696109G>C	ENST00000388781.3	-	25	3806	c.3723C>G	c.(3721-3723)ttC>ttG	p.F1241L	LAMB4_ENST00000205386.4_Missense_Mutation_p.F1241L|LAMB4_ENST00000388780.3_Missense_Mutation_p.F1241L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1241	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGACTTTTAAGAATTTCCCAG	0.413													49	101					0	0	0	0	C	107696109	G	C	107696109	3	2	110	1	0	0	0	0	1	0	0	0	8666	933	33	2	1602	2	LAMB4	7	107696109	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	8598552	107696109	51442554	53	21006											
DOCK4	9732	broad.mit.edu	37	chr7	111540505	111540505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgggaagtttcagcagttCagaccacctgggactgttgt	10	11	12	8	0	2	1	2	0	0	1	2	3	2	3	2	2	1	4	2	2	2	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:111540505C>T	ENST00000428084.1	-	15	1677	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.E469K			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	469	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTCAGCAGTTCAGACCACCTG	0.498													14	15					0	0	0	0	T	111540505	C	T	111540505	3	4	110	1	0	0	0	0	1	0	0	0	4725	835	29	2	4647	2	DOCK4	7	111540505	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	3844396	111540505	47598158	54	21007											
TFEC	22797	broad.mit.edu	37	chr7	115624462	115624462	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaggttgtgaccatttaaGagttggattgatgatctgat	10	15	12	4	0	1	5	0	4	1	1	1	6	1	6	1	2	1	3	1	2	1	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:115624462G>C	ENST00000265440.7	-	2	214	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V	TFEC_ENST00000320239.7_Missense_Mutation_p.L12V|TFEC_ENST00000393485.1_Missense_Mutation_p.L12V|TFEC_ENST00000484212.1_Missense_Mutation_p.L102V	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	12	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.L12V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GACCATTTAAGAGTTGGATTG	0.493													54	108					0	0	0	0	C	115624462	G	C	115624462	3	2	110	1	0	0	0	0	1	0	0	0	15896	942	33	2	1037	2	TFEC	7	115624462	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	4083957	115624462	43514201	55	21008											
TUSC3	7991	broad.mit.edu	37	chr8	15601046	15601046	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccttgacaactactgcaGatgccgctatcaccatgggg	9	10	9	13	1	1	2	1	1	0	1	2	2	2	2	3	2	4	2	3	2	3	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr8:15601046G>T	ENST00000382020.4	+	8	1070		c.e8-1		TUSC3_ENST00000506802.1_Splice_Site|TUSC3_ENST00000503731.1_Splice_Site	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3						cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		AACTACTGCAGATGCCGCTAT	0.403													23	137					5.35356e-11	3.02395e-10	1	0	T	15601046	G	T	15601046	5	4	110	1	0	0	0	0	0	0	1	0	16874	956	33	2	892	2	TUSC3	8	15601046	Splice_Site	SNP	G	TCGA-CN-6997-01A-11D-2012-08		15601046	130762976	56	21009											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457673	110457673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaaatggcttctatccaGgcaacactacagtcactatt	13	10	7	11	0	2	0	1	0	1	0	3	1	3	1	1	3	2	2	1	3	5	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr8:110457673G>T	ENST00000378402.5	+	38	5679	c.5575G>T	c.(5575-5577)Ggc>Tgc	p.G1859C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1859	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTCTATCCAGGCAACACTAC	0.502										HNSCC(38;0.096)			39	7					6.97489e-18	4.03764e-17	1	0	T	110457673	G	T	110457673	3	4	110	1	0	0	0	0	1	0	0	0	12044	1000	35	4	5725	4	PKHD1L1	8	110457673	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	94856627	110457673	35906349	57	21010											
FAM84B	157638	broad.mit.edu	37	chr8	127569333	127569333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtaggtactcagcgccgccGagcccggcgcgaagctcttc	6	7	13	15	6	2	0	1	0	1	0	3	2	2	0	3	2	4	3	3	2	3	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr8:127569333G>A	ENST00000304916.3	-	2	757	c.302C>T	c.(301-303)tCg>tTg	p.S101L	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	101						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			CAGCGCCGCCGAGCCCGGCGC	0.657													31	17					0	0	0	0	A	127569333	G	A	127569333	3	1	110	1	0	0	0	0	1	0	0	0	5688	1059	37	1	634	1	FAM84B	8	127569333	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	17111660	127569333	18794689	58	21011											
CDKN2A	1029	broad.mit.edu	37	chr9	21971098	21971098	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtccaggaagccctccCgggcagcgtcgtgcacgggt	5	6	16	14	5	0	0	0	0	0	0	3	1	2	1	3	3	3	2	3	3	1	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr9:21971098C>G	ENST00000304494.5	-	2	530	c.260G>C	c.(259-261)cGg>cCg	p.R87P	CDKN2A_ENST00000494262.1_Missense_Mutation_p.R36P|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R87P|CDKN2A_ENST00000361570.3_Silent_p.P142P|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R87P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R36P|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R36P|CDKN2A_ENST00000579755.1_Silent_p.P101P|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R36P|CDKN2A_ENST00000530628.2_Silent_p.P101P|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R36P|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R87P	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	87			R -> P (in CMM2; impairs the function).|R -> W (in CMM2; partial loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.R87L(1)|p.E61_L94del(1)|p.R87Q(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GAAGCCCTCCCGGGCAGCGTC	0.751		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	3					0	0	0	0	G	21971098	C	G	21971098	3	3	110	1	0	0	0	0	1	0	0	0	3190	652	23	3	218	3	CDKN2A	9	21971098	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08		21971098	119242333	59	21012											
KIAA1161	57462	broad.mit.edu	37	chr9	34371549	34371549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcaggtagctgacctcgcCcgcgtcgaacttgaaggaag	9	6	14	12	5	0	2	0	2	0	0	2	4	0	3	2	3	2	3	2	3	4	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr9:34371549C>G	ENST00000297625.7	-	2	1516	c.1291G>C	c.(1291-1293)Ggc>Cgc	p.G431R		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	465					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CTGACCTCGCCCGCGTCGAAC	0.672													2	7					0	0	0	0	G	34371549	C	G	34371549	3	3	110	1	0	0	0	0	1	0	0	0	8262	623	22	4	755	4	KIAA1161	9	34371549	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	12400451	34371549	106841882	60	21013											
TMEM2	23670	broad.mit.edu	37	chr9	74332991	74332991	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttgcatcctgatgaggtcGaaatctaggggttaaaaaaa	14	11	11	5	1	1	2	0	2	1	0	3	3	2	2	1	3	1	3	1	3	6	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr9:74332991G>A	ENST00000377044.4	-	13	2811	c.2272C>T	c.(2272-2274)Cga>Tga	p.R758*	TMEM2_ENST00000377066.5_Nonsense_Mutation_p.R695*	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	758						integral to membrane		p.R758*(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGATGAGGTCGAAATCTAGGG	0.338													27	37					0	0	0	0	A	74332991	G	A	74332991	4	1	110	1	0	0	0	0	0	1	0	0	16215	1066	37	1	1927	1	TMEM2	9	74332991	Nonsense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	39961442	74332991	66880440	61	21014											
VPS13A	23230	broad.mit.edu	37	chr9	79853254	79853254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatctagcacagctcactGcagcaactttgacaaaactg	14	9	6	12	0	2	1	1	1	1	0	2	1	2	1	0	0	7	4	0	0	5	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr9:79853254G>T	ENST00000360280.3	+	19	2112	c.1852G>T	c.(1852-1854)Gca>Tca	p.A618S	VPS13A_ENST00000376636.3_Missense_Mutation_p.A618S|VPS13A_ENST00000357409.5_Missense_Mutation_p.A618S|VPS13A_ENST00000376634.4_Missense_Mutation_p.A618S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	618					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAGCTCACTGCAGCAACTTT	0.348													29	39					3.48256e-35	2.09403e-34	1	0	T	79853254	G	T	79853254	3	4	110	1	0	0	0	0	1	0	0	0	17285	1319	46	4	1926	4	VPS13A	9	79853254	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	5520263	79853254	61360177	62	21015											
ASTN2	23245	broad.mit.edu	37	chr9	119976967	119976967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgccaacgtcgctgggCgtacagcgccacggtgaaca	8	7	12	14	5	1	1	0	1	1	0	2	1	1	1	2	2	5	2	2	2	3	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr9:119976967C>T	ENST00000313400.4	-	3	785	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	ASTN2_ENST00000361209.2_Missense_Mutation_p.A229T|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.A229T			O75129	ASTN2_HUMAN	astrotactin 2	229			A -> V (found in a clear cell renal carcinoma case; somatic mutation).			integral to membrane		p.A229T(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGTCGCTGGGCGTACAGCGCC	0.607													31	36					0	0	0	0	T	119976967	C	T	119976967	3	4	110	1	0	0	0	0	1	0	0	0	1069	768	27	1	3493	1	ASTN2	9	119976967	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	40123713	119976967	21236464	63	21016											
NAIF1	203245	broad.mit.edu	37	chr9	130829161	130829161	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggacctcggtcttgaggtCagaccacttcttcttgacct	7	12	9	13	2	4	3	1	2	3	1	5	4	4	4	3	3	0	0	3	3	0	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr9:130829161C>G	ENST00000373078.4	-	1	439	c.220G>C	c.(220-222)Gac>Cac	p.D74H		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	74					apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTCTTGAGGTCAGACCACTTC	0.697													83	12					0	0	0	0	G	130829161	C	G	130829161	3	3	110	1	0	0	0	0	1	0	0	0	10216	826	29	2	771	2	NAIF1	9	130829161	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	10852194	130829161	10384270	64	21017											
MYO3A	53904	broad.mit.edu	37	chr10	26377179	26377179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttacaagtgaacaatttGgtagaagcctttggcaatgc	13	13	9	6	0	0	2	0	1	0	1	0	2	0	2	1	2	4	2	1	2	7	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr10:26377179G>T	ENST00000265944.5	+	15	1573	c.1407G>T	c.(1405-1407)ttG>ttT	p.L469F	MYO3A_ENST00000543632.1_Missense_Mutation_p.L469F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	469	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGAACAATTTGGTAGAAGCCT	0.303													15	21					3.45872e-05	0.000184201	1	0	T	26377179	G	T	26377179	3	4	110	1	0	0	0	0	1	0	0	0	10146	1339	47	4	1457	4	MYO3A	10	26377179	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08		26377179	109157568	65	21018											
CCAR1	55749	broad.mit.edu	37	chr10	70514524	70514524	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatatcataagtcatgtgcTcttgctgaggacccacaaga	12	12	8	9	0	3	2	2	1	1	1	3	3	3	3	1	1	2	2	1	1	4	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr10:70514524T>A	ENST00000265872.6	+	12	1517	c.1398T>A	c.(1396-1398)gcT>gcA	p.A466A	CCAR1_ENST00000535016.1_Silent_p.A451A|CCAR1_ENST00000543719.1_Silent_p.A451A	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	466					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGTCATGTGCTCTTGCTGAGG	0.358													32	44					0	0	0	0	A	70514524	T	A	70514524	2	1	110	1	0	0	0	0	0	0	0	1	2755	1538	54	5		5	CCAR1	10	70514524	Silent	SNP	T	TCGA-CN-6997-01A-11D-2012-08	44137345	70514524	65020223	66	21019											
DDX21	9188	broad.mit.edu	37	chr10	70728814	70728814	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgccaagaaatacatgaaAtctacatatgaacaggtgga	17	9	9	6	0	1	3	0	2	1	1	1	4	1	4	1	2	4	1	1	2	7	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr10:70728814A>G	ENST00000354185.4	+	7	1271	c.1173A>G	c.(1171-1173)aaA>aaG	p.K391K		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	391	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AATACATGAAATCTACATATG	0.363													34	48					0	0	0	0	G	70728814	A	G	70728814	2	3	110	1	0	0	0	0	0	0	0	1	4381	98	4	5		5	DDX21	10	70728814	Silent	SNP	A	TCGA-CN-6997-01A-11D-2012-08	214290	70728814	64805933	67	21020											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362339	105362339	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagctccccaaacctcacaTaccaccacccgctctcctgc	9	6	3	23	1	2	0	1	0	1	0	4	0	3	0	8	0	4	2	8	0	2	1			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr10:105362339T>A	ENST00000369774.4	-	15	2912	c.2636A>T	c.(2635-2637)tAt>tTt	p.Y879F	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.Y851F|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.Y714F|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.Y746F			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	879	SH3 4.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AAACCTCACATACCACCACCC	0.612													29	34					0	0	0	0	A	105362339	T	A	105362339	3	1	110	1	0	0	0	0	1	0	0	0	14344	1406	49	5	769	5	SH3PXD2A	10	105362339	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	34633525	105362339	30172408	68	21021											
GRK5	2869	broad.mit.edu	37	chr10	121207759	121207759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccgggatgttggaccctcCcttcgttccagacgtgagta	7	10	12	12	3	0	2	0	1	0	1	3	4	2	4	4	2	1	3	4	2	1	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr10:121207759C>T	ENST00000392870.2	+	13	1720	c.1391C>T	c.(1390-1392)cCc>cTc	p.P464L	GRK5_ENST00000369108.3_Missense_Mutation_p.P359L	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	464	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TTGGACCCTCCCTTCGTTCCA	0.627													70	100					0	0	0	0	T	121207759	C	T	121207759	3	4	110	1	0	0	0	0	1	0	0	0	6842	623	22	4	1441	4	GRK5	10	121207759	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	15845420	121207759	14326988	69	21022											
BAG3	9531	broad.mit.edu	37	chr10	121411327	121411327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccacaacagccgcaccaCtacgtggaacgacccgcgcg	11	2	11	17	6	0	0	0	0	0	0	0	3	0	2	4	2	4	1	4	2	3	1			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr10:121411327C>T	ENST00000369085.3	+	1	446	c.140C>T	c.(139-141)aCt>aTt	p.T47I		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	47	WW 1.				anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AGCCGCACCACTACGTGGAAC	0.726													24	17					0	0	0	0	T	121411327	C	T	121411327	3	4	110	1	0	0	0	0	1	0	0	0	1292	565	20	4	142	4	BAG3	10	121411327	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	203568	121411327	14123420	70	21023											
CDHR5	53841	broad.mit.edu	37	chr11	621106	621106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccgtggggacagcccCgtggtactgagcttgaatgc	6	8	15	12	2	0	2	0	2	0	0	0	3	0	3	4	3	5	2	4	3	2	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:621106C>T	ENST00000358353.3	-	8	1085	c.763G>A	c.(763-765)Ggg>Agg	p.G255R	CDHR5_ENST00000397542.2_Missense_Mutation_p.G255R|CDHR5_ENST00000349570.7_Missense_Mutation_p.G255R			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	255	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGGACAGCCCCGTGGTACTGA	0.652													24	29					0	0	0	0	T	621106	C	T	621106	3	4	110	1	0	0	0	0	1	0	0	0	3151	652	23	1	1810	1	CDHR5	11	621106	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08		621106	134385410	71	21024											
MUC5B	727897	broad.mit.edu	37	chr11	1261156	1261156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaagggtccccacagcGgagaactgccagagctggtg	9	5	16	11	1	0	2	0	0	0	2	1	3	1	2	3	4	5	2	3	4	2	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:1261156G>A	ENST00000447027.1	+	28	3778	c.3720G>A	c.(3718-3720)gcG>gcA	p.A1240A	MUC5B_ENST00000529681.1_Silent_p.A1237A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1237	Cys-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCCCACAGCGGAGAACTGCC	0.657													6	20					0	0	0	0	A	1261156	G	A	1261156	2	1	110	1	0	0	0	0	0	0	0	1	10049	1103	39	1		1	MUC5B	11	1261156	Silent	SNP	G	TCGA-CN-6997-01A-11D-2012-08	640050	1261156	133745360	72	21025											
OR52A5	390054	broad.mit.edu	37	chr11	5153166	5153166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaaaggccttgaatcgtGcctccttctggggcagctga	8	12	11	10	1	1	2	0	2	1	0	3	2	2	2	3	3	2	2	3	3	4	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:5153166G>A	ENST00000307388.1	-	1	706	c.707C>T	c.(706-708)gCa>gTa	p.A236V		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTTGAATCGTGCCTCCTTCTG	0.408													14	35					0	0	0	0	A	5153166	G	A	5153166	3	1	110	1	0	0	0	0	1	0	0	0	11181	1319	46	4	246	4	OR52A5	11	5153166	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	3892010	5153166	129853350	73	21026											
OR4C15	81309	broad.mit.edu	37	chr11	55322553	55322553	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggtggtcatcaacagtggGtttatctgcatcataaactt	11	14	9	7	0	4	0	3	0	1	0	4	0	4	0	0	3	3	2	0	3	4	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:55322553G>T	ENST00000314644.2	+	1	771	c.771G>T	c.(769-771)ggG>ggT	p.G257G		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCAACAGTGGGTTTATCTGCA	0.463										HNSCC(20;0.049)			15	22					3.27435e-08	1.82736e-07	1	0	T	55322553	G	T	55322553	2	4	110	1	0	0	0	0	0	0	0	1	11119	1248	44	4		4	OR4C15	11	55322553	Silent	SNP	G	TCGA-CN-6997-01A-11D-2012-08	50169387	55322553	79683963	74	21027											
OR4C6	219432	broad.mit.edu	37	chr11	55433051	55433051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgatcatcatgagtccaCgggtgtgctgcctaatggta	10	10	11	10	2	2	1	2	1	0	0	3	2	3	1	2	2	2	2	2	2	2	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:55433051C>T	ENST00000314259.3	+	1	438	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CATGAGTCCACGGGTGTGCTG	0.512													48	18					0	0	0	0	T	55433051	C	T	55433051	3	4	110	1	0	0	0	0	1	0	0	0	11123	527	19	1	411	1	OR4C6	11	55433051	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	110498	55433051	79573465	75	21028											
KAT5	10524	broad.mit.edu	37	chr11	65482325	65482325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgacatcctccaggcaatGagatttaccgcaagggcacc	12	7	9	13	2	0	1	0	1	0	1	2	3	2	1	4	2	2	3	4	2	4	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:65482325G>A	ENST00000341318.4	+	8	1207	c.973G>A	c.(973-975)Gag>Aag	p.E325K	KAT5_ENST00000530446.1_Missense_Mutation_p.E273K|KAT5_ENST00000377046.3_Missense_Mutation_p.E292K|KAT5_ENST00000352980.4_Missense_Mutation_p.E240K|KAT5_ENST00000534650.1_Missense_Mutation_p.E81K	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	292					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						TCCAGGCAATGAGATTTACCG	0.537													36	99					0	0	0	0	A	65482325	G	A	65482325	3	1	110	1	0	0	0	0	1	0	0	0	8036	1291	45	2	1003	2	KAT5	11	65482325	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	10049274	65482325	69524191	76	21029											
NOX4	50507	broad.mit.edu	37	chr11	89070672	89070672	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgacatagtcaggtctgttCtcttgccaaaactgagagga	11	12	10	8	0	3	2	1	2	2	1	4	4	3	3	1	2	2	1	1	2	3	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:89070672C>T	ENST00000535633.1	-	16	1696	c.1386G>A	c.(1384-1386)gaG>gaA	p.E462E	NOX4_ENST00000531342.1_Silent_p.E139E|NOX4_ENST00000542487.1_Silent_p.E462E|NOX4_ENST00000343727.5_Silent_p.E462E|NOX4_ENST00000528341.1_Silent_p.E461E|NOX4_ENST00000525196.1_Silent_p.E250E|NOX4_ENST00000527956.1_Silent_p.E462E|NOX4_ENST00000263317.4_Silent_p.E486E|NOX4_ENST00000527626.1_Silent_p.E299E|NOX4_ENST00000375979.3_Silent_p.E179E|NOX4_ENST00000532825.1_Silent_p.E422E|NOX4_ENST00000534731.1_Silent_p.E446E|NOX4_ENST00000424319.1_Silent_p.E462E|NOX4_ENST00000413594.2_Silent_p.E507E	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	486	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	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|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)				CAGGTCTGTTCTCTTGCCAAA	0.368													5	22					0	0	0	0	T	89070672	C	T	89070672	2	4	110	1	0	0	0	0	0	0	0	1	10628	912	32	2		2	NOX4	11	89070672	Silent	SNP	C	TCGA-CN-6997-01A-11D-2012-08	23588347	89070672	45935844	77	21030											
CNTN5	53942	broad.mit.edu	37	chr11	100169994	100169994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaaaatggtgacatcctCtgaagcttccaaattcattt	14	12	7	8	0	2	2	1	2	1	0	4	3	4	3	2	2	1	1	2	2	5	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:100169994C>T	ENST00000524871.1	+	20	2776	c.2486C>T	c.(2485-2487)tCt>tTt	p.S829F	CNTN5_ENST00000528682.1_Missense_Mutation_p.S829F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S755F|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.S829F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S829F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	829	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GTGACATCCTCTGAAGCTTCC	0.433													46	11					0	0	0	0	T	100169994	C	T	100169994	3	4	110	1	0	0	0	0	1	0	0	0	3674	913	32	2	2556	2	CNTN5	11	100169994	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	11099322	100169994	34836522	78	21031											
EXPH5	23086	broad.mit.edu	37	chr11	108380450	108380450	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactctgaggggttgggaggGttcctcaaatcatcttttag	8	13	13	7	0	4	1	2	1	2	0	5	3	5	2	1	4	0	2	1	4	2	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:108380450G>A	ENST00000265843.4	-	6	5894	c.5784C>T	c.(5782-5784)aaC>aaT	p.N1928N	EXPH5_ENST00000428840.1_Silent_p.N1852N|EXPH5_ENST00000443411.1_Silent_p.N1740N|EXPH5_ENST00000525344.1_Silent_p.N1921N	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1928					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGTTGGGAGGGTTCCTCAAAT	0.413													50	13					0	0	0	0	A	108380450	G	A	108380450	2	1	110	1	0	0	0	0	0	0	0	1	5360	1252	44	4		4	EXPH5	11	108380450	Silent	SNP	G	TCGA-CN-6997-01A-11D-2012-08	8210456	108380450	26626066	79	21032											
UBE4A	9354	broad.mit.edu	37	chr11	118263519	118263519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgtgatgagttcctggatCccattatgagcacactgatg	9	12	10	10	0	0	4	0	4	0	0	2	5	2	5	3	1	1	2	3	1	1	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:118263519C>T	ENST00000252108.3	+	19	3114	c.2983C>T	c.(2983-2985)Ccc>Tcc	p.P995S	UBE4A_ENST00000431736.2_Missense_Mutation_p.P1002S|UBE4A_ENST00000545354.1_Missense_Mutation_p.P467S	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	995	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GTTCCTGGATCCCATTATGAG	0.473													131	26					0	0	0	0	T	118263519	C	T	118263519	3	4	110	1	0	0	0	0	1	0	0	0	16978	855	30	2	3074	2	UBE4A	11	118263519	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	9883069	118263519	16742997	80	21033											
TECTA	7007	broad.mit.edu	37	chr11	121058640	121058640	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaaattcataggggattaCgacgaagttcaccttcactg	12	13	8	8	2	3	0	3	0	0	0	3	3	3	1	1	2	1	1	1	2	5	7			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:121058640C>T	ENST00000392793.1	+	21	6370	c.6099C>T	c.(6097-6099)taC>taT	p.Y2033Y	TECTA_ENST00000264037.2_Silent_p.Y2033Y			O75443	TECTA_HUMAN	tectorin alpha	2033	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAGGGGATTACGACGAAGTTC	0.453													72	15					0	0	0	0	T	121058640	C	T	121058640	2	4	110	1	0	0	0	0	0	0	0	1	15841	547	19	1		1	TECTA	11	121058640	Silent	SNP	C	TCGA-CN-6997-01A-11D-2012-08	2795121	121058640	13947876	81	21034											
KCNJ1	3758	broad.mit.edu	37	chr11	128709211	128709211	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttcctttgtcttggataCtatgggagcaaaacggtagc	9	12	10	10	1	1	0	0	0	1	0	2	2	2	2	2	3	4	2	2	3	5	6			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:128709211C>G	ENST00000392665.2	-	2	1072	c.928G>C	c.(928-930)Gta>Cta	p.V310L	KCNJ1_ENST00000440599.2_Missense_Mutation_p.V310L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.V310L|KCNJ1_ENST00000392664.2_Missense_Mutation_p.V329L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.V310L	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	329					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	GTCTTGGATACTATGGGAGCA	0.493													44	37					0	0	0	0	G	128709211	C	G	128709211	3	3	110	1	0	0	0	0	1	0	0	0	8096	565	20	4	194	4	KCNJ1	11	128709211	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	7650571	128709211	6297305	82	21035											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438514	6438514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgggcgggagggcggcGgggccgcaaagcgcctcctc	4	2	21	14	7	0	0	0	0	0	0	2	1	1	1	3	7	1	1	3	7	1	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:6438514G>A	ENST00000162749.2	-	10	1631	c.1332C>T	c.(1330-1332)ccC>ccT	p.P444P	TNFRSF1A_ENST00000540022.1_Silent_p.P401P	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	444				GPAA -> APP (in Ref. 5; AAA36756).	apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						ggagggcggcggggccgcAAA	0.706													6	18					0	0	0	0	A	6438514	G	A	6438514	2	1	110	1	0	0	0	0	0	0	0	1	16387	1103	39	1		1	TNFRSF1A	12	6438514	Silent	SNP	G	TCGA-CN-6997-01A-11D-2012-08		6438514	127413381	83	21036											
LRP6	4040	broad.mit.edu	37	chr12	12278294	12278294	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atgctcctgtaacatgggctCggtcataggggggtccactg	7	10	14	10	1	1	0	1	0	0	0	4	0	3	0	2	5	2	3	2	5	2	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:12278294C>G	ENST00000261349.4	-	21	4461	c.4385G>C	c.(4384-4386)cGa>cCa	p.R1462P	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.R1417P	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1462					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AACATGGGCTCGGTCATAGGG	0.443													18	22					0	0	0	0	G	12278294	C	G	12278294	3	3	110	1	0	0	0	0	1	0	0	0	9026	884	31	3	468	3	LRP6	12	12278294	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	5839780	12278294	121573601	84	21037											
BCAT1	586	broad.mit.edu	37	chr12	25047338	25047338	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgatccgtgaacacagtTccaaaaaccagattattggg	15	10	8	8	1	0	3	0	2	0	1	2	3	2	3	3	1	2	1	3	1	5	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:25047338T>G	ENST00000261192.7	-	3	676	c.150A>C	c.(148-150)ggA>ggC	p.G50G	BCAT1_ENST00000538118.1_Silent_p.G49G|BCAT1_ENST00000539780.1_Silent_p.G50G|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Silent_p.G62G|BCAT1_ENST00000342945.5_Silent_p.G26G	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	50					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TGAACACAGTTCCAAAAACCA	0.438													5	15					0	0	0	0	G	25047338	T	G	25047338	2	3	110	1	0	0	0	0	0	0	0	1	1358	1770	62	5		5	BCAT1	12	25047338	Silent	SNP	T	TCGA-CN-6997-01A-11D-2012-08	12769044	25047338	108804557	85	21038											
ITPR2	3709	broad.mit.edu	37	chr12	26781079	26781079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagatcctataatccagtCtgacactcaggataaactat	15	11	6	9	0	2	2	1	2	1	1	4	4	4	3	2	1	1	0	2	1	5	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:26781079C>T	ENST00000381340.3	-	23	3367	c.2951G>A	c.(2950-2952)aGa>aAa	p.R984K	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	984					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.R984K(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATAATCCAGTCTGACACTCAG	0.353													61	119					0	0	0	0	T	26781079	C	T	26781079	3	4	110	1	0	0	0	0	1	0	0	0	7974	913	32	2	5294	2	ITPR2	12	26781079	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	1733741	26781079	107070816	86	21039											
C12orf71	728858	broad.mit.edu	37	chr12	27234247	27234247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcagcagagaggggaggaTacgctgcctcagccagctga	10	5	14	12	1	2	2	2	1	0	1	2	5	2	4	3	3	5	3	3	3	1	1			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:27234247T>C	ENST00000429849.2	-	2	700	c.670A>G	c.(670-672)Atc>Gtc	p.I224V		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	224										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GAGGGGAGGATACGCTGCCTC	0.552													53	73					0	0	0	0	C	27234247	T	C	27234247	3	2	110	1	0	0	0	0	1	0	0	0	1724	1406	49	5	143	5	C12orf71	12	27234247	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	453168	27234247	106617648	87	21040											
KRT78	196374	broad.mit.edu	37	chr12	53237950	53237950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgagagatctggactttcGtttcctgcatcctgtcccca	6	13	9	13	1	1	2	0	1	1	1	5	4	4	3	4	1	1	3	4	1	0	2	rs145166082		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:53237950G>A	ENST00000359499.4	-	6	655	c.644C>T	c.(643-645)aCg>aTg	p.T215M	KRT78_ENST00000304620.4_Missense_Mutation_p.T325M			Q8N1N4	K2C78_HUMAN	keratin 78	325	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTGGACTTTCGTTTCCTGCAT	0.527													81	96					0	0	0	0	A	53237950	G	A	53237950	3	1	110	1	0	0	0	0	1	0	0	0	8543	1145	40	1	604	1	KRT78	12	53237950	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	26003703	53237950	80613945	88	21041											
MAP3K12	7786	broad.mit.edu	37	chr12	53875912	53875913	+	Frame_Shift_Ins	INS	-	-	T																															gccactgggggaaggttcacINStagctgtgccttcctcccca																										TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:53875912_53875913insT	ENST00000267079.2	-	14	2518_2519	c.2293_2294insA	c.(2293-2295)tgafs	p.*765fs	MAP3K12_ENST00000547488.1_Frame_Shift_Ins_p.*798fs|MAP3K12_ENST00000547035.1_Frame_Shift_Ins_p.*798fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	765					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGAAGGTTCACTAGCTGTGCCT	0.554											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	93	---	---	---	---					T	53875913	-	T	53875912	7	5	110	1	0	1	1	0	0	0	0	0	9315	565	20	0	293	0	MAP3K12	12	53875912	Frame_Shift_Ins	INS	-	TCGA-CN-6997-01A-11D-2012-08	637962	53875912	79975983	89	21042											
LRP1	4035	broad.mit.edu	37	chr12	57604642	57604642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgcctacccggcttccTgggcgaccgctgccagtacc	5	7	11	18	4	0	0	0	0	0	0	1	2	1	0	7	2	4	3	7	2	2	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:57604642T>C	ENST00000243077.3	+	83	13362	c.12896T>C	c.(12895-12897)cTg>cCg	p.L4299P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4299	EGF-like 19.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCGGCTTCCTGGGCGACCGC	0.647													3	36					0	0	0	0	C	57604642	T	C	57604642	3	2	110	1	0	0	0	0	1	0	0	0	9015	1580	55	5	13226	5	LRP1	12	57604642	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	3728730	57604642	76247253	90	21043											
B4GALNT1	2583	broad.mit.edu	37	chr12	58021951	58021951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccacaagcctctccagcCgcgtccgcgccgtgaagacg	7	5	11	18	7	1	2	0	1	1	1	4	2	3	2	6	0	2	0	6	0	2	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:58021951C>T	ENST00000341156.4	-	9	1681	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R311Q	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	366					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCTCTCCAGCCGCGTCCGCGC	0.652													24	39					0	0	0	0	T	58021951	C	T	58021951	3	4	110	1	0	0	0	0	1	0	0	0	1270	652	23	1	516	1	B4GALNT1	12	58021951	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	417309	58021951	75829944	91	21044											
ZFC3H1	196441	broad.mit.edu	37	chr12	72038823	72038823	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccaaaaggcgaagctgtaaTtcagatagttcctcttcatc	12	11	8	10	1	3	1	2	0	1	1	5	2	4	1	2	1	1	3	2	1	5	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:72038823T>A	ENST00000378743.3	-	4	1471	c.1113A>T	c.(1111-1113)gaA>gaT	p.E371D		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	371					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAGCTGTAATTCAGATAGTT	0.338													16	22					0	0	0	0	A	72038823	T	A	72038823	3	1	110	1	0	0	0	0	1	0	0	0	17728	1490	52	5	4984	5	ZFC3H1	12	72038823	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	14016872	72038823	61813072	92	21045											
NAV3	89795	broad.mit.edu	37	chr12	78400648	78400648	+	Frame_Shift_Del	DEL	C	C	-																															atagcagtcccaaagtgtcaCctaagttggcccctccaaaa																										TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:78400648delC	ENST00000397909.2	+	8	1503	c.1330delC	c.(1330-1332)ctfs	p.P444fs	NAV3_ENST00000228327.6_Frame_Shift_Del_p.P444fs|NAV3_ENST00000536525.2_Frame_Shift_Del_p.P444fs|NAV3_ENST00000266692.7_Frame_Shift_Del_p.P444fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	444						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAAAGTGTCACCTAAGTTGGC	0.408										HNSCC(70;0.22)			34	68	---	---	---	---					-	78400648	C	-	78400648	7	5	110	1	0	1	0	1	0	0	0	0	10255	507	18	0	1360	0	NAV3	12	78400648	Frame_Shift_Del	DEL	C	TCGA-CN-6997-01A-11D-2012-08	6361825	78400648	55451247	93	21046											
TMPO	7112	broad.mit.edu	37	chr12	98928061	98928061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccactccctttaaaggtGgaacattatttggaggagaa	12	12	9	8	0	0	1	0	0	0	1	2	4	2	3	2	4	1	0	2	4	5	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:98928061G>A	ENST00000266732.4	+	4	2264	c.2026G>A	c.(2026-2028)Gga>Aga	p.G676R	TMPO_ENST00000343315.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000393053.2_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTTTAAAGGTGGAACATTATT	0.368													24	237					0	0	0	0	A	98928061	G	A	98928061	3	1	110	1	0	0	0	0	1	0	0	0	16331	1349	47	4	2040	4	TMPO	12	98928061	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	20527413	98928061	34923834	94	21047											
DDX55	57696	broad.mit.edu	37	chr12	124104018	124104018	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgaggttttgccctgcTgaggatgcccaagatgccag	7	10	13	11	1	0	2	0	1	0	1	1	4	0	3	3	2	5	3	3	2	1	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:124104018T>C	ENST00000238146.4	+	13	1423	c.1373T>C	c.(1372-1374)cTg>cCg	p.L458P	DDX55_ENST00000538744.1_Missense_Mutation_p.L427P|DDX55_ENST00000541259.1_3'UTR|DDX55_ENST00000421670.3_Missense_Mutation_p.L65P	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	458							ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TTTGCCCTGCTGAGGATGCCC	0.438													49	79					0	0	0	0	C	124104018	T	C	124104018	3	2	110	1	0	0	0	0	1	0	0	0	4405	1580	55	5	1423	5	DDX55	12	124104018	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	25175957	124104018	9747877	95	21048											
GOLGA3	2802	broad.mit.edu	37	chr12	133384625	133384625	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatctcctggccgttgaccaTatagggggtgtcctgcgtgc	6	11	13	11	2	1	1	0	1	1	0	3	1	2	1	4	3	2	1	4	3	3	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:133384625T>C	ENST00000204726.3	-	5	1588	c.1030A>G	c.(1030-1032)Atg>Gtg	p.M344V	GOLGA3_ENST00000450791.2_Missense_Mutation_p.M344V|GOLGA3_ENST00000537452.1_Missense_Mutation_p.M344V|GOLGA3_ENST00000456883.2_Missense_Mutation_p.M344V|GOLGA3_ENST00000545875.1_Missense_Mutation_p.M344V	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	344					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCGTTGACCATATAGGGGGTG	0.612													33	38					0	0	0	0	C	133384625	T	C	133384625	3	2	110	1	0	0	0	0	1	0	0	0	6605	1406	49	5	3684	5	GOLGA3	12	133384625	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	9280607	133384625	467270	96	21049											
SACS	26278	broad.mit.edu	37	chr13	23905802	23905802	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcttcaaaaaagcaaaagtTtcacttctgctgtggggaat	13	11	9	8	1	3	0	2	0	1	0	3	1	3	1	0	2	2	4	0	2	6	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr13:23905802T>C	ENST00000382298.3	-	10	12801	c.12213A>G	c.(12211-12213)gaA>gaG	p.E4071E	SACS_ENST00000402364.1_Silent_p.E3321E|SACS_ENST00000382292.3_Silent_p.E4071E	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4071					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGCAAAAGTTTCACTTCTGC	0.363													19	33					0	0	0	0	C	23905802	T	C	23905802	2	2	110	1	0	0	0	0	0	0	0	1	13889	1838	64	5		5	SACS	13	23905802	Silent	SNP	T	TCGA-CN-6997-01A-11D-2012-08		23905802	91264076	97	21050											
CDK8	1024	broad.mit.edu	37	chr13	26967609	26967609	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatccttatcaccatgaccAgctggacagaatattcaatg	14	11	6	10	0	2	2	2	1	0	1	3	3	3	3	3	1	1	1	3	1	5	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr13:26967609A>G	ENST00000381527.3	+	7	1255	c.752A>G	c.(751-753)cAg>cGg	p.Q251R	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	251	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CACCATGACCAGCTGGACAGA	0.363													73	109					0	0	0	0	G	26967609	A	G	26967609	3	3	110	1	0	0	0	0	1	0	0	0	3179	188	7	5	778	5	CDK8	13	26967609	Missense_Mutation	SNP	A	TCGA-CN-6997-01A-11D-2012-08	3061807	26967609	88202269	98	21051											
FLT1	2321	broad.mit.edu	37	chr13	28913349	28913349	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcccacttgctggcatcaTaagggagccgctcacactgc	9	8	9	15	1	2	0	2	0	0	0	3	1	3	1	2	2	3	3	2	2	1	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr13:28913349T>C	ENST00000282397.4	-	17	2695	c.2444A>G	c.(2443-2445)tAt>tGt	p.Y815C	FLT1_ENST00000540678.1_Missense_Mutation_p.Y33C	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	815					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCTGGCATCATAAGGGAGCCG	0.398													21	38					0	0	0	0	C	28913349	T	C	28913349	3	2	110	1	0	0	0	0	1	0	0	0	5986	1406	49	5	1628	5	FLT1	13	28913349	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	1945740	28913349	86256529	99	21052											
FRY	10129	broad.mit.edu	37	chr13	32798394	32798394	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatccaatttctccctacacGggctggttgctgactattac	8	13	8	12	1	1	1	0	1	1	0	3	2	2	1	2	2	3	3	2	2	4	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr13:32798394G>A	ENST00000380250.3	+	37	5284	c.4788G>A	c.(4786-4788)acG>acA	p.T1596T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCCCTACACGGGCTGGTTGC	0.498													42	48					0	0	0	0	A	32798394	G	A	32798394	2	1	110	1	0	0	0	0	0	0	0	1	6111	1103	39	1		1	FRY	13	32798394	Silent	SNP	G	TCGA-CN-6997-01A-11D-2012-08	3885045	32798394	82371484	100	21053											
ZC3H13	23091	broad.mit.edu	37	chr13	46577305	46577305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcttttctctttgtcgttCaaaatctcgtcctctgtcct	4	20	4	13	2	5	0	1	0	4	0	11	0	7	0	2	0	0	1	2	0	2	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr13:46577305C>G	ENST00000242848.4	-	8	1261	c.913G>C	c.(913-915)Gaa>Caa	p.E305Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E305Q|ZC3H13_ENST00000470308.1_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	305							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTTTGTCGTTCAAAATCTCGT	0.313													7	154					0	0	0	0	G	46577305	C	G	46577305	3	3	110	1	0	0	0	0	1	0	0	0	17660	835	29	2	3821	2	ZC3H13	13	46577305	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	13778911	46577305	68592573	101	21054											
GPC5	2262	broad.mit.edu	37	chr13	92408604	92408604	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctatggaggtctagctgatCagctttgtgctaatgaatta	10	15	10	6	0	3	2	1	2	2	0	3	3	3	3	0	2	3	3	0	2	5	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr13:92408604C>T	ENST00000377067.3	+	5	1582	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	404						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCTAGCTGATCAGCTTTGTGC	0.373													27	62					0	0	0	0	T	92408604	C	T	92408604	4	4	110	1	0	0	0	0	0	1	0	0	6650	827	29	2	1228	2	GPC5	13	92408604	Nonsense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	45831299	92408604	22761274	102	21055											
NIN	51199	broad.mit.edu	37	chr14	51227017	51227017	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgcctttgcttcatgtTctcctgtgccttcttgcagc	3	17	7	14	0	4	0	2	0	2	0	5	0	4	0	3	0	5	3	3	0	0	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr14:51227017T>A	ENST00000245441.5	-	17	2147	c.1957A>T	c.(1957-1959)Aac>Tac	p.N653Y	NIN_ENST00000382041.3_Missense_Mutation_p.N653Y|NIN_ENST00000382043.4_Missense_Mutation_p.N653Y|NIN_ENST00000324330.9_Missense_Mutation_p.N653Y|NIN_ENST00000530997.2_Missense_Mutation_p.N653Y|NIN_ENST00000453196.1_Missense_Mutation_p.N653Y|NIN_ENST00000389868.3_Missense_Mutation_p.N653Y	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	653					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGCTTCATGTTCTCCTGTGCC	0.468			T	PDGFRB	MPD								82	25					0	0	0	0	A	51227017	T	A	51227017	3	1	110	1	0	0	0	0	1	0	0	0	10487	1783	62	5	4652	5	NIN	14	51227017	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08		51227017	56122523	103	21056											
PARP6	56965	broad.mit.edu	37	chr15	72534499	72534499	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgggcaagctacctaccTtcacaaagtgctatacagtt	13	10	7	11	0	1	0	1	0	0	0	1	0	1	0	2	1	5	4	2	1	6	6			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr15:72534499T>C	ENST00000569795.1	-	22	2391	c.1705_splice	c.e22+1	p.E568_splice	PARP6_ENST00000260376.7_3'UTR|PARP6_ENST00000287196.9_Splice_Site_p.E568_splice|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	568	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GCTACCTACCTTCACAAAGTG	0.473													15	9					0	0	0	0	C	72534499	T	C	72534499	5	2	110	1	0	0	0	0	0	0	1	0	11535	1623	56	5	200	5	PARP6	15	72534499	Splice_Site	SNP	T	TCGA-CN-6997-01A-11D-2012-08		72534499	29996893	104	21057											
PRKCB	5579	broad.mit.edu	37	chr16	24196444	24196444	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctagataattgcttatCagccctatgggaagtccgtg	9	15	9	8	1	2	1	1	0	1	1	3	2	3	2	2	1	2	1	2	1	5	7			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr16:24196444C>T	ENST00000303531.7	+	14	1698	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	PRKCB_ENST00000321728.7_Nonsense_Mutation_p.Q516*	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	516	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AATTGCTTATCAGCCCTATGG	0.433													5	84					0	0	0	0	T	24196444	C	T	24196444	4	4	110	1	0	0	0	0	0	1	0	0	12588	827	29	2	1600	2	PRKCB	16	24196444	Nonsense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08		24196444	66158309	105	21058											
RBBP6	5930	broad.mit.edu	37	chr16	24580072	24580072	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttttgtttttaggtctaaAtctccctatagtggttcttc	6	21	7	7	0	3	0	0	0	3	0	5	0	3	0	1	2	0	3	1	2	5	10			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr16:24580072A>G	ENST00000319715.4	+	17	2493	c.2061A>G	c.(2059-2061)aaA>aaG	p.K687K	RBBP6_ENST00000348022.2_Silent_p.K653K|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	687					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTAGGTCTAAATCTCCCTATA	0.343													17	37					0	0	0	0	G	24580072	A	G	24580072	2	3	110	1	0	0	0	0	0	0	0	1	13185	98	4	5		5	RBBP6	16	24580072	Silent	SNP	A	TCGA-CN-6997-01A-11D-2012-08	383628	24580072	65774681	106	21059											
SALL1	6299	broad.mit.edu	37	chr16	51171062	51171062	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgctgtcctccacgaagcgGgtgaagcggaagttggttcc	7	10	14	10	3	0	1	0	1	0	0	3	3	3	2	3	3	3	3	3	3	3	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr16:51171062G>C	ENST00000440970.1	-	3	4076	c.3645C>G	c.(3643-3645)acC>acG	p.T1215T	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000251020.4_Silent_p.T1312T|SALL1_ENST00000541611.1_Silent_p.T135T	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1312					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCACGAAGCGGGTGAAGCGGA	0.567													23	33					0	0	0	0	C	51171062	G	C	51171062	2	2	110	1	0	0	0	0	0	0	0	1	13895	1219	43	4		4	SALL1	16	51171062	Silent	SNP	G	TCGA-CN-6997-01A-11D-2012-08	26590990	51171062	39183691	107	21060											
SALL1	6299	broad.mit.edu	37	chr16	51174418	51174418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgggggctggctcttccGtcttgatgaagggtatgagg	6	11	18	6	1	2	3	0	3	2	0	3	4	3	4	1	6	0	3	1	6	2	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr16:51174418G>A	ENST00000440970.1	-	2	1855	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.T572M|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	572					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGCTCTTCCGTCTTGATGAA	0.602													17	31					0	0	0	0	A	51174418	G	A	51174418	3	1	110	1	0	0	0	0	1	0	0	0	13895	1145	40	1	2267	1	SALL1	16	51174418	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	3356	51174418	39180335	108	21061											
RLTPR	146206	broad.mit.edu	37	chr16	67682065	67682065	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtggggggatggatgacCggcagggcggactggagggc	6	5	22	8	3	0	1	0	1	0	0	1	5	1	5	2	9	0	1	2	9	0	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr16:67682065C>A	ENST00000334583.6	+	14	1510	c.1182C>A	c.(1180-1182)acC>acA	p.T394T	RLTPR_ENST00000545661.1_Intron	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	394										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GATGGATGACCGGCAGGGCGG	0.687													10	11					3.07112e-06	1.68369e-05	1	0	A	67682065	C	A	67682065	2	1	110	1	0	0	0	0	0	0	0	1	13479	639	23	3		3	RLTPR	16	67682065	Silent	SNP	C	TCGA-CN-6997-01A-11D-2012-08	16507647	67682065	22672688	109	21062											
SLC7A6OS	84138	broad.mit.edu	37	chr16	68336300	68336300	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctctggaatcctcatcTccatcactgctctcctcctc	6	12	3	20	0	5	0	2	0	3	0	10	1	7	1	6	1	1	1	6	1	1	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr16:68336300T>C	ENST00000263997.6	-	4	801	c.783A>G	c.(781-783)ggA>ggG	p.G261G		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	261					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		AATCCTCATCTCCATCACTGC	0.517													80	100					0	0	0	0	C	68336300	T	C	68336300	2	2	110	1	0	0	0	0	0	0	0	1	14790	1538	54	5		5	SLC7A6OS	16	68336300	Silent	SNP	T	TCGA-CN-6997-01A-11D-2012-08	654235	68336300	22018453	110	21063											
POLR2A	5430	broad.mit.edu	37	chr17	7404147	7404147	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtggcccttacaagcacAtctctcctggggacaccaag	11	7	9	14	0	1	0	0	0	1	0	3	1	2	1	3	3	2	1	3	3	3	1			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:7404147A>G	ENST00000322644.6	+	11	2260	c.1861A>G	c.(1861-1863)Atc>Gtc	p.I621V		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	621					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TTACAAGCACATCTCTCCTGG	0.537													31	87					0	0	0	0	G	7404147	A	G	7404147	3	3	110	1	0	0	0	0	1	0	0	0	12286	217	8	5	1903	5	POLR2A	17	7404147	Missense_Mutation	SNP	A	TCGA-CN-6997-01A-11D-2012-08		7404147	73791063	111	21064											
TP53	7157	broad.mit.edu	37	chr17	7578524	7578524	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcaggtcttggccagttGgcaaaacatcttgttgaggg	9	10	15	7	0	2	1	0	1	2	0	2	1	2	1	1	5	1	4	1	5	2	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:7578524G>A	ENST00000420246.2	-	5	538	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q136*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGGCCAGTTGGCAAAACATC	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			64	7					0	0	0	0	A	7578524	G	A	7578524	4	1	110	1	0	0	0	0	0	1	0	0	16476	1357	47	4	892	4	TP53	17	7578524	Nonsense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	174377	7578524	73616686	112	21065											
MYH4	4622	broad.mit.edu	37	chr17	10364246	10364246	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaccttccgtgccatcTggctctgcctgctcttccct	2	14	9	16	1	3	0	0	0	3	0	5	0	5	0	5	2	4	3	5	2	1	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:10364246T>A	ENST00000255381.2	-	12	1244	c.1134A>T	c.(1132-1134)ccA>ccT	p.P378P	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	378	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCGTGCCATCTGGCTCTGCCT	0.478													30	69					0	0	0	0	A	10364246	T	A	10364246	2	1	110	1	0	0	0	0	0	0	0	1	10107	1567	55	5		5	MYH4	17	10364246	Silent	SNP	T	TCGA-CN-6997-01A-11D-2012-08	2785722	10364246	70830964	113	21066											
USP22	23326	broad.mit.edu	37	chr17	20911270	20911270	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatggcaaccgctgcacttGatcttggcgctgctgcccaa	7	10	10	14	2	1	1	0	1	1	0	1	1	1	1	2	2	4	5	2	2	3	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:20911270G>C	ENST00000261497.4	-	9	1346	c.1143C>G	c.(1141-1143)atC>atG	p.I381M	USP22_ENST00000537526.2_Missense_Mutation_p.I369M|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	381					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CGCTGCACTTGATCTTGGCGC	0.488													33	33					0	0	0	0	C	20911270	G	C	20911270	3	2	110	1	0	0	0	0	1	0	0	0	17150	1280	45	2	454	2	USP22	17	20911270	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	10547024	20911270	60283940	114	21067											
CCL1	6346	broad.mit.edu	37	chr17	32688843	32688843	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatggagctggtatttctgTaacacaggattgccctcagg	10	11	12	8	0	2	1	1	0	1	1	2	3	2	3	1	4	3	3	1	4	2	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:32688843T>G	ENST00000225842.3	-	2	218	c.149A>C	c.(148-150)tAc>tCc	p.Y50S		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	50					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GGTATTTCTGTAACACAGGAT	0.493											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	110					0	0	0	0	G	32688843	T	G	32688843	3	3	110	1	0	0	0	0	1	0	0	0	2909	1638	57	5	149	5	CCL1	17	32688843	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	11777573	32688843	48506367	115	21068											
TMEM132E	124842	broad.mit.edu	37	chr17	32953362	32953362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtcctcaacgtctctctggGgcccttcagcaccagccagg	6	8	11	16	1	4	0	2	0	2	0	6	0	5	0	4	4	3	1	4	4	1	1			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:32953362G>A	ENST00000321639.5	+	2	612	c.284G>A	c.(283-285)gGg>gAg	p.G95E		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	95						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCTCTCTGGGGCCCTTCAGC	0.697													8	24					0	0	0	0	A	32953362	G	A	32953362	3	1	110	1	0	0	0	0	1	0	0	0	16142	1232	43	4	290	4	TMEM132E	17	32953362	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	264519	32953362	48241848	116	21069											
PGAP3	93210	broad.mit.edu	37	chr17	37842182	37842182	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccaactcaccttgccaTggaactgaggcactttgtga	9	10	8	14	0	1	2	1	2	0	0	2	3	2	3	4	2	3	1	4	2	2	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:37842182T>A	ENST00000300658.4	-	2	364	c.272A>T	c.(271-273)cAt>cTt	p.H91L	PGAP3_ENST00000579146.1_Missense_Mutation_p.H91L|PGAP3_ENST00000429199.2_Missense_Mutation_p.H91L|PGAP3_ENST00000378011.4_Missense_Mutation_p.H91L	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	91					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CACCTTGCCATGGAACTGAGG	0.537													13	17					0	0	0	0	A	37842182	T	A	37842182	3	1	110	1	0	0	0	0	1	0	0	0	11851	1464	51	5	718	5	PGAP3	17	37842182	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	4888820	37842182	43353028	117	21070											
B4GALNT2	124872	broad.mit.edu	37	chr17	47243530	47243530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtcaccaccaaatacgttCtctgggtggacgatgatttt	10	12	10	9	2	2	1	1	1	1	0	3	3	2	2	2	3	1	1	2	3	2	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:47243530C>T	ENST00000300404.2	+	9	1248	c.1189C>T	c.(1189-1191)Ctc>Ttc	p.L397F	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.L311F|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.L337F	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	397					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CAAATACGTTCTCTGGGTGGA	0.473													27	51					0	0	0	0	T	47243530	C	T	47243530	3	4	110	1	0	0	0	0	1	0	0	0	1271	913	32	2	1241	2	B4GALNT2	17	47243530	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	9401348	47243530	33951680	118	21071											
WFIKKN2	124857	broad.mit.edu	37	chr17	48916922	48916922	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accaagagctgcgtggcggcCcgctacatggacgtgaaagg	10	5	15	11	4	0	2	0	1	0	1	0	3	0	3	2	4	3	2	2	4	3	1			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:48916922C>A	ENST00000311378.4	+	2	801	c.273C>A	c.(271-273)gcC>gcA	p.A91A	WFIKKN2_ENST00000426127.1_5'UTR	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	91	WAP.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCGTGGCGGCCCGCTACATGG	0.582													14	21					1.49906e-05	8.12281e-05	1	0	A	48916922	C	A	48916922	2	1	110	1	0	0	0	0	0	0	0	1	17455	610	22	4		4	WFIKKN2	17	48916922	Silent	SNP	C	TCGA-CN-6997-01A-11D-2012-08	1673392	48916922	32278288	119	21072											
KIF2B	84643	broad.mit.edu	37	chr17	51901863	51901863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgggtcagaacaagcCtcacaccccattcagagcca	11	7	9	14	0	3	2	3	0	0	2	3	2	3	2	4	2	3	1	4	2	2	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:51901863C>A	ENST00000268919.4	+	1	1625	c.1469C>A	c.(1468-1470)cCt>cAt	p.P490H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	490					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGAACAAGCCTCACACCCCA	0.527													15	27					2.31682e-05	0.000124096	1	0	A	51901863	C	A	51901863	3	1	110	1	0	0	0	0	1	0	0	0	8349	681	24	4	1471	4	KIF2B	17	51901863	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	2984941	51901863	29293347	120	21073											
EMILIN2	84034	broad.mit.edu	37	chr18	2891658	2891658	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctacagatgaccaataaCactggtgcagagctcagtcc	12	8	8	13	0	1	3	1	1	0	2	3	3	3	3	3	1	4	2	3	1	3	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr18:2891658C>A	ENST00000254528.3	+	4	1692	c.1533C>A	c.(1531-1533)aaC>aaA	p.N511K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	511					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TGACCAATAACACTGGTGCAG	0.527													36	52					2.04263e-09	1.14683e-08	1	0	A	2891658	C	A	2891658	3	1	110	1	0	0	0	0	1	0	0	0	5132	477	17	4	1547	4	EMILIN2	18	2891658	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08		2891658	75185590	121	21074											
MYL12B	103910	broad.mit.edu	37	chr18	3273065	3273065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaggaagatttgcatgatAtgcttgcttctctaggtaga	12	13	10	6	0	1	3	0	1	1	2	2	4	1	4	0	2	3	4	0	2	5	6			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr18:3273065A>G	ENST00000581193.1	+	2	552	c.169A>G	c.(169-171)Atg>Gtg	p.M57V	MYL12B_ENST00000584539.1_Missense_Mutation_p.M57V|MYL12B_ENST00000400175.5_Missense_Mutation_p.M57V|MYL12B_ENST00000237500.5_Missense_Mutation_p.M57V	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	57	EF-hand 1.				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						TTTGCATGATATGCTTGCTTC	0.343													98	24					0	0	0	0	G	3273065	A	G	3273065	3	3	110	1	0	0	0	0	1	0	0	0	10116	449	16	5	171	5	MYL12B	18	3273065	Missense_Mutation	SNP	A	TCGA-CN-6997-01A-11D-2012-08	381407	3273065	74804183	122	21075											
LAMA1	284217	broad.mit.edu	37	chr18	6976021	6976021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtattgtagttggtagagGaaatctgaggctggtaggcc	10	11	16	4	0	1	2	0	1	1	1	1	3	1	3	1	6	0	6	1	6	5	6			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr18:6976021G>A	ENST00000389658.3	-	45	6497	c.6404C>T	c.(6403-6405)tCc>tTc	p.S2135F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2135	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTGGTAGAGGAAATCTGAGG	0.453													5	54					0	0	0	0	A	6976021	G	A	6976021	3	1	110	1	0	0	0	0	1	0	0	0	8658	1174	41	2	2899	2	LAMA1	18	6976021	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	3702956	6976021	71101227	123	21076											
SLC14A2	8170	broad.mit.edu	37	chr18	43224005	43224005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccaccatcatcttcctgCtcctgacgacaaacaaccca	11	9	4	17	1	2	1	1	1	1	0	4	2	4	1	5	0	4	1	5	0	2	2	rs139770269		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr18:43224005C>T	ENST00000255226.6	+	10	2047	c.1231C>T	c.(1231-1233)Ctc>Ttc	p.L411F	SLC14A2_ENST00000586448.1_Missense_Mutation_p.L411F	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	411						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCTTCCTGCTCCTGACGAC	0.547													73	103					0	0	0	0	T	43224005	C	T	43224005	3	4	110	1	0	0	0	0	1	0	0	0	14485	797	28	4	1265	4	SLC14A2	18	43224005	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	36247984	43224005	34853243	124	21077											
MYO5B	4645	broad.mit.edu	37	chr18	47390534	47390534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcctgccggcgagtcgccGctggtcggcgctcacgatct	3	9	14	15	7	2	0	1	0	1	0	5	2	3	0	3	3	1	3	3	3	0	1			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr18:47390534G>A	ENST00000285039.7	-	28	4119	c.3820C>T	c.(3820-3822)Cgg>Tgg	p.R1274W	MYO5B_ENST00000324581.6_Missense_Mutation_p.R415W|MYO5B_ENST00000587895.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1274					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCGAGTCGCCGCTGGTCGGCG	0.617													23	31					0	0	0	0	A	47390534	G	A	47390534	3	1	110	1	0	0	0	0	1	0	0	0	10149	1086	38	1	1778	1	MYO5B	18	47390534	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	4166529	47390534	30686714	125	21078											
MBD1	4152	broad.mit.edu	37	chr18	47800213	47800214	+	Frame_Shift_Ins	INS	-	-	AC																															catcctcagactctgaccagINSacactgggcagcagccgctt																										TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr18:47800213_47800214insAC	ENST00000591416.1	-	12	1597_1598	c.1166_1167insGT	c.(1165-1167)gtgfs	p.V389fs	MBD1_ENST00000588937.1_Frame_Shift_Ins_p.V366fs|MBD1_ENST00000587605.1_Frame_Shift_Ins_p.V333fs|MBD1_ENST00000398488.1_Frame_Shift_Ins_p.V333fs|MBD1_ENST00000591535.1_Frame_Shift_Ins_p.V366fs|MBD1_ENST00000590208.1_Frame_Shift_Ins_p.V389fs|MBD1_ENST00000585672.1_Frame_Shift_Ins_p.V339fs|MBD1_ENST00000457839.2_Frame_Shift_Ins_p.V414fs|MBD1_ENST00000585595.1_Frame_Shift_Ins_p.V414fs|MBD1_ENST00000436910.1_Frame_Shift_Ins_p.V366fs|MBD1_ENST00000398493.1_Frame_Shift_Ins_p.V333fs|MBD1_ENST00000398495.2_Frame_Shift_Ins_p.V358fs|MBD1_ENST00000382948.5_Frame_Shift_Ins_p.V389fs|MBD1_ENST00000353909.3_Frame_Shift_Ins_p.V340fs|MBD1_ENST00000349085.2_Frame_Shift_Ins_p.V333fs|MBD1_ENST00000347968.3_Frame_Shift_Ins_p.V333fs|MBD1_ENST00000339998.6_Frame_Shift_Ins_p.V389fs|MBD1_ENST00000269468.5_Frame_Shift_Ins_p.V389fs|MBD1_ENST00000269471.5_Frame_Shift_Ins_p.V366fs|MBD1_ENST00000424334.2_Frame_Shift_Ins_p.V440fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	389					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						ACTCTGACCAGACACTGGGCAG	0.609													43	89	---	---	---	---					AC	47800214	-	AC	47800213	7	5	110	1	0	1	1	0	0	0	0	0	9411	929	33	0	864	0	MBD1	18	47800213	Frame_Shift_Ins	INS	-	TCGA-CN-6997-01A-11D-2012-08	409679	47800213	30277035	126	21079											
MEX3D	399664	broad.mit.edu	37	chr19	1556345	1556345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccagggccgtgtccccGcggaggccggccgtggccgt	2	4	18	17	7	0	0	0	0	0	0	1	1	1	1	7	5	0	0	7	5	0	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:1556345G>A	ENST00000402693.4	-	2	1172	c.1173C>T	c.(1171-1173)cgC>cgT	p.R391R	MEX3D_ENST00000388824.6_Silent_p.R391R	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	391					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		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)		CCGTGTCCCCGCGGAGGCCGG	0.801													8	7					0	0	0	0	A	1556345	G	A	1556345	2	1	110	1	0	0	0	0	0	0	0	1	9581	1074	38	1		1	MEX3D	19	1556345	Silent	SNP	G	TCGA-CN-6997-01A-11D-2012-08		1556345	57572638	127	21080											
ZNF559	84527	broad.mit.edu	37	chr19	9452988	9452988	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccccagatcttgctaaacaTataagacttagaactagagg	15	10	7	9	0	1	4	0	0	1	4	2	4	2	4	2	1	3	1	2	1	7	6			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:9452988T>G	ENST00000393883.2	+	6	1509	c.861T>G	c.(859-861)caT>caG	p.H287Q	ZNF559_ENST00000603380.1_Missense_Mutation_p.H287Q|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.H351Q|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.H207Q|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000592896.1_3'UTR	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTGCTAAACATATAAGACTTA	0.333													37	62					0	0	0	0	G	9452988	T	G	9452988	3	3	110	1	0	0	0	0	1	0	0	0	18085	1403	49	5	875	5	ZNF559	19	9452988	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	7896643	9452988	49675995	128	21081											
QTRT1	81890	broad.mit.edu	37	chr19	10823850	10823850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaagcgcttcccggacttCgtgcgggacttcatgggcgc	6	8	15	12	5	1	1	1	0	0	1	3	4	2	3	1	3	2	1	1	3	1	3	rs139740339	byFrequency	TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:10823850C>T	ENST00000250237.5	+	10	1126	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	372					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TCCCGGACTTCGTGCGGGACT	0.657													38	48					0	0	0	0	T	10823850	C	T	10823850	2	4	110	1	0	0	0	0	0	0	0	1	12967	883	31	1		1	QTRT1	19	10823850	Silent	SNP	C	TCGA-CN-6997-01A-11D-2012-08	1370862	10823850	48305133	129	21082											
CYP4F8	11283	broad.mit.edu	37	chr19	15733053	15733053	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtggcaacgcctggccatgGagggcagcacctgtctggat	8	7	15	11	1	1	0	0	0	1	0	1	2	1	2	3	5	2	3	3	5	1	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:15733053G>C	ENST00000441682.2	+	0	611							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTGGCCATGGAGGGCAGCAC	0.587													16	27					0	0	0	0	C	15733053	G	C	15733053	1	2	110	0	1	0	0	0	0	0	0	0	4223	1175	41	2		2	CYP4F8	19	15733053	RNA	SNP	G	TCGA-CN-6997-01A-11D-2012-08	4909203	15733053	43395930	130	21083											
MYO9B	4650	broad.mit.edu	37	chr19	17309083	17309083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcatcctccctcccagacGcagggctgtccccgggctct	5	7	10	19	3	1	1	0	0	1	1	5	1	5	1	5	2	0	4	5	2	0	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:17309083G>A	ENST00000595618.1	+	24	4356	c.4204G>A	c.(4204-4206)Gca>Aca	p.A1402T	MYO9B_ENST00000594824.1_Missense_Mutation_p.A1402T|MYO9B_ENST00000397274.2_Missense_Mutation_p.A1402T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1402	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCTCCCAGACGCAGGGCTGTC	0.627													17	37					0	0	0	0	A	17309083	G	A	17309083	3	1	110	1	0	0	0	0	1	0	0	0	10155	1087	38	1	4294	1	MYO9B	19	17309083	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	1576030	17309083	41819900	131	21084											
UNC13A	23025	broad.mit.edu	37	chr19	17763482	17763482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacatctctccttctcccCgggcctgcaggacagacaga	9	8	9	15	1	2	3	0	0	2	3	5	4	3	4	4	2	1	1	4	2	1	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:17763482C>A	ENST00000428389.2	-	13	1660	c.1661G>T	c.(1660-1662)cGg>cTg	p.R554L	UNC13A_ENST00000551649.1_Missense_Mutation_p.R466L|UNC13A_ENST00000550896.1_Missense_Mutation_p.R466L|UNC13A_ENST00000519716.2_Missense_Mutation_p.R466L|UNC13A_ENST00000552293.1_Missense_Mutation_p.R466L|UNC13A_ENST00000252773.7_Missense_Mutation_p.R466L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	466					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCCTTCTCCCCGGGCCTGCAG	0.572													101	198					1.43872e-54	8.88006e-54	1	0	A	17763482	C	A	17763482	3	1	110	1	0	0	0	0	1	0	0	0	17080	652	23	3	3838	3	UNC13A	19	17763482	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	454399	17763482	41365501	132	21085											
ZNF493	284443	broad.mit.edu	37	chr19	21606219	21606219	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaccaggactcaaaccttaCtacacataagagaattcata	18	9	4	10	0	2	1	2	0	0	1	2	3	2	2	2	1	4	0	2	1	7	6			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:21606219C>G	ENST00000392288.2	+	4	867	c.758C>G	c.(757-759)aCt>aGt	p.T253S	ZNF493_ENST00000355504.4_Missense_Mutation_p.T125S|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TCAAACCTTACTACACATAAG	0.373													13	36					0	0	0	0	G	21606219	C	G	21606219	3	3	110	1	0	0	0	0	1	0	0	0	18039	565	20	4	835	4	ZNF493	19	21606219	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	3842737	21606219	37522764	133	21086											
ZNF208	7757	broad.mit.edu	37	chr19	22154308	22154308	+	Frame_Shift_Del	DEL	T	T	-																															attgagaacataacaaagccTttgccacattcttcacattt																										TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:22154308delT	ENST00000397126.4	-	4	3676	c.3528delA	c.(3526-3528)aafs	p.K1176fs	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAACAAAGCCTTTGCCACATT	0.383													10	66	---	---	---	---					-	22154308	T	-	22154308	7	5	110	1	0	1	0	1	0	0	0	0	17861	1606	56	0	318	0	ZNF208	19	22154308	Frame_Shift_Del	DEL	T	TCGA-CN-6997-01A-11D-2012-08	548089	22154308	36974675	134	21087											
ZNF675	171392	broad.mit.edu	37	chr19	23837318	23837318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgaaacattttgctctgCatagttggtaaacattggtt	11	16	8	6	0	1	1	0	1	1	0	1	1	1	1	0	2	4	5	0	2	4	8			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:23837318C>A	ENST00000359788.4	-	4	585	c.417G>T	c.(415-417)atG>atT	p.M139I	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	139					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTTGCTCTGCATAGTTGGTA	0.299													28	31					6.32553e-13	3.59475e-12	1	0	A	23837318	C	A	23837318	3	1	110	1	0	0	0	0	1	0	0	0	18177	710	25	4	1293	4	ZNF675	19	23837318	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	1683010	23837318	35291665	135	21088											
SUPT5H	6829	broad.mit.edu	37	chr19	39964118	39964118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcagccgcactcctgccCagagtggggcctgggacccc	6	5	14	16	1	0	1	0	0	0	1	1	2	1	2	6	4	2	2	6	4	0	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:39964118C>A	ENST00000599117.1	+	26	2816	c.2449C>A	c.(2449-2451)Cag>Aag	p.Q817K	SUPT5H_ENST00000432763.2_Missense_Mutation_p.Q817K|SUPT5H_ENST00000402194.2_Missense_Mutation_p.Q813K|SUPT5H_ENST00000598725.1_Missense_Mutation_p.Q817K|SUPT5H_ENST00000359191.6_Missense_Mutation_p.Q813K			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	817	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACTCCTGCCCAGAGTGGGGC	0.622													29	14					7.26314e-15	4.15291e-14	1	0	A	39964118	C	A	39964118	3	1	110	1	0	0	0	0	1	0	0	0	15489	595	21	4	2543	4	SUPT5H	19	39964118	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	16126800	39964118	19164865	136	21089											
CADM4	199731	broad.mit.edu	37	chr19	44127586	44127586	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actggcttcgtgggtcagatAggaacctgagggggtgacag	9	8	17	7	1	1	3	1	2	0	1	2	4	1	4	1	5	1	1	1	5	2	2			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:44127586A>T	ENST00000222374.2	-	9	1111	c.1063T>A	c.(1063-1065)Tat>Aat	p.Y355N		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	355					cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TGGGTCAGATAGGAACCTGAG	0.537													82	20					0	0	0	0	T	44127586	A	T	44127586	3	4	110	1	0	0	0	0	1	0	0	0	2594	420	15	5	107	5	CADM4	19	44127586	Missense_Mutation	SNP	A	TCGA-CN-6997-01A-11D-2012-08	4163468	44127586	15001397	137	21090											
ZC3H4	23211	broad.mit.edu	37	chr19	47584783	47584783	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattaccttatccaagagcTccctcgtctcttcggtcaga	9	12	6	14	2	2	2	1	0	1	2	7	2	4	2	3	1	2	1	3	1	3	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:47584783T>A	ENST00000253048.5	-	11	1464	c.1427A>T	c.(1426-1428)gAg>gTg	p.E476V	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	476							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ATCCAAGAGCTCCCTCGTCTC	0.577													22	12					0	0	0	0	A	47584783	T	A	47584783	3	1	110	1	0	0	0	0	1	0	0	0	17665	1551	54	5	2504	5	ZC3H4	19	47584783	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	3457197	47584783	11544200	138	21091											
CD33	945	broad.mit.edu	37	chr19	51728579	51728579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactttcttccatcccatacCctactacgacaagaactccc	11	10	2	18	1	1	1	0	0	1	1	4	2	4	1	4	0	4	0	4	0	5	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:51728579C>T	ENST00000262262.4	+	2	164	c.143C>T	c.(142-144)cCc>cTc	p.P48L	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.P48L	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	48	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CATCCCATACCCTACTACGAC	0.517													11	66					0	0	0	0	T	51728579	C	T	51728579	3	4	110	1	0	0	0	0	1	0	0	0	3034	623	22	4	149	4	CD33	19	51728579	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	4143796	51728579	7400404	139	21092											
ZNF677	342926	broad.mit.edu	37	chr19	53740901	53740901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcatgaccccaaaggtgtGaacgctggataaatgcctta	12	11	9	9	1	1	2	1	2	0	0	1	3	1	3	3	2	2	1	3	2	5	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:53740901G>A	ENST00000333952.4	-	5	1244	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	ZNF677_ENST00000598513.1_Missense_Mutation_p.S360L			Q86XU0	ZN677_HUMAN	zinc finger protein 677	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CCAAAGGTGTGAACGCTGGAT	0.393													38	13					0	0	0	0	A	53740901	G	A	53740901	3	1	110	1	0	0	0	0	1	0	0	0	18179	1294	45	2	679	2	ZNF677	19	53740901	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	2012322	53740901	5388082	140	21093											
PLCB4	5332	broad.mit.edu	37	chr20	9353027	9353027	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatttgtcctcggacagaTatagaagatcttttcaaaaa	16	12	7	6	1	2	4	1	0	1	4	4	5	3	5	1	1	0	0	1	1	6	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr20:9353027T>A	ENST00000378501.2	+	8	678	c.663T>A	c.(661-663)gaT>gaA	p.D221E	PLCB4_ENST00000334005.3_Missense_Mutation_p.D221E|PLCB4_ENST00000378473.3_Missense_Mutation_p.D221E|PLCB4_ENST00000378493.1_Missense_Mutation_p.D221E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.D221E|PLCB4_ENST00000414679.2_Missense_Mutation_p.D221E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	221					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTCGGACAGATATAGAAGATC	0.308													14	36					0	0	0	0	A	9353027	T	A	9353027	3	1	110	1	0	0	0	0	1	0	0	0	12102	1403	49	5	693	5	PLCB4	20	9353027	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08		9353027	53672493	141	21094											
NAA20	51126	broad.mit.edu	37	chr20	20013295	20013295	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagcctgatgaggacgcttAtggtaagctcccttccatgg	8	10	13	10	1	0	2	0	2	0	0	2	4	2	4	3	4	2	3	3	4	2	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr20:20013295A>G	ENST00000398602.2	+	5	1048	c.413A>G	c.(412-414)tAt>tGt	p.Y138C	NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Missense_Mutation_p.Y150C|NAA20_ENST00000310450.4_Intron	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	150	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						GAGGACGCTTATGGTAAGCTC	0.408													25	31					0	0	0	0	G	20013295	A	G	20013295	3	3	110	1	0	0	0	0	1	0	0	0	10190	449	16	5	488	5	NAA20	20	20013295	Missense_Mutation	SNP	A	TCGA-CN-6997-01A-11D-2012-08	10660268	20013295	43012225	142	21095											
CD93	22918	broad.mit.edu	37	chr20	23065386	23065386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctcctttgtcctcctcatCggggggcccagatggtggtc	3	12	12	14	1	2	1	1	0	1	1	7	1	4	1	4	5	0	0	4	5	0	1	rs142122866		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr20:23065386C>T	ENST00000246006.4	-	1	1591	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	482					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCTCCTCATCGGGGGGCCCA	0.657													35	40					0	0	0	0	T	23065386	C	T	23065386	3	4	110	1	0	0	0	0	1	0	0	0	3076	884	31	1	522	1	CD93	20	23065386	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	3052091	23065386	39960134	143	21096											
NINL	22981	broad.mit.edu	37	chr20	25485703	25485703	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcctcagaatcccaggTctgcagctgtcctgaagcaa	12	8	9	12	0	2	2	1	1	1	1	5	2	5	2	3	1	3	3	3	1	4	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr20:25485703T>C	ENST00000278886.6	-	6	602	c.529A>G	c.(529-531)Acc>Gcc	p.T177A	NINL_ENST00000422516.1_Missense_Mutation_p.T177A	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	177					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GAATCCCAGGTCTGCAGCTGT	0.572													4	9					0	0	0	0	C	25485703	T	C	25485703	3	2	110	1	0	0	0	0	1	0	0	0	10490	1667	58	5	3695	5	NINL	20	25485703	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08	2420317	25485703	37539817	144	21097											
PHACTR3	116154	broad.mit.edu	37	chr20	58342414	58342414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgctgcccactccgccaCccaaggcaagctccaaaacc	11	4	6	20	1	0	0	0	0	0	0	2	0	2	0	6	1	4	3	6	1	4	0			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr20:58342414C>T	ENST00000371015.1	+	5	1182	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P198S|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P236S|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P198S|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P198S	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	239	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CACTCCGCCACCCAAGGCAAG	0.582													21	24					0	0	0	0	T	58342414	C	T	58342414	3	4	110	1	0	0	0	0	1	0	0	0	11883	507	18	4	733	4	PHACTR3	20	58342414	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	32856711	58342414	4683106	145	21098											
PPP1R3D	5509	broad.mit.edu	37	chr20	58514574	58514577	+	Frame_Shift_Del	DEL	TTGA	TTGA	-																															tgctgcagcacaggtccgagTtgattgcgagccgcgacagc																										TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr20:58514574_58514577delTTGA	ENST00000370996.3	-	1	775_778	c.410_413delTCAA	c.(409-414)acfs	p.IN137fs	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	137					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CAGGTCCGAGTTGATTGCGAGCCG	0.681													22	26	---	---	---	---					-	58514577	TTGA	-	58514574	7	5	110	1	0	1	0	1	0	0	0	0	12450	1725	60	0	490	0	PPP1R3D	20	58514574	Frame_Shift_Del	DEL	TTGA	TCGA-CN-6997-01A-11D-2012-08	172160	58514574	4510946	146	21099											
NCAM2	4685	broad.mit.edu	37	chr21	22849748	22849748	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgggatattctgaaccgaCagtttatgaattcagcatgc	12	13	9	7	1	2	2	1	2	1	0	2	4	2	3	1	1	3	2	1	1	4	6			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr21:22849748C>G	ENST00000400546.1	+	15	2282	c.2033C>G	c.(2032-2034)aCa>aGa	p.T678R	NCAM2_ENST00000284894.7_Missense_Mutation_p.T536R	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	678	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCTGAACCGACAGTTTATGAA	0.368													16	14					0	0	0	0	G	22849748	C	G	22849748	3	3	110	1	0	0	0	0	1	0	0	0	10273	478	17	4	2091	4	NCAM2	21	22849748	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08		22849748	25280147	147	21100											
GART	2618	broad.mit.edu	37	chr21	34877966	34877966	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggactaggtcaattgcaCtgtcaaattctacacgattt	13	12	7	9	1	3	0	2	0	1	0	3	2	3	1	0	2	2	1	0	2	5	5			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr21:34877966C>G	ENST00000381831.3	-	20	2890	c.2627G>C	c.(2626-2628)aGt>aCt	p.S876T	GART_ENST00000543717.1_Missense_Mutation_p.S428T|GART_ENST00000381815.4_Missense_Mutation_p.S876T|GART_ENST00000381839.3_Missense_Mutation_p.S876T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	876	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GTCAATTGCACTGTCAAATTC	0.338													22	6					0	0	0	0	G	34877966	C	G	34877966	3	3	110	1	0	0	0	0	1	0	0	0	6292	565	20	4	417	4	GART	21	34877966	Missense_Mutation	SNP	C	TCGA-CN-6997-01A-11D-2012-08	12028218	34877966	13251929	148	21101											
PI4KA	5297	broad.mit.edu	37	chr22	21178651	21178651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatccctataggccacatcaGacagcagagttaccaagcag	14	6	9	12	0	1	2	1	0	0	2	2	3	2	2	3	1	3	3	3	1	4	3			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr22:21178651G>A	ENST00000255882.6	-	4	505	c.419C>T	c.(418-420)tCt>tTt	p.S140F	PI4KA_ENST00000572273.1_Missense_Mutation_p.S82F	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	82					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)			GGCCACATCAGACAGCAGAGT	0.443													18	33					0	0	0	0	A	21178651	G	A	21178651	3	1	110	1	0	0	0	0	1	0	0	0	11945	942	33	2	6097	2	PI4KA	22	21178651	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08		21178651	30125915	149	21102											
THOC2	57187	broad.mit.edu	37	chrX	122774415	122774415	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaaatggttggattgcTgtggctcaacttcccaattt	12	13	8	8	0	1	0	1	0	0	0	2	1	2	1	1	3	3	3	1	3	5	4			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chrX:122774415T>C	ENST00000245838.8	-	16	1751	c.1720A>G	c.(1720-1722)Agc>Ggc	p.S574G	THOC2_ENST00000355725.4_Missense_Mutation_p.S574G|THOC2_ENST00000491737.1_Missense_Mutation_p.S459G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	574					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTTGGATTGCTGTGGCTCAAC	0.383													60	5					0	0	0	0	C	122774415	T	C	122774415	3	2	110	1	0	0	0	0	1	0	0	0	15959	1580	55	5	3153	5	THOC2	23	122774415	Missense_Mutation	SNP	T	TCGA-CN-6997-01A-11D-2012-08		122774415	32496145	150	21103											
GPR112	139378	broad.mit.edu	37	chrX	135404984	135404984	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggatttttttggaagaggtGacacatatgtaagcctgata	12	14	11	4	0	0	3	0	2	0	1	0	5	0	5	1	3	1	1	1	3	4	6			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chrX:135404984G>C	ENST00000394143.1	+	5	409	c.118G>C	c.(118-120)Gac>Cac	p.D40H	GPR112_ENST00000287534.4_5'UTR|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.D40H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	40					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGAAGAGGTGACACATATGT	0.388													38	9					0	0	0	0	C	135404984	G	C	135404984	3	2	110	1	0	0	0	0	1	0	0	0	6678	1290	45	2	124	2	GPR112	23	135404984	Missense_Mutation	SNP	G	TCGA-CN-6997-01A-11D-2012-08	12630569	135404984	19865576	151	21104											
DDI2	84301	broad.mit.edu	37	chr1	15956839	15956839	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttaccccgaatagatttCagtagtatagctgtgcctgg	10	12	10	9	1	1	1	1	0	0	1	1	3	1	1	3	1	3	3	3	1	6	6			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:15956839C>T	ENST00000480945.1	+	3	459	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	96					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAATAGATTTCAGTAGTATAG	0.463													30	56					0	0	0	0	T	15956839	C	T	15956839	2	4	111	1	0	0	0	0	0	0	0	1	4361	825	29	2		2	DDI2	1	15956839	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08		15956839	233293782	1	21105											
CDC42	998	broad.mit.edu	37	chr1	22408230	22408230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaggtttttgacaactatGcagtcacagttatgattggt	10	17	9	5	0	1	2	1	2	0	0	1	2	1	2	0	2	2	3	0	2	4	7			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:22408230G>A	ENST00000344548.3	+	4	372	c.121G>A	c.(121-123)Gca>Aca	p.A41T	CDC42_ENST00000421089.2_Missense_Mutation_p.A83T|CDC42_ENST00000400259.1_Missense_Mutation_p.A41T|CDC42_ENST00000315554.8_Missense_Mutation_p.A41T|CDC42_ENST00000498236.1_3'UTR	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	41					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TGACAACTATGCAGTCACAGT	0.348													35	63					0	0	0	0	A	22408230	G	A	22408230	3	1	111	1	0	0	0	0	1	0	0	0	3100	1319	46	4	127	4	CDC42	1	22408230	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	6451391	22408230	226842391	2	21106											
EPHA10	284656	broad.mit.edu	37	chr1	38227344	38227344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgccacgcatgcgcccaCgtcctgaaaggccaggtgga	10	4	13	14	4	0	1	0	1	0	0	1	2	1	2	4	3	2	1	4	3	2	0			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:38227344C>T	ENST00000373048.4	-	3	582	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	EPHA10_ENST00000319637.6_Missense_Mutation_p.V195M|EPHA10_ENST00000427468.2_Missense_Mutation_p.V195M	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	195						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)				CATGCGCCCACGTCCTGAAAG	0.682													18	43					0	0	0	0	T	38227344	C	T	38227344	3	4	111	1	0	0	0	0	1	0	0	0	5204	536	19	1	2541	1	EPHA10	1	38227344	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	15819114	38227344	211023277	3	21107											
MAST2	23139	broad.mit.edu	37	chr1	46383114	46383114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccatttagtgctgattgtGctttggctacttctcctctt	4	19	7	11	0	2	1	0	1	2	0	4	1	3	1	2	1	3	3	2	1	2	7			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:46383114G>A	ENST00000372008.1	+	2	231	c.64G>A	c.(64-66)Gct>Act	p.A22T	MAST2_ENST00000372009.2_Intron|MAST2_ENST00000361297.2_Intron			Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	0					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGCTGATTGTGCTTTGGCTAC	0.532													45	48					0	0	0	0	A	46383114	G	A	46383114	3	1	111	1	0	0	0	0	1	0	0	0	9394	1334	46	4		4	MAST2	1	46383114	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	8155770	46383114	202867507	4	21108											
GLIS1	148979	broad.mit.edu	37	chr1	53972293	53972293	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgcatgtgggggctccttCaggtgtctgtgtagatggag	5	11	18	7	1	2	1	1	0	1	1	3	2	3	2	1	5	0	3	1	5	1	2			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:53972293C>T	ENST00000312233.2	-	10	2428	c.1862G>A	c.(1861-1863)tGa>tAa	p.*621*		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	0					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGGCTCCTTCAGGTGTCTGT	0.642													20	40					0	0	0	0	T	53972293	C	T	53972293	2	4	111	1	0	0	0	0	0	0	0	1	6496	837	29	2		2	GLIS1	1	53972293	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08	7589179	53972293	195278328	5	21109											
PRKAA2	5563	broad.mit.edu	37	chr1	57161705	57161705	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgatgatgagcatgtacctAcgttatttaagaagatccga	13	13	9	6	2	0	5	0	3	0	2	1	6	1	5	2	0	3	3	2	0	5	6			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:57161705A>G	ENST00000371244.4	+	6	727	c.661A>G	c.(661-663)Acg>Gcg	p.T221A		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	221	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GCATGTACCTACGTTATTTAA	0.448													137	179					0	0	0	0	G	57161705	A	G	57161705	3	3	111	1	0	0	0	0	1	0	0	0	12574	391	14	5	683	5	PRKAA2	1	57161705	Missense_Mutation	SNP	A	TCGA-CN-6998-01A-23D-2012-08	3189412	57161705	192088916	6	21110											
LRRC8B	23507	broad.mit.edu	37	chr1	90049999	90049999	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactgatcagctgtgaccTggaacgcatcccacattcca	12	8	8	13	1	1	3	1	2	0	1	3	4	3	4	3	1	3	2	3	1	2	1			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:90049999T>C	ENST00000330947.2	+	5	2150	c.1790T>C	c.(1789-1791)cTg>cCg	p.L597P	LRRC8B_ENST00000439853.1_Missense_Mutation_p.L597P|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.L597P	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	597						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGCTGTGACCTGGAACGCATC	0.403													3	52					0	0	0	0	C	90049999	T	C	90049999	3	2	111	1	0	0	0	0	1	0	0	0	9086	1580	55	5	1792	5	LRRC8B	1	90049999	Missense_Mutation	SNP	T	TCGA-CN-6998-01A-23D-2012-08	32888294	90049999	159200622	7	21111											
NBPF9	400818	broad.mit.edu	37	chr1	144814712	144814712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggttcacgctcaggaacGagagctgacccagttaaggg	10	7	13	11	2	2	2	2	1	0	1	2	4	2	3	2	3	2	4	2	3	2	2			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:144814712G>A	ENST00000440491.2	+	3	350	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	NBPF9_ENST00000338347.4_Missense_Mutation_p.R117Q|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						GCTCAGGAACGAGAGCTGACC	0.507													87	129					0	0	0	0	A	144814712	G	A	144814712	3	1	111	1	0	0	0	0	1	0	0	0	10269	1058	37	1	1152	1	NBPF9	1	144814712	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	54764713	144814712	104435909	8	21112											
C1orf43	25912	broad.mit.edu	37	chr1	154179930	154179930	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagagtccttcagctccgtCacagagtactctccaatgtg	10	10	8	13	1	3	2	2	0	1	2	6	2	5	2	3	0	2	2	3	0	3	2			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:154179930C>G	ENST00000368521.5	-	7	959	c.761G>C	c.(760-762)tGa>tCa	p.*254S	C1orf43_ENST00000368519.1_Nonstop_Mutation_p.*236S|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000350592.3_Nonstop_Mutation_p.*220S|C1orf43_ENST00000362076.4_Nonstop_Mutation_p.*202S	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	0						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TCAGCTCCGTCACAGAGTACT	0.517													3	159					0	0	0	0	G	154179930	C	G	154179930	4	3	111	1	0	0	0	0	0	0	0	0	2060	837	29	2	4	2	C1orf43	1	154179930	Nonstop_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	9365218	154179930	95070691	9	21113											
BCAN	63827	broad.mit.edu	37	chr1	156628471	156628471	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatctgccgctgatccgatgCcaagagaacggtcgttggga	10	8	13	10	4	1	2	0	1	1	1	3	5	2	3	3	2	3	2	3	2	3	1			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:156628471C>T	ENST00000329117.4	+	13	2910	c.2574C>T	c.(2572-2574)tgC>tgT	p.C858C	BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	858	Sushi.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGATCCGATGCCAAGAGAACG	0.632													32	82					0	0	0	0	T	156628471	C	T	156628471	2	4	111	1	0	0	0	0	0	0	0	1	1349	747	26	4		4	BCAN	1	156628471	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08	2448541	156628471	92622150	10	21114											
ASTN1	460	broad.mit.edu	37	chr1	176833525	176833525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgcccagtcaagtccgtaGggtttgatctcgctgtagcg	6	11	12	12	4	2	1	1	1	1	0	5	1	4	1	3	1	1	4	3	1	3	3			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:176833525G>A	ENST00000367654.2	-	23	3817	c.3804C>T	c.(3802-3804)ccC>ccT	p.P1268P	ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Silent_p.P1260P			O14525	ASTN1_HUMAN	astrotactin 1	1268					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						CAAGTCCGTAGGGTTTGATCT	0.572													31	83					0	0	0	0	A	176833525	G	A	176833525	2	1	111	1	0	0	0	0	0	0	0	1	1068	987	35	4		4	ASTN1	1	176833525	Silent	SNP	G	TCGA-CN-6998-01A-23D-2012-08	20205054	176833525	72417096	11	21115											
KCNT2	343450	broad.mit.edu	37	chr1	196311261	196311262	+	Frame_Shift_Ins	INS	-	-	A																															ctctttccttcatattcagcINSaaaaaatgtactttcttcca																										TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:196311261_196311262insA	ENST00000367433.5	-	15	1601_1602	c.1500_1501insT	c.(1498-1503)ttctgafs	p.*501fs	KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000451324.2_Frame_Shift_Ins_p.*112fs|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Frame_Shift_Ins_p.*501fs			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	501	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCATATTCAGCAAAAAATGTAC	0.391													16	34	---	---	---	---					A	196311262	-	A	196311261	7	5	111	1	0	1	1	0	0	0	0	0	8145	710	25	0	1962	0	KCNT2	1	196311261	Frame_Shift_Ins	INS	-	TCGA-CN-6998-01A-23D-2012-08	19477736	196311261	52939360	12	21116											
KCNH1	3756	broad.mit.edu	37	chr1	210971026	210971026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactggccagccggaaggccGggtgctccttgaacaccttg	7	7	13	14	2	0	1	0	1	0	0	1	2	1	2	5	4	3	1	5	4	2	2			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:210971026G>A	ENST00000367007.4	-	9	1827	c.1658C>T	c.(1657-1659)cCg>cTg	p.P553L	KCNH1_ENST00000271751.4_Missense_Mutation_p.P580L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	580					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCGGAAGGCCGGGTGCTCCTT	0.607													22	47					0	0	0	0	A	210971026	G	A	210971026	3	1	111	1	0	0	0	0	1	0	0	0	8084	1116	39	1	1242	1	KCNH1	1	210971026	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	14659765	210971026	38279595	13	21117											
RSAD2	91543	broad.mit.edu	37	chr2	7027109	7027109	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcctgtgacagctttgaCgaggaagtcaatgtccttat	10	13	9	9	1	2	2	1	2	1	0	4	4	3	3	2	1	1	1	2	1	3	2	rs111620392	byFrequency	TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:7027109C>T	ENST00000382040.3	+	3	688	c.552C>T	c.(550-552)gaC>gaT	p.D184D	RSAD2_ENST00000541728.1_Silent_p.D77D	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	184					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		ACAGCTTTGACGAGGAAGTCA	0.458													15	37					0	0	0	0	T	7027109	C	T	7027109	2	4	111	1	0	0	0	0	0	0	0	1	13780	535	19	1		1	RSAD2	2	7027109	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08		7027109	236172264	14	21118											
FOSL2	2355	broad.mit.edu	37	chr2	28627022	28627022	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgcattcatccccaccAtcaacgccatcacgaccagc	11	6	6	18	2	3	0	3	0	0	0	4	1	4	0	5	0	3	2	5	0	1	1			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:28627022A>G	ENST00000264716.4	+	2	1014	c.151A>G	c.(151-153)Atc>Gtc	p.I51V	FOSL2_ENST00000545753.1_Missense_Mutation_p.I12V|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Missense_Mutation_p.I26V	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	51					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CATCCCCACCATCAACGCCAT	0.517													27	98					0	0	0	0	G	28627022	A	G	28627022	3	3	111	1	0	0	0	0	1	0	0	0	6033	217	8	5	157	5	FOSL2	2	28627022	Missense_Mutation	SNP	A	TCGA-CN-6998-01A-23D-2012-08	21599913	28627022	214572351	15	21119											
LIMS1	3987	broad.mit.edu	37	chr2	109292348	109292348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacaggaaggagctgactgCcgatgcacgggagctgaaag	12	4	17	8	2	0	2	0	2	0	0	0	7	0	6	1	4	4	3	1	4	2	0			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:109292348C>T	ENST00000393310.1	+	6	676	c.509C>T	c.(508-510)gCc>gTc	p.A170V	LIMS1_ENST00000410093.1_Missense_Mutation_p.A174V|LIMS1_ENST00000544547.1_Missense_Mutation_p.A182V|LIMS1_ENST00000338045.3_Missense_Mutation_p.A170V|LIMS1_ENST00000542845.1_Missense_Mutation_p.A232V|LIMS1_ENST00000332345.6_Missense_Mutation_p.A170V|LIMS1_ENST00000409441.1_Missense_Mutation_p.A207V	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	170	LIM zinc-binding 3.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						GAGCTGACTGCCGATGCACGG	0.527													4	93					0	0	0	0	T	109292348	C	T	109292348	3	4	111	1	0	0	0	0	1	0	0	0	8857	739	26	4	527	4	LIMS1	2	109292348	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	80665326	109292348	133907025	16	21120											
CNTNAP5	129684	broad.mit.edu	37	chr2	125282021	125282021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattctggaaatagctactAttttggaggtaaattctcca	12	16	7	6	0	2	0	0	0	2	0	3	2	2	2	1	3	2	2	1	3	7	9			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:125282021A>G	ENST00000431078.1	+	9	1830	c.1466A>G	c.(1465-1467)tAt>tGt	p.Y489C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	489	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATAGCTACTATTTTGGAGGT	0.448													16	19					0	0	0	0	G	125282021	A	G	125282021	3	3	111	1	0	0	0	0	1	0	0	0	3680	449	16	5	1500	5	CNTNAP5	2	125282021	Missense_Mutation	SNP	A	TCGA-CN-6998-01A-23D-2012-08	15989673	125282021	117917352	17	21121											
IWS1	55677	broad.mit.edu	37	chr2	128255753	128255753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttatcatcagaatctgaatCttctgcttcttttacctgtg	8	18	6	9	0	6	2	2	1	4	1	6	2	6	2	1	0	2	2	1	0	4	5			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:128255753C>T	ENST00000295321.4	-	6	1787	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N	IWS1_ENST00000455721.2_Intron|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	510					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GAATCTGAATCTTCTGCTTCT	0.303													34	44					0	0	0	0	T	128255753	C	T	128255753	3	4	111	1	0	0	0	0	1	0	0	0	7984	913	32	2	967	2	IWS1	2	128255753	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	2973732	128255753	114943620	18	21122											
LCT	3938	broad.mit.edu	37	chr2	136575285	136575285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacacctgagcccggaggcCgcaaagcagggcgacgtcag	10	3	15	13	4	1	1	1	1	0	0	1	3	1	2	3	3	3	3	3	3	2	1			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:136575285C>T	ENST00000264162.2	-	6	1343	c.1333G>A	c.(1333-1335)Ggc>Agc	p.G445S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	445	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G445S(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCCCGGAGGCCGCAAAGCAGG	0.642													33	81					0	0	0	0	T	136575285	C	T	136575285	3	4	111	1	0	0	0	0	1	0	0	0	8746	652	23	1	4498	1	LCT	2	136575285	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	8319532	136575285	106624088	19	21123											
KIF5C	3800	broad.mit.edu	37	chr2	149868101	149868101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccaagcccatccgccccGgacactacccggcctcatct	8	5	7	21	3	2	0	1	0	1	0	3	1	3	1	7	2	3	0	7	2	2	1			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:149868101G>A	ENST00000435030.1	+	25	3153	c.2785G>A	c.(2785-2787)Gga>Aga	p.G929R	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.G834R|KIF5C_ENST00000397413.1_Missense_Mutation_p.G697R			O60282	KIF5C_HUMAN	kinesin family member 5C	929	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CATCCGCCCCGGACACTACCC	0.498													4	82					0	0	0	0	A	149868101	G	A	149868101	3	1	111	1	0	0	0	0	1	0	0	0	8358	1117	39	1	2805	1	KIF5C	2	149868101	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	13292816	149868101	93331272	20	21124											
HECW2	57520	broad.mit.edu	37	chr2	197182030	197182030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtccaccctctggtacCggctaacatcctggcgcact	6	9	8	18	3	1	0	0	0	1	0	4	0	3	0	5	3	2	3	5	3	2	2			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:197182030C>T	ENST00000260983.2	-	10	2584	c.2402G>A	c.(2401-2403)cGg>cAg	p.R801Q	HECW2_ENST00000409111.1_Missense_Mutation_p.R445Q	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	801	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCTGGTACCGGCTAACATC	0.517													6	14					0	0	0	0	T	197182030	C	T	197182030	3	4	111	1	0	0	0	0	1	0	0	0	7093	652	23	1	2396	1	HECW2	2	197182030	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	47313929	197182030	46017343	21	21125											
FARSB	10056	broad.mit.edu	37	chr2	223520788	223520788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcttcacgctgacagtcGgcatggtgtgtcgaactcac	8	9	11	13	4	2	1	2	1	0	0	4	2	2	1	0	2	1	3	0	2	1	1			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:223520788G>A	ENST00000281828.6	-	1	268	c.5C>T	c.(4-6)cCg>cTg	p.P2L		NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	2					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GCTGACAGTCGGCATGGTGTG	0.627													10	6					0	0	0	0	A	223520788	G	A	223520788	3	1	111	1	0	0	0	0	1	0	0	0	5725	1116	39	1	1832	1	FARSB	2	223520788	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	26338758	223520788	19678585	22	21126											
NEU2	4759	broad.mit.edu	37	chr2	233899356	233899356	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccacctccgagccagggtCcaggcccagagcaccaatga	11	3	11	16	1	0	2	0	1	0	1	2	3	2	2	7	2	3	1	7	2	1	0			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:233899356C>T	ENST00000233840.3	+	2	732	c.732C>T	c.(730-732)gtC>gtT	p.V244V		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	244							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GAGCCAGGGTCCAGGCCCAGA	0.652													18	52					0	0	0	0	T	233899356	C	T	233899356	2	4	111	1	0	0	0	0	0	0	0	1	10412	842	30	2		2	NEU2	2	233899356	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08	10378568	233899356	9300017	23	21127											
STK25	10494	broad.mit.edu	37	chr2	242438109	242438110	+	Frame_Shift_Ins	INS	-	-	A																															ccctctgacttccagcgcttINSatagcggtcgatgagctccg																										TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:242438109_242438110insA	ENST00000316586.4	-	8	1210_1211	c.861_862insT	c.(859-864)taagcgfs	p.*A287fs	STK25_ENST00000401869.1_Frame_Shift_Ins_p.*A287fs|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405883.3_Frame_Shift_Ins_p.*A210fs|STK25_ENST00000405585.1_Frame_Shift_Ins_p.*A210fs|STK25_ENST00000543554.1_Frame_Shift_Ins_p.*A193fs|STK25_ENST00000535007.1_Frame_Shift_Ins_p.*A193fs|STK25_ENST00000403346.3_Frame_Shift_Ins_p.*A287fs	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN	serine/threonine kinase 25	287					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTCCAGCGCTTATAGCGGTCGA	0.584													27	104	---	---	---	---					A	242438110	-	A	242438109	7	5	111	1	0	1	1	0	0	0	0	0	15384	1763	61	0	438	0	STK25	2	242438109	Frame_Shift_Ins	INS	-	TCGA-CN-6998-01A-23D-2012-08	8538753	242438109	761264	24	21128											
SUSD5	26032	broad.mit.edu	37	chr3	33195134	33195134	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggtttcaggttcacctggGaccaattttacaccactgtg	8	14	9	10	0	2	0	2	0	0	0	2	1	2	1	3	3	1	2	3	3	2	5			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:33195134G>A	ENST00000309558.3	-	5	1407	c.990C>T	c.(988-990)gtC>gtT	p.V330V		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	330					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTTCACCTGGGACCAATTTTA	0.517													17	12					0	0	0	0	A	33195134	G	A	33195134	2	1	111	1	0	0	0	0	0	0	0	1	15501	1161	41	2		2	SUSD5	3	33195134	Silent	SNP	G	TCGA-CN-6998-01A-23D-2012-08		33195134	164827296	25	21129											
RHOA	387	broad.mit.edu	37	chr3	49412905	49412905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatatctgccacatagttctCaaacactgtgggcacataca	13	10	7	11	0	2	0	1	0	2	0	3	1	2	0	1	1	3	2	1	1	4	4			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:49412905C>G	ENST00000418115.1	-	2	502	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q|RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	40					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	p.E40Q(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ACATAGTTCTCAAACACTGTG	0.438													87	46					0	0	0	0	G	49412905	C	G	49412905	3	3	111	1	0	0	0	0	1	0	0	0	13414	835	29	2	479	2	RHOA	3	49412905	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	16217771	49412905	148609525	26	21130											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50683618	50683618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caacacgggccaggccatctCcccggggatgaagaggagga	11	3	15	12	2	1	2	0	1	1	1	2	5	1	5	4	6	1	0	4	6	2	0			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:50683618C>T	ENST00000446044.1	+	10	1348	c.752C>T	c.(751-753)tCc>tTc	p.S251F	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.S251F	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	251	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CAGGCCATCTCCCCGGGGATG	0.597													94	58					0	0	0	0	T	50683618	C	T	50683618	3	4	111	1	0	0	0	0	1	0	0	0	9359	855	30	2	778	2	MAPKAPK3	3	50683618	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	1270713	50683618	147338812	27	21131											
CCDC66	285331	broad.mit.edu	37	chr3	56651600	56651600	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattcatctcatcaagaaacGgagtcaaagttgaggtggca	14	9	10	8	1	4	2	4	1	1	1	5	3	4	3	0	3	1	2	0	3	3	2			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:56651600G>A	ENST00000394672.3	+	14	2374	c.2304G>A	c.(2302-2304)acG>acA	p.T768T	CCDC66_ENST00000436465.2_Silent_p.T768T|CCDC66_ENST00000326595.7_Silent_p.T734T	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	768										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATCAAGAAACGGAGTCAAAGT	0.378													10	15					0	0	0	0	A	56651600	G	A	56651600	2	1	111	1	0	0	0	0	0	0	0	1	2865	1103	39	1		1	CCDC66	3	56651600	Silent	SNP	G	TCGA-CN-6998-01A-23D-2012-08	5967982	56651600	141370830	28	21132											
CNTN3	5067	broad.mit.edu	37	chr3	74315641	74315641	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaacttactggttattcGtggaatcctgatctgttcac	10	14	7	10	1	2	1	1	1	1	0	4	2	3	2	2	2	3	2	2	2	5	4			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:74315641G>A	ENST00000263665.6	-	21	3004	c.2977C>T	c.(2977-2979)Cga>Tga	p.R993*	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	993					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGGTTATTCGTGGAATCCTG	0.428													89	67					0	0	0	0	A	74315641	G	A	74315641	4	1	111	1	0	0	0	0	0	1	0	0	3672	1153	40	1	117	1	CNTN3	3	74315641	Nonsense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	17664041	74315641	123706789	29	21133											
GRAMD1C	54762	broad.mit.edu	37	chr3	113659107	113659107	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttagcctctgatatggtgtCaagagcagaaactattcaga	13	12	9	7	0	3	4	2	1	1	3	3	4	3	4	1	1	3	1	1	1	5	5			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:113659107C>G	ENST00000358160.4	+	17	2315	c.1823C>G	c.(1822-1824)tCa>tGa	p.S608*	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Nonsense_Mutation_p.S441*|GRAMD1C_ENST00000452134.2_Nonsense_Mutation_p.S337*|GRAMD1C_ENST00000440446.2_Nonsense_Mutation_p.S403*	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	608						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GATATGGTGTCAAGAGCAGAA	0.408													53	169					0	0	0	0	G	113659107	C	G	113659107	4	3	111	1	0	0	0	0	0	1	0	0	6799	838	29	2	1889	2	GRAMD1C	3	113659107	Nonsense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	39343466	113659107	84363323	30	21134											
SI	6476	broad.mit.edu	37	chr3	164777066	164777066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcttgtcttccatgtagtCaatatcagtgacctgtgtat	8	18	7	8	0	4	1	2	1	2	0	5	1	5	1	2	0	0	2	2	0	4	6			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:164777066C>G	ENST00000264382.3	-	11	1230	c.1168G>C	c.(1168-1170)Gac>Cac	p.D390H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	390	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCATGTAGTCAATATCAGTG	0.358										HNSCC(35;0.089)			7	52					0	0	0	0	G	164777066	C	G	164777066	3	3	111	1	0	0	0	0	1	0	0	0	14385	826	29	2	4467	2	SI	3	164777066	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	51117959	164777066	33245364	31	21135											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			49	24					0	0	0	0	G	178952085	A	G	178952085	3	3	111	1	0	0	0	0	1	0	0	0	11985	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-CN-6998-01A-23D-2012-08	14175019	178952085	19070345	32	21136											
TP63	8626	broad.mit.edu	37	chr3	189349311	189349311	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagttgaaggaaatgaatTttgaaacttcacggtgtgcc	13	11	11	6	1	1	3	1	3	0	0	1	5	1	4	1	2	2	1	1	2	4	4			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:189349311T>C	ENST00000264731.3	+	1	96	c.7T>C	c.(7-9)Ttt>Ctt	p.F3L	TP63_ENST00000320472.5_Missense_Mutation_p.F3L|TP63_ENST00000418709.2_Missense_Mutation_p.F3L|TP63_ENST00000392460.3_Missense_Mutation_p.F3L|TP63_ENST00000382063.4_Missense_Mutation_p.F3L|TP63_ENST00000440651.2_Missense_Mutation_p.F3L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	3	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GGAAATGAATTTTGAAACTTC	0.378										HNSCC(45;0.13)			73	70					0	0	0	0	C	189349311	T	C	189349311	3	2	111	1	0	0	0	0	1	0	0	0	16487	1841	64	5	9	5	TP63	3	189349311	Missense_Mutation	SNP	T	TCGA-CN-6998-01A-23D-2012-08	10397226	189349311	8673119	33	21137											
KIAA1211	57482	broad.mit.edu	37	chr4	57182124	57182124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacacagagttcacgacctCgtcggacagcgagactgcaa	12	5	10	14	4	1	2	1	0	0	2	3	5	1	3	2	1	2	2	2	1	1	1			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr4:57182124C>T	ENST00000504228.1	+	6	2561	c.2456C>T	c.(2455-2457)tCg>tTg	p.S819L	KIAA1211_ENST00000264229.6_Missense_Mutation_p.S819L|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S812L			Q6ZU35	K1211_HUMAN	KIAA1211	819										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTCACGACCTCGTCGGACAGC	0.537													25	54					0	0	0	0	T	57182124	C	T	57182124	3	4	111	1	0	0	0	0	1	0	0	0	8266	893	31	1	2474	1	KIAA1211	4	57182124	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08		57182124	133972152	34	21138											
AFM	173	broad.mit.edu	37	chr4	74351714	74351714	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaatctgatgtgggatttCtgcctcctttccctaccctg	7	14	8	12	0	2	2	0	1	2	1	4	3	4	3	4	1	2	0	4	1	2	3			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr4:74351714C>T	ENST00000226355.3	+	4	499	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	136	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTGGGATTTCTGCCTCCTTT	0.398													16	39					0	0	0	0	T	74351714	C	T	74351714	2	4	111	1	0	0	0	0	0	0	0	1	361	912	32	2		2	AFM	4	74351714	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08	17169590	74351714	116802562	35	21139											
ENPEP	2028	broad.mit.edu	37	chr4	111397714	111397714	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtgactccagcggggaCggcgggccgggcactgcgcc	4	5	18	14	6	0	1	0	1	0	0	2	2	1	2	3	5	2	1	3	5	0	0			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr4:111397714C>T	ENST00000265162.5	+	1	486	c.144C>T	c.(142-144)gaC>gaT	p.D48D		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	48					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CCAGCGGGGACGGCGGGCCGG	0.637													15	110					0	0	0	0	T	111397714	C	T	111397714	2	4	111	1	0	0	0	0	0	0	0	1	5166	535	19	1		1	ENPEP	4	111397714	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08	37046000	111397714	79756562	36	21140											
MTNR1A	4543	broad.mit.edu	37	chr4	187454891	187454891	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttggtcatcagtggagaCggtttccatttaaccctatc	8	15	9	9	1	2	1	2	0	0	1	4	2	3	1	2	3	1	2	2	3	2	6			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr4:187454891C>T	ENST00000307161.5	-	2	1206	c.1005G>A	c.(1003-1005)ccG>ccA	p.P335P	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	335					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TCAGTGGAGACGGTTTCCATT	0.493													24	68					0	0	0	0	T	187454891	C	T	187454891	2	4	111	1	0	0	0	0	0	0	0	1	10021	523	19	1		1	MTNR1A	4	187454891	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08	76057177	187454891	3699385	37	21141											
TRIP13	9319	broad.mit.edu	37	chr5	908535	908535	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccatcagatgccatccgCgtggtcaatgctgtcttgac	8	10	11	12	2	3	2	2	1	1	1	4	3	4	2	3	1	3	1	3	1	1	1	rs146441673		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:908535C>T	ENST00000166345.3	+	9	1181	c.825C>T	c.(823-825)cgC>cgT	p.R275R		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	275					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			ATGCCATCCGCGTGGTCAATG	0.522													22	65					0	0	0	0	T	908535	C	T	908535	2	4	111	1	0	0	0	0	0	0	0	1	16652	755	27	1		1	TRIP13	5	908535	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08		908535	180006725	38	21142											
MTRR	4552	broad.mit.edu	37	chr5	7870928	7870928	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaggaggtttctgttactAtatgctacacagcagggaca	12	11	11	7	0	1	1	0	1	1	0	1	3	1	3	0	3	4	4	0	3	4	5	rs114427781	by1000genomes	TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:7870928A>G	ENST00000264668.2	+	2	132	c.102A>G	c.(100-102)ctA>ctG	p.L34L	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_Silent_p.L7L|MTRR_ENST00000440940.2_Silent_p.L7L	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	34	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	p.L34L(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TTCTGTTACTATATGCTACAC	0.403													24	30					0	0	0	0	G	7870928	A	G	7870928	2	3	111	1	0	0	0	0	0	0	0	1	10031	436	16	5		5	MTRR	5	7870928	Silent	SNP	A	TCGA-CN-6998-01A-23D-2012-08	6962393	7870928	173044332	39	21143											
MAP1B	4131	broad.mit.edu	37	chr5	71494372	71494372	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggtagaggcctccccGtccacctcttctgctcatac	6	11	7	17	1	4	1	2	0	3	1	7	1	6	1	5	2	2	2	5	2	2	3			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:71494372G>A	ENST00000296755.7	+	5	5488	c.5190G>A	c.(5188-5190)ccG>ccA	p.P1730P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1730						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGCCTCCCCGTCCACCTCTT	0.483													84	121					0	0	0	0	A	71494372	G	A	71494372	2	1	111	1	0	0	0	0	0	0	0	1	9297	1132	40	1		1	MAP1B	5	71494372	Silent	SNP	G	TCGA-CN-6998-01A-23D-2012-08	63623444	71494372	109420888	40	21144											
PDE8B	8622	broad.mit.edu	37	chr5	76704787	76704787	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaagccttggacagagttCtagagattttacggaccaca	12	9	11	9	2	1	2	0	0	1	2	1	6	1	5	2	3	2	1	2	3	3	5			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:76704787C>G	ENST00000264917.5	+	14	1480	c.1435C>G	c.(1435-1437)Cta>Gta	p.L479V	PDE8B_ENST00000340978.3_Missense_Mutation_p.L432V|PDE8B_ENST00000333194.4_Intron|PDE8B_ENST00000342343.4_Missense_Mutation_p.L459V|PDE8B_ENST00000346042.3_Missense_Mutation_p.L382V	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	479					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GGACAGAGTTCTAGAGATTTT	0.463													12	38					0	0	0	0	G	76704787	C	G	76704787	3	3	111	1	0	0	0	0	1	0	0	0	11725	912	32	2	1489	2	PDE8B	5	76704787	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	5210415	76704787	104210473	41	21145											
PCDHB4	56131	broad.mit.edu	37	chr5	140503125	140503125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacggccacctgttcgccctCaggtcgctggactacgaggc	7	7	12	15	4	1	0	1	0	0	0	3	2	1	1	3	4	2	2	3	4	2	2			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:140503125C>T	ENST00000194152.1	+	1	1545	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		515	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGCCCTCAGGTCGCTGG	0.697													52	121					0	0	0	0	T	140503125	C	T	140503125	2	4	111	1	0	0	0	0	0	0	0	1	11615	813	29	2		2	PCDHB4	5	140503125	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08	63798338	140503125	40412135	42	21146											
PCDHGA2	56113	broad.mit.edu	37	chr5	140718650	140718650	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcgctattctgtgcgggaaGagatcgacagaggctccttc	8	11	12	10	3	1	2	0	0	1	2	5	5	2	3	1	2	1	2	1	2	2	4			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:140718650G>C	ENST00000394576.2	+	1	112	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCGGGAAGAGATCGACAG	0.597											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	57					0	0	0	0	C	140718650	G	C	140718650	3	2	111	1	0	0	0	0	1	0	0	0	11625	943	33	2	114	2	PCDHGA2	5	140718650	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	215525	140718650	40196610	43	21147											
TCERG1	10915	broad.mit.edu	37	chr5	145851118	145851118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaagccagttgctactgCtcctattcctggtactccat	8	12	8	13	0	0	0	0	0	0	0	3	0	3	0	4	2	5	5	4	2	4	5			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:145851118C>T	ENST00000296702.5	+	9	1618	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V	TCERG1_ENST00000394421.2_Missense_Mutation_p.A506V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	527					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCTACTGCTCCTATTCCT	0.423													16	38					0	0	0	0	T	145851118	C	T	145851118	3	4	111	1	0	0	0	0	1	0	0	0	15779	797	28	4	1614	4	TCERG1	5	145851118	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	5132468	145851118	35064142	44	21148											
PDGFRB	5159	broad.mit.edu	37	chr5	149514571	149514571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcattagggaggaagcccaCggtgggatctgccaggagtg	10	7	16	8	1	2	0	1	0	1	0	2	4	2	4	2	5	2	0	2	5	2	1			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:149514571C>T	ENST00000261799.4	-	4	842	c.373G>A	c.(373-375)Gtg>Atg	p.V125M		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	125					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGAAGCCCACGGTGGGATCT	0.522			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								41	33					0	0	0	0	T	149514571	C	T	149514571	3	4	111	1	0	0	0	0	1	0	0	0	11733	536	19	1	3027	1	PDGFRB	5	149514571	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	3663453	149514571	31400689	45	21149											
HIST1H2AD	3013	broad.mit.edu	37	chr6	26199448	26199448	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttagctcgggcctttccGccttgcttgccgcgtccgga	2	11	12	16	5	0	0	0	0	0	0	3	1	2	1	6	2	3	2	6	2	1	4			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr6:26199448G>A	ENST00000341023.1	-	1	23	c.24C>T	c.(22-24)ggC>ggT	p.G8G	HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	8					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				GGGCCTTTCCGCCTTGCTTGC	0.507													12	29					0	0	0	0	A	26199448	G	A	26199448	2	1	111	1	0	0	0	0	0	0	0	1	7181	1074	38	1		1	HIST1H2AD	6	26199448	Silent	SNP	G	TCGA-CN-6998-01A-23D-2012-08		26199448	144915619	46	21150											
HIST1H2AL	8332	broad.mit.edu	37	chr6	27833460	27833460	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcgctcagggtggtgtcctgCccaacatccaggctgtgcta	6	10	12	13	1	1	0	1	0	0	0	4	0	3	0	3	3	3	3	3	3	2	1			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr6:27833460C>A	ENST00000357320.2	+	1	427	c.328C>A	c.(328-330)Ccc>Acc	p.P110T		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	110					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						TGGTGTCCTGCCCAACATCCA	0.552													64	98					1.53122e-18	1.84244e-18	1	0	A	27833460	C	A	27833460	3	1	111	1	0	0	0	0	1	0	0	0	7188	739	26	4	330	4	HIST1H2AL	6	27833460	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	1634012	27833460	143281607	47	21151											
PHF3	23469	broad.mit.edu	37	chr6	64422967	64422967	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattttcccccacaaagcaTgtttggatttccaccacatt	11	14	4	12	0	0	0	0	0	0	0	2	1	2	1	4	1	1	2	4	1	2	6			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr6:64422967T>C	ENST00000262043.3	+	16	5823	c.5483T>C	c.(5482-5484)aTg>aCg	p.M1828T	PHF3_ENST00000393387.1_Missense_Mutation_p.M1828T			Q92576	PHF3_HUMAN	PHD finger protein 3	1828	Pro-rich.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCACAAAGCATGTTTGGATTT	0.512													91	128					0	0	0	0	C	64422967	T	C	64422967	3	2	111	1	0	0	0	0	1	0	0	0	11908	1464	51	5	5541	5	PHF3	6	64422967	Missense_Mutation	SNP	T	TCGA-CN-6998-01A-23D-2012-08	36589507	64422967	106692100	48	21152											
SOBP	55084	broad.mit.edu	37	chr6	107956339	107956339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcgcctgaggaaccggCggtgagcgagctagagtcgg	7	6	18	10	5	0	3	0	2	0	1	2	5	0	4	2	4	3	2	2	4	2	1			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr6:107956339C>T	ENST00000317357.5	+	6	2950	c.2291C>T	c.(2290-2292)gCg>gTg	p.A764V	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	764							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GAGGAACCGGCGGTGAGCGAG	0.711													7	27					0	0	0	0	T	107956339	C	T	107956339	3	4	111	1	0	0	0	0	1	0	0	0	15000	768	27	1	2313	1	SOBP	6	107956339	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	43533372	107956339	63158728	49	21153											
SLC2A12	154091	broad.mit.edu	37	chr6	134350301	134350301	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatcaccagaaaccgaGggcttggaggaagaaaatac	15	7	10	9	1	2	2	2	0	0	2	2	5	2	4	2	3	2	1	2	3	5	3			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr6:134350301G>C	ENST00000275230.5	-	2	817	c.662C>G	c.(661-663)cCt>cGt	p.P221R		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	221						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CAGAAACCGAGGGCTTGGAGG	0.448													30	60					0	0	0	0	C	134350301	G	C	134350301	3	2	111	1	0	0	0	0	1	0	0	0	14629	1000	35	4	1207	4	SLC2A12	6	134350301	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	26393962	134350301	36764766	50	21154											
CPVL	54504	broad.mit.edu	37	chr7	29105714	29105714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggatcacttgttaagtcGccatctagtagtttatccag	11	13	9	8	1	2	0	1	0	1	0	4	2	3	1	2	1	0	3	2	1	5	6			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr7:29105714G>A	ENST00000409850.1	-	14	1534	c.888C>T	c.(886-888)ggC>ggT	p.G296G	CPVL_ENST00000396276.3_Silent_p.G296G|CPVL_ENST00000265394.5_Silent_p.G296G			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	296					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TTGTTAAGTCGCCATCTAGTA	0.348													11	42					0	0	0	0	A	29105714	G	A	29105714	2	1	111	1	0	0	0	0	0	0	0	1	3865	1074	38	1		1	CPVL	7	29105714	Silent	SNP	G	TCGA-CN-6998-01A-23D-2012-08		29105714	130032949	51	21155											
TSC22D4	81628	broad.mit.edu	37	chr7	100075277	100075277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggccgaggctggccagctCcaacctggaatccaaagatc	11	5	11	14	1	0	1	0	0	0	1	3	3	2	2	5	4	2	2	5	4	3	0			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr7:100075277C>T	ENST00000300181.2	-	2	1139	c.385G>A	c.(385-387)Gag>Aag	p.E129K	TSC22D4_ENST00000393991.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	129					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGCCAGCTCCAACCTGGAA	0.692													7	6					0	0	0	0	T	100075277	C	T	100075277	3	4	111	1	0	0	0	0	1	0	0	0	16705	864	30	2	818	2	TSC22D4	7	100075277	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	70969563	100075277	59063386	52	21156											
SSPO	23145	broad.mit.edu	37	chr7	149486777	149486777	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgacggagtctgggactgCccagatggagccgatgaggg	8	7	18	8	2	1	3	0	2	1	1	1	7	1	6	2	4	2	0	2	4	0	0			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr7:149486777C>T	ENST00000378016.2	+	0	4551							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTGGGACTGCCCAGATGGAG	0.667													9	16					0	0	0	0	T	149486777	C	T	149486777	1	4	111	0	1	0	0	0	0	0	0	0	15279	747	26	4		4	SSPO	7	149486777	RNA	SNP	C	TCGA-CN-6998-01A-23D-2012-08	49411500	149486777	9651886	53	21157											
ZFHX4	79776	broad.mit.edu	37	chr8	77618583	77618583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaccagcctcagtggctgcGgaacaccctctccgtccaaa	10	6	8	17	2	2	0	1	0	1	0	4	1	3	1	5	2	3	1	5	2	2	0			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr8:77618583G>A	ENST00000521891.2	+	2	2708	c.2260G>A	c.(2260-2262)Gga>Aga	p.G754R	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G754R|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G754R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G754R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	754						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTGGCTGCGGAACACCCTC	0.527										HNSCC(33;0.089)			25	19					0	0	0	0	A	77618583	G	A	77618583	3	1	111	1	0	0	0	0	1	0	0	0	17730	1117	39	1	2262	1	ZFHX4	8	77618583	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08		77618583	68745439	54	21158											
CNGB3	54714	broad.mit.edu	37	chr8	87638274	87638274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcgagggctaactggacCgtagttggtagggtcttaag	9	10	16	6	2	1	0	0	0	1	0	1	2	1	1	1	5	1	4	1	5	4	5			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr8:87638274C>T	ENST00000320005.5	-	13	1562	c.1515G>A	c.(1513-1515)acG>acA	p.T505T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	505					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTAACTGGACCGTAGTTGGTA	0.383													20	42					0	0	0	0	T	87638274	C	T	87638274	2	4	111	1	0	0	0	0	0	0	0	1	3631	639	23	1		1	CNGB3	8	87638274	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08	10019691	87638274	58725748	55	21159											
ZNF251	90987	broad.mit.edu	37	chr8	145948537	145948537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagatctttccctgcccaCggtagcttctgttaaaactc	10	12	6	13	1	2	1	0	0	2	1	4	1	3	1	2	1	3	3	2	1	4	4			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr8:145948537C>T	ENST00000292562.7	-	5	783	c.508G>A	c.(508-510)Gtg>Atg	p.V170M	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCCCTGCCCACGGTAGCTTCT	0.438													106	133					0	0	0	0	T	145948537	C	T	145948537	3	4	111	1	0	0	0	0	1	0	0	0	17891	536	19	1	1511	1	ZNF251	8	145948537	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	58310263	145948537	415485	56	21160											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			17	10					0	0	0	0	A	21971120	G	A	21971120	4	1	111	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08		21971120	119242311	57	21161											
TRPM6	140803	broad.mit.edu	37	chr9	77386695	77386695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggaagtatttttccaCgcactgctcctcaaaatcat	11	13	5	12	1	3	0	3	0	0	0	5	1	5	1	2	1	1	3	2	1	4	3			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr9:77386695C>T	ENST00000451710.3	-	25	3697	c.3460G>A	c.(3460-3462)Gtg>Atg	p.V1154M	TRPM6_ENST00000361255.3_Missense_Mutation_p.V1149M|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.V1149M|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1154M|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.V1154M			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1154					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						TATTTTTCCACGCACTGCTCC	0.353													8	45					0	0	0	0	T	77386695	C	T	77386695	3	4	111	1	0	0	0	0	1	0	0	0	16685	536	19	1	2668	1	TRPM6	9	77386695	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	55415575	77386695	63826736	58	21162											
NEUROG3	50674	broad.mit.edu	37	chr10	71332754	71332754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggaaggaccgctccgtctCacgggtcacttggacagtgg	7	7	16	11	3	2	0	2	0	1	0	4	3	3	3	2	6	0	1	2	6	1	1	rs146974265		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr10:71332754C>T	ENST00000242462.4	-	2	75	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	16					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CGCTCCGTCTCACGGGTCACT	0.677													17	44					0	0	0	0	T	71332754	C	T	71332754	3	4	111	1	0	0	0	0	1	0	0	0	10424	835	29	2	602	2	NEUROG3	10	71332754	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08		71332754	64201993	59	21163											
SORCS3	22986	broad.mit.edu	37	chr10	106982909	106982909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatctccgagttccatttGttgccataagaaataaggag	12	13	8	8	1	2	1	1	0	1	1	4	3	3	2	3	1	1	2	3	1	3	6			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr10:106982909G>A	ENST00000369701.3	+	20	2997	c.2770G>A	c.(2770-2772)Gtt>Att	p.V924I	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	924						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGTTCCATTTGTTGCCATAAG	0.453													25	73					0	0	0	0	A	106982909	G	A	106982909	3	1	111	1	0	0	0	0	1	0	0	0	15020	1377	48	4	2848	4	SORCS3	10	106982909	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	35650155	106982909	28551838	60	21164											
SBF2	81846	broad.mit.edu	37	chr11	10022466	10022466	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatgaatacttacaagttCatggacatcagttttaaaga	17	12	7	5	0	2	3	2	1	0	2	2	4	2	4	0	1	2	2	0	1	7	5			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr11:10022466C>G	ENST00000256190.8	-	8	993	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	286	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTTACAAGTTCATGGACATCA	0.363													3	6					0	0	0	0	G	10022466	C	G	10022466	3	3	111	1	0	0	0	0	1	0	0	0	13945	835	29	2	4825	2	SBF2	11	10022466	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08		10022466	124984050	61	21165											
ABTB2	25841	broad.mit.edu	37	chr11	34194744	34194744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccaggcagcagcagcCgggctgcctgccggatgtcg	7	4	15	15	3	0	1	0	0	0	1	1	2	0	2	5	3	5	4	5	3	0	0			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr11:34194744C>T	ENST00000435224.2	-	4	1779	c.1355G>A	c.(1354-1356)cGg>cAg	p.R452Q	ABTB2_ENST00000298992.2_Missense_Mutation_p.R266Q|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	266							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CAGCAGCAGCCGGGCTGCCTG	0.692													13	36					0	0	0	0	T	34194744	C	T	34194744	3	4	111	1	0	0	0	0	1	0	0	0	103	652	23	1	1778	1	ABTB2	11	34194744	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	24172278	34194744	100811772	62	21166											
TP53I11	9537	broad.mit.edu	37	chr11	44958408	44958408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctggtcacctgggctcCatcaaagaccgcatcataga	10	9	9	13	1	3	2	3	0	0	2	4	2	4	2	3	2	1	3	3	2	2	2			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr11:44958408C>T	ENST00000533940.1	-	8	884	c.280G>A	c.(280-282)Gga>Aga	p.G94R	TP53I11_ENST00000308212.5_Missense_Mutation_p.G94R|TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000395648.3_Missense_Mutation_p.G94R|TP53I11_ENST00000525680.1_Missense_Mutation_p.G94R|TP53I11_ENST00000531928.2_Missense_Mutation_p.G94R	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	94					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						ACCTGGGCTCCATCAAAGACC	0.687											OREG0020923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	26					0	0	0	0	T	44958408	C	T	44958408	3	4	111	1	0	0	0	0	1	0	0	0	16480	603	21	4	301	4	TP53I11	11	44958408	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	10763664	44958408	90048108	63	21167											
GAB2	9846	broad.mit.edu	37	chr11	77937653	77937653	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgcctgacttggcttgggGgggcggggtgggggagctat	3	10	21	7	1	1	1	0	1	1	0	1	2	1	2	1	8	2	2	1	8	1	3			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr11:77937653G>A	ENST00000361507.4	-	4	1150	c.1065C>T	c.(1063-1065)ccC>ccT	p.P355P	GAB2_ENST00000340149.2_Silent_p.P317P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	355					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTGGCTTGGGGGGGCGGGGTG	0.582													24	53					0	0	0	0	A	77937653	G	A	77937653	2	1	111	1	0	0	0	0	0	0	0	1	6197	1219	43	4		4	GAB2	11	77937653	Silent	SNP	G	TCGA-CN-6998-01A-23D-2012-08	32979245	77937653	57068863	64	21168											
EXPH5	23086	broad.mit.edu	37	chr11	108385369	108385369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ataaattgtgcttgtcctagGagaaaaggttttaaaacctt	14	14	8	5	0	0	1	0	0	0	1	1	2	1	1	2	2	2	2	2	2	7	7			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr11:108385369G>C	ENST00000265843.4	-	6	975	c.865C>G	c.(865-867)Cct>Gct	p.P289A	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.P101A|EXPH5_ENST00000525344.1_Missense_Mutation_p.P282A|EXPH5_ENST00000428840.1_Missense_Mutation_p.P213A	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	289					intracellular protein transport		Rab GTPase binding	p.P289S(2)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTGTCCTAGGAGAAAAGGTT	0.378													12	30					0	0	0	0	C	108385369	G	C	108385369	3	2	111	1	0	0	0	0	1	0	0	0	5360	1174	41	2	5108	2	EXPH5	11	108385369	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	30447716	108385369	26621147	65	21169											
CLEC2D	29121	broad.mit.edu	37	chr12	9840539	9840539	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagccatcagtatgtcttCaagctgcatgcccagaaagc	13	8	9	11	0	3	2	2	0	1	2	3	2	3	2	2	0	5	3	2	0	4	2			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr12:9840539C>T	ENST00000261340.7	+	3	236	c.214C>T	c.(214-216)Caa>Taa	p.Q72*	CLEC2D_ENST00000545918.1_Nonsense_Mutation_p.Q35*|CLEC2D_ENST00000543300.1_Nonsense_Mutation_p.Q72*|CLEC2D_ENST00000261339.6_Nonsense_Mutation_p.Q35*|CLEC2D_ENST00000290855.6_Nonsense_Mutation_p.Q72*	NM_001004419.4	NP_001004419.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	72					cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						AGTATGTCTTCAAGCTGCATG	0.323													11	38					0	0	0	0	T	9840539	C	T	9840539	4	4	111	1	0	0	0	0	0	1	0	0	3538	827	29	2	224	2	CLEC2D	12	9840539	Nonsense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08		9840539	124011356	66	21170											
DENND5B	160518	broad.mit.edu	37	chr12	31586050	31586050	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaataagcctagttcatggCgcttgctgtgaggcacccca	9	9	12	11	1	1	1	1	1	0	0	1	2	1	2	3	3	2	4	3	3	3	4			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr12:31586050C>T	ENST00000354285.4	-	9	2390	c.2211G>A	c.(2209-2211)gcG>gcA	p.A737A	DENND5B_ENST00000536562.1_Intron|DENND5B_ENST00000389082.5_Intron|DENND5B_ENST00000306833.6_Intron			Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	0						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TAGTTCATGGCGCTTGCTGTG	0.428													32	65					0	0	0	0	T	31586050	C	T	31586050	2	4	111	1	0	0	0	0	0	0	0	1	4474	783	27	1		1	DENND5B	12	31586050	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08	21745511	31586050	102265845	67	21171											
ANO4	121601	broad.mit.edu	37	chr12	101491682	101491682	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatgggtattataatggtGctaaagcagacctggaataa	16	10	10	5	0	0	1	0	0	0	1	0	2	0	2	1	3	2	3	1	3	8	5			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr12:101491682G>T	ENST00000392979.3	+	20	2221	c.1860G>T	c.(1858-1860)gtG>gtT	p.V620V	ANO4_ENST00000550015.1_Silent_p.V175V|ANO4_ENST00000392977.3_Silent_p.V655V|ANO4_ENST00000299222.9_Silent_p.V175V	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	655						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTATAATGgtgctaaagcaga	0.413										HNSCC(74;0.22)			25	60					3.1745e-13	3.7586e-13	1	0	T	101491682	G	T	101491682	2	4	111	1	0	0	0	0	0	0	0	1	698	1306	46	4		4	ANO4	12	101491682	Silent	SNP	G	TCGA-CN-6998-01A-23D-2012-08	69905632	101491682	32360213	68	21172											
CIT	11113	broad.mit.edu	37	chr12	120172072	120172072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccaggcctcccactgccGctctttttctagcagctcat	5	12	6	18	1	3	0	1	0	2	0	5	0	5	0	5	1	3	3	5	1	1	3			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr12:120172072G>A	ENST00000392521.2	-	26	3302	c.3247C>T	c.(3247-3249)Cgg>Tgg	p.R1083W	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R1041W	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1041					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCCCACTGCCGCTCTTTTTCT	0.547													34	42					0	0	0	0	A	120172072	G	A	120172072	3	1	111	1	0	0	0	0	1	0	0	0	3468	1086	38	1	3054	1	CIT	12	120172072	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	18680390	120172072	13679823	69	21173											
MPP5	64398	broad.mit.edu	37	chr14	67779302	67779302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacccttatgttccatgtcGagagttaggtctgtcttttc	6	17	9	9	1	2	2	0	1	2	1	5	3	3	2	2	1	0	2	2	1	2	5	rs150659640		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr14:67779302G>A	ENST00000261681.4	+	9	1761	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	MPP5_ENST00000555925.1_Missense_Mutation_p.R333Q|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	367	SH3.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		GTTCCATGTCGAGAGTTAGGT	0.393													58	18					0	0	0	0	A	67779302	G	A	67779302	3	1	111	1	0	0	0	0	1	0	0	0	9807	1058	37	1	1126	1	MPP5	14	67779302	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08		67779302	39570238	70	21174											
PACS2	23241	broad.mit.edu	37	chr14	105849787	105849787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccatcctgcggctctttgtgGagcagctgtcccacaagaca	8	9	10	14	1	1	1	0	0	1	1	3	2	3	2	3	2	3	3	3	2	1	1			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr14:105849787G>A	ENST00000447393.1	+	16	1892	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	PACS2_ENST00000551743.1_Missense_Mutation_p.E83K|PACS2_ENST00000430725.2_Missense_Mutation_p.E494K|PACS2_ENST00000547217.1_Missense_Mutation_p.E539K|PACS2_ENST00000458164.2_Missense_Mutation_p.E573K|PACS2_ENST00000325438.8_Missense_Mutation_p.E569K	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	569					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCTCTTTGTGGAGCAGCTGTC	0.642													47	16					0	0	0	0	A	105849787	G	A	105849787	3	1	111	1	0	0	0	0	1	0	0	0	11444	1175	41	2	1779	2	PACS2	14	105849787	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	38070485	105849787	1499753	71	21175											
GABRA5	2558	broad.mit.edu	37	chr15	27188544	27188544	+	Frame_Shift_Del	DEL	A	A	-																															gaggctgggcctgggatggcAaaaaagccttggaagcagcc																										TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr15:27188544delA	ENST00000335625.5	+	10	1948	c.1060delA	c.(1060-1062)aafs	p.K355fs	GABRA5_ENST00000355395.5_Frame_Shift_Del_p.K355fs|GABRA5_ENST00000400081.3_Frame_Shift_Del_p.K355fs	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	355					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGGGATGGCAAAAAAGCCTT	0.498													2	4	---	---	---	---					-	27188544	A	-	27188544	7	5	111	1	0	1	0	1	0	0	0	0	6212	131	5	0	1090	0	GABRA5	15	27188544	Frame_Shift_Del	DEL	A	TCGA-CN-6998-01A-23D-2012-08		27188544	75342848	72	21176											
SALL1	6299	broad.mit.edu	37	chr16	51174768	51174768	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcactcccaaagaccttCgcgcagaacctgcacttgtg	9	9	8	15	2	1	2	1	0	0	2	3	2	2	2	3	0	2	2	3	0	2	2			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr16:51174768C>T	ENST00000440970.1	-	2	1505	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.A455A|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	455					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAAAGACCTTCGCGCAGAACC	0.512													47	59					0	0	0	0	T	51174768	C	T	51174768	2	4	111	1	0	0	0	0	0	0	0	1	13895	871	31	1		1	SALL1	16	51174768	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08		51174768	39179985	73	21177											
ELMO3	79767	broad.mit.edu	37	chr16	67235652	67235652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactgaccccaggagcagcGggagcagctgcaggtcctac	10	4	13	14	1	0	1	0	1	0	0	1	3	1	3	3	3	6	4	3	3	1	1			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr16:67235652G>A	ENST00000393997.2	+	11	1142	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	ELMO3_ENST00000360833.1_Missense_Mutation_p.R345Q|ELMO3_ENST00000477898.1_Missense_Mutation_p.R196Q	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	309	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CAGGAGCAGCGGGAGCAGCTG	0.637													17	37					0	0	0	0	A	67235652	G	A	67235652	3	1	111	1	0	0	0	0	1	0	0	0	5105	1116	39	1	1127	1	ELMO3	16	67235652	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	16060884	67235652	23119101	74	21178											
PLEKHG4	25894	broad.mit.edu	37	chr16	67315718	67315718	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgccttactgccaccAggcctggctggatttccgaa	7	9	11	14	1	0	0	0	0	0	0	1	2	1	1	6	4	3	1	6	4	2	2			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr16:67315718A>G	ENST00000360461.5	+	6	3518	c.983A>G	c.(982-984)cAg>cGg	p.Q328R	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.Q328R|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.Q247R|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.Q328R	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	328					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TACTGCCACCAGGCCTGGCTG	0.617													4	104					0	0	0	0	G	67315718	A	G	67315718	3	3	111	1	0	0	0	0	1	0	0	0	12143	188	7	5	1005	5	PLEKHG4	16	67315718	Missense_Mutation	SNP	A	TCGA-CN-6998-01A-23D-2012-08	80066	67315718	23039035	75	21179											
OR1A2	26189	broad.mit.edu	37	chr17	3101020	3101020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccaacctctccttggttGacatcatcttctcatccgta	7	15	5	14	1	4	1	2	1	3	0	7	1	5	1	4	1	2	2	4	1	2	5			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr17:3101020G>A	ENST00000381951.1	+	1	208	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CTCCTTGGTTGACATCATCTT	0.483													85	112					0	0	0	0	A	3101020	G	A	3101020	3	1	111	1	0	0	0	0	1	0	0	0	11021	1290	45	2	210	2	OR1A2	17	3101020	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08		3101020	78094190	76	21180											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	3	14	11	13	1	0	0	0	0	0	0	3	0	2	0	3	2	4	5	3	2	2	4	rs121913344		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			53	31					0	0	0	0	A	7577022	G	A	7577022	4	1	111	1	0	0	0	0	0	1	0	0	16476	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	4476002	7577022	73618188	77	21181											
MYO15A	51168	broad.mit.edu	37	chr17	18022714	18022714	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcatctacgcgtcaggCgagcccctgggcttcctgcc	5	7	12	17	4	2	0	1	0	1	0	3	1	3	0	4	2	4	3	4	2	1	2			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr17:18022714C>T	ENST00000205890.5	+	2	938	c.600C>T	c.(598-600)ggC>ggT	p.G200G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	200	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACGCGTCAGGCGAGCCCCTGG	0.706													12	41					0	0	0	0	T	18022714	C	T	18022714	2	4	111	1	0	0	0	0	0	0	0	1	10133	755	27	1		1	MYO15A	17	18022714	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08	10445692	18022714	63172496	78	21182											
VPS25	84313	broad.mit.edu	37	chr17	40925516	40925516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgatgagtttcgagtggcCgtggcagtatcgcttcccac	6	10	14	11	4	0	1	0	1	0	0	3	3	1	1	2	3	0	4	2	3	1	3	rs141909224		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr17:40925516C>T	ENST00000253794.2	+	1	63	c.23C>T	c.(22-24)cCg>cTg	p.P8L		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	8					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TTCGAGTGGCCGTGGCAGTAT	0.632													26	123					0	0	0	0	T	40925516	C	T	40925516	3	4	111	1	0	0	0	0	1	0	0	0	17292	652	23	1	25	1	VPS25	17	40925516	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	22902802	40925516	40269694	79	21183											
MPO	4353	broad.mit.edu	37	chr17	56352927	56352927	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accatggcccccacgatcttCcgggcttcctggtagagcct	6	9	10	16	2	1	1	0	0	1	1	3	2	3	1	6	3	1	2	6	3	1	3			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr17:56352927C>T	ENST00000340482.3	-	7	1613	c.1437G>A	c.(1435-1437)cgG>cgA	p.R479R	MPO_ENST00000225275.3_Silent_p.R447R			P05164	PERM_HUMAN	myeloperoxidase	447					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCACGATCTTCCGGGCTTCCT	0.607													14	44					0	0	0	0	T	56352927	C	T	56352927	2	4	111	1	0	0	0	0	0	0	0	1	9802	842	30	2		2	MPO	17	56352927	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08	15427411	56352927	24842283	80	21184											
KIAA0195	9772	broad.mit.edu	37	chr17	73487507	73487507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggacctcaccgatggcCtatccacccgctccttctgc	7	9	8	17	2	2	1	1	1	1	0	4	3	4	2	6	2	1	1	6	2	1	2			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr17:73487507C>A	ENST00000314256.7	+	13	1751	c.1357C>A	c.(1357-1359)Cta>Ata	p.L453I	KIAA0195_ENST00000579208.1_Missense_Mutation_p.L104I|KIAA0195_ENST00000375248.5_Missense_Mutation_p.L463I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	453					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCGATGGCCTATCCACCCG	0.637													37	69					7.63091e-17	9.10786e-17	1	0	A	73487507	C	A	73487507	3	1	111	1	0	0	0	0	1	0	0	0	8211	680	24	4	1403	4	KIAA0195	17	73487507	Missense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08	17134580	73487507	7707703	81	21185											
SAFB	6294	broad.mit.edu	37	chr19	5641946	5641946	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagcttccggagcagcttCaggaacatgctgtaggtaac	12	8	12	9	1	1	1	1	0	0	1	2	3	2	3	1	3	6	6	1	3	4	4			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr19:5641946C>T	ENST00000292123.5	+	4	642	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	SAFB_ENST00000454510.1_Intron|SAFB_ENST00000433404.1_Nonsense_Mutation_p.Q9*|SAFB_ENST00000592224.1_Nonsense_Mutation_p.Q179*|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000588852.1_Nonsense_Mutation_p.Q179*	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	179					chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGAGCAGCTTCAGGAACATGC	0.458													27	27					0	0	0	0	T	5641946	C	T	5641946	4	4	111	1	0	0	0	0	0	1	0	0	13891	827	29	2	549	2	SAFB	19	5641946	Nonsense_Mutation	SNP	C	TCGA-CN-6998-01A-23D-2012-08		5641946	53487037	82	21186											
AKT2	208	broad.mit.edu	37	chr19	40741920	40741920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgctcgtggtcctggttgTagaagggcaggcggccgcac	5	7	18	11	4	0	1	0	0	0	1	2	1	1	1	2	6	0	5	2	6	2	2			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr19:40741920T>C	ENST00000392038.2	-	11	1350	c.1052A>G	c.(1051-1053)tAc>tGc	p.Y351C	AKT2_ENST00000311278.6_Missense_Mutation_p.Y308C|AKT2_ENST00000579047.1_Missense_Mutation_p.Y289C|AKT2_ENST00000424901.1_Missense_Mutation_p.Y351C	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	351	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GTCCTGGTTGTAGAAGGGCAG	0.637			A		"ovarian, pancreatic "								12	63					0	0	0	0	C	40741920	T	C	40741920	3	2	111	1	0	0	0	0	1	0	0	0	480	1638	57	5	409	5	AKT2	19	40741920	Missense_Mutation	SNP	T	TCGA-CN-6998-01A-23D-2012-08	35099974	40741920	18387063	83	21187											
IRGC	56269	broad.mit.edu	37	chr19	44223073	44223073	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccggctctccaggctgcccGgctgacaagtacctaaagca	9	6	11	15	2	1	1	0	1	1	0	2	1	1	1	4	3	3	5	4	3	4	2			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr19:44223073G>A	ENST00000244314.5	+	2	562	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	121						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CAGGCTGCCCGGCTGACAAGT	0.657													7	32					0	0	0	0	A	44223073	G	A	44223073	2	1	111	1	0	0	0	0	0	0	0	1	7891	1103	39	1		1	IRGC	19	44223073	Silent	SNP	G	TCGA-CN-6998-01A-23D-2012-08	3481153	44223073	14905910	84	21188											
OPA3	80207	broad.mit.edu	37	chr19	46056884	46056884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcgccctgtggcggcGccgcctgcacctgcgcctgc	2	5	15	19	5	0	0	0	0	0	0	0	0	0	0	6	3	3	1	6	3	0	0			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr19:46056884G>A	ENST00000263275.4	-	2	482	c.428C>T	c.(427-429)gCg>gTg	p.A143V	OPA3_ENST00000323060.3_Intron|OPA3_ENST00000544371.1_Missense_Mutation_p.A90V	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	143					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CTGTGGCGGCGCCGCCTGCAC	0.726													7	41					0	0	0	0	A	46056884	G	A	46056884	3	1	111	1	0	0	0	0	1	0	0	0	10943	1087	38	1	520	1	OPA3	19	46056884	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	1833811	46056884	13072099	85	21189											
SIGLEC10	89790	broad.mit.edu	37	chr19	51914354	51914354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaaagcctaagagaccctCattggaacttgacttctgca	12	10	7	12	0	2	2	1	1	1	1	2	4	2	3	3	1	3	1	3	1	4	5			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr19:51914354C>T	ENST00000353836.5	-	10	2029	c.1808G>A	c.(1807-1809)tGa>tAa	p.*603*	SIGLEC10_ENST00000442846.3_Silent_p.*455*|SIGLEC10_ENST00000441969.3_Silent_p.*545*|SIGLEC10_ENST00000525998.1_Silent_p.*513*|SIGLEC10_ENST00000339313.5_Silent_p.*698*|SIGLEC10_ENST00000439889.2_Silent_p.*640*|SIGLEC10_ENST00000436984.2_Silent_p.*555*|SIGLEC10_ENST00000432469.2_Silent_p.*520*|SIGLEC10_ENST00000356298.5_Silent_p.*698*	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	0					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AAGAGACCCTCATTGGAACTT	0.542													61	38					0	0	0	0	T	51914354	C	T	51914354	2	4	111	1	0	0	0	0	0	0	0	1	14394	837	29	2		2	SIGLEC10	19	51914354	Silent	SNP	C	TCGA-CN-6998-01A-23D-2012-08	5857470	51914354	7214629	86	21190											
PLCB4	5332	broad.mit.edu	37	chr20	9360788	9360788	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattgagatgtatgaacctGatgaagatttgaagaaaaaa	18	11	9	3	0	1	7	1	5	0	3	1	8	1	7	1	0	1	1	1	0	7	3			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr20:9360788G>C	ENST00000378501.2	+	10	847	c.832G>C	c.(832-834)Gat>Cat	p.D278H	PLCB4_ENST00000414679.2_Missense_Mutation_p.D278H|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D278H|PLCB4_ENST00000278655.4_Missense_Mutation_p.D278H|PLCB4_ENST00000378473.3_Missense_Mutation_p.D278H|PLCB4_ENST00000334005.3_Missense_Mutation_p.D278H	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	278					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GTATGAACCTGATGAAGATTT	0.294													8	24					0	0	0	0	C	9360788	G	C	9360788	3	2	111	1	0	0	0	0	1	0	0	0	12102	1290	45	2	870	2	PLCB4	20	9360788	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08		9360788	53664732	87	21191											
KIF16B	55614	broad.mit.edu	37	chr20	16360188	16360188	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaagaaacgcagttgagccTtttctaactcctcgccatct	10	11	7	13	3	2	2	0	1	2	1	4	3	3	2	3	0	3	2	3	0	3	4			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr20:16360188T>C	ENST00000354981.2	-	19	2616	c.2459A>G	c.(2458-2460)aAg>aGg	p.K820R	KIF16B_ENST00000355755.3_Missense_Mutation_p.K820R|KIF16B_ENST00000408042.1_Missense_Mutation_p.K820R|KIF16B_ENST00000378003.2_Missense_Mutation_p.K46R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	820	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CAGTTGAGCCTTTTCTAACTC	0.517													3	87					0	0	0	0	C	16360188	T	C	16360188	3	2	111	1	0	0	0	0	1	0	0	0	8329	1609	56	5	1526	5	KIF16B	20	16360188	Missense_Mutation	SNP	T	TCGA-CN-6998-01A-23D-2012-08	6999400	16360188	46665332	88	21192											
BCL2L1	598	broad.mit.edu	37	chr20	30309591	30309591	+	Frame_Shift_Del	DEL	A	A	-																															acagtgccccgccgaaggagAaaaaggccacaatgcgaccc																										TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr20:30309591delA	ENST00000307677.4	-	2	841	c.431delT	c.(430-432)tcfs	p.F144fs	BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	144					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GCCGAAGGAGAAAAAGGCCAC	0.542													7	365	---	---	---	---					-	30309591	A	-	30309591	7	5	111	1	0	1	0	1	0	0	0	0	1371	246	9	0	278	0	BCL2L1	20	30309591	Frame_Shift_Del	DEL	A	TCGA-CN-6998-01A-23D-2012-08	13949403	30309591	32715929	89	21193											
TAF4	6874	broad.mit.edu	37	chr20	60584189	60584189	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagccagttttattaacgtAgataggaaatttttacattt	14	16	7	4	1	0	1	0	0	0	1	0	3	0	2	1	1	3	2	1	1	7	9			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr20:60584189A>T	ENST00000252996.3	-	5	1802	c.1803T>A	c.(1801-1803)tcT>tcA	p.S601S		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	601	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTATTAACGTAGATAGGAAAT	0.353													19	49					0	0	0	0	T	60584189	A	T	60584189	2	4	111	1	0	0	0	0	0	0	0	1	15617	407	15	5		5	TAF4	20	60584189	Silent	SNP	A	TCGA-CN-6998-01A-23D-2012-08	30274598	60584189	2441331	90	21194											
GLRA2	2742	broad.mit.edu	37	chrX	14748491	14748491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagaagtttgtggaccggGcaaaaaggattgacacgata	16	7	13	5	2	0	3	0	1	0	2	0	6	0	5	1	3	0	2	1	3	5	3			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chrX:14748491G>A	ENST00000218075.4	+	9	1773	c.1243G>A	c.(1243-1245)Gca>Aca	p.A415T	GLRA2_ENST00000355020.4_Missense_Mutation_p.A415T|GLRA2_ENST00000443437.2_Missense_Mutation_p.A326T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	415					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TGTGGACCGGGCAAAAAGGAT	0.473													4	78					0	0	0	0	A	14748491	G	A	14748491	3	1	111	1	0	0	0	0	1	0	0	0	6506	1203	42	4	1349	4	GLRA2	23	14748491	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08		14748491	140522069	91	21195											
DMD	1756	broad.mit.edu	37	chrX	32591889	32591889	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagtaagacgttgccatttGagaaggatgtcttgtaaaag	13	12	11	5	1	2	2	1	1	1	2	2	4	2	3	1	1	1	3	1	1	4	5			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chrX:32591889G>C	ENST00000357033.4	-	14	1883	c.1677C>G	c.(1675-1677)ctC>ctG	p.L559L	DMD_ENST00000288447.4_Silent_p.L551L|DMD_ENST00000378677.2_Silent_p.L555L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	559					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTGCCATTTGAGAAGGATGT	0.423													7	6					0	0	0	0	C	32591889	G	C	32591889	2	2	111	1	0	0	0	0	0	0	0	1	4617	1277	45	2		2	DMD	23	32591889	Silent	SNP	G	TCGA-CN-6998-01A-23D-2012-08	17843398	32591889	122678671	92	21196											
MID2	11043	broad.mit.edu	37	chrX	107159287	107159287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccagacatcaattttaatGatgcctttgaaaactttgct	12	16	5	8	0	1	3	1	2	0	1	2	3	2	3	2	0	3	1	2	0	4	5			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chrX:107159287G>C	ENST00000262843.6	+	6	1677	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.D377H	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	377	COS.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CAATTTTAATGATGCCTTTGA	0.353													33	14					0	0	0	0	C	107159287	G	C	107159287	3	2	111	1	0	0	0	0	1	0	0	0	9647	1290	45	2	1151	2	MID2	23	107159287	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	74567398	107159287	48111273	93	21197											
USP26	83844	broad.mit.edu	37	chrX	132161099	132161099	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtgagctaaaaactcatGagcatcgttctgtgcattgc	12	11	9	9	1	2	2	1	2	1	0	3	2	2	2	0	0	5	4	0	0	3	3			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chrX:132161099G>C	ENST00000511190.1	-	6	1619	c.1150C>G	c.(1150-1152)Cat>Gat	p.H384D	USP26_ENST00000406273.1_Missense_Mutation_p.H384D|USP26_ENST00000370832.1_Missense_Mutation_p.H384D	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	384					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.H384Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAAAACTCATGAGCATCGTTC	0.358													24	14					0	0	0	0	C	132161099	G	C	132161099	3	2	111	1	0	0	0	0	1	0	0	0	17153	1290	45	2	1594	2	USP26	23	132161099	Missense_Mutation	SNP	G	TCGA-CN-6998-01A-23D-2012-08	25001812	132161099	23109461	94	21198											
NOC2L	26155	broad.mit.edu	37	chr1	887493	887493	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagaggcagtgcacatactgCcagttgtacacagactggta	13	8	11	9	0	0	2	0	0	0	2	0	2	0	2	1	2	4	5	1	2	4	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:887493C>G	ENST00000327044.6	-	11	1267	c.1218G>C	c.(1216-1218)tgG>tgC	p.W406C		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	406						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCACATACTGCCAGTTGTACA	0.607													18	28					0	0	0	0	G	887493	C	G	887493	3	3	112	1	0	0	0	0	1	0	0	0	10583	740	26	4	1067	4	NOC2L	1	887493	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08		887493	248363128	1	21199											
PLCH2	9651	broad.mit.edu	37	chr1	2428299	2428299	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtgtcgtccttcagcGagaccaaggcccaccagatt	9	7	12	13	2	1	2	1	0	0	2	3	3	2	2	4	3	1	1	4	3	1	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:2428299G>T	ENST00000449969.1	+	15	2046	c.1885G>T	c.(1885-1887)Gag>Tag	p.E629*	PLCH2_ENST00000419816.2_Nonsense_Mutation_p.E656*|PLCH2_ENST00000378486.3_Nonsense_Mutation_p.E656*|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Nonsense_Mutation_p.E656*			O75038	PLCH2_HUMAN	phospholipase C, eta 2	656	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GTCCTTCAGCGAGACCAAGGC	0.657													34	78					1.61788e-16	2.50323e-16	1	0	T	2428299	G	T	2428299	4	4	112	1	0	0	0	0	0	1	0	0	12110	1059	37	3	2024	3	PLCH2	1	2428299	Nonsense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1540806	2428299	246822322	2	21200											
MEGF6	1953	broad.mit.edu	37	chr1	3421856	3421856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcacaggccacgcccactgGgcaggtgcatgcctgccagc	7	5	13	16	1	1	0	1	0	0	0	1	0	1	0	4	3	4	2	4	3	0	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:3421856G>A	ENST00000356575.4	-	17	2330	c.2104C>T	c.(2104-2106)Cca>Tca	p.P702S	MEGF6_ENST00000294599.4_Missense_Mutation_p.P597S	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	702						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ACGCCCACTGGGCAGGTGCAT	0.692													13	33					0	0	0	0	A	3421856	G	A	3421856	3	1	112	1	0	0	0	0	1	0	0	0	9531	1232	43	4	2605	4	MEGF6	1	3421856	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	993557	3421856	245828765	3	21201											
SLC2A5	6518	broad.mit.edu	37	chr1	9101785	9101785	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtggctttggaacacaagGagggggccaagggtagtggt	9	8	19	5	0	0	0	0	0	0	0	0	2	0	2	1	8	1	2	1	8	4	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:9101785G>T	ENST00000377414.3	-	5	697	c.630C>A	c.(628-630)ctC>ctA	p.L210L	SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377424.4_Intron|SLC2A5_ENST00000536305.1_Intron	NM_001135585.1	NP_001129057.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	43					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGAACACAAGGAGGGGGCCAA	0.572													11	20					1.58986e-06	1.98733e-06	1	0	T	9101785	G	T	9101785	2	4	112	1	0	0	0	0	0	0	0	1	14636	1161	41	2		2	SLC2A5	1	9101785	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	5679929	9101785	240148836	4	21202											
PADI1	29943	broad.mit.edu	37	chr1	17570512	17570512	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttttgcaggttaacaTggtggtcttaggcaagtacc	8	15	10	8	0	2	0	0	0	2	0	3	0	2	0	1	4	3	4	1	4	4	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:17570512T>C	ENST00000375471.4	+	16	1858	c.1766T>C	c.(1765-1767)aTg>aCg	p.M589T	PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000537499.1_Missense_Mutation_p.M146T|PADI1_ENST00000413717.2_Missense_Mutation_p.M104T|PADI1_ENST00000536552.1_Missense_Mutation_p.M60T	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	589					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CAGGTTAACATGGTGGTCTTA	0.582													7	17					0	0	0	0	C	17570512	T	C	17570512	3	2	112	1	0	0	0	0	1	0	0	0	11448	1464	51	5	1828	5	PADI1	1	17570512	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	8468727	17570512	231680109	5	21203											
UBR4	23352	broad.mit.edu	37	chr1	19526188	19526188	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggattctccagacgcaggAgagaaaactcaattagaact	15	8	9	9	1	2	3	1	0	1	3	3	6	2	5	1	2	2	1	1	2	5	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:19526188A>C	ENST00000375267.2	-	3	338	c.335T>G	c.(334-336)cTc>cGc	p.L112R	UBR4_ENST00000375226.2_Missense_Mutation_p.L112R|UBR4_ENST00000375254.3_Missense_Mutation_p.L112R|UBR4_ENST00000375217.2_Missense_Mutation_p.L112R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	112					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGACGCAGGAGAGAAAACTC	0.468													13	22					0	0	0	0	C	19526188	A	C	19526188	3	2	112	1	0	0	0	0	1	0	0	0	17000	304	11	5	15632	5	UBR4	1	19526188	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	1955676	19526188	229724433	6	21204											
ECE1	1889	broad.mit.edu	37	chr1	21616667	21616667	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctgcaaggccaaatgcaGcacggactccctcagcgcct	10	6	9	16	2	2	0	1	0	1	0	3	1	3	1	3	2	4	3	3	2	2	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:21616667G>A	ENST00000264205.6	-	1	83	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	ECE1_ENST00000436918.2_Intron|ECE1_ENST00000374893.6_Intron|ECE1_ENST00000415912.2_Intron	NM_001113349.1	NP_001106820.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	12					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GCCAAATGCAGCACGGACTCC	0.721													5	7					0	0	0	0	A	21616667	G	A	21616667	2	1	112	1	0	0	0	0	0	0	0	1	4925	962	34	4		4	ECE1	1	21616667	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	2090479	21616667	227633954	7	21205											
CSMD2	114784	broad.mit.edu	37	chr1	34383835	34383835	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcattgttatggtactcCgaggggaagtgggggctgga	7	10	18	6	2	0	0	0	0	0	0	2	3	1	2	1	7	1	4	1	7	3	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:34383835C>A	ENST00000373381.4	-	5	956	c.780G>T	c.(778-780)tcG>tcT	p.S260S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	220	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TATGGTACTCCGAGGGGAAGT	0.582													7	26					1.26484e-09	1.73142e-09	1	0	A	34383835	C	A	34383835	2	1	112	1	0	0	0	0	0	0	0	1	3977	639	23	3		3	CSMD2	1	34383835	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	12767168	34383835	214866786	8	21206											
IPO13	9670	broad.mit.edu	37	chr1	44433317	44433317	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcacactgctgtgccGgggtctccatggcacagatt	7	10	13	11	1	2	1	1	0	1	1	3	2	2	2	2	4	2	3	2	4	0	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:44433317G>C	ENST00000372343.3	+	20	3517	c.2855G>C	c.(2854-2856)cGg>cCg	p.R952P	IPO13_ENST00000372339.3_Missense_Mutation_p.R170P	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	952					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTGCTGTGCCGGGGTCTCCAT	0.557													5	22					0	0	0	0	C	44433317	G	C	44433317	3	2	112	1	0	0	0	0	1	0	0	0	7847	1116	39	3	2933	3	IPO13	1	44433317	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	10049482	44433317	204817304	9	21207											
ZYG11B	79699	broad.mit.edu	37	chr1	53237308	53237308	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacctaaccttgtttctctGgatgtttctgggagaaagca	9	14	9	9	0	2	1	0	0	2	1	3	3	2	2	2	2	3	3	2	2	3	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:53237308G>T	ENST00000294353.6	+	3	958	c.813G>T	c.(811-813)ctG>ctT	p.L271L	ZYG11B_ENST00000443756.2_Silent_p.L271L|ZYG11B_ENST00000545132.1_Silent_p.L271L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	271							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TTGTTTCTCTGGATGTTTCTG	0.403													11	28					3.07112e-06	3.78904e-06	1	0	T	53237308	G	T	53237308	2	4	112	1	0	0	0	0	0	0	0	1	18344	1335	47	4		4	ZYG11B	1	53237308	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	8803991	53237308	196013313	10	21208											
BSND	7809	broad.mit.edu	37	chr1	55474122	55474122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcagcagtgggaaataGccctgcccaacaactggcag	12	4	14	11	0	0	0	0	0	0	0	0	1	0	1	2	4	5	3	2	4	4	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:55474122G>A	ENST00000371265.4	+	4	1038	c.784G>A	c.(784-786)Gcc>Acc	p.A262T		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	262						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GTGGGAAATAGCCCTGCCCAA	0.597													8	20					0	0	0	0	A	55474122	G	A	55474122	3	1	112	1	0	0	0	0	1	0	0	0	1539	971	34	4	798	4	BSND	1	55474122	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	2236814	55474122	193776499	11	21209											
LHX8	431707	broad.mit.edu	37	chr1	75602803	75602803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtgagccccgagggagcgGgggacgaggactcgtgctcc	7	4	19	11	4	0	1	0	1	0	0	2	6	1	4	3	5	3	1	3	5	0	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:75602803G>A	ENST00000294638.5	+	4	788	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	LHX8_ENST00000356261.3_Missense_Mutation_p.G32R|LHX8_ENST00000559413.1_3'UTR	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	42						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CGAGGGAGCGGGGGACGAGGA	0.721													14	25					0	0	0	0	A	75602803	G	A	75602803	3	1	112	1	0	0	0	0	1	0	0	0	8830	1232	43	4	134	4	LHX8	1	75602803	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	20128681	75602803	173647818	12	21210											
IFI44	10561	broad.mit.edu	37	chr1	79119927	79119927	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctttgattatttccccaGattcactggatgaaagaaag	13	14	7	7	0	2	4	1	2	1	2	3	5	3	5	2	1	0	0	2	1	3	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:79119927G>C	ENST00000370747.4	+	3	542		c.e3-1		IFI44_ENST00000545124.1_Splice_Site|IFI44_ENST00000495254.1_Splice_Site	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44						response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TATTTCCCCAGATTCACTGGA	0.303													7	10					0	0	0	0	C	79119927	G	C	79119927	5	2	112	1	0	0	0	0	0	0	1	0	7570	956	33	2	463	2	IFI44	1	79119927	Splice_Site	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	3517124	79119927	170130694	13	21211											
LPHN2	23266	broad.mit.edu	37	chr1	82433865	82433865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaattttgcaattctcatGgcccacagggaaattgcagt	12	11	8	10	0	1	0	1	0	1	0	2	1	1	1	2	2	2	2	2	2	3	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:82433865G>T	ENST00000370728.1	+	16	3138	c.2493G>T	c.(2491-2493)atG>atT	p.M831I	LPHN2_ENST00000370717.2_Missense_Mutation_p.M831I|LPHN2_ENST00000370730.1_Missense_Mutation_p.M831I|LPHN2_ENST00000370725.1_Missense_Mutation_p.M831I|LPHN2_ENST00000394879.1_Missense_Mutation_p.M818I|LPHN2_ENST00000370715.1_Missense_Mutation_p.M818I|LPHN2_ENST00000359929.3_Missense_Mutation_p.M818I|LPHN2_ENST00000319517.6_Missense_Mutation_p.M818I|LPHN2_ENST00000271029.4_Missense_Mutation_p.M831I|LPHN2_ENST00000370713.1_Missense_Mutation_p.M818I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.M831I|LPHN2_ENST00000370721.1_Missense_Mutation_p.M756I|LPHN2_ENST00000370723.1_Missense_Mutation_p.M818I|LPHN2_ENST00000370727.1_Missense_Mutation_p.M831I			O95490	LPHN2_HUMAN	latrophilin 2	831	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAATTCTCATGGCCCACAGGG	0.423													15	30					7.81268e-19	1.22476e-18	1	0	T	82433865	G	T	82433865	3	4	112	1	0	0	0	0	1	0	0	0	8980	1348	47	4	2496	4	LPHN2	1	82433865	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	3313938	82433865	166816756	14	21212											
S1PR1	1901	broad.mit.edu	37	chr1	101704868	101704868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgtctggggccaccaccTacaagctcactcccgcccag	7	8	8	18	1	3	0	1	0	2	0	4	0	4	0	5	2	2	1	5	2	2	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:101704868T>C	ENST00000305352.6	+	2	703	c.328T>C	c.(328-330)Tac>Cac	p.Y110H	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	110					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GGCCACCACCTACAAGCTCAC	0.567											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	33					0	0	0	0	C	101704868	T	C	101704868	3	2	112	1	0	0	0	0	1	0	0	0	13878	1522	53	5	330	5	S1PR1	1	101704868	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	19271003	101704868	147545753	15	21213											
OLFM3	118427	broad.mit.edu	37	chr1	102270115	102270115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaggtatcttggttaagttgGctgatgacaatattgcctgc	10	14	11	6	0	1	2	0	2	1	0	1	2	1	2	1	3	2	4	1	3	5	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:102270115G>T	ENST00000370103.4	-	6	1269	c.1056C>A	c.(1054-1056)agC>agA	p.S352R	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.S372R	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	372	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GGTTAAGTTGGCTGATGACAA	0.488													13	27					7.03913e-09	9.47191e-09	1	0	T	102270115	G	T	102270115	3	4	112	1	0	0	0	0	1	0	0	0	10925	1194	42	4	324	4	OLFM3	1	102270115	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	565247	102270115	146980506	16	21214											
COL11A1	1301	broad.mit.edu	37	chr1	103444945	103444945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatatatcatacccgtgcaCctttctctccattggcacct	8	15	4	14	1	2	0	1	0	1	0	4	0	3	0	4	1	2	2	4	1	4	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:103444945C>G	ENST00000358392.2	-	32	2956	c.2639G>C	c.(2638-2640)gGt>gCt	p.G880A	COL11A1_ENST00000512756.1_Missense_Mutation_p.G752A|COL11A1_ENST00000370096.3_Missense_Mutation_p.G868A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G829A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	868	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACCCGTGCACCTTTCTCTCC	0.373													5	9					0	0	0	0	G	103444945	C	G	103444945	3	3	112	1	0	0	0	0	1	0	0	0	3697	507	18	4	2961	4	COL11A1	1	103444945	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	1174830	103444945	145805676	17	21215											
COL11A1	1301	broad.mit.edu	37	chr1	103480122	103480122	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctgagcagagatggttggtCctttggaaccatcaccacca	10	9	10	12	0	1	2	1	1	0	1	2	4	2	3	5	3	2	2	5	3	1	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:103480122C>G	ENST00000358392.2	-	13	1870	c.1553G>C	c.(1552-1554)gGa>gCa	p.G518A	COL11A1_ENST00000512756.1_Missense_Mutation_p.G390A|COL11A1_ENST00000370096.3_Missense_Mutation_p.G506A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G467A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	506	Telopeptide.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATGGTTGGTCCTTTGGAACC	0.418													6	13					0	0	0	0	G	103480122	C	G	103480122	3	3	112	1	0	0	0	0	1	0	0	0	3697	855	30	2	4123	2	COL11A1	1	103480122	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	35177	103480122	145770499	18	21216											
COL11A1	1301	broad.mit.edu	37	chr1	103487291	103487291	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgctggttctcctttcTgtcctttctctccatatgca	4	17	5	15	0	3	0	0	0	3	0	7	0	5	0	4	1	2	3	4	1	1	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:103487291T>G	ENST00000358392.2	-	9	1633	c.1316A>C	c.(1315-1317)cAg>cCg	p.Q439P	COL11A1_ENST00000512756.1_Missense_Mutation_p.Q311P|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q427P|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q388P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	427	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCTCCTTTCTGTCCTTTCTC	0.353													12	24					0	0	0	0	G	103487291	T	G	103487291	3	3	112	1	0	0	0	0	1	0	0	0	3697	1580	55	5	4376	5	COL11A1	1	103487291	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	7169	103487291	145763330	19	21217											
NTNG1	22854	broad.mit.edu	37	chr1	107867514	107867514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacttggcacgctacttttAcgcgatctcagacataaagg	12	10	8	11	3	1	1	1	0	1	1	2	2	1	1	0	2	2	2	0	2	4	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:107867514A>G	ENST00000370067.1	+	3	1484	c.857A>G	c.(856-858)tAc>tGc	p.Y286C	NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370073.2_Missense_Mutation_p.Y286C|NTNG1_ENST00000370074.4_Missense_Mutation_p.Y286C|NTNG1_ENST00000370071.2_Missense_Mutation_p.Y286C|NTNG1_ENST00000370070.2_Missense_Mutation_p.Y286C|NTNG1_ENST00000542803.1_Missense_Mutation_p.Y286C|NTNG1_ENST00000370061.3_Missense_Mutation_p.Y286C|NTNG1_ENST00000370065.1_Missense_Mutation_p.Y286C|NTNG1_ENST00000370072.3_Missense_Mutation_p.Y286C|NTNG1_ENST00000370066.1_Missense_Mutation_p.Y286C|NTNG1_ENST00000370068.1_Missense_Mutation_p.Y286C			Q9Y2I2	NTNG1_HUMAN	netrin G1	286	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CGCTACTTTTACGCGATCTCA	0.463													14	32					0	0	0	0	G	107867514	A	G	107867514	3	3	112	1	0	0	0	0	1	0	0	0	10775	391	14	5	863	5	NTNG1	1	107867514	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	4380223	107867514	141383107	20	21218											
KCNC4	3749	broad.mit.edu	37	chr1	110765816	110765816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggtgcgcatcgtgtgctgCcccgacacgctggacttcgt	4	10	13	14	5	0	0	0	0	0	0	2	2	0	1	2	2	3	3	2	2	0	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:110765816C>T	ENST00000369787.3	+	2	936	c.909C>T	c.(907-909)tgC>tgT	p.C303C	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Silent_p.C303C|KCNC4_ENST00000438661.2_Silent_p.C303C	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	303					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCGTGTGCTGCCCCGACACGC	0.592													34	57					0	0	0	0	T	110765816	C	T	110765816	2	4	112	1	0	0	0	0	0	0	0	1	8070	747	26	4		4	KCNC4	1	110765816	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	2898302	110765816	138484805	21	21219											
LCE2B	26239	broad.mit.edu	37	chr1	152659361	152659361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtgccagccccctccCaagtgtcctcccaagtgtac	8	7	8	18	0	0	0	0	0	0	0	3	0	3	0	6	0	4	2	6	0	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:152659361C>T	ENST00000368780.3	+	2	96	c.42C>T	c.(40-42)ccC>ccT	p.P14P	LCE2B_ENST00000417924.2_Silent_p.P14P	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	14	Cys-rich.|Pro-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCCCCTCCCAAGTGTCCTC	0.498													29	93					0	0	0	0	T	152659361	C	T	152659361	2	4	112	1	0	0	0	0	0	0	0	1	8719	581	21	4		4	LCE2B	1	152659361	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	41893545	152659361	96591260	22	21220											
SMG5	23381	broad.mit.edu	37	chr1	156222723	156222723	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttacctgtccttgggatGatgacaatgaagcggccact	10	11	10	10	1	0	3	0	3	0	0	1	4	1	4	3	2	3	0	3	2	4	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:156222723G>A	ENST00000361813.5	-	18	2793	c.2649C>T	c.(2647-2649)atC>atT	p.I883I	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	883	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TCCTTGGGATGATGACAATGA	0.532													9	10					0	0	0	0	A	156222723	G	A	156222723	2	1	112	1	0	0	0	0	0	0	0	1	14884	1280	45	2		2	SMG5	1	156222723	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	3563362	156222723	93027898	23	21221											
FCRL5	83416	broad.mit.edu	37	chr1	157516733	157516733	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctttcacgctctctcacCtgaagaaaaatccaagtgca	12	10	6	13	2	4	2	2	1	2	1	6	2	5	2	2	0	1	2	2	0	4	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:157516733C>A	ENST00000361835.3	-	3	464	c.307_splice	c.e3+1	p.A103_splice	FCRL5_ENST00000368188.2_Splice_Site_p.E103_splice|FCRL5_ENST00000368189.3_Splice_Site_p.A103_splice|FCRL5_ENST00000356953.4_Splice_Site_p.A103_splice|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368190.3_Splice_Site_p.A103_splice	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	103						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCTCTCTCACCTGAAGAAAAA	0.483													11	29					2.80697e-09	3.82038e-09	1	0	A	157516733	C	A	157516733	5	1	112	1	0	0	0	0	0	0	1	0	5843	695	24	4	2686	4	FCRL5	1	157516733	Splice_Site	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	1294010	157516733	91733888	24	21222											
OR6K3	391114	broad.mit.edu	37	chr1	158687612	158687612	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaaatacatctgcaaGatgcagccagtcattgagat	15	9	10	7	0	2	3	1	1	1	3	2	5	2	4	1	1	4	2	1	1	4	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:158687612G>T	ENST00000368146.1	-	1	341	c.342C>A	c.(340-342)atC>atA	p.I114I	OR6K3_ENST00000368145.1_Silent_p.I98I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ACATCTGCAAGATGCAGCCAG	0.478													34	60					2.08457e-15	3.1941e-15	1	0	T	158687612	G	T	158687612	2	4	112	1	0	0	0	0	0	0	0	1	11274	932	33	2		2	OR6K3	1	158687612	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1170879	158687612	90563009	25	21223											
VANGL2	57216	broad.mit.edu	37	chr1	160389021	160389021	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaggagctggagccttGcgggacggcctgcgagggcc	5	4	21	11	4	0	0	0	0	0	0	0	5	0	4	3	6	4	1	3	6	0	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:160389021G>C	ENST00000368061.2	+	4	896	c.422G>C	c.(421-423)tGc>tCc	p.C141S		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	141					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGAGCCTTGCGGGACGGCC	0.677													19	54					0	0	0	0	C	160389021	G	C	160389021	3	2	112	1	0	0	0	0	1	0	0	0	17216	1319	46	4	432	4	VANGL2	1	160389021	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1701409	160389021	88861600	26	21224											
GPA33	10223	broad.mit.edu	37	chr1	167032958	167032958	+	Silent	SNP	T	T	C																															tctccctcgatgccgcattcTggtttggagggtggcactat																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:167032958T>C	ENST00000367868.3	-	4	775	c.432A>G	c.(430-432)ccA>ccG	p.P144P	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	144	Ig-like C2-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGCCGCATTCTGGTTTGGAGG	0.577													17	46					0	0	0	0	C	167032958	T	C	167032958	2	2	112	1	0	0	0	0	0	0	0	1	6635	1567	55	5		5	GPA33	1	167032958	Silent	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	6643937	167032958	82217663	27	21225	175	2									
GPA33	10223	broad.mit.edu	37	chr1	167032959	167032959	+	Missense_Mutation	SNP	G	G	T																															ctccctcgatgccgcattctGgtttggagggtggcactata																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:167032959G>T	ENST00000367868.3	-	4	774	c.431C>A	c.(430-432)cCa>cAa	p.P144Q	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	144	Ig-like C2-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GCCGCATTCTGGTTTGGAGGG	0.577													18	44					5.26018e-13	7.88197e-13	1	0	T	167032959	G	T	167032959	3	4	112	1	0	0	0	0	1	0	0	0	6635	1348	47	4	544	4	GPA33	1	167032959	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1	167032959	82217662	28	21226	175	2									
F5	2153	broad.mit.edu	37	chr1	169510536	169510536	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggctggagaaaggtttgtCtgactgagttctggagagag	10	10	17	4	0	2	4	0	2	2	2	2	7	2	5	0	4	0	3	0	4	1	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:169510536C>T	ENST00000367796.3	-	13	4008	c.3807G>A	c.(3805-3807)caG>caA	p.Q1269Q	F5_ENST00000367797.3_Silent_p.Q1264Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1264	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AAAGGTTTGTCTGACTGAGTT	0.507													83	138					0	0	0	0	T	169510536	C	T	169510536	2	4	112	1	0	0	0	0	0	0	0	1	5386	912	32	2		2	F5	1	169510536	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	2477577	169510536	79740085	29	21227											
SELP	6403	broad.mit.edu	37	chr1	169572298	169572298	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagtctgtccagcgtccCgatcgagtacaatccaatct	9	9	11	12	3	2	0	0	0	2	0	6	3	5	1	3	2	2	1	3	2	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:169572298C>A	ENST00000263686.6	-	10	1708	c.1671G>T	c.(1669-1671)tcG>tcT	p.S557S	SELP_ENST00000367792.2_Intron|SELP_ENST00000367788.2_Silent_p.S495S|SELP_ENST00000367791.2_Silent_p.S433S|SELP_ENST00000367794.2_Silent_p.S495S|SELP_ENST00000367786.2_Silent_p.S495S|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Silent_p.S495S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	557	Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TCCAGCGTCCCGATCGAGTAC	0.448													13	38					2.61681e-11	3.75525e-11	1	0	A	169572298	C	A	169572298	2	1	112	1	0	0	0	0	0	0	0	1	14106	639	23	3		3	SELP	1	169572298	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	61762	169572298	79678323	30	21228											
FMO1	2326	broad.mit.edu	37	chr1	171249998	171249998	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctacccatgggacatggTgttcatgacacgctttcaga	9	10	12	10	1	2	2	2	1	0	1	2	3	2	3	1	3	1	3	1	3	1	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:171249998T>G	ENST00000354841.4	+	5	832	c.701T>G	c.(700-702)gTg>gGg	p.V234G	FMO1_ENST00000402921.2_Missense_Mutation_p.V171G|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.V234G			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	234					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.V234A(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGACATGGTGTTCATGACA	0.498													16	33					0	0	0	0	G	171249998	T	G	171249998	3	3	112	1	0	0	0	0	1	0	0	0	5999	1696	59	5	719	5	FMO1	1	171249998	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	1677700	171249998	78000623	31	21229											
SERPINC1	462	broad.mit.edu	37	chr1	173878796	173878796	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaagcggggcatgtggacCaccagcatcatctcctccaa	10	6	11	14	2	2	0	1	0	1	0	4	2	3	2	4	4	2	2	4	4	2	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:173878796C>A	ENST00000367698.3	-	5	1165	c.1047G>T	c.(1045-1047)gtG>gtT	p.V349V		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	349					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GCATGTGGACCACCAGCATCA	0.552													40	64					3.54561e-26	5.80746e-26	1	0	A	173878796	C	A	173878796	2	1	112	1	0	0	0	0	0	0	0	1	14196	581	21	4		4	SERPINC1	1	173878796	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	2628798	173878796	75371825	32	21230											
TNN	63923	broad.mit.edu	37	chr1	175092695	175092695	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggaaggagcacagcaGcactgtcctgacgggcctga	9	5	17	10	1	0	2	0	2	0	0	1	4	1	4	2	5	3	3	2	5	1	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:175092695G>C	ENST00000239462.4	+	12	2923	c.2810G>C	c.(2809-2811)aGc>aCc	p.S937T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	937	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAGCACAGCAGCACTGTCCTG	0.627													14	40					0	0	0	0	C	175092695	G	C	175092695	3	2	112	1	0	0	0	0	1	0	0	0	16417	971	34	4	2852	4	TNN	1	175092695	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1213899	175092695	74157926	33	21231											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179820247	179820247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgatgcccttttccgccatCcagaaaactctgcttgttct	7	14	7	13	1	2	2	0	1	2	1	4	2	4	2	4	0	3	2	4	0	2	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:179820247C>T	ENST00000367612.3	-	4	673	c.286G>A	c.(286-288)Gat>Aat	p.D96N		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	96						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TTTCCGCCATCCAGAAAACTC	0.448													7	34					0	0	0	0	T	179820247	C	T	179820247	3	4	112	1	0	0	0	0	1	0	0	0	16468	855	30	2	1138	2	TOR1AIP2	1	179820247	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	4727552	179820247	69430374	34	21232											
PLA2G4A	5321	broad.mit.edu	37	chr1	186948481	186948481	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgaggaagagaaagaaatCgctgactttgatatttttga	15	12	10	4	1	0	6	0	4	0	2	1	8	0	7	0	1	0	1	0	1	4	4	rs149831494	byFrequency	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:186948481C>T	ENST00000367466.3	+	17	2147	c.1995C>T	c.(1993-1995)atC>atT	p.I665I	PLA2G4A_ENST00000442353.2_Silent_p.I605I	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	665	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	AGAAAGAAATCGCTGACTTTG	0.348													8	22					0	0	0	0	T	186948481	C	T	186948481	2	4	112	1	0	0	0	0	0	0	0	1	12073	874	31	1		1	PLA2G4A	1	186948481	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	7128234	186948481	62302140	35	21233											
CRB1	23418	broad.mit.edu	37	chr1	197404094	197404094	+	Frame_Shift_Del	DEL	G	G	-																															gtcagtgaatgatggcacatGgcacgaagtgaccctttcca																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:197404094delG	ENST00000367397.1	+	5	2102	c.1244delG	c.(1243-1245)tgfs	p.W415fs	CRB1_ENST00000535699.1_Frame_Shift_Del_p.W1010fs|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Frame_Shift_Del_p.W1034fs|CRB1_ENST00000544212.1_Frame_Shift_Del_p.W515fs|CRB1_ENST00000367399.2_Frame_Shift_Del_p.W922fs			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1034	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GATGGCACATGGCACGAAGTG	0.443													22	31	---	---	---	---					-	197404094	G	-	197404094	7	5	112	1	0	1	0	1	0	0	0	0	3878	1357	47	0	3135	0	CRB1	1	197404094	Frame_Shift_Del	DEL	G	TCGA-CN-A497-01A-11D-A24D-08	10455613	197404094	51846527	36	21234											
KIF14	9928	broad.mit.edu	37	chr1	200539118	200539118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagaaattcttctgttcttCatcaaactcctactcctgaa	11	14	3	13	0	5	2	2	1	3	1	7	2	7	2	3	0	2	1	3	0	4	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:200539118C>T	ENST00000367350.4	-	23	4020	c.3582G>A	c.(3580-3582)atG>atA	p.M1194I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1194	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCTGTTCTTCATCAAACTCC	0.289													4	15					0	0	0	0	T	200539118	C	T	200539118	3	4	112	1	0	0	0	0	1	0	0	0	8327	826	29	2	1396	2	KIF14	1	200539118	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	3135024	200539118	48711503	37	21235											
PLXNA2	5362	broad.mit.edu	37	chr1	208212312	208212312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggactgttctcgttgtcaggGttgacgcagttcaggatcta	7	13	13	8	2	4	1	2	1	2	0	5	3	4	3	0	3	0	5	0	3	1	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:208212312G>C	ENST00000367033.3	-	25	5275	c.4518C>G	c.(4516-4518)aaC>aaG	p.N1506K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1506					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CGTTGTCAGGGTTGACGCAGT	0.488													13	31					0	0	0	0	C	208212312	G	C	208212312	3	2	112	1	0	0	0	0	1	0	0	0	12192	1252	44	4	1198	4	PLXNA2	1	208212312	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	7673194	208212312	41038309	38	21236											
PLXNA2	5362	broad.mit.edu	37	chr1	208224641	208224641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcgatgcgctggacccgagGgtcatctatgtactcaaact	9	10	10	12	3	3	0	2	0	1	0	4	3	3	1	1	2	3	2	1	2	3	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:208224641G>A	ENST00000367033.3	-	16	3878	c.3121C>T	c.(3121-3123)Cct>Tct	p.P1041S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1041	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGGACCCGAGGGTCATCTATG	0.597													12	24					0	0	0	0	A	208224641	G	A	208224641	3	1	112	1	0	0	0	0	1	0	0	0	12192	1232	43	4	2631	4	PLXNA2	1	208224641	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	12329	208224641	41025980	39	21237											
USH2A	7399	broad.mit.edu	37	chr1	215848509	215848509	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acattccaagagctacaggtAtgcccagctgaattccaagt	13	9	8	11	0	0	2	0	1	0	1	2	2	2	2	3	1	4	3	3	1	5	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:215848509A>G	ENST00000366943.2	-	63	13130	c.12744T>C	c.(12742-12744)caT>caC	p.H4248H	USH2A_ENST00000307340.3_Silent_p.H4248H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4248	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCTACAGGTATGCCCAGCTG	0.413										HNSCC(13;0.011)			12	16					0	0	0	0	G	215848509	A	G	215848509	2	3	112	1	0	0	0	0	0	0	0	1	17132	446	16	5		5	USH2A	1	215848509	Silent	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	7623868	215848509	33402112	40	21238											
USH2A	7399	broad.mit.edu	37	chr1	216172258	216172258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgagatatttattaccagGtaaaacgtattgtagcatat	15	14	8	4	1	0	1	0	1	0	1	0	3	0	1	1	1	3	4	1	1	8	9			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:216172258G>T	ENST00000366943.2	-	34	7014	c.6628C>A	c.(6628-6630)Cct>Act	p.P2210T	USH2A_ENST00000307340.3_Missense_Mutation_p.P2210T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2210	Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTATTACCAGGTAAAACGTAT	0.373										HNSCC(13;0.011)			9	11					1	1	1	0	T	216172258	G	T	216172258	3	4	112	1	0	0	0	0	1	0	0	0	17132	1261	44	4	9136	4	USH2A	1	216172258	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	323749	216172258	33078363	41	21239											
CAPN9	10753	broad.mit.edu	37	chr1	230883368	230883368	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgcagagaggcaccctGtttgaggatgcagacttccc	8	9	12	12	0	0	3	0	1	0	2	1	5	1	4	3	2	3	4	3	2	0	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:230883368G>A	ENST00000354537.1	+	1	208	c.126G>A	c.(124-126)ctG>ctA	p.L42L	CAPN9_ENST00000366666.2_Silent_p.L42L|CAPN9_ENST00000271971.2_Silent_p.L42L|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	42	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GAGGCACCCTGTTTGAGGATG	0.607													17	52					0	0	0	0	A	230883368	G	A	230883368	2	1	112	1	0	0	0	0	0	0	0	1	2657	1364	48	4		4	CAPN9	1	230883368	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	14711110	230883368	18367253	42	21240											
KIAA1804	84451	broad.mit.edu	37	chr1	233515058	233515058	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcttccagcgggcttccaAgtcccgcagaagcgccagtc	9	7	10	15	3	1	1	0	0	1	1	5	1	4	1	4	1	2	2	4	1	3	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:233515058A>G	ENST00000366624.3	+	9	2567	c.2306A>G	c.(2305-2307)aAg>aGg	p.K769R	MLK4_ENST00000366622.1_Missense_Mutation_p.K215R	NM_032435.2	NP_115811.2																					CGGGCTTCCAAGTCCCGCAGA	0.602													15	50					0	0	0	0	G	233515058	A	G	233515058	3	3	112	1	0	0	0	0	1	0	0	0	8310	72	3	5	2340	5	KIAA1804	1	233515058	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	2631690	233515058	15735563	43	21241											
SLC35F3	148641	broad.mit.edu	37	chr1	234041452	234041452	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtccatcgaggagcggatCctgcgcatcactggctacta	9	8	11	13	4	1	0	1	0	0	0	4	3	3	2	2	3	3	2	2	3	2	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:234041452C>A	ENST00000366618.3	+	2	376	c.231C>A	c.(229-231)atC>atA	p.I77I		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGGAGCGGATCCTGCGCATCA	0.592													31	56					3.67414e-24	5.97677e-24	1	0	A	234041452	C	A	234041452	2	1	112	1	0	0	0	0	0	0	0	1	14678	845	30	2		2	SLC35F3	1	234041452	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	526394	234041452	15209169	44	21242											
RYR2	6262	broad.mit.edu	37	chr1	237604783	237604783	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggatctatacaacgtaaGgtaaggtgatagaaaaaaac	19	8	10	4	1	1	2	0	1	1	1	1	3	1	3	0	3	3	2	0	3	9	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:237604783G>C	ENST00000366574.2	+	13	1487	c.1170_splice	c.e13+1	p.K390_splice	RYR2_ENST00000542537.1_Splice_Site_p.K374_splice|RYR2_ENST00000360064.6_Splice_Site_p.K388_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	390	MIR 5.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACAACGTAAGGTAAGGTGAT	0.353													8	20					0	0	0	0	C	237604783	G	C	237604783	5	2	112	1	0	0	0	0	0	0	1	0	13854	1014	35	4	1220	4	RYR2	1	237604783	Splice_Site	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	3563331	237604783	11645838	45	21243											
CHML	1122	broad.mit.edu	37	chr1	241797420	241797420	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatattaaaataaagagccCacaagagtcttggctttgta	15	12	7	7	0	2	2	1	0	1	2	2	2	2	2	1	1	1	2	1	1	7	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:241797420C>T	ENST00000366553.1	-	1	1812	c.1649G>A	c.(1648-1650)tGg>tAg	p.W550*	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	550					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATAAAGAGCCCACAAGAGTCT	0.418													9	20					0	0	0	0	T	241797420	C	T	241797420	4	4	112	1	0	0	0	0	0	1	0	0	3380	595	21	4	325	4	CHML	1	241797420	Nonsense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	4192637	241797420	7453201	46	21244											
OR2L3	391192	broad.mit.edu	37	chr1	248224437	248224437	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtcttggatcataggcTcgatcaatgcttgtgctcac	8	12	11	10	1	4	0	3	0	1	0	5	2	4	1	0	3	2	3	0	3	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:248224437T>A	ENST00000359959.3	+	1	454	c.454T>A	c.(454-456)Tcg>Acg	p.S152T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GATCATAGGCTCGATCAATGC	0.433													32	67					0	0	0	0	A	248224437	T	A	248224437	3	1	112	1	0	0	0	0	1	0	0	0	11079	1551	54	5	456	5	OR2L3	1	248224437	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	6427017	248224437	1026184	47	21245											
OR2T4	127074	broad.mit.edu	37	chr1	248525459	248525459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatggcttcacattcactCccatcaccatgaccttcccc	8	11	5	17	0	3	1	3	1	0	0	5	2	5	2	5	2	0	1	5	2	0	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:248525459C>A	ENST00000366475.1	+	1	577	c.577C>A	c.(577-579)Ccc>Acc	p.P193T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACATTCACTCCCATCACCAT	0.522													53	104					5.39261e-20	8.62455e-20	1	0	A	248525459	C	A	248525459	3	1	112	1	0	0	0	0	1	0	0	0	11098	855	30	2	579	2	OR2T4	1	248525459	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	301022	248525459	725162	48	21246											
UBXN2A	165324	broad.mit.edu	37	chr2	24181170	24181170	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttctttgtacttttacaGtaaggcgaaagagaatgaaa	15	13	8	5	1	1	2	0	1	1	1	1	4	1	2	0	1	2	2	0	1	6	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:24181170G>T	ENST00000309033.4	+	2	230		c.e2-1		UBXN2A_ENST00000404924.1_Splice_Site|UBXN2A_ENST00000535786.1_Splice_Site|UBXN2A_ENST00000446425.2_Splice_Site	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A											endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TACTTTTACAGTAAGGCGAAA	0.279													4	13					0.150653	0.153563	1	0	T	24181170	G	T	24181170	5	4	112	1	0	0	0	0	0	0	1	0	17010	1043	36	4		4	UBXN2A	2	24181170	Splice_Site	SNP	G	TCGA-CN-A497-01A-11D-A24D-08		24181170	219018203	49	21247											
PPP1CB	5500	broad.mit.edu	37	chr2	29006792	29006792	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggattgtcaccagacctgcaAtctatggagcagattcggag	11	9	12	9	1	2	2	1	0	1	2	3	5	2	5	2	3	2	2	2	3	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:29006792A>G	ENST00000395366.2	+	5	812	c.540A>G	c.(538-540)caA>caG	p.Q180Q	SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000296122.6_Silent_p.Q180Q|PPP1CB_ENST00000358506.2_Silent_p.Q180Q	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	180					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAGACCTGCAATCTATGGAGC	0.318													11	14					0	0	0	0	G	29006792	A	G	29006792	2	3	112	1	0	0	0	0	0	0	0	1	12426	98	4	5		5	PPP1CB	2	29006792	Silent	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	4825622	29006792	214192581	50	21248											
SLC8A1	6546	broad.mit.edu	37	chr2	40366589	40366589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgactgcagtcacagaatCtttcaggccaatggtgcagc	11	8	10	12	1	3	1	2	0	1	1	3	2	3	1	1	2	3	2	1	2	2	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:40366589C>A	ENST00000406785.1	-	7	2578	c.2389G>T	c.(2389-2391)Gat>Tat	p.D797Y	SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D797Y|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D828Y|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D825Y|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D797Y|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D833Y|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D797Y|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D833Y|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D828Y|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D797Y|SLC8A1-AS1_ENST00000435515.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	833					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	GTCACAGAATCTTTCAGGCCA	0.483													7	22					8.12818e-05	9.43982e-05	1	0	A	40366589	C	A	40366589	3	1	112	1	0	0	0	0	1	0	0	0	14794	913	32	2	432	2	SLC8A1	2	40366589	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	11359797	40366589	202832784	51	21249											
FSHR	2492	broad.mit.edu	37	chr2	49381409	49381409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccctctgatactcacagttCaatggcattcctcgggaggt	8	12	9	12	1	3	1	2	1	1	0	6	2	5	2	2	3	1	2	2	3	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:49381409C>G	ENST00000406846.2	-	1	267	c.148G>C	c.(148-150)Gaa>Caa	p.E50Q	FSHR_ENST00000346173.3_Missense_Mutation_p.E50Q|FSHR_ENST00000304421.4_Missense_Mutation_p.E50Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	50					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.E50K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ACTCACAGTTCAATGGCATTC	0.453									Gonadal Dysgenesis, 46 XX				7	13					0	0	0	0	G	49381409	C	G	49381409	3	3	112	1	0	0	0	0	1	0	0	0	6121	835	29	2	1979	2	FSHR	2	49381409	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	9014820	49381409	193817964	52	21250											
MRPL19	9801	broad.mit.edu	37	chr2	75879711	75879711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaaaatcagccagtttctgGggatttgcattcagagatca	13	11	10	7	0	4	1	3	0	1	1	4	4	4	2	1	2	2	2	1	2	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:75879711G>C	ENST00000393909.2	+	4	428	c.403G>C	c.(403-405)Ggg>Cgg	p.G135R	MRPL19_ENST00000358788.6_Missense_Mutation_p.G135R|MRPL19_ENST00000409374.1_Missense_Mutation_p.G135R	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	135					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						CCAGTTTCTGGGGATTTGCAT	0.378													16	40					0	0	0	0	C	75879711	G	C	75879711	3	2	112	1	0	0	0	0	1	0	0	0	9854	1232	43	4	417	4	MRPL19	2	75879711	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	26498302	75879711	167319662	53	21251											
TEKT4	150483	broad.mit.edu	37	chr2	95537376	95537376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgcaaagagtacgacgtgGcccgtaacacgggcgcctac	10	5	12	14	5	0	1	0	0	0	1	0	2	0	1	3	2	4	3	3	2	4	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:95537376G>A	ENST00000295201.4	+	1	189	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.A18T	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	18					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GTACGACGTGGCCCGTAACAC	0.662													13	32					0	0	0	0	A	95537376	G	A	95537376	3	1	112	1	0	0	0	0	1	0	0	0	15849	1203	42	4	54	4	TEKT4	2	95537376	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	19657665	95537376	147661997	54	21252											
ACTR1B	10120	broad.mit.edu	37	chr2	98274980	98274980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcggaggtagcgggagacGtcgcggccggcaatgtccac	8	5	17	11	6	0	1	0	0	0	1	3	3	1	2	2	5	1	2	2	5	2	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:98274980G>A	ENST00000289228.5	-	6	783	c.567C>T	c.(565-567)gaC>gaT	p.D189D		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	189						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						AGCGGGAGACGTCGCGGCCGG	0.587													18	36					0	0	0	0	A	98274980	G	A	98274980	2	1	112	1	0	0	0	0	0	0	0	1	210	1136	40	1		1	ACTR1B	2	98274980	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	2737604	98274980	144924393	55	21253											
SULT1C2	6819	broad.mit.edu	37	chr2	108910170	108910170	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagataaaactgaaagaggTggaggggaccctcctgcagc	14	5	13	9	0	0	3	0	1	0	2	1	5	1	5	2	4	3	1	2	4	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:108910170T>A	ENST00000326853.5	+	2	500	c.47T>A	c.(46-48)gTg>gAg	p.V16E	SULT1C2_ENST00000409880.1_Missense_Mutation_p.V16E|SULT1C2_ENST00000251481.6_Missense_Mutation_p.V16E|SULT1C2_ENST00000437390.2_Missense_Mutation_p.V16E|SULT1C2_ENST00000492554.1_3'UTR	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	16					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CTGAAAGAGGTGGAGGGGACC	0.512													11	23					0	0	0	0	A	108910170	T	A	108910170	3	1	112	1	0	0	0	0	1	0	0	0	15467	1696	59	5	49	5	SULT1C2	2	108910170	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	10635190	108910170	134289203	56	21254											
POTEE	445582	broad.mit.edu	37	chr2	131976077	131976077	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccgttgcttcccctgCtacagggagagcggcaagag	7	8	14	12	2	0	2	0	0	0	2	1	3	1	2	3	2	6	5	3	2	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:131976077C>T	ENST00000356920.5	+	1	196	c.102C>T	c.(100-102)tgC>tgT	p.C34C	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.C34C|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	34							ATP binding										GCTTCCCCTGCTACAGGGAGA	0.567													63	131					0	0	0	0	T	131976077	C	T	131976077	2	4	112	1	0	0	0	0	0	0	0	1	12336	805	28	4		4	POTEE	2	131976077	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	23065907	131976077	111223296	57	21255											
LRP1B	53353	broad.mit.edu	37	chr2	141777553	141777553	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcaccctctaaaagagtcttCcgactctgagaagctttttc	10	13	6	12	1	4	2	1	1	3	2	6	4	5	2	2	0	1	1	2	0	3	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:141777553C>G	ENST00000389484.3	-	12	2879	c.1908G>C	c.(1906-1908)cgG>cgC	p.R636R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	636					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAGAGTCTTCCGACTCTGAG	0.408										TSP Lung(27;0.18)			19	35					0	0	0	0	G	141777553	C	G	141777553	2	3	112	1	0	0	0	0	0	0	0	1	9019	842	30	2		2	LRP1B	2	141777553	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	9801476	141777553	101421820	58	21256											
KYNU	8942	broad.mit.edu	37	chr2	143742671	143742671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggttgttatgttggctttGatctagcacatgcagttgga	8	15	13	5	0	1	1	0	1	1	0	1	2	1	2	0	3	2	7	0	3	2	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:143742671G>T	ENST00000264170.4	+	9	1006	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	KYNU_ENST00000375773.2_Missense_Mutation_p.D250Y|KYNU_ENST00000409512.1_Missense_Mutation_p.D250Y	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	250					anthranilate metabolic process|NAD biosynthetic 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)	TGTTGGCTTTGATCTAGCACA	0.343													7	21					0.00307968	0.00334748	1	0	T	143742671	G	T	143742671	3	4	112	1	0	0	0	0	1	0	0	0	8640	1290	45	2	778	2	KYNU	2	143742671	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1965118	143742671	99456702	59	21257											
XIRP2	129446	broad.mit.edu	37	chr2	168106475	168106475	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgtcaagcaaaaggttaTcgatgcacatcttgattcac	12	11	9	9	2	3	1	2	1	1	0	5	2	3	1	0	2	2	3	0	2	4	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:168106475T>A	ENST00000409195.1	+	9	8662	c.8573T>A	c.(8572-8574)aTc>aAc	p.I2858N	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I2636N|XIRP2_ENST00000295237.9_Missense_Mutation_p.I2858N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2683					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						CAAAAGGTTATCGATGCACAT	0.368													17	34					0	0	0	0	A	168106475	T	A	168106475	3	1	112	1	0	0	0	0	1	0	0	0	17526	1435	50	5	8603	5	XIRP2	2	168106475	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	24363804	168106475	75092898	60	21258											
METTL8	79828	broad.mit.edu	37	chr2	172187160	172187160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtaagccatcatcacataCatcatgaacaaaggcaaaac	19	6	6	10	0	3	1	3	1	0	0	3	1	3	1	1	2	4	2	1	2	6	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:172187160C>T	ENST00000375258.3	-	7	984	c.769G>A	c.(769-771)Gta>Ata	p.V257I				B3KW44	B3KW44_HUMAN	methyltransferase like 8	257							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						TCATCACATACATCATGAACA	0.433													6	24					0	0	0	0	T	172187160	C	T	172187160	3	4	112	1	0	0	0	0	1	0	0	0	9576	478	17	4	470	4	METTL8	2	172187160	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	4080685	172187160	71012213	61	21259											
TTN	7273	broad.mit.edu	37	chr2	179393257	179393257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attcataattaaacttactgGcaggttgtttttaaaccatt	13	17	5	6	0	1	0	1	0	0	0	1	0	1	0	1	2	3	3	1	2	6	9			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:179393257G>T	ENST00000589042.1	-	360	107445	c.107221C>A	c.(107221-107223)Cca>Aca	p.P35741T	TTN_ENST00000342175.6_Missense_Mutation_p.P26868T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P34100T|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26801T|TTN_ENST00000342992.6_Missense_Mutation_p.P33173T|TTN_ENST00000460472.2_Missense_Mutation_p.P26676T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34100							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)			AAACTTACTGGCAGGTTGTTT	0.323													5	5					1	1	1	0	T	179393257	G	T	179393257	3	4	112	1	0	0	0	0	1	0	0	0	16831	1203	42	4	770	4	TTN	2	179393257	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	7206097	179393257	63806116	62	21260											
TTN	7273	broad.mit.edu	37	chr2	179576741	179576741	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgcagatatattctccActatcattaatatcaacctg	12	15	4	10	0	3	1	2	0	1	1	4	1	3	1	2	0	2	2	2	0	6	7			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:179576741A>C	ENST00000589042.1	-	96	28040	c.27816T>G	c.(27814-27816)agT>agG	p.S9272R	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S8955R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S8028R|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8955	Ig-like 76.						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)			TATATTCTCCACTATCATTAA	0.353													5	25					0	0	0	0	C	179576741	A	C	179576741	3	2	112	1	0	0	0	0	1	0	0	0	16831	156	6	5	76781	5	TTN	2	179576741	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	183484	179576741	63622632	63	21261											
ITGA4	3676	broad.mit.edu	37	chr2	182344897	182344897	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggggccccaggatcatctTactggactggctctcttttt	5	14	11	11	0	3	0	1	0	2	0	4	2	3	2	2	5	1	1	2	5	1	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:182344897T>C	ENST00000397033.2	+	6	1088	c.658T>C	c.(658-660)Tac>Cac	p.Y220H		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	220					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGGATCATCTTACTGGACTGG	0.328													4	15					0	0	0	0	C	182344897	T	C	182344897	3	2	112	1	0	0	0	0	1	0	0	0	7931	1754	61	5	680	5	ITGA4	2	182344897	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	2768156	182344897	60854476	64	21262											
FZD7	8324	broad.mit.edu	37	chr2	202900192	202900192	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctctttaccgttctcacCtacctggtggacatgcggcg	6	11	10	14	4	2	0	1	0	2	0	3	1	2	1	3	3	3	2	3	3	2	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:202900192C>G	ENST00000286201.1	+	1	883	c.822C>G	c.(820-822)acC>acG	p.T274T		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	274					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CCGTTCTCACCTACCTGGTGG	0.642											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	151					0	0	0	0	G	202900192	C	G	202900192	2	3	112	1	0	0	0	0	0	0	0	1	6183	668	24	4		4	FZD7	2	202900192	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	20555295	202900192	40299181	65	21263											
PLEKHM3	389072	broad.mit.edu	37	chr2	208795678	208795678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagatcctctgccaccgctgCccggcagctgaacaaatagg	10	6	11	14	2	1	2	0	1	1	1	2	3	2	2	4	2	4	3	4	2	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:208795678C>A	ENST00000457206.1	-	5	2285	c.1858G>T	c.(1858-1860)Gca>Tca	p.A620S	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A620S|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.A620S			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	620					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCACCGCTGCCCGGCAGCTG	0.617													28	98					1.17739e-12	1.74225e-12	1	0	A	208795678	C	A	208795678	3	1	112	1	0	0	0	0	1	0	0	0	12154	739	26	4	443	4	PLEKHM3	2	208795678	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	5895486	208795678	34403695	66	21264											
BARD1	580	broad.mit.edu	37	chr2	215646211	215646211	+	Frame_Shift_Del	DEL	C	C	-																															gcatcattaaacaaacttttCctaggtttatcttctttcaa																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:215646211delC	ENST00000260947.4	-	4	521	c.387delG	c.(385-387)agfs	p.R129fs	BARD1_ENST00000449967.2_5'UTR|BARD1_ENST00000471787.1_5'UTR	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	129					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAAACTTTTCCTAGGTTTAT	0.328									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				10	18	---	---	---	---					-	215646211	C	-	215646211	7	5	112	1	0	1	0	1	0	0	0	0	1316	854	30	0	1978	0	BARD1	2	215646211	Frame_Shift_Del	DEL	C	TCGA-CN-A497-01A-11D-A24D-08	6850533	215646211	27553162	67	21265											
ABCA12	26154	broad.mit.edu	37	chr2	215919377	215919377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatccaggttggatgactttCtcagaatctcactagagaag	12	12	9	8	0	2	3	2	1	2	2	5	5	3	4	1	2	0	1	1	2	4	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:215919377C>T	ENST00000272895.7	-	4	548	c.329G>A	c.(328-330)aGa>aAa	p.R110K		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	110					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGATGACTTTCTCAGAATCTC	0.403													14	34					0	0	0	0	T	215919377	C	T	215919377	3	4	112	1	0	0	0	0	1	0	0	0	30	913	32	2	7689	2	ABCA12	2	215919377	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	273166	215919377	27279996	68	21266											
SPEG	10290	broad.mit.edu	37	chr2	220333617	220333617	+	Missense_Mutation	SNP	G	G	T																															gagtgagaacttgcggctgcGgcaggacgggggtctgcact																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:220333617G>T	ENST00000312358.7	+	12	3470	c.3338G>T	c.(3337-3339)cGg>cTg	p.R1113L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1113	Ig-like 5.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TTGCGGCTGCGGCAGGACGGG	0.647													10	26					0.0581538	0.0597901	1	0	T	220333617	G	T	220333617	3	4	112	1	0	0	0	0	1	0	0	0	15126	1116	39	3	3396	3	SPEG	2	220333617	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	4414240	220333617	22865756	69	21267	176	2									
SPEG	10290	broad.mit.edu	37	chr2	220333618	220333618	+	Silent	SNP	G	G	T																															agtgagaacttgcggctgcgGcaggacgggggtctgcactc																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:220333618G>T	ENST00000312358.7	+	12	3471	c.3339G>T	c.(3337-3339)cgG>cgT	p.R1113R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1113	Ig-like 5.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGCGGCTGCGGCAGGACGGGG	0.642													10	26					0.0581538	0.0597901	1	0	T	220333618	G	T	220333618	2	4	112	1	0	0	0	0	0	0	0	1	15126	1190	42	4		4	SPEG	2	220333618	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1	220333618	22865755	70	21268	176	2									
CUL3	8452	broad.mit.edu	37	chr2	225342967	225342967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttctagatttcattatccGcactatagcagcttctatct	9	17	4	11	1	4	1	1	0	3	1	5	1	5	1	1	0	2	3	1	0	5	8			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:225342967G>A	ENST00000264414.4	-	15	2463	c.2125C>T	c.(2125-2127)Cgg>Tgg	p.R709W	CUL3_ENST00000344951.4_Missense_Mutation_p.R643W|CUL3_ENST00000409777.1_Missense_Mutation_p.R685W|CUL3_ENST00000409096.1_Missense_Mutation_p.R685W	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	709					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTCATTATCCGCACTATAGCA	0.408													17	15					0	0	0	0	A	225342967	G	A	225342967	3	1	112	1	0	0	0	0	1	0	0	0	4088	1086	38	1	189	1	CUL3	2	225342967	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	5009349	225342967	17856406	71	21269											
DNER	92737	broad.mit.edu	37	chr2	230456321	230456321	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgatcccatttcatttctAcaactttctgccctgttttc	6	19	3	13	0	3	1	1	1	2	0	5	1	4	1	2	0	3	1	2	0	2	7			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:230456321A>T	ENST00000341772.4	-	2	694	c.560T>A	c.(559-561)gTa>gAa	p.V187E		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	187					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTTCATTTCTACAACTTTCTG	0.468													12	19					0	0	0	0	T	230456321	A	T	230456321	3	4	112	1	0	0	0	0	1	0	0	0	4703	391	14	5	1701	5	DNER	2	230456321	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	5113354	230456321	12743052	72	21270											
TRIP12	9320	broad.mit.edu	37	chr2	230656690	230656690	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactaaactgccgtactgccTgatacacagtcatgttatac	12	12	6	11	1	1	1	1	1	0	0	1	1	1	1	2	0	7	2	2	0	7	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:230656690T>A	ENST00000283943.5	-	28	4260	c.4082A>T	c.(4081-4083)cAg>cTg	p.Q1361L	TRIP12_ENST00000389045.3_Missense_Mutation_p.Q1091L|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1409L	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1361					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CCGTACTGCCTGATACACAGT	0.418													22	44					0	0	0	0	A	230656690	T	A	230656690	3	1	112	1	0	0	0	0	1	0	0	0	16651	1580	55	5	1952	5	TRIP12	2	230656690	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	200369	230656690	12542683	73	21271											
SLC16A14	151473	broad.mit.edu	37	chr2	230914587	230914587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatcgcagtctggcggcacCcacaggtgttaatgaacaag	11	8	12	10	2	1	2	0	2	1	0	2	2	1	2	1	3	1	3	1	3	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:230914587C>T	ENST00000295190.4	-	3	751	c.293G>A	c.(292-294)gGg>gAg	p.G98E		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	98						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CTGGCGGCACCCACAGGTGTT	0.468													16	28					0	0	0	0	T	230914587	C	T	230914587	3	4	112	1	0	0	0	0	1	0	0	0	14495	623	22	4	1251	4	SLC16A14	2	230914587	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	257897	230914587	12284786	74	21272											
CNTN4	152330	broad.mit.edu	37	chr3	2942464	2942464	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatggaaggcctaagcctAcatacaagtggctaaaaaat	18	7	8	8	0	0	0	0	0	0	0	0	1	0	1	2	3	3	1	2	3	9	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:2942464A>C	ENST00000397461.1	+	10	1420	c.1036A>C	c.(1036-1038)Aca>Cca	p.T346P	CNTN4_ENST00000358480.3_Missense_Mutation_p.T127P|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000427331.1_Missense_Mutation_p.T346P|CNTN4_ENST00000397459.2_Missense_Mutation_p.T18P|CNTN4_ENST00000418658.1_Missense_Mutation_p.T346P|CNTN4_ENST00000448906.2_Missense_Mutation_p.T18P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	346	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCCTAAGCCTACATACAAGTG	0.373													16	15					0	0	0	0	C	2942464	A	C	2942464	3	2	112	1	0	0	0	0	1	0	0	0	3673	391	14	5	1066	5	CNTN4	3	2942464	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08		2942464	195079966	75	21273											
KCNH8	131096	broad.mit.edu	37	chr3	19575568	19575568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcacagcagaagtgaaaGataacaaagccataaatgta	21	5	8	7	0	0	3	0	1	0	2	0	3	0	3	1	0	4	3	1	0	8	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:19575568G>T	ENST00000328405.2	+	16	3567	c.3301G>T	c.(3301-3303)Gat>Tat	p.D1101Y		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1101						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGAAGTGAAAGATAACAAAGC	0.428													7	10					0.000274275	0.000309455	1	0	T	19575568	G	T	19575568	3	4	112	1	0	0	0	0	1	0	0	0	8091	942	33	2	3363	2	KCNH8	3	19575568	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	16633104	19575568	178446862	76	21274											
THRB	7068	broad.mit.edu	37	chr3	24193920	24193920	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacagcggtagtgatacccGgtggctttgtcaccacacac	10	9	10	12	2	1	1	1	1	0	0	1	1	1	1	2	3	3	2	2	3	3	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:24193920G>T	ENST00000396671.2	-	6	693	c.345C>A	c.(343-345)acC>acA	p.T115T	THRB_ENST00000416420.1_Silent_p.T115T|THRB_ENST00000356447.4_Silent_p.T115T|THRB_ENST00000280696.5_Silent_p.T130T	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	115					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGTGATACCCGGTGGCTTTGT	0.488													11	8					1.61879e-10	2.28168e-10	1	0	T	24193920	G	T	24193920	2	4	112	1	0	0	0	0	0	0	0	1	15969	1103	39	3		3	THRB	3	24193920	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	4618352	24193920	173828510	77	21275											
LRRC3B	116135	broad.mit.edu	37	chr3	26751267	26751267	+	Missense_Mutation	SNP	C	C	A																															tcattctgccagtatgtgtcCcaagggctgtctttgttctt																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:26751267C>A	ENST00000396641.2	+	2	696	c.104C>A	c.(103-105)cCc>cAc	p.P35H	LRRC3B_ENST00000456208.2_Missense_Mutation_p.P35H|LRRC3B_ENST00000417744.1_Missense_Mutation_p.P35H	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	35	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AGTATGTGTCCCAAGGGCTGT	0.438													16	22					1.52009e-12	2.23543e-12	1	0	A	26751267	C	A	26751267	3	1	112	1	0	0	0	0	1	0	0	0	9060	623	22	4	106	4	LRRC3B	3	26751267	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	2557347	26751267	171271163	78	21276	177	2									
LRRC3B	116135	broad.mit.edu	37	chr3	26751268	26751268	+	Silent	SNP	C	C	A																															cattctgccagtatgtgtccCaagggctgtctttgttcttc																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:26751268C>A	ENST00000396641.2	+	2	697	c.105C>A	c.(103-105)ccC>ccA	p.P35P	LRRC3B_ENST00000456208.2_Silent_p.P35P|LRRC3B_ENST00000417744.1_Silent_p.P35P	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	35	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GTATGTGTCCCAAGGGCTGTC	0.443													17	22					8.60227e-14	1.3013e-13	1	0	A	26751268	C	A	26751268	2	1	112	1	0	0	0	0	0	0	0	1	9060	581	21	4		4	LRRC3B	3	26751268	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	1	26751268	171271162	79	21277	177	2									
PTPN23	25930	broad.mit.edu	37	chr3	47451444	47451444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaagccgccgccacGgcccacagccccaaagccgc	12	0	11	18	4	0	2	0	0	0	2	0	3	0	2	7	1	3	0	7	1	4	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:47451444G>T	ENST00000265562.4	+	20	2233	c.2156G>T	c.(2155-2157)cGg>cTg	p.R719L	PTPN23_ENST00000431726.1_Missense_Mutation_p.R593L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	719	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGCCGCCACGGCCCACAGCC	0.677													4	7					0.00024832	0.000282859	1	0	T	47451444	G	T	47451444	3	4	112	1	0	0	0	0	1	0	0	0	12870	1116	39	3	2234	3	PTPN23	3	47451444	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	20700176	47451444	150570986	80	21278											
MAGI1	9223	broad.mit.edu	37	chr3	65422830	65422830	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagaaagacaagtactttacCctgaagtggaacttctctgg	13	11	9	8	0	1	3	0	1	1	2	2	4	1	4	1	2	3	1	1	2	7	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:65422830C>A	ENST00000330909.8	-	10	1362	c.1363_splice	c.e10+1	p.G455_splice	MAGI1_ENST00000483466.1_Splice_Site_p.G455_splice|MAGI1_ENST00000497477.2_Splice_Site_p.G455_splice|MAGI1_ENST00000402939.2_Splice_Site_p.G455_splice|MAGI1_ENST00000470990.1_5'UTR	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	455					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AGTACTTTACCCTGAAGTGGA	0.398													14	18					1.52009e-12	2.23543e-12	1	0	A	65422830	C	A	65422830	5	1	112	1	0	0	0	0	0	0	1	0	9259	637	22	4	3315	4	MAGI1	3	65422830	Splice_Site	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	17971386	65422830	132599600	81	21279											
PDZRN3	23024	broad.mit.edu	37	chr3	73433317	73433317	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggaggctggcccgtaGgcttccgtggtccccacagc	4	10	13	14	2	1	0	0	0	1	0	3	1	3	1	4	5	1	3	4	5	1	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:73433317G>T	ENST00000263666.4	-	10	2514	c.2400C>A	c.(2398-2400)gcC>gcA	p.A800A	PDZRN3_ENST00000462146.2_Silent_p.A457A|PDZRN3_ENST00000535920.1_Silent_p.A522A|PDZRN3_ENST00000466780.1_Silent_p.A457A|PDZRN3_ENST00000479530.1_Silent_p.A517A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	800							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGGCCCGTAGGCTTCCGTGG	0.652													19	20					1.87028e-06	2.32561e-06	1	0	T	73433317	G	T	73433317	2	4	112	1	0	0	0	0	0	0	0	1	11780	987	35	4		4	PDZRN3	3	73433317	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	8010487	73433317	124589113	82	21280											
CNTN3	5067	broad.mit.edu	37	chr3	74350822	74350822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacggtttgccaacccaCggagaaaggtgtccgagcct	9	8	13	11	3	0	2	0	1	0	1	1	4	1	2	4	3	3	1	4	3	2	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:74350822C>A	ENST00000263665.6	-	14	1948	c.1921G>T	c.(1921-1923)Gtg>Ttg	p.V641L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	641	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V641L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGCCAACCCACGGAGAAAGGT	0.448													11	20					1.58986e-06	1.98733e-06	1	0	A	74350822	C	A	74350822	3	1	112	1	0	0	0	0	1	0	0	0	3672	536	19	3	1201	3	CNTN3	3	74350822	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	917505	74350822	123671608	83	21281											
EPHA6	285220	broad.mit.edu	37	chr3	96945243	96945243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccgagctgaaaaagaccCaccttctatggcatgtacca	12	10	7	12	1	1	2	0	1	1	1	2	3	2	2	4	1	2	3	4	1	4	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:96945243C>G	ENST00000389672.5	+	4	1288	c.1250C>G	c.(1249-1251)cCa>cGa	p.P417R	EPHA6_ENST00000470610.2_Missense_Mutation_p.P417R	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	322	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.P323Q(2)|p.P417Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAAAAAGACCCACCTTCTATG	0.348													15	51					0	0	0	0	G	96945243	C	G	96945243	3	3	112	1	0	0	0	0	1	0	0	0	5209	594	21	4	1264	4	EPHA6	3	96945243	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	22594421	96945243	101077187	84	21282											
GPR15	2838	broad.mit.edu	37	chr3	98251319	98251319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaattcagaaggacaGactgtgcatatgtagtctgt	13	10	11	7	0	2	2	1	0	1	2	2	4	2	4	1	2	1	2	1	2	4	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:98251319G>T	ENST00000284311.3	+	1	577	c.442G>T	c.(442-444)Gac>Tac	p.D148Y		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	148						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGAAGGACAGACTGTGCATA	0.522													7	31					2.0095e-06	2.4922e-06	1	0	T	98251319	G	T	98251319	3	4	112	1	0	0	0	0	1	0	0	0	6704	942	33	2	444	2	GPR15	3	98251319	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1306076	98251319	99771111	85	21283											
DPPA4	55211	broad.mit.edu	37	chr3	109049600	109049600	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtttcccccttttccacCtttaattttttttgcaatga	7	19	4	11	1	0	1	0	1	0	0	2	2	2	1	4	0	1	2	4	0	2	9			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:109049600C>T	ENST00000335658.6	-	5	504	c.450G>A	c.(448-450)aaG>aaA	p.K150K	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	150						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCTTTTCCACCTTTAATTTTT	0.428													8	40					0	0	0	0	T	109049600	C	T	109049600	2	4	112	1	0	0	0	0	0	0	0	1	4772	680	24	4		4	DPPA4	3	109049600	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	10798281	109049600	88972830	86	21284											
BOC	91653	broad.mit.edu	37	chr3	112996988	112996988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaccatctctggcattccagCcaaccagcaccgcctgaccc	9	6	7	19	1	1	1	0	1	1	0	3	2	2	1	7	1	3	2	7	1	1	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:112996988C>T	ENST00000495514.1	+	10	2290	c.1586C>T	c.(1585-1587)gCc>gTc	p.A529V	BOC_ENST00000273395.4_Missense_Mutation_p.A530V|BOC_ENST00000355385.3_Missense_Mutation_p.A529V|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	529	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGCATTCCAGCCAACCAGCAC	0.572													52	142					0	0	0	0	T	112996988	C	T	112996988	3	4	112	1	0	0	0	0	1	0	0	0	1486	739	26	4	1616	4	BOC	3	112996988	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	3947388	112996988	85025442	87	21285											
ADCY5	111	broad.mit.edu	37	chr3	123166426	123166426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccctcagaggcgctgcGtggctgcggcagcagcaggc	6	5	17	13	3	1	1	1	0	0	1	1	2	1	1	1	4	5	5	1	4	0	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:123166426G>A	ENST00000462833.1	-	1	2179	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	323					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GAGGCGCTGCGTGGCTGCGGC	0.687													9	35					0	0	0	0	A	123166426	G	A	123166426	3	1	112	1	0	0	0	0	1	0	0	0	297	1145	40	1	2902	1	ADCY5	3	123166426	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	10169438	123166426	74856004	88	21286											
UROC1	131669	broad.mit.edu	37	chr3	126219696	126219696	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcactcccccgtcgtgtcCaattcgtggaccaggcgctc	7	8	10	16	4	0	0	0	0	0	0	5	1	2	1	4	2	1	2	4	2	2	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:126219696C>T	ENST00000290868.2	-	11	1040	c.987G>A	c.(985-987)ttG>ttA	p.L329L	UROC1_ENST00000383579.3_Silent_p.L389L	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	329					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCGTCGTGTCCAATTCGTGGA	0.642													19	30					0	0	0	0	T	126219696	C	T	126219696	2	4	112	1	0	0	0	0	0	0	0	1	17124	593	21	4		4	UROC1	3	126219696	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	3053270	126219696	71802734	89	21287											
PLXNA1	5361	broad.mit.edu	37	chr3	126708551	126708551	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaggagaagattaaggagcGcatccagtcctgctaccgtg	12	7	12	10	2	0	2	0	0	0	2	2	4	2	3	3	2	3	2	3	2	4	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:126708551G>C	ENST00000251772.4	+	1	1115	c.1046G>C	c.(1045-1047)cGc>cCc	p.R349P	PLXNA1_ENST00000393409.2_Missense_Mutation_p.R372P			Q9UIW2	PLXA1_HUMAN	plexin A1	372	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ATTAAGGAGCGCATCCAGTCC	0.612													29	110					0	0	0	0	C	126708551	G	C	126708551	3	2	112	1	0	0	0	0	1	0	0	0	12191	1087	38	3	1117	3	PLXNA1	3	126708551	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	488855	126708551	71313879	90	21288											
TMCC1	23023	broad.mit.edu	37	chr3	129370518	129370518	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagccaggaggatgttgaTgagtttgcccagaaggttcc	10	9	14	8	0	0	3	0	2	0	1	1	6	1	5	3	3	2	3	3	3	1	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:129370518T>C	ENST00000393238.3	-	6	2108	c.1768A>G	c.(1768-1770)Atc>Gtc	p.I590V	TMCC1_ENST00000426664.2_Missense_Mutation_p.I476V|TMCC1_ENST00000432054.2_Missense_Mutation_p.I266V|TMCC1_ENST00000329333.5_Missense_Mutation_p.I411V	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	590						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGGATGTTGATGAGTTTGCCC	0.567													25	68					0	0	0	0	C	129370518	T	C	129370518	3	2	112	1	0	0	0	0	1	0	0	0	16086	1464	51	5	197	5	TMCC1	3	129370518	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	2661967	129370518	68651912	91	21289											
CLSTN2	64084	broad.mit.edu	37	chr3	140178487	140178487	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaggcagggtgccaaagtCcccgatgggattgtgcccaa	9	6	15	11	1	0	0	0	0	0	0	1	2	1	1	4	4	2	2	4	4	2	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:140178487C>A	ENST00000458420.3	+	7	1288	c.1098C>A	c.(1096-1098)gtC>gtA	p.V366V	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	366			V -> I (in dbSNP:rs7632885).		homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTGCCAAAGTCCCCGATGGGA	0.572										HNSCC(16;0.037)			7	51					0.0381472	0.0393912	1	0	A	140178487	C	A	140178487	2	1	112	1	0	0	0	0	0	0	0	1	3592	842	30	2		2	CLSTN2	3	140178487	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	10807969	140178487	57843943	92	21290											
PLSCR4	57088	broad.mit.edu	37	chr3	145912998	145912998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatggtcagcatctgcCattgctgataacaaaccatt	14	11	6	10	0	3	1	2	1	1	0	3	1	3	1	2	1	5	2	2	1	4	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:145912998C>A	ENST00000354952.2	-	8	1098	c.858G>T	c.(856-858)atG>atT	p.M286I	PLSCR4_ENST00000446574.2_Missense_Mutation_p.M286I|PLSCR4_ENST00000493382.1_Missense_Mutation_p.M286I|PLSCR4_ENST00000433593.2_Missense_Mutation_p.M181I|PLSCR4_ENST00000383083.2_Missense_Mutation_p.M196I	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	286					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CAGCATCTGCCATTGCTGATA	0.423													17	44					3.45872e-05	4.08679e-05	1	0	A	145912998	C	A	145912998	3	1	112	1	0	0	0	0	1	0	0	0	12184	594	21	4	139	4	PLSCR4	3	145912998	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	5734511	145912998	52109432	93	21291											
SLITRK3	22865	broad.mit.edu	37	chr3	164907558	164907558	+	Frame_Shift_Del	DEL	C	C	-																															caatgggaggctggtttggaCcaggatataaagcttgggag																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:164907558delC	ENST00000475390.1	-	2	1504	c.1061delG	c.(1060-1062)gtfs	p.G354fs	SLITRK3_ENST00000241274.3_Frame_Shift_Del_p.G354fs			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	354						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTGGTTTGGACCAGGATATAA	0.502										HNSCC(40;0.11)			50	181	---	---	---	---					-	164907558	C	-	164907558	7	5	112	1	0	1	0	1	0	0	0	0	14832	507	18	0	1876	0	SLITRK3	3	164907558	Frame_Shift_Del	DEL	C	TCGA-CN-A497-01A-11D-A24D-08	18994560	164907558	33114872	94	21292											
SERPINI2	5276	broad.mit.edu	37	chr3	167183177	167183177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtagttcagggaagattcaGaaaaataacctggaatagac	17	8	11	5	0	2	3	2	0	0	3	2	5	2	5	1	3	1	2	1	3	7	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:167183177G>C	ENST00000476257.1	-	6	981	c.683C>G	c.(682-684)tCt>tGt	p.S228C	SERPINI2_ENST00000264677.4_Missense_Mutation_p.S228C|SERPINI2_ENST00000471111.1_Missense_Mutation_p.S228C|SERPINI2_ENST00000461846.1_Missense_Mutation_p.S228C			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	228					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GGAAGATTCAGAAAAATAACC	0.313													12	23					0	0	0	0	C	167183177	G	C	167183177	3	2	112	1	0	0	0	0	1	0	0	0	14206	942	33	2	554	2	SERPINI2	3	167183177	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	2275619	167183177	30839253	95	21293											
SLC2A2	6514	broad.mit.edu	37	chr3	170727800	170727800	+	Frame_Shift_Del	DEL	C	C	-																															ttataagtatatgagatggtCccaattttgaaaaccccatc																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:170727800delC	ENST00000314251.3	-	4	522	c.443delG	c.(442-444)gafs	p.G148fs	SLC2A2_ENST00000382808.4_Frame_Shift_Del_p.G29fs	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	148					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ATGAGATGGTCCCAATTTTGA	0.373													16	14	---	---	---	---					-	170727800	C	-	170727800	7	5	112	1	0	1	0	1	0	0	0	0	14632	855	30	0	1163	0	SLC2A2	3	170727800	Frame_Shift_Del	DEL	C	TCGA-CN-A497-01A-11D-A24D-08	3544623	170727800	27294630	96	21294											
SPATA16	83893	broad.mit.edu	37	chr3	172642049	172642049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attggcaagattcgcttcccCattgtctccatttgcctcac	7	14	6	14	1	2	1	1	0	1	1	5	1	3	1	4	1	1	2	4	1	1	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:172642049C>T	ENST00000351008.3	-	8	1470	c.1287G>A	c.(1285-1287)atG>atA	p.M429I		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	429					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTCGCTTCCCCATTGTCTCCA	0.333													7	48					0	0	0	0	T	172642049	C	T	172642049	3	4	112	1	0	0	0	0	1	0	0	0	15091	594	21	4	438	4	SPATA16	3	172642049	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	1914249	172642049	25380381	97	21295											
SPATA16	83893	broad.mit.edu	37	chr3	172766826	172766826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgaaacttgccacgcttGctatatcttcagcaggtgca	11	11	8	11	1	2	1	1	1	1	0	2	1	2	1	1	1	5	4	1	1	4	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:172766826G>A	ENST00000351008.3	-	3	854	c.671C>T	c.(670-672)gCa>gTa	p.A224V		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	224					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGCCACGCTTGCTATATCTTC	0.383													9	20					0	0	0	0	A	172766826	G	A	172766826	3	1	112	1	0	0	0	0	1	0	0	0	15091	1319	46	4	1074	4	SPATA16	3	172766826	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	124777	172766826	25255604	98	21296											
NAALADL2	254827	broad.mit.edu	37	chr3	175520961	175520961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaagcaggacttgatgtGttcaagagtgtcttggatgg	10	13	13	5	0	3	2	2	1	1	1	3	4	3	4	0	3	1	2	0	3	2	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:175520961G>A	ENST00000454872.1	+	14	2486	c.2358G>A	c.(2356-2358)gtG>gtA	p.V786V		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	786					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GACTTGATGTGTTCAAGAGTG	0.388													3	12					0	0	0	0	A	175520961	G	A	175520961	2	1	112	1	0	0	0	0	0	0	0	1	10200	1364	48	4		4	NAALADL2	3	175520961	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	2754135	175520961	22501469	99	21297											
ATP13A4	84239	broad.mit.edu	37	chr3	193171956	193171956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagtgctatgactcggaagCcctgtgtcgtgtaaatctga	9	11	11	10	2	1	2	0	2	1	0	3	3	1	3	2	1	2	2	2	1	4	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:193171956C>A	ENST00000342695.4	-	17	2283	c.1961G>T	c.(1960-1962)gGc>gTc	p.G654V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G635V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	654					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GACTCGGAAGCCCTGTGTCGT	0.438													17	13					1.28384e-07	1.65713e-07	1	0	A	193171956	C	A	193171956	3	1	112	1	0	0	0	0	1	0	0	0	1130	739	26	4	1685	4	ATP13A4	3	193171956	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	17650995	193171956	4850474	100	21298											
ATP13A4	84239	broad.mit.edu	37	chr3	193185178	193185178	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacctctgttccacagaaGaggacatgccgcttgtaatc	12	10	8	11	1	1	2	0	0	1	2	3	3	2	3	3	1	2	3	3	1	3	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:193185178G>T	ENST00000342695.4	-	10	1363	c.1041C>A	c.(1039-1041)ctC>ctA	p.L347L	ATP13A4_ENST00000392443.3_Silent_p.L347L|ATP13A4_ENST00000295548.3_Silent_p.L347L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	347					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTCCACAGAAGAGGACATGCC	0.502													24	37					5.35356e-11	7.63646e-11	1	0	T	193185178	G	T	193185178	2	4	112	1	0	0	0	0	0	0	0	1	1130	929	33	2		2	ATP13A4	3	193185178	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	13222	193185178	4837252	101	21299											
MUC4	4585	broad.mit.edu	37	chr3	195516522	195516522	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgattcttgtgtggtctgCggggcttgagtgtgacccct	3	15	15	8	1	2	3	0	3	2	0	2	3	2	3	2	3	1	1	2	3	0	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:195516522C>A	ENST00000463781.3	-	2	2388	c.1929G>T	c.(1927-1929)ccG>ccT	p.P643P	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.P643P	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	648					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTGGTCTGCGGGGCTTGAG	0.522													30	124					6.38683e-12	9.30597e-12	1	0	A	195516522	C	A	195516522	2	1	112	1	0	0	0	0	0	0	0	1	10048	755	27	3		3	MUC4	3	195516522	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	2331344	195516522	2505908	102	21300											
TLR10	81793	broad.mit.edu	37	chr4	38776141	38776141	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactcgtctgttaagatattAttggcaaaatttaaatattg	15	16	6	4	1	1	1	0	0	1	1	2	1	1	1	0	1	1	2	0	1	9	8			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:38776141A>G	ENST00000308973.4	-	4	1676	c.1071T>C	c.(1069-1071)aaT>aaC	p.N357N	TLR10_ENST00000506111.1_Silent_p.N357N|TLR10_ENST00000508334.1_Silent_p.N357N|TLR10_ENST00000361424.2_Silent_p.N357N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	357					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTAAGATATTATTGGCAAAAT	0.333													21	15					0	0	0	0	G	38776141	A	G	38776141	2	3	112	1	0	0	0	0	0	0	0	1	16044	446	16	5		5	TLR10	4	38776141	Silent	SNP	A	TCGA-CN-A497-01A-11D-A24D-08		38776141	152378135	103	21301											
FRYL	285527	broad.mit.edu	37	chr4	48584666	48584666	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatcctgaaagaacatcctCccgccaatctggaaaatcaa	17	7	5	12	1	2	2	1	1	1	1	5	3	5	3	4	1	1	0	4	1	7	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:48584666C>A	ENST00000537810.1	-	20	2438	c.1834G>T	c.(1834-1836)Gag>Tag	p.E612*	FRYL_ENST00000507711.1_Nonsense_Mutation_p.E612*|FRYL_ENST00000506685.1_Nonsense_Mutation_p.E318*|FRYL_ENST00000503238.1_Nonsense_Mutation_p.E612*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.E612*|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGAACATCCTCCCGCCAATCT	0.398													10	15					0.000442599	0.00049467	1	0	A	48584666	C	A	48584666	4	1	112	1	0	0	0	0	0	1	0	0	6112	864	30	2	7387	2	FRYL	4	48584666	Nonsense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	9808525	48584666	142569610	104	21302											
KIT	3815	broad.mit.edu	37	chr4	55561859	55561859	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataagcagaatgaatggatCacggaaaaggcagaagccac	19	4	11	7	1	1	3	1	1	0	2	1	5	1	5	1	3	2	2	1	3	7	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:55561859C>G	ENST00000288135.5	+	2	346	c.249C>G	c.(247-249)atC>atG	p.I83M		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	83	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGAATGGATCACGGAAAAGG	0.448		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				11	10					0	0	0	0	G	55561859	C	G	55561859	3	3	112	1	0	0	0	0	1	0	0	0	8381	816	29	2	255	2	KIT	4	55561859	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	6977193	55561859	135592417	105	21303											
EPHA5	2044	broad.mit.edu	37	chr4	66535349	66535349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggcacgtccagaggggagCccgtcgaggtgcagagtagc	10	4	17	10	3	0	2	0	0	0	2	2	4	1	3	2	4	3	3	2	4	2	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:66535349C>A	ENST00000273854.3	-	1	712	c.112G>T	c.(112-114)Gct>Tct	p.A38S	EPHA5_ENST00000511294.1_Missense_Mutation_p.A38S|EPHA5_ENST00000432638.2_Missense_Mutation_p.A38S|EPHA5_ENST00000354839.4_Missense_Mutation_p.A38S	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	38					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CAGAGGGGAGCCCGTCGAGGT	0.751										TSP Lung(17;0.13)			7	13					5.18039e-06	6.29331e-06	1	0	A	66535349	C	A	66535349	3	1	112	1	0	0	0	0	1	0	0	0	5208	739	26	4	3073	4	EPHA5	4	66535349	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	10973490	66535349	124618927	106	21304											
C4orf26	152816	broad.mit.edu	37	chr4	76489591	76489591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggccacaccgttaccttaCttataggtatttccccagaa	10	13	6	12	1	0	1	0	0	0	1	1	1	1	1	5	2	2	2	5	2	6	7			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:76489591C>A	ENST00000311623.4	+	2	370	c.335C>A	c.(334-336)aCt>aAt	p.T112N	C4orf26_ENST00000435974.2_Missense_Mutation_p.L127I	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	112						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CGTTACCTTACTTATAGGTAT	0.443													36	37					7.63091e-17	1.18454e-16	1	0	A	76489591	C	A	76489591	3	1	112	1	0	0	0	0	1	0	0	0	2278	565	20	4	341	4	C4orf26	4	76489591	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	9954242	76489591	114664685	107	21305											
TBCK	93627	broad.mit.edu	37	chr4	107157660	107157660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcattattgctgtttgaatGaggtaaattagactggctgt	10	16	10	5	0	1	3	1	2	0	1	1	3	1	3	0	2	1	4	0	2	5	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:107157660G>A	ENST00000273980.4	-	15	1684	c.1237C>T	c.(1237-1239)Cat>Tat	p.H413Y	TBCK_ENST00000361687.4_Missense_Mutation_p.H350Y|TBCK_ENST00000432496.2_Missense_Mutation_p.H413Y|TBCK_ENST00000394706.3_Missense_Mutation_p.H374Y|TBCK_ENST00000394708.2_Missense_Mutation_p.H413Y			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	413						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CTGTTTGAATGAGGTAAATTA	0.338													5	4					0	0	0	0	A	107157660	G	A	107157660	3	1	112	1	0	0	0	0	1	0	0	0	15730	1290	45	2	1496	2	TBCK	4	107157660	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	30668069	107157660	83996616	108	21306											
NDST3	9348	broad.mit.edu	37	chr4	119026256	119026256	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcagggaaattttaccaTacaggtaagaaaaagggatt	16	12	9	4	0	1	1	1	0	0	1	1	3	1	3	1	3	2	1	1	3	6	7			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:119026256T>C	ENST00000296499.5	+	3	1468	c.1065T>C	c.(1063-1065)caT>caC	p.H355H	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	355	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AATTTTACCATACAGGTAAGA	0.368													19	22					0	0	0	0	C	119026256	T	C	119026256	2	2	112	1	0	0	0	0	0	0	0	1	10327	1403	49	5		5	NDST3	4	119026256	Silent	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	11868596	119026256	72128020	109	21307											
NDST3	9348	broad.mit.edu	37	chr4	119154206	119154206	+	Frame_Shift_Del	DEL	C	C	-																															gttcctggttatgcatccttCcatccttagtaactccccca																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:119154206delC	ENST00000296499.5	+	9	2262	c.1859delC	c.(1858-1860)tcfs	p.S620fs	NDST3_ENST00000433996.2_Frame_Shift_Del_p.S539fs	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	620	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATGCATCCTTCCATCCTTAGT	0.373													8	25	---	---	---	---					-	119154206	C	-	119154206	7	5	112	1	0	1	0	1	0	0	0	0	10327	855	30	0	1889	0	NDST3	4	119154206	Frame_Shift_Del	DEL	C	TCGA-CN-A497-01A-11D-A24D-08	127950	119154206	72000070	110	21308											
TBC1D9	23158	broad.mit.edu	37	chr4	141543409	141543409	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaggggcttgcccatcatCcggatgttttttgcactggt	5	14	13	9	1	1	1	1	1	0	0	2	2	2	2	2	4	2	3	2	4	0	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:141543409C>A	ENST00000442267.2	-	21	3815	c.3741G>T	c.(3739-3741)cgG>cgT	p.R1247R		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1247						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGCCCATCATCCGGATGTTTT	0.597													23	24					6.44725e-10	9.00719e-10	1	0	A	141543409	C	A	141543409	2	1	112	1	0	0	0	0	0	0	0	1	15721	842	30	2		2	TBC1D9	4	141543409	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	22389203	141543409	49610867	111	21309											
PAPD7	11044	broad.mit.edu	37	chr5	6742601	6742601	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaaatgaaatctttacAggtaccaataataaagctca	18	13	4	6	0	2	1	1	1	1	0	2	1	2	1	1	1	3	2	1	1	9	7			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:6742601A>T	ENST00000230859.6	+	5	387		c.e5-1			NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7						cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAATCTTTACAGGTACCAATA	0.428													7	19					0	0	0	0	T	6742601	A	T	6742601	5	4	112	1	0	0	0	0	0	0	1	0	11497	202	7	5	271	5	PAPD7	5	6742601	Splice_Site	SNP	A	TCGA-CN-A497-01A-11D-A24D-08		6742601	174172659	112	21310											
CDH18	1016	broad.mit.edu	37	chr5	19473364	19473364	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagattctatttctcCatagagttcagctaactttt	9	19	4	9	0	5	2	2	0	3	2	6	2	5	2	1	0	2	2	1	0	3	9			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:19473364C>A	ENST00000507958.1	-	15	3334	c.2344G>T	c.(2344-2346)Gga>Tga	p.G782*	CDH18_ENST00000274170.4_Nonsense_Mutation_p.G782*|CDH18_ENST00000382275.1_Nonsense_Mutation_p.G782*|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	782					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)					TCTATTTCTCCATAGAGTTCA	0.438													11	32					3.86212e-05	4.51849e-05	1	0	A	19473364	C	A	19473364	4	1	112	1	0	0	0	0	0	1	0	0	3132	603	21	4	32	4	CDH18	5	19473364	Nonsense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	12730763	19473364	161441896	113	21311											
CDH18	1016	broad.mit.edu	37	chr5	19483503	19483503	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcatggcaggtccgcaCacgcccatctctctcgcatg	6	10	9	16	3	3	0	0	0	3	0	6	0	4	0	2	2	1	4	2	2	0	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:19483503C>A	ENST00000507958.1	-	14	2779	c.1789G>T	c.(1789-1791)Gtg>Ttg	p.V597L	CDH18_ENST00000274170.4_Missense_Mutation_p.V597L|CDH18_ENST00000382275.1_Missense_Mutation_p.V597L|CDH18_ENST00000502796.1_Silent_p.V560V|CDH18_ENST00000506372.1_Silent_p.V561V			Q13634	CAD18_HUMAN	cadherin 18, type 2	597	Cadherin 5.				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)					CAGGTCCGCACACGCCCATCT	0.527													4	17					0.00909568	0.00966543	1	0	A	19483503	C	A	19483503	3	1	112	1	0	0	0	0	1	0	0	0	3132	478	17	4	591	4	CDH18	5	19483503	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	10139	19483503	161431757	114	21312											
CDH10	1008	broad.mit.edu	37	chr5	24487835	24487835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcttattaaaccgagggccCcattctcggaggtaatcgta	11	10	10	10	3	1	0	0	0	1	0	3	2	1	1	3	3	2	3	3	3	5	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:24487835C>A	ENST00000264463.4	-	12	2811	c.2304G>T	c.(2302-2304)tgG>tgT	p.W768C	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	768					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACCGAGGGCCCCATTCTCGGA	0.408										HNSCC(23;0.051)			33	63					2.2171e-23	3.59428e-23	1	0	A	24487835	C	A	24487835	3	1	112	1	0	0	0	0	1	0	0	0	3125	624	22	4	66	4	CDH10	5	24487835	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	5004332	24487835	156427425	115	21313											
CDH10	1008	broad.mit.edu	37	chr5	24492992	24492992	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaaaatttctgtccacCtaaagggtcatctttgtcta	14	13	6	8	0	4	0	1	0	3	0	5	1	5	0	2	1	0	0	2	1	7	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:24492992C>A	ENST00000264463.4	-	10	2065	c.1558G>T	c.(1558-1560)Ggt>Tgt	p.G520C	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	520	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G520S(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTCTGTCCACCTAAAGGGTCA	0.328										HNSCC(23;0.051)			11	34					1.5842e-08	2.09609e-08	1	0	A	24492992	C	A	24492992	3	1	112	1	0	0	0	0	1	0	0	0	3125	681	24	4	820	4	CDH10	5	24492992	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	5157	24492992	156422268	116	21314											
C1QTNF3	114899	broad.mit.edu	37	chr5	34033498	34033498	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccccaggtcacctttgtCgcccttctcacctttggctc	4	12	8	17	1	2	0	2	0	1	0	5	0	2	0	5	3	0	1	5	3	0	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:34033498C>A	ENST00000382065.3	-	3	1187	c.481G>T	c.(481-483)Gac>Tac	p.D161Y	C1QTNF3_ENST00000231338.7_Missense_Mutation_p.D88Y	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	88	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					TCACCTTTGTCGCCCTTCTCA	0.547													27	49					7.41945e-09	9.92743e-09	1	0	A	34033498	C	A	34033498	3	1	112	1	0	0	0	0	1	0	0	0	1983	884	31	3	494	3	C1QTNF3	5	34033498	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	9540506	34033498	146881762	117	21315											
IPO11	51194	broad.mit.edu	37	chr5	61846284	61846284	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaagggtattatagaaGgggaggtaagatttttcttt	11	17	11	2	0	2	2	1	0	1	2	2	3	2	3	0	4	0	2	0	4	6	9			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:61846284G>C	ENST00000325324.6	+	25	2510	c.2341G>C	c.(2341-2343)Ggg>Cgg	p.G781R	IPO11_ENST00000409296.3_Missense_Mutation_p.G821R	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	781						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TATTATAGAAGGGGAGGTAAG	0.348													7	13					0	0	0	0	C	61846284	G	C	61846284	3	2	112	1	0	0	0	0	1	0	0	0	7846	1000	35	4	2559	4	IPO11	5	61846284	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	27812786	61846284	119068976	118	21316											
BHMT2	23743	broad.mit.edu	37	chr5	78379197	78379197	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctcccagaatatccctttGgtaagctcaggtgcatagta	11	12	8	10	0	2	1	1	0	1	1	4	1	3	1	2	2	2	4	2	2	5	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:78379197G>C	ENST00000255192.3	+	6	847	c.781_splice	c.e6+1	p.G261_splice	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Splice_Site_p.G197_splice	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	261	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	ATATCCCTTTGGTAAGCTCAG	0.488													9	17					0	0	0	0	C	78379197	G	C	78379197	5	2	112	1	0	0	0	0	0	0	1	0	1431	1362	47	4	803	4	BHMT2	5	78379197	Splice_Site	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	16532913	78379197	102536063	119	21317											
GPR98	84059	broad.mit.edu	37	chr5	90106414	90106414	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttaattggagcccacgcCtgaatctagatttcagtgtt	10	14	9	8	1	2	2	1	1	1	1	2	3	2	3	2	1	1	2	2	1	3	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:90106414C>G	ENST00000405460.2	+	74	15433	c.15337C>G	c.(15337-15339)Ctg>Gtg	p.L5113V	GPR98_ENST00000425867.2_Missense_Mutation_p.L774V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5113					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGCCCACGCCTGAATCTAGA	0.378													15	46					0	0	0	0	G	90106414	C	G	90106414	3	3	112	1	0	0	0	0	1	0	0	0	6771	680	24	4	15631	4	GPR98	5	90106414	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	11727217	90106414	90808846	120	21318											
KCNN2	3781	broad.mit.edu	37	chr5	113829140	113829140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagaggaaactgaatgacCaagcaaacactttggtggac	17	6	10	8	0	0	3	0	2	0	1	0	5	0	5	1	3	4	1	1	3	5	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:113829140C>A	ENST00000512097.3	+	8	2441	c.1423C>A	c.(1423-1425)Caa>Aaa	p.Q475K	RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_Missense_Mutation_p.Q127K|KCNN2_ENST00000264773.3_Missense_Mutation_p.Q475K			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	475	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		ACTGAATGACCAAGCAAACAC	0.408													4	17					0.014758	0.0154747	1	0	A	113829140	C	A	113829140	3	1	112	1	0	0	0	0	1	0	0	0	8132	595	21	4	1449	4	KCNN2	5	113829140	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	23722726	113829140	67086120	121	21319											
SNCAIP	9627	broad.mit.edu	37	chr5	121759078	121759078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctttctcccgtgaaaagcCctcacttgagaaaagcatca	12	11	6	12	1	4	2	2	2	2	1	5	3	4	2	2	0	2	1	2	0	4	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:121759078C>T	ENST00000261367.7	+	6	2215	c.787C>T	c.(787-789)Cct>Tct	p.P263S	SNCAIP_ENST00000379533.2_Missense_Mutation_p.P263S|SNCAIP_ENST00000503116.2_Missense_Mutation_p.P263S|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P216S|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P216S|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	216					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CGTGAAAAGCCCTCACTTGAG	0.483													14	45					0	0	0	0	T	121759078	C	T	121759078	3	4	112	1	0	0	0	0	1	0	0	0	14929	623	22	4	656	4	SNCAIP	5	121759078	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	7929938	121759078	59156182	122	21320											
SNX24	28966	broad.mit.edu	37	chr5	122337708	122337708	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcagccagcggtaatcaaAcctgtcatctgctaacagct	11	9	8	13	1	3	0	2	0	1	0	3	0	3	0	2	1	7	4	2	1	3	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:122337708A>T	ENST00000513881.1	+	6	567	c.451A>T	c.(451-453)Acc>Tcc	p.T151S	SNX24_ENST00000506996.1_Missense_Mutation_p.T151S|SNX24_ENST00000395451.4_Intron|SNX24_ENST00000261369.4_Intron			Q9Y343	SNX24_HUMAN	sorting nexin 24	0					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		CGGTAATCAAACCTGTCATCT	0.488													15	33					0	0	0	0	T	122337708	A	T	122337708	3	4	112	1	0	0	0	0	1	0	0	0	14983	58	2	5		5	SNX24	5	122337708	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	578630	122337708	58577552	123	21321											
SLC12A2	6558	broad.mit.edu	37	chr5	127488461	127488461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactgcagcattcaattcGtctttctggagtggaagacc	9	12	10	10	1	3	1	1	0	2	1	4	3	3	3	1	2	3	3	1	2	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:127488461G>T	ENST00000262461.2	+	15	2516	c.2327G>T	c.(2326-2328)cGt>cTt	p.R776L	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R776L	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	776					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATTCAATTCGTCTTTCTGGA	0.413													13	17					7.03913e-09	9.47191e-09	1	0	T	127488461	G	T	127488461	3	4	112	1	0	0	0	0	1	0	0	0	14471	1145	40	3	2385	3	SLC12A2	5	127488461	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	5150753	127488461	53426799	124	21322											
PCDHA3	56145	broad.mit.edu	37	chr5	140182275	140182275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctactcgctggtggaacggcGggtgggggagcgcgcgctgt	4	7	20	10	6	0	0	0	0	0	0	1	2	0	2	0	6	3	2	0	6	2	1	rs145659233		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140182275G>T	ENST00000522353.2	+	1	1493	c.1493G>T	c.(1492-1494)cGg>cTg	p.R498L	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R498L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAACGGCGGGTGGGGGAG	0.682													81	113					7.31121e-38	1.20584e-37	1	0	T	140182275	G	T	140182275	3	4	112	1	0	0	0	0	1	0	0	0	11596	1116	39	3	1495	3	PCDHA3	5	140182275	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	12693814	140182275	40732985	125	21323											
PCDHA9	9752	broad.mit.edu	37	chr5	140229239	140229239	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaacgggcaggttaccTgctccctgacgccccacgtc	7	7	10	17	3	0	1	0	1	0	0	2	1	1	1	5	2	4	3	5	2	2	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140229239T>C	ENST00000378122.3	+	1	1883	c.1159T>C	c.(1159-1161)Tgc>Cgc	p.C387R	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.C387R|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTTACCTGCTCCCTGAC	0.562													48	85					0	0	0	0	C	140229239	T	C	140229239	3	2	112	1	0	0	0	0	1	0	0	0	11602	1580	55	5	1161	5	PCDHA9	5	140229239	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	46964	140229239	40686021	126	21324											
PCDHA10	56139	broad.mit.edu	37	chr5	140237560	140237560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgagactgactcgccaCgccagcgcctactggtgctg	7	8	13	13	3	0	2	0	2	0	1	1	4	0	3	3	2	3	1	3	2	1	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140237560C>T	ENST00000307360.5	+	1	1927	c.1927C>T	c.(1927-1929)Cgc>Tgc	p.R643C	PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCGCCACGCCAGCGCCT	0.657													18	45					0	0	0	0	T	140237560	C	T	140237560	3	4	112	1	0	0	0	0	1	0	0	0	11591	536	19	1	1929	1	PCDHA10	5	140237560	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	8321	140237560	40677700	127	21325											
PCDHB6	56130	broad.mit.edu	37	chr5	140530079	140530079	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtttgatccacagaccCatgatttactgctaaatgaa	13	12	7	9	0	0	4	0	3	0	1	1	4	1	4	2	0	3	3	2	0	4	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140530079C>A	ENST00000543635.1	+	0	192				PCDHB6_ENST00000231136.1_Missense_Mutation_p.H81N			Q9Y5E3	PCDB6_HUMAN							calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCACAGACCCATGATTTACT	0.532													30	46					5.60225e-13	8.34191e-13	1	0	A	140530079	C	A	140530079	1	1	112	1	0	0	0	0	0	0	0	0	11617	594	21	4		4	PCDHB6	5	140530079	Translation_Start_Site	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	292519	140530079	40385181	128	21326											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725274	140725274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggaccagaacgacaaCgcgcccgagatcctgtaccc	10	5	11	15	4	0	2	0	0	0	2	1	5	1	3	4	1	4	2	4	1	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140725274C>T	ENST00000253812.6	+	1	1674	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCCGAGA	0.632													54	161					0	0	0	0	T	140725274	C	T	140725274	2	4	112	1	0	0	0	0	0	0	0	1	11626	535	19	1		1	PCDHGA3	5	140725274	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	195195	140725274	40189986	129	21327											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730750	140730750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattggattttgaagagaCaagtagatatgtgttgagtg	13	13	12	3	0	0	4	0	2	0	2	0	6	0	5	0	1	0	2	0	1	4	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140730750C>A	ENST00000523390.1	+	1	923	c.923C>A	c.(922-924)aCa>aAa	p.T308K	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGAAGAGACAAGTAGATAT	0.423													16	41					2.32078e-09	3.16774e-09	1	0	A	140730750	C	A	140730750	3	1	112	1	0	0	0	0	1	0	0	0	11633	478	17	4	925	4	PCDHGB1	5	140730750	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	5476	140730750	40184510	130	21328											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754224	140754224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcccatgggcccaagtacCcggagctggtgctggagggc	8	5	16	12	1	0	0	0	0	0	0	0	2	0	2	3	5	4	3	3	5	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140754224C>A	ENST00000517434.1	+	1	574	c.574C>A	c.(574-576)Ccg>Acg	p.P192T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAAGTACCCGGAGCTGGT	0.582													6	10					0.0215528	0.0224017	1	0	A	140754224	C	A	140754224	3	1	112	1	0	0	0	0	1	0	0	0	11629	623	22	4	576	4	PCDHGA6	5	140754224	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	23474	140754224	40161036	131	21329											
POU4F3	5459	broad.mit.edu	37	chr5	145719877	145719877	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcctatttcgctatccAgccacgtccttcatctgaga	8	11	8	14	3	2	1	1	1	1	1	5	3	4	1	4	1	1	1	4	1	2	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:145719877A>G	ENST00000230732.4	+	2	976	c.887A>G	c.(886-888)cAg>cGg	p.Q296R	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	296					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGCTATCCAGCCACGTCCT	0.552													13	35					0	0	0	0	G	145719877	A	G	145719877	3	3	112	1	0	0	0	0	1	0	0	0	12351	188	7	5	893	5	POU4F3	5	145719877	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	4965653	145719877	35195383	132	21330											
FAM71B	153745	broad.mit.edu	37	chr5	156590334	156590334	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttttgatagctgctccCgccagcgctgtggtcacttg	5	13	12	11	2	1	1	1	1	0	0	2	2	2	2	2	2	3	3	2	2	1	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:156590334C>A	ENST00000302938.4	-	2	1037	c.942G>T	c.(940-942)gcG>gcT	p.A314A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	314	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGCTGCTCCCGCCAGCGCTG	0.527													22	71					1.10513e-12	1.64043e-12	1	0	A	156590334	C	A	156590334	2	1	112	1	0	0	0	0	0	0	0	1	5654	639	23	3		3	FAM71B	5	156590334	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	10870457	156590334	24324926	133	21331											
DOCK2	1794	broad.mit.edu	37	chr5	169135205	169135205	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagcaggggacaagccCatgaatgagtatcgctccgt	10	7	15	9	2	0	2	0	2	0	0	2	4	1	4	2	3	2	3	2	3	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:169135205C>A	ENST00000520908.1	+	0	160				DOCK2_ENST00000256935.8_Silent_p.P472P|DOCK2_ENST00000540750.1_De_novo_Start_OutOfFrame			Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2						actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGACAAGCCCATGAATGAGT	0.423													6	10					0.00198382	0.00217123	1	0	A	169135205	C	A	169135205	1	1	112	1	0	0	0	0	0	0	0	0	4723	581	21	4		4	DOCK2	5	169135205	Translation_Start_Site	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	12544871	169135205	11780055	134	21332											
NSD1	64324	broad.mit.edu	37	chr5	176665487	176665487	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcctgcccttgagtctgagGaattgctagttaaaacgcca	10	10	11	10	1	1	2	0	2	1	0	1	3	1	3	3	2	3	2	3	2	4	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:176665487G>T	ENST00000439151.2	+	7	4216	c.4171G>T	c.(4171-4173)Gaa>Taa	p.E1391*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1122*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1288*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1122*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1391					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGAGTCTGAGGAATTGCTAGT	0.493			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			27	66					3.80469e-20	6.10551e-20	1	0	T	176665487	G	T	176665487	4	4	112	1	0	0	0	0	0	1	0	0	10740	1175	41	2	4193	2	NSD1	5	176665487	Nonsense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	7530282	176665487	4249773	135	21333											
NSD1	64324	broad.mit.edu	37	chr5	176710873	176710873	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactgtgaaacacagaagtGgtctgtgaatggagataccc	14	8	11	8	0	1	4	0	2	1	2	1	5	1	4	1	2	3	0	1	2	5	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:176710873G>A	ENST00000439151.2	+	20	6140	c.6095G>A	c.(6094-6096)tGg>tAg	p.W2032*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.W1929*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.W1763*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.W1763*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2032	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACACAGAAGTGGTCTGTGAAT	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			26	44					0	0	0	0	A	176710873	G	A	176710873	4	1	112	1	0	0	0	0	0	1	0	0	10740	1357	47	4	6169	4	NSD1	5	176710873	Nonsense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	45386	176710873	4204387	136	21334											
FAM50B	26240	broad.mit.edu	37	chr6	3850626	3850626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccttcagctactgggacgGctcgggccaccggcgcacgg	6	5	14	16	5	1	0	1	0	0	0	2	1	1	1	3	5	2	3	3	5	1	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:3850626G>T	ENST00000380274.1	+	1	1007	c.581G>T	c.(580-582)gGc>gTc	p.G194V	FAM50B_ENST00000380272.3_Missense_Mutation_p.G194V			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	194						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TACTGGGACGGCTCGGGCCAC	0.662													29	76					1.06801e-11	1.54196e-11	1	0	T	3850626	G	T	3850626	3	4	112	1	0	0	0	0	1	0	0	0	5625	1203	42	4	583	4	FAM50B	6	3850626	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08		3850626	167264441	137	21335											
DSP	1832	broad.mit.edu	37	chr6	7581190	7581190	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgcgtcagaagactcctgCaagaggaagaagctggagga	14	4	14	9	2	1	4	1	0	0	4	2	7	2	7	2	3	2	2	2	3	4	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:7581190C>T	ENST00000379802.3	+	23	5108	c.4767C>T	c.(4765-4767)tgC>tgT	p.C1589C	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1589	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAGACTCCTGCAAGAGGAAGA	0.557													11	23					0	0	0	0	T	7581190	C	T	7581190	2	4	112	1	0	0	0	0	0	0	0	1	4817	718	25	4		4	DSP	6	7581190	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	3730564	7581190	163533877	138	21336											
HIST1H4D	8360	broad.mit.edu	37	chr6	26189018	26189018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccgaagccataaagagtgCgtccctggcgcttgagcgcg	8	6	14	13	6	0	2	0	1	0	1	1	3	1	2	3	1	3	1	3	1	3	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:26189018C>A	ENST00000340756.2	-	1	286	c.287G>T	c.(286-288)cGc>cTc	p.R96L		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	96					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				ATAAAGAGTGCGTCCCTGGCG	0.547													7	40					5.18039e-06	6.29331e-06	1	0	A	26189018	C	A	26189018	3	1	112	1	0	0	0	0	1	0	0	0	7218	768	27	3	28	3	HIST1H4D	6	26189018	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	18607828	26189018	144926049	139	21337											
PGBD1	84547	broad.mit.edu	37	chr6	28251692	28251692	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtgcaactcacaggaGggcagctcccacactcagga	11	5	12	13	0	2	0	2	0	0	0	3	2	3	2	1	4	3	3	1	4	1	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:28251692G>C	ENST00000405948.2	+	2	522	c.102G>C	c.(100-102)gaG>gaC	p.E34D	PGBD1_ENST00000259883.3_Missense_Mutation_p.E34D	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	34					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ACTCACAGGAGGGCAGCTCCC	0.577													13	49					0	0	0	0	C	28251692	G	C	28251692	3	2	112	1	0	0	0	0	1	0	0	0	11852	991	35	4	104	4	PGBD1	6	28251692	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	2062674	28251692	142863375	140	21338											
TNXB	7148	broad.mit.edu	37	chr6	32036354	32036354	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtggtcaaactgtccCtcgggaactgtccaggacag	11	7	13	10	1	1	0	1	0	0	0	4	3	3	3	2	4	2	0	2	4	3	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:32036354C>A	ENST00000375244.3	-	17	6234	c.6033G>T	c.(6031-6033)gaG>gaT	p.E2011D	TNXB_ENST00000375247.2_Missense_Mutation_p.E2011D			P22105	TENX_HUMAN	tenascin XB	2093	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAAACTGTCCCTCGGGAACTG	0.652													12	39					0.000978159	0.00108052	1	0	A	32036354	C	A	32036354	3	1	112	1	0	0	0	0	1	0	0	0	16440	680	24	4	8792	4	TNXB	6	32036354	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	3784662	32036354	139078713	141	21339											
CLIC5	53405	broad.mit.edu	37	chr6	45870951	45870951	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccgccacaggcctgtcatCtcagccgggatatcatagtt	9	10	9	13	2	3	0	3	0	1	0	4	1	3	1	4	2	2	1	4	2	3	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:45870951C>T	ENST00000185206.6	-	6	1259	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	CLIC5_ENST00000339561.6_Silent_p.E210E	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	369	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						GGCCTGTCATCTCAGCCGGGA	0.502													12	26					0	0	0	0	T	45870951	C	T	45870951	2	4	112	1	0	0	0	0	0	0	0	1	3559	912	32	2		2	CLIC5	6	45870951	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	13834597	45870951	125244116	142	21340											
PLA2G7	7941	broad.mit.edu	37	chr6	46680027	46680027	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgttctacagcagcaactAtaaacccatgagatgccagg	13	9	9	10	0	1	1	0	1	1	1	1	2	1	1	2	1	6	3	2	1	5	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:46680027A>G	ENST00000274793.7	-	6	714	c.518T>C	c.(517-519)aTa>aCa	p.I173T	PLA2G7_ENST00000541026.1_Missense_Mutation_p.I46T|PLA2G7_ENST00000538237.1_Missense_Mutation_p.I128T|PLA2G7_ENST00000537365.1_Missense_Mutation_p.I173T	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	173					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AGCAGCAACTATAAACCCATG	0.383													6	19					0	0	0	0	G	46680027	A	G	46680027	3	3	112	1	0	0	0	0	1	0	0	0	12081	449	16	5	835	5	PLA2G7	6	46680027	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	809076	46680027	124435040	143	21341											
GPR116	221395	broad.mit.edu	37	chr6	46847685	46847685	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttcatagcgccaagaCacattggaggacaaaacttc	13	10	8	10	1	2	1	1	0	1	1	3	3	2	3	1	2	2	1	1	2	4	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:46847685C>T	ENST00000283296.7	-	9	1194	c.906G>A	c.(904-906)gtG>gtA	p.V302V	GPR116_ENST00000362015.4_Silent_p.V302V|GPR116_ENST00000265417.7_Silent_p.V302V|GPR116_ENST00000456426.2_Intron	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	302	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGCGCCAAGACACATTGGAGG	0.443													20	17					0	0	0	0	T	46847685	C	T	46847685	2	4	112	1	0	0	0	0	0	0	0	1	6682	465	17	4		4	GPR116	6	46847685	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	167658	46847685	124267382	144	21342											
GPR110	266977	broad.mit.edu	37	chr6	46977481	46977481	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagaaggaggtcaagtgagTacattggcacgtcacgatgt	12	8	15	6	2	2	2	2	1	0	1	2	5	2	3	0	4	1	2	0	4	3	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:46977481T>A	ENST00000371253.2	-	11	1905	c.1690A>T	c.(1690-1692)Act>Tct	p.T564S	GPR110_ENST00000283297.5_Missense_Mutation_p.T367S|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	564	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GTCAAGTGAGTACATTGGCAC	0.468													9	26					0	0	0	0	A	46977481	T	A	46977481	3	1	112	1	0	0	0	0	1	0	0	0	6676	1638	57	5	1062	5	GPR110	6	46977481	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	129796	46977481	124137586	145	21343											
TFAP2B	7021	broad.mit.edu	37	chr6	50810895	50810895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccatcctggagccggggatCcagagctgcctcacgcactt	7	7	11	16	2	1	1	1	0	0	1	3	3	3	3	5	3	3	2	5	3	0	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:50810895C>G	ENST00000263046.4	+	8	1366	c.1200C>G	c.(1198-1200)atC>atG	p.I400M	TFAP2B_ENST00000393655.3_Missense_Mutation_p.I391M			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	391				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGCCGGGGATCCAGAGCTGCC	0.632													55	93					0	0	0	0	G	50810895	C	G	50810895	3	3	112	1	0	0	0	0	1	0	0	0	15882	845	30	2	1199	2	TFAP2B	6	50810895	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	3833414	50810895	120304172	146	21344											
BAI3	577	broad.mit.edu	37	chr6	69943213	69943213	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggaacgtggtccacccagGgatgtaaaactgtgcttacc	10	9	12	10	1	0	0	0	0	0	0	1	2	1	2	3	3	4	2	3	3	4	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:69943213G>C	ENST00000370598.1	+	18	3333	c.2512G>C	c.(2512-2514)Gga>Cga	p.G838R	BAI3_ENST00000238918.8_Missense_Mutation_p.G44R	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	838	GPS.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTCCACCCAGGGATGTAAAAC	0.478													31	68					0	0	0	0	C	69943213	G	C	69943213	3	2	112	1	0	0	0	0	1	0	0	0	1304	1233	43	4	2574	4	BAI3	6	69943213	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	19132318	69943213	101171854	147	21345											
OGFRL1	79627	broad.mit.edu	37	chr6	72011258	72011258	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtattttgtttatacaattAgagacagaagagaaaggaga	18	11	10	2	0	0	4	0	0	0	4	0	7	0	4	0	1	1	2	0	1	7	7			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:72011258A>G	ENST00000370435.4	+	7	996	c.862A>G	c.(862-864)Aga>Gga	p.R288G	RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	288						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TTATACAATTAGAGACAGAAG	0.408													22	34					0	0	0	0	G	72011258	A	G	72011258	3	3	112	1	0	0	0	0	1	0	0	0	10915	412	15	5	888	5	OGFRL1	6	72011258	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	2068045	72011258	99103809	148	21346											
EEF1A1	1915	broad.mit.edu	37	chr6	74229614	74229614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tattaaacatacctcagcagCctccttctcaaatttttcaa	13	14	2	12	0	3	0	3	0	1	0	5	0	4	0	3	0	4	1	3	0	6	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:74229614C>T	ENST00000316292.9	-	1	1127	c.136G>A	c.(136-138)Gct>Act	p.A46T	EEF1A1_ENST00000309268.6_Missense_Mutation_p.A46T|EEF1A1_ENST00000331523.2_Missense_Mutation_p.A46T	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	46						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACCTCAGCAGCCTCCTTCTCA	0.418													9	34					0	0	0	0	T	74229614	C	T	74229614	3	4	112	1	0	0	0	0	1	0	0	0	4959	739	26	4	1280	4	EEF1A1	6	74229614	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	2218356	74229614	96885453	149	21347											
HTR1B	3351	broad.mit.edu	37	chr6	78172340	78172340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaccgaggacgtggacccggGggagtcggttatcagctggg	7	6	19	9	4	1	0	1	0	0	0	2	5	1	3	2	6	1	2	2	6	1	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:78172340G>T	ENST00000369947.2	-	1	1150	c.781C>A	c.(781-783)Ccc>Acc	p.P261T		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	261					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GTGGACCCGGGGGAGTCGGTT	0.592													33	71					6.50621e-10	9.06291e-10	1	0	T	78172340	G	T	78172340	3	4	112	1	0	0	0	0	1	0	0	0	7490	1232	43	4	395	4	HTR1B	6	78172340	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	3942726	78172340	92942727	150	21348											
LCA5	167691	broad.mit.edu	37	chr6	80197310	80197310	+	Frame_Shift_Del	DEL	G	G	-																															atgttttggggcttctctctGgggagtgtagttttgattca																								rs17857375		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:80197310delG	ENST00000392959.1	-	9	2116	c.1505delC	c.(1504-1506)cafs	p.P502fs	LCA5_ENST00000369846.4_Frame_Shift_Del_p.P502fs	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	502				P -> R (in Ref. 3; AAH50327).	protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GCTTCTCTCTGGGGAGTGTAG	0.383													18	75	---	---	---	---					-	80197310	G	-	80197310	7	5	112	1	0	1	0	1	0	0	0	0	8709	1348	47	0	592	0	LCA5	6	80197310	Frame_Shift_Del	DEL	G	TCGA-CN-A497-01A-11D-A24D-08	2024970	80197310	90917757	151	21349											
SNX14	57231	broad.mit.edu	37	chr6	86257088	86257088	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgcaagaatggaaccaaagGagaagccggttcagttgctt	13	8	12	8	1	1	2	1	0	0	2	1	4	1	3	2	3	4	4	2	3	5	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:86257088G>C	ENST00000314673.3	-	11	1116	c.940C>G	c.(940-942)Cct>Gct	p.P314A	SNX14_ENST00000369627.2_Missense_Mutation_p.P314A|SNX14_ENST00000505648.1_Missense_Mutation_p.P262A|SNX14_ENST00000513865.1_Missense_Mutation_p.P314A|SNX14_ENST00000346348.3_Missense_Mutation_p.P270A|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	314					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GGAACCAAAGGAGAAGCCGGT	0.318													3	7					0	0	0	0	C	86257088	G	C	86257088	3	2	112	1	0	0	0	0	1	0	0	0	14973	1174	41	2	1976	2	SNX14	6	86257088	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	6059778	86257088	84857979	152	21350											
ZNF292	23036	broad.mit.edu	37	chr6	87964708	87964708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattggaaaaccttgaaacGacaatgtcttgcattaatgg	14	11	10	6	1	1	1	0	1	1	0	1	4	1	3	1	3	3	1	1	3	5	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:87964708G>T	ENST00000369577.3	+	8	1404	c.1361G>T	c.(1360-1362)cGa>cTa	p.R454L	ZNF292_ENST00000339907.4_Missense_Mutation_p.R449L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACCTTGAAACGACAATGTCTT	0.368													7	11					0.00198382	0.00217123	1	0	T	87964708	G	T	87964708	3	4	112	1	0	0	0	0	1	0	0	0	17921	1058	37	3	1391	3	ZNF292	6	87964708	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1707620	87964708	83150359	153	21351											
SIM1	6492	broad.mit.edu	37	chr6	100838643	100838643	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctctctctgctggataTggtcacatggtgaagtgttg	6	15	11	9	0	3	1	1	1	2	0	5	2	4	2	1	3	1	2	1	3	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:100838643T>C	ENST00000369208.3	-	12	2677	c.1895A>G	c.(1894-1896)cAt>cGt	p.H632R	SIM1_ENST00000262901.4_Missense_Mutation_p.H632R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	632	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTGCTGGATATGGTCACATGG	0.498													20	43					0	0	0	0	C	100838643	T	C	100838643	3	2	112	1	0	0	0	0	1	0	0	0	14411	1464	51	5	409	5	SIM1	6	100838643	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	12873935	100838643	70276424	154	21352											
FRK	2444	broad.mit.edu	37	chr6	116263644	116263644	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatagtcttcaagtttccaaCgcagtgtctcaaatgtaggt	12	13	8	8	1	3	0	2	0	2	0	5	0	4	0	1	1	1	3	1	1	6	4	rs141525046	by1000genomes	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:116263644C>A	ENST00000606080.1	-	8	1897	c.1451G>T	c.(1450-1452)cGt>cTt	p.R484L	FRK_ENST00000538210.1_Missense_Mutation_p.R342L	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	484	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R484L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AAGTTTCCAACGCAGTGTCTC	0.388													16	42					2.98522e-18	4.6644e-18	1	0	A	116263644	C	A	116263644	3	1	112	1	0	0	0	0	1	0	0	0	6096	536	19	3	70	3	FRK	6	116263644	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	15425001	116263644	54851423	155	21353											
C6orf58	352999	broad.mit.edu	37	chr6	127911383	127911383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattcttcttaatactgatGtagcccctttcatcagtgac	10	15	6	10	0	4	2	2	2	2	0	4	3	4	2	2	0	2	1	2	0	4	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:127911383G>T	ENST00000329722.7	+	5	838	c.826G>T	c.(826-828)Gta>Tta	p.V276L		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	276						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TAATACTGATGTAGCCCCTTT	0.393													24	55					2.24059e-21	3.62001e-21	1	0	T	127911383	G	T	127911383	3	4	112	1	0	0	0	0	1	0	0	0	2389	1377	48	4	844	4	C6orf58	6	127911383	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	11647739	127911383	43203684	156	21354											
LAMA2	3908	broad.mit.edu	37	chr6	129835634	129835634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgccaacaagatcaaacaCcgcattgagctcacagtcga	15	6	7	13	2	2	2	2	1	0	1	3	3	2	2	2	0	4	2	2	0	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:129835634C>A	ENST00000421865.2	+	64	9154	c.9105C>A	c.(9103-9105)caC>caA	p.H3035Q		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3035	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGATCAAACACCGCATTGAGC	0.507													16	31					3.52763e-06	4.32978e-06	1	0	A	129835634	C	A	129835634	3	1	112	1	0	0	0	0	1	0	0	0	8659	506	18	4	9359	4	LAMA2	6	129835634	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	1924251	129835634	41279433	157	21355											
BCLAF1	9774	broad.mit.edu	37	chr6	136599468	136599468	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtatctttcggttcctccTgtgatttacttttcaacgga	7	18	7	9	2	2	1	1	1	1	0	5	2	4	2	2	2	2	2	2	2	3	7			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:136599468T>A	ENST00000531224.1	-	4	803	c.551A>T	c.(550-552)cAg>cTg	p.Q184L	BCLAF1_ENST00000530767.1_Missense_Mutation_p.Q184L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q182L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q184L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q182L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q182L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	184					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CGGTTCCTCCTGTGATTTACT	0.423													37	110					0	0	0	0	A	136599468	T	A	136599468	3	1	112	1	0	0	0	0	1	0	0	0	1387	1580	55	5	2251	5	BCLAF1	6	136599468	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	6763834	136599468	34515599	158	21356											
SYNE1	23345	broad.mit.edu	37	chr6	152545658	152545658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccacctgaacttgcacagCttctaaggagccagtcagca	11	8	9	13	0	2	1	1	1	1	0	3	2	3	2	3	1	5	3	3	1	2	3	rs150723622		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:152545658C>T	ENST00000367255.5	-	117	22094	c.21493G>A	c.(21493-21495)Gct>Act	p.A7165T	SYNE1_ENST00000356820.4_Missense_Mutation_p.A1689T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7094T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7094T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7165T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A6777T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7165					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTTGCACAGCTTCTAAGGAG	0.398										HNSCC(10;0.0054)			11	21					0	0	0	0	T	152545658	C	T	152545658	3	4	112	1	0	0	0	0	1	0	0	0	15536	797	28	4	5093	4	SYNE1	6	152545658	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	15946190	152545658	18569409	159	21357											
SYNE1	23345	broad.mit.edu	37	chr6	152552560	152552560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccttgcagaatttgccaaCttttattcattgctccaagt	10	15	6	10	0	1	1	1	0	0	1	2	2	2	1	3	0	4	2	3	0	4	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:152552560C>A	ENST00000367255.5	-	114	21606	c.21005G>T	c.(21004-21006)aGt>aTt	p.S7002I	SYNE1_ENST00000356820.4_Missense_Mutation_p.S1526I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6931I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6931I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7002I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6614I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7002					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATTTGCCAACTTTTATTCAT	0.438										HNSCC(10;0.0054)			14	30					6.31663e-08	8.24285e-08	1	0	A	152552560	C	A	152552560	3	1	112	1	0	0	0	0	1	0	0	0	15536	565	20	4	5593	4	SYNE1	6	152552560	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	6902	152552560	18562507	160	21358											
SYNE1	23345	broad.mit.edu	37	chr6	152679534	152679534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacgcaatgttgtctcatGagtgtgggcatcaccttcaa	10	12	9	10	1	4	1	4	1	1	0	5	1	4	1	1	1	0	3	1	1	2	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:152679534G>T	ENST00000367255.5	-	66	11183	c.10582C>A	c.(10582-10584)Cat>Aat	p.H3528N	SYNE1_ENST00000448038.1_Missense_Mutation_p.H3535N|SYNE1_ENST00000423061.1_Missense_Mutation_p.H3535N|SYNE1_ENST00000265368.4_Missense_Mutation_p.H3528N|SYNE1_ENST00000341594.5_Missense_Mutation_p.H3499N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3528					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTGTCTCATGAGTGTGGGCA	0.403										HNSCC(10;0.0054)			13	40					1.15088e-07	1.48956e-07	1	0	T	152679534	G	T	152679534	3	4	112	1	0	0	0	0	1	0	0	0	15536	1290	45	2	16208	2	SYNE1	6	152679534	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	126974	152679534	18435533	161	21359											
SYNE1	23345	broad.mit.edu	37	chr6	152763221	152763221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctacctggatgcggcGttcctgcctctcccggctgc	2	10	12	17	3	1	0	0	0	1	0	4	1	3	1	5	4	4	3	5	4	1	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:152763221G>T	ENST00000367255.5	-	31	4598	c.3997C>A	c.(3997-3999)Cgc>Agc	p.R1333S	SYNE1_ENST00000448038.1_Missense_Mutation_p.R1340S|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1340S|SYNE1_ENST00000413186.2_Missense_Mutation_p.R1333S|SYNE1_ENST00000367248.3_Missense_Mutation_p.R1323S|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1333S|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1333S|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1399S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1333					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGATGCGGCGTTCCTGCCTC	0.622										HNSCC(10;0.0054)			30	79					5.60225e-13	8.34191e-13	1	0	T	152763221	G	T	152763221	3	4	112	1	0	0	0	0	1	0	0	0	15536	1145	40	3	22933	3	SYNE1	6	152763221	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	83687	152763221	18351846	162	21360											
FNDC1	84624	broad.mit.edu	37	chr6	159653190	159653190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggagctgggttcccGggaggactcgcccatgtcac	7	6	17	11	2	1	0	1	0	0	0	3	5	2	5	2	6	1	2	2	6	0	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:159653190G>T	ENST00000297267.9	+	11	1846	c.1646G>T	c.(1645-1647)cGg>cTg	p.R549L	FNDC1_ENST00000340366.6_Missense_Mutation_p.R486L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	549						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTGGGTTCCCGGGAGGACTCG	0.627													6	11					3.59834e-05	4.23072e-05	1	0	T	159653190	G	T	159653190	3	4	112	1	0	0	0	0	1	0	0	0	6013	1116	39	3	1688	3	FNDC1	6	159653190	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	6889969	159653190	11461877	163	21361											
FRMD1	79981	broad.mit.edu	37	chr6	168467434	168467434	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttacagtccgcatgccgttaCcttatgacccttccgttttc	6	15	6	14	3	0	1	0	1	0	0	3	1	2	1	5	0	3	3	5	0	3	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:168467434C>G	ENST00000283309.6	-	4	526		c.e4+1		FRMD1_ENST00000440994.2_Splice_Site|FRMD1_ENST00000537786.1_Splice_Site	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1							cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CATGCCGTTACCTTATGACCC	0.507													5	20					0	0	0	0	G	168467434	C	G	168467434	5	3	112	1	0	0	0	0	0	0	1	0	6097	521	18	4	1219	4	FRMD1	6	168467434	Splice_Site	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	8814244	168467434	2647633	164	21362											
TNRC18	84629	broad.mit.edu	37	chr7	5427940	5427940	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtttccatttatgctcaggGccggtgggcggggggcgccc	3	9	18	11	3	1	0	1	0	0	0	2	0	2	0	3	7	1	2	3	7	1	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:5427940G>A	ENST00000399537.4	-	5	1863	c.1515C>T	c.(1513-1515)ggC>ggT	p.G505G	TNRC18_ENST00000430969.1_Silent_p.G505G			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	505	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TATGCTCAGGGCCGGTGGGCG	0.736													14	30					0	0	0	0	A	5427940	G	A	5427940	2	1	112	1	0	0	0	0	0	0	0	1	16433	1190	42	4		4	TNRC18	7	5427940	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08		5427940	153710723	165	21363											
THSD7A	221981	broad.mit.edu	37	chr7	11418802	11418802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcacatctcctcttttgtCctccatggtgggtaatacca	7	16	6	12	0	3	0	1	0	2	0	6	0	5	0	4	2	1	1	4	2	2	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:11418802C>A	ENST00000423059.3	-	26	4947	c.4696G>T	c.(4696-4698)Gac>Tac	p.D1566Y	AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000421121.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1566						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTCTTTTGTCCTCCATGGTG	0.507										HNSCC(18;0.044)			17	32					1.5739e-10	2.225e-10	1	0	A	11418802	C	A	11418802	3	1	112	1	0	0	0	0	1	0	0	0	15973	855	30	2	289	2	THSD7A	7	11418802	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	5990862	11418802	147719861	166	21364											
HDAC9	9734	broad.mit.edu	37	chr7	18633556	18633556	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaccacacatcattggatCaaagctctccaccccttagt	11	9	4	17	0	3	0	2	0	1	0	4	1	3	1	5	1	1	1	5	1	2	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:18633556C>T	ENST00000406451.3	+	6	709	c.559C>T	c.(559-561)Caa>Taa	p.Q187*	HDAC9_ENST00000432645.2_Nonsense_Mutation_p.Q187*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.Q190*|HDAC9_ENST00000456174.2_Nonsense_Mutation_p.Q159*|HDAC9_ENST00000524023.1_Nonsense_Mutation_p.Q154*|HDAC9_ENST00000417496.2_Nonsense_Mutation_p.Q229*|HDAC9_ENST00000405010.3_Nonsense_Mutation_p.Q187*|HDAC9_ENST00000428307.2_Nonsense_Mutation_p.Q187*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.Q190*|HDAC9_ENST00000406072.1_Nonsense_Mutation_p.Q218*	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	187	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATCATTGGATCAAAGCTCTCC	0.433													27	67					0	0	0	0	T	18633556	C	T	18633556	4	4	112	1	0	0	0	0	0	1	0	0	7064	827	29	2	586	2	HDAC9	7	18633556	Nonsense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	7214754	18633556	140505107	167	21365											
NPC1L1	29881	broad.mit.edu	37	chr7	44553197	44553197	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatgactgctgccaccGcctcctcagcccgcttctgc	5	8	7	21	2	2	1	1	1	1	0	3	1	3	1	7	0	4	2	7	0	0	1	rs143889287		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:44553197G>C	ENST00000289547.4	-	20	3984	c.3929C>G	c.(3928-3930)gCg>gGg	p.A1310G	NPC1L1_ENST00000381160.3_Missense_Mutation_p.A1283G|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A1237G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1310					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGCTGCCACCGCCTCCTCAGC	0.582													16	47					0	0	0	0	C	44553197	G	C	44553197	3	2	112	1	0	0	0	0	1	0	0	0	10641	1087	38	3	154	3	NPC1L1	7	44553197	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	25919641	44553197	114585466	168	21366											
ABCA13	154664	broad.mit.edu	37	chr7	48626772	48626772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctggagacctcatcaggcGcttacacctcgaagcccacg	9	7	10	15	3	2	1	2	0	0	1	3	3	2	1	3	2	3	2	3	2	2	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:48626772G>A	ENST00000435803.1	+	57	14552	c.14528G>A	c.(14527-14529)cGc>cAc	p.R4843H	ABCA13_ENST00000544596.1_Missense_Mutation_p.R573H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4843	ABC transporter 2.				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						CTCATCAGGCGCTTACACCTC	0.587													7	8					0	0	0	0	A	48626772	G	A	48626772	3	1	112	1	0	0	0	0	1	0	0	0	31	1087	38	1	14583	1	ABCA13	7	48626772	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	4073575	48626772	110511891	169	21367											
VWC2	375567	broad.mit.edu	37	chr7	49842419	49842419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgagcctgatcagtgctGtcccatctgcaaaaatggta	11	10	10	10	1	2	1	1	1	1	0	3	2	3	1	2	1	4	4	2	1	4	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:49842419G>T	ENST00000340652.3	+	3	1365	c.809G>T	c.(808-810)tGt>tTt	p.C270F		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	270	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GATCAGTGCTGTCCCATCTGC	0.577													13	38					0.000151284	0.000175269	1	0	T	49842419	G	T	49842419	3	4	112	1	0	0	0	0	1	0	0	0	17339	1377	48	4	815	4	VWC2	7	49842419	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1215647	49842419	109296244	170	21368											
IKZF1	10320	broad.mit.edu	37	chr7	50468093	50468093	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgcgcgccgcctccgAgaactcgcaggacgcgctcc	5	5	12	19	7	0	1	0	0	0	1	3	3	2	2	5	1	3	3	5	1	1	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:50468093A>T	ENST00000331340.3	+	8	1483	c.1328A>T	c.(1327-1329)gAg>gTg	p.E443V	IKZF1_ENST00000357364.4_Missense_Mutation_p.E356V|IKZF1_ENST00000346667.4_Missense_Mutation_p.E213V|IKZF1_ENST00000439701.1_Missense_Mutation_p.E401V|IKZF1_ENST00000438033.1_Missense_Mutation_p.E356V|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000349824.4_Missense_Mutation_p.E300V|IKZF1_ENST00000343574.5_Missense_Mutation_p.E356V|IKZF1_ENST00000359197.5_Missense_Mutation_p.E401V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	443					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCCGCCTCCGAGAACTCGCAG	0.657			"D,T"	BCL6	"ALL, DLBCL"								9	40					0	0	0	0	T	50468093	A	T	50468093	3	4	112	1	0	0	0	0	1	0	0	0	7667	304	11	5	1354	5	IKZF1	7	50468093	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	625674	50468093	108670570	171	21369											
ZNF117	51351	broad.mit.edu	37	chr7	64438807	64438807	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattctctccagtatggattAtcttatgtgtattaagggct	9	17	9	6	0	2	0	0	0	2	0	4	2	3	1	1	2	0	3	1	2	5	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:64438807A>T	ENST00000282869.5	-	4	2426	c.1142T>A	c.(1141-1143)aTa>aAa	p.I381K		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	381						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AGTATGGATTATCTTATGTGT	0.388													21	38					0	0	0	0	T	64438807	A	T	64438807	3	4	112	1	0	0	0	0	1	0	0	0	17812	449	16	5	313	5	ZNF117	7	64438807	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	13970714	64438807	94699856	172	21370											
ASL	435	broad.mit.edu	37	chr7	65551735	65551735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcttcccacagccacGccgtggcactgacccgagac	7	5	10	19	3	0	2	0	1	0	1	1	3	1	2	5	2	1	2	5	2	0	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:65551735G>T	ENST00000304874.9	+	8	631	c.529G>T	c.(529-531)Gcc>Tcc	p.A177S	ASL_ENST00000380839.4_Intron|ASL_ENST00000395331.3_Missense_Mutation_p.A177S|ASL_ENST00000395332.3_Missense_Mutation_p.A177S	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	177					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCACAGCCACGCCGTGGCACT	0.687													3	9					1	1	1	0	T	65551735	G	T	65551735	3	4	112	1	0	0	0	0	1	0	0	0	1048	1087	38	3	555	3	ASL	7	65551735	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1112928	65551735	93586928	173	21371											
HGF	3082	broad.mit.edu	37	chr7	81392160	81392160	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgattttttgaattcatgAattgtatttcttcttttcct	7	23	5	6	0	3	3	1	3	2	0	4	3	4	3	1	0	0	2	1	0	3	10			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:81392160A>T	ENST00000222390.5	-	2	343	c.117T>A	c.(115-117)atT>atA	p.I39I	HGF_ENST00000423064.2_Silent_p.I39I|HGF_ENST00000354224.6_Silent_p.I39I|HGF_ENST00000457544.2_Silent_p.I39I|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000453411.1_Silent_p.I39I|HGF_ENST00000444829.2_Silent_p.I39I	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	39	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGAATTCATGAATTGTATTTC	0.269													6	7					0	0	0	0	T	81392160	A	T	81392160	2	4	112	1	0	0	0	0	0	0	0	1	7135	242	9	5		5	HGF	7	81392160	Silent	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	15840425	81392160	77746503	174	21372											
PCLO	27445	broad.mit.edu	37	chr7	82584024	82584024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccaatgggggcctgggttGggctagatccaggtgttaat	8	10	15	8	0	0	1	0	0	0	1	1	1	1	1	3	5	0	3	3	5	3	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:82584024G>T	ENST00000423517.2	-	5	6582	c.6245C>A	c.(6244-6246)cCa>cAa	p.P2082Q	PCLO_ENST00000333891.8_Missense_Mutation_p.P2082Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2013					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCCTGGGTTGGGCTAGATCC	0.463													9	32					0.000274275	0.000309455	1	0	T	82584024	G	T	82584024	3	4	112	1	0	0	0	0	1	0	0	0	11654	1348	47	4	9284	4	PCLO	7	82584024	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1191864	82584024	76554639	175	21373											
ADAM22	53616	broad.mit.edu	37	chr7	87757924	87757924	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcctgtgttacagcttcgtcGatatcctcgtaatgtagaag	9	14	9	9	3	0	1	0	0	0	1	5	2	2	1	2	0	2	4	2	0	5	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:87757924G>C	ENST00000398204.4	+	9	1009	c.686G>C	c.(685-687)cGa>cCa	p.R229P	ADAM22_ENST00000398209.3_Missense_Mutation_p.R229P|ADAM22_ENST00000398201.4_Missense_Mutation_p.R229P|ADAM22_ENST00000439864.1_Missense_Mutation_p.R229P|ADAM22_ENST00000315984.7_Missense_Mutation_p.R229P|ADAM22_ENST00000265727.7_Missense_Mutation_p.R229P	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	229					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGCTTCGTCGATATCCTCGT	0.368													6	13					0	0	0	0	C	87757924	G	C	87757924	3	2	112	1	0	0	0	0	1	0	0	0	244	1058	37	3	720	3	ADAM22	7	87757924	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	5173900	87757924	71380739	176	21374											
AKAP9	10142	broad.mit.edu	37	chr7	91643574	91643574	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctattaggtgatgaaggaAagcctttacatctgctcatt	11	15	8	7	0	3	2	1	2	2	0	3	3	3	3	1	2	3	1	1	2	5	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:91643574A>T	ENST00000359028.2	+	11	3805	c.3580A>T	c.(3580-3582)Aag>Tag	p.K1194*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.K1182*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.K1194*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1194					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGATGAAGGAAAGCCTTTACA	0.313			T	BRAF	papillary thyroid								9	9					0	0	0	0	T	91643574	A	T	91643574	4	4	112	1	0	0	0	0	0	1	0	0	459	15	1	5	3582	5	AKAP9	7	91643574	Nonsense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	3885650	91643574	67495089	177	21375											
RINT1	60561	broad.mit.edu	37	chr7	105183003	105183003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgactgcgcaaccttGgatggacgatcttggaacca	9	11	11	10	2	1	1	0	1	1	0	1	5	1	4	2	3	4	2	2	3	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:105183003G>T	ENST00000257700.2	+	4	653	c.422G>T	c.(421-423)tGg>tTg	p.W141L	RINT1_ENST00000477285.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	141					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCGCAACCTTGGATGGACGAT	0.393													12	27					1.05317e-09	1.45002e-09	1	0	T	105183003	G	T	105183003	3	4	112	1	0	0	0	0	1	0	0	0	13461	1357	47	4	436	4	RINT1	7	105183003	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	13539429	105183003	53955660	178	21376											
GPR37	2861	broad.mit.edu	37	chr7	124404222	124404222	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgccggtcccgaagatcAccacggacagacacatgacc	12	5	10	14	3	1	4	1	2	0	2	2	6	2	5	4	2	1	0	4	2	1	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:124404222A>G	ENST00000303921.2	-	1	1459	c.809T>C	c.(808-810)gTg>gCg	p.V270A		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	270						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCGAAGATCACCACGGACAG	0.587													15	36					0	0	0	0	G	124404222	A	G	124404222	3	3	112	1	0	0	0	0	1	0	0	0	6740	159	6	5	1040	5	GPR37	7	124404222	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	19221219	124404222	34734441	179	21377											
WDR91	29062	broad.mit.edu	37	chr7	134878065	134878065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgccgatgtctggtgctGagaagtccacctgggaagtg	7	10	15	9	1	1	1	0	1	1	1	2	4	2	2	3	2	3	2	3	2	2	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:134878065G>A	ENST00000354475.4	-	11	1608	c.1577C>T	c.(1576-1578)tCa>tTa	p.S526L	WDR91_ENST00000423565.1_Missense_Mutation_p.S491L|WDR91_ENST00000344400.5_Missense_Mutation_p.S526L	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	526										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTCTGGTGCTGAGAAGTCCAC	0.602													16	41					0	0	0	0	A	134878065	G	A	134878065	3	1	112	1	0	0	0	0	1	0	0	0	17434	1294	45	2	686	2	WDR91	7	134878065	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	10473843	134878065	24260598	180	21378											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138406769	138406769	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggatcctggatgcctgcAgctgacaacaagcagggaaa	12	7	12	10	0	0	1	0	1	0	0	1	4	1	4	2	3	5	3	2	3	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:138406769A>T	ENST00000310018.2	-	19	2294	c.2010_splice	c.e19-1	p.L671_splice	ATP6V0A4_ENST00000353492.4_Splice_Site_p.L671_splice|ATP6V0A4_ENST00000393054.1_Splice_Site_p.L671_splice	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	671					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGATGCCTGCAGCTGACAACA	0.463													7	16					0	0	0	0	T	138406769	A	T	138406769	5	4	112	1	0	0	0	0	0	0	1	0	1174	202	7	5	526	5	ATP6V0A4	7	138406769	Splice_Site	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	3528704	138406769	20731894	181	21379											
CNTNAP2	26047	broad.mit.edu	37	chr7	147844614	147844614	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccttttcatttgatgtGggaaatgggccagtagagat	9	14	13	5	0	1	2	1	1	0	1	2	4	2	3	2	2	0	1	2	2	2	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:147844614G>T	ENST00000361727.3	+	17	3102	c.2586G>T	c.(2584-2586)gtG>gtT	p.V862V	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	862	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CATTTGATGTGGGAAATGGGC	0.483										HNSCC(39;0.1)			40	60					5.44703e-19	8.59581e-19	1	0	T	147844614	G	T	147844614	2	4	112	1	0	0	0	0	0	0	0	1	3677	1335	47	4		4	CNTNAP2	7	147844614	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	9437845	147844614	11294049	182	21380											
GALNTL5	168391	broad.mit.edu	37	chr7	151664376	151664376	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattctatgggtccttgacAtttgggatctggacagctct	7	16	10	8	0	3	1	0	1	3	0	4	3	4	3	1	3	1	1	1	3	2	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:151664376A>G	ENST00000392800.2	+	2	299	c.45A>G	c.(43-45)acA>acG	p.T15T	GALNTL5_ENST00000431418.2_Silent_p.T15T	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	15						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GGTCCTTGACATTTGGGATCT	0.393													5	14					0	0	0	0	G	151664376	A	G	151664376	2	3	112	1	0	0	0	0	0	0	0	1	6273	204	8	5		5	GALNTL5	7	151664376	Silent	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	3819762	151664376	7474287	183	21381											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19316149	19316149	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccctttctgttcggtaGatccctgttaagagaaaaac	10	14	8	9	1	1	2	0	0	1	2	4	3	3	2	2	1	1	3	2	1	4	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:19316149G>T	ENST00000454498.2	-	5	1652	c.639C>A	c.(637-639)atC>atA	p.I213I	CSGALNACT1_ENST00000311540.4_Silent_p.I213I|CSGALNACT1_ENST00000522854.1_Silent_p.I213I|CSGALNACT1_ENST00000544602.1_Silent_p.I213I|CSGALNACT1_ENST00000332246.6_Silent_p.I213I|CSGALNACT1_ENST00000518542.1_5'UTR	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	213					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CTGTTCGGTAGATCCCTGTTA	0.418													20	24					7.21436e-19	1.13471e-18	1	0	T	19316149	G	T	19316149	2	4	112	1	0	0	0	0	0	0	0	1	3970	932	33	2		2	CSGALNACT1	8	19316149	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08		19316149	127047873	184	21382											
SNTG1	54212	broad.mit.edu	37	chr8	51705285	51705285	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgcattcattccttctttGctgccaaggtagcttgtttg	6	17	8	10	0	2	0	1	0	1	0	3	0	3	0	2	1	4	5	2	1	2	7			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:51705285G>C	ENST00000522124.1	+	19	2111	c.1450G>C	c.(1450-1452)Gct>Cct	p.A484P	SNTG1_ENST00000517473.1_Missense_Mutation_p.A447P|SNTG1_ENST00000518864.1_Missense_Mutation_p.A484P|SNTG1_ENST00000276467.5_Missense_Mutation_p.A447P	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	484					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTCCTTCTTTGCTGCCAAGGT	0.398													12	44					0	0	0	0	C	51705285	G	C	51705285	3	2	112	1	0	0	0	0	1	0	0	0	14962	1319	46	4	1516	4	SNTG1	8	51705285	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	32389136	51705285	94658737	185	21383											
PXDNL	137902	broad.mit.edu	37	chr8	52321744	52321744	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcaggcactgtgtggtccaAgtcgtgctctagaaaccagc	9	8	12	12	2	1	1	0	0	1	1	3	1	2	1	2	2	3	3	2	2	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:52321744A>T	ENST00000356297.4	-	17	2540	c.2440T>A	c.(2440-2442)Ttg>Atg	p.L814M	PXDNL_ENST00000543296.1_Missense_Mutation_p.L814M	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	814					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTGTGGTCCAAGTCGTGCTCT	0.667													9	26					0	0	0	0	T	52321744	A	T	52321744	3	4	112	1	0	0	0	0	1	0	0	0	12930	69	3	5	1979	5	PXDNL	8	52321744	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	616459	52321744	94042278	186	21384											
FAM110B	90362	broad.mit.edu	37	chr8	59059284	59059284	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcggagtccctgaaggtCtaccccacgcagggccgcag	7	6	13	15	4	1	1	0	1	1	0	3	2	2	2	4	3	1	2	4	3	2	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:59059284C>A	ENST00000361488.3	+	5	1375	c.495C>A	c.(493-495)gtC>gtA	p.V165V	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	165						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CCCTGAAGGTCTACCCCACGC	0.697													12	22					0.010729	0.0113503	1	0	A	59059284	C	A	59059284	2	1	112	1	0	0	0	0	0	0	0	1	5438	900	32	2		2	FAM110B	8	59059284	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	6737540	59059284	87304738	187	21385											
CLVS1	157807	broad.mit.edu	37	chr8	62212468	62212468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaagatgacccatttacagGctggactcagtccagagact	12	8	9	12	0	1	3	1	1	0	2	2	5	2	4	3	2	1	1	3	2	2	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:62212468G>T	ENST00000519846.1	+	3	554	c.82G>T	c.(82-84)Gct>Tct	p.A28S	CLVS1_ENST00000325897.4_Missense_Mutation_p.A28S|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	28					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCATTTACAGGCTGGACTCAG	0.448													14	12					9.31168e-06	1.11693e-05	1	0	T	62212468	G	T	62212468	3	4	112	1	0	0	0	0	1	0	0	0	3601	1203	42	4	84	4	CLVS1	8	62212468	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	3153184	62212468	84151554	188	21386											
MYBL1	4603	broad.mit.edu	37	chr8	67514665	67514665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataattacctcgtcccttgtCcattttactctgttccagag	8	16	5	12	1	1	1	0	0	1	1	5	1	4	1	4	0	2	1	4	0	3	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:67514665C>A	ENST00000522677.3	-	2	524	c.114G>T	c.(112-114)tgG>tgT	p.W38C	MYBL1_ENST00000517885.1_Missense_Mutation_p.W38C|MYBL1_ENST00000524176.2_Missense_Mutation_p.W38C	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	38	HTH myb-type 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CGTCCCTTGTCCATTTTACTC	0.398													9	16					5.4927e-09	7.43315e-09	1	0	A	67514665	C	A	67514665	3	1	112	1	0	0	0	0	1	0	0	0	10079	856	30	2	2204	2	MYBL1	8	67514665	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	5302197	67514665	78849357	189	21387											
ARFGEF1	10565	broad.mit.edu	37	chr8	68152517	68152517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgcagccagaaaaggcgtCcaagccaactacaaaaatta	19	5	7	10	1	0	1	0	0	0	1	1	1	1	1	3	1	5	1	3	1	9	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:68152517C>A	ENST00000262215.3	-	20	3248	c.2859G>T	c.(2857-2859)tgG>tgT	p.W953C	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.W407C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	953					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAAAAGGCGTCCAAGCCAACT	0.323													7	36					0.000274275	0.000309455	1	0	A	68152517	C	A	68152517	3	1	112	1	0	0	0	0	1	0	0	0	854	856	30	2	2770	2	ARFGEF1	8	68152517	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	637852	68152517	78211505	190	21388											
TERF1	7013	broad.mit.edu	37	chr8	73958220	73958220	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgggaagaagacaagAatttgagatctggcgtgagg	12	9	16	4	1	1	5	0	2	1	4	1	7	1	6	0	4	0	1	0	4	4	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:73958220A>T	ENST00000276602.6	+	9	1131	c.1108A>T	c.(1108-1110)Aat>Tat	p.N370Y	TERF1_ENST00000276603.5_Missense_Mutation_p.N390Y	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	390	Interaction with RLIM.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AGAAGACAAGAATTTGAGATC	0.333													15	14					0	0	0	0	T	73958220	A	T	73958220	3	4	112	1	0	0	0	0	1	0	0	0	15855	246	9	5	1206	5	TERF1	8	73958220	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	5805703	73958220	72405802	191	21389											
GDF6	392255	broad.mit.edu	37	chr8	97157062	97157062	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatccagtcgtcccagcccAgctccttgaagttcacgtgc	8	10	8	15	2	1	1	1	1	0	0	5	1	4	1	4	0	3	2	4	0	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:97157062A>T	ENST00000287020.5	-	2	1196	c.1097T>A	c.(1096-1098)cTg>cAg	p.L366Q		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	366					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GTCCCAGCCCAGCTCCTTGAA	0.652													10	25					0	0	0	0	T	97157062	A	T	97157062	3	4	112	1	0	0	0	0	1	0	0	0	6368	188	7	5	274	5	GDF6	8	97157062	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	23198842	97157062	49206960	192	21390											
SLC25A32	81034	broad.mit.edu	37	chr8	104419928	104419928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggttactccttgataaagtCcccgtagtccatcaagtttc	9	13	8	11	1	1	1	1	1	0	0	5	1	4	1	4	1	1	3	4	1	5	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:104419928C>A	ENST00000297578.4	-	2	405	c.239G>T	c.(238-240)gGa>gTa	p.G80V	SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	80					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TTGATAAAGTCCCCGTAGTCC	0.393													13	45					1.5842e-08	2.09609e-08	1	0	A	104419928	C	A	104419928	3	1	112	1	0	0	0	0	1	0	0	0	14584	855	30	2	732	2	SLC25A32	8	104419928	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	7262866	104419928	41944094	193	21391											
PKHD1L1	93035	broad.mit.edu	37	chr8	110431352	110431352	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacacttgcatagaccttcTggatctcgtaagaacgaaat	13	12	7	9	2	2	2	0	0	2	2	3	4	2	3	1	1	3	2	1	1	5	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:110431352T>A	ENST00000378402.5	+	22	2491	c.2387T>A	c.(2386-2388)cTg>cAg	p.L796Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	796					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATAGACCTTCTGGATCTCGTA	0.363										HNSCC(38;0.096)			6	19					0	0	0	0	A	110431352	T	A	110431352	3	1	112	1	0	0	0	0	1	0	0	0	12044	1580	55	5	2473	5	PKHD1L1	8	110431352	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	6011424	110431352	35932670	194	21392											
PKHD1L1	93035	broad.mit.edu	37	chr8	110499017	110499017	+	Missense_Mutation	SNP	G	G	A																															ttggagcacgcgtactggttGgctcattcactgaaaatatg																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:110499017G>A	ENST00000378402.5	+	59	9951	c.9847G>A	c.(9847-9849)Ggc>Agc	p.G3283S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3283					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CGTACTGGTTGGCTCATTCAC	0.383										HNSCC(38;0.096)			19	47					0	0	0	0	A	110499017	G	A	110499017	3	1	112	1	0	0	0	0	1	0	0	0	12044	1348	47	4	10081	4	PKHD1L1	8	110499017	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	67665	110499017	35865005	195	21393	178	2									
PKHD1L1	93035	broad.mit.edu	37	chr8	110499018	110499018	+	Missense_Mutation	SNP	G	G	A																															tggagcacgcgtactggttgGctcattcactgaaaatatga																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:110499018G>A	ENST00000378402.5	+	59	9952	c.9848G>A	c.(9847-9849)gGc>gAc	p.G3283D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3283					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTACTGGTTGGCTCATTCACT	0.383										HNSCC(38;0.096)			19	46					0	0	0	0	A	110499018	G	A	110499018	3	1	112	1	0	0	0	0	1	0	0	0	12044	1203	42	4	10082	4	PKHD1L1	8	110499018	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1	110499018	35865004	196	21394	178	2									
CSMD3	114788	broad.mit.edu	37	chr8	113301620	113301620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggttgtgatccactcCaatggccattcaattggcag	11	11	10	9	0	1	2	1	2	0	0	3	2	3	2	3	3	0	2	3	3	3	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:113301620C>A	ENST00000297405.5	-	57	9366	c.9122G>T	c.(9121-9123)tGg>tTg	p.W3041L	CSMD3_ENST00000343508.3_Missense_Mutation_p.W3001L|CSMD3_ENST00000352409.3_Missense_Mutation_p.W2971L|CSMD3_ENST00000455883.2_Missense_Mutation_p.W2872L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3041	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATCCACTCCAATGGCCATT	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	30					3.07112e-06	3.78904e-06	1	0	A	113301620	C	A	113301620	3	1	112	1	0	0	0	0	1	0	0	0	3978	595	21	4	2061	4	CSMD3	8	113301620	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	2802602	113301620	33062402	197	21395											
CSMD3	114788	broad.mit.edu	37	chr8	113529454	113529454	+	Splice_Site	SNP	C	C	A																															gacacgcagtggcaacagaaCctatcaaaagacagagacaa																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:113529454C>A	ENST00000297405.5	-	28	4809	c.4564_splice	c.e28-1	p.S1522_splice	CSMD3_ENST00000343508.3_Splice_Site_p.S1482_splice|CSMD3_ENST00000352409.3_Splice_Site_p.S1522_splice|CSMD3_ENST00000455883.2_Splice_Site_p.S1418_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1522	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCAACAGAACCTATCAAAAG	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	14					0.150653	0.153563	1	0	A	113529454	C	A	113529454	5	1	112	1	0	0	0	0	0	0	1	0	3978	521	18	4	6734	4	CSMD3	8	113529454	Splice_Site	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	227834	113529454	32834568	198	21396	179	2									
CSMD3	114788	broad.mit.edu	37	chr8	113529455	113529455	+	Splice_Site	SNP	C	C	T																															acacgcagtggcaacagaacCtatcaaaagacagagacaaa																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:113529455C>T	ENST00000297405.5	-	28	4809		c.e28-1		CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCAACAGAACCTATCAAAAGA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	14					0	0	0	0	T	113529455	C	T	113529455	5	4	112	1	0	0	0	0	0	0	1	0	3978	695	24	4	6735	4	CSMD3	8	113529455	Splice_Site	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	1	113529455	32834567	199	21397	179	2									
FER1L6	654463	broad.mit.edu	37	chr8	125083772	125083772	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctgcatctacaaaagccCccaggattctagctctgagg	10	10	8	13	0	4	1	0	1	4	0	4	2	4	2	2	2	4	2	2	2	4	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:125083772C>A	ENST00000522917.1	+	31	4198	c.3992C>A	c.(3991-3993)cCc>cAc	p.P1331H	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1331H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1331						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TACAAAAGCCCCCAGGATTCT	0.522													12	21					2.27111e-07	2.90776e-07	1	0	A	125083772	C	A	125083772	3	1	112	1	0	0	0	0	1	0	0	0	5860	623	22	4	4110	4	FER1L6	8	125083772	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	11554317	125083772	21280250	200	21398											
FAM135B	51059	broad.mit.edu	37	chr8	139163784	139163784	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagtgcctgctttatgtttAgcctccgggaaggcattcac	8	12	10	11	1	1	0	1	0	0	0	2	1	2	1	3	2	3	3	3	2	3	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:139163784A>C	ENST00000395297.1	-	13	3104	c.2934T>G	c.(2932-2934)gcT>gcG	p.A978A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	978										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTTATGTTTAGCCTCCGGGA	0.498										HNSCC(54;0.14)			14	44					0	0	0	0	C	139163784	A	C	139163784	2	2	112	1	0	0	0	0	0	0	0	1	5490	407	15	5		5	FAM135B	8	139163784	Silent	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	14080012	139163784	7200238	201	21399											
SPATC1	375686	broad.mit.edu	37	chr8	145096219	145096219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccagcatcttcccagagCgcgtacggctctacggcttc	6	10	10	15	4	2	1	0	0	2	1	5	1	4	1	2	2	4	4	2	2	2	4	rs148669001		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:145096219C>A	ENST00000377470.3	+	4	1495	c.1393C>A	c.(1393-1395)Cgc>Agc	p.R465S	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	465										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCCCAGAGCGCGTACGGCT	0.632													11	31					0.00136819	0.00150787	1	0	A	145096219	C	A	145096219	3	1	112	1	0	0	0	0	1	0	0	0	15107	768	27	3	1407	3	SPATC1	8	145096219	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	5932435	145096219	1267803	202	21400											
MAF1	84232	broad.mit.edu	37	chr8	145161460	145161460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaccctatactccccagctAtaacccagacttggactcag	11	9	5	16	0	2	1	2	0	0	1	3	2	3	2	4	1	3	1	4	1	4	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:145161460A>G	ENST00000534585.1	+	5	984	c.593A>G	c.(592-594)tAt>tGt	p.Y198C	MAF1_ENST00000322428.5_Missense_Mutation_p.Y168C|MAF1_ENST00000532522.1_Missense_Mutation_p.Y168C			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	168					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus				central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCCCAGCTATAACCCAGAC	0.562													11	36					0	0	0	0	G	145161460	A	G	145161460	3	3	112	1	0	0	0	0	1	0	0	0	9221	449	16	5	521	5	MAF1	8	145161460	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	65241	145161460	1202562	203	21401											
GLIS3	169792	broad.mit.edu	37	chr9	4118407	4118407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcggctggggaatgcaGctgccgcgcacgcccaggaa	7	3	18	13	5	0	0	0	0	0	0	0	2	0	2	2	5	3	4	2	5	2	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:4118407G>T	ENST00000324333.10	-	3	799	c.606C>A	c.(604-606)agC>agA	p.S202R	GLIS3_ENST00000381971.3_Missense_Mutation_p.S357R	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	202					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGGGAATGCAGCTGCCGCGCA	0.736													14	16					4.3838e-07	5.53805e-07	1	0	T	4118407	G	T	4118407	3	4	112	1	0	0	0	0	1	0	0	0	6498	962	34	4	1753	4	GLIS3	9	4118407	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08		4118407	137095024	204	21402											
DAPK1	1612	broad.mit.edu	37	chr9	90322049	90322049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctcccaaggatttcctcCccagccccctccacgccctg	5	7	8	21	1	0	0	0	0	0	0	4	1	4	1	8	2	1	1	8	2	1	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:90322049C>T	ENST00000469640.2	+	27	4513	c.4138C>T	c.(4138-4140)Ccc>Tcc	p.P1380S	DAPK1_ENST00000491893.1_Missense_Mutation_p.P1289S|DAPK1_ENST00000358077.5_Missense_Mutation_p.P1355S|DAPK1_ENST00000472284.1_Missense_Mutation_p.P1355S|DAPK1_ENST00000408954.3_Missense_Mutation_p.P1355S			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1355	Death.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGATTTCCTCCCCAGCCCCCT	0.632									Chronic Lymphocytic Leukemia, Familial Clustering of				18	39					0	0	0	0	T	90322049	C	T	90322049	3	4	112	1	0	0	0	0	1	0	0	0	4268	623	22	4	4161	4	DAPK1	9	90322049	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	86203642	90322049	50891382	205	21403											
RNF20	56254	broad.mit.edu	37	chr9	104302796	104302796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaacatccgtatcatcCttaaacgttatgatctggag	14	12	7	8	2	2	2	1	2	1	0	4	3	4	3	2	1	2	2	2	1	6	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:104302796C>T	ENST00000389120.3	+	4	412	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	108					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCGTATCATCCTTAAACGTTA	0.428													8	14					0	0	0	0	T	104302796	C	T	104302796	3	4	112	1	0	0	0	0	1	0	0	0	13558	681	24	4	332	4	RNF20	9	104302796	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	13980747	104302796	36910635	206	21404											
RBM18	92400	broad.mit.edu	37	chr9	125004299	125004299	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcattttcagttttgcttcaAtggcttttatctttgcagtg	6	21	7	7	0	4	0	3	0	1	0	4	0	4	0	0	1	2	4	0	1	2	8			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:125004299A>G	ENST00000417201.3	-	6	577	c.437T>C	c.(436-438)aTt>aCt	p.I146T	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	146							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						TTTTGCTTCAATGGCTTTTAT	0.413													11	6					0	0	0	0	G	125004299	A	G	125004299	3	3	112	1	0	0	0	0	1	0	0	0	13202	101	4	5	139	5	RBM18	9	125004299	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	20701503	125004299	16209132	207	21405											
OLFML2A	169611	broad.mit.edu	37	chr9	127563740	127563740	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagcaagtatggcagtgtGcagaaaagctttgcagacag	14	8	12	7	0	1	2	1	0	0	2	1	2	1	2	0	1	4	6	0	1	4	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:127563740G>T	ENST00000373580.3	+	5	717	c.717G>T	c.(715-717)gtG>gtT	p.V239V	OLFML2A_ENST00000288815.5_Silent_p.V25V	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	239										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ATGGCAGTGTGCAGAAAAGCT	0.517													43	29					2.00842e-17	3.12787e-17	1	0	T	127563740	G	T	127563740	2	4	112	1	0	0	0	0	0	0	0	1	10928	1306	46	4		4	OLFML2A	9	127563740	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	2559441	127563740	13649691	208	21406											
PFKP	5214	broad.mit.edu	37	chr10	3161029	3161029	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagatgcgcacgcacagcAtcaacgcgctgctgatcatc	11	6	9	15	4	2	2	2	1	0	1	3	2	2	2	0	0	4	5	0	0	1	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:3161029A>G	ENST00000381075.2	+	17	1698	c.1474A>G	c.(1474-1476)Atc>Gtc	p.I492V	PFKP_ENST00000381125.4_Missense_Mutation_p.I500V	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	500					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CACGCACAGCATCAACGCGCT	0.547													15	39					0	0	0	0	G	3161029	A	G	3161029	3	3	112	1	0	0	0	0	1	0	0	0	11838	217	8	5	1556	5	PFKP	10	3161029	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08		3161029	132373718	209	21407											
SLC39A12	221074	broad.mit.edu	37	chr10	18276413	18276413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcctttgacttagaatacGgctacagcacggtggctgtc	8	12	10	11	2	1	2	0	1	1	1	3	2	1	2	1	3	3	3	1	3	4	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:18276413G>T	ENST00000377369.2	+	7	1375	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C	SLC39A12_ENST00000539911.1_Missense_Mutation_p.G234C|SLC39A12_ENST00000377374.4_Missense_Mutation_p.G368C|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G368C	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	368					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CTTAGAATACGGCTACAGCAC	0.522													14	30					1.05317e-09	1.45002e-09	1	0	T	18276413	G	T	18276413	3	4	112	1	0	0	0	0	1	0	0	0	14703	1116	39	3	1124	3	SLC39A12	10	18276413	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	15115384	18276413	117258334	210	21408											
GAD2	2572	broad.mit.edu	37	chr10	26507984	26507984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttagacctgctgccggCgtgtgatggagaaaggccca	8	10	13	10	2	1	3	0	1	1	2	1	4	1	3	3	3	2	1	3	3	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:26507984C>G	ENST00000376261.3	+	4	802	c.299C>G	c.(298-300)gCg>gGg	p.A100G	GAD2_ENST00000259271.3_Missense_Mutation_p.A100G|GAD2_ENST00000376248.1_5'UTR	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	100					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.A100V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTGCTGCCGGCGTGTGATGGA	0.358													11	19					0	0	0	0	G	26507984	C	G	26507984	3	3	112	1	0	0	0	0	1	0	0	0	6228	768	27	3	313	3	GAD2	10	26507984	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	8231571	26507984	109026763	211	21409											
MAP3K8	1326	broad.mit.edu	37	chr10	30747067	30747067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattcaaccaaagcagacAtctacagcctgggggccacg	12	5	10	14	1	2	1	1	0	1	1	2	1	2	1	4	2	4	1	4	2	3	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:30747067A>G	ENST00000263056.1	+	7	1624	c.928A>G	c.(928-930)Atc>Gtc	p.I310V	MAP3K8_ENST00000542547.1_Missense_Mutation_p.I310V|MAP3K8_ENST00000375321.1_Missense_Mutation_p.I310V	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	310	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	p.I310V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CAAAGCAGACATCTACAGCCT	0.547													21	25					0	0	0	0	G	30747067	A	G	30747067	3	3	112	1	0	0	0	0	1	0	0	0	9325	217	8	5	946	5	MAP3K8	10	30747067	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	4239083	30747067	104787680	212	21410											
ITGB1	3688	broad.mit.edu	37	chr10	33196033	33196033	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtccgtagtttggattcttGaaattattaataggactctt	10	17	8	6	2	2	1	0	1	2	0	3	3	3	3	1	2	0	2	1	2	5	8			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:33196033G>C	ENST00000423113.1	-	15	2369	c.2370C>G	c.(2368-2370)ttC>ttG	p.F790L	ITGB1_ENST00000396033.2_Intron|ITGB1_ENST00000374956.4_Intron|ITGB1_ENST00000302278.3_Intron	NM_033668.2	NP_391988.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	790					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTGGATTCTTGAAATTATTAA	0.313													22	46					0	0	0	0	C	33196033	G	C	33196033	3	2	112	1	0	0	0	0	1	0	0	0	7943	1281	45	2	229	2	ITGB1	10	33196033	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	2448966	33196033	102338714	213	21411											
NRP1	8829	broad.mit.edu	37	chr10	33502571	33502571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatccagtttctgtcccCttggttggatgatgtgatct	6	15	11	9	0	2	2	0	2	2	0	4	3	4	3	3	3	0	3	3	3	0	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:33502571C>T	ENST00000265371.4	-	10	1882	c.1357G>A	c.(1357-1359)Ggg>Agg	p.G453R	NRP1_ENST00000374822.4_Missense_Mutation_p.G453R|NRP1_ENST00000374821.5_Missense_Mutation_p.G453R|NRP1_ENST00000374867.2_Missense_Mutation_p.G453R|NRP1_ENST00000374816.3_Missense_Mutation_p.G453R|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000395995.1_Missense_Mutation_p.G453R|NRP1_ENST00000374823.5_Missense_Mutation_p.G453R			O14786	NRP1_HUMAN	neuropilin 1	453	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTTCTGTCCCCTTGGTTGGAT	0.488													22	56					0	0	0	0	T	33502571	C	T	33502571	3	4	112	1	0	0	0	0	1	0	0	0	10731	681	24	4	1461	4	NRP1	10	33502571	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	306538	33502571	102032176	214	21412											
SYT15	83849	broad.mit.edu	37	chr10	46967545	46967545	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggggctgcaggtctccgAgggggcttgcaggtgctgtg	4	8	20	9	1	1	0	0	0	1	0	2	1	1	0	1	6	3	5	1	6	0	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:46967545A>G	ENST00000374323.3	-	3	1278	c.691T>C	c.(691-693)Tcg>Ccg	p.S231P	SYT15_ENST00000503753.1_Missense_Mutation_p.S178P|SYT15_ENST00000374321.4_Missense_Mutation_p.S178P|SYT15_ENST00000374325.3_Missense_Mutation_p.S178P			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	178	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CAGGTCTCCGAGGGGGCTTGC	0.627													12	41					0	0	0	0	G	46967545	A	G	46967545	3	3	112	1	0	0	0	0	1	0	0	0	15562	304	11	5	807	5	SYT15	10	46967545	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	13464974	46967545	88567202	215	21413											
PCDH15	65217	broad.mit.edu	37	chr10	55581663	55581663	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgtttttcagttccctcGacaatattgttcaaactccc	9	16	5	11	1	2	0	2	0	0	0	5	2	4	0	2	0	1	3	2	0	3	7			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:55581663G>T	ENST00000361849.3	-	34	6223	c.5829C>A	c.(5827-5829)gtC>gtA	p.V1943V	PCDH15_ENST00000437009.1_Silent_p.V1872V|PCDH15_ENST00000395433.1_Silent_p.V1918V|PCDH15_ENST00000395432.2_Silent_p.V1901V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Silent_p.V795V|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Silent_p.V1941V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.V1938V|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1941					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGTTCCCTCGACAATATTGT	0.363										HNSCC(58;0.16)			11	25					0.000673444	0.000749147	1	0	T	55581663	G	T	55581663	2	4	112	1	0	0	0	0	0	0	0	1	11582	1045	37	3		3	PCDH15	10	55581663	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	8614118	55581663	79953084	216	21414											
BICC1	80114	broad.mit.edu	37	chr10	60558321	60558321	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taatacttcaagtgccacagGtcagtatcatttaagtatat	14	14	6	7	0	3	0	3	0	0	0	3	0	3	0	1	1	2	2	1	1	7	8			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:60558321G>A	ENST00000373886.3	+	11	1532		c.e11+1		BICC1_ENST00000263103.1_Splice_Site	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)						multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGTGCCACAGGTCAGTATCAT	0.398													14	39					0	0	0	0	A	60558321	G	A	60558321	5	1	112	1	0	0	0	0	0	0	1	0	1432	1275	44	4	1571	4	BICC1	10	60558321	Splice_Site	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	4976658	60558321	74976426	217	21415											
FAM13C	220965	broad.mit.edu	37	chr10	61007384	61007384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcctgaacctcaaatagttTtggccacatcttgcttgctg	8	15	7	11	0	2	1	1	1	1	0	3	1	3	1	3	1	3	3	3	1	3	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:61007384T>C	ENST00000373867.3	-	15	1961	c.1496A>G	c.(1495-1497)aAa>aGa	p.K499R	FAM13C_ENST00000468840.2_Missense_Mutation_p.K500R|FAM13C_ENST00000373868.2_Missense_Mutation_p.K583R|FAM13C_ENST00000442566.3_Missense_Mutation_p.K604R|FAM13C_ENST00000277705.6_Missense_Mutation_p.K603R|PHYHIPL_ENST00000373880.4_3'UTR|FAM13C_ENST00000419214.2_Missense_Mutation_p.K485R|PHYHIPL_ENST00000373878.3_3'UTR	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	583										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						TCAAATAGTTTTGGCCACATC	0.363													23	47					0	0	0	0	C	61007384	T	C	61007384	3	2	112	1	0	0	0	0	1	0	0	0	5495	1841	64	5	13	5	FAM13C	10	61007384	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	449063	61007384	74527363	218	21416											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070805	81070805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggctcctcctcctcctccttCccagcctccccggcagccgc	2	8	7	24	2	0	0	0	0	0	0	7	0	7	0	10	2	2	2	10	2	0	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:81070805C>T	ENST00000334512.5	+	24	3532	c.2960C>T	c.(2959-2961)tCc>tTc	p.S987F	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	987	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCTCCTCCTTCCCAGCCTCCC	0.647													45	127					0	0	0	0	T	81070805	C	T	81070805	3	4	112	1	0	0	0	0	1	0	0	0	17791	855	30	2	3038	2	ZMIZ1	10	81070805	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	20063421	81070805	54463942	219	21417											
TSPAN14	81619	broad.mit.edu	37	chr10	82271934	82271934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcatatggccctgaagactGggacctcaacgtctacttca	10	9	9	13	2	3	2	2	1	1	1	3	3	3	3	2	2	2	1	2	2	4	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:82271934G>T	ENST00000429989.2	+	6	708	c.485G>T	c.(484-486)tGg>tTg	p.W162L	TSPAN14_ENST00000341863.6_Missense_Mutation_p.W105L|TSPAN14_ENST00000481124.1_Missense_Mutation_p.W39L|TSPAN14_ENST00000372158.1_Missense_Mutation_p.W162L|TSPAN14_ENST00000372164.3_Missense_Mutation_p.W145L|TSPAN14_ENST00000372156.1_Missense_Mutation_p.W162L	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	162						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CCTGAAGACTGGGACCTCAAC	0.597													12	27					2.27111e-07	2.90776e-07	1	0	T	82271934	G	T	82271934	3	4	112	1	0	0	0	0	1	0	0	0	16733	1357	47	4	503	4	TSPAN14	10	82271934	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1201129	82271934	53262813	220	21418											
GRID1	2894	broad.mit.edu	37	chr10	87487645	87487645	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccgatcatcccgttccaGgaggtgttatggagctggtg	6	11	13	11	2	1	0	1	0	0	0	4	3	4	2	4	4	1	3	4	4	1	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:87487645G>A	ENST00000327946.7	-	10	1585	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	GRID1_ENST00000536331.1_Silent_p.S71S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	500						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCCCGTTCCAGGAGGTGTTAT	0.537										Multiple Myeloma(13;0.14)			17	33					0	0	0	0	A	87487645	G	A	87487645	2	1	112	1	0	0	0	0	0	0	0	1	6821	987	35	4		4	GRID1	10	87487645	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	5215711	87487645	48047102	221	21419											
HTR7	3363	broad.mit.edu	37	chr10	92617225	92617225	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctgttccccacagccGgaggcattgtccgggggcgc	5	9	14	13	3	1	1	0	1	1	0	3	2	3	2	4	4	1	2	4	4	0	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:92617225G>T	ENST00000371721.3	-	1	446	c.204C>A	c.(202-204)tcC>tcA	p.S68S	HTR7_ENST00000371719.2_Silent_p.S68S|HTR7_ENST00000336152.3_Silent_p.S68S|HTR7_ENST00000277874.6_Silent_p.S68S			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	68					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CCCCACAGCCGGAGGCATTGT	0.687													16	34					1.5739e-10	2.225e-10	1	0	T	92617225	G	T	92617225	2	4	112	1	0	0	0	0	0	0	0	1	7505	1103	39	3		3	HTR7	10	92617225	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	5129580	92617225	42917522	222	21420											
EXOC6	54536	broad.mit.edu	37	chr10	94715404	94715404	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatcttgaggactttataaCtaacattacaaatatttccc	15	15	3	8	0	1	1	0	1	1	0	2	2	2	2	1	1	3	0	1	1	7	9			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:94715404C>G	ENST00000371552.4	+	17	1720	c.1691C>G	c.(1690-1692)aCt>aGt	p.T564S	EXOC6_ENST00000443748.2_Missense_Mutation_p.T466S|EXOC6_ENST00000371547.4_Missense_Mutation_p.T585S|EXOC6_ENST00000260762.6_Missense_Mutation_p.T569S	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	569					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GACTTTATAACTAACATTACA	0.303													7	11					0	0	0	0	G	94715404	C	G	94715404	3	3	112	1	0	0	0	0	1	0	0	0	5345	565	20	4	1862	4	EXOC6	10	94715404	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	2098179	94715404	40819343	223	21421											
GBF1	8729	broad.mit.edu	37	chr10	104123467	104123467	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcttcctactcctagCtgacaaaaagtttgcccgga	9	12	6	14	1	2	1	0	1	2	0	4	2	4	2	4	1	3	2	4	1	4	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:104123467C>G	ENST00000369983.3	+	17	2275	c.2014_splice	c.e17-1	p.A672_splice		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	672					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)		CTACTCCTAGCTGACAAAAAG	0.423													18	53					0	0	0	0	G	104123467	C	G	104123467	5	3	112	1	0	0	0	0	0	0	1	0	6320	811	28	4	2077	4	GBF1	10	104123467	Splice_Site	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	9408063	104123467	31411280	224	21422											
GFRA1	2674	broad.mit.edu	37	chr10	117885064	117885064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttccctttgggaatgtgCtccactgcaaatgcagagaa	10	12	10	9	0	0	1	0	0	0	1	2	3	2	2	2	1	3	4	2	1	3	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:117885064C>A	ENST00000439649.3	-	5	790	c.423G>T	c.(421-423)gaG>gaT	p.E141D	GFRA1_ENST00000544592.1_Missense_Mutation_p.E25D|GFRA1_ENST00000355422.6_Missense_Mutation_p.E146D|GFRA1_ENST00000369236.1_Missense_Mutation_p.E141D	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	146					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGGGAATGTGCTCCACTGCAA	0.512													6	6					3.59834e-05	4.23072e-05	1	0	A	117885064	C	A	117885064	3	1	112	1	0	0	0	0	1	0	0	0	6398	796	28	4	983	4	GFRA1	10	117885064	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	13761597	117885064	17649683	225	21423											
GPR26	2849	broad.mit.edu	37	chr10	125426259	125426259	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggccgtggtcttcccgctGagctaccgggccaagatgcg	5	8	15	13	4	1	2	0	1	1	1	2	2	2	2	4	3	3	2	4	3	2	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:125426259G>A	ENST00000284674.1	+	1	389	c.336G>A	c.(334-336)ctG>ctA	p.L112L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	112					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TCTTCCCGCTGAGCTACCGGG	0.701													10	17					0	0	0	0	A	125426259	G	A	125426259	2	1	112	1	0	0	0	0	0	0	0	1	6733	1277	45	2		2	GPR26	10	125426259	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	7541195	125426259	10108488	226	21424											
KRTAP5-2	440021	broad.mit.edu	37	chr11	1619393	1619393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccacggccggagccacagcCcccacagccagagccacaac	11	0	9	21	2	0	1	0	0	0	1	0	2	0	2	7	2	5	0	7	2	1	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:1619393C>T	ENST00000412090.1	-	1	131	c.88G>A	c.(88-90)Ggc>Agc	p.G30S	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	30						keratin filament		p.G30S(1)		large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAGCCACAGCCCCCACAGCCA	0.672													56	104					0	0	0	0	T	1619393	C	T	1619393	3	4	112	1	0	0	0	0	1	0	0	0	8614	623	22	4	449	4	KRTAP5-2	11	1619393	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08		1619393	133387123	227	21425											
OR52L1	338751	broad.mit.edu	37	chr11	6007754	6007754	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatagcaatccagagccAtggccacaagtacccctgac	13	6	7	15	0	0	2	0	1	0	1	1	2	1	2	5	1	4	2	5	1	5	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:6007754A>T	ENST00000332249.4	-	1	461	c.407T>A	c.(406-408)aTg>aAg	p.M136K		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCAGAGCCATGGCCACAAG	0.537													3	11					0	0	0	0	T	6007754	A	T	6007754	3	4	112	1	0	0	0	0	1	0	0	0	11196	217	8	5	586	5	OR52L1	11	6007754	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	4388361	6007754	128998762	228	21426											
ZNF215	7762	broad.mit.edu	37	chr11	6977139	6977139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaataagaaaagctttGatattaattcagttagctca	17	13	7	4	0	2	3	2	2	0	1	2	3	2	3	0	0	2	3	0	0	8	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:6977139G>T	ENST00000278319.5	+	7	1519	c.931G>T	c.(931-933)Gat>Tat	p.D311Y	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.D311Y	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	311					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GAAAAGCTTTGATATTAATTC	0.323													12	24					1.08611e-07	1.40957e-07	1	0	T	6977139	G	T	6977139	3	4	112	1	0	0	0	0	1	0	0	0	17866	1290	45	2	949	2	ZNF215	11	6977139	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	969385	6977139	128029377	229	21427											
USH1C	10083	broad.mit.edu	37	chr11	17531213	17531213	+	Frame_Shift_Del	DEL	G	G	-																															tgtggggtgggttggagggtGgagggtggggcatcacaggc																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:17531213delG	ENST00000005226.7	-	18	1702	c.1703delC	c.(1702-1704)cafs	p.P569fs	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GTTGGAGGGTGGAGGGTGGGG	0.627													7	8	---	---	---	---					-	17531213	G	-	17531213	7	5	112	1	0	1	0	1	0	0	0	0	17130	1348	47	0	1036	0	USH1C	11	17531213	Frame_Shift_Del	DEL	G	TCGA-CN-A497-01A-11D-A24D-08	10554074	17531213	117475303	230	21428											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195471	18195471	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatcctgctcacagtgcTggtcttcctcctctgcggcc	4	11	9	17	1	3	0	1	0	2	0	6	1	6	0	5	2	3	2	5	2	0	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:18195471T>A	ENST00000314254.3	+	1	1088	c.668T>A	c.(667-669)cTg>cAg	p.L223Q	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	223						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTCACAGTGCTGGTCTTCCTC	0.537													15	30					0	0	0	0	A	18195471	T	A	18195471	3	1	112	1	0	0	0	0	1	0	0	0	9839	1580	55	5	670	5	MRGPRX4	11	18195471	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	664258	18195471	116811045	231	21429											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955940	18955940	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgtggggcggtggcagCggtaccagatgggccacagg	6	6	21	8	2	0	1	0	0	0	1	0	1	0	1	2	8	2	2	2	8	1	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:18955940C>G	ENST00000302797.3	-	1	616	c.392G>C	c.(391-393)cGc>cCc	p.R131P	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	131					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCGGTGGCAGCGGTACCAGAT	0.607													34	58					0	0	0	0	G	18955940	C	G	18955940	3	3	112	1	0	0	0	0	1	0	0	0	9836	768	27	3	580	3	MRGPRX1	11	18955940	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	760469	18955940	116050576	232	21430											
SLC6A5	9152	broad.mit.edu	37	chr11	20648340	20648340	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgcctggagctggagctggGatctggtacttcatcacacc	7	10	12	12	0	3	0	2	0	1	0	3	3	3	3	2	4	4	3	2	4	1	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:20648340G>C	ENST00000525748.1	+	8	1620	c.1347G>C	c.(1345-1347)ggG>ggC	p.G449G		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	449					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTGGAGCTGGGATCTGGTACT	0.557													12	42					0	0	0	0	C	20648340	G	C	20648340	2	2	112	1	0	0	0	0	0	0	0	1	14775	1161	41	2		2	SLC6A5	11	20648340	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1692400	20648340	114358176	233	21431											
ANO5	203859	broad.mit.edu	37	chr11	22277028	22277028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgagaccagaatttgAagctatgtgtaaacacagga	15	9	10	7	0	1	3	1	2	0	2	1	5	1	4	1	1	3	3	1	1	5	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:22277028A>G	ENST00000324559.8	+	13	1609	c.1292A>G	c.(1291-1293)gAa>gGa	p.E431G		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	431						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCAGAATTTGAAGCTATGTGT	0.433													18	42					0	0	0	0	G	22277028	A	G	22277028	3	3	112	1	0	0	0	0	1	0	0	0	699	246	9	5	1342	5	ANO5	11	22277028	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	1628688	22277028	112729488	234	21432											
SLC5A12	159963	broad.mit.edu	37	chr11	26725436	26725436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatgagaaccgttaagaagCccacaatcatgacaaccatc	17	6	7	11	1	1	3	1	2	0	2	2	5	1	3	3	0	3	1	3	0	6	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:26725436C>A	ENST00000396005.3	-	5	893	c.584G>T	c.(583-585)gGc>gTc	p.G195V	SLC5A12_ENST00000280467.6_Missense_Mutation_p.G195V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	195					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CGTTAAGAAGCCCACAATCAT	0.403													26	60					7.92952e-12	1.14833e-11	1	0	A	26725436	C	A	26725436	3	1	112	1	0	0	0	0	1	0	0	0	14752	739	26	4	1316	4	SLC5A12	11	26725436	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	4448408	26725436	108281080	235	21433											
WT1	7490	broad.mit.edu	37	chr11	32413565	32413565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttcaggtggtcggacCgggagaactttcgctgacaa	8	9	15	9	3	2	2	1	1	1	1	4	4	2	3	1	5	1	1	1	5	2	2	rs121907903		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:32413565C>A	ENST00000332351.3	-	9	1669	c.1385G>T	c.(1384-1386)cGg>cTg	p.R462L	WT1_ENST00000379079.2_Missense_Mutation_p.R250L|WT1_ENST00000530998.1_Missense_Mutation_p.R233L|WT1_ENST00000448076.3_Missense_Mutation_p.R462L	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	394					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R394Q(6)|p.R394P(6)|p.R250L(1)|p.V380_S410del(1)|p.R394L(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTGGTCGGACCGGGAGAACTT	0.433			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				28	75					2.12542e-12	3.10638e-12	1	0	A	32413565	C	A	32413565	3	1	112	1	0	0	0	0	1	0	0	0	17504	652	23	3	176	3	WT1	11	32413565	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	5688129	32413565	102592951	236	21434											
CSTF3	1479	broad.mit.edu	37	chr11	33106683	33106683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtaaatgtcatgaacaggggGgacaacggctcccttttctt	10	11	11	9	1	2	1	1	1	1	0	3	2	3	2	1	4	2	2	1	4	4	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:33106683G>A	ENST00000323959.4	-	21	2243	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S	TCP11L1_ENST00000324357.9_3'UTR	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	702					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGAACAGGGGGGACAACGGCT	0.517													12	32					0	0	0	0	A	33106683	G	A	33106683	3	1	112	1	0	0	0	0	1	0	0	0	4018	1232	43	4	53	4	CSTF3	11	33106683	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	693118	33106683	101899833	237	21435											
OR5T2	219464	broad.mit.edu	37	chr11	56000229	56000229	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcattctgtggttccaaaacTacaagcaagaaacacctgtg	14	9	8	10	0	1	1	0	0	1	1	2	1	2	1	2	1	4	3	2	1	6	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:56000229T>A	ENST00000313264.4	-	1	508	c.433A>T	c.(433-435)Agt>Tgt	p.S145C		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GTTCCAAAACTACAAGCAAGA	0.408													21	31					0	0	0	0	A	56000229	T	A	56000229	3	1	112	1	0	0	0	0	1	0	0	0	11253	1522	53	5	645	5	OR5T2	11	56000229	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	22893546	56000229	79006287	238	21436											
OR8H1	219469	broad.mit.edu	37	chr11	56058244	56058244	+	Frame_Shift_Del	DEL	G	G	-																															gaagacaaaaaagaacatctGggcaaagcagcccatgaagg																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:56058244delG	ENST00000313022.2	-	1	322	c.295delC	c.(295-297)agfs	p.Q99fs		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AAGAACATCTGGGCAAAGCAG	0.428													29	107	---	---	---	---					-	56058244	G	-	56058244	7	5	112	1	0	1	0	1	0	0	0	0	11308	1357	47	0	642	0	OR8H1	11	56058244	Frame_Shift_Del	DEL	G	TCGA-CN-A497-01A-11D-A24D-08	58015	56058244	78948272	239	21437											
OR5M3	219482	broad.mit.edu	37	chr11	56237967	56237967	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtcacatcggtgaaatTgagcattttctgaattctaa	11	15	7	8	1	4	3	1	3	3	0	5	3	4	3	0	1	1	1	0	1	3	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:56237967T>A	ENST00000312240.2	-	1	47	c.7A>T	c.(7-9)Aat>Tat	p.N3Y		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TCGGTGAAATTGAGCATTTTC	0.313													8	22					0	0	0	0	A	56237967	T	A	56237967	3	1	112	1	0	0	0	0	1	0	0	0	11246	1812	63	5	918	5	OR5M3	11	56237967	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	179723	56237967	78768549	240	21438											
OR5M11	219487	broad.mit.edu	37	chr11	56309893	56309893	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggattaagtaccggacTcacaaaggtgtaaaagacag	17	7	10	7	1	1	1	1	0	0	1	1	3	1	3	1	3	1	2	1	3	6	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:56309893T>A	ENST00000528616.2	-	1	864	c.841A>T	c.(841-843)Agt>Tgt	p.S281C		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGTACCGGACTCACAAAGGTG	0.388													8	22					0	0	0	0	A	56309893	T	A	56309893	3	1	112	1	0	0	0	0	1	0	0	0	11245	1551	54	5	79	5	OR5M11	11	56309893	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	71926	56309893	78696623	241	21439											
OR5AN1	390195	broad.mit.edu	37	chr11	59132570	59132570	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgggatagcaagtgccctAgttatcatgatatcctatgg	10	14	10	7	0	1	1	1	1	0	0	2	2	2	2	2	2	2	2	2	2	6	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:59132570A>G	ENST00000313940.2	+	1	686	c.639A>G	c.(637-639)ctA>ctG	p.L213L		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CAAGTGCCCTAGTTATCATGA	0.423													23	40					0	0	0	0	G	59132570	A	G	59132570	2	3	112	1	0	0	0	0	0	0	0	1	11214	407	15	5		5	OR5AN1	11	59132570	Silent	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	2822677	59132570	75873946	242	21440											
SCGB1D1	10648	broad.mit.edu	37	chr11	61959555	61959555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtggtctgccaagctcttgGttctgaaatcacaggcttct	8	13	10	10	0	5	1	1	1	4	0	5	1	5	1	1	3	2	3	1	3	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:61959555G>A	ENST00000306238.3	+	2	152	c.83G>A	c.(82-84)gGt>gAt	p.G28D		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	28						extracellular space	binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						CAAGCTCTTGGTTCTGAAATC	0.428													10	19					0	0	0	0	A	61959555	G	A	61959555	3	1	112	1	0	0	0	0	1	0	0	0	13982	1261	44	4	89	4	SCGB1D1	11	61959555	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	2826985	61959555	73046961	243	21441											
TM7SF2	7108	broad.mit.edu	37	chr11	64880758	64880758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcagcggggctgcctctggGggcgctcccggaaatgctcc	4	7	16	14	3	2	0	1	0	1	0	4	1	4	1	3	5	3	3	3	5	1	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:64880758G>T	ENST00000279263.7	+	4	533	c.371G>T	c.(370-372)gGg>gTg	p.G124V	TM7SF2_ENST00000540748.1_Missense_Mutation_p.G8V|TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000345348.5_Missense_Mutation_p.G124V	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	124					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGCCTCTGGGGGCGCTCCCG	0.642											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	27					5.50884e-06	6.65826e-06	1	0	T	64880758	G	T	64880758	3	4	112	1	0	0	0	0	1	0	0	0	16068	1232	43	4	385	4	TM7SF2	11	64880758	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	2921203	64880758	70125758	244	21442											
KRTAP5-11	440051	broad.mit.edu	37	chr11	71293705	71293705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccctttggagcccccaCaggagccacagctggagcag	9	4	12	16	0	0	0	0	0	0	0	0	3	0	3	5	3	5	2	5	3	0	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:71293705C>T	ENST00000398530.1	-	1	216	c.179G>A	c.(178-180)tGt>tAt	p.C60Y	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	60	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGAGCCCCCACAGGAGCCACA	0.637													70	162					0	0	0	0	T	71293705	C	T	71293705	3	4	112	1	0	0	0	0	1	0	0	0	8613	478	17	4	295	4	KRTAP5-11	11	71293705	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	6412947	71293705	63712811	245	21443											
SESN3	143686	broad.mit.edu	37	chr11	94924659	94924659	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaaagactccaggtacTgagtgtgtaaactcatgacc	14	8	10	9	0	1	4	1	2	0	2	2	4	2	4	2	1	2	3	2	1	5	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:94924659T>G	ENST00000536441.1	-	3	587	c.251A>C	c.(250-252)cAg>cCg	p.Q84P	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.Q84P|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.Q6P|SESN3_ENST00000416495.2_Missense_Mutation_p.Q84P	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	84					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		CTCCAGGTACTGAGTGTGTAA	0.463													19	39					0	0	0	0	G	94924659	T	G	94924659	3	3	112	1	0	0	0	0	1	0	0	0	14213	1580	55	5	1259	5	SESN3	11	94924659	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	23630954	94924659	40081857	246	21444											
GUCY1A2	2977	broad.mit.edu	37	chr11	106849364	106849364	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtatattagcagtacaCtgaagaattcctgagacatc	14	10	8	9	1	0	3	0	2	0	2	2	5	1	3	2	0	2	3	2	0	6	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:106849364C>G	ENST00000526355.1	-	3	936	c.468G>C	c.(466-468)caG>caC	p.Q156H	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.Q156H|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.Q156H	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	156					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TAGCAGTACACTGAAGAATTC	0.368													4	17					0	0	0	0	G	106849364	C	G	106849364	3	3	112	1	0	0	0	0	1	0	0	0	6943	564	20	4	1754	4	GUCY1A2	11	106849364	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	11924705	106849364	28157152	247	21445											
PHLDB1	23187	broad.mit.edu	37	chr11	118495765	118495765	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccctgggcccccctacagCcctgttcctggtaggtaccg	4	8	11	18	1	0	0	0	0	0	0	1	0	1	0	8	3	3	3	8	3	3	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:118495765C>G	ENST00000361417.2	+	6	882	c.471C>G	c.(469-471)agC>agG	p.S157R	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S157R	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	157										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCCCTACAGCCCTGTTCCTG	0.602													18	46					0	0	0	0	G	118495765	C	G	118495765	3	3	112	1	0	0	0	0	1	0	0	0	11923	738	26	4	485	4	PHLDB1	11	118495765	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	11646401	118495765	16510751	248	21446											
TECTA	7007	broad.mit.edu	37	chr11	121016587	121016587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgctgtccgtcctgtgcCaaggtggaaggtttctccaa	7	10	12	12	2	1	0	0	0	1	0	4	2	3	1	5	3	1	2	5	3	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:121016587C>T	ENST00000392793.1	+	12	4138	c.3867C>T	c.(3865-3867)gcC>gcT	p.A1289A	TECTA_ENST00000264037.2_Silent_p.A1289A|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1289	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGTCCTGTGCCAAGGTGGAAG	0.572													17	52					0	0	0	0	T	121016587	C	T	121016587	2	4	112	1	0	0	0	0	0	0	0	1	15841	581	21	4		4	TECTA	11	121016587	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	2520822	121016587	13989929	249	21447											
BARX2	8538	broad.mit.edu	37	chr11	129245990	129245990	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagctcaaagcagccaggcgGcgctacaagactttcatgat	12	7	10	12	2	2	2	2	1	0	1	2	2	2	2	1	2	4	3	1	2	3	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:129245990G>A	ENST00000281437.4	+	1	156	c.60G>A	c.(58-60)cgG>cgA	p.R20R		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	20										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CAGCCAGGCGGCGCTACAAGA	0.647											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	54					0	0	0	0	A	129245990	G	A	129245990	2	1	112	1	0	0	0	0	0	0	0	1	1320	1190	42	4		4	BARX2	11	129245990	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	8229403	129245990	5760526	250	21448											
B4GALNT3	283358	broad.mit.edu	37	chr12	661643	661643	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcctgcaggttcagctttCaggagtacatcaagattgac	10	11	9	11	0	3	2	3	1	0	1	4	3	4	3	2	2	3	4	2	2	2	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:661643C>T	ENST00000266383.5	+	13	1232	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	407						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)			GTTCAGCTTTCAGGAGTACAT	0.602													60	27					0	0	0	0	T	661643	C	T	661643	4	4	112	1	0	0	0	0	0	1	0	0	1272	827	29	2	1269	2	B4GALNT3	12	661643	Nonsense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08		661643	133190252	251	21449											
DCP1B	196513	broad.mit.edu	37	chr12	2113530	2113530	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgatataggggtcgtggCgctgcagggccgctaggctg	5	9	19	8	3	0	1	0	1	0	0	1	1	0	1	1	6	1	5	1	6	3	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:2113530C>A	ENST00000280665.6	-	1	147	c.68G>T	c.(67-69)cGc>cTc	p.R23L	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	23					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GGGGTCGTGGCGCTGCAGGGC	0.692													88	33					3.3814e-41	5.5964e-41	1	0	A	2113530	C	A	2113530	3	1	112	1	0	0	0	0	1	0	0	0	4331	768	27	3	1821	3	DCP1B	12	2113530	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	1451887	2113530	131738365	252	21450											
CD163	9332	broad.mit.edu	37	chr12	7635998	7635998	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtcttccttgtgcccaCactcactatggccccagcgt	6	10	8	17	2	2	0	1	0	1	0	3	0	3	0	4	1	3	0	4	1	1	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:7635998C>G	ENST00000359156.4	-	12	3255	c.3053G>C	c.(3052-3054)tGt>tCt	p.C1018S	CD163_ENST00000432237.2_Missense_Mutation_p.C1018S|CD163_ENST00000396620.3_Missense_Mutation_p.C1051S|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.C1006S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1018	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTTGTGCCCACACTCACTATG	0.542													42	23					0	0	0	0	G	7635998	C	G	7635998	3	3	112	1	0	0	0	0	1	0	0	0	2996	478	17	4	437	4	CD163	12	7635998	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	5522468	7635998	126215897	253	21451											
TAS2R8	50836	broad.mit.edu	37	chr12	10958928	10958928	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctctactgccggtagcatAgagttttatttgcttggtat	7	17	10	7	1	1	1	0	0	1	1	2	1	1	1	1	2	4	5	1	2	5	8			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:10958928A>G	ENST00000240615.2	-	1	964	c.652T>C	c.(652-654)Tat>Cat	p.Y218H		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	218					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCGGTAGCATAGAGTTTTATT	0.343													5	56					0	0	0	0	G	10958928	A	G	10958928	3	3	112	1	0	0	0	0	1	0	0	0	15678	420	15	5	280	5	TAS2R8	12	10958928	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	3322930	10958928	122892967	254	21452											
C12orf60	144608	broad.mit.edu	37	chr12	14975882	14975882	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagaaatgtcttcagagTcagaaaaggataaagagaga	18	8	12	3	0	3	5	2	0	1	5	3	8	3	6	0	2	0	0	0	2	5	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:14975882T>A	ENST00000330828.2	+	2	217	c.13T>A	c.(13-15)Tca>Aca	p.S5T	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	5										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GTCTTCAGAGTCAGAAAAGGA	0.353													31	18					0	0	0	0	A	14975882	T	A	14975882	3	1	112	1	0	0	0	0	1	0	0	0	1715	1667	58	5	15	5	C12orf60	12	14975882	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	4016954	14975882	118876013	255	21453											
ERP27	121506	broad.mit.edu	37	chr12	15090986	15090986	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcagcaccaggaccaTctagagagagaagcagaaga	15	3	13	10	0	1	4	0	0	1	4	1	7	1	5	3	2	2	3	3	2	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:15090986T>C	ENST00000266397.2	-	2	668	c.94_splice	c.e2-1	p.D32_splice		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	32						endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						ACCAGGACCATCTAGAGAGAG	0.498													23	94					0	0	0	0	C	15090986	T	C	15090986	5	2	112	1	0	0	0	0	0	0	1	0	5279	1449	50	5	750	5	ERP27	12	15090986	Splice_Site	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	115104	15090986	118760909	256	21454											
PLEKHA5	54477	broad.mit.edu	37	chr12	19427863	19427863	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaattcaatgcagcagtTggaacagtggattaaaatcc	17	9	8	7	0	1	0	1	0	0	0	2	2	2	2	1	2	4	3	1	2	6	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:19427863T>A	ENST00000538714.1	+	10	1245	c.1241T>A	c.(1240-1242)tTg>tAg	p.L414*	PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.L420*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.L172*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.L306*|PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.L306*	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	414							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATGCAGCAGTTGGAACAGTGG	0.473													10	77					0	0	0	0	A	19427863	T	A	19427863	4	1	112	1	0	0	0	0	0	1	0	0	12131	1821	63	5	1279	5	PLEKHA5	12	19427863	Nonsense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	4336877	19427863	114424032	257	21455											
SLCO1B1	10599	broad.mit.edu	37	chr12	21377744	21377744	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtggcacacgtgggtcAtgtaggacatataattccac	12	10	10	9	1	1	0	1	0	0	0	2	1	2	1	1	3	1	2	1	3	4	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:21377744A>T	ENST00000256958.2	+	14	1932	c.1836A>T	c.(1834-1836)tcA>tcT	p.S612S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	612					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CACGTGGGTCATGTAGGACAT	0.328													11	100					0	0	0	0	T	21377744	A	T	21377744	2	4	112	1	0	0	0	0	0	0	0	1	14811	204	8	5		5	SLCO1B1	12	21377744	Silent	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	1949881	21377744	112474151	258	21456											
SLCO1A2	6579	broad.mit.edu	37	chr12	21447035	21447035	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattttccacatataaatcTtgtggaattctgaagtgatt	12	17	6	6	0	3	2	1	2	2	0	4	3	4	3	1	1	0	0	1	1	5	7			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:21447035T>A	ENST00000307378.6	-	12	2001	c.1281A>T	c.(1279-1281)caA>caT	p.Q427H	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.Q425H|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.Q295H|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.Q427H|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.Q295H	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	427					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CATATAAATCTTGTGGAATTC	0.343													31	9					0	0	0	0	A	21447035	T	A	21447035	3	1	112	1	0	0	0	0	1	0	0	0	14810	1606	56	5	751	5	SLCO1A2	12	21447035	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	69291	21447035	112404860	259	21457											
BHLHE41	79365	broad.mit.edu	37	chr12	26277471	26277471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtgtcgtctcgtttcAtgctccttttgggtttacac	3	18	9	11	2	2	0	1	0	1	0	5	0	3	0	2	2	2	3	2	2	1	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:26277471A>G	ENST00000242728.4	-	2	454	c.107T>C	c.(106-108)aTg>aCg	p.M36T		NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	36					cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						GTCTCGTTTCATGCTCCTTTT	0.478													16	31					0	0	0	0	G	26277471	A	G	26277471	3	3	112	1	0	0	0	0	1	0	0	0	1429	217	8	5	1357	5	BHLHE41	12	26277471	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	4830436	26277471	107574424	260	21458											
ADAMTS20	80070	broad.mit.edu	37	chr12	43769917	43769917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaccagtgttaaatattccTtagggttctccaagtacatg	11	13	9	8	0	1	0	0	0	1	0	3	1	2	1	3	2	1	3	3	2	6	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:43769917T>C	ENST00000389420.3	-	35	5254	c.5255A>G	c.(5254-5256)aAg>aGg	p.K1752R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1752	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAAATATTCCTTAGGGTTCTC	0.328													2	3					0	0	0	0	C	43769917	T	C	43769917	3	2	112	1	0	0	0	0	1	0	0	0	266	1609	56	5	496	5	ADAMTS20	12	43769917	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	17492446	43769917	90081978	261	21459											
OR10A7	121364	broad.mit.edu	37	chr12	55615466	55615466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattttggtttcctacaccCgcattatcataacaattctg	10	16	4	11	1	3	0	2	0	1	0	4	0	4	0	2	1	2	2	2	1	4	7	rs138358769		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:55615466C>A	ENST00000326258.1	+	1	658	c.658C>A	c.(658-660)Cgc>Agc	p.R220S		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R220C(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TTCCTACACCCGCATTATCAT	0.458													14	21					4.36969e-10	6.14084e-10	1	0	A	55615466	C	A	55615466	3	1	112	1	0	0	0	0	1	0	0	0	10966	652	23	3	660	3	OR10A7	12	55615466	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	11845549	55615466	78236429	262	21460											
OR6C70	390327	broad.mit.edu	37	chr12	55863745	55863745	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagagaaattacggaggaAgaaatacattggagtcttga	19	8	11	3	1	1	3	0	1	1	2	1	7	1	6	0	3	2	0	0	3	7	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:55863745A>G	ENST00000327335.4	-	1	177	c.178T>C	c.(178-180)Ttc>Ctc	p.F60L	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TTACGGAGGAAGAAATACATT	0.393													5	12					0	0	0	0	G	55863745	A	G	55863745	3	3	112	1	0	0	0	0	1	0	0	0	11268	72	3	5	762	5	OR6C70	12	55863745	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	248279	55863745	77988150	263	21461											
BAZ2A	11176	broad.mit.edu	37	chr12	56995031	56995031	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgtttgaagaacttactGggaggtctccctctccgttt	7	15	9	10	1	3	2	0	1	3	1	5	3	3	3	2	2	2	2	2	2	3	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:56995031G>T	ENST00000179765.5	-	22	4336	c.4137C>A	c.(4135-4137)ccC>ccA	p.P1379P	BAZ2A_ENST00000551812.1_Silent_p.P1411P|BAZ2A_ENST00000549884.1_Silent_p.P1409P|BAZ2A_ENST00000379441.3_Silent_p.P1381P|BAZ2A_ENST00000553222.1_5'UTR			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1411	Pro-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGAACTTACTGGGAGGTCTCC	0.597													10	33					0.000673444	0.000749147	1	0	T	56995031	G	T	56995031	2	4	112	1	0	0	0	0	0	0	0	1	1335	1335	47	4		4	BAZ2A	12	56995031	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1131286	56995031	76856864	264	21462											
GLI1	2735	broad.mit.edu	37	chr12	57865745	57865745	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggggcagctctggacatacCccacctccctctgggccccc	5	6	10	20	1	2	0	0	0	2	0	3	1	3	1	6	4	2	2	6	4	1	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:57865745C>A	ENST00000228682.2	+	12	3313	c.3222C>A	c.(3220-3222)acC>acA	p.T1074T	GLI1_ENST00000546141.1_Silent_p.T1033T|GLI1_ENST00000543426.1_Silent_p.T946T	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1074					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTGGACATACCCCACCTCCCT	0.552													14	56					9.16793e-09	1.22325e-08	1	0	A	57865745	C	A	57865745	2	1	112	1	0	0	0	0	0	0	0	1	6488	610	22	4		4	GLI1	12	57865745	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	870714	57865745	75986150	265	21463											
GRIP1	23426	broad.mit.edu	37	chr12	66773099	66773099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagtcttcataactcagcCccacatctgggtaagtctgg	9	10	8	14	0	5	0	2	0	3	0	5	0	5	0	3	2	2	1	3	2	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:66773099C>A	ENST00000359742.4	-	20	2822	c.2582G>T	c.(2581-2583)gGg>gTg	p.G861V	GRIP1_ENST00000286445.7_Missense_Mutation_p.G861V|GRIP1_ENST00000398016.3_Missense_Mutation_p.G809V			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	861					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATAACTCAGCCCCACATCTGG	0.507													46	81					3.54909e-21	5.71464e-21	1	0	A	66773099	C	A	66773099	3	1	112	1	0	0	0	0	1	0	0	0	6837	623	22	4	828	4	GRIP1	12	66773099	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	8907354	66773099	67078796	266	21464											
PTPRB	5787	broad.mit.edu	37	chr12	71016240	71016240	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtaattccagtcatgTgcagattgggatgctgcctc	7	14	11	9	0	2	1	1	0	1	1	4	2	3	2	2	1	3	3	2	1	1	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:71016240T>C	ENST00000334414.6	-	3	682	c.638A>G	c.(637-639)cAc>cGc	p.H213R	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.H213R|PTPRB_ENST00000551525.1_Missense_Mutation_p.H212R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCAGTCATGTGCAGATTGGG	0.498													11	25					0	0	0	0	C	71016240	T	C	71016240	3	2	112	1	0	0	0	0	1	0	0	0	12878	1696	59	5	6195	5	PTPRB	12	71016240	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	4243141	71016240	62835655	267	21465											
LRRIQ1	84125	broad.mit.edu	37	chr12	85449885	85449885	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagaagcaggaagatgttctCctttggctagttgaggaatc	12	11	12	6	0	1	3	0	1	1	2	3	5	1	5	1	3	1	4	1	3	5	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:85449885C>T	ENST00000393217.2	+	8	1375	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	438										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGATGTTCTCCTTTGGCTAG	0.289													11	23					0	0	0	0	T	85449885	C	T	85449885	2	4	112	1	0	0	0	0	0	0	0	1	9093	842	30	2		2	LRRIQ1	12	85449885	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	14433645	85449885	48402010	268	21466											
MYBPC1	4604	broad.mit.edu	37	chr12	102038465	102038465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaaaaattcttgatcctGcatatcaggttgacaaagga	14	12	8	7	0	2	2	1	2	1	0	3	3	3	3	1	2	2	3	1	2	4	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:102038465G>T	ENST00000549145.1	+	11	920	c.820G>T	c.(820-822)Gca>Tca	p.A274S	MYBPC1_ENST00000361466.2_Missense_Mutation_p.A286S|MYBPC1_ENST00000553190.1_Missense_Mutation_p.A261S|MYBPC1_ENST00000550270.1_Missense_Mutation_p.A261S|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000545503.2_Missense_Mutation_p.A261S|MYBPC1_ENST00000361685.2_Missense_Mutation_p.A286S|MYBPC1_ENST00000536007.1_Missense_Mutation_p.A242S|MYBPC1_ENST00000452455.2_Missense_Mutation_p.A261S|MYBPC1_ENST00000441232.1_Missense_Mutation_p.A261S|MYBPC1_ENST00000551300.1_Missense_Mutation_p.A162S|MYBPC1_ENST00000547405.1_Missense_Mutation_p.A235S|MYBPC1_ENST00000360610.2_Missense_Mutation_p.A261S|MYBPC1_ENST00000541119.1_Missense_Mutation_p.A249S|MYBPC1_ENST00000392934.3_Missense_Mutation_p.A248S|MYBPC1_ENST00000547509.1_Missense_Mutation_p.A247S			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	261	Ig-like C2-type 2.				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						TCTTGATCCTGCATATCAGGT	0.353													10	16					0.000442599	0.00049467	1	0	T	102038465	G	T	102038465	3	4	112	1	0	0	0	0	1	0	0	0	10081	1319	46	4	902	4	MYBPC1	12	102038465	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	16588580	102038465	31813430	269	21467											
ASCL1	429	broad.mit.edu	37	chr12	103352431	103352431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgtcaagttggtcaacctgGgctttgccacccttcgggag	6	10	13	12	2	2	0	2	0	0	0	3	1	2	1	3	3	2	2	3	3	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:103352431G>T	ENST00000266744.3	+	1	968	c.409G>T	c.(409-411)Ggc>Tgc	p.G137C		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	137	Helix-loop-helix motif.				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						GGTCAACCTGGGCTTTGCCAC	0.667													13	30					4.3838e-07	5.53805e-07	1	0	T	103352431	G	T	103352431	3	4	112	1	0	0	0	0	1	0	0	0	1038	1232	43	4	411	4	ASCL1	12	103352431	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1313966	103352431	30499464	270	21468											
SLC41A2	84102	broad.mit.edu	37	chr12	105280120	105280120	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagccaatatggcaagagtTataaggtcgccaaaactagc	16	7	9	9	1	0	1	0	0	0	1	1	1	0	1	2	2	3	2	2	2	9	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:105280120T>A	ENST00000258538.3	-	5	1105	c.978A>T	c.(976-978)atA>atT	p.I326I		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	326						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TGGCAAGAGTTATAAGGTCGC	0.368													7	22					0	0	0	0	A	105280120	T	A	105280120	2	1	112	1	0	0	0	0	0	0	0	1	14718	1744	61	5		5	SLC41A2	12	105280120	Silent	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	1927689	105280120	28571775	271	21469											
NAA25	80018	broad.mit.edu	37	chr12	112481547	112481547	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcggcagtcttctccgagTtctttggctccacagggtgg	4	13	12	12	2	4	0	0	0	4	0	7	1	5	0	2	4	0	3	2	4	0	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:112481547T>A	ENST00000261745.4	-	18	2380	c.2132A>T	c.(2131-2133)aAc>aTc	p.N711I		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	711						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTTCTCCGAGTTCTTTGGCTC	0.493													16	49					0	0	0	0	A	112481547	T	A	112481547	3	1	112	1	0	0	0	0	1	0	0	0	10191	1725	60	5	814	5	NAA25	12	112481547	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	7201427	112481547	21370348	272	21470											
C12orf43	64897	broad.mit.edu	37	chr12	121454223	121454223	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgctccagctcctccgcatCgctactgctgttactacttt	5	13	6	17	3	0	0	0	0	0	0	4	0	3	0	4	0	5	6	4	0	3	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:121454223C>G	ENST00000288757.3	-	1	77	c.55G>C	c.(55-57)Gat>Cat	p.D19H	C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.D19H|C12orf43_ENST00000536407.2_Missense_Mutation_p.D19H|C12orf43_ENST00000445832.3_5'UTR	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	19										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCTCCGCATCGCTACTGCTG	0.622													27	34					0	0	0	0	G	121454223	C	G	121454223	3	3	112	1	0	0	0	0	1	0	0	0	1701	884	31	3	757	3	C12orf43	12	121454223	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	8972676	121454223	12397672	273	21471											
SLC15A4	121260	broad.mit.edu	37	chr12	129294521	129294521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagtaaggtatcaaagcCaagaaaacagggacaatctt	17	7	9	8	0	2	1	1	0	1	1	3	2	3	2	2	2	2	2	2	2	7	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:129294521C>A	ENST00000266771.5	-	3	1017	c.978G>T	c.(976-978)ttG>ttT	p.L326F	SLC15A4_ENST00000544112.1_5'UTR|SLC15A4_ENST00000539703.1_Intron	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	326					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GTATCAAAGCCAAGAAAACAG	0.393													6	27					0.0215528	0.0224017	1	0	A	129294521	C	A	129294521	3	1	112	1	0	0	0	0	1	0	0	0	14489	593	21	4	779	4	SLC15A4	12	129294521	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	7840298	129294521	4557374	274	21472											
LCP1	3936	broad.mit.edu	37	chr13	46730580	46730580	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtattatttaccaaaggaCaatgccatctccaacagcat	16	10	5	10	0	1	0	0	0	1	0	2	1	1	1	3	1	4	2	3	1	7	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr13:46730580C>A	ENST00000398576.2	-	8	872	c.484G>T	c.(484-486)Gtc>Ttc	p.V162F	LCP1_ENST00000323076.2_Missense_Mutation_p.V162F			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	162	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TACCAAAGGACAATGCCATCT	0.383			T	BCL6	NHL								17	28					1.56452e-12	2.29367e-12	1	0	A	46730580	C	A	46730580	3	1	112	1	0	0	0	0	1	0	0	0	8744	478	17	4	1447	4	LCP1	13	46730580	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08		46730580	68439298	275	21473											
PCDH8	5100	broad.mit.edu	37	chr13	53421458	53421458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcggcggcggcggcagCggcgaagggtgaggttgccg	5	4	22	10	7	0	1	0	1	0	0	0	2	0	1	1	7	4	3	1	7	1	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr13:53421458C>A	ENST00000377942.3	-	1	1317	c.1114G>T	c.(1114-1116)Gct>Tct	p.A372S	PCDH8_ENST00000338862.4_Missense_Mutation_p.A372S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	372					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCGGCGGCAGCGGCGAAGGGT	0.741													5	11					1.23904e-05	1.48248e-05	1	0	A	53421458	C	A	53421458	3	1	112	1	0	0	0	0	1	0	0	0	11588	768	27	3	2110	3	PCDH8	13	53421458	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	6690878	53421458	61748420	276	21474											
PCDH9	5101	broad.mit.edu	37	chr13	67802364	67802364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccaaaggggcatccccaGctttagaaaccagtctgtag	12	8	9	12	0	2	1	1	0	1	1	3	1	3	1	4	2	2	3	4	2	4	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr13:67802364G>T	ENST00000544246.1	-	2	900	c.209C>A	c.(208-210)gCt>gAt	p.A70D	PCDH9_ENST00000377865.2_Missense_Mutation_p.A70D|PCDH9_ENST00000328454.5_Missense_Mutation_p.A70D|PCDH9_ENST00000377861.3_Missense_Mutation_p.A70D|PCDH9_ENST00000456367.1_Missense_Mutation_p.A70D	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	70	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGCATCCCCAGCTTTAGAAAC	0.478													13	11					0.0202918	0.0212304	1	0	T	67802364	G	T	67802364	3	4	112	1	0	0	0	0	1	0	0	0	11589	971	34	4	3520	4	PCDH9	13	67802364	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	14380906	67802364	47367514	277	21475											
OR4Q3	441669	broad.mit.edu	37	chr14	20215980	20215980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccatctgtaaccctttgCgctaccttacagtcatgaac	9	13	6	13	1	2	1	1	1	1	0	2	1	2	1	3	0	6	2	3	0	4	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:20215980C>A	ENST00000331723.1	+	1	394	c.394C>A	c.(394-396)Cgc>Agc	p.R132S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAACCCTTTGCGCTACCTTAC	0.493													18	29					8.10497e-08	1.05476e-07	1	0	A	20215980	C	A	20215980	3	1	112	1	0	0	0	0	1	0	0	0	11152	768	27	3	396	3	OR4Q3	14	20215980	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08		20215980	87133560	278	21476											
OR6S1	341799	broad.mit.edu	37	chr14	21109542	21109542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagaaagaagtagaaataGaattgggtgatacatgcagc	17	7	12	5	1	0	5	0	1	0	4	0	6	0	5	1	1	3	2	1	1	7	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:21109542G>T	ENST00000320704.3	-	1	308	c.309C>A	c.(307-309)ttC>ttA	p.F103L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AGTAGAAATAGAATTGGGTGA	0.488													10	40					4.1943e-16	6.44755e-16	1	0	T	21109542	G	T	21109542	3	4	112	1	0	0	0	0	1	0	0	0	11280	933	33	2	690	2	OR6S1	14	21109542	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	893562	21109542	86239998	279	21477											
NDRG2	57447	broad.mit.edu	37	chr14	21486369	21486369	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggcactcacctgagtCagctggggctgacctccgga	7	6	14	14	2	2	2	2	2	0	0	3	3	3	3	3	4	2	4	3	4	0	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:21486369C>A	ENST00000556147.1	-	14	1831	c.891G>T	c.(889-891)ctG>ctT	p.L297L	NDRG2_ENST00000397856.3_Silent_p.L267L|NDRG2_ENST00000554143.1_Silent_p.L283L|NDRG2_ENST00000554104.1_Silent_p.L210L|NDRG2_ENST00000298684.5_Silent_p.L254L|NDRG2_ENST00000298687.5_Silent_p.L297L|NDRG2_ENST00000403829.3_Silent_p.L293L|NDRG2_ENST00000397844.2_Silent_p.L267L|NDRG2_ENST00000397847.2_Silent_p.L286L|NDRG2_ENST00000350792.3_Silent_p.L283L|NDRG2_ENST00000397851.2_Silent_p.L297L|NDRG2_ENST00000397858.1_Silent_p.L297L|NDRG2_ENST00000397853.3_Silent_p.L297L|NDRG2_ENST00000553503.1_Silent_p.L283L|NDRG2_ENST00000360463.3_Silent_p.L283L|NDRG2_ENST00000397855.3_Silent_p.L254L|NDRG2_ENST00000555158.1_Silent_p.L283L			Q9UN36	NDRG2_HUMAN	NDRG family member 2	297					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TCACCTGAGTCAGCTGGGGCT	0.592													13	22					9.31168e-06	1.11693e-05	1	0	A	21486369	C	A	21486369	2	1	112	1	0	0	0	0	0	0	0	1	10322	813	29	2		2	NDRG2	14	21486369	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	376827	21486369	85863171	280	21478											
MYH6	4624	broad.mit.edu	37	chr14	23869490	23869490	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgaggtcaatgcaggccTgcaggtccatgccaaagtca	11	7	12	11	1	2	1	2	1	0	0	3	2	3	1	3	3	3	2	3	3	2	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:23869490T>C	ENST00000405093.3	-	14	1626	c.1556A>G	c.(1555-1557)cAg>cGg	p.Q519R	MYH6_ENST00000356287.3_Missense_Mutation_p.Q519R	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	519	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AATGCAGGCCTGCAGGTCCAT	0.552													18	36					0	0	0	0	C	23869490	T	C	23869490	3	2	112	1	0	0	0	0	1	0	0	0	10108	1580	55	5	4367	5	MYH6	14	23869490	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	2383121	23869490	83480050	281	21479											
AKAP6	9472	broad.mit.edu	37	chr14	33293497	33293497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgcttttttgaggcctgtGttgagggtgactctgatgga	7	15	14	5	0	1	4	0	4	1	0	1	5	1	5	1	3	1	2	1	3	1	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:33293497G>A	ENST00000280979.4	+	13	6648	c.6478G>A	c.(6478-6480)Gtt>Att	p.V2160I	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2160					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)		TGAGGCCTGTGTTGAGGGTGA	0.473													4	15					0	0	0	0	A	33293497	G	A	33293497	3	1	112	1	0	0	0	0	1	0	0	0	455	1377	48	4	6524	4	AKAP6	14	33293497	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	9424007	33293497	74056043	282	21480											
EGLN3	112399	broad.mit.edu	37	chr14	34419948	34419948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtccagcctcatgatgtgtCccaggggcatctcgcccgca	6	8	12	15	2	2	1	1	1	1	0	5	1	4	1	4	3	1	2	4	3	0	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:34419948C>T	ENST00000547327.2	-	1	339	c.11G>A	c.(10-12)gGa>gAa	p.G4E	EGLN3_ENST00000553215.1_Missense_Mutation_p.G4E|EGLN3_ENST00000250457.3_Missense_Mutation_p.G4E			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	4					apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	CATGATGTGTCCCAGGGGCAT	0.627													35	74					0	0	0	0	T	34419948	C	T	34419948	3	4	112	1	0	0	0	0	1	0	0	0	5006	855	30	2	728	2	EGLN3	14	34419948	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	1126451	34419948	72929592	283	21481											
SPTB	6710	broad.mit.edu	37	chr14	65239950	65239950	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactcacagtcacgtggtcAaagtcttgccccatttccgg	8	11	8	14	2	4	0	3	0	1	0	5	0	5	0	3	2	2	0	3	2	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:65239950A>C	ENST00000389722.3	-	24	5219	c.5166T>G	c.(5164-5166)ttT>ttG	p.F1722L	SPTB_ENST00000556626.1_Missense_Mutation_p.F1722L|SPTB_ENST00000542895.1_Missense_Mutation_p.F1722L|SPTB_ENST00000389720.3_Missense_Mutation_p.F1722L|SPTB_ENST00000389721.5_Missense_Mutation_p.F1722L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1722					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCACGTGGTCAAAGTCTTGCC	0.537													6	33					0	0	0	0	C	65239950	A	C	65239950	3	2	112	1	0	0	0	0	1	0	0	0	15208	127	5	5	1937	5	SPTB	14	65239950	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	30820002	65239950	42109590	284	21482											
GPHN	10243	broad.mit.edu	37	chr14	67589039	67589039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaatcgttcaactcttctaGcaacaattcaggaacatggt	13	11	7	10	1	4	0	2	0	2	0	5	1	4	1	0	2	4	3	0	2	6	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:67589039G>A	ENST00000478722.1	+	17	2814	c.1693G>A	c.(1693-1695)Gca>Aca	p.A565T	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.A578T|GPHN_ENST00000305960.9_Missense_Mutation_p.A501T|GPHN_ENST00000315266.5_Missense_Mutation_p.A532T	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	532	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AACTCTTCTAGCAACAATTCA	0.383			T	MLL	AL								6	20					0	0	0	0	A	67589039	G	A	67589039	3	1	112	1	0	0	0	0	1	0	0	0	6659	971	34	4	1759	4	GPHN	14	67589039	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	2349089	67589039	39760501	285	21483											
PLEK2	26499	broad.mit.edu	37	chr14	67859513	67859513	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggccagggtcaccgcctCcagacggctggccgtgaagc	7	4	16	14	3	1	2	1	1	0	1	2	3	2	3	5	5	1	1	5	5	1	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:67859513C>A	ENST00000216446.4	-	5	675	c.535G>T	c.(535-537)Gag>Tag	p.E179*		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	179	DEP.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GTCACCGCCTCCAGACGGCTG	0.642													8	17					0.000157383	0.00018101	1	0	A	67859513	C	A	67859513	4	1	112	1	0	0	0	0	0	1	0	0	12126	864	30	2	546	2	PLEK2	14	67859513	Nonsense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	270474	67859513	39490027	286	21484											
SMOC1	64093	broad.mit.edu	37	chr14	70478250	70478250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagggccaagactacagaGgcggatgaccccttcaagga	12	4	13	12	1	1	3	1	1	0	2	1	5	1	5	4	4	1	0	4	4	3	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:70478250G>T	ENST00000381280.4	+	9	1159	c.906G>T	c.(904-906)gaG>gaT	p.E302D	SMOC1_ENST00000361956.3_Missense_Mutation_p.E302D	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	302					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGACTACAGAGGCGGATGACC	0.602													6	39					0.00307968	0.00334748	1	0	T	70478250	G	T	70478250	3	4	112	1	0	0	0	0	1	0	0	0	14889	991	35	4	940	4	SMOC1	14	70478250	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	2618737	70478250	36871290	287	21485											
DIO2	1734	broad.mit.edu	37	chr14	80669344	80669344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggagtcccccggtatcgcCcagccatctgatggatgagc	8	7	13	13	2	1	2	0	2	1	0	3	5	2	4	4	3	2	1	4	3	1	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:80669344C>A	ENST00000557010.1	-	4	895	c.510G>T	c.(508-510)tgG>tgT	p.W170C	DIO2_ENST00000555750.1_Missense_Mutation_p.W206C|DIO2_ENST00000438257.4_Missense_Mutation_p.W170C|DIO2_ENST00000557125.1_Missense_Mutation_p.G45V|DIO2_ENST00000422005.3_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	170					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCGGTATCGCCCAGCCATCTG	0.557											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	20					9.31168e-06	1.11693e-05	1	0	A	80669344	C	A	80669344	3	1	112	1	0	0	0	0	1	0	0	0	4562	624	22	4	315	4	DIO2	14	80669344	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	10191094	80669344	26680196	288	21486											
FLRT2	23768	broad.mit.edu	37	chr14	86089034	86089034	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctctattccaaaccctagCagaagctacacgcctccaac	12	8	4	17	1	1	1	0	0	1	1	4	1	3	1	4	0	5	2	4	0	6	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:86089034C>T	ENST00000330753.4	+	2	1943	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	FLRT2_ENST00000554746.1_Silent_p.S392S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	392					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)		CAAACCCTAGCAGAAGCTACA	0.577													27	54					0	0	0	0	T	86089034	C	T	86089034	2	4	112	1	0	0	0	0	0	0	0	1	5984	709	25	4		4	FLRT2	14	86089034	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	5419690	86089034	21260506	289	21487											
PPP4R4	57718	broad.mit.edu	37	chr14	94708277	94708277	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatttcagtacggaagaacTgtgcttataactttccggta	12	14	8	7	2	1	1	1	0	0	1	2	2	2	2	1	2	4	3	1	2	7	7			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:94708277T>C	ENST00000304338.3	+	10	1283	c.1129T>C	c.(1129-1131)Tgt>Cgt	p.C377R		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	377						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ACGGAAGAACTGTGCTTATAA	0.318													7	19					0	0	0	0	C	94708277	T	C	94708277	3	2	112	1	0	0	0	0	1	0	0	0	12481	1580	55	5	1240	5	PPP4R4	14	94708277	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	8619243	94708277	12641263	290	21488											
EML1	2009	broad.mit.edu	37	chr14	100331947	100331947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctctaccatccccctccgGggtcaggaaagaaactgctg	9	8	9	15	1	2	1	1	0	1	1	5	2	4	2	4	3	3	1	4	3	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:100331947G>T	ENST00000262233.6	+	3	486	c.347G>T	c.(346-348)gGg>gTg	p.G116V	EML1_ENST00000327921.9_Missense_Mutation_p.G85V|EML1_ENST00000556758.1_3'UTR|EML1_ENST00000334192.4_Missense_Mutation_p.G116V	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	116						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCCCCCTCCGGGGTCAGGAAA	0.498													8	17					3.09899e-07	3.94643e-07	1	0	T	100331947	G	T	100331947	3	4	112	1	0	0	0	0	1	0	0	0	5134	1232	43	4	357	4	EML1	14	100331947	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	5623670	100331947	7017593	291	21489											
OR4N4	283694	broad.mit.edu	37	chr15	22382568	22382568	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggtctttgtgctgatcttAattttctaccttatcatcct	6	21	5	9	0	4	1	1	1	3	0	5	1	5	1	2	1	2	1	2	1	3	7			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:22382568A>C	ENST00000328795.4	+	1	187	c.96A>C	c.(94-96)ttA>ttC	p.L32F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGCTGATCTTAATTTTCTACC	0.408													34	117					0	0	0	0	C	22382568	A	C	22382568	3	2	112	1	0	0	0	0	1	0	0	0	11149	359	13	5	98	5	OR4N4	15	22382568	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08		22382568	80148824	292	21490											
GABRG3	2567	broad.mit.edu	37	chr15	27725977	27725977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctctcaaaagccagagaGgcctaaggccatatgtagtc	13	7	10	11	0	1	1	1	0	1	1	3	2	1	1	3	2	2	2	3	2	5	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:27725977G>T	ENST00000555083.1	+	6	899	c.756G>T	c.(754-756)gaG>gaT	p.E252D	GABRG3_ENST00000333743.6_Intron	NM_001270873.1	NP_001257802.1	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	0					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AAGCCAGAGAGGCCTAAGGCC	0.413													4	8					0.00909568	0.00966543	1	0	T	27725977	G	T	27725977	3	4	112	1	0	0	0	0	1	0	0	0	6221	1015	35	4		4	GABRG3	15	27725977	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	5343409	27725977	74805415	293	21491											
ACTC1	70	broad.mit.edu	37	chr15	35085545	35085545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catgatctgagtcatcttctCccggttggccttggggttca	5	14	11	11	1	5	2	2	2	3	0	6	2	5	2	2	4	0	2	2	4	0	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:35085545C>T	ENST00000290378.4	-	3	1010	c.355G>A	c.(355-357)Gag>Aag	p.E119K	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	119					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GTCATCTTCTCCCGGTTGGCC	0.582													36	49					0	0	0	0	T	35085545	C	T	35085545	3	4	112	1	0	0	0	0	1	0	0	0	195	864	30	2	798	2	ACTC1	15	35085545	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	7359568	35085545	67445847	294	21492											
EXD1	161829	broad.mit.edu	37	chr15	41488237	41488237	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcggcaatttgtggccaccTacaatagaccatccagacac	12	8	7	14	1	0	2	0	0	0	2	2	2	1	2	4	2	1	1	4	2	4	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:41488237T>A	ENST00000314992.5	-	6	551		c.e6-2		EXD1_ENST00000458580.2_Splice_Site	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TGTGGCCACCTACAATAGACC	0.383													5	13					0	0	0	0	A	41488237	T	A	41488237	5	1	112	1	0	0	0	0	0	0	1	0	5334	1536	53	5	1205	5	EXD1	15	41488237	Splice_Site	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	6402692	41488237	61043155	295	21493											
DUOX2	50506	broad.mit.edu	37	chr15	45404788	45404788	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggtgcggttgtggagcgAcggcaggccggctatgcccc	5	7	17	12	5	0	0	0	0	0	0	0	2	0	1	3	6	4	3	3	6	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:45404788A>T	ENST00000389039.6	-	4	674	c.289T>A	c.(289-291)Tcg>Acg	p.S97T	DUOX2_ENST00000603300.1_Missense_Mutation_p.S97T			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	97	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTGTGGAGCGACGGCAGGCCG	0.677													34	61					0	0	0	0	T	45404788	A	T	45404788	3	4	112	1	0	0	0	0	1	0	0	0	4837	275	10	5	4481	5	DUOX2	15	45404788	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	3916551	45404788	57126604	296	21494											
HDC	3067	broad.mit.edu	37	chr15	50544696	50544696	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcacactgaaggtctgctgCagcttgtacttgtccttgac	7	14	9	11	0	2	2	1	2	1	0	3	2	3	2	1	1	4	4	1	1	2	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:50544696C>A	ENST00000267845.3	-	9	1374	c.972G>T	c.(970-972)ctG>ctT	p.L324L	HDC_ENST00000543581.1_Silent_p.L324L	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	324					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AGGTCTGCTGCAGCTTGTACT	0.602													24	55					3.08376e-08	4.04637e-08	1	0	A	50544696	C	A	50544696	2	1	112	1	0	0	0	0	0	0	0	1	7065	697	25	4		4	HDC	15	50544696	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	5139908	50544696	51986696	297	21495											
PYGO1	26108	broad.mit.edu	37	chr15	55839092	55839092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggattctgaggaaatGggtgtggctggttcctgagt	8	11	16	6	0	1	3	0	2	1	1	2	5	2	5	2	5	0	2	2	5	1	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:55839092G>T	ENST00000302000.6	-	3	483	c.389C>A	c.(388-390)cCa>cAa	p.P130Q	PYGO1_ENST00000563719.1_Missense_Mutation_p.P130Q	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	130	Pro-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		CTGAGGAAATGGGTGTGGCTG	0.448													16	39					3.45872e-05	4.08679e-05	1	0	T	55839092	G	T	55839092	3	4	112	1	0	0	0	0	1	0	0	0	12945	1348	47	4	874	4	PYGO1	15	55839092	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	5294396	55839092	46692300	298	21496											
LIPC	3990	broad.mit.edu	37	chr15	58855824	58855824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagtgtgggccaatgtctgGgacacggtccagaccatcat	9	8	13	11	1	2	1	1	0	1	1	3	2	3	2	3	3	0	1	3	3	1	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:58855824G>T	ENST00000414170.3	+	9	1577	c.1290G>T	c.(1288-1290)tgG>tgT	p.W430C	LIPC_ENST00000433326.2_Missense_Mutation_p.W369C|LIPC_ENST00000299022.5_Missense_Mutation_p.W430C|LIPC_ENST00000356113.6_Missense_Mutation_p.W430C			P11150	LIPC_HUMAN	lipase, hepatic	430	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CCAATGTCTGGGACACGGTCC	0.517													17	29					1.5739e-10	2.225e-10	1	0	T	58855824	G	T	58855824	3	4	112	1	0	0	0	0	1	0	0	0	8875	1241	43	4	1320	4	LIPC	15	58855824	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	3016732	58855824	43675568	299	21497											
SMAD3	4088	broad.mit.edu	37	chr15	67473711	67473711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatggcttcaccgacccctCcaattcggagcgcttctgcc	6	9	10	16	3	2	0	1	0	1	0	4	3	3	2	5	3	2	2	5	3	1	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:67473711C>A	ENST00000327367.4	+	6	1101	c.791C>A	c.(790-792)tCc>tAc	p.S264Y	SMAD3_ENST00000540846.2_Missense_Mutation_p.S159Y|SMAD3_ENST00000537194.2_Missense_Mutation_p.S69Y|SMAD3_ENST00000439724.3_Missense_Mutation_p.S220Y	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	264	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		ACCGACCCCTCCAATTCGGAG	0.587													17	27					6.44725e-10	9.00719e-10	1	0	A	67473711	C	A	67473711	3	1	112	1	0	0	0	0	1	0	0	0	14847	855	30	2	891	2	SMAD3	15	67473711	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	8617887	67473711	35057681	300	21498											
IQCH	64799	broad.mit.edu	37	chr15	67687863	67687863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgacagtgccaatgtggcaGttcctcctggaatatatgat	10	13	10	8	0	0	2	0	2	0	0	2	3	2	3	3	2	1	2	3	2	4	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:67687863G>T	ENST00000335894.4	+	13	1933	c.1867G>T	c.(1867-1869)Gtt>Ttt	p.V623F	IQCH_ENST00000358767.3_Intron|IQCH_ENST00000360277.4_Intron|IQCH_ENST00000546225.1_Intron	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	623										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CAATGTGGCAGTTCCTCCTGG	0.428													26	43					2.65835e-16	4.09972e-16	1	0	T	67687863	G	T	67687863	3	4	112	1	0	0	0	0	1	0	0	0	7864	1029	36	4	2045	4	IQCH	15	67687863	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	214152	67687863	34843529	301	21499											
KIAA1024	23251	broad.mit.edu	37	chr15	79750711	79750711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcacttataccaaccGtgtgggcctcaatgaggagg	11	8	10	12	1	2	1	2	1	0	0	2	2	2	2	4	3	2	0	4	3	4	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:79750711G>T	ENST00000305428.3	+	2	2297	c.2222G>T	c.(2221-2223)cGt>cTt	p.R741L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	741						integral to membrane		p.R741L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TATACCAACCGTGTGGGCCTC	0.463													13	26					1.49906e-05	1.78908e-05	1	0	T	79750711	G	T	79750711	3	4	112	1	0	0	0	0	1	0	0	0	8256	1145	40	3	2224	3	KIAA1024	15	79750711	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	12062848	79750711	22780681	302	21500											
SLC28A1	9154	broad.mit.edu	37	chr15	85478710	85478710	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcaacgccgcctggcaggGgccgaggagtgggtcggcga	8	3	19	11	5	0	0	0	0	0	0	1	3	0	1	3	6	2	2	3	6	2	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:85478710G>C	ENST00000394573.1	+	15	1744	c.1542G>C	c.(1540-1542)ggG>ggC	p.G514G	SLC28A1_ENST00000286749.3_Silent_p.G514G|SLC28A1_ENST00000537216.1_Silent_p.G514G|SLC28A1_ENST00000537624.1_Silent_p.G514G|SLC28A1_ENST00000538177.1_Intron	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	514					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCTGGCAGGGGCCGAGGAGT	0.612													37	74					0	0	0	0	C	85478710	G	C	85478710	2	2	112	1	0	0	0	0	0	0	0	1	14619	1219	43	4		4	SLC28A1	15	85478710	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	5727999	85478710	17052682	303	21501											
AXIN1	8312	broad.mit.edu	37	chr16	364684	364684	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgccaggatccatacCtgcaaacaggcaagcagggc	11	4	11	15	1	0	0	0	0	0	0	2	1	2	1	4	3	4	4	4	3	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:364684C>T	ENST00000262320.3	-	3	1250		c.e3-1		AXIN1_ENST00000354866.3_Splice_Site|AXIN1_ENST00000481769.1_Splice_Site	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1						activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGATCCATACCTGCAAACAGG	0.498													25	12					0	0	0	0	T	364684	C	T	364684	5	4	112	1	0	0	0	0	0	0	1	0	1240	695	24	4	1746	4	AXIN1	16	364684	Splice_Site	SNP	C	TCGA-CN-A497-01A-11D-A24D-08		364684	89990069	304	21502											
GNG13	51764	broad.mit.edu	37	chr16	848729	848729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgcggggctcacaggatgGtgcatttgcccttttccacc	5	11	13	12	1	1	0	1	0	0	0	2	1	2	1	3	5	3	2	3	5	0	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:848729G>A	ENST00000248150.4	-	3	295	c.194C>T	c.(193-195)aCc>aTc	p.T65I		NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein), gamma 13	65					cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity			ovary(1)	1		Hepatocellular(780;0.00335)				TCACAGGATGGTGCATTTGCC	0.622													63	228					0	0	0	0	A	848729	G	A	848729	3	1	112	1	0	0	0	0	1	0	0	0	6577	1261	44	4	13	4	GNG13	16	848729	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	484045	848729	89506024	305	21503											
BAIAP3	8938	broad.mit.edu	37	chr16	1396190	1396190	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctgcgtggtcctcaacaAtgtggagctcgtgcgcaagg	7	9	14	11	3	2	0	1	0	1	0	4	1	3	1	1	3	4	3	1	3	3	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:1396190A>G	ENST00000324385.5	+	25	2584	c.2426A>G	c.(2425-2427)aAt>aGt	p.N809S	BAIAP3_ENST00000397489.1_Missense_Mutation_p.N791S|BAIAP3_ENST00000426824.3_Missense_Mutation_p.N774S|BAIAP3_ENST00000562208.1_Missense_Mutation_p.N751S|BAIAP3_ENST00000397488.2_Missense_Mutation_p.N791S|BAIAP3_ENST00000568887.1_Missense_Mutation_p.N746S|BAIAP3_ENST00000421665.2_Missense_Mutation_p.N738S	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	809					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GTCCTCAACAATGTGGAGCTC	0.716													21	18					0	0	0	0	G	1396190	A	G	1396190	3	3	112	1	0	0	0	0	1	0	0	0	1308	101	4	5	2524	5	BAIAP3	16	1396190	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	547461	1396190	88958563	306	21504											
IFT140	9742	broad.mit.edu	37	chr16	1633322	1633322	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaaagaacccacctgcactCcgtatcgcggctccagaaag	13	5	9	14	3	0	2	0	0	0	2	3	3	2	2	4	1	2	3	4	1	5	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:1633322C>T	ENST00000426508.2	-	12	1788	c.1425G>A	c.(1423-1425)cgG>cgA	p.R475R	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	475										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CACCTGCACTCCGTATCGCGG	0.577													16	47					0	0	0	0	T	1633322	C	T	1633322	2	4	112	1	0	0	0	0	0	0	0	1	7609	842	30	2		2	IFT140	16	1633322	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	237132	1633322	88721431	307	21505											
TNP2	7142	broad.mit.edu	37	chr16	11363039	11363039	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgaaggtttggcaatggcgGgtgcaggtgcggctttgggg	5	10	20	6	2	0	1	0	1	0	0	0	1	0	1	0	8	2	4	0	8	2	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:11363039G>C	ENST00000312693.3	-	1	150	c.81C>G	c.(79-81)acC>acG	p.T27T	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	27					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GGCAATGGCGGGTGCAGGTGC	0.622													130	141					0	0	0	0	C	11363039	G	C	11363039	2	2	112	1	0	0	0	0	0	0	0	1	16428	1219	43	4		4	TNP2	16	11363039	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	9729717	11363039	78991714	308	21506											
SCNN1G	6340	broad.mit.edu	37	chr16	23208746	23208746	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctctataggaatgcacCtggtaagagaatattctcat	13	12	7	9	0	3	1	2	0	2	1	4	3	3	2	2	2	1	2	2	2	6	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:23208746C>T	ENST00000300061.2	+	6	1218	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	359					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	AGGAATGCACCTGGTAAGAGA	0.443													5	29					0	0	0	0	T	23208746	C	T	23208746	2	4	112	1	0	0	0	0	0	0	0	1	14017	680	24	4		4	SCNN1G	16	23208746	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	11845707	23208746	67146007	309	21507											
PRKCB	5579	broad.mit.edu	37	chr16	24043458	24043458	+	Splice_Site	DEL	A	A	-																															ttgtttctcttggctccaggAcccccgcagcaaacacaagt																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:24043458delA	ENST00000303531.7	+	4	442	c.288_splice	c.e4-1	p.D97_splice	PRKCB_ENST00000321728.7_Splice_Site_p.D97_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	97					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TGGCTCCAGGACCCCCGCAGC	0.537													16	23	---	---	---	---					-	24043458	A	-	24043458	8	5	112	1	0	1	0	1	0	0	1	0	12588	289	10	0	304	0	PRKCB	16	24043458	Splice_Site	DEL	A	TCGA-CN-A497-01A-11D-A24D-08	834712	24043458	66311295	310	21508											
IL21R	50615	broad.mit.edu	37	chr16	27445713	27445713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaccgattacctccagaCggtcatctgcatcctggaaa	11	9	7	14	2	2	1	1	0	1	1	4	3	4	2	4	2	3	1	4	2	3	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:27445713C>A	ENST00000337929.3	+	3	568	c.95C>A	c.(94-96)aCg>aAg	p.T32K	IL21R_ENST00000395754.4_Missense_Mutation_p.T32K|IL21R_ENST00000564089.1_Missense_Mutation_p.T32K|IL21R_ENST00000395755.1_Missense_Mutation_p.T32K	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	32					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TACCTCCAGACGGTCATCTGC	0.632			T	BCL6	NHL								21	17					1.22574e-08	1.63088e-08	1	0	A	27445713	C	A	27445713	3	1	112	1	0	0	0	0	1	0	0	0	7724	536	19	3	101	3	IL21R	16	27445713	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	3402255	27445713	62909040	311	21509											
ATXN2L	11273	broad.mit.edu	37	chr16	28847078	28847079	+	Splice_Site	INS	-	-	G																															aacatggcccatgttacccaINSggtaagagcccagctgtccc																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:28847078_28847079insG	ENST00000336783.4	+	21	3061_3062	c.2895_splice	c.e21+1	p.R965_splice	ATXN2L_ENST00000395547.2_Splice_Site_p.R965_splice|ATXN2L_ENST00000382686.4_Splice_Site_p.R965_splice|ATXN2L_ENST00000340394.8_Splice_Site_p.R965_splice|ATXN2L_ENST00000325215.6_Splice_Site_p.R965_splice|ATXN2L_ENST00000570200.1_Splice_Site_p.R965_splice|ATXN2L_ENST00000564304.1_Splice_Site_p.R971_splice|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	965						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CATGTTACCCAGGTAAGAGCCC	0.629													13	74	---	---	---	---					G	28847079	-	G	28847078	8	5	112	1	0	1	1	0	0	0	1	0	1216	202	7	0	2976	0	ATXN2L	16	28847078	Splice_Site	INS	-	TCGA-CN-A497-01A-11D-A24D-08	1401365	28847078	61507675	312	21510											
TAOK2	9344	broad.mit.edu	37	chr16	29997052	29997052	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagaaggagcagctccAgcagtgccaggcggaggagg	10	2	19	10	2	0	1	0	0	0	1	1	4	1	4	2	6	4	4	2	6	1	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:29997052A>G	ENST00000308893.4	+	15	2905	c.1862A>G	c.(1861-1863)cAg>cGg	p.Q621R	TAOK2_ENST00000279394.3_Missense_Mutation_p.Q621R|TAOK2_ENST00000416441.2_Missense_Mutation_p.Q448R|TAOK2_ENST00000543033.1_Missense_Mutation_p.Q621R	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	621					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAGCAGCTCCAGCAGTGCCAG	0.657													9	32					0	0	0	0	G	29997052	A	G	29997052	3	3	112	1	0	0	0	0	1	0	0	0	15639	188	7	5	1916	5	TAOK2	16	29997052	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	1149974	29997052	60357701	313	21511											
ZNF423	23090	broad.mit.edu	37	chr16	49671513	49671513	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcactggttgcagaagAaagcattattaccgtcagag	13	9	12	7	1	1	3	1	0	0	3	1	4	1	4	1	2	4	4	1	2	4	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:49671513A>G	ENST00000561648.1	-	4	1603	c.1550T>C	c.(1549-1551)tTc>tCc	p.F517S	ZNF423_ENST00000562871.1_Missense_Mutation_p.F457S|ZNF423_ENST00000535559.1_Missense_Mutation_p.F400S|ZNF423_ENST00000262383.2_Missense_Mutation_p.F517S|ZNF423_ENST00000563137.2_Missense_Mutation_p.F457S|ZNF423_ENST00000567169.1_Missense_Mutation_p.F400S|ZNF423_ENST00000562520.1_Missense_Mutation_p.F457S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	517					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTTGCAGAAGAAAGCATTATT	0.577													22	16					0	0	0	0	G	49671513	A	G	49671513	3	3	112	1	0	0	0	0	1	0	0	0	17993	246	9	5	2324	5	ZNF423	16	49671513	Missense_Mutation	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	19674461	49671513	40683240	314	21512											
SALL1	6299	broad.mit.edu	37	chr16	51175392	51175392	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttggtgacgaatctgttcGatcaattgcagctggtggat	9	14	12	6	2	2	1	1	1	1	0	3	4	2	2	0	3	2	3	0	3	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:51175392G>A	ENST00000440970.1	-	2	881	c.450C>T	c.(448-450)atC>atT	p.I150I	SALL1_ENST00000251020.4_Silent_p.I247I|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	247	Poly-Ser.		Missing.|S -> SS.		adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I247I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAATCTGTTCGATCAATTGCA	0.542													20	44					0	0	0	0	A	51175392	G	A	51175392	2	1	112	1	0	0	0	0	0	0	0	1	13895	1048	37	1		1	SALL1	16	51175392	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1503879	51175392	39179361	315	21513											
CHD9	80205	broad.mit.edu	37	chr16	53308168	53308168	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtattatctaaagcaagaaGttattggaaatgagtgtcag	15	13	10	3	0	2	2	1	1	1	1	2	3	2	3	0	1	1	3	0	1	8	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:53308168G>C	ENST00000566029.1	+	24	5130	c.4921G>C	c.(4921-4923)Gtt>Ctt	p.V1641L	CHD9_ENST00000398510.3_Missense_Mutation_p.V1641L|CHD9_ENST00000564845.1_Missense_Mutation_p.V1641L|CHD9_ENST00000447540.1_Missense_Mutation_p.V1641L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1641					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAAGCAAGAAGTTATTGGAAA	0.323													2	1					0	0	0	0	C	53308168	G	C	53308168	3	2	112	1	0	0	0	0	1	0	0	0	3361	1029	36	4	5011	4	CHD9	16	53308168	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	2132776	53308168	37046585	316	21514											
IRX5	10265	broad.mit.edu	37	chr16	54965318	54965318	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgcacctccagtacggcgccGaccccgcggccgccgccgcc	4	2	12	23	9	0	0	0	0	0	0	1	1	1	0	9	2	1	2	9	2	1	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:54965318G>C	ENST00000394636.4	+	1	545	c.208G>C	c.(208-210)Gac>Cac	p.D70H	IRX5_ENST00000560154.1_Missense_Mutation_p.D70H|IRX5_ENST00000320990.5_Missense_Mutation_p.D70H			P78411	IRX5_HUMAN	iroquois homeobox 5	70				YGADPAAAAAAAFSSYV -> MAVETTVHTHLSASPPQ (in Ref. 2; AAB50002).	response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GTACGGcgccgaccccgcggc	0.756													10	14					0	0	0	0	C	54965318	G	C	54965318	3	2	112	1	0	0	0	0	1	0	0	0	7900	1058	37	3	210	3	IRX5	16	54965318	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1657150	54965318	35389435	317	21515											
RLTPR	146206	broad.mit.edu	37	chr16	67683164	67683164	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcccacagggagaccCtggacgacgtcctgcaccgg	7	4	12	18	3	0	1	0	0	0	1	1	4	1	2	6	3	2	1	6	3	0	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:67683164C>T	ENST00000334583.6	+	19	2024	c.1696C>T	c.(1696-1698)Ctg>Ttg	p.L566L	RLTPR_ENST00000545661.1_Silent_p.L530L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	566										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGGGAGACCCTGGACGACGT	0.642													8	9					0	0	0	0	T	67683164	C	T	67683164	2	4	112	1	0	0	0	0	0	0	0	1	13479	680	24	4		4	RLTPR	16	67683164	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	12717846	67683164	22671589	318	21516											
GLG1	2734	broad.mit.edu	37	chr16	74524900	74524900	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagcaatgtctccttaccGcctgctggcagttcattcca	9	12	7	13	1	2	0	1	0	1	0	4	0	3	0	4	1	3	4	4	1	4	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:74524900G>T	ENST00000422840.2	-	8	1447	c.1449_splice	c.e8+1	p.A483_splice	GLG1_ENST00000205061.5_Splice_Site_p.A483_splice|GLG1_ENST00000447066.2_Splice_Site_p.A472_splice	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	483						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCTCCTTACCGCCTGCTGGCA	0.478													16	21					3.32936e-07	4.22846e-07	1	0	T	74524900	G	T	74524900	5	4	112	1	0	0	0	0	0	0	1	0	6487	1101	38	3	2247	3	GLG1	16	74524900	Splice_Site	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	6841736	74524900	15829853	319	21517											
OR1E2	8388	broad.mit.edu	37	chr17	3337109	3337109	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaggagcaggaagtctgaGatgctggtttgattttgtcc	8	12	13	8	0	1	2	0	2	1	1	2	5	2	4	2	3	2	3	2	3	1	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:3337109G>C	ENST00000248384.1	-	1	26	c.27C>G	c.(25-27)atC>atG	p.I9M		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	9					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.I9I(1)		endometrium(3)|large_intestine(3)|lung(3)	9						GGAAGTCTGAGATGCTGGTTT	0.458													14	35					0	0	0	0	C	3337109	G	C	3337109	3	2	112	1	0	0	0	0	1	0	0	0	11026	932	33	2	947	2	OR1E2	17	3337109	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08		3337109	77858101	320	21518											
TP53	7157	broad.mit.edu	37	chr17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagattctcttcctctgtgCgccggtctctcccaggacag	5	11	11	14	2	3	1	0	0	3	1	7	3	5	2	3	3	1	0	3	3	0	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:7577090C>G	ENST00000420246.2	-	8	980	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000269305.4_Missense_Mutation_p.R283P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCTCTGTGCGCCGGTCTCT	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	26					0	0	0	0	G	7577090	C	G	7577090	3	3	112	1	0	0	0	0	1	0	0	0	16476	768	27	3	438	3	TP53	17	7577090	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	4239981	7577090	73618120	321	21519											
TP53	7157	broad.mit.edu	37	chr17	7577142	7577142	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctcaaagctgttccgtcCcagtagattaccactactca	11	10	5	15	1	2	1	2	0	0	1	4	1	4	1	4	0	3	3	4	0	4	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:7577142C>A	ENST00000420246.2	-	8	928	c.796G>T	c.(796-798)Gga>Tga	p.G266*	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.G266*|TP53_ENST00000445888.2_Nonsense_Mutation_p.G266*|TP53_ENST00000359597.4_Nonsense_Mutation_p.G266*|TP53_ENST00000269305.4_Nonsense_Mutation_p.G266*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGTTCCGTCCCAGTAGATTA	0.517		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	14					0.0293803	0.0304045	1	0	A	7577142	C	A	7577142	4	1	112	1	0	0	0	0	0	1	0	0	16476	632	22	4	490	4	TP53	17	7577142	Nonsense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	52	7577142	73618068	322	21520											
NTN1	9423	broad.mit.edu	37	chr17	9066205	9066205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctttcggggcgcaagagcgGaggtgtctgcctcaactgtc	6	9	15	11	3	2	1	1	0	1	1	4	2	2	2	1	4	3	2	1	4	2	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:9066205G>T	ENST00000173229.2	+	3	1201	c.1094G>T	c.(1093-1095)gGa>gTa	p.G365V	NTN1_ENST00000538852.1_Missense_Mutation_p.G365V|NTN1_ENST00000546090.1_Missense_Mutation_p.G365V	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	365	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CGCAAGAGCGGAGGTGTCTGC	0.632													15	32					0.00316338	0.00343061	1	0	T	9066205	G	T	9066205	3	4	112	1	0	0	0	0	1	0	0	0	10771	1174	41	2	1100	2	NTN1	17	9066205	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1489063	9066205	72129005	323	21521											
MYH2	4620	broad.mit.edu	37	chr17	10432781	10432781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcgaagtttcttttcttgCtccaaggacccttcaagcta	9	14	7	11	1	3	0	1	0	2	0	4	2	4	1	2	1	3	3	2	1	4	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:10432781C>A	ENST00000245503.5	-	25	3519	c.3135G>T	c.(3133-3135)gaG>gaT	p.E1045D	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1045D|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1045					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTTTTCTTGCTCCAAGGACC	0.383													11	26					2.27111e-07	2.90776e-07	1	0	A	10432781	C	A	10432781	3	1	112	1	0	0	0	0	1	0	0	0	10105	796	28	4	2754	4	MYH2	17	10432781	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	1366576	10432781	70762429	324	21522											
MYO15A	51168	broad.mit.edu	37	chr17	18022216	18022216	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcctgaaggggacgtcGcggctgttcatgggcttccg	5	8	17	11	5	1	1	1	1	0	0	3	3	2	3	2	5	1	3	2	5	1	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:18022216G>T	ENST00000205890.5	+	2	440	c.102G>T	c.(100-102)tcG>tcT	p.S34S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	34	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGGGACGTCGCGGCTGTTCA	0.627													9	13					0.000442599	0.00049467	1	0	T	18022216	G	T	18022216	2	4	112	1	0	0	0	0	0	0	0	1	10133	1074	38	3		3	MYO15A	17	18022216	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	7589435	18022216	63172994	325	21523											
SUPT6H	6830	broad.mit.edu	37	chr17	27027531	27027531	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggcagcagtgcttaccacGtatgtggcttggggaggaag	8	8	17	8	2	0	0	0	0	0	0	0	2	0	2	1	5	3	5	1	5	3	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:27027531G>T	ENST00000314616.6	+	35	5089		c.e35+1		SUPT6H_ENST00000347486.4_Splice_Site	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGCTTACCACGTATGTGGCTT	0.637													26	39					7.16444e-05	8.34095e-05	1	0	T	27027531	G	T	27027531	5	4	112	1	0	0	0	0	0	0	1	0	15490	1159	40	3	4941	3	SUPT6H	17	27027531	Splice_Site	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	9005315	27027531	54167679	326	21524											
EFCAB5	374786	broad.mit.edu	37	chr17	28380797	28380797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgcagaacaagggtcaCgcagagagtctattgcagaa	14	7	12	8	1	2	3	1	0	1	3	2	4	2	3	0	1	3	4	0	1	4	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:28380797C>T	ENST00000394835.3	+	10	2017	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	EFCAB5_ENST00000541045.1_Missense_Mutation_p.R266C|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R609C|EFCAB5_ENST00000378738.3_Missense_Mutation_p.R609C|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R553C|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R609C	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	609							calcium ion binding	p.R609C(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACAAGGGTCACGCAGAGAGTC	0.488													27	58					0	0	0	0	T	28380797	C	T	28380797	3	4	112	1	0	0	0	0	1	0	0	0	4974	536	19	1	1863	1	EFCAB5	17	28380797	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	1353266	28380797	52814413	327	21525											
GOSR1	9527	broad.mit.edu	37	chr17	28849322	28849322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggatcaacctgaggaagCggcgggactcgctcatccta	11	6	13	11	3	2	2	2	1	0	1	4	5	3	5	2	4	2	1	2	4	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:28849322C>T	ENST00000225724.5	+	9	751	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	GOSR1_ENST00000581721.1_Missense_Mutation_p.R213W|GOSR1_ENST00000467337.2_Missense_Mutation_p.R162W|GOSR1_ENST00000451249.2_Missense_Mutation_p.R225W	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	227					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CCTGAGGAAGCGGCGGGACTC	0.488													71	145					0	0	0	0	T	28849322	C	T	28849322	3	4	112	1	0	0	0	0	1	0	0	0	6625	759	27	1	713	1	GOSR1	17	28849322	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	468525	28849322	52345888	328	21526											
KRT33A	3883	broad.mit.edu	37	chr17	39503099	39503099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctgaacaatacacaccagGttgtgctgggcctgcagctc	9	9	11	12	0	1	1	0	1	1	0	2	1	1	1	2	2	5	4	2	2	3	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:39503099G>T	ENST00000007735.3	-	5	917	c.873C>A	c.(871-873)aaC>aaA	p.N291K		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	291	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TACACACCAGGTTGTGCTGGG	0.592													28	57					4.22769e-11	6.04866e-11	1	0	T	39503099	G	T	39503099	3	4	112	1	0	0	0	0	1	0	0	0	8521	1252	44	4	353	4	KRT33A	17	39503099	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	10653777	39503099	41692111	329	21527											
DHX8	1659	broad.mit.edu	37	chr17	41597587	41597587	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggagcagctgtacacActgggggccctggatgacga	9	6	15	11	1	0	1	0	1	0	0	0	4	0	3	2	4	3	3	2	4	1	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:41597587A>T	ENST00000262415.3	+	19	2961	c.2889A>T	c.(2887-2889)acA>acT	p.T963T	DHX8_ENST00000540306.1_Silent_p.T963T	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	963						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGCTGTACACACTGGGGGCCC	0.547											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	59					0	0	0	0	T	41597587	A	T	41597587	2	4	112	1	0	0	0	0	0	0	0	1	4552	146	6	5		5	DHX8	17	41597587	Silent	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	2094488	41597587	39597623	330	21528											
GPR142	350383	broad.mit.edu	37	chr17	72368531	72368531	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggactggagggtccaccTggccttggatgtggccaata	7	8	15	11	1	0	0	0	0	0	0	1	3	1	3	5	6	0	0	5	6	2	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:72368531T>A	ENST00000335666.4	+	4	1229	c.1181T>A	c.(1180-1182)cTg>cAg	p.L394Q		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	394						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AGGGTCCACCTGGCCTTGGAT	0.617													28	68					0	0	0	0	A	72368531	T	A	72368531	3	1	112	1	0	0	0	0	1	0	0	0	6699	1580	55	5	1195	5	GPR142	17	72368531	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	30770944	72368531	8826679	331	21529											
LGALS3BP	3959	broad.mit.edu	37	chr17	76968228	76968228	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtatcctcggtgaggttcagGcctttgtaccgggccagcaa	7	10	13	11	2	1	1	1	1	0	0	3	1	2	1	4	4	2	4	4	4	3	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:76968228G>C	ENST00000262776.3	-	6	1496	c.1188C>G	c.(1186-1188)ggC>ggG	p.G396G	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	396					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TGAGGTTCAGGCCTTTGTACC	0.577											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	23					0	0	0	0	C	76968228	G	C	76968228	2	2	112	1	0	0	0	0	0	0	0	1	8797	1190	42	4		4	LGALS3BP	17	76968228	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	4599697	76968228	4226982	332	21530											
TSPAN10	83882	broad.mit.edu	37	chr17	79609410	79609410	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacctctcccggcgcctgtGctgggggctttctgttccag	3	11	13	14	2	2	0	0	0	2	0	4	1	3	0	4	3	2	3	4	3	1	2	rs7406219	by1000genomes	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:79609410G>T	ENST00000328585.4	+	0	62					NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGGCGCCTGTGCTGGGGGCTT	0.657													5	63					0.248553	0.251732	1	0	T	79609410	G	T	79609410	1	4	112	0	1	0	0	0	0	0	0	0	16729	1334	46	4		4	TSPAN10	17	79609410	RNA	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	2641182	79609410	1585800	333	21531											
MYOM1	8736	broad.mit.edu	37	chr18	3173972	3173972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccccagcgtggaagcGagtctcatcaaactctccct	10	7	10	14	2	3	0	2	0	2	0	5	3	3	2	3	2	4	0	3	2	3	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr18:3173972G>T	ENST00000356443.4	-	8	1471	c.1138C>A	c.(1138-1140)Cgc>Agc	p.R380S	MYOM1_ENST00000261606.7_Missense_Mutation_p.R380S|MYOM1_ENST00000400569.3_Missense_Mutation_p.R380S	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	380						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCGTGGAAGCGAGTCTCATCA	0.393													17	135					3.52763e-06	4.32978e-06	1	0	T	3173972	G	T	3173972	3	4	112	1	0	0	0	0	1	0	0	0	10161	1058	37	3	4043	3	MYOM1	18	3173972	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08		3173972	74903276	334	21532											
LAMA1	284217	broad.mit.edu	37	chr18	6956694	6956694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcatcgggagccagcttagGcctttctgacagccagcagg	8	8	13	12	1	1	1	0	1	1	0	2	2	1	2	3	3	5	3	3	3	1	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr18:6956694G>T	ENST00000389658.3	-	56	8128	c.8035C>A	c.(8035-8037)Cct>Act	p.P2679T	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2679					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCAGCTTAGGCCTTTCTGAC	0.522													209	35					2.05961e-90	3.42068e-90	1	0	T	6956694	G	T	6956694	3	4	112	1	0	0	0	0	1	0	0	0	8658	1203	42	4	1224	4	LAMA1	18	6956694	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	3782722	6956694	71120554	335	21533											
TXNDC2	84203	broad.mit.edu	37	chr18	9887610	9887610	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacattcccaagtctccAaaacaagccatccagcccaa	14	6	6	15	0	1	1	0	1	1	0	4	1	3	1	5	1	3	0	5	1	5	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr18:9887610A>G	ENST00000306084.6	+	2	1333	c.1134A>G	c.(1132-1134)ccA>ccG	p.P378P	TXNDC2_ENST00000357775.4_Silent_p.P311P|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	378	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCAAGTCTCCAAAACAAGCCA	0.552													448	62					0	0	0	0	G	9887610	A	G	9887610	2	3	112	1	0	0	0	0	0	0	0	1	16893	117	5	5		5	TXNDC2	18	9887610	Silent	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	2930916	9887610	68189638	336	21534											
ST8SIA3	51046	broad.mit.edu	37	chr18	55020120	55020120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcgccagtgtgctggggCtggtcatgctcagcgtcgcc	3	9	17	12	3	2	0	2	0	0	0	4	0	2	0	2	4	3	3	2	4	0	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr18:55020120C>T	ENST00000324000.3	+	1	2077	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	15					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TGTGCTGGGGCTGGTCATGCT	0.597													22	20					0	0	0	0	T	55020120	C	T	55020120	2	4	112	1	0	0	0	0	0	0	0	1	15323	796	28	4		4	ST8SIA3	18	55020120	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	45132510	55020120	23057128	337	21535											
SF3A2	8175	broad.mit.edu	37	chr19	2248382	2248402	+	In_Frame_Del	DEL	CTCCCGGGGTCCATCCGTCGG	CTCCCGGGGTCCATCCGTCGG	-																															cccgggggtccacccccaacCtcccggggtccatccgtcgg																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:2248382_2248402delCTCCCGGGGTCCATCCGTCGG	ENST00000221494.4	+	9	1650_1670	c.1232_1252delCTCCCGGGGTCCATCCGTCGG	c.(1231-1254)cct>c	p.PPGVHPSA411del		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	411	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		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)		CACCCCCAACCTCCCGGGGTCCATCCGTCGGCTCCTGGGGT	0.719													2	4	---	---	---	---					-	2248402	CTCCCGGGGTCCATCCGTCGG	-	2248382	7	5	112	1	0	1	0	1	0	0	0	0	14234	681	24	0	1262	0	SF3A2	19	2248382	In_Frame_Del	DEL	CTCCCGGGGTCCATCCGTCGG	TCGA-CN-A497-01A-11D-A24D-08		2248382	56880601	338	21536											
TLE6	79816	broad.mit.edu	37	chr19	2991911	2991911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaacatctggactgggggtCcggatgcctgtctgcggtgc	6	9	15	11	2	2	0	0	0	2	0	3	2	3	2	2	5	4	0	2	5	1	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:2991911C>T	ENST00000246112.4	+	14	1516	c.1315C>T	c.(1315-1317)Ccg>Tcg	p.P439S	TLE6_ENST00000452088.1_Missense_Mutation_p.P316S	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	316					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		GACTGGGGGTCCGGATGCCTG	0.577													16	36					0	0	0	0	T	2991911	C	T	2991911	3	4	112	1	0	0	0	0	1	0	0	0	16036	855	30	2	1365	2	TLE6	19	2991911	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	743529	2991911	56137072	339	21537											
DENND1C	79958	broad.mit.edu	37	chr19	6478988	6478988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtacccgcccgcaggcGgcagaaaccaaatctgcggt	9	5	13	14	4	1	1	0	0	1	1	1	1	1	1	3	4	3	3	3	4	3	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:6478988G>T	ENST00000381480.2	-	5	368	c.256C>A	c.(256-258)Cgc>Agc	p.R86S	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.R42S	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	86	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCCCGCAGGCGGCAGAAACCA	0.647													14	54					0.000219431	0.000251763	1	0	T	6478988	G	T	6478988	3	4	112	1	0	0	0	0	1	0	0	0	4465	1116	39	3	2225	3	DENND1C	19	6478988	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	3487077	6478988	52649995	340	21538											
ADAMTS10	81794	broad.mit.edu	37	chr19	8657003	8657003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccactgggtggggggagaCaggaaggagtgagtccagcc	10	4	18	9	0	0	2	0	1	0	1	1	5	1	4	3	6	1	0	3	6	1	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:8657003C>A	ENST00000595838.1	-	1	77	c.44G>T	c.(43-45)tGt>tTt	p.C15F	ADAMTS10_ENST00000270328.4_Intron|ADAMTS10_ENST00000597188.1_Intron			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	931					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGGGGGGAGACAGGAAGGAGT	0.677													11	34					1.58986e-06	1.98733e-06	1	0	A	8657003	C	A	8657003	3	1	112	1	0	0	0	0	1	0	0	0	256	493	17	4		4	ADAMTS10	19	8657003	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	2178015	8657003	50471980	341	21539											
MUC16	94025	broad.mit.edu	37	chr19	9058463	9058463	+	Frame_Shift_Del	DEL	G	G	-																															taacctgtttgggtggtgatGgttatttctgcagattctgt																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:9058463delG	ENST00000397910.4	-	3	29186	c.28983delC	c.(28981-28983)acfs	p.T9661fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9663	Ser-rich.|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						GGGTGGTGATGGTTATTTCTG	0.498													16	27	---	---	---	---					-	9058463	G	-	9058463	7	5	112	1	0	1	0	1	0	0	0	0	10043	1335	47	0	14868	0	MUC16	19	9058463	Frame_Shift_Del	DEL	G	TCGA-CN-A497-01A-11D-A24D-08	401460	9058463	50070520	342	21540											
MUC16	94025	broad.mit.edu	37	chr19	9062836	9062836	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtagacccaggaggatctgTttgtgtcttgatcatcattt	8	16	10	7	0	4	2	2	1	2	1	4	4	4	4	1	2	0	2	1	2	1	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:9062836T>C	ENST00000397910.4	-	3	24813	c.24610A>G	c.(24610-24612)Aca>Gca	p.T8204A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8206	Ser-rich.|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						GGAGGATCTGTTTGTGTCTTG	0.468													15	24					0	0	0	0	C	9062836	T	C	9062836	3	2	112	1	0	0	0	0	1	0	0	0	10043	1725	60	5	19241	5	MUC16	19	9062836	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	4373	9062836	50066147	343	21541											
TYK2	7297	broad.mit.edu	37	chr19	10463625	10463625	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacggggctgtccccatcCtcgcgcacgcggtagtactc	7	7	11	16	5	0	0	0	0	0	0	4	0	2	0	3	3	2	4	3	3	3	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:10463625C>G	ENST00000525621.1	-	22	3658	c.3177G>C	c.(3175-3177)gaG>gaC	p.E1059D	TYK2_ENST00000264818.6_Missense_Mutation_p.E1059D|TYK2_ENST00000529422.1_Intron|TYK2_ENST00000524462.1_Missense_Mutation_p.E874D	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1059	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGTCCCCATCCTCGCGCACGC	0.652													29	42					0	0	0	0	G	10463625	C	G	10463625	3	3	112	1	0	0	0	0	1	0	0	0	16906	680	24	4	402	4	TYK2	19	10463625	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	1400789	10463625	48665358	344	21542											
QTRT1	81890	broad.mit.edu	37	chr19	10823233	10823233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctgcaaccccagctatGccactgatctggtagtctgc	8	10	10	13	0	2	1	0	1	2	0	2	1	2	1	3	2	5	4	3	2	3	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:10823233G>A	ENST00000250237.5	+	7	800	c.790G>A	c.(790-792)Gcc>Acc	p.A264T		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	264					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CCCCAGCTATGCCACTGATCT	0.627													45	69					0	0	0	0	A	10823233	G	A	10823233	3	1	112	1	0	0	0	0	1	0	0	0	12967	1319	46	4	816	4	QTRT1	19	10823233	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	359608	10823233	48305750	345	21543											
AKAP8	10270	broad.mit.edu	37	chr19	15483734	15483734	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctgtcatagccgcccgcCccctgcatgcccatcacgcc	5	7	9	20	3	2	0	2	0	0	0	2	0	2	0	6	0	4	2	6	0	1	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:15483734C>G	ENST00000269701.2	-	5	849	c.789G>C	c.(787-789)ggG>ggC	p.G263G		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	263					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AGCCGCCCGCCCCCTGCATGC	0.701													8	15					0	0	0	0	G	15483734	C	G	15483734	2	3	112	1	0	0	0	0	0	0	0	1	457	610	22	4		4	AKAP8	19	15483734	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	4660501	15483734	43645249	346	21544											
HAPLN4	404037	broad.mit.edu	37	chr19	19368833	19368833	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctccgcagcgcgctcgcggGttcacgatggggtagcgcgc	4	6	16	15	8	1	0	1	0	0	0	3	1	2	0	2	3	2	4	2	3	1	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:19368833G>C	ENST00000291481.7	-	5	1065	c.1002C>G	c.(1000-1002)aaC>aaG	p.N334K	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	334	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GCGCTCGCGGGTTCACGATGG	0.716													4	9					0	0	0	0	C	19368833	G	C	19368833	3	2	112	1	0	0	0	0	1	0	0	0	7007	1252	44	4	210	4	HAPLN4	19	19368833	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	3885099	19368833	39760150	347	21545											
ZNF676	163223	broad.mit.edu	37	chr19	22363620	22363620	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctccagtatgaattctcTtatgttccatgagctttgag	8	17	7	9	0	2	3	0	3	2	0	6	3	4	3	2	0	1	3	2	0	3	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:22363620T>A	ENST00000397121.2	-	3	1216	c.899A>T	c.(898-900)aAg>aTg	p.K300M		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATGAATTCTCTTATGTTCCAT	0.433													11	24					0	0	0	0	A	22363620	T	A	22363620	3	1	112	1	0	0	0	0	1	0	0	0	18178	1609	56	5	871	5	ZNF676	19	22363620	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	2994787	22363620	36765363	348	21546											
TSHZ3	57616	broad.mit.edu	37	chr19	31767880	31767880	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatggtggtcatggacagcCcggtgaacctggagatatgc	9	9	15	8	1	1	3	1	2	0	1	1	5	1	4	2	5	3	0	2	5	2	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:31767880C>A	ENST00000240587.4	-	2	3146	c.2819G>T	c.(2818-2820)gGg>gTg	p.G940V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	940					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G757V(1)|p.G940V(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CATGGACAGCCCGGTGAACCT	0.572													11	17					9.70103e-10	1.34736e-09	1	0	A	31767880	C	A	31767880	3	1	112	1	0	0	0	0	1	0	0	0	16720	623	22	4	430	4	TSHZ3	19	31767880	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	9404260	31767880	27361103	349	21547											
FAM187B	148109	broad.mit.edu	37	chr19	35719114	35719114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcgtttacactcgcccGgctcctcacagcggttgcag	6	8	11	16	4	1	0	1	0	0	0	3	0	2	0	3	3	3	4	3	3	1	3	rs147533788		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:35719114G>T	ENST00000324675.3	-	1	518	c.470C>A	c.(469-471)cCg>cAg	p.P157Q		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	157						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						ACACTCGCCCGGCTCCTCACA	0.607													28	58					1.16021e-09	1.59277e-09	1	0	T	35719114	G	T	35719114	3	4	112	1	0	0	0	0	1	0	0	0	5555	1116	39	3	647	3	FAM187B	19	35719114	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	3951234	35719114	23409869	350	21548											
ATP1A3	478	broad.mit.edu	37	chr19	42489283	42489283	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctgatgccagggtggcGatacggcccatgacagtgcg	8	6	15	12	3	0	2	0	2	0	0	0	3	0	2	3	3	4	0	3	3	1	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:42489283G>T	ENST00000545399.1	-	8	972	c.819C>A	c.(817-819)atC>atA	p.I273I	ATP1A3_ENST00000302102.5_Silent_p.I260I|ATP1A3_ENST00000602133.1_Silent_p.I230I|ATP1A3_ENST00000543770.1_Silent_p.I271I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	260					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGGGTGGCGATACGGCCCA	0.672													7	23					5.18039e-06	6.29331e-06	1	0	T	42489283	G	T	42489283	2	4	112	1	0	0	0	0	0	0	0	1	1134	1048	37	3		3	ATP1A3	19	42489283	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	6770169	42489283	16639700	351	21549											
ZNF235	9310	broad.mit.edu	37	chr19	44792899	44792899	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaactttatctcttttgTgcactatattatcatcatgg	10	19	5	7	0	3	1	2	1	1	0	4	1	3	1	0	1	2	1	0	1	6	8			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:44792899T>A	ENST00000291182.4	-	5	791	c.689A>T	c.(688-690)cAc>cTc	p.H230L	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ATCTCTTTTGTGCACTATATT	0.358													10	23					0	0	0	0	A	44792899	T	A	44792899	3	1	112	1	0	0	0	0	1	0	0	0	17883	1696	59	5	1531	5	ZNF235	19	44792899	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	2303616	44792899	14336084	352	21550											
ZNF180	7733	broad.mit.edu	37	chr19	44982102	44982102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagactggaattcagaccaCtcttctccccagtttcatca	11	12	5	13	0	5	2	3	0	2	2	6	3	5	3	3	1	0	1	3	1	2	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:44982102C>A	ENST00000221327.4	-	5	877	c.596G>T	c.(595-597)aGt>aTt	p.S199I	ZNF180_ENST00000586637.1_3'UTR|ZNF180_ENST00000592529.1_Missense_Mutation_p.S172I|ZNF180_ENST00000391956.4_Missense_Mutation_p.S174I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ATTCAGACCACTCTTCTCCCC	0.383													8	27					0.000274275	0.000309455	1	0	A	44982102	C	A	44982102	3	1	112	1	0	0	0	0	1	0	0	0	17843	565	20	4	1486	4	ZNF180	19	44982102	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	189203	44982102	14146881	353	21551											
ZNF296	162979	broad.mit.edu	37	chr19	45579617	45579617	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggggcgcgctgccggcCttgcggcgggacatgagtcg	3	5	20	13	8	0	1	0	1	0	0	1	2	0	2	2	6	2	1	2	6	0	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:45579617C>T	ENST00000303809.2	-	1	229	c.15G>A	c.(13-15)aaG>aaA	p.K5K		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	5					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CGCTGCCGGCCTTGCGGCGGG	0.751													33	42					0	0	0	0	T	45579617	C	T	45579617	2	4	112	1	0	0	0	0	0	0	0	1	17923	680	24	4		4	ZNF296	19	45579617	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	597515	45579617	13549366	354	21552											
ZNF473	25888	broad.mit.edu	37	chr19	50549456	50549457	+	Frame_Shift_Ins	INS	-	-	G																															gcacgagaggattcacaccaINSggggagtgaagccctttgaa																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:50549456_50549457insG	ENST00000595661.1	+	6	2251_2252	c.1756_1757insG	c.(1756-1758)gggfs	p.G586fs	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Frame_Shift_Ins_p.G574fs|ZNF473_ENST00000391821.2_Frame_Shift_Ins_p.G586fs|ZNF473_ENST00000270617.3_Frame_Shift_Ins_p.G586fs|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	586					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GATTCACACCAGGGGAGTGAAG	0.455													11	18	---	---	---	---					G	50549457	-	G	50549456	7	5	112	1	0	1	1	0	0	0	0	0	18026	179	7	0	1770	0	ZNF473	19	50549456	Frame_Shift_Ins	INS	-	TCGA-CN-A497-01A-11D-A24D-08	4969839	50549456	8579527	355	21553											
LILRA5	353514	broad.mit.edu	37	chr19	54823884	54823884	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcagatggatgagacCatggtgcctggcaggacaga	10	7	16	8	0	0	3	0	1	0	3	0	6	0	5	2	4	2	3	2	4	0	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:54823884C>T	ENST00000301219.3	-	2	130	c.11G>A	c.(10-12)tGg>tAg	p.W4*	LILRA5_ENST00000432233.3_Nonsense_Mutation_p.W4*|LILRA5_ENST00000346508.3_Nonsense_Mutation_p.W4*|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Nonsense_Mutation_p.W4*	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	4					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGATGAGACCATGGTGCCTG	0.587													7	13					0	0	0	0	T	54823884	C	T	54823884	4	4	112	1	0	0	0	0	0	1	0	0	8842	595	21	4	998	4	LILRA5	19	54823884	Nonsense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	4274428	54823884	4305099	356	21554											
TMEM150B	284417	broad.mit.edu	37	chr19	55831443	55831443	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaggtgcccagggcacaCagaagacccgtccataggat	12	4	13	12	2	0	2	0	0	0	2	1	4	1	4	3	4	1	1	3	4	2	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:55831443C>A	ENST00000326652.4	-	6	470	c.288G>T	c.(286-288)ctG>ctT	p.L96L	TMEM150B_ENST00000438693.1_Silent_p.L96L			A6NC51	T150B_HUMAN	transmembrane protein 150B	96						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						CCAGGGCACACAGAAGACCCG	0.627													29	50					3.65163e-15	5.57725e-15	1	0	A	55831443	C	A	55831443	2	1	112	1	0	0	0	0	0	0	0	1	16162	465	17	4		4	TMEM150B	19	55831443	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	1007559	55831443	3297540	357	21555											
NLRP5	126206	broad.mit.edu	37	chr19	56539100	56539100	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccaaacgctcacaggcCtgcacgccgcttttgtgttt	8	11	8	14	3	2	0	2	0	0	0	2	0	2	0	3	1	3	4	3	1	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:56539100C>T	ENST00000390649.3	+	7	1501	c.1501C>T	c.(1501-1503)Ctg>Ttg	p.L501L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	501	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCTCACAGGCCTGCACGCCGC	0.632													18	22					0	0	0	0	T	56539100	C	T	56539100	2	4	112	1	0	0	0	0	0	0	0	1	10550	680	24	4		4	NLRP5	19	56539100	Silent	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	707657	56539100	2589883	358	21556											
ZNF667	63934	broad.mit.edu	37	chr19	56973706	56973706	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaagaggaattgccacttaCcttggatttggatttccccc	9	12	10	10	0	0	1	0	0	0	1	1	5	1	5	4	4	2	0	4	4	3	5			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:56973706C>G	ENST00000591790.1	-	2	1462		c.e2+1		ZNF667_ENST00000504904.3_Splice_Site|ZNF667_ENST00000342634.3_Splice_Site|ZNF667_ENST00000292069.6_Splice_Site			Q5HYK9	ZN667_HUMAN	zinc finger protein 667						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTGCCACTTACCTTGGATTTG	0.537													22	78					0	0	0	0	G	56973706	C	G	56973706	5	3	112	1	0	0	0	0	0	0	1	0	18169	521	18	4	1814	4	ZNF667	19	56973706	Splice_Site	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	434606	56973706	2155277	359	21557											
ZNF548	147694	broad.mit.edu	37	chr19	57910124	57910124	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagatcttcacatgcatgGagggctggaaggacttacca	12	8	13	8	0	2	1	1	0	1	1	2	5	2	4	1	5	2	2	1	5	2	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:57910124G>T	ENST00000366197.5	+	3	719	c.469G>T	c.(469-471)Gag>Tag	p.E157*	ZNF548_ENST00000336128.7_Nonsense_Mutation_p.E169*|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		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;0.026)		CACATGCATGGAGGGCTGGAA	0.517													27	17					2.47511e-08	3.26577e-08	1	0	T	57910124	G	T	57910124	4	4	112	1	0	0	0	0	0	1	0	0	18075	1175	41	2	519	2	ZNF548	19	57910124	Nonsense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	936418	57910124	1218859	360	21558											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596713	58596713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggggcggcctcctcgcagGcgcacccagcgctctcctgc	3	5	14	19	5	1	0	0	0	1	0	4	0	2	0	4	4	2	3	4	4	0	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:58596713G>T	ENST00000240727.6	-	7	1271	c.872C>A	c.(871-873)gCc>gAc	p.A291D	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A155D|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A291D|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A347D	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	291					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTCCTCGCAGGCGCACCCAGC	0.746													20	53					1.00905e-13	1.51676e-13	1	0	T	58596713	G	T	58596713	3	4	112	1	0	0	0	0	1	0	0	0	18322	1203	42	4	664	4	ZSCAN18	19	58596713	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	686589	58596713	532270	361	21559											
TGM6	343641	broad.mit.edu	37	chr20	2377207	2377207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagtacgtgctcagcgaCagcggcatcatcttccgagg	9	7	13	12	4	3	0	2	0	1	0	4	3	4	1	1	3	4	3	1	3	1	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:2377207C>A	ENST00000202625.2	+	4	541	c.480C>A	c.(478-480)gaC>gaA	p.D160E	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.D160E	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	160					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TGCTCAGCGACAGCGGCATCA	0.612													9	30					0.335167	0.338733	1	0	A	2377207	C	A	2377207	3	1	112	1	0	0	0	0	1	0	0	0	15928	477	17	4	494	4	TGM6	20	2377207	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08		2377207	60648313	362	21560											
PAX1	5075	broad.mit.edu	37	chr20	21687211	21687211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatcagtcggcagctccGcgtatcccacggctgcgtga	7	8	12	14	5	1	2	1	2	0	0	4	2	3	2	2	2	2	4	2	2	1	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:21687211G>T	ENST00000398485.2	+	2	476	c.422G>T	c.(421-423)cGc>cTc	p.R141L	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.R117L	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	141	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGGCAGCTCCGCGTATCCCAC	0.677													24	66					3.08376e-08	4.04637e-08	1	0	T	21687211	G	T	21687211	3	4	112	1	0	0	0	0	1	0	0	0	11549	1087	38	3	428	3	PAX1	20	21687211	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	19310004	21687211	41338309	363	21561											
CD93	22918	broad.mit.edu	37	chr20	23065896	23065896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcacgtggcccccccacGacatgggctggagctgcaag	8	4	14	15	3	0	0	0	0	0	0	0	3	0	1	3	3	2	4	3	3	1	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:23065896G>T	ENST00000246006.4	-	1	1081	c.934C>A	c.(934-936)Cgt>Agt	p.R312S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	312	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCCCCCCACGACATGGGCTG	0.647													22	53					1.87028e-06	2.32561e-06	1	0	T	23065896	G	T	23065896	3	4	112	1	0	0	0	0	1	0	0	0	3076	1058	37	3	1032	3	CD93	20	23065896	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	1378685	23065896	39959624	364	21562											
HNF4A	3172	broad.mit.edu	37	chr20	43030034	43030034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgactctccaaaaccctcGtcgacatggacatggccgac	10	7	9	15	4	1	0	0	0	1	0	4	4	1	1	3	2	2	0	3	2	2	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:43030034G>A	ENST00000316099.3	+	1	111	c.22G>A	c.(22-24)Gtc>Atc	p.V8I	HNF4A_ENST00000415691.1_Missense_Mutation_p.V8I|HNF4A_ENST00000443598.2_Missense_Mutation_p.V8I|HNF4A_ENST00000457232.1_Intron	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	8					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAAAACCCTCGTCGACATGGA	0.642													44	58					0	0	0	0	A	43030034	G	A	43030034	3	1	112	1	0	0	0	0	1	0	0	0	7303	1145	40	1	77	1	HNF4A	20	43030034	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	19964138	43030034	19995486	365	21563											
TNNC2	7125	broad.mit.edu	37	chr20	44453474	44453474	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagcctgctggtccgtCtgcaggagacacagagaaag	10	6	13	12	1	2	2	1	0	1	2	3	4	3	2	3	2	3	2	3	2	1	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:44453474C>A	ENST00000372557.1	-	3	166		c.e3-1		TNNC2_ENST00000372555.3_Splice_Site			P02585	TNNC2_HUMAN	troponin C type 2 (fast)						muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				GCTGGTCCGTCTGCAGGAGAC	0.612													34	75					2.2871e-25	3.73323e-25	1	0	A	44453474	C	A	44453474	5	1	112	1	0	0	0	0	0	0	1	0	16419	927	32	2	499	2	TNNC2	20	44453474	Splice_Site	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	1423440	44453474	18572046	366	21564											
PREX1	57580	broad.mit.edu	37	chr20	47273679	47273679	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacggccgcaggaacaccagGtcctcattgatggagtagat	12	7	12	10	2	1	2	1	1	0	1	2	4	2	4	3	4	2	2	3	4	3	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:47273679G>C	ENST00000396220.1	-	18	2044	c.2022C>G	c.(2020-2022)gaC>gaG	p.D674E	PREX1_ENST00000371941.3_Missense_Mutation_p.D674E			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	674	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGAACACCAGGTCCTCATTGA	0.612											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	15					0	0	0	0	C	47273679	G	C	47273679	3	2	112	1	0	0	0	0	1	0	0	0	12556	1252	44	4	3049	4	PREX1	20	47273679	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	2820205	47273679	15751841	367	21565											
DOK5	55816	broad.mit.edu	37	chr20	53266975	53266975	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttccagccctctgaagcTtcatcgaacagagacttttc	9	13	7	12	1	2	2	1	1	1	1	5	4	3	2	2	0	3	2	2	0	2	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:53266975T>C	ENST00000262593.5	+	8	1228	c.878T>C	c.(877-879)cTt>cCt	p.L293P	DOK5_ENST00000395939.1_Missense_Mutation_p.L185P	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	293							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CCTCTGAAGCTTCATCGAACA	0.403													9	20					0	0	0	0	C	53266975	T	C	53266975	3	2	112	1	0	0	0	0	1	0	0	0	4736	1609	56	5	908	5	DOK5	20	53266975	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	5993296	53266975	9758545	368	21566											
CTCFL	140690	broad.mit.edu	37	chr20	56094387	56094387	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgattaaaacttgacattctAgaagaggtgaacatgcagac	16	9	9	7	1	1	5	0	2	1	3	1	6	1	5	0	1	3	1	0	1	5	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:56094387A>G	ENST00000426658.2	-	3	1462	c.801T>C	c.(799-801)tcT>tcC	p.S267S	CTCFL_ENST00000433949.2_Silent_p.S267S|CTCFL_ENST00000502686.2_Silent_p.S5S|CTCFL_ENST00000243914.3_Silent_p.S267S|CTCFL_ENST00000423479.2_Silent_p.S267S|CTCFL_ENST00000539382.1_Silent_p.S62S|CTCFL_ENST00000371196.2_Silent_p.S267S|CTCFL_ENST00000429804.2_Silent_p.S267S|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000432255.2_Silent_p.S267S|CTCFL_ENST00000422109.2_Silent_p.S267S|CTCFL_ENST00000422869.2_Silent_p.S267S			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	267					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTGACATTCTAGAAGAGGTGA	0.418													25	56					0	0	0	0	G	56094387	A	G	56094387	2	3	112	1	0	0	0	0	0	0	0	1	4033	407	15	5		5	CTCFL	20	56094387	Silent	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	2827412	56094387	6931133	369	21567											
CTCFL	140690	broad.mit.edu	37	chr20	56099177	56099177	+	Frame_Shift_Del	DEL	C	C	-																															cactccgtctttttcctcctCcttcaggcctttttccggca																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:56099177delC	ENST00000426658.2	-	1	746	c.85delG	c.(85-87)agfs	p.E31fs	CTCFL_ENST00000423479.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.E31fs			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	31					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTTTCCTCCTCCTTCAGGCCT	0.532													64	168	---	---	---	---					-	56099177	C	-	56099177	7	5	112	1	0	1	0	1	0	0	0	0	4033	864	30	0	1946	0	CTCFL	20	56099177	Frame_Shift_Del	DEL	C	TCGA-CN-A497-01A-11D-A24D-08	4790	56099177	6926343	370	21568											
TPTE	7179	broad.mit.edu	37	chr21	10906977	10906977	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccacggcaaaatctgaTggataaattctccgtgcttt	11	13	7	10	2	3	1	0	1	3	0	5	2	3	2	2	2	1	2	2	2	4	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:10906977T>A	ENST00000298232.7	-	23	1897	c.1530A>T	c.(1528-1530)ccA>ccT	p.P510P	TPTE_ENST00000361285.4_Silent_p.P528P|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.P490P	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	528	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAAATCTGATGGATAAATTC	0.358													4	25					0	0	0	0	A	10906977	T	A	10906977	2	1	112	1	0	0	0	0	0	0	0	1	16525	1451	51	5		5	TPTE	21	10906977	Silent	SNP	T	TCGA-CN-A497-01A-11D-A24D-08		10906977	37222918	371	21569											
BAGE2	85319	broad.mit.edu	37	chr21	11098892	11098892	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctcctggtcctctaagccgGgaacagagcagctcagcggg	8	7	13	13	2	3	1	1	0	2	1	5	2	4	2	3	3	5	2	3	3	2	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:11098892G>T	ENST00000470054.1	-	0	33									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ctctaagccgggaacagagca	0.597													4	17					0.00024832	0.000282859	1	0	T	11098892	G	T	11098892	1	4	112	0	1	0	0	0	0	0	0	0	1296	1247	43	4		4	BAGE2	21	11098892	RNA	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	191915	11098892	37031003	372	21570											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768565	31768565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggttcctctctctataGgggctgtcagcagacctgct	5	12	12	12	0	3	1	1	0	2	1	5	1	4	1	2	3	2	5	2	3	2	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:31768565G>T	ENST00000355459.2	+	1	174	c.161G>T	c.(160-162)aGg>aTg	p.R54M		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	54	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCTCTATAGGGGCTGTCAG	0.612													26	41					1.1804e-14	1.79708e-14	1	0	T	31768565	G	T	31768565	3	4	112	1	0	0	0	0	1	0	0	0	8574	1000	35	4	163	4	KRTAP13-1	21	31768565	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	20669673	31768565	16361330	373	21571											
SYNJ1	8867	broad.mit.edu	37	chr21	34066606	34066606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgaaggaagaaactgagtCatctaagtacacaacctaca	18	8	7	8	0	2	3	1	2	1	1	2	4	2	4	1	1	4	1	1	1	8	4			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:34066606C>T	ENST00000382499.2	-	6	837	c.838G>A	c.(838-840)Gac>Aac	p.D280N	SYNJ1_ENST00000433931.2_Missense_Mutation_p.D280N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D241N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D241N|SYNJ1_ENST00000357345.3_Missense_Mutation_p.D241N	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	241	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GAAACTGAGTCATCTAAGTAC	0.313													3	9					0	0	0	0	T	34066606	C	T	34066606	3	4	112	1	0	0	0	0	1	0	0	0	15543	826	29	2	4142	2	SYNJ1	21	34066606	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	2298041	34066606	14063289	374	21572											
BRWD1	54014	broad.mit.edu	37	chr21	40558961	40558961	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatagtcactattgtgcAttttctttccaggatctgaa	9	17	6	9	0	4	1	2	1	3	0	6	2	5	2	1	1	1	1	1	1	3	6			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:40558961A>G	ENST00000333229.2	-	42	7281	c.6954T>C	c.(6952-6954)aaT>aaC	p.N2318N		NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTATTGTGCATTTTCTTTCC	0.353													9	26					0	0	0	0	G	40558961	A	G	40558961	2	3	112	1	0	0	0	0	0	0	0	1	1533	214	8	5		5	BRWD1	21	40558961	Silent	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	6492355	40558961	7570934	375	21573											
MCM3AP	8888	broad.mit.edu	37	chr21	47681227	47681228	+	Frame_Shift_Ins	INS	-	-	TTCG																															ccgctgcctctcctgctcccINSttcgctctctttccttagac																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:47681227_47681228insTTCG	ENST00000397708.1	-	15	3687_3688	c.3433_3434insCGAA	c.(3433-3435)ggafs	p.G1145fs	MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.G1145fs			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1145					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCCTGCTCCCTTCGCTCTCTT	0.5													41	123	---	---	---	---					TTCG	47681228	-	TTCG	47681227	7	5	112	1	0	1	1	0	0	0	0	0	9457	681	24	0	2568	0	MCM3AP	21	47681227	Frame_Shift_Ins	INS	-	TCGA-CN-A497-01A-11D-A24D-08	7122266	47681227	448668	376	21574											
ADRBK2	157	broad.mit.edu	37	chr22	26083503	26083503	+	Splice_Site	DEL	G	G	-																															aaattctgaatctgattccaGggggcgatttgcactaccac																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr22:26083503delG	ENST00000324198.5	+	11	1018		c.e11-1			NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2								ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TCTGATTCCAGGGGGCGATTT	0.403													8	20	---	---	---	---					-	26083503	G	-	26083503	8	5	112	1	0	1	0	1	0	0	1	0	344	1014	35	0	868	0	ADRBK2	22	26083503	Splice_Site	DEL	G	TCGA-CN-A497-01A-11D-A24D-08		26083503	25221063	377	21575											
ADM2	79924	broad.mit.edu	37	chr22	50921379	50921379	+	Frame_Shift_Del	DEL	C	C	-																															atcccagccagggtgctgtgCccccgtccagagctgcagct																										TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr22:50921379delC	ENST00000362068.2	+	2	759	c.244delC	c.(244-246)ccfs	p.P83fs	ADM2_ENST00000395738.2_3'UTR			Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	0					positive regulation of angiogenesis	extracellular region	hormone activity			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGTGCTGTGCCCCCGTCCAG	0.677													4	4	---	---	---	---					-	50921379	C	-	50921379	7	5	112	1	0	1	0	1	0	0	0	0	322	754	26	0		0	ADM2	22	50921379	Frame_Shift_Del	DEL	C	TCGA-CN-A497-01A-11D-A24D-08	24837876	50921379	383187	378	21576											
BEND2	139105	broad.mit.edu	37	chrX	18221633	18221633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaactcacccaaattgggatGgaagcagaaagatgacaagg	18	5	11	7	0	1	3	1	1	0	2	1	5	1	5	1	3	2	1	1	3	5	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:18221633G>T	ENST00000380033.4	-	5	1027	c.895C>A	c.(895-897)Cat>Aat	p.H299N	BEND2_ENST00000380030.3_Missense_Mutation_p.H299N	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	299										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAATTGGGATGGAAGCAGAAA	0.383													12	9					0.000978159	0.00108052	1	0	T	18221633	G	T	18221633	3	4	112	1	0	0	0	0	1	0	0	0	1402	1348	47	4	1570	4	BEND2	23	18221633	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08		18221633	137048927	379	21577											
MAGEB6	158809	broad.mit.edu	37	chrX	26212373	26212373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagatgagaaaagtccaaGcacttcccatgatgtctccg	13	8	8	12	1	1	3	0	2	1	2	4	4	3	3	4	0	1	1	4	0	4	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:26212373G>T	ENST00000379034.1	+	2	559	c.410G>T	c.(409-411)aGc>aTc	p.S137I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	137	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAAAGTCCAAGCACTTCCCAT	0.537													9	4					3.09899e-07	3.94643e-07	1	0	T	26212373	G	T	26212373	3	4	112	1	0	0	0	0	1	0	0	0	9248	971	34	4	412	4	MAGEB6	23	26212373	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	7990740	26212373	129058187	380	21578											
ZCCHC13	389874	broad.mit.edu	37	chrX	73524174	73524174	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgccctagaggaggagctGgagggcgaagaggtggaggc	10	4	21	6	1	0	2	0	0	0	2	0	8	0	6	1	7	2	1	1	7	2	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:73524174G>C	ENST00000339534.2	+	1	150	c.73G>C	c.(73-75)Gga>Cga	p.G25R		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	25							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AGGAGGAGCTGGAGGGCGAAG	0.557													4	4					0	0	0	0	C	73524174	G	C	73524174	3	2	112	1	0	0	0	0	1	0	0	0	17677	1349	47	4	75	4	ZCCHC13	23	73524174	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	47311801	73524174	81746386	381	21579											
KIAA2022	340533	broad.mit.edu	37	chrX	73962345	73962345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatccatttgcacagctagGagcacccagaggtgctgact	10	9	11	11	0	0	3	0	2	0	1	1	4	1	4	2	2	4	4	2	2	1	2			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:73962345G>T	ENST00000373468.1	-	3	2698	c.2047C>A	c.(2047-2049)Cct>Act	p.P683T	KIAA2022_ENST00000055682.5_Missense_Mutation_p.P683T			Q5QGS0	K2022_HUMAN	KIAA2022	683					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCACAGCTAGGAGCACCCAGA	0.438													8	7					5.18039e-06	6.29331e-06	1	0	T	73962345	G	T	73962345	3	4	112	1	0	0	0	0	1	0	0	0	8320	1174	41	2	2511	2	KIAA2022	23	73962345	Missense_Mutation	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	438171	73962345	81308215	382	21580											
ZDHHC15	158866	broad.mit.edu	37	chrX	74644541	74644541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtaaccaaagagaatcaCaaggctgacaaaaaacatgc	20	5	8	8	0	1	2	1	1	0	1	1	3	1	2	1	2	3	2	1	2	7	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:74644541C>A	ENST00000541184.1	-	7	1132	c.655G>T	c.(655-657)Gtg>Ttg	p.V219L	ZDHHC15_ENST00000373361.3_Missense_Mutation_p.L187F|ZDHHC15_ENST00000373367.3_Missense_Mutation_p.V228L	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	228						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AAGAGAATCACAAGGCTGACA	0.363													6	2					0.0215528	0.0224017	1	0	A	74644541	C	A	74644541	3	1	112	1	0	0	0	0	1	0	0	0	17700	478	17	4	347	4	ZDHHC15	23	74644541	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	682196	74644541	80626019	383	21581											
RIPPLY1	92129	broad.mit.edu	37	chrX	106144713	106144713	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcttacctgacagggTgatggaacttggattcagcc	11	9	12	9	0	1	3	1	2	0	1	1	5	1	5	2	3	4	1	2	3	3	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:106144713T>A	ENST00000276173.4	-	3	316	c.287A>T	c.(286-288)cAc>cTc	p.H96L	RIPPLY1_ENST00000411805.1_Intron|CLDN2_ENST00000541806.1_Intron	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN	ripply transcriptional repressor 1	96	Ripply homology domain.				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus				lung(1)|urinary_tract(1)	2						CCTGACAGGGTGATGGAACTT	0.502													20	13					0	0	0	0	A	106144713	T	A	106144713	3	1	112	1	0	0	0	0	1	0	0	0	13469	1696	59	5	176	5	RIPPLY1	23	106144713	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	31500172	106144713	49125847	384	21582											
CAPN6	827	broad.mit.edu	37	chrX	110496308	110496308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agaaagagaagaccagatctCcgttaatggtgggcaacaag	16	6	12	7	1	1	4	0	0	1	4	2	5	1	4	2	2	1	2	2	2	5	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:110496308C>G	ENST00000324068.1	-	4	601	c.434G>C	c.(433-435)gGa>gCa	p.G145A	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	145	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GACCAGATCTCCGTTAATGGT	0.408													19	14					0	0	0	0	G	110496308	C	G	110496308	3	3	112	1	0	0	0	0	1	0	0	0	2655	855	30	2	1531	2	CAPN6	23	110496308	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	4351595	110496308	44774252	385	21583											
ARHGAP36	158763	broad.mit.edu	37	chrX	130217856	130217856	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcggggaaacgtggtgcgAagggtgtttggccgcatccg	6	8	18	9	6	0	0	0	0	0	0	2	2	1	1	2	5	2	2	2	5	2	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:130217856A>G	ENST00000276211.5	+	4	813	c.468A>G	c.(466-468)cgA>cgG	p.R156R	ARHGAP36_ENST00000370921.1_Silent_p.R20R|ARHGAP36_ENST00000370922.1_Silent_p.R144R	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	156	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ACGTGGTGCGAAGGGTGTTTG	0.622													49	16					0	0	0	0	G	130217856	A	G	130217856	2	3	112	1	0	0	0	0	0	0	0	1	885	233	9	5		5	ARHGAP36	23	130217856	Silent	SNP	A	TCGA-CN-A497-01A-11D-A24D-08	19721548	130217856	25052704	386	21584											
TFDP3	51270	broad.mit.edu	37	chrX	132351159	132351159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtctccaccctggagcCactgtactgagatccaccgg	7	8	12	14	1	1	1	0	1	1	1	3	3	2	2	5	4	2	1	5	4	1	1			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:132351159C>A	ENST00000310125.4	-	1	1217	c.1129G>T	c.(1129-1131)Ggc>Tgc	p.G377C		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	377						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					ACCCTGGAGCCACTGTACTGA	0.577													31	25					1.74807e-11	2.51616e-11	1	0	A	132351159	C	A	132351159	3	1	112	1	0	0	0	0	1	0	0	0	15893	594	21	4	92	4	TFDP3	23	132351159	Missense_Mutation	SNP	C	TCGA-CN-A497-01A-11D-A24D-08	2133303	132351159	22919401	387	21585											
MCF2	4168	broad.mit.edu	37	chrX	138714555	138714555	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtctgtgaacgttcgtTgaagaaagctggtaggacgt	11	11	13	6	3	1	3	0	2	1	1	2	4	1	4	0	2	2	4	0	2	5	3			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:138714555T>A	ENST00000520602.1	-	5	575	c.290A>T	c.(289-291)cAa>cTa	p.Q97L	MCF2_ENST00000370576.4_Missense_Mutation_p.Q37L|MCF2_ENST00000536274.1_Missense_Mutation_p.Q37L|MCF2_ENST00000370578.4_Missense_Mutation_p.Q182L|MCF2_ENST00000519895.1_Missense_Mutation_p.Q97L|MCF2_ENST00000338585.6_Missense_Mutation_p.Q37L|MCF2_ENST00000414978.1_Missense_Mutation_p.Q97L|MCF2_ENST00000370573.4_Missense_Mutation_p.Q37L			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	37					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GAACGTTCGTTGAAGAAAGCT	0.348													12	8					0	0	0	0	A	138714555	T	A	138714555	3	1	112	1	0	0	0	0	1	0	0	0	9447	1812	63	5	2843	5	MCF2	23	138714555	Missense_Mutation	SNP	T	TCGA-CN-A497-01A-11D-A24D-08	6363396	138714555	16556005	388	21586											
GPR50	9248	broad.mit.edu	37	chrX	150348724	150348724	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcggcccgtgaccctgcaggGcagaatcctgacaaccaact	10	5	11	15	2	0	3	0	2	0	1	1	3	1	3	4	2	3	2	4	2	3	0			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:150348724G>T	ENST00000218316.3	+	2	738	c.669G>T	c.(667-669)ggG>ggT	p.G223G		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	223					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTGCAGGGCAGAATCCTG	0.532													33	22					4.74835e-14	7.20597e-14	1	0	T	150348724	G	T	150348724	2	4	112	1	0	0	0	0	0	0	0	1	6746	1190	42	4		4	GPR50	23	150348724	Silent	SNP	G	TCGA-CN-A497-01A-11D-A24D-08	11634169	150348724	4921836	389	21587											
PRDM2	7799	broad.mit.edu	37	chr1	14107666	14107666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgaacaggatgttgttGttcaggaaacattcaacaaa	14	11	9	7	0	2	1	2	1	0	0	2	3	2	3	0	2	4	4	0	2	4	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:14107666G>T	ENST00000235372.7	+	8	4232	c.3376G>T	c.(3376-3378)Gtt>Ttt	p.V1126F	PRDM2_ENST00000343137.4_Missense_Mutation_p.V925F|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.V1126F|PRDM2_ENST00000413440.1_Missense_Mutation_p.V925F|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1126						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GGATGTTGTTGTTCAGGAAAC	0.403													24	82					1.22574e-08	1.2926e-08	1	0	T	14107666	G	T	14107666	3	4	113	1	0	0	0	0	1	0	0	0	12538	1377	48	4	3402	4	PRDM2	1	14107666	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08		14107666	235142955	1	21588											
NRD1	4898	broad.mit.edu	37	chr1	52281983	52281983	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttattaattgaatacttgCtttttcctaaggaaagaaag	15	15	6	5	0	0	2	0	1	0	1	1	3	1	3	1	1	2	1	1	1	7	8			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:52281983C>T	ENST00000354831.7	-	13	1833		c.e13+1		NRD1_ENST00000352171.7_Splice_Site|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000544028.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TGAATACTTGCTTTTTCCTAA	0.323													14	55					0	0	0	0	T	52281983	C	T	52281983	5	4	113	1	0	0	0	0	0	0	1	0	10716	811	28	4	2099	4	NRD1	1	52281983	Splice_Site	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	38174317	52281983	196968638	2	21589											
USP24	23358	broad.mit.edu	37	chr1	55534753	55534753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaaggtcacttctcaactCaccaatcatcatgggagatt	13	11	6	11	0	6	1	6	0	1	1	7	2	6	1	1	2	1	0	1	2	3	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:55534753C>T	ENST00000294383.6	-	68	7827	c.7828G>A	c.(7828-7830)Gag>Aag	p.E2610K	USP24_ENST00000407756.1_Missense_Mutation_p.E2450K	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2610					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTTCTCAACTCACCAATCATC	0.438													22	42					0	0	0	0	T	55534753	C	T	55534753	3	4	113	1	0	0	0	0	1	0	0	0	17151	835	29	2	38	2	USP24	1	55534753	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	3252770	55534753	193715868	3	21590											
RAVER2	55225	broad.mit.edu	37	chr1	65270776	65270776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttgggacatcatcatggaGaagcacataaaagtaaatga	18	8	10	5	0	2	2	2	1	0	1	2	4	2	3	0	2	1	3	0	2	5	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:65270776G>C	ENST00000294428.3	+	8	1477	c.1399G>C	c.(1399-1401)Gaa>Caa	p.E467Q	RAVER2_ENST00000430964.2_Intron|RAVER2_ENST00000371072.4_Missense_Mutation_p.E454Q			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	467						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TCATCATGGAGAAGCACATAA	0.403													8	33					0	0	0	0	C	65270776	G	C	65270776	3	2	113	1	0	0	0	0	1	0	0	0	13177	943	33	2	1390	2	RAVER2	1	65270776	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	9736023	65270776	183979845	4	21591											
LEPR	3953	broad.mit.edu	37	chr1	66102125	66102125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtactgaggtaacctatgaGgacgaaagccagagacaacc	15	5	12	9	1	0	3	0	2	0	1	0	6	0	4	3	3	4	2	3	3	5	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:66102125G>T	ENST00000349533.6	+	20	3110	c.2925G>T	c.(2923-2925)gaG>gaT	p.E975D	LEPR_ENST00000406510.3_Missense_Mutation_p.E42D	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	975					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TAACCTATGAGGACGAAAGCC	0.418													8	66					5.18039e-06	5.39753e-06	1	0	T	66102125	G	T	66102125	3	4	113	1	0	0	0	0	1	0	0	0	8781	991	35	4	3225	4	LEPR	1	66102125	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	831349	66102125	183148496	5	21592											
AMY2A	279	broad.mit.edu	37	chr1	104160597	104160597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctccaccaaatgaaaatGttgcaatttacaaccctttc	13	13	3	12	0	1	1	0	1	1	0	4	1	2	1	3	0	3	2	3	0	6	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:104160597G>A	ENST00000414303.2	+	2	254	c.190G>A	c.(190-192)Gtt>Att	p.V64I		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	64					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	AAATGAAAATGTTGCAATTTA	0.333													37	110					0	0	0	0	A	104160597	G	A	104160597	3	1	113	1	0	0	0	0	1	0	0	0	594	1377	48	4	196	4	AMY2A	1	104160597	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	38058472	104160597	145090024	6	21593											
NOTCH2	4853	broad.mit.edu	37	chr1	120468088	120468088	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagagaacagtcacccccatCccactggcaggcatggctgt	10	6	11	14	0	1	1	1	0	0	1	2	3	2	1	3	3	1	3	3	3	1	0			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:120468088C>G	ENST00000256646.2	-	25	4570	c.4351G>C	c.(4351-4353)Gat>Cat	p.D1451H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1451	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		TCACCCCCATCCCACTGGCAG	0.592			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				20	76					0	0	0	0	G	120468088	C	G	120468088	3	3	113	1	0	0	0	0	1	0	0	0	10618	855	30	2	3104	2	NOTCH2	1	120468088	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	16307491	120468088	128782533	7	21594											
ASH1L	55870	broad.mit.edu	37	chr1	155408358	155408358	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcctggaatgcttgcattGatacgacagcctgaagggga	11	8	13	9	1	0	2	0	2	0	0	0	5	0	4	2	3	5	2	2	3	3	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:155408358G>C	ENST00000368346.3	-	5	6227	c.5588C>G	c.(5587-5589)tCa>tGa	p.S1863*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.S1863*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1863					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGCTTGCATTGATACGACAGC	0.488													26	130					0	0	0	0	C	155408358	G	C	155408358	4	2	113	1	0	0	0	0	0	1	0	0	1045	1294	45	2	3402	2	ASH1L	1	155408358	Nonsense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	34940270	155408358	93842263	8	21595											
CFHR4	10877	broad.mit.edu	37	chr1	196879474	196879474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atattatgagaatacgcgtaGaccatactttccagtagcta	14	12	7	8	2	0	2	0	1	0	2	1	3	1	2	2	0	3	3	2	0	8	8			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:196879474G>A	ENST00000367416.2	+	6	997	c.860G>A	c.(859-861)aGa>aAa	p.R287K	CFHR4_ENST00000367418.1_Missense_Mutation_p.R41K|CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						AATACGCGTAGACCATACTTT	0.343													10	57					0	0	0	0	A	196879474	G	A	196879474	3	1	113	1	0	0	0	0	1	0	0	0	3316	957	33	2		2	CFHR4	1	196879474	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	41471116	196879474	52371147	9	21596											
LHX9	56956	broad.mit.edu	37	chr1	197898183	197898183	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaggaaccttttgcggcagGagaatgggggtgttgataaa	12	9	16	4	1	0	2	0	1	0	1	0	5	0	3	1	5	2	2	1	5	5	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:197898183G>T	ENST00000367390.3	+	6	988	c.961G>T	c.(961-963)Gag>Tag	p.E321*	LHX9_ENST00000561173.1_Intron|LHX9_ENST00000337020.2_Intron|LHX9_ENST00000367391.1_Intron|LHX9_ENST00000367387.4_Nonsense_Mutation_p.E330*	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	330					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTTGCGGCAGGAGAATGGGGG	0.512													14	58					1.05317e-09	1.13821e-09	1	0	T	197898183	G	T	197898183	4	4	113	1	0	0	0	0	0	1	0	0	8831	1175	41	2	1038	2	LHX9	1	197898183	Nonsense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	1018709	197898183	51352438	10	21597											
PTPRC	5788	broad.mit.edu	37	chr1	198719713	198719713	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgatcttccaaagaaaagtCaaagttattgttatgctgac	15	13	7	6	0	2	3	1	2	1	1	3	3	3	3	1	0	1	3	1	0	6	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:198719713C>G	ENST00000367376.2	+	29	3330	c.3159C>G	c.(3157-3159)gtC>gtG	p.V1053V	PTPRC_ENST00000442510.2_Silent_p.V1055V|PTPRC_ENST00000348564.6_Silent_p.V894V|PTPRC_ENST00000352140.3_Silent_p.V1005V|PTPRC_ENST00000594404.1_Silent_p.V892V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1053	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAAGAAAAGTCAAAGTTATTG	0.398													22	114					0	0	0	0	G	198719713	C	G	198719713	2	3	113	1	0	0	0	0	0	0	0	1	12879	813	29	2		2	PTPRC	1	198719713	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	821530	198719713	50530908	11	21598											
ATP2B4	493	broad.mit.edu	37	chr1	203652501	203652501	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgtacagaatctctgcagTagactgaaaacctcccctgt	11	10	9	11	0	1	3	0	1	1	2	3	3	2	3	3	1	3	3	3	1	5	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:203652501T>A	ENST00000357681.5	+	2	1291	c.168T>A	c.(166-168)agT>agA	p.S56R	ATP2B4_ENST00000367218.3_Missense_Mutation_p.S56R|ATP2B4_ENST00000391954.2_Missense_Mutation_p.S56R|ATP2B4_ENST00000367219.3_Missense_Mutation_p.S56R|ATP2B4_ENST00000341360.2_Missense_Mutation_p.S56R	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	56					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATCTCTGCAGTAGACTGAAAA	0.488													26	86					0	0	0	0	A	203652501	T	A	203652501	3	1	113	1	0	0	0	0	1	0	0	0	1146	1635	57	5	170	5	ATP2B4	1	203652501	Missense_Mutation	SNP	T	TCGA-CN-A498-01A-11D-A24D-08	4932788	203652501	45598120	12	21599											
TGFB2	7042	broad.mit.edu	37	chr1	218520231	218520231	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcctgagcccgaggaagTccccccggaggtgatttcca	8	8	11	14	2	0	2	0	2	0	0	3	5	3	4	6	3	1	0	6	3	2	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:218520231T>G	ENST00000366929.4	+	1	655	c.188T>G	c.(187-189)gTc>gGc	p.V63G	TGFB2_ENST00000366930.4_Missense_Mutation_p.V63G	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	63					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CCCGAGGAAGTCCCCCCGGAG	0.632													24	51					0	0	0	0	G	218520231	T	G	218520231	3	3	113	1	0	0	0	0	1	0	0	0	15912	1667	58	5	190	5	TGFB2	1	218520231	Missense_Mutation	SNP	T	TCGA-CN-A498-01A-11D-A24D-08	14867730	218520231	30730390	13	21600											
ADSS	159	broad.mit.edu	37	chr1	244614999	244614999	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccttccctttgccttCgtcgccccactgcgcaccga	5	9	6	21	4	0	0	0	0	0	0	3	1	1	0	7	0	2	1	7	0	0	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:244614999C>A	ENST00000366535.3	-	1	437	c.121G>T	c.(121-123)Gaa>Taa	p.E41*		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	41	IMP binding (By similarity).				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	p.E41K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	CCTTTGCCTTCGTCGCCCCAC	0.736													7	13					0.0293803	0.0295502	1	0	A	244614999	C	A	244614999	4	1	113	1	0	0	0	0	0	1	0	0	347	893	31	3	1301	3	ADSS	1	244614999	Nonsense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	26094768	244614999	4635622	14	21601											
ZNF695	57116	broad.mit.edu	37	chr1	247151417	247151417	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgccttctgccctttccActcacccacaatttcccagt	7	13	3	18	0	2	0	1	0	1	0	4	0	4	0	5	0	2	0	5	0	1	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:247151417A>T	ENST00000339986.7	-	4	547	c.400T>A	c.(400-402)Tgg>Agg	p.W134R	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	134					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCCCTTTCCACTCACCCACA	0.388													63	243					0	0	0	0	T	247151417	A	T	247151417	3	4	113	1	0	0	0	0	1	0	0	0	18193	159	6	5	1151	5	ZNF695	1	247151417	Missense_Mutation	SNP	A	TCGA-CN-A498-01A-11D-A24D-08	2536418	247151417	2099204	15	21602											
USP34	9736	broad.mit.edu	37	chr2	61597522	61597522	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttctgctgccaaaaaattCaaaatcacttggcactgttt	12	13	5	11	0	3	0	2	0	1	0	3	0	3	0	2	1	2	3	2	1	5	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr2:61597522C>T	ENST00000398571.2	-	10	1261	c.1185G>A	c.(1183-1185)ttG>ttA	p.L395L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	395					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCAAAAAATTCAAAATCACTT	0.328													25	91					0	0	0	0	T	61597522	C	T	61597522	2	4	113	1	0	0	0	0	0	0	0	1	17161	825	29	2		2	USP34	2	61597522	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08		61597522	181601851	16	21603											
CLASP1	23332	broad.mit.edu	37	chr2	122145474	122145474	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagagagattagcacaatCtgtgctgcctagaaaaagga	17	7	10	7	0	1	3	0	0	1	3	1	5	1	4	1	1	4	2	1	1	6	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr2:122145474C>A	ENST00000263710.4	-	31	3521	c.3132G>T	c.(3130-3132)caG>caT	p.Q1044H	CLASP1_ENST00000545861.1_Missense_Mutation_p.Q790H|CLASP1_ENST00000541377.1_Missense_Mutation_p.Q1022H|CLASP1_ENST00000541859.1_Missense_Mutation_p.Q800H|CLASP1_ENST00000455322.2_Missense_Mutation_p.Q1039H|CLASP1_ENST00000397587.3_Missense_Mutation_p.Q1023H|CLASP1_ENST00000409078.3_Missense_Mutation_p.Q1016H	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1044					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TTAGCACAATCTGTGCTGCCT	0.333													5	26					0.000602214	0.000616384	1	0	A	122145474	C	A	122145474	3	1	113	1	0	0	0	0	1	0	0	0	3484	912	32	2	1524	2	CLASP1	2	122145474	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	60547952	122145474	121053899	17	21604											
SCN3A	6328	broad.mit.edu	37	chr2	166003509	166003509	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccacctattccactgaaatCtcttgaagcagctgatgctg	10	11	7	13	0	1	3	0	3	1	0	3	3	2	3	3	0	3	3	3	0	3	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr2:166003509C>G	ENST00000360093.3	-	12	1902	c.1411G>C	c.(1411-1413)Gat>Cat	p.D471H	SCN3A_ENST00000283254.7_Missense_Mutation_p.D471H|SCN3A_ENST00000409101.3_Missense_Mutation_p.D471H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	471						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCACTGAAATCTCTTGAAGCA	0.418													16	51					0	0	0	0	G	166003509	C	G	166003509	3	3	113	1	0	0	0	0	1	0	0	0	14005	913	32	2	4659	2	SCN3A	2	166003509	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	43858035	166003509	77195864	18	21605											
GULP1	51454	broad.mit.edu	37	chr2	189387546	189387546	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgagagatgctgtaaggAaactaaaggtagggaaaggc	15	8	15	3	0	0	2	0	1	0	1	0	5	0	4	0	4	2	3	0	4	6	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr2:189387546A>T	ENST00000409580.1	+	6	868	c.154A>T	c.(154-156)Aaa>Taa	p.K52*	GULP1_ENST00000409830.1_Nonsense_Mutation_p.K52*|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000409637.3_Nonsense_Mutation_p.K52*|GULP1_ENST00000410051.1_Nonsense_Mutation_p.K52*|GULP1_ENST00000409609.1_Nonsense_Mutation_p.K52*|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409843.1_Nonsense_Mutation_p.K52*|GULP1_ENST00000359135.3_Nonsense_Mutation_p.K52*			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	52	PID.				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TGCTGTAAGGAAACTAAAGGT	0.403													20	57					0	0	0	0	T	189387546	A	T	189387546	4	4	113	1	0	0	0	0	0	1	0	0	6951	247	9	5	164	5	GULP1	2	189387546	Nonsense_Mutation	SNP	A	TCGA-CN-A498-01A-11D-A24D-08	23384037	189387546	53811827	19	21606											
GPR35	2859	broad.mit.edu	37	chr2	241570030	241570030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggctgcccgcatggtctggGccaacctcctggtgttcgtg	4	10	14	13	2	1	0	0	0	1	0	3	0	2	0	4	4	2	3	4	4	1	1			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr2:241570030G>T	ENST00000319838.5	+	6	1603	c.661G>T	c.(661-663)Gcc>Tcc	p.A221S	GPR35_ENST00000438013.2_Missense_Mutation_p.A252S|GPR35_ENST00000430267.1_Missense_Mutation_p.A221S|GPR35_ENST00000407714.1_Missense_Mutation_p.A221S|GPR35_ENST00000403859.1_Missense_Mutation_p.A221S	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	221						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CATGGTCTGGGCCAACCTCCT	0.682													5	61					0.014758	0.0149296	1	0	T	241570030	G	T	241570030	3	4	113	1	0	0	0	0	1	0	0	0	6739	1203	42	4	663	4	GPR35	2	241570030	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	52182484	241570030	1629343	20	21607											
GRM7	2917	broad.mit.edu	37	chr3	7348270	7348270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggggatccaaaataaacCcactgcaccagcatgaagat	15	6	9	11	0	0	2	0	1	0	1	1	3	1	3	3	2	3	3	3	2	5	1			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:7348270C>G	ENST00000486284.1	+	4	1238	c.964C>G	c.(964-966)Cca>Gca	p.P322A	GRM7_ENST00000402647.2_Missense_Mutation_p.P322A|GRM7_ENST00000403881.1_Missense_Mutation_p.P322A|GRM7_ENST00000389336.4_Missense_Mutation_p.P322A|GRM7_ENST00000357716.4_Missense_Mutation_p.P322A	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	322					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			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)	CAAAATAAACCCACTGCACCA	0.507													19	51					0	0	0	0	G	7348270	C	G	7348270	3	3	113	1	0	0	0	0	1	0	0	0	6852	623	22	4	978	4	GRM7	3	7348270	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08		7348270	190674160	21	21608											
HACL1	26061	broad.mit.edu	37	chr3	15637898	15637898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttagtttacctgcttgTcagatatccaatcgcggagg	10	14	9	8	2	1	1	1	0	0	1	3	2	2	2	2	2	2	2	2	2	5	6			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:15637898T>C	ENST00000321169.5	-	3	587	c.220A>G	c.(220-222)Aca>Gca	p.T74A	HACL1_ENST00000456194.2_Missense_Mutation_p.T74A|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.T74A|HACL1_ENST00000451445.2_Missense_Mutation_p.T74A	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	74					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TACCTGCTTGTCAGATATCCA	0.373													12	17					0	0	0	0	C	15637898	T	C	15637898	3	2	113	1	0	0	0	0	1	0	0	0	6991	1667	58	5	1576	5	HACL1	3	15637898	Missense_Mutation	SNP	T	TCGA-CN-A498-01A-11D-A24D-08	8289628	15637898	182384532	22	21609											
MYRIP	25924	broad.mit.edu	37	chr3	40231499	40231500	+	Frame_Shift_Ins	INS	-	-	G																															cgaggaagactttgactggaINSgtgaggccttgagcaagctg																										TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:40231499_40231500insG	ENST00000302541.6	+	10	1552_1553	c.1210_1211insG	c.(1210-1212)tgafs	p.*404fs	MYRIP_ENST00000396217.3_Frame_Shift_Ins_p.*315fs|MYRIP_ENST00000425621.1_Frame_Shift_Ins_p.*404fs|MYRIP_ENST00000444716.1_Frame_Shift_Ins_p.*404fs|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Frame_Shift_Ins_p.*217fs	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	404	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CTTTGACTGGAGTGAGGCCTTG	0.624													27	41	---	---	---	---					G	40231500	-	G	40231499	7	5	113	1	0	1	1	0	0	0	0	0	10170	304	11	0	1244	0	MYRIP	3	40231499	Frame_Shift_Ins	INS	-	TCGA-CN-A498-01A-11D-A24D-08	24593601	40231499	157790931	23	21610											
SPCS1	28972	broad.mit.edu	37	chr3	52740832	52740832	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttggatttatctacgggtaCgtggctgaacagttcgggtg	7	13	15	6	3	1	1	0	1	1	0	2	2	1	2	0	4	3	4	0	4	4	6			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:52740832C>A	ENST00000233025.7	+	3	731	c.321C>A	c.(319-321)taC>taA	p.Y107*	SPCS1_ENST00000602728.1_Nonsense_Mutation_p.Y40*|SPCS1_ENST00000423431.1_Nonsense_Mutation_p.Y18*	NM_014041.3	NP_054760.3	Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	107					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		TCTACGGGTACGTGGCTGAAC	0.428													47	92					6.31075e-24	7.17693e-24	1	0	A	52740832	C	A	52740832	4	1	113	1	0	0	0	0	0	1	0	0	15113	547	19	3	331	3	SPCS1	3	52740832	Nonsense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	12509333	52740832	145281598	24	21611											
XRN1	54464	broad.mit.edu	37	chr3	142133018	142133018	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttttgctggctgctggaaGtacagcaagaagctgttcaa	11	12	11	7	0	1	1	1	0	0	1	1	2	1	2	0	2	5	7	0	2	5	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:142133018G>C	ENST00000264951.4	-	14	1669	c.1552C>G	c.(1552-1554)Ctt>Gtt	p.L518V	XRN1_ENST00000392981.2_Missense_Mutation_p.L518V	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	518					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GCTGCTGGAAGTACAGCAAGA	0.378													21	110					0	0	0	0	C	142133018	G	C	142133018	3	2	113	1	0	0	0	0	1	0	0	0	17555	1029	36	4	3684	4	XRN1	3	142133018	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	89392186	142133018	55889412	25	21612											
TRPC1	7220	broad.mit.edu	37	chr3	142521123	142521123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatgataaaggatatacttCaaaggagcagaaggactgtg	16	9	12	4	0	1	2	1	1	0	1	1	5	1	5	0	3	2	2	0	3	7	5			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:142521123C>T	ENST00000273482.6	+	9	1983	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	TRPC1_ENST00000476941.1_Missense_Mutation_p.S565L	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	565					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GGATATACTTCAAAGGAGCAG	0.333													14	66					0	0	0	0	T	142521123	C	T	142521123	3	4	113	1	0	0	0	0	1	0	0	0	16673	838	29	2	1626	2	TRPC1	3	142521123	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	388105	142521123	55501307	26	21613											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			22	116					0	0	0	0	G	178952085	A	G	178952085	3	3	113	1	0	0	0	0	1	0	0	0	11985	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-CN-A498-01A-11D-A24D-08	36430962	178952085	19070345	27	21614											
FAM131A	131408	broad.mit.edu	37	chr3	184060002	184060002	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcctcctattcagacctCagcgagggcgaacaagaggc	10	9	10	12	2	2	2	2	0	0	2	4	4	4	2	3	2	2	0	3	2	3	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:184060002C>G	ENST00000310585.4	+	1	1745	c.381C>G	c.(379-381)ctC>ctG	p.L127L	FAM131A_ENST00000383847.2_Silent_p.L158L|FAM131A_ENST00000453072.1_Silent_p.L73L|FAM131A_ENST00000418281.1_Silent_p.L35L|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Silent_p.L73L|FAM131A_ENST00000450976.1_Silent_p.L73L			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	127						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATTCAGACCTCAGCGAGGGCG	0.542													20	97					0	0	0	0	G	184060002	C	G	184060002	2	3	113	1	0	0	0	0	0	0	0	1	5480	813	29	2		2	FAM131A	3	184060002	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	5107917	184060002	13962428	28	21615											
ANKRD17	26057	broad.mit.edu	37	chr4	74010532	74010532	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattaaaggagttcttccAccttcagattcatgttcctg	9	16	6	10	0	4	1	3	0	1	1	6	2	6	2	3	1	0	2	3	1	2	7			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr4:74010532A>C	ENST00000358602.4	-	11	2003	c.1887T>G	c.(1885-1887)ggT>ggG	p.G629G	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.G516G|ANKRD17_ENST00000330838.6_Silent_p.G629G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	629					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGTTCTTCCACCTTCAGATT	0.303													6	16					0	0	0	0	C	74010532	A	C	74010532	2	2	113	1	0	0	0	0	0	0	0	1	646	146	6	5		5	ANKRD17	4	74010532	Silent	SNP	A	TCGA-CN-A498-01A-11D-A24D-08		74010532	117143744	29	21616											
FBXW7	55294	broad.mit.edu	37	chr4	153332882	153332882	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcttcatctacctggcttGaggaagggttacctctcaga	8	13	10	10	0	4	2	2	1	3	1	5	3	4	3	2	3	2	3	2	3	3	5			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr4:153332882G>C	ENST00000281708.4	-	2	1303	c.74C>G	c.(73-75)tCa>tGa	p.S25*	FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S25*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S25*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.S25*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	25					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TACCTGGCTTGAGGAAGGGTT	0.493			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								22	30					0	0	0	0	C	153332882	G	C	153332882	4	2	113	1	0	0	0	0	0	1	0	0	5814	1294	45	2	2509	2	FBXW7	4	153332882	Nonsense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	79322350	153332882	37821394	30	21617											
SLC9A3	6550	broad.mit.edu	37	chr5	482229	482229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttcccggtgctcgctcCtcttcaccttcagccactgc	4	11	9	17	2	3	0	2	0	1	0	6	1	5	0	4	2	3	3	4	2	0	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:482229C>T	ENST00000264938.3	-	8	1409	c.1400G>A	c.(1399-1401)aGg>aAg	p.R467K	SLC9A3_ENST00000514375.1_Missense_Mutation_p.R458K	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	467						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGCTCGCTCCTCTTCACCTT	0.701													3	18					0	0	0	0	T	482229	C	T	482229	3	4	113	1	0	0	0	0	1	0	0	0	14801	681	24	4	1144	4	SLC9A3	5	482229	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08		482229	180433031	31	21618											
DNAH5	1767	broad.mit.edu	37	chr5	13708257	13708257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaccaagcagggattctaGcatcaaacatgcaatccaat	15	8	6	12	0	2	0	1	0	1	0	4	1	4	1	3	1	4	3	3	1	5	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:13708257G>T	ENST00000265104.4	-	76	13417	c.13313C>A	c.(13312-13314)gCt>gAt	p.A4438D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4438					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGGATTCTAGCATCAAACAT	0.443									Kartagener syndrome				60	148					8.72158e-25	9.98392e-25	1	0	T	13708257	G	T	13708257	3	4	113	1	0	0	0	0	1	0	0	0	4641	971	34	4	577	4	DNAH5	5	13708257	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	13226028	13708257	167207003	32	21619											
AMACR	23600	broad.mit.edu	37	chr5	34007993	34007993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcttgccccggcccaagcgGctcacgtcgtagcgggagcc	5	5	14	17	6	1	0	1	0	0	0	2	1	1	1	4	3	4	3	4	3	2	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:34007993G>C	ENST00000335606.6	-	1	220	c.132C>G	c.(130-132)agC>agG	p.S44R	AMACR_ENST00000441713.2_Missense_Mutation_p.S44R|AMACR_ENST00000502637.1_Missense_Mutation_p.S44R|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382072.2_Missense_Mutation_p.S44R|AMACR_ENST00000382085.3_Missense_Mutation_p.S44R	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	44					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GGCCCAAGCGGCTCACGTCGT	0.721													4	12					0	0	0	0	C	34007993	G	C	34007993	3	2	113	1	0	0	0	0	1	0	0	0	562	1194	42	4	1366	4	AMACR	5	34007993	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	20299736	34007993	146907267	33	21620											
ERAP2	64167	broad.mit.edu	37	chr5	96245440	96245440	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgctgaactcttctccCagtggatggaatccagtgga	10	10	11	10	0	2	1	0	1	2	0	4	4	3	4	2	3	3	2	2	3	3	1			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:96245440C>T	ENST00000437043.3	+	15	3037	c.2326C>T	c.(2326-2328)Cag>Tag	p.Q776*	ERAP2_ENST00000379904.4_Nonsense_Mutation_p.Q731*|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	776					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ACTCTTCTCCCAGTGGATGGA	0.473													10	37					0	0	0	0	T	96245440	C	T	96245440	4	4	113	1	0	0	0	0	0	1	0	0	5242	595	21	4	2380	4	ERAP2	5	96245440	Nonsense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	62237447	96245440	84669820	34	21621											
CHD1	1105	broad.mit.edu	37	chr5	98209410	98209410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcaactaactcagcatctCgagcaattgcatctaatctg	13	12	5	11	1	5	0	2	0	3	0	6	1	5	0	0	0	5	3	0	0	5	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:98209410C>T	ENST00000284049.3	-	25	3607	c.3458G>A	c.(3457-3459)cGa>cAa	p.R1153Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1153					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTCAGCATCTCGAGCAATTGC	0.338													13	38					0	0	0	0	T	98209410	C	T	98209410	3	4	113	1	0	0	0	0	1	0	0	0	3352	884	31	1	1718	1	CHD1	5	98209410	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	1963970	98209410	82705850	35	21622											
SLCO4C1	353189	broad.mit.edu	37	chr5	101627081	101627081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaatttatattctccactGaaaaattgtggcaatgagaa	15	12	6	8	0	1	2	0	2	1	1	2	3	1	2	2	1	0	1	2	1	7	5			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:101627081G>A	ENST00000310954.6	-	2	871	c.585C>T	c.(583-585)ttC>ttT	p.F195F		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	195					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATTCTCCACTGAAAAATTGTG	0.358													9	54					0	0	0	0	A	101627081	G	A	101627081	2	1	113	1	0	0	0	0	0	0	0	1	14818	1281	45	2		2	SLCO4C1	5	101627081	Silent	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	3417671	101627081	79288179	36	21623											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794641	140794641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggcgaggtgcgcacggcGcgagccctgctggacagaga	8	3	18	12	6	0	1	0	0	0	1	0	5	0	2	1	4	3	2	1	4	0	0			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:140794641G>A	ENST00000398610.2	+	1	1899	c.1899G>A	c.(1897-1899)gcG>gcA	p.A633A	PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCACGGCGCGAGCCCTGC	0.697													8	81					0	0	0	0	A	140794641	G	A	140794641	2	1	113	1	0	0	0	0	0	0	0	1	11622	1074	38	1		1	PCDHGA10	5	140794641	Silent	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	39167560	140794641	40120619	37	21624											
FLT4	2324	broad.mit.edu	37	chr5	180057035	180057035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcgtgcagcagtggcGtggacacgagcatgccccgc	7	5	16	13	4	0	0	0	0	0	0	1	2	0	1	2	3	4	4	2	3	0	0			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:180057035G>A	ENST00000261937.6	-	5	662	c.584C>T	c.(583-585)aCg>aTg	p.T195M	FLT4_ENST00000502649.1_Missense_Mutation_p.T195M|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.T195M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	195	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CAGCAGTGGCGTGGACACGAG	0.627													31	31					0	0	0	0	A	180057035	G	A	180057035	3	1	113	1	0	0	0	0	1	0	0	0	5989	1145	40	1	3619	1	FLT4	5	180057035	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	39262394	180057035	858225	38	21625											
KDM1B	221656	broad.mit.edu	37	chr6	18160204	18160204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttcctttgaggagctcCggtaggcaggtagtgttcat	7	12	13	9	1	1	1	1	1	0	0	3	2	3	2	3	4	2	5	3	4	2	5			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr6:18160204C>T	ENST00000388870.2	+	3	319	c.78C>T	c.(76-78)tcC>tcT	p.S26S	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Silent_p.S26S|KDM1B_ENST00000297792.5_Silent_p.S26S			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	26					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TGAGGAGCTCCGGTAGGCAGG	0.403													7	19					0	0	0	0	T	18160204	C	T	18160204	2	4	113	1	0	0	0	0	0	0	0	1	8176	639	23	1		1	KDM1B	6	18160204	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08		18160204	152954863	39	21626											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114533	27114533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccttagtcacggctttcttCgagcccttcttgggcgcggg	3	12	13	13	4	3	0	1	0	2	0	4	1	3	0	2	3	1	1	2	3	1	5			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr6:27114533C>T	ENST00000396891.4	-	1	86	c.45G>A	c.(43-45)tcG>tcA	p.S15S	HIST1H2BK_ENST00000356950.1_Silent_p.S15S	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	15					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGGCTTTCTTCGAGCCCTTCT	0.577													33	160					0	0	0	0	T	27114533	C	T	27114533	2	4	113	1	0	0	0	0	0	0	0	1	7200	871	31	1		1	HIST1H2BK	6	27114533	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	8954329	27114533	144000534	40	21627											
CYP39A1	51302	broad.mit.edu	37	chr6	46518114	46518114	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagatgtcatattctttGtttatattcaattcggcatt	11	18	5	7	1	3	1	2	0	1	1	4	1	3	1	0	1	1	2	0	1	5	9			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr6:46518114G>A	ENST00000275016.2	-	12	1602	c.1399C>T	c.(1399-1401)Caa>Taa	p.Q467*		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	467					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CATATTCTTTGTTTATATTCA	0.468													10	28					0	0	0	0	A	46518114	G	A	46518114	4	1	113	1	0	0	0	0	0	1	0	0	4209	1386	48	4	14	4	CYP39A1	6	46518114	Nonsense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	19403581	46518114	124596953	41	21628											
CRISP1	167	broad.mit.edu	37	chr6	49803038	49803038	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataacaaagacctattttatCtcagtgtcacacagacaagt	16	11	5	9	0	2	2	2	0	1	2	3	2	2	2	1	0	1	0	1	0	5	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr6:49803038C>T	ENST00000335847.4	-	8	842	c.741G>A	c.(739-741)gaG>gaA	p.E247E	CRISP1_ENST00000507853.1_3'UTR|CRISP1_ENST00000505118.1_Silent_p.E247E|CRISP1_ENST00000355791.2_Silent_p.E247E|CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000536021.1_3'UTR	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	247					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CCTATTTTATCTCAGTGTCAC	0.393													32	127					0	0	0	0	T	49803038	C	T	49803038	2	4	113	1	0	0	0	0	0	0	0	1	3909	912	32	2		2	CRISP1	6	49803038	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	3284924	49803038	121312029	42	21629											
SLC35D3	340146	broad.mit.edu	37	chr6	137243653	137243653	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctccctcaacatcttgctCaagttcctcatcagccgcta	8	11	6	16	1	5	0	4	0	1	0	7	0	7	0	3	1	3	4	3	1	3	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr6:137243653C>G	ENST00000331858.4	+	1	252	c.87C>G	c.(85-87)ctC>ctG	p.L29L		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	29					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		ACATCTTGCTCAAGTTCCTCA	0.692													4	22					0	0	0	0	G	137243653	C	G	137243653	2	3	113	1	0	0	0	0	0	0	0	1	14671	813	29	2		2	SLC35D3	6	137243653	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	87440615	137243653	33871414	43	21630											
SYNE1	23345	broad.mit.edu	37	chr6	152651578	152651578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagcatcttgtctggctGccaaggctgacctgtgctgc	5	11	13	12	0	2	1	0	1	2	0	2	1	2	1	2	2	5	5	2	2	1	1			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr6:152651578G>T	ENST00000367255.5	-	78	14843	c.14242C>A	c.(14242-14244)Cag>Aag	p.Q4748K	SYNE1_ENST00000265368.4_Missense_Mutation_p.Q4748K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q4677K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q4677K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q4495K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4748					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGTCTGGCTGCCAAGGCTGA	0.522										HNSCC(10;0.0054)			14	62					2.32078e-09	2.4774e-09	1	0	T	152651578	G	T	152651578	3	4	113	1	0	0	0	0	1	0	0	0	15536	1328	46	4	12500	4	SYNE1	6	152651578	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	15407925	152651578	18463489	44	21631											
SYNE1	23345	broad.mit.edu	37	chr6	152737534	152737534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatttacctctgctgaagaGcttggcgggtaggttctttc	6	15	11	9	1	2	2	0	1	2	1	3	2	2	2	1	3	3	4	1	3	4	7			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr6:152737534G>A	ENST00000367255.5	-	41	6639	c.6038C>T	c.(6037-6039)gCt>gTt	p.A2013V	SYNE1_ENST00000265368.4_Missense_Mutation_p.A2013V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A2020V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A2020V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A2050V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2013					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCTGAAGAGCTTGGCGGGT	0.388										HNSCC(10;0.0054)			59	188					0	0	0	0	A	152737534	G	A	152737534	3	1	113	1	0	0	0	0	1	0	0	0	15536	971	34	4	20852	4	SYNE1	6	152737534	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	85956	152737534	18377533	45	21632											
THSD7A	221981	broad.mit.edu	37	chr7	11457183	11457183	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcttctgggtcacagaggTaatcctctacatgttcagaa	10	13	8	10	0	5	2	2	0	3	2	7	2	6	2	1	2	1	2	1	2	3	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:11457183T>C	ENST00000423059.3	-	17	3682	c.3431A>G	c.(3430-3432)tAc>tGc	p.Y1144C	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1144	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTCACAGAGGTAATCCTCTAC	0.428										HNSCC(18;0.044)			9	29					0	0	0	0	C	11457183	T	C	11457183	3	2	113	1	0	0	0	0	1	0	0	0	15973	1638	57	5	1590	5	THSD7A	7	11457183	Missense_Mutation	SNP	T	TCGA-CN-A498-01A-11D-A24D-08		11457183	147681480	46	21633											
EEPD1	80820	broad.mit.edu	37	chr7	36194453	36194453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatgggccctttcgcagcGttgaggacctagtgaggatg	8	9	15	9	2	0	2	0	2	0	0	1	4	0	4	2	3	2	3	2	3	1	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:36194453G>A	ENST00000242108.4	+	2	1238	c.520G>A	c.(520-522)Gtt>Att	p.V174I	EEPD1_ENST00000534978.1_Missense_Mutation_p.V174I	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	174					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CTTTCGCAGCGTTGAGGACCT	0.627													7	44					0	0	0	0	A	36194453	G	A	36194453	3	1	113	1	0	0	0	0	1	0	0	0	4968	1145	40	1	522	1	EEPD1	7	36194453	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	24737270	36194453	122944210	47	21634											
ZNF273	10793	broad.mit.edu	37	chr7	64388278	64388278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaagtccttcataaattctCaaattcaaatatacataaga	19	13	2	7	0	3	1	3	0	1	1	5	1	4	1	1	0	1	0	1	0	9	8			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:64388278C>T	ENST00000476120.1	+	4	643	c.572C>T	c.(571-573)tCa>tTa	p.S191L	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.S126L	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CATAAATTCTCAAATTCAAAT	0.308													15	43					0	0	0	0	T	64388278	C	T	64388278	3	4	113	1	0	0	0	0	1	0	0	0	17903	838	29	2	586	2	ZNF273	7	64388278	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	28193825	64388278	94750385	48	21635											
TYW1B	441250	broad.mit.edu	37	chr7	72081809	72081809	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcttgctgaactttctcTgcagtaggtaacgccctgtg	7	13	10	11	1	1	1	0	1	1	0	2	1	1	1	1	1	5	5	1	1	3	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:72081809T>C	ENST00000438125.1	-	0	1246							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GAACTTTCTCTGCAGTAGGTA	0.498													5	60					0	0	0	0	C	72081809	T	C	72081809	1	2	113	0	1	0	0	0	0	0	0	0	16915	1588	55	5		5	TYW1B	7	72081809	RNA	SNP	T	TCGA-CN-A498-01A-11D-A24D-08	7693531	72081809	87056854	49	21636											
TMEM60	85025	broad.mit.edu	37	chr7	77423609	77423609	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttccaaggtgctttctcatCcagtttcaacaccaacatga	11	12	6	12	0	2	1	2	1	1	0	5	1	4	1	3	1	3	3	3	1	3	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:77423609C>G	ENST00000257663.3	-	2	458	c.82G>C	c.(82-84)Gat>Cat	p.D28H		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	28						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						GCTTTCTCATCCAGTTTCAAC	0.428													15	36					0	0	0	0	G	77423609	C	G	77423609	3	3	113	1	0	0	0	0	1	0	0	0	16281	855	30	2	323	2	TMEM60	7	77423609	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	5341800	77423609	81715054	50	21637											
TMEM60	85025	broad.mit.edu	37	chr7	77423688	77423688	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgagccaaggacattctCatttaaacagtttaaagagg	14	11	8	8	0	2	2	1	1	2	1	3	3	2	3	1	2	2	1	1	2	5	5			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:77423688C>T	ENST00000257663.3	-	2	379	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	1						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						AGGACATTCTCATTTAAACAG	0.388													13	36					0	0	0	0	T	77423688	C	T	77423688	1	4	113	1	0	0	0	0	0	0	0	0	16281	826	29	2		2	TMEM60	7	77423688	Translation_Start_Site	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	79	77423688	81714975	51	21638											
PCLO	27445	broad.mit.edu	37	chr7	82764134	82764134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttgggggcatcagtaataCttcccagattcagactgaaa	13	11	9	8	0	2	3	2	1	0	2	3	3	3	3	1	2	1	2	1	2	3	5			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:82764134C>T	ENST00000423517.2	-	3	3069	c.2732G>A	c.(2731-2733)aGt>aAt	p.S911N	PCLO_ENST00000333891.8_Missense_Mutation_p.S911N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	857	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCAGTAATACTTCCCAGATT	0.537													30	101					0	0	0	0	T	82764134	C	T	82764134	3	4	113	1	0	0	0	0	1	0	0	0	11654	565	20	4	12805	4	PCLO	7	82764134	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	5340446	82764134	76374529	52	21639											
CDHR3	222256	broad.mit.edu	37	chr7	105664841	105664841	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagcccagggtcacctaTcaggtcctgaggaaaaacgt	12	8	10	11	1	3	1	3	1	0	0	4	2	4	2	3	3	2	0	3	3	4	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:105664841T>A	ENST00000542731.1	+	15	2199	c.2091T>A	c.(2089-2091)taT>taA	p.Y697*	CDHR3_ENST00000478080.1_Nonsense_Mutation_p.Y609*|CDHR3_ENST00000317716.9_Nonsense_Mutation_p.Y697*|CDHR3_ENST00000343407.5_Missense_Mutation_p.S200T|CDHR3_ENST00000470188.1_3'UTR			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	697					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GGGTCACCTATCAGGTCCTGA	0.498													4	20					0	0	0	0	A	105664841	T	A	105664841	4	1	113	1	0	0	0	0	0	1	0	0	3149	1442	50	5	2149	5	CDHR3	7	105664841	Nonsense_Mutation	SNP	T	TCGA-CN-A498-01A-11D-A24D-08	22900707	105664841	53473822	53	21640											
PNMA2	10687	broad.mit.edu	37	chr8	26366057	26366057	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggccgagacatcagtaTcttccagaagctctagtaag	13	9	10	9	1	3	2	1	0	2	2	4	4	4	2	2	1	1	3	2	1	5	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr8:26366057T>G	ENST00000522362.2	-	3	1109	c.215A>C	c.(214-216)gAt>gCt	p.D72A		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	72					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gacatcagtatcttccagaag	0.483													24	36					0	0	0	0	G	26366057	T	G	26366057	3	3	113	1	0	0	0	0	1	0	0	0	12226	1435	50	5	883	5	PNMA2	8	26366057	Missense_Mutation	SNP	T	TCGA-CN-A498-01A-11D-A24D-08		26366057	119997965	54	21641											
ZFHX4	79776	broad.mit.edu	37	chr8	77766065	77766065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagaactcactaatgaacGgtacattcgaacaagcaaca	19	6	7	9	2	1	2	1	1	0	1	2	4	1	2	0	1	6	2	0	1	8	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr8:77766065G>A	ENST00000521891.2	+	10	7356	c.6908G>A	c.(6907-6909)cGg>cAg	p.R2303Q	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2258Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2277Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2258Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2258						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTAATGAACGGTACATTCGA	0.383										HNSCC(33;0.089)			17	41					0	0	0	0	A	77766065	G	A	77766065	3	1	113	1	0	0	0	0	1	0	0	0	17730	1116	39	1	6942	1	ZFHX4	8	77766065	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	51400008	77766065	68597957	55	21642											
ZFHX4	79776	broad.mit.edu	37	chr8	77767078	77767078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcttgatcatattgcccgcGaagtcgggctgaaaaaaagg	12	9	12	8	3	1	2	1	2	0	0	2	3	1	2	1	2	2	2	1	2	5	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr8:77767078G>A	ENST00000521891.2	+	10	8369	c.7921G>A	c.(7921-7923)Gaa>Aaa	p.E2641K	ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2596K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2615K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2596K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2596						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TATTGCCCGCGAAGTCGGGCT	0.512										HNSCC(33;0.089)			16	46					0	0	0	0	A	77767078	G	A	77767078	3	1	113	1	0	0	0	0	1	0	0	0	17730	1059	37	1	7955	1	ZFHX4	8	77767078	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	1013	77767078	68596944	56	21643											
RIMS2	9699	broad.mit.edu	37	chr8	105263991	105263991	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttggcccctctgacaagAagagcttcccaatcatctct	10	10	6	15	0	3	3	1	1	2	2	5	3	4	3	4	1	1	1	4	1	3	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr8:105263991A>C	ENST00000507740.1	+	22	3671	c.3435A>C	c.(3433-3435)agA>agC	p.R1145S	RIMS2_ENST00000339750.2_Missense_Mutation_p.R267S|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1331S|RIMS2_ENST00000436393.2_Missense_Mutation_p.R1349S|RIMS2_ENST00000262231.10_Missense_Mutation_p.R1170S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1393					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTCTGACAAGAAGAGCTTCCC	0.428										HNSCC(12;0.0054)			30	142					0	0	0	0	C	105263991	A	C	105263991	3	2	113	1	0	0	0	0	1	0	0	0	13453	243	9	5	4283	5	RIMS2	8	105263991	Missense_Mutation	SNP	A	TCGA-CN-A498-01A-11D-A24D-08	27496913	105263991	41100031	57	21644											
ADCY8	114	broad.mit.edu	37	chr8	132051983	132051983	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgaggccaggctcaagtgTaggaccaagagagtgagttt	11	7	15	8	1	1	2	1	1	0	1	1	5	1	3	3	3	0	3	3	3	3	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr8:132051983T>G	ENST00000286355.5	-	1	2689	c.597A>C	c.(595-597)ctA>ctC	p.L199L	ADCY8_ENST00000377928.3_Silent_p.L199L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	199					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGCTCAAGTGTAGGACCAAGA	0.587										HNSCC(32;0.087)			4	56					0	0	0	0	G	132051983	T	G	132051983	2	3	113	1	0	0	0	0	0	0	0	1	300	1625	57	5		5	ADCY8	8	132051983	Silent	SNP	T	TCGA-CN-A498-01A-11D-A24D-08	26787992	132051983	14312039	58	21645											
PLEC	5339	broad.mit.edu	37	chr8	145001012	145001012	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtactggctcgtcagTgtggtcagctcgctgtagtg	5	14	14	8	2	2	1	2	1	0	0	4	1	2	1	0	2	2	5	0	2	2	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr8:145001012T>C	ENST00000322810.4	-	30	4564	c.4395A>G	c.(4393-4395)acA>acG	p.T1465T	PLEC_ENST00000354589.3_Silent_p.T1328T|PLEC_ENST00000436759.2_Silent_p.T1355T|PLEC_ENST00000354958.2_Silent_p.T1306T|PLEC_ENST00000357649.2_Silent_p.T1332T|PLEC_ENST00000527096.1_Silent_p.T1351T|PLEC_ENST00000356346.3_Silent_p.T1314T|PLEC_ENST00000398774.2_Silent_p.T1296T|PLEC_ENST00000345136.3_Silent_p.T1328T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1465	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCTCGTCAGTGTGGTCAGCT	0.627													6	61					0	0	0	0	C	145001012	T	C	145001012	2	2	113	1	0	0	0	0	0	0	0	1	12124	1683	59	5		5	PLEC	8	145001012	Silent	SNP	T	TCGA-CN-A498-01A-11D-A24D-08	12949029	145001012	1363010	59	21646											
KIAA1432	57589	broad.mit.edu	37	chr9	5762633	5762633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagatccgggagaaggaCagtaaccctaataaccaaag	17	4	9	11	1	0	2	0	0	0	2	1	4	1	3	4	2	2	1	4	2	5	3	rs139982016	by1000genomes	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr9:5762633C>T	ENST00000414202.2	+	18	2276	c.2085C>T	c.(2083-2085)gaC>gaT	p.D695D	KIAA1432_ENST00000449720.2_Silent_p.D579D|KIAA1432_ENST00000418622.3_Silent_p.D616D|KIAA1432_ENST00000251879.6_Silent_p.D695D|KIAA1432_ENST00000381532.2_Silent_p.D616D	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	695						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGGAGAAGGACAGTAACCCTA	0.433													8	47					0	0	0	0	T	5762633	C	T	5762633	2	4	113	1	0	0	0	0	0	0	0	1	8284	477	17	4		4	KIAA1432	9	5762633	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08		5762633	135450798	60	21647											
PTPRD	5789	broad.mit.edu	37	chr9	8436642	8436642	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgctttcaatctttcaaTgtggtctgcaagttccaaga	10	16	7	8	0	4	1	2	0	2	1	5	1	5	1	1	1	2	3	1	1	4	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr9:8436642T>G	ENST00000381196.4	-	32	4579	c.4036A>C	c.(4036-4038)Att>Ctt	p.I1346L	PTPRD_ENST00000540109.1_Missense_Mutation_p.I1346L|PTPRD_ENST00000537002.1_Missense_Mutation_p.I936L|PTPRD_ENST00000486161.1_Missense_Mutation_p.I939L|PTPRD_ENST00000356435.5_Missense_Mutation_p.I1346L|PTPRD_ENST00000355233.5_Missense_Mutation_p.I940L|PTPRD_ENST00000358503.5_Missense_Mutation_p.I1324L|PTPRD_ENST00000397606.3_Missense_Mutation_p.I939L|PTPRD_ENST00000397611.3_Missense_Mutation_p.I936L|PTPRD_ENST00000360074.4_Missense_Mutation_p.I1333L|PTPRD_ENST00000397617.3_Missense_Mutation_p.I939L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1346					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATCTTTCAATGTGGTCTGCA	0.348										TSP Lung(15;0.13)			4	55					0	0	0	0	G	8436642	T	G	8436642	3	3	113	1	0	0	0	0	1	0	0	0	12881	1464	51	5	1750	5	PTPRD	9	8436642	Missense_Mutation	SNP	T	TCGA-CN-A498-01A-11D-A24D-08	2674009	8436642	132776789	61	21648											
PTPRD	5789	broad.mit.edu	37	chr9	8485931	8485931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatcgggagaagggggatGttgatatccctataaagaag	13	9	13	6	1	0	3	0	1	0	2	3	5	2	4	2	3	0	1	2	3	6	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr9:8485931G>A	ENST00000381196.4	-	25	3429	c.2886C>T	c.(2884-2886)aaC>aaT	p.N962N	PTPRD_ENST00000540109.1_Silent_p.N962N|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.N962N|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000358503.5_Silent_p.N940N|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Silent_p.N949N|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	962	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.N962N(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAAGGGGGATGTTGATATCCC	0.468										TSP Lung(15;0.13)			9	104					0	0	0	0	A	8485931	G	A	8485931	2	1	113	1	0	0	0	0	0	0	0	1	12881	1368	48	4		4	PTPRD	9	8485931	Silent	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	49289	8485931	132727500	62	21649											
DNAI1	27019	broad.mit.edu	37	chr9	34517452	34517452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagctctcacccaatttgcGcaagatgccaaaggtacagg	13	7	9	12	1	1	1	1	0	1	1	2	1	1	1	2	2	4	3	2	2	5	2	rs150107677		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr9:34517452G>A	ENST00000242317.4	+	19	2159	c.1988G>A	c.(1987-1989)cGc>cAc	p.R663H		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	663					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CCCAATTTGCGCAAGATGCCA	0.552									Kartagener syndrome				5	43					0	0	0	0	A	34517452	G	A	34517452	3	1	113	1	0	0	0	0	1	0	0	0	4645	1087	38	1	2062	1	DNAI1	9	34517452	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	26031521	34517452	106695979	63	21650											
NOL8	55035	broad.mit.edu	37	chr9	95086373	95086373	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctgctgaactgattttgtAggtctgcctcagaaatgtcc	9	14	9	9	0	3	3	1	2	2	1	4	3	4	3	2	1	3	2	2	1	3	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr9:95086373A>G	ENST00000545558.1	-	2	563	c.71T>C	c.(70-72)cTa>cCa	p.L24P	NOL8_ENST00000542053.1_Intron|NOL8_ENST00000442668.2_Missense_Mutation_p.L24P|NOL8_ENST00000543985.1_5'UTR|NOL8_ENST00000535387.1_Missense_Mutation_p.L24P|NOL8_ENST00000358855.4_5'UTR			Q76FK4	NOL8_HUMAN	nucleolar protein 8	24	RRM.				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTGATTTTGTAGGTCTGCCTC	0.458													53	50					0	0	0	0	G	95086373	A	G	95086373	3	3	113	1	0	0	0	0	1	0	0	0	10597	420	15	5	3496	5	NOL8	9	95086373	Missense_Mutation	SNP	A	TCGA-CN-A498-01A-11D-A24D-08	60568921	95086373	46127058	64	21651											
GPR158	57512	broad.mit.edu	37	chr10	25861686	25861686	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtagtgttttggtttctCattggctggacttcatctgt	4	20	11	6	0	3	0	2	0	2	0	4	1	3	1	0	4	0	4	0	4	1	7			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr10:25861686C>A	ENST00000376351.3	+	7	1982	c.1623C>A	c.(1621-1623)ctC>ctA	p.L541L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	541						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTTGGTTTCTCATTGGCTGGA	0.453													12	49					2.27111e-07	2.38056e-07	1	0	A	25861686	C	A	25861686	2	1	113	1	0	0	0	0	0	0	0	1	6712	813	29	2		2	GPR158	10	25861686	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08		25861686	109673061	65	21652											
SORCS1	114815	broad.mit.edu	37	chr10	108459049	108459049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggccagggtgaagtagaCaccacgtgtgtctgagatgt	11	8	14	8	1	1	3	0	2	1	2	1	4	1	3	2	2	0	1	2	2	3	1			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr10:108459049C>T	ENST00000263054.6	-	9	1343	c.1336G>A	c.(1336-1338)Gtc>Atc	p.V446I	SORCS1_ENST00000369698.1_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.V446I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	446						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTGAAGTAGACACCACGTGTG	0.512													18	54					0	0	0	0	T	108459049	C	T	108459049	3	4	113	1	0	0	0	0	1	0	0	0	15018	478	17	4	2476	4	SORCS1	10	108459049	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	82597363	108459049	27075698	66	21653											
MUC5B	727897	broad.mit.edu	37	chr11	1269102	1269102	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactatgaaatccgtgtgttCtgctgcaactacggccactg	10	11	9	11	2	1	1	0	1	1	0	2	1	2	1	2	1	5	3	2	1	5	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr11:1269102C>G	ENST00000447027.1	+	31	11059	c.11001C>G	c.(10999-11001)ttC>ttG	p.F3667L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.F3664L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3664	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCGTGTGTTCTGCTGCAACT	0.602													22	72					0	0	0	0	G	1269102	C	G	1269102	3	3	113	1	0	0	0	0	1	0	0	0	10049	912	32	2	11123	2	MUC5B	11	1269102	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08		1269102	133737414	67	21654											
DCHS1	8642	broad.mit.edu	37	chr11	6654847	6654847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccacagaattggcccGtctggccaagggccaggcta	9	6	12	14	1	1	1	0	0	1	1	1	1	1	1	4	4	1	2	4	4	3	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr11:6654847G>A	ENST00000299441.3	-	5	2662	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	751	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R751W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATTGGCCCGTCTGGCCAAG	0.547													3	5					0	0	0	0	A	6654847	G	A	6654847	3	1	113	1	0	0	0	0	1	0	0	0	4319	1144	40	1	7713	1	DCHS1	11	6654847	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	5385745	6654847	128351669	68	21655											
ABCC8	6833	broad.mit.edu	37	chr11	17450176	17450176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggcacactgctcctcaCggatctctgcactggacagg	7	7	14	13	1	2	0	1	0	1	0	4	2	3	2	1	6	2	3	1	6	0	0			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr11:17450176C>T	ENST00000302539.4	-	13	1984	c.1859G>A	c.(1858-1860)cGt>cAt	p.R620H	ABCC8_ENST00000389817.3_Missense_Mutation_p.R620H	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	620			R -> C (in HHF1; dbSNP:rs58241708).		carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGCTCCTCACGGATCTCTGC	0.652													13	29					0	0	0	0	T	17450176	C	T	17450176	3	4	113	1	0	0	0	0	1	0	0	0	58	536	19	1	2994	1	ABCC8	11	17450176	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	10795329	17450176	117556340	69	21656											
OR5A1	219982	broad.mit.edu	37	chr11	59210828	59210828	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccatctgcacacacccatgTacttcttcctaagcaactta	11	11	3	16	0	2	0	0	0	2	0	3	0	3	0	3	0	4	3	3	0	4	5			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr11:59210828T>A	ENST00000302030.2	+	1	212	c.187T>A	c.(187-189)Tac>Aac	p.Y63N		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CACACCCATGTACTTCTTCCT	0.488													36	103					0	0	0	0	A	59210828	T	A	59210828	3	1	113	1	0	0	0	0	1	0	0	0	11210	1638	57	5	189	5	OR5A1	11	59210828	Missense_Mutation	SNP	T	TCGA-CN-A498-01A-11D-A24D-08	41760652	59210828	75795688	70	21657											
CTTN	2017	broad.mit.edu	37	chr11	70282397	70282397	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactttgtaggaaactcatCtccttcctgaggagccggga	9	11	10	11	1	3	1	2	1	1	0	5	4	4	4	3	3	2	1	3	3	2	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr11:70282397C>T	ENST00000376561.3	+	19	1959	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000301843.8_3'UTR	NM_001184740.1	NP_001171669.1	Q14247	SRC8_HUMAN	cortactin	0						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGAAACTCATCTCCTTCCTGA	0.582													271	54					0	0	0	0	T	70282397	C	T	70282397	2	4	113	1	0	0	0	0	0	0	0	1	4076	903	32	2		2	CTTN	11	70282397	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	11071569	70282397	64724119	71	21658											
TMEM218	219854	broad.mit.edu	37	chr11	124971137	124971137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaattcaccagctcgcGggaaaagcaacagaactgat	14	6	11	10	2	1	2	1	1	0	1	2	4	1	4	1	2	4	2	1	2	5	1			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr11:124971137G>T	ENST00000455225.1	-	3	824	c.173C>A	c.(172-174)cCg>cAg	p.P58Q	TMEM218_ENST00000528724.1_Missense_Mutation_p.P84Q|TMEM218_ENST00000532156.1_Silent_p.P42P|TMEM218_ENST00000529583.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000531909.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000527766.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000527271.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000526175.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000532407.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000279968.4_Missense_Mutation_p.P58Q|TMEM218_ENST00000531262.1_5'UTR|TMEM218_ENST00000529609.1_Silent_p.P42P			A2RU14	TM218_HUMAN	transmembrane protein 218	58						integral to membrane				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						ACCAGCTCGCGGGAAAAGCAA	0.423													12	19					4.36969e-10	4.75204e-10	1	0	T	124971137	G	T	124971137	3	4	113	1	0	0	0	0	1	0	0	0	16235	1116	39	3	182	3	TMEM218	11	124971137	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	54688740	124971137	10035379	72	21659											
FAM186B	84070	broad.mit.edu	37	chr12	49992673	49992673	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaagatgtagaggttctgGgccttgtaggaagcctccgt	9	10	15	7	1	1	2	0	0	1	2	2	4	2	4	3	4	1	3	3	4	4	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr12:49992673G>A	ENST00000544141.1	-	5	2558	c.1959C>T	c.(1957-1959)gcC>gcT	p.A653A	FAM186B_ENST00000257894.2_Silent_p.A743A|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	743						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGAGGTTCTGGGCCTTGTAGG	0.542													13	65					0	0	0	0	A	49992673	G	A	49992673	2	1	113	1	0	0	0	0	0	0	0	1	5554	1219	43	4		4	FAM186B	12	49992673	Silent	SNP	G	TCGA-CN-A498-01A-11D-A24D-08		49992673	83859222	73	21660											
MAP3K12	7786	broad.mit.edu	37	chr12	53876750	53876750	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagggtccccctcctaGgccccctgggcttcctggtc	2	9	13	17	0	0	1	0	1	0	0	4	1	3	1	6	5	0	2	6	5	1	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr12:53876750G>T	ENST00000267079.2	-	12	1963	c.1738C>A	c.(1738-1740)Cta>Ata	p.L580I	MAP3K12_ENST00000547035.1_Missense_Mutation_p.L613I|MAP3K12_ENST00000547488.1_Missense_Mutation_p.L613I	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	580					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCCCCTCCTAGGCCCCCTGGG	0.662													12	25					2.80697e-09	2.97813e-09	1	0	T	53876750	G	T	53876750	3	4	113	1	0	0	0	0	1	0	0	0	9315	991	35	4	857	4	MAP3K12	12	53876750	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	3884077	53876750	79975145	74	21661											
PDE1B	5153	broad.mit.edu	37	chr12	54963106	54963106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagaggagaagcccaagttCcgaagcattgtgcacgctgt	11	7	13	10	2	0	2	0	0	0	2	1	4	1	2	2	1	3	5	2	1	3	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr12:54963106C>A	ENST00000243052.3	+	4	802	c.366C>A	c.(364-366)ttC>ttA	p.F122L	PDE1B_ENST00000538346.1_Missense_Mutation_p.F81L|PDE1B_ENST00000550620.1_Missense_Mutation_p.F102L|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	122					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AGCCCAAGTTCCGAAGCATTG	0.647													12	32					0.00010058	0.000104172	1	0	A	54963106	C	A	54963106	3	1	113	1	0	0	0	0	1	0	0	0	11705	854	30	2	433	2	PDE1B	12	54963106	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	1086356	54963106	78888789	75	21662											
OR6C65	403282	broad.mit.edu	37	chr12	55795041	55795041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaacttgttcctcccatatGattgtggtttctgtttctta	6	20	6	9	0	3	1	1	1	2	0	5	1	5	1	2	1	1	3	2	1	3	7			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr12:55795041G>A	ENST00000379665.2	+	1	828	c.729G>A	c.(727-729)atG>atA	p.M243I		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						CCTCCCATATGATTGTGGTTT	0.398													30	88					0	0	0	0	A	55795041	G	A	55795041	3	1	113	1	0	0	0	0	1	0	0	0	11266	1290	45	2	731	2	OR6C65	12	55795041	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	831935	55795041	78056854	76	21663											
PRIM1	5557	broad.mit.edu	37	chr12	57135538	57135538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcatatacctgatatcTgctggctactttcttcaagt	9	15	8	9	0	3	1	1	1	2	0	3	1	3	1	1	2	3	3	1	2	5	6			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr12:57135538T>C	ENST00000338193.6	-	8	868	c.832A>G	c.(832-834)Aga>Gga	p.R278G		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	278					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						ACCTGATATCTGCTGGCTACT	0.363													55	159					0	0	0	0	C	57135538	T	C	57135538	3	2	113	1	0	0	0	0	1	0	0	0	12570	1588	55	5	454	5	PRIM1	12	57135538	Missense_Mutation	SNP	T	TCGA-CN-A498-01A-11D-A24D-08	1340497	57135538	76716357	77	21664											
TPH2	121278	broad.mit.edu	37	chr12	72366470	72366470	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaggacaatgtgcctcaactCgaagatgtctccatgtttct	10	12	9	10	1	3	1	1	0	2	1	5	4	3	2	2	1	2	1	2	1	3	1			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr12:72366470C>G	ENST00000333850.3	+	6	921	c.780C>G	c.(778-780)ctC>ctG	p.L260L		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	260					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.L260L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGCCTCAACTCGAAGATGTCT	0.438													58	185					0	0	0	0	G	72366470	C	G	72366470	2	3	113	1	0	0	0	0	0	0	0	1	16497	871	31	3		3	TPH2	12	72366470	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	15230932	72366470	61485425	78	21665											
RNF10	9921	broad.mit.edu	37	chr12	121009002	121009002	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttccctttcagactttctgCtgacccctctgtcacccact	5	14	5	17	0	4	2	2	1	2	1	5	2	5	2	4	0	1	2	4	0	0	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr12:121009002C>T	ENST00000325954.4	+	14	2511	c.2050C>T	c.(2050-2052)Ctg>Ttg	p.L684L	RNF10_ENST00000542701.1_Intron|RNF10_ENST00000413266.2_Silent_p.L689L	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	684					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGACTTTCTGCTGACCCCTCT	0.527													18	49					0	0	0	0	T	121009002	C	T	121009002	2	4	113	1	0	0	0	0	0	0	0	1	13507	796	28	4		4	RNF10	12	121009002	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	48642532	121009002	12842893	79	21666											
PARP4	143	broad.mit.edu	37	chr13	25074496	25074496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctgtggcactgtccGggcatagaccttctgttttc	4	14	9	14	1	2	1	0	0	2	1	5	1	4	1	4	2	0	3	4	2	1	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr13:25074496G>A	ENST00000381989.3	-	4	464	c.359C>T	c.(358-360)cCg>cTg	p.P120L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	120					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGCACTGTCCGGGCATAGACC	0.393													15	34					0	0	0	0	A	25074496	G	A	25074496	3	1	113	1	0	0	0	0	1	0	0	0	11534	1116	39	1	4939	1	PARP4	13	25074496	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08		25074496	90095382	80	21667											
PABPC3	5042	broad.mit.edu	37	chr13	25671519	25671519	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacgagctgtgcccaacCagcgagcacctccttcaggt	8	8	11	14	2	1	0	1	0	0	0	2	2	2	0	4	1	6	3	4	1	2	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr13:25671519C>G	ENST00000281589.3	+	1	1220	c.1183C>G	c.(1183-1185)Cag>Gag	p.Q395E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	395					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGTGCCCAACCAGCGAGCACC	0.502													9	74					0	0	0	0	G	25671519	C	G	25671519	3	3	113	1	0	0	0	0	1	0	0	0	11436	595	21	4	1185	4	PABPC3	13	25671519	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	597023	25671519	89498359	81	21668											
GPC6	10082	broad.mit.edu	37	chr13	95055334	95055334	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgtgtgtcccacggagtttGagtttgtcaccacagaggcc	8	10	12	11	2	1	2	1	1	0	1	2	3	2	3	3	2	0	2	3	2	0	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr13:95055334G>C	ENST00000377047.4	+	9	2146	c.1531G>C	c.(1531-1533)Gag>Cag	p.E511Q		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	511						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CACGGAGTTTGAGTTTGTCAC	0.567													40	49					0	0	0	0	C	95055334	G	C	95055334	3	2	113	1	0	0	0	0	1	0	0	0	6651	1291	45	2	1565	2	GPC6	13	95055334	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	69383815	95055334	20114544	82	21669											
OR10G2	26534	broad.mit.edu	37	chr14	22102498	22102498	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtagggcaggcggaaggtCaaggtggcctggatagaccc	10	5	17	9	1	1	1	1	0	0	1	1	3	1	3	2	7	0	2	2	7	4	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr14:22102498C>T	ENST00000542433.1	-	1	598	c.501G>A	c.(499-501)ttG>ttA	p.L167L		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GGCGGAAGGTCAAGGTGGCCT	0.562													37	67					0	0	0	0	T	22102498	C	T	22102498	2	4	113	1	0	0	0	0	0	0	0	1	10970	825	29	2		2	OR10G2	14	22102498	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08		22102498	85247042	83	21670											
SERPINA10	51156	broad.mit.edu	37	chr14	94756570	94756570	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctctcttgatctgggtttCagtcggccctgtggccccca	3	12	10	16	1	3	1	1	1	2	0	5	1	3	1	4	3	0	1	4	3	0	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr14:94756570C>G	ENST00000554723.1	-	2	899	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q	SERPINA10_ENST00000261994.4_Missense_Mutation_p.E121Q|SERPINA10_ENST00000393096.1_Missense_Mutation_p.E121Q|SERPINA10_ENST00000554173.1_Missense_Mutation_p.E121Q			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	121			T -> S (in dbSNP:rs2232700).		regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.E121Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ATCTGGGTTTCAGTCGGCCCT	0.592													13	38					0	0	0	0	G	94756570	C	G	94756570	3	3	113	1	0	0	0	0	1	0	0	0	14174	835	29	2	989	2	SERPINA10	14	94756570	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	72654072	94756570	12592970	84	21671											
BAG5	9529	broad.mit.edu	37	chr14	104026912	104026912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagtgcaatcaggacccctCgggccttgttcacctcacac	9	8	9	15	1	3	0	3	0	0	0	4	2	3	1	4	2	1	2	4	2	2	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr14:104026912C>T	ENST00000445922.2	-	2	836	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	BAG5_ENST00000337322.4_Missense_Mutation_p.R238Q|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Missense_Mutation_p.R197Q	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	197	BAG 3.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CAGGACCCCTCGGGCCTTGTT	0.532													30	71					0	0	0	0	T	104026912	C	T	104026912	3	4	113	1	0	0	0	0	1	0	0	0	1294	884	31	1	757	1	BAG5	14	104026912	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	9270342	104026912	3322628	85	21672											
SHC4	399694	broad.mit.edu	37	chr15	49255046	49255046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcggggtggggaggctgcGgcgagcccttgttcccgacc	3	6	20	12	4	0	0	0	0	0	0	1	3	1	1	3	7	2	2	3	7	0	2	rs142795434		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr15:49255046G>A	ENST00000332408.4	-	1	595	c.167C>T	c.(166-168)cCg>cTg	p.P56L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	56	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GGGAGGCTGCGGCGAGCCCTT	0.667													6	68					0	0	0	0	A	49255046	G	A	49255046	3	1	113	1	0	0	0	0	1	0	0	0	14361	1116	39	1	1773	1	SHC4	15	49255046	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08		49255046	53276346	86	21673											
LRRC49	54839	broad.mit.edu	37	chr15	71276542	71276542	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagattctgactctcctcAggacccctgtcagattgatg	11	11	8	11	0	4	4	2	2	2	2	5	5	4	5	3	1	0	0	3	1	2	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr15:71276542A>C	ENST00000260382.5	+	11	1375	c.1115A>C	c.(1114-1116)cAg>cCg	p.Q372P	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.Q362P|LRRC49_ENST00000443425.2_Missense_Mutation_p.Q328P|LRRC49_ENST00000560369.1_Missense_Mutation_p.Q377P|LRRC49_ENST00000560691.1_Missense_Mutation_p.Q78P|LRRC49_ENST00000560158.2_Missense_Mutation_p.Q60P	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	372						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GACTCTCCTCAGGACCCCTGT	0.413													6	88					0	0	0	0	C	71276542	A	C	71276542	3	2	113	1	0	0	0	0	1	0	0	0	9070	188	7	5	1157	5	LRRC49	15	71276542	Missense_Mutation	SNP	A	TCGA-CN-A498-01A-11D-A24D-08	22021496	71276542	31254850	87	21674											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84651422	84651422	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagggagcctatgagggaAtatcctgggatggaccacag	11	7	14	9	0	1	1	1	1	0	0	2	5	2	5	3	4	1	0	3	4	3	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr15:84651422A>T	ENST00000286744.5	+	21	3266	c.3042A>T	c.(3040-3042)gaA>gaT	p.E1014D	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E1014D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1014						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTATGAGGGAATATCCTGGGA	0.502													25	58					0	0	0	0	T	84651422	A	T	84651422	3	4	113	1	0	0	0	0	1	0	0	0	276	98	4	5	3120	5	ADAMTSL3	15	84651422	Missense_Mutation	SNP	A	TCGA-CN-A498-01A-11D-A24D-08	13374880	84651422	17879970	88	21675											
SLCO3A1	28232	broad.mit.edu	37	chr15	92706316	92706316	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acataggacaaagtttatctAtaacctggaagaccatgagt	16	10	8	7	0	1	2	0	1	1	1	1	4	1	4	2	2	1	1	2	2	6	5			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr15:92706316A>G	ENST00000318445.6	+	10	2298	c.2084A>G	c.(2083-2085)tAt>tGt	p.Y695C	RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Intron|RP11-152L20.3_ENST00000561674.1_RNA	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	695					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			AAGTTTATCTATAACCTGGAA	0.468													25	67					0	0	0	0	G	92706316	A	G	92706316	3	3	113	1	0	0	0	0	1	0	0	0	14816	449	16	5	2122	5	SLCO3A1	15	92706316	Missense_Mutation	SNP	A	TCGA-CN-A498-01A-11D-A24D-08	8054894	92706316	9825076	89	21676											
BAIAP3	8938	broad.mit.edu	37	chr16	1395034	1395034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgaccctggaggtggcctCggggctctttgagctctacc	5	10	14	12	1	2	2	0	2	2	0	3	4	2	3	3	5	2	2	3	5	1	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr16:1395034C>T	ENST00000324385.5	+	21	2137	c.1979C>T	c.(1978-1980)tCg>tTg	p.S660L	BAIAP3_ENST00000562208.1_Missense_Mutation_p.S602L|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S625L|BAIAP3_ENST00000421665.2_Missense_Mutation_p.S589L|BAIAP3_ENST00000397488.2_Missense_Mutation_p.S642L|BAIAP3_ENST00000397489.1_Missense_Mutation_p.S642L|BAIAP3_ENST00000568887.1_Missense_Mutation_p.S597L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	660					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GAGGTGGCCTCGGGGCTCTTT	0.647													20	46					0	0	0	0	T	1395034	C	T	1395034	3	4	113	1	0	0	0	0	1	0	0	0	1308	893	31	1	2061	1	BAIAP3	16	1395034	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08		1395034	88959719	90	21677											
CRAMP1L	57585	broad.mit.edu	37	chr16	1706889	1706889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtacgactggctggggcccGgccgccaggacccccgcccc	5	3	14	19	4	0	0	0	0	0	0	0	2	0	1	7	5	1	2	7	5	1	1			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr16:1706889G>A	ENST00000397412.3	+	10	2230	c.2131G>A	c.(2131-2133)Ggc>Agc	p.G711S	CRAMP1L_ENST00000262317.4_Missense_Mutation_p.G89S|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.G708S|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.G711S|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	711						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GCTGGGGCCCGGCCGCCAGGA	0.662													3	1					0	0	0	0	A	1706889	G	A	1706889	3	1	113	1	0	0	0	0	1	0	0	0	3876	1116	39	1	2165	1	CRAMP1L	16	1706889	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	311855	1706889	88647864	91	21678											
GDPD3	79153	broad.mit.edu	37	chr16	30124660	30124662	+	Splice_Site	DEL	CCT	CCT	-																															tctcacccctacccggctcaCctcctcggtgggcccccagg																										TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr16:30124660_30124662delCCT	ENST00000406256.3	-	1	515_517	c.139_splice	c.e1+1	p.GG46_splice		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	46	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						ACCCGGCTCACCTCCTCGGTGGG	0.64													11	330	---	---	---	---					-	30124662	CCT	-	30124660	8	5	113	1	0	1	0	1	0	0	1	0	6376	521	18	0	856	0	GDPD3	16	30124660	Splice_Site	DEL	CCT	TCGA-CN-A498-01A-11D-A24D-08	28417771	30124660	60230093	92	21679											
MT1H	4496	broad.mit.edu	37	chr16	56704426	56704426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattccttgcaggtggctccTgcgcctgcgccggctcctgc	2	11	12	16	3	0	0	0	0	0	0	3	0	3	0	5	3	4	3	5	3	1	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr16:56704426T>C	ENST00000569155.1	+	2	82	c.37T>C	c.(37-39)Tgc>Cgc	p.C13R	MT1H_ENST00000332374.4_Missense_Mutation_p.C13R			P80294	MT1H_HUMAN	metallothionein 1H	13	Beta.						metal ion binding|protein binding			lung(5)	5						AGGTGGCTCCTGCGCCTGCGC	0.547													11	34					0	0	0	0	C	56704426	T	C	56704426	3	2	113	1	0	0	0	0	1	0	0	0	9972	1580	55	5	43	5	MT1H	16	56704426	Missense_Mutation	SNP	T	TCGA-CN-A498-01A-11D-A24D-08	26579766	56704426	33650327	93	21680											
CNTNAP4	85445	broad.mit.edu	37	chr16	76592387	76592387	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatttcttttctctctctagGtctgatagctgttgtgattt	5	22	7	7	0	4	2	0	2	4	0	6	2	4	2	0	1	1	2	0	1	3	8			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr16:76592387G>A	ENST00000307431.8	+	25	4116	c.3730_splice	c.e25-1	p.G1244_splice	CNTNAP4_ENST00000377504.4_Splice_Site_p.G1196_splice|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Splice_Site_p.G1172_splice|CNTNAP4_ENST00000476707.1_Splice_Site_p.G1248_splice	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1245					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTCTCTCTAGGTCTGATAGCT	0.343													12	29					0	0	0	0	A	76592387	G	A	76592387	5	1	113	1	0	0	0	0	0	0	1	0	3679	1275	44	4	3841	4	CNTNAP4	16	76592387	Splice_Site	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	19887961	76592387	13762366	94	21681											
TP53	7157	broad.mit.edu	37	chr17	7577048	7577048	+	Frame_Shift_Del	DEL	T	T	-																															tgctccctgggggcagctcgTggtgaggctcccctttcttg																										TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr17:7577048delT	ENST00000420246.2	-	8	1022	c.890delA	c.(889-891)ccfs	p.H297fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.H297fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.H297fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H297fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	297	Interaction with HIPK1 (By similarity).		H -> D (in a sporadic cancer; somatic mutation).|H -> N (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(2)|p.L265_K305del41(1)|p.H297P(1)|p.G293fs*1(1)|p.H297fs*48(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGCAGCTCGTGGTGAGGCTC	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	33	---	---	---	---					-	7577048	T	-	7577048	7	5	113	1	0	1	0	1	0	0	0	0	16476	1696	59	0	396	0	TP53	17	7577048	Frame_Shift_Del	DEL	T	TCGA-CN-A498-01A-11D-A24D-08		7577048	73618162	95	21682											
MYH10	4628	broad.mit.edu	37	chr17	8438760	8438760	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggtgcaaaagggtggcCacgttgtcattcagggggtc	8	9	16	8	1	2	0	2	0	0	0	3	1	2	0	1	5	1	2	1	5	2	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr17:8438760C>T	ENST00000360416.3	-	16	1977	c.1839G>A	c.(1837-1839)gtG>gtA	p.V613V	MYH10_ENST00000269243.4_Silent_p.V603V|MYH10_ENST00000396239.1_Silent_p.V603V|MYH10_ENST00000379980.4_Silent_p.V619V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	603	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AAAGGGTGGCCACGTTGTCAT	0.458													14	55					0	0	0	0	T	8438760	C	T	8438760	2	4	113	1	0	0	0	0	0	0	0	1	10100	581	21	4		4	MYH10	17	8438760	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	861712	8438760	72756450	96	21683											
ALDH3A2	224	broad.mit.edu	37	chr17	19554870	19554870	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttataacagagtgaattcaAtgtgtacagtcaggaagtca	15	11	9	6	0	3	2	3	1	0	1	3	3	3	3	0	1	2	1	0	1	6	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr17:19554870A>G	ENST00000176643.6	+	2	610	c.164A>G	c.(163-165)aAt>aGt	p.N55S	ALDH3A2_ENST00000581518.1_Missense_Mutation_p.N55S|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.N55S|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.N55S|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.N55S			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	55					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	AGTGAATTCAATGTGTACAGT	0.398													54	47					0	0	0	0	G	19554870	A	G	19554870	3	3	113	1	0	0	0	0	1	0	0	0	498	101	4	5	170	5	ALDH3A2	17	19554870	Missense_Mutation	SNP	A	TCGA-CN-A498-01A-11D-A24D-08	11116110	19554870	61640340	97	21684											
KRT20	54474	broad.mit.edu	37	chr17	39036112	39036112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggctctgggaggtgcGtctcagctccgttagttgaa	7	11	13	10	2	3	1	2	1	2	0	5	2	4	2	1	3	2	4	1	3	3	2	rs147567550		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr17:39036112G>A	ENST00000167588.3	-	5	912	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	291	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TGGGAGGTGCGTCTCAGCTCC	0.443													21	46					0	0	0	0	A	39036112	G	A	39036112	3	1	113	1	0	0	0	0	1	0	0	0	8510	1145	40	1	419	1	KRT20	17	39036112	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	19481242	39036112	42159098	98	21685											
CNDP2	55748	broad.mit.edu	37	chr18	72167227	72167227	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggcggccctcactaccCtgtttaagtacatagatgaa	12	10	9	10	1	1	3	1	1	0	2	1	3	1	3	2	2	2	2	2	2	5	5			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr18:72167227C>T	ENST00000324262.4	+	2	335	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	CNDP2_ENST00000324301.8_Silent_p.L7L|CNDP2_ENST00000579847.1_Silent_p.L7L	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	7						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CCTCACTACCCTGTTTAAGTA	0.453													12	29					0	0	0	0	T	72167227	C	T	72167227	2	4	113	1	0	0	0	0	0	0	0	1	3624	680	24	4		4	CNDP2	18	72167227	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08		72167227	5910021	99	21686											
PQLC1	80148	broad.mit.edu	37	chr18	77679290	77679290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtctccacaaacagggCggagtcaatggacaggtagg	12	5	15	9	1	2	0	1	0	1	0	3	2	2	2	1	6	1	1	1	6	3	1	rs114579767	by1000genomes	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr18:77679290C>T	ENST00000397778.2	-	5	684	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	PQLC1_ENST00000409073.1_Missense_Mutation_p.A85T|PQLC1_ENST00000357575.4_Missense_Mutation_p.A150T|PQLC1_ENST00000590381.1_Intron	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	168						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		ACAAACAGGGCGGAGTCAATG	0.637													4	42					0	0	0	0	T	77679290	C	T	77679290	3	4	113	1	0	0	0	0	1	0	0	0	12494	768	27	1	321	1	PQLC1	18	77679290	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	5512063	77679290	397958	100	21687											
POLR2E	5434	broad.mit.edu	37	chr19	1091820	1091820	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagggtgtcatgccctgctGcaccacgatgagagcccgtg	7	7	15	12	2	1	1	1	1	0	1	1	4	1	2	3	2	4	2	3	2	0	0			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:1091820G>A	ENST00000215587.7	-	3	602	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	POLR2E_ENST00000585838.1_5'UTR|POLR2E_ENST00000586746.1_Nonsense_Mutation_p.Q107*			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	107					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		ATGCCCTGCTGCACCACGATG	0.652													11	40					0	0	0	0	A	1091820	G	A	1091820	4	1	113	1	0	0	0	0	0	1	0	0	12290	1328	46	4	333	4	POLR2E	19	1091820	Nonsense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08		1091820	58037163	101	21688											
SAFB2	9667	broad.mit.edu	37	chr19	5622657	5622657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagccgcctcgtcccagtctCcgcaacgcccgggccgagag	6	4	13	18	6	1	1	0	0	1	1	4	3	2	1	6	1	2	1	6	1	1	0			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:5622657C>T	ENST00000252542.4	-	1	334	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GTCCCAGTCTCCGCAACGCCC	0.692													3	6					0	0	0	0	T	5622657	C	T	5622657	3	4	113	1	0	0	0	0	1	0	0	0	13892	864	30	2	2875	2	SAFB2	19	5622657	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	4530837	5622657	53506326	102	21689											
GTF2F1	2962	broad.mit.edu	37	chr19	6380687	6380687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcttggctgcaggcatctCgctcacccgcttccctgtgg	3	10	11	17	3	2	0	1	0	1	0	4	0	3	0	3	3	1	6	3	3	0	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:6380687C>T	ENST00000394456.5	-	12	1710	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	GTF2F1_ENST00000429701.2_Missense_Mutation_p.E331K	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	416					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCAGGCATCTCGCTCACCCGC	0.652													13	41					0	0	0	0	T	6380687	C	T	6380687	3	4	113	1	0	0	0	0	1	0	0	0	6908	893	31	1	315	1	GTF2F1	19	6380687	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	758030	6380687	52748296	103	21690											
C3	718	broad.mit.edu	37	chr19	6696667	6696667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgttcattctgattccttCcggctacgcagtgttagagg	6	16	10	9	2	2	2	1	1	1	1	4	2	4	2	2	2	1	4	2	2	2	7			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:6696667C>T	ENST00000245907.6	-	22	2892	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	934					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTGATTCCTTCCGGCTACGCA	0.577													34	123					0	0	0	0	T	6696667	C	T	6696667	3	4	113	1	0	0	0	0	1	0	0	0	2224	864	30	2	2271	2	C3	19	6696667	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	315980	6696667	52432316	104	21691											
ZNF560	147741	broad.mit.edu	37	chr19	9577328	9577328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcacattcaaagggtttCtctcccatatgagttcttaa	10	15	7	9	0	4	1	2	1	2	0	6	1	5	1	1	2	0	2	1	2	3	5			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:9577328C>A	ENST00000301480.4	-	10	2508	c.2295G>T	c.(2293-2295)gaG>gaT	p.E765D		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	765					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CAAAGGGTTTCTCTCCCATAT	0.438													24	72					1.85244e-09	1.98966e-09	1	0	A	9577328	C	A	9577328	3	1	113	1	0	0	0	0	1	0	0	0	18086	912	32	2	81	2	ZNF560	19	9577328	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	2880661	9577328	49551655	105	21692											
ZNF20	7568	broad.mit.edu	37	chr19	12243777	12243777	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttcatgtatacgcaaggaAgaaaaatacttgaatacttt	16	13	6	6	1	1	2	1	1	0	1	1	3	1	3	0	1	3	2	0	1	9	7			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:12243777A>C	ENST00000334213.5	-	4	1448	c.1224T>G	c.(1222-1224)tcT>tcG	p.S408S	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						TACGCAAGGAAGAAAAATACT	0.403													8	59					0	0	0	0	C	12243777	A	C	12243777	2	2	113	1	0	0	0	0	0	0	0	1	17856	59	3	5		5	ZNF20	19	12243777	Silent	SNP	A	TCGA-CN-A498-01A-11D-A24D-08	2666449	12243777	46885206	106	21693											
NPHS1	4868	broad.mit.edu	37	chr19	36342482	36342482	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctgaccccacaacgcaGctccactgaggccccctcca	8	5	9	19	1	0	2	0	2	0	0	2	2	2	2	6	2	3	3	6	2	1	0	rs114385015	byFrequency	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:36342482G>A	ENST00000378910.5	-	2	150	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	NPHS1_ENST00000353632.6_Silent_p.L51L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	51	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACAACGCAGCTCCACTGAG	0.682													5	30					0	0	0	0	A	36342482	G	A	36342482	2	1	113	1	0	0	0	0	0	0	0	1	10652	962	34	4		4	NPHS1	19	36342482	Silent	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	24098705	36342482	22786501	107	21694											
POU2F2	5452	broad.mit.edu	37	chr19	42600296	42600296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcgaattgctccagctcctCcagatcactgggctcctcgg	6	9	11	15	2	1	1	1	0	0	1	6	2	5	1	4	3	2	3	4	3	1	1			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:42600296C>T	ENST00000389341.5	-	8	619	c.553G>A	c.(553-555)Gag>Aag	p.E185K	POU2F2_ENST00000526816.2_Missense_Mutation_p.E201K|POU2F2_ENST00000560558.1_Missense_Mutation_p.E146K|POU2F2_ENST00000342301.4_Missense_Mutation_p.E201K|POU2F2_ENST00000560398.1_Missense_Mutation_p.E207K|POU2F2_ENST00000529952.1_Missense_Mutation_p.E201K|POU2F2_ENST00000533720.1_Missense_Mutation_p.E185K|POU2F2_ENST00000529067.1_Missense_Mutation_p.E185K	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	201					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				TCCAGCTCCTCCAGATCACTG	0.687													10	16					0	0	0	0	T	42600296	C	T	42600296	3	4	113	1	0	0	0	0	1	0	0	0	12343	864	30	2	866	2	POU2F2	19	42600296	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	6257814	42600296	16528687	108	21695											
ZNF578	147660	broad.mit.edu	37	chr19	53015266	53015266	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacaaatgtaaggtttgTgacaaggctttcatgtgcca	11	13	9	8	0	1	1	1	1	0	0	1	1	1	1	2	2	2	3	2	2	4	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:53015266T>C	ENST00000421239.2	+	6	1876	c.1632T>C	c.(1630-1632)tgT>tgC	p.C544C	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GTAAGGTTTGTGACAAGGCTT	0.393													27	71					0	0	0	0	C	53015266	T	C	53015266	2	2	113	1	0	0	0	0	0	0	0	1	18105	1702	59	5		5	ZNF578	19	53015266	Silent	SNP	T	TCGA-CN-A498-01A-11D-A24D-08	10414970	53015266	6113717	109	21696											
ZNF28	7576	broad.mit.edu	37	chr19	53304912	53304912	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacgcttctgtattgccttgCcctgttgagaagaatgtctt	8	15	9	9	1	2	2	0	1	2	2	2	3	2	2	2	0	3	3	2	0	4	6			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:53304912C>G	ENST00000594602.1	-	5	405	c.304G>C	c.(304-306)Gca>Cca	p.A102P	ZNF28_ENST00000339844.6_Splice_Site_p.A52_splice|ZNF28_ENST00000438150.2_Silent_p.G9G|ZNF28_ENST00000414252.2_Silent_p.G9G|ZNF28_ENST00000360272.4_Silent_p.G9G|ZNF28_ENST00000457749.2_Silent_p.G62G			P17035	ZNF28_HUMAN	zinc finger protein 28	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TATTGCCTTGCCCTGTTGAGA	0.378													45	163					0	0	0	0	G	53304912	C	G	53304912	3	3	113	1	0	0	0	0	1	0	0	0	17908	726	26	4	1974	4	ZNF28	19	53304912	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	289646	53304912	5824071	110	21697											
SIRPB2	284759	broad.mit.edu	37	chr20	1457910	1457910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtctgggactgctcccttCccatgaccaagccattcatg	8	10	9	14	0	2	1	1	1	1	0	4	3	4	2	4	1	2	1	4	1	1	2	rs6135048	by1000genomes	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr20:1457910C>A	ENST00000537284.1	-	5	854	c.518G>T	c.(517-519)gGa>gTa	p.G173V	SIRPB2_ENST00000381630.1_3'UTR|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000359801.3_Intron			Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	0	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTGCTCCCTTCCCATGACCAA	0.552													4	57					0.000602214	0.000616384	1	0	A	1457910	C	A	1457910	3	1	113	1	0	0	0	0	1	0	0	0	14422	870	30	2		2	SIRPB2	20	1457910	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08		1457910	61567610	111	21698											
SEL1L2	80343	broad.mit.edu	37	chr20	13846130	13846130	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggaatttctcagcccAgtggcctagttcacagacac	10	10	9	12	0	3	1	3	0	1	1	4	2	3	2	2	2	1	1	2	2	2	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr20:13846130A>G	ENST00000284951.5	-	16	1509	c.1435T>C	c.(1435-1437)Tgg>Cgg	p.W479R	SEL1L2_ENST00000486903.1_Intron|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	479						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTCTCAGCCCAGTGGCCTAGT	0.433													17	48					0	0	0	0	G	13846130	A	G	13846130	3	3	113	1	0	0	0	0	1	0	0	0	14098	188	7	5	651	5	SEL1L2	20	13846130	Missense_Mutation	SNP	A	TCGA-CN-A498-01A-11D-A24D-08	12388220	13846130	49179390	112	21699											
ENTPD6	955	broad.mit.edu	37	chr20	25205869	25205869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctggagacacagccgcaGagcagccccttctcatgcat	10	6	9	16	1	1	2	1	0	1	2	2	3	1	2	4	1	4	3	4	1	0	1			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr20:25205869G>A	ENST00000433259.2	+	13	1339	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	ENTPD6_ENST00000376652.4_Silent_p.Q424Q|ENTPD6_ENST00000360031.2_Silent_p.Q423Q|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000354989.5_Silent_p.Q407Q			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	0						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CACAGCCGCAGAGCAGCCCCT	0.627													7	24					0	0	0	0	A	25205869	G	A	25205869	3	1	113	1	0	0	0	0	1	0	0	0	5181	933	33	2	1329	2	ENTPD6	20	25205869	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	11359739	25205869	37819651	113	21700											
ASXL1	171023	broad.mit.edu	37	chr20	31022592	31022592	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtacgtcagatctacagCgaacacaactactgccgcct	12	8	8	13	3	2	1	1	0	1	1	2	2	2	1	2	0	7	1	2	0	5	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr20:31022592C>T	ENST00000375687.4	+	13	2501	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.R688*	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	693					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.R693*(7)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGATCTACAGCGAACACAACT	0.592			"F, N, Mis"		"MDS, CMML"								5	19					0	0	0	0	T	31022592	C	T	31022592	4	4	113	1	0	0	0	0	0	1	0	0	1070	760	27	1	2133	1	ASXL1	20	31022592	Nonsense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	5816723	31022592	32002928	114	21701											
ZNF341	84905	broad.mit.edu	37	chr20	32379181	32379181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccatcgttgtgggtggtgCggtgggcgcggaaactgagc	5	9	19	8	4	0	1	0	1	0	0	2	2	1	2	1	5	3	1	1	5	1	1			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr20:32379181C>T	ENST00000375200.1	+	15	2788	c.2423C>T	c.(2422-2424)gCg>gTg	p.A808V	RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.A801V			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	808					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GTGGGTGGTGCGGTGGGCGCG	0.701													4	39					0	0	0	0	T	32379181	C	T	32379181	3	4	113	1	0	0	0	0	1	0	0	0	17952	768	27	1	2460	1	ZNF341	20	32379181	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	1356589	32379181	30646339	115	21702											
ZFP64	55734	broad.mit.edu	37	chr20	50768911	50768911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcagtgcaagtaatacccGaactggtaatgaaagtttga	15	10	10	6	1	1	2	1	2	0	0	1	3	1	2	1	1	3	4	1	1	6	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr20:50768911G>A	ENST00000216923.4	-	6	2169	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.S605L|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.S553L	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTAATACCCGAACTGGTAAT	0.562													12	44					0	0	0	0	A	50768911	G	A	50768911	3	1	113	1	0	0	0	0	1	0	0	0	17747	1059	37	1	1420	1	ZFP64	20	50768911	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	18389730	50768911	12256609	116	21703											
BACH1	571	broad.mit.edu	37	chr21	30723990	30723990	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgatgtgccaagaagtgttCcataccattctgagaactct	11	12	8	10	0	2	3	0	2	2	2	3	4	3	3	3	0	3	1	3	0	4	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr21:30723990C>G	ENST00000504298.1	+	0	36					NR_027655.1																						AAGAAGTGTTCCATACCATTC	0.433													14	53					0	0	0	0	G	30723990	C	G	30723990	1	3	113	0	1	0	0	0	0	0	0	0	1287	870	30	2		2	BACH1	21	30723990	RNA	SNP	C	TCGA-CN-A498-01A-11D-A24D-08		30723990	17405905	117	21704											
UMODL1	89766	broad.mit.edu	37	chr21	43524048	43524048	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgagaatgcagatcgtgtCtctccaggcgggaagtgtgg	8	9	16	8	2	1	2	0	1	1	2	4	4	2	3	1	3	1	2	1	3	2	0			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr21:43524048C>G	ENST00000400427.1	+	9	1550	c.1154C>G	c.(1153-1155)tCt>tGt	p.S385C	UMODL1_ENST00000400424.1_Missense_Mutation_p.S385C|UMODL1_ENST00000408989.2_Missense_Mutation_p.S457C|UMODL1_ENST00000408910.2_Missense_Mutation_p.S457C|C21orf128_ENST00000329015.2_Missense_Mutation_p.R62T	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	457	Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGATCGTGTCTCTCCAGGCG	0.602													26	95					0	0	0	0	G	43524048	C	G	43524048	3	3	113	1	0	0	0	0	1	0	0	0	17076	913	32	2	1404	2	UMODL1	21	43524048	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	12800058	43524048	4605847	118	21705											
ADORA2A	135	broad.mit.edu	37	chr22	24829669	24829680	+	In_Frame_Del	DEL	CATTGACCGCTA	CATTGACCGCTA	-																															ttcagtctcctggccatcgcCattgaccgctacattgccat																										TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr22:24829669_24829680delCATTGACCGCTA	ENST00000337539.7	+	2	756_767	c.297_308delCATTGACCGCTA	c.(295-309)gcc>gc	p.AIDRY99del	ADORA2A-AS1_ENST00000326341.4_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A_ENST00000496497.1_Intron	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	99					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TGGCCATCGCCATTGACCGCTACATTGCCATC	0.627													14	59	---	---	---	---					-	24829680	CATTGACCGCTA	-	24829669	7	5	113	1	0	1	0	1	0	0	0	0	327	581	21	0	299	0	ADORA2A	22	24829669	In_Frame_Del	DEL	CATTGACCGCTA	TCGA-CN-A498-01A-11D-A24D-08		24829669	26474897	119	21706											
SULT4A1	25830	broad.mit.edu	37	chr22	44237688	44237688	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggccctgggtaccttgatGatgtccaggcccggctgtgg	4	10	15	12	1	0	2	0	2	0	0	1	2	1	2	4	5	1	2	4	5	1	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr22:44237688G>A	ENST00000330884.4	-	2	414	c.294C>T	c.(292-294)atC>atT	p.I98I	SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Silent_p.I98I	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	98					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		GTACCTTGATGATGTCCAGGC	0.587													38	65					0	0	0	0	A	44237688	G	A	44237688	2	1	113	1	0	0	0	0	0	0	0	1	15473	1280	45	2		2	SULT4A1	22	44237688	Silent	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	19408019	44237688	7066878	120	21707											
RS1	6247	broad.mit.edu	37	chrX	18662615	18662615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcggtcctgtactgcaCgctgtacttggtcatccact	6	13	8	14	2	2	0	2	0	0	0	5	0	4	0	2	2	3	4	2	2	2	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:18662615C>A	ENST00000379984.3	-	5	497	c.457G>T	c.(457-459)Gtg>Ttg	p.V153L	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	153	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CTGTACTGCACGCTGTACTTG	0.507													32	89					4.74835e-14	5.29624e-14	1	0	A	18662615	C	A	18662615	3	1	113	1	0	0	0	0	1	0	0	0	13778	536	19	3	225	3	RS1	23	18662615	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08		18662615	136607945	121	21708											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998101	27998101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actaccgctcacgacaaactCactccgggggccatagaaat	13	6	8	14	3	2	1	2	0	0	1	3	2	3	1	3	2	2	1	3	2	4	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:27998101C>T	ENST00000441525.1	-	1	1465	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	451										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ACGACAAACTCACTCCGGGGG	0.458													6	29					0	0	0	0	T	27998101	C	T	27998101	3	4	113	1	0	0	0	0	1	0	0	0	4310	835	29	2	455	2	DCAF8L1	23	27998101	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	9335486	27998101	127272459	122	21709											
DMD	1756	broad.mit.edu	37	chrX	32519946	32519946	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaacttctcagcttttTctcgctctatggcctgcagc	5	16	7	13	1	4	1	1	1	4	0	6	1	4	1	1	1	4	3	1	1	2	5			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:32519946T>C	ENST00000357033.4	-	19	2512	c.2306A>G	c.(2305-2307)gAa>gGa	p.E769G	DMD_ENST00000378677.2_Missense_Mutation_p.E765G	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	769					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCAGCTTTTTCTCGCTCTAT	0.418													8	18					0	0	0	0	C	32519946	T	C	32519946	3	2	113	1	0	0	0	0	1	0	0	0	4617	1783	62	5	9238	5	DMD	23	32519946	Missense_Mutation	SNP	T	TCGA-CN-A498-01A-11D-A24D-08	4521845	32519946	122750614	123	21710											
CFP	5199	broad.mit.edu	37	chrX	47486637	47486637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggctcaggtgcagaacaCttgcggcttcgtgtctcctt	6	11	13	11	2	2	1	1	0	1	1	4	2	2	1	1	3	3	3	1	3	1	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:47486637C>T	ENST00000247153.3	-	6	910	c.669G>A	c.(667-669)aaG>aaA	p.K223K	CFP_ENST00000396992.3_Silent_p.K223K|CFP_ENST00000377005.2_Silent_p.K223K	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	223	TSP type-1 3.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GTGCAGAACACTTGCGGCTTC	0.692													8	26					0	0	0	0	T	47486637	C	T	47486637	2	4	113	1	0	0	0	0	0	0	0	1	3322	564	20	4		4	CFP	23	47486637	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	14966691	47486637	107783923	124	21711											
SSX3	10214	broad.mit.edu	37	chrX	48208993	48208993	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttattgcagtggtctggAaccgaacctgcagtatctct	9	13	9	10	1	2	0	0	0	2	0	3	2	2	1	2	2	4	3	2	2	4	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:48208993A>G	ENST00000376893.3	-	7	589	c.496T>C	c.(496-498)Tcc>Ccc	p.S166P	SSX3_ENST00000376895.1_Intron|SSX3_ENST00000298396.2_Intron			Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						agtggtctggaaccgaacctg	0.413													11	40					0	0	0	0	G	48208993	A	G	48208993	3	3	113	1	0	0	0	0	1	0	0	0	15295	246	9	5	125	5	SSX3	23	48208993	Missense_Mutation	SNP	A	TCGA-CN-A498-01A-11D-A24D-08	722356	48208993	107061567	125	21712											
CCNB3	85417	broad.mit.edu	37	chrX	50052898	50052898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaggaagaaccctacaactGaggagacagtacttaccaag	16	7	9	9	0	0	3	0	1	0	2	0	5	0	4	2	2	5	1	2	2	8	4			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:50052898G>A	ENST00000376042.1	+	6	2027	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E577K			Q8WWL7	CCNB3_HUMAN	cyclin B3	577					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCCTACAACTGAGGAGACAGT	0.408													15	24					0	0	0	0	A	50052898	G	A	50052898	3	1	113	1	0	0	0	0	1	0	0	0	2943	1291	45	2	1743	2	CCNB3	23	50052898	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	1843905	50052898	105217662	126	21713											
KDM5C	8242	broad.mit.edu	37	chrX	53230783	53230783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttgcaccatgatgaaCatctccttatgcacagctgc	9	13	6	13	0	3	2	0	2	3	0	4	2	3	2	2	0	5	3	2	0	2	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:53230783C>A	ENST00000452825.3	-	12	2341	c.1809G>T	c.(1807-1809)atG>atT	p.M603I	KDM5C_ENST00000404049.3_Missense_Mutation_p.M669I|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375379.3_Missense_Mutation_p.M670I|KDM5C_ENST00000375383.3_Missense_Mutation_p.M629I|KDM5C_ENST00000375401.3_Missense_Mutation_p.M670I	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	670	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCATGATGAACATCTCCTTAT	0.557			"N, F, S"		clear cell renal carcinoma								23	59					7.33628e-21	8.28904e-21	1	0	A	53230783	C	A	53230783	3	1	113	1	0	0	0	0	1	0	0	0	8187	478	17	4	2822	4	KDM5C	23	53230783	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	3177885	53230783	102039777	127	21714											
ZXDB	158586	broad.mit.edu	37	chrX	57620826	57620826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttggattccccaatgcagCaggaaaccatggttctcaga	11	10	10	10	0	1	1	1	0	1	1	3	3	2	3	3	3	3	4	3	3	2	3			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:57620826C>T	ENST00000374888.1	+	1	2558	c.2345C>T	c.(2344-2346)gCa>gTa	p.A782V		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	782					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCCAATGCAGCAGGAAACCAT	0.453													30	116					0	0	0	0	T	57620826	C	T	57620826	3	4	113	1	0	0	0	0	1	0	0	0	18342	710	25	4	2347	4	ZXDB	23	57620826	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	4390043	57620826	97649734	128	21715											
MED12	9968	broad.mit.edu	37	chrX	70351428	70351428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggaccatgcgccagtCttccttggagctgcagctca	7	9	11	14	1	2	0	1	0	1	0	3	2	3	2	4	2	4	3	4	2	0	2			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:70351428C>A	ENST00000333646.6	+	29	4275	c.4076C>A	c.(4075-4077)tCt>tAt	p.S1359Y	MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Missense_Mutation_p.S1359Y|MED12_ENST00000374080.3_Missense_Mutation_p.S1359Y	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1359					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATGCGCCAGTCTTCCTTGGAG	0.552			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						18	48					2.35188e-11	2.57376e-11	1	0	A	70351428	C	A	70351428	3	1	113	1	0	0	0	0	1	0	0	0	9497	913	32	2	4190	2	MED12	23	70351428	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	12730602	70351428	84919132	129	21716											
NLGN3	54413	broad.mit.edu	37	chrX	70389690	70389690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctccagaggaggagctgGcagcattacaactgggcccc	9	6	13	13	0	0	1	0	0	0	1	1	3	1	3	3	4	5	4	3	4	2	1			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:70389690G>A	ENST00000374051.3	+	7	2552	c.2230G>A	c.(2230-2232)Gca>Aca	p.A744T	NLGN3_ENST00000536169.1_Missense_Mutation_p.A724T|NLGN3_ENST00000358741.3_Missense_Mutation_p.A764T|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	764					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGAGGAGCTGGCAGCATTACA	0.687													5	9					0	0	0	0	A	70389690	G	A	70389690	3	1	113	1	0	0	0	0	1	0	0	0	10533	1203	42	4	2316	4	NLGN3	23	70389690	Missense_Mutation	SNP	G	TCGA-CN-A498-01A-11D-A24D-08	38262	70389690	84880870	130	21717											
NAP1L3	4675	broad.mit.edu	37	chrX	92927424	92927424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcctagctcttttaagatCtacactgtcctgaagccttt	8	16	5	12	0	2	2	0	1	2	1	4	2	4	2	3	0	3	1	3	0	4	6			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:92927424C>G	ENST00000373079.3	-	1	1143	c.880G>C	c.(880-882)Gat>Cat	p.D294H	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	294					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTTTTAAGATCTACACTGTCC	0.438													25	85					0	0	0	0	G	92927424	C	G	92927424	3	3	113	1	0	0	0	0	1	0	0	0	10228	913	32	2	644	2	NAP1L3	23	92927424	Missense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	22537734	92927424	62343136	131	21718											
TCEAL7	56849	broad.mit.edu	37	chrX	102586458	102586458	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttagacagaggctgcttCagtctctcgaagaatttaaa	13	13	8	7	1	2	3	1	0	1	3	4	4	2	3	0	1	1	2	0	1	5	5			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:102586458C>T	ENST00000332431.4	+	3	381	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	TCEAL7_ENST00000372666.1_Nonsense_Mutation_p.Q43*	NM_152278.3	NP_689491.1	Q9BRU2	TCAL7_HUMAN	transcription elongation factor A (SII)-like 7	43					negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2						gaggctgcttcagtctctcga	0.438													23	42					0	0	0	0	T	102586458	C	T	102586458	4	4	113	1	0	0	0	0	0	1	0	0	15770	827	29	2	129	2	TCEAL7	23	102586458	Nonsense_Mutation	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	9659034	102586458	52684102	132	21719											
SLITRK2	84631	broad.mit.edu	37	chrX	144905535	144905535	+	Frame_Shift_Del	DEL	G	G	-																															agatctgcaggagaacccctGggactgtacctgtgacatca																										TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:144905535delG	ENST00000370490.1	+	1	5847	c.1592delG	c.(1591-1593)tgfs	p.W531fs	SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.W531fs|SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.W531fs|SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.W531fs|SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.W531fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	531	LRRCT 2.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAACCCCTGGGACTGTACC	0.498													22	81	---	---	---	---					-	144905535	G	-	144905535	7	5	113	1	0	1	0	1	0	0	0	0	14831	1357	47	0	1594	0	SLITRK2	23	144905535	Frame_Shift_Del	DEL	G	TCGA-CN-A498-01A-11D-A24D-08	42319077	144905535	10365025	133	21720											
TAZ	6901	broad.mit.edu	37	chrX	153648421	153648421	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccccatcatcctgcccCtgtggcatgtcggtgagcct	6	10	9	16	1	2	1	2	1	0	0	4	1	3	1	6	2	3	1	6	2	1	0			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:153648421C>T	ENST00000299328.5	+	8	923	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	TAZ_ENST00000351413.4_Silent_p.L198L|TAZ_ENST00000369790.4_Silent_p.L168L|TAZ_ENST00000350743.4_Silent_p.L182L|TAZ_ENST00000369776.4_Silent_p.L143L|TAZ_ENST00000498029.1_3'UTR	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	212					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCCTGCCCCTGTGGCATGT	0.637													36	97					0	0	0	0	T	153648421	C	T	153648421	2	4	113	1	0	0	0	0	0	0	0	1	15687	680	24	4		4	TAZ	23	153648421	Silent	SNP	C	TCGA-CN-A498-01A-11D-A24D-08	8742886	153648421	1622139	134	21721											
RHCE	6006	broad.mit.edu	37	chr1	25701870	25701870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagacgtgagagctatcaCgatggccaagctgagttccc	11	7	11	12	2	1	3	1	2	0	2	2	5	2	3	3	1	2	3	3	1	2	2	rs147526117	byFrequency	TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr1:25701870C>T	ENST00000349320.3	-	10	1463	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	RHCE_ENST00000455194.1_Missense_Mutation_p.V270M|RHCE_ENST00000425135.1_Missense_Mutation_p.R284H|RHCE_ENST00000413854.1_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.V359M|RHCE_ENST00000349438.4_Missense_Mutation_p.R330H|RHCE_ENST00000346452.4_Missense_Mutation_p.V224M|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000294413.7_Missense_Mutation_p.V375M|RHCE_ENST00000243186.6_Intron			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	375						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGCTATCACGATGGCCAAG	0.577													26	175					0	0	0	0	T	25701870	C	T	25701870	3	4	114	1	0	0	0	0	1	0	0	0	13408	536	19	1	142	1	RHCE	1	25701870	Missense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08		25701870	223548751	1	21722											
KDM5B	10765	broad.mit.edu	37	chr1	202715271	202715271	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcgttcttcctacttaccGcaatttatatttgtaaggag	11	16	6	8	2	1	0	0	0	1	0	3	1	2	1	2	1	2	3	2	1	7	9			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr1:202715271G>A	ENST00000367265.3	-	15	3361	c.2198_splice	c.e15+1	p.R733_splice	KDM5B_ENST00000367264.2_Splice_Site_p.R769_splice	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	733					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCTACTTACCGCAATTTATAT	0.378													13	48					0	0	0	0	A	202715271	G	A	202715271	5	1	114	1	0	0	0	0	0	0	1	0	8186	1101	38	1	2489	1	KDM5B	1	202715271	Splice_Site	SNP	G	TCGA-CN-A499-01A-11D-A24D-08	177013401	202715271	46535350	2	21723											
OR1C1	26188	broad.mit.edu	37	chr1	247921375	247921375	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacacacagaaggaggcTgtccatattcacaaaagaaa	18	6	7	10	0	2	2	2	0	0	2	3	3	3	3	1	2	0	1	1	2	5	2			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr1:247921375T>C	ENST00000408896.2	-	1	607	c.334A>G	c.(334-336)Agc>Ggc	p.S112G		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGAAGGAGGCTGTCCATATTC	0.478													21	41					0	0	0	0	C	247921375	T	C	247921375	3	2	114	1	0	0	0	0	1	0	0	0	11023	1580	55	5	612	5	OR1C1	1	247921375	Missense_Mutation	SNP	T	TCGA-CN-A499-01A-11D-A24D-08	45206104	247921375	1329246	3	21724											
OTX1	5013	broad.mit.edu	37	chr2	63281299	63281299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgcgggaggaggtggCgctcaagatcaacctgccgg	8	7	15	11	3	3	1	3	0	0	1	3	3	3	3	2	5	3	1	2	5	2	1			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:63281299C>T	ENST00000282549.2	+	4	491	c.215C>T	c.(214-216)gCg>gTg	p.A72V	OTX1_ENST00000366671.3_Missense_Mutation_p.A72V	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	72						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GAGGAGGTGGCGCTCAAGATC	0.647													22	59					0	0	0	0	T	63281299	C	T	63281299	3	4	114	1	0	0	0	0	1	0	0	0	11391	768	27	1	221	1	OTX1	2	63281299	Missense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08		63281299	179918074	4	21725											
CEP68	23177	broad.mit.edu	37	chr2	65300090	65300090	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggaggagaacagggaaaAgaatcactggtgcaatgtgt	17	6	14	4	0	1	2	1	0	0	2	1	5	1	4	0	4	2	1	0	4	6	0			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:65300090A>G	ENST00000377990.2	+	3	2063	c.1860A>G	c.(1858-1860)aaA>aaG	p.K620K	CEP68_ENST00000546106.1_Silent_p.K620K|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_Silent_p.K232K|CEP68_ENST00000260569.4_Intron|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	620					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AACAGGGAAAAGAATCACTGG	0.488													33	56					0	0	0	0	G	65300090	A	G	65300090	2	3	114	1	0	0	0	0	0	0	0	1	3287	69	3	5		5	CEP68	2	65300090	Silent	SNP	A	TCGA-CN-A499-01A-11D-A24D-08	2018791	65300090	177899283	5	21726											
RANBP2	5903	broad.mit.edu	37	chr2	109379847	109379847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgttttgagtctcctgcaaCgggaattctatcgcccaggg	7	11	12	11	3	2	1	0	1	2	0	4	2	2	2	2	2	2	2	2	2	3	4			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:109379847C>T	ENST00000283195.6	+	20	2978	c.2852C>T	c.(2851-2853)aCg>aTg	p.T951M		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	951					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.T951M(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCTCCTGCAACGGGAATTCTA	0.463													19	46					0	0	0	0	T	109379847	C	T	109379847	3	4	114	1	0	0	0	0	1	0	0	0	13110	536	19	1	2930	1	RANBP2	2	109379847	Missense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08	44079757	109379847	133819526	6	21727											
UBR3	130507	broad.mit.edu	37	chr2	170936339	170936339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaggccttgcttatccaaGagtcaaaatggaaattacca	14	12	7	8	0	1	1	1	0	0	1	2	2	2	2	3	2	2	1	3	2	7	5			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:170936339G>A	ENST00000272793.5	+	37	5265	c.5215G>A	c.(5215-5217)Gag>Aag	p.E1739K	UBR3_ENST00000418381.1_Missense_Mutation_p.E1739K|UBR3_ENST00000392631.1_Missense_Mutation_p.E560K			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1739					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GCTTATCCAAGAGTCAAAATG	0.308													4	43					0	0	0	0	A	170936339	G	A	170936339	3	1	114	1	0	0	0	0	1	0	0	0	16999	943	33	2	5361	2	UBR3	2	170936339	Missense_Mutation	SNP	G	TCGA-CN-A499-01A-11D-A24D-08	61556492	170936339	72263034	7	21728											
GPR155	151556	broad.mit.edu	37	chr2	175335263	175335263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagttccaccatttctctgCacagaagtggcagcaccaga	12	8	9	12	0	1	3	0	0	1	3	3	3	2	3	3	1	2	4	3	1	1	2			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:175335263C>T	ENST00000392552.2	-	4	1119	c.881G>A	c.(880-882)tGc>tAc	p.C294Y	GPR155_ENST00000392551.2_Missense_Mutation_p.C294Y|GPR155_ENST00000295500.4_Missense_Mutation_p.C294Y	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	294					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CATTTCTCTGCACAGAAGTGG	0.433													3	40					0	0	0	0	T	175335263	C	T	175335263	3	4	114	1	0	0	0	0	1	0	0	0	6709	710	25	4	1783	4	GPR155	2	175335263	Missense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08	4398924	175335263	67864110	8	21729											
COL4A3	1285	broad.mit.edu	37	chr2	228149037	228149037	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agatatcccacgtaatagggGacaaaggagaaccaggtctc	15	6	11	9	1	1	2	0	0	1	2	3	4	2	3	2	4	1	1	2	4	5	3			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:228149037G>C	ENST00000396578.3	+	34	3019	c.2857G>C	c.(2857-2859)Gac>Cac	p.D953H	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	953	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CGTAATAGGGGACAAAGGAGA	0.468													4	16					0	0	0	0	C	228149037	G	C	228149037	3	2	114	1	0	0	0	0	1	0	0	0	3721	1174	41	2	2991	2	COL4A3	2	228149037	Missense_Mutation	SNP	G	TCGA-CN-A499-01A-11D-A24D-08	52813774	228149037	15050336	9	21730											
STAC	6769	broad.mit.edu	37	chr3	36527664	36527664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgtctacgagaccctcCgcttcggcacctccctggcc	5	8	8	20	3	1	1	0	0	1	1	4	2	3	1	6	2	1	2	6	2	1	2			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr3:36527664C>T	ENST00000273183.3	+	5	910	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	STAC_ENST00000457375.2_Missense_Mutation_p.R143C|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	204					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CGAGACCCTCCGCTTCGGCAC	0.557													52	158					0	0	0	0	T	36527664	C	T	36527664	3	4	114	1	0	0	0	0	1	0	0	0	15329	652	23	1	628	1	STAC	3	36527664	Missense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08		36527664	161494766	10	21731											
DGKG	1608	broad.mit.edu	37	chr3	186006592	186006592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggattccgagcttgaagAccgagggacggggggttcca	8	7	18	8	3	0	2	0	1	0	1	2	6	2	4	3	6	1	2	3	6	1	3			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr3:186006592A>G	ENST00000265022.3	-	6	990	c.451T>C	c.(451-453)Tct>Cct	p.S151P	DGKG_ENST00000544847.1_Missense_Mutation_p.S151P|DGKG_ENST00000344484.4_Missense_Mutation_p.S151P|DGKG_ENST00000382164.4_Missense_Mutation_p.S151P	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	151	Poly-Ser.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GAGCTTGAAGACCGAGGGACG	0.547													55	349					0	0	0	0	G	186006592	A	G	186006592	3	3	114	1	0	0	0	0	1	0	0	0	4506	275	10	5	2004	5	DGKG	3	186006592	Missense_Mutation	SNP	A	TCGA-CN-A499-01A-11D-A24D-08	149478928	186006592	12015838	11	21732											
SMR3A	26952	broad.mit.edu	37	chr4	71232575	71232575	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggtccagggagaattcAatcacactctcttcctcctc	9	12	6	14	0	3	1	2	0	1	1	8	2	6	1	3	2	0	0	3	2	3	3			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr4:71232575A>T	ENST00000226460.4	+	3	365	c.269A>T	c.(268-270)cAa>cTa	p.Q90L		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	90	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGGAGAATTCAATCACACTCT	0.537													42	89					0	0	0	0	T	71232575	A	T	71232575	3	4	114	1	0	0	0	0	1	0	0	0	14899	130	5	5	275	5	SMR3A	4	71232575	Missense_Mutation	SNP	A	TCGA-CN-A499-01A-11D-A24D-08		71232575	119921701	12	21733											
DNAH5	1767	broad.mit.edu	37	chr5	13751205	13751205	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcttctctgtgagaatGaccctccccagtaactgatc	9	11	7	14	0	1	3	0	3	1	1	4	4	2	3	4	0	2	2	4	0	2	2			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr5:13751205G>T	ENST00000265104.4	-	65	11297	c.11193C>A	c.(11191-11193)gtC>gtA	p.V3731V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3731	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGTGAGAATGACCCTCCCCA	0.443									Kartagener syndrome				12	30					2.68362e-12	2.87261e-12	1	0	T	13751205	G	T	13751205	2	4	114	1	0	0	0	0	0	0	0	1	4641	1277	45	2		2	DNAH5	5	13751205	Silent	SNP	G	TCGA-CN-A499-01A-11D-A24D-08		13751205	167164055	13	21734											
CDH10	1008	broad.mit.edu	37	chr5	24511440	24511440	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatggatgctgtgcacctttTtcacagtgatgatgccttcc	7	15	9	10	0	1	2	1	2	0	0	2	3	2	3	3	1	3	2	3	1	1	4			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr5:24511440T>C	ENST00000264463.4	-	6	1505	c.998A>G	c.(997-999)aAa>aGa	p.K333R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	333	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTGCACCTTTTTCACAGTGAT	0.393										HNSCC(23;0.051)			7	82					0	0	0	0	C	24511440	T	C	24511440	3	2	114	1	0	0	0	0	1	0	0	0	3125	1841	64	5	1396	5	CDH10	5	24511440	Missense_Mutation	SNP	T	TCGA-CN-A499-01A-11D-A24D-08	10760235	24511440	156403820	14	21735											
PCDHAC2	56134	broad.mit.edu	37	chr5	140348695	140348695	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcctcacttcattgaagttCgagggaatggctccctcacc	9	10	9	13	1	3	1	3	1	0	0	5	3	4	2	3	2	1	2	3	2	2	3			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr5:140348695C>T	ENST00000289269.5	+	1	2876	c.2344C>T	c.(2344-2346)Cga>Tga	p.R782*	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		782					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)			CATTGAAGTTCGAGGGAATGG	0.507													9	49					0	0	0	0	T	140348695	C	T	140348695	4	4	114	1	0	0	0	0	0	1	0	0	11604	876	31	1	2346	1	PCDHAC2	5	140348695	Nonsense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08	115837255	140348695	40566565	15	21736											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156678	26156680	+	In_Frame_Del	DEL	GAA	GAA	-																															cctgccgagaagactcccgtGaagaagaaggcccgcaagtc																										TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr6:26156678_26156680delGAA	ENST00000304218.3	+	1	120_122	c.60_62delGAA	c.(58-63)gtg>gt	p.VK20del		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	20					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AGACTCCCGTGAAGAAGAAGGCC	0.65													14	131	---	---	---	---					-	26156680	GAA	-	26156678	7	5	114	1	0	1	0	1	0	0	0	0	7176	1277	45	0	62	0	HIST1H1E	6	26156678	In_Frame_Del	DEL	GAA	TCGA-CN-A499-01A-11D-A24D-08		26156678	144958389	16	21737											
PKHD1	5314	broad.mit.edu	37	chr6	51890409	51890409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtatggtcccaccacatgccGaaccctgcgatgggaagatg	10	7	12	12	2	0	1	0	0	0	1	1	4	1	2	4	2	3	1	4	2	3	1			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr6:51890409G>A	ENST00000371117.3	-	32	4474	c.4199C>T	c.(4198-4200)tCg>tTg	p.S1400L	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1400L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1400	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.S1400L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCACATGCCGAACCCTGCGA	0.498													29	92					0	0	0	0	A	51890409	G	A	51890409	3	1	114	1	0	0	0	0	1	0	0	0	12043	1059	37	1	8208	1	PKHD1	6	51890409	Missense_Mutation	SNP	G	TCGA-CN-A499-01A-11D-A24D-08	25733731	51890409	119224658	17	21738											
KIAA0408	9729	broad.mit.edu	37	chr6	127768852	127768852	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtatattagttacattTggcatttcctggagaaaaga	13	14	10	4	0	0	3	0	1	0	2	1	4	1	3	1	3	1	3	1	3	6	6			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr6:127768852T>C	ENST00000483725.3	-	5	948	c.612A>G	c.(610-612)ccA>ccG	p.P204P	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	204							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TAGTTACATTTGGCATTTCCT	0.338													4	30					0	0	0	0	C	127768852	T	C	127768852	2	2	114	1	0	0	0	0	0	0	0	1	8225	1799	63	5		5	KIAA0408	6	127768852	Silent	SNP	T	TCGA-CN-A499-01A-11D-A24D-08	75878443	127768852	43346215	18	21739											
GRM3	2913	broad.mit.edu	37	chr7	86415688	86415688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgccaggaccgtgccccccGacttctaccaggccaaagcc	8	6	9	18	2	1	0	0	0	1	0	1	2	1	1	8	2	4	0	8	2	2	3			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr7:86415688G>A	ENST00000361669.2	+	3	1679	c.580G>A	c.(580-582)Gac>Aac	p.D194N	GRM3_ENST00000394720.2_Missense_Mutation_p.D192N|GRM3_ENST00000439827.1_Missense_Mutation_p.D194N|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.D66N|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	194					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CGTGCCCCCCGACTTCTACCA	0.567													33	87					0	0	0	0	A	86415688	G	A	86415688	3	1	114	1	0	0	0	0	1	0	0	0	6848	1058	37	1	586	1	GRM3	7	86415688	Missense_Mutation	SNP	G	TCGA-CN-A499-01A-11D-A24D-08		86415688	72722975	19	21740											
PTPRD	5789	broad.mit.edu	37	chr9	8501020	8501020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaatactagtggaacttGggctggtgcaactaatgtct	12	11	10	8	0	1	0	0	0	1	0	1	1	1	1	1	3	4	2	1	3	7	4			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr9:8501020G>T	ENST00000381196.4	-	21	2405	c.1862C>A	c.(1861-1863)cCa>cAa	p.P621Q	PTPRD_ENST00000540109.1_Missense_Mutation_p.P621Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.P608Q|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.P608Q|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.P621Q|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	621	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTGGAACTTGGGCTGGTGCA	0.433										TSP Lung(15;0.13)			17	52					1.99824e-07	2.10925e-07	1	0	T	8501020	G	T	8501020	3	4	114	1	0	0	0	0	1	0	0	0	12881	1348	47	4	4036	4	PTPRD	9	8501020	Missense_Mutation	SNP	G	TCGA-CN-A499-01A-11D-A24D-08		8501020	132712411	20	21741											
ASTN2	23245	broad.mit.edu	37	chr9	119770528	119770528	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagctcccttcactcaccacGaagctgcttcctatgggtga	8	11	8	14	1	2	1	2	1	0	0	4	2	4	1	3	1	3	3	3	1	3	4			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr9:119770528G>A	ENST00000313400.4	-	7	1534	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	ASTN2_ENST00000373996.3_Silent_p.F478F|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.F427F			O75129	ASTN2_HUMAN	astrotactin 2	478						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CACTCACCACGAAGCTGCTTC	0.502													18	47					0	0	0	0	A	119770528	G	A	119770528	2	1	114	1	0	0	0	0	0	0	0	1	1069	1049	37	1		1	ASTN2	9	119770528	Silent	SNP	G	TCGA-CN-A499-01A-11D-A24D-08	111269508	119770528	21442903	21	21742											
PRKG1	5592	broad.mit.edu	37	chr10	54031235	54031235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgcagggggctcattcCgatttcatagtgaggtaaag	11	11	12	7	1	3	1	3	1	0	0	4	2	4	1	1	3	1	3	1	3	3	4	rs145035655	byFrequency	TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr10:54031235C>T	ENST00000373980.4	+	11	1716	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Silent_p.S136S|PRKG1_ENST00000401604.2_Silent_p.S418S|PRKG1_ENST00000373985.1_Silent_p.S406S|PRKG1-AS1_ENST00000452247.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	418	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GGGCTCATTCCGATTTCATAG	0.488													17	28					0	0	0	0	T	54031235	C	T	54031235	2	4	114	1	0	0	0	0	0	0	0	1	12602	639	23	1		1	PRKG1	10	54031235	Silent	SNP	C	TCGA-CN-A499-01A-11D-A24D-08		54031235	81503512	22	21743											
PTEN	5728	broad.mit.edu	37	chr10	89653856	89653857	+	Frame_Shift_Ins	INS	-	-	A																															atacaggaacaatattgatgINSatgtagtaaggtaagaatgc																										TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr10:89653856_89653857insA	ENST00000371953.3	+	2	1511_1512	c.154_155insA	c.(154-156)tgtfs	p.C52fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	52	Phosphatase tensin-type.				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 cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|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|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain 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.?(8)|p.Y27fs*1(2)|p.D52del(2)|p.D52N(1)|p.D52G(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)		CAATATTGATGATGTAGTAAGG	0.297		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)			8	7	---	---	---	---					A	89653857	-	A	89653856	7	5	114	1	0	1	1	0	0	0	0	0	12817	1290	45	0	160	0	PTEN	10	89653856	Frame_Shift_Ins	INS	-	TCGA-CN-A499-01A-11D-A24D-08	35622621	89653856	45880891	23	21744											
ABCC8	6833	broad.mit.edu	37	chr11	17432096	17432096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcaggtactgtagcttgtgGgtcactaagaccactgtcct	8	11	12	10	0	1	1	1	0	0	1	2	1	2	1	2	3	2	4	2	3	3	4			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr11:17432096G>A	ENST00000302539.4	-	22	2789	c.2664C>T	c.(2662-2664)acC>acT	p.T888T	ABCC8_ENST00000389817.3_Silent_p.T887T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	887	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GTAGCTTGTGGGTCACTAAGA	0.592													5	100					0	0	0	0	A	17432096	G	A	17432096	2	1	114	1	0	0	0	0	0	0	0	1	58	1219	43	4		4	ABCC8	11	17432096	Silent	SNP	G	TCGA-CN-A499-01A-11D-A24D-08		17432096	117574420	24	21745											
OR8H3	390152	broad.mit.edu	37	chr11	55890275	55890275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaaaaggctctgcctcGctctcatcactgggccttat	7	11	8	15	1	3	0	2	0	2	0	5	0	3	0	3	2	2	2	3	2	3	1			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr11:55890275G>A	ENST00000313472.3	+	1	427	c.427G>A	c.(427-429)Gct>Act	p.A143T		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A143T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCTCTGCCTCGCTCTCATCAC	0.443													40	126					0	0	0	0	A	55890275	G	A	55890275	3	1	114	1	0	0	0	0	1	0	0	0	11310	1087	38	1	429	1	OR8H3	11	55890275	Missense_Mutation	SNP	G	TCGA-CN-A499-01A-11D-A24D-08	38458179	55890275	79116241	25	21746											
CPSF7	79869	broad.mit.edu	37	chr11	61183827	61183827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggggtggaattggtggtgGgggcagacccatcaggggaa	8	7	21	5	0	1	1	1	0	0	1	1	3	1	3	1	9	0	1	1	9	2	1			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr11:61183827G>A	ENST00000340437.4	-	6	924	c.844C>T	c.(844-846)Cca>Tca	p.P282S	CPSF7_ENST00000394888.4_Missense_Mutation_p.P239S|CPSF7_ENST00000439958.3_Missense_Mutation_p.P230S|CPSF7_ENST00000448745.1_Missense_Mutation_p.P230S	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	239	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						ATTGGTGGTGGGGGCAGACCC	0.602													31	72					0	0	0	0	A	61183827	G	A	61183827	3	1	114	1	0	0	0	0	1	0	0	0	3860	1232	43	4	716	4	CPSF7	11	61183827	Missense_Mutation	SNP	G	TCGA-CN-A499-01A-11D-A24D-08	5293552	61183827	73822689	26	21747											
KDM2A	22992	broad.mit.edu	37	chr11	67021746	67021746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgacatcacagatgccaCgcttcgcctcataattcgcc	9	10	6	16	3	2	2	2	1	0	1	4	2	2	2	4	0	1	1	4	0	1	4			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr11:67021746C>T	ENST00000529006.2	+	20	3610	c.3164C>T	c.(3163-3165)aCg>aTg	p.T1055M	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.T616M|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.T513M	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1055					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACAGATGCCACGCTTCGCCTC	0.557													23	53					0	0	0	0	T	67021746	C	T	67021746	3	4	114	1	0	0	0	0	1	0	0	0	8177	536	19	1	3238	1	KDM2A	11	67021746	Missense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08	5837919	67021746	67984770	27	21748											
KCNC2	3747	broad.mit.edu	37	chr12	75436120	75436120	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagatctggcctcggcttgCgtgtaaccagtaatgacaac	11	9	11	10	2	1	2	0	1	1	1	2	3	1	2	2	2	3	3	2	2	3	3			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr12:75436120C>T	ENST00000298972.1	-	5	2358	c.1815G>A	c.(1813-1815)acG>acA	p.T605T	KCNC2_ENST00000549446.1_3'UTR|KCNC2_ENST00000548513.1_Silent_p.T605T|KCNC2_ENST00000341669.3_Intron|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000350228.2_Silent_p.T550T|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000550433.1_Intron	NM_139136.3	NP_631874.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	0					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CCTCGGCTTGCGTGTAACCAG	0.418													12	26					0	0	0	0	T	75436120	C	T	75436120	2	4	114	1	0	0	0	0	0	0	0	1	8068	755	27	1		1	KCNC2	12	75436120	Silent	SNP	C	TCGA-CN-A499-01A-11D-A24D-08		75436120	58415775	28	21749											
OAS3	4940	broad.mit.edu	37	chr12	113388755	113388755	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagagctggacggatgttagCctgctgcctgccttcgatgc	7	10	13	11	2	0	1	0	0	0	1	1	4	0	3	3	2	6	3	3	2	2	2			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr12:113388755C>G	ENST00000228928.7	+	7	1811	c.1632C>G	c.(1630-1632)agC>agG	p.S544R	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	544	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CGGATGTTAGCCTGCTGCCTG	0.617													4	52					0	0	0	0	G	113388755	C	G	113388755	3	3	114	1	0	0	0	0	1	0	0	0	10872	738	26	4	1658	4	OAS3	12	113388755	Missense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08	37952635	113388755	20463140	29	21750											
RB1	5925	broad.mit.edu	37	chr13	48941648	48941648	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttgaaaatctttctaaaCgatacgaagaaatttatctt	16	14	6	5	2	3	2	0	1	3	1	3	4	3	2	0	1	2	1	0	1	8	7	rs121913300		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr13:48941648C>T	ENST00000267163.4	+	10	1096	c.958C>T	c.(958-960)Cga>Tga	p.R320*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	320					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.R320*(11)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTTCTAAACGATACGAAGA	0.313	R320*(GMS10_CENTRAL_NERVOUS_SYSTEM)|R320*(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			6	21					0	0	0	0	T	48941648	C	T	48941648	4	4	114	1	0	0	0	0	0	1	0	0	13180	528	19	1	996	1	RB1	13	48941648	Nonsense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08		48941648	66228230	30	21751											
NGDN	25983	broad.mit.edu	37	chr14	23944385	23944385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgttcaactcagggtctCagcttcttggaagtgaaaga	10	14	10	7	0	4	2	3	1	2	1	5	3	4	3	0	2	2	2	0	2	3	5			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr14:23944385C>T	ENST00000397154.3	+	4	163	c.150C>T	c.(148-150)ctC>ctT	p.L50L	NGDN_ENST00000408901.3_Silent_p.L50L			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	50	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTCAGGGTCTCAGCTTCTTGG	0.443													36	34					0	0	0	0	T	23944385	C	T	23944385	2	4	114	1	0	0	0	0	0	0	0	1	10463	813	29	2		2	NGDN	14	23944385	Silent	SNP	C	TCGA-CN-A499-01A-11D-A24D-08		23944385	83405155	31	21752											
PLA2G4F	255189	broad.mit.edu	37	chr15	42442617	42442619	+	In_Frame_Del	DEL	GAG	GAG	-																															cctcctggcctaggggcagaGaggagagcaggatgcccccc																										TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr15:42442617_42442619delGAG	ENST00000397272.3	-	9	928_930	c.837_839delCTC	c.(835-840)tct>tc	p.SS279del	PLA2G4F_ENST00000382396.4_In_Frame_Del_p.SS279del	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	279					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TAGGGGCAGAGAGGAGAGCAGGA	0.626													9	20	---	---	---	---					-	42442619	GAG	-	42442617	7	5	114	1	0	1	0	1	0	0	0	0	12078	942	33	0	1758	0	PLA2G4F	15	42442617	In_Frame_Del	DEL	GAG	TCGA-CN-A499-01A-11D-A24D-08		42442617	60088775	32	21753											
ADCY9	115	broad.mit.edu	37	chr16	4016050	4016050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccatccacctggacgCggatgtctggggagatggac	7	8	15	11	2	1	1	0	0	1	1	2	5	2	4	3	5	2	1	3	5	0	0			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr16:4016050C>T	ENST00000294016.3	-	11	4326	c.3788G>A	c.(3787-3789)cGc>cAc	p.R1263H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1263				QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CACCTGGACGCGGATGTCTGG	0.562													15	51					0	0	0	0	T	4016050	C	T	4016050	3	4	114	1	0	0	0	0	1	0	0	0	301	768	27	1	277	1	ADCY9	16	4016050	Missense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08		4016050	86338703	33	21754											
ABAT	18	broad.mit.edu	37	chr16	8829602	8829602	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctcaaggggtcatggcCtccatgttgctcgcccagcg	5	9	12	15	2	2	0	2	0	0	0	5	0	4	0	4	3	2	2	4	3	1	1			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr16:8829602C>T	ENST00000396600.2	+	2	944	c.6C>T	c.(4-6)gcC>gcT	p.A2A	ABAT_ENST00000268251.8_Silent_p.A2A|ABAT_ENST00000567812.1_Silent_p.A17A|ABAT_ENST00000425191.2_Silent_p.A2A|ABAT_ENST00000569156.1_Silent_p.A2A	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	2					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGGTCATGGCCTCCATGTTGC	0.592													3	12					0	0	0	0	T	8829602	C	T	8829602	2	4	114	1	0	0	0	0	0	0	0	1	27	668	24	4		4	ABAT	16	8829602	Silent	SNP	C	TCGA-CN-A499-01A-11D-A24D-08	4813552	8829602	81525151	34	21755											
MYH2	4620	broad.mit.edu	37	chr17	10426662	10426662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcactcgcctctcatgtttgCgcagacctttgacagcctca	7	12	7	15	2	3	2	3	1	1	1	5	2	3	2	3	0	2	2	3	0	0	2			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:10426662C>T	ENST00000245503.5	-	38	5924	c.5540G>A	c.(5539-5541)cGc>cAc	p.R1847H	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1847H	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1847					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCATGTTTGCGCAGACCTTT	0.463													24	97					0	0	0	0	T	10426662	C	T	10426662	3	4	114	1	0	0	0	0	1	0	0	0	10105	768	27	1	297	1	MYH2	17	10426662	Missense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08		10426662	70768548	35	21756											
ALKBH5	54890	broad.mit.edu	37	chr17	18098327	18098327	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggacatcaaggagcgcCgagcagtcatcatcctcagg	11	6	11	13	2	5	0	5	0	0	0	6	3	6	2	2	3	2	1	2	3	1	0			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:18098327C>T	ENST00000399138.4	+	2	834	c.829C>T	c.(829-831)Cga>Tga	p.R277*	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	277						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CAAGGAGCGCCGAGCAGTCAT	0.502													8	27					0	0	0	0	T	18098327	C	T	18098327	4	4	114	1	0	0	0	0	0	1	0	0	530	644	23	1	835	1	ALKBH5	17	18098327	Nonsense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08	7671665	18098327	63096883	36	21757											
KRT15	3866	broad.mit.edu	37	chr17	39672397	39672399	+	In_Frame_Del	DEL	CCG	CCG	-																															gacatcccggcggttcttctCcgccatggcctcgtactgct																								rs145001788		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:39672397_39672399delCCG	ENST00000254043.3	-	4	4442_4444	c.857_859delCGG	c.(856-861)gag>g	p.AE286del	KRT15_ENST00000393974.3_In_Frame_Del_p.AE121del|KRT15_ENST00000393976.2_In_Frame_Del_p.AE286del|KRT15_ENST00000393981.3_In_Frame_Del_p.AE121del	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	286	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CGGTTCTTCTCCGCCATGGCCTC	0.645													81	189	---	---	---	---					-	39672399	CCG	-	39672397	7	5	114	1	0	1	0	1	0	0	0	0	8504	864	30	0	531	0	KRT15	17	39672397	In_Frame_Del	DEL	CCG	TCGA-CN-A499-01A-11D-A24D-08	21574070	39672397	41522813	37	21758											
TOM1L1	10040	broad.mit.edu	37	chr17	52993152	52993152	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatggtgaaaatgaatgtgCgagtgatgtccgccatattg	12	12	12	5	2	0	3	0	3	0	0	1	4	1	3	2	1	1	0	2	1	5	3			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:52993152C>T	ENST00000575882.1	+	7	1002	c.649C>T	c.(649-651)Cga>Tga	p.R217*	TOM1L1_ENST00000572405.1_Nonsense_Mutation_p.R182*|TOM1L1_ENST00000572158.1_Nonsense_Mutation_p.R210*|TOM1L1_ENST00000540336.1_Nonsense_Mutation_p.R105*|TOM1L1_ENST00000348161.4_Nonsense_Mutation_p.R140*|TOM1L1_ENST00000445275.2_Nonsense_Mutation_p.R217*|TOM1L1_ENST00000570371.1_Nonsense_Mutation_p.R217*|TOM1L1_ENST00000536554.1_Nonsense_Mutation_p.R140*|TOM1L1_ENST00000575333.1_Nonsense_Mutation_p.R217*	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	217	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						AATGAATGTGCGAGTGATGTC	0.433													5	117					0	0	0	0	T	52993152	C	T	52993152	4	4	114	1	0	0	0	0	0	1	0	0	16446	760	27	1	675	1	TOM1L1	17	52993152	Nonsense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08	13320755	52993152	28202058	38	21759											
RBBP8	5932	broad.mit.edu	37	chr18	20573147	20573147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaggaagaaaactgaggaaGaaagtgaacatgaagtaagc	22	4	12	3	0	0	5	0	3	0	2	0	7	0	7	0	2	3	1	0	2	9	1			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr18:20573147G>C	ENST00000399722.2	+	11	1708	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q	RBBP8_ENST00000399725.2_Missense_Mutation_p.E453Q|RBBP8_ENST00000327155.5_Missense_Mutation_p.E453Q|RBBP8_ENST00000360790.5_Missense_Mutation_p.E453Q	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	453					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AACTGAGGAAGAAAGTGAACA	0.403								Homologous recombination					12	24					0	0	0	0	C	20573147	G	C	20573147	3	2	114	1	0	0	0	0	1	0	0	0	13187	943	33	2	1395	2	RBBP8	18	20573147	Missense_Mutation	SNP	G	TCGA-CN-A499-01A-11D-A24D-08		20573147	57504101	39	21760											
PLIN5	440503	broad.mit.edu	37	chr19	4525830	4525830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacttcagggccttcagcctCagccgccagtgccgctggag	6	7	12	16	2	3	0	3	0	0	0	3	1	3	1	5	2	3	1	5	2	0	2			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:4525830C>T	ENST00000381848.3	-	6	615	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	179						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCTTCAGCCTCAGCCGCCAGT	0.657													3	25					0	0	0	0	T	4525830	C	T	4525830	3	4	114	1	0	0	0	0	1	0	0	0	12165	835	29	2	868	2	PLIN5	19	4525830	Missense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08		4525830	54603153	40	21761											
STXBP2	6813	broad.mit.edu	37	chr19	7709617	7709617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagatccgggtcctgctgCtctacatcctccttcggaat	8	11	8	14	2	1	1	0	0	1	1	6	2	5	2	4	2	3	2	4	2	3	2			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:7709617C>T	ENST00000441779.2	+	14	1295	c.1258C>T	c.(1258-1260)Ctc>Ttc	p.L420F	STXBP2_ENST00000414284.2_Missense_Mutation_p.L406F|STXBP2_ENST00000221283.5_Missense_Mutation_p.L409F	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	409					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGTCCTGCTGCTCTACATCCT	0.622													11	46					0	0	0	0	T	7709617	C	T	7709617	3	4	114	1	0	0	0	0	1	0	0	0	15443	797	28	4	1279	4	STXBP2	19	7709617	Missense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08	3183787	7709617	51419366	41	21762			1	29		2	2	13	C		1.82188e-05
STXBP2	6813	broad.mit.edu	37	chr19	7709629	7709629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgctctacatcctcCttcggaatggtgggtggggg	4	12	14	11	1	1	0	0	0	1	0	5	1	4	1	3	5	3	2	3	5	2	2			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:7709629C>T	ENST00000441779.2	+	14	1307	c.1270C>T	c.(1270-1272)Ctt>Ttt	p.L424F	STXBP2_ENST00000414284.2_Missense_Mutation_p.L410F|STXBP2_ENST00000221283.5_Missense_Mutation_p.L413F	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	413					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTACATCCTCCTTCGGAATGG	0.617													10	45					0	0	0	0	T	7709629	C	T	7709629	3	4	114	1	0	0	0	0	1	0	0	0	15443	681	24	4	1291	4	STXBP2	19	7709629	Missense_Mutation	SNP	C	TCGA-CN-A499-01A-11D-A24D-08	12	7709629	51419354	42	21763			1	29		2	2	13	C		1.82188e-05
FXYD3	5349	broad.mit.edu	37	chr19	35613736	35613736	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgccatgggcatcatcatCgtcatgagtgagtggaggag	9	9	15	8	2	3	2	3	2	0	0	4	4	3	4	1	3	1	1	1	3	0	0			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:35613736C>T	ENST00000435734.2	+	7	424	c.165C>T	c.(163-165)atC>atT	p.I55I	FXYD3_ENST00000406988.1_Silent_p.I55I|FXYD3_ENST00000605677.1_Silent_p.I55I|FXYD3_ENST00000603524.1_Silent_p.I84I|FXYD3_ENST00000535103.1_Silent_p.I112I|FXYD3_ENST00000603181.1_Silent_p.I55I|FXYD3_ENST00000344013.6_Silent_p.I55I|FXYD3_ENST00000604621.1_Silent_p.I55I|FXYD3_ENST00000604255.1_Silent_p.I112I|FXYD3_ENST00000604804.1_Silent_p.I84I|FXYD3_ENST00000406242.3_Silent_p.I55I|FXYD3_ENST00000346446.5_Silent_p.I55I|FXYD3_ENST00000604404.1_Silent_p.I55I|FXYD3_ENST00000605550.1_Silent_p.I55I	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	55						chloride channel complex|integral to plasma membrane	chloride channel activity			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCATCATCATCGTCATGAGTG	0.637													5	121					0	0	0	0	T	35613736	C	T	35613736	2	4	114	1	0	0	0	0	0	0	0	1	6167	874	31	1		1	FXYD3	19	35613736	Silent	SNP	C	TCGA-CN-A499-01A-11D-A24D-08	27904107	35613736	23515247	43	21764											
CEACAM6	4680	broad.mit.edu	37	chr19	42260787	42260787	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatccagaacgtcacccagaAtgacacaggattctataccc	14	7	7	13	1	2	3	1	1	1	2	3	5	3	4	3	1	2	0	3	1	4	3			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:42260787A>G	ENST00000199764.6	+	2	562	c.344A>G	c.(343-345)aAt>aGt	p.N115S	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	115	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GTCACCCAGAATGACACAGGA	0.463													19	315					0	0	0	0	G	42260787	A	G	42260787	3	3	114	1	0	0	0	0	1	0	0	0	3225	101	4	5	350	5	CEACAM6	19	42260787	Missense_Mutation	SNP	A	TCGA-CN-A499-01A-11D-A24D-08	6647051	42260787	16868196	44	21765											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	16	7	12	6	1	0	2	0	1	0	1	1	3	0	2	0	3	3	4	0	3	6	2			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383													5	121					0	0	0	0	T	11058322	C	T	11058322	1	4	114	0	1	0	0	0	0	0	0	0	1296	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-CN-A499-01A-11D-A24D-08		11058322	37071573	45	21766											
ZC4H2	55906	broad.mit.edu	37	chrX	64196279	64196279	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcactgtcaatttcacGtcccgagagatgtacaaata	12	13	6	10	2	3	1	3	0	0	1	4	3	4	1	1	0	1	1	1	0	4	5			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chrX:64196279G>A	ENST00000374839.3	-	0	85				ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Intron|ZC4H2_ENST00000447788.2_De_novo_Start_OutOfFrame|ZC4H2_ENST00000545618.1_De_novo_Start_InFrame	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing								metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCAATTTCACGTCCCGAGAGA	0.498													15	111					0	0	0	0	A	64196279	G	A	64196279	1	1	114	1	0	0	0	0	0	0	0	0	17673	1160	40	1		1	ZC4H2	23	64196279	Translation_Start_Site	SNP	G	TCGA-CN-A499-01A-11D-A24D-08		64196279	91074281	46	21767											
BCORL1	63035	broad.mit.edu	37	chrX	129190058	129190058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggtgcggtacgagccaGacctacttcggctcctaggg	7	8	14	12	3	0	1	0	0	0	1	2	2	1	1	3	4	5	3	3	4	3	4			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chrX:129190058G>A	ENST00000540052.1	+	12	5127	c.5083G>A	c.(5083-5085)Gac>Aac	p.D1695N	BCORL1_ENST00000303743.5_Missense_Mutation_p.D1769N|BCORL1_ENST00000359304.2_Missense_Mutation_p.D1565N|BCORL1_ENST00000218147.7_Missense_Mutation_p.D1695N	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1695					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GTACGAGCCAGACCTACTTCG	0.607													8	57					0	0	0	0	A	129190058	G	A	129190058	3	1	114	1	0	0	0	0	1	0	0	0	1391	942	33	2	5355	2	BCORL1	23	129190058	Missense_Mutation	SNP	G	TCGA-CN-A499-01A-11D-A24D-08	64993779	129190058	26080502	47	21768											
PIK3CD	5293	broad.mit.edu	37	chr1	9778767	9778767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagctggtggtgcaggccGggcttttccacggcaacgag	7	8	15	11	3	0	0	0	0	0	0	1	1	1	0	2	5	4	4	2	5	2	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:9778767G>A	ENST00000536656.1	+	9	1139	c.931G>A	c.(931-933)Ggg>Agg	p.G311R	PIK3CD_ENST00000361110.2_Missense_Mutation_p.G311R|PIK3CD_ENST00000377346.4_Missense_Mutation_p.G346R|PIK3CD_ENST00000543390.1_Missense_Mutation_p.G13R			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	346					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GGTGCAGGCCGGGCTTTTCCA	0.637													16	32					0	0	0	0	A	9778767	G	A	9778767	3	1	115	1	0	0	0	0	1	0	0	0	11987	1116	39	1	1062	1	PIK3CD	1	9778767	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08		9778767	239471854	1	21769											
AHDC1	27245	broad.mit.edu	37	chr1	27876247	27876247	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcccgggcctcggtcccctGaaacccacagtttcggccag	6	6	12	17	3	0	1	0	1	0	0	3	1	1	1	6	4	1	1	6	4	1	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:27876247G>A	ENST00000374011.2	-	6	3348	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*	AHDC1_ENST00000247087.5_Nonsense_Mutation_p.Q794*|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	794	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCGGTCCCCTGAAACCCACAG	0.677													19	69					0	0	0	0	A	27876247	G	A	27876247	4	1	115	1	0	0	0	0	0	1	0	0	412	1299	45	2	2435	2	AHDC1	1	27876247	Nonsense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	18097480	27876247	221374374	2	21770											
RBBP4	5928	broad.mit.edu	37	chr1	33145259	33145259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcagagaacatttataatGatgaagaccctgaaggaagc	17	7	11	6	0	0	5	0	3	0	2	0	7	0	6	1	2	2	1	1	2	6	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:33145259G>A	ENST00000373493.5	+	12	1390	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	RBBP4_ENST00000544435.1_Missense_Mutation_p.D159N|RBBP4_ENST00000458695.2_Missense_Mutation_p.D376N|RBBP4_ENST00000414241.3_Missense_Mutation_p.D410N|RBBP4_ENST00000373485.1_Intron	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	411					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CATTTATAATGATGAAGACCC	0.393													15	27					0	0	0	0	A	33145259	G	A	33145259	3	1	115	1	0	0	0	0	1	0	0	0	13183	1290	45	2	1277	2	RBBP4	1	33145259	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	5269012	33145259	216105362	3	21771											
ZMYM4	9202	broad.mit.edu	37	chr1	35863113	35863113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatggcagaaatgattgcaGaagatgaagagaagaagact	19	6	13	3	0	0	9	0	2	0	7	0	10	0	9	0	1	1	2	0	1	5	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:35863113G>C	ENST00000314607.6	+	20	3246	c.3166G>C	c.(3166-3168)Gaa>Caa	p.E1056Q	ZMYM4_ENST00000373297.2_Missense_Mutation_p.E967Q	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1056					multicellular organismal development		DNA binding|zinc ion binding	p.E1056*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATGATTGCAGAAGATGAAGA	0.363													7	22					0	0	0	0	C	35863113	G	C	35863113	3	2	115	1	0	0	0	0	1	0	0	0	17797	943	33	2	3244	2	ZMYM4	1	35863113	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	2717854	35863113	213387508	4	21772											
BMP8B	656	broad.mit.edu	37	chr1	40230531	40230531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcactcacgggcagtggcCctgcagcagacacagcagcg	9	4	14	14	2	2	1	2	0	0	1	2	1	2	1	1	3	4	4	1	3	0	0	rs115705483	by1000genomes	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:40230531C>T	ENST00000397360.2	-	4	1186	c.823G>A	c.(823-825)Ggc>Agc	p.G275S	BMP8B_ENST00000372827.3_Intron			P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	251					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGCAGTGGCCCTGCAGCAGA	0.677													5	43					0	0	0	0	T	40230531	C	T	40230531	3	4	115	1	0	0	0	0	1	0	0	0	1472	638	22	4		4	BMP8B	1	40230531	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	4367418	40230531	209020090	5	21773											
HPDL	84842	broad.mit.edu	37	chr1	45793531	45793531	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgagtcccttccgggggcGacgacacgacaggaccaggt	8	5	15	13	4	0	1	0	1	0	0	2	5	2	2	3	4	0	1	3	4	0	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:45793531G>A	ENST00000334815.3	+	1	987	c.711G>A	c.(709-711)gcG>gcA	p.A237A		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	237					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTCCGGGGGCGACGACACGAC	0.652													37	71					0	0	0	0	A	45793531	G	A	45793531	2	1	115	1	0	0	0	0	0	0	0	1	7383	1045	37	1		1	HPDL	1	45793531	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	5563000	45793531	203457090	6	21774											
ACOT11	26027	broad.mit.edu	37	chr1	55072843	55072843	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggtagacgaggacgaCgccatctaccacgtcaccag	12	4	11	14	4	2	1	1	0	1	1	2	4	2	2	3	2	2	2	3	2	2	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:55072843C>T	ENST00000371316.3	+	14	1489	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D	ACOT11_ENST00000343744.2_Silent_p.D469D|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	469	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						ACGAGGACGACGCCATCTACC	0.632													5	19					0	0	0	0	T	55072843	C	T	55072843	2	4	115	1	0	0	0	0	0	0	0	1	149	535	19	1		1	ACOT11	1	55072843	Silent	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	9279312	55072843	194177778	7	21775											
GBP7	388646	broad.mit.edu	37	chr1	89616098	89616098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaattttctgattgcatCtggaaattactatccagttg	12	15	7	7	0	2	2	0	1	2	1	3	3	3	3	1	1	2	2	1	1	4	6			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:89616098C>T	ENST00000294671.2	-	6	924	c.786G>A	c.(784-786)caG>caA	p.Q262Q		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	262						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTGATTGCATCTGGAAATTAC	0.408													22	44					0	0	0	0	T	89616098	C	T	89616098	2	4	115	1	0	0	0	0	0	0	0	1	6328	912	32	2		2	GBP7	1	89616098	Silent	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	34543255	89616098	159634523	8	21776											
HSD3B2	3284	broad.mit.edu	37	chr1	119964777	119964777	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaagtgttggaaagttctCtacagtcaacccagtctatg	11	12	9	9	0	4	0	2	0	2	0	5	1	4	1	1	1	2	2	1	1	5	4			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:119964777C>G	ENST00000543831.1	+	4	902	c.653C>G	c.(652-654)tCt>tGt	p.S218C	HSD3B2_ENST00000369416.3_Missense_Mutation_p.S218C	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	218					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GGAAAGTTCTCTACAGTCAAC	0.532													27	64					0	0	0	0	G	119964777	C	G	119964777	3	3	115	1	0	0	0	0	1	0	0	0	7441	913	32	2	663	2	HSD3B2	1	119964777	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	30348679	119964777	129285844	9	21777											
PDE4DIP	9659	broad.mit.edu	37	chr1	144886198	144886198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctaagtgctggtggaaCtcagccctcaggtggagcat	8	11	12	10	0	4	0	2	0	2	0	4	2	4	2	1	4	4	2	1	4	2	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:144886198C>T	ENST00000369359.4	-	26	3485	c.3447G>A	c.(3445-3447)gaG>gaA	p.E1149E	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.E1149E|PDE4DIP_ENST00000369354.3_Silent_p.E1012E|PDE4DIP_ENST00000369356.4_Silent_p.E1012E|PDE4DIP_ENST00000313382.9_Silent_p.E1078E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1012					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGGTGGAACTCAGCCCTCA	0.512			T	PDGFRB	MPD								26	196					0	0	0	0	T	144886198	C	T	144886198	2	4	115	1	0	0	0	0	0	0	0	1	11714	564	20	4		4	PDE4DIP	1	144886198	Silent	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	24921421	144886198	104364423	10	21778											
FLG	2312	broad.mit.edu	37	chr1	152277107	152277107	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgcctggagctgtctcGtgcctgctcgtggtgggatc	3	12	16	10	2	1	1	0	1	1	0	4	3	1	3	2	3	4	2	2	3	0	0	rs143418984		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:152277107G>A	ENST00000368799.1	-	3	10290	c.10255C>T	c.(10255-10257)Cga>Tga	p.R3419*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3419	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTCTCGTGCCTGCTCG	0.597									Ichthyosis				14	369					0	0	0	0	A	152277107	G	A	152277107	4	1	115	1	0	0	0	0	0	1	0	0	5967	1153	40	1	1934	1	FLG	1	152277107	Nonsense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	7390909	152277107	96973514	11	21779			1	30		3	3	1731	N	G_C	2.829998e-05
FLG	2312	broad.mit.edu	37	chr1	152277865	152277865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgattgttcctcattaCgtgttgttctgcttgcactt	4	19	7	11	1	2	1	1	1	1	0	4	1	4	1	2	0	3	5	2	0	1	7	rs145566935		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:152277865C>T	ENST00000368799.1	-	3	9532	c.9497G>A	c.(9496-9498)cGt>cAt	p.R3166H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3166	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTACGTGTTGTTCT	0.552									Ichthyosis				29	363					0	0	0	0	T	152277865	C	T	152277865	3	4	115	1	0	0	0	0	1	0	0	0	5967	536	19	1	2692	1	FLG	1	152277865	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	758	152277865	96972756	12	21780			1	30		3	3	1731	N	G_C	2.829998e-05
FLG	2312	broad.mit.edu	37	chr1	152278837	152278837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgattgttcctcattaCgtgttgttctgcttgcactt	4	19	7	11	1	2	1	1	1	1	0	4	1	4	1	2	0	3	5	2	0	1	7			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:152278837C>T	ENST00000368799.1	-	3	8560	c.8525G>A	c.(8524-8526)cGt>cAt	p.R2842H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2842	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTACGTGTTGTTCT	0.567									Ichthyosis				71	833					0	0	0	0	T	152278837	C	T	152278837	3	4	115	1	0	0	0	0	1	0	0	0	5967	536	19	1	3664	1	FLG	1	152278837	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	972	152278837	96971784	13	21781			1	30		3	3	1731	N	G_C	2.829998e-05
GON4L	54856	broad.mit.edu	37	chr1	155723033	155723033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttctggtggtcctgacaGtcctgctctgggtggcctca	3	13	12	13	0	3	1	1	1	2	0	5	1	5	1	4	4	1	1	4	4	0	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:155723033G>T	ENST00000437809.1	-	29	5926	c.5804C>A	c.(5803-5805)aCt>aAt	p.T1935N	GON4L_ENST00000368331.1_Missense_Mutation_p.T1935N|GON4L_ENST00000271883.5_Missense_Mutation_p.T1935N			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1935					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGTCCTGACAGTCCTGCTCTG	0.562													11	75					0.00010058	0.000105609	1	0	T	155723033	G	T	155723033	3	4	115	1	0	0	0	0	1	0	0	0	6620	1029	36	4	934	4	GON4L	1	155723033	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	3444196	155723033	93527588	14	21782											
SPTA1	6708	broad.mit.edu	37	chr1	158618302	158618302	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaggacttgtctcaccttAtctcccaggggtacgaggtc	8	11	11	11	1	2	1	1	1	2	0	5	3	2	2	2	4	1	1	2	4	3	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:158618302A>G	ENST00000368148.3	-	26	3891	c.3711T>C	c.(3709-3711)gaT>gaC	p.D1237D	SPTA1_ENST00000368147.3_Silent_p.D1237D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1237					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCTCACCTTATCTCCCAGGG	0.483													22	76					0	0	0	0	G	158618302	A	G	158618302	2	3	115	1	0	0	0	0	0	0	0	1	15206	446	16	5		5	SPTA1	1	158618302	Silent	SNP	A	TCGA-CN-A49A-01A-11D-A24D-08	2895269	158618302	90632319	15	21783											
PAPPA2	60676	broad.mit.edu	37	chr1	176564033	176564033	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggttttctggtcgacCgccctgccacaaagccattt	8	11	8	14	2	1	0	0	0	1	0	2	1	1	0	4	2	2	1	4	2	1	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:176564033C>T	ENST00000367662.3	+	3	2457	c.1293C>T	c.(1291-1293)acC>acT	p.T431T	PAPPA2_ENST00000367661.3_Silent_p.T431T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	431					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTGGTCGACCGCCCTGCCAC	0.562													33	56					0	0	0	0	T	176564033	C	T	176564033	2	4	115	1	0	0	0	0	0	0	0	1	11504	639	23	1		1	PAPPA2	1	176564033	Silent	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	17945731	176564033	72686588	16	21784											
CFHR2	3080	broad.mit.edu	37	chr1	196927140	196927140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgccagaacttgtatcaaCttgagggtaacaatcaaata	16	10	8	7	0	2	2	2	1	0	1	2	2	2	2	1	1	4	2	1	1	7	5			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:196927140C>T	ENST00000367415.4	+	4	664	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	CFHR2_ENST00000367421.3_Missense_Mutation_p.L184F|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	184	Sushi 3.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						CTTGTATCAACTTGAGGGTAA	0.398													10	88					0	0	0	0	T	196927140	C	T	196927140	3	4	115	1	0	0	0	0	1	0	0	0	3314	565	20	4	564	4	CFHR2	1	196927140	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	20363107	196927140	52323481	17	21785											
TMEM81	388730	broad.mit.edu	37	chr1	205053122	205053122	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttcctgtccaaactccaaGatgtctgaactcagacagct	11	10	7	13	0	2	3	1	1	1	2	5	3	5	3	3	0	3	2	3	0	3	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:205053122G>A	ENST00000367167.3	-	1	523	c.327C>T	c.(325-327)atC>atT	p.I109I		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	109	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CAAACTCCAAGATGTCTGAAC	0.498													23	36					0	0	0	0	A	205053122	G	A	205053122	2	1	115	1	0	0	0	0	0	0	0	1	16299	932	33	2		2	TMEM81	1	205053122	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	8125982	205053122	44197499	18	21786											
TBCE	6905	broad.mit.edu	37	chr1	235606187	235606187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgaagataaaataccctCatcaacttgatcagaaagtc	17	9	5	10	0	3	4	3	2	0	2	4	4	3	4	1	0	2	0	1	0	6	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:235606187C>T	ENST00000543662.1	+	16	1619	c.1513C>T	c.(1513-1515)Cat>Tat	p.H505Y	TBCE_ENST00000406207.1_Missense_Mutation_p.H454Y|TBCE_ENST00000366601.3_Missense_Mutation_p.H454Y|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	454					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AAAATACCCTCATCAACTTGA	0.373													5	24					0	0	0	0	T	235606187	C	T	235606187	3	4	115	1	0	0	0	0	1	0	0	0	15728	826	29	2	1414	2	TBCE	1	235606187	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	30553065	235606187	13644434	19	21787											
CEP170	9859	broad.mit.edu	37	chr1	243349162	243349162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taagtacccttgtcactttgGtcatcatcattatccttttc	8	18	4	11	0	4	0	4	0	0	0	6	0	5	0	2	1	1	1	2	1	3	7			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:243349162G>T	ENST00000366542.1	-	10	1536	c.1485C>A	c.(1483-1485)gaC>gaA	p.D495E	CEP170_ENST00000366544.1_Intron|CEP170_ENST00000366543.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	495						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGTCACTTTGGTCATCATCAT	0.378													29	58					2.85442e-18	3.30972e-18	1	0	T	243349162	G	T	243349162	3	4	115	1	0	0	0	0	1	0	0	0	3279	1252	44	4	3343	4	CEP170	1	243349162	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	7742975	243349162	5901459	20	21788											
NRXN1	9378	broad.mit.edu	37	chr2	50149208	50149208	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgtagtttcgactctcGtccacatggtatgagccttc	7	14	9	11	2	1	2	0	2	1	0	5	3	2	2	2	1	1	3	2	1	2	4			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:50149208G>A	ENST00000404971.1	-	24	5857	c.4518C>T	c.(4516-4518)gaC>gaT	p.D1506D	NRXN1_ENST00000405472.3_Silent_p.D1458D|NRXN1_ENST00000406316.2_Silent_p.D1436D|NRXN1_ENST00000342183.5_Silent_p.D401D|NRXN1_ENST00000402717.3_Silent_p.D1458D|NRXN1_ENST00000401669.2_Silent_p.D1466D|NRXN1_ENST00000401710.1_Silent_p.D454D|NRXN1_ENST00000406859.3_Silent_p.D1436D	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1436					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTCGACTCTCGTCCACATGGT	0.483													26	58					0	0	0	0	A	50149208	G	A	50149208	2	1	115	1	0	0	0	0	0	0	0	1	10736	1136	40	1		1	NRXN1	2	50149208	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08		50149208	193050165	21	21789											
ALMS1	7840	broad.mit.edu	37	chr2	73786128	73786128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgcagagcacTcagctcaagtaggagaccca	10	7	11	13	0	2	2	2	0	0	2	2	3	2	2	1	1	6	7	1	1	2	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:73786128T>C	ENST00000264448.6	+	15	10351	c.10240T>C	c.(10240-10242)Tca>Cca	p.S3414P	ALMS1_ENST00000409009.1_Missense_Mutation_p.S3372P	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3414					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGCAGAGCACTCAGCTCAAGT	0.433													21	19					0	0	0	0	C	73786128	T	C	73786128	3	2	115	1	0	0	0	0	1	0	0	0	535	1551	54	5	10298	5	ALMS1	2	73786128	Missense_Mutation	SNP	T	TCGA-CN-A49A-01A-11D-A24D-08	23636920	73786128	169413245	22	21790											
RALB	5899	broad.mit.edu	37	chr2	121047295	121047295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtggggcgtgcagtacGtggagacgtcagcgaagacc	11	5	17	8	4	1	3	1	0	0	3	1	5	1	3	1	3	3	2	1	3	3	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:121047295G>A	ENST00000272519.5	+	4	733	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	RALB_ENST00000420510.1_Missense_Mutation_p.V155M|RALB_ENST00000404963.3_Missense_Mutation_p.V176M|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000474855.2_Missense_Mutation_p.V177M	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	155					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CGTGCAGTACGTGGAGACGTC	0.567													11	347					0	0	0	0	A	121047295	G	A	121047295	3	1	115	1	0	0	0	0	1	0	0	0	13093	1145	40	1	473	1	RALB	2	121047295	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	47261167	121047295	122152078	23	21791											
TTC21B	79809	broad.mit.edu	37	chr2	166786745	166786745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttataccacttcagtgcctCtttaactcttccttgtaaaa	10	16	3	12	0	3	0	1	0	2	0	4	0	4	0	3	0	3	1	3	0	5	8			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:166786745C>G	ENST00000243344.7	-	9	1161	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	342						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTCAGTGCCTCTTTAACTCTT	0.358													20	47					0	0	0	0	G	166786745	C	G	166786745	3	3	115	1	0	0	0	0	1	0	0	0	16784	922	32	2	3010	2	TTC21B	2	166786745	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	45739450	166786745	76412628	24	21792											
FAM171B	165215	broad.mit.edu	37	chr2	187604984	187604984	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgttgaaagtccaggtgAatgacatcatcagtcgtcag	12	12	10	7	1	3	3	3	3	0	0	5	3	4	3	1	1	0	1	1	1	3	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:187604984A>T	ENST00000304698.5	+	2	471	c.268A>T	c.(268-270)Aat>Tat	p.N90Y		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	90						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGTCCAGGTGAATGACATCAT	0.388													18	68					0	0	0	0	T	187604984	A	T	187604984	3	4	115	1	0	0	0	0	1	0	0	0	5532	246	9	5	274	5	FAM171B	2	187604984	Missense_Mutation	SNP	A	TCGA-CN-A49A-01A-11D-A24D-08	20818239	187604984	55594389	25	21793											
PTH2R	5746	broad.mit.edu	37	chr2	209324626	209324626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcaatgtctcaggtgctgGgaacttagtgctggagacat	9	13	12	7	0	2	1	2	0	1	1	3	3	2	2	0	3	3	2	0	3	3	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:209324626G>T	ENST00000272847.2	+	9	1134	c.921G>T	c.(919-921)tgG>tgT	p.W307C	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	307						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCAGGTGCTGGGAACTTAGTG	0.358													22	62					7.87624e-14	9.02188e-14	1	0	T	209324626	G	T	209324626	3	4	115	1	0	0	0	0	1	0	0	0	12840	1241	43	4	955	4	PTH2R	2	209324626	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	21719642	209324626	33874747	26	21794											
VIL1	7429	broad.mit.edu	37	chr2	219296650	219296650	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtggctgcccagcagaaGatggtagatgatgggagtgg	10	7	18	6	0	0	4	0	1	0	3	0	5	0	5	1	5	2	3	1	5	2	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:219296650G>C	ENST00000248444.5	+	11	1261	c.1173G>C	c.(1171-1173)aaG>aaC	p.K391N	VIL1_ENST00000392114.2_Missense_Mutation_p.K80N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	391	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGCAGAAGATGGTAGATG	0.567													3	19					0	0	0	0	C	219296650	G	C	219296650	3	2	115	1	0	0	0	0	1	0	0	0	17260	933	33	2	1211	2	VIL1	2	219296650	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	9972024	219296650	23902723	27	21795											
BCS1L	617	broad.mit.edu	37	chr2	219527643	219527643	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctaggtcgcctcaccttCagtggactgctcaatgcctt	6	11	10	14	1	3	0	3	0	0	0	4	1	3	1	4	3	2	1	4	3	2	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:219527643C>T	ENST00000431802.1	+	7	1626	c.927C>T	c.(925-927)ttC>ttT	p.F309F	BCS1L_ENST00000412366.1_Silent_p.F309F|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000359273.3_Silent_p.F309F|BCS1L_ENST00000439945.1_Silent_p.F309F|BCS1L_ENST00000392111.2_Silent_p.F309F|BCS1L_ENST00000392109.1_Silent_p.F309F|BCS1L_ENST00000392110.2_Silent_p.F309F			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	309					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTCACCTTCAGTGGACTGC	0.537													30	70					0	0	0	0	T	219527643	C	T	219527643	2	4	115	1	0	0	0	0	0	0	0	1	1393	825	29	2		2	BCS1L	2	219527643	Silent	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	230993	219527643	23671730	28	21796											
SLC4A3	6508	broad.mit.edu	37	chr2	220501536	220501536	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctcgcctttcacccaggaGatctttgcctttctcatctc	6	15	5	15	1	5	1	2	0	4	1	8	2	5	1	3	1	1	0	3	1	0	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:220501536G>A	ENST00000358055.3	+	16	2987	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	SLC4A3_ENST00000373762.3_Silent_p.E852E|SLC4A3_ENST00000373760.2_Silent_p.E825E|SLC4A3_ENST00000273063.6_Silent_p.E852E|SLC4A3_ENST00000317151.3_Silent_p.E825E			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	825	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCACCCAGGAGATCTTTGCCT	0.577													29	72					0	0	0	0	A	220501536	G	A	220501536	2	1	115	1	0	0	0	0	0	0	0	1	14743	933	33	2		2	SLC4A3	2	220501536	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	973893	220501536	22697837	29	21797											
RAMP1	10267	broad.mit.edu	37	chr2	238785964	238785964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtagacatggaggccGtcggggagacgctgtggtgt	7	8	18	8	3	0	2	0	0	0	2	2	4	1	3	2	6	0	2	2	6	1	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:238785964G>A	ENST00000254661.4	+	2	283	c.151G>A	c.(151-153)Gtc>Atc	p.V51I	RAMP1_ENST00000403885.1_Missense_Mutation_p.V29I|RAMP1_ENST00000409726.1_Missense_Mutation_p.V29I|RAMP1_ENST00000404910.2_Missense_Mutation_p.V29I	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	51					intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	CATGGAGGCCGTCGGGGAGAC	0.652													4	79					0	0	0	0	A	238785964	G	A	238785964	3	1	115	1	0	0	0	0	1	0	0	0	13103	1145	40	1	157	1	RAMP1	2	238785964	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	18284428	238785964	4413409	30	21798											
KIF15	56992	broad.mit.edu	37	chr3	44856477	44856477	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctttcttcagtgaaattgGaatatagttcattcaaaacg	14	14	7	6	1	4	1	3	1	1	0	4	2	4	2	0	1	2	2	0	1	6	7			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:44856477G>T	ENST00000326047.4	+	20	2607	c.2458G>T	c.(2458-2460)Gaa>Taa	p.E820*	KIF15_ENST00000425755.1_Nonsense_Mutation_p.E455*	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	820					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGTGAAATTGGAATATAGTTC	0.363													13	44					2.27111e-07	2.53988e-07	1	0	T	44856477	G	T	44856477	4	4	115	1	0	0	0	0	0	1	0	0	8328	1175	41	2	2536	2	KIF15	3	44856477	Nonsense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08		44856477	153165953	31	21799											
NDUFAF3	25915	broad.mit.edu	37	chr3	49059931	49059931	+	Missense_Mutation	SNP	G	G	T																															aaacggaaaccgcgtgctcgGcccctgcgctctgctcccgc																										TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:49059931G>T	ENST00000326925.6	+	2	1364	c.230G>T	c.(229-231)gGc>gTc	p.G77V	NDUFAF3_ENST00000326912.4_Missense_Mutation_p.G20V|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.G20V|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.G20V	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	77			G -> R (in MT-C1D).		mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CGCGTGCTCGGCCCCTGCGCT	0.632													4	21					1.024e-07	1.152e-07	1	0	T	49059931	G	T	49059931	3	4	115	1	0	0	0	0	1	0	0	0	10346	1203	42	4	236	4	NDUFAF3	3	49059931	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	4203454	49059931	148962499	32	21800	180	2									
NDUFAF3	25915	broad.mit.edu	37	chr3	49059932	49059932	+	Silent	SNP	C	C	A																															aacggaaaccgcgtgctcggCccctgcgctctgctcccgca																										TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:49059932C>A	ENST00000326925.6	+	2	1365	c.231C>A	c.(229-231)ggC>ggA	p.G77G	NDUFAF3_ENST00000326912.4_Silent_p.G20G|NDUFAF3_ENST00000395458.2_Silent_p.G20G|NDUFAF3_ENST00000451378.2_Silent_p.G20G	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	77			G -> R (in MT-C1D).		mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GCGTGCTCGGCCCCTGCGCTC	0.632													4	21					1	1	1	0	A	49059932	C	A	49059932	2	1	115	1	0	0	0	0	0	0	0	1	10346	726	26	4		4	NDUFAF3	3	49059932	Silent	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	1	49059932	148962498	33	21801	180	2									
SHQ1	55164	broad.mit.edu	37	chr3	72842100	72842100	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacacacagtagtctgagAtgtagagatcattcagtatg	13	11	9	8	0	3	2	2	1	1	2	4	4	4	2	1	0	0	3	1	0	3	4			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:72842100A>G	ENST00000325599.8	-	10	1287	c.1148T>C	c.(1147-1149)aTc>aCc	p.I383T	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Missense_Mutation_p.I355T	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	383					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GTAGTCTGAGATGTAGAGATC	0.343													3	28					0	0	0	0	G	72842100	A	G	72842100	3	3	115	1	0	0	0	0	1	0	0	0	14380	333	12	5	593	5	SHQ1	3	72842100	Missense_Mutation	SNP	A	TCGA-CN-A49A-01A-11D-A24D-08	23782168	72842100	125180330	34	21802											
CLSTN2	64084	broad.mit.edu	37	chr3	140281142	140281142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taattctactgcaggctactCcatctacggtaaggccacac	11	10	7	13	1	2	0	0	0	2	0	3	0	3	0	2	3	4	3	2	3	5	6			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:140281142C>A	ENST00000458420.3	+	13	2394	c.2204C>A	c.(2203-2205)tCc>tAc	p.S735Y		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	735					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCAGGCTACTCCATCTACGGT	0.552										HNSCC(16;0.037)			25	33					4.4004e-07	4.8636e-07	1	0	A	140281142	C	A	140281142	3	1	115	1	0	0	0	0	1	0	0	0	3592	855	30	2	2254	2	CLSTN2	3	140281142	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	67439042	140281142	57741288	35	21803											
PIK3CA	5290	broad.mit.edu	37	chr3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctgaaatcactgagcAggagaaagattttctatgga	13	12	9	7	0	4	4	1	2	3	2	5	6	4	5	0	2	1	1	0	2	3	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	51					0	0	0	0	G	178936095	A	G	178936095	3	3	115	1	0	0	0	0	1	0	0	0	11985	188	7	5	1671	5	PIK3CA	3	178936095	Missense_Mutation	SNP	A	TCGA-CN-A49A-01A-11D-A24D-08	38654953	178936095	19086335	36	21804											
MAP3K13	9175	broad.mit.edu	37	chr3	185184672	185184672	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acaaacgacaccctgttcgtCctatcatccatcccaatgcc	11	9	4	17	2	1	0	1	0	0	0	5	1	4	0	5	0	2	1	5	0	3	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:185184672C>G	ENST00000265026.3	+	10	1898	c.1564C>G	c.(1564-1566)Cct>Gct	p.P522A	MAP3K13_ENST00000446828.1_Missense_Mutation_p.P315A|MAP3K13_ENST00000443863.1_Missense_Mutation_p.P378A|MAP3K13_ENST00000535426.1_Missense_Mutation_p.P378A|MAP3K13_ENST00000424227.1_Missense_Mutation_p.P522A	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	522					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCCTGTTCGTCCTATCATCCA	0.493													44	53					0	0	0	0	G	185184672	C	G	185184672	3	3	115	1	0	0	0	0	1	0	0	0	9316	855	30	2	1598	2	MAP3K13	3	185184672	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	6248577	185184672	12837758	37	21805											
ATP13A5	344905	broad.mit.edu	37	chr3	193048936	193048936	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaagcacacgaggtttatTtgcccacacatgttgattct	11	13	7	10	1	2	1	1	1	1	0	2	2	2	1	1	1	2	3	1	1	2	5			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:193048936T>G	ENST00000342358.4	-	12	1554	c.1437A>C	c.(1435-1437)caA>caC	p.Q479H		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	479					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)		CGAGGTTTATTTGCCCACACA	0.433													47	91					0	0	0	0	G	193048936	T	G	193048936	3	3	115	1	0	0	0	0	1	0	0	0	1131	1838	64	5	2293	5	ATP13A5	3	193048936	Missense_Mutation	SNP	T	TCGA-CN-A49A-01A-11D-A24D-08	7864264	193048936	4973494	38	21806											
GRSF1	2926	broad.mit.edu	37	chr4	71693581	71693581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccttacctatttccttctCactttcaaaagctgtcatgg	9	15	5	12	0	3	0	3	0	1	0	5	1	4	0	3	1	2	1	3	1	4	5			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:71693581C>T	ENST00000254799.6	-	6	1240	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.E213K|GRSF1_ENST00000545193.1_Missense_Mutation_p.E257K|GRSF1_ENST00000439371.1_Missense_Mutation_p.E213K	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	375					mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			ATTTCCTTCTCACTTTCAAAA	0.373													27	115					0	0	0	0	T	71693581	C	T	71693581	3	4	115	1	0	0	0	0	1	0	0	0	6859	835	29	2	335	2	GRSF1	4	71693581	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08		71693581	119460695	39	21807											
C4orf22	255119	broad.mit.edu	37	chr4	81283948	81283948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggtggagctaggctaccGagggactggagagagagtga	10	7	19	5	1	0	3	0	1	0	2	0	8	0	5	1	5	2	3	1	5	2	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:81283948G>A	ENST00000358105.3	+	2	201	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	C4orf22_ENST00000508675.1_Missense_Mutation_p.R51Q|C4orf22_ENST00000512931.1_3'UTR	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	51										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						CTAGGCTACCGAGGGACTGGA	0.463													30	95					0	0	0	0	A	81283948	G	A	81283948	3	1	115	1	0	0	0	0	1	0	0	0	2276	1058	37	1	158	1	C4orf22	4	81283948	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	9590367	81283948	109870328	40	21808											
SCD5	79966	broad.mit.edu	37	chr4	83582187	83582187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgaagcatctcacacgctgCctcttgattgagagctcttc	9	11	8	13	2	3	2	1	2	3	1	5	4	3	2	1	0	3	3	1	0	1	3	rs143531463		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:83582187C>T	ENST00000273908.4	-	4	847	c.613G>A	c.(613-615)Gca>Aca	p.A205T	SCD5_ENST00000319540.4_Intron	NM_024906.2	NP_079182.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	0					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TCACACGCTGCCTCTTGATTG	0.418													8	242					0	0	0	0	T	83582187	C	T	83582187	3	4	115	1	0	0	0	0	1	0	0	0	13973	739	26	4	593	4	SCD5	4	83582187	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	2298239	83582187	107572089	41	21809											
RNF150	57484	broad.mit.edu	37	chr4	141888838	141888838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaataaaagacgagccatGcgagggaaatgatcatcagg	16	7	12	6	2	2	2	2	1	0	1	2	5	2	3	1	2	2	1	1	2	4	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:141888838G>T	ENST00000420921.2	-	3	339	c.251C>A	c.(250-252)gCa>gAa	p.A84E	RNF150_ENST00000306799.3_Intron|RNF150_ENST00000515673.1_Missense_Mutation_p.A225E|RNF150_ENST00000507500.1_Missense_Mutation_p.A225E|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000379512.2_Missense_Mutation_p.A84E			Q9ULK6	RN150_HUMAN	ring finger protein 150	225	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GACGAGCCATGCGAGGGAAAT	0.418													20	78					2.39187e-15	2.75649e-15	1	0	T	141888838	G	T	141888838	3	4	115	1	0	0	0	0	1	0	0	0	13536	1319	46	4	666	4	RNF150	4	141888838	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	58306651	141888838	49265438	42	21810											
HHIP	64399	broad.mit.edu	37	chr4	145627831	145627831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggttgtggaatacacagtatCcaggtatcactaaaaggcat	14	10	10	7	0	1	0	1	0	0	0	2	1	2	1	1	4	1	4	1	4	6	5			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:145627831C>T	ENST00000296575.3	+	5	1635	c.980C>T	c.(979-981)tCc>tTc	p.S327F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	327						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TACACAGTATCCAGGTATCAC	0.368													9	23					0	0	0	0	T	145627831	C	T	145627831	3	4	115	1	0	0	0	0	1	0	0	0	7142	855	30	2	998	2	HHIP	4	145627831	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	3738993	145627831	45526445	43	21811											
FSTL5	56884	broad.mit.edu	37	chr4	162307078	162307078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggttccaaggccattcttCtgccttgagtggttccttga	5	14	10	12	1	2	2	0	2	2	0	4	2	4	2	5	3	1	2	5	3	1	6			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:162307078C>T	ENST00000306100.5	-	16	2801	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	FSTL5_ENST00000427802.2_Missense_Mutation_p.E779K|FSTL5_ENST00000379164.4_Missense_Mutation_p.E788K|FSTL5_ENST00000536695.1_Missense_Mutation_p.E788K|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	789						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GGCCATTCTTCTGCCTTGAGT	0.468													29	96					0	0	0	0	T	162307078	C	T	162307078	3	4	115	1	0	0	0	0	1	0	0	0	6128	922	32	2	182	2	FSTL5	4	162307078	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	16679247	162307078	28847198	44	21812											
FAT1	2195	broad.mit.edu	37	chr4	187630588	187630588	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccctgacctttgttcGcgcctccacattagtatttt	6	15	6	14	2	0	1	0	1	0	0	2	1	1	1	4	0	1	3	4	0	2	6			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:187630588G>A	ENST00000441802.2	-	2	603	c.394C>T	c.(394-396)Cga>Tga	p.R132*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	132	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.R132*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCTTTGTTCGCGCCTCCACA	0.413										HNSCC(5;0.00058)			20	123					0	0	0	0	A	187630588	G	A	187630588	4	1	115	1	0	0	0	0	0	1	0	0	5734	1095	38	1	13476	1	FAT1	4	187630588	Nonsense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	25323510	187630588	3523688	45	21813											
FAT1	2195	broad.mit.edu	37	chr4	187630671	187630671	+	Frame_Shift_Del	DEL	T	T	-																															ctctattaagaatagctgtaTttcctcctttggtccttatt																										TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:187630671delT	ENST00000441802.2	-	2	520	c.311delA	c.(310-312)atfs	p.N104fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	104	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATAGCTGTATTTCCTCCTTT	0.393										HNSCC(5;0.00058)			30	39	---	---	---	---					-	187630671	T	-	187630671	7	5	115	1	0	1	0	1	0	0	0	0	5734	1493	52	0	13559	0	FAT1	4	187630671	Frame_Shift_Del	DEL	T	TCGA-CN-A49A-01A-11D-A24D-08	83	187630671	3523605	46	21814											
PRDM9	56979	broad.mit.edu	37	chr5	23522455	23522455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaagatgtatagcctgcGagaaagaaagggtcatgcat	17	7	12	5	1	1	4	1	0	0	4	1	5	1	4	1	1	3	2	1	1	6	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:23522455G>A	ENST00000296682.3	+	7	733	c.551G>A	c.(550-552)cGa>cAa	p.R184Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TATAGCCTGCGAGAAAGAAAG	0.458										HNSCC(3;0.000094)			23	403					0	0	0	0	A	23522455	G	A	23522455	3	1	115	1	0	0	0	0	1	0	0	0	12543	1058	37	1	573	1	PRDM9	5	23522455	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08		23522455	157392805	47	21815											
C9	735	broad.mit.edu	37	chr5	39308344	39308344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacttaccagctctaccctCtcccctctttacacaatcat	10	12	1	18	0	4	0	1	0	3	0	5	0	4	0	4	0	4	1	4	0	4	4			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:39308344C>G	ENST00000263408.4	-	8	1323	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	410	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCTCTACCCTCTCCCCTCTTT	0.428													30	43					0	0	0	0	G	39308344	C	G	39308344	3	3	115	1	0	0	0	0	1	0	0	0	2468	922	32	2	467	2	C9	5	39308344	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	15785889	39308344	141606916	48	21816											
CCL28	56477	broad.mit.edu	37	chr5	43388547	43388547	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatatgatgtgaaacctcCgtgcaacagctggaggcaat	14	8	11	8	1	0	2	0	2	0	0	1	4	1	3	2	2	4	3	2	2	5	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:43388547C>T	ENST00000361115.4	-	2	170	c.96G>A	c.(94-96)acG>acA	p.T32T	CCL28_ENST00000513525.1_5'UTR|CCL28_ENST00000537013.1_Silent_p.T32T	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	32					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						GTGAAACCTCCGTGCAACAGC	0.423													19	28					0	0	0	0	T	43388547	C	T	43388547	2	4	115	1	0	0	0	0	0	0	0	1	2927	639	23	1		1	CCL28	5	43388547	Silent	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	4080203	43388547	137526713	49	21817											
SEMA6A	57556	broad.mit.edu	37	chr5	115783098	115783098	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cggctgccgcggctgggcttCcgcttctgctgcagcgttgg	1	10	16	14	5	1	0	0	0	1	0	2	0	2	0	2	4	4	7	2	4	0	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:115783098C>G	ENST00000343348.6	-	19	3091	c.2304G>C	c.(2302-2304)cgG>cgC	p.R768R	SEMA6A_ENST00000503865.1_Silent_p.R147R|SEMA6A_ENST00000513137.1_Silent_p.R195R|SEMA6A_ENST00000282394.6_Silent_p.R245R|SEMA6A_ENST00000510263.1_Silent_p.R768R|SEMA6A_ENST00000257414.8_Silent_p.R785R	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	768					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGCTGGGCTTCCGCTTCTGCT	0.637													27	83					0	0	0	0	G	115783098	C	G	115783098	2	3	115	1	0	0	0	0	0	0	0	1	14126	842	30	2		2	SEMA6A	5	115783098	Silent	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	72394551	115783098	65132162	50	21818											
CHSY3	337876	broad.mit.edu	37	chr5	129520570	129520570	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagagagaccgaagagctaGatgtcaacagtcttgtggag	13	8	13	7	1	3	4	2	0	1	4	3	7	3	5	1	1	2	1	1	1	3	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:129520570G>C	ENST00000305031.4	+	3	2093	c.1735G>C	c.(1735-1737)Gat>Cat	p.D579H		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	579						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CGAAGAGCTAGATGTCAACAG	0.403													8	53					0	0	0	0	C	129520570	G	C	129520570	3	2	115	1	0	0	0	0	1	0	0	0	3442	942	33	2	1745	2	CHSY3	5	129520570	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	13737472	129520570	51394690	51	21819											
PCDHA8	56140	broad.mit.edu	37	chr5	140222304	140222304	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacacggtgttcgtgaaggaGaacaacccgccgggctgcca	10	6	13	12	4	0	2	0	1	0	1	1	3	0	2	3	3	4	2	3	3	4	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:140222304G>C	ENST00000531613.1	+	1	1398	c.1398G>C	c.(1396-1398)gaG>gaC	p.E466D	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E466D|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGAAGGAGAACAACCCGC	0.662													17	78					0	0	0	0	C	140222304	G	C	140222304	3	2	115	1	0	0	0	0	1	0	0	0	11601	933	33	2	1400	2	PCDHA8	5	140222304	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	10701734	140222304	40692956	52	21820											
FLT4	2324	broad.mit.edu	37	chr5	180046339	180046339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgagctccgacatcagcGcgcggtgctcgctggccgtg	4	9	14	14	6	2	1	1	1	1	0	4	2	3	1	2	2	3	3	2	2	0	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:180046339G>A	ENST00000261937.6	-	19	2753	c.2675C>T	c.(2674-2676)gCg>gTg	p.A892V	FLT4_ENST00000502649.1_Missense_Mutation_p.A892V|FLT4_ENST00000393347.3_Missense_Mutation_p.A892V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	892	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.A892V(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CGACATCAGCGCGCGGTGCTC	0.701													11	12					0	0	0	0	A	180046339	G	A	180046339	3	1	115	1	0	0	0	0	1	0	0	0	5989	1087	38	1	1472	1	FLT4	5	180046339	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	39824035	180046339	868921	53	21821											
C4A	720	broad.mit.edu	37	chr6	31964273	31964273	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggctcctgggtgcccAcgcagctgccatcacggcct	4	8	13	16	2	1	0	1	0	0	0	2	0	2	0	4	3	4	4	4	3	0	0			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr6:31964273A>T	ENST00000428956.2	+	28	3656	c.3572A>T	c.(3571-3573)cAc>cTc	p.H1191L	C4A_ENST00000498271.1_Missense_Mutation_p.H1191L	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		CTGGGTGCCCACGCAGCTGCC	0.592													9	112					0	0	0	0	T	31964273	A	T	31964273	3	4	115	1	0	0	0	0	1	0	0	0	2268	159	6	5		5	C4A	6	31964273	Missense_Mutation	SNP	A	TCGA-CN-A49A-01A-11D-A24D-08		31964273	139150794	54	21822											
PAQR8	85315	broad.mit.edu	37	chr6	52268989	52268991	+	In_Frame_Del	DEL	CTT	CTT	-																															gtccacatggcctgcctctcCttcttcttcctggctgcctg																										TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr6:52268989_52268991delCTT	ENST00000442253.2	+	2	1152_1154	c.978_980delCTT	c.(976-981)tcc>tc	p.SF326del	PAQR8_ENST00000360726.3_In_Frame_Del_p.SF326del	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	326					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCTGCCTCTCCTTCTTCTTCCTG	0.616													12	18	---	---	---	---					-	52268991	CTT	-	52268989	7	5	115	1	0	1	0	1	0	0	0	0	11512	668	24	0	980	0	PAQR8	6	52268989	In_Frame_Del	DEL	CTT	TCGA-CN-A49A-01A-11D-A24D-08	20304716	52268989	118846078	55	21823											
COL19A1	1310	broad.mit.edu	37	chr6	70866224	70866224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagggtgatatagggccacGgggtcctccaggaatcccag	9	7	14	11	1	0	1	0	1	0	0	3	2	3	2	4	5	0	0	4	5	4	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr6:70866224G>A	ENST00000322773.4	+	33	2303	c.2201G>A	c.(2200-2202)cGg>cAg	p.R734Q	COL19A1_ENST00000393344.1_Missense_Mutation_p.R356Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	734	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATAGGGCCACGGGGTCCTCCA	0.483													8	47					0	0	0	0	A	70866224	G	A	70866224	3	1	115	1	0	0	0	0	1	0	0	0	3706	1116	39	1	2327	1	COL19A1	6	70866224	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	18597235	70866224	100248843	56	21824											
VNN2	8875	broad.mit.edu	37	chr6	133072577	133072577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggggatgtgaatccacctCtgaaaggagaagttttccca	12	10	11	8	0	1	3	0	2	1	1	3	5	3	4	3	3	0	1	3	3	4	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr6:133072577C>T	ENST00000326499.6	-	5	1031	c.907G>A	c.(907-909)Gag>Aag	p.E303K	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Missense_Mutation_p.E250K	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	303	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GAATCCACCTCTGAAAGGAGA	0.438													12	91					0	0	0	0	T	133072577	C	T	133072577	3	4	115	1	0	0	0	0	1	0	0	0	17279	922	32	2	667	2	VNN2	6	133072577	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	62206353	133072577	38042490	57	21825											
FAM188B	84182	broad.mit.edu	37	chr7	30880454	30880454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaggagatagcaaagccGactgtgctcagtaagtcagt	13	9	12	7	1	2	2	2	1	0	1	2	4	2	2	1	1	3	3	1	1	4	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:30880454G>T	ENST00000265299.6	+	9	1512	c.1435G>T	c.(1435-1437)Gac>Tac	p.D479Y	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	479										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAGCAAAGCCGACTGTGCTCA	0.488													10	34					7.48243e-07	8.12747e-07	1	0	T	30880454	G	T	30880454	3	4	115	1	0	0	0	0	1	0	0	0	5557	1058	37	3	1469	3	FAM188B	7	30880454	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08		30880454	128258209	58	21826											
CDK14	5218	broad.mit.edu	37	chr7	90585078	90585078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtggttaccttgtggtacaGacctccagatgtccttctag	8	13	10	10	0	1	2	0	0	1	2	3	2	3	2	4	2	2	2	4	2	3	5			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:90585078G>A	ENST00000406263.1	+	8	1197	c.755G>A	c.(754-756)aGa>aAa	p.R252K	CDK14_ENST00000436577.2_Missense_Mutation_p.R169K|CDK14_ENST00000380050.3_Missense_Mutation_p.R298K|CDK14_ENST00000265741.3_Missense_Mutation_p.R280K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	298	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TTGTGGTACAGACCTCCAGAT	0.433													20	134					0	0	0	0	A	90585078	G	A	90585078	3	1	115	1	0	0	0	0	1	0	0	0	3159	942	33	2	869	2	CDK14	7	90585078	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	59704624	90585078	68553585	59	21827											
TMEM130	222865	broad.mit.edu	37	chr7	98446303	98446303	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcacatgggaaagcaaagAcagccggctggattcctggg	12	6	14	9	1	0	1	0	0	0	1	1	3	1	3	2	4	3	3	2	4	3	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:98446303A>T	ENST00000450876.1	-	7	2085	c.770T>A	c.(769-771)gTc>gAc	p.V257D	TMEM130_ENST00000339375.4_Missense_Mutation_p.V341D|TMEM130_ENST00000345589.4_Missense_Mutation_p.V239D|TMEM130_ENST00000546258.1_Missense_Mutation_p.V322D|TMEM130_ENST00000416379.2_Missense_Mutation_p.V341D			Q8N3G9	TM130_HUMAN	transmembrane protein 130	341						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAAAGCAAAGACAGCCGGCTG	0.498													90	59					0	0	0	0	T	98446303	A	T	98446303	3	4	115	1	0	0	0	0	1	0	0	0	16137	275	10	5	293	5	TMEM130	7	98446303	Missense_Mutation	SNP	A	TCGA-CN-A49A-01A-11D-A24D-08	7861225	98446303	60692360	60	21828											
NAMPT	10135	broad.mit.edu	37	chr7	105891639	105891639	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagacagtatggagaagatCctgcataaatggaaatttca	17	9	10	5	0	1	3	1	0	0	3	2	6	2	4	1	2	1	2	1	2	6	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:105891639C>T	ENST00000222553.3	-	11	1673	c.1365_splice	c.e11-1	p.D456_splice		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	456					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGGAGAAGATCCTGCATAAAT	0.333													70	66					0	0	0	0	T	105891639	C	T	105891639	5	4	115	1	0	0	0	0	0	0	1	0	10219	869	30	2	113	2	NAMPT	7	105891639	Splice_Site	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	7445336	105891639	53247024	61	21829											
WEE2	494551	broad.mit.edu	37	chr7	141414206	141414206	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaataagaggagatctGtaagtgctctattacttatg	15	12	10	4	0	2	2	0	0	2	2	2	4	2	3	0	2	2	2	0	2	7	5			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:141414206G>T	ENST00000397541.2	+	2	945		c.e2+1		WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)						egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GAGGAGATCTGTAAGTGCTCT	0.368													6	40					5.9392e-07	6.48849e-07	1	0	T	141414206	G	T	141414206	5	4	115	1	0	0	0	0	0	0	1	0	17441	1391	48	4	546	4	WEE2	7	141414206	Splice_Site	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	35522567	141414206	17724457	62	21830											
ABCB8	11194	broad.mit.edu	37	chr7	150737591	150737591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccctcccacaggtggtcCgggggctgagtgcaggtgcc	5	7	15	14	1	0	1	0	1	0	0	3	1	3	1	5	5	2	2	5	5	0	0			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:150737591C>T	ENST00000358849.4	+	11	1351	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	ABCB8_ENST00000297504.6_Missense_Mutation_p.R437W|ABCB8_ENST00000356058.4_Missense_Mutation_p.P458L|ABCB8_ENST00000498578.1_Missense_Mutation_p.R420W|ABCB8_ENST00000542328.1_Missense_Mutation_p.R332W	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	437	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACAGGTGGTCCGGGGGCTGAG	0.657													20	37					0	0	0	0	T	150737591	C	T	150737591	3	4	115	1	0	0	0	0	1	0	0	0	47	643	23	1	1300	1	ABCB8	7	150737591	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	9323385	150737591	8401072	63	21831											
FUT10	84750	broad.mit.edu	37	chr8	33230104	33230104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catttttgaaatcagtccttGaatactaggccccaaaactc	13	12	5	11	0	1	2	1	2	0	0	3	2	2	2	3	1	2	0	3	1	6	5			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr8:33230104G>C	ENST00000327671.5	-	5	2062	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	FUT10_ENST00000518672.1_Missense_Mutation_p.F449L|FUT10_ENST00000524021.1_Missense_Mutation_p.F449L	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	477					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		ATCAGTCCTTGAATACTAGGC	0.373													13	9					0	0	0	0	C	33230104	G	C	33230104	3	2	115	1	0	0	0	0	1	0	0	0	6150	1281	45	2	12	2	FUT10	8	33230104	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08		33230104	113133918	64	21832											
VCPIP1	80124	broad.mit.edu	37	chr8	67578153	67578153	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggtttctaccggagctgctCcatgcaatacagattggttt	8	14	10	9	1	1	1	0	0	1	1	2	2	2	2	2	3	5	5	2	3	3	5			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr8:67578153C>T	ENST00000310421.4	-	1	1299	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	347	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CGGAGCTGCTCCATGCAATAC	0.483													60	74					0	0	0	0	T	67578153	C	T	67578153	4	4	115	1	0	0	0	0	0	1	0	0	17237	856	30	2	2639	2	VCPIP1	8	67578153	Nonsense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	34348049	67578153	78785869	65	21833											
PLEC	5339	broad.mit.edu	37	chr8	144993270	144993270	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgccgccgccgggaatGtcgatctgtgtctcttcaaa	6	11	12	12	4	3	0	1	0	2	0	5	2	3	1	3	2	1	1	3	2	2	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr8:144993270G>A	ENST00000322810.4	-	32	11299	c.11130C>T	c.(11128-11130)gaC>gaT	p.D3710D	PLEC_ENST00000345136.3_Silent_p.D3573D|PLEC_ENST00000354589.3_Silent_p.D3573D|PLEC_ENST00000527096.1_Silent_p.D3596D|PLEC_ENST00000354958.2_Silent_p.D3551D|PLEC_ENST00000356346.3_Silent_p.D3559D|PLEC_ENST00000436759.2_Silent_p.D3600D|PLEC_ENST00000357649.2_Silent_p.D3577D|PLEC_ENST00000398774.2_Silent_p.D3541D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3710	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCCGGGAATGTCGATCTGTG	0.627													82	138					0	0	0	0	A	144993270	G	A	144993270	2	1	115	1	0	0	0	0	0	0	0	1	12124	1368	48	4		4	PLEC	8	144993270	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	77415117	144993270	1370752	66	21834											
CPSF1	29894	broad.mit.edu	37	chr8	145619370	145619370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgaggttgcggtcgcggtCagacactggggagcagaggc	8	6	18	9	3	1	3	1	1	0	2	2	4	1	4	0	6	2	2	0	6	0	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr8:145619370C>T	ENST00000349769.3	-	34	3911	c.3817G>A	c.(3817-3819)Gac>Aac	p.D1273N	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'UTR	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1273					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CGGTCGCGGTCAGACACTGGG	0.667													5	36					0	0	0	0	T	145619370	C	T	145619370	3	4	115	1	0	0	0	0	1	0	0	0	3854	826	29	2	534	2	CPSF1	8	145619370	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	626100	145619370	744652	67	21835											
SMARCA2	6595	broad.mit.edu	37	chr9	2086853	2086853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtggaaatacatgatagtgGacgaaggccaccgaatgaag	15	6	14	6	2	0	2	0	2	0	0	0	6	0	4	2	4	1	0	2	4	6	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:2086853G>A	ENST00000382203.1	+	18	2760	c.2551G>A	c.(2551-2553)Gac>Aac	p.D851N	SMARCA2_ENST00000357248.2_Missense_Mutation_p.D851N|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D851N|SMARCA2_ENST00000382194.1_Missense_Mutation_p.D851N			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	851	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CATGATAGTGGACGAAGGCCA	0.488													14	58					0	0	0	0	A	2086853	G	A	2086853	3	1	115	1	0	0	0	0	1	0	0	0	14857	1174	41	2	2617	2	SMARCA2	9	2086853	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08		2086853	139126578	68	21836											
ELAVL2	1993	broad.mit.edu	37	chr9	23704928	23704928	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctacttaccagtgacctggtCgacaagaatacgagaagtaa	15	8	9	9	2	0	3	0	1	0	2	1	5	0	3	2	1	3	1	2	1	7	4			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:23704928C>G	ENST00000397312.2	-	4	749	c.475G>C	c.(475-477)Gac>Cac	p.D159H	ELAVL2_ENST00000223951.6_Missense_Mutation_p.D159H|ELAVL2_ENST00000380117.1_Missense_Mutation_p.D159H|ELAVL2_ENST00000380110.4_Missense_Mutation_p.D188H|ELAVL2_ENST00000544538.1_Missense_Mutation_p.D159H	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	159	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.D159N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTGACCTGGTCGACAAGAATA	0.423													13	71					0	0	0	0	G	23704928	C	G	23704928	3	3	115	1	0	0	0	0	1	0	0	0	5088	884	31	3	620	3	ELAVL2	9	23704928	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	21618075	23704928	117508503	69	21837											
KIAA1045	23349	broad.mit.edu	37	chr9	34977143	34977143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgagccgccttcctggctCggggcagtgggagcaccgtc	4	6	15	16	4	0	0	0	0	0	0	3	2	1	1	5	4	2	3	5	4	0	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:34977143C>T	ENST00000242315.3	+	6	995	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R305W	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	305							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CTTCCTGGCTCGGGGCAGTGG	0.597													23	60					0	0	0	0	T	34977143	C	T	34977143	3	4	115	1	0	0	0	0	1	0	0	0	8258	875	31	1	931	1	KIAA1045	9	34977143	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	11272215	34977143	106236288	70	21838											
CYLC2	1539	broad.mit.edu	37	chr9	105767861	105767861	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaatctgctgattcaaaGaaggatgcaaagaaaaatgc	20	7	9	5	0	2	4	1	1	1	3	2	5	2	5	0	1	3	2	0	1	7	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:105767861G>C	ENST00000374798.3	+	5	1018	c.948G>C	c.(946-948)aaG>aaC	p.K316N	CYLC2_ENST00000487798.1_Missense_Mutation_p.K316N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	316	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CTGATTcaaagaaggatgcaa	0.398													17	19					0	0	0	0	C	105767861	G	C	105767861	3	2	115	1	0	0	0	0	1	0	0	0	4174	933	33	2	966	2	CYLC2	9	105767861	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	70790718	105767861	35445570	71	21839											
C9orf84	158401	broad.mit.edu	37	chr9	114456558	114456558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttatccaaccattcatgagGatctctctttgaggtcatta	10	16	6	9	0	4	2	2	2	2	0	6	3	5	3	2	2	1	0	2	2	3	5	rs143727096		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:114456558G>C	ENST00000394779.3	-	21	3203	c.2959C>G	c.(2959-2961)Cct>Gct	p.P987A	C9orf84_ENST00000374287.3_Missense_Mutation_p.P1026A|C9orf84_ENST00000394777.4_Missense_Mutation_p.P952A|C9orf84_ENST00000318737.4_Missense_Mutation_p.P1026A	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1026										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CATTCATGAGGATCTCTCTTT	0.328													108	129					0	0	0	0	C	114456558	G	C	114456558	3	2	115	1	0	0	0	0	1	0	0	0	2525	1174	41	2	1274	2	C9orf84	9	114456558	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	8688697	114456558	26756873	72	21840											
SLC46A2	57864	broad.mit.edu	37	chr9	115648856	115648856	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtggatgtcaccacgccGgtcagagccaaggacagctg	11	5	14	11	2	2	1	2	0	0	1	2	3	2	3	3	4	2	1	3	4	2	0			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:115648856G>T	ENST00000374228.4	-	3	1485	c.1254C>A	c.(1252-1254)acC>acA	p.T418T		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	418						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						TCACCACGCCGGTCAGAGCCA	0.547													12	83					2.68362e-12	3.05545e-12	1	0	T	115648856	G	T	115648856	2	4	115	1	0	0	0	0	0	0	0	1	14733	1103	39	3		3	SLC46A2	9	115648856	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	1192298	115648856	25564575	73	21841											
MCM10	55388	broad.mit.edu	37	chr10	13234263	13234263	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggcacaggaatacccCagaagagcctgtcttgctct	10	8	10	13	0	2	2	0	0	2	2	2	4	2	3	4	2	3	2	4	2	3	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr10:13234263C>T	ENST00000378694.1	+	11	1600	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	MCM10_ENST00000484800.2_Nonsense_Mutation_p.Q510*|MCM10_ENST00000378714.3_Nonsense_Mutation_p.Q509*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	510					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGGAATACCCCAGAAGAGCCT	0.463													3	37					0	0	0	0	T	13234263	C	T	13234263	4	4	115	1	0	0	0	0	0	1	0	0	9454	595	21	4	1570	4	MCM10	10	13234263	Nonsense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08		13234263	122300484	74	21842											
ANKRD30A	91074	broad.mit.edu	37	chr10	37482118	37482118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctaaacccatttaggctcCctgcagaatgaaagtttcta	12	13	6	10	0	2	2	0	1	2	1	3	2	3	2	2	1	2	3	2	1	6	6			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr10:37482118C>T	ENST00000374660.1	+	33	2834	c.2735C>T	c.(2734-2736)cCc>cTc	p.P912L	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P793L|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P793L|ANKRD30A_ENST00000475522.1_3'UTR			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	967						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTAGGCTCCCTGCAGAATG	0.269													14	25					0	0	0	0	T	37482118	C	T	37482118	3	4	115	1	0	0	0	0	1	0	0	0	658	623	22	4	2484	4	ANKRD30A	10	37482118	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	24247855	37482118	98052629	75	21843											
TACR2	6865	broad.mit.edu	37	chr10	71175906	71175906	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcatcctccgatgggccagGatgatccagatgacgatggc	9	7	13	12	3	0	3	0	2	0	1	3	6	3	4	4	3	0	1	4	3	0	0			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr10:71175906G>T	ENST00000373306.4	-	1	717	c.174C>A	c.(172-174)atC>atA	p.I58I		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	58					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GATGGGCCAGGATGATCCAGA	0.597													17	15					5.01169e-05	5.32141e-05	1	0	T	71175906	G	T	71175906	2	4	115	1	0	0	0	0	0	0	0	1	15597	1164	41	2		2	TACR2	10	71175906	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	33693788	71175906	64358841	76	21844											
ZNF518A	9849	broad.mit.edu	37	chr10	97916386	97916386	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacattgcttcataagtctGagagagctgaagaagagggt	13	10	13	5	0	2	5	1	2	1	3	2	6	2	5	0	1	3	3	0	1	4	4			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr10:97916386G>A	ENST00000534948.1	+	0	1164							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TCATAAGTCTGAGAGAGCTGA	0.363													35	34					0	0	0	0	A	97916386	G	A	97916386	1	1	115	0	1	0	0	0	0	0	0	0	18057	1291	45	2		2	ZNF518A	10	97916386	RNA	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	26740480	97916386	37618361	77	21845											
PHRF1	57661	broad.mit.edu	37	chr11	596953	596953	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaatgcttggacccccctctCcaggaggtgccggtggacga	7	7	14	13	2	1	0	0	0	1	0	2	5	1	3	5	5	2	1	5	5	1	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:596953C>G	ENST00000264555.5	+	7	779	c.651C>G	c.(649-651)ctC>ctG	p.L217L	PHRF1_ENST00000533464.1_Silent_p.L213L|PHRF1_ENST00000416188.2_Silent_p.L217L|PHRF1_ENST00000413872.2_Silent_p.L216L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	217							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACCCCCCTCTCCAGGAGGTGC	0.612													5	40					0	0	0	0	G	596953	C	G	596953	2	3	115	1	0	0	0	0	0	0	0	1	11933	842	30	2		2	PHRF1	11	596953	Silent	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08		596953	134409563	78	21846											
OR6A2	8590	broad.mit.edu	37	chr11	6816739	6816739	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagatctccagaaaggaCatattagctagaaaaaagta	19	8	7	7	0	1	3	0	0	1	3	2	4	1	4	2	1	2	2	2	1	9	5			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:6816739C>A	ENST00000332601.3	-	1	389	c.201G>T	c.(199-201)atG>atT	p.M67I		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAGAAAGGACATATTAGCTA	0.438													14	51					7.93312e-07	8.56777e-07	1	0	A	6816739	C	A	6816739	3	1	115	1	0	0	0	0	1	0	0	0	11257	478	17	4	786	4	OR6A2	11	6816739	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	6219786	6816739	128189777	79	21847											
NLRP14	338323	broad.mit.edu	37	chr11	7079661	7079661	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgccctgcaacatgcacaAtgtactctgaagagccttgt	11	10	9	11	0	1	2	0	1	1	1	1	3	1	2	2	0	6	3	2	0	4	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:7079661A>G	ENST00000299481.4	+	8	2959	c.2613A>G	c.(2611-2613)caA>caG	p.Q871Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	871					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AACATGCACAATGTACTCTGA	0.348													15	67					0	0	0	0	G	7079661	A	G	7079661	2	3	115	1	0	0	0	0	0	0	0	1	10546	98	4	5		5	NLRP14	11	7079661	Silent	SNP	A	TCGA-CN-A49A-01A-11D-A24D-08	262922	7079661	127926855	80	21848											
STK33	65975	broad.mit.edu	37	chr11	8483358	8483358	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatagaggtttacctttggCgtttcaaatacttgttccag	10	16	8	7	1	1	1	1	0	0	1	2	1	2	1	2	2	2	3	2	2	5	9			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:8483358C>G	ENST00000447869.1	-	4	1470	c.552G>C	c.(550-552)acG>acC	p.T184T	STK33_ENST00000315204.1_Silent_p.T184T|STK33_ENST00000396672.1_Silent_p.T184T|STK33_ENST00000396673.1_Silent_p.T184T|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000534493.1_Silent_p.T143T			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	184	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTACCTTTGGCGTTTCAAATA	0.378													5	35					0	0	0	0	G	8483358	C	G	8483358	2	3	115	1	0	0	0	0	0	0	0	1	15390	755	27	3		3	STK33	11	8483358	Silent	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	1403697	8483358	126523158	81	21849											
HPS5	11234	broad.mit.edu	37	chr11	18320447	18320447	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctccacagatatcagggaGagatgtgagactttcccatt	11	10	10	10	1	1	3	1	1	0	3	3	6	3	4	2	1	0	1	2	1	1	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:18320447G>A	ENST00000396253.3	-	9	1176	c.714C>T	c.(712-714)ctC>ctT	p.L238L	HPS5_ENST00000438420.2_Silent_p.L238L|HPS5_ENST00000531848.1_Silent_p.L238L|HPS5_ENST00000349215.3_Silent_p.L352L	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	352						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATATCAGGGAGAGATGTGAGA	0.448									Hermansky-Pudlak syndrome				22	90					0	0	0	0	A	18320447	G	A	18320447	2	1	115	1	0	0	0	0	0	0	0	1	7392	929	33	2		2	HPS5	11	18320447	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	9837089	18320447	116686069	82	21850											
LRRC4C	57689	broad.mit.edu	37	chr11	40136786	40136786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctccacaatcaccggagCatagcatgtgaagtaattct	12	9	10	10	1	2	1	1	1	1	0	3	2	3	2	2	2	2	4	2	2	4	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:40136786C>A	ENST00000278198.2	-	2	3020	c.1057G>T	c.(1057-1059)Gct>Tct	p.A353S	LRRC4C_ENST00000527150.1_Missense_Mutation_p.A353S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.A353S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A353S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	353	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATCACCGGAGCATAGCATGTG	0.542													17	60					0.000566183	0.000591208	1	0	A	40136786	C	A	40136786	3	1	115	1	0	0	0	0	1	0	0	0	9072	710	25	4	869	4	LRRC4C	11	40136786	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	21816339	40136786	94869730	83	21851											
OR5T1	390155	broad.mit.edu	37	chr11	56043898	56043898	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcacctaactggagtgacaAtttatcatgggacaatcctc	12	11	7	11	0	2	1	2	1	0	0	4	3	3	3	2	2	1	0	2	2	4	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:56043898A>G	ENST00000313033.2	+	1	870	c.784A>G	c.(784-786)Att>Gtt	p.I262V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGGAGTGACAATTTATCATGG	0.418													33	185					0	0	0	0	G	56043898	A	G	56043898	3	3	115	1	0	0	0	0	1	0	0	0	11252	101	4	5	786	5	OR5T1	11	56043898	Missense_Mutation	SNP	A	TCGA-CN-A49A-01A-11D-A24D-08	15907112	56043898	78962618	84	21852											
DTX4	23220	broad.mit.edu	37	chr11	58956681	58956681	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggggctgcctgtgtgtctCaccaggccaccaaagctggt	6	8	14	13	1	1	0	1	0	1	0	2	0	1	0	4	4	2	2	4	4	1	0			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:58956681C>T	ENST00000227451.3	+	4	1148	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Silent_p.L242L	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	348					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CTGTGTGTCTCACCAGGCCAC	0.552													7	22					0	0	0	0	T	58956681	C	T	58956681	2	4	115	1	0	0	0	0	0	0	0	1	4833	813	29	2		2	DTX4	11	58956681	Silent	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	2912783	58956681	76049835	85	21853											
CCDC87	55231	broad.mit.edu	37	chr11	66359152	66359152	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctatcagagacccgtacGgcagccgcctggaccacgac	9	7	10	15	4	2	1	1	0	1	1	2	4	2	2	4	2	2	2	4	2	2	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:66359152G>A	ENST00000333861.3	-	1	1402	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	445										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGACCCGTACGGCAGCCGCCT	0.547													29	103					0	0	0	0	A	66359152	G	A	66359152	2	1	115	1	0	0	0	0	0	0	0	1	2889	1103	39	1		1	CCDC87	11	66359152	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	7402471	66359152	68647364	86	21854											
ALDH3B2	222	broad.mit.edu	37	chr11	67431210	67431210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagctgccgctgctggtcCgctccagcatctggttcaca	7	9	10	15	2	2	0	1	0	1	0	4	0	4	0	3	2	4	6	3	2	1	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:67431210C>T	ENST00000349015.3	-	9	1334	c.896G>A	c.(895-897)cGg>cAg	p.R299Q	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.R299Q	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	299					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GCTGCTGGTCCGCTCCAGCAT	0.602													18	18					0	0	0	0	T	67431210	C	T	67431210	3	4	115	1	0	0	0	0	1	0	0	0	500	652	23	1	269	1	ALDH3B2	11	67431210	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	1072058	67431210	67575306	87	21855											
KRTAP5-11	440051	broad.mit.edu	37	chr11	71293601	71293601	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatgacccacagcctgAggaggagcagcagggcttac	12	4	14	11	0	0	3	0	2	0	1	0	5	0	5	2	3	4	4	2	3	2	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:71293601A>C	ENST00000398530.1	-	1	320	c.283T>G	c.(283-285)Tca>Gca	p.S95A	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	95	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ccacagcctgaggaggagcag	0.627													36	101					0	0	0	0	C	71293601	A	C	71293601	3	2	115	1	0	0	0	0	1	0	0	0	8613	304	11	5	191	5	KRTAP5-11	11	71293601	Missense_Mutation	SNP	A	TCGA-CN-A49A-01A-11D-A24D-08	3862391	71293601	63712915	88	21856											
ARHGEF17	9828	broad.mit.edu	37	chr11	73078705	73078705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccctgccaggcctaaaatGctggttatcagtggaggtga	9	9	13	10	0	1	1	1	1	0	0	1	2	1	2	4	4	2	2	4	4	3	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:73078705G>T	ENST00000263674.3	+	21	6422	c.6072G>T	c.(6070-6072)atG>atT	p.M2024I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	2024					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGCCTAAAATGCTGGTTATCA	0.637													30	31					3.69857e-22	4.31499e-22	1	0	T	73078705	G	T	73078705	3	4	115	1	0	0	0	0	1	0	0	0	902	1319	46	4	6154	4	ARHGEF17	11	73078705	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	1785104	73078705	61927811	89	21857											
SLC2A14	144195	broad.mit.edu	37	chr12	7982437	7982437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctcagggcagtaggcgaGatctctccaatgtacatggg	9	8	12	12	1	2	1	1	0	1	1	4	2	3	1	3	3	1	3	3	3	3	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr12:7982437G>C	ENST00000543909.1	-	10	1266	c.507C>G	c.(505-507)atC>atG	p.I169M	SLC2A14_ENST00000396589.2_Missense_Mutation_p.I169M|SLC2A14_ENST00000535295.1_Missense_Mutation_p.I60M|SLC2A14_ENST00000539924.1_Missense_Mutation_p.I184M|SLC2A14_ENST00000542546.1_Missense_Mutation_p.I60M|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.I146M|SLC2A14_ENST00000340749.5_Missense_Mutation_p.I146M			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	169					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CAGTAGGCGAGATCTCTCCAA	0.502													18	30					0	0	0	0	C	7982437	G	C	7982437	3	2	115	1	0	0	0	0	1	0	0	0	14631	932	33	2	1083	2	SLC2A14	12	7982437	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08		7982437	125869458	90	21858											
NAV3	89795	broad.mit.edu	37	chr12	78512009	78512009	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagacaggttcctggagaaGaggcatgtctgcccaaggag	12	6	14	9	0	1	3	0	0	1	3	2	5	2	4	2	4	1	2	2	4	2	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr12:78512009G>C	ENST00000397909.2	+	14	3145	c.2972G>C	c.(2971-2973)aGa>aCa	p.R991T	NAV3_ENST00000228327.6_Missense_Mutation_p.R991T|NAV3_ENST00000266692.7_Missense_Mutation_p.R991T|NAV3_ENST00000536525.2_Missense_Mutation_p.R991T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	991						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCCTGGAGAAGAGGCATGTCT	0.547										HNSCC(70;0.22)			15	66					0	0	0	0	C	78512009	G	C	78512009	3	2	115	1	0	0	0	0	1	0	0	0	10255	942	33	2	3026	2	NAV3	12	78512009	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	70529572	78512009	55339886	91	21859											
ACAD10	80724	broad.mit.edu	37	chr12	112194215	112194215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgagccctgcgctttgccGacggccctgacgaggtgcac	5	6	13	17	5	0	1	0	1	0	0	0	4	0	1	4	2	4	2	4	2	0	1	rs142030532	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr12:112194215G>A	ENST00000455480.2	+	22	3388	c.3211G>A	c.(3211-3213)Gac>Aac	p.D1071N	ACAD10_ENST00000313698.4_Missense_Mutation_p.D1040N|RP11-162P23.2_ENST00000546840.2_Intron	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	1040							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.D1040N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCGCTTTGCCGACGGCCCTGA	0.647													4	15					0	0	0	0	A	112194215	G	A	112194215	3	1	115	1	0	0	0	0	1	0	0	0	108	1058	37	1	3293	1	ACAD10	12	112194215	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	33682206	112194215	21657680	92	21860											
DHX37	57647	broad.mit.edu	37	chr12	125432554	125432554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaagccagggctgaccGtgcacaaagcacaaagcccc	12	3	10	16	1	0	1	0	1	0	0	0	1	0	1	5	1	5	3	5	1	3	0			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr12:125432554G>A	ENST00000544745.1	-	23	2934	c.2825C>T	c.(2824-2826)aCg>aTg	p.T942M	DHX37_ENST00000308736.2_Intron			Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	0							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGGGCTGACCGTGCACAAAGC	0.607													10	19					0	0	0	0	A	125432554	G	A	125432554	3	1	115	1	0	0	0	0	1	0	0	0	4547	1160	40	1		1	DHX37	12	125432554	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	13238339	125432554	8419341	93	21861											
FRY	10129	broad.mit.edu	37	chr13	32868533	32868533	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtccagggaactgagtgAcctaaagaaacacctgaagg	15	7	11	8	0	0	4	0	3	0	1	1	5	1	5	3	2	2	0	3	2	6	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr13:32868533A>T	ENST00000380250.3	+	60	9105	c.8609A>T	c.(8608-8610)gAc>gTc	p.D2870V	FRY_ENST00000542859.1_Missense_Mutation_p.D240V|FRY_ENST00000380217.1_Missense_Mutation_p.D52V	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAACTGAGTGACCTAAAGAAA	0.438													17	24					0	0	0	0	T	32868533	A	T	32868533	3	4	115	1	0	0	0	0	1	0	0	0	6111	275	10	5	8847	5	FRY	13	32868533	Missense_Mutation	SNP	A	TCGA-CN-A49A-01A-11D-A24D-08		32868533	82301345	94	21862											
POSTN	10631	broad.mit.edu	37	chr13	38171330	38171330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagacttacgttttctgtCcacagatggactttttatac	11	15	7	8	1	1	2	0	0	1	2	2	4	2	3	1	1	2	1	1	1	4	7			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr13:38171330C>A	ENST00000379747.4	-	2	326	c.209G>T	c.(208-210)gGa>gTa	p.G70V	POSTN_ENST00000379743.4_Missense_Mutation_p.G70V|POSTN_ENST00000379742.4_Missense_Mutation_p.G70V|POSTN_ENST00000541481.1_Missense_Mutation_p.G70V|POSTN_ENST00000541179.1_Missense_Mutation_p.G70V|POSTN_ENST00000379749.4_Missense_Mutation_p.G70V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	70	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CGTTTTCTGTCCACAGATGGA	0.388													7	13					0.0293803	0.0298542	1	0	A	38171330	C	A	38171330	3	1	115	1	0	0	0	0	1	0	0	0	12331	855	30	2	2389	2	POSTN	13	38171330	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	5302797	38171330	76998548	95	21863											
DAOA	267012	broad.mit.edu	37	chr13	106124954	106124954	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagagaaggcatgaggaCggctatttggaaatggcaca	14	7	15	5	1	0	2	0	1	0	1	0	6	0	5	0	6	0	3	0	6	4	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr13:106124954C>T	ENST00000375936.3	+	3	247	c.201C>T	c.(199-201)gaC>gaT	p.D67D	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_5'UTR	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	67						Golgi apparatus		p.D67D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GGCATGAGGACGGCTATTTGG	0.413													22	28					0	0	0	0	T	106124954	C	T	106124954	2	4	115	1	0	0	0	0	0	0	0	1	4265	536	19	1		1	DAOA	13	106124954	Silent	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	67953624	106124954	9044924	96	21864											
MMP14	4323	broad.mit.edu	37	chr14	23313973	23313973	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcccaatggaaagacctacTtcttccgtggaaacaagtaa	14	9	8	10	1	1	1	0	0	1	1	2	3	2	3	3	2	3	1	3	2	6	4			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:23313973T>G	ENST00000311852.6	+	8	1546	c.1285T>G	c.(1285-1287)Ttc>Gtc	p.F429V	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	429	Hemopexin-like 3.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		AAAGACCTACTTCTTCCGTGG	0.542													11	48					0	0	0	0	G	23313973	T	G	23313973	3	3	115	1	0	0	0	0	1	0	0	0	9722	1609	56	5	1315	5	MMP14	14	23313973	Missense_Mutation	SNP	T	TCGA-CN-A49A-01A-11D-A24D-08		23313973	84035567	97	21865											
PLEKHH1	57475	broad.mit.edu	37	chr14	68029424	68029424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctcagccctccacccctCtggccttcctgagctggagt	4	11	8	18	0	2	1	1	1	2	0	5	2	4	2	6	2	2	1	6	2	0	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:68029424C>G	ENST00000329153.5	+	7	1208	c.1076C>G	c.(1075-1077)tCt>tGt	p.S359C		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	359						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTCCACCCCTCTGGCCTTCCT	0.612													13	17					0	0	0	0	G	68029424	C	G	68029424	3	3	115	1	0	0	0	0	1	0	0	0	12148	913	32	2	1098	2	PLEKHH1	14	68029424	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	44715451	68029424	39320116	98	21866											
ZFYVE26	23503	broad.mit.edu	37	chr14	68249617	68249617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggccaccaaggattcctCaaaagcctcactcagtacat	12	9	6	14	0	4	0	3	0	1	0	5	1	5	1	4	2	2	1	4	2	4	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:68249617C>G	ENST00000347230.4	-	21	4390	c.4252G>C	c.(4252-4254)Gag>Cag	p.E1418Q	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1418Q	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1418					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AAGGATTCCTCAAAAGCCTCA	0.537													23	180					0	0	0	0	G	68249617	C	G	68249617	3	3	115	1	0	0	0	0	1	0	0	0	17763	835	29	2	3455	2	ZFYVE26	14	68249617	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	220193	68249617	39099923	99	21867											
ASB2	51676	broad.mit.edu	37	chr14	94405553	94405553	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgttgccgtagaggcatgaGaagcagggctcgccgtcgca	8	6	15	12	5	0	2	0	1	0	2	2	3	0	2	3	2	2	6	3	2	2	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:94405553G>A	ENST00000555019.1	-	8	1948	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	ASB2_ENST00000315988.4_Silent_p.F458F	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	458					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AGAGGCATGAGAAGCAGGGCT	0.697													5	53					0	0	0	0	A	94405553	G	A	94405553	2	1	115	1	0	0	0	0	0	0	0	1	1027	933	33	2		2	ASB2	14	94405553	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	26155936	94405553	12943987	100	21868											
ASB2	51676	broad.mit.edu	37	chr14	94405625	94405625	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcacttcatggcgaacatGatggtggcggggaaggcggt	9	7	18	7	3	1	1	1	1	0	0	1	3	1	2	0	8	1	1	0	8	2	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:94405625G>A	ENST00000555019.1	-	8	1876	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	ASB2_ENST00000315988.4_Silent_p.I434I	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	434					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGGCGAACATGATGGTGGCGG	0.657													12	105					0	0	0	0	A	94405625	G	A	94405625	2	1	115	1	0	0	0	0	0	0	0	1	1027	1280	45	2		2	ASB2	14	94405625	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	72	94405625	12943915	101	21869											
SERPINA3	12	broad.mit.edu	37	chr14	95085737	95085737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcctccctgatcaagacaaGatggaggaagtggaagccat	14	7	11	9	0	1	3	1	1	0	2	3	6	3	6	3	3	1	0	3	3	4	0			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:95085737G>C	ENST00000553947.1	+	6	1812	c.924G>C	c.(922-924)aaG>aaC	p.K308N	SERPINA3_ENST00000393078.3_Missense_Mutation_p.K283N|SERPINA3_ENST00000393080.4_Missense_Mutation_p.K283N|SERPINA3_ENST00000482740.1_Missense_Mutation_p.K65N|SERPINA3_ENST00000467132.1_Missense_Mutation_p.K283N|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	283					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATCAAGACAAGATGGAGGAAG	0.562													9	66					0	0	0	0	C	95085737	G	C	95085737	3	2	115	1	0	0	0	0	1	0	0	0	14177	933	33	2	855	2	SERPINA3	14	95085737	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	680112	95085737	12263803	102	21870											
JAG2	3714	broad.mit.edu	37	chr14	105615648	105615648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggcttggctcacaaaggtCgacatccacctgcagggtgg	8	7	15	11	1	1	0	1	0	0	0	3	1	2	0	2	6	1	3	2	6	1	1	rs9972231	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:105615648C>T	ENST00000331782.3	-	13	2015	c.1612G>A	c.(1612-1614)Gac>Aac	p.D538N	JAG2_ENST00000347004.2_Missense_Mutation_p.D500N	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	538	EGF-like 9.		D -> N (in dbSNP:rs9972231).		auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	p.D538N(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCACAAAGGTCGACATCCACC	0.622													5	103					0	0	0	0	T	105615648	C	T	105615648	3	4	115	1	0	0	0	0	1	0	0	0	7988	884	31	1	2160	1	JAG2	14	105615648	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	10529911	105615648	1733892	103	21871											
PAK6	56924	broad.mit.edu	37	chr15	40565664	40565664	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gactccatcctgctgaccctCgatggcagggtaggtcccat	7	9	11	14	1	0	1	0	1	0	0	4	3	3	1	4	3	1	3	4	3	1	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr15:40565664C>G	ENST00000455577.2	+	8	2520	c.1608C>G	c.(1606-1608)ctC>ctG	p.L536L	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Silent_p.L536L|PAK6_ENST00000542403.2_Silent_p.L536L|PAK6_ENST00000441369.1_Silent_p.L536L|PAK6_ENST00000453867.1_Silent_p.L536L|PAK6_ENST00000560346.1_Silent_p.L536L	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	536	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TGCTGACCCTCGATGGCAGGG	0.607													5	26					0	0	0	0	G	40565664	C	G	40565664	2	3	115	1	0	0	0	0	0	0	0	1	11475	871	31	3		3	PAK6	15	40565664	Silent	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08		40565664	61965728	104	21872											
DIS3L	115752	broad.mit.edu	37	chr15	66601094	66601094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatcatcactgccaggacaGgatgccaattgttatggtga	11	11	10	9	0	2	1	2	1	0	0	2	3	2	3	2	3	2	1	2	3	3	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr15:66601094G>A	ENST00000319194.5	+	4	482	c.221G>A	c.(220-222)aGg>aAg	p.R74K	DIS3L_ENST00000441424.2_Missense_Mutation_p.R23K|DIS3L_ENST00000319212.4_Missense_Mutation_p.R157K	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	157					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			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						TGCCAGGACAGGATGCCAATT	0.448													19	85					0	0	0	0	A	66601094	G	A	66601094	3	1	115	1	0	0	0	0	1	0	0	0	4573	1000	35	4	484	4	DIS3L	15	66601094	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	26035430	66601094	35930298	105	21873											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1817212	1817212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacccgcaccactccatcCgctgcatggctgttgtgtac	6	9	9	17	2	0	0	0	0	0	0	2	0	2	0	5	1	2	6	5	1	1	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr16:1817212C>T	ENST00000250894.4	+	26	3305	c.3148C>T	c.(3148-3150)Cgc>Tgc	p.R1050C	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R1044C	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1050					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|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						CCACTCCATCCGCTGCATGGC	0.617													34	59					0	0	0	0	T	1817212	C	T	1817212	3	4	115	1	0	0	0	0	1	0	0	0	9355	652	23	1	3266	1	MAPK8IP3	16	1817212	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08		1817212	88537541	106	21874											
ZCCHC14	23174	broad.mit.edu	37	chr16	87454250	87454250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacgtggtttcgctccaCataaaatgcgtccggaccag	10	9	9	13	4	0	0	0	0	0	0	4	1	3	1	4	2	1	2	4	2	2	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr16:87454250C>T	ENST00000268616.4	-	5	719	c.502G>A	c.(502-504)Gtg>Atg	p.V168M		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	168					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTTCGCTCCACATAAAATGCG	0.562													9	12					0	0	0	0	T	87454250	C	T	87454250	3	4	115	1	0	0	0	0	1	0	0	0	17678	478	17	4	2383	4	ZCCHC14	16	87454250	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	85637038	87454250	2900503	107	21875											
SRR	63826	broad.mit.edu	37	chr17	2218973	2218973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgaatcaactaacagggcGcaatcttttcttcaaatgtg	12	14	7	8	1	4	1	2	1	2	0	4	1	4	1	0	1	2	1	0	1	5	5			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:2218973G>A	ENST00000344595.5	+	2	437	c.119G>A	c.(118-120)cGc>cAc	p.R40H	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	40					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CTAACAGGGCGCAATCTTTTC	0.378													33	35					0	0	0	0	A	2218973	G	A	2218973	3	1	115	1	0	0	0	0	1	0	0	0	15256	1087	38	1	121	1	SRR	17	2218973	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08		2218973	78976237	108	21876											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	11					0	0	0	0	A	7577121	G	A	7577121	3	1	115	1	0	0	0	0	1	0	0	0	16476	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	5358148	7577121	73618089	109	21877											
MED1	5469	broad.mit.edu	37	chr17	37596727	37596727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatagaacatatctgacGtgatgtaacattcagtgcca	14	10	7	10	1	2	3	1	2	1	1	2	3	2	3	2	0	3	1	2	0	4	4			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:37596727G>C	ENST00000300651.6	-	5	534	c.311C>G	c.(310-312)aCg>aGg	p.T104R	MED1_ENST00000394287.3_Missense_Mutation_p.T104R	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	104	Interaction with ESR1.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CATATCTGACGTGATGTAACA	0.428										HNSCC(31;0.082)			26	90					0	0	0	0	C	37596727	G	C	37596727	3	2	115	1	0	0	0	0	1	0	0	0	9494	1145	40	3	4486	3	MED1	17	37596727	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	30019606	37596727	43598483	110	21878											
BRIP1	83990	broad.mit.edu	37	chr17	59857704	59857704	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgaaaaggatttcattggtGataatgtaccagatgtcaaa	16	11	9	5	1	2	2	2	1	0	1	2	4	2	3	1	2	1	1	1	2	5	4			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:59857704G>C	ENST00000259008.2	-	13	2120	c.1853C>G	c.(1852-1854)tCa>tGa	p.S618*	BRIP1_ENST00000577598.1_Nonsense_Mutation_p.S618*	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	618					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTCATTGGTGATAATGTACC	0.303			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					15	40					0	0	0	0	C	59857704	G	C	59857704	4	2	115	1	0	0	0	0	0	1	0	0	1522	1294	45	2	1928	2	BRIP1	17	59857704	Nonsense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	22260977	59857704	21337506	111	21879											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282259	71282259	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttactggtgcccttctccgcGgcctccttctcattgagctg	3	14	9	15	2	2	1	1	1	2	0	5	1	3	1	4	2	3	1	4	2	1	4	rs150501422	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:71282259G>A	ENST00000335793.3	-	2	775	c.381C>T	c.(379-381)gcC>gcT	p.A127A	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.A57A			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	127					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCTTCTCCGCGGCCTCCTTCT	0.662													20	24					0	0	0	0	A	71282259	G	A	71282259	2	1	115	1	0	0	0	0	0	0	0	1	3107	1103	39	1		1	CDC42EP4	17	71282259	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	11424555	71282259	9912951	112	21880											
SEC14L1	6397	broad.mit.edu	37	chr17	75187292	75187292	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgattatgtttattttgtCcagaaaaactcactgaattc	12	17	6	6	0	1	3	1	2	0	1	3	3	2	3	1	0	1	2	1	0	5	7			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:75187292C>T	ENST00000413679.2	+	5	546	c.243C>T	c.(241-243)gtC>gtT	p.V81V	SEC14L1_ENST00000591437.1_Silent_p.V47V|SEC14L1_ENST00000392476.2_Silent_p.V81V|SEC14L1_ENST00000431431.2_Silent_p.V47V|SEC14L1_ENST00000430767.4_Silent_p.V81V|SEC14L1_ENST00000443798.4_Silent_p.V81V|SEC14L1_ENST00000436233.4_Silent_p.V81V|SEC14L1_ENST00000585618.1_Silent_p.V81V	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	81	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TTTATTTTGTCCAGAAAAACT	0.338													27	59					0	0	0	0	T	75187292	C	T	75187292	2	4	115	1	0	0	0	0	0	0	0	1	14068	842	30	2		2	SEC14L1	17	75187292	Silent	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	3905033	75187292	6007918	113	21881											
AZI1	22994	broad.mit.edu	37	chr17	79165012	79165012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggctctcggcagccttctCactctcctccttggccagcg	3	10	9	19	3	3	0	1	0	3	0	7	0	4	0	5	3	2	2	5	3	0	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:79165012C>T	ENST00000269392.4	-	22	3002	c.2755G>A	c.(2755-2757)Gag>Aag	p.E919K	AZI1_ENST00000374782.3_Missense_Mutation_p.E880K|AZI1_ENST00000575907.1_Missense_Mutation_p.E883K|AZI1_ENST00000450824.2_Missense_Mutation_p.E916K	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	919					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCAGCCTTCTCACTCTCCTCC	0.642													11	64					0	0	0	0	T	79165012	C	T	79165012	3	4	115	1	0	0	0	0	1	0	0	0	1244	835	29	2	516	2	AZI1	17	79165012	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	3977720	79165012	2030198	114	21882											
LAMA3	3909	broad.mit.edu	37	chr18	21331018	21331018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcttcttggacacctcatctCcaaagcccagcgagatccaa	11	8	7	15	1	3	1	1	0	2	1	5	3	4	2	4	1	2	1	4	1	2	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr18:21331018C>G	ENST00000313654.9	+	5	1062	c.821C>G	c.(820-822)tCc>tGc	p.S274C	LAMA3_ENST00000399516.3_Missense_Mutation_p.S274C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	274	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCTCATCTCCAAAGCCCAG	0.408													37	40					0	0	0	0	G	21331018	C	G	21331018	3	3	115	1	0	0	0	0	1	0	0	0	8660	855	30	2	839	2	LAMA3	18	21331018	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08		21331018	56746230	115	21883											
SS18	6760	broad.mit.edu	37	chr18	23619301	23619302	+	Frame_Shift_Del	DEL	GA	GA	-																															ctgtctctgacccatcatatGattgccttggttaacttgac																										TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr18:23619301_23619302delGA	ENST00000415083.2	-	6	781_782	c.726_727delTC	c.(724-729)aaatfs	p.NH242fs	SS18_ENST00000539849.1_Frame_Shift_Del_p.NH160fs|SS18_ENST00000269137.7_Frame_Shift_Del_p.NH242fs|SS18_ENST00000545952.1_Frame_Shift_Del_p.NH190fs|SS18_ENST00000542743.1_Frame_Shift_Del_p.NH190fs|SS18_ENST00000542420.2_Frame_Shift_Del_p.NH219fs	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	242	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					CCCATCATATGATTGCCTTGGT	0.441			T	"SSX1,  SSX2"	synovial sarcoma								60	111	---	---	---	---					-	23619302	GA	-	23619301	7	5	115	1	0	1	0	1	0	0	0	0	15265	1290	45	0	553	0	SS18	18	23619301	Frame_Shift_Del	DEL	GA	TCGA-CN-A49A-01A-11D-A24D-08	2288283	23619301	54457947	116	21884											
MAPRE2	10982	broad.mit.edu	37	chr18	32650271	32650271	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttaaactacacaaaagtgGaacagctttgttcaggtaag	15	11	8	7	0	1	0	1	0	0	0	1	1	1	1	0	2	4	3	0	2	7	6			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr18:32650271G>T	ENST00000436190.2	+	3	473	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	MAPRE2_ENST00000588910.1_Nonsense_Mutation_p.E79*|MAPRE2_ENST00000300249.5_Nonsense_Mutation_p.E79*|MAPRE2_ENST00000538170.2_Intron|MAPRE2_ENST00000589699.1_Nonsense_Mutation_p.E36*|MAPRE2_ENST00000413393.1_Nonsense_Mutation_p.E36*	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	79	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CACAAAAGTGGAACAGCTTTG	0.353													7	43					2.0095e-06	2.14573e-06	1	0	T	32650271	G	T	32650271	4	4	115	1	0	0	0	0	0	1	0	0	9364	1175	41	2	335	2	MAPRE2	18	32650271	Nonsense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	9030970	32650271	45426977	117	21885											
SETBP1	26040	broad.mit.edu	37	chr18	42529917	42529917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggacttcaccggtgaCaccttaaaaccaaagcacca	15	5	6	15	1	1	1	1	1	0	0	1	2	1	2	5	2	2	1	5	2	3	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr18:42529917C>A	ENST00000282030.5	+	4	908	c.612C>A	c.(610-612)gaC>gaA	p.D204E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	204						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCACCGGTGACACCTTAAAAC	0.537									Schinzel-Giedion syndrome				22	31					1.2644e-06	1.3578e-06	1	0	A	42529917	C	A	42529917	3	1	115	1	0	0	0	0	1	0	0	0	14216	477	17	4	815	4	SETBP1	18	42529917	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	9879646	42529917	35547331	118	21886											
MUC16	94025	broad.mit.edu	37	chr19	9059813	9059813	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgacttcagtgatggcCagtatttcagctgaggtgct	8	13	13	7	0	2	3	2	3	0	0	2	3	2	3	1	2	2	4	1	2	2	4			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:9059813C>A	ENST00000397910.4	-	3	27836	c.27633G>T	c.(27631-27633)ctG>ctT	p.L9211L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9213	Ser-rich.|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						CAGTGATGGCCAGTATTTCAG	0.488													4	56					2.74837e-29	3.22635e-29	1	0	A	9059813	C	A	9059813	2	1	115	1	0	0	0	0	0	0	0	1	10043	581	21	4		4	MUC16	19	9059813	Silent	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08		9059813	50069170	119	21887											
MUC16	94025	broad.mit.edu	37	chr19	9088537	9088537	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtccttcctggagtgcttGagccagcagcatccatggac	7	11	11	12	0	0	1	0	1	0	0	3	3	3	3	4	2	4	3	4	2	0	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:9088537G>C	ENST00000397910.4	-	1	3481	c.3278C>G	c.(3277-3279)tCa>tGa	p.S1093*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1093	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						TGGAGTGCTTGAGCCAGCAGC	0.433													13	48					0	0	0	0	C	9088537	G	C	9088537	4	2	115	1	0	0	0	0	0	1	0	0	10043	1294	45	2	40581	2	MUC16	19	9088537	Nonsense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	28724	9088537	50040446	120	21888											
FKBP8	23770	broad.mit.edu	37	chr19	18649113	18649113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctggtagtgggcgttgcCgcactcccgcttccggttgg	2	10	15	14	5	0	0	0	0	0	0	2	0	2	0	4	4	1	6	4	4	1	4			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:18649113C>T	ENST00000597960.2	-	5	805	c.685G>A	c.(685-687)Ggc>Agc	p.G229S	FKBP8_ENST00000596558.1_Missense_Mutation_p.G228S|FKBP8_ENST00000222308.3_Missense_Mutation_p.G229S|FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000453489.2_Missense_Mutation_p.G257S			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	228					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGGGCGTTGCCGCACTCCCGC	0.682													14	34					0	0	0	0	T	18649113	C	T	18649113	3	4	115	1	0	0	0	0	1	0	0	0	5959	652	23	1	576	1	FKBP8	19	18649113	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	9560576	18649113	40479870	121	21889											
ZNF599	148103	broad.mit.edu	37	chr19	35250735	35250735	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcatatgttgagcaaatgagGagctgtagtaaaaagctttc	14	12	10	5	0	1	2	1	2	0	0	2	3	1	3	0	1	3	6	0	1	6	5			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:35250735G>C	ENST00000329285.7	-	4	1344	c.971C>G	c.(970-972)tCc>tGc	p.S324C		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGCAAATGAGGAGCTGTAGTA	0.433													18	34					0	0	0	0	C	35250735	G	C	35250735	3	2	115	1	0	0	0	0	1	0	0	0	18124	1174	41	2	799	2	ZNF599	19	35250735	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	16601622	35250735	23878248	122	21890											
ZNF233	353355	broad.mit.edu	37	chr19	44768478	44768478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccagttctgccttccCaggaccctgcccttccccag	4	12	6	19	0	1	0	0	0	1	0	4	1	4	1	7	1	2	1	7	1	0	5			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:44768478C>A	ENST00000334152.1	+	3	274	c.274C>A	c.(274-276)Cag>Aag	p.Q92K	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_5'UTR|ZNF233_ENST00000589522.1_5'UTR|ZNF233_ENST00000391958.2_5'UTR			A6NK53	ZN233_HUMAN	zinc finger protein 233	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TCTGCCTTCCCAGGACCCTGC	0.478													10	21					0.010729	0.010961	1	0	A	44768478	C	A	44768478	3	1	115	1	0	0	0	0	1	0	0	0	17881	609	21	4		4	ZNF233	19	44768478	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	9517743	44768478	14360505	123	21891											
PRR12	57479	broad.mit.edu	37	chr19	50098372	50098372	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgctgccgagcaGtcctccccacagctctataa	7	6	9	19	4	1	0	0	0	1	0	3	1	3	0	7	0	3	3	7	0	2	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:50098372G>A	ENST00000418929.2	+	4	792	c.780G>A	c.(778-780)caG>caA	p.Q260Q		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	46	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)		CTGCCGAGCAGTCCTCCCCAC	0.692													4	9					0	0	0	0	A	50098372	G	A	50098372	2	1	115	1	0	0	0	0	0	0	0	1	12664	1020	36	4		4	PRR12	19	50098372	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	5329894	50098372	9030611	124	21892											
MYH14	79784	broad.mit.edu	37	chr19	50726572	50726572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacctcgcccacgtggcgtCgtctccaaagggcaggaagg	8	6	14	13	4	1	0	0	0	1	0	4	1	1	1	3	4	1	2	3	4	3	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:50726572C>T	ENST00000440075.2	+	5	706	c.659C>T	c.(658-660)tCg>tTg	p.S220L	MYH14_ENST00000601313.1_Missense_Mutation_p.S220L|MYH14_ENST00000598205.1_Missense_Mutation_p.S220L|MYH14_ENST00000596571.1_Missense_Mutation_p.S220L|MYH14_ENST00000425460.1_Missense_Mutation_p.S220L|MYH14_ENST00000376970.2_Missense_Mutation_p.S220L|MYH14_ENST00000262269.8_Missense_Mutation_p.S220L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	220	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CACGTGGCGTCGTCTCCAAAG	0.622													2	4					0	0	0	0	T	50726572	C	T	50726572	3	4	115	1	0	0	0	0	1	0	0	0	10103	893	31	1	673	1	MYH14	19	50726572	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	628200	50726572	8402411	125	21893											
LILRA6	79168	broad.mit.edu	37	chr19	54744756	54744756	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggccgaccactcggaggaGaggttgtgtgcaccatagca	9	6	16	10	2	0	1	0	0	0	1	1	4	0	2	3	5	2	3	3	5	1	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:54744756G>A	ENST00000440558.2	-	5	954	c.906C>T	c.(904-906)ctC>ctT	p.L302L	LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Silent_p.L302L|LILRA6_ENST00000419410.2_Silent_p.L302L|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000396365.2_Silent_p.L302L|LILRB3_ENST00000407860.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACTCGGAGGAGAGGTTGTGTG	0.682													7	89					0	0	0	0	A	54744756	G	A	54744756	2	1	115	1	0	0	0	0	0	0	0	1	8843	929	33	2		2	LILRA6	19	54744756	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	4018184	54744756	4384227	126	21894											
LILRA2	11027	broad.mit.edu	37	chr19	55087014	55087014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccccctggacatcctgaTcacaggtgaggagcccagcg	9	6	12	14	1	1	3	1	3	0	0	2	5	2	5	4	3	2	0	4	3	0	0			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:55087014T>C	ENST00000251377.3	+	6	1080	c.947T>C	c.(946-948)aTc>aCc	p.I316T	LILRA2_ENST00000391737.1_Missense_Mutation_p.I304T|LILRA2_ENST00000391738.3_Missense_Mutation_p.I316T|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.I316T|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GACATCCTGATCACAGGTGAG	0.667													5	25					0	0	0	0	C	55087014	T	C	55087014	3	2	115	1	0	0	0	0	1	0	0	0	8839	1435	50	5	965	5	LILRA2	19	55087014	Missense_Mutation	SNP	T	TCGA-CN-A49A-01A-11D-A24D-08	342258	55087014	4041969	127	21895											
ZNF132	7691	broad.mit.edu	37	chr19	58944775	58944775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacactcataagtcctttctCtggtgtgaactttctggtgc	7	16	8	10	0	3	1	1	1	2	0	5	1	4	1	1	2	3	0	1	2	3	4	rs149025551	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:58944775C>T	ENST00000254166.3	-	3	2436	c.2036G>A	c.(2035-2037)aGa>aAa	p.R679K		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	679						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		AGTCCTTTCTCTGGTGTGAAC	0.448													14	54					0	0	0	0	T	58944775	C	T	58944775	3	4	115	1	0	0	0	0	1	0	0	0	17817	913	32	2	88	2	ZNF132	19	58944775	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08	3857761	58944775	184208	128	21896											
PRND	23627	broad.mit.edu	37	chr20	4705459	4705459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actactggcagttccccgatGgcatccactacaacggctgc	9	8	9	15	2	0	0	0	0	0	0	2	1	2	0	3	3	4	4	3	3	3	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr20:4705459G>A	ENST00000305817.2	+	2	333	c.262G>A	c.(262-264)Ggc>Agc	p.G88S		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	88	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GTTCCCCGATGGCATCCACTA	0.602													9	28					0	0	0	0	A	4705459	G	A	4705459	3	1	115	1	0	0	0	0	1	0	0	0	12623	1348	47	4	264	4	PRND	20	4705459	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08		4705459	58320061	129	21897											
JAG1	182	broad.mit.edu	37	chr20	10632825	10632825	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagggcaggaacactgAtatttgtcagggcctgtgtt	8	11	12	10	0	2	1	2	1	0	0	2	2	2	2	2	3	1	2	2	3	2	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr20:10632825A>G	ENST00000254958.5	-	7	1475	c.960T>C	c.(958-960)taT>taC	p.Y320Y	JAG1_ENST00000423891.2_Silent_p.Y161Y	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	320	EGF-like 3.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGGAACACTGATATTTGTCAG	0.468									Alagille Syndrome				12	41					0	0	0	0	G	10632825	A	G	10632825	2	3	115	1	0	0	0	0	0	0	0	1	7987	340	12	5		5	JAG1	20	10632825	Silent	SNP	A	TCGA-CN-A49A-01A-11D-A24D-08	5927366	10632825	52392695	130	21898											
RALGAPA2	57186	broad.mit.edu	37	chr20	20453484	20453484	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagatacaagctctggtaGagtgggatgaggcacttcac	14	8	12	7	0	2	3	1	1	1	2	2	4	2	4	0	3	2	3	0	3	5	3			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr20:20453484G>C	ENST00000202677.6	-	37	5626	c.5484C>G	c.(5482-5484)ctC>ctG	p.L1828L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1828	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AGCTCTGGTAGAGTGGGATGA	0.453													3	18					0	0	0	0	C	20453484	G	C	20453484	2	2	115	1	0	0	0	0	0	0	0	1	13096	929	33	2		2	RALGAPA2	20	20453484	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	9820659	20453484	42572036	131	21899											
MX1	4599	broad.mit.edu	37	chr21	42813654	42813654	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcgcaggaatcttgacgAagcctgatctggtggacaaa	11	8	13	9	2	2	2	0	2	2	0	3	5	2	4	1	4	1	2	1	4	3	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr21:42813654A>C	ENST00000398600.2	+	12	1767	c.742A>C	c.(742-744)Aag>Cag	p.K248Q	MX1_ENST00000288383.6_Missense_Mutation_p.K225Q|AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000398598.3_Missense_Mutation_p.K248Q|MX1_ENST00000455164.2_Missense_Mutation_p.K248Q	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	248					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AATCTTGACGAAGCCTGATCT	0.557													30	52					0	0	0	0	C	42813654	A	C	42813654	3	2	115	1	0	0	0	0	1	0	0	0	10067	247	9	5	764	5	MX1	21	42813654	Missense_Mutation	SNP	A	TCGA-CN-A49A-01A-11D-A24D-08		42813654	5316241	132	21900											
PPP2R3B	28227	broad.mit.edu	37	chrX	322205	322205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaccgggcgaaggtgctctCgatcttgctgatgacggcat	8	9	14	10	4	2	2	0	2	2	0	3	5	2	2	1	3	3	3	1	3	2	1			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chrX:322205C>T	ENST00000390665.3	-	2	463	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	149					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGGTGCTCTCGATCTTGCTG	0.652													15	19					0	0	0	0	T	322205	C	T	322205	3	4	115	1	0	0	0	0	1	0	0	0	12465	893	31	1	1330	1	PPP2R3B	23	322205	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08		322205	154948355	133	21901											
BRWD3	254065	broad.mit.edu	37	chrX	79932685	79932685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tactttcagaacttaaactgGatcctaactctccactctct	11	14	3	13	0	3	1	1	0	2	1	6	2	4	2	2	1	4	0	2	1	5	4			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chrX:79932685G>A	ENST00000373275.4	-	41	5048	c.4832C>T	c.(4831-4833)tCc>tTc	p.S1611F		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1611										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACTTAAACTGGATCCTAACTC	0.383													18	68					0	0	0	0	A	79932685	G	A	79932685	3	1	115	1	0	0	0	0	1	0	0	0	1534	1174	41	2	580	2	BRWD3	23	79932685	Missense_Mutation	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	79610480	79932685	75337875	134	21902											
NRK	203447	broad.mit.edu	37	chrX	105153550	105153550	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attggctcagttcaagcactGatagagggactatcaagaga	14	9	11	7	0	3	3	3	1	0	2	3	5	3	4	0	2	1	3	0	2	4	4			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chrX:105153550G>A	ENST00000428173.2	+	13	2223	c.1920G>A	c.(1918-1920)ctG>ctA	p.L640L	NRK_ENST00000243300.9_Silent_p.L639L			Q7Z2Y5	NRK_HUMAN	Nik related kinase	639							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTCAAGCACTGATAGAGGGAC	0.488										HNSCC(51;0.14)			6	7					0	0	0	0	A	105153550	G	A	105153550	2	1	115	1	0	0	0	0	0	0	0	1	10726	1277	45	2		2	NRK	23	105153550	Silent	SNP	G	TCGA-CN-A49A-01A-11D-A24D-08	25220865	105153550	50117010	135	21903											
PCDH11Y	83259	broad.mit.edu	37	chrY	5605924	5605924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacaaccttcgctccaCgccaacaggccagaccgtcc	9	7	7	18	3	0	2	0	1	0	1	3	2	2	2	6	1	2	1	6	1	2	2			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chrY:5605924C>T	ENST00000215473.6	+	6	3964	c.3964C>T	c.(3964-3966)Cgc>Tgc	p.R1322C				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1322					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTTCGCTCCACGCCAACAGGC	0.408													3	31					0	0	0	0	T	5605924	C	T	5605924	3	4	115	1	0	0	0	0	1	0	0	0	11580	536	19	1	4040	1	PCDH11Y	24	5605924	Missense_Mutation	SNP	C	TCGA-CN-A49A-01A-11D-A24D-08		5605924	53767642	136	21904											
SPEN	23013	broad.mit.edu	37	chr1	16258578	16258578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcggttcccaccacccCtcggaggggaaggcctccaa	8	5	12	16	2	0	0	0	0	0	0	3	2	2	2	6	5	2	2	6	5	2	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:16258578C>T	ENST00000375759.3	+	11	6047	c.5843C>T	c.(5842-5844)cCt>cTt	p.P1948L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1948					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCACCACCCCTCGGAGGGGA	0.592													35	50					0	0	0	0	T	16258578	C	T	16258578	3	4	116	1	0	0	0	0	1	0	0	0	15128	681	24	4	5885	4	SPEN	1	16258578	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08		16258578	232992043	1	21905											
RCAN3	11123	broad.mit.edu	37	chr1	24859680	24859680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccccggtggggtggaagcaGagcgaagatgcgatgcctgt	8	6	17	10	3	0	2	0	0	0	2	0	5	0	3	3	4	4	1	3	4	2	0			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:24859680G>C	ENST00000374395.4	+	4	790	c.477G>C	c.(475-477)caG>caC	p.Q159H	RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000538532.1_Missense_Mutation_p.Q101H|RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000436717.2_Missense_Mutation_p.Q149H	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	159					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GGTGGAAGCAGAGCGAAGATG	0.507													16	25					0	0	0	0	C	24859680	G	C	24859680	3	2	116	1	0	0	0	0	1	0	0	0	13252	933	33	2	487	2	RCAN3	1	24859680	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	8601102	24859680	224390941	2	21906											
RPS6KA1	6195	broad.mit.edu	37	chr1	26888134	26888134	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acaccattggcaaaactgtgGagtatctgcactcacagggg	12	8	11	10	0	2	0	1	0	1	0	2	1	2	1	1	4	2	3	1	4	3	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:26888134G>C	ENST00000374168.2	+	17	1724	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q	RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E432Q|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E508Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E513Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E432Q|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E533Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	524	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CAAAACTGTGGAGTATCTGCA	0.582													6	69					0	0	0	0	C	26888134	G	C	26888134	3	2	116	1	0	0	0	0	1	0	0	0	13735	1175	41	2	1775	2	RPS6KA1	1	26888134	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	2028454	26888134	222362487	3	21907											
ZMYM6	9204	broad.mit.edu	37	chr1	35485180	35485180	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgatgcaaaagaaagctGaaagcctgggttcaactgct	15	8	11	7	0	1	4	1	2	0	2	1	4	1	4	1	1	5	4	1	1	5	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:35485180G>A	ENST00000357182.4	-	4	429	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000317538.5_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000373333.1_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000493328.1_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	68					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAAGAAAGCTGAAAGCCTGGG	0.368													16	19					0	0	0	0	A	35485180	G	A	35485180	4	1	116	1	0	0	0	0	0	1	0	0	17799	1299	45	2	3827	2	ZMYM6	1	35485180	Nonsense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	8597046	35485180	213765441	4	21908											
CDCA8	55143	broad.mit.edu	37	chr1	38158641	38158641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaaggaggtggataacctCtacaacatcgagatcctgcg	12	8	10	11	2	2	1	1	0	1	1	4	4	3	3	2	3	4	0	2	3	4	2	rs142159015		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:38158641C>T	ENST00000373055.1	+	2	432	c.159C>T	c.(157-159)ctC>ctT	p.L53L	CDCA8_ENST00000327331.2_Silent_p.L53L	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	53	Required for centromere localization.|Required for interaction with INCENP and BIRC5.|Required for interaction with INCENP.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGATAACCTCTACAACATCG	0.577													6	53					0	0	0	0	T	38158641	C	T	38158641	2	4	116	1	0	0	0	0	0	0	0	1	3121	900	32	2		2	CDCA8	1	38158641	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	2673461	38158641	211091980	5	21909											
PAPPA2	60676	broad.mit.edu	37	chr1	176668475	176668475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaaggagtcagtgcacCtgggccccttagacactttc	12	8	9	12	0	1	1	1	0	0	1	2	2	1	2	3	2	2	1	3	2	4	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:176668475C>T	ENST00000367662.3	+	8	4150	c.2986C>T	c.(2986-2988)Ctg>Ttg	p.L996L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	996					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTCAGTGCACCTGGGCCCCTT	0.532													76	138					0	0	0	0	T	176668475	C	T	176668475	2	4	116	1	0	0	0	0	0	0	0	1	11504	680	24	4		4	PAPPA2	1	176668475	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	138509834	176668475	72582146	6	21910											
KCNT2	343450	broad.mit.edu	37	chr1	196309663	196309663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcagcaaaatgtttttatTatcctccctcctaacaccaa	13	14	2	12	0	1	0	1	0	0	0	4	0	4	0	4	0	2	2	4	0	6	6			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:196309663T>C	ENST00000367433.5	-	16	1692	c.1591A>G	c.(1591-1593)Aat>Gat	p.N531D	KCNT2_ENST00000451324.2_Missense_Mutation_p.N142D|KCNT2_ENST00000367431.4_Missense_Mutation_p.N481D|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.N531D			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	531	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATGTTTTTATTATCCTCCCTC	0.303													12	59					0	0	0	0	C	196309663	T	C	196309663	3	2	116	1	0	0	0	0	1	0	0	0	8145	1754	61	5	1868	5	KCNT2	1	196309663	Missense_Mutation	SNP	T	TCGA-CN-A49B-01A-31D-A24D-08	19641188	196309663	52940958	7	21911											
IRF6	3664	broad.mit.edu	37	chr1	209968692	209968692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacatggtgctgcgactgatCcagctcatcttcctcatctt	8	13	7	13	1	4	1	2	1	2	0	6	2	6	1	2	1	4	2	2	1	1	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:209968692C>T	ENST00000367021.3	-	5	623	c.451G>A	c.(451-453)Gat>Aat	p.D151N	IRF6_ENST00000542854.1_Missense_Mutation_p.D56N	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	151					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGCGACTGATCCAGCTCATCT	0.512										HNSCC(57;0.16)			27	85					0	0	0	0	T	209968692	C	T	209968692	3	4	116	1	0	0	0	0	1	0	0	0	7887	855	30	2	972	2	IRF6	1	209968692	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	13659029	209968692	39281929	8	21912											
ASAP2	8853	broad.mit.edu	37	chr2	9463337	9463337	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagcggaaattgccgaagaGatggaaaaggagaggcgctt	14	5	17	5	3	0	2	0	0	0	2	0	8	0	5	1	5	2	1	1	5	4	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:9463337G>C	ENST00000281419.3	+	6	898	c.558G>C	c.(556-558)gaG>gaC	p.E186D	ASAP2_ENST00000315273.4_Missense_Mutation_p.E186D	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	186					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TTGCCGAAGAGATGGAAAAGG	0.537													34	107					0	0	0	0	C	9463337	G	C	9463337	3	2	116	1	0	0	0	0	1	0	0	0	1015	933	33	2	580	2	ASAP2	2	9463337	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08		9463337	233736036	9	21913											
ADAM17	6868	broad.mit.edu	37	chr2	9668007	9668007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttggagactgcaaacgtGaaacattcttgatatcttca	12	14	7	8	1	3	3	1	2	2	1	3	4	3	3	0	1	3	1	0	1	3	6			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:9668007G>A	ENST00000310823.3	-	5	709	c.527C>T	c.(526-528)tCa>tTa	p.S176L	ADAM17_ENST00000497134.1_Missense_Mutation_p.S176L	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	176					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTGCAAACGTGAAACATTCTT	0.343													24	35					0	0	0	0	A	9668007	G	A	9668007	3	1	116	1	0	0	0	0	1	0	0	0	238	1294	45	2	2007	2	ADAM17	2	9668007	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	204670	9668007	233531366	10	21914											
GEN1	348654	broad.mit.edu	37	chr2	17962391	17962391	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactgtcctgtgaatcagaaAggtacactgcaaacataaag	17	8	8	8	0	1	2	1	1	0	1	2	2	2	2	1	1	4	2	1	1	7	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:17962391A>G	ENST00000381254.2	+	14	2126	c.1912A>G	c.(1912-1914)Agg>Ggg	p.R638G	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.R638G	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	638					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGAATCAGAAAGGTACACTGC	0.383								Homologous recombination					11	48					0	0	0	0	G	17962391	A	G	17962391	3	3	116	1	0	0	0	0	1	0	0	0	6386	63	3	5	1962	5	GEN1	2	17962391	Missense_Mutation	SNP	A	TCGA-CN-A49B-01A-31D-A24D-08	8294384	17962391	225236982	11	21915											
STON1	11037	broad.mit.edu	37	chr2	48809319	48809319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccggtttgagctgatgcGtttcaagactttgtataatg	8	15	11	7	2	1	3	1	2	0	1	1	3	1	3	1	1	3	4	1	1	3	5	rs150634127	by1000genomes	TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:48809319G>A	ENST00000309835.3	+	1	1557	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H	STON1_ENST00000406226.1_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R516H|STON1_ENST00000404752.1_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R516H					stonin 1									p.R516H(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGCTGATGCGTTTCAAGACT	0.413													5	89					0	0	0	0	A	48809319	G	A	48809319	3	1	116	1	0	0	0	0	1	0	0	0	15406	1145	40	1	1549	1	STON1	2	48809319	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	30846928	48809319	194390054	12	21916											
COBLL1	22837	broad.mit.edu	37	chr2	165552193	165552193	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtaacttatagcagtatcaGtttcatgtgcctcagagttt	10	16	8	7	0	3	1	3	0	0	1	3	1	3	1	1	0	3	5	1	0	4	6			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:165552193G>C	ENST00000375458.2	-	11	1930	c.1709C>G	c.(1708-1710)aCt>aGt	p.T570S	COBLL1_ENST00000392717.2_Missense_Mutation_p.T646S|COBLL1_ENST00000342193.4_Missense_Mutation_p.T608S|COBLL1_ENST00000194871.6_Missense_Mutation_p.T675S|COBLL1_ENST00000409184.3_Missense_Mutation_p.T608S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	646										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGCAGTATCAGTTTCATGTGC	0.378													71	196					0	0	0	0	C	165552193	G	C	165552193	3	2	116	1	0	0	0	0	1	0	0	0	3684	1029	36	4	1689	4	COBLL1	2	165552193	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	116742874	165552193	77647180	13	21917											
HNRNPA3	220988	broad.mit.edu	37	chr2	178084017	178084017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtggtggatatggtagcaGaaggttctaaaaacagcaga	16	8	13	4	0	1	2	0	0	1	2	1	3	1	3	0	4	3	4	0	4	7	4			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:178084017G>A	ENST00000411529.2	+	10	1112	c.1061G>A	c.(1060-1062)aGa>aAa	p.R354K	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.R376K|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.R376K	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	376	Gly-rich.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						TATGGTAGCAGAAGGTTCTAA	0.299													9	37					0	0	0	0	A	178084017	G	A	178084017	3	1	116	1	0	0	0	0	1	0	0	0	7310	942	33	2	1165	2	HNRNPA3	2	178084017	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	12531824	178084017	65115356	14	21918											
TTN	7273	broad.mit.edu	37	chr2	179611294	179611294	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggtggtagtgccaccactCtttcttcctggggcattatg	6	13	12	10	0	2	0	0	0	2	0	3	1	3	0	3	4	1	2	3	4	2	4			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:179611294C>G	ENST00000360870.5	-	46	16055	c.15833G>C	c.(15832-15834)aGa>aCa	p.R5278T	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8797	Ig-like 33.						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)			TGCCACCACTCTTTCTTCCTG	0.438													21	52					0	0	0	0	G	179611294	C	G	179611294	3	3	116	1	0	0	0	0	1	0	0	0	16831	913	32	2	94464	2	TTN	2	179611294	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	1527277	179611294	63588079	15	21919											
FASTKD2	22868	broad.mit.edu	37	chr2	207631831	207631831	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagtaaaccttaatcatgaAgtctccaatgaagatgttct	16	12	6	7	0	3	3	1	2	2	1	4	3	3	3	2	0	1	2	2	0	7	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:207631831A>C	ENST00000236980.6	+	2	762	c.414A>C	c.(412-414)gaA>gaC	p.E138D	FASTKD2_ENST00000403094.3_Missense_Mutation_p.E138D|FASTKD2_ENST00000402774.3_Missense_Mutation_p.E138D	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	138					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTAATCATGAAGTCTCCAATG	0.363													11	68					0	0	0	0	C	207631831	A	C	207631831	3	2	116	1	0	0	0	0	1	0	0	0	5731	69	3	5	416	5	FASTKD2	2	207631831	Missense_Mutation	SNP	A	TCGA-CN-A49B-01A-31D-A24D-08	28020537	207631831	35567542	16	21920											
XIRP1	165904	broad.mit.edu	37	chr3	39230226	39230226	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatggcacacaggggctcCgtttggaagagcttcactgt	8	10	14	9	1	1	1	1	0	0	1	2	3	2	3	1	5	1	4	1	5	1	2	rs141262169	by1000genomes	TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:39230226C>T	ENST00000340369.3	-	2	939	c.711G>A	c.(709-711)acG>acA	p.T237T	XIRP1_ENST00000396251.1_Silent_p.T237T|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	237							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACAGGGGCTCCGTTTGGAAGA	0.617													31	41					0	0	0	0	T	39230226	C	T	39230226	2	4	116	1	0	0	0	0	0	0	0	1	17525	639	23	1		1	XIRP1	3	39230226	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08		39230226	158792204	17	21921											
SCAP	22937	broad.mit.edu	37	chr3	47470066	47470066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcccgggacaaaggtgaaCgaaatacatctactgccagg	14	6	11	10	2	1	1	0	1	1	0	1	3	1	2	2	3	5	0	2	3	5	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:47470066C>T	ENST00000265565.5	-	4	759	c.347G>A	c.(346-348)cGt>cAt	p.R116H	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	116					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	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi 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)		CAAAGGTGAACGAAATACATC	0.557													33	55					0	0	0	0	T	47470066	C	T	47470066	3	4	116	1	0	0	0	0	1	0	0	0	13963	536	19	1	3572	1	SCAP	3	47470066	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	8239840	47470066	150552364	18	21922											
IL20RB	53833	broad.mit.edu	37	chr3	136708300	136708300	+	Frame_Shift_Del	DEL	G	G	-																															cagccatccttacccgacctGggatggagatcaccaaagat																										TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:136708300delG	ENST00000329582.4	+	4	673	c.424delG	c.(424-426)ggfs	p.G142fs	IL20RB_ENST00000484501.1_3'UTR|IL20RB_ENST00000309741.5_Frame_Shift_Del_p.G95fs	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	142						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TACCCGACCTGGGATGGAGAT	0.562													14	66	---	---	---	---					-	136708300	G	-	136708300	7	5	116	1	0	1	0	1	0	0	0	0	7722	1348	47	0	438	0	IL20RB	3	136708300	Frame_Shift_Del	DEL	G	TCGA-CN-A49B-01A-31D-A24D-08	89238234	136708300	61314130	19	21923											
COPB2	9276	broad.mit.edu	37	chr3	139085612	139085612	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtagcctaggagatacAtcgtcctataaaagaaacag	17	8	9	7	1	0	2	0	0	0	2	2	4	1	2	2	1	3	1	2	1	8	5			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:139085612A>G	ENST00000333188.5	-	15	1863	c.1682T>C	c.(1681-1683)aTg>aCg	p.M561T	COPB2_ENST00000507777.1_Missense_Mutation_p.M532T	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	561					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TAGGAGATACATCGTCCTATA	0.408													27	76					0	0	0	0	G	139085612	A	G	139085612	3	3	116	1	0	0	0	0	1	0	0	0	3759	217	8	5	1070	5	COPB2	3	139085612	Missense_Mutation	SNP	A	TCGA-CN-A49B-01A-31D-A24D-08	2377312	139085612	58936818	20	21924											
KIAA0226	9711	broad.mit.edu	37	chr3	197444966	197444966	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccaaaccctccaccgtcGtcttcaaattacccagcaac	13	8	3	17	2	2	0	1	0	1	0	4	0	3	0	5	0	5	1	5	0	5	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:197444966G>A	ENST00000273582.5	-	0	466				KIAA0226_ENST00000389665.5_Missense_Mutation_p.T34M|KIAA0226_ENST00000296343.5_Missense_Mutation_p.T34M|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Missense_Mutation_p.T34M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226						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)		CTCCACCGTCGTCTTCAAATT	0.502													9	50					0	0	0	0	A	197444966	G	A	197444966	1	1	116	1	0	0	0	0	0	0	0	0	8213	1145	40	1		1	KIAA0226	3	197444966	Translation_Start_Site	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	58359354	197444966	577464	21	21925											
ATP10D	57205	broad.mit.edu	37	chr4	47514744	47514744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatccagcccttcaaggatGagtatgagaagttctccgga	12	9	10	10	1	2	2	1	2	1	1	4	5	3	4	3	2	1	2	3	2	3	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr4:47514744G>A	ENST00000273859.3	+	2	456	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ATP10D_ENST00000504445.1_Missense_Mutation_p.E63K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	63					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTTCAAGGATGAGTATGAGAA	0.458													4	52					0	0	0	0	A	47514744	G	A	47514744	3	1	116	1	0	0	0	0	1	0	0	0	1122	1291	45	2	189	2	ATP10D	4	47514744	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08		47514744	143639532	22	21926											
SEPT11	55752	broad.mit.edu	37	chr4	77940386	77940386	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacaagatggcaaaggcCaggcagtacccctggggtgt	11	5	15	10	0	0	1	0	0	0	1	0	1	0	1	3	6	2	4	3	6	4	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr4:77940386C>A	ENST00000264893.6	+	6	957	c.756C>A	c.(754-756)gcC>gcA	p.A252A	SEPT11_ENST00000502584.1_Silent_p.A252A|SEPT11_ENST00000541121.1_Silent_p.A262A|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000505788.1_Silent_p.A252A|SEPT11_ENST00000510515.1_Silent_p.A262A	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	252					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						TGGCAAAGGCCAGGCAGTACC	0.502													3	7					0.150653	0.150653	1	0	A	77940386	C	A	77940386	2	1	116	1	0	0	0	0	0	0	0	1	14148	581	21	4		4	SEPT11	4	77940386	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	30425642	77940386	113213890	23	21927											
TBC1D9	23158	broad.mit.edu	37	chr4	141590935	141590935	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgggggctggaggagacGaggctgctgggtcgagagta	7	7	20	7	2	1	2	0	0	1	2	2	6	1	3	0	6	1	4	0	6	1	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr4:141590935G>A	ENST00000442267.2	-	8	1364	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	430						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGAGGAGACGAGGCTGCTGG	0.537													4	30					0	0	0	0	A	141590935	G	A	141590935	2	1	116	1	0	0	0	0	0	0	0	1	15721	1045	37	1		1	TBC1D9	4	141590935	Silent	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	63650549	141590935	49563341	24	21928											
TIGD4	201798	broad.mit.edu	37	chr4	153691315	153691315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacaaaaatcaccactcttCgttgctgggcttgaaattcc	12	11	6	12	1	2	1	1	1	1	0	4	1	3	1	2	1	2	3	2	1	4	4			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr4:153691315C>T	ENST00000304337.2	-	2	1662	c.842G>A	c.(841-843)cGa>cAa	p.R281Q		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	281	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CACCACTCTTCGTTGCTGGGC	0.403													7	101					0	0	0	0	T	153691315	C	T	153691315	3	4	116	1	0	0	0	0	1	0	0	0	15992	884	31	1	700	1	TIGD4	4	153691315	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	12100380	153691315	37462961	25	21929											
PCDHGC4	56098	broad.mit.edu	37	chr5	140865344	140865344	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctggagaagcctttggatCgagagaagcaatcggactac	12	8	12	9	2	0	2	0	0	0	2	3	7	1	4	2	3	3	1	2	3	4	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr5:140865344C>T	ENST00000306593.1	+	1	604	c.604C>T	c.(604-606)Cga>Tga	p.R202*	PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTTGGATCGAGAGAAGCA	0.597													5	39					0	0	0	0	T	140865344	C	T	140865344	4	4	116	1	0	0	0	0	0	1	0	0	11641	876	31	1	606	1	PCDHGC4	5	140865344	Nonsense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08		140865344	40049916	26	21930											
FAT2	2196	broad.mit.edu	37	chr5	150920153	150920153	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacactgtgggctgttatcaTtgacgtccaggacaaagatc	12	10	10	9	1	1	2	1	1	0	1	3	3	2	3	1	2	1	2	1	2	3	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr5:150920153T>A	ENST00000261800.5	-	10	9026	c.9014A>T	c.(9013-9015)aAt>aTt	p.N3005I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3005	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGTTATCATTGACGTCCAG	0.542													7	17					0	0	0	0	A	150920153	T	A	150920153	3	1	116	1	0	0	0	0	1	0	0	0	5735	1493	52	5	4091	5	FAT2	5	150920153	Missense_Mutation	SNP	T	TCGA-CN-A49B-01A-31D-A24D-08	10054809	150920153	29995107	27	21931											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27114996	27114996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttcagttccccgtgggccGagtgcaccgcctgctccgca	4	8	12	17	4	1	0	1	0	0	0	3	1	3	0	6	1	2	5	6	1	0	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:27114996G>A	ENST00000377459.1	+	1	136	c.89G>A	c.(88-90)cGa>cAa	p.R30Q		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	30					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						CCCGTGGGCCGAGTGCACCGC	0.642													5	79					0	0	0	0	A	27114996	G	A	27114996	3	1	116	1	0	0	0	0	1	0	0	0	7184	1058	37	1	91	1	HIST1H2AH	6	27114996	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08		27114996	144000071	28	21932											
ABCC10	89845	broad.mit.edu	37	chr6	43400430	43400430	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgctggcccgtggggccTgtggagagctccggcagcct	3	8	16	14	2	0	1	0	0	0	1	1	2	1	1	5	5	3	3	5	5	0	1	rs143701970		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:43400430T>A	ENST00000244533.3	+	1	942	c.583T>A	c.(583-585)Tgt>Agt	p.C195S	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.C238S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	238						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCGTGGGGCCTGTGGAGAGCT	0.642													5	94					0	0	0	0	A	43400430	T	A	43400430	3	1	116	1	0	0	0	0	1	0	0	0	50	1580	55	5	585	5	ABCC10	6	43400430	Missense_Mutation	SNP	T	TCGA-CN-A49B-01A-31D-A24D-08	16285434	43400430	127714637	29	21933											
FAM83B	222584	broad.mit.edu	37	chr6	54805489	54805489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatcattggttctcagggaAgtgagacacctaaagaggtc	12	10	11	8	0	2	2	2	1	1	2	4	4	2	3	1	3	0	1	1	3	4	4			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:54805489A>G	ENST00000306858.7	+	5	1836	c.1720A>G	c.(1720-1722)Agt>Ggt	p.S574G		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	574										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCTCAGGGAAGTGAGACACC	0.443													16	34					0	0	0	0	G	54805489	A	G	54805489	3	3	116	1	0	0	0	0	1	0	0	0	5680	72	3	5	1734	5	FAM83B	6	54805489	Missense_Mutation	SNP	A	TCGA-CN-A49B-01A-31D-A24D-08	11405059	54805489	116309578	30	21934											
ECHDC1	55862	broad.mit.edu	37	chr6	127611032	127611032	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattatttattaaattttccTttcttagcaatagcctctaa	13	19	2	7	0	2	0	0	0	2	0	3	0	3	0	2	0	2	1	2	0	9	10			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:127611032T>A	ENST00000531967.1	-	6	1409	c.906A>T	c.(904-906)aaA>aaT	p.K302N	ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000430841.2_Missense_Mutation_p.K296N|ECHDC1_ENST00000474289.2_Missense_Mutation_p.K296N|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.K279N|ECHDC1_ENST00000454859.3_Missense_Mutation_p.K296N|ECHDC1_ENST00000454591.2_Missense_Mutation_p.K221N|ECHDC1_ENST00000368291.2_3'UTR	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	302							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TAAATTTTCCTTTCTTAGCAA	0.343													32	53					0	0	0	0	A	127611032	T	A	127611032	3	1	116	1	0	0	0	0	1	0	0	0	4929	1606	56	5	21	5	ECHDC1	6	127611032	Missense_Mutation	SNP	T	TCGA-CN-A49B-01A-31D-A24D-08	72805543	127611032	43504035	31	21935											
LTV1	84946	broad.mit.edu	37	chr6	144178465	144178465	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactggattttgatcctgaCattgttgcagctcttgatga	8	15	10	8	1	1	4	0	4	1	0	2	6	2	5	1	1	2	3	1	1	0	5			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:144178465C>T	ENST00000367576.5	+	5	557	c.423C>T	c.(421-423)gaC>gaT	p.D141D		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	141	Asp-rich.									breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TTGATCCTGACATTGTTGCAG	0.378													11	260					0	0	0	0	T	144178465	C	T	144178465	2	4	116	1	0	0	0	0	0	0	0	1	9145	477	17	4		4	LTV1	6	144178465	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	16567433	144178465	26936602	32	21936											
TULP4	56995	broad.mit.edu	37	chr6	158924160	158924160	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaactgtcctctctgatgctGagtcagggccagcacctgga	9	9	11	12	0	2	2	1	2	1	0	4	3	3	3	3	2	3	2	3	2	1	0			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:158924160G>A	ENST00000367097.3	+	13	4822	c.3465G>A	c.(3463-3465)ctG>ctA	p.L1155L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1155					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTCTGATGCTGAGTCAGGGCC	0.582													27	59					0	0	0	0	A	158924160	G	A	158924160	2	1	116	1	0	0	0	0	0	0	0	1	16872	1277	45	2		2	TULP4	6	158924160	Silent	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	14745695	158924160	12190907	33	21937											
FNDC1	84624	broad.mit.edu	37	chr6	159672550	159672550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgggacaaagccaccccagGagatgtggtcacaggtgtgt	10	7	14	10	0	1	1	1	0	0	1	1	3	1	2	3	4	1	0	3	4	1	0			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:159672550G>A	ENST00000297267.9	+	17	5251	c.5051G>A	c.(5050-5052)gGa>gAa	p.G1684E	FNDC1_ENST00000340366.6_Missense_Mutation_p.G1621E	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1684	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCACCCCAGGAGATGTGGTC	0.537													5	12					0	0	0	0	A	159672550	G	A	159672550	3	1	116	1	0	0	0	0	1	0	0	0	6013	1174	41	2	5117	2	FNDC1	6	159672550	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	748390	159672550	11442517	34	21938											
FAM188B	84182	broad.mit.edu	37	chr7	30890112	30890112	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccggacccgctgcctcgtCctggccctcgcagacattgt	5	8	10	18	4	0	1	0	0	0	1	3	2	1	2	5	2	1	2	5	2	0	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:30890112C>T	ENST00000265299.6	+	10	1565	c.1488C>T	c.(1486-1488)gtC>gtT	p.V496V	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	496										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGCCTCGTCCTGGCCCTCG	0.602													6	21					0	0	0	0	T	30890112	C	T	30890112	2	4	116	1	0	0	0	0	0	0	0	1	5557	842	30	2		2	FAM188B	7	30890112	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08		30890112	128248551	35	21939											
KRIT1	889	broad.mit.edu	37	chr7	91871385	91871385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtattcccgagaattgagaCtggcagtattctttggacga	10	13	11	7	2	1	2	0	1	1	2	2	6	2	3	1	2	0	3	1	2	3	6			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:91871385C>A	ENST00000394507.1	-	5	848	c.65G>T	c.(64-66)aGt>aTt	p.S22I	KRIT1_ENST00000394503.2_Missense_Mutation_p.S22I|KRIT1_ENST00000340022.2_Missense_Mutation_p.S22I|KRIT1_ENST00000412043.2_Missense_Mutation_p.S22I|KRIT1_ENST00000394505.2_Missense_Mutation_p.S22I	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	22					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAATTGAGACTGGCAGTATT	0.303													61	274					4.46356e-37	4.96321e-37	1	0	A	91871385	C	A	91871385	3	1	116	1	0	0	0	0	1	0	0	0	8497	565	20	4	2209	4	KRIT1	7	91871385	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	60981273	91871385	67267278	36	21940											
MUC17	140453	broad.mit.edu	37	chr7	100682754	100682754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcagcatgccaacctcaaCtcctggtgaaagaagcactc	13	7	8	13	0	1	2	1	1	0	1	3	2	2	2	3	1	6	3	3	1	5	1	rs71286275		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:100682754C>T	ENST00000306151.4	+	3	8121	c.8057C>T	c.(8056-8058)aCt>aTt	p.T2686I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2686	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAACCTCAACTCCTGGTGAA	0.483													23	704					0	0	0	0	T	100682754	C	T	100682754	3	4	116	1	0	0	0	0	1	0	0	0	10044	565	20	4	8067	4	MUC17	7	100682754	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	8811369	100682754	58455909	37	21941											
OR9A2	135924	broad.mit.edu	37	chr7	142723727	142723727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctaatgaatttgatttgcGgaaggtaaactgaaatgtgg	13	13	12	3	1	1	3	0	3	1	0	1	4	1	4	0	3	2	1	0	3	6	4	rs143573729	byFrequency	TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:142723727G>A	ENST00000350513.2	-	1	555	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R165S(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTTGATTTGCGGAAGGTAAAC	0.398													4	91					0	0	0	0	A	142723727	G	A	142723727	3	1	116	1	0	0	0	0	1	0	0	0	11319	1116	39	1	443	1	OR9A2	7	142723727	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	42040973	142723727	16414936	38	21942											
DLC1	10395	broad.mit.edu	37	chr8	12957357	12957357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacagagccgttattccccGagggggagaaactgccattg	10	8	12	11	2	1	2	1	0	0	2	2	4	2	2	4	2	3	1	4	2	2	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:12957357G>A	ENST00000276297.4	-	9	2898	c.2489C>T	c.(2488-2490)tCg>tTg	p.S830L	DLC1_ENST00000512044.2_Missense_Mutation_p.S427L|DLC1_ENST00000358919.2_Missense_Mutation_p.S393L|DLC1_ENST00000520226.1_Missense_Mutation_p.S319L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	830					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GTTATTCCCCGAGGGGGAGAA	0.577													4	57					0	0	0	0	A	12957357	G	A	12957357	3	1	116	1	0	0	0	0	1	0	0	0	4587	1059	37	1	2137	1	DLC1	8	12957357	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08		12957357	133406665	39	21943											
PRKDC	5591	broad.mit.edu	37	chr8	48842559	48842559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaaattctgcttgtttctCagggagaatctctctgtaaa	13	14	7	7	0	4	1	1	0	4	1	6	2	4	1	0	1	1	3	0	1	6	4			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:48842559C>G	ENST00000314191.2	-	18	1962	c.1906G>C	c.(1906-1908)Gag>Cag	p.E636Q	PRKDC_ENST00000338368.3_Missense_Mutation_p.E636Q|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	636					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCTTGTTTCTCAGGGAGAATC	0.323								Non-homologous end-joining					4	44					0	0	0	0	G	48842559	C	G	48842559	3	3	116	1	0	0	0	0	1	0	0	0	12601	835	29	2	10755	2	PRKDC	8	48842559	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	35885202	48842559	97521463	40	21944											
PLAG1	5324	broad.mit.edu	37	chr8	57079259	57079259	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccccctttaatggctgtTctttttcaggaatagaaatt	9	18	6	8	0	2	1	1	0	1	1	3	2	3	2	2	2	0	2	2	2	4	8			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:57079259T>C	ENST00000316981.3	-	5	1525	c.1046A>G	c.(1045-1047)gAa>gGa	p.E349G	PLAG1_ENST00000429357.2_Missense_Mutation_p.E349G|PLAG1_ENST00000423799.2_Missense_Mutation_p.E267G	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	349	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TAATGGCTGTTCTTTTTCAGG	0.423			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								46	81					0	0	0	0	C	57079259	T	C	57079259	3	2	116	1	0	0	0	0	1	0	0	0	12090	1783	62	5	460	5	PLAG1	8	57079259	Missense_Mutation	SNP	T	TCGA-CN-A49B-01A-31D-A24D-08	8236700	57079259	89284763	41	21945											
CSPP1	79848	broad.mit.edu	37	chr8	68074073	68074073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacagccttctcctatagttCctgctcttcagaacaaaatt	11	13	5	12	0	3	1	1	0	2	1	5	2	4	1	3	0	3	2	3	0	5	6			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:68074073C>T	ENST00000262210.5	+	20	2582	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.P506S	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	886	Glu-rich.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TCCTATAGTTCCTGCTCTTCA	0.358													40	95					0	0	0	0	T	68074073	C	T	68074073	3	4	116	1	0	0	0	0	1	0	0	0	3994	855	30	2	2742	2	CSPP1	8	68074073	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	10994814	68074073	78289949	42	21946											
FER1L6	654463	broad.mit.edu	37	chr8	125131953	125131953	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcattgctttcattctcatCatcctcatcatcttcctcgt	7	18	2	14	1	7	0	6	0	2	0	11	0	9	0	2	0	1	1	2	0	0	4			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:125131953C>T	ENST00000522917.1	+	41	5702	c.5496C>T	c.(5494-5496)atC>atT	p.I1832I	FER1L6_ENST00000399018.1_Silent_p.I1832I|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1832						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			tcattctcatcatcctcatca	0.468													5	111					0	0	0	0	T	125131953	C	T	125131953	2	4	116	1	0	0	0	0	0	0	0	1	5860	816	29	2		2	FER1L6	8	125131953	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	57057880	125131953	21232069	43	21947											
SLA	6503	broad.mit.edu	37	chr8	134072440	134072440	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggccgctggtgatgccCagagcctgtggtataggaga	7	8	17	9	1	0	3	0	1	0	2	0	4	0	3	3	5	2	2	3	5	2	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:134072440C>T	ENST00000395352.3	-	2	365	c.17G>A	c.(16-18)tGg>tAg	p.W6*	SLA_ENST00000427060.2_Nonsense_Mutation_p.W29*|TG_ENST00000519543.1_Intron|SLA_ENST00000517648.1_Nonsense_Mutation_p.W6*|SLA_ENST00000338087.5_5'UTR|TG_ENST00000542445.1_Intron|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000524345.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron	NM_001045557.2	NP_001039022.2	Q13239	SLAP1_HUMAN	Src-like-adaptor	0						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TGGTGATGCCCAGAGCCTGTG	0.567													14	66					0	0	0	0	T	134072440	C	T	134072440	4	4	116	1	0	0	0	0	0	1	0	0	14451	595	21	4	892	4	SLA	8	134072440	Nonsense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	8940487	134072440	12291582	44	21948											
SLA	6503	broad.mit.edu	37	chr8	134072467	134072467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtggtataggagacagacgGggaaagtcaaccgtgccctg	11	7	15	8	2	1	2	1	0	0	2	1	4	1	3	2	4	2	1	2	4	4	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:134072467G>A	ENST00000427060.2	-	1	136	c.59C>T	c.(58-60)cCc>cTc	p.P20L	TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000338087.5_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000518565.1_Intron|SLA_ENST00000524345.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron	NM_006748.3	NP_006739.2	Q13239	SLAP1_HUMAN	Src-like-adaptor	0						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GAGACAGACGGGGAAAGTCAA	0.547													12	40					0	0	0	0	A	134072467	G	A	134072467	3	1	116	1	0	0	0	0	1	0	0	0	14451	1232	43	4	919	4	SLA	8	134072467	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	27	134072467	12291555	45	21949											
TRAPPC9	83696	broad.mit.edu	37	chr8	140922441	140922441	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatctccaggcctcgggcttCccgccgctcttcctccagct	3	10	9	19	3	2	0	0	0	2	0	7	1	5	0	6	2	1	3	6	2	0	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:140922441C>A	ENST00000389328.4	-	20	3222	c.3208G>T	c.(3208-3210)Gaa>Taa	p.E1070*	TRAPPC9_ENST00000438773.2_Nonsense_Mutation_p.E972*|TRAPPC9_ENST00000389327.3_Nonsense_Mutation_p.E963*	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	972					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCTCGGGCTTCCCGCCGCTCT	0.592													16	49					0.00316338	0.00322838	1	0	A	140922441	C	A	140922441	4	1	116	1	0	0	0	0	0	1	0	0	16560	864	30	2	548	2	TRAPPC9	8	140922441	Nonsense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	6849974	140922441	5441581	46	21950											
IFNA4	3441	broad.mit.edu	37	chr9	21187008	21187008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtttgttgaaaacgagaGggatctcatgatttctgctc	11	13	10	7	1	2	3	1	2	2	1	4	5	2	4	0	1	2	3	0	1	3	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr9:21187008G>A	ENST00000421715.1	-	1	590	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	175					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAAAACGAGAGGGATCTCATG	0.398													6	132					0	0	0	0	A	21187008	G	A	21187008	3	1	116	1	0	0	0	0	1	0	0	0	7592	1000	35	4	50	4	IFNA4	9	21187008	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08		21187008	120026423	47	21951											
UBE2R2	54926	broad.mit.edu	37	chr9	33911983	33911983	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actatcctattaagtgtaatCtcactgcttaatgagcccaa	13	13	5	10	0	1	1	1	1	1	0	3	1	2	1	2	0	2	2	2	0	6	5			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr9:33911983C>G	ENST00000263228.3	+	4	575	c.384C>G	c.(382-384)atC>atG	p.I128M		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	128					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		TAAGTGTAATCTCACTGCTTA	0.363													38	14					0	0	0	0	G	33911983	C	G	33911983	3	3	116	1	0	0	0	0	1	0	0	0	16967	903	32	2	398	2	UBE2R2	9	33911983	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	12724975	33911983	107301448	48	21952											
C9orf24	84688	broad.mit.edu	37	chr9	34381458	34381459	+	Translation_Start_Site	INS	-	-	T																															cctcctggaagcggcacacaINStgctacctcaagctctgacc																										TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr9:34381458_34381459insT	ENST00000379133.3	-	0	139_140				C9orf24_ENST00000297623.2_Intron|C9orf24_ENST00000379127.1_Intron|C9orf24_ENST00000379124.1_De_novo_Start_OutOfFrame|C9orf24_ENST00000379126.3_De_novo_Start_OutOfFrame	NM_001252195.1|NM_147168.1	NP_001239124.1|NP_671697.1	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		AGCGGCACACATGCTACCTCAA	0.599													52	31	---	---	---	---					T	34381459	-	T	34381458	6	5	116	1	0	1	1	0	0	0	0	0	2500	232	8	0		0	C9orf24	9	34381458	Translation_Start_Site	INS	-	TCGA-CN-A49B-01A-31D-A24D-08	469475	34381458	106831973	49	21953											
DHTKD1	55526	broad.mit.edu	37	chr10	12160760	12160760	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaacagggttaagaccctCgtgttctgctccggcaaaca	10	9	9	13	2	1	1	0	0	1	1	4	1	3	1	3	2	3	4	3	2	3	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr10:12160760C>T	ENST00000263035.4	+	15	2477	c.2415C>T	c.(2413-2415)ctC>ctT	p.L805L		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	805					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTAAGACCCTCGTGTTCTGCT	0.473													70	154					0	0	0	0	T	12160760	C	T	12160760	2	4	116	1	0	0	0	0	0	0	0	1	4537	871	31	1		1	DHTKD1	10	12160760	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08		12160760	123373987	50	21954											
MPP7	143098	broad.mit.edu	37	chr10	28409531	28409531	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaataattaccttgccttCttttgatggtgtctcctctt	7	18	6	10	0	3	1	0	1	3	0	4	1	3	1	3	1	3	1	3	1	3	7			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr10:28409531C>G	ENST00000337532.5	-	10	958	c.682G>C	c.(682-684)Gaa>Caa	p.E228Q	MPP7_ENST00000375719.3_Missense_Mutation_p.E228Q|MPP7_ENST00000445954.2_Missense_Mutation_p.E103Q|MPP7_ENST00000540098.1_Missense_Mutation_p.E228Q|MPP7_ENST00000375732.1_Missense_Mutation_p.E228Q	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	228	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ACCTTGCCTTCTTTTGATGGT	0.388													11	35					0	0	0	0	G	28409531	C	G	28409531	3	3	116	1	0	0	0	0	1	0	0	0	9809	922	32	2	1084	2	MPP7	10	28409531	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	16248771	28409531	107125216	51	21955											
PBLD	64081	broad.mit.edu	37	chr10	70045062	70045062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagaaggaacactagcttcGaattaggcaaataaaaaaga	20	7	9	5	1	0	2	0	1	0	2	1	5	0	3	0	2	2	2	0	2	9	4			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr10:70045062G>A	ENST00000432941.1	-	9	999	c.797C>T	c.(796-798)tCg>tTg	p.S266L	PBLD_ENST00000358769.2_Intron|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000336578.1_Intron|PBLD_ENST00000309049.4_Intron	NM_001033083.1	NP_001028255.1	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	0					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CACTAGCTTCGAATTAGGCAA	0.398													19	34					0	0	0	0	A	70045062	G	A	70045062	3	1	116	1	0	0	0	0	1	0	0	0	11560	1059	37	1	166	1	PBLD	10	70045062	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	41635531	70045062	65489685	52	21956											
PTDSS2	81490	broad.mit.edu	37	chr11	460237	460237	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcacctgtacgcttggctAtgtgacgctgctggaggaaa	8	10	12	11	2	1	1	1	1	0	0	1	3	1	3	2	3	2	5	2	3	3	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:460237A>G	ENST00000308020.5	+	2	409	c.233A>G	c.(232-234)tAt>tGt	p.Y78C		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	78						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	ACGCTTGGCTATGTGACGCTG	0.552													5	30					0	0	0	0	G	460237	A	G	460237	3	3	116	1	0	0	0	0	1	0	0	0	12816	449	16	5	239	5	PTDSS2	11	460237	Missense_Mutation	SNP	A	TCGA-CN-A49B-01A-31D-A24D-08		460237	134546279	53	21957											
OR52E4	390081	broad.mit.edu	37	chr11	5906086	5906086	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagcacaggggtctggccggGttggcctgtgcacccattaa	7	8	15	11	1	1	0	0	0	1	0	1	1	1	0	3	5	2	3	3	5	1	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:5906086G>A	ENST00000316987.2	+	1	586	c.564G>A	c.(562-564)ggG>ggA	p.G188G		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTGGCCGGGTTGGCCTGTG	0.443													38	112					0	0	0	0	A	5906086	G	A	5906086	2	1	116	1	0	0	0	0	0	0	0	1	11187	1248	44	4		4	OR52E4	11	5906086	Silent	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	5445849	5906086	129100430	54	21958											
NLRP10	338322	broad.mit.edu	37	chr11	7981899	7981899	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaacctctggtgctgaatCccttcagctgctagggagca	9	9	12	11	0	2	1	1	1	1	0	3	3	3	3	2	3	5	4	2	3	3	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:7981899C>A	ENST00000328600.2	-	2	1421	c.1260G>T	c.(1258-1260)ggG>ggT	p.G420G		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	420	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTGCTGAATCCCTTCAGCTG	0.542													13	63					7.03913e-09	7.65569e-09	1	0	A	7981899	C	A	7981899	2	1	116	1	0	0	0	0	0	0	0	1	10542	842	30	2		2	NLRP10	11	7981899	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	2075813	7981899	127024617	55	21959											
OR5J2	282775	broad.mit.edu	37	chr11	55944325	55944325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctattcatctgcaattGcacccaaaatgctggtgaac	11	11	7	12	0	2	1	1	1	1	0	2	1	2	1	2	1	5	4	2	1	5	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:55944325G>A	ENST00000312298.1	+	1	232	c.232G>A	c.(232-234)Gca>Aca	p.A78T		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATCTGCAATTGCACCCAAAAT	0.438													15	176					0	0	0	0	A	55944325	G	A	55944325	3	1	116	1	0	0	0	0	1	0	0	0	11236	1319	46	4	234	4	OR5J2	11	55944325	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	47962426	55944325	79062191	56	21960											
SF1	7536	broad.mit.edu	37	chr11	64536774	64536774	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtagatcattctggtcctCtggagtctcgataccctgct	6	13	9	13	2	4	1	1	0	3	1	6	3	5	2	3	2	2	2	3	2	2	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:64536774C>A	ENST00000377390.3	-	7	1037	c.700G>T	c.(700-702)Gag>Tag	p.E234*	SF1_ENST00000334944.5_Nonsense_Mutation_p.E234*|SF1_ENST00000377394.3_Nonsense_Mutation_p.E234*|SF1_ENST00000433274.2_Nonsense_Mutation_p.E208*|SF1_ENST00000377387.1_Nonsense_Mutation_p.E359*|SF1_ENST00000422298.2_Nonsense_Mutation_p.E119*|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000227503.9_Nonsense_Mutation_p.E234*	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	234					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA 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						TTCTGGTCCTCTGGAGTCTCG	0.478													29	95					2.2171e-23	2.42903e-23	1	0	A	64536774	C	A	64536774	4	1	116	1	0	0	0	0	0	1	0	0	14232	922	32	2	1385	2	SF1	11	64536774	Nonsense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	8592449	64536774	70469742	57	21961											
RSF1	51773	broad.mit.edu	37	chr11	77412477	77412477	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggactcaatctttgtgcGtccttatcaagaaaagtctt	11	15	7	8	1	4	1	2	0	2	1	5	2	5	2	1	1	1	0	1	1	5	4			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:77412477G>A	ENST00000308488.6	-	6	2099	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	RSF1_ENST00000480887.1_Silent_p.D347D|RSF1_ENST00000360355.2_Silent_p.D568D			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	599					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ATCTTTGTGCGTCCTTATCAA	0.428													25	87					0	0	0	0	A	77412477	G	A	77412477	2	1	116	1	0	0	0	0	0	0	0	1	13784	1136	40	1		1	RSF1	11	77412477	Silent	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	12875703	77412477	57594039	58	21962											
MMP10	4319	broad.mit.edu	37	chr11	102650335	102650335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcttgcgcatcacctccaGagtgtcagtgtctagcttcc	6	11	11	13	1	3	1	2	0	1	1	5	1	5	1	3	1	2	3	3	1	1	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:102650335G>A	ENST00000279441.4	-	2	283	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	83					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		ATCACCTCCAGAGTGTCAGTG	0.483													24	17					0	0	0	0	A	102650335	G	A	102650335	2	1	116	1	0	0	0	0	0	0	0	1	9718	933	33	2		2	MMP10	11	102650335	Silent	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	25237858	102650335	32356181	59	21963											
DLAT	1737	broad.mit.edu	37	chr11	111915886	111915886	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagctgttgtgcctcccAcaggtcctggaatggcacca	7	8	12	14	1	0	0	0	0	0	0	2	1	2	1	4	4	2	4	4	4	1	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:111915886A>C	ENST00000280346.6	+	9	1881	c.1222A>C	c.(1222-1224)Aca>Cca	p.T408P	DLAT_ENST00000537636.1_Missense_Mutation_p.T179P|DLAT_ENST00000393051.1_Missense_Mutation_p.T303P	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	408					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	TGTGCCTCCCACAGGTCCTGG	0.483													54	77					0	0	0	0	C	111915886	A	C	111915886	3	2	116	1	0	0	0	0	1	0	0	0	4586	159	6	5	1256	5	DLAT	11	111915886	Missense_Mutation	SNP	A	TCGA-CN-A49B-01A-31D-A24D-08	9265551	111915886	23090630	60	21964											
B4GALNT3	283358	broad.mit.edu	37	chr12	645442	645442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacttgaagtggaacaagcCtgtcccctggctctcagagg	9	9	11	12	0	1	2	1	1	1	1	3	3	2	3	3	3	3	1	3	3	4	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:645442C>G	ENST00000266383.5	+	3	345	c.332C>G	c.(331-333)cCt>cGt	p.P111R		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	111						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)			TGGAACAAGCCTGTCCCCTGG	0.448													33	45					0	0	0	0	G	645442	C	G	645442	3	3	116	1	0	0	0	0	1	0	0	0	1272	681	24	4	342	4	B4GALNT3	12	645442	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08		645442	133206453	61	21965			1	31		2	2	14	C		4.955183e-05
B4GALNT3	283358	broad.mit.edu	37	chr12	645455	645455	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaagcctgtcccctggctCtcagaggtgagggactttct	8	10	11	12	0	2	2	1	1	2	1	4	3	3	3	3	3	2	1	3	3	2	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:645455C>T	ENST00000266383.5	+	3	358	c.345C>T	c.(343-345)ctC>ctT	p.L115L		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	115						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)			TCCCCTGGCTCTCAGAGGTGA	0.453													33	43					0	0	0	0	T	645455	C	T	645455	2	4	116	1	0	0	0	0	0	0	0	1	1272	900	32	2		2	B4GALNT3	12	645455	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	13	645455	133206440	62	21966			1	31		2	2	14	C		4.955183e-05
NINJ2	4815	broad.mit.edu	37	chr12	675029	675029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagctgcctgtgccaaTgcagggtggcccaggggaca	9	6	15	11	0	0	0	0	0	0	0	0	1	0	1	3	4	5	3	3	4	2	0			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:675029T>C	ENST00000433832.2	-	2	441	c.241A>G	c.(241-243)Att>Gtt	p.I81V	NINJ2_ENST00000397265.3_Intron|NINJ2_ENST00000305108.4_Intron|NINJ2_ENST00000537416.1_5'UTR|NINJ2_ENST00000542920.1_Intron			Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CCTGTGCCAATGCAGGGTGGC	0.657													12	13					0	0	0	0	C	675029	T	C	675029	3	2	116	1	0	0	0	0	1	0	0	0	10489	1479	51	5		5	NINJ2	12	675029	Missense_Mutation	SNP	T	TCGA-CN-A49B-01A-31D-A24D-08	29574	675029	133176866	63	21967											
WNK1	65125	broad.mit.edu	37	chr12	960882	960882	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatattaaaaagaaagatttTtgctcagtatttgtcatcat	15	16	6	4	0	3	2	3	0	0	2	3	3	3	2	0	0	1	2	0	0	6	6			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:960882T>A	ENST00000340908.4	+	1	24	c.24T>A	c.(22-24)ttT>ttA	p.F8L	WNK1_ENST00000540360.1_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Intron|WNK1_ENST00000315939.6_Intron			Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGAAAGATTTTTGCTCAGTAT	0.338													6	16					0	0	0	0	A	960882	T	A	960882	3	1	116	1	0	0	0	0	1	0	0	0	17473	1856	64	5		5	WNK1	12	960882	Missense_Mutation	SNP	T	TCGA-CN-A49B-01A-31D-A24D-08	285853	960882	132891013	64	21968											
CACNA1C	775	broad.mit.edu	37	chr12	2760764	2760764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcctgttctcacccccctCttgctgtgctaactgcacct	4	13	5	19	0	2	0	1	0	2	0	4	0	3	0	6	0	4	4	6	0	1	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:2760764C>G	ENST00000344100.3	+	32	3970	c.3970C>G	c.(3970-3972)Ctt>Gtt	p.L1324V	CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399597.1_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1363					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCACCCCCCTCTTGCTGTGCT	0.602													4	90					0	0	0	0	G	2760764	C	G	2760764	3	3	116	1	0	0	0	0	1	0	0	0	2565	913	32	2	4356	2	CACNA1C	12	2760764	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	1799882	2760764	131091131	65	21969											
TAPBPL	55080	broad.mit.edu	37	chr12	6561460	6561460	+	Frame_Shift_Del	DEL	T	T	-																															tgctgctctgcctggctctaTctggagcagcagaaaccagt																										TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:6561460delT	ENST00000266556.7	+	1	211	c.46delT	c.(46-48)ctfs	p.S16fs	TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_Frame_Shift_Del_p.S16fs	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	16					antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CCTGGCTCTATCTGGAGCAGC	0.632													3	4	---	---	---	---					-	6561460	T	-	6561460	7	5	116	1	0	1	0	1	0	0	0	0	15644	1435	50	0	48	0	TAPBPL	12	6561460	Frame_Shift_Del	DEL	T	TCGA-CN-A49B-01A-31D-A24D-08	3800696	6561460	127290435	66	21970											
CCDC91	55297	broad.mit.edu	37	chr12	28459840	28459840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcaagtctggagattaaaCtcaaagtatctgaagaagaa	17	11	8	5	0	4	4	2	1	2	3	4	5	4	4	0	1	1	1	0	1	8	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:28459840C>A	ENST00000545336.1	+	8	852	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	CCDC91_ENST00000539107.1_Missense_Mutation_p.L145I|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.L115I|CCDC91_ENST00000381259.1_Missense_Mutation_p.L145I|CCDC91_ENST00000381256.1_Missense_Mutation_p.L145I			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	145					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GGAGATTAAACTCAAAGTATC	0.318													9	48					1.12685e-05	1.19079e-05	1	0	A	28459840	C	A	28459840	3	1	116	1	0	0	0	0	1	0	0	0	2897	565	20	4	447	4	CCDC91	12	28459840	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	21898380	28459840	105392055	67	21971											
IKZF4	64375	broad.mit.edu	37	chr12	56428753	56428753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaaagcaaccacgaagatCgggttgcgggggtggtatcc	11	6	15	9	3	0	2	0	0	0	2	2	3	1	2	2	4	3	3	2	4	4	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:56428753C>T	ENST00000262032.5	+	12	1763	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	IKZF4_ENST00000547167.1_Missense_Mutation_p.R466W|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Missense_Mutation_p.R364W|IKZF4_ENST00000547791.1_Missense_Mutation_p.R421W			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	466					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACGAAGATCGGGTTGCGGG	0.667													14	19					0	0	0	0	T	56428753	C	T	56428753	3	4	116	1	0	0	0	0	1	0	0	0	7670	875	31	1	1426	1	IKZF4	12	56428753	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	27968913	56428753	77423142	68	21972											
HSD17B6	8630	broad.mit.edu	37	chr12	57181028	57181028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcgatattcagctggctggGatgctaaatttttcttcatc	8	16	8	9	1	3	0	2	0	1	0	5	2	3	1	0	2	2	3	0	2	3	6			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:57181028G>T	ENST00000554643.1	+	6	1205	c.856G>T	c.(856-858)Gat>Tat	p.D286Y	HSD17B6_ENST00000555159.1_Missense_Mutation_p.D286Y|HSD17B6_ENST00000555805.1_Missense_Mutation_p.D286Y|HSD17B6_ENST00000554150.1_Missense_Mutation_p.D286Y|HSD17B6_ENST00000322165.1_Missense_Mutation_p.D286Y			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	286					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	AGCTGGCTGGGATGCTAAATT	0.468													11	41					3.86212e-05	3.99622e-05	1	0	T	57181028	G	T	57181028	3	4	116	1	0	0	0	0	1	0	0	0	7437	1174	41	2	870	2	HSD17B6	12	57181028	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	752275	57181028	76670867	69	21973											
FRS2	10818	broad.mit.edu	37	chr12	69968445	69968445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatagaatattcaaggcgtCgggactgtacaccaacagtc	15	8	9	9	2	1	1	1	0	0	1	3	2	1	2	1	2	2	1	1	2	7	4	rs112443855		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:69968445C>T	ENST00000299293.2	+	10	1747	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	FRS2_ENST00000397997.2_Missense_Mutation_p.R413W|FRS2_ENST00000549921.1_Missense_Mutation_p.R413W|FRS2_ENST00000550389.1_Missense_Mutation_p.R413W	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	413					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTCAAGGCGTCGGGACTGTAC	0.398													291	870					0	0	0	0	T	69968445	C	T	69968445	3	4	116	1	0	0	0	0	1	0	0	0	6109	875	31	1	1255	1	FRS2	12	69968445	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	12787417	69968445	63883450	70	21974											
NAV3	89795	broad.mit.edu	37	chr12	78516170	78516170	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgaggtccagagcctgctCatgagaacgggtagtgtgag	10	7	15	9	2	1	3	1	2	0	2	2	5	2	3	2	2	3	2	2	2	2	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:78516170C>T	ENST00000397909.2	+	16	4373	c.4200C>T	c.(4198-4200)ctC>ctT	p.L1400L	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Silent_p.L1400L|NAV3_ENST00000536525.2_Silent_p.L1400L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1400	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAGCCTGCTCATGAGAACGG	0.552										HNSCC(70;0.22)			4	78					0	0	0	0	T	78516170	C	T	78516170	2	4	116	1	0	0	0	0	0	0	0	1	10255	813	29	2		2	NAV3	12	78516170	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	8547725	78516170	55335725	71	21975											
ATP12A	479	broad.mit.edu	37	chr13	25283862	25283862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccttgtgtatttcaccGtctatgcacaagagggcttt	7	16	8	10	1	2	1	1	0	1	1	3	1	3	1	2	1	1	3	2	1	3	6			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr13:25283862G>A	ENST00000218548.6	+	19	3010	c.2677G>A	c.(2677-2679)Gtc>Atc	p.V893I	ATP12A_ENST00000381946.3_Missense_Mutation_p.V887I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	887					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTATTTCACCGTCTATGCACA	0.502													57	139					0	0	0	0	A	25283862	G	A	25283862	3	1	116	1	0	0	0	0	1	0	0	0	1126	1145	40	1	2751	1	ATP12A	13	25283862	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08		25283862	89886016	72	21976											
DCLK1	9201	broad.mit.edu	37	chr13	36428695	36428695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggcgacttgcctgagcGcggagtagagagctgactac	8	8	15	10	3	0	3	0	2	0	1	0	6	0	4	1	2	4	3	1	2	2	4			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr13:36428695G>A	ENST00000255448.4	-	6	1187	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C	DCLK1_ENST00000360631.3_Missense_Mutation_p.R326C|DCLK1_ENST00000379893.1_Missense_Mutation_p.R19C|DCLK1_ENST00000379892.4_Missense_Mutation_p.R326C|DCLK1_ENST00000460982.1_5'UTR	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	326	Pro/Ser-rich.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.R326C(4)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTGCCTGAGCGCGGAGTAGAG	0.473													14	29					0	0	0	0	A	36428695	G	A	36428695	3	1	116	1	0	0	0	0	1	0	0	0	4323	1087	38	1	1265	1	DCLK1	13	36428695	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	11144833	36428695	78741183	73	21977											
CCNA1	8900	broad.mit.edu	37	chr13	37011806	37011806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttattctggatcagaaaatgCcttccctccagctggaaaga	12	11	8	10	0	2	2	1	0	1	2	4	4	4	4	3	2	2	1	3	2	4	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr13:37011806C>A	ENST00000418263.1	+	3	685	c.335C>A	c.(334-336)gCc>gAc	p.A112D	CCNA1_ENST00000255465.4_Missense_Mutation_p.A113D|CCNA1_ENST00000449823.1_Missense_Mutation_p.A69D|CCNA1_ENST00000440264.1_Missense_Mutation_p.A69D|CCNA1_ENST00000463403.1_3'UTR	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	113					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCAGAAAATGCCTTCCCTCCA	0.478													6	116					3.59834e-05	3.74932e-05	1	0	A	37011806	C	A	37011806	3	1	116	1	0	0	0	0	1	0	0	0	2938	739	26	4	348	4	CCNA1	13	37011806	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	583111	37011806	78158072	74	21978											
EGLN3	112399	broad.mit.edu	37	chr14	34419917	34419917	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgatgtactccagggcAattttctccaggtccagcct	8	10	10	13	1	1	0	0	0	1	0	4	1	3	0	4	3	2	3	4	3	2	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr14:34419917A>C	ENST00000547327.2	-	1	370	c.42T>G	c.(40-42)atT>atG	p.I14M	EGLN3_ENST00000250457.3_Missense_Mutation_p.I14M|EGLN3_ENST00000553215.1_Missense_Mutation_p.I14M			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	14					apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	ACTCCAGGGCAATTTTCTCCA	0.617													23	43					0	0	0	0	C	34419917	A	C	34419917	3	2	116	1	0	0	0	0	1	0	0	0	5006	126	5	5	697	5	EGLN3	14	34419917	Missense_Mutation	SNP	A	TCGA-CN-A49B-01A-31D-A24D-08		34419917	72929623	75	21979											
FBXO33	254170	broad.mit.edu	37	chr14	39870602	39870602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaatcctctctagtggtaTactgggtttcagaatcttta	10	16	8	7	0	3	2	1	1	2	1	5	2	4	2	1	2	1	2	1	2	6	6			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr14:39870602T>C	ENST00000298097.7	-	3	1511	c.1174A>G	c.(1174-1176)Ata>Gta	p.I392V	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	392										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TCTAGTGGTATACTGGGTTTC	0.388													18	49					0	0	0	0	C	39870602	T	C	39870602	3	2	116	1	0	0	0	0	1	0	0	0	5788	1406	49	5	501	5	FBXO33	14	39870602	Missense_Mutation	SNP	T	TCGA-CN-A49B-01A-31D-A24D-08	5450685	39870602	67478938	76	21980											
KCNH5	27133	broad.mit.edu	37	chr14	63447862	63447862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatggcggtgtagaaggtaaGaattaaaatcacccaatccc	16	8	9	8	1	1	2	1	0	0	2	2	2	2	2	2	3	0	2	2	3	8	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr14:63447862G>A	ENST00000322893.7	-	6	938	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	KCNH5_ENST00000420622.2_Missense_Mutation_p.L224F|KCNH5_ENST00000394964.2_Missense_Mutation_p.L166F|KCNH5_ENST00000394968.1_Missense_Mutation_p.L166F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	224					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TAGAAGGTAAGAATTAAAATC	0.388													5	36					0	0	0	0	A	63447862	G	A	63447862	3	1	116	1	0	0	0	0	1	0	0	0	8088	942	33	2	2354	2	KCNH5	14	63447862	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	23577260	63447862	43901678	77	21981											
AHNAK2	113146	broad.mit.edu	37	chr14	105419974	105419974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgctctgtgtcttctgtgGctttttctctgcctgtcttt	0	21	8	12	0	5	0	0	0	5	0	6	0	5	0	2	1	2	2	2	1	0	4			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr14:105419974G>T	ENST00000333244.5	-	7	1933	c.1814C>A	c.(1813-1815)gCc>gAc	p.A605D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	605						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCTTCTGTGGCTTTTTCTCT	0.493													32	357					4.2108e-06	4.54644e-06	1	0	T	105419974	G	T	105419974	3	4	116	1	0	0	0	0	1	0	0	0	415	1203	42	4	15577	4	AHNAK2	14	105419974	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	41972112	105419974	1929566	78	21982											
PML	5371	broad.mit.edu	37	chr15	74290542	74290542	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctggataacgtctttttCgagagtctgcagcggcgcct	6	11	12	12	4	2	1	0	0	2	1	3	3	2	2	2	2	3	1	2	2	1	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr15:74290542C>T	ENST00000565898.1	+	2	411	c.327C>T	c.(325-327)ttC>ttT	p.F109F	PML_ENST00000268059.6_Silent_p.F109F|PML_ENST00000268058.3_Silent_p.F109F|PML_ENST00000395135.3_Silent_p.F109F|PML_ENST00000359928.4_Silent_p.F109F|PML_ENST00000563500.1_Silent_p.F109F|PML_ENST00000569965.1_Silent_p.F109F|PML_ENST00000569477.1_Silent_p.F109F|PML_ENST00000436891.3_Silent_p.F109F|PML_ENST00000567543.1_Silent_p.F109F|PML_ENST00000435786.2_Silent_p.F109F|PML_ENST00000354026.6_Silent_p.F109F|PML_ENST00000395132.2_Silent_p.F109F|PML_ENST00000564428.1_Silent_p.F109F			P29590	PML_HUMAN	promyelocytic leukemia	109					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ACGTCTTTTTCGAGAGTCTGC	0.632			T	"RARA, PAX5"	"APL, ALL"								15	32					0	0	0	0	T	74290542	C	T	74290542	2	4	116	1	0	0	0	0	0	0	0	1	12207	883	31	1		1	PML	15	74290542	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08		74290542	28240850	79	21983											
SRRM2	23524	broad.mit.edu	37	chr16	2813759	2813759	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttcaagtccagaagtgaGacagagtcattcagaatcac	15	9	8	9	0	4	4	4	1	0	4	5	5	5	4	1	0	1	0	1	0	4	3	rs149404678		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr16:2813759G>C	ENST00000301740.8	+	11	3779	c.3230G>C	c.(3229-3231)aGa>aCa	p.R1077T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1077	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAGAAGTGAGACAGAGTCAT	0.483													4	89					0	0	0	0	C	2813759	G	C	2813759	3	2	116	1	0	0	0	0	1	0	0	0	15259	942	33	2	3268	2	SRRM2	16	2813759	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08		2813759	87540994	80	21984											
ACSM1	116285	broad.mit.edu	37	chr16	20648476	20648476	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtattctttcctacctacTgtgtgtgatgccctggctgc	5	15	10	11	0	1	1	0	1	1	0	2	1	2	1	3	2	4	2	3	2	3	5			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr16:20648476T>A	ENST00000219151.4	-	9	1346	c.136_splice	c.e9+1	p.S46_splice	ACSM1_ENST00000307493.4_Intron|ACSM1_ENST00000520010.1_Intron			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	399					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCTACCTACTGTGTGTGATG	0.453													34	45					0	0	0	0	A	20648476	T	A	20648476	5	1	116	1	0	0	0	0	0	0	1	0	182	1595	55	5		5	ACSM1	16	20648476	Splice_Site	SNP	T	TCGA-CN-A49B-01A-31D-A24D-08	17834717	20648476	69706277	81	21985											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67857567	67857567	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagttcttcatagaggacttCaaaacgtacaagccattact	14	11	7	9	1	3	1	2	0	1	1	3	3	3	2	1	1	4	2	1	1	6	6			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr16:67857567C>G	ENST00000388833.3	+	5	641	c.264C>G	c.(262-264)ttC>ttG	p.F88L	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.F142L|TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000562321.1_Intron	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	88					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TAGAGGACTTCAAAACGTACA	0.498													13	26					0	0	0	0	G	67857567	C	G	67857567	3	3	116	1	0	0	0	0	1	0	0	0	16727	825	29	2	274	2	TSNAXIP1	16	67857567	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	47209091	67857567	22497186	82	21986											
ZFHX3	463	broad.mit.edu	37	chr16	72831849	72831849	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaccggttgctgattcttGaagggctctctttaacttat	7	16	9	9	1	2	3	0	3	2	0	3	3	2	3	1	2	2	3	1	2	3	6			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr16:72831849G>C	ENST00000268489.5	-	9	5404	c.4732C>G	c.(4732-4734)Caa>Gaa	p.Q1578E	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q664E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1578					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGATTCTTGAAGGGCTCTC	0.453													9	72					0	0	0	0	C	72831849	G	C	72831849	3	2	116	1	0	0	0	0	1	0	0	0	17729	1299	45	2	6387	2	ZFHX3	16	72831849	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	4974282	72831849	17522904	83	21987											
CNTNAP4	85445	broad.mit.edu	37	chr16	76556067	76556067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacatgaaggaggcctccCttcaagtggatcagctgaca	12	7	12	10	0	2	2	2	2	0	0	3	5	3	5	2	4	2	1	2	4	3	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr16:76556067C>T	ENST00000307431.8	+	18	3050	c.2665C>T	c.(2665-2667)Ctt>Ttt	p.L889F	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L817F|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L893F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L841F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	890	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAGGCCTCCCTTCAAGTGGA	0.537													36	69					0	0	0	0	T	76556067	C	T	76556067	3	4	116	1	0	0	0	0	1	0	0	0	3679	681	24	4	2747	4	CNTNAP4	16	76556067	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	3724218	76556067	13798686	84	21988											
KIF1C	10749	broad.mit.edu	37	chr17	4923965	4923965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgacataaagctggaaatGgagaagaggtgcgagggggt	14	6	17	4	2	0	2	0	0	0	2	1	6	0	3	0	5	2	1	0	5	4	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:4923965G>T	ENST00000320785.5	+	20	2286	c.1929G>T	c.(1927-1929)atG>atT	p.M643I	KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	643					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						AGCTGGAAATGGAGAAGAGGT	0.632													6	38					3.59834e-05	3.74932e-05	1	0	T	4923965	G	T	4923965	3	4	116	1	0	0	0	0	1	0	0	0	8336	1348	47	4	1999	4	KIF1C	17	4923965	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08		4923965	76271245	85	21989											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	20					0	0	0	0	A	7577094	G	A	7577094	3	1	116	1	0	0	0	0	1	0	0	0	16476	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	2653129	7577094	73618116	86	21990											
ARHGEF15	22899	broad.mit.edu	37	chr17	8216367	8216367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcccccgtcgggcctccccGctgcggacctctcgctcccg	1	7	11	22	6	1	0	0	0	1	0	6	1	4	1	7	2	1	2	7	2	0	0	rs150417950		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:8216367G>A	ENST00000361926.3	+	3	839	c.729G>A	c.(727-729)ccG>ccA	p.P243P	ARHGEF15_ENST00000421050.1_Silent_p.P243P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	243					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GGGCCTCCCCGCTGCGGACCT	0.697													38	82					0	0	0	0	A	8216367	G	A	8216367	2	1	116	1	0	0	0	0	0	0	0	1	900	1074	38	1		1	ARHGEF15	17	8216367	Silent	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	639273	8216367	72978843	87	21991											
MYH13	8735	broad.mit.edu	37	chr17	10222295	10222295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcgtgctgcagggtggcctCctccaggtccctgcgcattt	3	12	12	14	2	0	0	0	0	0	0	4	0	3	0	4	3	3	3	4	3	0	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:10222295C>T	ENST00000418404.3	-	26	3713	c.3550G>A	c.(3550-3552)Gag>Aag	p.E1184K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1184K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1184K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1184					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGGTGGCCTCCTCCAGGTCC	0.592													14	118					0	0	0	0	T	10222295	C	T	10222295	3	4	116	1	0	0	0	0	1	0	0	0	10102	864	30	2	2326	2	MYH13	17	10222295	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	2005928	10222295	70972915	88	21992											
DHRS7B	25979	broad.mit.edu	37	chr17	21075498	21075498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatcacaggcgccacctcagGgctgggcaaaggtgggtcct	8	6	15	12	1	2	0	2	0	0	0	3	1	3	0	3	5	0	2	3	5	1	0			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:21075498G>A	ENST00000395511.3	+	2	508	c.188G>A	c.(187-189)gGg>gAg	p.G63E	DHRS7B_ENST00000579303.1_Missense_Mutation_p.G48E	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	63						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						GCCACCTCAGGGCTGGGCAAA	0.687													3	13					0	0	0	0	A	21075498	G	A	21075498	3	1	116	1	0	0	0	0	1	0	0	0	4533	1232	43	4	194	4	DHRS7B	17	21075498	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	10853203	21075498	60119712	89	21993											
ATAD5	79915	broad.mit.edu	37	chr17	29195371	29195371	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggttgaaagactggaaaaGaagagctgaattggaagaaa	18	8	13	2	0	0	6	0	2	0	4	0	8	0	8	0	3	1	2	0	3	7	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:29195371G>C	ENST00000321990.4	+	12	3632	c.3254G>C	c.(3253-3255)aGa>aCa	p.R1085T		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1085					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GACTGGAAAAGAAGAGCTGAA	0.328													9	30					0	0	0	0	C	29195371	G	C	29195371	3	2	116	1	0	0	0	0	1	0	0	0	1080	942	33	2	3300	2	ATAD5	17	29195371	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	8119873	29195371	51999839	90	21994											
MSL1	339287	broad.mit.edu	37	chr17	38285640	38285640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatctgaaactgtttgtaaaCgtgaattgaggagccaagaa	15	11	10	5	1	1	4	0	3	1	1	1	5	1	5	1	1	3	2	1	1	7	4			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:38285640C>T	ENST00000398532.3	+	3	1450	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	MSL1_ENST00000579565.1_Missense_Mutation_p.R116C|MSL1_ENST00000578648.1_Missense_Mutation_p.R379C|MSL1_ENST00000577454.1_Missense_Mutation_p.R379C			Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	379					histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						TGTTTGTAAACGTGAATTGAG	0.473													13	62					0	0	0	0	T	38285640	C	T	38285640	3	4	116	1	0	0	0	0	1	0	0	0	9947	536	19	1	352	1	MSL1	17	38285640	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	9090269	38285640	42909570	91	21995											
PLEKHH3	79990	broad.mit.edu	37	chr17	40823067	40823067	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccccagccagggctcgctCctgggcccctcgctgctcgt	2	7	11	21	3	0	0	0	0	0	0	4	0	1	0	7	2	2	4	7	2	0	0			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:40823067C>A	ENST00000293349.6	-	9	1796	c.1366G>T	c.(1366-1368)Gag>Tag	p.E456*	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Nonsense_Mutation_p.E456*|PLEKHH3_ENST00000591022.1_Nonsense_Mutation_p.E456*			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	456	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AGGGCTCGCTCCTGGGCCCCT	0.657													8	84					0.0381472	0.038405	1	0	A	40823067	C	A	40823067	4	1	116	1	0	0	0	0	0	1	0	0	12150	864	30	2	1035	2	PLEKHH3	17	40823067	Nonsense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	2537427	40823067	40372143	92	21996											
NAGS	162417	broad.mit.edu	37	chr17	42084858	42084858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcactccatctacgtctccGaggggtaagcctgcggaccc	7	8	11	15	3	2	0	0	0	2	0	4	2	3	1	4	3	4	2	4	3	2	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:42084858G>A	ENST00000293404.3	+	5	1382	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	422	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	CTACGTCTCCGAGGGGTAAGC	0.697											OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	40					0	0	0	0	A	42084858	G	A	42084858	3	1	116	1	0	0	0	0	1	0	0	0	10215	1059	37	1	1282	1	NAGS	17	42084858	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	1261791	42084858	39110352	93	21997											
FMNL1	752	broad.mit.edu	37	chr17	43320687	43320687	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgccaagccattgaggCgtgagtgtccctgtcctggg	6	10	13	12	1	1	2	0	2	1	0	3	2	3	2	4	2	2	0	4	2	1	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:43320687C>T	ENST00000331495.3	+	17	2549	c.2213_splice	c.e17+1	p.A738_splice	FMNL1_ENST00000328118.3_Splice_Site_p.A738_splice|FMNL1_ENST00000587489.1_Splice_Site_p.A316_splice	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	738	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCCATTGAGGCGTGAGTGTCC	0.597													21	35					0	0	0	0	T	43320687	C	T	43320687	5	4	116	1	0	0	0	0	0	0	1	0	5996	782	27	1	2279	1	FMNL1	17	43320687	Splice_Site	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	1235829	43320687	37874523	94	21998											
ASPSCR1	79058	broad.mit.edu	37	chr17	79973010	79973010	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgctgaaacggtgcctGggaccagagcagagaacacg	11	4	13	13	3	0	3	0	1	0	2	1	5	0	4	3	2	4	2	3	2	2	0			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:79973010G>A	ENST00000306729.7	+	13	1510	c.1413G>A	c.(1411-1413)ctG>ctA	p.L471L	ASPSCR1_ENST00000306739.4_Intron|ASPSCR1_ENST00000580534.1_Intron	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	481							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AACGGTGCCTGGGACCAGAGC	0.627			T	TFE3	alveolar soft part sarcoma								7	36					0	0	0	0	A	79973010	G	A	79973010	2	1	116	1	0	0	0	0	0	0	0	1	1063	1363	47	4		4	ASPSCR1	17	79973010	Silent	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	36652323	79973010	1222200	95	21999											
CETN1	1068	broad.mit.edu	37	chr18	580529	580529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaagcatttgacctcttcGacgtggacggaagtgggacc	9	8	15	9	3	1	1	0	1	1	0	2	6	1	5	2	4	1	1	2	4	2	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr18:580529G>A	ENST00000327228.3	+	1	163	c.121G>A	c.(121-123)Gac>Aac	p.D41N		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	41	EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TGACCTCTTCGACGTGGACGG	0.567													6	26					0	0	0	0	A	580529	G	A	580529	3	1	116	1	0	0	0	0	1	0	0	0	3303	1058	37	1	123	1	CETN1	18	580529	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08		580529	77496719	96	22000											
LAMA3	3909	broad.mit.edu	37	chr18	21487589	21487589	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagaagtgatagacaccaAtctcacaactctccgagatg	16	7	8	10	1	2	4	1	1	2	3	4	6	2	4	2	0	1	0	2	0	5	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr18:21487589A>G	ENST00000313654.9	+	53	7035	c.6794A>G	c.(6793-6795)aAt>aGt	p.N2265S	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.N600S|LAMA3_ENST00000399516.3_Missense_Mutation_p.N2209S|LAMA3_ENST00000269217.6_Missense_Mutation_p.N656S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2265	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATAGACACCAATCTCACAACT	0.408													63	105					0	0	0	0	G	21487589	A	G	21487589	3	3	116	1	0	0	0	0	1	0	0	0	8660	101	4	5	7179	5	LAMA3	18	21487589	Missense_Mutation	SNP	A	TCGA-CN-A49B-01A-31D-A24D-08	20907060	21487589	56589659	97	22001											
ZNF521	25925	broad.mit.edu	37	chr18	22805265	22805265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacgtcttcttcgctcccatCgtgactgttgtgggactcct	5	14	9	13	3	2	1	0	1	2	0	6	2	4	2	2	1	1	2	2	1	1	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr18:22805265C>T	ENST00000361524.3	-	4	2765	c.2617G>A	c.(2617-2619)Gat>Aat	p.D873N	ZNF521_ENST00000538137.2_Missense_Mutation_p.D873N|ZNF521_ENST00000584787.1_Missense_Mutation_p.D653N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	873					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCGCTCCCATCGTGACTGTTG	0.527			T	PAX5	ALL								25	59					0	0	0	0	T	22805265	C	T	22805265	3	4	116	1	0	0	0	0	1	0	0	0	18060	884	31	1	1338	1	ZNF521	18	22805265	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	1317676	22805265	55271983	98	22002											
MYO5B	4645	broad.mit.edu	37	chr18	47563359	47563359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggattaatggcaacaagtaCgatacctgcaaacagacaag	18	6	9	8	1	0	1	0	0	0	1	0	3	0	2	1	2	5	3	1	2	7	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr18:47563359C>T	ENST00000285039.7	-	4	615	c.316G>A	c.(316-318)Gta>Ata	p.V106I		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	106	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCAACAAGTACGATACCTGCA	0.453													15	29					0	0	0	0	T	47563359	C	T	47563359	3	4	116	1	0	0	0	0	1	0	0	0	10149	536	19	1	5378	1	MYO5B	18	47563359	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	24758094	47563359	30513889	99	22003											
RAX	30062	broad.mit.edu	37	chr18	56939749	56939749	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttttcttgggctgttcCtcctctgacagtttcgcttc	2	19	8	12	1	2	1	0	1	2	0	6	1	4	1	2	1	1	5	2	1	0	6			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr18:56939749C>G	ENST00000334889.3	-	2	573	c.387G>C	c.(385-387)gaG>gaC	p.E129D	RAX_ENST00000256852.7_Intron	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	129					visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		TGGGCTGTTCCTCCTCTGACA	0.667													16	61					0	0	0	0	G	56939749	C	G	56939749	3	3	116	1	0	0	0	0	1	0	0	0	13178	680	24	4	661	4	RAX	18	56939749	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	9376390	56939749	21137499	100	22004											
THEG	51298	broad.mit.edu	37	chr19	375821	375821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccagctctgcattgtcCaggtcctggcgttcggggtc	3	11	14	13	2	1	0	0	0	1	0	6	0	4	0	3	5	2	3	3	5	0	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:375821C>T	ENST00000342640.4	-	1	192	c.150G>A	c.(148-150)ctG>ctA	p.L50L	THEG_ENST00000346878.2_Silent_p.L50L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	50					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTGCATTGTCCAGGTCCTGGC	0.672													27	55					0	0	0	0	T	375821	C	T	375821	2	4	116	1	0	0	0	0	0	0	0	1	15951	581	21	4		4	THEG	19	375821	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08		375821	58753162	101	22005											
MPND	84954	broad.mit.edu	37	chr19	4357271	4357271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaccagagcctgttcctgCggggcctgtccctggtgggc	3	10	14	14	1	1	1	0	0	1	1	3	1	3	1	5	4	3	1	5	4	1	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:4357271C>T	ENST00000599840.1	+	9	1053	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	MPND_ENST00000262966.8_Missense_Mutation_p.R340W|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000359935.4_Missense_Mutation_p.R290W			Q8N594	MPND_HUMAN	MPN domain containing	340	MPN.						peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTTCCTGCGGGGCCTGTC	0.652													6	23					0	0	0	0	T	4357271	C	T	4357271	3	4	116	1	0	0	0	0	1	0	0	0	9801	759	27	1	1052	1	MPND	19	4357271	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	3981450	4357271	54771712	102	22006											
RFX2	5990	broad.mit.edu	37	chr19	6001995	6001995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctgctccagccgctgcaCcacactctcctcgcactggc	6	8	7	20	2	1	0	0	0	1	0	5	0	3	0	5	1	3	4	5	1	0	0			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:6001995C>T	ENST00000303657.5	-	15	1839	c.1690G>A	c.(1690-1692)Gtg>Atg	p.V564M	RFX2_ENST00000592546.1_Missense_Mutation_p.V539M|RFX2_ENST00000359161.3_Missense_Mutation_p.V564M|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGCCGCTGCACCACACTCTCC	0.657													17	36					0	0	0	0	T	6001995	C	T	6001995	3	4	116	1	0	0	0	0	1	0	0	0	13345	507	18	4	497	4	RFX2	19	6001995	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	1644724	6001995	53126988	103	22007											
COL5A3	50509	broad.mit.edu	37	chr19	10106792	10106792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagacctggatgcccggggaGacccttgggggaggagagat	9	5	18	9	1	0	3	0	0	0	3	0	8	0	6	3	6	1	0	3	6	0	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:10106792G>A	ENST00000264828.3	-	15	1568	c.1483C>T	c.(1483-1485)Ctc>Ttc	p.L495F	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	495	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGCCCGGGGAGACCCTTGGGG	0.592													15	122					0	0	0	0	A	10106792	G	A	10106792	3	1	116	1	0	0	0	0	1	0	0	0	3728	942	33	2	3966	2	COL5A3	19	10106792	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	4104797	10106792	49022191	104	22008											
ZNF566	84924	broad.mit.edu	37	chr19	36964259	36964259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaccaggttgctgtaattCtccaacatcacatctctgta	12	12	6	11	0	3	0	1	0	2	0	5	1	3	0	2	1	3	4	2	1	4	4			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:36964259C>T	ENST00000454319.1	-	3	245	c.111G>A	c.(109-111)gaG>gaA	p.E37E	ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000392170.2_Silent_p.E37E|ZNF566_ENST00000424129.2_Silent_p.E37E|ZNF566_ENST00000434377.2_Silent_p.E37E|ZNF566_ENST00000472909.2_Intron	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGCTGTAATTCTCCAACATCA	0.438													7	93					0	0	0	0	T	36964259	C	T	36964259	2	4	116	1	0	0	0	0	0	0	0	1	18092	912	32	2		2	ZNF566	19	36964259	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	26857467	36964259	22164724	105	22009											
ATP1A3	478	broad.mit.edu	37	chr19	42473056	42473056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaactccaccaccttcctCtgctcgtatgtctgcaggag	7	11	9	14	1	2	1	0	1	2	0	5	2	4	2	4	1	3	3	4	1	2	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:42473056C>G	ENST00000545399.1	-	20	2892	c.2739G>C	c.(2737-2739)caG>caC	p.Q913H	ATP1A3_ENST00000302102.5_Missense_Mutation_p.Q900H|ATP1A3_ENST00000543770.1_Missense_Mutation_p.Q911H|ATP1A3_ENST00000602133.1_Missense_Mutation_p.Q870H	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	900					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCACCTTCCTCTGCTCGTATG	0.622													6	64					0	0	0	0	G	42473056	C	G	42473056	3	3	116	1	0	0	0	0	1	0	0	0	1134	912	32	2	357	2	ATP1A3	19	42473056	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	5508797	42473056	16655927	106	22010											
RUVBL2	10856	broad.mit.edu	37	chr19	49513116	49513116	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaagatgattgagtccctGaccaaggacaaggtccaggc	13	6	11	11	0	0	4	0	3	0	1	2	5	2	5	4	3	0	0	4	3	3	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:49513116G>C	ENST00000413176.2	+	7	1559	c.411G>C	c.(409-411)ctG>ctC	p.L137L	RUVBL2_ENST00000601968.1_Silent_p.L137L|RUVBL2_ENST00000595090.1_Silent_p.L182L			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	182					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TTGAGTCCCTGACCAAGGACA	0.612													9	109					0	0	0	0	C	49513116	G	C	49513116	2	2	116	1	0	0	0	0	0	0	0	1	13838	1277	45	2		2	RUVBL2	19	49513116	Silent	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	7040060	49513116	9615867	107	22011											
ZNF584	201514	broad.mit.edu	37	chr19	58926999	58926999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagagcagaagccaggaGaggttttggtcttggtaagt	11	9	15	6	0	1	3	0	0	1	3	1	4	1	3	1	4	3	4	1	4	2	4			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:58926999G>C	ENST00000306910.4	+	3	801	c.278G>C	c.(277-279)aGa>aCa	p.R93T	ZNF584_ENST00000593920.1_Missense_Mutation_p.R48T|ZNF584_ENST00000599238.1_Missense_Mutation_p.R48T|ZNF584_ENST00000322834.7_Missense_Mutation_p.R85T|ZNF584_ENST00000596921.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GAAGCCAGGAGAGGTTTTGGT	0.542													5	42					0	0	0	0	C	58926999	G	C	58926999	3	2	116	1	0	0	0	0	1	0	0	0	18111	942	33	2	288	2	ZNF584	19	58926999	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	9413883	58926999	201984	108	22012											
NINL	22981	broad.mit.edu	37	chr20	25434176	25434176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggctttgtttctcggCgcctcgctgcttctcctcgg	1	13	13	14	5	2	0	0	0	2	0	6	1	2	0	2	4	1	4	2	4	0	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr20:25434176C>T	ENST00000278886.6	-	24	4133	c.4060G>A	c.(4060-4062)Gcc>Acc	p.A1354T	NINL_ENST00000422516.1_Missense_Mutation_p.A1005T|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1354					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGTTTCTCGGCGCCTCGCTGC	0.547													30	35					0	0	0	0	T	25434176	C	T	25434176	3	4	116	1	0	0	0	0	1	0	0	0	10490	768	27	1	92	1	NINL	20	25434176	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08		25434176	37591344	109	22013											
DDX27	55661	broad.mit.edu	37	chr20	47852933	47852933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgggtggggcgaacagcaCgtgctggcagggctgggcgc	6	4	20	11	4	0	0	0	0	0	0	0	1	0	0	1	6	3	4	1	6	1	0			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr20:47852933C>T	ENST00000371764.4	+	14	1675	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	556	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCGAACAGCACGTGCTGGCAG	0.537													18	85					0	0	0	0	T	47852933	C	T	47852933	3	4	116	1	0	0	0	0	1	0	0	0	4386	536	19	1	1720	1	DDX27	20	47852933	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	22418757	47852933	15172587	110	22014											
ZNF831	128611	broad.mit.edu	37	chr20	57769098	57769098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcatcctggaggacccCagctgttccaggccacagga	10	5	12	14	0	0	0	0	0	0	0	2	4	2	3	5	4	2	3	5	4	0	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr20:57769098C>T	ENST00000371030.2	+	1	3024	c.3024C>T	c.(3022-3024)ccC>ccT	p.P1008P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1008						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGAGGACCCCAGCTGTTCCA	0.647													4	28					0	0	0	0	T	57769098	C	T	57769098	2	4	116	1	0	0	0	0	0	0	0	1	18278	581	21	4		4	ZNF831	20	57769098	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	9916165	57769098	5256422	111	22015											
KRTAP19-2	337969	broad.mit.edu	37	chr21	31859652	31859652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgccacatccacagcCgtagccatagcacatgccac	12	5	8	16	1	0	0	0	0	0	0	1	1	1	0	5	0	6	3	5	0	3	2			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr21:31859652C>T	ENST00000334055.3	-	1	103	c.16G>A	c.(16-18)Ggc>Agc	p.G6S		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	6						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CATCCACAGCCGTAGCCATAG	0.567													39	74					0	0	0	0	T	31859652	C	T	31859652	3	4	116	1	0	0	0	0	1	0	0	0	8581	652	23	1	144	1	KRTAP19-2	21	31859652	Missense_Mutation	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08		31859652	16270243	112	22016											
ADARB1	104	broad.mit.edu	37	chr21	46596043	46596043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaggccttgaggtctttcGttcagtttcctaatgcctct	7	15	9	10	1	3	2	1	1	2	1	5	2	4	2	3	2	1	2	3	2	2	5			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr21:46596043G>A	ENST00000539173.1	+	4	862	c.427G>A	c.(427-429)Gtt>Att	p.V143I	ADARB1_ENST00000348831.4_Missense_Mutation_p.V143I|ADARB1_ENST00000360697.3_Missense_Mutation_p.V143I|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000389863.4_Missense_Mutation_p.V143I	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	143	DRBM 1.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GAGGTCTTTCGTTCAGTTTCC	0.542													18	16					0	0	0	0	A	46596043	G	A	46596043	3	1	116	1	0	0	0	0	1	0	0	0	282	1145	40	1	433	1	ADARB1	21	46596043	Missense_Mutation	SNP	G	TCGA-CN-A49B-01A-31D-A24D-08	14736391	46596043	1533852	113	22017											
PEX26	55670	broad.mit.edu	37	chr22	18570817	18570817	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggctgcattttctcgcctCtaccagctccgcatccgtga	7	11	8	15	3	2	1	0	1	2	0	5	1	4	1	4	1	3	4	4	1	2	3			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr22:18570817C>G	ENST00000329627.6	+	6	1100	c.894C>G	c.(892-894)ctC>ctG	p.L298L	PEX26_ENST00000428061.2_Silent_p.L249L|PEX26_ENST00000399744.3_Silent_p.L298L	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	298					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTTCTCGCCTCTACCAGCTCC	0.617													15	114					0	0	0	0	G	18570817	C	G	18570817	2	3	116	1	0	0	0	0	0	0	0	1	11818	900	32	2		2	PEX26	22	18570817	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08		18570817	32733749	114	22018											
MICALL1	85377	broad.mit.edu	37	chr22	38336828	38336828	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcaagtcccccagagaCaagagctaacagcacgagaa	18	2	10	11	1	0	4	0	0	0	4	1	6	1	4	2	0	4	3	2	0	5	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr22:38336828C>T	ENST00000215957.6	+	16	2709	c.2583C>T	c.(2581-2583)gaC>gaT	p.D861D	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	861						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CCCCCAGAGACAAGAGCTAAC	0.562													8	39					0	0	0	0	T	38336828	C	T	38336828	2	4	116	1	0	0	0	0	0	0	0	1	9642	477	17	4		4	MICALL1	22	38336828	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	19766011	38336828	12967738	115	22019											
EFHC2	80258	broad.mit.edu	37	chrX	44171825	44171825	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgacttacctgtttatcaaAggctacccatgatggtacat	11	13	8	9	0	1	2	1	2	0	0	1	2	1	2	2	2	3	3	2	2	5	5			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chrX:44171825A>T	ENST00000420999.1	-	2	303	c.220T>A	c.(220-222)Ttt>Att	p.F74I		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	74							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TGTTTATCAAAGGCTACCCAT	0.403													6	7					0	0	0	0	T	44171825	A	T	44171825	3	4	116	1	0	0	0	0	1	0	0	0	4983	72	3	5	2085	5	EFHC2	23	44171825	Missense_Mutation	SNP	A	TCGA-CN-A49B-01A-31D-A24D-08		44171825	111098735	116	22020											
BCORL1	63035	broad.mit.edu	37	chrX	129148036	129148036	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcagctcaggcaccagctAtgcaaaaagtccccctgtcc	10	7	8	16	0	1	0	1	0	0	0	3	0	3	0	4	1	4	5	4	1	3	1			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chrX:129148036A>G	ENST00000540052.1	+	3	1332	c.1288A>G	c.(1288-1290)Atg>Gtg	p.M430V	BCORL1_ENST00000218147.7_Missense_Mutation_p.M430V|BCORL1_ENST00000359304.2_Missense_Mutation_p.M430V|BCORL1_ENST00000303743.5_Missense_Mutation_p.M430V	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	430	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGCACCAGCTATGCAAAAAGT	0.602													24	9					0	0	0	0	G	129148036	A	G	129148036	3	3	116	1	0	0	0	0	1	0	0	0	1391	449	16	5	1298	5	BCORL1	23	129148036	Missense_Mutation	SNP	A	TCGA-CN-A49B-01A-31D-A24D-08	84976211	129148036	26122524	117	22021											
CTAG2	30848	broad.mit.edu	37	chrX	153880469	153880469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcactgcgtgatccacatCaacagggaaagctgctggag	13	6	12	10	1	1	1	1	1	0	0	2	3	2	3	1	2	5	3	1	2	3	0			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chrX:153880469C>T	ENST00000369585.3	-	3	529	c.477G>A	c.(475-477)ttG>ttA	p.L159L	CTAG2_ENST00000247306.4_3'UTR	NM_172377.3	NP_758965.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	0						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGATCCACATCAACAGGGAAA	0.592													9	30					0	0	0	0	T	153880469	C	T	153880469	2	4	116	1	0	0	0	0	0	0	0	1	4023	825	29	2		2	CTAG2	23	153880469	Silent	SNP	C	TCGA-CN-A49B-01A-31D-A24D-08	24732433	153880469	1390091	118	22022											
MAGI3	260425	broad.mit.edu	37	chr1	114193780	114193780	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcatgacaactgctgctCgaaatggccatgtgttacta	11	11	8	11	1	1	1	1	1	0	0	2	2	1	1	2	1	4	3	2	1	4	2			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr1:114193780C>T	ENST00000369615.1	+	14	2454	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	MAGI3_ENST00000369611.4_Nonsense_Mutation_p.R798*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.R823*|MAGI3_ENST00000307546.9_Nonsense_Mutation_p.R798*	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	823	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACTGCTGCTCGAAATGGCCA	0.428													9	56					0	0	0	0	T	114193780	C	T	114193780	4	4	117	1	0	0	0	0	0	1	0	0	9261	876	31	1	2446	1	MAGI3	1	114193780	Nonsense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08		114193780	135056841	1	22023											
FCRLA	84824	broad.mit.edu	37	chr1	161680622	161680622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgccacacggaggatgActtgactgatgcaagggaag	12	6	14	9	1	0	3	0	3	0	0	0	6	0	6	1	3	3	2	1	3	2	1			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr1:161680622A>G	ENST00000540926.1	+	3	463	c.170A>G	c.(169-171)gAc>gGc	p.D57G	FCRLA_ENST00000367953.3_Missense_Mutation_p.D57G|FCRLA_ENST00000309691.6_Missense_Mutation_p.D51G|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.D68G|FCRLA_ENST00000546024.1_Missense_Mutation_p.D68G|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367949.2_Missense_Mutation_p.D68G|FCRLA_ENST00000367950.1_Missense_Mutation_p.D28G|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.D74G|FCRLA_ENST00000349527.4_Missense_Mutation_p.D51G|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A	51					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACGGAGGATGACTTGACTGAT	0.572													28	38					0	0	0	0	G	161680622	A	G	161680622	3	3	117	1	0	0	0	0	1	0	0	0	5845	275	10	5	231	5	FCRLA	1	161680622	Missense_Mutation	SNP	A	TCGA-CN-A49C-01A-11D-A24D-08	47486842	161680622	87569999	2	22024											
F5	2153	broad.mit.edu	37	chr1	169500137	169500137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgctatttggctgaacagCattatcttccttaaaccatt	11	15	5	10	0	1	1	0	1	1	0	2	1	2	1	2	1	4	3	2	1	5	6			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr1:169500137C>T	ENST00000367796.3	-	15	5311	c.5110G>A	c.(5110-5112)Gct>Act	p.A1704T	F5_ENST00000367797.3_Missense_Mutation_p.A1699T			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1699	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGCTGAACAGCATTATCTTCC	0.473													26	166					0	0	0	0	T	169500137	C	T	169500137	3	4	117	1	0	0	0	0	1	0	0	0	5386	710	25	4	1623	4	F5	1	169500137	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	7819515	169500137	79750484	3	22025											
DPP10	57628	broad.mit.edu	37	chr2	116548892	116548892	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagttgtcccttcccaaaGattttatggaccgaaaccag	12	11	7	11	1	0	1	0	0	0	1	2	3	2	2	4	1	2	1	4	1	4	5			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr2:116548892G>C	ENST00000410059.1	+	19	2140	c.1660G>C	c.(1660-1662)Gat>Cat	p.D554H	DPP10_ENST00000310323.8_Missense_Mutation_p.D547H|DPP10_ENST00000393147.2_Missense_Mutation_p.D558H|DPP10_ENST00000409163.1_Missense_Mutation_p.D504H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	554					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCTTCCCAAAGATTTTATGGA	0.299													26	35					0	0	0	0	C	116548892	G	C	116548892	3	2	117	1	0	0	0	0	1	0	0	0	4763	942	33	2	1905	2	DPP10	2	116548892	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08		116548892	126650481	4	22026											
COL5A2	1290	broad.mit.edu	37	chr2	189932828	189932828	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagccaggaggaccagaggtAcctggagagccctattaaac	13	5	13	10	0	0	2	0	0	0	2	0	6	0	4	4	4	4	1	4	4	4	3			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr2:189932828A>T	ENST00000374866.3	-	21	1588	c.1314T>A	c.(1312-1314)ggT>ggA	p.G438G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	438					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GACCAGAGGTACCTGGAGAGC	0.532													49	50					0	0	0	0	T	189932828	A	T	189932828	2	4	117	1	0	0	0	0	0	0	0	1	3727	378	14	5		5	COL5A2	2	189932828	Silent	SNP	A	TCGA-CN-A49C-01A-11D-A24D-08	73383936	189932828	53266545	5	22027											
PLCL1	5334	broad.mit.edu	37	chr2	198949350	198949350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaagagggacgtcaaaaagGgtttcttgcaattgatggct	12	11	13	5	1	2	3	1	2	1	1	2	4	2	4	0	3	1	3	0	3	4	3			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr2:198949350G>A	ENST00000428675.1	+	2	1507	c.1109G>A	c.(1108-1110)gGg>gAg	p.G370E	PLCL1_ENST00000437704.2_Missense_Mutation_p.G272E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	370					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGTCAAAAAGGGTTTCTTGCA	0.413													8	153					0	0	0	0	A	198949350	G	A	198949350	3	1	117	1	0	0	0	0	1	0	0	0	12111	1232	43	4	1115	4	PLCL1	2	198949350	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	9016522	198949350	44250023	6	22028											
RAPH1	65059	broad.mit.edu	37	chr2	204305714	204305714	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtggaagggatggggcAcacggtgcaggctttagctg	9	8	17	7	1	0	0	0	0	0	0	0	2	0	2	0	6	3	4	0	6	3	2			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr2:204305714A>G	ENST00000319170.5	-	14	2498	c.2199T>C	c.(2197-2199)tgT>tgC	p.C733C	RAPH1_ENST00000374493.3_Silent_p.C785C|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	733					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGATGGGGCACACGGTGCAG	0.622													8	80					0	0	0	0	G	204305714	A	G	204305714	2	3	117	1	0	0	0	0	0	0	0	1	13132	157	6	5		5	RAPH1	2	204305714	Silent	SNP	A	TCGA-CN-A49C-01A-11D-A24D-08	5356364	204305714	38893659	7	22029											
EPHA3	2042	broad.mit.edu	37	chr3	89390120	89390120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatgaagtgtgctaagtGcccgcctcacagttctactc	10	12	8	11	1	2	1	1	1	1	0	3	1	2	1	2	0	3	2	2	0	5	5			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr3:89390120G>T	ENST00000336596.2	+	4	1094	c.869G>T	c.(868-870)tGc>tTc	p.C290F	EPHA3_ENST00000494014.1_Missense_Mutation_p.C290F|EPHA3_ENST00000452448.2_Missense_Mutation_p.C290F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	290	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTGCTAAGTGCCCGCCTCAC	0.423										TSP Lung(6;0.00050)			9	142					0.0581538	0.0581538	1	0	T	89390120	G	T	89390120	3	4	117	1	0	0	0	0	1	0	0	0	5206	1319	46	4	883	4	EPHA3	3	89390120	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08		89390120	108632310	8	22030											
DCBLD2	131566	broad.mit.edu	37	chr3	98538221	98538221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgttatttgaggatcCgcgatcacaccagactccat	10	11	9	11	2	1	2	1	1	0	1	3	5	3	3	3	1	1	2	3	1	1	2			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr3:98538221C>T	ENST00000326840.6	-	8	1274	c.912G>A	c.(910-912)gcG>gcA	p.A304A	DCBLD2_ENST00000326857.9_Silent_p.A304A	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	304	F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TTTGAGGATCCGCGATCACAC	0.443													11	73					0	0	0	0	T	98538221	C	T	98538221	2	4	117	1	0	0	0	0	0	0	0	1	4313	639	23	1		1	DCBLD2	3	98538221	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	9148101	98538221	99484209	9	22031											
OPA1	4976	broad.mit.edu	37	chr3	193332546	193332546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttagtgaaacacagctctGgaataaaaggaagtttacca	16	10	8	7	0	1	1	0	1	1	0	1	3	1	3	1	2	3	2	1	2	7	5			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr3:193332546G>A	ENST00000361510.2	+	2	301	c.67G>A	c.(67-69)Gga>Aga	p.G23R	OPA1_ENST00000361150.2_Missense_Mutation_p.G23R|OPA1_ENST00000361715.2_Missense_Mutation_p.G23R|OPA1_ENST00000361908.3_Missense_Mutation_p.G23R|OPA1_ENST00000361828.2_Missense_Mutation_p.G23R|OPA1_ENST00000392438.3_Missense_Mutation_p.G23R	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	23					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ACACAGCTCTGGAATAAAAGG	0.368													9	182					0	0	0	0	A	193332546	G	A	193332546	3	1	117	1	0	0	0	0	1	0	0	0	10942	1349	47	4	73	4	OPA1	3	193332546	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	94794325	193332546	4689884	10	22032											
SLC39A8	64116	broad.mit.edu	37	chr4	103236897	103236897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagttcaattgctgtaagaCtgctggacagatgacagaga	15	9	11	6	0	1	4	1	1	0	3	1	6	1	5	0	1	2	4	0	1	3	3			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr4:103236897C>T	ENST00000424970.2	-	3	625	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000394833.2_Missense_Mutation_p.V104I|SLC39A8_ENST00000356736.4_Missense_Mutation_p.V104I	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	104						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TGCTGTAAGACTGCTGGACAG	0.393													16	115					0	0	0	0	T	103236897	C	T	103236897	3	4	117	1	0	0	0	0	1	0	0	0	14712	565	20	4	1177	4	SLC39A8	4	103236897	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08		103236897	87917379	11	22033											
DNAH5	1767	broad.mit.edu	37	chr5	13864593	13864593	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacatccagactgtgcccGgtgagggtggttatcctttc	6	11	11	13	1	0	2	0	1	0	1	3	2	2	2	4	3	1	1	4	3	1	2	rs138157585	byFrequency	TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr5:13864593G>A	ENST00000265104.4	-	28	4613	c.4509C>T	c.(4507-4509)acC>acT	p.T1503T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1503	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTGTGCCCGGTGAGGGTGG	0.458									Kartagener syndrome				24	41					0	0	0	0	A	13864593	G	A	13864593	2	1	117	1	0	0	0	0	0	0	0	1	4641	1103	39	1		1	DNAH5	5	13864593	Silent	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08		13864593	167050667	12	22034											
PIK3R1	5295	broad.mit.edu	37	chr5	67591132	67591134	+	In_Frame_Del	DEL	GAC	GAC	-																															gaccttatccagctgagaaaGacgagagaccaatacttgat																										TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr5:67591132_67591134delGAC	ENST00000521381.1	+	13	2341_2343	c.1725_1727delGAC	c.(1723-1728)aag>aa	p.KT575del	PIK3R1_ENST00000274335.5_In_Frame_Del_p.KT575del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.KT305del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.KT575del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.KT575del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.KT275del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.KT212del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	575					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.T576del(3)|p.R574_T576del(2)|p.L570_D578del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGCTGAGAAAGACGAGAGACCAA	0.374			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			11	134	---	---	---	---					-	67591134	GAC	-	67591132	7	5	117	1	0	1	0	1	0	0	0	0	11990	933	33	0	1901	0	PIK3R1	5	67591132	In_Frame_Del	DEL	GAC	TCGA-CN-A49C-01A-11D-A24D-08	53726539	67591132	113324128	13	22035											
ISOC1	51015	broad.mit.edu	37	chr5	128430636	128430636	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttcctcagcctgtacggCgaccagatcgacatgcaccg	10	7	10	14	4	1	1	1	0	0	1	3	3	2	1	4	1	3	3	4	1	2	2			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr5:128430636C>T	ENST00000173527.5	+	1	193	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	59						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		GCCTGTACGGCGACCAGATCG	0.632													13	14					0	0	0	0	T	128430636	C	T	128430636	2	4	117	1	0	0	0	0	0	0	0	1	7915	755	27	1		1	ISOC1	5	128430636	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	60839504	128430636	52484624	14	22036											
DOCK2	1794	broad.mit.edu	37	chr5	169111349	169111349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccccaacaagcaaacggtCataaggtaggtgtgtccagg	13	6	12	10	1	1	0	1	0	0	0	2	1	2	0	3	4	3	2	3	4	5	2			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr5:169111349C>T	ENST00000256935.8	+	8	836	c.756C>T	c.(754-756)gtC>gtT	p.V252V		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	252					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCAAACGGTCATAAGGTAGG	0.488													15	92					0	0	0	0	T	169111349	C	T	169111349	2	4	117	1	0	0	0	0	0	0	0	1	4723	813	29	2		2	DOCK2	5	169111349	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	40680713	169111349	11803911	15	22037											
RUFY1	80230	broad.mit.edu	37	chr5	179004076	179004076	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcattttatttcgtttagGttggagtaatagatttttcc	8	20	9	4	1	0	1	0	0	0	1	2	2	1	2	1	2	1	4	1	2	4	10			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr5:179004076G>C	ENST00000377001.2	+	6	829	c.828_splice	c.e6-1	p.V277_splice	RUFY1_ENST00000437570.2_Splice_Site_p.V169_splice|RUFY1_ENST00000393438.2_Splice_Site_p.V169_splice|RUFY1_ENST00000319449.4_Splice_Site_p.V277_splice			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	277					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTCGTTTAGGTTGGAGTAAT	0.308										HNSCC(44;0.11)			25	51					0	0	0	0	C	179004076	G	C	179004076	5	2	117	1	0	0	0	0	0	0	1	0	13823	1275	44	4	851	4	RUFY1	5	179004076	Splice_Site	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	9892727	179004076	1911184	16	22038											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28333342	28333342	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctggtgaacaggagggCaggctacaaagaaagcagaa	17	3	15	6	0	0	3	0	1	0	2	0	5	0	4	0	4	4	4	0	4	6	1			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr6:28333342C>T	ENST00000377255.3	+	7	1194	c.897C>T	c.(895-897)ggC>ggT	p.G299G	ZKSCAN3_ENST00000341464.5_Silent_p.G151G|ZKSCAN3_ENST00000252211.2_Silent_p.G299G	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	299					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AACAGGAGGGCAGGCTACAAA	0.502													5	83					0	0	0	0	T	28333342	C	T	28333342	2	4	117	1	0	0	0	0	0	0	0	1	17783	697	25	4		4	ZKSCAN3	6	28333342	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08		28333342	142781725	17	22039											
ITPR3	3710	broad.mit.edu	37	chr6	33643520	33643520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcggccgcatgttcctgCgcgtgctcatccacctcacc	5	8	11	17	4	2	0	2	0	0	0	4	0	4	0	5	2	2	3	5	2	0	1			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr6:33643520C>T	ENST00000374316.5	+	26	4229	c.3169C>T	c.(3169-3171)Cgc>Tgc	p.R1057C	ITPR3_ENST00000605930.1_Missense_Mutation_p.R1057C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1057					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CATGTTCCTGCGCGTGCTCAT	0.647													4	40					0	0	0	0	T	33643520	C	T	33643520	3	4	117	1	0	0	0	0	1	0	0	0	7975	768	27	1	3267	1	ITPR3	6	33643520	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	5310178	33643520	137471547	18	22040											
HSP90AB1	3326	broad.mit.edu	37	chr6	44218816	44218816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtcagttggaattcaGggcattgctatttattcctc	10	14	10	7	0	2	1	2	0	0	1	4	2	3	2	1	3	1	3	1	3	4	7			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr6:44218816G>A	ENST00000371554.1	+	7	1203	c.989G>A	c.(988-990)aGg>aAg	p.R330K	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R330K|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R330K			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	330					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGGAATTCAGGGCATTGCTA	0.398													85	123					0	0	0	0	A	44218816	G	A	44218816	3	1	117	1	0	0	0	0	1	0	0	0	7454	1000	35	4	1011	4	HSP90AB1	6	44218816	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	10575296	44218816	126896251	19	22041											
HTR1B	3351	broad.mit.edu	37	chr6	78172530	78172530	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgttcaccacgcattcCgacacctcctcttcggcctt	5	12	7	17	4	2	0	1	0	1	0	6	1	4	0	5	2	0	2	5	2	0	4			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr6:78172530C>T	ENST00000369947.2	-	1	960	c.591G>A	c.(589-591)tcG>tcA	p.S197S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	197					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CCACGCATTCCGACACCTCCT	0.607													4	71					0	0	0	0	T	78172530	C	T	78172530	2	4	117	1	0	0	0	0	0	0	0	1	7490	639	23	1		1	HTR1B	6	78172530	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	33953714	78172530	92942537	20	22042											
ZNF804B	219578	broad.mit.edu	37	chr7	88963928	88963928	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgatgatagctaatccggaTtgggaaaaattccagaggaa	16	8	11	6	2	0	2	0	1	0	1	2	6	2	5	2	3	1	1	2	3	5	4			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr7:88963928T>C	ENST00000333190.4	+	4	2241	c.1632T>C	c.(1630-1632)gaT>gaC	p.D544D		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	544						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTAATCCGGATTGGGAAAAAT	0.348										HNSCC(36;0.09)			8	47					0	0	0	0	C	88963928	T	C	88963928	2	2	117	1	0	0	0	0	0	0	0	1	18264	1490	52	5		5	ZNF804B	7	88963928	Silent	SNP	T	TCGA-CN-A49C-01A-11D-A24D-08		88963928	70174735	21	22043											
C7orf61	402573	broad.mit.edu	37	chr7	100061023	100061023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccagccgctctgcagggcaGagaccatgagcgtggagaca	10	4	15	12	2	1	3	0	1	1	2	1	5	1	3	3	2	3	3	3	2	0	0			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr7:100061023G>A	ENST00000332375.3	-	2	595	c.350C>T	c.(349-351)tCt>tTt	p.S117F	TSC22D4_ENST00000496728.1_5'UTR	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61	117										central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						CTGCAGGGCAGAGACCATGAG	0.627													50	71					0	0	0	0	A	100061023	G	A	100061023	3	1	117	1	0	0	0	0	1	0	0	0	2431	942	33	2	278	2	C7orf61	7	100061023	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	11097095	100061023	59077640	22	22044											
GIGYF1	64599	broad.mit.edu	37	chr7	100279950	100279950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgctcgcccaccgtccAggctgcccgtggcgctcagc	4	5	13	19	5	1	0	1	0	0	0	3	1	2	0	5	2	3	3	5	2	0	0			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr7:100279950A>G	ENST00000275732.5	-	21	3965	c.2756T>C	c.(2755-2757)cTg>cCg	p.L919P		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	919										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCCACCGTCCAGGCTGCCCGT	0.697													20	32					0	0	0	0	G	100279950	A	G	100279950	3	3	117	1	0	0	0	0	1	0	0	0	6428	188	7	5	367	5	GIGYF1	7	100279950	Missense_Mutation	SNP	A	TCGA-CN-A49C-01A-11D-A24D-08	218927	100279950	58858713	23	22045											
FLNC	2318	broad.mit.edu	37	chr7	128484980	128484981	+	Frame_Shift_Del	DEL	AC	AC	-																															caccattcggcctgtgtttgAcccgagcaaggtgcgggcca																										TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr7:128484980_128484981delAC	ENST00000325888.8	+	21	3722_3723	c.3461_3462delAC	c.(3460-3462)gfs	p.D1154fs	FLNC_ENST00000346177.6_Frame_Shift_Del_p.D1154fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1154					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						CCTGTGTTTGACCCGAGCAAGG	0.649													26	29	---	---	---	---					-	128484981	AC	-	128484980	7	5	117	1	0	1	0	1	0	0	0	0	5980	275	10	0	3543	0	FLNC	7	128484980	Frame_Shift_Del	DEL	AC	TCGA-CN-A49C-01A-11D-A24D-08	28205030	128484980	30653683	24	22046											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24254856	24254856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacgagaaagaacatgccGtctttacatctaaccaggag	15	7	9	10	2	2	3	0	0	2	3	2	5	2	4	2	1	4	0	2	1	4	3			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr8:24254856G>A	ENST00000538205.1	+	7	824	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.V172I|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.V93I|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	172					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			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)		AGAACATGCCGTCTTTACATC	0.433													76	168					0	0	0	0	A	24254856	G	A	24254856	3	1	117	1	0	0	0	0	1	0	0	0	254	1145	40	1	536	1	ADAMDEC1	8	24254856	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08		24254856	122109166	25	22047											
DSCC1	79075	broad.mit.edu	37	chr8	120847202	120847202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaatgagaatatttagtGagtaatgcacctatggtttg	14	13	11	3	0	0	3	0	2	0	2	0	5	0	3	1	1	1	3	1	1	7	6			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr8:120847202G>A	ENST00000313655.4	-	9	1327	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	371					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATATTTAGTGAGTAATGCAC	0.318													15	36					0	0	0	0	A	120847202	G	A	120847202	2	1	117	1	0	0	0	0	0	0	0	1	4806	1277	45	2		2	DSCC1	8	120847202	Silent	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	96592346	120847202	25516820	26	22048											
KIAA2026	158358	broad.mit.edu	37	chr9	5969242	5969242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgaggcatcagaagacaaCgttccaattcgtaaaagact	16	8	8	9	2	1	4	1	1	0	3	3	4	2	4	1	1	1	3	1	1	5	3			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr9:5969242C>T	ENST00000399933.3	-	3	988	c.989G>A	c.(988-990)cGt>cAt	p.R330H	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R330H	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	330								p.R330H(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CAGAAGACAACGTTCCAATTC	0.398													20	37					0	0	0	0	T	5969242	C	T	5969242	3	4	117	1	0	0	0	0	1	0	0	0	8321	536	19	1	5346	1	KIAA2026	9	5969242	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08		5969242	135244189	27	22049											
GRHPR	9380	broad.mit.edu	37	chr9	37428545	37428545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactcacgcagagcactgtcGgcatcatcgggctggggcgc	7	6	15	13	4	2	1	2	0	0	1	4	2	2	1	0	4	1	4	0	4	0	0			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr9:37428545G>A	ENST00000607784.1	+	5	474	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	GRHPR_ENST00000318158.6_Missense_Mutation_p.G157S|GRHPR_ENST00000493368.1_3'UTR			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	157					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GAGCACTGTCGGCATCATCGG	0.667													16	154					0	0	0	0	A	37428545	G	A	37428545	3	1	117	1	0	0	0	0	1	0	0	0	6816	1116	39	1	487	1	GRHPR	9	37428545	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	31459303	37428545	103784886	28	22050											
CDC123	8872	broad.mit.edu	37	chr10	12277056	12277056	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttacagctcgttctcCgaaaatggtgtgaattgatt	9	17	9	6	2	1	2	0	2	1	0	3	3	1	2	1	1	2	3	1	1	4	6			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr10:12277056C>T	ENST00000281141.4	+	8	779	c.499C>T	c.(499-501)Cga>Tga	p.R167*	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Nonsense_Mutation_p.R167*	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	167					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						GCTCGTTCTCCGAAAATGGTG	0.343													38	72					0	0	0	0	T	12277056	C	T	12277056	4	4	117	1	0	0	0	0	0	1	0	0	3084	644	23	1	529	1	CDC123	10	12277056	Nonsense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08		12277056	123257691	29	22051											
SLC16A9	220963	broad.mit.edu	37	chr10	61412622	61412622	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagagggcaaggctgccaGcagcagaataaaacctccca	15	3	10	13	0	0	2	0	0	0	2	1	2	1	2	4	2	4	4	4	2	5	1			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr10:61412622G>A	ENST00000395348.3	-	6	2074	c.1438C>T	c.(1438-1440)Ctg>Ttg	p.L480L	SLC16A9_ENST00000395347.1_Silent_p.L480L	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	480					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AAGGCTGCCAGCAGCAGAATA	0.443													5	122					0	0	0	0	A	61412622	G	A	61412622	2	1	117	1	0	0	0	0	0	0	0	1	14503	962	34	4		4	SLC16A9	10	61412622	Silent	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	49135566	61412622	74122125	30	22052											
OR51I2	390064	broad.mit.edu	37	chr11	5474874	5474874	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggctgtgcgagtggaGcccagcctccatgagcccat	7	7	13	14	1	0	1	0	1	0	0	1	3	1	2	4	2	5	2	4	2	0	0			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:5474874G>A	ENST00000341449.2	+	1	237	c.156G>A	c.(154-156)gaG>gaA	p.E52E	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCGAGTGGAGCCCAGCCTCC	0.572													42	20					0	0	0	0	A	5474874	G	A	5474874	2	1	117	1	0	0	0	0	0	0	0	1	11172	962	34	4		4	OR51I2	11	5474874	Silent	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08		5474874	129531642	31	22053											
OR5D13	390142	broad.mit.edu	37	chr11	55541562	55541562	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagcagcctaattatcattCtgacatcatatatgcttatt	12	16	5	8	0	3	2	2	2	1	0	3	2	3	2	1	0	3	2	1	0	5	7			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:55541562C>T	ENST00000361760.1	+	1	649	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AATTATCATTCTGACATCATA	0.438													7	184					0	0	0	0	T	55541562	C	T	55541562	2	4	117	1	0	0	0	0	0	0	0	1	11225	912	32	2		2	OR5D13	11	55541562	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	50066688	55541562	79464954	32	22054											
CPSF7	79869	broad.mit.edu	37	chr11	61183738	61183738	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggtaatcgaggaggtggGggcatgagatgctggtagtg	9	8	21	3	1	0	1	0	1	0	1	1	5	0	3	0	7	1	4	0	7	2	2			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:61183738G>A	ENST00000340437.4	-	6	1013	c.933C>T	c.(931-933)ccC>ccT	p.P311P	CPSF7_ENST00000394888.4_Silent_p.P268P|CPSF7_ENST00000448745.1_Silent_p.P259P|CPSF7_ENST00000439958.3_Silent_p.P259P	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	268	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GAGGAGGTGGGGGCATGAGAT	0.607													38	19					0	0	0	0	A	61183738	G	A	61183738	2	1	117	1	0	0	0	0	0	0	0	1	3860	1219	43	4		4	CPSF7	11	61183738	Silent	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	5642176	61183738	73822778	33	22055											
TAF6L	10629	broad.mit.edu	37	chr11	62549756	62549756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaaccccctgaatgacCactggactctgcgggatggg	9	7	11	14	1	2	2	1	2	1	0	2	4	2	4	4	3	2	0	4	3	2	0			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:62549756C>T	ENST00000294168.3	+	8	979	c.778C>T	c.(778-780)Cac>Tac	p.H260Y	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	260					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CCTGAATGACCACTGGACTCT	0.627													35	51					0	0	0	0	T	62549756	C	T	62549756	3	4	117	1	0	0	0	0	1	0	0	0	15622	594	21	4	804	4	TAF6L	11	62549756	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	1366018	62549756	72456760	34	22056											
SPDYC	387778	broad.mit.edu	37	chr11	64939779	64939779	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaagctcagcgagtatacCcacagcagcctgttcttggc	9	9	10	13	1	2	1	1	1	1	0	2	2	2	1	2	1	5	4	2	1	3	4			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:64939779C>T	ENST00000377185.2	+	4	403	c.321C>T	c.(319-321)acC>acT	p.T107T		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	107	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GCGAGTATACCCACAGCAGCC	0.597													40	143					0	0	0	0	T	64939779	C	T	64939779	2	4	117	1	0	0	0	0	0	0	0	1	15118	610	22	4		4	SPDYC	11	64939779	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	2390023	64939779	70066737	35	22057											
INPPL1	3636	broad.mit.edu	37	chr11	71943719	71943719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctctcgctgggcgacCggcagctcaatgcctttgac	5	9	13	14	3	2	1	1	1	1	0	3	2	2	1	2	3	3	5	2	3	1	1			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:71943719C>T	ENST00000298229.2	+	15	1966	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W	INPPL1_ENST00000541756.1_Missense_Mutation_p.R346W|INPPL1_ENST00000538751.1_Missense_Mutation_p.R346W	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	588					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCTGGGCGACCGGCAGCTCAA	0.602													11	64					0	0	0	0	T	71943719	C	T	71943719	3	4	117	1	0	0	0	0	1	0	0	0	7814	643	23	1	1820	1	INPPL1	11	71943719	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	7003940	71943719	63062797	36	22058											
PFKM	5213	broad.mit.edu	37	chr12	48526697	48526697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcaaggactttcgggaacGagaaggacgactccgagctg	11	6	15	9	4	0	1	0	0	0	1	2	7	1	4	1	3	3	2	1	3	3	1			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr12:48526697G>A	ENST00000340802.6	+	7	721	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	PFKM_ENST00000547587.1_Missense_Mutation_p.R95Q|PFKM_ENST00000551804.1_Missense_Mutation_p.R95Q|PFKM_ENST00000312352.7_Missense_Mutation_p.R95Q|PFKM_ENST00000395233.2_Missense_Mutation_p.R95Q|PFKM_ENST00000359794.5_Missense_Mutation_p.R95Q	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	95					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTTCGGGAACGAGAAGGACGA	0.572													8	33					0	0	0	0	A	48526697	G	A	48526697	3	1	117	1	0	0	0	0	1	0	0	0	11837	1058	37	1	519	1	PFKM	12	48526697	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08		48526697	85325198	37	22059											
H1FNT	341567	broad.mit.edu	37	chr12	48723402	48723402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaggccacgctcctcCgggtcagcggcagcgacgcc	7	3	14	17	5	1	0	1	0	0	0	3	1	3	0	5	4	2	2	5	4	1	0			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr12:48723402C>T	ENST00000335017.1	+	1	640	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	110					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CACGCTCCTCCGGGTCAGCGG	0.701													3	17					0	0	0	0	T	48723402	C	T	48723402	3	4	117	1	0	0	0	0	1	0	0	0	6971	643	23	1	330	1	H1FNT	12	48723402	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	196705	48723402	85128493	38	22060											
PLEKHG7	440107	broad.mit.edu	37	chr12	93162805	93162805	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacaacacgaaaacagataTcgacagtgtatagcagcatt	18	8	7	8	2	0	1	0	0	0	1	1	3	0	1	0	0	5	3	0	0	7	5			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr12:93162805T>G	ENST00000344636.3	+	11	1165	c.981T>G	c.(979-981)taT>taG	p.Y327*		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	327	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAAACAGATATCGACAGTGTA	0.313													9	17					0	0	0	0	G	93162805	T	G	93162805	4	3	117	1	0	0	0	0	0	1	0	0	12147	1442	50	5	1019	5	PLEKHG7	12	93162805	Nonsense_Mutation	SNP	T	TCGA-CN-A49C-01A-11D-A24D-08	44439403	93162805	40689090	39	22061											
GTF3A	2971	broad.mit.edu	37	chr13	28008981	28008981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgccggaaaacatttaaacGcaaagattaccttaagcaac	18	8	6	9	2	0	1	0	0	0	1	0	2	0	2	2	1	6	2	2	1	8	4			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr13:28008981G>A	ENST00000381140.4	+	7	877	c.683G>A	c.(682-684)cGc>cAc	p.R228H	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088.2	Q92664	TF3A_HUMAN	general transcription factor IIIA	228					regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		ACATTTAAACGCAAAGATTAC	0.388													3	37					0	0	0	0	A	28008981	G	A	28008981	3	1	117	1	0	0	0	0	1	0	0	0	6921	1087	38	1	709	1	GTF3A	13	28008981	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08		28008981	87160897	40	22062											
GMFB	2764	broad.mit.edu	37	chr14	54948136	54948136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaaggatatcgaggttgtCgttcaggtagttcatcttta	11	14	11	5	2	3	0	2	0	1	0	5	3	3	1	0	3	0	4	0	3	5	7			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr14:54948136C>T	ENST00000358056.3	-	4	459	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	GMFB_ENST00000554908.1_3'UTR|GMFB_ENST00000553566.1_5'UTR	NM_004124.2	NP_004115.1	P60983	GMFB_HUMAN	glia maturation factor, beta	64	ADF-H.				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						TCGAGGTTGTCGTTCAGGTAG	0.353													6	41					0	0	0	0	T	54948136	C	T	54948136	3	4	117	1	0	0	0	0	1	0	0	0	6540	884	31	1	253	1	GMFB	14	54948136	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08		54948136	52401404	41	22063											
EIF2S1	1965	broad.mit.edu	37	chr14	67831619	67831619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaacaacattgaaggcatGattcttcttagtgaattatc	14	14	6	7	0	2	3	0	3	2	0	3	3	2	3	0	1	3	1	0	1	7	6			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr14:67831619G>A	ENST00000256383.4	+	2	596	c.135G>A	c.(133-135)atG>atA	p.M45I	EIF2S1_ENST00000466499.2_Missense_Mutation_p.M45I	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	45	S1 motif.					cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		TTGAAGGCATGATTCTTCTTA	0.428													36	202					0	0	0	0	A	67831619	G	A	67831619	3	1	117	1	0	0	0	0	1	0	0	0	5045	1290	45	2	137	2	EIF2S1	14	67831619	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	12883483	67831619	39517921	42	22064											
SLC39A9	55334	broad.mit.edu	37	chr14	69925126	69925135	+	Frame_Shift_Del	DEL	TGCTTTTCTC	TGCTTTTCTC	-																															gaacgccacgggagtggccaTgcttttctctgccgggacat																										TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr14:69925126_69925135delTGCTTTTCTC	ENST00000031146.4	+	6	1220_1229	c.542_551delTGCTTTTCTC	c.(541-552)atfs	p.MLFS181fs	SLC39A9_ENST00000336643.5_Frame_Shift_Del_p.MLFS247fs|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Frame_Shift_Del_p.MLFS224fs|SLC39A9_ENST00000556605.1_Intron			Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	247					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		GGAGTGGCCATGCTTTTCTCTGCCGGGACA	0.519													62	195	---	---	---	---					-	69925135	TGCTTTTCTC	-	69925126	7	5	117	1	0	1	0	1	0	0	0	0	14713	1464	51	0	766	0	SLC39A9	14	69925126	Frame_Shift_Del	DEL	TGCTTTTCTC	TCGA-CN-A49C-01A-11D-A24D-08	2093507	69925126	37424414	43	22065											
RIN3	79890	broad.mit.edu	37	chr14	93043785	93043785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgaacgaaagctcggcCgaggtgctcgaatacaccat	11	8	10	12	4	1	1	0	1	1	0	4	4	1	1	2	2	4	2	2	2	4	1			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr14:93043785C>T	ENST00000216487.7	+	3	489	c.330C>T	c.(328-330)gcC>gcT	p.A110A	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	110	SH2.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AAAGCTCGGCCGAGGTGCTCG	0.527													26	217					0	0	0	0	T	93043785	C	T	93043785	2	4	117	1	0	0	0	0	0	0	0	1	13458	639	23	1		1	RIN3	14	93043785	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	23118659	93043785	14305755	44	22066											
BRF1	2972	broad.mit.edu	37	chr14	105707730	105707730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attccagcaggtgcgcaaagCgtggaatatacaggcacggg	12	6	14	9	3	0	0	0	0	0	0	1	1	1	1	1	4	4	3	1	4	4	3			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr14:105707730C>T	ENST00000546474.1	-	6	15525	c.566G>A	c.(565-567)cGc>cAc	p.R189H	BRF1_ENST00000446501.2_Intron|BRF1_ENST00000379932.4_5'UTR|BRF1_ENST00000379937.2_Missense_Mutation_p.R162H|BRF1_ENST00000440513.3_Missense_Mutation_p.R74H|BRF1_ENST00000392557.4_5'UTR|BRF1_ENST00000327359.3_Missense_Mutation_p.R74H|BRF1_ENST00000551787.1_5'UTR	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	189					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GTGCGCAAAGCGTGGAATATA	0.627													23	19					0	0	0	0	T	105707730	C	T	105707730	3	4	117	1	0	0	0	0	1	0	0	0	1518	768	27	1	1519	1	BRF1	14	105707730	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	12663945	105707730	1641810	45	22067											
EFTUD1	79631	broad.mit.edu	37	chr15	82443855	82443855	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgtgtacatagctgccatCaggcgctgaggtttcacttg	8	12	11	10	1	2	1	2	1	0	0	2	1	2	1	1	2	3	4	1	2	2	4			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr15:82443855C>G	ENST00000268206.7	-	18	3108	c.2940G>C	c.(2938-2940)ctG>ctC	p.L980L	EFTUD1_ENST00000359445.3_Silent_p.L929L	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	980					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TAGCTGCCATCAGGCGCTGAG	0.463													69	84					0	0	0	0	G	82443855	C	G	82443855	2	3	117	1	0	0	0	0	0	0	0	1	4996	813	29	2		2	EFTUD1	15	82443855	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08		82443855	20087537	46	22068											
PKD1	5310	broad.mit.edu	37	chr16	2154548	2154548	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgggcgtcacggtgccCgcggtggtctctgcctgcag	2	8	18	13	5	2	0	1	0	1	0	3	0	2	0	2	5	3	1	2	5	0	0			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:2154548C>T	ENST00000262304.4	-	22	8320	c.8112G>A	c.(8110-8112)gcG>gcA	p.A2704A	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.A2704A	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2704	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCACGGTGCCCGCGGTGGTCT	0.692													4	5					0	0	0	0	T	2154548	C	T	2154548	2	4	117	1	0	0	0	0	0	0	0	1	12035	639	23	1		1	PKD1	16	2154548	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08		2154548	88200205	47	22069											
NLRC3	197358	broad.mit.edu	37	chr16	3614338	3614338	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggctgggctccccgacGtgcgggaagaccgagcagat	8	4	16	13	4	0	2	0	0	0	2	1	5	1	3	4	3	2	3	4	3	1	0			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:3614338G>A	ENST00000301749.7	-	0	1005				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTCCCCGACGTGCGGGAAGA	0.647													4	23					0	0	0	0	A	3614338	G	A	3614338	1	1	117	0	1	0	0	0	0	0	0	0	10538	1136	40	1		1	NLRC3	16	3614338	RNA	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	1459790	3614338	86740415	48	22070											
PRSS8	5652	broad.mit.edu	37	chr16	31144141	31144141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagttggaggagtgcaatgtCgccctgggagccctcctgga	7	8	16	10	1	0	0	0	0	0	0	2	5	1	4	3	4	2	2	3	4	1	1			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:31144141C>T	ENST00000317508.6	-	4	663	c.400G>A	c.(400-402)Gac>Aac	p.D134N	PRSS8_ENST00000568261.1_Missense_Mutation_p.D80N	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	134	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						AGTGCAATGTCGCCCTGGGAG	0.647													85	156					0	0	0	0	T	31144141	C	T	31144141	3	4	117	1	0	0	0	0	1	0	0	0	12714	884	31	1	643	1	PRSS8	16	31144141	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	27529803	31144141	59210612	49	22071											
NKD1	85407	broad.mit.edu	37	chr16	50667411	50667411	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggacccgccatccctgcgGtgtccccctccgcccacctg	3	7	10	21	3	0	0	0	0	0	0	3	1	3	1	8	2	1	0	8	2	0	0			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:50667411G>C	ENST00000268459.3	+	10	1356	c.1132G>C	c.(1132-1134)Gtg>Ctg	p.V378L		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	378					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CATCCCTGCGGTGTCCCCCTC	0.692													4	24					0	0	0	0	C	50667411	G	C	50667411	3	2	117	1	0	0	0	0	1	0	0	0	10511	1261	44	4	1170	4	NKD1	16	50667411	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	19523270	50667411	39687342	50	22072											
CCDC113	29070	broad.mit.edu	37	chr16	58312518	58312518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaagagcatcaggatgtggGaaaggaaagtggagatagca	17	5	16	3	0	1	3	1	0	0	3	1	7	1	6	0	4	2	2	0	4	4	1			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:58312518G>A	ENST00000219299.4	+	8	1103	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	CCDC113_ENST00000443128.2_Missense_Mutation_p.E288K	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	342						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CAGGATGTGGGAAAGGAAAGT	0.527													25	31					0	0	0	0	A	58312518	G	A	58312518	3	1	117	1	0	0	0	0	1	0	0	0	2775	1175	41	2	1054	2	CCDC113	16	58312518	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	7645107	58312518	32042235	51	22073											
PLEKHG4	25894	broad.mit.edu	37	chr16	67315487	67315487	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagcagccccaggggcCgtgtaccaggtgctgctagt	8	6	15	12	1	0	0	0	0	0	0	0	1	0	1	4	4	5	4	4	4	3	2	rs145774796		TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:67315487C>T	ENST00000360461.5	+	5	3366	c.831C>T	c.(829-831)gcC>gcT	p.A277A	PLEKHG4_ENST00000427155.2_Silent_p.A277A|PLEKHG4_ENST00000450733.1_Silent_p.A196A|PLEKHG4_ENST00000379344.3_Silent_p.A277A	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	277					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CCCCAGGGGCCGTGTACCAGG	0.602													16	18					0	0	0	0	T	67315487	C	T	67315487	2	4	117	1	0	0	0	0	0	0	0	1	12143	639	23	1		1	PLEKHG4	16	67315487	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	9002969	67315487	23039266	52	22074											
STAT3	6774	broad.mit.edu	37	chr17	40486033	40486033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcttaatttgttgacGggtctgaagttgagattctg	8	17	11	5	1	3	3	0	3	3	1	3	4	3	3	0	1	0	3	0	1	2	6			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr17:40486033G>A	ENST00000264657.5	-	9	1144	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C	STAT3_ENST00000389272.3_Missense_Mutation_p.R180C|STAT3_ENST00000588969.1_Missense_Mutation_p.R278C|STAT3_ENST00000585517.1_Missense_Mutation_p.R278C|STAT3_ENST00000404395.3_Missense_Mutation_p.R278C	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	278					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ATTTGTTGACGGGTCTGAAGT	0.443									Hyperimmunoglobulin E Recurrent Infection Syndrome				28	43					0	0	0	0	A	40486033	G	A	40486033	3	1	117	1	0	0	0	0	1	0	0	0	15356	1116	39	1	1544	1	STAT3	17	40486033	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08		40486033	40709177	53	22075											
NOG	9241	broad.mit.edu	37	chr17	54671609	54671609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgctgccccagcctagggGtcaccctctacgccctggtg	5	7	12	17	2	2	0	1	0	1	0	2	0	2	0	5	3	4	1	5	3	2	2			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr17:54671609G>T	ENST00000332822.4	+	1	550	c.25G>T	c.(25-27)Gtc>Ttc	p.V9F		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	9					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					CAGCCTAGGGGTCACCCTCTA	0.761													9	14					0.000274275	0.000280439	1	0	T	54671609	G	T	54671609	3	4	117	1	0	0	0	0	1	0	0	0	10589	1261	44	4	27	4	NOG	17	54671609	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	14185576	54671609	26523601	54	22076											
EPX	8288	broad.mit.edu	37	chr17	56277000	56277000	+	Frame_Shift_Del	DEL	G	G	-																															ctgctccaatgtggacccacGggtggccaatgtcttcaccc																										TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr17:56277000delG	ENST00000225371.5	+	9	1492	c.1382delG	c.(1381-1383)cgfs	p.R461fs		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	461					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GTGGACCCACGGGTGGCCAAT	0.617													29	45	---	---	---	---					-	56277000	G	-	56277000	7	5	117	1	0	1	0	1	0	0	0	0	5238	1116	39	0	1416	0	EPX	17	56277000	Frame_Shift_Del	DEL	G	TCGA-CN-A49C-01A-11D-A24D-08	1605391	56277000	24918210	55	22077											
SDK2	54549	broad.mit.edu	37	chr17	71389822	71389822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccggtgagctgggcactgcGagacgagttgccttccacca	7	7	14	13	3	0	2	0	1	0	1	1	4	1	2	4	2	3	3	4	2	0	2	rs147343958		TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr17:71389822G>A	ENST00000392650.3	-	27	3775	c.3775C>T	c.(3775-3777)Cgc>Tgc	p.R1259C	SDK2_ENST00000388726.3_Missense_Mutation_p.R1259C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1259	Fibronectin type-III 7.				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						TGGGCACTGCGAGACGAGTTG	0.627													9	42					0	0	0	0	A	71389822	G	A	71389822	3	1	117	1	0	0	0	0	1	0	0	0	14056	1058	37	1	2819	1	SDK2	17	71389822	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	15112822	71389822	9805388	56	22078											
PTPRM	5797	broad.mit.edu	37	chr18	8379271	8379271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacatcctgcccccagaccGctgcctgcccttcctcatca	6	8	7	20	1	2	1	2	0	0	1	4	2	4	2	7	1	3	1	7	1	0	1			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr18:8379271G>A	ENST00000332175.8	+	26	4717	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H	PTPRM_ENST00000444013.1_Missense_Mutation_p.R1014H|PTPRM_ENST00000400053.4_Missense_Mutation_p.R1165H|PTPRM_ENST00000400060.4_Missense_Mutation_p.R1241H|PTPRM_ENST00000580170.1_Missense_Mutation_p.R1240H	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1227	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CCCCCAGACCGCTGCCTGCCC	0.607													17	80					0	0	0	0	A	8379271	G	A	8379271	3	1	117	1	0	0	0	0	1	0	0	0	12888	1087	38	1	3829	1	PTPRM	18	8379271	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08		8379271	69697977	57	22079											
CELF5	60680	broad.mit.edu	37	chr19	3281254	3281254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacaaggagcggacgctcCggcgcatgcagcagatggtg	9	4	17	11	5	0	1	0	0	0	1	1	4	1	4	1	5	3	4	1	5	1	0			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr19:3281254C>T	ENST00000541430.2	+	6	697	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	CELF5_ENST00000292672.2_Missense_Mutation_p.R221W	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	221					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCGGACGCTCCGGCGCATGCA	0.682													7	107					0	0	0	0	T	3281254	C	T	3281254	3	4	117	1	0	0	0	0	1	0	0	0	3248	643	23	1	683	1	CELF5	19	3281254	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08		3281254	55847729	58	22080											
ZNF792	126375	broad.mit.edu	37	chr19	35451806	35451806	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgcaaagttttccagcatCacatcgcagtacaggagtct	12	10	9	10	1	2	0	1	0	1	0	4	1	3	1	1	1	3	5	1	1	2	3			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr19:35451806C>T	ENST00000404801.1	-	2	512	c.126G>A	c.(124-126)gtG>gtA	p.V42V		NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTTCCAGCATCACATCGCAGT	0.572													30	71					0	0	0	0	T	35451806	C	T	35451806	2	4	117	1	0	0	0	0	0	0	0	1	18257	813	29	2		2	ZNF792	19	35451806	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	32170552	35451806	23677177	59	22081											
NLRP12	91662	broad.mit.edu	37	chr19	54313268	54313268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcctttcagaaaacgCgtactcggtcaacagcctgg	11	8	10	12	3	2	1	2	0	0	1	4	2	3	1	2	2	5	2	2	2	5	2			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr19:54313268C>T	ENST00000324134.6	-	3	1813	c.1645G>A	c.(1645-1647)Gcg>Acg	p.A549T	NLRP12_ENST00000391773.1_Missense_Mutation_p.A549T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A549T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A549T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A549T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A549T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A549T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A549T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	549					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCAGAAAACGCGTACTCGGTC	0.572													67	91					0	0	0	0	T	54313268	C	T	54313268	3	4	117	1	0	0	0	0	1	0	0	0	10544	768	27	1	1668	1	NLRP12	19	54313268	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	18861462	54313268	4815715	60	22082											
CACNG8	59283	broad.mit.edu	37	chr19	54483236	54483236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaacatcattctgggCgcagggatcctgttcgtggc	9	9	14	9	2	2	1	1	0	1	1	4	3	3	3	1	4	1	2	1	4	2	2			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr19:54483236C>T	ENST00000270458.2	+	3	586	c.483C>T	c.(481-483)ggC>ggT	p.G161G		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	161					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		TCATTCTGGGCGCAGGGATCC	0.657													4	20					0	0	0	0	T	54483236	C	T	54483236	2	4	117	1	0	0	0	0	0	0	0	1	2588	755	27	1		1	CACNG8	19	54483236	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	169968	54483236	4645747	61	22083											
LILRB1	10859	broad.mit.edu	37	chr19	55143426	55143426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagcccagcccagcccCgtggtgaactcaggagggaa	9	5	12	15	1	2	1	2	1	1	0	3	3	2	3	4	3	4	0	4	3	2	0			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr19:55143426C>T	ENST00000396331.1	+	6	756	c.399C>T	c.(397-399)ccC>ccT	p.P133P	LILRB1_ENST00000396315.1_Silent_p.P133P|LILRB1_ENST00000418536.2_Silent_p.P133P|LILRB1_ENST00000324602.7_Silent_p.P133P|LILRB1_ENST00000396327.3_Silent_p.P133P|LILRB1_ENST00000396317.1_Silent_p.P133P|LILRB1_ENST00000396321.2_Silent_p.P133P|LILRB1_ENST00000434867.2_Silent_p.P133P|LILRB1_ENST00000396332.4_Silent_p.P133P|LILRB1_ENST00000427581.2_Silent_p.P169P|LILRB1_ENST00000448689.1_Silent_p.P133P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	133	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGCCCAGCCCCGTGGTGAACT	0.552										HNSCC(37;0.09)			7	115					0	0	0	0	T	55143426	C	T	55143426	2	4	117	1	0	0	0	0	0	0	0	1	8844	639	23	1		1	LILRB1	19	55143426	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	660190	55143426	3985557	62	22084											
TPD52L2	7165	broad.mit.edu	37	chr20	62518930	62518930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcagcagctactccatcCgccactcaataagtatgcca	13	7	6	15	1	1	0	1	0	0	0	3	0	3	0	4	0	5	4	4	0	5	3			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr20:62518930C>T	ENST00000217121.5	+	7	589	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	TPD52L2_ENST00000346249.4_Intron|TPD52L2_ENST00000358548.4_Missense_Mutation_p.R144C|TPD52L2_ENST00000351424.4_Missense_Mutation_p.R153C|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000352482.4_Missense_Mutation_p.R164C|TPD52L2_ENST00000348257.5_Intron	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	157					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CTACTCCATCCGCCACTCAAT	0.582													16	193					0	0	0	0	T	62518930	C	T	62518930	3	4	117	1	0	0	0	0	1	0	0	0	16494	652	23	1	543	1	TPD52L2	20	62518930	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08		62518930	506590	63	22085											
ZNF280A	129025	broad.mit.edu	37	chr22	22869676	22869676	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggcttttgccatagaggtCacatgatttgcaggctgcga	9	12	12	8	1	1	2	1	1	0	1	1	3	1	2	1	3	3	3	1	3	1	4			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr22:22869676C>G	ENST00000302097.3	-	2	531	c.279G>C	c.(277-279)gtG>gtC	p.V93V		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCATAGAGGTCACATGATTTG	0.468													47	96					0	0	0	0	G	22869676	C	G	22869676	2	3	117	1	0	0	0	0	0	0	0	1	17909	813	29	2		2	ZNF280A	22	22869676	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08		22869676	28434890	64	22086											
TUBGCP6	85378	broad.mit.edu	37	chr22	50682457	50682457	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcaatcatagccgctgtaCggaacgtttctccccacatg	9	10	8	14	4	2	0	1	0	1	0	4	1	2	1	3	1	3	4	3	1	4	3			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr22:50682457C>A	ENST00000439308.2	-	1	924	c.432G>T	c.(430-432)ccG>ccT	p.P144P	TUBGCP6_ENST00000248846.5_Silent_p.P144P	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	144					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGCCGCTGTACGGAACGTTTC	0.512													13	61					4.3838e-07	4.58535e-07	1	0	A	50682457	C	A	50682457	2	1	117	1	0	0	0	0	0	0	0	1	16866	523	19	3		3	TUBGCP6	22	50682457	Silent	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	27812781	50682457	622109	65	22087											
ARMCX5	64860	broad.mit.edu	37	chrX	101858254	101858254	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggagtcatatatacatcaAgtttgtaaaggcataatctc	14	12	9	6	0	3	0	2	0	1	0	4	1	3	1	0	3	1	3	0	3	7	6	rs148467545		TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:101858254A>G	ENST00000604957.1	+	1	3807	c.1185A>G	c.(1183-1185)caA>caG	p.Q395Q	ARMCX5_ENST00000536530.1_Silent_p.Q395Q|ARMCX5_ENST00000541409.1_Silent_p.Q395Q|ARMCX5_ENST00000537008.1_Silent_p.Q395Q|ARMCX5_ENST00000246174.2_Silent_p.Q395Q|ARMCX5_ENST00000372742.1_Silent_p.Q395Q|RP4-769N13.7_ENST00000602441.1_RNA|RP4-769N13.6_ENST00000476910.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	395							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						ATATACATCAAGTTTGTAAAG	0.418													4	66					0	0	0	0	G	101858254	A	G	101858254	2	3	117	1	0	0	0	0	0	0	0	1	966	69	3	5		5	ARMCX5	23	101858254	Silent	SNP	A	TCGA-CN-A49C-01A-11D-A24D-08		101858254	53412306	66	22088											
TEX13B	56156	broad.mit.edu	37	chrX	107225292	107225292	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgcctggccattttctcGatgatgaaggccaccacgtt	7	12	11	11	2	1	2	0	2	1	0	2	3	1	2	4	2	1	1	4	2	1	3			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:107225292G>A	ENST00000302917.1	-	2	158	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	22										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCATTTTCTCGATGATGAAGG	0.562													7	55					0	0	0	0	A	107225292	G	A	107225292	2	1	117	1	0	0	0	0	0	0	0	1	15871	1048	37	1		1	TEX13B	23	107225292	Silent	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	5367038	107225292	48045268	67	22089											
RNF113A	7737	broad.mit.edu	37	chrX	119005206	119005206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatcgcgctctttctctGtgtccagctcatagacagct	6	13	9	13	2	3	1	1	0	2	1	6	1	4	1	1	0	3	4	1	0	1	2			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:119005206G>A	ENST00000371442.2	-	1	585	c.371C>T	c.(370-372)aCa>aTa	p.T124I		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	124							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CTCTTTCTCTGTGTCCAGCTC	0.552													11	316					0	0	0	0	A	119005206	G	A	119005206	3	1	117	1	0	0	0	0	1	0	0	0	13512	1377	48	4	664	4	RNF113A	23	119005206	Missense_Mutation	SNP	G	TCGA-CN-A49C-01A-11D-A24D-08	11779914	119005206	36265354	68	22090											
CT47B1	643311	broad.mit.edu	37	chrX	120009317	120009317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggactgcggccaggcctgCcgcctgctcaccctcctcct	3	7	12	19	2	1	0	1	0	0	0	3	1	3	1	7	4	3	1	7	4	0	0			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:120009317C>T	ENST00000371311.3	-	1	462	c.208G>A	c.(208-210)Gca>Aca	p.A70T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	70										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCCAGGCCTGCCGCCTGCTCA	0.726													6	33					0	0	0	0	T	120009317	C	T	120009317	3	4	117	1	0	0	0	0	1	0	0	0	4021	739	26	4	699	4	CT47B1	23	120009317	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	1004111	120009317	35261243	69	22091											
IGSF1	3547	broad.mit.edu	37	chrX	130410972	130410972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatagaaaagtcataatatCggcagctgtaattccctcca	15	10	7	9	1	1	2	1	0	0	2	4	2	3	2	2	1	1	3	2	1	6	5			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:130410972C>T	ENST00000370904.1	-	20	3432	c.2522G>A	c.(2521-2523)cGa>cAa	p.R841Q	IGSF1_ENST00000361420.3_Missense_Mutation_p.R850Q|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.R855Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.R841Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	850	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCATAATATCGGCAGCTGTA	0.557													34	204					0	0	0	0	T	130410972	C	T	130410972	3	4	117	1	0	0	0	0	1	0	0	0	7649	884	31	1	1489	1	IGSF1	23	130410972	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	10401655	130410972	24859588	70	22092											
SPRY3	10251	broad.mit.edu	37	chrX	155004050	155004050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgctggctgtgcaaccagCgctgcctttgctctgctgag	4	11	12	14	1	1	1	0	1	1	0	1	1	1	1	3	1	7	6	3	1	1	1			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:155004050C>T	ENST00000302805.2	+	2	948	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	173	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTGCAACCAGCGCTGCCTTTG	0.582													15	180					0	0	0	0	T	155004050	C	T	155004050	3	4	117	1	0	0	0	0	1	0	0	0	15197	768	27	1	519	1	SPRY3	23	155004050	Missense_Mutation	SNP	C	TCGA-CN-A49C-01A-11D-A24D-08	24593078	155004050	266510	71	22093											
PRAMEF6	440561	broad.mit.edu	37	chr1	13001279	13001279	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccttggacagtcctgcActggtgttttgttcctcttg	4	17	9	11	0	2	0	1	0	1	0	5	1	5	1	3	2	1	3	3	2	0	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:13001279A>T	ENST00000376189.1	-	3	503	c.404T>A	c.(403-405)gTg>gAg	p.V135E	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.V135E	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	135										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTCCTGCACTGGTGTTTT	0.507													45	386					0	0	0	0	T	13001279	A	T	13001279	3	4	118	1	0	0	0	0	1	0	0	0	12517	159	6	5	1034	5	PRAMEF6	1	13001279	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08		13001279	236249342	1	22094											
EPHA2	1969	broad.mit.edu	37	chr1	16458622	16458622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggccaaagtcagacacCttgcagaccaggttgctgtt	11	8	11	11	0	1	2	1	0	0	2	1	3	1	2	3	2	2	4	3	2	1	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:16458622C>A	ENST00000358432.5	-	13	2416	c.2262G>T	c.(2260-2262)aaG>aaT	p.K754N		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	754	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGTCAGACACCTTGCAGACCA	0.612													39	111					2.05212e-20	2.86053e-20	1	0	A	16458622	C	A	16458622	3	1	118	1	0	0	0	0	1	0	0	0	5205	680	24	4	688	4	EPHA2	1	16458622	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	3457343	16458622	232791999	2	22095											
ZBTB8A	653121	broad.mit.edu	37	chr1	33059310	33059310	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggactctactcctgttggcTatcagtacggtcaaggatct	8	13	10	10	1	4	0	2	0	2	0	5	2	5	2	1	4	2	3	1	4	4	4	rs148974909		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:33059310T>A	ENST00000373510.4	+	3	1007	c.778T>A	c.(778-780)Tat>Aat	p.Y260N	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.Y260N|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TCCTGTTGGCTATCAGTACGG	0.438													12	31					0	0	0	0	A	33059310	T	A	33059310	3	1	118	1	0	0	0	0	1	0	0	0	17651	1522	53	5	780	5	ZBTB8A	1	33059310	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	16600688	33059310	216191311	3	22096											
GRIK3	2899	broad.mit.edu	37	chr1	37285383	37285383	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagaagctgttaagcagAgtgaagttattttccaccac	14	10	8	9	0	0	3	0	1	0	2	1	3	1	3	3	0	3	4	3	0	5	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:37285383A>G	ENST00000373091.3	-	12	1843	c.1827T>C	c.(1825-1827)acT>acC	p.T609T	GRIK3_ENST00000373093.4_Silent_p.T609T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	609					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGTTAAGCAGAGTGAAGTTAT	0.572													3	14					0	0	0	0	G	37285383	A	G	37285383	2	3	118	1	0	0	0	0	0	0	0	1	6825	291	11	5		5	GRIK3	1	37285383	Silent	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	4226073	37285383	211965238	4	22097											
NRD1	4898	broad.mit.edu	37	chr1	52344058	52344058	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcctagacgggcaaccCggctgttctcgcccagatcc	6	7	10	18	4	1	2	0	0	1	2	4	2	3	2	5	2	1	4	5	2	2	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:52344058C>G	ENST00000354831.7	-	1	419	c.230G>C	c.(229-231)cGg>cCg	p.R77P	NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Missense_Mutation_p.R77P	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	77					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ACGGGCAACCCGGCTGTTCTC	0.602													12	38					0	0	0	0	G	52344058	C	G	52344058	3	3	118	1	0	0	0	0	1	0	0	0	10716	652	23	3	3561	3	NRD1	1	52344058	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	15058675	52344058	196906563	5	22098											
LEPR	3953	broad.mit.edu	37	chr1	66102523	66102523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccattcccagccccctGtttattcacggacatcagag	8	10	8	15	1	2	1	2	0	0	1	3	2	3	2	4	1	2	1	4	1	1	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:66102523G>T	ENST00000349533.6	+	20	3508	c.3323G>T	c.(3322-3324)tGt>tTt	p.C1108F	LEPR_ENST00000406510.3_Missense_Mutation_p.C175F	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1108					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CCAGCCCCCTGTTTATTCACG	0.413													12	33					5.50884e-06	6.16186e-06	1	0	T	66102523	G	T	66102523	3	4	118	1	0	0	0	0	1	0	0	0	8781	1377	48	4	3623	4	LEPR	1	66102523	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	13758465	66102523	183148098	6	22099											
SGIP1	84251	broad.mit.edu	37	chr1	67101628	67101628	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaacaatcaattccagcAgcccagcccacacgaaccac	16	4	5	16	1	1	1	1	1	0	0	2	2	2	1	4	0	5	1	4	0	5	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:67101628A>C	ENST00000371037.4	+	4	178	c.99_splice	c.e4-1	p.Q34_splice	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000468286.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	34					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAATTCCAGCAGCCCAGCCCA	0.383													31	84					0	0	0	0	C	67101628	A	C	67101628	5	2	118	1	0	0	0	0	0	0	1	0	14293	202	7	5	115	5	SGIP1	1	67101628	Splice_Site	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	999105	67101628	182148993	7	22100											
NEGR1	257194	broad.mit.edu	37	chr1	72748143	72748143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagccactggttcgagCaacaagcaccctgcaccaac	11	4	8	18	2	0	0	0	0	0	0	1	1	0	0	5	1	6	4	5	1	3	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:72748143C>A	ENST00000357731.4	-	1	274	c.35G>T	c.(34-36)tGc>tTc	p.C12F	NEGR1_ENST00000434200.1_Missense_Mutation_p.C10F	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	12					cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTGGTTCGAGCAACAAGCACC	0.662													14	47					2.62699e-14	3.50265e-14	1	0	A	72748143	C	A	72748143	3	1	118	1	0	0	0	0	1	0	0	0	10387	710	25	4	1057	4	NEGR1	1	72748143	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	5646515	72748143	176502478	8	22101											
LRRIQ3	127255	broad.mit.edu	37	chr1	74621485	74621485	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactggtgaattatgagcCagaattgcattaatttttga	15	14	8	4	0	0	4	0	3	0	1	0	4	0	4	1	1	3	1	1	1	6	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:74621485C>G	ENST00000354431.4	-	4	830	c.639G>C	c.(637-639)ctG>ctC	p.L213L	LRRIQ3_ENST00000370909.2_Silent_p.L105L|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Silent_p.L213L	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	213										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AATTATGAGCCAGAATTGCAT	0.244													4	34					0	0	0	0	G	74621485	C	G	74621485	2	3	118	1	0	0	0	0	0	0	0	1	9094	581	21	4		4	LRRIQ3	1	74621485	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1873342	74621485	174629136	9	22102											
CYR61	3491	broad.mit.edu	37	chr1	86048138	86048138	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctatacaaccctttacAaggccagaaatgtattgttc	13	12	5	11	0	0	1	0	0	0	1	2	1	1	1	3	1	3	2	3	1	7	7			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:86048138A>C	ENST00000451137.2	+	4	898	c.674A>C	c.(673-675)cAa>cCa	p.Q225P		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	225					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AACCCTTTACAAGGCCAGAAA	0.463											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	34					0	0	0	0	C	86048138	A	C	86048138	3	2	118	1	0	0	0	0	1	0	0	0	4231	130	5	5	688	5	CYR61	1	86048138	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	11426653	86048138	163202483	10	22103											
BRDT	676	broad.mit.edu	37	chr1	92459807	92459807	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttacaaattctgcctccCtcaggtaagaaattaacaag	14	11	5	11	0	2	1	1	0	1	1	3	1	3	1	3	1	3	1	3	1	6	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:92459807C>A	ENST00000370389.2	+	15	2988	c.2064C>A	c.(2062-2064)ccC>ccA	p.P688P	BRDT_ENST00000394530.3_Silent_p.P715P|BRDT_ENST00000402388.1_Silent_p.P761P|BRDT_ENST00000362005.3_Silent_p.P761P|BRDT_ENST00000399546.2_Silent_p.P761P	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	761					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTCTGCCTCCCTCAGGTAAGA	0.294													5	27					0.000602214	0.000644229	1	0	A	92459807	C	A	92459807	2	1	118	1	0	0	0	0	0	0	0	1	1516	668	24	4		4	BRDT	1	92459807	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	6411669	92459807	156790814	11	22104											
ABCA4	24	broad.mit.edu	37	chr1	94481338	94481338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagggcaggaaggttttctgGagaagtgtaggctttcttct	9	13	14	5	0	3	1	0	0	3	1	3	3	3	2	0	5	0	4	0	5	4	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:94481338G>C	ENST00000370225.3	-	37	5355	c.5269C>G	c.(5269-5271)Cca>Gca	p.P1757A	ABCA4_ENST00000536513.1_Missense_Mutation_p.P27A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1757					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGTTTTCTGGAGAAGTGTAG	0.527													12	15					0	0	0	0	C	94481338	G	C	94481338	3	2	118	1	0	0	0	0	1	0	0	0	34	1174	41	2	1608	2	ABCA4	1	94481338	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	2021531	94481338	154769283	12	22105											
TCHH	7062	broad.mit.edu	37	chr1	152083180	152083180	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgccgctggagctgcTcctcttcctccaggaactgc	4	9	10	18	2	1	0	0	0	1	0	5	2	5	2	5	2	4	4	5	2	1	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:152083180T>A	ENST00000368804.1	-	2	2512	c.2513A>T	c.(2512-2514)gAg>gTg	p.E838V		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	838					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAGCTGCTCCTCTTCCTC	0.677													17	33					0	0	0	0	A	152083180	T	A	152083180	3	1	118	1	0	0	0	0	1	0	0	0	15794	1551	54	5	3322	5	TCHH	1	152083180	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	57601842	152083180	97167441	13	22106											
ASH1L	55870	broad.mit.edu	37	chr1	155319221	155319221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgataagatctaggggaTcagagatcttctcataataa	14	12	10	5	0	4	3	2	1	3	2	5	5	4	4	0	3	0	0	0	3	4	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:155319221T>C	ENST00000368346.3	-	19	8105	c.7466A>G	c.(7465-7467)gAt>gGt	p.D2489G	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2484G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2489	Bromo.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATCTAGGGGATCAGAGATCTT	0.413													22	36					0	0	0	0	C	155319221	T	C	155319221	3	2	118	1	0	0	0	0	1	0	0	0	1045	1435	50	5	1483	5	ASH1L	1	155319221	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	3236041	155319221	93931400	14	22107											
YY1AP1	55249	broad.mit.edu	37	chr1	155630373	155630373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggagcaccattttgctcGgaggggcttctgaatgagtt	7	12	13	9	2	1	2	0	2	1	0	3	4	2	4	2	4	2	4	2	4	1	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:155630373G>A	ENST00000368340.5	-	10	1790	c.1682C>T	c.(1681-1683)cCg>cTg	p.P561L	YY1AP1_ENST00000355499.4_Missense_Mutation_p.P443L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P412L|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P423L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P443L|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P432L|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P443L|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P412L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P289L|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P581L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000295566.4_Missense_Mutation_p.P489L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P432L	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CATTTTGCTCGGAGGGGCTTC	0.557													31	79					0	0	0	0	A	155630373	G	A	155630373	3	1	118	1	0	0	0	0	1	0	0	0	17604	1116	39	1	928	1	YY1AP1	1	155630373	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	311152	155630373	93620248	15	22108											
FCRL2	79368	broad.mit.edu	37	chr1	157739803	157739803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctgaccccaggacctGgttttctctgaagaagcaga	10	8	10	13	0	1	4	0	2	1	2	2	5	1	5	5	2	2	2	5	2	2	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:157739803G>T	ENST00000361516.3	-	4	496	c.448C>A	c.(448-450)Cag>Aag	p.Q150K	FCRL2_ENST00000392274.3_Missense_Mutation_p.Q150K|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	150	Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCAGGACCTGGTTTTCTCTG	0.567													4	64					0.00909568	0.00948218	1	0	T	157739803	G	T	157739803	3	4	118	1	0	0	0	0	1	0	0	0	5840	1357	47	4	1114	4	FCRL2	1	157739803	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	2109430	157739803	91510818	16	22109											
OR10K2	391107	broad.mit.edu	37	chr1	158390393	158390393	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagaaatggtcttcttCtgggacagcaggtcaaccag	13	8	12	8	0	4	1	1	0	3	1	4	3	4	3	1	4	2	1	1	4	3	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:158390393C>A	ENST00000314902.2	-	1	263	c.264G>T	c.(262-264)caG>caT	p.Q88H		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q88H(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TGGTCTTCTTCTGGGACAGCA	0.478													26	127					6.36457e-07	7.41191e-07	1	0	A	158390393	C	A	158390393	3	1	118	1	0	0	0	0	1	0	0	0	10985	912	32	2	676	2	OR10K2	1	158390393	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	650590	158390393	90860228	17	22110											
OR6K2	81448	broad.mit.edu	37	chr1	158669774	158669774	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatacgtagaattacagcCacaataccatcgtaggacat	16	9	7	9	2	0	2	0	1	0	1	1	3	0	3	2	1	4	2	2	1	8	5	rs144922102		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:158669774C>A	ENST00000359610.2	-	1	712	c.669G>T	c.(667-669)gtG>gtT	p.V223V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAATTACAGCCACAATACCAT	0.463													23	56					3.10358e-05	3.42978e-05	1	0	A	158669774	C	A	158669774	2	1	118	1	0	0	0	0	0	0	0	1	11273	581	21	4		4	OR6K2	1	158669774	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	279381	158669774	90580847	18	22111											
TNR	7143	broad.mit.edu	37	chr1	175365789	175365789	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tccgtgatggtgacaccactCcaatctccaggcacccgctg	8	8	9	16	2	1	2	0	2	1	0	4	2	3	2	5	2	0	2	5	2	1	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:175365789C>G	ENST00000367674.1	-	5	1839	c.1131G>C	c.(1129-1131)tgG>tgC	p.W377C	TNR_ENST00000263525.2_Missense_Mutation_p.W377C	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	377	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGACACCACTCCAATCTCCAG	0.597													14	51					0	0	0	0	G	175365789	C	G	175365789	3	3	118	1	0	0	0	0	1	0	0	0	16432	856	30	2	3021	2	TNR	1	175365789	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	16696015	175365789	73884832	19	22112											
TNR	7143	broad.mit.edu	37	chr1	175372683	175372683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaaaccagccttcgttgCagatgcagccacaggactca	11	7	9	14	1	1	1	1	0	0	1	2	2	1	2	4	1	6	3	4	1	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:175372683C>T	ENST00000367674.1	-	4	1277	c.569G>A	c.(568-570)tGc>tAc	p.C190Y	TNR_ENST00000263525.2_Missense_Mutation_p.C190Y	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	190	Cys-rich.|EGF-like 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCCTTCGTTGCAGATGCAGCC	0.567													18	127					0	0	0	0	T	175372683	C	T	175372683	3	4	118	1	0	0	0	0	1	0	0	0	16432	710	25	4	3587	4	TNR	1	175372683	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	6894	175372683	73877938	20	22113											
CACNA1E	777	broad.mit.edu	37	chr1	181479697	181479697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcttcctgaggatgacaaGacccccatgtcccgaagact	11	8	8	14	1	1	4	0	2	1	2	3	6	3	5	4	1	0	0	4	1	2	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:181479697G>A	ENST00000526775.1	+	2	516	c.351G>A	c.(349-351)aaG>aaA	p.K117K	CACNA1E_ENST00000367570.1_Silent_p.K117K|CACNA1E_ENST00000360108.3_Silent_p.K117K|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Silent_p.K68K|CACNA1E_ENST00000367573.2_Silent_p.K117K|CACNA1E_ENST00000357570.5_Silent_p.K68K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	117					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGATGACAAGACCCCCATGT	0.522													7	35					0	0	0	0	A	181479697	G	A	181479697	2	1	118	1	0	0	0	0	0	0	0	1	2567	933	33	2		2	CACNA1E	1	181479697	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	6107014	181479697	67770924	21	22114											
ASPM	259266	broad.mit.edu	37	chr1	197111913	197111913	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcagaaagtattggaCgtctcttaggttgtttattg	9	15	12	5	1	1	1	0	0	1	1	2	2	1	2	0	3	0	4	0	3	4	7			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:197111913C>A	ENST00000367409.4	-	3	1725	c.1469G>T	c.(1468-1470)cGt>cTt	p.R490L	ASPM_ENST00000294732.7_Missense_Mutation_p.R490L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	490					mitosis	cytoplasm|nucleus	calmodulin binding	p.R490H(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGTATTGGACGTCTCTTAGG	0.338													12	75					7.03913e-09	8.52105e-09	1	0	A	197111913	C	A	197111913	3	1	118	1	0	0	0	0	1	0	0	0	1060	536	19	3	9068	3	ASPM	1	197111913	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	15632216	197111913	52138708	22	22115											
CHIT1	1118	broad.mit.edu	37	chr1	203188951	203188951	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctggcaggggtccccttCtgcagccactgttgcacagc	5	10	12	14	0	1	0	0	0	1	0	2	0	2	0	3	3	5	5	3	3	0	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:203188951C>T	ENST00000367229.1	-	8	790	c.756G>A	c.(754-756)caG>caA	p.Q252Q	CHIT1_ENST00000535569.1_Silent_p.Q243Q|CHIT1_ENST00000255427.3_Silent_p.Q233Q|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	252					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGGTCCCCTTCTGCAGCCACT	0.582											OREG0006436	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CHIT1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	4	50					0	0	0	0	T	203188951	C	T	203188951	2	4	118	1	0	0	0	0	0	0	0	1	3375	912	32	2		2	CHIT1	1	203188951	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	6077038	203188951	46061670	23	22116											
YOD1	55432	broad.mit.edu	37	chr1	207222565	207222565	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attagaggagaaaatggtcaGaggaggtgtatctggatcag	14	9	15	3	0	3	3	2	0	1	3	3	6	3	5	0	5	0	1	0	5	4	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:207222565G>A	ENST00000367084.1	-	4	919	c.715C>T	c.(715-717)Ctg>Ttg	p.L239L	YOD1_ENST00000315927.4_Silent_p.L283L|YOD1_ENST00000391927.1_Silent_p.L239L	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	283	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					AAAATGGTCAGAGGAGGTGTA	0.423													16	94					0	0	0	0	A	207222565	G	A	207222565	2	1	118	1	0	0	0	0	0	0	0	1	17584	933	33	2		2	YOD1	1	207222565	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	4033614	207222565	42028056	24	22117											
CR1L	1379	broad.mit.edu	37	chr1	207890873	207890873	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggaactccccttggagaTattccctatggaaaagaagt	14	9	9	9	0	0	2	0	0	0	2	2	5	2	4	3	3	1	0	3	3	6	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:207890873T>C	ENST00000508064.2	+	11	1539	c.1479T>C	c.(1477-1479)gaT>gaC	p.D493D		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	493	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCTTGGAGATATTCCCTATG	0.453													16	98					0	0	0	0	C	207890873	T	C	207890873	2	2	118	1	0	0	0	0	0	0	0	1	3871	1403	49	5		5	CR1L	1	207890873	Silent	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	668308	207890873	41359748	25	22118											
USH2A	7399	broad.mit.edu	37	chr1	215822045	215822045	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgcaggcctctactccaaTagagtagttagtgaaggctt	10	11	12	8	0	1	2	0	1	1	1	2	2	2	2	2	3	2	4	2	3	6	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:215822045T>C	ENST00000366943.2	-	66	14793	c.14407A>G	c.(14407-14409)Att>Gtt	p.I4803V	USH2A_ENST00000307340.3_Missense_Mutation_p.I4803V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4803	Fibronectin type-III 33.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTACTCCAATAGAGTAGTTA	0.542										HNSCC(13;0.011)			8	48					0	0	0	0	C	215822045	T	C	215822045	3	2	118	1	0	0	0	0	1	0	0	0	17132	1406	49	5	1229	5	USH2A	1	215822045	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	7931172	215822045	33428576	26	22119											
MIA3	375056	broad.mit.edu	37	chr1	222832074	222832074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcttaggaaactgagtCaagaagagtatgaacggcaa	16	10	10	5	1	2	4	1	2	1	2	2	5	2	5	0	2	2	2	0	2	8	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:222832074C>A	ENST00000344922.5	+	19	4643	c.4618C>A	c.(4618-4620)Caa>Aaa	p.Q1540K	MIA3_ENST00000344441.6_Missense_Mutation_p.Q1540K|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.Q418K	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1540					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAAACTGAGTCAAGAAGAGTA	0.408													34	185					4.0492e-12	5.24685e-12	1	0	A	222832074	C	A	222832074	3	1	118	1	0	0	0	0	1	0	0	0	9634	827	29	2	4692	2	MIA3	1	222832074	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	7010029	222832074	26418547	27	22120											
RYR2	6262	broad.mit.edu	37	chr1	237850782	237850782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaaacttggagttcttgtCaggcataggatttcactatt	10	15	9	7	0	3	0	2	0	1	0	3	2	3	2	0	3	2	3	0	3	3	7			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:237850782C>T	ENST00000366574.2	+	63	9362	c.9045C>T	c.(9043-9045)gtC>gtT	p.V3015V	RYR2_ENST00000542537.1_Silent_p.V2999V|RYR2_ENST00000360064.6_Silent_p.V3013V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3015	Calmodulin-binding (Potential).|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTTCTTGTCAGGCATAGGA	0.408													6	8					0	0	0	0	T	237850782	C	T	237850782	2	4	118	1	0	0	0	0	0	0	0	1	13854	813	29	2		2	RYR2	1	237850782	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	15018708	237850782	11399839	28	22121											
OR2M2	391194	broad.mit.edu	37	chr1	248344017	248344017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcacgacctgttcctctCacctcatggtggtgggaatg	6	13	10	12	1	3	0	3	0	1	0	5	2	4	1	3	3	0	1	3	3	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:248344017C>T	ENST00000359682.2	+	1	730	c.730C>T	c.(730-732)Cac>Tac	p.H244Y		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGTTCCTCTCACCTCATGGT	0.483													36	136					0	0	0	0	T	248344017	C	T	248344017	3	4	118	1	0	0	0	0	1	0	0	0	11081	826	29	2	732	2	OR2M2	1	248344017	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	10493235	248344017	906604	29	22122											
OR2T33	391195	broad.mit.edu	37	chr1	248436359	248436359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctcatataggtaaaaatgGcagctccataaaagagtccc	15	9	8	9	0	1	1	1	0	1	1	4	1	3	1	2	2	1	3	2	2	7	4	rs113574656	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:248436359G>T	ENST00000318021.2	-	1	779	c.758C>A	c.(757-759)gCc>gAc	p.A253D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A253V(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGTAAAAATGGCAGCTCCATA	0.498													15	64					2.35188e-11	2.99478e-11	1	0	T	248436359	G	T	248436359	3	4	118	1	0	0	0	0	1	0	0	0	11095	1203	42	4	207	4	OR2T33	1	248436359	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	92342	248436359	814262	30	22123											
NRXN1	9378	broad.mit.edu	37	chr2	50280582	50280582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacatttcccactatggCgatgttggcatcgttttcgg	6	15	9	11	3	1	0	1	0	1	0	5	1	2	0	1	3	0	3	1	3	1	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:50280582C>T	ENST00000404971.1	-	22	5414	c.4075G>A	c.(4075-4077)Gcc>Acc	p.A1359T	NRXN1_ENST00000406859.3_Missense_Mutation_p.A1289T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1311T|NRXN1_ENST00000406316.2_Missense_Mutation_p.A1289T|NRXN1_ENST00000401710.1_Missense_Mutation_p.A307T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1319T|NRXN1_ENST00000342183.5_Missense_Mutation_p.A254T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1311T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1289					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCCACTATGGCGATGTTGGCA	0.507													28	61					0	0	0	0	T	50280582	C	T	50280582	3	4	118	1	0	0	0	0	1	0	0	0	10736	768	27	1	580	1	NRXN1	2	50280582	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08		50280582	192918791	31	22124											
NRXN1	9378	broad.mit.edu	37	chr2	50723068	50723068	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtctaagttcctggctccGgcggtgatttgcgttgtgat	5	14	14	8	3	1	2	0	2	1	0	3	2	3	2	2	4	1	3	2	4	1	4	rs56402642	by1000genomes	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:50723068G>T	ENST00000404971.1	-	16	4504	c.3165C>A	c.(3163-3165)gcC>gcA	p.A1055A	NRXN1_ENST00000406859.3_Silent_p.A1015A|NRXN1_ENST00000405472.3_Silent_p.A1007A|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Silent_p.A1015A|NRXN1_ENST00000401710.1_Silent_p.A24A|NRXN1_ENST00000401669.2_Silent_p.A1015A|NRXN1_ENST00000402717.3_Silent_p.A1007A	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1015	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCCTGGCTCCGGCGGTGATTT	0.473													3	32					0.00024832	0.000267982	1	0	T	50723068	G	T	50723068	2	4	118	1	0	0	0	0	0	0	0	1	10736	1103	39	3		3	NRXN1	2	50723068	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	442486	50723068	192476305	32	22125											
ALMS1	7840	broad.mit.edu	37	chr2	73675171	73675171	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccactcctgttgattcagAcattggatctcatttatcct	9	16	5	11	0	2	2	2	1	1	1	5	3	4	3	3	1	1	1	3	1	2	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:73675171A>C	ENST00000264448.6	+	8	1625	c.1514A>C	c.(1513-1515)gAc>gCc	p.D505A	ALMS1_ENST00000409009.1_Missense_Mutation_p.D463A|ALMS1_ENST00000377715.1_Missense_Mutation_p.D505A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	505					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTTGATTCAGACATTGGATCT	0.413													25	66					0	0	0	0	C	73675171	A	C	73675171	3	2	118	1	0	0	0	0	1	0	0	0	535	275	10	5	1544	5	ALMS1	2	73675171	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	22952103	73675171	169524202	33	22126											
CTNNA2	1496	broad.mit.edu	37	chr2	80835392	80835392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcagcttaatatctgcagCaaggtgaaggcagaagtgca	14	8	11	8	0	2	2	1	1	1	1	2	2	2	2	0	2	4	5	0	2	5	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:80835392C>A	ENST00000466387.1	+	21	3103	c.2379C>A	c.(2377-2379)agC>agA	p.S793R	CTNNA2_ENST00000343114.3_Missense_Mutation_p.S472R|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S793R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S793R|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S827R|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S793R			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	793					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATATCTGCAGCAAGGTGAAGG	0.443													9	52					1.12685e-05	1.25281e-05	1	0	A	80835392	C	A	80835392	3	1	118	1	0	0	0	0	1	0	0	0	4045	709	25	4	2233	4	CTNNA2	2	80835392	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	7160221	80835392	162363981	34	22127											
VWA3B	200403	broad.mit.edu	37	chr2	98920175	98920175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attattacaggaattttgccCtcggagtgcacttattaaga	12	14	8	7	1	0	1	0	0	0	1	1	3	0	3	1	2	3	1	1	2	5	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:98920175C>A	ENST00000477737.1	+	26	3635	c.3431C>A	c.(3430-3432)cCt>cAt	p.P1144H	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1144										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAATTTTGCCCTCGGAGTGCA	0.378													3	29					0.115264	0.117174	1	0	A	98920175	C	A	98920175	3	1	118	1	0	0	0	0	1	0	0	0	17337	681	24	4	3529	4	VWA3B	2	98920175	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	18084783	98920175	144279198	35	22128											
AFF3	3899	broad.mit.edu	37	chr2	100210265	100210265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttggtgggctccggggggaCcaccacgctcgtccccagcg	4	7	15	15	4	0	0	0	0	0	0	3	1	2	1	5	5	1	2	5	5	0	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:100210265C>T	ENST00000317233.4	-	14	2093	c.1858G>A	c.(1858-1860)Gtc>Atc	p.V620I	AFF3_ENST00000356421.2_Missense_Mutation_p.V645I|AFF3_ENST00000409579.1_Missense_Mutation_p.V645I|AFF3_ENST00000409236.1_Missense_Mutation_p.V620I	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	620					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCCGGGGGGACCACCACGCTC	0.741													7	54					0	0	0	0	T	100210265	C	T	100210265	3	4	118	1	0	0	0	0	1	0	0	0	358	507	18	4	1866	4	AFF3	2	100210265	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1290090	100210265	142989108	36	22129											
CFC1	55997	broad.mit.edu	37	chr2	131356280	131356280	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctcggcgctcccagtcAcctctccgaaatgactggag	8	7	10	16	3	2	1	1	1	1	0	5	3	3	2	4	2	1	1	4	2	1	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:131356280A>C	ENST00000259216.4	-	3	444	c.182T>G	c.(181-183)gTg>gGg	p.V61G		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	61					determination of left/right symmetry|gastrulation	anchored to membrane|extracellular region|plasma membrane				endometrium(1)|lung(4)	5	Colorectal(110;0.1)					GCTCCCAGTCACCTCTCCGAA	0.617													4	72					0	0	0	0	C	131356280	A	C	131356280	3	2	118	1	0	0	0	0	1	0	0	0	3308	159	6	5	1201	5	CFC1	2	131356280	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	31146015	131356280	111843093	37	22130											
LYPD6	130574	broad.mit.edu	37	chr2	150305596	150305596	+	Missense_Mutation	SNP	C	C	A																															tggtggatttaaatgtttcaCctgtgaaaaggcagcagaca																										TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:150305596C>A	ENST00000334166.4	+	3	409	c.152C>A	c.(151-153)aCc>aAc	p.T51N	LYPD6_ENST00000409381.1_Missense_Mutation_p.T51N	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	51	UPAR/Ly6.					extracellular region				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		AAATGTTTCACCTGTGAAAAG	0.433													4	20					0.00909568	0.00948218	1	0	A	150305596	C	A	150305596	3	1	118	1	0	0	0	0	1	0	0	0	9179	507	18	4	158	4	LYPD6	2	150305596	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	18949316	150305596	92893777	38	22131	181	2									
LYPD6	130574	broad.mit.edu	37	chr2	150305597	150305597	+	Silent	SNP	C	C	G																															ggtggatttaaatgtttcacCtgtgaaaaggcagcagacaa																										TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:150305597C>G	ENST00000334166.4	+	3	410	c.153C>G	c.(151-153)acC>acG	p.T51T	LYPD6_ENST00000409381.1_Silent_p.T51T	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	51	UPAR/Ly6.					extracellular region				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		AATGTTTCACCTGTGAAAAGG	0.433													4	20					0	0	0	0	G	150305597	C	G	150305597	2	3	118	1	0	0	0	0	0	0	0	1	9179	668	24	4		4	LYPD6	2	150305597	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1	150305597	92893776	39	22132	181	2									
RIF1	55183	broad.mit.edu	37	chr2	152276866	152276866	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaacagcaagaaatagcAtctattacggagcagcttat	17	8	8	8	1	1	2	0	0	1	2	1	3	1	3	0	1	6	4	0	1	7	4	rs148830532		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:152276866A>G	ENST00000243326.4	+	6	1149	c.666A>G	c.(664-666)gcA>gcG	p.A222A	RIF1_ENST00000444746.2_Silent_p.A222A|RIF1_ENST00000428287.2_Silent_p.A222A|RIF1_ENST00000453091.2_Silent_p.A222A|RIF1_ENST00000430328.2_Silent_p.A222A|RIF1_ENST00000433166.2_Silent_p.A222A			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	222					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGAAATAGCATCTATTACGG	0.408													7	30					0	0	0	0	G	152276866	A	G	152276866	2	3	118	1	0	0	0	0	0	0	0	1	13442	204	8	5		5	RIF1	2	152276866	Silent	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	1971269	152276866	90922507	40	22133											
SCN2A	6326	broad.mit.edu	37	chr2	166229801	166229801	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgccatcaaatccctcAgaacactaagagctctgagg	12	9	9	11	0	3	3	2	1	1	2	4	3	4	3	2	2	3	1	2	2	3	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:166229801A>G	ENST00000375437.2	+	21	4206	c.3916A>G	c.(3916-3918)Aga>Gga	p.R1306G	SCN2A_ENST00000283256.6_Missense_Mutation_p.R1306G|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1306G|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1306G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1306					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CAAATCCCTCAGAACACTAAG	0.413													18	83					0	0	0	0	G	166229801	A	G	166229801	3	3	118	1	0	0	0	0	1	0	0	0	14003	180	7	5	4090	5	SCN2A	2	166229801	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	13952935	166229801	76969572	41	22134											
LRP2	4036	broad.mit.edu	37	chr2	170070338	170070338	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggtgggaaagctggtgtaCcaggatcattcgatctgttc	8	11	15	7	1	2	0	1	0	1	0	4	3	2	2	1	5	2	3	1	5	2	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:170070338C>A	ENST00000263816.3	-	36	6154	c.5869G>T	c.(5869-5871)Gta>Tta	p.V1957L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1957					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCTGGTGTACCAGGATCATT	0.383													11	43					4.68919e-08	5.56652e-08	1	0	A	170070338	C	A	170070338	3	1	118	1	0	0	0	0	1	0	0	0	9020	507	18	4	8274	4	LRP2	2	170070338	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	3840537	170070338	73129035	42	22135											
AOX1	316	broad.mit.edu	37	chr2	201460033	201460033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtatggctgtggaggaggaGgctgtggtgcttgtacagtg	7	11	19	4	0	0	0	0	0	0	0	0	3	0	3	0	6	2	5	0	6	2	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:201460033G>A	ENST00000374700.2	+	3	383	c.142G>A	c.(142-144)Ggc>Agc	p.G48S		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	48	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGGAGGAGGAGGCTGTGGTGC	0.418													3	15					0	0	0	0	A	201460033	G	A	201460033	3	1	118	1	0	0	0	0	1	0	0	0	730	1000	35	4	152	4	AOX1	2	201460033	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	31389695	201460033	41739340	43	22136											
BZW1	9689	broad.mit.edu	37	chr2	201683058	201683058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaaaccatcggagctcGtaaggagctccagaaagaac	15	5	10	11	2	1	2	1	0	0	2	4	4	2	4	2	2	5	4	2	2	4	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:201683058G>A	ENST00000409600.1	+	8	1216	c.761G>A	c.(760-762)cGt>cAt	p.R254H	BZW1_ENST00000452790.2_Missense_Mutation_p.R286H|BZW1_ENST00000409226.1_Missense_Mutation_p.R258H	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	254	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						ATCGGAGCTCGTAAGGAGCTC	0.403													13	38					0	0	0	0	A	201683058	G	A	201683058	3	1	118	1	0	0	0	0	1	0	0	0	1587	1145	40	1	787	1	BZW1	2	201683058	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	223025	201683058	41516315	44	22137											
CCDC108	255101	broad.mit.edu	37	chr2	219892334	219892334	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccactcaggctcctagcaGagaccccgcattcctccctc	8	7	7	19	1	1	1	1	0	0	1	5	2	4	1	6	1	2	3	6	1	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:219892334G>C	ENST00000409865.3	-	13	2219	c.2216C>G	c.(2215-2217)tCt>tGt	p.S739C	CCDC108_ENST00000410037.1_Missense_Mutation_p.S685C|CCDC108_ENST00000341552.5_Intron|CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000441968.1_Intron	NM_001278295.1	NP_001265224.1	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	0						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCTAGCAGAGACCCCGCA	0.602													8	123					0	0	0	0	C	219892334	G	C	219892334	3	2	118	1	0	0	0	0	1	0	0	0	2768	957	33	2		2	CCDC108	2	219892334	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	18209276	219892334	23307039	45	22138											
COL4A4	1286	broad.mit.edu	37	chr2	227942649	227942649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcagggcccctcacacctgGgtggcctggaactcctgggt	6	8	13	14	0	2	0	2	0	0	0	3	1	3	1	5	5	1	0	5	5	1	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:227942649G>T	ENST00000396625.3	-	25	2155	c.1948C>A	c.(1948-1950)Cca>Aca	p.P650T	COL4A4_ENST00000329662.7_Missense_Mutation_p.P650T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	650	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTCACACCTGGGTGGCCTGGA	0.517													5	34					0.014758	0.0151702	1	0	T	227942649	G	T	227942649	3	4	118	1	0	0	0	0	1	0	0	0	3723	1232	43	4	3220	4	COL4A4	2	227942649	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	8050315	227942649	15256724	46	22139											
COL4A4	1286	broad.mit.edu	37	chr2	227983388	227983388	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgggccaagagctccTcttcctcctggaaaccctgg	6	9	9	17	0	1	1	0	0	1	1	5	2	5	2	7	3	2	1	7	3	2	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:227983388T>C	ENST00000396625.3	-	7	669	c.462A>G	c.(460-462)agA>agG	p.R154R	COL4A4_ENST00000329662.7_Silent_p.R154R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	154	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAAGAGCTCCTCTTCCTCCTG	0.552													19	69					0	0	0	0	C	227983388	T	C	227983388	2	2	118	1	0	0	0	0	0	0	0	1	3723	1548	54	5		5	COL4A4	2	227983388	Silent	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	40739	227983388	15215985	47	22140											
COL4A3	1285	broad.mit.edu	37	chr2	228141120	228141120	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctaggggagagctcagTgtttcaacaccagttccagg	9	8	13	11	0	2	1	2	0	0	1	3	2	3	1	3	4	2	3	3	4	2	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:228141120T>G	ENST00000396578.3	+	27	2109	c.1947T>G	c.(1945-1947)agT>agG	p.S649R	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	649	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAGAGCTCAGTGTTTCAACAC	0.507													5	33					0	0	0	0	G	228141120	T	G	228141120	3	3	118	1	0	0	0	0	1	0	0	0	3721	1693	59	5	2053	5	COL4A3	2	228141120	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	157732	228141120	15058253	48	22141											
NMUR1	10316	broad.mit.edu	37	chr2	232392963	232392963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcctctcccgccgcagtcGcagcccaatgagcaggtaga	9	5	11	16	3	1	2	0	1	1	1	3	2	1	2	4	1	3	4	4	1	2	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:232392963G>C	ENST00000305141.4	-	2	902	c.769C>G	c.(769-771)Cga>Gga	p.R257G		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	257					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGCCGCAGTCGCAGCCCAATG	0.642													11	17					0	0	0	0	C	232392963	G	C	232392963	3	2	118	1	0	0	0	0	1	0	0	0	10576	1095	38	3	519	3	NMUR1	2	232392963	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	4251843	232392963	10806410	49	22142											
ALPI	248	broad.mit.edu	37	chr2	233322576	233322576	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgtgacccatctcatGggtaatgacccccttcctgc	7	11	8	15	0	2	2	1	2	2	0	4	2	3	2	4	1	1	1	4	1	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:233322576G>T	ENST00000295463.3	+	7	932	c.856_splice	c.e7+1	p.M285_splice		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	285					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCATCTCATGGGTAATGACC	0.617													50	125					9.52127e-25	1.35807e-24	1	0	T	233322576	G	T	233322576	5	4	118	1	0	0	0	0	0	0	1	0	543	1362	47	4	881	4	ALPI	2	233322576	Splice_Site	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	929613	233322576	9876797	50	22143											
SH3BP4	23677	broad.mit.edu	37	chr2	235951012	235951012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccagttcgttttgtccagGccccaggatctcaaggtctg	7	11	10	13	1	2	0	1	0	2	0	5	1	3	1	4	3	0	2	4	3	1	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:235951012G>T	ENST00000409212.1	+	4	2106	c.1599G>T	c.(1597-1599)agG>agT	p.R533S	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R533S|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R533S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	533					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTTTGTCCAGGCCCCAGGATC	0.592													30	73					1.7881e-09	2.20813e-09	1	0	T	235951012	G	T	235951012	3	4	118	1	0	0	0	0	1	0	0	0	14333	1194	42	4	1605	4	SH3BP4	2	235951012	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	2628436	235951012	7248361	51	22144											
SH3BP4	23677	broad.mit.edu	37	chr2	235951209	235951209	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgaaggacgaccaggaggCcatcctcacccagttttgtg	9	8	13	11	1	1	1	1	1	0	0	2	4	2	3	4	4	0	1	4	4	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:235951209C>A	ENST00000409212.1	+	4	2303	c.1796C>A	c.(1795-1797)gCc>gAc	p.A599D	SH3BP4_ENST00000392011.2_Missense_Mutation_p.A599D|SH3BP4_ENST00000344528.4_Missense_Mutation_p.A599D			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	599					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GACCAGGAGGCCATCCTCACC	0.582													15	65					2.23348e-06	2.55255e-06	1	0	A	235951209	C	A	235951209	3	1	118	1	0	0	0	0	1	0	0	0	14333	739	26	4	1802	4	SH3BP4	2	235951209	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	197	235951209	7248164	52	22145											
PASK	23178	broad.mit.edu	37	chr2	242072400	242072400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttccggatctcatctCggggcacaacgtggccacca	8	8	10	15	3	3	0	2	0	2	0	6	1	4	1	3	4	2	2	3	4	1	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:242072400C>A	ENST00000403638.3	-	9	1443	c.1352G>T	c.(1351-1353)cGa>cTa	p.R451L	PASK_ENST00000358649.4_Missense_Mutation_p.R451L|PASK_ENST00000544142.1_Missense_Mutation_p.R265L|PASK_ENST00000405260.1_Missense_Mutation_p.R451L|PASK_ENST00000234040.4_Missense_Mutation_p.R451L|PASK_ENST00000539818.1_Missense_Mutation_p.R235L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	451					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.R451L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GATCTCATCTCGGGGCACAAC	0.537													22	71					5.26018e-13	6.91338e-13	1	0	A	242072400	C	A	242072400	3	1	118	1	0	0	0	0	1	0	0	0	11543	884	31	3	2659	3	PASK	2	242072400	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	6121191	242072400	1126973	53	22146											
CNTN6	27255	broad.mit.edu	37	chr3	1425006	1425006	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggccccaaggggaacttctCtccagagtttttctgcttct	6	14	9	12	0	3	1	0	0	3	1	5	2	4	2	3	3	2	2	3	3	2	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:1425006C>G	ENST00000446702.2	+	19	3058	c.2431C>G	c.(2431-2433)Ctc>Gtc	p.L811V	CNTN6_ENST00000350110.2_Missense_Mutation_p.L811V|CNTN6_ENST00000539053.1_Missense_Mutation_p.L739V			Q9UQ52	CNTN6_HUMAN	contactin 6	811	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGGAACTTCTCTCCAGAGTTT	0.433													66	98					0	0	0	0	G	1425006	C	G	1425006	3	3	118	1	0	0	0	0	1	0	0	0	3675	913	32	2	2501	2	CNTN6	3	1425006	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08		1425006	196597424	54	22147											
PLCL2	23228	broad.mit.edu	37	chr3	17052278	17052278	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgggatgggccggacaaTgaacctgtaatttacacagg	12	9	13	7	1	0	1	0	1	0	0	0	3	0	3	2	4	2	2	2	4	5	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:17052278T>A	ENST00000418129.2	+	2	1527	c.1062T>A	c.(1060-1062)aaT>aaA	p.N354K	PLCL2_ENST00000396755.2_Missense_Mutation_p.N354K|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.N354K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	480					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGCCGGACAATGAACCTGTAA	0.438													16	37					0	0	0	0	A	17052278	T	A	17052278	3	1	118	1	0	0	0	0	1	0	0	0	12112	1461	51	5	1440	5	PLCL2	3	17052278	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	15627272	17052278	180970152	55	22148											
TTC21A	199223	broad.mit.edu	37	chr3	39156169	39156169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttcctgccagccctcGtcctgaagatgcagctgttc	6	10	11	14	1	0	2	0	1	0	1	4	3	2	3	4	1	5	4	4	1	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:39156169G>T	ENST00000301819.6	+	6	829	c.652G>T	c.(652-654)Gtc>Ttc	p.V218F	TTC21A_ENST00000440121.1_Missense_Mutation_p.V177F|TTC21A_ENST00000431162.2_Missense_Mutation_p.V218F	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	218							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCCAGCCCTCGTCCTGAAGAT	0.547													7	101					0.00198382	0.00210388	1	0	T	39156169	G	T	39156169	3	4	118	1	0	0	0	0	1	0	0	0	16783	1145	40	3	674	3	TTC21A	3	39156169	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	22103891	39156169	158866261	56	22149											
AMT	275	broad.mit.edu	37	chr3	49455267	49455267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaatcttggtaccctcCatgttcaggatgggactgtg	8	12	10	11	0	2	0	1	0	1	0	3	2	3	2	3	3	2	2	3	3	3	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:49455267C>G	ENST00000273588.3	-	8	1319	c.1017G>C	c.(1015-1017)atG>atC	p.M339I	AMT_ENST00000546031.1_Missense_Mutation_p.M242I|AMT_ENST00000538581.1_Missense_Mutation_p.M283I|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000395338.2_Missense_Mutation_p.M339I|AMT_ENST00000458307.2_Missense_Mutation_p.M295I	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	339					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TGGTACCCTCCATGTTCAGGA	0.622													37	84					0	0	0	0	G	49455267	C	G	49455267	3	3	118	1	0	0	0	0	1	0	0	0	589	594	21	4	230	4	AMT	3	49455267	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	10299098	49455267	148567163	57	22150											
MAGI1	9223	broad.mit.edu	37	chr3	65342361	65342361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggagccgtctctcctgcGggtgggtgaccgctctcgcc	2	8	17	14	4	2	1	0	1	2	0	5	2	3	2	4	4	2	1	4	4	0	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:65342361G>A	ENST00000402939.2	-	23	4080	c.4081C>T	c.(4081-4083)Cgc>Tgc	p.R1361C	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1390					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.R1361S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCTCTCCTGCGGGTGGGTGAC	0.697													16	39					0	0	0	0	A	65342361	G	A	65342361	3	1	118	1	0	0	0	0	1	0	0	0	9259	1116	39	1	311	1	MAGI1	3	65342361	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	15887094	65342361	132680069	58	22151											
MITF	4286	broad.mit.edu	37	chr3	69928280	69928280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgcattttggttttccCacagcagttccgccgagcat	7	14	9	11	2	0	0	0	0	0	0	2	1	2	0	3	1	3	6	3	1	1	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:69928280C>T	ENST00000394355.2	+	1	25	c.25C>T	c.(25-27)Cac>Tac	p.H9Y	MITF_ENST00000314589.5_Intron|MITF_ENST00000352241.4_Intron|MITF_ENST00000472437.1_Intron|MITF_ENST00000328528.6_Intron|MITF_ENST00000448226.2_Intron	NM_198177.2	NP_937820.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	0					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TTGGTTTTCCCACAGCAGTTC	0.488			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						18	24					0	0	0	0	T	69928280	C	T	69928280	3	4	118	1	0	0	0	0	1	0	0	0	9665	609	21	4		4	MITF	3	69928280	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	4585919	69928280	128094150	59	22152											
CNTN3	5067	broad.mit.edu	37	chr3	74420439	74420439	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgtaatttcccacatcaGacggctccaccttagatatg	11	12	7	11	1	1	2	1	0	0	2	3	2	3	2	3	1	0	2	3	1	3	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:74420439G>C	ENST00000263665.6	-	5	593	c.566C>G	c.(565-567)tCt>tGt	p.S189C		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	189	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCCCACATCAGACGGCTCCAC	0.473													4	33					0	0	0	0	C	74420439	G	C	74420439	3	2	118	1	0	0	0	0	1	0	0	0	3672	942	33	2	2592	2	CNTN3	3	74420439	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	4492159	74420439	123601991	60	22153											
ZPLD1	131368	broad.mit.edu	37	chr3	102196375	102196377	+	In_Frame_Del	DEL	TCT	TCT	-																															ctgggagttacgagcttttcTcttcttctgtgctcactggc																										TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:102196375_102196377delTCT	ENST00000306176.1	+	11	1309_1311	c.1209_1211delTCT	c.(1207-1212)tct>tc	p.SL403del	ZPLD1_ENST00000491959.1_In_Frame_Del_p.SL387del|ZPLD1_ENST00000466937.1_In_Frame_Del_p.SL387del	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	387						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CGAGCTTTTCTCTTCTTCTGTGC	0.468													27	204	---	---	---	---					-	102196377	TCT	-	102196375	7	5	118	1	0	1	0	1	0	0	0	0	18314	1538	54	0	1251	0	ZPLD1	3	102196375	In_Frame_Del	DEL	TCT	TCGA-CN-A63T-01A-11D-A28R-08	27775936	102196375	95826055	61	22154											
ATR	545	broad.mit.edu	37	chr3	142278180	142278180	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaacagattctaacaaacTtctacagctcttaagcactt	14	12	4	11	0	3	2	0	1	3	1	3	2	3	2	0	0	6	2	0	0	5	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:142278180T>A	ENST00000350721.4	-	7	1766	c.1645A>T	c.(1645-1647)Agt>Tgt	p.S549C	ATR_ENST00000383101.3_Missense_Mutation_p.S485C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	549					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.S549G(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTAACAAACTTCTACAGCTC	0.353								Other conserved DNA damage response genes					24	37					0	0	0	0	A	142278180	T	A	142278180	3	1	118	1	0	0	0	0	1	0	0	0	1208	1609	56	5	6453	5	ATR	3	142278180	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	40081805	142278180	55744250	62	22155											
ZIC1	7545	broad.mit.edu	37	chr3	147128418	147128418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgggggacatgtacccGcgaccggagcagtacggcca	8	6	14	13	5	1	0	0	0	1	0	2	3	1	2	3	4	3	3	3	4	2	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:147128418G>A	ENST00000282928.4	+	1	1248	c.519G>A	c.(517-519)ccG>ccA	p.P173P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	173					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACATGTACCCGCGACCGGAGC	0.682													6	65					0	0	0	0	A	147128418	G	A	147128418	2	1	118	1	0	0	0	0	0	0	0	1	17773	1074	38	1		1	ZIC1	3	147128418	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	4850238	147128418	50894012	63	22156											
CPA3	1359	broad.mit.edu	37	chr3	148599396	148599396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgttcaatgttgatGgatatatttggtcatggaca	9	17	10	5	0	2	1	2	1	0	0	3	3	3	3	1	3	0	2	1	3	3	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:148599396G>A	ENST00000296046.3	+	7	716	c.664G>A	c.(664-666)Gga>Aga	p.G222R	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	222					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CAATGTTGATGGATATATTTG	0.363													13	50					0	0	0	0	A	148599396	G	A	148599396	3	1	118	1	0	0	0	0	1	0	0	0	3821	1349	47	4	690	4	CPA3	3	148599396	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	1470978	148599396	49423034	64	22157											
SMC4	10051	broad.mit.edu	37	chr3	160137291	160137291	+	Frame_Shift_Del	DEL	A	A	-																															ccttgatgcaataattcaagAaaaaaaatctggcaggattc																										TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:160137291delA	ENST00000357388.3	+	12	2268	c.1817delA	c.(1816-1818)gafs	p.E606fs	SMC4_ENST00000344722.5_Frame_Shift_Del_p.E606fs|SMC4_ENST00000469762.1_Frame_Shift_Del_p.E581fs|SMC4_ENST00000462787.1_Frame_Shift_Del_p.E606fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Frame_Shift_Del_p.E606fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	606	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATAATTCAAGAAAAAAAATCT	0.338													34	109	---	---	---	---					-	160137291	A	-	160137291	7	5	118	1	0	1	0	1	0	0	0	0	14873	246	9	0	1859	0	SMC4	3	160137291	Frame_Shift_Del	DEL	A	TCGA-CN-A63T-01A-11D-A28R-08	11537895	160137291	37885139	65	22158											
DGKG	1608	broad.mit.edu	37	chr3	186024695	186024695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatgttcttacctcatGtgggtcatattgtttgaggc	8	16	11	6	0	3	1	2	1	1	0	3	2	3	2	1	3	1	2	1	3	3	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:186024695G>A	ENST00000265022.3	-	3	678	c.139C>T	c.(139-141)Cat>Tat	p.H47Y	DGKG_ENST00000382164.4_Missense_Mutation_p.H47Y|DGKG_ENST00000544847.1_Missense_Mutation_p.H47Y|DGKG_ENST00000344484.4_Missense_Mutation_p.H47Y	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	47					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTTACCTCATGTGGGTCATAT	0.398													31	35					0	0	0	0	A	186024695	G	A	186024695	3	1	118	1	0	0	0	0	1	0	0	0	4506	1377	48	4	2328	4	DGKG	3	186024695	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	25887404	186024695	11997735	66	22159											
RPL39L	116832	broad.mit.edu	37	chr3	186839064	186839064	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggccaggaatcgcttaaTggtgaaagtcttgtgagaag	11	11	13	6	1	1	2	0	2	1	1	2	4	1	3	1	3	0	1	1	3	4	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:186839064T>A	ENST00000296277.4	-	3	427	c.25A>T	c.(25-27)Att>Ttt	p.I9F	RPL39L_ENST00000433055.1_Missense_Mutation_p.I9F|RPL39L_ENST00000455270.1_Missense_Mutation_p.I9F	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	9					spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		AATCGCTTAATGGTGAAAGTC	0.453													31	146					0	0	0	0	A	186839064	T	A	186839064	3	1	118	1	0	0	0	0	1	0	0	0	13678	1464	51	5	134	5	RPL39L	3	186839064	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	814369	186839064	11183366	67	22160											
ATP13A5	344905	broad.mit.edu	37	chr3	193007777	193007777	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcaaaaatattgaaagcaGtaaagggggagaaaggagct	19	7	12	3	0	1	2	1	1	0	1	1	4	1	3	0	3	2	3	0	3	7	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:193007777G>A	ENST00000342358.4	-	26	3037	c.2920C>T	c.(2920-2922)Ctg>Ttg	p.L974L	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	974					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)		ATTGAAAGCAGTAAAGGGGGA	0.418													38	36					0	0	0	0	A	193007777	G	A	193007777	2	1	118	1	0	0	0	0	0	0	0	1	1131	1020	36	4		4	ATP13A5	3	193007777	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	6168713	193007777	5014653	68	22161											
ATP13A4	84239	broad.mit.edu	37	chr3	193188666	193188666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acctgtcagcatgccttcatCcaccacacagctgccttcaa	10	9	5	17	0	3	0	3	0	0	0	4	0	4	0	5	0	4	2	5	0	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:193188666C>T	ENST00000342695.4	-	9	1247	c.925G>A	c.(925-927)Gat>Aat	p.D309N	ATP13A4_ENST00000392443.3_Missense_Mutation_p.D309N|ATP13A4_ENST00000295548.3_Missense_Mutation_p.D309N	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	309					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGCCTTCATCCACCACACAG	0.532													6	165					0	0	0	0	T	193188666	C	T	193188666	3	4	118	1	0	0	0	0	1	0	0	0	1130	855	30	2	2753	2	ATP13A4	3	193188666	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	180889	193188666	4833764	69	22162											
MUC4	4585	broad.mit.edu	37	chr3	195505842	195505842	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggggtggcgtgaccTgtggatgctgaggaagtgtc	8	8	20	5	1	0	3	0	2	0	1	1	6	0	6	1	6	1	1	1	6	2	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:195505842T>G	ENST00000463781.3	-	2	13068	c.12609A>C	c.(12607-12609)acA>acC	p.T4203T	MUC4_ENST00000475231.1_Silent_p.T4203T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	966					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCGTGACCTGTGGATGCTG	0.597													3	10					0	0	0	0	G	195505842	T	G	195505842	2	3	118	1	0	0	0	0	0	0	0	1	10048	1567	55	5		5	MUC4	3	195505842	Silent	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	2317176	195505842	2516588	70	22163											
GAK	2580	broad.mit.edu	37	chr4	887730	887730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacttcccattgactattCgaagtttcgctccatcctca	9	14	5	13	2	1	1	1	1	0	0	6	2	4	1	3	0	1	3	3	0	3	6	rs144664799		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:887730C>A	ENST00000314167.4	-	8	919	c.809G>T	c.(808-810)cGa>cTa	p.R270L	GAK_ENST00000511163.1_Missense_Mutation_p.R191L	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	270	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ATTGACTATTCGAAGTTTCGC	0.607													11	32					6.40141e-05	6.94902e-05	1	0	A	887730	C	A	887730	3	1	118	1	0	0	0	0	1	0	0	0	6244	884	31	3	3210	3	GAK	4	887730	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08		887730	190266546	71	22164											
SLC34A2	10568	broad.mit.edu	37	chr4	25677927	25677927	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcctgatcccgctgacGgtgtttggcctctcgctggc	2	14	11	14	3	2	2	0	2	2	0	5	2	4	2	3	3	0	3	3	3	0	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:25677927G>T	ENST00000382051.3	+	13	1679	c.1629G>T	c.(1627-1629)acG>acT	p.T543T	SLC34A2_ENST00000504570.1_Silent_p.T542T|SLC34A2_ENST00000503434.1_Silent_p.T542T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	543					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.T543T(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCCCGCTGACGGTGTTTGGCC	0.602			T	ROS1	NSCLC								30	106					6.29468e-14	8.33253e-14	1	0	T	25677927	G	T	25677927	2	4	118	1	0	0	0	0	0	0	0	1	14656	1103	39	3		3	SLC34A2	4	25677927	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	24790197	25677927	165476349	72	22165											
PCDH7	5099	broad.mit.edu	37	chr4	30723480	30723480	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acacgcccaccttcccgtcgCccgtgctcacgctcacggtg	5	7	9	20	6	2	0	2	0	0	0	4	0	3	0	4	1	1	2	4	1	0	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:30723480C>A	ENST00000361762.2	+	1	1444	c.436C>A	c.(436-438)Ccc>Acc	p.P146T	PCDH7_ENST00000543491.1_Missense_Mutation_p.P146T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	146	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTTCCCGTCGCCCGTGCTCAC	0.652													3	9					1	1	1	0	A	30723480	C	A	30723480	3	1	118	1	0	0	0	0	1	0	0	0	11587	739	26	4	438	4	PCDH7	4	30723480	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	5045553	30723480	160430796	73	22166											
GABRA2	2555	broad.mit.edu	37	chr4	46312206	46312206	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagctgccaaatttcagAggacatgaatgagcatccat	14	10	8	9	0	1	3	1	2	0	1	2	4	2	4	2	1	4	2	2	1	3	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:46312206A>T	ENST00000510861.1	-	6	716	c.543T>A	c.(541-543)ccT>ccA	p.P181P	GABRA2_ENST00000356504.1_Silent_p.P181P|GABRA2_ENST00000515082.1_Silent_p.P181P|GABRA2_ENST00000540012.1_Silent_p.P126P|GABRA2_ENST00000381620.4_Silent_p.P181P|GABRA2_ENST00000514090.1_Silent_p.P181P|GABRA2_ENST00000507069.1_Silent_p.P181P			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	181					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAAATTTCAGAGGACATGAAT	0.383													5	51					0	0	0	0	T	46312206	A	T	46312206	2	4	118	1	0	0	0	0	0	0	0	1	6209	291	11	5		5	GABRA2	4	46312206	Silent	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	15588726	46312206	144842070	74	22167											
CORIN	10699	broad.mit.edu	37	chr4	47605460	47605460	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatatagcagtacgtgtcAggctctagccactgctccgg	8	10	12	11	2	2	1	1	1	1	0	3	1	3	1	2	2	4	4	2	2	4	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:47605460A>G	ENST00000273857.4	-	20	2765	c.2766T>C	c.(2764-2766)ccT>ccC	p.P922P	CORIN_ENST00000505909.1_Silent_p.P885P|CORIN_ENST00000508498.1_Silent_p.P783P|CORIN_ENST00000502252.1_Silent_p.P855P	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	922	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGTACGTGTCAGGCTCTAGCC	0.512													22	40					0	0	0	0	G	47605460	A	G	47605460	2	3	118	1	0	0	0	0	0	0	0	1	3782	175	7	5		5	CORIN	4	47605460	Silent	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	1293254	47605460	143548816	75	22168											
LPHN3	23284	broad.mit.edu	37	chr4	62935916	62935916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagttacagcattgccagcGgcgaatacctgagcaactgt	12	9	10	10	2	0	1	0	1	0	0	0	2	0	1	2	1	7	3	2	1	5	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:62935916G>T	ENST00000514591.1	+	25	4029	c.3700G>T	c.(3700-3702)Ggc>Tgc	p.G1234C	LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000512091.1_3'UTR|LPHN3_ENST00000508946.1_Missense_Mutation_p.G1277C|LPHN3_ENST00000545650.1_Missense_Mutation_p.G1234C|LPHN3_ENST00000514996.1_Missense_Mutation_p.G1268C|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000506746.1_Missense_Mutation_p.G1336C|LPHN3_ENST00000507625.1_Missense_Mutation_p.G1293C|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000506720.1_Missense_Mutation_p.G1345C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1212					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CATTGCCAGCGGCGAATACCT	0.453													13	27					9.05144e-12	1.16466e-11	1	0	T	62935916	G	T	62935916	3	4	118	1	0	0	0	0	1	0	0	0	8981	1116	39	3	3790	3	LPHN3	4	62935916	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	15330456	62935916	128218360	76	22169											
UGT2A3	79799	broad.mit.edu	37	chr4	69795751	69795751	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagaagactgctcgatctAggggctttacaggttgatca	10	11	11	9	1	2	3	1	1	1	2	4	4	3	3	1	3	2	3	1	3	3	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:69795751A>C	ENST00000251566.4	-	6	1394	c.1364T>G	c.(1363-1365)cTa>cGa	p.L455R	UGT2A3_ENST00000420231.2_Missense_Mutation_p.L166R	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	455						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCTCGATCTAGGGGCTTTAC	0.453													18	89					0	0	0	0	C	69795751	A	C	69795751	3	2	118	1	0	0	0	0	1	0	0	0	17051	420	15	5	223	5	UGT2A3	4	69795751	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	6859835	69795751	121358525	77	22170											
C4orf40	401137	broad.mit.edu	37	chr4	71024146	71024146	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatcgcccagtgaatacagtCcccagttaccctgggaatac	11	9	8	13	1	0	1	0	1	0	0	2	2	1	2	4	1	3	1	4	1	6	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:71024146C>A	ENST00000344526.5	+	3	366	c.177C>A	c.(175-177)gtC>gtA	p.V59V	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Silent_p.V59V	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	59						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						TGAATACAGTCCCCAGTTACC	0.453													44	90					2.47872e-24	3.52189e-24	1	0	A	71024146	C	A	71024146	2	1	118	1	0	0	0	0	0	0	0	1	2290	842	30	2		2	C4orf40	4	71024146	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1228395	71024146	120130130	78	22171											
ADAMTS3	9508	broad.mit.edu	37	chr4	73181646	73181646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaaaagtagggattatcagGatggctacaccacagctgtt	14	9	10	8	0	1	0	1	0	0	0	1	2	1	2	1	3	2	4	1	3	5	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:73181646G>T	ENST00000286657.4	-	11	1564	c.1528C>A	c.(1528-1530)Cct>Act	p.P510T		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	510	Disintegrin.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGATTATCAGGATGGCTACAC	0.398													12	35					7.03913e-09	8.52105e-09	1	0	T	73181646	G	T	73181646	3	4	118	1	0	0	0	0	1	0	0	0	267	1174	41	2	2137	2	ADAMTS3	4	73181646	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	2157500	73181646	117972630	79	22172											
PTPN13	5783	broad.mit.edu	37	chr4	87655581	87655581	+	Frame_Shift_Del	DEL	T	T	-																															ctttgtttttcagaattaaaTtttttatggatgatgttagt																										TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:87655581delT	ENST00000436978.1	+	13	2464	c.1984delT	c.(1984-1986)ttfs	p.F663fs	PTPN13_ENST00000511467.1_Frame_Shift_Del_p.F663fs|PTPN13_ENST00000316707.6_Frame_Shift_Del_p.F663fs|PTPN13_ENST00000427191.2_Frame_Shift_Del_p.F663fs|PTPN13_ENST00000411767.2_Frame_Shift_Del_p.F663fs	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	663	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAGAATTAAATTTTTTATGGA	0.348													2	4	---	---	---	---					-	87655581	T	-	87655581	7	5	118	1	0	1	0	1	0	0	0	0	12862	1493	52	0	2030	0	PTPN13	4	87655581	Frame_Shift_Del	DEL	T	TCGA-CN-A63T-01A-11D-A28R-08	14473935	87655581	103498695	80	22173											
BMPR1B	658	broad.mit.edu	37	chr4	96036835	96036835	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttgggttcgattataGgacactcccattcctcatca	8	14	8	11	1	2	0	2	0	0	0	5	2	4	1	2	2	0	3	2	2	2	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:96036835G>T	ENST00000515059.1	+	6	529		c.e6-1		BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000502683.1_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site|BMPR1B_ENST00000440890.2_Splice_Site	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB						BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TTCGATTATAGGACACTCCCA	0.338													15	42					1.15088e-07	1.35745e-07	1	0	T	96036835	G	T	96036835	5	4	118	1	0	0	0	0	0	0	1	0	1475	1014	35	4	256	4	BMPR1B	4	96036835	Splice_Site	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	8381254	96036835	95117441	81	22174											
ANK2	287	broad.mit.edu	37	chr4	114254292	114254292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctgcgcagtgagaatgggGacagctggaaagagcatttc	11	8	14	8	1	0	2	0	1	0	2	2	5	1	4	1	3	3	3	1	3	2	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:114254292G>T	ENST00000357077.4	+	29	3360	c.3307G>T	c.(3307-3309)Gac>Tac	p.D1103Y	ANK2_ENST00000506722.1_Missense_Mutation_p.D1094Y|ANK2_ENST00000509550.1_Missense_Mutation_p.D279Y|ANK2_ENST00000264366.6_Missense_Mutation_p.D1070Y|ANK2_ENST00000394537.3_Missense_Mutation_p.D1103Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1070	Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAGAATGGGGACAGCTGGAA	0.468													27	64					4.59853e-10	5.71709e-10	1	0	T	114254292	G	T	114254292	3	4	118	1	0	0	0	0	1	0	0	0	621	1174	41	2	3486	2	ANK2	4	114254292	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	18217457	114254292	76899984	82	22175											
SYNPO2	171024	broad.mit.edu	37	chr4	119951432	119951432	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttgccaagaggagggagaGaatggatcagatcacagccc	13	6	14	8	0	2	3	2	0	0	3	2	7	2	6	2	3	2	1	2	3	2	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:119951432G>C	ENST00000307142.4	+	4	1698	c.1502G>C	c.(1501-1503)aGa>aCa	p.R501T	SYNPO2_ENST00000429713.2_Missense_Mutation_p.R501T|SYNPO2_ENST00000434046.2_Missense_Mutation_p.R501T|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	501						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGAGGGAGAGAATGGATCAG	0.517													14	35					0	0	0	0	C	119951432	G	C	119951432	3	2	118	1	0	0	0	0	1	0	0	0	15548	942	33	2	1516	2	SYNPO2	4	119951432	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	5697140	119951432	71202844	83	22176											
C4orf29	80167	broad.mit.edu	37	chr4	128938657	128938657	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatatccatgggaggacacGtaagcctttttatttctgct	10	14	9	8	1	1	0	0	0	1	0	2	3	2	2	2	2	2	2	2	2	4	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:128938657G>A	ENST00000388795.5	+	8	766		c.e8+1		C4orf29_ENST00000444616.1_Splice_Site|C4orf29_ENST00000398965.1_Splice_Site			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29							extracellular region				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GGGAGGACACGTAAGCCTTTT	0.378													4	11					0	0	0	0	A	128938657	G	A	128938657	5	1	118	1	0	0	0	0	0	0	1	0	2280	1159	40	1	636	1	C4orf29	4	128938657	Splice_Site	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	8987225	128938657	62215619	84	22177											
PLRG1	5356	broad.mit.edu	37	chr4	155461982	155461982	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacttgtttgtcttctccAcaagagaacagatatgggct	10	14	8	9	0	3	2	1	0	2	2	4	3	3	2	1	1	1	2	1	1	3	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:155461982A>C	ENST00000499023.2	-	9	918	c.792T>G	c.(790-792)tgT>tgG	p.C264W	PLRG1_ENST00000302078.5_Missense_Mutation_p.C255W|PLRG1_ENST00000393905.2_Missense_Mutation_p.C264W	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	264						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TGTCTTCTCCACAAGAGAACA	0.393													11	64					0	0	0	0	C	155461982	A	C	155461982	3	2	118	1	0	0	0	0	1	0	0	0	12178	157	6	5	780	5	PLRG1	4	155461982	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	26523325	155461982	35692294	85	22178											
GUCY1A3	2982	broad.mit.edu	37	chr4	156643193	156643193	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttattttttgctttcagatgCgaattggactgcactctgga	8	17	9	7	1	2	1	1	0	1	1	2	4	2	3	0	2	3	2	0	2	2	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:156643193C>T	ENST00000296518.7	+	9	1929	c.1720C>T	c.(1720-1722)Cga>Tga	p.R574*	GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.R316*|GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.R574*			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	574	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTTTCAGATGCGAATTGGACT	0.398													15	149					0	0	0	0	T	156643193	C	T	156643193	4	4	118	1	0	0	0	0	0	1	0	0	6944	760	27	1	1761	1	GUCY1A3	4	156643193	Nonsense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1181211	156643193	34511083	86	22179											
DDX60	55601	broad.mit.edu	37	chr4	169157461	169157461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggtggaaaatatcttcttCcaaagagatgtgccaatact	13	13	8	7	0	2	1	0	0	2	1	3	3	3	2	2	2	2	0	2	2	6	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:169157461C>A	ENST00000393743.3	-	33	4766	c.4475G>T	c.(4474-4476)gGa>gTa	p.G1492V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1492							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATATCTTCTTCCAAAGAGATG	0.313													6	22					0.00198382	0.00210388	1	0	A	169157461	C	A	169157461	3	1	118	1	0	0	0	0	1	0	0	0	4410	855	30	2	687	2	DDX60	4	169157461	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	12514268	169157461	21996815	87	22180											
VEGFC	7424	broad.mit.edu	37	chr4	177632758	177632758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgattggcaaaactgattGttactggtttggggccttga	8	15	13	5	0	0	3	0	3	0	0	0	3	0	3	1	4	2	3	1	4	3	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:177632758G>T	ENST00000280193.2	-	4	1014	c.599C>A	c.(598-600)aCa>aAa	p.T200K	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	200					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AAAACTGATTGTTACTGGTTT	0.388													26	83					1.17739e-12	1.54192e-12	1	0	T	177632758	G	T	177632758	3	4	118	1	0	0	0	0	1	0	0	0	17248	1377	48	4	679	4	VEGFC	4	177632758	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	8475297	177632758	13521518	88	22181											
SEMA5A	9037	broad.mit.edu	37	chr5	9122825	9122825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgccagccaccacactgcGgggccgggctgtcgcaggag	7	4	15	15	3	0	0	0	0	0	0	1	1	0	1	4	4	3	2	4	4	0	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:9122825G>A	ENST00000382496.5	-	14	2389	c.1724C>T	c.(1723-1725)cCg>cTg	p.P575L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	575	TSP type-1 1.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACCACACTGCGGGGCCGGGCT	0.632													6	98					0	0	0	0	A	9122825	G	A	9122825	3	1	118	1	0	0	0	0	1	0	0	0	14124	1116	39	1	1540	1	SEMA5A	5	9122825	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08		9122825	171792435	89	22182											
CTNND2	1501	broad.mit.edu	37	chr5	11346484	11346485	+	Splice_Site	INS	-	-	T																															gaaaaaggtttttacccaccINStgggatctttctgaatgcta																										TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:11346484_11346485insT	ENST00000304623.8	-	9	1816_1817	c.1628_splice	c.e9+1	p.R543_splice	CTNND2_ENST00000458100.2_Splice_Site_p.R110_splice|CTNND2_ENST00000511377.1_Splice_Site_p.R452_splice|CTNND2_ENST00000359640.2_Splice_Site_p.R543_splice|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Splice_Site_p.R206_splice	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	543					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTTTACCCACCTGGGATCTTTC	0.46													22	102	---	---	---	---					T	11346485	-	T	11346484	8	5	118	1	0	1	1	0	0	0	1	0	4052	695	24	0	2105	0	CTNND2	5	11346484	Splice_Site	INS	-	TCGA-CN-A63T-01A-11D-A28R-08	2223659	11346484	169568776	90	22183											
ANKH	56172	broad.mit.edu	37	chr5	14716842	14716842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagaaggagaagatccGcaaaggaacaacacagagtt	18	4	13	6	1	0	4	0	0	0	4	1	7	1	6	1	3	2	2	1	3	6	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:14716842G>A	ENST00000284268.6	-	9	1444	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	ANKH_ENST00000535119.1_Missense_Mutation_p.R174W	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	372					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GAGAAGATCCGCAAAGGAACA	0.408													17	41					0	0	0	0	A	14716842	G	A	14716842	3	1	118	1	0	0	0	0	1	0	0	0	627	1086	38	1	380	1	ANKH	5	14716842	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	3370358	14716842	166198418	91	22184											
MYO10	4651	broad.mit.edu	37	chr5	16682009	16682009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaattcctggccctccactCtggtgtcccctttggacctc	4	13	8	16	0	1	1	0	1	1	0	5	2	4	2	6	3	0	0	6	3	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:16682009C>T	ENST00000513610.1	-	31	4614	c.4160G>A	c.(4159-4161)aGa>aAa	p.R1387K	MYO10_ENST00000427430.2_Missense_Mutation_p.R744K|MYO10_ENST00000505695.1_Missense_Mutation_p.R726K|MYO10_ENST00000515803.1_Missense_Mutation_p.R726K|MYO10_ENST00000274203.9_Missense_Mutation_p.R744K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1387					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCCCTCCACTCTGGTGTCCCC	0.577													16	82					0	0	0	0	T	16682009	C	T	16682009	3	4	118	1	0	0	0	0	1	0	0	0	10132	913	32	2	2060	2	MYO10	5	16682009	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1965167	16682009	164233251	92	22185											
PRDM9	56979	broad.mit.edu	37	chr5	23526527	23526527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggagcagcaatatccagatCcacacagccgtaatgacaaa	17	5	8	11	1	0	2	0	1	0	1	2	3	2	3	3	1	3	3	3	1	4	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:23526527C>A	ENST00000296682.3	+	11	1512	c.1330C>A	c.(1330-1332)Cca>Aca	p.P444T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	444					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATATCCAGATCCACACAGCCG	0.473										HNSCC(3;0.000094)			14	53					0.00244969	0.00259048	1	0	A	23526527	C	A	23526527	3	1	118	1	0	0	0	0	1	0	0	0	12543	855	30	2	1368	2	PRDM9	5	23526527	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	6844518	23526527	157388733	93	22186											
IL31RA	133396	broad.mit.edu	37	chr5	55212545	55212545	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttaaaaccatgttccacccCcagtgacaagttggtgattg	11	11	8	11	0	0	2	0	2	0	0	1	2	1	2	4	1	1	2	4	1	3	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:55212545C>A	ENST00000396834.1	+	17	2331	c.1835C>A	c.(1834-1836)cCc>cAc	p.P612H	IL31RA_ENST00000490985.1_Missense_Mutation_p.P489H|IL31RA_ENST00000359040.5_Missense_Mutation_p.P631H|IL31RA_ENST00000447346.2_Missense_Mutation_p.P631H|IL31RA_ENST00000354961.4_Missense_Mutation_p.P612H	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	599					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTTCCACCCCCAGTGACAAG	0.428													10	34					1.76689e-08	2.11797e-08	1	0	A	55212545	C	A	55212545	3	1	118	1	0	0	0	0	1	0	0	0	7744	623	22	4	1950	4	IL31RA	5	55212545	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	31686018	55212545	125702715	94	22187											
GPR98	84059	broad.mit.edu	37	chr5	90368415	90368415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagaggaaggacaaatGctgcaggtttgaaaggaact	14	9	12	6	0	2	2	1	1	1	1	2	5	2	5	0	4	3	3	0	4	4	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:90368415G>A	ENST00000405460.2	+	86	18400	c.18304G>A	c.(18304-18306)Gct>Act	p.A6102T	GPR98_ENST00000425867.2_Missense_Mutation_p.A1763T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6102					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGGACAAATGCTGCAGGTTT	0.423													30	97					0	0	0	0	A	90368415	G	A	90368415	3	1	118	1	0	0	0	0	1	0	0	0	6771	1319	46	4	18646	4	GPR98	5	90368415	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	35155870	90368415	90546845	95	22188											
FER	2241	broad.mit.edu	37	chr5	108436099	108436099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctatcaattcctctaggaGgtgatttcctcacctttctg	8	16	6	11	0	5	1	2	1	3	0	7	2	7	2	3	2	0	0	3	2	3	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:108436099G>T	ENST00000281092.4	+	17	2311	c.1927G>T	c.(1927-1929)Ggt>Tgt	p.G643C	FER_ENST00000438717.2_Missense_Mutation_p.G468C	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	643	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TCCTCTAGGAGGTGATTTCCT	0.353													3	13					1	1	1	0	T	108436099	G	T	108436099	3	4	118	1	0	0	0	0	1	0	0	0	5858	1000	35	4	1985	4	FER	5	108436099	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	18067684	108436099	72479161	96	22189											
MCC	4163	broad.mit.edu	37	chr5	112676270	112676270	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgccaatgtgcggggaCtgtgtgagcagtttgtggag	7	11	18	5	1	0	1	0	1	0	0	0	4	0	3	1	3	3	3	1	3	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:112676270C>T	ENST00000408903.3	-	3	988	c.573G>A	c.(571-573)caG>caA	p.Q191Q	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGTGCGGGGACTGTGTGAGCA	0.527													12	33					0	0	0	0	T	112676270	C	T	112676270	2	4	118	1	0	0	0	0	0	0	0	1	9442	564	20	4		4	MCC	5	112676270	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	4240171	112676270	68238990	97	22190											
RAPGEF6	51735	broad.mit.edu	37	chr5	130841136	130841136	+	Frame_Shift_Del	DEL	C	C	-																															gagtaattccaaaactatttCccataaacaaattttcaact																										TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:130841136delC	ENST00000509018.1	-	10	1227	c.1022delG	c.(1021-1023)gafs	p.G341fs	RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.G341fs|FNIP1_ENST00000514667.1_Frame_Shift_Del_p.G391fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.G56fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	341					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAACTATTTCCCATAAACAA	0.358													10	52	---	---	---	---					-	130841136	C	-	130841136	7	5	118	1	0	1	0	1	0	0	0	0	13130	855	30	0	4345	0	RAPGEF6	5	130841136	Frame_Shift_Del	DEL	C	TCGA-CN-A63T-01A-11D-A28R-08	18164866	130841136	50074124	98	22191											
PCDHA13	56136	broad.mit.edu	37	chr5	140263782	140263782	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggacgaggtggacgcgccGcaccaccgccttctggtgct	5	7	14	15	5	1	0	0	0	1	0	1	3	1	2	4	4	1	2	4	4	0	1	rs146010500		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:140263782G>C	ENST00000289272.2	+	1	1929	c.1929G>C	c.(1927-1929)ccG>ccC	p.P643P	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.P643P|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGCGCCGCACCACCGCC	0.701													32	86					0	0	0	0	C	140263782	G	C	140263782	2	2	118	1	0	0	0	0	0	0	0	1	11594	1074	38	3		3	PCDHA13	5	140263782	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	9422646	140263782	40651478	99	22192											
FAT2	2196	broad.mit.edu	37	chr5	150946859	150946860	+	Frame_Shift_Ins	INS	-	-	C																															aaaaatggacacttccttctINScccggcgaaaaggggatccc																										TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:150946859_150946860insC	ENST00000261800.5	-	1	1645_1646	c.1633_1634insG	c.(1633-1635)gaafs	p.E545fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	545	Cadherin 4.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTTCCTTCTCCCGGCGAAAA	0.48													23	61	---	---	---	---					C	150946860	-	C	150946859	7	5	118	1	0	1	1	0	0	0	0	0	5735	1551	54	0	11507	0	FAT2	5	150946859	Frame_Shift_Ins	INS	-	TCGA-CN-A63T-01A-11D-A28R-08	10683077	150946859	29968401	100	22193											
GRIA1	2890	broad.mit.edu	37	chr5	153149891	153149891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgagtacattgagcagcGgaaaccctgtgacaccatga	14	7	11	9	1	0	4	0	4	0	0	0	6	0	5	2	1	4	2	2	1	3	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:153149891G>A	ENST00000285900.5	+	13	2529	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	GRIA1_ENST00000518142.1_Missense_Mutation_p.R649Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.R739Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.R729Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.R739Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.R660Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	729					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTGAGCAGCGGAAACCCTGT	0.507													19	48					0	0	0	0	A	153149891	G	A	153149891	3	1	118	1	0	0	0	0	1	0	0	0	6817	1116	39	1	2236	1	GRIA1	5	153149891	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	2203032	153149891	27765369	101	22194											
EBF1	1879	broad.mit.edu	37	chr5	158139994	158139994	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccctgattggtggcttgTgatgcctcggagacattcac	7	12	12	10	1	1	4	1	3	0	1	2	5	1	4	2	3	1	1	2	3	0	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:158139994T>C	ENST00000313708.6	-	13	1635	c.1353A>G	c.(1351-1353)tcA>tcG	p.S451S	EBF1_ENST00000380654.4_Silent_p.S420S|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.S443S	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	451					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGCTTGTGATGCCTCGG	0.502			T	HMGA2	lipoma								20	70					0	0	0	0	C	158139994	T	C	158139994	2	2	118	1	0	0	0	0	0	0	0	1	4916	1683	59	5		5	EBF1	5	158139994	Silent	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	4990103	158139994	22775266	102	22195											
FBXW11	23291	broad.mit.edu	37	chr5	171327026	171327026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcactcgctgccattctttaCataccagctctgctgcacac	8	12	5	16	1	3	0	1	0	2	0	4	0	3	0	2	0	6	4	2	0	2	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:171327026C>T	ENST00000296933.6	-	4	783	c.413G>A	c.(412-414)tGt>tAt	p.C138Y	FBXW11_ENST00000265094.5_Missense_Mutation_p.C151Y|FBXW11_ENST00000393802.2_Missense_Mutation_p.C117Y|FBXW11_ENST00000425623.2_Missense_Mutation_p.C119Y|FBXW11_ENST00000522891.1_5'UTR	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	151	F-box.				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCATTCTTTACATACCAGCTC	0.448													49	148					0	0	0	0	T	171327026	C	T	171327026	3	4	118	1	0	0	0	0	1	0	0	0	5809	478	17	4	1212	4	FBXW11	5	171327026	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	13187032	171327026	9588234	103	22196											
TSPAN17	26262	broad.mit.edu	37	chr5	176083883	176083883	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactctcccctcacctgtcCtctgtcttacagatctttgg	5	15	5	16	0	6	1	2	0	4	1	8	1	7	1	4	1	1	0	4	1	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:176083883C>G	ENST00000298564.10	+	4	638	c.489C>G	c.(487-489)tcC>tcG	p.S163S	TSPAN17_ENST00000503045.1_Intron|TSPAN17_ENST00000508164.1_Intron|TSPAN17_ENST00000310032.8_Intron|TSPAN17_ENST00000405525.2_Intron|TSPAN17_ENST00000515708.1_Intron			Q96FV3	TSN17_HUMAN	tetraspanin 17	247						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCACCTGTCCTCTGTCTTAC	0.637													16	55					0	0	0	0	G	176083883	C	G	176083883	2	3	118	1	0	0	0	0	0	0	0	1	16736	696	24	4		4	TSPAN17	5	176083883	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	4756857	176083883	4831377	104	22197											
UNC5A	90249	broad.mit.edu	37	chr5	176304651	176304651	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accactgtggggagcccagcCctgacagctggagcctgcgc	7	5	14	15	1	0	1	0	1	0	0	0	3	0	3	4	3	5	1	4	3	0	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:176304651C>A	ENST00000329542.4	+	10	1856	c.1582C>A	c.(1582-1584)Cct>Act	p.P528T	UNC5A_ENST00000261961.3_Missense_Mutation_p.P488T	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	528	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGCCCAGCCCTGACAGCTG	0.642													10	23					0.000442599	0.000476247	1	0	A	176304651	C	A	176304651	3	1	118	1	0	0	0	0	1	0	0	0	17087	623	22	4	1620	4	UNC5A	5	176304651	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	220768	176304651	4610609	105	22198											
UIMC1	51720	broad.mit.edu	37	chr5	176370346	176370346	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctttacctgtatcttcCtccatcagaccattgcagta	8	14	7	12	0	3	1	1	0	2	1	5	1	5	1	4	1	2	3	4	1	3	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:176370346C>T	ENST00000377219.2	-	10	1753	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	UIMC1_ENST00000377227.4_Silent_p.E529E|UIMC1_ENST00000506128.1_Silent_p.E363E|UIMC1_ENST00000511320.1_Silent_p.E529E|UIMC1_ENST00000503273.1_5'UTR	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	529	Zinc-finger-like region.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTATCTTCCTCCATCAGAC	0.438													61	166					0	0	0	0	T	176370346	C	T	176370346	2	4	118	1	0	0	0	0	0	0	0	1	17067	680	24	4		4	UIMC1	5	176370346	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	65695	176370346	4544914	106	22199											
NSD1	64324	broad.mit.edu	37	chr5	176709482	176709482	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagggtgaatttgtgaatgAgtatgtgggtgagcttatag	10	14	15	2	0	0	4	0	4	0	0	0	4	0	4	0	2	1	2	0	2	6	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:176709482A>C	ENST00000439151.2	+	19	5954	c.5909A>C	c.(5908-5910)gAg>gCg	p.E1970A	NSD1_ENST00000347982.4_Missense_Mutation_p.E1701A|NSD1_ENST00000361032.4_Missense_Mutation_p.E1867A|NSD1_ENST00000354179.4_Missense_Mutation_p.E1701A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1970	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTGTGAATGAGTATGTGGGT	0.343			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			29	123					0	0	0	0	C	176709482	A	C	176709482	3	2	118	1	0	0	0	0	1	0	0	0	10740	304	11	5	5979	5	NSD1	5	176709482	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	339136	176709482	4205778	107	22200											
NSD1	64324	broad.mit.edu	37	chr5	176719160	176719160	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgaccaagcgaccagcagGttggtgccaaaatccatttg	11	9	10	11	1	1	1	0	1	1	0	2	2	2	1	4	2	3	2	4	2	3	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:176719160G>A	ENST00000439151.2	+	22	6508		c.e22+1		NSD1_ENST00000347982.4_Splice_Site|NSD1_ENST00000361032.4_Splice_Site|NSD1_ENST00000354179.4_Splice_Site	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1						negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CGACCAGCAGGTTGGTGCCAA	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			8	32					0	0	0	0	A	176719160	G	A	176719160	5	1	118	1	0	0	0	0	0	0	1	0	10740	1275	44	4	6546	4	NSD1	5	176719160	Splice_Site	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	9678	176719160	4196100	108	22201											
FAM50B	26240	broad.mit.edu	37	chr6	3850791	3850791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcctgccgcactaccacaCcttctacgacttcatcatcg	9	10	4	18	3	3	0	2	0	1	0	5	1	4	0	4	0	3	1	4	0	2	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:3850791C>T	ENST00000380274.1	+	1	1172	c.746C>T	c.(745-747)aCc>aTc	p.T249I	FAM50B_ENST00000380272.3_Missense_Mutation_p.T249I			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	249						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CACTACCACACCTTCTACGAC	0.642													10	57					0	0	0	0	T	3850791	C	T	3850791	3	4	118	1	0	0	0	0	1	0	0	0	5625	507	18	4	748	4	FAM50B	6	3850791	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08		3850791	167264276	109	22202											
F13A1	2162	broad.mit.edu	37	chr6	6305591	6305591	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatggcactcaccaatgacGtattccaccctgaagagatc	13	8	7	13	1	1	3	1	2	0	1	3	4	2	3	3	1	0	2	3	1	3	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:6305591G>T	ENST00000264870.3	-	3	577	c.312C>A	c.(310-312)taC>taA	p.Y104*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	104					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)	CACCAATGACGTATTCCACCC	0.488													7	42					0.00307968	0.00324734	1	0	T	6305591	G	T	6305591	4	4	118	1	0	0	0	0	0	1	0	0	5378	1140	40	3	1938	3	F13A1	6	6305591	Nonsense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	2454800	6305591	164809476	110	22203											
NRSN1	140767	broad.mit.edu	37	chr6	24145808	24145808	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaggtacagtttttgtgatCctcggattgactgttctggc	6	16	11	8	1	2	2	1	2	1	0	4	3	3	3	1	3	1	3	1	3	1	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:24145808C>A	ENST00000378491.4	+	4	523	c.222C>A	c.(220-222)atC>atA	p.I74I		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	74					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.L75I(1)|p.I74I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TTTTTGTGATCCTCGGATTGA	0.512													17	67					5.35267e-07	6.25327e-07	1	0	A	24145808	C	A	24145808	2	1	118	1	0	0	0	0	0	0	0	1	10733	845	30	2		2	NRSN1	6	24145808	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	17840217	24145808	146969259	111	22204											
BTN2A1	11120	broad.mit.edu	37	chr6	26468369	26468369	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattactgggaggtggaggtGgaaaacgtgattgagtggac	11	9	17	4	1	0	2	0	2	0	0	0	6	0	6	0	6	2	0	0	6	3	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:26468369G>T	ENST00000312541.5	+	8	1424	c.1176G>T	c.(1174-1176)gtG>gtT	p.V392V	BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000541522.1_Silent_p.V331V	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	392	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						AGGTGGAGGTGGAAAACGTGA	0.552													32	75					4.74835e-14	6.30828e-14	1	0	T	26468369	G	T	26468369	2	4	118	1	0	0	0	0	0	0	0	1	1569	1335	47	4		4	BTN2A1	6	26468369	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	2322561	26468369	144646698	112	22205											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27114944	27114944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaggcggtaaagctcgcGccaaggccaagacccgctct	11	4	12	14	4	1	1	0	0	1	1	2	1	1	1	3	3	2	4	3	3	5	1	rs150434841		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:27114944G>T	ENST00000377459.1	+	1	84	c.37G>T	c.(37-39)Gcc>Tcc	p.A13S		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	13					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TAAAGCTCGCGCCAAGGCCAA	0.577													13	78					7.03913e-09	8.52105e-09	1	0	T	27114944	G	T	27114944	3	4	118	1	0	0	0	0	1	0	0	0	7184	1087	38	3	39	3	HIST1H2AH	6	27114944	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	646575	27114944	144000123	113	22206											
HIST1H1B	3009	broad.mit.edu	37	chr6	27835199	27835199	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgggggccccgtcgcttTgcgcttagcagcgccggcgc	3	7	16	15	6	0	0	0	0	0	0	1	1	0	0	3	3	3	3	3	3	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:27835199T>G	ENST00000331442.3	-	1	160	c.109A>C	c.(109-111)Aaa>Caa	p.K37Q		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	37					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCCGTCGCTTTGCGCTTAGCA	0.617													26	76					0	0	0	0	G	27835199	T	G	27835199	3	3	118	1	0	0	0	0	1	0	0	0	7173	1821	63	5	575	5	HIST1H1B	6	27835199	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	720255	27835199	143279868	114	22207											
OR12D2	26529	broad.mit.edu	37	chr6	29364551	29364551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagaactgcagccttttctCttcgtggttttcctcaccat	7	15	6	13	1	2	1	1	0	1	1	5	1	3	1	3	1	3	2	3	1	2	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:29364551C>T	ENST00000383555.2	+	1	136	c.75C>T	c.(73-75)ctC>ctT	p.L25L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						AGCCTTTTCTCTTCGTGGTTT	0.433													25	116					0	0	0	0	T	29364551	C	T	29364551	2	4	118	1	0	0	0	0	0	0	0	1	11002	900	32	2		2	OR12D2	6	29364551	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1529352	29364551	141750516	115	22208											
SCUBE3	222663	broad.mit.edu	37	chr6	35182262	35182262	+	Frame_Shift_Del	DEL	T	T	-																															tccacgcccgcgccgcccagTacagcaaagccgcgcaaggt																										TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:35182262delT	ENST00000274938.7	+	1	67	c.67delT	c.(67-69)acfs	p.Y23fs	SCUBE3_ENST00000394681.1_Frame_Shift_Del_p.Y23fs	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	23					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CGCCGCCCAGTACAGCAAAGC	0.741													2	4	---	---	---	---					-	35182262	T	-	35182262	7	5	118	1	0	1	0	1	0	0	0	0	14033	1638	57	0	69	0	SCUBE3	6	35182262	Frame_Shift_Del	DEL	T	TCGA-CN-A63T-01A-11D-A28R-08	5817711	35182262	135932805	116	22209											
PKHD1	5314	broad.mit.edu	37	chr6	51917886	51917886	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattacctgttacgtttgTgtctgcaataataatttcat	11	18	6	6	1	2	1	1	1	1	0	2	1	2	1	1	0	3	3	1	0	5	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:51917886T>A	ENST00000371117.3	-	21	2403	c.2128A>T	c.(2128-2130)Aca>Tca	p.T710S	PKHD1_ENST00000340994.4_Missense_Mutation_p.T710S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	710					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTACGTTTGTGTCTGCAATA	0.478													7	24					0	0	0	0	A	51917886	T	A	51917886	3	1	118	1	0	0	0	0	1	0	0	0	12043	1696	59	5	10323	5	PKHD1	6	51917886	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	16735624	51917886	119197181	117	22210											
GSTA2	2939	broad.mit.edu	37	chr6	52619848	52619848	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaatctcaaccattggCacttgctggaacatcaaata	14	10	5	12	0	3	0	3	0	1	0	4	1	3	1	2	2	3	2	2	2	5	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:52619848C>A	ENST00000493422.1	-	4	320	c.165G>T	c.(163-165)gtG>gtT	p.V55V		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	55	GST N-terminal.|Glutathione binding.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	CAACCATTGGCACTTGCTGGA	0.403													15	83					7.93312e-07	9.20943e-07	1	0	A	52619848	C	A	52619848	2	1	118	1	0	0	0	0	0	0	0	1	6881	697	25	4		4	GSTA2	6	52619848	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	701962	52619848	118495219	118	22211											
BMP5	653	broad.mit.edu	37	chr6	55625272	55625272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgccatcccagatcccGgaagctcacatagagttcgt	10	9	8	14	2	1	2	1	0	0	2	4	3	3	3	4	1	3	2	4	1	3	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:55625272G>A	ENST00000370830.3	-	5	1785	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	BMP5_ENST00000446683.2_Missense_Mutation_p.R363W	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	363					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R363W(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCAGATCCCGGAAGCTCACA	0.358													13	51					0	0	0	0	A	55625272	G	A	55625272	3	1	118	1	0	0	0	0	1	0	0	0	1468	1115	39	1	289	1	BMP5	6	55625272	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	3005424	55625272	115489795	119	22212											
DST	667	broad.mit.edu	37	chr6	56473886	56473886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattgtggtaggtgacgcaGcagaaataatctccttagct	12	11	11	7	1	1	2	0	1	1	1	2	3	1	2	1	2	2	4	1	2	5	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:56473886G>T	ENST00000370754.5	-	39	5440	c.5441C>A	c.(5440-5442)gCt>gAt	p.A1814D	DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.A1636D|DST_ENST00000446842.2_Missense_Mutation_p.A1310D|DST_ENST00000361203.3_Missense_Mutation_p.A1636D|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.A1636D			Q03001	DYST_HUMAN	dystonin	1636					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTGACGCAGCAGAAATAAT	0.408													49	135					1.42923e-14	1.91257e-14	1	0	T	56473886	G	T	56473886	3	4	118	1	0	0	0	0	1	0	0	0	4819	986	34	4		4	DST	6	56473886	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	848614	56473886	114641181	120	22213											
EYS	346007	broad.mit.edu	37	chr6	66115185	66115185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcataagtataagcagaaCtgctatttgggcaaattcct	14	13	7	7	0	1	1	1	0	0	1	2	1	2	1	1	1	3	4	1	1	6	7			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:66115185C>A	ENST00000503581.1	-	6	1475	c.938G>T	c.(937-939)aGt>aTt	p.S313I	EYS_ENST00000393380.2_Missense_Mutation_p.S313I|EYS_ENST00000370618.3_Missense_Mutation_p.S313I|EYS_ENST00000370621.3_Missense_Mutation_p.S313I|EYS_ENST00000370616.2_Missense_Mutation_p.S313I|EYS_ENST00000342421.5_Missense_Mutation_p.S313I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	313					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATAAGCAGAACTGCTATTTGG	0.383													25	122					7.26314e-15	9.79061e-15	1	0	A	66115185	C	A	66115185	3	1	118	1	0	0	0	0	1	0	0	0	5370	565	20	4	8610	4	EYS	6	66115185	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	9641299	66115185	104999882	121	22214											
EYS	346007	broad.mit.edu	37	chr6	66205191	66205191	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtccaatttaccacatatGatgagggttgtggatgccat	10	13	11	7	0	0	2	0	2	0	0	1	3	1	3	3	2	2	1	3	2	3	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:66205191G>C	ENST00000503581.1	-	4	650	c.113C>G	c.(112-114)tCa>tGa	p.S38*	EYS_ENST00000393380.2_Nonsense_Mutation_p.S38*|EYS_ENST00000370618.3_Nonsense_Mutation_p.S38*|EYS_ENST00000370621.3_Nonsense_Mutation_p.S38*|EYS_ENST00000370616.2_Nonsense_Mutation_p.S38*|EYS_ENST00000342421.5_Nonsense_Mutation_p.S38*	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	38					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TACCACATATGATGAGGGTTG	0.393													25	77					0	0	0	0	C	66205191	G	C	66205191	4	2	118	1	0	0	0	0	0	1	0	0	5370	1294	45	2	9443	2	EYS	6	66205191	Nonsense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	90006	66205191	104909876	122	22215											
PREP	5550	broad.mit.edu	37	chr6	105845800	105845800	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatgaccatgataatcctgTacctgtaaaaaacaaaatga	18	11	5	7	0	0	3	0	3	0	0	1	3	1	3	3	0	2	2	3	0	8	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:105845800T>C	ENST00000369110.3	-	2	240	c.48A>G	c.(46-48)gtA>gtG	p.V16V		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	16				V -> I (in Ref. 2; BAA04661).	proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GATAATCCTGTACCTGTAAAA	0.348													5	47					0	0	0	0	C	105845800	T	C	105845800	2	2	118	1	0	0	0	0	0	0	0	1	12554	1625	57	5		5	PREP	6	105845800	Silent	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	39640609	105845800	65269267	123	22216											
EPB41L2	2037	broad.mit.edu	37	chr6	131190744	131190744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaaaacatcaatgtcaaCatgggacacctctccgttaa	14	9	7	11	1	3	0	2	0	1	0	4	1	3	1	2	2	2	2	2	2	5	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:131190744C>T	ENST00000337057.3	-	15	2747	c.2566G>A	c.(2566-2568)Gtt>Att	p.V856I	EPB41L2_ENST00000529208.1_Missense_Mutation_p.V786I|EPB41L2_ENST00000527411.1_Missense_Mutation_p.V786I|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.V856I|EPB41L2_ENST00000524581.1_Missense_Mutation_p.V234I|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530757.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	856	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCAATGTCAACATGGGACACC	0.483													4	77					0	0	0	0	T	131190744	C	T	131190744	3	4	118	1	0	0	0	0	1	0	0	0	5191	478	17	4	471	4	EPB41L2	6	131190744	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	25344944	131190744	39924323	124	22217											
SYNE1	23345	broad.mit.edu	37	chr6	152443755	152443755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgaacaggaagccgcggCcggaccgacctggccctggc	7	4	14	16	4	1	1	0	1	1	0	1	4	1	3	5	5	2	0	5	5	2	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:152443755C>T	ENST00000367255.5	-	146	26811	c.26210G>A	c.(26209-26211)gGc>gAc	p.G8737D	SYNE1_ENST00000423061.1_Missense_Mutation_p.G8689D|ESR1_ENST00000544394.1_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.G8689D|SYNE1_ENST00000539504.1_Missense_Mutation_p.G892D|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.G8349D|SYNE1_ENST00000354674.4_Missense_Mutation_p.G915D|SYNE1_ENST00000356820.4_Missense_Mutation_p.G3261D|SYNE1_ENST00000265368.4_Missense_Mutation_p.G8737D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8737					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAAGCCGCGGCCGGACCGACC	0.557										HNSCC(10;0.0054)			43	68					0	0	0	0	T	152443755	C	T	152443755	3	4	118	1	0	0	0	0	1	0	0	0	15536	739	26	4	187	4	SYNE1	6	152443755	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	21253011	152443755	18671312	125	22218											
PDE10A	10846	broad.mit.edu	37	chr6	165792724	165792724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttagtgatccggtctggtaCatctcttccaactgcttcct	6	16	7	12	1	2	1	0	1	2	0	6	1	5	1	3	2	3	2	3	2	3	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:165792724C>T	ENST00000366882.1	-	19	2068	c.1914G>A	c.(1912-1914)atG>atA	p.M638I	PDE10A_ENST00000354448.4_Missense_Mutation_p.M638I|PDE10A_ENST00000539869.2_Missense_Mutation_p.M648I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	638					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CGGTCTGGTACATCTCTTCCA	0.383													9	59					0	0	0	0	T	165792724	C	T	165792724	3	4	118	1	0	0	0	0	1	0	0	0	11701	478	17	4	445	4	PDE10A	6	165792724	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	13348969	165792724	5322343	126	22219											
THSD7A	221981	broad.mit.edu	37	chr7	11676123	11676123	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggggcgccaccacatgaCgcgtccggtgctggagcccg	5	4	17	15	6	0	1	0	1	0	0	1	2	1	2	4	4	2	1	4	4	0	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:11676123C>G	ENST00000423059.3	-	2	907	c.656G>C	c.(655-657)cGt>cCt	p.R219P		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	219	TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CACCACATGACGCGTCCGGTG	0.617										HNSCC(18;0.044)			9	34					0	0	0	0	G	11676123	C	G	11676123	3	3	118	1	0	0	0	0	1	0	0	0	15973	536	19	3	4421	3	THSD7A	7	11676123	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08		11676123	147462540	127	22220											
TWISTNB	221830	broad.mit.edu	37	chr7	19744535	19744535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatcatatgcaatagggacaCctaaaaggctgtaaaaagaa	19	8	8	6	0	1	1	1	0	0	1	1	2	1	2	1	2	1	3	1	2	10	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:19744535C>A	ENST00000222567.5	-	2	333	c.263G>T	c.(262-264)gGt>gTt	p.G88V		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	88						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						AATAGGGACACCTAAAAGGCT	0.348													10	39					1.33987e-11	1.71206e-11	1	0	A	19744535	C	A	19744535	3	1	118	1	0	0	0	0	1	0	0	0	16880	507	18	4	765	4	TWISTNB	7	19744535	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	8068412	19744535	139394128	128	22221											
DNAH11	8701	broad.mit.edu	37	chr7	21639538	21639538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacttctttctgaagaataCagagaaacaattgaaaccgg	17	9	8	7	1	2	5	0	2	2	3	2	6	2	5	1	1	3	0	1	1	6	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:21639538C>A	ENST00000328843.6	+	15	2832	c.2801C>A	c.(2800-2802)aCa>aAa	p.T934K	DNAH11_ENST00000409508.3_Missense_Mutation_p.T934K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	934	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGAAGAATACAGAGAAACAA	0.408									Kartagener syndrome				10	27					0.00621372	0.00653328	1	0	A	21639538	C	A	21639538	3	1	118	1	0	0	0	0	1	0	0	0	4636	478	17	4	2859	4	DNAH11	7	21639538	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1895003	21639538	137499125	129	22222											
NPY	4852	broad.mit.edu	37	chr7	24324966	24324966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctccaagccggacaaccCgggcgaggacgcaccagcgg	9	1	13	18	5	0	0	0	0	0	0	1	3	1	2	6	4	3	1	6	4	2	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:24324966C>A	ENST00000407573.1	+	3	397	c.107C>A	c.(106-108)cCg>cAg	p.P36Q	NPY_ENST00000405982.1_Missense_Mutation_p.P36Q|NPY_ENST00000242152.2_Missense_Mutation_p.P36Q			P01303	NPY_HUMAN	neuropeptide Y	36					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CCGGACAACCCGGGCGAGGAC	0.672													14	39					4.36969e-10	5.451e-10	1	0	A	24324966	C	A	24324966	3	1	118	1	0	0	0	0	1	0	0	0	10678	652	23	3	109	3	NPY	7	24324966	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	2685428	24324966	134813697	130	22223											
NPY	4852	broad.mit.edu	37	chr7	24324980	24324980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaacccgggcgaggacgcaCcagcggaggacatggccaga	12	1	15	13	4	0	1	0	0	0	1	0	5	0	4	3	5	2	1	3	5	1	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:24324980C>A	ENST00000407573.1	+	3	411	c.121C>A	c.(121-123)Cca>Aca	p.P41T	NPY_ENST00000405982.1_Missense_Mutation_p.P41T|NPY_ENST00000242152.2_Missense_Mutation_p.P41T			P01303	NPY_HUMAN	neuropeptide Y	41					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CGAGGACGCACCAGCGGAGGA	0.687													13	34					3.27435e-08	3.89955e-08	1	0	A	24324980	C	A	24324980	3	1	118	1	0	0	0	0	1	0	0	0	10678	507	18	4	123	4	NPY	7	24324980	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	14	24324980	134813683	131	22224											
TRIL	9865	broad.mit.edu	37	chr7	28997564	28997564	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagatgctggggatgctGgcagtcgcagcgctccgggc	6	6	18	11	3	0	1	0	0	0	1	2	3	1	2	1	5	3	5	1	5	0	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:28997564G>A	ENST00000322982.3	-	0	370				AC005013.5_ENST00000436594.1_lincRNA			Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										TGGGGATGCTGGCAGTCGCAG	0.721													15	32					0	0	0	0	A	28997564	G	A	28997564	1	1	118	0	1	0	0	0	0	0	0	0	16580	1335	47	4		4	TRIL	7	28997564	RNA	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	4672584	28997564	130141099	132	22225											
KIAA0895	23366	broad.mit.edu	37	chr7	36396959	36396959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctacgagaagtgttaggaGatttgctgggttttctacat	9	15	12	5	1	1	2	0	0	1	2	1	4	1	2	0	2	4	4	0	2	4	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:36396959G>A	ENST00000317020.6	-	2	566	c.266C>T	c.(265-267)tCt>tTt	p.S89F	KIAA0895_ENST00000338533.5_Missense_Mutation_p.S127F|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000297063.6_Missense_Mutation_p.S140F|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000415803.2_Missense_Mutation_p.S127F|KIAA0895_ENST00000440378.1_Missense_Mutation_p.S89F	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	140										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGTGTTAGGAGATTTGCTGGG	0.468													15	37					0	0	0	0	A	36396959	G	A	36396959	3	1	118	1	0	0	0	0	1	0	0	0	8248	942	33	2	1163	2	KIAA0895	7	36396959	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	7399395	36396959	122741704	133	22226											
AOAH	313	broad.mit.edu	37	chr7	36677511	36677511	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtagtgtaaatttccaTgtctcctataaaaacaaagt	14	15	5	7	0	2	0	0	0	2	0	4	0	3	0	2	0	1	2	2	0	8	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:36677511T>C	ENST00000431169.1	-	5	696	c.396A>G	c.(394-396)acA>acG	p.T132T	AOAH_ENST00000535891.1_Silent_p.T100T|AOAH_ENST00000258749.5_Silent_p.T132T	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	132					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TAAATTTCCATGTCTCCTATA	0.358													5	34					0	0	0	0	C	36677511	T	C	36677511	2	2	118	1	0	0	0	0	0	0	0	1	727	1451	51	5		5	AOAH	7	36677511	Silent	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	280552	36677511	122461152	134	22227											
POM121L12	285877	broad.mit.edu	37	chr7	53103925	53103925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcagccagtgccccaaGggaagcgctaggttcgacgg	8	5	15	13	4	1	0	1	0	0	0	2	2	1	1	3	3	3	3	3	3	3	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:53103925G>T	ENST00000408890.4	+	1	577	c.561G>T	c.(559-561)aaG>aaT	p.K187N		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	187										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGTGCCCCAAGGGAAGCGCTA	0.711													23	81					2.89027e-11	3.66765e-11	1	0	T	53103925	G	T	53103925	3	4	118	1	0	0	0	0	1	0	0	0	12313	991	35	4	563	4	POM121L12	7	53103925	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	16426414	53103925	106034738	135	22228											
ZNF479	90827	broad.mit.edu	37	chr7	57188671	57188671	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatattttgttttgggtagTtgacaaacattggttaactt	12	18	8	3	0	0	1	0	1	0	0	0	1	0	1	0	2	2	4	0	2	5	10			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:57188671T>C	ENST00000331162.4	-	5	721	c.451A>G	c.(451-453)Act>Gct	p.T151A		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTTGGGTAGTTGACAAACAT	0.303													17	55					0	0	0	0	C	57188671	T	C	57188671	3	2	118	1	0	0	0	0	1	0	0	0	18028	1725	60	5	1127	5	ZNF479	7	57188671	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	4084746	57188671	101949992	136	22229											
MAGI2	9863	broad.mit.edu	37	chr7	77764436	77764436	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatagactggccattcActgctaggatccggtctccc	8	11	10	12	1	2	3	1	2	1	1	4	4	3	4	3	3	1	1	3	3	2	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:77764436A>T	ENST00000354212.4	-	17	3186	c.2933T>A	c.(2932-2934)gTg>gAg	p.V978E	MAGI2_ENST00000522391.1_Missense_Mutation_p.V978E|MAGI2_ENST00000419488.1_Missense_Mutation_p.V964E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	978	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGGCCATTCACTGCTAGGAT	0.502													27	69					0	0	0	0	T	77764436	A	T	77764436	3	4	118	1	0	0	0	0	1	0	0	0	9260	159	6	5	1458	5	MAGI2	7	77764436	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	20575765	77764436	81374227	137	22230											
PCLO	27445	broad.mit.edu	37	chr7	82579452	82579452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccttgatctagtaggCatatcccactcatcctgatc	8	14	5	14	0	2	2	1	2	1	0	7	2	6	2	4	1	0	2	4	1	3	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:82579452C>A	ENST00000423517.2	-	6	10789	c.10452G>T	c.(10450-10452)atG>atT	p.M3484I	PCLO_ENST00000333891.8_Missense_Mutation_p.M3484I|PCLO_ENST00000437081.1_Missense_Mutation_p.M204I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3415					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTAGTAGGCATATCCCACT	0.468													11	44					6.40141e-05	6.94902e-05	1	0	A	82579452	C	A	82579452	3	1	118	1	0	0	0	0	1	0	0	0	11654	710	25	4	5073	4	PCLO	7	82579452	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	4815016	82579452	76559211	138	22231											
COL1A2	1278	broad.mit.edu	37	chr7	94037685	94037685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaagtgtgggtcccgtggGtcctgctgtaagttttgaca	6	13	15	7	1	0	1	0	1	0	0	2	2	2	2	2	3	1	3	2	3	2	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:94037685G>A	ENST00000297268.6	+	15	1202	c.731G>A	c.(730-732)gGt>gAt	p.G244D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	244					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTCCCGTGGGTCCTGCTGTA	0.438										HNSCC(75;0.22)			26	77					0	0	0	0	A	94037685	G	A	94037685	3	1	118	1	0	0	0	0	1	0	0	0	3708	1261	44	4	789	4	COL1A2	7	94037685	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	11458233	94037685	65100978	139	22232											
PON2	5445	broad.mit.edu	37	chr7	95035502	95035502	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgacagcctacccagaTgtcccccgaggaaggatcaa	13	5	11	12	1	1	2	1	1	0	1	2	6	2	5	4	3	2	0	4	3	3	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:95035502T>C	ENST00000536183.1	-	8	1081	c.898A>G	c.(898-900)Atc>Gtc	p.I300V	PON2_ENST00000222572.3_Missense_Mutation_p.I279V|PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.I267V	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	279					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CCTACCCAGATGTCCCCCGAG	0.403													20	104					0	0	0	0	C	95035502	T	C	95035502	3	2	118	1	0	0	0	0	1	0	0	0	12321	1464	51	5	237	5	PON2	7	95035502	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	997817	95035502	64103161	140	22233											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97941556	97941556	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccaccgaggcagcttGgaattcagtagttctgcaga	9	10	11	11	1	2	1	1	0	1	1	3	3	3	2	3	2	3	5	3	2	2	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:97941556G>T	ENST00000005260.8	-	8	875	c.660C>A	c.(658-660)tcC>tcA	p.S220S	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	220	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGCAGCTTGGAATTCAGTA	0.448													41	155					9.84934e-19	1.34742e-18	1	0	T	97941556	G	T	97941556	2	4	118	1	0	0	0	0	0	0	0	1	1306	1335	47	4		4	BAIAP2L1	7	97941556	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	2906054	97941556	61197107	141	22234											
FBXL13	222235	broad.mit.edu	37	chr7	102453882	102453882	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgtcaagctctgtaacAgggtttccttccctatcata	9	15	7	10	0	3	0	2	0	1	0	5	0	5	0	2	1	2	4	2	1	4	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:102453882A>T	ENST00000393772.2	-	19	2457	c.2031T>A	c.(2029-2031)ccT>ccA	p.P677P	FBXL13_ENST00000456695.1_Silent_p.P423P|FBXL13_ENST00000455112.2_Silent_p.P660P|FBXL13_ENST00000436908.1_Silent_p.P705P|FBXL13_ENST00000379305.3_Silent_p.P677P|FBXL13_ENST00000379306.3_Silent_p.P423P|FBXL13_ENST00000379308.3_Silent_p.P660P|FBXL13_ENST00000313221.4_Silent_p.P705P			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	705										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GCTCTGTAACAGGGTTTCCTT	0.433													25	69					0	0	0	0	T	102453882	A	T	102453882	2	4	118	1	0	0	0	0	0	0	0	1	5754	175	7	5		5	FBXL13	7	102453882	Silent	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	4512326	102453882	56684781	142	22235											
LHFPL3	375612	broad.mit.edu	37	chr7	104377184	104377184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactcagatgaagtaaaaCggatgtgtggagaaaagaca	17	6	14	4	1	1	4	1	1	0	3	1	7	1	6	0	3	1	1	0	3	5	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:104377184C>T	ENST00000535008.1	+	4	632	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	LHFPL3_ENST00000401970.2_Missense_Mutation_p.R156W|LHFPL3_ENST00000424859.1_Missense_Mutation_p.R156W|LHFPL3_ENST00000543266.1_Missense_Mutation_p.R170W			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	156						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						TGAAGTAAAACGGATGTGTGG	0.453													10	18					0	0	0	0	T	104377184	C	T	104377184	3	4	118	1	0	0	0	0	1	0	0	0	8820	527	19	1	514	1	LHFPL3	7	104377184	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1923302	104377184	54761479	143	22236											
CFTR	1080	broad.mit.edu	37	chr7	117171079	117171079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccttctctttattgtgAggacactgctcctacaccca	8	14	6	13	0	1	1	0	1	1	0	3	2	2	2	3	1	3	1	3	1	3	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:117171079A>G	ENST00000003084.6	+	4	532	c.400A>G	c.(400-402)Agg>Ggg	p.R134G	CFTR_ENST00000454343.1_Missense_Mutation_p.R134G	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	134	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTTTATTGTGAGGACACTGCT	0.418									Cystic Fibrosis				9	36					0	0	0	0	G	117171079	A	G	117171079	3	3	118	1	0	0	0	0	1	0	0	0	3323	295	11	5	414	5	CFTR	7	117171079	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	12793895	117171079	41967584	144	22237											
CTTNBP2	83992	broad.mit.edu	37	chr7	117351767	117351767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagatttaactcttgaaaCacccaactcagtctttgatt	15	13	4	9	0	3	3	1	2	2	1	3	3	3	3	1	0	3	0	1	0	5	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:117351767C>T	ENST00000160373.3	-	23	4907	c.4816G>A	c.(4816-4818)Gtt>Att	p.V1606I	CFTR_ENST00000429014.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1606										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACTCTTGAAACACCCAACTCA	0.418													23	46					0	0	0	0	T	117351767	C	T	117351767	3	4	118	1	0	0	0	0	1	0	0	0	4077	478	17	4	179	4	CTTNBP2	7	117351767	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	180688	117351767	41786896	145	22238											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138391439	138391439	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttgtaaccatccccgacaTagaacttgttctggaactca	12	11	6	12	1	2	1	1	0	1	1	3	3	3	2	3	1	3	2	3	1	4	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:138391439T>C	ENST00000310018.2	-	22	2735	c.2453A>G	c.(2452-2454)tAt>tGt	p.Y818C	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.Y818C|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.Y818C	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	818					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATCCCCGACATAGAACTTGTT	0.522													7	60					0	0	0	0	C	138391439	T	C	138391439	3	2	118	1	0	0	0	0	1	0	0	0	1174	1406	49	5	73	5	ATP6V0A4	7	138391439	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	21039672	138391439	20747224	146	22239											
KIAA1549	57670	broad.mit.edu	37	chr7	138545898	138545898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacttacactgcagggattgTtggccgtctgggctgggctg	5	12	15	9	1	1	0	0	0	1	0	1	1	1	1	1	4	3	4	1	4	2	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:138545898T>C	ENST00000440172.1	-	16	5282	c.5234A>G	c.(5233-5235)aAc>aGc	p.N1745S	KIAA1549_ENST00000242365.4_Missense_Mutation_p.N1695S|KIAA1549_ENST00000422774.1_Missense_Mutation_p.N1745S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1745						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCAGGGATTGTTGGCCGTCTG	0.587			O	BRAF	pilocytic astrocytoma								13	41					0	0	0	0	C	138545898	T	C	138545898	3	2	118	1	0	0	0	0	1	0	0	0	8295	1725	60	5	638	5	KIAA1549	7	138545898	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	154459	138545898	20592765	147	22240											
TAS2R38	5726	broad.mit.edu	37	chr7	141672584	141672584	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcacagctctcctcaacttGgcattgcctgagatcaggat	10	11	8	12	0	4	1	3	1	1	1	5	3	4	2	2	2	3	2	2	2	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:141672584G>A	ENST00000547270.1	-	1	989	c.906C>T	c.(904-906)gcC>gcT	p.A302A		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	302					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TCCTCAACTTGGCATTGCCTG	0.532													20	43					0	0	0	0	A	141672584	G	A	141672584	2	1	118	1	0	0	0	0	0	0	0	1	15666	1335	47	4		4	TAS2R38	7	141672584	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	3126686	141672584	17466079	148	22241											
MGAM	8972	broad.mit.edu	37	chr7	141765207	141765207	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttccctcttctggccgctgGgcaggacattggctgggaga	5	11	14	11	1	2	1	0	0	2	1	3	3	3	2	2	5	0	3	2	5	0	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:141765207G>C	ENST00000475668.2	+	38	4611	c.4557G>C	c.(4555-4557)tgG>tgC	p.W1519C	MGAM_ENST00000549489.2_Missense_Mutation_p.W1519C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1519	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGGCCGCTGGGCAGGACATT	0.612													4	18					0	0	0	0	C	141765207	G	C	141765207	3	2	118	1	0	0	0	0	1	0	0	0	9610	1241	43	4	4703	4	MGAM	7	141765207	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	92623	141765207	17373456	149	22242											
GSTK1	373156	broad.mit.edu	37	chr7	142962252	142962252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaccttccccaggcacGttttcagggtcatgatcctg	6	13	9	13	1	3	2	2	2	1	0	5	2	5	2	4	2	0	2	4	2	0	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:142962252G>A	ENST00000479303.1	+	4	509	c.451G>A	c.(451-453)Gtt>Att	p.V151I	AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000358406.5_Intron|GSTK1_ENST00000443571.2_Intron|GSTK1_ENST00000409500.3_Intron	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	138						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	CCCCAGGCACGTTTTCAGGGT	0.622													8	24					0	0	0	0	A	142962252	G	A	142962252	3	1	118	1	0	0	0	0	1	0	0	0	6886	1145	40	1	465	1	GSTK1	7	142962252	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	1197045	142962252	16176411	150	22243											
ERICH1	157697	broad.mit.edu	37	chr8	623640	623640	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtgtcaggtcttcctcgcTagcgtccgcaccatcttcct	4	12	8	17	4	3	0	1	0	2	0	7	0	6	0	5	1	1	2	5	1	1	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:623640T>A	ENST00000262109.7	-	4	789	c.712A>T	c.(712-714)Agc>Tgc	p.S238C	ERICH1_ENST00000522706.1_Missense_Mutation_p.S144C	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	238	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCTTCCTCGCTAGCGTCCGCA	0.622													38	181					0	0	0	0	A	623640	T	A	623640	3	1	118	1	0	0	0	0	1	0	0	0	5268	1522	53	5	631	5	ERICH1	8	623640	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08		623640	145740382	151	22244											
ADAM28	10863	broad.mit.edu	37	chr8	24199226	24199226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcctgaagacacaagtcaaGaaataggcatggtggccaat	16	7	10	8	0	1	3	1	1	0	2	2	3	2	3	2	3	0	1	2	3	6	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:24199226G>C	ENST00000265769.4	+	16	1896	c.1786G>C	c.(1786-1788)Gaa>Caa	p.E596Q	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.E343Q	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	596	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CACAAGTCAAGAAATAGGCAT	0.408													27	102					0	0	0	0	C	24199226	G	C	24199226	3	2	118	1	0	0	0	0	1	0	0	0	246	943	33	2	1904	2	ADAM28	8	24199226	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	23575586	24199226	122164796	152	22245											
PCMTD1	115294	broad.mit.edu	37	chr8	52733186	52733186	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggagccctttgaggaatccCcttggcctgcatctcatcat	7	12	9	13	0	2	1	2	1	1	0	4	3	3	3	4	3	2	1	4	3	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:52733186C>A	ENST00000360540.5	-	7	1205	c.799G>T	c.(799-801)Ggg>Tgg	p.G267W	PCMTD1_ENST00000544451.1_Missense_Mutation_p.G191W|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.G267W	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	267						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGAGGAATCCCCTTGGCCTGC	0.423													5	142					3.59834e-05	3.94103e-05	1	0	A	52733186	C	A	52733186	3	1	118	1	0	0	0	0	1	0	0	0	11657	623	22	4	278	4	PCMTD1	8	52733186	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	28533960	52733186	93630836	153	22246											
ST18	9705	broad.mit.edu	37	chr8	53049182	53049182	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagttggcagccatgagggaTtttagagtcttatctgctaa	10	13	12	6	0	2	2	0	1	2	1	2	4	2	3	1	2	2	3	1	2	3	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:53049182T>C	ENST00000276480.7	-	19	2951	c.2268A>G	c.(2266-2268)aaA>aaG	p.K756K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	756						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCATGAGGGATTTTAGAGTCT	0.483													9	18					0	0	0	0	C	53049182	T	C	53049182	2	2	118	1	0	0	0	0	0	0	0	1	15302	1490	52	5		5	ST18	8	53049182	Silent	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	315996	53049182	93314840	154	22247											
OPRK1	4986	broad.mit.edu	37	chr8	54163396	54163396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagcccacgacgaacactaCggagtagaccgccgtgatga	13	4	11	13	5	0	3	0	2	0	1	0	6	0	4	3	1	3	1	3	1	4	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:54163396C>T	ENST00000265572.3	-	2	499	c.202G>A	c.(202-204)Gta>Ata	p.V68I	OPRK1_ENST00000520287.1_Missense_Mutation_p.V68I	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	68					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ACGAACACTACGGAGTAGACC	0.701													4	50					0	0	0	0	T	54163396	C	T	54163396	3	4	118	1	0	0	0	0	1	0	0	0	10956	536	19	1	952	1	OPRK1	8	54163396	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1114214	54163396	92200626	155	22248											
ATP6V1H	51606	broad.mit.edu	37	chr8	54669137	54669137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgcctcgtggataatgccGcacatattctccaacatcgt	9	13	7	12	3	1	0	0	0	1	0	4	1	1	1	3	1	3	1	3	1	3	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:54669137G>A	ENST00000355221.3	-	11	1760	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R379W|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.R419W|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R419W|ATP6V1H_ENST00000523899.1_Intron	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	419					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GGATAATGCCGCACATATTCT	0.368													8	44					0	0	0	0	A	54669137	G	A	54669137	3	1	118	1	0	0	0	0	1	0	0	0	1193	1086	38	1	208	1	ATP6V1H	8	54669137	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	505741	54669137	91694885	156	22249											
RP1	6101	broad.mit.edu	37	chr8	55533822	55533822	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcgcctggaggagctggAggacggcgagtcctacctat	8	6	15	12	4	0	0	0	0	0	0	1	5	1	4	3	5	2	1	3	5	2	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:55533822A>G	ENST00000220676.1	+	2	444	c.296A>G	c.(295-297)gAg>gGg	p.E99G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	99	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGGAGCTGGAGGACGGCGAG	0.657													25	135					0	0	0	0	G	55533822	A	G	55533822	3	3	118	1	0	0	0	0	1	0	0	0	13617	304	11	5	298	5	RP1	8	55533822	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	864685	55533822	90830200	157	22250											
NSMAF	8439	broad.mit.edu	37	chr8	59518528	59518528	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagagatcatctctatcttGaggttcatagaactttaggt	12	15	8	6	0	4	3	2	1	2	2	5	4	4	3	0	2	1	1	0	2	5	7			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:59518528G>C	ENST00000038176.3	-	12	1038	c.826C>G	c.(826-828)Caa>Gaa	p.Q276E	NSMAF_ENST00000427130.2_Missense_Mutation_p.Q307E|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	276					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TCTCTATCTTGAGGTTCATAG	0.333													18	23					0	0	0	0	C	59518528	G	C	59518528	3	2	118	1	0	0	0	0	1	0	0	0	10745	1299	45	2	2007	2	NSMAF	8	59518528	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	3984706	59518528	86845494	158	22251											
MSC	9242	broad.mit.edu	37	chr8	72756405	72756405	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggatcactcaccgagccCgtggacatcccgttgtcccc	6	8	9	18	4	2	0	2	0	0	0	5	3	5	2	6	2	1	1	6	2	0	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:72756405C>T	ENST00000325509.4	-	1	298	c.9G>A	c.(7-9)acG>acA	p.T3T	RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	3					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TCACCGAGCCCGTGGACATCC	0.711													16	42					0	0	0	0	T	72756405	C	T	72756405	2	4	118	1	0	0	0	0	0	0	0	1	9938	639	23	1		1	MSC	8	72756405	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	13237877	72756405	73607617	159	22252											
TRPA1	8989	broad.mit.edu	37	chr8	72975701	72975701	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaagcctcaactcaccaaAccttagtattatttccatgc	14	11	4	12	0	2	0	2	0	0	0	3	1	3	0	4	0	4	1	4	0	7	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:72975701A>T	ENST00000262209.4	-	5	865	c.658T>A	c.(658-660)Ttt>Att	p.F220I		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	220						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AACTCACCAAACCTTAGTATT	0.323													6	41					0	0	0	0	T	72975701	A	T	72975701	3	4	118	1	0	0	0	0	1	0	0	0	16672	43	2	5	2793	5	TRPA1	8	72975701	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	219296	72975701	73388321	160	22253											
RUNX1T1	862	broad.mit.edu	37	chr8	92972525	92972525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggtggttgacctcggaGtggctgctggtggtgtgtcc	2	11	19	9	2	0	1	0	1	0	0	2	2	1	2	3	7	1	3	3	7	0	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:92972525G>C	ENST00000523629.1	-	12	2214	c.1760C>G	c.(1759-1761)aCt>aGt	p.T587S	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T550S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T560S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T560S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T550S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T598S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T587S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T550S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	587					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)			TGACCTCGGAGTGGCTGCTGG	0.622													7	14					0	0	0	0	C	92972525	G	C	92972525	3	2	118	1	0	0	0	0	1	0	0	0	13832	1029	36	4	58	4	RUNX1T1	8	92972525	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	19996824	92972525	53391497	161	22254											
RUNX1T1	862	broad.mit.edu	37	chr8	92998397	92998397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggactctgctgcctagagtGgctgctgctactgccgccac	5	9	13	14	1	1	1	0	0	1	1	1	2	1	2	3	2	6	4	3	2	2	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:92998397G>T	ENST00000523629.1	-	9	1688	c.1234C>A	c.(1234-1236)Cac>Aac	p.H412N	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H375N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H385N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H385N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H375N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H423N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H412N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H375N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	412	Poly-Ser.				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)			TGCCTAGAGTGGCTGCTGCTA	0.488													48	154					7.05377e-20	9.7586e-20	1	0	T	92998397	G	T	92998397	3	4	118	1	0	0	0	0	1	0	0	0	13832	1348	47	4	596	4	RUNX1T1	8	92998397	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	25872	92998397	53365625	162	22255											
MATN2	4147	broad.mit.edu	37	chr8	99019808	99019808	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagggacacgtgctccgcAgcgatgggaagacgtgtgca	9	6	16	10	4	0	2	0	1	0	1	1	5	1	4	1	2	3	3	1	2	1	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:99019808A>C	ENST00000254898.5	+	10	1783	c.1552A>C	c.(1552-1554)Agc>Cgc	p.S518R	MATN2_ENST00000520016.1_Missense_Mutation_p.S518R|MATN2_ENST00000524308.1_Missense_Mutation_p.S477R|MATN2_ENST00000522025.2_Missense_Mutation_p.S234R|MATN2_ENST00000521689.1_Missense_Mutation_p.S518R	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	518	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CGTGCTCCGCAGCGATGGGAA	0.562													43	76					0	0	0	0	C	99019808	A	C	99019808	3	2	118	1	0	0	0	0	1	0	0	0	9403	188	7	5	1586	5	MATN2	8	99019808	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	6021411	99019808	47344214	163	22256											
VPS13B	157680	broad.mit.edu	37	chr8	100791000	100791000	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcagagaaccacacaTgtatcttcgacagtggaata	13	11	7	10	1	2	1	1	0	1	1	4	4	3	2	2	1	1	1	2	1	4	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:100791000T>C	ENST00000358544.2	+	42	7706	c.7595T>C	c.(7594-7596)aTg>aCg	p.M2532T	VPS13B_ENST00000357162.2_Missense_Mutation_p.M2507T|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2532					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAACCACACATGTATCTTCGA	0.418													51	82					0	0	0	0	C	100791000	T	C	100791000	3	2	118	1	0	0	0	0	1	0	0	0	17286	1464	51	5	7951	5	VPS13B	8	100791000	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	1771192	100791000	45573022	164	22257											
RIMS2	9699	broad.mit.edu	37	chr8	104898192	104898192	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcgtactgactcactacgGaaacagcaccacttagatcc	13	7	8	13	2	1	2	1	1	0	1	2	3	2	3	2	2	4	2	2	2	4	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:104898192G>T	ENST00000507740.1	+	2	1025	c.789G>T	c.(787-789)cgG>cgT	p.R263R	RIMS2_ENST00000262231.10_Silent_p.R263R|RIMS2_ENST00000436393.2_Silent_p.R233R|RIMS2_ENST00000406091.3_Silent_p.R455R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	486					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACTCACTACGGAAACAGCACC	0.453										HNSCC(12;0.0054)			18	90					5.03518e-11	6.36752e-11	1	0	T	104898192	G	T	104898192	2	4	118	1	0	0	0	0	0	0	0	1	13453	1161	41	2		2	RIMS2	8	104898192	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	4107192	104898192	41465830	165	22258											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457728	110457728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaaattatttccatcaaccCcaatgaagtctactgccgca	13	11	4	13	1	3	1	2	1	1	0	4	1	4	1	4	0	3	1	4	0	6	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:110457728C>T	ENST00000378402.5	+	38	5734	c.5630C>T	c.(5629-5631)cCc>cTc	p.P1877L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1877	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCATCAACCCCAATGAAGTC	0.433										HNSCC(38;0.096)			8	24					0	0	0	0	T	110457728	C	T	110457728	3	4	118	1	0	0	0	0	1	0	0	0	12044	623	22	4	5780	4	PKHD1L1	8	110457728	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	5559536	110457728	35906294	166	22259											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477163	110477163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggtggggtgaaaccaatgGagcggtgattaaaaatgcca	14	7	15	5	1	0	2	0	2	0	0	0	3	0	3	2	5	3	0	2	5	5	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:110477163G>A	ENST00000378402.5	+	49	8206	c.8102G>A	c.(8101-8103)gGa>gAa	p.G2701E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2701					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAACCAATGGAGCGGTGATT	0.453										HNSCC(38;0.096)			52	96					0	0	0	0	A	110477163	G	A	110477163	3	1	118	1	0	0	0	0	1	0	0	0	12044	1174	41	2	8296	2	PKHD1L1	8	110477163	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	19435	110477163	35886859	167	22260											
CSMD3	114788	broad.mit.edu	37	chr8	113349777	113349777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttagaagcataccttcaCaccttggaagtggatgattc	13	11	9	8	0	1	2	1	1	0	1	2	4	1	4	2	2	2	2	2	2	5	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:113349777C>T	ENST00000297405.5	-	43	7080	c.6836G>A	c.(6835-6837)tGt>tAt	p.C2279Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.C2239Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2175Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.C2209Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2279	Sushi 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATACCTTCACACCTTGGAAG	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	41					0	0	0	0	T	113349777	C	T	113349777	3	4	118	1	0	0	0	0	1	0	0	0	3978	478	17	4	4403	4	CSMD3	8	113349777	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	2872614	113349777	33014245	168	22261											
CSMD3	114788	broad.mit.edu	37	chr8	113349855	113349855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatttccaattaatgtgtatCctgggaaacattcaaatgaa	16	13	6	6	0	1	1	1	1	0	0	3	2	3	2	2	1	1	1	2	1	7	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:113349855C>T	ENST00000297405.5	-	43	7002	c.6758G>A	c.(6757-6759)gGa>gAa	p.G2253E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2213E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2149E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2183E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2253	Sushi 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAATGTGTATCCTGGGAAACA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	81					0	0	0	0	T	113349855	C	T	113349855	3	4	118	1	0	0	0	0	1	0	0	0	3978	855	30	2	4481	2	CSMD3	8	113349855	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	78	113349855	33014167	169	22262											
CSMD3	114788	broad.mit.edu	37	chr8	113420613	113420613	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaaatcgaattgtgatctGattacctgaactcagtggaa	14	12	9	6	1	2	3	1	3	1	0	3	5	2	4	1	1	2	1	1	1	6	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:113420613G>A	ENST00000297405.5	-	34	5783	c.5539C>T	c.(5539-5541)Cag>Tag	p.Q1847*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q1807*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q1743*|CSMD3_ENST00000352409.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1847	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTGTGATCTGATTACCTGAA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			45	64					0	0	0	0	A	113420613	G	A	113420613	4	1	118	1	0	0	0	0	0	1	0	0	3978	1299	45	2	5736	2	CSMD3	8	113420613	Nonsense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	70758	113420613	32943409	170	22263											
ZNF572	137209	broad.mit.edu	37	chr8	125989609	125989609	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatatgaggaaagtttgggtCagaactgcaatgtgatagaa	16	10	12	3	0	1	4	1	2	0	2	1	5	1	5	0	2	2	2	0	2	7	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:125989609C>T	ENST00000319286.5	+	3	1253	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAGTTTGGGTCAGAACTGCAA	0.393										HNSCC(60;0.17)			12	57					0	0	0	0	T	125989609	C	T	125989609	4	4	118	1	0	0	0	0	0	1	0	0	18099	827	29	2	1105	2	ZNF572	8	125989609	Nonsense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	12568996	125989609	20374413	171	22264											
RECQL4	9401	broad.mit.edu	37	chr8	145742066	145742066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcaaaggaggggacaggcCctgtacctgggggctttggg	7	7	18	9	0	0	0	0	0	0	0	0	2	0	2	2	7	2	3	2	7	2	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:145742066C>A	ENST00000428558.2	-	5	478	c.437G>T	c.(436-438)gGg>gTg	p.G146V	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	146					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGGGACAGGCCCTGTACCTGG	0.642			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				14	29					0.146539	0.148558	1	0	A	145742066	C	A	145742066	3	1	118	1	0	0	0	0	1	0	0	0	13284	623	22	4	3258	4	RECQL4	8	145742066	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	19752457	145742066	621956	172	22265											
PTPRD	5789	broad.mit.edu	37	chr9	8633439	8633439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgagaactgatccagacCcatcgtcaaactctattacc	12	11	5	13	1	3	3	1	2	2	2	5	4	4	3	3	0	3	0	3	0	4	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:8633439C>A	ENST00000381196.4	-	11	773	c.230G>T	c.(229-231)gGg>gTg	p.G77V	PTPRD_ENST00000463477.1_Missense_Mutation_p.G77V|PTPRD_ENST00000486161.1_Missense_Mutation_p.G77V|PTPRD_ENST00000356435.5_Missense_Mutation_p.G77V|PTPRD_ENST00000355233.5_Missense_Mutation_p.G77V|PTPRD_ENST00000397606.3_Missense_Mutation_p.G77V|PTPRD_ENST00000397611.3_Missense_Mutation_p.G77V|PTPRD_ENST00000537002.1_Missense_Mutation_p.G77V|PTPRD_ENST00000397617.3_Missense_Mutation_p.G77V|PTPRD_ENST00000540109.1_Missense_Mutation_p.G77V|PTPRD_ENST00000360074.4_Missense_Mutation_p.G77V|PTPRD_ENST00000358503.5_Missense_Mutation_p.G77V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	77	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGATCCAGACCCATCGTCAAA	0.428										TSP Lung(15;0.13)			8	44					5.18039e-06	5.82992e-06	1	0	A	8633439	C	A	8633439	3	1	118	1	0	0	0	0	1	0	0	0	12881	623	22	4	5708	4	PTPRD	9	8633439	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08		8633439	132579992	173	22266											
ROR2	4920	broad.mit.edu	37	chr9	94488898	94488898	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcgccgctgcggtgtGgacgcagatgccttctgctt	4	11	14	12	4	1	1	0	0	1	1	2	2	1	2	2	2	4	4	2	2	0	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:94488898G>T	ENST00000375708.3	-	8	1509	c.1311C>A	c.(1309-1311)tcC>tcA	p.S437S	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.S297S	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	437					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			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						GCTGCGGTGTGGACGCAGATG	0.527													45	42					1.03325e-14	1.38772e-14	1	0	T	94488898	G	T	94488898	2	4	118	1	0	0	0	0	0	0	0	1	13612	1335	47	4		4	ROR2	9	94488898	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	85855459	94488898	46724533	174	22267											
ZNF462	58499	broad.mit.edu	37	chr9	109701312	109701312	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctccccaggccacggatCgtcagtctcctctcctcaca	7	8	6	20	2	4	0	2	0	2	0	8	1	5	1	6	2	0	0	6	2	0	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:109701312C>A	ENST00000277225.5	+	7	6640	c.6351C>A	c.(6349-6351)atC>atA	p.I2117I	ZNF462_ENST00000542028.1_Silent_p.I74I|ZNF462_ENST00000441147.2_Silent_p.I1023I|ZNF462_ENST00000457913.1_Silent_p.I2177I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2117					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GGCCACGGATCGTCAGTCTCC	0.547													150	263					1.23367e-73	1.78036e-73	1	0	A	109701312	C	A	109701312	2	1	118	1	0	0	0	0	0	0	0	1	18021	874	31	3		3	ZNF462	9	109701312	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	15212414	109701312	31512119	175	22268											
SVEP1	79987	broad.mit.edu	37	chr9	113276288	113276288	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacagtcttcaggggatgTgcttccaggtggagaggtgt	8	10	16	7	0	2	1	1	0	1	1	3	4	3	2	1	5	1	1	1	5	0	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:113276288T>C	ENST00000401783.2	-	4	1399	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.T355A|SVEP1_ENST00000374461.1_Missense_Mutation_p.T332A|SVEP1_ENST00000374469.1_Missense_Mutation_p.T332A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	355					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCAGGGGATGTGCTTCCAGGT	0.507													12	14					0	0	0	0	C	113276288	T	C	113276288	3	2	118	1	0	0	0	0	1	0	0	0	15510	1696	59	5	9832	5	SVEP1	9	113276288	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	3574976	113276288	27937143	176	22269											
FAM163B	642968	broad.mit.edu	37	chr9	136444284	136444284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacgctcttgtagagcaCgcgctccccgccgttcagca	6	8	10	17	5	3	1	2	0	1	1	4	1	4	1	3	0	2	7	3	0	1	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:136444284C>T	ENST00000496132.1	-	3	605	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	FAM163B_ENST00000356873.3_Missense_Mutation_p.V121M			P0C2L3	F163B_HUMAN	family with sequence similarity 163, member B	121						integral to membrane				large_intestine(1)	1						TTGTAGAGCACGCGCTCCCCG	0.716													6	20					0	0	0	0	T	136444284	C	T	136444284	3	4	118	1	0	0	0	0	1	0	0	0	5518	536	19	1	142	1	FAM163B	9	136444284	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	23167996	136444284	4769147	177	22270											
DIP2C	22982	broad.mit.edu	37	chr10	429979	429979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttacaggggttcgcgcCgtccgccactatcagcattc	7	10	9	15	4	2	0	2	0	0	0	5	0	3	0	3	2	2	2	3	2	2	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:429979C>T	ENST00000280886.6	-	16	1951	c.1864G>A	c.(1864-1866)Ggc>Agc	p.G622S	DIP2C_ENST00000381496.3_Missense_Mutation_p.G515S	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	622			G -> S (in a colorectal cancer sample; somatic mutation).			nucleus	catalytic activity|transcription factor binding	p.G622S(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGTTCGCGCCGTCCGCCACT	0.527													18	43					0	0	0	0	T	429979	C	T	429979	3	4	118	1	0	0	0	0	1	0	0	0	4566	652	23	1	2894	1	DIP2C	10	429979	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08		429979	135104768	178	22271											
DIP2C	22982	broad.mit.edu	37	chr10	429991	429991	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgcgccgtccgccactaTcagcattcgcagagaggaga	9	7	12	13	5	1	2	1	0	0	2	4	4	2	2	3	1	1	3	3	1	1	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:429991T>A	ENST00000280886.6	-	16	1939	c.1852A>T	c.(1852-1854)Ata>Tta	p.I618L	DIP2C_ENST00000381496.3_Missense_Mutation_p.I511L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	618						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCCGCCACTATCAGCATTCGC	0.507													17	49					0	0	0	0	A	429991	T	A	429991	3	1	118	1	0	0	0	0	1	0	0	0	4566	1435	50	5	2906	5	DIP2C	10	429991	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	12	429991	135104756	179	22272											
ITGA8	8516	broad.mit.edu	37	chr10	15655689	15655689	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatagagtctggaaccTggcaagttttattttcaaga	12	14	9	6	0	3	2	2	0	1	2	3	3	3	3	1	2	1	2	1	2	5	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:15655689T>A	ENST00000378076.3	-	15	1876	c.1523A>T	c.(1522-1524)cAg>cTg	p.Q508L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	508					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTCTGGAACCTGGCAAGTTTT	0.458													41	173					0	0	0	0	A	15655689	T	A	15655689	3	1	118	1	0	0	0	0	1	0	0	0	7935	1580	55	5	1732	5	ITGA8	10	15655689	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	15225698	15655689	119879058	180	22273											
NEBL	10529	broad.mit.edu	37	chr10	21108395	21108395	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcactctctctatctcCggggtcatgcttaccggagt	5	12	9	15	3	5	0	2	0	3	0	7	1	5	1	3	3	2	1	3	3	2	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:21108395C>T	ENST00000377122.4	-	20	2409	c.2013G>A	c.(2011-2013)ccG>ccA	p.P671P	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	671					regulation of actin filament length		actin binding|structural constituent of muscle	p.P671P(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCTCTATCTCCGGGGTCATGC	0.413													88	141					0	0	0	0	T	21108395	C	T	21108395	2	4	118	1	0	0	0	0	0	0	0	1	10373	639	23	1		1	NEBL	10	21108395	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	5452706	21108395	114426352	181	22274											
DNAJC1	64215	broad.mit.edu	37	chr10	22055238	22055238	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcttggctttggttgtcaCctgtttcaaaacataaaagc	10	15	8	8	0	2	0	2	0	0	0	2	0	2	0	1	2	3	4	1	2	4	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:22055238C>A	ENST00000376980.3	-	10	1389	c.1098_splice	c.e10-1	p.V367_splice	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	367	SANT 1.				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TTGGTTGTCACCTGTTTCAAA	0.383													43	77					2.35958e-20	3.27671e-20	1	0	A	22055238	C	A	22055238	5	1	118	1	0	0	0	0	0	0	1	0	4664	521	18	4	577	4	DNAJC1	10	22055238	Splice_Site	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	946843	22055238	113479509	182	22275											
C10orf53	282966	broad.mit.edu	37	chr10	50902583	50902583	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caattatatctgtttccctaGgaggcgatggtaaactagac	12	12	9	8	1	1	1	0	0	1	1	2	3	2	2	1	3	1	2	1	3	7	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:50902583G>T	ENST00000374111.3	+	3	229		c.e3-1		C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374113.3_3'UTR	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53											endometrium(1)|lung(6)	7		all_neural(218;0.107)				TGTTTCCCTAGGAGGCGATGG	0.438													18	36					1.01871e-10	1.28386e-10	1	0	T	50902583	G	T	50902583	5	4	118	1	0	0	0	0	0	0	1	0	1616	1014	35	4	227	4	C10orf53	10	50902583	Splice_Site	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	28847345	50902583	84632164	183	22276											
PCDH15	65217	broad.mit.edu	37	chr10	55944968	55944968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcgagtaataccagtctGtgtgacggtgaagactgagg	11	9	15	6	2	1	4	0	3	1	1	1	5	1	4	1	2	2	2	1	2	4	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:55944968G>T	ENST00000373965.2	-	13	1781	c.1387C>A	c.(1387-1389)Cag>Aag	p.Q463K	PCDH15_ENST00000320301.6_Missense_Mutation_p.Q456K|PCDH15_ENST00000373955.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q463K|PCDH15_ENST00000361849.3_Missense_Mutation_p.Q456K|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q434K|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q434K|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q419K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000414778.1_Missense_Mutation_p.Q461K|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.Q67K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	456	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATACCAGTCTGTGTGACGGTG	0.393										HNSCC(58;0.16)			15	44					1.3612e-06	1.57029e-06	1	0	T	55944968	G	T	55944968	3	4	118	1	0	0	0	0	1	0	0	0	11582	1386	48	4	6208	4	PCDH15	10	55944968	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	5042385	55944968	79589779	184	22277											
RUFY2	55680	broad.mit.edu	37	chr10	70164458	70164458	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtttcaggcaatgttccaTaacaacaaagaattgctgca	14	11	8	8	0	1	1	1	0	0	1	2	1	2	1	1	1	4	5	1	1	5	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:70164458T>A	ENST00000388768.2	-	2	579	c.253A>T	c.(253-255)Atg>Ttg	p.M85L	RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000602465.1_Missense_Mutation_p.M50L|RUFY2_ENST00000342616.4_Missense_Mutation_p.M50L|RUFY2_ENST00000399200.2_Missense_Mutation_p.M50L|RUFY2_ENST00000472394.2_5'UTR	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	99						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						CAATGTTCCATAACAACAAAG	0.388													14	47					0	0	0	0	A	70164458	T	A	70164458	3	1	118	1	0	0	0	0	1	0	0	0	13824	1406	49	5	1853	5	RUFY2	10	70164458	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	14219490	70164458	65370289	185	22278											
CC2D2B	387707	broad.mit.edu	37	chr10	97769595	97769595	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcataggatcactgtctcaAgagctgtagtggtcactcat	10	13	9	9	0	5	1	5	0	1	1	6	2	5	2	0	2	1	2	0	2	3	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:97769595A>G	ENST00000371198.2	+	12	1348	c.308A>G	c.(307-309)aAg>aGg	p.K103R	CC2D2B_ENST00000410012.2_Missense_Mutation_p.K12R|CC2D2B_ENST00000344386.3_Missense_Mutation_p.K12R|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR			Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	12										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CACTGTCTCAAGAGCTGTAGT	0.308													15	51					0	0	0	0	G	97769595	A	G	97769595	3	3	118	1	0	0	0	0	1	0	0	0	2754	72	3	5	41	5	CC2D2B	10	97769595	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	27605137	97769595	37765152	186	22279											
DNMBP	23268	broad.mit.edu	37	chr10	101716099	101716099	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccctcctgcggtgtcctCgtcctgataagagtttctgt	4	13	12	12	2	1	2	0	1	1	1	5	2	4	2	4	2	1	1	4	2	1	2	rs146369620		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:101716099C>A	ENST00000342239.3	-	4	1223	c.1132G>T	c.(1132-1134)Gag>Tag	p.E378*	DNMBP_ENST00000324109.4_Nonsense_Mutation_p.E378*|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	378					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCGGTGTCCTCGTCCTGATAA	0.552													19	71					7.45023e-12	9.61994e-12	1	0	A	101716099	C	A	101716099	4	1	118	1	0	0	0	0	0	1	0	0	4710	893	31	3	3657	3	DNMBP	10	101716099	Nonsense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	3946504	101716099	33818648	187	22280											
CNNM2	54805	broad.mit.edu	37	chr10	104831530	104831530	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttttctccatttttcaGttcctttgtccctgtctcgt	2	22	5	12	1	3	0	1	0	2	0	7	0	5	0	3	0	0	2	3	0	0	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:104831530G>C	ENST00000369878.3	+	6	2291		c.e6-1		CNNM2_ENST00000457502.2_Splice_Site|CNNM2_ENST00000475511.1_Intron|CNNM2_ENST00000433628.2_Intron	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2						ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCATTTTTCAGTTCCTTTGTC	0.433													31	86					0	0	0	0	C	104831530	G	C	104831530	5	2	118	1	0	0	0	0	0	0	1	0	3643	1043	36	4	2231	4	CNNM2	10	104831530	Splice_Site	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	3115431	104831530	30703217	188	22281											
DUSP5	1847	broad.mit.edu	37	chr10	112266724	112266724	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaatccttcccttcctctAccttggaagtgcctaccatg	8	13	6	14	0	1	1	0	1	1	0	4	2	4	2	6	1	3	0	6	1	4	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:112266724A>G	ENST00000369583.3	+	3	844	c.560A>G	c.(559-561)tAc>tGc	p.Y187C	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	187	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CCCTTCCTCTACCTTGGAAGT	0.527													83	232					0	0	0	0	G	112266724	A	G	112266724	3	3	118	1	0	0	0	0	1	0	0	0	4864	391	14	5	570	5	DUSP5	10	112266724	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	7435194	112266724	23268023	189	22282											
GPR123	84435	broad.mit.edu	37	chr10	134884646	134884646	+	Frame_Shift_Del	DEL	G	G	-																															tcatcaacgtcagctttcccGgagcaaaggtgctgctggga																										TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:134884646delG	ENST00000607359.1	+	1	214	c.214delG	c.(214-216)gafs	p.G72fs				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CAGCTTTCCCGGAGCAAAGGT	0.652													3	5	---	---	---	---					-	134884646	G	-	134884646	7	5	118	1	0	1	0	1	0	0	0	0	6686	1131	39	0		0	GPR123	10	134884646	Frame_Shift_Del	DEL	G	TCGA-CN-A63T-01A-11D-A28R-08	22617922	134884646	650101	190	22283											
TUBGCP2	10844	broad.mit.edu	37	chr10	135095776	135095776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcggcccctgcgggcagcCccaggacggtgctgtgctcc	3	6	14	18	3	0	0	0	0	0	0	2	1	1	1	6	4	4	3	6	4	0	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:135095776C>A	ENST00000368563.2	-	16	2716	c.2360G>T	c.(2359-2361)gGg>gTg	p.G787V	TUBGCP2_ENST00000252936.3_Missense_Mutation_p.G787V|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.G657V|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.G380V|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.G815V	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	787					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGCGGGCAGCCCCAGGACGGT	0.647													9	20					3.09899e-07	3.64354e-07	1	0	A	135095776	C	A	135095776	3	1	118	1	0	0	0	0	1	0	0	0	16862	623	22	4	360	4	TUBGCP2	10	135095776	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	211130	135095776	438971	191	22284											
OR51G2	81282	broad.mit.edu	37	chr11	4936857	4936857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggaaggtagcagaaaCgctgctgctgctgtttccca	10	8	12	11	1	0	1	0	0	0	1	1	2	1	2	1	2	6	8	1	2	3	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:4936857C>T	ENST00000322013.3	-	1	65	c.37G>A	c.(37-39)Gtt>Att	p.V13I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTAGCAGAAACGCTGCTGCTG	0.557													49	44					0	0	0	0	T	4936857	C	T	4936857	3	4	118	1	0	0	0	0	1	0	0	0	11170	536	19	1	911	1	OR51G2	11	4936857	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08		4936857	130069659	192	22285											
ANO5	203859	broad.mit.edu	37	chr11	22257772	22257772	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaaaaggtttgggattGaaagactgctaaactctaac	16	9	11	5	0	1	3	0	1	1	2	1	5	1	5	0	3	3	2	0	3	7	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:22257772G>T	ENST00000324559.8	+	8	1029	c.712G>T	c.(712-714)Gaa>Taa	p.E238*		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	238						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTTGGGATTGAAAGACTGCT	0.388													10	46					3.86212e-05	4.21739e-05	1	0	T	22257772	G	T	22257772	4	4	118	1	0	0	0	0	0	1	0	0	699	1291	45	2	742	2	ANO5	11	22257772	Nonsense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	17320915	22257772	112748744	193	22286											
OR4A16	81327	broad.mit.edu	37	chr11	55110791	55110791	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatacattgtgacaatggtgGgaaacctcctcatttgggtg	10	13	11	7	0	1	1	1	1	0	0	2	2	2	2	2	3	2	0	2	3	4	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:55110791G>T	ENST00000314721.2	+	1	165	c.115G>T	c.(115-117)Gga>Tga	p.G39*		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G39R(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GACAATGGTGGGAAACCTCCT	0.418													28	61					7.26314e-15	9.79061e-15	1	0	T	55110791	G	T	55110791	4	4	118	1	0	0	0	0	0	1	0	0	11112	1233	43	4	117	4	OR4A16	11	55110791	Nonsense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	32853019	55110791	79895725	194	22287											
OR4C6	219432	broad.mit.edu	37	chr11	55433060	55433060	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgagtccacgggtgtgcTgcctaatggtaggaggggct	7	10	16	8	1	1	1	1	1	0	0	2	2	2	2	2	5	2	3	2	5	2	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:55433060T>A	ENST00000314259.3	+	1	447	c.418T>A	c.(418-420)Tgc>Agc	p.C140S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACGGGTGTGCTGCCTAATGGT	0.507													11	83					0	0	0	0	A	55433060	T	A	55433060	3	1	118	1	0	0	0	0	1	0	0	0	11123	1580	55	5	420	5	OR4C6	11	55433060	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	322269	55433060	79573456	195	22288											
OR5W2	390148	broad.mit.edu	37	chr11	55681847	55681847	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgcagtagaatagcagAgatcacagaaagacagatga	18	6	11	6	0	1	6	1	1	0	5	1	7	1	6	0	0	2	4	0	0	4	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:55681847A>C	ENST00000344514.1	-	1	211	c.212T>G	c.(211-213)cTc>cGc	p.L71R		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAATAGCAGAGATCACAGAA	0.408													22	38					0	0	0	0	C	55681847	A	C	55681847	3	2	118	1	0	0	0	0	1	0	0	0	11256	304	11	5	722	5	OR5W2	11	55681847	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	248787	55681847	79324669	196	22289											
OR5AS1	219447	broad.mit.edu	37	chr11	55798181	55798181	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaaagcatctctccttatgGgtgtgcactacaaatgtttt	11	14	8	8	0	1	0	0	0	1	0	3	1	2	0	1	1	3	3	1	1	5	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:55798181G>C	ENST00000313555.1	+	1	287	c.287G>C	c.(286-288)gGg>gCg	p.G96A		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCTCCTTATGGGTGTGCACTA	0.448													9	26					0	0	0	0	C	55798181	G	C	55798181	3	2	118	1	0	0	0	0	1	0	0	0	11217	1232	43	4	289	4	OR5AS1	11	55798181	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	116334	55798181	79208335	197	22290											
OR5T3	390154	broad.mit.edu	37	chr11	56019812	56019812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccatgtttatattgacagGcttcacagatgattttgagc	11	14	8	8	0	1	4	1	3	0	1	1	4	1	4	1	1	1	2	1	1	2	7			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:56019812G>T	ENST00000303059.3	+	1	137	c.137G>T	c.(136-138)gGc>gTc	p.G46V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATATTGACAGGCTTCACAGAT	0.373													4	49					0.000602214	0.000644229	1	0	T	56019812	G	T	56019812	3	4	118	1	0	0	0	0	1	0	0	0	11254	1203	42	4	139	4	OR5T3	11	56019812	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	221631	56019812	78986704	198	22291											
OR8J1	219477	broad.mit.edu	37	chr11	56127818	56127818	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctcttcctggtctttctGgtgctctatgggctgaccat	3	15	9	14	0	4	1	0	1	4	0	5	1	5	1	4	3	1	2	4	3	1	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:56127818G>C	ENST00000303039.3	+	1	128	c.96G>C	c.(94-96)ctG>ctC	p.L32L		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGGTCTTTCTGGTGCTCTATG	0.502													11	82					0	0	0	0	C	56127818	G	C	56127818	2	2	118	1	0	0	0	0	0	0	0	1	11312	1335	47	4		4	OR8J1	11	56127818	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	108006	56127818	78878698	199	22292											
OR5R1	219479	broad.mit.edu	37	chr11	56185277	56185277	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatatatggaactgccacCagttgaatgcagactcttct	12	13	7	9	0	2	2	0	1	2	1	2	3	2	3	2	1	3	2	2	1	6	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:56185277C>A	ENST00000312253.1	-	1	431	c.432G>T	c.(430-432)ctG>ctT	p.L144L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GAACTGCCACCAGTTGAATGC	0.453													15	85					1.49906e-05	1.66161e-05	1	0	A	56185277	C	A	56185277	2	1	118	1	0	0	0	0	0	0	0	1	11251	581	21	4		4	OR5R1	11	56185277	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	57459	56185277	78821239	200	22293											
OR5M11	219487	broad.mit.edu	37	chr11	56310049	56310049	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgccttccctctgctgAtttgatccggaggatggcag	5	13	12	11	1	1	2	0	2	1	0	3	4	3	4	3	3	2	2	3	3	0	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:56310049A>C	ENST00000528616.2	-	1	708	c.685T>G	c.(685-687)Tca>Gca	p.S229A		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CCCTCTGCTGATTTGATCCGG	0.502													10	41					0	0	0	0	C	56310049	A	C	56310049	3	2	118	1	0	0	0	0	1	0	0	0	11245	333	12	5	235	5	OR5M11	11	56310049	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	124772	56310049	78696467	201	22294											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076224	57076224	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctgggtcacaggtcacctCcaaatccctcaggcccagat	9	8	9	15	0	4	1	3	0	1	1	6	1	6	1	4	3	0	0	4	3	1	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:57076224C>A	ENST00000532437.1	-	5	4272	c.3961G>T	c.(3961-3963)Gag>Tag	p.E1321*	TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.E1321*			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1321	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CAGGTCACCTCCAAATCCCTC	0.607													47	283					3.50607e-19	4.8143e-19	1	0	A	57076224	C	A	57076224	4	1	118	1	0	0	0	0	0	1	0	0	16414	864	30	2	1252	2	TNKS1BP1	11	57076224	Nonsense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	766175	57076224	77930292	202	22295											
CTNND1	1500	broad.mit.edu	37	chr11	57563202	57563202	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcggcgcacagagaccacgGtaaactaagacgtgtgtaag	13	6	12	10	4	0	2	0	0	0	2	1	3	0	2	1	2	1	3	1	2	4	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:57563202G>T	ENST00000524630.1	+	5	933		c.e5+1		CTNND1_ENST00000358694.6_Splice_Site|CTNND1_ENST00000532649.1_Splice_Site|CTNND1_ENST00000532787.1_Splice_Site|CTNND1_ENST00000360682.6_Splice_Site|CTNND1_ENST00000415361.2_Splice_Site|CTNND1_ENST00000361391.6_Splice_Site|CTNND1_ENST00000530094.1_Splice_Site|CTNND1_ENST00000399039.4_Splice_Site|CTNND1_ENST00000532463.1_Splice_Site|CTNND1_ENST00000361796.4_Splice_Site|CTNND1_ENST00000428599.2_Splice_Site|CTNND1_ENST00000526938.1_Splice_Site|CTNND1_ENST00000528621.1_Splice_Site|CTNND1_ENST00000529873.1_Splice_Site|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000532844.1_Splice_Site|CTNND1_ENST00000529526.1_Splice_Site|CTNND1_ENST00000426142.2_Splice_Site|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000399050.4_Splice_Site|CTNND1_ENST00000530748.1_Splice_Site|CTNND1_ENST00000529986.1_Splice_Site|CTNND1_ENST00000529919.1_Splice_Site|CTNND1_ENST00000534579.1_Splice_Site|CTNND1_ENST00000532245.1_Splice_Site|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000526357.1_Splice_Site|CTNND1_ENST00000528232.1_Splice_Site|CTNND1_ENST00000361332.4_Splice_Site|CTNND1_ENST00000533667.1_Intron			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1						adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGAGACCACGGTAAACTAAGA	0.493													3	13					0.115264	0.117174	1	0	T	57563202	G	T	57563202	5	4	118	1	0	0	0	0	0	0	1	0	4051	1275	44	4	431	4	CTNND1	11	57563202	Splice_Site	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	486978	57563202	77443314	203	22296											
OR5B2	390190	broad.mit.edu	37	chr11	58189874	58189874	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgttcctcaggctgtaGaccacagggttcagcatggg	7	11	12	11	0	3	1	2	0	1	1	5	1	4	1	2	3	1	5	2	3	1	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:58189874G>T	ENST00000302581.2	-	1	912	c.861C>A	c.(859-861)gtC>gtA	p.V287V		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCAGGCTGTAGACCACAGGGT	0.423													18	50					2.4624e-09	3.02054e-09	1	0	T	58189874	G	T	58189874	2	4	118	1	0	0	0	0	0	0	0	1	11221	929	33	2		2	OR5B2	11	58189874	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	626672	58189874	76816642	204	22297											
DPP3	10072	broad.mit.edu	37	chr11	66262881	66262881	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctgggatagcaagttcAgcaccatcgcctccagctac	11	7	9	14	1	1	1	1	0	0	1	3	2	2	2	4	1	4	4	4	1	3	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:66262881A>T	ENST00000532677.1	+	14	1956	c.1555A>T	c.(1555-1557)Agc>Tgc	p.S519C	DPP3_ENST00000530165.1_Missense_Mutation_p.S470C|DPP3_ENST00000360510.2_Missense_Mutation_p.S500C|DPP3_ENST00000531863.1_Missense_Mutation_p.S520C|DPP3_ENST00000453114.1_Missense_Mutation_p.S500C|DPP3_ENST00000541961.1_Missense_Mutation_p.S500C|DPP3_ENST00000533799.1_3'UTR	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	500					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TAGCAAGTTCAGCACCATCGC	0.617													6	21					0	0	0	0	T	66262881	A	T	66262881	3	4	118	1	0	0	0	0	1	0	0	0	4764	188	7	5	1548	5	DPP3	11	66262881	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	8073007	66262881	68743635	205	22298											
FAT3	120114	broad.mit.edu	37	chr11	92533682	92533682	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttttcacaaagcacataCgtagctgaggtgagagagaa	14	8	11	8	1	1	3	1	2	0	2	1	5	1	3	1	1	3	3	1	1	4	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:92533682C>T	ENST00000298047.6	+	9	7520	c.7503C>T	c.(7501-7503)taC>taT	p.Y2501Y	FAT3_ENST00000525166.1_Silent_p.Y2351Y|FAT3_ENST00000409404.2_Silent_p.Y2501Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2501	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAAGCACATACGTAGCTGAGG	0.498										TCGA Ovarian(4;0.039)			7	27					0	0	0	0	T	92533682	C	T	92533682	2	4	118	1	0	0	0	0	0	0	0	1	5736	547	19	1		1	FAT3	11	92533682	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	26270801	92533682	42472834	206	22299											
CNTN5	53942	broad.mit.edu	37	chr11	100126551	100126551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccgaaagtacggccacaCtgtcctggagcccagcagct	11	6	10	14	2	0	0	0	0	0	0	1	2	1	1	4	2	5	3	4	2	3	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:100126551C>T	ENST00000524871.1	+	17	2355	c.2065C>T	c.(2065-2067)Ctg>Ttg	p.L689L	CNTN5_ENST00000418526.2_Silent_p.L615L|CNTN5_ENST00000528682.1_Silent_p.L689L|CNTN5_ENST00000527185.1_Silent_p.L689L|CNTN5_ENST00000279463.3_Silent_p.L689L|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	689	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TACGGCCACACTGTCCTGGAG	0.502													10	94					0	0	0	0	T	100126551	C	T	100126551	2	4	118	1	0	0	0	0	0	0	0	1	3674	564	20	4		4	CNTN5	11	100126551	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	7592869	100126551	34879965	207	22300											
GUCY1A2	2977	broad.mit.edu	37	chr11	106680815	106680815	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtacactgggcacatatGgctgtgaagccaacaatgtc	12	8	12	9	0	0	1	0	1	0	0	1	2	0	2	1	3	3	3	1	3	5	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:106680815G>T	ENST00000526355.1	-	5	2064	c.1596C>A	c.(1594-1596)gcC>gcA	p.A532A	GUCY1A2_ENST00000347596.2_Silent_p.A553A|GUCY1A2_ENST00000282249.2_Silent_p.A532A	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	532	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GGGCACATATGGCTGTGAAGC	0.443													8	49					5.18039e-06	5.82992e-06	1	0	T	106680815	G	T	106680815	2	4	118	1	0	0	0	0	0	0	0	1	6943	1335	47	4		4	GUCY1A2	11	106680815	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	6554264	106680815	28325701	208	22301											
DDX25	29118	broad.mit.edu	37	chr11	125791159	125791159	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagaggagccggactaTgagacctacctccaccgcat	12	5	11	13	2	0	2	0	1	0	2	1	6	1	4	5	3	2	1	5	3	3	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:125791159T>C	ENST00000263576.6	+	11	1430	c.1275T>C	c.(1273-1275)taT>taC	p.Y425Y	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	425	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		AGCCGGACTATGAGACCTACC	0.493													10	13					0	0	0	0	C	125791159	T	C	125791159	2	2	118	1	0	0	0	0	0	0	0	1	4384	1471	51	5		5	DDX25	11	125791159	Silent	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	19110344	125791159	9215357	209	22302											
ADAMTS8	11095	broad.mit.edu	37	chr11	130297717	130297717	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagggggcgggctccggcGggaccccagcgctgcaggcg	4	2	22	13	5	0	0	0	0	0	0	1	2	1	2	3	7	2	3	3	7	0	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:130297717G>C	ENST00000257359.6	-	1	1171	c.465C>G	c.(463-465)ccC>ccG	p.P155P		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	155					negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGCTCCGGCGGGACCCCAGC	0.731													3	3					0	0	0	0	C	130297717	G	C	130297717	2	2	118	1	0	0	0	0	0	0	0	1	272	1103	39	3		3	ADAMTS8	11	130297717	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	4506558	130297717	4708799	210	22303											
IGSF9B	22997	broad.mit.edu	37	chr11	133801614	133801614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagtgttgtaaggcacacagGtataagtgccaagagcctcc	12	8	12	9	0	0	1	0	0	0	1	1	2	1	1	3	2	2	4	3	2	4	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:133801614G>T	ENST00000321016.8	-	9	1417	c.1187C>A	c.(1186-1188)aCc>aAc	p.T396N	IGSF9B_ENST00000533871.2_Missense_Mutation_p.T396N			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	396	Ig-like 4.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGCACACAGGTATAAGTGCC	0.592													11	18					3.07112e-06	3.48818e-06	1	0	T	133801614	G	T	133801614	3	4	118	1	0	0	0	0	1	0	0	0	7659	1261	44	4	2906	4	IGSF9B	11	133801614	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	3503897	133801614	1204902	211	22304											
KCNA6	3742	broad.mit.edu	37	chr12	4919582	4919582	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggagatccgcttctaccaGctgggggacgaggccctggc	7	6	16	12	2	1	1	0	0	1	1	2	5	2	2	3	5	2	2	3	5	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:4919582G>C	ENST00000433855.1	+	1	1241	c.375G>C	c.(373-375)caG>caC	p.Q125H	KCNA6_ENST00000280684.3_Missense_Mutation_p.Q125H	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	125						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GCTTCTACCAGCTGGGGGACG	0.687										HNSCC(72;0.22)			28	87					0	0	0	0	C	4919582	G	C	4919582	3	2	118	1	0	0	0	0	1	0	0	0	8060	962	34	4	377	4	KCNA6	12	4919582	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08		4919582	128932313	212	22305											
LAG3	3902	broad.mit.edu	37	chr12	6883837	6883837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttcagccgccctgaccgCccagcctctgtgcattggtt	4	11	9	17	2	2	1	1	1	1	0	3	1	3	1	6	1	3	2	6	1	0	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:6883837C>T	ENST00000203629.2	+	4	921	c.588C>T	c.(586-588)cgC>cgT	p.R196R	LAG3_ENST00000441671.2_Silent_p.R196R	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	196	Ig-like C2-type 1.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCCCTGACCGCCCAGCCTCTG	0.617													5	85					0	0	0	0	T	6883837	C	T	6883837	2	4	118	1	0	0	0	0	0	0	0	1	8653	726	26	4		4	LAG3	12	6883837	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1964255	6883837	126968058	213	22306											
LRP6	4040	broad.mit.edu	37	chr12	12337019	12337019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaaatgggaacaaccccCattgtcaattccacatggat	15	8	6	12	0	1	0	1	0	0	0	2	2	2	2	3	2	2	0	3	2	4	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:12337019C>A	ENST00000261349.4	-	5	947	c.871G>T	c.(871-873)Ggg>Tgg	p.G291W	LRP6_ENST00000543091.1_Missense_Mutation_p.G291W	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	291	EGF-like 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GAACAACCCCCATTGTCAATT	0.393													18	42					2.4624e-09	3.02054e-09	1	0	A	12337019	C	A	12337019	3	1	118	1	0	0	0	0	1	0	0	0	9026	594	21	4	4046	4	LRP6	12	12337019	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	5453182	12337019	121514876	214	22307											
KRT82	3888	broad.mit.edu	37	chr12	52797605	52797605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatatagccctcgaagatgGgctcgatgttggtctggcag	8	11	14	8	2	1	2	0	1	1	1	3	4	1	2	1	3	1	3	1	3	3	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:52797605G>T	ENST00000257974.2	-	2	577	c.500C>A	c.(499-501)cCc>cAc	p.P167H		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	167	Coil 1B.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTCGAAGATGGGCTCGATGTT	0.602													23	70					2.21704e-12	2.89315e-12	1	0	T	52797605	G	T	52797605	3	4	118	1	0	0	0	0	1	0	0	0	8548	1232	43	4	1073	4	KRT82	12	52797605	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	40460586	52797605	81054290	215	22308											
NCKAP1L	3071	broad.mit.edu	37	chr12	54925051	54925051	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aactctgttccagagatgcgGgccttggcagaactcctggg	8	9	13	11	1	1	2	0	0	1	2	3	3	3	2	3	3	3	2	3	3	2	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:54925051G>A	ENST00000293373.6	+	23	2593	c.2514G>A	c.(2512-2514)cgG>cgA	p.R838R	NCKAP1L_ENST00000545638.2_Silent_p.R788R	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	838					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CAGAGATGCGGGCCTTGGCAG	0.473													32	95					0	0	0	0	A	54925051	G	A	54925051	2	1	118	1	0	0	0	0	0	0	0	1	10292	1219	43	4		4	NCKAP1L	12	54925051	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	2127446	54925051	78926844	216	22309											
MYF5	4617	broad.mit.edu	37	chr12	81112190	81112190	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtacttttgacagcatCtactgtcctgatgtatcaaa	12	13	7	9	0	2	2	1	2	1	0	3	2	3	2	1	0	4	4	1	0	4	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:81112190C>A	ENST00000228644.3	+	2	707	c.555C>A	c.(553-555)atC>atA	p.I185I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	185					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TTGACAGCATCTACTGTCCTG	0.388													25	104					1.66031e-10	2.0853e-10	1	0	A	81112190	C	A	81112190	2	1	118	1	0	0	0	0	0	0	0	1	10097	903	32	2		2	MYF5	12	81112190	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	26187139	81112190	52739705	217	22310											
ASCL1	429	broad.mit.edu	37	chr12	103352481	103352481	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacggcgcggccaacaagaaGatgagtaaggtggagacact	15	4	14	8	3	0	4	0	1	0	3	0	5	0	4	1	4	2	1	1	4	5	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:103352481G>C	ENST00000266744.3	+	1	1018	c.459G>C	c.(457-459)aaG>aaC	p.K153N		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	153	Helix-loop-helix motif.				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						CCAACAAGAAGATGAGTAAGG	0.667													9	38					0	0	0	0	C	103352481	G	C	103352481	3	2	118	1	0	0	0	0	1	0	0	0	1038	933	33	2	461	2	ASCL1	12	103352481	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	22240291	103352481	30499414	218	22311											
EP400	57634	broad.mit.edu	37	chr12	132445398	132445398	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacatcaccctgcagagCgtgggccctgtcgtcggggg	6	7	16	12	3	1	2	1	1	0	1	3	2	1	2	2	3	3	1	2	3	1	0	rs141965996	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:132445398C>T	ENST00000333577.4	+	2	343	c.234C>T	c.(232-234)agC>agT	p.S78S	EP400_ENST00000332482.4_Silent_p.S78S|EP400_ENST00000330386.6_Silent_p.S78S|EP400_ENST00000389562.2_Silent_p.S78S|EP400_ENST00000389561.2_Silent_p.S78S			Q96L91	EP400_HUMAN	E1A binding protein p400	78					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCTGCAGAGCGTGGGCCCTG	0.632													19	106					0	0	0	0	T	132445398	C	T	132445398	2	4	118	1	0	0	0	0	0	0	0	1	5187	767	27	1		1	EP400	12	132445398	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	29092917	132445398	1406497	219	22312											
BRCA2	675	broad.mit.edu	37	chr13	32910544	32910544	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aataatacagtaatctctcaGgatcttgattataaagaagc	17	12	6	6	0	3	2	1	1	2	1	4	3	3	3	0	1	2	1	0	1	8	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr13:32910544G>A	ENST00000544455.1	+	11	2279	c.2052G>A	c.(2050-2052)caG>caA	p.Q684Q	BRCA2_ENST00000380152.3_Silent_p.Q684Q	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	684	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAATCTCTCAGGATCTTGATT	0.353			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			12	16					0	0	0	0	A	32910544	G	A	32910544	2	1	118	1	0	0	0	0	0	0	0	1	1507	991	35	4		4	BRCA2	13	32910544	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08		32910544	82259334	220	22313											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37679084	37679084	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtgaaccttcttgaacAgaaattaaagaggtcttcga	14	11	9	7	1	2	4	0	2	2	2	3	5	2	4	1	2	2	0	1	2	5	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr13:37679084A>G	ENST00000379800.3	-	1	719	c.310T>C	c.(310-312)Tgt>Cgt	p.C104R		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	104	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CTTCTTGAACAGAAATTAAAG	0.443													21	31					0	0	0	0	G	37679084	A	G	37679084	3	3	118	1	0	0	0	0	1	0	0	0	3983	188	7	5	707	5	CSNK1A1L	13	37679084	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	4768540	37679084	77490794	221	22314											
SCEL	8796	broad.mit.edu	37	chr13	78167687	78167687	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgtcaaagtggccacttCacttcagagaagtgacaaag	14	8	9	10	1	3	2	3	1	0	1	4	3	3	2	1	1	0	0	1	1	3	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr13:78167687C>A	ENST00000535157.1	+	11	835	c.665C>A	c.(664-666)tCa>tAa	p.S222*	SCEL_ENST00000349847.3_Nonsense_Mutation_p.S244*|SCEL_ENST00000377246.3_Intron	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	244					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GTGGCCACTTCACTTCAGAGA	0.383													4	31					2.56e-06	2.91666e-06	1	0	A	78167687	C	A	78167687	4	1	118	1	0	0	0	0	0	1	0	0	13974	838	29	2	773	2	SCEL	13	78167687	Nonsense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	40488603	78167687	37002191	222	22315											
OR4Q3	441669	broad.mit.edu	37	chr14	20216002	20216002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaccttacagtcatgaaccCccagctatgcctttggttgg	8	12	8	13	0	1	1	1	1	0	0	1	1	1	1	4	2	5	2	4	2	4	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:20216002C>A	ENST00000331723.1	+	1	416	c.416C>A	c.(415-417)cCc>cAc	p.P139H		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCATGAACCCCCAGCTATGC	0.502													10	61					5.50884e-06	6.16186e-06	1	0	A	20216002	C	A	20216002	3	1	118	1	0	0	0	0	1	0	0	0	11152	623	22	4	418	4	OR4Q3	14	20216002	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08		20216002	87133538	223	22316											
TEP1	7011	broad.mit.edu	37	chr14	20836999	20836999	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catagcttaacatctctgtcCttcgaagctgtcaccagcaa	11	11	6	13	1	2	0	1	0	1	0	5	1	3	0	2	0	4	3	2	0	4	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:20836999C>T	ENST00000262715.5	-	54	7759	c.7719G>A	c.(7717-7719)aaG>aaA	p.K2573K	TEP1_ENST00000556935.1_Silent_p.K2465K	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2573					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CATCTCTGTCCTTCGAAGCTG	0.527													14	34					0	0	0	0	T	20836999	C	T	20836999	2	4	118	1	0	0	0	0	0	0	0	1	15853	680	24	4		4	TEP1	14	20836999	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	620997	20836999	86512541	224	22317											
NPAS3	64067	broad.mit.edu	37	chr14	33684485	33684485	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattggccaagttgttgcctCttcctgcagccattaccagc	8	12	8	13	0	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	3	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:33684485C>G	ENST00000346562.2	+	2	222	c.148C>G	c.(148-150)Ctt>Gtt	p.L50V	NPAS3_ENST00000548645.1_Missense_Mutation_p.L50V|NPAS3_ENST00000341321.4_Missense_Mutation_p.L80V|NPAS3_ENST00000357798.5_Missense_Mutation_p.L50V|NPAS3_ENST00000356141.4_Missense_Mutation_p.L80V|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000551492.1_Missense_Mutation_p.L87V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTTGTTGCCTCTTCCTGCAGC	0.488													34	87					0	0	0	0	G	33684485	C	G	33684485	3	3	118	1	0	0	0	0	1	0	0	0	10634	913	32	2	248	2	NPAS3	14	33684485	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	12847486	33684485	73665055	225	22318											
EXD2	55218	broad.mit.edu	37	chr14	69704350	69704350	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgagatgaaggaccacAactcccacgatgtgctgctg	11	7	10	13	2	0	2	0	1	0	1	2	5	1	3	3	1	3	2	3	1	2	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:69704350A>T	ENST00000409014.1	+	10	1633	c.976A>T	c.(976-978)Aac>Tac	p.N326Y	EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409949.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409675.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409242.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409018.3_Missense_Mutation_p.N451Y|EXD2_ENST00000312994.5_Missense_Mutation_p.N451Y	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	326					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GAAGGACCACAACTCCCACGA	0.547													16	37					0	0	0	0	T	69704350	A	T	69704350	3	4	118	1	0	0	0	0	1	0	0	0	5335	130	5	5	998	5	EXD2	14	69704350	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	36019865	69704350	37645190	226	22319											
STON2	85439	broad.mit.edu	37	chr14	81837512	81837512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaagggcatgtccagcaggGcatggtcaatggtagggctg	9	7	18	7	0	1	0	1	0	0	0	2	1	2	1	1	6	1	5	1	6	3	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:81837512G>A	ENST00000555447.1	-	5	803	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	STON2_ENST00000267540.2_Missense_Mutation_p.P131S	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	131					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GTCCAGCAGGGCATGGTCAAT	0.463													8	104					0	0	0	0	A	81837512	G	A	81837512	3	1	118	1	0	0	0	0	1	0	0	0	15408	1203	42	4	2336	4	STON2	14	81837512	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	12133162	81837512	25512028	227	22320											
CCDC88C	440193	broad.mit.edu	37	chr14	91787538	91787538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccaacaccagggacgCgtcccgcagcccctggatgg	7	5	11	18	3	0	0	0	0	0	0	3	2	3	2	6	3	2	1	6	3	1	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:91787538C>T	ENST00000389857.6	-	13	1539	c.1453G>A	c.(1453-1455)Gcg>Acg	p.A485T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	485					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ACCAGGGACGCGTCCCGCAGC	0.612													5	14					0	0	0	0	T	91787538	C	T	91787538	3	4	118	1	0	0	0	0	1	0	0	0	2892	768	27	1	4705	1	CCDC88C	14	91787538	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	9950026	91787538	15562002	228	22321											
DICER1	23405	broad.mit.edu	37	chr14	95574010	95574010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggtgtttcttttgtataCtttgtactgggaatgcctat	8	18	10	5	0	1	0	0	0	1	0	1	1	1	1	1	2	3	3	1	2	6	8			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:95574010C>G	ENST00000526495.1	-	19	3030	c.2739G>C	c.(2737-2739)aaG>aaC	p.K913N	DICER1_ENST00000527414.1_Missense_Mutation_p.K913N|DICER1_ENST00000541352.1_Missense_Mutation_p.K913N|DICER1_ENST00000343455.3_Missense_Mutation_p.K913N|DICER1_ENST00000393063.1_Missense_Mutation_p.K913N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	913	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTTTGTATACTTTGTACTGG	0.348			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				24	52					0	0	0	0	G	95574010	C	G	95574010	3	3	118	1	0	0	0	0	1	0	0	0	4558	564	20	4	3073	4	DICER1	14	95574010	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	3786472	95574010	11775530	229	22322											
DYNC1H1	1778	broad.mit.edu	37	chr14	102453025	102453025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcgcagaaggcattgcGttggtgtgggagtcctacaa	9	10	14	8	2	0	2	0	1	0	1	2	3	1	3	1	3	2	3	1	3	3	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:102453025G>A	ENST00000360184.4	+	8	2627	c.2463G>A	c.(2461-2463)gcG>gcA	p.A821A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	821	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAGGCATTGCGTTGGTGTGGG	0.502													16	103					0	0	0	0	A	102453025	G	A	102453025	2	1	118	1	0	0	0	0	0	0	0	1	4877	1132	40	1		1	DYNC1H1	14	102453025	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	6879015	102453025	4896515	230	22323											
ATP10A	57194	broad.mit.edu	37	chr15	25959061	25959061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggccgcatacaccagtgCggcctcatccgggctctccg	5	8	11	17	4	3	0	1	0	2	0	5	0	4	0	5	3	2	2	5	3	1	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:25959061C>A	ENST00000356865.6	-	10	2215	c.2104G>T	c.(2104-2106)Gca>Tca	p.A702S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	702					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TACACCAGTGCGGCCTCATCC	0.662													16	49					2.23348e-06	2.55255e-06	1	0	A	25959061	C	A	25959061	3	1	118	1	0	0	0	0	1	0	0	0	1120	768	27	3	2443	3	ATP10A	15	25959061	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08		25959061	76572331	231	22324											
SCG3	29106	broad.mit.edu	37	chr15	51984467	51984467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagaactaaaacctacagtGaagacaactttgaggaactc	17	7	9	8	0	0	4	0	2	0	2	1	6	0	5	1	2	5	0	1	2	7	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:51984467G>A	ENST00000220478.3	+	7	1205	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	SCG3_ENST00000542355.2_Missense_Mutation_p.E36K	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	268					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACCTACAGTGAAGACAACTT	0.383													5	75					0	0	0	0	A	51984467	G	A	51984467	3	1	118	1	0	0	0	0	1	0	0	0	13978	1291	45	2	828	2	SCG3	15	51984467	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	26025406	51984467	50546925	232	22325											
TMOD3	29766	broad.mit.edu	37	chr15	52188669	52188669	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctttggaaaccaacacAcatgtgaaatgtttcagtct	14	11	8	8	0	2	1	1	1	1	0	2	2	2	2	1	2	2	2	1	2	4	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:52188669A>T	ENST00000308580.7	+	7	962	c.681A>T	c.(679-681)acA>acT	p.T227T	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Silent_p.T227T	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	227						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		AAACCAACACACATGTGAAAT	0.373													14	89					0	0	0	0	T	52188669	A	T	52188669	2	4	118	1	0	0	0	0	0	0	0	1	16329	146	6	5		5	TMOD3	15	52188669	Silent	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	204202	52188669	50342723	233	22326											
WDR72	256764	broad.mit.edu	37	chr15	53889435	53889435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcttcatgtgttgttgaaCttccgccaagagaacagctt	10	13	8	10	1	2	2	1	1	1	1	3	3	3	2	2	0	3	3	2	0	3	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:53889435C>A	ENST00000396328.1	-	18	3228	c.2989G>T	c.(2989-2991)Gtt>Ttt	p.V997F	WDR72_ENST00000557913.1_Missense_Mutation_p.V994F|WDR72_ENST00000559418.1_Missense_Mutation_p.V1007F|WDR72_ENST00000360509.5_Missense_Mutation_p.V997F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	997										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTTGTTGAACTTCCGCCAAG	0.383													44	79					1.76056e-25	2.5308e-25	1	0	A	53889435	C	A	53889435	3	1	118	1	0	0	0	0	1	0	0	0	17418	565	20	4	331	4	WDR72	15	53889435	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1700766	53889435	48641957	234	22327											
PIGB	9488	broad.mit.edu	37	chr15	55647509	55647509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcgctttcctaatttcaaGcaattataaaagaactgctg	15	12	6	8	1	1	1	1	0	0	1	2	1	2	1	1	0	4	3	1	0	8	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:55647509G>A	ENST00000164305.5	+	12	1835	c.1544G>A	c.(1543-1545)aGc>aAc	p.S515N	CCPG1_ENST00000442196.3_3'UTR|DYX1C1-CCPG1_ENST00000565113.1_RNA|PIGB_ENST00000539642.1_Missense_Mutation_p.S320N|CCPG1_ENST00000310958.6_3'UTR	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	515					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTAATTTCAAGCAATTATAAA	0.343													11	29					0	0	0	0	A	55647509	G	A	55647509	3	1	118	1	0	0	0	0	1	0	0	0	11957	971	34	4	1590	4	PIGB	15	55647509	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	1758074	55647509	46883883	235	22328											
NEIL1	79661	broad.mit.edu	37	chr15	75641258	75641258	+	Frame_Shift_Del	DEL	C	C	-																															tccctcaggatgcctgagggCcccgagctgcacctggccag																										TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:75641258delC	ENST00000564784.1	+	3	641	c.12delC	c.(10-12)ggfs	p.G4fs	NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000355059.4_Frame_Shift_Del_p.G4fs|NEIL1_ENST00000569035.1_Frame_Shift_Del_p.G4fs			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	4					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TGCCTGAGGGCCCCGAGCTGC	0.657								Base excision repair (BER), DNA glycosylases					17	40	---	---	---	---					-	75641258	C	-	75641258	7	5	118	1	0	1	0	1	0	0	0	0	10388	726	26	0	14	0	NEIL1	15	75641258	Frame_Shift_Del	DEL	C	TCGA-CN-A63T-01A-11D-A28R-08	19993749	75641258	26890134	236	22329											
ZNF710	374655	broad.mit.edu	37	chr15	90617403	90617403	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggccacatgcacctgcAcgccggcagcaagcccttca	8	5	11	17	2	1	0	1	0	0	0	1	0	1	0	4	2	4	5	4	2	1	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:90617403A>G	ENST00000268154.4	+	4	1957	c.1706A>G	c.(1705-1707)cAc>cGc	p.H569R		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ATGCACCTGCACGCCGGCAGC	0.582													7	50					0	0	0	0	G	90617403	A	G	90617403	3	3	118	1	0	0	0	0	1	0	0	0	18210	159	6	5	1716	5	ZNF710	15	90617403	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	14976145	90617403	11913989	237	22330											
NME4	4833	broad.mit.edu	37	chr16	449681	449681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccatgattggacacaccGactcggctgaggctgcccca	8	6	13	14	2	0	2	0	2	0	0	1	4	0	3	4	4	1	2	4	4	0	1	rs145944648	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:449681G>A	ENST00000397722.1	+	4	646	c.172G>A	c.(172-174)Gac>Aac	p.D58N	NME4_ENST00000450036.1_Missense_Mutation_p.D58N|NME4_ENST00000382940.4_Missense_Mutation_p.D136N|NME4_ENST00000219479.2_Missense_Mutation_p.D128N			O00746	NDKM_HUMAN	NME/NM23 nucleoside diphosphate kinase 4	128					CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				TGGACACACCGACTCGGCTGA	0.612													18	121					0	0	0	0	A	449681	G	A	449681	3	1	118	1	0	0	0	0	1	0	0	0	10563	1058	37	1	396	1	NME4	16	449681	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08		449681	89905072	238	22331											
CRAMP1L	57585	broad.mit.edu	37	chr16	1706279	1706279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagcttgagcagcccggaCgctcctgacaggcctcctcc	7	7	10	17	2	0	2	0	2	0	0	3	3	3	3	5	2	3	3	5	2	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:1706279C>T	ENST00000397412.3	+	10	1620	c.1521C>T	c.(1519-1521)gaC>gaT	p.D507D	CRAMP1L_ENST00000262317.4_Intron|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Silent_p.D504D|CRAMP1L_ENST00000293925.5_Silent_p.D507D			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	507						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GCAGCCCGGACGCTCCTGACA	0.701													7	19					0	0	0	0	T	1706279	C	T	1706279	2	4	118	1	0	0	0	0	0	0	0	1	3876	535	19	1		1	CRAMP1L	16	1706279	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1256598	1706279	88648474	239	22332											
FTO	79068	broad.mit.edu	37	chr16	53967915	53967915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacaaatgctgtgcttcatGaagttaaaagagaggggctc	14	9	12	6	0	1	3	1	1	0	2	2	4	1	3	0	2	2	4	0	2	4	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:53967915G>A	ENST00000471389.1	+	8	1480	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	FTO_ENST00000431610.2_Missense_Mutation_p.E21K|FTO_ENST00000394647.3_Missense_Mutation_p.E124K|FTO_ENST00000463855.1_Missense_Mutation_p.E42K|FTO_ENST00000460382.1_Missense_Mutation_p.E21K	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	420					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGTGCTTCATGAAGTTAAAAG	0.408													9	36					0	0	0	0	A	53967915	G	A	53967915	3	1	118	1	0	0	0	0	1	0	0	0	6134	1291	45	2	1288	2	FTO	16	53967915	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	52261636	53967915	36386838	240	22333											
CCDC102A	92922	broad.mit.edu	37	chr16	57552018	57552018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggcctggctggccctcaGgtcgcagtccagtgcgctgg	3	7	16	15	4	1	0	1	0	0	0	3	0	2	0	3	5	1	3	3	5	0	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:57552018G>T	ENST00000258214.2	-	6	1456	c.1210C>A	c.(1210-1212)Ctg>Atg	p.L404M		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	404										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CTGGCCCTCAGGTCGCAGTCC	0.687													50	101					3.4597e-24	4.89681e-24	1	0	T	57552018	G	T	57552018	3	4	118	1	0	0	0	0	1	0	0	0	2761	991	35	4	458	4	CCDC102A	16	57552018	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	3584103	57552018	32802735	241	22334											
TRADD	8717	broad.mit.edu	37	chr16	67188853	67188853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggtccttcaggctcagcGgccgattcactgcagaggga	7	9	14	11	2	3	1	3	0	0	1	4	3	4	2	2	4	2	3	2	4	0	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:67188853G>A	ENST00000345057.4	-	5	1106	c.638C>T	c.(637-639)cCg>cTg	p.P213L	TRADD_ENST00000486556.1_Missense_Mutation_p.P153L	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	213	Death.				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGGCTCAGCGGCCGATTCAC	0.711													3	18					0	0	0	0	A	67188853	G	A	67188853	3	1	118	1	0	0	0	0	1	0	0	0	16531	1116	39	1	304	1	TRADD	16	67188853	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	9636835	67188853	23165900	242	22335											
CTCF	10664	broad.mit.edu	37	chr16	67645173	67645173	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgaagtgtctaaagagggCcttgcggaaagtgaacccat	14	8	12	7	1	1	3	0	2	1	1	1	4	1	4	2	2	2	0	2	2	6	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:67645173C>A	ENST00000264010.4	+	3	882	c.438C>A	c.(436-438)ggC>ggA	p.G146G	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	146					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CTAAAGAGGGCCTTGCGGAAA	0.483													41	76					2.2871e-25	3.27491e-25	1	0	A	67645173	C	A	67645173	2	1	118	1	0	0	0	0	0	0	0	1	4032	726	26	4		4	CTCF	16	67645173	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	456320	67645173	22709580	243	22336											
VPS4A	27183	broad.mit.edu	37	chr16	69349973	69349973	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaagaactacgaggaggcGctgcggctgtaccagcatgc	10	5	14	12	3	0	1	0	0	0	1	0	3	0	2	2	3	6	4	2	3	4	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:69349973G>T	ENST00000254950.11	+	2	240	c.84G>T	c.(82-84)gcG>gcT	p.A28A	VPS4A_ENST00000569775.1_3'UTR|RP11-343C2.3_ENST00000570054.2_Silent_p.A52A	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	28	Interaction with CHMP1B.|MIT.				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ACGAGGAGGCGCTGCGGCTGT	0.577													30	73					5.91797e-21	8.28065e-21	1	0	T	69349973	G	T	69349973	2	4	118	1	0	0	0	0	0	0	0	1	17308	1074	38	3		3	VPS4A	16	69349973	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	1704800	69349973	21004780	244	22337											
FBXO39	162517	broad.mit.edu	37	chr17	6683440	6683440	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtttggtatgttaagaagTttggtcgttatctggagcac	8	16	12	5	1	1	1	0	0	1	1	2	2	1	2	0	3	1	6	0	3	4	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:6683440T>C	ENST00000321535.4	+	2	383	c.253T>C	c.(253-255)Ttt>Ctt	p.F85L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	85										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGTTAAGAAGTTTGGTCGTTA	0.498													42	95					0	0	0	0	C	6683440	T	C	6683440	3	2	118	1	0	0	0	0	1	0	0	0	5792	1725	60	5	255	5	FBXO39	17	6683440	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08		6683440	74511770	245	22338											
TP53	7157	broad.mit.edu	37	chr17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatggccatggcgcggaCgcgggtgccgggcgggggtg	4	5	23	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	1	rs121912654		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCGCGGACGCGGGTGCCG	0.617		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	35					1.36161e-19	1.87668e-19	1	0	A	7578461	C	A	7578461	3	1	118	1	0	0	0	0	1	0	0	0	16476	536	19	3	829	3	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	895021	7578461	73616749	246	22339											
AKAP10	11216	broad.mit.edu	37	chr17	19844263	19844263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtaaacagttccactGgtcagcacttcaatctggta	11	10	9	11	0	3	0	2	0	1	0	4	0	4	0	2	3	2	4	2	3	4	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:19844263G>A	ENST00000225737.6	-	7	1279	c.1122C>T	c.(1120-1122)acC>acT	p.T374T	AKAP10_ENST00000395536.3_Silent_p.T374T	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	374					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CAGTTCCACTGGTCAGCACTT	0.428													15	29					0	0	0	0	A	19844263	G	A	19844263	2	1	118	1	0	0	0	0	0	0	0	1	446	1335	47	4		4	AKAP10	17	19844263	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	12265802	19844263	61350947	247	22340											
MYO18A	399687	broad.mit.edu	37	chr17	27421764	27421764	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggagctgtttcttgaccttGgccagagaagcctcatcctt	7	12	10	12	1	2	2	1	1	1	1	3	4	3	3	4	2	2	2	4	2	1	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:27421764G>A	ENST00000527372.1	-	30	4794	c.4614C>T	c.(4612-4614)gcC>gcT	p.A1538A	MYO18A_ENST00000533112.1_Silent_p.A1538A|MYO18A_ENST00000354329.4_Silent_p.A1538A|MYO18A_ENST00000531253.1_Silent_p.A1538A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1538					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCTTGACCTTGGCCAGAGAAG	0.537													20	91					0	0	0	0	A	27421764	G	A	27421764	2	1	118	1	0	0	0	0	0	0	0	1	10135	1335	47	4		4	MYO18A	17	27421764	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	7577501	27421764	53773446	248	22341											
ATAD5	79915	broad.mit.edu	37	chr17	29185322	29185322	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaccaagtactttcttcCgagtgtcatagtaaacaagg	13	10	9	9	1	2	0	1	0	1	0	3	2	3	0	2	1	3	3	2	1	6	5	rs140973444		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:29185322C>T	ENST00000321990.4	+	9	3315	c.2937C>T	c.(2935-2937)tcC>tcT	p.S979S	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	979					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TACTTTCTTCCGAGTGTCATA	0.264													3	24					0	0	0	0	T	29185322	C	T	29185322	2	4	118	1	0	0	0	0	0	0	0	1	1080	639	23	1		1	ATAD5	17	29185322	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1763558	29185322	52009888	249	22342											
GAS2L2	246176	broad.mit.edu	37	chr17	34073029	34073029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttggttaggccttggacaGgggttggagaacggacagac	9	9	16	7	1	1	2	0	0	1	2	1	5	1	4	1	7	1	2	1	7	2	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:34073029G>A	ENST00000254466.6	-	6	1514	c.1487C>T	c.(1486-1488)cCt>cTt	p.P496L	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P480L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	496					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCTTGGACAGGGGTTGGAGA	0.637													19	72					0	0	0	0	A	34073029	G	A	34073029	3	1	118	1	0	0	0	0	1	0	0	0	6296	1000	35	4	1159	4	GAS2L2	17	34073029	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	4887707	34073029	47122181	250	22343											
AATF	26574	broad.mit.edu	37	chr17	35346000	35346000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgataagaccaaactggCttctggaaaactggggaagg	14	6	13	8	1	1	1	0	0	1	1	1	4	1	3	1	5	2	2	1	5	5	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:35346000C>T	ENST00000225402.5	+	6	1381	c.1130C>T	c.(1129-1131)gCt>gTt	p.A377V		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	377	RB1 and SP1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				ACCAAACTGGCTTCTGGAAAA	0.463													6	39					0	0	0	0	T	35346000	C	T	35346000	3	4	118	1	0	0	0	0	1	0	0	0	25	797	28	4	1152	4	AATF	17	35346000	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1272971	35346000	45849210	251	22344											
MAPT	4137	broad.mit.edu	37	chr17	44061064	44061064	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaaagggcaggatgccccCctggagttcacgtttcacgt	8	8	12	13	2	2	0	2	0	0	0	2	2	2	2	4	3	1	3	4	3	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:44061064C>G	ENST00000344290.5	+	6	1216	c.894C>G	c.(892-894)ccC>ccG	p.P298P	MAPT_ENST00000347967.5_Intron|MAPT_ENST00000262410.5_Silent_p.P298P|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Silent_p.P298P|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.P298P|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000351559.5_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	298					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AGGATGCCCCCCTGGAGTTCA	0.617													10	64					0	0	0	0	G	44061064	C	G	44061064	2	3	118	1	0	0	0	0	0	0	0	1	9366	610	22	4		4	MAPT	17	44061064	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	8715064	44061064	37134146	252	22345											
NPEPPS	9520	broad.mit.edu	37	chr17	45673780	45673780	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcagctgtgatgaatacCtggaccaaacaaatgggatt	15	9	10	7	0	0	2	0	2	0	0	0	4	0	4	2	2	4	2	2	2	5	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:45673780C>T	ENST00000322157.4	+	13	1725	c.1488C>T	c.(1486-1488)acC>acT	p.T496T	NPEPPS_ENST00000544660.1_Silent_p.T416T|NPEPPS_ENST00000530173.1_Silent_p.T492T	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	496					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TGATGAATACCTGGACCAAAC	0.328													4	5					0	0	0	0	T	45673780	C	T	45673780	2	4	118	1	0	0	0	0	0	0	0	1	10645	668	24	4		4	NPEPPS	17	45673780	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1612716	45673780	35521430	253	22346											
PHOSPHO1	162466	broad.mit.edu	37	chr17	47302047	47302047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgccaaaggtgttggcatcgGagatgagaatcacctcgaag	12	7	13	9	3	1	2	1	1	0	2	3	5	1	2	2	3	0	2	2	3	3	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:47302047G>A	ENST00000413580.1	-	3	857	c.440C>T	c.(439-441)tCc>tTc	p.S147F	PHOSPHO1_ENST00000310544.4_Missense_Mutation_p.S122F|PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.S147F	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	122					regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	GTTGGCATCGGAGATGAGAAT	0.647													3	8					0	0	0	0	A	47302047	G	A	47302047	3	1	118	1	0	0	0	0	1	0	0	0	11928	1174	41	2	442	2	PHOSPHO1	17	47302047	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	1628267	47302047	33893163	254	22347											
SLC16A5	9121	broad.mit.edu	37	chr17	73089780	73089780	+	Frame_Shift_Del	DEL	C	C	-																															gcagctgggcctgggtggtgCtgctggccaccatggtgacc																										TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:73089780delC	ENST00000450736.2	+	2	464	c.49delC	c.(49-51)tgfs	p.L18fs	SLC16A5_ENST00000538213.2_Frame_Shift_Del_p.L58fs|SLC16A5_ENST00000580123.1_Frame_Shift_Del_p.L18fs|SLC16A5_ENST00000329783.4_Frame_Shift_Del_p.L18fs|SLC16A5_ENST00000585293.1_3'UTR			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	18					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CTGGGTGGTGCTGCTGGCCAC	0.647													18	51	---	---	---	---					-	73089780	C	-	73089780	7	5	118	1	0	1	0	1	0	0	0	0	14499	796	28	0	51	0	SLC16A5	17	73089780	Frame_Shift_Del	DEL	C	TCGA-CN-A63T-01A-11D-A28R-08	25787733	73089780	8105430	255	22348											
TNRC6C	57690	broad.mit.edu	37	chr17	76082941	76082941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcctgccaggttgcgcGcacaatcactaatctgcagc	8	9	9	15	2	3	0	1	0	2	0	3	0	3	0	2	1	5	3	2	1	2	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:76082941G>A	ENST00000335749.4	+	13	4129	c.3560G>A	c.(3559-3561)cGc>cAc	p.R1187H	TNRC6C_ENST00000301624.4_Missense_Mutation_p.R1190H|TNRC6C_ENST00000588061.1_Missense_Mutation_p.R1190H|TNRC6C_ENST00000544502.1_Missense_Mutation_p.R1187H|TNRC6C_ENST00000541771.1_Missense_Mutation_p.R1190H|TNRC6C_ENST00000588847.1_Missense_Mutation_p.R1187H	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1190					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGGTTGCGCGCACAATCACT	0.592													15	154					0	0	0	0	A	76082941	G	A	76082941	3	1	118	1	0	0	0	0	1	0	0	0	16436	1087	38	1	3611	1	TNRC6C	17	76082941	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	2993161	76082941	5112269	256	22349											
BAHCC1	57597	broad.mit.edu	37	chr17	79418800	79418800	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacagctccactgccccagcGcagccgcccacagccaaccc	9	2	8	22	2	0	0	0	0	0	0	1	1	1	0	7	0	6	2	7	0	1	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:79418800G>A	ENST00000307745.7	+	16	4083	c.4083G>A	c.(4081-4083)gcG>gcA	p.A1361A																								CTGCCCCAGCGCAGCCGCCCA	0.687													3	21					0	0	0	0	A	79418800	G	A	79418800	2	1	118	1	0	0	0	0	0	0	0	1	1300	1074	38	1		1	BAHCC1	17	79418800	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	3335859	79418800	1776410	257	22350											
DCXR	51181	broad.mit.edu	37	chr17	79994505	79994505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactccccgggctattaaGcccctggccacaatctggaa	9	7	11	14	1	1	0	0	0	1	0	2	2	2	2	5	4	1	1	5	4	4	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:79994505G>A	ENST00000306869.2	-	5	412	c.363C>T	c.(361-363)ggC>ggT	p.G121G	DCXR_ENST00000584318.1_5'UTR	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	121					D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity			kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGGCTATTAAGCCCCTGGCCA	0.612													27	83					0	0	0	0	A	79994505	G	A	79994505	2	1	118	1	0	0	0	0	0	0	0	1	4351	958	34	4		4	DCXR	17	79994505	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	575705	79994505	1200705	258	22351											
ZBTB7A	51341	broad.mit.edu	37	chr19	4054047	4054047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgtgtcgcggcagcttgCcggcgccctggatgaccttc	4	9	15	13	4	0	1	0	1	0	0	2	3	0	3	3	4	2	2	3	4	0	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:4054047C>T	ENST00000322357.4	-	2	1462	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.G395D	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	395					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCAGCTTGCCGGCGCCCTG	0.657													4	57					0	0	0	0	T	4054047	C	T	4054047	3	4	118	1	0	0	0	0	1	0	0	0	17648	739	26	4	578	4	ZBTB7A	19	4054047	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08		4054047	55074936	259	22352											
CD70	970	broad.mit.edu	37	chr19	6586078	6586078	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtctcatcagtgtttcGggaaggcaaaagtgtcccag	11	9	13	8	1	2	0	2	0	1	0	5	2	3	1	1	3	0	2	1	3	4	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:6586078G>T	ENST00000245903.3	-	3	684	c.535C>A	c.(535-537)Cga>Aga	p.R179R	CD70_ENST00000423145.3_Intron	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	179					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						TCAGTGTTTCGGGAAGGCAAA	0.507													5	26					0.014758	0.0151702	1	0	T	6586078	G	T	6586078	2	4	118	1	0	0	0	0	0	0	0	1	3062	1124	39	3		3	CD70	19	6586078	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	2532031	6586078	52542905	260	22353											
FBN3	84467	broad.mit.edu	37	chr19	8155123	8155124	+	Frame_Shift_Del	DEL	CT	CT	-																															caaaacgggtgaagcagaaaCtctgccgtgtgtctgtgggg																										TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:8155123_8155124delCT	ENST00000600128.1	-	49	6457_6458	c.6043_6044delAG	c.(6043-6045)tfs	p.S2015fs	FBN3_ENST00000601739.1_Frame_Shift_Del_p.S2015fs|FBN3_ENST00000270509.2_Frame_Shift_Del_p.S2015fs			Q75N90	FBN3_HUMAN	fibrillin 3	2015	TB 8.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAGCAGAAACTCTGCCGTGTG	0.619													24	29	---	---	---	---					-	8155124	CT	-	8155123	7	5	118	1	0	1	0	1	0	0	0	0	5749	565	20	0	2449	0	FBN3	19	8155123	Frame_Shift_Del	DEL	CT	TCGA-CN-A63T-01A-11D-A28R-08	1569045	8155123	50973860	261	22354											
LSM4	25804	broad.mit.edu	37	chr19	18420673	18420673	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaacttgtccccgtccTgcggagaaggggagcaggtt	8	7	15	11	2	0	2	0	0	0	2	2	4	2	3	4	4	3	2	4	4	2	2	rs112426584		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:18420673T>C	ENST00000593829.1	-	4	398		c.e4-2		LSM4_ENST00000252816.5_Splice_Site	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(3)	6						GTCCCCGTCCTGCGGAGAAGG	0.642													6	25					0	0	0	0	C	18420673	T	C	18420673	5	2	118	1	0	0	0	0	0	0	1	0	9122	1594	55	5	284	5	LSM4	19	18420673	Splice_Site	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	10265550	18420673	40708310	262	22355											
ZNF676	163223	broad.mit.edu	37	chr19	22364066	22364066	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagataggtgtgaaagcatGcaaaatgatctgacatattc	15	11	10	5	0	1	4	0	4	1	1	2	5	1	4	0	1	2	2	0	1	5	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:22364066G>T	ENST00000397121.2	-	3	770	c.453C>A	c.(451-453)tgC>tgA	p.C151*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C151fs*1(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTGAAAGCATGCAAAATGATC	0.333													21	57					2.39187e-15	3.248e-15	1	0	T	22364066	G	T	22364066	4	4	118	1	0	0	0	0	0	1	0	0	18178	1311	46	4	1317	4	ZNF676	19	22364066	Nonsense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	3943393	22364066	36764917	263	22356											
ZNF565	147929	broad.mit.edu	37	chr19	36673780	36673780	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccacattccttacactcaTagggtttctccccagaatga	10	12	5	14	0	2	2	1	1	1	1	5	2	4	2	4	1	1	1	4	1	3	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:36673780T>A	ENST00000355114.5	-	5	1934	c.1208A>T	c.(1207-1209)tAt>tTt	p.Y403F	ZNF565_ENST00000392173.2_Missense_Mutation_p.Y363F|ZNF565_ENST00000304116.5_Missense_Mutation_p.Y363F			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CTTACACTCATAGGGTTTCTC	0.483													16	64					0	0	0	0	A	36673780	T	A	36673780	3	1	118	1	0	0	0	0	1	0	0	0	18091	1406	49	5	415	5	ZNF565	19	36673780	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	14309714	36673780	22455203	264	22357											
RYR1	6261	broad.mit.edu	37	chr19	38973678	38973678	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccaggtggaacccaaCactaagctatttcctgccgt	9	10	8	14	1	1	0	0	0	1	0	2	1	2	1	4	2	5	1	4	2	4	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:38973678C>T	ENST00000355481.4	+	32	4763	c.4632C>T	c.(4630-4632)aaC>aaT	p.N1544N	RYR1_ENST00000359596.3_Silent_p.N1544N|RYR1_ENST00000360985.3_Silent_p.N1544N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1544	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGAACCCAACACTAAGCTAT	0.567													36	81					0	0	0	0	T	38973678	C	T	38973678	2	4	118	1	0	0	0	0	0	0	0	1	13853	477	17	4		4	RYR1	19	38973678	Silent	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	2299898	38973678	20155305	265	22358											
LTBP4	8425	broad.mit.edu	37	chr19	41131858	41131858	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctacacagagtgctgctGcctgtatggagaggcctggg	8	8	14	11	0	0	2	0	0	0	2	0	3	0	2	3	3	4	3	3	3	2	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:41131858G>C	ENST00000308370.7	+	31	4127	c.4127G>C	c.(4126-4128)tGc>tCc	p.C1376S	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.C744S|LTBP4_ENST00000204005.9_Missense_Mutation_p.C1339S|LTBP4_ENST00000396819.3_Missense_Mutation_p.C1309S|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1377	TB 4.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGTGCTGCTGCCTGTATGGA	0.642													6	16					0	0	0	0	C	41131858	G	C	41131858	3	2	118	1	0	0	0	0	1	0	0	0	9140	1319	46	4	4540	4	LTBP4	19	41131858	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	2158180	41131858	17997125	266	22359											
DMRTC2	63946	broad.mit.edu	37	chr19	42353199	42353199	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttttattcttattaggCtttgaccctggcacctccct	6	18	5	12	0	2	1	0	1	2	0	3	1	3	1	3	2	0	2	3	2	3	7			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:42353199C>A	ENST00000269945.3	+	6	681	c.628_splice	c.e6-1	p.G210_splice	DMRTC2_ENST00000596827.1_Splice_Site_p.G210_splice	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	210	Pro-rich.				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						TCTTATTAGGCTTTGACCCTG	0.532													36	113					7.53189e-24	1.06197e-23	1	0	A	42353199	C	A	42353199	5	1	118	1	0	0	0	0	0	0	1	0	4628	811	28	4	648	4	DMRTC2	19	42353199	Splice_Site	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	1221341	42353199	16775784	267	22360											
PRR19	284338	broad.mit.edu	37	chr19	42813749	42813749	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggacaccatggatacccagGgaccagtctcccagcctttt	10	8	9	14	0	1	0	0	0	1	0	2	3	1	3	5	3	2	0	5	3	1	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:42813749G>T	ENST00000499536.2	+	1	824	c.13G>T	c.(13-15)Gga>Tga	p.G5*	PRR19_ENST00000598490.1_Nonsense_Mutation_p.G5*|PRR19_ENST00000341747.3_Nonsense_Mutation_p.G5*			A6NJB7	PRR19_HUMAN	proline rich 19	5										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GGATACCCAGGGACCAGTCTC	0.582													24	84					1.10923e-09	1.3744e-09	1	0	T	42813749	G	T	42813749	4	4	118	1	0	0	0	0	0	1	0	0	12671	1233	43	4	15	4	PRR19	19	42813749	Nonsense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	460550	42813749	16315234	268	22361											
CEACAM1	634	broad.mit.edu	37	chr19	43015732	43015732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagtggctttacttactgtgGttggagactgagggtttgtg	7	15	15	4	0	0	2	0	1	0	1	0	3	0	2	0	4	2	3	0	4	3	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:43015732G>T	ENST00000161559.6	-	7	1559	c.1425C>A	c.(1423-1425)aaC>aaA	p.N475K	CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000358394.3_Missense_Mutation_p.N410K|CEACAM1_ENST00000352591.5_Missense_Mutation_p.N379K|CEACAM1_ENST00000351134.3_Missense_Mutation_p.N201K|CEACAM1_ENST00000488639.2_5'UTR|CEACAM1_ENST00000308072.4_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000599389.1_Intron|CEACAM1_ENST00000403444.3_Intron	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	475					angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ACTTACTGTGGTTGGAGACTG	0.507													9	41					0.335167	0.337922	1	0	T	43015732	G	T	43015732	3	4	118	1	0	0	0	0	1	0	0	0	3216	1252	44	4	167	4	CEACAM1	19	43015732	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	201983	43015732	16113251	269	22362											
PSG11	5680	broad.mit.edu	37	chr19	43523066	43523066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctgcatcctatgagtcaTagggaggctctgaccattca	10	10	10	11	0	3	2	2	2	1	0	4	3	4	3	2	2	2	3	2	2	2	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:43523066T>C	ENST00000401740.1	-	3	668	c.565A>G	c.(565-567)Atg>Gtg	p.M189V	PSG11_ENST00000306322.7_Missense_Mutation_p.M67V|PSG11_ENST00000403486.1_Missense_Mutation_p.M67V|PSG11_ENST00000320078.7_Missense_Mutation_p.M189V|PSG11_ENST00000595312.1_5'UTR			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	189	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CTATGAGTCATAGGGAGGCTC	0.483													140	370					0	0	0	0	C	43523066	T	C	43523066	3	2	118	1	0	0	0	0	1	0	0	0	12733	1406	49	5	454	5	PSG11	19	43523066	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	507334	43523066	15605917	270	22363											
ZNF404	342908	broad.mit.edu	37	chr19	44377279	44377279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgagagcctctacaaaaggCctttccacaatccttacaat	13	11	5	12	0	1	1	0	1	1	1	3	2	3	1	4	1	3	0	4	1	6	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:44377279C>T	ENST00000587539.1	-	3	1086	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T	ZNF404_ENST00000324394.6_Missense_Mutation_p.A361T	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CTACAAAAGGCCTTTCCACAA	0.393													6	36					0	0	0	0	T	44377279	C	T	44377279	3	4	118	1	0	0	0	0	1	0	0	0	17981	739	26	4	575	4	ZNF404	19	44377279	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	854213	44377279	14751704	271	22364											
ZNF701	55762	broad.mit.edu	37	chr19	53086565	53086565	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtaatgaatgtggcaaggTttttaatcacaaatcaaacc	15	12	8	6	0	2	1	2	1	0	0	2	1	2	1	1	2	1	3	1	2	6	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:53086565T>A	ENST00000540331.1	+	5	1676	c.1451T>A	c.(1450-1452)gTt>gAt	p.V484D	ZNF701_ENST00000301093.2_Missense_Mutation_p.V484D|ZNF701_ENST00000391785.3_Missense_Mutation_p.V418D|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGTGGCAAGGTTTTTAATCAC	0.358													18	34					0	0	0	0	A	53086565	T	A	53086565	3	1	118	1	0	0	0	0	1	0	0	0	18200	1725	60	5	1465	5	ZNF701	19	53086565	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	8709286	53086565	6042418	272	22365											
LILRA2	11027	broad.mit.edu	37	chr19	55098523	55098523	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaacaagacagactccacGactagtgagtgaggagatgc	16	5	11	9	1	0	5	0	2	0	3	1	7	1	5	1	1	2	0	1	1	4	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:55098523G>T	ENST00000251377.3	+	8	1435	c.1302G>T	c.(1300-1302)acG>acT	p.T434T	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Intron|LILRA2_ENST00000391738.3_Silent_p.T434T|LILRA2_ENST00000251376.3_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CAGACTCCACGACTAGTGAGT	0.567													6	32					3.59834e-05	3.94103e-05	1	0	T	55098523	G	T	55098523	2	4	118	1	0	0	0	0	0	0	0	1	8839	1045	37	3		3	LILRA2	19	55098523	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	2011958	55098523	4030460	273	22366											
NLRP2	55655	broad.mit.edu	37	chr19	55493809	55493809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgttctacctcagctgcaGggagctcagccgcctgggcc	5	8	13	15	2	3	0	2	0	1	0	3	1	3	1	4	2	6	4	4	2	1	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:55493809G>A	ENST00000543010.1	+	6	886	c.743G>A	c.(742-744)aGg>aAg	p.R248K	NLRP2_ENST00000427260.2_Missense_Mutation_p.R225K|NLRP2_ENST00000538819.1_Missense_Mutation_p.R224K|NLRP2_ENST00000537859.1_Missense_Mutation_p.R226K|NLRP2_ENST00000448584.2_Missense_Mutation_p.R248K|NLRP2_ENST00000263437.6_Missense_Mutation_p.R245K|NLRP2_ENST00000391721.4_Missense_Mutation_p.R224K|NLRP2_ENST00000339757.7_Missense_Mutation_p.R226K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	248	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTCAGCTGCAGGGAGCTCAGC	0.557													13	44					0	0	0	0	A	55493809	G	A	55493809	3	1	118	1	0	0	0	0	1	0	0	0	10547	1000	35	4	761	4	NLRP2	19	55493809	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	395286	55493809	3635174	274	22367											
NLRP2	55655	broad.mit.edu	37	chr19	55493823	55493823	+	Missense_Mutation	SNP	C	C	A																															gctgcagggagctcagccgcCtgggcccgtgcagttttgca																										TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:55493823C>A	ENST00000543010.1	+	6	900	c.757C>A	c.(757-759)Ctg>Atg	p.L253M	NLRP2_ENST00000427260.2_Missense_Mutation_p.L230M|NLRP2_ENST00000538819.1_Missense_Mutation_p.L229M|NLRP2_ENST00000537859.1_Missense_Mutation_p.L231M|NLRP2_ENST00000448584.2_Missense_Mutation_p.L253M|NLRP2_ENST00000263437.6_Missense_Mutation_p.L250M|NLRP2_ENST00000391721.4_Missense_Mutation_p.L229M|NLRP2_ENST00000339757.7_Missense_Mutation_p.L231M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	253	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTCAGCCGCCTGGGCCCGTG	0.532													16	43					1.3612e-06	1.57029e-06	1	0	A	55493823	C	A	55493823	3	1	118	1	0	0	0	0	1	0	0	0	10547	680	24	4	775	4	NLRP2	19	55493823	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	14	55493823	3635160	275	22368	182	2									
NLRP2	55655	broad.mit.edu	37	chr19	55493831	55493831	+	Silent	SNP	G	G	C																															gagctcagccgcctgggcccGtgcagttttgcagagctggt																								rs151132029	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:55493831G>C	ENST00000543010.1	+	6	908	c.765G>C	c.(763-765)ccG>ccC	p.P255P	NLRP2_ENST00000427260.2_Silent_p.P232P|NLRP2_ENST00000538819.1_Silent_p.P231P|NLRP2_ENST00000537859.1_Silent_p.P233P|NLRP2_ENST00000448584.2_Silent_p.P255P|NLRP2_ENST00000263437.6_Silent_p.P252P|NLRP2_ENST00000391721.4_Silent_p.P231P|NLRP2_ENST00000339757.7_Silent_p.P233P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	255	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCTGGGCCCGTGCAGTTTTG	0.527													17	42					0	0	0	0	C	55493831	G	C	55493831	2	2	118	1	0	0	0	0	0	0	0	1	10547	1132	40	3		3	NLRP2	19	55493831	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	8	55493831	3635152	276	22369	182	2									
ZNF667	63934	broad.mit.edu	37	chr19	56973797	56973797	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagagagctggtaaggcagGgctgtggggagaagacaggt	11	5	20	5	0	0	3	0	0	0	3	0	5	0	3	0	6	1	5	0	6	2	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:56973797G>T	ENST00000342634.3	-	3	221	c.220_splice	c.e3-1	p.A74_splice	ZNF667_ENST00000504904.3_5'UTR|ZNF667_ENST00000292069.6_5'UTR|ZNF667_ENST00000591790.1_5'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGTAAGGCAGGGCTGTGGGGA	0.557													16	62					9.16793e-09	1.10616e-08	1	0	T	56973797	G	T	56973797	5	4	118	1	0	0	0	0	0	0	1	0	18169	1246	43	4		4	ZNF667	19	56973797	Splice_Site	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	1479966	56973797	2155186	277	22370											
NOP56	10528	broad.mit.edu	37	chr20	2638813	2638813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgaggaggcaggccacaGaagtggctccaagaaaaaga	15	3	13	10	0	0	4	0	1	0	3	1	5	1	5	3	4	0	2	3	4	4	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:2638813G>A	ENST00000329276.5	+	12	2174	c.1658G>A	c.(1657-1659)aGa>aAa	p.R553K	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	553	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GCAGGCCACAGAAGTGGCTCC	0.522													3	13					0	0	0	0	A	2638813	G	A	2638813	3	1	118	1	0	0	0	0	1	0	0	0	10609	942	33	2	1704	2	NOP56	20	2638813	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08		2638813	60386707	278	22371											
MACROD2	140733	broad.mit.edu	37	chr20	15866440	15866440	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaagaagaggatgttgaAatgaaagaagattcaggtat	19	8	13	1	0	1	7	1	2	0	5	1	9	1	8	0	2	0	2	0	2	7	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:15866440A>C	ENST00000217246.4	+	10	1154	c.759A>C	c.(757-759)gaA>gaC	p.E253D	MACROD2_ENST00000378058.3_Missense_Mutation_p.E18D|MACROD2_ENST00000310348.4_Missense_Mutation_p.E253D|MACROD2_ENST00000402914.1_Missense_Mutation_p.E18D	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	253	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGGATGTTGAAATGAAAGAAG	0.299													22	91					0	0	0	0	C	15866440	A	C	15866440	3	2	118	1	0	0	0	0	1	0	0	0	9211	11	1	5	797	5	MACROD2	20	15866440	Missense_Mutation	SNP	A	TCGA-CN-A63T-01A-11D-A28R-08	13227627	15866440	47159080	279	22372											
RALGAPA2	57186	broad.mit.edu	37	chr20	20601122	20601122	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attacctccttgctatcagtCtcggaaaatcctaatttttc	10	16	4	11	1	2	0	1	0	1	0	6	1	4	1	3	1	2	1	3	1	5	6			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:20601122C>G	ENST00000202677.6	-	11	1528	c.1386G>C	c.(1384-1386)gaG>gaC	p.E462D		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	462					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGCTATCAGTCTCGGAAAATC	0.383													9	40					0	0	0	0	G	20601122	C	G	20601122	3	3	118	1	0	0	0	0	1	0	0	0	13096	912	32	2	4351	2	RALGAPA2	20	20601122	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	4734682	20601122	42424398	280	22373											
DDX27	55661	broad.mit.edu	37	chr20	47839824	47839824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggataaagaagccaagtctgGgaagttggaaaaggagaaag	18	5	15	3	0	1	2	0	0	1	2	1	6	1	5	1	4	1	1	1	4	8	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:47839824G>A	ENST00000371764.4	+	4	422	c.413G>A	c.(412-414)gGg>gAg	p.G138E	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	138	Asp/Glu/Lys-rich.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCAAGTCTGGGAAGTTGGAA	0.453													20	41					0	0	0	0	A	47839824	G	A	47839824	3	1	118	1	0	0	0	0	1	0	0	0	4386	1232	43	4	427	4	DDX27	20	47839824	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	27238702	47839824	15185696	281	22374											
PMEPA1	56937	broad.mit.edu	37	chr20	56227349	56227349	+	Frame_Shift_Del	DEL	G	G	-																															ctgatgcccgagttactgctGggggggcaggggccgcccag																										TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:56227349delG	ENST00000341744.3	-	4	943	c.624delC	c.(622-624)ccfs	p.P208fs	PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.P173fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	208					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGTTACTGCTGGGGGGGCAGG	0.682													29	67	---	---	---	---					-	56227349	G	-	56227349	7	5	118	1	0	1	0	1	0	0	0	0	12204	1335	47	0	243	0	PMEPA1	20	56227349	Frame_Shift_Del	DEL	G	TCGA-CN-A63T-01A-11D-A28R-08	8387525	56227349	6798171	282	22375											
C20orf197	284756	broad.mit.edu	37	chr20	58645071	58645071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccttattggcaggcagaCggctacgggcacagccacag	10	5	13	13	2	0	1	0	0	0	1	0	1	0	1	2	4	3	4	2	4	2	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:58645071C>A	ENST00000313426.1	+	3	348	c.42C>A	c.(40-42)gaC>gaA	p.D14E		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	14										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			GGCAGGCAGACGGCTACGGGC	0.562													28	58					1.06801e-11	1.36944e-11	1	0	A	58645071	C	A	58645071	3	1	118	1	0	0	0	0	1	0	0	0	2122	535	19	3	44	3	C20orf197	20	58645071	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	2417722	58645071	4380449	283	22376											
TMPRSS15	5651	broad.mit.edu	37	chr21	19653540	19653540	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggctctaagtttctccTgaaaattgtaatgaagaaat	14	13	9	5	0	2	3	0	2	2	1	3	4	2	4	1	2	0	3	1	2	6	4			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr21:19653540T>A	ENST00000284885.3	-	22	2520		c.e22-2			NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15						proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAGTTTCTCCTGAAAATTGTA	0.378													18	35					0	0	0	0	A	19653540	T	A	19653540	5	1	118	1	0	0	0	0	0	0	1	0	16340	1594	55	5	590	5	TMPRSS15	21	19653540	Splice_Site	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08		19653540	28476355	284	22377											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812721	31812721	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaggtatccagtttccactTataatttgttctaccccagc	9	15	6	11	0	1	1	0	1	1	0	3	1	3	1	4	1	2	3	4	1	4	7			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr21:31812721T>C	ENST00000334067.3	+	1	125	c.76T>C	c.(76-78)Tat>Cat	p.Y26H		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	26						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						AGTTTCCACTTATAATTTGTT	0.473													10	42					0	0	0	0	C	31812721	T	C	31812721	3	2	118	1	0	0	0	0	1	0	0	0	8578	1754	61	5	78	5	KRTAP15-1	21	31812721	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	12159181	31812721	16317174	285	22378											
ATF4	468	broad.mit.edu	37	chr22	39918236	39918236	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgagcccagagtcctatCtggggtctcctcagcacagc	8	9	11	13	0	3	2	1	1	2	1	5	2	4	2	3	2	3	2	3	2	2	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr22:39918236C>A	ENST00000337304.2	+	2	1567	c.685C>A	c.(685-687)Ctg>Atg	p.L229M	ATF4_ENST00000404241.2_Missense_Mutation_p.L229M|ATF4_ENST00000396680.1_Missense_Mutation_p.L229M	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	229					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					AGAGTCCTATCTGGGGTCTCC	0.537													3	16					0.014758	0.0151702	1	0	A	39918236	C	A	39918236	3	1	118	1	0	0	0	0	1	0	0	0	1086	912	32	2	691	2	ATF4	22	39918236	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08		39918236	11386330	286	22379											
IL17REL	400935	broad.mit.edu	37	chr22	50438984	50438984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtgacatagaggtgctggGccacgctcaccgcaaagcag	10	5	15	11	2	1	2	1	1	0	1	1	2	1	2	2	3	2	4	2	3	2	1			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr22:50438984G>A	ENST00000389983.2	-	6	521	c.257C>T	c.(256-258)gCc>gTc	p.A86V	IL17REL_ENST00000341280.5_Missense_Mutation_p.A86V	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	86										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGTGCTGGGCCACGCTCAC	0.647													20	65					0	0	0	0	A	50438984	G	A	50438984	3	1	118	1	0	0	0	0	1	0	0	0	7697	1203	42	4	789	4	IL17REL	22	50438984	Missense_Mutation	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	10520748	50438984	865582	287	22380											
CXorf22	170063	broad.mit.edu	37	chrX	35969427	35969427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atacaataatagcccagagcCcataaattgggtggccatca	15	8	8	10	0	1	1	1	0	0	1	1	1	1	1	3	2	3	0	3	2	6	5			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:35969427C>A	ENST00000297866.5	+	5	902	c.836C>A	c.(835-837)cCc>cAc	p.P279H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	279										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGCCCAGAGCCCATAAATTGG	0.403													7	7					2.7689e-08	3.30829e-08	1	0	A	35969427	C	A	35969427	3	1	118	1	0	0	0	0	1	0	0	0	4134	623	22	4	854	4	CXorf22	23	35969427	Missense_Mutation	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08		35969427	119301133	288	22381											
CXorf22	170063	broad.mit.edu	37	chrX	35985814	35985814	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgcaagaattatgcacctgTagcaatgcttcaatcagcca	14	9	7	11	1	2	1	2	0	0	1	2	1	2	1	2	0	4	5	2	0	6	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:35985814T>A	ENST00000297866.5	+	10	1745	c.1679T>A	c.(1678-1680)gTa>gAa	p.V560E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	560										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TATGCACCTGTAGCAATGCTT	0.433													13	16					0	0	0	0	A	35985814	T	A	35985814	3	1	118	1	0	0	0	0	1	0	0	0	4134	1638	57	5	1717	5	CXorf22	23	35985814	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	16387	35985814	119284746	289	22382											
DGKK	139189	broad.mit.edu	37	chrX	50135408	50135408	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatctccaccacaaacCagaatgcgaaagcgagcaaa	16	4	7	14	2	1	1	0	0	1	1	2	3	1	1	4	0	5	1	4	0	4	0			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:50135408C>G	ENST00000376025.2	-	0	1694							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CACCACAAACCAGAATGCGAA	0.453													26	27					0	0	0	0	G	50135408	C	G	50135408	1	3	118	0	1	0	0	0	0	0	0	0	4509	581	21	4		4	DGKK	23	50135408	RNA	SNP	C	TCGA-CN-A63T-01A-11D-A28R-08	14149594	50135408	105135152	290	22383											
EDA2R	60401	broad.mit.edu	37	chrX	65819587	65819587	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggatagggttaagtggctgGgtctgaaagatgttctcact	10	12	14	5	0	2	2	1	1	2	1	3	3	2	3	0	4	0	3	0	4	3	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:65819587G>T	ENST00000374719.3	-	6	689	c.633C>A	c.(631-633)acC>acA	p.T211T	EDA2R_ENST00000253392.5_Silent_p.T232T|EDA2R_ENST00000456230.2_Silent_p.T211T|EDA2R_ENST00000396050.1_Silent_p.T211T|EDA2R_ENST00000450752.1_Silent_p.T232T|EDA2R_ENST00000451436.2_Silent_p.T87T	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	211					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TAAGTGGCTGGGTCTGAAAGA	0.547													10	1					0.0581538	0.0596117	1	0	T	65819587	G	T	65819587	2	4	118	1	0	0	0	0	0	0	0	1	4940	1219	43	4		4	EDA2R	23	65819587	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	15684179	65819587	89450973	291	22384											
NLGN3	54413	broad.mit.edu	37	chrX	70384131	70384131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgtctttggctcgggcaTtggtgcatcctgcgtcagcc	4	12	12	13	2	2	0	1	0	1	0	4	0	3	0	2	3	3	3	2	3	0	2			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:70384131T>C	ENST00000374051.3	+	5	1128	c.806T>C	c.(805-807)aTt>aCt	p.I269T	NLGN3_ENST00000358741.3_Missense_Mutation_p.I289T|NLGN3_ENST00000536169.1_Missense_Mutation_p.I249T|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	289					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGCTCGGGCATTGGTGCATCC	0.592													12	15					0	0	0	0	C	70384131	T	C	70384131	3	2	118	1	0	0	0	0	1	0	0	0	10533	1493	52	5	884	5	NLGN3	23	70384131	Missense_Mutation	SNP	T	TCGA-CN-A63T-01A-11D-A28R-08	4564544	70384131	84886429	292	22385											
IGSF1	3547	broad.mit.edu	37	chrX	130419171	130419171	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgctacaaccagcttcaGggggttgctgggctctgacc	7	9	12	13	0	2	1	1	1	1	0	2	1	2	1	3	3	5	5	3	3	2	3			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:130419171G>A	ENST00000370904.1	-	11	1532	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	IGSF1_ENST00000370903.3_Silent_p.L217L|IGSF1_ENST00000370910.1_Silent_p.L208L|IGSF1_ENST00000361420.3_Silent_p.L217L|IGSF1_ENST00000370901.4_Silent_p.L217L|IGSF1_ENST00000370900.1_Silent_p.L217L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	217	Ig-like C2-type 2.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.L217L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACCAGCTTCAGGGGGTTGCTG	0.537													37	22					0	0	0	0	A	130419171	G	A	130419171	2	1	118	1	0	0	0	0	0	0	0	1	7649	991	35	4		4	IGSF1	23	130419171	Silent	SNP	G	TCGA-CN-A63T-01A-11D-A28R-08	60035040	130419171	24851389	293	22386											
SKI	6497	broad.mit.edu	37	chr1	2235418	2235418	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctcgccacttgcaccCagcctcggaagcggaagctg	8	6	11	16	3	1	0	0	0	1	0	3	2	1	2	4	2	5	2	4	2	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:2235418C>T	ENST00000378536.4	+	4	1423	c.1351C>T	c.(1351-1353)Cag>Tag	p.Q451*		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	451					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CACTTGCACCCAGCCTCGGAA	0.716													6	13					0	0	0	0	T	2235418	C	T	2235418	4	4	119	1	0	0	0	0	0	1	0	0	14445	595	21	4	1365	4	SKI	1	2235418	Nonsense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08		2235418	247015203	1	22387											
CNKSR1	10256	broad.mit.edu	37	chr1	26504062	26504062	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaccggtagagacctggacCcccggaaaggtggcaacttg	11	5	14	11	2	0	1	0	0	0	1	0	5	0	3	4	5	2	2	4	5	4	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:26504062C>G	ENST00000361530.6	+	1	169	c.24C>G	c.(22-24)acC>acG	p.T8T	CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000374253.5_Silent_p.T8T			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	8	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AGACCTGGACCCCCGGAAAGG	0.637													10	50					0	0	0	0	G	26504062	C	G	26504062	2	3	119	1	0	0	0	0	0	0	0	1	3636	610	22	4		4	CNKSR1	1	26504062	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	24268644	26504062	222746559	2	22388											
AHDC1	27245	broad.mit.edu	37	chr1	27875113	27875113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaaccggctgattgaactGggtgctgtcggaggatgact	9	9	14	9	2	0	3	0	3	0	0	1	5	0	5	2	4	3	2	2	4	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:27875113G>C	ENST00000374011.2	-	6	4482	c.3514C>G	c.(3514-3516)Cag>Gag	p.Q1172E	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.Q1172E	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1172							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGATTGAACTGGGTGCTGTCG	0.597													20	77					0	0	0	0	C	27875113	G	C	27875113	3	2	119	1	0	0	0	0	1	0	0	0	412	1357	47	4	1301	4	AHDC1	1	27875113	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1371051	27875113	221375508	3	22389											
EPB41	2035	broad.mit.edu	37	chr1	29344777	29344777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcggcaggacatagttgcagGacgtctgccctgttcctttg	6	12	12	11	2	1	0	0	0	1	0	3	2	2	2	2	3	2	4	2	3	1	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:29344777G>A	ENST00000343067.4	+	7	1074	c.947G>A	c.(946-948)gGa>gAa	p.G316E	EPB41_ENST00000373798.1_Missense_Mutation_p.G316E|EPB41_ENST00000356093.2_Missense_Mutation_p.G316E|EPB41_ENST00000349460.4_Missense_Mutation_p.G107E|EPB41_ENST00000373800.3_Missense_Mutation_p.G107E|EPB41_ENST00000347529.3_Missense_Mutation_p.G281E|EPB41_ENST00000398863.2_Missense_Mutation_p.G316E|EPB41_ENST00000373797.1_Missense_Mutation_p.G316E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	316	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATAGTTGCAGGACGTCTGCCC	0.418													34	51					0	0	0	0	A	29344777	G	A	29344777	3	1	119	1	0	0	0	0	1	0	0	0	5189	1174	41	2	969	2	EPB41	1	29344777	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1469664	29344777	219905844	4	22390											
MATN1	4146	broad.mit.edu	37	chr1	31191603	31191603	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaggcctcctggaactTcctggacagcttctcgatga	9	9	11	12	1	1	2	0	1	1	1	4	5	3	4	3	3	2	2	3	3	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:31191603T>G	ENST00000373765.4	-	3	678	c.643A>C	c.(643-645)Aag>Cag	p.K215Q	MATN1-AS1_ENST00000414532.2_RNA|MATN1_ENST00000477320.1_5'UTR	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	215	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGGAACTTCCTGGACAGC	0.706													16	25					0	0	0	0	G	31191603	T	G	31191603	3	3	119	1	0	0	0	0	1	0	0	0	9402	1792	62	5	871	5	MATN1	1	31191603	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	1846826	31191603	218059018	5	22391											
SPOCD1	90853	broad.mit.edu	37	chr1	32265700	32265700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggtcagagaggccacCagggtcccctgctgtgcctc	7	6	15	13	0	1	1	1	0	0	1	3	3	2	1	5	4	2	1	5	4	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:32265700C>T	ENST00000360482.2	-	5	1774	c.1645G>A	c.(1645-1647)Ggt>Agt	p.G549S	SPOCD1_ENST00000533231.1_Missense_Mutation_p.G549S|SPOCD1_ENST00000373648.2_Missense_Mutation_p.G490S|SPOCD1_ENST00000257100.3_Missense_Mutation_p.G42S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	549				G -> D (in Ref. 1; BAC04981).	transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GAGAGGCCACCAGGGTCCCCT	0.622													11	20					0	0	0	0	T	32265700	C	T	32265700	3	4	119	1	0	0	0	0	1	0	0	0	15168	594	21	4	2053	4	SPOCD1	1	32265700	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1074097	32265700	216984921	6	22392											
CSMD2	114784	broad.mit.edu	37	chr1	34276392	34276392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacacagtgtgcattgttGtcatactgaatggggaaatt	12	12	10	7	0	1	1	1	1	0	0	1	2	1	2	0	2	2	2	0	2	3	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:34276392G>A	ENST00000373381.4	-	10	1574	c.1398C>T	c.(1396-1398)gaC>gaT	p.D466D	CSMD2_ENST00000338325.1_Silent_p.D23D	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	426	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGCATTGTTGTCATACTGAA	0.572													35	111					0	0	0	0	A	34276392	G	A	34276392	2	1	119	1	0	0	0	0	0	0	0	1	3977	1368	48	4		4	CSMD2	1	34276392	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2010692	34276392	214974229	7	22393											
HIVEP3	59269	broad.mit.edu	37	chr1	42047048	42047048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagaaaagggagactggtgGgggcaggtatggcttctcat	10	8	18	5	0	1	2	1	0	1	2	2	4	1	2	0	7	0	3	0	7	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:42047048G>A	ENST00000372584.1	-	3	4435	c.3421C>T	c.(3421-3423)Cca>Tca	p.P1141S	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1141S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1141S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1141S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1141					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)				GAGACTGGTGGGGGCAGGTAT	0.602													48	123					0	0	0	0	A	42047048	G	A	42047048	3	1	119	1	0	0	0	0	1	0	0	0	7238	1232	43	4	3823	4	HIVEP3	1	42047048	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	7770656	42047048	207203573	8	22394											
HIVEP3	59269	broad.mit.edu	37	chr1	42047689	42047689	+	Frame_Shift_Del	DEL	G	G	-																															ggctcgggctgcgagacagaGgcacagaggactcgaagctg																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:42047689delG	ENST00000372584.1	-	3	3794	c.2780delC	c.(2779-2781)ctfs	p.P927fs	HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.P927fs|HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.P927fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.P927fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	927	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				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)				GCGAGACAGAGGCACAGAGGA	0.607													59	94	---	---	---	---					-	42047689	G	-	42047689	7	5	119	1	0	1	0	1	0	0	0	0	7238	1000	35	0	4464	0	HIVEP3	1	42047689	Frame_Shift_Del	DEL	G	TCGA-CN-A63U-01A-11D-A30E-08	641	42047689	207202932	9	22395											
ERMAP	114625	broad.mit.edu	37	chr1	43308322	43308322	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatttcgttgtcagcatcCtaggctctgagtacttcacg	7	15	9	10	2	3	2	2	2	1	0	5	2	4	2	1	1	2	4	1	1	2	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:43308322C>G	ENST00000328249.3	+	9	1615	c.577C>G	c.(577-579)Cta>Gta	p.L193V	ERMAP_ENST00000372514.3_Missense_Mutation_p.L283V|RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.4_ENST00000414798.1_RNA|ERMAP_ENST00000372517.2_Missense_Mutation_p.L283V|RP11-342M1.3_ENST00000444563.1_RNA|RP11-342M1.2_ENST00000416809.2_RNA|ERMAP_ENST00000487556.1_3'UTR			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	283			Missing (in Sc-3 allele).			integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGTCAGCATCCTAGGCTCTGA	0.498													72	74					0	0	0	0	G	43308322	C	G	43308322	3	3	119	1	0	0	0	0	1	0	0	0	5272	680	24	4	885	4	ERMAP	1	43308322	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1260633	43308322	205942299	10	22396											
IPO13	9670	broad.mit.edu	37	chr1	44415343	44415343	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagatcacccgctttgcCagtggctccaagattgtact	9	10	8	14	1	1	2	1	0	0	2	2	2	2	2	4	1	2	3	4	1	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:44415343C>T	ENST00000372343.3	+	2	1001	c.339C>T	c.(337-339)gcC>gcT	p.A113A		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	113					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCCGCTTTGCCAGTGGCTCCA	0.552													11	61					0	0	0	0	T	44415343	C	T	44415343	2	4	119	1	0	0	0	0	0	0	0	1	7847	581	21	4		4	IPO13	1	44415343	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1107021	44415343	204835278	11	22397											
CYP4Z1	199974	broad.mit.edu	37	chr1	47548131	47548131	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagagtgttcggatgatgCtggtaagaggagaagagagc	12	8	17	4	1	0	5	0	2	0	4	1	9	0	6	0	3	2	3	0	3	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:47548131C>T	ENST00000334194.3	+	4	493	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	164						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCGGATGATGCTGGTAAGAGG	0.473													38	42					0	0	0	0	T	47548131	C	T	47548131	2	4	119	1	0	0	0	0	0	0	0	1	4226	796	28	4		4	CYP4Z1	1	47548131	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	3132788	47548131	201702490	12	22398											
PODN	127435	broad.mit.edu	37	chr1	53544461	53544461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcaccgcgacgccttcCgcaagctgcgcctgctgcgc	5	6	13	17	6	0	0	0	0	0	0	1	1	1	0	4	1	5	4	4	1	1	1	rs145236540		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:53544461C>A	ENST00000371500.3	+	10	1707	c.1366C>A	c.(1366-1368)Cgc>Agc	p.R456S	PODN_ENST00000395871.2_Missense_Mutation_p.R333S|PODN_ENST00000312553.5_Missense_Mutation_p.R475S|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	427					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	p.R475C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGACGCCTTCCGCAAGCTGCG	0.642													31	98					4.74835e-14	5.89873e-14	1	0	A	53544461	C	A	53544461	3	1	119	1	0	0	0	0	1	0	0	0	12250	652	23	3	1453	3	PODN	1	53544461	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	5996330	53544461	195706160	13	22399											
C1orf168	199920	broad.mit.edu	37	chr1	57252860	57252860	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttacctctctggagacAgggagccctcttccacagtc	8	10	9	14	0	2	1	0	0	2	1	5	3	3	2	3	2	3	1	3	2	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:57252860A>C	ENST00000343433.6	-	4	1021	c.941T>G	c.(940-942)cTg>cGg	p.L314R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	314										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						CTCTGGAGACAGGGAGCCCTC	0.488													27	75					0	0	0	0	C	57252860	A	C	57252860	3	2	119	1	0	0	0	0	1	0	0	0	2031	188	7	5	1313	5	C1orf168	1	57252860	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	3708399	57252860	191997761	14	22400											
INADL	10207	broad.mit.edu	37	chr1	62393502	62393502	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagatgcctttaccgaccGtgagtgccttttcactattt	9	14	8	10	2	1	3	1	1	0	2	1	4	1	3	4	0	3	0	4	0	3	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:62393502G>T	ENST00000371158.2	+	27	3784		c.e27+1		INADL_ENST00000316485.6_Splice_Site	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)						intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTTACCGACCGTGAGTGCCTT	0.383													20	41					8.10497e-08	9.08511e-08	1	0	T	62393502	G	T	62393502	5	4	119	1	0	0	0	0	0	0	1	0	7784	1159	40	3	3773	3	INADL	1	62393502	Splice_Site	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	5140642	62393502	186857119	15	22401											
SERBP1	26135	broad.mit.edu	37	chr1	67880980	67880980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacgttatatcatttgctgGcttccggaaatgatggtcca	10	13	10	8	2	1	2	1	1	0	1	3	3	3	3	2	3	1	3	2	3	3	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:67880980G>C	ENST00000370994.4	-	7	1090	c.976C>G	c.(976-978)Cca>Gca	p.P326A	SERBP1_ENST00000370990.5_Missense_Mutation_p.P341A|SERBP1_ENST00000361219.6_Missense_Mutation_p.P332A|SERBP1_ENST00000370995.2_Missense_Mutation_p.P347A	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	347					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						TCATTTGCTGGCTTCCGGAAA	0.468													41	62					0	0	0	0	C	67880980	G	C	67880980	3	2	119	1	0	0	0	0	1	0	0	0	14162	1203	42	4	195	4	SERBP1	1	67880980	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	5487478	67880980	181369641	16	22402											
C1orf173	127254	broad.mit.edu	37	chr1	75114977	75114977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaggtgtttatccataaGgctattatatgcagcaagta	13	12	9	7	0	0	0	0	0	0	0	1	0	1	0	2	2	3	5	2	2	7	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:75114977G>T	ENST00000326665.5	-	2	264	c.46C>A	c.(46-48)Ctt>Att	p.L16I		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	16										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						TTATCCATAAGGCTATTATAT	0.363													14	49					6.31663e-08	7.10252e-08	1	0	T	75114977	G	T	75114977	3	4	119	1	0	0	0	0	1	0	0	0	2033	1000	35	4	4598	4	C1orf173	1	75114977	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	7233997	75114977	174135644	17	22403											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77510209	77510209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctgcatctcctgagccaGgtgctgccccggctgaaggc	7	7	12	15	1	1	2	0	2	1	0	2	2	1	2	5	3	5	3	5	3	2	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:77510209G>T	ENST00000477717.1	+	3	817	c.582G>T	c.(580-582)caG>caT	p.Q194H		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	194					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TCCTGAGCCAGGTGCTGCCCC	0.582													47	134					2.24722e-20	3.05977e-20	1	0	T	77510209	G	T	77510209	3	4	119	1	0	0	0	0	1	0	0	0	15317	991	35	4	592	4	ST6GALNAC5	1	77510209	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2395232	77510209	171740412	18	22404											
AK5	26289	broad.mit.edu	37	chr1	77752771	77752771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagaagaccttacctcCactaaatggaggacagtcac	16	6	9	10	0	1	2	1	0	0	2	2	5	2	5	3	3	1	0	3	3	6	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:77752771C>A	ENST00000344720.5	+	2	1154	c.128C>A	c.(127-129)cCa>cAa	p.P43Q	AK5_ENST00000354567.2_Missense_Mutation_p.P69Q|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	69					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ACCTTACCTCCACTAAATGGA	0.358													25	56					5.45024e-15	6.93754e-15	1	0	A	77752771	C	A	77752771	3	1	119	1	0	0	0	0	1	0	0	0	443	594	21	4	212	4	AK5	1	77752771	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	242562	77752771	171497850	19	22405											
ELTD1	64123	broad.mit.edu	37	chr1	79392735	79392735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcagatgatgaaagcaaagGaccaatactcttataatata	18	10	7	6	0	2	3	1	2	1	1	2	4	2	4	1	1	2	1	1	1	8	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:79392735G>T	ENST00000370742.3	-	8	982	c.919C>A	c.(919-921)Cct>Act	p.P307T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	307					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAAAGCAAAGGACCAATACTC	0.294													15	21					7.93312e-07	8.74336e-07	1	0	T	79392735	G	T	79392735	3	4	119	1	0	0	0	0	1	0	0	0	5122	1174	41	2	1185	2	ELTD1	1	79392735	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1639964	79392735	169857886	20	22406											
ELTD1	64123	broad.mit.edu	37	chr1	79470766	79470766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtttaccttcacaaattGtgacaccatttcctgaaaat	12	15	4	10	0	1	2	1	2	0	0	2	2	2	2	3	0	1	1	3	0	4	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:79470766G>T	ENST00000370742.3	-	2	224	c.161C>A	c.(160-162)aCa>aAa	p.T54K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	54	EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCACAAATTGTGACACCATT	0.373													38	51					5.71845e-15	7.2534e-15	1	0	T	79470766	G	T	79470766	3	4	119	1	0	0	0	0	1	0	0	0	5122	1377	48	4	1967	4	ELTD1	1	79470766	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	78031	79470766	169779855	21	22407											
COL24A1	255631	broad.mit.edu	37	chr1	86590878	86590878	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccagttactctatcatCatgttgtgtgatattgtcag	10	15	8	8	0	4	2	3	1	1	1	4	2	4	2	1	0	1	2	1	0	3	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:86590878C>A	ENST00000370571.2	-	3	1507	c.1141G>T	c.(1141-1143)Gat>Tat	p.D381Y	COL24A1_ENST00000436319.1_Missense_Mutation_p.D381Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	381					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACTCTATCATCATGTTGTGTG	0.383													29	46					7.26314e-15	9.19659e-15	1	0	A	86590878	C	A	86590878	3	1	119	1	0	0	0	0	1	0	0	0	3713	826	29	2	4235	2	COL24A1	1	86590878	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	7120112	86590878	162659743	22	22408											
GBP5	115362	broad.mit.edu	37	chr1	89732735	89732735	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatctctcagagtccacActaagtctgggaagaagctc	14	8	9	10	0	3	3	1	0	2	3	6	4	4	4	1	1	1	1	1	1	4	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:89732735A>G	ENST00000343435.5	-	6	1066	c.530T>C	c.(529-531)gTg>gCg	p.V177A	GBP5_ENST00000370459.3_Missense_Mutation_p.V177A|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	177						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CAGAGTCCACACTAAGTCTGG	0.483													6	126					0	0	0	0	G	89732735	A	G	89732735	3	3	119	1	0	0	0	0	1	0	0	0	6326	159	6	5	1258	5	GBP5	1	89732735	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	3141857	89732735	159517886	23	22409											
SNX7	51375	broad.mit.edu	37	chr1	99157183	99157183	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggctttacataaatttttGaaccgaattgctgatcatcc	13	14	6	8	1	1	2	1	2	0	0	2	3	2	2	2	1	3	2	2	1	6	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:99157183G>C	ENST00000370189.5	+	5	739	c.375G>C	c.(373-375)ttG>ttC	p.L125F	SNX7_ENST00000306121.3_Missense_Mutation_p.L189F|SNX7_ENST00000529992.1_Intron			Q9UNH6	SNX7_HUMAN	sorting nexin 7	125	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		ATAAATTTTTGAACCGAATTG	0.338													12	25					0	0	0	0	C	99157183	G	C	99157183	3	2	119	1	0	0	0	0	1	0	0	0	14995	1281	45	2	581	2	SNX7	1	99157183	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	9424448	99157183	150093438	24	22410											
SNX7	51375	broad.mit.edu	37	chr1	99164286	99164286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgatgaaatgaaagaatAtggcccaattcatattctgt	14	15	7	5	0	2	4	1	3	1	1	2	4	2	4	1	1	0	0	1	1	6	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:99164286A>G	ENST00000370189.5	+	7	1035	c.671A>G	c.(670-672)tAt>tGt	p.Y224C	SNX7_ENST00000306121.3_Missense_Mutation_p.Y288C|SNX7_ENST00000529992.1_Missense_Mutation_p.Y233C			Q9UNH6	SNX7_HUMAN	sorting nexin 7	224					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		ATGAAAGAATATGGCCCAATT	0.348													17	17					0	0	0	0	G	99164286	A	G	99164286	3	3	119	1	0	0	0	0	1	0	0	0	14995	449	16	5	885	5	SNX7	1	99164286	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	7103	99164286	150086335	25	22411											
LPPR5	163404	broad.mit.edu	37	chr1	99418770	99418770	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgacatccaagtgctgtAtaattgggcttacacagggc	10	11	11	9	0	0	1	0	1	0	0	1	1	1	1	1	2	3	4	1	2	4	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:99418770A>G	ENST00000370188.3	-	3	837	c.477T>C	c.(475-477)taT>taC	p.Y159Y	LPPR5_ENST00000263177.4_Silent_p.Y159Y	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		159						integral to membrane	hydrolase activity										CAAGTGCTGTATAATTGGGCT	0.448													23	44					0	0	0	0	G	99418770	A	G	99418770	2	3	119	1	0	0	0	0	0	0	0	1	8992	456	16	5		5	LPPR5	1	99418770	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	254484	99418770	149831851	26	22412											
VCAM1	7412	broad.mit.edu	37	chr1	101196842	101196842	+	Frame_Shift_Del	DEL	C	C	-																															tgcaaggttcctagcgtgtaCccccttgaccggctggagat																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:101196842delC	ENST00000294728.2	+	6	1394	c.1293delC	c.(1291-1293)tafs	p.Y431fs	VCAM1_ENST00000370119.4_Frame_Shift_Del_p.Y369fs|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Frame_Shift_Del_p.Y339fs	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	431	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTAGCGTGTACCCCCTTGACC	0.463													32	54	---	---	---	---					-	101196842	C	-	101196842	7	5	119	1	0	1	0	1	0	0	0	0	17233	518	18	0	1315	0	VCAM1	1	101196842	Frame_Shift_Del	DEL	C	TCGA-CN-A63U-01A-11D-A30E-08	1778072	101196842	148053779	27	22413											
VAV3	10451	broad.mit.edu	37	chr1	108417604	108417604	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacgtctcacaacaggcCgtgagaaatgtccttatgtt	12	10	8	11	2	1	1	1	1	1	1	3	2	2	1	3	1	2	1	3	1	4	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:108417604C>A	ENST00000370056.4	-	2	514	c.240G>T	c.(238-240)acG>acT	p.T80T	VAV3_ENST00000371846.4_Silent_p.T15T|VAV3_ENST00000527011.1_Silent_p.T80T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	80	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CACAACAGGCCGTGAGAAATG	0.368													11	56					3.86212e-05	4.13676e-05	1	0	A	108417604	C	A	108417604	2	1	119	1	0	0	0	0	0	0	0	1	17229	639	23	3		3	VAV3	1	108417604	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	7220762	108417604	140833017	28	22414											
AMPD1	270	broad.mit.edu	37	chr1	115222283	115222283	+	Frame_Shift_Del	DEL	G	G	-																															gttaagcatctgatggacctGgaacttggaggagaggaact																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:115222283delG	ENST00000369538.3	-	6	948	c.901delC	c.(901-903)agfs	p.Q301fs	AMPD1_ENST00000353928.6_Frame_Shift_Del_p.Q272fs|AMPD1_ENST00000520113.2_Frame_Shift_Del_p.Q305fs	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	272					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	TGATGGACCTGGAACTTGGAG	0.413													22	89	---	---	---	---					-	115222283	G	-	115222283	7	5	119	1	0	1	0	1	0	0	0	0	585	1357	47	0	1469	0	AMPD1	1	115222283	Frame_Shift_Del	DEL	G	TCGA-CN-A63U-01A-11D-A30E-08	6804679	115222283	134028338	29	22415											
PPIAL4G	644591	broad.mit.edu	37	chr1	143767634	143767634	+	Frame_Shift_Del	DEL	C	C	-																															agatggacttgtcaccggtgCcattagggtgtgtgaagtca																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:143767634delC	ENST00000419275.1	-	1	247	c.215delG	c.(214-216)gcfs	p.G72fs		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	72	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						GTCACCGGTGCCATTAGGGTG	0.473													18	280	---	---	---	---					-	143767634	C	-	143767634	7	5	119	1	0	1	0	1	0	0	0	0	12394	739	26	0	283	0	PPIAL4G	1	143767634	Frame_Shift_Del	DEL	C	TCGA-CN-A63U-01A-11D-A30E-08	28545351	143767634	105482987	30	22416											
PPIAL4G	644591	broad.mit.edu	37	chr1	143767832	143767832	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacggtgatgtcaaaaaagAtgacggagttgaccatggct	13	8	13	7	3	1	4	1	3	0	1	1	6	1	5	1	3	0	2	1	3	3	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:143767832A>G	ENST00000419275.1	-	1	49	c.17T>C	c.(16-18)aTc>aCc	p.I6T		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	6				I -> V (in Ref. 2; AAI30379/AAI30377).	protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						GTCAAAAAAGATGACGGAGTT	0.478													5	181					0	0	0	0	G	143767832	A	G	143767832	3	3	119	1	0	0	0	0	1	0	0	0	12394	333	12	5	481	5	PPIAL4G	1	143767832	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	198	143767832	105482789	31	22417											
LINGO4	339398	broad.mit.edu	37	chr1	151774476	151774476	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagagatggccagaggtgGatctccagctccttgagctg	8	9	13	11	0	1	3	0	1	1	2	4	5	3	4	4	3	2	2	4	3	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:151774476G>T	ENST00000368820.3	-	2	1642	c.705C>A	c.(703-705)atC>atA	p.I235I		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	235						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCAGAGGTGGATCTCCAGCT	0.637													27	81					6.12954e-19	8.22199e-19	1	0	T	151774476	G	T	151774476	2	4	119	1	0	0	0	0	0	0	0	1	8872	1164	41	2		2	LINGO4	1	151774476	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	8006644	151774476	97476145	32	22418											
FLG	2312	broad.mit.edu	37	chr1	152277643	152277643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctcctgaacagatccaCgatggtttctggaagcagac	11	9	10	11	1	1	3	0	1	1	2	3	5	3	4	2	2	3	3	2	2	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:152277643C>T	ENST00000368799.1	-	3	9754	c.9719G>A	c.(9718-9720)cGt>cAt	p.R3240H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3240	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R3240H(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACAGATCCACGATGGTTTCT	0.587									Ichthyosis				163	274					0	0	0	0	T	152277643	C	T	152277643	3	4	119	1	0	0	0	0	1	0	0	0	5967	536	19	1	2470	1	FLG	1	152277643	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	503167	152277643	96972978	33	22419											
FLG2	388698	broad.mit.edu	37	chr1	152327245	152327245	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catagccagatgactgacttGagccagaaccatgttggcca	12	8	10	11	0	0	5	0	3	0	2	0	5	0	5	4	1	3	1	4	1	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:152327245G>C	ENST00000388718.5	-	3	3089	c.3017C>G	c.(3016-3018)tCa>tGa	p.S1006*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1006	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGACTTGAGCCAGAACC	0.483													203	259					0	0	0	0	C	152327245	G	C	152327245	4	2	119	1	0	0	0	0	0	1	0	0	5968	1294	45	2	4162	2	FLG2	1	152327245	Nonsense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	49602	152327245	96923376	34	22420											
PKLR	5313	broad.mit.edu	37	chr1	155271092	155271092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctccccttcttacctcctGgagccccaatcaggatggac	7	10	8	16	0	3	0	1	0	2	0	5	3	4	3	6	3	2	0	6	3	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:155271092G>A	ENST00000342741.4	-	1	133	c.95C>T	c.(94-96)cCa>cTa	p.P32L		NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	32					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTTACCTCCTGGAGCCCCAAT	0.502													38	35					0	0	0	0	A	155271092	G	A	155271092	3	1	119	1	0	0	0	0	1	0	0	0	12048	1348	47	4	1684	4	PKLR	1	155271092	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2943847	155271092	93979529	35	22421											
MSTO1	55154	broad.mit.edu	37	chr1	155582079	155582079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcggggaataataacctgggGcctgctacctggtccctacc	8	8	12	13	1	0	0	0	0	0	0	1	1	1	1	5	5	4	1	5	5	5	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:155582079G>T	ENST00000245564.2	+	8	809	c.785G>T	c.(784-786)gGc>gTc	p.G262V	MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000368341.4_Missense_Mutation_p.G227V	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	262					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					ATAACCTGGGGCCTGCTACCT	0.552													20	52					1.9806e-07	2.20643e-07	1	0	T	155582079	G	T	155582079	3	4	119	1	0	0	0	0	1	0	0	0	9964	1203	42	4	815	4	MSTO1	1	155582079	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	310987	155582079	93668542	36	22422											
CD1A	909	broad.mit.edu	37	chr1	158227272	158227272	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcctttacttcttctgatAggtcttgcgctttggttcag	4	18	10	9	1	4	1	1	1	3	0	4	1	4	1	1	2	3	2	1	2	2	8			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:158227272A>T	ENST00000289429.5	+	5	1478	c.945A>T	c.(943-945)atA>atT	p.I315I		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	315					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTCTTCTGATAGGTCTTGCGC	0.443													51	157					0	0	0	0	T	158227272	A	T	158227272	2	4	119	1	0	0	0	0	0	0	0	1	3003	410	15	5		5	CD1A	1	158227272	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	2645193	158227272	91023349	37	22423											
CD1E	913	broad.mit.edu	37	chr1	158324217	158324217	+	Frame_Shift_Del	DEL	T	T	-																															cagcagaggagcagctgtccTtccgcatgctccaaacttcc																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:158324217delT	ENST00000368160.3	+	2	109	c.109delT	c.(109-111)tcfs	p.F37fs	CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368167.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368161.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368165.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368155.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000434258.1_Frame_Shift_Del_p.F35fs|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368163.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Frame_Shift_Del_p.F37fs	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	37					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCAGCTGTCCTTCCGCATGCT	0.537													30	128	---	---	---	---					-	158324217	T	-	158324217	7	5	119	1	0	1	0	1	0	0	0	0	3007	1609	56	0	115	0	CD1E	1	158324217	Frame_Shift_Del	DEL	T	TCGA-CN-A63U-01A-11D-A30E-08	96945	158324217	90926404	38	22424											
MNDA	4332	broad.mit.edu	37	chr1	158817612	158817612	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatggcacaatatcaagtGtgagaaaggagataaacttc	19	8	9	5	0	1	2	1	1	0	2	2	4	1	2	0	2	1	1	0	2	8	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:158817612G>C	ENST00000368141.4	+	6	1343	c.1082G>C	c.(1081-1083)tGt>tCt	p.C361S		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	361	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AATATCAAGTGTGAGAAAGGA	0.428													44	79					0	0	0	0	C	158817612	G	C	158817612	3	2	119	1	0	0	0	0	1	0	0	0	9746	1377	48	4	1100	4	MNDA	1	158817612	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	493395	158817612	90433009	39	22425											
COPA	1314	broad.mit.edu	37	chr1	160276193	160276193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtccgcatctcgaagcaGgagattgcctgtgccagcat	10	8	12	11	2	1	2	0	0	1	2	3	4	2	2	3	1	4	3	3	1	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:160276193G>A	ENST00000241704.7	-	15	1622	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	COPA_ENST00000368069.3_Silent_p.L465L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	465					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTCGAAGCAGGAGATTGCCT	0.488													38	126					0	0	0	0	A	160276193	G	A	160276193	2	1	119	1	0	0	0	0	0	0	0	1	3757	991	35	4		4	COPA	1	160276193	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1458581	160276193	88974428	40	22426											
FCGR3A	2214	broad.mit.edu	37	chr1	161518319	161518319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcaatgaagtagctcgaggCctggcttgagatgaggctct	9	10	14	8	1	2	3	1	3	1	1	3	5	2	3	1	3	1	4	1	3	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:161518319C>T	ENST00000367969.3	-	3	502	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Missense_Mutation_p.A106T|FCGR3A_ENST00000540048.1_Missense_Mutation_p.A71T|FCGR3A_ENST00000436743.1_Missense_Mutation_p.A71T	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	71	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TAGCTCGAGGCCTGGCTTGAG	0.557													74	542					0	0	0	0	T	161518319	C	T	161518319	3	4	119	1	0	0	0	0	1	0	0	0	5829	739	26	4	565	4	FCGR3A	1	161518319	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1242126	161518319	87732302	41	22427											
FCGR3B	2215	broad.mit.edu	37	chr1	161599676	161599676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcaatgaagtagctcgaggCctggcttgagatgaggttct	9	11	14	7	1	2	3	1	3	1	1	3	5	2	3	1	3	1	4	1	3	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:161599676C>T	ENST00000294800.3	-	3	484	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.A107T|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.A71T|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	71	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TAGCTCGAGGCCTGGCTTGAG	0.542													67	107					0	0	0	0	T	161599676	C	T	161599676	3	4	119	1	0	0	0	0	1	0	0	0	5830	739	26	4	502	4	FCGR3B	1	161599676	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	81357	161599676	87650945	42	22428											
F5	2153	broad.mit.edu	37	chr1	169500098	169500098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctgatcgctcagtggCatgccatacgtaggtataac	9	10	11	11	2	1	1	1	1	0	0	2	1	1	1	2	3	3	4	2	3	4	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:169500098C>T	ENST00000367796.3	-	15	5350	c.5149G>A	c.(5149-5151)Gcc>Acc	p.A1717T	F5_ENST00000367797.3_Missense_Mutation_p.A1712T			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1712	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CGCTCAGTGGCATGCCATACG	0.458													94	81					0	0	0	0	T	169500098	C	T	169500098	3	4	119	1	0	0	0	0	1	0	0	0	5386	710	25	4	1584	4	F5	1	169500098	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	7900422	169500098	79750523	43	22429											
SELE	6401	broad.mit.edu	37	chr1	169696638	169696638	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcatgttgatctttccCggaactgccaggcttgaaca	9	11	9	12	1	2	2	1	2	1	0	3	3	3	3	2	2	4	3	2	2	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:169696638C>A	ENST00000333360.7	-	10	1636	c.1497G>T	c.(1495-1497)ccG>ccT	p.P499P	SELE_ENST00000367777.1_Silent_p.P436P|SELE_ENST00000367782.4_Silent_p.P436P|SELE_ENST00000367776.1_Silent_p.P436P|SELE_ENST00000367781.4_Silent_p.P436P|SELE_ENST00000367775.1_Silent_p.P374P|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Silent_p.P374P|SELE_ENST00000367774.1_Silent_p.P373P|SELE_ENST00000367779.4_Silent_p.P373P	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	499	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGATCTTTCCCGGAACTGCCA	0.483													13	65					4.3838e-07	4.86865e-07	1	0	A	169696638	C	A	169696638	2	1	119	1	0	0	0	0	0	0	0	1	14100	639	23	3		3	SELE	1	169696638	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	196540	169696638	79553983	44	22430											
DNM3	26052	broad.mit.edu	37	chr1	172356363	172356363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatctgctgagcaggctCagcgccgggatgagatgctt	9	8	15	9	2	2	2	1	2	1	1	2	5	2	4	1	3	4	4	1	3	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:172356363C>A	ENST00000358155.4	+	19	2325	c.2149C>A	c.(2149-2151)Cag>Aag	p.Q717K	DNM3_ENST00000367731.1_Missense_Mutation_p.Q713K|DNM3_ENST00000355305.5_Missense_Mutation_p.Q723K	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	723	GED.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGAGCAGGCTCAGCGCCGGGA	0.507													22	119					1.9806e-07	2.20643e-07	1	0	A	172356363	C	A	172356363	3	1	119	1	0	0	0	0	1	0	0	0	4709	827	29	2	2223	2	DNM3	1	172356363	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2659725	172356363	76894258	45	22431											
PAPPA2	60676	broad.mit.edu	37	chr1	176526072	176526072	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgccaagtgtggaagaggcGggcggaagatgggcagggag	10	4	21	6	3	0	2	0	0	0	2	1	5	0	5	1	6	0	1	1	6	3	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:176526072G>C	ENST00000367662.3	+	2	1778	c.614G>C	c.(613-615)cGg>cCg	p.R205P	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R205P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	205					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R205P(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGAAGAGGCGGGCGGAAGAT	0.562													40	143					0	0	0	0	C	176526072	G	C	176526072	3	2	119	1	0	0	0	0	1	0	0	0	11504	1116	39	3	616	3	PAPPA2	1	176526072	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	4169709	176526072	72724549	46	22432											
ASTN1	460	broad.mit.edu	37	chr1	176852072	176852072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccggcacctgagatggCattgcacaaggagactttgc	9	10	12	10	1	0	2	0	1	0	2	1	4	1	2	2	3	2	3	2	3	1	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:176852072C>A	ENST00000367654.2	-	20	3322	c.3309G>T	c.(3307-3309)atG>atT	p.M1103I	ASTN1_ENST00000424564.2_Missense_Mutation_p.M1095I|ASTN1_ENST00000361833.2_Missense_Mutation_p.M1095I|ASTN1_ENST00000367657.3_Missense_Mutation_p.M1095I			O14525	ASTN1_HUMAN	astrotactin 1	1103	Fibronectin type-III 1.				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						CCTGAGATGGCATTGCACAAG	0.488													15	79					0.000422831	0.000444989	1	0	A	176852072	C	A	176852072	3	1	119	1	0	0	0	0	1	0	0	0	1068	710	25	4	619	4	ASTN1	1	176852072	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	326000	176852072	72398549	47	22433											
CEP350	9857	broad.mit.edu	37	chr1	180047719	180047719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatccgagtctataggacaGgagcagccagggagtccaga	12	5	13	11	1	1	1	0	0	1	1	3	5	3	4	4	3	2	1	4	3	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:180047719G>T	ENST00000367607.3	+	29	6307	c.5889G>T	c.(5887-5889)caG>caT	p.Q1963H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1963						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTATAGGACAGGAGCAGCCAG	0.423													9	40					5.4927e-09	6.27366e-09	1	0	T	180047719	G	T	180047719	3	4	119	1	0	0	0	0	1	0	0	0	3283	991	35	4	5999	4	CEP350	1	180047719	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3195647	180047719	69202902	48	22434											
GLUL	2752	broad.mit.edu	37	chr1	182355445	182355445	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaggggtgcccatctgtccCcatgagggtatactcctgct	8	10	11	12	0	1	1	0	1	1	0	3	1	3	1	4	3	3	2	4	3	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:182355445C>A	ENST00000311223.5	-	5	1317	c.421G>T	c.(421-423)Ggg>Tgg	p.G141W	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Missense_Mutation_p.G141W|GLUL_ENST00000331872.6_Missense_Mutation_p.G141W|GLUL_ENST00000417584.2_Missense_Mutation_p.G141W	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	141					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	CCATCTGTCCCCATGAGGGTA	0.527													43	233					2.26627e-22	3.14494e-22	1	0	A	182355445	C	A	182355445	3	1	119	1	0	0	0	0	1	0	0	0	6529	623	22	4	716	4	GLUL	1	182355445	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2307726	182355445	66895176	49	22435											
RNASEL	6041	broad.mit.edu	37	chr1	182555531	182555531	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaattttagggctttgacCttaccatacacagcggcttc	10	12	9	10	1	0	1	0	1	0	0	1	2	0	2	2	3	3	2	2	3	4	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:182555531C>T	ENST00000367559.3	-	2	664	c.411G>A	c.(409-411)aaG>aaA	p.K137K	RNASEL_ENST00000539397.1_Silent_p.K137K|RNASEL_ENST00000444138.1_Silent_p.K137K	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	137					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GGGCTTTGACCTTACCATACA	0.458													34	22					0	0	0	0	T	182555531	C	T	182555531	2	4	119	1	0	0	0	0	0	0	0	1	13501	680	24	4		4	RNASEL	1	182555531	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	200086	182555531	66695090	50	22436											
KCNT2	343450	broad.mit.edu	37	chr1	196397339	196397339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcagtttgagctctatGtcgactatagtttcctcctg	6	18	7	10	1	2	1	1	1	1	0	5	2	4	1	2	0	1	3	2	0	3	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:196397339G>T	ENST00000367433.5	-	10	981	c.880C>A	c.(880-882)Cat>Aat	p.H294N	KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.H294N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.H294N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	294						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGAGCTCTATGTCGACTATAG	0.368													48	29					1.22102e-19	1.65008e-19	1	0	T	196397339	G	T	196397339	3	4	119	1	0	0	0	0	1	0	0	0	8145	1377	48	4	2603	4	KCNT2	1	196397339	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	13841808	196397339	52853282	51	22437											
F13B	2165	broad.mit.edu	37	chr1	197029575	197029575	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttagataataattttcAtgacagaaaaactgaacgac	18	10	5	8	1	1	4	1	2	0	2	1	5	1	4	1	0	2	0	1	0	6	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:197029575A>G	ENST00000367412.1	-	5	769	c.726T>C	c.(724-726)caT>caC	p.H242H		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	242	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AATAATTTTCATGACAGAAAA	0.303													16	67					0	0	0	0	G	197029575	A	G	197029575	2	3	119	1	0	0	0	0	0	0	0	1	5379	214	8	5		5	F13B	1	197029575	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	632236	197029575	52221046	52	22438											
CRB1	23418	broad.mit.edu	37	chr1	197403841	197403841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttctctcattaggtattGcaaatgctgtttttaatgga	10	17	7	7	0	2	0	1	0	1	0	3	1	2	1	1	2	2	4	1	2	4	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:197403841G>A	ENST00000367397.1	+	5	1849	c.991G>A	c.(991-993)Gca>Aca	p.A331T	CRB1_ENST00000535699.1_Missense_Mutation_p.A926T|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.A950T|CRB1_ENST00000367399.2_Missense_Mutation_p.A838T|CRB1_ENST00000544212.1_Missense_Mutation_p.A431T			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	950	EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATTAGGTATTGCAAATGCTGT	0.294													44	35					0	0	0	0	A	197403841	G	A	197403841	3	1	119	1	0	0	0	0	1	0	0	0	3878	1319	46	4	2882	4	CRB1	1	197403841	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	374266	197403841	51846780	53	22439											
ANGEL2	90806	broad.mit.edu	37	chr1	213181682	213181682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttgtgaaagtatattatagGacatcactgaaaagtcaaac	17	11	7	6	0	2	2	2	2	0	0	2	3	2	3	0	1	1	1	0	1	8	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:213181682G>A	ENST00000366962.3	-	3	666	c.512C>T	c.(511-513)tCc>tTc	p.S171F	ANGEL2_ENST00000360506.2_Missense_Mutation_p.S2F|ANGEL2_ENST00000535388.1_Missense_Mutation_p.S2F|ANGEL2_ENST00000540642.1_Missense_Mutation_p.S45F|ANGEL2_ENST00000544555.1_Missense_Mutation_p.S2F	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	171										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TATATTATAGGACATCACTGA	0.363													16	98					0	0	0	0	A	213181682	G	A	213181682	3	1	119	1	0	0	0	0	1	0	0	0	609	1174	41	2	1150	2	ANGEL2	1	213181682	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	15777841	213181682	36068939	54	22440											
PTPN14	5784	broad.mit.edu	37	chr1	214556821	214556821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacagccggcgggtcagtccGagacatgctgatggccttgg	7	7	16	11	3	1	2	1	1	0	1	2	4	2	2	3	4	2	1	3	4	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:214556821G>A	ENST00000366956.5	-	13	2571	c.2377C>T	c.(2377-2379)Cgg>Tgg	p.R793W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	793					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGGTCAGTCCGAGACATGCTG	0.632													20	97					0	0	0	0	A	214556821	G	A	214556821	3	1	119	1	0	0	0	0	1	0	0	0	12863	1057	37	1	1214	1	PTPN14	1	214556821	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1375139	214556821	34693800	55	22441											
USH2A	7399	broad.mit.edu	37	chr1	216052140	216052140	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggcttggatggtggttGccaagaaatcacaacatatg	12	12	11	6	0	1	1	1	0	0	1	1	2	1	2	1	4	2	2	1	4	4	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:216052140G>A	ENST00000366943.2	-	42	8910	c.8524C>T	c.(8524-8526)Caa>Taa	p.Q2842*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q2842*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2842	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATGGTGGTTGCCAAGAAATC	0.423										HNSCC(13;0.011)			9	45					0	0	0	0	A	216052140	G	A	216052140	4	1	119	1	0	0	0	0	0	1	0	0	17132	1328	46	4	7208	4	USH2A	1	216052140	Nonsense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1495319	216052140	33198481	56	22442											
USH2A	7399	broad.mit.edu	37	chr1	216219844	216219844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtataaacagtactgagttAtaataccatttgcctttttg	12	17	6	6	0	0	1	0	1	0	0	0	1	0	1	2	0	4	3	2	0	7	9			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:216219844A>G	ENST00000366943.2	-	32	6640	c.6254T>C	c.(6253-6255)aTa>aCa	p.I2085T	USH2A_ENST00000307340.3_Missense_Mutation_p.I2085T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2085	Fibronectin type-III 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTACTGAGTTATAATACCATT	0.468										HNSCC(13;0.011)			59	32					0	0	0	0	G	216219844	A	G	216219844	3	3	119	1	0	0	0	0	1	0	0	0	17132	449	16	5	9518	5	USH2A	1	216219844	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	167704	216219844	33030777	57	22443											
SPATA17	128153	broad.mit.edu	37	chr1	217947767	217947767	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttaacacaccgaagacCtaaagttaagcagaaggact	16	7	8	10	1	0	2	0	0	0	2	0	4	0	3	3	1	2	2	3	1	6	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:217947767C>G	ENST00000366933.4	+	7	666	c.611C>G	c.(610-612)cCt>cGt	p.P204R		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	204						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CACCGAAGACCTAAAGTTAAG	0.438													56	48					0	0	0	0	G	217947767	C	G	217947767	3	3	119	1	0	0	0	0	1	0	0	0	15092	681	24	4	637	4	SPATA17	1	217947767	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1727923	217947767	31302854	58	22444											
SLC30A10	55532	broad.mit.edu	37	chr1	220091721	220091721	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtcaggctggggtcaatGtaacactgccagttacacgg	11	8	12	10	1	2	0	2	0	0	0	2	0	2	0	1	4	3	3	1	4	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:220091721G>T	ENST00000366926.3	-	3	995	c.834C>A	c.(832-834)taC>taA	p.Y278*	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Nonsense_Mutation_p.Y33*	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	278					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TGGGGTCAATGTAACACTGCC	0.527													22	141					5.26018e-13	6.42417e-13	1	0	T	220091721	G	T	220091721	4	4	119	1	0	0	0	0	0	1	0	0	14642	1372	48	4	631	4	SLC30A10	1	220091721	Nonsense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2143954	220091721	29158900	59	22445											
HLX	3142	broad.mit.edu	37	chr1	221053746	221053746	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaattgaccgcattttaTctgcagaatttgacccaaaa	13	13	7	8	1	1	3	0	2	1	1	1	4	1	4	2	1	1	2	2	1	5	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:221053746T>C	ENST00000366903.6	+	1	2048	c.547T>C	c.(547-549)Tct>Cct	p.S183P		NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	183					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CCGCATTTTATCTGCAGAATT	0.602													76	36					0	0	0	0	C	221053746	T	C	221053746	3	2	119	1	0	0	0	0	1	0	0	0	7266	1435	50	5	549	5	HLX	1	221053746	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	962025	221053746	28196875	60	22446											
PARP1	142	broad.mit.edu	37	chr1	226578208	226578208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgactcgcactgtactcggGccggaaacccagctcctccc	7	7	9	18	3	0	1	0	1	0	0	4	2	2	2	4	2	3	3	4	2	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:226578208G>T	ENST00000366794.5	-	4	663	c.520C>A	c.(520-522)Ccc>Acc	p.P174T		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	174					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTGTACTCGGGCCGGAAACCC	0.562								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					56	47					5.73376e-24	8.03393e-24	1	0	T	226578208	G	T	226578208	3	4	119	1	0	0	0	0	1	0	0	0	11525	1203	42	4	2604	4	PARP1	1	226578208	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	5524462	226578208	22672413	61	22447											
TRIM17	51127	broad.mit.edu	37	chr1	228602428	228602428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgcacaccacacagatggGgctctggtccttctggcaga	8	8	11	14	0	2	2	0	0	2	2	3	2	3	2	3	4	1	3	3	4	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:228602428G>T	ENST00000366697.2	-	1	1302	c.346C>A	c.(346-348)Ccc>Acc	p.P116T	TRIM17_ENST00000366698.2_Missense_Mutation_p.P116T|TRIM17_ENST00000456946.2_Missense_Mutation_p.P116T|TRIM17_ENST00000295033.3_Missense_Mutation_p.P116T			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	116					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				ACACAGATGGGGCTCTGGTCC	0.657													17	152					3.99206e-14	4.9849e-14	1	0	T	228602428	G	T	228602428	3	4	119	1	0	0	0	0	1	0	0	0	16588	1232	43	4	1260	4	TRIM17	1	228602428	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2024220	228602428	20648193	62	22448											
URB2	9816	broad.mit.edu	37	chr1	229770836	229770836	+	Frame_Shift_Del	DEL	G	G	-																															gctttgctggtcggcctgcaGgcagcccgaaggagctgtgg																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:229770836delG	ENST00000258243.2	+	4	612	c.476delG	c.(475-477)agfs	p.R159fs		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	159						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCGGCCTGCAGGCAGCCCGAA	0.592													17	71	---	---	---	---					-	229770836	G	-	229770836	7	5	119	1	0	1	0	1	0	0	0	0	17121	1000	35	0	486	0	URB2	1	229770836	Frame_Shift_Del	DEL	G	TCGA-CN-A63U-01A-11D-A30E-08	1168408	229770836	19479785	63	22449											
URB2	9816	broad.mit.edu	37	chr1	229771138	229771138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctacaaggaggggctcttgGaccagcagcaaggggatgtg	10	6	16	9	0	1	0	0	0	1	0	1	3	1	3	2	6	3	3	2	6	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:229771138G>T	ENST00000258243.2	+	4	914	c.778G>T	c.(778-780)Gac>Tac	p.D260Y		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	260						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGGGCTCTTGGACCAGCAGCA	0.567													6	88					0.0215528	0.0218244	1	0	T	229771138	G	T	229771138	3	4	119	1	0	0	0	0	1	0	0	0	17121	1174	41	2	788	2	URB2	1	229771138	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	302	229771138	19479483	64	22450											
CAPN9	10753	broad.mit.edu	37	chr1	230903329	230903329	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgaagggaggcagcgccatCgaggccatggaagacttcac	11	5	14	11	2	1	2	1	1	0	1	2	5	1	4	2	4	1	1	2	4	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:230903329C>G	ENST00000354537.1	+	5	661	c.579C>G	c.(577-579)atC>atG	p.I193M	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.I193M|CAPN9_ENST00000366666.2_Missense_Mutation_p.I130M	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	193	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCAGCGCCATCGAGGCCATGG	0.557													20	113					0	0	0	0	G	230903329	C	G	230903329	3	3	119	1	0	0	0	0	1	0	0	0	2657	874	31	3	597	3	CAPN9	1	230903329	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1132191	230903329	18347292	65	22451											
RYR2	6262	broad.mit.edu	37	chr1	237789017	237789017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtgatttaacaattagaGggcgtctgctatccctggta	11	12	10	8	1	1	2	0	1	1	1	2	2	2	2	1	2	2	2	1	2	5	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:237789017G>T	ENST00000366574.2	+	40	6396	c.6079G>T	c.(6079-6081)Ggg>Tgg	p.G2027W	RYR2_ENST00000360064.6_Missense_Mutation_p.G2025W|RYR2_ENST00000542537.1_Missense_Mutation_p.G2011W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2027	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACAATTAGAGGGCGTCTGCT	0.383													13	84					0.00136819	0.00142537	1	0	T	237789017	G	T	237789017	3	4	119	1	0	0	0	0	1	0	0	0	13854	1000	35	4	6237	4	RYR2	1	237789017	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	6885688	237789017	11461604	66	22452											
RGS7	6000	broad.mit.edu	37	chr1	240990451	240990451	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttcttaatgtccacttCagttgtatttacacatccag	10	16	5	10	0	2	1	1	1	1	0	4	1	4	1	2	0	1	2	2	0	3	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:240990451C>A	ENST00000366565.1	-	10	1012	c.631G>T	c.(631-633)Gaa>Taa	p.E211*	RGS7_ENST00000366562.4_Nonsense_Mutation_p.E211*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.E211*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.E211*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.E127*|RGS7_ENST00000348120.2_Nonsense_Mutation_p.E158*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.E185*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.E211*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.E158*	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	211					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ATGTCCACTTCAGTTGTATTT	0.418													17	76					5.3912e-06	5.8791e-06	1	0	A	240990451	C	A	240990451	4	1	119	1	0	0	0	0	0	1	0	0	13393	835	29	2	868	2	RGS7	1	240990451	Nonsense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	3201434	240990451	8260170	67	22453											
AKT3	10000	broad.mit.edu	37	chr1	243801040	243801040	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatagtcaaaatcattcAttgtctgaaaaatacaaatt	19	13	3	6	0	5	1	4	1	1	0	5	1	5	1	0	0	1	0	0	0	8	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:243801040A>T	ENST00000366539.1	-	6	634	c.434T>A	c.(433-435)aTg>aAg	p.M145K	AKT3_ENST00000263826.5_Missense_Mutation_p.M145K|AKT3_ENST00000336199.5_Missense_Mutation_p.M145K|AKT3_ENST00000366540.1_Missense_Mutation_p.M145K			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	145					signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AAAATCATTCATTGTCTGAAA	0.279													20	15					0	0	0	0	T	243801040	A	T	243801040	3	4	119	1	0	0	0	0	1	0	0	0	481	217	8	5	1089	5	AKT3	1	243801040	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	2810589	243801040	5449581	68	22454											
ADSS	159	broad.mit.edu	37	chr1	244587320	244587320	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtccactccgagcagctttGgacgaataaactgggccaat	12	8	10	11	2	0	0	0	0	0	0	2	3	2	1	3	2	3	2	3	2	4	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:244587320G>C	ENST00000366535.3	-	6	832	c.516C>G	c.(514-516)tcC>tcG	p.S172S	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	172					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	GAGCAGCTTTGGACGAATAAA	0.418													13	41					0	0	0	0	C	244587320	G	C	244587320	2	2	119	1	0	0	0	0	0	0	0	1	347	1335	47	4		4	ADSS	1	244587320	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	786280	244587320	4663301	69	22455											
OR2G2	81470	broad.mit.edu	37	chr1	247752567	247752567	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggatcaaggaggtgaaaggGgcattaaagaaagttctagc	16	7	14	4	0	2	2	1	1	1	1	2	4	2	4	0	5	1	2	0	5	6	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:247752567G>C	ENST00000320065.1	+	1	906	c.906G>C	c.(904-906)ggG>ggC	p.G302G	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGGTGAAAGGGGCATTAAAGA	0.363													36	174					0	0	0	0	C	247752567	G	C	247752567	2	2	119	1	0	0	0	0	0	0	0	1	11069	1219	43	4		4	OR2G2	1	247752567	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3165247	247752567	1498054	70	22456											
OR13G1	441933	broad.mit.edu	37	chr1	247835613	247835613	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatagtaaagggtcaccActgtgagatgagatgagcat	15	8	13	5	0	1	4	1	3	0	3	1	7	1	4	1	1	1	2	1	1	4	2	rs139644316	by1000genomes	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:247835613A>T	ENST00000359688.2	-	1	752	c.731T>A	c.(730-732)gTg>gAg	p.V244E	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGGGTCACCACTGTGAGATG	0.448													43	81					0	0	0	0	T	247835613	A	T	247835613	3	4	119	1	0	0	0	0	1	0	0	0	11013	159	6	5	196	5	OR13G1	1	247835613	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	83046	247835613	1415008	71	22457											
OR14C36	127066	broad.mit.edu	37	chr1	248512662	248512662	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccttcagcaatgaggtcAtgattgttgtctctgctctg	8	14	9	10	0	4	2	2	2	2	0	5	2	4	2	1	1	2	3	1	1	1	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:248512662A>G	ENST00000317861.1	+	1	586	c.586A>G	c.(586-588)Atg>Gtg	p.M196V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CAATGAGGTCATGATTGTTGT	0.498													33	75					0	0	0	0	G	248512662	A	G	248512662	3	3	119	1	0	0	0	0	1	0	0	0	11017	217	8	5	588	5	OR14C36	1	248512662	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	677049	248512662	737959	72	22458											
OR2T2	401992	broad.mit.edu	37	chr1	248616210	248616210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagtcttctccatctttgtgGtggctataacagccaacttg	8	15	8	10	0	3	0	0	0	3	0	4	0	3	0	2	2	3	1	2	2	4	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:248616210G>C	ENST00000342927.3	+	1	134	c.112G>C	c.(112-114)Gtg>Ctg	p.V38L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCTTTGTGGTGGCTATAAC	0.527													105	228					0	0	0	0	C	248616210	G	C	248616210	3	2	119	1	0	0	0	0	1	0	0	0	11091	1261	44	4	114	4	OR2T2	1	248616210	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	103548	248616210	634411	73	22459											
OR2T10	127069	broad.mit.edu	37	chr1	248757051	248757051	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagtcaccacccagggTctggttggccagccgcatgc	10	6	12	13	1	2	0	1	0	1	0	2	1	2	0	4	3	2	2	4	3	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:248757051T>A	ENST00000330500.2	-	1	49	c.19A>T	c.(19-21)Acc>Tcc	p.T7S		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACCCAGGGTCTGGTTGGCC	0.463													39	25					0	0	0	0	A	248757051	T	A	248757051	3	1	119	1	0	0	0	0	1	0	0	0	11088	1667	58	5	922	5	OR2T10	1	248757051	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	140841	248757051	493570	74	22460											
PGBD2	267002	broad.mit.edu	37	chr1	249211348	249211348	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgggcattttgattttaAgtgggtacatctcttatcca	8	19	8	6	0	1	1	0	1	1	0	3	1	2	1	1	2	1	2	1	2	3	8			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:249211348A>C	ENST00000539153.1	+	4	811	c.556A>C	c.(556-558)Agt>Cgt	p.S186R	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.S189R|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	189										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTTGATTTTAAGTGGGTACAT	0.393													39	215					0	0	0	0	C	249211348	A	C	249211348	3	2	119	1	0	0	0	0	1	0	0	0	11853	72	3	5	571	5	PGBD2	1	249211348	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	454297	249211348	39273	75	22461											
RNF144A	9781	broad.mit.edu	37	chr2	7164499	7164499	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacggcgtttctcccacaGtgctgctttcaaaatggaag	9	11	9	12	2	3	0	2	0	1	0	4	1	3	1	1	2	2	3	1	2	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:7164499G>A	ENST00000320892.6	+	7	951		c.e7-1		RNF144A_ENST00000467276.1_Splice_Site	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A							Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TTCTCCCACAGTGCTGCTTTC	0.572													50	17					0	0	0	0	A	7164499	G	A	7164499	5	1	119	1	0	0	0	0	0	0	1	0	13530	1043	36	4	527	4	RNF144A	2	7164499	Splice_Site	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08		7164499	236034874	76	22462											
ROCK2	9475	broad.mit.edu	37	chr2	11337449	11337449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtcatctgcagttcaattCgaatctggctctcttcagct	8	15	7	11	1	6	0	3	0	3	0	8	1	6	0	0	1	2	4	0	1	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:11337449C>T	ENST00000315872.6	-	27	3753	c.3305G>A	c.(3304-3306)cGa>cAa	p.R1102Q	ROCK2_ENST00000401753.1_Missense_Mutation_p.R859Q	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1102					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAGTTCAATTCGAATCTGGCT	0.368													11	36					0	0	0	0	T	11337449	C	T	11337449	3	4	119	1	0	0	0	0	1	0	0	0	13603	884	31	1	889	1	ROCK2	2	11337449	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	4172950	11337449	231861924	77	22463											
TRIB2	28951	broad.mit.edu	37	chr2	12880894	12880894	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggacgtcaacatggaaGagaacttggaccctttcttt	10	11	10	10	2	2	1	1	0	1	1	2	5	2	4	2	3	3	0	2	3	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:12880894G>T	ENST00000155926.4	+	3	2425	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*	TRIB2_ENST00000381465.2_Nonsense_Mutation_p.E200*	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	336					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAACATGGAAGAGAACTTGGA	0.522													36	62					6.97489e-18	9.20227e-18	1	0	T	12880894	G	T	12880894	4	4	119	1	0	0	0	0	0	1	0	0	16578	943	33	2	1016	2	TRIB2	2	12880894	Nonsense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1543445	12880894	230318479	78	22464											
CAPN13	92291	broad.mit.edu	37	chr2	30966288	30966288	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaagattcggagcaagAactccgctgattttctccgt	10	11	10	10	3	2	3	1	1	1	2	5	5	3	5	2	2	2	2	2	2	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:30966288A>C	ENST00000295055.8	-	13	1582	c.1406T>G	c.(1405-1407)tTc>tGc	p.F469C	CAPN13_ENST00000534090.2_Missense_Mutation_p.F469C	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	469					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCGGAGCAAGAACTCCGCTGA	0.418													252	110					0	0	0	0	C	30966288	A	C	30966288	3	2	119	1	0	0	0	0	1	0	0	0	2651	246	9	5	643	5	CAPN13	2	30966288	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	18085394	30966288	212233085	79	22465											
ZFP36L2	678	broad.mit.edu	37	chr2	43452511	43452512	+	Frame_Shift_Ins	INS	-	-	C																															agttgatctgggagccgccgINSccccccttctgctgctgctg																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:43452511_43452512insC	ENST00000282388.3	-	2	724_725	c.431_432insG	c.(430-432)gggfs	p.G144fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	144	Poly-Gly.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGGAGCCGCCGCCCCCCTTCTG	0.639													33	15	---	---	---	---					C	43452512	-	C	43452511	7	5	119	1	0	1	1	0	0	0	0	0	17742	1074	38	0	1056	0	ZFP36L2	2	43452511	Frame_Shift_Ins	INS	-	TCGA-CN-A63U-01A-11D-A30E-08	12486223	43452511	199746862	80	22466											
DYNC2LI1	51626	broad.mit.edu	37	chr2	44021790	44021790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggatcatcctgtgagttGctgtttgggattattactgg	8	15	13	5	0	1	1	1	1	0	0	2	4	2	3	1	3	2	3	1	3	3	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:44021790G>A	ENST00000406852.3	+	6	605	c.515G>A	c.(514-516)tGc>tAc	p.C172Y	DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000605786.1_Intron|DYNC2LI1_ENST00000489222.2_Intron|DYNC2LI1_ENST00000443170.3_Intron|DYNC2LI1_ENST00000260605.8_Intron	NM_015522.3	NP_056337.1	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	0						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCTGTGAGTTGCTGTTTGGGA	0.338													33	43					0	0	0	0	A	44021790	G	A	44021790	3	1	119	1	0	0	0	0	1	0	0	0	4883	1319	46	4	537	4	DYNC2LI1	2	44021790	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	569279	44021790	199177583	81	22467											
TTC7A	57217	broad.mit.edu	37	chr2	47205965	47205965	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacgtcgaggcatctgaaagGctgtcacccgcttgactatg	9	9	11	12	3	2	2	1	2	1	0	3	3	2	2	1	2	0	3	1	2	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:47205965G>A	ENST00000263737.6	+	0	682				TTC7A_ENST00000394850.2_Missense_Mutation_p.G228D|TTC7A_ENST00000319190.5_Missense_Mutation_p.G228D|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.G194D			Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A								binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CATCTGAAAGGCTGTCACCCG	0.517													18	60					0	0	0	0	A	47205965	G	A	47205965	1	1	119	1	0	0	0	0	0	0	0	0	16808	1203	42	4		4	TTC7A	2	47205965	Translation_Start_Site	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3184175	47205965	195993408	82	22468											
MSH2	4436	broad.mit.edu	37	chr2	47707857	47707857	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtctgtgatcaaagttttggGattcatgttgcagagcttgc	8	15	12	6	0	3	2	2	1	1	1	3	3	3	3	0	1	3	4	0	1	1	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:47707857G>A	ENST00000406134.1	+	15	2543	c.2481G>A	c.(2479-2481)ggG>ggA	p.G827G	MSH2_ENST00000543555.1_Silent_p.G761G|MSH2_ENST00000233146.2_Silent_p.G827G			P43246	MSH2_HUMAN	mutS homolog 2	827					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGTTTTGGGATTCATGTTG	0.408			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				3	26					0	0	0	0	A	47707857	G	A	47707857	2	1	119	1	0	0	0	0	0	0	0	1	9940	1161	41	2		2	MSH2	2	47707857	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	501892	47707857	195491516	83	22469											
LHCGR	3973	broad.mit.edu	37	chr2	48914996	48914996	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctataaagttcagccCgacgtttacagcagccaaat	12	11	6	12	2	2	0	1	0	1	0	3	1	3	0	3	0	4	3	3	0	5	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:48914996C>G	ENST00000294954.7	-	11	1961	c.1940G>C	c.(1939-1941)cGg>cCg	p.R647P	LHCGR_ENST00000401907.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.R585P|LHCGR_ENST00000405626.1_Missense_Mutation_p.R620P|LHCGR_ENST00000403273.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	647					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAGTTCAGCCCGACGTTTACA	0.383													52	114					0	0	0	0	G	48914996	C	G	48914996	3	3	119	1	0	0	0	0	1	0	0	0	8816	652	23	3	163	3	LHCGR	2	48914996	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1207139	48914996	194284377	84	22470											
SERTAD2	9792	broad.mit.edu	37	chr2	64863928	64863928	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagacaccttggatggaccGtcacagggagacacgatttt	12	9	11	9	2	1	2	1	0	0	2	1	6	1	4	2	3	0	0	2	3	1	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:64863928G>A	ENST00000313349.3	-	2	375	c.78C>T	c.(76-78)gaC>gaT	p.D26D	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	26					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						TGGATGGACCGTCACAGGGAG	0.493													66	148					0	0	0	0	A	64863928	G	A	64863928	2	1	119	1	0	0	0	0	0	0	0	1	14208	1136	40	1		1	SERTAD2	2	64863928	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	15948932	64863928	178335445	85	22471											
REG1A	5967	broad.mit.edu	37	chr2	79348048	79348048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtttctgtctcagagcCaaggtaagatctcttttcca	9	15	8	9	0	3	3	1	1	3	2	6	3	4	3	2	1	1	2	2	1	2	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:79348048C>A	ENST00000233735.1	+	2	164	c.61C>A	c.(61-63)Caa>Aaa	p.Q21K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	21					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GTCTCAGAGCCAAGGTAAGAT	0.438													40	17					5.71845e-15	7.2534e-15	1	0	A	79348048	C	A	79348048	3	1	119	1	0	0	0	0	1	0	0	0	13292	595	21	4	63	4	REG1A	2	79348048	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	14484120	79348048	163851325	86	22472											
LRRTM1	347730	broad.mit.edu	37	chr2	80530257	80530257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcagggagatgaggcgcgGgaagtgggcgaagttcacct	9	6	19	7	3	1	2	1	1	0	1	1	5	1	3	1	4	1	2	1	4	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:80530257G>T	ENST00000295057.3	-	2	1344	c.688C>A	c.(688-690)Ccg>Acg	p.P230T	CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P230T|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	230						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ATGAGGCGCGGGAAGTGGGCG	0.582										HNSCC(69;0.2)			56	151					5.47352e-35	8.07624e-35	1	0	T	80530257	G	T	80530257	3	4	119	1	0	0	0	0	1	0	0	0	9103	1232	43	4	884	4	LRRTM1	2	80530257	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1182209	80530257	162669116	87	22473											
GNLY	10578	broad.mit.edu	37	chr2	85922485	85922485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagtactacgacctggCaagagcccacctgcgtgatg	9	7	11	14	2	0	3	0	2	0	1	0	4	0	3	4	1	4	2	4	1	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:85922485C>A	ENST00000409696.3	+	3	332	c.50C>A	c.(49-51)gCa>gAa	p.A17E	GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000524600.1_Missense_Mutation_p.A59E|GNLY_ENST00000263863.4_Missense_Mutation_p.A32E	NM_012483.2	NP_036615.2	P22749	GNLY_HUMAN	granulysin	32					cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						TACGACCTGGCAAGAGCCCAC	0.622													16	29					1.45105e-14	1.83091e-14	1	0	A	85922485	C	A	85922485	3	1	119	1	0	0	0	0	1	0	0	0	6590	710	25	4	112	4	GNLY	2	85922485	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	5392228	85922485	157276888	88	22474											
ST3GAL5	8869	broad.mit.edu	37	chr2	86071632	86071632	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgttttggctgcagtgggaTtttttctgccacctgcttcc	4	17	10	10	0	1	0	0	0	1	0	2	1	2	1	3	2	3	4	3	2	0	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:86071632T>C	ENST00000377332.3	-	6	1003	c.895A>G	c.(895-897)Atc>Gtc	p.I299V	ST3GAL5_ENST00000393805.1_Missense_Mutation_p.I271V|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.I276V	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	299					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						TGCAGTGGGATTTTTTCTGCC	0.458													14	96					0	0	0	0	C	86071632	T	C	86071632	3	2	119	1	0	0	0	0	1	0	0	0	15308	1493	52	5	369	5	ST3GAL5	2	86071632	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	149147	86071632	157127741	89	22475											
STARD7	56910	broad.mit.edu	37	chr2	96858995	96858995	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcacaggaaaatgggttacCcagtgaagaacctcggaacc	14	6	10	11	1	1	2	1	1	0	1	2	4	1	4	3	3	3	1	3	3	6	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:96858995C>T	ENST00000337288.5	-	4	1028	c.645G>A	c.(643-645)tgG>tgA	p.W215*	STARD7_ENST00000462501.1_Intron	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	215	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AATGGGTTACCCAGTGAAGAA	0.428													60	74					0	0	0	0	T	96858995	C	T	96858995	4	4	119	1	0	0	0	0	0	1	0	0	15352	624	22	4	487	4	STARD7	2	96858995	Nonsense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	10787363	96858995	146340378	90	22476											
CIAO1	9391	broad.mit.edu	37	chr2	96936884	96936884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctctggccacagcttgtgGggatgacgcgatccgcgtgt	5	9	16	11	4	1	1	0	1	1	0	2	3	2	2	2	4	1	2	2	4	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:96936884G>T	ENST00000488633.1	+	7	1034	c.815G>T	c.(814-816)gGg>gTg	p.G272V		NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	272					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						ACAGCTTGTGGGGATGACGCG	0.562													32	58					9.65963e-10	1.11564e-09	1	0	T	96936884	G	T	96936884	3	4	119	1	0	0	0	0	1	0	0	0	3447	1232	43	4	841	4	CIAO1	2	96936884	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	77889	96936884	146262489	91	22477											
MRPS9	64965	broad.mit.edu	37	chr2	105654564	105654564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaacatggcggcgccctGtgtgtcctacggcggagcag	7	7	15	12	4	0	0	0	0	0	0	1	1	1	1	2	4	4	2	2	4	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:105654564G>A	ENST00000258455.3	+	1	124	c.14G>A	c.(13-15)tGt>tAt	p.C5Y	AC010884.1_ENST00000456519.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	5					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCGGCGCCCTGTGTGTCCTAC	0.677													7	20					0	0	0	0	A	105654564	G	A	105654564	3	1	119	1	0	0	0	0	1	0	0	0	9919	1377	48	4	16	4	MRPS9	2	105654564	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	8717680	105654564	137544809	92	22478											
C2orf76	130355	broad.mit.edu	37	chr2	120097421	120097421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accttgctttagaaatacgaTaaattcctttacagtttggt	12	16	6	7	1	0	1	0	0	0	1	1	2	1	1	2	1	3	2	2	1	6	9			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:120097421T>C	ENST00000409466.2	-	3	636	c.115A>G	c.(115-117)Atc>Gtc	p.I39V	C2orf76_ENST00000409523.1_Missense_Mutation_p.I39V|C2orf76_ENST00000498049.1_5'UTR|C2orf76_ENST00000334816.7_Missense_Mutation_p.I39V|C2orf76_ENST00000409877.1_Missense_Mutation_p.I39V			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	39										large_intestine(1)|lung(3)|pancreas(1)	5						AGAAATACGATAAATTCCTTT	0.338													20	42					0	0	0	0	C	120097421	T	C	120097421	3	2	119	1	0	0	0	0	1	0	0	0	2213	1406	49	5	285	5	C2orf76	2	120097421	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	14442857	120097421	123101952	93	22479											
GLI2	2736	broad.mit.edu	37	chr2	121747727	121747727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtccagtcaggaaacaGcagaggctgtgcccaaggga	11	5	14	11	1	1	1	1	0	0	1	2	3	2	3	3	3	4	2	3	3	2	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:121747727G>C	ENST00000452319.1	+	14	4297	c.4237G>C	c.(4237-4239)Gca>Cca	p.A1413P	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.A1413P			P10070	GLI2_HUMAN	GLI family zinc finger 2	1413					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)				TCAGGAAACAGCAGAGGCTGT	0.687													20	40					0	0	0	0	C	121747727	G	C	121747727	3	2	119	1	0	0	0	0	1	0	0	0	6489	971	34	4	4287	4	GLI2	2	121747727	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1650306	121747727	121451646	94	22480											
PROC	5624	broad.mit.edu	37	chr2	128186316	128186316	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgggcatcctcggggacCggcaggatgcctgcgagggc	5	5	19	12	4	0	0	0	0	0	0	2	3	1	2	3	6	3	2	3	6	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:128186316C>A	ENST00000453608.2	+	8	1353	c.1345C>A	c.(1345-1347)Cgg>Agg	p.R449R	PROC_ENST00000422777.3_Silent_p.R394R|PROC_ENST00000234071.3_Silent_p.R394R|PROC_ENST00000409048.1_Silent_p.R428R			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	394	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CCTCGGGGACCGGCAGGATGC	0.637													64	127					1.20869e-33	1.76186e-33	1	0	A	128186316	C	A	128186316	2	1	119	1	0	0	0	0	0	0	0	1	12625	643	23	3		3	PROC	2	128186316	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	6438589	128186316	115013057	95	22481											
UGGT1	56886	broad.mit.edu	37	chr2	128890738	128890738	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaacaacctggaggttgaTagcagatataattcgtggcc	12	10	11	8	1	1	2	1	1	0	1	2	3	1	3	2	3	3	2	2	3	5	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:128890738T>C	ENST00000375990.3	+	14	1732	c.1329T>C	c.(1327-1329)gaT>gaC	p.D443D	UGGT1_ENST00000259253.6_Silent_p.D467D			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	467					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGAGGTTGATAGCAGATATA	0.378													77	128					0	0	0	0	C	128890738	T	C	128890738	2	2	119	1	0	0	0	0	0	0	0	1	17037	1403	49	5		5	UGGT1	2	128890738	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	704422	128890738	114308635	96	22482											
POTEF	728378	broad.mit.edu	37	chr2	130877898	130877898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaagcagtggcggcacCacttgcccatcttgctcctg	7	8	13	13	1	1	0	0	0	1	0	2	1	2	1	3	4	3	3	3	4	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:130877898C>A	ENST00000357462.5	-	1	284	c.191G>T	c.(190-192)tGg>tTg	p.W64L	POTEF_ENST00000361163.4_Missense_Mutation_p.W64L|POTEF_ENST00000360967.5_Missense_Mutation_p.W64L|POTEF_ENST00000409914.2_Missense_Mutation_p.W64L			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	64						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTGGCGGCACCACTTGCCCAT	0.597													165	264					1.31598e-77	1.99466e-77	1	0	A	130877898	C	A	130877898	3	1	119	1	0	0	0	0	1	0	0	0	12337	595	21	4	3096	4	POTEF	2	130877898	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1987160	130877898	112321475	97	22483											
GPR39	2863	broad.mit.edu	37	chr2	133175182	133175182	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagccaccggggtctCacttgcaaccgctccagcac	7	6	10	18	2	1	0	1	0	1	0	3	0	2	0	5	2	5	3	5	2	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:133175182C>A	ENST00000329321.3	+	1	1036	c.567C>A	c.(565-567)ctC>ctA	p.L189L		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	189						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCGGGGTCTCACTTGCAACC	0.627													36	49					2.09667e-21	2.871e-21	1	0	A	133175182	C	A	133175182	2	1	119	1	0	0	0	0	0	0	0	1	6742	813	29	2		2	GPR39	2	133175182	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2297284	133175182	110024191	98	22484											
R3HDM1	23518	broad.mit.edu	37	chr2	136399236	136399236	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatccaactgtcagcactcaTagttctctttcctttgatgg	8	16	6	11	0	3	1	2	1	1	0	6	1	5	1	2	1	2	2	2	1	3	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:136399236T>A	ENST00000264160.4	+	15	1720	c.1350T>A	c.(1348-1350)caT>caA	p.H450Q	R3HDM1_ENST00000409606.1_Missense_Mutation_p.H450Q|R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000410054.1_Missense_Mutation_p.H394Q|R3HDM1_ENST00000329971.3_Intron	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	450							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TCAGCACTCATAGTTCTCTTT	0.522													52	103					0	0	0	0	A	136399236	T	A	136399236	3	1	119	1	0	0	0	0	1	0	0	0	12969	1403	49	5	1400	5	R3HDM1	2	136399236	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	3224054	136399236	106800137	99	22485											
LRP1B	53353	broad.mit.edu	37	chr2	141208161	141208161	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcaggttcatcagatcCatcaccacagtcatccacgg	11	9	7	14	1	6	1	6	0	0	1	8	1	8	1	3	2	0	1	3	2	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:141208161C>A	ENST00000389484.3	-	63	11004	c.10033G>T	c.(10033-10035)Gga>Tga	p.G3345*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3345	LDL-receptor class A 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G3345R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCAGATCCATCACCACAG	0.348										TSP Lung(27;0.18)			16	35					1.55795e-14	1.96236e-14	1	0	A	141208161	C	A	141208161	4	1	119	1	0	0	0	0	0	1	0	0	9019	603	21	4	3882	4	LRP1B	2	141208161	Nonsense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	4808925	141208161	101991212	100	22486											
LRP1B	53353	broad.mit.edu	37	chr2	141267547	141267547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catctggacagtccctttcaCcatcacaaagccaatgtcgg	11	9	7	14	1	3	0	2	0	1	0	5	1	4	1	3	2	1	0	3	2	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:141267547C>A	ENST00000389484.3	-	52	9319	c.8348G>T	c.(8347-8349)gGt>gTt	p.G2783V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2783	LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCCTTTCACCATCACAAAG	0.532										TSP Lung(27;0.18)			32	100					4.90274e-10	5.67149e-10	1	0	A	141267547	C	A	141267547	3	1	119	1	0	0	0	0	1	0	0	0	9019	507	18	4	5611	4	LRP1B	2	141267547	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	59386	141267547	101931826	101	22487											
LRP1B	53353	broad.mit.edu	37	chr2	141751612	141751612	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctaggcagtcatcgtcgcCatcacatttccaccgagctt	8	11	8	14	3	3	0	2	0	1	0	6	1	4	0	3	1	1	2	3	1	1	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:141751612C>A	ENST00000389484.3	-	16	3567	c.2596G>T	c.(2596-2598)Ggc>Tgc	p.G866C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	866	LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCGTCGCCATCACATTTC	0.433										TSP Lung(27;0.18)			25	73					3.6726e-16	4.75859e-16	1	0	A	141751612	C	A	141751612	3	1	119	1	0	0	0	0	1	0	0	0	9019	594	21	4	11507	4	LRP1B	2	141751612	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	484065	141751612	101447761	102	22488											
LRP1B	53353	broad.mit.edu	37	chr2	141771282	141771282	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgatgcgacagtccgaaAgggtggttcaactctctccc	9	9	10	13	2	2	1	1	1	1	0	5	3	4	1	3	2	2	1	3	2	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:141771282A>G	ENST00000389484.3	-	14	3194	c.2223T>C	c.(2221-2223)ccT>ccC	p.P741P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	741					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGTCCGAAAGGGTGGTTCA	0.348										TSP Lung(27;0.18)			26	49					0	0	0	0	G	141771282	A	G	141771282	2	3	119	1	0	0	0	0	0	0	0	1	9019	59	3	5		5	LRP1B	2	141771282	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	19670	141771282	101428091	103	22489											
LRP1B	53353	broad.mit.edu	37	chr2	141986941	141986941	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagttgccattttacttcCattaagatagaaaacctcaa	15	13	5	8	0	1	3	1	0	0	3	2	3	2	3	3	0	3	1	3	0	7	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:141986941C>A	ENST00000389484.3	-	6	1632	c.661G>T	c.(661-663)Gga>Tga	p.G221*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	221					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTTACTTCCATTAAGATAG	0.289										TSP Lung(27;0.18)			20	35					3.99206e-14	4.9849e-14	1	0	A	141986941	C	A	141986941	4	1	119	1	0	0	0	0	0	1	0	0	9019	603	21	4	13482	4	LRP1B	2	141986941	Nonsense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	215659	141986941	101212432	104	22490											
ARHGAP15	55843	broad.mit.edu	37	chr2	143913225	143913225	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgggaaggtcactgaacctGtaagtcaaataccccaaata	15	8	8	10	1	2	1	2	1	0	0	3	2	2	2	3	2	2	1	3	2	7	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:143913225G>C	ENST00000409869.1	+	3	342		c.e3+1		ARHGAP15_ENST00000295095.6_Splice_Site			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15						regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CACTGAACCTGTAAGTCAAAT	0.383													19	43					0	0	0	0	C	143913225	G	C	143913225	5	2	119	1	0	0	0	0	0	0	1	0	868	1391	48	4	168	4	ARHGAP15	2	143913225	Splice_Site	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1926284	143913225	99286148	105	22491											
KCNJ3	3760	broad.mit.edu	37	chr2	155711766	155711766	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatggctggaggagcagctAggatggaagggaaccttcca	12	6	16	7	0	0	1	0	0	0	1	1	6	1	6	2	6	3	3	2	6	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:155711766A>G	ENST00000295101.2	+	3	1924	c.1447A>G	c.(1447-1449)Agg>Ggg	p.R483G		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	483					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGGAGCAGCTAGGATGGAAGG	0.413													9	17					0	0	0	0	G	155711766	A	G	155711766	3	3	119	1	0	0	0	0	1	0	0	0	8105	411	15	5	1457	5	KCNJ3	2	155711766	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	11798541	155711766	87487607	106	22492											
CYTIP	9595	broad.mit.edu	37	chr2	158287446	158287446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgaacatttccgaggagCaggcattctgattctggggc	10	10	13	8	1	2	2	0	2	2	0	3	4	3	3	1	4	2	2	1	4	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:158287446C>A	ENST00000264192.3	-	4	429	c.308G>T	c.(307-309)tGc>tTc	p.C103F	CYTIP_ENST00000497432.1_5'UTR|CYTIP_ENST00000540637.1_5'UTR	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	103	PDZ.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TTCCGAGGAGCAGGCATTCTG	0.378													7	13					0.00307968	0.00317181	1	0	A	158287446	C	A	158287446	3	1	119	1	0	0	0	0	1	0	0	0	4239	710	25	4	791	4	CYTIP	2	158287446	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2575680	158287446	84911927	107	22493											
SCN1A	6323	broad.mit.edu	37	chr2	166915161	166915161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagaggtggcactgaacCggaagatggccttcccttta	9	8	14	10	1	0	3	0	1	0	2	1	4	1	4	3	5	1	2	3	5	3	3	rs121917918		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:166915161C>T	ENST00000423058.2	-	2	319	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R101Q|SCN1A_ENST00000409050.1_Missense_Mutation_p.R101Q|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.R101Q|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	101			R -> Q (in SMEI; dbSNP:rs121917918).|R -> W (in SMEI; dbSNP:rs121917965).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGCACTGAACCGGAAGATGGC	0.358													13	36					0	0	0	0	T	166915161	C	T	166915161	3	4	119	1	0	0	0	0	1	0	0	0	14001	652	23	1	5827	1	SCN1A	2	166915161	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	8627715	166915161	76284212	108	22494											
SCN9A	6335	broad.mit.edu	37	chr2	167089972	167089972	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactaaagtaaccaaagaaaCctataaaaataacattttca	22	9	2	8	0	1	1	1	0	0	1	1	1	1	1	2	0	3	1	2	0	10	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:167089972C>T	ENST00000375387.4	-	21	4145	c.3804_splice	c.e21-1	p.V1269_splice	SCN9A_ENST00000409672.1_Splice_Site_p.V1257_splice|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Splice_Site_p.V1268_splice|SCN9A_ENST00000303354.6_Splice_Site_p.V1269_splice			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1268						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACCAAAGAAACCTATAAAAAT	0.358													11	15					0	0	0	0	T	167089972	C	T	167089972	5	4	119	1	0	0	0	0	0	0	1	0	14012	521	18	4	2192	4	SCN9A	2	167089972	Splice_Site	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	174811	167089972	76109401	109	22495											
SCN7A	6332	broad.mit.edu	37	chr2	167273409	167273409	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaataagtctactcccatGatactaaaaatcagccagat	17	9	5	10	0	2	2	1	1	1	1	3	2	3	2	2	0	3	1	2	0	7	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:167273409G>T	ENST00000409855.1	-	20	3348	c.3222C>A	c.(3220-3222)atC>atA	p.I1074I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1074					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTACTCCCATGATACTAAAAA	0.398													12	17					0.00185496	0.00192692	1	0	T	167273409	G	T	167273409	2	4	119	1	0	0	0	0	0	0	0	1	14010	1280	45	2		2	SCN7A	2	167273409	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	183437	167273409	75925964	110	22496											
XIRP2	129446	broad.mit.edu	37	chr2	167760064	167760064	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtgattatcagagaagTgagtgtcatcccagggacag	11	11	12	7	0	3	3	2	2	1	1	4	5	4	4	1	1	0	0	1	1	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:167760064T>A	ENST00000409195.1	+	2	161	c.72T>A	c.(70-72)agT>agA	p.S24R	XIRP2_ENST00000409756.2_Missense_Mutation_p.S24R|XIRP2_ENST00000409043.1_Missense_Mutation_p.S24R|XIRP2_ENST00000409728.1_Missense_Mutation_p.S24R|XIRP2_ENST00000420519.1_Missense_Mutation_p.S24R|XIRP2_ENST00000295237.9_Missense_Mutation_p.S24R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	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						ATCAGAGAAGTGAGTGTCATC	0.488													33	47					0	0	0	0	A	167760064	T	A	167760064	3	1	119	1	0	0	0	0	1	0	0	0	17526	1693	59	5	74	5	XIRP2	2	167760064	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	486655	167760064	75439309	111	22497											
XIRP2	129446	broad.mit.edu	37	chr2	168100146	168100146	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgttattagagatggttcGggccaaatgctggaaattaa	13	13	11	4	1	0	1	0	0	0	1	1	3	0	2	1	3	1	3	1	3	6	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:168100146G>T	ENST00000409195.1	+	9	2333	c.2244G>T	c.(2242-2244)tcG>tcT	p.S748S	XIRP2_ENST00000295237.9_Silent_p.S748S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.S526S|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	573					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						GAGATGGTTCGGGCCAAATGC	0.383													24	61					1.55469e-16	2.03263e-16	1	0	T	168100146	G	T	168100146	2	4	119	1	0	0	0	0	0	0	0	1	17526	1103	39	3		3	XIRP2	2	168100146	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	340082	168100146	75099227	112	22498											
XIRP2	129446	broad.mit.edu	37	chr2	168100279	168100279	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaaattaaagttgtcCgaggaatatccatggaagaa	17	9	9	6	1	1	2	1	0	0	2	3	5	3	4	2	2	0	1	2	2	7	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:168100279C>A	ENST00000409195.1	+	9	2466	c.2377C>A	c.(2377-2379)Cga>Aga	p.R793R	XIRP2_ENST00000295237.9_Silent_p.R793R|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.R571R|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	618					actin cytoskeleton organization	cell junction	actin binding	p.R793*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAGTTGTCCGAGGAATATC	0.403													32	63					2.85442e-18	3.80063e-18	1	0	A	168100279	C	A	168100279	2	1	119	1	0	0	0	0	0	0	0	1	17526	644	23	3		3	XIRP2	2	168100279	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	133	168100279	75099094	113	22499											
LRP2	4036	broad.mit.edu	37	chr2	170063263	170063263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatggtcacatctcttaGccagttgatattgtctctta	11	15	7	8	0	3	2	1	1	2	1	5	2	3	2	1	1	1	1	1	1	4	5	rs149367019	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:170063263G>A	ENST00000263816.3	-	39	7252	c.6967C>T	c.(6967-6969)Cta>Tta	p.L2323L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2323					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACATCTCTTAGCCAGTTGATA	0.463													33	53					0	0	0	0	A	170063263	G	A	170063263	2	1	119	1	0	0	0	0	0	0	0	1	9020	962	34	4		4	LRP2	2	170063263	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1962984	170063263	73136110	114	22500											
WIPF1	7456	broad.mit.edu	37	chr2	175427287	175427287	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaagatcacctcgggatGggagggagtggtggagcacc	10	5	18	8	1	1	1	1	0	0	1	2	5	1	5	2	6	1	2	2	6	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:175427287G>A	ENST00000392547.2	-	8	1599	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000392546.2_Silent_p.P500P|WIPF1_ENST00000272746.5_Silent_p.P500P|WIPF1_ENST00000359761.3_Silent_p.P500P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	500					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ACCTCGGGATGGGAGGGAGTG	0.478													9	13					0	0	0	0	A	175427287	G	A	175427287	2	1	119	1	0	0	0	0	0	0	0	1	17463	1335	47	4		4	WIPF1	2	175427287	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	5364024	175427287	67772086	115	22501											
EVX2	344191	broad.mit.edu	37	chr2	176946954	176946954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgcggccagctcgcaccgGcggggccgcgacacatagtt	6	4	15	16	7	0	0	0	0	0	0	1	1	0	0	4	4	1	3	4	4	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:176946954G>A	ENST00000308618.4	-	2	787	c.651C>T	c.(649-651)cgC>cgT	p.R217R		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	217						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCTCGCACCGGCGGGGCCGCG	0.657													15	12					0	0	0	0	A	176946954	G	A	176946954	2	1	119	1	0	0	0	0	0	0	0	1	5332	1190	42	4		4	EVX2	2	176946954	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1519667	176946954	66252419	116	22502											
TTN	7273	broad.mit.edu	37	chr2	179411937	179411937	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacccagtagccaatgatttTactgccaccatcgtggtagg	11	10	9	11	1	0	1	0	1	0	0	1	1	0	1	4	2	4	2	4	2	5	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:179411937T>C	ENST00000589042.1	-	340	94539	c.94315A>G	c.(94315-94317)Aaa>Gaa	p.K31439E	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K29798E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K22374E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K22499E|TTN_ENST00000342992.6_Missense_Mutation_p.K28871E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K22566E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29798	Fibronectin type-III 129.						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)			CCAATGATTTTACTGCCACCA	0.453													104	136					0	0	0	0	C	179411937	T	C	179411937	3	2	119	1	0	0	0	0	1	0	0	0	16831	1763	61	5	13756	5	TTN	2	179411937	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	2464983	179411937	63787436	117	22503											
TTN	7273	broad.mit.edu	37	chr2	179434884	179434884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcagatgctggtctttcCcatacaacaatcattgagtc	11	12	6	12	0	3	2	2	1	1	1	5	2	4	2	2	1	3	1	2	1	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:179434884C>A	ENST00000589042.1	-	326	76199	c.75975G>T	c.(75973-75975)tgG>tgT	p.W25325C	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W23684C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W16260C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W16385C|TTN_ENST00000342992.6_Missense_Mutation_p.W22757C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W16452C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23684	Ig-like 124.						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)			CTGGTCTTTCCCATACAACAA	0.428													40	45					4.00102e-26	5.62789e-26	1	0	A	179434884	C	A	179434884	3	1	119	1	0	0	0	0	1	0	0	0	16831	624	22	4	32152	4	TTN	2	179434884	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	22947	179434884	63764489	118	22504											
TTN	7273	broad.mit.edu	37	chr2	179437569	179437569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgcgcaggtcagcatcCagttcaatttctggaggcag	9	11	11	10	1	3	0	2	0	1	0	4	1	4	1	1	3	2	4	1	3	1	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:179437569C>T	ENST00000589042.1	-	326	73514	c.73290G>A	c.(73288-73290)ctG>ctA	p.L24430L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L22789L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L15365L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L15490L|TTN_ENST00000342992.6_Silent_p.L21862L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.L15557L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22789	Fibronectin type-III 77.						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)			GGTCAGCATCCAGTTCAATTT	0.522													25	53					0	0	0	0	T	179437569	C	T	179437569	2	4	119	1	0	0	0	0	0	0	0	1	16831	581	21	4		4	TTN	2	179437569	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2685	179437569	63761804	119	22505											
TTN	7273	broad.mit.edu	37	chr2	179529260	179529260	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacttctctgagagcctcCggcactttgaagatattaat	12	12	7	10	1	1	3	0	2	1	2	3	4	2	3	2	1	2	1	2	1	4	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:179529260C>T	ENST00000589042.1	-	168	36431	c.36207G>A	c.(36205-36207)ccG>ccA	p.P12069P	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10216	Ig-like 80.						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)			TGAGAGCCTCCGGCACTTTGA	0.383													75	77					0	0	0	0	T	179529260	C	T	179529260	2	4	119	1	0	0	0	0	0	0	0	1	16831	667	23	1		1	TTN	2	179529260	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	91691	179529260	63670113	120	22506											
SESTD1	91404	broad.mit.edu	37	chr2	180041225	180041225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attccactgtgattttctgcCatccacaatcacggtaaatc	11	13	5	12	1	2	1	1	1	1	0	5	1	4	1	3	1	1	1	3	1	3	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:180041225C>A	ENST00000428443.3	-	4	521	c.205G>T	c.(205-207)Ggc>Tgc	p.G69C	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	69	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GATTTTCTGCCATCCACAATC	0.348													10	35					2.17888e-05	2.34773e-05	1	0	A	180041225	C	A	180041225	3	1	119	1	0	0	0	0	1	0	0	0	14214	594	21	4	1945	4	SESTD1	2	180041225	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	511965	180041225	63158148	121	22507											
NEUROD1	4760	broad.mit.edu	37	chr2	182543549	182543549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaccttggggctgaggCtcgcccatcagcccactctc	6	7	13	15	1	2	1	1	1	1	0	4	3	2	3	3	5	1	2	3	5	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:182543549C>T	ENST00000295108.3	-	2	496	c.39G>A	c.(37-39)gaG>gaA	p.E13E	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	13					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGGGCTGAGGCTCGCCCATCA	0.517													5	55					0	0	0	0	T	182543549	C	T	182543549	2	4	119	1	0	0	0	0	0	0	0	1	10418	796	28	4		4	NEUROD1	2	182543549	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2502324	182543549	60655824	122	22508											
ZNF804A	91752	broad.mit.edu	37	chr2	185802584	185802584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaaaagaggcagattccacCccggatttgaaactttagaa	16	8	9	8	1	0	4	0	1	0	3	1	6	1	5	3	2	1	1	3	2	5	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:185802584C>A	ENST00000302277.6	+	4	3055	c.2461C>A	c.(2461-2463)Ccc>Acc	p.P821T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	821						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGATTCCACCCCGGATTTGA	0.388													21	43					8.10497e-08	9.08511e-08	1	0	A	185802584	C	A	185802584	3	1	119	1	0	0	0	0	1	0	0	0	18263	623	22	4	2475	4	ZNF804A	2	185802584	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	3259035	185802584	57396789	123	22509											
CALCRL	10203	broad.mit.edu	37	chr2	188223833	188223833	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggataatgtagaggagaTgggtatcagaactgatccag	14	9	13	5	0	1	4	1	1	0	3	2	6	2	5	1	3	1	2	1	3	4	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:188223833T>G	ENST00000409998.1	-	13	1647	c.866A>C	c.(865-867)cAt>cCt	p.H289P	CALCRL_ENST00000392370.3_Missense_Mutation_p.H289P|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.H289P|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	289						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GTAGAGGAGATGGGTATCAGA	0.303													73	117					0	0	0	0	G	188223833	T	G	188223833	3	3	119	1	0	0	0	0	1	0	0	0	2605	1464	51	5	535	5	CALCRL	2	188223833	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	2421249	188223833	54975540	124	22510											
PMS1	5378	broad.mit.edu	37	chr2	190719157	190719157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaaatgttgatacttcaGtcattccattccaaaatgat	14	15	4	8	0	3	2	3	2	0	0	5	2	5	2	2	0	1	1	2	0	4	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:190719157G>T	ENST00000441310.2	+	9	1392	c.1159G>T	c.(1159-1161)Gtc>Ttc	p.V387F	PMS1_ENST00000418224.3_Missense_Mutation_p.V211F|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.V211F|PMS1_ENST00000447232.2_Missense_Mutation_p.V387F|PMS1_ENST00000409823.3_Missense_Mutation_p.V348F	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	387					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGATACTTCAGTCATTCCATT	0.333			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					21	36					7.45023e-12	8.99251e-12	1	0	T	190719157	G	T	190719157	3	4	119	1	0	0	0	0	1	0	0	0	12214	1029	36	4	1189	4	PMS1	2	190719157	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2495324	190719157	52480216	125	22511											
CPO	130749	broad.mit.edu	37	chr2	207833012	207833012	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttggacagaaggcagcaaAtgcattgaaagcaaagtatg	17	7	12	5	0	0	2	0	1	0	1	0	3	0	3	0	2	3	6	0	2	5	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:207833012A>G	ENST00000272852.3	+	8	849	c.803A>G	c.(802-804)aAt>aGt	p.N268S		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	268					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		AAGGCAGCAAATGCATTGAAA	0.363													16	33					0	0	0	0	G	207833012	A	G	207833012	3	3	119	1	0	0	0	0	1	0	0	0	3850	101	4	5	833	5	CPO	2	207833012	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	17113855	207833012	35366361	126	22512											
IKZF2	22807	broad.mit.edu	37	chr2	213914594	213914594	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacactggttacagtggaaGgggcgttcacctgcagtaag	10	8	13	10	1	1	0	1	0	0	0	1	1	1	1	2	4	2	4	2	4	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:213914594G>A	ENST00000457361.1	-	5	585	c.417C>T	c.(415-417)ccC>ccT	p.P139P	IKZF2_ENST00000413091.3_Silent_p.P139P|IKZF2_ENST00000451136.2_Silent_p.P113P|IKZF2_ENST00000342002.2_Silent_p.P145P|IKZF2_ENST00000421754.2_Silent_p.P113P|IKZF2_ENST00000374319.4_Silent_p.P113P|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000434687.1_Silent_p.P139P	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TACAGTGGAAGGGGCGTTCAC	0.448													12	22					0	0	0	0	A	213914594	G	A	213914594	2	1	119	1	0	0	0	0	0	0	0	1	7668	987	35	4		4	IKZF2	2	213914594	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	6081582	213914594	29284779	127	22513											
CCDC140	151278	broad.mit.edu	37	chr2	223168728	223168728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaatgagtccaacacccGcgttcctcgagttttaaaag	11	10	9	11	4	0	1	0	1	0	0	3	3	2	1	3	0	2	2	3	0	4	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:223168728G>T	ENST00000295226.1	+	2	491	c.107G>T	c.(106-108)cGc>cTc	p.R36L		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	36								p.R36H(1)		endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAACACCCGCGTTCCTCGA	0.567													19	19					3.57192e-18	4.74724e-18	1	0	T	223168728	G	T	223168728	3	4	119	1	0	0	0	0	1	0	0	0	2799	1087	38	3	109	3	CCDC140	2	223168728	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	9254134	223168728	20030645	128	22514											
KCNE4	23704	broad.mit.edu	37	chr2	223917882	223917882	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggagagcgtggcgcccGcgctgtcctgcaccctctgt	4	8	14	15	4	1	1	0	0	1	1	2	2	2	1	3	2	3	3	3	2	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:223917882G>C	ENST00000281830.3	+	2	818	c.487G>C	c.(487-489)Gcg>Ccg	p.A163P	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.A112P			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	112						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGTGGCGCCCGCGCTGTCCTG	0.672													16	61					0	0	0	0	C	223917882	G	C	223917882	3	2	119	1	0	0	0	0	1	0	0	0	8078	1087	38	3	336	3	KCNE4	2	223917882	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	749154	223917882	19281491	129	22515											
COL4A4	1286	broad.mit.edu	37	chr2	227922252	227922252	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacctgggacacctggaaaCccagcatgtccctctctgcc	8	7	10	16	0	1	0	0	0	1	0	3	3	2	3	5	3	3	1	5	3	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:227922252C>T	ENST00000396625.3	-	29	2655	c.2448G>A	c.(2446-2448)ggG>ggA	p.G816G	COL4A4_ENST00000329662.7_Silent_p.G816G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	816	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CACCTGGAAACCCAGCATGTC	0.547													11	16					0	0	0	0	T	227922252	C	T	227922252	2	4	119	1	0	0	0	0	0	0	0	1	3723	494	18	4		4	COL4A4	2	227922252	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	4004370	227922252	15277121	130	22516											
COL4A3	1285	broad.mit.edu	37	chr2	228104886	228104886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggctttcctggaccccccGgttctcctggccagaaagga	7	8	12	14	1	1	1	0	0	1	1	3	3	2	3	6	5	0	2	6	5	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:228104886G>A	ENST00000396578.3	+	3	334	c.172G>A	c.(172-174)Ggt>Agt	p.G58S	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	58	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TGGACCCCCCGGTTCTCCTGG	0.522													3	10					0	0	0	0	A	228104886	G	A	228104886	3	1	119	1	0	0	0	0	1	0	0	0	3721	1116	39	1	182	1	COL4A3	2	228104886	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	182634	228104886	15094487	131	22517											
SLC19A3	80704	broad.mit.edu	37	chr2	228564092	228564092	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcggcggtgaccatcccAtagaagaactctacaacctg	11	7	10	13	3	1	3	0	1	1	2	3	3	2	3	3	3	3	0	3	3	5	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:228564092A>G	ENST00000258403.3	-	3	410	c.339T>C	c.(337-339)taT>taC	p.Y113Y	SLC19A3_ENST00000541617.1_Silent_p.Y109Y|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	113					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TGACCATCCCATAGAAGAACT	0.542													6	180					0	0	0	0	G	228564092	A	G	228564092	2	3	119	1	0	0	0	0	0	0	0	1	14518	224	8	5		5	SLC19A3	2	228564092	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	459206	228564092	14635281	132	22518											
PID1	55022	broad.mit.edu	37	chr2	229890361	229890361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttcattcagccatcatcgGattccaattcctgggaaacc	11	11	7	12	1	3	0	3	0	0	0	6	2	5	2	4	2	2	1	4	2	2	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:229890361G>T	ENST00000392054.3	-	4	1073	c.734C>A	c.(733-735)tCc>tAc	p.S245Y	PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.S165Y|PID1_ENST00000354069.6_Missense_Mutation_p.S247Y|PID1_ENST00000392055.3_Missense_Mutation_p.S214Y	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	247	PID.					cytoplasm		p.S245F(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GCCATCATCGGATTCCAATTC	0.498													41	70					4.67007e-22	6.44362e-22	1	0	T	229890361	G	T	229890361	3	4	119	1	0	0	0	0	1	0	0	0	11954	1174	41	2	16	2	PID1	2	229890361	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1326269	229890361	13309012	133	22519											
UGT1A4	54657	broad.mit.edu	37	chr2	234627556	234627556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggctgagagtggaaaGgtgttggtggtgcccactga	7	9	17	8	0	0	2	0	2	0	1	0	4	0	3	2	5	1	2	2	5	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:234627556G>T	ENST00000373409.3	+	1	133	c.90G>T	c.(88-90)aaG>aaT	p.K30N	UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		AGAGTGGAAAGGTGTTGGTGG	0.667													18	49					9.16793e-09	1.04384e-08	1	0	T	234627556	G	T	234627556	3	4	119	1	0	0	0	0	1	0	0	0	17043	991	35	4	92	4	UGT1A4	2	234627556	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	4737195	234627556	8571817	134	22520											
COL6A3	1293	broad.mit.edu	37	chr2	238287556	238287556	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgcggcacgtgttcAcggatcctgctgccgccagc	6	7	14	14	4	1	0	1	0	0	0	2	2	2	2	3	3	5	4	3	3	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:238287556A>G	ENST00000295550.4	-	6	2672	c.2220T>C	c.(2218-2220)cgT>cgC	p.R740R	COL6A3_ENST00000353578.4_Silent_p.R534R|COL6A3_ENST00000409809.1_Silent_p.R534R|COL6A3_ENST00000392003.2_Silent_p.R333R|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392004.3_Silent_p.R534R|COL6A3_ENST00000347401.3_Silent_p.R539R|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	740	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCACGTGTTCACGGATCCTGC	0.607													25	38					0	0	0	0	G	238287556	A	G	238287556	2	3	119	1	0	0	0	0	0	0	0	1	3731	146	6	5		5	COL6A3	2	238287556	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	3660000	238287556	4911817	135	22521											
ANO7	50636	broad.mit.edu	37	chr2	242135264	242135264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtgtgtagaccaggtaCgtggaggctgtcatgggcag	7	9	18	7	1	1	1	1	0	0	1	1	2	1	2	1	5	1	5	1	5	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:242135264C>T	ENST00000402530.3	+	4	575	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	ANO7_ENST00000274979.8_Intron|ANO7_ENST00000402430.3_Intron	NM_001001666.3	NP_001001666.1	Q6IWH7	ANO7_HUMAN	anoctamin 7	0						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AGACCAGGTACGTGGAGGCTG	0.617													37	59					0	0	0	0	T	242135264	C	T	242135264	3	4	119	1	0	0	0	0	1	0	0	0	701	536	19	1	489	1	ANO7	2	242135264	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	3847708	242135264	1064109	136	22522											
ITPR1	3708	broad.mit.edu	37	chr3	4774803	4774803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcaagttctggtcaaccGttactatggaaacgtcagac	12	9	10	10	2	3	1	2	0	1	1	3	2	3	2	1	3	3	3	1	3	5	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:4774803G>A	ENST00000302640.8	+	42	5557	c.5207G>A	c.(5206-5208)cGt>cAt	p.R1736H	ITPR1_ENST00000456211.2_Missense_Mutation_p.R1688H|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1703H|ITPR1_ENST00000443694.2_Missense_Mutation_p.R1736H|ITPR1_ENST00000354582.6_Missense_Mutation_p.R1736H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1703H	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1751					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGGTCAACCGTTACTATGGA	0.507													19	11					0	0	0	0	A	4774803	G	A	4774803	3	1	119	1	0	0	0	0	1	0	0	0	7973	1145	40	1	5414	1	ITPR1	3	4774803	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08		4774803	193247627	137	22523											
GRM7	2917	broad.mit.edu	37	chr3	7348258	7348258	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcagacagctggggaTccaaaataaacccactgcac	14	6	10	11	0	1	1	1	0	0	1	2	3	2	3	2	3	3	2	2	3	4	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:7348258T>G	ENST00000486284.1	+	4	1226	c.952T>G	c.(952-954)Tcc>Gcc	p.S318A	GRM7_ENST00000357716.4_Missense_Mutation_p.S318A|GRM7_ENST00000402647.2_Missense_Mutation_p.S318A|GRM7_ENST00000403881.1_Missense_Mutation_p.S318A|GRM7_ENST00000389336.4_Missense_Mutation_p.S318A	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	318					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			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)	CAGCTGGGGATCCAAAATAAA	0.498													26	33					0	0	0	0	G	7348258	T	G	7348258	3	3	119	1	0	0	0	0	1	0	0	0	6852	1435	50	5	966	5	GRM7	3	7348258	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	2573455	7348258	190674172	138	22524											
SETD5	55209	broad.mit.edu	37	chr3	9514922	9514922	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttttttcctttctaggtAtccctgctggagtaccgaaa	7	17	8	9	1	1	0	0	0	1	0	3	2	3	1	3	2	2	4	3	2	4	8			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:9514922A>T	ENST00000402466.1	+	21	3672	c.2904A>T	c.(2902-2904)gtA>gtT	p.V968V	SETD5_ENST00000406341.1_Silent_p.V1066V|SETD5_ENST00000402198.1_Silent_p.V1066V|SETD5_ENST00000407969.1_Silent_p.V1085V|SETD5_ENST00000302463.6_Silent_p.V968V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1066										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CTTTCTAGGTATCCCTGCTGG	0.448													18	15					0	0	0	0	T	9514922	A	T	9514922	2	4	119	1	0	0	0	0	0	0	0	1	14221	436	16	5		5	SETD5	3	9514922	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	2166664	9514922	188507508	139	22525											
KCNH8	131096	broad.mit.edu	37	chr3	19575380	19575380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcttctgtctgctcctcttCggaaacatctttgcacctag	7	15	6	13	1	5	0	0	0	5	0	7	1	6	1	2	1	3	2	2	1	2	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:19575380C>T	ENST00000328405.2	+	16	3379	c.3113C>T	c.(3112-3114)tCg>tTg	p.S1038L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1038	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGCTCCTCTTCGGAAACATCT	0.468													71	48					0	0	0	0	T	19575380	C	T	19575380	3	4	119	1	0	0	0	0	1	0	0	0	8091	893	31	1	3175	1	KCNH8	3	19575380	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	10060458	19575380	178447050	140	22526											
NEK10	152110	broad.mit.edu	37	chr3	27349396	27349396	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaatcatcaacagattttCtacaatgttgagttcactta	15	15	4	7	0	4	2	3	1	1	1	4	2	4	2	0	0	2	2	0	0	6	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:27349396C>G	ENST00000429845.2	-	12	1119	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	NEK10_ENST00000341435.5_Missense_Mutation_p.E253Q			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	253							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AACAGATTTTCTACAATGTTG	0.303													17	11					0	0	0	0	G	27349396	C	G	27349396	3	3	119	1	0	0	0	0	1	0	0	0	10392	922	32	2	1437	2	NEK10	3	27349396	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	7774016	27349396	170673034	141	22527											
CMTM7	112616	broad.mit.edu	37	chr3	32483410	32483410	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctacagctactttgaagtgGtcaccatttgcgacttgata	10	13	8	10	1	1	2	1	2	0	0	1	3	1	2	2	1	4	1	2	1	4	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:32483410G>C	ENST00000334983.5	+	2	474	c.238G>C	c.(238-240)Gtc>Ctc	p.V80L	CMTM7_ENST00000349718.4_Missense_Mutation_p.V80L	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	80	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTTTGAAGTGGTCACCATTTG	0.532													71	45					0	0	0	0	C	32483410	G	C	32483410	3	2	119	1	0	0	0	0	1	0	0	0	3618	1261	44	4	244	4	CMTM7	3	32483410	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	5134014	32483410	165539020	142	22528											
SCN5A	6331	broad.mit.edu	37	chr3	38592839	38592839	+	Frame_Shift_Del	DEL	C	C	-																															cataagcgaagttggccatgCcaaagatggagtagatgaac																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:38592839delC	ENST00000413689.1	-	28	5217	c.5024delG	c.(5023-5025)gcfs	p.G1675fs	SCN5A_ENST00000443581.1_Frame_Shift_Del_p.G1674fs|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.G1642fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.G1621fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.G1621fs|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.G1621fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.G1657fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.G1657fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.G1674fs|SCN5A_ENST00000333535.4_Frame_Shift_Del_p.G1675fs	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1675					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTTGGCCATGCCAAAGATGGA	0.552													93	64	---	---	---	---					-	38592839	C	-	38592839	7	5	119	1	0	1	0	1	0	0	0	0	14009	739	26	0	1030	0	SCN5A	3	38592839	Frame_Shift_Del	DEL	C	TCGA-CN-A63U-01A-11D-A30E-08	6109429	38592839	159429591	143	22529											
ZNF620	253639	broad.mit.edu	37	chr3	40557746	40557746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagaaatgtcacactggtGaaaagtcttttgaatgcaaa	16	11	9	5	0	2	3	1	3	1	1	2	4	2	3	0	1	1	1	0	1	5	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:40557746G>A	ENST00000314529.6	+	5	810	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	ZNF620_ENST00000418905.1_Missense_Mutation_p.E107K	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TCACACTGGTGAAAAGTCTTT	0.358													48	23					0	0	0	0	A	40557746	G	A	40557746	3	1	119	1	0	0	0	0	1	0	0	0	18139	1291	45	2	675	2	ZNF620	3	40557746	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1964907	40557746	157464684	144	22530											
VPRBP	9730	broad.mit.edu	37	chr3	51458118	51458118	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgatctgccggacagtgCtactgcgagacaggcccact	9	8	12	12	2	1	3	0	2	1	1	1	5	1	4	2	2	4	1	2	2	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:51458118C>G	ENST00000335891.5	-	7	968	c.959G>C	c.(958-960)aGc>aCc	p.S320T				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	769					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CCGGACAGTGCTACTGCGAGA	0.562													58	39					0	0	0	0	G	51458118	C	G	51458118	3	3	119	1	0	0	0	0	1	0	0	0	17281	797	28	4	2261	4	VPRBP	3	51458118	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	10900372	51458118	146564312	145	22531											
RAD54L2	23132	broad.mit.edu	37	chr3	51673492	51673493	+	Frame_Shift_Del	DEL	GA	GA	-																															agaaggagagcttggccaatGagcaggacctagacgtggaa																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:51673492_51673493delGA	ENST00000409535.1	+	12	2043_2044	c.1918_1919delGA	c.(1918-1920)gfs	p.E640fs	RAD54L2_ENST00000296477.3_Frame_Shift_Del_p.E334fs	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	640						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CTTGGCCAATGAGCAGGACCTA	0.535													26	27	---	---	---	---					-	51673493	GA	-	51673492	7	5	119	1	0	1	0	1	0	0	0	0	13076	1291	45	0	1960	0	RAD54L2	3	51673492	Frame_Shift_Del	DEL	GA	TCGA-CN-A63U-01A-11D-A30E-08	215374	51673492	146348938	146	22532											
EPHA3	2042	broad.mit.edu	37	chr3	89390979	89390979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggactggagttggcccCtggacacaggaggccggaaa	9	6	15	11	1	0	0	0	0	0	0	1	5	1	5	4	7	0	1	4	7	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:89390979C>A	ENST00000336596.2	+	5	1270	c.1045C>A	c.(1045-1047)Ctg>Atg	p.L349M	EPHA3_ENST00000494014.1_Missense_Mutation_p.L349M|EPHA3_ENST00000452448.2_Missense_Mutation_p.L349M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	349	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GAGTTGGCCCCTGGACACAGG	0.428										TSP Lung(6;0.00050)			29	61					1.88708e-17	2.48066e-17	1	0	A	89390979	C	A	89390979	3	1	119	1	0	0	0	0	1	0	0	0	5206	680	24	4	1063	4	EPHA3	3	89390979	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	37717487	89390979	108631451	147	22533											
EPHA3	2042	broad.mit.edu	37	chr3	89462292	89462292	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttctttcctcaaacagtAaaacttccaggtctcaggac	11	13	5	12	0	4	0	2	0	3	0	7	1	6	1	2	2	2	1	2	2	3	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:89462292A>T	ENST00000336596.2	+	10	1989	c.1762_splice	c.e10-1	p.L588_splice	EPHA3_ENST00000494014.1_Splice_Site_p.L588_splice	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	588						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTCAAACAGTAAAACTTCCAG	0.373										TSP Lung(6;0.00050)			44	76					0	0	0	0	T	89462292	A	T	89462292	5	4	119	1	0	0	0	0	0	0	1	0	5206	376	13	5	1828	5	EPHA3	3	89462292	Splice_Site	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	71313	89462292	108560138	148	22534											
IMPG2	50939	broad.mit.edu	37	chr3	100961570	100961570	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtatttatcaatagccaagTtcatggtattgtaggcagtg	12	14	10	5	0	2	0	2	0	0	0	2	0	2	0	1	2	1	5	1	2	7	8			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:100961570T>C	ENST00000193391.7	-	14	3171	c.2984A>G	c.(2983-2985)aAc>aGc	p.N995S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	995	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AATAGCCAAGTTCATGGTATT	0.393													23	99					0	0	0	0	C	100961570	T	C	100961570	3	2	119	1	0	0	0	0	1	0	0	0	7782	1725	60	5	765	5	IMPG2	3	100961570	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	11499278	100961570	97060860	149	22535											
MORC1	27136	broad.mit.edu	37	chr3	108788584	108788584	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagatgtgtaggctctgAatgaccacctcgctgggaaa	12	8	12	9	1	1	3	0	2	1	1	2	5	1	4	2	2	1	3	2	2	4	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:108788584A>T	ENST00000232603.5	-	9	792	c.710T>A	c.(709-711)tTc>tAc	p.F237Y	MORC1_ENST00000483760.1_Missense_Mutation_p.F237Y	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	237					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTAGGCTCTGAATGACCACCT	0.363													11	46					0	0	0	0	T	108788584	A	T	108788584	3	4	119	1	0	0	0	0	1	0	0	0	9771	246	9	5	2324	5	MORC1	3	108788584	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	7827014	108788584	89233846	150	22536											
CHST13	166012	broad.mit.edu	37	chr3	126261332	126261332	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcttccgggacatcagcCccttctaccagcggcgcctc	5	8	9	19	3	3	0	1	0	2	0	5	1	4	1	6	2	3	0	6	2	1	3	rs148180435		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:126261332C>G	ENST00000319340.2	+	3	987	c.937C>G	c.(937-939)Ccc>Gcc	p.P313A		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	313					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GGACATCAGCCCCTTCTACCA	0.697													4	17					0	0	0	0	G	126261332	C	G	126261332	3	3	119	1	0	0	0	0	1	0	0	0	3430	623	22	4	947	4	CHST13	3	126261332	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	17472748	126261332	71761098	151	22537											
KIAA1257	57501	broad.mit.edu	37	chr3	128712000	128712000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatgctgctgcacgggcGgtcagagtcagactcctggg	6	8	15	12	3	2	2	2	0	0	2	4	3	3	2	1	3	3	3	1	3	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:128712000G>T	ENST00000265068.5	-	2	315	c.148C>A	c.(148-150)Cgc>Agc	p.R50S	KIAA1257_ENST00000511438.1_Missense_Mutation_p.R50S|KIAA1257_ENST00000510149.1_Intron	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	50										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CTGCACGGGCGGTCAGAGTCA	0.602													22	79					1.64113e-05	1.77096e-05	1	0	T	128712000	G	T	128712000	3	4	119	1	0	0	0	0	1	0	0	0	8269	1116	39	3	1109	3	KIAA1257	3	128712000	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2450668	128712000	69310430	152	22538											
IFT122	55764	broad.mit.edu	37	chr3	129183607	129183607	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcgccaatatggtccatCtgctggaacccttcaaggta	9	11	8	13	1	3	0	1	0	2	0	5	1	4	1	3	3	2	2	3	3	5	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:129183607C>T	ENST00000296266.3	+	8	891	c.699C>T	c.(697-699)atC>atT	p.I233I	IFT122_ENST00000507564.1_Silent_p.I233I|IFT122_ENST00000431818.2_Silent_p.I32I|IFT122_ENST00000440957.2_Silent_p.I32I|IFT122_ENST00000347300.2_Silent_p.I182I|IFT122_ENST00000348417.2_Silent_p.I182I|IFT122_ENST00000349441.2_Silent_p.I130I|IFT122_ENST00000504021.1_Silent_p.I135I	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	182					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TATGGTCCATCTGCTGGAACC	0.488													25	114					0	0	0	0	T	129183607	C	T	129183607	2	4	119	1	0	0	0	0	0	0	0	1	7608	903	32	2		2	IFT122	3	129183607	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	471607	129183607	68838823	153	22539											
CEP70	80321	broad.mit.edu	37	chr3	138218970	138218970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctctggaggtcttcaggtCctaatacctgcataacctgc	9	11	8	13	0	3	0	1	0	2	0	4	1	4	1	4	3	4	1	4	3	3	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:138218970C>A	ENST00000264982.3	-	16	1900	c.1634G>T	c.(1633-1635)gGa>gTa	p.G545V	CEP70_ENST00000484888.1_Missense_Mutation_p.G545V|CEP70_ENST00000542237.1_Missense_Mutation_p.G525V|CEP70_ENST00000481834.1_Missense_Mutation_p.G545V|CEP70_ENST00000489254.1_Missense_Mutation_p.G393V	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	545					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GTCTTCAGGTCCTAATACCTG	0.443													47	52					3.54909e-21	4.84149e-21	1	0	A	138218970	C	A	138218970	3	1	119	1	0	0	0	0	1	0	0	0	3288	855	30	2	171	2	CEP70	3	138218970	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	9035363	138218970	59803460	154	22540											
ZIC4	84107	broad.mit.edu	37	chr3	147113786	147113786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgaagggctttccctGgcgcggacactcctcccaga	6	9	12	14	2	0	2	0	1	0	1	3	3	3	3	3	4	0	2	3	4	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:147113786G>T	ENST00000383075.3	-	3	1053	c.541C>A	c.(541-543)Cag>Aag	p.Q181K	ZIC4_ENST00000425731.3_Missense_Mutation_p.Q219K|ZIC4_ENST00000473123.1_Missense_Mutation_p.Q181K|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.Q231K|ZIC4_ENST00000484399.1_Missense_Mutation_p.Q181K	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	181						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGCTTTCCCTGGCGCGGACAC	0.592													101	155					1.2656e-43	1.88666e-43	1	0	T	147113786	G	T	147113786	3	4	119	1	0	0	0	0	1	0	0	0	17776	1357	47	4	475	4	ZIC4	3	147113786	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	8894816	147113786	50908644	155	22541											
SLITRK3	22865	broad.mit.edu	37	chr3	164906825	164906825	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagtgcgcacatcacggtgCgtgaggttctcagggctcct	7	10	13	11	3	2	1	2	1	1	0	4	1	3	1	1	3	2	3	1	3	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:164906825C>T	ENST00000475390.1	-	2	2237	c.1794G>A	c.(1792-1794)acG>acA	p.T598T	SLITRK3_ENST00000241274.3_Silent_p.T598T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	598	LRRCT 2.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CATCACGGTGCGTGAGGTTCT	0.552										HNSCC(40;0.11)			48	42					0	0	0	0	T	164906825	C	T	164906825	2	4	119	1	0	0	0	0	0	0	0	1	14832	755	27	1		1	SLITRK3	3	164906825	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	17793039	164906825	33115605	156	22542											
SLC2A2	6514	broad.mit.edu	37	chr3	170732404	170732404	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccaaggggttggttttggGttcattgagtatgagattgt	7	15	15	4	0	1	2	1	2	0	1	1	3	1	2	1	4	0	4	1	4	2	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:170732404G>A	ENST00000314251.3	-	3	304	c.225C>T	c.(223-225)aaC>aaT	p.N75N	SLC2A2_ENST00000382808.4_Intron	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	75					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TTGGTTTTGGGTTCATTGAGT	0.463													113	57					0	0	0	0	A	170732404	G	A	170732404	2	1	119	1	0	0	0	0	0	0	0	1	14632	1252	44	4		4	SLC2A2	3	170732404	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	5825579	170732404	27290026	157	22543											
TNIK	23043	broad.mit.edu	37	chr3	170846634	170846642	+	In_Frame_Del	DEL	AACTTTGCC	AACTTTGCC	-																															cttgtgaggcatggcaggggAactttgccggttgagccttg																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:170846634_170846642delAACTTTGCC	ENST00000436636.2	-	16	1978_1986	c.1634_1642delGGCAAAGTT	c.(1633-1644)ccc>c	p.RQSS545del	TNIK_ENST00000284483.8_In_Frame_Del_p.RQSS545del|TNIK_ENST00000470834.1_In_Frame_Del_p.RQSS516del|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000357327.5_In_Frame_Del_p.RQSS516del|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000369326.5_In_Frame_Del_p.RQSS516del|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000341852.6_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	545	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ATGGCAGGGGAACTTTGCCGGTTGAGCCT	0.469													6	8	---	---	---	---					-	170846642	AACTTTGCC	-	170846634	7	5	119	1	0	1	0	1	0	0	0	0	16407	246	9	0	2512	0	TNIK	3	170846634	In_Frame_Del	DEL	AACTTTGCC	TCGA-CN-A63U-01A-11D-A30E-08	114230	170846634	27175796	158	22544											
NLGN1	22871	broad.mit.edu	37	chr3	173998518	173998518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactaaagtgccatcaactGacatcactttcagacctacg	14	9	5	13	1	3	2	3	1	0	1	3	2	3	2	2	0	4	0	2	0	5	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:173998518G>T	ENST00000457714.1	+	7	2326	c.1897G>T	c.(1897-1899)Gac>Tac	p.D633Y	NLGN1_ENST00000361589.4_Missense_Mutation_p.D633Y|NLGN1_ENST00000401917.3_Missense_Mutation_p.D673Y|NLGN1_ENST00000545397.1_Missense_Mutation_p.D633Y	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	650					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GCCATCAACTGACATCACTTT	0.433													67	142					3.8128e-34	5.60296e-34	1	0	T	173998518	G	T	173998518	3	4	119	1	0	0	0	0	1	0	0	0	10531	1290	45	2	1915	2	NLGN1	3	173998518	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3151884	173998518	24023912	159	22545											
NLGN1	22871	broad.mit.edu	37	chr3	173998912	173998912	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtcccccagattacacacTagctatgaggaggtcacctg	10	9	9	13	0	1	2	1	1	0	1	2	3	2	3	3	2	2	1	3	2	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:173998912T>C	ENST00000457714.1	+	7	2720	c.2291T>C	c.(2290-2292)cTa>cCa	p.L764P	NLGN1_ENST00000361589.4_Missense_Mutation_p.L764P|NLGN1_ENST00000401917.3_Missense_Mutation_p.L804P|NLGN1_ENST00000545397.1_Missense_Mutation_p.L764P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	781					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GATTACACACTAGCTATGAGG	0.468													60	99					0	0	0	0	C	173998912	T	C	173998912	3	2	119	1	0	0	0	0	1	0	0	0	10531	1522	53	5	2309	5	NLGN1	3	173998912	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	394	173998912	24023518	160	22546											
ABCC5	10057	broad.mit.edu	37	chr3	183699570	183699570	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacattttgataaatttaatGtaagtaagaacttcattcat	16	17	4	4	0	2	2	2	1	0	1	2	2	2	2	0	0	2	2	0	0	7	10			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:183699570G>T	ENST00000334444.6	-	8	1332	c.1092C>A	c.(1090-1092)taC>taA	p.Y364*	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Nonsense_Mutation_p.Y364*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	364	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAAATTTAATGTAAGTAAGAA	0.408													42	64					4.16155e-14	5.18758e-14	1	0	T	183699570	G	T	183699570	4	4	119	1	0	0	0	0	0	1	0	0	56	1372	48	4	3313	4	ABCC5	3	183699570	Nonsense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	9700658	183699570	14322860	161	22547											
DGKG	1608	broad.mit.edu	37	chr3	185882752	185882752	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcaggccggtgtagatctgCcccatctccatggctccttc	5	12	9	15	1	3	1	1	0	2	1	6	1	4	1	5	3	1	2	5	3	1	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:185882752C>G	ENST00000265022.3	-	23	2690	c.2151G>C	c.(2149-2151)ggG>ggC	p.G717G	DGKG_ENST00000382164.4_Silent_p.G678G|DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000344484.4_Silent_p.G692G|DGKG_ENST00000544847.1_Silent_p.G658G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	717					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGTAGATCTGCCCCATCTCCA	0.562													54	88					0	0	0	0	G	185882752	C	G	185882752	2	3	119	1	0	0	0	0	0	0	0	1	4506	726	26	4		4	DGKG	3	185882752	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2183182	185882752	12139678	162	22548											
ATP13A4	84239	broad.mit.edu	37	chr3	193171890	193171890	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatcatccccatttacCtcgtcaaggtagtagcgtga	12	11	7	11	2	3	1	3	1	0	0	5	1	4	1	3	1	2	2	3	1	6	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:193171890C>A	ENST00000342695.4	-	17	2349	c.2027_splice	c.e17+1	p.R676_splice	ATP13A4_ENST00000392443.3_Splice_Site_p.R657_splice	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	676					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCCCATTTACCTCGTCAAGGT	0.448													36	50					3.21399e-22	4.45157e-22	1	0	A	193171890	C	A	193171890	5	1	119	1	0	0	0	0	0	0	1	0	1130	695	24	4	1619	4	ATP13A4	3	193171890	Splice_Site	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	7289138	193171890	4850540	163	22549											
LRRC15	131578	broad.mit.edu	37	chr3	194080707	194080707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggaagacgttcccgtccaGgtcctgcagtgcgttggtgt	5	10	15	11	4	0	1	0	0	0	1	3	2	3	2	3	3	2	3	3	3	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:194080707G>C	ENST00000347624.3	-	2	1151	c.1066C>G	c.(1066-1068)Ctg>Gtg	p.L356V	LRRC15_ENST00000428839.1_Missense_Mutation_p.L362V|LRRC15_ENST00000439944.2_Missense_Mutation_p.L362V	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	356						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTCCCGTCCAGGTCCTGCAGT	0.577													37	55					0	0	0	0	C	194080707	G	C	194080707	3	2	119	1	0	0	0	0	1	0	0	0	9034	991	35	4	683	4	LRRC15	3	194080707	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	908817	194080707	3941723	164	22550											
TMEM175	84286	broad.mit.edu	37	chr4	951745	951745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgggactgctgtggttcGcccaccactcactcttcctg	5	11	10	15	1	2	0	1	0	1	0	4	1	3	1	3	2	1	2	3	2	0	2	rs143946130		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:951745G>A	ENST00000264771.4	+	11	1161	c.976G>A	c.(976-978)Gcc>Acc	p.A326T	TMEM175_ENST00000515740.1_Missense_Mutation_p.A210T|TMEM175_ENST00000508204.1_Missense_Mutation_p.A244T	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	326						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTGTGGTTCGCCCACCACTC	0.677													8	48					0	0	0	0	A	951745	G	A	951745	3	1	119	1	0	0	0	0	1	0	0	0	16185	1087	38	1	1014	1	TMEM175	4	951745	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08		951745	190202531	165	22551											
GBA3	57733	broad.mit.edu	37	chr4	22749478	22749478	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaaagcaaggctatccAtcatcgaggcttccagaatt	14	9	8	10	1	2	1	2	0	0	1	5	2	4	1	2	2	1	3	2	2	5	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:22749478A>G	ENST00000508166.1	+	0	948				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						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						AAGGCTATCCATCATCGAGGC	0.388													7	8					0	0	0	0	G	22749478	A	G	22749478	1	3	119	0	1	0	0	0	0	0	0	0	6317	204	8	5		5	GBA3	4	22749478	RNA	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	21797733	22749478	168404798	166	22552											
RBM47	54502	broad.mit.edu	37	chr4	40440638	40440638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgcggcccacggcctcGaacacgggcaccagctcgtc	8	5	12	16	5	0	1	0	0	0	1	3	2	0	1	3	3	3	2	3	3	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:40440638G>T	ENST00000319592.4	-	4	982	c.273C>A	c.(271-273)ttC>ttA	p.F91L	RBM47_ENST00000514014.1_Missense_Mutation_p.F53L|RBM47_ENST00000381793.2_Missense_Mutation_p.F91L|RBM47_ENST00000295971.7_Missense_Mutation_p.F91L|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.F91L			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	91	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCACGGCCTCGAACACGGGCA	0.672													38	27					1.04594e-18	1.39781e-18	1	0	T	40440638	G	T	40440638	3	4	119	1	0	0	0	0	1	0	0	0	13223	1049	37	3	1524	3	RBM47	4	40440638	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	17691160	40440638	150713638	167	22553											
KCTD8	386617	broad.mit.edu	37	chr4	44450171	44450171	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagccgctccttctcggggaAgtgctccggcagcgcgagtt	5	8	14	14	5	1	0	0	0	1	0	4	2	3	1	3	3	3	4	3	3	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:44450171A>T	ENST00000360029.3	-	1	653	c.370T>A	c.(370-372)Ttc>Atc	p.F124I		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	124						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTCTCGGGGAAGTGCTCCGGC	0.612										HNSCC(17;0.042)			22	16					0	0	0	0	T	44450171	A	T	44450171	3	4	119	1	0	0	0	0	1	0	0	0	8168	72	3	5	1059	5	KCTD8	4	44450171	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	4009533	44450171	146704105	168	22554											
PDGFRA	5156	broad.mit.edu	37	chr4	55140745	55140745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcagtcctggtgctgttgGtgattgtgatcatctcactt	5	16	11	9	0	2	2	2	2	1	0	4	2	3	2	1	2	2	3	1	2	0	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:55140745G>A	ENST00000257290.5	+	11	1937	c.1606G>A	c.(1606-1608)Gtg>Atg	p.V536M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	536					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GGTGCTGTTGGTGATTGTGAT	0.443			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			33	82					0	0	0	0	A	55140745	G	A	55140745	3	1	119	1	0	0	0	0	1	0	0	0	11732	1261	44	4	1644	4	PDGFRA	4	55140745	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	10690574	55140745	136013531	169	22555											
LPHN3	23284	broad.mit.edu	37	chr4	62935925	62935925	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgccagcggcgaatacCtgagcaactgtgtgcaaatc	11	8	11	11	2	0	1	0	1	0	0	1	2	0	1	2	1	6	3	2	1	4	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:62935925C>T	ENST00000514591.1	+	25	4038	c.3709C>T	c.(3709-3711)Ctg>Ttg	p.L1237L	LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000514996.1_Silent_p.L1271L|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000512091.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000507625.1_Silent_p.L1296L|LPHN3_ENST00000506746.1_Silent_p.L1339L|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000545650.1_Silent_p.L1237L|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000506720.1_Silent_p.L1348L|LPHN3_ENST00000508946.1_Silent_p.L1280L|LPHN3_ENST00000509896.1_3'UTR			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1215					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CGGCGAATACCTGAGCAACTG	0.463													18	23					0	0	0	0	T	62935925	C	T	62935925	2	4	119	1	0	0	0	0	0	0	0	1	8981	680	24	4		4	LPHN3	4	62935925	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	7795180	62935925	128218351	170	22556											
EPHA5	2044	broad.mit.edu	37	chr4	66270112	66270112	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccactgaggaggacgccGataaccactgccaacaaaat	14	6	8	13	2	0	1	0	1	0	0	1	4	1	3	4	2	3	0	4	2	4	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:66270112G>T	ENST00000273854.3	-	8	2370	c.1770C>A	c.(1768-1770)atC>atA	p.I590I	EPHA5_ENST00000511294.1_Silent_p.I591I|EPHA5_ENST00000432638.2_Silent_p.I427I|EPHA5_ENST00000354839.4_Silent_p.I590I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	590					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGAGGACGCCGATAACCACTG	0.488										TSP Lung(17;0.13)			20	47					7.87624e-14	9.76762e-14	1	0	T	66270112	G	T	66270112	2	4	119	1	0	0	0	0	0	0	0	1	5208	1048	37	3		3	EPHA5	4	66270112	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3334187	66270112	124884164	171	22557											
UGT2B15	7366	broad.mit.edu	37	chr4	69536139	69536139	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaatagcagatgatttactGgcattgacaagagtagaagc	15	11	10	5	0	0	5	0	2	0	3	0	5	0	5	0	1	3	3	0	1	6	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:69536139G>A	ENST00000338206.5	-	1	207	c.198C>T	c.(196-198)gcC>gcT	p.A66A		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	66					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ATGATTTACTGGCATTGACAA	0.358													107	231					0	0	0	0	A	69536139	G	A	69536139	2	1	119	1	0	0	0	0	0	0	0	1	17054	1335	47	4		4	UGT2B15	4	69536139	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3266027	69536139	121618137	172	22558											
UGT2A1	10941	broad.mit.edu	37	chr4	70460339	70460339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatgggaactcccaccataGggactccgtggtaaatagct	12	8	10	11	1	0	0	0	0	0	0	2	2	2	2	3	3	2	2	3	3	5	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:70460339G>T	ENST00000503640.1	-	5	1215	c.1160C>A	c.(1159-1161)cCt>cAt	p.P387H	UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000512704.1_Missense_Mutation_p.P343H|UGT2A1_ENST00000514019.1_Missense_Mutation_p.P553H|UGT2A2_ENST00000457664.2_Missense_Mutation_p.P396H|UGT2A1_ENST00000286604.4_Missense_Mutation_p.P387H	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	387					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCCCACCATAGGGACTCCGTG	0.448													30	54					2.12542e-12	2.58265e-12	1	0	T	70460339	G	T	70460339	3	4	119	1	0	0	0	0	1	0	0	0	17049	1000	35	4	431	4	UGT2A1	4	70460339	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	924200	70460339	120693937	173	22559											
ADAMTS3	9508	broad.mit.edu	37	chr4	73164080	73164080	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggatgacattgttgctgTtgattgtaggtacagagtct	8	15	12	6	0	1	3	0	2	1	1	1	4	1	4	1	2	2	5	1	2	2	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:73164080T>A	ENST00000286657.4	-	18	2540	c.2504A>T	c.(2503-2505)aAc>aTc	p.N835I		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	835	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTGTTGCTGTTGATTGTAGG	0.403													53	86					0	0	0	0	A	73164080	T	A	73164080	3	1	119	1	0	0	0	0	1	0	0	0	267	1725	60	5	1133	5	ADAMTS3	4	73164080	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	2703741	73164080	117990196	174	22560											
AFF1	4299	broad.mit.edu	37	chr4	88026817	88026817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcagctcagtgacagtgagGacagtgacagtgaacaagta	14	8	12	7	0	2	4	2	4	0	0	2	5	2	5	0	1	2	2	0	1	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:88026817G>T	ENST00000307808.6	+	8	1720	c.1300G>T	c.(1300-1302)Gac>Tac	p.D434Y	AFF1_ENST00000395146.4_Missense_Mutation_p.D441Y|AFF1_ENST00000544085.1_Missense_Mutation_p.D72Y	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	434						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TGACAGTGAGGACAGTGACAG	0.423													42	60					1.00776e-21	1.38519e-21	1	0	T	88026817	G	T	88026817	3	4	119	1	0	0	0	0	1	0	0	0	356	1174	41	2	1372	2	AFF1	4	88026817	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	14862737	88026817	103127459	175	22561											
MMRN1	22915	broad.mit.edu	37	chr4	90848950	90848950	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcttctatatgcagaagtGatgcaaaaaatgactgatca	15	12	7	7	0	3	4	1	3	2	1	4	4	3	4	0	0	2	2	0	0	6	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:90848950G>A	ENST00000394980.1	+	6	1279	c.960G>A	c.(958-960)gtG>gtA	p.V320V	MMRN1_ENST00000508372.1_Silent_p.V62V|MMRN1_ENST00000264790.2_Silent_p.V320V|MMRN1_ENST00000394981.1_Silent_p.V286V			Q13201	MMRN1_HUMAN	multimerin 1	320					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATGCAGAAGTGATGCAAAAAA	0.338													36	66					0	0	0	0	A	90848950	G	A	90848950	2	1	119	1	0	0	0	0	0	0	0	1	9740	1277	45	2		2	MMRN1	4	90848950	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2822133	90848950	100305326	176	22562											
CENPE	1062	broad.mit.edu	37	chr4	104066453	104066453	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaacctcactaatttgtttTatattaaattgttcctcttt	10	21	3	7	0	2	1	1	1	1	0	3	1	3	1	2	0	1	2	2	0	6	9			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:104066453T>C	ENST00000265148.3	-	32	4700	c.4611A>G	c.(4609-4611)atA>atG	p.I1537M	CENPE_ENST00000380026.3_Missense_Mutation_p.I1512M	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1537					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TAATTTGTTTTATATTAAATT	0.294													18	21					0	0	0	0	C	104066453	T	C	104066453	3	2	119	1	0	0	0	0	1	0	0	0	3259	1744	61	5	3566	5	CENPE	4	104066453	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	13217503	104066453	87087823	177	22563											
TBCK	93627	broad.mit.edu	37	chr4	107154148	107154148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcttttaatacacgcCtaaattttgcatgaccttct	10	14	5	12	1	1	1	0	1	1	0	1	1	1	1	3	1	2	2	3	1	4	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:107154148C>T	ENST00000273980.4	-	18	2033	c.1586G>A	c.(1585-1587)aGg>aAg	p.R529K	TBCK_ENST00000361687.4_Missense_Mutation_p.R466K|TBCK_ENST00000394708.2_Missense_Mutation_p.R529K|TBCK_ENST00000394706.3_Missense_Mutation_p.R490K|TBCK_ENST00000432496.2_Missense_Mutation_p.R529K			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	529	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TAATACACGCCTAAATTTTGC	0.368													37	61					0	0	0	0	T	107154148	C	T	107154148	3	4	119	1	0	0	0	0	1	0	0	0	15730	681	24	4	1135	4	TBCK	4	107154148	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	3087695	107154148	84000128	178	22564											
LRIT3	345193	broad.mit.edu	37	chr4	110791582	110791582	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctgtccaaaaggagtGcctccccagaaagaccaatg	12	8	10	11	0	1	2	0	0	1	2	3	3	3	3	5	1	1	0	5	1	4	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:110791582G>A	ENST00000327908.3	+	4	1892	c.1128G>A	c.(1126-1128)gtG>gtA	p.V376V	LRIT3_ENST00000379920.3_Silent_p.V514V|LRIT3_ENST00000409621.2_Silent_p.V376V|LRIT3_ENST00000594814.1_Silent_p.V559V			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	514	Ser-rich.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CAAAAGGAGTGCCTCCCCAGA	0.498													35	73					0	0	0	0	A	110791582	G	A	110791582	2	1	119	1	0	0	0	0	0	0	0	1	9013	1306	46	4		4	LRIT3	4	110791582	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3637434	110791582	80362694	179	22565											
FAT4	79633	broad.mit.edu	37	chr4	126336448	126336448	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagtgaggctcactggAgaactggacagagaagaagt	14	6	16	5	0	1	5	1	2	0	3	1	8	1	6	0	4	1	1	0	4	4	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:126336448A>G	ENST00000394329.3	+	5	6343	c.6330A>G	c.(6328-6330)ggA>ggG	p.G2110G	FAT4_ENST00000335110.5_Silent_p.G408G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2110	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGCTCACTGGAGAACTGGACA	0.438													63	115					0	0	0	0	G	126336448	A	G	126336448	2	3	119	1	0	0	0	0	0	0	0	1	5737	291	11	5		5	FAT4	4	126336448	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	15544866	126336448	64817828	180	22566											
FAT4	79633	broad.mit.edu	37	chr4	126336742	126336742	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcggatagactctgtcacAggtgccatcactgtcgctaa	9	12	9	11	2	3	1	2	0	1	1	5	2	3	2	1	2	1	1	1	2	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:126336742A>T	ENST00000394329.3	+	5	6637	c.6624A>T	c.(6622-6624)acA>acT	p.T2208T	FAT4_ENST00000335110.5_Silent_p.T506T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2208	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTCTGTCACAGGTGCCATCA	0.458													46	116					0	0	0	0	T	126336742	A	T	126336742	2	4	119	1	0	0	0	0	0	0	0	1	5737	175	7	5		5	FAT4	4	126336742	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	294	126336742	64817534	181	22567											
FAT4	79633	broad.mit.edu	37	chr4	126412471	126412471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaggaatccagcggatGgcattccagctccagaatcc	13	6	10	12	1	0	1	0	0	0	1	4	4	4	3	4	3	3	2	4	3	4	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:126412471G>T	ENST00000394329.3	+	17	14507	c.14494G>T	c.(14494-14496)Ggc>Tgc	p.G4832C	FAT4_ENST00000335110.5_Missense_Mutation_p.G3073C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4832					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCAGCGGATGGCATTCCAGC	0.483													26	79					3.28513e-13	4.02567e-13	1	0	T	126412471	G	T	126412471	3	4	119	1	0	0	0	0	1	0	0	0	5737	1348	47	4	14560	4	FAT4	4	126412471	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	75729	126412471	64741805	182	22568											
RNF150	57484	broad.mit.edu	37	chr4	141832311	141832311	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactcactgttagtagtaaaGatgacgtctccctcctgggg	10	11	10	10	1	2	2	1	1	1	1	4	2	3	2	2	2	1	3	2	2	5	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:141832311G>C	ENST00000306799.3	-	6	1712	c.1059C>G	c.(1057-1059)atC>atG	p.I353M	RNF150_ENST00000420921.2_Missense_Mutation_p.I254M|RNF150_ENST00000507500.1_Missense_Mutation_p.I395M|RNF150_ENST00000515673.1_Missense_Mutation_p.I395M|RNF150_ENST00000379512.2_Missense_Mutation_p.I254M	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	395						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TAGTAGTAAAGATGACGTCTC	0.468													39	76					0	0	0	0	C	141832311	G	C	141832311	3	2	119	1	0	0	0	0	1	0	0	0	13536	932	33	2	139	2	RNF150	4	141832311	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	15419840	141832311	49321965	183	22569											
USP38	84640	broad.mit.edu	37	chr4	144135059	144135059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccagtatacaagatggtGgtctaatgcaagcctctgta	12	10	9	10	0	2	1	0	0	2	1	2	1	2	1	2	2	3	3	2	2	6	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:144135059G>T	ENST00000307017.4	+	9	2436	c.1930G>T	c.(1930-1932)Ggt>Tgt	p.G644C	USP38_ENST00000510377.1_Missense_Mutation_p.G644C	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	644					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ACAAGATGGTGGTCTAATGCA	0.438													109	218					8.11351e-46	1.212e-45	1	0	T	144135059	G	T	144135059	3	4	119	1	0	0	0	0	1	0	0	0	17165	1348	47	4	1964	4	USP38	4	144135059	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2302748	144135059	47019217	184	22570											
ZNF827	152485	broad.mit.edu	37	chr4	146823634	146823634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaacttctttcactgacCttcttggacaaagcggccaa	11	11	7	12	1	4	1	2	1	2	0	4	2	4	2	2	2	2	0	2	2	3	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:146823634C>A	ENST00000508784.1	-	2	1004	c.777G>T	c.(775-777)aaG>aaT	p.K259N	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.K259N			Q17R98	ZN827_HUMAN	zinc finger protein 827	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TTTCACTGACCTTCTTGGACA	0.547													41	22					4.90274e-10	5.67149e-10	1	0	A	146823634	C	A	146823634	3	1	119	1	0	0	0	0	1	0	0	0	18273	680	24	4	2504	4	ZNF827	4	146823634	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2688575	146823634	44330642	185	22571											
DCHS2	54798	broad.mit.edu	37	chr4	155278469	155278469	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaatttctacctctggactAtagagtcctaattagggaaa	14	12	8	7	0	2	2	0	0	2	2	3	4	3	4	2	2	1	0	2	2	7	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:155278469A>C	ENST00000357232.3	-	6	701	c.702T>G	c.(700-702)taT>taG	p.Y234*	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	234	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		cctctggactatagagtccta	0.423													19	29					0	0	0	0	C	155278469	A	C	155278469	4	2	119	1	0	0	0	0	0	1	0	0	4320	456	16	5	8224	5	DCHS2	4	155278469	Nonsense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	8454835	155278469	35875807	186	22572											
ADAM29	11086	broad.mit.edu	37	chr4	175898404	175898404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtgcattgggctcgcttCaatgacataatgtgctggag	9	12	12	8	1	1	1	1	1	0	0	2	2	1	2	0	2	2	4	0	2	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:175898404C>A	ENST00000359240.3	+	5	2398	c.1728C>A	c.(1726-1728)ttC>ttA	p.F576L	ADAM29_ENST00000514159.1_Missense_Mutation_p.F576L|ADAM29_ENST00000445694.1_Missense_Mutation_p.F576L|ADAM29_ENST00000404450.4_Missense_Mutation_p.F576L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	576	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGGCTCGCTTCAATGACATAA	0.408													71	56					2.94884e-30	4.24703e-30	1	0	A	175898404	C	A	175898404	3	1	119	1	0	0	0	0	1	0	0	0	247	825	29	2	1730	2	ADAM29	4	175898404	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	20619935	175898404	15255872	187	22573											
WDR17	116966	broad.mit.edu	37	chr4	177098223	177098223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagtcagctattaaaacGtcgggaggtgtcagtacctt	10	12	11	8	2	3	0	3	0	0	0	4	1	3	1	1	2	3	3	1	2	4	5	rs148628975	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:177098223G>T	ENST00000393643.2	+	28	3761	c.3509G>T	c.(3508-3510)cGt>cTt	p.R1170L	WDR17_ENST00000280190.4_Missense_Mutation_p.R1194L|WDR17_ENST00000508596.1_Missense_Mutation_p.R1155L|WDR17_ENST00000507824.2_Missense_Mutation_p.R1169L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1194										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTATTAAAACGTCGGGAGGTG	0.353													14	16					2.62699e-14	3.2917e-14	1	0	T	177098223	G	T	177098223	3	4	119	1	0	0	0	0	1	0	0	0	17373	1145	40	3	3691	3	WDR17	4	177098223	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1199819	177098223	14056053	188	22574											
SLC12A7	10723	broad.mit.edu	37	chr5	1083862	1083862	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccctgtgagcctcacccAggaagacaccactggccgcg	9	4	11	17	2	1	2	1	1	0	1	1	3	1	3	5	2	2	0	5	2	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:1083862A>T	ENST00000264930.5	-	8	1170	c.1127T>A	c.(1126-1128)cTg>cAg	p.L376Q		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	376					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGCCTCACCCAGGAAGACACC	0.677													18	90					0	0	0	0	T	1083862	A	T	1083862	3	4	119	1	0	0	0	0	1	0	0	0	14476	188	7	5	2192	5	SLC12A7	5	1083862	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08		1083862	179831398	189	22575											
SLC6A19	340024	broad.mit.edu	37	chr5	1210639	1210639	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcatgtggtacttattcAactccttccaggagcctctg	8	13	9	11	0	3	0	2	0	1	0	5	2	5	2	3	3	3	1	3	3	3	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:1210639A>T	ENST00000304460.10	+	3	480	c.424A>T	c.(424-426)Aac>Tac	p.N142Y		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	142					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTACTTATTCAACTCCTTCCA	0.577													14	67					0	0	0	0	T	1210639	A	T	1210639	3	4	119	1	0	0	0	0	1	0	0	0	14770	130	5	5	434	5	SLC6A19	5	1210639	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	126777	1210639	179704621	190	22576											
TERT	7015	broad.mit.edu	37	chr5	1272362	1272362	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgagccacgaactgtcGcatgtacggctggaggtctg	8	8	15	10	3	1	1	0	1	1	0	2	3	1	2	1	4	3	3	1	4	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:1272362G>T	ENST00000310581.5	-	7	2377	c.2320C>A	c.(2320-2322)Cga>Aga	p.R774R	TERT_ENST00000508104.2_Intron|TERT_ENST00000334602.6_Silent_p.R774R|TERT_ENST00000296820.5_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	774	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|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)			ACGAACTGTCGCATGTACGGC	0.642									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				5	42					3.59834e-05	3.87142e-05	1	0	T	1272362	G	T	1272362	2	4	119	1	0	0	0	0	0	0	0	1	15858	1095	38	3		3	TERT	5	1272362	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	61723	1272362	179642898	191	22577											
ADAMTS16	170690	broad.mit.edu	37	chr5	5303769	5303769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggccagagcgcagctgctgCccgacgctgtctgcacctcc	5	6	12	18	4	1	1	0	0	1	1	2	2	2	1	4	1	5	5	4	1	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:5303769C>A	ENST00000274181.7	+	20	3214	c.3076C>A	c.(3076-3078)Ccc>Acc	p.P1026T		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1026	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1026S(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCAGCTGCTGCCCGACGCTGT	0.637													58	29					6.20943e-19	8.31374e-19	1	0	A	5303769	C	A	5303769	3	1	119	1	0	0	0	0	1	0	0	0	261	739	26	4	3154	4	ADAMTS16	5	5303769	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	4031407	5303769	175611491	192	22578											
NSUN2	54888	broad.mit.edu	37	chr5	6625745	6625745	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgattttctcaagatttttcGacttaaatttgtgtgccagg	9	17	8	7	2	1	1	1	0	1	1	3	3	1	1	1	1	1	0	1	1	3	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:6625745G>T	ENST00000264670.6	-	4	708	c.397C>A	c.(397-399)Cga>Aga	p.R133R	NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000506139.1_Silent_p.R98R|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	133						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AAGATTTTTCGACTTAAATTT	0.343													34	20					2.5098e-30	3.62193e-30	1	0	T	6625745	G	T	6625745	2	4	119	1	0	0	0	0	0	0	0	1	10749	1066	37	3		3	NSUN2	5	6625745	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1321976	6625745	174289515	193	22579											
MARCH6	10299	broad.mit.edu	37	chr5	10423871	10423871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacttggagtcctgcatGccaaaatcattgcagctata	11	10	10	10	0	1	0	1	0	0	0	2	1	2	1	2	2	4	4	2	2	4	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:10423871G>T	ENST00000274140.5	+	23	2440	c.2308G>T	c.(2308-2310)Gcc>Tcc	p.A770S	MARCH6_ENST00000449913.2_Missense_Mutation_p.A722S|MARCH6_ENST00000510792.1_Missense_Mutation_p.A468S|MARCH6_ENST00000503788.1_Missense_Mutation_p.A665S	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	770					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGTCCTGCATGCCAAAATCAT	0.368													14	83					2.23348e-06	2.44668e-06	1	0	T	10423871	G	T	10423871	3	4	119	1	0	0	0	0	1	0	0	0	9374	1319	46	4	2398	4	MARCH6	5	10423871	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3798126	10423871	170491389	194	22580											
CDH12	1010	broad.mit.edu	37	chr5	21975224	21975224	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagacatttctggaacagTagcaacataaggtccatcca	15	8	9	9	0	1	1	0	0	1	1	3	3	3	2	2	3	3	2	2	3	4	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:21975224T>A	ENST00000382254.1	-	6	1588	c.502A>T	c.(502-504)Act>Tct	p.T168S	CDH12_ENST00000504376.2_Missense_Mutation_p.T168S|CDH12_ENST00000522262.1_Missense_Mutation_p.T168S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	168	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTGGAACAGTAGCAACATAA	0.398										HNSCC(59;0.17)			29	176					0	0	0	0	A	21975224	T	A	21975224	3	1	119	1	0	0	0	0	1	0	0	0	3127	1638	57	5	1922	5	CDH12	5	21975224	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	11551353	21975224	158940036	195	22581											
PRDM9	56979	broad.mit.edu	37	chr5	23509171	23509171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaagtcccaagaggagaGcccagaagaagacacagaga	19	2	12	8	0	0	7	0	1	0	6	1	9	1	7	2	1	1	0	2	1	5	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:23509171G>T	ENST00000296682.3	+	2	211	c.29G>T	c.(28-30)aGc>aTc	p.S10I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	10					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAAGAGGAGAGCCCAGAAGAA	0.562										HNSCC(3;0.000094)			19	24					3.51602e-12	4.25809e-12	1	0	T	23509171	G	T	23509171	3	4	119	1	0	0	0	0	1	0	0	0	12543	971	34	4	31	4	PRDM9	5	23509171	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1533947	23509171	157406089	196	22582											
PDZD2	23037	broad.mit.edu	37	chr5	32088117	32088117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacaaaaactttctgagCaactactctagaaattttag	16	12	6	7	0	2	3	0	2	2	1	2	3	2	3	0	0	5	1	0	0	8	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:32088117C>A	ENST00000438447.1	+	20	4951	c.4563C>A	c.(4561-4563)agC>agA	p.S1521R	PDZD2_ENST00000282493.3_Missense_Mutation_p.S1521R			O15018	PDZD2_HUMAN	PDZ domain containing 2	1521					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACTTTCTGAGCAACTACTCTA	0.488													37	19					2.87052e-16	3.73271e-16	1	0	A	32088117	C	A	32088117	3	1	119	1	0	0	0	0	1	0	0	0	11772	709	25	4	4637	4	PDZD2	5	32088117	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	8578946	32088117	148827143	197	22583											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576355	33576355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtttgccgtctttcctgagGgttctggctggtggtctcct	1	16	14	10	1	3	1	0	1	3	0	5	1	4	1	3	5	1	3	3	5	0	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:33576355G>T	ENST00000504830.1	-	19	4111	c.3776C>A	c.(3775-3777)cCc>cAc	p.P1259H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P1174H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1259	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTTTCCTGAGGGTTCTGGCTG	0.512										HNSCC(64;0.19)			35	299					1.04352e-10	1.23885e-10	1	0	T	33576355	G	T	33576355	3	4	119	1	0	0	0	0	1	0	0	0	257	1232	43	4	1032	4	ADAMTS12	5	33576355	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1488238	33576355	147338905	198	22584											
PRLR	5618	broad.mit.edu	37	chr5	35065774	35065774	+	Missense_Mutation	SNP	G	G	T																															catcagtaatattgtggtaaGaggatctggggttgtgctgg																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:35065774G>T	ENST00000382002.5	-	10	1712	c.1286C>A	c.(1285-1287)tCt>tAt	p.S429Y	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.S328Y|PRLR_ENST00000342362.5_Missense_Mutation_p.S328Y	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	429					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATTGTGGTAAGAGGATCTGGG	0.493													28	230					1.13719e-10	1.34785e-10	1	0	T	35065774	G	T	35065774	3	4	119	1	0	0	0	0	1	0	0	0	12611	942	33	2	586	2	PRLR	5	35065774	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1489419	35065774	145849486	199	22585	183	2									
PRLR	5618	broad.mit.edu	37	chr5	35065775	35065775	+	Missense_Mutation	SNP	A	A	G																															atcagtaatattgtggtaagAggatctggggttgtgctggc																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:35065775A>G	ENST00000382002.5	-	10	1711	c.1285T>C	c.(1285-1287)Tct>Cct	p.S429P	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.S328P|PRLR_ENST00000342362.5_Missense_Mutation_p.S328P	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	429					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTGTGGTAAGAGGATCTGGGG	0.498													29	231					0	0	0	0	G	35065775	A	G	35065775	3	3	119	1	0	0	0	0	1	0	0	0	12611	304	11	5	587	5	PRLR	5	35065775	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	1	35065775	145849485	200	22586	183	2									
SPEF2	79925	broad.mit.edu	37	chr5	35712924	35712924	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtttagaagccccgcaTggtaagcaagaatctcttca	11	13	8	9	1	2	2	1	0	1	2	3	2	2	2	2	1	2	4	2	1	5	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:35712924T>A	ENST00000440995.2	+	20	2835	c.2835T>A	c.(2833-2835)caT>caA	p.H945Q	SPEF2_ENST00000356031.3_Missense_Mutation_p.H950Q|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	950					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGCCCCGCATGGTAAGCAAG	0.358													40	21					0	0	0	0	A	35712924	T	A	35712924	3	1	119	1	0	0	0	0	1	0	0	0	15125	1461	51	5	2949	5	SPEF2	5	35712924	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	647149	35712924	145202336	201	22587											
NIPBL	25836	broad.mit.edu	37	chr5	37006527	37006527	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagagttacaaaatcagcGgatgcttgtcttacaactat	14	11	9	7	1	2	1	1	0	1	1	2	4	2	2	0	1	5	2	0	1	6	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:37006527G>A	ENST00000282516.8	+	17	4423	c.3924G>A	c.(3922-3924)gcG>gcA	p.A1308A	NIPBL_ENST00000448238.2_Silent_p.A1308A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1308					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.A1308A(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAAAATCAGCGGATGCTTGTC	0.338													76	41					0	0	0	0	A	37006527	G	A	37006527	2	1	119	1	0	0	0	0	0	0	0	1	10498	1103	39	1		1	NIPBL	5	37006527	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1293603	37006527	143908733	202	22588											
GDNF	2668	broad.mit.edu	37	chr5	37815944	37815944	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgtctcagctgcatcgcAagagccgctgcagtacctaa	9	9	10	13	3	1	1	1	0	1	1	3	1	1	1	2	0	5	7	2	0	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:37815944A>G	ENST00000326524.2	-	3	644	c.445T>C	c.(445-447)Tgc>Cgc	p.C149R	GDNF_ENST00000515058.1_Missense_Mutation_p.C123R|GDNF_ENST00000427982.1_Missense_Mutation_p.C166R|GDNF_ENST00000381826.4_Missense_Mutation_p.C140R|GDNF_ENST00000344622.4_Missense_Mutation_p.C123R	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	149					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GCTGCATCGCAAGAGCCGCTG	0.453													23	179					0	0	0	0	G	37815944	A	G	37815944	3	3	119	1	0	0	0	0	1	0	0	0	6373	130	5	5	193	5	GDNF	5	37815944	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	809417	37815944	143099316	203	22589											
PARP8	79668	broad.mit.edu	37	chr5	50111284	50111284	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcctaccgtatgtgaacggGagctgtgtgtgtttgctttt	6	15	13	7	2	0	1	0	1	0	0	0	2	0	2	2	1	5	4	2	1	3	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:50111284G>C	ENST00000281631.5	+	15	1752	c.1594G>C	c.(1594-1596)Gag>Cag	p.E532Q	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.E285Q|PARP8_ENST00000503750.2_Missense_Mutation_p.E532Q|PARP8_ENST00000505697.2_Missense_Mutation_p.E532Q|PARP8_ENST00000505554.1_Missense_Mutation_p.E511Q|PARP8_ENST00000514067.2_Missense_Mutation_p.E532Q	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	532						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATGTGAACGGGAGCTGTGTGT	0.353													18	20					0	0	0	0	C	50111284	G	C	50111284	3	2	119	1	0	0	0	0	1	0	0	0	11536	1175	41	2	1652	2	PARP8	5	50111284	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	12295340	50111284	130803976	204	22590											
IQGAP2	10788	broad.mit.edu	37	chr5	75866432	75866432	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttcattttcgacacacaGataataccgtccagtggtta	11	12	7	11	2	1	1	1	0	0	1	3	2	2	1	3	1	1	1	3	1	3	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:75866432G>C	ENST00000274364.6	+	4	628	c.331G>C	c.(331-333)Gat>Cat	p.D111H	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	111	CH.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TCGACACACAGATAATACCGT	0.438													46	31					0	0	0	0	C	75866432	G	C	75866432	3	2	119	1	0	0	0	0	1	0	0	0	7868	942	33	2	345	2	IQGAP2	5	75866432	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	25755148	75866432	105048828	205	22591											
VCAN	1462	broad.mit.edu	37	chr5	82817080	82817080	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaagacagactggggagtGttagtaccttctgttccatc	9	11	10	11	0	1	2	0	0	1	2	3	3	2	3	3	2	1	3	3	2	3	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:82817080G>A	ENST00000265077.3	+	7	3520	c.2955G>A	c.(2953-2955)gtG>gtA	p.V985V	VCAN_ENST00000342785.4_Silent_p.V985V|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Silent_p.V937V|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	985	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACTGGGGAGTGTTAGTACCTT	0.428													4	70					0	0	0	0	A	82817080	G	A	82817080	2	1	119	1	0	0	0	0	0	0	0	1	17234	1364	48	4		4	VCAN	5	82817080	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	6950648	82817080	98098180	206	22592											
VCAN	1462	broad.mit.edu	37	chr5	82834903	82834903	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgttccagtgcttccCagtgctgtgcaaaagttttc	6	16	9	10	0	1	0	0	0	1	0	4	0	3	0	2	0	3	6	2	0	2	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:82834903C>T	ENST00000265077.3	+	8	6646	c.6081C>T	c.(6079-6081)ccC>ccT	p.P2027P	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Silent_p.P1040P|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2027	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAGTGCTTCCCAGTGCTGTGC	0.488													31	19					0	0	0	0	T	82834903	C	T	82834903	2	4	119	1	0	0	0	0	0	0	0	1	17234	581	21	4		4	VCAN	5	82834903	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	17823	82834903	98080357	207	22593											
HAPLN1	1404	broad.mit.edu	37	chr5	82940381	82940381	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccaggcgtcgtacagctgGtcgaaggaggcgatcacagc	9	5	15	12	5	1	0	1	0	0	0	3	3	1	1	1	4	3	2	1	4	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:82940381G>C	ENST00000274341.4	-	4	1426	c.576C>G	c.(574-576)gaC>gaG	p.D192E		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	192	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CGTACAGCTGGTCGAAGGAGG	0.592													40	21					0	0	0	0	C	82940381	G	C	82940381	3	2	119	1	0	0	0	0	1	0	0	0	7004	1252	44	4	496	4	HAPLN1	5	82940381	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	105478	82940381	97974879	208	22594											
LNPEP	4012	broad.mit.edu	37	chr5	96339245	96339245	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgatctgtgggatagttttAatgaggtaagtgacctgggt	10	14	14	3	0	1	3	0	3	1	0	1	4	1	4	1	3	0	2	1	3	3	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:96339245A>T	ENST00000231368.5	+	9	2472	c.1780A>T	c.(1780-1782)Aat>Tat	p.N594Y	LNPEP_ENST00000395770.3_Missense_Mutation_p.N580Y	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	594			N -> I (in dbSNP:rs12520455).		cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GGATAGTTTTAATGAGGTAAG	0.353													29	24					0	0	0	0	T	96339245	A	T	96339245	3	4	119	1	0	0	0	0	1	0	0	0	8919	362	13	5	1814	5	LNPEP	5	96339245	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	13398864	96339245	84576015	209	22595											
CCDC112	153733	broad.mit.edu	37	chr5	114607088	114607088	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgttctttctgatgttttTtctctttctcttcttcttct	1	25	5	10	1	7	1	0	1	7	0	9	1	7	1	0	1	0	2	0	1	0	9			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:114607088T>C	ENST00000379611.5	-	7	1441	c.1154A>G	c.(1153-1155)aAa>aGa	p.K385R	CCDC112_ENST00000506442.1_Missense_Mutation_p.K302R|CCDC112_ENST00000395557.4_Missense_Mutation_p.K302R|CCDC112_ENST00000512261.1_Missense_Mutation_p.K302R	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	302										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTGATGTTTTTTCTCTTTCTC	0.348													51	38					0	0	0	0	C	114607088	T	C	114607088	3	2	119	1	0	0	0	0	1	0	0	0	2774	1841	64	5	451	5	CCDC112	5	114607088	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	18267843	114607088	66308172	210	22596											
RAPGEF6	51735	broad.mit.edu	37	chr5	130764823	130764823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggggtccttcctttaggtCcgctaaagaaatccccaaat	10	11	9	11	1	0	1	0	0	0	1	4	1	4	1	5	3	0	1	5	3	5	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:130764823C>T	ENST00000509018.1	-	27	4757	c.4552G>A	c.(4552-4554)Gac>Aac	p.D1518N	RAPGEF6_ENST00000307984.5_Intron|FNIP1_ENST00000514667.1_Missense_Mutation_p.D1568N|RAPGEF6_ENST00000507093.1_Intron|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D1526N	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1518					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCCTTTAGGTCCGCTAAAGAA	0.493													49	29					0	0	0	0	T	130764823	C	T	130764823	3	4	119	1	0	0	0	0	1	0	0	0	13130	855	30	2	261	2	RAPGEF6	5	130764823	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	16157735	130764823	50150437	211	22597											
PCDHB11	56125	broad.mit.edu	37	chr5	140580934	140580934	+	Missense_Mutation	SNP	C	C	A																															gccctgcaggctttcgacttCcgcgtgggcgccacagaccg																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:140580934C>A	ENST00000354757.3	+	1	1587	c.1587C>A	c.(1585-1587)ttC>ttA	p.F529L	PCDHB11_ENST00000536699.1_Missense_Mutation_p.F164L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		529	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTCGACTTCCGCGTGGGCG	0.672													117	64					4.73232e-52	7.09849e-52	1	0	A	140580934	C	A	140580934	3	1	119	1	0	0	0	0	1	0	0	0	11607	854	30	2	1589	2	PCDHB11	5	140580934	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	9816111	140580934	40334326	212	22598	184	2									
PCDHB11	56125	broad.mit.edu	37	chr5	140580935	140580935	+	Missense_Mutation	SNP	C	C	T																															ccctgcaggctttcgacttcCgcgtgggcgccacagaccgc																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:140580935C>T	ENST00000354757.3	+	1	1588	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	PCDHB11_ENST00000536699.1_Missense_Mutation_p.R165C	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGACTTCCGCGTGGGCGC	0.672													114	63					0	0	0	0	T	140580935	C	T	140580935	3	4	119	1	0	0	0	0	1	0	0	0	11607	652	23	1	1590	1	PCDHB11	5	140580935	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1	140580935	40334325	213	22599	184	2									
PCDHGA6	56109	broad.mit.edu	37	chr5	140755318	140755318	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttgtgctggaccagaaTgacaatgcgcccgagatcct	9	10	11	11	2	0	3	0	1	0	2	1	5	1	4	3	1	2	2	3	1	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:140755318T>G	ENST00000517434.1	+	1	1668	c.1668T>G	c.(1666-1668)aaT>aaG	p.N556K	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCAGAATGACAATGCGC	0.642													155	91					0	0	0	0	G	140755318	T	G	140755318	3	3	119	1	0	0	0	0	1	0	0	0	11629	1461	51	5	1670	5	PCDHGA6	5	140755318	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	174383	140755318	40159942	214	22600											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764612	140764612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtactgctggcgctcaggCtgcggcgctggcacaagtca	6	8	14	13	4	2	0	2	0	0	0	3	0	2	0	0	4	3	6	0	4	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:140764612C>T	ENST00000518325.1	+	1	2146	c.2146C>T	c.(2146-2148)Ctg>Ttg	p.L716L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCTCAGGCTGCGGCGCTG	0.622													45	37					0	0	0	0	T	140764612	C	T	140764612	2	4	119	1	0	0	0	0	0	0	0	1	11630	796	28	4		4	PCDHGA7	5	140764612	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	9294	140764612	40150648	215	22601											
FAT2	2196	broad.mit.edu	37	chr5	150911310	150911310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcggtgttcaggaacaCgggcaggtagtcttctaggc	7	10	15	9	2	3	0	1	0	2	0	4	1	3	1	0	5	2	4	0	5	3	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:150911310C>A	ENST00000261800.5	-	13	9661	c.9649G>T	c.(9649-9651)Gtg>Ttg	p.V3217L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3217	Cadherin 28.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGGAACACGGGCAGGTAG	0.677													53	25					2.72333e-11	3.25988e-11	1	0	A	150911310	C	A	150911310	3	1	119	1	0	0	0	0	1	0	0	0	5735	536	19	3	3444	3	FAT2	5	150911310	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	10146698	150911310	30003950	216	22602											
HAVCR1	26762	broad.mit.edu	37	chr5	156485002	156485002	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaggctggttggtaccCtccaccagatggtatctgat	9	10	11	11	0	1	3	0	1	1	2	2	3	2	3	3	4	1	4	3	4	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:156485002C>A	ENST00000339252.3	-	0	485				HAVCR1_ENST00000544197.1_Intron|HAVCR1_ENST00000425854.1_De_novo_Start_OutOfFrame|HAVCR1_ENST00000523175.1_Intron|HAVCR1_ENST00000522693.1_De_novo_Start_OutOfFrame	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1						interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTTGGTACCCTCCACCAGAT	0.453													12	10					6.40141e-05	6.81623e-05	1	0	A	156485002	C	A	156485002	1	1	119	1	0	0	0	0	0	0	0	0	7023	696	24	4		4	HAVCR1	5	156485002	Translation_Start_Site	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	5573692	156485002	24430258	217	22603											
CLINT1	9685	broad.mit.edu	37	chr5	157218920	157218920	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcactgccaaagaactCgccactggaagcaacagggc	13	4	12	12	1	0	2	0	1	0	1	1	3	0	3	2	3	4	2	2	3	4	0	rs1803856		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:157218920C>A	ENST00000523094.1	-	10	1322	c.1117G>T	c.(1117-1119)Gag>Tag	p.E373*	CLINT1_ENST00000296951.5_Nonsense_Mutation_p.E373*|CLINT1_ENST00000530742.1_Nonsense_Mutation_p.E373*|CLINT1_ENST00000411809.2_Nonsense_Mutation_p.E391*|CLINT1_ENST00000523908.1_Nonsense_Mutation_p.E391*	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	391					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAAAGAACTCGCCACTGGAA	0.512													35	25					1.04352e-10	1.23885e-10	1	0	A	157218920	C	A	157218920	4	1	119	1	0	0	0	0	0	1	0	0	3561	893	31	3	718	3	CLINT1	5	157218920	Nonsense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	733918	157218920	23696340	218	22604											
EBF1	1879	broad.mit.edu	37	chr5	158158152	158158152	+	Frame_Shift_Del	DEL	G	G	-																															tggaaaccataatcgatggtGggttcgttgagcgctgcaat																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:158158152delG	ENST00000313708.6	-	11	1332	c.1050delC	c.(1048-1050)ccfs	p.P350fs	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Frame_Shift_Del_p.P319fs|EBF1_ENST00000517373.1_Frame_Shift_Del_p.P342fs	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	350					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATCGATGGTGGGTTCGTTGA	0.438			T	HMGA2	lipoma								26	21	---	---	---	---					-	158158152	G	-	158158152	7	5	119	1	0	1	0	1	0	0	0	0	4916	1335	47	0	749	0	EBF1	5	158158152	Frame_Shift_Del	DEL	G	TCGA-CN-A63U-01A-11D-A30E-08	939232	158158152	22757108	219	22605											
NSD1	64324	broad.mit.edu	37	chr5	176675185	176675185	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttttctttgcaagggaGaactaatgcctcacaggacg	11	13	9	8	1	2	1	1	0	1	1	2	3	2	2	1	2	3	1	1	2	4	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:176675185G>T	ENST00000439151.2	+	11	4546	c.4501G>T	c.(4501-4503)Gaa>Taa	p.E1501*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1232*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1398*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1232*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1501					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTGCAAGGGAGAACTAATGCC	0.483			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			24	15					2.44723e-14	3.07179e-14	1	0	T	176675185	G	T	176675185	4	4	119	1	0	0	0	0	0	1	0	0	10740	943	33	2	4539	2	NSD1	5	176675185	Nonsense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	18517033	176675185	4240075	220	22606											
SERPINB6	5269	broad.mit.edu	37	chr6	2949295	2949295	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcatttgcacaggtttCtcctcattctacaaagaaaa	15	12	4	10	0	4	1	2	0	2	1	5	1	4	1	1	1	3	2	1	1	5	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:2949295C>A	ENST00000380520.1	-	5	2576	c.582G>T	c.(580-582)gaG>gaT	p.E194D	SERPINB6_ENST00000380524.1_Missense_Mutation_p.E194D|SERPINB6_ENST00000335686.5_Missense_Mutation_p.E194D|SERPINB6_ENST00000380539.1_Missense_Mutation_p.E194D|SERPINB6_ENST00000380546.3_Missense_Mutation_p.E194D|SERPINB6_ENST00000380529.1_Missense_Mutation_p.E194D			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	194					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GCACAGGTTTCTCCTCATTCT	0.408													13	22					0.00136819	0.00142537	1	0	A	2949295	C	A	2949295	3	1	119	1	0	0	0	0	1	0	0	0	14192	912	32	2	556	2	SERPINB6	6	2949295	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08		2949295	168165772	221	22607											
LRRC16A	55604	broad.mit.edu	37	chr6	25551136	25551136	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacttgtgctgcattgcAggcgttgcttgagtccatgg	5	14	12	10	1	1	1	1	1	0	0	2	1	2	1	1	2	4	5	1	2	0	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:25551136A>T	ENST00000329474.6	+	27	2696		c.e27-1			NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A						actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCTGCATTGCAGGCGTTGCTT	0.488													51	88					0	0	0	0	T	25551136	A	T	25551136	5	4	119	1	0	0	0	0	0	0	1	0	9035	202	7	5	2433	5	LRRC16A	6	25551136	Splice_Site	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	22601841	25551136	145563931	222	22608											
HIST1H2BB	3018	broad.mit.edu	37	chr6	26043824	26043824	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccatccttcttctgcgccTtagtgatagccttcttagaa	8	15	6	12	1	3	2	0	1	3	1	4	2	4	2	4	0	3	0	4	0	5	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:26043824T>A	ENST00000357905.2	-	1	61	c.62A>T	c.(61-63)aAg>aTg	p.K21M		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	21					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTTCTGCGCCTTAGTGATAGC	0.483													71	117					0	0	0	0	A	26043824	T	A	26043824	3	1	119	1	0	0	0	0	1	0	0	0	7191	1609	56	5	322	5	HIST1H2BB	6	26043824	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	492688	26043824	145071243	223	22609											
HIST1H3D	8351	broad.mit.edu	37	chr6	26197415	26197415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttcgagcagccttggtggCcagctgcttgcgtggcgctt	3	12	14	12	3	0	0	0	0	0	0	1	1	0	0	2	3	5	4	2	3	0	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:26197415C>A	ENST00000377831.5	-	2	517	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.A22S	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	22					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GCCTTGGTGGCCAGCTGCTTG	0.622													53	90					9.57592e-29	1.36556e-28	1	0	A	26197415	C	A	26197415	3	1	119	1	0	0	0	0	1	0	0	0	7208	739	26	4	350	4	HIST1H3D	6	26197415	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	153591	26197415	144917652	224	22610											
OR2W1	26692	broad.mit.edu	37	chr6	29012785	29012785	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaaaaagtacattggtgtAtgaagctgggaatccaggag	15	8	14	4	0	0	1	0	1	0	0	1	4	1	4	1	4	2	3	1	4	6	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:29012785A>T	ENST00000377175.1	-	1	232	c.168T>A	c.(166-168)caT>caA	p.H56Q		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						ACATTGGTGTATGAAGCTGGG	0.433													43	64					0	0	0	0	T	29012785	A	T	29012785	3	4	119	1	0	0	0	0	1	0	0	0	11103	446	16	5	798	5	OR2W1	6	29012785	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	2815370	29012785	142102282	225	22611											
PBX2	5089	broad.mit.edu	37	chr6	32157637	32157637	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caggctccccactcaccaatCccaggcccccccggcccccg	6	3	7	25	2	1	0	1	0	0	0	3	0	3	0	9	3	0	1	9	3	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:32157637C>G	ENST00000375050.4	-	1	326	c.56G>C	c.(55-57)gGa>gCa	p.G19A		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	19							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						ACTCACCAATCCCAggccccc	0.781													6	12					0	0	0	0	G	32157637	C	G	32157637	3	3	119	1	0	0	0	0	1	0	0	0	11564	855	30	2	1272	2	PBX2	6	32157637	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	3144852	32157637	138957430	226	22612											
COL11A2	1302	broad.mit.edu	37	chr6	33156797	33156797	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcggaagactggctgagagGgaggttgaggccgcccagtc	8	6	17	10	2	0	3	0	2	0	2	2	6	0	5	2	5	0	2	2	5	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:33156797G>C	ENST00000341947.2	-	3	628	c.401C>G	c.(400-402)cCc>cGc	p.P134R	COL11A2_ENST00000395194.1_Missense_Mutation_p.P134R|COL11A2_ENST00000357486.1_Missense_Mutation_p.P134R|COL11A2_ENST00000395197.1_Missense_Mutation_p.P134R|COL11A2_ENST00000361917.1_Missense_Mutation_p.P134R|COL11A2_ENST00000374714.1_Missense_Mutation_p.P134R|COL11A2_ENST00000374713.1_Missense_Mutation_p.P134R|COL11A2_ENST00000374708.4_Missense_Mutation_p.P134R|COL11A2_ENST00000374712.1_Missense_Mutation_p.P134R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	134	TSP N-terminal.				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						TGGCTGAGAGGGAGGTTGAGG	0.612													55	149					0	0	0	0	C	33156797	G	C	33156797	3	2	119	1	0	0	0	0	1	0	0	0	3698	1232	43	4	5140	4	COL11A2	6	33156797	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	999160	33156797	137958270	227	22613											
CPNE5	57699	broad.mit.edu	37	chr6	36742828	36742828	+	Missense_Mutation	SNP	T	T	A																															tcttcatgacctcggtcttgTggcaaatggtgaacctggtg																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:36742828T>A	ENST00000244751.2	-	10	1271	c.647A>T	c.(646-648)cAc>cTc	p.H216L		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	216	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CTCGGTCTTGTGGCAAATGGT	0.537													10	29					0	0	0	0	A	36742828	T	A	36742828	3	1	119	1	0	0	0	0	1	0	0	0	3845	1696	59	5	1182	5	CPNE5	6	36742828	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	3586031	36742828	134372239	228	22614	185	2									
CPNE5	57699	broad.mit.edu	37	chr6	36742829	36742829	+	Missense_Mutation	SNP	G	G	T																															cttcatgacctcggtcttgtGgcaaatggtgaacctggtga																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:36742829G>T	ENST00000244751.2	-	10	1270	c.646C>A	c.(646-648)Cac>Aac	p.H216N		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	216	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCGGTCTTGTGGCAAATGGTG	0.532													10	29					0.00829132	0.00844313	1	0	T	36742829	G	T	36742829	3	4	119	1	0	0	0	0	1	0	0	0	3845	1348	47	4	1183	4	CPNE5	6	36742829	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1	36742829	134372238	229	22615	185	2									
DAAM2	23500	broad.mit.edu	37	chr6	39832218	39832218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttgtttcaggagcaggagGaccccaacaagctggcaacc	11	7	11	12	0	2	0	1	0	1	0	2	3	2	3	3	4	4	4	3	4	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:39832218G>T	ENST00000538976.1	+	4	450	c.268G>T	c.(268-270)Gac>Tac	p.D90Y	DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Missense_Mutation_p.D90Y|DAAM2_ENST00000398904.2_Missense_Mutation_p.D90Y	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	90	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGAGCAGGAGGACCCCAACAA	0.582													6	15					2.0095e-06	2.20465e-06	1	0	T	39832218	G	T	39832218	3	4	119	1	0	0	0	0	1	0	0	0	4249	1174	41	2	278	2	DAAM2	6	39832218	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3089389	39832218	131282849	230	22616											
MOCS1	4337	broad.mit.edu	37	chr6	39893453	39893453	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacgtccggccggataagCggctctccacctgtgagccg	7	6	12	16	5	1	1	0	1	1	0	3	2	2	2	6	3	2	1	6	3	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:39893453C>T	ENST00000373186.4	-	2	524	c.387G>A	c.(385-387)ccG>ccA	p.P129P	MOCS1_ENST00000373195.3_Silent_p.P42P|MOCS1_ENST00000373188.2_Silent_p.P129P|MOCS1_ENST00000432280.2_Silent_p.P100P|MOCS1_ENST00000373175.4_Silent_p.P100P|MOCS1_ENST00000425303.2_Silent_p.P129P|MOCS1_ENST00000308559.7_Silent_p.P129P|MOCS1_ENST00000340692.5_Silent_p.P129P	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	129	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCCGGATAAGCGGCTCTCCAC	0.607													11	32					0	0	0	0	T	39893453	C	T	39893453	2	4	119	1	0	0	0	0	0	0	0	1	9760	755	27	1		1	MOCS1	6	39893453	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	61235	39893453	131221614	231	22617											
TTBK1	84630	broad.mit.edu	37	chr6	43220480	43220480	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctcatcttcatagctgAaaaagatcgggggcgggggc	9	8	13	11	2	3	2	2	1	1	1	5	2	4	2	2	4	1	1	2	4	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:43220480A>T	ENST00000259750.4	+	3	195	c.112A>T	c.(112-114)Aaa>Taa	p.K38*	TTBK1_ENST00000304139.5_5'UTR	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	38	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTCATAGCTGAAAAAGATCGG	0.587													32	38					0	0	0	0	T	43220480	A	T	43220480	4	4	119	1	0	0	0	0	0	1	0	0	16772	247	9	5	118	5	TTBK1	6	43220480	Nonsense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	3327027	43220480	127894587	232	22618											
RCAN2	10231	broad.mit.edu	37	chr6	46190881	46190881	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaaggagcaggcagctcaGttggacacggagggtggcag	11	4	19	7	1	1	1	1	0	0	1	1	5	1	4	0	6	2	5	0	6	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:46190881G>A	ENST00000371374.1	-	5	920	c.729C>T	c.(727-729)aaC>aaT	p.N243N	RCAN2_ENST00000306764.7_Silent_p.N243N|RCAN2_ENST00000405162.1_Silent_p.N243N|RCAN2_ENST00000330430.6_Silent_p.N197N	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	197					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	p.N197K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AGGCAGCTCAGTTGGACACGG	0.483													65	100					0	0	0	0	A	46190881	G	A	46190881	2	1	119	1	0	0	0	0	0	0	0	1	13251	1020	36	4		4	RCAN2	6	46190881	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2970401	46190881	124924186	233	22619											
TDRD6	221400	broad.mit.edu	37	chr6	46657029	46657029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggacggtgggagaggctgGtctcggtcacaggtcggtga	6	8	20	7	3	2	2	1	1	1	1	4	4	2	3	0	8	0	1	0	8	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:46657029G>T	ENST00000544460.1	+	1	1418	c.1164G>T	c.(1162-1164)tgG>tgT	p.W388C	TDRD6_ENST00000316081.6_Missense_Mutation_p.W388C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	388					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGAGAGGCTGGTCTCGGTCAC	0.493													52	91					1.46357e-32	2.12483e-32	1	0	T	46657029	G	T	46657029	3	4	119	1	0	0	0	0	1	0	0	0	15828	1270	44	4	1166	4	TDRD6	6	46657029	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	466148	46657029	124458038	234	22620											
TNFRSF21	27242	broad.mit.edu	37	chr6	47221257	47221257	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagcttcaggatatcgataCctacaccagagaaaaaataa	19	7	6	9	1	1	1	1	0	0	1	2	4	1	2	2	1	3	1	2	1	8	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:47221257C>T	ENST00000296861.2	-	4	1637	c.1243_splice	c.e4-1	p.G415_splice		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	415	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GATATCGATACCTACACCAGA	0.433													20	45					0	0	0	0	T	47221257	C	T	47221257	5	4	119	1	0	0	0	0	0	0	1	0	16389	521	18	4	735	4	TNFRSF21	6	47221257	Splice_Site	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	564228	47221257	123893810	235	22621											
GPR115	221393	broad.mit.edu	37	chr6	47681656	47681656	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatttgtttgccagacaactCcacatccacaataattctga	14	12	4	11	0	1	2	0	1	1	1	3	2	3	2	3	0	2	1	3	0	4	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:47681656C>A	ENST00000283303.2	+	6	933	c.675C>A	c.(673-675)ctC>ctA	p.L225L	GPR115_ENST00000371220.1_Silent_p.L282L|GPR115_ENST00000327753.3_Silent_p.L225L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	225					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCAGACAACTCCACATCCACA	0.408													37	83					3.3946e-10	3.97779e-10	1	0	A	47681656	C	A	47681656	2	1	119	1	0	0	0	0	0	0	0	1	6681	842	30	2		2	GPR115	6	47681656	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	460399	47681656	123433411	236	22622											
GFRAL	389400	broad.mit.edu	37	chr6	55223853	55223853	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacggtccttcaagtgcAatgtacctgtaggaccatta	10	11	11	9	1	1	0	1	0	0	0	2	2	2	2	3	3	2	3	3	3	5	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:55223853A>G	ENST00000340465.2	+	6	955	c.869A>G	c.(868-870)cAa>cGa	p.Q290R		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	290						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTTCAAGTGCAATGTACCTGT	0.403													42	78					0	0	0	0	G	55223853	A	G	55223853	3	3	119	1	0	0	0	0	1	0	0	0	6402	130	5	5	891	5	GFRAL	6	55223853	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	7542197	55223853	115891214	237	22623											
PHF3	23469	broad.mit.edu	37	chr6	64422299	64422299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagatcaagagaataatttGcaagataaccagacttcaaa	20	8	7	6	0	2	4	2	0	0	4	2	6	2	4	1	0	2	1	1	0	7	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:64422299G>T	ENST00000262043.3	+	16	5155	c.4815G>T	c.(4813-4815)ttG>ttT	p.L1605F	PHF3_ENST00000393387.1_Missense_Mutation_p.L1605F			Q92576	PHF3_HUMAN	PHD finger protein 3	1605					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGAATAATTTGCAAGATAACC	0.328													23	37					3.62473e-10	4.2201e-10	1	0	T	64422299	G	T	64422299	3	4	119	1	0	0	0	0	1	0	0	0	11908	1310	46	4	4873	4	PHF3	6	64422299	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	9198446	64422299	106692768	238	22624											
COL9A1	1297	broad.mit.edu	37	chr6	70926676	70926676	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggctcacagaaaccgggaAgcccaggaggtcccgggggt	9	4	16	12	2	1	1	1	0	0	1	2	3	2	3	3	6	2	1	3	6	2	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:70926676A>T	ENST00000357250.6	-	38	2848	c.2690T>A	c.(2689-2691)cTt>cAt	p.L897H	COL9A1_ENST00000320755.7_Missense_Mutation_p.L654H|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.L654H	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	897	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GAAACCGGGAAGCCCAGGAGG	0.632													26	44					0	0	0	0	T	70926676	A	T	70926676	3	4	119	1	0	0	0	0	1	0	0	0	3737	72	3	5	79	5	COL9A1	6	70926676	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	6504377	70926676	100188391	239	22625											
FILIP1	27145	broad.mit.edu	37	chr6	76024585	76024585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgagactcttgattagcCagtttagcgttcatctcttc	7	17	8	9	1	3	2	1	2	2	1	5	3	3	2	1	0	2	2	1	0	2	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:76024585C>T	ENST00000393004.2	-	5	1184	c.963G>A	c.(961-963)ctG>ctA	p.L321L	FILIP1_ENST00000237172.7_Silent_p.L321L|FILIP1_ENST00000370020.1_Silent_p.L222L|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	321										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTTGATTAGCCAGTTTAGCGT	0.423													36	89					0	0	0	0	T	76024585	C	T	76024585	2	4	119	1	0	0	0	0	0	0	0	1	5939	581	21	4		4	FILIP1	6	76024585	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	5097909	76024585	95090482	240	22626											
LCA5	167691	broad.mit.edu	37	chr6	80198927	80198927	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcttgcttttgagattGcaagtcctattatacgttaa	9	17	7	8	1	1	1	0	1	1	1	2	2	2	1	2	0	3	3	2	0	5	8			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:80198927G>C	ENST00000392959.1	-	8	1716	c.1105C>G	c.(1105-1107)Caa>Gaa	p.Q369E	LCA5_ENST00000369846.4_Missense_Mutation_p.Q369E|LCA5_ENST00000467898.2_Missense_Mutation_p.Q369E	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	369					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTTGAGATTGCAAGTCCTAT	0.348													16	41					0	0	0	0	C	80198927	G	C	80198927	3	2	119	1	0	0	0	0	1	0	0	0	8709	1328	46	4	996	4	LCA5	6	80198927	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	4174342	80198927	90916140	241	22627											
EPHA7	2045	broad.mit.edu	37	chr6	94066616	94066616	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatccaatgttactcccacaGggaacacattcgccctgctc	10	10	6	15	1	0	0	0	0	0	0	4	1	2	1	3	1	3	2	3	1	4	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:94066616G>T	ENST00000369303.4	-	5	1327	c.1143C>A	c.(1141-1143)ccC>ccA	p.P381P		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	381	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TACTCCCACAGGGAACACATT	0.483													23	42					1.22574e-08	1.39341e-08	1	0	T	94066616	G	T	94066616	2	4	119	1	0	0	0	0	0	0	0	1	5210	987	35	4		4	EPHA7	6	94066616	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	13867689	94066616	77048451	242	22628											
GRIK2	2898	broad.mit.edu	37	chr6	102130436	102130436	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttttccttaggcattagcTatgggaatgatgacagaata	12	15	9	5	0	0	3	0	2	0	1	1	4	1	4	1	2	1	2	1	2	6	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:102130436T>A	ENST00000369138.1	+	5	1222	c.732T>A	c.(730-732)gcT>gcA	p.A244A	GRIK2_ENST00000318991.6_Silent_p.A244A|GRIK2_ENST00000369134.4_Silent_p.A195A|GRIK2_ENST00000369137.3_Silent_p.A244A|GRIK2_ENST00000421544.1_Silent_p.A244A|GRIK2_ENST00000358361.3_Silent_p.A244A|GRIK2_ENST00000413795.1_Silent_p.A244A	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	244					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGGCATTAGCTATGGGAATGA	0.289													16	37					0	0	0	0	A	102130436	T	A	102130436	2	1	119	1	0	0	0	0	0	0	0	1	6824	1509	53	5		5	GRIK2	6	102130436	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	8063820	102130436	68984631	243	22629											
RTN4IP1	84816	broad.mit.edu	37	chr6	107031225	107031225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccgcatccaccagttctGcaatgtcatctaaacatggg	10	11	7	13	1	3	0	1	0	2	0	5	0	5	0	3	1	2	3	3	1	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:107031225G>A	ENST00000369063.3	-	8	1526	c.1061C>T	c.(1060-1062)gCa>gTa	p.A354V	RTN4IP1_ENST00000498091.1_5'UTR|RTN4IP1_ENST00000539449.1_3'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	354						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		CACCAGTTCTGCAATGTCATC	0.468													17	18					0	0	0	0	A	107031225	G	A	107031225	3	1	119	1	0	0	0	0	1	0	0	0	13814	1319	46	4	137	4	RTN4IP1	6	107031225	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	4900789	107031225	64083842	244	22630											
LAMA4	3910	broad.mit.edu	37	chr6	112575275	112575275	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagcgttgtcgtccccGgacgcggcgcgggagcaggc	7	4	18	12	7	0	0	0	0	0	0	2	3	1	3	2	5	2	2	2	5	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:112575275G>C	ENST00000230538.7	-	2	475	c.78C>G	c.(76-78)tcC>tcG	p.S26S	RP11-506B6.6_ENST00000588837.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|RP11-506B6.6_ENST00000585450.1_RNA|LAMA4_ENST00000453937.2_Silent_p.S26S|LAMA4_ENST00000368638.4_Silent_p.S26S|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|LAMA4_ENST00000431543.2_Silent_p.S26S|RP11-506B6.6_ENST00000587816.1_RNA|LAMA4_ENST00000389463.4_Silent_p.S26S|LAMA4_ENST00000522006.1_Silent_p.S26S|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000433684.2_RNA|RP11-506B6.6_ENST00000590804.1_RNA|LAMA4_ENST00000424408.2_Silent_p.S26S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	26					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGTCGTCCCCGGACGCGGCGC	0.642													7	18					0	0	0	0	C	112575275	G	C	112575275	2	2	119	1	0	0	0	0	0	0	0	1	8661	1103	39	3		3	LAMA4	6	112575275	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	5544050	112575275	58539792	245	22631											
ROS1	6098	broad.mit.edu	37	chr6	117718215	117718215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaattgaggtggatcccaGctgacttccacagtgtcggg	8	9	15	9	1	0	2	0	2	0	0	3	4	2	4	2	4	1	1	2	4	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:117718215G>T	ENST00000368508.3	-	7	840	c.642C>A	c.(640-642)agC>agA	p.S214R	ROS1_ENST00000368507.3_Missense_Mutation_p.S223R|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	214	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTGGATCCCAGCTGACTTCCA	0.423			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								44	71					9.9998e-32	1.44887e-31	1	0	T	117718215	G	T	117718215	3	4	119	1	0	0	0	0	1	0	0	0	13616	962	34	4	6549	4	ROS1	6	117718215	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	5142940	117718215	53396852	246	22632											
SLC35F1	222553	broad.mit.edu	37	chr6	118596744	118596744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaattcctgggaatgattGgtctctttggagcatttttc	7	17	11	6	0	1	1	0	1	1	0	4	4	2	4	1	4	1	1	1	4	2	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:118596744G>T	ENST00000360388.4	+	5	961	c.760G>T	c.(760-762)Ggt>Tgt	p.G254C		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	254					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GGGAATGATTGGTCTCTTTGG	0.393													38	54					9.85521e-28	1.39712e-27	1	0	T	118596744	G	T	118596744	3	4	119	1	0	0	0	0	1	0	0	0	14676	1348	47	4	778	4	SLC35F1	6	118596744	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	878529	118596744	52518323	247	22633											
SLC35F1	222553	broad.mit.edu	37	chr6	118606439	118606440	+	Frame_Shift_Ins	INS	-	-	A																															cagtgccacttcagtcaaccINStctccttgctcacagcagac																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:118606439_118606440insA	ENST00000360388.4	+	7	1141_1142	c.940_941insA	c.(940-942)ctcfs	p.L314fs		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	314					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTCAGTCAACCTCTCCTTGCTC	0.465											OREG0017635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	129	261	---	---	---	---					A	118606440	-	A	118606439	7	5	119	1	0	1	1	0	0	0	0	0	14676	681	24	0	966	0	SLC35F1	6	118606439	Frame_Shift_Ins	INS	-	TCGA-CN-A63U-01A-11D-A30E-08	9695	118606439	52508628	248	22634											
FAM184A	79632	broad.mit.edu	37	chr6	119296323	119296323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagatgtgatgctctctGtgtcttaattcctcttgtag	7	17	9	8	0	4	2	1	1	3	1	6	3	5	2	1	0	1	2	1	0	2	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:119296323G>T	ENST00000338891.7	-	13	3077	c.2634C>A	c.(2632-2634)caC>caA	p.H878Q	FAM184A_ENST00000521531.1_Missense_Mutation_p.H878Q|FAM184A_ENST00000368475.4_Missense_Mutation_p.H758Q|FAM184A_ENST00000352896.5_Missense_Mutation_p.H758Q|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	878										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GATGCTCTCTGTGTCTTAATT	0.338													11	31					6.40141e-05	6.81623e-05	1	0	T	119296323	G	T	119296323	3	4	119	1	0	0	0	0	1	0	0	0	5553	1368	48	4	812	4	FAM184A	6	119296323	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	689884	119296323	51818744	249	22635											
TRDN	10345	broad.mit.edu	37	chr6	123545262	123545262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctttctttgaagctggtaCatcttcaacatcttctagag	10	15	7	9	0	5	2	1	1	4	1	5	2	5	2	0	1	4	3	0	1	4	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:123545262C>T	ENST00000334268.4	-	38	2283	c.1966G>A	c.(1966-1968)Gta>Ata	p.V656I	TRDN_ENST00000398178.3_Missense_Mutation_p.V664I			Q13061	TRDN_HUMAN	triadin	664					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GAAGCTGGTACATCTTCAACA	0.323													16	39					0	0	0	0	T	123545262	C	T	123545262	3	4	119	1	0	0	0	0	1	0	0	0	16563	478	17	4	211	4	TRDN	6	123545262	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	4248939	123545262	47569805	250	22636											
LAMA2	3908	broad.mit.edu	37	chr6	129799951	129799951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgttaccaaaggatgttCcctggaggttggtctgtttt	6	16	13	6	0	1	0	0	0	1	0	2	2	2	2	2	5	1	4	2	5	2	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:129799951C>A	ENST00000421865.2	+	54	7614	c.7565C>A	c.(7564-7566)tCc>tAc	p.S2522Y		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2522					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAAGGATGTTCCCTGGAGGTT	0.378													69	127					1.43161e-34	2.10805e-34	1	0	A	129799951	C	A	129799951	3	1	119	1	0	0	0	0	1	0	0	0	8659	855	30	2	7779	2	LAMA2	6	129799951	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	6254689	129799951	41315116	251	22637											
VTA1	51534	broad.mit.edu	37	chr6	142525193	142525193	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcccgcacttttcaatacaAtttcccagggtaagtcagct	11	12	6	12	1	2	0	2	0	0	0	4	0	4	0	2	1	2	3	2	1	4	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:142525193A>G	ENST00000367630.4	+	7	827	c.769A>G	c.(769-771)Att>Gtt	p.I257V	VTA1_ENST00000367621.1_Missense_Mutation_p.I199V|VTA1_ENST00000452973.2_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	257	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TTTCAATACAATTTCCCAGGG	0.373													22	40					0	0	0	0	G	142525193	A	G	142525193	3	3	119	1	0	0	0	0	1	0	0	0	17329	101	4	5	795	5	VTA1	6	142525193	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	12725242	142525193	28589874	252	22638											
UTRN	7402	broad.mit.edu	37	chr6	144837953	144837953	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaaaatttagatggatGaggagagtgcccagattgag	14	12	12	3	0	0	5	0	2	0	3	0	7	0	6	1	2	1	0	1	2	4	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:144837953G>T	ENST00000367545.3	+	38	5410	c.5410G>T	c.(5410-5412)Gag>Tag	p.E1804*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1804					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTAGATGGATGAGGAGAGTGC	0.328													5	9					0.000602214	0.00063285	1	0	T	144837953	G	T	144837953	4	4	119	1	0	0	0	0	0	1	0	0	17199	1291	45	2	5560	2	UTRN	6	144837953	Nonsense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2312760	144837953	26277114	253	22639											
SHPRH	257218	broad.mit.edu	37	chr6	146268684	146268684	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgagtatgtgtcagaatcAgagccaaaacctccactgtc	12	9	9	11	1	2	2	2	0	0	2	5	3	3	2	3	0	2	1	3	0	4	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:146268684A>G	ENST00000367503.3	-	6	1555	c.1157T>C	c.(1156-1158)cTg>cCg	p.L386P	SHPRH_ENST00000275233.7_Missense_Mutation_p.L386P|SHPRH_ENST00000367505.2_Missense_Mutation_p.L386P|SHPRH_ENST00000438092.2_Missense_Mutation_p.L386P	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	386	Helicase ATP-binding; first part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGTCAGAATCAGAGCCAAAAC	0.483													41	64					0	0	0	0	G	146268684	A	G	146268684	3	3	119	1	0	0	0	0	1	0	0	0	14379	188	7	5	4038	5	SHPRH	6	146268684	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	1430731	146268684	24846383	254	22640											
GRM1	2911	broad.mit.edu	37	chr6	146755727	146755727	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagacgaactggaagaggAggaggaggacctgcaggcgg	14	2	19	6	2	0	3	0	0	0	3	0	9	0	8	1	7	2	1	1	7	3	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:146755727A>T	ENST00000361719.2	+	9	3850	c.3380A>T	c.(3379-3381)gAg>gTg	p.E1127V	GRM1_ENST00000282753.1_Missense_Mutation_p.E1127V|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1127	Asp/Glu-rich (acidic).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTGGAAGAGGAGGAGGAGGAC	0.637													64	96					0	0	0	0	T	146755727	A	T	146755727	3	4	119	1	0	0	0	0	1	0	0	0	6846	304	11	5	3475	5	GRM1	6	146755727	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	487043	146755727	24359340	255	22641											
LRP11	84918	broad.mit.edu	37	chr6	150157413	150157413	+	Missense_Mutation	SNP	C	C	A																															actagctgccgtgtgggttaCcatcttgcggtccaggccca																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:150157413C>A	ENST00000239367.2	-	5	1065	c.1060G>T	c.(1060-1062)Gta>Tta	p.V354L	LRP11_ENST00000546019.1_Missense_Mutation_p.V99L	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	354						integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GTGTGGGTTACCATCTTGCGG	0.512													16	37					8.60227e-14	1.06315e-13	1	0	A	150157413	C	A	150157413	3	1	119	1	0	0	0	0	1	0	0	0	9017	507	18	4	454	4	LRP11	6	150157413	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	3401686	150157413	20957654	256	22642	186	2									
LRP11	84918	broad.mit.edu	37	chr6	150157414	150157414	+	Missense_Mutation	SNP	C	C	T																															ctagctgccgtgtgggttacCatcttgcggtccaggcccac																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:150157414C>T	ENST00000239367.2	-	5	1064	c.1059G>A	c.(1057-1059)atG>atA	p.M353I	LRP11_ENST00000546019.1_Missense_Mutation_p.M98I	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	353						integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		TGTGGGTTACCATCTTGCGGT	0.507													16	36					0	0	0	0	T	150157414	C	T	150157414	3	4	119	1	0	0	0	0	1	0	0	0	9017	594	21	4	455	4	LRP11	6	150157414	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1	150157414	20957653	257	22643	186	2									
SYNE1	23345	broad.mit.edu	37	chr6	152453256	152453256	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaacgaccagtggaaagttaCcgttttctgtctgtttgggg	9	13	12	7	2	2	0	0	0	2	0	2	2	2	1	2	3	2	3	2	3	3	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:152453256C>A	ENST00000367255.5	-	144	26696		c.e144+1		SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000354674.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000347037.5_Splice_Site|SYNE1_ENST00000539504.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGAAAGTTACCGTTTTCTGT	0.532										HNSCC(10;0.0054)			27	74					4.59853e-10	5.33666e-10	1	0	A	152453256	C	A	152453256	5	1	119	1	0	0	0	0	0	0	1	0	15536	521	18	4	310	4	SYNE1	6	152453256	Splice_Site	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2295842	152453256	18661811	258	22644											
SYNE1	23345	broad.mit.edu	37	chr6	152638075	152638075	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctttttcaatccacttcAaaattaattcaagcatttca	14	16	2	9	0	4	0	4	0	0	0	5	0	5	0	1	0	2	2	1	0	6	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:152638075A>T	ENST00000367255.5	-	87	17220	c.16619T>A	c.(16618-16620)tTg>tAg	p.L5540*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.L5469*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.L5152*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.L64*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.L5469*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.L5540*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5540					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCCACTTCAAAATTAATTC	0.353										HNSCC(10;0.0054)			17	27					0	0	0	0	T	152638075	A	T	152638075	4	4	119	1	0	0	0	0	0	1	0	0	15536	131	5	5	10087	5	SYNE1	6	152638075	Nonsense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	184819	152638075	18476992	259	22645											
SYNE1	23345	broad.mit.edu	37	chr6	152644659	152644659	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatttcctgcatgagcggagGctcttccccaggggttgggg	5	10	16	10	1	1	1	0	1	1	0	3	3	3	2	3	6	2	3	3	6	0	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:152644659G>C	ENST00000367255.5	-	82	16472	c.15871C>G	c.(15871-15873)Cct>Gct	p.P5291A	SYNE1_ENST00000423061.1_Missense_Mutation_p.P5220A|SYNE1_ENST00000341594.5_Missense_Mutation_p.P4984A|SYNE1_ENST00000448038.1_Missense_Mutation_p.P5220A|SYNE1_ENST00000265368.4_Missense_Mutation_p.P5291A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5291					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGAGCGGAGGCTCTTCCCCA	0.557										HNSCC(10;0.0054)			24	74					0	0	0	0	C	152644659	G	C	152644659	3	2	119	1	0	0	0	0	1	0	0	0	15536	1203	42	4	10855	4	SYNE1	6	152644659	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	6584	152644659	18470408	260	22646											
SLC22A2	6582	broad.mit.edu	37	chr6	160670390	160670390	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatccccactgttctccGatatctccgcccaacaaatt	13	10	3	15	2	2	0	0	0	2	0	5	1	3	0	5	0	1	1	5	0	5	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:160670390G>T	ENST00000366952.1	-	6	2118	c.637C>A	c.(637-639)Cgg>Agg	p.R213R	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Silent_p.R234R			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	234					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ACTGTTCTCCGATATCTCCGC	0.458													46	109					2.69774e-35	3.98869e-35	1	0	T	160670390	G	T	160670390	2	4	119	1	0	0	0	0	0	0	0	1	14539	1057	37	3		3	SLC22A2	6	160670390	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	8025731	160670390	10444677	261	22647											
AGPAT4	56895	broad.mit.edu	37	chr6	161587367	161587367	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccacgatggcattttcCttcccatacttgaggtaggc	10	11	9	11	1	0	2	0	1	0	1	2	3	2	2	3	3	2	2	3	3	3	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:161587367C>T	ENST00000320285.4	-	3	473	c.261G>A	c.(259-261)aaG>aaA	p.K87K	AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366908.5_Silent_p.K87K|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000366905.3_Silent_p.K87K|AGPAT4_ENST00000366906.5_Silent_p.K25K	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	87					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TGGCATTTTCCTTCCCATACT	0.532													34	49					0	0	0	0	T	161587367	C	T	161587367	2	4	119	1	0	0	0	0	0	0	0	1	389	680	24	4		4	AGPAT4	6	161587367	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	916977	161587367	9527700	262	22648											
GPR31	2853	broad.mit.edu	37	chr6	167571176	167571176	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgagcaggtagacagcgtaCggcttccacaccctgacccg	9	7	11	14	3	0	3	0	2	0	1	1	3	1	3	3	2	3	4	3	2	2	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:167571176C>A	ENST00000366834.1	-	1	641	c.144G>T	c.(142-144)ccG>ccT	p.P48P		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	48						integral to plasma membrane	G-protein coupled receptor activity	p.P48P(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGACAGCGTACGGCTTCCACA	0.652													20	57					5.49717e-05	5.87937e-05	1	0	A	167571176	C	A	167571176	2	1	119	1	0	0	0	0	0	0	0	1	6736	523	19	3		3	GPR31	6	167571176	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	5983809	167571176	3543891	263	22649											
CRHR2	1395	broad.mit.edu	37	chr7	30695280	30695280	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggattgacgaagaagagcatGtaggtgatgcccaggagggg	12	6	18	5	1	0	4	0	2	0	2	0	7	0	6	1	5	2	2	1	5	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:30695280G>T	ENST00000471646.1	-	10	1386	c.969C>A	c.(967-969)taC>taA	p.Y323*	CRHR2_ENST00000506074.2_Nonsense_Mutation_p.Y323*|CRHR2_ENST00000341843.4_Nonsense_Mutation_p.Y309*|CRHR2_ENST00000348438.4_Nonsense_Mutation_p.Y350*	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	323					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGAAGAGCATGTAGGTGATGC	0.607													96	84					4.91162e-27	6.94932e-27	1	0	T	30695280	G	T	30695280	4	4	119	1	0	0	0	0	0	1	0	0	3902	1372	48	4	278	4	CRHR2	7	30695280	Nonsense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08		30695280	128443383	264	22650											
CCDC129	223075	broad.mit.edu	37	chr7	31691586	31691586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactgcaaacgttacgtgaGgccctgaggcagcaggtggc	10	6	14	11	2	0	2	0	2	0	0	0	2	0	2	1	4	5	4	1	4	3	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:31691586G>T	ENST00000319386.3	+	13	3294	c.2301G>T	c.(2299-2301)gaG>gaT	p.E767D	CCDC129_ENST00000409210.1_Missense_Mutation_p.E823D|CCDC129_ENST00000407970.3_Missense_Mutation_p.E915D|CCDC129_ENST00000451887.2_Missense_Mutation_p.E941D			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	915										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CGTTACGTGAGGCCCTGAGGC	0.483													3	0					1	1	1	0	T	31691586	G	T	31691586	3	4	119	1	0	0	0	0	1	0	0	0	2789	991	35	4	2791	4	CCDC129	7	31691586	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	996306	31691586	127447077	265	22651											
DPY19L1	23333	broad.mit.edu	37	chr7	34981467	34981467	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaataccaagggctgtataTgctaacaattgcaatgcatg	16	10	8	7	0	0	0	0	0	0	0	0	0	0	0	1	1	5	5	1	1	9	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:34981467T>C	ENST00000310974.4	-	18	1524	c.1380A>G	c.(1378-1380)gcA>gcG	p.A460A		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	460						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GGGCTGTATATGCTAACAATT	0.353													29	21					0	0	0	0	C	34981467	T	C	34981467	2	2	119	1	0	0	0	0	0	0	0	1	4776	1451	51	5		5	DPY19L1	7	34981467	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	3289881	34981467	124157196	266	22652											
AEBP1	165	broad.mit.edu	37	chr7	44147650	44147650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgctgccccctgactatGgtgatggttacgtgatcccc	5	10	10	16	2	0	3	0	3	0	0	1	3	1	3	6	2	2	2	6	2	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:44147650G>T	ENST00000223357.3	+	6	1212	c.907G>T	c.(907-909)Ggt>Tgt	p.G303C		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	303	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCCTGACTATGGTGATGGTTA	0.652													8	3					1.12685e-05	1.22513e-05	1	0	T	44147650	G	T	44147650	3	4	119	1	0	0	0	0	1	0	0	0	349	1348	47	4	929	4	AEBP1	7	44147650	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	9166183	44147650	114991013	267	22653											
SEPT14	346288	broad.mit.edu	37	chr7	55874936	55874936	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttaacgaagtcacagTgattttcattttccactagt	11	14	8	8	1	2	1	2	1	0	0	3	3	3	2	1	1	2	1	1	1	3	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:55874936T>C	ENST00000388975.3	-	8	949	c.833A>G	c.(832-834)cAc>cGc	p.H278R		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	278					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAAGTCACAGTGATTTTCATT	0.318													25	22					0	0	0	0	C	55874936	T	C	55874936	3	2	119	1	0	0	0	0	1	0	0	0	14150	1696	59	5	477	5	SEPT14	7	55874936	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	11727286	55874936	103263727	268	22654											
MAGI2	9863	broad.mit.edu	37	chr7	78150894	78150894	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtggctcctggaagtaTctggtctgttacatttaaca	9	14	11	7	0	2	0	0	0	2	0	3	2	3	2	1	4	2	3	1	4	4	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:78150894T>C	ENST00000354212.4	-	4	860	c.607A>G	c.(607-609)Ata>Gta	p.I203V	MAGI2_ENST00000522391.1_Missense_Mutation_p.I203V|MAGI2_ENST00000517762.1_5'UTR|MAGI2_ENST00000535697.1_Missense_Mutation_p.I40V|MAGI2_ENST00000419488.1_Missense_Mutation_p.I203V|MAGI2_ENST00000536571.1_Missense_Mutation_p.I35V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	203	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCTGGAAGTATCTGGTCTGTT	0.448													51	204					0	0	0	0	C	78150894	T	C	78150894	3	2	119	1	0	0	0	0	1	0	0	0	9260	1435	50	5	3836	5	MAGI2	7	78150894	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	22275958	78150894	80987769	269	22655											
PCLO	27445	broad.mit.edu	37	chr7	82544969	82544969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctccattgggtcttcCtccgccttcacataactatg	7	13	7	14	1	2	0	1	0	1	0	6	1	6	1	5	2	1	0	5	2	2	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:82544969C>A	ENST00000423517.2	-	7	12670	c.12333G>T	c.(12331-12333)gaG>gaT	p.E4111D	PCLO_ENST00000437081.1_Missense_Mutation_p.E831D|PCLO_ENST00000333891.8_Missense_Mutation_p.E4111D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4042					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGGGTCTTCCTCCGCCTTCA	0.463													7	30					1.06961e-07	1.19526e-07	1	0	A	82544969	C	A	82544969	3	1	119	1	0	0	0	0	1	0	0	0	11654	680	24	4	3188	4	PCLO	7	82544969	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	4394075	82544969	76593694	270	22656											
PCLO	27445	broad.mit.edu	37	chr7	82585680	82585680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgagccaacactagttCttcgttttctttgtggaaca	9	16	8	8	1	2	2	0	2	2	0	3	3	2	3	1	1	3	2	1	1	3	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:82585680C>A	ENST00000423517.2	-	5	4926	c.4589G>T	c.(4588-4590)aGa>aTa	p.R1530I	PCLO_ENST00000333891.8_Missense_Mutation_p.R1530I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1461					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACACTAGTTCTTCGTTTTCT	0.398													15	36					7.93312e-07	8.74336e-07	1	0	A	82585680	C	A	82585680	3	1	119	1	0	0	0	0	1	0	0	0	11654	913	32	2	10940	2	PCLO	7	82585680	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	40711	82585680	76552983	271	22657											
GRM3	2913	broad.mit.edu	37	chr7	86415962	86415962	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgacgactcgcgggagctcaTtgcagccgccagccgcgcca	7	4	13	17	7	1	0	1	0	0	0	2	3	1	1	4	1	4	2	4	1	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:86415962T>C	ENST00000361669.2	+	3	1953	c.854T>C	c.(853-855)aTt>aCt	p.I285T	GRM3_ENST00000394720.2_Missense_Mutation_p.I283T|GRM3_ENST00000439827.1_Missense_Mutation_p.I285T|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.I157T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	285					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CGGGAGCTCATTGCAGCCGCC	0.652													37	43					0	0	0	0	C	86415962	T	C	86415962	3	2	119	1	0	0	0	0	1	0	0	0	6848	1493	52	5	860	5	GRM3	7	86415962	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	3830282	86415962	72722701	272	22658											
GRM3	2913	broad.mit.edu	37	chr7	86479803	86479803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaagaatgttgtcacaCacagactgcacctcaacagg	14	6	8	13	0	2	3	2	0	0	3	2	3	2	3	2	1	2	2	2	1	3	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:86479803C>A	ENST00000361669.2	+	5	3608	c.2509C>A	c.(2509-2511)Cac>Aac	p.H837N	GRM3_ENST00000394720.2_Missense_Mutation_p.T479K|GRM3_ENST00000439827.1_Missense_Mutation_p.T481K|GRM3_ENST00000546348.1_Missense_Mutation_p.H429N|GRM3_ENST00000536043.1_Missense_Mutation_p.H709N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	837					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGTTGTCACACACAGACTGCA	0.478													15	63					0.000308642	0.000325289	1	0	A	86479803	C	A	86479803	3	1	119	1	0	0	0	0	1	0	0	0	6848	478	17	4	2523	4	GRM3	7	86479803	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	63841	86479803	72658860	273	22659											
KIAA1324L	222223	broad.mit.edu	37	chr7	86544177	86544177	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactttttctattaatatcCtgaaatatagtggaaaaact	15	16	5	5	0	1	1	0	1	1	0	2	2	2	2	1	1	2	1	1	1	9	8			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:86544177C>A	ENST00000450689.2	-	13	1779		c.e13-1		KIAA1324L_ENST00000416314.1_Splice_Site|KIAA1324L_ENST00000490995.1_Splice_Site|KIAA1324L_ENST00000444627.1_Splice_Site|KIAA1324L_ENST00000297222.6_Splice_Site	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like							integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TATTAATATCCTGAAATATAG	0.289													7	19					0.00198382	0.002049	1	0	A	86544177	C	A	86544177	5	1	119	1	0	0	0	0	0	0	1	0	8275	695	24	4	1536	4	KIAA1324L	7	86544177	Splice_Site	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	64374	86544177	72594486	274	22660											
ABCB1	5243	broad.mit.edu	37	chr7	87133630	87133634	+	Frame_Shift_Del	DEL	GATGC	GATGC	-																															tttctgtgccagcagctgctGatgcgtgccatgctccttga																								rs149482536	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:87133630_87133634delGATGC	ENST00000265724.3	-	29	4185_4189	c.3768_3772delGCATC	c.(3766-3774)acagfs	p.THQ1256fs	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Frame_Shift_Del_p.THQ1192fs	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1256	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGCAGCTGCTGATGCGTGCCATGCT	0.488													13	96	---	---	---	---					-	87133634	GATGC	-	87133630	7	5	119	1	0	1	0	1	0	0	0	0	40	1299	45	0	74	0	ABCB1	7	87133630	Frame_Shift_Del	DEL	GATGC	TCGA-CN-A63U-01A-11D-A30E-08	589453	87133630	72005033	275	22661											
ADAM22	53616	broad.mit.edu	37	chr7	87765302	87765302	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattttctcttaggtgaatgTaaatgcgaggacacgtggtc	11	13	11	6	2	1	1	0	1	1	0	3	3	1	2	0	3	1	1	0	3	5	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:87765302T>A	ENST00000398204.4	+	14	1499	c.1176T>A	c.(1174-1176)tgT>tgA	p.C392*	ADAM22_ENST00000315984.7_Nonsense_Mutation_p.C392*|ADAM22_ENST00000398209.3_Nonsense_Mutation_p.C392*|ADAM22_ENST00000398201.4_Nonsense_Mutation_p.C392*|ADAM22_ENST00000265727.7_Nonsense_Mutation_p.C392*	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	392	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TAGGTGAATGTAAATGCGAGG	0.378													20	31					0	0	0	0	A	87765302	T	A	87765302	4	1	119	1	0	0	0	0	0	1	0	0	244	1644	57	5	1230	5	ADAM22	7	87765302	Nonsense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	631672	87765302	71373361	276	22662											
ZNF804B	219578	broad.mit.edu	37	chr7	88964093	88964093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaagaataatagtagtgaGaacaaacttaaggaagcttc	19	8	10	4	0	0	2	0	1	0	2	1	5	0	4	0	2	3	2	0	2	9	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:88964093G>A	ENST00000333190.4	+	4	2406	c.1797G>A	c.(1795-1797)gaG>gaA	p.E599E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	599						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATAGTAGTGAGAACAAACTTA	0.383										HNSCC(36;0.09)			24	35					0	0	0	0	A	88964093	G	A	88964093	2	1	119	1	0	0	0	0	0	0	0	1	18264	933	33	2		2	ZNF804B	7	88964093	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1198791	88964093	70174570	277	22663											
ZNF804B	219578	broad.mit.edu	37	chr7	88965519	88965519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtaccaaatgaattccctGgtgcttttccgtctaataaa	12	13	6	10	1	1	1	0	1	1	0	3	1	3	1	3	1	2	2	3	1	6	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:88965519G>C	ENST00000333190.4	+	4	3832	c.3223G>C	c.(3223-3225)Ggt>Cgt	p.G1075R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1075						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGAATTCCCTGGTGCTTTTCC	0.353										HNSCC(36;0.09)			28	38					0	0	0	0	C	88965519	G	C	88965519	3	2	119	1	0	0	0	0	1	0	0	0	18264	1348	47	4	3237	4	ZNF804B	7	88965519	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1426	88965519	70173144	278	22664											
PPP1R9A	55607	broad.mit.edu	37	chr7	94540062	94540062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcagtatttgagaacactGattctcccagtgccatcatt	10	13	8	10	0	2	2	1	2	1	1	3	3	2	2	2	0	3	2	2	0	2	4	rs141443113		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:94540062G>A	ENST00000289495.5	+	1	853	c.637G>A	c.(637-639)Gat>Aat	p.D213N	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D213N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D213N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D213N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D213N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D213N	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	213						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGAGAACACTGATTCTCCCAG	0.453										HNSCC(28;0.073)			19	21					0	0	0	0	A	94540062	G	A	94540062	3	1	119	1	0	0	0	0	1	0	0	0	12454	1290	45	2	639	2	PPP1R9A	7	94540062	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	5574543	94540062	64598601	279	22665											
PON3	5446	broad.mit.edu	37	chr7	94993271	94993271	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaagaacataagtccagCgaagatccaagatcatctca	19	6	7	9	1	2	4	2	0	1	4	5	5	4	4	2	0	2	0	2	0	6	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:94993271C>G	ENST00000265627.5	-	6	609	c.599G>C	c.(598-600)cGc>cCc	p.R200P	PON3_ENST00000427422.1_Missense_Mutation_p.R200P|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			ATAAGTCCAGCGAAGATCCAA	0.443													56	175					0	0	0	0	G	94993271	C	G	94993271	3	3	119	1	0	0	0	0	1	0	0	0	12322	768	27	3	481	3	PON3	7	94993271	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	453209	94993271	64145392	280	22666											
NPTX2	4885	broad.mit.edu	37	chr7	98256641	98256641	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcccgggggcgtgctgatCcttggacaagagcaggtggg	8	6	18	9	2	0	2	0	1	0	1	1	3	1	3	2	5	3	2	2	5	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:98256641C>A	ENST00000265634.3	+	4	1218	c.1053C>A	c.(1051-1053)atC>atA	p.I351I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	351	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCGTGCTGATCCTTGGACAAG	0.672													4	41					0.00909568	0.0092362	1	0	A	98256641	C	A	98256641	2	1	119	1	0	0	0	0	0	0	0	1	10674	845	30	2		2	NPTX2	7	98256641	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	3263370	98256641	60882022	281	22667											
MUC17	140453	broad.mit.edu	37	chr7	100681213	100681213	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcctgtcagcaccacagtGgtggccagttctgcaatcag	9	9	11	12	0	3	0	2	0	1	0	3	0	3	0	3	2	3	3	3	2	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:100681213G>T	ENST00000306151.4	+	3	6580	c.6516G>T	c.(6514-6516)gtG>gtT	p.V2172V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2172	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCACAGTGGTGGCCAGTT	0.468													217	285					3.89567e-114	5.92962e-114	1	0	T	100681213	G	T	100681213	2	4	119	1	0	0	0	0	0	0	0	1	10044	1335	47	4		4	MUC17	7	100681213	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2424572	100681213	58457450	282	22668											
MUC17	140453	broad.mit.edu	37	chr7	100683806	100683806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgaaggtaccggcataCcaatctcaactcctagtgaa	12	9	8	12	1	1	2	1	2	1	0	3	2	2	2	3	2	4	3	3	2	7	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:100683806C>T	ENST00000306151.4	+	3	9173	c.9109C>T	c.(9109-9111)Cca>Tca	p.P3037S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3037	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCGGCATACCAATCTCAAC	0.512													261	355					0	0	0	0	T	100683806	C	T	100683806	3	4	119	1	0	0	0	0	1	0	0	0	10044	507	18	4	9119	4	MUC17	7	100683806	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2593	100683806	58454857	283	22669											
MUC17	140453	broad.mit.edu	37	chr7	100696663	100696663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatacaagtggcaagaagagGacagtggaccagctcctggg	13	6	14	8	0	0	2	0	0	0	2	1	4	1	4	2	4	2	2	2	4	5	2	rs139724548		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:100696663G>A	ENST00000306151.4	+	11	13373	c.13309G>A	c.(13309-13311)Gac>Aac	p.D4437N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4437						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAAGAAGAGGACAGTGGACC	0.463													15	35					0	0	0	0	A	100696663	G	A	100696663	3	1	119	1	0	0	0	0	1	0	0	0	10044	1174	41	2	13351	2	MUC17	7	100696663	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	12857	100696663	58442000	284	22670											
RELN	5649	broad.mit.edu	37	chr7	103243844	103243844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacttcttgccagtcagaCtcccagccattctggttctc	8	13	6	14	0	4	1	1	0	3	1	6	1	5	1	3	1	3	1	3	1	1	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:103243844C>T	ENST00000424685.2	-	24	3399	c.3240G>A	c.(3238-3240)gaG>gaA	p.E1080E	RELN_ENST00000428762.1_Silent_p.E1080E|RELN_ENST00000343529.5_Silent_p.E1080E			P78509	RELN_HUMAN	reelin	1080					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCAGTCAGACTCCCAGCCAT	0.483													43	71					0	0	0	0	T	103243844	C	T	103243844	2	4	119	1	0	0	0	0	0	0	0	1	13302	564	20	4		4	RELN	7	103243844	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2547181	103243844	55894819	285	22671											
IFRD1	3475	broad.mit.edu	37	chr7	112102225	112102225	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcaatgaagtgaagaaaaAgcttgagatgtatgtatttt	17	13	9	2	0	1	4	1	3	0	2	1	5	1	4	0	0	1	3	0	0	8	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:112102225A>T	ENST00000403825.3	+	7	1049	c.788A>T	c.(787-789)aAg>aTg	p.K263M	IFRD1_ENST00000535603.1_Missense_Mutation_p.K213M|IFRD1_ENST00000005558.4_Missense_Mutation_p.K263M	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	263					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GTGAAGAAAAAGCTTGAGATG	0.333													13	34					0	0	0	0	T	112102225	A	T	112102225	3	4	119	1	0	0	0	0	1	0	0	0	7606	72	3	5	814	5	IFRD1	7	112102225	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	8858381	112102225	47036438	286	22672											
FEZF1	389549	broad.mit.edu	37	chr7	121942294	121942294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgaaaggcttcttgtcGttgtgggtgtgcatgtggaa	7	13	16	5	1	1	1	0	1	1	0	2	2	1	2	0	4	1	3	0	4	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:121942294G>T	ENST00000442488.2	-	4	1252	c.1185C>A	c.(1183-1185)aaC>aaA	p.N395K	FEZF1_ENST00000427185.2_Missense_Mutation_p.N345K|FEZF1_ENST00000331178.4_Missense_Mutation_p.N391K	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	395					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCTTCTTGTCGTTGTGGGTGT	0.547													21	91					1.64293e-13	2.02014e-13	1	0	T	121942294	G	T	121942294	3	4	119	1	0	0	0	0	1	0	0	0	5870	1136	40	3	246	3	FEZF1	7	121942294	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	9840069	121942294	37196369	287	22673											
SMO	6608	broad.mit.edu	37	chr7	128852125	128852125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagggagcgtggaccctgGtctccaacccattctgccca	8	7	11	15	1	2	0	0	0	2	0	3	3	2	2	4	3	3	0	4	3	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:128852125G>T	ENST00000249373.3	+	12	2477	c.2197G>T	c.(2197-2199)Gtc>Ttc	p.V733F	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	733					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTGGACCCTGGTCTCCAACCC	0.667			Mis		skin basal cell								8	27					0.00307968	0.00317181	1	0	T	128852125	G	T	128852125	3	4	119	1	0	0	0	0	1	0	0	0	14888	1261	44	4	2243	4	SMO	7	128852125	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	6909831	128852125	30286538	288	22674											
CPA4	51200	broad.mit.edu	37	chr7	129950685	129950685	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggaccccacgccaattcGgaagtggaggtgaaatcagt	12	7	12	10	2	1	1	1	1	0	0	2	4	1	4	3	4	0	0	3	4	3	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:129950685G>T	ENST00000222482.4	+	9	880	c.852G>T	c.(850-852)tcG>tcT	p.S284S	CPA4_ENST00000445470.2_Silent_p.S251S|CPA4_ENST00000493259.1_Silent_p.S180S	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	284					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					ACGCCAATTCGGAAGTGGAGG	0.493													31	100					7.68411e-24	1.07251e-23	1	0	T	129950685	G	T	129950685	2	4	119	1	0	0	0	0	0	0	0	1	3822	1103	39	3		3	CPA4	7	129950685	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1098560	129950685	29187978	289	22675											
CPA5	93979	broad.mit.edu	37	chr7	130008366	130008366	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgccggccacacagatCatccccacggcccaggagac	9	4	10	18	2	1	2	1	0	0	2	2	3	2	2	5	3	2	1	5	3	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:130008366C>A	ENST00000431780.2	+	11	1599	c.1154C>A	c.(1153-1155)tCa>tAa	p.S385*	CPA5_ENST00000393213.3_Silent_p.I413I|CPA5_ENST00000355388.3_Silent_p.I413I|CPA5_ENST00000466363.2_Silent_p.I413I|CPA5_ENST00000474905.1_Silent_p.I413I|CPA5_ENST00000485477.1_Silent_p.I413I|CPA5_ENST00000461828.1_Silent_p.I413I	NM_001127442.1	NP_001120914.1	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	0					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCACACAGATCATCCCCACGG	0.607													44	135					1.57945e-13	1.94539e-13	1	0	A	130008366	C	A	130008366	4	1	119	1	0	0	0	0	0	1	0	0	3823	838	29	2	1281	2	CPA5	7	130008366	Nonsense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	57681	130008366	29130297	290	22676											
PLXNA4	91584	broad.mit.edu	37	chr7	131815313	131815313	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcccacactggtcatcGtggtccagaggtccaaggat	8	10	11	12	1	1	1	1	0	0	1	5	2	4	2	3	4	1	1	3	4	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:131815313G>A	ENST00000359827.3	-	32	6572	c.5610C>T	c.(5608-5610)caC>caT	p.H1870H	PLXNA4_ENST00000321063.4_Silent_p.H1870H			Q9HCM2	PLXA4_HUMAN	plexin A4	1870						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACTGGTCATCGTGGTCCAGAG	0.527													16	52					0	0	0	0	A	131815313	G	A	131815313	2	1	119	1	0	0	0	0	0	0	0	1	12194	1136	40	1		1	PLXNA4	7	131815313	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1806947	131815313	27323350	291	22677											
DGKI	9162	broad.mit.edu	37	chr7	137150721	137150721	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccggctgtgacaccaccaTatctgggtccagaataaaaa	13	7	9	12	2	1	2	0	1	1	1	2	2	2	2	4	2	0	1	4	2	5	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:137150721T>C	ENST00000453654.1	-	27	2238	c.1699A>G	c.(1699-1701)Atg>Gtg	p.M567V	DGKI_ENST00000424189.2_Missense_Mutation_p.M870V|DGKI_ENST00000446122.1_Missense_Mutation_p.M839V|DGKI_ENST00000288490.5_Missense_Mutation_p.M857V			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	857					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GACACCACCATATCTGGGTCC	0.512													18	74					0	0	0	0	C	137150721	T	C	137150721	3	2	119	1	0	0	0	0	1	0	0	0	4508	1406	49	5	660	5	DGKI	7	137150721	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	5335408	137150721	21987942	292	22678											
DGKI	9162	broad.mit.edu	37	chr7	137255999	137255999	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaatcatggtgatcaccTgggtttccccagggcattgt	8	12	11	10	1	2	1	2	1	0	0	4	2	3	1	3	3	0	2	3	3	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:137255999T>A	ENST00000453654.1	-	19	1508	c.969A>T	c.(967-969)ccA>ccT	p.P323P	DGKI_ENST00000424189.2_Silent_p.P623P|DGKI_ENST00000446122.1_Silent_p.P623P|DGKI_ENST00000288490.5_Silent_p.P623P			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	623					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GGTGATCACCTGGGTTTCCCC	0.408													6	23					0	0	0	0	A	137255999	T	A	137255999	2	1	119	1	0	0	0	0	0	0	0	1	4508	1567	55	5		5	DGKI	7	137255999	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	105278	137255999	21882664	293	22679											
UBN2	254048	broad.mit.edu	37	chr7	138964104	138964104	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcacctaaacccaaagtaAaggtaagtactgaaacaaaa	20	6	6	9	0	0	1	0	1	0	0	0	1	0	1	2	1	4	4	2	1	10	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:138964104A>T	ENST00000288561.8	+	13	2065	c.1816A>T	c.(1816-1818)Aag>Tag	p.K606*	UBN2_ENST00000473989.2_Nonsense_Mutation_p.K689*	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	689										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ACCCAAAGTAAAGGTAAGTAC	0.308													7	35					0	0	0	0	T	138964104	A	T	138964104	4	4	119	1	0	0	0	0	0	1	0	0	16989	15	1	5	2115	5	UBN2	7	138964104	Nonsense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	1708105	138964104	20174559	294	22680											
ADCK2	90956	broad.mit.edu	37	chr7	140373568	140373588	+	In_Frame_Del	DEL	CAAACTGGGCCAGTGGGCCAG	CAAACTGGGCCAGTGGGCCAG	-																															acctcaggcccaacctacatCaaactgggccagtgggccag																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:140373568_140373588delCAAACTGGGCCAGTGGGCCAG	ENST00000072869.4	+	1	616_636	c.438_458delCAAACTGGGCCAGTGGGCCAG	c.(436-459)atc>at	p.IKLGQWAS146del	ADCK2_ENST00000476491.1_In_Frame_Del_p.IKLGQWAS146del	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	146						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CAACCTACATCAAACTGGGCCAGTGGGCCAGCACCCGGCGC	0.606													24	115	---	---	---	---					-	140373588	CAAACTGGGCCAGTGGGCCAG	-	140373568	7	5	119	1	0	1	0	1	0	0	0	0	289	816	29	0	440	0	ADCK2	7	140373568	In_Frame_Del	DEL	CAAACTGGGCCAGTGGGCCAG	TCGA-CN-A63U-01A-11D-A30E-08	1409464	140373568	18765095	295	22681											
OR9A4	130075	broad.mit.edu	37	chr7	141619579	141619579	+	Frame_Shift_Del	DEL	C	C	-																															ataaagtcatagaggcccttCgggatggggtgaaacgctgc																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:141619579delC	ENST00000548136.1	+	1	963	c.904delC	c.(904-906)ggfs	p.R302fs	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AGAGGCCCTTCGGGATGGGGT	0.423													39	55	---	---	---	---					-	141619579	C	-	141619579	7	5	119	1	0	1	0	1	0	0	0	0	11320	875	31	0	906	0	OR9A4	7	141619579	Frame_Shift_Del	DEL	C	TCGA-CN-A63U-01A-11D-A30E-08	1246011	141619579	17519084	296	22682											
CASP2	835	broad.mit.edu	37	chr7	142997027	142997027	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttttaggaaatgcaagaGaaactgcagaattttgcaca	15	12	8	6	0	1	2	0	0	1	2	1	4	1	3	0	1	4	3	0	1	5	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:142997027G>C	ENST00000310447.5	+	7	1000	c.759G>C	c.(757-759)gaG>gaC	p.E253D	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	253					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AAATGCAAGAGAAACTGCAGA	0.463											OREG0018400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	64					0	0	0	0	C	142997027	G	C	142997027	3	2	119	1	0	0	0	0	1	0	0	0	2696	933	33	2	785	2	CASP2	7	142997027	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1377448	142997027	16141636	297	22683											
OR2F2	135948	broad.mit.edu	37	chr7	143632975	143632975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctgcctggttctgttgtCctacatccggatcatctcca	5	16	7	13	1	4	0	1	0	3	0	7	1	6	1	4	2	2	2	4	2	1	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:143632975C>A	ENST00000408955.2	+	1	717	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GTTCTGTTGTCCTACATCCGG	0.527													23	52					3.6726e-16	4.75859e-16	1	0	A	143632975	C	A	143632975	3	1	119	1	0	0	0	0	1	0	0	0	11068	855	30	2	652	2	OR2F2	7	143632975	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	635948	143632975	15505688	298	22684											
SSPO	23145	broad.mit.edu	37	chr7	149482235	149482235	+	RNA	SNP	C	C	A																															ccaggacgagcgctgtgtgcCtcctgacctctgtccctgcc																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:149482235C>A	ENST00000378016.2	+	0	2909							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCTGTGTGCCTCCTGACCTC	0.637													53	59					1.63038e-21	2.23674e-21	1	0	A	149482235	C	A	149482235	1	1	119	0	1	0	0	0	0	0	0	0	15279	681	24	4		4	SSPO	7	149482235	RNA	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	5849260	149482235	9656428	299	22685	187	2									
SSPO	23145	broad.mit.edu	37	chr7	149482236	149482236	+	RNA	SNP	T	T	A																															caggacgagcgctgtgtgccTcctgacctctgtccctgccg																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:149482236T>A	ENST00000378016.2	+	0	2910							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGTGTGCCTCCTGACCTCT	0.637													53	59					0	0	0	0	A	149482236	T	A	149482236	1	1	119	0	1	0	0	0	0	0	0	0	15279	1538	54	5		5	SSPO	7	149482236	RNA	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	1	149482236	9656427	300	22686	187	2									
SSPO	23145	broad.mit.edu	37	chr7	149524900	149524900	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggtggccccgggggaGctggggctctgcgagcagac	6	4	19	12	2	1	1	0	0	1	1	1	3	1	2	2	6	4	4	2	6	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:149524900G>C	ENST00000378016.2	+	0	14811							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCCGGGGGAGCTGGGGCTCT	0.652													15	26					0	0	0	0	C	149524900	G	C	149524900	1	2	119	0	1	0	0	0	0	0	0	0	15279	962	34	4		4	SSPO	7	149524900	RNA	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	42664	149524900	9613763	301	22687											
TMEM176B	28959	broad.mit.edu	37	chr7	150493555	150493555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccagctttcagcagttGtgtcaaagctgactcctggt	8	12	9	12	0	2	1	2	1	0	0	4	1	4	1	3	1	3	4	3	1	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:150493555G>T	ENST00000447204.2	-	2	475	c.103C>A	c.(103-105)Caa>Aaa	p.Q35K	TMEM176B_ENST00000326442.5_Missense_Mutation_p.Q35K|TMEM176B_ENST00000429904.2_Missense_Mutation_p.Q35K|TMEM176B_ENST00000450753.2_Missense_Mutation_p.Q35K|TMEM176B_ENST00000492607.1_Missense_Mutation_p.Q35K|TMEM176B_ENST00000434545.1_Missense_Mutation_p.Q35K	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	35					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)		TTCAGCAGTTGTGTCAAAGCT	0.532													13	74					0.000151284	0.000160615	1	0	T	150493555	G	T	150493555	3	4	119	1	0	0	0	0	1	0	0	0	16187	1386	48	4	733	4	TMEM176B	7	150493555	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	968655	150493555	8645108	302	22688											
TMEM176A	55365	broad.mit.edu	37	chr7	150501523	150501523	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcatctctgacccctcTgtggctgtactgctggagaa	6	12	11	12	0	3	2	0	1	3	1	4	3	3	2	2	3	2	4	2	3	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:150501523T>A	ENST00000484928.1	+	6	1210	c.629T>A	c.(628-630)cTg>cAg	p.L210Q	TMEM176A_ENST00000461345.1_Missense_Mutation_p.L151Q|TMEM176A_ENST00000004103.3_Missense_Mutation_p.L210Q			Q96HP8	T176A_HUMAN	transmembrane protein 176A	210						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGACCCCTCTGTGGCTGTAC	0.552													40	54					0	0	0	0	A	150501523	T	A	150501523	3	1	119	1	0	0	0	0	1	0	0	0	16186	1580	55	5	647	5	TMEM176A	7	150501523	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	7968	150501523	8637140	303	22689											
AGAP3	116988	broad.mit.edu	37	chr7	150815625	150815625	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggccttgcgaaagaagcAgcaactggccatcgggccct	10	6	13	12	2	0	1	0	0	0	1	1	2	0	1	3	3	4	2	3	3	3	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:150815625A>T	ENST00000397238.2	+	7	875	c.875A>T	c.(874-876)cAg>cTg	p.Q292L	AGAP3_ENST00000479901.1_Missense_Mutation_p.Q292L|AGAP3_ENST00000463381.1_Missense_Mutation_p.Q64L|AGAP3_ENST00000473312.1_Missense_Mutation_p.Q292L|AGAP3_ENST00000335367.3_Missense_Mutation_p.Q472L	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	256	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CGAAAGAAGCAGCAACTGGCC	0.622													67	74					0	0	0	0	T	150815625	A	T	150815625	3	4	119	1	0	0	0	0	1	0	0	0	369	188	7	5	901	5	AGAP3	7	150815625	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	314102	150815625	8323038	304	22690											
CSMD1	64478	broad.mit.edu	37	chr8	2855679	2855679	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattagtgaatccgtgggcaGggtttccagggtgaccacat	9	10	13	9	1	0	2	0	2	0	0	2	2	2	2	3	3	0	2	3	3	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:2855679G>C	ENST00000520002.1	-	55	8789	c.8234C>G	c.(8233-8235)cCt>cGt	p.P2745R	CSMD1_ENST00000542608.1_Missense_Mutation_p.P2686R|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2744R|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2687R|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2687R|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2745R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2745	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCGTGGGCAGGGTTTCCAGG	0.478													46	90					0	0	0	0	C	2855679	G	C	2855679	3	2	119	1	0	0	0	0	1	0	0	0	3976	1000	35	4	2531	4	CSMD1	8	2855679	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08		2855679	143508343	305	22691											
PRSS55	203074	broad.mit.edu	37	chr8	10388887	10388887	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaggtcgccagcatcattCttcacaaagactttaagaga	14	9	9	9	1	3	2	2	0	1	2	4	4	3	3	1	2	1	1	1	2	2	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:10388887C>G	ENST00000328655.3	+	3	470	c.430C>G	c.(430-432)Ctt>Gtt	p.L144V	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.L144V	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	144	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CAGCATCATTCTTCACAAAGA	0.517													6	290					0	0	0	0	G	10388887	C	G	10388887	3	3	119	1	0	0	0	0	1	0	0	0	12713	913	32	2	440	2	PRSS55	8	10388887	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	7533208	10388887	135975135	306	22692											
DLC1	10395	broad.mit.edu	37	chr8	12956894	12956894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagccccaaccccagaatcCcttctttccgggatctcgga	9	8	8	16	2	2	1	0	0	2	1	5	4	4	3	6	2	2	0	6	2	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:12956894C>A	ENST00000276297.4	-	9	3361	c.2952G>T	c.(2950-2952)agG>agT	p.R984S	DLC1_ENST00000520226.1_Missense_Mutation_p.R473S|DLC1_ENST00000512044.2_Missense_Mutation_p.R581S|DLC1_ENST00000358919.2_Missense_Mutation_p.R547S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	984					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCCCAGAATCCCTTCTTTCCG	0.582													34	28					4.3181e-19	5.80295e-19	1	0	A	12956894	C	A	12956894	3	1	119	1	0	0	0	0	1	0	0	0	4587	622	22	4	1674	4	DLC1	8	12956894	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2568007	12956894	133407128	307	22693											
DLC1	10395	broad.mit.edu	37	chr8	12957281	12957281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttggggctgtcgctactGttttccctcctgaggctgat	3	15	11	12	1	0	2	0	2	0	0	4	2	3	2	3	3	1	4	3	3	1	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:12957281G>T	ENST00000276297.4	-	9	2974	c.2565C>A	c.(2563-2565)aaC>aaA	p.N855K	DLC1_ENST00000520226.1_Missense_Mutation_p.N344K|DLC1_ENST00000512044.2_Missense_Mutation_p.N452K|DLC1_ENST00000358919.2_Missense_Mutation_p.N418K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	855					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGTCGCTACTGTTTTCCCTCC	0.582													24	34					1.96895e-08	2.22083e-08	1	0	T	12957281	G	T	12957281	3	4	119	1	0	0	0	0	1	0	0	0	4587	1368	48	4	2061	4	DLC1	8	12957281	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	387	12957281	133406741	308	22694											
PSD3	23362	broad.mit.edu	37	chr8	18725278	18725278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactagaatagcccatcaCgatgccaccatctgcagaca	13	6	7	15	1	2	2	1	0	1	2	2	3	2	2	4	0	3	1	4	0	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:18725278C>T	ENST00000440756.2	-	4	1642	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	PSD3_ENST00000523619.1_Missense_Mutation_p.V449M|PSD3_ENST00000327040.8_Missense_Mutation_p.V514M			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	514					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TAGCCCATCACGATGCCACCA	0.517													65	85					0	0	0	0	T	18725278	C	T	18725278	3	4	119	1	0	0	0	0	1	0	0	0	12727	536	19	1	1691	1	PSD3	8	18725278	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	5767997	18725278	127638744	309	22695											
SLC39A14	23516	broad.mit.edu	37	chr8	22273316	22273316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagccattatgcctctgagtCgcttccctccaagaaggacc	9	9	8	15	1	1	2	0	1	1	1	4	3	3	3	5	1	2	1	5	1	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:22273316C>T	ENST00000381237.1	+	6	904	c.785C>T	c.(784-786)tCg>tTg	p.S262L	SLC39A14_ENST00000240095.6_Missense_Mutation_p.S262L|SLC39A14_ENST00000289952.5_Missense_Mutation_p.S262L|SLC39A14_ENST00000359741.5_Missense_Mutation_p.S262L	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	262						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GCCTCTGAGTCGCTTCCCTCC	0.552													8	39					0	0	0	0	T	22273316	C	T	22273316	3	4	119	1	0	0	0	0	1	0	0	0	14705	893	31	1	977	1	SLC39A14	8	22273316	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	3548038	22273316	124090706	310	22696											
UNC5D	137970	broad.mit.edu	37	chr8	35631840	35631841	+	Frame_Shift_Ins	INS	-	-	T																															aacgagaaaccatcactttcINSttcgcacaagaggacagcac																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:35631840_35631841insT	ENST00000287272.2	+	15	2315_2316	c.2295_2296insT	c.(2293-2298)tttcgcfs	p.R766fs	UNC5D_ENST00000404895.2_Frame_Shift_Ins_p.R835fs|UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.R840fs|UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.R830fs|UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.R768fs|UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.R411fs			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	835					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCATCACTTTCTTCGCACAAGA	0.426													16	89	---	---	---	---					T	35631841	-	T	35631840	7	5	119	1	0	1	1	0	0	0	0	0	17091	912	32	0	2564	0	UNC5D	8	35631840	Frame_Shift_Ins	INS	-	TCGA-CN-A63U-01A-11D-A30E-08	13358524	35631840	110732182	311	22697											
LSM1	27257	broad.mit.edu	37	chr8	38021207	38021207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagtactcatcaagagtaTctgctcgaggaatggaaaga	15	10	10	6	1	3	2	2	0	1	2	4	5	3	4	0	2	2	3	0	2	6	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:38021207T>C	ENST00000311351.4	-	4	778	c.383A>G	c.(382-384)gAt>gGt	p.D128G	LSM1_ENST00000520755.1_3'UTR|RP11-90P5.2_ENST00000520598.1_RNA|LSM1_ENST00000522515.1_5'UTR	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)	128					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					ATCAAGAGTATCTGCTCGAGG	0.498													15	19					0	0	0	0	C	38021207	T	C	38021207	3	2	119	1	0	0	0	0	1	0	0	0	9114	1435	50	5	22	5	LSM1	8	38021207	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	2389367	38021207	108342815	312	22698											
ZMAT4	79698	broad.mit.edu	37	chr8	40532344	40532344	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagagggttattaaaccaGgctgcacagagcccacagta	14	7	10	10	0	1	2	1	0	0	2	1	2	1	2	2	2	3	4	2	2	4	3	rs141980582	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:40532344G>T	ENST00000297737.6	-	5	602	c.456C>A	c.(454-456)gcC>gcA	p.A152A	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	152						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TATTAAACCAGGCTGCACAGA	0.507													64	207					7.75977e-34	1.13569e-33	1	0	T	40532344	G	T	40532344	2	4	119	1	0	0	0	0	0	0	0	1	17789	987	35	4		4	ZMAT4	8	40532344	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2511137	40532344	105831678	313	22699											
ANK1	286	broad.mit.edu	37	chr8	41553999	41553999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggcggcaggtgatgcGggtgggcgctgcgcacgtcc	5	5	19	12	5	0	1	0	1	0	0	1	2	1	1	2	5	2	3	2	5	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:41553999G>T	ENST00000396942.1	-	26	2925	c.2842C>A	c.(2842-2844)Cgc>Agc	p.R948S	ANK1_ENST00000379758.2_Missense_Mutation_p.R948S|ANK1_ENST00000396945.1_Missense_Mutation_p.R948S|ANK1_ENST00000265709.8_Missense_Mutation_p.R989S|ANK1_ENST00000289734.7_Missense_Mutation_p.R948S|ANK1_ENST00000352337.4_Missense_Mutation_p.R948S|ANK1_ENST00000347528.4_Missense_Mutation_p.R948S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	948	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAGGTGATGCGGGTGGGCGCT	0.687													17	52					2.4624e-09	2.82589e-09	1	0	T	41553999	G	T	41553999	3	4	119	1	0	0	0	0	1	0	0	0	620	1116	39	3	3197	3	ANK1	8	41553999	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1021655	41553999	104810023	314	22700											
BHLHE22	27319	broad.mit.edu	37	chr8	65494139	65494139	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacgacgcgctggacgaGctgcgcgcggtgatccccta	7	6	14	14	7	0	2	0	2	0	0	1	5	1	3	2	2	3	2	2	2	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:65494139G>C	ENST00000321870.1	+	1	1326	c.792G>C	c.(790-792)gaG>gaC	p.E264D	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	264	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CGCTGGACGAGCTGCGCGCGG	0.627													8	31					0	0	0	0	C	65494139	G	C	65494139	3	2	119	1	0	0	0	0	1	0	0	0	1426	962	34	4	794	4	BHLHE22	8	65494139	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	23940140	65494139	80869883	315	22701											
SULF1	23213	broad.mit.edu	37	chr8	70541742	70541742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttctcttggaacagggaGgctgctcaggaagtagatag	10	9	13	9	0	2	1	1	0	1	1	3	4	2	4	1	4	2	3	1	4	4	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:70541742G>T	ENST00000260128.4	+	19	2829	c.2112G>T	c.(2110-2112)gaG>gaT	p.E704D	SULF1_ENST00000419716.3_Missense_Mutation_p.E704D|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.E704D|SULF1_ENST00000458141.2_Missense_Mutation_p.E704D	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	704					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGAACAGGGAGGCTGCTCAGG	0.453													12	43					1.5842e-08	1.79526e-08	1	0	T	70541742	G	T	70541742	3	4	119	1	0	0	0	0	1	0	0	0	15460	991	35	4	2170	4	SULF1	8	70541742	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	5047603	70541742	75822280	316	22702											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744247	70744247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaactcttggatctggtagGggggcgagatgaagtgaggt	9	10	17	5	1	3	3	1	2	2	1	3	5	3	4	0	6	1	1	0	6	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:70744247G>T	ENST00000260126.3	-	2	1368	c.662C>A	c.(661-663)cCc>cAc	p.P221H	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P221H|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P221H	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	221						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GATCTGGTAGGGGGGCGAGAT	0.677													13	37					1.61879e-10	1.90928e-10	1	0	T	70744247	G	T	70744247	3	4	119	1	0	0	0	0	1	0	0	0	14819	1232	43	4	1920	4	SLCO5A1	8	70744247	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	202505	70744247	75619775	317	22703											
ZFHX4	79776	broad.mit.edu	37	chr8	77616489	77616489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaacctgaaaacggatgagCgcaaaagtgaagccttgctg	15	6	11	9	2	0	3	0	3	0	0	0	4	0	4	2	1	5	2	2	1	6	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:77616489C>A	ENST00000521891.2	+	2	614	c.166C>A	c.(166-168)Cgc>Agc	p.R56S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R56S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R56S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R56S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	56						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R56C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACGGATGAGCGCAAAAGTGA	0.498										HNSCC(33;0.089)			46	61					2.24893e-16	2.93498e-16	1	0	A	77616489	C	A	77616489	3	1	119	1	0	0	0	0	1	0	0	0	17730	768	27	3	168	3	ZFHX4	8	77616489	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	6872242	77616489	68747533	318	22704											
RIMS2	9699	broad.mit.edu	37	chr8	105261717	105261717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccttcttccattaggtGacattcaggtaggaatgatg	9	14	9	9	0	2	2	1	2	1	0	4	3	4	3	3	3	0	1	3	3	3	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:105261717G>T	ENST00000507740.1	+	20	3270	c.3034G>T	c.(3034-3036)Gac>Tac	p.D1012Y	RIMS2_ENST00000436393.2_Missense_Mutation_p.D1216Y|RIMS2_ENST00000339750.2_Missense_Mutation_p.D134Y|RIMS2_ENST00000262231.10_Missense_Mutation_p.D1037Y|RIMS2_ENST00000406091.3_Missense_Mutation_p.D1198Y	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1260					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCCATTAGGTGACATTCAGGT	0.433										HNSCC(12;0.0054)			12	40					3.07112e-06	3.35918e-06	1	0	T	105261717	G	T	105261717	3	4	119	1	0	0	0	0	1	0	0	0	13453	1290	45	2	3874	2	RIMS2	8	105261717	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	27645228	105261717	41102305	319	22705											
LRP12	29967	broad.mit.edu	37	chr8	105503749	105503749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcgtaccgctagcctcaGattttccaaaacagaagcct	13	9	7	12	2	1	3	1	0	0	3	3	3	2	3	4	0	4	2	4	0	5	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:105503749G>T	ENST00000276654.5	-	7	1840	c.1732C>A	c.(1732-1734)Ctg>Atg	p.L578M	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.L559M	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	578					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCTAGCCTCAGATTTTCCAAA	0.348													44	33					5.48756e-27	7.74904e-27	1	0	T	105503749	G	T	105503749	3	4	119	1	0	0	0	0	1	0	0	0	9018	933	33	2	851	2	LRP12	8	105503749	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	242032	105503749	40860273	320	22706											
EIF3E	3646	broad.mit.edu	37	chr8	109260897	109260897	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagatgccgatccaaaaagTgcgcgatgcgagtagtcaag	13	7	12	9	4	1	1	1	0	0	1	2	4	2	1	2	0	3	1	2	0	5	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:109260897T>G	ENST00000220849.5	-	1	97	c.35A>C	c.(34-36)cAc>cCc	p.H12P	EIF3E_ENST00000519030.1_5'UTR	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	12	Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			ATCCAAAAAGTGCGCGATGCG	0.517													62	65					0	0	0	0	G	109260897	T	G	109260897	3	3	119	1	0	0	0	0	1	0	0	0	5053	1696	59	5	1354	5	EIF3E	8	109260897	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	3757148	109260897	37103125	321	22707											
COL14A1	7373	broad.mit.edu	37	chr8	121293232	121293232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggggtttctatggagcCtggtaccttcaatgtgtttc	7	14	13	7	0	2	0	1	0	1	0	3	2	2	2	2	5	2	3	2	5	4	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:121293232C>T	ENST00000297848.3	+	31	4028	c.3758C>T	c.(3757-3759)cCt>cTt	p.P1253L	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1253L|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1158L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1253	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTATGGAGCCTGGTACCTTC	0.358													20	32					0	0	0	0	T	121293232	C	T	121293232	3	4	119	1	0	0	0	0	1	0	0	0	3701	681	24	4	3876	4	COL14A1	8	121293232	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	12032335	121293232	25070790	322	22708											
FER1L6	654463	broad.mit.edu	37	chr8	125052131	125052131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtccacagaacagcatGtttttcagctgagggctcac	10	12	9	10	0	2	2	2	1	0	1	3	2	3	2	1	1	3	4	1	1	1	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:125052131G>A	ENST00000522917.1	+	20	2679	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	FER1L6_ENST00000399018.1_Missense_Mutation_p.V825I|RP11-959I15.4_ENST00000522005.1_RNA|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	825	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGAACAGCATGTTTTTCAGCT	0.498													23	134					0	0	0	0	A	125052131	G	A	125052131	3	1	119	1	0	0	0	0	1	0	0	0	5860	1377	48	4	2547	4	FER1L6	8	125052131	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3758899	125052131	21311891	323	22709											
TG	7038	broad.mit.edu	37	chr8	133899343	133899343	+	Frame_Shift_Del	DEL	G	G	-																															cttctctcctggagcttccaGaattccttctcttcttgcaa																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:133899343delG	ENST00000220616.4	+	9	1766	c.1726delG	c.(1726-1728)aafs	p.E576fs	TG_ENST00000377869.1_Frame_Shift_Del_p.E576fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	576					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGAGCTTCCAGAATTCCTTCT	0.448													20	104	---	---	---	---					-	133899343	G	-	133899343	7	5	119	1	0	1	0	1	0	0	0	0	15907	943	33	0	1760	0	TG	8	133899343	Frame_Shift_Del	DEL	G	TCGA-CN-A63U-01A-11D-A30E-08	8847212	133899343	12464679	324	22710											
COL22A1	169044	broad.mit.edu	37	chr8	139706751	139706751	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggatggttttcttacCggtggtccagtgggtccctg	5	12	16	8	1	1	0	0	0	1	0	3	2	3	2	3	6	1	1	3	6	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:139706751C>A	ENST00000303045.6	-	34	3146	c.2700_splice	c.e34+1	p.P900_splice	COL22A1_ENST00000435777.1_Splice_Site_p.P900_splice|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	900	Collagen-like 7.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTTTTCTTACCGGTGGTCCAG	0.597										HNSCC(7;0.00092)			43	60					8.20599e-20	1.11104e-19	1	0	A	139706751	C	A	139706751	5	1	119	1	0	0	0	0	0	0	1	0	3711	666	23	3	2308	3	COL22A1	8	139706751	Splice_Site	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	5807408	139706751	6657271	325	22711											
PYCRL	65263	broad.mit.edu	37	chr8	144687915	144687915	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcaggtggcagcctccacGgcgctcatggtggctgctcg	4	7	16	14	4	1	0	1	0	0	0	3	0	2	0	2	6	2	5	2	6	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:144687915G>C	ENST00000220966.6	-	6	845	c.816C>G	c.(814-816)gcC>gcG	p.A272A	PYCRL_ENST00000377579.3_Silent_p.A123A|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	260					proline biosynthetic process		pyrroline-5-carboxylate reductase activity			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CAGCCTCCACGGCGCTCATGG	0.682													9	71					0	0	0	0	C	144687915	G	C	144687915	2	2	119	1	0	0	0	0	0	0	0	1	12939	1103	39	3		3	PYCRL	8	144687915	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	4981164	144687915	1676107	326	22712											
GLDC	2731	broad.mit.edu	37	chr9	6587274	6587274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtttgcaaattctttccAtgtgataggctgaaaagaaa	14	13	9	5	0	1	3	0	2	1	1	2	4	2	3	1	1	1	3	1	1	5	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:6587274A>G	ENST00000321612.6	-	15	1867	c.1717T>C	c.(1717-1719)Tgg>Cgg	p.W573R		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	573					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AATTCTTTCCATGTGATAGGC	0.353													40	16					0	0	0	0	G	6587274	A	G	6587274	3	3	119	1	0	0	0	0	1	0	0	0	6484	217	8	5	1389	5	GLDC	9	6587274	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08		6587274	134626157	327	22713											
PTPRD	5789	broad.mit.edu	37	chr9	8341964	8341964	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgatgaagcaaccagtcCggccaactcccgcactatga	12	6	9	14	3	0	3	0	3	0	0	2	4	2	3	4	1	3	2	4	1	4	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:8341964C>G	ENST00000381196.4	-	37	5219	c.4676G>C	c.(4675-4677)cGg>cCg	p.R1559P	PTPRD_ENST00000397606.3_Missense_Mutation_p.R1152P|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1152P|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1537P|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1153P|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1152P|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1149P|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1559P|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1149P|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1546P|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1559P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1559	Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCAACCAGTCCGGCCAACTCC	0.343										TSP Lung(15;0.13)			28	22					0	0	0	0	G	8341964	C	G	8341964	3	3	119	1	0	0	0	0	1	0	0	0	12881	652	23	3	1090	3	PTPRD	9	8341964	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1754690	8341964	132871467	328	22714											
PTPRD	5789	broad.mit.edu	37	chr9	8492937	8492937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaggctgtgacggtgaGggagtaggaagtttcaggct	8	11	18	4	1	1	2	1	2	0	0	1	4	1	4	0	5	0	5	0	5	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:8492937G>A	ENST00000381196.4	-	24	2935	c.2392C>T	c.(2392-2394)Ctc>Ttc	p.L798F	PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.L776F|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.L798F|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L785F|PTPRD_ENST00000356435.5_Missense_Mutation_p.L798F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	798	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTGACGGTGAGGGAGTAGGAA	0.488										TSP Lung(15;0.13)			52	41					0	0	0	0	A	8492937	G	A	8492937	3	1	119	1	0	0	0	0	1	0	0	0	12881	1000	35	4	3494	4	PTPRD	9	8492937	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	150973	8492937	132720494	329	22715											
TAF1L	138474	broad.mit.edu	37	chr9	32632985	32632985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcagcgcagagctttaGcctcttccggatgctgcttt	7	12	11	11	2	2	1	1	0	1	1	3	3	3	2	2	1	5	4	2	1	2	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:32632985G>T	ENST00000242310.4	-	1	2682	c.2593C>A	c.(2593-2595)Cta>Ata	p.L865I		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	865					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAGAGCTTTAGCCTCTTCCGG	0.463													60	120					2.73361e-28	3.88291e-28	1	0	T	32632985	G	T	32632985	3	4	119	1	0	0	0	0	1	0	0	0	15614	962	34	4	2891	4	TAF1L	9	32632985	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	24140048	32632985	108580446	330	22716											
KIAA1161	57462	broad.mit.edu	37	chr9	34371054	34371054	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggcgcacgatagggtcacCcgtgtcggtgacctcgcccg	5	6	16	14	6	1	1	1	1	0	0	3	2	1	1	3	4	0	1	3	4	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:34371054C>G	ENST00000297625.7	-	2	2011	c.1786G>C	c.(1786-1788)Ggt>Cgt	p.G596R		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	630					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ATAGGGTCACCCGTGTCGGTG	0.662													18	32					0	0	0	0	G	34371054	C	G	34371054	3	3	119	1	0	0	0	0	1	0	0	0	8262	623	22	4	260	4	KIAA1161	9	34371054	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1738069	34371054	106842377	331	22717											
PIGO	84720	broad.mit.edu	37	chr9	35093918	35093918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatcacctggtccatctgGctaagtttcttggccatttc	6	15	9	11	0	3	0	1	0	2	0	5	1	4	1	3	4	0	2	3	4	1	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:35093918G>C	ENST00000378617.3	-	4	1153	c.759C>G	c.(757-759)agC>agG	p.S253R	PIGO_ENST00000341666.3_Missense_Mutation_p.S253R|PIGO_ENST00000298004.5_Missense_Mutation_p.S253R|PIGO_ENST00000361778.2_Missense_Mutation_p.S253R	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	253					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGTCCATCTGGCTAAGTTTCT	0.527													42	39					0	0	0	0	C	35093918	G	C	35093918	3	2	119	1	0	0	0	0	1	0	0	0	11966	1194	42	4	2542	4	PIGO	9	35093918	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	722864	35093918	106119513	332	22718											
ZCCHC7	84186	broad.mit.edu	37	chr9	37357174	37357174	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtctcccaaggaaggcaAgaggggcaagcagaagaaaa	18	2	13	8	0	1	3	0	0	1	3	2	4	1	4	1	4	1	3	1	4	8	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:37357174A>G	ENST00000336755.5	+	9	1647	c.1541A>G	c.(1540-1542)aAg>aGg	p.K514R	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.K224R	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	514							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AAGGAAGGCAAGAGGGGCAAG	0.433													31	57					0	0	0	0	G	37357174	A	G	37357174	3	3	119	1	0	0	0	0	1	0	0	0	17688	72	3	5	1571	5	ZCCHC7	9	37357174	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	2263256	37357174	103856257	333	22719											
CBWD5	220869	broad.mit.edu	37	chr9	70490056	70490056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcatccacagatccaaCagccggtaacattccggcct	10	9	6	16	2	1	1	1	0	0	1	5	1	5	1	6	2	3	1	6	2	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:70490056C>T	ENST00000382405.3	-	1	190	c.13G>A	c.(13-15)Gtt>Att	p.V5I	CBWD5_ENST00000377384.1_Missense_Mutation_p.V5I|CBWD5_ENST00000429800.2_Missense_Mutation_p.V5I|CBWD5_ENST00000430059.2_Missense_Mutation_p.V5I|CBWD5_ENST00000377395.4_Missense_Mutation_p.V5I			Q5RIA9	CBWD5_HUMAN	COBW domain containing 5	5							ATP binding								all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		ACAGATCCAACAGCCGGTAAC	0.612													56	113					0	0	0	0	T	70490056	C	T	70490056	3	4	119	1	0	0	0	0	1	0	0	0	2740	478	17	4	1082	4	CBWD5	9	70490056	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	33132882	70490056	70723375	334	22720											
PIP5K1B	8395	broad.mit.edu	37	chr9	71606169	71606169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcttctgtgcttgacgtctAtttagtaagtaattttttag	8	20	8	5	1	2	1	0	1	2	0	2	1	2	1	0	0	2	4	0	0	5	10			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:71606169A>G	ENST00000265382.3	+	15	1921	c.1616A>G	c.(1615-1617)tAt>tGt	p.539_539insC	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	0						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTTGACGTCTATTTAGTAAGT	0.438													9	35					0	0	0	0	G	71606169	A	G	71606169	3	3	119	1	0	0	0	0	1	0	0	0	12012	449	16	5	1662	5	PIP5K1B	9	71606169	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	1116113	71606169	69607262	335	22721											
C9orf135	138255	broad.mit.edu	37	chr9	72521027	72521027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaactctatcccttgaCtagtgggcctattgtgccaa	11	11	8	11	0	1	2	0	1	1	1	2	2	2	2	3	1	2	0	3	1	5	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:72521027C>T	ENST00000377197.3	+	6	752	c.665C>T	c.(664-666)aCt>aTt	p.T222I	C9orf135_ENST00000527647.1_3'UTR|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	222						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TATCCCTTGACTAGTGGGCCT	0.338													14	64					0	0	0	0	T	72521027	C	T	72521027	3	4	119	1	0	0	0	0	1	0	0	0	2483	565	20	4	687	4	C9orf135	9	72521027	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	914858	72521027	68692404	336	22722											
TMEM2	23670	broad.mit.edu	37	chr9	74324291	74324291	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatccttgtatcctgtcaCagagccatcaatgtcatgga	11	11	8	11	0	3	1	3	0	0	1	5	2	5	2	3	1	2	2	3	1	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:74324291C>A	ENST00000377044.4	-	17	3408	c.2869G>T	c.(2869-2871)Gtg>Ttg	p.V957L	TMEM2_ENST00000377066.5_Missense_Mutation_p.V894L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	957						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TATCCTGTCACAGAGCCATCA	0.448													46	62					1.0096e-33	1.47463e-33	1	0	A	74324291	C	A	74324291	3	1	119	1	0	0	0	0	1	0	0	0	16215	478	17	4	1314	4	TMEM2	9	74324291	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1803264	74324291	66889140	337	22723											
PRUNE2	158471	broad.mit.edu	37	chr9	79320286	79320286	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaggcatcgctgaaacTgtggtcaaaggcagcttcgc	10	8	12	11	2	1	2	1	2	0	0	3	2	1	2	1	3	2	4	1	3	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:79320286T>G	ENST00000428286.1	-	8	7027	c.5827A>C	c.(5827-5829)Agt>Cgt	p.S1943R	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2302R			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2302					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCGCTGAAACTGTGGTCAAAG	0.483													35	34					0	0	0	0	G	79320286	T	G	79320286	3	3	119	1	0	0	0	0	1	0	0	0	12720	1580	55	5	2410	5	PRUNE2	9	79320286	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	4995995	79320286	61893145	338	22724											
GNA14	9630	broad.mit.edu	37	chr9	80046236	80046236	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatcagggagacagacttaCcgaaagatgatgttttccaa	15	9	9	8	1	1	4	1	1	0	3	2	6	2	4	2	1	1	1	2	1	3	3	rs140029377		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:80046236C>A	ENST00000341700.6	-	4	1107		c.e4+1		GNA14_ENST00000464095.1_Splice_Site	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14						activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GACAGACTTACCGAAAGATGA	0.478													45	59					1.61004e-24	2.26031e-24	1	0	A	80046236	C	A	80046236	5	1	119	1	0	0	0	0	0	0	1	0	6553	521	18	4	489	4	GNA14	9	80046236	Splice_Site	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	725950	80046236	61167195	339	22725											
FRMD3	257019	broad.mit.edu	37	chr9	85905587	85905587	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggctgcaggggttccatgtTaatgatgagctgtttgttca	7	14	14	6	0	1	2	1	2	0	0	2	2	2	2	1	3	2	7	1	3	1	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:85905587T>A	ENST00000304195.3	-	13	1332	c.1126A>T	c.(1126-1128)Aac>Tac	p.N376Y	FRMD3_ENST00000376438.1_Missense_Mutation_p.N376Y|FRMD3_ENST00000376434.1_Missense_Mutation_p.N182Y	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	376						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GGTTCCATGTTAATGATGAGC	0.498													47	48					0	0	0	0	A	85905587	T	A	85905587	3	1	119	1	0	0	0	0	1	0	0	0	6098	1754	61	5	675	5	FRMD3	9	85905587	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	5859351	85905587	55307844	340	22726											
WNK2	65268	broad.mit.edu	37	chr9	96021458	96021458	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgccctgccggaccatTgtgccaaatgcaccggccac	8	6	10	17	2	0	0	0	0	0	0	0	1	0	1	7	2	4	1	7	2	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:96021458T>C	ENST00000297954.4	+	11	2628	c.2628T>C	c.(2626-2628)atT>atC	p.I876I	WNK2_ENST00000395477.2_Silent_p.I876I|WNK2_ENST00000349097.3_Silent_p.I488I|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.I488I|WNK2_ENST00000395475.2_3'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	876					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCGGACCATTGTGCCAAATG	0.706													25	31					0	0	0	0	C	96021458	T	C	96021458	2	2	119	1	0	0	0	0	0	0	0	1	17474	1800	63	5		5	WNK2	9	96021458	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	10115871	96021458	45191973	341	22727											
WNK2	65268	broad.mit.edu	37	chr9	96055090	96055090	+	Frame_Shift_Del	DEL	C	C	-																															ctggacgaggccccctccagCcccgacgtgaagctggcagt																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:96055090delC	ENST00000297954.4	+	23	5454	c.5454delC	c.(5452-5454)agfs	p.S1818fs	WNK2_ENST00000395477.2_Frame_Shift_Del_p.S1781fs|WNK2_ENST00000427277.2_Frame_Shift_Del_p.S1393fs|WNK2_ENST00000356055.3_Frame_Shift_Del_p.S145fs|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Frame_Shift_Del_p.S1430fs			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1818					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCCCTCCAGCCCCGACGTGA	0.706													2	4	---	---	---	---					-	96055090	C	-	96055090	7	5	119	1	0	1	0	1	0	0	0	0	17474	738	26	0	5429	0	WNK2	9	96055090	Frame_Shift_Del	DEL	C	TCGA-CN-A63U-01A-11D-A30E-08	33632	96055090	45158341	342	22728											
OR13F1	138805	broad.mit.edu	37	chr9	107267262	107267262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagtaaagccttttcaaCgtgcacagcccacctgatgg	11	9	9	12	2	1	1	1	1	0	0	2	2	1	1	3	1	4	2	3	1	4	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:107267262C>G	ENST00000334726.2	+	1	808	c.719C>G	c.(718-720)aCg>aGg	p.T240R		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCCTTTTCAACGTGCACAGCC	0.473													7	103					0	0	0	0	G	107267262	C	G	107267262	3	3	119	1	0	0	0	0	1	0	0	0	11012	536	19	3	721	3	OR13F1	9	107267262	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	11212172	107267262	33946169	343	22729											
ACTL7B	10880	broad.mit.edu	37	chr9	111618175	111618175	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagggtcaccctgagcCgtgcccaggggcatggggct	5	7	15	14	1	2	1	1	1	1	0	3	1	2	1	4	5	2	2	4	5	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:111618175C>T	ENST00000374667.3	-	1	1064	c.36G>A	c.(34-36)acG>acA	p.T12T		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	12						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CACCCTGAGCCGTGCCCAGGG	0.657													3	49					0	0	0	0	T	111618175	C	T	111618175	2	4	119	1	0	0	0	0	0	0	0	1	201	639	23	1		1	ACTL7B	9	111618175	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	4350913	111618175	29595256	344	22730											
ASTN2	23245	broad.mit.edu	37	chr9	119903718	119903718	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctccttgaacttctgcAtcagggactccactgtctcc	8	12	6	15	0	4	1	1	1	3	0	7	2	5	2	3	1	3	1	3	1	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:119903718A>G	ENST00000313400.4	-	4	1155	c.1055T>C	c.(1054-1056)aTg>aCg	p.M352T	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.M352T|ASTN2_ENST00000361209.2_Intron			O75129	ASTN2_HUMAN	astrotactin 2	352						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAACTTCTGCATCAGGGACTC	0.592													23	17					0	0	0	0	G	119903718	A	G	119903718	3	3	119	1	0	0	0	0	1	0	0	0	1069	232	8	5		5	ASTN2	9	119903718	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	8285543	119903718	21309713	345	22731											
SPTAN1	6709	broad.mit.edu	37	chr9	131351145	131351145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtcttggctctctacGactatcaggagaagagtccc	9	10	11	11	1	3	2	1	0	2	2	5	4	4	2	1	3	2	2	1	3	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:131351145G>T	ENST00000358161.5	+	21	3042	c.2929G>T	c.(2929-2931)Gac>Tac	p.D977Y	SPTAN1_ENST00000372739.3_Missense_Mutation_p.D977Y|SPTAN1_ENST00000372731.4_Missense_Mutation_p.D977Y			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	977	SH3.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGCTCTCTACGACTATCAGGA	0.512													34	25					9.17885e-22	1.26406e-21	1	0	T	131351145	G	T	131351145	3	4	119	1	0	0	0	0	1	0	0	0	15207	1058	37	3	3007	3	SPTAN1	9	131351145	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	11447427	131351145	9862286	346	22732											
ABL1	25	broad.mit.edu	37	chr9	133760654	133760654	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcagcatcctcggccctgGcaggggaccagccgtcttcc	6	7	11	17	2	2	0	1	0	1	0	5	1	4	1	5	4	2	2	5	4	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:133760654G>C	ENST00000318560.5	+	11	3358	c.2977G>C	c.(2977-2979)Gca>Cca	p.A993P		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	993	F-actin-binding.|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|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|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|SH3 domain 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)	CTCGGCCCTGGCAGGGGACCA	0.672			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								45	36					0	0	0	0	C	133760654	G	C	133760654	3	2	119	1	0	0	0	0	1	0	0	0	92	1203	42	4	3159	4	ABL1	9	133760654	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2409509	133760654	7452777	347	22733											
VAV2	7410	broad.mit.edu	37	chr9	136726538	136726538	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgctgtgcagggagagcctcGacaccgcggagatgacctgg	8	6	16	11	3	0	3	0	1	0	2	1	6	0	3	3	3	3	2	3	3	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:136726538G>C	ENST00000371851.1	-	3	663	c.338C>G	c.(337-339)tCg>tGg	p.S113W	VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000406606.3_Missense_Mutation_p.S113W|VAV2_ENST00000371850.3_Missense_Mutation_p.S113W			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	113	CH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGAGAGCCTCGACACCGCGGA	0.577													4	12					0	0	0	0	C	136726538	G	C	136726538	3	2	119	1	0	0	0	0	1	0	0	0	17228	1059	37	3	2410	3	VAV2	9	136726538	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2965884	136726538	4486893	348	22734											
SFMBT2	57713	broad.mit.edu	37	chr10	7205850	7205850	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcggaagggtcagaagcAggagtgcttggccgtcaata	10	7	15	9	3	2	1	2	0	0	1	3	3	2	3	2	4	2	2	2	4	4	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:7205850A>T	ENST00000361972.4	-	21	2657	c.2567T>A	c.(2566-2568)cTg>cAg	p.L856Q	SFMBT2_ENST00000397167.1_Missense_Mutation_p.L856Q	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	856	SAM.				regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGTCAGAAGCAGGAGTGCTTG	0.557													17	54					0	0	0	0	T	7205850	A	T	7205850	3	4	119	1	0	0	0	0	1	0	0	0	14245	188	7	5	121	5	SFMBT2	10	7205850	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08		7205850	128328897	349	22735											
CUBN	8029	broad.mit.edu	37	chr10	17085921	17085921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactagaacgaataagagggGgtttctcatccccacaaagc	14	7	9	11	1	1	2	1	0	1	2	3	3	2	2	2	2	2	1	2	2	5	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:17085921G>T	ENST00000377833.4	-	26	3799	c.3734C>A	c.(3733-3735)cCc>cAc	p.P1245H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1245	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATAAGAGGGGGTTTCTCATC	0.428													45	64					3.54909e-21	4.84149e-21	1	0	T	17085921	G	T	17085921	3	4	119	1	0	0	0	0	1	0	0	0	4083	1232	43	4	7305	4	CUBN	10	17085921	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	9880071	17085921	118448826	350	22736											
CACNB2	783	broad.mit.edu	37	chr10	18690967	18690967	+	Frame_Shift_Del	DEL	G	G	-																															cccaggcacagttggaaaaaGcaaaggtaaaatcgtttcct																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:18690967delG	ENST00000396576.2	+	2	664	c.163delG	c.(163-165)cafs	p.A55fs	CACNB2_ENST00000377331.2_Frame_Shift_Del_p.A82fs|CACNB2_ENST00000377315.4_Frame_Shift_Del_p.A62fs|CACNB2_ENST00000352115.6_Frame_Shift_Del_p.A110fs|CACNB2_ENST00000377329.4_Frame_Shift_Del_p.A56fs|CACNB2_ENST00000324631.7_Frame_Shift_Del_p.A110fs|CACNB2_ENST00000282343.8_Frame_Shift_Del_p.A82fs|CACNB2_ENST00000377328.1_Frame_Shift_Del_p.A110fs|CACNB2_ENST00000377319.3_Frame_Shift_Del_p.A55fs	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	110					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GTTGGAAAAAGCAAAGGTAAA	0.537													16	63	---	---	---	---					-	18690967	G	-	18690967	7	5	119	1	0	1	0	1	0	0	0	0	2578	971	34	0	558	0	CACNB2	10	18690967	Frame_Shift_Del	DEL	G	TCGA-CN-A63U-01A-11D-A30E-08	1605046	18690967	116843780	351	22737											
ERCC6	2074	broad.mit.edu	37	chr10	50690871	50690871	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctcggaggttattttgcatCggtgagccagacagaatgat	10	12	12	7	2	1	4	0	2	1	2	3	5	1	5	1	3	2	2	1	3	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:50690871C>G	ENST00000355832.5	-	10	2109	c.2031G>C	c.(2029-2031)ccG>ccC	p.P677P	ERCC6_ENST00000542458.1_Silent_p.P47P	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	677	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TATTTTGCATCGGTGAGCCAG	0.473								Direct reversal of damage;Nucleotide excision repair (NER)					33	39					0	0	0	0	G	50690871	C	G	50690871	2	3	119	1	0	0	0	0	0	0	0	1	5255	871	31	3		3	ERCC6	10	50690871	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	31999904	50690871	84843876	352	22738											
CDHR1	92211	broad.mit.edu	37	chr10	85960372	85960372	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggacatacctgctgggAgcatcatctttaaggtccat	10	11	9	11	0	3	0	2	0	1	0	4	2	4	2	2	3	3	2	2	3	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:85960372A>T	ENST00000372117.3	+	6	557	c.454A>T	c.(454-456)Agc>Tgc	p.S152C	CDHR1_ENST00000332904.3_Missense_Mutation_p.S152C	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	152	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCTGCTGGGAGCATCATCTT	0.582													6	9					0	0	0	0	T	85960372	A	T	85960372	3	4	119	1	0	0	0	0	1	0	0	0	3147	304	11	5	476	5	CDHR1	10	85960372	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	35269501	85960372	49574375	353	22739											
LRIT2	340745	broad.mit.edu	37	chr10	85984195	85984195	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtcctgcccggatggtGatattggcactgggggttga	5	13	15	8	1	1	2	0	2	1	0	2	3	2	3	2	5	1	2	2	5	1	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:85984195G>T	ENST00000372113.4	-	2	791	c.786C>A	c.(784-786)atC>atA	p.I262I	LRIT2_ENST00000538192.1_Silent_p.I262I	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	262	Ig-like.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCCGGATGGTGATATTGGCAC	0.532													34	33					1.45844e-13	1.7994e-13	1	0	T	85984195	G	T	85984195	2	4	119	1	0	0	0	0	0	0	0	1	9012	1280	45	2		2	LRIT2	10	85984195	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	23823	85984195	49550552	354	22740											
LRIT1	26103	broad.mit.edu	37	chr10	85992184	85992184	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtagaggacactgaaggcAgttgtgttcttagcctgggg	8	10	16	7	1	1	2	0	1	1	1	1	3	1	3	1	4	1	4	1	4	3	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:85992184A>G	ENST00000372105.3	-	4	1392	c.1371T>C	c.(1369-1371)acT>acC	p.T457T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	457	Fibronectin type-III.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CACTGAAGGCAGTTGTGTTCT	0.592													13	10					0	0	0	0	G	85992184	A	G	85992184	2	3	119	1	0	0	0	0	0	0	0	1	9011	175	7	5		5	LRIT1	10	85992184	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	7989	85992184	49542563	355	22741											
AGAP11	119385	broad.mit.edu	37	chr10	88761384	88761384	+	RNA	DEL	C	C	-																															gtttgacttacacttcccttCcccttcaggtatctactgag																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:88761384delC	ENST00000444431.1	+	0	2514				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CACTTCCCTTCCCCTTCAGGT	0.388													42	39	---	---	---	---					-	88761384	C	-	88761384	6	5	119	0	1	1	0	1	0	0	0	0	367	870	30	0		0	AGAP11	10	88761384	RNA	DEL	C	TCGA-CN-A63U-01A-11D-A30E-08	2769200	88761384	46773363	356	22742											
ACTA2	59	broad.mit.edu	37	chr10	90703570	90703570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttgagtcattttctccCggttggccttggggttcagg	4	16	12	9	1	3	1	2	1	1	0	4	1	3	1	2	5	1	2	2	5	1	7	rs112602953		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:90703570C>T	ENST00000458208.1	-	4	827	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Missense_Mutation_p.R118Q	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	118			R -> Q (in AAT6).		response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CATTTTCTCCCGGTTGGCCTT	0.537													30	28					0	0	0	0	T	90703570	C	T	90703570	3	4	119	1	0	0	0	0	1	0	0	0	192	652	23	1	804	1	ACTA2	10	90703570	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1942186	90703570	44831177	357	22743											
IFIT1	3434	broad.mit.edu	37	chr10	91163206	91163206	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcggtttcaggaatttcaaAagaaatctgacgtcaatgca	14	11	9	7	2	4	2	3	1	1	1	5	3	4	3	0	2	1	2	0	2	5	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:91163206A>G	ENST00000546318.1	+	2	2368	c.1081A>G	c.(1081-1083)Aag>Gag	p.K361E	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.K392E	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	392					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GGAATTTCAAAAGAAATCTGA	0.308													22	17					0	0	0	0	G	91163206	A	G	91163206	3	3	119	1	0	0	0	0	1	0	0	0	7574	15	1	5	1180	5	IFIT1	10	91163206	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	459636	91163206	44371541	358	22744											
HECTD2	143279	broad.mit.edu	37	chr10	93221098	93221098	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgattctttcccagaattAaatgctgcatttaaggtaat	12	17	6	6	0	1	2	0	1	1	1	2	2	2	2	1	1	2	3	1	1	5	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:93221098A>C	ENST00000446394.1	+	4	595	c.495A>C	c.(493-495)ttA>ttC	p.L165F	HECTD2_ENST00000371681.4_Missense_Mutation_p.L165F|HECTD2_ENST00000298068.5_Missense_Mutation_p.L165F			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	165					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TCCCAGAATTAAATGCTGCAT	0.279													40	39					0	0	0	0	C	93221098	A	C	93221098	3	2	119	1	0	0	0	0	1	0	0	0	7090	359	13	5	509	5	HECTD2	10	93221098	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	2057892	93221098	42313649	359	22745											
ENTPD1	953	broad.mit.edu	37	chr10	97625949	97625949	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatccagggcagcgacGccggctggactttgggctac	7	7	15	12	3	0	1	0	0	0	1	1	3	1	2	2	4	3	4	2	4	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:97625949G>C	ENST00000371203.5	+	9	1515	c.928G>C	c.(928-930)Gcc>Ccc	p.A310P	ENTPD1_ENST00000371205.4_Missense_Mutation_p.A448P|ENTPD1_ENST00000453258.2_Missense_Mutation_p.A455P|ENTPD1-AS1_ENST00000451364.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.A460P|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Missense_Mutation_p.A310P|RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1_ENST00000543964.1_Missense_Mutation_p.A340P	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	448					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGGCAGCGACGCCGGCTGGAC	0.502													9	4					0	0	0	0	C	97625949	G	C	97625949	3	2	119	1	0	0	0	0	1	0	0	0	5176	1087	38	3	1477	3	ENTPD1	10	97625949	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	4404851	97625949	37908798	360	22746											
DNMBP	23268	broad.mit.edu	37	chr10	101715869	101715869	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtaggctggcatagtcTctagtccttgcttctagggg	6	12	15	8	0	2	0	0	0	2	0	4	1	3	1	1	6	1	4	1	6	4	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:101715869T>A	ENST00000342239.3	-	4	1453	c.1362A>T	c.(1360-1362)agA>agT	p.R454S	DNMBP_ENST00000324109.4_Missense_Mutation_p.R454S|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	454					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGGCATAGTCTCTAGTCCTTG	0.493													77	52					0	0	0	0	A	101715869	T	A	101715869	3	1	119	1	0	0	0	0	1	0	0	0	4710	1548	54	5	3427	5	DNMBP	10	101715869	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	4089920	101715869	33818878	361	22747											
CPXM2	119587	broad.mit.edu	37	chr10	125506285	125506285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcccaggagggtcaccCacgctgtcgtctcttctgcc	6	8	12	15	2	3	0	1	0	2	0	5	1	3	1	3	3	1	1	3	3	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:125506285C>A	ENST00000241305.3	-	14	2420	c.2266G>T	c.(2266-2268)Ggg>Tgg	p.G756W	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	756					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GAGGGTCACCCACGCTGTCGT	0.582													33	35					6.00712e-18	7.95449e-18	1	0	A	125506285	C	A	125506285	3	1	119	1	0	0	0	0	1	0	0	0	3868	594	21	4	8	4	CPXM2	10	125506285	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	23790416	125506285	10028462	362	22748											
HBG2	3048	broad.mit.edu	37	chr11	5275521	5275521	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaacatctcctggactcaCcttgaagttctcaggatcca	11	11	7	12	0	3	2	2	2	2	0	6	4	4	4	3	2	1	1	3	2	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:5275521C>A	ENST00000380259.2	-	7	1556		c.e7+1		HBG2_ENST00000380252.1_Splice_Site|HBG2_ENST00000336906.4_Splice_Site					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGACTCACCTTGAAGTTC	0.498													28	45					1.08312e-15	1.38847e-15	1	0	A	5275521	C	A	5275521	5	1	119	1	0	0	0	0	0	0	1	0	7033	521	18	4	135	4	HBG2	11	5275521	Splice_Site	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08		5275521	129730995	363	22749											
OR52N4	390072	broad.mit.edu	37	chr11	5776890	5776890	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagatacgagactgtgtcaTaaggatcctttcaggttcta	12	12	9	8	1	3	2	2	0	1	2	4	4	4	3	1	2	1	1	1	2	3	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:5776890T>G	ENST00000317254.3	+	1	968	c.920T>G	c.(919-921)aTa>aGa	p.I307R	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GACTGTGTCATAAGGATCCTT	0.418													40	32					0	0	0	0	G	5776890	T	G	5776890	3	3	119	1	0	0	0	0	1	0	0	0	11200	1406	49	5	922	5	OR52N4	11	5776890	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	501369	5776890	129229626	364	22750											
OR52E6	390078	broad.mit.edu	37	chr11	5862348	5862348	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggccaaagcagtgtgtaaaGaaagagaaaaatgctggtgt	16	8	13	4	0	0	2	0	0	0	2	0	3	0	2	1	2	2	3	1	2	6	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:5862348G>A	ENST00000329322.5	-	1	779	c.780C>T	c.(778-780)ttC>ttT	p.F260F	OR52E6_ENST00000379946.2_Silent_p.F264F|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGTGTAAAGAAAGAGAAAA	0.443													23	20					0	0	0	0	A	5862348	G	A	5862348	2	1	119	1	0	0	0	0	0	0	0	1	11188	933	33	2		2	OR52E6	11	5862348	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	85458	5862348	129144168	365	22751											
NLRP14	338323	broad.mit.edu	37	chr11	7064078	7064078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgaagaacctgagtttgCactgtgcgaagactggaccc	10	10	11	10	1	0	4	0	2	0	2	0	6	0	5	2	1	3	2	2	1	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:7064078C>A	ENST00000299481.4	+	4	1167	c.821C>A	c.(820-822)gCa>gAa	p.A274E		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	274	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCTGAGTTTGCACTGTGCGAA	0.458													53	33					6.4308e-24	8.99317e-24	1	0	A	7064078	C	A	7064078	3	1	119	1	0	0	0	0	1	0	0	0	10546	710	25	4	831	4	NLRP14	11	7064078	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1201730	7064078	127942438	366	22752											
NLRP10	338322	broad.mit.edu	37	chr11	7981203	7981204	+	Frame_Shift_Ins	INS	-	-	T																															attaggtttatatgtaagtaINSttttttggtgtttcctctgt																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:7981203_7981204insT	ENST00000328600.2	-	2	2116_2117	c.1955_1956insA	c.(1954-1956)aacfs	p.N652fs		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	652							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		atatgtaagtatttTTTGGTGT	0.376													19	25	---	---	---	---					T	7981204	-	T	7981203	7	5	119	1	0	1	1	0	0	0	0	0	10542	446	16	0	15	0	NLRP10	11	7981203	Frame_Shift_Ins	INS	-	TCGA-CN-A63U-01A-11D-A30E-08	917125	7981203	127025313	367	22753											
ST5	6764	broad.mit.edu	37	chr11	8739408	8739408	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcggctctttaagtccacAtcctcatatggattctcctt	7	16	5	13	1	3	0	1	0	2	0	7	1	5	1	3	2	0	1	3	2	2	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:8739408A>G	ENST00000534127.1	-	8	1894	c.1509T>C	c.(1507-1509)gaT>gaC	p.D503D	ST5_ENST00000313726.6_Silent_p.D503D|ST5_ENST00000526757.1_Silent_p.D83D|ST5_ENST00000357665.1_Silent_p.D503D|ST5_ENST00000526099.1_Silent_p.D16D|ST5_ENST00000530438.1_Silent_p.D83D|ST5_ENST00000530991.1_5'UTR	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	503					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTAAGTCCACATCCTCATATG	0.502													24	17					0	0	0	0	G	8739408	A	G	8739408	2	3	119	1	0	0	0	0	0	0	0	1	15310	214	8	5		5	ST5	11	8739408	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	758205	8739408	126267108	368	22754											
HTATIP2	10553	broad.mit.edu	37	chr11	20403774	20403774	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatttgatcgttactctgtAtttaggcctgggtaagtata	11	16	9	5	1	1	1	0	1	1	0	2	1	1	1	1	2	1	4	1	2	7	8			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:20403774A>G	ENST00000451739.2	+	4	933	c.492A>G	c.(490-492)gtA>gtG	p.V164V	HTATIP2_ENST00000443524.2_Silent_p.V164V|HTATIP2_ENST00000531058.1_Silent_p.V118V|HTATIP2_ENST00000421577.2_Silent_p.V164V|HTATIP2_ENST00000419348.2_Silent_p.V198V	NM_001098522.1	NP_001091992.1	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa	164					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity			large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GTTACTCTGTATTTAGGCCTG	0.358													22	9					0	0	0	0	G	20403774	A	G	20403774	2	3	119	1	0	0	0	0	0	0	0	1	7485	436	16	5		5	HTATIP2	11	20403774	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	11664366	20403774	114602742	369	22755											
TRAF6	7189	broad.mit.edu	37	chr11	36520173	36520173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttcattgtcaactggaCatttgtgacctgcatcccta	9	15	7	10	0	2	1	2	1	0	0	3	2	3	2	2	1	2	2	2	1	3	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:36520173C>T	ENST00000526995.1	-	3	560	c.314G>A	c.(313-315)tGt>tAt	p.C105Y	TRAF6_ENST00000348124.5_Missense_Mutation_p.C105Y	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	105	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GTCAACTGGACATTTGTGACC	0.323													20	16					0	0	0	0	T	36520173	C	T	36520173	3	4	119	1	0	0	0	0	1	0	0	0	16540	478	17	4	1274	4	TRAF6	11	36520173	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	16116399	36520173	98486343	370	22756											
OR4A15	81328	broad.mit.edu	37	chr11	55135409	55135409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcactgacccttttgtttGtaggctccgacacctgagtc	7	14	8	12	1	1	2	1	2	0	0	3	3	2	2	3	1	0	3	3	1	2	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:55135409G>A	ENST00000314706.3	+	1	50	c.50G>A	c.(49-51)tGt>tAt	p.C17Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCTTTTGTTTGTAGGCTCCGA	0.433													18	35					0	0	0	0	A	55135409	G	A	55135409	3	1	119	1	0	0	0	0	1	0	0	0	11111	1377	48	4	52	4	OR4A15	11	55135409	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	18615236	55135409	79871107	371	22757											
OR5AS1	219447	broad.mit.edu	37	chr11	55798824	55798824	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctattagaaagaattggataTtcaaatgaatggtatttaaa	18	14	7	2	0	1	3	1	1	0	2	1	4	1	4	0	2	0	1	0	2	10	8			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:55798824T>C	ENST00000313555.1	+	1	930	c.930T>C	c.(928-930)taT>taC	p.Y310Y		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	310			Y -> C (in dbSNP:rs17600939).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GAATTGGATATTCAAATGAAT	0.279													23	37					0	0	0	0	C	55798824	T	C	55798824	2	2	119	1	0	0	0	0	0	0	0	1	11217	1500	52	5		5	OR5AS1	11	55798824	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	663415	55798824	79207692	372	22758											
OR8H1	219469	broad.mit.edu	37	chr11	56058145	56058145	+	Missense_Mutation	SNP	G	G	T																															ccttttggacataataactgGgtaacgtagaggactgcaga																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:56058145G>T	ENST00000313022.2	-	1	421	c.394C>A	c.(394-396)Cca>Aca	p.P132T		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					ATAATAACTGGGTAACGTAGA	0.443													10	109					7.13841e-38	1.06195e-37	1	0	T	56058145	G	T	56058145	3	4	119	1	0	0	0	0	1	0	0	0	11308	1232	43	4	543	4	OR8H1	11	56058145	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	259321	56058145	78948371	373	22759	188	2									
OR8H1	219469	broad.mit.edu	37	chr11	56058149	56058149	+	Silent	SNP	A	A	G																															ttggacataataactgggtaAcgtagaggactgcagatagc																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:56058149A>G	ENST00000313022.2	-	1	417	c.390T>C	c.(388-390)cgT>cgC	p.R130R		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TAACTGGGTAACGTAGAGGAC	0.443													8	108					0	0	0	0	G	56058149	A	G	56058149	2	3	119	1	0	0	0	0	0	0	0	1	11308	30	2	5		5	OR8H1	11	56058149	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	4	56058149	78948367	374	22760	188	2									
OR8H1	219469	broad.mit.edu	37	chr11	56058167	56058167	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taacgtagaggactgcagatAgctacgtagcgatcataggc	13	8	12	8	3	1	2	1	0	0	2	1	4	1	3	0	2	5	4	0	2	6	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:56058167A>C	ENST00000313022.2	-	1	399	c.372T>G	c.(370-372)gcT>gcG	p.A124A		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GACTGCAGATAGCTACGTAGC	0.448													8	121					0	0	0	0	C	56058167	A	C	56058167	2	2	119	1	0	0	0	0	0	0	0	1	11308	407	15	5		5	OR8H1	11	56058167	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	18	56058167	78948349	375	22761											
OR9Q1	219956	broad.mit.edu	37	chr11	57947506	57947506	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagctacactcaagaagTgctgattattatgtttgcca	12	12	10	7	0	1	3	1	1	0	2	1	4	1	3	1	1	4	3	1	1	5	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:57947506T>A	ENST00000335397.3	+	3	906	c.590T>A	c.(589-591)gTg>gAg	p.V197E		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				ACTCAAGAAGTGCTGATTATT	0.463													48	73					0	0	0	0	A	57947506	T	A	57947506	3	1	119	1	0	0	0	0	1	0	0	0	11326	1696	59	5	592	5	OR9Q1	11	57947506	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	1889339	57947506	77059010	376	22762											
OR1S1	219959	broad.mit.edu	37	chr11	57983029	57983029	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacggaaccattgtaggcgtGtactttttcccctcctccac	7	13	7	14	2	0	0	0	0	0	0	3	1	3	1	5	2	3	2	5	2	4	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:57983029G>T	ENST00000309433.6	+	1	813	c.813G>T	c.(811-813)gtG>gtT	p.V271V		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TTGTAGGCGTGTACTTTTTCC	0.483													30	85					1.08312e-15	1.38847e-15	1	0	T	57983029	G	T	57983029	2	4	119	1	0	0	0	0	0	0	0	1	11043	1364	48	4		4	OR1S1	11	57983029	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	35523	57983029	77023487	377	22763											
GLYATL1	92292	broad.mit.edu	37	chr11	58714638	58714638	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatccctgagtccctgaaGgtcagggaacagtgggaggt	10	7	15	9	0	1	2	1	2	0	0	3	4	3	4	2	4	2	1	2	4	2	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:58714638G>C	ENST00000317391.4	+	4	418	c.78_splice	c.e4+1	p.K26_splice	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Intron	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	26						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AGTCCCTGAAGGTCAGGGAAC	0.512													17	31					0	0	0	0	C	58714638	G	C	58714638	5	2	119	1	0	0	0	0	0	0	1	0	6531	1015	35	4		4	GLYATL1	11	58714638	Splice_Site	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	731609	58714638	76291878	378	22764											
MPEG1	219972	broad.mit.edu	37	chr11	58978655	58978655	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagggctgggtgctggcTgaagcccccggggcactttt	5	9	17	10	1	0	2	0	2	0	0	0	3	0	2	2	5	2	4	2	5	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:58978655T>A	ENST00000361050.3	-	1	1769	c.1684A>T	c.(1684-1686)Agc>Tgc	p.S562C		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	562						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGGTGCTGGCTGAAGCCCCCG	0.597													39	94					0	0	0	0	A	58978655	T	A	58978655	3	1	119	1	0	0	0	0	1	0	0	0	9793	1580	55	5	470	5	MPEG1	11	58978655	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	264017	58978655	76027861	379	22765											
MS4A2	2206	broad.mit.edu	37	chr11	59860322	59860322	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagaaatgcaacatatctgGtgagttgcccgtttctgtct	9	13	11	8	1	3	2	0	1	3	1	3	3	3	2	1	2	3	3	1	2	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:59860322G>C	ENST00000278888.3	+	4	480		c.e4+1			NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2						cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AACATATCTGGTGAGTTGCCC	0.348													13	20					0	0	0	0	C	59860322	G	C	59860322	5	2	119	1	0	0	0	0	0	0	1	0	9930	1275	44	4	393	4	MS4A2	11	59860322	Splice_Site	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	881667	59860322	75146194	380	22766											
AHNAK	79026	broad.mit.edu	37	chr11	62292621	62292622	+	Frame_Shift_Ins	INS	-	-	G																															atgtcaggcatggagatcttINSgggggctttgatgttcatct																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:62292621_62292622insG	ENST00000378024.4	-	5	9541_9542	c.9267_9268insC	c.(9265-9270)ccagatfs	p.D3090fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3090					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGGAGATCTTGGGGGCTTTGA	0.46													157	324	---	---	---	---					G	62292622	-	G	62292621	7	5	119	1	0	1	1	0	0	0	0	0	414	1821	63	0	8524	0	AHNAK	11	62292621	Frame_Shift_Ins	INS	-	TCGA-CN-A63U-01A-11D-A30E-08	2432299	62292621	72713895	381	22767											
NPAS4	266743	broad.mit.edu	37	chr11	66192145	66192145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggccctagcccagctccGgggccccctctctgtggatg	3	9	12	17	1	1	0	0	0	1	0	3	1	2	1	5	4	2	1	5	4	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:66192145G>A	ENST00000311034.2	+	7	1960	c.1784G>A	c.(1783-1785)cGg>cAg	p.R595Q		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	595					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCCCAGCTCCGGGGCCCCCTC	0.592													88	126					0	0	0	0	A	66192145	G	A	66192145	3	1	119	1	0	0	0	0	1	0	0	0	10635	1116	39	1	1810	1	NPAS4	11	66192145	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3899524	66192145	68814371	382	22768											
CABP4	57010	broad.mit.edu	37	chr11	67223911	67223911	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcagcacatcaagatgcGcagtcagtcagggagcccgc	10	5	12	14	3	3	1	3	0	0	1	4	2	3	2	1	1	3	3	1	1	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:67223911G>C	ENST00000438189.2	+	4	568	c.224G>C	c.(223-225)cGc>cCc	p.R75P	CABP4_ENST00000325656.5_Missense_Mutation_p.R180P			P57796	CABP4_HUMAN	calcium binding protein 4	180					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			ATCAAGATGCGCAGTCAGTCA	0.672													20	38					0	0	0	0	C	67223911	G	C	67223911	3	2	119	1	0	0	0	0	1	0	0	0	2558	1087	38	3	549	3	CABP4	11	67223911	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1031766	67223911	67782605	383	22769											
MYO7A	4647	broad.mit.edu	37	chr11	76890166	76890166	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcacaactgtaggaagaaCtacgggctggtgagcctccc	10	7	13	11	1	1	2	1	1	0	1	2	3	2	3	2	4	4	2	2	4	5	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:76890166C>G	ENST00000409709.3	+	20	2630	c.2358C>G	c.(2356-2358)aaC>aaG	p.N786K	MYO7A_ENST00000409619.2_Missense_Mutation_p.N775K|MYO7A_ENST00000458637.2_Missense_Mutation_p.N786K|MYO7A_ENST00000409893.1_Missense_Mutation_p.N786K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	786	IQ 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTAGGAAGAACTACGGGCTGG	0.597													6	9					0	0	0	0	G	76890166	C	G	76890166	3	3	119	1	0	0	0	0	1	0	0	0	10152	564	20	4	2432	4	MYO7A	11	76890166	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	9666255	76890166	58116350	384	22770											
DLG2	1740	broad.mit.edu	37	chr11	84027932	84027932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacaagtccctttgcccttgGtgctcgtcttgtgggggctt	3	14	12	12	1	1	0	0	0	1	0	3	0	2	0	2	3	2	2	2	3	1	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:84027932G>C	ENST00000280241.8	-	1	256	c.257C>G	c.(256-258)aCc>aGc	p.T86S	DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.T86S	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTTGCCCTTGGTGCTCGTCTT	0.577													28	47					0	0	0	0	C	84027932	G	C	84027932	3	2	119	1	0	0	0	0	1	0	0	0	4592	1276	44	4		4	DLG2	11	84027932	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	7137766	84027932	50978584	385	22771											
FAT3	120114	broad.mit.edu	37	chr11	92620259	92620259	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctcagctccttccagtCagattctggtgacgacaatg	8	11	9	13	1	3	2	2	1	1	1	6	3	6	2	3	1	1	1	3	1	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:92620259C>A	ENST00000298047.6	+	24	13048	c.13031C>A	c.(13030-13032)tCa>tAa	p.S4344*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.S4344*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.S4194*|FAT3_ENST00000533797.1_Nonsense_Mutation_p.S679*|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4344					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCTTCCAGTCAGATTCTGGT	0.512										TCGA Ovarian(4;0.039)			6	16					0.00198382	0.002049	1	0	A	92620259	C	A	92620259	4	1	119	1	0	0	0	0	0	1	0	0	5736	838	29	2	13125	2	FAT3	11	92620259	Nonsense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	8592327	92620259	42386257	386	22772											
MMP20	9313	broad.mit.edu	37	chr11	102464297	102464297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggaggaccttgcatttGgaatcctcttgttatccagt	8	13	10	10	1	1	0	0	0	1	0	3	4	3	3	4	3	1	2	4	3	2	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:102464297G>T	ENST00000260228.2	-	8	1132	c.1120C>A	c.(1120-1122)Caa>Aaa	p.Q374K		NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	374	Hemopexin-like 2.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CCTTGCATTTGGAATCCTCTT	0.443													28	57					1.32181e-22	1.83782e-22	1	0	T	102464297	G	T	102464297	3	4	119	1	0	0	0	0	1	0	0	0	9728	1357	47	4	343	4	MMP20	11	102464297	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	9844038	102464297	32542219	387	22773											
MMP20	9313	broad.mit.edu	37	chr11	102477335	102477335	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgagctggagtcacagAggtcagggatggatggcttg	10	8	18	5	0	2	2	2	1	0	1	2	6	2	6	0	6	1	2	0	6	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:102477335A>C	ENST00000260228.2	-	6	896	c.884T>G	c.(883-885)cTc>cGc	p.L295R	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	295					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GGAGTCACAGAGGTCAGGGAT	0.542													33	58					0	0	0	0	C	102477335	A	C	102477335	3	2	119	1	0	0	0	0	1	0	0	0	9728	304	11	5	587	5	MMP20	11	102477335	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	13038	102477335	32529181	388	22774											
SLC35F2	54733	broad.mit.edu	37	chr11	107686528	107686528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgacatacctgatcgaaatgCcagcatcactgtataaatta	15	11	6	9	1	1	2	1	2	0	0	2	3	1	2	2	0	3	2	2	0	6	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:107686528C>T	ENST00000525071.1	-	5	862	c.274G>A	c.(274-276)Gca>Aca	p.A92T	SLC35F2_ENST00000429869.1_Missense_Mutation_p.A92T|SLC35F2_ENST00000525815.1_Missense_Mutation_p.A92T|SLC35F2_ENST00000375682.4_Missense_Mutation_p.A45T|SLC35F2_ENST00000265836.7_Intron			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	92					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GATCGAAATGCCAGCATCACT	0.348													69	111					0	0	0	0	T	107686528	C	T	107686528	3	4	119	1	0	0	0	0	1	0	0	0	14677	739	26	4	878	4	SLC35F2	11	107686528	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	5209193	107686528	27319988	389	22775											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035858	110035858	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcagaatttccacgaccCcttaaccagagggcaaagtt	12	8	8	13	1	0	2	0	0	0	2	1	3	1	2	5	1	2	3	5	1	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:110035858C>G	ENST00000453089.2	+	5	2836	c.1955C>G	c.(1954-1956)cCc>cGc	p.P652R	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.P683R|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.P684R			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	683							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTCCACGACCCCTTAACCAGA	0.557													105	277					0	0	0	0	G	110035858	C	G	110035858	3	3	119	1	0	0	0	0	1	0	0	0	17658	623	22	4	2070	4	ZC3H12C	11	110035858	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2349330	110035858	24970658	390	22776											
DSCAML1	57453	broad.mit.edu	37	chr11	117389278	117389278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggatctgggggcctgtgacGttcatgtggctgatggtggt	4	12	18	7	2	2	2	1	2	1	0	2	3	2	3	1	6	0	2	1	6	0	1	rs146015983		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:117389278G>T	ENST00000321322.6	-	7	1594	c.1593C>A	c.(1591-1593)aaC>aaA	p.N531K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.N261K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	471	Ig-like C2-type 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGCCTGTGACGTTCATGTGGC	0.632													30	66					4.15321e-07	4.61965e-07	1	0	T	117389278	G	T	117389278	3	4	119	1	0	0	0	0	1	0	0	0	4805	1136	40	3	4856	3	DSCAML1	11	117389278	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	7353420	117389278	17617238	391	22777											
POU2F3	25833	broad.mit.edu	37	chr11	120180296	120180296	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtctacaactcccggctgGtgagtggccaggaaccaagc	9	7	12	13	1	1	1	0	1	1	0	2	2	2	2	3	4	4	1	3	4	4	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:120180296G>T	ENST00000260264.4	+	10	1108		c.e10+1		POU2F3_ENST00000543440.2_Splice_Site	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3						negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CTCCCGGCTGGTGAGTGGCCA	0.577													23	32					7.92952e-12	9.55507e-12	1	0	T	120180296	G	T	120180296	5	4	119	1	0	0	0	0	0	0	1	0	12344	1275	44	4	1107	4	POU2F3	11	120180296	Splice_Site	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2791018	120180296	14826220	392	22778											
GRAMD1B	57476	broad.mit.edu	37	chr11	123477329	123477329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctccagtttgatgggctgCccctggaggaagaggcgctg	6	8	17	10	1	0	2	0	1	0	1	1	4	1	4	3	5	1	4	3	5	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:123477329C>A	ENST00000529750.1	+	10	1234	c.907C>A	c.(907-909)Ccc>Acc	p.P303T	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.P310T|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.P303T	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	303						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TGATGGGCTGCCCCTGGAGGA	0.562													9	10					0.00448238	0.00459031	1	0	A	123477329	C	A	123477329	3	1	119	1	0	0	0	0	1	0	0	0	6798	739	26	4	945	4	GRAMD1B	11	123477329	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	3297033	123477329	11529187	393	22779											
ZNF202	7753	broad.mit.edu	37	chr11	123601242	123601242	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaaccctccaccagcgTcactgcctcctcgccacttt	7	9	5	20	2	1	0	1	0	0	0	4	0	3	0	6	0	4	1	6	0	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:123601242T>C	ENST00000336139.4	-	3	717	c.355A>G	c.(355-357)Acg>Gcg	p.T119A	ZNF202_ENST00000529691.1_Missense_Mutation_p.T119A|ZNF202_ENST00000530393.1_Missense_Mutation_p.T119A			O95125	ZN202_HUMAN	zinc finger protein 202	119	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCCACCAGCGTCACTGCCTCC	0.582													18	141					0	0	0	0	C	123601242	T	C	123601242	3	2	119	1	0	0	0	0	1	0	0	0	17858	1667	58	5	1615	5	ZNF202	11	123601242	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	123913	123601242	11405274	394	22780											
VWA5A	4013	broad.mit.edu	37	chr11	124006999	124006999	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgaccgggaggatgcCagtgagttcccattcttatt	8	11	11	11	1	1	2	0	2	1	0	2	4	2	4	4	2	2	2	4	2	1	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:124006999C>A	ENST00000456829.2	+	13	1774	c.1524_splice	c.e13+1	p.P508_splice	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Splice_Site_p.P508_splice	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	508										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GGGAGGATGCCAGTGAGTTCC	0.483													6	35					0.0293803	0.0296676	1	0	A	124006999	C	A	124006999	5	1	119	1	0	0	0	0	0	0	1	0	17338	608	21	4	1569	4	VWA5A	11	124006999	Splice_Site	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	405757	124006999	10999517	395	22781											
KCNJ5	3762	broad.mit.edu	37	chr11	128782056	128782056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggctcagctgcatcaGgaagagtttgaagttgtggt	9	12	13	7	0	3	2	3	1	1	1	4	3	3	3	0	3	2	5	0	3	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:128782056G>A	ENST00000529694.1	+	2	1264	c.888G>A	c.(886-888)caG>caA	p.Q296Q	KCNJ5_ENST00000338350.4_Silent_p.Q296Q|KCNJ5_ENST00000533599.1_Silent_p.Q296Q	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	296					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AGCTGCATCAGGAAGAGTTTG	0.542													61	119					0	0	0	0	A	128782056	G	A	128782056	2	1	119	1	0	0	0	0	0	0	0	1	8107	991	35	4		4	KCNJ5	11	128782056	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	4775057	128782056	6224460	396	22782											
KCNA6	3742	broad.mit.edu	37	chr12	4919539	4919539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgcctgcggaggccggtcaAcgtgcccctggacattttcc	5	8	12	16	4	1	0	1	0	0	0	2	2	2	2	6	4	3	0	6	4	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:4919539A>G	ENST00000433855.1	+	1	1198	c.332A>G	c.(331-333)aAc>aGc	p.N111S	KCNA6_ENST00000280684.3_Missense_Mutation_p.N111S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	111						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						AGGCCGGTCAACGTGCCCCTG	0.662										HNSCC(72;0.22)			38	90					0	0	0	0	G	4919539	A	G	4919539	3	3	119	1	0	0	0	0	1	0	0	0	8060	43	2	5	334	5	KCNA6	12	4919539	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08		4919539	128932356	397	22783											
ANO2	57101	broad.mit.edu	37	chr12	6031869	6031869	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacctggggcccggggacCtggcatcttgagacactgct	7	7	14	13	1	1	2	0	1	1	2	1	4	1	3	3	5	1	2	3	5	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:6031869C>A	ENST00000356134.5	-	2	183	c.112G>T	c.(112-114)Ggt>Tgt	p.G38C	ANO2_ENST00000327087.8_Missense_Mutation_p.G38C|ANO2_ENST00000546188.1_Missense_Mutation_p.G38C	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	42						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCCCGGGGACCTGGCATCTTG	0.682													3	10					0.00909568	0.0092362	1	0	A	6031869	C	A	6031869	3	1	119	1	0	0	0	0	1	0	0	0	696	681	24	4	2984	4	ANO2	12	6031869	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1112330	6031869	127820026	398	22784											
ENO2	2026	broad.mit.edu	37	chr12	7031310	7031310	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcattgctgacctggtggtgGggctgtgcacaggccaggtg	5	10	17	9	0	1	1	1	1	0	0	1	1	1	1	2	6	2	3	2	6	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:7031310G>C	ENST00000535366.1	+	9	1785	c.1159G>C	c.(1159-1161)Ggg>Cgg	p.G387R	ENO2_ENST00000541477.1_Missense_Mutation_p.G387R|ENO2_ENST00000229277.1_Missense_Mutation_p.G387R|ENO2_ENST00000544774.1_Missense_Mutation_p.G344R|ENO2_ENST00000538763.1_Missense_Mutation_p.G344R|ENO2_ENST00000545045.2_Missense_Mutation_p.G268R|ENO2_ENST00000534977.1_Intron			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	387					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCTGGTGGTGGGGCTGTGCAC	0.572													19	77					0	0	0	0	C	7031310	G	C	7031310	3	2	119	1	0	0	0	0	1	0	0	0	5160	1232	43	4	1193	4	ENO2	12	7031310	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	999441	7031310	126820585	399	22785											
PEX5	5830	broad.mit.edu	37	chr12	7361164	7361164	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accctacgagactggctgcgGtacacaccagcctatgccca	10	6	9	16	2	0	1	0	0	0	1	0	2	0	1	4	2	5	2	4	2	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:7361164G>A	ENST00000266563.5	+	12	1365	c.1182G>A	c.(1180-1182)cgG>cgA	p.R394R	PEX5_ENST00000434354.2_Silent_p.R446R|PEX5_ENST00000455147.2_Silent_p.R431R|PEX5_ENST00000412720.2_Silent_p.R452R|PEX5_ENST00000266564.3_Silent_p.R423R|PEX5_ENST00000420616.2_Silent_p.R431R	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	431					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						ACTGGCTGCGGTACACACCAG	0.592													48	78					0	0	0	0	A	7361164	G	A	7361164	2	1	119	1	0	0	0	0	0	0	0	1	11820	1248	44	4		4	PEX5	12	7361164	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	329854	7361164	126490731	400	22786											
KLRC1	3821	broad.mit.edu	37	chr12	10601978	10601978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctcaggacaatggccaCaatgacgtgctaaataaaga	16	7	8	10	1	1	2	1	1	0	1	2	3	2	3	2	2	1	1	2	2	6	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:10601978C>T	ENST00000544822.1	-	6	734	c.347G>A	c.(346-348)tGt>tAt	p.C116Y	KLRC1_ENST00000359151.3_Missense_Mutation_p.C116Y|KLRC1_ENST00000347831.5_Missense_Mutation_p.C98Y|KLRC1_ENST00000536188.1_Missense_Mutation_p.C116Y|KLRC1_ENST00000408006.3_Missense_Mutation_p.C98Y	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	116					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						ACAATGGCCACAATGACGTGC	0.343													82	130					0	0	0	0	T	10601978	C	T	10601978	3	4	119	1	0	0	0	0	1	0	0	0	8467	478	17	4	366	4	KLRC1	12	10601978	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	3240814	10601978	123249917	401	22787											
MRPS35	60488	broad.mit.edu	37	chr12	27908240	27908240	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagctgctgagaaaaatatgGaaataaataaagaagagctc	21	7	9	4	0	0	3	0	1	0	3	1	5	0	4	0	1	3	3	0	1	10	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:27908240G>T	ENST00000081029.3	+	8	900	c.829G>T	c.(829-831)Gaa>Taa	p.E277*	MRPS35_ENST00000538315.1_3'UTR	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	277					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					GAAAAATATGGAAATAAATAA	0.343													41	85					4.14481e-20	5.63289e-20	1	0	T	27908240	G	T	27908240	4	4	119	1	0	0	0	0	0	1	0	0	9914	1175	41	2	859	2	MRPS35	12	27908240	Nonsense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	17306262	27908240	105943655	402	22788											
C12orf40	283461	broad.mit.edu	37	chr12	40077286	40077286	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatatccagcaaactctaTgtaagtttttaggtaaatct	15	14	6	6	0	2	0	0	0	2	0	3	1	3	0	1	1	2	4	1	1	8	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:40077286T>C	ENST00000324616.5	+	9	1440	c.1286_splice	c.e9+1	p.M429_splice	C12orf40_ENST00000405531.3_Splice_Site_p.M429_splice|C12orf40_ENST00000398716.1_Splice_Site_p.I352_splice	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	429										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GCAAACTCTATGTAAGTTTTT	0.328													7	14					0	0	0	0	C	40077286	T	C	40077286	5	2	119	1	0	0	0	0	0	0	1	0	1698	1478	51	5	1320	5	C12orf40	12	40077286	Splice_Site	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	12169046	40077286	93774609	403	22789											
YAF2	10138	broad.mit.edu	37	chr12	42554626	42554626	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatccacatttttcaatcttGgcctaaacataaaaaaatga	17	12	4	8	0	2	1	1	1	1	0	3	2	3	1	2	1	1	0	2	1	7	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:42554626G>C	ENST00000327791.4	-	5	303	c.236C>G	c.(235-237)cCa>cGa	p.P79R	YAF2_ENST00000534854.2_Missense_Mutation_p.P103R|YAF2_ENST00000442791.3_Missense_Mutation_p.P127R|YAF2_ENST00000380790.4_Missense_Mutation_p.P61R|YAF2_ENST00000380788.3_Missense_Mutation_p.P94R			Q8IY57	YAF2_HUMAN	YY1 associated factor 2	103					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		TTTCAATCTTGGCCTAAACAT	0.308													6	24					0	0	0	0	C	42554626	G	C	42554626	3	2	119	1	0	0	0	0	1	0	0	0	17561	1348	47	4	238	4	YAF2	12	42554626	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2477340	42554626	91297269	404	22790											
KRT79	338785	broad.mit.edu	37	chr12	53227957	53227957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgagctgaagctggtgcGggcctgggacccactccctc	6	7	13	15	1	0	2	0	2	0	0	2	3	1	3	3	3	3	2	3	3	1	0	rs142757937	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:53227957G>T	ENST00000330553.5	-	1	122	c.88C>A	c.(88-90)Cgc>Agc	p.R30S		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	30	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCTGGTGCGGGCCTGGGAC	0.647													30	51					4.22769e-11	5.05227e-11	1	0	T	53227957	G	T	53227957	3	4	119	1	0	0	0	0	1	0	0	0	8544	1116	39	3	1555	3	KRT79	12	53227957	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	10673331	53227957	80623938	405	22791											
ESPL1	9700	broad.mit.edu	37	chr12	53663740	53663740	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacttcgggcattgtatgaGagctgccagttcttcctttc	6	14	9	12	1	1	1	0	1	1	1	4	2	2	1	3	1	2	4	3	1	1	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:53663740G>A	ENST00000257934.4	+	3	1105	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	ESPL1_ENST00000552462.1_Silent_p.E338E	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	338					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CATTGTATGAGAGCTGCCAGT	0.537													15	49					0	0	0	0	A	53663740	G	A	53663740	2	1	119	1	0	0	0	0	0	0	0	1	5291	933	33	2		2	ESPL1	12	53663740	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	435783	53663740	80188155	406	22792											
CBX5	23468	broad.mit.edu	37	chr12	54639952	54639952	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgttgccccaatgatcttTtctggttccagtcctctctc	4	17	6	14	0	4	1	0	1	4	0	8	1	6	1	4	1	1	2	4	1	1	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:54639952T>A	ENST00000209875.4	-	4	508	c.372A>T	c.(370-372)gaA>gaT	p.E124D	CBX5_ENST00000550411.1_Missense_Mutation_p.E124D|CBX5_ENST00000439541.2_Missense_Mutation_p.E124D	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	124	Chromo 2; shadow subtype.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						CAATGATCTTTTCTGGTTCCA	0.403													48	134					0	0	0	0	A	54639952	T	A	54639952	3	1	119	1	0	0	0	0	1	0	0	0	2746	1838	64	5	211	5	CBX5	12	54639952	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	976212	54639952	79211943	407	22793											
AVPR1A	552	broad.mit.edu	37	chr12	63544027	63544027	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtcgcgggccttggtgAcattgttcacctcgatcatg	7	11	12	11	3	2	1	2	1	0	0	4	2	2	1	2	2	1	2	2	2	0	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:63544027A>G	ENST00000299178.2	-	1	695	c.590T>C	c.(589-591)gTc>gCc	p.V197A		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	197					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGCCTTGGTGACATTGTTCAC	0.652													41	98					0	0	0	0	G	63544027	A	G	63544027	3	3	119	1	0	0	0	0	1	0	0	0	1235	275	10	5	674	5	AVPR1A	12	63544027	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	8904075	63544027	70307868	408	22794											
CPM	1368	broad.mit.edu	37	chr12	69260746	69260746	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggatggaagcttctcCtcacgaggatatttacagca	14	9	9	9	1	2	0	1	0	1	0	3	4	2	3	1	3	3	2	1	3	5	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:69260746C>T	ENST00000551568.1	-	7	930	c.870G>A	c.(868-870)gaG>gaA	p.E290E	CPM_ENST00000338356.3_Silent_p.E290E|CPM_ENST00000546373.1_Silent_p.E290E	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	290					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GAAGCTTCTCCTCACGAGGAT	0.358													33	52					0	0	0	0	T	69260746	C	T	69260746	2	4	119	1	0	0	0	0	0	0	0	1	3838	680	24	4		4	CPM	12	69260746	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	5716719	69260746	64591149	409	22795											
LYZ	4069	broad.mit.edu	37	chr12	69742211	69742211	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaggctctcattgttctggGgcttgtcctcctttctgtta	4	17	10	10	0	3	0	1	0	3	0	6	1	5	0	2	3	0	4	2	3	2	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:69742211G>C	ENST00000261267.2	+	1	91	c.23G>C	c.(22-24)gGg>gCg	p.G8A	LYZ_ENST00000548839.1_Missense_Mutation_p.G8A|LYZ_ENST00000549690.1_Missense_Mutation_p.G8A	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	8					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			ATTGTTCTGGGGCTTGTCCTC	0.493													13	59					0	0	0	0	C	69742211	G	C	69742211	3	2	119	1	0	0	0	0	1	0	0	0	9195	1232	43	4	25	4	LYZ	12	69742211	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	481465	69742211	64109684	410	22796											
ACSS3	79611	broad.mit.edu	37	chr12	81568634	81568634	+	Missense_Mutation	SNP	C	C	A																															tgcagagcatggagtagctgCcttgtttacagcaccaactg																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:81568634C>A	ENST00000548058.1	+	8	2076	c.1166C>A	c.(1165-1167)gCc>gAc	p.A389D	ACSS3_ENST00000548324.1_Missense_Mutation_p.A71D|ACSS3_ENST00000261206.3_Missense_Mutation_p.A388D			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	389						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGAGTAGCTGCCTTGTTTACA	0.502													10	40					0.000978159	0.00102643	1	0	A	81568634	C	A	81568634	3	1	119	1	0	0	0	0	1	0	0	0	190	739	26	4	1196	4	ACSS3	12	81568634	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	11826423	81568634	52283261	411	22797	189	2									
ACSS3	79611	broad.mit.edu	37	chr12	81568637	81568637	+	Missense_Mutation	SNP	T	T	G																															agagcatggagtagctgcctTgtttacagcaccaactgcaa																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:81568637T>G	ENST00000548058.1	+	8	2079	c.1169T>G	c.(1168-1170)tTg>tGg	p.L390W	ACSS3_ENST00000548324.1_Missense_Mutation_p.L72W|ACSS3_ENST00000261206.3_Missense_Mutation_p.L389W			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	390						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTAGCTGCCTTGTTTACAGCA	0.507													10	40					0	0	0	0	G	81568637	T	G	81568637	3	3	119	1	0	0	0	0	1	0	0	0	190	1821	63	5	1199	5	ACSS3	12	81568637	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	3	81568637	52283258	412	22798	189	2									
SLC5A8	160728	broad.mit.edu	37	chr12	101588880	101588880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctggacgtaccagtgtgCagtagaatgtgcagaccacc	10	8	12	11	1	0	2	0	0	0	2	1	3	1	3	4	1	3	4	4	1	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:101588880C>T	ENST00000536262.2	-	4	1088	c.530G>A	c.(529-531)tGc>tAc	p.C177Y		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	177					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TACCAGTGTGCAGTAGAATGT	0.418													16	19					0	0	0	0	T	101588880	C	T	101588880	3	4	119	1	0	0	0	0	1	0	0	0	14759	710	25	4	1350	4	SLC5A8	12	101588880	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	20020243	101588880	32263015	413	22799											
BTBD11	121551	broad.mit.edu	37	chr12	107937909	107937909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttccaaagtcaacctccagGtggaaaggtaagaactgcct	13	8	9	11	0	1	1	1	0	0	1	3	2	3	2	4	3	3	1	4	3	5	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:107937909G>T	ENST00000280758.5	+	3	2011	c.1483G>T	c.(1483-1485)Gtg>Ttg	p.V495L	BTBD11_ENST00000490090.2_Missense_Mutation_p.V495L|BTBD11_ENST00000420571.2_Missense_Mutation_p.V495L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	495						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAACCTCCAGGTGGAAAGGTA	0.567													13	33					1.61879e-10	1.90928e-10	1	0	T	107937909	G	T	107937909	3	4	119	1	0	0	0	0	1	0	0	0	1547	1261	44	4	1493	4	BTBD11	12	107937909	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	6349029	107937909	25913986	414	22800											
WSCD2	9671	broad.mit.edu	37	chr12	108589958	108589958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggagccgagccctcaagGggagggttgtccgggagaag	8	5	18	10	2	1	1	1	0	0	1	2	5	2	3	4	5	2	1	4	5	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:108589958G>T	ENST00000332082.4	+	3	1167	c.349G>T	c.(349-351)Ggg>Tgg	p.G117W	WSCD2_ENST00000261400.3_Missense_Mutation_p.G117W|WSCD2_ENST00000547525.1_Missense_Mutation_p.G117W|WSCD2_ENST00000549903.1_Missense_Mutation_p.G117W			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	117						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGCCCTCAAGGGGAGGGTTGT	0.572													18	30					3.52763e-06	3.85269e-06	1	0	T	108589958	G	T	108589958	3	4	119	1	0	0	0	0	1	0	0	0	17503	1232	43	4	351	4	WSCD2	12	108589958	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	652049	108589958	25261937	415	22801											
RNF10	9921	broad.mit.edu	37	chr12	120972711	120972711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcgggcagcagcaaaGggcaacagccgccccgctcc	8	4	11	18	3	1	0	0	0	1	0	3	0	2	0	5	2	4	5	5	2	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:120972711G>T	ENST00000325954.4	+	1	558	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W	RNF10_ENST00000413266.2_Missense_Mutation_p.G33W	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	33	Ser-rich.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCAGCAAAGGGCAACAGCC	0.711													9	23					0.0692343	0.0698137	1	0	T	120972711	G	T	120972711	3	4	119	1	0	0	0	0	1	0	0	0	13507	1000	35	4	99	4	RNF10	12	120972711	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	12382753	120972711	12879184	416	22802											
TMEM132D	121256	broad.mit.edu	37	chr12	129558510	129558510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacccacttaatgtcatcCtcgctactcatcacgatgga	11	10	6	14	2	3	1	3	0	0	1	5	3	4	2	2	1	1	1	2	1	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:129558510C>T	ENST00000422113.2	-	9	3536	c.3210G>A	c.(3208-3210)gaG>gaA	p.E1070E	TMEM132D_ENST00000389441.4_Silent_p.E608E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1070						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TAATGTCATCCTCGCTACTCA	0.507													43	92					0	0	0	0	T	129558510	C	T	129558510	2	4	119	1	0	0	0	0	0	0	0	1	16141	680	24	4		4	TMEM132D	12	129558510	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	8585799	129558510	4293385	417	22803											
FZD10	11211	broad.mit.edu	37	chr12	130648746	130648746	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcgggcttcgtggcccTgttccacatccggagggtga	4	10	13	14	3	1	1	0	1	1	0	5	2	3	2	4	4	0	2	4	4	0	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:130648746T>A	ENST00000229030.4	+	1	1743	c.1259T>A	c.(1258-1260)cTg>cAg	p.L420Q	FZD10_ENST00000539839.1_Silent_p.P387P			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	420					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TTCGTGGCCCTGTTCCACATC	0.617													21	62					0	0	0	0	A	130648746	T	A	130648746	3	1	119	1	0	0	0	0	1	0	0	0	6177	1580	55	5	1261	5	FZD10	12	130648746	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	1090236	130648746	3203149	418	22804											
POLE	5426	broad.mit.edu	37	chr12	133252047	133252047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctggctgtccttctggaagCctatctcctgctgcatgctc	4	13	9	15	0	2	0	0	0	2	0	5	1	3	1	4	2	4	4	4	2	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:133252047C>A	ENST00000320574.5	-	12	1206	c.1163G>T	c.(1162-1164)gGc>gTc	p.G388V	POLE_ENST00000535270.1_Missense_Mutation_p.G361V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	388					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTTCTGGAAGCCTATCTCCTG	0.612								DNA polymerases (catalytic subunits)					29	81					2.65835e-16	3.46303e-16	1	0	A	133252047	C	A	133252047	3	1	119	1	0	0	0	0	1	0	0	0	12268	739	26	4	5849	4	POLE	12	133252047	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2603301	133252047	599848	419	22805											
ATP8A2	51761	broad.mit.edu	37	chr13	26112196	26112196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agatgtggtcctgctgtcatCcaggttagctgtgctagtag	7	13	13	8	0	1	1	1	0	0	1	3	1	3	1	2	2	3	5	2	2	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:26112196C>T	ENST00000381655.2	+	7	720	c.578C>T	c.(577-579)tCc>tTc	p.S193F	ATP8A2_ENST00000255283.8_Missense_Mutation_p.S153F	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	153					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTGCTGTCATCCAGGTTAGCT	0.493													20	19					0	0	0	0	T	26112196	C	T	26112196	3	4	119	1	0	0	0	0	1	0	0	0	1197	855	30	2	604	2	ATP8A2	13	26112196	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08		26112196	89057682	420	22806											
FRY	10129	broad.mit.edu	37	chr13	32813404	32813404	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggtttccactgaatgTcttgtgtctcctgcctcagc	5	14	9	13	0	3	1	1	1	2	0	6	1	5	1	4	1	2	1	4	1	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:32813404T>A	ENST00000380250.3	+	45	6930	c.6434T>A	c.(6433-6435)gTc>gAc	p.V2145D		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCACTGAATGTCTTGTGTCTC	0.393													38	37					0	0	0	0	A	32813404	T	A	32813404	3	1	119	1	0	0	0	0	1	0	0	0	6111	1667	58	5	6612	5	FRY	13	32813404	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	6701208	32813404	82356474	421	22807											
NBEA	26960	broad.mit.edu	37	chr13	35733883	35733883	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attgcttgctcacatgaccgGtagcgtagacttaacttgta	10	13	9	9	2	1	2	1	1	0	1	1	2	1	2	1	1	4	5	1	1	4	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:35733883G>C	ENST00000540320.1	+	22	4109	c.3575G>C	c.(3574-3576)gGt>gCt	p.G1192A	NBEA_ENST00000310336.4_Missense_Mutation_p.G1192A|NBEA_ENST00000379939.2_Missense_Mutation_p.G1192A|NBEA_ENST00000400445.3_Missense_Mutation_p.G1192A			Q8NFP9	NBEA_HUMAN	neurobeachin	1192						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CACATGACCGGTAGCGTAGAC	0.363													12	15					0	0	0	0	C	35733883	G	C	35733883	3	2	119	1	0	0	0	0	1	0	0	0	10257	1261	44	4	3661	4	NBEA	13	35733883	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2920479	35733883	79435995	422	22808											
TRPC4	7223	broad.mit.edu	37	chr13	38211308	38211308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccccgtgaagctaatcctCgagattccagttgaatattt	11	12	7	11	2	0	3	0	2	0	1	3	4	2	3	4	0	1	2	4	0	4	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:38211308C>T	ENST00000379705.3	-	11	3523	c.2666G>A	c.(2665-2667)cGa>cAa	p.R889Q	TRPC4_ENST00000447043.1_Missense_Mutation_p.R748Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000358477.2_Missense_Mutation_p.R805Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.R716Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.R748Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.R894Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.R740Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.R716Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	889	Binds to ITPR1, ITPR2 and ITPR3.				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)		AGCTAATCCTCGAGATTCCAG	0.468													4	84					0	0	0	0	T	38211308	C	T	38211308	3	4	119	1	0	0	0	0	1	0	0	0	16675	884	31	1	271	1	TRPC4	13	38211308	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2477425	38211308	76958570	423	22809											
PCDH17	27253	broad.mit.edu	37	chr13	58208747	58208747	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgagcggatcccttccCgagggggtaccacgggtgaa	7	7	16	11	4	0	2	0	2	0	0	3	4	2	3	3	5	2	1	3	5	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:58208747C>A	ENST00000377918.3	+	1	2093	c.2067C>A	c.(2065-2067)ccC>ccA	p.P689P		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	689	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GATCCCTTCCCGAGGGGGTAC	0.637													54	75					1.00221e-16	1.31268e-16	1	0	A	58208747	C	A	58208747	2	1	119	1	0	0	0	0	0	0	0	1	11583	639	23	3		3	PCDH17	13	58208747	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	19997439	58208747	56961131	424	22810											
PCDH17	27253	broad.mit.edu	37	chr13	58209108	58209108	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcccctcagctcgcccCggtcggaggtgatgtatctc	4	9	12	16	3	2	1	1	1	1	0	5	2	2	2	5	3	2	2	5	3	1	1	rs147572809	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:58209108C>A	ENST00000377918.3	+	1	2454	c.2428C>A	c.(2428-2430)Cgg>Agg	p.R810R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	810					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGCTCGCCCCGGTCGGAGGT	0.632													7	19					0.0293803	0.0296676	1	0	A	58209108	C	A	58209108	2	1	119	1	0	0	0	0	0	0	0	1	11583	643	23	3		3	PCDH17	13	58209108	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	361	58209108	56960770	425	22811											
KLHL1	57626	broad.mit.edu	37	chr13	70549771	70549771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctatgtgcaggtatctttcGgttcccaacaatcaggataa	11	12	8	10	1	2	0	1	0	1	0	4	1	3	1	2	3	2	3	2	3	5	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:70549771G>C	ENST00000377844.4	-	2	1420	c.661C>G	c.(661-663)Cga>Gga	p.R221G	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	221	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGTATCTTTCGGTTCCCAACA	0.403													45	93					0	0	0	0	C	70549771	G	C	70549771	3	2	119	1	0	0	0	0	1	0	0	0	8417	1124	39	3	1625	3	KLHL1	13	70549771	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	12340663	70549771	44620107	426	22812											
SLITRK1	114798	broad.mit.edu	37	chr13	84454456	84454456	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaggttcttgtaatccAcaaagtgcgattttcggatg	11	13	11	6	2	1	1	0	1	1	0	3	4	2	2	1	2	1	2	1	2	3	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:84454456A>T	ENST00000377084.2	-	1	2072	c.1187T>A	c.(1186-1188)gTg>gAg	p.V396E		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	396						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTTGTAATCCACAAAGTGCGA	0.453													82	199					0	0	0	0	T	84454456	A	T	84454456	3	4	119	1	0	0	0	0	1	0	0	0	14830	159	6	5	907	5	SLITRK1	13	84454456	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	13904685	84454456	30715422	427	22813											
SLITRK5	26050	broad.mit.edu	37	chr13	88327881	88327881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgaaattagccctcccCgtttcccaatctaccacctc	8	12	3	18	1	2	1	0	1	2	0	6	1	4	1	6	0	2	1	6	0	4	3	rs149899708		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:88327881C>T	ENST00000325089.6	+	2	457	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	80						integral to membrane		p.R80S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TAGCCCTCCCCGTTTCCCAAT	0.458													85	155					0	0	0	0	T	88327881	C	T	88327881	3	4	119	1	0	0	0	0	1	0	0	0	14834	652	23	1	240	1	SLITRK5	13	88327881	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	3873425	88327881	26841997	428	22814											
GPC6	10082	broad.mit.edu	37	chr13	94197572	94197572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaccacagaaatggaaGacaagttaagccaacaaagc	18	4	9	10	0	0	2	0	0	0	2	0	3	0	3	2	1	4	3	2	1	6	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:94197572G>T	ENST00000377047.4	+	2	832	c.217G>T	c.(217-219)Gac>Tac	p.D73Y		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	73						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AGAAATGGAAGACAAGTTAAG	0.398													36	102					1.36161e-19	1.83666e-19	1	0	T	94197572	G	T	94197572	3	4	119	1	0	0	0	0	1	0	0	0	6651	942	33	2	223	2	GPC6	13	94197572	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	5869691	94197572	20972306	429	22815											
NALCN	259232	broad.mit.edu	37	chr13	101997662	101997662	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctcttgcctgctaagtcCcagatcttcaaggtccatgc	8	11	8	14	0	3	1	1	0	2	1	5	1	5	1	3	1	4	2	3	1	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:101997662C>A	ENST00000251127.6	-	7	835	c.754G>T	c.(754-756)Gga>Tga	p.G252*	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Nonsense_Mutation_p.G252*	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	252						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGCTAAGTCCCAGATCTTCA	0.428													39	81					1.30091e-30	1.88112e-30	1	0	A	101997662	C	A	101997662	4	1	119	1	0	0	0	0	0	1	0	0	10218	632	22	4	4614	4	NALCN	13	101997662	Nonsense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	7800090	101997662	13172216	430	22816											
NYNRIN	57523	broad.mit.edu	37	chr14	24877399	24877399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatccgtggtgaccagcatGcaggggacctactgcagctg	8	7	15	11	1	0	1	0	1	0	0	1	3	1	3	3	4	5	4	3	4	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:24877399G>A	ENST00000382554.3	+	3	841	c.523G>A	c.(523-525)Gca>Aca	p.A175T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	175					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGACCAGCATGCAGGGGACCT	0.697													7	11					0	0	0	0	A	24877399	G	A	24877399	3	1	119	1	0	0	0	0	1	0	0	0	10867	1319	46	4	529	4	NYNRIN	14	24877399	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08		24877399	82472141	431	22817											
NKX2-1	7080	broad.mit.edu	37	chr14	36989271	36989271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtttcacctgagcctgccggGgctgctcctccctcccgccg	2	9	11	19	3	1	1	1	1	0	0	4	1	4	1	7	2	3	3	7	2	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:36989271G>A	ENST00000354822.5	-	1	162	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S	NKX2-1_ENST00000522719.2_5'UTR|NKX2-1_ENST00000518149.1_Intron|NKX2-1-AS1_ENST00000521292.2_RNA	NM_001079668.2	NP_001073136.1	P43699	NKX21_HUMAN	NK2 homeobox 1	242					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		AGCCTGCCGGGGCTGCTCCTC	0.687			A		NSCLC								17	28					0	0	0	0	A	36989271	G	A	36989271	3	1	119	1	0	0	0	0	1	0	0	0	10519	1232	43	4	1153	4	NKX2-1	14	36989271	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	12111872	36989271	70360269	432	22818											
SYNE2	23224	broad.mit.edu	37	chr14	64493314	64493314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaatcattttgctgaaGcctgaaggggatgccagaat	13	9	12	7	0	1	3	1	2	0	1	1	5	1	5	2	3	3	1	2	3	4	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:64493314G>T	ENST00000358025.3	+	42	6500	c.6270G>T	c.(6268-6270)aaG>aaT	p.K2090N	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.K2090N|SYNE2_ENST00000554584.1_Missense_Mutation_p.K2090N	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2090					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTTGCTGAAGCCTGAAGGGG	0.418													16	28					1.5739e-10	1.8624e-10	1	0	T	64493314	G	T	64493314	3	4	119	1	0	0	0	0	1	0	0	0	15537	962	34	4	6432	4	SYNE2	14	64493314	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	27504043	64493314	42856226	433	22819											
FOS	2353	broad.mit.edu	37	chr14	75747367	75747367	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagctgactgatacactccaAgcggtaggtactctgtgggt	9	10	13	9	1	1	2	0	2	1	0	2	3	2	2	1	3	4	3	1	3	4	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:75747367A>C	ENST00000303562.4	+	3	707	c.498A>C	c.(496-498)caA>caC	p.Q166H	FOS_ENST00000535987.1_Intron|FOS_ENST00000555242.1_Missense_Mutation_p.Q166H|FOS_ENST00000555686.1_Missense_Mutation_p.Q52H|FOS_ENST00000555347.1_Missense_Mutation_p.Q18H	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	166	Leucine-zipper.				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		ATACACTCCAAGCGGTAGGTA	0.478													21	32					0	0	0	0	C	75747367	A	C	75747367	3	2	119	1	0	0	0	0	1	0	0	0	6030	69	3	5	508	5	FOS	14	75747367	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	11254053	75747367	31602173	434	22820											
ESRRB	2103	broad.mit.edu	37	chr14	76957857	76957857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcctggatggaaatcctcatCctgggcatcgtgtaccgctc	7	10	11	13	2	1	0	1	0	0	0	5	2	3	2	4	3	1	3	4	3	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:76957857C>G	ENST00000380887.2	+	6	927	c.855C>G	c.(853-855)atC>atG	p.I285M	ESRRB_ENST00000509242.1_Missense_Mutation_p.I285M|ESRRB_ENST00000261532.7_Missense_Mutation_p.I285M|ESRRB_ENST00000556177.1_Missense_Mutation_p.I285M			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	285						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AAATCCTCATCCTGGGCATCG	0.622													7	11					0	0	0	0	G	76957857	C	G	76957857	3	3	119	1	0	0	0	0	1	0	0	0	5299	845	30	2	873	2	ESRRB	14	76957857	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1210490	76957857	30391683	435	22821											
FLRT2	23768	broad.mit.edu	37	chr14	86089629	86089629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaaagatgattattgcgagGcaggcaccaagaaggacaac	16	5	13	7	1	0	3	0	1	0	2	0	6	0	5	1	4	2	2	1	4	5	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:86089629G>T	ENST00000330753.4	+	2	2538	c.1771G>T	c.(1771-1773)Gca>Tca	p.A591S	FLRT2_ENST00000554746.1_Missense_Mutation_p.A591S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	591					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)		TTATTGCGAGGCAGGCACCAA	0.483													82	135					4.34595e-34	6.37347e-34	1	0	T	86089629	G	T	86089629	3	4	119	1	0	0	0	0	1	0	0	0	5984	1203	42	4	1773	4	FLRT2	14	86089629	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	9131772	86089629	21259911	436	22822											
C14orf159	80017	broad.mit.edu	37	chr14	91662730	91662730	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcaaggtgttctgaagAcgcagatcccgatattaact	12	13	8	8	2	2	3	1	1	1	2	3	4	3	3	1	1	1	2	1	1	4	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:91662730A>C	ENST00000518868.1	+	13	1897	c.1207A>C	c.(1207-1209)Acg>Ccg	p.T403P	C14orf159_ENST00000256324.10_Missense_Mutation_p.T403P|C14orf159_ENST00000520328.1_Missense_Mutation_p.T386P|C14orf159_ENST00000522322.1_Missense_Mutation_p.T398P|C14orf159_ENST00000523816.1_Missense_Mutation_p.T398P|C14orf159_ENST00000412671.2_Missense_Mutation_p.T403P|C14orf159_ENST00000525393.2_Missense_Mutation_p.T274P|C14orf159_ENST00000523771.1_Missense_Mutation_p.T398P|C14orf159_ENST00000428926.2_Missense_Mutation_p.T398P|C14orf159_ENST00000521077.2_Missense_Mutation_p.T403P			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	398						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGTTCTGAAGACGCAGATCCC	0.473													9	19					0	0	0	0	C	91662730	A	C	91662730	3	2	119	1	0	0	0	0	1	0	0	0	1767	275	10	5	1237	5	C14orf159	14	91662730	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	5573101	91662730	15686810	437	22823											
CATSPERB	79820	broad.mit.edu	37	chr14	92088146	92088146	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttagaaaggtcatattgTtgggtgcactttcaggcatg	9	15	11	6	0	3	1	2	0	1	1	3	1	3	1	0	3	1	3	0	3	3	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:92088146T>A	ENST00000256343.3	-	19	2222	c.2066A>T	c.(2065-2067)aAc>aTc	p.N689I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	689					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GGTCATATTGTTGGGTGCACT	0.388													37	60					0	0	0	0	A	92088146	T	A	92088146	3	1	119	1	0	0	0	0	1	0	0	0	2716	1725	60	5	1320	5	CATSPERB	14	92088146	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	425416	92088146	15261394	438	22824											
CLMN	79789	broad.mit.edu	37	chr14	95669349	95669349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccgaggaactggagctGctctgagagccatcggcctc	8	6	14	13	2	1	1	0	1	1	1	3	5	1	3	3	4	4	3	3	4	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:95669349G>T	ENST00000298912.4	-	9	2450	c.2337C>A	c.(2335-2337)agC>agA	p.S779R		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	779						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AACTGGAGCTGCTCTGAGAGC	0.587													24	16					1.96895e-08	2.22083e-08	1	0	T	95669349	G	T	95669349	3	4	119	1	0	0	0	0	1	0	0	0	3572	1310	46	4	691	4	CLMN	14	95669349	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3581203	95669349	11680191	439	22825											
TCL1B	9623	broad.mit.edu	37	chr14	96152766	96152766	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcagctggaaagctacaCgtgtgagcctagaggcgggt	9	7	16	9	3	0	2	0	1	0	1	0	3	0	3	1	3	5	3	1	3	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:96152766C>A	ENST00000340722.7	+	0	13				RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B											cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GAAAGCTACACGTGTGAGCCT	0.697													24	24					1.48734e-19	2.0025e-19	1	0	A	96152766	C	A	96152766	1	1	119	1	0	0	0	0	0	0	0	0	15799	551	19	3		3	TCL1B	14	96152766	Translation_Start_Site	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	483417	96152766	11196774	440	22826											
ATG2B	55102	broad.mit.edu	37	chr14	96783634	96783634	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaatactgcaaagtctcctCctcagatccactttcctcat	12	12	3	14	0	3	1	2	0	1	1	7	1	6	1	4	0	2	1	4	0	4	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:96783634C>A	ENST00000359933.4	-	20	3951	c.3058G>T	c.(3058-3060)Gag>Tag	p.E1020*		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1020										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAAGTCTCCTCCTCAGATCCA	0.328													21	4					1.96292e-10	2.30388e-10	1	0	A	96783634	C	A	96783634	4	1	119	1	0	0	0	0	0	1	0	0	1098	864	30	2	3270	2	ATG2B	14	96783634	Nonsense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	630868	96783634	10565906	441	22827											
OR4M2	390538	broad.mit.edu	37	chr15	22368694	22368694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctatttgttcatcctacCaggaaatatccttatcattt	10	18	3	10	0	3	0	2	0	1	0	5	1	5	1	3	1	1	1	3	1	5	8			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:22368694C>T	ENST00000332663.2	+	1	217	c.119C>T	c.(118-120)cCa>cTa	p.P40L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTCATCCTACCAGGAAATATC	0.418													122	850					0	0	0	0	T	22368694	C	T	22368694	3	4	119	1	0	0	0	0	1	0	0	0	11147	594	21	4	121	4	OR4M2	15	22368694	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08		22368694	80162698	442	22828											
OCA2	4948	broad.mit.edu	37	chr15	28326816	28326816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttttgtgaggaatgaagCaaactcctggcctgcaggag	10	9	12	10	0	0	2	0	2	0	0	1	4	1	4	3	3	3	2	3	3	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:28326816C>A	ENST00000354638.3	-	2	360	c.205G>T	c.(205-207)Gct>Tct	p.A69S	OCA2_ENST00000353809.5_Missense_Mutation_p.A69S|OCA2_ENST00000382996.2_Missense_Mutation_p.A69S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	69					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGAATGAAGCAAACTCCTGG	0.582									Oculocutaneous Albinism				12	6					7.03913e-09	8.02727e-09	1	0	A	28326816	C	A	28326816	3	1	119	1	0	0	0	0	1	0	0	0	10886	710	25	4	2403	4	OCA2	15	28326816	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	5958122	28326816	74204576	443	22829											
SCG5	6447	broad.mit.edu	37	chr15	32972061	32972061	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaacattcctaaggacttTagtgaggatcaggggtaccc	12	9	11	9	0	1	1	1	1	0	0	2	4	2	3	2	4	2	1	2	4	4	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:32972061T>C	ENST00000300175.4	+	3	431	c.321T>C	c.(319-321)ttT>ttC	p.F107F	SCG5_ENST00000494364.1_Silent_p.F107F|SCG5_ENST00000413748.2_Silent_p.F107F|SCG5_ENST00000497208.1_Silent_p.F107F|SCG5_ENST00000498069.1_3'UTR	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	107					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		CTAAGGACTTTAGTGAGGATC	0.498													55	166					0	0	0	0	C	32972061	T	C	32972061	2	2	119	1	0	0	0	0	0	0	0	1	13979	1751	61	5		5	SCG5	15	32972061	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	4645245	32972061	69559331	444	22830											
FMN1	342184	broad.mit.edu	37	chr15	33218463	33218463	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccaacaatttgatgatCtaaaattagaaaaaaaaaaa	23	9	3	6	0	1	3	0	2	1	1	2	3	2	3	2	0	1	0	2	0	10	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:33218463C>A	ENST00000334528.9	-	6	2469		c.e6-1		FMN1_ENST00000559047.1_Splice_Site|FMN1_ENST00000561249.1_Splice_Site	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1						actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		ATTTGATGATCTAAAATTAGA	0.313													5	12					8.12818e-05	8.64217e-05	1	0	A	33218463	C	A	33218463	5	1	119	1	0	0	0	0	0	0	1	0	5994	927	32	2	1169	2	FMN1	15	33218463	Splice_Site	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	246402	33218463	69312929	445	22831											
PAK6	56924	broad.mit.edu	37	chr15	40565639	40565639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcatccaccgggacatcaAgagtgactccatcctgctga	10	9	9	13	1	2	3	2	2	0	1	5	4	5	4	4	1	1	1	4	1	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:40565639A>G	ENST00000455577.2	+	8	2495	c.1583A>G	c.(1582-1584)aAg>aGg	p.K528R	PAK6_ENST00000260404.4_Missense_Mutation_p.K528R|PAK6_ENST00000560346.1_Missense_Mutation_p.K528R|PAK6_ENST00000441369.1_Missense_Mutation_p.K528R|PAK6_ENST00000542403.2_Missense_Mutation_p.K528R|PAK6_ENST00000453867.1_Missense_Mutation_p.K528R|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	528	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CGGGACATCAAGAGTGACTCC	0.607													18	40					0	0	0	0	G	40565639	A	G	40565639	3	3	119	1	0	0	0	0	1	0	0	0	11475	72	3	5	1601	5	PAK6	15	40565639	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	7347176	40565639	61965753	446	22832											
PLA2G4E	123745	broad.mit.edu	37	chr15	42292378	42292378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtagtggaagcaggcaGcggtttggaagcaggcagag	10	6	20	5	1	0	1	0	0	0	1	0	3	0	3	0	7	3	6	0	7	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:42292378G>T	ENST00000399518.3	-	8	1262	c.776C>A	c.(775-777)gCt>gAt	p.A259D	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A230D	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	252					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GAAGCAGGCAGCGGTTTGGAA	0.602													6	7					0.0215528	0.0218244	1	0	T	42292378	G	T	42292378	3	4	119	1	0	0	0	0	1	0	0	0	12077	971	34	4	1882	4	PLA2G4E	15	42292378	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1726739	42292378	60239014	447	22833											
GANC	2595	broad.mit.edu	37	chr15	42632010	42632010	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctttggggaggaacacAcccgactcatccgagaagcc	10	6	12	13	2	2	1	1	0	1	1	3	5	3	3	3	4	2	1	3	4	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:42632010A>C	ENST00000318010.8	+	17	2227	c.1987A>C	c.(1987-1989)Acc>Ccc	p.T663P		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	663					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GGAGGAACACACCCGACTCAT	0.572													6	81					0	0	0	0	C	42632010	A	C	42632010	3	2	119	1	0	0	0	0	1	0	0	0	6283	159	6	5	2053	5	GANC	15	42632010	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	339632	42632010	59899382	448	22834											
MYEF2	50804	broad.mit.edu	37	chr15	48443709	48443709	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagccttgatttattcCaatatcaccacgtccaaaat	14	12	3	12	1	1	1	1	1	0	0	4	1	4	1	5	0	1	0	5	0	6	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:48443709C>A	ENST00000324324.7	-	13	1546	c.1267G>T	c.(1267-1269)Gga>Tga	p.G423*	MYEF2_ENST00000267836.6_Nonsense_Mutation_p.G423*	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	423	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGATTTATTCCAATATCACCA	0.383													160	309					1.1324e-67	1.71282e-67	1	0	A	48443709	C	A	48443709	4	1	119	1	0	0	0	0	0	1	0	0	10094	603	21	4	555	4	MYEF2	15	48443709	Nonsense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	5811699	48443709	54087683	449	22835											
SLC12A1	6557	broad.mit.edu	37	chr15	48543856	48543856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaacatgtgggtatctcttTttggagctgttttgtgctgt	6	18	11	6	0	1	0	0	0	1	0	2	1	1	1	0	2	3	4	0	2	2	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:48543856T>C	ENST00000396577.3	+	15	2046	c.1831T>C	c.(1831-1833)Ttt>Ctt	p.F611L	SLC12A1_ENST00000380993.3_Missense_Mutation_p.F611L|SLC12A1_ENST00000558405.1_Missense_Mutation_p.F611L	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	611					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGTATCTCTTTTTGGAGCTGT	0.418													22	38					0	0	0	0	C	48543856	T	C	48543856	3	2	119	1	0	0	0	0	1	0	0	0	14470	1841	64	5	1985	5	SLC12A1	15	48543856	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	100147	48543856	53987536	450	22836											
FBN1	2200	broad.mit.edu	37	chr15	48703453	48703453	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgattcgtcagagttgtaaGagctggaaggagttctagga	11	11	15	4	1	2	3	1	1	1	2	3	6	2	6	0	3	1	4	0	3	3	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:48703453G>C	ENST00000316623.5	-	66	8805	c.8350C>G	c.(8350-8352)Ctt>Gtt	p.L2784V	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2784					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.L2784I(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGAGTTGTAAGAGCTGGAAGG	0.418													57	88					0	0	0	0	C	48703453	G	C	48703453	3	2	119	1	0	0	0	0	1	0	0	0	5747	942	33	2	269	2	FBN1	15	48703453	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	159597	48703453	53827939	451	22837											
FBN1	2200	broad.mit.edu	37	chr15	48719886	48719886	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtcacagcagcattccGatttggtgacggggttcctg	6	11	12	12	3	1	1	1	1	0	0	4	2	4	1	3	3	2	3	3	3	0	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:48719886G>T	ENST00000316623.5	-	58	7537	c.7082C>A	c.(7081-7083)tCg>tAg	p.S2361*		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2361	TB 9.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCAGCATTCCGATTTGGTGAC	0.552													23	33					1.10513e-12	1.34514e-12	1	0	T	48719886	G	T	48719886	4	4	119	1	0	0	0	0	0	1	0	0	5747	1059	37	3	1569	3	FBN1	15	48719886	Nonsense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	16433	48719886	53811506	452	22838											
WDR72	256764	broad.mit.edu	37	chr15	53992035	53992035	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccattttatcatcctcacAggaaaaaggtgcttccgggc	10	11	9	11	1	2	0	2	0	0	0	4	1	4	1	3	3	2	1	3	3	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:53992035A>C	ENST00000396328.1	-	13	1916	c.1677T>G	c.(1675-1677)ccT>ccG	p.P559P	WDR72_ENST00000360509.5_Silent_p.P559P|WDR72_ENST00000559418.1_Silent_p.P569P|WDR72_ENST00000557913.1_Silent_p.P556P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	559										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCATCCTCACAGGAAAAAGGT	0.448													54	158					0	0	0	0	C	53992035	A	C	53992035	2	2	119	1	0	0	0	0	0	0	0	1	17418	175	7	5		5	WDR72	15	53992035	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	5272149	53992035	48539357	453	22839											
UNC13C	440279	broad.mit.edu	37	chr15	54556445	54556445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgaaagaaagaatgaaGatcagggagaaaaaccggcc	20	3	12	6	1	1	6	1	2	0	4	1	7	1	6	2	2	1	1	2	2	7	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:54556445G>T	ENST00000545554.1	+	8	3528	c.3528G>T	c.(3526-3528)aaG>aaT	p.K1176N	UNC13C_ENST00000260323.11_Missense_Mutation_p.K1176N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K1174N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1176					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAAGAATGAAGATCAGGGAGA	0.393													6	7					0.00116845	0.00122079	1	0	T	54556445	G	T	54556445	3	4	119	1	0	0	0	0	1	0	0	0	17082	933	33	2	3554	2	UNC13C	15	54556445	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	564410	54556445	47974947	454	22840											
UNC13C	440279	broad.mit.edu	37	chr15	54804027	54804027	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatccatgggagggaaggAggtgggtatctttttctcct	8	13	14	6	0	2	1	0	1	2	0	4	4	3	4	2	5	0	1	2	5	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:54804027A>T	ENST00000545554.1	+	23	5456	c.5457_splice	c.e23+1	p.E1819_splice	UNC13C_ENST00000260323.11_Splice_Site_p.E1819_splice|UNC13C_ENST00000537900.1_Splice_Site_p.E1817_splice			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1819					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAGGGAAGGAGGTGGGTATC	0.353													7	13					0	0	0	0	T	54804027	A	T	54804027	5	4	119	1	0	0	0	0	0	0	1	0	17082	318	11	5	5542	5	UNC13C	15	54804027	Splice_Site	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	247582	54804027	47727365	455	22841											
PRTG	283659	broad.mit.edu	37	chr15	55972792	55972792	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttctgtggacctgctatAattgttggtgtgtggaagga	8	15	14	4	0	1	0	0	0	1	0	1	3	1	3	1	4	1	3	1	4	3	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:55972792A>T	ENST00000389286.4	-	5	758	c.711T>A	c.(709-711)atT>atA	p.I237I	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	237	Ig-like 3.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GACCTGCTATAATTGTTGGTG	0.368													59	110					0	0	0	0	T	55972792	A	T	55972792	2	4	119	1	0	0	0	0	0	0	0	1	12717	358	13	5		5	PRTG	15	55972792	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	1168765	55972792	46558600	456	22842											
AQP9	366	broad.mit.edu	37	chr15	58430816	58430816	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcaagcagagactggtcTtgaagagcagcttagcgaaa	13	8	12	8	1	2	3	1	1	1	2	2	5	2	3	0	1	4	4	0	1	4	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:58430816T>A	ENST00000219919.4	+	1	422	c.52T>A	c.(52-54)Ttg>Atg	p.L18M	AQP9_ENST00000559443.1_3'UTR|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.L18M|AQP9_ENST00000558772.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	18					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GAGACTGGTCTTGAAGAGCAG	0.458													23	38					0	0	0	0	A	58430816	T	A	58430816	3	1	119	1	0	0	0	0	1	0	0	0	835	1606	56	5	54	5	AQP9	15	58430816	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	2458024	58430816	44100576	457	22843											
ANKDD1A	348094	broad.mit.edu	37	chr15	65219136	65219136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagggcagctgagcacGggcagctggatgctctggac	8	7	15	11	1	2	1	1	1	1	0	2	3	2	3	0	4	4	6	0	4	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:65219136G>T	ENST00000380230.3	+	6	537	c.508G>T	c.(508-510)Ggg>Tgg	p.G170W	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.G170W|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.G170W|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.G79W|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.G79W|AC069368.3_ENST00000437723.1_Intron	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	170					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						AGCTGAGCACGGGCAGCTGGA	0.622													51	105					1.46156e-29	2.10081e-29	1	0	T	65219136	G	T	65219136	3	4	119	1	0	0	0	0	1	0	0	0	624	1116	39	3	530	3	ANKDD1A	15	65219136	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	6788320	65219136	37312256	458	22844											
PDCD7	10081	broad.mit.edu	37	chr15	65412286	65412286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgctgaggctggaggaCagacccctgggcagacagga	10	5	15	11	0	1	3	0	1	1	2	1	6	1	6	2	5	1	3	2	5	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:65412286C>T	ENST00000204549.4	-	3	1070	c.1016G>A	c.(1015-1017)tGt>tAt	p.C339Y		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	339					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GGCTGGAGGACAGACCCCTGG	0.458													58	163					0	0	0	0	T	65412286	C	T	65412286	3	4	119	1	0	0	0	0	1	0	0	0	11696	478	17	4	453	4	PDCD7	15	65412286	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	193150	65412286	37119106	459	22845											
BBS4	585	broad.mit.edu	37	chr15	73023941	73023941	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacttggcaccctttgatTggaagattctgtataatttg	10	16	8	7	0	1	2	0	1	1	1	1	3	1	3	1	2	1	2	1	2	4	8			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:73023941T>C	ENST00000268057.4	+	12	951	c.910T>C	c.(910-912)Tgg>Cgg	p.W304R	BBS4_ENST00000542334.1_Missense_Mutation_p.W132R|BBS4_ENST00000539603.1_Missense_Mutation_p.W292R|BBS4_ENST00000395205.2_Missense_Mutation_p.W312R	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	304	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ACCCTTTGATTGGAAGATTCT	0.468									Bardet-Biedl syndrome				20	110					0	0	0	0	C	73023941	T	C	73023941	3	2	119	1	0	0	0	0	1	0	0	0	1343	1812	63	5	956	5	BBS4	15	73023941	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	7611655	73023941	29507451	460	22846											
RASGRF1	5923	broad.mit.edu	37	chr15	79292142	79292142	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttggggtgccctcgttggCcccggcggttgctatggcaa	3	11	16	11	3	0	0	0	0	0	0	1	0	0	0	3	6	2	5	3	6	2	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:79292142C>G	ENST00000419573.3	-	18	3011	c.2737G>C	c.(2737-2739)Gcc>Ccc	p.A913P	RASGRF1_ENST00000394745.3_Missense_Mutation_p.A129P|RASGRF1_ENST00000558480.2_Missense_Mutation_p.A897P|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	915					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCTCGTTGGCCCCGGCGGTT	0.572													47	98					0	0	0	0	G	79292142	C	G	79292142	3	3	119	1	0	0	0	0	1	0	0	0	13154	739	26	4	1128	4	RASGRF1	15	79292142	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	6268201	79292142	23239250	461	22847											
SV2B	9899	broad.mit.edu	37	chr15	91835659	91835659	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccatcctgggaaacacCatctttgcttcttttgttgg	6	14	10	11	1	2	0	0	0	2	0	3	1	3	1	3	3	2	2	3	3	1	5	rs144869683		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:91835659C>A	ENST00000394232.1	+	13	2399	c.1929C>A	c.(1927-1929)acC>acA	p.T643T	SV2B_ENST00000545111.2_Silent_p.T492T|SV2B_ENST00000330276.4_Silent_p.T643T	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	643					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGGAAACACCATCTTTGCTT	0.483													22	57					3.8784e-16	5.01625e-16	1	0	A	91835659	C	A	91835659	2	1	119	1	0	0	0	0	0	0	0	1	15508	581	21	4		4	SV2B	15	91835659	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	12543517	91835659	10695733	462	22848											
E4F1	1877	broad.mit.edu	37	chr16	2282198	2282198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacatcaaagaggtcatcGtggctgctgaggcggagctg	9	7	16	9	2	2	2	2	1	0	1	3	3	2	3	0	5	2	4	0	5	1	0	rs143442513		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:2282198G>A	ENST00000301727.4	+	4	490	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	E4F1_ENST00000565090.1_Missense_Mutation_p.V148M|E4F1_ENST00000564139.1_Missense_Mutation_p.V148M	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	148					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						AGAGGTCATCGTGGCTGCTGA	0.692													7	194					0	0	0	0	A	2282198	G	A	2282198	3	1	119	1	0	0	0	0	1	0	0	0	4910	1145	40	1	456	1	E4F1	16	2282198	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08		2282198	88072555	463	22849											
TBC1D24	57465	broad.mit.edu	37	chr16	2550805	2550805	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgacctgagcatcctgcagGgggaggaggcggccaggcgc	7	4	18	12	2	0	2	0	2	0	0	1	4	1	4	3	6	2	2	3	6	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:2550805G>T	ENST00000567020.1	+	7	1648	c.1507_splice	c.e7-1	p.G503_splice	TBC1D24_ENST00000293970.5_Splice_Site_p.G509_splice|TBC1D24_ENST00000434757.2_Splice_Site_p.G509_splice|RP11-20I23.1_ENST00000564543.1_Intron	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	509	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CATCCTGCAGGGGGAGGAGGC	0.662													5	25					5.9392e-07	6.57587e-07	1	0	T	2550805	G	T	2550805	5	4	119	1	0	0	0	0	0	0	1	0	15705	1246	43	4	1530	4	TBC1D24	16	2550805	Splice_Site	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	268607	2550805	87803948	464	22850											
GRIN2A	2903	broad.mit.edu	37	chr16	9943623	9943623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccactcacttgattttgaCgaacttccgacatggcacgg	9	11	9	12	3	1	2	1	2	0	0	2	4	2	2	2	2	2	1	2	2	1	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:9943623C>T	ENST00000396573.2	-	6	1627	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	GRIN2A_ENST00000562109.1_Missense_Mutation_p.V440I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V440I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V440I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V440I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V283I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	440					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGATTTTGACGAACTTCCGA	0.507													43	78					0	0	0	0	T	9943623	C	T	9943623	3	4	119	1	0	0	0	0	1	0	0	0	6829	536	19	1	3112	1	GRIN2A	16	9943623	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	7392818	9943623	80411130	465	22851											
CPPED1	55313	broad.mit.edu	37	chr16	12798821	12798821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccaatgtcatggttgccGctgacaaggaccagtgggat	9	10	13	9	1	1	1	1	1	0	0	1	3	1	3	3	3	2	2	3	3	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:12798821G>T	ENST00000381774.4	-	3	615	c.375C>A	c.(373-375)agC>agA	p.S125R	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	125							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CATGGTTGCCGCTGACAAGGA	0.637													29	75					3.65163e-15	4.66454e-15	1	0	T	12798821	G	T	12798821	3	4	119	1	0	0	0	0	1	0	0	0	3852	1078	38	3	577	3	CPPED1	16	12798821	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2855198	12798821	77555932	466	22852											
OTOA	146183	broad.mit.edu	37	chr16	21721379	21721379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtctcaggttgggccaaGagccaggtcatcatcttgtc	8	10	12	11	0	4	1	3	0	2	1	6	1	4	1	2	4	1	1	2	4	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:21721379G>T	ENST00000388958.3	+	12	1276	c.1275G>T	c.(1273-1275)aaG>aaT	p.K425N	OTOA_ENST00000286149.4_Missense_Mutation_p.K439N|OTOA_ENST00000388956.4_Missense_Mutation_p.K346N|OTOA_ENST00000388957.3_Missense_Mutation_p.K101N	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	439					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTTGGGCCAAGAGCCAGGTCA	0.498													12	22					1.5842e-08	1.79526e-08	1	0	T	21721379	G	T	21721379	3	4	119	1	0	0	0	0	1	0	0	0	11373	933	33	2	1367	2	OTOA	16	21721379	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	8922558	21721379	68633374	467	22853											
HS3ST4	9951	broad.mit.edu	37	chr16	26147463	26147464	+	Frame_Shift_Ins	INS	-	-	A																															actcatcctcgcattgacccINSagatgtcatccacagactga																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:26147463_26147464insA	ENST00000331351.5	+	2	1657_1658	c.1265_1266insA	c.(1264-1266)cgafs	p.R422fs	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	422					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CGCATTGACCCAGATGTCATCC	0.475													14	21	---	---	---	---					A	26147464	-	A	26147463	7	5	119	1	0	1	1	0	0	0	0	0	7417	594	21	0	1271	0	HS3ST4	16	26147463	Frame_Shift_Ins	INS	-	TCGA-CN-A63U-01A-11D-A30E-08	4426084	26147463	64207290	468	22854											
GSG1L	146395	broad.mit.edu	37	chr16	27818821	27818821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttacgggcagggtatctCtcgtggcggcagtctaagtg	7	10	14	10	3	2	0	0	0	2	0	4	0	2	0	0	4	1	3	0	4	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:27818821C>A	ENST00000380898.2	-	7	1023	c.474G>T	c.(472-474)gaG>gaT	p.E158D	GSG1L_ENST00000395724.3_Missense_Mutation_p.E244D|GSG1L_ENST00000569166.1_Missense_Mutation_p.E158D|GSG1L_ENST00000380897.3_Missense_Mutation_p.E140D|GSG1L_ENST00000447459.2_Missense_Mutation_p.E295D			Q6UXU4	GSG1L_HUMAN	GSG1-like	295						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CAGGGTATCTCTCGTGGCGGC	0.507													10	24					3.86212e-05	4.13676e-05	1	0	A	27818821	C	A	27818821	3	1	119	1	0	0	0	0	1	0	0	0	6871	912	32	2	118	2	GSG1L	16	27818821	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1671358	27818821	62535932	469	22855											
SPN	6693	broad.mit.edu	37	chr16	29675878	29675878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggctctgctcctgctgTggcgccggcggcagaagcgg	3	8	17	13	5	1	1	0	0	1	1	3	1	2	1	2	5	3	4	2	5	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:29675878T>C	ENST00000360121.3	+	2	921	c.829T>C	c.(829-831)Tgg>Cgg	p.W277R	SPN_ENST00000395389.2_Missense_Mutation_p.W277R|AC009133.19_ENST00000449759.1_Intron	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	277					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GCTCCTGCTGTGGCGCCGGCG	0.692													10	26					0	0	0	0	C	29675878	T	C	29675878	3	2	119	1	0	0	0	0	1	0	0	0	15163	1696	59	5	831	5	SPN	16	29675878	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	1857057	29675878	60678875	470	22856											
STX4	6810	broad.mit.edu	37	chr16	31051077	31051077	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccatctgtgtgtccatcAccgtcgtcctcctagcagtc	5	13	8	15	2	2	0	1	0	1	0	7	0	5	0	5	0	2	1	5	0	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:31051077A>G	ENST00000394998.1	+	11	1184	c.841A>G	c.(841-843)Acc>Gcc	p.T281A	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.T283A	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	283	Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TGTGTCCATCACCGTCGTCCT	0.602													99	160					0	0	0	0	G	31051077	A	G	31051077	3	3	119	1	0	0	0	0	1	0	0	0	15437	159	6	5	885	5	STX4	16	31051077	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	1375199	31051077	59303676	471	22857											
ITGAX	3687	broad.mit.edu	37	chr16	31374634	31374634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaggagaggaggagaaccGgggtgctgtctacctgtttc	8	8	15	10	1	1	2	0	0	1	2	2	5	1	3	3	5	3	2	3	5	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:31374634G>A	ENST00000268296.4	+	14	1770	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	ITGAX_ENST00000562522.1_Missense_Mutation_p.R550Q	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	550					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.R550Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GAGGAGAACCGGGGTGCTGTC	0.632													84	166					0	0	0	0	A	31374634	G	A	31374634	3	1	119	1	0	0	0	0	1	0	0	0	7942	1116	39	1	1703	1	ITGAX	16	31374634	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	323557	31374634	58980119	472	22858											
CDH11	1009	broad.mit.edu	37	chr16	65016142	65016142	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctgataaacttcgggtcGatgtgcacgttggctgcctc	6	13	12	10	3	0	1	0	1	0	0	3	2	0	1	1	2	4	4	1	2	2	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:65016142G>A	ENST00000394156.3	-	8	1515	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	CDH11_ENST00000268603.4_Silent_p.I354I|CDH11_ENST00000566827.1_Silent_p.I228I			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	354	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACTTCGGGTCGATGTGCACGT	0.468			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			41	27					0	0	0	0	A	65016142	G	A	65016142	2	1	119	1	0	0	0	0	0	0	0	1	3126	1048	37	1		1	CDH11	16	65016142	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	33641508	65016142	25338611	473	22859											
FAM65A	79567	broad.mit.edu	37	chr16	67575783	67575783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagaacatgctgcgacGgcaggaggagctggagaatg	11	7	15	8	2	1	2	1	0	1	2	2	6	1	4	0	4	4	3	0	4	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:67575783G>T	ENST00000540839.3	+	14	1374	c.1154G>T	c.(1153-1155)cGg>cTg	p.R385L	FAM65A_ENST00000422602.2_Missense_Mutation_p.R385L|FAM65A_ENST00000042381.4_Missense_Mutation_p.R365L|FAM65A_ENST00000379312.3_Missense_Mutation_p.R369L|FAM65A_ENST00000428437.2_Missense_Mutation_p.R379L			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	369						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		ATGCTGCGACGGCAGGAGGAG	0.587													30	33					1.7881e-09	2.05532e-09	1	0	T	67575783	G	T	67575783	3	4	119	1	0	0	0	0	1	0	0	0	5645	1116	39	3	1140	3	FAM65A	16	67575783	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2559641	67575783	22778970	474	22860											
PMFBP1	83449	broad.mit.edu	37	chr16	72154044	72154044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgctggctctggttggttCcctgctagaaaggacagata	8	11	13	9	0	1	2	0	0	1	2	2	3	2	3	1	4	2	6	1	4	3	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:72154044C>T	ENST00000355636.6	-	20	2951	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	PMFBP1_ENST00000537465.1_Intron|PMFBP1_ENST00000537792.1_Intron|PMFBP1_ENST00000237353.10_Intron	NM_001160213.1	NP_001153685.1	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	928										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)				CTGGTTGGTTCCCTGCTAGAA	0.532													55	37					0	0	0	0	T	72154044	C	T	72154044	3	4	119	1	0	0	0	0	1	0	0	0	12206	864	30	2	318	2	PMFBP1	16	72154044	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	4578261	72154044	18200709	475	22861											
CMIP	80790	broad.mit.edu	37	chr16	81739204	81739204	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgctggcctgctggcccTgagctgtgagtgcctccggg	4	8	16	13	2	0	3	0	2	0	1	1	3	1	3	4	3	3	3	4	3	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:81739204T>G	ENST00000537098.3	+	19	2264	c.2192T>G	c.(2191-2193)cTg>cGg	p.L731R	CMIP_ENST00000398040.4_Missense_Mutation_p.L578R|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.L637R	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	697						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CTGCTGGCCCTGAGCTGTGAG	0.622													5	4					0	0	0	0	G	81739204	T	G	81739204	3	3	119	1	0	0	0	0	1	0	0	0	3608	1580	55	5	2288	5	CMIP	16	81739204	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	9585160	81739204	8615549	476	22862											
CAMTA2	23125	broad.mit.edu	37	chr17	4883494	4883494	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaaaacgatcagggtcaaAggcaggactgggaggagctg	14	4	17	6	1	2	1	2	0	0	1	2	6	2	4	0	5	2	2	0	5	3	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:4883494A>C	ENST00000361571.5	-	8	1531	c.1120T>G	c.(1120-1122)Ttt>Gtt	p.F374V	CAMTA2_ENST00000414043.3_Missense_Mutation_p.F398V|CAMTA2_ENST00000348066.3_Missense_Mutation_p.F375V|CAMTA2_ENST00000381311.5_Missense_Mutation_p.F377V|CAMTA2_ENST00000358183.4_Missense_Mutation_p.F375V|CAMTA2_ENST00000572543.1_Missense_Mutation_p.F380V	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	375					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TCAGGGTCAAAGGCAGGACTG	0.607													57	50					0	0	0	0	C	4883494	A	C	4883494	3	2	119	1	0	0	0	0	1	0	0	0	2639	72	3	5	2595	5	CAMTA2	17	4883494	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08		4883494	76311716	477	22863											
TP53	7157	broad.mit.edu	37	chr17	7577610	7577610	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtacagtcagagccaaccTaggagataacacaggcccaa	15	5	10	11	0	1	2	1	0	0	2	1	3	1	2	3	3	4	1	3	3	5	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:7577610T>A	ENST00000420246.2	-	7	805		c.e7-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGAGCCAACCTAGGAGATAAC	0.522		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			86	19					0	0	0	0	A	7577610	T	A	7577610	5	1	119	1	0	0	0	0	0	0	1	0	16476	1536	53	5	619	5	TP53	17	7577610	Splice_Site	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	2694116	7577610	73617600	478	22864											
MYH13	8735	broad.mit.edu	37	chr17	10227485	10227485	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctcctcttcctcttccaAtctctccgtcagctccttga	5	15	3	18	1	5	1	1	1	4	0	11	1	9	1	5	0	1	1	5	0	1	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:10227485A>G	ENST00000418404.3	-	22	2951	c.2788T>C	c.(2788-2790)Ttg>Ctg	p.L930L	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Silent_p.L930L|MYH13_ENST00000252172.4_Silent_p.L930L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	930					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTTCCAATCTCTCCGTC	0.453													85	24					0	0	0	0	G	10227485	A	G	10227485	2	3	119	1	0	0	0	0	0	0	0	1	10102	98	4	5		5	MYH13	17	10227485	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	2649875	10227485	70967725	479	22865											
MYOCD	93649	broad.mit.edu	37	chr17	12655897	12655897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcacacccaacacgctgcCcaattaccagtcttcctctt	9	11	4	17	1	3	0	1	0	2	0	4	0	4	0	4	0	3	1	4	0	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:12655897C>T	ENST00000425538.1	+	10	1492	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L	MYOCD_ENST00000343344.4_Missense_Mutation_p.P431L|MYOCD_ENST00000395988.1_Missense_Mutation_p.P335L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	431					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AACACGCTGCCCAATTACCAG	0.577													117	116					0	0	0	0	T	12655897	C	T	12655897	3	4	119	1	0	0	0	0	1	0	0	0	10157	623	22	4	1330	4	MYOCD	17	12655897	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2428412	12655897	68539313	480	22866											
MYO15A	51168	broad.mit.edu	37	chr17	18023725	18023725	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggggcttcctcacgccGcgccagcgcaacctccagcg	5	7	11	18	5	2	0	1	0	1	0	4	0	4	0	5	2	3	2	5	2	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:18023725G>T	ENST00000205890.5	+	2	1949	c.1611G>T	c.(1609-1611)ccG>ccT	p.P537P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	537	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCCTCACGCCGCGCCAGCGCA	0.721													22	21					1.64113e-05	1.77096e-05	1	0	T	18023725	G	T	18023725	2	4	119	1	0	0	0	0	0	0	0	1	10133	1074	38	3		3	MYO15A	17	18023725	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	5367828	18023725	63171485	481	22867											
GIT1	28964	broad.mit.edu	37	chr17	27903557	27903557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctctcgctgcagcctccGgagctcgtcgctcaggctac	5	8	10	18	4	2	0	1	0	1	0	6	1	3	1	3	2	4	5	3	2	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:27903557G>A	ENST00000225394.3	-	13	1611	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W	GIT1_ENST00000581348.1_Missense_Mutation_p.R464W|GIT1_ENST00000579937.1_Missense_Mutation_p.R455W|GIT1_ENST00000394869.3_Missense_Mutation_p.R464W|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	455					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGCAGCCTCCGGAGCTCGTCG	0.622													37	74					0	0	0	0	A	27903557	G	A	27903557	3	1	119	1	0	0	0	0	1	0	0	0	6447	1115	39	1	954	1	GIT1	17	27903557	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	9879832	27903557	53291653	482	22868											
CCL1	6346	broad.mit.edu	37	chr17	32688835	32688835	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggagcagatggagctggTatttctgtaacacaggattg	11	12	13	5	0	1	1	0	0	1	1	1	4	1	4	0	4	3	4	0	4	2	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:32688835T>C	ENST00000225842.3	-	2	226	c.157A>G	c.(157-159)Acc>Gcc	p.T53A		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	53					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		ATGGAGCTGGTATTTCTGTAA	0.493											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	93	136					0	0	0	0	C	32688835	T	C	32688835	3	2	119	1	0	0	0	0	1	0	0	0	2909	1638	57	5	141	5	CCL1	17	32688835	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	4785278	32688835	48506375	483	22869											
RASL10B	91608	broad.mit.edu	37	chr17	34068216	34068216	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaactggcacatcctgctGctcttcagcgagctgctcaa	9	10	8	14	1	3	0	2	0	1	0	4	1	4	0	1	1	7	5	1	1	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:34068216G>A	ENST00000268864.3	+	4	881	c.504G>A	c.(502-504)ctG>ctA	p.L168L		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	168	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACATCCTGCTGCTCTTCAGCG	0.662													21	59					0	0	0	0	A	34068216	G	A	34068216	2	1	119	1	0	0	0	0	0	0	0	1	13162	1306	46	4		4	RASL10B	17	34068216	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1379381	34068216	47126994	484	22870											
SYNRG	11276	broad.mit.edu	37	chr17	35932028	35932028	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatcagaatgggatacagTttggcagtatctattccagt	12	12	10	7	0	2	1	1	0	1	1	3	3	3	2	1	2	1	3	1	2	4	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:35932028T>C	ENST00000339208.6	-	9	1100	c.960A>G	c.(958-960)aaA>aaG	p.K320K	SYNRG_ENST00000394378.2_Silent_p.K242K|SYNRG_ENST00000345615.4_Silent_p.K242K|SYNRG_ENST00000591288.1_Silent_p.K242K|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000346661.4_Silent_p.K320K|SYNRG_ENST00000585472.1_Silent_p.K241K|SYNRG_ENST00000502449.2_Silent_p.K242K	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	320	EH.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGGATACAGTTTGGCAGTAT	0.403													44	87					0	0	0	0	C	35932028	T	C	35932028	2	2	119	1	0	0	0	0	0	0	0	1	15551	1722	60	5		5	SYNRG	17	35932028	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	1863812	35932028	45263182	485	22871											
CWC25	54883	broad.mit.edu	37	chr17	36958448	36958448	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtagatgcactctccAgcttcatgcggctaggaaga	12	8	12	9	1	2	2	1	0	1	2	3	4	2	4	1	3	3	4	1	3	4	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:36958448A>G	ENST00000225428.4	-	10	1472	c.1175T>C	c.(1174-1176)cTg>cCg	p.L392P	CWC25_ENST00000536127.1_Missense_Mutation_p.L329P	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	392										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						TGCACTCTCCAGCTTCATGCG	0.443													11	23					0	0	0	0	G	36958448	A	G	36958448	3	3	119	1	0	0	0	0	1	0	0	0	4101	188	7	5	106	5	CWC25	17	36958448	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	1026420	36958448	44236762	486	22872											
KRTAP4-2	85291	broad.mit.edu	37	chr17	39334160	39334160	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcagcactggggtctgAagcagctggacacacagcag	11	5	14	11	0	1	1	0	1	1	0	1	2	1	2	0	4	4	5	0	4	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:39334160A>C	ENST00000377726.2	-	1	300	c.257T>G	c.(256-258)tTc>tGc	p.F86C		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	86	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CTGGGGTCTGAAGCAGCTGGA	0.672													22	104					0	0	0	0	C	39334160	A	C	39334160	3	2	119	1	0	0	0	0	1	0	0	0	8604	246	9	5	157	5	KRTAP4-2	17	39334160	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	2375712	39334160	41861050	487	22873											
KRTAP4-2	85291	broad.mit.edu	37	chr17	39334273	39334273	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacagactggcagcactgCggtctgcagcagctggacac	10	5	12	14	1	1	1	0	0	1	1	1	2	1	2	0	3	5	5	0	3	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:39334273C>G	ENST00000377726.2	-	1	187	c.144G>C	c.(142-144)ccG>ccC	p.P48P		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	48	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament		p.P165P(1)|p.P48P(1)		kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGCAGCACTGCGGTCTGCAGC	0.672													31	97					0	0	0	0	G	39334273	C	G	39334273	2	3	119	1	0	0	0	0	0	0	0	1	8604	755	27	3		3	KRTAP4-2	17	39334273	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	113	39334273	41860937	488	22874											
KRT32	3882	broad.mit.edu	37	chr17	39620373	39620373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctccagcgtgttgaccGtgcgtctcaggtcaatgatg	7	11	12	11	4	3	2	2	2	2	0	5	3	3	2	2	1	2	1	2	1	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:39620373G>T	ENST00000225899.3	-	5	1056	c.953C>A	c.(952-954)aCg>aAg	p.T318K		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	318	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CGTGTTGACCGTGCGTCTCAG	0.587													23	67					9.95505e-16	1.28298e-15	1	0	T	39620373	G	T	39620373	3	4	119	1	0	0	0	0	1	0	0	0	8520	1145	40	3	405	3	KRT32	17	39620373	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	286100	39620373	41574837	489	22875											
KRT13	3860	broad.mit.edu	37	chr17	39659680	39659680	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgctctggcgcagggcCagctcattctcatacctaaa	9	9	8	15	2	3	0	2	0	2	0	5	0	4	0	3	2	2	3	3	2	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:39659680C>G	ENST00000246635.3	-	3	640	c.594G>C	c.(592-594)ctG>ctC	p.L198L	KRT13_ENST00000336861.3_Silent_p.L198L|KRT13_ENST00000587544.1_Silent_p.L198L	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	198	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GGCGCAGGGCCAGCTCATTCT	0.493													36	56					0	0	0	0	G	39659680	C	G	39659680	2	3	119	1	0	0	0	0	0	0	0	1	8502	581	21	4		4	KRT13	17	39659680	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	39307	39659680	41535530	490	22876											
ACLY	47	broad.mit.edu	37	chr17	40034450	40034450	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagatcttcgtatacagacCtgggaggcaggaaaaaaaag	16	6	12	7	2	1	2	0	0	1	2	2	5	1	4	1	3	1	2	1	3	6	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:40034450C>A	ENST00000352035.2	-	22	2524		c.e22-1		ACLY_ENST00000590151.1_Splice_Site|ACLY_ENST00000393896.2_Splice_Site|ACLY_ENST00000537919.1_Splice_Site|ACLY_ENST00000353196.1_Splice_Site	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase						ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GTATACAGACCTGGGAGGCAG	0.507													8	25					0.000157383	0.000166357	1	0	A	40034450	C	A	40034450	5	1	119	1	0	0	0	0	0	0	1	0	143	695	24	4	944	4	ACLY	17	40034450	Splice_Site	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	374770	40034450	41160760	491	22877											
CRHR1	1394	broad.mit.edu	37	chr17	43893833	43893833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctctgcccccaggactGcagtgcaacgcatccgtgga	7	7	11	16	3	1	0	0	0	1	0	3	2	2	2	4	2	4	3	4	2	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:43893833G>A	ENST00000314537.5	+	3	351	c.126G>A	c.(124-126)ctG>ctA	p.L42L	CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000398285.3_Silent_p.L42L|CRHR1_ENST00000352855.5_Intron|RP11-105N13.4_ENST00000587305.1_RNA|CRHR1_ENST00000577353.1_Silent_p.L42L|CRHR1_ENST00000339069.5_5'UTR	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	42					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCCCAGGACTGCAGTGCAACG	0.642													25	29					0	0	0	0	A	43893833	G	A	43893833	2	1	119	1	0	0	0	0	0	0	0	1	3901	1306	46	4		4	CRHR1	17	43893833	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3859383	43893833	37301377	492	22878											
MAPT	4137	broad.mit.edu	37	chr17	44049301	44049301	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgctaagagcactccAacagcggaaggtgggccccc	10	6	12	13	1	1	2	0	1	1	1	2	3	2	3	3	3	4	2	3	3	3	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:44049301A>T	ENST00000347967.5	+	3	532	c.17A>T	c.(16-18)cAa>cTa	p.Q6L	MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Silent_p.P70P|MAPT_ENST00000574436.1_Silent_p.P70P|MAPT_ENST00000340799.5_Silent_p.P70P|MAPT_ENST00000344290.5_Silent_p.P70P|MAPT_ENST00000351559.5_Silent_p.P70P|MAPT_ENST00000535772.1_Silent_p.P70P|MAPT_ENST00000431008.3_Silent_p.P70P|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000420682.2_Silent_p.P70P|MAPT_ENST00000415613.2_Silent_p.P70P|MAPT_ENST00000571987.1_Silent_p.P70P			P10636	TAU_HUMAN	microtubule-associated protein tau	35					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AGAGCACTCCAACAGCGGAAG	0.617													15	44					0	0	0	0	T	44049301	A	T	44049301	3	4	119	1	0	0	0	0	1	0	0	0	9366	117	5	5	216	5	MAPT	17	44049301	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	155468	44049301	37145909	493	22879											
MYCBPAP	84073	broad.mit.edu	37	chr17	48586068	48586068	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggattcccgcctcagAataactccgaccagattatt	14	9	7	11	2	1	3	1	0	0	3	3	5	3	4	4	1	1	0	4	1	5	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:48586068A>G	ENST00000323776.5	+	1	324	c.162A>G	c.(160-162)agA>agG	p.R54R	MYCBPAP_ENST00000436259.2_Silent_p.R17R|MYCBPAP_ENST00000419930.1_Silent_p.R54R	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	17					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCCGCCTCAGAATAACTCCGA	0.622													11	8					0	0	0	0	G	48586068	A	G	48586068	2	3	119	1	0	0	0	0	0	0	0	1	10089	243	9	5		5	MYCBPAP	17	48586068	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	4536767	48586068	32609142	494	22880											
ABCC3	8714	broad.mit.edu	37	chr17	48735816	48735816	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacccctaccctgagaccagCgctggctttctctcccgcct	6	9	7	19	2	1	1	0	1	1	1	3	2	2	1	6	1	3	2	6	1	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:48735816C>T	ENST00000285238.8	+	6	713	c.633C>T	c.(631-633)agC>agT	p.S211S	ABCC3_ENST00000427699.1_Silent_p.S211S	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	211					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTGAGACCAGCGCTGGCTTTC	0.582													50	104					0	0	0	0	T	48735816	C	T	48735816	2	4	119	1	0	0	0	0	0	0	0	1	54	767	27	1		1	ABCC3	17	48735816	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	149748	48735816	32459394	495	22881											
CLTC	1213	broad.mit.edu	37	chr17	57756760	57756760	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatcatatcttctttaggtTtgcaatgagaattccctctt	9	18	5	9	0	4	1	1	1	3	1	5	2	5	1	1	1	1	2	1	1	5	8			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:57756760T>G	ENST00000269122.3	+	18	3073	c.2799T>G	c.(2797-2799)gtT>gtG	p.V933V	CLTC_ENST00000393043.1_Silent_p.V933V|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	933	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTCTTTAGGTTTGCAATGAGA	0.363			T	"ALK, TFE3"	"ALCL, renal "								19	31					0	0	0	0	G	57756760	T	G	57756760	2	3	119	1	0	0	0	0	0	0	0	1	3596	1828	64	5		5	CLTC	17	57756760	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	9020944	57756760	23438450	496	22882											
PRKCA	5578	broad.mit.edu	37	chr17	64637527	64637527	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacggaagccccaccttcTgcgatcactgtgggtcactg	7	10	10	14	2	3	0	2	0	1	0	3	2	3	1	3	2	3	0	3	2	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:64637527T>G	ENST00000413366.3	+	4	369	c.343T>G	c.(343-345)Tgc>Ggc	p.C115G		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	115					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CCCCACCTTCTGCGATCACTG	0.473													90	113					0	0	0	0	G	64637527	T	G	64637527	3	3	119	1	0	0	0	0	1	0	0	0	12587	1580	55	5	357	5	PRKCA	17	64637527	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	6880767	64637527	16557683	497	22883											
ABCA8	10351	broad.mit.edu	37	chr17	66871463	66871463	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggaggggctccacttgTgccaggttcttcaccttcat	6	12	11	12	0	3	0	2	0	1	0	4	1	4	1	3	4	1	3	3	4	0	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:66871463T>A	ENST00000269080.2	-	35	4586	c.4449A>T	c.(4447-4449)gcA>gcT	p.A1483A	ABCA8_ENST00000430352.2_Silent_p.A1523A|ABCA8_ENST00000586539.1_Silent_p.A1523A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1483						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCTCCACTTGTGCCAGGTTCT	0.488													33	67					0	0	0	0	A	66871463	T	A	66871463	2	1	119	1	0	0	0	0	0	0	0	1	38	1683	59	5		5	ABCA8	17	66871463	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	2233936	66871463	14323747	498	22884											
ABCA8	10351	broad.mit.edu	37	chr17	66877284	66877284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagcagttggttttgtgtCtccagttatcaccttaatgg	7	16	9	9	0	2	0	1	0	1	0	4	0	3	0	3	2	1	4	3	2	2	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:66877284C>T	ENST00000269080.2	-	30	4032	c.3895G>A	c.(3895-3897)Gac>Aac	p.D1299N	ABCA8_ENST00000430352.2_Missense_Mutation_p.D1339N|ABCA8_ENST00000586539.1_Missense_Mutation_p.D1339N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1299	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTTTTGTGTCTCCAGTTATC	0.328													25	32					0	0	0	0	T	66877284	C	T	66877284	3	4	119	1	0	0	0	0	1	0	0	0	38	913	32	2	886	2	ABCA8	17	66877284	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	5821	66877284	14317926	499	22885											
ABCA8	10351	broad.mit.edu	37	chr17	66925212	66925212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggccattccaagcatgaagGcaaagggactaagcaagctt	14	6	12	9	0	0	1	0	1	0	0	1	2	1	2	2	3	3	4	2	3	5	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:66925212G>T	ENST00000269080.2	-	8	1240	c.1103C>A	c.(1102-1104)gCc>gAc	p.A368D	ABCA8_ENST00000430352.2_Missense_Mutation_p.A368D|ABCA8_ENST00000586539.1_Missense_Mutation_p.A368D	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	368						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAGCATGAAGGCAAAGGGACT	0.463													21	41					3.62473e-10	4.2201e-10	1	0	T	66925212	G	T	66925212	3	4	119	1	0	0	0	0	1	0	0	0	38	1203	42	4	3766	4	ABCA8	17	66925212	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	47928	66925212	14269998	500	22886											
CD300E	342510	broad.mit.edu	37	chr17	72608865	72608865	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctcaggagcaggggcAgcttcagaaggaccacgagc	11	4	15	11	1	2	1	2	0	0	1	2	4	2	3	1	4	4	5	1	4	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:72608865A>G	ENST00000392619.1	-	4	661	c.626T>C	c.(625-627)cTg>cCg	p.L209P	CD300E_ENST00000328630.3_Missense_Mutation_p.L182P|CD300E_ENST00000426295.2_Missense_Mutation_p.L223P	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	182						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGCAGGGGCAGCTTCAGAAG	0.617													68	99					0	0	0	0	G	72608865	A	G	72608865	3	3	119	1	0	0	0	0	1	0	0	0	3027	188	7	5	76	5	CD300E	17	72608865	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	5683653	72608865	8586345	501	22887											
DNAH17	8632	broad.mit.edu	37	chr17	76475683	76475683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgagggcctcctggccgGggaagctcacagcaaacacg	9	5	15	12	2	1	1	1	1	0	0	2	2	2	2	3	5	3	2	3	5	2	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:76475683G>A	ENST00000389840.5	-	50	7866	c.7742C>T	c.(7741-7743)cCc>cTc	p.P2581L	DNAH17_ENST00000585328.1_Missense_Mutation_p.P2590L|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCCTGGCCGGGGAAGCTCAC	0.602													89	104					0	0	0	0	A	76475683	G	A	76475683	3	1	119	1	0	0	0	0	1	0	0	0	4638	1232	43	4	5732	4	DNAH17	17	76475683	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3866818	76475683	4719527	502	22888											
ADCYAP1	116	broad.mit.edu	37	chr18	908354	908354	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcagtcgctcgtggccCggggcgtggggtaagagttt	5	9	17	10	4	0	1	0	0	0	1	2	1	0	1	2	5	1	4	2	5	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:908354C>A	ENST00000579794.1	+	3	609	c.331C>A	c.(331-333)Cgg>Agg	p.R111R	ADCYAP1_ENST00000450565.3_Silent_p.R111R	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	111					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GCTCGTGGCCCGGGGCGTGGG	0.706													28	161					3.57733e-08	4.02867e-08	1	0	A	908354	C	A	908354	2	1	119	1	0	0	0	0	0	0	0	1	302	643	23	3		3	ADCYAP1	18	908354	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08		908354	77168894	503	22889											
TGIF1	7050	broad.mit.edu	37	chr18	3456507	3456507	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattggctgtatgagcacCgttacaatgcctatccttca	9	12	10	10	1	1	1	1	1	0	0	2	2	2	2	3	2	3	4	3	2	4	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:3456507C>G	ENST00000472042.1	+	1	1096	c.112C>G	c.(112-114)Cgt>Ggt	p.R38G	TGIF1_ENST00000401449.1_Missense_Mutation_p.R38G|TGIF1_ENST00000345133.5_Missense_Mutation_p.R38G|TGIF1_ENST00000343820.5_Missense_Mutation_p.R58G|TGIF1_ENST00000400167.2_Missense_Mutation_p.R38G|TGIF1_ENST00000577543.1_Missense_Mutation_p.R58G|TGIF1_ENST00000551541.1_Missense_Mutation_p.R38G|TGIF1_ENST00000330513.5_Missense_Mutation_p.R187G|TGIF1_ENST00000551402.1_Missense_Mutation_p.R58G|TGIF1_ENST00000548489.2_Missense_Mutation_p.R72G|TGIF1_ENST00000407501.2_Missense_Mutation_p.R58G|TGIF1_ENST00000405385.3_Missense_Mutation_p.R38G			Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	187					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GTATGAGCACCGTTACAATGC	0.502													93	1519					0	0	0	0	G	3456507	C	G	3456507	3	3	119	1	0	0	0	0	1	0	0	0	15919	652	23	3	647	3	TGIF1	18	3456507	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2548153	3456507	74620741	504	22890											
LAMA1	284217	broad.mit.edu	37	chr18	6943343	6943343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcacagagcacagtggcgGttttgggctcatatgcagct	9	10	12	10	1	2	1	2	0	0	1	2	1	2	1	0	3	3	5	0	3	1	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:6943343G>A	ENST00000389658.3	-	62	8996	c.8903C>T	c.(8902-8904)aCc>aTc	p.T2968I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2968	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACAGTGGCGGTTTTGGGCTC	0.443													38	54					0	0	0	0	A	6943343	G	A	6943343	3	1	119	1	0	0	0	0	1	0	0	0	8658	1261	44	4	332	4	LAMA1	18	6943343	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3486836	6943343	71133905	505	22891											
TXNDC2	84203	broad.mit.edu	37	chr18	9887577	9887577	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagtccccagaagaagccatCcagcccaaggagggtgacat	14	4	11	12	0	0	3	0	1	0	2	2	4	2	4	5	2	2	0	5	2	4	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:9887577C>T	ENST00000306084.6	+	2	1300	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.I300I	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	367	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAGAAGCCATCCAGCCCAAGG	0.567													143	134					0	0	0	0	T	9887577	C	T	9887577	2	4	119	1	0	0	0	0	0	0	0	1	16893	845	30	2		2	TXNDC2	18	9887577	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2944234	9887577	68189671	506	22892											
APCDD1	147495	broad.mit.edu	37	chr18	10471671	10471671	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcatccggggcaagatccgCctccgccaggcctcctggat	7	7	11	16	3	1	1	1	0	0	1	5	2	5	2	7	4	0	1	7	4	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:10471671C>A	ENST00000355285.4	+	3	741	c.387C>A	c.(385-387)cgC>cgA	p.R129R	APCDD1_ENST00000578882.1_Silent_p.R129R	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	129					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GCAAGATCCGCCTCCGCCAGG	0.562													43	72					6.4771e-29	9.25483e-29	1	0	A	10471671	C	A	10471671	2	1	119	1	0	0	0	0	0	0	0	1	766	726	26	4		4	APCDD1	18	10471671	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	584094	10471671	67605577	507	22893											
POTEC	388468	broad.mit.edu	37	chr18	14542810	14542810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccacgttgctcttgccGctccccctgcagcaggggaa	5	7	12	17	3	1	0	0	0	1	0	2	1	2	1	4	2	4	5	4	2	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:14542810G>T	ENST00000358970.5	-	1	335	c.336C>A	c.(334-336)agC>agA	p.S112R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	112										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCTTGCCGCTCCCCCTGC	0.592													124	386					2.20786e-56	3.32559e-56	1	0	T	14542810	G	T	14542810	3	4	119	1	0	0	0	0	1	0	0	0	12334	1078	38	3	1336	3	POTEC	18	14542810	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	4071139	14542810	63534438	508	22894											
ASXL3	80816	broad.mit.edu	37	chr18	31322991	31322991	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcagatatcaaggcccGggcccaacaagctcgggccc	9	4	11	17	3	1	1	1	0	0	1	3	1	1	1	4	3	2	2	4	3	4	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:31322991G>C	ENST00000269197.5	+	12	3179	c.3179G>C	c.(3178-3180)cGg>cCg	p.R1060P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1060	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATCAAGGCCCGGGCCCAACAA	0.617													20	13					0	0	0	0	C	31322991	G	C	31322991	3	2	119	1	0	0	0	0	1	0	0	0	1072	1116	39	3	3225	3	ASXL3	18	31322991	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	16780181	31322991	46754257	509	22895											
SLC14A2	8170	broad.mit.edu	37	chr18	43204711	43204711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgaggcagagtttaccagcCcgagctggccctcgacatcc	9	6	11	15	3	0	1	0	0	0	1	2	4	1	1	4	2	3	3	4	2	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:43204711C>A	ENST00000255226.6	+	2	898	c.82C>A	c.(82-84)Ccg>Acg	p.P28T	SLC14A2_ENST00000586448.1_Missense_Mutation_p.P28T	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	28						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTTACCAGCCCGAGCTGGCC	0.572													48	25					8.86878e-18	1.16797e-17	1	0	A	43204711	C	A	43204711	3	1	119	1	0	0	0	0	1	0	0	0	14485	623	22	4	84	4	SLC14A2	18	43204711	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	11881720	43204711	34872537	510	22896											
PIAS2	9063	broad.mit.edu	37	chr18	44392405	44392405	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcctcctttagtccaaTgagatgatgtcaggaatgtt	10	14	10	7	0	1	3	1	3	0	1	4	5	4	4	3	1	0	1	3	1	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:44392405T>G	ENST00000585916.1	-	14	1856	c.1857A>C	c.(1855-1857)tcA>tcC	p.S619S		NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	619					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						TTTAGTCCAATGAGATGATGT	0.418													10	7					0	0	0	0	G	44392405	T	G	44392405	2	3	119	1	0	0	0	0	0	0	0	1	11948	1451	51	5		5	PIAS2	18	44392405	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	1187694	44392405	33684843	511	22897											
CCDC11	220136	broad.mit.edu	37	chr18	47788587	47788587	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctttaggaggcttggaTctctgaaaacaaaaaccaac	14	9	9	9	0	1	1	0	1	1	0	2	3	1	3	2	4	3	1	2	4	6	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:47788587T>C	ENST00000398545.4	-	2	189	c.72A>G	c.(70-72)agA>agG	p.R24R		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	24										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GAGGCTTGGATCTCTGAAAAC	0.368													17	20					0	0	0	0	C	47788587	T	C	47788587	2	2	119	1	0	0	0	0	0	0	0	1	2771	1432	50	5		5	CCDC11	18	47788587	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	3396182	47788587	30288661	512	22898											
CCDC102B	79839	broad.mit.edu	37	chr18	66504330	66504330	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatggagtaaagttcgAgctgaaaggaacagtgccag	17	6	13	5	1	0	1	0	1	0	0	1	5	0	3	1	2	3	3	1	2	6	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:66504330A>T	ENST00000360242.5	+	2	447	c.330A>T	c.(328-330)cgA>cgT	p.R110R	CCDC102B_ENST00000358653.5_Silent_p.R110R|CCDC102B_ENST00000584156.1_Silent_p.R110R|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Silent_p.R110R	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	110										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GTAAAGTTCGAGCTGAAAGGA	0.463													38	30					0	0	0	0	T	66504330	A	T	66504330	2	4	119	1	0	0	0	0	0	0	0	1	2762	291	11	5		5	CCDC102B	18	66504330	Silent	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	18715743	66504330	11572918	513	22899											
SALL3	27164	broad.mit.edu	37	chr18	76754127	76754127	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgttcaagtgcaagatctgCggccgcgccttcaccaccaa	9	7	9	16	4	3	1	2	0	1	1	3	1	3	1	5	1	2	2	5	1	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:76754127C>T	ENST00000536229.3	+	1	2446	c.1737C>T	c.(1735-1737)tgC>tgT	p.C579C	SALL3_ENST00000537592.2_Silent_p.C712C|SALL3_ENST00000575389.2_Silent_p.C712C			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCAAGATCTGCGGCCGCGCCT	0.662													12	18					0	0	0	0	T	76754127	C	T	76754127	2	4	119	1	0	0	0	0	0	0	0	1	13897	776	27	1		1	SALL3	18	76754127	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	10249797	76754127	1323121	514	22900											
DOT1L	84444	broad.mit.edu	37	chr19	2210791	2210791	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggaagcccaagaagaacCaaactgcactggatgccctg	14	4	11	12	1	0	2	0	0	0	2	0	4	0	4	3	2	6	1	3	2	5	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:2210791C>T	ENST00000398665.3	+	14	1324	c.1288C>T	c.(1288-1290)Caa>Taa	p.Q430*		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	430						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.Q430*(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		CAAGAAGAACCAAACTGCACT	0.657													32	84					0	0	0	0	T	2210791	C	T	2210791	4	4	119	1	0	0	0	0	0	1	0	0	4745	595	21	4	1342	4	DOT1L	19	2210791	Nonsense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08		2210791	56918192	515	22901											
DOT1L	84444	broad.mit.edu	37	chr19	2216475	2216475	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcctcacttgagcagcAtgagcccggagctctccatg	7	8	11	15	2	2	2	1	2	1	0	3	3	2	3	3	1	5	4	3	1	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:2216475A>G	ENST00000398665.3	+	20	2155	c.2119A>G	c.(2119-2121)Atg>Gtg	p.M707V		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	707						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		CTTGAGCAGCATGAGCCCGGA	0.672													38	79					0	0	0	0	G	2216475	A	G	2216475	3	3	119	1	0	0	0	0	1	0	0	0	4745	217	8	5	2197	5	DOT1L	19	2216475	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	5684	2216475	56912508	516	22902											
LMNB2	84823	broad.mit.edu	37	chr19	2434809	2434809	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctggaggccggagagctGgtagctgagggactccaggc	7	7	17	10	1	1	2	0	1	1	1	2	5	2	4	2	6	2	3	2	6	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:2434809G>A	ENST00000325327.3	-	6	1020	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	LMNB2_ENST00000582871.1_Nonsense_Mutation_p.Q300*			Q03252	LMNB2_HUMAN	lamin B2	300	Coil 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		CCGGAGAGCTGGTAGCTGAGG	0.687													10	18					0	0	0	0	A	2434809	G	A	2434809	4	1	119	1	0	0	0	0	0	1	0	0	8905	1357	47	4	932	4	LMNB2	19	2434809	Nonsense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	218334	2434809	56694174	517	22903											
EEF2	1938	broad.mit.edu	37	chr19	3981953	3981954	+	Frame_Shift_Ins	INS	-	-	G																															ccctcactcaccttgaagatINSggggtccaggatcagctggc																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:3981953_3981954insG	ENST00000309311.6	-	6	976_977	c.888_889insC	c.(886-891)cctcttfs	p.L297fs		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	297						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTGAAGATGGGGTCCAGGA	0.653													58	165	---	---	---	---					G	3981954	-	G	3981953	7	5	119	1	0	1	1	0	0	0	0	0	4965	1464	51	0	1727	0	EEF2	19	3981953	Frame_Shift_Ins	INS	-	TCGA-CN-A63U-01A-11D-A30E-08	1547144	3981953	55147030	518	22904											
CREB3L3	84699	broad.mit.edu	37	chr19	4154951	4154951	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctttgagctcctggatcTcctgtttgaccggcaggacg	6	11	12	12	2	1	2	0	2	1	0	3	4	2	4	3	3	2	4	3	3	0	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:4154951T>C	ENST00000078445.2	+	2	230	c.83T>C	c.(82-84)cTc>cCc	p.L28P	CREB3L3_ENST00000602257.1_Missense_Mutation_p.L28P|CREB3L3_ENST00000595923.1_Missense_Mutation_p.L28P|CREB3L3_ENST00000602147.1_Missense_Mutation_p.L28P|CREB3L3_ENST00000252587.3_Missense_Mutation_p.L19P	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	28					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTGGATCTCCTGTTTGAC	0.627													56	115					0	0	0	0	C	4154951	T	C	4154951	3	2	119	1	0	0	0	0	1	0	0	0	3888	1551	54	5	89	5	CREB3L3	19	4154951	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	172998	4154951	54974032	519	22905											
ANKRD24	170961	broad.mit.edu	37	chr19	4216579	4216579	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgagaaggacgagacacaGatggaagtggaagctttggc	13	8	15	5	1	0	3	0	1	0	3	0	8	0	6	0	4	1	1	0	4	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:4216579G>A	ENST00000600132.1	+	18	1698	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	ANKRD24_ENST00000262970.5_Silent_p.Q564Q|ANKRD24_ENST00000318934.4_Silent_p.Q474Q	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	474										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		ACGAGACACAGATGGAAGTGG	0.602													6	11					0	0	0	0	A	4216579	G	A	4216579	2	1	119	1	0	0	0	0	0	0	0	1	653	933	33	2		2	ANKRD24	19	4216579	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	61628	4216579	54912404	520	22906											
SHD	56961	broad.mit.edu	37	chr19	4290529	4290529	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacagcgggcccttccccAgcgtgcccgagctcgtcctc	6	6	10	19	4	0	0	0	0	0	0	4	1	2	0	5	1	5	1	5	1	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:4290529A>T	ENST00000543264.2	+	6	2385	c.922A>T	c.(922-924)Agc>Tgc	p.S308C	SHD_ENST00000599689.1_Missense_Mutation_p.S268C	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	308	SH2.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTTCCCCAGCGTGCCCGA	0.672													39	84					0	0	0	0	T	4290529	A	T	4290529	3	4	119	1	0	0	0	0	1	0	0	0	14363	188	7	5	944	5	SHD	19	4290529	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	73950	4290529	54838454	521	22907											
MCOLN1	57192	broad.mit.edu	37	chr19	7589876	7589876	+	Frame_Shift_Del	DEL	G	G	-																															ggcttctgacccccaaccccGggtatgggacccaggcgggg																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:7589876delG	ENST00000264079.6	+	2	186	c.61delG	c.(61-63)ggfs	p.G21fs		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	21					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCCAACCCCGGGTATGGGAC	0.617													19	48	---	---	---	---					-	7589876	G	-	7589876	7	5	119	1	0	1	0	1	0	0	0	0	9464	1116	39	0	67	0	MCOLN1	19	7589876	Frame_Shift_Del	DEL	G	TCGA-CN-A63U-01A-11D-A30E-08	3299347	7589876	51539107	522	22908											
ADAMTS10	81794	broad.mit.edu	37	chr19	8670004	8670004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctctgccaggccaggccctCccgtgtccagtactccacgg	5	7	10	19	2	1	0	0	0	1	0	4	0	4	0	7	3	2	1	7	3	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:8670004C>G	ENST00000270328.4	-	3	594	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E110Q|ADAMTS10_ENST00000596709.1_5'UTR			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	110					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCCAGGCCCTCCCGTGTCCAG	0.677													22	26					0	0	0	0	G	8670004	C	G	8670004	3	3	119	1	0	0	0	0	1	0	0	0	256	864	30	2	3075	2	ADAMTS10	19	8670004	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1080128	8670004	50458979	523	22909											
MUC16	94025	broad.mit.edu	37	chr19	9014624	9014624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccagtatagctgctccCtgtccactccagggcttttg	5	12	9	15	0	0	0	0	0	0	0	4	0	4	0	4	1	2	5	4	1	2	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:9014624C>A	ENST00000397910.4	-	31	38554	c.38351G>T	c.(38350-38352)aGg>aTg	p.R12784M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12786	SEA 5.			Missing (in Ref. 3; AAK74120).	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						TAGCTGCTCCCTGTCCACTCC	0.577													81	117					2.33925e-33	3.40297e-33	1	0	A	9014624	C	A	9014624	3	1	119	1	0	0	0	0	1	0	0	0	10043	681	24	4	5388	4	MUC16	19	9014624	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	344620	9014624	50114359	524	22910											
MUC16	94025	broad.mit.edu	37	chr19	9088007	9088007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccaggttttactactgaagCcatggtaagtttgatggtgc	9	13	12	7	0	0	2	0	2	0	0	0	2	0	2	2	3	4	3	2	3	4	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:9088007C>T	ENST00000397910.4	-	1	4011	c.3808G>A	c.(3808-3810)Gct>Act	p.A1270T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1270	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						ACTACTGAAGCCATGGTAAGT	0.493													154	380					0	0	0	0	T	9088007	C	T	9088007	3	4	119	1	0	0	0	0	1	0	0	0	10043	739	26	4	40051	4	MUC16	19	9088007	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	73383	9088007	50040976	525	22911											
MUC16	94025	broad.mit.edu	37	chr19	9088024	9088024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagccatggtaagtttgatgGtgcttggactttctgaacta	10	14	11	6	0	1	2	0	2	1	0	1	3	1	3	1	3	3	3	1	3	4	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:9088024G>A	ENST00000397910.4	-	1	3994	c.3791C>T	c.(3790-3792)aCc>aTc	p.T1264I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1264	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						AAGTTTGATGGTGCTTGGACT	0.498													177	421					0	0	0	0	A	9088024	G	A	9088024	3	1	119	1	0	0	0	0	1	0	0	0	10043	1261	44	4	40068	4	MUC16	19	9088024	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	17	9088024	50040959	526	22912											
ZNF560	147741	broad.mit.edu	37	chr19	9578249	9578249	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattccttatgctcatatggCttctctccattatgaactct	8	18	4	11	0	3	1	1	1	2	0	6	1	5	1	2	1	2	2	2	1	5	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:9578249C>T	ENST00000301480.4	-	10	1587	c.1374G>A	c.(1372-1374)aaG>aaA	p.K458K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GCTCATATGGCTTCTCTCCAT	0.413													77	146					0	0	0	0	T	9578249	C	T	9578249	2	4	119	1	0	0	0	0	0	0	0	1	18086	796	28	4		4	ZNF560	19	9578249	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	490225	9578249	49550734	527	22913											
ZNF700	90592	broad.mit.edu	37	chr19	12060409	12060409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttattctgccaagtcatttCaaacacatgaaaaaactcac	16	12	3	10	0	4	1	3	1	1	0	4	1	4	1	1	0	3	0	1	0	6	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:12060409C>G	ENST00000482090.1	+	3	1934	c.1516C>G	c.(1516-1518)Caa>Gaa	p.Q506E	ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.Q524E|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CAAGTCATTTCAAACACATGA	0.373													33	68					0	0	0	0	G	12060409	C	G	12060409	3	3	119	1	0	0	0	0	1	0	0	0	18199	827	29	2	1584	2	ZNF700	19	12060409	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2482160	12060409	47068574	528	22914											
MAST1	22983	broad.mit.edu	37	chr19	12958691	12958691	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatggaggagaagctgcgCgactttacccgcgcctacga	10	6	13	12	5	0	2	0	0	0	2	0	6	0	3	2	2	4	1	2	2	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:12958691C>G	ENST00000251472.4	+	7	633	c.594C>G	c.(592-594)cgC>cgG	p.R198R	MAST1_ENST00000591495.1_Silent_p.R194R	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	198					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGAAGCTGCGCGACTTTACCC	0.701											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	8					0	0	0	0	G	12958691	C	G	12958691	2	3	119	1	0	0	0	0	0	0	0	1	9393	755	27	3		3	MAST1	19	12958691	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	898282	12958691	46170292	529	22915											
CYP4F12	66002	broad.mit.edu	37	chr19	15789122	15789122	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgacccagatgtcggccaccTattcccagggctttacgata	9	9	9	14	3	0	1	0	0	0	1	2	3	1	1	4	2	1	1	4	2	3	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:15789122T>C	ENST00000550308.1	+	3	630	c.250T>C	c.(250-252)Tat>Cat	p.Y84H	CYP4F12_ENST00000324632.9_Missense_Mutation_p.Y84H	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GTCGGCCACCTATTCCCAGGG	0.512													60	142					0	0	0	0	C	15789122	T	C	15789122	3	2	119	1	0	0	0	0	1	0	0	0	4219	1522	53	5	256	5	CYP4F12	19	15789122	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	2830431	15789122	43339861	530	22916											
OR10H1	26539	broad.mit.edu	37	chr19	15918704	15918704	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcgctcgctccagacGgtggccatgatgagcaggtt	7	8	15	11	3	0	3	0	2	0	1	2	3	1	3	2	4	2	5	2	4	0	1	rs142314142	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:15918704G>A	ENST00000334920.2	-	1	232	c.144C>T	c.(142-144)acC>acT	p.T48T		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CGCTCCAGACGGTGGCCATGA	0.617													49	101					0	0	0	0	A	15918704	G	A	15918704	2	1	119	1	0	0	0	0	0	0	0	1	10976	1103	39	1		1	OR10H1	19	15918704	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	129582	15918704	43210279	531	22917											
CHERP	10523	broad.mit.edu	37	chr19	16638948	16638948	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaccaagggggcttgttTggtgggatctggtcgtgtgg	6	12	17	6	1	2	0	1	0	1	0	3	1	2	1	1	6	1	2	1	6	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:16638948T>C	ENST00000546361.2	-	9	1399	c.1248A>G	c.(1246-1248)ccA>ccG	p.P416P	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Silent_p.P427P	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	416	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGGGCTTGTTTGGTGGGATCT	0.647													32	107					0	0	0	0	C	16638948	T	C	16638948	2	2	119	1	0	0	0	0	0	0	0	1	3365	1799	63	5		5	CHERP	19	16638948	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	720244	16638948	42490035	532	22918											
ARMC6	93436	broad.mit.edu	37	chr19	19166153	19166153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatgctattgtccgtgctgGtgggacggagtccatcgtgg	6	11	16	8	3	0	1	0	0	0	1	3	3	2	3	2	4	2	2	2	4	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:19166153G>T	ENST00000535612.1	+	7	1535	c.1103G>T	c.(1102-1104)gGt>gTt	p.G368V	ARMC6_ENST00000392335.2_Missense_Mutation_p.G343V|ARMC6_ENST00000269932.6_Missense_Mutation_p.G343V|ARMC6_ENST00000392336.3_Missense_Mutation_p.G368V|ARMC6_ENST00000546344.1_Missense_Mutation_p.G275V	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	368							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GTCCGTGCTGGTGGGACGGAG	0.627													40	70					6.5261e-18	8.62591e-18	1	0	T	19166153	G	T	19166153	3	4	119	1	0	0	0	0	1	0	0	0	959	1261	44	4	1046	4	ARMC6	19	19166153	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2527205	19166153	39962830	533	22919											
ZNF682	91120	broad.mit.edu	37	chr19	20117004	20117004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctagtaaggtgtgagcacCgattaaaggcttttccacat	11	12	10	8	1	1	1	0	1	1	0	2	2	2	1	2	2	1	3	2	2	4	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:20117004C>G	ENST00000397165.2	-	4	1467	c.1307G>C	c.(1306-1308)cGg>cCg	p.R436P	ZNF682_ENST00000397162.1_Missense_Mutation_p.R404P|ZNF682_ENST00000358523.5_Missense_Mutation_p.R404P|ZNF682_ENST00000597972.1_Missense_Mutation_p.R442P|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.R360P	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GTGTGAGCACCGATTAAAGGC	0.388													28	68					0	0	0	0	G	20117004	C	G	20117004	3	3	119	1	0	0	0	0	1	0	0	0	18184	652	23	3	193	3	ZNF682	19	20117004	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	950851	20117004	39011979	534	22920											
ZNF257	113835	broad.mit.edu	37	chr19	22255703	22255703	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatttatatagggatgtGatgttagagaactacagaaa	17	11	10	3	0	0	4	0	1	0	3	0	6	0	5	0	1	2	1	0	1	8	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:22255703G>T	ENST00000594947.1	+	2	240	c.96G>T	c.(94-96)gtG>gtT	p.V32V	ZNF257_ENST00000600162.1_Silent_p.V32V	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATAGGGATGTGATGTTAGAGA	0.388													72	126					6.09464e-36	9.04809e-36	1	0	T	22255703	G	T	22255703	2	4	119	1	0	0	0	0	0	0	0	1	17895	1277	45	2		2	ZNF257	19	22255703	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2138699	22255703	36873280	535	22921											
ZNF99	7652	broad.mit.edu	37	chr19	22939269	22939269	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgtagggtttctttcCagtatgaattatcctatgtt	9	19	7	6	0	1	1	0	1	1	0	3	1	3	1	2	1	0	4	2	1	5	8	rs74170734		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:22939269C>A	ENST00000397104.3	-	7	2901	c.2902G>T	c.(2902-2904)Gga>Tga	p.G968*						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTTTCTTTCCAGTATGAATT	0.358													15	32					0.00316338	0.00325338	1	0	A	22939269	C	A	22939269	4	1	119	1	0	0	0	0	0	1	0	0	18297	603	21	4	214	4	ZNF99	19	22939269	Nonsense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	683566	22939269	36189714	536	22922											
TSHZ3	57616	broad.mit.edu	37	chr19	31769229	31769229	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctcttcttcgccaggCttgtctttttgcttaggttt	2	21	7	11	1	4	0	0	0	4	0	6	0	4	0	2	2	1	3	2	2	1	8			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:31769229C>T	ENST00000240587.4	-	2	1797	c.1470G>A	c.(1468-1470)aaG>aaA	p.K490K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	490					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTCGCCAGGCTTGTCTTTTT	0.468													56	249					0	0	0	0	T	31769229	C	T	31769229	2	4	119	1	0	0	0	0	0	0	0	1	16720	796	28	4		4	TSHZ3	19	31769229	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	8829960	31769229	27359754	537	22923											
ANKRD27	84079	broad.mit.edu	37	chr19	33110209	33110209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcctgccttgagctggctGacatggaggagaagctggaa	9	8	14	10	0	0	3	0	2	0	1	1	6	1	5	3	4	3	3	3	4	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:33110209G>A	ENST00000306065.4	-	20	2122	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	655					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGAGCTGGCTGACATGGAGGA	0.647													29	114					0	0	0	0	A	33110209	G	A	33110209	3	1	119	1	0	0	0	0	1	0	0	0	655	1294	45	2	1228	2	ANKRD27	19	33110209	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1340980	33110209	26018774	538	22924											
U2AF1L4	199746	broad.mit.edu	37	chr19	36234912	36234912	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccacccttgaactaccataCcccatctcatactggcgaca	11	8	4	18	1	1	1	1	1	1	0	2	2	1	1	5	1	4	0	5	1	4	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:36234912C>T	ENST00000412391.2	-	6	496		c.e6+1		U2AF1L4_ENST00000378975.3_Splice_Site|AD000671.6_ENST00000589807.1_Intron|U2AF1L4_ENST00000292879.5_Intron			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4						mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AACTACCATACCCCATCTCAT	0.552													18	65					0	0	0	0	T	36234912	C	T	36234912	5	4	119	1	0	0	0	0	0	0	1	0	16918	521	18	4	312	4	U2AF1L4	19	36234912	Splice_Site	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	3124703	36234912	22894071	539	22925											
ZNF566	84924	broad.mit.edu	37	chr19	36939917	36939917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctgaataagttgtgggtCataattaaagttctttccac	12	15	8	6	0	2	1	1	1	1	0	3	1	3	1	1	1	1	3	1	1	5	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:36939917C>T	ENST00000454319.1	-	5	1356	c.1222G>A	c.(1222-1224)Gac>Aac	p.D408N	ZNF566_ENST00000392170.2_Missense_Mutation_p.D408N|ZNF566_ENST00000434377.2_Missense_Mutation_p.D407N|ZNF566_ENST00000493391.1_Missense_Mutation_p.D303N|ZNF566_ENST00000424129.2_Missense_Mutation_p.D407N	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					AGTTGTGGGTCATAATTAAAG	0.333													6	23					0	0	0	0	T	36939917	C	T	36939917	3	4	119	1	0	0	0	0	1	0	0	0	18092	826	29	2	41	2	ZNF566	19	36939917	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	705005	36939917	22189066	540	22926											
LRFN1	57622	broad.mit.edu	37	chr19	39805043	39805043	+	Missense_Mutation	SNP	C	C	A																															gctcaccgcctggccttccaCcaccagggcccggccccccg																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:39805043C>A	ENST00000248668.4	-	1	933	c.934G>T	c.(934-936)Gtg>Ttg	p.V312L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	312	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGGCCTTCCACCACCAGGGCC	0.706													7	12					0.00198382	0.002049	1	0	A	39805043	C	A	39805043	3	1	119	1	0	0	0	0	1	0	0	0	9001	507	18	4	1389	4	LRFN1	19	39805043	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2865126	39805043	19323940	541	22927	190	2									
LRFN1	57622	broad.mit.edu	37	chr19	39805044	39805044	+	Silent	SNP	C	C	A																															ctcaccgcctggccttccacCaccagggcccggccccccgc																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:39805044C>A	ENST00000248668.4	-	1	932	c.933G>T	c.(931-933)gtG>gtT	p.V311V		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	311	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGCCTTCCACCACCAGGGCCC	0.706													7	12					0.00198382	0.002049	1	0	A	39805044	C	A	39805044	2	1	119	1	0	0	0	0	0	0	0	1	9001	581	21	4		4	LRFN1	19	39805044	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1	39805044	19323939	542	22928	190	2									
ADCK4	79934	broad.mit.edu	37	chr19	41220505	41220505	+	Frame_Shift_Del	DEL	C	C	-																															tggcccagctgtccaccggtCccccgaagtaggccccccac																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:41220505delC	ENST00000324464.3	-	2	334	c.33delG	c.(31-33)ggfs	p.G11fs	ADCK4_ENST00000450541.1_Frame_Shift_Del_p.G11fs|ADCK4_ENST00000243583.6_Frame_Shift_Del_p.G11fs	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	11						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GTCCACCGGTCCCCCGAAGTA	0.657													49	61	---	---	---	---					-	41220505	C	-	41220505	7	5	119	1	0	1	0	1	0	0	0	0	290	842	30	0	1657	0	ADCK4	19	41220505	Frame_Shift_Del	DEL	C	TCGA-CN-A63U-01A-11D-A30E-08	1415461	41220505	17908478	543	22929											
C19orf54	284325	broad.mit.edu	37	chr19	41248439	41248439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccggccgtcagtggcccGtgagggcgagaagtccgtca	7	5	15	14	5	2	2	2	1	0	1	3	3	3	2	4	3	0	0	4	3	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:41248439G>A	ENST00000378313.2	-	6	1074	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000598729.1_Missense_Mutation_p.R147W|C19orf54_ENST00000339153.3_Intron	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	319										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCAGTGGCCCGTGAGGGCGAG	0.647													7	12					0	0	0	0	A	41248439	G	A	41248439	3	1	119	1	0	0	0	0	1	0	0	0	1954	1144	40	1	104	1	C19orf54	19	41248439	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	27934	41248439	17880544	544	22930											
PSG8	440533	broad.mit.edu	37	chr19	43262174	43262174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagattcagggtgaatGggtcactgcggctggcactc	8	8	17	8	1	2	2	2	1	0	1	3	4	2	3	0	6	1	2	0	6	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:43262174G>T	ENST00000404209.4	-	3	785	c.689C>A	c.(688-690)cCa>cAa	p.P230Q	PSG8_ENST00000306511.4_Missense_Mutation_p.P230Q|PSG8_ENST00000406636.3_Missense_Mutation_p.P108Q|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	230	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CAGGGTGAATGGGTCACTGCG	0.527													183	496					8.39465e-107	1.27507e-106	1	0	T	43262174	G	T	43262174	3	4	119	1	0	0	0	0	1	0	0	0	12740	1348	47	4	624	4	PSG8	19	43262174	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2013735	43262174	15866809	545	22931											
PSG5	5673	broad.mit.edu	37	chr19	43683276	43683276	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcctccctggggtttaagTtgctactggagatggagggc	6	11	16	8	0	0	1	0	0	0	1	1	3	1	2	2	6	2	3	2	6	2	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:43683276T>A	ENST00000599812.1	-	3	559	c.464A>T	c.(463-465)aAc>aTc	p.N155I	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000404580.1_Intron|PSG5_ENST00000366175.3_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	155	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGGGTTTAAGTTGCTACTGGA	0.512													109	178					0	0	0	0	A	43683276	T	A	43683276	3	1	119	1	0	0	0	0	1	0	0	0	12737	1740	60	5		5	PSG5	19	43683276	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	421102	43683276	15445707	546	22932											
ZNF226	7769	broad.mit.edu	37	chr19	44679718	44679718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagaagagctttcttgttgGcaaatctggcaacaaattgc	13	11	10	7	0	2	2	0	0	2	2	2	3	2	2	0	2	3	4	0	2	5	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:44679718G>T	ENST00000590089.1	+	7	670	c.303G>T	c.(301-303)tgG>tgT	p.W101C	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.W101C|ZNF226_ENST00000454662.2_Missense_Mutation_p.W101C			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TTTCTTGTTGGCAAATCTGGC	0.378													20	20					1.01871e-10	1.21339e-10	1	0	T	44679718	G	T	44679718	3	4	119	1	0	0	0	0	1	0	0	0	17875	1212	42	4	371	4	ZNF226	19	44679718	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	996442	44679718	14449265	547	22933											
DHX34	9704	broad.mit.edu	37	chr19	47865833	47865833	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcggaagggccgggcGggccgcacgggccccggagt	6	1	21	13	6	0	0	0	0	0	0	0	3	0	2	4	6	2	2	4	6	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:47865833G>C	ENST00000328771.4	+	6	1825	c.1476G>C	c.(1474-1476)gcG>gcC	p.A492A	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	492	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGGGCCGGGCGGGCCGCACGG	0.647													6	26					0	0	0	0	C	47865833	G	C	47865833	2	2	119	1	0	0	0	0	0	0	0	1	4544	1103	39	3		3	DHX34	19	47865833	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3186115	47865833	11263150	548	22934											
CCDC114	93233	broad.mit.edu	37	chr19	48806048	48806048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgcgctgctgcaacacCttctgctgctgctcctgcag	5	11	9	16	1	1	0	0	0	1	0	3	0	3	0	3	0	8	7	3	0	1	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:48806048C>A	ENST00000315396.7	-	10	1714	c.1032G>T	c.(1030-1032)aaG>aaT	p.K344N		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	344										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCTGCAACACCTTCTGCTGCT	0.622													31	137					4.74835e-14	5.89873e-14	1	0	A	48806048	C	A	48806048	3	1	119	1	0	0	0	0	1	0	0	0	2776	680	24	4	1000	4	CCDC114	19	48806048	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	940215	48806048	10322935	549	22935											
PLEKHA4	57664	broad.mit.edu	37	chr19	49351230	49351230	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtgtgggggcggtttcTgggggccacccagacctgcc	4	8	17	12	1	1	1	0	0	1	1	1	1	1	1	4	5	1	1	4	5	0	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:49351230T>C	ENST00000263265.6	-	14	2048	c.1493A>G	c.(1492-1494)cAg>cGg	p.Q498R	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.Q473R	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	498						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGCGGTTTCTGGGGGCCACC	0.592													27	30					0	0	0	0	C	49351230	T	C	49351230	3	2	119	1	0	0	0	0	1	0	0	0	12130	1580	55	5	874	5	PLEKHA4	19	49351230	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	545182	49351230	9777753	550	22936											
ASPDH	554235	broad.mit.edu	37	chr19	51015734	51015734	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggcagagcccacggacaGggccttcgtagagcacagtg	10	4	16	11	2	0	2	0	0	0	2	1	3	0	3	2	4	2	3	2	4	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:51015734G>C	ENST00000389208.4	-	5	597	c.536C>G	c.(535-537)cCt>cGt	p.P179R	ASPDH_ENST00000597030.1_5'UTR|ASPDH_ENST00000376916.3_Missense_Mutation_p.P74R	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	179					NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding			endometrium(1)|large_intestine(1)|lung(1)	3						CCCACGGACAGGGCCTTCGTA	0.672													18	13					0	0	0	0	C	51015734	G	C	51015734	3	2	119	1	0	0	0	0	1	0	0	0	1055	1000	35	4	327	4	ASPDH	19	51015734	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1664504	51015734	8113249	551	22937											
KLK15	55554	broad.mit.edu	37	chr19	51330287	51330287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggctggactaggcgcaGcaacatgatgtcgttgcggt	7	9	16	9	4	0	1	0	1	0	0	1	2	0	2	0	4	4	4	0	4	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:51330287G>T	ENST00000326856.4	-	4	454	c.325C>A	c.(325-327)Ctg>Atg	p.L109M	KLK15_ENST00000416184.1_Missense_Mutation_p.L110M|KLK15_ENST00000598239.1_Missense_Mutation_p.L110M|KLK15_ENST00000301421.2_Missense_Mutation_p.L110M|KLK15_ENST00000596931.1_Missense_Mutation_p.L109M	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	110	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACTAGGCGCAGCAACATGATG	0.692													34	93					6.84511e-11	8.16669e-11	1	0	T	51330287	G	T	51330287	3	4	119	1	0	0	0	0	1	0	0	0	8455	962	34	4	454	4	KLK15	19	51330287	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	314553	51330287	7798696	552	22938											
KLK13	26085	broad.mit.edu	37	chr19	51563204	51563204	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaccggggactgcagcTccagaagcatgatgtcatgg	9	7	15	10	1	1	2	1	1	0	1	2	4	2	4	2	4	3	4	2	4	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:51563204T>C	ENST00000595793.1	-	3	428	c.386A>G	c.(385-387)gAg>gGg	p.E129G	KLK13_ENST00000596955.1_Missense_Mutation_p.E129G|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	129	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGACTGCAGCTCCAGAAGCAT	0.607													13	78					0	0	0	0	C	51563204	T	C	51563204	3	2	119	1	0	0	0	0	1	0	0	0	8453	1551	54	5	459	5	KLK13	19	51563204	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	232917	51563204	7565779	553	22939											
ZNF836	162962	broad.mit.edu	37	chr19	52660719	52660719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtctttccagcgtcaCtgtttggcatttttctcctg	4	19	7	11	1	4	0	2	0	2	0	6	0	5	0	2	1	1	2	2	1	0	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:52660719C>A	ENST00000322146.8	-	5	738	c.217G>T	c.(217-219)Gtg>Ttg	p.V73L	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.V73L	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCAGCGTCACTGTTTGGCAT	0.358													11	18					1.58986e-06	1.74692e-06	1	0	A	52660719	C	A	52660719	3	1	119	1	0	0	0	0	1	0	0	0	18280	565	20	4	2595	4	ZNF836	19	52660719	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1097515	52660719	6468264	554	22940											
ZNF347	84671	broad.mit.edu	37	chr19	53645668	53645668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgatactcaaggccatgtGtatttttctggacttccctg	8	16	8	9	0	2	1	1	1	1	0	3	2	3	2	2	2	1	1	2	2	3	6			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:53645668G>A	ENST00000452676.2	-	5	842	c.416C>T	c.(415-417)aCa>aTa	p.T139I	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.T138I|ZNF347_ENST00000601469.2_Missense_Mutation_p.T139I	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGCCATGTGTATTTTTCTG	0.418													45	59					0	0	0	0	A	53645668	G	A	53645668	3	1	119	1	0	0	0	0	1	0	0	0	17956	1377	48	4	2110	4	ZNF347	19	53645668	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	984949	53645668	5483315	555	22941											
CACNG8	59283	broad.mit.edu	37	chr19	54483177	54483177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgccatcctgctgctgctcGggggtgtgtgcgtggcggcc	1	9	18	13	4	0	0	0	0	0	0	2	0	1	0	3	4	4	3	3	4	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:54483177G>C	ENST00000270458.2	+	3	527	c.424G>C	c.(424-426)Ggg>Cgg	p.G142R		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	142					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GCTGCTGCTCGGGGGTGTGTG	0.637													8	24					0	0	0	0	C	54483177	G	C	54483177	3	2	119	1	0	0	0	0	1	0	0	0	2588	1116	39	3	434	3	CACNG8	19	54483177	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	837509	54483177	4645806	556	22942											
LENG8	114823	broad.mit.edu	37	chr19	54969305	54969305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatgaagagtttaaccaGtgccagacgcagctcaagtc	13	7	10	11	1	1	3	1	1	0	2	2	4	1	3	3	0	3	3	3	0	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:54969305G>T	ENST00000326764.5	+	14	2405	c.1926G>T	c.(1924-1926)caG>caT	p.Q642H	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	605							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGTTTAACCAGTGCCAGACGC	0.572													39	57					1.96642e-18	2.6231e-18	1	0	T	54969305	G	T	54969305	3	4	119	1	0	0	0	0	1	0	0	0	8777	1020	36	4	1976	4	LENG8	19	54969305	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	486128	54969305	4159678	557	22943											
LILRA2	11027	broad.mit.edu	37	chr19	55087315	55087315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctctcggtgcagccggtcCccacagtagccccaggaaag	8	6	11	16	2	1	0	0	0	1	0	4	1	2	1	5	3	3	2	5	3	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:55087315C>T	ENST00000251377.3	+	7	1127	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P320S|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P332S|LILRA2_ENST00000391738.3_Missense_Mutation_p.P332S|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GCAGCCGGTCCCCACAGTAGC	0.602													26	32					0	0	0	0	T	55087315	C	T	55087315	3	4	119	1	0	0	0	0	1	0	0	0	8839	623	22	4	1016	4	LILRA2	19	55087315	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	118010	55087315	4041668	558	22944											
LILRB1	10859	broad.mit.edu	37	chr19	55146110	55146110	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtctgggaaggcacctggGggttgtgatcggcatcttgg	6	10	18	7	1	2	1	0	1	2	0	3	2	2	2	1	7	0	3	1	7	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:55146110G>C	ENST00000396331.1	+	11	1736	c.1379G>C	c.(1378-1380)gGg>gCg	p.G460A	LILRB1_ENST00000448689.1_Missense_Mutation_p.G460A|LILRB1_ENST00000324602.7_Missense_Mutation_p.G461A|LILRB1_ENST00000418536.2_Missense_Mutation_p.G444A|LILRB1_ENST00000434867.2_Missense_Mutation_p.G460A|LILRB1_ENST00000396327.3_Missense_Mutation_p.G461A|LILRB1_ENST00000427581.2_Missense_Mutation_p.G510A|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Missense_Mutation_p.G461A|LILRB1_ENST00000396332.4_Missense_Mutation_p.G460A|LILRB1_ENST00000396317.1_Missense_Mutation_p.G444A|LILRB1_ENST00000396321.2_Missense_Mutation_p.G460A	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	460					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGGCACCTGGGGGTTGTGATC	0.572										HNSCC(37;0.09)			17	34					0	0	0	0	C	55146110	G	C	55146110	3	2	119	1	0	0	0	0	1	0	0	0	8844	1232	43	4	1416	4	LILRB1	19	55146110	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	58795	55146110	3982873	559	22945											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701420	56701420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgtaaggtggactcgtGggcgaaccgcttttggcaga	7	9	15	10	3	0	1	0	0	0	1	1	3	0	2	2	4	1	3	2	4	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:56701420G>T	ENST00000586855.2	-	5	1577	c.1264C>A	c.(1264-1266)Cac>Aac	p.H422N	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.H422N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	422					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTGGACTCGTGGGCGAACCGC	0.562													30	40					1.08312e-15	1.38847e-15	1	0	T	56701420	G	T	56701420	3	4	119	1	0	0	0	0	1	0	0	0	18330	1348	47	4	227	4	ZSCAN5B	19	56701420	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1555310	56701420	2427563	560	22946											
ZNF71	58491	broad.mit.edu	37	chr19	57132924	57132924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggctgtgtcctggtccCaccacggctggacgacccca	7	6	11	17	2	0	0	0	0	0	0	2	2	2	1	6	4	0	2	6	4	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:57132924C>T	ENST00000328070.6	+	3	503	c.269C>T	c.(268-270)cCa>cTa	p.P90L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	90						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GTCCTGGTCCCACCACGGCTG	0.587													13	41					0	0	0	0	T	57132924	C	T	57132924	3	4	119	1	0	0	0	0	1	0	0	0	18209	594	21	4	271	4	ZNF71	19	57132924	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	431504	57132924	1996059	561	22947											
PEG3	5178	broad.mit.edu	37	chr19	57327373	57327373	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgaactctctgatggttgaTagcatcgaagctctgaatgg	11	11	11	8	2	2	3	0	3	2	0	4	5	2	3	0	2	3	3	0	2	4	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:57327373T>C	ENST00000326441.9	-	10	2800	c.2437A>G	c.(2437-2439)Atc>Gtc	p.I813V	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.I687V|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.I813V|PEG3_ENST00000598410.1_Missense_Mutation_p.I689V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	813					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGATGGTTGATAGCATCGAAG	0.473													71	97					0	0	0	0	C	57327373	T	C	57327373	3	2	119	1	0	0	0	0	1	0	0	0	11791	1406	49	5	2333	5	PEG3	19	57327373	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	194449	57327373	1801610	562	22948											
AURKC	6795	broad.mit.edu	37	chr19	57743544	57743544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcgcagatagagaaggaagGactggagcaccagctgcgcc	12	4	15	10	2	0	2	0	0	0	2	1	6	0	5	2	3	3	3	2	3	3	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:57743544G>T	ENST00000302804.7	+	3	434	c.248G>T	c.(247-249)gGa>gTa	p.G83V	AURKC_ENST00000598785.1_Missense_Mutation_p.G49V|AURKC_ENST00000599062.1_Missense_Mutation_p.G80V|AURKC_ENST00000448930.1_Missense_Mutation_p.G49V|AURKC_ENST00000415300.2_Missense_Mutation_p.G64V	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	83	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GAGAAGGAAGGACTGGAGCAC	0.512													19	25					5.26018e-13	6.42417e-13	1	0	T	57743544	G	T	57743544	3	4	119	1	0	0	0	0	1	0	0	0	1228	1174	41	2	263	2	AURKC	19	57743544	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	416171	57743544	1385439	563	22949											
ZNF551	90233	broad.mit.edu	37	chr19	58199496	58199496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagaccttatgagtgcaGtcaatgtgggaaacccttta	14	10	10	7	0	1	3	1	1	0	2	1	4	1	4	2	1	2	1	2	1	5	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:58199496G>A	ENST00000282296.5	+	3	2038	c.1853G>A	c.(1852-1854)aGt>aAt	p.S618N	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.S602N	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TATGAGTGCAGTCAATGTGGG	0.453													69	85					0	0	0	0	A	58199496	G	A	58199496	3	1	119	1	0	0	0	0	1	0	0	0	18078	1029	36	4	1815	4	ZNF551	19	58199496	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	455952	58199496	929487	564	22950											
SLC4A11	83959	broad.mit.edu	37	chr20	3212001	3212001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtgtctgtgggcagggaggGagactgtgctgcgttccttc	4	11	18	8	1	1	1	0	0	1	1	3	3	2	2	1	4	2	3	1	4	0	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:3212001G>A	ENST00000380059.3	-	8	1153	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.S308F|SLC4A11_ENST00000380056.3_Missense_Mutation_p.S324F	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	324					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGCAGGGAGGGAGACTGTGCT	0.662													33	48					0	0	0	0	A	3212001	G	A	3212001	3	1	119	1	0	0	0	0	1	0	0	0	14740	1174	41	2	1756	2	SLC4A11	20	3212001	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08		3212001	59813519	565	22951											
PLCB1	23236	broad.mit.edu	37	chr20	8113331	8113331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacccggagtgcacgccttGcaactcaagcccgtgtgcgt	8	7	11	15	4	1	0	1	0	0	0	1	1	1	1	3	1	6	2	3	1	3	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:8113331G>T	ENST00000378641.3	+	1	508	c.33G>T	c.(31-33)ttG>ttT	p.L11F	PLCB1_ENST00000378637.2_Missense_Mutation_p.L11F|PLCB1_ENST00000338037.6_Missense_Mutation_p.L11F	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	11				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).	activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCACGCCTTGCAACTCAAGC	0.692													16	11					6.49762e-13	7.92206e-13	1	0	T	8113331	G	T	8113331	3	4	119	1	0	0	0	0	1	0	0	0	12099	1310	46	4	35	4	PLCB1	20	8113331	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	4901330	8113331	54912189	566	22952											
SNAP25	6616	broad.mit.edu	37	chr20	10286817	10286817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgatgaggccaaccaacGtgcaacaaagatgctgggaa	16	6	11	8	1	0	3	0	2	0	1	0	4	0	4	2	2	5	2	2	2	6	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:10286817G>A	ENST00000254976.2	+	8	804	c.593G>A	c.(592-594)cGt>cAt	p.R198H	SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.R198H	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	198	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GCCAACCAACGTGCAACAAAG	0.458													10	28					0	0	0	0	A	10286817	G	A	10286817	3	1	119	1	0	0	0	0	1	0	0	0	14918	1145	40	1	741	1	SNAP25	20	10286817	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	2173486	10286817	52738703	567	22953											
PAX1	5075	broad.mit.edu	37	chr20	21689222	21689222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgggagcgaaggcaccGcttactctcccaagatggaa	10	7	13	11	2	1	1	0	0	1	1	2	4	1	3	2	4	2	3	2	4	4	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:21689222G>T	ENST00000398485.2	+	3	997	c.943G>T	c.(943-945)Gct>Tct	p.A315S	PAX1_ENST00000444366.2_Missense_Mutation_p.A291S|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	315					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGAAGGCACCGCTTACTCTCC	0.627													69	103					6.07461e-23	8.46232e-23	1	0	T	21689222	G	T	21689222	3	4	119	1	0	0	0	0	1	0	0	0	11549	1087	38	3	953	3	PAX1	20	21689222	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	11402405	21689222	41336298	568	22954											
PAX1	5075	broad.mit.edu	37	chr20	21689289	21689289	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccccgccacccccgcagTgaatgggctagagaaacctg	9	6	10	16	2	0	2	0	1	0	1	1	3	1	2	6	1	1	2	6	1	3	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:21689289T>A	ENST00000398485.2	+	3	1064	c.1010T>A	c.(1009-1011)gTg>gAg	p.V337E	PAX1_ENST00000444366.2_Missense_Mutation_p.V313E|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	337					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACCCCCGCAGTGAATGGGCTA	0.602													23	60					0	0	0	0	A	21689289	T	A	21689289	3	1	119	1	0	0	0	0	1	0	0	0	11549	1696	59	5	1020	5	PAX1	20	21689289	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	67	21689289	41336231	569	22955											
ABHD12	26090	broad.mit.edu	37	chr20	25300923	25300923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggtctttgccttgggCgttcttccaccagactgcag	5	13	10	13	1	3	1	0	0	3	1	4	1	4	1	3	2	2	2	3	2	0	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:25300923C>A	ENST00000339157.5	-	4	726	c.454G>T	c.(454-456)Gcc>Tcc	p.A152S	ABHD12_ENST00000376542.3_Missense_Mutation_p.A152S	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	152						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						TTGCCTTGGGCGTTCTTCCAC	0.582													18	39					5.35267e-07	5.93555e-07	1	0	A	25300923	C	A	25300923	3	1	119	1	0	0	0	0	1	0	0	0	76	768	27	3	844	3	ABHD12	20	25300923	Missense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	3611634	25300923	37724597	570	22956											
NCOA5	57727	broad.mit.edu	37	chr20	44690980	44690980	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccatgggggcctgtggctGccccatctgtgctgtggtct	2	12	14	13	0	2	0	0	0	2	0	3	0	3	0	4	4	2	2	4	4	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:44690980G>A	ENST00000290231.6	-	8	1863	c.1699C>T	c.(1699-1701)Cag>Tag	p.Q567*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	567	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GCCTGTGGCTGCCCCATCTGT	0.552													4	53					0	0	0	0	A	44690980	G	A	44690980	4	1	119	1	0	0	0	0	0	1	0	0	10302	1328	46	4	44	4	NCOA5	20	44690980	Nonsense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	19390057	44690980	18334540	571	22957											
SLC13A3	64849	broad.mit.edu	37	chr20	45188830	45188830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttcatcaggaggcctGtccgcacctgaaatagagcc	10	8	11	12	1	3	2	3	1	0	1	4	3	4	3	4	3	1	2	4	3	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:45188830G>C	ENST00000279027.4	-	13	1658	c.1640C>G	c.(1639-1641)aCa>aGa	p.T547R	SLC13A3_ENST00000495082.1_Missense_Mutation_p.T500R|SLC13A3_ENST00000396360.1_Missense_Mutation_p.T465R|SLC13A3_ENST00000290317.5_Missense_Mutation_p.T500R|SLC13A3_ENST00000413164.2_Missense_Mutation_p.T497R|SLC13A3_ENST00000472148.1_Missense_Mutation_p.T465R|SLC13A3_ENST00000435032.1_Missense_Mutation_p.T132R	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	547						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CAGGAGGCCTGTCCGCACCTG	0.562													46	101					0	0	0	0	C	45188830	G	C	45188830	3	2	119	1	0	0	0	0	1	0	0	0	14481	1377	48	4	172	4	SLC13A3	20	45188830	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	497850	45188830	17836690	572	22958											
ATP9A	10079	broad.mit.edu	37	chr20	50244148	50244148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaacttacttcaaagtcCtgatactgctcctctgcaag	12	11	6	12	0	2	1	1	1	1	0	4	2	4	1	2	0	6	2	2	0	6	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:50244148C>T	ENST00000338821.5	-	17	2100	c.1836G>A	c.(1834-1836)caG>caA	p.Q612Q	ATP9A_ENST00000311637.5_Silent_p.Q476Q|ATP9A_ENST00000402822.1_Silent_p.Q491Q	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	612					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTCAAAGTCCTGATACTGCT	0.547													149	249					0	0	0	0	T	50244148	C	T	50244148	2	4	119	1	0	0	0	0	0	0	0	1	1202	680	24	4		4	ATP9A	20	50244148	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	5055318	50244148	12781372	573	22959											
PMEPA1	56937	broad.mit.edu	37	chr20	56234686	56234686	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagtggctcagcaggcaCgtgatcaccaccaccatcac	10	8	9	14	1	3	1	3	1	0	0	3	1	3	1	3	2	1	4	3	2	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:56234686C>A	ENST00000341744.3	-	2	496	c.177G>T	c.(175-177)acG>acT	p.T59T	PMEPA1_ENST00000347215.4_Silent_p.T24T|PMEPA1_ENST00000395816.3_Silent_p.T9T|PMEPA1_ENST00000395814.1_Silent_p.T9T|PMEPA1_ENST00000265626.4_Silent_p.T9T|PMEPA1_ENST00000472841.1_5'UTR	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	59					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	p.T59T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TCAGCAGGCACGTGatcacca	0.582													11	19					4.84862e-15	6.18263e-15	1	0	A	56234686	C	A	56234686	2	1	119	1	0	0	0	0	0	0	0	1	12204	523	19	3		3	PMEPA1	20	56234686	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	5990538	56234686	6790834	574	22960											
NCAM2	4685	broad.mit.edu	37	chr21	22746196	22746196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaacagagcctggacggccGtatcgaagtcaaagggcagc	13	5	13	10	3	1	1	1	0	0	1	2	3	1	2	2	3	3	2	2	3	5	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr21:22746196G>T	ENST00000400546.1	+	9	1307	c.1058G>T	c.(1057-1059)cGt>cTt	p.R353L	NCAM2_ENST00000535285.1_Missense_Mutation_p.R378L|NCAM2_ENST00000284894.7_Missense_Mutation_p.R211L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	353	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.R353L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTGGACGGCCGTATCGAAGTC	0.408													37	58					3.61848e-18	4.80029e-18	1	0	T	22746196	G	T	22746196	3	4	119	1	0	0	0	0	1	0	0	0	10273	1145	40	3	1092	3	NCAM2	21	22746196	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08		22746196	25383699	575	22961											
IGSF5	150084	broad.mit.edu	37	chr21	41142994	41142994	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaagctattattttgtTccggagcccagcgaccttca	9	13	7	12	2	2	0	2	0	0	0	3	2	3	1	3	1	3	2	3	1	3	7			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr21:41142994T>C	ENST00000380588.4	+	4	673	c.570T>C	c.(568-570)gtT>gtC	p.V190V	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	190	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ATTATTTTGTTCCGGAGCCCA	0.542													33	46					0	0	0	0	C	41142994	T	C	41142994	2	2	119	1	0	0	0	0	0	0	0	1	7655	1770	62	5		5	IGSF5	21	41142994	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	18396798	41142994	6986901	576	22962											
KRTAP10-5	386680	broad.mit.edu	37	chr21	46000028	46000028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaatcctcagaacaggtgGgcacacagcacacgggcttg	12	5	13	11	1	1	1	1	0	0	1	2	2	2	2	1	4	2	3	1	4	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr21:46000028G>T	ENST00000400372.1	-	1	453	c.428C>A	c.(427-429)cCc>cAc	p.P143H	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	143	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						AGAACAGGTGGGCACACAGCA	0.612													111	230					4.98428e-49	7.46094e-49	1	0	T	46000028	G	T	46000028	3	4	119	1	0	0	0	0	1	0	0	0	8564	1232	43	4	391	4	KRTAP10-5	21	46000028	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	4857034	46000028	2129867	577	22963											
PCNT	5116	broad.mit.edu	37	chr21	47805845	47805845	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgggagaaccgggaaggCgcaaacctcctctccatgct	10	5	13	13	3	1	1	0	0	1	1	3	4	2	2	4	3	4	2	4	3	3	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr21:47805845C>T	ENST00000359568.5	+	17	3518	c.3411C>T	c.(3409-3411)ggC>ggT	p.G1137G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1137					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCGGGAAGGCGCAAACCTCC	0.607													51	80					0	0	0	0	T	47805845	C	T	47805845	2	4	119	1	0	0	0	0	0	0	0	1	11661	755	27	1		1	PCNT	21	47805845	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	1805817	47805845	324050	578	22964											
TSSK2	23617	broad.mit.edu	37	chr22	19119173	19119173	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctctgacggacggatctaCatcatcatggagcttggcgt	9	10	11	11	3	4	1	2	1	2	0	4	4	4	4	1	4	2	1	1	4	1	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:19119173C>G	ENST00000399635.2	+	1	853	c.261C>G	c.(259-261)taC>taG	p.Y87*	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	87	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GACGGATCTACATCATCATGG	0.552													23	36					0	0	0	0	G	19119173	C	G	19119173	4	3	119	1	0	0	0	0	0	1	0	0	16764	489	17	4	263	4	TSSK2	22	19119173	Nonsense_Mutation	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08		19119173	32185393	579	22965											
TXNRD2	10587	broad.mit.edu	37	chr22	19868178	19868178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagatctgaggacccgccGaagagccgctgcaccaggag	11	4	13	13	3	2	3	1	1	1	2	2	6	2	5	4	2	2	2	4	2	1	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:19868178G>A	ENST00000400519.1	-	13	1145	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	TXNRD2_ENST00000400518.1_Silent_p.F353F|TXNRD2_ENST00000535882.1_Silent_p.F382F|TXNRD2_ENST00000400521.1_Silent_p.F383F|TXNRD2_ENST00000542719.1_Silent_p.F353F|TXNRD2_ENST00000400525.1_Silent_p.F360F			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	383					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					AGGACCCGCCGAAGAGCCGCT	0.627													3	40					0	0	0	0	A	19868178	G	A	19868178	2	1	119	1	0	0	0	0	0	0	0	1	16904	1049	37	1		1	TXNRD2	22	19868178	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	749005	19868178	31436388	580	22966											
TOP3B	8940	broad.mit.edu	37	chr22	22317262	22317262	+	Frame_Shift_Del	DEL	C	C	-																															catagagccgccacgcgtcaCcccctgcaacaggccagggc																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:22317262delC	ENST00000398793.2	-	12	1642	c.1208delG	c.(1207-1209)gtfs	p.G403fs	TOP3B_ENST00000413067.2_Frame_Shift_Del_p.G132fs|TOP3B_ENST00000357179.5_Frame_Shift_Del_p.G403fs	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	403					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CCACGCGTCACCCCCTGCAAC	0.607													17	34	---	---	---	---					-	22317262	C	-	22317262	7	5	119	1	0	1	0	1	0	0	0	0	16463	507	18	0	1408	0	TOP3B	22	22317262	Frame_Shift_Del	DEL	C	TCGA-CN-A63U-01A-11D-A30E-08	2449084	22317262	28987304	581	22967											
PRAME	23532	broad.mit.edu	37	chr22	22892163	22892163	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgagcaactgatccAggcggcctctaaggaaaaat	13	7	9	12	1	2	2	1	2	1	0	3	3	3	3	3	3	2	1	3	3	4	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:22892163A>C	ENST00000543184.1	-	4	1800	c.938T>G	c.(937-939)cTg>cGg	p.L313R	PRAME_ENST00000398743.2_Missense_Mutation_p.L313R|PRAME_ENST00000539862.1_Missense_Mutation_p.L297R|PRAME_ENST00000424204.2_Missense_Mutation_p.L297R|PRAME_ENST00000405655.3_Missense_Mutation_p.L313R|PRAME_ENST00000398741.1_Missense_Mutation_p.L313R|PRAME_ENST00000402697.1_Missense_Mutation_p.L313R	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	313					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAACTGATCCAGGCGGCCTCT	0.483													18	18					0	0	0	0	C	22892163	A	C	22892163	3	2	119	1	0	0	0	0	1	0	0	0	12500	188	7	5	599	5	PRAME	22	22892163	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	574901	22892163	28412403	582	22968											
GGT5	2687	broad.mit.edu	37	chr22	24627431	24627431	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacagggtatagtcccccagGggcacctccagggcatccac	9	6	11	15	0	0	0	0	0	0	0	3	0	3	0	5	4	1	3	5	4	3	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:24627431G>T	ENST00000327365.4	-	6	1238	c.822C>A	c.(820-822)ccC>ccA	p.P274P	GGT5_ENST00000398292.3_Silent_p.P274P|GGT5_ENST00000263112.7_Silent_p.P242P|GGT5_ENST00000418439.2_Silent_p.P197P	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	274					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGTCCCCCAGGGGCACCTCCA	0.622													3	6					0.004672	0.00476425	1	0	T	24627431	G	T	24627431	2	4	119	1	0	0	0	0	0	0	0	1	6413	1219	43	4		4	GGT5	22	24627431	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	1735268	24627431	26677135	583	22969											
NIPSNAP1	8508	broad.mit.edu	37	chr22	29966184	29966184	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcatccaggtattcaggcTttacattgtgaactgcaaca	12	11	9	9	0	1	1	1	1	0	0	2	1	2	1	1	3	4	4	1	3	4	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:29966184T>A	ENST00000216121.7	-	3	493	c.239A>T	c.(238-240)aAg>aTg	p.K80M		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	80								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						GTATTCAGGCTTTACATTGTG	0.532													11	59					0	0	0	0	A	29966184	T	A	29966184	3	1	119	1	0	0	0	0	1	0	0	0	10499	1609	56	5	647	5	NIPSNAP1	22	29966184	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	5338753	29966184	21338382	584	22970											
MFNG	4242	broad.mit.edu	37	chr22	37882099	37882099	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggttcggctggctcagctcGggggtcccttgtacccgctg	2	10	16	13	3	1	0	1	0	0	0	4	0	2	0	2	5	2	6	2	5	1	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:37882099G>T	ENST00000356998.3	-	1	340	c.117C>A	c.(115-117)ccC>ccA	p.P39P	MFNG_ENST00000416983.3_Silent_p.P39P	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	39					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					GGCTCAGCTCGGGGGTCCCTT	0.662													19	25					1.96292e-10	2.30388e-10	1	0	T	37882099	G	T	37882099	2	4	119	1	0	0	0	0	0	0	0	1	9594	1103	39	3		3	MFNG	22	37882099	Silent	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	7915915	37882099	13422467	585	22971											
MPPED1	758	broad.mit.edu	37	chr22	43830954	43830954	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgtcatctctccctgcagGgtggacccggtgcctcacga	6	9	12	14	2	3	0	2	0	1	0	5	2	4	1	3	3	2	1	3	3	0	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:43830954G>T	ENST00000417669.1	+	3	669	c.224_splice	c.e3-1	p.M75_splice	MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000538182.1_Splice_Site_p.M108_splice|MPPED1_ENST00000542779.1_Splice_Site_p.M75_splice|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000443721.1_Splice_Site_p.M75_splice			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	75							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CTCCCTGCAGGGTGGACCCGG	0.647													33	107					1.26612e-14	1.60035e-14	1	0	T	43830954	G	T	43830954	5	4	119	1	0	0	0	0	0	0	1	0	9811	1246	43	4	231	4	MPPED1	22	43830954	Splice_Site	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	5948855	43830954	7473612	586	22972											
SMC1B	27127	broad.mit.edu	37	chr22	45758803	45758803	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttcactacctttctggaTagtttcttttaatgtgttga	8	20	6	7	0	4	1	1	1	3	0	4	2	4	2	1	1	1	2	1	1	3	8			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:45758803T>G	ENST00000357450.4	-	16	2523	c.2524A>C	c.(2524-2526)Atc>Ctc	p.I842L	SMC1B_ENST00000404354.3_Missense_Mutation_p.I842L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	842					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCTTTCTGGATAGTTTCTTTT	0.333													23	19					0	0	0	0	G	45758803	T	G	45758803	3	3	119	1	0	0	0	0	1	0	0	0	14870	1406	49	5	1223	5	SMC1B	22	45758803	Missense_Mutation	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	1927849	45758803	5545763	587	22973											
NHS	4810	broad.mit.edu	37	chrX	17743958	17743958	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccagcacaaattaagtGagaggggaaggtcacgtctg	12	6	13	10	1	2	1	1	1	1	1	2	3	2	2	2	3	1	1	2	3	3	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:17743958G>T	ENST00000380060.3	+	6	2007	c.1669G>T	c.(1669-1671)Gag>Tag	p.E557*	NHS_ENST00000398097.3_Nonsense_Mutation_p.E401*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	557						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAAATTAAGTGAGAGGGGAAG	0.577													44	20					4.67007e-22	6.44362e-22	1	0	T	17743958	G	T	17743958	4	4	119	1	0	0	0	0	0	1	0	0	10481	1291	45	2	1796	2	NHS	23	17743958	Nonsense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08		17743958	137526602	588	22974											
MAGEB18	286514	broad.mit.edu	37	chrX	26158077	26158077	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccagggctcatactgcTgccatggcaaatgcacgttc	9	8	11	13	1	1	0	1	0	0	0	2	0	1	0	2	2	5	6	2	2	2	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:26158077T>C	ENST00000325250.1	+	2	1162	c.975T>C	c.(973-975)gcT>gcC	p.A325A		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	325							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CTCATACTGCTGCCATGGCAA	0.512													8	2					0	0	0	0	C	26158077	T	C	26158077	2	2	119	1	0	0	0	0	0	0	0	1	9244	1567	55	5		5	MAGEB18	23	26158077	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	8414119	26158077	129112483	589	22975											
FAM47B	170062	broad.mit.edu	37	chrX	34962224	34962224	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtgtccagtctctgcccgGagcctaccaagaccggagcg	7	6	14	14	3	1	1	0	0	1	1	3	3	2	3	5	3	4	0	5	3	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:34962224G>T	ENST00000329357.5	+	1	1312	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	426										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCTCTGCCCGGAGCCTACCAA	0.547													39	20					1.58521e-26	2.23412e-26	1	0	T	34962224	G	T	34962224	4	4	119	1	0	0	0	0	0	1	0	0	5617	1175	41	2	1278	2	FAM47B	23	34962224	Nonsense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	8804147	34962224	120308336	590	22976											
SYTL5	94122	broad.mit.edu	37	chrX	37985955	37985955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagggtgtactcatgcttcGttccagcatgggaaaatgta	10	12	12	7	1	1	1	1	1	0	0	3	2	2	2	1	2	3	5	1	2	4	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:37985955G>A	ENST00000357972.5	+	17	2711	c.2165G>A	c.(2164-2166)cGt>cAt	p.R722H	SYTL5_ENST00000456733.2_Missense_Mutation_p.R744H|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.R722H			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	722					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CTCATGCTTCGTTCCAGCATG	0.512													11	12					0	0	0	0	A	37985955	G	A	37985955	3	1	119	1	0	0	0	0	1	0	0	0	15577	1145	40	1	2297	1	SYTL5	23	37985955	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	3023731	37985955	117284605	591	22977											
CCNB3	85417	broad.mit.edu	37	chrX	50052792	50052792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtgtaccacacaagaGatgatgtccatctgtccaga	16	8	8	9	0	1	3	0	1	1	2	3	4	3	3	3	0	1	1	3	0	4	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:50052792G>T	ENST00000376042.1	+	6	1921	c.1623G>T	c.(1621-1623)gaG>gaT	p.E541D	CCNB3_ENST00000276014.7_Missense_Mutation_p.E541D|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	541					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCACACAAGAGATGATGTCCA	0.373													17	6					0.00400662	0.00411476	1	0	T	50052792	G	T	50052792	3	4	119	1	0	0	0	0	1	0	0	0	2943	933	33	2	1637	2	CCNB3	23	50052792	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	12066837	50052792	105217768	592	22978											
CCNB3	85417	broad.mit.edu	37	chrX	50053214	50053214	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcattgcatgttaagcAtaccaacaaaagtgggtccc	13	12	7	9	0	1	0	1	0	0	0	2	0	2	0	2	1	4	3	2	1	5	5			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:50053214A>G	ENST00000376042.1	+	6	2343	c.2045A>G	c.(2044-2046)cAt>cGt	p.H682R	CCNB3_ENST00000276014.7_Missense_Mutation_p.H682R|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	682					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CATGTTAAGCATACCAACAAA	0.468													16	10					0	0	0	0	G	50053214	A	G	50053214	3	3	119	1	0	0	0	0	1	0	0	0	2943	217	8	5	2059	5	CCNB3	23	50053214	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	422	50053214	105217346	593	22979											
SHROOM4	57477	broad.mit.edu	37	chrX	50350814	50350814	+	Frame_Shift_Del	DEL	C	C	-																															acgaaagagcctgtacttctCccagttgggaggaggagggc																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:50350814delC	ENST00000376020.2	-	6	3353	c.3328delG	c.(3328-3330)agfs	p.E1110fs	SHROOM4_ENST00000460112.3_Frame_Shift_Del_p.E994fs|SHROOM4_ENST00000289292.7_Frame_Shift_Del_p.E1110fs	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1110					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTGTACTTCTCCCAGTTGGGA	0.562													26	10	---	---	---	---					-	50350814	C	-	50350814	7	5	119	1	0	1	0	1	0	0	0	0	14384	864	30	0	1169	0	SHROOM4	23	50350814	Frame_Shift_Del	DEL	C	TCGA-CN-A63U-01A-11D-A30E-08	297600	50350814	104919746	594	22980											
FAAH2	158584	broad.mit.edu	37	chrX	57337061	57337061	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaggctcatgctgtagAtcaaaagcttgcagagaagc	14	7	13	7	0	2	2	2	0	0	2	2	5	2	3	0	2	4	5	0	2	5	2			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:57337061A>T	ENST00000374900.4	+	3	431	c.311A>T	c.(310-312)gAt>gTt	p.D104V		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	104						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CATGCTGTAGATCAAAAGCTT	0.408										HNSCC(52;0.14)			18	10					0	0	0	0	T	57337061	A	T	57337061	3	4	119	1	0	0	0	0	1	0	0	0	5395	333	12	5	321	5	FAAH2	23	57337061	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	6986247	57337061	97933499	595	22981											
HEPH	9843	broad.mit.edu	37	chrX	65486287	65486287	+	Frame_Shift_Del	DEL	C	C	-																															ttttctccatttcagcagtgCcccccagagacattgaagaa																										TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:65486287delC	ENST00000519389.1	+	21	3591	c.3412delC	c.(3412-3414)ccfs	p.P1139fs	HEPH_ENST00000374727.3_Frame_Shift_Del_p.P1088fs|HEPH_ENST00000419594.1_Frame_Shift_Del_p.P896fs|HEPH_ENST00000441993.2_Frame_Shift_Del_p.P1087fs|HEPH_ENST00000343002.2_Frame_Shift_Del_p.P1085fs|HEPH_ENST00000336279.5_Frame_Shift_Del_p.P818fs			Q9BQS7	HEPH_HUMAN	hephaestin	1085					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTCAGCAGTGCCCCCCAGAGA	0.438													25	10	---	---	---	---					-	65486287	C	-	65486287	7	5	119	1	0	1	0	1	0	0	0	0	7104	739	26	0	3494	0	HEPH	23	65486287	Frame_Shift_Del	DEL	C	TCGA-CN-A63U-01A-11D-A30E-08	8149226	65486287	89784273	596	22982											
STARD8	9754	broad.mit.edu	37	chrX	67939133	67939133	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcagagtcgctggagatCaaccggcagtttgcaggcca	11	7	12	11	2	2	2	2	0	0	2	3	3	2	2	2	3	3	4	2	3	2	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:67939133C>A	ENST00000252336.6	+	6	1914	c.1542C>A	c.(1540-1542)atC>atA	p.I514I	STARD8_ENST00000374597.3_Silent_p.I514I|STARD8_ENST00000374599.3_Silent_p.I594I	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	514					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CGCTGGAGATCAACCGGCAGT	0.607													23	9					3.62473e-10	4.2201e-10	1	0	A	67939133	C	A	67939133	2	1	119	1	0	0	0	0	0	0	0	1	15353	816	29	2		2	STARD8	23	67939133	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	2452846	67939133	87331427	597	22983											
KLHL4	56062	broad.mit.edu	37	chrX	86773076	86773076	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccactctcgggacagaaaCggactgaagaaaagcaacag	17	3	11	10	2	1	3	0	1	1	2	2	5	1	5	1	2	4	1	1	2	5	0			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:86773076C>T	ENST00000373119.4	+	1	325	c.180C>T	c.(178-180)aaC>aaT	p.N60N	KLHL4_ENST00000373114.4_Silent_p.N60N	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	60						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGGACAGAAACGGACTGAAGA	0.547													27	12					0	0	0	0	T	86773076	C	T	86773076	2	4	119	1	0	0	0	0	0	0	0	1	8443	535	19	1		1	KLHL4	23	86773076	Silent	SNP	C	TCGA-CN-A63U-01A-11D-A30E-08	18833943	86773076	68497484	598	22984											
FGF13	2258	broad.mit.edu	37	chrX	137717804	137717804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctttgaatttgcactcagGtgtgaaaagttcctgcaaca	11	14	8	8	0	2	2	1	2	1	0	3	2	3	2	1	1	3	3	1	1	4	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:137717804G>T	ENST00000315930.6	-	4	1076	c.415C>A	c.(415-417)Cct>Act	p.P139T	FGF13_ENST00000305414.4_Missense_Mutation_p.P86T|FGF13_ENST00000370603.3_Missense_Mutation_p.P149T|FGF13_ENST00000541469.1_Missense_Mutation_p.P93T|FGF13_ENST00000441825.2_Missense_Mutation_p.P120T	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	139					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGCACTCAGGTGTGAAAAGT	0.363													21	14					0.000175454	0.000185187	1	0	T	137717804	G	T	137717804	3	4	119	1	0	0	0	0	1	0	0	0	5887	1261	44	4	330	4	FGF13	23	137717804	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	50944728	137717804	17552756	599	22985											
MAGEC3	139081	broad.mit.edu	37	chrX	140984864	140984864	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgaagaggaggatacagcTacttggcatgccttgccaga	12	8	13	8	0	0	3	0	1	0	2	0	5	0	5	2	3	5	2	2	3	3	4			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:140984864T>C	ENST00000298296.1	+	7	1320	c.1320T>C	c.(1318-1320)gcT>gcC	p.A440A	MAGEC3_ENST00000443323.2_Silent_p.A62A|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000536088.1_Silent_p.A142A|MAGEC3_ENST00000409007.1_Silent_p.A142A|MAGEC3_ENST00000544766.1_Silent_p.A142A	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	440										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGGATACAGCTACTTGGCATG	0.517													20	18					0	0	0	0	C	140984864	T	C	140984864	2	2	119	1	0	0	0	0	0	0	0	1	9251	1509	53	5		5	MAGEC3	23	140984864	Silent	SNP	T	TCGA-CN-A63U-01A-11D-A30E-08	3267060	140984864	14285696	600	22986											
MAGEC1	9947	broad.mit.edu	37	chrX	140995990	140995990	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctatcacaaaggcagagAtgctgacgaatgtcatcagc	14	7	10	10	1	3	2	3	1	0	1	3	4	3	2	1	1	3	2	1	1	3	1			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:140995990A>G	ENST00000285879.4	+	4	3086	c.2800A>G	c.(2800-2802)Atg>Gtg	p.M934V	MAGEC1_ENST00000406005.2_Start_Codon_SNP_p.M1V	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	934	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGGCAGAGATGCTGACGAA	0.473										HNSCC(15;0.026)			117	45					0	0	0	0	G	140995990	A	G	140995990	3	3	119	1	0	0	0	0	1	0	0	0	9249	333	12	5	2806	5	MAGEC1	23	140995990	Missense_Mutation	SNP	A	TCGA-CN-A63U-01A-11D-A30E-08	11126	140995990	14274570	601	22987											
MAGEA10	4109	broad.mit.edu	37	chrX	151303506	151303506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacaaaggagtggccagtgGgatccacttcctttacatca	11	9	11	10	0	1	0	1	0	0	0	3	3	3	3	3	4	1	0	3	4	2	3			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:151303506G>A	ENST00000370323.4	-	4	903	c.587C>T	c.(586-588)cCc>cTc	p.P196L	MAGEA10_ENST00000244096.3_Missense_Mutation_p.P196L|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	196	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCCAGTGGGATCCACTTC	0.488													38	14					0	0	0	0	A	151303506	G	A	151303506	3	1	119	1	0	0	0	0	1	0	0	0	9229	1232	43	4	526	4	MAGEA10	23	151303506	Missense_Mutation	SNP	G	TCGA-CN-A63U-01A-11D-A30E-08	10307516	151303506	3967054	602	22988											
TP73	7161	broad.mit.edu	37	chr1	3599708	3599708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacggattccagcatggaCgtcttccacctggagggcat	9	8	13	11	2	1	0	0	0	1	0	3	4	3	4	3	5	2	2	3	5	1	2			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:3599708C>T	ENST00000378295.4	+	3	305	c.150C>T	c.(148-150)gaC>gaT	p.D50D	TP73_ENST00000604074.1_Silent_p.D50D|TP73_ENST00000604479.1_Silent_p.D50D|TP73_ENST00000357733.3_Silent_p.D50D|TP73_ENST00000346387.4_Silent_p.D50D|TP73_ENST00000354437.4_Silent_p.D50D|TP73_ENST00000603362.1_Silent_p.D50D	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	50	Asp/Glu-rich (acidic).				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCAGCATGGACGTCTTCCACC	0.602													22	130					0	0	0	0	T	3599708	C	T	3599708	2	4	120	1	0	0	0	0	0	0	0	1	16488	535	19	1		1	TP73	1	3599708	Silent	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08		3599708	245650913	1	22989											
AKR7A3	22977	broad.mit.edu	37	chr1	19612764	19612764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggtagaagaggtccactCggggacactgcagccgcttc	9	6	14	12	2	0	2	0	0	0	2	3	3	1	3	2	4	2	4	2	4	2	2			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:19612764C>T	ENST00000361640.4	-	2	857	c.317G>A	c.(316-318)cGa>cAa	p.R106Q		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	106					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	p.R106Q(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGTCCACTCGGGGACACTG	0.592													26	129					0	0	0	0	T	19612764	C	T	19612764	3	4	120	1	0	0	0	0	1	0	0	0	476	884	31	1	702	1	AKR7A3	1	19612764	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	16013056	19612764	229637857	2	22990											
SFN	2810	broad.mit.edu	37	chr1	27190360	27190363	+	Frame_Shift_Del	DEL	CATG	CATG	-																															tacaaagacagcaccctcatCatgcagctgctgcgagacaa																										TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:27190360_27190363delCATG	ENST00000339276.4	+	1	728_731	c.657_660delCATG	c.(655-660)atfs	p.IM219fs		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	219					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GCACCCTCATCATGCAGCTGCTGC	0.642													30	166	---	---	---	---					-	27190363	CATG	-	27190360	7	5	120	1	0	1	0	1	0	0	0	0	14246	816	29	0	659	0	SFN	1	27190360	Frame_Shift_Del	DEL	CATG	TCGA-CN-A63V-01A-11D-A28R-08	7577596	27190360	222060261	3	22991											
PTP4A2	8073	broad.mit.edu	37	chr1	32377362	32377362	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcacgaaatttggttttTaacaggtttaaccaatcatc	12	16	5	8	1	3	0	2	0	1	0	4	1	3	0	1	2	2	2	1	2	4	7			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:32377362T>A	ENST00000344035.6	-	4	1248	c.255A>T	c.(253-255)ttA>ttT	p.L85F	PTP4A2_ENST00000470404.1_Intron|PTP4A2_ENST00000356536.3_Intron|RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000602725.1_Missense_Mutation_p.L85F|PTP4A2_ENST00000457805.2_Missense_Mutation_p.L54F	NM_080391.3	NP_536316.1	Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	85	Tyrosine-protein phosphatase.					early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				ATTTGGTTTTTAACAGGTTTA	0.383													14	73					0	0	0	0	A	32377362	T	A	32377362	3	1	120	1	0	0	0	0	1	0	0	0	12851	1751	61	5	260	5	PTP4A2	1	32377362	Missense_Mutation	SNP	T	TCGA-CN-A63V-01A-11D-A28R-08	5187002	32377362	216873259	4	22992											
SLFNL1	200172	broad.mit.edu	37	chr1	41483450	41483450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcacggtggctgcagcGgatgccctgcaccaggccgc	5	6	14	16	4	1	0	1	0	0	0	2	1	1	1	3	4	4	3	3	4	0	0			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:41483450G>A	ENST00000359345.1	-	2	3390	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	SLFNL1_ENST00000397197.2_Missense_Mutation_p.R272C|SLFNL1_ENST00000439569.2_Missense_Mutation_p.R272C|SLFNL1_ENST00000302946.8_Missense_Mutation_p.R272C|SLFNL1_ENST00000372613.2_Missense_Mutation_p.R272C|SLFNL1_ENST00000372611.1_Missense_Mutation_p.R213C	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	272							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TGGCTGCAGCGGATGCCCTGC	0.647													14	100					0	0	0	0	A	41483450	G	A	41483450	3	1	120	1	0	0	0	0	1	0	0	0	14826	1116	39	1	421	1	SLFNL1	1	41483450	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	9106088	41483450	207767171	5	22993											
LEPR	3953	broad.mit.edu	37	chr1	66067341	66067341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaacatgaatgccatcatCgctatgctgaattatatgtg	13	13	8	7	1	1	3	1	3	0	0	2	3	1	3	1	0	3	2	1	0	6	3			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:66067341C>T	ENST00000349533.6	+	9	1446	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.R421C|LEPR_ENST00000371059.3_Missense_Mutation_p.R421C|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.R421C|LEPR_ENST00000344610.8_Missense_Mutation_p.R421C	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	421	Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATGCCATCATCGCTATGCTGA	0.358													5	26					0	0	0	0	T	66067341	C	T	66067341	3	4	120	1	0	0	0	0	1	0	0	0	8781	884	31	1	1287	1	LEPR	1	66067341	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	24583891	66067341	183183280	6	22994											
EPHX4	253152	broad.mit.edu	37	chr1	92528795	92528795	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccaacctgacatagtgaaCaaattgatatggacatttct	15	11	7	8	0	1	3	0	3	1	0	1	5	1	4	2	1	2	0	2	1	5	4			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:92528795C>T	ENST00000370383.4	+	7	1139	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	347						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ACATAGTGAACAAATTGATAT	0.313													7	31					0	0	0	0	T	92528795	C	T	92528795	2	4	120	1	0	0	0	0	0	0	0	1	5220	477	17	4		4	EPHX4	1	92528795	Silent	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	26461454	92528795	156721826	7	22995											
CSF1	1435	broad.mit.edu	37	chr1	110466000	110466000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcagtgccaagcagcggCcacccaggagcacctgccag	10	2	13	16	1	0	0	0	0	0	0	0	1	0	1	5	3	5	3	5	3	1	0			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:110466000C>T	ENST00000329608.6	+	6	1148	c.757C>T	c.(757-759)Cca>Tca	p.P253S	CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Missense_Mutation_p.P253S|CSF1_ENST00000369802.3_Missense_Mutation_p.P253S|CSF1_ENST00000344188.5_Missense_Mutation_p.P253S	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	253					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAAGCAGCGGCCACCCAGGAG	0.652											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	82					0	0	0	0	T	110466000	C	T	110466000	3	4	120	1	0	0	0	0	1	0	0	0	3963	739	26	4	779	4	CSF1	1	110466000	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	17937205	110466000	138784621	8	22996											
KCNA2	3737	broad.mit.edu	37	chr1	111146157	111146157	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctctgtctcccggtggtaGaagtagttgaaattggacac	9	11	11	10	1	2	2	0	1	2	1	3	3	2	3	2	3	0	3	2	3	4	4			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:111146157G>A	ENST00000485317.1	-	3	1921	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	KCNA2_ENST00000316361.4_Silent_p.F416F|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000440270.1_Silent_p.F416F			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	416						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CCCGGTGGTAGAAGTAGTTGA	0.488													18	91					0	0	0	0	A	111146157	G	A	111146157	2	1	120	1	0	0	0	0	0	0	0	1	8056	933	33	2		2	KCNA2	1	111146157	Silent	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	680157	111146157	138104464	9	22997											
ASH1L	55870	broad.mit.edu	37	chr1	155450764	155450764	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtagtttttgaatcatttaCctctttatcaatccctttac	9	19	4	9	0	3	1	2	1	1	0	4	1	4	1	2	1	2	2	2	1	6	9			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:155450764C>A	ENST00000368346.3	-	3	2536	c.1897G>T	c.(1897-1899)Gta>Tta	p.V633L	ASH1L_ENST00000392403.3_Missense_Mutation_p.V633L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	633					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAATCATTTACCTCTTTATCA	0.353													6	56					0.00116845	0.00121925	1	0	A	155450764	C	A	155450764	3	1	120	1	0	0	0	0	1	0	0	0	1045	507	18	4	7101	4	ASH1L	1	155450764	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	44304607	155450764	93799857	10	22998											
SLAMF1	6504	broad.mit.edu	37	chr1	160607290	160607290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttcccaactgccggaGaatctttgggcagttcatca	8	13	9	11	1	3	1	2	0	1	1	4	2	4	1	2	2	3	3	2	2	2	4			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:160607290G>T	ENST00000302035.6	-	2	455	c.106C>A	c.(106-108)Ctc>Atc	p.L36I	SLAMF1_ENST00000494463.1_5'UTR|SLAMF1_ENST00000235739.5_Missense_Mutation_p.L36I|SLAMF1_ENST00000355199.3_Missense_Mutation_p.L36I|SLAMF1_ENST00000538290.1_Missense_Mutation_p.L36I	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	36					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AACTGCCGGAGAATCTTTGGG	0.473													4	36					0.150653	0.151919	1	0	T	160607290	G	T	160607290	3	4	120	1	0	0	0	0	1	0	0	0	14455	942	33	2	925	2	SLAMF1	1	160607290	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	5156526	160607290	88643331	11	22999											
PPOX	5498	broad.mit.edu	37	chr1	161138364	161138364	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggcctgctgctgggggCaggtgaggggggattgattc	5	9	20	7	0	0	2	0	2	0	0	1	3	0	3	1	7	2	3	1	7	0	2			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:161138364C>A	ENST00000367999.4	+	6	880	c.614C>A	c.(613-615)gCa>gAa	p.A205E	PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.A205E|PPOX_ENST00000495483.1_3'UTR	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	205					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTGCTGGGGGCAGGTGAGGGG	0.502													11	63					3.07112e-06	3.38105e-06	1	0	A	161138364	C	A	161138364	3	1	120	1	0	0	0	0	1	0	0	0	12424	710	25	4	632	4	PPOX	1	161138364	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	531074	161138364	88112257	12	23000											
RC3H1	149041	broad.mit.edu	37	chr1	173952657	173952657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatgagctctgtaactgttCgttcacctaaagatcgagct	11	12	9	9	2	2	2	1	1	1	1	4	4	2	2	1	0	3	5	1	0	4	4			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:173952657C>T	ENST00000367696.2	-	4	842	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	RC3H1_ENST00000258349.4_Missense_Mutation_p.R164Q|RC3H1_ENST00000367694.2_Missense_Mutation_p.R164Q			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	164					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TGTAACTGTTCGTTCACCTAA	0.512													13	67					0	0	0	0	T	173952657	C	T	173952657	3	4	120	1	0	0	0	0	1	0	0	0	13248	884	31	1	2978	1	RC3H1	1	173952657	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	12814293	173952657	75297964	13	23001											
PAPPA2	60676	broad.mit.edu	37	chr1	176760546	176760546	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaagttgtgtgagaatctgCaaggagaatgcccaccaccc	12	9	10	10	0	1	2	0	1	1	2	1	4	1	2	3	1	2	2	3	1	4	2			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr1:176760546C>T	ENST00000367662.3	+	19	6112	c.4948C>T	c.(4948-4950)Caa>Taa	p.Q1650*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1650					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAGAATCTGCAAGGAGAATG	0.423													5	62					0	0	0	0	T	176760546	C	T	176760546	4	4	120	1	0	0	0	0	0	1	0	0	11504	711	25	4	5071	4	PAPPA2	1	176760546	Nonsense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	2807889	176760546	72490075	14	23002											
MYT1L	23040	broad.mit.edu	37	chr2	1843078	1843078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaaggggcacccggaggCgctgcgatgggacgcgtact	7	4	17	13	6	0	0	0	0	0	0	0	3	0	2	2	5	2	3	2	5	2	1			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr2:1843078C>T	ENST00000399161.2	-	21	3670	c.2923G>A	c.(2923-2925)Gcc>Acc	p.A975T	MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000428368.2_Missense_Mutation_p.A973T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	975					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CACCCGGAGGCGCTGCGATGG	0.632													17	98					0	0	0	0	T	1843078	C	T	1843078	3	4	120	1	0	0	0	0	1	0	0	0	10177	768	27	1	657	1	MYT1L	2	1843078	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08		1843078	241356295	15	23003											
CTNNA2	1496	broad.mit.edu	37	chr2	79971609	79971609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgcctctgtagagcaaGccactcagaatttcctggaa	11	10	9	11	0	2	2	1	0	1	2	3	3	3	3	3	1	4	3	3	1	5	3			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr2:79971609G>A	ENST00000466387.1	+	7	923	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	CTNNA2_ENST00000402739.4_Missense_Mutation_p.A67T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A101T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A67T			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	67					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGTAGAGCAAGCCACTCAGAA	0.468													5	49					0	0	0	0	A	79971609	G	A	79971609	3	1	120	1	0	0	0	0	1	0	0	0	4045	971	34	4	205	4	CTNNA2	2	79971609	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	78128531	79971609	163227764	16	23004											
PPIG	9360	broad.mit.edu	37	chr2	170489726	170489726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacttttagttactagatCtggcaggaaaattaaaggaa	16	11	9	5	1	1	1	0	0	1	1	1	4	1	3	0	3	1	2	0	3	8	5			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr2:170489726C>A	ENST00000260970.3	+	12	1206	c.986C>A	c.(985-987)tCt>tAt	p.S329Y	PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Missense_Mutation_p.S329Y|PPIG_ENST00000462903.1_Missense_Mutation_p.S329Y|PPIG_ENST00000409714.3_Missense_Mutation_p.S314Y	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	329					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GTTACTAGATCTGGCAGGAAA	0.373													10	37					1.58986e-06	1.76652e-06	1	0	A	170489726	C	A	170489726	3	1	120	1	0	0	0	0	1	0	0	0	12400	913	32	2	1024	2	PPIG	2	170489726	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	90518117	170489726	72709647	17	23005											
TTN	7273	broad.mit.edu	37	chr2	179528398	179528398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttaggaggagccactggcGctttcttttcaggaactact	8	13	10	10	1	2	0	1	0	1	0	2	3	2	3	1	4	3	1	1	4	3	6			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr2:179528398G>A	ENST00000589042.1	-	171	36712	c.36488C>T	c.(36487-36489)gCg>gTg	p.A12163V	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10312	Ig-like 81.						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)			AGCCACTGGCGCTTTCTTTTC	0.388													35	244					0	0	0	0	A	179528398	G	A	179528398	3	1	120	1	0	0	0	0	1	0	0	0	16831	1102	38	1		1	TTN	2	179528398	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	9038672	179528398	63670975	18	23006											
TTN	7273	broad.mit.edu	37	chr2	179605415	179605415	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacttgggaagattttcTcggtatctgatagaactgcc	9	13	11	8	1	2	3	0	1	2	2	3	4	2	4	1	3	2	2	1	3	4	5			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr2:179605415T>C	ENST00000589042.1	-	48	12769	c.12545A>G	c.(12544-12546)gAg>gGg	p.E4182G	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4011G|TTN_ENST00000591111.1_Missense_Mutation_p.E3865G|TTN_ENST00000460472.2_Missense_Mutation_p.E3819G|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.E3944G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3865							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)			GAAGATTTTCTCGGTATCTGA	0.413													21	69					0	0	0	0	C	179605415	T	C	179605415	3	2	120	1	0	0	0	0	1	0	0	0	16831	1551	54	5	92244	5	TTN	2	179605415	Missense_Mutation	SNP	T	TCGA-CN-A63V-01A-11D-A28R-08	77017	179605415	63593958	19	23007											
HDAC4	9759	broad.mit.edu	37	chr2	240003803	240003803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataccccacctacctcatCaggagccccgctgcctggga	9	7	8	17	1	2	0	2	0	0	0	2	2	2	2	7	2	4	1	7	2	3	3			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr2:240003803C>A	ENST00000345617.3	-	21	3423	c.2632G>T	c.(2632-2634)Gat>Tat	p.D878Y	HDAC4_ENST00000543185.1_Missense_Mutation_p.D462Y	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	878	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCTACCTCATCAGGAGCCCCG	0.657													24	134					4.43304e-23	5.21534e-23	1	0	A	240003803	C	A	240003803	3	1	120	1	0	0	0	0	1	0	0	0	7059	826	29	2	650	2	HDAC4	2	240003803	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	60398388	240003803	3195570	20	23008											
ZNF660	285349	broad.mit.edu	37	chr3	44636019	44636019	+	Frame_Shift_Del	DEL	G	G	-																															cctatacatgcagtgaatgtGggaaatctttcagtggaaag																										TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr3:44636019delG	ENST00000322734.2	+	3	667	c.334delG	c.(334-336)ggfs	p.G112fs	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CAGTGAATGTGGGAAATCTTT	0.438													19	105	---	---	---	---					-	44636019	G	-	44636019	7	5	120	1	0	1	0	1	0	0	0	0	18165	1348	47	0	336	0	ZNF660	3	44636019	Frame_Shift_Del	DEL	G	TCGA-CN-A63V-01A-11D-A28R-08		44636019	153386411	21	23009											
SPATA16	83893	broad.mit.edu	37	chr3	172835185	172835185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttctttaaggggatgtgagGcagaggcatggtgattaact	10	12	15	4	0	1	3	0	2	1	1	1	4	1	4	0	5	1	3	0	5	2	4			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr3:172835185G>T	ENST00000351008.3	-	2	520	c.337C>A	c.(337-339)Cct>Act	p.P113T		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	113					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GGGATGTGAGGCAGAGGCATG	0.413													10	69					2.17888e-05	2.35554e-05	1	0	T	172835185	G	T	172835185	3	4	120	1	0	0	0	0	1	0	0	0	15091	1203	42	4	1412	4	SPATA16	3	172835185	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	128199166	172835185	25187245	22	23010											
FXR1	8087	broad.mit.edu	37	chr3	180688142	180688142	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttcagttaatgaaaatggGctaggtatgtaagcacttag	13	12	11	5	0	1	1	1	1	0	0	1	1	1	1	0	2	1	6	0	2	7	6			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr3:180688142G>T	ENST00000357559.4	+	15	1983	c.1599G>T	c.(1597-1599)ggG>ggT	p.G533G	FXR1_ENST00000491062.1_Silent_p.G484G|FXR1_ENST00000468861.1_Silent_p.G448G|FXR1_ENST00000480918.1_Silent_p.G520G|FXR1_ENST00000445140.2_Silent_p.G533G|FXR1_ENST00000305586.7_Silent_p.G448G	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	533					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ATGAAAATGGGCTAGGTATGT	0.323													7	71					0.00307968	0.00313188	1	0	T	180688142	G	T	180688142	2	4	120	1	0	0	0	0	0	0	0	1	6163	1190	42	4		4	FXR1	3	180688142	Silent	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	7852957	180688142	17334288	23	23011											
WDR1	9948	broad.mit.edu	37	chr4	10083028	10083028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccccggggccgacggctaCgcactttggctgaacgtcca	6	7	12	16	5	0	1	0	1	0	0	2	2	2	1	4	4	2	3	4	4	2	2			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr4:10083028C>T	ENST00000382452.2	-	11	1519	c.1237G>A	c.(1237-1239)Gta>Ata	p.V413I	WDR1_ENST00000502702.1_Missense_Mutation_p.V273I|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Missense_Mutation_p.V413I|WDR1_ENST00000382451.2_Missense_Mutation_p.V273I	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	413					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCGACGGCTACGCACTTTGGC	0.572													13	79					0	0	0	0	T	10083028	C	T	10083028	3	4	120	1	0	0	0	0	1	0	0	0	17368	536	19	1	603	1	WDR1	4	10083028	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08		10083028	181071248	24	23012											
WDR19	57728	broad.mit.edu	37	chr4	39245929	39245929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataagaatgggagacatacGtcgaggggttaaccaagccc	14	6	12	9	2	0	2	0	0	0	2	1	4	0	2	2	3	3	1	2	3	5	3			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr4:39245929G>A	ENST00000399820.3	+	22	2637	c.2483G>A	c.(2482-2484)cGt>cAt	p.R828H	WDR19_ENST00000288634.7_Missense_Mutation_p.R668H	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	828					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						GGAGACATACGTCGAGGGGTT	0.468													12	104					0	0	0	0	A	39245929	G	A	39245929	3	1	120	1	0	0	0	0	1	0	0	0	17375	1145	40	1	2569	1	WDR19	4	39245929	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	29162901	39245929	151908347	25	23013											
GABRB1	2560	broad.mit.edu	37	chr4	47034444	47034444	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccccggcagggccccccgtCgacgttgggatgcggatcga	5	6	15	15	6	0	0	0	0	0	0	3	4	1	2	5	4	1	2	5	4	0	1			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr4:47034444C>T	ENST00000295454.3	+	3	475	c.183C>T	c.(181-183)gtC>gtT	p.V61V	GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_Intron	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	61					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGCCCCCCGTCGACGTTGGGA	0.627													46	238					0	0	0	0	T	47034444	C	T	47034444	2	4	120	1	0	0	0	0	0	0	0	1	6214	871	31	1		1	GABRB1	4	47034444	Silent	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	7788515	47034444	144119832	26	23014											
PCDH10	57575	broad.mit.edu	37	chr4	134071698	134071698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggaaatctctgagagcGccacgccaggcactcgcttc	8	7	12	14	4	1	1	0	1	1	1	4	3	1	2	2	3	1	2	2	3	1	1			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr4:134071698G>A	ENST00000264360.4	+	1	1229	c.403G>A	c.(403-405)Gcc>Acc	p.A135T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	135	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCTGAGAGCGCCACGCCAGG	0.607													30	134					0	0	0	0	A	134071698	G	A	134071698	3	1	120	1	0	0	0	0	1	0	0	0	11578	1087	38	1	405	1	PCDH10	4	134071698	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	87037254	134071698	57082578	27	23015											
DDX60L	91351	broad.mit.edu	37	chr4	169315637	169315637	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaataagcccttttacaaaGagtatctcaacaaactcttt	15	13	3	10	0	2	1	1	0	2	1	3	1	2	1	1	0	4	1	1	0	7	6			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr4:169315637G>A	ENST00000511577.1	-	28	4036	c.3789C>T	c.(3787-3789)ctC>ctT	p.L1263L	DDX60L_ENST00000260184.7_Silent_p.L1263L|DDX60L_ENST00000505890.1_Silent_p.L1264L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1263	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTTTTACAAAGAGTATCTCAA	0.323													4	28					0	0	0	0	A	169315637	G	A	169315637	2	1	120	1	0	0	0	0	0	0	0	1	4411	929	33	2		2	DDX60L	4	169315637	Silent	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	35243939	169315637	21838639	28	23016											
C5orf34	375444	broad.mit.edu	37	chr5	43506091	43506091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtgtatacacatgtgtGctttgtaccaggcgaaggca	10	11	11	9	1	0	0	0	0	0	0	0	1	0	0	2	2	3	4	2	2	4	4			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr5:43506091G>A	ENST00000306862.2	-	4	1066	c.691C>T	c.(691-693)Cac>Tac	p.H231Y	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	231										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					ACACATGTGTGCTTTGTACCA	0.423													15	128					0	0	0	0	A	43506091	G	A	43506091	3	1	120	1	0	0	0	0	1	0	0	0	2314	1319	46	4	1265	4	C5orf34	5	43506091	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08		43506091	137409169	29	23017											
GRAMD3	65983	broad.mit.edu	37	chr5	125813462	125813462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaacgccctgatcataGcaacagtcacagacagggtg	13	6	10	12	1	2	2	2	1	0	1	2	2	2	2	2	1	4	1	2	1	3	1			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr5:125813462G>T	ENST00000285689.3	+	6	1026	c.565G>T	c.(565-567)Gca>Tca	p.A189S	GRAMD3_ENST00000511134.1_Missense_Mutation_p.A173S|GRAMD3_ENST00000513040.1_Missense_Mutation_p.A204S|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000543198.1_Missense_Mutation_p.A166S|GRAMD3_ENST00000502348.1_Missense_Mutation_p.A80S|GRAMD3_ENST00000544396.1_Missense_Mutation_p.A85S|GRAMD3_ENST00000542322.1_Missense_Mutation_p.A197S|GRAMD3_ENST00000515200.1_Missense_Mutation_p.A166S	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	189										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		CCTGATCATAGCAACAGTCAC	0.493													15	89					9.16793e-09	1.03788e-08	1	0	T	125813462	G	T	125813462	3	4	120	1	0	0	0	0	1	0	0	0	6801	971	34	4	801	4	GRAMD3	5	125813462	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	82307371	125813462	55101798	30	23018											
ACSL6	23305	broad.mit.edu	37	chr5	131329909	131329909	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatcctcaggatctcctGtgtctgcatcttctccagaa	8	13	7	13	0	5	1	1	0	4	1	8	2	6	2	3	1	1	2	3	1	2	2			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr5:131329909G>A	ENST00000379264.2	-	2	193	c.85C>T	c.(85-87)Cag>Tag	p.Q29*	ACSL6_ENST00000296869.4_Nonsense_Mutation_p.Q29*|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000379244.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000379272.2_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000543479.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000431707.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000379255.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000379249.3_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000379246.1_Nonsense_Mutation_p.Q15*|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000357096.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000379240.1_Nonsense_Mutation_p.Q4*	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	4					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGATCTCCTGTGTCTGCATC	0.557													6	23					0	0	0	0	A	131329909	G	A	131329909	4	1	120	1	0	0	0	0	0	1	0	0	181	1386	48	4	2245	4	ACSL6	5	131329909	Nonsense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	5516447	131329909	49585351	31	23019											
CSF1R	1436	broad.mit.edu	37	chr5	149459795	149459795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcacacgcaccagcgagaCgcctgcttccagcaccgggt	9	4	11	17	5	0	1	0	0	0	1	1	2	1	1	4	1	3	4	4	1	0	1			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr5:149459795C>T	ENST00000286301.3	-	4	703	c.412G>A	c.(412-414)Gtc>Atc	p.V138I	CSF1R_ENST00000543093.1_Missense_Mutation_p.V138I	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	138	Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ACCAGCGAGACGCCTGCTTCC	0.637													10	61					0	0	0	0	T	149459795	C	T	149459795	3	4	120	1	0	0	0	0	1	0	0	0	3964	536	19	1	2582	1	CSF1R	5	149459795	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	18129886	149459795	31455465	32	23020											
ADAMTS2	9509	broad.mit.edu	37	chr5	178562959	178562959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcgtccttgtaggagcagCgcgtcccgtcatgcaccatg	7	8	13	13	4	1	0	1	0	0	0	3	1	3	1	3	2	3	3	3	2	1	2	rs144554943		TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr5:178562959C>T	ENST00000251582.7	-	13	2137	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	679	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTAGGAGCAGCGCGTCCCGTC	0.637													16	111					0	0	0	0	T	178562959	C	T	178562959	3	4	120	1	0	0	0	0	1	0	0	0	265	768	27	1	1639	1	ADAMTS2	5	178562959	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	29103164	178562959	2352301	33	23021											
HIST1H3H	8357	broad.mit.edu	37	chr6	27777869	27777869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatggcgcgtacgaagcaGactgctcgcaagtccaccgg	9	5	14	13	5	0	1	0	0	0	1	2	2	1	1	2	3	3	5	2	3	3	1			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr6:27777869G>T	ENST00000369163.2	+	1	28	c.18G>T	c.(16-18)caG>caT	p.Q6H		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	6					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						GTACGAAGCAGACTGCTCGCA	0.582													13	106					9.31168e-06	1.01582e-05	1	0	T	27777869	G	T	27777869	3	4	120	1	0	0	0	0	1	0	0	0	7212	933	33	2	20	2	HIST1H3H	6	27777869	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08		27777869	143337198	34	23022											
DNAH8	1769	broad.mit.edu	37	chr6	38775449	38775449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcttcaaaaagctacaCggttatctctggacacaatg	14	10	7	10	1	3	0	1	0	2	0	4	1	3	1	0	2	2	2	0	2	5	3			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr6:38775449C>T	ENST00000359357.3	+	22	2817	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1072W|DNAH8_ENST00000441566.1_Missense_Mutation_p.R855W					dynein, axonemal, heavy chain 8									p.R855W(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAAGCTACACGGTTATCTCT	0.328													8	62					0	0	0	0	T	38775449	C	T	38775449	3	4	120	1	0	0	0	0	1	0	0	0	4643	527	19	1	2641	1	DNAH8	6	38775449	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	10997580	38775449	132339618	35	23023											
PCLO	27445	broad.mit.edu	37	chr7	82764239	82764239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtgggccagggggtgttGgtgacccttttggcattggc	3	12	18	8	1	0	1	0	1	0	0	1	1	0	1	2	6	0	2	2	6	0	4			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr7:82764239G>A	ENST00000423517.2	-	3	2964	c.2627C>T	c.(2626-2628)cCa>cTa	p.P876L	PCLO_ENST00000333891.8_Missense_Mutation_p.P876L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	822	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGGGTGTTGGTGACCCTTT	0.517													52	270					0	0	0	0	A	82764239	G	A	82764239	3	1	120	1	0	0	0	0	1	0	0	0	11654	1348	47	4	12910	4	PCLO	7	82764239	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08		82764239	76374424	36	23024											
MUC17	140453	broad.mit.edu	37	chr7	100676343	100676343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccacttctagtgaagccaGttcatcttctacaactcctg	10	12	6	13	0	4	1	1	1	3	0	5	2	5	1	3	0	3	1	3	0	4	5			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr7:100676343G>A	ENST00000306151.4	+	3	1710	c.1646G>A	c.(1645-1647)aGt>aAt	p.S549N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	549	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTGAAGCCAGTTCATCTTCT	0.512													205	530					0	0	0	0	A	100676343	G	A	100676343	3	1	120	1	0	0	0	0	1	0	0	0	10044	1029	36	4	1656	4	MUC17	7	100676343	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	17912104	100676343	58462320	37	23025											
CUX1	1523	broad.mit.edu	37	chr7	101892219	101892219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgggcgcccgggactcgcGcgacaaccccctgcgcaaga	7	2	14	18	8	0	1	0	0	0	1	1	3	0	2	3	2	2	1	3	2	2	0			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr7:101892219G>A	ENST00000360264.3	+	24	4468	c.4448G>A	c.(4447-4449)cGc>cAc	p.R1483H	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R1314H|CUX1_ENST00000550008.2_Missense_Mutation_p.R1416H|CUX1_ENST00000549414.2_Missense_Mutation_p.R1450H|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R1370H|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.R1472H|CUX1_ENST00000292538.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1472					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CGGGACTCGCGCGACAACCCC	0.697													3	17					0	0	0	0	A	101892219	G	A	101892219	3	1	120	1	0	0	0	0	1	0	0	0	4096	1087	38	1	4576	1	CUX1	7	101892219	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	1215876	101892219	57246444	38	23026											
LRRC17	10234	broad.mit.edu	37	chr7	102580025	102580025	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaatggcattgaattcatCgatcctggtaagttcccctg	10	12	9	10	1	1	1	1	1	0	0	4	2	3	1	3	2	1	4	3	2	3	4			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr7:102580025C>T	ENST00000249377.4	+	3	1202	c.921C>T	c.(919-921)atC>atT	p.I307I	LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000339431.4_Silent_p.I307I|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	307					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TTGAATTCATCGATCCTGGTA	0.373													14	104					0	0	0	0	T	102580025	C	T	102580025	2	4	120	1	0	0	0	0	0	0	0	1	9037	874	31	1		1	LRRC17	7	102580025	Silent	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	687806	102580025	56558638	39	23027											
ZNF282	8427	broad.mit.edu	37	chr7	148907754	148907754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtgtgtccggggtcagCggggcctggaggaaagagcc	6	6	18	11	2	1	1	1	0	0	1	2	3	2	3	4	6	2	0	4	6	1	0			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr7:148907754C>T	ENST00000262085.3	+	5	1015	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	ZNF282_ENST00000479907.1_Missense_Mutation_p.R304W	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	304					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CCGGGGTCAGCGGGGCCTGGA	0.642													5	21					0	0	0	0	T	148907754	C	T	148907754	3	4	120	1	0	0	0	0	1	0	0	0	17914	759	27	1	928	1	ZNF282	7	148907754	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	46327729	148907754	10230909	40	23028											
GALNT11	63917	broad.mit.edu	37	chr7	151800369	151800369	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgatagtgactttggtaagGaatgctgcacctggtaacat	12	12	11	6	0	0	2	0	2	0	0	0	3	0	3	1	3	3	4	1	3	4	4			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr7:151800369G>T	ENST00000415421.1	+	5	947	c.592G>T	c.(592-594)Gaa>Taa	p.E198*	GALNT11_ENST00000434507.1_Intron|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000320311.2_Intron|GALNT11_ENST00000430044.2_Intron			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	0	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CTTTGGTAAGGAATGCTGCAC	0.498													5	30					0.217242	0.217242	1	0	T	151800369	G	T	151800369	4	4	120	1	0	0	0	0	0	1	0	0	6258	1189	41	2		2	GALNT11	7	151800369	Nonsense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	2892615	151800369	7338294	41	23029											
CSMD1	64478	broad.mit.edu	37	chr8	3267060	3267060	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgagtgtatctccatggagGaaactgctgcccgtccgctt	7	11	12	11	2	1	1	0	1	1	0	3	3	2	3	3	2	3	3	3	2	2	2			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr8:3267060G>C	ENST00000602557.1	-	14	2187	c.1632C>G	c.(1630-1632)ttC>ttG	p.F544L	CSMD1_ENST00000400186.3_Missense_Mutation_p.F544L|CSMD1_ENST00000542608.1_Missense_Mutation_p.F543L|CSMD1_ENST00000539096.1_Missense_Mutation_p.F543L|CSMD1_ENST00000537824.1_Missense_Mutation_p.F543L|CSMD1_ENST00000602723.1_Missense_Mutation_p.F544L|CSMD1_ENST00000520002.1_Missense_Mutation_p.F544L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	544	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCATGGAGGAAACTGCTGC	0.507													6	13					0	0	0	0	C	3267060	G	C	3267060	3	2	120	1	0	0	0	0	1	0	0	0	3976	1165	41	2		2	CSMD1	8	3267060	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08		3267060	143096962	42	23030											
DLC1	10395	broad.mit.edu	37	chr8	12958063	12958063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgctgctgaggctgcGgacggaagacacctcctggc	7	6	15	13	2	0	2	0	1	0	1	1	4	1	4	3	4	3	3	3	4	1	0			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr8:12958063G>A	ENST00000276297.4	-	9	2192	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	DLC1_ENST00000358919.2_Missense_Mutation_p.R158C|DLC1_ENST00000512044.2_Missense_Mutation_p.R192C|DLC1_ENST00000520226.1_Missense_Mutation_p.R84C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	595					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTGAGGCTGCGGACGGAAGAC	0.701													17	116					0	0	0	0	A	12958063	G	A	12958063	3	1	120	1	0	0	0	0	1	0	0	0	4587	1116	39	1	2843	1	DLC1	8	12958063	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	9691003	12958063	133405959	43	23031											
LZTS1	11178	broad.mit.edu	37	chr8	20107511	20107511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctcggcccgcagccgctCcagctcccgctgcagggcag	5	4	13	19	4	0	0	0	0	0	0	3	0	2	0	4	2	4	7	4	2	0	0			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr8:20107511C>T	ENST00000381569.1	-	4	1870	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	LZTS1_ENST00000522290.1_Intron|LZTS1_ENST00000265801.6_Missense_Mutation_p.E505K			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	505					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CGCAGCCGCTCCAGCTCCCGC	0.716													12	97					0	0	0	0	T	20107511	C	T	20107511	3	4	120	1	0	0	0	0	1	0	0	0	9203	864	30	2	281	2	LZTS1	8	20107511	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	7149448	20107511	126256511	44	23032											
ZMAT4	79698	broad.mit.edu	37	chr8	40554763	40554763	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatcactgttcctgcacgtaCctgtggtctttaatggggtc	6	14	11	10	1	2	0	1	0	1	0	4	1	3	0	2	3	2	3	2	3	2	4			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr8:40554763C>T	ENST00000297737.6	-	4	496		c.e4+1		ZMAT4_ENST00000315769.7_Splice_Site	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4							nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCTGCACGTACCTGTGGTCTT	0.517													18	192					0	0	0	0	T	40554763	C	T	40554763	5	4	120	1	0	0	0	0	0	0	1	0	17789	521	18	4	355	4	ZMAT4	8	40554763	Splice_Site	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	20447252	40554763	105809259	45	23033											
KCNQ3	3786	broad.mit.edu	37	chr8	133196535	133196535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acttcagtcggccccgccagCctttgtatcggcagcaacat	8	9	9	15	3	1	0	1	0	0	0	3	0	1	0	4	2	3	3	4	2	2	3			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr8:133196535C>A	ENST00000388996.4	-	3	977	c.557G>T	c.(556-558)gGc>gTc	p.G186V	KCNQ3_ENST00000519445.1_Missense_Mutation_p.G186V|KCNQ3_ENST00000521134.1_Missense_Mutation_p.G66V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	186					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCCCCGCCAGCCTTTGTATCG	0.542													30	187					2.08457e-15	2.42862e-15	1	0	A	133196535	C	A	133196535	3	1	120	1	0	0	0	0	1	0	0	0	8137	739	26	4	2113	4	KCNQ3	8	133196535	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	92641772	133196535	13167487	46	23034											
FREM1	158326	broad.mit.edu	37	chr9	14808085	14808085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccagcctctccatccgaaaCcaccaatgtaatggtgtcaa	12	8	7	14	1	2	0	1	0	1	0	4	1	3	0	6	1	2	1	6	1	4	1			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr9:14808085C>G	ENST00000380881.4	-	18	3759	c.2944G>C	c.(2944-2946)Gtt>Ctt	p.V982L	FREM1_ENST00000422223.2_Missense_Mutation_p.V981L|FREM1_ENST00000380880.3_Missense_Mutation_p.V981L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	981					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCATCCGAAACCACCAATGTA	0.448													21	90					0	0	0	0	G	14808085	C	G	14808085	3	3	120	1	0	0	0	0	1	0	0	0	6092	507	18	4	3732	4	FREM1	9	14808085	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08		14808085	126405346	47	23035											
FAM189A2	9413	broad.mit.edu	37	chr9	72006659	72006659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgagccgagaggaggccccGgcgagtggaggctgagcggc	7	2	20	12	5	0	2	0	1	0	1	0	7	0	4	4	6	2	1	4	6	0	0			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr9:72006659G>A	ENST00000257515.8	+	11	1712	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q	FAM189A2_ENST00000455972.1_Missense_Mutation_p.R431Q|FAM189A2_ENST00000377216.3_Missense_Mutation_p.R218Q|FAM189A2_ENST00000303068.7_Missense_Mutation_p.R266Q	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	431						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						AGGAGGCCCCGGCGAGTGGAG	0.667													8	36					0	0	0	0	A	72006659	G	A	72006659	3	1	120	1	0	0	0	0	1	0	0	0	5559	1116	39	1	1330	1	FAM189A2	9	72006659	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	57198574	72006659	69206772	48	23036											
IARS	3376	broad.mit.edu	37	chr9	95004436	95004436	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggaactcaggactcacCtgtgttttttcttgaataag	10	14	9	8	0	3	1	2	1	1	0	3	3	3	3	1	2	1	1	1	2	3	5			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr9:95004436C>G	ENST00000375643.3	-	29	3443	c.3177_splice	c.e29+1	p.Q1059_splice	IARS_ENST00000443024.2_Splice_Site_p.Q1059_splice|IARS_ENST00000474340.1_5'UTR|IARS_ENST00000375629.3_Splice_Site_p.Q112_splice|IARS_ENST00000375627.1_Splice_Site_p.Q112_splice|IARS_ENST00000447699.2_Splice_Site_p.Q949_splice	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1059					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CAGGACTCACCTGTGTTTTTT	0.413													16	80					0	0	0	0	G	95004436	C	G	95004436	5	3	120	1	0	0	0	0	0	0	1	0	7526	695	24	4	635	4	IARS	9	95004436	Splice_Site	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	22997777	95004436	46208995	49	23037											
NCOA4	8031	broad.mit.edu	37	chr10	51580587	51580587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcacagttgcataagccGtcacctggaatgtcttagaa	12	11	9	9	1	3	1	2	0	1	1	3	3	3	2	2	1	2	2	2	1	4	4			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr10:51580587G>A	ENST00000452682.1	+	4	473	c.221G>A	c.(220-222)cGt>cAt	p.R74H	NCOA4_ENST00000430396.2_5'UTR|NCOA4_ENST00000374087.4_Missense_Mutation_p.R58H|NCOA4_ENST00000344348.6_Missense_Mutation_p.R58H|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000438493.1_Missense_Mutation_p.R74H|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000374082.1_Missense_Mutation_p.R58H|NCOA4_ENST00000443446.1_Missense_Mutation_p.R58H	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	58					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGCATAAGCCGTCACCTGGAA	0.433			T	RET	papillary thyroid								25	140					0	0	0	0	A	51580587	G	A	51580587	3	1	120	1	0	0	0	0	1	0	0	0	10301	1145	40	1	231	1	NCOA4	10	51580587	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08		51580587	83954160	50	23038											
HRAS	3265	broad.mit.edu	37	chr11	534289	534289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactcttgcccacaccgcCggcgcccaccaccaccagct	7	4	7	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	2	7	1	0	1	rs104894229		TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr11:534289C>T	ENST00000417302.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			11	63					0	0	0	0	T	534289	C	T	534289	3	4	120	1	0	0	0	0	1	0	0	0	7398	652	23	1	618	1	HRAS	11	534289	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08		534289	134472227	51	23039											
MUC5B	727897	broad.mit.edu	37	chr11	1269115	1269115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgttctgctgcaactacGgccactgccccagcaccccg	6	8	10	17	2	1	0	0	0	1	0	1	0	1	0	5	1	6	4	5	1	2	2			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr11:1269115G>A	ENST00000447027.1	+	31	11072	c.11014G>A	c.(11014-11016)Ggc>Agc	p.G3672S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.G3669S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3669	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGCAACTACGGCCACTGCCC	0.592													32	246					0	0	0	0	A	1269115	G	A	1269115	3	1	120	1	0	0	0	0	1	0	0	0	10049	1116	39	1	11136	1	MUC5B	11	1269115	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	734826	1269115	133737401	52	23040											
OR4A5	81318	broad.mit.edu	37	chr11	51411686	51411686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacggtactgccggagctgCaggtagacaaggctttaccc	10	7	12	12	2	0	1	0	0	0	1	0	2	0	2	2	4	6	5	2	4	5	4			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr11:51411686C>A	ENST00000319760.6	-	1	762	c.710G>T	c.(709-711)tGc>tTc	p.C237F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				GCCGGAGCTGCAGGTAGACAA	0.408													12	70					6.40141e-05	6.79796e-05	1	0	A	51411686	C	A	51411686	3	1	120	1	0	0	0	0	1	0	0	0	11114	710	25	4	241	4	OR4A5	11	51411686	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	50142571	51411686	83594830	53	23041											
OR5W2	390148	broad.mit.edu	37	chr11	55681455	55681455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcaataaaaccaaagaCggtgaataacactaactcat	19	8	5	9	1	2	2	2	1	0	1	2	2	2	2	1	1	3	1	1	1	7	4			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr11:55681455C>T	ENST00000344514.1	-	1	603	c.604G>A	c.(604-606)Gtc>Atc	p.V202I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAACCAAAGACGGTGAATAAC	0.388													8	77					0	0	0	0	T	55681455	C	T	55681455	3	4	120	1	0	0	0	0	1	0	0	0	11256	536	19	1	330	1	OR5W2	11	55681455	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	4269769	55681455	79325061	54	23042											
AQP11	282679	broad.mit.edu	37	chr11	77301070	77301072	+	In_Frame_Del	DEL	GCA	GCA	-																															ctggggctccggtccgagctGcaggacacctgcacctcgct																										TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr11:77301070_77301072delGCA	ENST00000313578.3	+	1	391_393	c.33_35delGCA	c.(31-36)ctg>ct	p.LQ11del	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	11						cell surface|integral to membrane	transporter activity			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GGTCCGAGCTGCAGGACACCTGC	0.724													9	37	---	---	---	---					-	77301072	GCA	-	77301070	7	5	120	1	0	1	0	1	0	0	0	0	825	1306	46	0	35	0	AQP11	11	77301070	In_Frame_Del	DEL	GCA	TCGA-CN-A63V-01A-11D-A28R-08	21619615	77301070	57705446	55	23043											
KBTBD3	143879	broad.mit.edu	37	chr11	105923623	105923623	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctgtatttattaaacTgaatcacctggcagtaaaat	13	14	7	7	0	2	1	1	1	1	0	3	1	2	1	1	2	1	3	1	2	7	5			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr11:105923623T>G	ENST00000526793.1	-	3	1952	c.1793A>C	c.(1792-1794)cAg>cCg	p.Q598P	KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q598P|KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q519P	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	594										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TTTATTAAACTGAATCACCTG	0.378													8	71					0	0	0	0	G	105923623	T	G	105923623	3	3	120	1	0	0	0	0	1	0	0	0	8047	1580	55	5	49	5	KBTBD3	11	105923623	Missense_Mutation	SNP	T	TCGA-CN-A63V-01A-11D-A28R-08	28622553	105923623	29082893	56	23044											
GRIN2B	2904	broad.mit.edu	37	chr12	13716227	13716227	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgctgcgcggggccagggcGgcttcttccttctgcaggtc	3	9	15	14	4	2	0	0	0	2	0	4	0	3	0	2	5	2	3	2	5	0	3			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr12:13716227G>A	ENST00000279593.3	-	13	4154	c.3945C>T	c.(3943-3945)gcC>gcT	p.A1315A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1315					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGCCAGGGCGGCTTCTTCCT	0.597													23	117					0	0	0	0	A	13716227	G	A	13716227	2	1	120	1	0	0	0	0	0	0	0	1	6830	1103	39	1		1	GRIN2B	12	13716227	Silent	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08		13716227	120135668	57	23045											
SOX5	6660	broad.mit.edu	37	chr12	23696176	23696176	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgttggagttgtgcatGtcaggaaaggcttgaaggat	10	12	15	4	0	1	2	1	2	0	0	1	5	1	5	0	4	1	4	0	4	2	3			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr12:23696176G>A	ENST00000546136.1	-	12	1703	c.1701C>T	c.(1699-1701)gaC>gaT	p.D567D	SOX5_ENST00000309359.1_Silent_p.D567D|SOX5_ENST00000537393.1_Silent_p.D545D|SOX5_ENST00000451604.2_Silent_p.D580D|SOX5_ENST00000541536.1_Silent_p.D459D|SOX5_ENST00000545921.1_Silent_p.D570D|SOX5_ENST00000381381.2_Silent_p.D459D|SOX5_ENST00000396007.2_Silent_p.D194D			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	580					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AGTTGTGCATGTCAGGAAAGG	0.438													18	100					0	0	0	0	A	23696176	G	A	23696176	2	1	120	1	0	0	0	0	0	0	0	1	15042	1368	48	4		4	SOX5	12	23696176	Silent	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	9979949	23696176	110155719	58	23046											
WSCD2	9671	broad.mit.edu	37	chr12	108620880	108620880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccagaagtgcagcgcGgaggagtttgagagctgcgg	8	7	18	8	3	0	2	0	1	0	2	0	5	0	4	1	3	5	3	1	3	1	1			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr12:108620880G>A	ENST00000332082.4	+	7	1736	c.918G>A	c.(916-918)gcG>gcA	p.A306A	WSCD2_ENST00000261400.3_Silent_p.A306A|WSCD2_ENST00000549903.1_Silent_p.A306A|WSCD2_ENST00000547525.1_Silent_p.A306A			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	306	WSC 2.					integral to membrane		p.A306A(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGTGCAGCGCGGAGGAGTTTG	0.592													20	99					0	0	0	0	A	108620880	G	A	108620880	2	1	120	1	0	0	0	0	0	0	0	1	17503	1103	39	1		1	WSCD2	12	108620880	Silent	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	84924704	108620880	25231015	59	23047											
TMEM132B	114795	broad.mit.edu	37	chr12	126138806	126138806	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctggaaatacagacacaaAaggtttgctgtgagtgagca	14	8	12	7	0	0	3	0	2	0	1	0	4	0	4	1	2	3	3	1	2	4	2			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr12:126138806A>T	ENST00000299308.3	+	9	2795	c.2787A>T	c.(2785-2787)aaA>aaT	p.K929N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.K441N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	929						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACAGACACAAAAGGTTTGCTG	0.502													9	103					0	0	0	0	T	126138806	A	T	126138806	3	4	120	1	0	0	0	0	1	0	0	0	16140	11	1	5	2821	5	TMEM132B	12	126138806	Missense_Mutation	SNP	A	TCGA-CN-A63V-01A-11D-A28R-08	17517926	126138806	7713089	60	23048											
CDK8	1024	broad.mit.edu	37	chr13	26959417	26959417	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatttggatccagtggttgTtacattctggtaccgagccc	8	13	11	9	1	1	1	0	0	1	1	2	3	2	2	3	3	3	3	3	3	2	5			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr13:26959417T>C	ENST00000381527.3	+	6	1087	c.584T>C	c.(583-585)gTt>gCt	p.V195A	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	195	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CCAGTGGTTGTTACATTCTGG	0.358													11	52					0	0	0	0	C	26959417	T	C	26959417	3	2	120	1	0	0	0	0	1	0	0	0	3179	1725	60	5	606	5	CDK8	13	26959417	Missense_Mutation	SNP	T	TCGA-CN-A63V-01A-11D-A28R-08		26959417	88210461	61	23049											
RNF219	79596	broad.mit.edu	37	chr13	79189852	79189852	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agactgaaggtggttatgaaGactgtgcatctctgaggaca	12	10	13	6	0	1	5	0	3	1	2	2	6	1	6	0	3	1	2	0	3	3	1			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr13:79189852G>C	ENST00000282003.6	-	6	2102	c.2044C>G	c.(2044-2046)Ctt>Gtt	p.L682V	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	682	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TGGTTATGAAGACTGTGCATC	0.388													28	101					0	0	0	0	C	79189852	G	C	79189852	3	2	120	1	0	0	0	0	1	0	0	0	13567	942	33	2	140	2	RNF219	13	79189852	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	52230435	79189852	35980026	62	23050											
SLITRK5	26050	broad.mit.edu	37	chr13	88328944	88328944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agacttcctggaggccacggGgctggacctcctgcacctgg	6	7	14	14	1	0	1	0	0	0	1	2	3	2	3	5	6	1	2	5	6	0	1			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr13:88328944G>A	ENST00000325089.6	+	2	1520	c.1301G>A	c.(1300-1302)gGg>gAg	p.G434E	SLITRK5_ENST00000400028.3_Missense_Mutation_p.G193E	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	434						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAGGCCACGGGGCTGGACCTC	0.572													6	72					0	0	0	0	A	88328944	G	A	88328944	3	1	120	1	0	0	0	0	1	0	0	0	14834	1232	43	4	1303	4	SLITRK5	13	88328944	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	9139092	88328944	26840934	63	23051											
TECPR2	9895	broad.mit.edu	37	chr14	102898197	102898197	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagcaagcggagaagctGccaggggccacagtttctga	10	6	15	10	1	1	2	0	1	1	1	1	3	1	2	2	3	5	4	2	3	2	1			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr14:102898197G>T	ENST00000359520.7	+	8	1375	c.1149G>T	c.(1147-1149)ctG>ctT	p.L383L	TECPR2_ENST00000558678.1_Silent_p.L383L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	383							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CGGAGAAGCTGCCAGGGGCCA	0.582													7	132					0.00307968	0.00313188	1	0	T	102898197	G	T	102898197	2	4	120	1	0	0	0	0	0	0	0	1	15838	1306	46	4		4	TECPR2	14	102898197	Silent	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08		102898197	4451343	64	23052											
MKRN3	7681	broad.mit.edu	37	chr15	23811363	23811363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtggaggccctagcaCggctgcgcacatcgagcccc	7	5	14	15	3	0	0	0	0	0	0	1	2	0	1	3	4	4	4	3	4	1	1			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr15:23811363C>T	ENST00000314520.3	+	1	910	c.434C>T	c.(433-435)aCg>aTg	p.T145M	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	145			T -> M (in a colorectal cancer sample; somatic mutation).			ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.T145M(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGCCCTAGCACGGCTGCGCAC	0.652													7	68					0	0	0	0	T	23811363	C	T	23811363	3	4	120	1	0	0	0	0	1	0	0	0	9677	536	19	1	436	1	MKRN3	15	23811363	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08		23811363	78720029	65	23053											
SLC12A6	9990	broad.mit.edu	37	chr15	34546573	34546573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtggaggagcaaaagaaGacttgatggctccagcatag	14	7	14	6	0	0	3	0	1	0	2	1	5	1	5	1	3	2	3	1	3	4	2			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr15:34546573G>A	ENST00000354181.3	-	9	1586	c.1094C>T	c.(1093-1095)tCt>tTt	p.S365F	SLC12A6_ENST00000397702.2_Missense_Mutation_p.S306F|SLC12A6_ENST00000451844.2_Missense_Mutation_p.S177F|SLC12A6_ENST00000397707.2_Missense_Mutation_p.S350F|SLC12A6_ENST00000560611.1_Missense_Mutation_p.S365F|SLC12A6_ENST00000290209.5_Missense_Mutation_p.S314F|SLC12A6_ENST00000558667.1_Missense_Mutation_p.S365F|SLC12A6_ENST00000560164.1_Missense_Mutation_p.S177F|SLC12A6_ENST00000558589.1_Missense_Mutation_p.S356F|SLC12A6_ENST00000458406.2_Missense_Mutation_p.S306F			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	365					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGCAAAAGAAGACTTGATGGC	0.453													4	145					0	0	0	0	A	34546573	G	A	34546573	3	1	120	1	0	0	0	0	1	0	0	0	14475	942	33	2	2430	2	SLC12A6	15	34546573	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	10735210	34546573	67984819	66	23054											
IQCH	64799	broad.mit.edu	37	chr15	67709344	67709344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagccagtcaatgagaaaCggttcccgacgtggaggaaa	14	5	12	10	3	1	1	1	1	0	1	2	5	2	3	2	3	2	1	2	3	3	1	rs142100170	byFrequency	TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr15:67709344C>T	ENST00000335894.4	+	15	2239	c.2173C>T	c.(2173-2175)Cgg>Tgg	p.R725W	IQCH_ENST00000360277.4_Missense_Mutation_p.R386W|IQCH_ENST00000358767.3_Missense_Mutation_p.R461W|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.R382W	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	725										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CAATGAGAAACGGTTCCCGAC	0.443													13	45					0	0	0	0	T	67709344	C	T	67709344	3	4	120	1	0	0	0	0	1	0	0	0	7864	527	19	1	2359	1	IQCH	15	67709344	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	33162771	67709344	34822048	67	23055											
ZNF592	9640	broad.mit.edu	37	chr15	85345396	85345396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggcggcggcagcGgagatggcagtggaggtggc	9	3	23	6	3	0	2	0	0	0	2	0	6	0	4	0	9	1	2	0	9	1	0			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr15:85345396G>A	ENST00000299927.3	+	8	3598	c.3576G>A	c.(3574-3576)gcG>gcA	p.A1192A	ZNF592_ENST00000560079.2_Silent_p.A1192A			Q92610	ZN592_HUMAN	zinc finger protein 592	1192					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGGCGGCAGCGGAGATGGCAG	0.617													7	25					0	0	0	0	A	85345396	G	A	85345396	2	1	120	1	0	0	0	0	0	0	0	1	18117	1103	39	1		1	ZNF592	15	85345396	Silent	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	17636052	85345396	17185996	68	23056											
PRSS53	339105	broad.mit.edu	37	chr16	31097782	31097782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggggcgactgatgagaCgcaggcgcagattgcgtagg	9	7	18	7	4	0	3	0	2	0	2	0	5	0	3	0	4	1	3	0	4	1	2			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr16:31097782C>T	ENST00000280606.6	-	5	692	c.539G>A	c.(538-540)cGt>cAt	p.R180H		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	180	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						ACTGATGAGACGCAGGCGCAG	0.622													14	52					0	0	0	0	T	31097782	C	T	31097782	3	4	120	1	0	0	0	0	1	0	0	0	12711	536	19	1	1150	1	PRSS53	16	31097782	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08		31097782	59256971	69	23057											
ARRB2	409	broad.mit.edu	37	chr17	4619834	4619834	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggtgcccaacccaccccgGccccccacccgcctgcagga	6	2	9	24	3	0	0	0	0	0	0	0	1	0	1	10	3	3	1	10	3	1	0			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr17:4619834G>C	ENST00000269260.2	+	5	521	c.288G>C	c.(286-288)cgG>cgC	p.R96R	ARRB2_ENST00000346341.2_Silent_p.R81R|ARRB2_ENST00000381488.6_Silent_p.R81R|ARRB2_ENST00000575877.1_Silent_p.R96R|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000412477.3_Silent_p.R96R|ARRB2_ENST00000572457.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	96					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACCCACCCCGGCCCCCCACCC	0.672													7	14					0	0	0	0	C	4619834	G	C	4619834	2	2	120	1	0	0	0	0	0	0	0	1	985	1190	42	4		4	ARRB2	17	4619834	Silent	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08		4619834	76575376	70	23058											
CUEDC1	404093	broad.mit.edu	37	chr17	55946537	55946537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcatcttcagacacagcggGgttggcgtcgccagttcctg	6	9	14	12	3	2	1	1	0	1	1	4	1	3	1	2	4	1	3	2	4	0	3			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr17:55946537G>A	ENST00000577830.1	-	7	1299	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	CUEDC1_ENST00000407144.2_Missense_Mutation_p.P296S|CUEDC1_ENST00000577840.1_Missense_Mutation_p.P159S|CUEDC1_ENST00000360238.2_Missense_Mutation_p.P296S|CUEDC1_ENST00000578357.1_5'UTR	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	296										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GACACAGCGGGGTTGGCGTCG	0.607													6	28					0	0	0	0	A	55946537	G	A	55946537	3	1	120	1	0	0	0	0	1	0	0	0	4084	1232	43	4	290	4	CUEDC1	17	55946537	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	51326703	55946537	25248673	71	23059											
BCAS3	54828	broad.mit.edu	37	chr17	58967129	58967129	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgcttatgcagaaaaCaaggtaagacgtggcctgtg	11	10	13	7	1	0	2	0	0	0	2	0	2	0	2	1	3	3	4	1	3	5	3			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr17:58967129C>G	ENST00000589222.1	+	10	803	c.735C>G	c.(733-735)aaC>aaG	p.N245K	BCAS3_ENST00000407086.3_Missense_Mutation_p.N245K|BCAS3_ENST00000390652.5_Missense_Mutation_p.N245K|BCAS3_ENST00000408905.3_Missense_Mutation_p.N245K|BCAS3_ENST00000588462.1_Missense_Mutation_p.N245K|BCAS3_ENST00000585744.1_Missense_Mutation_p.N16K|BCAS3_ENST00000588874.1_Missense_Mutation_p.N16K			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	245						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ATGCAGAAAACAAGGTAAGAC	0.408													11	54					0	0	0	0	G	58967129	C	G	58967129	3	3	120	1	0	0	0	0	1	0	0	0	1356	477	17	4	769	4	BCAS3	17	58967129	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	3020592	58967129	22228081	72	23060											
TMEM200C	645369	broad.mit.edu	37	chr18	5891942	5891942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcagcttgcctttcaccaCcaccacgtcgttcttgcgcc	5	12	6	18	3	3	0	2	0	1	0	4	0	3	0	5	0	3	2	5	0	0	5			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr18:5891942C>A	ENST00000581347.1	-	3	766	c.121G>T	c.(121-123)Gtg>Ttg	p.V41L	TMEM200C_ENST00000383490.2_Missense_Mutation_p.V41L|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	41						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CCTTTCACCACCACCACGTCG	0.602													8	42					3.09899e-07	3.4755e-07	1	0	A	5891942	C	A	5891942	3	1	120	1	0	0	0	0	1	0	0	0	16219	507	18	4	1748	4	TMEM200C	18	5891942	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08		5891942	72185306	73	23061											
DCC	1630	broad.mit.edu	37	chr18	50278661	50278661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattccagacaccacaagcCagatgagggactttaccaat	14	8	7	12	0	1	3	1	1	0	2	2	4	2	4	4	1	2	0	4	1	3	3			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr18:50278661C>T	ENST00000442544.2	+	2	945	c.329C>T	c.(328-330)cCa>cTa	p.P110L	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	110	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACCACAAGCCAGATGAGGGA	0.448													13	102					0	0	0	0	T	50278661	C	T	50278661	3	4	120	1	0	0	0	0	1	0	0	0	4314	594	21	4	335	4	DCC	18	50278661	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	44386719	50278661	27798587	74	23062											
POLRMT	5442	broad.mit.edu	37	chr19	622886	622886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggtaaagtgagaaccGgccctcgtacacctcgcgct	10	6	13	12	4	0	1	0	1	0	1	2	3	0	1	3	3	2	3	3	3	5	2			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr19:622886G>A	ENST00000588649.2	-	7	1474	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	464					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGTGAGAACCGGCCCTCGTAC	0.682													14	14					0	0	0	0	A	622886	G	A	622886	3	1	120	1	0	0	0	0	1	0	0	0	12310	1115	39	1	2362	1	POLRMT	19	622886	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08		622886	58506097	75	23063											
MUC16	94025	broad.mit.edu	37	chr19	9003333	9003333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagagtacagagagctgaCactggtgttcttgaacaagg	13	8	12	8	0	1	4	0	2	1	2	1	5	1	4	1	2	3	3	1	2	3	3			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr19:9003333C>T	ENST00000397910.4	-	50	40305	c.40102G>A	c.(40102-40104)Gtc>Atc	p.V13368I	MUC16_ENST00000380951.5_Missense_Mutation_p.V9I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13370	SEA 9.				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						AGAGAGCTGACACTGGTGTTC	0.532													31	51					0	0	0	0	T	9003333	C	T	9003333	3	4	120	1	0	0	0	0	1	0	0	0	10043	478	17	4	3561	4	MUC16	19	9003333	Missense_Mutation	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08	8380447	9003333	50125650	76	23064											
DNMT1	1786	broad.mit.edu	37	chr19	10265093	10265093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtggtggtggctttcGtgggtcccctgtccttctcc	0	15	14	12	1	1	0	0	0	1	0	5	0	3	0	4	5	0	2	4	5	0	3			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr19:10265093G>A	ENST00000340748.4	-	21	2082	c.1847C>T	c.(1846-1848)aCg>aTg	p.T616M	DNMT1_ENST00000540357.1_Missense_Mutation_p.T616M|DNMT1_ENST00000359526.4_Missense_Mutation_p.T632M			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	616					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGTGGCTTTCGTGGGTCCCCT	0.547													102	141					0	0	0	0	A	10265093	G	A	10265093	3	1	120	1	0	0	0	0	1	0	0	0	4711	1145	40	1	3083	1	DNMT1	19	10265093	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	1261760	10265093	48863890	77	23065											
SMARCA4	6597	broad.mit.edu	37	chr19	11141427	11141427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccacgaaggcggaggaccGgggcatgctgctgaaaacct	12	4	14	11	3	0	1	0	1	0	0	0	4	0	3	3	5	4	3	3	5	4	0			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr19:11141427G>A	ENST00000358026.2	+	25	3688	c.3404G>A	c.(3403-3405)cGg>cAg	p.R1135Q	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1135Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1135	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGGAGGACCGGGGCATGCTG	0.632			"F, N, Mis"		NSCLC								8	13					0	0	0	0	A	11141427	G	A	11141427	3	1	120	1	0	0	0	0	1	0	0	0	14858	1116	39	1	3498	1	SMARCA4	19	11141427	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	876334	11141427	47987556	78	23066											
ZNF233	353355	broad.mit.edu	37	chr19	44778750	44778750	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagagtccatactggagagaAaccatacaaatgttttgtgt	14	11	10	6	0	0	2	0	0	0	2	1	5	1	3	2	1	3	1	2	1	4	4			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr19:44778750A>C	ENST00000391958.2	+	5	2064	c.1937A>C	c.(1936-1938)aAa>aCa	p.K646T	ZNF233_ENST00000334152.1_Missense_Mutation_p.K628T|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ACTGGAGAGAAACCATACAAA	0.418													45	61					0	0	0	0	C	44778750	A	C	44778750	3	2	120	1	0	0	0	0	1	0	0	0	17881	14	1	5	1951	5	ZNF233	19	44778750	Missense_Mutation	SNP	A	TCGA-CN-A63V-01A-11D-A28R-08	33637323	44778750	14350233	79	23067											
VSTM1	284415	broad.mit.edu	37	chr19	54544333	54544333	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactccttgggggtctgccGtctttggagaaaatagatga	9	12	12	8	1	3	3	1	1	2	2	4	4	4	3	2	3	1	0	2	3	3	3			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr19:54544333G>A	ENST00000338372.2	-	9	768	c.591_splice	c.e9-1	p.T198_splice	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Splice_Site_p.T110_splice|VSTM1_ENST00000376626.1_Splice_Site_p.T167_splice	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	198						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GGGGTCTGCCGTCTTTGGAGA	0.453													8	22					0	0	0	0	A	54544333	G	A	54544333	5	1	120	1	0	0	0	0	0	0	1	0	17324	1159	40	1	121	1	VSTM1	19	54544333	Splice_Site	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	9765583	54544333	4584650	80	23068											
C20orf194	25943	broad.mit.edu	37	chr20	3295768	3295768	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaaagactcatccccCtttaaaaacaacaacaaaaa	20	5	3	13	0	1	1	1	0	0	1	2	2	2	2	3	1	3	0	3	1	8	2			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr20:3295768C>T	ENST00000252032.9	-	20	1658		c.e20-1		C20orf194_ENST00000453730.2_Splice_Site|C20orf194_ENST00000498079.1_Splice_Site	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194											NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ACTCATCCCCCTTTAAAAACA	0.388													16	76					0	0	0	0	T	3295768	C	T	3295768	5	4	120	1	0	0	0	0	0	0	1	0	2119	695	24	4	2015	4	C20orf194	20	3295768	Splice_Site	SNP	C	TCGA-CN-A63V-01A-11D-A28R-08		3295768	59729752	81	23069											
SLC17A9	63910	broad.mit.edu	37	chr20	61597910	61597910	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatccaggacttggccccGtcctgcgccggctttctgtt	5	11	10	15	3	1	0	0	0	1	0	3	1	3	1	5	3	2	2	5	3	1	3			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr20:61597910G>A	ENST00000370349.3	+	12	1281	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Silent_p.P365P			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	365					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						ACTTGGCCCCGTCCTGCGCCG	0.647													45	174					0	0	0	0	A	61597910	G	A	61597910	2	1	120	1	0	0	0	0	0	0	0	1	14512	1132	40	1		1	SLC17A9	20	61597910	Silent	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	58302142	61597910	1427610	82	23070											
BAGE2	85319	broad.mit.edu	37	chr21	11058340	11058340	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgaaaggggtaaaggAgagaaatctctttataaaac	17	9	10	5	1	1	2	0	1	1	1	3	4	1	3	0	3	1	2	0	3	7	4	rs28617310	by1000genomes	TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363													8	140					0	0	0	0	C	11058340	A	C	11058340	1	2	120	0	1	0	0	0	0	0	0	0	1296	319	11	5		5	BAGE2	21	11058340	RNA	SNP	A	TCGA-CN-A63V-01A-11D-A28R-08		11058340	37071555	83	23071											
IFNGR2	3460	broad.mit.edu	37	chr21	34809233	34809233	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccattatctcgtttccGgaaaaggagcaagaagatgt	12	11	11	7	2	1	2	0	0	1	2	4	4	3	4	2	2	1	2	2	2	5	2	rs17885407	byFrequency	TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chr21:34809233G>A	ENST00000290219.6	+	7	1626	c.978G>A	c.(976-978)ccG>ccA	p.P326P	TMEM50B_ENST00000468874.2_5'UTR|IFNGR2_ENST00000405436.1_Silent_p.P247P|IFNGR2_ENST00000381995.1_Silent_p.P345P	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	326					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	p.P326P(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TCTCGTTTCCGGAAAAGGAGC	0.502													6	53					0	0	0	0	A	34809233	G	A	34809233	2	1	120	1	0	0	0	0	0	0	0	1	7603	1103	39	1		1	IFNGR2	21	34809233	Silent	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08	23750893	34809233	13320662	84	23072											
NLGN3	54413	broad.mit.edu	37	chrX	70367763	70367763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggaagctaaggggtgcccGagtaccactgcccagtgaga	10	6	15	10	1	0	1	0	1	0	1	0	4	0	2	3	3	4	2	3	3	3	2			TCGA-CN-A63V-01A-11D-A28R-08	TCGA-CN-A63V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	638b8daa-53b7-47ca-847e-542e7f7f439a	b76a5229-61b4-4820-ae31-f656156779f0	g.chrX:70367763G>A	ENST00000374051.3	+	2	486	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	NLGN3_ENST00000536169.1_Missense_Mutation_p.R55Q|NLGN3_ENST00000358741.3_Missense_Mutation_p.R55Q	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	55					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					AGGGGTGCCCGAGTACCACTG	0.627													8	10					0	0	0	0	A	70367763	G	A	70367763	3	1	120	1	0	0	0	0	1	0	0	0	10533	1058	37	1	166	1	NLGN3	23	70367763	Missense_Mutation	SNP	G	TCGA-CN-A63V-01A-11D-A28R-08		70367763	84902797	85	23073											
AHDC1	27245	broad.mit.edu	37	chr1	27876193	27876193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtagtagctgccacggcCtgaggctccactctccagcc	6	8	11	16	1	1	1	0	1	1	0	3	1	2	1	5	2	3	5	5	2	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:27876193C>T	ENST00000374011.2	-	6	3402	c.2434G>A	c.(2434-2436)Ggc>Agc	p.G812S	AHDC1_ENST00000247087.5_Missense_Mutation_p.G812S|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	812	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTGCCACGGCCTGAGGCTCCA	0.652													21	56					0	0	0	0	T	27876193	C	T	27876193	3	4	121	1	0	0	0	0	1	0	0	0	412	681	24	4	2381	4	AHDC1	1	27876193	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08		27876193	221374428	1	23074											
DCDC2B	149069	broad.mit.edu	37	chr1	32678210	32678210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatctggagctgctggtgcCcagcccctccctgcccaggg	4	8	12	17	0	1	0	0	0	1	0	2	1	2	1	5	3	5	2	5	3	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:32678210C>A	ENST00000409358.1	+	5	647	c.647C>A	c.(646-648)cCc>cAc	p.P216H		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	216					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTGCTGGTGCCCAGCCCCTCC	0.602													20	49					3.99206e-14	5.23403e-14	1	0	A	32678210	C	A	32678210	3	1	121	1	0	0	0	0	1	0	0	0	4318	623	22	4	665	4	DCDC2B	1	32678210	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	4802017	32678210	216572411	2	23075											
DLGAP3	58512	broad.mit.edu	37	chr1	35370284	35370284	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccgtgccgggactggTggtggtggtgatggtggtgg	2	12	21	6	2	1	1	0	1	1	0	1	2	1	2	2	8	2	0	2	8	0	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:35370284T>G	ENST00000373347.1	-	3	969	c.701A>C	c.(700-702)cAc>cCc	p.H234P	DLGAP3_ENST00000235180.4_Missense_Mutation_p.H234P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	234	Poly-His.				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCGGGACtggtggtggtggtg	0.652													45	30					0	0	0	0	G	35370284	T	G	35370284	3	3	121	1	0	0	0	0	1	0	0	0	4598	1696	59	5	2278	5	DLGAP3	1	35370284	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	2692074	35370284	213880337	3	23076											
ZNF684	127396	broad.mit.edu	37	chr1	41012254	41012254	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatctgactacccacttgttGatgaaccagggaagcatcgg	12	9	10	10	1	1	3	0	3	1	0	2	4	1	4	2	2	3	2	2	2	4	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:41012254G>C	ENST00000372699.3	+	5	510	c.259G>C	c.(259-261)Gat>Cat	p.D87H	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CCCACTTGTTGATGAACCAGG	0.343													4	38					0	0	0	0	C	41012254	G	C	41012254	3	2	121	1	0	0	0	0	1	0	0	0	18186	1290	45	2	273	2	ZNF684	1	41012254	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	5641970	41012254	208238367	4	23077											
NRD1	4898	broad.mit.edu	37	chr1	52305985	52305985	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatcaagatcatcatcatgTtcatcatcaaactcatcttc	13	14	3	11	0	9	1	8	0	1	1	10	1	9	1	0	0	1	2	0	0	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:52305985T>C	ENST00000354831.7	-	2	732	c.543A>G	c.(541-543)gaA>gaG	p.E181E	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Silent_p.E49E|NRD1_ENST00000539524.1_Silent_p.E49E|NRD1_ENST00000352171.7_Silent_p.E181E	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	178	Asp/Glu-rich (highly acidic).				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						catcatcatgttcatcatcaa	0.373													5	8					0	0	0	0	C	52305985	T	C	52305985	2	2	121	1	0	0	0	0	0	0	0	1	10716	1722	60	5		5	NRD1	1	52305985	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	11293731	52305985	196944636	5	23078											
PODN	127435	broad.mit.edu	37	chr1	53535790	53535790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcggtattgacctgcGtgagttcccgggggacctgc	4	10	16	11	3	0	2	0	2	0	0	1	3	1	3	3	4	2	2	3	4	1	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:53535790G>T	ENST00000371500.3	+	4	691	c.350G>T	c.(349-351)cGt>cTt	p.R117L	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Missense_Mutation_p.R136L|PODN_ENST00000312553.5_Missense_Mutation_p.R136L	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	88					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	p.R136L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTGACCTGCGTGAGTTCCCG	0.677													20	41					0.00229938	0.00243706	1	0	T	53535790	G	T	53535790	3	4	121	1	0	0	0	0	1	0	0	0	12250	1145	40	3	413	3	PODN	1	53535790	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1229805	53535790	195714831	6	23079											
MSH4	4438	broad.mit.edu	37	chr1	76288149	76288149	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaagactcctggagggagtAgacgacttcgttctaatata	12	11	10	8	2	1	2	0	0	1	2	3	5	2	4	1	2	0	2	1	2	5	7			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:76288149A>T	ENST00000263187.3	+	7	1149	c.1045A>T	c.(1045-1047)Aga>Tga	p.R349*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	349					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGGAGGGAGTAGACGACTTCG	0.338								Mismatch excision repair (MMR)					26	42					0	0	0	0	T	76288149	A	T	76288149	4	4	121	1	0	0	0	0	0	1	0	0	9942	412	15	5	1071	5	MSH4	1	76288149	Nonsense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	22752359	76288149	172962472	7	23080											
NEXN	91624	broad.mit.edu	37	chr1	78408200	78408200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgaatggctccactgctGaagatgaagagcaaaccaga	15	7	10	9	0	1	6	1	3	0	3	2	6	2	6	2	1	3	3	2	1	4	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:78408200G>C	ENST00000330010.8	+	12	1819	c.1522G>C	c.(1522-1524)Gaa>Caa	p.E508Q	NEXN_ENST00000457030.1_Missense_Mutation_p.E558Q|NEXN_ENST00000334785.7_Missense_Mutation_p.E572Q|NEXN_ENST00000480732.1_3'UTR	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	572	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CTCCACTGCTGAAGATGAAGA	0.403													14	36					0	0	0	0	C	78408200	G	C	78408200	3	2	121	1	0	0	0	0	1	0	0	0	10425	1291	45	2	1760	2	NEXN	1	78408200	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2120051	78408200	170842421	8	23081											
COL11A1	1301	broad.mit.edu	37	chr1	103379927	103379927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggccaggttccccaGgaggaccaggatctccagga	9	5	14	13	0	1	0	0	0	1	0	3	4	2	4	5	6	1	2	5	6	0	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:103379927G>A	ENST00000358392.2	-	52	4312	c.3995C>T	c.(3994-3996)cCt>cTt	p.P1332L	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1204L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1281L|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1320L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1320	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGTTCCCCAGGAGGACCAGG	0.323													4	13					0	0	0	0	A	103379927	G	A	103379927	3	1	121	1	0	0	0	0	1	0	0	0	3697	1000	35	4	1525	4	COL11A1	1	103379927	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	24971727	103379927	145870694	9	23082											
COL11A1	1301	broad.mit.edu	37	chr1	103387127	103387127	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctggaggaccaggtggccCctgtaagagagaaatattga	12	7	14	8	0	0	3	0	1	0	2	0	6	0	5	4	4	0	1	4	4	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:103387127C>A	ENST00000358392.2	-	48	4008	c.3690_splice	c.e48-1	p.G1231_splice	COL11A1_ENST00000512756.1_Splice_Site_p.G1103_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1180_splice|COL11A1_ENST00000370096.3_Splice_Site_p.G1219_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1219	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAGGTGGCCCCTGTAAGAGA	0.363													17	33					5.03518e-11	6.36591e-11	1	0	A	103387127	C	A	103387127	5	1	121	1	0	0	0	0	0	0	1	0	3697	637	22	4	1845	4	COL11A1	1	103387127	Splice_Site	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	7200	103387127	145863494	10	23083											
AMPD2	271	broad.mit.edu	37	chr1	110171389	110171389	+	Frame_Shift_Del	DEL	C	C	-																															cgtcatgcaccgcgtgcactCccccaacgtgcgctggctgg																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:110171389delC	ENST00000256578.3	+	12	2054	c.1694delC	c.(1693-1695)tcfs	p.S565fs	AMPD2_ENST00000393688.3_Frame_Shift_Del_p.S446fs|AMPD2_ENST00000358729.4_Frame_Shift_Del_p.S490fs|AMPD2_ENST00000342115.4_Frame_Shift_Del_p.S484fs|AMPD2_ENST00000528667.1_Frame_Shift_Del_p.S565fs|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Frame_Shift_Del_p.S447fs	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	565					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CGCGTGCACTCCCCCAACGTG	0.647													2	4	---	---	---	---					-	110171389	C	-	110171389	7	5	121	1	0	1	0	1	0	0	0	0	586	855	30	0	1781	0	AMPD2	1	110171389	Frame_Shift_Del	DEL	C	TCGA-CN-A63W-01A-11D-A30E-08	6784262	110171389	139079232	11	23084											
SLC16A1	6566	broad.mit.edu	37	chr1	113460416	113460416	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagacttatctttccctgcCttggttggcttgggcccgat	4	16	10	11	1	1	1	0	0	1	1	2	2	2	1	3	3	1	2	3	3	2	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:113460416C>T	ENST00000538576.1	-	4	1443	c.612G>A	c.(610-612)aaG>aaA	p.K204K	SLC16A1_ENST00000369626.3_Silent_p.K204K|SLC16A1_ENST00000433570.4_Silent_p.K204K	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	204			K -> E (in SDLT).		blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CTTTCCCTGCCTTGGTTGGCT	0.463													14	29					0	0	0	0	T	113460416	C	T	113460416	2	4	121	1	0	0	0	0	0	0	0	1	14490	680	24	4		4	SLC16A1	1	113460416	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	3289027	113460416	135790205	12	23085											
BCAS2	10286	broad.mit.edu	37	chr1	115110808	115110808	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttgctgcttaatttgAtagatttcattttctagctg	8	19	7	7	0	2	2	1	1	1	1	2	2	2	2	1	0	3	4	1	0	3	8			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:115110808A>C	ENST00000369541.3	-	7	668	c.621T>G	c.(619-621)taT>taG	p.Y207*	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	207					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-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)		GCTTAATTTGATAGATTTCAT	0.373													35	96					0	0	0	0	C	115110808	A	C	115110808	4	2	121	1	0	0	0	0	0	1	0	0	1355	340	12	5	60	5	BCAS2	1	115110808	Nonsense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	1650392	115110808	134139813	13	23086											
SYCP1	6847	broad.mit.edu	37	chr1	115401315	115401315	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattgaagcacagcgaaaaGccattcaggaactgcaagta	17	7	9	8	1	1	1	1	1	0	0	1	3	1	2	1	1	5	3	1	1	7	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:115401315G>C	ENST00000369522.3	+	6	679	c.439G>C	c.(439-441)Gcc>Ccc	p.A147P	SYCP1_ENST00000369518.1_Missense_Mutation_p.A147P	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	147					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		ACAGCGAAAAGCCATTCAGGA	0.313													39	54					0	0	0	0	C	115401315	G	C	115401315	3	2	121	1	0	0	0	0	1	0	0	0	15522	971	34	4	457	4	SYCP1	1	115401315	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	290507	115401315	133849306	14	23087											
SPAG17	200162	broad.mit.edu	37	chr1	118623726	118623726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacactttaacttacccAgagactcatgttggggctga	12	10	8	11	0	1	2	1	1	0	1	1	3	1	2	1	2	2	2	1	2	2	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:118623726A>G	ENST00000336338.5	-	15	2272	c.2207T>C	c.(2206-2208)cTg>cCg	p.L736P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	736				L -> P (in Ref. 3; BAC03753).		cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAACTTACCCAGAGACTCATG	0.383													12	51					0	0	0	0	G	118623726	A	G	118623726	3	3	121	1	0	0	0	0	1	0	0	0	15069	188	7	5	4600	5	SPAG17	1	118623726	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	3222411	118623726	130626895	15	23088											
TBX15	6913	broad.mit.edu	37	chr1	119474355	119474355	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacatggcagcaggcacAgggcctgcagcaccagaggc	12	2	15	12	0	0	2	0	0	0	2	0	3	0	2	2	4	3	5	2	4	1	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:119474355A>T	ENST00000369429.3	-	2	315	c.306T>A	c.(304-306)ccT>ccA	p.P102P	TBX15_ENST00000207157.3_5'UTR			Q96SF7	TBX15_HUMAN	T-box 15	102						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CAGCAGGCACAGGGCCTGCAG	0.532													13	8					0	0	0	0	T	119474355	A	T	119474355	2	4	121	1	0	0	0	0	0	0	0	1	15746	203	7	5		5	TBX15	1	119474355	Silent	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	850629	119474355	129776266	16	23089											
LCE2C	353140	broad.mit.edu	37	chr1	152648469	152648469	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttcattattatctttcAggttgactaaactcctgcca	10	16	6	9	0	3	1	2	1	1	0	4	2	4	1	2	1	2	2	2	1	4	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:152648469A>T	ENST00000368783.1	+	2	34		c.e2-1		LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C						keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTATCTTTCAGGTTGACTAA	0.403													20	40					0	0	0	0	T	152648469	A	T	152648469	5	4	121	1	0	0	0	0	0	0	1	0	8720	202	7	5		5	LCE2C	1	152648469	Splice_Site	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	33174114	152648469	96602152	17	23090											
HCN3	57657	broad.mit.edu	37	chr1	155255066	155255066	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaagatgttcgatgaggaAagcatcctgggcgagctgag	11	7	16	7	2	0	3	0	2	0	1	2	6	1	4	1	3	2	4	1	3	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:155255066A>C	ENST00000368358.3	+	5	1208	c.1200A>C	c.(1198-1200)gaA>gaC	p.E400D	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	400						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCGATGAGGAAAGCATCCTGG	0.622													31	28					0	0	0	0	C	155255066	A	C	155255066	3	2	121	1	0	0	0	0	1	0	0	0	7048	11	1	5	1218	5	HCN3	1	155255066	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	2606597	155255066	93995555	18	23091											
SYT11	23208	broad.mit.edu	37	chr1	155837976	155837976	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagagacaaagatggtccTgggagggaaggtggacgtag	12	5	19	5	2	0	2	0	0	0	2	1	7	1	6	1	6	0	1	1	6	3	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:155837976T>G	ENST00000368324.4	+	2	508	c.255T>G	c.(253-255)ccT>ccG	p.P85P	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	85						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AAGATGGTCCTGGGAGGGAAG	0.512													35	48					0	0	0	0	G	155837976	T	G	155837976	2	3	121	1	0	0	0	0	0	0	0	1	15558	1567	55	5		5	SYT11	1	155837976	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	582910	155837976	93412645	19	23092											
BCAN	63827	broad.mit.edu	37	chr1	156616845	156616845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcactgcctgcgtacccagCgtcgctcaccgacgtctccc	5	7	10	19	5	2	0	1	0	1	0	4	1	2	0	4	1	4	3	4	1	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:156616845C>T	ENST00000329117.4	+	3	680	c.344C>T	c.(343-345)gCg>gTg	p.A115V	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.A115V	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	115	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.A115V(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCGTACCCAGCGTCGCTCACC	0.682													8	13					0	0	0	0	T	156616845	C	T	156616845	3	4	121	1	0	0	0	0	1	0	0	0	1349	768	27	1	350	1	BCAN	1	156616845	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	778869	156616845	92633776	20	23093											
SPTA1	6708	broad.mit.edu	37	chr1	158623181	158623181	+	Frame_Shift_Del	DEL	C	C	-																															catagacagctgggacaatgCcctgatgatcagcagcttcc																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:158623181delC	ENST00000368148.3	-	22	3251	c.3071delG	c.(3070-3072)gcfs	p.G1024fs	SPTA1_ENST00000368147.3_Frame_Shift_Del_p.G1024fs	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1024	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGGACAATGCCCTGATGATC	0.552													22	36	---	---	---	---					-	158623181	C	-	158623181	7	5	121	1	0	1	0	1	0	0	0	0	15206	739	26	0	4312	0	SPTA1	1	158623181	Frame_Shift_Del	DEL	C	TCGA-CN-A63W-01A-11D-A30E-08	2006336	158623181	90627440	21	23094											
C1orf112	55732	broad.mit.edu	37	chr1	169772434	169772434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatataattaaaagcaCatttgtgcattgtaaggtga	14	14	7	6	0	1	1	1	1	0	0	1	1	1	1	1	1	2	3	1	1	5	7			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:169772434C>G	ENST00000286031.6	+	5	996	c.296C>G	c.(295-297)aCa>aGa	p.T99R	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.T99R|C1orf112_ENST00000456684.1_Missense_Mutation_p.T157R|C1orf112_ENST00000413811.2_Missense_Mutation_p.T70R	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	99										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTAAAAGCACATTTGTGCAT	0.353													12	13					0	0	0	0	G	169772434	C	G	169772434	3	3	121	1	0	0	0	0	1	0	0	0	2004	478	17	4	306	4	C1orf112	1	169772434	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	11149253	169772434	79478187	22	23095											
C1orf112	55732	broad.mit.edu	37	chr1	169798416	169798416	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgcaggatatctctactCaaagccgttttctacagttt	9	14	6	12	1	3	0	1	0	2	0	4	1	3	1	2	1	4	3	2	1	4	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:169798416C>G	ENST00000413811.2	+	11	1158	c.923C>G	c.(922-924)tCa>tGa	p.S308*	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000286031.6_Silent_p.L380L|C1orf112_ENST00000359326.4_Silent_p.L380L			Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	337								p.L380L(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATCTCTACTCAAAGCCGTTT	0.368													4	23					0	0	0	0	G	169798416	C	G	169798416	4	3	121	1	0	0	0	0	0	1	0	0	2004	813	29	2	1182	2	C1orf112	1	169798416	Nonsense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	25982	169798416	79452205	23	23096											
FMO3	2328	broad.mit.edu	37	chr1	171076876	171076876	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactggccagtgggatgttAccactgaaagggatggtaaa	12	9	13	7	0	0	1	0	1	0	0	0	3	0	3	2	4	2	2	2	4	5	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:171076876A>G	ENST00000367755.4	+	4	493	c.382A>G	c.(382-384)Acc>Gcc	p.T128A	FMO3_ENST00000538429.1_Missense_Mutation_p.T65A|FMO3_ENST00000392085.2_Missense_Mutation_p.T128A|FMO3_ENST00000542847.1_Missense_Mutation_p.T108A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	128					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGGGATGTTACCACTGAAAG	0.398													29	29					0	0	0	0	G	171076876	A	G	171076876	3	3	121	1	0	0	0	0	1	0	0	0	6001	391	14	5	392	5	FMO3	1	171076876	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	1278460	171076876	78173745	24	23097											
DNM3	26052	broad.mit.edu	37	chr1	172376917	172376917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttctctttctagccggaGaccacccccatcaccaactc	8	12	4	17	1	3	1	1	0	2	1	5	2	3	1	5	1	2	0	5	1	2	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:172376917G>A	ENST00000358155.4	+	21	2704	c.2528G>A	c.(2527-2529)aGa>aAa	p.R843K	DNM3_ENST00000367731.1_Missense_Mutation_p.R839K|PIGC_ENST00000484368.1_Intron|DNM3_ENST00000355305.5_Missense_Mutation_p.R849K	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	849					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCTAGCCGGAGACCACCCCCA	0.433													22	72					0	0	0	0	A	172376917	G	A	172376917	3	1	121	1	0	0	0	0	1	0	0	0	4709	942	33	2	2610	2	DNM3	1	172376917	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1300041	172376917	76873704	25	23098											
TNN	63923	broad.mit.edu	37	chr1	175066654	175066654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattgacaagtacgtggtgCgctacacctctgctgacgac	9	9	10	13	3	1	2	0	2	1	0	1	3	1	2	2	1	4	3	2	1	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:175066654C>T	ENST00000239462.4	+	8	1803	c.1690C>T	c.(1690-1692)Cgc>Tgc	p.R564C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	564	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.R564C(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTACGTGGTGCGCTACACCTC	0.587													4	27					0	0	0	0	T	175066654	C	T	175066654	3	4	121	1	0	0	0	0	1	0	0	0	16417	768	27	1	1716	1	TNN	1	175066654	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	2689737	175066654	74183967	26	23099											
TPR	7175	broad.mit.edu	37	chr1	186302298	186302298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaaggccgctcaactggtGaactctgaacaacctctact	12	9	8	12	1	3	3	1	2	2	1	3	3	3	3	2	2	5	1	2	2	7	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:186302298G>A	ENST00000367478.3	-	37	5707	c.5411C>T	c.(5410-5412)tCa>tTa	p.S1804L		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1804					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCAACTGGTGAACTCTGAAC	0.408			T	NTRK1	papillary thyroid								10	27					0	0	0	0	A	186302298	G	A	186302298	3	1	121	1	0	0	0	0	1	0	0	0	16511	1294	45	2	1740	2	TPR	1	186302298	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	11235644	186302298	62948323	27	23100											
CFH	3075	broad.mit.edu	37	chr1	196645186	196645186	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggaccaatgatattcctAtatgtgaaggtagacataaa	16	11	9	5	0	0	3	0	2	0	1	1	5	1	4	2	2	0	1	2	2	8	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:196645186A>T	ENST00000367429.4	+	4	658	c.418A>T	c.(418-420)Ata>Tta	p.I140L	CFH_ENST00000359637.2_Missense_Mutation_p.I140L|CFH_ENST00000439155.2_Missense_Mutation_p.I140L	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	140	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGATATTCCTATATGTGAAGG	0.274													18	29					0	0	0	0	T	196645186	A	T	196645186	3	4	121	1	0	0	0	0	1	0	0	0	3312	449	16	5	432	5	CFH	1	196645186	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	10342888	196645186	52605435	28	23101											
CFHR1	3078	broad.mit.edu	37	chr1	196796048	196796048	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactgtgcaaattatttgcAacacaggatacagacttcaa	16	11	6	8	0	1	1	1	0	0	1	1	2	1	2	0	1	5	2	0	1	6	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:196796048A>G	ENST00000320493.5	+	3	431	c.343A>G	c.(343-345)Aac>Gac	p.N115D	CFHR1_ENST00000367424.3_Missense_Mutation_p.N115D|CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	115	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AATTATTTGCAACACAGGATA	0.428													24	48					0	0	0	0	G	196796048	A	G	196796048	3	3	121	1	0	0	0	0	1	0	0	0	3313	130	5	5	353	5	CFHR1	1	196796048	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	150862	196796048	52454573	29	23102											
CFHR5	81494	broad.mit.edu	37	chr1	196964875	196964875	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatcatgtggtccacctccTcaactctccaatggtgaagt	9	11	8	13	1	3	1	2	1	1	0	6	2	5	1	4	2	1	0	4	2	3	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:196964875T>C	ENST00000367414.5	+	5	764	c.708T>C	c.(706-708)ccT>ccC	p.P236P	CFHR5_ENST00000256785.4_Silent_p.P212P	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	212	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTCCACCTCCTCAACTCTCCA	0.328													12	19					0	0	0	0	C	196964875	T	C	196964875	2	2	121	1	0	0	0	0	0	0	0	1	3317	1538	54	5		5	CFHR5	1	196964875	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	168827	196964875	52285746	30	23103											
CRB1	23418	broad.mit.edu	37	chr1	197391036	197391036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatcaacttgtggctgaGttaccagtgtgactgccaca	9	11	10	11	0	1	2	1	2	0	0	1	2	1	2	2	1	4	3	2	1	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:197391036G>A	ENST00000367397.1	+	2	1079	c.221G>A	c.(220-222)aGt>aAt	p.S74N	CRB1_ENST00000538660.1_Missense_Mutation_p.S693N|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.S624N|CRB1_ENST00000367400.3_Missense_Mutation_p.S693N|CRB1_ENST00000367399.2_Missense_Mutation_p.S581N|CRB1_ENST00000544212.1_Missense_Mutation_p.S174N			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	693	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGTGGCTGAGTTACCAGTGT	0.517													25	20					0	0	0	0	A	197391036	G	A	197391036	3	1	121	1	0	0	0	0	1	0	0	0	3878	1029	36	4	2100	4	CRB1	1	197391036	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	426161	197391036	51859585	31	23104											
FMOD	2331	broad.mit.edu	37	chr1	203316799	203316799	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtacaaggccgtgaggttCtccagcccctccagagcatt	9	8	11	13	1	1	2	0	1	1	1	3	2	2	2	5	3	3	3	5	3	2	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:203316799C>T	ENST00000354955.4	-	2	1063	c.600G>A	c.(598-600)gaG>gaA	p.E200E	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	200					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CCGTGAGGTTCTCCAGCCCCT	0.587													30	90					0	0	0	0	T	203316799	C	T	203316799	2	4	121	1	0	0	0	0	0	0	0	1	6004	912	32	2		2	FMOD	1	203316799	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	5925763	203316799	45933822	32	23105											
SLC41A1	254428	broad.mit.edu	37	chr1	205779303	205779303	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggaggtctccttgagcggGgaaggtggcgcagggccacg	8	5	19	9	3	1	1	0	1	1	0	2	3	1	3	2	7	1	1	2	7	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:205779303G>A	ENST00000367137.3	-	2	1281	c.267C>T	c.(265-267)tcC>tcT	p.S89S		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	89						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCTTGAGCGGGGAAGGTGGCG	0.622													27	39					0	0	0	0	A	205779303	G	A	205779303	2	1	121	1	0	0	0	0	0	0	0	1	14717	1219	43	4		4	SLC41A1	1	205779303	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2462504	205779303	43471318	33	23106											
CR2	1380	broad.mit.edu	37	chr1	207652615	207652615	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttaggttcacttgctccTgtcctttgtggtaagtcttc	4	20	8	9	0	2	0	1	0	1	0	5	0	4	0	2	2	1	3	2	2	2	8			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:207652615T>A	ENST00000367057.3	+	17	3291	c.3102T>A	c.(3100-3102)ccT>ccA	p.P1034P	CR2_ENST00000367059.3_Silent_p.P913P|CR2_ENST00000458541.2_Silent_p.P948P|CR2_ENST00000367058.3_Silent_p.P975P	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	975					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CACTTGCTCCTGTCCTTTGTG	0.313													12	18					0	0	0	0	A	207652615	T	A	207652615	2	1	121	1	0	0	0	0	0	0	0	1	3872	1567	55	5		5	CR2	1	207652615	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	1873312	207652615	41598006	34	23107											
PLXNA2	5362	broad.mit.edu	37	chr1	208211756	208211756	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccgcttccagtcacccTcaatcttggtggtgatgtcc	6	12	10	13	1	3	2	2	2	1	0	5	2	5	2	4	2	1	1	4	2	1	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:208211756T>C	ENST00000367033.3	-	26	5481	c.4724A>G	c.(4723-4725)gAg>gGg	p.E1575G		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1575					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCAGTCACCCTCAATCTTGGT	0.602													21	59					0	0	0	0	C	208211756	T	C	208211756	3	2	121	1	0	0	0	0	1	0	0	0	12192	1551	54	5	988	5	PLXNA2	1	208211756	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	559141	208211756	41038865	35	23108											
INTS7	25896	broad.mit.edu	37	chr1	212118150	212118150	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtcttgtccagatttactCtgcagtgtggaagaaacatt	11	14	9	7	0	2	2	0	0	2	2	3	3	3	3	1	1	3	1	1	1	4	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:212118150C>G	ENST00000366994.3	-	19	2681	c.2577G>C	c.(2575-2577)caG>caC	p.Q859H	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.Q839H|INTS7_ENST00000440600.2_Missense_Mutation_p.Q810H|INTS7_ENST00000366993.3_Missense_Mutation_p.Q845H	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	859					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CAGATTTACTCTGCAGTGTGG	0.418													5	74					0	0	0	0	G	212118150	C	G	212118150	3	3	121	1	0	0	0	0	1	0	0	0	7836	912	32	2	319	2	INTS7	1	212118150	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	3906394	212118150	37132471	36	23109											
RPS6KC1	26750	broad.mit.edu	37	chr1	213349785	213349785	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctttggaacctaaggAgccctgccgaggagctgaag	9	6	14	12	1	0	1	0	1	0	0	0	5	0	4	5	4	4	1	5	4	3	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:213349785A>T	ENST00000366960.3	+	8	1144	c.994A>T	c.(994-996)Agc>Tgc	p.S332C	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S320C|RPS6KC1_ENST00000543470.1_Intron|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S35C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	332					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAACCTAAGGAGCCCTGCCGA	0.473													25	49					0	0	0	0	T	213349785	A	T	213349785	3	4	121	1	0	0	0	0	1	0	0	0	13743	304	11	5	1024	5	RPS6KC1	1	213349785	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	1231635	213349785	35900836	37	23110											
KCNK2	3776	broad.mit.edu	37	chr1	215345468	215345468	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctggagtgccctggaCgccatttattttgtggttat	7	14	13	7	1	0	0	0	0	0	0	0	3	0	2	2	4	1	2	2	4	3	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:215345468C>T	ENST00000444842.2	+	5	915	c.765C>T	c.(763-765)gaC>gaT	p.D255D	KCNK2_ENST00000391894.2_Silent_p.D240D|KCNK2_ENST00000391895.2_Silent_p.D251D	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	255							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GTGCCCTGGACGCCATTTATT	0.423													20	47					0	0	0	0	T	215345468	C	T	215345468	2	4	121	1	0	0	0	0	0	0	0	1	8119	535	19	1		1	KCNK2	1	215345468	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	1995683	215345468	33905153	38	23111											
SLC30A10	55532	broad.mit.edu	37	chr1	220091794	220091794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatggccgtgatgaccacaAccacggaccccagggcatct	10	6	11	14	2	1	3	0	3	1	0	1	4	1	4	5	3	1	1	5	3	1	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:220091794A>G	ENST00000366926.3	-	3	922	c.761T>C	c.(760-762)gTt>gCt	p.V254A	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.V9A	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	254	Poly-Val.				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GATGACCACAACCACGGACCC	0.527													25	64					0	0	0	0	G	220091794	A	G	220091794	3	3	121	1	0	0	0	0	1	0	0	0	14642	43	2	5	704	5	SLC30A10	1	220091794	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	4746326	220091794	29158827	39	23112											
NVL	4931	broad.mit.edu	37	chr1	224463099	224463099	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcaaagaatatcacacagGgtgctgagttcttggctcgt	11	11	10	9	1	3	2	2	1	1	1	4	2	3	2	0	2	1	3	0	2	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:224463099G>C	ENST00000281701.6	-	17	2283	c.2024C>G	c.(2023-2025)cCc>cGc	p.P675R	NVL_ENST00000482491.1_Missense_Mutation_p.P399R|NVL_ENST00000391875.2_Missense_Mutation_p.P569R|NVL_ENST00000361463.3_Missense_Mutation_p.P569R|NVL_ENST00000340871.4_Missense_Mutation_p.P486R|NVL_ENST00000469075.1_Missense_Mutation_p.P584R	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	675						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TATCACACAGGGTGCTGAGTT	0.408													28	50					0	0	0	0	C	224463099	G	C	224463099	3	2	121	1	0	0	0	0	1	0	0	0	10851	1232	43	4	574	4	NVL	1	224463099	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	4371305	224463099	24787522	40	23113											
OBSCN	84033	broad.mit.edu	37	chr1	228400265	228400265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgcgcctcagctgctacGtgaccggcgagcccaagccc	7	4	12	18	6	1	1	1	1	0	0	1	2	1	1	4	1	5	2	4	1	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:228400265G>C	ENST00000570156.2	+	2	855	c.781G>C	c.(781-783)Gtg>Ctg	p.V261L	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V261L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.V261L|C1orf145_ENST00000295012.5_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	261	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCTGCTACGTGACCGGCGA	0.711													27	25					0	0	0	0	C	228400265	G	C	228400265	3	2	121	1	0	0	0	0	1	0	0	0	10883	1145	40	3	783	3	OBSCN	1	228400265	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	3937166	228400265	20850356	41	23114											
OBSCN	84033	broad.mit.edu	37	chr1	228566495	228566495	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacctggcccaggtgcgctGagggtcgccccggccacacc	6	4	13	18	3	0	1	0	1	0	0	1	1	0	1	6	4	2	1	6	4	1	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:228566495G>A	ENST00000570156.2	+	116	26845	c.26771G>A	c.(26770-26772)tGa>tAa	p.*8924*	OBSCN_ENST00000366707.4_Silent_p.*5603*|OBSCN_ENST00000422127.1_Silent_p.*7969*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGTGCGCTGAGGGTCGCCC	0.667													12	8					0	0	0	0	A	228566495	G	A	228566495	2	1	121	1	0	0	0	0	0	0	0	1	10883	1285	45	2		2	OBSCN	1	228566495	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	166230	228566495	20684126	42	23115											
RYR2	6262	broad.mit.edu	37	chr1	237659936	237659936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcaactcacctgcgagtggGctgggcttccactgaaggat	9	8	13	11	1	1	1	1	1	0	0	2	3	2	2	2	3	3	3	2	3	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:237659936G>T	ENST00000366574.2	+	20	2404	c.2087G>T	c.(2086-2088)gGc>gTc	p.G696V	RYR2_ENST00000542537.1_Missense_Mutation_p.G680V|RYR2_ENST00000360064.6_Missense_Mutation_p.G694V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	696	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGCGAGTGGGCTGGGCTTCC	0.507													30	26					7.01153e-11	8.84353e-11	1	0	T	237659936	G	T	237659936	3	4	121	1	0	0	0	0	1	0	0	0	13854	1203	42	4	2165	4	RYR2	1	237659936	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	9093441	237659936	11590685	43	23116											
FMN2	56776	broad.mit.edu	37	chr1	240492374	240492374	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttggtttttgtttttctAgagagcacagtcagacgaac	10	16	9	6	1	2	2	1	0	1	2	2	4	2	2	0	1	2	3	0	1	3	7			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:240492374A>T	ENST00000319653.9	+	9	4445		c.e9-1		FMN2_ENST00000545751.1_Splice_Site	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2						actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTGTTTTTCTAGAGAGCACAG	0.368													17	23					0	0	0	0	T	240492374	A	T	240492374	5	4	121	1	0	0	0	0	0	0	1	0	5995	434	15	5	4248	5	FMN2	1	240492374	Splice_Site	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	2832438	240492374	8758247	44	23117											
OR2T1	26696	broad.mit.edu	37	chr1	248570267	248570267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagcccaggacaaagtcctCtctgtgttttacaccattct	9	12	6	14	0	2	0	0	0	2	0	4	1	3	1	4	1	2	1	4	1	2	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:248570267C>T	ENST00000366474.1	+	1	972	c.972C>T	c.(970-972)ctC>ctT	p.L324L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAAAGTCCTCTCTGTGTTTT	0.527													35	87					0	0	0	0	T	248570267	C	T	248570267	2	4	121	1	0	0	0	0	0	0	0	1	11087	900	32	2		2	OR2T1	1	248570267	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	8077893	248570267	680354	45	23118											
OR2T10	127069	broad.mit.edu	37	chr1	248756314	248756314	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttgtaaatagcagctccAtagaagaggctgaccactgt	13	10	10	8	0	0	3	0	1	0	2	1	3	1	3	2	1	2	5	2	1	6	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:248756314A>G	ENST00000330500.2	-	1	786	c.756T>C	c.(754-756)taT>taC	p.Y252Y		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAGCAGCTCCATAGAAGAGGC	0.453													13	10					0	0	0	0	G	248756314	A	G	248756314	2	3	121	1	0	0	0	0	0	0	0	1	11088	224	8	5		5	OR2T10	1	248756314	Silent	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	186047	248756314	494307	46	23119											
GEN1	348654	broad.mit.edu	37	chr2	17962285	17962285	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaattctccagctattcaAaggaatactttttctcatga	13	15	5	8	0	3	1	2	1	2	0	5	2	3	2	1	1	2	2	1	1	5	7			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:17962285A>G	ENST00000381254.2	+	14	2020	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	GEN1_ENST00000317402.7_Silent_p.Q602Q|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	602					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAGCTATTCAAAGGAATACTT	0.373								Homologous recombination					19	35					0	0	0	0	G	17962285	A	G	17962285	2	3	121	1	0	0	0	0	0	0	0	1	6386	11	1	5		5	GEN1	2	17962285	Silent	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08		17962285	225237088	47	23120											
APOB	338	broad.mit.edu	37	chr2	21231606	21231606	+	Missense_Mutation	SNP	G	G	T																															aattgcgatttctggtaaacGgaagtctggcagggtgattc																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:21231606G>T	ENST00000233242.1	-	26	8261	c.8134C>A	c.(8134-8136)Cgt>Agt	p.R2712S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2712					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTGGTAAACGGAAGTCTGGC	0.463													44	100					3.54561e-26	5.07471e-26	1	0	T	21231606	G	T	21231606	3	4	121	1	0	0	0	0	1	0	0	0	787	1116	39	3	5573	3	APOB	2	21231606	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	3269321	21231606	221967767	48	23121	191	2									
APOB	338	broad.mit.edu	37	chr2	21231607	21231607	+	Missense_Mutation	SNP	G	G	T																															attgcgatttctggtaaacgGaagtctggcagggtgattct																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:21231607G>T	ENST00000233242.1	-	26	8260	c.8133C>A	c.(8131-8133)ttC>ttA	p.F2711L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2711					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGTAAACGGAAGTCTGGCA	0.463													43	99					5.20837e-25	7.4146e-25	1	0	T	21231607	G	T	21231607	3	4	121	1	0	0	0	0	1	0	0	0	787	1165	41	2	5574	2	APOB	2	21231607	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1	21231607	221967766	49	23122	191	2									
DTNB	1838	broad.mit.edu	37	chr2	25610229	25610229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaccagcaggtcattgCggaggtttctcctcgtacct	6	11	10	14	2	2	0	1	0	1	0	4	1	2	1	4	3	4	3	4	3	1	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:25610229C>T	ENST00000406818.3	-	18	2003	c.1754G>A	c.(1753-1755)cGc>cAc	p.R585H	DTNB_ENST00000407186.1_Missense_Mutation_p.R548H|DTNB_ENST00000405222.1_Intron|DTNB_ENST00000545439.1_Missense_Mutation_p.R374H|DTNB_ENST00000496972.2_Missense_Mutation_p.R521H|DTNB_ENST00000288642.8_Intron|DTNB_ENST00000407661.3_Missense_Mutation_p.R585H|DTNB_ENST00000407038.3_Intron|DTNB_ENST00000404103.3_Intron	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	585						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGTCATTGCGGAGGTTTCT	0.587													11	20					0	0	0	0	T	25610229	C	T	25610229	3	4	121	1	0	0	0	0	1	0	0	0	4825	768	27	1	141	1	DTNB	2	25610229	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	4378622	25610229	217589144	50	23123											
TRMT61B	55006	broad.mit.edu	37	chr2	29092739	29092739	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggggagacgtgacgctcTtcgacctcggtagcggactg	8	7	16	10	5	1	2	0	1	1	1	3	6	1	3	1	4	1	2	1	4	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:29092739T>C	ENST00000306108.5	-	1	428	c.405A>G	c.(403-405)gaA>gaG	p.E135E		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	135							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CGTGACGCTCTTCGACCTCGG	0.577													17	19					0	0	0	0	C	29092739	T	C	29092739	2	2	121	1	0	0	0	0	0	0	0	1	16665	1606	56	5		5	TRMT61B	2	29092739	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	3482510	29092739	214106634	51	23124											
ALK	238	broad.mit.edu	37	chr2	30143171	30143171	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggacagcgtccgggcctCtgccggggctggtgaaccgg	4	6	17	14	4	1	1	0	1	1	0	2	2	2	2	5	6	3	1	5	6	1	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:30143171C>A	ENST00000389048.3	-	1	1261	c.355G>T	c.(355-357)Gag>Tag	p.E119*	ALK_ENST00000431873.1_Nonsense_Mutation_p.E119*	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	119					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTCCGGGCCTCTGCCGGGGCT	0.731			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	0					0.004672	0.00491254	1	0	A	30143171	C	A	30143171	4	1	121	1	0	0	0	0	0	1	0	0	525	922	32	2	4623	2	ALK	2	30143171	Nonsense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	1050432	30143171	213056202	52	23125											
MEMO1	51072	broad.mit.edu	37	chr2	32093471	32093471	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcataactcactgaacTgtcttgccagtttctacact	10	13	6	12	0	3	1	1	1	2	0	3	1	3	1	1	0	6	3	1	0	3	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:32093471T>G	ENST00000295065.4	-	9	1162	c.853A>C	c.(853-855)Agt>Cgt	p.S285R	MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.S262R|MEMO1_ENST00000404530.1_Missense_Mutation_p.S285R|MEMO1_ENST00000379383.3_Missense_Mutation_p.S288R	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	285					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					CTCACTGAACTGTCTTGCCAG	0.478													5	7					0	0	0	0	G	32093471	T	G	32093471	3	3	121	1	0	0	0	0	1	0	0	0	9540	1580	55	5	44	5	MEMO1	2	32093471	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	1950300	32093471	211105902	53	23126											
DCTN1	1639	broad.mit.edu	37	chr2	74598237	74598237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgctttgtcttctgcccGtttcagtctcagggtctcta	3	18	8	12	1	5	0	2	0	4	0	7	0	5	0	1	1	2	2	1	1	1	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:74598237G>A	ENST00000361874.3	-	9	1029	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	DCTN1_ENST00000407639.2_Missense_Mutation_p.R104W|DCTN1_ENST00000409240.1_Missense_Mutation_p.R201W|DCTN1_ENST00000409567.3_Missense_Mutation_p.R218W|DCTN1_ENST00000409438.1_Missense_Mutation_p.R104W|DCTN1_ENST00000409868.1_Missense_Mutation_p.R221W|DCTN1_ENST00000394003.3_Missense_Mutation_p.R231W	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	238					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCTTCTGCCCGTTTCAGTCTC	0.552													167	236					0	0	0	0	A	74598237	G	A	74598237	3	1	121	1	0	0	0	0	1	0	0	0	4338	1144	40	1	3220	1	DCTN1	2	74598237	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	42504766	74598237	168601136	54	23127											
EIF2AK3	9451	broad.mit.edu	37	chr2	88857359	88857359	+	Frame_Shift_Del	DEL	A	A	-																															ctgagcactgtttttcctggAaagtccaagtcctcaaatac																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:88857359delA	ENST00000303236.3	-	17	3547	c.3246delT	c.(3244-3246)ttfs	p.F1082fs	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.F931fs	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1082					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TTTTTCCTGGAAAGTCCAAGT	0.458													60	76	---	---	---	---					-	88857359	A	-	88857359	7	5	121	1	0	1	0	1	0	0	0	0	5034	243	9	0	108	0	EIF2AK3	2	88857359	Frame_Shift_Del	DEL	A	TCGA-CN-A63W-01A-11D-A30E-08	14259122	88857359	154342014	55	23128											
ZAP70	7535	broad.mit.edu	37	chr2	98341614	98341614	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggtggagaagctcattgcTacgacggcccacgagcggat	10	6	14	11	4	1	1	1	0	0	1	1	5	1	2	1	4	4	2	1	4	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:98341614T>A	ENST00000264972.5	+	4	677	c.462T>A	c.(460-462)gcT>gcA	p.A154A	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.A28A	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	154	Interdomain A.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AGCTCATTGCTACGACGGCCC	0.642													23	29					0	0	0	0	A	98341614	T	A	98341614	2	1	121	1	0	0	0	0	0	0	0	1	17610	1509	53	5		5	ZAP70	2	98341614	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	9484255	98341614	144857759	56	23129											
AFF3	3899	broad.mit.edu	37	chr2	100209883	100209883	+	Missense_Mutation	SNP	G	G	A																															gaagttcgttccggccaaagGggaccagtgtgtagaactgc																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:100209883G>A	ENST00000317233.4	-	14	2475	c.2240C>T	c.(2239-2241)cCc>cTc	p.P747L	AFF3_ENST00000409579.1_Missense_Mutation_p.P772L|AFF3_ENST00000409236.1_Missense_Mutation_p.P747L|AFF3_ENST00000356421.2_Missense_Mutation_p.P772L	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	747					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCGGCCAAAGGGGACCAGTGT	0.577													29	38					0	0	0	0	A	100209883	G	A	100209883	3	1	121	1	0	0	0	0	1	0	0	0	358	1232	43	4	1484	4	AFF3	2	100209883	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1868269	100209883	142989490	57	23130	192	2									
AFF3	3899	broad.mit.edu	37	chr2	100209885	100209885	+	Silent	SNP	G	G	A																															agttcgttccggccaaagggGaccagtgtgtagaactgctc																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:100209885G>A	ENST00000317233.4	-	14	2473	c.2238C>T	c.(2236-2238)gtC>gtT	p.V746V	AFF3_ENST00000409579.1_Silent_p.V771V|AFF3_ENST00000409236.1_Silent_p.V746V|AFF3_ENST00000356421.2_Silent_p.V771V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	746					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGCCAAAGGGGACCAGTGTGT	0.587													29	37					0	0	0	0	A	100209885	G	A	100209885	2	1	121	1	0	0	0	0	0	0	0	1	358	1161	41	2		2	AFF3	2	100209885	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2	100209885	142989488	58	23131	192	2									
CNTNAP5	129684	broad.mit.edu	37	chr2	125192192	125192192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatggggtcctgttccatGgagaaggtcagcgtggagac	9	8	17	7	1	1	3	1	0	0	3	3	6	3	3	2	5	1	1	2	5	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:125192192G>A	ENST00000431078.1	+	5	1025	c.661G>A	c.(661-663)Gga>Aga	p.G221R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	221	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTGTTCCATGGAGAAGGTCA	0.507													19	20					0	0	0	0	A	125192192	G	A	125192192	3	1	121	1	0	0	0	0	1	0	0	0	3680	1349	47	4	679	4	CNTNAP5	2	125192192	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	24982307	125192192	118007181	59	23132											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530379	125530379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttccggtttcagctcCttcagagatcacctttgcca	6	15	6	14	1	3	1	3	0	0	1	6	2	6	1	5	1	2	2	5	1	0	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:125530379C>A	ENST00000431078.1	+	17	2898	c.2534C>A	c.(2533-2535)cCt>cAt	p.P845H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	845	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTTTCAGCTCCTTCAGAGATC	0.473													14	27					0.0167234	0.017412	1	0	A	125530379	C	A	125530379	3	1	121	1	0	0	0	0	1	0	0	0	3680	681	24	4	2600	4	CNTNAP5	2	125530379	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	338187	125530379	117668994	60	23133											
SPOPL	339745	broad.mit.edu	37	chr2	139316872	139316872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatctccagtttttaacGccatgtttgaacatgaaatg	11	14	7	9	2	1	2	0	2	1	0	3	3	1	2	2	0	2	2	2	0	3	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:139316872G>T	ENST00000280098.4	+	7	1058	c.679G>T	c.(679-681)Gcc>Tcc	p.A227S		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	227	BTB.					nucleus		p.A227T(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AGTTTTTAACGCCATGTTTGA	0.289													9	19					0.0477658	0.0491543	1	0	T	139316872	G	T	139316872	3	4	121	1	0	0	0	0	1	0	0	0	15175	1087	38	3	701	3	SPOPL	2	139316872	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	13786493	139316872	103882501	61	23134											
EPC2	26122	broad.mit.edu	37	chr2	149528848	149528848	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctactaaatttacaggacAgtgatagtgaagaatgtacc	15	10	10	6	0	0	3	0	2	0	1	0	4	0	4	1	2	3	2	1	2	8	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:149528848A>T	ENST00000258484.6	+	10	1646	c.1612A>T	c.(1612-1614)Agt>Tgt	p.S538C		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	538					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TTTACAGGACAGTGATAGTGA	0.378													10	87					0	0	0	0	T	149528848	A	T	149528848	3	4	121	1	0	0	0	0	1	0	0	0	5199	188	7	5	1650	5	EPC2	2	149528848	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	10211976	149528848	93670525	62	23135											
CYTIP	9595	broad.mit.edu	37	chr2	158272365	158272365	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttactgatgctccggtTcctccttgaagatgacctcc	6	13	10	12	1	0	4	0	3	0	1	4	4	4	4	5	2	2	3	5	2	2	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:158272365T>C	ENST00000264192.3	-	8	1025	c.904A>G	c.(904-906)Aac>Gac	p.N302D	CYTIP_ENST00000540637.1_Missense_Mutation_p.N196D	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	302	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ATGCTCCGGTTCCTCCTTGAA	0.552													24	40					0	0	0	0	C	158272365	T	C	158272365	3	2	121	1	0	0	0	0	1	0	0	0	4239	1783	62	5	179	5	CYTIP	2	158272365	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	8743517	158272365	84927008	63	23136											
CSRNP3	80034	broad.mit.edu	37	chr2	166532981	166532981	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctctgctgcgtgcctctGgagtgaaaaagattgacgtg	9	10	14	8	2	2	3	0	2	2	1	2	5	2	4	1	1	4	2	1	1	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:166532981G>T	ENST00000314499.7	+	6	944	c.568G>T	c.(568-570)Gga>Tga	p.G190*	CSRNP3_ENST00000342316.4_Nonsense_Mutation_p.G190*|CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.G222*	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	190					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCGTGCCTCTGGAGTGAAAAA	0.493													71	108					6.00099e-30	8.68263e-30	1	0	T	166532981	G	T	166532981	4	4	121	1	0	0	0	0	0	1	0	0	3997	1349	47	4	578	4	CSRNP3	2	166532981	Nonsense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	8260616	166532981	76666392	64	23137											
SCN7A	6332	broad.mit.edu	37	chr2	167298000	167298000	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaaggtctctacccacTctccacagagaattcggaac	12	7	6	16	1	2	1	0	0	2	1	5	3	2	2	3	2	2	0	3	2	4	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:167298000T>C	ENST00000409855.1	-	14	2189	c.2063A>G	c.(2062-2064)gAg>gGg	p.E688G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	688					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTCTACCCACTCTCCACAGAG	0.448													20	28					0	0	0	0	C	167298000	T	C	167298000	3	2	121	1	0	0	0	0	1	0	0	0	14010	1551	54	5	3033	5	SCN7A	2	167298000	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	765019	167298000	75901373	65	23138											
XIRP2	129446	broad.mit.edu	37	chr2	168106940	168106940	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtaaaagaagaaataaCacatattaaaactcaagcgg	24	6	6	5	1	1	2	1	0	0	2	1	2	1	2	0	1	3	1	0	1	11	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:168106940C>G	ENST00000409195.1	+	9	9127	c.9038C>G	c.(9037-9039)aCa>aGa	p.T3013R	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3013R|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2791R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2838				T -> A (in Ref. 8; CAD91154).	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						GAAGAAATAACACATATTAAA	0.348													28	54					0	0	0	0	G	168106940	C	G	168106940	3	3	121	1	0	0	0	0	1	0	0	0	17526	478	17	4	9068	4	XIRP2	2	168106940	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	808940	168106940	75092433	66	23139											
HOXD4	3233	broad.mit.edu	37	chr2	177017513	177017513	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcaagatctggttccagaAccggaggatgaagtggaaaa	15	7	13	6	1	2	3	1	1	1	2	3	7	3	6	2	4	1	1	2	4	5	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:177017513A>T	ENST00000306324.3	+	2	1023	c.611A>T	c.(610-612)aAc>aTc	p.N204I	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TGGTTCCAGAACCGGAGGATG	0.502													25	52					0	0	0	0	T	177017513	A	T	177017513	3	4	121	1	0	0	0	0	1	0	0	0	7374	43	2	5	617	5	HOXD4	2	177017513	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	8910573	177017513	66181860	67	23140											
HNRNPA3	220988	broad.mit.edu	37	chr2	178080842	178080842	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatagaagttatggaagAcaggcagagtggaaaaaaga	20	5	12	4	0	0	4	0	0	0	4	0	6	0	6	1	3	1	2	1	3	8	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:178080842A>T	ENST00000411529.2	+	4	464	c.413A>T	c.(412-414)gAc>gTc	p.D138V	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.D160V|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.D160V	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	160	RRM 2.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GTTATGGAAGACAGGCAGAGT	0.308													16	18					0	0	0	0	T	178080842	A	T	178080842	3	4	121	1	0	0	0	0	1	0	0	0	7310	275	10	5	493	5	HNRNPA3	2	178080842	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	1063329	178080842	65118531	68	23141											
TTN	7273	broad.mit.edu	37	chr2	179449435	179449435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catctttggagatgtgagagGctctgaaatgccaaatcggt	11	11	12	7	1	2	3	0	2	2	2	3	5	2	3	1	3	1	1	1	3	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:179449435G>T	ENST00000589042.1	-	310	65157	c.64933C>A	c.(64933-64935)Cct>Act	p.P21645T	TTN_ENST00000359218.5_Missense_Mutation_p.P12705T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P20004T|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12772T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P19077T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P12580T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20004	Fibronectin type-III 57.						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)			GATGTGAGAGGCTCTGAAATG	0.433													72	141					9.35569e-46	1.37996e-45	1	0	T	179449435	G	T	179449435	3	4	121	1	0	0	0	0	1	0	0	0	16831	1203	42	4	43258	4	TTN	2	179449435	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1368593	179449435	63749938	69	23142											
TTN	7273	broad.mit.edu	37	chr2	179475027	179475027	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgaagaattggggttcCaccatcaaattctggaggtt	13	12	10	6	0	2	2	1	1	1	1	3	3	3	3	2	4	0	2	2	4	4	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:179475027C>A	ENST00000589042.1	-	271	51450	c.51226G>T	c.(51226-51228)Gga>Tga	p.G17076*	TTN_ENST00000359218.5_Nonsense_Mutation_p.G8136*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.G15435*|TTN_ENST00000342175.6_Nonsense_Mutation_p.G8203*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.G14508*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.G8011*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15435	Ig-like 102.						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)			ATTGGGGTTCCACCATCAAAT	0.423													14	105					3.27435e-08	3.89839e-08	1	0	A	179475027	C	A	179475027	4	1	121	1	0	0	0	0	0	1	0	0	16831	603	21	4	56835	4	TTN	2	179475027	Nonsense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	25592	179475027	63724346	70	23143											
TTN	7273	broad.mit.edu	37	chr2	179535851	179535851	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttttcgaggaacaactttAgtgggcggtttttttggagg	7	16	13	5	2	1	0	0	0	1	0	2	3	1	2	0	5	2	1	0	5	3	7			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:179535851A>T	ENST00000589042.1	-	156	35498	c.35274T>A	c.(35272-35274)acT>acA	p.T11758T	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.T11384T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.T10457T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9876	Glu-rich.|Pro-rich.						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)			GAACAACTTTAGTGGGCGGTT	0.363													11	16					0	0	0	0	T	179535851	A	T	179535851	2	4	121	1	0	0	0	0	0	0	0	1	16831	407	15	5		5	TTN	2	179535851	Silent	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	60824	179535851	63663522	71	23144											
TTN	7273	broad.mit.edu	37	chr2	179644007	179644007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaagtgacacccatcccCtcaagaattctataattctt	14	12	4	11	0	3	3	1	2	2	1	4	3	4	3	3	0	0	0	3	0	6	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:179644007C>A	ENST00000589042.1	-	23	4136	c.3912G>T	c.(3910-3912)gaG>gaT	p.E1304D	TTN_ENST00000359218.5_Missense_Mutation_p.E1258D|TTN_ENST00000360870.5_Missense_Mutation_p.E1304D|TTN_ENST00000591111.1_Missense_Mutation_p.E1304D|TTN_ENST00000342175.6_Missense_Mutation_p.E1258D|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E1304D|TTN_ENST00000460472.2_Missense_Mutation_p.E1258D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1304	Ig-like 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)			CACCCATCCCCTCAAGAATTC	0.348													13	26					0.000151284	0.000165975	1	0	A	179644007	C	A	179644007	3	1	121	1	0	0	0	0	1	0	0	0	16831	680	24	4	107436	4	TTN	2	179644007	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	108156	179644007	63555366	72	23145											
COL3A1	1281	broad.mit.edu	37	chr2	189855056	189855056	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaaaggtccagctgggatAcctggattccctggtatgaa	11	10	11	9	0	1	1	1	1	0	0	3	3	3	3	3	4	2	2	3	4	4	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:189855056A>T	ENST00000304636.3	+	10	938	c.768A>T	c.(766-768)atA>atT	p.I256I	COL3A1_ENST00000317840.5_Silent_p.I256I	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	256	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CAGCTGGGATACCTGGATTCC	0.343													12	9					0	0	0	0	T	189855056	A	T	189855056	2	4	121	1	0	0	0	0	0	0	0	1	3718	381	14	5		5	COL3A1	2	189855056	Silent	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	10211049	189855056	53344317	73	23146											
COL3A1	1281	broad.mit.edu	37	chr2	189868855	189868855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagggatcgcctggtGcccagggcccaccagtaagt	10	5	15	11	1	0	1	0	0	0	1	1	4	0	2	4	3	1	1	4	3	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:189868855G>T	ENST00000304636.3	+	39	2979	c.2809G>T	c.(2809-2811)Gcc>Tcc	p.A937S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	937	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ATCGCCTGGTGCCCAGGGCCC	0.473													7	17					1.12685e-05	1.25705e-05	1	0	T	189868855	G	T	189868855	3	4	121	1	0	0	0	0	1	0	0	0	3718	1319	46	4	2963	4	COL3A1	2	189868855	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	13799	189868855	53330518	74	23147											
STAT4	6775	broad.mit.edu	37	chr2	191929664	191929664	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgtctcatggatgatttgGgtcattttactgagagcctc	7	16	10	8	0	3	2	2	2	2	1	5	4	3	3	1	2	2	0	1	2	1	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:191929664G>T	ENST00000392320.2	-	8	965	c.651C>A	c.(649-651)acC>acA	p.T217T	STAT4_ENST00000358470.4_Silent_p.T217T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	217					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GGATGATTTGGGTCATTTTAC	0.433													58	88					2.22609e-26	3.19473e-26	1	0	T	191929664	G	T	191929664	2	4	121	1	0	0	0	0	0	0	0	1	15357	1219	43	4		4	STAT4	2	191929664	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2060809	191929664	51269709	75	23148											
BOLL	66037	broad.mit.edu	37	chr2	198621153	198621153	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaagactaatacataccTctggaactgaagtttccatc	13	13	5	10	0	1	2	0	1	1	1	3	3	2	3	2	1	3	1	2	1	6	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:198621153T>G	ENST00000321801.7	-	9	1334	c.765_splice	c.e9+1	p.E255_splice	AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000392296.4_Splice_Site_p.E243_splice|BOLL_ENST00000433157.1_Splice_Site_p.E243_splice|BOLL_ENST00000282278.8_Splice_Site_p.E134_splice|BOLL_ENST00000430004.1_Splice_Site_p.E265_splice	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	243					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						AATACATACCTCTGGAACTGA	0.363													8	16					0	0	0	0	G	198621153	T	G	198621153	5	3	121	1	0	0	0	0	0	0	1	0	1494	1565	54	5	135	5	BOLL	2	198621153	Splice_Site	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	6691489	198621153	44578220	76	23149											
PPIL3	53938	broad.mit.edu	37	chr2	201747114	201747114	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccttgatattcctatgaaaTatacagccattgtagtaatt	13	15	5	8	0	0	2	0	2	0	0	1	2	1	2	3	0	2	2	3	0	7	10			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:201747114T>C	ENST00000392283.4	-	4	391	c.123A>G	c.(121-123)atA>atG	p.I41M	PPIL3_ENST00000465823.1_Intron|PPIL3_ENST00000286175.8_Intron|PPIL3_ENST00000409449.1_Intron|PPIL3_ENST00000409361.1_Intron	NM_130906.2	NP_570981.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3	41	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(1)|lung(2)	3						TCCTATGAAATATACAGCCAT	0.358													45	46					0	0	0	0	C	201747114	T	C	201747114	3	2	121	1	0	0	0	0	1	0	0	0	12404	1396	49	5	378	5	PPIL3	2	201747114	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	3125961	201747114	41452259	77	23150											
GPR1	2825	broad.mit.edu	37	chr2	207041089	207041089	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggttcaagcaactattgaGgaatgccaaaccagtggaga	14	7	13	7	0	1	2	1	1	0	1	1	4	1	3	2	4	4	2	2	4	5	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:207041089G>C	ENST00000407325.2	-	3	1245	c.883C>G	c.(883-885)Ctc>Gtc	p.L295V	GPR1_ENST00000437420.1_Missense_Mutation_p.L295V	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	295						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CAACTATTGAGGAATGCCAAA	0.468													8	25					0	0	0	0	C	207041089	G	C	207041089	3	2	121	1	0	0	0	0	1	0	0	0	6670	1000	35	4	188	4	GPR1	2	207041089	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	5293975	207041089	36158284	78	23151											
CPO	130749	broad.mit.edu	37	chr2	207814372	207814372	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aacacagacaagagattgtgGacaagtcagtgagtccatgg	15	7	12	7	0	1	3	1	1	0	2	2	5	2	4	1	2	1	0	1	2	3	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:207814372G>C	ENST00000272852.3	+	2	146	c.100G>C	c.(100-102)Gac>Cac	p.D34H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	34					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		AGAGATTGTGGACAAGTCAGT	0.498													22	12					0	0	0	0	C	207814372	G	C	207814372	3	2	121	1	0	0	0	0	1	0	0	0	3850	1174	41	2	106	2	CPO	2	207814372	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	773283	207814372	35385001	79	23152											
BARD1	580	broad.mit.edu	37	chr2	215674167	215674167	+	Frame_Shift_Del	DEL	G	G	-																															gcgcagcagcttctccaggcGgtcgagcgcggcgcgactgt																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:215674167delG	ENST00000260947.4	-	1	261	c.127delC	c.(127-129)gcfs	p.R43fs	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_5'UTR	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	43	Interaction with BRCA1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTCCAGGCGGTCGAGCGCG	0.701									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	3	---	---	---	---					-	215674167	G	-	215674167	7	5	121	1	0	1	0	1	0	0	0	0	1316	1116	39	0	2250	0	BARD1	2	215674167	Frame_Shift_Del	DEL	G	TCGA-CN-A63W-01A-11D-A30E-08	7859795	215674167	27525206	80	23153											
GRM7	2917	broad.mit.edu	37	chr3	7456772	7456772	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaatgtatggtttgccGaatactgggaggaaaacttc	14	10	12	5	1	0	1	0	0	0	1	1	5	0	3	1	3	3	2	1	3	7	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:7456772G>T	ENST00000486284.1	+	5	1370	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	GRM7_ENST00000402647.2_Nonsense_Mutation_p.E366*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.E366*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.E366*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.E366*	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	366					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			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)	ATGGTTTGCCGAATACTGGGA	0.408													15	11					8.60227e-14	1.12231e-13	1	0	T	7456772	G	T	7456772	4	4	121	1	0	0	0	0	0	1	0	0	6852	1059	37	3	1114	3	GRM7	3	7456772	Nonsense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08		7456772	190565658	81	23154											
MTMR14	64419	broad.mit.edu	37	chr3	9695347	9695347	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctggagctgtttggccgaGactactgtttcagcgtgatt	6	14	13	8	2	2	2	1	1	1	1	2	4	2	3	1	2	3	3	1	2	1	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:9695347G>C	ENST00000296003.4	+	2	324	c.202G>C	c.(202-204)Gac>Cac	p.D68H	MTMR14_ENST00000351233.5_Missense_Mutation_p.D68H|MTMR14_ENST00000353332.5_Missense_Mutation_p.D68H|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	68						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GTTTGGCCGAGACTACTGTTT	0.498													10	40					0	0	0	0	C	9695347	G	C	9695347	3	2	121	1	0	0	0	0	1	0	0	0	10012	942	33	2	208	2	MTMR14	3	9695347	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2238575	9695347	188327083	82	23155											
SCN10A	6336	broad.mit.edu	37	chr3	38805036	38805036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaatgctctaagaactctGaatgtccgcaggcctgagat	11	12	9	9	1	2	3	0	2	2	2	3	4	3	3	2	1	2	2	2	1	4	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:38805036G>A	ENST00000449082.2	-	5	650	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	217					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TAAGAACTCTGAATGTCCGCA	0.458													30	19					0	0	0	0	A	38805036	G	A	38805036	2	1	121	1	0	0	0	0	0	0	0	1	13999	1281	45	2		2	SCN10A	3	38805036	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	29109689	38805036	159217394	83	23156											
PRSS50	29122	broad.mit.edu	37	chr3	46754406	46754406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcacatagcagaacttctcCctgtgggtgtcctccgcaca	8	10	8	15	1	2	1	1	0	1	1	5	1	4	1	3	1	2	2	3	1	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:46754406C>T	ENST00000460241.1	-	10	2576	c.906G>A	c.(904-906)agG>agA	p.R302R	PRSS50_ENST00000315170.7_Silent_p.R302R			Q9UI38	TSP50_HUMAN	protease, serine, 50	302	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						AGAACTTCTCCCTGTGGGTGT	0.557													43	22					0	0	0	0	T	46754406	C	T	46754406	2	4	121	1	0	0	0	0	0	0	0	1	12710	622	22	4		4	PRSS50	3	46754406	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	7949370	46754406	151268024	84	23157											
COL8A1	1295	broad.mit.edu	37	chr3	99513367	99513367	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggacttcctggcattGggaagccaggtgggccaggg	7	8	16	10	0	1	0	1	0	0	0	2	2	2	2	3	6	1	1	3	6	1	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:99513367G>C	ENST00000261037.3	+	5	1002	c.622G>C	c.(622-624)Ggg>Cgg	p.G208R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G208R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	208	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TCCTGGCATTGGGAAGCCAGG	0.587													9	33					0	0	0	0	C	99513367	G	C	99513367	3	2	121	1	0	0	0	0	1	0	0	0	3735	1348	47	4	628	4	COL8A1	3	99513367	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	52758961	99513367	98509063	85	23158											
CCDC54	84692	broad.mit.edu	37	chr3	107097252	107097252	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttagaagaattcatccAgtggcttctttctaggccaa	12	12	8	9	0	3	2	1	0	2	2	4	2	4	2	2	2	0	2	2	2	6	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:107097252A>C	ENST00000261058.1	+	1	1065	c.818A>C	c.(817-819)cAg>cCg	p.Q273P		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	273										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GAATTCATCCAGTGGCTTCTT	0.438													37	15					0	0	0	0	C	107097252	A	C	107097252	3	2	121	1	0	0	0	0	1	0	0	0	2851	188	7	5	820	5	CCDC54	3	107097252	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	7583885	107097252	90925178	86	23159											
GOLGB1	2804	broad.mit.edu	37	chr3	121400619	121400619	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgcttttgtcttatcttGatactcctgaagttgagcct	9	17	7	8	0	2	3	0	3	2	0	3	3	3	3	2	0	3	2	2	0	4	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:121400619G>C	ENST00000393667.3	-	15	8898	c.8788C>G	c.(8788-8790)Caa>Gaa	p.Q2930E	GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q2925E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2925					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTCTTATCTTGATACTCCTGA	0.408													14	33					0	0	0	0	C	121400619	G	C	121400619	3	2	121	1	0	0	0	0	1	0	0	0	6613	1299	45	2	1038	2	GOLGB1	3	121400619	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	14303367	121400619	76621811	87	23160											
PARP15	165631	broad.mit.edu	37	chr3	122345754	122345754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcatcacaacattccaccCcatcattaaaaacagttaaa	17	10	1	13	0	3	0	3	0	1	0	5	0	4	0	3	0	2	1	3	0	6	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:122345754C>A	ENST00000464300.2	+	9	1378	c.1312C>A	c.(1312-1314)Cca>Aca	p.P438T	PARP15_ENST00000310366.4_Missense_Mutation_p.P204T|PARP15_ENST00000493645.1_Intron|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000465304.1_3'UTR	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	416	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ACATTCCACCCCATCATTAAA	0.348													17	22					1.99824e-07	2.32689e-07	1	0	A	122345754	C	A	122345754	3	1	121	1	0	0	0	0	1	0	0	0	11530	623	22	4	1415	4	PARP15	3	122345754	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	945135	122345754	75676676	88	23161											
KBTBD12	166348	broad.mit.edu	37	chr3	127682102	127682102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacgtggtggagatctacaaCccagatggggacttttggcg	9	9	15	8	2	1	2	0	0	1	2	1	5	1	3	1	5	2	0	1	5	2	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:127682102C>A	ENST00000405109.1	+	5	2030	c.1563C>A	c.(1561-1563)aaC>aaA	p.N521K	KBTBD12_ENST00000407609.3_Missense_Mutation_p.N128K|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Missense_Mutation_p.N521K|KBTBD12_ENST00000343941.4_Missense_Mutation_p.N96K			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	521										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AGATCTACAACCCAGATGGGG	0.547													5	3					0.00198382	0.00210681	1	0	A	127682102	C	A	127682102	3	1	121	1	0	0	0	0	1	0	0	0	8044	506	18	4	1577	4	KBTBD12	3	127682102	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	5336348	127682102	70340328	89	23162											
H1FOO	132243	broad.mit.edu	37	chr3	129270168	129270168	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatccaaagtgtccagccaGagggctgaagcttagggcca	11	7	12	11	0	1	2	1	1	0	1	3	2	3	2	4	2	2	2	4	2	3	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:129270168G>C	ENST00000324382.2	+	5	1031	c.1026G>C	c.(1024-1026)caG>caC	p.Q342H	H1FOO_ENST00000503977.1_Missense_Mutation_p.Q203H	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	342					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						TGTCCAGCCAGAGGGCTGAAG	0.537													8	21					0	0	0	0	C	129270168	G	C	129270168	3	2	121	1	0	0	0	0	1	0	0	0	6972	933	33	2	1044	2	H1FOO	3	129270168	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1588066	129270168	68752262	90	23163											
NEK11	79858	broad.mit.edu	37	chr3	130748712	130748712	+	Frame_Shift_Del	DEL	G	G	-																															cagacaagaaagccaaacgaGgagaggaattgtaagtaaaa																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:130748712delG	ENST00000383366.4	+	3	453	c.160delG	c.(160-162)gafs	p.G54fs	NEK11_ENST00000510769.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000511262.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.G54fs|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000356918.4_Frame_Shift_Del_p.G54fs	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	54	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGCCAAACGAGGAGAGGAATT	0.418													23	21	---	---	---	---					-	130748712	G	-	130748712	7	5	121	1	0	1	0	1	0	0	0	0	10393	1001	35	0	162	0	NEK11	3	130748712	Frame_Shift_Del	DEL	G	TCGA-CN-A63W-01A-11D-A30E-08	1478544	130748712	67273718	91	23164											
CHST2	9435	broad.mit.edu	37	chr3	142840858	142840858	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctatggaggtcatctgcaaTagtatggctaagacgctgca	11	10	12	8	1	2	1	1	0	1	1	2	2	2	2	0	3	2	6	0	3	5	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:142840858T>A	ENST00000309575.3	+	2	2584	c.1200T>A	c.(1198-1200)aaT>aaA	p.N400K		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	400					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						TCATCTGCAATAGTATGGCTA	0.657													44	37					0	0	0	0	A	142840858	T	A	142840858	3	1	121	1	0	0	0	0	1	0	0	0	3433	1403	49	5	1202	5	CHST2	3	142840858	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	12092146	142840858	55181572	92	23165											
CHST2	9435	broad.mit.edu	37	chr3	142840969	142840969	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaccccgtcaagacactacgGagagtgtacgattttgtggg	10	9	13	9	3	1	2	1	0	0	2	1	5	1	2	2	2	2	1	2	2	3	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:142840969G>C	ENST00000309575.3	+	2	2695	c.1311G>C	c.(1309-1311)cgG>cgC	p.R437R		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	437					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						AGACACTACGGAGAGTGTACG	0.612													15	26					0	0	0	0	C	142840969	G	C	142840969	2	2	121	1	0	0	0	0	0	0	0	1	3433	1161	41	2		2	CHST2	3	142840969	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	111	142840969	55181461	93	23166											
PRKCI	5584	broad.mit.edu	37	chr3	169977769	169977769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttttaggagacccgtgtaCagtatcatctcagttggagt	9	15	10	7	1	2	1	2	0	1	1	3	3	2	2	1	2	1	3	1	2	3	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:169977769C>T	ENST00000295797.4	+	3	541	c.236C>T	c.(235-237)aCa>aTa	p.T79I		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	79	Interaction with PARD6A.|OPR.|Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GACCCGTGTACAGTATCATCT	0.323													17	41					0	0	0	0	T	169977769	C	T	169977769	3	4	121	1	0	0	0	0	1	0	0	0	12594	478	17	4	246	4	PRKCI	3	169977769	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	27136800	169977769	28044661	94	23167											
ECE2	9718	broad.mit.edu	37	chr3	183994271	183994271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accccgactgtctggcagatGgtggagtacaaacgggccac	10	6	13	12	2	1	1	0	0	1	1	1	3	1	2	3	4	2	2	3	4	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:183994271G>T	ENST00000404464.3	+	2	180	c.42G>T	c.(40-42)atG>atT	p.M14I	ECE2_ENST00000357474.5_Missense_Mutation_p.M14I|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	endothelin converting enzyme 2	0	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGGCAGATGGTGGAGTACA	0.687													11	9					1.58986e-06	1.81552e-06	1	0	T	183994271	G	T	183994271	3	4	121	1	0	0	0	0	1	0	0	0	4926	1348	47	4	828	4	ECE2	3	183994271	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	14016502	183994271	14028159	95	23168											
CCDC50	152137	broad.mit.edu	37	chr3	191074882	191074882	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatctactctagtatgcCgagattttgctgtcctggag	7	14	9	11	1	2	1	0	0	2	1	4	3	4	2	3	1	3	2	3	1	3	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:191074882C>G	ENST00000392455.3	+	2	653	c.55C>G	c.(55-57)Cga>Gga	p.R19G	CCDC50_ENST00000392456.3_Missense_Mutation_p.R19G	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	19						cytoplasm	protein binding	p.R19G(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TCTAGTATGCCGAGATTTTGC	0.378													14	16					0	0	0	0	G	191074882	C	G	191074882	3	3	121	1	0	0	0	0	1	0	0	0	2847	644	23	3	61	3	CCDC50	3	191074882	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	7080611	191074882	6947548	96	23169											
HRASLS	57110	broad.mit.edu	37	chr3	192980984	192980984	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcaacaactgtgaacattTtgtgacattgcttcgctatg	10	15	8	8	1	1	2	1	2	0	0	2	2	1	2	0	0	4	2	0	0	4	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:192980984T>C	ENST00000264735.2	+	3	774	c.680T>C	c.(679-681)tTt>tCt	p.F227S	HRASLS_ENST00000602513.1_Missense_Mutation_p.F122S	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	122										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|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;0.000159)		TGTGAACATTTTGTGACATTG	0.398													20	49					0	0	0	0	C	192980984	T	C	192980984	3	2	121	1	0	0	0	0	1	0	0	0	7399	1841	64	5	371	5	HRASLS	3	192980984	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	1906102	192980984	5041446	97	23170											
C4orf50	389197	broad.mit.edu	37	chr4	5961316	5961316	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaccgctgccaggcacGttccaggatcaagcgtggac	9	6	13	13	3	1	1	1	1	0	0	2	3	2	3	3	3	2	3	3	3	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:5961316G>C	ENST00000531445.1	-	7	2085	c.2039C>G	c.(2038-2040)aCg>aGg	p.T680R	C4orf50_ENST00000324058.5_Missense_Mutation_p.T206R			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	206										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGCCAGGCACGTTCCAGGATC	0.562													10	18					0	0	0	0	C	5961316	G	C	5961316	3	2	121	1	0	0	0	0	1	0	0	0	2297	1145	40	3	217	3	C4orf50	4	5961316	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08		5961316	185192960	98	23171											
CPZ	8532	broad.mit.edu	37	chr4	8602934	8602934	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctgcttcagcaccggtCatgggaggtggtggaggcca	8	7	15	11	1	2	0	2	0	0	0	2	2	2	2	3	6	3	2	3	6	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:8602934C>A	ENST00000382480.2	+	0	595				CPZ_ENST00000360986.4_Nonsense_Mutation_p.S69*|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000315782.6_Nonsense_Mutation_p.S58*	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z						proteolysis|Wnt receptor signaling pathway	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						CAGCACCGGTCATGGGAGGTG	0.647													8	35					1.76689e-08	2.11788e-08	1	0	A	8602934	C	A	8602934	1	1	121	1	0	0	0	0	0	0	0	0	3869	838	29	2		2	CPZ	4	8602934	Translation_Start_Site	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	2641618	8602934	182551342	99	23172											
SLIT2	9353	broad.mit.edu	37	chr4	20482397	20482397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcattcagggctctccggGacctggaagtgctgtaagta	8	9	15	9	1	2	0	1	0	1	0	3	2	2	2	2	4	1	5	2	4	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:20482397G>T	ENST00000504154.1	+	6	778	c.526G>T	c.(526-528)Gac>Tac	p.D176Y	SLIT2_ENST00000503823.1_Missense_Mutation_p.D176Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.D176Y|SLIT2_ENST00000503837.1_Missense_Mutation_p.D176Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	176					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGCTCTCCGGGACCTGGAAGT	0.438													21	53					4.26978e-12	5.46326e-12	1	0	T	20482397	G	T	20482397	3	4	121	1	0	0	0	0	1	0	0	0	14828	1174	41	2	548	2	SLIT2	4	20482397	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	11879463	20482397	170671879	100	23173											
PACRGL	133015	broad.mit.edu	37	chr4	20711341	20711341	+	Frame_Shift_Del	DEL	G	G	-																															agtaaaacacagattacagtGggaatgtcctcctgaaagtc																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:20711341delG	ENST00000360916.5	+	5	702	c.311delG	c.(310-312)tgfs	p.W104fs	PACRGL_ENST00000503585.1_Frame_Shift_Del_p.W104fs|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000513459.1_Intron|PACRGL_ENST00000295290.8_Frame_Shift_Del_p.W104fs|PACRGL_ENST00000507634.1_Frame_Shift_Del_p.W104fs|PACRGL_ENST00000502938.1_Intron	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	104				W -> R (in Ref. 1; BAC05381).			binding			endometrium(2)|lung(7)|prostate(1)	10						AGATTACAGTGGGAATGTCCT	0.294													15	21	---	---	---	---					-	20711341	G	-	20711341	7	5	121	1	0	1	0	1	0	0	0	0	11442	1357	47	0	325	0	PACRGL	4	20711341	Frame_Shift_Del	DEL	G	TCGA-CN-A63W-01A-11D-A30E-08	228944	20711341	170442935	101	23174											
LIMCH1	22998	broad.mit.edu	37	chr4	41615637	41615637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggctctcgctctcggcAgacgccttcaccagatgtag	6	11	10	14	3	3	2	1	0	2	2	5	2	3	2	2	2	0	4	2	2	1	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:41615637A>G	ENST00000313860.7	+	7	695	c.641A>G	c.(640-642)cAg>cGg	p.Q214R	LIMCH1_ENST00000509454.1_Missense_Mutation_p.Q62R|LIMCH1_ENST00000514096.1_Missense_Mutation_p.Q67R|LIMCH1_ENST00000509638.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.Q60R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Q60R|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Q60R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	214					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CGCTCTCGGCAGACGCCTTCA	0.537													13	29					0	0	0	0	G	41615637	A	G	41615637	3	3	121	1	0	0	0	0	1	0	0	0	8851	188	7	5	695	5	LIMCH1	4	41615637	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	20904296	41615637	149538639	102	23175											
GABRA4	2557	broad.mit.edu	37	chr4	46973106	46973106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaattgcaattaccaaataCagtcctagcgggaactgatt	14	11	8	8	1	0	2	0	2	0	0	1	3	1	3	2	1	5	1	2	1	7	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:46973106C>A	ENST00000264318.3	-	7	1850	c.868G>T	c.(868-870)Gta>Tta	p.V290L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	290					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTACCAAATACAGTCCTAGCG	0.318													7	23					0.0293803	0.0303521	1	0	A	46973106	C	A	46973106	3	1	121	1	0	0	0	0	1	0	0	0	6211	478	17	4	808	4	GABRA4	4	46973106	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	5357469	46973106	144181170	103	23176											
ATP10D	57205	broad.mit.edu	37	chr4	47548772	47548772	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagttcataatgggcctttgGgaaataagccctcaaatcat	13	11	8	9	0	3	0	3	0	0	0	3	1	3	1	2	2	1	1	2	2	4	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:47548772G>C	ENST00000273859.3	+	10	1797	c.1528G>C	c.(1528-1530)Gga>Cga	p.G510R	ATP10D_ENST00000504445.1_Missense_Mutation_p.G495R	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	510					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGGGCCTTTGGGAAATAAGCC	0.483													24	35					0	0	0	0	C	47548772	G	C	47548772	3	2	121	1	0	0	0	0	1	0	0	0	1122	1233	43	4	1562	4	ATP10D	4	47548772	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	575666	47548772	143605504	104	23177											
CSN1S1	1446	broad.mit.edu	37	chr4	70808271	70808271	+	Frame_Shift_Del	DEL	G	G	-																															caggagcaaattcgcagaatGaatgaaaacagccatgtcca																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:70808271delG	ENST00000246891.4	+	14	427	c.378delG	c.(376-378)atfs	p.M126fs	CSN1S1_ENST00000444405.3_Frame_Shift_Del_p.M117fs|CSN1S1_ENST00000507763.1_Frame_Shift_Del_p.M117fs|CSN1S1_ENST00000505782.1_Frame_Shift_Del_p.M110fs|CSN1S1_ENST00000507772.1_Frame_Shift_Del_p.M118fs	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	126						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TTCGCAGAATGAATGAAAACA	0.318													2	4	---	---	---	---					-	70808271	G	-	70808271	7	5	121	1	0	1	0	1	0	0	0	0	3979	1290	45	0	428	0	CSN1S1	4	70808271	Frame_Shift_Del	DEL	G	TCGA-CN-A63W-01A-11D-A30E-08	23259499	70808271	120346005	105	23178											
CSN2	1447	broad.mit.edu	37	chr4	70823093	70823093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagcagaagggcttgaacagGcacagctctctgagggtagg	11	6	16	8	0	1	3	0	2	1	1	2	4	1	3	0	4	3	5	0	4	3	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:70823093G>A	ENST00000353151.3	-	5	585	c.574C>T	c.(574-576)Cct>Tct	p.P192S		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	192					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GCTTGAACAGGCACAGCTCTC	0.557													9	15					0	0	0	0	A	70823093	G	A	70823093	3	1	121	1	0	0	0	0	1	0	0	0	3980	1203	42	4	114	4	CSN2	4	70823093	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	14822	70823093	120331183	106	23179											
ODAM	54959	broad.mit.edu	37	chr4	71068474	71068474	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattctcattctctgtagtCaacaggagaagagataccat	13	12	7	9	0	4	2	3	0	2	2	6	4	4	2	1	1	2	1	1	1	4	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:71068474C>T	ENST00000396094.2	+	9	698	c.648_splice	c.e9-1	p.S217_splice		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	217					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCTCTGTAGTCAACAGGAGAA	0.388													5	8					0	0	0	0	T	71068474	C	T	71068474	5	4	121	1	0	0	0	0	0	0	1	0	10895	840	29	2	684	2	ODAM	4	71068474	Splice_Site	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	245381	71068474	120085802	107	23180											
PROL1	58503	broad.mit.edu	37	chr4	71275771	71275771	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaaaagtttttggcaaaaActctttgccatttttggttg	10	19	7	5	0	1	0	0	0	1	0	1	0	1	0	1	2	2	3	1	2	4	8			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:71275771A>T	ENST00000399575.2	+	3	900	c.726A>T	c.(724-726)aaA>aaT	p.K242N		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	242					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTTGGCAAAAACTCTTTGCCA	0.378													8	25					0	0	0	0	T	71275771	A	T	71275771	3	4	121	1	0	0	0	0	1	0	0	0	12634	40	2	5	732	5	PROL1	4	71275771	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	207297	71275771	119878505	108	23181											
ENAM	10117	broad.mit.edu	37	chr4	71509351	71509351	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatataatacagcttctacTatgccaccacctatagagag	14	11	5	11	0	2	1	1	0	1	1	2	2	2	1	3	0	4	1	3	0	7	8			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:71509351T>C	ENST00000396073.3	+	9	2489	c.2208T>C	c.(2206-2208)acT>acC	p.T736T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	736					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAGCTTCTACTATGCCACCAC	0.428													16	52					0	0	0	0	C	71509351	T	C	71509351	2	2	121	1	0	0	0	0	0	0	0	1	5150	1509	53	5		5	ENAM	4	71509351	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	233580	71509351	119644925	109	23182											
GRSF1	2926	broad.mit.edu	37	chr4	71691068	71691068	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctcatgggtctcaaaGtgcacatcagcttctccagt	9	11	8	13	0	4	0	3	0	2	0	7	0	5	0	2	1	2	3	2	1	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:71691068G>A	ENST00000254799.6	-	8	1455	c.1338C>T	c.(1336-1338)caC>caT	p.H446H	GRSF1_ENST00000502323.1_Silent_p.H284H|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Silent_p.H284H|GRSF1_ENST00000545193.1_Silent_p.H328H	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	446	RRM 3.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GGGTCTCAAAGTGCACATCAG	0.478													11	12					0	0	0	0	A	71691068	G	A	71691068	2	1	121	1	0	0	0	0	0	0	0	1	6859	1020	36	4		4	GRSF1	4	71691068	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	181717	71691068	119463208	110	23183											
RASGEF1B	153020	broad.mit.edu	37	chr4	82366944	82366944	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgaggcgattaaaccattCcacgtaagcttctaagtttc	11	12	8	10	2	1	1	0	1	1	0	3	2	2	1	2	1	2	4	2	1	4	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:82366944C>A	ENST00000509081.1	-	7	996	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	RASGEF1B_ENST00000335927.7_Nonsense_Mutation_p.E218*|RASGEF1B_ENST00000264400.2_Nonsense_Mutation_p.E260*			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	260	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TTAAACCATTCCACGTAAGCT	0.353													6	25					0.248553	0.249965	1	0	A	82366944	C	A	82366944	4	1	121	1	0	0	0	0	0	1	0	0	13152	864	30	2	675	2	RASGEF1B	4	82366944	Nonsense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	10675876	82366944	108787332	111	23184											
MAPK10	5602	broad.mit.edu	37	chr4	87019718	87019718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttttgtggcgaaccatttctCccataatgcatcccacagac	10	12	6	13	1	1	1	0	0	1	1	3	2	2	1	3	1	2	1	3	1	2	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:87019718C>T	ENST00000395169.3	-	9	1367	c.647G>A	c.(646-648)gGa>gAa	p.G216E	MAPK10_ENST00000395166.1_Missense_Mutation_p.G216E|MAPK10_ENST00000359221.3_Missense_Mutation_p.G254E|MAPK10_ENST00000361569.2_Missense_Mutation_p.G254E|MAPK10_ENST00000395160.3_Missense_Mutation_p.G109E|MAPK10_ENST00000395161.2_Missense_Mutation_p.G254E|MAPK10_ENST00000395157.3_Missense_Mutation_p.G109E|MAPK10_ENST00000449047.2_Intron	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	254	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AACCATTTCTCCCATAATGCA	0.413													21	29					0	0	0	0	T	87019718	C	T	87019718	3	4	121	1	0	0	0	0	1	0	0	0	9341	855	30	2	662	2	MAPK10	4	87019718	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	4652774	87019718	104134558	112	23185											
PTPN13	5783	broad.mit.edu	37	chr4	87726497	87726497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actaaggaaaacagaaggaaGaacagatataaaaatatact	24	6	7	4	0	0	3	0	0	0	3	0	5	0	5	0	2	3	0	0	2	12	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:87726497G>C	ENST00000436978.1	+	44	7215	c.6735G>C	c.(6733-6735)aaG>aaC	p.K2245N	PTPN13_ENST00000411767.2_Missense_Mutation_p.K2240N|PTPN13_ENST00000316707.6_Missense_Mutation_p.K2049N|PTPN13_ENST00000511467.1_Missense_Mutation_p.K2245N|PTPN13_ENST00000427191.2_Missense_Mutation_p.K2221N	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2240	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAGAAGGAAGAACAGATATA	0.289													5	29					0	0	0	0	C	87726497	G	C	87726497	3	2	121	1	0	0	0	0	1	0	0	0	12862	933	33	2	6905	2	PTPN13	4	87726497	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	706779	87726497	103427779	113	23186											
ATOH1	474	broad.mit.edu	37	chr4	94750208	94750208	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgcaactttgcaggcgaGagagcatcccgtctacccgc	9	7	10	15	3	1	1	0	0	1	1	2	3	2	1	3	1	5	3	3	1	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:94750208G>C	ENST00000306011.3	+	1	167	c.131G>C	c.(130-132)aGa>aCa	p.R44T		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	44					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		TTGCAGGCGAGAGAGCATCCC	0.682													8	39					0	0	0	0	C	94750208	G	C	94750208	3	2	121	1	0	0	0	0	1	0	0	0	1116	942	33	2	133	2	ATOH1	4	94750208	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	7023711	94750208	96404068	114	23187											
ANK2	287	broad.mit.edu	37	chr4	114279309	114279309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagaaacagtggatgatgagGcagacttacttccagatgac	15	8	11	7	0	0	6	0	3	0	3	1	7	1	7	1	2	2	1	1	2	3	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:114279309G>A	ENST00000357077.4	+	38	9588	c.9535G>A	c.(9535-9537)Gca>Aca	p.A3179T	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A3146T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3146					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGATGATGAGGCAGACTTACT	0.478													20	22					0	0	0	0	A	114279309	G	A	114279309	3	1	121	1	0	0	0	0	1	0	0	0	621	1203	42	4	9750	4	ANK2	4	114279309	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	19529101	114279309	76874967	115	23188											
TRAM1L1	133022	broad.mit.edu	37	chr4	118006200	118006200	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccagactcgttaaacttgTtttgtttcgctttggtgaac	8	16	9	8	2	0	2	0	1	0	1	2	3	0	2	1	1	2	4	1	1	3	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:118006200T>G	ENST00000310754.4	-	1	536	c.350A>C	c.(349-351)aAc>aCc	p.N117T		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	117	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTAAACTTGTTTTGTTTCGC	0.368													4	32					0	0	0	0	G	118006200	T	G	118006200	3	3	121	1	0	0	0	0	1	0	0	0	16547	1725	60	5	763	5	TRAM1L1	4	118006200	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	3726891	118006200	73148076	116	23189											
LARP1B	55132	broad.mit.edu	37	chr4	129003419	129003419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagatgtcaacctgaagCaaataaaccaacacataaca	20	6	4	11	0	2	2	2	1	0	1	2	2	2	2	2	0	5	1	2	0	8	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:129003419C>T	ENST00000326639.6	+	5	528	c.317C>T	c.(316-318)gCa>gTa	p.A106V	LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000432347.2_Missense_Mutation_p.A106V|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000512292.1_Missense_Mutation_p.A106V|LARP1B_ENST00000441387.1_Missense_Mutation_p.A106V|LARP1B_ENST00000394288.3_Missense_Mutation_p.A106V|LARP1B_ENST00000427266.1_Missense_Mutation_p.A106V	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	106							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						CAACCTGAAGCAAATAAACCA	0.388													18	32					0	0	0	0	T	129003419	C	T	129003419	3	4	121	1	0	0	0	0	1	0	0	0	8682	710	25	4	327	4	LARP1B	4	129003419	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	10997219	129003419	62150857	117	23190											
ZNF827	152485	broad.mit.edu	37	chr4	146807290	146807290	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcactgaaaggtctctccCcgatcctggtgctgatgaac	8	10	11	12	1	1	3	0	3	1	0	4	4	3	3	3	3	2	2	3	3	2	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:146807290C>A	ENST00000508784.1	-	4	1514	c.1287G>T	c.(1285-1287)cgG>cgT	p.R429R	ZNF827_ENST00000379448.4_Silent_p.R429R|ZNF827_ENST00000513320.1_Silent_p.R79R			Q17R98	ZN827_HUMAN	zinc finger protein 827	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGGTCTCTCCCCGATCCTGGT	0.507													6	17					5.9392e-07	6.84103e-07	1	0	A	146807290	C	A	146807290	2	1	121	1	0	0	0	0	0	0	0	1	18273	610	22	4		4	ZNF827	4	146807290	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	17803871	146807290	44346986	118	23191											
RNF175	285533	broad.mit.edu	37	chr4	154649432	154649432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtaataacggagaacatccCccacatagacagaaaccgcc	16	4	8	13	2	0	3	0	0	0	3	1	4	1	3	4	2	3	1	4	2	5	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:154649432C>T	ENST00000347063.4	-	4	700	c.328G>A	c.(328-330)Ggg>Agg	p.G110R	RNF175_ENST00000506505.1_Intron|RNF175_ENST00000274068.4_Intron	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	110						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GAGAACATCCCCCACATAGAC	0.463													39	36					0	0	0	0	T	154649432	C	T	154649432	3	4	121	1	0	0	0	0	1	0	0	0	13548	623	22	4	682	4	RNF175	4	154649432	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	7842142	154649432	36504844	119	23192											
HPGD	3248	broad.mit.edu	37	chr4	175416710	175416710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcctcaccgctgctgagcGtgtgaatccaactatgccat	9	10	9	13	2	1	2	1	2	0	0	2	2	2	2	4	0	5	2	4	0	4	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:175416710G>A	ENST00000296522.6	-	5	933	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	HPGD_ENST00000541923.1_Missense_Mutation_p.R42C|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000296521.7_Missense_Mutation_p.R163C|HPGD_ENST00000422112.2_Missense_Mutation_p.R95C|HPGD_ENST00000510901.1_Missense_Mutation_p.R42C	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	163					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	GCTGCTGAGCGTGTGAATCCA	0.403													7	23					0	0	0	0	A	175416710	G	A	175416710	3	1	121	1	0	0	0	0	1	0	0	0	7384	1145	40	1	325	1	HPGD	4	175416710	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	20767278	175416710	15737566	120	23193											
BRD9	65980	broad.mit.edu	37	chr5	870640	870640	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtcgggataggacttcatCgacatgaactccagaacaga	14	7	10	10	3	1	3	1	1	0	2	4	6	2	5	1	2	2	0	1	2	3	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:870640C>T	ENST00000323510.4	-	11	1184	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S	BRD9_ENST00000467963.1_Silent_p.S491S|BRD9_ENST00000388890.4_Silent_p.S375S|BRD9_ENST00000483173.1_Silent_p.S438S			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	491							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGGACTTCATCGACATGAACT	0.493													9	53					0	0	0	0	T	870640	C	T	870640	2	4	121	1	0	0	0	0	0	0	0	1	1515	871	31	1		1	BRD9	5	870640	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08		870640	180044620	121	23194											
DNAH5	1767	broad.mit.edu	37	chr5	13753519	13753519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggagcatcaatcaacatCtcactgagatttaggttctt	12	13	8	8	0	4	1	3	1	2	1	5	3	4	2	0	2	2	3	0	2	4	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:13753519C>A	ENST00000265104.4	-	63	10799	c.10695G>T	c.(10693-10695)gaG>gaT	p.E3565D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3565					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAATCAACATCTCACTGAGAT	0.403									Kartagener syndrome				36	103					5.71845e-15	7.57231e-15	1	0	A	13753519	C	A	13753519	3	1	121	1	0	0	0	0	1	0	0	0	4641	912	32	2	3247	2	DNAH5	5	13753519	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	12882879	13753519	167161741	122	23195											
DNAH5	1767	broad.mit.edu	37	chr5	13776571	13776571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caactaaagcatctttgggcCatcggctgaaccagtcaatt	12	10	8	11	1	2	1	1	1	1	0	3	1	2	1	2	2	3	2	2	2	5	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:13776571C>A	ENST00000265104.4	-	55	9454	c.9350G>T	c.(9349-9351)tGg>tTg	p.W3117L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3117	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCTTTGGGCCATCGGCTGAA	0.458									Kartagener syndrome				98	77					1.26289e-39	1.8576e-39	1	0	A	13776571	C	A	13776571	3	1	121	1	0	0	0	0	1	0	0	0	4641	595	21	4	4624	4	DNAH5	5	13776571	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	23052	13776571	167138689	123	23196											
PRDM9	56979	broad.mit.edu	37	chr5	23510043	23510043	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggtctcagagccactCgaccagctttcatgtgtcac	8	12	8	13	1	4	1	4	0	1	1	6	2	4	1	2	1	2	1	2	1	0	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:23510043C>A	ENST00000296682.3	+	4	390	c.208C>A	c.(208-210)Cga>Aga	p.R70R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	70	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R70*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGAGCCACTCGACCAGCTTT	0.483										HNSCC(3;0.000094)			34	22					9.8876e-21	1.38166e-20	1	0	A	23510043	C	A	23510043	2	1	121	1	0	0	0	0	0	0	0	1	12543	876	31	3		3	PRDM9	5	23510043	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	9733472	23510043	157405217	124	23197											
SLC45A2	51151	broad.mit.edu	37	chr5	33982365	33982365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagagggcatggtagtggaGgcccttctccttgtcctgat	7	11	14	9	0	1	2	0	1	1	1	3	4	2	3	3	4	0	2	3	4	2	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:33982365G>T	ENST00000382102.3	-	2	595	c.538C>A	c.(538-540)Ctc>Atc	p.L180I	SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000345083.5_Missense_Mutation_p.L180I|SLC45A2_ENST00000296589.4_Missense_Mutation_p.L180I|SLC45A2_ENST00000509381.1_Missense_Mutation_p.L180I	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	180					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TGGTAGTGGAGGCCCTTCTCC	0.493													29	23					4.06085e-26	5.79654e-26	1	0	T	33982365	G	T	33982365	3	4	121	1	0	0	0	0	1	0	0	0	14729	1000	35	4	1093	4	SLC45A2	5	33982365	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	10472322	33982365	146932895	125	23198											
RAB3C	115827	broad.mit.edu	37	chr5	58120944	58120944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgacatggaagacgagCgggtcatctcaactgagcga	12	7	14	8	3	2	3	2	2	1	1	3	6	2	4	0	2	3	0	0	2	2	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:58120944C>T	ENST00000282878.4	+	4	620	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	151					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		GGAAGACGAGCGGGTCATCTC	0.363													25	4					0	0	0	0	T	58120944	C	T	58120944	3	4	121	1	0	0	0	0	1	0	0	0	13015	759	27	1	465	1	RAB3C	5	58120944	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	24138579	58120944	122794316	126	23199											
VCAN	1462	broad.mit.edu	37	chr5	82789364	82789364	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgctgttgtttttgcaGgggttgtgtttcactacagg	4	19	13	5	0	1	0	1	0	0	0	1	0	1	0	0	3	3	7	0	3	1	7			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:82789364G>A	ENST00000265077.3	+	4	1010		c.e4-1		VCAN_ENST00000512590.2_Splice_Site|VCAN_ENST00000342785.4_Splice_Site|VCAN_ENST00000502527.2_Splice_Site|VCAN_ENST00000513984.1_Splice_Site|VCAN_ENST00000343200.5_Splice_Site	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican						cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGTTTTTGCAGGGGTTGTGTT	0.463													23	13					0	0	0	0	A	82789364	G	A	82789364	5	1	121	1	0	0	0	0	0	0	1	0	17234	1014	35	4	455	4	VCAN	5	82789364	Splice_Site	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	24668420	82789364	98125896	127	23200											
ELL2	22936	broad.mit.edu	37	chr5	95226885	95226885	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctagctacagtctccatCctggcatgcaaagctctgta	9	12	7	13	0	3	0	0	0	3	0	5	0	4	0	2	1	4	5	2	1	4	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:95226885C>A	ENST00000237853.4	-	10	2032	c.1683G>T	c.(1681-1683)agG>agT	p.R561S	ELL2_ENST00000431061.2_Missense_Mutation_p.R311S	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	561					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		p.R561S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CAGTCTCCATCCTGGCATGCA	0.388													41	21					1.8453e-21	2.59908e-21	1	0	A	95226885	C	A	95226885	3	1	121	1	0	0	0	0	1	0	0	0	5101	854	30	2	251	2	ELL2	5	95226885	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	12437521	95226885	85688375	128	23201											
GIN1	54826	broad.mit.edu	37	chr5	102442560	102442560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttttttcctcttctgaaaCaattaccaaacgattttgtt	10	19	3	9	1	2	1	0	1	2	0	3	2	3	1	2	0	3	1	2	0	4	8			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:102442560C>A	ENST00000399004.2	-	3	287	c.193G>T	c.(193-195)Gtt>Ttt	p.V65F	GIN1_ENST00000508629.1_Missense_Mutation_p.V65F	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	65					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TCTTCTGAAACAATTACCAAA	0.338													3	3					6.4e-05	7.05218e-05	1	0	A	102442560	C	A	102442560	3	1	121	1	0	0	0	0	1	0	0	0	6437	478	17	4	1399	4	GIN1	5	102442560	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	7215675	102442560	78472700	129	23202											
HSPA4	3308	broad.mit.edu	37	chr5	132412462	132412462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctagacattaagtccaaaatCcgtgcattattacgactctc	13	12	5	11	2	1	1	0	0	1	1	4	2	3	1	2	0	2	1	2	0	6	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:132412462C>T	ENST00000304858.2	+	7	1069	c.780C>T	c.(778-780)atC>atT	p.I260I	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	260					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCCAAAATCCGTGCATTAT	0.368													21	16					0	0	0	0	T	132412462	C	T	132412462	2	4	121	1	0	0	0	0	0	0	0	1	7464	845	30	2		2	HSPA4	5	132412462	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	29969902	132412462	48502798	130	23203											
PCDHA2	56146	broad.mit.edu	37	chr5	140176485	140176485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgactcccctcgacacCgcctactcgtgctggtgaag	7	8	11	15	3	0	2	0	2	0	0	3	3	1	2	4	2	2	2	4	2	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:140176485C>T	ENST00000526136.1	+	1	1936	c.1936C>T	c.(1936-1938)Cgc>Tgc	p.R646C	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R646C|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R646C	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCGACACCGCCTACTCGT	0.642													33	11					0	0	0	0	T	140176485	C	T	140176485	3	4	121	1	0	0	0	0	1	0	0	0	11595	652	23	1	1938	1	PCDHA2	5	140176485	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	7764023	140176485	40738775	131	23204											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724669	140724669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtctctcacaagctcagtcCcagaagagggcaccgttgga	10	7	11	13	2	3	2	2	0	1	2	5	3	4	3	2	2	1	3	2	2	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:140724669C>T	ENST00000253812.6	+	1	1069	c.1069C>T	c.(1069-1071)Cca>Tca	p.P357S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTCAGTCCCAGAAGAGGG	0.473													29	10					0	0	0	0	T	140724669	C	T	140724669	3	4	121	1	0	0	0	0	1	0	0	0	11626	623	22	4	1071	4	PCDHGA3	5	140724669	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	548184	140724669	40190591	132	23205											
PCDH1	5097	broad.mit.edu	37	chr5	141248204	141248204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggagggccgctcaaacttgGgggcgttgtcattggtgtca	7	10	16	8	2	3	0	3	0	0	0	3	1	3	1	1	5	1	2	1	5	1	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:141248204G>T	ENST00000287008.3	-	2	980	c.833C>A	c.(832-834)cCc>cAc	p.P278H	PCDH1_ENST00000536585.1_Missense_Mutation_p.P256H|PCDH1_ENST00000456271.1_Missense_Mutation_p.P266H|PCDH1_ENST00000503492.1_Missense_Mutation_p.P278H|PCDH1_ENST00000394536.3_Missense_Mutation_p.P278H	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	278	Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCAAACTTGGGGGCGTTGTC	0.607													18	7					3.41278e-10	4.25396e-10	1	0	T	141248204	G	T	141248204	3	4	121	1	0	0	0	0	1	0	0	0	11577	1232	43	4	2980	4	PCDH1	5	141248204	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	523535	141248204	39667056	133	23206											
ARHGAP26	23092	broad.mit.edu	37	chr5	142513555	142513555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaacaccgtgcccgatatGcctctcaccaatgcccagct	9	10	6	16	2	1	0	1	0	1	0	2	1	1	0	5	0	5	1	5	0	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:142513555G>A	ENST00000378004.3	+	19	2077	c.1722G>A	c.(1720-1722)atG>atA	p.M574I	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.M574I	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	574					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCCGATATGCCTCTCACCA	0.542													86	35					0	0	0	0	A	142513555	G	A	142513555	3	1	121	1	0	0	0	0	1	0	0	0	877	1319	46	4	1796	4	ARHGAP26	5	142513555	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1265351	142513555	38401705	134	23207											
DPYSL3	1809	broad.mit.edu	37	chr5	146777234	146777234	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatgctttttaccttccTccgtgctttaatgcgcttgt	5	18	6	12	2	0	0	0	0	0	0	3	0	3	0	4	0	4	3	4	0	3	7			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:146777234T>C	ENST00000343218.5	-	12	1995	c.1798A>G	c.(1798-1800)Agg>Ggg	p.R600G	DPYSL3_ENST00000534907.1_Missense_Mutation_p.R112G|DPYSL3_ENST00000398514.3_Missense_Mutation_p.R486G	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	486					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTACCTTCCTCCGTGCTTTA	0.537													28	18					0	0	0	0	C	146777234	T	C	146777234	3	2	121	1	0	0	0	0	1	0	0	0	4784	1550	54	5	268	5	DPYSL3	5	146777234	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	4263679	146777234	34138026	135	23208											
FAT2	2196	broad.mit.edu	37	chr5	150925814	150925814	+	Frame_Shift_Del	DEL	G	G	-																															ccttcactgtcagagtatgtGgggcatgatttgcctgatca																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:150925814delG	ENST00000261800.5	-	9	4886	c.4874delC	c.(4873-4875)cafs	p.P1625fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1625	Cadherin 14.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAGTATGTGGGGCATGATT	0.483													18	13	---	---	---	---					-	150925814	G	-	150925814	7	5	121	1	0	1	0	1	0	0	0	0	5735	1348	47	0	8235	0	FAT2	5	150925814	Frame_Shift_Del	DEL	G	TCGA-CN-A63W-01A-11D-A30E-08	4148580	150925814	29989446	136	23209											
FOXI1	2299	broad.mit.edu	37	chr5	169535491	169535491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggtgggggtgactgggCgaaccccatgcccaccaaca	9	4	14	14	2	0	1	0	1	0	0	0	2	0	1	4	4	4	0	4	4	2	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:169535491C>T	ENST00000449804.2	+	2	773	c.728C>T	c.(727-729)gCg>gTg	p.A243V	FOXI1_ENST00000306268.6_Missense_Mutation_p.A338V	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	338			P -> S (in dbSNP:rs35678180).		epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.A338V(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGACTGGGCGAACCCCATG	0.577									Pendred syndrome				24	14					0	0	0	0	T	169535491	C	T	169535491	3	4	121	1	0	0	0	0	1	0	0	0	6056	768	27	1	1019	1	FOXI1	5	169535491	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	18609677	169535491	11379769	137	23210											
CPEB4	80315	broad.mit.edu	37	chr5	173337529	173337529	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctgtttgtgtctacaggatCgccccaggacattcgacatg	8	11	11	11	2	1	0	0	0	1	0	3	3	1	2	2	2	1	2	2	2	1	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:173337529C>G	ENST00000265085.5	+	2	2583	c.1129C>G	c.(1129-1131)Cgc>Ggc	p.R377G	CPEB4_ENST00000517880.1_5'UTR|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377G|CPEB4_ENST00000522336.1_5'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377G|CPEB4_ENST00000519835.1_Missense_Mutation_p.R377G	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	377							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTACAGGATCGCCCCAGGAC	0.368													45	27					0	0	0	0	G	173337529	C	G	173337529	3	3	121	1	0	0	0	0	1	0	0	0	3833	884	31	3	1135	3	CPEB4	5	173337529	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	3802038	173337529	7577731	138	23211											
NSD1	64324	broad.mit.edu	37	chr5	176638879	176638879	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggtgcctaaaaagcggtGgcagcgtttaaaccaaaggc	13	7	13	8	2	0	0	0	0	0	0	0	0	0	0	2	4	4	2	2	4	6	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:176638879G>A	ENST00000439151.2	+	5	3524	c.3479G>A	c.(3478-3480)tGg>tAg	p.W1160*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.W1057*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.W891*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.W891*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1160					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAAAAGCGGTGGCAGCGTTTA	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			22	6					0	0	0	0	A	176638879	G	A	176638879	4	1	121	1	0	0	0	0	0	1	0	0	10740	1357	47	4	3493	4	NSD1	5	176638879	Nonsense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	3301350	176638879	4276381	139	23212											
RREB1	6239	broad.mit.edu	37	chr6	7229573	7229573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctgctgagcctgtcacCtttcgaagctgcttccctag	7	11	8	15	1	1	1	1	1	0	0	3	2	2	1	4	0	5	3	4	0	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:7229573C>T	ENST00000379938.2	+	10	1778	c.1241C>T	c.(1240-1242)cCt>cTt	p.P414L	RREB1_ENST00000334984.6_Missense_Mutation_p.P414L|RREB1_ENST00000349384.6_Missense_Mutation_p.P414L|RREB1_ENST00000379933.3_Missense_Mutation_p.P414L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	414					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGCCTGTCACCTTTCGAAGCT	0.592													14	30					0	0	0	0	T	7229573	C	T	7229573	3	4	121	1	0	0	0	0	1	0	0	0	13764	681	24	4	1267	4	RREB1	6	7229573	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08		7229573	163885494	140	23213											
DSP	1832	broad.mit.edu	37	chr6	7584228	7584228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggtcagatttcttatgacGaggttggtgagagaattaag	11	13	13	4	1	2	4	1	2	1	2	2	6	2	4	0	3	0	1	0	3	3	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:7584228G>C	ENST00000379802.3	+	24	7074	c.6733G>C	c.(6733-6735)Gag>Cag	p.E2245Q	DSP_ENST00000418664.2_Missense_Mutation_p.E1646Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2245	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTCTTATGACGAGGTTGGTGA	0.448													18	18					0	0	0	0	C	7584228	G	C	7584228	3	2	121	1	0	0	0	0	1	0	0	0	4817	1059	37	3	6827	3	DSP	6	7584228	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	354655	7584228	163530839	141	23214											
EDN1	1906	broad.mit.edu	37	chr6	12294602	12294602	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtgagaggaagaaaaatCagaagaagttcagaggaaca	20	6	12	3	0	2	5	2	1	0	5	2	8	2	7	0	2	1	1	0	2	7	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:12294602C>A	ENST00000379375.5	+	4	765	c.498C>A	c.(496-498)atC>atA	p.I166I		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	166					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				GAAGAAAAATCAGAAGAAGTT	0.388													16	39					1.99824e-07	2.32689e-07	1	0	A	12294602	C	A	12294602	2	1	121	1	0	0	0	0	0	0	0	1	4952	816	29	2		2	EDN1	6	12294602	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	4710374	12294602	158820465	142	23215											
TRIM38	10475	broad.mit.edu	37	chr6	25983648	25983648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactggcatgaagcaagaGcctcagtctggattctggac	10	8	13	10	0	3	2	1	1	2	1	3	4	3	4	1	4	2	3	1	4	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:25983648G>A	ENST00000357085.3	+	8	1607	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	TRIM38_ENST00000349458.3_Silent_p.E377E	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	377	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TGAAGCAAGAGCCTCAGTCTG	0.507													30	43					0	0	0	0	A	25983648	G	A	25983648	2	1	121	1	0	0	0	0	0	0	0	1	16607	962	34	4		4	TRIM38	6	25983648	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	13689046	25983648	145131419	143	23216											
TRIM38	10475	broad.mit.edu	37	chr6	25983800	25983800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agttgtatccttttataacgGgaatactggctgccacatct	10	14	8	9	1	1	0	0	0	1	0	2	1	2	1	2	2	3	3	2	2	5	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:25983800G>T	ENST00000357085.3	+	8	1759	c.1283G>T	c.(1282-1284)gGg>gTg	p.G428V	TRIM38_ENST00000349458.3_Missense_Mutation_p.G428V	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	428	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TTTTATAACGGGAATACTGGC	0.473													25	52					1.85244e-09	2.2717e-09	1	0	T	25983800	G	T	25983800	3	4	121	1	0	0	0	0	1	0	0	0	16607	1232	43	4	1305	4	TRIM38	6	25983800	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	152	25983800	145131267	144	23217											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056301	26056301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccgcccgcctttttaaccTtgggcttggcttccccggag	3	13	10	15	3	0	0	0	0	0	0	2	1	2	1	6	3	1	2	6	3	1	7			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:26056301T>C	ENST00000343677.2	-	1	398	c.356A>G	c.(355-357)aAg>aGg	p.K119R		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	119					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CTTTTTAACCTTGGGCTTGGC	0.582													33	69					0	0	0	0	C	26056301	T	C	26056301	3	2	121	1	0	0	0	0	1	0	0	0	7174	1609	56	5	289	5	HIST1H1C	6	26056301	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	72501	26056301	145058766	145	23218											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860843	27860843	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggcggtgcactcgtcCtacaggaaattggagcccag	10	6	14	11	2	0	0	0	0	0	0	2	3	1	2	2	4	4	2	2	4	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:27860843C>A	ENST00000359611.2	-	1	120	c.85G>T	c.(85-87)Gga>Tga	p.G29*	HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	29					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						TGCACTCGTCCTACAGGAAAT	0.647													21	27					8.34094e-07	9.54534e-07	1	0	A	27860843	C	A	27860843	4	1	121	1	0	0	0	0	0	1	0	0	7189	690	24	4	311	4	HIST1H2AM	6	27860843	Nonsense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	1804542	27860843	143254224	146	23219											
VARS	7407	broad.mit.edu	37	chr6	31747892	31747892	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctctgtcaggcggctGcggatccagcggtccaccag	7	6	13	15	3	2	0	1	0	1	0	4	1	4	1	4	4	3	1	4	4	0	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:31747892G>A	ENST00000375663.3	-	26	3404	c.2964C>T	c.(2962-2964)cgC>cgT	p.R988R		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	988					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCAGGCGGCTGCGGATCCAGC	0.662													26	37					0	0	0	0	A	31747892	G	A	31747892	2	1	121	1	0	0	0	0	0	0	0	1	17219	1306	46	4		4	VARS	6	31747892	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	3887049	31747892	139367175	147	23220											
TNXB	7148	broad.mit.edu	37	chr6	32049365	32049366	+	Frame_Shift_Ins	INS	-	-	G																															atgagagacgcaaggagtctINSggggtcacgccggtcactgt																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:32049365_32049366insG	ENST00000375244.3	-	10	4022_4023	c.3821_3822insC	c.(3820-3822)cgafs	p.R1274fs	TNXB_ENST00000375247.2_Frame_Shift_Ins_p.R1274fs			P22105	TENX_HUMAN	tenascin XB	1361	Fibronectin type-III 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCAAGGAGTCTGGGGTCACGCC	0.619													8	8	---	---	---	---					G	32049366	-	G	32049365	7	5	121	1	0	1	1	0	0	0	0	0	16440	1567	55	0	11031	0	TNXB	6	32049365	Frame_Shift_Ins	INS	-	TCGA-CN-A63W-01A-11D-A30E-08	301473	32049365	139065702	148	23221											
BTNL2	56244	broad.mit.edu	37	chr6	32370924	32370924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctgggaaccagccccttGcagtgcacacaagctggact	9	7	11	14	0	1	0	0	0	1	0	1	2	1	2	3	2	5	4	3	2	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:32370924G>T	ENST00000454136.3	-	3	501	c.497C>A	c.(496-498)gCa>gAa	p.A166E	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.A166E|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000429232.2_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	166	Ig-like V-type 2.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCAGCCCCTTGCAGTGCACAC	0.602													6	17					2.0095e-06	2.28489e-06	1	0	T	32370924	G	T	32370924	3	4	121	1	0	0	0	0	1	0	0	0	1574	1319	46	4	886	4	BTNL2	6	32370924	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	321559	32370924	138744143	149	23222											
SPATS1	221409	broad.mit.edu	37	chr6	44337832	44337832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatttattccacttgagcCtcttccacaaattcccaagt	11	14	3	13	0	1	1	0	1	1	0	4	1	4	1	4	0	2	0	4	0	4	7			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:44337832C>T	ENST00000288390.2	+	6	1087	c.740C>T	c.(739-741)cCt>cTt	p.P247L	SPATS1_ENST00000323108.8_Missense_Mutation_p.P247L			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	247										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCACTTGAGCCTCTTCCACAA	0.348													30	32					0	0	0	0	T	44337832	C	T	44337832	3	4	121	1	0	0	0	0	1	0	0	0	15108	681	24	4	762	4	SPATS1	6	44337832	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	11966908	44337832	126777235	150	23223											
CRISP1	167	broad.mit.edu	37	chr6	49819761	49819761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactactcttctcctgagggCgttgtgtatattaacgatct	9	15	8	9	2	3	1	0	1	3	0	4	2	3	1	1	1	3	2	1	1	5	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:49819761C>T	ENST00000335847.4	-	3	249	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	CRISP1_ENST00000507853.1_Missense_Mutation_p.A50T|CRISP1_ENST00000505118.1_Missense_Mutation_p.A50T|CRISP1_ENST00000355791.2_Missense_Mutation_p.A50T|CRISP1_ENST00000329411.5_Missense_Mutation_p.A50T|CRISP1_ENST00000536021.1_Missense_Mutation_p.A50T	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	50					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CTCCTGAGGGCGTTGTGTATA	0.378													20	41					0	0	0	0	T	49819761	C	T	49819761	3	4	121	1	0	0	0	0	1	0	0	0	3909	768	27	1	625	1	CRISP1	6	49819761	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	5481929	49819761	121295306	151	23224											
PKHD1	5314	broad.mit.edu	37	chr6	51889466	51889466	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtcatagcctctgacgtgGtactccccggccggaaggga	8	7	13	13	3	2	1	1	1	1	0	3	3	3	3	4	4	2	1	4	4	3	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:51889466G>A	ENST00000371117.3	-	32	5417	c.5142C>T	c.(5140-5142)taC>taT	p.Y1714Y	PKHD1_ENST00000340994.4_Silent_p.Y1714Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1714	IPT/TIG 12; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTCTGACGTGGTACTCCCCGG	0.517													24	27					0	0	0	0	A	51889466	G	A	51889466	2	1	121	1	0	0	0	0	0	0	0	1	12043	1256	44	4		4	PKHD1	6	51889466	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2069705	51889466	119225601	152	23225											
HMGCLL1	54511	broad.mit.edu	37	chr6	55381332	55381332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgaaaaccctgaagattagGagtaaggacaggatagcgaa	17	6	13	5	1	0	3	0	2	0	1	0	7	0	6	1	3	2	1	1	3	7	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:55381332G>A	ENST00000398661.2	-	5	588	c.457C>T	c.(457-459)Cct>Tct	p.P153S	HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P123S|HMGCLL1_ENST00000428842.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	153							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGAAGATTAGGAGTAAGGACA	0.333													27	28					0	0	0	0	A	55381332	G	A	55381332	3	1	121	1	0	0	0	0	1	0	0	0	7280	1174	41	2	679	2	HMGCLL1	6	55381332	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	3491866	55381332	115733735	153	23226											
KHDRBS2	202559	broad.mit.edu	37	chr6	62442634	62442634	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcataagtctcataggtctgGtcatcatattcacccccgta	10	13	6	12	1	6	0	5	0	2	0	7	0	6	0	2	2	0	1	2	2	4	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:62442634G>C	ENST00000281156.4	-	7	1124	c.846C>G	c.(844-846)gaC>gaG	p.D282E		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CATAGGTCTGGTCATCATATT	0.378													16	48					0	0	0	0	C	62442634	G	C	62442634	3	2	121	1	0	0	0	0	1	0	0	0	8198	1252	44	4	215	4	KHDRBS2	6	62442634	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	7061302	62442634	108672433	154	23227											
KHDRBS2	202559	broad.mit.edu	37	chr6	62887155	62887155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttttgttgctgatgaCatcaagatacttcttttctt	8	21	6	6	0	3	3	1	2	2	1	3	3	3	3	0	0	2	3	0	0	3	9			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:62887155C>A	ENST00000281156.4	-	2	432	c.154G>T	c.(154-156)Gtc>Ttc	p.V52F		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTGCTGATGACATCAAGATAC	0.333													7	13					2.0095e-06	2.28489e-06	1	0	A	62887155	C	A	62887155	3	1	121	1	0	0	0	0	1	0	0	0	8198	478	17	4	927	4	KHDRBS2	6	62887155	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	444521	62887155	108227912	155	23228											
LCA5	167691	broad.mit.edu	37	chr6	80197043	80197043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttgtaattaaatctacaCcatctttactaagtttttcc	11	19	2	9	0	3	0	0	0	3	0	4	0	4	0	2	0	2	2	2	0	6	10			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:80197043C>T	ENST00000392959.1	-	9	2383	c.1772G>A	c.(1771-1773)gGt>gAt	p.G591D	LCA5_ENST00000369846.4_Missense_Mutation_p.G591D	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	591					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TAAATCTACACCATCTTTACT	0.353													23	38					0	0	0	0	T	80197043	C	T	80197043	3	4	121	1	0	0	0	0	1	0	0	0	8709	507	18	4	325	4	LCA5	6	80197043	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	17309888	80197043	90918024	156	23229											
SNAP91	9892	broad.mit.edu	37	chr6	84371301	84371301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatatctactatagcgcctTatgaaggtagacatatcata	16	12	6	7	1	2	2	1	1	1	1	2	2	2	2	1	1	2	1	1	1	10	8			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:84371301T>C	ENST00000428679.2	-	5	965	c.372A>G	c.(370-372)atA>atG	p.I124M	SNAP91_ENST00000521485.1_Missense_Mutation_p.I124M|SNAP91_ENST00000521743.1_Missense_Mutation_p.I124M|SNAP91_ENST00000439399.2_Missense_Mutation_p.I124M|SNAP91_ENST00000520302.1_Missense_Mutation_p.I124M|SNAP91_ENST00000369694.2_Missense_Mutation_p.I124M|SNAP91_ENST00000520213.1_Missense_Mutation_p.I124M|SNAP91_ENST00000195649.6_Missense_Mutation_p.I124M|SNAP91_ENST00000437520.1_Missense_Mutation_p.I124M			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	124	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TATAGCGCCTTATGAAGGTAG	0.328													13	31					0	0	0	0	C	84371301	T	C	84371301	3	2	121	1	0	0	0	0	1	0	0	0	14921	1744	61	5	2447	5	SNAP91	6	84371301	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	4174258	84371301	86743766	157	23230											
ZNF292	23036	broad.mit.edu	37	chr6	87967926	87967926	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcacaagtaaatgcaacgGtgatgccaaatccaactgta	16	8	7	10	1	1	1	1	1	0	0	2	1	2	1	2	1	4	3	2	1	7	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:87967926G>C	ENST00000369577.3	+	8	4622	c.4579G>C	c.(4579-4581)Gtg>Ctg	p.V1527L	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1522L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAATGCAACGGTGATGCCAAA	0.463													7	9					0	0	0	0	C	87967926	G	C	87967926	3	2	121	1	0	0	0	0	1	0	0	0	17921	1261	44	4	4609	4	ZNF292	6	87967926	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	3596625	87967926	83147141	158	23231											
MDN1	23195	broad.mit.edu	37	chr6	90453420	90453420	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaaatacctgacagatagTagttttcccacacctgttag	12	12	7	10	0	0	2	0	1	0	1	1	2	1	2	3	0	2	4	3	0	5	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:90453420T>A	ENST00000369393.3	-	30	4307	c.4192A>T	c.(4192-4194)Act>Tct	p.T1398S	MDN1_ENST00000428876.1_Missense_Mutation_p.T1398S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1398					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGACAGATAGTAGTTTTCCCA	0.463													28	61					0	0	0	0	A	90453420	T	A	90453420	3	1	121	1	0	0	0	0	1	0	0	0	9484	1638	57	5	12890	5	MDN1	6	90453420	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	2485494	90453420	80661647	159	23232											
CASP8AP2	9994	broad.mit.edu	37	chr6	90572294	90572294	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctacaaggacatcctgAgaaatatggtaaaggtgaac	17	7	11	6	0	0	2	0	2	0	1	1	4	1	3	1	4	2	2	1	4	8	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:90572294A>T	ENST00000551025.1	+	0	2303							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GGACATCCTGAGAAATATGGT	0.398													70	92					0	0	0	0	T	90572294	A	T	90572294	1	4	121	0	1	0	0	0	0	0	0	0	2703	304	11	5		5	CASP8AP2	6	90572294	RNA	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	118874	90572294	80542773	160	23233											
FHL5	9457	broad.mit.edu	37	chr6	97051502	97051502	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaccaaaatgacaactgctCacttttactgtcaatactgc	15	11	4	11	0	2	1	2	1	0	0	2	1	2	1	1	0	6	1	1	0	7	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:97051502C>G	ENST00000326771.2	+	3	393	c.13C>G	c.(13-15)Cac>Gac	p.H5D	FHL5_ENST00000541107.1_Missense_Mutation_p.H5D	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	5						nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GACAACTGCTCACTTTTACTG	0.313													17	18					0	0	0	0	G	97051502	C	G	97051502	3	3	121	1	0	0	0	0	1	0	0	0	5926	826	29	2	15	2	FHL5	6	97051502	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	6479208	97051502	74063565	161	23234											
REV3L	5980	broad.mit.edu	37	chr6	111695668	111695668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgctttctaagaaagaaGaaaagcagccagataacttc	16	10	7	8	0	2	4	0	0	2	4	3	4	2	4	1	0	4	2	1	0	6	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:111695668G>A	ENST00000435970.1	-	15	4472	c.3656C>T	c.(3655-3657)tCt>tTt	p.S1219F	REV3L_ENST00000358835.3_Missense_Mutation_p.S1297F|REV3L_ENST00000368802.3_Missense_Mutation_p.S1297F|REV3L_ENST00000368805.1_Missense_Mutation_p.S1297F			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1297					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAAGAAAGAAGAAAAGCAGCC	0.423								DNA polymerases (catalytic subunits)					13	55					0	0	0	0	A	111695668	G	A	111695668	3	1	121	1	0	0	0	0	1	0	0	0	13322	942	33	2	5582	2	REV3L	6	111695668	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	14644166	111695668	59419399	162	23235											
LAMA4	3910	broad.mit.edu	37	chr6	112462049	112462049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcccgaaaattccccCtttttaatgaacttttcctc	9	16	2	14	1	2	1	1	1	1	0	6	2	4	1	4	0	1	0	4	0	4	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:112462049C>A	ENST00000230538.7	-	22	3286	c.2889G>T	c.(2887-2889)aaG>aaT	p.K963N	LAMA4_ENST00000389463.4_Missense_Mutation_p.K956N|LAMA4_ENST00000424408.2_Missense_Mutation_p.K956N|LAMA4_ENST00000522006.1_Missense_Mutation_p.K956N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	963	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAAATTCCCCCTTTTTAATGA	0.438													22	32					6.44725e-10	7.98017e-10	1	0	A	112462049	C	A	112462049	3	1	121	1	0	0	0	0	1	0	0	0	8661	680	24	4	2654	4	LAMA4	6	112462049	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	766381	112462049	58653018	163	23236											
SLC35F1	222553	broad.mit.edu	37	chr6	118475755	118475755	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacattcttctcttcttggtCtataccaccacactagccgt	8	15	4	14	1	4	0	0	0	4	0	5	0	4	0	3	1	3	0	3	1	4	8			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:118475755C>G	ENST00000360388.4	+	2	522	c.321C>G	c.(319-321)gtC>gtG	p.V107V		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	107					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTTCTTGGTCTATACCACCA	0.408													39	71					0	0	0	0	G	118475755	C	G	118475755	2	3	121	1	0	0	0	0	0	0	0	1	14676	900	32	2		2	SLC35F1	6	118475755	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	6013706	118475755	52639312	164	23237											
TMEM200A	114801	broad.mit.edu	37	chr6	130762719	130762719	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaagacagtttgggtcCaatacatccttgcatttgct	10	12	9	10	0	0	2	0	0	0	2	2	2	2	2	3	1	3	3	3	1	3	4	rs73771841	byFrequency	TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:130762719C>G	ENST00000392429.1	+	2	3530	c.1152C>G	c.(1150-1152)tcC>tcG	p.S384S	TMEM200A_ENST00000296978.3_Silent_p.S384S|TMEM200A_ENST00000545622.1_Silent_p.S384S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	384						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AGTTTGGGTCCAATACATCCT	0.527													19	29					0	0	0	0	G	130762719	C	G	130762719	2	3	121	1	0	0	0	0	0	0	0	1	16217	581	21	4		4	TMEM200A	6	130762719	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	12286964	130762719	40352348	165	23238											
VTA1	51534	broad.mit.edu	37	chr6	142539729	142539729	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaagatgtaagcactgcTgtccagaatctacaaaaggc	15	9	9	8	0	1	3	0	1	1	2	2	3	2	3	1	1	3	3	1	1	7	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:142539729T>A	ENST00000367630.4	+	8	931	c.873T>A	c.(871-873)gcT>gcA	p.A291A	VTA1_ENST00000452973.2_Silent_p.A206A|VTA1_ENST00000367621.1_Silent_p.A233A	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	291	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TAAGCACTGCTGTCCAGAATC	0.443													20	35					0	0	0	0	A	142539729	T	A	142539729	2	1	121	1	0	0	0	0	0	0	0	1	17329	1567	55	5		5	VTA1	6	142539729	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	11777010	142539729	28575338	166	23239											
STXBP5	134957	broad.mit.edu	37	chr6	147556394	147556394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattaattacagctttggtcGtccaggagtagaatgttatt	12	15	9	5	1	0	1	0	0	0	1	2	2	1	2	1	2	2	3	1	2	6	6	rs144000289		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:147556394G>A	ENST00000367481.3	+	3	365	c.257G>A	c.(256-258)cGt>cAt	p.R86H	STXBP5_ENST00000321680.6_Missense_Mutation_p.R86H|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.R86H|STXBP5_ENST00000367480.3_Missense_Mutation_p.R86H	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	86					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGCTTTGGTCGTCCAGGAGTA	0.363													13	20					0	0	0	0	A	147556394	G	A	147556394	3	1	121	1	0	0	0	0	1	0	0	0	15446	1145	40	1	267	1	STXBP5	6	147556394	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	5016665	147556394	23558673	167	23240											
PLEKHG1	57480	broad.mit.edu	37	chr6	151151761	151151761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgtcttcagcaaggcCgtctcctgcccagagaaata	10	8	9	14	1	3	1	1	0	2	1	4	2	3	1	4	1	3	2	4	1	3	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:151151761C>T	ENST00000367328.1	+	16	1826	c.1514C>T	c.(1513-1515)cCg>cTg	p.P505L	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.P505L	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	505					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCAGCAAGGCCGTCTCCTGCC	0.507													14	24					0	0	0	0	T	151151761	C	T	151151761	3	4	121	1	0	0	0	0	1	0	0	0	12140	652	23	1	1568	1	PLEKHG1	6	151151761	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	3595367	151151761	19963306	168	23241											
SYNE1	23345	broad.mit.edu	37	chr6	152469313	152469313	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgtgatcccactccaggggGatggagtccacactagccgg	8	7	13	13	2	0	1	0	1	0	0	4	3	3	3	4	4	1	0	4	4	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:152469313G>A	ENST00000367255.5	-	137	25444	c.24843C>T	c.(24841-24843)atC>atT	p.I8281I	SYNE1_ENST00000341594.5_Silent_p.I7893I|SYNE1_ENST00000423061.1_Silent_p.I8210I|SYNE1_ENST00000356820.4_Silent_p.I2805I|SYNE1_ENST00000448038.1_Silent_p.I8210I|SYNE1_ENST00000265368.4_Silent_p.I8281I|SYNE1_ENST00000539504.1_Silent_p.I436I|SYNE1_ENST00000354674.4_Silent_p.I436I|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8281					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTCCAGGGGGATGGAGTCCA	0.597										HNSCC(10;0.0054)			19	25					0	0	0	0	A	152469313	G	A	152469313	2	1	121	1	0	0	0	0	0	0	0	1	15536	1164	41	2		2	SYNE1	6	152469313	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1317552	152469313	18645754	169	23242											
IGF2R	3482	broad.mit.edu	37	chr6	160505046	160505046	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggacattgggaggccAcaagtcttcagtgaagtgcg	11	8	15	7	1	2	2	1	2	1	0	2	5	2	4	1	3	1	0	1	3	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:160505046A>G	ENST00000356956.1	+	40	6046	c.5898A>G	c.(5896-5898)ccA>ccG	p.P1966P		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1966					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTGGGAGGCCACAAGTCTTCA	0.463													43	68					0	0	0	0	G	160505046	A	G	160505046	2	3	121	1	0	0	0	0	0	0	0	1	7629	146	6	5		5	IGF2R	6	160505046	Silent	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	8035733	160505046	10610021	170	23243											
TCP10	6953	broad.mit.edu	37	chr6	167786681	167786681	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccccatgtcctgtctggaGggagcggcgtgcagagctcc	5	7	16	13	2	1	1	0	0	1	1	3	3	3	3	4	4	3	2	4	4	0	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:167786681G>A	ENST00000397829.4	-	8	1124	c.957C>T	c.(955-957)ccC>ccT	p.P319P	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	346						cytosol		p.P319P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CCTGTCTGGAGGGAGCGGCGT	0.537													25	70					0	0	0	0	A	167786681	G	A	167786681	2	1	121	1	0	0	0	0	0	0	0	1	15804	987	35	4		4	TCP10	6	167786681	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	7281635	167786681	3328386	171	23244											
FRMD1	79981	broad.mit.edu	37	chr6	168475987	168475987	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccacgttgcacacttgcTggaaaagctcgcggccagta	9	8	11	13	4	0	0	0	0	0	0	2	1	0	1	2	2	3	5	2	2	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:168475987T>C	ENST00000283309.6	-	2	306	c.242A>G	c.(241-243)cAg>cGg	p.Q81R	FRMD1_ENST00000440994.2_Missense_Mutation_p.Q13R	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	81	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCACACTTGCTGGAAAAGCTC	0.612													11	31					0	0	0	0	C	168475987	T	C	168475987	3	2	121	1	0	0	0	0	1	0	0	0	6097	1580	55	5	1447	5	FRMD1	6	168475987	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	689306	168475987	2639080	172	23245											
AIMP2	7965	broad.mit.edu	37	chr7	6057622	6057622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgctttggagaacagaatAaaaaacagccccgccaagac	17	5	9	10	1	0	3	0	0	0	3	0	4	0	3	3	1	4	1	3	1	6	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:6057622A>G	ENST00000223029.3	+	3	639	c.520A>G	c.(520-522)Aaa>Gaa	p.K174E	AIMP2_ENST00000400479.2_Missense_Mutation_p.K96E|AIMP2_ENST00000395236.2_Missense_Mutation_p.K105E	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	174	Interaction with TP53.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGAACAGAATAAAAAACAGCC	0.502													13	20					0	0	0	0	G	6057622	A	G	6057622	3	3	121	1	0	0	0	0	1	0	0	0	434	363	13	5	530	5	AIMP2	7	6057622	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08		6057622	153081041	173	23246											
USP42	84132	broad.mit.edu	37	chr7	6189454	6189454	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctcaacctaaccttcatAgtaattctttggagaaccct	12	13	5	11	0	3	1	2	0	2	1	4	2	3	1	3	1	3	1	3	1	5	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:6189454A>G	ENST00000306177.5	+	13	1785	c.1627A>G	c.(1627-1629)Agt>Ggt	p.S543G		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	543					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TAACCTTCATAGTAATTCTTT	0.433													21	42					0	0	0	0	G	6189454	A	G	6189454	3	3	121	1	0	0	0	0	1	0	0	0	17169	420	15	5	1673	5	USP42	7	6189454	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	131832	6189454	152949209	174	23247											
THSD7A	221981	broad.mit.edu	37	chr7	11514042	11514042	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgacagagcaggaggcctccCcattccaagtcgtagttgtg	9	8	12	12	2	0	1	0	0	0	1	3	3	2	2	4	2	1	3	4	2	2	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:11514042C>A	ENST00000423059.3	-	8	2422	c.2171G>T	c.(2170-2172)gGg>gTg	p.G724V	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	724	TSP type-1 7.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGAGGCCTCCCCATTCCAAGT	0.522										HNSCC(18;0.044)			5	60					0.248553	0.249965	1	0	A	11514042	C	A	11514042	3	1	121	1	0	0	0	0	1	0	0	0	15973	623	22	4	2882	4	THSD7A	7	11514042	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	5324588	11514042	147624621	175	23248											
DGKB	1607	broad.mit.edu	37	chr7	14378328	14378328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttattaaatctatctgtactCcatcacactgatcggtaaaa	14	14	4	9	1	3	1	1	1	2	0	5	1	4	1	1	1	1	2	1	1	7	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:14378328C>A	ENST00000403951.2	-	23	2356	c.1937G>T	c.(1936-1938)gGa>gTa	p.G646V	DGKB_ENST00000407950.1_Missense_Mutation_p.G638V|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.G645V|DGKB_ENST00000399322.3_Missense_Mutation_p.G646V|DGKB_ENST00000258767.5_Missense_Mutation_p.G646V|DGKB_ENST00000406247.3_Missense_Mutation_p.G646V|DGKB_ENST00000444700.2_Missense_Mutation_p.G627V			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	646					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TATCTGTACTCCATCACACTG	0.338													11	15					3.86212e-05	4.28139e-05	1	0	A	14378328	C	A	14378328	3	1	121	1	0	0	0	0	1	0	0	0	4503	855	30	2	508	2	DGKB	7	14378328	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	2864286	14378328	144760335	176	23249											
TWISTNB	221830	broad.mit.edu	37	chr7	19738286	19738286	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcttctttttaggtttttTagcagcttcctcagtgccat	5	21	6	9	0	3	0	1	0	2	0	4	0	4	0	2	1	3	3	2	1	2	9			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:19738286T>C	ENST00000222567.5	-	4	740	c.670A>G	c.(670-672)Aaa>Gaa	p.K224E		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	224	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TTAGGTTTTTTAGCAGCTTCC	0.358													59	95					0	0	0	0	C	19738286	T	C	19738286	3	2	121	1	0	0	0	0	1	0	0	0	16880	1763	61	5	350	5	TWISTNB	7	19738286	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	5359958	19738286	139400377	177	23250											
DNAH11	8701	broad.mit.edu	37	chr7	21639713	21639713	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgaaccgaatagcaacAcacctggaaattaaaaatta	20	7	6	8	1	0	2	0	1	0	1	0	4	0	3	2	1	3	1	2	1	9	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:21639713A>C	ENST00000328843.6	+	15	3007	c.2976A>C	c.(2974-2976)acA>acC	p.T992T	DNAH11_ENST00000409508.3_Silent_p.T992T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	992	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAATAGCAACACACCTGGAAA	0.358									Kartagener syndrome				14	29					0	0	0	0	C	21639713	A	C	21639713	2	2	121	1	0	0	0	0	0	0	0	1	4636	146	6	5		5	DNAH11	7	21639713	Silent	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	1901427	21639713	137498950	178	23251											
PDE1C	5137	broad.mit.edu	37	chr7	31904566	31904566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacttaccgccactcctGtcttatagaggaggtaatgc	9	11	8	13	1	1	1	0	0	1	1	2	2	2	2	4	2	3	1	4	2	5	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:31904566G>T	ENST00000396184.3	-	8	944	c.740C>A	c.(739-741)aCa>aAa	p.T247K	PDE1C_ENST00000396193.1_Missense_Mutation_p.T307K|PDE1C_ENST00000321453.7_Missense_Mutation_p.T247K|PDE1C_ENST00000396191.1_Missense_Mutation_p.T247K|PDE1C_ENST00000396182.2_Missense_Mutation_p.T247K	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	247	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CGCCACTCCTGTCTTATAGAG	0.463													26	45					9.86323e-18	1.33267e-17	1	0	T	31904566	G	T	31904566	3	4	121	1	0	0	0	0	1	0	0	0	11706	1377	48	4	1208	4	PDE1C	7	31904566	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	10264853	31904566	127234097	179	23252											
DPY19L1	23333	broad.mit.edu	37	chr7	35009099	35009099	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcatgaaaaatacattGgaaatgcagagtgcaatcaa	19	7	10	5	0	1	2	1	1	0	1	1	4	1	4	0	2	4	3	0	2	7	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:35009099G>T	ENST00000310974.4	-	9	885	c.741C>A	c.(739-741)tcC>tcA	p.S247S	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	247						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAAATACATTGGAAATGCAGA	0.348													18	21					4.96729e-08	5.8614e-08	1	0	T	35009099	G	T	35009099	2	4	121	1	0	0	0	0	0	0	0	1	4776	1335	47	4		4	DPY19L1	7	35009099	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	3104533	35009099	124129564	180	23253											
AOAH	313	broad.mit.edu	37	chr7	36671702	36671702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaatgtcagaaccacttCtagaatatttctggggagaa	16	10	8	7	0	3	3	1	0	2	3	3	4	3	3	1	2	2	0	1	2	7	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:36671702C>A	ENST00000431169.1	-	6	761	c.461G>T	c.(460-462)aGa>aTa	p.R154I	AOAH_ENST00000535891.1_Missense_Mutation_p.R122I|AOAH_ENST00000258749.5_Missense_Mutation_p.R154I	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	154					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AGAACCACTTCTAGAATATTT	0.388													7	12					0.0381472	0.0393324	1	0	A	36671702	C	A	36671702	3	1	121	1	0	0	0	0	1	0	0	0	727	913	32	2	1671	2	AOAH	7	36671702	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	1662603	36671702	122466961	181	23254											
EPDR1	54749	broad.mit.edu	37	chr7	37989816	37989816	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatagatgaaacctggattGgcatctatacagtcaaggat	14	12	9	6	0	2	2	1	1	1	1	2	4	2	4	1	3	2	1	1	3	6	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:37989816G>C	ENST00000199448.4	+	3	872	c.493G>C	c.(493-495)Ggc>Cgc	p.G165R	EPDR1_ENST00000425345.1_Missense_Mutation_p.G104R|EPDR1_ENST00000559325.1_Missense_Mutation_p.G285R|EPDR1_ENST00000476620.1_Missense_Mutation_p.G63R|EPDR1_ENST00000423717.1_3'UTR	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	165					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AACCTGGATTGGCATCTATAC	0.358													5	20					0	0	0	0	C	37989816	G	C	37989816	3	2	121	1	0	0	0	0	1	0	0	0	5201	1348	47	4	863	4	EPDR1	7	37989816	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1318114	37989816	121148847	182	23255											
ADCY1	107	broad.mit.edu	37	chr7	45614752	45614752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtcacagccaccttggtcCccgccaagcgcccacgtctc	6	7	9	19	3	2	0	1	0	1	0	4	0	3	0	6	2	2	0	6	2	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:45614752C>A	ENST00000297323.7	+	1	632	c.610C>A	c.(610-612)Ccc>Acc	p.P204T	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	204					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CACCTTGGTCCCCGCCAAGCG	0.652													13	24					2.23348e-06	2.53415e-06	1	0	A	45614752	C	A	45614752	3	1	121	1	0	0	0	0	1	0	0	0	292	623	22	4	612	4	ADCY1	7	45614752	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	7624936	45614752	113523911	183	23256											
TNS3	64759	broad.mit.edu	37	chr7	47440030	47440030	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagaagactaattcaacCttcccatagtcaggaaaacg	16	7	8	10	1	2	2	2	0	0	2	3	4	3	3	2	1	2	1	2	1	6	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:47440030C>A	ENST00000398879.1	-	15	1245	c.879G>T	c.(877-879)aaG>aaT	p.K293N	TNS3_ENST00000311160.9_Missense_Mutation_p.K293N|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	293	C2 tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTAATTCAACCTTCCCATAGT	0.428													8	37					1.76689e-08	2.11788e-08	1	0	A	47440030	C	A	47440030	3	1	121	1	0	0	0	0	1	0	0	0	16438	680	24	4	3526	4	TNS3	7	47440030	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	1825278	47440030	111698633	184	23257											
PKD1L1	168507	broad.mit.edu	37	chr7	47944861	47944861	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtattgtttccttggtaacAgctgtaaatgtaatgtctgt	9	17	10	5	0	1	0	0	0	1	0	2	0	2	0	1	2	2	6	1	2	5	7			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:47944861A>T	ENST00000289672.2	-	11	1634	c.1584T>A	c.(1582-1584)gcT>gcA	p.A528A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	528	PKD 1.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCTTGGTAACAGCTGTAAATG	0.418													32	50					0	0	0	0	T	47944861	A	T	47944861	2	4	121	1	0	0	0	0	0	0	0	1	12036	175	7	5		5	PKD1L1	7	47944861	Silent	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	504831	47944861	111193802	185	23258											
ABCA13	154664	broad.mit.edu	37	chr7	48353837	48353837	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattttctcaggtttcacaAaatgtccaggccagaagttc	11	14	7	9	0	2	1	2	0	1	1	5	1	3	1	2	2	0	2	2	2	4	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:48353837A>T	ENST00000435803.1	+	26	9714	c.9690A>T	c.(9688-9690)caA>caT	p.Q3230H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3230					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						AGGTTTCACAAAATGTCCAGG	0.368													6	16					0	0	0	0	T	48353837	A	T	48353837	3	4	121	1	0	0	0	0	1	0	0	0	31	11	1	5	9621	5	ABCA13	7	48353837	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	408976	48353837	110784826	186	23259											
LANCL2	55915	broad.mit.edu	37	chr7	55467659	55467659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattggttagacttttgcaGctccagagatcggttgtctg	7	16	11	7	1	1	2	0	0	1	2	3	3	2	2	1	2	2	4	1	2	2	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:55467659G>T	ENST00000254770.2	+	4	1118	c.540G>T	c.(538-540)caG>caT	p.Q180H	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	180					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GACTTTTGCAGCTCCAGAGAT	0.413													41	46					8.16277e-20	1.13171e-19	1	0	T	55467659	G	T	55467659	3	4	121	1	0	0	0	0	1	0	0	0	8674	962	34	4	554	4	LANCL2	7	55467659	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	7113822	55467659	103671004	187	23260											
SEMA3E	9723	broad.mit.edu	37	chr7	82996929	82996929	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagcgtgtgcctgggcagGcggtaatgctcaggtttgga	6	10	16	9	2	1	0	1	0	0	0	2	1	2	1	2	5	3	4	2	5	1	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:82996929G>A	ENST00000307792.3	-	17	2768	c.2301C>T	c.(2299-2301)cgC>cgT	p.R767R	SEMA3E_ENST00000427262.1_Silent_p.R707R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	767	Arg/Lys-rich (basic).				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCCTGGGCAGGCGGTAATGCT	0.423													54	92					0	0	0	0	A	82996929	G	A	82996929	2	1	121	1	0	0	0	0	0	0	0	1	14115	1190	42	4		4	SEMA3E	7	82996929	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	27529270	82996929	76141734	188	23261											
DYNC1I1	1780	broad.mit.edu	37	chr7	95726843	95726843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgatttgccaggacccttGtggaaattcgtgctaacaga	10	10	10	11	2	0	1	0	0	0	1	1	4	0	3	3	2	3	1	3	2	2	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:95726843G>C	ENST00000324972.6	+	17	2069	c.1876G>C	c.(1876-1878)Gtg>Ctg	p.V626L	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V609L|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V589L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V606L|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V609L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	626					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAGGACCCTTGTGGAAATTCG	0.483													21	31					0	0	0	0	C	95726843	G	C	95726843	3	2	121	1	0	0	0	0	1	0	0	0	4878	1377	48	4	1938	4	DYNC1I1	7	95726843	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	12729914	95726843	63411820	189	23262											
EPHB4	2050	broad.mit.edu	37	chr7	100410581	100410581	+	Frame_Shift_Del	DEL	C	C	-																															gctctccttcttccctggggCcttgagccgcccccggcaca																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:100410581delC	ENST00000358173.3	-	12	2374	c.1906delG	c.(1906-1908)ccfs	p.A636fs	EPHB4_ENST00000360620.3_Frame_Shift_Del_p.A636fs	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	636	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTCCCTGGGGCCTTGAGCCGC	0.637													49	102	---	---	---	---					-	100410581	C	-	100410581	7	5	121	1	0	1	0	1	0	0	0	0	5215	739	26	0	1081	0	EPHB4	7	100410581	Frame_Shift_Del	DEL	C	TCGA-CN-A63W-01A-11D-A30E-08	4683738	100410581	58728082	190	23263											
MUC17	140453	broad.mit.edu	37	chr7	100680662	100680662	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaagcactccactaacaAgtatgcctctcagcaccacg	14	6	7	14	1	1	0	1	0	1	0	3	1	2	1	3	1	4	3	3	1	5	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:100680662A>G	ENST00000306151.4	+	3	6029	c.5965A>G	c.(5965-5967)Agt>Ggt	p.S1989G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1989	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S1989C(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCACTAACAAGTATGCCTCT	0.512													135	224					0	0	0	0	G	100680662	A	G	100680662	3	3	121	1	0	0	0	0	1	0	0	0	10044	72	3	5	5975	5	MUC17	7	100680662	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	270081	100680662	58458001	191	23264											
DNAJC2	27000	broad.mit.edu	37	chr7	102956305	102956305	+	Frame_Shift_Del	DEL	T	T	-																															gcctttttatttatgtcatcTttttgatgagggtctgagaa																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:102956305delT	ENST00000379263.3	-	15	1792	c.1542delA	c.(1540-1542)aafs	p.K514fs	DNAJC2_ENST00000249270.7_Frame_Shift_Del_p.K461fs|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	514					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	p.K472K(1)|p.K461K(1)		endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTATGTCATCTTTTTGATGAG	0.294													13	9	---	---	---	---					-	102956305	T	-	102956305	7	5	121	1	0	1	0	1	0	0	0	0	4675	1606	56	0	335	0	DNAJC2	7	102956305	Frame_Shift_Del	DEL	T	TCGA-CN-A63W-01A-11D-A30E-08	2275643	102956305	56182358	192	23265											
SLC26A5	375611	broad.mit.edu	37	chr7	103048393	103048393	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaccaaaaaccatcagccCgacgcctagggaacacacgt	16	3	7	15	3	1	0	1	0	0	0	1	2	1	1	4	1	4	0	4	1	5	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:103048393C>A	ENST00000306312.3	-	8	1054	c.793G>T	c.(793-795)Ggg>Tgg	p.G265W	SLC26A5_ENST00000393723.1_Missense_Mutation_p.G265W|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000339444.6_Missense_Mutation_p.G265W|SLC26A5_ENST00000393735.2_Missense_Mutation_p.G265W|SLC26A5_ENST00000432958.2_Missense_Mutation_p.G265W|SLC26A5_ENST00000393727.1_Missense_Mutation_p.G265W|SLC26A5_ENST00000356767.4_Missense_Mutation_p.G265W|SLC26A5_ENST00000393730.1_Missense_Mutation_p.G265W|SLC26A5_ENST00000393729.1_Missense_Mutation_p.G228W	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	265					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ACCATCAGCCCGACGCCTAGG	0.443													18	41					6.94344e-10	8.55445e-10	1	0	A	103048393	C	A	103048393	3	1	121	1	0	0	0	0	1	0	0	0	14608	652	23	3	1534	3	SLC26A5	7	103048393	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	92088	103048393	56090270	193	23266											
NRCAM	4897	broad.mit.edu	37	chr7	107836287	107836287	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgacctggtagagtgtgtTtgcaggtgtgaggattcgtg	8	13	16	4	1	0	3	0	2	0	1	1	4	0	4	1	3	1	3	1	3	2	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:107836287T>C	ENST00000379028.3	-	15	1851	c.1381A>G	c.(1381-1383)Aac>Gac	p.N461D	NRCAM_ENST00000379024.4_Missense_Mutation_p.N442D|NRCAM_ENST00000379022.4_Missense_Mutation_p.N461D|NRCAM_ENST00000351718.4_Missense_Mutation_p.N455D|NRCAM_ENST00000425651.2_Missense_Mutation_p.N461D|NRCAM_ENST00000413765.2_Missense_Mutation_p.N442D			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	461	Ig-like 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TAGAGTGTGTTTGCAGGTGTG	0.403													7	13					0	0	0	0	C	107836287	T	C	107836287	3	2	121	1	0	0	0	0	1	0	0	0	10715	1841	64	5	2639	5	NRCAM	7	107836287	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	4787894	107836287	51302376	194	23267											
PTN	5764	broad.mit.edu	37	chr7	136938242	136938242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccagttgcaggggatCttacatctctgggtcttcat	6	16	9	10	0	5	0	1	0	4	0	7	1	6	1	1	3	2	2	1	3	1	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:136938242C>A	ENST00000348225.2	-	3	685	c.258G>T	c.(256-258)aaG>aaT	p.K86N	PTN_ENST00000393083.2_Missense_Mutation_p.K86N	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	86					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.K86N(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TGCAGGGGATCTTACATCTCT	0.502													23	12					9.39395e-14	1.22259e-13	1	0	A	136938242	C	A	136938242	3	1	121	1	0	0	0	0	1	0	0	0	12848	912	32	2	260	2	PTN	7	136938242	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	29101955	136938242	22200421	195	23268											
OR2F1	26211	broad.mit.edu	37	chr7	143657796	143657796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacacgtgtgcctctcacCtcacagtggttgccctgtgc	5	11	9	16	1	2	0	2	0	1	0	4	0	3	0	4	1	3	1	4	1	0	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:143657796C>A	ENST00000392899.1	+	1	770	c.733C>A	c.(733-735)Ctc>Atc	p.L245I		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGCCTCTCACCTCACAGTGGT	0.493													24	15					1.10513e-12	1.43128e-12	1	0	A	143657796	C	A	143657796	3	1	121	1	0	0	0	0	1	0	0	0	11067	681	24	4	735	4	OR2F1	7	143657796	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	6719554	143657796	15480867	196	23269											
KRBA1	84626	broad.mit.edu	37	chr7	149431122	149431123	+	Frame_Shift_Ins	INS	-	-	G																															ggagcacagggacccgagatINSggggggcgcattgatggcat																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:149431122_149431123insG	ENST00000255992.10	+	18	3475_3476	c.3076_3077insG	c.(3076-3078)gggfs	p.G1026fs	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Frame_Shift_Ins_p.G966fs|KRBA1_ENST00000485033.2_Frame_Shift_Ins_p.G966fs	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	1027										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGACCCGAGATGGGGGGCGCAT	0.663													6	6	---	---	---	---					G	149431123	-	G	149431122	7	5	121	1	0	1	1	0	0	0	0	0	8491	1464	51	0	3140	0	KRBA1	7	149431122	Frame_Shift_Ins	INS	-	TCGA-CN-A63W-01A-11D-A30E-08	5773326	149431122	9707541	197	23270											
SSPO	23145	broad.mit.edu	37	chr7	149506177	149506177	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtgctccgtgccctgtGgtggtggctacaggaaccgc	4	9	14	14	3	0	0	0	0	0	0	2	1	2	1	4	4	4	2	4	4	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:149506177G>C	ENST00000378016.2	+	0	9169							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGTGCCCTGTGGTGGTGGCTA	0.701													4	3					0	0	0	0	C	149506177	G	C	149506177	1	2	121	0	1	0	0	0	0	0	0	0	15279	1348	47	4		4	SSPO	7	149506177	RNA	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	75055	149506177	9632486	198	23271											
ADAM7	8756	broad.mit.edu	37	chr8	24339681	24339681	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccttaaacatccatgtGacgttggttggcattgaaat	14	12	8	7	1	0	2	0	2	0	0	1	2	1	2	2	2	2	3	2	2	5	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:24339681G>T	ENST00000175238.6	+	9	815	c.732G>T	c.(730-732)gtG>gtT	p.V244V	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Silent_p.V244V|ADAM7_ENST00000520720.1_Silent_p.V16V|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	244	Peptidase M12B.		V -> M (in dbSNP:rs13255694).		proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACATCCATGTGACGTTGGTTG	0.294													5	19					0.184627	0.186737	1	0	T	24339681	G	T	24339681	2	4	121	1	0	0	0	0	0	0	0	1	251	1277	45	2		2	ADAM7	8	24339681	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08		24339681	122024341	199	23272											
PRKDC	5591	broad.mit.edu	37	chr8	48839755	48839755	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattcttctaaacattaccTgacaaggctgaagtcttcag	13	12	6	10	0	4	2	1	2	3	0	4	2	4	2	1	1	2	1	1	1	6	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:48839755T>A	ENST00000314191.2	-	21	2474	c.2419_splice	c.e21+1	p.S806_splice	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Splice_Site_p.S806_splice	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	806					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAACATTACCTGACAAGGCTG	0.343								Non-homologous end-joining					13	21					0	0	0	0	A	48839755	T	A	48839755	5	1	121	1	0	0	0	0	0	0	1	0	12601	1594	55	5	10231	5	PRKDC	8	48839755	Splice_Site	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	24500074	48839755	97524267	200	23273											
SNTG1	54212	broad.mit.edu	37	chr8	51664595	51664595	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtataaattctctcagcttaAaggttcttcagatgatggca	12	14	8	7	0	4	2	2	1	2	1	5	2	4	2	0	2	1	4	0	2	5	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:51664595A>C	ENST00000522124.1	+	18	1980	c.1319A>C	c.(1318-1320)aAa>aCa	p.K440T	SNTG1_ENST00000276467.5_Intron|SNTG1_ENST00000518864.1_Missense_Mutation_p.K440T|SNTG1_ENST00000517473.1_Intron	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	440					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCTCAGCTTAAAGGTTCTTCA	0.348													28	94					0	0	0	0	C	51664595	A	C	51664595	3	2	121	1	0	0	0	0	1	0	0	0	14962	14	1	5	1381	5	SNTG1	8	51664595	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	2824840	51664595	94699427	201	23274											
PXDNL	137902	broad.mit.edu	37	chr8	52370189	52370189	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgtgccatcatcaaacAcattaagtcgagtatcatct	13	12	7	9	1	4	1	3	1	1	0	5	2	4	1	1	0	2	1	1	0	3	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:52370189A>T	ENST00000356297.4	-	9	951	c.851T>A	c.(850-852)gTg>gAg	p.V284E	PXDNL_ENST00000543296.1_Missense_Mutation_p.V284E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	284	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATCATCAAACACATTAAGTCG	0.403													34	110					0	0	0	0	T	52370189	A	T	52370189	3	4	121	1	0	0	0	0	1	0	0	0	12930	159	6	5	3600	5	PXDNL	8	52370189	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	705594	52370189	93993833	202	23275											
RP1	6101	broad.mit.edu	37	chr8	55540556	55540556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgacattcagaaagatCtaaatattttgacagaccct	15	12	7	7	0	2	6	1	3	1	3	2	6	2	6	1	0	0	0	1	0	4	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:55540556C>A	ENST00000220676.1	+	4	4262	c.4114C>A	c.(4114-4116)Cta>Ata	p.L1372I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1372					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGAAAGATCTAAATATTTT	0.333													42	39					2.6416e-12	3.39634e-12	1	0	A	55540556	C	A	55540556	3	1	121	1	0	0	0	0	1	0	0	0	13617	912	32	2	4124	2	RP1	8	55540556	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	3170367	55540556	90823466	203	23276											
CA8	767	broad.mit.edu	37	chr8	61137132	61137132	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggattaaagcaaggtattgTtttggacttcccctgaaaaa	14	12	9	6	0	0	1	0	1	0	0	1	3	1	3	2	3	1	3	2	3	6	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:61137132T>C	ENST00000317995.4	-	6	853	c.589A>G	c.(589-591)Aca>Gca	p.T197A	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	197					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CAAGGTATTGTTTTGGACTTC	0.264													32	83					0	0	0	0	C	61137132	T	C	61137132	3	2	121	1	0	0	0	0	1	0	0	0	2548	1725	60	5	295	5	CA8	8	61137132	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	5596576	61137132	85226890	204	23277											
SULF1	23213	broad.mit.edu	37	chr8	70550989	70550989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacaaatacagtgcacaCggtagaacgaggcattttga	14	8	10	9	2	1	2	1	1	0	1	1	3	1	2	0	2	3	4	0	2	4	4	rs111626231		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:70550989C>T	ENST00000260128.4	+	21	3164	c.2447C>T	c.(2446-2448)aCg>aTg	p.T816M	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.T816M|SULF1_ENST00000419716.3_Missense_Mutation_p.T816M|SULF1_ENST00000402687.4_Missense_Mutation_p.T816M	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	816					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACAGTGCACACGGTAGAACGA	0.388													24	84					0	0	0	0	T	70550989	C	T	70550989	3	4	121	1	0	0	0	0	1	0	0	0	15460	536	19	1	2513	1	SULF1	8	70550989	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	9413857	70550989	75813033	205	23278											
KCNB2	9312	broad.mit.edu	37	chr8	73479975	73479975	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtccagttcaaaatggcAgaaaaggctcccccgggctt	10	10	10	11	1	1	1	1	0	0	1	3	1	3	1	3	3	0	4	3	3	4	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:73479975A>T	ENST00000523207.1	+	2	594	c.6A>T	c.(4-6)gcA>gcT	p.A2A		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	2					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCAAAATGGCAGAAAAGGCTC	0.507													28	95					0	0	0	0	T	73479975	A	T	73479975	2	4	121	1	0	0	0	0	0	0	0	1	8066	175	7	5		5	KCNB2	8	73479975	Silent	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	2928986	73479975	72884047	206	23279											
KCNB2	9312	broad.mit.edu	37	chr8	73848398	73848398	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggcccactgaatgtcattGatttgctggccatcttgccg	8	12	10	11	1	2	2	1	2	1	0	2	2	2	2	3	2	2	1	3	2	2	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:73848398G>C	ENST00000523207.1	+	3	1396	c.808G>C	c.(808-810)Gat>Cat	p.D270H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	270					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAATGTCATTGATTTGCTGGC	0.468													35	62					0	0	0	0	C	73848398	G	C	73848398	3	2	121	1	0	0	0	0	1	0	0	0	8066	1290	45	2	814	2	KCNB2	8	73848398	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	368423	73848398	72515624	207	23280											
ZFHX4	79776	broad.mit.edu	37	chr8	77616341	77616341	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatggaaacctgtgactcCcctcctatctcaaggcagga	10	8	9	14	0	1	1	1	1	1	0	4	3	3	3	5	3	1	1	5	3	3	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:77616341C>G	ENST00000521891.2	+	2	466	c.18C>G	c.(16-18)tcC>tcG	p.S6S	ZFHX4_ENST00000455469.2_Silent_p.S6S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.S6S|ZFHX4_ENST00000518282.1_Silent_p.S6S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTGTGACTCCCCTCCTATCT	0.463										HNSCC(33;0.089)			10	17					0	0	0	0	G	77616341	C	G	77616341	2	3	121	1	0	0	0	0	0	0	0	1	17730	610	22	4		4	ZFHX4	8	77616341	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	3767943	77616341	68747681	208	23281											
ZFHX4	79776	broad.mit.edu	37	chr8	77618402	77618402	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggggtgagagttacacGtgtggctataaacccttccg	8	9	13	11	3	0	1	0	1	0	1	1	2	1	1	3	3	2	2	3	3	4	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:77618402G>C	ENST00000521891.2	+	2	2527	c.2079G>C	c.(2077-2079)acG>acC	p.T693T	ZFHX4_ENST00000455469.2_Silent_p.T693T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.T693T|ZFHX4_ENST00000518282.1_Silent_p.T693T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	693						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAGTTACACGTGTGGCTATA	0.507										HNSCC(33;0.089)			8	36					0	0	0	0	C	77618402	G	C	77618402	2	2	121	1	0	0	0	0	0	0	0	1	17730	1132	40	3		3	ZFHX4	8	77618402	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2061	77618402	68745620	209	23282											
TMEM74	157753	broad.mit.edu	37	chr8	109796736	109796736	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtcacttcccgtgggaCgatgtaagagatgatcacga	12	8	11	10	3	2	2	2	1	0	1	3	6	3	3	1	1	0	1	1	1	1	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:109796736C>G	ENST00000297459.3	-	2	770	c.592G>C	c.(592-594)Gtc>Ctc	p.V198L	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	198					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TCCCGTGGGACGATGTAAGAG	0.572													14	37					0	0	0	0	G	109796736	C	G	109796736	3	3	121	1	0	0	0	0	1	0	0	0	16296	536	19	3	329	3	TMEM74	8	109796736	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	32178334	109796736	36567286	210	23283											
PKHD1L1	93035	broad.mit.edu	37	chr8	110520439	110520439	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcctgacacagaaactCgaagactttccccagtggct	11	9	9	12	1	0	3	0	1	0	2	3	5	2	4	3	2	1	1	3	2	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:110520439C>A	ENST00000378402.5	+	70	11445	c.11341C>A	c.(11341-11343)Cga>Aga	p.R3781R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3781					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.R3785R(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CACAGAAACTCGAAGACTTTC	0.393										HNSCC(38;0.096)			23	150					1.85244e-09	2.2717e-09	1	0	A	110520439	C	A	110520439	2	1	121	1	0	0	0	0	0	0	0	1	12044	876	31	3		3	PKHD1L1	8	110520439	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	723703	110520439	35843583	211	23284											
KCNV1	27012	broad.mit.edu	37	chr8	110984518	110984518	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccagctttagcatgcgCagagccctgagcagcctcaa	9	7	10	15	1	1	2	1	1	0	1	1	2	1	2	3	0	7	4	3	0	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:110984518C>A	ENST00000524391.1	-	3	1992	c.960G>T	c.(958-960)ctG>ctT	p.L320L	KCNV1_ENST00000297404.1_Silent_p.L320L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	320						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTAGCATGCGCAGAGCCCTGA	0.507													9	23					0.000274275	0.000299056	1	0	A	110984518	C	A	110984518	2	1	121	1	0	0	0	0	0	0	0	1	8147	697	25	4		4	KCNV1	8	110984518	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	464079	110984518	35379504	212	23285											
CSMD3	114788	broad.mit.edu	37	chr8	113668482	113668482	+	Nonsense_Mutation	SNP	G	G	A																															aaatagaaactggggcacttGggtgccattgtaagatccaa																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:113668482G>A	ENST00000297405.5	-	18	3149	c.2905C>T	c.(2905-2907)Caa>Taa	p.Q969*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q929*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q865*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q969*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	969	CUB 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGGGCACTTGGGTGCCATTG	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	44					0	0	0	0	A	113668482	G	A	113668482	4	1	121	1	0	0	0	0	0	1	0	0	3978	1357	47	4	8434	4	CSMD3	8	113668482	Nonsense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2683964	113668482	32695540	213	23286	193	2									
CSMD3	114788	broad.mit.edu	37	chr8	113668483	113668483	+	Silent	SNP	G	G	T																															aatagaaactggggcacttgGgtgccattgtaagatccaag																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:113668483G>T	ENST00000297405.5	-	18	3148	c.2904C>A	c.(2902-2904)acC>acA	p.T968T	CSMD3_ENST00000343508.3_Silent_p.T928T|CSMD3_ENST00000455883.2_Silent_p.T864T|CSMD3_ENST00000352409.3_Silent_p.T968T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	968	CUB 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGGCACTTGGGTGCCATTGT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	44					2.32078e-09	2.82646e-09	1	0	T	113668483	G	T	113668483	2	4	121	1	0	0	0	0	0	0	0	1	3978	1219	43	4		4	CSMD3	8	113668483	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1	113668483	32695539	214	23287	193	2									
SNTB1	6641	broad.mit.edu	37	chr8	121705982	121705982	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagtgacgtagcacattttGagggggatgcttttccggtc	7	12	14	8	3	0	2	0	2	0	0	2	4	1	3	1	3	2	3	1	3	1	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:121705982G>C	ENST00000395601.3	-	3	1152	c.738C>G	c.(736-738)ctC>ctG	p.L246L	SNTB1_ENST00000517992.1_Silent_p.L246L|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	246	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AGCACATTTTGAGGGGGATGC	0.567													10	66					0	0	0	0	C	121705982	G	C	121705982	2	2	121	1	0	0	0	0	0	0	0	1	14960	1277	45	2		2	SNTB1	8	121705982	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	8037499	121705982	24658040	215	23288											
ADCY8	114	broad.mit.edu	37	chr8	131861907	131861907	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagatgatgacgttccGggccaaataggtctcattaa	13	10	10	8	2	1	3	1	2	1	1	3	3	2	3	2	2	1	2	2	2	4	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:131861907G>T	ENST00000286355.5	-	10	4445	c.2353C>A	c.(2353-2355)Cgg>Agg	p.R785R	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	785					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGACGTTCCGGGCCAAATAG	0.468										HNSCC(32;0.087)			20	40					3.62473e-10	4.50757e-10	1	0	T	131861907	G	T	131861907	2	4	121	1	0	0	0	0	0	0	0	1	300	1115	39	3		3	ADCY8	8	131861907	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	10155925	131861907	14502115	216	23289											
ADCY8	114	broad.mit.edu	37	chr8	132052173	132052173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaaatccgagttgctaGgggcacagtcaaggtgcagg	13	6	15	7	1	1	1	1	0	0	1	2	3	2	1	1	4	2	4	1	4	4	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:132052173G>A	ENST00000286355.5	-	1	2499	c.407C>T	c.(406-408)cCt>cTt	p.P136L	ADCY8_ENST00000377928.3_Missense_Mutation_p.P136L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	136					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGAGTTGCTAGGGGCACAGTC	0.612										HNSCC(32;0.087)			6	6					0	0	0	0	A	132052173	G	A	132052173	3	1	121	1	0	0	0	0	1	0	0	0	300	1000	35	4	3420	4	ADCY8	8	132052173	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	190266	132052173	14311849	217	23290											
TG	7038	broad.mit.edu	37	chr8	133911137	133911137	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctccaaaagacctgttCgtcccagcctgcctagaagt	10	9	7	15	1	1	2	0	0	1	2	4	2	2	2	6	0	2	1	6	0	4	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:133911137C>A	ENST00000220616.4	+	14	3352	c.3312C>A	c.(3310-3312)ttC>ttA	p.F1104L	TG_ENST00000377869.1_Missense_Mutation_p.F1104L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1104	Thyroglobulin type-1 9.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.F1104F(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGACCTGTTCGTCCCAGCCT	0.517													11	29					1.08611e-07	1.27312e-07	1	0	A	133911137	C	A	133911137	3	1	121	1	0	0	0	0	1	0	0	0	15907	883	31	3	3366	3	TG	8	133911137	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	1858964	133911137	12452885	218	23291											
DOCK8	81704	broad.mit.edu	37	chr9	286539	286539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaacagcctggatgtgcagCttgcccaggagctcggggac	8	7	15	11	1	0	1	0	1	0	0	1	4	0	4	2	4	6	3	2	4	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:286539C>T	ENST00000432829.2	+	3	347	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F	DOCK8_ENST00000469391.1_Missense_Mutation_p.L11F|DOCK8_ENST00000453981.1_Missense_Mutation_p.L79F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	79					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGATGTGCAGCTTGCCCAGGA	0.547													15	6					0	0	0	0	T	286539	C	T	286539	3	4	121	1	0	0	0	0	1	0	0	0	4729	797	28	4	245	4	DOCK8	9	286539	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08		286539	140926892	219	23292											
RANBP6	26953	broad.mit.edu	37	chr9	6013855	6013855	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcatcacatttgatgCatcttgcataaatttttcct	10	16	5	10	0	2	1	1	1	1	0	3	1	3	1	1	0	4	4	1	0	2	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:6013855C>G	ENST00000259569.5	-	1	1763	c.1753G>C	c.(1753-1755)Gca>Cca	p.A585P	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	585					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ACATTTGATGCATCTTGCATA	0.413													69	37					0	0	0	0	G	6013855	C	G	6013855	3	3	121	1	0	0	0	0	1	0	0	0	13113	710	25	4	1568	4	RANBP6	9	6013855	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	5727316	6013855	135199576	220	23293											
OR13J1	392309	broad.mit.edu	37	chr9	35869556	35869556	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggttcagcatggtcgtGaccatggcatagaggactgt	8	10	16	7	1	1	2	1	1	0	1	2	3	1	3	1	5	1	3	1	5	1	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:35869556G>T	ENST00000377981.2	-	1	905	c.843C>A	c.(841-843)gtC>gtA	p.V281V		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCATGGTCGTGACCATGGCAT	0.557													9	12					5.4927e-09	6.62869e-09	1	0	T	35869556	G	T	35869556	2	4	121	1	0	0	0	0	0	0	0	1	11015	1277	45	2		2	OR13J1	9	35869556	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	29855701	35869556	105343875	221	23294											
APBA1	320	broad.mit.edu	37	chr9	72131021	72131021	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgggctcgtcgggggtgTaaggcgaacggatggtcctg	5	10	18	8	4	0	0	0	0	0	0	3	2	1	1	1	6	1	2	1	6	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:72131021T>C	ENST00000265381.4	-	2	1328	c.1106A>G	c.(1105-1107)tAc>tGc	p.Y369C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	369	Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCGGGGGTGTAAGGCGAACG	0.597													33	59					0	0	0	0	C	72131021	T	C	72131021	3	2	121	1	0	0	0	0	1	0	0	0	757	1638	57	5	1455	5	APBA1	9	72131021	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	36261465	72131021	69082410	222	23295											
TRPM3	80036	broad.mit.edu	37	chr9	73151799	73151799	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacatagatgtctatacaCgatgatggtcttctggaatc	12	12	10	7	1	3	3	0	1	3	2	4	6	3	4	0	2	1	0	0	2	4	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:73151799C>A	ENST00000377110.2	-	25	4437	c.4194G>T	c.(4192-4194)tcG>tcT	p.S1398S	TRPM3_ENST00000360823.2_Silent_p.S1260S|TRPM3_ENST00000396292.4_Silent_p.S1270S|TRPM3_ENST00000408909.2_Silent_p.S1257S|TRPM3_ENST00000377105.1_Silent_p.S1257S|TRPM3_ENST00000396285.1_Silent_p.S1257S|TRPM3_ENST00000358082.3_Silent_p.S1260S|TRPM3_ENST00000357533.2_Silent_p.S1402S|TRPM3_ENST00000423814.3_Silent_p.S1425S|TRPM3_ENST00000396280.5_Silent_p.S1247S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377106.1_Silent_p.S1270S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1423						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGTCTATACACGATGATGGTC	0.507													33	44					1.30988e-24	1.85975e-24	1	0	A	73151799	C	A	73151799	2	1	121	1	0	0	0	0	0	0	0	1	16682	523	19	3		3	TRPM3	9	73151799	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	1020778	73151799	68061632	223	23296											
VPS13A	23230	broad.mit.edu	37	chr9	79980395	79980395	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgagctttttcataaagAtatagaagctttcaaagaag	15	13	9	4	0	2	4	2	1	0	3	2	4	2	4	0	1	2	3	0	1	7	7			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:79980395A>T	ENST00000360280.3	+	60	8491	c.8231A>T	c.(8230-8232)gAt>gTt	p.D2744V	VPS13A_ENST00000357409.5_Missense_Mutation_p.D2744V|VPS13A_ENST00000376634.4_Missense_Mutation_p.D2744V|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2705V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2744					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTCATAAAGATATAGAAGCT	0.323													7	24					0	0	0	0	T	79980395	A	T	79980395	3	4	121	1	0	0	0	0	1	0	0	0	17285	333	12	5	8469	5	VPS13A	9	79980395	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	6828596	79980395	61233036	224	23297											
KIF27	55582	broad.mit.edu	37	chr9	86518413	86518413	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtgggtttgtttctaatGttccgtgctctgttggcata	6	17	11	7	1	2	0	0	0	2	0	3	0	3	0	1	2	1	6	1	2	2	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:86518413G>A	ENST00000297814.2	-	4	1163	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	KIF27_ENST00000334204.2_Silent_p.N340N|KIF27_ENST00000413982.1_Silent_p.N340N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	340					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTTTCTAATGTTCCGTGCTC	0.438													28	68					0	0	0	0	A	86518413	G	A	86518413	2	1	121	1	0	0	0	0	0	0	0	1	8347	1368	48	4		4	KIF27	9	86518413	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	6538018	86518413	54695018	225	23298											
PTPDC1	138639	broad.mit.edu	37	chr9	96863913	96863922	+	Frame_Shift_Del	DEL	ATGCAGCTTG	ATGCAGCTTG	-																															gagagggaccctttcatcctAtgcagcttgatgtggtcttg																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:96863913_96863922delATGCAGCTTG	ENST00000375360.3	+	8	2257_2266	c.1917_1926delATGCAGCTTG	c.(1915-1926)ctfs	p.LCSL639fs	PTPDC1_ENST00000288976.3_Frame_Shift_Del_p.LCSL691fs|PTPDC1_ENST00000467049.1_3'UTR	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	639							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CTTTCATCCTATGCAGCTTGATGTGGTCTT	0.476													10	131	---	---	---	---					-	96863922	ATGCAGCTTG	-	96863913	7	5	121	1	0	1	0	1	0	0	0	0	12853	436	16	0	2185	0	PTPDC1	9	96863913	Frame_Shift_Del	DEL	ATGCAGCTTG	TCGA-CN-A63W-01A-11D-A30E-08	10345500	96863913	44349518	226	23299											
OR13C3	138803	broad.mit.edu	37	chr9	107299059	107299059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaaatgtatttactgcCaagaaacaaacagtacaaat	20	9	5	7	0	0	2	0	1	0	1	0	2	0	2	1	0	5	2	1	0	8	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:107299059C>A	ENST00000374781.2	-	1	78	c.36G>T	c.(34-36)ttG>ttT	p.L12F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	12					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						TATTTACTGCCAAGAAACAAA	0.353													16	22					3.52763e-06	3.96859e-06	1	0	A	107299059	C	A	107299059	3	1	121	1	0	0	0	0	1	0	0	0	11006	593	21	4	1011	4	OR13C3	9	107299059	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	10435146	107299059	33914372	227	23300											
PTPN3	5774	broad.mit.edu	37	chr9	112172686	112172686	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgccggattgttctcGgataaactccttcatcatgg	7	15	9	10	2	3	0	2	0	1	0	5	2	4	2	2	3	2	1	2	3	2	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:112172686G>A	ENST00000412145.1	-	10	3483	c.930C>T	c.(928-930)tcC>tcT	p.S310S	PTPN3_ENST00000394827.3_5'UTR|PTPN3_ENST00000446349.1_Silent_p.S265S|PTPN3_ENST00000374541.2_Silent_p.S441S|PTPN3_ENST00000262539.3_Silent_p.S287S	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	441	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GATTGTTCTCGGATAAACTCC	0.488													33	62					0	0	0	0	A	112172686	G	A	112172686	2	1	121	1	0	0	0	0	0	0	0	1	12871	1103	39	1		1	PTPN3	9	112172686	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	4873627	112172686	29040745	228	23301											
RNF183	138065	broad.mit.edu	37	chr9	116060063	116060063	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagacacggtggcagaggcCgtgtctgggggcggcccagt	6	6	19	10	3	1	2	0	0	1	2	1	2	1	2	2	6	0	2	2	6	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:116060063C>A	ENST00000478815.1	-	1	1982	c.402G>T	c.(400-402)acG>acT	p.T134T	RNF183_ENST00000441031.3_Silent_p.T134T|RNF183_ENST00000297894.5_Silent_p.T134T|RNF183_ENST00000416588.2_Silent_p.T134T			Q96D59	RN183_HUMAN	ring finger protein 183	134						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						TGGCAGAGGCCGTGTCTGGGG	0.642													38	30					2.04263e-09	2.49917e-09	1	0	A	116060063	C	A	116060063	2	1	121	1	0	0	0	0	0	0	0	1	13552	639	23	3		3	RNF183	9	116060063	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	3887377	116060063	25153368	229	23302											
OR1L4	254973	broad.mit.edu	37	chr9	125486317	125486317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcaggcttcatcctcctgGgcctctcttccaaccctaag	6	11	6	18	0	3	0	2	0	1	0	7	0	6	0	6	2	1	1	6	2	2	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:125486317G>T	ENST00000259466.1	+	1	49	c.49G>T	c.(49-51)Ggc>Tgc	p.G17C		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CATCCTCCTGGGCCTCTCTTC	0.498													59	145					3.30226e-22	4.676e-22	1	0	T	125486317	G	T	125486317	3	4	121	1	0	0	0	0	1	0	0	0	11036	1232	43	4	51	4	OR1L4	9	125486317	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	9426254	125486317	15727114	230	23303											
SLC25A25	114789	broad.mit.edu	37	chr9	130865985	130865985	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtgggtgagaatctaaCggtcccggatgagttcacag	10	10	14	7	2	2	3	1	3	1	1	3	5	3	4	1	3	1	1	1	3	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:130865985C>G	ENST00000373066.5	+	6	1015	c.608C>G	c.(607-609)aCg>aGg	p.T203R	SLC25A25_ENST00000432073.2_Missense_Mutation_p.T191R|SLC25A25_ENST00000433501.1_Missense_Mutation_p.T68R|SLC25A25_ENST00000373068.2_Missense_Mutation_p.T205R|SLC25A25_ENST00000373064.5_Missense_Mutation_p.T171R|SLC25A25_ENST00000373069.5_Missense_Mutation_p.T217R	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	171					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GAGAATCTAACGGTCCCGGAT	0.602													4	83					0	0	0	0	G	130865985	C	G	130865985	3	3	121	1	0	0	0	0	1	0	0	0	14576	536	19	3	1018	3	SLC25A25	9	130865985	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	5379668	130865985	10347446	231	23304											
COL5A1	1289	broad.mit.edu	37	chr9	137591783	137591783	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcccgaggacttctccatCctaacaactgtgaaagccaa	12	10	6	13	1	1	1	0	1	1	0	4	3	3	2	4	1	3	0	4	1	4	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:137591783C>A	ENST00000371817.3	+	3	720	c.306C>A	c.(304-306)atC>atA	p.I102I	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	102	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTTCTCCATCCTAACAACTG	0.587													18	65					0.204396	0.206339	1	0	A	137591783	C	A	137591783	2	1	121	1	0	0	0	0	0	0	0	1	3726	845	30	2		2	COL5A1	9	137591783	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	6725798	137591783	3621648	232	23305											
SNAPC4	6621	broad.mit.edu	37	chr9	139272616	139272616	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctgagggggaccccggCgtcccccttggctcagttgc	3	8	14	16	2	1	1	1	1	0	0	3	2	3	2	5	4	1	2	5	4	0	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:139272616C>A	ENST00000298532.2	-	21	4031	c.3663G>T	c.(3661-3663)acG>acT	p.T1221T		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	1221	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGGACCCCGGCGTCCCCCTTG	0.706													6	7					2.7689e-08	3.31145e-08	1	0	A	139272616	C	A	139272616	2	1	121	1	0	0	0	0	0	0	0	1	14925	755	27	3		3	SNAPC4	9	139272616	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	1680833	139272616	1940815	233	23306											
NOTCH1	4851	broad.mit.edu	37	chr9	139418283	139418283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggggtgtcaggcagaGgggcccagagaagcccaggg	9	3	19	10	0	1	2	1	0	0	2	2	3	2	2	3	6	1	1	3	6	1	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:139418283G>C	ENST00000277541.6	-	3	364	c.289C>G	c.(289-291)Ctc>Gtc	p.L97V	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	97	EGF-like 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCAGGCAGAGGGGCCCAGAG	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			13	13					0	0	0	0	C	139418283	G	C	139418283	3	2	121	1	0	0	0	0	1	0	0	0	10617	1000	35	4	7506	4	NOTCH1	9	139418283	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	145667	139418283	1795148	234	23307											
FAM69B	138311	broad.mit.edu	37	chr9	139616668	139616668	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccggtcggatgcggcccCccggcgggagctggtactgt	3	6	18	14	5	0	0	0	0	0	0	1	2	0	2	4	7	3	2	4	7	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:139616668C>G	ENST00000371691.1	+	2	1236	c.137C>G	c.(136-138)cCc>cGc	p.P46R	SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371692.4_Missense_Mutation_p.P133R			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	133						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		GATGCGGCCCCCCGGCGGGAG	0.627													5	43					0	0	0	0	G	139616668	C	G	139616668	3	3	121	1	0	0	0	0	1	0	0	0	5649	623	22	4	412	4	FAM69B	9	139616668	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	198385	139616668	1596763	235	23308											
CACNA1B	774	broad.mit.edu	37	chr9	141006849	141006849	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaccatcatcctggtgcaGctgggacaaagcagcatcag	11	6	10	14	0	2	0	2	0	0	0	3	1	3	1	3	2	4	4	3	2	1	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:141006849G>A	ENST00000277549.5	+	40	5579		c.e40-1		CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000371372.1_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site|CACNA1B_ENST00000371365.2_Splice_Site|CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000371357.1_Splice_Site			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCTGGTGCAGCTGGGACAAA	0.572													19	31					0	0	0	0	A	141006849	G	A	141006849	5	1	121	1	0	0	0	0	0	0	1	0	2564	985	34	4	5582	4	CACNA1B	9	141006849	Splice_Site	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1390181	141006849	206582	236	23309											
CACNA1B	774	broad.mit.edu	37	chr9	141016147	141016147	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgaacacaacgccctgcTgcagagagaccccctcagcc	10	5	8	18	2	1	2	1	0	0	2	2	4	2	2	5	0	5	2	5	0	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:141016147T>A	ENST00000277549.5	+	47	6867	c.4298T>A	c.(4297-4299)cTg>cAg	p.L1433Q	CACNA1B_ENST00000371363.1_Missense_Mutation_p.L2237Q|CACNA1B_ENST00000371372.1_Missense_Mutation_p.L2239Q|CACNA1B_ENST00000277551.2_Missense_Mutation_p.C2177S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L2240Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L2238Q			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2239					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AACGCCCTGCTGCAGAGAGAC	0.672													23	25					0	0	0	0	A	141016147	T	A	141016147	3	1	121	1	0	0	0	0	1	0	0	0	2564	1580	55	5	6898	5	CACNA1B	9	141016147	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	9298	141016147	197284	237	23310											
DIP2C	22982	broad.mit.edu	37	chr10	323371	323371	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgatggggatgacgccgAtgtccaccacgaccaccact	10	7	11	13	3	0	2	0	2	0	0	1	5	1	3	5	2	0	1	5	2	0	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:323371A>T	ENST00000280886.6	-	37	4652	c.4565T>A	c.(4564-4566)aTc>aAc	p.I1522N		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1522						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GATGACGCCGATGTCCACCAC	0.592													21	17					0	0	0	0	T	323371	A	T	323371	3	4	121	1	0	0	0	0	1	0	0	0	4566	333	12	5	109	5	DIP2C	10	323371	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08		323371	135211376	238	23311											
ANKRD16	54522	broad.mit.edu	37	chr10	5931249	5931249	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccgcctgcagctcctcCttcagggcgcgcagccggcc	3	5	13	20	5	1	0	1	0	0	0	3	0	3	0	7	3	3	3	7	3	0	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:5931249C>A	ENST00000380094.5	-	1	612	c.69G>T	c.(67-69)aaG>aaT	p.K23N	ANKRD16_ENST00000380092.4_Missense_Mutation_p.K23N|ANKRD16_ENST00000191063.8_Missense_Mutation_p.K23N	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	23										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GCAGCTCCTCCTTCAGGGCGC	0.801													2	0					0.0784	0.0800585	1	0	A	5931249	C	A	5931249	3	1	121	1	0	0	0	0	1	0	0	0	645	680	24	4	1044	4	ANKRD16	10	5931249	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	5607878	5931249	129603498	239	23312											
CELF2	10659	broad.mit.edu	37	chr10	11330515	11330515	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggagccctcacgagtcccGgtgagtgtggggggtgctct	4	9	18	10	2	2	1	1	1	1	0	3	3	3	2	2	5	2	1	2	5	0	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:11330515G>T	ENST00000379261.4	+	9	1047	c.955_splice	c.e9+1	p.V319_splice	CELF2_ENST00000416382.2_Splice_Site_p.V319_splice|CELF2_ENST00000354440.2_Splice_Site_p.V295_splice|CELF2_ENST00000450189.1_Splice_Site_p.V326_splice|CELF2_ENST00000399850.3_Splice_Site_p.V295_splice|CELF2_ENST00000354897.3_Splice_Site_p.V295_splice|CELF2_ENST00000417956.2_Splice_Site_p.V295_splice|CELF2_ENST00000427450.1_Splice_Site_p.V295_splice|CELF2_ENST00000315874.3_Splice_Site_p.V295_splice|CELF2_ENST00000542579.1_Splice_Site_p.V326_splice|CELF2_ENST00000537122.1_Splice_Site_p.V208_splice	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	319	Ala-rich.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CACGAGTCCCGGTGAGTGTGG	0.652													7	10					0.00198382	0.00210681	1	0	T	11330515	G	T	11330515	5	4	121	1	0	0	0	0	0	0	1	0	3245	1130	39	3	1067	3	CELF2	10	11330515	Splice_Site	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	5399266	11330515	124204232	240	23313											
USP6NL	9712	broad.mit.edu	37	chr10	11523903	11523903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attctacaagttcttccatgGacaatttcattagatgttct	11	17	5	8	0	4	1	1	0	3	1	5	2	5	2	1	1	1	2	1	1	4	7			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:11523903G>A	ENST00000379237.1	-	14	1338	c.944C>T	c.(943-945)tCc>tTc	p.S315F	USP6NL_ENST00000277575.5_Missense_Mutation_p.S332F	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	315						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TTCTTCCATGGACAATTTCAT	0.328													7	6					0	0	0	0	A	11523903	G	A	11523903	3	1	121	1	0	0	0	0	1	0	0	0	17183	1174	41	2	1550	2	USP6NL	10	11523903	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	193388	11523903	124010844	241	23314											
CUBN	8029	broad.mit.edu	37	chr10	17113555	17113555	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccaggatacacgttaggaAaaaaaggcgagcgaatgacc	16	5	11	9	3	0	1	0	1	0	0	1	5	1	3	2	3	2	1	2	3	6	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:17113555A>T	ENST00000377833.4	-	19	2560	c.2495T>A	c.(2494-2496)tTt>tAt	p.F832Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	832	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CACGTTAGGAAAAAAAGGCGA	0.418													30	11					0	0	0	0	T	17113555	A	T	17113555	3	4	121	1	0	0	0	0	1	0	0	0	4083	14	1	5	8572	5	CUBN	10	17113555	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	5589652	17113555	118421192	242	23315											
GAD2	2572	broad.mit.edu	37	chr10	26506860	26506860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaggccgcctgcgcctgcGaccagaagccctgcagctgc	7	4	14	16	3	0	1	0	0	0	1	0	3	0	2	5	2	6	2	5	2	2	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:26506860G>A	ENST00000376261.3	+	3	729	c.226G>A	c.(226-228)Gac>Aac	p.D76N	GAD2_ENST00000259271.3_Missense_Mutation_p.D76N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	76					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTGCGCCTGCGACCAGAAGCC	0.697													13	26					0	0	0	0	A	26506860	G	A	26506860	3	1	121	1	0	0	0	0	1	0	0	0	6228	1058	37	1	236	1	GAD2	10	26506860	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	9393305	26506860	109027887	243	23316											
APBB1IP	54518	broad.mit.edu	37	chr10	26789884	26789884	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacatcattcagcatctctAcaagcatcaattttcagtgg	13	12	5	11	0	5	0	4	0	1	0	6	0	5	0	0	1	4	2	0	1	4	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:26789884A>G	ENST00000376236.4	+	5	752	c.297A>G	c.(295-297)ctA>ctG	p.L99L	APBB1IP_ENST00000356785.4_Silent_p.L99L	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	99					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CAGCATCTCTACAAGCATCAA	0.473													17	56					0	0	0	0	G	26789884	A	G	26789884	2	3	121	1	0	0	0	0	0	0	0	1	761	378	14	5		5	APBB1IP	10	26789884	Silent	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	283024	26789884	108744863	244	23317											
SLC18A3	6572	broad.mit.edu	37	chr10	50819629	50819629	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgccagtgggcactccCatccaccgcctcatgctaga	9	7	8	17	1	1	1	1	0	0	1	3	1	3	1	6	1	3	2	6	1	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:50819629C>A	ENST00000374115.3	+	1	1283	c.843C>A	c.(841-843)ccC>ccA	p.P281P	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	281					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGGGCACTCCCATCCACCGCC	0.647													27	10					2.24059e-21	3.1475e-21	1	0	A	50819629	C	A	50819629	2	1	121	1	0	0	0	0	0	0	0	1	14515	581	21	4		4	SLC18A3	10	50819629	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	24029745	50819629	84715118	245	23318											
AGAP7	653268	broad.mit.edu	37	chr10	51465411	51465411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgaagcatatggagtcacCcagcccggtgtccatgtcct	8	9	11	13	1	1	1	1	1	0	0	3	2	3	2	4	2	2	2	4	2	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:51465411C>G	ENST00000374095.5	-	7	1170	c.1045G>C	c.(1045-1047)Ggt>Cgt	p.G349R		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	349	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						ATGGAGTCACCCAGCCCGGTG	0.547													29	104					0	0	0	0	G	51465411	C	G	51465411	3	3	121	1	0	0	0	0	1	0	0	0	373	623	22	4	950	4	AGAP7	10	51465411	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	645782	51465411	84069336	246	23319											
PCDH15	65217	broad.mit.edu	37	chr10	56138609	56138609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaggatccatcaacaccCagtaatccacattatccttt	14	11	3	13	0	1	0	1	0	0	0	4	1	4	1	4	1	2	1	4	1	4	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:56138609C>A	ENST00000373965.2	-	4	645	c.251G>T	c.(250-252)tGg>tTg	p.W84L	PCDH15_ENST00000395430.1_Missense_Mutation_p.W84L|PCDH15_ENST00000320301.6_Missense_Mutation_p.W84L|PCDH15_ENST00000395432.2_Missense_Mutation_p.W84L|PCDH15_ENST00000373957.3_Missense_Mutation_p.W62L|PCDH15_ENST00000395442.1_Missense_Mutation_p.W84L|PCDH15_ENST00000437009.1_Missense_Mutation_p.W84L|PCDH15_ENST00000361849.3_Missense_Mutation_p.W84L|PCDH15_ENST00000395438.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395446.1_Missense_Mutation_p.W84L|PCDH15_ENST00000373955.1_Missense_Mutation_p.W84L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.W84L|PCDH15_ENST00000414778.1_Missense_Mutation_p.W89L|PCDH15_ENST00000395433.1_Missense_Mutation_p.W62L|PCDH15_ENST00000395445.1_Missense_Mutation_p.W84L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	84	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATCAACACCCAGTAATCCAC	0.423										HNSCC(58;0.16)			47	50					9.82405e-12	1.24798e-11	1	0	A	56138609	C	A	56138609	3	1	121	1	0	0	0	0	1	0	0	0	11582	595	21	4	7380	4	PCDH15	10	56138609	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	4673198	56138609	79396138	247	23320											
ARID5B	84159	broad.mit.edu	37	chr10	63829551	63829551	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtacccgcagacattaTgaaaggtaagaaaccatttc	15	10	7	9	1	0	3	0	1	0	2	1	3	0	3	2	1	2	3	2	1	5	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:63829551T>C	ENST00000279873.7	+	8	1604	c.1194T>C	c.(1192-1194)taT>taC	p.Y398Y	ARID5B_ENST00000309334.5_Silent_p.Y155Y	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	398	ARID.				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GCAGACATTATGAAAGGTAAG	0.418													4	15					0	0	0	0	C	63829551	T	C	63829551	2	2	121	1	0	0	0	0	0	0	0	1	924	1471	51	5		5	ARID5B	10	63829551	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	7690942	63829551	71705196	248	23321											
EGR2	1959	broad.mit.edu	37	chr10	64573804	64573804	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgggtaggccagagaGgaagaggtggaggtggtggc	8	6	24	3	0	0	2	0	0	0	2	0	5	0	4	1	10	0	1	1	10	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:64573804G>A	ENST00000242480.3	-	2	919	c.594C>T	c.(592-594)tcC>tcT	p.S198S	EGR2_ENST00000439032.1_Silent_p.S198S|EGR2_ENST00000411732.1_Silent_p.S148S	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	198					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGGCCAGAGAGGAAGAGGTGG	0.592													62	12					0	0	0	0	A	64573804	G	A	64573804	2	1	121	1	0	0	0	0	0	0	0	1	5008	987	35	4		4	EGR2	10	64573804	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	744253	64573804	70960943	249	23322											
JMJD1C	221037	broad.mit.edu	37	chr10	64973285	64973285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctgggtgaacccacttaGaagaaggcaaaccaagtcct	13	9	9	10	0	1	3	0	1	1	2	2	3	2	3	3	2	2	1	3	2	6	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:64973285G>A	ENST00000399262.2	-	8	2860	c.2642C>T	c.(2641-2643)tCt>tTt	p.S881F	JMJD1C_ENST00000399251.1_Missense_Mutation_p.S662F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S699F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S662F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	881					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AACCCACTTAGAAGAAGGCAA	0.393													30	27					0	0	0	0	A	64973285	G	A	64973285	3	1	121	1	0	0	0	0	1	0	0	0	8003	942	33	2	5056	2	JMJD1C	10	64973285	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	399481	64973285	70561462	250	23323											
SAR1A	56681	broad.mit.edu	37	chr10	71912347	71912347	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctccttcagggtcacattcCcctaaaggaggcaaaaccaa	13	7	8	13	0	2	0	2	0	0	0	4	1	4	1	4	3	1	2	4	3	5	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:71912347C>T	ENST00000373238.1	-	7	839	c.480_splice	c.e7-1	p.G161_splice	SAR1A_ENST00000458634.2_Splice_Site_p.G118_splice|SAR1A_ENST00000373242.1_Splice_Site_p.G161_splice|SAR1A_ENST00000431664.2_Splice_Site_p.G161_splice|SAR1A_ENST00000373241.4_Splice_Site_p.G161_splice			Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)	161					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GGTCACATTCCCCTAAAGGAG	0.483													14	6					0	0	0	0	T	71912347	C	T	71912347	5	4	121	1	0	0	0	0	0	0	1	0	13925	637	22	4	118	4	SAR1A	10	71912347	Splice_Site	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	6939062	71912347	63622400	251	23324											
DUSP13	51207	broad.mit.edu	37	chr10	76868851	76868851	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagctcctccagctccAggatgctggggcaaggcgtg	7	6	16	12	1	0	0	0	0	0	0	3	2	3	2	3	5	3	5	3	5	1	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:76868851A>G	ENST00000372702.3	-	1	128	c.65T>C	c.(64-66)cTg>cCg	p.L22P	DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.L22P			Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	22						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTCCAGCTCCAGGATGCTGGG	0.632													17	13					0	0	0	0	G	76868851	A	G	76868851	3	3	121	1	0	0	0	0	1	0	0	0	4849	188	7	5	1409	5	DUSP13	10	76868851	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	4956504	76868851	58665896	252	23325											
LDB3	11155	broad.mit.edu	37	chr10	88477870	88477870	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaattctttgccccgcTgtgtgccaagtgcaacacca	9	10	9	13	1	1	1	0	1	1	0	1	1	1	1	4	0	5	3	4	0	3	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:88477870T>A	ENST00000429277.2	+	11	1986	c.1841T>A	c.(1840-1842)cTg>cAg	p.L614Q	LDB3_ENST00000361373.4_Missense_Mutation_p.L609Q|LDB3_ENST00000458213.2_Missense_Mutation_p.L499Q|LDB3_ENST00000263066.6_Missense_Mutation_p.L499Q|LDB3_ENST00000352360.5_Missense_Mutation_p.L352Q	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	609	LIM zinc-binding 2.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TTTGCCCCGCTGTGTGCCAAG	0.522													81	16					0	0	0	0	A	88477870	T	A	88477870	3	1	121	1	0	0	0	0	1	0	0	0	8750	1580	55	5	2200	5	LDB3	10	88477870	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	11609019	88477870	47056877	253	23326											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362864	105362864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaagaggaggaggaggaaGaggaggagcagcaagtggtg	15	2	22	2	0	0	2	0	0	0	2	0	9	0	9	0	8	2	2	0	8	3	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:105362864G>C	ENST00000369774.4	-	15	2387	c.2111C>G	c.(2110-2112)tCt>tGt	p.S704C	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S571C|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S676C|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S539C			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	704	Ser-rich.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ggaggaggaagaggaggagCA	0.577													25	100					0	0	0	0	C	105362864	G	C	105362864	3	2	121	1	0	0	0	0	1	0	0	0	14344	942	33	2	1294	2	SH3PXD2A	10	105362864	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	16884994	105362864	30171883	254	23327											
SMC3	9126	broad.mit.edu	37	chr10	112361903	112361903	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgaatgtacttgaacttcgGaaatatgaagctattcagtt	14	14	8	5	1	1	3	1	3	0	0	2	4	1	4	0	1	3	3	0	1	7	7			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:112361903G>T	ENST00000361804.4	+	25	3198	c.3072G>T	c.(3070-3072)cgG>cgT	p.R1024R		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1024					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTGAACTTCGGAAATATGAAG	0.348													48	16					2.55665e-31	3.7194e-31	1	0	T	112361903	G	T	112361903	2	4	121	1	0	0	0	0	0	0	0	1	14872	1161	41	2		2	SMC3	10	112361903	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	6999039	112361903	23172844	255	23328											
TACC2	10579	broad.mit.edu	37	chr10	123842196	123842196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttggaggcttctgcaccGcttctgagagttctgccagc	5	11	13	12	1	3	1	0	1	3	1	3	3	3	2	2	3	3	5	2	3	0	4	rs115572080		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:123842196G>T	ENST00000369005.1	+	4	521	c.181G>T	c.(181-183)Gct>Tct	p.A61S	TACC2_ENST00000453444.2_Missense_Mutation_p.A61S|TACC2_ENST00000334433.3_Missense_Mutation_p.A61S|TACC2_ENST00000515603.1_Missense_Mutation_p.A61S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A61S|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	61						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.A61T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCTGCACCGCTTCTGAGAG	0.542													34	39					1.22384e-17	1.64938e-17	1	0	T	123842196	G	T	123842196	3	4	121	1	0	0	0	0	1	0	0	0	15593	1087	38	3	191	3	TACC2	10	123842196	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	11480293	123842196	11692551	256	23329											
DMBT1	1755	broad.mit.edu	37	chr10	124395562	124395562	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcgatggcccctaccgcAgttcccctctcattgctcga	5	13	7	16	3	1	0	1	0	1	0	5	2	2	0	5	1	2	3	5	1	1	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:124395562A>T	ENST00000338354.3	+	50	6323	c.6217A>T	c.(6217-6219)Agt>Tgt	p.S2073C	DMBT1_ENST00000330163.4_Missense_Mutation_p.S1445C|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2063C|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1445C|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2063C|DMBT1_ENST00000359586.6_Missense_Mutation_p.S793C|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2073C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2073	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCCTACCGCAGTTCCCCTCT	0.498													24	10					0	0	0	0	T	124395562	A	T	124395562	3	4	121	1	0	0	0	0	1	0	0	0	4614	188	7	5	6415	5	DMBT1	10	124395562	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	553366	124395562	11139185	257	23330											
PDDC1	347862	broad.mit.edu	37	chr11	773589	773589	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggccaggtcggtcagggcCccaggacagctggggatcag	7	5	17	12	1	2	0	2	0	0	0	3	2	2	2	3	7	1	1	3	7	0	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:773589C>A	ENST00000319863.8	-	4	309	c.288G>T	c.(286-288)ggG>ggT	p.G96G	PDDC1_ENST00000442059.2_Silent_p.G46G|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000526325.1_Silent_p.G96G|PDDC1_ENST00000524550.1_Intron|PDDC1_ENST00000397472.2_Silent_p.G96G	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	96						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGTCAGGGCCCCAGGACAGC	0.642													8	18					0.000274275	0.000299056	1	0	A	773589	C	A	773589	2	1	121	1	0	0	0	0	0	0	0	1	11700	610	22	4		4	PDDC1	11	773589	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08		773589	134232927	258	23331											
MUC5B	727897	broad.mit.edu	37	chr11	1272821	1272821	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccaccgtggggaccacccGcacccctgcagtgctcccca	6	5	10	20	2	0	0	0	0	0	0	2	1	2	1	8	2	2	3	8	2	0	0	rs56353324		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:1272821G>C	ENST00000447027.1	+	31	14778	c.14720G>C	c.(14719-14721)cGc>cCc	p.R4907P	MUC5B_ENST00000529681.1_Missense_Mutation_p.R4904P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4904	Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACCACCCGCACCCCTGCA	0.652													12	20					0	0	0	0	C	1272821	G	C	1272821	3	2	121	1	0	0	0	0	1	0	0	0	10049	1087	38	3	14842	3	MUC5B	11	1272821	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	499232	1272821	133733695	259	23332											
OR52I2	143502	broad.mit.edu	37	chr11	4608601	4608601	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagagctatcatagccataActccactgagttggatggtg	11	11	10	9	0	2	2	2	1	0	1	3	3	3	3	2	2	3	2	2	2	3	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:4608601A>T	ENST00000312614.4	+	1	581	c.559A>T	c.(559-561)Act>Tct	p.T187S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATAGCCATAACTCCACTGAG	0.488													31	41					0	0	0	0	T	4608601	A	T	4608601	3	4	121	1	0	0	0	0	1	0	0	0	11192	43	2	5	561	5	OR52I2	11	4608601	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	3335780	4608601	130397915	260	23333											
HBD	3045	broad.mit.edu	37	chr11	5254322	5254322	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagcacattgcccaagaGctgcggagaagaggtaggca	13	4	13	11	1	0	3	0	0	0	3	0	4	0	3	2	3	4	4	2	3	3	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:5254322G>A	ENST00000380299.3	-	3	530	c.315_splice	c.e3-1	p.L106_splice	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	106					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGCCCAAGAGCTGCGGAGAA	0.502													12	30					0	0	0	0	A	5254322	G	A	5254322	5	1	121	1	0	0	0	0	0	0	1	0	7029	985	34	4	131	4	HBD	11	5254322	Splice_Site	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	645721	5254322	129752194	261	23334											
OR52N1	79473	broad.mit.edu	37	chr11	5809393	5809393	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagaatcatagtgtaggaGattgtaatgcacaggatatc	15	11	11	4	0	1	3	1	1	0	2	2	5	1	4	0	2	1	3	0	2	6	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:5809393G>A	ENST00000317078.1	-	1	653	c.654C>T	c.(652-654)atC>atT	p.I218I	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TAGTGTAGGAGATTGTAATGC	0.478													18	28					0	0	0	0	A	5809393	G	A	5809393	2	1	121	1	0	0	0	0	0	0	0	1	11198	932	33	2		2	OR52N1	11	5809393	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	555071	5809393	129197123	262	23335											
OR56A4	120793	broad.mit.edu	37	chr11	6023446	6023446	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttagtgatgaccagaacCagcaggactgtgctgaagaa	14	7	13	7	0	0	5	0	3	0	2	0	6	0	6	2	2	3	3	2	2	4	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:6023446C>A	ENST00000330728.4	-	1	978	c.933G>T	c.(931-933)ctG>ctT	p.L311L		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACCAGAACCAGCAGGACTG	0.552													5	15					0.014758	0.0153959	1	0	A	6023446	C	A	6023446	2	1	121	1	0	0	0	0	0	0	0	1	11206	581	21	4		4	OR56A4	11	6023446	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	214053	6023446	128983070	263	23336											
FAM160A2	84067	broad.mit.edu	37	chr11	6244316	6244316	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttcagtcctacctgaatTactgcattgcagaactccag	11	12	6	12	0	1	2	1	1	0	1	3	2	3	2	3	0	5	2	3	0	4	4	rs145608756		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:6244316T>A	ENST00000265978.4	-	4	1288	c.930A>T	c.(928-930)gtA>gtT	p.V310V	FAM160A2_ENST00000449352.2_Silent_p.V310V|FAM160A2_ENST00000524416.1_Silent_p.V310V	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	310					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTACCTGAATTACTGCATTGC	0.507													50	101					0	0	0	0	A	6244316	T	A	6244316	2	1	121	1	0	0	0	0	0	0	0	1	5510	1741	61	5		5	FAM160A2	11	6244316	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	220870	6244316	128762200	264	23337											
CALCA	796	broad.mit.edu	37	chr11	14990424	14990424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatatcccttttctttccaGgtgctccaaccccaattgca	9	13	4	15	0	1	0	0	0	1	0	4	0	4	0	5	1	3	2	5	1	3	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:14990424G>T	ENST00000331587.4	-	4	465	c.347C>A	c.(346-348)cCt>cAt	p.P116H	CALCA_ENST00000396372.2_Missense_Mutation_p.P116H|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000359642.3_Missense_Mutation_p.P116H|CALCA_ENST00000361010.3_Intron|CALCA_ENST00000486207.1_Intron	NM_001741.2	NP_001732.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	119					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	TTTCTTTCCAGGTGCTCCAAC	0.507													30	54					3.11337e-16	4.14336e-16	1	0	T	14990424	G	T	14990424	3	4	121	1	0	0	0	0	1	0	0	0	2600	1000	35	4	246	4	CALCA	11	14990424	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	8746108	14990424	120016092	265	23338											
NAV2	89797	broad.mit.edu	37	chr11	19914117	19914117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtcacctccccaccccCaccgccaagcagccacgaga	11	2	6	22	2	1	1	1	0	0	1	2	2	2	1	9	0	2	1	9	0	1	0	rs145926987		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:19914117C>T	ENST00000396085.1	+	6	1269	c.908C>T	c.(907-909)cCa>cTa	p.P303L	NAV2_ENST00000540292.1_Missense_Mutation_p.P257L|NAV2_ENST00000396087.3_Missense_Mutation_p.P326L|NAV2_ENST00000349880.4_Missense_Mutation_p.P303L|NAV2_ENST00000527559.2_Missense_Mutation_p.P255L|NAV2_ENST00000360655.4_Missense_Mutation_p.P239L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	326						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCCACCCCCACCGCCAAGC	0.517													12	24					0	0	0	0	T	19914117	C	T	19914117	3	4	121	1	0	0	0	0	1	0	0	0	10254	594	21	4	1009	4	NAV2	11	19914117	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	4923693	19914117	115092399	266	23339											
RAG2	5897	broad.mit.edu	37	chr11	36615385	36615385	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgttgttcttgcaaacaaTagacatgacataaatcttat	14	16	5	6	0	2	2	0	1	2	1	2	2	2	2	0	0	2	3	0	0	6	7			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:36615385T>C	ENST00000311485.3	-	2	495	c.334A>G	c.(334-336)Att>Gtt	p.I112V		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	112					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTGCAAACAATAGACATGACA	0.393									Familial Hemophagocytic Lymphohistiocytosis				25	57					0	0	0	0	C	36615385	T	C	36615385	3	2	121	1	0	0	0	0	1	0	0	0	13087	1406	49	5	1253	5	RAG2	11	36615385	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	16701268	36615385	98391131	267	23340											
OR4X2	119764	broad.mit.edu	37	chr11	48266803	48266803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcagaagccttggttccCccatgtacttcttcctcagc	7	11	7	16	0	2	1	1	0	1	1	4	1	4	1	5	1	4	3	5	1	2	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:48266803C>A	ENST00000302329.3	+	1	196	c.148C>A	c.(148-150)Ccc>Acc	p.P50T		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P50T(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CCTTGGTTCCCCCATGTACTT	0.488													20	52					4.63292e-17	6.21233e-17	1	0	A	48266803	C	A	48266803	3	1	121	1	0	0	0	0	1	0	0	0	11156	623	22	4	150	4	OR4X2	11	48266803	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	11651418	48266803	86739713	268	23341											
OR4C3	256144	broad.mit.edu	37	chr11	48347268	48347268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagtgcagatgggagatGcaaagccctctccacctgtg	10	7	11	13	0	1	2	0	0	1	2	2	3	1	2	4	1	3	2	4	1	1	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:48347268G>T	ENST00000319856.4	+	1	797	c.776G>T	c.(775-777)tGc>tTc	p.C259F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GATGGGAGATGCAAAGCCCTC	0.468													13	49					1.61879e-10	2.02731e-10	1	0	T	48347268	G	T	48347268	3	4	121	1	0	0	0	0	1	0	0	0	11121	1319	46	4	778	4	OR4C3	11	48347268	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	80465	48347268	86659248	269	23342											
OR4C13	283092	broad.mit.edu	37	chr11	49974682	49974682	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaggcacgaagccctctcTacctgtgtctcccacatcac	9	8	7	17	1	3	0	1	0	2	0	5	1	3	0	3	1	2	2	3	1	3	1	rs145221317		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:49974682T>A	ENST00000555099.1	+	1	740	c.708T>A	c.(706-708)tcT>tcA	p.S236S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AAGCCCTCTCTACCTGTGTCT	0.463													46	63					0	0	0	0	A	49974682	T	A	49974682	2	1	121	1	0	0	0	0	0	0	0	1	11118	1509	53	5		5	OR4C13	11	49974682	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	1627414	49974682	85031834	270	23343											
OR4C12	283093	broad.mit.edu	37	chr11	50003881	50003881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtacatgggggagctcaGagcctggctggtggtaatgg	9	8	18	6	0	1	1	1	0	0	1	1	3	1	2	1	6	3	4	1	6	3	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:50003881G>T	ENST00000335238.4	-	1	190	c.157C>A	c.(157-159)Ctg>Atg	p.L53M		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGGGAGCTCAGAGCCTGGCTG	0.418													11	27					3.07112e-06	3.46971e-06	1	0	T	50003881	G	T	50003881	3	4	121	1	0	0	0	0	1	0	0	0	11117	933	33	2	776	2	OR4C12	11	50003881	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	29199	50003881	85002635	271	23344											
OR5F1	338674	broad.mit.edu	37	chr11	55761628	55761628	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctgacatggcttgtgttGaccatgaagttcagcaaccc	9	11	10	11	0	1	3	1	3	0	0	1	3	1	3	2	1	3	5	2	1	2	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:55761628G>C	ENST00000278409.1	-	1	473	c.474C>G	c.(472-474)gtC>gtG	p.V158V		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGCTTGTGTTGACCATGAAGT	0.498													22	37					0	0	0	0	C	55761628	G	C	55761628	2	2	121	1	0	0	0	0	0	0	0	1	11229	1277	45	2		2	OR5F1	11	55761628	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	5757747	55761628	79244888	272	23345											
OR8H2	390151	broad.mit.edu	37	chr11	55872885	55872885	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcaatggcccatgatcgcTatgcagcgatctgcagtcct	8	10	9	14	2	2	1	1	1	1	0	4	2	3	1	3	1	3	3	3	1	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:55872885T>C	ENST00000313503.1	+	1	367	c.367T>C	c.(367-369)Tat>Cat	p.Y123H		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CCATGATCGCTATGCAGCGAT	0.463										HNSCC(53;0.14)			52	118					0	0	0	0	C	55872885	T	C	55872885	3	2	121	1	0	0	0	0	1	0	0	0	11309	1522	53	5	369	5	OR8H2	11	55872885	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	111257	55872885	79133631	273	23346											
OR5J2	282775	broad.mit.edu	37	chr11	55944359	55944359	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgaacctcctggttgtgaAggcaacaatttctttctctg	8	14	10	9	0	2	2	0	2	2	0	4	2	3	2	2	3	2	2	2	3	4	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:55944359A>T	ENST00000312298.1	+	1	266	c.266A>T	c.(265-267)aAg>aTg	p.K89M		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTGGTTGTGAAGGCAACAATT	0.458													38	58					0	0	0	0	T	55944359	A	T	55944359	3	4	121	1	0	0	0	0	1	0	0	0	11236	72	3	5	268	5	OR5J2	11	55944359	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	71474	55944359	79062157	274	23347											
TMX2	51075	broad.mit.edu	37	chr11	57480109	57480109	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatggcggtcttggcacctCtaattgctctcgtgtattcg	6	14	11	10	3	3	1	0	0	3	1	5	1	3	1	1	3	1	3	1	3	2	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:57480109C>T	ENST00000278422.4	+	1	31	c.19C>T	c.(19-21)Cta>Tta	p.L7L	TMX2_ENST00000378312.4_Silent_p.L7L|TMX2-CTNND1_ENST00000528395.1_Silent_p.L7L	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	7					cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						CTTGGCACCTCTAATTGCTCT	0.602													6	8					0	0	0	0	T	57480109	C	T	57480109	2	4	121	1	0	0	0	0	0	0	0	1	16361	912	32	2		2	TMX2	11	57480109	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	1535750	57480109	77526407	275	23348											
CDC42BPG	55561	broad.mit.edu	37	chr11	64603708	64603708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcagctcctcctgctgccCctgggccctgcagagctcct	5	8	10	18	0	0	1	0	0	0	1	3	1	3	1	6	1	6	5	6	1	1	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:64603708C>T	ENST00000342711.5	-	13	1548	c.1549G>A	c.(1549-1551)Ggg>Agg	p.G517R		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	517					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TCCTGCTGCCCCTGGGCCCTG	0.701											OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	9					0	0	0	0	T	64603708	C	T	64603708	3	4	121	1	0	0	0	0	1	0	0	0	3103	623	22	4	3206	4	CDC42BPG	11	64603708	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	7123599	64603708	70402808	276	23349											
FGF3	2248	broad.mit.edu	37	chr11	69625383	69625383	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccccaggcgtactagacAccgtccggtacagccgggag	8	4	15	14	4	0	1	0	0	0	1	1	2	1	2	5	4	3	2	5	4	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:69625383A>T	ENST00000334134.2	-	3	500	c.410T>A	c.(409-411)gTg>gAg	p.V137E		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	137					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CGTACTAGACACCGTCCGGTA	0.657													23	31					0	0	0	0	T	69625383	A	T	69625383	3	4	121	1	0	0	0	0	1	0	0	0	5898	159	6	5	313	5	FGF3	11	69625383	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	5021675	69625383	65381133	277	23350											
ANO1	55107	broad.mit.edu	37	chr11	69949232	69949232	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggaacgtgctgtgcagaGaggccgagtttctgaaactg	9	9	14	9	2	1	2	0	1	1	1	1	5	1	3	2	2	4	3	2	2	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:69949232G>C	ENST00000355303.5	+	3	807	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	ANO1_ENST00000398543.2_Missense_Mutation_p.E52Q|ANO1_ENST00000316296.5_Missense_Mutation_p.E140Q|ANO1_ENST00000530676.1_Missense_Mutation_p.E52Q|ANO1_ENST00000538023.1_Missense_Mutation_p.E168Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	168					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GCTGTGCAGAGAGGCCGAGTT	0.537													10	9					0	0	0	0	C	69949232	G	C	69949232	3	2	121	1	0	0	0	0	1	0	0	0	694	943	33	2	512	2	ANO1	11	69949232	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	323849	69949232	65057284	278	23351											
UVRAG	7405	broad.mit.edu	37	chr11	75851967	75851967	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaccaccgtcccctccaTgggagagaccgagagaaaga	12	5	12	12	2	0	4	0	1	0	3	2	8	2	5	6	1	0	0	6	1	1	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:75851967T>A	ENST00000356136.3	+	15	1851	c.1610T>A	c.(1609-1611)aTg>aAg	p.M537K	UVRAG_ENST00000533454.1_Missense_Mutation_p.M165K|UVRAG_ENST00000528420.1_Missense_Mutation_p.M436K|UVRAG_ENST00000539288.1_Missense_Mutation_p.M165K|UVRAG_ENST00000538870.1_Missense_Mutation_p.M93K|UVRAG_ENST00000531818.1_Missense_Mutation_p.M165K|UVRAG_ENST00000532130.1_Missense_Mutation_p.M165K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	537					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GTCCCCTCCATGGGAGAGACC	0.498													16	23					0	0	0	0	A	75851967	T	A	75851967	3	1	121	1	0	0	0	0	1	0	0	0	17204	1464	51	5	1668	5	UVRAG	11	75851967	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	5902735	75851967	59154549	279	23352											
DLG2	1740	broad.mit.edu	37	chr11	83173017	83173017	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacaatttatcccctttctCacactaccagggtaaaagtg	13	11	6	11	0	1	1	1	0	1	1	3	1	2	1	3	1	1	1	3	1	5	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:83173017C>G	ENST00000531015.1	-	21	2459	c.2435G>C	c.(2434-2436)tGa>tCa	p.*812S	DLG2_ENST00000532653.1_Intron|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000524982.1_Intron			Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCCCCTTTCTCACACTACCAG	0.413													10	33					0	0	0	0	G	83173017	C	G	83173017	4	3	121	1	0	0	0	0	0	0	0	0	4592	841	29	2		2	DLG2	11	83173017	Nonstop_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	7321050	83173017	51833499	280	23353											
SYTL2	54843	broad.mit.edu	37	chr11	85409099	85409099	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacccagatgtgcacttcTccagttgtaggaagcttttt	8	15	8	10	0	2	1	1	0	1	1	3	2	2	2	2	1	2	4	2	1	2	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:85409099T>C	ENST00000359152.5	-	10	4913	c.4914A>G	c.(4912-4914)ggA>ggG	p.G1638G	SYTL2_ENST00000524452.1_Silent_p.G768G|SYTL2_ENST00000389960.4_Silent_p.G768G|SYTL2_ENST00000525423.1_Silent_p.G1114G|SYTL2_ENST00000525702.1_Silent_p.G234G|SYTL2_ENST00000533892.1_Silent_p.G194G|SYTL2_ENST00000528231.1_Silent_p.G792G|SYTL2_ENST00000527523.1_Silent_p.G760G|SYTL2_ENST00000354566.3_Silent_p.G1130G|SYTL2_ENST00000316356.4_Silent_p.G793G|SYTL2_ENST00000529581.1_Silent_p.G234G|SYTL2_ENST00000389958.3_Silent_p.G223G	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	792					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGTGCACTTCTCCAGTTGTAG	0.398													23	41					0	0	0	0	C	85409099	T	C	85409099	2	2	121	1	0	0	0	0	0	0	0	1	15574	1538	54	5		5	SYTL2	11	85409099	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	2236082	85409099	49597417	281	23354											
GRM5	2915	broad.mit.edu	37	chr11	88323788	88323788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgtgagatcatcagtgggCcaagaccccagttggcatgc	9	8	12	12	0	2	2	2	1	0	2	2	3	2	2	4	2	1	2	4	2	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:88323788C>A	ENST00000418177.2	-	7	2038	c.1671G>T	c.(1669-1671)tgG>tgT	p.W557C	GRM5_ENST00000305447.4_Missense_Mutation_p.W557C|GRM5_ENST00000393297.1_Missense_Mutation_p.W557C|GRM5_ENST00000305432.5_Missense_Mutation_p.W557C|GRM5_ENST00000455756.2_Missense_Mutation_p.W557C			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	557					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CATCAGTGGGCCAAGACCCCA	0.473													16	33					4.7546e-09	5.76414e-09	1	0	A	88323788	C	A	88323788	3	1	121	1	0	0	0	0	1	0	0	0	6850	740	26	4	1983	4	GRM5	11	88323788	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	2914689	88323788	46682728	282	23355											
EXPH5	23086	broad.mit.edu	37	chr11	108380698	108380698	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagatctgaatcttcgacTgtacccattgttgacagaga	14	11	8	8	1	2	4	0	2	2	2	3	6	2	4	1	0	1	2	1	0	4	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:108380698T>A	ENST00000265843.4	-	6	5646	c.5536A>T	c.(5536-5538)Agt>Tgt	p.S1846C	EXPH5_ENST00000525344.1_Missense_Mutation_p.S1839C|EXPH5_ENST00000443411.1_Missense_Mutation_p.S1658C|EXPH5_ENST00000428840.1_Missense_Mutation_p.S1770C	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1846					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AATCTTCGACTGTACCCATTG	0.463													14	29					0	0	0	0	A	108380698	T	A	108380698	3	1	121	1	0	0	0	0	1	0	0	0	5360	1580	55	5	437	5	EXPH5	11	108380698	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	20056910	108380698	26625818	283	23356											
RDX	5962	broad.mit.edu	37	chr11	110104001	110104001	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctcatttttctgtgtttcGgttacacgttcttcctcgct	3	19	7	12	4	3	0	1	0	2	0	6	0	4	0	1	1	1	5	1	1	1	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:110104001G>C	ENST00000343115.4	-	13	1867	c.1548C>G	c.(1546-1548)acC>acG	p.T516T	RDX_ENST00000528498.1_Silent_p.T516T|RDX_ENST00000528900.1_Silent_p.T169T|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Silent_p.T516T|RDX_ENST00000544551.1_Silent_p.T380T	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	516	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	p.T516T(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TCTGTGTTTCGGTTACACGTT	0.363													59	91					0	0	0	0	C	110104001	G	C	110104001	2	2	121	1	0	0	0	0	0	0	0	1	13280	1103	39	3		3	RDX	11	110104001	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1723303	110104001	24902515	284	23357											
TTC12	54970	broad.mit.edu	37	chr11	113222881	113222881	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcccactacccgaagAcacatggcggcctgtgagga	10	5	13	13	2	0	3	0	2	0	1	0	5	0	4	3	3	2	1	3	3	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:113222881A>T	ENST00000393020.1	+	16	1803	c.1398A>T	c.(1396-1398)agA>agT	p.R466S	TTC12_ENST00000483239.2_Missense_Mutation_p.R472S|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000529221.1_Missense_Mutation_p.R466S|TTC12_ENST00000314756.3_Missense_Mutation_p.R466S			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	466							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CTACCCGAAGACACATGGCGG	0.498													24	31					0	0	0	0	T	113222881	A	T	113222881	3	4	121	1	0	0	0	0	1	0	0	0	16775	272	10	5	1456	5	TTC12	11	113222881	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	3118880	113222881	21783635	285	23358											
DRD2	1813	broad.mit.edu	37	chr11	113295255	113295255	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgatgagcagggtgagcAgtgtggcatagtagttgtag	10	9	17	5	1	0	2	0	2	0	0	0	3	0	2	0	2	3	6	0	2	3	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:113295255A>T	ENST00000362072.3	-	2	463	c.119T>A	c.(118-120)cTg>cAg	p.L40Q	DRD2_ENST00000355319.2_Missense_Mutation_p.L40Q|DRD2_ENST00000346454.3_Missense_Mutation_p.L40Q|DRD2_ENST00000544518.1_Missense_Mutation_p.L40Q|DRD2_ENST00000542968.1_Missense_Mutation_p.L40Q|DRD2_ENST00000538967.1_Missense_Mutation_p.L40Q	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	40				L -> R (in Ref. 7; AAB26819).	activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CAGGGTGAGCAGTGTGGCATA	0.587													23	53					0	0	0	0	T	113295255	A	T	113295255	3	4	121	1	0	0	0	0	1	0	0	0	4793	188	7	5	1240	5	DRD2	11	113295255	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	72374	113295255	21711261	286	23359											
HTR3A	3359	broad.mit.edu	37	chr11	113860189	113860189	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcccttcttccagccAtgggaaaccactgcagccac	8	7	8	18	0	1	0	0	0	1	0	2	1	2	1	6	1	5	1	6	1	1	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:113860189A>T	ENST00000504030.2	+	9	1586	c.1141A>T	c.(1141-1143)Atg>Ttg	p.M381L	HTR3A_ENST00000375498.2_Missense_Mutation_p.M387L|HTR3A_ENST00000535865.1_Missense_Mutation_p.M125L|HTR3A_ENST00000299961.5_Missense_Mutation_p.M366L|HTR3A_ENST00000506841.2_Missense_Mutation_p.M413L|HTR3A_ENST00000355556.2_Missense_Mutation_p.M419L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	381					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCTTCCAGCCATGGGAAACCA	0.587													34	73					0	0	0	0	T	113860189	A	T	113860189	3	4	121	1	0	0	0	0	1	0	0	0	7497	217	8	5	1311	5	HTR3A	11	113860189	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	564934	113860189	21146327	287	23360											
APOA4	337	broad.mit.edu	37	chr11	116692027	116692027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctggccttgagctcctcGgcgttcttcttcatctggaa	5	14	9	13	2	4	1	1	1	3	0	7	2	6	2	3	3	1	2	3	3	1	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:116692027G>A	ENST00000357780.3	-	3	861	c.747C>T	c.(745-747)gcC>gcT	p.A249A		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TGAGCTCCTCGGCGTTCTTCT	0.657													28	40					0	0	0	0	A	116692027	G	A	116692027	2	1	121	1	0	0	0	0	0	0	0	1	785	1103	39	1		1	APOA4	11	116692027	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2831838	116692027	18314489	288	23361											
BSX	390259	broad.mit.edu	37	chr11	122848358	122848358	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccccagcctggcggctCagagcacgtgcggccctgag	5	5	13	18	3	1	2	1	1	0	1	2	2	2	2	5	3	3	2	5	3	0	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:122848358C>A	ENST00000343035.2	-	3	749	c.701G>T	c.(700-702)tGa>tTa	p.*234L		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	0										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CCTGGCGGCTCAGAGCACGTG	0.701													12	29					4.3838e-07	5.07146e-07	1	0	A	122848358	C	A	122848358	4	1	121	1	0	0	0	0	0	0	0	0	1543	840	29	2	3	2	BSX	11	122848358	Nonstop_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	6156331	122848358	12158158	289	23362											
OR8D4	338662	broad.mit.edu	37	chr11	123777182	123777182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgactgagtttcttctttCaggattaactgaacaagcag	12	13	9	7	0	3	3	1	3	2	0	3	4	3	4	0	1	3	2	0	1	3	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:123777182C>T	ENST00000321355.2	+	1	74	c.44C>T	c.(43-45)tCa>tTa	p.S15L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TTTCTTCTTTCAGGATTAACT	0.408													33	26					0	0	0	0	T	123777182	C	T	123777182	3	4	121	1	0	0	0	0	1	0	0	0	11304	838	29	2	46	2	OR8D4	11	123777182	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	928824	123777182	11229334	290	23363											
NCAPD3	23310	broad.mit.edu	37	chr11	134062790	134062790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggctttctggatctgcacGcatctaggctgagccttagg	7	11	12	11	1	3	1	0	1	3	0	3	2	3	2	1	4	2	4	1	4	2	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:134062790G>A	ENST00000534548.2	-	16	1903	c.1839C>T	c.(1837-1839)tgC>tgT	p.C613C		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	613					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GGATCTGCACGCATCTAGGCT	0.502													28	37					0	0	0	0	A	134062790	G	A	134062790	2	1	121	1	0	0	0	0	0	0	0	1	10276	1079	38	1		1	NCAPD3	11	134062790	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	10285608	134062790	943726	291	23364											
CLEC4D	338339	broad.mit.edu	37	chr12	8670768	8670768	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccttgacagtgactcatCacaacttttcacgctgtaag	11	13	6	11	1	3	2	3	2	0	0	4	2	4	2	1	0	1	2	1	0	3	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:8670768C>A	ENST00000299665.2	+	3	323	c.130C>A	c.(130-132)Cac>Aac	p.H44N		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	44					innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AGTGACTCATCACAACTTTTC	0.393													9	7					6.40141e-05	7.05218e-05	1	0	A	8670768	C	A	8670768	3	1	121	1	0	0	0	0	1	0	0	0	3544	826	29	2	140	2	CLEC4D	12	8670768	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08		8670768	125181127	292	23365											
PRB1	5542	broad.mit.edu	37	chr12	11506728	11506728	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttggggctggttacctccTtgtgggggtggtccttgtgg	1	14	17	9	0	0	0	0	0	0	0	2	0	2	0	4	7	1	2	4	7	1	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:11506728T>A	ENST00000500254.2	-	3	346	c.309A>T	c.(307-309)caA>caT	p.Q103H	PRB1_ENST00000545626.1_Missense_Mutation_p.Q103H|PRB1_ENST00000546254.1_Missense_Mutation_p.Q103H	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	286	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTTACCTCCTTGTGGGGGTG	0.622													45	726					0	0	0	0	A	11506728	T	A	11506728	3	1	121	1	0	0	0	0	1	0	0	0	12522	1606	56	5	690	5	PRB1	12	11506728	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	2835960	11506728	122345167	293	23366											
PRB2	653247	broad.mit.edu	37	chr12	11546454	11546454	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttggggctggttgcctccTtgtgggggtggtccttgtgg	0	14	18	9	0	0	0	0	0	0	0	2	0	2	0	4	7	1	2	4	7	0	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:11546454T>A	ENST00000389362.4	-	3	593	c.558A>T	c.(556-558)caA>caT	p.Q186H	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTTGCCTCCTTGTGGGGGTG	0.607													6	365					0	0	0	0	A	11546454	T	A	11546454	3	1	121	1	0	0	0	0	1	0	0	0	12523	1606	56	5	696	5	PRB2	12	11546454	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	39726	11546454	122305441	294	23367											
ATF7IP	55729	broad.mit.edu	37	chr12	14650641	14650641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagctccacaaccacaGcgtctgcccccagaagctgc	11	4	8	18	1	1	2	0	0	1	2	2	2	2	2	5	0	6	2	5	0	3	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:14650641G>A	ENST00000544627.1	+	15	3791	c.3471G>A	c.(3469-3471)caG>caA	p.Q1157Q	ATF7IP_ENST00000536444.1_Silent_p.Q1148Q|ATF7IP_ENST00000261168.4_Silent_p.Q1149Q|ATF7IP_ENST00000540793.1_Silent_p.Q1149Q			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1149	Fibronectin type-III.|Interaction with MBD1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CACAACCACAGCGTCTGCCCC	0.522													13	31					0	0	0	0	A	14650641	G	A	14650641	2	1	121	1	0	0	0	0	0	0	0	1	1091	962	34	4		4	ATF7IP	12	14650641	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	3104187	14650641	119201254	295	23368											
CAPZA3	93661	broad.mit.edu	37	chr12	18891436	18891436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctcaccacaatgtaatGggcgactaccgattttttga	10	14	8	9	2	1	1	1	1	1	0	2	3	1	1	2	1	1	1	2	1	3	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:18891436G>T	ENST00000317658.3	+	1	392	c.234G>T	c.(232-234)atG>atT	p.M78I		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	78					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACAATGTAATGGGCGACTACC	0.423													22	37					1.28384e-07	1.50158e-07	1	0	T	18891436	G	T	18891436	3	4	121	1	0	0	0	0	1	0	0	0	2667	1348	47	4	236	4	CAPZA3	12	18891436	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	4240795	18891436	114960459	296	23369											
ITPR2	3709	broad.mit.edu	37	chr12	26492364	26492364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgattcacatggggtGtgtttgatccgaggaagccc	8	12	14	7	1	1	3	1	3	0	0	2	5	2	4	2	3	1	1	2	3	1	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:26492364G>A	ENST00000381340.3	-	57	8488	c.8072C>T	c.(8071-8073)aCa>aTa	p.T2691I	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2691					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CACATGGGGTGTGTTTGATCC	0.483													12	17					0	0	0	0	A	26492364	G	A	26492364	3	1	121	1	0	0	0	0	1	0	0	0	7974	1377	48	4	37	4	ITPR2	12	26492364	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	7600928	26492364	107359531	297	23370											
CAPRIN2	65981	broad.mit.edu	37	chr12	30881705	30881705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttaaagagtgtttttgactCtcaacattgttttcccagga	10	16	8	7	0	1	2	1	1	1	1	3	3	2	3	1	1	1	3	1	1	3	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:30881705C>G	ENST00000251071.5	-	8	2409	c.1659G>C	c.(1657-1659)gaG>gaC	p.E553D	CAPRIN2_ENST00000395805.2_Missense_Mutation_p.E553D|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E220D|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E553D|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E553D|CAPRIN2_ENST00000538387.1_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	553					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTTTTTGACTCTCAACATTGT	0.468													6	110					0	0	0	0	G	30881705	C	G	30881705	3	3	121	1	0	0	0	0	1	0	0	0	2661	912	32	2	1768	2	CAPRIN2	12	30881705	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	4389341	30881705	102970190	298	23371											
PPHLN1	51535	broad.mit.edu	37	chr12	42745757	42745757	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacagacctggtgaaggaaGctacaatagatattacagtc	16	8	10	7	0	0	4	0	1	0	3	1	5	0	5	1	2	3	1	1	2	7	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:42745757G>C	ENST00000395568.2	+	3	227	c.143G>C	c.(142-144)aGc>aCc	p.S48T	PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000549190.1_Missense_Mutation_p.S66T|PPHLN1_ENST00000449194.2_Missense_Mutation_p.S48T|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000358314.7_Missense_Mutation_p.S48T|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S55T|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000550535.1_3'UTR	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	48					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GGTGAAGGAAGCTACAATAGA	0.403													20	18					0	0	0	0	C	42745757	G	C	42745757	3	2	121	1	0	0	0	0	1	0	0	0	12386	971	34	4	174	4	PPHLN1	12	42745757	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	11864052	42745757	91106138	299	23372											
PRICKLE1	144165	broad.mit.edu	37	chr12	42853645	42853645	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttttgcccttgtgtcccTttttcttcttggattttgtt	3	24	6	8	0	2	0	0	0	2	0	3	1	3	1	2	1	1	1	2	1	1	10			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:42853645T>C	ENST00000455697.1	-	8	2747	c.2462A>G	c.(2461-2463)aAg>aGg	p.K821R	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K821R|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K821R|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K821R|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K821R	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	821	Poly-Lys.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTTGTGTCCCTTTTTCTTCTT	0.403													5	95					0	0	0	0	C	42853645	T	C	42853645	3	2	121	1	0	0	0	0	1	0	0	0	12566	1609	56	5	37	5	PRICKLE1	12	42853645	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	107888	42853645	90998250	300	23373											
ASB8	140461	broad.mit.edu	37	chr12	48543613	48543613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgctctctaggagagcccGcacacactcagcattgttct	8	9	8	16	2	3	1	1	0	2	1	4	2	3	1	2	1	2	4	2	1	1	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:48543613G>A	ENST00000317697.3	-	4	572	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.R135W	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	135					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						AGGAGAGCCCGCACACACTCA	0.527													24	24					0	0	0	0	A	48543613	G	A	48543613	3	1	121	1	0	0	0	0	1	0	0	0	1033	1086	38	1	467	1	ASB8	12	48543613	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	5689968	48543613	85308282	301	23374											
NCKAP5L	57701	broad.mit.edu	37	chr12	50189495	50189495	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttggcttctagctgctcCagtggcctgtggatggaggg	4	11	15	11	0	1	0	0	0	1	0	2	2	2	2	3	5	2	3	3	5	1	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:50189495C>G	ENST00000335999.6	-	8	2349	c.2148G>C	c.(2146-2148)ctG>ctC	p.L716L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	712										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTAGCTGCTCCAGTGGCCTGT	0.647													7	3					0	0	0	0	G	50189495	C	G	50189495	2	3	121	1	0	0	0	0	0	0	0	1	10294	581	21	4		4	NCKAP5L	12	50189495	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	1645882	50189495	83662400	302	23375											
TENC1	23371	broad.mit.edu	37	chr12	53451445	53451445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatccccatgctgccaGcctttgaacctggcacaggt	7	10	9	15	0	1	1	1	1	0	0	2	1	2	1	5	2	5	3	5	2	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:53451445G>T	ENST00000314250.6	+	12	1230	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	TENC1_ENST00000546602.1_Missense_Mutation_p.A314S|TENC1_ENST00000379902.3_Missense_Mutation_p.A190S|TENC1_ENST00000451358.1_Missense_Mutation_p.A314S|TENC1_ENST00000552570.1_Missense_Mutation_p.A314S|TENC1_ENST00000314276.3_Missense_Mutation_p.A324S|TENC1_ENST00000549700.1_Missense_Mutation_p.A314S	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	314	C2 tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CATGCTGCCAGCCTTTGAACC	0.562													79	116					6.43283e-47	9.51485e-47	1	0	T	53451445	G	T	53451445	3	4	121	1	0	0	0	0	1	0	0	0	15852	971	34	4	1095	4	TENC1	12	53451445	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	3261950	53451445	80400450	303	23376											
AGAP2	116986	broad.mit.edu	37	chr12	58131112	58131112	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggctgcgcggaagcagcGgtgacagcagtggctggact	7	5	20	9	3	0	1	0	1	0	0	0	3	0	3	0	6	4	4	0	6	1	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:58131112G>A	ENST00000547588.1	-	1	917	c.918C>T	c.(916-918)acC>acT	p.T306T	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	306	Interaction with PLCG1 (By similarity).				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						CGGAAGCAGCGGTGACAGCAG	0.677													26	28					0	0	0	0	A	58131112	G	A	58131112	2	1	121	1	0	0	0	0	0	0	0	1	368	1103	39	1		1	AGAP2	12	58131112	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	4679667	58131112	75720783	304	23377											
BBS10	79738	broad.mit.edu	37	chr12	76740795	76740795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgatatgccattcacccCtgcataataactaactaaat	15	11	3	12	0	1	1	1	1	0	0	1	1	1	1	3	0	4	1	3	0	6	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:76740795C>A	ENST00000393262.3	-	2	1053	c.970G>T	c.(970-972)Ggg>Tgg	p.G324W		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	324					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CCATTCACCCCTGCATAATAA	0.368									Bardet-Biedl syndrome				11	22					3.07112e-06	3.46971e-06	1	0	A	76740795	C	A	76740795	3	1	121	1	0	0	0	0	1	0	0	0	1340	681	24	4	1205	4	BBS10	12	76740795	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	18609683	76740795	57111100	305	23378											
TSPAN19	144448	broad.mit.edu	37	chr12	85408284	85408284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcacatttctgcatggatTatattcttgatgtttttgaa	9	19	8	5	0	3	2	1	2	2	0	3	3	3	3	0	2	1	2	0	2	3	7			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:85408284T>C	ENST00000532498.2	-	9	809	c.729A>G	c.(727-729)atA>atG	p.I243M		NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	243						integral to membrane				ovary(1)	1						CTGCATGGATTATATTCTTGA	0.274													9	20					0	0	0	0	C	85408284	T	C	85408284	3	2	121	1	0	0	0	0	1	0	0	0	16738	1744	61	5	21	5	TSPAN19	12	85408284	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	8667489	85408284	48443611	306	23379											
MGAT4C	25834	broad.mit.edu	37	chr12	86383257	86383257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagaatgacactgtagaaCgttttctcaggcatctcatt	12	12	7	10	1	2	3	2	1	2	2	4	3	2	3	1	1	1	3	1	1	4	4	rs145205649		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:86383257C>A	ENST00000604798.1	-	6	1272	c.68G>T	c.(67-69)cGt>cTt	p.R23L	MGAT4C_ENST00000552808.2_Missense_Mutation_p.R23L|MGAT4C_ENST00000552435.2_Missense_Mutation_p.R23L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R23L|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R23L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R23L|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R52L			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	23					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CACTGTAGAACGTTTTCTCAG	0.323													11	10					0.0692343	0.0708351	1	0	A	86383257	C	A	86383257	3	1	121	1	0	0	0	0	1	0	0	0	9616	536	19	3	1380	3	MGAT4C	12	86383257	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	974973	86383257	47468638	307	23380											
POC1B	282809	broad.mit.edu	37	chr12	89819073	89819073	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttgttggcaaacattcTggtgacattaaggaagggtt	10	13	14	4	0	1	1	0	1	1	0	1	2	1	2	0	5	1	4	0	5	3	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:89819073T>C	ENST00000393179.4	-	9	1420	c.807A>G	c.(805-807)ccA>ccG	p.P269P	POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000549504.1_3'UTR|POC1B_ENST00000313546.3_Silent_p.P399P|POC1B_ENST00000549035.1_Silent_p.P357P|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000541909.1_3'UTR					POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GCAAACATTCTGGTGACATTA	0.448													44	55					0	0	0	0	C	89819073	T	C	89819073	2	2	121	1	0	0	0	0	0	0	0	1	12248	1567	55	5		5	POC1B	12	89819073	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	3435816	89819073	44032822	308	23381											
STAB2	55576	broad.mit.edu	37	chr12	104054501	104054501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccacccctcacatcaggaGcatggccaaccagctcatac	11	6	6	18	0	3	0	3	0	0	0	4	1	4	1	5	2	4	2	5	2	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:104054501G>T	ENST00000388887.2	+	17	2033	c.1829G>T	c.(1828-1830)aGc>aTc	p.S610I		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	610	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CACATCAGGAGCATGGCCAAC	0.478													21	38					2.52088e-20	3.51335e-20	1	0	T	104054501	G	T	104054501	3	4	121	1	0	0	0	0	1	0	0	0	15328	971	34	4	1895	4	STAB2	12	104054501	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	14235428	104054501	29797394	309	23382											
IFT81	28981	broad.mit.edu	37	chr12	110566905	110566905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaccaagtgagtttcttcaGgatgaaactgtggctgacac	11	11	11	8	0	2	3	1	3	1	0	2	4	2	4	1	2	2	3	1	2	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:110566905G>T	ENST00000242591.5	+	4	905	c.399G>T	c.(397-399)caG>caT	p.Q133H	IFT81_ENST00000552912.1_Missense_Mutation_p.Q133H|IFT81_ENST00000361948.4_Missense_Mutation_p.Q133H	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	133					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGTTTCTTCAGGATGAAACTG	0.348													15	18					3.52763e-06	3.96859e-06	1	0	T	110566905	G	T	110566905	3	4	121	1	0	0	0	0	1	0	0	0	7618	991	35	4	409	4	IFT81	12	110566905	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	6512404	110566905	23284990	310	23383											
TAOK3	51347	broad.mit.edu	37	chr12	118682749	118682749	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttaattgccaccacctCactggtgtgagcatttgtag	8	14	8	11	0	2	1	1	1	1	0	2	1	2	1	3	1	2	2	3	1	2	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:118682749C>A	ENST00000392533.3	-	4	632	c.142G>T	c.(142-144)Gag>Tag	p.E48*	TAOK3_ENST00000419821.2_Nonsense_Mutation_p.E48*	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	48	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCACCACCTCACTGGTGTGA	0.373													23	37					9.57634e-11	1.20499e-10	1	0	A	118682749	C	A	118682749	4	1	121	1	0	0	0	0	0	1	0	0	15640	835	29	2	2626	2	TAOK3	12	118682749	Nonsense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	8115844	118682749	15169146	311	23384											
COQ5	84274	broad.mit.edu	37	chr12	120947830	120947830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattcatacctgatcaatgTgtgtgacattccggatccca	10	12	7	12	1	2	2	2	2	0	0	4	3	4	3	4	1	1	0	4	1	2	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:120947830T>C	ENST00000288532.6	-	4	711	c.671A>G	c.(670-672)cAc>cGc	p.H224R	COQ5_ENST00000445328.2_Missense_Mutation_p.H150R	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	224					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGATCAATGTGTGTGACATT	0.433													22	32					0	0	0	0	C	120947830	T	C	120947830	3	2	121	1	0	0	0	0	1	0	0	0	3778	1696	59	5	328	5	COQ5	12	120947830	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	2265081	120947830	12904065	312	23385											
CAMKK2	10645	broad.mit.edu	37	chr12	121707362	121707362	+	Frame_Shift_Del	DEL	A	A	-																															tgtcattttcattgtaggccAacttgacgacaccataggag																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:121707362delA	ENST00000324774.5	-	4	1370	c.542delT	c.(541-543)tgfs	p.L181fs	CAMKK2_ENST00000392473.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000412367.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000402834.4_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000538733.1_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000392474.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000347034.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000404169.3_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000446440.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000337174.3_Frame_Shift_Del_p.L181fs	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	181	Protein kinase.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTGTAGGCCAACTTGACGAC	0.473													2	4	---	---	---	---					-	121707362	A	-	121707362	7	5	121	1	0	1	0	1	0	0	0	0	2632	131	5	0	1290	0	CAMKK2	12	121707362	Frame_Shift_Del	DEL	A	TCGA-CN-A63W-01A-11D-A30E-08	759532	121707362	12144533	313	23386											
LCP1	3936	broad.mit.edu	37	chr13	46701752	46701752	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcattcctttccccaTgaggcaggcaaacacggtca	9	10	7	15	1	3	1	2	1	1	0	5	1	5	1	4	3	1	2	4	3	1	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr13:46701752T>G	ENST00000398576.2	-	19	2246	c.1858A>C	c.(1858-1860)Atg>Ctg	p.M620L	LCP1_ENST00000323076.2_Missense_Mutation_p.M620L|LCP1_ENST00000435666.2_Missense_Mutation_p.M189L			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	620	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CCTTTCCCCATGAGGCAGGCA	0.557			T	BCL6	NHL								42	22					0	0	0	0	G	46701752	T	G	46701752	3	3	121	1	0	0	0	0	1	0	0	0	8744	1464	51	5	29	5	LCP1	13	46701752	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08		46701752	68468126	314	23387											
CDADC1	81602	broad.mit.edu	37	chr13	49823102	49823102	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagcggcaaaaatctcagGtataatttgtttcatagttt	12	14	7	8	1	2	0	2	0	1	0	3	0	2	0	1	2	1	4	1	2	5	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr13:49823102G>T	ENST00000251108.6	+	2	290		c.e2+1		CDADC1_ENST00000496952.1_Splice_Site|CDADC1_ENST00000444959.1_Splice_Site|CDADC1_ENST00000538056.1_Splice_Site	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1								hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		AAAATCTCAGGTATAATTTGT	0.408													36	23					2.47316e-13	3.21087e-13	1	0	T	49823102	G	T	49823102	5	4	121	1	0	0	0	0	0	0	1	0	3082	1275	44	4	184	4	CDADC1	13	49823102	Splice_Site	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	3121350	49823102	65346776	315	23388											
NEK5	341676	broad.mit.edu	37	chr13	52646088	52646088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaacacatacctgcttctGggcagtgaagtttttcaaat	13	12	8	8	0	2	2	1	1	1	1	2	2	2	2	1	1	3	3	1	1	4	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr13:52646088G>A	ENST00000355568.4	-	21	2055	c.1916C>T	c.(1915-1917)cCa>cTa	p.P639L		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	639							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ACCTGCTTCTGGGCAGTGAAG	0.403													24	5					0	0	0	0	A	52646088	G	A	52646088	3	1	121	1	0	0	0	0	1	0	0	0	10397	1348	47	4	218	4	NEK5	13	52646088	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2822986	52646088	62523790	316	23389											
GAS6	2621	broad.mit.edu	37	chr13	114535790	114535790	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctcccctgagccccaCgccccggccgcgcagcgggt	3	5	12	21	5	0	1	0	1	0	0	2	1	2	1	8	2	3	2	8	2	0	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr13:114535790C>G	ENST00000357389.3	-	9	1051	c.899G>C	c.(898-900)cGt>cCt	p.R300P	GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Intron|GAS6_ENST00000450766.1_Intron|GAS6_ENST00000418959.3_5'UTR|GAS6_ENST00000327773.6_Intron			Q14393	GAS6_HUMAN	growth arrest-specific 6	300					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CTGAGCCCCACGCCCCGGCCG	0.716													24	9					0	0	0	0	G	114535790	C	G	114535790	3	3	121	1	0	0	0	0	1	0	0	0	6298	551	19	3		3	GAS6	13	114535790	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	61889702	114535790	634088	317	23390											
OR4K13	390433	broad.mit.edu	37	chr14	20502211	20502211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgagagagtggagaaaGccttagaggatcgactagca	14	6	15	6	1	0	4	0	1	0	3	1	9	0	5	1	2	3	2	1	2	3	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:20502211G>A	ENST00000315693.2	-	1	708	c.707C>T	c.(706-708)gCt>gTt	p.A236V		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGTGGAGAAAGCCTTAGAGGA	0.483													22	35					0	0	0	0	A	20502211	G	A	20502211	3	1	121	1	0	0	0	0	1	0	0	0	11139	971	34	4	209	4	OR4K13	14	20502211	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08		20502211	86847329	318	23391											
RPGRIP1	57096	broad.mit.edu	37	chr14	21793083	21793083	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggagacagattcgctttTcttacactaccttcaagagg	11	12	9	9	1	2	3	1	0	1	3	3	5	2	3	1	2	2	1	1	2	3	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:21793083T>A	ENST00000206660.6	+	14	2069	c.2069T>A	c.(2068-2070)tTc>tAc	p.F690Y	RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.F49Y|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.F690Y|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.F652Y			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	690					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GATTCGCTTTTCTTACACTAC	0.507													69	86					0	0	0	0	A	21793083	T	A	21793083	3	1	121	1	0	0	0	0	1	0	0	0	13634	1783	62	5	2123	5	RPGRIP1	14	21793083	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	1290872	21793083	85556457	319	23392											
PCK2	5106	broad.mit.edu	37	chr14	24572007	24572007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caactctcgattttgtgcccCggctcgccagtgccccatca	6	10	8	17	3	2	0	1	0	1	0	4	1	2	0	5	1	3	1	5	1	1	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:24572007C>T	ENST00000545054.2	+	8	1796	c.878C>T	c.(877-879)cCg>cTg	p.P293L	PCK2_ENST00000561286.1_Missense_Mutation_p.P293L|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.P293L|PCK2_ENST00000216780.4_Missense_Mutation_p.P427L|PCK2_ENST00000559250.1_Missense_Mutation_p.P439L			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	427					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TTTTGTGCCCCGGCTCGCCAG	0.562													20	109					0	0	0	0	T	24572007	C	T	24572007	3	4	121	1	0	0	0	0	1	0	0	0	11653	652	23	1	1402	1	PCK2	14	24572007	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	2778924	24572007	82777533	320	23393											
MAPK1IP1L	93487	broad.mit.edu	37	chr14	55529486	55529486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctggactcccaccaagtGcaacaccctccactgtgcct	9	8	6	18	0	1	0	0	0	1	0	3	1	3	1	5	1	3	1	5	1	2	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:55529486G>T	ENST00000395468.3	+	3	346	c.169G>T	c.(169-171)Gca>Tca	p.A57S	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	57	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						CCCACCAAGTGCAACACCCTC	0.582													19	47					1.96292e-10	2.4525e-10	1	0	T	55529486	G	T	55529486	3	4	121	1	0	0	0	0	1	0	0	0	9347	1319	46	4	175	4	MAPK1IP1L	14	55529486	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	30957479	55529486	51820054	321	23394											
ADAM20	8748	broad.mit.edu	37	chr14	70989856	70989856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caataccacagtgaccgaaaCggtttccttgggtgttgatt	10	12	10	9	2	0	2	0	2	0	0	1	3	1	2	3	2	2	2	3	2	3	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:70989856C>A	ENST00000256389.3	-	2	2013	c.1769G>T	c.(1768-1770)cGt>cTt	p.R590L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	540	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GTGACCGAAACGGTTTCCTTG	0.423													42	40					2.6416e-12	3.39634e-12	1	0	A	70989856	C	A	70989856	3	1	121	1	0	0	0	0	1	0	0	0	242	536	19	3	565	3	ADAM20	14	70989856	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	15460370	70989856	36359684	322	23395											
KCNK13	56659	broad.mit.edu	37	chr14	90651103	90651103	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcaacatctccatagAgacagacggggtggcagaga	12	5	13	11	2	1	3	0	0	1	3	2	5	1	3	2	3	2	3	2	3	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:90651103A>G	ENST00000282146.4	+	2	1424	c.983A>G	c.(982-984)gAg>gGg	p.E328G		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	328						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ATCTCCATAGAGACAGACGGG	0.627													30	68					0	0	0	0	G	90651103	A	G	90651103	3	3	121	1	0	0	0	0	1	0	0	0	8114	304	11	5	989	5	KCNK13	14	90651103	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	19661247	90651103	16698437	323	23396											
CCDC88C	440193	broad.mit.edu	37	chr14	91826003	91826003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccagacagtgggtctctgCcaatcatcaaaacattgggc	12	8	9	12	0	3	1	2	0	1	1	4	1	3	1	2	2	2	0	2	2	3	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:91826003C>A	ENST00000389857.6	-	4	409	c.323G>T	c.(322-324)gGc>gTc	p.G108V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	108					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGGGTCTCTGCCAATCATCAA	0.527													5	9					0.184627	0.186737	1	0	A	91826003	C	A	91826003	3	1	121	1	0	0	0	0	1	0	0	0	2892	739	26	4	5871	4	CCDC88C	14	91826003	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	1174900	91826003	15523537	324	23397											
RIN3	79890	broad.mit.edu	37	chr14	93081801	93081801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgaggacatcttcagattGattgcgttctactgtgtcag	8	16	10	7	1	4	3	2	2	2	1	4	4	4	4	0	1	2	1	0	1	1	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:93081801G>C	ENST00000216487.7	+	4	576	c.417G>C	c.(415-417)ttG>ttC	p.L139F	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	139	SH2.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCTTCAGATTGATTGCGTTCT	0.537													38	103					0	0	0	0	C	93081801	G	C	93081801	3	2	121	1	0	0	0	0	1	0	0	0	13458	1281	45	2	431	2	RIN3	14	93081801	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1255798	93081801	14267739	325	23398											
SERPINA6	866	broad.mit.edu	37	chr14	94776320	94776320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccctggtgcttgccaGgtcaaagggctgtgtccatg	5	11	12	13	0	1	0	1	0	0	0	4	0	4	0	4	3	2	2	4	3	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:94776320G>T	ENST00000341584.3	-	3	783	c.637C>A	c.(637-639)Ctg>Atg	p.L213M		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	213					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GTGCTTGCCAGGTCAAAGGGC	0.532													14	28					2.61681e-11	3.3163e-11	1	0	T	94776320	G	T	94776320	3	4	121	1	0	0	0	0	1	0	0	0	14180	991	35	4	592	4	SERPINA6	14	94776320	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1694519	94776320	12573220	326	23399											
TCL1B	9623	broad.mit.edu	37	chr14	96152827	96152827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccgaagcttctgtgcGtctaggggtgccccctggcc	3	9	14	15	2	2	0	0	0	2	0	3	1	3	0	5	4	3	1	5	4	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:96152827G>T	ENST00000340722.7	+	1	74	c.23G>T	c.(22-24)cGt>cTt	p.R8L	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	8										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GCTTCTGTGCGTCTAGGGGTG	0.602													17	106					5.35267e-07	6.17884e-07	1	0	T	96152827	G	T	96152827	3	4	121	1	0	0	0	0	1	0	0	0	15799	1145	40	3	25	3	TCL1B	14	96152827	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1376507	96152827	11196713	327	23400											
RTL1	388015	broad.mit.edu	37	chr14	101347319	101347319	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggctgctgtgtggctGggtggggcctcctgcacgtc	1	11	19	10	1	0	0	0	0	0	0	2	0	1	0	2	6	2	4	2	6	0	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:101347319G>T	ENST00000534062.1	-	1	3865	c.3807C>A	c.(3805-3807)ccC>ccA	p.P1269P		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	1269										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTGTGTGGCTGGGTGGGGCCT	0.637													4	1					0.014758	0.0153959	1	0	T	101347319	G	T	101347319	2	4	121	1	0	0	0	0	0	0	0	1	13809	1335	47	4		4	RTL1	14	101347319	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	5194492	101347319	6002221	328	23401											
OR4M2	390538	broad.mit.edu	37	chr15	22369286	22369286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaggtgagaataccaacagGgccatgtccacctgctattc	11	9	9	12	0	1	1	1	1	0	1	3	2	2	1	4	2	3	1	4	2	4	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:22369286G>T	ENST00000332663.2	+	1	809	c.711G>T	c.(709-711)agG>agT	p.R237S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATACCAACAGGGCCATGTCCA	0.458													35	133					2.75727e-19	3.78323e-19	1	0	T	22369286	G	T	22369286	3	4	121	1	0	0	0	0	1	0	0	0	11147	1223	43	4	713	4	OR4M2	15	22369286	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08		22369286	80162106	329	23402											
ATP10A	57194	broad.mit.edu	37	chr15	25959330	25959330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcagctgggtgtgaacCtccgcaggaagtcttctatc	8	10	12	11	1	3	1	1	1	2	0	5	2	4	2	2	3	2	3	2	3	3	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:25959330C>A	ENST00000356865.6	-	10	1946	c.1835G>T	c.(1834-1836)aGg>aTg	p.R612M		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	612					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGTGTGAACCTCCGCAGGAA	0.597													4	29					0.000602214	0.00064732	1	0	A	25959330	C	A	25959330	3	1	121	1	0	0	0	0	1	0	0	0	1120	681	24	4	2712	4	ATP10A	15	25959330	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	3590044	25959330	76572062	330	23403											
GABRG3	2567	broad.mit.edu	37	chr15	27772638	27772638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccaggaagtccttgccaCgcgtgtcctacgtgaccgcc	6	8	11	16	5	0	1	0	1	0	0	3	2	2	2	6	1	2	0	6	1	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:27772638C>A	ENST00000333743.6	+	8	1179	c.925C>A	c.(925-927)Cgc>Agc	p.R309S	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	309					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GTCCTTGCCACGCGTGTCCTA	0.562													14	18					3.27435e-08	3.89839e-08	1	0	A	27772638	C	A	27772638	3	1	121	1	0	0	0	0	1	0	0	0	6221	536	19	3	955	3	GABRG3	15	27772638	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	1813308	27772638	74758754	331	23404											
GABRG3	2567	broad.mit.edu	37	chr15	27772733	27772733	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgccaccctcaactactaTtccagctgtagaaaaccaac	14	9	4	14	0	1	1	1	0	0	1	2	1	2	1	4	0	6	2	4	0	8	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:27772733T>A	ENST00000333743.6	+	8	1274	c.1020T>A	c.(1018-1020)taT>taA	p.Y340*	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	340					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TCAACTACTATTCCAGCTGTA	0.537													8	2					0	0	0	0	A	27772733	T	A	27772733	4	1	121	1	0	0	0	0	0	1	0	0	6221	1500	52	5	1050	5	GABRG3	15	27772733	Nonsense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	95	27772733	74758659	332	23405											
HERC2	8924	broad.mit.edu	37	chr15	28408273	28408273	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccatgccggaaagcacCgcggagagcacatccctgcc	9	4	11	17	3	0	1	0	0	0	1	2	3	2	2	6	2	4	2	6	2	1	0	rs142209264		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:28408273C>A	ENST00000261609.7	-	69	10821	c.10713G>T	c.(10711-10713)gcG>gcT	p.A3571A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3571					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGGAAAGCACCGCGGAGAGCA	0.647													4	54					0.150653	0.153251	1	0	A	28408273	C	A	28408273	2	1	121	1	0	0	0	0	0	0	0	1	7108	639	23	3		3	HERC2	15	28408273	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	635540	28408273	74123119	333	23406											
LTK	4058	broad.mit.edu	37	chr15	41803370	41803370	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggtgcacctacccctgtagCcgccgccgcctccgcccgca	4	5	10	22	6	0	0	0	0	0	0	1	0	1	0	9	1	3	3	9	1	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:41803370C>G	ENST00000263800.6	-	7	1085	c.989G>C	c.(988-990)gGc>gCc	p.G330A	LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Intron|LTK_ENST00000453182.2_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	330					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		ACCCCTGTAgccgccgccgcc	0.731										TSP Lung(18;0.14)			4	2					0	0	0	0	G	41803370	C	G	41803370	3	3	121	1	0	0	0	0	1	0	0	0	9144	739	26	4	1661	4	LTK	15	41803370	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	13395097	41803370	60728022	334	23407											
EHD4	30844	broad.mit.edu	37	chr15	42193002	42193002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagtcgcagtcggccagCttccagatcttgcccaggac	7	8	11	15	3	1	1	0	0	1	1	5	2	2	2	3	2	2	3	3	2	0	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:42193002C>A	ENST00000220325.4	-	6	1550	c.1467G>T	c.(1465-1467)aaG>aaT	p.K489N		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	489	EF-hand.|EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		AGTCGGCCAGCTTCCAGATCT	0.582													19	13					7.45023e-12	9.50978e-12	1	0	A	42193002	C	A	42193002	3	1	121	1	0	0	0	0	1	0	0	0	5016	796	28	4	162	4	EHD4	15	42193002	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	389632	42193002	60338390	335	23408											
GANC	2595	broad.mit.edu	37	chr15	42579976	42579976	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctctaaaacccagatttGaagttccggatgtcctcaca	11	11	6	13	1	2	2	1	1	1	1	5	3	5	3	4	1	1	1	4	1	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:42579976G>C	ENST00000318010.8	+	4	529	c.289G>C	c.(289-291)Gaa>Caa	p.E97Q	GANC_ENST00000566442.1_Missense_Mutation_p.E97Q	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	97					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ACCCAGATTTGAAGTTCCGGA	0.393													21	25					0	0	0	0	C	42579976	G	C	42579976	3	2	121	1	0	0	0	0	1	0	0	0	6283	1291	45	2	303	2	GANC	15	42579976	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	386974	42579976	59951416	336	23409											
MYEF2	50804	broad.mit.edu	37	chr15	48443749	48443749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgctccatgctactagtCatcgcaccacggtacagctc	8	10	7	16	3	2	0	1	0	1	0	6	0	3	0	2	1	4	5	2	1	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:48443749C>A	ENST00000324324.7	-	13	1506	c.1227G>T	c.(1225-1227)atG>atT	p.M409I	MYEF2_ENST00000267836.6_Missense_Mutation_p.M409I	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	409	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGCTACTAGTCATCGCACCAC	0.383													20	159					2.39556e-15	3.18011e-15	1	0	A	48443749	C	A	48443749	3	1	121	1	0	0	0	0	1	0	0	0	10094	826	29	2	595	2	MYEF2	15	48443749	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	5863773	48443749	54087643	337	23410											
FBN1	2200	broad.mit.edu	37	chr15	48797310	48797310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgacgcaacgcccattCatgcagatcccaggggtttc	8	10	11	12	2	1	2	1	1	0	1	3	2	2	2	2	2	2	4	2	2	1	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:48797310C>A	ENST00000316623.5	-	16	2327	c.1872G>T	c.(1870-1872)atG>atT	p.M624I		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	624	EGF-like 10; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AACGCCCATTCATGCAGATCC	0.443													5	52					0.000602214	0.00064732	1	0	A	48797310	C	A	48797310	3	1	121	1	0	0	0	0	1	0	0	0	5747	826	29	2	6947	2	FBN1	15	48797310	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	353561	48797310	53734082	338	23411											
SECISBP2L	9728	broad.mit.edu	37	chr15	49284577	49284577	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccctggctccagcaccTcaggcgcctctgcttcctct	4	10	7	20	1	3	0	1	0	2	0	6	0	6	0	6	2	2	3	6	2	0	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:49284577T>G	ENST00000559471.1	-	18	3433	c.3170A>C	c.(3169-3171)gAg>gCg	p.E1057A	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E1012A	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	1057										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTCCAGCACCTCAGGCGCCTC	0.542													26	14					0	0	0	0	G	49284577	T	G	49284577	3	3	121	1	0	0	0	0	1	0	0	0	14094	1551	54	5	139	5	SECISBP2L	15	49284577	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	487267	49284577	53246815	339	23412											
USP8	9101	broad.mit.edu	37	chr15	50784907	50784907	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttcctcaggccaacatgTtatcctaaagctgagatctc	10	13	6	12	0	3	1	1	1	2	1	6	2	5	1	3	1	2	2	3	1	4	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:50784907T>G	ENST00000433963.1	+	16	2744	c.2244T>G	c.(2242-2244)tgT>tgG	p.C748W	USP8_ENST00000425032.3_Missense_Mutation_p.C642W|USP8_ENST00000396444.3_Missense_Mutation_p.C748W|USP8_ENST00000307179.4_Missense_Mutation_p.C748W	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	748					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GGCCAACATGTTATCCTAAAG	0.408													7	34					0	0	0	0	G	50784907	T	G	50784907	3	3	121	1	0	0	0	0	1	0	0	0	17185	1731	60	5	2298	5	USP8	15	50784907	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	1500330	50784907	51746485	340	23413											
UNC13C	440279	broad.mit.edu	37	chr15	54305531	54305531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagaaaaccaggcacaatCaacacacacaatgccagtta	19	4	5	13	0	1	1	1	0	0	1	1	1	1	1	2	1	3	2	2	1	6	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:54305531C>T	ENST00000545554.1	+	1	431	c.431C>T	c.(430-432)tCa>tTa	p.S144L	UNC13C_ENST00000537900.1_Missense_Mutation_p.S144L|UNC13C_ENST00000260323.11_Missense_Mutation_p.S144L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	144					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGGCACAATCAACACACACA	0.458													4	26					0	0	0	0	T	54305531	C	T	54305531	3	4	121	1	0	0	0	0	1	0	0	0	17082	838	29	2	433	2	UNC13C	15	54305531	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	3520624	54305531	48225861	341	23414											
RNF111	54778	broad.mit.edu	37	chr15	59323323	59323323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgcaaaagccagcaggctgGcccttcgtatgtgcagaatt	11	8	11	11	2	0	1	0	0	0	1	1	1	0	1	2	2	3	5	2	2	4	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:59323323G>T	ENST00000348370.4	+	2	735	c.302G>T	c.(301-303)gGc>gTc	p.G101V	RNF111_ENST00000561186.1_Missense_Mutation_p.G101V|RNF111_ENST00000434298.1_Missense_Mutation_p.G101V|RNF111_ENST00000557998.1_Missense_Mutation_p.G101V|RNF111_ENST00000559209.1_Missense_Mutation_p.G101V	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	101					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CAGCAGGCTGGCCCTTCGTAT	0.413													32	15					1.39806e-14	1.8421e-14	1	0	T	59323323	G	T	59323323	3	4	121	1	0	0	0	0	1	0	0	0	13510	1203	42	4	304	4	RNF111	15	59323323	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	5017792	59323323	43208069	342	23415											
HERC1	8925	broad.mit.edu	37	chr15	63970261	63970261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggtcagcgaggccatgccTagtatgtttacctttctctt	7	14	10	10	1	2	0	1	0	1	0	3	2	2	0	3	2	3	2	3	2	3	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:63970261T>C	ENST00000443617.2	-	37	6940	c.6853A>G	c.(6853-6855)Agg>Ggg	p.R2285G	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2285					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGGCCATGCCTAGTATGTTTA	0.512													3	29					0	0	0	0	C	63970261	T	C	63970261	3	2	121	1	0	0	0	0	1	0	0	0	7107	1521	53	5	7900	5	HERC1	15	63970261	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	4646938	63970261	38561131	343	23416											
CSPG4	1464	broad.mit.edu	37	chr15	75968495	75968495	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacctccagccccagcCtcccgtcctcaaggtcctgc	5	7	7	22	1	1	0	1	0	0	0	5	0	5	0	9	1	4	0	9	1	1	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:75968495C>G	ENST00000308508.5	-	10	6457	c.6365G>C	c.(6364-6366)aGg>aCg	p.R2122T		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2122	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGCCCCAGCCTCCCGTCCTC	0.736													4	4					0	0	0	0	G	75968495	C	G	75968495	3	3	121	1	0	0	0	0	1	0	0	0	3992	681	24	4	607	4	CSPG4	15	75968495	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	11998234	75968495	26562897	344	23417											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84639319	84639319	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggtcggcgcatccccctCagtgagatgatgtgcaggga	10	7	14	10	2	1	2	1	2	0	1	3	4	2	3	2	3	1	2	2	3	1	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:84639319C>T	ENST00000286744.5	+	20	2798	c.2574C>T	c.(2572-2574)ctC>ctT	p.L858L	ADAMTSL3_ENST00000567476.1_Silent_p.L858L|ADAMTSL3_ENST00000567716.1_3'UTR	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	858	TSP type-1 7.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCATCCCCCTCAGTGAGATGA	0.527													4	67					0	0	0	0	T	84639319	C	T	84639319	2	4	121	1	0	0	0	0	0	0	0	1	276	813	29	2		2	ADAMTSL3	15	84639319	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	8670824	84639319	17892073	345	23418											
KIF7	374654	broad.mit.edu	37	chr15	90190895	90190895	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttctcctcctccagccGcgccacctggttctgcaggg	3	10	11	17	3	2	0	0	0	2	0	6	0	4	0	6	3	2	3	6	3	0	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:90190895G>T	ENST00000394412.3	-	6	1568	c.1492C>A	c.(1492-1494)Cgg>Agg	p.R498R		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	498					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCCTCCAGCCGCGCCACCTGG	0.672											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	5					3.09899e-07	3.59293e-07	1	0	T	90190895	G	T	90190895	2	4	121	1	0	0	0	0	0	0	0	1	8360	1086	38	3		3	KIF7	15	90190895	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	5551576	90190895	12340497	346	23419											
CHTF18	63922	broad.mit.edu	37	chr16	845787	845787	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgccccaggccctgctcctcGatgccctctgcctgctcctg	2	9	9	21	2	1	0	0	0	1	0	4	1	3	0	7	1	4	2	7	1	0	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:845787G>C	ENST00000317063.6	+	19	2905	c.2905G>C	c.(2905-2907)Gat>Cat	p.D969H	CHTF18_ENST00000455171.2_Missense_Mutation_p.D788H|CHTF18_ENST00000262315.9_Missense_Mutation_p.D760H			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	760					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCTGCTCCTCGATGCCCTCTG	0.692													3	19					0	0	0	0	C	845787	G	C	845787	3	2	121	1	0	0	0	0	1	0	0	0	3443	1058	37	3	2344	3	CHTF18	16	845787	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08		845787	89508966	347	23420											
CEMP1	752014	broad.mit.edu	37	chr16	2580999	2580999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcagggagaggcaggtgaGgttctcagccgatgtgttag	9	8	18	6	1	1	2	1	1	1	1	2	4	1	2	1	5	1	4	1	5	1	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:2580999G>C	ENST00000382350.1	-	1	421	c.76C>G	c.(76-78)Ctc>Gtc	p.L26V	AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.L26V|CEMP1_ENST00000565480.1_Missense_Mutation_p.L26V|AMDHD2_ENST00000565570.1_3'UTR			Q6PRD7	CEMP1_HUMAN	cementum protein 1	26						cytoplasm				lung(1)|skin(1)	2						AGGCAGGTGAGGTTCTCAGCC	0.627													6	21					0	0	0	0	C	2580999	G	C	2580999	3	2	121	1	0	0	0	0	1	0	0	0	3253	1000	35	4	671	4	CEMP1	16	2580999	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1735212	2580999	87773754	348	23421											
SRRM2	23524	broad.mit.edu	37	chr16	2812438	2812438	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtacgacgcaggtctcgtAgtagatcaccagccaggaga	12	6	12	11	3	2	2	1	0	1	2	3	4	2	2	2	2	2	4	2	2	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:2812438A>T	ENST00000301740.8	+	11	2458	c.1909A>T	c.(1909-1911)Agt>Tgt	p.S637C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	637	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGGTCTCGTAGTAGATCACC	0.622													5	82					0	0	0	0	T	2812438	A	T	2812438	3	4	121	1	0	0	0	0	1	0	0	0	15259	420	15	5	1947	5	SRRM2	16	2812438	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	231439	2812438	87542315	349	23422											
GRIN2A	2903	broad.mit.edu	37	chr16	9923360	9923360	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagattggctgtgtagctagCcaggaatatgacagcgaaga	13	8	13	7	1	0	3	0	1	0	2	0	5	0	4	1	2	3	3	1	2	5	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:9923360C>A	ENST00000396573.2	-	10	2236	c.1927G>T	c.(1927-1929)Gct>Tct	p.A643S	GRIN2A_ENST00000396575.2_Missense_Mutation_p.A643S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A643S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A486S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A643S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A643S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	643					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.A643S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGTAGCTAGCCAGGAATATG	0.507													40	11					4.32679e-17	5.81652e-17	1	0	A	9923360	C	A	9923360	3	1	121	1	0	0	0	0	1	0	0	0	6829	739	26	4	2487	4	GRIN2A	16	9923360	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	7110922	9923360	80431393	350	23423											
MKL2	57496	broad.mit.edu	37	chr16	14341304	14341304	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagctgctgctcccagtGtccatccagggctcgagtgt	5	10	12	14	1	1	0	1	0	0	0	5	1	4	0	3	1	3	5	3	1	0	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:14341304G>T	ENST00000571589.1	+	12	2359	c.2187G>T	c.(2185-2187)gtG>gtT	p.V729V	MKL2_ENST00000574045.1_Intron|MKL2_ENST00000341243.5_Silent_p.V718V|MKL2_ENST00000318282.5_Intron	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	718	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCTCCCAGTGTCCATCCAGG	0.557													6	6					0.00116845	0.0012509	1	0	T	14341304	G	T	14341304	2	4	121	1	0	0	0	0	0	0	0	1	9671	1392	48	4		4	MKL2	16	14341304	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	4417944	14341304	76013449	351	23424											
PRKCB	5579	broad.mit.edu	37	chr16	24135177	24135177	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggccaagatcagtcagggaAccaaggtcccggaagaaaag	15	3	14	9	1	2	2	2	0	0	2	3	4	3	4	3	4	1	0	3	4	6	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:24135177A>G	ENST00000303531.7	+	9	1092	c.940A>G	c.(940-942)Acc>Gcc	p.T314A	PRKCB_ENST00000321728.7_Missense_Mutation_p.T314A	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	314					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CAGTCAGGGAACCAAGGTCCC	0.473													31	9					0	0	0	0	G	24135177	A	G	24135177	3	3	121	1	0	0	0	0	1	0	0	0	12588	43	2	5	974	5	PRKCB	16	24135177	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	9793873	24135177	66219576	352	23425											
CDH8	1006	broad.mit.edu	37	chr16	61935290	61935290	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcatggatatctccagttaCatcatttatttgaaatatgg	13	15	7	6	0	2	1	1	1	1	0	3	2	2	2	1	2	2	2	1	2	5	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:61935290C>A	ENST00000577390.1	-	3	1294	c.340G>T	c.(340-342)Gta>Tta	p.V114L	CDH8_ENST00000577730.1_Missense_Mutation_p.V114L|CDH8_ENST00000299345.6_Missense_Mutation_p.V114L|CDH8_ENST00000584337.1_Missense_Mutation_p.V114L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	114	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTCCAGTTACATCATTTATT	0.423													27	33					4.72057e-08	5.58268e-08	1	0	A	61935290	C	A	61935290	3	1	121	1	0	0	0	0	1	0	0	0	3145	478	17	4	2099	4	CDH8	16	61935290	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	37800113	61935290	28419463	353	23426											
NAE1	8883	broad.mit.edu	37	chr16	66839679	66839679	+	Splice_Site	DEL	C	C	-																															cttctcatatatggaactcaCcccccaagaatgcagcaatg																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:66839679delC	ENST00000379463.2	-	20	1670		c.e20+1		NAE1_ENST00000290810.3_Splice_Site|NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000394074.2_Splice_Site	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1						apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	ATGGAACTCACCCCCCAAGAA	0.403													7	11	---	---	---	---					-	66839679	C	-	66839679	8	5	121	1	0	1	0	1	0	0	1	0	10209	521	18	0	116	0	NAE1	16	66839679	Splice_Site	DEL	C	TCGA-CN-A63W-01A-11D-A30E-08	4904389	66839679	23515074	354	23427											
HYDIN	54768	broad.mit.edu	37	chr16	70975619	70975619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaatgtatatatgctccCggctgccaatggccttcagc	9	11	10	11	1	1	1	1	1	0	1	2	2	2	1	3	2	3	3	3	2	5	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:70975619C>A	ENST00000393567.2	-	43	6923	c.6773G>T	c.(6772-6774)cGg>cTg	p.R2258L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2258								p.R2257L(1)|p.R2209L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TATATGCTCCCGGCTGCCAAT	0.552													31	52					2.75727e-19	3.78323e-19	1	0	A	70975619	C	A	70975619	3	1	121	1	0	0	0	0	1	0	0	0	7520	652	23	3	8768	3	HYDIN	16	70975619	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	4135940	70975619	19379134	355	23428											
FA2H	79152	broad.mit.edu	37	chr16	74761162	74761162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacagtcttagagaggccCtcaatgaggtctgagtggaa	12	8	13	8	0	3	4	1	2	2	2	3	6	3	5	1	3	0	0	1	3	3	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:74761162C>A	ENST00000219368.3	-	3	555	c.486G>T	c.(484-486)gaG>gaT	p.E162D	FA2H_ENST00000544337.1_Intron	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	162					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TAGAGAGGCCCTCAATGAGGT	0.587													9	17					0.00448238	0.0047319	1	0	A	74761162	C	A	74761162	3	1	121	1	0	0	0	0	1	0	0	0	5393	680	24	4	652	4	FA2H	16	74761162	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	3785543	74761162	15593591	356	23429											
CHST6	4166	broad.mit.edu	37	chr16	75512696	75512696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcacagttcctgcacgCggcggatcttggcaaagggc	8	6	14	13	4	1	0	0	0	1	0	2	1	2	1	1	4	2	4	1	4	1	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:75512696C>T	ENST00000332272.4	-	3	1210	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	CHST6_ENST00000390664.2_Missense_Mutation_p.R344H|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	344					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTCCTGCACGCGGCGGATCTT	0.657													28	46					0	0	0	0	T	75512696	C	T	75512696	3	4	121	1	0	0	0	0	1	0	0	0	3437	768	27	1	160	1	CHST6	16	75512696	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	751534	75512696	14842057	357	23430											
CMIP	80790	broad.mit.edu	37	chr16	81711921	81711921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaatccggaacggctGccagcagccgtgcgaccgga	11	3	15	12	5	0	0	0	0	0	0	1	5	1	3	4	4	5	2	4	4	3	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:81711921G>T	ENST00000537098.3	+	10	1148	c.1076G>T	c.(1075-1077)tGc>tTc	p.C359F	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.C265F|CMIP_ENST00000398040.4_Missense_Mutation_p.C206F	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	325						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CGGAACGGCTGCCAGCAGCCG	0.637													7	15					1.06961e-07	1.25656e-07	1	0	T	81711921	G	T	81711921	3	4	121	1	0	0	0	0	1	0	0	0	3608	1319	46	4	1136	4	CMIP	16	81711921	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	6199225	81711921	8642832	358	23431											
OSGIN1	29948	broad.mit.edu	37	chr16	83983096	83983096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctgccggggaaatatGcagtgcagacaagaggtacg	11	6	16	8	2	0	2	0	0	0	2	0	3	0	3	1	4	5	5	1	4	4	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:83983096G>A	ENST00000343939.2	+	1	425	c.42G>A	c.(40-42)atG>atA	p.M14I	OSGIN1_ENST00000361711.3_5'UTR|RP11-505K9.4_ENST00000561562.1_RNA			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	14					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGGGAAATATGCAGTGCAGAC	0.572													20	39					0	0	0	0	A	83983096	G	A	83983096	3	1	121	1	0	0	0	0	1	0	0	0	11360	1319	46	4	44	4	OSGIN1	16	83983096	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2271175	83983096	6371657	359	23432											
ADAD2	161931	broad.mit.edu	37	chr16	84229196	84229196	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagggcaaggagcagtcCgtgctggccccccagccagg	8	3	14	16	1	0	0	0	0	0	0	1	1	1	1	6	4	3	3	6	4	2	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:84229196C>T	ENST00000268624.3	+	7	1284	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Silent_p.S315S|RP11-486L19.2_ENST00000569834.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	315	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGGAGCAGTCCGTGCTGGCCC	0.677													9	40					0	0	0	0	T	84229196	C	T	84229196	2	4	121	1	0	0	0	0	0	0	0	1	232	639	23	1		1	ADAD2	16	84229196	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	246100	84229196	6125557	360	23433											
CDT1	81620	broad.mit.edu	37	chr16	88874608	88874608	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccgcaccgacacctacgtCaagctggacaaggccgcgga	11	4	11	15	5	1	0	1	0	0	0	2	3	2	2	4	3	2	2	4	3	3	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:88874608C>G	ENST00000301019.4	+	10	2182	c.1563C>G	c.(1561-1563)gtC>gtG	p.V521V		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	521					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		ACACCTACGTCAAGCTGGACA	0.672													8	16					0	0	0	0	G	88874608	C	G	88874608	2	3	121	1	0	0	0	0	0	0	0	1	3209	813	29	2		2	CDT1	16	88874608	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	4645412	88874608	1480145	361	23434											
ZBTB4	57659	broad.mit.edu	37	chr17	7370046	7370046	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgtcacagaagaggccacgGagccgctgttcattgagctg	10	7	13	11	3	2	3	2	1	0	2	2	4	2	4	2	2	2	3	2	2	1	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:7370046G>T	ENST00000311403.4	-	3	414	c.75C>A	c.(73-75)ctC>ctA	p.L25L	ZBTB4_ENST00000380599.4_Silent_p.L25L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGAGGCCACGGAGCCGCTGTT	0.647													8	1					5.18039e-06	5.81562e-06	1	0	T	7370046	G	T	7370046	2	4	121	1	0	0	0	0	0	0	0	1	17636	1161	41	2		2	ZBTB4	17	7370046	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08		7370046	73825164	362	23435											
TP53	7157	broad.mit.edu	37	chr17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctccctgggggcagctCgtggtgaggctcccctttct	3	11	14	13	1	1	1	0	1	1	0	4	1	3	1	3	4	2	4	3	4	0	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGGGCAGCTCGTGGTGAGGC	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			29	14					8.88839e-20	1.2291e-19	1	0	A	7577046	C	A	7577046	4	1	121	1	0	0	0	0	0	1	0	0	16476	893	31	3	394	3	TP53	17	7577046	Nonsense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	207000	7577046	73618164	363	23436											
MYH8	4626	broad.mit.edu	37	chr17	10304678	10304678	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtcatccagggtctGctggtgggtctcttggagag	5	11	16	9	0	3	1	1	0	2	1	5	2	4	1	1	5	2	2	1	5	0	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:10304678G>C	ENST00000403437.2	-	24	3116	c.3022C>G	c.(3022-3024)Cag>Gag	p.Q1008E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1008					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCAGGGTCTGCTGGTGGGTC	0.468									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				62	59					0	0	0	0	C	10304678	G	C	10304678	3	2	121	1	0	0	0	0	1	0	0	0	10111	1328	46	4	2859	4	MYH8	17	10304678	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2727632	10304678	70890532	364	23437											
MYH1	4619	broad.mit.edu	37	chr17	10404461	10404461	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtctccatgttactagcaAggtcatcgatctccatcttc	9	13	6	13	1	4	0	1	0	3	0	8	1	4	0	2	1	2	2	2	1	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:10404461A>G	ENST00000226207.5	-	27	3798	c.3704T>C	c.(3703-3705)cTt>cCt	p.L1235P	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1235						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTACTAGCAAGGTCATCGAT	0.438													16	66					0	0	0	0	G	10404461	A	G	10404461	3	3	121	1	0	0	0	0	1	0	0	0	10099	72	3	5	2171	5	MYH1	17	10404461	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	99783	10404461	70790749	365	23438											
DNAH9	1770	broad.mit.edu	37	chr17	11684444	11684444	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggatgcctacgggacGgtgcagccccacaccatcat	9	6	13	13	2	1	0	1	0	0	0	1	3	1	2	4	4	4	1	4	4	1	1	rs143485595		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:11684444G>A	ENST00000262442.3	+	39	7739	c.7671G>A	c.(7669-7671)acG>acA	p.T2557T	DNAH9_ENST00000454412.2_Silent_p.T2557T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2557	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTACGGGACGGTGCAGCCCC	0.552													8	22					0	0	0	0	A	11684444	G	A	11684444	2	1	121	1	0	0	0	0	0	0	0	1	4644	1103	39	1		1	DNAH9	17	11684444	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1279983	11684444	69510766	366	23439											
ALDOC	230	broad.mit.edu	37	chr17	26902194	26902194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcggacgaagggaacacCattatcatctttctggtaga	11	11	11	8	2	3	1	1	0	2	1	4	4	3	3	1	4	1	2	1	4	4	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:26902194C>T	ENST00000226253.4	-	3	746	c.271G>A	c.(271-273)Ggt>Agt	p.G91S	ALDOC_ENST00000395321.2_Missense_Mutation_p.G91S|ALDOC_ENST00000395319.3_Missense_Mutation_p.G91S	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	91					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AAGGGAACACCATTATCATCT	0.522											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	36					0	0	0	0	T	26902194	C	T	26902194	3	4	121	1	0	0	0	0	1	0	0	0	509	594	21	4	851	4	ALDOC	17	26902194	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	15217750	26902194	54293016	367	23440											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29844670	29844670	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgctctctctttcccaggGcagcgaggtcacaggcccca	6	9	10	16	1	4	0	1	0	3	0	6	1	5	0	3	3	2	2	3	3	0	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:29844670G>T	ENST00000325874.8	+	4	567	c.336_splice	c.e4-1	p.G113_splice	RAB11FIP4_ENST00000394744.2_Splice_Site_p.G11_splice	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	113	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CTTTCCCAGGGCAGCGAGGTC	0.597													3	9					0.00909568	0.00954507	1	0	T	29844670	G	T	29844670	5	4	121	1	0	0	0	0	0	0	1	0	12978	1217	42	4	352	4	RAB11FIP4	17	29844670	Splice_Site	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2942476	29844670	51350540	368	23441											
LRRC37B	114659	broad.mit.edu	37	chr17	30358468	30358468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcacggaatgcagttttTacacaacttgtaagtgaaat	13	12	9	7	1	0	1	0	1	0	0	0	2	0	2	0	2	3	4	0	2	5	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:30358468T>C	ENST00000327564.7	+	5	2109	c.2048T>C	c.(2047-2049)tTa>tCa	p.L683S	LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000543378.2_Missense_Mutation_p.L574S|LRRC37B_ENST00000341671.7_Missense_Mutation_p.L656S			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	656						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATGCAGTTTTTACACAACTTG	0.348													14	22					0	0	0	0	C	30358468	T	C	30358468	3	2	121	1	0	0	0	0	1	0	0	0	9058	1764	61	5	1985	5	LRRC37B	17	30358468	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	513798	30358468	50836742	369	23442											
HNF1B	6928	broad.mit.edu	37	chr17	36091623	36091623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagaggagctgggctggtgGtggggggagccgtgggagag	6	5	26	4	1	0	2	0	0	0	2	0	6	0	4	1	9	2	2	1	9	0	0	rs150268130		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:36091623G>T	ENST00000225893.4	-	4	1369	c.1008C>A	c.(1006-1008)caC>caA	p.H336Q	HNF1B_ENST00000560016.1_Missense_Mutation_p.H336Q|HNF1B_ENST00000427275.2_Missense_Mutation_p.H310Q|HNF1B_ENST00000561193.1_Missense_Mutation_p.H310Q	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	336					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGGGCTGGTGGTGGGGGGAGC	0.602													7	14					8.12818e-05	8.93595e-05	1	0	T	36091623	G	T	36091623	3	4	121	1	0	0	0	0	1	0	0	0	7302	1252	44	4	689	4	HNF1B	17	36091623	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	5733155	36091623	45103587	370	23443											
IKZF3	22806	broad.mit.edu	37	chr17	37922660	37922660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgttattgatggcttggtCcatcatgcgggtctgtatga	6	14	14	7	2	2	2	1	2	1	0	3	2	3	2	1	4	1	3	1	4	2	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:37922660C>A	ENST00000346872.3	-	8	974	c.913G>T	c.(913-915)Gac>Tac	p.D305Y	IKZF3_ENST00000535189.1_Missense_Mutation_p.D271Y|IKZF3_ENST00000467757.1_Missense_Mutation_p.D249Y|IKZF3_ENST00000439016.2_Missense_Mutation_p.D210Y|IKZF3_ENST00000394189.2_Missense_Mutation_p.D123Y|IKZF3_ENST00000377945.3_Missense_Mutation_p.D171Y|IKZF3_ENST00000350532.3_Missense_Mutation_p.D266Y|IKZF3_ENST00000377952.2_Missense_Mutation_p.D84Y|IKZF3_ENST00000377958.2_Missense_Mutation_p.D218Y|IKZF3_ENST00000351680.3_Missense_Mutation_p.D266Y|IKZF3_ENST00000583368.1_Missense_Mutation_p.D58Y|IKZF3_ENST00000346243.3_Missense_Mutation_p.D227Y|IKZF3_ENST00000439167.2_Missense_Mutation_p.D232Y|IKZF3_ENST00000377944.3_Missense_Mutation_p.D162Y	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	305					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATGGCTTGGTCCATCATGCGG	0.517													32	40					3.03874e-20	4.22401e-20	1	0	A	37922660	C	A	37922660	3	1	121	1	0	0	0	0	1	0	0	0	7669	855	30	2	620	2	IKZF3	17	37922660	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	1831037	37922660	43272550	371	23444											
TUBG1	7283	broad.mit.edu	37	chr17	40767015	40767015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatcgatgagtaccatgcgGccacacggccagactacatc	11	7	9	14	3	1	2	1	1	0	1	3	3	1	2	3	2	3	1	3	2	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:40767015G>A	ENST00000251413.3	+	11	1374	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	438					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GTACCATGCGGCCACACGGCC	0.582													22	56					0	0	0	0	A	40767015	G	A	40767015	3	1	121	1	0	0	0	0	1	0	0	0	16860	1203	42	4	1354	4	TUBG1	17	40767015	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2844355	40767015	40428195	372	23445											
DHX8	1659	broad.mit.edu	37	chr17	41582089	41582089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgagtggaagaagcatGcctttgggggcaacaaagcc	11	8	13	9	0	0	2	0	1	0	1	1	3	1	3	3	3	4	2	3	3	4	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:41582089G>T	ENST00000262415.3	+	12	1696	c.1624G>T	c.(1624-1626)Gcc>Tcc	p.A542S	DHX8_ENST00000540306.1_Missense_Mutation_p.A542S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	542						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GAAGAAGCATGCCTTTGGGGG	0.493													63	113					5.82218e-30	8.44693e-30	1	0	T	41582089	G	T	41582089	3	4	121	1	0	0	0	0	1	0	0	0	4552	1319	46	4	1670	4	DHX8	17	41582089	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	815074	41582089	39613121	373	23446											
HEXIM1	10614	broad.mit.edu	37	chr17	43227434	43227434	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctcatcaaggagtacctgGaactggagaagtgcctctcg	11	8	12	10	1	3	1	2	0	1	1	4	4	3	3	2	3	4	2	2	3	4	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:43227434G>T	ENST00000332499.2	+	1	2751	c.877G>T	c.(877-879)Gaa>Taa	p.E293*		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	293	Mediates interaction with CCNT1.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGAGTACCTGGAACTGGAGAA	0.627													31	50					3.57733e-08	4.24009e-08	1	0	T	43227434	G	T	43227434	4	4	121	1	0	0	0	0	0	1	0	0	7126	1175	41	2	879	2	HEXIM1	17	43227434	Nonsense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1645345	43227434	37967776	374	23447											
COL1A1	1277	broad.mit.edu	37	chr17	48264870	48264870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaccagcaggaccagaggctCcagagggaccttgttcacca	11	5	12	13	0	1	2	1	0	0	2	2	5	2	4	5	3	1	3	5	3	0	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:48264870C>T	ENST00000225964.5	-	46	3516	c.3398G>A	c.(3397-3399)gGa>gAa	p.G1133E		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1133	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCAGAGGCTCCAGAGGGACC	0.602			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						13	13					0	0	0	0	T	48264870	C	T	48264870	3	4	121	1	0	0	0	0	1	0	0	0	3707	855	30	2	1020	2	COL1A1	17	48264870	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	5037436	48264870	32930340	375	23448											
EFCAB3	146779	broad.mit.edu	37	chr17	60493471	60493471	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatttgattgggatggactcTagaaatgagtccttttatga	11	15	11	4	0	1	4	0	3	1	1	2	7	2	6	1	2	0	0	1	2	3	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:60493471T>C	ENST00000450662.2	+	12	1325	c.1254T>C	c.(1252-1254)tcT>tcC	p.S418S	EFCAB3_ENST00000305286.3_Silent_p.S366S	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	366							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GGATGGACTCTAGAAATGAGT	0.403													28	39					0	0	0	0	C	60493471	T	C	60493471	2	2	121	1	0	0	0	0	0	0	0	1	4971	1509	53	5		5	EFCAB3	17	60493471	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	12228601	60493471	20701739	376	23449											
GH2	2689	broad.mit.edu	37	chr17	61958001	61958001	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcctggaggattcacgaggGgaaatgaagaatacggtgag	13	6	17	5	2	1	3	1	2	0	1	1	7	1	6	1	6	1	0	1	6	4	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:61958001G>C	ENST00000332800.7	-	4	720	c.587C>G	c.(586-588)cCc>cGc	p.P196R	GH2_ENST00000456543.2_Intron|GH2_ENST00000423893.2_Intron|GH2_ENST00000449787.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						ATTCACGAGGGGAAATGAAGA	0.567													84	59					0	0	0	0	C	61958001	G	C	61958001	3	2	121	1	0	0	0	0	1	0	0	0	6419	1232	43	4	411	4	GH2	17	61958001	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1464530	61958001	19237209	377	23450											
GH1	2688	broad.mit.edu	37	chr17	61995813	61995813	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggaaggcactgccctcttGaagccagggcaggcagagca	10	5	15	11	0	1	2	0	1	1	1	1	3	1	3	2	4	3	4	2	4	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:61995813G>C	ENST00000323322.5	-	2	106	c.64C>G	c.(64-66)Caa>Gaa	p.Q22E	GH1_ENST00000342364.4_Missense_Mutation_p.Q22E|GH1_ENST00000351388.4_Missense_Mutation_p.Q22E|GH1_ENST00000458650.2_Missense_Mutation_p.Q22E|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	22					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CTGCCCTCTTGAAGCCAGGGC	0.612													6	188					0	0	0	0	C	61995813	G	C	61995813	3	2	121	1	0	0	0	0	1	0	0	0	6418	1299	45	2	605	2	GH1	17	61995813	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	37812	61995813	19199397	378	23451											
SCN4A	6329	broad.mit.edu	37	chr17	62028832	62028832	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtttcctcctcggtgggCatctccaggtcggactcctc	3	12	11	15	3	1	0	0	0	1	0	9	1	4	1	4	5	0	2	4	5	0	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:62028832C>G	ENST00000435607.1	-	14	2881	c.2805G>C	c.(2803-2805)atG>atC	p.M935I	SCN4A_ENST00000578147.1_Missense_Mutation_p.M935I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	935					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCTCGGTGGGCATCTCCAGGT	0.602													22	22					0	0	0	0	G	62028832	C	G	62028832	3	3	121	1	0	0	0	0	1	0	0	0	14007	710	25	4	2749	4	SCN4A	17	62028832	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	33019	62028832	19166378	379	23452											
ABCA5	23461	broad.mit.edu	37	chr17	67256516	67256516	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagcctatcccatggattaTaggtgtccacattttttcgt	10	15	7	9	1	0	0	0	0	0	0	3	1	2	1	3	2	1	0	3	2	4	6	rs141602707		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:67256516T>A	ENST00000392676.3	-	27	3666	c.3602A>T	c.(3601-3603)tAt>tTt	p.Y1201F	ABCA5_ENST00000588877.1_Missense_Mutation_p.Y1201F|ABCA5_ENST00000392677.2_Missense_Mutation_p.Y1202F			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1201					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCATGGATTATAGGTGTCCAC	0.313													14	10					0	0	0	0	A	67256516	T	A	67256516	3	1	121	1	0	0	0	0	1	0	0	0	35	1406	49	5	1378	5	ABCA5	17	67256516	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	5227684	67256516	13938694	380	23453											
KIF19	124602	broad.mit.edu	37	chr17	72345427	72345427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagcgcaagattgatgaGcagactgggcggggccaggc	10	5	16	10	2	1	4	1	2	0	2	1	4	1	4	1	4	2	2	1	4	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:72345427G>T	ENST00000389916.4	+	10	1290	c.1152G>T	c.(1150-1152)gaG>gaT	p.E384D		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	384					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGATTGATGAGCAGACTGGGC	0.652													18	21					1.01871e-10	1.27881e-10	1	0	T	72345427	G	T	72345427	3	4	121	1	0	0	0	0	1	0	0	0	8333	962	34	4	1190	4	KIF19	17	72345427	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	5088911	72345427	8849783	381	23454											
BAIAP2	10458	broad.mit.edu	37	chr17	79080653	79080653	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggccttccccgcccagacGgccagcggcttcaagcagag	7	4	13	17	4	1	2	1	0	0	2	2	2	2	2	5	3	2	2	5	3	1	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:79080653G>T	ENST00000321300.6	+	12	1539	c.1446G>T	c.(1444-1446)acG>acT	p.T482T	BAIAP2_ENST00000416299.2_Silent_p.T345T|BAIAP2_ENST00000428708.2_Silent_p.T482T|BAIAP2_ENST00000392411.3_Silent_p.T404T|BAIAP2_ENST00000575712.1_Silent_p.T482T|BAIAP2_ENST00000575245.1_Silent_p.T515T|BAIAP2_ENST00000321280.7_Silent_p.T482T|BAIAP2_ENST00000435091.3_Silent_p.T482T	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	482					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCGCCCAGACGGCCAGCGGCT	0.716													6	21					3.59834e-05	4.00569e-05	1	0	T	79080653	G	T	79080653	2	4	121	1	0	0	0	0	0	0	0	1	1305	1103	39	3		3	BAIAP2	17	79080653	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	6735226	79080653	2114557	382	23455											
HEXDC	284004	broad.mit.edu	37	chr17	80398881	80398881	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtgatttcaggaggatttGatgaagatgttaaagcgaaa	14	13	12	2	1	1	4	1	3	0	1	1	7	1	6	0	2	1	1	0	2	4	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:80398881G>C	ENST00000337014.6	+	10	1465	c.991G>C	c.(991-993)Gat>Cat	p.D331H	HEXDC_ENST00000327949.9_Missense_Mutation_p.D331H|HEXDC_ENST00000577944.1_Missense_Mutation_p.D331H	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	331					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGGAGGATTTGATGAAGATGT	0.572													123	130					0	0	0	0	C	80398881	G	C	80398881	3	2	121	1	0	0	0	0	1	0	0	0	7125	1290	45	2	1025	2	HEXDC	17	80398881	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1318228	80398881	796329	383	23456											
TXNDC2	84203	broad.mit.edu	37	chr18	9887311	9887311	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcagtgaagcccagccagCccaaggagggtgacatctcc	10	5	11	15	0	2	2	1	2	1	0	3	3	2	3	5	2	3	0	5	2	2	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr18:9887311C>A	ENST00000306084.6	+	2	1034	c.835C>A	c.(835-837)Ccc>Acc	p.P279T	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.P212T	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	279	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCCCAGCCAGCCCAAGGAGGG	0.602													44	146					3.4587e-08	4.10866e-08	1	0	A	9887311	C	A	9887311	3	1	121	1	0	0	0	0	1	0	0	0	16893	739	26	4	841	4	TXNDC2	18	9887311	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08		9887311	68189937	384	23457											
GNAL	2774	broad.mit.edu	37	chr18	11872270	11872270	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatttttccttttttaggtgGttacggaccatttctatcat	7	21	6	7	1	2	0	1	0	1	0	3	1	3	1	2	3	1	1	2	3	4	9			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr18:11872270G>A	ENST00000334049.6	+	10	1643	c.1035G>A	c.(1033-1035)tgG>tgA	p.W345*	GNAL_ENST00000535121.1_Nonsense_Mutation_p.W268*|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000423027.3_Nonsense_Mutation_p.W268*|GNAL_ENST00000269162.5_Nonsense_Mutation_p.W268*|GNAL_ENST00000602628.1_Nonsense_Mutation_p.W61*	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	268					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TTTTTAGGTGGTTACGGACCA	0.333													19	78					0	0	0	0	A	11872270	G	A	11872270	4	1	121	1	0	0	0	0	0	1	0	0	6558	1270	44	4	1222	4	GNAL	18	11872270	Nonsense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1984959	11872270	66204978	385	23458											
ELAC1	55520	broad.mit.edu	37	chr18	48510764	48510764	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcctcccaaagaggaacaAggaagaactatcctgttaga	16	7	9	9	0	0	3	0	0	0	3	3	5	3	5	3	2	2	1	3	2	7	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr18:48510764A>T	ENST00000269466.3	+	3	563	c.456A>T	c.(454-456)caA>caT	p.Q152H	ELAC1_ENST00000591429.1_Missense_Mutation_p.Q152H|SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000588577.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	152					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		AAGAGGAACAAGGAAGAACTA	0.403													17	11					0	0	0	0	T	48510764	A	T	48510764	3	4	121	1	0	0	0	0	1	0	0	0	5084	69	3	5	462	5	ELAC1	18	48510764	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	36638494	48510764	29566484	386	23459											
PRR22	163154	broad.mit.edu	37	chr19	5783178	5783178	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcggctgctcctcgtcgagCgccttgaagttgaagaagta	8	9	14	10	4	0	3	0	2	0	1	3	4	1	3	2	2	2	4	2	2	4	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:5783178C>G	ENST00000419421.2	-	3	1184	c.1080G>C	c.(1078-1080)gcG>gcC	p.A360A		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	358										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CCTCGTCGAGCGCCTTGAAGT	0.632													31	42					0	0	0	0	G	5783178	C	G	5783178	2	3	121	1	0	0	0	0	0	0	0	1	12673	755	27	3		3	PRR22	19	5783178	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08		5783178	53345805	387	23460											
PRAM1	84106	broad.mit.edu	37	chr19	8563374	8563374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggggcagaggcctccgccGgggtggatggctgggtctga	5	6	21	9	2	1	2	0	1	1	1	2	3	2	3	3	8	0	2	3	8	0	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:8563374G>A	ENST00000423345.4	-	2	1838	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	PRAM1_ENST00000255612.3_Missense_Mutation_p.R440W			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	488	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGCCTCCGCCGGGGTGGATGG	0.716													10	13					0	0	0	0	A	8563374	G	A	8563374	3	1	121	1	0	0	0	0	1	0	0	0	12499	1115	39	1	727	1	PRAM1	19	8563374	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2780196	8563374	50565609	388	23461											
ZNF846	162993	broad.mit.edu	37	chr19	9868423	9868423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggccttttctccagtgtGagttcttaaatgggtactaa	10	14	9	8	0	2	1	0	1	2	0	3	1	2	1	2	2	1	2	2	2	4	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:9868423G>A	ENST00000397902.2	-	6	1743	c.1330C>T	c.(1330-1332)Cac>Tac	p.H444Y	ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H444D(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCTCCAGTGTGAGTTCTTAAA	0.438													19	24					0	0	0	0	A	9868423	G	A	9868423	3	1	121	1	0	0	0	0	1	0	0	0	18285	1290	45	2	275	2	ZNF846	19	9868423	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1305049	9868423	49260560	389	23462											
CC2D1A	54862	broad.mit.edu	37	chr19	14024105	14024105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatgcggcgctacgatcGggggcttaaagtaagtgggc	10	7	16	8	4	0	1	0	0	0	1	1	2	0	1	0	4	2	3	0	4	5	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:14024105G>T	ENST00000318003.7	+	5	744	c.503G>T	c.(502-504)cGg>cTg	p.R168L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R168L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	168					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGCTACGATCGGGGGCTTAAA	0.607													7	21					1.06961e-07	1.25656e-07	1	0	T	14024105	G	T	14024105	3	4	121	1	0	0	0	0	1	0	0	0	2751	1116	39	3	521	3	CC2D1A	19	14024105	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	4155682	14024105	45104878	390	23463											
OR7A5	26659	broad.mit.edu	37	chr19	14938347	14938347	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcacaggtggaaaatgccTtgtacttcccctgagctgat	10	11	10	10	0	0	2	0	2	0	0	1	3	1	3	3	2	4	3	3	2	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:14938347T>G	ENST00000322301.3	-	2	794	c.707A>C	c.(706-708)aAg>aCg	p.K236T	OR7A5_ENST00000594432.1_Missense_Mutation_p.K236T|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GGAAAATGCCTTGTACTTCCC	0.488													37	50					0	0	0	0	G	14938347	T	G	14938347	3	3	121	1	0	0	0	0	1	0	0	0	11287	1609	56	5	256	5	OR7A5	19	14938347	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	914242	14938347	44190636	391	23464											
SLC1A6	6511	broad.mit.edu	37	chr19	15072888	15072888	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgaggactctgcccttGtgtttcatgccaccaatgac	7	12	8	14	0	2	2	1	2	1	0	3	3	3	3	4	1	2	1	4	1	1	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:15072888G>A	ENST00000598504.1	-	8	2220	c.861C>T	c.(859-861)caC>caT	p.H287H	SLC1A6_ENST00000430939.2_Silent_p.H223H|SLC1A6_ENST00000221742.3_Silent_p.H287H|SLC1A6_ENST00000544886.2_Silent_p.H287H|SLC1A6_ENST00000600144.1_Silent_p.H287H	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	287					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CTCTGCCCTTGTGTTTCATGC	0.577													34	62					0	0	0	0	A	15072888	G	A	15072888	2	1	121	1	0	0	0	0	0	0	0	1	14524	1368	48	4		4	SLC1A6	19	15072888	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	134541	15072888	44056095	392	23465											
NOTCH3	4854	broad.mit.edu	37	chr19	15295220	15295220	+	Missense_Mutation	SNP	C	C	A																															accatgagggccacagggtgCggggccagcacactcgtcca																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:15295220C>A	ENST00000263388.2	-	16	2527	c.2452G>T	c.(2452-2454)Gca>Tca	p.A818S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	818	EGF-like 21; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.A818S(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCACAGGGTGCGGGGCCAGCA	0.612													16	40					3.99206e-14	5.23403e-14	1	0	A	15295220	C	A	15295220	3	1	121	1	0	0	0	0	1	0	0	0	10620	768	27	3	4585	3	NOTCH3	19	15295220	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	222332	15295220	43833763	393	23466	194	2									
NOTCH3	4854	broad.mit.edu	37	chr19	15295221	15295221	+	Silent	SNP	G	G	A																															ccatgagggccacagggtgcGgggccagcacactcgtccac																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:15295221G>A	ENST00000263388.2	-	16	2526	c.2451C>T	c.(2449-2451)ccC>ccT	p.P817P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	817	EGF-like 21; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACAGGGTGCGGGGCCAGCAC	0.612													16	40					0	0	0	0	A	15295221	G	A	15295221	2	1	121	1	0	0	0	0	0	0	0	1	10620	1103	39	1		1	NOTCH3	19	15295221	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1	15295221	43833762	394	23467	194	2									
ANKLE1	126549	broad.mit.edu	37	chr19	17394588	17394588	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccacgctctggctgacagagGatgaggcaagctctacaggt	10	7	13	11	1	2	3	0	2	2	1	2	4	2	4	1	4	2	4	1	4	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:17394588G>C	ENST00000394458.3	+	5	1291	c.1015G>C	c.(1015-1017)Gat>Cat	p.D339H	ANKLE1_ENST00000598347.1_Missense_Mutation_p.D339H|ANKLE1_ENST00000594072.1_Missense_Mutation_p.D328H|ANKLE1_ENST00000404085.1_Missense_Mutation_p.D361H|ANKLE1_ENST00000433424.2_Missense_Mutation_p.D393H	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	339						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCTGACAGAGGATGAGGCAAG	0.612													29	48					0	0	0	0	C	17394588	G	C	17394588	3	2	121	1	0	0	0	0	1	0	0	0	632	1174	41	2	1033	2	ANKLE1	19	17394588	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2099367	17394588	41734395	395	23468											
IFI30	10437	broad.mit.edu	37	chr19	18286135	18286135	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggaacaaaatgtcagTggcaggtgggagttcaagtg	12	9	15	5	0	2	0	2	0	0	0	2	2	2	2	0	4	2	3	0	4	4	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:18286135T>C	ENST00000407280.2	+	3	398	c.330T>C	c.(328-330)agT>agC	p.S110S	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	110					antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						AAAATGTCAGTGGCAGGTGGG	0.622													4	6					0	0	0	0	C	18286135	T	C	18286135	2	2	121	1	0	0	0	0	0	0	0	1	7568	1693	59	5		5	IFI30	19	18286135	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	891547	18286135	40842848	396	23469											
ZNF93	81931	broad.mit.edu	37	chr19	20045066	20045066	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatgtggcaaagccttTgttgcatcctcaacccttag	11	11	9	10	0	1	1	1	0	0	1	2	2	2	1	3	1	3	3	3	1	5	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:20045066T>A	ENST00000343769.5	+	4	1330	c.1302T>A	c.(1300-1302)ttT>ttA	p.F434L	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	434						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GCAAAGCCTTTGTTGCATCCT	0.413													32	45					0	0	0	0	A	20045066	T	A	20045066	3	1	121	1	0	0	0	0	1	0	0	0	18295	1809	63	5	1316	5	ZNF93	19	20045066	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	1758931	20045066	39083917	397	23470											
ZNF100	163227	broad.mit.edu	37	chr19	21910214	21910214	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgtagtaaggtgtgaagaCcggttaaaagctttcccaca	12	11	11	7	1	0	2	0	1	0	1	1	2	1	2	2	2	1	4	2	2	5	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:21910214C>T	ENST00000358296.6	-	5	1098	c.900G>A	c.(898-900)cgG>cgA	p.R300R	ZNF100_ENST00000305570.6_Silent_p.R236R	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GGTGTGAAGACCGGTTAAAAG	0.398													33	44					0	0	0	0	T	21910214	C	T	21910214	2	4	121	1	0	0	0	0	0	0	0	1	17808	494	18	4		4	ZNF100	19	21910214	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	1865148	21910214	37218769	398	23471											
ZNF675	171392	broad.mit.edu	37	chr19	23836307	23836307	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacttgtagggtatctcTccagaatgaattttcttatg	10	16	7	8	0	3	2	1	1	2	1	5	2	4	2	1	1	0	2	1	1	5	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:23836307T>A	ENST00000359788.4	-	4	1596	c.1428A>T	c.(1426-1428)ggA>ggT	p.G476G	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	476					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGGGTATCTCTCCAGAATGAA	0.363													14	26					0	0	0	0	A	23836307	T	A	23836307	2	1	121	1	0	0	0	0	0	0	0	1	18177	1538	54	5		5	ZNF675	19	23836307	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	1926093	23836307	35292676	399	23472											
GPI	2821	broad.mit.edu	37	chr19	34859488	34859488	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcctgaccgtaatccccagGgtcgagccgtgctgcacgtg	7	8	12	14	4	0	1	0	1	0	0	3	2	2	1	5	1	3	3	5	1	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:34859488G>T	ENST00000415930.3	+	5	570	c.399_splice	c.e5-1	p.G134_splice	GPI_ENST00000356487.5_Splice_Site_p.G95_splice|GPI_ENST00000586425.1_Splice_Site_p.G95_splice	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	95					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TAATCCCCAGGGTCGAGCCGT	0.597													21	25					7.87624e-14	1.03012e-13	1	0	T	34859488	G	T	34859488	5	4	121	1	0	0	0	0	0	0	1	0	6660	1246	43	4	418	4	GPI	19	34859488	Splice_Site	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	11023181	34859488	24269495	400	23473											
KCNK6	9424	broad.mit.edu	37	chr19	38810813	38810813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggccggacggctggggcggGtcgtgcttgctaacgcttcg	3	8	18	12	7	0	0	0	0	0	0	2	1	0	1	1	6	3	4	1	6	1	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:38810813G>T	ENST00000263372.3	+	1	330	c.223G>T	c.(223-225)Gtc>Ttc	p.V75F		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	75						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GCTGGGGCGGGTCGTGCTTGC	0.716													9	18					1.12685e-05	1.25705e-05	1	0	T	38810813	G	T	38810813	3	4	121	1	0	0	0	0	1	0	0	0	8123	1261	44	4	225	4	KCNK6	19	38810813	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	3951325	38810813	20318170	401	23474											
MEGF8	1954	broad.mit.edu	37	chr19	42862415	42862415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctctactccctgcactgtCctgaccgcacctggagtctg	6	10	9	16	1	2	1	0	1	2	0	4	2	4	2	4	1	3	3	4	1	1	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:42862415C>T	ENST00000334370.4	+	28	5565	c.4930C>T	c.(4930-4932)Cct>Tct	p.P1644S	MEGF8_ENST00000251268.6_Missense_Mutation_p.P1711S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1711						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTGCACTGTCCTGACCGCAC	0.627													4	7					0	0	0	0	T	42862415	C	T	42862415	3	4	121	1	0	0	0	0	1	0	0	0	9532	855	30	2	5040	2	MEGF8	19	42862415	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	4051602	42862415	16266568	402	23475											
PSG8	440533	broad.mit.edu	37	chr19	43262387	43262387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagcctccatggcctccCtggggtttaatttgctgctg	5	13	10	13	0	1	0	1	0	0	0	3	0	3	0	4	3	3	3	4	3	1	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:43262387C>A	ENST00000404209.4	-	3	572	c.476G>T	c.(475-477)aGg>aTg	p.R159M	PSG8_ENST00000406636.3_Missense_Mutation_p.R37M|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.R159M	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	159	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CATGGCCTCCCTGGGGTTTAA	0.537													97	132					1.39521e-32	2.04092e-32	1	0	A	43262387	C	A	43262387	3	1	121	1	0	0	0	0	1	0	0	0	12740	681	24	4	837	4	PSG8	19	43262387	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	399972	43262387	15866596	403	23476											
PSG7	5676	broad.mit.edu	37	chr19	43430101	43430101	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgccggtgggttagagtccGcaaagcaggacaagtagagg	11	6	17	7	2	0	2	0	0	0	2	1	3	1	3	2	4	2	4	2	4	4	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:43430101G>A	ENST00000406070.2	-	0	1163				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GTTAGAGTCCGCAAAGCAGGA	0.448													88	143					0	0	0	0	A	43430101	G	A	43430101	1	1	121	0	1	0	0	0	0	0	0	0	12739	1087	38	1		1	PSG7	19	43430101	RNA	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	167714	43430101	15698882	404	23477											
IRF2BP1	26145	broad.mit.edu	37	chr19	46388991	46388991	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcttgggcaggtcgcaCaggtagcaccactggcggcg	7	6	16	12	3	1	0	0	0	1	0	2	0	1	0	1	6	1	5	1	6	1	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:46388991C>A	ENST00000302165.3	-	1	385	c.42G>T	c.(40-42)ctG>ctT	p.L14L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GCAGGTCGCACAGGTAGCACC	0.716													3	22					1	1	1	0	A	46388991	C	A	46388991	2	1	121	1	0	0	0	0	0	0	0	1	7882	465	17	4		4	IRF2BP1	19	46388991	Silent	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	2958890	46388991	12739992	405	23478											
PPFIA3	8541	broad.mit.edu	37	chr19	49641518	49641518	+	Frame_Shift_Del	DEL	G	G	-																															ggcagaggagctggagagtcGggtgtccagctctggcttgg																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:49641518delG	ENST00000334186.4	+	16	2259	c.1910delG	c.(1909-1911)cgfs	p.R637fs	PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.R637fs	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	637						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTGGAGAGTCGGGTGTCCAGC	0.642													13	26	---	---	---	---					-	49641518	G	-	49641518	7	5	121	1	0	1	0	1	0	0	0	0	12382	1116	39	0	1968	0	PPFIA3	19	49641518	Frame_Shift_Del	DEL	G	TCGA-CN-A63W-01A-11D-A30E-08	3252527	49641518	9487465	406	23479											
FCGRT	2217	broad.mit.edu	37	chr19	50029346	50029346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggatgctgatttgaaGgatgtaaatgtgattccagc	11	11	12	7	0	0	3	0	3	0	0	1	5	1	5	2	2	2	2	2	2	3	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:50029346G>T	ENST00000221466.5	+	7	1554	c.1068G>T	c.(1066-1068)aaG>aaT	p.K356N	FCGRT_ENST00000599988.1_Missense_Mutation_p.K90N|FCGRT_ENST00000426395.3_Missense_Mutation_p.K356N|FCGRT_ENST00000596975.1_Missense_Mutation_p.K264N	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	356					antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CTGATTTGAAGGATGTAAATG	0.582													52	85					2.01807e-28	2.90405e-28	1	0	T	50029346	G	T	50029346	3	4	121	1	0	0	0	0	1	0	0	0	5831	991	35	4	1090	4	FCGRT	19	50029346	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	387828	50029346	9099637	407	23480											
ZNF613	79898	broad.mit.edu	37	chr19	52448913	52448913	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaacagtgcgttccaagcaGagagcaaagtagccattgtg	13	8	11	9	1	0	1	0	0	0	1	1	2	1	1	2	0	5	4	2	0	4	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:52448913G>C	ENST00000293471.6	+	6	2456	c.1777G>C	c.(1777-1779)Gag>Cag	p.E593Q	ZNF613_ENST00000391794.4_Missense_Mutation_p.E557Q|ZNF613_ENST00000601794.1_Intron	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GTTCCAAGCAGAGAGCAAAGT	0.443													5	41					0	0	0	0	C	52448913	G	C	52448913	3	2	121	1	0	0	0	0	1	0	0	0	18133	943	33	2	1791	2	ZNF613	19	52448913	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2419567	52448913	6680070	408	23481											
ZNF836	162962	broad.mit.edu	37	chr19	52658865	52658865	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attacaattgtaaggtttctCtccagtatgaattatcagat	13	16	6	6	0	2	2	1	1	1	1	4	2	3	2	1	1	1	3	1	1	6	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:52658865C>G	ENST00000322146.8	-	5	2592	c.2071G>C	c.(2071-2073)Gag>Cag	p.E691Q	ZNF836_ENST00000597252.1_Missense_Mutation_p.E691Q|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	691					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TAAGGTTTCTCTCCAGTATGA	0.383													27	34					0	0	0	0	G	52658865	C	G	52658865	3	3	121	1	0	0	0	0	1	0	0	0	18280	922	32	2	741	2	ZNF836	19	52658865	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	209952	52658865	6470118	409	23482											
KIR2DL3	3804	broad.mit.edu	37	chr19	55258838	55258838	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaccaagctccgaaaccgGtgagtacagaaccctcttat	13	8	8	12	2	1	3	0	2	1	1	2	4	2	3	4	1	5	2	4	1	6	2	rs142072295		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:55258838G>T	ENST00000342376.3	+	5	746		c.e5+1		KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TCCGAAACCGGTGAGTACAGA	0.507													23	56					9.9998e-32	1.45876e-31	1	0	T	55258838	G	T	55258838	5	4	121	1	0	0	0	0	0	0	1	0	8369	1275	44	4	734	4	KIR2DL3	19	55258838	Splice_Site	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	2599973	55258838	3870145	410	23483											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704107	56704107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctctgcacaccgttcacCttgactaagacctggagctc	9	9	8	15	1	2	2	1	1	1	1	3	3	2	3	3	1	3	4	3	1	1	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:56704107C>G	ENST00000586855.2	-	2	628	c.315G>C	c.(313-315)aaG>aaC	p.K105N	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.K105N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	105	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CACCGTTCACCTTGACTAAGA	0.552													16	22					0	0	0	0	G	56704107	C	G	56704107	3	3	121	1	0	0	0	0	1	0	0	0	18330	680	24	4	1188	4	ZSCAN5B	19	56704107	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	1445269	56704107	2424876	411	23484											
PROKR2	128674	broad.mit.edu	37	chr20	5294737	5294737	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtcggagatggccaggttGgcaatgagcagattggtgag	11	8	17	5	1	0	4	0	2	0	2	1	5	0	4	1	5	1	3	1	5	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:5294737G>T	ENST00000546004.1	-	2	525	c.279C>A	c.(277-279)gcC>gcA	p.A93A	PROKR2_ENST00000217270.3_Silent_p.A93A			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	93						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGGCCAGGTTGGCAATGAGCA	0.572										HNSCC(71;0.22)			9	37					0.0581538	0.0597285	1	0	T	5294737	G	T	5294737	2	4	121	1	0	0	0	0	0	0	0	1	12633	1335	47	4		4	PROKR2	20	5294737	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08		5294737	57730783	412	23485											
CEP250	11190	broad.mit.edu	37	chr20	34089671	34089671	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcctctcctcttctcaaaGagaaatccaagtgggaagga	12	10	8	11	0	4	1	1	0	4	1	8	4	5	3	3	2	0	0	3	2	4	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:34089671G>C	ENST00000397527.1	+	29	4618		c.e29-1		CEP250_ENST00000342580.4_Splice_Site	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa						centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			tcttctcAAAGAGAAATCCAA	0.478													7	7					0	0	0	0	C	34089671	G	C	34089671	5	2	121	1	0	0	0	0	0	0	1	0	3281	956	33	2	4000	2	CEP250	20	34089671	Splice_Site	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	28794934	34089671	28935849	413	23486											
PTPRT	11122	broad.mit.edu	37	chr20	41306786	41306786	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagctctgggggagcaatGggcgtgggaggctctgtaag	8	7	19	7	1	2	0	0	0	2	0	2	2	2	2	0	5	3	5	0	5	2	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:41306786G>T	ENST00000373198.3	-	7	1108	c.873C>A	c.(871-873)ccC>ccA	p.P291P	PTPRT_ENST00000373184.1_Silent_p.P291P|PTPRT_ENST00000373187.1_Silent_p.P291P|PTPRT_ENST00000373193.3_Silent_p.P291P|PTPRT_ENST00000356100.2_Silent_p.P291P|PTPRT_ENST00000373201.1_Silent_p.P291P|PTPRT_ENST00000373190.1_Silent_p.P291P	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	291	Fibronectin type-III 1.				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)				GGGGAGCAATGGGCGTGGGAG	0.517													10	14					0.0692343	0.0708351	1	0	T	41306786	G	T	41306786	2	4	121	1	0	0	0	0	0	0	0	1	12894	1335	47	4		4	PTPRT	20	41306786	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	7217115	41306786	21718734	414	23487											
CDH22	64405	broad.mit.edu	37	chr20	44841709	44841709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcgccgccgctgctgctCtcgtccttaaggtggtaagt	6	11	11	13	4	1	0	0	0	1	0	4	0	2	0	3	2	2	4	3	2	2	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:44841709C>A	ENST00000372262.3	-	5	1357	c.957G>T	c.(955-957)gaG>gaT	p.E319D	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.E319D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	319	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGCTGCTGCTCTCGTCCTTAA	0.582													17	22					5.01169e-05	5.54419e-05	1	0	A	44841709	C	A	44841709	3	1	121	1	0	0	0	0	1	0	0	0	3136	912	32	2	1557	2	CDH22	20	44841709	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	3534923	44841709	18183811	415	23488											
ZMYND8	23613	broad.mit.edu	37	chr20	45927651	45927651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacagggtctgtggtgagtGgctgcttcatatagtaaaac	11	11	12	7	0	2	1	1	1	1	0	2	1	2	1	0	3	3	3	0	3	5	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:45927651G>A	ENST00000311275.7	-	4	468	c.215C>T	c.(214-216)cCa>cTa	p.P72L	ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P72L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P92L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P92L|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P72L|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P99L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P92L|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000468376.2_Intron			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	72							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TGTGGTGAGTGGCTGCTTCAT	0.453													20	35					0	0	0	0	A	45927651	G	A	45927651	3	1	121	1	0	0	0	0	1	0	0	0	17806	1348	47	4	3371	4	ZMYND8	20	45927651	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1085942	45927651	17097869	416	23489											
NFATC2	4773	broad.mit.edu	37	chr20	50133389	50133389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgccttctgtctcatagtgGgcccggtgatgtggcttggg	3	13	15	10	1	2	1	1	1	2	0	3	1	2	1	2	4	1	1	2	4	1	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:50133389G>A	ENST00000371564.3	-	3	1485	c.1266C>T	c.(1264-1266)gcC>gcT	p.A422A	NFATC2_ENST00000414705.1_Silent_p.A402A|NFATC2_ENST00000396009.3_Silent_p.A422A	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	422	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCTCATAGTGGGCCCGGTGAT	0.587													12	29					0	0	0	0	A	50133389	G	A	50133389	2	1	121	1	0	0	0	0	0	0	0	1	10432	1219	43	4		4	NFATC2	20	50133389	Silent	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	4205738	50133389	12892131	417	23490											
SYCP2	10388	broad.mit.edu	37	chr20	58449032	58449032	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactatttaaggattcaagtGatgaagtttttggataaggt	13	16	10	2	0	1	2	1	2	0	0	1	4	1	4	0	3	1	1	0	3	6	8			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:58449032G>T	ENST00000357552.3	-	35	3659	c.3434C>A	c.(3433-3435)tCa>tAa	p.S1145*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.S1145*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1145					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GGATTCAAGTGATGAAGTTTT	0.328													9	20					0.000442599	0.000479633	1	0	T	58449032	G	T	58449032	4	4	121	1	0	0	0	0	0	1	0	0	15523	1294	45	2	1202	2	SYCP2	20	58449032	Nonsense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	8315643	58449032	4576488	418	23491											
BIRC7	79444	broad.mit.edu	37	chr20	61870933	61870933	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcagagcccccgtccgcagCcgcgtgcgcaccttcctgtc	4	7	11	19	5	0	1	0	0	0	1	3	1	2	1	6	0	4	3	6	0	0	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:61870933C>G	ENST00000217169.3	+	6	1087	c.873C>G	c.(871-873)agC>agG	p.S291R	BIRC7_ENST00000395306.1_Missense_Mutation_p.S186R|BIRC7_ENST00000342412.6_Missense_Mutation_p.S273R	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	291					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CCGTCCGCAGCCGCGTGCGCA	0.731													7	24					0	0	0	0	G	61870933	C	G	61870933	3	3	121	1	0	0	0	0	1	0	0	0	1444	738	26	4	895	4	BIRC7	20	61870933	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	3421901	61870933	1154587	419	23492											
BAGE2	85319	broad.mit.edu	37	chr21	11038825	11038825	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagatgtaagttgttggCatgatgtttccagcagagga	11	12	13	5	0	0	3	0	2	0	2	1	5	1	4	1	2	1	6	1	2	1	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr21:11038825C>T	ENST00000470054.1	-	0	1378									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGTTGTTGGCATGATGTTTC	0.453													16	188					0	0	0	0	T	11038825	C	T	11038825	1	4	121	0	1	0	0	0	0	0	0	0	1296	725	25	4		4	BAGE2	21	11038825	RNA	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08		11038825	37091070	420	23493											
USP25	29761	broad.mit.edu	37	chr21	17236767	17236767	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgagttttgatgaaaggTaatttgaaagtataaaattc	16	16	8	1	0	0	4	0	4	0	0	1	4	0	4	0	1	0	3	0	1	6	8			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr21:17236767T>A	ENST00000285681.2	+	20	2981		c.e20+2		USP25_ENST00000400183.2_Splice_Site|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Splice_Site			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25						protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TGATGAAAGGTAATTTGAAAG	0.294													4	2					0	0	0	0	A	17236767	T	A	17236767	5	1	121	1	0	0	0	0	0	0	1	0	17152	1652	57	5	2592	5	USP25	21	17236767	Splice_Site	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	6197942	17236767	30893128	421	23494											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296890	28296890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctttgaactgtcgaacttTtatgtgggttgccccttcag	6	15	11	9	1	1	1	1	1	0	0	2	2	1	1	2	2	3	2	2	2	3	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr21:28296890T>C	ENST00000284987.5	-	8	2396	c.2275A>G	c.(2275-2277)Aaa>Gaa	p.K759E	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	759	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGTCGAACTTTTATGTGGGTT	0.438													16	53					0	0	0	0	C	28296890	T	C	28296890	3	2	121	1	0	0	0	0	1	0	0	0	269	1850	64	5	521	5	ADAMTS5	21	28296890	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	11060123	28296890	19833005	422	23495											
TIAM1	7074	broad.mit.edu	37	chr21	32508301	32508301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttgcccagcgaggccggcGggttcagccagatcacggta	8	6	14	13	4	2	1	2	0	0	1	2	2	2	1	3	4	3	2	3	4	1	3	rs148086955		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr21:32508301G>A	ENST00000286827.3	-	24	4304	c.3833C>T	c.(3832-3834)cCg>cTg	p.P1278L	TIAM1_ENST00000541036.1_Missense_Mutation_p.P1218L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1278	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGAGGCCGGCGGGTTCAGCCA	0.507													26	8					0	0	0	0	A	32508301	G	A	32508301	3	1	121	1	0	0	0	0	1	0	0	0	15984	1116	39	1	966	1	TIAM1	21	32508301	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	4211411	32508301	15621594	423	23496											
MX1	4599	broad.mit.edu	37	chr21	42813696	42813696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaactgaagacaaggttgtgGacgtggtgcggaacctcgtg	10	8	16	7	3	0	2	0	1	0	1	1	5	0	4	1	4	3	1	1	4	4	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr21:42813696G>T	ENST00000398600.2	+	12	1809	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	MX1_ENST00000455164.2_Missense_Mutation_p.D262Y|AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000398598.3_Missense_Mutation_p.D262Y|MX1_ENST00000288383.6_Missense_Mutation_p.D239Y	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	262					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CAAGGTTGTGGACGTGGTGCG	0.557													16	72					2.32078e-09	2.82646e-09	1	0	T	42813696	G	T	42813696	3	4	121	1	0	0	0	0	1	0	0	0	10067	1174	41	2	806	2	MX1	21	42813696	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	10305395	42813696	5316199	424	23497											
CCT8L2	150160	broad.mit.edu	37	chr22	17073429	17073429	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccagggctgaagggacTgtgctgtccatggcccgcag	7	7	15	12	1	0	1	0	1	0	0	2	2	2	2	3	3	2	4	3	3	1	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:17073429T>A	ENST00000359963.3	-	1	271	c.12A>T	c.(10-12)acA>acT	p.T4T		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	4					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGAAGGGACTGTGCTGTCCA	0.627													19	23					0	0	0	0	A	17073429	T	A	17073429	2	1	121	1	0	0	0	0	0	0	0	1	2990	1567	55	5		5	CCT8L2	22	17073429	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08		17073429	34231137	425	23498											
PRAME	23532	broad.mit.edu	37	chr22	22892241	22892241	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaactgagaggtgaacTgggcgatatactgctcttcc	10	10	13	8	1	1	3	0	3	1	1	2	6	2	4	1	3	4	1	1	3	4	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:22892241T>G	ENST00000543184.1	-	4	1722	c.860A>C	c.(859-861)cAg>cCg	p.Q287P	PRAME_ENST00000424204.2_Missense_Mutation_p.Q271P|PRAME_ENST00000398743.2_Missense_Mutation_p.Q287P|PRAME_ENST00000398741.1_Missense_Mutation_p.Q287P|PRAME_ENST00000405655.3_Missense_Mutation_p.Q287P|PRAME_ENST00000402697.1_Missense_Mutation_p.Q287P|PRAME_ENST00000539862.1_Missense_Mutation_p.Q271P	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	287					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGAGGTGAACTGGGCGATATA	0.522													19	44					0	0	0	0	G	22892241	T	G	22892241	3	3	121	1	0	0	0	0	1	0	0	0	12500	1580	55	5	677	5	PRAME	22	22892241	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	5818812	22892241	28412325	426	23499											
INPP5J	27124	broad.mit.edu	37	chr22	31521996	31521996	+	Splice_Site	SNP	G	G	T																															gaagagcgaccccggcttccGgtgagggggccctctcccaa																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:31521996G>T	ENST00000331075.5	+	2	1320	c.1271_splice	c.e2+1	p.R424_splice	INPP5J_ENST00000412277.2_Splice_Site_p.R357_splice|INPP5J_ENST00000405300.1_Splice_Site_p.R57_splice|INPP5J_ENST00000400294.2_Splice_Site_p.R57_splice|INPP5J_ENST00000404390.3_Intron			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	424						cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCCGGCTTCCGGTGAGGGGGC	0.602													5	8					0.0215528	0.0223526	1	0	T	31521996	G	T	31521996	5	4	121	1	0	0	0	0	0	0	1	0	7812	1131	39	3		3	INPP5J	22	31521996	Splice_Site	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	8629755	31521996	19782570	427	23500	195	2									
INPP5J	27124	broad.mit.edu	37	chr22	31521997	31521997	+	Splice_Site	SNP	G	G	T																															aagagcgaccccggcttccgGtgagggggccctctcccaag																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:31521997G>T	ENST00000331075.5	+	2	1320		c.e2+1		INPP5J_ENST00000412277.2_Splice_Site|INPP5J_ENST00000405300.1_Splice_Site|INPP5J_ENST00000400294.2_Splice_Site|INPP5J_ENST00000404390.3_Intron			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J							cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCGGCTTCCGGTGAGGGGGCC	0.597													4	9					0.014758	0.0153959	1	0	T	31521997	G	T	31521997	5	4	121	1	0	0	0	0	0	0	1	0	7812	1276	44	4		4	INPP5J	22	31521997	Splice_Site	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	1	31521997	19782569	428	23501	195	2									
CSF2RB	1439	broad.mit.edu	37	chr22	37334105	37334105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgggctggccagtggacCccctggagccccaggccctg	4	6	14	17	0	0	0	0	0	0	0	1	2	1	2	7	5	1	1	7	5	0	0			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:37334105C>A	ENST00000262825.5	+	14	2490	c.2273C>A	c.(2272-2274)cCc>cAc	p.P758H	CSF2RB_ENST00000536485.1_Missense_Mutation_p.P699H|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P758H|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P752H	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	752					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCAGTGGACCCCCTGGAGCC	0.627													23	26					6.44725e-10	7.98017e-10	1	0	A	37334105	C	A	37334105	3	1	121	1	0	0	0	0	1	0	0	0	3967	623	22	4	2305	4	CSF2RB	22	37334105	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	5812108	37334105	13970461	429	23502											
EP300	2033	broad.mit.edu	37	chr22	41556727	41556727	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacccttcccagcctcaaacGtaagtaactgcattattttg	11	12	6	12	1	1	0	1	0	0	0	2	1	2	0	3	0	4	3	3	0	4	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:41556727G>T	ENST00000263253.7	+	20	4890		c.e20+1			NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(1)|p.?(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGCCTCAAACGTAAGTAACTG	0.408			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				5	22					0.000602214	0.00064732	1	0	T	41556727	G	T	41556727	5	4	121	1	0	0	0	0	0	0	1	0	5186	1159	40	3	3750	3	EP300	22	41556727	Splice_Site	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	4222622	41556727	9747839	430	23503											
SBF1	6305	broad.mit.edu	37	chr22	50902991	50902991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccctgagggcacggtggtCctcctctcggccttcacagc	4	8	13	16	2	2	1	1	1	1	0	5	1	4	1	4	5	1	1	4	5	0	1			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:50902991C>A	ENST00000380817.2	-	14	1791	c.1608G>T	c.(1606-1608)agG>agT	p.R536S	SBF1_ENST00000390679.3_Missense_Mutation_p.R536S|SBF1_ENST00000348911.6_Missense_Mutation_p.R537S	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	536					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCACGGTGGTCCTCCTCTCGG	0.692													26	47					5.77227e-19	7.87937e-19	1	0	A	50902991	C	A	50902991	3	1	121	1	0	0	0	0	1	0	0	0	13944	854	30	2	4185	2	SBF1	22	50902991	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	9346264	50902991	401575	431	23504											
FANCB	2187	broad.mit.edu	37	chrX	14883255	14883255	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatccttcatctcatagccTagtttaaaactcaaacgcat	13	12	3	13	1	3	0	3	0	1	0	5	0	4	0	3	0	3	2	3	0	5	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:14883255T>A	ENST00000398334.1	-	3	645	c.378A>T	c.(376-378)ctA>ctT	p.L126L	FANCB_ENST00000324138.3_Silent_p.L126L	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	126					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)					TCTCATAGCCTAGTTTAAAAC	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	6					0	0	0	0	A	14883255	T	A	14883255	2	1	121	1	0	0	0	0	0	0	0	1	5708	1509	53	5		5	FANCB	23	14883255	Silent	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08		14883255	140387305	432	23505											
DMD	1756	broad.mit.edu	37	chrX	32429885	32429885	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctgggcttcctgaggcAtttgagctgcgtccaccttg	4	13	12	12	1	0	2	0	2	0	0	2	2	2	2	4	2	3	3	4	2	0	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:32429885A>C	ENST00000357033.4	-	30	4423	c.4217T>G	c.(4216-4218)aTg>aGg	p.M1406R	DMD_ENST00000378677.2_Missense_Mutation_p.M1402R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1406					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCCTGAGGCATTTGAGCTGC	0.403													16	14					0	0	0	0	C	32429885	A	C	32429885	3	2	121	1	0	0	0	0	1	0	0	0	4617	217	8	5	7188	5	DMD	23	32429885	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	17546630	32429885	122840675	433	23506											
DMD	1756	broad.mit.edu	37	chrX	32536238	32536238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgaagttcagttatatCaacatccaacctaagacagc	14	10	7	10	0	2	2	2	1	0	1	3	2	3	2	2	0	3	3	2	0	6	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:32536238C>A	ENST00000357033.4	-	18	2385	c.2179G>T	c.(2179-2181)Gat>Tat	p.D727Y	DMD_ENST00000378677.2_Missense_Mutation_p.D723Y|DMD_ENST00000288447.4_Missense_Mutation_p.D719Y	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	727					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAGTTATATCAACATCCAAC	0.333													13	6					7.93312e-07	9.09824e-07	1	0	A	32536238	C	A	32536238	3	1	121	1	0	0	0	0	1	0	0	0	4617	826	29	2	9369	2	DMD	23	32536238	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	106353	32536238	122734322	434	23507											
CFP	5199	broad.mit.edu	37	chrX	47486251	47486251	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccccatgctggggcacAgggtgattgcacgtccgttg	5	8	16	12	2	0	1	0	1	0	0	1	1	1	1	3	4	2	4	3	4	0	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:47486251A>G	ENST00000247153.3	-	7	1102	c.861T>C	c.(859-861)ccT>ccC	p.P287P	CFP_ENST00000396992.3_Silent_p.P287P|CFP_ENST00000377005.2_Silent_p.P287P	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	287	TSP type-1 4.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GCTGGGGCACAGGGTGATTGC	0.667													9	4					0	0	0	0	G	47486251	A	G	47486251	2	3	121	1	0	0	0	0	0	0	0	1	3322	175	7	5		5	CFP	23	47486251	Silent	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	14950013	47486251	107784309	435	23508											
CLCN5	1184	broad.mit.edu	37	chrX	49855411	49855411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccattgccaccatacaCtccacccactctaaagcttc	10	10	2	19	0	1	0	0	0	1	0	5	0	4	0	6	0	3	1	6	0	3	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:49855411C>G	ENST00000376088.3	+	14	2869	c.2228C>G	c.(2227-2229)aCt>aGt	p.T743S	CLCN5_ENST00000376108.3_Missense_Mutation_p.T673S|CLCN5_ENST00000376091.3_Missense_Mutation_p.T743S|CLCN5_ENST00000307367.2_Missense_Mutation_p.T673S	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	673					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CCACCATACACTCCACCCACT	0.463													11	8					0	0	0	0	G	49855411	C	G	49855411	3	3	121	1	0	0	0	0	1	0	0	0	3496	565	20	4	2274	4	CLCN5	23	49855411	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	2369160	49855411	105415149	436	23509											
CYSLTR1	10800	broad.mit.edu	37	chrX	77529023	77529024	+	Frame_Shift_Del	DEL	CA	CA	-																															ccacacggagaggcagtgtgCacacacaaagtagatctgct																										TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:77529023_77529024delCA	ENST00000373304.3	-	3	512_513	c.220_221delTG	c.(220-222)cfs	p.C74fs		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	74					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AGGCAGTGTGCACACACAAAGT	0.436													24	10	---	---	---	---					-	77529024	CA	-	77529023	7	5	121	1	0	1	0	1	0	0	0	0	4233	710	25	0	796	0	CYSLTR1	23	77529023	Frame_Shift_Del	DEL	CA	TCGA-CN-A63W-01A-11D-A30E-08	27673612	77529023	77741537	437	23510											
SATL1	340562	broad.mit.edu	37	chrX	84363828	84363828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctcatgcttggttgtttCatgtccacttggttcatttc	4	19	9	9	0	3	0	3	0	0	0	5	0	4	0	1	3	1	5	1	3	0	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:84363828C>G	ENST00000509231.1	-	1	226	c.147G>C	c.(145-147)atG>atC	p.M49I	SATL1_ENST00000332921.5_5'UTR|SATL1_ENST00000395409.3_5'UTR			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	104	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTGGTTGTTTCATGTCCACTT	0.453											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	9					0	0	0	0	G	84363828	C	G	84363828	3	3	121	1	0	0	0	0	1	0	0	0	13941	826	29	2	1771	2	SATL1	23	84363828	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	6834805	84363828	70906732	438	23511											
TEX13A	56157	broad.mit.edu	37	chrX	104465006	104465006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggcctttcgtgtgcctggCcattttctcgttgatgaagg	4	14	14	9	2	1	2	0	2	1	0	3	2	1	2	3	4	1	1	3	4	1	4			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:104465006C>A	ENST00000372578.3	-	2	187	c.76G>T	c.(76-78)Gcc>Tcc	p.A26S	TEX13A_ENST00000372575.1_Missense_Mutation_p.A26S|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.A26S	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	26						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GTGTGCCTGGCCATTTTCTCG	0.542													18	8					3.51602e-12	4.50967e-12	1	0	A	104465006	C	A	104465006	3	1	121	1	0	0	0	0	1	0	0	0	15870	739	26	4	1163	4	TEX13A	23	104465006	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	20101178	104465006	50805554	439	23512											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698150	111698150	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatctcacccagtttcAtggtgaccctgccaattgct	8	12	8	13	0	2	2	2	2	1	0	3	2	2	2	3	1	3	3	3	1	1	2			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:111698150A>G	ENST00000340433.2	+	1	424	c.194A>G	c.(193-195)cAt>cGt	p.H65R		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	65							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACCCAGTTTCATGGTGACCCT	0.512													27	9					0	0	0	0	G	111698150	A	G	111698150	3	3	121	1	0	0	0	0	1	0	0	0	17679	217	8	5	196	5	ZCCHC16	23	111698150	Missense_Mutation	SNP	A	TCGA-CN-A63W-01A-11D-A30E-08	7233144	111698150	43572410	440	23513											
SLITRK4	139065	broad.mit.edu	37	chrX	142717766	142717766	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacatccttgatgctatTgccattgacgtgcagcttct	7	14	8	12	1	1	2	0	2	1	0	3	2	3	2	3	0	4	3	3	0	1	5			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:142717766T>A	ENST00000381779.4	-	2	1384	c.1159A>T	c.(1159-1161)Aat>Tat	p.N387Y	SLITRK4_ENST00000356928.1_Missense_Mutation_p.N387Y|SLITRK4_ENST00000338017.4_Missense_Mutation_p.N387Y	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	387						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)					TTGATGCTATTGCCATTGACG	0.408													53	27					0	0	0	0	A	142717766	T	A	142717766	3	1	121	1	0	0	0	0	1	0	0	0	14833	1812	63	5	1358	5	SLITRK4	23	142717766	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	31019616	142717766	12552794	441	23514											
SLITRK4	139065	broad.mit.edu	37	chrX	142718516	142718516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattaaattgtagtcagcctGgagatactccaagttctcta	12	13	8	8	0	2	1	1	0	1	1	4	3	3	1	2	1	2	2	2	1	6	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:142718516G>C	ENST00000381779.4	-	2	634	c.409C>G	c.(409-411)Cag>Gag	p.Q137E	SLITRK4_ENST00000356928.1_Missense_Mutation_p.Q137E|SLITRK4_ENST00000338017.4_Missense_Mutation_p.Q137E	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	137						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)					TAGTCAGCCTGGAGATACTCC	0.388													49	16					0	0	0	0	C	142718516	G	C	142718516	3	2	121	1	0	0	0	0	1	0	0	0	14833	1357	47	4	2108	4	SLITRK4	23	142718516	Missense_Mutation	SNP	G	TCGA-CN-A63W-01A-11D-A30E-08	750	142718516	12552044	442	23515											
SLITRK2	84631	broad.mit.edu	37	chrX	144904200	144904200	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacgaatttgtcaattactCcaacgcggtgactcttcacc	12	11	6	12	3	3	1	2	1	1	0	4	2	4	1	2	1	3	0	2	1	5	3			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:144904200C>A	ENST00000370490.1	+	1	4512	c.257C>A	c.(256-258)tCc>tAc	p.S86Y	SLITRK2_ENST00000447897.2_Missense_Mutation_p.S86Y|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S86Y|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S86Y|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S86Y			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	86						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GTCAATTACTCCAACGCGGTG	0.473													28	18					0.144211	0.146979	1	0	A	144904200	C	A	144904200	3	1	121	1	0	0	0	0	1	0	0	0	14831	855	30	2	259	2	SLITRK2	23	144904200	Missense_Mutation	SNP	C	TCGA-CN-A63W-01A-11D-A30E-08	2185684	144904200	10366360	443	23516											
IL9R	3581	broad.mit.edu	37	chrX	155234999	155234999	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttatacttgaagccttTgagctggaccctggctttat	7	15	10	9	0	0	2	0	2	0	0	0	3	0	3	2	3	3	3	2	3	4	6			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:155234999T>A	ENST00000424344.3	+	7	940	c.573T>A	c.(571-573)ttT>ttA	p.F191L	IL9R_ENST00000244174.5_Missense_Mutation_p.F212L|IL9R_ENST00000540897.1_Missense_Mutation_p.F237L|IL9R_ENST00000369423.2_Missense_Mutation_p.F247L			Q01113	IL9R_HUMAN	interleukin 9 receptor	212	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGAAGCCTTTGAGCTGGACC	0.587													14	8					0	0	0	0	A	155234999	T	A	155234999	3	1	121	1	0	0	0	0	1	0	0	0	7761	1809	63	5	658	5	IL9R	23	155234999	Missense_Mutation	SNP	T	TCGA-CN-A63W-01A-11D-A30E-08	10330799	155234999	35561	444	23517											
NADK	65220	broad.mit.edu	37	chr1	1686840	1686840	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctgagtaacttgggactGaaagttctcaaagctgaatg	13	10	10	8	0	1	3	1	3	1	0	2	4	1	4	1	1	2	3	1	1	4	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:1686840G>A	ENST00000344463.4	-	9	1317	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	NADK_ENST00000341991.3_Nonsense_Mutation_p.Q221*|NADK_ENST00000341426.5_Nonsense_Mutation_p.Q221*|NADK_ENST00000342348.5_Nonsense_Mutation_p.Q189*|NADK_ENST00000378625.1_Nonsense_Mutation_p.Q366*			O95544	NADK_HUMAN	NAD kinase	221					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		ACTTGGGACTGAAAGTTCTCA	0.592													60	197					0	0	0	0	A	1686840	G	A	1686840	4	1	122	1	0	0	0	0	0	1	0	0	10207	1299	45	2	703	2	NADK	1	1686840	Nonsense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08		1686840	247563781	1	23518											
TNFRSF9	3604	broad.mit.edu	37	chr1	7995117	7995117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcacagaggatgctcccGgagagaggtcggctggagat	9	6	18	8	2	1	3	1	0	0	3	3	7	2	5	1	6	1	2	1	6	0	0	rs145966863	byFrequency	TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:7995117G>A	ENST00000377507.3	-	6	666	c.500C>T	c.(499-501)cCg>cTg	p.P167L		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	167					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.P167L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGCTCCCGGAGAGAGGTC	0.542													14	32					0	0	0	0	A	7995117	G	A	7995117	3	1	122	1	0	0	0	0	1	0	0	0	16394	1116	39	1	279	1	TNFRSF9	1	7995117	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	6308277	7995117	241255504	2	23519											
NBPF1	55672	broad.mit.edu	37	chr1	16902807	16902807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgccagtctacacccctCagccagctgttcttggaggt	6	11	10	14	0	3	0	1	0	2	0	3	1	3	1	4	2	4	2	4	2	1	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:16902807C>T	ENST00000430580.2	-	19	2961	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K	NBPF1_ENST00000432949.1_Missense_Mutation_p.E150K|NBPF1_ENST00000287968.8_Missense_Mutation_p.E57K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	692						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTACACCCCTCAGCCAGCTGT	0.577													28	918					0	0	0	0	T	16902807	C	T	16902807	3	4	122	1	0	0	0	0	1	0	0	0	10262	835	29	2	1394	2	NBPF1	1	16902807	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	8907690	16902807	232347814	3	23520											
NBPF1	55672	broad.mit.edu	37	chr1	16902903	16902903	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcaatgagcaggaggcatCtctcccttcccgtaacttct	9	12	7	13	1	3	1	1	1	2	0	6	2	5	2	2	2	2	3	2	2	2	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:16902903C>G	ENST00000430580.2	-	19	2865	c.1978G>C	c.(1978-1980)Gat>Cat	p.D660H	NBPF1_ENST00000432949.1_Missense_Mutation_p.D118H|NBPF1_ENST00000287968.8_Missense_Mutation_p.D25H	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	660						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGGAGGCATCTCTCCCTTCC	0.532													11	398					0	0	0	0	G	16902903	C	G	16902903	3	3	122	1	0	0	0	0	1	0	0	0	10262	913	32	2	1490	2	NBPF1	1	16902903	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	96	16902903	232347718	4	23521											
TAS1R2	80834	broad.mit.edu	37	chr1	19180755	19180755	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtgcttttgtcacagccGaggaggctgtgcagggcatg	7	9	16	9	1	1	0	1	0	0	0	1	2	1	1	1	4	3	4	1	4	0	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:19180755G>A	ENST00000375371.3	-	3	1230	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	403					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGTCACAGCCGAGGAGGCTGT	0.612													5	28					0	0	0	0	A	19180755	G	A	19180755	2	1	122	1	0	0	0	0	0	0	0	1	15654	1045	37	1		1	TAS1R2	1	19180755	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	2277852	19180755	230069866	5	23522											
BSND	7809	broad.mit.edu	37	chr1	55472860	55472860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtggccctggcgacgttCaggcctggatggaggctgcc	6	7	17	11	2	1	0	1	0	0	0	1	3	1	2	3	7	1	2	3	7	1	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:55472860C>G	ENST00000371265.4	+	3	717	c.463C>G	c.(463-465)Cag>Gag	p.Q155E		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	155						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						TGGCGACGTTCAGGCCTGGAT	0.622													14	95					0	0	0	0	G	55472860	C	G	55472860	3	3	122	1	0	0	0	0	1	0	0	0	1539	827	29	2	473	2	BSND	1	55472860	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	36292105	55472860	193777761	6	23523											
LPPR5	163404	broad.mit.edu	37	chr1	99418842	99418842	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttgtccagcatttacaaaGatatctgtagcaaacagtcc	14	11	6	10	0	1	1	0	0	1	1	3	1	3	1	2	0	4	3	2	0	5	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:99418842G>C	ENST00000370188.3	-	3	765	c.405C>G	c.(403-405)atC>atG	p.I135M	LPPR5_ENST00000263177.4_Missense_Mutation_p.I135M	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		135						integral to membrane	hydrolase activity										CATTTACAAAGATATCTGTAG	0.408													11	62					0	0	0	0	C	99418842	G	C	99418842	3	2	122	1	0	0	0	0	1	0	0	0	8992	932	33	2	576	2	LPPR5	1	99418842	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	43945982	99418842	149831779	7	23524											
TTF2	8458	broad.mit.edu	37	chr1	117618364	117618364	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acgaaggaaaacctccaattCcctgatcgaagtgtgcaaag	15	7	9	10	2	0	1	0	1	0	0	3	4	2	2	3	1	2	1	3	1	6	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:117618364C>T	ENST00000369466.3	+	5	1202	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	386					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		ACCTCCAATTCCCTGATCGAA	0.502													6	38					0	0	0	0	T	117618364	C	T	117618364	2	4	122	1	0	0	0	0	0	0	0	1	16815	854	30	2		2	TTF2	1	117618364	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	18199522	117618364	131632257	8	23525											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859298	149859298	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aatttccgcggtcaggtactCgaggaccgccgccaggtaca	9	7	12	13	5	1	0	1	0	0	0	3	2	2	1	4	4	2	2	4	4	3	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:149859298C>G	ENST00000331128.3	-	1	168	c.169G>C	c.(169-171)Gag>Cag	p.E57Q		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	57					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTCAGGTACTCGAGGACCGCC	0.662													32	109					0	0	0	0	G	149859298	C	G	149859298	3	3	122	1	0	0	0	0	1	0	0	0	7227	893	31	3	227	3	HIST2H2AB	1	149859298	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	32240934	149859298	99391323	9	23526											
OR10J1	26476	broad.mit.edu	37	chr1	159410358	159410358	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgcctccattgcctacctCaagcccaagtcagagaacac	11	8	7	15	0	2	1	2	0	0	1	3	2	3	1	5	0	5	0	5	0	4	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:159410358C>G	ENST00000423932.3	+	1	847	c.810C>G	c.(808-810)ctC>ctG	p.L270L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	270					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TTGCCTACCTCAAGCCCAAGT	0.527													8	120					0	0	0	0	G	159410358	C	G	159410358	2	3	122	1	0	0	0	0	0	0	0	1	10981	813	29	2		2	OR10J1	1	159410358	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	9551060	159410358	89840263	10	23527											
SEC16B	89866	broad.mit.edu	37	chr1	177915616	177915616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtagtggccaaagggcaCgtgagccatgagatagcaga	12	6	16	7	1	0	3	0	2	0	2	0	4	0	3	2	3	2	3	2	3	3	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:177915616C>T	ENST00000308284.6	-	14	1803	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M	RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.V573M|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	572					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CCAAAGGGCACGTGAGCCATG	0.562											OREG0014008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9					0	0	0	0	T	177915616	C	T	177915616	3	4	122	1	0	0	0	0	1	0	0	0	14074	536	19	1	1520	1	SEC16B	1	177915616	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	18505258	177915616	71335005	11	23528											
ABL2	27	broad.mit.edu	37	chr1	179086512	179086512	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtattgtaggcaagactctCtggtgctgtccacttaatag	9	13	11	8	0	1	1	0	0	1	1	3	1	2	1	1	3	1	4	1	3	5	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:179086512C>G	ENST00000502732.1	-	8	1566	c.1363G>C	c.(1363-1365)Gag>Cag	p.E455Q	ABL2_ENST00000512653.1_Missense_Mutation_p.E440Q|ABL2_ENST00000504405.1_Missense_Mutation_p.E419Q|ABL2_ENST00000367623.4_Missense_Mutation_p.E434Q|ABL2_ENST00000344730.3_Missense_Mutation_p.E440Q|ABL2_ENST00000511413.1_Missense_Mutation_p.E455Q|ABL2_ENST00000507173.1_Missense_Mutation_p.E434Q|ABL2_ENST00000408940.3_Missense_Mutation_p.E419Q|ABL2_ENST00000392043.3_Missense_Mutation_p.E434Q	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	455	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GCAAGACTCTCTGGTGCTGTC	0.383			T	ETV6	AML								21	113					0	0	0	0	G	179086512	C	G	179086512	3	3	122	1	0	0	0	0	1	0	0	0	93	922	32	2	2250	2	ABL2	1	179086512	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	1170896	179086512	70164109	12	23529											
CEP350	9857	broad.mit.edu	37	chr1	180064688	180064688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatttggtgccagtgggcagGaagaacttgctaagagactt	11	11	13	6	0	0	2	0	0	0	2	0	4	0	3	1	3	3	2	1	3	4	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:180064688G>A	ENST00000367607.3	+	35	8960	c.8542G>A	c.(8542-8544)Gaa>Aaa	p.E2848K	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2848						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGTGGGCAGGAAGAACTTGC	0.433													5	77					0	0	0	0	A	180064688	G	A	180064688	3	1	122	1	0	0	0	0	1	0	0	0	3283	1175	41	2	8676	2	CEP350	1	180064688	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	978176	180064688	69185933	13	23530											
HHAT	55733	broad.mit.edu	37	chr1	210796934	210796934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgcttcttgttccacctCgatgctgatcctgtccaacc	5	14	6	16	1	1	1	0	1	1	0	5	2	4	1	6	0	3	3	6	0	1	4	rs113371678		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:210796934C>T	ENST00000367010.1	+	11	1537	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	HHAT_ENST00000367009.1_Missense_Mutation_p.S127L|HHAT_ENST00000261458.3_Missense_Mutation_p.S437L|HHAT_ENST00000537898.1_Missense_Mutation_p.S372L|HHAT_ENST00000308852.6_Missense_Mutation_p.S392L|HHAT_ENST00000391905.3_Missense_Mutation_p.S437L|HHAT_ENST00000545781.1_Missense_Mutation_p.S374L|HHAT_ENST00000545154.1_Missense_Mutation_p.S438L|HHAT_ENST00000413764.2_Missense_Mutation_p.S437L|HHAT_ENST00000541565.1_Missense_Mutation_p.S300L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	437					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGTTCCACCTCGATGCTGATC	0.498													71	293					0	0	0	0	T	210796934	C	T	210796934	3	4	122	1	0	0	0	0	1	0	0	0	7139	893	31	1	1446	1	HHAT	1	210796934	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	30732246	210796934	38453687	14	23531											
CENPF	1063	broad.mit.edu	37	chr1	214815174	214815174	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtaatgaagactaaacatGaatgtcaaaatctagaatca	20	9	7	5	0	3	4	2	2	1	2	3	4	3	4	0	1	1	1	0	1	9	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:214815174G>C	ENST00000366955.3	+	12	3661	c.3493G>C	c.(3493-3495)Gaa>Caa	p.E1165Q		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1237					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GACTAAACATGAATGTCAAAA	0.318													17	54					0	0	0	0	C	214815174	G	C	214815174	3	2	122	1	0	0	0	0	1	0	0	0	3260	1291	45	2	3535	2	CENPF	1	214815174	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	4018240	214815174	34435447	15	23532											
TLR5	7100	broad.mit.edu	37	chr1	223285720	223285720	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctgaatgggttcatacaTtttccccagtccactgagac	9	14	7	11	0	2	2	1	2	1	1	4	3	4	2	3	1	1	1	3	1	2	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:223285720T>C	ENST00000540964.1	-	4	1115	c.654A>G	c.(652-654)aaA>aaG	p.K218K	TLR5_ENST00000342210.6_Silent_p.K218K			O60602	TLR5_HUMAN	toll-like receptor 5	218					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GGTTCATACATTTTCCCCAGT	0.458													14	87					0	0	0	0	C	223285720	T	C	223285720	2	2	122	1	0	0	0	0	0	0	0	1	16048	1490	52	5		5	TLR5	1	223285720	Silent	SNP	T	TCGA-CN-A63Y-01A-11D-A30E-08	8470546	223285720	25964901	16	23533											
OR2M7	391196	broad.mit.edu	37	chr1	248487009	248487009	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgcggaggctataaatgaGaggattcagcatgggagtga	12	9	16	4	1	1	2	1	2	0	1	1	6	1	5	0	4	2	3	0	4	3	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:248487009G>C	ENST00000317965.2	-	1	890	c.862C>G	c.(862-864)Ctc>Gtc	p.L288V		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTATAAATGAGAGGATTCAGC	0.423													22	69					0	0	0	0	C	248487009	G	C	248487009	3	2	122	1	0	0	0	0	1	0	0	0	11085	942	33	2	79	2	OR2M7	1	248487009	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	25201289	248487009	763612	17	23534											
RNF144A	9781	broad.mit.edu	37	chr2	7179775	7179775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggttgtgggcatttttGcaggatttgggctgctgctc	4	15	14	8	0	0	0	0	0	0	0	2	1	1	1	1	4	3	6	1	4	0	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:7179775G>T	ENST00000320892.6	+	9	1205	c.763G>T	c.(763-765)Gca>Tca	p.A255S	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	255						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GGGCATTTTTGCAGGATTTGG	0.507													28	121					9.65963e-10	9.99129e-10	1	0	T	7179775	G	T	7179775	3	4	122	1	0	0	0	0	1	0	0	0	13530	1319	46	4	789	4	RNF144A	2	7179775	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08		7179775	236019598	18	23535											
USP34	9736	broad.mit.edu	37	chr2	61431476	61431476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttttccctcctattagcTtgatattttctcgacaaggg	7	17	7	10	1	1	1	0	1	1	0	4	2	3	1	2	1	2	2	2	1	4	8			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:61431476T>C	ENST00000398571.2	-	74	9375	c.9299A>G	c.(9298-9300)aAg>aGg	p.K3100R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3100					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCCTATTAGCTTGATATTTTC	0.413													12	69					0	0	0	0	C	61431476	T	C	61431476	3	2	122	1	0	0	0	0	1	0	0	0	17161	1609	56	5	1369	5	USP34	2	61431476	Missense_Mutation	SNP	T	TCGA-CN-A63Y-01A-11D-A30E-08	54251701	61431476	181767897	19	23536											
EXOC6B	23233	broad.mit.edu	37	chr2	72968471	72968471	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctctcactttcagcagttCagttatagagtccacaaagc	11	12	6	12	0	3	1	3	0	1	1	6	1	5	1	2	0	2	3	2	0	3	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:72968471C>G	ENST00000272427.6	-	2	371	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	EXOC6B_ENST00000410104.1_Missense_Mutation_p.E81Q	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	81					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TTCAGCAGTTCAGTTATAGAG	0.418													32	144					0	0	0	0	G	72968471	C	G	72968471	3	3	122	1	0	0	0	0	1	0	0	0	5346	835	29	2	2278	2	EXOC6B	2	72968471	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	11536995	72968471	170230902	20	23537											
CNGA3	1261	broad.mit.edu	37	chr2	99012614	99012614	+	Frame_Shift_Del	DEL	C	C	-																															tactttgccatttccaagttCattggttttgggacagactc																										TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:99012614delC	ENST00000393504.1	+	8	1398	c.981delC	c.(979-981)ttfs	p.F327fs	CNGA3_ENST00000272602.2_Frame_Shift_Del_p.F327fs|CNGA3_ENST00000436404.2_Frame_Shift_Del_p.F309fs|CNGA3_ENST00000409937.1_Frame_Shift_Del_p.F331fs	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	327					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTTCCAAGTTCATTGGTTTTG	0.478													19	112	---	---	---	---					-	99012614	C	-	99012614	7	5	122	1	0	1	0	1	0	0	0	0	3628	825	29	0	1007	0	CNGA3	2	99012614	Frame_Shift_Del	DEL	C	TCGA-CN-A63Y-01A-11D-A30E-08	26044143	99012614	144186759	21	23538											
LIMS1	3987	broad.mit.edu	37	chr2	109276203	109276203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgcttccagcagttcccaGaaggactcttctatgaggtg	9	11	11	10	0	2	2	0	1	2	1	4	3	4	3	2	2	2	3	2	2	2	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:109276203G>A	ENST00000393310.1	+	2	306	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	LIMS1_ENST00000542845.1_Missense_Mutation_p.E109K|LIMS1_ENST00000544547.1_Missense_Mutation_p.E59K|LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000410093.1_Missense_Mutation_p.E51K|LIMS1_ENST00000338045.3_Missense_Mutation_p.E47K|LIMS1_ENST00000332345.6_Missense_Mutation_p.E47K|LIMS1_ENST00000409441.1_Missense_Mutation_p.E84K|LIMS1_ENST00000393314.2_Missense_Mutation_p.E109K	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	47	LIM zinc-binding 1.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						GCAGTTCCCAGAAGGACTCTT	0.577													13	50					0	0	0	0	A	109276203	G	A	109276203	3	1	122	1	0	0	0	0	1	0	0	0	8857	943	33	2	141	2	LIMS1	2	109276203	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	10263589	109276203	133923170	22	23539											
GPR17	2840	broad.mit.edu	37	chr2	128408991	128408991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcctgcgtgtggagaagCgcctcaagaccaaggcagtg	10	5	16	10	2	1	2	1	0	0	2	1	3	1	2	3	3	2	1	3	3	3	0			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:128408991C>T	ENST00000544369.1	+	4	1377	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.R256C|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.R256C	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	256						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TGTGGAGAAGCGCCTCAAGAC	0.622													4	102					0	0	0	0	T	128408991	C	T	128408991	3	4	122	1	0	0	0	0	1	0	0	0	6716	768	27	1	772	1	GPR17	2	128408991	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	19132788	128408991	114790382	23	23540											
PLEKHB2	55041	broad.mit.edu	37	chr2	131904248	131904248	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctaaccaagtcatcattCgagagcgctatcgagacaac	13	8	8	12	3	2	2	2	0	0	2	4	4	2	2	1	0	4	2	1	0	4	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:131904248C>T	ENST00000403716.1	+	8	1131	c.571C>T	c.(571-573)Cga>Tga	p.R191*	PLEKHB2_ENST00000409279.1_Nonsense_Mutation_p.R191*|PLEKHB2_ENST00000439822.2_Silent_p.F146F|PLEKHB2_ENST00000538982.1_Nonsense_Mutation_p.R143*|PLEKHB2_ENST00000409158.1_Nonsense_Mutation_p.R199*|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000409612.1_Nonsense_Mutation_p.R191*|PLEKHB2_ENST00000234115.6_Nonsense_Mutation_p.R190*|PLEKHB2_ENST00000438882.2_Silent_p.F154F|PLEKHB2_ENST00000303908.3_Intron	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	191						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		AGTCATCATTCGAGAGCGCTA	0.507													61	210					0	0	0	0	T	131904248	C	T	131904248	4	4	122	1	0	0	0	0	0	1	0	0	12137	876	31	1	597	1	PLEKHB2	2	131904248	Nonsense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	3495257	131904248	111295125	24	23541											
ARHGAP15	55843	broad.mit.edu	37	chr2	143959724	143959724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatccagacacagaaggaatCattcacagcatatcttgaaa	17	9	6	9	0	3	3	2	1	1	2	4	4	4	4	1	1	1	1	1	1	5	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:143959724C>T	ENST00000409869.1	+	4	364	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.H63Y			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	63					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CAGAAGGAATCATTCACAGCA	0.299													15	54					0	0	0	0	T	143959724	C	T	143959724	3	4	122	1	0	0	0	0	1	0	0	0	868	826	29	2	193	2	ARHGAP15	2	143959724	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	12055476	143959724	99239649	25	23542											
NEB	4703	broad.mit.edu	37	chr2	152522033	152522033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccctttcatccaattggtGaagtcagatttgtacagatt	11	15	7	8	0	2	3	2	1	0	2	4	3	4	3	2	1	1	1	2	1	3	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:152522033G>A	ENST00000397345.3	-	42	5254	c.5052C>T	c.(5050-5052)ttC>ttT	p.F1684F	NEB_ENST00000603639.1_Silent_p.F1684F|NEB_ENST00000604864.1_Silent_p.F1684F|NEB_ENST00000427231.2_Silent_p.F1684F|NEB_ENST00000409198.1_Silent_p.F1684F|NEB_ENST00000172853.10_Silent_p.F1684F	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1684					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCAATTGGTGAAGTCAGATT	0.413													7	17					0	0	0	0	A	152522033	G	A	152522033	2	1	122	1	0	0	0	0	0	0	0	1	10372	1281	45	2		2	NEB	2	152522033	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	8562309	152522033	90677340	26	23543											
SCN9A	6335	broad.mit.edu	37	chr2	167055739	167055739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccagggcagctgcaaaatCagagagtttagagaactcta	15	8	10	8	0	2	2	1	0	1	2	3	4	3	2	1	1	3	4	1	1	5	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:167055739C>T	ENST00000375387.4	-	27	5753	c.5413G>A	c.(5413-5415)Gat>Aat	p.D1805N	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.D1793N|SCN9A_ENST00000409435.1_Missense_Mutation_p.D1804N|SCN9A_ENST00000303354.6_Missense_Mutation_p.D1805N			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1804						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCTGCAAAATCAGAGAGTTTA	0.473													35	114					0	0	0	0	T	167055739	C	T	167055739	3	4	122	1	0	0	0	0	1	0	0	0	14012	826	29	2	560	2	SCN9A	2	167055739	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	14533706	167055739	76143634	27	23544											
SCN9A	6335	broad.mit.edu	37	chr2	167056284	167056284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgctcctttgactagaCgtaggattcggccaatcctg	7	13	9	12	2	0	2	0	1	0	1	3	3	2	3	4	2	1	2	4	2	3	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:167056284C>T	ENST00000375387.4	-	27	5208	c.4868G>A	c.(4867-4869)cGt>cAt	p.R1623H	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1611H|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1622H|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1623H			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1622						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTGACTAGACGTAGGATTCG	0.498													38	139					0	0	0	0	T	167056284	C	T	167056284	3	4	122	1	0	0	0	0	1	0	0	0	14012	536	19	1	1105	1	SCN9A	2	167056284	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	545	167056284	76143089	28	23545											
OSBPL6	114880	broad.mit.edu	37	chr2	179247226	179247226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgttgcagacaatatttCtcggcaaagtatgcatcatt	12	13	8	8	1	2	1	1	0	1	1	3	1	2	1	0	1	2	5	0	1	4	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:179247226C>T	ENST00000190611.4	+	16	1989	c.1613C>T	c.(1612-1614)tCt>tTt	p.S538F	OSBPL6_ENST00000392505.2_Missense_Mutation_p.S563F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.S542F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S502F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S502F|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S471F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S507F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	538					lipid transport		lipid binding	p.S538F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GACAATATTTCTCGGCAAAGT	0.428													5	26					0	0	0	0	T	179247226	C	T	179247226	3	4	122	1	0	0	0	0	1	0	0	0	11352	913	32	2	1789	2	OSBPL6	2	179247226	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	12190942	179247226	63952147	29	23546											
DUSP19	142679	broad.mit.edu	37	chr2	183960311	183960311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatgtccaaattctggcttCatggagcagcttcgtacata	11	13	8	9	1	2	0	1	0	1	0	4	1	3	1	1	2	3	4	1	2	4	6			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:183960311C>T	ENST00000354221.4	+	4	754	c.579C>T	c.(577-579)ttC>ttT	p.F193F	DUSP19_ENST00000342619.6_Silent_p.F142F|AC064871.3_ENST00000413954.1_RNA|DUSP19_ENST00000469344.1_3'UTR|AC064871.3_ENST00000444562.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	193	Tyrosine-protein phosphatase.				JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						ATTCTGGCTTCATGGAGCAGC	0.393													18	85					0	0	0	0	T	183960311	C	T	183960311	2	4	122	1	0	0	0	0	0	0	0	1	4854	825	29	2		2	DUSP19	2	183960311	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	4713085	183960311	59239062	30	23547											
GPR55	9290	broad.mit.edu	37	chr2	231774925	231774925	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgataaagctgtttctcacCaggaactgcaggaagaaccc	14	7	9	11	1	1	1	1	0	1	1	2	4	1	3	2	2	4	3	2	2	5	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:231774925C>T	ENST00000392040.1	-	2	945	c.753G>A	c.(751-753)ctG>ctA	p.L251L	GPR55_ENST00000392039.2_Silent_p.L251L	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	251					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		TGTTTCTCACCAGGAACTGCA	0.542													20	97					0	0	0	0	T	231774925	C	T	231774925	2	4	122	1	0	0	0	0	0	0	0	1	6748	581	21	4		4	GPR55	2	231774925	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	47814614	231774925	11424448	31	23548											
LRRN1	57633	broad.mit.edu	37	chr3	3886722	3886722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaggaaaatcagattaccGagatgactgattactgtcta	14	11	10	6	1	2	4	1	2	1	2	2	7	2	6	1	2	2	0	1	2	5	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:3886722G>A	ENST00000319331.3	+	2	1158	c.397G>A	c.(397-399)Gag>Aag	p.E133K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	133						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCAGATTACCGAGATGACTGA	0.428													8	65					0	0	0	0	A	3886722	G	A	3886722	3	1	122	1	0	0	0	0	1	0	0	0	9098	1059	37	1	399	1	LRRN1	3	3886722	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08		3886722	194135708	32	23549											
FANCD2	2177	broad.mit.edu	37	chr3	10084814	10084814	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggcttcccaagtaaagttGaaaagtaaaggacgagcaag	17	6	11	7	1	0	1	0	1	0	0	1	3	1	2	1	2	1	5	1	2	8	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:10084814G>A	ENST00000287647.3	+	12	1062	c.969G>A	c.(967-969)ttG>ttA	p.L323L	FANCD2_ENST00000383806.1_Silent_p.L323L|FANCD2_ENST00000383807.1_Silent_p.L323L|FANCD2_ENST00000419585.1_Silent_p.L323L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	323	Interaction with BRCA2.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAGTAAAGTTGAAAAGTAAAG	0.413			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				17	52					0	0	0	0	A	10084814	G	A	10084814	2	1	122	1	0	0	0	0	0	0	0	1	5710	1281	45	2		2	FANCD2	3	10084814	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	6198092	10084814	187937616	33	23550			1	32		3	3	727	G		1.139233e-05
FANCD2	2177	broad.mit.edu	37	chr3	10085242	10085242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtaataaagtcagctattaGatatgagaaaaccatttcag	17	12	7	5	0	2	2	2	1	0	2	2	3	2	2	1	0	2	2	1	0	8	6			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:10085242G>A	ENST00000287647.3	+	13	1157	c.1064G>A	c.(1063-1065)aGa>aAa	p.R355K	FANCD2_ENST00000383806.1_Missense_Mutation_p.R355K|FANCD2_ENST00000383807.1_Missense_Mutation_p.R355K|FANCD2_ENST00000419585.1_Missense_Mutation_p.R355K	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	355	Interaction with BRCA2.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCAGCTATTAGATATGAGAAA	0.368			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	50					0	0	0	0	A	10085242	G	A	10085242	3	1	122	1	0	0	0	0	1	0	0	0	5710	942	33	2	1110	2	FANCD2	3	10085242	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	428	10085242	187937188	34	23551			1	32		3	3	727	G		1.139233e-05
FANCD2	2177	broad.mit.edu	37	chr3	10085540	10085540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacactgcctcagtatctGaacacaaggtaatgttcatg	15	10	7	9	0	3	1	2	1	1	0	3	1	3	1	1	1	3	3	1	1	6	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:10085540G>A	ENST00000287647.3	+	14	1219	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	FANCD2_ENST00000383806.1_Missense_Mutation_p.E376K|FANCD2_ENST00000383807.1_Missense_Mutation_p.E376K|FANCD2_ENST00000419585.1_Missense_Mutation_p.E376K	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	376					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CTCAGTATCTGAACACAAGGT	0.398			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	19					0	0	0	0	A	10085540	G	A	10085540	3	1	122	1	0	0	0	0	1	0	0	0	5710	1291	45	2	1176	2	FANCD2	3	10085540	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	298	10085540	187936890	35	23552			1	32		3	3	727	G		1.139233e-05
ATP2B2	491	broad.mit.edu	37	chr3	10420934	10420934	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaaagggttacctttgctCtggctggcgtccacattgcc	8	11	10	12	1	1	0	0	0	1	0	2	0	2	0	3	3	3	3	3	3	3	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:10420934C>G	ENST00000360273.2	-	9	1473	c.1035G>C	c.(1033-1035)caG>caC	p.Q345H	ATP2B2_ENST00000352432.4_Missense_Mutation_p.Q345H|ATP2B2_ENST00000397077.1_Intron|ATP2B2_ENST00000383800.4_Intron|ATP2B2_ENST00000343816.4_Intron	NM_001001331.2	NP_001001331.1	Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	345					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TACCTTTGCTCTGGCTGGCGT	0.522													11	17					0	0	0	0	G	10420934	C	G	10420934	3	3	122	1	0	0	0	0	1	0	0	0	1144	912	32	2	2756	2	ATP2B2	3	10420934	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	335394	10420934	187601496	36	23553											
GPX1	2876	broad.mit.edu	37	chr3	49395178	49395178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctcttcgttcttggcgttCtcctacaggagagaagggca	8	12	11	10	2	3	1	0	0	3	1	6	3	3	2	1	3	1	3	1	3	2	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:49395178C>G	ENST00000419783.1	-	2	576	c.255G>C	c.(253-255)gaG>gaC	p.E85D	GPX1_ENST00000419349.1_3'UTR|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	85					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	TCTTGGCGTTCTCCTACAGGA	0.517													20	80					0	0	0	0	G	49395178	C	G	49395178	3	3	122	1	0	0	0	0	1	0	0	0	6789	912	32	2	360	2	GPX1	3	49395178	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	38974244	49395178	148627252	37	23554											
MON1A	84315	broad.mit.edu	37	chr3	49948975	49948975	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcacctgcatggatggagcgGatggcgttcttgtctgcctc	5	12	13	11	2	3	0	1	0	2	0	4	3	3	3	2	4	3	2	2	4	0	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:49948975G>A	ENST00000417270.1	-	4	1314	c.621C>T	c.(619-621)atC>atT	p.I207I	CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Silent_p.I296I|MON1A_ENST00000455683.2_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	199							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGATGGAGCGGATGGCGTTCT	0.597													18	68					0	0	0	0	A	49948975	G	A	49948975	2	1	122	1	0	0	0	0	0	0	0	1	9768	1164	41	2		2	MON1A	3	49948975	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	553797	49948975	148073455	38	23555											
MON1A	84315	broad.mit.edu	37	chr3	49949205	49949205	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgcccaactgcccctggggGttccagccaatcctcagagc	7	7	10	17	1	1	1	1	0	0	1	4	1	3	1	6	2	4	1	6	2	2	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:49949205G>C	ENST00000417270.1	-	4	1084	c.391C>G	c.(391-393)Ccc>Gcc	p.P131A	CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000483022.1_5'UTR|MON1A_ENST00000296473.3_Missense_Mutation_p.P220A|MON1A_ENST00000455683.2_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	123							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCCCTGGGGGTTCCAGCCAA	0.657													16	72					0	0	0	0	C	49949205	G	C	49949205	3	2	122	1	0	0	0	0	1	0	0	0	9768	1261	44	4	1316	4	MON1A	3	49949205	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	230	49949205	148073225	39	23556											
CADPS	8618	broad.mit.edu	37	chr3	62860622	62860622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacaggcgcgcgccggacGgggccgagccgagcacctcc	7	1	17	16	7	0	1	0	0	0	1	1	5	1	2	5	4	2	1	5	4	0	0			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:62860622G>A	ENST00000383710.4	-	1	432	c.83C>T	c.(82-84)cCg>cTg	p.P28L	CADPS_ENST00000490353.2_Missense_Mutation_p.P28L|CADPS_ENST00000357948.3_Missense_Mutation_p.P28L|CADPS_ENST00000283269.9_Missense_Mutation_p.P28L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	28					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGCGCCGGACGGGGCCGAGCC	0.746													3	13					0	0	0	0	A	62860622	G	A	62860622	3	1	122	1	0	0	0	0	1	0	0	0	2595	1116	39	1	4171	1	CADPS	3	62860622	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	12911417	62860622	135161808	40	23557											
KBTBD8	84541	broad.mit.edu	37	chr3	67049505	67049505	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagtattcttaagcaactCaaaacaatgtacgatgaagg	16	10	8	7	1	2	1	1	1	1	0	2	2	2	1	0	1	5	4	0	1	8	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:67049505C>G	ENST00000295568.4	+	2	170	c.39C>G	c.(37-39)ctC>ctG	p.L13L	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_3'UTR|KBTBD8_ENST00000417314.2_Silent_p.L39L	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	39										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TTAAGCAACTCAAAACAATGT	0.453													10	40					0	0	0	0	G	67049505	C	G	67049505	2	3	122	1	0	0	0	0	0	0	0	1	8052	813	29	2		2	KBTBD8	3	67049505	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	4188883	67049505	130972925	41	23558											
STXBP5L	9515	broad.mit.edu	37	chr3	120760566	120760566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactcgggagacctggtgttGattgctattgccaacatgaa	10	11	12	8	1	0	3	0	2	0	1	1	5	0	3	2	2	3	2	2	2	3	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:120760566G>A	ENST00000273666.6	+	4	578	c.307G>A	c.(307-309)Gat>Aat	p.D103N	STXBP5L_ENST00000492541.1_Missense_Mutation_p.D103N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D103N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D103N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D103N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	103					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACCTGGTGTTGATTGCTATTG	0.348													9	54					0	0	0	0	A	120760566	G	A	120760566	3	1	122	1	0	0	0	0	1	0	0	0	15447	1290	45	2	317	2	STXBP5L	3	120760566	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	53711061	120760566	77261864	42	23559											
STXBP5L	9515	broad.mit.edu	37	chr3	121126200	121126200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatccaaacaacatagatGaaaatgaaaaatcttggaga	20	7	9	5	0	1	4	0	2	1	2	2	6	2	5	1	2	2	0	1	2	7	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:121126200G>A	ENST00000273666.6	+	24	3041	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	STXBP5L_ENST00000492541.1_Missense_Mutation_p.E924K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E900K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E900K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E898K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	924					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAACATAGATGAAAATGAAAA	0.393													6	50					0	0	0	0	A	121126200	G	A	121126200	3	1	122	1	0	0	0	0	1	0	0	0	15447	1291	45	2	2860	2	STXBP5L	3	121126200	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	365634	121126200	76896230	43	23560											
PARP14	54625	broad.mit.edu	37	chr3	122437494	122437494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctttgattaaggttttggGaattagcagagatgtgatgc	11	14	12	4	0	0	3	0	2	0	1	0	5	0	4	1	2	2	2	1	2	3	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:122437494G>A	ENST00000474629.2	+	14	4762	c.4496G>A	c.(4495-4497)gGa>gAa	p.G1499E	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1499				G -> A (in Ref. 1; AAN08627).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAGGTTTTGGGAATTAGCAGA	0.413													52	247					0	0	0	0	A	122437494	G	A	122437494	3	1	122	1	0	0	0	0	1	0	0	0	11529	1174	41	2	4550	2	PARP14	3	122437494	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	1311294	122437494	75584936	44	23561											
COL6A6	131873	broad.mit.edu	37	chr3	130300675	130300675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatataacagttaaaggacCatctcttctcaatgcaaacc	15	10	6	10	0	2	0	1	0	2	0	4	2	2	2	2	2	3	2	2	2	6	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:130300675C>A	ENST00000358511.6	+	8	3849	c.3818C>A	c.(3817-3819)cCa>cAa	p.P1273Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.P1273Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1273	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTTAAAGGACCATCTCTTCTC	0.368													48	193					1.63038e-21	1.71581e-21	1	0	A	130300675	C	A	130300675	3	1	122	1	0	0	0	0	1	0	0	0	3733	594	21	4	3848	4	COL6A6	3	130300675	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	7863181	130300675	67721755	45	23562											
NUDT16	131870	broad.mit.edu	37	chr3	131100765	131100765	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggatgctcttcggccgcatCccgctgcgctacgccatact	5	9	11	16	5	1	0	0	0	1	0	3	1	2	1	3	2	4	4	3	2	2	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:131100765C>T	ENST00000359850.3	+	1	157	c.18C>T	c.(16-18)atC>atT	p.I6I	NUDT16_ENST00000521288.1_Silent_p.I39I|NUDT16_ENST00000537561.1_Intron|NUDT16_ENST00000502852.1_Silent_p.I39I	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	39						nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						TCGGCCGCATCCCGCTGCGCT	0.721													6	38					0	0	0	0	T	131100765	C	T	131100765	2	4	122	1	0	0	0	0	0	0	0	1	10803	845	30	2		2	NUDT16	3	131100765	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	800090	131100765	66921665	46	23563											
SLC25A36	55186	broad.mit.edu	37	chr3	140695131	140695131	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaacaagactacgtgaagagGgaacaaaatacagatctttt	18	8	9	6	1	1	4	0	1	1	3	1	6	1	5	0	1	4	0	0	1	8	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:140695131G>T	ENST00000446041.2	+	7	994	c.769G>T	c.(769-771)Gga>Tga	p.G257*	SLC25A36_ENST00000453248.2_Nonsense_Mutation_p.G232*|SLC25A36_ENST00000324194.6_Nonsense_Mutation_p.G258*	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	258					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						ACGTGAAGAGGGAACAAAATA	0.343													8	32					1.12685e-05	1.14587e-05	1	0	T	140695131	G	T	140695131	4	4	122	1	0	0	0	0	0	1	0	0	14588	1233	43	4	798	4	SLC25A36	3	140695131	Nonsense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	9594366	140695131	57327299	47	23564											
IGSF10	285313	broad.mit.edu	37	chr3	151162905	151162905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttgaactggtttcttatCaaagtcactcttctttgtgt	7	20	6	8	0	6	1	2	1	4	0	6	1	6	1	0	1	1	1	0	1	3	6			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:151162905C>G	ENST00000282466.3	-	4	4863	c.4864G>C	c.(4864-4866)Gat>Cat	p.D1622H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1622					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTTTCTTATCAAAGTCACTC	0.433													17	107					0	0	0	0	G	151162905	C	G	151162905	3	3	122	1	0	0	0	0	1	0	0	0	7650	826	29	2	3067	2	IGSF10	3	151162905	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	10467774	151162905	46859525	48	23565											
IGSF10	285313	broad.mit.edu	37	chr3	151162930	151162930	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcactcttctttgtgttcttCtgtccatcccaatctgaaac	7	17	4	13	0	6	1	1	1	5	0	8	1	8	1	2	0	1	1	2	0	2	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:151162930C>G	ENST00000282466.3	-	4	4838	c.4839G>C	c.(4837-4839)caG>caC	p.Q1613H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1613					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGTGTTCTTCTGTCCATCCC	0.413													26	111					0	0	0	0	G	151162930	C	G	151162930	3	3	122	1	0	0	0	0	1	0	0	0	7650	912	32	2	3092	2	IGSF10	3	151162930	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	25	151162930	46859500	49	23566											
HTR3C	170572	broad.mit.edu	37	chr3	183778026	183778026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggatggacaaagacccaGctaatggagctgtgggtgca	12	7	14	8	0	1	1	1	0	0	1	1	4	1	4	1	4	3	3	1	4	2	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:183778026G>A	ENST00000318351.1	+	9	1264	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	410						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAAAGACCCAGCTAATGGAGC	0.597													39	121					0	0	0	0	A	183778026	G	A	183778026	2	1	122	1	0	0	0	0	0	0	0	1	7499	962	34	4		4	HTR3C	3	183778026	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	32615096	183778026	14244404	50	23567											
DNAJB11	51726	broad.mit.edu	37	chr3	186302284	186302284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggaagaaaggggaagggctCcccaactttgacaacaacaa	16	5	11	9	0	0	2	0	1	0	1	1	4	1	4	2	4	3	1	2	4	7	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:186302284C>T	ENST00000439351.1	+	10	1847	c.918C>T	c.(916-918)ctC>ctT	p.L306L	DNAJB11_ENST00000265028.3_Silent_p.L306L			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	306					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GGGAAGGGCTCCCCAACTTTG	0.453													5	65					0	0	0	0	T	186302284	C	T	186302284	2	4	122	1	0	0	0	0	0	0	0	1	4652	842	30	2		2	DNAJB11	3	186302284	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	2524258	186302284	11720146	51	23568											
WHSC1	7468	broad.mit.edu	37	chr4	1941403	1941403	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaaaaatctgtctgatgcAtgtaaaccactgaagaagcg	16	8	9	8	2	2	3	0	2	2	1	2	4	2	3	1	0	3	2	1	0	6	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr4:1941403A>G	ENST00000503128.1	+	9	1986	c.1779A>G	c.(1777-1779)gcA>gcG	p.A593A	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Silent_p.A593A|WHSC1_ENST00000382892.2_Silent_p.A593A|WHSC1_ENST00000382895.3_Silent_p.A593A|WHSC1_ENST00000508803.1_Silent_p.A593A|WHSC1_ENST00000398261.1_Silent_p.A593A|WHSC1_ENST00000514045.1_Silent_p.A593A|WHSC1_ENST00000420906.2_Silent_p.A593A			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	593					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGTCTGATGCATGTAAACCAC	0.378			T	IGH@	MM								10	48					0	0	0	0	G	1941403	A	G	1941403	2	3	122	1	0	0	0	0	0	0	0	1	17458	204	8	5		5	WHSC1	4	1941403	Silent	SNP	A	TCGA-CN-A63Y-01A-11D-A30E-08		1941403	189212873	52	23569											
WDFY3	23001	broad.mit.edu	37	chr4	85717800	85717800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggtcaggggtacagtacttCcttccgcagattttaccagg	8	12	11	10	1	1	1	1	0	0	1	3	1	3	1	3	4	3	3	3	4	3	6			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr4:85717800C>T	ENST00000322366.6	-	19	3448	c.3041G>A	c.(3040-3042)gGa>gAa	p.G1014E	WDFY3_ENST00000295888.4_Missense_Mutation_p.G1014E			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1014						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TACAGTACTTCCTTCCGCAGA	0.448													18	82					0	0	0	0	T	85717800	C	T	85717800	3	4	122	1	0	0	0	0	1	0	0	0	17366	855	30	2	7739	2	WDFY3	4	85717800	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	83776397	85717800	105436476	53	23570											
NDST4	64579	broad.mit.edu	37	chr4	115751020	115751020	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcctccttccagtaattGacaccaaaaacccttttggg	10	13	5	13	0	0	1	0	1	0	0	3	1	3	1	5	1	1	1	5	1	3	6			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr4:115751020G>A	ENST00000264363.2	-	13	3103	c.2425C>T	c.(2425-2427)Caa>Taa	p.Q809*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	809	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCCAGTAATTGACACCAAAAA	0.348													14	28					0	0	0	0	A	115751020	G	A	115751020	4	1	122	1	0	0	0	0	0	1	0	0	10328	1299	45	2	201	2	NDST4	4	115751020	Nonsense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	30033220	115751020	75403256	54	23571											
NAA15	80155	broad.mit.edu	37	chr4	140272760	140272760	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcattatacaaagacaaaGaaaaggtaaagtgaaatatg	22	8	8	3	0	1	3	1	1	0	2	1	4	1	3	0	1	1	1	0	1	10	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr4:140272760G>T	ENST00000296543.5	+	9	1332	c.1009G>T	c.(1009-1011)Gaa>Taa	p.E337*	NAA15_ENST00000398947.1_Nonsense_Mutation_p.E337*|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	337					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CAAAGACAAAGAAAAGGTAAA	0.338													20	68					7.45023e-12	7.77275e-12	1	0	T	140272760	G	T	140272760	4	4	122	1	0	0	0	0	0	1	0	0	10188	943	33	2	1043	2	NAA15	4	140272760	Nonsense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	24521740	140272760	50881516	55	23572											
GUCY1A3	2982	broad.mit.edu	37	chr4	156632234	156632234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaatttggcaatggcatcaGaaggctgatgaacaggagag	14	7	14	6	0	1	4	1	2	0	2	1	5	1	4	0	4	1	4	0	4	4	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr4:156632234G>A	ENST00000296518.7	+	6	1126	c.917G>A	c.(916-918)aGa>aAa	p.R306K	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R306K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R306K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R306K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R306K|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R306K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R48K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	306					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AATGGCATCAGAAGGCTGATG	0.403													17	61					0	0	0	0	A	156632234	G	A	156632234	3	1	122	1	0	0	0	0	1	0	0	0	6944	942	33	2	931	2	GUCY1A3	4	156632234	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	16359474	156632234	34522042	56	23573											
NKD2	85409	broad.mit.edu	37	chr5	1037993	1037993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcccggtcccgctcccaGgagccagatacacatgccgt	8	5	11	17	3	0	1	0	0	0	1	2	2	2	2	5	3	3	1	5	3	1	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:1037993G>C	ENST00000296849.5	+	10	1090	c.861G>C	c.(859-861)caG>caC	p.Q287H	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Intron	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	287					exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CCCGCTCCCAGGAGCCAGATA	0.687													5	22					0	0	0	0	C	1037993	G	C	1037993	3	2	122	1	0	0	0	0	1	0	0	0	10512	991	35	4	899	4	NKD2	5	1037993	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08		1037993	179877267	57	23574											
UGT3A1	133688	broad.mit.edu	37	chr5	35968190	35968190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttgatgatcttcaggtGaaaaccacctgataacttgg	11	15	8	7	0	2	4	1	4	1	0	2	4	2	4	2	2	2	0	2	2	3	6			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:35968190G>A	ENST00000274278.3	-	3	599	c.242C>T	c.(241-243)tCa>tTa	p.S81L	UGT3A1_ENST00000507113.1_Missense_Mutation_p.S47L|UGT3A1_ENST00000503189.1_Missense_Mutation_p.S81L|UGT3A1_ENST00000333811.4_Missense_Mutation_p.S27L|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	81						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)			ATCTTCAGGTGAAAACCACCT	0.318													6	27					0	0	0	0	A	35968190	G	A	35968190	3	1	122	1	0	0	0	0	1	0	0	0	17059	1294	45	2	1431	2	UGT3A1	5	35968190	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	34930197	35968190	144947070	58	23575											
NIPBL	25836	broad.mit.edu	37	chr5	37051937	37051937	+	Silent	SNP	G	G	A																															gaacctgctatgcggaacaaGgctgatcagcaacttgtgga																										TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:37051937G>A	ENST00000282516.8	+	41	7510	c.7011G>A	c.(7009-7011)aaG>aaA	p.K2337K	NIPBL_ENST00000448238.2_Silent_p.K2337K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2337					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGCGGAACAAGGCTGATCAGC	0.318													11	44					0	0	0	0	A	37051937	G	A	37051937	2	1	122	1	0	0	0	0	0	0	0	1	10498	991	35	4		4	NIPBL	5	37051937	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	1083747	37051937	143863323	59	23576	196	2									
NIPBL	25836	broad.mit.edu	37	chr5	37051941	37051941	+	Missense_Mutation	SNP	G	G	A																															ctgctatgcggaacaaggctGatcagcaacttgtggaaata																										TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:37051941G>A	ENST00000282516.8	+	41	7514	c.7015G>A	c.(7015-7017)Gat>Aat	p.D2339N	NIPBL_ENST00000448238.2_Missense_Mutation_p.D2339N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2339					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAACAAGGCTGATCAGCAACT	0.323													11	45					0	0	0	0	A	37051941	G	A	37051941	3	1	122	1	0	0	0	0	1	0	0	0	10498	1290	45	2	7173	2	NIPBL	5	37051941	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	4	37051941	143863319	60	23577	196	2									
NIPBL	25836	broad.mit.edu	37	chr5	37051956	37051956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggctgatcagcaacttgtgGaaatagacaaaaaatatgct	17	9	9	6	0	1	2	1	1	0	1	1	3	1	3	0	2	3	3	0	2	7	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:37051956G>A	ENST00000282516.8	+	41	7529	c.7030G>A	c.(7030-7032)Gaa>Aaa	p.E2344K	NIPBL_ENST00000448238.2_Missense_Mutation_p.E2344K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2344					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCAACTTGTGGAAATAGACAA	0.313													10	45					0	0	0	0	A	37051956	G	A	37051956	3	1	122	1	0	0	0	0	1	0	0	0	10498	1175	41	2	7188	2	NIPBL	5	37051956	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	15	37051956	143863304	61	23578											
ZNF131	7690	broad.mit.edu	37	chr5	43139394	43139394	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacaaatgctagaagctatCaaagcccttgaagtcaggta	15	9	8	9	0	2	2	2	1	0	1	2	2	2	2	1	1	4	3	1	1	8	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:43139394C>G	ENST00000509634.1	+	3	810	c.354C>G	c.(352-354)atC>atG	p.I118M	ZNF131_ENST00000306938.4_Missense_Mutation_p.I118M|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.I118M|ZNF131_ENST00000509156.1_Missense_Mutation_p.I118M|ZNF131_ENST00000505606.2_Missense_Mutation_p.I118M			P52739	ZN131_HUMAN	zinc finger protein 131	118						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TAGAAGCTATCAAAGCCCTTG	0.348													24	80					0	0	0	0	G	43139394	C	G	43139394	3	3	122	1	0	0	0	0	1	0	0	0	17816	816	29	2	364	2	ZNF131	5	43139394	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	6087438	43139394	137775866	62	23579											
PARP8	79668	broad.mit.edu	37	chr5	50111356	50111356	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaaatagcaactggagctCaggtagtaacacaggatact	16	8	10	7	0	1	1	1	1	0	0	1	3	1	3	0	3	5	4	0	3	6	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:50111356C>T	ENST00000281631.5	+	15	1824	c.1666C>T	c.(1666-1668)Cag>Tag	p.Q556*	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Nonsense_Mutation_p.Q556*|PARP8_ENST00000505554.1_Nonsense_Mutation_p.Q535*|PARP8_ENST00000505697.2_Nonsense_Mutation_p.Q556*|PARP8_ENST00000514342.2_Nonsense_Mutation_p.Q309*|PARP8_ENST00000514067.2_Nonsense_Mutation_p.Q556*	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	556						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AACTGGAGCTCAGGTAGTAAC	0.378													7	29					0	0	0	0	T	50111356	C	T	50111356	4	4	122	1	0	0	0	0	0	1	0	0	11536	827	29	2	1724	2	PARP8	5	50111356	Nonsense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	6971962	50111356	130803904	63	23580											
GFM2	84340	broad.mit.edu	37	chr5	74041581	74041581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttccaagaggggctttctCtcaaagtcttttccatcatt	9	16	6	10	0	4	1	2	0	2	1	7	1	6	1	2	2	0	1	2	2	2	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:74041581C>G	ENST00000296805.3	-	10	1228	c.771G>C	c.(769-771)gaG>gaC	p.E257D	GFM2_ENST00000345239.2_Missense_Mutation_p.E257D|GFM2_ENST00000427854.2_Missense_Mutation_p.E257D|GFM2_ENST00000509430.1_Missense_Mutation_p.E257D	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	257					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GGGGCTTTCTCTCAAAGTCTT	0.348													12	34					0	0	0	0	G	74041581	C	G	74041581	3	3	122	1	0	0	0	0	1	0	0	0	6393	912	32	2	1648	2	GFM2	5	74041581	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	23930225	74041581	106873679	64	23581											
CMYA5	202333	broad.mit.edu	37	chr5	79026961	79026961	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacctaggaagtgaacgtttCacaccggattcaaagttgat	13	10	10	8	2	2	2	2	2	0	0	2	5	2	4	2	2	1	2	2	2	4	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:79026961C>G	ENST00000446378.2	+	2	2404	c.2373C>G	c.(2371-2373)ttC>ttG	p.F791L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	791						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTGAACGTTTCACACCGGATT	0.453													24	85					0	0	0	0	G	79026961	C	G	79026961	3	3	122	1	0	0	0	0	1	0	0	0	3620	825	29	2	2379	2	CMYA5	5	79026961	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	4985380	79026961	101888299	65	23582											
TRIM36	55521	broad.mit.edu	37	chr5	114499269	114499269	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggggaggggagccgaagtcGaggactgctttgattggagt	9	8	19	5	2	0	1	0	1	0	0	1	7	0	5	1	6	2	1	1	6	1	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:114499269G>A	ENST00000513154.1	-	2	534	c.208C>T	c.(208-210)Cga>Tga	p.R70*	TRIM36_ENST00000282369.3_Nonsense_Mutation_p.R82*|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	82						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGCCGAAGTCGAGGACTGCTT	0.453													17	72					0	0	0	0	A	114499269	G	A	114499269	4	1	122	1	0	0	0	0	0	1	0	0	16605	1066	37	1	1978	1	TRIM36	5	114499269	Nonsense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	35472308	114499269	66415991	66	23583											
PCDHA1	56147	broad.mit.edu	37	chr5	140167659	140167659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtggtggcgaaggtgcGcgcagtggacgccgactcgg	6	7	18	10	6	1	0	1	0	0	0	2	3	1	1	1	5	1	1	1	5	1	0			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:140167659G>A	ENST00000504120.2	+	1	1784	c.1784G>A	c.(1783-1785)cGc>cAc	p.R595H	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R595H	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAAGGTGCGCGCAGTGGAC	0.692													33	140					0	0	0	0	A	140167659	G	A	140167659	3	1	122	1	0	0	0	0	1	0	0	0	11590	1087	38	1	1786	1	PCDHA1	5	140167659	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	25668390	140167659	40747601	67	23584											
PCDHA3	56145	broad.mit.edu	37	chr5	140182393	140182393	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagttccaggtgagtgcGcgcgatgcgggcgtgccgcc	4	7	17	13	6	0	1	0	1	0	0	1	2	1	1	3	2	4	2	3	2	0	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:140182393G>A	ENST00000522353.2	+	1	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.A537A	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGTGCGCGCGATGCGG	0.667													58	189					0	0	0	0	A	140182393	G	A	140182393	2	1	122	1	0	0	0	0	0	0	0	1	11596	1074	38	1		1	PCDHA3	5	140182393	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	14734	140182393	40732867	68	23585											
PCDHA7	56141	broad.mit.edu	37	chr5	140214112	140214112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcaacttcgtgggccgcatCgcgcaggacctggggctgga	6	6	17	12	4	0	0	0	0	0	0	2	2	0	2	2	6	1	4	2	6	1	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:140214112C>G	ENST00000525929.1	+	1	144	c.144C>G	c.(142-144)atC>atG	p.I48M	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.I48M|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGCATCGCGCAGGACC	0.597													57	159					0	0	0	0	G	140214112	C	G	140214112	3	3	122	1	0	0	0	0	1	0	0	0	11600	874	31	3	146	3	PCDHA7	5	140214112	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	31719	140214112	40701148	69	23586											
GABRB2	2561	broad.mit.edu	37	chr5	160973365	160973365	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacgaatgtcatagcctttCaggagtctatccaccgtctc	10	11	8	12	2	4	1	2	0	2	1	6	3	5	2	3	1	1	0	3	1	3	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:160973365C>T	ENST00000274547.2	-	3	349	c.132G>A	c.(130-132)ctG>ctA	p.L44L	GABRB2_ENST00000393959.1_Silent_p.L44L|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Silent_p.L44L|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000520240.1_Silent_p.L44L	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	44					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CATAGCCTTTCAGGAGTCTAT	0.453													11	49					0	0	0	0	T	160973365	C	T	160973365	2	4	122	1	0	0	0	0	0	0	0	1	6215	813	29	2		2	GABRB2	5	160973365	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	20759253	160973365	19941895	70	23587											
HLA-B	3106	broad.mit.edu	37	chr6	31323370	31323370	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgtgtgtctttggggggtCtgatgggaagagtcagaaaa	10	10	16	5	1	3	3	1	1	2	2	3	4	3	4	0	4	0	0	0	4	3	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:31323370C>T	ENST00000412585.2	-	4	648		c.e4-1			NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TTTGGGGGGTCTGATGGGAAG	0.577									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				34	145					0	0	0	0	T	31323370	C	T	31323370	5	4	122	1	0	0	0	0	0	0	1	0	7246	927	32	2	485	2	HLA-B	6	31323370	Splice_Site	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08		31323370	139791697	71	23588											
TNXB	7148	broad.mit.edu	37	chr6	32023946	32023946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggctgggggtctcttcctCtgcagctgagaaaaggagat	8	9	16	8	0	2	2	0	1	2	2	4	4	3	2	1	5	2	3	1	5	2	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:32023946C>T	ENST00000375244.3	-	24	8350	c.8149G>A	c.(8149-8151)Gag>Aag	p.E2717K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2717K			P22105	TENX_HUMAN	tenascin XB	2775	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTCTCTTCCTCTGCAGCTGAG	0.612													10	45					0	0	0	0	T	32023946	C	T	32023946	3	4	122	1	0	0	0	0	1	0	0	0	16440	922	32	2	6648	2	TNXB	6	32023946	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	700576	32023946	139091121	72	23589											
BYSL	705	broad.mit.edu	37	chr6	41897915	41897915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaagctgactgagaagcaGacagaggttgagacagtcat	15	6	14	6	0	1	6	1	3	0	5	1	9	1	6	0	1	2	3	0	1	2	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:41897915G>A	ENST00000230340.4	+	3	852	c.477G>A	c.(475-477)caG>caA	p.Q159Q		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	159					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGAGAAGCAGACAGAGGTTG	0.602													10	85					0	0	0	0	A	41897915	G	A	41897915	2	1	122	1	0	0	0	0	0	0	0	1	1585	933	33	2		2	BYSL	6	41897915	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	9873969	41897915	129217152	73	23590											
GPR111	222611	broad.mit.edu	37	chr6	47649593	47649593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaattgtttacctctttctCaattcttatgtcacctcaca	10	17	2	12	0	5	0	3	0	3	0	6	0	5	0	2	0	1	1	2	0	4	6			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:47649593C>T	ENST00000398742.2	+	5	1143	c.1094C>T	c.(1093-1095)tCa>tTa	p.S365L	GPR111_ENST00000296862.1_Missense_Mutation_p.S433L|GPR111_ENST00000507065.1_Missense_Mutation_p.S365L			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	433					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACCTCTTTCTCAATTCTTATG	0.438													14	101					0	0	0	0	T	47649593	C	T	47649593	3	4	122	1	0	0	0	0	1	0	0	0	6677	838	29	2	1112	2	GPR111	6	47649593	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	5751678	47649593	123465474	74	23591											
BAG2	9532	broad.mit.edu	37	chr6	57048881	57048881	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaagagaagattagagactCtgcttagaaatattgaaaac	18	11	8	4	0	1	5	0	1	1	4	1	7	1	5	0	0	2	1	0	0	8	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:57048881C>G	ENST00000370693.5	+	3	901	c.529C>G	c.(529-531)Ctg>Gtg	p.L177V	BAG2_ENST00000545080.1_Missense_Mutation_p.L144V	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	177	BAG.				apoptosis|protein folding		protein binding			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATTAGAGACTCTGCTTAGAAA	0.393													14	50					0	0	0	0	G	57048881	C	G	57048881	3	3	122	1	0	0	0	0	1	0	0	0	1291	912	32	2	539	2	BAG2	6	57048881	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	9399288	57048881	114066186	75	23592											
PHF3	23469	broad.mit.edu	37	chr6	64416676	64416676	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctggctcgattgaacttCatctggaaaggttttatcaa	10	16	8	7	1	4	1	2	1	2	0	5	3	4	2	0	3	1	2	0	3	4	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:64416676C>T	ENST00000262043.3	+	13	3961	c.3621C>T	c.(3619-3621)ttC>ttT	p.F1207F	PHF3_ENST00000393387.1_Silent_p.F1207F			Q92576	PHF3_HUMAN	PHD finger protein 3	1207					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GATTGAACTTCATCTGGAAAG	0.413													14	57					0	0	0	0	T	64416676	C	T	64416676	2	4	122	1	0	0	0	0	0	0	0	1	11908	825	29	2		2	PHF3	6	64416676	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	7367795	64416676	106698391	76	23593											
OOEP	441161	broad.mit.edu	37	chr6	74078584	74078584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaaggtgtttcatcttctCagctggaagagaagcagttg	10	12	11	8	0	4	1	3	0	2	1	5	3	4	2	0	2	2	4	0	2	3	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:74078584C>T	ENST00000370363.1	-	4	700	c.208G>A	c.(208-210)Gag>Aag	p.E70K	OOEP_ENST00000370359.5_Missense_Mutation_p.E125K			A6NGQ2	OOEP_HUMAN	oocyte expressed protein	125	KH; atypical.					cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TTCATCTTCTCAGCTGGAAGA	0.483													7	31					0	0	0	0	T	74078584	C	T	74078584	3	4	122	1	0	0	0	0	1	0	0	0	10941	835	29	2	80	2	OOEP	6	74078584	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	9661908	74078584	97036483	77	23594											
DCBLD1	285761	broad.mit.edu	37	chr6	117866741	117866741	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgacacaaaagttagatctCatcacaagtgatatggcagg	16	9	9	7	0	2	3	2	2	1	1	3	3	2	3	0	2	0	2	0	2	5	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:117866741C>T	ENST00000338728.5	+	14	1716	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	DCBLD1_ENST00000368503.4_Silent_p.L333L|DCBLD1_ENST00000534777.1_3'UTR|DCBLD1_ENST00000296955.8_Silent_p.L532L|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	532					cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		AGTTAGATCTCATCACAAGTG	0.428													29	76					0	0	0	0	T	117866741	C	T	117866741	2	4	122	1	0	0	0	0	0	0	0	1	4312	813	29	2		2	DCBLD1	6	117866741	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	43788157	117866741	53248326	78	23595											
ARID1B	57492	broad.mit.edu	37	chr6	157150436	157150436	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaaccctcattctcagcctCagcagagcagtccgtaccca	10	8	7	16	1	3	1	3	0	1	1	5	1	4	1	4	0	5	4	4	0	2	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:157150436C>T	ENST00000346085.5	+	2	1619	c.1618C>T	c.(1618-1620)Cag>Tag	p.Q540*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q540*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q540*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q482*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	540					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTCTCAGCCTCAGCAGAGCAG	0.567													9	115					0	0	0	0	T	157150436	C	T	157150436	4	4	122	1	0	0	0	0	0	1	0	0	916	827	29	2	1624	2	ARID1B	6	157150436	Nonsense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	39283695	157150436	13964631	79	23596											
RNF216	54476	broad.mit.edu	37	chr7	5781327	5781327	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacactgaaaaatagctgctCttatctgattcaaatgctgc	13	12	6	10	0	3	2	1	2	2	0	3	2	3	2	0	0	4	3	0	0	5	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:5781327C>G	ENST00000389902.3	-	4	588	c.321G>C	c.(319-321)aaG>aaC	p.K107N	RNF216_ENST00000425013.2_Intron			Q9NWF9	RN216_HUMAN	ring finger protein 216	65					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AATAGCTGCTCTTATCTGATT	0.458													36	145					0	0	0	0	G	5781327	C	G	5781327	3	3	122	1	0	0	0	0	1	0	0	0	13565	912	32	2	2506	2	RNF216	7	5781327	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08		5781327	153357336	80	23597											
NXPH1	30010	broad.mit.edu	37	chr7	8791145	8791145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaccgtgattgatgccaaaGattccaagtcttttaattgt	13	14	7	7	1	1	3	0	2	1	1	2	3	2	3	3	0	2	0	3	0	4	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:8791145G>A	ENST00000405863.1	+	3	1473	c.562G>A	c.(562-564)Gat>Aat	p.D188N	NXPH1_ENST00000602349.1_Missense_Mutation_p.D71N|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	188	V (Cys-rich).					extracellular region		p.D188Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGATGCCAAAGATTCCAAGTC	0.413													6	32					0	0	0	0	A	8791145	G	A	8791145	3	1	122	1	0	0	0	0	1	0	0	0	10861	942	33	2	568	2	NXPH1	7	8791145	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	3009818	8791145	150347518	81	23598											
FERD3L	222894	broad.mit.edu	37	chr7	19184632	19184632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcagctggtcaaaggcctcGttgaggttgaacatccgctt	8	10	12	11	3	1	2	1	2	0	0	3	2	2	2	2	3	2	5	2	3	2	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:19184632G>A	ENST00000275461.3	-	1	412	c.354C>T	c.(352-354)aaC>aaT	p.N118N	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	118	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CAAAGGCCTCGTTGAGGTTGA	0.592													14	34					0	0	0	0	A	19184632	G	A	19184632	2	1	122	1	0	0	0	0	0	0	0	1	5861	1136	40	1		1	FERD3L	7	19184632	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	10393487	19184632	139954031	82	23599											
HOXA13	3209	broad.mit.edu	37	chr7	27237897	27237897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagattgtgacctgccgctCagagagattcgtcgtggctg	7	10	13	11	3	1	4	1	1	0	3	3	5	1	4	3	1	1	2	3	1	0	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:27237897C>T	ENST00000222753.4	-	2	1115	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K		NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	363					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						ACCTGCCGCTCAGAGAGATTC	0.413			T	NUP98	AML								62	211					0	0	0	0	T	27237897	C	T	27237897	3	4	122	1	0	0	0	0	1	0	0	0	7341	835	29	2	83	2	HOXA13	7	27237897	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	8053265	27237897	131900766	83	23600											
ANLN	54443	broad.mit.edu	37	chr7	36462273	36462273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacttttgattgatgaattGaataaattgaagaacgaagg	17	12	9	3	1	0	6	0	5	0	1	0	7	0	6	0	1	1	0	0	1	7	6			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:36462273G>A	ENST00000265748.2	+	14	2552	c.2331G>A	c.(2329-2331)ttG>ttA	p.L777L	ANLN_ENST00000396068.2_Silent_p.L740L	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	777	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTGATGAATTGAATAAATTGA	0.348													14	61					0	0	0	0	A	36462273	G	A	36462273	2	1	122	1	0	0	0	0	0	0	0	1	693	1281	45	2		2	ANLN	7	36462273	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	9224376	36462273	122676390	84	23601											
STAG3L2	442582	broad.mit.edu	37	chr7	74300804	74300804	+	RNA	DEL	A	A	-																															gaacagctgtcttcatacttAaaaaaaaaaaaggatcacag																										TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													2	4	---	---	---	---					-	74300804	A	-	74300804	6	5	122	0	1	1	0	1	0	0	0	0	15335	377	13	0		0	STAG3L2	7	74300804	RNA	DEL	A	TCGA-CN-A63Y-01A-11D-A30E-08	37838531	74300804	84837859	85	23602											
STEAP2	261729	broad.mit.edu	37	chr7	89856755	89856755	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccatgttgcctacagcctCtgcttaccgatgagaaggtc	8	11	10	12	1	1	1	0	1	1	1	3	3	2	1	4	1	5	2	4	1	3	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:89856755C>G	ENST00000287908.3	+	3	1356	c.963C>G	c.(961-963)ctC>ctG	p.L321L	STEAP2_ENST00000402625.2_Silent_p.L321L|STEAP2_ENST00000394622.2_Silent_p.L321L|STEAP2_ENST00000394632.1_Silent_p.L321L|STEAP2_ENST00000394626.1_Silent_p.L321L|STEAP2_ENST00000394629.2_Silent_p.L321L|STEAP2_ENST00000394621.2_Silent_p.L321L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	321	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CCTACAGCCTCTGCTTACCGA	0.398													14	38					0	0	0	0	G	89856755	C	G	89856755	2	3	122	1	0	0	0	0	0	0	0	1	15368	900	32	2		2	STEAP2	7	89856755	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	15555951	89856755	69281908	86	23603											
EPHB4	2050	broad.mit.edu	37	chr7	100421502	100421502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgctgcacgtcacacacttCgtaggtgcgcacgctgtgct	7	9	11	14	5	1	0	1	0	0	0	2	0	1	0	0	1	3	6	0	1	1	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:100421502C>T	ENST00000358173.3	-	3	643	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	EPHB4_ENST00000360620.3_Missense_Mutation_p.E59K|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	59					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCACACACTTCGTAGGTGCGC	0.682													8	23					0	0	0	0	T	100421502	C	T	100421502	3	4	122	1	0	0	0	0	1	0	0	0	5215	893	31	1	2848	1	EPHB4	7	100421502	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	10564747	100421502	58717161	87	23604											
ORAI2	80228	broad.mit.edu	37	chr7	102087373	102087373	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgggcctcatcttcgtggtCttcaccatccacttctaccg	5	13	8	15	2	5	0	2	0	3	0	7	0	6	0	4	2	1	0	4	2	1	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:102087373C>G	ENST00000356387.2	+	4	874	c.639C>G	c.(637-639)gtC>gtG	p.V213V	ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Silent_p.V213V|ORAI2_ENST00000478730.1_Silent_p.V213V|ORAI2_ENST00000473939.1_Silent_p.V213V	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	213						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						TCTTCGTGGTCTTCACCATCC	0.662													4	38					0	0	0	0	G	102087373	C	G	102087373	2	3	122	1	0	0	0	0	0	0	0	1	11329	900	32	2		2	ORAI2	7	102087373	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	1665871	102087373	57051290	88	23605											
TMEM168	64418	broad.mit.edu	37	chr7	112407287	112407287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgaagccttgtcctgtgtCcagcacagtaggaagaaacc	11	10	10	10	0	0	2	0	1	0	1	2	3	2	3	4	1	3	2	4	1	4	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:112407287C>T	ENST00000312814.5	-	5	2619	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	TMEM168_ENST00000454074.1_Missense_Mutation_p.D687N	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	687						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TGTCCTGTGTCCAGCACAGTA	0.378													14	47					0	0	0	0	T	112407287	C	T	112407287	3	4	122	1	0	0	0	0	1	0	0	0	16177	855	30	2	38	2	TMEM168	7	112407287	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	10319914	112407287	46731376	89	23606											
C7orf60	154743	broad.mit.edu	37	chr7	112555465	112555465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaagagtttcttcatcCtcacagtgttctcgccagat	10	13	6	12	1	5	2	3	0	2	2	7	2	6	2	2	0	0	2	2	0	1	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:112555465C>G	ENST00000297145.4	-	2	363	c.198G>C	c.(196-198)gaG>gaC	p.E66D	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	66										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TTTCTTCATCCTCACAGTGTT	0.363													12	65					0	0	0	0	G	112555465	C	G	112555465	3	3	122	1	0	0	0	0	1	0	0	0	2430	680	24	4	1035	4	C7orf60	7	112555465	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	148178	112555465	46583198	90	23607											
SMO	6608	broad.mit.edu	37	chr7	128851608	128851608	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtcacccctgtggcaactCcaggtatgagagttcaagct	9	10	10	12	0	2	1	2	1	0	1	3	2	3	1	3	2	2	4	3	2	3	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:128851608C>A	ENST00000249373.3	+	11	2213	c.1933C>A	c.(1933-1935)Cca>Aca	p.P645T	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	645					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGTGGCAACTCCAGGTATGAG	0.597			Mis		skin basal cell								12	54					7.03913e-09	7.2497e-09	1	0	A	128851608	C	A	128851608	3	1	122	1	0	0	0	0	1	0	0	0	14888	855	30	2	1975	2	SMO	7	128851608	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	16296143	128851608	30287055	91	23608											
BRAF	673	broad.mit.edu	37	chr7	140453155	140453155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgtagctagaccaaaatCacctatttttactgtgaggt	12	13	7	9	0	1	2	1	1	0	1	1	2	1	2	2	1	2	2	2	1	6	6			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:140453155C>T	ENST00000288602.6	-	15	1840	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	594	Protein kinase.		D -> G (in NHL).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.D594N(9)|p.D594H(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AGACCAAAATCACCTATTTTT	0.378		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				14	57					0	0	0	0	T	140453155	C	T	140453155	3	4	122	1	0	0	0	0	1	0	0	0	1504	826	29	2	536	2	BRAF	7	140453155	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	11601547	140453155	18685508	92	23609											
OR9A2	135924	broad.mit.edu	37	chr7	142724130	142724130	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcactaaatagaagaaaaaGaatatagcaaaaagaatgtg	23	7	8	3	0	1	4	1	0	0	4	1	4	1	4	0	0	1	1	0	0	12	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:142724130G>A	ENST00000350513.2	-	1	152	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AGAAGAAAAAGAATATAGCAA	0.433													21	92					0	0	0	0	A	142724130	G	A	142724130	2	1	122	1	0	0	0	0	0	0	0	1	11319	933	33	2		2	OR9A2	7	142724130	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	2270975	142724130	16414533	93	23610											
SLC4A2	6522	broad.mit.edu	37	chr7	150773105	150773105	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtctccgccccccaggtccgGaccctccgtatgcacctgtt	4	9	9	19	3	1	0	0	0	1	0	4	1	3	1	8	2	1	3	8	2	1	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:150773105G>A	ENST00000485713.1	+	22	4517	c.3477G>A	c.(3475-3477)cgG>cgA	p.R1159R	SLC4A2_ENST00000392826.2_Silent_p.R1150R|SLC4A2_ENST00000310317.5_Silent_p.R1077R|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Silent_p.R1145R|SLC4A2_ENST00000413384.2_Silent_p.R1159R	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1159	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			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)		CCCAGGTCCGGACCCTCCGTA	0.652													16	62					0	0	0	0	A	150773105	G	A	150773105	2	1	122	1	0	0	0	0	0	0	0	1	14742	1161	41	2		2	SLC4A2	7	150773105	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	8048975	150773105	8365558	94	23611											
DEFB136	613210	broad.mit.edu	37	chr8	11832092	11832092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggaaaaagagtaatgcaGaaagacagaggttcatggcc	17	5	12	7	0	1	4	1	0	0	4	1	5	1	5	2	3	1	3	2	3	4	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr8:11832092G>C	ENST00000382209.2	-	1	16	c.17C>G	c.(16-18)tCt>tGt	p.S6C		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	6					defense response to bacterium	extracellular region				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GAGTAATGCAGAAAGACAGAG	0.507													31	134					0	0	0	0	C	11832092	G	C	11832092	3	2	122	1	0	0	0	0	1	0	0	0	4457	942	33	2	225	2	DEFB136	8	11832092	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08		11832092	134531930	95	23612											
VPS13B	157680	broad.mit.edu	37	chr8	100523670	100523670	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatcccgcaatttacctttGatttatgtcaacacaagtgt	12	14	5	10	1	1	1	1	1	0	0	2	1	2	1	2	0	2	1	2	0	5	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr8:100523670G>A	ENST00000358544.2	+	29	4749	c.4638G>A	c.(4636-4638)ttG>ttA	p.L1546L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L1521L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1546					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTTACCTTTGATTTATGTCA	0.358													9	21					0	0	0	0	A	100523670	G	A	100523670	2	1	122	1	0	0	0	0	0	0	0	1	17286	1281	45	2		2	VPS13B	8	100523670	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	88691578	100523670	45840352	96	23613											
NOV	4856	broad.mit.edu	37	chr8	120429126	120429126	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagcgtggcgagagctgctCagatctggagccatgcgacg	8	6	15	12	4	2	2	1	0	1	2	2	5	2	3	2	2	5	2	2	2	0	0			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr8:120429126C>G	ENST00000259526.3	+	2	454	c.227C>G	c.(226-228)tCa>tGa	p.S76*		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	76	IGFBP N-terminal.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGAGCTGCTCAGATCTGGAG	0.682											OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	33					0	0	0	0	G	120429126	C	G	120429126	4	3	122	1	0	0	0	0	0	1	0	0	10623	838	29	2	233	2	NOV	8	120429126	Nonsense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	19905456	120429126	25934896	97	23614											
TRIB1	10221	broad.mit.edu	37	chr8	126445713	126445713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacatgcactcctatgtgcGaagccggaagaggctgcggg	9	6	16	10	3	0	1	0	0	0	1	1	4	1	3	2	4	4	2	2	4	3	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr8:126445713G>A	ENST00000311922.3	+	2	1097	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000520847.1_Missense_Mutation_p.R6Q	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	172	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TCCTATGTGCGAAGCCGGAAG	0.577													5	191					0	0	0	0	A	126445713	G	A	126445713	3	1	122	1	0	0	0	0	1	0	0	0	16577	1058	37	1	521	1	TRIB1	8	126445713	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	6016587	126445713	19918309	98	23615											
COL22A1	169044	broad.mit.edu	37	chr8	139845345	139845345	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactctgagctccattctctCtcttccccaagatttccttc	7	15	3	16	0	3	2	0	1	3	1	9	2	6	2	4	0	2	1	4	0	2	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr8:139845345C>G	ENST00000303045.6	-	5	1228	c.782G>C	c.(781-783)aGa>aCa	p.R261T	COL22A1_ENST00000435777.1_Missense_Mutation_p.R261T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	261	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCATTCTCTCTCTTCCCCAA	0.483										HNSCC(7;0.00092)			21	86					0	0	0	0	G	139845345	C	G	139845345	3	3	122	1	0	0	0	0	1	0	0	0	3711	913	32	2	4342	2	COL22A1	8	139845345	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	13399632	139845345	6518677	99	23616											
TMEM215	401498	broad.mit.edu	37	chr9	32784684	32784684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggacggctactgcccctCgggcagttccctcacctaca	6	8	9	18	2	1	0	1	0	0	0	3	1	2	1	5	3	3	3	5	3	2	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:32784684C>T	ENST00000342743.5	+	2	868	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	168						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TACTGCCCCTCGGGCAGTTCC	0.587													11	44					0	0	0	0	T	32784684	C	T	32784684	3	4	122	1	0	0	0	0	1	0	0	0	16232	893	31	1	505	1	TMEM215	9	32784684	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08		32784684	108428747	100	23617											
DCAF12	25853	broad.mit.edu	37	chr9	34107496	34107496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agccctgctgggtcacacctCcaggctcccggtctttcaga	6	9	10	16	1	3	1	2	0	1	1	5	1	5	1	4	3	2	2	4	3	0	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:34107496C>G	ENST00000361264.4	-	3	742	c.401G>C	c.(400-402)gGa>gCa	p.G134A	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	134						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GGTCACACCTCCAGGCTCCCG	0.502													15	60					0	0	0	0	G	34107496	C	G	34107496	3	3	122	1	0	0	0	0	1	0	0	0	4296	855	30	2	988	2	DCAF12	9	34107496	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	1322812	34107496	107105935	101	23618											
PCSK5	5125	broad.mit.edu	37	chr9	78936474	78936474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgccaggaaaactgccccGagaggcacgtggctgtgaag	10	6	15	10	2	0	2	0	1	0	1	0	4	0	3	3	3	3	2	3	3	3	0			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:78936474G>A	ENST00000545128.1	+	30	4478	c.3940G>A	c.(3940-3942)Gag>Aag	p.E1314K		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	726					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAACTGCCCCGAGAGGCACGT	0.547													8	75					0	0	0	0	A	78936474	G	A	78936474	3	1	122	1	0	0	0	0	1	0	0	0	11674	1073	37	1		1	PCSK5	9	78936474	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	44828978	78936474	62276957	102	23619											
TLE1	7088	broad.mit.edu	37	chr9	84226773	84226773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaaactggcgtaggcagCgcctgggctggtcagctcgc	6	8	16	11	3	1	0	1	0	0	0	2	0	1	0	1	4	3	5	1	4	3	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:84226773C>T	ENST00000376499.3	-	13	2229	c.1165G>A	c.(1165-1167)Gct>Act	p.A389T	TLE1_ENST00000376484.1_Missense_Mutation_p.A64T|TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_Missense_Mutation_p.A64T	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	389	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCGTAGGCAGCGCCTGGGCTG	0.687													15	64					0	0	0	0	T	84226773	C	T	84226773	3	4	122	1	0	0	0	0	1	0	0	0	16032	768	27	1	1179	1	TLE1	9	84226773	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	5290299	84226773	56986658	103	23620											
MORN5	254956	broad.mit.edu	37	chr9	124929130	124929130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggcatgtttcacggcgaggGaaccctgtacttccccagcg	7	9	12	13	3	1	0	1	0	0	0	2	2	2	1	3	3	3	3	3	3	2	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:124929130G>A	ENST00000536616.1	+	2	169	c.131G>A	c.(130-132)gGa>gAa	p.G44E	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.G44E			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	44										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						CACGGCGAGGGAACCCTGTAC	0.527													8	33					0	0	0	0	A	124929130	G	A	124929130	3	1	122	1	0	0	0	0	1	0	0	0	9781	1174	41	2	137	2	MORN5	9	124929130	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	40702357	124929130	16284301	104	23621											
ZBTB26	57684	broad.mit.edu	37	chr9	125682207	125682207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaaggagatctgatctttCagacattttggcagacctaa	12	12	10	7	0	3	5	1	2	2	3	3	6	3	5	1	2	0	1	1	2	2	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:125682207C>G	ENST00000373656.3	-	2	80	c.7G>C	c.(7-9)Gaa>Caa	p.E3Q	ZBTB26_ENST00000373654.1_Missense_Mutation_p.E3Q	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TCTGATCTTTCAGACATTTTG	0.303													4	24					0	0	0	0	G	125682207	C	G	125682207	3	3	122	1	0	0	0	0	1	0	0	0	17628	835	29	2	1322	2	ZBTB26	9	125682207	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	753077	125682207	15531224	105	23622											
NTNG2	84628	broad.mit.edu	37	chr9	135102294	135102294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgagggcagcctgcagtgcGagtgcgagcacaacaccacc	10	3	14	14	3	0	0	0	0	0	0	0	3	0	0	3	1	6	3	3	1	1	0			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:135102294G>A	ENST00000393229.3	+	4	1692	c.916G>A	c.(916-918)Gag>Aag	p.E306K	NTNG2_ENST00000372179.3_Missense_Mutation_p.E306K|NTNG2_ENST00000393228.4_Missense_Mutation_p.E306K|NTNG2_ENST00000360670.3_Missense_Mutation_p.E306K	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	306	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCTGCAGTGCGAGTGCGAGCA	0.657													7	18					0	0	0	0	A	135102294	G	A	135102294	3	1	122	1	0	0	0	0	1	0	0	0	10776	1059	37	1	926	1	NTNG2	9	135102294	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	9420087	135102294	6111137	106	23623											
ARHGAP21	57584	broad.mit.edu	37	chr10	24874616	24874616	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcaaggtgggaggacttCtgtgccagaagtgacctggg	8	10	15	8	0	3	2	1	1	2	1	3	4	3	4	2	4	1	0	2	4	2	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr10:24874616C>T	ENST00000396432.2	-	26	5088	c.4602G>A	c.(4600-4602)caG>caA	p.Q1534Q		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1533					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGGAGGACTTCTGTGCCAGAA	0.522													6	194					0	0	0	0	T	24874616	C	T	24874616	2	4	122	1	0	0	0	0	0	0	0	1	873	912	32	2		2	ARHGAP21	10	24874616	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08		24874616	110660131	107	23624											
LDB3	11155	broad.mit.edu	37	chr10	88459051	88459051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acagggaaaggtttgaaacgGaacgtaacagcccacgtttt	14	8	11	8	3	0	1	0	1	0	0	0	3	0	3	1	3	4	3	1	3	4	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr10:88459051G>A	ENST00000372056.4	+	8	1140	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	LDB3_ENST00000429277.2_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000310944.6_Missense_Mutation_p.E305K|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000372066.3_Missense_Mutation_p.E258K|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000352360.5_Intron	NM_001171611.1	NP_001165082.1	O75112	LDB3_HUMAN	LIM domain binding 3	0						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GTTTGAAACGGAACGTAACAG	0.483													41	164					0	0	0	0	A	88459051	G	A	88459051	3	1	122	1	0	0	0	0	1	0	0	0	8750	1175	41	2	1174	2	LDB3	10	88459051	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	63584435	88459051	47075696	108	23625											
DNMBP	23268	broad.mit.edu	37	chr10	101639929	101639929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcttctggcaagaccccGaggtaaaggatacagccatg	11	7	12	11	1	1	1	0	0	1	1	1	3	1	2	3	3	3	4	3	3	4	3	rs148968752		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr10:101639929G>A	ENST00000342239.3	-	16	4350	c.4259C>T	c.(4258-4260)tCg>tTg	p.S1420L	DNMBP_ENST00000324109.4_Missense_Mutation_p.S1396L|DNMBP_ENST00000543621.1_Missense_Mutation_p.S642L|DNMBP_ENST00000540316.1_Missense_Mutation_p.S332L			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1396	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCAAGACCCCGAGGTAAAGGA	0.557													46	188					0	0	0	0	A	101639929	G	A	101639929	3	1	122	1	0	0	0	0	1	0	0	0	4710	1059	37	1	554	1	DNMBP	10	101639929	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	13180878	101639929	33894818	109	23626											
RIC8A	60626	broad.mit.edu	37	chr11	212415	212415	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacagagaatcctctacaGacacacaggctgaaggagag	15	5	12	9	0	1	5	0	2	1	3	2	7	2	5	1	2	1	1	1	2	3	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr11:212415G>A	ENST00000526104.1	+	6	2313		c.e6-1		RIC8A_ENST00000527696.1_Splice_Site|RIC8A_ENST00000325207.5_Splice_Site			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A							cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCCTCTACAGACACACAGGC	0.572													4	20					0	0	0	0	A	212415	G	A	212415	5	1	122	1	0	0	0	0	0	0	1	0	13438	956	33	2	991	2	RIC8A	11	212415	Splice_Site	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08		212415	134794101	110	23627											
DEAF1	10522	broad.mit.edu	37	chr11	687913	687913	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagtggcagtcctcacctGagccgagcctgttcttgtac	7	11	11	12	1	2	2	1	2	1	0	3	3	3	2	4	1	3	3	4	1	2	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr11:687913G>C	ENST00000382409.3	-	4	1146	c.662C>G	c.(661-663)tCa>tGa	p.S221*	DEAF1_ENST00000338675.6_Nonsense_Mutation_p.S221*	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	221	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GTCCTCACCTGAGCCGAGCCT	0.517													10	51					0	0	0	0	C	687913	G	C	687913	4	2	122	1	0	0	0	0	0	1	0	0	4412	1294	45	2	1071	2	DEAF1	11	687913	Nonsense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	475498	687913	134318603	111	23628											
HIPK3	10114	broad.mit.edu	37	chr11	33308479	33308479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctaccacaggatcaaaacaGaattgtaccactggagaagg	16	6	10	9	0	1	2	1	0	0	2	1	4	1	3	2	3	3	2	2	3	6	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr11:33308479G>A	ENST00000303296.4	+	2	824	c.519G>A	c.(517-519)caG>caA	p.Q173Q	HIPK3_ENST00000525975.1_Silent_p.Q173Q|HIPK3_ENST00000456517.1_Silent_p.Q173Q|HIPK3_ENST00000379016.3_Silent_p.Q173Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	173					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GATCAAAACAGAATTGTACCA	0.418													19	51					0	0	0	0	A	33308479	G	A	33308479	2	1	122	1	0	0	0	0	0	0	0	1	7168	933	33	2		2	HIPK3	11	33308479	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	32620566	33308479	101698037	112	23629											
SSSCA1	10534	broad.mit.edu	37	chr11	65338432	65338432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgactcagacgtggataaaGataatcccggtaagagtaaa	16	8	10	7	3	1	3	1	0	0	3	3	5	2	4	1	2	0	2	1	2	6	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr11:65338432G>A	ENST00000531405.1	+	2	372	c.136G>A	c.(136-138)Gat>Aat	p.D46N	SSSCA1_ENST00000527920.1_Missense_Mutation_p.D46N|SSSCA1_ENST00000309328.3_Missense_Mutation_p.D83N|SSSCA1_ENST00000526877.1_Silent_p.K77K			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	83					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CGTGGATAAAGATAATCCCGG	0.522													11	29					0	0	0	0	A	65338432	G	A	65338432	3	1	122	1	0	0	0	0	1	0	0	0	15285	942	33	2	257	2	SSSCA1	11	65338432	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	32029953	65338432	69668084	113	23630											
ABCG4	64137	broad.mit.edu	37	chr11	119031274	119031274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttgtgggcccagttacCgccatccctgtcctcttgtt	4	15	8	14	1	1	0	0	0	1	0	3	0	3	0	5	1	1	2	5	1	1	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr11:119031274C>T	ENST00000307417.3	+	14	1987	c.1623C>T	c.(1621-1623)acC>acT	p.T541T	ABCG4_ENST00000531739.1_Silent_p.T541T|ABCG4_ENST00000449422.2_Silent_p.T541T	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	541	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCCCAGTTACCGCCATCCCTG	0.567													6	338					0	0	0	0	T	119031274	C	T	119031274	2	4	122	1	0	0	0	0	0	0	0	1	70	639	23	1		1	ABCG4	11	119031274	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	53692842	119031274	15975242	114	23631											
GAPDH	2597	broad.mit.edu	37	chr12	6646377	6646377	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgacaacagcctcaagatCatcaggtgaggaaggcaggg	14	6	13	8	0	3	3	3	2	0	1	3	4	3	4	1	4	2	1	1	4	4	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:6646377C>A	ENST00000229239.5	+	6	1104	c.438C>A	c.(436-438)atC>atA	p.I146I	GAPDH_ENST00000396856.1_Silent_p.I71I|GAPDH_ENST00000396861.1_Silent_p.I146I|GAPDH_ENST00000396859.1_Silent_p.I146I|GAPDH_ENST00000396858.1_Silent_p.I104I	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	146	Interaction with WARS.				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	GCCTCAAGATCATCAGGTGAG	0.592													6	47					0.00307968	0.00310545	1	0	A	6646377	C	A	6646377	2	1	122	1	0	0	0	0	0	0	0	1	6285	816	29	2		2	GAPDH	12	6646377	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08		6646377	127205518	115	23632											
C3AR1	719	broad.mit.edu	37	chr12	8212398	8212398	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcgatgattctgacaccaGattggcttgaataccacaag	12	11	9	9	1	1	4	0	3	1	1	1	5	1	4	2	1	2	1	2	1	3	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:8212398G>A	ENST00000307637.4	-	2	587	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	128					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TCTGACACCAGATTGGCTTGA	0.502													16	82					0	0	0	0	A	8212398	G	A	8212398	2	1	122	1	0	0	0	0	0	0	0	1	2225	932	33	2		2	C3AR1	12	8212398	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	1566021	8212398	125639497	116	23633											
RERGL	79785	broad.mit.edu	37	chr12	18234143	18234143	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactaaacagatttccttctCtttccaaatacattattgat	13	17	2	9	0	1	2	0	1	1	1	4	2	3	2	2	0	3	0	2	0	6	8			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:18234143C>G	ENST00000229002.2	-	6	806	c.600G>C	c.(598-600)aaG>aaC	p.K200N	RERGL_ENST00000538724.1_Missense_Mutation_p.K199N	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	200	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						ATTTCCTTCTCTTTCCAAATA	0.338													13	21					0	0	0	0	G	18234143	C	G	18234143	3	3	122	1	0	0	0	0	1	0	0	0	13315	912	32	2	21	2	RERGL	12	18234143	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	10021745	18234143	115617752	117	23634											
FGFR1OP2	26127	broad.mit.edu	37	chr12	27116343	27116343	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagccattgaaattgaCgagcaacagggttgcaagga	16	6	13	6	1	0	2	0	2	0	0	0	5	0	4	1	3	4	3	1	3	4	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:27116343C>T	ENST00000229395.3	+	6	921	c.579C>T	c.(577-579)gaC>gaT	p.D193D	FGFR1OP2_ENST00000327214.5_Silent_p.D155D	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	193						cytoplasm				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					TTGAAATTGACGAGCAACAGG	0.388													10	40					0	0	0	0	T	27116343	C	T	27116343	2	4	122	1	0	0	0	0	0	0	0	1	5910	535	19	1		1	FGFR1OP2	12	27116343	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	8882200	27116343	106735552	118	23635											
KIF21A	55605	broad.mit.edu	37	chr12	39756911	39756911	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgcatacctattacccccGagggaatcctgtagtagtct	10	12	8	11	1	1	0	0	0	1	0	2	2	2	1	4	1	3	3	4	1	7	6			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:39756911G>A	ENST00000395670.3	-	7	1427	c.1008C>T	c.(1006-1008)ctC>ctT	p.L336L	KIF21A_ENST00000544797.2_Silent_p.L336L|KIF21A_ENST00000541463.2_Silent_p.L336L|KIF21A_ENST00000361961.3_Silent_p.L336L|KIF21A_ENST00000361418.5_Silent_p.L336L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	336					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L336L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TATTACCCCCGAGGGAATCCT	0.378													19	73					0	0	0	0	A	39756911	G	A	39756911	2	1	122	1	0	0	0	0	0	0	0	1	8339	1045	37	1		1	KIF21A	12	39756911	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	12640568	39756911	94094984	119	23636											
CACNB3	784	broad.mit.edu	37	chr12	49219232	49219232	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaggtcacagacatgatgCagaaggctctcttcgacttc	10	9	9	13	1	2	3	1	1	1	2	5	4	2	3	1	2	1	2	1	2	1	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:49219232C>T	ENST00000301050.2	+	8	788	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	CACNB3_ENST00000547392.1_Nonsense_Mutation_p.Q170*|CACNB3_ENST00000536187.2_Nonsense_Mutation_p.Q196*|CACNB3_ENST00000540990.1_Nonsense_Mutation_p.Q184*|CACNB3_ENST00000547230.1_Nonsense_Mutation_p.Q156*	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	197					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	AGACATGATGCAGAAGGCTCT	0.567													4	119					0	0	0	0	T	49219232	C	T	49219232	4	4	122	1	0	0	0	0	0	1	0	0	2579	711	25	4	619	4	CACNB3	12	49219232	Nonsense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	9462321	49219232	84632663	120	23637											
RARG	5916	broad.mit.edu	37	chr12	53621202	53621202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccccggaagctagggCtcagcatctcgaaaggcgga	10	4	14	13	3	2	0	1	0	1	0	3	3	2	2	3	5	2	3	3	5	3	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:53621202C>A	ENST00000425354.2	-	3	615	c.128G>T	c.(127-129)aGc>aTc	p.S43I	RARG_ENST00000394426.1_Missense_Mutation_p.S43I|RARG_ENST00000327550.3_Intron|RARG_ENST00000543762.1_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	43	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GAAGCTAGGGCTCAGCATCTC	0.632													14	55					6.72482e-11	6.9857e-11	1	0	A	53621202	C	A	53621202	3	1	122	1	0	0	0	0	1	0	0	0	13136	797	28	4	1423	4	RARG	12	53621202	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	4401970	53621202	80230693	121	23638											
LACRT	90070	broad.mit.edu	37	chr12	55026033	55026033	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagagacttactcagggggTttagttcctgcctgcttgag	8	12	12	9	0	1	2	1	1	0	1	2	3	2	2	2	2	3	3	2	2	2	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:55026033T>C	ENST00000257867.4	-	3	298	c.245A>G	c.(244-246)aAc>aGc	p.N82S	LACRT_ENST00000547511.1_Missense_Mutation_p.N82S	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	82					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						ACTCAGGGGGTTTAGTTCCTG	0.557													21	75					0	0	0	0	C	55026033	T	C	55026033	3	2	122	1	0	0	0	0	1	0	0	0	8649	1725	60	5	183	5	LACRT	12	55026033	Missense_Mutation	SNP	T	TCGA-CN-A63Y-01A-11D-A30E-08	1404831	55026033	78825862	122	23639											
SUOX	6821	broad.mit.edu	37	chr12	56397864	56397864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctggatccagacacctatCgcttacacgtagtaggagca	12	8	9	12	2	0	1	0	0	0	1	2	3	1	3	3	2	2	4	3	2	4	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:56397864C>T	ENST00000394109.3	+	3	1415	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	SUOX_ENST00000548274.1_Missense_Mutation_p.R231C|SUOX_ENST00000394115.2_Missense_Mutation_p.R231C|SUOX_ENST00000356124.4_Missense_Mutation_p.R231C|SUOX_ENST00000266971.3_Missense_Mutation_p.R231C|SUOX_ENST00000551841.2_Intron			P51687	SUOX_HUMAN	sulfite oxidase	231	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			AGACACCTATCGCTTACACGT	0.532													6	71					0	0	0	0	T	56397864	C	T	56397864	3	4	122	1	0	0	0	0	1	0	0	0	15485	884	31	1	701	1	SUOX	12	56397864	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	1371831	56397864	77454031	123	23640											
SHMT2	6472	broad.mit.edu	37	chr12	57626558	57626558	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctggtggctgccaaggtGattccctcgcctttcaagca	6	10	12	13	1	1	1	1	1	0	0	3	1	2	1	4	4	2	2	4	4	2	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:57626558G>A	ENST00000328923.3	+	7	1241	c.789G>A	c.(787-789)gtG>gtA	p.V263V	SHMT2_ENST00000393827.4_Silent_p.V167V|SHMT2_ENST00000414700.3_Silent_p.V242V|SHMT2_ENST00000449049.3_Silent_p.V242V|SHMT2_ENST00000557487.1_Silent_p.V253V|SHMT2_ENST00000553474.1_Silent_p.V242V	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	263						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGCCAAGGTGATTCCCTCGC	0.602													17	54					0	0	0	0	A	57626558	G	A	57626558	2	1	122	1	0	0	0	0	0	0	0	1	14374	1277	45	2		2	SHMT2	12	57626558	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	1228694	57626558	76225337	124	23641											
GRIP1	23426	broad.mit.edu	37	chr12	66814548	66814548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgaaatgacgagggggtctCctggttttctactggatggt	7	13	14	7	1	2	2	0	2	2	0	3	4	2	3	1	5	1	1	1	5	2	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:66814548C>T	ENST00000359742.4	-	15	2030	c.1790G>A	c.(1789-1791)gGa>gAa	p.G597E	GRIP1_ENST00000398016.3_Missense_Mutation_p.G545E|GRIP1_ENST00000286445.7_Missense_Mutation_p.G597E			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	597	PDZ 5.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GAGGGGGTCTCCTGGTTTTCT	0.368													17	101					0	0	0	0	T	66814548	C	T	66814548	3	4	122	1	0	0	0	0	1	0	0	0	6837	855	30	2	1640	2	GRIP1	12	66814548	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	9187990	66814548	67037347	125	23642											
SLC35E3	55508	broad.mit.edu	37	chr12	69140553	69140553	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctccaccagaatccagctCacgctggtgagtagcttcag	9	10	9	13	1	3	2	2	1	1	1	5	2	4	2	3	1	2	4	3	1	2	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:69140553C>T	ENST00000398004.2	+	1	668	c.396C>T	c.(394-396)ctC>ctT	p.L132L		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	132						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GAATCCAGCTCACGCTGGTGA	0.582													31	126					0	0	0	0	T	69140553	C	T	69140553	2	4	122	1	0	0	0	0	0	0	0	1	14674	813	29	2		2	SLC35E3	12	69140553	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	2326005	69140553	64711342	126	23643											
HPD	3242	broad.mit.edu	37	chr12	122277703	122277703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgcaggttctgctcctcctcGaaagccttgaacagtgagtt	8	11	10	12	2	1	2	0	2	1	0	4	3	3	2	3	1	3	4	3	1	2	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:122277703G>C	ENST00000543163.1	-	15	1441	c.996C>G	c.(994-996)ttC>ttG	p.F332L	HPD_ENST00000289004.4_Missense_Mutation_p.F371L	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	371					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GCTCCTCCTCGAAAGCCTTGA	0.602													21	94					0	0	0	0	C	122277703	G	C	122277703	3	2	122	1	0	0	0	0	1	0	0	0	7382	1049	37	3	72	3	HPD	12	122277703	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	53137150	122277703	11574192	127	23644											
KNTC1	9735	broad.mit.edu	37	chr12	123082440	123082440	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagatggttcctttactgacGagcacaaaagatttggtcat	12	12	10	7	1	1	3	1	1	0	2	2	5	2	3	1	2	2	2	1	2	3	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:123082440G>A	ENST00000333479.7	+	44	4695	c.4518G>A	c.(4516-4518)acG>acA	p.T1506T	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1506			T -> M (in dbSNP:rs35315099).		cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTTTACTGACGAGCACAAAAG	0.502													18	84					0	0	0	0	A	123082440	G	A	123082440	2	1	122	1	0	0	0	0	0	0	0	1	8480	1045	37	1		1	KNTC1	12	123082440	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	804737	123082440	10769455	128	23645											
CHFR	55743	broad.mit.edu	37	chr12	133435802	133435802	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacaactgcccgttcaggtCaaggtccccatctacaggag	11	7	9	14	1	3	0	2	0	1	0	4	1	4	1	3	3	4	1	3	3	4	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:133435802C>G	ENST00000266880.7	-	8	862	c.799G>C	c.(799-801)Gac>Cac	p.D267H	CHFR_ENST00000315585.7_Missense_Mutation_p.D226H|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Missense_Mutation_p.D175H|CHFR_ENST00000432561.2_Missense_Mutation_p.D267H|CHFR_ENST00000450056.2_Missense_Mutation_p.D255H			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	267					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.D226N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CCGTTCAGGTCAAGGTCCCCA	0.552													25	115					0	0	0	0	G	133435802	C	G	133435802	3	3	122	1	0	0	0	0	1	0	0	0	3366	826	29	2	1239	2	CHFR	12	133435802	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	10353362	133435802	416093	129	23646											
SKA3	221150	broad.mit.edu	37	chr13	21742369	21742369	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggtagaacttgggatacGatgtaccgctcaagtccaaa	12	11	10	8	2	1	1	1	0	0	1	2	3	2	2	2	2	3	3	2	2	6	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:21742369G>A	ENST00000314759.5	-	4	625	c.501C>T	c.(499-501)atC>atT	p.I167I	SKA3_ENST00000400018.3_Silent_p.I167I	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	167					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTGGGATACGATGTACCGCT	0.438													37	123					0	0	0	0	A	21742369	G	A	21742369	2	1	122	1	0	0	0	0	0	0	0	1	14442	1048	37	1		1	SKA3	13	21742369	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08		21742369	93427509	130	23647											
FRY	10129	broad.mit.edu	37	chr13	32752454	32752454	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaaagacccctgggtcctCtgcctcttcagcttcctccg	5	11	8	17	1	4	1	2	0	2	1	7	1	7	1	6	1	2	1	6	1	1	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:32752454C>G	ENST00000380250.3	+	21	3058	c.2562C>G	c.(2560-2562)ctC>ctG	p.L854L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	854					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTGGGTCCTCTGCCTCTTCA	0.547													5	148					0	0	0	0	G	32752454	C	G	32752454	2	3	122	1	0	0	0	0	0	0	0	1	6111	900	32	2		2	FRY	13	32752454	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	11010085	32752454	82417424	131	23648											
POSTN	10631	broad.mit.edu	37	chr13	38160373	38160373	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagagtgtgaagtgaccGtctcttccaagggcctccaa	11	8	11	11	1	1	3	0	2	1	1	4	3	3	3	4	1	0	1	4	1	4	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:38160373G>A	ENST00000379747.4	-	7	915	c.798C>T	c.(796-798)gaC>gaT	p.D266D	POSTN_ENST00000379749.4_Silent_p.D266D|POSTN_ENST00000379743.4_Silent_p.D266D|POSTN_ENST00000541481.1_Silent_p.D266D|POSTN_ENST00000379742.4_Silent_p.D266D|POSTN_ENST00000541179.1_Silent_p.D266D	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	266	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGAAGTGACCGTCTCTTCCAA	0.458													18	64					0	0	0	0	A	38160373	G	A	38160373	2	1	122	1	0	0	0	0	0	0	0	1	12331	1136	40	1		1	POSTN	13	38160373	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	5407919	38160373	77009505	132	23649											
FREM2	341640	broad.mit.edu	37	chr13	39261962	39261962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgctatgacgcgcccGgaggggcagtagtgctacca	8	6	15	12	4	0	1	0	1	0	0	0	2	0	2	2	3	4	5	2	3	3	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:39261962G>A	ENST00000280481.7	+	1	697	c.481G>A	c.(481-483)Gga>Aga	p.G161R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	161					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGACGCGCCCGGAGGGGCAGT	0.667													5	15					0	0	0	0	A	39261962	G	A	39261962	3	1	122	1	0	0	0	0	1	0	0	0	6093	1117	39	1	483	1	FREM2	13	39261962	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	1101589	39261962	75907916	133	23650											
ENOX1	55068	broad.mit.edu	37	chr13	43930251	43930251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaaggcggcctgaatcCtttttgtcggtgctagaccc	8	11	11	11	2	0	3	0	2	0	1	2	3	1	3	3	3	1	1	3	3	3	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:43930251C>G	ENST00000261488.6	-	8	1204	c.627G>C	c.(625-627)aaG>aaC	p.K209N	ENOX1_ENST00000540032.1_Missense_Mutation_p.K22N|ENOX1_ENST00000412891.1_Missense_Mutation_p.K209N	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	209	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGCCTGAATCCTTTTTGTCGG	0.532													14	53					0	0	0	0	G	43930251	C	G	43930251	3	3	122	1	0	0	0	0	1	0	0	0	5164	680	24	4	1344	4	ENOX1	13	43930251	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	4668289	43930251	71239627	134	23651											
KLHL1	57626	broad.mit.edu	37	chr13	70514196	70514196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtagctgtgggccaccttCattaactcaatgcatccttg	8	13	9	11	0	2	0	2	0	0	0	3	0	3	0	3	1	3	3	3	1	3	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:70514196C>T	ENST00000377844.4	-	4	1749	c.990G>A	c.(988-990)atG>atA	p.M330I	KLHL1_ENST00000545028.1_Missense_Mutation_p.M137I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	330					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.M330I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGGCCACCTTCATTAACTCAA	0.413													7	34					0	0	0	0	T	70514196	C	T	70514196	3	4	122	1	0	0	0	0	1	0	0	0	8417	826	29	2	1288	2	KLHL1	13	70514196	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	26583945	70514196	44655682	135	23652											
DZIP1	22873	broad.mit.edu	37	chr13	96242575	96242575	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaattttacagctgacttGatgttcaaggaattctcgaa	12	14	7	8	1	3	2	2	2	1	0	4	4	3	3	0	1	2	2	0	1	5	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:96242575G>C	ENST00000347108.3	-	15	2233	c.1801C>G	c.(1801-1803)Caa>Gaa	p.Q601E	DZIP1_ENST00000361156.3_Missense_Mutation_p.Q582E|DZIP1_ENST00000376829.2_Missense_Mutation_p.Q601E|DZIP1_ENST00000361396.2_Missense_Mutation_p.Q582E			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	601					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CAGCTGACTTGATGTTCAAGG	0.348													17	99					0	0	0	0	C	96242575	G	C	96242575	3	2	122	1	0	0	0	0	1	0	0	0	4899	1299	45	2	830	2	DZIP1	13	96242575	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	25728379	96242575	18927303	136	23653											
IPO5	3843	broad.mit.edu	37	chr13	98655279	98655279	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcattccattatggtactGaagcttcaagaggtaagttt	11	14	9	7	0	1	2	1	1	0	1	2	2	2	2	1	2	3	5	1	2	5	6			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:98655279G>A	ENST00000261574.5	+	16	1719	c.1539G>A	c.(1537-1539)ctG>ctA	p.L513L	IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000490680.1_Silent_p.L495L|IPO5_ENST00000539640.1_Silent_p.L370L	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	495					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTATGGTACTGAAGCTTCAAG	0.398													21	180					0	0	0	0	A	98655279	G	A	98655279	2	1	122	1	0	0	0	0	0	0	0	1	7849	1277	45	2		2	IPO5	13	98655279	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	2412704	98655279	16514599	137	23654											
FOXG1	2290	broad.mit.edu	37	chr14	29237845	29237845	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccctcgaccctgccctgtGagtctttaagaccctctttg	5	12	7	17	1	2	2	0	1	2	1	3	3	2	2	5	0	1	0	5	0	1	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr14:29237845G>C	ENST00000382535.3	+	2	1729	c.1360G>C	c.(1360-1362)Gag>Cag	p.E454Q	FOXG1_ENST00000313071.4_Missense_Mutation_p.E454Q			P55316	FOXG1_HUMAN	forkhead box G1	454					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTGCCCTGTGAGTCTTTAAG	0.582													13	66					0	0	0	0	C	29237845	G	C	29237845	3	2	122	1	0	0	0	0	1	0	0	0	6054	1291	45	2	1362	2	FOXG1	14	29237845	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08		29237845	78111695	138	23655											
SRP54	6729	broad.mit.edu	37	chr14	35477865	35477865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccagaggaaaggttggaaGacctgtttaatatgtgcaga	14	10	12	5	0	0	3	0	0	0	3	0	5	0	5	2	3	2	3	2	3	5	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr14:35477865G>C	ENST00000556994.1	+	7	790	c.393G>C	c.(391-393)aaG>aaC	p.K131N	SRP54_ENST00000555557.1_Missense_Mutation_p.K67N|SRP54_ENST00000546080.1_Missense_Mutation_p.K82N|SRP54_ENST00000216774.6_Missense_Mutation_p.K131N			P61011	SRP54_HUMAN	signal recognition particle 54kDa	131	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		AAGGTTGGAAGACCTGTTTAA	0.269													8	40					0	0	0	0	C	35477865	G	C	35477865	3	2	122	1	0	0	0	0	1	0	0	0	15245	933	33	2	411	2	SRP54	14	35477865	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	6240020	35477865	71871675	139	23656											
C14orf182	283551	broad.mit.edu	37	chr14	50472359	50472359	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctactgagtggcaagaagacGaaatgtctgtgtcgtagaac	13	9	12	7	2	1	4	0	1	1	3	2	5	1	4	0	1	2	2	0	1	6	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr14:50472359G>A	ENST00000399206.1	-	1	1879	c.159C>T	c.(157-159)ttC>ttT	p.F53F	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	53										large_intestine(2)|urinary_tract(1)	3						GCAAGAAGACGAAATGTCTGT	0.532													37	174					0	0	0	0	A	50472359	G	A	50472359	2	1	122	1	0	0	0	0	0	0	0	1	1777	1049	37	1		1	C14orf182	14	50472359	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	14994494	50472359	56877181	140	23657											
KIAA0586	9786	broad.mit.edu	37	chr14	58932576	58932576	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaggtaaagtcaataagaAcacagactgacttctatgca	17	9	7	8	0	2	3	1	1	1	2	2	3	2	3	0	1	2	2	0	1	7	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr14:58932576A>C	ENST00000423743.3	+	16	2209	c.1951A>C	c.(1951-1953)Aca>Cca	p.T651P	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.T748P|KIAA0586_ENST00000261244.5_Missense_Mutation_p.T619P|KIAA0586_ENST00000556134.1_Missense_Mutation_p.T680P	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	619										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCAATAAGAACACAGACTGA	0.333													14	52					0	0	0	0	C	58932576	A	C	58932576	3	2	122	1	0	0	0	0	1	0	0	0	8237	43	2	5	1909	5	KIAA0586	14	58932576	Missense_Mutation	SNP	A	TCGA-CN-A63Y-01A-11D-A30E-08	8460217	58932576	48416964	141	23658											
SERPINA6	866	broad.mit.edu	37	chr14	94776138	94776138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgcagcgatgactgtgttCatcttccccttgtccggaag	7	12	11	11	2	2	1	1	1	1	0	4	3	4	2	3	1	2	2	3	1	1	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr14:94776138C>T	ENST00000341584.3	-	3	965	c.819G>A	c.(817-819)atG>atA	p.M273I		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	273					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGACTGTGTTCATCTTCCCCT	0.542													27	87					0	0	0	0	T	94776138	C	T	94776138	3	4	122	1	0	0	0	0	1	0	0	0	14180	826	29	2	410	2	SERPINA6	14	94776138	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	35843562	94776138	12573402	142	23659											
CCNK	8812	broad.mit.edu	37	chr14	99961945	99961945	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaaatgatgtacaatttggCcagtttggagatgacccaaa	14	12	9	6	0	0	3	0	2	0	1	0	4	0	3	2	2	1	2	2	2	5	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr14:99961945C>T	ENST00000389879.5	+	4	513	c.390C>T	c.(388-390)ggC>ggT	p.G130G	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Silent_p.G130G	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	130					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				TACAATTTGGCCAGTTTGGAG	0.383													4	112					0	0	0	0	T	99961945	C	T	99961945	2	4	122	1	0	0	0	0	0	0	0	1	2959	726	26	4		4	CCNK	14	99961945	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	5185807	99961945	7387595	143	23660											
TUBGCP4	27229	broad.mit.edu	37	chr15	43668716	43668716	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaggatcaccatccatctCaacagggccaaggtgggtta	11	9	10	11	0	3	0	3	0	1	0	5	1	4	1	3	4	1	1	3	4	3	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr15:43668716C>T	ENST00000564079.1	+	3	463	c.223C>T	c.(223-225)Caa>Taa	p.Q75*	TUBGCP4_ENST00000570081.1_3'UTR|TUBGCP4_ENST00000260383.7_Nonsense_Mutation_p.Q75*	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	75					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CCATCCATCTCAACAGGGCCA	0.473											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	68					0	0	0	0	T	43668716	C	T	43668716	4	4	122	1	0	0	0	0	0	1	0	0	16864	827	29	2	233	2	TUBGCP4	15	43668716	Nonsense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08		43668716	58862676	144	23661											
ZNF609	23060	broad.mit.edu	37	chr15	64968080	64968080	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagtacgaagaacagcaGaaacgccagagcttagagca	17	3	11	10	2	0	4	0	0	0	4	0	5	0	4	1	0	7	5	1	0	5	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr15:64968080G>A	ENST00000326648.3	+	4	3155	c.3027G>A	c.(3025-3027)caG>caA	p.Q1009Q		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1009						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGAACAGCAGAAACGCCAGA	0.562													39	148					0	0	0	0	A	64968080	G	A	64968080	2	1	122	1	0	0	0	0	0	0	0	1	18130	933	33	2		2	ZNF609	15	64968080	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	21299364	64968080	37563312	145	23662											
MYO9A	4649	broad.mit.edu	37	chr15	72338247	72338247	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcatgataagctacatCagccacagcataaatgtggg	14	8	10	9	0	1	1	1	1	0	0	1	1	1	1	1	2	4	3	1	2	4	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr15:72338247C>A	ENST00000356056.5	-	2	1130	c.658G>T	c.(658-660)Gat>Tat	p.D220Y	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.D220Y|MYO9A_ENST00000444904.1_Missense_Mutation_p.D220Y|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.D220Y	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	220	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TAAGCTACATCAGCCACAGCA	0.403													22	59					7.41877e-09	7.60819e-09	1	0	A	72338247	C	A	72338247	3	1	122	1	0	0	0	0	1	0	0	0	10154	826	29	2	7152	2	MYO9A	15	72338247	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	7370167	72338247	30193145	146	23663											
PCSK6	5046	broad.mit.edu	37	chr15	101872144	101872144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagctctggggctgagagctCcagcatccgcgagcgggact	7	6	15	13	3	1	1	0	1	1	1	3	4	3	2	2	3	4	4	2	3	0	0			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr15:101872144C>G	ENST00000348070.1	-	15	1947	c.1948G>C	c.(1948-1950)Gag>Cag	p.E650Q	PCSK6_ENST00000358417.3_Missense_Mutation_p.E650Q|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	651					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTGAGAGCTCCAGCATCCGC	0.572													6	31					0	0	0	0	G	101872144	C	G	101872144	3	3	122	1	0	0	0	0	1	0	0	0	11675	864	30	2	1223	2	PCSK6	15	101872144	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	29533897	101872144	659248	147	23664											
CLCN7	1186	broad.mit.edu	37	chr16	1501640	1501640	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacctggcgggtcgtggaaGaggctcaccacgctcttctc	7	8	12	14	3	3	1	1	0	2	1	5	2	3	2	2	4	0	2	2	4	1	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:1501640G>A	ENST00000382745.4	-	16	2036	c.1431C>T	c.(1429-1431)ctC>ctT	p.L477L	CLCN7_ENST00000448525.1_Silent_p.L453L|CLCN7_ENST00000262318.8_Silent_p.L453L	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	477						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GGTCGTGGAAGAGGCTCACCA	0.637													4	28					0	0	0	0	A	1501640	G	A	1501640	2	1	122	1	0	0	0	0	0	0	0	1	3498	929	33	2		2	CLCN7	16	1501640	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08		1501640	88853113	148	23665											
TBC1D24	57465	broad.mit.edu	37	chr16	2550908	2550908	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccctctgctccgagaacttCctcattgctgccgtggaggc	5	10	10	16	2	2	1	1	0	1	1	4	3	4	2	5	2	4	2	5	2	1	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:2550908C>T	ENST00000567020.1	+	7	1751	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F	TBC1D24_ENST00000293970.5_Silent_p.F543F|TBC1D24_ENST00000434757.2_Silent_p.F543F|RP11-20I23.1_ENST00000564543.1_Intron	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	543	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCGAGAACTTCCTCATTGCTG	0.672											OREG0023552	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	44					0	0	0	0	T	2550908	C	T	2550908	2	4	122	1	0	0	0	0	0	0	0	1	15705	854	30	2		2	TBC1D24	16	2550908	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	1049268	2550908	87803845	149	23666											
SRRM2	23524	broad.mit.edu	37	chr16	2815912	2815912	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagataggtctggatcttctCagtcaacctctcggcgaaga	10	10	11	10	2	5	2	2	0	4	2	7	5	5	3	1	3	1	0	1	3	3	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:2815912C>T	ENST00000301740.8	+	11	5932	c.5383C>T	c.(5383-5385)Cag>Tag	p.Q1795*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1795	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGGATCTTCTCAGTCAACCTC	0.602													20	58					0	0	0	0	T	2815912	C	T	2815912	4	4	122	1	0	0	0	0	0	1	0	0	15259	827	29	2	5421	2	SRRM2	16	2815912	Nonsense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	265004	2815912	87538841	150	23667											
DNASE1	1773	broad.mit.edu	37	chr16	3707065	3707065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcagtagccgagatcgacGctctctatgacgtctacctg	9	9	10	13	5	2	2	0	1	2	1	4	4	2	2	2	0	2	3	2	0	3	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:3707065G>A	ENST00000246949.5	+	6	3711	c.502G>A	c.(502-504)Gct>Act	p.A168T	DNASE1_ENST00000407479.1_Missense_Mutation_p.A168T|DNASE1_ENST00000414110.2_Intron	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	168					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	CGAGATCGACGCTCTCTATGA	0.642													11	46					0	0	0	0	A	3707065	G	A	3707065	3	1	122	1	0	0	0	0	1	0	0	0	4696	1087	38	1	520	1	DNASE1	16	3707065	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	891153	3707065	86647688	151	23668											
MKL2	57496	broad.mit.edu	37	chr16	14340402	14340402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaccggacctcattgagCgcctaaaaccctaccaggaa	14	5	7	15	2	1	1	1	1	0	0	1	3	1	3	6	2	4	0	6	2	5	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:14340402C>T	ENST00000571589.1	+	12	1457	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	MKL2_ENST00000574045.1_Missense_Mutation_p.R429C|MKL2_ENST00000318282.5_Missense_Mutation_p.R429C|MKL2_ENST00000341243.5_Missense_Mutation_p.R418C	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	418					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTCATTGAGCGCCTAAAACC	0.517													14	57					0	0	0	0	T	14340402	C	T	14340402	3	4	122	1	0	0	0	0	1	0	0	0	9671	768	27	1	1323	1	MKL2	16	14340402	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	10633337	14340402	76014351	152	23669											
DNAH3	55567	broad.mit.edu	37	chr16	20975195	20975195	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agattcagttcctcgctcttCgtgctgtgggtcaaggaatg	7	13	12	9	2	3	1	2	0	1	1	6	2	4	2	1	2	1	3	1	2	2	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:20975195C>T	ENST00000261383.3	-	53	10010	c.10011G>A	c.(10009-10011)acG>acA	p.T3337T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3337					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTCGCTCTTCGTGCTGTGGG	0.478													37	104					0	0	0	0	T	20975195	C	T	20975195	2	4	122	1	0	0	0	0	0	0	0	1	4640	871	31	1		1	DNAH3	16	20975195	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	6634793	20975195	69379558	153	23670											
ATP2A1	487	broad.mit.edu	37	chr16	28900216	28900216	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagaccctgggctgcacctCtgtcatctgttccgacaaga	9	9	10	13	1	3	2	1	0	2	2	4	4	4	2	3	1	1	3	3	1	1	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:28900216C>G	ENST00000395503.4	+	9	1221	c.1037C>G	c.(1036-1038)tCt>tGt	p.S346C	ATP2A1_ENST00000357084.3_Missense_Mutation_p.S346C|ATP2A1_ENST00000536376.1_Missense_Mutation_p.S221C	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	346					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGCTGCACCTCTGTCATCTGT	0.592													58	215					0	0	0	0	G	28900216	C	G	28900216	3	3	122	1	0	0	0	0	1	0	0	0	1140	913	32	2	1071	2	ATP2A1	16	28900216	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	7925021	28900216	61454537	154	23671											
COG4	25839	broad.mit.edu	37	chr16	70557288	70557288	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccgcacctcctcgccgcaGagccgttcgtatacagcctc	6	7	8	20	5	0	1	0	0	0	1	4	1	1	1	7	0	3	4	7	0	2	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:70557288G>C	ENST00000323786.5	-	1	180	c.159C>G	c.(157-159)ctC>ctG	p.L53L	COG4_ENST00000393612.4_Silent_p.L49L|COG4_ENST00000564653.1_Silent_p.L53L	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	49	Interacts with SCFD1.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CCTCGCCGCAGAGCCGTTCGT	0.617													18	79					0	0	0	0	C	70557288	G	C	70557288	2	2	122	1	0	0	0	0	0	0	0	1	3690	929	33	2		2	COG4	16	70557288	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	41657072	70557288	19797465	155	23672											
ZFHX3	463	broad.mit.edu	37	chr16	72831514	72831514	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggattccccaggggtggcatCcctacactctcagtgggcac	7	8	12	14	0	1	0	1	0	1	0	4	1	3	1	3	5	1	2	3	5	1	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:72831514C>T	ENST00000268489.5	-	9	5739	c.5067G>A	c.(5065-5067)ggG>ggA	p.G1689G	ZFHX3_ENST00000397992.5_Silent_p.G775G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1689					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGGTGGCATCCCTACACTCT	0.527													17	104					0	0	0	0	T	72831514	C	T	72831514	2	4	122	1	0	0	0	0	0	0	0	1	17729	842	30	2		2	ZFHX3	16	72831514	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	2274226	72831514	17523239	156	23673											
C16orf3	750	broad.mit.edu	37	chr16	90095621	90095621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctacggggcaggctaCggggcaggcccttgcactgc	6	5	16	14	2	0	0	0	0	0	0	0	0	0	0	2	6	5	5	2	6	2	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:90095621C>T	ENST00000408886.2	-	1	688	c.130G>A	c.(130-132)Gta>Ata	p.V44I	GAS8_ENST00000540721.1_Intron|GAS8_ENST00000268699.4_Intron|GAS8_ENST00000536122.1_Intron	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN	chromosome 16 open reading frame 3	44										large_intestine(1)|lung(2)|prostate(1)	4		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		gggcaggctacggggcaggcC	0.672													16	44					0	0	0	0	T	90095621	C	T	90095621	3	4	122	1	0	0	0	0	1	0	0	0	1825	536	19	1	227	1	C16orf3	16	90095621	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	17264107	90095621	259132	157	23674											
RNMTL1	55178	broad.mit.edu	37	chr17	686360	686360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaagtccaggccatttcggGaaaaacaagggaagatcctg	15	7	11	8	1	0	1	0	0	0	1	3	3	2	3	3	3	1	0	3	3	6	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:686360G>A	ENST00000304478.4	+	2	458	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	118					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		GCCATTTCGGGAAAAACAAGG	0.423													16	71					0	0	0	0	A	686360	G	A	686360	3	1	122	1	0	0	0	0	1	0	0	0	13592	1175	41	2	358	2	RNMTL1	17	686360	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08		686360	80508850	158	23675											
PRPF8	10594	broad.mit.edu	37	chr17	1561562	1561562	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacctgccccaaacgcttCtgtcccgcccacacggacgt	7	7	7	20	4	2	0	1	0	1	0	3	1	3	1	5	1	2	1	5	1	1	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:1561562C>T	ENST00000572621.1	-	33	5755	c.5490G>A	c.(5488-5490)caG>caA	p.Q1830Q	PRPF8_ENST00000304992.6_Silent_p.Q1830Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1830	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCAAACGCTTCTGTCCCGCCC	0.493													15	65					0	0	0	0	T	1561562	C	T	1561562	2	4	122	1	0	0	0	0	0	0	0	1	12655	912	32	2		2	PRPF8	17	1561562	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	875202	1561562	79633648	159	23676											
NDEL1	81565	broad.mit.edu	37	chr17	8354194	8354194	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agactgtgaaaagatggactCcgccgtccaagcatcacttt	12	9	9	11	2	1	3	1	1	0	2	3	4	3	4	3	1	1	1	3	1	3	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:8354194C>G	ENST00000334527.7	+	6	820	c.623C>G	c.(622-624)tCc>tGc	p.S208C	NDEL1_ENST00000402554.3_Missense_Mutation_p.S208C|NDEL1_ENST00000299734.7_Missense_Mutation_p.S208C|NDEL1_ENST00000380025.4_Missense_Mutation_p.S208C|NDEL1_ENST00000585098.1_Intron	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	208	Interaction with CENPF.|Interaction with KATNA1 (By similarity).|Interaction with NEFL (By similarity).|Interaction with YWHAE (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						AAGATGGACTCCGCCGTCCAA	0.453													10	32					0	0	0	0	G	8354194	C	G	8354194	3	3	122	1	0	0	0	0	1	0	0	0	10314	855	30	2	641	2	NDEL1	17	8354194	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	6792632	8354194	72841016	160	23677											
TOM1L2	146691	broad.mit.edu	37	chr17	17783023	17783023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatgacttttgtgtttcctCgaacgacgtccagttcactc	8	14	7	12	3	1	1	1	1	0	0	5	3	3	1	2	0	1	2	2	0	1	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:17783023C>T	ENST00000581396.1	-	6	641	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	TOM1L2_ENST00000318094.10_Missense_Mutation_p.R187Q|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R187Q|TOM1L2_ENST00000542206.1_Missense_Mutation_p.R84Q|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R134Q|TOM1L2_ENST00000535933.1_Missense_Mutation_p.R179Q|TOM1L2_ENST00000379504.3_Missense_Mutation_p.R232Q	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	232					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TGTGTTTCCTCGAACGACGTC	0.507													26	102					0	0	0	0	T	17783023	C	T	17783023	3	4	122	1	0	0	0	0	1	0	0	0	16447	884	31	1	864	1	TOM1L2	17	17783023	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	9428829	17783023	63412187	161	23678											
SPAG5	10615	broad.mit.edu	37	chr17	26912913	26912913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgagagccatttcctctCtgtgccttgcctcctccctt	3	15	6	17	0	2	1	0	1	2	1	6	2	5	1	6	0	3	0	6	0	0	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:26912913C>T	ENST00000321765.5	-	7	2041	c.1709G>A	c.(1708-1710)aGa>aAa	p.R570K		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	570					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CATTTCCTCTCTGTGCCTTGC	0.502													50	215					0	0	0	0	T	26912913	C	T	26912913	3	4	122	1	0	0	0	0	1	0	0	0	15071	913	32	2	1944	2	SPAG5	17	26912913	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	9129890	26912913	54282297	162	23679											
NF1	4763	broad.mit.edu	37	chr17	29556273	29556273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggttctatgatttcagtGatgtcttcagagggaaacgc	11	12	12	6	1	4	3	2	2	2	1	4	4	4	4	0	2	1	1	0	2	3	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:29556273G>A	ENST00000358273.4	+	21	3023	c.2640G>A	c.(2638-2640)gtG>gtA	p.V880V	NF1_ENST00000356175.3_Silent_p.V880V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	880					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGATTTCAGTGATGTCTTCAG	0.483			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			33	99					0	0	0	0	A	29556273	G	A	29556273	2	1	122	1	0	0	0	0	0	0	0	1	10426	1277	45	2		2	NF1	17	29556273	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	2643360	29556273	51638937	163	23680											
CNTNAP1	8506	broad.mit.edu	37	chr17	40845455	40845455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggccactgtgcccaccctCggctcccctgtttccatgga	5	9	9	18	1	0	0	0	0	0	0	3	1	2	1	6	3	1	2	6	3	0	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:40845455C>T	ENST00000264638.4	+	18	3110	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	965	EGF-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGCCCACCCTCGGCTCCCCTG	0.612													26	108					0	0	0	0	T	40845455	C	T	40845455	3	4	122	1	0	0	0	0	1	0	0	0	3676	875	31	1	2963	1	CNTNAP1	17	40845455	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	11289182	40845455	40349755	164	23681											
SAMD14	201191	broad.mit.edu	37	chr17	48195580	48195580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggagctggcactgtccCgaagcctggagcgggatggc	6	5	17	13	4	0	0	0	0	0	0	1	4	1	3	3	5	3	2	3	5	1	0			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:48195580C>T	ENST00000330175.4	-	3	472	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.R52Q	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	52										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GGCACTGTCCCGAAGCCTGGA	0.642													26	87					0	0	0	0	T	48195580	C	T	48195580	3	4	122	1	0	0	0	0	1	0	0	0	13904	652	23	1	1218	1	SAMD14	17	48195580	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	7350125	48195580	32999630	165	23682											
SAMD14	201191	broad.mit.edu	37	chr17	48195607	48195607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagcgggatggccggtgtCtccggcccttggccaacagt	5	8	16	12	3	1	0	0	0	1	0	2	2	1	2	4	6	2	0	4	6	1	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:48195607C>T	ENST00000330175.4	-	3	445	c.128G>A	c.(127-129)aGa>aAa	p.R43K	SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.R43K	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	43										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TGGCCGGTGTCTCCGGCCCTT	0.657													24	76					0	0	0	0	T	48195607	C	T	48195607	3	4	122	1	0	0	0	0	1	0	0	0	13904	913	32	2	1245	2	SAMD14	17	48195607	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	27	48195607	32999603	166	23683											
ZNF750	79755	broad.mit.edu	37	chr17	80789724	80789725	+	Frame_Shift_Del	DEL	GA	GA	-																															ggctttccaggggtagccagGagtgtggaaggccgacttgg																										TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:80789724_80789725delGA	ENST00000269394.3	-	2	1439_1440	c.606_607delTC	c.(604-609)acctfs	p.TP202fs	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	202						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGGTAGCCAGGAGTGTGGAAGG	0.569													25	43	---	---	---	---					-	80789725	GA	-	80789724	7	5	122	1	0	1	0	1	0	0	0	0	18226	1174	41	0	1572	0	ZNF750	17	80789724	Frame_Shift_Del	DEL	GA	TCGA-CN-A63Y-01A-11D-A30E-08	32594117	80789724	405486	167	23684											
NAPG	8774	broad.mit.edu	37	chr18	10539865	10539865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catggctttggagcgagctgGaaagtgagtgtgagatggac	10	9	17	5	1	0	2	0	2	0	1	0	7	0	5	0	4	2	2	0	4	1	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr18:10539865G>A	ENST00000322897.6	+	6	434	c.365G>A	c.(364-366)gGa>gAa	p.G122E	NAPG_ENST00000542979.1_Missense_Mutation_p.G40E	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	122					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						GAGCGAGCTGGAAAGTGAGTG	0.443													12	49					0	0	0	0	A	10539865	G	A	10539865	3	1	122	1	0	0	0	0	1	0	0	0	10234	1174	41	2	387	2	NAPG	18	10539865	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08		10539865	67537383	168	23685											
ZNF521	25925	broad.mit.edu	37	chr18	22804669	22804669	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttggaacggaattctttGaggcaagatgcgcacttata	11	12	11	7	2	1	2	0	1	1	1	1	4	1	4	0	3	3	3	0	3	5	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr18:22804669G>C	ENST00000361524.3	-	4	3361	c.3213C>G	c.(3211-3213)ctC>ctG	p.L1071L	ZNF521_ENST00000538137.2_Silent_p.L1071L|ZNF521_ENST00000584787.1_Silent_p.L851L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1071					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.L1071L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGAATTCTTTGAGGCAAGATG	0.522			T	PAX5	ALL								21	65					0	0	0	0	C	22804669	G	C	22804669	2	2	122	1	0	0	0	0	0	0	0	1	18060	1277	45	2		2	ZNF521	18	22804669	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	12264804	22804669	55272579	169	23686											
PCSK4	54760	broad.mit.edu	37	chr19	1489887	1489887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtgaaagtactgcccgtCagggaagatctggggatgtg	10	8	16	7	1	2	2	1	1	1	1	2	4	2	4	1	4	2	1	1	4	3	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:1489887C>T	ENST00000300954.5	-	2	260	c.199G>A	c.(199-201)Gac>Aac	p.D67N	PCSK4_ENST00000587784.1_Intron	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	67					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)		TACTGCCCGTCAGGGAAGATC	0.667													3	12					0	0	0	0	T	1489887	C	T	1489887	3	4	122	1	0	0	0	0	1	0	0	0	11673	826	29	2	2124	2	PCSK4	19	1489887	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08		1489887	57639096	170	23687											
ADAMTS10	81794	broad.mit.edu	37	chr19	8657722	8657722	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtgatgcaccggttgctCttgctcagacaccacagctc	7	11	10	13	1	2	2	1	1	1	1	3	2	2	2	2	2	4	5	2	2	0	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:8657722C>G	ENST00000270328.4	-	12	1778	c.1512G>C	c.(1510-1512)aaG>aaC	p.K504N	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.K504N			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	504	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACCGGTTGCTCTTGCTCAGAC	0.716													3	29					0	0	0	0	G	8657722	C	G	8657722	3	3	122	1	0	0	0	0	1	0	0	0	256	912	32	2	1855	2	ADAMTS10	19	8657722	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	7167835	8657722	50471261	171	23688											
ZNF562	54811	broad.mit.edu	37	chr19	9764512	9764512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaactgttcactgaagacctCtccacaattctcacagagtt	13	11	5	12	0	3	3	2	1	2	2	5	3	3	3	2	0	1	2	2	0	3	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:9764512C>T	ENST00000448622.1	-	6	556	c.394G>A	c.(394-396)Gag>Aag	p.E132K	ZNF562_ENST00000293648.4_Missense_Mutation_p.E60K|ZNF562_ENST00000453372.2_Missense_Mutation_p.E132K|ZNF562_ENST00000587392.1_3'UTR|ZNF562_ENST00000590155.1_Missense_Mutation_p.E131K|ZNF562_ENST00000453792.2_Missense_Mutation_p.E63K|ZNF562_ENST00000541032.1_Missense_Mutation_p.E95K|ZNF562_ENST00000537617.1_Missense_Mutation_p.E16K	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						CTGAAGACCTCTCCACAATTC	0.403													15	74					0	0	0	0	T	9764512	C	T	9764512	3	4	122	1	0	0	0	0	1	0	0	0	18088	922	32	2	890	2	ZNF562	19	9764512	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	1106790	9764512	49364471	172	23689											
CACNA1A	773	broad.mit.edu	37	chr19	13346065	13346065	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagaagagcatggcgatCagcagacagacataaggcag	17	4	13	7	1	1	5	1	1	0	4	1	6	1	5	0	2	2	3	0	2	3	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:13346065C>T	ENST00000360228.5	-	33	5090	c.5091G>A	c.(5089-5091)ctG>ctA	p.L1697L	CACNA1A_ENST00000573710.2_Silent_p.L1698L|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1698					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCATGGCGATCAGCAGACAGA	0.562											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	17					0	0	0	0	T	13346065	C	T	13346065	2	4	122	1	0	0	0	0	0	0	0	1	2563	813	29	2		2	CACNA1A	19	13346065	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	3581553	13346065	45782918	173	23690											
ZNF43	7594	broad.mit.edu	37	chr19	21991719	21991719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctaaaagcttcaccacattCtgtacatttatagaatttct	13	15	4	9	0	3	1	1	0	2	1	3	1	3	1	1	0	2	3	1	0	6	8			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:21991719C>T	ENST00000594012.1	-	7	1616	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	ZNF43_ENST00000598381.1_Missense_Mutation_p.E368K|ZNF43_ENST00000595461.1_Missense_Mutation_p.E368K|ZNF43_ENST00000354959.4_Missense_Mutation_p.E374K	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCACCACATTCTGTACATTTA	0.368													13	67					0	0	0	0	T	21991719	C	T	21991719	3	4	122	1	0	0	0	0	1	0	0	0	17998	922	32	2	1313	2	ZNF43	19	21991719	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	8645654	21991719	37137264	174	23691											
RHPN2	85415	broad.mit.edu	37	chr19	33482768	33482768	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaagtgaacctgaacGggggcgttccctctcaaggt	9	8	13	11	2	1	2	1	2	1	0	4	3	3	3	3	4	2	1	3	4	4	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:33482768G>A	ENST00000254260.3	-	13	1640	c.1605C>T	c.(1603-1605)ccC>ccT	p.P535P	RHPN2_ENST00000400226.4_Silent_p.P384P	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	535	PDZ.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GAACCTGAACGGGGGCGTTCC	0.517													13	58					0	0	0	0	A	33482768	G	A	33482768	2	1	122	1	0	0	0	0	0	0	0	1	13434	1103	39	1		1	RHPN2	19	33482768	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	11491049	33482768	25646215	175	23692											
GRAMD1A	57655	broad.mit.edu	37	chr19	35501007	35501007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctcagattactcctgcGccctgcagcgtgagatcctg	6	10	9	16	2	1	2	1	1	1	2	4	3	3	2	4	0	4	1	4	0	1	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:35501007G>A	ENST00000599564.1	+	6	669	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.A113T|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.A106T|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.A113T			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	113						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTACTCCTGCGCCCTGCAGCG	0.652													5	142					0	0	0	0	A	35501007	G	A	35501007	3	1	122	1	0	0	0	0	1	0	0	0	6797	1087	38	1	355	1	GRAMD1A	19	35501007	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	2018239	35501007	23627976	176	23693											
SPINT2	10653	broad.mit.edu	37	chr19	38782595	38782595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtgccctgcgcaccgtctgGagctccggagatgacaagga	8	6	14	13	4	1	2	0	1	1	1	2	5	2	4	3	3	3	2	3	3	1	0			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:38782595G>T	ENST00000301244.7	+	7	1143	c.708G>T	c.(706-708)tgG>tgT	p.W236C	CTB-102L5.4_ENST00000591889.1_Intron|SPINT2_ENST00000454580.3_Missense_Mutation_p.W179C|SPINT2_ENST00000587090.1_Missense_Mutation_p.W186C	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	236					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCACCGTCTGGAGCTCCGGAG	0.602													10	27					3.07112e-06	3.13618e-06	1	0	T	38782595	G	T	38782595	3	4	122	1	0	0	0	0	1	0	0	0	15159	1183	41	2	734	2	SPINT2	19	38782595	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	3281588	38782595	20346388	177	23694											
PSG4	5672	broad.mit.edu	37	chr19	43699264	43699264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaatgaggatcctgttttCaatgggtcgctttaccctgg	8	14	11	8	1	1	2	1	1	0	1	3	3	2	3	2	3	1	2	2	3	4	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:43699264C>T	ENST00000405312.3	-	4	1108	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.E198K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	291	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATCCTGTTTTCAATGGGTCGC	0.473													55	306					0	0	0	0	T	43699264	C	T	43699264	3	4	122	1	0	0	0	0	1	0	0	0	12736	835	29	2	400	2	PSG4	19	43699264	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	4916669	43699264	15429719	178	23695											
PSG4	5672	broad.mit.edu	37	chr19	43699348	43699348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagttcttactcttaggttCacaggtgaaggttaagacat	11	14	10	6	0	3	2	1	1	2	1	3	2	3	2	0	3	1	4	0	3	5	6			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:43699348C>T	ENST00000405312.3	-	4	1024	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.E170K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	263	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTCTTAGGTTCACAGGTGAAG	0.453													63	255					0	0	0	0	T	43699348	C	T	43699348	3	4	122	1	0	0	0	0	1	0	0	0	12736	835	29	2	484	2	PSG4	19	43699348	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	84	43699348	15429635	179	23696											
PSG4	5672	broad.mit.edu	37	chr19	43702371	43702371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaggttaagatcacagcctCcatggcctccctgggattta	10	10	9	12	0	1	1	1	0	0	1	3	2	3	2	4	3	1	1	4	3	2	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:43702371C>T	ENST00000405312.3	-	3	724	c.487G>A	c.(487-489)Gag>Aag	p.E163K	PSG4_ENST00000244295.9_Missense_Mutation_p.E163K|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	163	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATCACAGCCTCCATGGCCTCC	0.547													67	263					0	0	0	0	T	43702371	C	T	43702371	3	4	122	1	0	0	0	0	1	0	0	0	12736	864	30	2	788	2	PSG4	19	43702371	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	3023	43702371	15426612	180	23697											
PPFIA3	8541	broad.mit.edu	37	chr19	49643235	49643235	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgagggcaccccagattCtctgcacaaagcccccaaga	12	5	9	15	0	1	3	0	1	1	2	2	3	1	3	4	1	2	2	4	1	2	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:49643235C>G	ENST00000334186.4	+	18	2607	c.2258C>G	c.(2257-2259)tCt>tGt	p.S753C	PPFIA3_ENST00000602351.1_Missense_Mutation_p.S753C	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	753						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ACCCCAGATTCTCTGCACAAA	0.562													34	99					0	0	0	0	G	49643235	C	G	49643235	3	3	122	1	0	0	0	0	1	0	0	0	12382	913	32	2	2324	2	PPFIA3	19	49643235	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	5940864	49643235	9485748	181	23698											
KCNC3	3748	broad.mit.edu	37	chr19	50831719	50831719	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgttggcggcgcccgcGgggtcgggcgcctcgaagga	3	4	21	13	9	0	0	0	0	0	0	2	2	0	1	2	7	0	1	2	7	1	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:50831719G>A	ENST00000376959.2	-	1	784	c.621C>T	c.(619-621)ccC>ccT	p.P207P	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Silent_p.P207P|KCNC3_ENST00000474951.1_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	207					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A208fs*116(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CGGCGCCCGCGGGGTCGGGCG	0.776													3	25					0	0	0	0	A	50831719	G	A	50831719	2	1	122	1	0	0	0	0	0	0	0	1	8069	1103	39	1		1	KCNC3	19	50831719	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	1188484	50831719	8297264	182	23699											
NR1H2	7376	broad.mit.edu	37	chr19	50881514	50881514	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggacaaggcctccggctTccactacaacgtgctcagct	8	8	11	14	2	1	0	1	0	0	0	3	1	3	1	3	4	4	3	3	4	3	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:50881514T>C	ENST00000253727.5	+	5	525	c.290T>C	c.(289-291)tTc>tCc	p.F97S	NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000598168.1_Missense_Mutation_p.F97S|NR1H2_ENST00000599105.1_Missense_Mutation_p.F97S|NR1H2_ENST00000593926.1_Missense_Mutation_p.F97S|NR1H2_ENST00000542413.1_5'UTR	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	97					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCCTCCGGCTTCCACTACAAC	0.657													58	258					0	0	0	0	C	50881514	T	C	50881514	3	2	122	1	0	0	0	0	1	0	0	0	10688	1783	62	5	300	5	NR1H2	19	50881514	Missense_Mutation	SNP	T	TCGA-CN-A63Y-01A-11D-A30E-08	49795	50881514	8247469	183	23700											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-																															cctttctgctccttcctccaTcctcctcctcctcctccagc																										TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													8	108	---	---	---	---					-	54675749	TCC	-	54675747	7	5	122	1	0	1	0	1	0	0	0	0	16081	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-CN-A63Y-01A-11D-A30E-08	3794233	54675747	4453236	184	23701											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704176	56704176	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaccagcatgtccaggatCtgctctttggtgtggaggtc	7	12	12	10	0	3	0	1	0	2	0	5	2	4	2	2	4	2	2	2	4	0	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:56704176C>T	ENST00000586855.2	-	2	559	c.246G>A	c.(244-246)caG>caA	p.Q82Q	ZSCAN5B_ENST00000358992.3_Silent_p.Q82Q			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	82	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTCCAGGATCTGCTCTTTGG	0.577													7	26					0	0	0	0	T	56704176	C	T	56704176	2	4	122	1	0	0	0	0	0	0	0	1	18330	912	32	2		2	ZSCAN5B	19	56704176	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	2028429	56704176	2424807	185	23702											
CSNK2A1	1457	broad.mit.edu	37	chr20	470429	470429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tataacatatattacctgatCataattgtcatgtccatgga	14	15	5	7	0	2	1	2	1	0	0	3	2	3	2	2	1	2	0	2	1	6	7			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr20:470429C>T	ENST00000217244.3	-	10	1093	c.718G>A	c.(718-720)Gat>Aat	p.D240N	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D240N|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D240N|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.D104N	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	240	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATTACCTGATCATAATTGTCA	0.398													5	38					0	0	0	0	T	470429	C	T	470429	3	4	122	1	0	0	0	0	1	0	0	0	3989	826	29	2	477	2	CSNK2A1	20	470429	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08		470429	62555091	186	23703											
DSN1	79980	broad.mit.edu	37	chr20	35381201	35381201	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcataaagtcactgacaaGatccagatccagatccatgt	14	10	6	11	0	2	4	2	1	1	3	6	4	5	4	3	0	0	0	3	0	3	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr20:35381201G>C	ENST00000426836.1	-	11	1433	c.1061C>G	c.(1060-1062)tCt>tGt	p.S354C	DSN1_ENST00000373740.3_Missense_Mutation_p.S282C|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373745.3_Missense_Mutation_p.S354C|DSN1_ENST00000373750.4_Missense_Mutation_p.S354C|DSN1_ENST00000373734.4_Missense_Mutation_p.S247C|DSN1_ENST00000448110.1_Missense_Mutation_p.S338C	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	354					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TCACTGACAAGATCCAGATCC	0.498													21	83					0	0	0	0	C	35381201	G	C	35381201	3	2	122	1	0	0	0	0	1	0	0	0	4816	942	33	2	13	2	DSN1	20	35381201	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	34910772	35381201	27644319	187	23704											
SLC32A1	140679	broad.mit.edu	37	chr20	37356388	37356388	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtggtgagtggcaacctCatgtacaacagcttcccggg	8	9	14	10	1	1	1	1	1	0	0	2	1	2	1	2	4	4	3	2	4	3	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr20:37356388C>T	ENST00000217420.1	+	2	947	c.684C>T	c.(682-684)ctC>ctT	p.L228L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	228					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GTGGCAACCTCATGTACAACA	0.617													16	50					0	0	0	0	T	37356388	C	T	37356388	2	4	122	1	0	0	0	0	0	0	0	1	14653	813	29	2		2	SLC32A1	20	37356388	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	1975187	37356388	25669132	188	23705											
HNF4A	3172	broad.mit.edu	37	chr20	43043163	43043163	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaagatcacctcccccgtctCcgggatcaacggcgacattc	9	7	9	16	4	3	1	2	0	1	1	6	4	4	2	4	2	1	0	4	2	2	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr20:43043163C>G	ENST00000316099.3	+	5	598	c.509C>G	c.(508-510)tCc>tGc	p.S170C	HNF4A_ENST00000415691.1_Missense_Mutation_p.S170C|HNF4A_ENST00000443598.2_Missense_Mutation_p.S170C|HNF4A_ENST00000457232.1_Missense_Mutation_p.S148C	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	170					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCCCCGTCTCCGGGATCAAC	0.597													22	64					0	0	0	0	G	43043163	C	G	43043163	3	3	122	1	0	0	0	0	1	0	0	0	7303	855	30	2	580	2	HNF4A	20	43043163	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	5686775	43043163	19982357	189	23706											
CDH4	1002	broad.mit.edu	37	chr20	60503417	60503417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccccaacatcggcccctaCgtcttcgagctgccctttgt	6	10	8	17	3	1	0	0	0	1	0	3	2	1	0	5	1	4	1	5	1	2	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr20:60503417C>T	ENST00000360469.5	+	12	2029	c.1941C>T	c.(1939-1941)taC>taT	p.Y647Y	CDH4_ENST00000543233.1_Silent_p.Y573Y	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	647	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding	p.Y647Y(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCGGCCCCTACGTCTTCGAGC	0.652													29	148					0	0	0	0	T	60503417	C	T	60503417	2	4	122	1	0	0	0	0	0	0	0	1	3141	547	19	1		1	CDH4	20	60503417	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	17460254	60503417	2522103	190	23707											
C21orf91	54149	broad.mit.edu	37	chr21	19169339	19169339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactttttgaaagcttagatCgaggacaaccctggtttgca	11	13	9	8	1	0	2	0	1	0	1	1	4	0	3	1	2	4	3	1	2	4	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr21:19169339C>T	ENST00000284881.4	-	3	314	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400558.3_Missense_Mutation_p.R75Q|C21orf91_ENST00000400559.3_Missense_Mutation_p.R75Q|C21orf91_ENST00000493464.1_5'UTR	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	75										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AAGCTTAGATCGAGGACAACC	0.363													11	56					0	0	0	0	T	19169339	C	T	19169339	3	4	122	1	0	0	0	0	1	0	0	0	2154	884	31	1	681	1	C21orf91	21	19169339	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08		19169339	28960556	191	23708											
CLIC6	54102	broad.mit.edu	37	chr21	36081714	36081714	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataattacttaaatagccctCtgcctgatgaaatagatgcc	14	12	6	9	0	1	3	0	2	1	1	1	3	1	3	3	0	4	0	3	0	7	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr21:36081714C>G	ENST00000360731.3	+	6	1831	c.1831C>G	c.(1831-1833)Ctg>Gtg	p.L611V	CLIC6_ENST00000349499.2_Missense_Mutation_p.L593V			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	611	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						AAATAGCCCTCTGCCTGATGA	0.468													5	64					0	0	0	0	G	36081714	C	G	36081714	3	3	122	1	0	0	0	0	1	0	0	0	3560	912	32	2	1795	2	CLIC6	21	36081714	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	16912375	36081714	12048181	192	23709											
DOPEY2	9980	broad.mit.edu	37	chr21	37603425	37603425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtgcaacgctcttccaGctgccaggtgagaggcagcc	7	8	12	14	1	2	1	0	1	2	1	3	2	3	1	3	2	5	4	3	2	1	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr21:37603425G>A	ENST00000399151.3	+	14	2428	c.2343G>A	c.(2341-2343)caG>caA	p.Q781Q		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	781					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGCTCTTCCAGCTGCCAGGTG	0.587													22	70					0	0	0	0	A	37603425	G	A	37603425	2	1	122	1	0	0	0	0	0	0	0	1	4744	962	34	4		4	DOPEY2	21	37603425	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	1521711	37603425	10526470	193	23710											
MAPK1	5594	broad.mit.edu	37	chr22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaacatgagctcttacctCgtcactcgggtcgtaatact	10	11	9	11	3	2	1	1	1	1	0	5	2	2	2	1	2	4	2	1	2	4	3			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K|MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478													14	61					0	0	0	0	T	22127164	C	T	22127164	3	4	122	1	0	0	0	0	1	0	0	0	9340	893	31	1	126	1	MAPK1	22	22127164	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08		22127164	29177402	194	23711											
HPS4	89781	broad.mit.edu	37	chr22	26860540	26860540	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttccccagggaggagctGaggccaagaacctcacccct	9	6	10	16	0	1	2	1	1	0	1	3	4	3	4	7	3	2	1	7	3	2	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr22:26860540G>A	ENST00000398145.2	-	11	1672	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	HPS4_ENST00000398141.1_Silent_p.L365L|HPS4_ENST00000336873.5_Silent_p.L352L|HPS4_ENST00000402105.3_Silent_p.L347L	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	352					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GGGAGGAGCTGAGGCCAAGAA	0.552									Hermansky-Pudlak syndrome				20	88					0	0	0	0	A	26860540	G	A	26860540	2	1	122	1	0	0	0	0	0	0	0	1	7391	1277	45	2		2	HPS4	22	26860540	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	4733376	26860540	24444026	195	23712											
LARGE	9215	broad.mit.edu	37	chr22	33700301	33700301	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgtgcttcatggccacGttgcgcagcaggttcacggg	6	10	14	11	3	2	1	2	1	0	0	2	1	2	1	1	3	3	5	1	3	0	3	rs113253213	byFrequency	TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr22:33700301G>A	ENST00000354992.2	-	13	2215	c.1644C>T	c.(1642-1644)aaC>aaT	p.N548N	LARGE_ENST00000397394.2_Silent_p.N548N|LARGE_ENST00000402320.1_Silent_p.N496N|LARGE_ENST00000337431.2_Silent_p.N496N|LARGE_ENST00000452586.2_Silent_p.N347N|LARGE_ENST00000437602.2_Silent_p.N548N	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	548					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCATGGCCACGTTGCGCAGCA	0.562													27	104					0	0	0	0	A	33700301	G	A	33700301	2	1	122	1	0	0	0	0	0	0	0	1	8680	1136	40	1		1	LARGE	22	33700301	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	6839761	33700301	17604265	196	23713											
ATF4	468	broad.mit.edu	37	chr22	39918485	39918485	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttactggtgagtgcaaaGagctggaaaagaagaacgag	15	7	13	6	1	1	4	0	1	1	3	1	6	1	5	0	2	4	2	0	2	6	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr22:39918485G>C	ENST00000337304.2	+	2	1816	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	ATF4_ENST00000404241.2_Missense_Mutation_p.E312Q|ATF4_ENST00000396680.1_Missense_Mutation_p.E312Q	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	312	Interaction with GABBR1 (By similarity).|Leucine-zipper.				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					TGAGTGCAAAGAGCTGGAAAA	0.502													9	24					0	0	0	0	C	39918485	G	C	39918485	3	2	122	1	0	0	0	0	1	0	0	0	1086	943	33	2	940	2	ATF4	22	39918485	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	6218184	39918485	11386081	197	23714											
NHP2L1	4809	broad.mit.edu	37	chr22	42070954	42070954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttagactaagagcctttCaatggactgctgaatggatt	11	13	11	6	0	1	3	1	1	0	2	1	5	1	5	1	3	2	2	1	3	4	5			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr22:42070954C>T	ENST00000401959.1	-	4	686	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	NHP2L1_ENST00000215956.5_Missense_Mutation_p.E124K|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000402458.1_Missense_Mutation_p.E128K|NHP2L1_ENST00000355257.3_Missense_Mutation_p.E124K	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	124					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						AAGAGCCTTTCAATGGACTGC	0.512													4	88					0	0	0	0	T	42070954	C	T	42070954	3	4	122	1	0	0	0	0	1	0	0	0	10480	835	29	2	20	2	NHP2L1	22	42070954	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	2152469	42070954	9233612	198	23715											
TUBGCP6	85378	broad.mit.edu	37	chr22	50662572	50662572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcccgggctgccctacctCgccttcctctccagctcctc	3	9	8	21	2	1	0	0	0	1	0	6	1	3	0	7	1	4	2	7	1	1	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr22:50662572C>T	ENST00000439308.2	-	13	2760	c.2268G>A	c.(2266-2268)gcG>gcA	p.A756A	TUBGCP6_ENST00000248846.5_Silent_p.A756A|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	756					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCCCTACCTCGCCTTCCTCT	0.577													9	44					0	0	0	0	T	50662572	C	T	50662572	2	4	122	1	0	0	0	0	0	0	0	1	16866	871	31	1		1	TUBGCP6	22	50662572	Silent	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	8591618	50662572	641994	199	23716											
PRRG1	5638	broad.mit.edu	37	chrX	37285149	37285149	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgctacccaagagctaatGggttttttgaagaaataaga	16	10	9	6	1	0	4	0	1	0	3	0	4	0	4	1	1	3	3	1	1	7	6			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chrX:37285149G>C	ENST00000542554.1	+	4	339	c.67G>C	c.(67-69)Ggg>Cgg	p.G23R	PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000463135.1_Missense_Mutation_p.G23R|PRRG1_ENST00000543642.1_Missense_Mutation_p.G23R|PRRG1_ENST00000449135.2_Missense_Mutation_p.G23R|PRRG1_ENST00000378628.4_Missense_Mutation_p.G23R|TM4SF2_ENST00000465127.1_Missense_Mutation_p.G23R	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	23	Gla.					extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AAGAGCTAATGGGTTTTTTGA	0.338													14	13					0	0	0	0	C	37285149	G	C	37285149	3	2	122	1	0	0	0	0	1	0	0	0	12684	1348	47	4	73	4	PRRG1	23	37285149	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08		37285149	117985411	200	23717											
HUWE1	10075	broad.mit.edu	37	chrX	53560286	53560286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttattaggccagcccaaagCcttcagagcactcctggata	11	9	8	13	0	1	1	1	0	0	1	2	2	2	2	4	2	3	1	4	2	4	4			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chrX:53560286C>T	ENST00000342160.3	-	83	13566	c.13109G>A	c.(13108-13110)gGc>gAc	p.G4370D	HUWE1_ENST00000262854.6_Missense_Mutation_p.G4370D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4370	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGCCCAAAGCCTTCAGAGCA	0.488													3	6					0	0	0	0	T	53560286	C	T	53560286	3	4	122	1	0	0	0	0	1	0	0	0	7514	739	26	4	19	4	HUWE1	23	53560286	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	16275137	53560286	101710274	201	23718											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698734	111698734	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaagggcctatacagctgCgagaaggccagctgcctctc	11	6	12	12	1	1	2	0	0	1	2	2	3	1	2	3	2	5	2	3	2	4	2	rs139116920	byFrequency	TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chrX:111698734C>T	ENST00000340433.2	+	1	1008	c.778C>T	c.(778-780)Cga>Tga	p.R260*		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	260							nucleic acid binding|zinc ion binding	p.R260G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TATACAGCTGCGAGAAGGCCA	0.552													47	114					0	0	0	0	T	111698734	C	T	111698734	4	4	122	1	0	0	0	0	0	1	0	0	17679	760	27	1	780	1	ZCCHC16	23	111698734	Nonsense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	58138448	111698734	43571826	202	23719											
MAGEC1	9947	broad.mit.edu	37	chrX	140996236	140996236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaagggcacctatgcctctGaggaggtcatctgggatgtg	9	10	14	8	0	3	1	1	1	2	0	3	3	3	3	2	4	1	1	2	4	3	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chrX:140996236G>A	ENST00000285879.4	+	4	3332	c.3046G>A	c.(3046-3048)Gag>Aag	p.E1016K	MAGEC1_ENST00000406005.2_Missense_Mutation_p.E83K	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1016	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTATGCCTCTGAGGAGGTCAT	0.547										HNSCC(15;0.026)			4	78					0	0	0	0	A	140996236	G	A	140996236	3	1	122	1	0	0	0	0	1	0	0	0	9249	1291	45	2	3052	2	MAGEC1	23	140996236	Missense_Mutation	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08	29297502	140996236	14274324	203	23720											
PNMA5	114824	broad.mit.edu	37	chrX	152159374	152159374	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaaagtggagactttctCtccaatcttcggagaggtct	10	11	11	9	1	3	2	0	0	3	2	6	5	4	3	1	4	0	0	1	4	2	2			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chrX:152159374C>G	ENST00000439251.1	-	2	1207	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	PNMA5_ENST00000361887.5_Missense_Mutation_p.E257Q|PNMA5_ENST00000535214.1_Missense_Mutation_p.E257Q|PNMA5_ENST00000452693.1_Missense_Mutation_p.E257Q	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	257					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GAGACTTTCTCTCCAATCTTC	0.522													32	67					0	0	0	0	G	152159374	C	G	152159374	3	3	122	1	0	0	0	0	1	0	0	0	12228	922	32	2	581	2	PNMA5	23	152159374	Missense_Mutation	SNP	C	TCGA-CN-A63Y-01A-11D-A30E-08	11163138	152159374	3111186	204	23721											
TBL1Y	90665	broad.mit.edu	37	chrY	6939823	6939823	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggccccatcttcgctctGaaatggaacaaaaaggggaa	16	6	10	9	1	2	1	0	1	2	0	3	3	2	3	2	4	1	1	2	4	6	1			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chrY:6939823G>A	ENST00000383032.1	+	12	1493	c.846G>A	c.(844-846)ctG>ctA	p.L282L	TBL1Y_ENST00000346432.3_Silent_p.L282L|TBL1Y_ENST00000355162.2_Silent_p.L282L	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	282					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TCTTCGCTCTGAAATGGAACA	0.388													7	16					0	0	0	0	A	6939823	G	A	6939823	2	1	122	1	0	0	0	0	0	0	0	1	15735	1277	45	2		2	TBL1Y	24	6939823	Silent	SNP	G	TCGA-CN-A63Y-01A-11D-A30E-08		6939823	52433743	205	23722											
TARDBP	23435	broad.mit.edu	37	chr1	11078818	11078818	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcttaagactggtcattCaaaggggtttggctttgttc	9	15	11	6	0	3	2	2	0	1	2	4	2	3	2	0	4	0	3	0	4	2	5			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:11078818C>G	ENST00000240185.3	+	4	545	c.431C>G	c.(430-432)tCa>tGa	p.S144*	TARDBP_ENST00000315091.3_Nonsense_Mutation_p.S144*|TARDBP_ENST00000439080.2_Nonsense_Mutation_p.S28*	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	144	RRM 1.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		ACTGGTCATTCAAAGGGGTTT	0.388													19	151					0	0	0	0	G	11078818	C	G	11078818	4	3	123	1	0	0	0	0	0	1	0	0	15648	838	29	2	441	2	TARDBP	1	11078818	Nonsense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08		11078818	238171803	1	23723											
COL9A2	1298	broad.mit.edu	37	chr1	40782793	40782793	+	Splice_Site	DEL	A	A	-																															gcggaggggctgcgaaacttAcaatctgcgccagagcgagc																										TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:40782793delA	ENST00000372748.3	-	1	172		c.e1+1			NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TGCGAAACTTACAATCTGCGC	0.682													2	4	---	---	---	---					-	40782793	A	-	40782793	8	5	123	1	0	1	0	1	0	0	1	0	3738	405	14	0	2120	0	COL9A2	1	40782793	Splice_Site	DEL	A	TCGA-CN-A640-01A-21D-A30E-08	29703975	40782793	208467828	2	23724											
NRD1	4898	broad.mit.edu	37	chr1	52260186	52260186	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagttggcatcacccttgttCagagctttcactttgcatag	8	14	9	10	0	3	1	3	0	0	1	3	2	3	1	1	1	2	5	1	1	1	6			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:52260186C>G	ENST00000354831.7	-	26	3126	c.2937G>C	c.(2935-2937)ctG>ctC	p.L979L	NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000352171.7_Silent_p.L911L|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000539524.1_Silent_p.L847L	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	910					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CACCCTTGTTCAGAGCTTTCA	0.547													46	318					0	0	0	0	G	52260186	C	G	52260186	2	3	123	1	0	0	0	0	0	0	0	1	10716	813	29	2		2	NRD1	1	52260186	Silent	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	11477393	52260186	196990435	3	23725											
C1orf173	127254	broad.mit.edu	37	chr1	75038152	75038153	+	Frame_Shift_Ins	INS	-	-	T																															cttgagtgcatttgcccttgINStcacctcttctctctcagag																										TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:75038152_75038153insT	ENST00000326665.5	-	14	3459_3460	c.3241_3242insA	c.(3241-3243)aagfs	p.K1081fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1081	Glu-rich.									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						ATTTGCCCTTGTCACCTCTTCT	0.421													15	211	---	---	---	---					T	75038153	-	T	75038152	7	5	123	1	0	1	1	0	0	0	0	0	2033	1377	48	0	1354	0	C1orf173	1	75038152	Frame_Shift_Ins	INS	-	TCGA-CN-A640-01A-21D-A30E-08	22777966	75038152	174212469	4	23726											
VCAM1	7412	broad.mit.edu	37	chr1	101188642	101188642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggaagccgatcacagtcaAgtgttcagttgctgatgtat	10	12	12	7	1	3	1	3	1	0	0	3	3	3	2	1	1	2	4	1	1	3	3			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:101188642A>G	ENST00000294728.2	+	3	508	c.407A>G	c.(406-408)aAg>aGg	p.K136R	VCAM1_ENST00000370115.1_Missense_Mutation_p.K136R|VCAM1_ENST00000347652.2_Missense_Mutation_p.K136R|VCAM1_ENST00000370119.4_Missense_Mutation_p.K74R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	136	Ig-like C2-type 2.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ATCACAGTCAAGTGTTCAGTT	0.458													5	50					0	0	0	0	G	101188642	A	G	101188642	3	3	123	1	0	0	0	0	1	0	0	0	17233	72	3	5	417	5	VCAM1	1	101188642	Missense_Mutation	SNP	A	TCGA-CN-A640-01A-21D-A30E-08	26150490	101188642	148061979	5	23727											
BCL9	607	broad.mit.edu	37	chr1	147090824	147090824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaacaaactgattccttCtgtaggaagtcctgccagct	13	10	8	10	0	1	2	0	1	1	1	3	3	3	3	3	1	4	2	3	1	5	3			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:147090824C>T	ENST00000234739.3	+	8	1603	c.863C>T	c.(862-864)tCt>tTt	p.S288F		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	288	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTGATTCCTTCTGTAGGAAGT	0.617			T	"IGH@, IGL@"	B-ALL								10	97					0	0	0	0	T	147090824	C	T	147090824	3	4	123	1	0	0	0	0	1	0	0	0	1385	913	32	2	881	2	BCL9	1	147090824	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	45902182	147090824	102159797	6	23728											
DARC	2532	broad.mit.edu	37	chr1	159176123	159176123	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaattttgcactgtgtGgctacgcccctgctcctcgc	4	12	10	15	2	0	0	0	0	0	0	2	0	1	0	3	2	3	4	3	2	2	3			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:159176123G>C	ENST00000537147.1	+	3	1737	c.894G>C	c.(892-894)gtG>gtC	p.V298V	DARC_ENST00000368122.2_Silent_p.V298V|DARC_ENST00000368121.2_Silent_p.V300V			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	298					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGCACTGTGTGGCTACGCCCC	0.607													35	357					0	0	0	0	C	159176123	G	C	159176123	2	2	123	1	0	0	0	0	0	0	0	1	4273	1335	47	4		4	DARC	1	159176123	Silent	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	12085299	159176123	90074498	7	23729											
GPR52	9293	broad.mit.edu	37	chr1	174417676	174417676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtggatcgttatcttgcaAtaaccaagcctctttcctac	9	14	7	11	1	2	0	0	0	2	0	4	1	3	1	3	1	4	2	3	1	5	5			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:174417676A>G	ENST00000367685.2	+	1	465	c.427A>G	c.(427-429)Ata>Gta	p.I143V	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	143						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TTATCTTGCAATAACCAAGCC	0.408													22	201					0	0	0	0	G	174417676	A	G	174417676	3	3	123	1	0	0	0	0	1	0	0	0	6747	101	4	5	429	5	GPR52	1	174417676	Missense_Mutation	SNP	A	TCGA-CN-A640-01A-21D-A30E-08	15241553	174417676	74832945	8	23730											
NPHS2	7827	broad.mit.edu	37	chr1	179523631	179523631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttctattctctccactttGattccccaaatacaggtcac	10	15	3	13	0	3	1	1	1	2	0	6	1	5	1	3	1	1	0	3	1	3	6			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:179523631G>C	ENST00000367615.4	-	6	842	c.774C>G	c.(772-774)atC>atG	p.I258M	AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.I190M	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	258					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TCTCCACTTTGATTCCCCAAA	0.393													17	91					0	0	0	0	C	179523631	G	C	179523631	3	2	123	1	0	0	0	0	1	0	0	0	10653	1280	45	2	389	2	NPHS2	1	179523631	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	5105955	179523631	69726990	9	23731											
ANAPC1	64682	broad.mit.edu	37	chr2	112621425	112621425	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctgctagtggccacattCtgtggggttcccccctgttc	4	12	12	13	0	1	0	0	0	1	0	3	1	2	0	4	3	2	4	4	3	1	4			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr2:112621425C>T	ENST00000341068.3	-	9	1651	c.879G>A	c.(877-879)caG>caA	p.Q293Q		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	293					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGGCCACATTCTGTGGGGTTC	0.408													9	44					0	0	0	0	T	112621425	C	T	112621425	2	4	123	1	0	0	0	0	0	0	0	1	598	912	32	2		2	ANAPC1	2	112621425	Silent	SNP	C	TCGA-CN-A640-01A-21D-A30E-08		112621425	130577948	10	23732											
COL3A1	1281	broad.mit.edu	37	chr2	189861176	189861176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgggccatctggtccccGaggtcagcctggtgtcatgg	4	10	14	13	1	3	0	2	0	1	0	5	1	5	0	5	5	1	0	5	5	0	0			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr2:189861176G>A	ENST00000304636.3	+	24	1885	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.R572Q	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	572	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCTGGTCCCCGAGGTCAGCCT	0.408													7	33					0	0	0	0	A	189861176	G	A	189861176	3	1	123	1	0	0	0	0	1	0	0	0	3718	1058	37	1	1809	1	COL3A1	2	189861176	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	77239751	189861176	53338197	11	23733											
STAT4	6775	broad.mit.edu	37	chr2	191896239	191896239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacccctttctgttggtcttGaaactggaaaacaaaaaggc	13	10	8	10	0	2	1	0	1	2	0	2	2	2	2	2	3	2	1	2	3	5	3			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr2:191896239G>A	ENST00000392320.2	-	22	2362	c.2048C>T	c.(2047-2049)tCa>tTa	p.S683L	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.S683L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	683					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGTTGGTCTTGAAACTGGAAA	0.313													6	27					0	0	0	0	A	191896239	G	A	191896239	3	1	123	1	0	0	0	0	1	0	0	0	15357	1294	45	2	210	2	STAT4	2	191896239	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	2035063	191896239	51303134	12	23734											
CNTN4	152330	broad.mit.edu	37	chr3	3076402	3076402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacccgggcctgacaacCacagccccatcaccatgtat	11	5	9	16	1	1	2	1	1	0	1	1	3	1	2	6	2	2	1	6	2	2	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr3:3076402C>G	ENST00000397461.1	+	16	2254	c.1870C>G	c.(1870-1872)Cac>Gac	p.H624D	CNTN4_ENST00000427331.1_Missense_Mutation_p.H624D|CNTN4_ENST00000358480.3_Missense_Mutation_p.H405D|CNTN4_ENST00000448906.2_Missense_Mutation_p.H296D|CNTN4_ENST00000418658.1_Missense_Mutation_p.H624D|CNTN4_ENST00000397459.2_Missense_Mutation_p.H296D	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	624	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCCTGACAACCACAGCCCCAT	0.547													11	70					0	0	0	0	G	3076402	C	G	3076402	3	3	123	1	0	0	0	0	1	0	0	0	3673	594	21	4	1924	4	CNTN4	3	3076402	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08		3076402	194946028	13	23735											
RFTN1	23180	broad.mit.edu	37	chr3	16411644	16411644	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctttccggaagtggtcGctcatgtgctctaaccagtt	6	13	9	13	2	2	0	1	0	1	0	5	1	4	1	4	2	2	3	4	2	2	3			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr3:16411644G>A	ENST00000334133.4	-	6	1241	c.969C>T	c.(967-969)agC>agT	p.S323S	RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Silent_p.S287S	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	323						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGAAGTGGTCGCTCATGTGCT	0.517													4	182					0	0	0	0	A	16411644	G	A	16411644	2	1	123	1	0	0	0	0	0	0	0	1	13340	1078	38	1		1	RFTN1	3	16411644	Silent	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	13335242	16411644	181610786	14	23736											
SCN11A	11280	broad.mit.edu	37	chr3	38941399	38941399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttaccactctgaaggaacGcaagaatggccagcttctct	11	9	8	13	1	2	2	0	1	2	1	3	3	2	3	3	2	3	2	3	2	5	2			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr3:38941399G>A	ENST00000302328.3	-	13	2206	c.2008C>T	c.(2008-2010)Cgt>Tgt	p.R670C	SCN11A_ENST00000450244.1_Missense_Mutation_p.R670C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R670C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R670C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	670					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTGAAGGAACGCAAGAATGGC	0.413													7	39					0	0	0	0	A	38941399	G	A	38941399	3	1	123	1	0	0	0	0	1	0	0	0	14000	1087	38	1	3423	1	SCN11A	3	38941399	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	22529755	38941399	159081031	15	23737											
P2RY14	9934	broad.mit.edu	37	chr3	150931664	150931664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcaaggaggagcatgagCatccatactatcactgacag	15	6	10	10	0	1	2	1	2	0	0	2	4	2	4	1	2	4	3	1	2	3	2			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr3:150931664C>T	ENST00000309170.3	-	3	753	c.441G>A	c.(439-441)atG>atA	p.M147I	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.M147I	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	147						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGAGCATGAGCATCCATACTA	0.383													6	92					0	0	0	0	T	150931664	C	T	150931664	3	4	123	1	0	0	0	0	1	0	0	0	11422	710	25	4	579	4	P2RY14	3	150931664	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	111990265	150931664	47090766	16	23738											
UNC5C	8633	broad.mit.edu	37	chr4	96166269	96166269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgttacacacagaccactCcgtccaggtggaccagccac	10	6	9	16	1	0	1	0	0	0	1	2	2	2	2	5	2	2	2	5	2	1	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr4:96166269C>T	ENST00000453304.1	-	6	1150	c.802G>A	c.(802-804)Gag>Aag	p.E268K	UNC5C_ENST00000506749.1_Missense_Mutation_p.E268K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	268	TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACAGACCACTCCGTCCAGGTG	0.512													8	60					0	0	0	0	T	96166269	C	T	96166269	3	4	123	1	0	0	0	0	1	0	0	0	17089	864	30	2	2037	2	UNC5C	4	96166269	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08		96166269	94988007	17	23739											
FAT1	2195	broad.mit.edu	37	chr4	187530425	187530425	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggttgccatctataattGagtagtggatgtggctgttg	7	16	13	5	0	1	1	0	1	1	0	1	2	1	2	1	3	1	4	1	3	3	7			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr4:187530425G>C	ENST00000441802.2	-	16	10327	c.10118C>G	c.(10117-10119)tCa>tGa	p.S3373*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3373	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCTATAATTGAGTAGTGGAT	0.478										HNSCC(5;0.00058)			6	31					0	0	0	0	C	187530425	G	C	187530425	4	2	123	1	0	0	0	0	0	1	0	0	5734	1294	45	2	3696	2	FAT1	4	187530425	Nonsense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	91364156	187530425	3623851	18	23740											
FSTL4	23105	broad.mit.edu	37	chr5	132535059	132535059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctccgtgtgcagagccgCgtagatgttgtattgattgc	6	12	14	9	4	0	3	0	1	0	2	1	3	1	3	2	1	3	5	2	1	2	5			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr5:132535059C>T	ENST00000265342.7	-	16	2506	c.2257G>A	c.(2257-2259)Gcg>Acg	p.A753T	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	753						extracellular region	calcium ion binding	p.A753T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCAGAGCCGCGTAGATGTTG	0.572													20	67					0	0	0	0	T	132535059	C	T	132535059	3	4	123	1	0	0	0	0	1	0	0	0	6127	768	27	1	275	1	FSTL4	5	132535059	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08		132535059	48380201	19	23741											
PCDHA7	56141	broad.mit.edu	37	chr5	140214188	140214188	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgcaaattccgtggggatCttctggaggtaaatctgcag	9	12	13	7	1	3	0	0	0	3	0	4	2	4	2	1	4	2	3	1	4	3	3			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr5:140214188C>G	ENST00000525929.1	+	1	220	c.220C>G	c.(220-222)Ctt>Gtt	p.L74V	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.L74V|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTGGGGATCTTCTGGAGGT	0.622													52	320					0	0	0	0	G	140214188	C	G	140214188	3	3	123	1	0	0	0	0	1	0	0	0	11600	913	32	2	222	2	PCDHA7	5	140214188	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	7679129	140214188	40701072	20	23742											
OR2B3	442184	broad.mit.edu	37	chr6	29055001	29055001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtagtataaactcttttgGggagctctcattttcccaat	11	15	7	8	0	2	0	1	0	2	0	4	1	3	1	1	2	2	3	1	2	6	7			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:29055001G>T	ENST00000377173.2	-	1	89	c.25C>A	c.(25-27)Cca>Aca	p.P9T		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AACTCTTTTGGGGAGCTCTCA	0.363													5	32					1.024e-07	1.0965e-07	1	0	T	29055001	G	T	29055001	3	4	123	1	0	0	0	0	1	0	0	0	11061	1232	43	4	920	4	OR2B3	6	29055001	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08		29055001	142060066	21	23743											
GTF2H4	2968	broad.mit.edu	37	chr6	30881699	30881700	+	Frame_Shift_Ins	INS	-	-	G																															gccaagcggctcatggtggtINSgaccccggccgggcacagcg																										TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:30881699_30881700insG	ENST00000259895.4	+	14	1551_1552	c.1328_1329insG	c.(1327-1329)gacfs	p.D443fs	GTF2H4_ENST00000376316.2_Frame_Shift_Ins_p.D443fs	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	443					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CTCATGGTGGTGACCCCGGCCG	0.653								Nucleotide excision repair (NER)					11	22	---	---	---	---					G	30881700	-	G	30881699	7	5	123	1	0	1	1	0	0	0	0	0	6915	1696	59	0	1378	0	GTF2H4	6	30881699	Frame_Shift_Ins	INS	-	TCGA-CN-A640-01A-21D-A30E-08	1826698	30881699	140233368	22	23744											
PHF3	23469	broad.mit.edu	37	chr6	64394047	64394047	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaacaagtaagaagtttgCgacagagcactattgccaag	16	8	10	7	1	0	3	0	0	0	3	0	4	0	3	1	0	4	3	1	0	7	5			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:64394047C>T	ENST00000262043.3	+	4	764	c.424C>T	c.(424-426)Cga>Tga	p.R142*	PHF3_ENST00000509330.1_Nonsense_Mutation_p.R142*|PHF3_ENST00000393387.1_Nonsense_Mutation_p.R142*			Q92576	PHF3_HUMAN	PHD finger protein 3	142					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.R142*(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGAAGTTTGCGACAGAGCAC	0.343													6	211					0	0	0	0	T	64394047	C	T	64394047	4	4	123	1	0	0	0	0	0	1	0	0	11908	760	27	1	434	1	PHF3	6	64394047	Nonsense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	33512348	64394047	106721020	23	23745											
MDN1	23195	broad.mit.edu	37	chr6	90362821	90362821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgtctgttctggggtCttggtcttcctctgttttaa	2	20	11	8	0	5	0	0	0	5	0	6	0	6	0	1	4	0	3	1	4	1	6			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:90362821C>A	ENST00000369393.3	-	94	15830	c.15715G>T	c.(15715-15717)Gac>Tac	p.D5239Y	MDN1_ENST00000428876.1_Missense_Mutation_p.D5239Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5239					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTCTGGGGTCTTGGTCTTCC	0.393													25	194					2.27525e-19	2.48023e-19	1	0	A	90362821	C	A	90362821	3	1	123	1	0	0	0	0	1	0	0	0	9484	913	32	2	1111	2	MDN1	6	90362821	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	25968774	90362821	80752246	24	23746											
ZBTB24	9841	broad.mit.edu	37	chr6	109787413	109787413	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcatgttttgggaactctCtgcagtcacaatgctgattc	9	14	9	9	0	3	1	2	1	1	0	5	2	3	2	0	1	3	3	0	1	2	3			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:109787413C>G	ENST00000230122.3	-	7	1902	c.1735G>C	c.(1735-1737)Gag>Cag	p.E579Q		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGGGAACTCTCTGCAGTCACA	0.483													20	129					0	0	0	0	G	109787413	C	G	109787413	3	3	123	1	0	0	0	0	1	0	0	0	17626	922	32	2	362	2	ZBTB24	6	109787413	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	19424592	109787413	61327654	25	23747											
LAMA2	3908	broad.mit.edu	37	chr6	129475783	129475783	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtacccaaaacactgctggTataaactgcgagacatgtac	14	9	8	10	1	0	1	0	0	0	1	0	2	0	1	1	1	6	4	1	1	7	4			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:129475783T>C	ENST00000421865.2	+	8	1210	c.1161T>C	c.(1159-1161)ggT>ggC	p.G387G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	387	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACACTGCTGGTATAAACTGCG	0.358													8	81					0	0	0	0	C	129475783	T	C	129475783	2	2	123	1	0	0	0	0	0	0	0	1	8659	1625	57	5		5	LAMA2	6	129475783	Silent	SNP	T	TCGA-CN-A640-01A-21D-A30E-08	19688370	129475783	41639284	26	23748											
LAMA2	3908	broad.mit.edu	37	chr6	129799900	129799900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgaaatttcaagaactcCgtacaatatactcagtagtc	15	13	5	8	1	2	2	2	1	0	1	4	2	3	2	1	0	3	2	1	0	9	7			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:129799900C>T	ENST00000421865.2	+	54	7563	c.7514C>T	c.(7513-7515)cCg>cTg	p.P2505L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2505	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCAAGAACTCCGTACAATATA	0.358													39	133					0	0	0	0	T	129799900	C	T	129799900	3	4	123	1	0	0	0	0	1	0	0	0	8659	652	23	1	7728	1	LAMA2	6	129799900	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	324117	129799900	41315167	27	23749											
KIAA1244	57221	broad.mit.edu	37	chr6	138617995	138617995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgccctccacctgttccGcctggggaatgccatgctga	7	8	11	15	2	0	1	0	1	0	0	2	2	2	2	6	2	3	2	6	2	2	1	rs146602445		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:138617995G>T	ENST00000251691.4	+	21	3717	c.3551G>T	c.(3550-3552)cGc>cTc	p.R1184L		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1184					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)		CACCTGTTCCGCCTGGGGAAT	0.557													39	193					1.57019e-19	1.72721e-19	1	0	T	138617995	G	T	138617995	3	4	123	1	0	0	0	0	1	0	0	0	8268	1087	38	3	3633	3	KIAA1244	6	138617995	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	8818095	138617995	32497072	28	23750											
RAC1	5879	broad.mit.edu	37	chr7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacctggagtgctcggCgctcacacagcgaggcctca	11	6	11	13	3	2	0	2	0	0	0	3	2	2	1	2	3	3	2	2	3	3	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000356142.4_Missense_Mutation_p.A178V|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GAGTGCTCGGCGCTCACACAG	0.567													22	103					0	0	0	0	T	6441974	C	T	6441974	3	4	123	1	0	0	0	0	1	0	0	0	13056	768	27	1	559	1	RAC1	7	6441974	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08		6441974	152696689	29	23751											
PCLO	27445	broad.mit.edu	37	chr7	82544169	82544169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattggtggcaggggtccaGctgcagccctggccattccc	6	9	13	13	0	0	0	0	0	0	0	2	0	2	0	4	5	3	3	4	5	1	3			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr7:82544169G>T	ENST00000423517.2	-	7	13470	c.13133C>A	c.(13132-13134)gCt>gAt	p.A4378D	PCLO_ENST00000437081.1_Missense_Mutation_p.A1098D|PCLO_ENST00000333891.8_Missense_Mutation_p.A4378D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4309					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGGGGTCCAGCTGCAGCCCT	0.512													11	50					0.0692343	0.0703979	1	0	T	82544169	G	T	82544169	3	4	123	1	0	0	0	0	1	0	0	0	11654	971	34	4	2388	4	PCLO	7	82544169	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	76102195	82544169	76594494	30	23752											
KIAA1549	57670	broad.mit.edu	37	chr7	138579166	138579166	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggcatagtttccagtagagGatgacaacaatcaccatcac	14	8	8	11	1	2	2	2	1	0	1	3	3	3	3	2	2	1	3	2	2	4	3			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr7:138579166G>A	ENST00000440172.1	-	10	4002	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	KIAA1549_ENST00000422774.1_Silent_p.I1318I|KIAA1549_ENST00000242365.4_Silent_p.I1268I	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1318						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCCAGTAGAGGATGACAACAA	0.547			O	BRAF	pilocytic astrocytoma								19	117					0	0	0	0	A	138579166	G	A	138579166	2	1	123	1	0	0	0	0	0	0	0	1	8295	1164	41	2		2	KIAA1549	7	138579166	Silent	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	56034997	138579166	20559497	31	23753											
ST18	9705	broad.mit.edu	37	chr8	53045825	53045825	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggaagcatagtttccagtCacgtgccccgagccatcgca	9	8	11	13	3	1	0	1	0	0	0	3	2	2	1	4	1	3	3	4	1	2	2			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr8:53045825C>G	ENST00000276480.7	-	20	3020	c.2337G>C	c.(2335-2337)gtG>gtC	p.V779V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	779						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGTTTCCAGTCACGTGCCCCG	0.522													16	99					0	0	0	0	G	53045825	C	G	53045825	2	3	123	1	0	0	0	0	0	0	0	1	15302	813	29	2		2	ST18	8	53045825	Silent	SNP	C	TCGA-CN-A640-01A-21D-A30E-08		53045825	93318197	32	23754											
PI15	51050	broad.mit.edu	37	chr8	75757695	75757695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttggggatctgtgtggCgacgtgcagtttacttggta	6	15	15	5	2	1	0	0	0	1	0	1	2	1	1	0	4	2	4	0	4	2	5			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr8:75757695C>G	ENST00000260113.2	+	5	783	c.604C>G	c.(604-606)Cga>Gga	p.R202G	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.R202G|RP11-758M4.4_ENST00000522914.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	202						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			ATCTGTGTGGCGACGTGCAGT	0.423													10	85					0	0	0	0	G	75757695	C	G	75757695	3	3	123	1	0	0	0	0	1	0	0	0	11940	760	27	3	618	3	PI15	8	75757695	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	22711870	75757695	70606327	33	23755											
GSDMD	79792	broad.mit.edu	37	chr8	144644852	144644852	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgggcagcctcttggagcaGagtgccccgtggcaggagcg	6	6	18	11	2	1	1	0	0	1	1	1	3	1	3	3	4	4	3	3	4	0	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr8:144644852G>C	ENST00000526406.1	+	14	2116	c.1233G>C	c.(1231-1233)caG>caC	p.Q411H	GSDMD_ENST00000533063.1_Missense_Mutation_p.Q459H|GSDMD_ENST00000262580.4_Missense_Mutation_p.Q411H	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	411				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).						breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCTTGGAGCAGAGTGCCCCGT	0.662													4	23					0	0	0	0	C	144644852	G	C	144644852	3	2	123	1	0	0	0	0	1	0	0	0	6869	933	33	2	1271	2	GSDMD	8	144644852	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	68887157	144644852	1719170	34	23756											
EPPK1	83481	broad.mit.edu	37	chr8	144946991	144946992	+	Frame_Shift_Ins	INS	-	-	T																															ccagctctgccccagggcccINStgtccacaacctccttcccg																								rs146779869	by1000genomes	TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr8:144946991_144946992insT	ENST00000525985.1	-	2	501_502	c.430_431insA	c.(430-432)ggcfs	p.G144fs				P58107	EPIPL_HUMAN	epiplakin 1	144						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCAGGGCCCTGTCCACAACC	0.688													9	84	---	---	---	---					T	144946992	-	T	144946991	7	5	123	1	0	1	1	0	0	0	0	0	5228	681	24	0	6835	0	EPPK1	8	144946991	Frame_Shift_Ins	INS	-	TCGA-CN-A640-01A-21D-A30E-08	302139	144946991	1417031	35	23757											
CDKN2A	1029	broad.mit.edu	37	chr9	21971180	21971180	+	Frame_Shift_Del	DEL	C	C	-																															gtggagcagcagcagctccgCcactcgggcgctgcccatca																										TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr9:21971180delC	ENST00000579755.1	-	2	513	c.221delG	c.(220-222)gcfs	p.G75fs	CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.A60fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.A60fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.A60fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G75fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.A60fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G116fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	51					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.R58fs*59(2)|p.V59fs*82(2)|p.0(1)|p.V28_V51del(1)|p.E61fs*49(1)|p.V59fs*45(1)|p.G55fs*86(1)|p.A60fs*86(1)|p.V59_G67del(1)|p.A57fs*85(1)|p.E61fs*55(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGCAGCTCCGCCACTCGGGCG	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			18	29	---	---	---	---					-	21971180	C	-	21971180	7	5	123	1	0	1	0	1	0	0	0	0	3190	739	26	0	300	0	CDKN2A	9	21971180	Frame_Shift_Del	DEL	C	TCGA-CN-A640-01A-21D-A30E-08		21971180	119242251	36	23758											
ZNF462	58499	broad.mit.edu	37	chr9	109701361	109701361	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actcctcccaaaaagctaccCcggctgaagaagtggaagac	14	5	9	13	1	0	3	0	1	0	2	2	4	2	4	4	2	2	2	4	2	6	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr9:109701361C>G	ENST00000277225.5	+	7	6689	c.6400C>G	c.(6400-6402)Ccg>Gcg	p.P2134A	ZNF462_ENST00000542028.1_Missense_Mutation_p.P91A|ZNF462_ENST00000457913.1_Missense_Mutation_p.P2194A|ZNF462_ENST00000441147.2_Missense_Mutation_p.P1040A			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2134					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAAAGCTACCCCGGCTGAAGA	0.537													66	252					0	0	0	0	G	109701361	C	G	109701361	3	3	123	1	0	0	0	0	1	0	0	0	18021	623	22	4	6422	4	ZNF462	9	109701361	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	87730181	109701361	31512070	37	23759											
PTPN3	5774	broad.mit.edu	37	chr9	112144691	112144691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtggtcaggccatgcgaCgtactggagatgtgtcactg	8	9	14	10	3	2	1	2	0	0	1	2	3	2	1	2	3	2	1	2	3	1	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr9:112144691C>T	ENST00000412145.1	-	19	4579	c.2026G>A	c.(2026-2028)Gtc>Atc	p.V676I	PTPN3_ENST00000446349.1_Missense_Mutation_p.V631I|PTPN3_ENST00000262539.3_Missense_Mutation_p.V653I|PTPN3_ENST00000374541.2_Missense_Mutation_p.V807I|PTPN3_ENST00000394827.3_Missense_Mutation_p.V275I	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	807	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCCATGCGACGTACTGGAGA	0.572													11	70					0	0	0	0	T	112144691	C	T	112144691	3	4	123	1	0	0	0	0	1	0	0	0	12871	536	19	1	334	1	PTPN3	9	112144691	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	2443330	112144691	29068740	38	23760											
VIM	7431	broad.mit.edu	37	chr10	17271591	17271591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctctacgcctcgtcccCgggcggcgtgtatgccacgc	4	7	12	18	6	1	0	0	0	1	0	3	0	2	0	5	2	3	1	5	2	2	2			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr10:17271591C>T	ENST00000544301.1	+	2	583	c.170C>T	c.(169-171)cCg>cTg	p.P57L	VIM_ENST00000224237.5_Missense_Mutation_p.P57L|VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000485947.1_3'UTR	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	57	Head.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCTCGTCCCCGGGCGGCGTG	0.731													3	15					0	0	0	0	T	17271591	C	T	17271591	3	4	123	1	0	0	0	0	1	0	0	0	17262	652	23	1	172	1	VIM	10	17271591	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08		17271591	118263156	39	23761											
KIAA1217	56243	broad.mit.edu	37	chr10	24762778	24762779	+	In_Frame_Ins	INS	-	-	ATA																															gatagacatgcacgctcactINSataatgcccacggcccccct																										TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr10:24762778_24762779insATA	ENST00000376451.2	+	2	882_883	c.622_623insATA	c.(622-624)taa>ATAtaa	p.207_208insI	KIAA1217_ENST00000376454.3_In_Frame_Ins_p.489_490insI|KIAA1217_ENST00000430453.2_In_Frame_Ins_p.410_411insI|KIAA1217_ENST00000307544.6_In_Frame_Ins_p.207_208insI|KIAA1217_ENST00000396445.1_In_Frame_Ins_p.207_208insI|KIAA1217_ENST00000376462.1_In_Frame_Ins_p.409_410insI|KIAA1217_ENST00000396446.1_In_Frame_Ins_p.207_208insI|KIAA1217_ENST00000458595.1_In_Frame_Ins_p.489_490insI|KIAA1217_ENST00000376452.3_In_Frame_Ins_p.489_490insI			Q5T5P2	SKT_HUMAN	KIAA1217	489					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCACGCTCACTATAATGCCCAC	0.554													18	169	---	---	---	---					ATA	24762779	-	ATA	24762778	7	5	123	1	0	1	1	0	0	0	0	0	8267	1522	53	0	1490	0	KIAA1217	10	24762778	In_Frame_Ins	INS	-	TCGA-CN-A640-01A-21D-A30E-08	7491187	24762778	110771969	40	23762											
TSSC4	10078	broad.mit.edu	37	chr11	2424709	2424709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcctgcaggaggtggaGgcactgtcagggtctgtcca	7	7	18	9	0	2	0	1	0	1	0	3	3	3	3	2	7	1	2	2	7	0	0			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr11:2424709G>A	ENST00000333256.6	+	3	1289	c.846G>A	c.(844-846)gaG>gaA	p.E282E	TSSC4_ENST00000380992.1_Intron|TSSC4_ENST00000467308.1_Intron|TSSC4_ENST00000380996.5_Silent_p.E218E|TSSC4_ENST00000451491.2_Silent_p.E282E			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	282										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGAGGTGGAGGCACTGTCAG	0.677													6	19					0	0	0	0	A	2424709	G	A	2424709	2	1	123	1	0	0	0	0	0	0	0	1	16762	991	35	4		4	TSSC4	11	2424709	Silent	SNP	G	TCGA-CN-A640-01A-21D-A30E-08		2424709	132581807	41	23763											
KCNA4	3739	broad.mit.edu	37	chr11	30032364	30032364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcctcctttgcacacagaGattccttaactccttcttcc	7	15	3	16	0	2	1	0	0	2	1	7	2	6	1	5	0	2	1	5	0	1	5			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr11:30032364G>A	ENST00000328224.6	-	2	3095	c.1862C>T	c.(1861-1863)tCt>tTt	p.S621F		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	621						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGCACACAGAGATTCCTTAAC	0.453													11	93					0	0	0	0	A	30032364	G	A	30032364	3	1	123	1	0	0	0	0	1	0	0	0	8058	942	33	2	103	2	KCNA4	11	30032364	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	27607655	30032364	104974152	42	23764											
ALDH3B1	221	broad.mit.edu	37	chr11	67789113	67789113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttccgctacttcaacgccgGccagacctgcgtggcccccg	5	7	11	18	5	1	1	1	0	0	1	2	1	2	1	6	2	3	2	6	2	2	3			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr11:67789113G>A	ENST00000539229.1	+	8	835	c.719G>A	c.(718-720)gGc>gAc	p.G240D	ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.G204D|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.G240D	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	241					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	TTCAACGCCGGCCAGACCTGC	0.652											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	278					0	0	0	0	A	67789113	G	A	67789113	3	1	123	1	0	0	0	0	1	0	0	0	499	1203	42	4	743	4	ALDH3B1	11	67789113	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	37756749	67789113	67217403	43	23765											
NUMA1	4926	broad.mit.edu	37	chr11	71717105	71717105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggccccactggacacccCggcctgggaacgacgagcag	9	2	15	15	3	0	0	0	0	0	0	0	4	0	2	5	5	2	1	5	5	1	0			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr11:71717105C>T	ENST00000393695.3	-	22	5999	c.5668G>A	c.(5668-5670)Ggg>Agg	p.G1890R	NUMA1_ENST00000351960.6_Missense_Mutation_p.G754R|NUMA1_ENST00000358965.6_Missense_Mutation_p.G1876R	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1890					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGGACACCCCGGCCTGGGAA	0.592			T	RARA	APL								5	202					0	0	0	0	T	71717105	C	T	71717105	3	4	123	1	0	0	0	0	1	0	0	0	10821	652	23	1	703	1	NUMA1	11	71717105	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	3927992	71717105	63289411	44	23766											
OPCML	4978	broad.mit.edu	37	chr11	132527123	132527123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgaccaggatgatcacacGagggtctatggaccacttgt	11	10	11	9	1	2	2	1	2	1	0	2	5	2	4	2	3	0	0	2	3	1	3			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr11:132527123G>A	ENST00000331898.7	-	2	837	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.R80C|OPCML_ENST00000541867.1_Missense_Mutation_p.R87C|OPCML_ENST00000374778.4_Missense_Mutation_p.R46C	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	87	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ATGATCACACGAGGGTCTATG	0.527													9	93					0	0	0	0	A	132527123	G	A	132527123	3	1	123	1	0	0	0	0	1	0	0	0	10945	1058	37	1	802	1	OPCML	11	132527123	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	60810018	132527123	2479393	45	23767											
RAD52	5893	broad.mit.edu	37	chr12	1042191	1042191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcaggatggctgtcacGtcctccaagaattgcttcct	9	10	10	12	1	1	1	1	0	0	1	4	2	4	2	3	2	3	4	3	2	2	2			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr12:1042191G>A	ENST00000358495.3	-	2	172	c.34C>T	c.(34-36)Cgt>Tgt	p.R12C	RAD52_ENST00000545564.1_Missense_Mutation_p.R12C|RAD52_ENST00000544742.1_Missense_Mutation_p.R12C|RAD52_ENST00000541619.1_Missense_Mutation_p.R12C|RAD52_ENST00000539046.1_Intron|RAD52_ENST00000536177.1_Missense_Mutation_p.R12C|RAD52_ENST00000430095.2_Missense_Mutation_p.R12C	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	12					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TGGCTGTCACGTCCTCCAAGA	0.448								Homologous recombination					5	390					0	0	0	0	A	1042191	G	A	1042191	3	1	123	1	0	0	0	0	1	0	0	0	13073	1145	40	1	1266	1	RAD52	12	1042191	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08		1042191	132809704	46	23768											
IFFO1	25900	broad.mit.edu	37	chr12	6657690	6657690	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtcaggctgtcacagtcGtcctcaaaatcatactccct	11	10	6	14	1	4	0	4	0	0	0	7	0	6	0	2	1	1	1	2	1	4	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr12:6657690G>A	ENST00000436152.2	-	8	898	c.339C>T	c.(337-339)gaC>gaT	p.D113D	IFFO1_ENST00000396840.2_Silent_p.D417D|IFFO1_ENST00000356896.4_Silent_p.D420D|IFFO1_ENST00000465801.1_Silent_p.D113D|IFFO1_ENST00000336604.4_Silent_p.D420D			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	417						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TGTCACAGTCGTCCTCAAAAT	0.647													19	107					0	0	0	0	A	6657690	G	A	6657690	2	1	123	1	0	0	0	0	0	0	0	1	7563	1136	40	1		1	IFFO1	12	6657690	Silent	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	5615499	6657690	127194205	47	23769											
FAM71C	196472	broad.mit.edu	37	chr12	100042352	100042352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaataaccatccacaacagcGtaaaaaaacagctccacctg	19	5	4	13	1	0	0	0	0	0	0	2	0	2	0	4	0	5	2	4	0	7	2			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr12:100042352G>A	ENST00000324341.1	+	1	822	c.400G>A	c.(400-402)Gta>Ata	p.V134I	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	134										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CCACAACAGCGTAAAAAAACA	0.483													5	111					0	0	0	0	A	100042352	G	A	100042352	3	1	123	1	0	0	0	0	1	0	0	0	5655	1145	40	1	402	1	FAM71C	12	100042352	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	93384662	100042352	33809543	48	23770											
STAB2	55576	broad.mit.edu	37	chr12	104089528	104089528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgcagcaatataatctggCgaatgcaattgaggctgccg	12	9	11	9	3	1	1	0	1	1	0	2	2	1	1	1	2	3	4	1	2	5	3			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr12:104089528C>T	ENST00000388887.2	+	33	3692	c.3488C>T	c.(3487-3489)gCg>gTg	p.A1163V		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1163	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TATAATCTGGCGAATGCAATT	0.468													4	86					0	0	0	0	T	104089528	C	T	104089528	3	4	123	1	0	0	0	0	1	0	0	0	15328	768	27	1	3618	1	STAB2	12	104089528	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	4047176	104089528	29762367	49	23771											
LRCH1	23143	broad.mit.edu	37	chr13	47243286	47243286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcagctcaaacagttaatgGagctggtatgttaccgattt	11	13	10	7	1	2	0	2	0	0	0	2	2	2	1	1	2	4	5	1	2	4	4			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr13:47243286G>A	ENST00000311191.6	+	3	803	c.574G>A	c.(574-576)Gag>Aag	p.E192K	LRCH1_ENST00000389797.3_Missense_Mutation_p.E192K|LRCH1_ENST00000389798.3_Missense_Mutation_p.E192K	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	192										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ACAGTTAATGGAGCTGGTATG	0.423													19	96					0	0	0	0	A	47243286	G	A	47243286	3	1	123	1	0	0	0	0	1	0	0	0	8996	1175	41	2	584	2	LRCH1	13	47243286	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08		47243286	67926592	50	23772											
SLITRK5	26050	broad.mit.edu	37	chr13	88329446	88329446	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaaaaattcgctgagacCgacatgcgctccattaagtc	13	8	7	13	3	0	1	0	1	0	1	3	3	1	1	3	0	1	2	3	0	4	2			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr13:88329446C>T	ENST00000325089.6	+	2	2022	c.1803C>T	c.(1801-1803)acC>acT	p.T601T	SLITRK5_ENST00000400028.3_Silent_p.T360T	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	601	LRRCT 2.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCGCTGAGACCGACATGCGCT	0.557													29	218					0	0	0	0	T	88329446	C	T	88329446	2	4	123	1	0	0	0	0	0	0	0	1	14834	639	23	1		1	SLITRK5	13	88329446	Silent	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	41086160	88329446	26840432	51	23773											
TEP1	7011	broad.mit.edu	37	chr14	20872897	20872897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgttattggccacattcCggacgttcagctgctgcctg	7	12	11	11	2	1	1	1	0	0	1	2	2	2	2	3	2	3	4	3	2	1	4			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr14:20872897C>T	ENST00000262715.5	-	5	945	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	302	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGCCACATTCCGGACGTTCAG	0.537													4	95					0	0	0	0	T	20872897	C	T	20872897	3	4	123	1	0	0	0	0	1	0	0	0	15853	652	23	1	7182	1	TEP1	14	20872897	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08		20872897	86476643	52	23774											
ALKBH1	8846	broad.mit.edu	37	chr14	78140550	78140550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggcctcatccctttgaaGaccacccaggagaaagatgg	11	6	13	11	0	1	4	1	1	0	3	2	5	2	4	4	4	0	0	4	4	2	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr14:78140550G>A	ENST00000216489.3	-	6	790	c.775C>T	c.(775-777)Ctt>Ttt	p.L259F		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	259	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCCCTTTGAAGACCACCCAGG	0.433													9	46					0	0	0	0	A	78140550	G	A	78140550	3	1	123	1	0	0	0	0	1	0	0	0	526	942	33	2	398	2	ALKBH1	14	78140550	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	57267653	78140550	29208990	53	23775											
GABRB3	2562	broad.mit.edu	37	chr15	26825563	26825563	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtaacagccttgtccccGcctcgccagtaaaactcaat	10	8	7	16	3	1	0	1	0	0	0	3	0	2	0	6	1	3	2	6	1	4	3			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr15:26825563G>A	ENST00000541819.2	-	7	855	c.753C>T	c.(751-753)ggC>ggT	p.G251G	GABRB3_ENST00000545868.1_Silent_p.G110G|GABRB3_ENST00000299267.4_Silent_p.G195G|GABRB3_ENST00000311550.5_Silent_p.G195G|GABRB3_ENST00000400188.3_Silent_p.G124G			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	195					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	CCTTGTCCCCGCCTCGCCAGT	0.532													19	87					0	0	0	0	A	26825563	G	A	26825563	2	1	123	1	0	0	0	0	0	0	0	1	6216	1074	38	1		1	GABRB3	15	26825563	Silent	SNP	G	TCGA-CN-A640-01A-21D-A30E-08		26825563	75705829	54	23776											
HERC2	8924	broad.mit.edu	37	chr15	28389948	28389948	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagtcggaccactctcGgcctgcgggaggaaagcgca	9	4	15	13	4	1	0	0	0	1	0	3	4	1	4	3	5	2	1	3	5	1	0			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr15:28389948G>A	ENST00000261609.7	-	72	11119	c.11011C>T	c.(11011-11013)Cga>Tga	p.R3671*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3671					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GACCACTCTCGGCCTGCGGGA	0.562													9	44					0	0	0	0	A	28389948	G	A	28389948	4	1	123	1	0	0	0	0	0	1	0	0	7108	1124	39	1	3581	1	HERC2	15	28389948	Nonsense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	1564385	28389948	74141444	55	23777											
DMXL2	23312	broad.mit.edu	37	chr15	51791379	51791379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaacagctgagttggatGatattgtggaagagtagggg	11	12	15	3	0	1	3	0	2	1	1	1	5	1	5	0	4	2	3	0	4	4	6			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr15:51791379G>A	ENST00000251076.5	-	18	4329	c.4042C>T	c.(4042-4044)Cat>Tat	p.H1348Y	DMXL2_ENST00000543779.2_Missense_Mutation_p.H1348Y|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1348						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGAGTTGGATGATATTGTGGA	0.388													22	75					0	0	0	0	A	51791379	G	A	51791379	3	1	123	1	0	0	0	0	1	0	0	0	4632	1290	45	2	5175	2	DMXL2	15	51791379	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	23401431	51791379	50740013	56	23778											
C16orf59	80178	broad.mit.edu	37	chr16	2510989	2510989	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgacagcctccgccccaccGcattccccaggccaagctgg	8	4	9	20	3	0	0	0	0	0	0	2	1	2	0	8	2	2	2	8	2	1	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:2510989G>A	ENST00000569496.1	+	4	428	c.369G>A	c.(367-369)ccG>ccA	p.P123P	C16orf59_ENST00000563531.1_Silent_p.P123P|C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000361837.4_Silent_p.P123P			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	123										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CCGCCCCACCGCATTCCCCAG	0.642													4	85					0	0	0	0	A	2510989	G	A	2510989	2	1	123	1	0	0	0	0	0	0	0	1	1836	1074	38	1		1	C16orf59	16	2510989	Silent	SNP	G	TCGA-CN-A640-01A-21D-A30E-08		2510989	87843764	57	23779											
SRRM2	23524	broad.mit.edu	37	chr16	2817460	2817460	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgccttggcagctctgagtCtcacaggctctggcacacca	7	9	10	15	0	3	1	1	1	3	0	4	1	3	1	2	3	2	4	2	3	0	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:2817460C>G	ENST00000301740.8	+	11	7480	c.6931C>G	c.(6931-6933)Ctc>Gtc	p.L2311V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2311	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCTCTGAGTCTCACAGGCTC	0.627													60	485					0	0	0	0	G	2817460	C	G	2817460	3	3	123	1	0	0	0	0	1	0	0	0	15259	913	32	2	6969	2	SRRM2	16	2817460	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	306471	2817460	87537293	58	23780			1	33		3	3	668	C		1.916794e-06
SRRM2	23524	broad.mit.edu	37	chr16	2818013	2818013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatcacaatggcatgctctCtgtccctgcccctggggtgc	5	11	11	14	0	2	1	1	1	1	0	4	1	3	1	3	3	3	2	3	3	1	0			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:2818013C>G	ENST00000301740.8	+	11	8033	c.7484C>G	c.(7483-7485)tCt>tGt	p.S2495C	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2495	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGCATGCTCTCTGTCCCTGCC	0.627													11	72					0	0	0	0	G	2818013	C	G	2818013	3	3	123	1	0	0	0	0	1	0	0	0	15259	913	32	2	7522	2	SRRM2	16	2818013	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	553	2818013	87536740	59	23781			1	33		3	3	668	C		1.916794e-06
SRRM2	23524	broad.mit.edu	37	chr16	2818127	2818127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaaaggagcggcggagttCctcctcgtcgtcgtcgtcct	6	9	13	13	6	0	0	0	0	0	0	7	2	3	2	3	3	2	2	3	3	1	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:2818127C>A	ENST00000301740.8	+	11	8147	c.7598C>A	c.(7597-7599)tCc>tAc	p.S2533Y	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2533	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGGCGGAGTtcctcctcgtcg	0.627													4	41					0.150653	0.150653	1	0	A	2818127	C	A	2818127	3	1	123	1	0	0	0	0	1	0	0	0	15259	855	30	2	7636	2	SRRM2	16	2818127	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	114	2818127	87536626	60	23782			1	33		3	3	668	C		1.916794e-06
SULT1A1	6817	broad.mit.edu	37	chr16	28618394	28618394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgttgcgggcaacatagAccacctgcaggggcagaaga	11	6	14	10	2	0	3	0	0	0	3	0	3	0	3	2	3	4	4	2	3	3	3			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:28618394A>G	ENST00000395609.1	-	7	1135	c.377T>C	c.(376-378)gTc>gCc	p.V126A	SULT1A1_ENST00000350842.4_Missense_Mutation_p.V48A|SULT1A1_ENST00000569554.1_Missense_Mutation_p.V126A|SULT1A1_ENST00000314752.7_Missense_Mutation_p.V126A|SULT1A1_ENST00000395607.1_Missense_Mutation_p.V126A			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	126					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GGCAACATAGACCACCTGCAG	0.577													14	95					0	0	0	0	G	28618394	A	G	28618394	3	3	123	1	0	0	0	0	1	0	0	0	15462	275	10	5	526	5	SULT1A1	16	28618394	Missense_Mutation	SNP	A	TCGA-CN-A640-01A-21D-A30E-08	25800267	28618394	61736359	61	23783											
EIF3C	8663	broad.mit.edu	37	chr16	28734621	28734621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggggagtgggaaagggtcCggggcggagtgccgttggtt	5	7	23	6	4	0	0	0	0	0	0	1	3	1	3	2	8	1	2	2	8	1	2			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:28734621C>T	ENST00000331666.6	+	9	1099	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	EIF3C_ENST00000564243.1_Missense_Mutation_p.R295W|EIF3C_ENST00000395587.1_Missense_Mutation_p.R305W|EIF3C_ENST00000566866.1_Missense_Mutation_p.R305W|EIF3C_ENST00000566501.1_Missense_Mutation_p.R305W			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	305						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.R305R(2)		lung(5)|skin(1)	6						GGAAAGGGTCCGGGGCGGAGT	0.537													6	757					0	0	0	0	T	28734621	C	T	28734621	3	4	123	1	0	0	0	0	1	0	0	0	5050	643	23	1	3768	1	EIF3C	16	28734621	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	116227	28734621	61620132	62	23784											
CTRL	1506	broad.mit.edu	37	chr16	67963886	67963886	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggtgctgaacttgctaactCgagtatacacagcaggtgcg	11	9	12	9	2	0	1	0	1	0	0	1	2	0	1	0	2	7	4	0	2	4	4			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:67963886C>G	ENST00000574481.1	-	7	1307	c.746G>C	c.(745-747)cGa>cCa	p.R249P		NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	249	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CTTGCTAACTCGAGTATACAC	0.542													6	127					0	0	0	0	G	67963886	C	G	67963886	3	3	123	1	0	0	0	0	1	0	0	0	4060	884	31	3	52	3	CTRL	16	67963886	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	39229265	67963886	22390867	63	23785											
BCAR1	9564	broad.mit.edu	37	chr16	75269680	75269680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcaagccagggggcacgtCgtagaggtcaggagccgggg	8	3	19	11	4	1	1	1	0	0	1	2	2	1	2	3	6	2	3	3	6	2	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:75269680C>T	ENST00000546196.1	-	5	2682	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N	BCAR1_ENST00000538440.2_Missense_Mutation_p.D373N|BCAR1_ENST00000418647.3_Missense_Mutation_p.D419N|BCAR1_ENST00000535626.2_Missense_Mutation_p.D225N|BCAR1_ENST00000393420.6_Missense_Mutation_p.D391N|BCAR1_ENST00000393422.2_Missense_Mutation_p.D391N|BCAR1_ENST00000542031.2_Missense_Mutation_p.D371N|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000162330.5_Missense_Mutation_p.D373N|BCAR1_ENST00000420641.3_Missense_Mutation_p.D391N			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	373	Substrate for kinases (By similarity).				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGGGGCACGTCGTAGAGGTCA	0.716													3	40					0	0	0	0	T	75269680	C	T	75269680	3	4	123	1	0	0	0	0	1	0	0	0	1352	884	31	1	1507	1	BCAR1	16	75269680	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	7305794	75269680	15085073	64	23786											
TP53	7157	broad.mit.edu	37	chr17	7578461	7578462	+	Frame_Shift_Del	DEL	CG	CG	-																															gtagatggccatggcgcggaCgcgggtgccgggcgggggtg																								rs121912654		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:7578461_7578462delCG	ENST00000420246.2	-	5	600_601	c.468_469delCG	c.(466-471)cgtcfs	p.RV156fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.RV156fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.RV156fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.RV156fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RV156fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.RV156fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.V157fs*13(3)|p.R156R(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.G154_R156delGTR(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156del(1)|p.T155_R156delTR(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCGCGGACGCGGGTGCCGG	0.614		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			37	87	---	---	---	---					-	7578462	CG	-	7578461	7	5	123	1	0	1	0	1	0	0	0	0	16476	536	19	0	829	0	TP53	17	7578461	Frame_Shift_Del	DEL	CG	TCGA-CN-A640-01A-21D-A30E-08		7578461	73616749	65	23787											
NLK	51701	broad.mit.edu	37	chr17	26488204	26488204	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatatgttgtcacagaattGatgcagagtgacctacataa	15	11	9	6	0	1	5	1	2	0	3	1	5	1	5	1	0	2	2	1	0	4	5			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:26488204G>A	ENST00000407008.3	+	4	1381	c.663G>A	c.(661-663)ttG>ttA	p.L221L		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	221	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCACAGAATTGATGCAGAGTG	0.383													3	29					0	0	0	0	A	26488204	G	A	26488204	2	1	123	1	0	0	0	0	0	0	0	1	10536	1281	45	2		2	NLK	17	26488204	Silent	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	18909743	26488204	54707006	66	23788											
SLFN12L	100506736	broad.mit.edu	37	chr17	33807104	33807104	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttttttttctattgttctctCcaagagtgactcttcccaca	7	19	4	11	0	3	2	0	1	3	1	6	2	5	2	2	0	0	1	2	0	2	8			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:33807104C>G	ENST00000260908.7	-	2	242	c.125G>C	c.(124-126)gGa>gCa	p.G42A	SLFN12L_ENST00000449046.1_Missense_Mutation_p.G73A|SLFN12L_ENST00000361112.4_Missense_Mutation_p.G71A	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	74						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						ATTGTTCTCTCCAAGAGTGAC	0.423													7	39					0	0	0	0	G	33807104	C	G	33807104	3	3	123	1	0	0	0	0	1	0	0	0	14823	855	30	2	1653	2	SLFN12L	17	33807104	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	7318900	33807104	47388106	67	23789											
LHX1	3975	broad.mit.edu	37	chr17	35295563	35295563	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacgtgctggacagggcCtggcacgtcaagtgcgtcca	8	8	14	11	3	1	1	1	1	0	0	2	2	2	2	2	3	3	2	2	3	2	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:35295563C>T	ENST00000254457.5	+	1	1480	c.69C>T	c.(67-69)gcC>gcT	p.A23A		NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	23	LIM zinc-binding 1.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				TGGACAGGGCCTGGCACGTCA	0.542													18	98					0	0	0	0	T	35295563	C	T	35295563	2	4	123	1	0	0	0	0	0	0	0	1	8824	668	24	4		4	LHX1	17	35295563	Silent	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	1488459	35295563	45899647	68	23790											
KRTAP3-3	85293	broad.mit.edu	37	chr17	39150381	39150381	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtggtatttatgggtttGattgaaaagaaggataaggc	12	14	13	2	0	1	3	0	2	1	1	1	4	1	4	0	4	0	2	0	4	6	6			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:39150381G>C	ENST00000391586.1	-	0	4					NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3							keratin filament	structural molecule activity			lung(2)|prostate(2)	4		Breast(137;0.00043)				TTATGGGTTTGATTGAAAAGA	0.522													15	80					0	0	0	0	C	39150381	G	C	39150381	1	2	123	1	0	0	0	0	0	0	0	0	8600	1305	45	2		2	KRTAP3-3	17	39150381	Translation_Start_Site	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	3854818	39150381	42044829	69	23791											
USP32	84669	broad.mit.edu	37	chr17	58289457	58289457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaactcatatctttgttgcGaactggaaggacagatagga	13	10	10	8	1	2	1	1	0	1	1	2	5	2	4	1	3	3	1	1	3	5	4			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:58289457G>A	ENST00000300896.4	-	19	2301	c.2107C>T	c.(2107-2109)Cgc>Tgc	p.R703C	USP32_ENST00000592339.1_Missense_Mutation_p.R373C	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	703					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCTTTGTTGCGAACTGGAAGG	0.308													17	62					0	0	0	0	A	58289457	G	A	58289457	3	1	123	1	0	0	0	0	1	0	0	0	17159	1058	37	1	2771	1	USP32	17	58289457	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	19139076	58289457	22905753	70	23792											
LLGL2	3993	broad.mit.edu	37	chr17	73569247	73569247	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtccttaccaacctgggCgacatccaggtggtctcgct	7	9	11	14	2	1	0	0	0	1	0	4	1	3	0	4	3	2	2	4	3	2	1	rs145181414		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:73569247C>T	ENST00000392550.3	+	20	2730	c.2613C>T	c.(2611-2613)ggC>ggT	p.G871G	LLGL2_ENST00000167462.5_Silent_p.G871G|LLGL2_ENST00000577200.1_Silent_p.G871G	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	871					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCAACCTGGGCGACATCCAGG	0.667													4	92					0	0	0	0	T	73569247	C	T	73569247	2	4	123	1	0	0	0	0	0	0	0	1	8889	755	27	1		1	LLGL2	17	73569247	Silent	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	15279790	73569247	7625963	71	23793											
FASN	2194	broad.mit.edu	37	chr17	80051476	80051476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctgggcaggacccacctCtgaagtcgaagaagaaggag	13	4	15	9	1	1	3	0	1	1	2	2	6	1	5	2	4	0	2	2	4	4	0			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:80051476C>T	ENST00000306749.2	-	4	670	c.452G>A	c.(451-453)aGa>aAa	p.R151K		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	151	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGACCCACCTCTGAAGTCGAA	0.647													15	83					0	0	0	0	T	80051476	C	T	80051476	3	4	123	1	0	0	0	0	1	0	0	0	5728	913	32	2	7243	2	FASN	17	80051476	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	6482229	80051476	1143734	72	23794											
LAMA1	284217	broad.mit.edu	37	chr18	6982553	6982553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctggagctgcgctgcaCggccgctttcccgttagaaa	9	9	11	12	4	1	1	0	0	1	1	2	2	2	2	2	2	3	5	2	2	3	2			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr18:6982553C>T	ENST00000389658.3	-	41	5926	c.5833G>A	c.(5833-5835)Gtg>Atg	p.V1945M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1945	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCGCTGCACGGCCGCTTTC	0.552													39	260					0	0	0	0	T	6982553	C	T	6982553	3	4	123	1	0	0	0	0	1	0	0	0	8658	536	19	1	3486	1	LAMA1	18	6982553	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08		6982553	71094695	73	23795											
LRG1	116844	broad.mit.edu	37	chr19	4538218	4538218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccagcatgtccagctgccGcaggccctggaaggcaccgg	7	5	14	15	2	0	0	0	0	0	0	2	1	2	1	5	4	3	4	5	4	1	0	rs150365846	byFrequency	TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:4538218G>A	ENST00000306390.6	-	2	1238	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	260						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGCTGCCGCAGGCCCTGG	0.642													5	297					0	0	0	0	A	4538218	G	A	4538218	3	1	123	1	0	0	0	0	1	0	0	0	9006	1086	38	1	269	1	LRG1	19	4538218	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08		4538218	54590765	74	23796											
SNAPC2	6618	broad.mit.edu	37	chr19	7987597	7987597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatctgtcccctgaaccCgttcctggtgcccctggagc	4	10	12	15	1	1	1	0	1	1	0	3	3	3	3	6	3	3	1	6	3	1	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:7987597C>T	ENST00000221573.6	+	5	1004	c.953C>T	c.(952-954)cCg>cTg	p.P318L	SNAPC2_ENST00000597584.1_Missense_Mutation_p.P81L	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	318					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCCCTGAACCCGTTCCTGGTG	0.697													31	216					0	0	0	0	T	7987597	C	T	7987597	3	4	123	1	0	0	0	0	1	0	0	0	14923	652	23	1	971	1	SNAPC2	19	7987597	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	3449379	7987597	51141386	75	23797											
RGL3	57139	broad.mit.edu	37	chr19	11526735	11526735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcccagcccagaaaggttCggacactgcccaggtccgaa	10	4	11	16	3	0	1	0	0	0	1	2	3	1	2	5	3	2	1	5	3	2	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:11526735C>T	ENST00000380456.3	-	5	578	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	RGL3_ENST00000393423.3_Missense_Mutation_p.R172Q	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	172	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CAGAAAGGTTCGGACACTGCC	0.612													4	160					0	0	0	0	T	11526735	C	T	11526735	3	4	123	1	0	0	0	0	1	0	0	0	13360	884	31	1	1695	1	RGL3	19	11526735	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	3539138	11526735	47602248	76	23798											
CLEC17A	388512	broad.mit.edu	37	chr19	14710549	14710549	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactggcatggcagggctaGctggcctgaagcatgacatt	9	9	14	9	0	0	3	0	3	0	0	0	3	0	3	1	4	2	5	1	4	2	2			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:14710549G>C	ENST00000547437.1	+	11	744	c.667G>C	c.(667-669)Gct>Cct	p.A223P	CLEC17A_ENST00000417570.1_Missense_Mutation_p.A223P|CLEC17A_ENST00000397439.2_Missense_Mutation_p.A206P	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	223						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GGCAGGGCTAGCTGGCCTGAA	0.552													5	25					0	0	0	0	C	14710549	G	C	14710549	3	2	123	1	0	0	0	0	1	0	0	0	3531	971	34	4	654	4	CLEC17A	19	14710549	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	3183814	14710549	44418434	77	23799											
PEPD	5184	broad.mit.edu	37	chr19	33892728	33892728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgttggcgggaaaggagcagGtgatgtcggaagcgaagcag	11	5	19	6	4	0	1	0	1	0	0	1	5	0	4	0	5	3	3	0	5	3	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:33892728G>T	ENST00000244137.6	-	12	899	c.866C>A	c.(865-867)aCc>aAc	p.T289N	PEPD_ENST00000397032.4_Missense_Mutation_p.T248N|PEPD_ENST00000436370.3_Missense_Mutation_p.T225N	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	289					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					AAAGGAGCAGGTGATGTCGGA	0.617													7	35					0.00307968	0.00321242	1	0	T	33892728	G	T	33892728	3	4	123	1	0	0	0	0	1	0	0	0	11799	1261	44	4	631	4	PEPD	19	33892728	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	19182179	33892728	25236255	78	23800											
PAPL	390928	broad.mit.edu	37	chr19	39597658	39597658	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgcgtgtgaaggagtaCgggtatacgcggctgcacat	8	8	16	9	5	0	1	0	1	0	0	0	2	0	2	1	3	4	4	1	3	4	3			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:39597658C>T	ENST00000331256.5	+	12	1459	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		395						extracellular region	acid phosphatase activity|metal ion binding										TGAAGGAGTACGGGTATACGC	0.637													7	81					0	0	0	0	T	39597658	C	T	39597658	2	4	123	1	0	0	0	0	0	0	0	1	11498	547	19	1		1	PAPL	19	39597658	Silent	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	5704930	39597658	19531325	79	23801											
SPTBN4	57731	broad.mit.edu	37	chr19	41008367	41008367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactgcgtgcctgcaaccgtCgcctctttgtgcctcgggag	5	10	12	14	4	1	0	0	0	1	0	3	1	1	1	4	1	6	1	4	1	2	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:41008367C>T	ENST00000352632.3	+	10	1242	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	SPTBN4_ENST00000338932.3_Missense_Mutation_p.R386C|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R386C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R386C|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R386C			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	386					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGCAACCGTCGCCTCTTTGT	0.607													25	126					0	0	0	0	T	41008367	C	T	41008367	3	4	123	1	0	0	0	0	1	0	0	0	15211	884	31	1	1190	1	SPTBN4	19	41008367	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	1410709	41008367	18120616	80	23802											
ZNF586	54807	broad.mit.edu	37	chr19	58290798	58290798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcactcttgcagcatcaGagagttcacactagagaaag	13	10	8	10	0	5	2	3	0	2	2	5	4	5	2	0	0	2	3	0	0	2	4			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:58290798G>A	ENST00000391702.3	+	4	1081	c.714G>A	c.(712-714)caG>caA	p.Q238Q	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000396154.2_Silent_p.Q281Q	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCAGCATCAGAGAGTTCACA	0.433													13	94					0	0	0	0	A	58290798	G	A	58290798	2	1	123	1	0	0	0	0	0	0	0	1	18114	933	33	2		2	ZNF586	19	58290798	Silent	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	17282431	58290798	838185	81	23803											
EMILIN3	90187	broad.mit.edu	37	chr20	39991121	39991121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgtgacagctcctggCgcagggccagctcccggcca	6	5	13	17	2	0	1	0	1	0	0	2	1	2	1	5	3	3	4	5	3	0	0			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr20:39991121C>T	ENST00000332312.3	-	4	1280	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	363						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CAGCTCCTGGCGCAGGGCCAG	0.667													7	31					0	0	0	0	T	39991121	C	T	39991121	3	4	123	1	0	0	0	0	1	0	0	0	5133	768	27	1	1216	1	EMILIN3	20	39991121	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08		39991121	23034399	82	23804											
SDC4	6385	broad.mit.edu	37	chr20	43961690	43961690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggacaacttcagggccgatCatggagtcttccaagtcatc	10	10	10	11	1	4	0	3	0	1	0	6	3	5	2	2	3	1	0	2	3	2	2			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr20:43961690C>T	ENST00000372733.3	-	3	258	c.219G>A	c.(217-219)atG>atA	p.M73I	SDC4_ENST00000537976.1_Start_Codon_SNP_p.M1I	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	73						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CAGGGCCGATCATGGAGTCTT	0.502			T	ROS1	NSCLC								4	84					0	0	0	0	T	43961690	C	T	43961690	3	4	123	1	0	0	0	0	1	0	0	0	14041	826	29	2	389	2	SDC4	20	43961690	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	3970569	43961690	19063830	83	23805											
CCDC157	550631	broad.mit.edu	37	chr22	30762123	30762123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggaagttccctgaccGcatggcctgtgacctcgaca	7	9	10	15	2	0	2	0	2	0	0	3	4	2	3	5	2	0	2	5	2	1	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr22:30762123G>A	ENST00000405659.1	+	3	843	c.134G>A	c.(133-135)cGc>cAc	p.R45H	CCDC157_ENST00000399824.2_Missense_Mutation_p.R45H|CCDC157_ENST00000338306.3_Missense_Mutation_p.R45H			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	45										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TTCCCTGACCGCATGGCCTGT	0.652													5	218					0	0	0	0	A	30762123	G	A	30762123	3	1	123	1	0	0	0	0	1	0	0	0	2815	1087	38	1	136	1	CCDC157	22	30762123	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08		30762123	20542443	84	23806											
SBF1	6305	broad.mit.edu	37	chr22	50897784	50897786	+	In_Frame_Del	DEL	CTC	CTC	-																															accacagcctgcaggtacttCtcctgctccaggctactcga																										TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr22:50897784_50897786delCTC	ENST00000380817.2	-	28	3907_3909	c.3724_3726delGAG	c.(3724-3726)del	p.E1242del	SBF1_ENST00000390679.3_In_Frame_Del_p.E1242del|SBF1_ENST00000348911.6_In_Frame_Del_p.E1243del	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1242	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGTACTTCTCCTGCTCCAGG	0.67													10	51	---	---	---	---					-	50897786	CTC	-	50897784	7	5	123	1	0	1	0	1	0	0	0	0	13944	912	32	0	2011	0	SBF1	22	50897784	In_Frame_Del	DEL	CTC	TCGA-CN-A640-01A-21D-A30E-08	20135661	50897784	406782	85	23807											
BMP15	9210	broad.mit.edu	37	chrX	50658862	50658862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcatctccaactaactcGcttcaatctctcctgccatg	9	12	3	17	1	4	0	2	0	2	0	8	0	5	0	4	0	3	1	4	0	3	2	rs140319105		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:50658862G>T	ENST00000252677.3	+	2	434	c.434G>T	c.(433-435)cGc>cTc	p.R145L		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	145					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CAACTAACTCGCTTCAATCTC	0.498													10	68					0.000673444	0.00070858	1	0	T	50658862	G	T	50658862	3	4	123	1	0	0	0	0	1	0	0	0	1463	1087	38	3	440	3	BMP15	23	50658862	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08		50658862	104611698	86	23808											
EDA	1896	broad.mit.edu	37	chrX	69255284	69255284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccttcctgcagtgcacacGcagcatcgagacgggcaaga	10	5	12	14	3	0	2	0	0	0	2	2	3	1	2	2	1	3	5	2	1	1	1	rs142948132	by1000genomes	TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:69255284G>T	ENST00000374552.4	+	8	1243	c.1001G>T	c.(1000-1002)cGc>cTc	p.R334L	EDA_ENST00000524573.1_Missense_Mutation_p.R329L|EDA_ENST00000374553.2_Missense_Mutation_p.R332L	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	334					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CAGTGCACACGCAGCATCGAG	0.552													5	38					0.000602214	0.000639192	1	0	T	69255284	G	T	69255284	3	4	123	1	0	0	0	0	1	0	0	0	4939	1087	38	3	1167	3	EDA	23	69255284	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	18596422	69255284	86015276	87	23809											
ATRX	546	broad.mit.edu	37	chrX	76890140	76890140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgcatcctgaacctggaGatttctttgtttttttcaca	9	17	7	8	0	2	2	1	1	1	1	3	4	3	2	2	1	2	2	2	1	2	5			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:76890140G>A	ENST00000373344.5	-	17	4968	c.4754C>T	c.(4753-4755)tCt>tTt	p.S1585F	ATRX_ENST00000395603.3_Missense_Mutation_p.S1547F|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1585	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.S1585F(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGAACCTGGAGATTTCTTTGT	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						23	156					0	0	0	0	A	76890140	G	A	76890140	3	1	123	1	0	0	0	0	1	0	0	0	1212	942	33	2	2800	2	ATRX	23	76890140	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	7634856	76890140	78380420	88	23810											
PCDH19	57526	broad.mit.edu	37	chrX	99663451	99663451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggtccagcgcgaagcccgCctctcgcgcgtctttggcca	4	7	14	16	6	2	0	0	0	2	0	4	1	3	0	4	3	2	0	4	3	1	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:99663451C>T	ENST00000373034.4	-	1	1820	c.145G>A	c.(145-147)Gcg>Acg	p.A49T	PCDH19_ENST00000420881.2_Missense_Mutation_p.A49T|PCDH19_ENST00000255531.7_Missense_Mutation_p.A49T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	49	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCGAAGCCCGCCTCTCGCGCG	0.637													13	23					0	0	0	0	T	99663451	C	T	99663451	3	4	123	1	0	0	0	0	1	0	0	0	11585	739	26	4	3325	4	PCDH19	23	99663451	Missense_Mutation	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	22773311	99663451	55607109	89	23811											
THOC2	57187	broad.mit.edu	37	chrX	122805561	122805561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaataagattaaattgtaGaagtactgctgcaactctgt	15	13	7	6	0	2	2	1	0	1	2	2	2	2	2	0	0	4	4	0	0	8	5			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:122805561G>C	ENST00000245838.8	-	9	851	c.820C>G	c.(820-822)Cta>Gta	p.L274V	THOC2_ENST00000355725.4_Missense_Mutation_p.L274V|THOC2_ENST00000491737.1_Missense_Mutation_p.L159V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	274					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTAAATTGTAGAAGTACTGCT	0.353													15	72					0	0	0	0	C	122805561	G	C	122805561	3	2	123	1	0	0	0	0	1	0	0	0	15959	933	33	2	4081	2	THOC2	23	122805561	Missense_Mutation	SNP	G	TCGA-CN-A640-01A-21D-A30E-08	23142110	122805561	32464999	90	23812											
FLNA	2316	broad.mit.edu	37	chrX	153580772	153580772	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcctcatgggtcttgccCgatgggctggtcacctgggc	3	10	15	13	2	3	0	2	0	1	0	4	1	3	0	3	5	1	1	3	5	0	1			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:153580772C>T	ENST00000422373.1	-	40	6770	c.6522G>A	c.(6520-6522)tcG>tcA	p.S2174S	FLNA_ENST00000344736.4_Silent_p.S2142S|FLNA_ENST00000369850.3_Silent_p.S2182S|FLNA_ENST00000369856.3_Silent_p.S315S|FLNA_ENST00000360319.4_Silent_p.S2174S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2182					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGTCTTGCCCGATGGGCTGG	0.597													4	176					0	0	0	0	T	153580772	C	T	153580772	2	4	123	1	0	0	0	0	0	0	0	1	5978	639	23	1		1	FLNA	23	153580772	Silent	SNP	C	TCGA-CN-A640-01A-21D-A30E-08	30775211	153580772	1689788	91	23813											
CCNL2	81669	broad.mit.edu	37	chr1	1328777	1328777	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaagctcaactcaccAtgaggtctggaccaggtgtt	12	8	11	10	0	3	1	2	1	1	0	3	3	3	3	2	4	2	2	2	4	3	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:1328777A>G	ENST00000400809.3	-	5	663	c.659_splice	c.e5+1	p.W220_splice	CCNL2_ENST00000408952.5_5'UTR|CCNL2_ENST00000408918.4_Splice_Site_p.W220_splice	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	220	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TCAACTCACCATGAGGTCTGG	0.502													29	77					0	0	0	0	G	1328777	A	G	1328777	5	3	124	1	0	0	0	0	0	0	1	0	2961	231	8	5	958	5	CCNL2	1	1328777	Splice_Site	SNP	A	TCGA-CN-A641-01A-11D-A30E-08		1328777	247921844	1	23814											
MEGF6	1953	broad.mit.edu	37	chr1	3409312	3409312	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggtgcagctgggcccAaactggccccttctgcaatc	7	8	12	14	0	1	0	0	0	1	0	2	0	1	0	3	3	5	4	3	3	2	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:3409312A>C	ENST00000356575.4	-	35	4633	c.4407T>G	c.(4405-4407)ttT>ttG	p.F1469L	MEGF6_ENST00000294599.4_Missense_Mutation_p.F1157L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1469	EGF-like 27.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGCTGGGCCCAAACTGGCCCC	0.662													12	25					0	0	0	0	C	3409312	A	C	3409312	3	2	124	1	0	0	0	0	1	0	0	0	9531	127	5	5	230	5	MEGF6	1	3409312	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	2080535	3409312	245841309	2	23815											
PRAMEF12	390999	broad.mit.edu	37	chr1	12835781	12835781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctccccagaggccctgaGtaagagacgaacagcaggga	13	4	12	12	1	1	3	0	1	1	2	2	6	1	4	3	2	2	2	3	2	2	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:12835781G>T	ENST00000357726.4	+	2	410	c.383G>T	c.(382-384)aGt>aTt	p.S128I		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	128										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCCCTGAGTAAGAGACGA	0.547													78	194					5.61366e-43	8.1057e-43	1	0	T	12835781	G	T	12835781	3	4	124	1	0	0	0	0	1	0	0	0	12504	1029	36	4	389	4	PRAMEF12	1	12835781	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	9426469	12835781	236414840	3	23816											
ARID1A	8289	broad.mit.edu	37	chr1	27099913	27099913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccctacagtcgtgctgcCggccctgggctaggaaatgt	7	8	13	13	2	0	0	0	0	0	0	1	2	0	1	4	3	3	2	4	3	3	2	rs142429183		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:27099913C>T	ENST00000324856.7	+	15	4163	c.3792C>T	c.(3790-3792)gcC>gcT	p.A1264A	ARID1A_ENST00000457599.2_Silent_p.A1264A|ARID1A_ENST00000374152.2_Silent_p.A881A|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1264					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCGTGCTGCCGGCCCTGGGC	0.607			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								37	58					0	0	0	0	T	27099913	C	T	27099913	2	4	124	1	0	0	0	0	0	0	0	1	915	639	23	1		1	ARID1A	1	27099913	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	14264132	27099913	222150708	4	23817											
CSMD2	114784	broad.mit.edu	37	chr1	34090837	34090837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagctgcactgcgtggCgctggttcgaggaaccgctg	7	7	15	12	4	0	1	0	0	0	1	1	3	0	2	1	3	4	5	1	3	1	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:34090837C>T	ENST00000373381.4	-	34	5490	c.5314G>A	c.(5314-5316)Gcc>Acc	p.A1772T	CSMD2_ENST00000373380.1_Missense_Mutation_p.A645T|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1732	Sushi 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTGCGTGGCGCTGGTTCGA	0.632													4	15					0	0	0	0	T	34090837	C	T	34090837	3	4	124	1	0	0	0	0	1	0	0	0	3977	768	27	1	5413	1	CSMD2	1	34090837	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	6990924	34090837	215159784	5	23818											
MACF1	23499	broad.mit.edu	37	chr1	39889794	39889794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcagcagagctggctgataGagagaaaatcactggacagc	14	6	13	8	0	2	4	2	1	0	3	2	6	2	5	0	2	3	3	0	2	3	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:39889794G>A	ENST00000564288.1	+	61	17021	c.16244G>A	c.(16243-16245)aGa>aAa	p.R5415K	MACF1_ENST00000539005.1_Missense_Mutation_p.R3332K|MACF1_ENST00000289893.4_Missense_Mutation_p.R3855K|MACF1_ENST00000317713.7_Missense_Mutation_p.R3353K|MACF1_ENST00000372915.3_Missense_Mutation_p.R5420K|MACF1_ENST00000545844.1_Missense_Mutation_p.R3353K|MACF1_ENST00000567887.1_Missense_Mutation_p.R5452K|MACF1_ENST00000361689.2_Missense_Mutation_p.R3353K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5420					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGCTGATAGAGAGAAAATC	0.483													29	63					0	0	0	0	A	39889794	G	A	39889794	3	1	124	1	0	0	0	0	1	0	0	0	9209	942	33	2	16431	2	MACF1	1	39889794	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	5798957	39889794	209360827	6	23819											
PPIH	10465	broad.mit.edu	37	chr1	43130566	43130566	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagtcgccagtatttaccgGgggccatttgcagatgaaaa	11	9	13	8	2	0	2	0	1	0	1	1	3	0	3	3	3	2	2	3	3	4	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:43130566G>A	ENST00000455203.2	+	4	575	c.147G>A	c.(145-147)cgG>cgA	p.R49R	PPIH_ENST00000372550.1_Silent_p.R49R|PPIH_ENST00000304979.3_Silent_p.R92R			O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	92	PPIase cyclophilin-type.				protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	GTATTTACCGGGGGCCATTTG	0.488													11	41					0	0	0	0	A	43130566	G	A	43130566	2	1	124	1	0	0	0	0	0	0	0	1	12401	1219	43	4		4	PPIH	1	43130566	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	3240772	43130566	206120055	7	23820											
SCP2	6342	broad.mit.edu	37	chr1	53416550	53416550	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttatggcccgccagctgaTtcagggtggtaaggagtgct	7	11	15	8	1	1	1	1	1	0	0	1	2	1	2	2	4	2	4	2	4	2	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:53416550T>C	ENST00000371514.3	+	4	491	c.323T>C	c.(322-324)aTt>aCt	p.I108T	SCP2_ENST00000407246.2_Missense_Mutation_p.I84T|SCP2_ENST00000371509.4_Intron|SCP2_ENST00000528311.1_Missense_Mutation_p.I27T|SCP2_ENST00000371513.5_Intron	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	108					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CGCCAGCTGATTCAGGGTGGT	0.378													42	93					0	0	0	0	C	53416550	T	C	53416550	3	2	124	1	0	0	0	0	1	0	0	0	14021	1493	52	5	337	5	SCP2	1	53416550	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	10285984	53416550	195834071	8	23821											
LDLRAD1	388633	broad.mit.edu	37	chr1	54483764	54483764	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacctggggacagctctcaCctgggggaagaccttgttca	8	9	12	12	0	3	1	3	0	1	1	4	3	3	3	3	4	1	2	3	4	1	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:54483764C>T	ENST00000371360.1	-	1	39		c.e1+1		LDLRAD1_ENST00000545928.1_Splice_Site|LDLRAD1_ENST00000420619.1_Splice_Site|LDLRAD1_ENST00000371362.3_Splice_Site	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1							integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						ACAGCTCTCACCTGGGGGAAG	0.577													15	28					0	0	0	0	T	54483764	C	T	54483764	5	4	124	1	0	0	0	0	0	0	1	0	8758	521	18	4	619	4	LDLRAD1	1	54483764	Splice_Site	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	1067214	54483764	194766857	9	23822											
KANK4	163782	broad.mit.edu	37	chr1	62740602	62740602	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcctgcttggcccttctGtggataggaattcttttgat	5	17	11	8	0	2	1	0	1	2	0	2	3	2	3	2	4	1	1	2	4	2	7			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:62740602G>A	ENST00000371153.4	-	3	552	c.174C>T	c.(172-174)caC>caT	p.H58H	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	58										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGGCCCTTCTGTGGATAGGAA	0.522													75	144					0	0	0	0	A	62740602	G	A	62740602	2	1	124	1	0	0	0	0	0	0	0	1	8032	1368	48	4		4	KANK4	1	62740602	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	8256838	62740602	186510019	10	23823											
LRRC40	55631	broad.mit.edu	37	chr1	70618226	70618226	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atttccttcagttctaccatCctgaaacaaaaataatttta	15	15	2	9	0	2	1	1	1	1	0	4	1	4	1	3	0	2	1	3	0	6	7			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:70618226C>T	ENST00000370952.3	-	12	1408	c.1328_splice	c.e12-1	p.R443_splice		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	443										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GTTCTACCATCCTGAAACAAA	0.323													21	35					0	0	0	0	T	70618226	C	T	70618226	5	4	124	1	0	0	0	0	0	0	1	0	9062	869	30	2	495	2	LRRC40	1	70618226	Splice_Site	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	7877624	70618226	178632395	11	23824											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	77094303	77094303	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctttttttttcttttctAggacagaagggtatagaaaa	11	19	7	4	0	3	2	0	0	3	2	3	3	3	3	0	2	0	1	0	2	6	10			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:77094303A>G	ENST00000328299.3	+	5	879		c.e5-1			NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3						protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						tttcttttctAGGACAGAAGG	0.363													22	30					0	0	0	0	G	77094303	A	G	77094303	5	3	124	1	0	0	0	0	0	0	1	0	15315	434	15	5	762	5	ST6GALNAC3	1	77094303	Splice_Site	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	6476077	77094303	172156318	12	23825											
LMO4	8543	broad.mit.edu	37	chr1	87797826	87797826	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatgccatggacagctattGgcacagccggtgcctcaagt	9	9	11	12	1	1	0	1	0	0	0	1	1	1	1	3	3	4	2	3	3	3	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:87797826G>C	ENST00000370544.5	+	2	908	c.128G>C	c.(127-129)tGg>tCg	p.W43S	LMO4_ENST00000370542.1_Missense_Mutation_p.W43S|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	43	LIM zinc-binding 1.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GACAGCTATTGGCACAGCCGG	0.632													22	47					0	0	0	0	C	87797826	G	C	87797826	3	2	124	1	0	0	0	0	1	0	0	0	8909	1357	47	4	130	4	LMO4	1	87797826	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	10703523	87797826	161452795	13	23826											
LRRC8B	23507	broad.mit.edu	37	chr1	90058601	90058601	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgtgcttagacaaatgttGacttaaagaaaagagacccg	16	8	10	7	2	0	4	0	1	0	3	0	6	0	4	1	0	1	2	1	0	6	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:90058601G>A	ENST00000330947.2	+	6	2771	c.2411G>A	c.(2410-2412)tGa>tAa	p.*804*	LRRC8B_ENST00000439853.1_Silent_p.*804*|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Silent_p.*804*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	0						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GACAAATGTTGACTTAAAGAA	0.448													26	61					0	0	0	0	A	90058601	G	A	90058601	2	1	124	1	0	0	0	0	0	0	0	1	9086	1285	45	2		2	LRRC8B	1	90058601	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	2260775	90058601	159192020	14	23827											
DPYD	1806	broad.mit.edu	37	chr1	98039334	98039334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctttaggatcactcagaaCtgaaccaaaggcactgatga	15	8	8	10	0	2	4	2	3	0	1	2	5	2	5	2	2	2	1	2	2	4	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:98039334C>T	ENST00000370192.3	-	11	1421	c.1321G>A	c.(1321-1323)Gtt>Att	p.V441I		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	441					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCACTCAGAACTGAACCAAAG	0.418													41	101					0	0	0	0	T	98039334	C	T	98039334	3	4	124	1	0	0	0	0	1	0	0	0	4781	565	20	4	1808	4	DPYD	1	98039334	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	7980733	98039334	151211287	15	23828											
COL11A1	1301	broad.mit.edu	37	chr1	103544216	103544216	+	Frame_Shift_Del	DEL	C	C	-																															tattattttgttacttacttCccgtcagcgatgttaacagt																										TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:103544216delC	ENST00000358392.2	-	3	803	c.486delG	c.(484-486)ggfs	p.G162fs	COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G162fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G162fs|COL11A1_ENST00000370096.3_Frame_Shift_Del_p.G162fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	162	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTACTTACTTCCCGTCAGCGA	0.358													22	42	---	---	---	---					-	103544216	C	-	103544216	7	5	124	1	0	1	0	1	0	0	0	0	3697	842	30	0	5351	0	COL11A1	1	103544216	Frame_Shift_Del	DEL	C	TCGA-CN-A641-01A-11D-A30E-08	5504882	103544216	145706405	16	23829											
KCNA3	3738	broad.mit.edu	37	chr1	111217053	111217053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggtcgcccagcagcgtctCggggaactggcaaagggtct	7	6	17	11	3	2	0	0	0	2	0	4	1	2	1	1	6	3	2	1	6	2	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:111217053C>T	ENST00000369769.2	-	1	602	c.379G>A	c.(379-381)Gag>Aag	p.E127K		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	127						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCAGCGTCTCGGGGAACTGG	0.672													53	107					0	0	0	0	T	111217053	C	T	111217053	3	4	124	1	0	0	0	0	1	0	0	0	8057	893	31	1	1352	1	KCNA3	1	111217053	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	7672837	111217053	138033568	17	23830											
DDX20	11218	broad.mit.edu	37	chr1	112304936	112304936	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgaagcactttcattgcAgagtcctcatttccacagat	12	12	6	11	0	2	3	2	1	0	2	4	3	4	3	2	0	3	2	2	0	2	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:112304936A>T	ENST00000369702.4	+	8	1701	c.1081A>T	c.(1081-1083)Aga>Tga	p.R361*	DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	361	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTCATTGCAGAGTCCTCAT	0.353													29	74					0	0	0	0	T	112304936	A	T	112304936	4	4	124	1	0	0	0	0	0	1	0	0	4380	180	7	5	1111	5	DDX20	1	112304936	Nonsense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	1087883	112304936	136945685	18	23831											
SPAG17	200162	broad.mit.edu	37	chr1	118623782	118623782	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctgctctaacagctgtctAttatcagggactgagagttt	9	14	9	9	0	3	1	1	1	2	1	4	3	4	2	1	1	3	3	1	1	3	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:118623782A>G	ENST00000336338.5	-	15	2216	c.2151T>C	c.(2149-2151)aaT>aaC	p.N717N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	717						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACAGCTGTCTATTATCAGGGA	0.433													36	94					0	0	0	0	G	118623782	A	G	118623782	2	3	124	1	0	0	0	0	0	0	0	1	15069	446	16	5		5	SPAG17	1	118623782	Silent	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	6318846	118623782	130626839	19	23832											
OTUD7B	56957	broad.mit.edu	37	chr1	149915899	149915899	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgcatttggtctgagttgGgggaaggccccggagacctc	6	11	15	9	1	1	2	0	1	1	1	2	4	1	3	3	5	1	2	3	5	1	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:149915899G>C	ENST00000369135.3	-	12	2683	c.2389C>G	c.(2389-2391)Cca>Gca	p.P797A		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	797					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTCTGAGTTGGGGGAAGGCCC	0.542													54	123					0	0	0	0	C	149915899	G	C	149915899	3	2	124	1	0	0	0	0	1	0	0	0	11390	1232	43	4	146	4	OTUD7B	1	149915899	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	31292117	149915899	99334722	20	23833											
PSMD4	5710	broad.mit.edu	37	chr1	151238835	151238835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccagcaagagtttggccGcactgggcttcctgacctaa	9	8	11	13	1	0	2	0	1	0	1	1	2	1	2	4	2	2	4	4	2	2	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:151238835G>A	ENST00000368884.3	+	8	895	c.815G>A	c.(814-816)cGc>cAc	p.R272H	PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	272					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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 transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTTGGCCGCACTGGGCTT	0.547													5	176					0	0	0	0	A	151238835	G	A	151238835	3	1	124	1	0	0	0	0	1	0	0	0	12779	1087	38	1	845	1	PSMD4	1	151238835	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	1322936	151238835	98011786	21	23834											
FLG	2312	broad.mit.edu	37	chr1	152276039	152276039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacctatctaccgattgctCgtggtaggatccctgtcttc	7	13	9	12	2	2	1	0	0	2	1	5	3	3	2	3	2	2	2	3	2	3	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:152276039C>T	ENST00000368799.1	-	3	11358	c.11323G>A	c.(11323-11325)Gag>Aag	p.E3775K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3775	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E3775*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGATTGCTCGTGGTAGGAT	0.597									Ichthyosis				6	754					0	0	0	0	T	152276039	C	T	152276039	3	4	124	1	0	0	0	0	1	0	0	0	5967	893	31	1	866	1	FLG	1	152276039	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	1037204	152276039	96974582	22	23835											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													4	97					0	0	0	0	T	153907309	C	T	153907309	2	4	124	1	0	0	0	0	0	0	0	1	4471	796	28	4		4	DENND4B	1	153907309	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	1631270	153907309	95343312	23	23836											
ASH1L	55870	broad.mit.edu	37	chr1	155311735	155311735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagactcaccgagaaatCttttttgggagtgagcttct	11	12	11	7	1	3	3	1	1	2	2	3	6	3	4	1	2	1	1	1	2	2	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:155311735C>A	ENST00000368346.3	-	25	9106	c.8467G>T	c.(8467-8469)Gat>Tat	p.D2823Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2818Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2823					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACCGAGAAATCTTTTTTGGGA	0.448													37	101					9.62906e-15	1.18071e-14	1	0	A	155311735	C	A	155311735	3	1	124	1	0	0	0	0	1	0	0	0	1045	913	32	2	458	2	ASH1L	1	155311735	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	1404426	155311735	93938886	24	23837											
SPTA1	6708	broad.mit.edu	37	chr1	158587333	158587333	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaatacttactttattTgcttccagctgagattccag	13	14	5	9	0	0	1	0	1	0	1	2	2	2	1	2	0	5	2	2	0	6	7			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:158587333T>G	ENST00000368148.3	-	47	6774	c.6594A>C	c.(6592-6594)gcA>gcC	p.A2198A	SPTA1_ENST00000368147.3_Silent_p.A2195A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2198					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTACTTTATTTGCTTCCAGCT	0.343													6	33					0	0	0	0	G	158587333	T	G	158587333	2	3	124	1	0	0	0	0	0	0	0	1	15206	1799	63	5		5	SPTA1	1	158587333	Silent	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	3275598	158587333	90663288	25	23838											
OR6K2	81448	broad.mit.edu	37	chr1	158670267	158670267	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcactgataaaagtatacAtgggagtgtggaggtgagta	14	9	15	3	0	0	2	0	2	0	0	0	5	0	4	0	3	2	3	0	3	5	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:158670267A>G	ENST00000359610.2	-	1	219	c.176T>C	c.(175-177)aTg>aCg	p.M59T		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAAAGTATACATGGGAGTGTG	0.448													25	84					0	0	0	0	G	158670267	A	G	158670267	3	3	124	1	0	0	0	0	1	0	0	0	11273	217	8	5	802	5	OR6K2	1	158670267	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	82934	158670267	90580354	26	23839											
OR6N2	81442	broad.mit.edu	37	chr1	158746766	158746766	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcagcacagccccaatgatCcttgcataagaaatcatgat	14	10	6	11	0	2	3	2	2	0	1	3	3	3	3	3	0	3	2	3	0	3	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:158746766C>A	ENST00000339258.1	-	1	659	c.660G>T	c.(658-660)agG>agT	p.R220S		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CCCCAATGATCCTTGCATAAG	0.418													17	40					9.7654e-05	0.000103339	1	0	A	158746766	C	A	158746766	3	1	124	1	0	0	0	0	1	0	0	0	11278	854	30	2	296	2	OR6N2	1	158746766	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	76499	158746766	90503855	27	23840											
CRP	1401	broad.mit.edu	37	chr1	159683862	159683862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagaggcttcgttaacGgtgctttgagggatacatag	9	13	13	6	2	0	2	0	2	0	1	1	4	0	3	0	3	3	3	0	3	3	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:159683862G>A	ENST00000255030.5	-	2	231	c.128C>T	c.(127-129)cCg>cTg	p.P43L	CRP_ENST00000368110.1_Missense_Mutation_p.P43L|CRP_ENST00000368112.1_Missense_Mutation_p.P43L|CRP_ENST00000437342.1_Intron|CRP_ENST00000368111.1_Missense_Mutation_p.P43L|CRP_ENST00000343919.2_Missense_Mutation_p.P43L	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	43	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CTTCGTTAACGGTGCTTTGAG	0.483													41	92					0	0	0	0	A	159683862	G	A	159683862	3	1	124	1	0	0	0	0	1	0	0	0	3925	1116	39	1	550	1	CRP	1	159683862	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	937096	159683862	89566759	28	23841											
NME7	29922	broad.mit.edu	37	chr1	169279307	169279307	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattgcatctggtttaattAgggctagcgttctataagga	11	15	10	5	1	2	0	0	0	2	0	2	1	2	1	0	3	2	4	0	3	6	9			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:169279307A>T	ENST00000367811.3	-	4	546	c.290T>A	c.(289-291)cTa>cAa	p.L97Q	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.L61Q	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	97					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TGGTTTAATTAGGGCTAGCGT	0.299													16	36					0	0	0	0	T	169279307	A	T	169279307	3	4	124	1	0	0	0	0	1	0	0	0	10566	420	15	5	876	5	NME7	1	169279307	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	9595445	169279307	79971314	29	23842											
MYOC	4653	broad.mit.edu	37	chr1	171621464	171621464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaattggtggaggaggctCtccagggagctgagtcgagc	8	8	17	8	1	2	1	1	1	1	0	4	5	2	4	1	5	2	2	1	5	1	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:171621464C>A	ENST00000037502.5	-	1	347	c.288G>T	c.(286-288)gaG>gaT	p.E96D		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	96					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGAGGAGGCTCTCCAGGGAGC	0.632													33	72					2.08457e-15	2.62911e-15	1	0	A	171621464	C	A	171621464	3	1	124	1	0	0	0	0	1	0	0	0	10156	912	32	2	1238	2	MYOC	1	171621464	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	2342157	171621464	77629157	30	23843											
C1orf105	92346	broad.mit.edu	37	chr1	172414217	172414217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctatttccctctaggcttCtgttccaaaatttgacaaga	10	15	5	11	0	3	2	0	1	3	1	5	2	5	2	2	1	0	2	2	1	5	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:172414217C>T	ENST00000367727.4	+	2	224	c.26C>T	c.(25-27)tCt>tTt	p.S9F		NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	9										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CTCTAGGCTTCTGTTCCAAAA	0.423													12	28					0	0	0	0	T	172414217	C	T	172414217	3	4	124	1	0	0	0	0	1	0	0	0	1998	913	32	2	32	2	C1orf105	1	172414217	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	792753	172414217	76836404	31	23844											
TNN	63923	broad.mit.edu	37	chr1	175092758	175092758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcacgtgtgggcccagaaggGggcccaggagagcaagaagg	11	2	19	9	1	0	3	0	0	0	3	0	4	0	3	2	5	1	2	2	5	3	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:175092758G>T	ENST00000239462.4	+	12	2986	c.2873G>T	c.(2872-2874)gGg>gTg	p.G958V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	958	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.G958V(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCCAGAAGGGGGCCCAGGAG	0.617													42	63					8.05343e-35	1.14678e-34	1	0	T	175092758	G	T	175092758	3	4	124	1	0	0	0	0	1	0	0	0	16417	1232	43	4	2915	4	TNN	1	175092758	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	2678541	175092758	74157863	32	23845											
HMCN1	83872	broad.mit.edu	37	chr1	186037038	186037038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatccttaacagccctaCatctttggtctgtgaagctt	8	15	7	11	0	3	1	1	1	2	0	4	1	4	1	2	1	4	1	2	1	3	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:186037038C>T	ENST00000271588.4	+	50	8007	c.7778C>T	c.(7777-7779)aCa>aTa	p.T2593I	HMCN1_ENST00000367492.2_Missense_Mutation_p.T2593I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2593	Ig-like C2-type 24.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACAGCCCTACATCTTTGGTC	0.403													36	62					0	0	0	0	T	186037038	C	T	186037038	3	4	124	1	0	0	0	0	1	0	0	0	7270	478	17	4	7976	4	HMCN1	1	186037038	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	10944280	186037038	63213583	33	23846											
RGS18	64407	broad.mit.edu	37	chr1	192153620	192153620	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	accaacaaatcttaggagacGatcacgctcatttacctgca	14	9	6	12	2	3	1	2	0	1	1	3	3	3	1	2	1	3	2	2	1	4	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:192153620G>C	ENST00000367460.3	+	5	825	c.644G>C	c.(643-645)cGa>cCa	p.R215P		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	215					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTAGGAGACGATCACGCTCA	0.358													27	59					0	0	0	0	C	192153620	G	C	192153620	3	2	124	1	0	0	0	0	1	0	0	0	13383	1058	37	3	662	3	RGS18	1	192153620	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	6116582	192153620	57097001	34	23847											
CFHR5	81494	broad.mit.edu	37	chr1	196953185	196953185	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaaattatttgcaacacAggatacagccttcaaaacaa	18	9	5	9	0	1	0	1	0	0	0	1	1	1	1	1	1	6	2	1	1	8	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:196953185A>T	ENST00000367414.5	+	3	476	c.420A>T	c.(418-420)acA>acT	p.T140T	CFHR5_ENST00000256785.4_Silent_p.T116T	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	116	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTGCAACACAGGATACAGCC	0.403													33	55					0	0	0	0	T	196953185	A	T	196953185	2	4	124	1	0	0	0	0	0	0	0	1	3317	175	7	5		5	CFHR5	1	196953185	Silent	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	4799565	196953185	52297436	35	23848											
F13B	2165	broad.mit.edu	37	chr1	197026221	197026221	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggagaaggtagccgctttTacatgcatatgtcactttat	11	14	9	7	1	1	1	1	0	0	1	1	2	1	1	1	2	3	3	1	2	5	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:197026221T>A	ENST00000367412.1	-	7	1136	c.1093A>T	c.(1093-1095)Aaa>Taa	p.K365*		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	365	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAGCCGCTTTTACATGCATAT	0.408													19	29					0	0	0	0	A	197026221	T	A	197026221	4	1	124	1	0	0	0	0	0	1	0	0	5379	1763	61	5	916	5	F13B	1	197026221	Nonsense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	73036	197026221	52224400	36	23849											
KIF14	9928	broad.mit.edu	37	chr1	200555345	200555345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatggcggatgctatggTcttctaaagcctaattgata	10	14	10	7	1	2	1	0	1	2	0	2	2	2	2	1	3	3	2	1	3	5	7			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:200555345T>C	ENST00000367350.4	-	19	3563	c.3125A>G	c.(3124-3126)gAc>gGc	p.D1042G		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1042	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GATGCTATGGTCTTCTAAAGC	0.348													31	53					0	0	0	0	C	200555345	T	C	200555345	3	2	124	1	0	0	0	0	1	0	0	0	8327	1667	58	5	1869	5	KIF14	1	200555345	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	3529124	200555345	48695276	37	23850											
PGBD2	267002	broad.mit.edu	37	chr1	249210841	249210841	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatccactcaaaggtgaagTctgcaaagctgcttgaggtt	11	11	11	8	0	2	2	1	2	1	0	3	2	3	2	1	2	3	5	1	2	4	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:249210841T>A	ENST00000539153.1	+	4	304	c.49T>A	c.(49-51)Tct>Act	p.S17T	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.S20T|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	20										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAAGGTGAAGTCTGCAAAGCT	0.493													14	50					0	0	0	0	A	249210841	T	A	249210841	3	1	124	1	0	0	0	0	1	0	0	0	11853	1667	58	5	64	5	PGBD2	1	249210841	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	48655496	249210841	39780	38	23851											
PUM2	23369	broad.mit.edu	37	chr2	20451388	20451388	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaataggtcctaggtcCgggctattcttcaaataata	11	12	7	11	1	2	0	1	0	1	0	5	0	5	0	4	3	0	1	4	3	7	7			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:20451388C>A	ENST00000361078.2	-	20	3181	c.3159G>T	c.(3157-3159)ccG>ccT	p.P1053P	PUM2_ENST00000319801.5_Silent_p.P974P|PUM2_ENST00000403432.1_Silent_p.P1051P|PUM2_ENST00000536417.1_Silent_p.P995P|PUM2_ENST00000338086.5_Silent_p.P1051P			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	1053					regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCTAGGTCCGGGCTATTCT	0.378													37	110					2.20474e-14	2.68214e-14	1	0	A	20451388	C	A	20451388	2	1	124	1	0	0	0	0	0	0	0	1	12908	639	23	3		3	PUM2	2	20451388	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08		20451388	222747985	39	23852											
DYSF	8291	broad.mit.edu	37	chr2	71762412	71762412	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcagtttccctccatgtgCgaaaaaatgaggattcgtat	11	12	8	10	2	1	1	1	1	0	0	4	3	3	2	3	1	1	2	3	1	4	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:71762412C>T	ENST00000258104.3	+	15	1645	c.1368C>T	c.(1366-1368)tgC>tgT	p.C456C	DYSF_ENST00000413539.2_Silent_p.C487C|DYSF_ENST00000409582.3_Silent_p.C487C|DYSF_ENST00000410041.1_Silent_p.C488C|DYSF_ENST00000409366.1_Silent_p.C457C|DYSF_ENST00000394120.2_Silent_p.C457C|DYSF_ENST00000409744.1_Silent_p.C457C|DYSF_ENST00000410020.3_Silent_p.C488C|DYSF_ENST00000429174.2_Silent_p.C456C|DYSF_ENST00000409762.1_Silent_p.C487C|DYSF_ENST00000409651.1_Silent_p.C488C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	456	C2 3.		C -> W (in MMD1).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCCATGTGCGAAAAAATGA	0.522													35	101					0	0	0	0	T	71762412	C	T	71762412	2	4	124	1	0	0	0	0	0	0	0	1	4895	776	27	1		1	DYSF	2	71762412	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	51311024	71762412	171436961	40	23853											
SNRNP200	23020	broad.mit.edu	37	chr2	96950195	96950195	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgggaaagtatgtcccaCttctcaggggtgctgatgat	8	10	13	10	2	1	2	1	2	1	0	3	3	2	3	2	3	1	2	2	3	2	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:96950195C>T	ENST00000323853.5	-	31	4370	c.4293G>A	c.(4291-4293)aaG>aaA	p.K1431K	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1431	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTATGTCCCACTTCTCAGGGG	0.557													37	98					0	0	0	0	T	96950195	C	T	96950195	2	4	124	1	0	0	0	0	0	0	0	1	14940	564	20	4		4	SNRNP200	2	96950195	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	25187783	96950195	146249178	41	23854											
NCKAP5	344148	broad.mit.edu	37	chr2	133542517	133542517	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacatagagattttccaaAccccacaaggacatccaggt	14	7	6	14	0	0	1	0	0	0	1	2	3	2	2	5	2	1	0	5	2	3	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:133542517A>C	ENST00000409261.1	-	14	2240	c.1867T>G	c.(1867-1869)Ttt>Gtt	p.F623V	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.F623V|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	623							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GATTTTCCAAACCCCACAAGG	0.478													25	54					0	0	0	0	C	133542517	A	C	133542517	3	2	124	1	0	0	0	0	1	0	0	0	10293	43	2	5	3890	5	NCKAP5	2	133542517	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	36592322	133542517	109656856	42	23855											
TTC30B	150737	broad.mit.edu	37	chr2	178415579	178415579	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattctttccaacatgcattCtttcttcttccaggggttgt	6	19	6	10	0	4	0	0	0	4	0	6	0	6	0	2	2	2	2	2	2	2	8			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:178415579C>G	ENST00000408939.2	-	1	2163	c.1913G>C	c.(1912-1914)aGa>aCa	p.R638T		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	638					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			AACATGCATTCTTTCTTCTTC	0.363													43	102					0	0	0	0	G	178415579	C	G	178415579	3	3	124	1	0	0	0	0	1	0	0	0	16795	913	32	2	88	2	TTC30B	2	178415579	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	44873062	178415579	64783794	43	23856											
TTN	7273	broad.mit.edu	37	chr2	179404190	179404190	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttctgctgaaacacggaAatggtattctacattctctt	10	16	7	8	1	3	1	0	1	3	0	4	2	3	2	0	2	3	3	0	2	4	7			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:179404190A>C	ENST00000589042.1	-	352	98826	c.98602T>G	c.(98602-98604)Ttc>Gtc	p.F32868V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F30300V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F31227V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F23803V|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F23995V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F23928V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31227							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)			GAAACACGGAAATGGTATTCT	0.453													44	85					0	0	0	0	C	179404190	A	C	179404190	3	2	124	1	0	0	0	0	1	0	0	0	16831	14	1	5	9421	5	TTN	2	179404190	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	988611	179404190	63795183	44	23857											
TTN	7273	broad.mit.edu	37	chr2	179428837	179428837	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatattgtcctccatcagtcCgtatacagtctttgacaaca	11	14	5	11	1	2	1	1	1	1	0	5	1	5	1	3	0	2	1	3	0	5	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:179428837C>A	ENST00000589042.1	-	326	82246	c.82022G>T	c.(82021-82023)cGg>cTg	p.R27341L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24773L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R25700L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18276L|TTN_ENST00000342175.6_Missense_Mutation_p.R18468L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18401L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25700	Fibronectin type-III 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R24773L(1)|p.R18276L(1)|p.R24771L(1)|p.R18468L(1)|p.R18401L(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)			TCCATCAGTCCGTATACAGTC	0.393													71	159					1.25706e-45	1.82362e-45	1	0	A	179428837	C	A	179428837	3	1	124	1	0	0	0	0	1	0	0	0	16831	652	23	3	26105	3	TTN	2	179428837	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	24647	179428837	63770536	45	23858											
TTN	7273	broad.mit.edu	37	chr2	179443831	179443831	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggggatgccaggcttGccaacaacctttatggagat	10	9	12	10	0	0	1	0	0	0	1	0	3	0	2	4	4	4	1	4	4	3	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:179443831G>T	ENST00000589042.1	-	320	68150	c.67926C>A	c.(67924-67926)ggC>ggA	p.G22642G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G20074G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Silent_p.G21001G|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.G13577G|TTN_ENST00000342175.6_Silent_p.G13769G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.G13702G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21001	Fibronectin type-III 64.						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)			TGCCAGGCTTGCCAACAACCT	0.443													35	57					7.11191e-15	8.7553e-15	1	0	T	179443831	G	T	179443831	2	4	124	1	0	0	0	0	0	0	0	1	16831	1306	46	4		4	TTN	2	179443831	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	14994	179443831	63755542	46	23859											
DNAH7	56171	broad.mit.edu	37	chr2	196659120	196659120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggtccatgaggtatgatCgaatgatattagcccgtaaa	12	11	11	7	3	0	3	0	3	0	0	3	4	1	3	2	2	1	2	2	2	6	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:196659120C>A	ENST00000312428.6	-	57	10758	c.10658G>T	c.(10657-10659)cGa>cTa	p.R3553L	DNAH7_ENST00000409063.1_Missense_Mutation_p.R36L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3553	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAGGTATGATCGAATGATATT	0.448													36	93					6.05902e-23	8.14016e-23	1	0	A	196659120	C	A	196659120	3	1	124	1	0	0	0	0	1	0	0	0	4642	884	31	3	1452	3	DNAH7	2	196659120	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	17215289	196659120	46540253	47	23860											
DNAH7	56171	broad.mit.edu	37	chr2	196825389	196825389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttgaaatcttccacctttGatcttactttttttgtcatt	7	21	4	9	0	3	2	1	2	2	0	4	2	4	2	2	0	1	1	2	0	2	8			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:196825389G>A	ENST00000312428.6	-	18	2586	c.2486C>T	c.(2485-2487)tCa>tTa	p.S829L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	829	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCCACCTTTGATCTTACTTT	0.418													48	129					0	0	0	0	A	196825389	G	A	196825389	3	1	124	1	0	0	0	0	1	0	0	0	4642	1294	45	2	9780	2	DNAH7	2	196825389	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	166269	196825389	46373984	48	23861											
MAP2	4133	broad.mit.edu	37	chr2	210543348	210543348	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actgctgaggctgtagcagtCctgaaaggtgaacaagagaa	14	7	13	7	0	0	4	0	3	0	1	1	5	1	4	1	2	3	4	1	2	5	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:210543348C>T	ENST00000360351.4	+	5	821	c.315C>T	c.(313-315)gtC>gtT	p.V105V	MAP2_ENST00000392194.1_Silent_p.V105V|MAP2_ENST00000361559.4_Silent_p.V105V|MAP2_ENST00000199940.6_Silent_p.V105V|MAP2_ENST00000447185.1_Silent_p.V105V	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	105					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGTAGCAGTCCTGAAAGGTG	0.413													27	45					0	0	0	0	T	210543348	C	T	210543348	2	4	124	1	0	0	0	0	0	0	0	1	9304	842	30	2		2	MAP2	2	210543348	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	13717959	210543348	32656025	49	23862											
SP140	11262	broad.mit.edu	37	chr2	231101947	231101947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttatgggcctccgagaccGctccttcatctccgagcaga	7	9	9	16	3	2	2	1	0	1	2	5	4	4	2	6	1	1	2	6	1	1	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:231101947G>A	ENST00000392045.3	+	2	323	c.209G>A	c.(208-210)cGc>cAc	p.R70H	SP140_ENST00000350136.5_Missense_Mutation_p.R50H|SP140_ENST00000373645.3_Missense_Mutation_p.R70H|SP140_ENST00000486687.2_Missense_Mutation_p.R70H|SP140_ENST00000417495.3_Missense_Mutation_p.R70H|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000420434.3_Missense_Mutation_p.R70H|SP140_ENST00000343805.6_Missense_Mutation_p.R70H	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	70	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTCCGAGACCGCTCCTTCATC	0.433													26	56					0	0	0	0	A	231101947	G	A	231101947	3	1	124	1	0	0	0	0	1	0	0	0	15050	1087	38	1	215	1	SP140	2	231101947	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	20558599	231101947	12097426	50	23863											
UGT1A5	54579	broad.mit.edu	37	chr2	234622486	234622486	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggcatcaactgtgccaaCgggaagccactatctcaggt	10	7	13	11	1	2	0	2	0	1	0	3	1	2	1	2	4	4	1	2	4	4	1	rs149208140	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:234622486C>T	ENST00000373414.3	+	1	849	c.849C>T	c.(847-849)aaC>aaT	p.N283N	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		ACTGTGCCAACGGGAAGCCAC	0.463													4	190					0	0	0	0	T	234622486	C	T	234622486	2	4	124	1	0	0	0	0	0	0	0	1	17044	535	19	1		1	UGT1A5	2	234622486	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	3520539	234622486	8576887	51	23864											
OR6B2	389090	broad.mit.edu	37	chr2	240969740	240969740	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctccaccaggacaaagAggtaggtgagcaggaagagg	13	5	16	7	0	1	3	0	1	1	2	2	5	1	5	2	6	1	3	2	6	3	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:240969740A>T	ENST00000402971.2	-	1	166	c.107T>A	c.(106-108)cTc>cAc	p.L36H		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CAGGACAAAGAGGTAGGTGAG	0.587													35	112					0	0	0	0	T	240969740	A	T	240969740	3	4	124	1	0	0	0	0	1	0	0	0	11259	304	11	5	833	5	OR6B2	2	240969740	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	6347254	240969740	2229633	52	23865											
IL5RA	3568	broad.mit.edu	37	chr3	3144489	3144489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttaatggtgaaattgacaGgtgggagaagtgaaactgtt	13	12	13	3	0	0	4	0	3	0	1	0	5	0	4	0	3	1	1	0	3	4	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:3144489G>T	ENST00000446632.2	-	4	672	c.98C>A	c.(97-99)cCt>cAt	p.P33H	IL5RA_ENST00000445864.2_Missense_Mutation_p.P33H|IL5RA_ENST00000418488.2_Missense_Mutation_p.P33H|IL5RA_ENST00000383846.1_Missense_Mutation_p.P33H|IL5RA_ENST00000438560.1_Missense_Mutation_p.P33H|IL5RA_ENST00000456302.1_Missense_Mutation_p.P33H|IL5RA_ENST00000311981.8_Missense_Mutation_p.P33H|IL5RA_ENST00000430514.2_Missense_Mutation_p.P33H|IL5RA_ENST00000256452.3_Missense_Mutation_p.P33H	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	33					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GAAATTGACAGGTGGGAGAAG	0.343													14	20					6.31663e-08	7.17587e-08	1	0	T	3144489	G	T	3144489	3	4	124	1	0	0	0	0	1	0	0	0	7753	1000	35	4	1226	4	IL5RA	3	3144489	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08		3144489	194877941	53	23866											
SLC6A1	6529	broad.mit.edu	37	chr3	11064040	11064040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcgcaacatgcatcagatGacggacgggctggataagcc	12	5	14	10	3	1	2	1	1	0	1	1	4	1	4	1	4	3	3	1	4	2	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:11064040G>A	ENST00000287766.4	+	7	1021	c.600G>A	c.(598-600)atG>atA	p.M200I	SLC6A1_ENST00000536032.1_Missense_Mutation_p.M22I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	200					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TGCATCAGATGACGGACGGGC	0.592													9	14					0	0	0	0	A	11064040	G	A	11064040	3	1	124	1	0	0	0	0	1	0	0	0	14761	1290	45	2	618	2	SLC6A1	3	11064040	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	7919551	11064040	186958390	54	23867											
MKRN2	23609	broad.mit.edu	37	chr3	12616417	12616417	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttctgagaggagatttGggattctctccaattgcaat	9	14	10	8	0	2	2	0	1	2	2	4	5	3	3	1	2	2	2	1	2	2	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:12616417G>C	ENST00000170447.7	+	5	906	c.769G>C	c.(769-771)Ggg>Cgg	p.G257R	MKRN2_ENST00000448482.1_Missense_Mutation_p.G255R|MKRN2_ENST00000411987.1_Missense_Mutation_p.G214R	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	257						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						GAGGAGATTTGGGATTCTCTC	0.493													19	24					0	0	0	0	C	12616417	G	C	12616417	3	2	124	1	0	0	0	0	1	0	0	0	9676	1348	47	4	787	4	MKRN2	3	12616417	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	1552377	12616417	185406013	55	23868											
CLASP2	23122	broad.mit.edu	37	chr3	33645691	33645691	+	Frame_Shift_Del	DEL	A	A	-																															tgctgtagaccatttggaagAaaaagggcgactgcaaagta																										TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:33645691delA	ENST00000399362.4	-	17	2058	c.1705delT	c.(1705-1707)ctfs	p.S570fs	CLASP2_ENST00000487200.1_Frame_Shift_Del_p.S343fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.S59fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.S322fs|CLASP2_ENST00000313350.6_Frame_Shift_Del_p.S343fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.S337fs|CLASP2_ENST00000333778.6_Frame_Shift_Del_p.S347fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.S570fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.S571fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.S337fs	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	571										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CATTTGGAAGAAAAAGGGCGA	0.323													2	4	---	---	---	---					-	33645691	A	-	33645691	7	5	124	1	0	1	0	1	0	0	0	0	3485	246	9	0	2903	0	CLASP2	3	33645691	Frame_Shift_Del	DEL	A	TCGA-CN-A641-01A-11D-A30E-08	21029274	33645691	164376739	56	23869											
SLC26A6	65010	broad.mit.edu	37	chr3	48670725	48670725	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacactcaggccggataacAggtcacccaggagccagtca	12	4	10	15	1	3	0	3	0	0	0	3	2	3	2	4	4	2	0	4	4	1	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:48670725A>T	ENST00000358747.6	-	2	468	c.218T>A	c.(217-219)cTg>cAg	p.L73Q	SLC26A6_ENST00000420764.2_Missense_Mutation_p.L94Q|SLC26A6_ENST00000337000.8_Missense_Mutation_p.L94Q|SLC26A6_ENST00000395550.2_Missense_Mutation_p.L94Q|SLC26A6_ENST00000383733.3_Missense_Mutation_p.L94Q|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000455886.2_Missense_Mutation_p.L94Q	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCCGGATAACAGGTCACCCAG	0.612													17	16					0	0	0	0	T	48670725	A	T	48670725	3	4	124	1	0	0	0	0	1	0	0	0	14609	188	7	5	2110	5	SLC26A6	3	48670725	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	15025034	48670725	149351705	57	23870											
FAM3D	131177	broad.mit.edu	37	chr3	58639476	58639476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatccatgtcgtgactaTggcaaagatgagggccagga	14	7	12	8	1	0	3	0	2	0	1	2	4	1	4	2	3	1	1	2	3	3	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:58639476T>C	ENST00000358781.2	-	3	356	c.46A>G	c.(46-48)Ata>Gta	p.I16V		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	16					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GTCGTGACTATGGCAAAGATG	0.567													36	38					0	0	0	0	C	58639476	T	C	58639476	3	2	124	1	0	0	0	0	1	0	0	0	5606	1464	51	5	660	5	FAM3D	3	58639476	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	9968751	58639476	139382954	58	23871											
EPHA6	285220	broad.mit.edu	37	chr3	97251285	97251285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattaaaactttgaaaggtGgccacatggatcggcaaaga	15	8	10	8	1	0	2	0	1	0	1	1	3	0	3	2	4	1	1	2	4	4	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:97251285G>T	ENST00000389672.5	+	11	2322	c.2284G>T	c.(2284-2286)Ggc>Tgc	p.G762C	EPHA6_ENST00000502694.1_Missense_Mutation_p.G154C|EPHA6_ENST00000514100.1_Missense_Mutation_p.G154C|EPHA6_ENST00000442602.2_Missense_Mutation_p.G128C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	667	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTTGAAAGGTGGCCACATGGA	0.428													29	83					1.68575e-08	1.92925e-08	1	0	T	97251285	G	T	97251285	3	4	124	1	0	0	0	0	1	0	0	0	5209	1348	47	4	2394	4	EPHA6	3	97251285	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	38611809	97251285	100771145	59	23872											
OR5H15	403274	broad.mit.edu	37	chr3	97887871	97887871	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgcaattggcgtaaccAcagaatgttttctcttggca	10	13	8	10	1	1	1	0	0	1	1	2	1	1	1	2	2	2	4	2	2	3	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:97887871A>T	ENST00000356526.2	+	1	328	c.328A>T	c.(328-330)Aca>Tca	p.T110S		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGGCGTAACCACAGAATGTTT	0.393													52	116					0	0	0	0	T	97887871	A	T	97887871	3	4	124	1	0	0	0	0	1	0	0	0	11232	159	6	5	330	5	OR5H15	3	97887871	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	636586	97887871	100134559	60	23873											
GAP43	2596	broad.mit.edu	37	chr3	115395168	115395168	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actccttccgaggagaagaaGggggagggtgatgctgccac	10	6	16	9	1	0	3	0	1	0	2	2	6	2	4	3	4	2	1	3	4	2	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:115395168G>A	ENST00000393780.3	+	3	915	c.447G>A	c.(445-447)aaG>aaA	p.K149K	GAP43_ENST00000305124.6_Silent_p.K113K	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	113					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGGAGAAGAAGGGGGAGGGTG	0.607													13	50					0	0	0	0	A	115395168	G	A	115395168	2	1	124	1	0	0	0	0	0	0	0	1	6284	991	35	4		4	GAP43	3	115395168	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	17507297	115395168	82627262	61	23874											
ARHGAP31	57514	broad.mit.edu	37	chr3	119121027	119121027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccagatggagccctcGccgcgtaaccagcgcaaggc	8	6	11	16	4	1	1	0	0	1	1	3	2	2	2	4	2	3	2	4	2	2	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:119121027G>A	ENST00000264245.4	+	10	1960	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	476					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGGAGCCCTCGCCGCGTAACC	0.592													46	119					0	0	0	0	A	119121027	G	A	119121027	2	1	124	1	0	0	0	0	0	0	0	1	882	1074	38	1		1	ARHGAP31	3	119121027	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	3725859	119121027	78901403	62	23875											
SEC61A1	29927	broad.mit.edu	37	chr3	127788488	127788488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagcgaggttggcagcatgGgggccctgctcttctgagcc	7	8	15	11	1	2	1	0	1	2	0	2	2	2	1	2	4	4	4	2	4	1	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:127788488G>A	ENST00000243253.3	+	12	1598	c.1414G>A	c.(1414-1416)Ggg>Agg	p.G472R	SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000424880.2_Missense_Mutation_p.G352R|SEC61A1_ENST00000464451.1_Missense_Mutation_p.G478R	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	472					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TGGCAGCATGGGGGCCCTGCT	0.602													42	137					0	0	0	0	A	127788488	G	A	127788488	3	1	124	1	0	0	0	0	1	0	0	0	14087	1232	43	4	1460	4	SEC61A1	3	127788488	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	8667461	127788488	70233942	63	23876											
EPHB1	2047	broad.mit.edu	37	chr3	134851755	134851755	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcagctgggcctgacGgagtgccgcgtctccatcag	6	6	14	15	3	2	1	1	1	1	0	3	2	2	2	4	3	2	2	4	3	0	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:134851755G>A	ENST00000398015.3	+	5	1531	c.1161G>A	c.(1159-1161)acG>acA	p.T387T	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	387	Fibronectin type-III 1.		T -> M (in dbSNP:rs56396912).			integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.T387T(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGGCCTGACGGAGTGCCGCG	0.612													20	42					0	0	0	0	A	134851755	G	A	134851755	2	1	124	1	0	0	0	0	0	0	0	1	5212	1103	39	1		1	EPHB1	3	134851755	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	7063267	134851755	63170675	64	23877											
CP	1356	broad.mit.edu	37	chr3	148939561	148939567	+	Frame_Shift_Del	DEL	CAAGTAT	CAAGTAT	-																															acataaaaacagaaaaatacCaagtatcaaaatcttcattt																										TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:148939561_148939567delCAAGTAT	ENST00000264613.6	-	1	275_281	c.13_19delATACTTG	c.(13-21)gtfs	p.ILG5fs		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	5					cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGAAAAATACCAAGTATCAAAATCTTC	0.357													18	68	---	---	---	---					-	148939567	CAAGTAT	-	148939561	7	5	124	1	0	1	0	1	0	0	0	0	3817	594	21	0	3254	0	CP	3	148939561	Frame_Shift_Del	DEL	CAAGTAT	TCGA-CN-A641-01A-11D-A30E-08	14087806	148939561	49082869	65	23878											
DHX36	170506	broad.mit.edu	37	chr3	154027464	154027464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatggcactaattcttcttGgctgagtacaaactattctg	12	14	7	8	0	3	1	0	1	3	0	3	1	3	1	0	2	2	3	0	2	5	7			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:154027464G>T	ENST00000496811.1	-	5	871	c.791C>A	c.(790-792)cCa>cAa	p.P264Q	DHX36_ENST00000329463.5_Missense_Mutation_p.P264Q|DHX36_ENST00000308361.6_Missense_Mutation_p.P264Q|DHX36_ENST00000544526.1_Missense_Mutation_p.P264Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	264	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AATTCTTCTTGGCTGAGTACA	0.348													21	78					1.85244e-09	2.14384e-09	1	0	T	154027464	G	T	154027464	3	4	124	1	0	0	0	0	1	0	0	0	4546	1348	47	4	2319	4	DHX36	3	154027464	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	5087903	154027464	43994966	66	23879											
OTOL1	131149	broad.mit.edu	37	chr3	161214758	161214758	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccacctccagaagaaGaagaaaccctcttcacagaa	15	5	8	13	0	2	5	1	0	1	5	3	5	3	5	4	1	1	0	4	1	5	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:161214758G>T	ENST00000327928.4	+	1	163	c.163G>T	c.(163-165)Gaa>Taa	p.E55*		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	55						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCCAGAAGAAGAAGAAACCCT	0.468													12	129					0.000978159	0.0010075	1	0	T	161214758	G	T	161214758	4	4	124	1	0	0	0	0	0	1	0	0	11375	943	33	2	165	2	OTOL1	3	161214758	Nonsense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	7187294	161214758	36807672	67	23880											
SI	6476	broad.mit.edu	37	chr3	164748525	164748525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatacacagccacgttgtGtgcacttttgttcagttgcc	7	14	8	12	1	1	0	1	0	0	0	2	0	2	0	3	0	4	4	3	0	1	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:164748525G>T	ENST00000264382.3	-	25	2929	c.2867C>A	c.(2866-2868)aCa>aAa	p.T956K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	956	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCCACGTTGTGTGCACTTTTG	0.308										HNSCC(35;0.089)			41	132					2.35958e-20	3.08946e-20	1	0	T	164748525	G	T	164748525	3	4	124	1	0	0	0	0	1	0	0	0	14385	1377	48	4	2712	4	SI	3	164748525	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	3533767	164748525	33273905	68	23881											
NAALADL2	254827	broad.mit.edu	37	chr3	175189479	175189479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttatattagcctccacaGtcccataagggggaactcta	11	10	9	11	0	1	0	0	0	1	0	3	1	3	1	3	3	2	1	3	3	6	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:175189479G>A	ENST00000454872.1	+	9	1714	c.1586G>A	c.(1585-1587)aGt>aAt	p.S529N	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	529					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGCCTCCACAGTCCCATAAGG	0.358													11	36					0	0	0	0	A	175189479	G	A	175189479	3	1	124	1	0	0	0	0	1	0	0	0	10200	1029	36	4	1620	4	NAALADL2	3	175189479	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	10440954	175189479	22832951	69	23882											
MFN1	55669	broad.mit.edu	37	chr3	179082100	179082100	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attagtccaggcacagatgtCactacagagctggatagctg	12	9	11	9	0	1	2	1	0	0	2	2	3	2	3	1	2	3	3	1	2	3	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:179082100C>T	ENST00000471841.1	+	6	678	c.552C>T	c.(550-552)gtC>gtT	p.V184V	MFN1_ENST00000280653.7_Silent_p.V184V|MFN1_ENST00000263969.5_Silent_p.V184V	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	184					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GCACAGATGTCACTACAGAGC	0.323													29	46					0	0	0	0	T	179082100	C	T	179082100	2	4	124	1	0	0	0	0	0	0	0	1	9592	813	29	2		2	MFN1	3	179082100	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	3892621	179082100	18940330	70	23883											
PEX5L	51555	broad.mit.edu	37	chr3	179576922	179576922	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtaatgcgcttccccaGcgatgttctttggtcagtcg	8	12	11	10	3	2	0	1	0	1	0	4	2	3	0	2	1	2	3	2	1	2	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:179576922G>C	ENST00000467460.1	-	8	1080	c.750C>G	c.(748-750)cgC>cgG	p.R250R	PEX5L_ENST00000263962.8_Silent_p.R248R|PEX5L_ENST00000464614.1_Silent_p.R142R|PEX5L_ENST00000465751.1_Silent_p.R226R|PEX5L_ENST00000468741.1_Silent_p.R58R|PEX5L_ENST00000472994.1_Silent_p.R191R|PEX5L_ENST00000392649.3_Silent_p.R142R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000476138.1_Silent_p.R207R|PEX5L_ENST00000485199.1_Silent_p.R215R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	250					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CGCTTCCCCAGCGATGTTCTT	0.358													55	33					0	0	0	0	C	179576922	G	C	179576922	2	2	124	1	0	0	0	0	0	0	0	1	11821	958	34	4		4	PEX5L	3	179576922	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	494822	179576922	18445508	71	23884											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984280	41984280	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgctccaagctgtgcagtGctgctcccagcgtcgcggtt	5	10	13	13	3	0	0	0	0	0	0	3	1	2	0	2	1	6	6	2	1	1	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:41984280G>A	ENST00000333141.5	+	1	568	c.471G>A	c.(469-471)gtG>gtA	p.V157V		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	157										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCTGTGCAGTGCTGCTCCCAG	0.572													60	69					0	0	0	0	A	41984280	G	A	41984280	2	1	124	1	0	0	0	0	0	0	0	1	4304	1306	46	4		4	DCAF4L1	4	41984280	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08		41984280	149169996	72	23885											
ADAMTS3	9508	broad.mit.edu	37	chr4	73205406	73205406	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaaggccttccaggtcCgactctaataagagacaaaa	15	8	7	11	1	3	1	2	0	1	1	5	3	5	1	3	2	0	0	3	2	5	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:73205406C>A	ENST00000286657.4	-	5	702	c.666G>T	c.(664-666)tcG>tcT	p.S222S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	222					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.S222S(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTCCAGGTCCGACTCTAATA	0.453													57	107					4.96213e-28	6.87578e-28	1	0	A	73205406	C	A	73205406	2	1	124	1	0	0	0	0	0	0	0	1	267	639	23	3		3	ADAMTS3	4	73205406	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	31221126	73205406	117948870	73	23886											
H2AFZ	3015	broad.mit.edu	37	chr4	100870880	100870880	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcctttccggagtccttTccagccttaccgccagcctg	4	12	9	16	2	0	0	0	0	0	0	3	1	3	1	8	2	3	0	8	2	1	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:100870880T>A	ENST00000296417.5	-	2	238	c.21A>T	c.(19-21)ggA>ggT	p.G7G	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	7	Required for interaction with INCENP (By similarity).				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CGGAGTCCTTTCCAGCCTTAC	0.622													44	97					0	0	0	0	A	100870880	T	A	100870880	2	1	124	1	0	0	0	0	0	0	0	1	6981	1770	62	5		5	H2AFZ	4	100870880	Silent	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	27665474	100870880	90283396	74	23887											
IL2	3558	broad.mit.edu	37	chr4	123373006	123373006	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatattcacacatgaatgtTgtttcagatccctataaaag	14	13	6	8	0	2	2	2	1	0	1	3	2	3	2	1	0	0	3	1	0	5	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:123373006T>G	ENST00000226730.4	-	4	647	c.363A>C	c.(361-363)acA>acC	p.T121T		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	121					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		ACATGAATGTTGTTTCAGATC	0.333			T	TNFRSF17	intestinal T-cell lymphoma								9	24					0	0	0	0	G	123373006	T	G	123373006	2	3	124	1	0	0	0	0	0	0	0	1	7719	1799	63	5		5	IL2	4	123373006	Silent	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	22502126	123373006	67781270	75	23888											
PCDH10	57575	broad.mit.edu	37	chr4	134073368	134073368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccagggcgggggcgggagCggaggcggagggtcaggaga	7	1	24	9	4	1	1	1	0	0	1	1	5	1	4	2	9	1	0	2	9	0	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:134073368C>A	ENST00000264360.4	+	1	2899	c.2073C>A	c.(2071-2073)agC>agA	p.S691R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	691					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ggggcgggagcggaggcggag	0.711													13	22					1.3612e-06	1.47583e-06	1	0	A	134073368	C	A	134073368	3	1	124	1	0	0	0	0	1	0	0	0	11578	767	27	3	2075	3	PCDH10	4	134073368	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	10700362	134073368	57080908	76	23889											
CTNND2	1501	broad.mit.edu	37	chr5	11022898	11022898	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttatctcctttgcttttGgagatgccgaccaacttctc	7	16	6	12	1	2	1	0	0	2	1	4	3	2	1	3	1	4	1	3	1	3	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:11022898G>T	ENST00000304623.8	-	17	3171	c.2982C>A	c.(2980-2982)tcC>tcA	p.S994S	CTNND2_ENST00000511377.1_Silent_p.S903S|CTNND2_ENST00000458100.2_Silent_p.S561S|CTNND2_ENST00000503622.1_Silent_p.S657S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.S936S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	994					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTTTGCTTTTGGAGATGCCGA	0.498													18	56					9.16793e-09	1.05312e-08	1	0	T	11022898	G	T	11022898	2	4	124	1	0	0	0	0	0	0	0	1	4052	1335	47	4		4	CTNND2	5	11022898	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08		11022898	169892362	77	23890											
PRDM9	56979	broad.mit.edu	37	chr5	23522455	23522455	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aagaaagatgtatagcctgcGagaaagaaagggtcatgcat	17	7	12	5	1	1	4	1	0	0	4	1	5	1	4	1	1	3	2	1	1	6	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:23522455G>C	ENST00000296682.3	+	7	733	c.551G>C	c.(550-552)cGa>cCa	p.R184P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TATAGCCTGCGAGAAAGAAAG	0.458										HNSCC(3;0.000094)			55	148					0	0	0	0	C	23522455	G	C	23522455	3	2	124	1	0	0	0	0	1	0	0	0	12543	1058	37	3	573	3	PRDM9	5	23522455	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	12499557	23522455	157392805	78	23891											
CDH10	1008	broad.mit.edu	37	chr5	24488133	24488133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagggtgccgatatcaaagGcctgggtgtcctcctctcca	7	10	11	13	1	3	0	2	0	1	0	6	1	5	0	5	3	1	0	5	3	2	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:24488133G>A	ENST00000264463.4	-	12	2513	c.2006C>T	c.(2005-2007)gCc>gTc	p.A669V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	669					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATATCAAAGGCCTGGGTGTC	0.463										HNSCC(23;0.051)			35	81					0	0	0	0	A	24488133	G	A	24488133	3	1	124	1	0	0	0	0	1	0	0	0	3125	1203	42	4	364	4	CDH10	5	24488133	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	965678	24488133	156427127	79	23892											
EGFLAM	133584	broad.mit.edu	37	chr5	38338867	38338867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcgtgcctctcagccGggacatcccgaccacggtga	8	5	12	16	4	1	1	1	1	1	0	3	3	2	2	4	2	3	1	4	2	0	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:38338867G>T	ENST00000322350.5	+	3	621	c.275G>T	c.(274-276)cGg>cTg	p.R92L	EGFLAM_ENST00000354891.3_Missense_Mutation_p.R92L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	92	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCTCTCAGCCGGGACATCCCG	0.547													14	27					0.0202918	0.0205579	1	0	T	38338867	G	T	38338867	3	4	124	1	0	0	0	0	1	0	0	0	5002	1116	39	3	285	3	EGFLAM	5	38338867	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	13850734	38338867	142576393	80	23893											
AFF4	27125	broad.mit.edu	37	chr5	132228812	132228812	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcggttatcatcttcattcTagatgaaaaatagaaaccgt	14	13	6	8	2	4	3	2	1	2	2	5	3	4	3	1	1	1	1	1	1	6	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:132228812T>C	ENST00000265343.5	-	12	2687		c.e12-2		AFF4_ENST00000378595.3_Splice_Site	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4						transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTTCATTCTAGATGAAAAA	0.428													99	175					0	0	0	0	C	132228812	T	C	132228812	5	2	124	1	0	0	0	0	0	0	1	0	359	1536	53	5	1225	5	AFF4	5	132228812	Splice_Site	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	93889945	132228812	48686448	81	23894											
ANKHD1	54882	broad.mit.edu	37	chr5	139876563	139876563	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttacctcaggttgacacaAtcttatttaaagataatgat	15	14	6	6	0	2	3	1	2	1	1	2	3	2	3	1	1	1	2	1	1	6	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:139876563A>T	ENST00000297183.6	+	15	2828	c.2704A>T	c.(2704-2706)Atc>Ttc	p.I902F	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.I902F|ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000360839.2_Missense_Mutation_p.I902F	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTGACACAATCTTATTTAA	0.448													38	93					0	0	0	0	T	139876563	A	T	139876563	3	4	124	1	0	0	0	0	1	0	0	0	628	101	4	5	2868	5	ANKHD1	5	139876563	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	7647751	139876563	41038697	82	23895											
PCDHA11	56138	broad.mit.edu	37	chr5	140249505	140249505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagaccgagacgaaggaGtcaatggagaggtaacatac	16	4	12	9	2	1	3	1	0	0	3	1	7	1	4	2	3	2	1	2	3	4	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:140249505G>A	ENST00000398640.2	+	1	817	c.817G>A	c.(817-819)Gtc>Atc	p.V273I	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACGAAGGAGTCAATGGAGA	0.393													8	18					0	0	0	0	A	140249505	G	A	140249505	3	1	124	1	0	0	0	0	1	0	0	0	11592	1029	36	4	819	4	PCDHA11	5	140249505	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	372942	140249505	40665755	83	23896											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712459	140712459	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcttagcgagcatgccCggttcgcactttgtgggcgt	4	10	16	11	5	0	0	0	0	0	0	1	1	0	0	1	4	3	4	1	4	1	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:140712459C>T	ENST00000517417.1	+	1	2208	c.2208C>T	c.(2206-2208)ccC>ccT	p.P736P	PCDHGA1_ENST00000378105.3_Silent_p.P736P	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCATGCCCGGTTCGCACT	0.632													4	138					0	0	0	0	T	140712459	C	T	140712459	2	4	124	1	0	0	0	0	0	0	0	1	11621	639	23	1		1	PCDHGA1	5	140712459	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	462954	140712459	40202801	84	23897											
SH3TC2	79628	broad.mit.edu	37	chr5	148407034	148407034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacacagggccctctgggtgCtccggtctgctagttcctca	5	10	12	14	1	3	0	1	0	2	0	5	1	5	0	3	3	2	3	3	3	1	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:148407034C>A	ENST00000538184.1	-	7	1790	c.902G>T	c.(901-903)aGc>aTc	p.S301I	SH3TC2_ENST00000515425.1_Missense_Mutation_p.S754I|SH3TC2_ENST00000512049.1_Missense_Mutation_p.S747I|SH3TC2_ENST00000394358.2_Missense_Mutation_p.S639I			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	754	SH3.						binding			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)			CCTCTGGGTGCTCCGGTCTGC	0.607													19	47					5.35267e-07	5.92822e-07	1	0	A	148407034	C	A	148407034	3	1	124	1	0	0	0	0	1	0	0	0	14350	797	28	4	1633	4	SH3TC2	5	148407034	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	7694575	148407034	32508226	85	23898											
FAM114A2	10827	broad.mit.edu	37	chr5	153377430	153377430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctttacacaacacaattGtcatcctaggaaagaaagga	17	9	6	9	0	2	1	1	0	1	1	3	3	3	3	1	2	2	0	1	2	6	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:153377430G>A	ENST00000351797.4	-	12	1338	c.1262C>T	c.(1261-1263)aCa>aTa	p.T421I	FAM114A2_ENST00000522858.1_Missense_Mutation_p.T421I|FAM114A2_ENST00000520667.1_Missense_Mutation_p.T421I|FAM114A2_ENST00000520313.1_Missense_Mutation_p.T351I	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	421							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CAACACAATTGTCATCCTAGG	0.343													82	220					0	0	0	0	A	153377430	G	A	153377430	3	1	124	1	0	0	0	0	1	0	0	0	5445	1377	48	4	267	4	FAM114A2	5	153377430	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	4970396	153377430	27537830	86	23899											
HAVCR1	26762	broad.mit.edu	37	chr5	156482413	156482413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattggtccagacaatgcCattttggcatgtgaatagag	11	12	10	8	0	0	3	0	1	0	2	2	3	2	3	3	2	1	1	3	2	3	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:156482413C>T	ENST00000339252.3	-	2	710	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	HAVCR1_ENST00000522693.1_Missense_Mutation_p.G60S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.G60S|HAVCR1_ENST00000544197.1_Missense_Mutation_p.G60S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.G60S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	60	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGACAATGCCATTTTGGCAT	0.493													14	47					0	0	0	0	T	156482413	C	T	156482413	3	4	124	1	0	0	0	0	1	0	0	0	7023	594	21	4	944	4	HAVCR1	5	156482413	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	3104983	156482413	24432847	87	23900											
GABRB2	2561	broad.mit.edu	37	chr5	160757944	160757944	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactggcagccttctcagcTgctttcttttggcgttgggg	3	14	13	11	1	2	0	1	0	2	0	3	0	2	0	1	4	3	5	1	4	0	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:160757944T>A	ENST00000274547.2	-	9	1240	c.1023A>T	c.(1021-1023)gcA>gcT	p.A341A	GABRB2_ENST00000520240.1_Silent_p.A341A|GABRB2_ENST00000517547.1_Silent_p.A181A|GABRB2_ENST00000353437.6_Silent_p.A341A|GABRB2_ENST00000393959.1_Silent_p.A341A|GABRB2_ENST00000517901.1_Silent_p.A278A	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	341					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTTCTCAGCTGCTTTCTTTT	0.502													32	137					0	0	0	0	A	160757944	T	A	160757944	2	1	124	1	0	0	0	0	0	0	0	1	6215	1567	55	5		5	GABRB2	5	160757944	Silent	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	4275531	160757944	20157316	88	23901											
GABRA1	2554	broad.mit.edu	37	chr5	161281186	161281186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacagccgtcattacaaGatgaacttaaagacaatacc	17	8	7	9	1	1	3	1	1	0	2	1	4	1	4	2	1	4	0	2	1	7	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:161281186G>T	ENST00000428797.2	+	4	452	c.97G>T	c.(97-99)Gat>Tat	p.D33Y	GABRA1_ENST00000444819.1_Missense_Mutation_p.D33Y|GABRA1_ENST00000393943.4_Missense_Mutation_p.D33Y|GABRA1_ENST00000420560.1_Missense_Mutation_p.D33Y|GABRA1_ENST00000437025.2_Missense_Mutation_p.D33Y|GABRA1_ENST00000023897.6_Missense_Mutation_p.D33Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	33					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GTCATTACAAGATGAACTTAA	0.383													9	58					0.000442599	0.000457402	1	0	T	161281186	G	T	161281186	3	4	124	1	0	0	0	0	1	0	0	0	6208	942	33	2	103	2	GABRA1	5	161281186	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	523242	161281186	19634074	89	23902											
GABRA1	2554	broad.mit.edu	37	chr5	161300189	161300189	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttaaaatttaaaggacctAtgacagtcctccggttaaat	14	12	8	7	1	0	1	0	1	0	0	2	2	2	2	3	3	0	2	3	3	7	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:161300189A>C	ENST00000428797.2	+	6	677	c.322A>C	c.(322-324)Atg>Ctg	p.M108L	GABRA1_ENST00000444819.1_Missense_Mutation_p.M108L|GABRA1_ENST00000393943.4_Missense_Mutation_p.M108L|GABRA1_ENST00000420560.1_Missense_Mutation_p.M108L|GABRA1_ENST00000437025.2_Missense_Mutation_p.M108L|GABRA1_ENST00000023897.6_Missense_Mutation_p.M108L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	108					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TAAAGGACCTATGACAGTCCT	0.383													58	77					0	0	0	0	C	161300189	A	C	161300189	3	2	124	1	0	0	0	0	1	0	0	0	6208	449	16	5	336	5	GABRA1	5	161300189	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	19003	161300189	19615071	90	23903											
NSD1	64324	broad.mit.edu	37	chr5	176707633	176707633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaataccccgttgcaactGtaaagctactgatgagaacc	14	9	8	10	1	0	3	0	3	0	1	0	4	0	3	3	0	6	4	3	0	7	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:176707633G>T	ENST00000439151.2	+	18	5735	c.5690G>T	c.(5689-5691)tGt>tTt	p.C1897F	NSD1_ENST00000361032.4_Missense_Mutation_p.C1794F|NSD1_ENST00000354179.4_Missense_Mutation_p.C1628F|NSD1_ENST00000347982.4_Missense_Mutation_p.C1628F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1897	AWS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CGTTGCAACTGTAAAGCTACT	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			40	75					1.49673e-21	1.98494e-21	1	0	T	176707633	G	T	176707633	3	4	124	1	0	0	0	0	1	0	0	0	10740	1377	48	4	5756	4	NSD1	5	176707633	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	15407444	176707633	4207627	91	23904											
NSD1	64324	broad.mit.edu	37	chr5	176707779	176707780	+	Frame_Shift_Ins	INS	-	-	T																															ccaatatccagaggttgaaaINSttttccgcacattacagcgg																										TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:176707779_176707780insT	ENST00000439151.2	+	18	5881_5882	c.5836_5837insT	c.(5836-5838)tttfs	p.F1946fs	NSD1_ENST00000361032.4_Frame_Shift_Ins_p.F1843fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.F1677fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.F1677fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1946	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAGGTTGAAATTTTCCGCACA	0.465			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			12	68	---	---	---	---					T	176707780	-	T	176707779	7	5	124	1	0	1	1	0	0	0	0	0	10740	101	4	0	5902	0	NSD1	5	176707779	Frame_Shift_Ins	INS	-	TCGA-CN-A641-01A-11D-A30E-08	146	176707779	4207481	92	23905	197	3									
NSD1	64324	broad.mit.edu	37	chr5	176707785	176707785	+	Missense_Mutation	SNP	C	C	A																															atccagaggttgaaattttcCgcacattacagcggggttgg																										TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:176707785C>A	ENST00000439151.2	+	18	5887	c.5842C>A	c.(5842-5844)Cgc>Agc	p.R1948S	NSD1_ENST00000361032.4_Missense_Mutation_p.R1845S|NSD1_ENST00000354179.4_Missense_Mutation_p.R1679S|NSD1_ENST00000347982.4_Missense_Mutation_p.R1679S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1948	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGAAATTTTCCGCACATTACA	0.463			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			12	61					6.40141e-05	6.79737e-05	1	0	A	176707785	C	A	176707785	3	1	124	1	0	0	0	0	1	0	0	0	10740	652	23	3	5908	3	NSD1	5	176707785	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	6	176707785	4207475	93	23906	197	3									
NSD1	64324	broad.mit.edu	37	chr5	176707786	176707786	+	Missense_Mutation	SNP	G	G	T																															tccagaggttgaaattttccGcacattacagcggggttggg																										TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:176707786G>T	ENST00000439151.2	+	18	5888	c.5843G>T	c.(5842-5844)cGc>cTc	p.R1948L	NSD1_ENST00000361032.4_Missense_Mutation_p.R1845L|NSD1_ENST00000354179.4_Missense_Mutation_p.R1679L|NSD1_ENST00000347982.4_Missense_Mutation_p.R1679L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1948	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAAATTTTCCGCACATTACAG	0.458			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	60					7.03913e-09	8.11601e-09	1	0	T	176707786	G	T	176707786	3	4	124	1	0	0	0	0	1	0	0	0	10740	1087	38	3	5909	3	NSD1	5	176707786	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	1	176707786	4207474	94	23907	197	3									
NHLRC1	378884	broad.mit.edu	37	chr6	18122404	18122404	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacgcctcctgccgtcgTgcaccaccacgacacgcccc	7	5	8	21	5	0	1	0	1	0	0	2	2	1	1	7	0	2	1	7	0	0	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:18122404T>C	ENST00000340650.3	-	1	447	c.434A>G	c.(433-435)cAc>cGc	p.H145R		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	145					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CCTGCCGTCGTGCACCACCAC	0.637													15	87					0	0	0	0	C	18122404	T	C	18122404	3	2	124	1	0	0	0	0	1	0	0	0	10475	1696	59	5	757	5	NHLRC1	6	18122404	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08		18122404	152992663	95	23908											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158404	26158404	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctattaacgctacgatgcctGaacctaccaagtctgctcct	10	11	6	14	2	1	1	0	1	1	0	2	2	2	1	4	0	6	2	4	0	6	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:26158404G>C	ENST00000289316.2	+	1	31	c.7G>C	c.(7-9)Gaa>Caa	p.E3Q	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.E3Q	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	3					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TACGATGCCTGAACCTACCAA	0.507													7	111					0	0	0	0	C	26158404	G	C	26158404	3	2	124	1	0	0	0	0	1	0	0	0	7193	1291	45	2	9	2	HIST1H2BD	6	26158404	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	8036000	26158404	144956663	96	23909											
SCAND3	114821	broad.mit.edu	37	chr6	28554374	28554374	+	Missense_Mutation	SNP	G	G	T																															ggtataagacaaattcctacGtagggctgattcctgatccc																										TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:28554374G>T	ENST00000452236.2	-	1	738	c.121C>A	c.(121-123)Cgt>Agt	p.R41S	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	41					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AAATTCCTACGTAGGGCTGAT	0.522													14	93					0.000308642	0.000320035	1	0	T	28554374	G	T	28554374	3	4	124	1	0	0	0	0	1	0	0	0	13962	1145	40	3	3872	3	SCAND3	6	28554374	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	2395970	28554374	142560693	97	23910	198	2									
SCAND3	114821	broad.mit.edu	37	chr6	28554376	28554376	+	Missense_Mutation	SNP	A	A	T																															tataagacaaattcctacgtAgggctgattcctgatcccaa																										TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:28554376A>T	ENST00000452236.2	-	1	736	c.119T>A	c.(118-120)cTa>cAa	p.L40Q	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	40					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATTCCTACGTAGGGCTGATTC	0.517													14	95					0	0	0	0	T	28554376	A	T	28554376	3	4	124	1	0	0	0	0	1	0	0	0	13962	420	15	5	3874	5	SCAND3	6	28554376	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	2	28554376	142560691	98	23911	198	2									
C6orf10	10665	broad.mit.edu	37	chr6	32337688	32337688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaccactttgcttacatCgtgcccatcttgttaacaaa	11	13	4	13	1	2	0	1	0	1	0	3	0	2	0	2	0	4	2	2	0	3	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:32337688C>A	ENST00000375015.4	-	2	286	c.86G>T	c.(85-87)cGa>cTa	p.R29L	C6orf10_ENST00000375007.4_Missense_Mutation_p.R29L|C6orf10_ENST00000447241.2_Missense_Mutation_p.R29L|C6orf10_ENST00000533191.1_Missense_Mutation_p.R29L|C6orf10_ENST00000442822.2_Missense_Mutation_p.R29L|C6orf10_ENST00000527965.1_Missense_Mutation_p.R29L			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	29						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTGCTTACATCGTGCCCATCT	0.418													114	102					5.45782e-69	8.06922e-69	1	0	A	32337688	C	A	32337688	3	1	124	1	0	0	0	0	1	0	0	0	2338	884	31	3	1397	3	C6orf10	6	32337688	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	3783312	32337688	138777379	99	23912											
COL19A1	1310	broad.mit.edu	37	chr6	70886424	70886424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaacagggagatcgaggcCcagcaggtcccccaggaata	12	3	12	14	1	0	1	0	0	0	1	2	4	1	2	4	4	2	1	4	4	3	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:70886424C>A	ENST00000322773.4	+	42	2737	c.2635C>A	c.(2635-2637)Cca>Aca	p.P879T	COL19A1_ENST00000393344.1_Missense_Mutation_p.P501T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	879	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGATCGAGGCCCAGCAGGTCC	0.398													21	22					1.64293e-13	1.97536e-13	1	0	A	70886424	C	A	70886424	3	1	124	1	0	0	0	0	1	0	0	0	3706	623	22	4	2797	4	COL19A1	6	70886424	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	38548736	70886424	100228643	100	23913											
MAP3K7	6885	broad.mit.edu	37	chr6	91260237	91260237	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctgaatactgacaaggaTactgtaatggctcatctgct	12	12	8	9	0	3	2	1	2	2	0	3	3	3	3	0	2	3	3	0	2	5	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:91260237T>C	ENST00000369329.3	-	9	1060	c.899A>G	c.(898-900)tAt>tGt	p.Y300C	MAP3K7_ENST00000369327.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369325.3_Missense_Mutation_p.Y300C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	300					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGACAAGGATACTGTAATGG	0.333													14	19					0	0	0	0	C	91260237	T	C	91260237	3	2	124	1	0	0	0	0	1	0	0	0	9324	1406	49	5	957	5	MAP3K7	6	91260237	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	20373813	91260237	79854830	101	23914											
TCTE3	6991	broad.mit.edu	37	chr6	170140341	170140341	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggattctgcttcgtgtttAgctgcgacccagctgtccca	6	13	10	12	2	1	0	0	0	1	0	3	2	2	1	2	1	4	4	2	1	2	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:170140341A>G	ENST00000366774.3	-	4	637	c.537T>C	c.(535-537)gcT>gcC	p.A179A		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	179					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		CTTCGTGTTTAGCTGCGACCC	0.413													29	56					0	0	0	0	G	170140341	A	G	170140341	2	3	124	1	0	0	0	0	0	0	0	1	15812	407	15	5		5	TCTE3	6	170140341	Silent	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	78880104	170140341	974726	102	23915											
ABCB5	340273	broad.mit.edu	37	chr7	20766712	20766712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactatagtgtcattaacaaGggaaaaagccttcgagcaaa	17	9	8	7	1	1	0	1	0	0	0	2	2	1	1	1	1	4	1	1	1	8	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:20766712G>T	ENST00000404938.2	+	22	3327	c.2675G>T	c.(2674-2676)aGg>aTg	p.R892M	ABCB5_ENST00000258738.6_Missense_Mutation_p.R447M	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	447					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCATTAACAAGGGAAAAAGCC	0.308													15	71					7.93312e-07	8.72361e-07	1	0	T	20766712	G	T	20766712	3	4	124	1	0	0	0	0	1	0	0	0	44	1000	35	4	2798	4	ABCB5	7	20766712	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08		20766712	138371951	103	23916											
WIPF3	644150	broad.mit.edu	37	chr7	29915483	29915483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgcgaagggcagatcCgaaaggccggagtgcgctgt	9	6	16	10	4	0	1	0	0	0	1	1	4	1	2	2	3	3	3	2	3	2	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:29915483C>A	ENST00000409290.1	+	2	128	c.128C>A	c.(127-129)cCg>cAg	p.P43Q	WIPF3_ENST00000242140.5_Missense_Mutation_p.P43Q|WIPF3_ENST00000409123.1_Missense_Mutation_p.P43Q	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	43								p.P43L(1)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						AGGGCAGATCCGAAAGGCCGG	0.517													44	43					2.43468e-25	3.29963e-25	1	0	A	29915483	C	A	29915483	3	1	124	1	0	0	0	0	1	0	0	0	17465	652	23	3	134	3	WIPF3	7	29915483	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	9148771	29915483	129223180	104	23917											
ELMO1	9844	broad.mit.edu	37	chr7	36910057	36910057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcctttcccgtcaccaCggctttgatatctgccaccg	6	11	8	16	3	2	1	1	1	1	0	4	1	4	1	5	1	1	2	5	1	1	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:36910057C>A	ENST00000310758.4	-	20	2493	c.1846G>T	c.(1846-1848)Gtg>Ttg	p.V616L	ELMO1_ENST00000396045.3_Missense_Mutation_p.V136L|ELMO1_ENST00000341056.3_Missense_Mutation_p.V318L|ELMO1_ENST00000448602.1_Missense_Mutation_p.V616L|ELMO1_ENST00000396040.2_Missense_Mutation_p.V136L|ELMO1_ENST00000442504.1_Missense_Mutation_p.V616L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	616	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCCGTCACCACGGCTTTGATA	0.398													39	56					7.63091e-17	9.78403e-17	1	0	A	36910057	C	A	36910057	3	1	124	1	0	0	0	0	1	0	0	0	5103	536	19	3	349	3	ELMO1	7	36910057	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	6994574	36910057	122228606	105	23918											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805145	44805145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccccctgcagccccccTcagtccctgcccccagcgac	4	6	7	24	1	1	0	1	0	0	0	2	1	2	0	9	0	5	1	9	0	0	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:44805145T>C	ENST00000309315.4	+	16	2332	c.2209T>C	c.(2209-2211)Tca>Cca	p.S737P	ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S679P|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S711P|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S705P|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S737P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	737	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCAGCCCCCCTCAGTCCCTGC	0.682													5	14					0	0	0	0	C	44805145	T	C	44805145	3	2	124	1	0	0	0	0	1	0	0	0	17792	1551	54	5	2267	5	ZMIZ2	7	44805145	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	7895088	44805145	114333518	106	23919											
TNS3	64759	broad.mit.edu	37	chr7	47408917	47408917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgagcatcagtcatttcCttgagggagcttccaggatc	8	12	10	11	1	2	1	2	1	0	0	6	4	4	3	2	2	2	2	2	2	0	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:47408917C>A	ENST00000398879.1	-	17	1692	c.1326G>T	c.(1324-1326)aaG>aaT	p.K442N	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.K442N			Q68CZ2	TENS3_HUMAN	tensin 3	442						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CAGTCATTTCCTTGAGGGAGC	0.602													32	92					1.74807e-11	2.05381e-11	1	0	A	47408917	C	A	47408917	3	1	124	1	0	0	0	0	1	0	0	0	16438	680	24	4	3071	4	TNS3	7	47408917	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	2603772	47408917	111729746	107	23920											
SEMA3E	9723	broad.mit.edu	37	chr7	83014746	83014746	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtcttatccaaagcaTcccctacaacaggaacatta	14	10	4	13	0	2	0	1	0	1	0	4	1	4	1	3	1	4	1	3	1	6	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:83014746T>C	ENST00000307792.3	-	16	2206	c.1739A>G	c.(1738-1740)gAt>gGt	p.D580G	SEMA3E_ENST00000427262.1_Missense_Mutation_p.D520G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	580					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATCCAAAGCATCCCCTACAAC	0.363													62	99					0	0	0	0	C	83014746	T	C	83014746	3	2	124	1	0	0	0	0	1	0	0	0	14115	1435	50	5	596	5	SEMA3E	7	83014746	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	35605829	83014746	76123917	108	23921											
AZGP1	563	broad.mit.edu	37	chr7	99564745	99564745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaggactggtaagtgcCatttccattgtgaagaacat	12	10	9	10	0	0	2	0	1	0	1	1	3	1	3	3	2	2	1	3	2	3	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:99564745C>A	ENST00000292401.4	-	4	914	c.778G>T	c.(778-780)Ggc>Tgc	p.G260C	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	260	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGGTAAGTGCCATTTCCATTG	0.622													34	80					2.08457e-15	2.62911e-15	1	0	A	99564745	C	A	99564745	3	1	124	1	0	0	0	0	1	0	0	0	1243	594	21	4	122	4	AZGP1	7	99564745	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	16549999	99564745	59573918	109	23922											
ZAN	7455	broad.mit.edu	37	chr7	100389573	100389581	+	RNA	DEL	CTGTCTCTA	CTGTCTCTA	-																															ggcctcacctgaccccgtggCtgtctctactgcagggctat																										TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:100389573_100389581delCTGTCTCTA	ENST00000542585.1	+	0	7674				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GACCCCGTGGCTGTCTCTACTGCAGGGCT	0.651													16	24	---	---	---	---					-	100389581	CTGTCTCTA	-	100389573	6	5	124	0	1	1	0	1	0	0	0	0	17609	812	28	0		0	ZAN	7	100389573	RNA	DEL	CTGTCTCTA	TCGA-CN-A641-01A-11D-A30E-08	824828	100389573	58749090	110	23923											
ASB15	142685	broad.mit.edu	37	chr7	123269039	123269039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaactgctcattgaaaatGgttttgatgtcaacactcta	13	14	7	7	0	3	3	2	2	1	1	3	3	3	3	0	1	3	2	0	1	6	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:123269039G>T	ENST00000451558.1	+	12	1512	c.991G>T	c.(991-993)Ggt>Tgt	p.G331C	ASB15_ENST00000451215.1_Missense_Mutation_p.G331C|ASB15_ENST00000275699.3_Missense_Mutation_p.G331C|ASB15_ENST00000434204.1_Missense_Mutation_p.G331C|ASB15_ENST00000540573.1_Missense_Mutation_p.G331C			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	331					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CATTGAAAATGGTTTTGATGT	0.413													68	98					3.57465e-26	4.88746e-26	1	0	T	123269039	G	T	123269039	3	4	124	1	0	0	0	0	1	0	0	0	1023	1348	47	4	1017	4	ASB15	7	123269039	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	22879466	123269039	35869624	111	23924											
SSPO	23145	broad.mit.edu	37	chr7	149503054	149503054	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggaggcatccagacacGtgggcgcagctgctccagct	8	7	14	12	2	0	2	0	1	0	1	2	3	2	3	2	3	3	5	2	3	0	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:149503054G>T	ENST00000378016.2	+	0	8558							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATCCAGACACGTGGGCGCAGC	0.637													28	27					4.87955e-14	5.91287e-14	1	0	T	149503054	G	T	149503054	1	4	124	0	1	0	0	0	0	0	0	0	15279	1145	40	3		3	SSPO	7	149503054	RNA	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	26234015	149503054	9635609	112	23925											
RHEB	6009	broad.mit.edu	37	chr7	151167697	151167697	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attccaaaaaagctgcattcCaagattctgccaaagctttc	14	11	5	11	0	1	1	0	0	1	1	4	1	3	1	3	0	4	3	3	0	5	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:151167697C>T	ENST00000262187.5	-	7	834	c.422G>A	c.(421-423)tGg>tAg	p.W141*	RHEB_ENST00000472642.1_Nonsense_Mutation_p.W36*|RHEB_ENST00000496004.1_Nonsense_Mutation_p.W36*	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	141					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		AGCTGCATTCCAAGATTCTGC	0.343													18	42					0	0	0	0	T	151167697	C	T	151167697	4	4	124	1	0	0	0	0	0	1	0	0	13411	595	21	4	140	4	RHEB	7	151167697	Nonsense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	1664643	151167697	7970966	113	23926											
CSMD1	64478	broad.mit.edu	37	chr8	2823429	2823429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaaggtgaagtcggtccCaaactggatgccatttgcta	10	11	12	8	1	0	2	0	2	0	0	2	3	1	3	2	3	3	2	2	3	4	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:2823429C>T	ENST00000520002.1	-	60	9706	c.9151G>A	c.(9151-9153)Ggg>Agg	p.G3051R	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3051R|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3050R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3051	Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTCGGTCCCAAACTGGATG	0.448													8	14					0	0	0	0	T	2823429	C	T	2823429	3	4	124	1	0	0	0	0	1	0	0	0	3976	594	21	4	1594	4	CSMD1	8	2823429	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08		2823429	143540593	114	23927											
PIWIL2	55124	broad.mit.edu	37	chr8	22145047	22145047	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattattttccagccccaaTgtggagtgcaaaagcatgag	12	11	9	9	0	1	1	1	1	0	0	2	2	2	2	3	1	3	2	3	1	4	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:22145047T>C	ENST00000356766.6	+	7	898	c.750T>C	c.(748-750)aaT>aaC	p.N250N	PIWIL2_ENST00000454009.2_Silent_p.N250N|PIWIL2_ENST00000521356.1_Silent_p.N250N	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	250					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCAGCCCCAATGTGGAGTGCA	0.453											OREG0018608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	76					0	0	0	0	C	22145047	T	C	22145047	2	2	124	1	0	0	0	0	0	0	0	1	12030	1461	51	5		5	PIWIL2	8	22145047	Silent	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	19321618	22145047	124218975	115	23928											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24249885	24249885	+	Frame_Shift_Del	DEL	G	G	-																															acaaccagacagaaaagcatGgcaaagaggtaagcaaggtg																										TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:24249885delG	ENST00000256412.4	+	2	419	c.199delG	c.(199-201)gcfs	p.G67fs	ADAMDEC1_ENST00000538205.1_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Intron|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	67					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			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)		AGAAAAGCATGGCAAAGAGGT	0.363													8	31	---	---	---	---					-	24249885	G	-	24249885	7	5	124	1	0	1	0	1	0	0	0	0	254	1348	47	0	205	0	ADAMDEC1	8	24249885	Frame_Shift_Del	DEL	G	TCGA-CN-A641-01A-11D-A30E-08	2104838	24249885	122114137	116	23929											
GTF2E2	2961	broad.mit.edu	37	chr8	30511011	30511011	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttttcttcttctttgaCgatgatgatgatgactcaga	8	19	8	6	1	4	6	1	5	3	1	4	7	4	6	0	0	0	1	0	0	0	6	rs116171256	by1000genomes	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:30511011C>A	ENST00000355904.4	-	2	387	c.105G>T	c.(103-105)tcG>tcT	p.S35S		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	35	Poly-Ser.				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TCTTCTTTGACGATGATGATG	0.383													19	96					2.39187e-15	3.00443e-15	1	0	A	30511011	C	A	30511011	2	1	124	1	0	0	0	0	0	0	0	1	6907	523	19	3		3	GTF2E2	8	30511011	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	6261126	30511011	115853011	117	23930											
SFRP1	6422	broad.mit.edu	37	chr8	41122744	41122744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcattttcttcatgaagTttttgaactccttgtttttc	6	24	4	7	0	3	2	2	2	1	0	5	2	4	2	1	0	1	2	1	0	2	10			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:41122744T>C	ENST00000220772.3	-	3	1224	c.887A>G	c.(886-888)aAc>aGc	p.N296S	SFRP1_ENST00000379845.3_Missense_Mutation_p.N160S	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	296	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CTTCATGAAGTTTTTGAACTC	0.532													7	30					0	0	0	0	C	41122744	T	C	41122744	3	2	124	1	0	0	0	0	1	0	0	0	14248	1725	60	5	61	5	SFRP1	8	41122744	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	10611733	41122744	105241278	118	23931											
TGS1	96764	broad.mit.edu	37	chr8	56699252	56699252	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttggacttttgatgcctcGcaaagctgtgatacagatac	10	12	11	8	1	0	3	0	2	0	1	1	4	0	4	1	2	4	3	1	2	3	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:56699252G>A	ENST00000260129.5	+	4	1272	c.795G>A	c.(793-795)tcG>tcA	p.S265S		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	265					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	p.S265S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TTGATGCCTCGCAAAGCTGTG	0.363													4	166					0	0	0	0	A	56699252	G	A	56699252	2	1	124	1	0	0	0	0	0	0	0	1	15931	1074	38	1		1	TGS1	8	56699252	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	15576508	56699252	89664770	119	23932											
ASPH	444	broad.mit.edu	37	chr8	62438567	62438567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgtgaactggctccagtcCcctttttccctcaggttttc	5	14	8	14	1	1	1	1	1	0	0	5	1	4	1	4	2	2	2	4	2	1	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:62438567C>T	ENST00000541428.1	-	22	1942	c.1782G>A	c.(1780-1782)ggG>ggA	p.G594G	ASPH_ENST00000379454.4_Silent_p.G623G	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	623					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GGCTCCAGTCCCCTTTTTCCC	0.493													42	67					0	0	0	0	T	62438567	C	T	62438567	2	4	124	1	0	0	0	0	0	0	0	1	1057	610	22	4		4	ASPH	8	62438567	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	5739315	62438567	83925455	120	23933											
PREX2	80243	broad.mit.edu	37	chr8	68965416	68965416	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatggtttgtttgtatggCaaaaacacctgaagagaagc	15	11	10	5	0	0	2	0	1	0	1	0	3	0	2	1	2	2	4	1	2	7	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:68965416C>A	ENST00000288368.4	+	9	1305	c.1028C>A	c.(1027-1029)gCa>gAa	p.A343E	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	343	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTGTATGGCAAAAACACCT	0.383													31	62					3.80469e-20	4.96055e-20	1	0	A	68965416	C	A	68965416	3	1	124	1	0	0	0	0	1	0	0	0	12557	710	25	4	1062	4	PREX2	8	68965416	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	6526849	68965416	77398606	121	23934											
KCNB2	9312	broad.mit.edu	37	chr8	73849153	73849153	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagccaaaaagactcccaCgagcagctgaacaacacgtc	15	5	8	13	2	0	2	0	1	0	1	2	3	1	2	2	0	5	3	2	0	5	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:73849153C>T	ENST00000523207.1	+	3	2151	c.1563C>T	c.(1561-1563)caC>caT	p.H521H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	521					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGACTCCCACGAGCAGCTGA	0.517													41	84					0	0	0	0	T	73849153	C	T	73849153	2	4	124	1	0	0	0	0	0	0	0	1	8066	535	19	1		1	KCNB2	8	73849153	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	4883737	73849153	72514869	122	23935											
ZFHX4	79776	broad.mit.edu	37	chr8	77768272	77768272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaaaagtgagggagaccGttggcagtcagctcgatcgg	10	9	14	8	3	2	2	2	1	0	1	4	4	2	2	1	3	1	3	1	3	2	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:77768272G>T	ENST00000521891.2	+	10	9563	c.9115G>T	c.(9115-9117)Gtt>Ttt	p.V3039F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.V2994F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V2994F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V3013F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2994						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGGGAGACCGTTGGCAGTCA	0.502										HNSCC(33;0.089)			28	62					1.16021e-09	1.34776e-09	1	0	T	77768272	G	T	77768272	3	4	124	1	0	0	0	0	1	0	0	0	17730	1145	40	3	9149	3	ZFHX4	8	77768272	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	3919119	77768272	68595750	123	23936											
SPAG1	6674	broad.mit.edu	37	chr8	101245762	101245762	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctctggctcataaaggactCaaggtgaggaaatcttcatt	12	11	10	8	0	5	1	3	1	2	0	5	3	5	3	0	4	0	2	0	4	4	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:101245762C>G	ENST00000388798.2	+	16	2303	c.2112C>G	c.(2110-2112)ctC>ctG	p.L704L	SPAG1_ENST00000251809.3_Silent_p.L704L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	704					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ATAAAGGACTCAAGGTGAGGA	0.438													5	6					0	0	0	0	G	101245762	C	G	101245762	2	3	124	1	0	0	0	0	0	0	0	1	15065	813	29	2		2	SPAG1	8	101245762	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	23477490	101245762	45118260	124	23937											
PKHD1L1	93035	broad.mit.edu	37	chr8	110451194	110451194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaaaacatggcggtgtatGttggaggaaaaacctgccag	14	7	12	8	1	0	0	0	0	0	0	0	2	0	2	2	4	3	2	2	4	5	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:110451194G>A	ENST00000378402.5	+	32	3933	c.3829G>A	c.(3829-3831)Gtt>Att	p.V1277I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1277	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGCGGTGTATGTTGGAGGAAA	0.338										HNSCC(38;0.096)			17	52					0	0	0	0	A	110451194	G	A	110451194	3	1	124	1	0	0	0	0	1	0	0	0	12044	1377	48	4	3955	4	PKHD1L1	8	110451194	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	9205432	110451194	35912828	125	23938											
KCNV1	27012	broad.mit.edu	37	chr8	110980721	110980722	+	Frame_Shift_Ins	INS	-	-	A																															tcaggaatgctttgctcagcINSaaagtattctacagttgaaa																										TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:110980721_110980722insA	ENST00000524391.1	-	4	2130_2131	c.1098_1099insT	c.(1096-1101)ttctgafs	p.*367fs	KCNV1_ENST00000297404.1_Frame_Shift_Ins_p.*367fs			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	367						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTTTGCTCAGCAAAGTATTCTA	0.48													26	52	---	---	---	---					A	110980722	-	A	110980721	7	5	124	1	0	1	1	0	0	0	0	0	8147	710	25	0	407	0	KCNV1	8	110980721	Frame_Shift_Ins	INS	-	TCGA-CN-A641-01A-11D-A30E-08	529527	110980721	35383301	126	23939											
CSMD3	114788	broad.mit.edu	37	chr8	113308093	113308093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctgaccagaccaattGtgatcctgttgacatatcct	10	11	10	10	0	0	4	0	3	0	1	2	5	2	5	4	1	1	2	4	1	2	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:113308093G>T	ENST00000297405.5	-	54	8827	c.8583C>A	c.(8581-8583)caC>caA	p.H2861Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.H2791Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2692Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2821Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2861	Sushi 18.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGACCAATTGTGATCCTGTT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	14					0.0692343	0.0696853	1	0	T	113308093	G	T	113308093	3	4	124	1	0	0	0	0	1	0	0	0	3978	1368	48	4	2612	4	CSMD3	8	113308093	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	2327372	113308093	33055929	127	23940											
CSMD3	114788	broad.mit.edu	37	chr8	113402995	113402995	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatagtccctttgcgcttAgttaaaattccaccacaggg	13	11	7	10	1	0	0	0	0	0	0	2	0	2	0	3	1	1	2	3	1	6	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:113402995A>G	ENST00000297405.5	-	36	6076	c.5832T>C	c.(5830-5832)acT>acC	p.T1944T	CSMD3_ENST00000352409.3_Silent_p.T1874T|CSMD3_ENST00000455883.2_Silent_p.T1840T|CSMD3_ENST00000343508.3_Silent_p.T1904T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1944	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTGCGCTTAGTTAAAATTC	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	19					0	0	0	0	G	113402995	A	G	113402995	2	3	124	1	0	0	0	0	0	0	0	1	3978	407	15	5		5	CSMD3	8	113402995	Silent	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	94902	113402995	32961027	128	23941											
FAM135B	51059	broad.mit.edu	37	chr8	139277993	139277993	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggaagaccacagcatcatTtatgggtacctcttcattcc	10	12	7	12	1	3	1	2	0	1	1	5	2	4	2	3	2	2	2	3	2	3	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:139277993T>G	ENST00000395297.1	-	4	420	c.250A>C	c.(250-252)Aat>Cat	p.N84H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	84										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACAGCATCATTTATGGGTACC	0.493										HNSCC(54;0.14)			19	51					0	0	0	0	G	139277993	T	G	139277993	3	3	124	1	0	0	0	0	1	0	0	0	5490	1841	64	5	4038	5	FAM135B	8	139277993	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	25874998	139277993	7086029	129	23942											
DMRT3	58524	broad.mit.edu	37	chr9	990958	990958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaccgaggacgactatgacGagaggtctgactcctcagac	12	6	11	12	3	2	4	1	2	1	2	3	8	3	5	2	2	0	0	2	2	1	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:990958G>A	ENST00000190165.2	+	2	1410	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	458					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CGACTATGACGAGAGGTCTGA	0.522													54	54					0	0	0	0	A	990958	G	A	990958	3	1	124	1	0	0	0	0	1	0	0	0	4624	1059	37	1	1378	1	DMRT3	9	990958	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08		990958	140222473	130	23943											
GLDC	2731	broad.mit.edu	37	chr9	6536092	6536092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattgaccctggggtcgatgCggccctcctcaatgtcagca	7	9	12	13	2	2	1	2	1	0	0	4	3	3	1	3	3	2	1	3	3	1	1	rs151100082		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:6536092C>T	ENST00000321612.6	-	23	2960	c.2810G>A	c.(2809-2811)cGc>cAc	p.R937H		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	937					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GGGGTCGATGCGGCCCTCCTC	0.522													3	35					0	0	0	0	T	6536092	C	T	6536092	3	4	124	1	0	0	0	0	1	0	0	0	6484	768	27	1	264	1	GLDC	9	6536092	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	5545134	6536092	134677339	131	23944											
DENND4C	55667	broad.mit.edu	37	chr9	19350802	19350802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcagggttggtccccagtGaacttacccagagcaacaca	11	8	9	13	0	1	2	1	1	1	1	3	2	2	2	3	2	4	2	3	2	3	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:19350802G>A	ENST00000307015.9	+	20	3736	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	DENND4C_ENST00000380432.2_Missense_Mutation_p.E1189K|DENND4C_ENST00000602925.1_Missense_Mutation_p.E1425K|DENND4C_ENST00000540671.1_Missense_Mutation_p.E519K|DENND4C_ENST00000434457.2_Missense_Mutation_p.E1474K			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1189						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGTCCCCAGTGAACTTACCCA	0.453													5	81					0	0	0	0	A	19350802	G	A	19350802	3	1	124	1	0	0	0	0	1	0	0	0	4472	1291	45	2	3639	2	DENND4C	9	19350802	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	12814710	19350802	121862629	132	23945											
SLC24A2	25769	broad.mit.edu	37	chr9	19786496	19786496	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctcaagggaaaagatGtctttcgggtagtctccttg	8	13	10	10	1	4	1	1	0	3	1	7	2	4	2	2	2	0	1	2	2	4	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:19786496G>A	ENST00000341998.2	-	1	430	c.369C>T	c.(367-369)gaC>gaT	p.D123D	SLC24A2_ENST00000286344.3_Silent_p.D123D	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	123					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GGGAAAAGATGTCTTTCGGGT	0.433													24	42					0	0	0	0	A	19786496	G	A	19786496	2	1	124	1	0	0	0	0	0	0	0	1	14554	1368	48	4		4	SLC24A2	9	19786496	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	435694	19786496	121426935	133	23946											
TAF1L	138474	broad.mit.edu	37	chr9	32634582	32634582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggactccacaggaaccatCatcgtgatttcatcatcagc	11	11	7	12	1	4	1	4	1	0	0	6	3	5	3	2	2	2	0	2	2	1	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:32634582C>T	ENST00000242310.4	-	1	1085	c.996G>A	c.(994-996)atG>atA	p.M332I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	332					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAGGAACCATCATCGTGATTT	0.488													4	116					0	0	0	0	T	32634582	C	T	32634582	3	4	124	1	0	0	0	0	1	0	0	0	15614	826	29	2	4488	2	TAF1L	9	32634582	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	12848086	32634582	108578849	134	23947											
FAM189A2	9413	broad.mit.edu	37	chr9	71998550	71998550	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagtcgcttttcctaggatgGttggtcctgatgttattccc	6	16	10	9	1	0	1	0	1	0	0	4	2	3	2	3	3	0	3	3	3	3	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:71998550G>C	ENST00000257515.8	+	7	919	c.499G>C	c.(499-501)Gtt>Ctt	p.V167L	FAM189A2_ENST00000455972.1_Missense_Mutation_p.V167L|FAM189A2_ENST00000303068.7_Missense_Mutation_p.V2L	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	167						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TCCTAGGATGGTTGGTCCTGA	0.537													80	188					0	0	0	0	C	71998550	G	C	71998550	3	2	124	1	0	0	0	0	1	0	0	0	5559	1261	44	4	521	4	FAM189A2	9	71998550	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	39363968	71998550	69214881	135	23948											
TRPM3	80036	broad.mit.edu	37	chr9	73151800	73151800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacatagatgtctatacacGatgatggtcttctggaatca	13	12	9	7	1	4	3	1	1	3	2	4	5	4	4	0	2	1	0	0	2	4	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:73151800G>A	ENST00000377110.2	-	25	4436	c.4193C>T	c.(4192-4194)tCg>tTg	p.S1398L	TRPM3_ENST00000396280.5_Missense_Mutation_p.S1247L|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1257L|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1260L|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1270L|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1425L|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1402L|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1257L|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1270L|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1257L|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1260L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1423						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTCTATACACGATGATGGTCT	0.512													48	88					0	0	0	0	A	73151800	G	A	73151800	3	1	124	1	0	0	0	0	1	0	0	0	16682	1059	37	1	934	1	TRPM3	9	73151800	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	1153250	73151800	68061631	136	23949											
TLE1	7088	broad.mit.edu	37	chr9	84267137	84267137	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggccacgtaccccgatgaTggcattcaattctgccatgg	9	10	10	12	2	2	1	1	1	1	0	2	2	2	1	4	3	2	2	4	3	3	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:84267137T>C	ENST00000376499.3	-	6	1428	c.364A>G	c.(364-366)Atc>Gtc	p.I122V	TLE1_ENST00000376463.1_Missense_Mutation_p.I66V|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	122	Gln-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ACCCCGATGATGGCATTCAAT	0.463													69	164					0	0	0	0	C	84267137	T	C	84267137	3	2	124	1	0	0	0	0	1	0	0	0	16032	1464	51	5	2008	5	TLE1	9	84267137	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	11115337	84267137	56946294	137	23950											
ZNF782	158431	broad.mit.edu	37	chr9	99581054	99581054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgtatggtttctctccCgtgtgagttctctgatgttt	4	20	9	8	1	2	2	0	2	2	0	5	2	3	2	1	1	0	4	1	1	1	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:99581054C>T	ENST00000481138.1	-	6	1912	c.1251G>A	c.(1249-1251)acG>acA	p.T417T	ZNF782_ENST00000535338.1_Silent_p.T285T	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GTTTCTCTCCCGTGTGAGTTC	0.468													4	131					0	0	0	0	T	99581054	C	T	99581054	2	4	124	1	0	0	0	0	0	0	0	1	18248	639	23	1		1	ZNF782	9	99581054	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	15313917	99581054	41632377	138	23951											
NUP214	8021	broad.mit.edu	37	chr9	134016058	134016058	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcatcaaaacaccagagCgactttcattagaaggagag	15	8	8	10	1	3	3	3	0	1	3	4	5	3	3	1	1	2	0	1	1	4	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:134016058C>T	ENST00000359428.5	+	11	1399	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	NUP214_ENST00000451030.1_Nonsense_Mutation_p.R419*|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Nonsense_Mutation_p.R419*|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	419					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AACACCAGAGCGACTTTCATT	0.433			T	"DEK, SET, ABL1"	"AML, T-ALL"								4	96					0	0	0	0	T	134016058	C	T	134016058	4	4	124	1	0	0	0	0	0	1	0	0	10833	760	27	1	1297	1	NUP214	9	134016058	Nonsense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	34435004	134016058	7197373	139	23952											
DBH	1621	broad.mit.edu	37	chr9	136501760	136501760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgtcctgtttgggatGtccgaccgtggcgagcttga	4	11	16	10	4	0	1	0	1	0	0	2	4	2	2	3	3	1	3	3	3	0	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:136501760G>A	ENST00000393056.2	+	1	279	c.267G>A	c.(265-267)atG>atA	p.M89I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	89	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TGTTTGGGATGTCCGACCGTG	0.607													18	45					0	0	0	0	A	136501760	G	A	136501760	3	1	124	1	0	0	0	0	1	0	0	0	4283	1377	48	4	269	4	DBH	9	136501760	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	2485702	136501760	4711671	140	23953											
SEC16A	9919	broad.mit.edu	37	chr9	139366549	139366549	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgtatcgaggctcataGaggctgtagacatcctgtgg	8	10	14	9	1	1	2	1	0	0	2	3	3	2	2	2	4	0	4	2	4	3	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:139366549G>T	ENST00000313050.7	-	2	3655	c.3582C>A	c.(3580-3582)ctC>ctA	p.L1194L	SEC16A_ENST00000431893.2_Silent_p.L1016L|SEC16A_ENST00000371706.3_Silent_p.L1016L|SEC16A_ENST00000290037.6_Silent_p.L1016L	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1016	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGGCTCATAGAGGCTGTAGA	0.577													6	66					5.18039e-06	5.55813e-06	1	0	T	139366549	G	T	139366549	2	4	124	1	0	0	0	0	0	0	0	1	14073	929	33	2		2	SEC16A	9	139366549	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	2864789	139366549	1846882	141	23954											
PNPLA7	375775	broad.mit.edu	37	chr9	140356757	140356757	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacacacgtaggccaggcgCgtctgaatctctgccatgtt	9	9	10	13	3	2	1	0	1	2	0	3	1	2	1	2	2	2	2	2	2	3	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:140356757C>T	ENST00000406427.1	-	31	3855	c.3519G>A	c.(3517-3519)acG>acA	p.T1173T	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Silent_p.T1148T|PNPLA7_ENST00000371457.1_Silent_p.T754T	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1148					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGGCCAGGCGCGTCTGAATCT	0.667													34	77					0	0	0	0	T	140356757	C	T	140356757	2	4	124	1	0	0	0	0	0	0	0	1	12242	755	27	1		1	PNPLA7	9	140356757	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	990208	140356757	856674	142	23955											
SLC39A12	221074	broad.mit.edu	37	chr10	18331714	18331714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttggattgatcctaggttgGctttctctcctgctcttggc	3	18	10	10	0	2	1	0	1	2	0	5	2	4	2	2	4	1	3	2	4	1	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:18331714G>T	ENST00000377369.2	+	13	2301	c.2028G>T	c.(2026-2028)tgG>tgT	p.W676C	SLC39A12_ENST00000377371.3_Missense_Mutation_p.W675C|SLC39A12_ENST00000539911.1_Missense_Mutation_p.W542C|SLC39A12_ENST00000377374.4_Missense_Mutation_p.W639C	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	676					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCCTAGGTTGGCTTTCTCTCC	0.333													18	33					1.02788e-11	1.21227e-11	1	0	T	18331714	G	T	18331714	3	4	124	1	0	0	0	0	1	0	0	0	14703	1212	42	4	2074	4	SLC39A12	10	18331714	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08		18331714	117203033	143	23956											
ANKRD26	22852	broad.mit.edu	37	chr10	27349299	27349299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggatgtttgtacatccttCattcctcctgctttatttgg	5	20	7	9	0	1	0	1	0	0	0	4	1	4	1	3	2	2	3	3	2	2	8			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:27349299C>T	ENST00000376087.4	-	15	1704	c.1539G>A	c.(1537-1539)atG>atA	p.M513I	ANKRD26_ENST00000436985.2_Missense_Mutation_p.M529I	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	513						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GTACATCCTTCATTCCTCCTG	0.289													30	83					0	0	0	0	T	27349299	C	T	27349299	3	4	124	1	0	0	0	0	1	0	0	0	654	826	29	2	3673	2	ANKRD26	10	27349299	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	9017585	27349299	108185448	144	23957											
C10orf53	282966	broad.mit.edu	37	chr10	50901953	50901953	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttcggtaagccctttggCgatgcttccagccagcaatt	8	11	11	11	2	0	0	0	0	0	0	2	2	1	0	3	2	4	4	3	2	2	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:50901953C>A	ENST00000374113.3	+	2	278	c.231C>A	c.(229-231)ggC>ggA	p.G77G	C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374111.3_Intron|C10orf53_ENST00000374112.3_Intron			Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				AGCCCTTTGGCGATGCTTCCA	0.443													26	46					1.26454e-06	1.37586e-06	1	0	A	50901953	C	A	50901953	2	1	124	1	0	0	0	0	0	0	0	1	1616	783	27	3		3	C10orf53	10	50901953	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	23552654	50901953	84632794	145	23958											
C10orf11	83938	broad.mit.edu	37	chr10	77818527	77818527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagaggagtcttcatgaagGtggtgaagcccaaggtgagc	11	8	15	7	0	3	4	2	3	1	1	3	5	3	5	1	4	2	0	1	4	3	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:77818527G>T	ENST00000372499.1	+	4	633	c.418G>T	c.(418-420)Gtg>Ttg	p.V140L	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	140										endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					CTTCATGAAGGTGGTGAAGCC	0.498													26	68					1.1804e-14	1.44167e-14	1	0	T	77818527	G	T	77818527	3	4	124	1	0	0	0	0	1	0	0	0	1592	1261	44	4	432	4	C10orf11	10	77818527	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	26916574	77818527	57716220	146	23959											
NRG3	10718	broad.mit.edu	37	chr10	83635834	83635834	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctggaccctgtctccCtttcaggatgctgcctcctc	3	12	7	19	0	2	0	1	0	1	0	6	2	4	2	6	2	2	1	6	2	0	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:83635834C>A	ENST00000404547.1	+	1	738	c.738C>A	c.(736-738)ccC>ccA	p.P246P	NRG3_ENST00000372141.2_Silent_p.P246P			P56975	NRG3_HUMAN	neuregulin 3	246	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCCTGTCTCCCTTTCAGGATG	0.547													7	22					0.000157383	0.000165978	1	0	A	83635834	C	A	83635834	2	1	124	1	0	0	0	0	0	0	0	1	10720	668	24	4		4	NRG3	10	83635834	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	5817307	83635834	51898913	147	23960											
PLCE1	51196	broad.mit.edu	37	chr10	96006283	96006283	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctaaaatgctcttcagcGgattattggaactcactaga	13	11	8	9	1	3	1	2	0	1	1	3	3	3	3	0	2	4	2	0	2	5	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:96006283G>T	ENST00000260766.3	+	8	3635	c.3001G>T	c.(3001-3003)Gga>Tga	p.G1001*	PLCE1_ENST00000371380.2_Nonsense_Mutation_p.G1001*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.G693*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.G693*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1001					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCTCTTCAGCGGATTATTGGA	0.473													45	87					3.54561e-26	4.8693e-26	1	0	T	96006283	G	T	96006283	4	4	124	1	0	0	0	0	0	1	0	0	12106	1117	39	3	3313	3	PLCE1	10	96006283	Nonsense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	12370449	96006283	39528464	148	23961											
TBC1D12	23232	broad.mit.edu	37	chr10	96256890	96256890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatattgcaagtgcaatggTaatttggatcaatgaaatac	17	12	8	4	0	1	1	1	1	0	0	1	2	1	2	0	2	3	3	0	2	8	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:96256890T>C	ENST00000225235.4	+	5	1483	c.1373T>C	c.(1372-1374)gTa>gCa	p.V458A		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	458						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AGTGCAATGGTAATTTGGATC	0.313													18	37					0	0	0	0	C	96256890	T	C	96256890	3	2	124	1	0	0	0	0	1	0	0	0	15692	1638	57	5	1391	5	TBC1D12	10	96256890	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	250607	96256890	39277857	149	23962											
LBX1	10660	broad.mit.edu	37	chr10	102988516	102988516	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcggaggcaggtggtccagCgggctgcgccgccgctcctc	3	5	18	15	5	0	0	0	0	0	0	3	1	2	1	4	6	2	3	4	6	0	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:102988516C>T	ENST00000370193.2	-	1	1035	c.57G>A	c.(55-57)ccG>ccA	p.P19P		NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	19					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		GGTGGTCCAGCGGGCTGCGCC	0.697													16	22					0	0	0	0	T	102988516	C	T	102988516	2	4	124	1	0	0	0	0	0	0	0	1	8706	755	27	1		1	LBX1	10	102988516	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	6731626	102988516	32546231	150	23963											
HSPA12A	259217	broad.mit.edu	37	chr10	118460580	118460580	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacttcctctcgggagtCagcaagatggtggttggagt	8	11	15	7	1	2	1	1	0	1	1	4	4	3	4	1	5	2	2	1	5	2	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:118460580C>A	ENST00000369209.3	-	4	419	c.315G>T	c.(313-315)ctG>ctT	p.L105L		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	105							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCTCGGGAGTCAGCAAGATGG	0.557													40	87					1.22674e-20	1.61993e-20	1	0	A	118460580	C	A	118460580	2	1	124	1	0	0	0	0	0	0	0	1	7456	813	29	2		2	HSPA12A	10	118460580	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	15472064	118460580	17074167	151	23964											
C10orf90	118611	broad.mit.edu	37	chr10	128192872	128192872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccatctgctgttaatctGtgggaactacaattgaggtt	10	14	9	8	0	2	1	0	1	2	0	3	2	3	2	1	2	3	3	1	2	4	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:128192872G>T	ENST00000284694.7	-	3	1017	c.897C>A	c.(895-897)caC>caA	p.H299Q	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.H252Q|C10orf90_ENST00000544758.1_Missense_Mutation_p.H396Q|C10orf90_ENST00000392694.1_Missense_Mutation_p.H252Q|C10orf90_ENST00000454341.1_Missense_Mutation_p.H299Q	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	299										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTGTTAATCTGTGGGAACTAC	0.537											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	154					1	1	1	0	T	128192872	G	T	128192872	3	4	124	1	0	0	0	0	1	0	0	0	1633	1368	48	4	1230	4	C10orf90	10	128192872	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	9732292	128192872	7341875	152	23965											
MUC5B	727897	broad.mit.edu	37	chr11	1264610	1264610	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgctgaccaccaccgccaCcacacctgcagccaccagca	11	3	7	20	1	0	1	0	1	0	0	0	1	0	1	8	0	4	3	8	0	0	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:1264610C>A	ENST00000447027.1	+	31	6567	c.6509C>A	c.(6508-6510)aCc>aAc	p.T2170N	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2167N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2167	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		accaccgccaccacacctgca	0.657													6	6					0.217242	0.217948	1	0	A	1264610	C	A	1264610	3	1	124	1	0	0	0	0	1	0	0	0	10049	507	18	4	6631	4	MUC5B	11	1264610	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08		1264610	133741906	153	23966											
OR52I1	390037	broad.mit.edu	37	chr11	4615567	4615567	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctccatcagctttagtgCttgtttcactcagatgtttt	7	17	7	10	0	3	1	3	0	0	1	4	1	4	1	1	0	3	5	1	0	1	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:4615567C>G	ENST00000450052.2	+	2	371	c.371C>G	c.(370-372)gCt>gGt	p.A124G	OR52I1_ENST00000530443.2_Missense_Mutation_p.A100G			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A125V(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTTTAGTGCTTGTTTCACT	0.527													45	105					0	0	0	0	G	4615567	C	G	4615567	3	3	124	1	0	0	0	0	1	0	0	0	11191	797	28	4	301	4	OR52I1	11	4615567	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	3350957	4615567	130390949	154	23967											
OR51G2	81282	broad.mit.edu	37	chr11	4936656	4936656	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactgtagggagagtgcaaaGggagagacccaggtcaatca	14	5	15	7	0	2	2	2	0	0	2	2	6	2	3	1	3	1	2	1	3	3	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:4936656G>C	ENST00000322013.3	-	1	266	c.238C>G	c.(238-240)Ctt>Gtt	p.L80V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAGTGCAAAGGGAGAGACCC	0.463													18	47					0	0	0	0	C	4936656	G	C	4936656	3	2	124	1	0	0	0	0	1	0	0	0	11170	1000	35	4	710	4	OR51G2	11	4936656	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	321089	4936656	130069860	155	23968											
OR52N1	79473	broad.mit.edu	37	chr11	5809420	5809420	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcacaggatatcaaagccCccaatcagcagggcaactat	15	6	8	12	0	2	0	2	0	0	0	2	1	2	1	2	2	4	3	2	2	5	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:5809420C>A	ENST00000317078.1	-	1	626	c.627G>T	c.(625-627)ggG>ggT	p.G209G	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TATCAAAGCCCCCAATCAGCA	0.468													19	67					2.94398e-08	3.35679e-08	1	0	A	5809420	C	A	5809420	2	1	124	1	0	0	0	0	0	0	0	1	11198	610	22	4		4	OR52N1	11	5809420	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	872764	5809420	129197096	156	23969											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159265	18159265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtggtgctaattctgtttgGtgtgaaacgtcagatttcat	9	16	11	5	1	3	2	2	1	1	1	3	2	3	2	0	2	2	2	0	2	2	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:18159265G>C	ENST00000396275.2	+	3	877	c.516G>C	c.(514-516)tgG>tgC	p.W172C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	172				W -> R (in Ref. 2; AAL86879).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ATTCTGTTTGGTGTGAAACGT	0.502													59	150					0	0	0	0	C	18159265	G	C	18159265	3	2	124	1	0	0	0	0	1	0	0	0	9838	1270	44	4	518	4	MRGPRX3	11	18159265	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	12349845	18159265	116847251	157	23970											
LRRC4C	57689	broad.mit.edu	37	chr11	40137647	40137647	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccggaacctcacgcaggtTtttccgaacacaaatcacct	12	9	6	14	3	2	0	2	0	0	0	4	2	4	1	4	2	2	2	4	2	3	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:40137647T>A	ENST00000278198.2	-	2	2159	c.196A>T	c.(196-198)Aac>Tac	p.N66Y	LRRC4C_ENST00000527150.1_Missense_Mutation_p.N66Y|LRRC4C_ENST00000530763.1_Missense_Mutation_p.N66Y|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N66Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	66	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCACGCAGGTTTTTCCGAACA	0.522													15	40					0	0	0	0	A	40137647	T	A	40137647	3	1	124	1	0	0	0	0	1	0	0	0	9072	1841	64	5	1730	5	LRRC4C	11	40137647	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	21978382	40137647	94868869	158	23971											
PRDM11	56981	broad.mit.edu	37	chr11	45246018	45246018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagcacctcactggtcatCaggaaagtccccaaatacca	13	7	7	14	0	3	1	3	1	0	0	4	2	4	2	4	2	2	1	4	2	3	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:45246018C>T	ENST00000263765.4	+	8	1344	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000530656.1_Silent_p.I365I|PRDM11_ENST00000424263.2_Silent_p.I331I			Q9NQV5	PRD11_HUMAN	PR domain containing 11	365										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CACTGGTCATCAGGAAAGTCC	0.527													81	158					0	0	0	0	T	45246018	C	T	45246018	2	4	124	1	0	0	0	0	0	0	0	1	12532	816	29	2		2	PRDM11	11	45246018	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	5108371	45246018	89760498	159	23972											
OR4C3	256144	broad.mit.edu	37	chr11	48346829	48346829	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgctgactcattgtatGaggggagaaccatctcttat	10	14	9	8	0	3	3	2	2	1	1	4	4	3	3	1	2	2	2	1	2	3	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:48346829G>T	ENST00000319856.4	+	1	358	c.337G>T	c.(337-339)Gag>Tag	p.E113*		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTCATTGTATGAGGGGAGAAC	0.443													34	324					8.18108e-13	9.79827e-13	1	0	T	48346829	G	T	48346829	4	4	124	1	0	0	0	0	0	1	0	0	11121	1291	45	2	339	2	OR4C3	11	48346829	Nonsense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	3100811	48346829	86659687	160	23973											
OR4C6	219432	broad.mit.edu	37	chr11	55433374	55433374	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctcccacctcacggtGgttgtattgttctttgtccc	4	15	9	13	1	2	0	1	0	1	0	4	0	4	0	3	2	2	5	3	2	1	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:55433374G>T	ENST00000314259.3	+	1	761	c.732G>T	c.(730-732)gtG>gtT	p.V244V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACCTCACGGTGGTTGTATTGT	0.502													38	98					9.80977e-26	1.33534e-25	1	0	T	55433374	G	T	55433374	2	4	124	1	0	0	0	0	0	0	0	1	11123	1335	47	4		4	OR4C6	11	55433374	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	7086545	55433374	79573142	161	23974											
OR8H3	390152	broad.mit.edu	37	chr11	55890061	55890061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcacctgtcatttattgaCctcagttactcaactgtcgt	9	15	5	12	1	4	1	4	1	0	0	5	1	4	1	2	0	2	1	2	0	3	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:55890061C>A	ENST00000313472.3	+	1	213	c.213C>A	c.(211-213)gaC>gaA	p.D71E		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CATTTATTGACCTCAGTTACT	0.443													103	359					4.55152e-58	6.69723e-58	1	0	A	55890061	C	A	55890061	3	1	124	1	0	0	0	0	1	0	0	0	11310	506	18	4	215	4	OR8H3	11	55890061	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	456687	55890061	79116455	162	23975											
OR5J2	282775	broad.mit.edu	37	chr11	55944850	55944850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgaccatattctatGgtaccttaatctttagctac	9	16	6	10	0	2	1	0	1	2	0	2	1	2	1	2	1	4	3	2	1	6	8			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:55944850G>A	ENST00000312298.1	+	1	757	c.757G>A	c.(757-759)Ggt>Agt	p.G253S		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CATATTCTATGGTACCTTAAT	0.448													50	118					0	0	0	0	A	55944850	G	A	55944850	3	1	124	1	0	0	0	0	1	0	0	0	11236	1348	47	4	759	4	OR5J2	11	55944850	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	54789	55944850	79061666	163	23976											
OR5AK2	390181	broad.mit.edu	37	chr11	56756990	56756990	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcatgctacttgttgTctttgtgggatctaacttga	9	16	8	8	0	3	1	1	1	2	0	3	2	3	2	0	1	4	2	0	1	3	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:56756990T>C	ENST00000326855.2	+	1	644	c.602T>C	c.(601-603)gTc>gCc	p.V201A		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CTACTTGTTGTCTTTGTGGGA	0.418													59	145					0	0	0	0	C	56756990	T	C	56756990	3	2	124	1	0	0	0	0	1	0	0	0	11213	1667	58	5	604	5	OR5AK2	11	56756990	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	812140	56756990	78249526	164	23977											
CATSPER1	117144	broad.mit.edu	37	chr11	65792739	65792739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatctgggtgacacgtgagCggattgtgctggaggaccga	9	8	16	8	3	1	2	0	2	1	0	1	6	1	5	1	4	2	1	1	4	0	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:65792739C>T	ENST00000312106.5	-	1	1249	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	371					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.R371H(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GACACGTGAGCGGATTGTGCT	0.557													10	63					0	0	0	0	T	65792739	C	T	65792739	3	4	124	1	0	0	0	0	1	0	0	0	2712	768	27	1	1278	1	CATSPER1	11	65792739	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	9035749	65792739	69213777	165	23978											
TYR	7299	broad.mit.edu	37	chr11	88911936	88911936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatcattcttctcctcttGgcaggtaagatatgctagat	10	14	8	9	0	4	2	1	0	3	2	5	2	4	2	1	2	2	4	1	2	3	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:88911936G>T	ENST00000263321.5	+	1	1317	c.815G>T	c.(814-816)tGg>tTg	p.W272L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	272			W -> C (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTCTCCTCTTGGCAGGTAAGA	0.458													17	44					1.99824e-07	2.24529e-07	1	0	T	88911936	G	T	88911936	3	4	124	1	0	0	0	0	1	0	0	0	16909	1357	47	4	817	4	TYR	11	88911936	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	23119197	88911936	46094580	166	23979											
FAT3	120114	broad.mit.edu	37	chr11	92507248	92507248	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgcagagaagggtgttGggacaattgtcatcgcaaaa	13	10	13	5	1	1	2	1	1	0	1	2	4	1	3	0	2	1	3	0	2	4	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:92507248G>C	ENST00000298047.6	+	6	4254	c.4237G>C	c.(4237-4239)Ggg>Cgg	p.G1413R	FAT3_ENST00000409404.2_Missense_Mutation_p.G1413R|FAT3_ENST00000525166.1_Missense_Mutation_p.G1263R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1413	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAGGGTGTTGGGACAATTGT	0.413										TCGA Ovarian(4;0.039)			13	67					0	0	0	0	C	92507248	G	C	92507248	3	2	124	1	0	0	0	0	1	0	0	0	5736	1348	47	4	4259	4	FAT3	11	92507248	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	3595312	92507248	42499268	167	23980											
BCO2	83875	broad.mit.edu	37	chr11	112050058	112050058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccgtctttgggcagtgtcGgggtctgccatgtgttgcac	4	12	15	10	2	2	0	0	0	2	0	3	0	2	0	2	3	3	3	2	3	0	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:112050058G>A	ENST00000357685.5	+	2	281	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	BCO2_ENST00000531169.1_Missense_Mutation_p.R15Q|BCO2_ENST00000438022.1_Missense_Mutation_p.R15Q|BCO2_ENST00000393032.2_Missense_Mutation_p.R15Q|BCO2_ENST00000361053.4_Missense_Mutation_p.R49Q|BCO2_ENST00000526088.1_Missense_Mutation_p.R15Q|BCO2_ENST00000532593.1_Intron|SDHD_ENST00000532699.1_Intron|SDHD_ENST00000532612.1_3'UTR			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	49					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GGGCAGTGTCGGGGTCTGCCA	0.488													5	95					0	0	0	0	A	112050058	G	A	112050058	3	1	124	1	0	0	0	0	1	0	0	0	1389	1116	39	1	152	1	BCO2	11	112050058	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	19542810	112050058	22956458	168	23981											
ARHGAP32	9743	broad.mit.edu	37	chr11	128993380	128993380	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acattctcataatggaaatgCgcacattcagccatcttcgg	12	11	7	11	2	3	0	2	0	2	0	5	1	3	1	1	2	2	1	1	2	2	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:128993380C>A	ENST00000310343.9	-	4	362	c.363G>T	c.(361-363)gcG>gcT	p.A121A	ARHGAP32_ENST00000524655.1_Silent_p.A47A	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	121					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AATGGAAATGCGCACATTCAG	0.328													10	18					1.08611e-07	1.22484e-07	1	0	A	128993380	C	A	128993380	2	1	124	1	0	0	0	0	0	0	0	1	883	755	27	3		3	ARHGAP32	11	128993380	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	16943322	128993380	6013136	169	23982											
ERC1	23085	broad.mit.edu	37	chr12	1481118	1481118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagcgggagaaggatcGtctggtacagcagcttaagc	11	7	14	9	2	1	2	0	1	1	1	2	4	1	3	1	3	5	3	1	3	4	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:1481118G>A	ENST00000397203.2	+	16	3306	c.2900G>A	c.(2899-2901)cGt>cAt	p.R967H	ERC1_ENST00000589028.1_Missense_Mutation_p.R967H|ERC1_ENST00000360905.4_Missense_Mutation_p.R967H|ERC1_ENST00000355446.5_Missense_Mutation_p.R967H|ERC1_ENST00000546231.2_Missense_Mutation_p.R971H|ERC1_ENST00000543086.3_Missense_Mutation_p.R939H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	967					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAGAAGGATCGTCTGGTACAG	0.507													11	24					0	0	0	0	A	1481118	G	A	1481118	3	1	124	1	0	0	0	0	1	0	0	0	5248	1145	40	1	2958	1	ERC1	12	1481118	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08		1481118	132370777	170	23983											
TEAD4	7004	broad.mit.edu	37	chr12	3129865	3129865	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcacccccatggcagggcCgcagcgtggccagctccaag	7	3	14	17	3	0	0	0	0	0	0	1	0	1	0	5	4	2	4	5	4	1	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:3129865C>G	ENST00000359864.2	+	9	839	c.649C>G	c.(649-651)Cgc>Ggc	p.R217G	TEAD4_ENST00000397122.2_Missense_Mutation_p.R88G|TEAD4_ENST00000358409.2_Missense_Mutation_p.R174G	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	217					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			ATGGCAGGGCCGCAGCGTGGC	0.657													23	51					0	0	0	0	G	3129865	C	G	3129865	3	3	124	1	0	0	0	0	1	0	0	0	15835	652	23	3	675	3	TEAD4	12	3129865	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	1648747	3129865	130722030	171	23984											
PIK3C2G	5288	broad.mit.edu	37	chr12	18524216	18524216	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaatgcaaatttactggcGtggacttgtcttccactgtt	10	14	8	9	1	1	0	0	0	1	0	2	1	2	1	1	2	3	2	1	2	4	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:18524216G>T	ENST00000433979.1	+	12	1844	c.1728G>T	c.(1726-1728)gcG>gcT	p.A576A	PIK3C2G_ENST00000538779.1_Silent_p.A617A|PIK3C2G_ENST00000266497.5_Silent_p.A576A	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	576					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTTACTGGCGTGGACTTGTC	0.368													14	34					7.93312e-07	8.72361e-07	1	0	T	18524216	G	T	18524216	2	4	124	1	0	0	0	0	0	0	0	1	11983	1132	40	3		3	PIK3C2G	12	18524216	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	15394351	18524216	115327679	172	23985											
PYROXD1	79912	broad.mit.edu	37	chr12	21614000	21614000	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaactatgtgtgaagtaaaGaaaatctaccttcaggatga	17	10	9	5	0	2	3	1	2	1	1	2	5	2	4	1	1	2	1	1	1	8	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:21614000G>A	ENST00000538582.1	+	8	1332	c.579G>A	c.(577-579)aaG>aaA	p.K193K	PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000240651.9_Silent_p.K264K			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	264							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GTGAAGTAAAGAAAATCTACC	0.328													20	43					0	0	0	0	A	21614000	G	A	21614000	2	1	124	1	0	0	0	0	0	0	0	1	12948	933	33	2		2	PYROXD1	12	21614000	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	3089784	21614000	112237895	173	23986											
CNTN1	1272	broad.mit.edu	37	chr12	41323676	41323676	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcgatttgtgtctcagaCaaatggcaatctctacattg	11	12	9	9	2	2	1	1	0	2	1	4	2	2	1	0	2	1	1	0	2	3	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:41323676C>A	ENST00000551295.2	+	7	692	c.575C>A	c.(574-576)aCa>aAa	p.T192K	CNTN1_ENST00000547702.1_Missense_Mutation_p.T192K|CNTN1_ENST00000547849.1_Missense_Mutation_p.T192K|CNTN1_ENST00000348761.2_Missense_Mutation_p.T181K|CNTN1_ENST00000347616.1_Missense_Mutation_p.T192K|CNTN1_ENST00000360099.3_Missense_Mutation_p.T192K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	192	Ig-like C2-type 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTGTCTCAGACAAATGGCAAT	0.388													40	74					3.21399e-22	4.28071e-22	1	0	A	41323676	C	A	41323676	3	1	124	1	0	0	0	0	1	0	0	0	3670	478	17	4	597	4	CNTN1	12	41323676	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	19709676	41323676	92528219	174	23987											
PTPRB	5787	broad.mit.edu	37	chr12	71029627	71029627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgatcatagcaggtccatCggggtgcctgggaacagcgg	8	7	15	11	2	1	1	1	1	0	0	3	2	2	2	3	5	4	1	3	5	2	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:71029627C>T	ENST00000334414.6	-	2	319	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.R92Q|PTPRB_ENST00000551525.1_Missense_Mutation_p.R91Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCAGGTCCATCGGGGTGCCTG	0.547													16	22					0	0	0	0	T	71029627	C	T	71029627	3	4	124	1	0	0	0	0	1	0	0	0	12878	884	31	1	6562	1	PTPRB	12	71029627	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	29705951	71029627	62822268	175	23988											
CCDC41	51134	broad.mit.edu	37	chr12	94794751	94794751	+	Frame_Shift_Del	DEL	C	C	-																															atatacagctctatacttttCtacctcctaaagggagaatg																										TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:94794751delC	ENST00000397809.5	-	6	973	c.424delG	c.(424-426)aafs	p.E142fs	CCDC41_ENST00000397807.2_Frame_Shift_Del_p.E109fs|CCDC41_ENST00000547575.1_Frame_Shift_Del_p.E142fs|CCDC41_ENST00000339839.5_Frame_Shift_Del_p.E142fs|CCDC41_ENST00000549352.1_5'UTR	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	134										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTATACTTTTCTACCTCCTAA	0.294													25	74	---	---	---	---					-	94794751	C	-	94794751	7	5	124	1	0	1	0	1	0	0	0	0	2839	922	32	0	1729	0	CCDC41	12	94794751	Frame_Shift_Del	DEL	C	TCGA-CN-A641-01A-11D-A30E-08	23765124	94794751	39057144	176	23989											
ORAI1	84876	broad.mit.edu	37	chr12	122079195	122079195	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccaccgtcatcggcacGctgctcttcctagctgaggt	5	12	9	15	3	3	1	1	1	2	0	6	1	4	1	3	2	2	4	3	2	1	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:122079195G>T	ENST00000330079.7	+	2	751	c.558G>T	c.(556-558)acG>acT	p.T186T		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	184					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.T186T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		TCATCGGCACGCTGCTCTTCC	0.632													21	31					6.44725e-10	7.51774e-10	1	0	T	122079195	G	T	122079195	2	4	124	1	0	0	0	0	0	0	0	1	11328	1074	38	3		3	ORAI1	12	122079195	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	27284444	122079195	11772700	177	23990											
NCOR2	9612	broad.mit.edu	37	chr12	124915248	124915248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccttgctctccttggccCgccgccgggggttgttctcg	1	11	13	16	4	2	0	0	0	2	0	4	0	2	0	5	3	1	4	5	3	0	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:124915248C>T	ENST00000356219.3	-	10	1123	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	NCOR2_ENST00000397355.1_Missense_Mutation_p.R323Q|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000405201.1_Missense_Mutation_p.R323Q|NCOR2_ENST00000429285.2_Missense_Mutation_p.R323Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.R323Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	323					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCCTTGGCCCGCCGCCGGGG	0.642													23	171					0	0	0	0	T	124915248	C	T	124915248	3	4	124	1	0	0	0	0	1	0	0	0	10306	652	23	1	6756	1	NCOR2	12	124915248	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	2836053	124915248	8936647	178	23991											
TMEM132D	121256	broad.mit.edu	37	chr12	130185208	130185208	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcagcaaggaaaaccTctggatgctctcaaggatcc	11	7	13	10	0	2	0	1	0	2	0	4	3	3	3	2	5	3	3	2	5	4	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:130185208T>C	ENST00000422113.2	-	2	441	c.115A>G	c.(115-117)Agg>Ggg	p.R39G		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	39						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAGGAAAACCTCTGGATGCTC	0.542													17	40					0	0	0	0	C	130185208	T	C	130185208	3	2	124	1	0	0	0	0	1	0	0	0	16141	1550	54	5	3216	5	TMEM132D	12	130185208	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	5269960	130185208	3666687	179	23992											
CDK8	1024	broad.mit.edu	37	chr13	26959403	26959403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagcctttagcagatttGgatccagtggttgttacatt	9	16	10	6	0	0	2	0	1	0	1	1	3	1	3	2	2	3	3	2	2	3	7			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr13:26959403G>T	ENST00000381527.3	+	6	1073	c.570G>T	c.(568-570)ttG>ttT	p.L190F	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	190	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TAGCAGATTTGGATCCAGTGG	0.358													39	20					3.78316e-11	4.42801e-11	1	0	T	26959403	G	T	26959403	3	4	124	1	0	0	0	0	1	0	0	0	3179	1339	47	4	592	4	CDK8	13	26959403	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08		26959403	88210475	180	23993											
PCDH8	5100	broad.mit.edu	37	chr13	53419047	53419047	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcccaggatcttacacTcagcggtgcacgcccacagt	9	7	11	14	2	2	0	1	0	1	0	2	1	2	1	2	3	3	1	2	3	1	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr13:53419047T>A	ENST00000377942.3	-	3	3064	c.2861A>T	c.(2860-2862)gAg>gTg	p.E954V	PCDH8_ENST00000338862.4_Missense_Mutation_p.E857V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	954					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GATCTTACACTCAGCGGTGCA	0.537													55	28					0	0	0	0	A	53419047	T	A	53419047	3	1	124	1	0	0	0	0	1	0	0	0	11588	1551	54	5	355	5	PCDH8	13	53419047	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	26459644	53419047	61750831	181	23994											
ANKRD10	55608	broad.mit.edu	37	chr13	111532019	111532019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcatggtgcccagcaCggcactgtcgtaccgctcct	6	8	12	15	3	0	0	0	0	0	0	2	0	1	0	3	3	4	5	3	3	1	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr13:111532019C>T	ENST00000267339.2	-	6	1362	c.1228G>A	c.(1228-1230)Gtg>Atg	p.V410M	ANKRD10_ENST00000375758.5_3'UTR	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	410										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GTGCCCAGCACGGCACTGTCG	0.587													21	11					0	0	0	0	T	111532019	C	T	111532019	3	4	124	1	0	0	0	0	1	0	0	0	638	536	19	1	38	1	ANKRD10	13	111532019	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	58112972	111532019	3637859	182	23995											
OR4M1	441670	broad.mit.edu	37	chr14	20249049	20249049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgtccggattgcctgtGccaacaccttcccagaggag	8	9	12	12	1	0	1	0	0	0	1	2	3	2	3	5	3	3	1	5	3	1	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:20249049G>T	ENST00000315957.4	+	1	649	c.568G>T	c.(568-570)Gcc>Tcc	p.A190S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GATTGCCTGTGCCAACACCTT	0.468													63	292					1.79293e-35	2.56489e-35	1	0	T	20249049	G	T	20249049	3	4	124	1	0	0	0	0	1	0	0	0	11146	1319	46	4	570	4	OR4M1	14	20249049	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08		20249049	87100491	183	23996											
OR4K2	390431	broad.mit.edu	37	chr14	20344870	20344870	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctctcgtggtggcttcCtggattatgggagttatgca	5	15	14	7	1	1	0	0	0	1	0	3	2	2	2	1	4	2	5	1	4	2	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:20344870C>A	ENST00000298642.2	+	1	480	c.444C>A	c.(442-444)tcC>tcA	p.S148S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	148					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)		TGGTGGCTTCCTGGATTATGG	0.468													72	312					1.74474e-33	2.47305e-33	1	0	A	20344870	C	A	20344870	2	1	124	1	0	0	0	0	0	0	0	1	11143	668	24	4		4	OR4K2	14	20344870	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	95821	20344870	87004670	184	23997											
MYH6	4624	broad.mit.edu	37	chr14	23872602	23872602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaatctggtagaagatgtGgtagtttctctcagctttca	10	14	10	7	0	4	3	2	0	2	3	5	3	4	3	0	2	1	4	0	2	4	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:23872602G>T	ENST00000405093.3	-	10	923	c.853C>A	c.(853-855)Cac>Aac	p.H285N	MYH6_ENST00000356287.3_Missense_Mutation_p.H285N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	285	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TAGAAGATGTGGTAGTTTCTC	0.577													93	221					2.0191e-50	2.94293e-50	1	0	T	23872602	G	T	23872602	3	4	124	1	0	0	0	0	1	0	0	0	10108	1348	47	4	5086	4	MYH6	14	23872602	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	3527732	23872602	83476938	185	23998											
NIN	51199	broad.mit.edu	37	chr14	51202259	51202259	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagctgctcatccagttttActtgtttctttttcaggcct	5	19	7	10	0	3	1	2	1	1	0	4	1	4	1	2	1	3	4	2	1	1	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:51202259A>T	ENST00000245441.5	-	28	6042	c.5852T>A	c.(5851-5853)gTa>gAa	p.V1951E	NIN_ENST00000324330.9_Missense_Mutation_p.V1951E|NIN_ENST00000453196.1_Missense_Mutation_p.V1951E|NIN_ENST00000382043.4_Missense_Mutation_p.V1238E|NIN_ENST00000382041.3_Missense_Mutation_p.V1951E|NIN_ENST00000389868.3_Missense_Mutation_p.V1238E|NIN_ENST00000530997.2_Missense_Mutation_p.V1951E	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1951					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ATCCAGTTTTACTTGTTTCTT	0.353			T	PDGFRB	MPD								7	47					0	0	0	0	T	51202259	A	T	51202259	3	4	124	1	0	0	0	0	1	0	0	0	10487	391	14	5	713	5	NIN	14	51202259	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	27329657	51202259	56147281	186	23999											
SERPINA4	5267	broad.mit.edu	37	chr14	95034604	95034604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatccggcatcaccaaacaGcaaaaactggaggcatccaa	16	6	7	12	1	1	0	1	0	0	0	3	1	3	1	3	3	3	3	3	3	5	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:95034604G>T	ENST00000557004.1	+	4	1483	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H	SERPINA4_ENST00000298841.5_Missense_Mutation_p.Q354H|SERPINA4_ENST00000555095.1_Missense_Mutation_p.Q354H|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	354					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCACCAAACAGCAAAAACTGG	0.532													27	62					2.41591e-17	3.13662e-17	1	0	T	95034604	G	T	95034604	3	4	124	1	0	0	0	0	1	0	0	0	14178	962	34	4	1072	4	SERPINA4	14	95034604	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	43832345	95034604	12314936	187	24000											
ATP10A	57194	broad.mit.edu	37	chr15	25925343	25925343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagtaaggcttgcataGtccagtaagggttggacgga	11	8	13	9	1	0	0	0	0	0	0	1	2	1	2	2	4	1	5	2	4	3	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:25925343G>T	ENST00000356865.6	-	20	3902	c.3791C>A	c.(3790-3792)aCt>aAt	p.T1264N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1264					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGCTTGCATAGTCCAGTAAGG	0.532													56	59					1.11015e-26	1.53141e-26	1	0	T	25925343	G	T	25925343	3	4	124	1	0	0	0	0	1	0	0	0	1120	1029	36	4	716	4	ATP10A	15	25925343	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08		25925343	76606049	188	24001											
HERC2	8924	broad.mit.edu	37	chr15	28458989	28458989	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtcacagtgccttctcCaaactcatcgtgcataactt	10	11	7	13	2	3	0	2	0	1	0	5	1	3	0	2	0	4	1	2	0	2	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:28458989C>A	ENST00000261609.7	-	42	6793	c.6685G>T	c.(6685-6687)Gga>Tga	p.G2229*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2229					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGCCTTCTCCAAACTCATCG	0.572													26	26					1.2476e-16	1.59301e-16	1	0	A	28458989	C	A	28458989	4	1	124	1	0	0	0	0	0	1	0	0	7108	603	21	4	8027	4	HERC2	15	28458989	Nonsense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	2533646	28458989	74072403	189	24002											
RYR3	6263	broad.mit.edu	37	chr15	33944969	33944969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtggagacattgtagccaGttcccagagatcaaatcgga	12	8	13	8	1	1	2	1	0	0	2	3	5	2	3	2	3	1	2	2	3	2	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:33944969G>A	ENST00000389232.4	+	32	4263	c.4193G>A	c.(4192-4194)aGt>aAt	p.S1398N	RYR3_ENST00000415757.3_Missense_Mutation_p.S1398N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1398	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATTGTAGCCAGTTCCCAGAGA	0.532													4	45					0	0	0	0	A	33944969	G	A	33944969	3	1	124	1	0	0	0	0	1	0	0	0	13855	1029	36	4	4319	4	RYR3	15	33944969	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	5485980	33944969	68586423	190	24003											
PLA2G4E	123745	broad.mit.edu	37	chr15	42298268	42298268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagagaactgtcaggagatGgtcatctggtgtcactgtgt	10	12	13	6	0	4	2	3	0	1	2	4	4	4	2	0	3	1	0	0	3	2	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:42298268G>A	ENST00000399518.3	-	4	931	c.445C>T	c.(445-447)Cat>Tat	p.H149Y	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.H120Y	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	131					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GTCAGGAGATGGTCATCTGGT	0.522													28	34					0	0	0	0	A	42298268	G	A	42298268	3	1	124	1	0	0	0	0	1	0	0	0	12077	1348	47	4	2229	4	PLA2G4E	15	42298268	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	8353299	42298268	60233124	191	24004											
FBN1	2200	broad.mit.edu	37	chr15	48905287	48905287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacgtgatccacagacattgGgtctaaaacaaaaacagaag	19	6	8	8	1	1	3	0	1	1	2	2	3	2	3	1	1	3	0	1	1	6	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:48905287G>T	ENST00000316623.5	-	3	622	c.167C>A	c.(166-168)cCc>cAc	p.P56H		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	56					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGACATTGGGTCTAAAACA	0.348													32	40					7.11191e-15	8.7553e-15	1	0	T	48905287	G	T	48905287	3	4	124	1	0	0	0	0	1	0	0	0	5747	1232	43	4	8704	4	FBN1	15	48905287	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	6607019	48905287	53626105	192	24005											
CILP	8483	broad.mit.edu	37	chr15	65489281	65489281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctacacagttgaaggtgaGggctactcccacattgctct	9	11	9	12	0	2	2	0	2	2	0	3	2	3	2	1	2	3	3	1	2	3	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:65489281G>A	ENST00000261883.4	-	9	3509	c.3343C>T	c.(3343-3345)Ctc>Ttc	p.L1115F		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1115					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TTGAAGGTGAGGGCTACTCCC	0.607													23	20					0	0	0	0	A	65489281	G	A	65489281	3	1	124	1	0	0	0	0	1	0	0	0	3458	1000	35	4	215	4	CILP	15	65489281	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	16583994	65489281	37042111	193	24006											
IGDCC3	9543	broad.mit.edu	37	chr15	65623395	65623395	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaggcctcaccttcaccCagggtgctagctagggtggg	7	7	13	14	0	2	0	2	0	0	0	2	0	2	0	4	4	2	2	4	4	2	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:65623395C>A	ENST00000327987.4	-	9	1805	c.1554G>T	c.(1552-1554)ctG>ctT	p.L518L		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	518										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACCTTCACCCAGGGTGCTAG	0.587													10	81					2.17888e-05	2.32163e-05	1	0	A	65623395	C	A	65623395	2	1	124	1	0	0	0	0	0	0	0	1	7621	581	21	4		4	IGDCC3	15	65623395	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	134114	65623395	36907997	194	24007											
TMEM202	338949	broad.mit.edu	37	chr15	72699075	72699075	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggatctgaaggtatccaTgctcagcttcatctcaggta	9	13	9	10	0	4	1	3	1	2	0	6	2	5	2	1	3	2	4	1	3	3	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:72699075T>G	ENST00000341689.3	+	3	524	c.470T>G	c.(469-471)aTg>aGg	p.M157R	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	157						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						AAGGTATCCATGCTCAGCTTC	0.438													25	60					0	0	0	0	G	72699075	T	G	72699075	3	3	124	1	0	0	0	0	1	0	0	0	16221	1464	51	5	480	5	TMEM202	15	72699075	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	7075680	72699075	29832317	195	24008											
CHRNA3	1136	broad.mit.edu	37	chr15	78893755	78893755	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactgaaattggagatttttAtcctgcggtggtggcagtaa	10	13	12	6	1	0	2	0	1	0	1	1	3	1	2	1	4	1	2	1	4	3	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:78893755A>T	ENST00000326828.5	-	5	1613	c.1229T>A	c.(1228-1230)aTa>aAa	p.I410K	CHRNA3_ENST00000348639.3_Missense_Mutation_p.I410K	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	410					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGAGATTTTTATCCTGCGGTG	0.502													93	65					0	0	0	0	T	78893755	A	T	78893755	3	4	124	1	0	0	0	0	1	0	0	0	3413	449	16	5	381	5	CHRNA3	15	78893755	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	6194680	78893755	23637637	196	24009											
C16orf11	146325	broad.mit.edu	37	chr16	613930	613930	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctctgctgggcgtcaaCtacccgctcagccccggcct	4	9	10	18	3	3	0	2	0	1	0	4	0	3	0	4	2	4	2	4	2	2	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr16:613930C>G	ENST00000409413.3	+	2	915	c.636C>G	c.(634-636)aaC>aaG	p.N212K		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	212	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						TGGGCGTCAACTACCCGCTCA	0.716													3	8					0	0	0	0	G	613930	C	G	613930	3	3	124	1	0	0	0	0	1	0	0	0	1823	564	20	4	638	4	C16orf11	16	613930	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08		613930	89740823	197	24010											
ITGAL	3683	broad.mit.edu	37	chr16	30528315	30528315	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatccagccttccatcCacgaccacaacatacccacc	12	6	5	18	1	0	1	0	1	0	0	3	3	3	2	7	1	3	0	7	1	2	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr16:30528315C>A	ENST00000356798.6	+	26	3064	c.2884C>A	c.(2884-2886)Cac>Aac	p.H962N	ITGAL_ENST00000433423.2_Missense_Mutation_p.H196N|ITGAL_ENST00000358164.5_Missense_Mutation_p.H878N	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	962					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCCTTCCATCCACGACCACAA	0.642													47	390					1.05386e-31	1.48019e-31	1	0	A	30528315	C	A	30528315	3	1	124	1	0	0	0	0	1	0	0	0	7939	594	21	4	2986	4	ITGAL	16	30528315	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	29914385	30528315	59826438	198	24011											
TP53	7157	broad.mit.edu	37	chr17	7577097	7577097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcctctgtgcgccggtCtctcccaggacaggcacaaa	7	9	9	16	2	3	0	0	0	3	0	6	1	5	1	3	3	1	1	3	3	1	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:7577097C>A	ENST00000420246.2	-	8	973	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	TP53_ENST00000445888.2_Missense_Mutation_p.D281Y|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y|TP53_ENST00000455263.2_Missense_Mutation_p.D281Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.D281Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGCGCCGGTCTCTCCCAGGA	0.547		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	14					4.63292e-17	5.98985e-17	1	0	A	7577097	C	A	7577097	3	1	124	1	0	0	0	0	1	0	0	0	16476	913	32	2	445	2	TP53	17	7577097	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08		7577097	73618113	199	24012											
KRBA2	124751	broad.mit.edu	37	chr17	8273201	8273201	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaggcctctcttgggtaCtgggttcttctggtggcact	4	14	13	10	0	3	0	0	0	3	0	4	0	3	0	1	5	2	4	1	5	2	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:8273201C>A	ENST00000396267.1	-	2	1315	c.484G>T	c.(484-486)Gta>Tta	p.V162L	RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000331336.2_Missense_Mutation_p.V244L|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	244					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CTCTTGGGTACTGGGTTCTTC	0.458													45	87					1.23713e-20	1.62669e-20	1	0	A	8273201	C	A	8273201	3	1	124	1	0	0	0	0	1	0	0	0	8492	565	20	4	752	4	KRBA2	17	8273201	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	696104	8273201	72922009	200	24013											
MYH13	8735	broad.mit.edu	37	chr17	10206726	10206726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacctggtaagtcatctcCttgactttgcgttcgtactt	6	16	7	12	2	2	1	1	1	1	0	4	1	2	1	3	1	3	3	3	1	3	7			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:10206726C>A	ENST00000418404.3	-	37	5719	c.5556G>T	c.(5554-5556)aaG>aaT	p.K1852N	MYH13_ENST00000252172.4_Missense_Mutation_p.K1852N|MYH13_ENST00000570743.1_Missense_Mutation_p.K1852N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1852					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K1852N(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAGTCATCTCCTTGACTTTGC	0.542													56	131					4.88506e-25	6.59162e-25	1	0	A	10206726	C	A	10206726	3	1	124	1	0	0	0	0	1	0	0	0	10102	680	24	4	276	4	MYH13	17	10206726	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	1933525	10206726	70988484	201	24014											
MYH1	4619	broad.mit.edu	37	chr17	10400464	10400464	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttttccagttcatggatGcgctttcctccttctgcaat	6	18	6	11	1	2	0	1	0	1	0	5	1	5	1	3	1	2	3	3	1	1	6	rs61730796		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:10400464G>C	ENST00000226207.5	-	33	4672	c.4578C>G	c.(4576-4578)cgC>cgG	p.R1526R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1526						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1526R(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTCATGGATGCGCTTTCCTC	0.378													6	45					0	0	0	0	C	10400464	G	C	10400464	2	2	124	1	0	0	0	0	0	0	0	1	10099	1306	46	4		4	MYH1	17	10400464	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	193738	10400464	70794746	202	24015											
MYH2	4620	broad.mit.edu	37	chr17	10443311	10443311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattttaggttcccataatGcatcacagcccccgtgagct	11	11	7	12	1	1	1	1	1	0	0	2	1	2	1	3	1	3	3	3	1	3	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:10443311G>T	ENST00000245503.5	-	12	1465	c.1081C>A	c.(1081-1083)Cat>Aat	p.H361N	MYH2_ENST00000397183.2_Missense_Mutation_p.H361N|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.H361N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	361	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCCCATAATGCATCACAGCC	0.413													55	146					1.39843e-22	1.87063e-22	1	0	T	10443311	G	T	10443311	3	4	124	1	0	0	0	0	1	0	0	0	10105	1319	46	4	4860	4	MYH2	17	10443311	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	42847	10443311	70751899	203	24016											
SLC47A1	55244	broad.mit.edu	37	chr17	19445705	19445705	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgttcccctctcttcccaGttcttggttcagctgatggt	3	15	8	15	1	3	1	1	1	2	0	6	1	5	1	4	2	1	4	4	2	0	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:19445705G>A	ENST00000270570.4	+	2	221		c.e2-1		SLC47A1_ENST00000542886.1_Splice_Site|SLC47A1_ENST00000457293.1_Splice_Site|SLC47A1_ENST00000436810.2_Splice_Site|SLC47A1_ENST00000395585.1_Splice_Site|SLC47A1_ENST00000575023.1_Splice_Site|SLC47A1_ENST00000584348.1_Splice_Site|SLC47A1_ENST00000571335.1_Splice_Site	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1							integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TCTCTTCCCAGTTCTTGGTTC	0.577													28	50					0	0	0	0	A	19445705	G	A	19445705	5	1	124	1	0	0	0	0	0	0	1	0	14735	1043	36	4	141	4	SLC47A1	17	19445705	Splice_Site	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	9002394	19445705	61749505	204	24017											
GSDMB	55876	broad.mit.edu	37	chr17	38073423	38073423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcctgttgtgtagtgccgGcatccaaagaaagttctctt	9	12	11	9	1	1	1	0	0	1	1	3	1	2	1	3	2	1	4	3	2	3	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:38073423G>A	ENST00000394175.2	-	1	370	c.147C>T	c.(145-147)tgC>tgT	p.C49C	GSDMB_ENST00000520542.1_Silent_p.C49C|GSDMB_ENST00000394179.1_Silent_p.C49C|GSDMB_ENST00000418519.1_Silent_p.C49C|GSDMB_ENST00000360317.3_Silent_p.C49C|GSDMB_ENST00000309481.7_Silent_p.C49C	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	49						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TGTAGTGCCGGCATCCAAAGA	0.507													4	187					0	0	0	0	A	38073423	G	A	38073423	2	1	124	1	0	0	0	0	0	0	0	1	6867	1195	42	4		4	GSDMB	17	38073423	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	18627718	38073423	43121787	205	24018											
GIP	2695	broad.mit.edu	37	chr17	47041686	47041686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcactcattcttcttcccCttttgggccagcagccagtt	6	14	6	15	0	4	0	2	0	2	0	5	0	5	0	4	1	2	2	4	1	0	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:47041686C>A	ENST00000357424.2	-	3	343	c.243G>T	c.(241-243)aaG>aaT	p.K81N		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	81					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						TCTTCTTCCCCTTTTGGGCCA	0.557													45	119					2.56175e-15	3.20478e-15	1	0	A	47041686	C	A	47041686	3	1	124	1	0	0	0	0	1	0	0	0	6442	680	24	4	234	4	GIP	17	47041686	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	8968263	47041686	34153524	206	24019											
ITGA3	3675	broad.mit.edu	37	chr17	48145651	48145651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtacttcggcgcccccGgtgcctacaactggaaaggt	7	9	12	13	3	0	0	0	0	0	0	1	1	0	1	3	4	4	1	3	4	4	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:48145651G>A	ENST00000320031.8	+	4	976	c.646G>A	c.(646-648)Ggt>Agt	p.G216S	ITGA3_ENST00000007722.7_Missense_Mutation_p.G216S|ITGA3_ENST00000544892.1_Intron	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	216					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CGGCGCCCCCGGTGCCTACAA	0.612													4	100					0	0	0	0	A	48145651	G	A	48145651	3	1	124	1	0	0	0	0	1	0	0	0	7930	1116	39	1	660	1	ITGA3	17	48145651	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	1103965	48145651	33049559	207	24020											
EPN3	55040	broad.mit.edu	37	chr17	48618684	48618684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctctgggaagcccagCagccctgtgggtgagcaggg	6	6	16	13	0	1	1	0	1	1	0	1	2	1	2	3	3	5	2	3	3	1	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:48618684C>T	ENST00000268933.3	+	8	1923	c.1344C>T	c.(1342-1344)agC>agT	p.S448S	EPN3_ENST00000537145.1_Silent_p.S476S|EPN3_ENST00000541226.1_3'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	448						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GGAAGCCCAGCAGCCCTGTGG	0.652													68	210					0	0	0	0	T	48618684	C	T	48618684	2	4	124	1	0	0	0	0	0	0	0	1	5225	709	25	4		4	EPN3	17	48618684	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	473033	48618684	32576526	208	24021											
COIL	8161	broad.mit.edu	37	chr17	55038183	55038183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgctctcggcggggggCaagagccccccctccaggta	5	4	15	17	5	1	1	0	0	1	1	3	1	2	1	4	5	1	3	4	5	2	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:55038183C>G	ENST00000240316.4	-	1	232	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	66						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGGCGGGGGGCAAGAGCCCCC	0.697													9	8					0	0	0	0	G	55038183	C	G	55038183	3	3	124	1	0	0	0	0	1	0	0	0	3695	709	25	4	1560	4	COIL	17	55038183	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	6419499	55038183	26157027	209	24022											
BZRAP1	9256	broad.mit.edu	37	chr17	56399671	56399671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcactgccgccccacctGctgcagtctccggacctcct	4	8	7	22	2	2	0	1	0	1	0	4	1	3	1	8	1	3	2	8	1	0	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:56399671G>T	ENST00000355701.3	-	10	2290	c.1420C>A	c.(1420-1422)Cag>Aag	p.Q474K	BZRAP1_ENST00000268893.6_Missense_Mutation_p.Q414K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.Q474K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	474						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGCCCCACCTGCTGCAGTCTC	0.642													27	119					2.12542e-12	2.52597e-12	1	0	T	56399671	G	T	56399671	3	4	124	1	0	0	0	0	1	0	0	0	1586	1328	46	4	4241	4	BZRAP1	17	56399671	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	1361488	56399671	24795539	210	24023											
YPEL2	388403	broad.mit.edu	37	chr17	57466719	57466719	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttcttgtgcctcgacatAgagttaatgtgggctgtggg	6	14	13	8	1	2	1	0	0	2	1	3	2	2	1	1	2	1	2	1	2	2	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:57466719A>G	ENST00000312655.4	+	4	479		c.e4-1		YPEL2_ENST00000581865.1_Splice_Site|YPEL2_ENST00000585166.1_Splice_Site	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)							nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GCCTCGACATAGAGTTAATGT	0.493													15	43					0	0	0	0	G	57466719	A	G	57466719	5	3	124	1	0	0	0	0	0	0	1	0	17586	434	15	5	170	5	YPEL2	17	57466719	Splice_Site	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	1067048	57466719	23728491	211	24024											
PSMC5	5705	broad.mit.edu	37	chr17	61907804	61907804	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggagatcaaagaagtgatCgagctgcctgttaagcatcc	14	8	11	8	1	1	3	1	1	0	2	3	5	2	3	2	1	3	3	2	1	4	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:61907804C>T	ENST00000310144.6	+	6	803	c.495C>T	c.(493-495)atC>atT	p.I165I	PSMC5_ENST00000580864.1_Silent_p.I157I|PSMC5_ENST00000375812.4_Silent_p.I157I|PSMC5_ENST00000581882.1_Silent_p.I157I	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	165					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						AAGAAGTGATCGAGCTGCCTG	0.488													27	101					0	0	0	0	T	61907804	C	T	61907804	2	4	124	1	0	0	0	0	0	0	0	1	12769	874	31	1		1	PSMC5	17	61907804	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	4441085	61907804	19287406	212	24025											
ABCA8	10351	broad.mit.edu	37	chr17	66899501	66899501	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcgaacccttgcaattgcGcagatttgctgtcgccagag	10	9	11	11	3	0	2	0	0	0	2	1	3	0	2	2	0	5	3	2	0	3	3	rs75339580	by1000genomes	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:66899501G>C	ENST00000269080.2	-	18	2555	c.2418C>G	c.(2416-2418)tgC>tgG	p.C806W	ABCA8_ENST00000430352.2_Missense_Mutation_p.C846W|ABCA8_ENST00000586539.1_Missense_Mutation_p.C846W	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	806						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGCAATTGCGCAGATTTGCT	0.408													45	146					0	0	0	0	C	66899501	G	C	66899501	3	2	124	1	0	0	0	0	1	0	0	0	38	1079	38	3	2411	3	ABCA8	17	66899501	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	4991697	66899501	14295709	213	24026											
CD300C	10871	broad.mit.edu	37	chr17	72541049	72541050	+	Frame_Shift_Ins	INS	-	-	C																															tcagggatccccccacggggINScccgccacggtcatggggtg																										TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:72541049_72541050insC	ENST00000330793.1	-	2	458_459	c.98_99insG	c.(97-99)gccfs	p.A33fs		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	33	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCCCCACGGGGCCCGCCACGGT	0.564													7	191	---	---	---	---					C	72541050	-	C	72541049	7	5	124	1	0	1	1	0	0	0	0	0	3026	1190	42	0	587	0	CD300C	17	72541049	Frame_Shift_Ins	INS	-	TCGA-CN-A641-01A-11D-A30E-08	5641548	72541049	8654161	214	24027											
SLC38A10	124565	broad.mit.edu	37	chr17	79225335	79225335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttccacccgctcgctccaCgtccctctgctcgcgaggct	3	10	9	19	5	1	0	0	0	1	0	6	1	4	0	4	1	1	5	4	1	0	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:79225335C>T	ENST00000374759.3	-	14	2406	c.2023G>A	c.(2023-2025)Gtg>Atg	p.V675M	SLC38A10_ENST00000288439.5_Missense_Mutation_p.V675M	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	675					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTCGCTCCACGTCCCTCTGC	0.726													8	7					0	0	0	0	T	79225335	C	T	79225335	3	4	124	1	0	0	0	0	1	0	0	0	14690	536	19	1	1626	1	SLC38A10	17	79225335	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	6684286	79225335	1969875	215	24028											
EPB41L3	23136	broad.mit.edu	37	chr18	5397159	5397159	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgtctcttcctgttccagGacagctttagcgacctcctc	5	13	8	15	1	1	0	0	0	1	0	6	2	4	1	4	1	2	3	4	1	1	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:5397159G>T	ENST00000341928.2	-	18	3079	c.2739C>A	c.(2737-2739)gtC>gtA	p.V913V	EPB41L3_ENST00000400111.3_Silent_p.V691V|EPB41L3_ENST00000342933.3_Silent_p.V913V|EPB41L3_ENST00000427684.2_Silent_p.V210V|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.V744V|EPB41L3_ENST00000542146.1_Silent_p.V218V|EPB41L3_ENST00000540638.2_Silent_p.V691V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	913	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCTGTTCCAGGACAGCTTTAG	0.542													40	139					7.63091e-17	9.78403e-17	1	0	T	5397159	G	T	5397159	2	4	124	1	0	0	0	0	0	0	0	1	5192	1161	41	2		2	EPB41L3	18	5397159	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08		5397159	72680089	216	24029											
RALBP1	10928	broad.mit.edu	37	chr18	9513224	9513224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgagcctcctgatgtaGtgtctgatgatgagaaagat	11	12	11	7	0	1	6	0	5	1	2	3	7	3	6	3	0	1	1	3	0	2	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:9513224G>A	ENST00000019317.4	+	2	404	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	RALBP1_ENST00000383432.3_Missense_Mutation_p.V61M			Q15311	RBP1_HUMAN	ralA binding protein 1	61					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						TCCTGATGTAGTGTCTGATGA	0.443													49	36					0	0	0	0	A	9513224	G	A	9513224	3	1	124	1	0	0	0	0	1	0	0	0	13094	1029	36	4	183	4	RALBP1	18	9513224	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	4116065	9513224	68564024	217	24030											
ZNF521	25925	broad.mit.edu	37	chr18	22805054	22805054	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatatgttcccggaggccaTtttcggagaagaaggttcga	10	10	13	8	3	0	2	0	0	0	2	3	5	1	3	2	4	0	3	2	4	3	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:22805054T>G	ENST00000361524.3	-	4	2976	c.2828A>C	c.(2827-2829)aAt>aCt	p.N943T	ZNF521_ENST00000538137.2_Missense_Mutation_p.N943T|ZNF521_ENST00000584787.1_Missense_Mutation_p.N723T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	943					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCGGAGGCCATTTTCGGAGAA	0.478			T	PAX5	ALL								47	124					0	0	0	0	G	22805054	T	G	22805054	3	3	124	1	0	0	0	0	1	0	0	0	18060	1493	52	5	1127	5	ZNF521	18	22805054	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08	13291830	22805054	55272194	218	24031											
ST8SIA3	51046	broad.mit.edu	37	chr18	55024592	55024592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatccctgcatttttcttcCacacttcagcaactgtgacc	8	13	6	14	0	2	1	1	1	1	0	4	2	4	2	3	1	3	2	3	1	1	4			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:55024592C>T	ENST00000324000.3	+	3	2785	c.751C>T	c.(751-753)Cac>Tac	p.H251Y		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	251					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ATTTTTCTTCCACACTTCAGC	0.403													32	32					0	0	0	0	T	55024592	C	T	55024592	3	4	124	1	0	0	0	0	1	0	0	0	15323	594	21	4	761	4	ST8SIA3	18	55024592	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	32219538	55024592	23052656	219	24032											
ZNF236	7776	broad.mit.edu	37	chr18	74624207	74624207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttaaattttagacaactcGcttgattcaggagtcatccc	11	14	6	10	1	3	2	2	1	1	1	5	3	4	3	1	1	1	1	1	1	4	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:74624207G>T	ENST00000253159.8	+	17	3005	c.2807G>T	c.(2806-2808)cGc>cTc	p.R936L	ZNF236_ENST00000320610.9_Missense_Mutation_p.R938L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	936					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TAGACAACTCGCTTGATTCAG	0.423													12	16					5.50884e-06	5.89007e-06	1	0	T	74624207	G	T	74624207	3	4	124	1	0	0	0	0	1	0	0	0	17884	1087	38	3	2873	3	ZNF236	18	74624207	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	19599615	74624207	3453041	220	24033											
KDM4B	23030	broad.mit.edu	37	chr19	5137683	5137683	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgctgcagatgaccaccgatAggaggtgggtggcaccgcgc	8	5	16	12	4	0	2	0	1	0	1	0	4	0	3	3	4	1	3	3	4	1	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:5137683A>G	ENST00000159111.4	+	17	2655	c.2437A>G	c.(2437-2439)Agg>Ggg	p.R813G	KDM4B_ENST00000536461.1_Missense_Mutation_p.R847G	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	813					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GACCACCGATAGGAGGTGGGT	0.687													5	7					0	0	0	0	G	5137683	A	G	5137683	3	3	124	1	0	0	0	0	1	0	0	0	8182	411	15	5	2495	5	KDM4B	19	5137683	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08		5137683	53991300	221	24034											
ICAM5	7087	broad.mit.edu	37	chr19	10404974	10404974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacggctccgtggccaaaaCagtcgtcgtgagcgcggagt	8	6	14	13	6	0	1	0	1	0	0	3	2	1	2	3	3	2	1	3	3	2	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:10404974C>T	ENST00000221980.4	+	8	2033	c.1970C>T	c.(1969-1971)aCa>aTa	p.T657I		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	657	Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GTGGCCAAAACAGTCGTCGTG	0.662													83	857					0	0	0	0	T	10404974	C	T	10404974	3	4	124	1	0	0	0	0	1	0	0	0	7536	478	17	4	2000	4	ICAM5	19	10404974	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	5267291	10404974	48724009	222	24035											
FDX1L	112812	broad.mit.edu	37	chr19	10426109	10426109	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggtgaagaacattgtccCcgactctgccactcactggg	9	8	10	14	1	2	2	1	1	1	1	3	3	3	2	4	2	2	0	4	2	2	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:10426109C>A	ENST00000541276.1	-	3	272	c.269G>T	c.(268-270)gGg>gTg	p.G90V	FDX1L_ENST00000393708.3_Missense_Mutation_p.G87V|FDX1L_ENST00000492239.1_5'UTR|FDX1L_ENST00000494368.1_5'UTR|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.G87V			Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	87	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			AACATTGTCCCCGACTCTGCC	0.567													18	98					8.10497e-08	9.17376e-08	1	0	A	10426109	C	A	10426109	3	1	124	1	0	0	0	0	1	0	0	0	5850	623	22	4	303	4	FDX1L	19	10426109	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	21135	10426109	48702874	223	24036											
BEST2	54831	broad.mit.edu	37	chr19	12864107	12864107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaagggcagaagcgctacttCgagaagcttgtgatttattg	11	11	13	6	2	0	3	0	1	0	2	1	5	0	3	0	1	3	3	0	1	5	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:12864107C>G	ENST00000549706.1	+	3	510	c.186C>G	c.(184-186)ttC>ttG	p.F62L	BEST2_ENST00000553030.1_Missense_Mutation_p.F62L|BEST2_ENST00000042931.1_Missense_Mutation_p.F62L			Q8NFU1	BEST2_HUMAN	bestrophin 2	62					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						AGCGCTACTTCGAGAAGCTTG	0.557													137	62					0	0	0	0	G	12864107	C	G	12864107	3	3	124	1	0	0	0	0	1	0	0	0	1409	883	31	3	192	3	BEST2	19	12864107	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	2437998	12864107	46264876	224	24037											
CCNE1	898	broad.mit.edu	37	chr19	30314571	30314571	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccaacaggacaaagccCgagcaaagaaagccatgttg	16	5	9	11	1	0	1	0	0	0	1	0	3	0	2	3	1	5	2	3	1	5	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:30314571C>T	ENST00000262643.3	+	12	1399	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	CCNE1_ENST00000444983.2_Nonsense_Mutation_p.R359*|CCNE1_ENST00000357943.5_Nonsense_Mutation_p.R331*	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	374					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			GGACAAAGCCCGAGCAAAGAA	0.458			A		serous ovarian								4	194					0	0	0	0	T	30314571	C	T	30314571	4	4	124	1	0	0	0	0	0	1	0	0	2949	644	23	1	1162	1	CCNE1	19	30314571	Nonsense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	17450464	30314571	28814412	225	24038											
ZNF567	163081	broad.mit.edu	37	chr19	37210374	37210375	+	Frame_Shift_Ins	INS	-	-	A																															aagaagagcaaccaatattgINSaaaaaaaacatacatgcaat																										TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:37210374_37210375insA	ENST00000585696.1	+	3	1885_1886	c.655_656insA	c.(655-657)aaafs	p.K219fs	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Frame_Shift_Ins_p.K219fs|ZNF567_ENST00000588311.1_Frame_Shift_Ins_p.K219fs|ZNF567_ENST00000536254.2_Frame_Shift_Ins_p.K250fs|ZNF567_ENST00000360729.4_Frame_Shift_Ins_p.K219fs			Q8N184	ZN567_HUMAN	zinc finger protein 567	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACCAATATTGAAAAAAAACAT	0.351													8	12	---	---	---	---					A	37210375	-	A	37210374	7	5	124	1	0	1	1	0	0	0	0	0	18093	1291	45	0	665	0	ZNF567	19	37210374	Frame_Shift_Ins	INS	-	TCGA-CN-A641-01A-11D-A30E-08	6895803	37210374	21918609	226	24039											
LILRA3	11026	broad.mit.edu	37	chr19	54803700	54803700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagggtcacaggactccCttgggtgatcacagagcctg	8	8	13	12	0	2	3	2	2	0	1	3	4	3	4	3	3	1	0	3	3	0	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:54803700C>A	ENST00000391745.1	-	7	491	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	LILRA3_ENST00000391744.3_Missense_Mutation_p.G42W|LILRA3_ENST00000251390.3_Missense_Mutation_p.G42W					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGGACTCCCTTGGGTGATC	0.542													80	48					1.91593e-42	2.75359e-42	1	0	A	54803700	C	A	54803700	3	1	124	1	0	0	0	0	1	0	0	0	8840	681	24	4	1215	4	LILRA3	19	54803700	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	17593326	54803700	4325283	227	24040											
EPS8L1	54869	broad.mit.edu	37	chr19	55593652	55593652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacgccccaggcccggctgCgcggcaacatcgccgacccc	6	2	11	22	6	0	0	0	0	0	0	1	1	0	0	7	3	2	2	7	3	1	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:55593652C>T	ENST00000201647.6	+	11	1056	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	EPS8L1_ENST00000245618.5_Missense_Mutation_p.R207C|EPS8L1_ENST00000586329.1_Missense_Mutation_p.R316C|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Missense_Mutation_p.R270C|EPS8L1_ENST00000588359.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	334						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGCCCGGCTGCGCGGCAACAT	0.746													3	15					0	0	0	0	T	55593652	C	T	55593652	3	4	124	1	0	0	0	0	1	0	0	0	5233	768	27	1	1090	1	EPS8L1	19	55593652	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	789952	55593652	3535331	228	24041											
ZNF71	58491	broad.mit.edu	37	chr19	57133098	57133098	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcgtccctgataaagcAccaaaggatccacacgggag	14	5	10	12	2	0	1	0	1	0	0	3	3	2	3	3	2	2	2	3	2	4	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:57133098A>T	ENST00000328070.6	+	3	677	c.443A>T	c.(442-444)cAc>cTc	p.H148L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	148						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTGATAAAGCACCAAAGGATC	0.577													47	31					0	0	0	0	T	57133098	A	T	57133098	3	4	124	1	0	0	0	0	1	0	0	0	18209	159	6	5	445	5	ZNF71	19	57133098	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	1539446	57133098	1995885	229	24042											
ZNF551	90233	broad.mit.edu	37	chr19	58197936	58197936	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctaagggcaatacacccaCccagaaaactcacctcagtg	14	7	6	14	0	3	1	2	0	1	1	3	1	3	1	3	1	2	1	3	1	5	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:58197936C>A	ENST00000282296.5	+	3	478	c.293C>A	c.(292-294)aCc>aAc	p.T98N	AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.T82N|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000599402.1_3'UTR	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	98	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AATACACCCACCCAGAAAACT	0.473													6	204					0.00448238	0.00460151	1	0	A	58197936	C	A	58197936	3	1	124	1	0	0	0	0	1	0	0	0	18078	507	18	4	255	4	ZNF551	19	58197936	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	1064838	58197936	931047	230	24043											
DSTN	11034	broad.mit.edu	37	chr20	17581473	17581473	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccagaagaaatcaagaaaAgaaagaaggctgtcattttt	19	8	8	6	0	2	5	2	0	0	5	2	5	2	5	1	1	0	1	1	1	7	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:17581473A>C	ENST00000246069.6	+	2	440	c.94A>C	c.(94-96)Aga>Cga	p.R32R	DSTN_ENST00000543261.1_Silent_p.R15R|DSTN_ENST00000474024.1_3'UTR	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	32	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AATCAAGAAAAGAAAGAAGGC	0.398													28	69					0	0	0	0	C	17581473	A	C	17581473	2	2	124	1	0	0	0	0	0	0	0	1	4820	64	3	5		5	DSTN	20	17581473	Silent	SNP	A	TCGA-CN-A641-01A-11D-A30E-08		17581473	45444047	231	24044											
SLC35C2	51006	broad.mit.edu	37	chr20	44979515	44979515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagatgagctgccaacagCaaagtgcagacttcctgggg	12	6	13	10	0	0	3	0	1	0	2	1	3	1	3	2	2	6	4	2	2	2	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:44979515C>A	ENST00000372227.1	-	9	1392	c.852G>T	c.(850-852)ttG>ttT	p.L284F	SLC35C2_ENST00000372230.5_Missense_Mutation_p.L284F|SLC35C2_ENST00000372229.1_Missense_Mutation_p.L151F|SLC35C2_ENST00000317734.8_Missense_Mutation_p.L263F|SLC35C2_ENST00000243896.2_Missense_Mutation_p.L284F|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000543605.1_Missense_Mutation_p.L313F			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	284					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CTGCCAACAGCAAAGTGCAGA	0.587													21	51					0.000295444	0.000307381	1	0	A	44979515	C	A	44979515	3	1	124	1	0	0	0	0	1	0	0	0	14668	709	25	4	253	4	SLC35C2	20	44979515	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	27398042	44979515	18046005	232	24045											
SLC13A3	64849	broad.mit.edu	37	chr20	45239229	45239229	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacaagaacgaggtggtcaCcatcatccccaggatgagcc	12	5	12	12	1	2	2	2	1	0	1	3	5	3	4	4	4	2	0	4	4	2	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:45239229C>T	ENST00000435032.1	-	0	434				SLC13A3_ENST00000279027.4_Missense_Mutation_p.V133M|SLC13A3_ENST00000396360.1_Missense_Mutation_p.V86M|SLC13A3_ENST00000417157.2_Missense_Mutation_p.V86M|SLC13A3_ENST00000372121.1_Missense_Mutation_p.V133M|SLC13A3_ENST00000290317.5_Missense_Mutation_p.V86M|SLC13A3_ENST00000495082.1_Missense_Mutation_p.V86M|SLC13A3_ENST00000413164.2_Missense_Mutation_p.V133M|SLC13A3_ENST00000339636.3_Missense_Mutation_p.V133M|SLC13A3_ENST00000472148.1_Missense_Mutation_p.V86M			Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3							integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GAGGTGGTCACCATCATCCCC	0.557													43	88					0	0	0	0	T	45239229	C	T	45239229	1	4	124	1	0	0	0	0	0	0	0	0	14481	507	18	4		4	SLC13A3	20	45239229	Translation_Start_Site	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	259714	45239229	17786291	233	24046											
ZBP1	81030	broad.mit.edu	37	chr20	56189946	56189946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagccgggggcctacctgGgcggtaaatcgtccatgctt	6	8	15	12	3	0	0	0	0	0	0	2	0	1	0	4	5	3	3	4	5	3	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:56189946G>A	ENST00000340462.4	-	3	710	c.430C>T	c.(430-432)Cca>Tca	p.P144S	ZBP1_ENST00000541799.1_Missense_Mutation_p.P167S|ZBP1_ENST00000343535.4_Missense_Mutation_p.P167S|ZBP1_ENST00000395822.3_Missense_Mutation_p.P92S|ZBP1_ENST00000371173.3_Missense_Mutation_p.P167S			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	167						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGCCTACCTGGGCGGTAAATC	0.552													39	77					0	0	0	0	A	56189946	G	A	56189946	3	1	124	1	0	0	0	0	1	0	0	0	17616	1232	43	4	887	4	ZBP1	20	56189946	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	10950717	56189946	6835574	234	24047											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343													3	73					0	0	0	0	C	11058353	T	C	11058353	1	2	124	0	1	0	0	0	0	0	0	0	1296	1769	61	5		5	BAGE2	21	11058353	RNA	SNP	T	TCGA-CN-A641-01A-11D-A30E-08		11058353	37071542	235	24048											
TRPM2	7226	broad.mit.edu	37	chr21	45843586	45843586	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagaggtcgggctccatgGagcagaggttggcctccctg	7	8	16	10	1	0	3	0	1	0	2	3	4	2	4	3	5	1	3	3	5	1	1			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr21:45843586G>T	ENST00000397928.1	+	23	3965	c.3520G>T	c.(3520-3522)Gag>Tag	p.E1174*	TRPM2_ENST00000300481.9_Nonsense_Mutation_p.E1154*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.E1174*|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.E1224*	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1174						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGCTCCATGGAGCAGAGGTT	0.657													12	19					0.0135373	0.0138054	1	0	T	45843586	G	T	45843586	4	4	124	1	0	0	0	0	0	1	0	0	16681	1175	41	2	3610	2	TRPM2	21	45843586	Nonsense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	34785233	45843586	2286309	236	24049											
MCM3AP	8888	broad.mit.edu	37	chr21	47700472	47700472	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacttttccccttctttctAgccagggctgcagatgcctg	7	13	8	13	0	2	1	0	0	2	1	3	1	3	1	4	1	4	2	4	1	2	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr21:47700472A>G	ENST00000397708.1	-	4	1715	c.1461T>C	c.(1459-1461)gcT>gcC	p.A487A	MCM3AP_ENST00000291688.1_Silent_p.A487A			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	487					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCTTCTTTCTAGCCAGGGCTG	0.378													25	44					0	0	0	0	G	47700472	A	G	47700472	2	3	124	1	0	0	0	0	0	0	0	1	9457	407	15	5		5	MCM3AP	21	47700472	Silent	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	1856886	47700472	429423	237	24050											
MORC2	22880	broad.mit.edu	37	chr22	31324138	31324138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccgggagtcagcacggctCtggtaggaattgcacaggtt	8	8	15	10	2	2	0	1	0	1	0	2	2	2	2	1	5	2	5	1	5	2	3			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr22:31324138C>G	ENST00000215862.4	-	26	4075	c.2712G>C	c.(2710-2712)caG>caC	p.Q904H	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000397641.2_Missense_Mutation_p.Q966H	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	966							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CAGCACGGCTCTGGTAGGAAT	0.572													16	50					0	0	0	0	G	31324138	C	G	31324138	3	3	124	1	0	0	0	0	1	0	0	0	9772	912	32	2	208	2	MORC2	22	31324138	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08		31324138	19980428	238	24051											
RBX1	9978	broad.mit.edu	37	chr22	41349589	41349589	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagccctctgggcctgggatAttgtggttgataactgtgcc	6	13	13	9	0	1	1	0	1	1	0	1	2	1	2	3	3	3	1	3	3	3	5			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr22:41349589A>G	ENST00000216225.8	+	2	149	c.109A>G	c.(109-111)Att>Gtt	p.I37V	XPNPEP3_ENST00000544094.1_3'UTR	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	37					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						GGCCTGGGATATTGTGGTTGA	0.463													42	67					0	0	0	0	G	41349589	A	G	41349589	3	3	124	1	0	0	0	0	1	0	0	0	13247	449	16	5	115	5	RBX1	22	41349589	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	10025451	41349589	9954977	239	24052											
FAM47A	158724	broad.mit.edu	37	chrX	34149744	34149744	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggagactggacaccggagTcttgggaggctccgggctta	7	7	17	10	3	1	1	0	0	1	1	2	5	2	4	2	6	0	2	2	6	1	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:34149744T>G	ENST00000346193.3	-	1	703	c.652A>C	c.(652-654)Act>Cct	p.T218P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	218	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GACACCGGAGTCTTGGGAGGC	0.657													36	17					0	0	0	0	G	34149744	T	G	34149744	3	3	124	1	0	0	0	0	1	0	0	0	5616	1667	58	5	1727	5	FAM47A	23	34149744	Missense_Mutation	SNP	T	TCGA-CN-A641-01A-11D-A30E-08		34149744	121120816	240	24053											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													4	116					0	0	0	0	G	37028425	A	G	37028425	3	3	124	1	0	0	0	0	1	0	0	0	5618	130	5	5	1944	5	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-CN-A641-01A-11D-A30E-08	2878681	37028425	118242135	241	24054											
SLC7A3	84889	broad.mit.edu	37	chrX	70146401	70146401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgaaggggagtggaactCtgtggctgtctccagatgac	10	9	15	7	0	2	3	0	2	2	1	3	5	2	5	1	4	1	1	1	4	3	0			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:70146401C>T	ENST00000374299.3	-	10	1740	c.1596G>A	c.(1594-1596)caG>caA	p.Q532Q	SLC7A3_ENST00000298085.4_Silent_p.Q532Q			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	532					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GAGTGGAACTCTGTGGCTGTC	0.473													3	5					0	0	0	0	T	70146401	C	T	70146401	2	4	124	1	0	0	0	0	0	0	0	1	14786	912	32	2		2	SLC7A3	23	70146401	Silent	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	33117976	70146401	85124159	242	24055											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298719	125298719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgagcttcctccctgcggGccccggcatggagtccaggc	4	8	13	16	2	0	1	0	1	0	0	3	2	3	2	5	4	2	2	5	4	0	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:125298719G>T	ENST00000538699.1	-	2	1269	c.1189C>A	c.(1189-1191)Ccc>Acc	p.P397T	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.P397T	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	397										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTCCCTGCGGGCCCCGGCATG	0.617													74	34					2.51111e-31	3.511e-31	1	0	T	125298719	G	T	125298719	3	4	124	1	0	0	0	0	1	0	0	0	4298	1203	42	4	206	4	DCAF12L2	23	125298719	Missense_Mutation	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	55152318	125298719	29971841	243	24056											
GPR119	139760	broad.mit.edu	37	chrX	129518776	129518776	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagtcgctgggagtccGtggggatcgataacctccag	8	10	14	9	3	0	1	0	1	0	0	4	4	2	3	3	3	1	1	3	3	2	2			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:129518776G>T	ENST00000276218.2	-	1	735	c.646C>A	c.(646-648)Cgg>Agg	p.R216R		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	216						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CTGGGAGTCCGTGGGGATCGA	0.527													29	26					1.17739e-12	1.40469e-12	1	0	T	129518776	G	T	129518776	2	4	124	1	0	0	0	0	0	0	0	1	6683	1144	40	3		3	GPR119	23	129518776	Silent	SNP	G	TCGA-CN-A641-01A-11D-A30E-08	4220057	129518776	25751784	244	24057											
F9	2158	broad.mit.edu	37	chrX	138633414	138633414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgccaaaccaggtcaattCccttggcaggtactttatac	11	11	8	11	0	1	0	1	0	0	0	2	1	2	0	3	3	4	2	3	3	5	6			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:138633414C>A	ENST00000218099.2	+	6	721	c.714C>A	c.(712-714)ttC>ttA	p.F238L	F9_ENST00000394090.2_Missense_Mutation_p.F200L	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	238	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CAGGTCAATTCCCTTGGCAGG	0.463													27	16					9.04412e-07	9.87503e-07	1	0	A	138633414	C	A	138633414	3	1	124	1	0	0	0	0	1	0	0	0	5392	854	30	2	736	2	F9	23	138633414	Missense_Mutation	SNP	C	TCGA-CN-A641-01A-11D-A30E-08	9114638	138633414	16637146	245	24058											
CASP9	842	broad.mit.edu	37	chr1	15844869	15844869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcctggcctgatcccGccgagatccagagcctgccc	6	6	11	18	2	0	3	0	1	0	2	2	4	2	3	7	1	4	1	7	1	0	0			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:15844869G>A	ENST00000546424.1	-	2	398	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	CASP9_ENST00000333868.5_Missense_Mutation_p.R52W|CASP9_ENST00000375890.4_5'UTR|CASP9_ENST00000348549.5_Missense_Mutation_p.R52W|CASP9_ENST00000469637.1_5'UTR			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	52	CARD.				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		GCCTGATCCCGCCGAGATCCA	0.522													4	50					0	0	0	0	A	15844869	G	A	15844869	3	1	125	1	0	0	0	0	1	0	0	0	2704	1086	38	1	1128	1	CASP9	1	15844869	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08		15844869	233405752	1	24059											
PTPRU	10076	broad.mit.edu	37	chr1	29651716	29651716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcagaaacgggggaggaCgcagcggcaccttctgcgcc	9	5	14	13	4	2	1	1	0	1	1	2	3	2	3	2	4	3	2	2	4	1	2			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:29651716C>T	ENST00000356870.3	+	30	4254	c.4144C>T	c.(4144-4146)Cgc>Tgc	p.R1382C	PTPRU_ENST00000345512.3_Missense_Mutation_p.R1386C|PTPRU_ENST00000428026.2_Missense_Mutation_p.R1373C|PTPRU_ENST00000460170.2_Missense_Mutation_p.R1380C|PTPRU_ENST00000373779.3_Missense_Mutation_p.R1376C|PTPRU_ENST00000323874.8_Missense_Mutation_p.R1382C	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1386	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CGGGGGAGGACGCAGCGGCAC	0.592													27	68					0	0	0	0	T	29651716	C	T	29651716	3	4	125	1	0	0	0	0	1	0	0	0	12895	536	19	1	4296	1	PTPRU	1	29651716	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	13806847	29651716	219598905	2	24060											
CSMD2	114784	broad.mit.edu	37	chr1	34042979	34042979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgctgtgtcccaccaggCggtagccggcgttgcagcca	6	7	13	15	3	0	0	0	0	0	0	1	0	1	0	5	3	4	4	5	3	1	2			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:34042979C>T	ENST00000373381.4	-	49	7669	c.7493G>A	c.(7492-7494)cGc>cAc	p.R2498H		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2500	Sushi 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCACCAGGCGGTAGCCGGC	0.642													42	59					0	0	0	0	T	34042979	C	T	34042979	3	4	125	1	0	0	0	0	1	0	0	0	3977	768	27	1	3044	1	CSMD2	1	34042979	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	4391263	34042979	215207642	3	24061											
SPATA6	54558	broad.mit.edu	37	chr1	48764386	48764386	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtttatcatggatggtctCagaagctttcctgtgtatgt	8	16	11	6	0	2	1	2	0	1	1	4	2	3	2	1	3	1	3	1	3	3	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:48764386C>T	ENST00000371847.3	-	13	1630	c.1466G>A	c.(1465-1467)tGa>tAa	p.*489*	SPATA6_ENST00000371843.3_Silent_p.*473*|SPATA6_ENST00000396199.3_Silent_p.*417*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	0					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TGGATGGTCTCAGAAGCTTTC	0.373													58	88					0	0	0	0	T	48764386	C	T	48764386	2	4	125	1	0	0	0	0	0	0	0	1	15103	837	29	2		2	SPATA6	1	48764386	Silent	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	14721407	48764386	200486235	4	24062											
CCDC18	343099	broad.mit.edu	37	chr1	93680488	93680488	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgattcaagaggagctgctaGagaaagcttcaaactccagc	14	8	10	9	0	2	3	2	1	0	2	3	5	3	4	1	1	5	3	1	1	4	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:93680488G>C	ENST00000343253.7	+	12	2183	c.1681G>C	c.(1681-1683)Gag>Cag	p.E561Q	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Missense_Mutation_p.E361Q|CCDC18_ENST00000557479.1_Missense_Mutation_p.E680Q|CCDC18_ENST00000401026.3_Missense_Mutation_p.E562Q			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	561										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GGAGCTGCTAGAGAAAGCTTC	0.353													8	5					0	0	0	0	C	93680488	G	C	93680488	3	2	125	1	0	0	0	0	1	0	0	0	2820	943	33	2	2084	2	CCDC18	1	93680488	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	44916102	93680488	155570133	5	24063											
GPR61	83873	broad.mit.edu	37	chr1	110085927	110085927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggctgccctgaccctcatgCccctggccatgctctccagc	4	9	9	19	0	2	1	1	1	1	0	3	1	2	1	6	2	4	2	6	2	0	0			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:110085927C>T	ENST00000527748.1	+	2	966	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	95						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GACCCTCATGCCCCTGGCCAT	0.612													5	199					0	0	0	0	T	110085927	C	T	110085927	3	4	125	1	0	0	0	0	1	0	0	0	6751	739	26	4	285	4	GPR61	1	110085927	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	16405439	110085927	139164694	6	24064											
SYCP1	6847	broad.mit.edu	37	chr1	115419433	115419433	+	Splice_Site	DEL	T	T	-																															aaatgacaaggaaaagcaggTtttttaaaaaaccaactctt																										TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:115419433delT	ENST00000369522.3	+	11	1041		c.e11+2		SYCP1_ENST00000369518.1_Splice_Site	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1						cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		GAAAAGCAGGTTTTTTAAAAA	0.229													2	4	---	---	---	---					-	115419433	T	-	115419433	8	5	125	1	0	1	0	1	0	0	1	0	15522	1739	60	0	841	0	SYCP1	1	115419433	Splice_Site	DEL	T	TCGA-CN-A642-01A-12D-A30E-08	5333506	115419433	133831188	7	24065											
SETDB1	9869	broad.mit.edu	37	chr1	150919402	150919402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctatcgaggctctacacGgctggagcccatgttcagca	9	9	11	12	2	3	0	1	0	2	0	4	3	3	1	1	3	3	4	1	3	2	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:150919402G>A	ENST00000271640.5	+	10	1371	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	SETDB1_ENST00000368969.4_Missense_Mutation_p.R394Q|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	394	Tudor 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCTCTACACGGCTGGAGCCC	0.468													4	53					0	0	0	0	A	150919402	G	A	150919402	3	1	125	1	0	0	0	0	1	0	0	0	14225	1116	39	1	1215	1	SETDB1	1	150919402	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	35499969	150919402	98331219	8	24066											
FLG	2312	broad.mit.edu	37	chr1	152277449	152277449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctgactgctggtggcGggatccgtgtctctctcctg	2	13	14	12	2	3	1	0	1	3	0	6	2	4	2	2	3	2	2	2	3	0	0			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:152277449G>A	ENST00000368799.1	-	3	9948	c.9913C>T	c.(9913-9915)Cgc>Tgc	p.R3305C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3305	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R3305S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGTGGCGGGATCCGTGT	0.567									Ichthyosis				7	772					0	0	0	0	A	152277449	G	A	152277449	3	1	125	1	0	0	0	0	1	0	0	0	5967	1116	39	1	2276	1	FLG	1	152277449	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	1358047	152277449	96973172	9	24067											
NHLH1	4807	broad.mit.edu	37	chr1	160340795	160340795	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccgcgtggaagccttcAacctggccttcgccgagctg	6	8	12	15	4	1	0	1	0	0	0	3	2	2	1	5	2	3	2	5	2	2	2			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:160340795A>T	ENST00000302101.5	+	2	720	c.274A>T	c.(274-276)Aac>Tac	p.N92Y		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	92	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAAGCCTTCAACCTGGCCTT	0.667													24	44					0	0	0	0	T	160340795	A	T	160340795	3	4	125	1	0	0	0	0	1	0	0	0	10473	130	5	5	276	5	NHLH1	1	160340795	Missense_Mutation	SNP	A	TCGA-CN-A642-01A-12D-A30E-08	8063346	160340795	88909826	10	24068											
PRG4	10216	broad.mit.edu	37	chr1	186276532	186276532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaccaccaaggagcctGcacccaccactcccaaggag	12	2	7	20	0	0	0	0	0	0	0	1	2	1	2	8	2	2	1	8	2	2	0			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:186276532G>T	ENST00000445192.2	+	7	1726	c.1681G>T	c.(1681-1683)Gca>Tca	p.A561S	PRG4_ENST00000367483.4_Missense_Mutation_p.A520S|PRG4_ENST00000367486.3_Missense_Mutation_p.A518S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.A468S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	561	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTGCACCCACCAC	0.637													4	116					1	1	1	0	T	186276532	G	T	186276532	3	4	125	1	0	0	0	0	1	0	0	0	12561	1319	46	4	1703	4	PRG4	1	186276532	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	25935737	186276532	62974089	11	24069											
PLXNA2	5362	broad.mit.edu	37	chr1	208252709	208252709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgcacctgcgctcgcCgctgcaccagccacactcaa	8	5	11	17	3	1	0	1	0	0	0	2	1	1	0	4	1	4	4	4	1	1	0			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:208252709C>T	ENST00000367033.3	-	12	3239	c.2482G>A	c.(2482-2484)Ggc>Agc	p.G828S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	828					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGCGCTCGCCGCTGCACCAG	0.617													15	11					0	0	0	0	T	208252709	C	T	208252709	3	4	125	1	0	0	0	0	1	0	0	0	12192	652	23	1	3286	1	PLXNA2	1	208252709	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	21976177	208252709	40997912	12	24070											
STRN	6801	broad.mit.edu	37	chr2	37152277	37152277	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaagagcatactccaacatTttgatcctcctcacaagatc	13	12	4	12	0	1	3	1	1	0	2	5	3	4	3	3	0	3	1	3	0	4	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:37152277T>C	ENST00000263918.4	-	2	317	c.309A>G	c.(307-309)aaA>aaG	p.K103K	STRN_ENST00000379213.2_Silent_p.K91K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	103					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ACTCCAACATTTTGATCCTCC	0.393													5	108					0	0	0	0	C	37152277	T	C	37152277	2	2	125	1	0	0	0	0	0	0	0	1	15419	1838	64	5		5	STRN	2	37152277	Silent	SNP	T	TCGA-CN-A642-01A-12D-A30E-08		37152277	206047096	13	24071											
ADD2	119	broad.mit.edu	37	chr2	70933502	70933502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggctgcccctgcgggggCggcggcgaggcagcctcggg	4	4	20	13	5	0	0	0	0	0	0	1	1	0	0	3	7	3	2	3	7	1	1			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:70933502C>T	ENST00000264436.3	-	3	483	c.39G>A	c.(37-39)ccG>ccA	p.P13P	ADD2_ENST00000430656.1_Silent_p.P29P|ADD2_ENST00000413157.2_Silent_p.P13P|ADD2_ENST00000407644.2_Silent_p.P13P|ADD2_ENST00000355733.3_Silent_p.P13P	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	13					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCTGCGGGGGCGGCGGCGAGG	0.642													35	59					0	0	0	0	T	70933502	C	T	70933502	2	4	125	1	0	0	0	0	0	0	0	1	305	755	27	1		1	ADD2	2	70933502	Silent	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	33781225	70933502	172265871	14	24072											
SCN7A	6332	broad.mit.edu	37	chr2	167284441	167284441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgaccaagtgaagatcCgcgtctgcaacctgtcaaga	12	9	10	10	2	2	4	1	2	1	2	3	5	3	4	3	0	2	1	3	0	4	1	rs34324751		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:167284441C>T	ENST00000409855.1	-	17	2836	c.2710G>A	c.(2710-2712)Gga>Aga	p.G904R		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	904					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGTGAAGATCCGCGTCTGCAA	0.383													14	22					0	0	0	0	T	167284441	C	T	167284441	3	4	125	1	0	0	0	0	1	0	0	0	14010	661	23	1	2374	1	SCN7A	2	167284441	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	96350939	167284441	75914932	15	24073											
CASP8	841	broad.mit.edu	37	chr2	202131411	202131411	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaaggagctgctcttcCgaattaatagactggatttg	10	13	10	8	1	1	2	0	1	1	1	3	5	3	4	2	2	2	2	2	2	4	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:202131411C>T	ENST00000358485.4	+	2	575	c.379C>T	c.(379-381)Cga>Tga	p.R127*	CASP8_ENST00000392259.2_Nonsense_Mutation_p.R68*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R68*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R68*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R68*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R68*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.R68*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.R68*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	68	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R127*(1)|p.R68*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTGCTCTTCCGAATTAATAG	0.453										HNSCC(4;0.00038)			19	30					0	0	0	0	T	202131411	C	T	202131411	4	4	125	1	0	0	0	0	0	1	0	0	2702	644	23	1	385	1	CASP8	2	202131411	Nonsense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	34846970	202131411	41067962	16	24074											
BARD1	580	broad.mit.edu	37	chr2	215645897	215645897	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccagcttttgcttagatTcctctttggagtcaaattca	10	16	6	9	0	3	1	2	0	1	1	4	2	4	2	2	1	3	2	2	1	3	7			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:215645897T>A	ENST00000260947.4	-	4	835	c.701A>T	c.(700-702)gAa>gTa	p.E234V	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.E90V	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	234					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGCTTAGATTCCTCTTTGGA	0.373									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				24	49					0	0	0	0	A	215645897	T	A	215645897	3	1	125	1	0	0	0	0	1	0	0	0	1316	1783	62	5	1664	5	BARD1	2	215645897	Missense_Mutation	SNP	T	TCGA-CN-A642-01A-12D-A30E-08	13514486	215645897	27553476	17	24075											
TMEM169	92691	broad.mit.edu	37	chr2	216964799	216964799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcatcaagggaaacgaCgcctgaaggaagaatggcct	15	5	13	8	2	2	3	2	1	0	2	2	6	2	5	2	3	1	0	2	3	5	0			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:216964799C>T	ENST00000454545.1	+	4	754	c.428C>T	c.(427-429)aCg>aTg	p.T143M	TMEM169_ENST00000406027.2_Missense_Mutation_p.T143M|TMEM169_ENST00000437356.2_Missense_Mutation_p.T143M|TMEM169_ENST00000295658.4_Missense_Mutation_p.T143M	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	143						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGAAACGACGCCTGAAGGA	0.522													24	49					0	0	0	0	T	216964799	C	T	216964799	3	4	125	1	0	0	0	0	1	0	0	0	16178	536	19	1	434	1	TMEM169	2	216964799	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	1318902	216964799	26234574	18	24076											
HDAC11	79885	broad.mit.edu	37	chr3	13546139	13546139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtcacccagcgtctccGcacagaactcagacacaccg	11	5	8	17	3	3	3	2	1	1	2	4	3	3	3	3	0	2	1	3	0	1	0			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr3:13546139G>A	ENST00000295757.3	+	10	1183	c.1000G>A	c.(1000-1002)Gca>Aca	p.A334T	HDAC11_ENST00000446613.2_Missense_Mutation_p.A142T|HDAC11_ENST00000437379.2_Missense_Mutation_p.A306T|HDAC11_ENST00000404040.1_Missense_Mutation_p.A234T|HDAC11_ENST00000402259.1_Missense_Mutation_p.A168T|HDAC11_ENST00000402271.1_Missense_Mutation_p.A255T|HDAC11_ENST00000522202.1_Missense_Mutation_p.A283T|HDAC11_ENST00000433119.1_3'UTR	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CAGCGTCTCCGCACAGAACTC	0.607													19	47					0	0	0	0	A	13546139	G	A	13546139	3	1	125	1	0	0	0	0	1	0	0	0	7056	1087	38	1	1038	1	HDAC11	3	13546139	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08		13546139	184476291	19	24077											
GRM2	2912	broad.mit.edu	37	chr3	51749371	51749372	+	Frame_Shift_Del	DEL	TA	TA	-																															tctgcattccgtgccagcccTatgagtaccgattggacgaa																										TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr3:51749371_51749372delTA	ENST00000395052.3	+	4	1816_1817	c.1582_1583delTA	c.(1582-1584)tfs	p.Y528fs	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	528					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GTGCCAGCCCTATGAGTACCGA	0.609													20	53	---	---	---	---					-	51749372	TA	-	51749371	7	5	125	1	0	1	0	1	0	0	0	0	6847	1522	53	0	1592	0	GRM2	3	51749371	Frame_Shift_Del	DEL	TA	TCGA-CN-A642-01A-12D-A30E-08	38203232	51749371	146273059	20	24078											
HPS3	84343	broad.mit.edu	37	chr3	148857966	148857966	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtacattattgaaatgccGctttcggaggcccccttgtg	8	13	10	10	2	0	1	0	1	0	0	1	2	0	2	3	2	2	2	3	2	3	5			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr3:148857966G>A	ENST00000296051.2	+	2	533	c.393G>A	c.(391-393)ccG>ccA	p.P131P	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	131						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)			TTGAAATGCCGCTTTCGGAGG	0.453									Hermansky-Pudlak syndrome				5	150					0	0	0	0	A	148857966	G	A	148857966	2	1	125	1	0	0	0	0	0	0	0	1	7390	1074	38	1		1	HPS3	3	148857966	Silent	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	97108595	148857966	49164464	21	24079											
YEATS2	55689	broad.mit.edu	37	chr3	183491577	183491577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcctgcgagctacgaacaAtgctagttagtgaaaccatt	13	10	8	10	2	0	1	0	1	0	0	1	3	1	1	2	0	6	3	2	0	6	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr3:183491577A>G	ENST00000305135.5	+	17	2558	c.2363A>G	c.(2362-2364)aAt>aGt	p.N788S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	788					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTACGAACAATGCTAGTTAG	0.453													26	37					0	0	0	0	G	183491577	A	G	183491577	3	3	125	1	0	0	0	0	1	0	0	0	17568	101	4	5	2425	5	YEATS2	3	183491577	Missense_Mutation	SNP	A	TCGA-CN-A642-01A-12D-A30E-08	34633611	183491577	14530853	22	24080											
THPO	7066	broad.mit.edu	37	chr3	184090590	184090590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtccaggaaagagtccaCgagttccattcaagagttcg	12	8	12	9	2	1	2	1	0	0	2	5	4	4	3	3	2	0	2	3	2	2	3	rs147206404		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr3:184090590C>T	ENST00000204615.7	-	6	987	c.773G>A	c.(772-774)cGt>cAt	p.R258H	THPO_ENST00000445696.2_Missense_Mutation_p.R254H|THPO_ENST00000421442.2_Silent_p.S219S|EIF2B5_ENST00000444495.1_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	258					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAGAGTCCACGAGTTCCATT	0.562													61	105					0	0	0	0	T	184090590	C	T	184090590	3	4	125	1	0	0	0	0	1	0	0	0	15966	536	19	1	292	1	THPO	3	184090590	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	599013	184090590	13931840	23	24081											
MFSD10	10227	broad.mit.edu	37	chr4	2934445	2934445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaggccgcaaagctcCgagaggtggcccagactgca	11	3	14	13	2	0	2	0	0	0	2	1	4	1	3	4	4	2	3	4	4	2	0			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:2934445C>T	ENST00000329687.4	-	4	947	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	MFSD10_ENST00000507555.1_Missense_Mutation_p.R138Q|MFSD10_ENST00000355443.4_Missense_Mutation_p.R138Q|MFSD10_ENST00000514800.1_Missense_Mutation_p.R138Q|MFSD10_ENST00000508221.1_Missense_Mutation_p.R138Q	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	138					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGCAAAGCTCCGAGAGGTGGC	0.652													30	56					0	0	0	0	T	2934445	C	T	2934445	3	4	125	1	0	0	0	0	1	0	0	0	9597	652	23	1	990	1	MFSD10	4	2934445	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08		2934445	188219831	24	24082											
USP46	64854	broad.mit.edu	37	chr4	53464859	53464859	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatagtgatataatgccCacgattaggaccactggaaa	16	8	8	9	1	0	1	0	1	0	0	0	4	0	3	2	2	1	0	2	2	6	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:53464859C>G	ENST00000441222.2	-	8	1118	c.934G>C	c.(934-936)Ggg>Cgg	p.G312R	USP46_ENST00000451218.2_Missense_Mutation_p.G285R|USP46_ENST00000508499.1_Missense_Mutation_p.G305R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	312					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			ATATAATGCCCACGATTAGGA	0.358													7	15					0	0	0	0	G	53464859	C	G	53464859	3	3	125	1	0	0	0	0	1	0	0	0	17173	594	21	4	174	4	USP46	4	53464859	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	50530414	53464859	137689417	25	24083											
PDGFRA	5156	broad.mit.edu	37	chr4	55146617	55146617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagatcactctatgatcGtccagcctcatataagaaga	14	9	7	11	1	3	4	2	1	1	3	5	5	4	4	3	0	1	0	3	0	4	3	rs141047712		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:55146617G>A	ENST00000257290.5	+	16	2622	c.2291G>A	c.(2290-2292)cGt>cAt	p.R764H	FIP1L1_ENST00000507166.1_Missense_Mutation_p.R524H	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	764	Protein kinase.		R -> C (in dbSNP:rs34392012).		cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTCTATGATCGTCCAGCCTCA	0.388			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			15	19					0	0	0	0	A	55146617	G	A	55146617	3	1	125	1	0	0	0	0	1	0	0	0	11732	1145	40	1	2349	1	PDGFRA	4	55146617	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	1681758	55146617	136007659	26	24084											
TET2	54790	broad.mit.edu	37	chr4	106156608	106156608	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgttccattgtgttctgaGaaaacaagaccaatgtcaga	14	11	8	8	0	2	3	1	1	1	3	3	4	3	3	2	0	1	2	2	0	4	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:106156608G>A	ENST00000540549.1	+	3	2369	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E	TET2_ENST00000305737.2_Silent_p.E503E|TET2_ENST00000545826.1_Silent_p.E503E|TET2_ENST00000394764.1_Silent_p.E503E|TET2_ENST00000413648.2_Silent_p.E503E|TET2_ENST00000513237.1_Silent_p.E524E|TET2_ENST00000380013.4_Silent_p.E503E			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	503					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGTGTTCTGAGAAAACAAGAC	0.453			"Mis N, F"		MDS								22	59					0	0	0	0	A	106156608	G	A	106156608	2	1	125	1	0	0	0	0	0	0	0	1	15864	933	33	2		2	TET2	4	106156608	Silent	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	51009991	106156608	84997668	27	24085											
POLK	51426	broad.mit.edu	37	chr5	74892176	74892176	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagagaaaactgacaaagAtaagtttgtaaaacctctag	19	10	7	5	0	1	3	0	1	1	2	1	4	1	3	1	0	2	2	1	0	8	5			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:74892176A>G	ENST00000241436.4	+	13	1830	c.1658A>G	c.(1657-1659)gAt>gGt	p.D553G	POLK_ENST00000508526.1_Missense_Mutation_p.D355G|POLK_ENST00000380481.3_Missense_Mutation_p.D463G|POLK_ENST00000352007.5_Missense_Mutation_p.D355G|POLK_ENST00000504026.1_Intron|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	553					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		ACTGACAAAGATAAGTTTGTA	0.373								DNA polymerases (catalytic subunits)					20	30					0	0	0	0	G	74892176	A	G	74892176	3	3	125	1	0	0	0	0	1	0	0	0	12276	333	12	5	1704	5	POLK	5	74892176	Missense_Mutation	SNP	A	TCGA-CN-A642-01A-12D-A30E-08		74892176	106023084	28	24086											
ERAP1	51752	broad.mit.edu	37	chr5	96124350	96124350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgcagtgtccaagtgttCatcatggttttcacatccac	8	15	7	11	0	4	0	3	0	1	0	6	0	6	0	2	1	1	3	2	1	1	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:96124350C>T	ENST00000296754.3	-	11	1820	c.1563G>A	c.(1561-1563)atG>atA	p.M521I	ERAP1_ENST00000443439.2_Missense_Mutation_p.M521I	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	521					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TCCAAGTGTTCATCATGGTTT	0.468													34	14					0	0	0	0	T	96124350	C	T	96124350	3	4	125	1	0	0	0	0	1	0	0	0	5241	826	29	2	1331	2	ERAP1	5	96124350	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	21232174	96124350	84790910	29	24087											
TGFBI	7045	broad.mit.edu	37	chr5	135392430	135392430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagtctacacagtctttgctCccacaaatgaagccttccga	11	10	7	13	1	2	1	0	1	2	0	4	3	4	1	3	0	3	1	3	0	3	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:135392430C>T	ENST00000442011.2	+	12	1785	c.1624C>T	c.(1624-1626)Ccc>Tcc	p.P542S	TGFBI_ENST00000305126.8_Missense_Mutation_p.P542S	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	542	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTCTTTGCTCCCACAAATGA	0.498													44	20					0	0	0	0	T	135392430	C	T	135392430	3	4	125	1	0	0	0	0	1	0	0	0	15914	855	30	2	1670	2	TGFBI	5	135392430	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	39268080	135392430	45522830	30	24088											
PCDHB3	56132	broad.mit.edu	37	chr5	140481656	140481656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacatcggcagtgtcagcGccacagacagagactcaggc	11	5	12	13	2	2	2	2	0	0	2	3	3	2	2	1	2	2	2	1	2	0	0			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:140481656G>A	ENST00000231130.2	+	1	1423	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		475	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTGTCAGCGCCACAGACAG	0.637													166	80					0	0	0	0	A	140481656	G	A	140481656	3	1	125	1	0	0	0	0	1	0	0	0	11614	1087	38	1	1425	1	PCDHB3	5	140481656	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	5089226	140481656	40433604	31	24089											
HIST1H3J	8356	broad.mit.edu	37	chr6	27858231	27858231	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatagtgacacgcttggcgtGaatagcacagaggttggtgt	11	10	14	6	2	0	3	0	2	0	1	0	3	0	3	0	3	1	3	0	3	4	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:27858231G>C	ENST00000359303.2	-	1	339	c.340C>G	c.(340-342)Cac>Gac	p.H114D		NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	114					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						CGCTTGGCGTGAATAGCACAG	0.542													31	63					0	0	0	0	C	27858231	G	C	27858231	3	2	125	1	0	0	0	0	1	0	0	0	7214	1290	45	2	74	2	HIST1H3J	6	27858231	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08		27858231	143256836	32	24090											
TRIM15	89870	broad.mit.edu	37	chr6	30131821	30131821	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccgtggggttcctggaCgaggccattcagccctaccg	7	7	12	15	3	1	0	1	0	0	0	2	2	2	1	5	4	2	1	5	4	1	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:30131821C>T	ENST00000376694.4	+	1	829	c.360C>T	c.(358-360)gaC>gaT	p.D120D	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	120					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GGTTCCTGGACGAGGCCATTC	0.582													29	33					0	0	0	0	T	30131821	C	T	30131821	2	4	125	1	0	0	0	0	0	0	0	1	16585	535	19	1		1	TRIM15	6	30131821	Silent	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	2273590	30131821	140983246	33	24091											
HLA-B	3106	broad.mit.edu	37	chr6	31323247	31323247	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctcagtgtcctgagtttGgtcctcgccatcccgctgcc	5	11	10	15	2	1	1	1	1	0	0	5	1	4	1	5	1	2	3	5	1	1	1	rs72558120		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:31323247G>A	ENST00000412585.2	-	4	770	c.742C>T	c.(742-744)Caa>Taa	p.Q248*		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCCTGAGTTTGGTCCTCGCCA	0.592									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				50	125					0	0	0	0	A	31323247	G	A	31323247	4	1	125	1	0	0	0	0	0	1	0	0	7246	1357	47	4	362	4	HLA-B	6	31323247	Nonsense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	1191426	31323247	139791820	34	24092											
COL11A2	1302	broad.mit.edu	37	chr6	33144527	33144527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttggttccagggggaccttCcttccctgggtgaccctggg	3	12	14	12	0	0	1	0	1	0	0	3	2	3	2	5	5	0	1	5	5	0	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:33144527C>T	ENST00000341947.2	-	26	2313	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	COL11A2_ENST00000395197.1_Missense_Mutation_p.E636K|COL11A2_ENST00000374713.1_Missense_Mutation_p.E649K|COL11A2_ENST00000374708.4_Missense_Mutation_p.E610K|COL11A2_ENST00000374712.1_Missense_Mutation_p.E615K|COL11A2_ENST00000374714.1_Missense_Mutation_p.E670K|COL11A2_ENST00000361917.1_Missense_Mutation_p.E589K|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.E675K	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	696	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						GGGGGACCTTCCTTCCCTGGG	0.537													13	18					0	0	0	0	T	33144527	C	T	33144527	3	4	125	1	0	0	0	0	1	0	0	0	3698	864	30	2	3288	2	COL11A2	6	33144527	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	1821280	33144527	137970540	35	24093											
DAAM2	23500	broad.mit.edu	37	chr6	39866669	39866669	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctagcagaactggagAaggaggtgggcaacctcagg	13	4	15	9	0	1	2	1	0	0	2	1	4	1	3	2	5	4	2	2	5	4	1			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:39866669A>G	ENST00000538976.1	+	22	2817	c.2635A>G	c.(2635-2637)Aag>Gag	p.K879E	DAAM2_ENST00000398904.2_Missense_Mutation_p.K879E|DAAM2_ENST00000274867.4_Missense_Mutation_p.K879E|RP11-61I13.3_ENST00000437947.1_RNA	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	879	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGAACTGGAGAAGGAGGTGGG	0.587													9	14					0	0	0	0	G	39866669	A	G	39866669	3	3	125	1	0	0	0	0	1	0	0	0	4249	247	9	5	2717	5	DAAM2	6	39866669	Missense_Mutation	SNP	A	TCGA-CN-A642-01A-12D-A30E-08	6722142	39866669	131248398	36	24094											
EEF1A1	1915	broad.mit.edu	37	chr6	74227627	74227627	+	Missense_Mutation	SNP	G	G	A																															tgatgacacccaccgcaactGtctgtctcatatcacgaaca																										TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:74227627G>A	ENST00000316292.9	-	7	2286	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I	EEF1A1_ENST00000309268.6_Missense_Mutation_p.T432I|EEF1A1_ENST00000331523.2_Missense_Mutation_p.T432I|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	432						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CACCGCAACTGTCTGTCTCAT	0.403											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	25					0	0	0	0	A	74227627	G	A	74227627	3	1	125	1	0	0	0	0	1	0	0	0	4959	1377	48	4	97	4	EEF1A1	6	74227627	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	34360958	74227627	96887440	37	24095	199	2									
EEF1A1	1915	broad.mit.edu	37	chr6	74227628	74227628	+	Missense_Mutation	SNP	T	T	A																															gatgacacccaccgcaactgTctgtctcatatcacgaacag																										TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:74227628T>A	ENST00000316292.9	-	7	2285	c.1294A>T	c.(1294-1296)Aca>Tca	p.T432S	EEF1A1_ENST00000309268.6_Missense_Mutation_p.T432S|EEF1A1_ENST00000331523.2_Missense_Mutation_p.T432S|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	432						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACCGCAACTGTCTGTCTCATA	0.403											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	25					0	0	0	0	A	74227628	T	A	74227628	3	1	125	1	0	0	0	0	1	0	0	0	4959	1667	58	5	98	5	EEF1A1	6	74227628	Missense_Mutation	SNP	T	TCGA-CN-A642-01A-12D-A30E-08	1	74227628	96887439	38	24096	199	2									
DNAH11	8701	broad.mit.edu	37	chr7	21940720	21940720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcaaaagccacccccGtggacagacaagaaaccaaa	16	5	7	13	1	1	2	0	0	1	2	1	3	1	3	4	1	3	1	4	1	5	1			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr7:21940720G>A	ENST00000328843.6	+	83	13451	c.13420G>A	c.(13420-13422)Gtg>Atg	p.V4474M	DNAH11_ENST00000409508.3_Missense_Mutation_p.V4467M|CDCA7L_ENST00000356195.5_3'UTR|CDCA7L_ENST00000406877.3_3'UTR			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4474					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGCCACCCCCGTGGACAGACA	0.557									Kartagener syndrome				38	87					0	0	0	0	A	21940720	G	A	21940720	3	1	125	1	0	0	0	0	1	0	0	0	4636	1145	40	1	13747	1	DNAH11	7	21940720	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08		21940720	137197943	39	24097											
CPVL	54504	broad.mit.edu	37	chr7	29105701	29105701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctggaagtaagaaggatCacttgttaagtcgccatcta	13	12	9	7	1	3	1	1	0	2	1	4	3	3	3	1	2	0	2	1	2	5	5			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr7:29105701C>A	ENST00000409850.1	-	14	1547	c.901G>T	c.(901-903)Gat>Tat	p.D301Y	CPVL_ENST00000265394.5_Missense_Mutation_p.D301Y|CPVL_ENST00000396276.3_Missense_Mutation_p.D301Y			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	301					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TAAGAAGGATCACTTGTTAAG	0.343													23	70					2.41591e-17	2.52916e-17	1	0	A	29105701	C	A	29105701	3	1	125	1	0	0	0	0	1	0	0	0	3865	826	29	2	545	2	CPVL	7	29105701	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	7164981	29105701	130032962	40	24098											
CDK14	5218	broad.mit.edu	37	chr7	90419964	90419964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacctttcacagctatcaggGaaggtaggcacttttccttg	9	12	9	11	0	2	0	2	0	0	0	3	1	3	1	2	3	1	3	2	3	3	6			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr7:90419964G>A	ENST00000406263.1	+	4	845	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	CDK14_ENST00000436577.2_Missense_Mutation_p.E52K|CDK14_ENST00000265741.3_Missense_Mutation_p.E163K|CDK14_ENST00000380050.3_Missense_Mutation_p.E181K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	181	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AGCTATCAGGGAAGGTAGGCA	0.398													20	32					0	0	0	0	A	90419964	G	A	90419964	3	1	125	1	0	0	0	0	1	0	0	0	3159	1175	41	2	501	2	CDK14	7	90419964	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	61314263	90419964	68718699	41	24099											
DOCK4	9732	broad.mit.edu	37	chr7	111462470	111462470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttggaaacatctccgggcGtatcaatattcggaacacag	12	10	9	10	3	2	0	1	0	1	0	4	2	2	2	1	3	2	1	1	3	5	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr7:111462470G>A	ENST00000428084.1	-	27	3150	c.2878C>T	c.(2878-2880)Cgc>Tgc	p.R960C	DOCK4_ENST00000437633.1_Missense_Mutation_p.R960C			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	960					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.R948C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATCTCCGGGCGTATCAATATT	0.368													6	13					0	0	0	0	A	111462470	G	A	111462470	3	1	125	1	0	0	0	0	1	0	0	0	4725	1145	40	1	3126	1	DOCK4	7	111462470	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	21042506	111462470	47676193	42	24100											
SMARCD3	6604	broad.mit.edu	37	chr7	150938616	150938616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattgatgtattccttgtCatgggagtcctgcagcctgt	6	14	10	11	0	1	1	1	1	0	0	3	2	3	2	4	1	2	2	4	1	1	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr7:150938616C>A	ENST00000392811.2	-	9	1336	c.862G>T	c.(862-864)Gac>Tac	p.D288Y	SMARCD3_ENST00000356800.2_Missense_Mutation_p.D288Y|SMARCD3_ENST00000262188.8_Missense_Mutation_p.D301Y	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	301	SWIB.				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TATTCCTTGTCATGGGAGTCC	0.587													9	10					4.68919e-08	4.76024e-08	1	0	A	150938616	C	A	150938616	3	1	125	1	0	0	0	0	1	0	0	0	14867	826	29	2	574	2	SMARCD3	7	150938616	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	39476146	150938616	8200047	43	24101											
DEFB135	613209	broad.mit.edu	37	chr8	11842021	11842021	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaaatgtctaaaaaacgaAcaatatcgtattttgtgtga	17	12	6	6	2	1	1	0	1	1	0	2	2	1	1	1	0	2	1	1	0	9	5			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:11842021A>G	ENST00000382208.2	+	2	156	c.156A>G	c.(154-156)gaA>gaG	p.E52E		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	52					defense response to bacterium	extracellular region				endometrium(1)|large_intestine(2)|prostate(1)	4						TAAAAAACGAACAATATCGTA	0.383													28	51					0	0	0	0	G	11842021	A	G	11842021	2	3	125	1	0	0	0	0	0	0	0	1	4456	40	2	5		5	DEFB135	8	11842021	Silent	SNP	A	TCGA-CN-A642-01A-12D-A30E-08		11842021	134522001	44	24102											
TNFRSF10A	8797	broad.mit.edu	37	chr8	23069663	23069663	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcccaaagggctatgttcCcattgctgtgtgccaattga	8	13	9	11	0	1	1	0	1	1	0	3	1	2	1	3	1	2	3	3	1	3	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:23069663C>T	ENST00000221132.3	-	2	433	c.369G>A	c.(367-369)tgG>tgA	p.W123*		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	123					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GGCTATGTTCCCATTGCTGTG	0.458													25	74					0	0	0	0	T	23069663	C	T	23069663	4	4	125	1	0	0	0	0	0	1	0	0	16374	624	22	4	1073	4	TNFRSF10A	8	23069663	Nonsense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	11227642	23069663	123294359	45	24103											
PXDNL	137902	broad.mit.edu	37	chr8	52412318	52412318	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtagcatttctagttggttGaaatgaatatacctggaagg	12	14	11	4	0	1	2	0	2	1	0	1	3	1	3	1	3	2	4	1	3	7	7			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:52412318G>C	ENST00000356297.4	-	5	493	c.393C>G	c.(391-393)ttC>ttG	p.F131L	PXDNL_ENST00000543296.1_Missense_Mutation_p.F131L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	131					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTAGTTGGTTGAAATGAATAT	0.388													68	212					0	0	0	0	C	52412318	G	C	52412318	3	2	125	1	0	0	0	0	1	0	0	0	12930	1281	45	2	4074	2	PXDNL	8	52412318	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	29342655	52412318	93951704	46	24104											
TCEA1	6917	broad.mit.edu	37	chr8	54897066	54897066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgtctgtattccttatttCttgatatataggtaccaggc	9	17	7	8	0	2	1	0	1	2	0	3	1	3	1	2	2	1	2	2	2	6	9			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:54897066C>G	ENST00000521604.2	-	7	938	c.535G>C	c.(535-537)Gaa>Caa	p.E179Q	TCEA1_ENST00000396401.3_Missense_Mutation_p.E158Q|TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000522635.1_Intron	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	179	TFIIS central.				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			TTCCTTATTTCTTGATATATA	0.318			T	PLAG1	salivary adenoma								5	22					0	0	0	0	G	54897066	C	G	54897066	3	3	125	1	0	0	0	0	1	0	0	0	15761	922	32	2	386	2	TCEA1	8	54897066	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	2484748	54897066	91466956	47	24105											
MSC	9242	broad.mit.edu	37	chr8	72754954	72754954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctttggtgtcagagtccGgtcttcccgagaccacgaat	7	12	10	12	3	3	2	1	0	2	2	5	4	5	2	3	2	0	0	3	2	1	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:72754954G>A	ENST00000325509.4	-	2	852	c.563C>T	c.(562-564)cCg>cTg	p.P188L	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	188					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P188L(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GTCAGAGTCCGGTCTTCCCGA	0.463													8	853					0	0	0	0	A	72754954	G	A	72754954	3	1	125	1	0	0	0	0	1	0	0	0	9938	1116	39	1	61	1	MSC	8	72754954	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	17857888	72754954	73609068	48	24106											
SLC7A13	157724	broad.mit.edu	37	chr8	87242274	87242274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagaaaatagtattgagctCcactgcatgggaagcttata	14	11	10	6	0	0	2	0	2	0	1	1	4	1	3	1	1	3	4	1	1	7	5			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:87242274C>A	ENST00000297524.3	-	1	336	c.233G>T	c.(232-234)gGa>gTa	p.G78V	SLC7A13_ENST00000419776.2_Missense_Mutation_p.G78V|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	78						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GTATTGAGCTCCACTGCATGG	0.488													23	84					5.26018e-13	5.46406e-13	1	0	A	87242274	C	A	87242274	3	1	125	1	0	0	0	0	1	0	0	0	14783	855	30	2	1195	2	SLC7A13	8	87242274	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	14487320	87242274	59121748	49	24107											
MTSS1	9788	broad.mit.edu	37	chr8	125565869	125565869	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttggaatggtggaggaCttgtcgaactcctgctgatc	7	14	12	8	1	1	1	0	1	1	0	4	5	2	4	1	4	2	1	1	4	2	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:125565869C>G	ENST00000518547.1	-	14	2105	c.1632G>C	c.(1630-1632)aaG>aaC	p.K544N	MTSS1_ENST00000524090.1_Missense_Mutation_p.K434N|MTSS1_ENST00000523587.1_5'UTR|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000431961.2_Missense_Mutation_p.K262N|MTSS1_ENST00000378017.3_Missense_Mutation_p.K519N|MTSS1_ENST00000354184.4_Missense_Mutation_p.K262N|MTSS1_ENST00000325064.5_Missense_Mutation_p.K548N|MTSS1_ENST00000395508.2_Missense_Mutation_p.K318N	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	544					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGGTGGAGGACTTGTCGAACT	0.493													55	33					0	0	0	0	G	125565869	C	G	125565869	3	3	125	1	0	0	0	0	1	0	0	0	10032	564	20	4	639	4	MTSS1	8	125565869	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	38323595	125565869	20798153	50	24108											
EPPK1	83481	broad.mit.edu	37	chr8	144944662	144944662	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtacctgcggacgccGtccatgagtaggagggcctc	8	6	14	13	3	0	1	0	1	0	0	2	3	1	3	4	4	2	2	4	4	2	2			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:144944662G>A	ENST00000525985.1	-	2	2831	c.2760C>T	c.(2758-2760)gaC>gaT	p.D920D				P58107	EPIPL_HUMAN	epiplakin 1	920						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCGGACGCCGTCCATGAGTA	0.667													51	30					0	0	0	0	A	144944662	G	A	144944662	2	1	125	1	0	0	0	0	0	0	0	1	5228	1136	40	1		1	EPPK1	8	144944662	Silent	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	19378793	144944662	1419360	51	24109											
HAUS6	54801	broad.mit.edu	37	chr9	19087116	19087116	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggttttccaatcctataCattcagatctcaagtttcgt	9	18	5	9	1	2	1	2	0	1	1	6	1	4	1	2	1	1	2	2	1	4	7			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr9:19087116C>G	ENST00000380502.3	-	6	1090	c.623G>C	c.(622-624)tGt>tCt	p.C208S	HAUS6_ENST00000380496.1_Missense_Mutation_p.C72S	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	208					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAATCCTATACATTCAGATCT	0.338													15	65					0	0	0	0	G	19087116	C	G	19087116	3	3	125	1	0	0	0	0	1	0	0	0	7020	478	17	4	2292	4	HAUS6	9	19087116	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08		19087116	122126315	52	24110											
IKBKAP	8518	broad.mit.edu	37	chr9	111653498	111653498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctgccagagttctgcCgaggcccaccagctggtctt	6	10	10	15	1	2	1	0	0	2	1	2	2	2	1	5	2	4	2	5	2	1	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr9:111653498C>T	ENST00000374647.5	-	28	3452	c.3145G>A	c.(3145-3147)Ggc>Agc	p.G1049S	IKBKAP_ENST00000537196.1_Missense_Mutation_p.G700S	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1049					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGAGTTCTGCCGAGGCCCACC	0.403													4	208					0	0	0	0	T	111653498	C	T	111653498	3	4	125	1	0	0	0	0	1	0	0	0	7663	652	23	1	893	1	IKBKAP	9	111653498	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	92566382	111653498	29559933	53	24111											
SFMBT2	57713	broad.mit.edu	37	chr10	7214470	7214470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatacctcccccgagcccGcggtgaagtccacggcagaa	11	4	10	16	4	0	2	0	1	0	1	2	3	2	2	5	2	3	1	5	2	4	1			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr10:7214470G>A	ENST00000361972.4	-	18	2228	c.2138C>T	c.(2137-2139)gCg>gTg	p.A713V	SFMBT2_ENST00000397167.1_Missense_Mutation_p.A713V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	713					regulation of transcription, DNA-dependent	nucleus		p.A713V(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCCCGAGCCCGCGGTGAAGTC	0.637													20	27					0	0	0	0	A	7214470	G	A	7214470	3	1	125	1	0	0	0	0	1	0	0	0	14245	1087	38	1	562	1	SFMBT2	10	7214470	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08		7214470	128320277	54	24112											
ARHGAP22	58504	broad.mit.edu	37	chr10	49791162	49791162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcatccgcccagggctccGgctctgctcccccatcacta	5	7	9	20	3	2	0	1	0	1	0	5	0	5	0	5	3	1	4	5	3	1	1			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr10:49791162G>A	ENST00000249601.4	-	2	366	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R30W|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R24W	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	24					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGGGCTCCGGCTCTGCTCC	0.632													5	259					0	0	0	0	A	49791162	G	A	49791162	3	1	125	1	0	0	0	0	1	0	0	0	874	1115	39	1	2062	1	ARHGAP22	10	49791162	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	42576692	49791162	85743585	55	24113											
TCTN3	26123	broad.mit.edu	37	chr10	97440280	97440280	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcctgatacatgagcttgCgggttggacaggagacctac	10	9	12	10	1	0	3	0	2	0	1	1	5	1	4	2	3	4	2	2	3	2	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr10:97440280C>T	ENST00000265993.8	-	13	1782	c.1539G>A	c.(1537-1539)ccG>ccA	p.P513P	TCTN3_ENST00000430368.1_Silent_p.P365P|TCTN3_ENST00000371217.4_Silent_p.P526P	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3	513					apoptosis	integral to membrane		p.P513P(2)|p.P335P(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		CATGAGCTTGCGGGTTGGACA	0.463													4	208					0	0	0	0	T	97440280	C	T	97440280	2	4	125	1	0	0	0	0	0	0	0	1	15818	755	27	1		1	TCTN3	10	97440280	Silent	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	47649118	97440280	38094467	56	24114											
DNMBP	23268	broad.mit.edu	37	chr10	101731859	101731859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagaagtcaaaaatggctCgaaccactgagccagcctcc	13	5	10	13	1	1	2	1	1	0	1	3	3	2	2	4	2	3	2	4	2	4	0			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr10:101731859C>T	ENST00000342239.3	-	2	114	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	DNMBP_ENST00000324109.4_Missense_Mutation_p.R8Q			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	8	SH3 1.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAAAATGGCTCGAACCACTGA	0.403													39	69					0	0	0	0	T	101731859	C	T	101731859	3	4	125	1	0	0	0	0	1	0	0	0	4710	884	31	1	4774	1	DNMBP	10	101731859	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	4291579	101731859	33802888	57	24115											
HRAS	3265	broad.mit.edu	37	chr11	534286	534286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcactcttgcccacacCgccggcgcccaccaccacca	8	3	7	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	1	7	1	0	1	rs104894228		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr11:534286C>A	ENST00000417302.1	-	2	224	c.37G>T	c.(37-39)Ggt>Tgt	p.G13C	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13C|HRAS_ENST00000451590.1_Missense_Mutation_p.G13C|HRAS_ENST00000397596.2_Missense_Mutation_p.G13C|HRAS_ENST00000311189.7_Missense_Mutation_p.G13C	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			36	13					6.90743e-12	7.11996e-12	1	0	A	534286	C	A	534286	3	1	125	1	0	0	0	0	1	0	0	0	7398	652	23	3	615	3	HRAS	11	534286	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08		534286	134472230	58	24116											
TMEM216	51259	broad.mit.edu	37	chr11	61161357	61161357	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttgtattggcaggTgtcctgctaccatatccaac	7	14	9	11	0	0	0	0	0	0	0	2	0	2	0	3	3	3	4	3	3	4	6			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.136_splice	c.e3-1	p.G46_splice	TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice|TMEM216_ENST00000398979.3_5'UTR			Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													9	23					0	0	0	0	G	61161357	T	G	61161357	5	3	125	1	0	0	0	0	0	0	1	0	16233	1710	59	5	148	5	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-CN-A642-01A-12D-A30E-08	60627071	61161357	73845159	59	24117											
SF1	7536	broad.mit.edu	37	chr11	64533419	64533419	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggagggggcggggcAtacatcatgccggcggaacc	9	3	20	9	3	1	0	1	0	0	0	1	4	1	4	2	9	3	1	2	9	2	1			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr11:64533419A>C	ENST00000377390.3	-	13	2128	c.1791T>G	c.(1789-1791)taT>taG	p.Y597*	SF1_ENST00000377387.1_Intron|SF1_ENST00000377394.3_Intron|SF1_ENST00000334944.5_Intron|SF1_ENST00000227503.9_Intron|SF1_ENST00000433274.2_Nonsense_Mutation_p.Y571*|SF1_ENST00000422298.2_Intron	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	597	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA 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						GGGGCGGGGCATACATCATGC	0.716													5	8					0	0	0	0	C	64533419	A	C	64533419	4	2	125	1	0	0	0	0	0	1	0	0	14232	224	8	5	266	5	SF1	11	64533419	Nonsense_Mutation	SNP	A	TCGA-CN-A642-01A-12D-A30E-08	3372062	64533419	70473097	60	24118											
SLC22A20	440044	broad.mit.edu	37	chr11	64990058	64990058	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaggaaggggaaaggctGaccaaggaggtaagcgagct	15	3	18	5	1	0	1	0	1	0	0	0	6	0	5	1	7	2	3	1	7	5	1			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr11:64990058G>A	ENST00000525437.1	+	0	956							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GGGAAAGGCTGACCAAGGAGG	0.547													18	45					0	0	0	0	A	64990058	G	A	64990058	1	1	125	0	1	0	0	0	0	0	0	0	14540	1290	45	2		2	SLC22A20	11	64990058	RNA	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	456639	64990058	70016458	61	24119											
ARHGEF12	23365	broad.mit.edu	37	chr11	120329912	120329912	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acactgaaagagctcatgttCgaacactgaaggttcttgat	13	11	9	8	1	2	4	1	3	1	1	3	5	2	4	0	1	2	3	0	1	3	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr11:120329912C>T	ENST00000397843.2	+	26	2576	c.2410C>T	c.(2410-2412)Cga>Tga	p.R804*	ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.R701*|AP000758.1_ENST00000595283.1_Missense_Mutation_p.E46K|ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.R785*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	804	DH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGCTCATGTTCGAACACTGAA	0.388			T	MLL	AML								4	87					0	0	0	0	T	120329912	C	T	120329912	4	4	125	1	0	0	0	0	0	1	0	0	899	876	31	1	2512	1	ARHGEF12	11	120329912	Nonsense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	55339854	120329912	14676604	62	24120											
NELL2	4753	broad.mit.edu	37	chr12	45269630	45269630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaagatcaaacagaatgttCtcagtaagacccgagactcc	15	7	8	11	2	2	4	2	0	1	4	4	6	3	4	2	0	1	2	2	0	4	2			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr12:45269630C>T	ENST00000429094.2	-	1	527	c.23G>A	c.(22-24)aGa>aAa	p.R8K	NELL2_ENST00000333837.4_Missense_Mutation_p.R31K|NELL2_ENST00000452445.2_Missense_Mutation_p.R8K|NELL2_ENST00000437801.2_Missense_Mutation_p.R58K|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000548826.1_Missense_Mutation_p.R8K|NELL2_ENST00000549027.1_5'UTR	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	8					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACAGAATGTTCTCAGTAAGAC	0.542													53	77					0	0	0	0	T	45269630	C	T	45269630	3	4	125	1	0	0	0	0	1	0	0	0	10404	913	32	2	2563	2	NELL2	12	45269630	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08		45269630	88582265	63	24121											
ZNF385A	25946	broad.mit.edu	37	chr12	54767763	54767763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggattcagacacacctggacGgggtgctacaccatccccat	10	7	10	14	1	1	1	1	0	0	1	2	3	2	3	4	4	2	1	4	4	1	2			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr12:54767763G>A	ENST00000546970.1	-	5	644	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551109.1_Missense_Mutation_p.R119C|ZNF385A_ENST00000551771.1_Missense_Mutation_p.R119C|ZNF385A_ENST00000352268.6_Missense_Mutation_p.R139C|ZNF385A_ENST00000338010.5_Missense_Mutation_p.R139C|ZNF385A_ENST00000394313.2_Missense_Mutation_p.R119C|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						ACACCTGGACGGGGTGCTACA	0.567													25	53					0	0	0	0	A	54767763	G	A	54767763	3	1	125	1	0	0	0	0	1	0	0	0	17971	1116	39	1	765	1	ZNF385A	12	54767763	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	9498133	54767763	79084132	64	24122											
TRHDE	29953	broad.mit.edu	37	chr12	72667102	72667102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgccacccgctacgtagtgCtgcacgcttcccgagtggcg	6	7	12	16	6	0	0	0	0	0	0	1	1	1	0	3	1	3	5	3	1	2	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr12:72667102C>T	ENST00000261180.4	+	1	640	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	182					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTACGTAGTGCTGCACGCTTC	0.617													29	39					0	0	0	0	T	72667102	C	T	72667102	2	4	125	1	0	0	0	0	0	0	0	1	16574	796	28	4		4	TRHDE	12	72667102	Silent	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	17899339	72667102	61184793	65	24123											
ANO4	121601	broad.mit.edu	37	chr12	101365182	101365182	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaatgtaagaatgcctttCaggtaggtggaaatgtattt	13	14	11	3	0	1	2	1	1	0	1	1	3	1	3	1	3	1	3	1	3	6	5			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr12:101365182C>T	ENST00000392979.3	+	5	811	c.450C>T	c.(448-450)ttC>ttT	p.F150F	ANO4_ENST00000392977.3_Silent_p.F185F|ANO4_ENST00000538618.1_Silent_p.F351F|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	185						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAATGCCTTTCAGGTAGGTGG	0.378										HNSCC(74;0.22)			21	42					0	0	0	0	T	101365182	C	T	101365182	2	4	125	1	0	0	0	0	0	0	0	1	698	825	29	2		2	ANO4	12	101365182	Silent	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	28698080	101365182	32486713	66	24124											
ZC3H13	23091	broad.mit.edu	37	chr13	46559722	46559722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcatctcccttgagtccCgcatgtctctggagtctctt	4	15	7	15	1	4	1	1	1	4	0	9	2	5	2	2	1	0	1	2	1	0	2			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr13:46559722C>T	ENST00000242848.4	-	10	1778	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R477Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	477	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CCTTGAGTCCCGCATGTCTCT	0.527													5	239					0	0	0	0	T	46559722	C	T	46559722	3	4	125	1	0	0	0	0	1	0	0	0	17660	652	23	1	3296	1	ZC3H13	13	46559722	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08		46559722	68610156	67	24125											
CHD8	57680	broad.mit.edu	37	chr14	21875158	21875158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaaagtggtgatcagagCgtcaaacttgtatgcgcctg	11	10	11	9	2	3	2	3	1	0	1	3	2	3	2	1	1	3	1	1	1	4	2			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr14:21875158C>T	ENST00000399982.2	-	13	2828	c.2764G>A	c.(2764-2766)Gct>Act	p.A922T	CHD8_ENST00000557364.1_Missense_Mutation_p.A922T|CHD8_ENST00000430710.3_Missense_Mutation_p.A643T|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	922	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTGATCAGAGCGTCAAACTTG	0.413													5	4					0	0	0	0	T	21875158	C	T	21875158	3	4	125	1	0	0	0	0	1	0	0	0	3360	768	27	1	5081	1	CHD8	14	21875158	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08		21875158	85474382	68	24126											
ITGA11	22801	broad.mit.edu	37	chr15	68619112	68619112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtataccgcctctcatcCatggtggcgttgtatctgat	6	14	11	10	2	2	1	1	1	2	0	4	1	3	1	3	3	1	3	3	3	3	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr15:68619112C>T	ENST00000423218.2	-	17	2186	c.2091G>A	c.(2089-2091)atG>atA	p.M697I	ITGA11_ENST00000315757.7_Missense_Mutation_p.M697I			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	697					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GCCTCTCATCCATGGTGGCGT	0.622													3	8					0	0	0	0	T	68619112	C	T	68619112	3	4	125	1	0	0	0	0	1	0	0	0	7927	594	21	4	1531	4	ITGA11	15	68619112	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08		68619112	33912280	69	24127											
RCN2	5955	broad.mit.edu	37	chr15	77241521	77241521	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagccacagattatggCagacagctccatgatgacta	14	8	10	9	0	0	5	0	3	0	2	1	5	1	5	2	1	2	2	2	1	3	2			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr15:77241521C>A	ENST00000394885.3	+	7	1135	c.912C>A	c.(910-912)ggC>ggA	p.G304G	RCN2_ENST00000394883.3_Silent_p.G203G|RCN2_ENST00000320963.5_Silent_p.G322G	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	304						endoplasmic reticulum lumen	calcium ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						CAGATTATGGCAGACAGCTCC	0.398													41	93					1.8453e-21	1.94701e-21	1	0	A	77241521	C	A	77241521	2	1	125	1	0	0	0	0	0	0	0	1	13262	697	25	4		4	RCN2	15	77241521	Silent	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	8622409	77241521	25289871	70	24128											
NUDT21	11051	broad.mit.edu	37	chr16	56481804	56481804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcctcattccaattttatCaaattcttccctcatgcgct	8	16	2	15	1	4	0	3	0	1	0	7	0	7	0	4	0	1	1	4	0	3	5			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:56481804C>G	ENST00000300291.5	-	2	386	c.214G>C	c.(214-216)Gat>Cat	p.D72H		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	72	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						CCAATTTTATCAAATTCTTCC	0.463													27	46					0	0	0	0	G	56481804	C	G	56481804	3	3	125	1	0	0	0	0	1	0	0	0	10809	826	29	2	493	2	NUDT21	16	56481804	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08		56481804	33872949	71	24129											
NLRC5	84166	broad.mit.edu	37	chr16	57057739	57057739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggtcctcaccccgccGgaagcagtgcaagaagcagc	9	5	13	14	2	1	1	1	0	0	1	2	2	2	2	4	2	4	3	4	2	3	0			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:57057739G>A	ENST00000436936.1	+	5	623	c.398G>A	c.(397-399)cGg>cAg	p.R133Q	NLRC5_ENST00000308149.7_Missense_Mutation_p.R133Q|NLRC5_ENST00000539144.1_Missense_Mutation_p.R133Q|NLRC5_ENST00000262510.6_Missense_Mutation_p.R133Q			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	133					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	p.R133Q(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCACCCCGCCGGAAGCAGTGC	0.617													3	9					0	0	0	0	A	57057739	G	A	57057739	3	1	125	1	0	0	0	0	1	0	0	0	10540	1116	39	1	408	1	NLRC5	16	57057739	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	575935	57057739	33297014	72	24130											
NLRC5	84166	broad.mit.edu	37	chr16	57095443	57095443	+	Splice_Site	DEL	C	C	-																															cctgcagctgacggagctcaCgtgagtgacccacccagccc																										TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:57095443delC	ENST00000436936.1	+	31	4295	c.4070_splice	c.e31+1	p.T1357_splice	NLRC5_ENST00000308149.7_Splice_Site_p.T1328_splice|NLRC5_ENST00000539144.1_Splice_Site_p.T1328_splice|NLRC5_ENST00000262510.6_Splice_Site_p.T1357_splice			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1357					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACGGAGCTCACGTGAGTGACC	0.647													30	43	---	---	---	---					-	57095443	C	-	57095443	8	5	125	1	0	1	0	1	0	0	1	0	10540	550	19	0	4184	0	NLRC5	16	57095443	Splice_Site	DEL	C	TCGA-CN-A642-01A-12D-A30E-08	37704	57095443	33259310	73	24131											
NLRC5	84166	broad.mit.edu	37	chr16	57111290	57111293	+	Splice_Site	DEL	GAGT	GAGT	-																															tgccagagctcaggaagataGagtgagtagccagccctaca																										TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:57111290_57111293delGAGT	ENST00000262510.6	+	41	5143_5144	c.4919_splice	c.e41+1	p.1640_splice	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Splice_Site_p.1611_splice|NLRC5_ENST00000539144.1_Splice_Site_p.1611_splice	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1640					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGGAAGATAGAGTGAGTAGCCAG	0.583													19	20	---	---	---	---					-	57111293	GAGT	-	57111290	8	5	125	1	0	1	0	1	0	0	1	0	10540	956	33	0	5072	0	NLRC5	16	57111290	Splice_Site	DEL	GAGT	TCGA-CN-A642-01A-12D-A30E-08	15847	57111290	33243463	74	24132											
NQO1	1728	broad.mit.edu	37	chr16	69746949	69746949	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgaattggccagagaatGacattcatgtccccgtggat	11	10	10	10	1	1	3	1	2	0	1	2	5	2	4	4	2	0	0	4	2	2	2			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:69746949G>A	ENST00000320623.5	-	5	1012	c.501C>T	c.(499-501)gtC>gtT	p.V167V	NQO1_ENST00000379046.2_Silent_p.V129V|NQO1_ENST00000379047.3_Intron|NQO1_ENST00000439109.2_Intron|NQO1_ENST00000564043.1_Silent_p.V146V|NQO1_ENST00000561500.1_Silent_p.V129V	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	167					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	GCCAGAGAATGACATTCATGT	0.463													92	175					0	0	0	0	A	69746949	G	A	69746949	2	1	125	1	0	0	0	0	0	0	0	1	10682	1277	45	2		2	NQO1	16	69746949	Silent	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	12635659	69746949	20607804	75	24133											
ELAC2	60528	broad.mit.edu	37	chr17	12916587	12916587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctggggcagagtggggccGcacagctacaagaaaaccac	12	5	13	11	1	1	2	0	0	1	2	1	2	1	2	2	4	3	3	2	4	4	2			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr17:12916587G>A	ENST00000338034.4	-	6	735	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	ELAC2_ENST00000395962.2_Missense_Mutation_p.R147W|ELAC2_ENST00000426905.3_Missense_Mutation_p.R166W|ELAC2_ENST00000578071.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	166					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GAGTGGGGCCGCACAGCTACA	0.488													13	23					0	0	0	0	A	12916587	G	A	12916587	3	1	125	1	0	0	0	0	1	0	0	0	5085	1086	38	1	2060	1	ELAC2	17	12916587	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08		12916587	68278623	76	24134											
MLLT6	4302	broad.mit.edu	37	chr17	36865454	36865454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctgcgaggagcagggccGggagagcaaggcggcctcgg	8	3	19	11	4	1	1	0	0	1	1	2	4	1	2	2	6	3	2	2	6	1	0			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr17:36865454G>A	ENST00000325718.7	+	5	474	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	MLLT6_ENST00000378137.5_Missense_Mutation_p.R128Q	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	128					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GAGCAGGGCCGGGAGAGCAAG	0.637			T	MLL	AL								73	197					0	0	0	0	A	36865454	G	A	36865454	3	1	125	1	0	0	0	0	1	0	0	0	9699	1116	39	1	401	1	MLLT6	17	36865454	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	23948867	36865454	44329756	77	24135											
KRT33B	3884	broad.mit.edu	37	chr17	39521784	39521784	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgaggcggtctccaagctGgcagcgcaaggtgttgactt	7	10	15	9	2	1	2	0	2	1	0	2	2	1	2	1	4	2	5	1	4	2	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr17:39521784G>A	ENST00000251646.3	-	4	659	c.610C>T	c.(610-612)Cag>Tag	p.Q204*		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	204	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCTCCAAGCTGGCAGCGCAAG	0.507													22	34					0	0	0	0	A	39521784	G	A	39521784	4	1	125	1	0	0	0	0	0	1	0	0	8522	1357	47	4	620	4	KRT33B	17	39521784	Nonsense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	2656330	39521784	41673426	78	24136											
JUP	3728	broad.mit.edu	37	chr17	39919477	39919477	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgctgttgttgcatgTcaggttggagagtgtgcccg	4	15	15	7	1	2	1	1	0	1	1	2	2	2	1	1	2	3	6	1	2	0	5			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr17:39919477T>G	ENST00000393931.3	-	8	1373	c.1255A>C	c.(1255-1257)Aca>Cca	p.T419P	JUP_ENST00000393930.1_Missense_Mutation_p.T419P|JUP_ENST00000310706.5_Missense_Mutation_p.T419P|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	419					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TTGTTGCATGTCAGGTTGGAG	0.562													32	42					0	0	0	0	G	39919477	T	G	39919477	3	3	125	1	0	0	0	0	1	0	0	0	8025	1667	58	5	1010	5	JUP	17	39919477	Missense_Mutation	SNP	T	TCGA-CN-A642-01A-12D-A30E-08	397693	39919477	41275733	79	24137											
DSEL	92126	broad.mit.edu	37	chr18	65179895	65179895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattcagcagcttgctctgCttcctgtatactggccatgg	8	13	9	11	0	2	0	1	0	1	0	3	0	3	0	2	2	5	5	2	2	3	5			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr18:65179895C>A	ENST00000310045.7	-	2	3454	c.1981G>T	c.(1981-1983)Gca>Tca	p.A661S	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	651						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GCTTGCTCTGCTTCCTGTATA	0.383													29	42					1.13719e-10	1.16323e-10	1	0	A	65179895	C	A	65179895	3	1	125	1	0	0	0	0	1	0	0	0	4811	797	28	4	1691	4	DSEL	18	65179895	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08		65179895	12897353	80	24138											
ELAVL1	1994	broad.mit.edu	37	chr19	8046013	8046013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccgttcagcgtgttgatcGctctctctgcatccttcgcg	4	13	10	14	5	3	1	1	1	2	0	7	1	4	1	2	0	3	4	2	0	0	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:8046013G>A	ENST00000407627.2	-	3	359	c.230C>T	c.(229-231)gCg>gTg	p.A77V	ELAVL1_ENST00000593807.1_Missense_Mutation_p.A77V|ELAVL1_ENST00000596459.1_Missense_Mutation_p.A77V|ELAVL1_ENST00000351593.5_Missense_Mutation_p.A104V	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	77	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	p.A77V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CGTGTTGATCGCTCTCTCTGC	0.527													22	51					0	0	0	0	A	8046013	G	A	8046013	3	1	125	1	0	0	0	0	1	0	0	0	5087	1087	38	1	766	1	ELAVL1	19	8046013	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08		8046013	51082970	81	24139											
MEF2B	100271849	broad.mit.edu	37	chr19	19261525	19261525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaggatgcgggagatcTggatttttttcctccccatc	6	13	11	11	1	1	1	0	0	1	1	5	4	4	3	4	4	1	0	4	4	0	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:19261525T>C	ENST00000602424.2	-	4	746	c.20A>G	c.(19-21)cAg>cGg	p.Q7R	MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.Q24R|MEF2B_ENST00000162023.5_Missense_Mutation_p.Q7R|MEF2B_ENST00000409224.1_Missense_Mutation_p.Q7R|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.Q7R|MEF2B_ENST00000409447.2_Missense_Mutation_p.Q7R|MEF2B_ENST00000410050.1_Missense_Mutation_p.Q7R|MEF2B_ENST00000424583.2_Missense_Mutation_p.Q7R|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GCGGGAGATCTGGATTTTTTT	0.562													19	37					0	0	0	0	C	19261525	T	C	19261525	3	2	125	1	0	0	0	0	1	0	0	0	9525	1580	55	5	1118	5	MEF2B	19	19261525	Missense_Mutation	SNP	T	TCGA-CN-A642-01A-12D-A30E-08	11215512	19261525	39867458	82	24140											
TSHZ3	57616	broad.mit.edu	37	chr19	31770258	31770258	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgccGttgttcttctccgaggaggg	2	13	14	12	2	2	0	0	0	2	0	3	2	2	1	2	2	6	7	2	2	0	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:31770258G>A	ENST00000240587.4	-	2	768	c.441C>T	c.(439-441)aaC>aaT	p.N147N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	147	Ser-rich.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgccgttgTTCTTCT	0.602													3	36					0	0	0	0	A	31770258	G	A	31770258	2	1	125	1	0	0	0	0	0	0	0	1	16720	1136	40	1		1	TSHZ3	19	31770258	Silent	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	12508733	31770258	27358725	83	24141											
ZNF224	7767	broad.mit.edu	37	chr19	44611165	44611165	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcagagaatccatacgggGgagaagccattcaaatgtga	15	7	11	8	1	2	3	2	1	0	2	3	5	3	3	2	2	2	0	2	2	4	2	rs149917035		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:44611165G>A	ENST00000336976.6	+	6	1106	c.852G>A	c.(850-852)ggG>ggA	p.G284G	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	284					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TCCATACGGGGGAGAAGCCAT	0.428													73	145					0	0	0	0	A	44611165	G	A	44611165	2	1	125	1	0	0	0	0	0	0	0	1	17873	1219	43	4		4	ZNF224	19	44611165	Silent	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	12840907	44611165	14517818	84	24142											
RRAS	6237	broad.mit.edu	37	chr19	50138866	50138866	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggggcagcccccgcccttCttcctgggggcactgggagg	4	6	16	15	1	1	0	0	0	1	0	2	1	2	1	4	6	1	2	4	6	0	2			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:50138866C>G	ENST00000246792.3	-	6	726	c.624G>C	c.(622-624)aaG>aaC	p.K208N		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	208					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		CCCCGCCCTTCTTCCTGGGGG	0.612													49	61					0	0	0	0	G	50138866	C	G	50138866	3	3	125	1	0	0	0	0	1	0	0	0	13761	912	32	2	36	2	RRAS	19	50138866	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	5527701	50138866	8990117	85	24143											
LILRB3	11025	broad.mit.edu	37	chr19	54723043	54723043	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgacgtcggaggaggaggaAgaggaggaggaagagcagca	14	2	20	5	2	0	3	0	1	0	2	1	10	0	10	0	7	2	2	0	7	2	0			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:54723043A>G	ENST00000391750.1	-	9	1517	c.1381T>C	c.(1381-1383)Ttc>Ctc	p.F461L	LILRA6_ENST00000419410.2_Missense_Mutation_p.F461L|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000245620.9_Missense_Mutation_p.F461L|LILRA6_ENST00000270464.5_Missense_Mutation_p.F461L|LILRB3_ENST00000424807.1_Missense_Mutation_p.F461L|LILRB3_ENST00000346401.6_Missense_Mutation_p.F473L|LILRB3_ENST00000407860.2_Missense_Mutation_p.F478L|LILRA6_ENST00000440558.2_Missense_Mutation_p.F461L			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	461					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		aggaggaggaagaggaggagg	0.597													3	31					0	0	0	0	G	54723043	A	G	54723043	3	3	125	1	0	0	0	0	1	0	0	0	8846	72	3	5	541	5	LILRB3	19	54723043	Missense_Mutation	SNP	A	TCGA-CN-A642-01A-12D-A30E-08	4584177	54723043	4405940	86	24144											
ZNF324B	388569	broad.mit.edu	37	chr19	58967400	58967400	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagcaccgcaagatccaCgcgggtgggcgtccttatgc	8	6	13	14	4	0	1	0	0	0	1	2	1	2	1	4	2	3	2	4	2	2	1			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:58967400C>T	ENST00000391696.1	+	3	1991	c.1059C>T	c.(1057-1059)caC>caT	p.H353H	ZNF324B_ENST00000336614.4_Silent_p.H363H|ZNF324B_ENST00000545523.1_Silent_p.H363H			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAAGATCCACGCGGGTGGGC	0.662													14	22					0	0	0	0	T	58967400	C	T	58967400	2	4	125	1	0	0	0	0	0	0	0	1	17940	535	19	1		1	ZNF324B	19	58967400	Silent	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	4244357	58967400	161583	87	24145											
PLCB4	5332	broad.mit.edu	37	chr20	9449252	9449252	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagcacaccaggctaagAtttctatggaaaatagcaaa	16	8	9	8	1	1	1	0	0	1	1	1	3	1	2	1	2	3	3	1	2	6	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:9449252A>G	ENST00000378501.2	+	32	3262	c.3247A>G	c.(3247-3249)Att>Gtt	p.I1083V	PLCB4_ENST00000278655.4_Missense_Mutation_p.I1083V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.I1095V|PLCB4_ENST00000334005.3_Missense_Mutation_p.I1083V|PLCB4_ENST00000414679.2_Missense_Mutation_p.I1095V|PLCB4_ENST00000378493.1_Missense_Mutation_p.I1083V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1083					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCAGGCTAAGATTTCTATGGA	0.413													4	163					0	0	0	0	G	9449252	A	G	9449252	3	3	125	1	0	0	0	0	1	0	0	0	12102	333	12	5	3413	5	PLCB4	20	9449252	Missense_Mutation	SNP	A	TCGA-CN-A642-01A-12D-A30E-08		9449252	53576268	88	24146											
HCK	3055	broad.mit.edu	37	chr20	30659561	30659561	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcctgtgtacgtgccGgatcccacatccaccatcaa	9	9	7	16	2	1	0	1	0	0	0	4	1	4	1	5	1	2	1	5	1	2	1			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:30659561G>A	ENST00000534862.1	+	3	462	c.99G>A	c.(97-99)ccG>ccA	p.P33P	HCK_ENST00000518730.1_Silent_p.P32P|HCK_ENST00000375862.2_Silent_p.P53P|HCK_ENST00000520553.1_Silent_p.P32P|HCK_ENST00000375852.2_Silent_p.P53P|HCK_ENST00000538448.1_Silent_p.P32P	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	53					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGTACGTGCCGGATCCCACAT	0.577													21	32					0	0	0	0	A	30659561	G	A	30659561	2	1	125	1	0	0	0	0	0	0	0	1	7044	1103	39	1		1	HCK	20	30659561	Silent	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	21210309	30659561	32365959	89	24147											
FAM83C	128876	broad.mit.edu	37	chr20	33875503	33875503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggtagagcgaggtaggagGagcgacccataagcggtgac	11	5	17	8	3	0	2	0	1	0	1	0	6	0	4	1	5	3	2	1	5	3	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:33875503G>A	ENST00000374408.3	-	4	1175	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	360										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAGGTAGGAGGAGCGACCCAT	0.652													19	23					0	0	0	0	A	33875503	G	A	33875503	3	1	125	1	0	0	0	0	1	0	0	0	5681	1174	41	2	1168	2	FAM83C	20	33875503	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	3215942	33875503	29150017	90	24148											
RPN2	6185	broad.mit.edu	37	chr20	35827605	35827605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgcccttactgctcgtctCagcaaggaggagactgtgct	8	10	12	11	1	1	1	1	0	1	1	3	3	1	2	1	2	5	3	1	2	2	1			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:35827605C>T	ENST00000237530.6	+	4	767	c.456C>T	c.(454-456)ctC>ctT	p.L152L	RPN2_ENST00000373622.5_Silent_p.L120L	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	152					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGCTCGTCTCAGCAAGGAGG	0.517													26	46					0	0	0	0	T	35827605	C	T	35827605	2	4	125	1	0	0	0	0	0	0	0	1	13693	813	29	2		2	RPN2	20	35827605	Silent	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	1952102	35827605	27197915	91	24149											
PTPRT	11122	broad.mit.edu	37	chr20	41385106	41385106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctggaggcactcacctttCacgatcagctccgcgtagtt	7	10	11	13	3	3	0	3	0	0	0	4	2	4	1	2	3	1	5	2	3	1	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:41385106C>T	ENST00000373198.3	-	6	1090	c.855G>A	c.(853-855)gtG>gtA	p.V285V	PTPRT_ENST00000373184.1_Silent_p.V285V|PTPRT_ENST00000356100.2_Silent_p.V285V|PTPRT_ENST00000373187.1_Silent_p.V285V|PTPRT_ENST00000373190.1_Silent_p.V285V|PTPRT_ENST00000373193.3_Silent_p.V285V|PTPRT_ENST00000373201.1_Silent_p.V285V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	285					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)				ACTCACCTTTCACGATCAGCT	0.572													11	24					0	0	0	0	T	41385106	C	T	41385106	2	4	125	1	0	0	0	0	0	0	0	1	12894	813	29	2		2	PTPRT	20	41385106	Silent	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	5557501	41385106	21640414	92	24150											
RIPK4	54101	broad.mit.edu	37	chr21	43161651	43161651	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcagccaggcatcctTgccctgcaggctcacgtcca	7	7	11	16	1	1	0	1	0	0	0	3	0	3	0	4	3	3	4	4	3	0	1			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr21:43161651T>A	ENST00000352483.2	-	9	1910	c.1846A>T	c.(1846-1848)Aag>Tag	p.K616*	RIPK4_ENST00000332512.3_Nonsense_Mutation_p.K568*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.K505*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.K505*			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	568						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						CAGGCATCCTTGCCCTGCAGG	0.677													29	48					0	0	0	0	A	43161651	T	A	43161651	4	1	125	1	0	0	0	0	0	1	0	0	13468	1821	63	5	656	5	RIPK4	21	43161651	Nonsense_Mutation	SNP	T	TCGA-CN-A642-01A-12D-A30E-08		43161651	4968244	93	24151											
ITGB2	3689	broad.mit.edu	37	chr21	46320369	46320369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaccagcagccgcgtgaCgttgcgccagccgatttcct	9	7	10	15	5	0	1	0	1	0	0	1	2	1	1	5	0	5	2	5	0	1	2			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr21:46320369C>T	ENST00000397850.2	-	8	1215	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	ITGB2_ENST00000397852.1_Missense_Mutation_p.V255I|ITGB2_ENST00000302347.5_Missense_Mutation_p.V255I|ITGB2_ENST00000397854.3_Missense_Mutation_p.V198I|ITGB2_ENST00000397857.1_Missense_Mutation_p.V255I|ITGB2_ENST00000355153.4_Missense_Mutation_p.V255I			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	255	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGCCGCGTGACGTTGCGCCAG	0.647													16	53					0	0	0	0	T	46320369	C	T	46320369	3	4	125	1	0	0	0	0	1	0	0	0	7947	536	19	1	1586	1	ITGB2	21	46320369	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	3158718	46320369	1809526	94	24152											
COL6A2	1292	broad.mit.edu	37	chr21	47546022	47546022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatcggggacatgttccacGagaagcacgagagtgaaaac	14	5	13	9	3	0	3	0	1	0	2	2	6	1	4	1	2	2	3	1	2	3	1			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr21:47546022G>A	ENST00000300527.4	+	26	2397	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K	COL6A2_ENST00000357838.4_Missense_Mutation_p.E765K|COL6A2_ENST00000397763.1_Missense_Mutation_p.E765K|COL6A2_ENST00000310645.5_Missense_Mutation_p.E765K|COL6A2_ENST00000409416.1_Missense_Mutation_p.E765K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	765	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CATGTTCCACGAGAAGCACGA	0.617													139	239					0	0	0	0	A	47546022	G	A	47546022	3	1	125	1	0	0	0	0	1	0	0	0	3730	1059	37	1	2391	1	COL6A2	21	47546022	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	1225653	47546022	583873	95	24153											
EP300	2033	broad.mit.edu	37	chr22	41556727	41556727	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacccttcccagcctcaaacGtaagtaactgcattattttg	11	12	6	12	1	1	0	1	0	0	0	2	1	2	0	3	0	4	3	3	0	4	6			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr22:41556727G>A	ENST00000263253.7	+	20	4890		c.e20+1			NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(1)|p.?(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGCCTCAAACGTAAGTAACTG	0.408			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				33	9					0	0	0	0	A	41556727	G	A	41556727	5	1	125	1	0	0	0	0	0	0	1	0	5186	1159	40	1	3750	1	EP300	22	41556727	Splice_Site	SNP	G	TCGA-CN-A642-01A-12D-A30E-08		41556727	9747839	96	24154											
BRD1	23774	broad.mit.edu	37	chr22	50217877	50217877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcttgagcgtaggtcagcGtttctcgcgtaggggagtgt	6	11	17	7	4	2	1	1	1	1	0	3	3	2	2	0	3	3	4	0	3	2	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr22:50217877G>A	ENST00000216267.8	-	1	575	c.89C>T	c.(88-90)aCg>aTg	p.T30M	BRD1_ENST00000457780.2_Missense_Mutation_p.T30M|BRD1_ENST00000404760.1_Missense_Mutation_p.T30M|BRD1_ENST00000404034.1_Missense_Mutation_p.T30M	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	30					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTAGGTCAGCGTTTCTCGCGT	0.478													113	39					0	0	0	0	A	50217877	G	A	50217877	3	1	125	1	0	0	0	0	1	0	0	0	1509	1145	40	1	3135	1	BRD1	22	50217877	Missense_Mutation	SNP	G	TCGA-CN-A642-01A-12D-A30E-08	8661150	50217877	1086689	97	24155											
MOV10L1	54456	broad.mit.edu	37	chr22	50528923	50528923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtcgttcctccctgtcCgcagcgtcattggcggtggt	3	12	12	14	4	1	0	1	0	0	0	5	0	4	0	4	3	1	2	4	3	0	2			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr22:50528923C>T	ENST00000540615.1	+	1	239	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	MOV10L1_ENST00000395858.3_Intron|MOV10L1_ENST00000262794.5_Intron|MOV10L1_ENST00000545383.1_Intron|MOV10L1_ENST00000475190.1_Intron|MOV10L1_ENST00000395843.1_Intron	NM_001164105.1	NP_001157577.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	0					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCTCCCTGTCCGCAGCGTCAT	0.612													11	11					0	0	0	0	T	50528923	C	T	50528923	3	4	125	1	0	0	0	0	1	0	0	0	9789	652	23	1	122	1	MOV10L1	22	50528923	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	311046	50528923	775643	98	24156											
HUWE1	10075	broad.mit.edu	37	chrX	53563110	53563110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggatttcctgacctacctCagtgctgaaggtgaggtcat	9	12	11	9	0	2	3	2	3	0	0	3	4	3	4	3	3	2	1	3	3	3	3			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chrX:53563110C>T	ENST00000342160.3	-	79	12986	c.12529G>A	c.(12529-12531)Gag>Aag	p.E4177K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E4177K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4177	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.E4067K(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGACCTACCTCAGTGCTGAAG	0.458													14	7					0	0	0	0	T	53563110	C	T	53563110	3	4	125	1	0	0	0	0	1	0	0	0	7514	835	29	2	615	2	HUWE1	23	53563110	Missense_Mutation	SNP	C	TCGA-CN-A642-01A-12D-A30E-08		53563110	101707450	99	24157											
ERCC6L	54821	broad.mit.edu	37	chrX	71427611	71427611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggttgcttgacttttTcttctgtacgtcttctttag	3	21	8	9	1	5	1	0	1	5	0	5	1	5	1	0	1	2	3	0	1	2	9			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chrX:71427611T>C	ENST00000373657.1	-	3	1239	c.637A>G	c.(637-639)Aaa>Gaa	p.K213E	ERCC6L_ENST00000334463.3_Missense_Mutation_p.K336E|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	336	Helicase ATP-binding.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CTTGACTTTTTCTTCTGTACG	0.368													82	32					0	0	0	0	C	71427611	T	C	71427611	3	2	125	1	0	0	0	0	1	0	0	0	5256	1792	62	5	2750	5	ERCC6L	23	71427611	Missense_Mutation	SNP	T	TCGA-CN-A642-01A-12D-A30E-08	17864501	71427611	83842949	100	24158											
COL4A5	1287	broad.mit.edu	37	chrX	107920732	107920732	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctgtggattattaaggtCtaccaggtccagaaggtcct	9	13	11	8	0	1	1	0	0	1	1	3	2	3	2	3	4	2	1	3	4	4	4			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chrX:107920732C>T	ENST00000328300.6	+	44	4055	c.3811C>T	c.(3811-3813)Cta>Tta	p.L1271L	COL4A5_ENST00000361603.2_Silent_p.L1265L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1265	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTATTAAGGTCTACCAGGTCC	0.438									Alport syndrome with Diffuse Leiomyomatosis				35	16					0	0	0	0	T	107920732	C	T	107920732	2	4	125	1	0	0	0	0	0	0	0	1	3724	912	32	2		2	COL4A5	23	107920732	Silent	SNP	C	TCGA-CN-A642-01A-12D-A30E-08	36493121	107920732	47349828	101	24159											
PRAMEF7	441871	broad.mit.edu	37	chr1	12979758	12979758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatctctcttggtgcccgaGcatccgtcaattaaaggagc	9	10	10	12	2	3	0	1	0	2	0	5	2	4	1	2	2	3	2	2	2	3	2			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:12979758G>A	ENST00000361079.2	+	4	1033	c.950G>A	c.(949-951)aGc>aAc	p.S317N						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGCCCGAGCATCCGTCAA	0.577													35	227					0	0	0	0	A	12979758	G	A	12979758	3	1	126	1	0	0	0	0	1	0	0	0	12518	971	34	4	960	4	PRAMEF7	1	12979758	Missense_Mutation	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08		12979758	236270863	1	24160											
SPATA21	374955	broad.mit.edu	37	chr1	16725272	16725272	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagggtcagtgggttcgAgctggcacagagctgagcca	9	6	16	10	1	1	3	1	1	0	2	2	4	1	3	2	3	3	4	2	3	0	1			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:16725272A>T	ENST00000335496.1	-	13	1880	c.1398T>A	c.(1396-1398)gcT>gcA	p.A466A	SPATA21_ENST00000540400.1_Silent_p.A443A|SPATA21_ENST00000466212.1_Intron	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	466							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		AGTGGGTTCGAGCTGGCACAG	0.587													22	39					0	0	0	0	T	16725272	A	T	16725272	2	4	126	1	0	0	0	0	0	0	0	1	15097	291	11	5		5	SPATA21	1	16725272	Silent	SNP	A	TCGA-CN-A6UY-01A-12D-A34J-08	3745514	16725272	232525349	2	24161											
ECE1	1889	broad.mit.edu	37	chr1	21605732	21605732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagcaggccaccagtcctgCcgccagaagtaccaccaaca	13	3	8	17	1	0	1	0	0	0	1	1	1	1	1	7	1	4	2	7	1	4	1			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:21605732C>A	ENST00000415912.2	-	3	309	c.184G>T	c.(184-186)Gca>Tca	p.A62S	ECE1_ENST00000436918.2_Missense_Mutation_p.A78S|ECE1_ENST00000374893.6_Missense_Mutation_p.A78S|ECE1_ENST00000357071.4_Missense_Mutation_p.A66S|ECE1_ENST00000264205.6_Missense_Mutation_p.A75S	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	78					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		ACCAGTCCTGCCGCCAGAAGT	0.637													45	69					1.35964e-18	1.51826e-18	1	0	A	21605732	C	A	21605732	3	1	126	1	0	0	0	0	1	0	0	0	4925	739	26	4	2148	4	ECE1	1	21605732	Missense_Mutation	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08	4880460	21605732	227644889	3	24162											
PTGER3	5733	broad.mit.edu	37	chr1	71478083	71478083	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggcgaacagctattaagaAgaagttgcattctttctgct	12	12	9	8	1	2	2	0	0	2	2	2	3	2	2	0	1	4	4	0	1	5	5			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:71478083A>T	ENST00000370924.4	-	2	1212	c.982T>A	c.(982-984)Ttc>Atc	p.F328I	PTGER3_ENST00000356595.4_Missense_Mutation_p.F328I|PTGER3_ENST00000414819.1_Missense_Mutation_p.F328I|PTGER3_ENST00000354608.5_Missense_Mutation_p.F328I|PTGER3_ENST00000306666.5_Missense_Mutation_p.F328I|PTGER3_ENST00000370932.2_Missense_Mutation_p.F328I|PTGER3_ENST00000370931.3_Missense_Mutation_p.F328I|PTGER3_ENST00000351052.5_Missense_Mutation_p.F328I|PTGER3_ENST00000460330.1_Missense_Mutation_p.F328I	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	328					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GCTATTAAGAAGAAGTTGCAT	0.423													33	43					0	0	0	0	T	71478083	A	T	71478083	3	4	126	1	0	0	0	0	1	0	0	0	12824	72	3	5	505	5	PTGER3	1	71478083	Missense_Mutation	SNP	A	TCGA-CN-A6UY-01A-12D-A34J-08	49872351	71478083	177772538	4	24163											
MSH4	4438	broad.mit.edu	37	chr1	76262786	76262786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcggactccaggagactcCacagagccgcccttcggtcc	7	8	10	16	3	0	2	0	0	0	2	5	4	3	3	5	3	1	0	5	3	0	2			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:76262786C>T	ENST00000263187.3	+	1	220	c.116C>T	c.(115-117)cCa>cTa	p.P39L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	39					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CAGGAGACTCCACAGAGCCGC	0.652								Mismatch excision repair (MMR)					18	26					0	0	0	0	T	76262786	C	T	76262786	3	4	126	1	0	0	0	0	1	0	0	0	9942	594	21	4	118	4	MSH4	1	76262786	Missense_Mutation	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08	4784703	76262786	172987835	5	24164											
SIKE1	80143	broad.mit.edu	37	chr1	115323142	115323142	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgccgccgactgatccacCagcgactcggcggccgcatc	7	4	12	18	7	0	1	0	1	0	0	3	3	1	1	5	2	2	1	5	2	0	0			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:115323142C>T	ENST00000369528.5	-	1	164	c.87G>A	c.(85-87)ctG>ctA	p.L29L	SIKE1_ENST00000060969.5_Silent_p.L29L|SIKE1_ENST00000506320.1_5'UTR	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	29						cytosol	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						ACTGATCCACCAGCGACTCGG	0.662													31	23					0	0	0	0	T	115323142	C	T	115323142	2	4	126	1	0	0	0	0	0	0	0	1	14408	581	21	4		4	SIKE1	1	115323142	Silent	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08	39060356	115323142	133927479	6	24165											
LYST	1130	broad.mit.edu	37	chr1	235945231	235945231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatagctcactcaccgttGaagagaagcaaatttcccag	14	9	7	11	1	3	2	3	1	0	1	4	3	4	2	2	0	2	3	2	0	4	3			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:235945231G>T	ENST00000389794.3	-	15	5193	c.5019C>A	c.(5017-5019)ttC>ttA	p.F1673L	LYST_ENST00000389793.2_Missense_Mutation_p.F1673L|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1673					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			actcaccgttgaaGAGAAGCA	0.403													36	42					6.04917e-29	7.11043e-29	1	0	T	235945231	G	T	235945231	3	4	126	1	0	0	0	0	1	0	0	0	9193	1281	45	2	6542	2	LYST	1	235945231	Missense_Mutation	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08	120622089	235945231	13305390	7	24166											
OR2T3	343173	broad.mit.edu	37	chr1	248637363	248637363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggatgaattctgccgccGgccacaggaaggccttggcc	9	6	13	13	2	1	1	0	1	1	0	1	3	1	3	5	5	1	0	5	5	2	2			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:248637363G>A	ENST00000359594.2	+	1	737	c.712G>A	c.(712-714)Ggc>Agc	p.G238S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTGCCGCCGGCCACAGGAA	0.562													93	135					0	0	0	0	A	248637363	G	A	248637363	3	1	126	1	0	0	0	0	1	0	0	0	11094	1116	39	1	714	1	OR2T3	1	248637363	Missense_Mutation	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08	12692132	248637363	613258	8	24167											
ABHD1	84696	broad.mit.edu	37	chr2	27352652	27352652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatcacctggcacaggcCaggcaggctgcagggctggt	8	6	15	12	0	1	1	1	1	0	0	1	1	1	1	2	6	1	5	2	6	1	0			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr2:27352652C>T	ENST00000316470.4	+	6	762	c.648C>T	c.(646-648)gcC>gcT	p.A216A		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	216						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCACAGGCCAGGCAGGCTG	0.557													29	45					0	0	0	0	T	27352652	C	T	27352652	2	4	126	1	0	0	0	0	0	0	0	1	73	581	21	4		4	ABHD1	2	27352652	Silent	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08		27352652	215846721	9	24168											
ACTG2	72	broad.mit.edu	37	chr2	74128448	74128448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacacacaccatgtgtgaaGaggagaccaccgcgctcgtg	11	5	11	14	3	0	3	0	1	0	2	1	4	0	3	4	1	0	1	4	1	1	0			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr2:74128448G>A	ENST00000409624.1	+	3	653	c.10G>A	c.(10-12)Gag>Aag	p.E4K	ACTG2_ENST00000409731.3_Missense_Mutation_p.E4K|ACTG2_ENST00000409918.1_Missense_Mutation_p.E4K|ACTG2_ENST00000345517.3_Missense_Mutation_p.E4K			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	4					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						CATGTGTGAAGAGGAGACCAC	0.582													17	38					0	0	0	0	A	74128448	G	A	74128448	3	1	126	1	0	0	0	0	1	0	0	0	197	943	33	2	12	2	ACTG2	2	74128448	Missense_Mutation	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08	46775796	74128448	169070925	10	24169											
COBLL1	22837	broad.mit.edu	37	chr2	165551421	165551421	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtctcttgtcattttGggagcaggtttcagaggact	7	14	12	8	0	3	1	2	0	1	1	4	3	3	3	1	3	1	2	1	3	0	4			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr2:165551421G>T	ENST00000375458.2	-	11	2702	c.2481C>A	c.(2479-2481)ccC>ccA	p.P827P	COBLL1_ENST00000409184.3_Silent_p.P865P|COBLL1_ENST00000194871.6_Silent_p.P932P|COBLL1_ENST00000392717.2_Silent_p.P903P|COBLL1_ENST00000342193.4_Silent_p.P865P	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	903										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTGTCATTTTGGGAGCAGGTT	0.433													53	71					4.17463e-26	4.82242e-26	1	0	T	165551421	G	T	165551421	2	4	126	1	0	0	0	0	0	0	0	1	3684	1335	47	4		4	COBLL1	2	165551421	Silent	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08	91422973	165551421	77647952	11	24170											
TTN	7273	broad.mit.edu	37	chr2	179432589	179432589	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttctggggttcctggtggGtcacagggatctctggctac	4	12	16	9	0	3	0	1	0	2	0	5	1	4	1	1	7	1	3	1	7	1	3			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr2:179432589G>C	ENST00000589042.1	-	326	78494	c.78270C>G	c.(78268-78270)gaC>gaG	p.D26090E	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23522E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D17150E|TTN_ENST00000342175.6_Missense_Mutation_p.D17217E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24449E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D17025E|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24449	Ig-like 126.						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)			TTCCTGGTGGGTCACAGGGAT	0.403													128	170					0	0	0	0	C	179432589	G	C	179432589	3	2	126	1	0	0	0	0	1	0	0	0	16831	1252	44	4	29857	4	TTN	2	179432589	Missense_Mutation	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08	13881168	179432589	63766784	12	24171											
LAMB2	3913	broad.mit.edu	37	chr3	49167739	49167739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacagagctcacagtggcGcccagctgtgttatgctgac	8	8	12	13	2	1	2	1	1	0	1	1	3	1	2	2	1	3	4	2	1	1	1			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr3:49167739G>A	ENST00000418109.1	-	10	1314	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	LAMB2_ENST00000305544.4_Missense_Mutation_p.R384C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	384	Laminin EGF-like 2.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCACAGTGGCGCCCAGCTGTG	0.607													25	12					0	0	0	0	A	49167739	G	A	49167739	3	1	126	1	0	0	0	0	1	0	0	0	8664	1087	38	1	4342	1	LAMB2	3	49167739	Missense_Mutation	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08		49167739	148854691	13	24172											
BOC	91653	broad.mit.edu	37	chr3	112989706	112989706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatgccagccaggaggaCgagggcatgtacaagtgtgc	11	6	16	8	1	0	1	0	1	0	0	0	4	0	3	2	3	4	2	2	3	3	1	rs140032333		TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr3:112989706C>G	ENST00000495514.1	+	6	1286	c.582C>G	c.(580-582)gaC>gaG	p.D194E	BOC_ENST00000355385.3_Missense_Mutation_p.D194E|BOC_ENST00000273395.4_Missense_Mutation_p.D194E			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	194	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCCAGGAGGACGAGGGCATGT	0.607													51	79					0	0	0	0	G	112989706	C	G	112989706	3	3	126	1	0	0	0	0	1	0	0	0	1486	535	19	3	596	3	BOC	3	112989706	Missense_Mutation	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08	63821967	112989706	85032724	14	24173											
GOLGB1	2804	broad.mit.edu	37	chr3	121435642	121435642	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcattcttatcttggagAagctttgaattttgatcctt	8	19	7	7	0	3	3	1	2	2	1	4	4	4	3	1	1	2	2	1	1	3	7			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr3:121435642A>T	ENST00000393667.3	-	9	1340	c.1230T>A	c.(1228-1230)ctT>ctA	p.L410L	GOLGB1_ENST00000340645.5_Silent_p.L405L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	405					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TATCTTGGAGAAGCTTTGAAT	0.433													65	106					0	0	0	0	T	121435642	A	T	121435642	2	4	126	1	0	0	0	0	0	0	0	1	6613	233	9	5		5	GOLGB1	3	121435642	Silent	SNP	A	TCGA-CN-A6UY-01A-12D-A34J-08	8445936	121435642	76586788	15	24174											
MUC4	4585	broad.mit.edu	37	chr3	195511822	195511822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggaagggctggtgacaGgaagaggggtggcctgacct	9	6	19	7	0	0	4	0	3	0	1	0	6	0	6	2	7	0	1	2	7	2	0			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr3:195511822G>T	ENST00000463781.3	-	2	7088	c.6629C>A	c.(6628-6630)cCt>cAt	p.P2210H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2210H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	999					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.P2210H(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGGTGACAGGAAGAGGGGT	0.597													3	12					0.115264	0.120667	1	0	T	195511822	G	T	195511822	3	4	126	1	0	0	0	0	1	0	0	0	10048	1000	35	4		4	MUC4	3	195511822	Missense_Mutation	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08	74076180	195511822	2510608	16	24175											
NDST4	64579	broad.mit.edu	37	chr4	115891640	115891640	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actaaagatgactcgttgtgGaagaggtggggctgcatgtg	10	10	16	5	1	0	3	0	1	0	2	1	4	0	4	0	4	1	3	0	4	3	2			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr4:115891640G>A	ENST00000264363.2	-	4	1845	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	389	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACTCGTTGTGGAAGAGGTGGG	0.443													30	45					0	0	0	0	A	115891640	G	A	115891640	2	1	126	1	0	0	0	0	0	0	0	1	10328	1165	41	2		2	NDST4	4	115891640	Silent	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08		115891640	75262636	17	24176											
TRIM60	166655	broad.mit.edu	37	chr4	165961778	165961778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagagggaagaaataaattCtgagtttgagcaaataagat	19	10	10	2	0	1	5	0	2	1	3	1	6	1	6	0	1	1	2	0	1	7	5			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr4:165961778C>T	ENST00000512596.1	+	3	770	c.554C>T	c.(553-555)tCt>tTt	p.S185F	TRIM60_ENST00000341062.5_Missense_Mutation_p.S185F|TRIM60_ENST00000508504.1_Missense_Mutation_p.S185F	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	185						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GAAATAAATTCTGAGTTTGAG	0.318													28	39					0	0	0	0	T	165961778	C	T	165961778	3	4	126	1	0	0	0	0	1	0	0	0	16630	913	32	2	556	2	TRIM60	4	165961778	Missense_Mutation	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08	50070138	165961778	25192498	18	24177											
ENPP6	133121	broad.mit.edu	37	chr4	185012391	185012391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctgggccagacaggcgggGcagtgctggcgcggcccttc	4	5	19	13	3	0	1	0	0	0	1	1	1	0	1	2	7	1	3	2	7	0	1			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr4:185012391G>A	ENST00000296741.2	-	8	1403	c.1262C>T	c.(1261-1263)gCc>gTc	p.A421V		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	421					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GACAGGCGGGGCAGTGCTGGC	0.557													23	66					0	0	0	0	A	185012391	G	A	185012391	3	1	126	1	0	0	0	0	1	0	0	0	5172	1203	42	4	64	4	ENPP6	4	185012391	Missense_Mutation	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08	19050613	185012391	6141885	19	24178											
CDH10	1008	broad.mit.edu	37	chr5	24537631	24537631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgttaatagcttgtgcGcgtagagtataaaaggcctt	10	14	10	7	2	1	1	0	0	1	1	1	1	1	1	1	1	2	4	1	1	6	8			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr5:24537631G>A	ENST00000264463.4	-	3	891	c.384C>T	c.(382-384)cgC>cgT	p.R128R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	128	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R128R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAGCTTGTGCGCGTAGAGTAT	0.413										HNSCC(23;0.051)			125	77					0	0	0	0	A	24537631	G	A	24537631	2	1	126	1	0	0	0	0	0	0	0	1	3125	1074	38	1		1	CDH10	5	24537631	Silent	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08		24537631	156377629	20	24179											
FER	2241	broad.mit.edu	37	chr5	108290547	108290547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaaggagactttttggtgCgagagagtcatgggaaacct	13	9	13	6	1	1	2	1	0	0	2	1	6	1	3	1	3	3	0	1	3	3	2			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr5:108290547C>G	ENST00000281092.4	+	12	1831	c.1447C>G	c.(1447-1449)Cga>Gga	p.R483G	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.R308G	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	483	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CTTTTTGGTGCGAGAGAGTCA	0.408													43	123					0	0	0	0	G	108290547	C	G	108290547	3	3	126	1	0	0	0	0	1	0	0	0	5858	760	27	3	1485	3	FER	5	108290547	Missense_Mutation	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08	83752916	108290547	72624713	21	24180											
PPARGC1B	133522	broad.mit.edu	37	chr5	149213163	149213163	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggtgctctgccctcactGtgcctggctcccaaggccta	6	9	10	16	0	2	0	1	0	1	0	3	0	3	0	4	3	3	2	4	3	3	1			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr5:149213163G>T	ENST00000309241.5	+	5	1559	c.1527G>T	c.(1525-1527)ctG>ctT	p.L509L	PPARGC1B_ENST00000360453.4_Silent_p.L470L|PPARGC1B_ENST00000394320.3_Silent_p.L509L|PPARGC1B_ENST00000403750.1_Silent_p.L445L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	509					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGCCCTCACTGTGCCTGGCTC	0.667													5	14					0.184627	0.184627	1	0	T	149213163	G	T	149213163	2	4	126	1	0	0	0	0	0	0	0	1	12372	1364	48	4		4	PPARGC1B	5	149213163	Silent	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08	40922616	149213163	31702097	22	24181											
ZBTB22	9278	broad.mit.edu	37	chr6	33284458	33284458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgatcatggaagtaagggGaggaggcagccaggacagcc	12	4	16	9	0	1	1	1	1	0	0	1	5	1	5	3	6	2	2	3	6	2	1			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr6:33284458G>A	ENST00000431845.2	-	2	387	c.236C>T	c.(235-237)tCc>tTc	p.S79F	ZBTB22_ENST00000418724.1_Missense_Mutation_p.S79F	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	79	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GAAGTAAGGGGAGGAGGCAGC	0.602													46	81					0	0	0	0	A	33284458	G	A	33284458	3	1	126	1	0	0	0	0	1	0	0	0	17625	1174	41	2	1672	2	ZBTB22	6	33284458	Missense_Mutation	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08		33284458	137830609	23	24182											
BAI3	577	broad.mit.edu	37	chr6	69349299	69349299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagtctgcaatcttaccagGgaggccaagcgaccacccaa	13	5	9	14	1	2	0	0	0	2	0	2	2	2	1	4	2	3	1	4	2	5	1			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr6:69349299G>A	ENST00000370598.1	+	3	1553	c.732G>A	c.(730-732)agG>agA	p.R244R		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	244					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCTTACCAGGGAGGCCAAGC	0.527													10	30					0	0	0	0	A	69349299	G	A	69349299	2	1	126	1	0	0	0	0	0	0	0	1	1304	1223	43	4		4	BAI3	6	69349299	Silent	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08	36064841	69349299	101765768	24	24183											
GRIK2	2898	broad.mit.edu	37	chr6	102134192	102134192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacgattgcaggcacctccGaaacccgattcaggtttgct	10	9	10	12	3	1	0	1	0	0	0	2	4	2	0	3	2	4	4	3	2	2	3	rs145542805	by1000genomes	TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr6:102134192G>A	ENST00000369138.1	+	6	1405	c.915G>A	c.(913-915)ccG>ccA	p.P305P	GRIK2_ENST00000421544.1_Silent_p.P305P|GRIK2_ENST00000318991.6_Silent_p.P305P|GRIK2_ENST00000358361.3_Silent_p.P305P|GRIK2_ENST00000369137.3_Silent_p.P305P|GRIK2_ENST00000413795.1_Silent_p.P305P|GRIK2_ENST00000369134.4_Silent_p.P256P	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	305					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGGCACCTCCGAAACCCGATT	0.393													25	73					0	0	0	0	A	102134192	G	A	102134192	2	1	126	1	0	0	0	0	0	0	0	1	6824	1045	37	1		1	GRIK2	6	102134192	Silent	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08	32784893	102134192	68980875	25	24184											
CNKSR3	154043	broad.mit.edu	37	chr6	154763341	154763341	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgggacttttccgtcggctActtatgtaattctgtaaatt	8	16	9	8	3	1	0	0	0	1	0	3	1	2	1	1	2	1	3	1	2	5	8			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr6:154763341A>T	ENST00000607772.1	-	3	844	c.300T>A	c.(298-300)agT>agA	p.S100R	CNKSR3_ENST00000479339.1_Missense_Mutation_p.S20R	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	100	CRIC.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCCGTCGGCTACTTATGTAAT	0.498													63	108					0	0	0	0	T	154763341	A	T	154763341	3	4	126	1	0	0	0	0	1	0	0	0	3638	388	14	5	1411	5	CNKSR3	6	154763341	Missense_Mutation	SNP	A	TCGA-CN-A6UY-01A-12D-A34J-08	52629149	154763341	16351726	26	24185											
AMPH	273	broad.mit.edu	37	chr7	38505847	38505847	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaacataaaatccaactcGtctgccatgtggaaacacaa	17	9	5	10	1	1	0	0	0	1	0	3	1	2	1	2	1	4	0	2	1	6	2			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr7:38505847G>A	ENST00000356264.2	-	8	807	c.590_splice	c.e8-1	p.R198_splice	AMPH_ENST00000428293.2_Splice_Site_p.R198_splice|AMPH_ENST00000325590.5_Splice_Site_p.R198_splice	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	198	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AATCCAACTCGTCTGCCATGT	0.368													17	30					0	0	0	0	A	38505847	G	A	38505847	5	1	126	1	0	0	0	0	0	0	1	0	588	1159	40	1	1551	1	AMPH	7	38505847	Splice_Site	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08		38505847	120632816	27	24186											
MAGI2	9863	broad.mit.edu	37	chr7	77797326	77797326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatagcggtgggttttgcCggctactggaatcccatcaa	9	10	12	10	2	1	0	1	0	0	0	2	2	2	1	2	4	3	2	2	4	4	4			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr7:77797326C>T	ENST00000354212.4	-	15	2756	c.2503G>A	c.(2503-2505)Ggc>Agc	p.G835S	MAGI2_ENST00000522391.1_Missense_Mutation_p.G835S|MAGI2_ENST00000419488.1_Missense_Mutation_p.G821S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	835	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding	p.G835S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGGTTTTGCCGGCTACTGGA	0.537													4	184					0	0	0	0	T	77797326	C	T	77797326	3	4	126	1	0	0	0	0	1	0	0	0	9260	652	23	1	1896	1	MAGI2	7	77797326	Missense_Mutation	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08	39291479	77797326	81341337	28	24187											
CCDC136	64753	broad.mit.edu	37	chr7	128452143	128452143	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgacaatgagagctattAcaagagttacaccagcaccc	15	7	9	10	0	0	3	0	2	0	2	0	5	0	4	2	1	4	3	2	1	5	3			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr7:128452143A>G	ENST00000297788.4	+	13	2685	c.2318A>G	c.(2317-2319)tAc>tGc	p.Y773C	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	773	Ser-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAGAGCTATTACAAGAGTTAC	0.502													28	48					0	0	0	0	G	128452143	A	G	128452143	3	3	126	1	0	0	0	0	1	0	0	0	2795	391	14	5	2368	5	CCDC136	7	128452143	Missense_Mutation	SNP	A	TCGA-CN-A6UY-01A-12D-A34J-08	50654817	128452143	30686520	29	24188											
DPYS	1807	broad.mit.edu	37	chr8	105456579	105456579	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctatggtgatggctctcagCgtggcctctgcctccactgc	4	11	12	14	1	2	1	1	1	2	0	4	1	3	1	3	3	3	2	3	3	1	1			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr8:105456579C>T	ENST00000351513.2	-	4	822	c.690G>A	c.(688-690)acG>acA	p.T230T		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	230					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGGCTCTCAGCGTGGCCTCTG	0.562													44	66					0	0	0	0	T	105456579	C	T	105456579	2	4	126	1	0	0	0	0	0	0	0	1	4782	755	27	1		1	DPYS	8	105456579	Silent	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08		105456579	40907443	30	24189											
KCNV2	169522	broad.mit.edu	37	chr9	2718573	2718573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctccgtggtggcgctggcGctcaacaccgtggaggagat	6	8	16	11	4	2	1	1	0	1	1	3	3	2	2	2	5	1	2	2	5	1	0			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr9:2718573G>A	ENST00000382082.3	+	1	1072	c.834G>A	c.(832-834)gcG>gcA	p.A278A		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	278						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TGGCGCTGGCGCTCAACACCG	0.677													24	15					0	0	0	0	A	2718573	G	A	2718573	2	1	126	1	0	0	0	0	0	0	0	1	8148	1074	38	1		1	KCNV2	9	2718573	Silent	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08		2718573	138494858	31	24190											
FUT7	2529	broad.mit.edu	37	chr9	139925703	139925703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttggctggcagcggtggcGagggcccccagtggggctcc	3	7	18	13	2	1	0	0	0	1	0	2	1	2	0	3	7	1	3	3	7	0	1			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr9:139925703G>A	ENST00000314412.6	-	2	1506	c.488C>T	c.(487-489)tCg>tTg	p.S163L	C9orf139_ENST00000314330.2_Intron	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	163					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CAGCGGTGGCGAGGGCCCCCA	0.682													16	17					0	0	0	0	A	139925703	G	A	139925703	3	1	126	1	0	0	0	0	1	0	0	0	6157	1059	37	1	544	1	FUT7	9	139925703	Missense_Mutation	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08	137207130	139925703	1287728	32	24191											
CDH23	64072	broad.mit.edu	37	chr10	73326535	73326535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccatcttcatcgtgaatGccacagaccccgacttgggg	8	8	10	15	3	2	2	1	1	1	1	3	3	2	2	4	2	1	0	4	2	1	2			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr10:73326535G>A	ENST00000224721.6	+	6	486	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	CDH23_ENST00000398809.4_Missense_Mutation_p.A156T|CDH23_ENST00000299366.7_Missense_Mutation_p.A201T|CDH23_ENST00000398842.3_Missense_Mutation_p.A156T|CDH23_ENST00000461841.3_Missense_Mutation_p.A201T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	156	Cadherin 2.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATCGTGAATGCCACAGACCC	0.612													20	18					0	0	0	0	A	73326535	G	A	73326535	3	1	126	1	0	0	0	0	1	0	0	0	3137	1319	46	4	488	4	CDH23	10	73326535	Missense_Mutation	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08		73326535	62208212	33	24192											
DNTT	1791	broad.mit.edu	37	chr10	98092349	98092349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgttgggatggactggctCccgggtaagtgctacatgga	7	10	15	9	1	0	0	0	0	0	0	1	3	1	3	2	5	2	4	2	5	2	3			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr10:98092349C>T	ENST00000419175.1	+	9	1525	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	DNTT_ENST00000371174.2_Missense_Mutation_p.S452F	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	452	Mediates interaction with DNTTIP2.			S -> SP (in Ref. 2; AAA53100).	DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGGACTGGCTCCCGGGTAAGT	0.582													89	135					0	0	0	0	T	98092349	C	T	98092349	3	4	126	1	0	0	0	0	1	0	0	0	4716	855	30	2	1389	2	DNTT	10	98092349	Missense_Mutation	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08	24765814	98092349	37442398	34	24193											
OR51G2	81282	broad.mit.edu	37	chr11	4936212	4936212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgatggacagcacggtgcGcaggatcagagcataagaga	13	4	16	8	3	1	2	1	0	0	2	1	6	1	4	0	4	3	3	0	4	1	1			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr11:4936212G>A	ENST00000322013.3	-	1	710	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCACGGTGCGCAGGATCAGA	0.522													26	29					0	0	0	0	A	4936212	G	A	4936212	3	1	126	1	0	0	0	0	1	0	0	0	11170	1087	38	1	266	1	OR51G2	11	4936212	Missense_Mutation	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08		4936212	130070304	35	24194											
GPR84	53831	broad.mit.edu	37	chr12	54756501	54756501	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaatggagccatatgcttGgcggaattggcggttcatgg	10	11	14	6	2	1	0	1	0	0	0	1	2	1	2	1	6	2	2	1	6	4	5			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr12:54756501G>A	ENST00000551809.1	-	1	1770	c.1135C>T	c.(1135-1137)Caa>Taa	p.Q379*	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Nonsense_Mutation_p.Q379*			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	379						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CCATATGCTTGGCGGAATTGG	0.547													7	341					0	0	0	0	A	54756501	G	A	54756501	4	1	126	1	0	0	0	0	0	1	0	0	6763	1357	47	4	59	4	GPR84	12	54756501	Nonsense_Mutation	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08		54756501	79095394	36	24195											
TAOK3	51347	broad.mit.edu	37	chr12	118636903	118636903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgattgtgctttcgtcatCgtgcatcatgacaagttcgg	8	15	10	8	3	2	2	2	2	0	0	5	2	2	2	0	1	2	3	0	1	1	4			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr12:118636903C>T	ENST00000392533.3	-	13	1637	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	TAOK3_ENST00000419821.2_Missense_Mutation_p.D383N	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	383	Ser-rich.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTTCGTCATCGTGCATCATG	0.502													79	97					0	0	0	0	T	118636903	C	T	118636903	3	4	126	1	0	0	0	0	1	0	0	0	15640	884	31	1	1585	1	TAOK3	12	118636903	Missense_Mutation	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08	63880402	118636903	15214992	37	24196											
C14orf182	283551	broad.mit.edu	37	chr14	50472372	50472372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagacgaaatgtctgtgtCgtagaactgtgtgtgatctt	11	13	12	5	2	2	4	0	1	2	3	3	5	2	4	0	0	1	1	0	0	4	2			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr14:50472372C>T	ENST00000399206.1	-	1	1866	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	49										large_intestine(2)|urinary_tract(1)	3						ATGTCTGTGTCGTAGAACTGT	0.527													81	104					0	0	0	0	T	50472372	C	T	50472372	3	4	126	1	0	0	0	0	1	0	0	0	1777	884	31	1	189	1	C14orf182	14	50472372	Missense_Mutation	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08		50472372	56877168	38	24197											
NIN	51199	broad.mit.edu	37	chr14	51239789	51239789	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgtaccgtcaggatcaaGattatggaatacttcctcga	12	12	8	9	2	2	1	2	0	0	1	4	4	3	3	2	2	2	1	2	2	5	5			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr14:51239789G>C	ENST00000245441.5	-	8	881	c.691C>G	c.(691-693)Ctt>Gtt	p.L231V	NIN_ENST00000453196.1_Missense_Mutation_p.L231V|NIN_ENST00000382041.3_Missense_Mutation_p.L231V|NIN_ENST00000382043.4_Missense_Mutation_p.L231V|NIN_ENST00000324330.9_Missense_Mutation_p.L231V|NIN_ENST00000530997.2_Missense_Mutation_p.L231V|NIN_ENST00000389868.3_Missense_Mutation_p.L231V	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	231	EF-hand 4.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCAGGATCAAGATTATGGAAT	0.358			T	PDGFRB	MPD								42	49					0	0	0	0	C	51239789	G	C	51239789	3	2	126	1	0	0	0	0	1	0	0	0	10487	942	33	2	5954	2	NIN	14	51239789	Missense_Mutation	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08	767417	51239789	56109751	39	24198											
TM6SF1	53346	broad.mit.edu	37	chr15	83793513	83793513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcctggcaactggattttgCctgttcagaggtttggtaag	7	14	12	8	0	1	1	1	0	0	1	2	2	2	2	2	4	2	4	2	4	2	5			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr15:83793513C>T	ENST00000322019.9	+	7	967	c.693C>T	c.(691-693)tgC>tgT	p.C231C	TM6SF1_ENST00000379386.4_Silent_p.C234C|TM6SF1_ENST00000379390.6_Intron|TM6SF1_ENST00000565774.1_Silent_p.C231C			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	231						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGGATTTTGCCTGTTCAGAG	0.363													4	94					0	0	0	0	T	83793513	C	T	83793513	2	4	126	1	0	0	0	0	0	0	0	1	16066	747	26	4		4	TM6SF1	15	83793513	Silent	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08		83793513	18737879	40	24199											
CYLD	1540	broad.mit.edu	37	chr16	50818322	50818323	+	Frame_Shift_Ins	INS	-	-	A																															agaatattatagtgaaacccINSaagagctactgaggacagaa																										TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr16:50818322_50818323insA	ENST00000540145.1	+	12	2324_2325	c.1909_1910insA	c.(1909-1911)agafs	p.R637fs	CYLD_ENST00000427738.3_Frame_Shift_Ins_p.R637fs|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Frame_Shift_Ins_p.R637fs|CYLD_ENST00000564326.1_Frame_Shift_Ins_p.R634fs|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000398568.2_Frame_Shift_Ins_p.R634fs|CYLD_ENST00000569418.1_Frame_Shift_Ins_p.R634fs|CYLD_ENST00000568704.2_Frame_Shift_Ins_p.R452fs|CYLD_ENST00000566206.1_Frame_Shift_Ins_p.R634fs			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	637					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TAGTGAAACCCAAGAGCTACTG	0.347			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				62	48	---	---	---	---					A	50818323	-	A	50818322	7	5	126	1	0	1	1	0	0	0	0	0	4175	595	21	0	1947	0	CYLD	16	50818322	Frame_Shift_Ins	INS	-	TCGA-CN-A6UY-01A-12D-A34J-08		50818322	39536431	41	24200											
RLTPR	146206	broad.mit.edu	37	chr16	67682147	67682147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctccccccgcagctcttcGcagcggtatcccgaggctgc	4	7	11	19	4	1	0	0	0	1	0	4	1	3	0	5	2	3	5	5	2	1	2			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr16:67682147G>A	ENST00000334583.6	+	14	1592	c.1264G>A	c.(1264-1266)Gca>Aca	p.A422T	RLTPR_ENST00000545661.1_Missense_Mutation_p.A386T	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	422										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCAGCTCTTCGCAGCGGTATC	0.716													9	0					0	0	0	0	A	67682147	G	A	67682147	3	1	126	1	0	0	0	0	1	0	0	0	13479	1087	38	1	1318	1	RLTPR	16	67682147	Missense_Mutation	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08	16863825	67682147	22672606	42	24201											
MYO15A	51168	broad.mit.edu	37	chr17	18039775	18039775	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcccctaactgtggagagCgctgtggatgccaggtgagg	8	7	16	10	2	0	2	0	1	0	1	0	4	0	3	3	4	3	1	3	4	1	1			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr17:18039775C>T	ENST00000205890.5	+	14	4979	c.4641C>T	c.(4639-4641)agC>agT	p.S1547S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1547	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTGTGGAGAGCGCTGTGGATG	0.642													37	48					0	0	0	0	T	18039775	C	T	18039775	2	4	126	1	0	0	0	0	0	0	0	1	10133	767	27	1		1	MYO15A	17	18039775	Silent	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08		18039775	63155435	43	24202											
STAT3	6774	broad.mit.edu	37	chr17	40481604	40481604	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcagagaggctgccgtTgttggattcttccatgttca	6	15	11	9	1	3	1	1	0	2	1	4	3	4	2	2	2	2	5	2	2	0	6			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr17:40481604T>C	ENST00000264657.5	-	13	1513	c.1201A>G	c.(1201-1203)Aac>Gac	p.N401D	STAT3_ENST00000389272.3_Missense_Mutation_p.N303D|STAT3_ENST00000588969.1_Missense_Mutation_p.N401D|STAT3_ENST00000585517.1_Missense_Mutation_p.N401D|STAT3_ENST00000404395.3_Missense_Mutation_p.N401D	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	401					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AGGCTGCCGTTGTTGGATTCT	0.498									Hyperimmunoglobulin E Recurrent Infection Syndrome				95	98					0	0	0	0	C	40481604	T	C	40481604	3	2	126	1	0	0	0	0	1	0	0	0	15356	1812	63	5	1159	5	STAT3	17	40481604	Missense_Mutation	SNP	T	TCGA-CN-A6UY-01A-12D-A34J-08	22441829	40481604	40713606	44	24203											
AXIN2	8313	broad.mit.edu	37	chr17	63554045	63554045	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcggcacaagtccactcctCttcttcattcaaggtgggga	8	11	10	12	1	4	0	2	0	2	0	7	1	6	1	2	4	0	1	2	4	2	3			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr17:63554045C>G	ENST00000307078.5	-	2	1007	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Missense_Mutation_p.E232Q	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	232					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GTCCACTCCTCTTCTTCATTC	0.537									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				44	73					0	0	0	0	G	63554045	C	G	63554045	3	3	126	1	0	0	0	0	1	0	0	0	1241	922	32	2	1877	2	AXIN2	17	63554045	Missense_Mutation	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08	23072441	63554045	17641165	45	24204											
PTPRS	5802	broad.mit.edu	37	chr19	5265138	5265138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagcatggtggctgtcCgtgtccgctccaccaccttc	6	9	10	16	2	0	1	0	0	0	1	4	1	3	1	5	2	1	3	5	2	0	1			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr19:5265138C>T	ENST00000372412.4	-	5	682	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	PTPRS_ENST00000348075.2_Missense_Mutation_p.R150Q|PTPRS_ENST00000592099.1_Missense_Mutation_p.R150Q|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.R150Q|PTPRS_ENST00000262963.6_Missense_Mutation_p.R150Q|PTPRS_ENST00000588012.1_Missense_Mutation_p.R150Q|PTPRS_ENST00000357368.4_Missense_Mutation_p.R150Q|PTPRS_ENST00000587303.1_Missense_Mutation_p.R150Q			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	150	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGTGGCTGTCCGTGTCCGCTC	0.602													28	37					0	0	0	0	T	5265138	C	T	5265138	3	4	126	1	0	0	0	0	1	0	0	0	12893	652	23	1	5533	1	PTPRS	19	5265138	Missense_Mutation	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08		5265138	53863845	46	24205											
ZSCAN22	342945	broad.mit.edu	37	chr19	58850179	58850179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggttgtccacacaggggcGaagccccatgagtgtaagga	11	6	14	10	1	0	1	0	1	0	0	1	3	1	2	3	4	1	2	3	4	2	2	rs139283341	byFrequency	TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr19:58850179G>A	ENST00000329665.4	+	3	1110	c.963G>A	c.(961-963)gcG>gcA	p.A321A		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	321					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A321A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|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;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		ACACAGGGGCGAAGCCCCATG	0.567													79	149					0	0	0	0	A	58850179	G	A	58850179	2	1	126	1	0	0	0	0	0	0	0	1	18326	1045	37	1		1	ZSCAN22	19	58850179	Silent	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08	53585041	58850179	278804	47	24206											
SLC32A1	140679	broad.mit.edu	37	chr20	37357219	37357219	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggcggcatctgcagcgtGtccggcttcgtgcactccct	4	10	12	15	5	1	0	0	0	1	0	5	0	3	0	2	3	3	4	2	3	0	1			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr20:37357219G>A	ENST00000217420.1	+	2	1778	c.1515G>A	c.(1513-1515)gtG>gtA	p.V505V		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	505					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TCTGCAGCGTGTCCGGCTTCG	0.657													4	43					0	0	0	0	A	37357219	G	A	37357219	2	1	126	1	0	0	0	0	0	0	0	1	14653	1364	48	4		4	SLC32A1	20	37357219	Silent	SNP	G	TCGA-CN-A6UY-01A-12D-A34J-08		37357219	25668301	48	24207											
CPXCR1	53336	broad.mit.edu	37	chrX	88008757	88008757	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagatcaagatcccactcAgggaaagttgagatgaaagc	16	7	11	7	0	2	4	2	2	0	3	3	7	3	5	1	1	1	1	1	1	4	2			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chrX:88008757A>C	ENST00000276127.4	+	3	601	c.342A>C	c.(340-342)tcA>tcC	p.S114S	CPXCR1_ENST00000373111.1_Silent_p.S114S	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	114						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GATCCCACTCAGGGAAAGTTG	0.393													31	4					0	0	0	0	C	88008757	A	C	88008757	2	2	126	1	0	0	0	0	0	0	0	1	3866	175	7	5		5	CPXCR1	23	88008757	Silent	SNP	A	TCGA-CN-A6UY-01A-12D-A34J-08		88008757	67261803	49	24208											
MAGEC2	51438	broad.mit.edu	37	chrX	141291581	141291581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcctcctcctcaggacCaccaagaatcagagaagagg	13	5	8	15	0	2	3	2	0	0	3	5	5	5	4	6	2	0	0	6	2	3	0			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chrX:141291581C>A	ENST00000247452.3	-	3	540	c.193G>T	c.(193-195)Ggt>Tgt	p.G65C		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	65						cytoplasm|nucleus		p.G65R(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGGACCACCAAGAATC	0.532										HNSCC(46;0.14)			41	19					5.43694e-19	6.17415e-19	1	0	A	141291581	C	A	141291581	3	1	126	1	0	0	0	0	1	0	0	0	9250	594	21	4	932	4	MAGEC2	23	141291581	Missense_Mutation	SNP	C	TCGA-CN-A6UY-01A-12D-A34J-08	53282824	141291581	13978979	50	24209											
SKI	6497	broad.mit.edu	37	chr1	2234792	2234792	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtcccccgcagtgtcagcGagtgagaaagagctctcccc	8	7	12	14	2	2	2	1	1	1	2	4	4	3	2	4	1	2	2	4	1	1	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:2234792G>A	ENST00000378536.4	+	3	1236	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	388					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CAGTGTCAGCGAGTGAGAAAG	0.622													10	199					0	0	0	0	A	2234792	G	A	2234792	2	1	127	1	0	0	0	0	0	0	0	1	14445	1045	37	1		1	SKI	1	2234792	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08		2234792	247015829	1	24210											
DFFA	1676	broad.mit.edu	37	chr1	10523546	10523546	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcctggaggtacagctgcagGagctgcttggactgacgcac	8	7	15	11	1	0	1	0	1	0	0	0	4	0	4	1	4	5	6	1	4	1	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:10523546G>A	ENST00000377038.3	-	4	640	c.573C>T	c.(571-573)ctC>ctT	p.L191L	DFFA_ENST00000377036.2_Silent_p.L191L	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	191					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		ACAGCTGCAGGAGCTGCTTGG	0.562													7	162					0	0	0	0	A	10523546	G	A	10523546	2	1	127	1	0	0	0	0	0	0	0	1	4489	1161	41	2		2	DFFA	1	10523546	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	8288754	10523546	238727075	2	24211											
ZBTB40	9923	broad.mit.edu	37	chr1	22837748	22837748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcagagccatggaaaaatCagtcccggccattgaaatat	15	7	10	9	1	1	2	1	1	0	1	2	4	2	3	3	2	2	1	3	2	4	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:22837748C>T	ENST00000404138.1	+	11	2421	c.1910C>T	c.(1909-1911)tCa>tTa	p.S637L	ZBTB40_ENST00000374651.4_Missense_Mutation_p.S525L|ZBTB40_ENST00000375647.4_Missense_Mutation_p.S637L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	637					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ATGGAAAAATCAGTCCCGGCC	0.502													5	111					0	0	0	0	T	22837748	C	T	22837748	3	4	127	1	0	0	0	0	1	0	0	0	17637	838	29	2	1944	2	ZBTB40	1	22837748	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	12314202	22837748	226412873	3	24212											
ZBTB40	9923	broad.mit.edu	37	chr1	22838582	22838582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaagaagaagaagaggcttCcagtgacatgtgacctctgt	14	8	12	7	0	1	7	0	2	1	5	2	7	2	7	2	1	0	1	2	1	4	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:22838582C>T	ENST00000404138.1	+	12	2927	c.2416C>T	c.(2416-2418)Cca>Tca	p.P806S	ZBTB40_ENST00000374651.4_Missense_Mutation_p.P694S|ZBTB40_ENST00000375647.4_Missense_Mutation_p.P806S	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	806					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GAAGAGGCTTCCAGTGACATG	0.498													4	79					0	0	0	0	T	22838582	C	T	22838582	3	4	127	1	0	0	0	0	1	0	0	0	17637	855	30	2	2454	2	ZBTB40	1	22838582	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	834	22838582	226412039	4	24213											
HMGCL	3155	broad.mit.edu	37	chr1	24129001	24129001	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggagctagtttttctgttCagggcttgacagataaagtt	9	16	11	5	0	2	2	1	1	1	1	2	3	2	3	0	2	1	5	0	2	3	8			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:24129001C>T	ENST00000374483.4	-	10	1526	c.855G>A	c.(853-855)ctG>ctA	p.L285L	HMGCL_ENST00000374490.3_Silent_p.L310L|HMGCL_ENST00000436439.2_Silent_p.L239L			P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	310					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TTTTTCTGTTCAGGGCTTGAC	0.498													7	124					0	0	0	0	T	24129001	C	T	24129001	2	4	127	1	0	0	0	0	0	0	0	1	7279	813	29	2		2	HMGCL	1	24129001	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1290419	24129001	225121620	5	24214											
ARID1A	8289	broad.mit.edu	37	chr1	27057874	27057874	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccatcccagcctccacatCagcagtccccggctccatac	9	6	6	20	1	1	0	1	0	0	0	5	0	5	0	7	1	4	2	7	1	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:27057874C>T	ENST00000324856.7	+	3	1953	c.1582C>T	c.(1582-1584)Cag>Tag	p.Q528*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q528*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q145*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	528					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTCCACATCAGCAGTCCCC	0.617			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								15	258					0	0	0	0	T	27057874	C	T	27057874	4	4	127	1	0	0	0	0	0	1	0	0	915	827	29	2	1592	2	ARID1A	1	27057874	Nonsense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2928873	27057874	222192747	6	24215											
MECR	51102	broad.mit.edu	37	chr1	29542604	29542604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccacctgtgcaacaccttCgttccctccaacagcaggca	10	8	6	17	1	0	0	0	0	0	0	3	0	2	0	5	1	5	4	5	1	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:29542604C>T	ENST00000373791.3	-	3	463	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Missense_Mutation_p.E107K	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	107					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GCAACACCTTCGTTCCCTCCA	0.527													6	103					0	0	0	0	T	29542604	C	T	29542604	3	4	127	1	0	0	0	0	1	0	0	0	9493	893	31	1	834	1	MECR	1	29542604	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2484730	29542604	219708017	7	24216											
BAI2	576	broad.mit.edu	37	chr1	32210257	32210257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgagttacctgtctgcGccatgtatagcccaggctca	7	9	11	14	2	2	0	1	0	1	0	2	1	2	0	4	2	3	3	4	2	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:32210257G>A	ENST00000373658.3	-	5	1255	c.914C>T	c.(913-915)gCg>gTg	p.A305V	BAI2_ENST00000440175.2_Missense_Mutation_p.A2V|BAI2_ENST00000398547.1_Missense_Mutation_p.A293V|BAI2_ENST00000398556.3_Missense_Mutation_p.A308V|BAI2_ENST00000373655.2_Missense_Mutation_p.A305V|BAI2_ENST00000527361.1_Missense_Mutation_p.A305V|BAI2_ENST00000257070.4_Missense_Mutation_p.A305V|BAI2_ENST00000398538.1_Missense_Mutation_p.A293V|BAI2_ENST00000398542.1_Missense_Mutation_p.A293V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	305					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ACCTGTCTGCGCCATGTATAG	0.632													4	26					0	0	0	0	A	32210257	G	A	32210257	3	1	127	1	0	0	0	0	1	0	0	0	1303	1087	38	1	3959	1	BAI2	1	32210257	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2667653	32210257	217040364	8	24217											
CSMD2	114784	broad.mit.edu	37	chr1	34066517	34066517	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcatcacggtggaacttGagcaggacctggttggatga	9	9	15	8	1	1	2	1	2	0	0	1	5	1	5	1	5	3	4	1	5	1	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:34066517G>C	ENST00000373381.4	-	44	6980	c.6804C>G	c.(6802-6804)ctC>ctG	p.L2268L	CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373380.1_Silent_p.L1141L|CSMD2_ENST00000373377.1_Silent_p.L367L|CSMD2_ENST00000373388.2_Silent_p.L367L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2270	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTGGAACTTGAGCAGGACCT	0.582													9	172					0	0	0	0	C	34066517	G	C	34066517	2	2	127	1	0	0	0	0	0	0	0	1	3977	1277	45	2		2	CSMD2	1	34066517	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1856260	34066517	215184104	9	24218											
CYP4Z1	199974	broad.mit.edu	37	chr1	47571830	47571830	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagatgccttacaccacGatgtgcatcaaggaatgcct	12	8	9	12	1	1	1	1	0	0	1	1	3	1	2	4	1	5	1	4	1	3	1	rs151236717	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:47571830G>A	ENST00000334194.3	+	9	1101	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	366						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.T366T(1)		cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CTTACACCACGATGTGCATCA	0.522													6	150					0	0	0	0	A	47571830	G	A	47571830	2	1	127	1	0	0	0	0	0	0	0	1	4226	1045	37	1		1	CYP4Z1	1	47571830	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	13505313	47571830	201678791	10	24219											
BEND5	79656	broad.mit.edu	37	chr1	49193586	49193586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattgtattttgcttcccttCgttcttcatttttacaggat	7	21	5	8	1	2	0	1	0	1	0	4	1	3	1	1	1	2	3	1	1	3	11			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:49193586C>T	ENST00000371833.3	-	6	1324	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q	BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	413										large_intestine(5)|lung(2)|skin(1)	8						TGCTTCCCTTCGTTCTTCATT	0.373													6	84					0	0	0	0	T	49193586	C	T	49193586	3	4	127	1	0	0	0	0	1	0	0	0	1405	884	31	1	31	1	BEND5	1	49193586	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1621756	49193586	200057035	11	24220											
EPS15	2060	broad.mit.edu	37	chr1	51930972	51930972	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagctgcagaggttccactGattagcaaaggactactggt	11	10	11	9	0	1	2	1	1	0	1	2	3	2	3	1	3	4	4	1	3	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:51930972G>A	ENST00000371733.3	-	6	432	c.336C>T	c.(334-336)atC>atT	p.I112I	EPS15_ENST00000371730.2_Silent_p.I112I	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	112					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						AGGTTCCACTGATTAGCAAAG	0.388			T	MLL	ALL								5	65					0	0	0	0	A	51930972	G	A	51930972	2	1	127	1	0	0	0	0	0	0	0	1	5230	1280	45	2		2	EPS15	1	51930972	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2737386	51930972	197319649	12	24221											
JAK1	3716	broad.mit.edu	37	chr1	65349056	65349056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgacagatagaagatcacttCcacccctggctcaggggcct	10	7	10	14	1	2	3	2	0	0	3	3	4	3	3	4	3	0	1	4	3	2	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:65349056C>T	ENST00000342505.4	-	3	357	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	37	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AAGATCACTTCCACCCCTGGC	0.547			Mis		ALL								8	79					0	0	0	0	T	65349056	C	T	65349056	3	4	127	1	0	0	0	0	1	0	0	0	7990	864	30	2	3447	2	JAK1	1	65349056	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	13418084	65349056	183901565	13	24222											
DEPDC1	55635	broad.mit.edu	37	chr1	68948054	68948054	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctcttaaaaccagcactGaatggcttttgaatattttc	11	16	6	8	0	1	2	0	2	1	0	3	2	1	2	1	1	2	3	1	1	5	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:68948054G>A	ENST00000456315.2	-	8	1551	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	479					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AACCAGCACTGAATGGCTTTT	0.373													5	52					0	0	0	0	A	68948054	G	A	68948054	2	1	127	1	0	0	0	0	0	0	0	1	4476	1281	45	2		2	DEPDC1	1	68948054	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3598998	68948054	180302567	14	24223											
GBP5	115362	broad.mit.edu	37	chr1	89730405	89730405	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaactttggtctacatccttGaaagagtttttcatgaagac	13	14	7	7	0	2	4	1	2	1	2	3	4	3	4	1	1	2	1	1	1	4	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:89730405G>C	ENST00000343435.5	-	8	1649	c.1113C>G	c.(1111-1113)ttC>ttG	p.F371L	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.F371L|GBP5_ENST00000481145.1_5'UTR	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	371						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTACATCCTTGAAAGAGTTTT	0.453													4	88					0	0	0	0	C	89730405	G	C	89730405	3	2	127	1	0	0	0	0	1	0	0	0	6326	1281	45	2	667	2	GBP5	1	89730405	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	20782351	89730405	159520216	15	24224											
VCAM1	7412	broad.mit.edu	37	chr1	101190204	101190204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccaagaatacagttatttCtgtgaatccatccacaaagc	15	10	5	11	0	1	2	0	1	1	1	3	2	3	2	3	0	2	1	3	0	6	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:101190204C>T	ENST00000294728.2	+	4	787	c.686C>T	c.(685-687)tCt>tTt	p.S229F	VCAM1_ENST00000347652.2_Missense_Mutation_p.S229F|VCAM1_ENST00000370119.4_Missense_Mutation_p.S167F|VCAM1_ENST00000370115.1_Missense_Mutation_p.S229F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	229	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACAGTTATTTCTGTGAATCCA	0.413													10	143					0	0	0	0	T	101190204	C	T	101190204	3	4	127	1	0	0	0	0	1	0	0	0	17233	913	32	2	700	2	VCAM1	1	101190204	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	11459799	101190204	148060417	16	24225											
S1PR1	1901	broad.mit.edu	37	chr1	101704651	101704651	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacacgggaaagctgaatatCagcgcggacaaggagaacag	16	4	13	8	3	1	2	1	1	0	1	1	5	1	4	0	3	4	1	0	3	6	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:101704651C>T	ENST00000305352.6	+	2	486	c.111C>T	c.(109-111)atC>atT	p.I37I	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	37					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						AGCTGAATATCAGCGCGGACA	0.502											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	79					0	0	0	0	T	101704651	C	T	101704651	2	4	127	1	0	0	0	0	0	0	0	1	13878	816	29	2		2	S1PR1	1	101704651	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	514447	101704651	147545970	17	24226											
C1orf162	128346	broad.mit.edu	37	chr1	112019465	112019465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccccaacaactagccctgCaccctgtctctctaaccacc	10	7	4	20	0	2	0	0	0	2	0	3	0	2	0	6	0	6	1	6	0	4	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:112019465C>T	ENST00000343534.5	+	3	333	c.83C>T	c.(82-84)gCa>gTa	p.A28V	C1orf162_ENST00000464591.1_3'UTR|C1orf162_ENST00000369718.3_Missense_Mutation_p.A28V	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	28						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		ACTAGCCCTGCACCCTGTCTC	0.463													8	131					0	0	0	0	T	112019465	C	T	112019465	3	4	127	1	0	0	0	0	1	0	0	0	2029	710	25	4	89	4	C1orf162	1	112019465	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	10314814	112019465	137231156	18	24227											
ADORA3	140	broad.mit.edu	37	chr1	112042929	112042929	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttccgaatgatgtaaaaGatgtcaagatagatggcgca	14	11	11	5	2	1	4	1	1	0	3	2	5	2	4	1	1	0	3	1	1	5	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:112042929G>A	ENST00000241356.4	-	2	1005	c.600C>T	c.(598-600)atC>atT	p.I200I	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	200					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	TGATGTAAAAGATGTCAAGAT	0.428													6	111					0	0	0	0	A	112042929	G	A	112042929	2	1	127	1	0	0	0	0	0	0	0	1	329	932	33	2		2	ADORA3	1	112042929	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	23464	112042929	137207692	19	24228											
MAGI3	260425	broad.mit.edu	37	chr1	114196526	114196526	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccccgcctgaaccgggcaGaggtcccagccaggcctgca	7	4	12	18	2	0	2	0	1	0	1	2	2	2	2	7	3	3	2	7	3	1	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:114196526G>C	ENST00000369615.1	+	15	2577	c.2515G>C	c.(2515-2517)Gag>Cag	p.E839Q	MAGI3_ENST00000369611.4_Missense_Mutation_p.E839Q|MAGI3_ENST00000307546.9_Missense_Mutation_p.E839Q|MAGI3_ENST00000369617.4_Missense_Mutation_p.E864Q	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	864					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAACCGGGCAGAGGTCCCAGC	0.483													20	310					0	0	0	0	C	114196526	G	C	114196526	3	2	127	1	0	0	0	0	1	0	0	0	9261	943	33	2	2573	2	MAGI3	1	114196526	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2153597	114196526	135054095	20	24229											
NUDT17	200035	broad.mit.edu	37	chr1	145586858	145586858	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttggttccagtgctgactCtctctttgtcctctgccatg	4	16	8	13	0	3	1	0	1	3	0	6	1	5	1	3	1	2	2	3	1	0	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:145586858C>G	ENST00000334513.5	-	7	841	c.830G>C	c.(829-831)aGa>aCa	p.R277T		NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	277							hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGTGCTGACTCTCTCTTTGTC	0.547													14	210					0	0	0	0	G	145586858	C	G	145586858	3	3	127	1	0	0	0	0	1	0	0	0	10805	913	32	2	164	2	NUDT17	1	145586858	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	31390332	145586858	103663763	21	24230											
OTUD7B	56957	broad.mit.edu	37	chr1	149916876	149916876	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtggaactgctgccaactGactccttgtctgagtctcca	7	12	10	12	0	2	2	0	2	2	0	4	3	3	3	3	2	4	1	3	2	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:149916876G>C	ENST00000369135.3	-	12	1706	c.1412C>G	c.(1411-1413)tCa>tGa	p.S471*		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	471					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCTGCCAACTGACTCCTTGTC	0.602													6	103					0	0	0	0	C	149916876	G	C	149916876	4	2	127	1	0	0	0	0	0	1	0	0	11390	1294	45	2	1123	2	OTUD7B	1	149916876	Nonsense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	4330018	149916876	99333745	22	24231											
TCHH	7062	broad.mit.edu	37	chr1	152080837	152080837	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcgtcttcgcggaattttCtgtcgcgctcctggcgcagc	3	13	12	13	6	2	0	0	0	2	0	6	1	3	1	1	2	1	3	1	2	1	4	rs71585886		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:152080837C>G	ENST00000368804.1	-	2	4855	c.4856G>C	c.(4855-4857)aGa>aCa	p.R1619T		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1619	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGGAATTTTCTGTCGCGCTC	0.582													15	171					0	0	0	0	G	152080837	C	G	152080837	3	3	127	1	0	0	0	0	1	0	0	0	15794	913	32	2	979	2	TCHH	1	152080837	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2163961	152080837	97169784	23	24232											
TCHH	7062	broad.mit.edu	37	chr1	152083910	152083910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcgctgctcgagcctctcttCctgctcgcgcttcagccgct	2	12	9	18	5	2	0	1	0	1	0	7	1	3	0	3	0	4	5	3	0	0	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:152083910C>T	ENST00000368804.1	-	2	1782	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	595	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCTCTCTTCCTGCTCGCGC	0.682													6	99					0	0	0	0	T	152083910	C	T	152083910	3	4	127	1	0	0	0	0	1	0	0	0	15794	864	30	2	4052	2	TCHH	1	152083910	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3073	152083910	97166711	24	24233											
FLG	2312	broad.mit.edu	37	chr1	152277637	152277637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttgactgctcctgaacaGatccacgatggtttctggaa	9	11	10	11	1	1	3	0	2	1	1	3	5	3	4	3	2	2	2	3	2	2	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:152277637G>A	ENST00000368799.1	-	3	9760	c.9725C>T	c.(9724-9726)tCt>tTt	p.S3242F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3242	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGAACAGATCCACGATG	0.592									Ichthyosis				24	428					0	0	0	0	A	152277637	G	A	152277637	3	1	127	1	0	0	0	0	1	0	0	0	5967	942	33	2	2464	2	FLG	1	152277637	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	193727	152277637	96972984	25	24234											
FLG	2312	broad.mit.edu	37	chr1	152283664	152283664	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcatggtgacgtgaccctGagtgcctggagccgtctcct	5	11	12	13	2	2	3	1	3	1	0	3	4	2	4	4	2	2	0	4	2	0	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:152283664G>C	ENST00000368799.1	-	3	3733	c.3698C>G	c.(3697-3699)tCa>tGa	p.S1233*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1233	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGTGACCCTGAGTGCCTGGA	0.567									Ichthyosis				5	458					0	0	0	0	C	152283664	G	C	152283664	4	2	127	1	0	0	0	0	0	1	0	0	5967	1294	45	2	8491	2	FLG	1	152283664	Nonsense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	6027	152283664	96966957	26	24235											
KIAA0907	22889	broad.mit.edu	37	chr1	155885709	155885710	+	Frame_Shift_Ins	INS	-	-	T																															ccattcctttcatcggactcINStgtttttattccagtcactg																										TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:155885709_155885710insT	ENST00000368320.3	-	13	1624_1625	c.1599_1600insA	c.(1597-1602)acagtcfs	p.V534fs	KIAA0907_ENST00000368321.3_Frame_Shift_Ins_p.V534fs			Q7Z7F0	K0907_HUMAN	KIAA0907	534										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TCATCGGACTCTGTTTTTATTC	0.426													56	428	---	---	---	---					T	155885710	-	T	155885709	7	5	127	1	0	1	1	0	0	0	0	0	8250	922	32	0	252	0	KIAA0907	1	155885709	Frame_Shift_Ins	INS	-	TCGA-CN-A6V1-01A-12D-A34J-08	3602045	155885709	93364912	27	24236											
IQGAP3	128239	broad.mit.edu	37	chr1	156502888	156502888	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgtgtgcccatctgcagcGatgctctcacctgaggtgtg	5	11	12	13	2	2	1	1	1	2	0	4	2	3	1	3	1	4	2	3	1	0	0	rs139057334		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:156502888G>A	ENST00000361170.2	-	32	3997	c.3987C>T	c.(3985-3987)atC>atT	p.I1329I		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1329					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATCTGCAGCGATGCTCTCAC	0.547													17	148					0	0	0	0	A	156502888	G	A	156502888	2	1	127	1	0	0	0	0	0	0	0	1	7869	1048	37	1		1	IQGAP3	1	156502888	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	617179	156502888	92747733	28	24237											
FCGR2A	2212	broad.mit.edu	37	chr1	161479635	161479635	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtgctccagacccctcaCctggagttccaggagggaga	8	7	13	13	0	1	2	1	0	0	2	3	5	3	4	5	4	1	2	5	4	0	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:161479635C>T	ENST00000271450.6	+	4	428	c.390C>T	c.(388-390)caC>caT	p.H130H	FCGR2A_ENST00000367972.4_Silent_p.H129H|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	130	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGACCCCTCACCTGGAGTTCC	0.468													11	130					0	0	0	0	T	161479635	C	T	161479635	2	4	127	1	0	0	0	0	0	0	0	1	5826	506	18	4		4	FCGR2A	1	161479635	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	4976747	161479635	87770986	29	24238											
RFWD2	64326	broad.mit.edu	37	chr1	176012350	176012350	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatcagaacctgaagccaaGagtttaggatccatcaaatt	15	10	7	9	0	3	3	3	1	0	2	4	4	4	4	3	1	2	1	3	1	5	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:176012350G>C	ENST00000367669.3	-	14	2098	c.1584C>G	c.(1582-1584)ctC>ctG	p.L528L	RFWD2_ENST00000308769.8_Silent_p.L504L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	528					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTGAAGCCAAGAGTTTAGGAT	0.438													5	172					0	0	0	0	C	176012350	G	C	176012350	2	2	127	1	0	0	0	0	0	0	0	1	13342	929	33	2		2	RFWD2	1	176012350	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	14532715	176012350	73238271	30	24239											
DHX9	1660	broad.mit.edu	37	chr1	182836128	182836128	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaattagaagcaggcattCgaggaatcagtcatgtaatt	16	10	10	5	1	2	1	2	0	0	1	3	4	2	2	0	2	1	3	0	2	6	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:182836128C>T	ENST00000367549.3	+	14	1617	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	503	Helicase ATP-binding.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGCAGGCATTCGAGGAATCAG	0.308													6	156					0	0	0	0	T	182836128	C	T	182836128	4	4	127	1	0	0	0	0	0	1	0	0	4553	876	31	1	1557	1	DHX9	1	182836128	Nonsense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	6823778	182836128	66414493	31	24240											
DHX9	1660	broad.mit.edu	37	chr1	182856289	182856289	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggatatagaaggggaggttCtagttacagtggtggaggct	10	10	17	4	1	1	1	0	0	1	1	1	4	1	4	0	7	1	3	0	7	5	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:182856289C>G	ENST00000367549.3	+	28	3643	c.3533C>G	c.(3532-3534)tCt>tGt	p.S1178C	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1178	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.S1178F(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGGGGAGGTTCTAGTTACAGT	0.532													6	131					0	0	0	0	G	182856289	C	G	182856289	3	3	127	1	0	0	0	0	1	0	0	0	4553	913	32	2	3639	2	DHX9	1	182856289	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	20161	182856289	66394332	32	24241											
HMCN1	83872	broad.mit.edu	37	chr1	185984368	185984368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttattaaactggaatgtGaaacacggggacttccaatg	13	10	10	8	1	0	1	0	1	0	0	1	3	1	3	2	3	2	0	2	3	6	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:185984368G>A	ENST00000271588.4	+	31	4937	c.4708G>A	c.(4708-4710)Gaa>Aaa	p.E1570K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E1570K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1570	Ig-like C2-type 13.			E -> K (in Ref. 1).	response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTGGAATGTGAAACACGGGG	0.398													5	85					0	0	0	0	A	185984368	G	A	185984368	3	1	127	1	0	0	0	0	1	0	0	0	7270	1291	45	2	4830	2	HMCN1	1	185984368	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3128079	185984368	63266253	33	24242											
NEK7	140609	broad.mit.edu	37	chr1	198233296	198233296	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaaatattatgcatcattCattgaagataatgaactaaa	20	13	4	4	0	2	3	2	2	0	1	2	3	2	3	0	0	2	1	0	0	9	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:198233296C>T	ENST00000367385.4	+	5	645	c.303C>T	c.(301-303)ttC>ttT	p.F101F	NEK7_ENST00000538004.1_Silent_p.F101F	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	101	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						ATGCATCATTCATTGAAGATA	0.313													10	176					0	0	0	0	T	198233296	C	T	198233296	2	4	127	1	0	0	0	0	0	0	0	1	10399	825	29	2		2	NEK7	1	198233296	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	12248928	198233296	51017325	34	24243											
GOLT1A	127845	broad.mit.edu	37	chr1	204170841	204170841	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgataaccacacccccCaggaggaagctggttccctt	11	6	9	15	1	0	0	0	0	0	0	1	3	1	2	5	3	3	3	5	3	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:204170841C>T	ENST00000308302.3	-	3	401	c.216G>A	c.(214-216)ctG>ctA	p.L72L		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	72					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CCACACCCCCCAGGAGGAAGC	0.537													6	129					0	0	0	0	T	204170841	C	T	204170841	2	4	127	1	0	0	0	0	0	0	0	1	6618	581	21	4		4	GOLT1A	1	204170841	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	5937545	204170841	45079780	35	24244											
CNTN2	6900	broad.mit.edu	37	chr1	205027780	205027780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttgccctgtaacccacctgCccactacccaggtgagtcca	8	8	8	17	0	0	1	0	1	0	0	1	1	1	1	6	1	4	2	6	1	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:205027780C>T	ENST00000331830.4	+	5	760	c.476C>T	c.(475-477)gCc>gTc	p.A159V		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	159	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACCCACCTGCCCACTACCCA	0.577													3	24					0	0	0	0	T	205027780	C	T	205027780	3	4	127	1	0	0	0	0	1	0	0	0	3671	739	26	4	490	4	CNTN2	1	205027780	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	856939	205027780	44222841	36	24245											
SMYD2	56950	broad.mit.edu	37	chr1	214488132	214488132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attggcccatgcacaagctgGaatgttctcccatggttgtt	8	13	10	10	0	1	0	0	0	1	0	2	1	1	1	2	3	2	5	2	3	2	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:214488132G>A	ENST00000366957.5	+	3	287	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.E89K	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	89					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		GCACAAGCTGGAATGTTCTCC	0.423													4	105					0	0	0	0	A	214488132	G	A	214488132	3	1	127	1	0	0	0	0	1	0	0	0	14910	1175	41	2	275	2	SMYD2	1	214488132	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	9460352	214488132	34762489	37	24246											
CAPN2	824	broad.mit.edu	37	chr1	223943283	223943283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcctggtggggctcattCagaagcaccgacggcggcag	7	7	14	13	3	2	1	2	0	0	1	3	2	3	1	3	5	1	3	3	5	1	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:223943283C>G	ENST00000295006.5	+	10	1546	c.1237C>G	c.(1237-1239)Cag>Gag	p.Q413E	CAPN2_ENST00000433674.2_Missense_Mutation_p.Q335E	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	413	Domain III.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GGGGCTCATTCAGAAGCACCG	0.607													4	35					0	0	0	0	G	223943283	C	G	223943283	3	3	127	1	0	0	0	0	1	0	0	0	2652	827	29	2	1282	2	CAPN2	1	223943283	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	9455151	223943283	25307338	38	24247											
PYCR2	29920	broad.mit.edu	37	chr1	226108948	226108948	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaactgcattgatgagcaGagagcggaagcccccactct	11	7	10	13	1	2	3	1	2	1	1	2	5	2	4	2	1	5	2	2	1	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:226108948G>A	ENST00000343818.6	-	6	905	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Silent_p.L179L	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	253					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	TTGATGAGCAGAGAGCGGAAG	0.602													5	41					0	0	0	0	A	226108948	G	A	226108948	2	1	127	1	0	0	0	0	0	0	0	1	12938	933	33	2		2	PYCR2	1	226108948	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2165665	226108948	23141673	39	24248											
NUP133	55746	broad.mit.edu	37	chr1	229633923	229633923	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaaattccaaaaagagaaGaaacttttcgaccaattcct	19	10	4	8	1	0	2	0	0	0	2	3	4	2	2	3	0	1	0	3	0	7	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:229633923G>C	ENST00000261396.3	-	6	870	c.779C>G	c.(778-780)tCt>tGt	p.S260C	NUP133_ENST00000537506.1_Missense_Mutation_p.S244C|NUP133_ENST00000366679.1_Missense_Mutation_p.S260C	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	260					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.S260F(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AAAAAGAGAAGAAACTTTTCG	0.353													5	88					0	0	0	0	C	229633923	G	C	229633923	3	2	127	1	0	0	0	0	1	0	0	0	10825	942	33	2	2775	2	NUP133	1	229633923	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3524975	229633923	19616698	40	24249											
OR2M3	127062	broad.mit.edu	37	chr1	248366390	248366390	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcaagggagaattcgacCttcaactccgacttcatcct	11	10	8	12	2	2	1	2	0	0	1	5	4	4	1	3	2	1	1	3	2	3	3	rs139852822	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr1:248366390C>T	ENST00000456743.1	+	1	59	c.21C>T	c.(19-21)acC>acT	p.T7T		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGAATTCGACCTTCAACTCCG	0.448													15	202					0	0	0	0	T	248366390	C	T	248366390	2	4	127	1	0	0	0	0	0	0	0	1	11082	668	24	4		4	OR2M3	1	248366390	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	18732467	248366390	884231	41	24250											
ATAD2B	54454	broad.mit.edu	37	chr2	23980425	23980425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtttctggtttttcttttGactggtcctccagaagaatc	8	17	8	8	0	2	3	0	1	2	2	5	3	4	3	2	2	0	2	2	2	3	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:23980425G>A	ENST00000238789.5	-	25	4284	c.3941C>T	c.(3940-3942)tCa>tTa	p.S1314L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1314							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTTCTTTTGACTGGTCCTC	0.393													10	200					0	0	0	0	A	23980425	G	A	23980425	3	1	127	1	0	0	0	0	1	0	0	0	1076	1294	45	2	451	2	ATAD2B	2	23980425	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08		23980425	219218948	42	24251											
GPR113	165082	broad.mit.edu	37	chr2	26533860	26533860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccagcattccccctccctCaggtattgcccttgaggtag	8	10	8	15	0	1	1	1	1	0	0	3	1	3	1	5	2	3	3	5	2	3	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:26533860C>T	ENST00000333478.6	-	8	2721	c.2139G>A	c.(2137-2139)ctG>ctA	p.L713L	GPR113_ENST00000541401.1_Silent_p.L515L|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.L843L|GPR113_ENST00000311519.1_Silent_p.L912L	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	912	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCCTCCCTCAGGTATTGCC	0.612													3	28					0	0	0	0	T	26533860	C	T	26533860	2	4	127	1	0	0	0	0	0	0	0	1	6679	813	29	2		2	GPR113	2	26533860	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2553435	26533860	216665513	43	24252											
LBH	81606	broad.mit.edu	37	chr2	30457343	30457343	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccatggaggagatcggcctCagcccccgcaaggatggcct	8	5	13	15	2	1	1	1	0	0	1	2	4	1	3	5	5	1	1	5	5	1	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:30457343C>T	ENST00000395323.3	+	2	307	c.99C>T	c.(97-99)ctC>ctT	p.L33L	LBH_ENST00000406087.1_Silent_p.L33L|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000401506.1_Silent_p.L39L|LBH_ENST00000407930.2_Silent_p.L16L|LBH_ENST00000404397.1_Silent_p.L33L	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	33					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					AGATCGGCCTCAGCCCCCGCA	0.557													6	76					0	0	0	0	T	30457343	C	T	30457343	2	4	127	1	0	0	0	0	0	0	0	1	8703	813	29	2		2	LBH	2	30457343	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3923483	30457343	212742030	44	24253											
VRK2	7444	broad.mit.edu	37	chr2	58386584	58386584	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatacacaattcccaaactCattttatgagcctcatcaag	14	12	3	12	0	3	1	3	1	0	0	4	1	4	1	2	0	3	0	2	0	6	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:58386584C>G	ENST00000435505.2	+	16	2028	c.1283C>G	c.(1282-1284)tCa>tGa	p.S428*	FANCL_ENST00000402135.3_3'UTR|VRK2_ENST00000412104.2_3'UTR|FANCL_ENST00000403295.3_3'UTR|VRK2_ENST00000417641.2_3'UTR|VRK2_ENST00000440705.2_Nonsense_Mutation_p.S405*|VRK2_ENST00000340157.4_Nonsense_Mutation_p.S428*|FANCL_ENST00000233741.4_3'UTR			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	428						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TTCCCAAACTCATTTTATGAG	0.378													7	86					0	0	0	0	G	58386584	C	G	58386584	4	3	127	1	0	0	0	0	0	1	0	0	17316	838	29	2	1342	2	VRK2	2	58386584	Nonsense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	27929241	58386584	184812789	45	24254											
C2orf42	54980	broad.mit.edu	37	chr2	70406677	70406677	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttaccagatacttcatcCtttctcctcttctttgactt	6	19	2	14	0	5	2	1	1	4	1	7	2	6	2	3	0	2	0	3	0	2	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:70406677C>T	ENST00000264434.2	-	4	1300	c.921G>A	c.(919-921)aaG>aaA	p.K307K	C2orf42_ENST00000420306.1_Silent_p.K307K	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	307										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						ATACTTCATCCTTTCTCCTCT	0.393													8	90					0	0	0	0	T	70406677	C	T	70406677	2	4	127	1	0	0	0	0	0	0	0	1	2186	680	24	4		4	C2orf42	2	70406677	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	12020093	70406677	172792696	46	24255											
SPR	6697	broad.mit.edu	37	chr2	73115471	73115471	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggatgtgtccaaaggcttCgtggacctgagtgactccac	8	9	14	10	1	0	2	0	2	0	0	3	4	2	4	3	4	0	1	3	4	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:73115471C>T	ENST00000234454.5	+	2	406	c.333C>T	c.(331-333)ttC>ttT	p.F111F	SPR_ENST00000498749.1_Intron	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	111					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						CCAAAGGCTTCGTGGACCTGA	0.552											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	119					0	0	0	0	T	73115471	C	T	73115471	2	4	127	1	0	0	0	0	0	0	0	1	15181	883	31	1		1	SPR	2	73115471	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2708794	73115471	170083902	47	24256											
CCT7	10574	broad.mit.edu	37	chr2	73476281	73476281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtgctggccgagtacctGaggaggatctgaagaggaca	10	8	15	8	1	2	3	0	2	2	1	2	7	2	6	2	4	2	2	2	4	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:73476281G>A	ENST00000539919.1	+	9	1185	c.814G>A	c.(814-816)Gag>Aag	p.E272K	CCT7_ENST00000538797.1_Missense_Mutation_p.E188K|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000398422.2_Missense_Mutation_p.E112K|CCT7_ENST00000258091.5_Missense_Mutation_p.E316K|CCT7_ENST00000540468.1_Missense_Mutation_p.E229K|CCT7_ENST00000537131.1_Missense_Mutation_p.E216K	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	316					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CCGAGTACCTGAGGAGGATCT	0.517													4	65					0	0	0	0	A	73476281	G	A	73476281	3	1	127	1	0	0	0	0	1	0	0	0	2988	1291	45	2	976	2	CCT7	2	73476281	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	360810	73476281	169723092	48	24257											
EIF2AK3	9451	broad.mit.edu	37	chr2	88885506	88885506	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgttgtaatgtgggttgtcGaggaatctgactgtaatctg	8	16	13	4	1	2	1	0	1	2	0	3	3	2	2	0	2	0	4	0	2	3	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:88885506G>A	ENST00000303236.3	-	9	1804	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L	EIF2AK3_ENST00000419748.1_Silent_p.L350L	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	501					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GTGGGTTGTCGAGGAATCTGA	0.353													13	149					0	0	0	0	A	88885506	G	A	88885506	2	1	127	1	0	0	0	0	0	0	0	1	5034	1045	37	1		1	EIF2AK3	2	88885506	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	15409225	88885506	154313867	49	24258											
EIF2AK3	9451	broad.mit.edu	37	chr2	88913261	88913261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctctggtttgctaaggctgGatgacaccaaggaaccggat	10	9	12	10	1	1	1	0	1	1	0	1	4	1	4	3	5	2	3	3	5	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:88913261G>A	ENST00000303236.3	-	2	720	c.419C>T	c.(418-420)tCc>tTc	p.S140F	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	140					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GCTAAGGCTGGATGACACCAA	0.398													5	125					0	0	0	0	A	88913261	G	A	88913261	3	1	127	1	0	0	0	0	1	0	0	0	5034	1174	41	2	2995	2	EIF2AK3	2	88913261	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	27755	88913261	154286112	50	24259											
CNNM3	26505	broad.mit.edu	37	chr2	97490929	97490929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgagatcctggacgagtctGaagactaccgtgagtccaga	11	7	12	11	3	1	5	0	2	1	3	3	8	3	6	4	1	1	0	4	1	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:97490929G>A	ENST00000305510.3	+	2	1388	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	454					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GGACGAGTCTGAAGACTACCG	0.607													3	34					0	0	0	0	A	97490929	G	A	97490929	3	1	127	1	0	0	0	0	1	0	0	0	3644	1291	45	2	1366	2	CNNM3	2	97490929	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	8577668	97490929	145708444	51	24260											
AFF3	3899	broad.mit.edu	37	chr2	100623823	100623823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtttgggaactccaacgaGatgactctgattggatctat	11	12	11	7	1	2	3	0	2	2	1	3	6	3	5	1	3	2	1	1	3	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:100623823G>A	ENST00000317233.4	-	5	509	c.274C>T	c.(274-276)Ctc>Ttc	p.L92F	AFF3_ENST00000409236.1_Missense_Mutation_p.L92F|AFF3_ENST00000356421.2_Missense_Mutation_p.L117F|AFF3_ENST00000409579.1_Missense_Mutation_p.L117F	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	92					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACTCCAACGAGATGACTCTGA	0.443													4	101					0	0	0	0	A	100623823	G	A	100623823	3	1	127	1	0	0	0	0	1	0	0	0	358	942	33	2	3486	2	AFF3	2	100623823	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3132894	100623823	142575550	52	24261											
EPB41L5	57669	broad.mit.edu	37	chr2	120885271	120885271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttccattgcagcattcctCtgaatattgatttgctgaat	10	17	6	8	0	1	3	0	3	1	0	3	3	3	3	2	0	3	3	2	0	3	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:120885271C>T	ENST00000263713.5	+	17	1559	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	EPB41L5_ENST00000443902.2_Silent_p.L449L|EPB41L5_ENST00000452780.1_Silent_p.L449L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	449						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CAGCATTCCTCTGAATATTGA	0.373													8	189					0	0	0	0	T	120885271	C	T	120885271	2	4	127	1	0	0	0	0	0	0	0	1	5195	912	32	2		2	EPB41L5	2	120885271	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	20261448	120885271	122314102	53	24262											
IMP4	92856	broad.mit.edu	37	chr2	131102966	131102966	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caggtgtgaccagccacgtgGatgatgaataccgatgggca	11	7	14	9	2	0	3	0	3	0	0	0	5	0	4	3	3	2	1	3	3	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:131102966G>C	ENST00000259239.3	+	4	922	c.214G>C	c.(214-216)Gat>Cat	p.D72H	IMP4_ENST00000409935.1_Missense_Mutation_p.D72H	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	72					rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					CAGCCACGTGGATGATGAATA	0.547													6	36					0	0	0	0	C	131102966	G	C	131102966	3	2	127	1	0	0	0	0	1	0	0	0	7773	1174	41	2	228	2	IMP4	2	131102966	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	10217695	131102966	112096407	54	24263											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135908057	135908057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagagtgcctgtctgctctCagatatggagtcttttaagg	8	13	12	8	0	3	2	1	0	3	2	4	3	3	3	1	2	2	2	1	2	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:135908057C>T	ENST00000264158.8	+	18	2085	c.2042C>T	c.(2041-2043)tCa>tTa	p.S681L	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S681L|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S637L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	681						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TGTCTGCTCTCAGATATGGAG	0.468													6	70					0	0	0	0	T	135908057	C	T	135908057	3	4	127	1	0	0	0	0	1	0	0	0	13017	838	29	2	2112	2	RAB3GAP1	2	135908057	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	4805091	135908057	107291316	55	24264											
RIF1	55183	broad.mit.edu	37	chr2	152301876	152301876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagtaaatcaaggtgatGccttagaacataattttagt	16	13	8	4	0	1	3	1	2	0	1	1	3	1	3	1	1	2	1	1	1	8	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:152301876G>A	ENST00000243326.4	+	18	2494	c.2011G>A	c.(2011-2013)Gcc>Acc	p.A671T	RIF1_ENST00000430328.2_Missense_Mutation_p.A671T|RIF1_ENST00000453091.2_Missense_Mutation_p.A671T|RIF1_ENST00000444746.2_Missense_Mutation_p.A671T|RIF1_ENST00000428287.2_Missense_Mutation_p.A671T			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	671					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCAAGGTGATGCCTTAGAACA	0.313													6	63					0	0	0	0	A	152301876	G	A	152301876	3	1	127	1	0	0	0	0	1	0	0	0	13442	1319	46	4	2081	4	RIF1	2	152301876	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	16393819	152301876	90897497	56	24265											
TANC1	85461	broad.mit.edu	37	chr2	160085351	160085351	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttccaaggctctcgaattGaagcccaagtcctatgaagc	11	9	9	12	1	1	2	0	2	1	0	4	3	3	2	3	1	2	2	3	1	6	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:160085351G>C	ENST00000263635.6	+	26	4332	c.4095G>C	c.(4093-4095)ttG>ttC	p.L1365F	TANC1_ENST00000454300.1_Missense_Mutation_p.L1259F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1365						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTCTCGAATTGAAGCCCAAGT	0.468													17	249					0	0	0	0	C	160085351	G	C	160085351	3	2	127	1	0	0	0	0	1	0	0	0	15635	1281	45	2	4189	2	TANC1	2	160085351	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	7783475	160085351	83114022	57	24266											
ITGB6	3694	broad.mit.edu	37	chr2	160968678	160968678	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acattcattttctccttgcaGagagcaggaaacagaaccat	14	10	7	10	0	2	2	1	0	1	2	3	4	2	3	2	1	4	2	2	1	2	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:160968678G>C	ENST00000283249.2	-	13	2251	c.2014C>G	c.(2014-2016)Ctg>Gtg	p.L672V	ITGB6_ENST00000428609.2_Missense_Mutation_p.L630V|ITGB6_ENST00000409872.1_Missense_Mutation_p.L672V|ITGB6_ENST00000409967.2_Missense_Mutation_p.L565V			P18564	ITB6_HUMAN	integrin, beta 6	672					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCTCCTTGCAGAGAGCAGGAA	0.348													5	122					0	0	0	0	C	160968678	G	C	160968678	3	2	127	1	0	0	0	0	1	0	0	0	7952	933	33	2	364	2	ITGB6	2	160968678	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	883327	160968678	82230695	58	24267											
FIGN	55137	broad.mit.edu	37	chr2	164467396	164467396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagaaagctttccttttgaGagaacttgctgaactgtttg	10	15	10	6	0	0	4	0	2	0	2	1	5	1	4	1	0	4	4	1	0	4	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:164467396G>A	ENST00000333129.3	-	3	1260	c.946C>T	c.(946-948)Ctc>Ttc	p.L316F	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	316						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TTCCTTTTGAGAGAACTTGCT	0.502													5	104					0	0	0	0	A	164467396	G	A	164467396	3	1	127	1	0	0	0	0	1	0	0	0	5936	942	33	2	1337	2	FIGN	2	164467396	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3498718	164467396	78731977	59	24268											
SCN2A	6326	broad.mit.edu	37	chr2	166210926	166210926	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgaagatctaaataataaAaaagacagctgtatttccaa	19	11	5	6	0	1	3	0	1	1	2	2	3	2	3	1	0	1	2	1	0	9	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:166210926A>G	ENST00000375437.2	+	17	3434	c.3144A>G	c.(3142-3144)aaA>aaG	p.K1048K	SCN2A_ENST00000375427.2_Silent_p.K1048K|SCN2A_ENST00000357398.3_Silent_p.K1048K|SCN2A_ENST00000283256.6_Silent_p.K1048K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1048					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TAAATAATAAAAAAGACAGCT	0.343													7	77					0	0	0	0	G	166210926	A	G	166210926	2	3	127	1	0	0	0	0	0	0	0	1	14003	11	1	5		5	SCN2A	2	166210926	Silent	SNP	A	TCGA-CN-A6V1-01A-12D-A34J-08	1743530	166210926	76988447	60	24269											
SCN1A	6323	broad.mit.edu	37	chr2	166859020	166859020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacccaaatcctacattatCaaagtttactttcacatttt	14	16	1	10	0	2	0	2	0	0	0	3	0	3	0	2	0	3	1	2	0	6	8			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:166859020C>T	ENST00000423058.2	-	21	4263	c.4246G>A	c.(4246-4248)Gat>Aat	p.D1416N	SCN1A_ENST00000303395.4_Missense_Mutation_p.D1416N|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D1388N|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1405N	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1416						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCTACATTATCAAAGTTTACT	0.308													4	62					0	0	0	0	T	166859020	C	T	166859020	3	4	127	1	0	0	0	0	1	0	0	0	14001	826	29	2	1807	2	SCN1A	2	166859020	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	648094	166859020	76340353	61	24270											
SCN1A	6323	broad.mit.edu	37	chr2	166894586	166894586	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccccacggaattgccgatGatctttattagcatatttaa	11	13	7	10	2	1	1	0	1	1	0	1	3	1	2	3	1	2	1	3	1	5	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:166894586G>A	ENST00000423058.2	-	15	2663	c.2646C>T	c.(2644-2646)atC>atT	p.I882I	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Silent_p.I882I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.I854I|SCN1A_ENST00000375405.3_Silent_p.I871I|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	882						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATTGCCGATGATCTTTATTA	0.403													6	118					0	0	0	0	A	166894586	G	A	166894586	2	1	127	1	0	0	0	0	0	0	0	1	14001	1280	45	2		2	SCN1A	2	166894586	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	35566	166894586	76304787	62	24271											
TLK1	9874	broad.mit.edu	37	chr2	171902835	171902835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaagtttcctttgcctttCaatatcttccctttgctgat	7	19	5	10	0	2	2	1	1	1	1	4	2	4	2	3	0	2	2	3	0	4	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:171902835C>T	ENST00000442919.2	-	11	1489	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	TLK1_ENST00000434911.2_Missense_Mutation_p.E244K|TLK1_ENST00000521943.1_Missense_Mutation_p.E292K|TLK1_ENST00000360843.3_Missense_Mutation_p.E361K|TLK1_ENST00000431350.2_Missense_Mutation_p.E340K	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	340					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTTTGCCTTTCAATATCTTCC	0.378													7	115					0	0	0	0	T	171902835	C	T	171902835	3	4	127	1	0	0	0	0	1	0	0	0	16037	835	29	2	1326	2	TLK1	2	171902835	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	5008249	171902835	71296538	63	24272											
TTN	7273	broad.mit.edu	37	chr2	179401824	179401824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagacaccaattgccattCagccccctccttggcctcac	9	9	6	17	0	2	2	2	1	0	1	3	2	3	2	6	1	2	0	6	1	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:179401824C>T	ENST00000589042.1	-	356	100236	c.100012G>A	c.(100012-100014)Gaa>Aaa	p.E33338K	TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24273K|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E30770K|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24398K|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E31697K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24465K|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31697	Ig-like 146.						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)			AATTGCCATTCAGCCCCCTCC	0.507													7	55					0	0	0	0	T	179401824	C	T	179401824	3	4	127	1	0	0	0	0	1	0	0	0	16831	835	29	2	7995	2	TTN	2	179401824	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	7498989	179401824	63797549	64	24273											
TTN	7273	broad.mit.edu	37	chr2	179414070	179414070	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttacccatcttgtgcttttCttttctcttctttcaaggat	5	22	4	10	0	5	0	1	0	4	0	6	1	5	1	1	1	2	1	1	1	2	9			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:179414070C>G	ENST00000589042.1	-	339	92507	c.92283G>C	c.(92281-92283)aaG>aaC	p.K30761N	TTN_ENST00000460472.2_Missense_Mutation_p.K21696N|TTN_ENST00000342992.6_Missense_Mutation_p.K28193N|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K21821N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K29120N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K21888N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29120	Fibronectin type-III 124.						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)			TTGTGCTTTTCTTTTCTCTTC	0.418													8	103					0	0	0	0	G	179414070	C	G	179414070	3	3	127	1	0	0	0	0	1	0	0	0	16831	912	32	2	15792	2	TTN	2	179414070	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	12246	179414070	63785303	65	24274											
TTN	7273	broad.mit.edu	37	chr2	179444088	179444088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttagccaagtagcacaaatCaggtagaccctttaagtcaa	15	10	7	9	0	2	1	2	0	0	1	2	1	2	1	2	1	2	3	2	1	7	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:179444088C>T	ENST00000589042.1	-	320	67893	c.67669G>A	c.(67669-67671)Gat>Aat	p.D22557N	TTN_ENST00000460472.2_Missense_Mutation_p.D13492N|TTN_ENST00000342992.6_Missense_Mutation_p.D19989N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13617N|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D20916N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13684N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20916	Fibronectin type-III 63.						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)			TAGCACAAATCAGGTAGACCC	0.413													5	57					0	0	0	0	T	179444088	C	T	179444088	3	4	127	1	0	0	0	0	1	0	0	0	16831	826	29	2	40482	2	TTN	2	179444088	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	30018	179444088	63755285	66	24275											
TTN	7273	broad.mit.edu	37	chr2	179475984	179475984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgtcatgagtctccaggtCaattgttggcttgcctgtaa	9	14	10	8	0	3	1	2	1	1	0	4	1	3	1	2	2	1	3	2	2	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:179475984C>G	ENST00000589042.1	-	270	51096	c.50872G>C	c.(50872-50874)Gac>Cac	p.D16958H	TTN_ENST00000460472.2_Missense_Mutation_p.D7893H|TTN_ENST00000342992.6_Missense_Mutation_p.D14390H|TTN_ENST00000359218.5_Missense_Mutation_p.D8018H|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D15317H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D8085H|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15317	Fibronectin type-III 23.						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)			GTCTCCAGGTCAATTGTTGGC	0.353													5	36					0	0	0	0	G	179475984	C	G	179475984	3	3	127	1	0	0	0	0	1	0	0	0	16831	826	29	2	57193	2	TTN	2	179475984	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	31896	179475984	63723389	67	24276											
TTN	7273	broad.mit.edu	37	chr2	179611824	179611824	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggaatatcgctctagagtCtctcctgggggtgtggagta	7	12	15	7	1	2	1	0	0	2	1	5	3	3	3	1	4	0	2	1	4	4	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:179611824C>T	ENST00000360870.5	-	46	15525	c.15303G>A	c.(15301-15303)gaG>gaA	p.E5101E	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1209	Ig-like 31.						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)			GCTCTAGAGTCTCTCCTGGGG	0.502													12	129					0	0	0	0	T	179611824	C	T	179611824	2	4	127	1	0	0	0	0	0	0	0	1	16831	912	32	2		2	TTN	2	179611824	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	135840	179611824	63587549	68	24277											
SDPR	8436	broad.mit.edu	37	chr2	192701254	192701254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattttctctgccctactttCttccaccttttcctcggcac	4	18	3	16	1	2	0	0	0	2	0	6	0	4	0	4	1	2	1	4	1	2	8			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:192701254C>T	ENST00000304141.4	-	2	1002	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	225						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCCCTACTTTCTTCCACCTTT	0.488													10	201					0	0	0	0	T	192701254	C	T	192701254	3	4	127	1	0	0	0	0	1	0	0	0	14057	922	32	2	608	2	SDPR	2	192701254	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	13089430	192701254	50498119	69	24278											
SLC39A10	57181	broad.mit.edu	37	chr2	196571476	196571476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattagctgtaggaacaatGagtggagacgcccttcttca	11	10	11	9	1	2	2	1	1	1	1	2	4	2	3	1	2	2	3	1	2	4	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:196571476G>A	ENST00000409086.3	+	4	1628	c.1353G>A	c.(1351-1353)atG>atA	p.M451I	SLC39A10_ENST00000359634.5_Missense_Mutation_p.M451I|SLC39A10_ENST00000541054.1_Start_Codon_SNP_p.M1I	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	451					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TAGGAACAATGAGTGGAGACG	0.368													15	157					0	0	0	0	A	196571476	G	A	196571476	3	1	127	1	0	0	0	0	1	0	0	0	14701	1290	45	2	1363	2	SLC39A10	2	196571476	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3870222	196571476	46627897	70	24279											
DNAH7	56171	broad.mit.edu	37	chr2	196664127	196664127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaaatgccttggctaaatCaaaggggggtggttcaatga	12	10	12	7	0	2	1	2	1	0	0	3	1	3	1	2	5	1	2	2	5	5	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:196664127C>G	ENST00000312428.6	-	55	10346	c.10246G>C	c.(10246-10248)Gat>Cat	p.D3416H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3416	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D3416N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGGCTAAATCAAAGGGGGGT	0.438													8	161					0	0	0	0	G	196664127	C	G	196664127	3	3	127	1	0	0	0	0	1	0	0	0	4642	826	29	2	1872	2	DNAH7	2	196664127	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	92651	196664127	46535246	71	24280											
STK17B	9262	broad.mit.edu	37	chr2	197008314	197008314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgttcccatgatttcccGaagttcacacgcatgcccta	8	12	8	13	2	1	1	1	1	0	0	3	2	3	1	3	1	1	3	3	1	2	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:197008314G>A	ENST00000263955.4	-	5	863	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	STK17B_ENST00000409228.1_Missense_Mutation_p.R193W	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	193	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATGATTTCCCGAAGTTCACAC	0.338													7	121					0	0	0	0	A	197008314	G	A	197008314	3	1	127	1	0	0	0	0	1	0	0	0	15381	1057	37	1	557	1	STK17B	2	197008314	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	344187	197008314	46191059	72	24281											
CCDC150	284992	broad.mit.edu	37	chr2	197534573	197534573	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagcttctagagatgacctCatttccaagttggttgaaga	11	14	9	7	0	2	4	1	2	1	2	3	5	3	4	2	1	1	3	2	1	4	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:197534573C>G	ENST00000472405.2	+	5	563	c.353C>G	c.(352-354)tCa>tGa	p.S118*	CCDC150_ENST00000389175.4_Silent_p.L303L|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_5'UTR			Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	221										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGATGACCTCATTTCCAAGT	0.333													8	129					0	0	0	0	G	197534573	C	G	197534573	4	3	127	1	0	0	0	0	0	1	0	0	2810	813	29	2	939	2	CCDC150	2	197534573	Nonsense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	526259	197534573	45664800	73	24282											
SF3B1	23451	broad.mit.edu	37	chr2	198260841	198260841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtagtcttttcccatttCaccaatatattcaaacaaga	15	14	3	9	0	3	1	2	0	1	1	4	1	4	1	2	0	1	1	2	0	7	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:198260841C>T	ENST00000335508.5	-	23	3569	c.3478G>A	c.(3478-3480)Gaa>Aaa	p.E1160K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1160					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTCCCATTTCACCAATATAT	0.333			Mis		myelodysplastic syndrome								12	155					0	0	0	0	T	198260841	C	T	198260841	3	4	127	1	0	0	0	0	1	0	0	0	14236	835	29	2	448	2	SF3B1	2	198260841	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	726268	198260841	44938532	74	24283											
BZW1	9689	broad.mit.edu	37	chr2	201680219	201680219	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaaacactctttgacattCtggtggctggtggaatgctg	9	12	12	8	0	2	2	0	1	2	1	2	3	2	3	0	4	2	2	0	4	2	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:201680219C>G	ENST00000409600.1	+	3	675	c.220C>G	c.(220-222)Ctg>Gtg	p.L74V	BZW1_ENST00000409226.1_Missense_Mutation_p.L78V|BZW1_ENST00000452790.2_Missense_Mutation_p.L106V	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						CTTTGACATTCTGGTGGCTGG	0.398													4	40					0	0	0	0	G	201680219	C	G	201680219	3	3	127	1	0	0	0	0	1	0	0	0	1587	912	32	2	226	2	BZW1	2	201680219	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3419378	201680219	41519154	75	24284											
STRADB	55437	broad.mit.edu	37	chr2	202343234	202343234	+	Frame_Shift_Del	DEL	G	G	-																															tggaactcacacagtaaataGtgaccgattacacacaccat																										TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:202343234delG	ENST00000194530.3	+	10	1345	c.980delG	c.(979-981)atfs	p.S327fs	STRADB_ENST00000392249.2_Frame_Shift_Del_p.S327fs	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	327	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ACAGTAAATAGTGACCGATTA	0.423													10	77	---	---	---	---					-	202343234	G	-	202343234	7	5	127	1	0	1	0	1	0	0	0	0	15415	1029	36	0	1014	0	STRADB	2	202343234	Frame_Shift_Del	DEL	G	TCGA-CN-A6V1-01A-12D-A34J-08	663015	202343234	40856139	76	24285											
BMPR2	659	broad.mit.edu	37	chr2	203383743	203383743	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcactgcagatggacgcatgGaatatttgcttgtgatggag	10	12	13	6	1	1	2	1	1	0	1	1	5	1	5	0	3	2	3	0	3	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:203383743G>C	ENST00000374580.4	+	6	1359	c.820G>C	c.(820-822)Gaa>Caa	p.E274Q	BMPR2_ENST00000374574.2_Missense_Mutation_p.E274Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	274	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TGGACGCATGGAATATTTGCT	0.418													9	141					0	0	0	0	C	203383743	G	C	203383743	3	2	127	1	0	0	0	0	1	0	0	0	1476	1175	41	2	842	2	BMPR2	2	203383743	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1040509	203383743	39815630	77	24286											
CPS1	1373	broad.mit.edu	37	chr2	211421499	211421499	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaagtggtgaggacactGaagactggttttggctttac	10	13	12	6	0	1	3	1	2	0	1	1	4	1	4	0	4	1	2	0	4	3	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:211421499G>A	ENST00000233072.5	+	1	238	c.42G>A	c.(40-42)ctG>ctA	p.L14L	CPS1_ENST00000430249.2_Silent_p.L20L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	14					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGAGGACACTGAAGACTGGTT	0.363													9	125					0	0	0	0	A	211421499	G	A	211421499	2	1	127	1	0	0	0	0	0	0	0	1	3853	1277	45	2		2	CPS1	2	211421499	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	8037756	211421499	31777874	78	24287											
FN1	2335	broad.mit.edu	37	chr2	216274733	216274733	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggccgtactgctggatgctGatgagctggccctcgtatac	6	11	13	11	2	0	2	0	2	0	0	1	3	0	3	2	3	5	5	2	3	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:216274733G>A	ENST00000354785.4	-	14	2415	c.2046C>T	c.(2044-2046)atC>atT	p.I682I	FN1_ENST00000345488.5_Silent_p.I682I|FN1_ENST00000359671.1_Silent_p.I682I|FN1_ENST00000443816.1_Silent_p.I682I|FN1_ENST00000446046.1_Silent_p.I682I|FN1_ENST00000323926.6_Silent_p.I682I|FN1_ENST00000357867.4_Silent_p.I682I|FN1_ENST00000357009.2_Silent_p.I682I|FN1_ENST00000432072.2_Silent_p.I682I|FN1_ENST00000356005.4_Silent_p.I682I|FN1_ENST00000346544.3_Silent_p.I682I|FN1_ENST00000336916.4_Silent_p.I682I|FN1_ENST00000421182.1_Silent_p.I682I			P02751	FINC_HUMAN	fibronectin 1	682	Fibronectin type-III 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGGATGCTGATGAGCTGGC	0.537													7	140					0	0	0	0	A	216274733	G	A	216274733	2	1	127	1	0	0	0	0	0	0	0	1	6007	1280	45	2		2	FN1	2	216274733	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	4853234	216274733	26924640	79	24288											
TMBIM1	64114	broad.mit.edu	37	chr2	219144753	219144753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcgcgtatcttacctttCggataaaagtgtgtcgcact	9	12	9	11	4	1	0	0	0	1	0	3	1	1	1	2	1	2	2	2	1	4	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr2:219144753C>T	ENST00000444881.1	-	4	1024	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	PNKD_ENST00000472650.1_Intron|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000258412.3_Missense_Mutation_p.R100Q|TMBIM1_ENST00000396809.2_Missense_Mutation_p.R100Q|TMBIM1_ENST00000445635.1_5'UTR			Q969X1	TMBI1_HUMAN	transmembrane BAX inhibitor motif containing 1	100						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTTACCTTTCGGATAAAAGT	0.587													7	85					0	0	0	0	T	219144753	C	T	219144753	3	4	127	1	0	0	0	0	1	0	0	0	16075	884	31	1	676	1	TMBIM1	2	219144753	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2870020	219144753	24054620	80	24289											
CNTN6	27255	broad.mit.edu	37	chr3	1262490	1262490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaatggttacccttcgcctCattataggtaaaatcctacc	11	13	5	12	1	1	0	1	0	0	0	3	0	2	0	4	2	2	2	4	2	7	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:1262490C>T	ENST00000446702.2	+	3	802	c.175C>T	c.(175-177)Cat>Tat	p.H59Y	CNTN6_ENST00000350110.2_Missense_Mutation_p.H59Y|CNTN6_ENST00000539053.1_5'UTR			Q9UQ52	CNTN6_HUMAN	contactin 6	59	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCCTTCGCCTCATTATAGGTA	0.363													8	129					0	0	0	0	T	1262490	C	T	1262490	3	4	127	1	0	0	0	0	1	0	0	0	3675	826	29	2	181	2	CNTN6	3	1262490	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08		1262490	196759940	81	24290											
FANCD2	2177	broad.mit.edu	37	chr3	10094157	10094157	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acactggcatttagcaaacaGaatgaagccagcagccacat	16	6	8	11	0	0	2	0	1	0	1	0	2	0	2	2	1	5	3	2	1	4	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:10094157G>C	ENST00000287647.3	+	18	1725	c.1632G>C	c.(1630-1632)caG>caC	p.Q544H	FANCD2_ENST00000383807.1_Missense_Mutation_p.Q544H|FANCD2_ENST00000383806.1_Missense_Mutation_p.Q544H|FANCD2_ENST00000419585.1_Missense_Mutation_p.Q544H	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	544					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTAGCAAACAGAATGAAGCCA	0.408			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	77					0	0	0	0	C	10094157	G	C	10094157	3	2	127	1	0	0	0	0	1	0	0	0	5710	933	33	2	1698	2	FANCD2	3	10094157	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	8831667	10094157	187928273	82	24291											
DLEC1	9940	broad.mit.edu	37	chr3	38138180	38138180	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagagccatatgccctcatCatcccaggggagaactacat	12	9	8	12	0	2	2	2	0	0	2	3	3	3	2	3	2	4	0	3	2	4	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:38138180C>T	ENST00000308059.6	+	15	2313	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	DLEC1_ENST00000346219.3_Silent_p.I764I|DLEC1_ENST00000452631.2_Silent_p.I764I			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	764					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATGCCCTCATCATCCCAGGGG	0.498													13	191					0	0	0	0	T	38138180	C	T	38138180	2	4	127	1	0	0	0	0	0	0	0	1	4589	816	29	2		2	DLEC1	3	38138180	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	28044023	38138180	159884250	83	24292											
ZNF660	285349	broad.mit.edu	37	chr3	44635767	44635767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggagtgaccaagaatctGaaaaagacaatagtcagtgc	18	6	11	6	0	2	4	1	2	1	2	2	5	2	5	1	1	1	0	1	1	7	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:44635767G>A	ENST00000322734.2	+	3	415	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CCAAGAATCTGAAAAAGACAA	0.393													6	88					0	0	0	0	A	44635767	G	A	44635767	3	1	127	1	0	0	0	0	1	0	0	0	18165	1291	45	2	84	2	ZNF660	3	44635767	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	6497587	44635767	153386663	84	24293											
TGM4	7047	broad.mit.edu	37	chr3	44952515	44952515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctggctatattagatgatGagccagttatcagaggtttc	10	13	11	7	0	1	4	1	2	0	2	2	4	1	4	2	2	1	3	2	2	4	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:44952515G>A	ENST00000296125.4	+	12	1740	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	558					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATTAGATGATGAGCCAGTTAT	0.458													7	90					0	0	0	0	A	44952515	G	A	44952515	3	1	127	1	0	0	0	0	1	0	0	0	15926	1291	45	2	1718	2	TGM4	3	44952515	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	316748	44952515	153069915	85	24294											
FOXP1	27086	broad.mit.edu	37	chr3	71027029	71027029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtaccgcctgcggatgggtCccaccgtgtgcatgctggtg	5	9	15	12	3	0	0	0	0	0	0	1	1	1	1	4	3	4	3	4	3	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:71027029C>T	ENST00000318789.4	-	15	1823	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	FOXP1_ENST00000493089.1_Missense_Mutation_p.G433E|FOXP1_ENST00000484350.1_Missense_Mutation_p.G357E|FOXP1_ENST00000498215.1_Missense_Mutation_p.G433E|FOXP1_ENST00000475937.1_Missense_Mutation_p.G433E|FOXP1_ENST00000491238.1_Missense_Mutation_p.G435E|FOXP1_ENST00000468577.1_Missense_Mutation_p.G433E	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	433					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GCGGATGGGTCCCACCGTGTG	0.552			T	PAX5	ALL								12	195					0	0	0	0	T	71027029	C	T	71027029	3	4	127	1	0	0	0	0	1	0	0	0	6073	855	30	2	763	2	FOXP1	3	71027029	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	26074514	71027029	126995401	86	24295											
FOXP1	27086	broad.mit.edu	37	chr3	71027138	71027138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taagctctgtggagaagcctCcgatgcggacttggagagag	10	8	15	8	2	1	2	0	0	1	2	2	7	2	4	2	3	3	1	2	3	2	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:71027138C>T	ENST00000318789.4	-	15	1714	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	FOXP1_ENST00000493089.1_Missense_Mutation_p.E397K|FOXP1_ENST00000484350.1_Missense_Mutation_p.E321K|FOXP1_ENST00000498215.1_Missense_Mutation_p.E397K|FOXP1_ENST00000475937.1_Missense_Mutation_p.E397K|FOXP1_ENST00000491238.1_Missense_Mutation_p.E399K|FOXP1_ENST00000468577.1_Missense_Mutation_p.E397K	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	397					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGAGAAGCCTCCGATGCGGAC	0.527			T	PAX5	ALL								5	150					0	0	0	0	T	71027138	C	T	71027138	3	4	127	1	0	0	0	0	1	0	0	0	6073	864	30	2	872	2	FOXP1	3	71027138	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	109	71027138	126995292	87	24296											
PDZRN3	23024	broad.mit.edu	37	chr3	73433958	73433958	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgtcgtcgccattgttctCttgctccgagctctcgtcat	3	14	10	14	5	3	0	1	0	2	0	8	1	4	0	2	1	2	3	2	1	0	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:73433958C>G	ENST00000263666.4	-	10	1873	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	PDZRN3_ENST00000535920.1_Missense_Mutation_p.E309Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E244Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E244Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E304Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	587							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCATTGTTCTCTTGCTCCGAG	0.637													4	63					0	0	0	0	G	73433958	C	G	73433958	3	3	127	1	0	0	0	0	1	0	0	0	11780	922	32	2	1445	2	PDZRN3	3	73433958	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2406820	73433958	124588472	88	24297											
CNTN3	5067	broad.mit.edu	37	chr3	74411183	74411183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggattctttgaaaaatctgGagcagaagctgaaaggcaag	15	9	12	5	0	2	3	0	2	2	1	2	5	2	5	0	3	2	3	0	3	5	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:74411183G>A	ENST00000263665.6	-	10	1249	c.1222C>T	c.(1222-1224)Cca>Tca	p.P408S		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	408	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GAAAAATCTGGAGCAGAAGCT	0.433													6	60					0	0	0	0	A	74411183	G	A	74411183	3	1	127	1	0	0	0	0	1	0	0	0	3672	1174	41	2	1916	2	CNTN3	3	74411183	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	977225	74411183	123611247	89	24298											
GBE1	2632	broad.mit.edu	37	chr3	81695605	81695605	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatagtaagcatgctccatGattgccatcaactgaatgca	13	10	8	10	0	1	2	1	2	0	0	2	2	2	2	2	0	5	5	2	0	4	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:81695605G>A	ENST00000429644.2	-	6	1363	c.720C>T	c.(718-720)atC>atT	p.I240I	GBE1_ENST00000489715.1_Silent_p.I199I	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	240					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CATGCTCCATGATTGCCATCA	0.348									Glycogen Storage Disease, type IV				11	120					0	0	0	0	A	81695605	G	A	81695605	2	1	127	1	0	0	0	0	0	0	0	1	6319	1280	45	2		2	GBE1	3	81695605	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	7284422	81695605	116326825	90	24299											
OR5H1	26341	broad.mit.edu	37	chr3	97852033	97852033	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccatgaaggatttttattCagactaaccttctgtaactc	12	15	5	9	0	2	2	1	1	1	1	4	3	3	3	2	1	2	1	2	1	4	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:97852033C>G	ENST00000354565.2	+	1	492	c.492C>G	c.(490-492)ttC>ttG	p.F164L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GATTTTTATTCAGACTAACCT	0.343													6	184					0	0	0	0	G	97852033	C	G	97852033	3	3	127	1	0	0	0	0	1	0	0	0	11230	825	29	2	494	2	OR5H1	3	97852033	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	16156428	97852033	100170397	91	24300											
CCDC54	84692	broad.mit.edu	37	chr3	107097120	107097120	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtaaccatcaaaatgcatCaaggagctttgaaaaagcaa	19	7	7	8	1	2	1	2	1	0	0	2	2	2	2	1	1	4	4	1	1	7	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:107097120C>A	ENST00000261058.1	+	1	933	c.686C>A	c.(685-687)tCa>tAa	p.S229*		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	229										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CAAAATGCATCAAGGAGCTTT	0.368													10	147					4.68919e-08	4.79576e-08	1	0	A	107097120	C	A	107097120	4	1	127	1	0	0	0	0	0	1	0	0	2851	838	29	2	688	2	CCDC54	3	107097120	Nonsense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	9245087	107097120	90925310	92	24301											
KIAA1407	57577	broad.mit.edu	37	chr3	113697717	113697717	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccttacctgtagccagctCtggatgactctcttaagcag	8	12	9	12	0	2	1	0	1	2	0	4	2	3	2	3	1	4	3	3	1	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:113697717C>T	ENST00000295878.3	-	15	2594	c.2448G>A	c.(2446-2448)caG>caA	p.Q816Q	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	816										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GTAGCCAGCTCTGGATGACTC	0.428													14	202					0	0	0	0	T	113697717	C	T	113697717	2	4	127	1	0	0	0	0	0	0	0	1	8280	912	32	2		2	KIAA1407	3	113697717	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	6600597	113697717	84324713	93	24302											
ZBTB20	26137	broad.mit.edu	37	chr3	114070460	114070460	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccgctgtacatgaagtcAatgagcttttgcactgactg	10	11	10	10	2	1	3	1	3	0	0	1	3	1	3	1	0	3	4	1	0	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:114070460A>T	ENST00000462705.1	-	11	1067	c.246T>A	c.(244-246)atT>atA	p.I82I	ZBTB20_ENST00000471418.1_Silent_p.I82I|ZBTB20_ENST00000474710.1_Silent_p.I155I|ZBTB20_ENST00000481632.1_Silent_p.I82I|ZBTB20_ENST00000464560.1_Silent_p.I82I|ZBTB20_ENST00000357258.3_Silent_p.I82I|ZBTB20_ENST00000393785.2_Silent_p.I82I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACATGAAGTCAATGAGCTTTT	0.577													13	72					0	0	0	0	T	114070460	A	T	114070460	2	4	127	1	0	0	0	0	0	0	0	1	17624	126	5	5		5	ZBTB20	3	114070460	Silent	SNP	A	TCGA-CN-A6V1-01A-12D-A34J-08	372743	114070460	83951970	94	24303											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133435	119133435	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcagtacaggagccttcaGactgtgacgaagatgacact	13	9	10	9	1	2	4	2	2	0	2	2	6	2	5	1	1	2	1	1	1	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:119133435G>C	ENST00000264245.4	+	12	3191	c.2659G>C	c.(2659-2661)Gac>Cac	p.D887H		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	887					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAGCCTTCAGACTGTGACGA	0.552													4	106					0	0	0	0	C	119133435	G	C	119133435	3	2	127	1	0	0	0	0	1	0	0	0	882	942	33	2	2705	2	ARHGAP31	3	119133435	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	5062975	119133435	78888995	95	24304											
STXBP5L	9515	broad.mit.edu	37	chr3	120976074	120976074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgaaccagaaacaagtcctCcgtttccagatctctcagcc	11	9	6	15	1	2	3	1	1	1	2	6	3	5	3	5	0	3	1	5	0	3	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:120976074C>T	ENST00000273666.6	+	17	1997	c.1726C>T	c.(1726-1728)Ccg>Tcg	p.P576S	STXBP5L_ENST00000471454.1_Missense_Mutation_p.P576S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P576S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P576S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P576S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	576					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AACAAGTCCTCCGTTTCCAGA	0.388													7	195					0	0	0	0	T	120976074	C	T	120976074	3	4	127	1	0	0	0	0	1	0	0	0	15447	855	30	2	1788	2	STXBP5L	3	120976074	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1842639	120976074	77046356	96	24305											
SLC15A2	6565	broad.mit.edu	37	chr3	121647331	121647331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtcttgaatctggcagatGatgaggtgaaggtgacagtg	12	10	15	4	0	2	6	0	5	2	1	2	6	2	6	0	3	0	1	0	3	3	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:121647331G>A	ENST00000489711.1	+	15	1658	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	SLC15A2_ENST00000295605.2_Missense_Mutation_p.D393N|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	424					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)	TCTGGCAGATGATGAGGTGAA	0.448													13	178					0	0	0	0	A	121647331	G	A	121647331	3	1	127	1	0	0	0	0	1	0	0	0	14487	1290	45	2	1328	2	SLC15A2	3	121647331	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	671257	121647331	76375099	97	24306											
WDR5B	54554	broad.mit.edu	37	chr3	122134192	122134192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaattatgattagcctatCagcagaagaacttgctagcc	14	10	7	10	0	1	3	1	1	0	2	1	3	1	3	3	0	5	2	3	0	7	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:122134192C>T	ENST00000330689.4	-	1	690	c.184G>A	c.(184-186)Gat>Aat	p.D62N		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	62										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		ATTAGCCTATCAGCAGAAGAA	0.403													19	312					0	0	0	0	T	122134192	C	T	122134192	3	4	127	1	0	0	0	0	1	0	0	0	17405	826	29	2	812	2	WDR5B	3	122134192	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	486861	122134192	75888238	98	24307											
MUC13	56667	broad.mit.edu	37	chr3	124653538	124653538	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggagagcaagaagagtaaGatgaatgatggctttcattt	16	10	12	3	0	1	6	1	2	0	4	1	7	1	6	0	2	1	3	0	2	5	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:124653538G>C	ENST00000311075.3	-	1	57	c.19C>G	c.(19-21)Ctt>Gtt	p.L7V	MUC13_ENST00000497378.1_Intron	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	7						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AGAAGAGTAAGATGAATGATG	0.378													4	86					0	0	0	0	C	124653538	G	C	124653538	3	2	127	1	0	0	0	0	1	0	0	0	10041	942	33	2	1560	2	MUC13	3	124653538	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2519346	124653538	73368892	99	24308											
TMEM108	66000	broad.mit.edu	37	chr3	133099627	133099627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtcttcacggctgccacgGggcccaccccagctgccttc	4	7	12	18	2	2	0	1	0	1	0	3	0	2	0	5	4	3	2	5	4	0	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:133099627G>A	ENST00000515826.1	+	3	1195	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.G358R|TMEM108_ENST00000393130.3_Missense_Mutation_p.G358R			Q6UXF1	TM108_HUMAN	transmembrane protein 108	358						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCTGCCACGGGGCCCACCCC	0.622													5	84					0	0	0	0	A	133099627	G	A	133099627	3	1	127	1	0	0	0	0	1	0	0	0	16118	1232	43	4	1078	4	TMEM108	3	133099627	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	8446089	133099627	64922803	100	24309											
GMPS	8833	broad.mit.edu	37	chr3	155615828	155615828	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggaatttgctatggtatgCaggtatgtcagcaaatttgt	10	16	11	4	0	1	0	1	0	0	0	1	1	1	1	0	3	3	5	0	3	5	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:155615828C>T	ENST00000496455.1	+	3	657	c.322C>T	c.(322-324)Cag>Tag	p.Q108*	GMPS_ENST00000476145.1_3'UTR|GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	108	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTATGGTATGCAGGTATGTCA	0.363			T	MLL	AML								5	243					0	0	0	0	T	155615828	C	T	155615828	4	4	127	1	0	0	0	0	0	1	0	0	6549	711	25	4	332	4	GMPS	3	155615828	Nonsense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	22516201	155615828	42406602	101	24310											
GMPS	8833	broad.mit.edu	37	chr3	155628611	155628611	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtggaaccttcaccgtGcagaacagagaacttgagtg	12	8	12	9	1	1	3	1	1	0	2	1	5	1	4	2	1	5	2	2	1	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:155628611G>A	ENST00000496455.1	+	6	992	c.657G>A	c.(655-657)gtG>gtA	p.V219V	GMPS_ENST00000295920.7_Silent_p.V120V	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	219					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTTCACCGTGCAGAACAGAG	0.388			T	MLL	AML								11	73					0	0	0	0	A	155628611	G	A	155628611	2	1	127	1	0	0	0	0	0	0	0	1	6549	1306	46	4		4	GMPS	3	155628611	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	12783	155628611	42393819	102	24311											
NMD3	51068	broad.mit.edu	37	chr3	160960409	160960409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatagtccaagatataaaaCgtgctgcaggtgctggaatg	13	9	12	7	1	0	1	0	0	0	1	1	2	1	2	1	2	4	4	1	2	6	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:160960409C>G	ENST00000460469.1	+	10	1440	c.985C>G	c.(985-987)Cgt>Ggt	p.R329G	NMD3_ENST00000472947.1_Missense_Mutation_p.R329G|NMD3_ENST00000351193.2_Missense_Mutation_p.R329G			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	329					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AGATATAAAACGTGCTGCAGG	0.408													14	146					0	0	0	0	G	160960409	C	G	160960409	3	3	127	1	0	0	0	0	1	0	0	0	10558	536	19	3	1023	3	NMD3	3	160960409	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	5331798	160960409	37062021	103	24312											
PIK3CA	5290	broad.mit.edu	37	chr3	178916854	178916854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaagaagcagaaagggaaGaattttttgatgaaacaaga	19	8	10	4	0	1	6	1	2	0	4	1	7	1	7	0	1	2	1	0	1	7	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:178916854G>A	ENST00000263967.3	+	2	398	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	81	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E81K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGAAAGGGAAGAATTTTTTGA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	135					0	0	0	0	A	178916854	G	A	178916854	3	1	127	1	0	0	0	0	1	0	0	0	11985	943	33	2	243	2	PIK3CA	3	178916854	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	17956445	178916854	19105576	104	24313											
ATP13A5	344905	broad.mit.edu	37	chr3	192997178	192997178	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattccacggtatataacttGaaagtcagaaaacagaatga	18	9	7	7	1	1	4	1	2	0	2	2	4	2	4	1	1	2	1	1	1	7	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:192997178G>A	ENST00000342358.4	-	28	3409	c.3292C>T	c.(3292-3294)Caa>Taa	p.Q1098*	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1098					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)		TATATAACTTGAAAGTCAGAA	0.358													4	93					0	0	0	0	A	192997178	G	A	192997178	4	1	127	1	0	0	0	0	0	1	0	0	1131	1299	45	2	374	2	ATP13A5	3	192997178	Nonsense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	14080324	192997178	5025252	105	24314											
TM4SF19	116211	broad.mit.edu	37	chr3	196054326	196054326	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggaggcccctcaacaGgtaggtgacatcccagttag	11	6	12	12	0	1	1	1	1	0	0	2	2	2	2	4	4	1	2	4	4	4	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:196054326G>C	ENST00000446879.1	-	2	261	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	TM4SF19_ENST00000273695.3_Missense_Mutation_p.L46V|TM4SF19_ENST00000454715.1_Missense_Mutation_p.L46V			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	46						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCCCTCAACAGGTAGGTGACA	0.607													12	129					0	0	0	0	C	196054326	G	C	196054326	3	2	127	1	0	0	0	0	1	0	0	0	16062	991	35	4	509	4	TM4SF19	3	196054326	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3057148	196054326	1968104	106	24315											
RNF168	165918	broad.mit.edu	37	chr3	196210708	196210708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacttgggtgtaactggatCagattttctggaattcaagg	11	13	12	5	0	3	2	2	0	1	2	3	4	3	4	0	4	1	1	0	4	3	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:196210708C>T	ENST00000318037.3	-	4	1207	c.613G>A	c.(613-615)Gat>Aat	p.D205N		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	205					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GTAACTGGATCAGATTTTCTG	0.348													6	213					0	0	0	0	T	196210708	C	T	196210708	3	4	127	1	0	0	0	0	1	0	0	0	13544	826	29	2	1114	2	RNF168	3	196210708	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	156382	196210708	1811722	107	24316											
SENP5	205564	broad.mit.edu	37	chr3	196650379	196650379	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctctaatcgaattatttCattttatgattcccaaggca	12	16	4	9	1	2	1	1	1	1	0	5	2	3	1	1	1	0	1	1	1	5	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr3:196650379C>G	ENST00000323460.5	+	7	2228	c.1979C>G	c.(1978-1980)tCa>tGa	p.S660*	SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Nonsense_Mutation_p.S150*	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	660	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CGAATTATTTCATTTTATGAT	0.333													7	156					0	0	0	0	G	196650379	C	G	196650379	4	3	127	1	0	0	0	0	0	1	0	0	14136	838	29	2	2001	2	SENP5	3	196650379	Nonsense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	439671	196650379	1372051	108	24317											
MAEA	10296	broad.mit.edu	37	chr4	1316234	1316234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtccctggagaggcgtgaGacggccacctgcctggcctg	6	6	16	13	2	0	2	0	1	0	2	1	5	1	2	5	4	1	0	5	4	0	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:1316234G>C	ENST00000303400.4	+	4	585	c.522G>C	c.(520-522)gaG>gaC	p.E174D	MAEA_ENST00000505839.1_Missense_Mutation_p.E126D|MAEA_ENST00000452175.2_Missense_Mutation_p.E95D|MAEA_ENST00000505177.2_Missense_Mutation_p.E174D|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000510794.1_Missense_Mutation_p.E173D|MAEA_ENST00000264750.6_Intron	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	174	CTLH.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			AGAGGCGTGAGACGGCCACCT	0.597													4	95					0	0	0	0	C	1316234	G	C	1316234	3	2	127	1	0	0	0	0	1	0	0	0	9218	933	33	2	536	2	MAEA	4	1316234	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08		1316234	189838042	109	24318											
RGS12	6002	broad.mit.edu	37	chr4	3424646	3424646	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcagcctctggtgctgcaCcaagacagtagcatcttgga	9	9	10	13	0	3	1	1	0	2	1	3	2	3	2	3	2	4	4	3	2	2	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:3424646C>G	ENST00000336727.3	+	12	3952	c.3048C>G	c.(3046-3048)caC>caG	p.H1016Q	RGS12_ENST00000538395.1_Missense_Mutation_p.H358Q|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.H1016Q|RGS12_ENST00000344733.5_Missense_Mutation_p.H1016Q|RGS12_ENST00000338806.4_Missense_Mutation_p.H368Q|RGS12_ENST00000306648.7_Missense_Mutation_p.H414Q	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1016	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGTGCTGCACCAAGACAGTA	0.582													9	109					0	0	0	0	G	3424646	C	G	3424646	3	3	127	1	0	0	0	0	1	0	0	0	13378	506	18	4	3148	4	RGS12	4	3424646	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2108412	3424646	187729630	110	24319											
CD38	952	broad.mit.edu	37	chr4	15850161	15850161	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttttgctttcttgtcataGacctgacaagtttcttcagt	7	20	6	8	0	4	2	2	1	2	1	4	2	4	2	1	0	1	2	1	0	2	8			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:15850161G>C	ENST00000226279.2	+	8	976		c.e8-1			NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule						B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TCTTGTCATAGACCTGACAAG	0.448													7	62					0	0	0	0	C	15850161	G	C	15850161	5	2	127	1	0	0	0	0	0	0	1	0	3038	956	33	2	869	2	CD38	4	15850161	Splice_Site	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	12425515	15850161	175304115	111	24320											
CD38	952	broad.mit.edu	37	chr4	15850186	15850186	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacaagtttcttcagtgtgtGaaaaatcctgaggattcatc	12	13	9	7	0	3	2	2	2	1	0	5	4	4	3	1	1	0	1	1	1	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:15850186G>C	ENST00000226279.2	+	8	1001	c.864G>C	c.(862-864)gtG>gtC	p.V288V		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	288					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TTCAGTGTGTGAAAAATCCTG	0.428													9	86					0	0	0	0	C	15850186	G	C	15850186	2	2	127	1	0	0	0	0	0	0	0	1	3038	1277	45	2		2	CD38	4	15850186	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	25	15850186	175304090	112	24321											
PPARGC1A	10891	broad.mit.edu	37	chr4	23886407	23886407	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaggctcattgttgtactGattggatattatttctgatt	9	19	9	4	0	2	3	1	3	1	0	2	4	2	4	0	2	1	3	0	2	4	8			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:23886407G>A	ENST00000264867.2	-	2	321	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	PPARGC1A_ENST00000507380.1_Nonsense_Mutation_p.Q68*	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	68					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGTTGTACTGATTGGATATT	0.393													6	91					0	0	0	0	A	23886407	G	A	23886407	4	1	127	1	0	0	0	0	0	1	0	0	12371	1299	45	2	2242	2	PPARGC1A	4	23886407	Nonsense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	8036221	23886407	167267869	113	24322											
FRYL	285527	broad.mit.edu	37	chr4	48502084	48502084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctacagctgatataaattCtttatttttcaaagtttcaa	13	18	4	6	0	3	1	2	1	1	0	3	1	3	1	0	0	3	3	0	0	7	9			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:48502084C>G	ENST00000358350.4	-	63	9350	c.8746G>C	c.(8746-8748)Gaa>Caa	p.E2916Q	FRYL_ENST00000507873.2_Missense_Mutation_p.E306Q|FRYL_ENST00000264319.7_Missense_Mutation_p.E306Q|FRYL_ENST00000503238.1_Missense_Mutation_p.E2916Q|FRYL_ENST00000537810.1_Missense_Mutation_p.E2916Q	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2916					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.E2916*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GATATAAATTCTTTATTTTTC	0.343													4	69					0	0	0	0	G	48502084	C	G	48502084	3	3	127	1	0	0	0	0	1	0	0	0	6112	922	32	2	303	2	FRYL	4	48502084	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	24615677	48502084	142652192	114	24323											
FRYL	285527	broad.mit.edu	37	chr4	48578166	48578166	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcactgcagcaaaggatcaGatagtttctccacaggccaa	13	8	9	11	0	2	1	1	0	1	1	3	2	2	2	2	2	3	4	2	2	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:48578166G>A	ENST00000358350.4	-	24	3206	c.2602C>T	c.(2602-2604)Ctg>Ttg	p.L868L	FRYL_ENST00000507711.1_Silent_p.L868L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.L868L|FRYL_ENST00000537810.1_Silent_p.L868L	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	868					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAAAGGATCAGATAGTTTCTC	0.463													8	94					0	0	0	0	A	48578166	G	A	48578166	2	1	127	1	0	0	0	0	0	0	0	1	6112	933	33	2		2	FRYL	4	48578166	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	76082	48578166	142576110	115	24324											
KIT	3815	broad.mit.edu	37	chr4	55603419	55603419	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaattgttcagctaattgaGaagcagatttcagagagcac	15	10	9	7	0	2	3	2	1	0	3	2	5	2	3	0	0	3	4	0	0	3	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:55603419G>A	ENST00000288135.5	+	20	2872	c.2775G>A	c.(2773-2775)gaG>gaA	p.E925E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	925	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTAATTGAGAAGCAGATTT	0.468		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				4	105					0	0	0	0	A	55603419	G	A	55603419	2	1	127	1	0	0	0	0	0	0	0	1	8381	933	33	2		2	KIT	4	55603419	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	7025253	55603419	135550857	116	24325											
LPHN3	23284	broad.mit.edu	37	chr4	62598777	62598777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatagtaaagtttgatttgCggactaggataaagagtgga	15	11	12	3	1	0	2	0	1	0	1	0	5	0	5	0	3	1	2	0	3	6	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:62598777C>T	ENST00000512091.1	+	7	1447	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	LPHN3_ENST00000506746.1_Missense_Mutation_p.R302W|LPHN3_ENST00000507625.1_Missense_Mutation_p.R302W|LPHN3_ENST00000514157.1_Missense_Mutation_p.R234W|LPHN3_ENST00000507164.1_Missense_Mutation_p.R302W|LPHN3_ENST00000545650.1_Missense_Mutation_p.R234W|LPHN3_ENST00000509896.1_Missense_Mutation_p.R302W|LPHN3_ENST00000508693.1_Missense_Mutation_p.R302W|LPHN3_ENST00000514996.1_Missense_Mutation_p.R234W|LPHN3_ENST00000504896.1_Missense_Mutation_p.R234W|LPHN3_ENST00000508946.1_Missense_Mutation_p.R234W|LPHN3_ENST00000511324.1_Missense_Mutation_p.R302W|LPHN3_ENST00000506700.1_Missense_Mutation_p.R234W|LPHN3_ENST00000514591.1_Missense_Mutation_p.R234W|LPHN3_ENST00000506720.1_Missense_Mutation_p.R302W			Q9HAR2	LPHN3_HUMAN	latrophilin 3	234	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R234W(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTTTGATTTGCGGACTAGGAT	0.468													5	40					0	0	0	0	T	62598777	C	T	62598777	3	4	127	1	0	0	0	0	1	0	0	0	8981	759	27	1	718	1	LPHN3	4	62598777	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	6995358	62598777	128555499	117	24326											
TMPRSS11A	339967	broad.mit.edu	37	chr4	68810254	68810254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccaaattttcggtcgtctCtcgtaagtccttaagttgat	9	15	7	10	3	1	1	0	1	1	0	6	1	2	1	2	1	0	2	2	1	3	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:68810254C>T	ENST00000508048.1	-	3	267	c.232G>A	c.(232-234)Gag>Aag	p.E78K	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.E79K|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.E79K			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	79	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCGGTCGTCTCTCGTAAGTCC	0.338													4	124					0	0	0	0	T	68810254	C	T	68810254	3	4	127	1	0	0	0	0	1	0	0	0	16333	922	32	2	1062	2	TMPRSS11A	4	68810254	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	6211477	68810254	122344022	118	24327											
TMPRSS11A	339967	broad.mit.edu	37	chr4	68812202	68812202	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccaggagacctatggtCactgccaccactgtcaggga	11	7	11	12	0	2	2	2	1	0	1	2	4	2	3	4	3	2	0	4	3	2	1	rs147036994		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:68812202C>A	ENST00000508048.1	-	2	131	c.96G>T	c.(94-96)gtG>gtT	p.V32V	TMPRSS11A_ENST00000396188.2_Silent_p.V33V|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000334830.7_Silent_p.V33V			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	33					cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GACCTATGGTCACTGCCACCA	0.408													7	79					5.4927e-09	5.6282e-09	1	0	A	68812202	C	A	68812202	2	1	127	1	0	0	0	0	0	0	0	1	16333	813	29	2		2	TMPRSS11A	4	68812202	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1948	68812202	122342074	119	24328											
SLC4A4	8671	broad.mit.edu	37	chr4	72215774	72215774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatcgggaggcttcttctCtcccacagttggtgggtaag	6	13	13	9	1	2	1	0	1	2	0	5	2	3	2	1	4	0	3	1	4	1	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:72215774C>T	ENST00000340595.3	+	2	599	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F	SLC4A4_ENST00000264485.5_Missense_Mutation_p.L179F|SLC4A4_ENST00000425175.1_Missense_Mutation_p.L179F|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.L179F|SLC4A4_ENST00000512686.1_Missense_Mutation_p.L135F	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	179						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GGCTTCTTCTCTCCCACAGTT	0.453													21	155					0	0	0	0	T	72215774	C	T	72215774	3	4	127	1	0	0	0	0	1	0	0	0	14744	913	32	2	670	2	SLC4A4	4	72215774	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3403572	72215774	118938502	120	24329											
SEC31A	22872	broad.mit.edu	37	chr4	83784530	83784530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtattttccacgagaatCatcctcaaagtttaccttta	13	14	5	9	1	2	1	2	0	0	1	4	2	4	1	3	1	1	2	3	1	6	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:83784530C>T	ENST00000432794.1	-	12	1613	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	SEC31A_ENST00000448323.1_Missense_Mutation_p.D484N|SEC31A_ENST00000505984.1_Missense_Mutation_p.D484N|SEC31A_ENST00000513858.1_Missense_Mutation_p.D484N|SEC31A_ENST00000508502.1_Missense_Mutation_p.D484N|SEC31A_ENST00000395310.2_Missense_Mutation_p.D484N|SEC31A_ENST00000326950.5_Missense_Mutation_p.D484N|SEC31A_ENST00000264405.5_Missense_Mutation_p.D256N|SEC31A_ENST00000509142.1_Missense_Mutation_p.D484N|SEC31A_ENST00000443462.2_Missense_Mutation_p.D479N|SEC31A_ENST00000505472.1_Missense_Mutation_p.D484N|SEC31A_ENST00000348405.4_Missense_Mutation_p.D484N|SEC31A_ENST00000508479.1_Missense_Mutation_p.D484N|SEC31A_ENST00000500777.2_Missense_Mutation_p.D484N|SEC31A_ENST00000355196.2_Missense_Mutation_p.D484N|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000311785.7_Missense_Mutation_p.D484N			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	484					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CCACGAGAATCATCCTCAAAG	0.308													7	138					0	0	0	0	T	83784530	C	T	83784530	3	4	127	1	0	0	0	0	1	0	0	0	14085	826	29	2	2276	2	SEC31A	4	83784530	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	11568756	83784530	107369746	121	24330											
ANK2	287	broad.mit.edu	37	chr4	114276810	114276810	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cacctacaggactgactgagGaggcagcctgtgatgaaggt	11	7	14	9	0	0	4	0	4	0	0	0	6	0	6	2	4	2	1	2	4	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:114276810G>C	ENST00000357077.4	+	38	7089	c.7036G>C	c.(7036-7038)Gag>Cag	p.E2346Q	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2313Q|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2313					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTGACTGAGGAGGCAGCCTG	0.488													4	47					0	0	0	0	C	114276810	G	C	114276810	3	2	127	1	0	0	0	0	1	0	0	0	621	1175	41	2	7251	2	ANK2	4	114276810	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	30492280	114276810	76877466	122	24331											
CAMK2D	817	broad.mit.edu	37	chr4	114381309	114381309	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaataaatgtaccattttCaaagtagaatcggtgaaaat	18	11	8	4	1	1	2	1	1	0	1	2	3	1	3	1	2	1	2	1	2	9	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:114381309C>G	ENST00000454265.2	-	18	2131	c.1273G>C	c.(1273-1275)Gaa>Caa	p.E425Q	CAMK2D_ENST00000505990.1_Missense_Mutation_p.E434Q|CAMK2D_ENST00000511664.1_Missense_Mutation_p.E434Q|CAMK2D_ENST00000342666.5_Missense_Mutation_p.E400Q|CAMK2D_ENST00000394526.2_Missense_Mutation_p.E411Q|CAMK2D_ENST00000508738.1_Missense_Mutation_p.E411Q|CAMK2D_ENST00000379773.2_Missense_Mutation_p.E400Q|CAMK2D_ENST00000418639.2_Missense_Mutation_p.E414Q|CAMK2D_ENST00000394522.3_Missense_Mutation_p.E414Q|CAMK2D_ENST00000394524.3_Missense_Mutation_p.E400Q|CAMK2D_ENST00000429180.1_Missense_Mutation_p.E420Q|CAMK2D_ENST00000514328.1_Missense_Mutation_p.E399Q|CAMK2D_ENST00000515496.1_Missense_Mutation_p.E411Q|CAMK2D_ENST00000296402.5_Missense_Mutation_p.E400Q			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	400					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		GTACCATTTTCAAAGTAGAAT	0.343													5	108					0	0	0	0	G	114381309	C	G	114381309	3	3	127	1	0	0	0	0	1	0	0	0	2626	835	29	2	325	2	CAMK2D	4	114381309	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	104499	114381309	76772967	123	24332											
ANXA5	308	broad.mit.edu	37	chr4	122605900	122605900	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attacttcgggatgtcaacaGagtcaggatgctctcctcat	10	12	9	10	1	4	1	3	0	1	1	6	3	4	3	1	2	3	1	1	2	2	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:122605900G>A	ENST00000296511.5	-	4	406	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000501272.2_Intron	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	41					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						GATGTCAACAGAGTCAGGATG	0.468													8	137					0	0	0	0	A	122605900	G	A	122605900	2	1	127	1	0	0	0	0	0	0	0	1	720	933	33	2		2	ANXA5	4	122605900	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	8224591	122605900	68548376	124	24333											
KIAA1109	84162	broad.mit.edu	37	chr4	123267827	123267827	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatatgatatgcgccgactCagtgaaattctggcatttcc	12	12	8	9	2	2	2	1	2	1	0	3	3	3	2	2	1	1	1	2	1	4	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:123267827C>T	ENST00000264501.4	+	75	13156	c.12783C>T	c.(12781-12783)ctC>ctT	p.L4261L	KIAA1109_ENST00000388738.3_Silent_p.L4261L			Q2LD37	K1109_HUMAN	KIAA1109	4261					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGCGCCGACTCAGTGAAATTC	0.353													6	188					0	0	0	0	T	123267827	C	T	123267827	2	4	127	1	0	0	0	0	0	0	0	1	8259	813	29	2		2	KIAA1109	4	123267827	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	661927	123267827	67886449	125	24334											
KIAA1109	84162	broad.mit.edu	37	chr4	123275103	123275103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agataacaaggcgtcgccatGaaaatccaccccatggagta	15	6	9	11	2	0	2	0	1	0	1	2	3	1	3	4	2	1	1	4	2	5	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:123275103G>A	ENST00000264501.4	+	82	14609	c.14236G>A	c.(14236-14238)Gaa>Aaa	p.E4746K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E4746K			Q2LD37	K1109_HUMAN	KIAA1109	4746					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCGTCGCCATGAAAATCCACC	0.388													5	68					0	0	0	0	A	123275103	G	A	123275103	3	1	127	1	0	0	0	0	1	0	0	0	8259	1291	45	2	14554	2	KIAA1109	4	123275103	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	7276	123275103	67879173	126	24335											
FAT4	79633	broad.mit.edu	37	chr4	126408688	126408688	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccaccctactcaggacttCggtggccttgatgtgcttac	7	12	9	13	1	1	1	1	1	0	0	3	2	2	2	3	3	3	1	3	3	2	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:126408688C>T	ENST00000394329.3	+	16	13018	c.13005C>T	c.(13003-13005)ttC>ttT	p.F4335F	FAT4_ENST00000335110.5_Silent_p.F2576F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4335	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTCAGGACTTCGGTGGCCTTG	0.418													8	106					0	0	0	0	T	126408688	C	T	126408688	2	4	127	1	0	0	0	0	0	0	0	1	5737	883	31	1		1	FAT4	4	126408688	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3133585	126408688	64745588	127	24336											
PLK4	10733	broad.mit.edu	37	chr4	128806873	128806873	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctaacagctcgacacttCatgcaccagatcatcacagg	13	8	6	14	1	3	1	3	0	0	1	5	2	4	1	2	1	3	2	2	1	1	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:128806873C>T	ENST00000270861.5	+	5	622	c.348C>T	c.(346-348)ttC>ttT	p.F116F	PLK4_ENST00000514379.1_Silent_p.F75F|PLK4_ENST00000507249.1_Silent_p.F116F|PLK4_ENST00000515069.1_Silent_p.F116F|PLK4_ENST00000513090.1_Silent_p.F84F	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	116	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CTCGACACTTCATGCACCAGA	0.368													13	173					0	0	0	0	T	128806873	C	T	128806873	2	4	127	1	0	0	0	0	0	0	0	1	12170	825	29	2		2	PLK4	4	128806873	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2398185	128806873	62347403	128	24337											
TLR2	7097	broad.mit.edu	37	chr4	154626061	154626061	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggagctggagaacttcaatCcccccttcaagttgtgtctt	9	12	9	11	0	3	1	2	0	1	1	4	3	4	2	3	2	2	2	3	2	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:154626061C>G	ENST00000260010.6	+	1	3410	c.2002C>G	c.(2002-2004)Ccc>Gcc	p.P668A		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	668	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GAACTTCAATCCCCCCTTCAA	0.463													4	139					0	0	0	0	G	154626061	C	G	154626061	3	3	127	1	0	0	0	0	1	0	0	0	16045	855	30	2	2004	2	TLR2	4	154626061	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	25819188	154626061	36528215	129	24338											
DCHS2	54798	broad.mit.edu	37	chr4	155254071	155254071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttgtgtcatcggtgagaGagactcactgacttccactt	9	13	9	10	1	2	3	2	2	0	2	4	5	3	3	1	1	0	0	1	1	0	3	rs72966165	by1000genomes	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:155254071G>A	ENST00000357232.3	-	9	1791	c.1792C>T	c.(1792-1794)Ctc>Ttc	p.L598F	DCHS2_ENST00000339452.1_Missense_Mutation_p.L1097F	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	598	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCGGTGAGAGAGACTCACTG	0.562													10	79					0	0	0	0	A	155254071	G	A	155254071	3	1	127	1	0	0	0	0	1	0	0	0	4320	942	33	2	7122	2	DCHS2	4	155254071	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	628010	155254071	35900205	130	24339											
NEK1	4750	broad.mit.edu	37	chr4	170400599	170400599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttacagaaataacagatctCatctgttgctttgatggaga	13	13	9	6	0	2	4	1	1	2	3	3	5	2	4	0	1	3	3	0	1	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:170400599C>T	ENST00000439128.2	-	22	2650	c.2010G>A	c.(2008-2010)atG>atA	p.M670I	NEK1_ENST00000510533.1_Missense_Mutation_p.M626I|NEK1_ENST00000507142.1_Missense_Mutation_p.M698I|NEK1_ENST00000511633.1_Missense_Mutation_p.M654I|NEK1_ENST00000512193.1_Missense_Mutation_p.M601I	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	670					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TAACAGATCTCATCTGTTGCT	0.378													9	110					0	0	0	0	T	170400599	C	T	170400599	3	4	127	1	0	0	0	0	1	0	0	0	10391	826	29	2	1818	2	NEK1	4	170400599	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	15146528	170400599	20753677	131	24340											
GALNT7	51809	broad.mit.edu	37	chr4	174242759	174242759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatttactcatattccttCaggaaagtgtttagatcgct	11	15	7	8	1	2	2	2	0	0	2	4	3	3	3	1	1	1	2	1	1	4	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:174242759C>T	ENST00000265000.4	+	12	1948	c.1865C>T	c.(1864-1866)tCa>tTa	p.S622L		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	622	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CATATTCCTTCAGGAAAGTGT	0.373													6	93					0	0	0	0	T	174242759	C	T	174242759	3	4	127	1	0	0	0	0	1	0	0	0	6267	838	29	2	1911	2	GALNT7	4	174242759	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3842160	174242759	16911517	132	24341											
SCRG1	11341	broad.mit.edu	37	chr4	174309513	174309513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattgattgttgcaaggaatCacgaaagagatctttggtcc	12	12	10	7	1	2	2	1	1	1	1	3	5	3	3	1	2	1	2	1	2	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:174309513C>T	ENST00000296506.2	-	3	758	c.276G>A	c.(274-276)gtG>gtA	p.V92V		NM_007281.2	NP_009212.1	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1	92					nervous system development	extracellular space				large_intestine(1)|lung(4)|skin(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		TGCAAGGAATCACGAAAGAGA	0.353													7	107					0	0	0	0	T	174309513	C	T	174309513	2	4	127	1	0	0	0	0	0	0	0	1	14023	813	29	2		2	SCRG1	4	174309513	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	66754	174309513	16844763	133	24342											
ENPP6	133121	broad.mit.edu	37	chr4	185012400	185012400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacaggcggggcagtgctgGcgcggcccttcagcatgcac	7	5	16	13	3	1	1	1	0	0	1	1	1	1	1	1	5	3	4	1	5	0	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:185012400G>A	ENST00000296741.2	-	8	1394	c.1253C>T	c.(1252-1254)gCc>gTc	p.A418V		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	418					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GGCAGTGCTGGCGCGGCCCTT	0.562													6	73					0	0	0	0	A	185012400	G	A	185012400	3	1	127	1	0	0	0	0	1	0	0	0	5172	1203	42	4	73	4	ENPP6	4	185012400	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	10702887	185012400	6141876	134	24343											
TLR3	7098	broad.mit.edu	37	chr4	187004931	187004931	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgatacatcatcttgcaaAgacagtgccccctttgaact	11	13	6	11	0	2	3	1	2	1	1	2	3	2	3	2	0	4	1	2	0	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr4:187004931A>G	ENST00000296795.2	+	4	2195	c.2091A>G	c.(2089-2091)aaA>aaG	p.K697K	TLR3_ENST00000504367.1_Silent_p.K420K	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	697	LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CATCTTGCAAAGACAGTGCCC	0.428													43	318					0	0	0	0	G	187004931	A	G	187004931	2	3	127	1	0	0	0	0	0	0	0	1	16046	69	3	5		5	TLR3	4	187004931	Silent	SNP	A	TCGA-CN-A6V1-01A-12D-A34J-08	1992531	187004931	4149345	135	24344											
SEMA5A	9037	broad.mit.edu	37	chr5	9052003	9052003	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgggatgaaattagagtCaaacacacacggccggctct	13	7	10	11	2	2	2	1	1	1	1	2	3	2	3	2	3	1	1	2	3	3	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:9052003C>G	ENST00000382496.5	-	20	3492	c.2827G>C	c.(2827-2829)Gac>Cac	p.D943H		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	943	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AAATTAGAGTCAAACACACAC	0.502													4	76					0	0	0	0	G	9052003	C	G	9052003	3	3	127	1	0	0	0	0	1	0	0	0	14124	826	29	2	413	2	SEMA5A	5	9052003	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08		9052003	171863257	136	24345											
NPR3	4883	broad.mit.edu	37	chr5	32724823	32724823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgatcatgtgtgcgagCagtgacaccatccggagcat	9	9	14	9	2	1	2	1	2	0	0	2	4	2	3	2	2	3	2	2	2	0	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:32724823C>T	ENST00000265074.8	+	2	1132	c.789C>T	c.(787-789)agC>agT	p.S263S	NPR3_ENST00000434067.2_Silent_p.S47S|NPR3_ENST00000415167.2_Silent_p.S263S|NPR3_ENST00000415685.2_Silent_p.S47S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	263					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TGTGTGCGAGCAGTGACACCA	0.537													8	53					0	0	0	0	T	32724823	C	T	32724823	2	4	127	1	0	0	0	0	0	0	0	1	10667	709	25	4		4	NPR3	5	32724823	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	23672820	32724823	148190437	137	24346											
NIPBL	25836	broad.mit.edu	37	chr5	37027509	37027509	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actggtttgagcaactgcttCaaaacgtgagtgttcttttg	9	15	10	7	1	2	2	1	2	1	0	2	2	2	2	0	1	4	4	0	1	3	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:37027509C>T	ENST00000282516.8	+	32	6356	c.5857C>T	c.(5857-5859)Caa>Taa	p.Q1953*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Q1953*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1953					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCAACTGCTTCAAAACGTGAG	0.313													19	106					0	0	0	0	T	37027509	C	T	37027509	4	4	127	1	0	0	0	0	0	1	0	0	10498	827	29	2	5979	2	NIPBL	5	37027509	Nonsense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	4302686	37027509	143887751	138	24347											
CARD6	84674	broad.mit.edu	37	chr5	40841605	40841605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctcggaggctgatttctGaggaagagtatgagactctg	9	12	13	7	1	3	4	0	3	3	2	4	7	3	6	0	3	0	2	0	3	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:40841605G>A	ENST00000254691.5	+	1	320	c.121G>A	c.(121-123)Gag>Aag	p.E41K	CARD6_ENST00000381677.3_Missense_Mutation_p.E41K	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	41	CARD.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GCTGATTTCTGAGGAAGAGTA	0.408													5	91					0	0	0	0	A	40841605	G	A	40841605	3	1	127	1	0	0	0	0	1	0	0	0	2675	1291	45	2	123	2	CARD6	5	40841605	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3814096	40841605	140073655	139	24348											
PARP8	79668	broad.mit.edu	37	chr5	50091226	50091226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattggtatcctaacaccatCttcatcttcatcttctcagc	9	16	3	13	0	6	0	3	0	4	0	8	0	7	0	2	1	2	1	2	1	3	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:50091226C>G	ENST00000281631.5	+	12	1561	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.S468C|PARP8_ENST00000514342.2_Missense_Mutation_p.S221C|PARP8_ENST00000505697.2_Missense_Mutation_p.S468C|PARP8_ENST00000503750.2_Missense_Mutation_p.S468C|PARP8_ENST00000505554.1_Missense_Mutation_p.S447C	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	468	Poly-Ser.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTAACACCATCTTCATCTTCA	0.408													6	70					0	0	0	0	G	50091226	C	G	50091226	3	3	127	1	0	0	0	0	1	0	0	0	11536	913	32	2	1449	2	PARP8	5	50091226	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	9249621	50091226	130824034	140	24349											
DEPDC1B	55789	broad.mit.edu	37	chr5	59982922	59982922	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacttcagggccgaagttttGactgcacctcagcagctcat	9	10	9	13	1	3	1	3	1	0	0	3	2	3	1	2	1	3	4	2	1	1	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:59982922G>C	ENST00000265036.5	-	2	248	c.181C>G	c.(181-183)Caa>Gaa	p.Q61E	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.Q61E|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.Q34E	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	61	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.Q61K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CCGAAGTTTTGACTGCACCTC	0.488													4	153					0	0	0	0	C	59982922	G	C	59982922	3	2	127	1	0	0	0	0	1	0	0	0	4477	1299	45	2	1448	2	DEPDC1B	5	59982922	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	9891696	59982922	120932338	141	24350											
NLN	57486	broad.mit.edu	37	chr5	65084006	65084006	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagagtttattttgaatttGaagaaaaaggaatgcaaaga	18	11	10	2	1	0	5	0	2	0	3	0	7	0	6	0	1	1	2	0	1	7	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:65084006G>A	ENST00000380985.5	+	8	1198	c.1020G>A	c.(1018-1020)ttG>ttA	p.L340L	NLN_ENST00000502464.1_Silent_p.L236L	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	340					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TTTTGAATTTGAAGAAAAAGG	0.358													11	142					0	0	0	0	A	65084006	G	A	65084006	2	1	127	1	0	0	0	0	0	0	0	1	10537	1281	45	2		2	NLN	5	65084006	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	5101084	65084006	115831254	142	24351											
ZNF366	167465	broad.mit.edu	37	chr5	71756606	71756606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgtccacgtagtagctgtCatcgatctgcacgttcacgt	8	11	9	13	5	3	0	2	0	1	0	5	1	4	0	1	0	2	5	1	0	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:71756606C>G	ENST00000318442.5	-	2	1208	c.718G>C	c.(718-720)Gac>Cac	p.D240H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TAGTAGCTGTCATCGATCTGC	0.632													7	185					0	0	0	0	G	71756606	C	G	71756606	3	3	127	1	0	0	0	0	1	0	0	0	17965	826	29	2	1532	2	ZNF366	5	71756606	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	6672600	71756606	109158654	143	24352											
GCNT4	51301	broad.mit.edu	37	chr5	74325489	74325489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagcttttctcctcctttGagacaagcttttgagcataa	10	14	8	9	0	1	2	0	2	1	1	3	4	2	3	2	1	3	3	2	1	3	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:74325489G>A	ENST00000322348.4	-	1	1235	c.374C>T	c.(373-375)tCa>tTa	p.S125L		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	125					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTCCTCCTTTGAGACAAGCTT	0.403													11	141					0	0	0	0	A	74325489	G	A	74325489	3	1	127	1	0	0	0	0	1	0	0	0	6352	1294	45	2	991	2	GCNT4	5	74325489	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2568883	74325489	106589771	144	24353											
DMGDH	29958	broad.mit.edu	37	chr5	78359574	78359574	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actgtttctgctctgtctttCcattgtgtttctgcagataa	6	19	7	9	0	4	1	0	0	4	1	5	1	5	1	1	0	2	4	1	0	1	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:78359574C>T	ENST00000255189.3	-	2	166	c.138G>A	c.(136-138)tgG>tgA	p.W46*	DMGDH_ENST00000520388.1_Intron|DMGDH_ENST00000540686.1_5'UTR|DMGDH_ENST00000380311.4_Missense_Mutation_p.E2K	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	46					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CTCTGTCTTTCCATTGTGTTT	0.463													7	133					0	0	0	0	T	78359574	C	T	78359574	4	4	127	1	0	0	0	0	0	1	0	0	4618	856	30	2	2522	2	DMGDH	5	78359574	Nonsense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	4034085	78359574	102555686	145	24354											
PAPD4	167153	broad.mit.edu	37	chr5	78936984	78936984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatttggtacccggagcagtGatggtgatttatgcctagtt	8	14	13	6	1	0	2	0	2	0	0	0	4	0	3	2	3	3	3	2	3	3	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:78936984G>A	ENST00000453514.1	+	6	1330	c.637G>A	c.(637-639)Gat>Aat	p.D213N	PAPD4_ENST00000423041.2_Missense_Mutation_p.D213N|PAPD4_ENST00000504233.1_Missense_Mutation_p.D213N|PAPD4_ENST00000296783.3_Missense_Mutation_p.D213N|PAPD4_ENST00000428308.2_Missense_Mutation_p.D213N	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	213					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CCGGAGCAGTGATGGTGATTT	0.323													11	358					0	0	0	0	A	78936984	G	A	78936984	3	1	127	1	0	0	0	0	1	0	0	0	11495	1290	45	2	655	2	PAPD4	5	78936984	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	577410	78936984	101978276	146	24355											
YTHDC2	64848	broad.mit.edu	37	chr5	112871475	112871475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctctttataagatattttgGaagttgtccagtgatatata	12	18	7	4	0	1	2	0	1	1	1	3	3	2	3	1	1	0	1	1	1	7	10			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:112871475G>A	ENST00000161863.4	+	7	1295	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	YTHDC2_ENST00000515883.1_Missense_Mutation_p.G361E	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	361	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGATATTTTGGAAGTTGTCCA	0.299													3	35					0	0	0	0	A	112871475	G	A	112871475	3	1	127	1	0	0	0	0	1	0	0	0	17593	1174	41	2	1108	2	YTHDC2	5	112871475	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	33934491	112871475	68043785	147	24356											
ADAMTS19	171019	broad.mit.edu	37	chr5	129070703	129070703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacaggaagacatggaaatGaatgtttttcctcagaaaaa	17	10	8	6	0	2	3	2	1	0	2	3	5	3	5	1	2	0	1	1	2	5	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:129070703G>A	ENST00000274487.4	+	22	3518	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1125	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACATGGAAATGAATGTTTTTC	0.418													6	97					0	0	0	0	A	129070703	G	A	129070703	3	1	127	1	0	0	0	0	1	0	0	0	264	1291	45	2	3459	2	ADAMTS19	5	129070703	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	16199228	129070703	51844557	148	24357											
FAM13B	51306	broad.mit.edu	37	chr5	137342716	137342716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgattccaggatgttttCagtcatccttaattgtacca	10	17	6	8	0	2	1	2	1	0	0	4	2	4	2	3	1	1	2	3	1	2	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:137342716C>T	ENST00000033079.3	-	7	1262	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	FAM13B_ENST00000420893.2_Missense_Mutation_p.E271K|FAM13B_ENST00000425075.2_Missense_Mutation_p.E153K	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	271					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AGGATGTTTTCAGTCATCCTT	0.378													7	136					0	0	0	0	T	137342716	C	T	137342716	3	4	127	1	0	0	0	0	1	0	0	0	5494	835	29	2	2074	2	FAM13B	5	137342716	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	8272013	137342716	43572544	149	24358											
CXXC5	51523	broad.mit.edu	37	chr5	139061005	139061005	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagaaaatgtgaggaactCaaaaagaagccttccgctgc	15	8	9	9	1	2	3	2	1	0	2	3	4	3	4	2	1	3	1	2	1	6	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:139061005C>G	ENST00000302517.3	+	2	1611	c.897C>G	c.(895-897)ctC>ctG	p.L299L	CXXC5_ENST00000511048.1_Silent_p.L299L|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	299					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGGAACTCAAAAAGAAGC	0.567													5	156					0	0	0	0	G	139061005	C	G	139061005	2	3	127	1	0	0	0	0	0	0	0	1	4131	813	29	2		2	CXXC5	5	139061005	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1718289	139061005	41854255	150	24359											
PCDHA3	56145	broad.mit.edu	37	chr5	140180825	140180825	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctggagcccagtgcctgCtgctttctcttctgctcctc	3	14	8	16	0	2	0	0	0	2	0	6	1	4	1	4	1	5	3	4	1	0	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:140180825C>G	ENST00000522353.2	+	1	43	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.L15V|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTGCCTGCTGCTTTCTCT	0.512													7	115					0	0	0	0	G	140180825	C	G	140180825	3	3	127	1	0	0	0	0	1	0	0	0	11596	796	28	4	45	4	PCDHA3	5	140180825	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1119820	140180825	40734435	151	24360											
PCDHB13	56123	broad.mit.edu	37	chr5	140594698	140594698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctggaaaatgcaccgttCtgattcaagtgatagatgtg	11	14	10	6	1	3	3	1	2	2	1	3	4	3	4	1	1	1	2	1	1	4	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:140594698C>T	ENST00000341948.4	+	1	1190	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		335	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGCACCGTTCTGATTCAAGT	0.423													22	256					0	0	0	0	T	140594698	C	T	140594698	2	4	127	1	0	0	0	0	0	0	0	1	11609	912	32	2		2	PCDHB13	5	140594698	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	413873	140594698	40320562	152	24361											
PCDHB15	56121	broad.mit.edu	37	chr5	140625549	140625549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcattctcctgagtttcctGaaagagaaatgaccctgaaa	14	11	7	9	0	2	5	1	4	1	1	4	6	3	5	3	0	0	1	3	0	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:140625549G>A	ENST00000231173.3	+	1	403	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		135					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGTTTCCTGAAAGAGAAAT	0.418													7	157					0	0	0	0	A	140625549	G	A	140625549	3	1	127	1	0	0	0	0	1	0	0	0	11611	1291	45	2	405	2	PCDHB15	5	140625549	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	30851	140625549	40289711	153	24362											
STK32A	202374	broad.mit.edu	37	chr5	146730662	146730662	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagatttcaacattgctgcGatgctgcccagggagacaca	12	8	10	11	1	1	2	1	0	0	2	1	4	1	2	1	1	5	2	1	1	1	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:146730662G>A	ENST00000397936.3	+	7	840	c.507G>A	c.(505-507)gcG>gcA	p.A169A	STK32A_ENST00000398523.3_Silent_p.A169A	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	169	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATTGCTGCGATGCTGCCCA	0.463													5	89					0	0	0	0	A	146730662	G	A	146730662	2	1	127	1	0	0	0	0	0	0	0	1	15387	1045	37	1		1	STK32A	5	146730662	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	6105113	146730662	34184598	154	24363											
HAVCR2	84868	broad.mit.edu	37	chr5	156533768	156533768	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggacacatctcctttgcgGaaatccccatttagccagta	11	10	8	12	1	1	0	0	0	1	0	3	2	2	2	4	2	2	1	4	2	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:156533768G>A	ENST00000307851.4	-	2	994	c.264C>T	c.(262-264)ttC>ttT	p.F88F	HAVCR2_ENST00000517358.1_5'UTR|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.F88F	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	88	Ig-like V-type.					integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCCTTTGCGGAAATCCCCAT	0.473													13	132					0	0	0	0	A	156533768	G	A	156533768	2	1	127	1	0	0	0	0	0	0	0	1	7024	1165	41	2		2	HAVCR2	5	156533768	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	9803106	156533768	24381492	155	24364											
HAVCR2	84868	broad.mit.edu	37	chr5	156533909	156533909	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggttccctggggcggctggGgtgtagaagcagggcagata	8	7	19	7	1	0	2	0	0	0	2	1	2	1	2	1	7	1	5	1	7	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:156533909G>A	ENST00000307851.4	-	2	853	c.123C>T	c.(121-123)acC>acT	p.T41T	HAVCR2_ENST00000517358.1_5'UTR|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.T41T	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	41	Ig-like V-type.					integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGCGGCTGGGGTGTAGAAGC	0.577													5	130					0	0	0	0	A	156533909	G	A	156533909	2	1	127	1	0	0	0	0	0	0	0	1	7024	1219	43	4		4	HAVCR2	5	156533909	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	141	156533909	24381351	156	24365											
FAM71B	153745	broad.mit.edu	37	chr5	156589669	156589669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgaggctccttaaaaaaGagctgatcttactggctttc	10	12	8	11	0	1	3	0	2	1	1	3	3	2	3	2	2	2	3	2	2	4	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr5:156589669G>C	ENST00000302938.4	-	2	1702	c.1607C>G	c.(1606-1608)tCt>tGt	p.S536C		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	536						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTTAAAAAAGAGCTGATCTT	0.463													4	93					0	0	0	0	C	156589669	G	C	156589669	3	2	127	1	0	0	0	0	1	0	0	0	5654	942	33	2	214	2	FAM71B	5	156589669	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	55760	156589669	24325591	157	24366											
EXOC2	55770	broad.mit.edu	37	chr6	549252	549252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggaaggtgtgacgttctaGatagcagcaattacttagga	13	11	12	5	1	1	2	0	1	1	1	1	4	1	4	0	3	3	3	0	3	7	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:549252G>C	ENST00000230449.4	-	22	2296	c.2161C>G	c.(2161-2163)Cta>Gta	p.L721V	EXOC2_ENST00000448181.3_Missense_Mutation_p.L316V	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	721					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TGACGTTCTAGATAGCAGCAA	0.378													13	155					0	0	0	0	C	549252	G	C	549252	3	2	127	1	0	0	0	0	1	0	0	0	5339	933	33	2	641	2	EXOC2	6	549252	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08		549252	170565815	158	24367											
SIRT5	23408	broad.mit.edu	37	chr6	13584426	13584426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagcgtccacacgaaaccaGatttgcctgaaaatggctcg	12	7	9	13	3	0	2	0	1	0	1	2	3	1	2	4	1	3	1	4	1	3	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:13584426G>C	ENST00000606117.1	+	3	380	c.84G>C	c.(82-84)caG>caC	p.Q28H	SIRT5_ENST00000379262.4_Missense_Mutation_p.Q28H|SIRT5_ENST00000397350.2_5'UTR|SIRT5_ENST00000359782.3_Missense_Mutation_p.Q28H	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	28					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	CACGAAACCAGATTTGCCTGA	0.483													6	89					0	0	0	0	C	13584426	G	C	13584426	3	2	127	1	0	0	0	0	1	0	0	0	14429	933	33	2	86	2	SIRT5	6	13584426	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	13035174	13584426	157530641	159	24368											
BTN2A2	10385	broad.mit.edu	37	chr6	26393148	26393148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtggggtcatggtgcctGaagagggcctgaaacttcac	9	8	14	10	0	2	3	2	2	0	1	2	3	2	3	3	4	2	0	3	4	2	1	rs114098566	by1000genomes	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:26393148G>A	ENST00000356709.4	+	8	1636	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000416795.2_Missense_Mutation_p.E509K|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000352867.2_Missense_Mutation_p.E393K|BTN2A2_ENST00000482536.1_Missense_Mutation_p.E299K	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	509					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CATGGTGCCTGAAGAGGGCCT	0.552													7	67					0	0	0	0	A	26393148	G	A	26393148	3	1	127	1	0	0	0	0	1	0	0	0	1570	1291	45	2	1551	2	BTN2A2	6	26393148	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	12808722	26393148	144721919	160	24369											
BTN2A2	10385	broad.mit.edu	37	chr6	26393159	26393159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtgcctgaagagggcctGaaacttcacagagtggggac	11	7	15	8	0	1	4	1	2	0	2	1	5	1	5	2	4	2	0	2	4	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:26393159G>A	ENST00000356709.4	+	8	1647	c.1536G>A	c.(1534-1536)ctG>ctA	p.L512L	BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000416795.2_Silent_p.L512L|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000352867.2_Silent_p.L396L|BTN2A2_ENST00000482536.1_Silent_p.L302L	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	512					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						AAGAGGGCCTGAAACTTCACA	0.562													5	53					0	0	0	0	A	26393159	G	A	26393159	2	1	127	1	0	0	0	0	0	0	0	1	1570	1277	45	2		2	BTN2A2	6	26393159	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	11	26393159	144721908	161	24370											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100308	27100308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggcgggaagcctcacctgcGatgcgctcgaaaatgtcgtt	9	8	13	11	5	1	0	1	0	0	0	3	3	1	1	2	2	3	2	2	2	3	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:27100308G>C	ENST00000607124.1	-	1	221	c.222C>G	c.(220-222)atC>atG	p.I74M	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.I74M|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.I74M			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	74					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CCTCACCTGCGATGCGCTCGA	0.582													5	196					0	0	0	0	C	27100308	G	C	27100308	3	2	127	1	0	0	0	0	1	0	0	0	7199	1048	37	3	162	3	HIST1H2BJ	6	27100308	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	707149	27100308	144014759	162	24371											
OR2B6	26212	broad.mit.edu	37	chr6	27925696	27925696	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttattgtccgagcagtattGaggatacagtctgctgaagg	10	13	12	6	1	1	2	0	2	1	0	2	4	2	3	1	2	3	3	1	2	4	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:27925696G>A	ENST00000244623.1	+	1	678	c.678G>A	c.(676-678)ttG>ttA	p.L226L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGCAGTATTGAGGATACAGT	0.428													8	234					0	0	0	0	A	27925696	G	A	27925696	2	1	127	1	0	0	0	0	0	0	0	1	11062	1281	45	2		2	OR2B6	6	27925696	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	825388	27925696	143189371	163	24372											
TRIM27	5987	broad.mit.edu	37	chr6	28872323	28872323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagacacagggaaacaGattgaacctctcggggttgt	12	7	12	10	1	1	3	0	1	1	2	2	4	1	4	2	3	2	1	2	3	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:28872323G>T	ENST00000377199.3	-	8	1422	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	356	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CAGGGAAACAGATTGAACCTC	0.542			T	RET	papillary thyroid								10	45					0.00621372	0.00627179	1	0	T	28872323	G	T	28872323	3	4	127	1	0	0	0	0	1	0	0	0	16596	933	33	2	479	2	TRIM27	6	28872323	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	946627	28872323	142242744	164	24373											
HLA-A	3105	broad.mit.edu	37	chr6	29912276	29912276	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcccctcttttcccaGagctgtcttcccagcccacc	5	11	4	21	0	2	1	0	0	2	1	5	1	5	1	7	0	2	1	7	0	0	4	rs45540334		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:29912276G>T	ENST00000396634.1	+	7	1236		c.e7-1		HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site			P30443	1A01_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.?(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCTTTTCCCAGAGCTGTCTTC	0.587									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	85					0.00909568	0.00916356	1	0	T	29912276	G	T	29912276	5	4	127	1	0	0	0	0	0	0	1	0	7245	956	33	2	913	2	HLA-A	6	29912276	Splice_Site	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1039953	29912276	141202791	165	24374											
TRIM15	89870	broad.mit.edu	37	chr6	30138306	30138306	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagacttttgtgagtcctGaggccatttctcctgacctt	7	15	9	10	0	1	5	0	4	1	1	3	5	2	5	4	1	0	0	4	1	1	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:30138306G>C	ENST00000376694.4	+	5	1229	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	254					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TGTGAGTCCTGAGGCCATTTC	0.473													7	86					0	0	0	0	C	30138306	G	C	30138306	3	2	127	1	0	0	0	0	1	0	0	0	16585	1291	45	2	778	2	TRIM15	6	30138306	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	226030	30138306	140976761	166	24375											
DHX16	8449	broad.mit.edu	37	chr6	30640519	30640519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagaggtgcagcgctgtgCggtaccgatcagaaactggg	9	6	17	9	3	1	2	1	0	0	2	1	3	1	2	1	4	5	4	1	4	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:30640519C>T	ENST00000376442.3	-	1	295	c.100G>A	c.(100-102)Gca>Aca	p.A34T		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	34					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						CAGCGCTGTGCGGTACCGATC	0.662													4	63					0	0	0	0	T	30640519	C	T	30640519	3	4	127	1	0	0	0	0	1	0	0	0	4539	768	27	1	3105	1	DHX16	6	30640519	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	502213	30640519	140474548	167	24376											
CLIC1	1192	broad.mit.edu	37	chr6	31701363	31701363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcattgagtgctgggtttGaattcttgatgtaggcagaa	9	15	13	4	0	2	4	1	3	1	1	2	4	2	4	0	2	1	4	0	2	3	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:31701363G>A	ENST00000375780.2	-	5	934	c.362C>T	c.(361-363)tCa>tTa	p.S121L	CLIC1_ENST00000395892.1_Missense_Mutation_p.S121L|CLIC1_ENST00000375784.3_Missense_Mutation_p.S121L|CLIC1_ENST00000375779.2_Missense_Mutation_p.S121L			O00299	CLIC1_HUMAN	chloride intracellular channel 1	121	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						TGCTGGGTTTGAATTCTTGAT	0.537													5	51					0	0	0	0	A	31701363	G	A	31701363	3	1	127	1	0	0	0	0	1	0	0	0	3555	1294	45	2	375	2	CLIC1	6	31701363	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1060844	31701363	139413704	168	24377											
ATF6B	1388	broad.mit.edu	37	chr6	32085106	32085106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacccgccctacctgtctCtcctgggccctctgagggat	4	9	10	18	1	2	1	0	1	2	0	4	2	3	2	6	2	1	0	6	2	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:32085106C>T	ENST00000375201.4	-	14	1644	c.1599G>A	c.(1597-1599)gaG>gaA	p.E533E	ATF6B_ENST00000375203.3_Silent_p.E536E			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	536					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CTACCTGTCTCTCCTGGGCCC	0.597													5	36					0	0	0	0	T	32085106	C	T	32085106	2	4	127	1	0	0	0	0	0	0	0	1	1089	912	32	2		2	ATF6B	6	32085106	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	383743	32085106	139029961	169	24378											
NOTCH4	4855	broad.mit.edu	37	chr6	32185850	32185850	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcagggagctgaggcacactCgttggtctccacctcacaga	9	7	12	13	1	2	2	1	1	1	1	4	3	2	3	2	3	1	4	2	3	0	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:32185850C>G	ENST00000375023.3	-	9	1684	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	516	EGF-like 13; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGGCACACTCGTTGGTCTCC	0.607													3	17					0	0	0	0	G	32185850	C	G	32185850	3	3	127	1	0	0	0	0	1	0	0	0	10621	893	31	3	4553	3	NOTCH4	6	32185850	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	100744	32185850	138929217	170	24379											
DAXX	1616	broad.mit.edu	37	chr6	33286925	33286925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggccaaggaagccaaggggGaaggtgggctgggcagggta	10	3	22	6	0	0	0	0	0	0	0	0	2	0	2	2	8	1	3	2	8	5	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:33286925G>A	ENST00000374542.5	-	7	2216	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	DAXX_ENST00000266000.6_Missense_Mutation_p.S671F|DAXX_ENST00000414083.2_Missense_Mutation_p.S596F	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	671	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGCCAAGGGGGAAGGTGGGCT	0.542			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								7	108					0	0	0	0	A	33286925	G	A	33286925	3	1	127	1	0	0	0	0	1	0	0	0	4276	1174	41	2	218	2	DAXX	6	33286925	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1101075	33286925	137828142	171	24380											
DAXX	1616	broad.mit.edu	37	chr6	33287244	33287244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctccccagttgtgaggaGagacgcctccattgaaggaa	12	8	11	10	1	1	3	0	2	1	1	3	6	2	5	4	2	0	1	4	2	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:33287244G>A	ENST00000374542.5	-	6	2057	c.1853C>T	c.(1852-1854)tCt>tTt	p.S618F	DAXX_ENST00000266000.6_Missense_Mutation_p.S618F|DAXX_ENST00000414083.2_Missense_Mutation_p.S543F	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	618	Interaction with MAP3K5.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GTTGTGAGGAGAGACGCCTCC	0.493			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								4	145					0	0	0	0	A	33287244	G	A	33287244	3	1	127	1	0	0	0	0	1	0	0	0	4276	942	33	2	381	2	DAXX	6	33287244	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	319	33287244	137827823	172	24381											
ZBTB9	221504	broad.mit.edu	37	chr6	33424102	33424102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatgctgaccttcagccttCggccttttggctgtggcatc	4	14	10	13	1	2	1	2	1	0	0	4	1	2	1	3	3	2	3	3	3	0	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:33424102C>T	ENST00000395064.2	+	2	1493	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						CTTCAGCCTTCGGCCTTTTGG	0.567													7	41					0	0	0	0	T	33424102	C	T	33424102	3	4	127	1	0	0	0	0	1	0	0	0	17653	875	31	1	1227	1	ZBTB9	6	33424102	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	136858	33424102	137690965	173	24382											
UBR2	23304	broad.mit.edu	37	chr6	42620295	42620295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggttaacattttgcagtCagatgtcatgttgtgcatca	9	15	9	8	0	3	1	3	0	0	1	3	1	3	1	1	1	3	4	1	1	1	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:42620295C>T	ENST00000372899.1	+	25	2939	c.2681C>T	c.(2680-2682)tCa>tTa	p.S894L	UBR2_ENST00000372901.1_Missense_Mutation_p.S894L|UBR2_ENST00000372883.3_Missense_Mutation_p.S398L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	894					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATTTTGCAGTCAGATGTCATG	0.448													16	230					0	0	0	0	T	42620295	C	T	42620295	3	4	127	1	0	0	0	0	1	0	0	0	16998	838	29	2	2925	2	UBR2	6	42620295	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	9196193	42620295	128494772	174	24383											
PGK2	5232	broad.mit.edu	37	chr6	49754123	49754123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgatcttggctccctcttCatcaaacagggaagcaccaa	13	8	7	13	1	4	0	2	0	2	0	5	2	5	1	2	2	3	2	2	2	4	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:49754123C>T	ENST00000304801.3	-	1	930	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	260					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCTCCCTCTTCATCAAACAGG	0.403													5	211					0	0	0	0	T	49754123	C	T	49754123	3	4	127	1	0	0	0	0	1	0	0	0	11863	835	29	2	479	2	PGK2	6	49754123	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	7133828	49754123	121360944	175	24384											
IL17A	3605	broad.mit.edu	37	chr6	52053869	52053869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagccgcaatgaggaccctGagagatatccctctgtgatc	10	8	11	12	1	1	4	0	3	1	1	3	6	2	5	3	1	1	2	3	1	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:52053869G>C	ENST00000340057.1	+	3	292	c.247G>C	c.(247-249)Gag>Cag	p.E83Q		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	83					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					TGAGGACCCTGAGAGATATCC	0.502													4	32					0	0	0	0	C	52053869	G	C	52053869	3	2	127	1	0	0	0	0	1	0	0	0	7687	1291	45	2	257	2	IL17A	6	52053869	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2299746	52053869	119061198	176	24385											
GCLC	2729	broad.mit.edu	37	chr6	53370645	53370645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccatccaatgtctgagtttgGaggagggggcttaaatctca	10	11	12	8	0	2	1	1	1	2	0	4	3	3	3	2	4	0	2	2	4	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:53370645G>A	ENST00000229416.6	-	11	1729	c.1246C>T	c.(1246-1248)Cca>Tca	p.P416S	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	416					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	TCTGAGTTTGGAGGAGGGGGC	0.423													6	126					0	0	0	0	A	53370645	G	A	53370645	3	1	127	1	0	0	0	0	1	0	0	0	6344	1174	41	2	691	2	GCLC	6	53370645	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1316776	53370645	117744422	177	24386											
BAI3	577	broad.mit.edu	37	chr6	70048882	70048882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtttcaacaacagctttgtCagccaccaccgccagtaacg	12	8	7	14	2	2	0	2	0	0	0	2	0	2	0	4	0	5	3	4	0	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:70048882C>T	ENST00000370598.1	+	25	4084	c.3263C>T	c.(3262-3264)tCa>tTa	p.S1088L	BAI3_ENST00000546190.1_Missense_Mutation_p.S52L|BAI3_ENST00000238918.8_Missense_Mutation_p.S294L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1088					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACAGCTTTGTCAGCCACCACC	0.418													8	200					0	0	0	0	T	70048882	C	T	70048882	3	4	127	1	0	0	0	0	1	0	0	0	1304	838	29	2	3353	2	BAI3	6	70048882	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	16678237	70048882	101066185	178	24387											
TTK	7272	broad.mit.edu	37	chr6	80718147	80718147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgactactttcaaatggccaGagcaaactgcaagaaatttg	15	10	8	8	0	1	3	1	1	0	2	1	3	1	3	1	1	4	2	1	1	5	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:80718147G>C	ENST00000509894.1	+	4	1236	c.407G>C	c.(406-408)aGa>aCa	p.R136T	TTK_ENST00000369798.2_Missense_Mutation_p.R136T|TTK_ENST00000230510.3_Missense_Mutation_p.R136T			P33981	TTK_HUMAN	TTK protein kinase	136					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAATGGCCAGAGCAAACTGC	0.303													9	190					0	0	0	0	C	80718147	G	C	80718147	3	2	127	1	0	0	0	0	1	0	0	0	16816	942	33	2	417	2	TTK	6	80718147	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	10669265	80718147	90396920	179	24388											
REV3L	5980	broad.mit.edu	37	chr6	111694120	111694120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtaaaagaggtattggctGagtcaagagactgtcccatt	13	10	11	7	0	1	3	1	1	0	2	2	4	2	3	1	2	0	3	1	2	4	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:111694120G>A	ENST00000435970.1	-	15	6020	c.5204C>T	c.(5203-5205)tCa>tTa	p.S1735L	REV3L_ENST00000358835.3_Missense_Mutation_p.S1813L|REV3L_ENST00000368805.1_Missense_Mutation_p.S1813L|REV3L_ENST00000368802.3_Missense_Mutation_p.S1813L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1813					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGTATTGGCTGAGTCAAGAGA	0.423								DNA polymerases (catalytic subunits)					11	199					0	0	0	0	A	111694120	G	A	111694120	3	1	127	1	0	0	0	0	1	0	0	0	13322	1294	45	2	4034	2	REV3L	6	111694120	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	30975973	111694120	59420947	180	24389											
ARHGAP18	93663	broad.mit.edu	37	chr6	129929118	129929118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaagagcttcagcaggCtggcggcatcatgctgtttg	9	10	14	8	1	2	2	2	1	0	1	2	3	2	2	0	3	3	6	0	3	2	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:129929118C>T	ENST00000368149.2	-	9	1290	c.1202G>A	c.(1201-1203)aGc>aAc	p.S401N		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	401	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.S401N(1)		NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTTCAGCAGGCTGGCGGCATC	0.458													6	94					0	0	0	0	T	129929118	C	T	129929118	3	4	127	1	0	0	0	0	1	0	0	0	870	797	28	4	817	4	ARHGAP18	6	129929118	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	18234998	129929118	41185949	181	24390											
ENPP3	5169	broad.mit.edu	37	chr6	132068003	132068003	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccgtgatgtagaacttctCactgggcttgacttctatca	8	14	9	10	1	3	3	2	2	2	1	5	3	4	3	1	1	1	2	1	1	3	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:132068003C>T	ENST00000414305.1	+	26	2863	c.2535C>T	c.(2533-2535)ctC>ctT	p.L845L	ENPP3_ENST00000357639.3_Silent_p.L845L|ENPP3_ENST00000358229.5_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	845	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TAGAACTTCTCACTGGGCTTG	0.388													10	164					0	0	0	0	T	132068003	C	T	132068003	2	4	127	1	0	0	0	0	0	0	0	1	5169	813	29	2		2	ENPP3	6	132068003	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2138885	132068003	39047064	182	24391											
FBXO5	26271	broad.mit.edu	37	chr6	153293475	153293475	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgattggataacttggtttGagcatcttttttgagagaag	10	17	11	3	0	1	4	0	3	1	1	1	6	1	5	0	2	2	2	0	2	2	8			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:153293475G>C	ENST00000367241.3	-	4	1266	c.886C>G	c.(886-888)Caa>Gaa	p.Q296E	FBXO5_ENST00000229758.3_Missense_Mutation_p.Q342E|FBXO5_ENST00000477822.1_5'UTR	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	342	F-box.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		AACTTGGTTTGAGCATCTTTT	0.368													5	105					0	0	0	0	C	153293475	G	C	153293475	3	2	127	1	0	0	0	0	1	0	0	0	5803	1299	45	2	327	2	FBXO5	6	153293475	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	21225472	153293475	17821592	183	24392											
GTF2H5	404672	broad.mit.edu	37	chr6	158613079	158613079	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggggaagaagttcatcattCaagacattgatgacactcac	14	10	9	8	0	4	4	4	2	0	2	4	5	4	5	0	2	0	1	0	2	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:158613079C>G	ENST00000607778.1	+	3	184	c.106C>G	c.(106-108)Caa>Gaa	p.Q36E		NM_207118.2	NP_997001.1	Q6ZYL4	TF2H5_HUMAN	general transcription factor IIH, polypeptide 5	36					nucleotide-excision repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding						Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;5.98e-18)|BRCA - Breast invasive adenocarcinoma(81;2.83e-05)		GTTCATCATTCAAGACATTGA	0.423								Nucleotide excision repair (NER)					11	111					0	0	0	0	G	158613079	C	G	158613079	3	3	127	1	0	0	0	0	1	0	0	0	6916	827	29	2	112	2	GTF2H5	6	158613079	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	5319604	158613079	12501988	184	24393											
PDE10A	10846	broad.mit.edu	37	chr6	165806202	165806202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtgtgctacagtgaccGcatgcttccagttgtgataa	9	12	11	9	1	0	2	0	2	0	0	1	2	1	2	2	0	4	5	2	0	2	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:165806202G>A	ENST00000366882.1	-	17	1713	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	520					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.A520V(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TACAGTGACCGCATGCTTCCA	0.438													8	74					0	0	0	0	A	165806202	G	A	165806202	3	1	127	1	0	0	0	0	1	0	0	0	11701	1087	38	1	808	1	PDE10A	6	165806202	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	7193123	165806202	5308865	185	24394											
RPS6KA2	6196	broad.mit.edu	37	chr6	166889325	166889325	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggcagagggccgttttctCacctgcagagtgtaagagag	9	8	16	8	1	1	3	1	0	1	3	2	4	1	3	2	3	1	4	2	3	1	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr6:166889325C>G	ENST00000366863.2	-	11	1127	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	RPS6KA2_ENST00000510118.1_Intron|RPS6KA2_ENST00000481261.2_Intron|RPS6KA2_ENST00000405189.3_Intron|RPS6KA2_ENST00000503859.1_Intron|RPS6KA2_ENST00000265678.4_Intron			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	0	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCCGTTTTCTCACCTGCAGAG	0.483													5	76					0	0	0	0	G	166889325	C	G	166889325	3	3	127	1	0	0	0	0	1	0	0	0	13736	841	29	2		2	RPS6KA2	6	166889325	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1083123	166889325	4225742	186	24395											
PRKAR1B	5575	broad.mit.edu	37	chr7	645871	645871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacatagaagttgtctccttCattccctgtaacaaaagaag	14	11	7	9	0	2	2	1	0	1	2	4	3	3	2	2	0	1	2	2	0	6	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:645871C>T	ENST00000406797.1	-	6	682	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E170K|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E170K|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E170K|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E170K|AC147651.4_ENST00000429872.1_RNA	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	170					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		TTGTCTCCTTCATTCCCTGTA	0.423													6	163					0	0	0	0	T	645871	C	T	645871	3	4	127	1	0	0	0	0	1	0	0	0	12584	835	29	2	661	2	PRKAR1B	7	645871	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08		645871	158492792	187	24396											
NUDT1	4521	broad.mit.edu	37	chr7	2290555	2290555	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccactcctgcttcagaaGaagaaattccacgggtactt	11	12	7	11	1	1	3	1	0	0	3	4	3	4	3	3	1	2	2	3	1	4	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:2290555G>C	ENST00000397049.1	+	5	561	c.459G>C	c.(457-459)aaG>aaC	p.K153N	NUDT1_ENST00000397048.1_Missense_Mutation_p.K153N|NUDT1_ENST00000397046.1_Missense_Mutation_p.K130N|NUDT1_ENST00000339737.2_Missense_Mutation_p.K130N|NUDT1_ENST00000356714.1_Missense_Mutation_p.K130N|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000343985.4_Missense_Mutation_p.K153N	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	171	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		TGCTTCAGAAGAAGAAATTCC	0.572								Modulation of nucleotide pools					11	287					0	0	0	0	C	2290555	G	C	2290555	3	2	127	1	0	0	0	0	1	0	0	0	10796	933	33	2	473	2	NUDT1	7	2290555	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1644684	2290555	156848108	188	24397											
RBAK	57786	broad.mit.edu	37	chr7	5104496	5104496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaaccttcaatttaaattCagccttcattagacatcgga	15	12	4	10	1	3	1	3	0	0	1	4	2	3	2	2	1	2	0	2	1	6	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:5104496C>T	ENST00000396912.1	+	5	1928	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.S470L|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	470	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AATTTAAATTCAGCCTTCATT	0.368													8	101					0	0	0	0	T	5104496	C	T	5104496	3	4	127	1	0	0	0	0	1	0	0	0	13182	838	29	2	1423	2	RBAK	7	5104496	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2813941	5104496	154034167	189	24398											
DNAH11	8701	broad.mit.edu	37	chr7	21904161	21904161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctactctcaagattttgttGagaaagaaagagatagaccc	15	11	8	7	0	2	5	1	1	2	5	3	7	2	5	1	0	1	1	1	0	5	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:21904161G>A	ENST00000328843.6	+	71	11434	c.11403G>A	c.(11401-11403)ttG>ttA	p.L3801L	DNAH11_ENST00000409508.3_Silent_p.L3794L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3801					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGATTTTGTTGAGAAAGAAAG	0.378									Kartagener syndrome				5	120					0	0	0	0	A	21904161	G	A	21904161	2	1	127	1	0	0	0	0	0	0	0	1	4636	1281	45	2		2	DNAH11	7	21904161	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	16799665	21904161	137234502	190	24399											
ANLN	54443	broad.mit.edu	37	chr7	36455439	36455439	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagtcacttccagtaacaGaaaaggtgaccgaaaaccag	16	6	8	11	1	2	2	2	1	0	1	3	3	3	2	3	1	2	1	3	1	5	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:36455439G>C	ENST00000265748.2	+	8	1689	c.1468G>C	c.(1468-1470)Gaa>Caa	p.E490Q	ANLN_ENST00000495714.1_Intron|ANLN_ENST00000396068.2_Missense_Mutation_p.E490Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	490	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TCCAGTAACAGAAAAGGTGAC	0.383													4	172					0	0	0	0	C	36455439	G	C	36455439	3	2	127	1	0	0	0	0	1	0	0	0	693	943	33	2	1498	2	ANLN	7	36455439	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	14551278	36455439	122683224	191	24400											
HECW1	23072	broad.mit.edu	37	chr7	43447198	43447198	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaagaaagggatgtttttCaacccagacccttatctgaa	13	12	8	8	0	2	4	1	2	1	2	2	5	2	5	2	1	1	1	2	1	5	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:43447198C>G	ENST00000395891.1	+	8	1274	c.669C>G	c.(667-669)ttC>ttG	p.F223L	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.F223L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	223	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGATGTTTTTCAACCCAGACC	0.428													3	50					0	0	0	0	G	43447198	C	G	43447198	3	3	127	1	0	0	0	0	1	0	0	0	7092	825	29	2	691	2	HECW1	7	43447198	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	6991759	43447198	115691465	192	24401											
NUDCD3	23386	broad.mit.edu	37	chr7	44524878	44524878	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatgtggtcaaaggttttGaatacctaaaatcaaacacc	15	10	7	9	0	2	1	2	1	0	0	2	1	2	1	3	2	2	1	3	2	6	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:44524878G>A	ENST00000355451.6	-	2	477	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	66										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CAAAGGTTTTGAATACCTAAA	0.418													7	78					0	0	0	0	A	44524878	G	A	44524878	2	1	127	1	0	0	0	0	0	0	0	1	10795	1281	45	2		2	NUDCD3	7	44524878	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1077680	44524878	114613785	193	24402											
ZNF479	90827	broad.mit.edu	37	chr7	57194303	57194303	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgaagttatcctcacccagGgagaccaggtttctgtagtt	9	12	10	10	0	2	2	1	1	1	1	3	3	3	2	3	2	0	4	3	2	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:57194303G>T	ENST00000331162.4	-	3	432	c.162C>A	c.(160-162)tcC>tcA	p.S54S		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCTCACCCAGGGAGACCAGGT	0.363													5	211					0.00116845	0.00118379	1	0	T	57194303	G	T	57194303	2	4	127	1	0	0	0	0	0	0	0	1	18028	1219	43	4		4	ZNF479	7	57194303	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	12669425	57194303	101944360	194	24403											
STAG3L4	64940	broad.mit.edu	37	chr7	66771028	66771028	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaccaggatgcaggatttCtggagcttgttaactttttc	10	14	10	7	0	1	1	0	0	1	1	2	4	1	4	1	3	3	3	1	3	2	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:66771028C>T	ENST00000416602.2	+	0	320					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TGCAGGATTTCTGGAGCTTGT	0.393													5	193					0	0	0	0	T	66771028	C	T	66771028	1	4	127	0	1	0	0	0	0	0	0	0	15337	912	32	2		2	STAG3L4	7	66771028	RNA	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	9576725	66771028	92367635	195	24404											
POM121	9883	broad.mit.edu	37	chr7	72413727	72413727	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctccactgctgtcttcttCggtgcagccaccagctccgg	4	10	11	16	2	2	0	0	0	2	0	5	0	4	0	4	3	4	4	4	3	0	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:72413727C>T	ENST00000395270.1	+	14	3441	c.2400C>T	c.(2398-2400)ttC>ttT	p.F800F	POM121_ENST00000434423.2_Silent_p.F1065F|POM121_ENST00000257622.4_Silent_p.F800F|POM121_ENST00000358357.3_Silent_p.F800F|POM121_ENST00000446813.1_Silent_p.F800F	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1065	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGTCTTCTTCGGTGCAGCCA	0.657													4	92					0	0	0	0	T	72413727	C	T	72413727	2	4	127	1	0	0	0	0	0	0	0	1	12311	883	31	1		1	POM121	7	72413727	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	5642699	72413727	86724936	196	24405											
MAGI2	9863	broad.mit.edu	37	chr7	78150787	78150787	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttccattgaccacaggcctCtcttcctcttcctcctcagg	5	14	5	17	0	3	1	1	1	2	0	8	1	7	1	6	2	0	0	6	2	0	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:78150787C>T	ENST00000354212.4	-	4	967	c.714G>A	c.(712-714)gaG>gaA	p.E238E	MAGI2_ENST00000536571.1_Silent_p.E70E|MAGI2_ENST00000535697.1_Silent_p.E75E|MAGI2_ENST00000522391.1_Silent_p.E238E|MAGI2_ENST00000517762.1_5'UTR|MAGI2_ENST00000419488.1_Silent_p.E238E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	238	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCACAGGCCTCTCTTCCTCTT	0.408													26	249					0	0	0	0	T	78150787	C	T	78150787	2	4	127	1	0	0	0	0	0	0	0	1	9260	912	32	2		2	MAGI2	7	78150787	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	5737060	78150787	80987876	197	24406											
ABCB4	5244	broad.mit.edu	37	chr7	87072740	87072740	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgcccactctgcaccttCaggttgaggcccttcaagat	7	11	9	14	0	4	2	2	1	2	1	4	2	4	2	3	2	2	2	3	2	1	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:87072740C>T	ENST00000265723.4	-	12	1362	c.1251G>A	c.(1249-1251)ctG>ctA	p.L417L	ABCB4_ENST00000358400.3_Silent_p.L417L|ABCB4_ENST00000545634.1_Silent_p.L417L|ABCB4_ENST00000359206.3_Silent_p.L417L|ABCB4_ENST00000453593.1_Silent_p.L417L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	417	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCTGCACCTTCAGGTTGAGGC	0.473													9	157					0	0	0	0	T	87072740	C	T	87072740	2	4	127	1	0	0	0	0	0	0	0	1	43	813	29	2		2	ABCB4	7	87072740	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	8921953	87072740	72065923	198	24407											
AKAP9	10142	broad.mit.edu	37	chr7	91682117	91682117	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatgtggtcaaaagtaactGaggaaggaacagagctgtca	16	7	12	6	0	2	2	2	1	0	1	2	4	2	4	0	3	3	2	0	3	5	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:91682117G>C	ENST00000359028.2	+	23	5707	c.5482G>C	c.(5482-5484)Gag>Cag	p.E1828Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E1828Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1816Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1828					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAAGTAACTGAGGAAGGAAC	0.393			T	BRAF	papillary thyroid								4	65					0	0	0	0	C	91682117	G	C	91682117	3	2	127	1	0	0	0	0	1	0	0	0	459	1291	45	2	5532	2	AKAP9	7	91682117	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	4609377	91682117	67456546	199	24408											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97949564	97949564	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtacattttcatcaagactCtcgttgagtttcttgtgggt	7	17	9	8	2	4	2	2	1	2	1	5	2	4	2	0	1	1	3	0	1	2	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:97949564C>G	ENST00000005260.8	-	4	476	c.261G>C	c.(259-261)gaG>gaC	p.E87D	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	87	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CATCAAGACTCTCGTTGAGTT	0.353													4	68					0	0	0	0	G	97949564	C	G	97949564	3	3	127	1	0	0	0	0	1	0	0	0	1306	912	32	2	1318	2	BAIAP2L1	7	97949564	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	6267447	97949564	61189099	200	24409											
TRRAP	8295	broad.mit.edu	37	chr7	98522761	98522761	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaactgctctggactgcctGaaaagcgccaacactgagcc	12	6	10	13	1	1	2	0	2	1	0	1	4	1	3	3	1	6	1	3	1	4	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:98522761G>A	ENST00000359863.4	+	22	3059	c.2850G>A	c.(2848-2850)ctG>ctA	p.L950L	TRRAP_ENST00000446306.3_Silent_p.L949L|TRRAP_ENST00000355540.3_Silent_p.L950L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	950					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGACTGCCTGAAAAGCGCCA	0.488													7	51					0	0	0	0	A	98522761	G	A	98522761	2	1	127	1	0	0	0	0	0	0	0	1	16696	1277	45	2		2	TRRAP	7	98522761	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	573197	98522761	60615902	201	24410											
ARPC1A	10552	broad.mit.edu	37	chr7	98961223	98961223	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaattttgcactactggCatcgatggagccatgacaat	12	10	9	10	2	0	1	0	1	0	0	1	3	0	2	1	2	3	3	1	2	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:98961223C>T	ENST00000432884.2	+	11	1361	c.900C>T	c.(898-900)ggC>ggT	p.G300G	ARPC1A_ENST00000262942.5_Silent_p.G347G			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	347					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			GCACTACTGGCATCGATGGAG	0.338													11	81					0	0	0	0	T	98961223	C	T	98961223	2	4	127	1	0	0	0	0	0	0	0	1	973	697	25	4		4	ARPC1A	7	98961223	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	438462	98961223	60177440	202	24411											
POLR2J	5439	broad.mit.edu	37	chr7	102119287	102119287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcgaagagcaagaacgactcGaaggctggaggggcgttcat	12	6	15	8	4	1	2	1	0	0	2	3	6	1	3	0	4	2	3	0	4	4	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:102119287G>C	ENST00000292614.5	-	1	67	c.21C>G	c.(19-21)ttC>ttG	p.F7L	POLR2J_ENST00000393794.3_Missense_Mutation_p.F7L	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa	7					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity			pancreas(2)	2						AGAACGACTCGAAGGCTGGAG	0.677											OREG0018232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	44					0	0	0	0	C	102119287	G	C	102119287	3	2	127	1	0	0	0	0	1	0	0	0	12295	1049	37	3	348	3	POLR2J	7	102119287	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3158064	102119287	57019376	203	24412											
IQUB	154865	broad.mit.edu	37	chr7	123152314	123152314	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgagggaactggaatagtGacagtatcaaaagcatcatc	15	9	10	7	0	3	2	2	2	1	0	4	4	3	4	0	2	2	2	0	2	6	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:123152314G>A	ENST00000466202.1	-	2	657	c.81C>T	c.(79-81)gtC>gtT	p.V27V	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Silent_p.V27V|IQUB_ENST00000434450.1_Silent_p.V27V			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	27										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTGGAATAGTGACAGTATCAA	0.373													7	122					0	0	0	0	A	123152314	G	A	123152314	2	1	127	1	0	0	0	0	0	0	0	1	7873	1277	45	2		2	IQUB	7	123152314	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	21033027	123152314	35986349	204	24413											
GPR37	2861	broad.mit.edu	37	chr7	124387288	124387288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaagtttggcagttgttGaggaacagttttcgatcatt	10	14	11	6	1	1	1	1	1	0	0	2	3	1	2	0	2	2	6	0	2	2	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:124387288G>A	ENST00000303921.2	-	2	1783	c.1133C>T	c.(1132-1134)tCa>tTa	p.S378L		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	378						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGCAGTTGTTGAGGAACAGTT	0.483													6	77					0	0	0	0	A	124387288	G	A	124387288	3	1	127	1	0	0	0	0	1	0	0	0	6740	1294	45	2	712	2	GPR37	7	124387288	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1234974	124387288	34751375	205	24414											
OR2A2	442361	broad.mit.edu	37	chr7	143806930	143806930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatgttggcaaacctaatGaaccagaaaagaaccatctc	18	7	7	9	0	1	4	0	1	1	3	2	4	1	4	3	1	3	2	3	1	7	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:143806930G>A	ENST00000408979.2	+	1	324	c.255G>A	c.(253-255)atG>atA	p.M85I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CAAACCTAATGAACCAGAAAA	0.428													7	220					0	0	0	0	A	143806930	G	A	143806930	3	1	127	1	0	0	0	0	1	0	0	0	11048	1290	45	2	257	2	OR2A2	7	143806930	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	19419642	143806930	15331733	206	24415											
CUL1	8454	broad.mit.edu	37	chr7	148457442	148457442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtggaattggggctgaatGaagatgatgcatttgcaaag	13	11	14	3	0	0	4	0	3	0	1	0	5	0	5	0	3	2	3	0	3	5	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:148457442G>A	ENST00000325222.4	+	7	922	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	CUL1_ENST00000602748.1_Missense_Mutation_p.E215K|CUL1_ENST00000409469.1_Missense_Mutation_p.E215K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	215					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGGGCTGAATGAAGATGATGC	0.348													27	111					0	0	0	0	A	148457442	G	A	148457442	3	1	127	1	0	0	0	0	1	0	0	0	4086	1291	45	2	665	2	CUL1	7	148457442	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	4650512	148457442	10681221	207	24416											
CUL1	8454	broad.mit.edu	37	chr7	148457514	148457514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaatctcaatttttggctGacacagagagattttatacc	12	15	7	7	0	1	4	1	2	1	2	2	5	1	4	1	1	1	1	1	1	4	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:148457514G>A	ENST00000325222.4	+	7	994	c.715G>A	c.(715-717)Gac>Aac	p.D239N	CUL1_ENST00000602748.1_Missense_Mutation_p.D239N|CUL1_ENST00000409469.1_Missense_Mutation_p.D239N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	239					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ATTTTTGGCTGACACAGAGAG	0.358													12	180					0	0	0	0	A	148457514	G	A	148457514	3	1	127	1	0	0	0	0	1	0	0	0	4086	1290	45	2	737	2	CUL1	7	148457514	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	72	148457514	10681149	208	24417											
UBE3C	9690	broad.mit.edu	37	chr7	157046701	157046701	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctgtcaccagcgccaaccgGattgcgtacatccacttggt	8	9	9	15	3	1	0	1	0	0	0	2	1	2	1	5	2	4	1	5	2	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr7:157046701G>C	ENST00000348165.5	+	20	3108	c.2748G>C	c.(2746-2748)cgG>cgC	p.R916R		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	916	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCGCCAACCGGATTGCGTACA	0.517													7	46					0	0	0	0	C	157046701	G	C	157046701	2	2	127	1	0	0	0	0	0	0	0	1	16977	1161	41	2		2	UBE3C	7	157046701	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	8589187	157046701	2091962	209	24418											
DLGAP2	9228	broad.mit.edu	37	chr8	1649519	1649519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccggcagaattccgcctccGagcgcgcggacagcatcgag	8	5	13	15	7	0	1	0	0	0	1	4	4	3	2	4	2	2	2	4	2	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:1649519G>A	ENST00000421627.2	+	12	3009	c.2875G>A	c.(2875-2877)Gag>Aag	p.E959K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	1038					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TTCCGCCTCCGAGCGCGCGGA	0.687													3	13					0	0	0	0	A	1649519	G	A	1649519	3	1	127	1	0	0	0	0	1	0	0	0	4597	1059	37	1	2917	1	DLGAP2	8	1649519	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08		1649519	144714503	210	24419											
MTMR7	9108	broad.mit.edu	37	chr8	17169112	17169112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccagccatcagaacagtGaacaagcacacttgcccctt	12	7	7	15	0	1	2	1	1	0	1	2	2	2	2	4	0	5	1	4	0	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:17169112G>A	ENST00000180173.5	-	9	1043	c.1009C>T	c.(1009-1011)Cac>Tac	p.H337Y	MTMR7_ENST00000521857.1_Missense_Mutation_p.H337Y|MTMR7_ENST00000398099.3_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	337	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCAGAACAGTGAACAAGCACA	0.537													30	380					0	0	0	0	A	17169112	G	A	17169112	3	1	127	1	0	0	0	0	1	0	0	0	10018	1290	45	2	997	2	MTMR7	8	17169112	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	15519593	17169112	129194910	211	24420											
FGL1	2267	broad.mit.edu	37	chr8	17722252	17722252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacaccattcaggtttgcaGagtgacacctagtggaaggg	12	9	12	8	0	1	2	1	1	0	1	1	3	1	3	2	3	2	2	2	3	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:17722252G>C	ENST00000398056.2	-	10	1603	c.788C>G	c.(787-789)tCt>tGt	p.S263C	FGL1_ENST00000381841.2_Missense_Mutation_p.S263C|FGL1_ENST00000522444.1_Missense_Mutation_p.S263C|FGL1_ENST00000381840.2_Missense_Mutation_p.S263C|FGL1_ENST00000518650.1_Missense_Mutation_p.S263C|FGL1_ENST00000427924.1_Missense_Mutation_p.S263C|FGL1_ENST00000398054.1_Missense_Mutation_p.S263C			Q08830	FGL1_HUMAN	fibrinogen-like 1	263	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CAGGTTTGCAGAGTGACACCT	0.408													8	38					0	0	0	0	C	17722252	G	C	17722252	3	2	127	1	0	0	0	0	1	0	0	0	5917	942	33	2	154	2	FGL1	8	17722252	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	553140	17722252	128641770	212	24421											
LOXL2	4017	broad.mit.edu	37	chr8	23160816	23160816	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tccttcacattctgtgtcctCcaagcagaagctggccttgt	7	13	8	13	0	2	1	1	0	1	1	5	1	5	1	4	1	2	2	4	1	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:23160816C>G	ENST00000389131.3	-	11	2344	c.1975G>C	c.(1975-1977)Gag>Cag	p.E659Q		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	659	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCTGTGTCCTCCAAGCAGAAG	0.597													4	68					0	0	0	0	G	23160816	C	G	23160816	3	3	127	1	0	0	0	0	1	0	0	0	8964	864	30	2	365	2	LOXL2	8	23160816	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	5438564	23160816	123203206	213	24422											
ELP3	55140	broad.mit.edu	37	chr8	27987062	27987062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtattggaattactattGaaaccagaccagattactgc	14	12	8	7	0	0	3	0	1	0	2	0	4	0	4	2	1	4	1	2	1	6	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:27987062G>C	ENST00000256398.8	+	8	1038	c.661G>C	c.(661-663)Gaa>Caa	p.E221Q	ELP3_ENST00000537665.1_Missense_Mutation_p.E102Q|ELP3_ENST00000542181.1_Missense_Mutation_p.E92Q|ELP3_ENST00000380353.4_Missense_Mutation_p.E129Q|ELP3_ENST00000524103.1_Missense_Mutation_p.E149Q|ELP3_ENST00000521015.1_Missense_Mutation_p.E207Q	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	221					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AATTACTATTGAAACCAGACC	0.398													4	160					0	0	0	0	C	27987062	G	C	27987062	3	2	127	1	0	0	0	0	1	0	0	0	5119	1291	45	2	691	2	ELP3	8	27987062	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	4826246	27987062	118376960	214	24423											
GPR124	25960	broad.mit.edu	37	chr8	37691311	37691311	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatgtagtctatgtggctCagatgatccagaaatttttg	10	15	11	5	0	2	3	1	1	1	2	3	4	3	4	1	2	0	2	1	2	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:37691311C>T	ENST00000315215.7	+	10	1765	c.1402C>T	c.(1402-1404)Cag>Tag	p.Q468*	GPR124_ENST00000412232.2_Nonsense_Mutation_p.Q468*			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	468					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTATGTGGCTCAGATGATCCA	0.527													5	73					0	0	0	0	T	37691311	C	T	37691311	4	4	127	1	0	0	0	0	0	1	0	0	6687	827	29	2	1419	2	GPR124	8	37691311	Nonsense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	9704249	37691311	108672711	215	24424											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732103	37732103	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcggttcagacttggactCtggctcagcttctggttctg	4	15	11	11	1	6	1	2	0	4	1	7	2	6	2	0	4	1	4	0	4	0	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:37732103C>G	ENST00000330843.4	-	3	1564	c.1552G>C	c.(1552-1554)Gag>Cag	p.E518Q	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.E370Q|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.E370Q|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.E518Q	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	518					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GACTTGGACTCTGGCTCAGCT	0.542													6	88					0	0	0	0	G	37732103	C	G	37732103	3	3	127	1	0	0	0	0	1	0	0	0	12975	922	32	2	2315	2	RAB11FIP1	8	37732103	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	40792	37732103	108631919	216	24425											
ANK1	286	broad.mit.edu	37	chr8	41559121	41559121	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgtctcagggaaactcattCgatgcttatcactgactaac	11	12	7	11	1	3	1	3	1	1	0	5	3	3	2	0	1	3	1	0	1	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:41559121C>G	ENST00000396942.1	-	22	2491	c.2408G>C	c.(2407-2409)cGa>cCa	p.R803P	ANK1_ENST00000396945.1_Missense_Mutation_p.R803P|ANK1_ENST00000265709.8_Missense_Mutation_p.R836P|ANK1_ENST00000289734.7_Missense_Mutation_p.R803P|ANK1_ENST00000347528.4_Missense_Mutation_p.R803P|ANK1_ENST00000352337.4_Missense_Mutation_p.R803P|ANK1_ENST00000379758.2_Missense_Mutation_p.R803P			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	803	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R803Q(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAAACTCATTCGATGCTTATC	0.488											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	83					0	0	0	0	G	41559121	C	G	41559121	3	3	127	1	0	0	0	0	1	0	0	0	620	884	31	3	3675	3	ANK1	8	41559121	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3827018	41559121	104804901	217	24426											
RIMS2	9699	broad.mit.edu	37	chr8	105260960	105260960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtgttcgcttggcctctGatagccagttcagtgatttc	5	15	11	10	1	2	2	1	2	1	0	4	2	2	2	2	2	1	3	2	2	1	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:105260960G>A	ENST00000507740.1	+	19	3186	c.2950G>A	c.(2950-2952)Gat>Aat	p.D984N	RIMS2_ENST00000406091.3_Missense_Mutation_p.D1170N|RIMS2_ENST00000262231.10_Missense_Mutation_p.D1009N|RIMS2_ENST00000436393.2_Missense_Mutation_p.D1188N|RIMS2_ENST00000339750.2_Missense_Mutation_p.D106N	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1232					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGGCCTCTGATAGCCAGTT	0.463										HNSCC(12;0.0054)			6	123					0	0	0	0	A	105260960	G	A	105260960	3	1	127	1	0	0	0	0	1	0	0	0	13453	1290	45	2	3786	2	RIMS2	8	105260960	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	63701839	105260960	41103062	218	24427											
RSPO2	340419	broad.mit.edu	37	chr8	108970488	108970488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgctccaatgaccaacttCacatccttctagtaaagatt	12	13	4	12	1	2	2	1	1	1	1	5	2	4	2	3	0	1	2	3	0	5	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:108970488C>T	ENST00000276659.5	-	5	1056	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	RSPO2_ENST00000378439.2_Missense_Mutation_p.E82K|RSPO2_ENST00000517939.1_Missense_Mutation_p.E79K|RSPO2_ENST00000517781.1_Missense_Mutation_p.E82K	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	146	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TGACCAACTTCACATCCTTCT	0.358													5	102					0	0	0	0	T	108970488	C	T	108970488	3	4	127	1	0	0	0	0	1	0	0	0	13795	835	29	2	303	2	RSPO2	8	108970488	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3709528	108970488	37393534	219	24428											
CSMD3	114788	broad.mit.edu	37	chr8	113395847	113395847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctcccccatcataaaagtCcagagaatcccaattatgtt	13	11	5	12	0	2	1	1	0	1	1	5	2	4	1	4	0	0	1	4	0	5	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:113395847C>T	ENST00000297405.5	-	37	6224	c.5980G>A	c.(5980-5982)Gac>Aac	p.D1994N	CSMD3_ENST00000352409.3_Missense_Mutation_p.D1924N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1954N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1890N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1994	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCATAAAAGTCCAGAGAATCC	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	91					0	0	0	0	T	113395847	C	T	113395847	3	4	127	1	0	0	0	0	1	0	0	0	3978	855	30	2	5283	2	CSMD3	8	113395847	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	4425359	113395847	32968175	220	24429											
MTBP	27085	broad.mit.edu	37	chr8	121500404	121500404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgtttttgtttagttccaGatgttgaagtgaaaggagag	11	16	12	2	0	0	4	0	2	0	2	1	5	1	4	1	1	0	4	1	1	3	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:121500404G>A	ENST00000305949.1	+	12	1216	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	391					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTAGTTCCAGATGTTGAAGT	0.328													9	77					0	0	0	0	A	121500404	G	A	121500404	3	1	127	1	0	0	0	0	1	0	0	0	9982	942	33	2	1217	2	MTBP	8	121500404	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	8104557	121500404	24863618	221	24430											
TG	7038	broad.mit.edu	37	chr8	133894785	133894785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttccttccaccttcactGaaaccaccctgtaccggata	10	10	4	17	1	1	1	1	1	0	0	3	2	3	2	7	1	2	1	7	1	3	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:133894785G>A	ENST00000220616.4	+	7	857	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	TG_ENST00000377869.1_Missense_Mutation_p.E273K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	273	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.E273*(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CACCTTCACTGAAACCACCCT	0.463													8	210					0	0	0	0	A	133894785	G	A	133894785	3	1	127	1	0	0	0	0	1	0	0	0	15907	1291	45	2	843	2	TG	8	133894785	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	12394381	133894785	12469237	222	24431											
SPATC1	375686	broad.mit.edu	37	chr8	145094865	145094865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacgagtcctcgaagaagtGgggatcatggccttggcacc	10	7	14	10	2	1	1	1	0	0	1	3	5	2	2	3	4	1	1	3	4	3	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr8:145094865G>A	ENST00000377470.3	+	2	369	c.267G>A	c.(265-267)gtG>gtA	p.V89V	SPATC1_ENST00000447830.2_Silent_p.V89V	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	89										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGAAGAAGTGGGGATCATGG	0.637													11	108					0	0	0	0	A	145094865	G	A	145094865	2	1	127	1	0	0	0	0	0	0	0	1	15107	1335	47	4		4	SPATC1	8	145094865	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	11200080	145094865	1269157	223	24432											
KIAA1432	57589	broad.mit.edu	37	chr9	5763450	5763450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatactcggaacaatgctaGagaacagctggaggtgctct	13	9	11	8	1	1	1	0	0	1	1	2	4	1	3	0	3	6	3	0	3	6	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:5763450G>A	ENST00000414202.2	+	19	2614	c.2423G>A	c.(2422-2424)aGa>aAa	p.R808K	KIAA1432_ENST00000251879.6_Missense_Mutation_p.R808K|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R729K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R729K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.R692K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	808						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AACAATGCTAGAGAACAGCTG	0.448													15	189					0	0	0	0	A	5763450	G	A	5763450	3	1	127	1	0	0	0	0	1	0	0	0	8284	942	33	2	2256	2	KIAA1432	9	5763450	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08		5763450	135449981	224	24433											
KIAA2026	158358	broad.mit.edu	37	chr9	5922222	5922222	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttcagaagaatcagcagtCtgttgtgcaaaacagttgaa	14	10	10	7	0	3	3	2	1	1	2	3	3	3	3	0	0	3	5	0	0	5	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:5922222C>T	ENST00000399933.3	-	8	3773	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	KIAA2026_ENST00000381461.2_Silent_p.Q1228Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1258										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AATCAGCAGTCTGTTGTGCAA	0.448													8	82					0	0	0	0	T	5922222	C	T	5922222	2	4	127	1	0	0	0	0	0	0	0	1	8321	912	32	2		2	KIAA2026	9	5922222	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	158772	5922222	135291209	225	24434											
GLDC	2731	broad.mit.edu	37	chr9	6606647	6606647	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggcaacggggatcaacgaGaaatttcctcctcttgttgt	9	12	11	9	2	2	1	1	0	1	1	4	3	4	2	2	3	2	2	2	3	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:6606647G>C	ENST00000321612.6	-	5	808	c.658C>G	c.(658-660)Ctc>Gtc	p.L220V		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	220					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GGATCAACGAGAAATTTCCTC	0.373													5	152					0	0	0	0	C	6606647	G	C	6606647	3	2	127	1	0	0	0	0	1	0	0	0	6484	942	33	2	2488	2	GLDC	9	6606647	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	684425	6606647	134606784	226	24435											
TEK	7010	broad.mit.edu	37	chr9	27209227	27209227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttaggagcatgtgaacatcGaggtaagatgctcttttcct	10	13	10	8	1	1	2	0	1	1	1	3	4	2	3	1	2	3	3	1	2	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:27209227G>A	ENST00000380036.4	+	16	3126	c.2684G>A	c.(2683-2685)cGa>cAa	p.R895Q	TEK_ENST00000406359.4_Missense_Mutation_p.R852Q|TEK_ENST00000519097.1_Missense_Mutation_p.R747Q	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	895	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TGTGAACATCGAGGTAAGATG	0.383													4	42					0	0	0	0	A	27209227	G	A	27209227	3	1	127	1	0	0	0	0	1	0	0	0	15845	1058	37	1	2746	1	TEK	9	27209227	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	20602580	27209227	114004204	227	24436											
FRMPD1	22844	broad.mit.edu	37	chr9	37745714	37745714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccagaggggatcaaggcaGaggcacctaaccatgtgaca	13	5	12	11	0	1	3	1	1	0	2	2	4	2	4	3	4	1	2	3	4	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:37745714G>C	ENST00000539465.1	+	16	4278	c.3685G>C	c.(3685-3687)Gag>Cag	p.E1229Q	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.E1229Q			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1229						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GATCAAGGCAGAGGCACCTAA	0.502													5	103					0	0	0	0	C	37745714	G	C	37745714	3	2	127	1	0	0	0	0	1	0	0	0	6105	943	33	2	3743	2	FRMPD1	9	37745714	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	10536487	37745714	103467717	228	24437											
TMEM2	23670	broad.mit.edu	37	chr9	74360248	74360248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agggtccttgccaacaacgtCcacgatgccttccgtgcccc	7	8	9	17	3	0	0	0	0	0	0	3	1	3	0	7	1	5	0	7	1	2	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:74360248C>G	ENST00000377044.4	-	4	1259	c.720G>C	c.(718-720)tgG>tgC	p.W240C	TMEM2_ENST00000377066.5_Missense_Mutation_p.W240C	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	240	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CCAACAACGTCCACGATGCCT	0.507													7	151					0	0	0	0	G	74360248	C	G	74360248	3	3	127	1	0	0	0	0	1	0	0	0	16215	856	30	2	3515	2	TMEM2	9	74360248	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	36614534	74360248	66853183	229	24438											
TLE1	7088	broad.mit.edu	37	chr9	84226786	84226786	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggcagcgcctgggctggtCagctcgccgttcatgccagc	5	8	14	14	3	2	0	2	0	0	0	3	0	2	0	3	3	4	4	3	3	1	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:84226786C>T	ENST00000376499.3	-	13	2216	c.1152G>A	c.(1150-1152)ctG>ctA	p.L384L	TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_Silent_p.L59L|TLE1_ENST00000376484.1_Silent_p.L59L	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	384	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CTGGGCTGGTCAGCTCGCCGT	0.672													4	57					0	0	0	0	T	84226786	C	T	84226786	2	4	127	1	0	0	0	0	0	0	0	1	16032	813	29	2		2	TLE1	9	84226786	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	9866538	84226786	56986645	230	24439											
RMI1	80010	broad.mit.edu	37	chr9	86617353	86617353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaatctttctattgccatGgatttgtattctccaccctt	8	19	4	10	0	3	0	0	0	3	0	4	1	3	1	3	1	1	1	3	1	3	8			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:86617353G>A	ENST00000325875.3	+	3	1784	c.1452G>A	c.(1450-1452)atG>atA	p.M484I		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	484					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CTATTGCCATGGATTTGTATT	0.318													5	150					0	0	0	0	A	86617353	G	A	86617353	3	1	127	1	0	0	0	0	1	0	0	0	13480	1348	47	4	1454	4	RMI1	9	86617353	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2390567	86617353	54596078	231	24440											
C9orf84	158401	broad.mit.edu	37	chr9	114538159	114538159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatgtgggtgtataaactGacctcctctacttcaatttg	9	15	7	10	0	2	1	1	1	1	0	4	1	4	1	3	1	2	1	3	1	5	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:114538159G>A	ENST00000374287.3	-	5	422	c.162C>T	c.(160-162)gtC>gtT	p.V54V	C9orf84_ENST00000318737.4_Silent_p.V54V|C9orf84_ENST00000374283.5_Silent_p.V118V			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	54										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGTATAAACTGACCTCCTCTA	0.373													7	101					0	0	0	0	A	114538159	G	A	114538159	2	1	127	1	0	0	0	0	0	0	0	1	2525	1277	45	2		2	C9orf84	9	114538159	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	27920806	114538159	26675272	232	24441											
SNX30	401548	broad.mit.edu	37	chr9	115593065	115593065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtttttcagaagagtttgtgGagaccagaagaaaagctttg	13	12	12	4	0	1	5	1	0	0	5	1	6	1	5	1	1	1	3	1	1	4	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:115593065G>A	ENST00000374232.3	+	4	684	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	174	PX.				cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGAGTTTGTGGAGACCAGAAG	0.368													8	120					0	0	0	0	A	115593065	G	A	115593065	3	1	127	1	0	0	0	0	1	0	0	0	14988	1175	41	2	534	2	SNX30	9	115593065	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1054906	115593065	25620366	233	24442											
OR1N2	138882	broad.mit.edu	37	chr9	125316290	125316290	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtatttacttcctccatCaacttactctacagagaggg	10	14	7	10	0	2	1	1	0	1	1	4	2	4	1	2	1	4	1	2	1	5	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:125316290C>G	ENST00000373688.2	+	1	900	c.842C>G	c.(841-843)tCa>tGa	p.S281*		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTTCCTCCATCAACTTACTCT	0.463													10	151					0	0	0	0	G	125316290	C	G	125316290	4	3	127	1	0	0	0	0	0	1	0	0	11041	838	29	2	844	2	OR1N2	9	125316290	Nonsense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	9723225	125316290	15897141	234	24443											
ZBTB6	10773	broad.mit.edu	37	chr9	125673418	125673418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcagatagttttcaacatGaagaaagcctcgaggacacc	14	7	10	10	2	1	3	1	1	0	2	2	5	1	4	2	1	2	2	2	1	4	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:125673418G>A	ENST00000373659.3	-	2	1022	c.934C>T	c.(934-936)Cat>Tat	p.H312Y		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TTTTCAACATGAAGAAAGCCT	0.418													9	134					0	0	0	0	A	125673418	G	A	125673418	3	1	127	1	0	0	0	0	1	0	0	0	17647	1290	45	2	344	2	ZBTB6	9	125673418	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	357128	125673418	15540013	235	24444											
OLFML2A	169611	broad.mit.edu	37	chr9	127549484	127549484	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaacgagtggaagatggaGaaactcaaaaagcaggcgcc	17	3	14	7	2	1	3	1	0	0	3	1	7	1	4	1	3	3	1	1	3	5	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:127549484G>A	ENST00000373580.3	+	2	321	c.321G>A	c.(319-321)gaG>gaA	p.E107E		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	107										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GGAAGATGGAGAAACTCAAAA	0.587													5	49					0	0	0	0	A	127549484	G	A	127549484	2	1	127	1	0	0	0	0	0	0	0	1	10928	933	33	2		2	OLFML2A	9	127549484	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1876066	127549484	13663947	236	24445											
SLC25A25	114789	broad.mit.edu	37	chr9	130854214	130854214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgggtgccacggctccaGagagggggacgatcgtgaag	8	5	19	9	3	0	2	0	1	0	1	2	5	1	3	2	5	1	2	2	5	1	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:130854214G>A	ENST00000373066.5	+	1	472	c.65G>A	c.(64-66)aGa>aAa	p.R22K	RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000432073.2_Missense_Mutation_p.R22K|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373069.5_Intron	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	0					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						CACGGCTCCAGAGAGGGGGAC	0.597													9	169					0	0	0	0	A	130854214	G	A	130854214	3	1	127	1	0	0	0	0	1	0	0	0	14576	942	33	2	332	2	SLC25A25	9	130854214	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3304730	130854214	10359217	237	24446											
SPTAN1	6709	broad.mit.edu	37	chr9	131348158	131348158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcccagcagtactttgctGatgctaacgaggctgaatcc	10	9	11	11	1	0	2	0	2	0	0	1	3	1	2	2	2	5	5	2	2	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr9:131348158G>A	ENST00000372739.3	+	19	2802	c.2692G>A	c.(2692-2694)Gat>Aat	p.D898N	SPTAN1_ENST00000372731.4_Missense_Mutation_p.D898N|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D898N	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	898					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTACTTTGCTGATGCTAACGA	0.572													11	82					0	0	0	0	A	131348158	G	A	131348158	3	1	127	1	0	0	0	0	1	0	0	0	15207	1290	45	2	2762	2	SPTAN1	9	131348158	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	493944	131348158	9865273	238	24447											
PFKP	5214	broad.mit.edu	37	chr10	3154456	3154456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggacgagaggagatttcaaGatgcggttcgactccgaggg	10	8	16	7	4	1	3	1	0	0	3	3	8	2	4	1	4	1	1	1	4	1	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:3154456G>C	ENST00000381075.2	+	13	1332	c.1108G>C	c.(1108-1110)Gat>Cat	p.D370H	PFKP_ENST00000381125.4_Missense_Mutation_p.D378H	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	378					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GAGATTTCAAGATGCGGTTCG	0.512													5	73					0	0	0	0	C	3154456	G	C	3154456	3	2	127	1	0	0	0	0	1	0	0	0	11838	942	33	2	1174	2	PFKP	10	3154456	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08		3154456	132380291	239	24448											
PITRM1	10531	broad.mit.edu	37	chr10	3180435	3180435	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccccactcacctatcgctCacggccaggagcttgtcgtg	6	9	9	17	3	2	0	2	0	0	0	5	1	3	1	4	2	1	2	4	2	1	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:3180435C>T	ENST00000380989.2	-	26	3053	c.3015G>A	c.(3013-3015)gtG>gtA	p.V1005V	PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Silent_p.V562V|PITRM1_ENST00000224949.4_Silent_p.V1004V|PITRM1_ENST00000451104.2_Silent_p.V906V	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	906					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ACCTATCGCTCACGGCCAGGA	0.592													4	47					0	0	0	0	T	3180435	C	T	3180435	2	4	127	1	0	0	0	0	0	0	0	1	12025	813	29	2		2	PITRM1	10	3180435	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	25979	3180435	132354312	240	24449											
PTER	9317	broad.mit.edu	37	chr10	16528557	16528557	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agggcaccatttcagattatCcgaatattgcaagaagcagg	14	9	10	8	1	1	2	1	0	0	2	2	3	2	2	2	2	2	3	2	2	5	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:16528557C>T	ENST00000378000.1	+	4	885	c.639C>T	c.(637-639)atC>atT	p.I213I	PTER_ENST00000423462.2_Silent_p.I213I|PTER_ENST00000535784.2_Silent_p.I213I|PTER_ENST00000298942.3_Silent_p.I213I|PTER_ENST00000485788.1_3'UTR	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	213					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TTCAGATTATCCGAATATTGC	0.478													6	98					0	0	0	0	T	16528557	C	T	16528557	2	4	127	1	0	0	0	0	0	0	0	1	12818	845	30	2		2	PTER	10	16528557	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	13348122	16528557	119006190	241	24450											
MASTL	84930	broad.mit.edu	37	chr10	27459503	27459503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatgtgtgaactcgatgaaGactgtgaaaagaatagtaag	16	11	11	3	1	0	5	0	3	0	2	1	6	0	5	0	0	1	1	0	0	8	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:27459503G>A	ENST00000375946.4	+	8	2218	c.1615G>A	c.(1615-1617)Gac>Aac	p.D539N	MASTL_ENST00000375940.4_Missense_Mutation_p.D539N|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.D539N	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	539	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTCGATGAAGACTGTGAAAA	0.313													6	107					0	0	0	0	A	27459503	G	A	27459503	3	1	127	1	0	0	0	0	1	0	0	0	9397	942	33	2	1645	2	MASTL	10	27459503	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	10930946	27459503	108075244	242	24451											
MASTL	84930	broad.mit.edu	37	chr10	27459638	27459638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctataatggaaagtccattaGaaagtcagcccttagattca	15	11	7	8	0	2	2	2	0	0	2	3	3	3	3	2	1	1	0	2	1	6	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:27459638G>A	ENST00000375946.4	+	8	2353	c.1750G>A	c.(1750-1752)Gaa>Aaa	p.E584K	MASTL_ENST00000375940.4_Missense_Mutation_p.E584K|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.E584K	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	584	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGTCCATTAGAAAGTCAGCC	0.318													4	97					0	0	0	0	A	27459638	G	A	27459638	3	1	127	1	0	0	0	0	1	0	0	0	9397	943	33	2	1780	2	MASTL	10	27459638	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	135	27459638	108075109	243	24452											
ARHGAP12	94134	broad.mit.edu	37	chr10	32128591	32128591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggtgctttggtgaggaggGagaagactcattttcaggaa	10	12	15	4	0	2	3	2	1	0	2	2	6	2	5	0	5	1	1	0	5	2	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:32128591G>A	ENST00000311380.4	-	5	1222	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S	ARHGAP12_ENST00000375250.5_Intron|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.P402S|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.P449S|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.P449S	NM_001270697.1|NM_001270699.1	NP_001257626.1|NP_001257628.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	449					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GGTGAGGAGGGAGAAGACTCA	0.308													5	52					0	0	0	0	A	32128591	G	A	32128591	3	1	127	1	0	0	0	0	1	0	0	0	867	1174	41	2	1247	2	ARHGAP12	10	32128591	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	4668953	32128591	103406156	244	24453											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648292	62648292	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttccctgtgcatgccaatGaaccccttactccatccggt	8	12	6	15	1	0	1	0	1	0	0	3	1	3	1	6	1	4	1	6	1	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:62648292G>A	ENST00000337910.5	-	6	1471	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	RHOBTB1_ENST00000357917.4_Silent_p.F378F	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	378	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GCATGCCAATGAACCCCTTAC	0.557													6	110					0	0	0	0	A	62648292	G	A	62648292	2	1	127	1	0	0	0	0	0	0	0	1	13416	1281	45	2		2	RHOBTB1	10	62648292	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	30519701	62648292	72886455	245	24454											
ECD	11319	broad.mit.edu	37	chr10	74914175	74914175	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaaggaagcagtgtgctcGatgaagtgaggcctgaattt	11	10	15	5	1	0	3	0	3	0	0	1	6	0	5	1	3	2	2	1	3	4	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:74914175G>A	ENST00000372979.4	-	6	828	c.622C>T	c.(622-624)Cga>Tga	p.R208*	ECD_ENST00000454759.1_Nonsense_Mutation_p.R208*|ECD_ENST00000430082.1_Nonsense_Mutation_p.R208*	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	208					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					CAGTGTGCTCGATGAAGTGAG	0.443													5	63					0	0	0	0	A	74914175	G	A	74914175	4	1	127	1	0	0	0	0	0	1	0	0	4924	1066	37	1	1451	1	ECD	10	74914175	Nonsense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	12265883	74914175	60620572	246	24455											
COMTD1	118881	broad.mit.edu	37	chr10	76994481	76994481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgtcgaaggtgccggcctCgcccgccgccagcagctcgt	5	5	13	18	7	0	0	0	0	0	0	3	1	0	0	5	2	3	2	5	2	1	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:76994481C>T	ENST00000372538.3	-	6	605	c.523G>A	c.(523-525)Gag>Aag	p.E175K	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	175						integral to membrane	O-methyltransferase activity			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					GTGCCGGCCTCGCCCGCCGCC	0.746													5	12					0	0	0	0	T	76994481	C	T	76994481	3	4	127	1	0	0	0	0	1	0	0	0	3756	893	31	1	273	1	COMTD1	10	76994481	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2080306	76994481	58540266	247	24456											
CYP2C18	1562	broad.mit.edu	37	chr10	96447916	96447916	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatggaaagagatggaaggaGatccggcgtttctgcctcat	12	9	13	7	2	2	2	1	0	1	2	3	6	3	4	2	4	1	1	2	4	3	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:96447916G>C	ENST00000285979.6	+	3	565	c.366G>C	c.(364-366)gaG>gaC	p.E122D	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.E122D	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GATGGAAGGAGATCCGGCGTT	0.517													15	114					0	0	0	0	C	96447916	G	C	96447916	3	2	127	1	0	0	0	0	1	0	0	0	4197	933	33	2	376	2	CYP2C18	10	96447916	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	19453435	96447916	39086831	248	24457											
CHUK	1147	broad.mit.edu	37	chr10	101969423	101969423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgtctctgaaagaagttCttgagaaccagtatttattc	11	15	7	8	0	2	3	0	2	2	2	5	4	3	3	2	0	1	2	2	0	5	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:101969423C>T	ENST00000370397.7	-	10	1143	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	353					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		GAAAGAAGTTCTTGAGAACCA	0.368													5	83					0	0	0	0	T	101969423	C	T	101969423	3	4	127	1	0	0	0	0	1	0	0	0	3445	922	32	2	1228	2	CHUK	10	101969423	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	5521507	101969423	33565324	249	24458											
NPM3	10360	broad.mit.edu	37	chr10	103542342	103542342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acactcgtctttggctccctCggtgaggcagagctgggaac	7	9	13	12	2	1	2	0	1	1	1	4	3	2	3	1	4	2	3	1	4	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:103542342C>T	ENST00000370110.5	-	3	239	c.217G>A	c.(217-219)Gag>Aag	p.E73K	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	73							nucleic acid binding			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TTGGCTCCCTCGGTGAGGCAG	0.577													5	54					0	0	0	0	T	103542342	C	T	103542342	3	4	127	1	0	0	0	0	1	0	0	0	10660	893	31	1	331	1	NPM3	10	103542342	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1572919	103542342	31992405	250	24459											
SUFU	51684	broad.mit.edu	37	chr10	104359284	104359284	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcagcggcagaatggcctCgcccacgaccgggccccgta	7	4	12	18	5	1	1	1	0	0	1	2	2	1	1	6	3	1	2	6	3	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:104359284C>T	ENST00000369902.3	+	8	1171	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L	SUFU_ENST00000423559.2_Silent_p.L335L|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Silent_p.L335L	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	335					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		AGAATGGCCTCGCCCACGACC	0.577			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				4	66					0	0	0	0	T	104359284	C	T	104359284	2	4	127	1	0	0	0	0	0	0	0	1	15458	871	31	1		1	SUFU	10	104359284	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	816942	104359284	31175463	251	24460											
GPAM	57678	broad.mit.edu	37	chr10	113928627	113928627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataccccatggagcaaagctCtatagagaacatctttccgt	13	10	7	11	1	2	1	0	0	2	1	3	3	3	2	3	1	4	2	3	1	5	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:113928627C>T	ENST00000348367.4	-	10	1075	c.878G>A	c.(877-879)aGa>aAa	p.R293K	GPAM_ENST00000369425.1_Missense_Mutation_p.R293K|GPAM_ENST00000423155.1_Missense_Mutation_p.R293K			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	293					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GAGCAAAGCTCTATAGAGAAC	0.408													4	85					0	0	0	0	T	113928627	C	T	113928627	3	4	127	1	0	0	0	0	1	0	0	0	6637	913	32	2	1660	2	GPAM	10	113928627	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	9569343	113928627	21606120	252	24461											
FAM160B1	57700	broad.mit.edu	37	chr10	116595331	116595331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacagcaggttttggttttCtatacgaaacttctgggaag	12	13	10	6	1	2	0	0	0	2	0	2	2	2	1	0	3	4	3	0	3	5	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:116595331C>T	ENST00000369248.4	+	4	665	c.330C>T	c.(328-330)ttC>ttT	p.F110F	FAM160B1_ENST00000369250.3_Silent_p.F110F	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	110										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TTTTGGTTTTCTATACGAAAC	0.423													4	64					0	0	0	0	T	116595331	C	T	116595331	2	4	127	1	0	0	0	0	0	0	0	1	5511	912	32	2		2	FAM160B1	10	116595331	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2666704	116595331	18939416	253	24462											
GPR123	84435	broad.mit.edu	37	chr10	134896174	134896174	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagacccacggccttggcctGaggtgggcataggatgctga	8	7	16	10	1	0	3	0	2	0	1	0	5	0	4	3	5	1	2	3	5	1	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr10:134896174G>A	ENST00000607359.1	+	6	1260	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCCTTGGCCTGAGGTGGGCAT	0.622													4	27					0	0	0	0	A	134896174	G	A	134896174	2	1	127	1	0	0	0	0	0	0	0	1	6686	1305	45	2		2	GPR123	10	134896174	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	18300843	134896174	638573	254	24463											
ZNF215	7762	broad.mit.edu	37	chr11	6977082	6977082	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaagaggctttcattcctGagacaatttacactgaggag	13	10	9	9	0	1	3	1	2	0	2	2	5	2	4	1	2	1	1	1	2	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:6977082G>C	ENST00000278319.5	+	7	1462	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	ZNF215_ENST00000414517.2_Missense_Mutation_p.E292Q|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	292					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TTTCATTCCTGAGACAATTTA	0.363													10	141					0	0	0	0	C	6977082	G	C	6977082	3	2	127	1	0	0	0	0	1	0	0	0	17866	1291	45	2	892	2	ZNF215	11	6977082	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08		6977082	128029434	255	24464											
ZNF214	7761	broad.mit.edu	37	chr11	7022032	7022032	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcccctatgtgaactctCtgatgaaagtgaactccgga	11	10	8	12	1	1	4	0	4	1	0	4	5	3	5	4	1	2	0	4	1	4	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:7022032C>T	ENST00000278314.4	-	3	1197	c.882G>A	c.(880-882)caG>caA	p.Q294Q	ZNF214_ENST00000536068.1_Silent_p.Q294Q	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TGTGAACTCTCTGATGAAAGT	0.433													14	211					0	0	0	0	T	7022032	C	T	7022032	2	4	127	1	0	0	0	0	0	0	0	1	17865	912	32	2		2	ZNF214	11	7022032	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	44950	7022032	127984484	256	24465											
ADM	133	broad.mit.edu	37	chr11	10327878	10327878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccctccccccgcccgcaGcagtccggatgccgcccgca	4	4	9	24	5	0	0	0	0	0	0	3	1	3	1	9	1	2	3	9	1	0	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:10327878G>A	ENST00000530439.1	+	2	808	c.44G>A	c.(43-45)aGc>aAc	p.S15N	ADM_ENST00000528655.1_Splice_Site|ADM_ENST00000525063.1_Splice_Site|ADM_ENST00000534464.1_Splice_Site|ADM_ENST00000526492.1_Silent_p.Q93Q|ADM_ENST00000278175.5_Splice_Site	NM_001124.1	NP_001115.1	P35318	ADML_HUMAN	adrenomedullin	83					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		CCCGCCCGCAGCAGTCCGGAT	0.647													7	35					0	0	0	0	A	10327878	G	A	10327878	3	1	127	1	0	0	0	0	1	0	0	0	321	985	34	4	258	4	ADM	11	10327878	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3305846	10327878	124678638	257	24466											
PIK3C2A	5286	broad.mit.edu	37	chr11	17139073	17139073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actagcctgccttactttttCtgctactcctcctaaaagct	8	15	4	14	0	1	0	0	0	1	0	3	0	3	0	4	0	6	2	4	0	5	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:17139073C>G	ENST00000265970.7	-	18	3180	c.3181G>C	c.(3181-3183)Gaa>Caa	p.E1061Q	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.E681Q|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1061					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTTACTTTTTCTGCTACTCCT	0.408													7	156					0	0	0	0	G	17139073	C	G	17139073	3	3	127	1	0	0	0	0	1	0	0	0	11981	922	32	2	1939	2	PIK3C2A	11	17139073	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	6811195	17139073	117867443	258	24467											
IGSF22	283284	broad.mit.edu	37	chr11	18731033	18731033	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaagaagtatttctgcctctCgatgagtcctcccactgtgt	8	13	9	11	1	2	2	0	1	2	1	5	4	4	2	3	0	1	1	3	0	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:18731033C>G	ENST00000513874.1	-	18	3038	c.2899G>C	c.(2899-2901)Gag>Cag	p.E967Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	866										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTCTGCCTCTCGATGAGTCCT	0.567													5	95					0	0	0	0	G	18731033	C	G	18731033	3	3	127	1	0	0	0	0	1	0	0	0	7653	893	31	3	1105	3	IGSF22	11	18731033	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1591960	18731033	116275483	259	24468											
PAMR1	25891	broad.mit.edu	37	chr11	35456291	35456291	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcctgtagatggctgcCtgccacggccagcgcaaccc	6	7	11	17	2	0	1	0	0	0	1	2	1	2	1	6	2	4	3	6	2	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:35456291C>G	ENST00000378880.2	-	10	1840	c.1395G>C	c.(1393-1395)caG>caC	p.Q465H	PAMR1_ENST00000278360.3_Missense_Mutation_p.Q482H|PAMR1_ENST00000378878.3_Missense_Mutation_p.Q354H|PAMR1_ENST00000532848.1_Missense_Mutation_p.Q425H	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	465	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGATGGCTGCCTGCCACGGCC	0.562													9	99					0	0	0	0	G	35456291	C	G	35456291	3	3	127	1	0	0	0	0	1	0	0	0	11484	680	24	4	775	4	PAMR1	11	35456291	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	16725258	35456291	99550225	260	24469											
TTC17	55761	broad.mit.edu	37	chr11	43436179	43436179	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggaaatgcttaccttgctCtgaagaatatcagtggggca	11	11	12	7	0	2	2	1	1	1	1	2	3	2	3	1	3	3	3	1	3	5	3	rs112155488		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:43436179C>G	ENST00000039989.4	+	16	2118	c.2104C>G	c.(2104-2106)Ctg>Gtg	p.L702V	TTC17_ENST00000299240.6_Missense_Mutation_p.L702V|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	702							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTACCTTGCTCTGAAGAATAT	0.403													13	221					0	0	0	0	G	43436179	C	G	43436179	3	3	127	1	0	0	0	0	1	0	0	0	16780	912	32	2	2166	2	TTC17	11	43436179	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	7979888	43436179	91570337	261	24470											
AMBRA1	55626	broad.mit.edu	37	chr11	46568686	46568686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taaatcccaaatcctaacctCcccatctaggcagccagaag	14	7	5	15	0	1	1	0	0	1	1	4	1	4	1	6	1	2	1	6	1	6	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:46568686C>T	ENST00000458649.2	-	4	773	c.355G>A	c.(355-357)Gag>Aag	p.E119K	AMBRA1_ENST00000426438.1_Missense_Mutation_p.E119K|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E119K|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E119K|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E119K|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E119K|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E119K			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	119					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ATCCTAACCTCCCCATCTAGG	0.448													8	140					0	0	0	0	T	46568686	C	T	46568686	3	4	127	1	0	0	0	0	1	0	0	0	565	864	30	2	3335	2	AMBRA1	11	46568686	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3132507	46568686	88437830	262	24471											
OR4C12	283093	broad.mit.edu	37	chr11	50003584	50003584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctgaatagttgcatgaaGaaatcctcccacccaggcca	14	8	7	12	0	1	3	0	2	1	1	3	3	3	3	4	1	1	2	4	1	5	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:50003584G>A	ENST00000335238.4	-	1	487	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GTTGCATGAAGAAATCCTCCC	0.483													11	239					0	0	0	0	A	50003584	G	A	50003584	3	1	127	1	0	0	0	0	1	0	0	0	11117	942	33	2	479	2	OR4C12	11	50003584	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3434898	50003584	85002932	263	24472											
OR4C6	219432	broad.mit.edu	37	chr11	55433207	55433207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgttgacacttgcctgcacgGacacccacatcctgggcctc	7	9	9	16	1	0	1	0	1	0	0	2	2	1	2	4	2	2	2	4	2	0	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:55433207G>A	ENST00000314259.3	+	1	594	c.565G>A	c.(565-567)Gac>Aac	p.D189N		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGCCTGCACGGACACCCACAT	0.433													31	182					0	0	0	0	A	55433207	G	A	55433207	3	1	127	1	0	0	0	0	1	0	0	0	11123	1174	41	2	567	2	OR4C6	11	55433207	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	5429623	55433207	79573309	264	24473											
OR8H3	390152	broad.mit.edu	37	chr11	55890051	55890051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttccttactcacctgtCatttattgacctcagttact	7	20	3	11	0	3	1	3	1	0	0	4	1	4	1	3	0	2	1	3	0	3	8			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:55890051C>T	ENST00000313472.3	+	1	203	c.203C>T	c.(202-204)tCa>tTa	p.S68L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S68*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACTCACCTGTCATTTATTGAC	0.438													18	391					0	0	0	0	T	55890051	C	T	55890051	3	4	127	1	0	0	0	0	1	0	0	0	11310	838	29	2	205	2	OR8H3	11	55890051	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	456844	55890051	79116465	265	24474											
OR5A2	219981	broad.mit.edu	37	chr11	59190019	59190019	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacaaagtgtatgggatatGaggactgtgtaaagcaaggg	16	8	14	3	0	0	1	0	1	0	0	0	3	0	3	0	3	2	3	0	3	7	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:59190019G>A	ENST00000302040.4	-	1	430	c.408C>T	c.(406-408)ctC>ctT	p.L136L		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TATGGGATATGAGGACTGTGT	0.458													6	68					0	0	0	0	A	59190019	G	A	59190019	2	1	127	1	0	0	0	0	0	0	0	1	11211	1277	45	2		2	OR5A2	11	59190019	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3299968	59190019	75816497	266	24475											
DAGLA	747	broad.mit.edu	37	chr11	61502369	61502369	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgcccctggagtcaccatCgaggaagacaactgctgtgg	9	8	12	12	2	1	1	1	0	0	1	3	4	1	3	3	3	2	1	3	3	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:61502369C>T	ENST00000257215.5	+	10	1139	c.1023C>T	c.(1021-1023)atC>atT	p.I341I		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	341					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GAGTCACCATCGAGGAAGACA	0.602													27	230					0	0	0	0	T	61502369	C	T	61502369	2	4	127	1	0	0	0	0	0	0	0	1	4259	874	31	1		1	DAGLA	11	61502369	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2312350	61502369	73504147	267	24476											
MARK2	2011	broad.mit.edu	37	chr11	63671514	63671514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttctgccgcagtctctgCggcccggccccgccagcacc	3	7	11	20	4	2	0	0	0	2	0	3	0	2	0	6	2	4	3	6	2	0	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:63671514C>T	ENST00000402010.2	+	15	2150	c.1571C>T	c.(1570-1572)gCg>gTg	p.A524V	MARK2_ENST00000413835.2_Intron|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000315032.8_Missense_Mutation_p.A524V|MARK2_ENST00000509502.2_Missense_Mutation_p.A490V|MARK2_ENST00000377809.4_Missense_Mutation_p.A524V|MARK2_ENST00000350490.7_Intron|MARK2_ENST00000425897.2_Intron|MARK2_ENST00000408948.3_Intron|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000502399.3_Missense_Mutation_p.A523V|MARK2_ENST00000513765.2_Missense_Mutation_p.A491V|MARK2_ENST00000377810.3_Intron	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	524					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAGTCTCTGCGGCCCGGCCC	0.662													3	14					0	0	0	0	T	63671514	C	T	63671514	3	4	127	1	0	0	0	0	1	0	0	0	9382	768	27	1	1629	1	MARK2	11	63671514	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2169145	63671514	71335002	268	24477											
CDC42BPG	55561	broad.mit.edu	37	chr11	64602837	64602837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccgctcctgctcccggctCagcctccggttttcctcctg	2	11	8	20	3	1	0	1	0	0	0	6	0	6	0	7	2	2	4	7	2	0	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:64602837C>T	ENST00000342711.5	-	16	1934	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	645					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCTCCCGGCTCAGCCTCCGGT	0.657													24	380					0	0	0	0	T	64602837	C	T	64602837	2	4	127	1	0	0	0	0	0	0	0	1	3103	813	29	2		2	CDC42BPG	11	64602837	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	931323	64602837	70403679	269	24478											
CDC42BPG	55561	broad.mit.edu	37	chr11	64602888	64602888	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agagcctcctccttaccactCggcctggggaggagaaggcc	8	6	13	14	1	0	2	0	0	0	2	3	4	2	3	6	5	2	0	6	5	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:64602888C>G	ENST00000342711.5	-	16	1883	c.1884G>C	c.(1882-1884)ccG>ccC	p.P628P		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	628				P -> R (in Ref. 1; AAT67172).	actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCTTACCACTCGGCCTGGGGA	0.682													19	225					0	0	0	0	G	64602888	C	G	64602888	2	3	127	1	0	0	0	0	0	0	0	1	3103	871	31	3		3	CDC42BPG	11	64602888	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	51	64602888	70403628	270	24479											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810634	65810634	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgtcgcgcgggctgcgctCattgtcgccgcccaggtcgt	2	9	15	15	8	1	0	1	0	0	0	5	0	1	0	2	2	1	2	2	2	0	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:65810634C>G	ENST00000312006.4	-	3	921	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.E214Q	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	214					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGGCTGCGCTCATTGTCGCCG	0.672													4	94					0	0	0	0	G	65810634	C	G	65810634	3	3	127	1	0	0	0	0	1	0	0	0	6248	835	29	2	659	2	GAL3ST3	11	65810634	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1207746	65810634	69195882	271	24480											
NUMA1	4926	broad.mit.edu	37	chr11	71724989	71724989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagccaactcccgttgggccGaggctaaggcactctgactg	8	7	12	14	2	1	1	0	1	1	0	2	2	2	1	3	3	2	3	3	3	2	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:71724989G>C	ENST00000393695.3	-	15	3891	c.3560C>G	c.(3559-3561)tCg>tGg	p.S1187W	NUMA1_ENST00000358965.6_Missense_Mutation_p.S1187W|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1187					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCGTTGGGCCGAGGCTAAGGC	0.652			T	RARA	APL								4	66					0	0	0	0	C	71724989	G	C	71724989	3	2	127	1	0	0	0	0	1	0	0	0	10821	1059	37	3	2839	3	NUMA1	11	71724989	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	5914355	71724989	63281527	272	24481											
ARHGEF17	9828	broad.mit.edu	37	chr11	73071382	73071382	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcctggacgatgcactGcgggacctctcagctgccat	8	7	12	14	2	1	1	1	0	1	1	2	4	1	3	3	2	5	2	3	2	0	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:73071382G>A	ENST00000263674.3	+	11	4574	c.4224G>A	c.(4222-4224)ctG>ctA	p.L1408L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1408					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACGATGCACTGCGGGACCTCT	0.652													12	129					0	0	0	0	A	73071382	G	A	73071382	2	1	127	1	0	0	0	0	0	0	0	1	902	1306	46	4		4	ARHGEF17	11	73071382	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1346393	73071382	61935134	273	24482											
C11orf30	56946	broad.mit.edu	37	chr11	76237521	76237521	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttagggagaaaagactattCagacagtgccaacaggagca	16	7	11	7	0	1	3	1	0	0	3	1	5	1	4	1	2	3	1	1	2	5	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:76237521C>T	ENST00000529032.1	+	12	1837	c.1837C>T	c.(1837-1839)Cag>Tag	p.Q613*	C11orf30_ENST00000334736.3_Nonsense_Mutation_p.Q613*|C11orf30_ENST00000533248.1_Nonsense_Mutation_p.Q627*|C11orf30_ENST00000525038.1_Nonsense_Mutation_p.Q628*|C11orf30_ENST00000525919.1_Nonsense_Mutation_p.Q614*|C11orf30_ENST00000343878.3_Nonsense_Mutation_p.Q613*|C11orf30_ENST00000524767.1_Nonsense_Mutation_p.Q628*|C11orf30_ENST00000524490.1_Nonsense_Mutation_p.Q529*			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	613	Thr-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AAAGACTATTCAGACAGTGCC	0.363													4	73					0	0	0	0	T	76237521	C	T	76237521	4	4	127	1	0	0	0	0	0	1	0	0	1647	827	29	2	1883	2	C11orf30	11	76237521	Nonsense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3166139	76237521	58768995	274	24483											
MMP27	64066	broad.mit.edu	37	chr11	102564686	102564686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttttcttgtggtcttatCacagacggctgcatctattt	6	18	9	8	1	4	1	1	0	3	1	4	1	4	1	0	3	1	3	0	3	2	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:102564686C>T	ENST00000260229.4	-	8	1235	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	382	Hemopexin-like 3.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GTGGTCTTATCACAGACGGCT	0.393													13	158					0	0	0	0	T	102564686	C	T	102564686	3	4	127	1	0	0	0	0	1	0	0	0	9734	826	29	2	409	2	MMP27	11	102564686	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	26327165	102564686	32441830	275	24484											
MMP8	4317	broad.mit.edu	37	chr11	102592156	102592156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaggtgttggtccatgtttCttcggcatcaaaatgagcat	9	13	12	7	1	2	1	1	1	1	0	4	2	3	2	1	4	1	4	1	4	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:102592156C>T	ENST00000236826.3	-	4	696	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	200					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		GTCCATGTTTCTTCGGCATCA	0.433													6	111					0	0	0	0	T	102592156	C	T	102592156	3	4	127	1	0	0	0	0	1	0	0	0	9738	922	32	2	833	2	MMP8	11	102592156	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	27470	102592156	32414360	276	24485											
ATM	472	broad.mit.edu	37	chr11	108235920	108235920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctactctgaatgcagatGaccaagaatgcaaacgaaat	17	7	7	10	1	1	4	0	2	1	2	1	5	1	4	2	0	4	2	2	0	6	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:108235920G>A	ENST00000278616.4	+	62	9347	c.8962G>A	c.(8962-8964)Gac>Aac	p.D2988N	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.D2988N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2988					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAATGCAGATGACCAAGAATG	0.413			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			8	113					0	0	0	0	A	108235920	G	A	108235920	3	1	127	1	0	0	0	0	1	0	0	0	1113	1290	45	2	9204	2	ATM	11	108235920	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	5643764	108235920	26770596	277	24486											
DIXDC1	85458	broad.mit.edu	37	chr11	111887438	111887438	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcctcactcacagagctctCcaactgtcagcagcacctgt	9	9	7	16	0	4	1	3	0	1	1	5	1	4	1	3	0	5	3	3	0	1	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:111887438C>G	ENST00000440460.2	+	19	2074	c.1777C>G	c.(1777-1779)Cca>Gca	p.P593A	DIXDC1_ENST00000315253.5_Missense_Mutation_p.P382A|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	594					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		ACAGAGCTCTCCAACTGTCAG	0.453													3	27					0	0	0	0	G	111887438	C	G	111887438	3	3	127	1	0	0	0	0	1	0	0	0	4578	855	30	2	1876	2	DIXDC1	11	111887438	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3651518	111887438	23119078	278	24487											
BCO2	83875	broad.mit.edu	37	chr11	112065459	112065459	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaacagcatacaatatgggGaactcctttgggccatatgg	12	9	12	8	0	0	0	0	0	0	0	1	2	1	2	2	5	4	1	2	5	6	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:112065459G>T	ENST00000357685.5	+	5	852	c.717G>T	c.(715-717)ggG>ggT	p.G239G	SDHD_ENST00000532612.1_Intron|BCO2_ENST00000438022.1_Silent_p.G205G|BCO2_ENST00000531169.1_Silent_p.G205G|BCO2_ENST00000526088.1_Silent_p.G205G|BCO2_ENST00000393032.2_Silent_p.G205G|BCO2_ENST00000361053.4_Intron|BCO2_ENST00000532593.1_Silent_p.G134G			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	239					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ACAATATGGGGAACTCCTTTG	0.393													7	138					1.12685e-05	1.14811e-05	1	0	T	112065459	G	T	112065459	2	4	127	1	0	0	0	0	0	0	0	1	1389	1161	41	2		2	BCO2	11	112065459	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	178021	112065459	22941057	279	24488											
APOA4	337	broad.mit.edu	37	chr11	116692523	116692523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcgttcatgcagctcggtgGcaaagggcaccagcttcttc	7	9	13	12	2	2	0	1	0	1	0	4	0	2	0	1	4	3	6	1	4	1	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:116692523G>A	ENST00000357780.3	-	3	365	c.251C>T	c.(250-252)gCc>gTc	p.A84V		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		cagctcggtggcaaagggcac	0.602													10	130					0	0	0	0	A	116692523	G	A	116692523	3	1	127	1	0	0	0	0	1	0	0	0	785	1203	42	4	943	4	APOA4	11	116692523	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	4627064	116692523	18313993	280	24489											
PHLDB1	23187	broad.mit.edu	37	chr11	118516501	118516501	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggagatggagaagatgctGaaagaggctcatgcagagaa	16	5	16	4	0	1	6	1	1	0	5	1	10	1	6	0	3	2	3	0	3	3	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr11:118516501G>A	ENST00000361417.2	+	18	3876	c.3465G>A	c.(3463-3465)ctG>ctA	p.L1155L	PHLDB1_ENST00000527898.1_Silent_p.L206L|PHLDB1_ENST00000356063.5_Silent_p.L1108L|PHLDB1_ENST00000524713.1_Silent_p.L298L|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1155										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGAAGATGCTGAAAGAGGCTC	0.587													8	140					0	0	0	0	A	118516501	G	A	118516501	2	1	127	1	0	0	0	0	0	0	0	1	11923	1277	45	2		2	PHLDB1	11	118516501	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1823978	118516501	16490015	281	24490											
C12orf5	57103	broad.mit.edu	37	chr12	4430449	4430449	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgggaacatggctcgcttCgctctgactgttgtccggca	5	11	12	13	4	1	1	0	1	1	0	5	2	3	2	2	3	1	5	2	3	1	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:4430449C>T	ENST00000179259.4	+	1	79	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	4						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)			TGGCTCGCTTCGCTCTGACTG	0.647													4	72					0	0	0	0	T	4430449	C	T	4430449	2	4	127	1	0	0	0	0	0	0	0	1	1706	883	31	1		1	C12orf5	12	4430449	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08		4430449	129421446	282	24491											
FGF23	8074	broad.mit.edu	37	chr12	4479668	4479668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaggccggggccggggtCatccgggcccggggcttcag	4	4	20	13	4	2	0	2	0	0	0	3	1	3	1	4	9	0	1	4	9	0	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:4479668C>T	ENST00000237837.1	-	3	742	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	199					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GGGCCGGGGTCATCCGGGCCC	0.682													5	49					0	0	0	0	T	4479668	C	T	4479668	3	4	127	1	0	0	0	0	1	0	0	0	5897	826	29	2	162	2	FGF23	12	4479668	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	49219	4479668	129372227	283	24492											
GAPDH	2597	broad.mit.edu	37	chr12	6646520	6646520	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagcacccctggccaaggtCatccatgacaactttggtat	10	11	8	12	0	1	1	1	1	0	0	2	1	2	1	4	3	2	2	4	3	4	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:6646520C>T	ENST00000229239.5	+	7	1155	c.489C>T	c.(487-489)gtC>gtT	p.V163V	GAPDH_ENST00000396859.1_Silent_p.V163V|GAPDH_ENST00000396856.1_Silent_p.V88V|GAPDH_ENST00000396861.1_Silent_p.V163V|GAPDH_ENST00000396858.1_Silent_p.V121V	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	163					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	TGGCCAAGGTCATCCATGACA	0.577													5	56					0	0	0	0	T	6646520	C	T	6646520	2	4	127	1	0	0	0	0	0	0	0	1	6285	813	29	2		2	GAPDH	12	6646520	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2166852	6646520	127205375	284	24493											
GAPDH	2597	broad.mit.edu	37	chr12	6647075	6647075	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagcaccaggtggtctcctCtgacttcaacagcgacaccc	9	8	9	15	1	3	2	1	2	2	0	4	3	3	2	3	2	3	1	3	2	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:6647075C>G	ENST00000229239.5	+	8	1517	c.851C>G	c.(850-852)tCt>tGt	p.S284C	RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396859.1_Missense_Mutation_p.S284C|GAPDH_ENST00000396856.1_Missense_Mutation_p.S209C|GAPDH_ENST00000396861.1_Missense_Mutation_p.S284C|GAPDH_ENST00000396858.1_Missense_Mutation_p.S242C	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	284					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	GTGGTCTCCTCTGACTTCAAC	0.567											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	60					0	0	0	0	G	6647075	C	G	6647075	3	3	127	1	0	0	0	0	1	0	0	0	6285	913	32	2	877	2	GAPDH	12	6647075	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	555	6647075	127204820	285	24494											
ATN1	1822	broad.mit.edu	37	chr12	7045484	7045484	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccagagaagggcccaactCtggctccttcaccccactct	8	7	8	18	0	3	1	1	0	2	1	4	2	4	1	5	2	1	1	5	2	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:7045484C>T	ENST00000356654.4	+	5	1291	c.1054C>T	c.(1054-1056)Ctg>Ttg	p.L352L	ATN1_ENST00000396684.2_Silent_p.L352L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	352					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.L352V(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GGGCCCAACTCTGGCTCCTTC	0.612													13	140					0	0	0	0	T	7045484	C	T	7045484	2	4	127	1	0	0	0	0	0	0	0	1	1115	912	32	2		2	ATN1	12	7045484	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	398409	7045484	126806411	286	24495											
PEX5	5830	broad.mit.edu	37	chr12	7344263	7344263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaggattataatgagactGactggtcccaagaattcatc	13	11	8	9	0	2	3	2	2	0	2	4	5	3	4	1	2	0	0	1	2	4	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:7344263G>A	ENST00000266563.5	+	5	598	c.415G>A	c.(415-417)Gac>Aac	p.D139N	PEX5_ENST00000420616.2_Missense_Mutation_p.D139N|PEX5_ENST00000434354.2_Missense_Mutation_p.D154N|PEX5_ENST00000455147.2_Missense_Mutation_p.D139N|PEX5_ENST00000545220.1_3'UTR|PEX5_ENST00000266564.3_Missense_Mutation_p.D139N|PEX5_ENST00000412720.2_Missense_Mutation_p.D160N	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	139					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TAATGAGACTGACTGGTCCCA	0.463													10	88					0	0	0	0	A	7344263	G	A	7344263	3	1	127	1	0	0	0	0	1	0	0	0	11820	1290	45	2	474	2	PEX5	12	7344263	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	298779	7344263	126507632	287	24496											
ABCC9	10060	broad.mit.edu	37	chr12	22068703	22068703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatcaataggctttttgtGagcagatataataagtgtgt	13	14	10	4	0	1	3	1	1	0	2	1	3	1	3	0	1	1	2	0	1	5	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:22068703G>A	ENST00000261200.4	-	5	714	c.715C>T	c.(715-717)Cac>Tac	p.H239Y	ABCC9_ENST00000345162.2_Missense_Mutation_p.H239Y|ABCC9_ENST00000261201.4_Missense_Mutation_p.H239Y	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	239					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGCTTTTTGTGAGCAGATATA	0.373													9	127					0	0	0	0	A	22068703	G	A	22068703	3	1	127	1	0	0	0	0	1	0	0	0	59	1290	45	2	4212	2	ABCC9	12	22068703	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	14724440	22068703	111783192	288	24497											
RPAP3	79657	broad.mit.edu	37	chr12	48075550	48075550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcaaaagctttagaatatGagccatctaataaaatggct	16	11	8	6	0	1	2	0	1	1	1	1	2	1	2	1	2	2	3	1	2	8	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:48075550G>A	ENST00000005386.3	-	10	1158	c.1043C>T	c.(1042-1044)tCa>tTa	p.S348L	RPAP3_ENST00000432584.3_Missense_Mutation_p.S189L|RPAP3_ENST00000380650.4_Missense_Mutation_p.S348L	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	348							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TTTAGAATATGAGCCATCTAA	0.363													4	91					0	0	0	0	A	48075550	G	A	48075550	3	1	127	1	0	0	0	0	1	0	0	0	13628	1294	45	2	986	2	RPAP3	12	48075550	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	26006847	48075550	85776345	289	24498											
PFKM	5213	broad.mit.edu	37	chr12	48535527	48535527	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcactgatcaactaggactCtacccaagaagagctttgaa	15	9	7	10	0	3	4	2	2	1	2	3	5	3	5	1	1	3	1	1	1	6	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:48535527C>T	ENST00000340802.6	+	18	1854	c.1630C>T	c.(1630-1632)Cta>Tta	p.L544L	PFKM_ENST00000395233.2_Silent_p.L442L|PFKM_ENST00000547587.1_Silent_p.L473L|PFKM_ENST00000551804.1_Silent_p.L442L|PFKM_ENST00000359794.5_Silent_p.L473L|PFKM_ENST00000312352.7_Silent_p.L473L	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	473					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AACTAGGACTCTACCCAAGAA	0.483													12	185					0	0	0	0	T	48535527	C	T	48535527	2	4	127	1	0	0	0	0	0	0	0	1	11837	912	32	2		2	PFKM	12	48535527	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	459977	48535527	85316368	290	24499											
LMBR1L	55716	broad.mit.edu	37	chr12	49498291	49498291	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgcaaagggcatgaggaaGatgagggacaggttggagaa	15	6	17	3	0	0	4	0	2	0	2	0	7	0	6	0	5	1	3	0	5	4	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:49498291G>A	ENST00000267102.8	-	5	717	c.375C>T	c.(373-375)atC>atT	p.I125I	LMBR1L_ENST00000553204.1_Intron|LMBR1L_ENST00000395141.4_Silent_p.I120I|LMBR1L_ENST00000547382.1_Silent_p.I125I	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	125					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCATGAGGAAGATGAGGGACA	0.498													8	120					0	0	0	0	A	49498291	G	A	49498291	2	1	127	1	0	0	0	0	0	0	0	1	8896	932	33	2		2	LMBR1L	12	49498291	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	962764	49498291	84353604	291	24500											
DIP2B	57609	broad.mit.edu	37	chr12	51116998	51116998	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgcaggcattgagttaatCgccgccttctatggctgcct	6	13	10	12	2	1	1	0	1	1	0	2	1	1	1	3	2	2	4	3	2	2	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:51116998C>T	ENST00000301180.5	+	27	3214	c.3180C>T	c.(3178-3180)atC>atT	p.I1060I		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1060						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTGAGTTAATCGCCGCCTTCT	0.502													18	138					0	0	0	0	T	51116998	C	T	51116998	2	4	127	1	0	0	0	0	0	0	0	1	4565	874	31	1		1	DIP2B	12	51116998	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1618707	51116998	82734897	292	24501											
ATF1	466	broad.mit.edu	37	chr12	51203320	51203320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggagtttctgctgctgtCacttctatgtctgttccaac	5	17	8	11	0	5	0	1	0	4	0	6	1	6	1	1	1	3	4	1	1	2	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:51203320C>T	ENST00000262053.3	+	4	298	c.276C>T	c.(274-276)gtC>gtT	p.V92V	ATF1_ENST00000539132.1_Intron	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	92					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						CTGCTGCTGTCACTTCTATGT	0.393			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "								10	114					0	0	0	0	T	51203320	C	T	51203320	2	4	127	1	0	0	0	0	0	0	0	1	1083	813	29	2		2	ATF1	12	51203320	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	86322	51203320	82648575	293	24502											
SLC11A2	4891	broad.mit.edu	37	chr12	51402270	51402270	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gatactaacctcctcctcagGaatggagatcttctcattaa	12	12	6	11	0	3	1	2	0	2	1	6	4	5	2	3	2	2	0	3	2	4	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:51402270G>C	ENST00000394904.3	-	3	308	c.259C>G	c.(259-261)Cct>Gct	p.P87A	SLC11A2_ENST00000262051.7_Missense_Mutation_p.P58A|SLC11A2_ENST00000262052.5_Missense_Mutation_p.P58A|SLC11A2_ENST00000545993.2_Missense_Mutation_p.P54A|SLC11A2_ENST00000547198.1_Missense_Mutation_p.P58A|SLC11A2_ENST00000549193.1_5'UTR|SLC11A2_ENST00000541174.2_Missense_Mutation_p.P58A|SLC11A2_ENST00000547688.1_Missense_Mutation_p.P87A|SLC11A2_ENST00000546743.1_5'UTR	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	58					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						TCCTCCTCAGGAATGGAGATC	0.483													14	178					0	0	0	0	C	51402270	G	C	51402270	3	2	127	1	0	0	0	0	1	0	0	0	14469	1174	41	2	1651	2	SLC11A2	12	51402270	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	198950	51402270	82449625	294	24503											
CSRNP2	81566	broad.mit.edu	37	chr12	51467818	51467818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacagtcacctggtcaaagcGtacattcttcctccgcagct	9	11	7	14	2	3	0	2	0	1	0	5	0	5	0	3	1	4	3	3	1	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:51467818G>A	ENST00000228515.1	-	3	496	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	67					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						TGGTCAAAGCGTACATTCTTC	0.493													12	113					0	0	0	0	A	51467818	G	A	51467818	3	1	127	1	0	0	0	0	1	0	0	0	3996	1145	40	1	1444	1	CSRNP2	12	51467818	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	65548	51467818	82384077	295	24504											
KRT18	3875	broad.mit.edu	37	chr12	53346617	53346617	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaatgacaccaaagttctGaggcattaagccagcagaag	16	6	9	10	0	1	3	0	2	1	1	1	3	1	3	3	1	2	3	3	1	4	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:53346617G>C	ENST00000388835.3	+	7	1494	c.1284G>C	c.(1282-1284)ctG>ctC	p.L428L	KRT18_ENST00000388837.2_Silent_p.L428L	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	428	Tail.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CCAAAGTTCTGAGGCATTAAG	0.493													7	73					0	0	0	0	C	53346617	G	C	53346617	2	2	127	1	0	0	0	0	0	0	0	1	8507	1277	45	2		2	KRT18	12	53346617	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1878799	53346617	80505278	296	24505											
HNRNPA1	3178	broad.mit.edu	37	chr12	54678090	54678090	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagctatggcagtggcagaaGattttaattaggtaagtaag	14	12	12	3	0	0	2	0	0	0	2	0	2	0	2	0	3	1	5	0	3	7	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:54678090G>C	ENST00000546500.1	+	9	1571	c.956G>C	c.(955-957)aGa>aCa	p.R319T	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.R266T|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.R371T|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.R306T|RP11-968A15.8_ENST00000553061.1_RNA			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	371	Gly-rich.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGTGGCAGAAGATTTTAATTA	0.378													5	69					0	0	0	0	C	54678090	G	C	54678090	3	2	127	1	0	0	0	0	1	0	0	0	7307	942	33	2	1150	2	HNRNPA1	12	54678090	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1331473	54678090	79173805	297	24506											
GLS2	27165	broad.mit.edu	37	chr12	56865935	56865935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacatgcagagctgtgcgcGagtcatagtctttctgttcc	8	12	10	11	2	3	1	1	0	2	1	4	2	4	1	1	0	4	3	1	0	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:56865935G>A	ENST00000311966.4	-	16	1834	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	519					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGCTGTGCGCGAGTCATAGTC	0.493													26	150					0	0	0	0	A	56865935	G	A	56865935	3	1	127	1	0	0	0	0	1	0	0	0	6515	1059	37	1	264	1	GLS2	12	56865935	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2187845	56865935	76985960	298	24507											
PRIM1	5557	broad.mit.edu	37	chr12	57135604	57135604	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacttttggaagctttgttGaagttcatcatgaattggtg	10	16	11	4	0	2	3	2	2	0	1	2	4	2	4	0	2	1	3	0	2	3	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:57135604G>A	ENST00000338193.6	-	8	802	c.766C>T	c.(766-768)Caa>Taa	p.Q256*		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	256					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						AAGCTTTGTTGAAGTTCATCA	0.383													5	223					0	0	0	0	A	57135604	G	A	57135604	4	1	127	1	0	0	0	0	0	1	0	0	12570	1299	45	2	520	2	PRIM1	12	57135604	Nonsense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	269669	57135604	76716291	299	24508											
MBD6	114785	broad.mit.edu	37	chr12	57921393	57921393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcaaggccccctccaactCagggagacccccccaactcc	9	3	9	20	0	1	1	1	0	0	1	3	2	3	1	7	3	2	1	7	3	3	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:57921393C>T	ENST00000355673.3	+	8	2542	c.2186C>T	c.(2185-2187)tCa>tTa	p.S729L	MBD6_ENST00000431731.2_Missense_Mutation_p.S729L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	729	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCTCCAACTCAGGGAGACCC	0.617													7	176					0	0	0	0	T	57921393	C	T	57921393	3	4	127	1	0	0	0	0	1	0	0	0	9417	838	29	2	2208	2	MBD6	12	57921393	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	785789	57921393	75930502	300	24509											
PIP4K2C	79837	broad.mit.edu	37	chr12	57985144	57985144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cccggcccaggtttcggcttCgcctccaagaccaagaagaa	10	6	10	15	3	0	3	0	0	0	3	3	3	1	3	5	3	0	2	5	3	4	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:57985144C>G	ENST00000354947.5	+	1	88	c.72C>G	c.(70-72)ttC>ttG	p.F24L	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.F24L|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.F24L|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.F24L			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	24						cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GTTTCGGCTTCGCCTCCAAGA	0.652													5	154					0	0	0	0	G	57985144	C	G	57985144	3	3	127	1	0	0	0	0	1	0	0	0	12010	883	31	3	74	3	PIP4K2C	12	57985144	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	63751	57985144	75866751	301	24510											
OS9	10956	broad.mit.edu	37	chr12	58114262	58114262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacgttggctgactgatgaGgacacgagaaacctcaagga	13	6	13	9	2	1	4	1	3	0	1	1	7	1	6	1	3	1	3	1	3	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:58114262G>T	ENST00000315970.7	+	14	1880	c.1839G>T	c.(1837-1839)gaG>gaT	p.E613D	OS9_ENST00000439210.2_Missense_Mutation_p.E484D|OS9_ENST00000389146.6_Missense_Mutation_p.E598D|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389142.5_Missense_Mutation_p.E543D|OS9_ENST00000435406.2_Missense_Mutation_p.E506D|OS9_ENST00000552285.1_Missense_Mutation_p.E558D|OS9_ENST00000413095.2_Missense_Mutation_p.E352D|OS9_ENST00000551035.1_Missense_Mutation_p.E526D|OS9_ENST00000257966.8_Missense_Mutation_p.E559D	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	613					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGACTGATGAGGACACGAGAA	0.542													6	54					0.0215528	0.0216329	1	0	T	58114262	G	T	58114262	3	4	127	1	0	0	0	0	1	0	0	0	11343	991	35	4	1893	4	OS9	12	58114262	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	129118	58114262	75737633	302	24511											
CYP27B1	1594	broad.mit.edu	37	chr12	58160754	58160754	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtactctcggtagcctaggGaggcgcccaactcgggcgcc	6	6	15	14	4	1	0	0	0	1	0	3	1	1	1	3	5	3	2	3	5	4	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:58160754G>C	ENST00000228606.4	-	1	280	c.71C>G	c.(70-72)tCc>tGc	p.S24C	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	24					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GTAGCCTAGGGAGGCGCCCAA	0.632													12	204					0	0	0	0	C	58160754	G	C	58160754	3	2	127	1	0	0	0	0	1	0	0	0	4191	1174	41	2	1491	2	CYP27B1	12	58160754	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	46492	58160754	75691141	303	24512											
CYP27B1	1594	broad.mit.edu	37	chr12	58160810	58160810	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacactctggaggcgtacttGagggtctgggtcatggtctg	7	11	15	8	1	4	1	1	1	3	0	4	2	4	2	0	5	2	1	0	5	2	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:58160810G>C	ENST00000228606.4	-	1	224	c.15C>G	c.(13-15)ctC>ctG	p.L5L	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	5					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	AGGCGTACTTGAGGGTCTGGG	0.587													7	163					0	0	0	0	C	58160810	G	C	58160810	2	2	127	1	0	0	0	0	0	0	0	1	4191	1277	45	2		2	CYP27B1	12	58160810	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	56	58160810	75691085	304	24513											
GRIP1	23426	broad.mit.edu	37	chr12	66773095	66773095	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggtcccagtcttcataactCagccccacatctgggtaagt	9	10	8	14	1	4	0	2	0	2	0	5	0	5	0	3	2	2	1	3	2	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:66773095C>G	ENST00000359742.4	-	20	2826	c.2586G>C	c.(2584-2586)ctG>ctC	p.L862L	GRIP1_ENST00000398016.3_Silent_p.L810L|GRIP1_ENST00000286445.7_Silent_p.L862L			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	862					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTTCATAACTCAGCCCCACAT	0.502													8	231					0	0	0	0	G	66773095	C	G	66773095	2	3	127	1	0	0	0	0	0	0	0	1	6837	813	29	2		2	GRIP1	12	66773095	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	8612285	66773095	67078800	305	24514											
PTPRB	5787	broad.mit.edu	37	chr12	70983815	70983815	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttccacctcatactgtCttcccggtacgagccccgtg	6	11	8	16	3	2	1	1	1	1	0	4	2	4	1	5	1	3	1	5	1	2	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:70983815C>A	ENST00000334414.6	-	8	2023	c.1979G>T	c.(1978-1980)aGa>aTa	p.R660I	PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000551525.1_Missense_Mutation_p.R659I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Missense_Mutation_p.R442I|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000261266.5_Missense_Mutation_p.R442I|PTPRB_ENST00000550358.1_Missense_Mutation_p.R660I	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	442	Fibronectin type-III 8.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTCATACTGTCTTCCCGGTAC	0.458											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	117					0.00307968	0.00311428	1	0	A	70983815	C	A	70983815	3	1	127	1	0	0	0	0	1	0	0	0	12878	913	32	2	4776	2	PTPRB	12	70983815	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	4210720	70983815	62868080	306	24515											
ZFC3H1	196441	broad.mit.edu	37	chr12	72057343	72057343	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaagctccccttcttccttCggcgagaggccactggaggc	6	9	11	15	2	2	1	1	0	1	1	5	3	4	2	4	4	1	1	4	4	1	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:72057343C>T	ENST00000378743.3	-	1	406	c.48G>A	c.(46-48)ccG>ccA	p.P16P	ZFC3H1_ENST00000548100.1_Silent_p.P16P|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Silent_p.P16P	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	16					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTTCTTCCTTCGGCGAGAGGC	0.647											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	189					0	0	0	0	T	72057343	C	T	72057343	2	4	127	1	0	0	0	0	0	0	0	1	17728	871	31	1		1	ZFC3H1	12	72057343	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1073528	72057343	61794552	307	24516											
CAPS2	84698	broad.mit.edu	37	chr12	75693620	75693620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataaaatcacaattaccgtGatacgatcctaccatcaaac	18	9	3	11	2	2	1	2	1	0	0	3	2	3	1	3	0	4	0	3	0	8	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:75693620G>A	ENST00000393284.3	-	9	813	c.212C>T	c.(211-213)tCa>tTa	p.S71L	CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.S253L|CAPS2_ENST00000409445.3_Missense_Mutation_p.S303L			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	303							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CAATTACCGTGATACGATCCT	0.264													6	189					0	0	0	0	A	75693620	G	A	75693620	3	1	127	1	0	0	0	0	1	0	0	0	2663	1294	45	2	801	2	CAPS2	12	75693620	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3636277	75693620	58158275	308	24517											
STAB2	55576	broad.mit.edu	37	chr12	104069774	104069774	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggacccttgcacaggacTaactccaggaggctgtagcc	10	7	12	12	0	0	0	0	0	0	0	1	4	1	3	3	4	3	3	3	4	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:104069774T>A	ENST00000388887.2	+	24	2825	c.2621T>A	c.(2620-2622)cTa>cAa	p.L874Q		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	874	EGF-like 8.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCACAGGACTAACTCCAGGA	0.453													4	60					0	0	0	0	A	104069774	T	A	104069774	3	1	127	1	0	0	0	0	1	0	0	0	15328	1522	53	5	2715	5	STAB2	12	104069774	Missense_Mutation	SNP	T	TCGA-CN-A6V1-01A-12D-A34J-08	28376154	104069774	29782121	309	24518											
CKAP4	10970	broad.mit.edu	37	chr12	106633715	106633715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccactctctggacttggctGaggtctgtatctccttcaca	6	13	8	14	0	4	1	1	1	3	0	6	2	4	2	2	3	0	2	2	3	1	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:106633715G>A	ENST00000378026.4	-	2	1032	c.896C>T	c.(895-897)tCa>tTa	p.S299L	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	299						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GGACTTGGCTGAGGTCTGTAT	0.517													5	161					0	0	0	0	A	106633715	G	A	106633715	3	1	127	1	0	0	0	0	1	0	0	0	3474	1294	45	2	916	2	CKAP4	12	106633715	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2563941	106633715	27218180	310	24519											
POLR3B	55703	broad.mit.edu	37	chr12	106895152	106895152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgtgtactatcagaagctGaaacacatggtgctagataa	14	9	9	9	1	1	3	1	1	0	2	1	3	1	3	1	1	4	3	1	1	6	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:106895152G>A	ENST00000228347.4	+	26	3258	c.3036G>A	c.(3034-3036)ctG>ctA	p.L1012L	POLR3B_ENST00000539066.1_Silent_p.L954L|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1012					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ATCAGAAGCTGAAACACATGG	0.438													4	120					0	0	0	0	A	106895152	G	A	106895152	2	1	127	1	0	0	0	0	0	0	0	1	12301	1277	45	2		2	POLR3B	12	106895152	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	261437	106895152	26956743	311	24520											
WSCD2	9671	broad.mit.edu	37	chr12	108589738	108589738	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctttgtgggccagccCgctgtctcggggaaccaggc	4	9	15	13	2	2	0	0	0	2	0	3	1	2	1	3	5	2	2	3	5	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:108589738C>T	ENST00000332082.4	+	3	947	c.129C>T	c.(127-129)ccC>ccT	p.P43P	WSCD2_ENST00000549903.1_Silent_p.P43P|WSCD2_ENST00000261400.3_Silent_p.P43P|WSCD2_ENST00000547525.1_Silent_p.P43P			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	43						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGGGCCAGCCCGCTGTCTCGG	0.612													8	137					0	0	0	0	T	108589738	C	T	108589738	2	4	127	1	0	0	0	0	0	0	0	1	17503	639	23	1		1	WSCD2	12	108589738	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1694586	108589738	25262157	312	24521											
MYO1H	283446	broad.mit.edu	37	chr12	109834318	109834318	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attctcgagtattttgcagtGacctgcccaatgacccagtc	9	12	8	12	1	1	2	0	2	1	0	3	3	1	2	3	0	2	2	3	0	2	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:109834318G>A	ENST00000310903.5	+	4	478	c.372G>A	c.(370-372)gtG>gtA	p.V124V	MYO1H_ENST00000431443.2_Silent_p.V124V			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						ATTTTGCAGTGACCTGCCCAA	0.493													4	54					0	0	0	0	A	109834318	G	A	109834318	2	1	127	1	0	0	0	0	0	0	0	1	10145	1277	45	2		2	MYO1H	12	109834318	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1244580	109834318	24017577	313	24522											
CCDC63	160762	broad.mit.edu	37	chr12	111296483	111296483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatgaatcggagtgagaaGaactacatggagctgcgact	15	7	12	7	2	0	3	0	2	0	2	1	7	0	5	0	2	5	1	0	2	5	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:111296483G>A	ENST00000308208.5	+	4	515	c.273G>A	c.(271-273)aaG>aaA	p.K91K	CCDC63_ENST00000545036.1_Silent_p.K51K|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000552694.1_Silent_p.K12K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	91										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GGAGTGAGAAGAACTACATGG	0.478													4	70					0	0	0	0	A	111296483	G	A	111296483	2	1	127	1	0	0	0	0	0	0	0	1	2861	933	33	2		2	CCDC63	12	111296483	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1462165	111296483	22555412	314	24523											
BRAP	8315	broad.mit.edu	37	chr12	112110555	112110555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactggcggccattgcatgtCatataaaaactatccgcatc	13	10	7	11	2	1	0	1	0	0	0	3	0	2	0	2	2	3	2	2	2	6	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:112110555C>T	ENST00000419234.4	-	5	850	c.657G>A	c.(655-657)atG>atA	p.M219I	BRAP_ENST00000539060.1_Intron|BRAP_ENST00000327551.6_Missense_Mutation_p.M189I	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	219					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CATTGCATGTCATATAAAAAC	0.393													6	106					0	0	0	0	T	112110555	C	T	112110555	3	4	127	1	0	0	0	0	1	0	0	0	1505	826	29	2	1153	2	BRAP	12	112110555	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	814072	112110555	21741340	315	24524											
KDM2B	84678	broad.mit.edu	37	chr12	121881866	121881866	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtatttccgcttcttcctCaggtgcacgtcgtcagactt	5	15	8	13	4	3	1	2	0	1	1	7	1	5	1	2	1	1	3	2	1	1	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:121881866C>T	ENST00000377069.4	-	16	2713	c.2307G>A	c.(2305-2307)ctG>ctA	p.L769L	KDM2B_ENST00000377071.4_Silent_p.L800L|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.L168L	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	800					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCTTCTTCCTCAGGTGCACGT	0.647											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	106					0	0	0	0	T	121881866	C	T	121881866	2	4	127	1	0	0	0	0	0	0	0	1	8178	813	29	2		2	KDM2B	12	121881866	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	9771311	121881866	11970029	316	24525											
KNTC1	9735	broad.mit.edu	37	chr12	123069497	123069497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttaatggctgtagagctttCcagacaatgccaaatggatg	12	12	10	7	0	0	2	0	0	0	2	1	3	1	3	2	2	2	3	2	2	4	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:123069497C>T	ENST00000333479.7	+	36	3671	c.3494C>T	c.(3493-3495)tCc>tTc	p.S1165F	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1165					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GTAGAGCTTTCCAGACAATGC	0.328													4	53					0	0	0	0	T	123069497	C	T	123069497	3	4	127	1	0	0	0	0	1	0	0	0	8480	855	30	2	3632	2	KNTC1	12	123069497	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1187631	123069497	10782398	317	24526											
DNAH10	196385	broad.mit.edu	37	chr12	124257476	124257476	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaacgtggtgtttttcctCagaaataccaaaggtacatt	14	12	7	8	1	1	1	1	0	0	1	2	1	2	1	2	2	3	2	2	2	6	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr12:124257476C>T	ENST00000409039.3	+	4	334	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	103	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTTTTTCCTCAGAAATACCA	0.463													7	87					0	0	0	0	T	124257476	C	T	124257476	2	4	127	1	0	0	0	0	0	0	0	1	4635	813	29	2		2	DNAH10	12	124257476	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1187979	124257476	9594419	318	24527											
ATP8A2	51761	broad.mit.edu	37	chr13	26127956	26127956	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcagataattttggataCaacctactgacgttcatcat	13	13	5	10	1	3	2	3	1	0	1	3	3	3	3	2	1	3	1	2	1	4	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:26127956C>T	ENST00000381655.2	+	12	1225	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y	ATP8A2_ENST00000255283.8_Silent_p.Y321Y	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	321					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ATTTTGGATACAACCTACTGA	0.383													9	168					0	0	0	0	T	26127956	C	T	26127956	2	4	127	1	0	0	0	0	0	0	0	1	1197	489	17	4		4	ATP8A2	13	26127956	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08		26127956	89041922	319	24528											
HSPH1	10808	broad.mit.edu	37	chr13	31725112	31725112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttccggaaacatctttatCattcataaagcattcgatat	13	15	4	9	2	3	0	2	0	1	0	5	2	4	1	1	1	2	1	1	1	5	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:31725112C>G	ENST00000320027.5	-	7	1224	c.880G>C	c.(880-882)Gat>Cat	p.D294H	HSPH1_ENST00000429785.2_Missense_Mutation_p.D113H|HSPH1_ENST00000380405.4_Missense_Mutation_p.D294H|HSPH1_ENST00000380406.5_Missense_Mutation_p.D253H|HSPH1_ENST00000445273.2_Missense_Mutation_p.D296H	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	294					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		ACATCTTTATCATTCATAAAG	0.388													5	109					0	0	0	0	G	31725112	C	G	31725112	3	3	127	1	0	0	0	0	1	0	0	0	7484	826	29	2	1744	2	HSPH1	13	31725112	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	5597156	31725112	83444766	320	24529											
RXFP2	122042	broad.mit.edu	37	chr13	32376538	32376538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtataatgaaaccagtttCctagcaatcattttggatca	14	13	6	8	0	2	1	2	1	0	0	3	2	3	2	2	1	2	3	2	1	5	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:32376538C>T	ENST00000298386.2	+	18	2332	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	RXFP2_ENST00000380314.1_Missense_Mutation_p.S730F	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	754						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AAACCAGTTTCCTAGCAATCA	0.403													7	398					0	0	0	0	T	32376538	C	T	32376538	3	4	127	1	0	0	0	0	1	0	0	0	13845	855	30	2	2331	2	RXFP2	13	32376538	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	651426	32376538	82793340	321	24530											
DCLK1	9201	broad.mit.edu	37	chr13	36384994	36384994	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtctctgcaatgatttctgGagccacgtatgttggggtgc	7	13	13	8	1	2	1	0	1	2	0	3	2	2	2	1	3	3	3	1	3	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:36384994G>C	ENST00000255448.4	-	12	1877	c.1666C>G	c.(1666-1668)Cca>Gca	p.P556A	DCLK1_ENST00000360631.3_Missense_Mutation_p.P556A|DCLK1_ENST00000379893.1_Missense_Mutation_p.P249A	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	556	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATGATTTCTGGAGCCACGTAT	0.483													15	223					0	0	0	0	C	36384994	G	C	36384994	3	2	127	1	0	0	0	0	1	0	0	0	4323	1174	41	2	551	2	DCLK1	13	36384994	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	4008456	36384994	78784884	322	24531											
DCLK1	9201	broad.mit.edu	37	chr13	36700207	36700207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccgttcacccgcgaccctCggctgtatctctgcgcctta	4	10	10	17	5	2	0	1	0	1	0	4	1	2	0	4	2	1	3	4	2	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:36700207C>T	ENST00000255448.4	-	2	279	c.68G>A	c.(67-69)cGa>cAa	p.R23Q	DCLK1_ENST00000360631.3_Missense_Mutation_p.R23Q|DCLK1_ENST00000379892.4_Missense_Mutation_p.R23Q	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	23					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCGCGACCCTCGGCTGTATCT	0.637													10	133					0	0	0	0	T	36700207	C	T	36700207	3	4	127	1	0	0	0	0	1	0	0	0	4323	884	31	1	2189	1	DCLK1	13	36700207	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	315213	36700207	78469671	323	24532											
FREM2	341640	broad.mit.edu	37	chr13	39264296	39264296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtccggccagtggatgatGaagtgcccatactgagccat	10	9	12	10	1	0	3	0	3	0	0	1	4	1	4	4	2	3	0	4	2	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:39264296G>A	ENST00000280481.7	+	1	3031	c.2815G>A	c.(2815-2817)Gaa>Aaa	p.E939K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	939					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTGGATGATGAAGTGCCCAT	0.493													4	62					0	0	0	0	A	39264296	G	A	39264296	3	1	127	1	0	0	0	0	1	0	0	0	6093	1291	45	2	2817	2	FREM2	13	39264296	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2564089	39264296	75905582	324	24533											
ELF1	1997	broad.mit.edu	37	chr13	41515396	41515396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatctgaagactctatgctgGaacttggatcctcatcattt	10	14	8	9	0	4	2	2	1	2	1	5	5	5	4	1	2	2	1	1	2	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:41515396G>A	ENST00000239882.3	-	8	1231	c.917C>T	c.(916-918)tCc>tTc	p.S306F	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.S282F	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	306					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTCTATGCTGGAACTTGGATC	0.418													9	194					0	0	0	0	A	41515396	G	A	41515396	3	1	127	1	0	0	0	0	1	0	0	0	5091	1174	41	2	950	2	ELF1	13	41515396	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2251100	41515396	73654482	325	24534											
SERPINE3	647174	broad.mit.edu	37	chr13	51915427	51915427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctggagatcctgcagtttgGagcagaagggagcactggtc	9	8	15	9	0	0	2	0	0	0	2	2	5	1	4	2	4	3	4	2	4	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:51915427G>A	ENST00000524365.1	+	4	825	c.200G>A	c.(199-201)gGa>gAa	p.G67E	SERPINE3_ENST00000400389.4_Missense_Mutation_p.G67E|SERPINE3_ENST00000521255.1_Missense_Mutation_p.G67E			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	67					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CTGCAGTTTGGAGCAGAAGGG	0.572													3	37					0	0	0	0	A	51915427	G	A	51915427	3	1	127	1	0	0	0	0	1	0	0	0	14200	1174	41	2	202	2	SERPINE3	13	51915427	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	10400031	51915427	63254451	326	24535											
GPC5	2262	broad.mit.edu	37	chr13	92380913	92380913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagagacgcttgccaacaGaagaaagtaagacatttgtt	16	9	10	6	1	0	5	0	1	0	4	0	6	0	5	1	0	2	3	1	0	5	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:92380913G>A	ENST00000377067.3	+	4	1520	c.1148G>A	c.(1147-1149)aGa>aAa	p.R383K	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	383						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTTGCCAACAGAAGAAAGTAA	0.363													7	84					0	0	0	0	A	92380913	G	A	92380913	3	1	127	1	0	0	0	0	1	0	0	0	6650	942	33	2	1162	2	GPC5	13	92380913	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	40465486	92380913	22788965	327	24536											
DZIP1	22873	broad.mit.edu	37	chr13	96238340	96238340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtttgttcacatttttgcGatgtggaaacatcttttcaa	9	18	8	6	1	3	0	2	0	1	0	3	2	3	1	0	2	2	2	0	2	2	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:96238340G>A	ENST00000347108.3	-	19	2701	c.2269C>T	c.(2269-2271)Cgc>Tgc	p.R757C	DZIP1_ENST00000361396.2_Missense_Mutation_p.R738C|DZIP1_ENST00000361156.3_Missense_Mutation_p.R738C|DZIP1_ENST00000376829.2_Missense_Mutation_p.R757C			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	757					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ACATTTTTGCGATGTGGAAAC	0.318													5	78					0	0	0	0	A	96238340	G	A	96238340	3	1	127	1	0	0	0	0	1	0	0	0	4899	1058	37	1	346	1	DZIP1	13	96238340	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3857427	96238340	18931538	328	24537											
UGGT2	55757	broad.mit.edu	37	chr13	96675963	96675963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgatgtgtaaattgtctaGaaactgtccagctttcttca	10	16	8	7	0	3	2	1	1	2	1	4	2	4	2	1	0	2	3	1	0	4	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:96675963G>C	ENST00000376747.3	-	3	362	c.292C>G	c.(292-294)Cta>Gta	p.L98V	UGGT2_ENST00000397618.3_Missense_Mutation_p.L98V|UGGT2_ENST00000376712.4_Missense_Mutation_p.L98V|UGGT2_ENST00000376714.3_Missense_Mutation_p.L98V	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	98					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AAATTGTCTAGAAACTGTCCA	0.328													10	170					0	0	0	0	C	96675963	G	C	96675963	3	2	127	1	0	0	0	0	1	0	0	0	17038	933	33	2	4406	2	UGGT2	13	96675963	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	437623	96675963	18493915	329	24538											
TPP2	7174	broad.mit.edu	37	chr13	103279445	103279445	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggggtagctcctggtgctCaaattctttccatcaagatt	9	14	9	9	0	3	1	2	0	1	1	5	1	5	1	2	3	2	3	2	3	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr13:103279445C>T	ENST00000376052.3	+	7	884	c.868C>T	c.(868-870)Caa>Taa	p.Q290*	TPP2_ENST00000376065.4_Nonsense_Mutation_p.Q290*			P29144	TPP2_HUMAN	tripeptidyl peptidase II	290					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTGGTGCTCAAATTCTTTC	0.458													5	111					0	0	0	0	T	103279445	C	T	103279445	4	4	127	1	0	0	0	0	0	1	0	0	16507	827	29	2	894	2	TPP2	13	103279445	Nonsense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	6603482	103279445	11890433	330	24539											
OR4K1	79544	broad.mit.edu	37	chr14	20404108	20404108	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgcaagactatctcctttGagggttgcatggcccagata	10	10	11	10	1	1	3	0	1	1	2	2	3	1	3	2	2	2	3	2	2	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:20404108G>C	ENST00000285600.4	+	1	342	c.283G>C	c.(283-285)Gag>Cag	p.E95Q		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TATCTCCTTTGAGGGTTGCAT	0.403													5	442					0	0	0	0	C	20404108	G	C	20404108	3	2	127	1	0	0	0	0	1	0	0	0	11138	1291	45	2	285	2	OR4K1	14	20404108	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08		20404108	86945432	331	24540											
OR4N5	390437	broad.mit.edu	37	chr14	20612771	20612771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttatacgcttcgcaaccagGaggtgaaagcttccatgagg	11	10	11	9	2	0	2	0	2	0	0	2	3	1	3	2	3	3	3	2	3	4	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:20612771G>A	ENST00000333629.1	+	1	877	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCGCAACCAGGAGGTGAAAGC	0.413													10	151					0	0	0	0	A	20612771	G	A	20612771	3	1	127	1	0	0	0	0	1	0	0	0	11150	1175	41	2	879	2	OR4N5	14	20612771	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	208663	20612771	86736769	332	24541											
AKAP6	9472	broad.mit.edu	37	chr14	33014457	33014457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccggcttgattctctaacaGaagtggatgactcaggacaa	12	9	11	9	1	2	3	1	2	1	1	3	5	2	5	1	3	1	1	1	3	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:33014457G>A	ENST00000280979.4	+	4	768	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	AKAP6_ENST00000557354.1_Missense_Mutation_p.E200K|AKAP6_ENST00000557272.1_Missense_Mutation_p.E200K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	200					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)		TTCTCTAACAGAAGTGGATGA	0.398													4	149					0	0	0	0	A	33014457	G	A	33014457	3	1	127	1	0	0	0	0	1	0	0	0	455	943	33	2	608	2	AKAP6	14	33014457	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	12401686	33014457	74335083	333	24542											
C14orf39	317761	broad.mit.edu	37	chr14	60935201	60935201	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttttctgtatttttgttCttttcttccagagtttctga	4	24	6	7	0	4	2	0	1	4	1	5	2	5	2	1	0	0	4	1	0	1	10			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:60935201C>G	ENST00000321731.3	-	9	888	c.729G>C	c.(727-729)aaG>aaC	p.K243N		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	243										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TATTTTTGTTCTTTTCTTCCA	0.289													4	159					0	0	0	0	G	60935201	C	G	60935201	3	3	127	1	0	0	0	0	1	0	0	0	1784	912	32	2	1074	2	C14orf39	14	60935201	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	27920744	60935201	46414339	334	24543											
KCNH5	27133	broad.mit.edu	37	chr14	63174643	63174643	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtttttggtcacactgttCtctgaatcactgctcttggg	5	16	11	9	0	4	1	2	1	2	0	5	1	4	1	0	3	1	3	0	3	1	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:63174643C>T	ENST00000322893.7	-	11	2818	c.2550G>A	c.(2548-2550)gaG>gaA	p.E850E	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	850					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCACACTGTTCTCTGAATCAC	0.453													5	217					0	0	0	0	T	63174643	C	T	63174643	2	4	127	1	0	0	0	0	0	0	0	1	8088	912	32	2		2	KCNH5	14	63174643	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2239442	63174643	44174897	335	24544											
SYNE2	23224	broad.mit.edu	37	chr14	64691258	64691258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacatccgtgccagctccccGagcaaaggtaagaagcccct	12	5	9	15	2	0	1	0	0	0	1	2	2	2	1	6	1	5	3	6	1	4	1	rs148791608		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:64691258G>A	ENST00000357395.3	+	114	20692	c.9548G>A	c.(9547-9549)cGa>cAa	p.R3183Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.R6714Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6821Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R676Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.R343Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.R6798Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R469Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3183Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3455Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.R581Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6798					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAGCTCCCCGAGCAAAGGTA	0.542													6	74					0	0	0	0	A	64691258	G	A	64691258	3	1	127	1	0	0	0	0	1	0	0	0	15537	1058	37	1	20954	1	SYNE2	14	64691258	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1516615	64691258	42658282	336	24545											
ZFYVE1	53349	broad.mit.edu	37	chr14	73437692	73437692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgggagcactcatcacaGaagccctgtccgcaggcccg	9	6	11	15	2	3	1	3	0	0	1	4	2	4	2	3	2	2	2	3	2	1	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:73437692G>A	ENST00000556143.1	-	12	2952	c.2232C>T	c.(2230-2232)ttC>ttT	p.F744F	ZFYVE1_ENST00000318876.5_Silent_p.F730F|ZFYVE1_ENST00000555072.1_Silent_p.F329F|ZFYVE1_ENST00000553891.1_Silent_p.F744F|ZFYVE1_ENST00000394207.2_Silent_p.F329F	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	744						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		ACTCATCACAGAAGCCCTGTC	0.592													11	94					0	0	0	0	A	73437692	G	A	73437692	2	1	127	1	0	0	0	0	0	0	0	1	17758	933	33	2		2	ZFYVE1	14	73437692	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	8746434	73437692	33911848	337	24546											
PROX2	283571	broad.mit.edu	37	chr14	75323591	75323591	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagcattttgggatttgtGacaccatctgaaattgcttg	10	14	9	8	0	1	2	0	2	1	0	1	3	1	3	2	1	2	2	2	1	1	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:75323591G>A	ENST00000556084.2	-	2	839	c.840C>T	c.(838-840)gtC>gtT	p.V280V	PROX2_ENST00000556489.2_Silent_p.V507V|PROX2_ENST00000445876.1_Silent_p.V507V	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	507					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TGGGATTTGTGACACCATCTG	0.418													8	144					0	0	0	0	A	75323591	G	A	75323591	2	1	127	1	0	0	0	0	0	0	0	1	12641	1277	45	2		2	PROX2	14	75323591	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1885899	75323591	32025949	338	24547											
MLH3	27030	broad.mit.edu	37	chr14	75513215	75513215	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcttcccagggctacatcGaaatgccgctgccaatctga	10	10	8	13	2	2	1	0	1	2	0	4	2	3	1	3	1	3	2	3	1	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:75513215G>A	ENST00000355774.2	-	2	3359	c.3144C>T	c.(3142-3144)ttC>ttT	p.F1048F	MLH3_ENST00000556257.1_Silent_p.F1048F|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Silent_p.F1048F|MLH3_ENST00000238662.7_Silent_p.F1048F|MLH3_ENST00000544985.1_Silent_p.F43F	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1048					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGGCTACATCGAAATGCCGCT	0.433								Mismatch excision repair (MMR)					11	127					0	0	0	0	A	75513215	G	A	75513215	2	1	127	1	0	0	0	0	0	0	0	1	9687	1049	37	1		1	MLH3	14	75513215	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	189624	75513215	31836325	339	24548											
SPTLC2	9517	broad.mit.edu	37	chr14	78028818	78028818	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatgattcagttcatcactCagaatcaggcaaccctgcaa	13	9	7	12	0	5	2	5	1	0	1	5	2	5	2	1	1	2	4	1	1	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:78028818C>G	ENST00000216484.2	-	6	964	c.771G>C	c.(769-771)ctG>ctC	p.L257L		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	257						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GTTCATCACTCAGAATCAGGC	0.433													7	79					0	0	0	0	G	78028818	C	G	78028818	2	3	127	1	0	0	0	0	0	0	0	1	15214	813	29	2		2	SPTLC2	14	78028818	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2515603	78028818	29320722	340	24549											
GALC	2581	broad.mit.edu	37	chr14	88429749	88429749	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtttcaatgatgatggtGaggttccctaagccatcagt	10	13	11	7	0	2	3	2	3	0	0	3	3	3	3	2	3	1	2	2	3	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:88429749G>A	ENST00000261304.2	-	10	1246	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	GALC_ENST00000393569.2_Silent_p.L354L|GALC_ENST00000393568.4_Silent_p.L357L|GALC_ENST00000544807.2_Silent_p.L324L	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	380					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGATGATGGTGAGGTTCCCTA	0.378													5	100					0	0	0	0	A	88429749	G	A	88429749	2	1	127	1	0	0	0	0	0	0	0	1	6250	1277	45	2		2	GALC	14	88429749	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	10400931	88429749	18919791	341	24550											
SERPINA6	866	broad.mit.edu	37	chr14	94780855	94780855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaggctgaaggcaaagtcaAcgttggctgaagccaggccc	12	5	13	11	1	1	2	1	2	0	0	1	2	1	2	2	4	2	4	2	4	4	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:94780855A>G	ENST00000341584.3	-	2	277	c.131T>C	c.(130-132)gTt>gCt	p.V44A		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	44					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGCAAAGTCAACGTTGGCTGA	0.542													18	111					0	0	0	0	G	94780855	A	G	94780855	3	3	127	1	0	0	0	0	1	0	0	0	14180	43	2	5	1102	5	SERPINA6	14	94780855	Missense_Mutation	SNP	A	TCGA-CN-A6V1-01A-12D-A34J-08	6351106	94780855	12568685	342	24551											
SERPINA5	5104	broad.mit.edu	37	chr14	95058471	95058471	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggggacaatattcactttCaggtcggcccgcctgaactc	9	9	10	13	3	2	1	2	1	0	0	4	2	2	2	2	4	1	0	2	4	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr14:95058471C>T	ENST00000329597.7	+	6	1326	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	SERPINA5_ENST00000554866.1_Silent_p.F372F|SERPINA5_ENST00000553780.1_Silent_p.F372F|SERPINA5_ENST00000554276.1_Silent_p.F372F|SERPINA3_ENST00000553947.1_5'UTR	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	372					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TATTCACTTTCAGGTCGGCCC	0.557													20	405					0	0	0	0	T	95058471	C	T	95058471	2	4	127	1	0	0	0	0	0	0	0	1	14179	825	29	2		2	SERPINA5	14	95058471	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	277616	95058471	12291069	343	24552											
GABRB3	2562	broad.mit.edu	37	chr15	27184489	27184489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcactggggcatcgccaatGaaatgcccccgatttcaaag	11	7	11	12	2	1	1	1	1	0	0	2	2	1	1	3	3	1	2	3	3	3	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:27184489G>A	ENST00000541819.2	-	1	197	c.95C>T	c.(94-96)tCa>tTa	p.S32L	GABRA5_ENST00000400081.3_Intron|GABRA5_ENST00000355395.5_Intron|GABRA5_ENST00000335625.5_Intron			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	0			G -> R (in ECA5; the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type).		synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	CATCGCCAATGAAATGCCCCC	0.577													7	93					0	0	0	0	A	27184489	G	A	27184489	3	1	127	1	0	0	0	0	1	0	0	0	6216	1305	45	2		2	GABRB3	15	27184489	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08		27184489	75346903	344	24553											
FMN1	342184	broad.mit.edu	37	chr15	33261005	33261005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgaggacattgactggaaGaagagccaagtccaaagaag	16	6	12	7	1	0	4	0	1	0	3	2	7	1	6	2	2	1	0	2	2	5	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:33261005G>A	ENST00000334528.9	-	4	2227	c.2228C>T	c.(2227-2229)tCt>tTt	p.S743F	FMN1_ENST00000559047.1_Missense_Mutation_p.S966F|FMN1_ENST00000561249.1_Missense_Mutation_p.S868F	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	966	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTGACTGGAAGAAGAGCCAAG	0.552													6	105					0	0	0	0	A	33261005	G	A	33261005	3	1	127	1	0	0	0	0	1	0	0	0	5994	942	33	2	1418	2	FMN1	15	33261005	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	6076516	33261005	69270387	345	24554											
MAPKBP1	23005	broad.mit.edu	37	chr15	42113896	42113896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctggaacctgcacccattGaagatggtattgtctacccg	10	11	9	11	1	2	2	0	1	2	1	2	3	2	3	3	2	3	2	3	2	4	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:42113896G>A	ENST00000457542.2	+	24	3119	c.2833G>A	c.(2833-2835)Gaa>Aaa	p.E945K	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E784K|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E828K|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E945K|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.E951K	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	951										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGCACCCATTGAAGATGGTAT	0.562													8	78					0	0	0	0	A	42113896	G	A	42113896	3	1	127	1	0	0	0	0	1	0	0	0	9361	1291	45	2	2945	2	MAPKBP1	15	42113896	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	8852891	42113896	60417496	346	24555											
MAP1A	4130	broad.mit.edu	37	chr15	43815760	43815760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtaactccaaggagccggGaggcttttgggggtcgggaa	9	7	18	7	2	0	0	0	0	0	0	2	3	1	3	2	7	2	2	2	7	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:43815760G>A	ENST00000382031.1	+	5	2834	c.2803G>A	c.(2803-2805)Gag>Aag	p.E935K	MAP1A_ENST00000300231.5_Missense_Mutation_p.E697K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E697K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	697						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGGAGCCGGGAGGCTTTTGG	0.547													4	38					0	0	0	0	A	43815760	G	A	43815760	3	1	127	1	0	0	0	0	1	0	0	0	9296	1175	41	2	2091	2	MAP1A	15	43815760	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1701864	43815760	58715632	347	24556											
FRMD5	84978	broad.mit.edu	37	chr15	44181013	44181013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagccagcactcacctctttCtgacttacgtataaatagaa	14	11	5	11	1	3	2	1	1	2	1	3	2	3	2	2	0	3	2	2	0	7	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:44181013C>G	ENST00000417257.1	-	9	962	c.786G>C	c.(784-786)caG>caC	p.Q262H	FRMD5_ENST00000484674.1_Intron|FRMD5_ENST00000402883.1_Missense_Mutation_p.Q262H	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	262	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TCACCTCTTTCTGACTTACGT	0.502													17	105					0	0	0	0	G	44181013	C	G	44181013	3	3	127	1	0	0	0	0	1	0	0	0	6101	912	32	2	950	2	FRMD5	15	44181013	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	365253	44181013	58350379	348	24557											
SECISBP2L	9728	broad.mit.edu	37	chr15	49320677	49320677	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccagaatcaggatttctCaaagcccctgctgcaggctg	9	9	10	13	0	2	1	2	0	1	1	4	2	3	2	3	2	3	3	3	2	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:49320677C>T	ENST00000559471.1	-	5	1130	c.867G>A	c.(865-867)ttG>ttA	p.L289L	SECISBP2L_ENST00000261847.3_Silent_p.L289L	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	289										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CAGGATTTCTCAAAGCCCCTG	0.438													6	91					0	0	0	0	T	49320677	C	T	49320677	2	4	127	1	0	0	0	0	0	0	0	1	14094	825	29	2		2	SECISBP2L	15	49320677	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	5139664	49320677	53210715	349	24558											
USP8	9101	broad.mit.edu	37	chr15	50790857	50790857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggacttcccgttagaaaatCttgacttgtcacagtatgtt	10	15	8	8	1	2	2	1	1	1	1	3	3	3	3	1	1	0	3	1	1	4	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:50790857C>G	ENST00000433963.1	+	20	3603	c.3103C>G	c.(3103-3105)Ctt>Gtt	p.L1035V	USP8_ENST00000396444.3_Missense_Mutation_p.L1035V|USP8_ENST00000307179.4_Missense_Mutation_p.L1035V|USP8_ENST00000425032.3_Missense_Mutation_p.L929V|RP11-562A8.4_ENST00000560380.1_RNA	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1035					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GTTAGAAAATCTTGACTTGTC	0.343													4	134					0	0	0	0	G	50790857	C	G	50790857	3	3	127	1	0	0	0	0	1	0	0	0	17185	913	32	2	3173	2	USP8	15	50790857	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1470180	50790857	51740535	350	24559											
TRPM7	54822	broad.mit.edu	37	chr15	50888513	50888513	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaaagaggtagactgcttGaagaaatggagtcaaccacg	16	7	11	7	1	1	4	1	1	0	3	1	5	1	5	1	2	3	2	1	2	6	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:50888513G>A	ENST00000313478.7	-	23	3510	c.3229C>T	c.(3229-3231)Caa>Taa	p.Q1077*	TRPM7_ENST00000560955.1_Nonsense_Mutation_p.Q1077*	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1077					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TAGACTGCTTGAAGAAATGGA	0.318													8	120					0	0	0	0	A	50888513	G	A	50888513	4	1	127	1	0	0	0	0	0	1	0	0	16686	1299	45	2	2436	2	TRPM7	15	50888513	Nonsense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	97656	50888513	51642879	351	24560											
TNFAIP8L3	388121	broad.mit.edu	37	chr15	51350317	51350317	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttcctatcgaaggtgtattCcacctcatagaagctgacaa	12	11	8	10	1	1	2	1	1	0	1	4	3	3	2	3	1	1	3	3	1	6	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:51350317C>G	ENST00000327536.5	-	3	739	c.640G>C	c.(640-642)Gaa>Caa	p.E214Q	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	214										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AAGGTGTATTCCACCTCATAG	0.547													8	112					0	0	0	0	G	51350317	C	G	51350317	3	3	127	1	0	0	0	0	1	0	0	0	16373	864	30	2	242	2	TNFAIP8L3	15	51350317	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	461804	51350317	51181075	352	24561											
DMXL2	23312	broad.mit.edu	37	chr15	51791702	51791702	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggagtaccatcaacagaaGataccaagtctatagatcta	18	8	7	8	0	3	3	1	0	2	3	3	4	3	4	2	1	3	1	2	1	9	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:51791702G>C	ENST00000251076.5	-	18	4006	c.3719C>G	c.(3718-3720)tCt>tGt	p.S1240C	DMXL2_ENST00000543779.2_Missense_Mutation_p.S1240C|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1240						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATCAACAGAAGATACCAAGTC	0.418													9	134					0	0	0	0	C	51791702	G	C	51791702	3	2	127	1	0	0	0	0	1	0	0	0	4632	942	33	2	5498	2	DMXL2	15	51791702	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	441385	51791702	50739690	353	24562											
RFX7	64864	broad.mit.edu	37	chr15	56387730	56387730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataacaagggcagaggaattCaagggttgatttgctcctat	13	11	11	6	0	1	2	1	1	0	1	2	3	2	3	1	3	2	3	1	3	5	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:56387730C>T	ENST00000423270.1	-	9	2195	c.2196G>A	c.(2194-2196)ttG>ttA	p.L732L	RFX7_ENST00000317318.6_Silent_p.L732L|RFX7_ENST00000559447.2_Silent_p.L635L|RFX7_ENST00000422057.1_Silent_p.L635L	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	635					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CAGAGGAATTCAAGGGTTGAT	0.413													4	57					0	0	0	0	T	56387730	C	T	56387730	2	4	127	1	0	0	0	0	0	0	0	1	13350	825	29	2		2	RFX7	15	56387730	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	4596028	56387730	46143662	354	24563											
SMAD3	4088	broad.mit.edu	37	chr15	67477138	67477138	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtgacagcgctatttttgtCcagtctcccaactgtaacca	10	12	7	12	1	1	1	0	1	1	0	3	1	2	1	3	0	3	2	3	0	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:67477138C>G	ENST00000327367.4	+	7	1255	c.945C>G	c.(943-945)gtC>gtG	p.V315V	SMAD3_ENST00000537194.2_Silent_p.V120V|SMAD3_ENST00000540846.2_Silent_p.V210V|SMAD3_ENST00000439724.3_Silent_p.V271V	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	315	MH2.|Sufficient for interaction with XPO4.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CTATTTTTGTCCAGTCTCCCA	0.582													6	81					0	0	0	0	G	67477138	C	G	67477138	2	3	127	1	0	0	0	0	0	0	0	1	14847	842	30	2		2	SMAD3	15	67477138	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	11089408	67477138	35054254	355	24564											
C15orf39	56905	broad.mit.edu	37	chr15	75498768	75498768	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctacccaggcccaccaCtggcagcacccaaacctgtc	10	5	6	20	0	0	0	0	0	0	0	2	0	1	0	6	2	3	2	6	2	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:75498768C>G	ENST00000360639.2	+	2	699	c.379C>G	c.(379-381)Ctg>Gtg	p.L127V	C15orf39_ENST00000394987.4_Missense_Mutation_p.L127V|C15orf39_ENST00000567617.1_Missense_Mutation_p.L127V			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	127										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGGCCCACCACTGGCAGCACC	0.607													4	41					0	0	0	0	G	75498768	C	G	75498768	3	3	127	1	0	0	0	0	1	0	0	0	1805	564	20	4	381	4	C15orf39	15	75498768	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	8021630	75498768	27032624	356	24565											
FANCI	55215	broad.mit.edu	37	chr15	89843085	89843085	+	Silent	SNP	G	G	A																															tcagtggaagagtcgggaaaGaaagagaaaggaaagagcat																										TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:89843085G>A	ENST00000310775.7	+	25	2777	c.2691G>A	c.(2689-2691)aaG>aaA	p.K897K	FANCI_ENST00000300027.8_Silent_p.K837K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	897					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGTCGGGAAAGAAAGAGAAAG	0.428								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	79					0	0	0	0	A	89843085	G	A	89843085	2	1	127	1	0	0	0	0	0	0	0	1	5714	933	33	2		2	FANCI	15	89843085	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	14344317	89843085	12688307	357	24566	200	2									
FANCI	55215	broad.mit.edu	37	chr15	89843089	89843089	+	Missense_Mutation	SNP	G	G	A																															tggaagagtcgggaaagaaaGagaaaggaaagagcatctca																										TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:89843089G>A	ENST00000310775.7	+	25	2781	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K	FANCI_ENST00000300027.8_Missense_Mutation_p.E839K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	899					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GGGAAAGAAAGAGAAAGGAAA	0.423								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	84					0	0	0	0	A	89843089	G	A	89843089	3	1	127	1	0	0	0	0	1	0	0	0	5714	943	33	2	2789	2	FANCI	15	89843089	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	4	89843089	12688303	358	24567	200	2									
FANCI	55215	broad.mit.edu	37	chr15	89844556	89844556	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtgtgccttcctttctcaGaggtccttgttgaatttact	5	18	9	9	0	1	2	1	1	1	1	4	2	3	2	3	1	2	1	3	1	2	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:89844556G>A	ENST00000310775.7	+	27	2975		c.e27-1		FANCI_ENST00000300027.8_Splice_Site	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I						cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCCTTTCTCAGAGGTCCTTGT	0.443								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	106					0	0	0	0	A	89844556	G	A	89844556	5	1	127	1	0	0	0	0	0	0	1	0	5714	956	33	2	2991	2	FANCI	15	89844556	Splice_Site	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1467	89844556	12686836	359	24568											
UNC45A	55898	broad.mit.edu	37	chr15	91478818	91478818	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggagggcaatgagctgttCaaatgtggagactacggggg	12	7	17	5	1	1	2	1	1	0	1	1	4	1	3	0	5	2	3	0	5	4	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:91478818C>G	ENST00000394275.2	+	5	886	c.51C>G	c.(49-51)ttC>ttG	p.F17L	UNC45A_ENST00000418476.2_Missense_Mutation_p.F32L|UNC45A_ENST00000553671.2_3'UTR	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	32					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ATGAGCTGTTCAAATGTGGAG	0.682													7	104					0	0	0	0	G	91478818	C	G	91478818	3	3	127	1	0	0	0	0	1	0	0	0	17084	825	29	2	102	2	UNC45A	15	91478818	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1634262	91478818	11052574	360	24569											
SLCO3A1	28232	broad.mit.edu	37	chr15	92647588	92647588	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctctgcggtgccttactCttcttctcttccctcttgat	2	18	6	15	1	5	1	0	1	5	0	7	1	6	1	2	1	4	1	2	1	1	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr15:92647588C>T	ENST00000318445.6	+	4	1039	c.825C>T	c.(823-825)ctC>ctT	p.L275L	SLCO3A1_ENST00000424469.2_Silent_p.L275L|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	275					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GTGCCTTACTCTTCTTCTCTT	0.577													6	132					0	0	0	0	T	92647588	C	T	92647588	2	4	127	1	0	0	0	0	0	0	0	1	14816	900	32	2		2	SLCO3A1	15	92647588	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1168770	92647588	9883804	361	24570											
ADCY9	115	broad.mit.edu	37	chr16	4164326	4164326	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggagctttttggatggaaGactttttcttcctgttcttg	6	19	10	6	0	2	1	0	0	2	1	3	4	3	4	1	3	1	2	1	3	2	8			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:4164326G>C	ENST00000294016.3	-	2	1656	c.1118C>G	c.(1117-1119)tCt>tGt	p.S373C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	373					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGGATGGAAGACTTTTTCTT	0.453													5	122					0	0	0	0	C	4164326	G	C	4164326	3	2	127	1	0	0	0	0	1	0	0	0	301	942	33	2	2983	2	ADCY9	16	4164326	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08		4164326	86190427	362	24571											
PPL	5493	broad.mit.edu	37	chr16	4937178	4937178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactccagattctgcagcctCtgtctgttgatggcataaac	10	12	8	11	0	3	2	0	1	3	1	4	2	4	2	2	1	4	3	2	1	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:4937178C>G	ENST00000345988.2	-	21	2654	c.2565G>C	c.(2563-2565)caG>caC	p.Q855H	PPL_ENST00000590782.2_Missense_Mutation_p.Q853H	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	855					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTGCAGCCTCTGTCTGTTGA	0.463													17	275					0	0	0	0	G	4937178	C	G	4937178	3	3	127	1	0	0	0	0	1	0	0	0	12410	912	32	2	2713	2	PPL	16	4937178	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	772852	4937178	85417575	363	24572											
TMC5	79838	broad.mit.edu	37	chr16	19501762	19501762	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttttcgaggtctgcctctCttcattcactccatctacag	6	15	5	15	1	5	0	2	0	3	0	8	1	6	0	3	1	2	0	3	1	1	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:19501762C>T	ENST00000396229.2	+	18	3368	c.2619C>T	c.(2617-2619)ctC>ctT	p.L873L	TMC5_ENST00000564959.1_Silent_p.L556L|TMC5_ENST00000561503.1_Silent_p.L514L|TMC5_ENST00000542583.2_Silent_p.L873L|TMC5_ENST00000541464.1_Silent_p.L821L|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000219821.5_Silent_p.L627L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	873						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTCTGCCTCTCTTCATTCACT	0.483													4	195					0	0	0	0	T	19501762	C	T	19501762	2	4	127	1	0	0	0	0	0	0	0	1	16082	900	32	2		2	TMC5	16	19501762	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	14564584	19501762	70852991	364	24573											
DNAH3	55567	broad.mit.edu	37	chr16	21147730	21147730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctccaggaagggactcgtCagcagcgtgttagaaatcag	11	7	14	9	2	2	1	2	0	0	1	4	3	3	3	1	3	2	3	1	3	3	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:21147730C>T	ENST00000261383.3	-	6	800	c.801G>A	c.(799-801)ctG>ctA	p.L267L	DNAH3_ENST00000415178.1_Silent_p.L267L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	267	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGGACTCGTCAGCAGCGTGT	0.498													7	156					0	0	0	0	T	21147730	C	T	21147730	2	4	127	1	0	0	0	0	0	0	0	1	4640	813	29	2		2	DNAH3	16	21147730	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1645968	21147730	69207023	365	24574											
POLR3E	55718	broad.mit.edu	37	chr16	22320778	22320778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacaagcagaccttctgctCttcccagaccaccagtaaca	12	7	7	15	0	2	2	0	0	2	2	3	3	3	3	4	1	3	3	4	1	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:22320778C>T	ENST00000299853.5	+	6	478	c.311C>T	c.(310-312)tCt>tTt	p.S104F	POLR3E_ENST00000418581.2_Missense_Mutation_p.S68F|POLR3E_ENST00000359210.4_Missense_Mutation_p.S104F|POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000564209.1_Missense_Mutation_p.S104F	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	104					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ACCTTCTGCTCTTCCCAGACC	0.637													5	381					0	0	0	0	T	22320778	C	T	22320778	3	4	127	1	0	0	0	0	1	0	0	0	12304	913	32	2	329	2	POLR3E	16	22320778	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1173048	22320778	68033975	366	24575											
CD2BP2	10421	broad.mit.edu	37	chr16	30364372	30364372	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaccaggggggtccagcttCcggcaataaacaccgtccgg	9	5	12	15	3	0	0	0	0	0	0	3	0	3	0	6	5	2	2	6	5	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:30364372C>T	ENST00000305596.3	-	7	1135	c.960G>A	c.(958-960)cgG>cgA	p.R320R	CD2BP2_ENST00000569466.1_Silent_p.R320R	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	320	GYF.				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						GGTCCAGCTTCCGGCAATAAA	0.587													4	51					0	0	0	0	T	30364372	C	T	30364372	2	4	127	1	0	0	0	0	0	0	0	1	3024	842	30	2		2	CD2BP2	16	30364372	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	8043594	30364372	59990381	367	24576											
ITGAD	3681	broad.mit.edu	37	chr16	31429877	31429877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtatgcagtctacaccatGatcagcaggtgcccagtccc	11	8	9	13	0	2	1	1	1	1	0	3	1	3	1	3	1	4	3	3	1	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:31429877G>A	ENST00000389202.2	+	23	2821	c.2772G>A	c.(2770-2772)atG>atA	p.M924I		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	924					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTACACCATGATCAGCAGGT	0.557													5	92					0	0	0	0	A	31429877	G	A	31429877	3	1	127	1	0	0	0	0	1	0	0	0	7937	1290	45	2	2862	2	ITGAD	16	31429877	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1065505	31429877	58924876	368	24577											
IRX6	79190	broad.mit.edu	37	chr16	55359008	55359008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gccagggacagccaccatgtCcttcccacactttggacacc	9	7	8	17	0	0	0	0	0	0	0	2	2	2	2	6	2	1	0	6	2	0	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:55359008C>G	ENST00000290552.7	+	1	1337	c.5C>G	c.(4-6)tCc>tGc	p.S2C	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	2						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCCACCATGTCCTTCCCACAC	0.627													4	42					0	0	0	0	G	55359008	C	G	55359008	3	3	127	1	0	0	0	0	1	0	0	0	7901	855	30	2	7	2	IRX6	16	55359008	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	23929131	55359008	34995745	369	24578											
OGFOD1	55239	broad.mit.edu	37	chr16	56485645	56485645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgaaaaagcaggtggctGaggcctggagccgcaggacg	10	5	16	10	2	0	2	0	2	0	0	0	4	0	4	3	5	2	3	3	5	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:56485645G>A	ENST00000566157.1	+	1	244	c.121G>A	c.(121-123)Gag>Aag	p.E41K	OGFOD1_ENST00000568397.1_Missense_Mutation_p.E41K	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	41							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GCAGGTGGCTGAGGCCTGGAG	0.612													4	73					0	0	0	0	A	56485645	G	A	56485645	3	1	127	1	0	0	0	0	1	0	0	0	10912	1291	45	2	123	2	OGFOD1	16	56485645	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1126637	56485645	33869108	370	24579											
HERPUD1	9709	broad.mit.edu	37	chr16	56973985	56973985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggagccaatcaaaatttgCggatgaatgcacaaggtggc	13	8	12	8	1	1	1	1	1	0	0	1	3	1	3	1	4	3	1	1	4	5	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:56973985C>T	ENST00000439977.2	+	6	930	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Missense_Mutation_p.R220W|HERPUD1_ENST00000300302.5_Missense_Mutation_p.R244W	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	245						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TCAAAATTTGCGGATGAATGC	0.438			T	ERG	prostate								4	107					0	0	0	0	T	56973985	C	T	56973985	3	4	127	1	0	0	0	0	1	0	0	0	7113	759	27	1	755	1	HERPUD1	16	56973985	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	488340	56973985	33380768	371	24580											
KATNB1	10300	broad.mit.edu	37	chr16	57786825	57786825	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtggccgacctggccatCtgcaatgaccagttggtgag	9	8	14	10	1	1	2	0	2	1	0	1	3	1	2	4	4	1	2	4	4	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:57786825C>T	ENST00000379661.3	+	10	1232	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	280	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				ACCTGGCCATCTGCAATGACC	0.667													3	21					0	0	0	0	T	57786825	C	T	57786825	2	4	127	1	0	0	0	0	0	0	0	1	8040	903	32	2		2	KATNB1	16	57786825	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	812840	57786825	32567928	372	24581											
CDH16	1014	broad.mit.edu	37	chr16	66951592	66951592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accatagttttctggaacttCcacagacagctctgcaggct	10	11	8	12	0	2	1	0	0	2	1	3	2	3	2	2	2	3	4	2	2	2	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr16:66951592C>T	ENST00000299752.4	-	3	275	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.E28K|CDH16_ENST00000565796.1_Missense_Mutation_p.E28K|CDH16_ENST00000568632.1_Missense_Mutation_p.E28K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	28	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCTGGAACTTCCACAGACAGC	0.582													4	22					0	0	0	0	T	66951592	C	T	66951592	3	4	127	1	0	0	0	0	1	0	0	0	3130	864	30	2	2471	2	CDH16	16	66951592	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	9164767	66951592	23403161	373	24582											
FAM57A	79850	broad.mit.edu	37	chr17	644738	644738	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctcgtagctcctcagatCtactggttctgtctgctgtg	4	16	9	12	1	4	1	1	0	3	1	7	1	6	1	2	1	3	4	2	1	2	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:644738C>T	ENST00000308278.8	+	5	938	c.702C>T	c.(700-702)atC>atT	p.I234I	FAM57A_ENST00000301324.8_Silent_p.I202I	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	234	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		CTCCTCAGATCTACTGGTTCT	0.567													6	85					0	0	0	0	T	644738	C	T	644738	2	4	127	1	0	0	0	0	0	0	0	1	5634	903	32	2		2	FAM57A	17	644738	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08		644738	80550472	374	24583											
SPATA22	84690	broad.mit.edu	37	chr17	3346491	3346491	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcataaaagacacaaggcaGagtatttttcccatccctca	14	11	5	11	0	2	2	2	0	0	2	4	2	4	2	2	1	0	2	2	1	4	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:3346491G>C	ENST00000573128.1	-	8	1360	c.877C>G	c.(877-879)Ctg>Gtg	p.L293V	SPATA22_ENST00000397168.3_Missense_Mutation_p.L293V|SPATA22_ENST00000355380.4_Missense_Mutation_p.L250V|SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000541913.1_Missense_Mutation_p.L277V|SPATA22_ENST00000575375.1_Missense_Mutation_p.L293V|SPATA22_ENST00000572969.1_Missense_Mutation_p.L293V			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	293										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						ACACAAGGCAGAGTATTTTTC	0.358													6	57					0	0	0	0	C	3346491	G	C	3346491	3	2	127	1	0	0	0	0	1	0	0	0	15098	933	33	2	222	2	SPATA22	17	3346491	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2701753	3346491	77848719	375	24584											
MINK1	50488	broad.mit.edu	37	chr17	4798511	4798511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtacaagaagcgattcaactCcgagatcctctgtgcagccc	11	8	9	13	2	2	2	1	0	1	2	4	4	4	2	3	0	5	2	3	0	4	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:4798511C>T	ENST00000355280.6	+	25	3255	c.3059C>T	c.(3058-3060)tCc>tTc	p.S1020F	MINK1_ENST00000453408.3_Missense_Mutation_p.S1000F|MINK1_ENST00000347992.7_Missense_Mutation_p.S991F	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1020	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CGATTCAACTCCGAGATCCTC	0.597													6	262					0	0	0	0	T	4798511	C	T	4798511	3	4	127	1	0	0	0	0	1	0	0	0	9656	855	30	2	2924	2	MINK1	17	4798511	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1452020	4798511	76396699	376	24585											
TMEM95	339168	broad.mit.edu	37	chr17	7259784	7259784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctgcttctgggtgttctGagcctcctggtggagtgagt	3	15	14	9	0	2	2	0	2	2	0	4	3	4	3	3	3	2	2	3	3	0	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:7259784G>A	ENST00000389982.4	+	6	557	c.475G>A	c.(475-477)Gag>Aag	p.E159K	TMEM95_ENST00000576060.1_Silent_p.L161L|TMEM95_ENST00000330767.4_Silent_p.L169L			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	0						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				TGGGTGTTCTGAGCCTCCTGG	0.577											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	303					0	0	0	0	A	7259784	G	A	7259784	3	1	127	1	0	0	0	0	1	0	0	0	16317	1277	45	2	529	2	TMEM95	17	7259784	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2461273	7259784	73935426	377	24586											
DNAH2	146754	broad.mit.edu	37	chr17	7663189	7663189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttttccaccatctctgtCttctgccacctccctgacat	5	15	3	18	0	4	1	0	1	4	0	7	1	6	1	5	0	1	0	5	0	0	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:7663189C>T	ENST00000572933.1	+	17	4178	c.2718C>T	c.(2716-2718)gtC>gtT	p.V906V	DNAH2_ENST00000389173.2_Silent_p.V906V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	906	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATCTCTGTCTTCTGCCACC	0.542													14	256					0	0	0	0	T	7663189	C	T	7663189	2	4	127	1	0	0	0	0	0	0	0	1	4639	900	32	2		2	DNAH2	17	7663189	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	403405	7663189	73532021	378	24587											
CHD3	1107	broad.mit.edu	37	chr17	7808456	7808456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggtgggttcagaggaggagGatgaagacttcgatgaacgt	11	8	17	5	3	1	4	1	2	0	2	2	8	1	7	0	5	1	1	0	5	2	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:7808456G>C	ENST00000380358.4	+	26	4289	c.4288G>C	c.(4288-4290)Gat>Cat	p.D1430H	CHD3_ENST00000358181.4_Missense_Mutation_p.D1371H|CHD3_ENST00000330494.7_Missense_Mutation_p.D1371H	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1371					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGAGGAGGAGGATGAAGACTT	0.537													4	93					0	0	0	0	C	7808456	G	C	7808456	3	2	127	1	0	0	0	0	1	0	0	0	3355	1174	41	2	4494	2	CHD3	17	7808456	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	145267	7808456	73386754	379	24588											
MYH2	4620	broad.mit.edu	37	chr17	10428364	10428364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcgcaggatctttccctCttcatgttcaagagatgcct	8	13	9	11	1	4	1	2	0	2	1	5	4	5	2	2	1	2	2	2	1	1	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:10428364C>T	ENST00000245503.5	-	34	5065	c.4681G>A	c.(4681-4683)Gag>Aag	p.E1561K	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1561K|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1561					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATCTTTCCCTCTTCATGTTCA	0.408													15	215					0	0	0	0	T	10428364	C	T	10428364	3	4	127	1	0	0	0	0	1	0	0	0	10105	922	32	2	1172	2	MYH2	17	10428364	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2619908	10428364	70766846	380	24589											
CENPV	201161	broad.mit.edu	37	chr17	16247996	16247996	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgggctttgtgagtattGaacgtgtaagtcgttatgtg	7	16	14	4	2	0	2	0	2	0	0	1	2	0	2	0	1	2	5	0	1	4	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:16247996G>A	ENST00000476243.1	-	4	1276	c.147C>T	c.(145-147)ttC>ttT	p.F49F	PIGL_ENST00000581006.1_Intron|CENPV_ENST00000299736.4_Silent_p.F203F			Q7Z7K6	CENPV_HUMAN	centromere protein V	206					cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization	condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone	carbon-sulfur lyase activity			endometrium(1)|large_intestine(2)	3						TGTGAGTATTGAACGTGTAAG	0.388													5	144					0	0	0	0	A	16247996	G	A	16247996	2	1	127	1	0	0	0	0	0	0	0	1	3272	1281	45	2		2	CENPV	17	16247996	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	5819632	16247996	64947214	381	24590											
ATAD5	79915	broad.mit.edu	37	chr17	29220954	29220954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtgatgagtttagtcttGagagtaatgatggatggact	10	16	13	2	0	1	4	0	4	1	1	1	7	1	6	0	2	0	2	0	2	2	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:29220954G>C	ENST00000321990.4	+	21	5461	c.5083G>C	c.(5083-5085)Gag>Cag	p.E1695Q		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1695					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GTTTAGTCTTGAGAGTAATGA	0.368													5	111					0	0	0	0	C	29220954	G	C	29220954	3	2	127	1	0	0	0	0	1	0	0	0	1080	1291	45	2	5165	2	ATAD5	17	29220954	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	12972958	29220954	51974256	382	24591											
MYO1D	4642	broad.mit.edu	37	chr17	31082662	31082662	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgaggtcaacaatgatctGattgttgaagtagtcaatct	13	12	9	7	1	4	3	2	3	2	0	4	4	4	3	0	1	1	2	0	1	5	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:31082662G>C	ENST00000318217.5	-	11	1619	c.1315C>G	c.(1315-1317)Cag>Gag	p.Q439E	MYO1D_ENST00000394649.4_Missense_Mutation_p.Q351E|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000579584.1_Missense_Mutation_p.Q439E	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	439	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACAATGATCTGATTGTTGAAG	0.453													4	45					0	0	0	0	C	31082662	G	C	31082662	3	2	127	1	0	0	0	0	1	0	0	0	10141	1299	45	2	1753	2	MYO1D	17	31082662	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1861708	31082662	50112548	383	24592											
LYZL6	57151	broad.mit.edu	37	chr17	34266358	34266358	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatgagtagcgcctttgtCatccttggaggggaggaggt	8	11	16	6	1	1	2	1	1	0	1	2	5	2	5	2	5	1	1	2	5	2	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:34266358C>T	ENST00000585556.1	-	2	337	c.3G>A	c.(1-3)atG>atA	p.M1I	LYZL6_ENST00000293274.4_Start_Codon_SNP_p.M1I|LYZL6_ENST00000394523.3_Start_Codon_SNP_p.M1I			O75951	LYZL6_HUMAN	lysozyme-like 6	1					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCGCCTTTGTCATCCTTGGAG	0.557													6	147					0	0	0	0	T	34266358	C	T	34266358	1	4	127	1	0	0	0	0	0	0	0	0	9199	826	29	2		2	LYZL6	17	34266358	Translation_Start_Site	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3183696	34266358	46928852	384	24593											
GPR179	440435	broad.mit.edu	37	chr17	36486420	36486420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgctctggccctgaggggCcttcctggggcacattttct	3	12	12	14	1	2	1	0	1	2	0	4	1	3	1	3	5	0	2	3	5	0	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:36486420C>T	ENST00000342292.4	-	11	3052	c.3032G>A	c.(3031-3033)gGc>gAc	p.G1011D		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1011						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCCTGAGGGGCCTTCCTGGGG	0.622													9	63					0	0	0	0	T	36486420	C	T	36486420	3	4	127	1	0	0	0	0	1	0	0	0	6723	739	26	4	4075	4	GPR179	17	36486420	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2220062	36486420	44708790	385	24594											
TOP2A	7153	broad.mit.edu	37	chr17	38573102	38573102	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacagtcttttcttagcatCttcatttttctttattttgt	7	23	4	7	0	5	1	1	0	4	1	5	1	5	1	0	0	1	1	0	0	2	10			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:38573102C>G	ENST00000423485.1	-	2	225	c.67G>C	c.(67-69)Gat>Cat	p.D23H		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	23					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTCTTAGCATCTTCATTTTTC	0.318													5	84					0	0	0	0	G	38573102	C	G	38573102	3	3	127	1	0	0	0	0	1	0	0	0	16460	913	32	2	4664	2	TOP2A	17	38573102	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2086682	38573102	42622108	386	24595											
SMARCE1	6605	broad.mit.edu	37	chr17	38788614	38788614	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcattgaaaagccatcatCataatctggagtgaacaaat	16	11	6	8	0	4	2	3	2	1	0	4	3	4	3	1	1	2	0	1	1	5	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:38788614C>G	ENST00000348513.6	-	8	1327	c.547G>C	c.(547-549)Gat>Cat	p.D183H	SMARCE1_ENST00000578044.1_Missense_Mutation_p.D113H|SMARCE1_ENST00000580419.1_Missense_Mutation_p.D148H|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000544009.1_Missense_Mutation_p.D113H|SMARCE1_ENST00000431889.2_Missense_Mutation_p.D165H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.D113H|SMARCE1_ENST00000377808.4_Missense_Mutation_p.D148H	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	183					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				AAGCCATCATCATAATCTGGA	0.438													5	63					0	0	0	0	G	38788614	C	G	38788614	3	3	127	1	0	0	0	0	1	0	0	0	14868	826	29	2	704	2	SMARCE1	17	38788614	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	215512	38788614	42406596	387	24596											
KRT27	342574	broad.mit.edu	37	chr17	38936044	38936044	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcagcagaaccgtgaggtCtaccccgggggccgcgttca	7	7	14	13	4	3	2	2	1	1	1	3	2	3	2	4	3	3	3	4	3	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:38936044C>G	ENST00000301656.3	-	4	794	c.754G>C	c.(754-756)Gac>Cac	p.D252H		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	252	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ACCGTGAGGTCTACCCCGGGG	0.537													4	60					0	0	0	0	G	38936044	C	G	38936044	3	3	127	1	0	0	0	0	1	0	0	0	8516	913	32	2	645	2	KRT27	17	38936044	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	147430	38936044	42259166	388	24597											
KRT9	3857	broad.mit.edu	37	chr17	39724518	39724518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattcctgattctggcactcGatctcttgccggacgtcagt	6	14	9	12	3	3	1	1	1	2	0	6	3	4	2	2	2	1	1	2	2	1	4	rs145501803	byFrequency	TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:39724518G>A	ENST00000246662.4	-	6	1355	c.1290C>T	c.(1288-1290)atC>atT	p.I430I	KRT9_ENST00000588431.1_Silent_p.I197I	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	430	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TCTGGCACTCGATCTCTTGCC	0.542													5	91					0	0	0	0	A	39724518	G	A	39724518	2	1	127	1	0	0	0	0	0	0	0	1	8553	1048	37	1		1	KRT9	17	39724518	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	788474	39724518	41470692	389	24598											
KLHL11	55175	broad.mit.edu	37	chr17	40010360	40010360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcaagctttcaaggatctCatcagacacttggctggcaa	12	9	10	10	0	3	1	3	0	1	1	4	2	3	2	0	4	1	4	0	4	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:40010360C>T	ENST00000319121.3	-	2	1819	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	587						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TCAAGGATCTCATCAGACACT	0.408													8	146					0	0	0	0	T	40010360	C	T	40010360	3	4	127	1	0	0	0	0	1	0	0	0	8419	835	29	2	371	2	KLHL11	17	40010360	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	285842	40010360	41184850	390	24599											
BRCA1	672	broad.mit.edu	37	chr17	41249303	41249303	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggtatcttcagaagaatcaGatcctaaaaaatttcccccc	14	10	5	12	1	3	3	2	0	1	3	5	3	5	3	4	1	0	1	4	1	6	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:41249303G>C	ENST00000309486.4	-	0	690				BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.S184C|BRCA1_ENST00000468300.1_Missense_Mutation_p.S184C|BRCA1_ENST00000471181.2_Missense_Mutation_p.S184C|BRCA1_ENST00000346315.3_Missense_Mutation_p.S184C|BRCA1_ENST00000493795.1_Missense_Mutation_p.S137C|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.S184C|BRCA1_ENST00000357654.3_Missense_Mutation_p.S184C|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.S184C	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset						androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGAAGAATCAGATCCTAAAAA	0.284			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			7	143					0	0	0	0	C	41249303	G	C	41249303	1	2	127	1	0	0	0	0	0	0	0	0	1506	942	33	2		2	BRCA1	17	41249303	Translation_Start_Site	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1238943	41249303	39945907	391	24600											
GFAP	2670	broad.mit.edu	37	chr17	42987581	42987581	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgtattgtgaggcttttgaGatatcttgtgaccttgtgat	7	18	11	5	1	1	4	0	4	1	1	2	5	1	4	1	1	0	2	1	1	2	7			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:42987581G>C	ENST00000435360.2	-	8	1226	c.1219C>G	c.(1219-1221)Ctc>Gtc	p.L407V	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000253408.5_Intron	NM_001131019.2|NM_001242376.1	NP_001124491.1|NP_001229305.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	405	Tail.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				AGGCTTTTGAGATATCTTGTG	0.483													10	178					0	0	0	0	C	42987581	G	C	42987581	3	2	127	1	0	0	0	0	1	0	0	0	6388	942	33	2	216	2	GFAP	17	42987581	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1738278	42987581	38207629	392	24601											
NFE2L1	4779	broad.mit.edu	37	chr17	46128846	46128846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcagcccaactcaggcctCgccctcgagagttccagtgg	8	7	11	15	2	2	1	2	0	0	1	5	2	3	1	4	2	2	1	4	2	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:46128846C>T	ENST00000362042.3	+	2	982	c.366C>T	c.(364-366)ctC>ctT	p.L122L	NFE2L1_ENST00000357480.5_Silent_p.L122L|NFE2L1_ENST00000585291.1_Silent_p.L122L|NFE2L1_ENST00000361665.3_Silent_p.L122L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	122					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTCAGGCCTCGCCCTCGAGA	0.592													4	87					0	0	0	0	T	46128846	C	T	46128846	2	4	127	1	0	0	0	0	0	0	0	1	10437	871	31	1		1	NFE2L1	17	46128846	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3141265	46128846	35066364	393	24602											
HOXB1	3211	broad.mit.edu	37	chr17	46607143	46607143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccggctcaggtacttgttGaaatggaactccttttccag	8	12	10	11	1	1	1	1	1	0	0	3	2	3	2	3	3	2	3	3	3	3	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:46607143G>A	ENST00000239174.6	-	2	764	c.672C>T	c.(670-672)ttC>ttT	p.F224F	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	224						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTACTTGTTGAAATGGAACT	0.577													11	203					0	0	0	0	A	46607143	G	A	46607143	2	1	127	1	0	0	0	0	0	0	0	1	7349	1281	45	2		2	HOXB1	17	46607143	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	478297	46607143	34588067	394	24603											
HOXB3	3213	broad.mit.edu	37	chr17	46629701	46629701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagctgagcgctggtagtCgccctccaggtgcgtggcgg	5	7	17	12	4	0	1	0	1	0	0	2	1	1	1	2	4	3	4	2	4	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:46629701C>T	ENST00000470495.1	-	1	1583	c.136G>A	c.(136-138)Gac>Aac	p.D46N	HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.D46N|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000498678.1_Missense_Mutation_p.D46N|HOXB3_ENST00000476342.1_Missense_Mutation_p.D46N|HOXB3_ENST00000472863.1_5'UTR|HOXB3_ENST00000489475.1_5'UTR|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	46					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CGCTGGTAGTCGCCCTCCAGG	0.647													4	51					0	0	0	0	T	46629701	C	T	46629701	3	4	127	1	0	0	0	0	1	0	0	0	7352	884	31	1	1167	1	HOXB3	17	46629701	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	22558	46629701	34565509	395	24604											
MSI2	124540	broad.mit.edu	37	chr17	55339539	55339539	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaagttgcatttcctcgtCgagcgcaacccaaggtaagt	11	9	9	12	3	0	0	0	0	0	0	3	1	1	0	3	1	3	4	3	1	4	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:55339539C>T	ENST00000284073.2	+	5	507	c.298C>T	c.(298-300)Cga>Tga	p.R100*	MSI2_ENST00000322684.3_Nonsense_Mutation_p.R96*|MSI2_ENST00000416426.2_Nonsense_Mutation_p.R78*	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	100	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		ATTTCCTCGTCGAGCGCAACC	0.358			T	HOXA9	CML								10	126					0	0	0	0	T	55339539	C	T	55339539	4	4	127	1	0	0	0	0	0	1	0	0	9946	876	31	1	366	1	MSI2	17	55339539	Nonsense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	8709838	55339539	25855671	396	24605											
RNF43	54894	broad.mit.edu	37	chr17	56492888	56492888	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgcctgcagggtagccatCagcagccagggccagagggc	8	4	15	14	0	1	1	1	0	0	1	1	1	1	1	5	3	5	3	5	3	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:56492888C>T	ENST00000584437.1	-	1	2006	c.51G>A	c.(49-51)ctG>ctA	p.L17L	RNF43_ENST00000577716.1_Silent_p.L17L|RNF43_ENST00000500597.2_Silent_p.L17L|RNF43_ENST00000407977.2_Silent_p.L17L|RNF43_ENST00000583753.1_Silent_p.L17L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43	17						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGTAGCCATCAGCAGCCAGG	0.562													10	73					0	0	0	0	T	56492888	C	T	56492888	2	4	127	1	0	0	0	0	0	0	0	1	13580	813	29	2		2	RNF43	17	56492888	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1153349	56492888	24702322	397	24606											
MAP3K3	4215	broad.mit.edu	37	chr17	61767679	61767679	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctgggccagggtgccttCggcagggtctatttgtgcta	4	12	14	11	1	1	0	0	0	1	0	3	0	2	0	3	4	2	2	3	4	2	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:61767679C>T	ENST00000361357.3	+	13	1530	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	MAP3K3_ENST00000361733.3_Silent_p.F373F|MAP3K3_ENST00000584573.1_Silent_p.F400F|MAP3K3_ENST00000579585.1_Silent_p.F404F|MAP3K3_ENST00000577395.1_Silent_p.F369F	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	373	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGGGTGCCTTCGGCAGGGTCT	0.527													11	117					0	0	0	0	T	61767679	C	T	61767679	2	4	127	1	0	0	0	0	0	0	0	1	9320	883	31	1		1	MAP3K3	17	61767679	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	5274791	61767679	19427531	398	24607											
GRIN2C	2905	broad.mit.edu	37	chr17	72842377	72842377	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacagcagcatcatagatGaaggcatccagcttcctggg	12	7	12	10	0	1	2	1	1	0	1	3	3	3	3	2	3	3	4	2	3	2	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:72842377G>A	ENST00000293190.5	-	11	2324	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	GRIN2C_ENST00000347612.4_Silent_p.F726F	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	726					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CATCATAGATGAAGGCATCCA	0.582													5	79					0	0	0	0	A	72842377	G	A	72842377	2	1	127	1	0	0	0	0	0	0	0	1	6831	1281	45	2		2	GRIN2C	17	72842377	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	11074698	72842377	8352833	399	24608											
ARMC7	79637	broad.mit.edu	37	chr17	73106605	73106605	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgccaacttcgcttatgacCccagcaactacgagtatctg	10	10	7	14	3	1	1	0	1	1	0	3	2	1	1	3	0	4	3	3	0	5	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:73106605C>A	ENST00000245543.1	+	2	441	c.139C>A	c.(139-141)Ccc>Acc	p.P47T	ARMC7_ENST00000581078.1_Missense_Mutation_p.P47T|ARMC7_ENST00000584947.1_Missense_Mutation_p.P47T|ARMC7_ENST00000582136.1_Missense_Mutation_p.P47T	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	47							binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CGCTTATGACCCCAGCAACTA	0.577													7	96					0.000157383	0.000160051	1	0	A	73106605	C	A	73106605	3	1	127	1	0	0	0	0	1	0	0	0	960	623	22	4	145	4	ARMC7	17	73106605	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	264228	73106605	8088605	400	24609											
CASKIN2	57513	broad.mit.edu	37	chr17	73498870	73498870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggggccgggctagagggtGagccctgggggtacataaaa	9	6	18	8	1	0	2	0	1	0	1	0	2	0	2	2	6	2	2	2	6	4	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:73498870G>A	ENST00000321617.3	-	18	2871	c.2285C>T	c.(2284-2286)tCa>tTa	p.S762L	CASKIN2_ENST00000433559.2_Missense_Mutation_p.S680L	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	762	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTAGAGGGTGAGCCCTGGGG	0.657													4	69					0	0	0	0	A	73498870	G	A	73498870	3	1	127	1	0	0	0	0	1	0	0	0	2692	1294	45	2	1335	2	CASKIN2	17	73498870	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	392265	73498870	7696340	401	24610											
RNF213	57674	broad.mit.edu	37	chr17	78363062	78363062	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctgtctgtcgtagaagtCactctggggtttctgagcac	6	13	13	9	1	4	2	1	1	3	1	5	2	4	2	0	2	2	4	0	2	2	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:78363062C>G	ENST00000582970.1	+	65	15233	c.15090C>G	c.(15088-15090)gtC>gtG	p.V5030V	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000508628.2_Silent_p.V5079V|RNF213_ENST00000336301.6_Silent_p.V3103V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCGTAGAAGTCACTCTGGGGT	0.522													6	99					0	0	0	0	G	78363062	C	G	78363062	2	3	127	1	0	0	0	0	0	0	0	1	13562	813	29	2		2	RNF213	17	78363062	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	4864192	78363062	2832148	402	24611											
NPTX1	4884	broad.mit.edu	37	chr17	78447056	78447056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccactcaatgaggaccagctCgttggcctggccgggcacag	8	6	13	14	2	1	1	1	1	0	0	2	2	1	2	4	4	1	3	4	4	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:78447056C>G	ENST00000306773.4	-	3	998	c.841G>C	c.(841-843)Gag>Cag	p.E281Q		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	281	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			AGGACCAGCTCGTTGGCCTGG	0.642													8	115					0	0	0	0	G	78447056	C	G	78447056	3	3	127	1	0	0	0	0	1	0	0	0	10673	893	31	3	469	3	NPTX1	17	78447056	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	83994	78447056	2748154	403	24612											
SLC25A10	1468	broad.mit.edu	37	chr17	79674211	79674211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagccaatgtcgccaaagctGaggcggagaagatcaaggcg	14	4	14	9	3	1	3	1	1	0	2	2	4	1	3	2	3	2	1	2	3	5	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr17:79674211G>A	ENST00000571730.1	+	5	669	c.538G>A	c.(538-540)Gag>Aag	p.E180K	SLC25A10_ENST00000541223.1_Missense_Mutation_p.E180K|MRPL12_ENST00000333676.3_Missense_Mutation_p.E180K			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CGCCAAAGCTGAGGCGGAGAA	0.642													6	114					0	0	0	0	A	79674211	G	A	79674211	3	1	127	1	0	0	0	0	1	0	0	0	14560	1291	45	2		2	SLC25A10	17	79674211	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1227155	79674211	1520999	404	24613											
DLGAP1	9229	broad.mit.edu	37	chr18	3879988	3879988	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtagggcttgcggtcGgagtggtgcgacagcgagtc	7	7	19	8	4	0	0	0	0	0	0	2	3	0	1	0	5	4	3	0	5	1	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:3879988G>A	ENST00000315677.3	-	4	676	c.81C>T	c.(79-81)tcC>tcT	p.S27S	DLGAP1_ENST00000515196.2_Silent_p.S27S|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Silent_p.S27S|DLGAP1_ENST00000584874.1_Silent_p.S27S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	27					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCTTGCGGTCGGAGTGGTGCG	0.667													10	70					0	0	0	0	A	3879988	G	A	3879988	2	1	127	1	0	0	0	0	0	0	0	1	4596	1103	39	1		1	DLGAP1	18	3879988	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08		3879988	74197260	405	24614											
L3MBTL4	91133	broad.mit.edu	37	chr18	6239847	6239847	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccagcttcattccaacctGaaattctttagacattggcc	10	13	5	13	0	2	2	1	1	1	1	4	2	4	2	4	1	2	1	4	1	3	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:6239847G>A	ENST00000400104.3	-	9	777	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	L3MBTL4_ENST00000535782.1_Nonsense_Mutation_p.Q6*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000284898.6_Nonsense_Mutation_p.Q193*			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	193					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ATTCCAACCTGAAATTCTTTA	0.468													4	65					0	0	0	0	A	6239847	G	A	6239847	4	1	127	1	0	0	0	0	0	1	0	0	8647	1299	45	2	1342	2	L3MBTL4	18	6239847	Nonsense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2359859	6239847	71837401	406	24615											
ANKRD12	23253	broad.mit.edu	37	chr18	9254483	9254483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaaacaggagaaagccttCtatcctaaatcatttaaaag	18	9	6	8	0	2	1	1	0	1	1	3	2	3	1	2	1	2	1	2	1	8	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:9254483C>T	ENST00000383440.2	+	8	1406	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	ANKRD12_ENST00000400020.3_Silent_p.F383F|ANKRD12_ENST00000262126.3_Silent_p.F406F	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	406						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGAAAGCCTTCTATCCTAAAT	0.308													8	129					0	0	0	0	T	9254483	C	T	9254483	2	4	127	1	0	0	0	0	0	0	0	1	640	912	32	2		2	ANKRD12	18	9254483	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3014636	9254483	68822765	407	24616											
TUBB6	84617	broad.mit.edu	37	chr18	12325401	12325401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacctactgcatcgacaacGaggcgctctatgacatctgc	11	8	9	13	3	2	2	0	1	2	1	3	4	2	2	1	1	4	2	1	1	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:12325401G>A	ENST00000317702.5	+	4	847	c.613G>A	c.(613-615)Gag>Aag	p.E205K	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	205					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CATCGACAACGAGGCGCTCTA	0.602													4	163					0	0	0	0	A	12325401	G	A	12325401	3	1	127	1	0	0	0	0	1	0	0	0	16856	1059	37	1	627	1	TUBB6	18	12325401	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3070918	12325401	65751847	408	24617											
RNF165	494470	broad.mit.edu	37	chr18	44015328	44015328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggccaactgcagacacctCagcccaggtatttggctgag	9	8	11	13	1	1	2	1	1	0	1	2	2	1	2	3	3	3	3	3	3	2	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:44015328C>G	ENST00000269439.7	+	3	505	c.454C>G	c.(454-456)Cag>Gag	p.Q152E	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	152							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCAGACACCTCAGCCCAGGTA	0.627													4	58					0	0	0	0	G	44015328	C	G	44015328	3	3	127	1	0	0	0	0	1	0	0	0	13541	827	29	2	464	2	RNF165	18	44015328	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	31689927	44015328	34061920	409	24618											
SMAD2	4087	broad.mit.edu	37	chr18	45368239	45368239	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgaaggggatcccatctGagttaatactttgtccaacc	11	11	8	11	0	1	2	0	2	1	0	3	3	3	3	3	2	2	1	3	2	4	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:45368239G>A	ENST00000402690.2	-	11	1757	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	SMAD2_ENST00000262160.6_Nonsense_Mutation_p.Q455*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.Q425*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.Q425*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	455	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GATCCCATCTGAGTTAATACT	0.413													6	72					0	0	0	0	A	45368239	G	A	45368239	4	1	127	1	0	0	0	0	0	1	0	0	14846	1299	45	2	44	2	SMAD2	18	45368239	Nonsense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1352911	45368239	32709009	410	24619											
SMAD4	4089	broad.mit.edu	37	chr18	48591940	48591940	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttttgtttgggtcaactctCcaatgtccacaggacagaag	10	12	9	10	0	2	1	1	0	1	1	4	2	3	2	2	2	1	1	2	2	3	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:48591940C>G	ENST00000342988.3	+	9	1641	c.1103C>G	c.(1102-1104)tCc>tGc	p.S368C	SMAD4_ENST00000588745.1_Missense_Mutation_p.S272C|SMAD4_ENST00000398417.2_Missense_Mutation_p.S368C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	368	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGTCAACTCTCCAATGTCCAC	0.403													5	83					0	0	0	0	G	48591940	C	G	48591940	3	3	127	1	0	0	0	0	1	0	0	0	14848	855	30	2	1133	2	SMAD4	18	48591940	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3223701	48591940	29485308	411	24620											
C18orf54	162681	broad.mit.edu	37	chr18	51887043	51887043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtagtaattcctctaattCtgatggctcgtttcactata	9	17	7	8	1	3	1	1	1	2	0	5	1	4	1	1	2	0	4	1	2	5	8			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:51887043C>T	ENST00000300091.5	+	2	433	c.101C>T	c.(100-102)tCt>tTt	p.S34F	C18orf54_ENST00000578138.1_Intron|C18orf54_ENST00000382911.4_Missense_Mutation_p.S34F	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	34						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TCCTCTAATTCTGATGGCTCG	0.408													10	139					0	0	0	0	T	51887043	C	T	51887043	3	4	127	1	0	0	0	0	1	0	0	0	1921	913	32	2	103	2	C18orf54	18	51887043	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3295103	51887043	26190205	412	24621											
ZNF236	7776	broad.mit.edu	37	chr18	74631794	74631794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcacggaagtctcgtcctGaggtcatcactttcacggag	9	10	10	12	3	5	1	4	1	1	0	7	3	6	3	1	3	0	0	1	3	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:74631794G>A	ENST00000253159.8	+	20	3529	c.3331G>A	c.(3331-3333)Gag>Aag	p.E1111K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E1113K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1111					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTCTCGTCCTGAGGTCATCAC	0.517													11	163					0	0	0	0	A	74631794	G	A	74631794	3	1	127	1	0	0	0	0	1	0	0	0	17884	1291	45	2	3409	2	ZNF236	18	74631794	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	22744751	74631794	3445454	413	24622											
GALR1	2587	broad.mit.edu	37	chr18	74963085	74963085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagcagtggcccgaccCtcgccacaagaaggcctacg	9	4	13	15	3	0	1	0	0	0	1	1	3	0	2	4	3	2	1	4	3	3	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:74963085C>T	ENST00000299727.3	+	1	581	c.581C>T	c.(580-582)cCt>cTt	p.P194L		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	194					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.P194N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TGGCCCGACCCTCGCCACAAG	0.662													6	131					0	0	0	0	T	74963085	C	T	74963085	3	4	127	1	0	0	0	0	1	0	0	0	6276	681	24	4	583	4	GALR1	18	74963085	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	331291	74963085	3114163	414	24623											
ADNP2	22850	broad.mit.edu	37	chr18	77895633	77895633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgttctgtccatgcaccttCcatgatatcaaaggtctttc	8	16	6	11	0	3	1	1	1	2	0	6	1	5	1	3	1	1	2	3	1	2	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr18:77895633C>T	ENST00000262198.4	+	4	2792	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	779					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CATGCACCTTCCATGATATCA	0.473													11	150					0	0	0	0	T	77895633	C	T	77895633	2	4	127	1	0	0	0	0	0	0	0	1	324	854	30	2		2	ADNP2	18	77895633	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2932548	77895633	181615	415	24624											
MED16	10025	broad.mit.edu	37	chr19	880111	880111	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagtgagagccggtgcacGatgtggacgctgccgtcgtg	6	8	17	10	5	0	1	0	1	0	1	1	4	0	2	2	2	4	3	2	2	0	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:880111G>A	ENST00000312090.6	-	8	1329	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	MED16_ENST00000395808.3_Silent_p.I393I|MED16_ENST00000589119.1_Silent_p.I393I|MED16_ENST00000269814.4_Silent_p.I393I|MED16_ENST00000606828.1_Intron|MED16_ENST00000325464.1_Silent_p.I393I			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	393					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		GCCGGTGCACGATGTGGACGC	0.721													3	22					0	0	0	0	A	880111	G	A	880111	2	1	127	1	0	0	0	0	0	0	0	1	9503	1048	37	1		1	MED16	19	880111	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08		880111	58248872	416	24625											
C3	718	broad.mit.edu	37	chr19	6694573	6694573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttctgttccccgcagcccGagggggtcacaatgaggtgc	6	9	14	12	2	2	1	1	1	1	0	3	2	3	1	3	3	2	3	3	3	1	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:6694573G>A	ENST00000245907.6	-	24	3115	c.3023C>T	c.(3022-3024)tCg>tTg	p.S1008L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1008					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCCGCAGCCCGAGGGGGTCAC	0.607													7	77					0	0	0	0	A	6694573	G	A	6694573	3	1	127	1	0	0	0	0	1	0	0	0	2224	1059	37	1	2040	1	C3	19	6694573	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	5814462	6694573	52434410	417	24626											
CD209	30835	broad.mit.edu	37	chr19	7812249	7812249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggcctctcagctgttcctCctctgaatggatagacgtga	9	11	10	11	1	2	3	1	2	2	1	5	4	4	4	3	2	1	2	3	2	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:7812249C>T	ENST00000315599.7	-	2	71	c.49G>A	c.(49-51)Gag>Aag	p.E17K	CD209_ENST00000602261.1_Missense_Mutation_p.E17K|CD209_ENST00000593821.1_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.E17K|CD209_ENST00000315591.8_Missense_Mutation_p.E17K|CD209_ENST00000593660.1_Missense_Mutation_p.E17K|CD209_ENST00000204801.8_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.E17K|CD209_ENST00000601256.1_Missense_Mutation_p.E17K|CD209_ENST00000301357.8_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.E17K|CD209_ENST00000394161.5_Missense_Mutation_p.E17K	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	17					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCTGTTCCTCCTCTGAATGG	0.572													22	366					0	0	0	0	T	7812249	C	T	7812249	3	4	127	1	0	0	0	0	1	0	0	0	3013	864	30	2	1189	2	CD209	19	7812249	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1117676	7812249	51316734	418	24627											
CD209	30835	broad.mit.edu	37	chr19	7812273	7812273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaatggatagacgtgaaatCagagcctgggcaggctgagg	12	7	16	6	1	1	5	1	3	0	2	1	6	1	6	1	4	1	2	1	4	3	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:7812273C>T	ENST00000593660.1	-	1	124	c.25G>A	c.(25-27)Gat>Aat	p.D9N	CD209_ENST00000602261.1_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000315599.7_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.D9N|CD209_ENST00000315591.8_Intron|CD209_ENST00000204801.8_Intron|CD209_ENST00000354397.6_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.D9N|CD209_ENST00000301357.8_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron			Q9NNX6	CD209_HUMAN	CD209 molecule	0					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GACGTGAAATCAGAGCCTGGG	0.587													19	333					0	0	0	0	T	7812273	C	T	7812273	3	4	127	1	0	0	0	0	1	0	0	0	3013	841	29	2		2	CD209	19	7812273	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	24	7812273	51316710	419	24628											
ADAMTS10	81794	broad.mit.edu	37	chr19	8656945	8656945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggctccgtccacaccctCtgggcgcgacccaaagggga	8	4	12	17	3	1	0	0	0	1	0	3	2	3	1	5	4	0	1	5	4	1	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:8656945C>T	ENST00000270328.4	-	13	1896	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E544K|ADAMTS10_ENST00000595838.1_Silent_p.Q34Q			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	544	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCACACCCTCTGGGCGCGAC	0.687													4	56					0	0	0	0	T	8656945	C	T	8656945	3	4	127	1	0	0	0	0	1	0	0	0	256	922	32	2	1733	2	ADAMTS10	19	8656945	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	844672	8656945	50472038	420	24629											
MUC16	94025	broad.mit.edu	37	chr19	9009320	9009320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggccgacactggagttcttGaacaagggaccaagctgtgg	10	7	15	9	1	1	1	0	1	1	0	1	4	1	3	2	4	2	2	2	4	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:9009320G>C	ENST00000397910.4	-	40	39356	c.39153C>G	c.(39151-39153)ttC>ttG	p.F13051L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13053	SEA 7.				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						TGGAGTTCTTGAACAAGGGAC	0.532													10	115					0	0	0	0	C	9009320	G	C	9009320	3	2	127	1	0	0	0	0	1	0	0	0	10043	1281	45	2	4550	2	MUC16	19	9009320	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	352375	9009320	50119663	421	24630											
MUC16	94025	broad.mit.edu	37	chr19	9011002	9011002	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacagagctccgatgggtGaaacctgcatagagaaggag	13	5	14	9	1	0	3	0	1	0	2	1	6	1	4	3	2	3	2	3	2	3	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:9011002G>A	ENST00000397910.4	-	37	39119	c.38916C>T	c.(38914-38916)ttC>ttT	p.F12972F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12974					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						TCCGATGGGTGAAACCTGCAT	0.542													10	164					0	0	0	0	A	9011002	G	A	9011002	2	1	127	1	0	0	0	0	0	0	0	1	10043	1281	45	2		2	MUC16	19	9011002	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1682	9011002	50117981	422	24631											
DNMT1	1786	broad.mit.edu	37	chr19	10257139	10257139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atccaggtcctcgagctgctCcaggaccctggggatttctt	6	11	11	13	1	1	0	0	0	1	0	5	3	4	2	4	4	2	2	4	4	0	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:10257139C>G	ENST00000340748.4	-	27	2969	c.2734G>C	c.(2734-2736)Gag>Cag	p.E912Q	DNMT1_ENST00000540357.1_Missense_Mutation_p.E912Q|DNMT1_ENST00000359526.4_Missense_Mutation_p.E928Q			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	912					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCGAGCTGCTCCAGGACCCTG	0.562													5	101					0	0	0	0	G	10257139	C	G	10257139	3	3	127	1	0	0	0	0	1	0	0	0	4711	864	30	2	2172	2	DNMT1	19	10257139	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1246137	10257139	48871844	423	24632											
DNMT1	1786	broad.mit.edu	37	chr19	10257201	10257201	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcacagctcacacagaatCtgaaggaaacaaagggacag	17	3	12	9	0	2	2	1	1	1	1	2	4	2	4	0	3	2	2	0	3	4	0	rs9676676		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:10257201C>G	ENST00000340748.4	-	27	2908		c.e27-1		DNMT1_ENST00000540357.1_Splice_Site|DNMT1_ENST00000359526.4_Splice_Site			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1						chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CACACAGAATCTGAAGGAAAC	0.562													5	90					0	0	0	0	G	10257201	C	G	10257201	5	3	127	1	0	0	0	0	0	0	1	0	4711	927	32	2	2234	2	DNMT1	19	10257201	Splice_Site	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	62	10257201	48871782	424	24633											
ZNF441	126068	broad.mit.edu	37	chr19	11891591	11891591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatatgtggaaaaggctttCtttctcccagttcagttcga	10	14	9	8	1	3	1	1	0	2	1	5	3	3	2	1	2	0	3	1	2	3	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:11891591C>T	ENST00000357901.4	+	4	1054	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	ZNF441_ENST00000454339.2_Missense_Mutation_p.L251F	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAAAGGCTTTCTTTCTCCCAG	0.398													6	169					0	0	0	0	T	11891591	C	T	11891591	3	4	127	1	0	0	0	0	1	0	0	0	18009	913	32	2	966	2	ZNF441	19	11891591	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1634390	11891591	47237392	425	24634											
HOOK2	29911	broad.mit.edu	37	chr19	12874125	12874125	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcagtggggcgaaggttcaGagatgccaggcgtcccaagg	9	6	17	9	2	2	1	2	0	0	1	3	3	3	1	2	5	1	1	2	5	2	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:12874125G>A	ENST00000264827.5	-	22	2295	c.2125C>T	c.(2125-2127)Ctg>Ttg	p.L709L	HOOK2_ENST00000397668.3_Silent_p.L711L	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	711	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CGAAGGTTCAGAGATGCCAGG	0.647													6	65					0	0	0	0	A	12874125	G	A	12874125	2	1	127	1	0	0	0	0	0	0	0	1	7333	933	33	2		2	HOOK2	19	12874125	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	982534	12874125	46254858	426	24635											
CPAMD8	27151	broad.mit.edu	37	chr19	17057938	17057938	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaacgacccagatgggctCagcctccccgggggccacac	9	3	12	17	2	1	2	1	0	0	2	2	3	2	2	5	3	2	1	5	3	1	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:17057938C>G	ENST00000443236.1	-	21	2780	c.2749G>C	c.(2749-2751)Gag>Cag	p.E917Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	870						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGATGGGCTCAGCCTCCCCG	0.597													9	235					0	0	0	0	G	17057938	C	G	17057938	3	3	127	1	0	0	0	0	1	0	0	0	3825	835	29	2	3137	2	CPAMD8	19	17057938	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	4183813	17057938	42071045	427	24636											
ZNF429	353088	broad.mit.edu	37	chr19	21719223	21719223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctataaaactgtaggtgattGtaagctatacaaaggaggtt	15	12	10	4	0	0	1	0	1	0	0	0	2	0	2	0	3	3	4	0	3	8	8			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:21719223G>A	ENST00000358491.4	+	4	576	c.368G>A	c.(367-369)tGt>tAt	p.C123Y	ZNF429_ENST00000597078.1_Intron|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GTAGGTGATTGTAAGCTATAC	0.328													7	92					0	0	0	0	A	21719223	G	A	21719223	3	1	127	1	0	0	0	0	1	0	0	0	17997	1377	48	4	382	4	ZNF429	19	21719223	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	4661285	21719223	37409760	428	24637											
ZNF91	7644	broad.mit.edu	37	chr19	23543349	23543349	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttatgcttagtaagggttGaggaacggctaaaagctttg	11	13	12	5	1	1	1	0	1	1	0	1	2	1	2	0	3	3	5	0	3	6	6			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:23543349G>C	ENST00000300619.7	-	4	2637	c.2432C>G	c.(2431-2433)tCa>tGa	p.S811*	ZNF91_ENST00000397082.2_Nonsense_Mutation_p.S779*|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	811						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTAAGGGTTGAGGAACGGCT	0.408													4	128					0	0	0	0	C	23543349	G	C	23543349	4	2	127	1	0	0	0	0	0	1	0	0	18293	1294	45	2	1147	2	ZNF91	19	23543349	Nonsense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1824126	23543349	35585634	429	24638											
ANKRD27	84079	broad.mit.edu	37	chr19	33108525	33108525	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctccatcagcaactgctctCaaaagtttttctaccttaat	11	15	3	12	0	4	0	2	0	3	0	6	0	4	0	2	0	4	3	2	0	5	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:33108525C>G	ENST00000306065.4	-	21	2180	c.2022G>C	c.(2020-2022)ttG>ttC	p.L674F		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	674					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CAACTGCTCTCAAAAGTTTTT	0.274													4	72					0	0	0	0	G	33108525	C	G	33108525	3	3	127	1	0	0	0	0	1	0	0	0	655	825	29	2	1166	2	ANKRD27	19	33108525	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	9565176	33108525	26020458	430	24639											
CEBPA	1050	broad.mit.edu	37	chr19	33792385	33792385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtcagctccagcaccttCtgctgcgtctccacgttgcg	4	11	10	16	3	3	0	1	0	2	0	5	0	4	0	3	1	5	4	3	1	0	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:33792385C>T	ENST00000498907.2	-	1	1085	c.936G>A	c.(934-936)caG>caA	p.Q312Q	CTD-2540B15.7_ENST00000587312.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	312					cytokine-mediated signaling pathway|generation of precursor metabolites and energy|interspecies interaction between organisms|positive regulation of transcription from RNA polymerase III promoter		sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.Q312_K313insQ(19)|p.Q312del(3)|p.H200_K352>Q(1)|p.?(1)|p.K313fs*6(1)|p.N307_Q312del(1)|p.Q312_K313insQRNVETQQ(1)|p.Q312_K313insQQ(1)|p.K313del(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					CCAGCACCTTCTGCTGCGTCT	0.647			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation				6	81					0	0	0	0	T	33792385	C	T	33792385	2	4	127	1	0	0	0	0	0	0	0	1	3228	912	32	2		2	CEBPA	19	33792385	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	683860	33792385	25336598	431	24640											
UBA2	10054	broad.mit.edu	37	chr19	34929559	34929559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacttcatagggtgtgaccGagtgttatgagtgtcatcct	8	14	12	7	1	2	3	2	3	0	0	3	4	3	3	2	1	0	1	2	1	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:34929559G>A	ENST00000439527.2	+	6	679	c.181G>A	c.(181-183)Gag>Aag	p.E61K	UBA2_ENST00000246548.4_Missense_Mutation_p.E157K			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	157					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGGTGTGACCGAGTGTTATGA	0.398													15	206					0	0	0	0	A	34929559	G	A	34929559	3	1	127	1	0	0	0	0	1	0	0	0	16924	1059	37	1	491	1	UBA2	19	34929559	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1137174	34929559	24199424	432	24641											
ZNF382	84911	broad.mit.edu	37	chr19	37117312	37117312	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	actggatgggagaaatcactCctcaataccaagcatgagaa	16	7	9	9	0	2	2	2	1	0	2	3	5	3	3	2	2	2	1	2	2	5	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:37117312C>G	ENST00000435416.1	+	3	2005	c.510C>G	c.(508-510)ctC>ctG	p.L170L	ZNF382_ENST00000439428.1_Silent_p.L170L|ZNF382_ENST00000292928.2_Silent_p.L171L|ZNF382_ENST00000423582.1_Silent_p.L122L			Q96SR6	ZN382_HUMAN	zinc finger protein 382	171	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAAATCACTCCTCAATACCA	0.373													12	200					0	0	0	0	G	37117312	C	G	37117312	2	3	127	1	0	0	0	0	0	0	0	1	17968	842	30	2		2	ZNF382	19	37117312	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2187753	37117312	22011671	433	24642											
ZNF420	147923	broad.mit.edu	37	chr19	37619055	37619055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagagaattcacaccaatGaaaagccctatgaatgtaag	18	7	7	9	0	1	3	1	2	0	1	1	4	1	3	3	0	1	1	3	0	7	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:37619055G>A	ENST00000337995.3	+	5	1377	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	ZNF420_ENST00000304239.7_Missense_Mutation_p.E388K|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACCAATGAAAAGCCCTA	0.408													7	116					0	0	0	0	A	37619055	G	A	37619055	3	1	127	1	0	0	0	0	1	0	0	0	17992	1291	45	2	1172	2	ZNF420	19	37619055	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	501743	37619055	21509928	434	24643											
ZNF383	163087	broad.mit.edu	37	chr19	37733871	37733871	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcatacctttctcaacatCagagaatccataccggtaag	13	10	6	12	1	3	1	3	0	1	1	5	2	4	1	3	1	3	2	3	1	5	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:37733871C>G	ENST00000589413.1	+	8	1316	c.733C>G	c.(733-735)Cag>Gag	p.Q245E	ZNF383_ENST00000590503.1_Missense_Mutation_p.Q245E|ZNF383_ENST00000352998.3_Missense_Mutation_p.Q245E			Q8NA42	ZN383_HUMAN	zinc finger protein 383	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.Q245E(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTCAACATCAGAGAATCCA	0.408													5	80					0	0	0	0	G	37733871	C	G	37733871	3	3	127	1	0	0	0	0	1	0	0	0	17969	827	29	2	747	2	ZNF383	19	37733871	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	114816	37733871	21395112	435	24644											
PLEKHG2	64857	broad.mit.edu	37	chr19	39912806	39912806	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatctcagccaccagttTcaggctctgcaccccctgag	9	8	8	16	0	3	2	2	1	2	1	4	2	3	2	4	1	2	3	4	1	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:39912806T>G	ENST00000425673.1	+	15	1793	c.1468T>G	c.(1468-1470)Tca>Gca	p.S490A	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S460A|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.S519A|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.S519A|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.S519A			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	519					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCCACCAGTTTCAGGCTCTGC	0.572													4	27					0	0	0	0	G	39912806	T	G	39912806	3	3	127	1	0	0	0	0	1	0	0	0	12141	1783	62	5	1617	5	PLEKHG2	19	39912806	Missense_Mutation	SNP	T	TCGA-CN-A6V1-01A-12D-A34J-08	2178935	39912806	19216177	436	24645											
DLL3	10683	broad.mit.edu	37	chr19	39998560	39998560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctacgctcgggaggtagcGacgccccttttccccccgct	5	9	10	17	5	1	0	0	0	1	0	3	2	2	1	5	2	2	3	5	2	2	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:39998560G>A	ENST00000205143.4	+	8	1771	c.1764G>A	c.(1762-1764)gcG>gcA	p.A588A	DLL3_ENST00000356433.5_Intron	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	588					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGAGGTAGCGACGCCCCTTT	0.562													4	53					0	0	0	0	A	39998560	G	A	39998560	2	1	127	1	0	0	0	0	0	0	0	1	4604	1045	37	1		1	DLL3	19	39998560	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	85754	39998560	19130423	437	24646											
MAP3K10	4294	broad.mit.edu	37	chr19	40715015	40715015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttctttctgcaggctttGagcataagatcacagtccag	9	14	8	10	0	4	2	1	1	3	1	5	2	5	2	1	1	2	3	1	1	1	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:40715015G>C	ENST00000253055.3	+	6	1729	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	481					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGCAGGCTTTGAGCATAAGAT	0.502													11	143					0	0	0	0	C	40715015	G	C	40715015	3	2	127	1	0	0	0	0	1	0	0	0	9313	1291	45	2	1463	2	MAP3K10	19	40715015	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	716455	40715015	18413968	438	24647											
PRX	57716	broad.mit.edu	37	chr19	40902682	40902682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttgggagtttcatctccGacactttcagcagctgtacc	7	13	8	13	1	3	0	2	0	1	0	4	2	3	1	3	1	3	4	3	1	1	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:40902682G>A	ENST00000324001.7	-	7	1847	c.1577C>T	c.(1576-1578)tCg>tTg	p.S526L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	526	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.S526L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTTCATCTCCGACACTTTCAG	0.567													9	200					0	0	0	0	A	40902682	G	A	40902682	3	1	127	1	0	0	0	0	1	0	0	0	12721	1059	37	1	2812	1	PRX	19	40902682	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	187667	40902682	18226301	439	24648											
BCL2L12	83596	broad.mit.edu	37	chr19	50169080	50169080	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtaacagacccaaaagccGatgggacggcccgctgggct	10	4	15	12	3	0	1	0	0	0	1	0	3	0	2	3	4	2	3	3	4	3	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:50169080G>A	ENST00000246785.3	+	0	258				BCL2L12_ENST00000246784.3_Intron|IRF3_ENST00000598808.1_5'UTR|BCL2L12_ENST00000441864.2_De_novo_Start_InFrame|IRF3_ENST00000377139.3_5'UTR|IRF3_ENST00000597198.1_5'UTR	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)						apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCCAAAAGCCGATGGGACGGC	0.532													4	83					0	0	0	0	A	50169080	G	A	50169080	1	1	127	1	0	0	0	0	0	0	0	0	1374	1073	37	1		1	BCL2L12	19	50169080	Translation_Start_Site	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	9266398	50169080	8959903	440	24649											
SIGLEC8	27181	broad.mit.edu	37	chr19	51955714	51955714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttctcgcttgtggatcttGatctccgagtattcactgtc	5	17	9	10	2	4	1	1	1	3	0	7	3	4	2	1	1	0	3	1	1	1	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:51955714G>C	ENST00000321424.3	-	7	1485	c.1419C>G	c.(1417-1419)atC>atG	p.I473M	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.I380M|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.I364M	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	473					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGTGGATCTTGATCTCCGAGT	0.517													9	131					0	0	0	0	C	51955714	G	C	51955714	3	2	127	1	0	0	0	0	1	0	0	0	14402	1280	45	2	84	2	SIGLEC8	19	51955714	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1786634	51955714	7173269	441	24650											
ZNF528	84436	broad.mit.edu	37	chr19	52918855	52918855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgaatgtggcaagctcttCagtagcaattcaaacctttc	12	12	7	10	0	3	1	2	1	1	0	4	1	3	1	1	1	3	4	1	1	5	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:52918855C>T	ENST00000360465.3	+	7	1176	c.750C>T	c.(748-750)ttC>ttT	p.F250F	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GCAAGCTCTTCAGTAGCAATT	0.398													6	129					0	0	0	0	T	52918855	C	T	52918855	2	4	127	1	0	0	0	0	0	0	0	1	18064	825	29	2		2	ZNF528	19	52918855	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	963141	52918855	6210128	442	24651											
ZNF468	90333	broad.mit.edu	37	chr19	53344689	53344689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagcgctttgtgaatgaaGagggatgaattatgaccaaa	15	10	12	4	1	0	6	0	5	0	1	0	7	0	7	1	1	1	1	1	1	6	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:53344689G>A	ENST00000595646.1	-	4	978	c.858C>T	c.(856-858)ctC>ctT	p.L286L	ZNF468_ENST00000390651.4_Silent_p.L233L|ZNF468_ENST00000396409.4_Silent_p.L233L|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGTGAATGAAGAGGGATGAAT	0.418													14	202					0	0	0	0	A	53344689	G	A	53344689	2	1	127	1	0	0	0	0	0	0	0	1	18023	929	33	2		2	ZNF468	19	53344689	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	425834	53344689	5784294	443	24652											
NLRP12	91662	broad.mit.edu	37	chr19	54327417	54327417	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaggccgtccctgcctgcGgttcgtagcatgggggtgcc	4	8	16	13	3	0	1	0	0	0	1	2	1	1	1	4	4	4	3	4	4	1	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:54327417G>A	ENST00000324134.6	-	1	180	c.12C>T	c.(10-12)acC>acT	p.T4T	NLRP12_ENST00000391773.1_Silent_p.T4T|NLRP12_ENST00000391772.1_Silent_p.T4T|NLRP12_ENST00000351894.4_Silent_p.T4T|NLRP12_ENST00000391775.3_Silent_p.T4T|NLRP12_ENST00000354278.3_Silent_p.T4T|NLRP12_ENST00000345770.5_Silent_p.T4T|NLRP12_ENST00000535162.1_Silent_p.T4T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	4	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCTGCCTGCGGTTCGTAGCA	0.602													5	46					0	0	0	0	A	54327417	G	A	54327417	2	1	127	1	0	0	0	0	0	0	0	1	10544	1103	39	1		1	NLRP12	19	54327417	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	982728	54327417	4801566	444	24653											
PEG3	5178	broad.mit.edu	37	chr19	57327616	57327616	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttatagtatgactcttctGagattcagtgaatggcccac	10	14	9	8	0	3	3	1	3	2	1	3	4	3	3	1	1	0	2	1	1	4	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:57327616G>C	ENST00000326441.9	-	10	2557	c.2194C>G	c.(2194-2196)Cag>Gag	p.Q732E	PEG3_ENST00000423103.2_Missense_Mutation_p.Q732E|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q608E|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q606E|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	732					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGACTCTTCTGAGATTCAGTG	0.418													9	164					0	0	0	0	C	57327616	G	C	57327616	3	2	127	1	0	0	0	0	1	0	0	0	11791	1299	45	2	2576	2	PEG3	19	57327616	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3000199	57327616	1801367	445	24654											
ZSCAN4	201516	broad.mit.edu	37	chr19	58187634	58187634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagagaagaagggatttctGagttctcaagaatggtgctc	13	10	13	5	0	2	5	1	1	2	4	4	7	2	6	0	2	1	2	0	2	4	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr19:58187634G>A	ENST00000318203.5	+	3	818	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	41					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGGATTTCTGAGTTCTCAAG	0.398													8	107					0	0	0	0	A	58187634	G	A	58187634	3	1	127	1	0	0	0	0	1	0	0	0	18328	1291	45	2	123	2	ZSCAN4	19	58187634	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	860018	58187634	941349	446	24655											
SIRPA	140885	broad.mit.edu	37	chr20	1903191	1903191	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagggatgatgtgaagctCacctgccaggtggagcatga	11	7	14	9	0	1	3	1	3	0	0	1	5	1	5	2	3	3	2	2	3	1	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:1903191C>T	ENST00000358771.4	+	4	1139	c.987C>T	c.(985-987)ctC>ctT	p.L329L	SIRPA_ENST00000400068.3_Silent_p.L329L|SIRPA_ENST00000356025.3_Silent_p.L329L	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	329	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ATGTGAAGCTCACCTGCCAGG	0.572													6	50					0	0	0	0	T	1903191	C	T	1903191	2	4	127	1	0	0	0	0	0	0	0	1	14420	813	29	2		2	SIRPA	20	1903191	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08		1903191	61122329	447	24656											
TGM3	7053	broad.mit.edu	37	chr20	2321172	2321172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaactgctcgccgacttctCctgcaacaagttccctgcaa	9	9	7	16	2	1	0	0	0	1	0	4	1	2	0	3	0	5	5	3	0	4	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:2321172C>T	ENST00000381458.5	+	13	2090	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	676					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCCGACTTCTCCTGCAACAAG	0.602													6	93					0	0	0	0	T	2321172	C	T	2321172	3	4	127	1	0	0	0	0	1	0	0	0	15925	855	30	2	2077	2	TGM3	20	2321172	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	417981	2321172	60704348	448	24657											
ADRA1D	146	broad.mit.edu	37	chr20	4202277	4202277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagggacacagcctccacctCtgagcgctgggcgcacgctg	7	6	13	15	3	1	1	0	1	1	0	2	2	2	2	3	2	2	3	3	2	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:4202277C>T	ENST00000379453.4	-	2	1728	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	538				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GCCTCCACCTCTGAGCGCTGG	0.697													4	68					0	0	0	0	T	4202277	C	T	4202277	3	4	127	1	0	0	0	0	1	0	0	0	336	922	32	2	110	2	ADRA1D	20	4202277	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	1881105	4202277	58823243	449	24658											
NINL	22981	broad.mit.edu	37	chr20	25472104	25472104	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagaacagctctcgctcCgcctccacctcagaccgcag	8	6	7	20	3	2	2	1	0	1	2	6	2	5	2	6	0	2	3	6	0	1	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:25472104C>T	ENST00000278886.6	-	11	1441	c.1368G>A	c.(1366-1368)gcG>gcA	p.A456A	NINL_ENST00000422516.1_Silent_p.A456A	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	456					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTCTCGCTCCGCCTCCACCT	0.652													6	61					0	0	0	0	T	25472104	C	T	25472104	2	4	127	1	0	0	0	0	0	0	0	1	10490	639	23	1		1	NINL	20	25472104	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	21269827	25472104	37553416	450	24659											
TRPC4AP	26133	broad.mit.edu	37	chr20	33632354	33632354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaaactcaagctcttcttCtgttgagcatttttggcaag	9	14	7	11	0	4	1	1	1	3	0	4	1	4	1	1	1	3	4	1	1	3	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:33632354C>T	ENST00000252015.2	-	7	908	c.819G>A	c.(817-819)caG>caA	p.Q273Q	TRPC4AP_ENST00000432634.2_Silent_p.Q234Q|TRPC4AP_ENST00000451813.1_Silent_p.Q273Q			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	273	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGCTCTTCTTCTGTTGAGCAT	0.448													14	130					0	0	0	0	T	33632354	C	T	33632354	2	4	127	1	0	0	0	0	0	0	0	1	16676	912	32	2		2	TRPC4AP	20	33632354	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	8160250	33632354	29393166	451	24660											
ZNFX1	57169	broad.mit.edu	37	chr20	47886750	47886750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacactccacgatattcctCtggaagggaacatcttcctc	10	12	6	13	1	2	0	0	0	2	0	6	3	5	2	3	2	2	0	3	2	4	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:47886750C>T	ENST00000396105.1	-	3	1845	c.1599G>A	c.(1597-1599)caG>caA	p.Q533Q	ZNFX1_ENST00000371752.1_Silent_p.Q533Q|ZNFX1_ENST00000371754.4_Silent_p.Q533Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	533							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGATATTCCTCTGGAAGGGAA	0.502													11	108					0	0	0	0	T	47886750	C	T	47886750	2	4	127	1	0	0	0	0	0	0	0	1	18298	912	32	2		2	ZNFX1	20	47886750	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	14254396	47886750	15138770	452	24661											
NFATC2	4773	broad.mit.edu	37	chr20	50140149	50140149	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaggttctgggggaataatGagcagggatgttttgaaact	11	11	15	4	1	1	2	0	2	1	0	1	5	1	4	0	4	2	3	0	4	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:50140149G>C	ENST00000371564.3	-	2	850	c.631C>G	c.(631-633)Cat>Gat	p.H211D	NFATC2_ENST00000396009.3_Missense_Mutation_p.H211D|NFATC2_ENST00000414705.1_Missense_Mutation_p.H191D	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	211	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGGGAATAATGAGCAGGGATG	0.632													7	161					0	0	0	0	C	50140149	G	C	50140149	3	2	127	1	0	0	0	0	1	0	0	0	10432	1290	45	2	2230	2	NFATC2	20	50140149	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2253399	50140149	12885371	453	24662											
ZNF217	7764	broad.mit.edu	37	chr20	52199008	52199008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attttccttgcaattcttttCcttgggaggttctgttcgca	5	19	8	9	1	2	0	0	0	2	0	5	1	4	1	2	2	1	4	2	2	1	9			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:52199008C>T	ENST00000371471.2	-	2	783	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	ZNF217_ENST00000302342.3_Missense_Mutation_p.E120K			O75362	ZN217_HUMAN	zinc finger protein 217	120					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAATTCTTTTCCTTGGGAGGT	0.453													9	233					0	0	0	0	T	52199008	C	T	52199008	3	4	127	1	0	0	0	0	1	0	0	0	17867	864	30	2	2804	2	ZNF217	20	52199008	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	2058859	52199008	10826512	454	24663											
TCFL5	10732	broad.mit.edu	37	chr20	61492825	61492825	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgccgtcagccgccgcCtccatgtgcgagcagaggat	7	6	13	15	5	1	1	1	0	0	1	3	3	2	2	5	1	4	2	5	1	0	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr20:61492825C>T	ENST00000335351.3	-	1	290	c.198G>A	c.(196-198)gaG>gaA	p.E66E	TCFL5_ENST00000217162.5_Silent_p.E18E	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	66					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					CAGCCGCCGCCTCCATGTGCG	0.736													4	26					0	0	0	0	T	61492825	C	T	61492825	2	4	127	1	0	0	0	0	0	0	0	1	15793	680	24	4		4	TCFL5	20	61492825	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	9293817	61492825	1532695	455	24664											
IFNGR2	3460	broad.mit.edu	37	chr21	34799243	34799243	+	Silent	SNP	C	C	T																															accccaggagaaggctccctCatcatcaggttctcctctcc																										TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr21:34799243C>T	ENST00000290219.6	+	4	1113	c.465C>T	c.(463-465)ctC>ctT	p.L155L	IFNGR2_ENST00000381995.1_Silent_p.L174L|IFNGR2_ENST00000405436.1_Silent_p.L76L	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	155	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	AAGGCTCCCTCATCATCAGGT	0.443													15	268					0	0	0	0	T	34799243	C	T	34799243	2	4	127	1	0	0	0	0	0	0	0	1	7603	813	29	2		2	IFNGR2	21	34799243	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08		34799243	13330652	456	24665	201	2									
IFNGR2	3460	broad.mit.edu	37	chr21	34799249	34799249	+	Missense_Mutation	SNP	C	C	G																															ggagaaggctccctcatcatCaggttctcctctccctttga																										TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr21:34799249C>G	ENST00000290219.6	+	4	1119	c.471C>G	c.(469-471)atC>atG	p.I157M	IFNGR2_ENST00000381995.1_Missense_Mutation_p.I176M|IFNGR2_ENST00000405436.1_Missense_Mutation_p.I78M	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	157	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CCCTCATCATCAGGTTCTCCT	0.453													15	278					0	0	0	0	G	34799249	C	G	34799249	3	3	127	1	0	0	0	0	1	0	0	0	7603	816	29	2	485	2	IFNGR2	21	34799249	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	6	34799249	13330646	457	24666	201	2									
GAB4	128954	broad.mit.edu	37	chr22	17472947	17472947	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaacatccagctgctcacaGaggttcaggttgatggtgcg	9	10	12	10	1	3	2	3	1	0	1	4	2	4	2	1	3	4	4	1	3	1	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:17472947G>A	ENST00000400588.1	-	2	401	c.294C>T	c.(292-294)ctC>ctT	p.L98L	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	98	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCTGCTCACAGAGGTTCAGGT	0.488													13	343					0	0	0	0	A	17472947	G	A	17472947	2	1	127	1	0	0	0	0	0	0	0	1	6199	929	33	2		2	GAB4	22	17472947	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08		17472947	33831619	458	24667											
IL17RA	23765	broad.mit.edu	37	chr22	17589873	17589873	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgactggttcgaatgtgaGaacctctactcagcagatga	11	9	10	11	2	2	3	1	2	1	2	3	6	2	3	2	1	3	2	2	1	3	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:17589873G>A	ENST00000319363.6	+	13	1897	c.1764G>A	c.(1762-1764)gaG>gaA	p.E588E		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	588					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TCGAATGTGAGAACCTCTACT	0.667													4	22					0	0	0	0	A	17589873	G	A	17589873	2	1	127	1	0	0	0	0	0	0	0	1	7692	933	33	2		2	IL17RA	22	17589873	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	116926	17589873	33714693	459	24668											
PI4KA	5297	broad.mit.edu	37	chr22	21104247	21104247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatggcctcctggaggatCatcccacagcgtgcagcgaa	9	8	11	13	2	2	0	2	0	0	0	4	3	4	2	3	3	3	1	3	3	1	1			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:21104247C>T	ENST00000255882.6	-	28	3275	c.3189G>A	c.(3187-3189)atG>atA	p.M1063I	PI4KA_ENST00000572273.1_Missense_Mutation_p.M1005I	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1005					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)			CCTGGAGGATCATCCCACAGC	0.527													3	30					0	0	0	0	T	21104247	C	T	21104247	3	4	127	1	0	0	0	0	1	0	0	0	11945	826	29	2	3231	2	PI4KA	22	21104247	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	3514374	21104247	30200319	460	24669											
C22orf43	51233	broad.mit.edu	37	chr22	23974145	23974145	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtatcagattcataacaGggtgcgtccttccccctggg	8	11	10	12	1	3	1	3	0	0	1	5	1	5	1	3	2	2	1	3	2	2	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:23974145G>A	ENST00000317749.5	-	1	363	c.66C>T	c.(64-66)ccC>ccT	p.P22P	AP000346.2_ENST00000390329.2_RNA	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	22										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						ATTCATAACAGGGTGCGTCCT	0.547													5	120					0	0	0	0	A	23974145	G	A	23974145	2	1	127	1	0	0	0	0	0	0	0	1	2170	987	35	4		4	C22orf43	22	23974145	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	2869898	23974145	27330421	461	24670											
DDTL	100037417	broad.mit.edu	37	chr22	24313562	24313562	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaggtaagaagtcatgtttGaatgaggaagctctcttcat	13	12	11	5	0	3	3	2	2	1	1	4	5	3	4	0	2	1	3	0	2	5	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:24313562G>C	ENST00000215770.5	+	3	386	c.372G>C	c.(370-372)ttG>ttC	p.L124F	DDT_ENST00000350608.3_3'UTR|DDT_ENST00000398344.4_3'UTR	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	124						cytoplasm	lyase activity			kidney(1)|urinary_tract(1)	2						AGTCATGTTTGAATGAGGAAG	0.473													4	60					0	0	0	0	C	24313562	G	C	24313562	3	2	127	1	0	0	0	0	1	0	0	0	4372	1281	45	2	382	2	DDTL	22	24313562	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	339417	24313562	26991004	462	24671											
GTPBP1	9567	broad.mit.edu	37	chr22	39112877	39112877	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acagccacggcggcagcctgGagtggaccaagatctgtgag	10	5	15	11	2	1	2	0	1	1	1	1	4	1	4	3	4	2	1	3	4	1	0			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:39112877G>C	ENST00000216044.5	+	4	939	c.706G>C	c.(706-708)Gag>Cag	p.E236Q		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	236					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CGGCAGCCTGGAGTGGACCAA	0.517													5	132					0	0	0	0	C	39112877	G	C	39112877	3	2	127	1	0	0	0	0	1	0	0	0	6928	1175	41	2	720	2	GTPBP1	22	39112877	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	14799315	39112877	12191689	463	24672											
TCF20	6942	broad.mit.edu	37	chr22	42607723	42607723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggaccgctgcttttggctgGagaagtttgccgagaaagat	10	10	14	7	2	0	3	0	0	0	3	0	6	0	4	2	3	2	4	2	3	2	3	rs144735319		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:42607723G>C	ENST00000359486.3	-	1	3725	c.3589C>G	c.(3589-3591)Cca>Gca	p.P1197A	TCF20_ENST00000335626.4_Missense_Mutation_p.P1197A	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTTTGGCTGGAGAAGTTTGC	0.498													5	84					0	0	0	0	C	42607723	G	C	42607723	3	2	127	1	0	0	0	0	1	0	0	0	15784	1174	41	2	2331	2	TCF20	22	42607723	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	3494846	42607723	8696843	464	24673											
ARFGAP3	26286	broad.mit.edu	37	chr22	43230262	43230262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatacctcaggagaaacgtGagaggcaaaaaaatcttcct	17	7	8	9	1	2	2	1	1	1	2	3	4	3	2	2	2	2	1	2	2	5	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chr22:43230262G>A	ENST00000263245.5	-	5	682	c.463C>T	c.(463-465)Cac>Tac	p.H155Y	ARFGAP3_ENST00000429508.2_Intron|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.H111Y	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	155					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						GGAGAAACGTGAGAGGCAAAA	0.408													8	195					0	0	0	0	A	43230262	G	A	43230262	3	1	127	1	0	0	0	0	1	0	0	0	853	1290	45	2	1135	2	ARFGAP3	22	43230262	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	622539	43230262	8074304	465	24674											
SLC25A6	293	broad.mit.edu	37	chrX	1508295	1508295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgcgctctgtgcctgactttCccacgtccgctgccaggcgg	3	9	12	17	5	1	1	0	1	1	0	3	1	3	1	4	2	2	2	4	2	0	1	rs143851976		TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:1508295C>G	ENST00000381401.5	-	2	1151	c.437G>C	c.(436-438)gGa>gCa	p.G146A	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	146					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GCCTGACTTTCCCACGTCCGC	0.667													7	218					0	0	0	0	G	1508295	C	G	1508295	3	3	127	1	0	0	0	0	1	0	0	0	14601	855	30	2	471	2	SLC25A6	23	1508295	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08		1508295	153762265	466	24675											
GPM6B	2824	broad.mit.edu	37	chrX	13794420	13794420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaggtgataggacatgtaGaactacaaaagaacagggca	19	5	11	6	0	0	3	0	1	0	2	0	4	0	4	0	3	4	2	0	3	8	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:13794420G>C	ENST00000454189.2	-	6	724	c.597C>G	c.(595-597)ttC>ttG	p.F199L	GPM6B_ENST00000316715.4_Missense_Mutation_p.F258L|GPM6B_ENST00000355135.2_Missense_Mutation_p.F258L|GPM6B_ENST00000398361.3_Missense_Mutation_p.F132L|GPM6B_ENST00000356942.5_Missense_Mutation_p.F218L|GPM6B_ENST00000493677.1_Missense_Mutation_p.F232L	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	218					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						AGGACATGTAGAACTACAAAA	0.493													6	61					0	0	0	0	C	13794420	G	C	13794420	3	2	127	1	0	0	0	0	1	0	0	0	6665	933	33	2	305	2	GPM6B	23	13794420	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	12286125	13794420	141476140	467	24676											
CDKL5	6792	broad.mit.edu	37	chrX	18626935	18626935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaattttacttccagcctgGagaacagctccctccagaga	12	10	7	12	0	0	2	0	0	0	2	3	4	3	2	4	1	4	1	4	1	4	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:18626935G>A	ENST00000379989.3	+	14	2234	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E	CDKL5_ENST00000379996.3_Missense_Mutation_p.G650E|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	650					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TTCCAGCCTGGAGAACAGCTC	0.463													5	35					0	0	0	0	A	18626935	G	A	18626935	3	1	127	1	0	0	0	0	1	0	0	0	3186	1174	41	2	1995	2	CDKL5	23	18626935	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	4832515	18626935	136643625	468	24677											
PRRG1	5638	broad.mit.edu	37	chrX	37285197	37285197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattgagcgtgagtgcaaaGaagaattctgtacatttgaa	15	11	10	5	1	1	5	0	3	1	2	1	5	1	5	0	0	3	2	0	0	5	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:37285197G>A	ENST00000542554.1	+	4	387	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	PRRG1_ENST00000449135.2_Missense_Mutation_p.E39K|TM4SF2_ENST00000465127.1_Missense_Mutation_p.E39K|PRRG1_ENST00000463135.1_Missense_Mutation_p.E39K|PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000378628.4_Missense_Mutation_p.E39K|PRRG1_ENST00000543642.1_Missense_Mutation_p.E39K	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	39	Gla.					extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TGAGTGCAAAGAAGAATTCTG	0.368													7	40					0	0	0	0	A	37285197	G	A	37285197	3	1	127	1	0	0	0	0	1	0	0	0	12684	943	33	2	121	2	PRRG1	23	37285197	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	18658262	37285197	117985363	469	24678											
WDR45	11152	broad.mit.edu	37	chrX	48934116	48934116	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgtcccgggtatcaaactCaaacagctttcggggattgt	9	12	11	9	2	2	0	2	0	0	0	4	1	3	1	1	3	3	3	1	3	3	4			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:48934116C>G	ENST00000356463.3	-	7	850	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	WDR45_ENST00000553851.1_Intron|WDR45_ENST00000473974.1_Missense_Mutation_p.E137Q|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000396681.4_Missense_Mutation_p.E137Q|WDR45_ENST00000485908.1_Missense_Mutation_p.E102Q|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.E138Q|WDR45_ENST00000376372.3_Missense_Mutation_p.E137Q|WDR45_ENST00000322995.8_Missense_Mutation_p.E137Q	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	137					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GTATCAAACTCAAACAGCTTT	0.537													7	87					0	0	0	0	G	48934116	C	G	48934116	3	3	127	1	0	0	0	0	1	0	0	0	17393	835	29	2	697	2	WDR45	23	48934116	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	11648919	48934116	106336444	470	24679											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913882	77913882	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaatttcattctccaatttCagaacaatataggaggctgc	13	12	7	9	1	3	1	2	0	1	1	4	3	3	2	1	2	2	1	1	2	6	5			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:77913882C>T	ENST00000321110.1	-	2	331	c.36G>A	c.(34-36)ctG>ctA	p.L12L		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	12							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCTCCAATTTCAGAACAATAT	0.473													3	23					0	0	0	0	T	77913882	C	T	77913882	2	4	127	1	0	0	0	0	0	0	0	1	17686	813	29	2		2	ZCCHC5	23	77913882	Silent	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	28979766	77913882	77356678	471	24680											
FAM46D	169966	broad.mit.edu	37	chrX	79698716	79698716	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacaagctcatatgtaccagGaaacctgaagagattagagg	16	7	10	8	0	1	3	1	1	0	2	1	5	1	4	2	2	3	2	2	2	6	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:79698716G>A	ENST00000538312.1	+	5	1012	c.678G>A	c.(676-678)agG>agA	p.R226R	FAM46D_ENST00000308293.5_Silent_p.R226R	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	226										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TATGTACCAGGAAACCTGAAG	0.448													10	50					0	0	0	0	A	79698716	G	A	79698716	2	1	127	1	0	0	0	0	0	0	0	1	5615	1165	41	2		2	FAM46D	23	79698716	Silent	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	1784834	79698716	75571844	472	24681											
NXF5	55998	broad.mit.edu	37	chrX	101092466	101092466	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttaacctcctacccacctCtggctctctgggcctgcccg	4	10	7	20	1	2	0	0	0	2	0	4	0	3	0	7	2	3	1	7	2	2	2			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:101092466C>G	ENST00000537026.1	-	15	1439	c.1080G>C	c.(1078-1080)caG>caC	p.Q360H	NXF5_ENST00000473265.2_Missense_Mutation_p.Q360H|NXF5_ENST00000361708.2_Missense_Mutation_p.Q360H	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	360	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CTACCCACCTCTGGCTCTCTG	0.547													18	134					0	0	0	0	G	101092466	C	G	101092466	3	3	127	1	0	0	0	0	1	0	0	0	10857	912	32	2	25	2	NXF5	23	101092466	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	21393750	101092466	54178094	473	24682											
DDX26B	203522	broad.mit.edu	37	chrX	134706908	134706908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaactgcacttagactgacaGaattgaacaccaaagaattt	18	9	6	8	0	0	5	0	2	0	3	0	5	0	5	1	0	3	1	1	0	6	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:134706908G>C	ENST00000370752.4	+	11	1790	c.1456G>C	c.(1456-1458)Gaa>Caa	p.E486Q	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	486										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TAGACTGACAGAATTGAACAC	0.343													4	50					0	0	0	0	C	134706908	G	C	134706908	3	2	127	1	0	0	0	0	1	0	0	0	4385	943	33	2	1498	2	DDX26B	23	134706908	Missense_Mutation	SNP	G	TCGA-CN-A6V1-01A-12D-A34J-08	33614442	134706908	20563652	474	24683											
MPP1	4354	broad.mit.edu	37	chrX	154019323	154019323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccattgatttctaggatctCatcccccacgtgaagggagc	9	10	10	12	1	2	2	1	2	2	0	4	4	3	4	3	2	1	0	3	2	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrX:154019323C>T	ENST00000413259.3	-	5	648	c.256G>A	c.(256-258)Gag>Aag	p.E86K	MPP1_ENST00000369534.3_Missense_Mutation_p.E116K|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000393531.1_Missense_Mutation_p.E116K	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	116	PDZ.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTAGGATCTCATCCCCCACG	0.418													8	137					0	0	0	0	T	154019323	C	T	154019323	3	4	127	1	0	0	0	0	1	0	0	0	9803	835	29	2	1090	2	MPP1	23	154019323	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08	19312415	154019323	1251237	475	24684											
PCDH11Y	83259	broad.mit.edu	37	chrY	5605718	5605718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaatcagccacagctcttCtctgccacaggttattgccc	8	11	7	15	0	3	0	1	0	2	0	4	0	3	0	3	1	5	3	3	1	2	3			TCGA-CN-A6V1-01A-12D-A34J-08	TCGA-CN-A6V1-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e65f7b-baad-443a-9b93-8d7aab74f090	1de93cac-f6b5-4c6d-b5c1-176fbd48c647	g.chrY:5605718C>T	ENST00000215473.6	+	6	3758	c.3758C>T	c.(3757-3759)tCt>tTt	p.S1253F				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1253					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CACAGCTCTTCTCTGCCACAG	0.547													4	108					0	0	0	0	T	5605718	C	T	5605718	3	4	127	1	0	0	0	0	1	0	0	0	11580	913	32	2	3834	2	PCDH11Y	24	5605718	Missense_Mutation	SNP	C	TCGA-CN-A6V1-01A-12D-A34J-08		5605718	53767848	476	24685											
NBPF1	55672	broad.mit.edu	37	chr1	16895572	16895572	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaatggagtactcaccgccTatgtcaacagccatgcagac	13	7	8	13	1	2	1	2	0	0	1	2	2	2	2	3	1	4	2	3	1	4	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:16895572T>A	ENST00000430580.2	-	23	3497	c.2610A>T	c.(2608-2610)atA>atT	p.I870I	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	870	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACTCACCGCCTATGTCAACAG	0.493													122	1753					0	0	0	0	A	16895572	T	A	16895572	2	1	128	1	0	0	0	0	0	0	0	1	10262	1512	53	5		5	NBPF1	1	16895572	Silent	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08		16895572	232355049	1	24686											
RAP1GAP	5909	broad.mit.edu	37	chr1	21940560	21940560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccgagggcagcgtccAgtgagtagtaattgaaatgc	10	8	16	7	2	0	2	0	2	0	0	1	3	1	2	2	3	2	3	2	3	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:21940560A>G	ENST00000542643.2	-	9	616	c.314T>C	c.(313-315)cTg>cCg	p.L105P	RAP1GAP_ENST00000374765.4_Missense_Mutation_p.L105P|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.L105P|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.L136P|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.L169P	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	105					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGCAGCGTCCAGTGAGTAGTA	0.597													10	36					0	0	0	0	G	21940560	A	G	21940560	3	3	128	1	0	0	0	0	1	0	0	0	13119	188	7	5	1827	5	RAP1GAP	1	21940560	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	5044988	21940560	227310061	2	24687											
TCEB3	6924	broad.mit.edu	37	chr1	24078974	24078974	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccgtccactgccttccctCgagctgatatcctccttcca	6	12	5	18	2	0	1	0	1	0	0	6	2	5	1	7	0	3	1	7	0	2	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:24078974C>T	ENST00000418390.2	+	5	1852	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	527					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TGCCTTCCCTCGAGCTGATAT	0.478													7	34					0	0	0	0	T	24078974	C	T	24078974	2	4	128	1	0	0	0	0	0	0	0	1	15775	871	31	1		1	TCEB3	1	24078974	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	2138414	24078974	225171647	3	24688											
TMEM57	55219	broad.mit.edu	37	chr1	25773365	25773365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcttttcatcagaagcGtctatgattccttcagatac	9	15	7	10	1	5	3	3	1	2	2	6	3	6	3	1	1	2	1	1	1	3	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:25773365G>A	ENST00000374343.4	+	2	372	c.193G>A	c.(193-195)Gtc>Atc	p.V65I	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Missense_Mutation_p.V65I	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	65						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CATCAGAAGCGTCTATGATTC	0.443													4	147					0	0	0	0	A	25773365	G	A	25773365	3	1	128	1	0	0	0	0	1	0	0	0	16278	1145	40	1	199	1	TMEM57	1	25773365	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	1694391	25773365	223477256	4	24689											
CATSPER4	378807	broad.mit.edu	37	chr1	26524778	26524778	+	Splice_Site	DEL	T	T	-																															gctcttttctctctgacaggTtttttccgtgtttggagtaa																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:26524778delT	ENST00000456354.2	+	6	747	c.678_splice	c.e6-1	p.V227_splice		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	227					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGACAGGTTTTTTCCGTG	0.488													7	630	---	---	---	---					-	26524778	T	-	26524778	8	5	128	1	0	1	0	1	0	0	1	0	2715	1739	60	0	702	0	CATSPER4	1	26524778	Splice_Site	DEL	T	TCGA-CN-A6V3-01A-12D-A34J-08	751413	26524778	222725843	5	24690											
TINAGL1	64129	broad.mit.edu	37	chr1	32049108	32049108	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggcatgaccctggatGagggcattcgctaccgcctg	6	9	14	12	2	1	2	0	2	1	0	2	3	1	3	3	4	1	3	3	4	1	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:32049108G>T	ENST00000271064.7	+	5	590	c.514G>T	c.(514-516)Gag>Tag	p.E172*	TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Nonsense_Mutation_p.E141*	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	172					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		GACCCTGGATGAGGGCATTCG	0.577													10	24					0.361761	0.361761	1	0	T	32049108	G	T	32049108	4	4	128	1	0	0	0	0	0	1	0	0	16016	1291	45	2	528	2	TINAGL1	1	32049108	Nonsense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	5524330	32049108	217201513	6	24691											
TRIM62	55223	broad.mit.edu	37	chr1	33625346	33625346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggtcggtttcagccagcCgctcctgcaggatctgggct	4	9	14	14	3	2	0	1	0	1	0	4	1	3	1	4	4	3	4	4	4	0	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:33625346C>T	ENST00000291416.5	-	3	937	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Missense_Mutation_p.R114Q	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	235						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				TTCAGCCAGCCGCTCCTGCAG	0.692													14	38					0	0	0	0	T	33625346	C	T	33625346	3	4	128	1	0	0	0	0	1	0	0	0	16632	652	23	1	735	1	TRIM62	1	33625346	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	1576238	33625346	215625275	7	24692											
LRRC7	57554	broad.mit.edu	37	chr1	70397246	70397246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctaggcaataatgaattcgGtgagctggtaagcaaatgca	14	9	11	7	1	0	2	0	2	0	0	1	2	0	2	1	3	3	5	1	3	6	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:70397246G>T	ENST00000310961.5	+	9	1023	c.605G>T	c.(604-606)gGt>gTt	p.G202V	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.G197V			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	197						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AATGAATTCGGTGAGCTGGTA	0.388													10	41					6.40141e-05	6.9637e-05	1	0	T	70397246	G	T	70397246	3	4	128	1	0	0	0	0	1	0	0	0	9084	1261	44	4	612	4	LRRC7	1	70397246	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	36771900	70397246	178853375	8	24693											
GIPC2	54810	broad.mit.edu	37	chr1	78546488	78546488	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaatgtgtataaatctGaggattcacttggtctcacc	12	13	9	7	0	3	2	2	2	2	0	4	3	3	3	1	2	0	1	1	2	5	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:78546488G>T	ENST00000370759.3	+	2	563	c.370G>T	c.(370-372)Gag>Tag	p.E124*	GIPC2_ENST00000476882.1_3'UTR	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	124	PDZ.					cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GTATAAATCTGAGGATTCACT	0.338													8	75					1.12685e-05	1.23417e-05	1	0	T	78546488	G	T	78546488	4	4	128	1	0	0	0	0	0	1	0	0	6444	1291	45	2	376	2	GIPC2	1	78546488	Nonsense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	8149242	78546488	170704133	9	24694											
LPHN2	23266	broad.mit.edu	37	chr1	82431761	82431761	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggaagttgccgtactCagtacagaaggacagatcca	12	8	11	10	1	1	2	1	0	0	2	3	4	3	4	3	2	3	3	3	2	4	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:82431761C>A	ENST00000370728.1	+	14	2670	c.2025C>A	c.(2023-2025)ctC>ctA	p.L675L	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Silent_p.L662L|LPHN2_ENST00000271029.4_Silent_p.L675L|LPHN2_ENST00000370727.1_Silent_p.L675L|LPHN2_ENST00000370721.1_Silent_p.L600L|LPHN2_ENST00000370723.1_Silent_p.L662L|LPHN2_ENST00000335786.5_Silent_p.L675L|LPHN2_ENST00000370730.1_Silent_p.L675L|LPHN2_ENST00000370715.1_Silent_p.L662L|LPHN2_ENST00000394879.1_Silent_p.L662L|LPHN2_ENST00000370713.1_Silent_p.L662L|LPHN2_ENST00000370725.1_Silent_p.L675L|LPHN2_ENST00000359929.3_Silent_p.L662L|LPHN2_ENST00000370717.2_Silent_p.L675L			O95490	LPHN2_HUMAN	latrophilin 2	675					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTGCCGTACTCAGTACAGAAG	0.438													17	131					2.39187e-15	3.10558e-15	1	0	A	82431761	C	A	82431761	2	1	128	1	0	0	0	0	0	0	0	1	8980	813	29	2		2	LPHN2	1	82431761	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	3885273	82431761	166818860	10	24695											
LPPR5	163404	broad.mit.edu	37	chr1	99422205	99422205	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccagcgggtttatataGcaacagtctccagttaaaat	13	10	8	10	2	1	0	0	0	1	0	2	0	1	0	2	1	3	4	2	1	6	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:99422205G>C	ENST00000370188.3	-	2	690	c.330C>G	c.(328-330)tgC>tgG	p.C110W	LPPR5_ENST00000263177.4_Missense_Mutation_p.C110W	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		110						integral to membrane	hydrolase activity										GGTTTATATAGCAACAGTCTC	0.363													4	49					0	0	0	0	C	99422205	G	C	99422205	3	2	128	1	0	0	0	0	1	0	0	0	8992	963	34	4	655	4	LPPR5	1	99422205	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	16990444	99422205	149828416	11	24696											
COL11A1	1301	broad.mit.edu	37	chr1	103345284	103345284	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaggattattgtcataGgacatctcctcatcatttga	14	14	6	7	0	4	1	3	1	1	0	5	3	4	3	1	2	0	0	1	2	4	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:103345284G>A	ENST00000358392.2	-	66	5582	c.5265C>T	c.(5263-5265)tcC>tcT	p.S1755S	COL11A1_ENST00000512756.1_Silent_p.S1627S|COL11A1_ENST00000370096.3_Silent_p.S1743S|COL11A1_ENST00000353414.4_Silent_p.S1704S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1743	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TATTGTCATAGGACATCTCCT	0.443													11	74					0	0	0	0	A	103345284	G	A	103345284	2	1	128	1	0	0	0	0	0	0	0	1	3697	987	35	4		4	COL11A1	1	103345284	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	3923079	103345284	145905337	12	24697											
CHIA	27159	broad.mit.edu	37	chr1	111862902	111862902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggcagcgggaacgggagCgggagtagcagctctggagg	9	4	21	7	3	1	0	0	0	1	0	1	4	1	4	0	6	5	4	0	6	2	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:111862902C>A	ENST00000369740.1	+	12	1348	c.1245C>A	c.(1243-1245)agC>agA	p.S415R	CHIA_ENST00000430615.1_Missense_Mutation_p.S307R|CHIA_ENST00000451398.2_Missense_Mutation_p.S254R|CHIA_ENST00000343320.6_Missense_Mutation_p.S415R|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000483391.1_Missense_Mutation_p.S254R|CHIA_ENST00000353665.6_Missense_Mutation_p.S254R	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	415	Poly-Ser.				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GGAACGGGAGCGGGAGTAGCA	0.582													21	43					4.35082e-09	5.113e-09	1	0	A	111862902	C	A	111862902	3	1	128	1	0	0	0	0	1	0	0	0	3371	767	27	3	1287	3	CHIA	1	111862902	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	8517618	111862902	137387719	13	24698											
TCHH	7062	broad.mit.edu	37	chr1	152080828	152080828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagctgttcgtcttcgCggaattttctgtcgcgctcc	4	13	12	12	5	2	0	0	0	2	0	6	2	3	2	1	2	2	4	1	2	1	4	rs71585886		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:152080828C>A	ENST00000368804.1	-	2	4864	c.4865G>T	c.(4864-4866)cGc>cTc	p.R1622L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1622	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCGTCTTCGCGGAATTTTCT	0.602													30	130					3.1745e-13	4.00858e-13	1	0	A	152080828	C	A	152080828	3	1	128	1	0	0	0	0	1	0	0	0	15794	768	27	3	970	3	TCHH	1	152080828	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	40217926	152080828	97169793	14	24699											
IFI16	3428	broad.mit.edu	37	chr1	158990176	158990176	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacgaaattcaggatgatAgaggaaaaatggatgtagtg	16	10	12	3	1	2	2	1	1	1	1	2	6	2	5	0	3	1	1	0	3	6	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:158990176A>T	ENST00000295809.7	+	6	1273	c.1018A>T	c.(1018-1020)Aga>Tga	p.R340*	IFI16_ENST00000448393.2_Nonsense_Mutation_p.R340*|IFI16_ENST00000368131.4_Nonsense_Mutation_p.R340*|IFI16_ENST00000340979.6_Nonsense_Mutation_p.R340*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.R340*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.R288*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.R284*			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	340	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCAGGATGATAGAGGAAAAAT	0.353													13	71					0	0	0	0	T	158990176	A	T	158990176	4	4	128	1	0	0	0	0	0	1	0	0	7564	412	15	5	1036	5	IFI16	1	158990176	Nonsense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	6909348	158990176	90260445	15	24700											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179851798	179851798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctccgtcgcgccagggccGgcgggaagtgaggttctcgg	4	7	17	13	6	1	1	0	1	1	0	5	2	3	2	4	5	0	1	4	5	1	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:179851798G>A	ENST00000435319.3	+	1	352	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.R54Q	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	54						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CGCCAGGGCCGGCGGGAAGTG	0.677													10	41					0	0	0	0	A	179851798	G	A	179851798	3	1	128	1	0	0	0	0	1	0	0	0	16467	1116	39	1	163	1	TOR1AIP1	1	179851798	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	20861622	179851798	69398823	16	24701											
HMCN1	83872	broad.mit.edu	37	chr1	186026439	186026439	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaagaactcagtatctttGacttgtgaagcttctggaat	13	13	9	6	0	3	3	1	2	2	1	3	5	3	4	0	1	2	2	0	1	6	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:186026439G>C	ENST00000271588.4	+	46	7447	c.7218G>C	c.(7216-7218)ttG>ttC	p.L2406F	HMCN1_ENST00000367492.2_Missense_Mutation_p.L2406F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2406	Ig-like C2-type 22.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGTATCTTTGACTTGTGAAG	0.423													18	85					0	0	0	0	C	186026439	G	C	186026439	3	2	128	1	0	0	0	0	1	0	0	0	7270	1281	45	2	7400	2	HMCN1	1	186026439	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	6174641	186026439	63224182	17	24702											
PTPRC	5788	broad.mit.edu	37	chr1	198703338	198703338	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaatagggtttcaaagaacCcaggaaatacattgctgcac	15	9	8	9	0	2	1	2	0	0	1	2	2	2	2	1	2	4	3	1	2	6	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:198703338C>G	ENST00000367376.2	+	21	2321	c.2150C>G	c.(2149-2151)cCc>cGc	p.P717R	PTPRC_ENST00000352140.3_Missense_Mutation_p.P669R|PTPRC_ENST00000442510.2_Missense_Mutation_p.P719R|PTPRC_ENST00000594404.1_Missense_Mutation_p.P556R|PTPRC_ENST00000348564.6_Missense_Mutation_p.P558R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	717	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTCAAAGAACCCAGGAAATAC	0.294													25	103					0	0	0	0	G	198703338	C	G	198703338	3	3	128	1	0	0	0	0	1	0	0	0	12879	623	22	4	2239	4	PTPRC	1	198703338	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	12676899	198703338	50547283	18	24703											
FMOD	2331	broad.mit.edu	37	chr1	203317209	203317209	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggatggagagccgtaggTgtaggctggcccttcatcca	8	8	16	9	1	1	1	1	0	0	1	2	3	2	2	3	6	1	3	3	6	2	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:203317209T>A	ENST00000354955.4	-	2	653	c.190A>T	c.(190-192)Acc>Tcc	p.T64S	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	64					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GAGCCGTAGGTGTAGGCTGGC	0.612													14	49					0	0	0	0	A	203317209	T	A	203317209	3	1	128	1	0	0	0	0	1	0	0	0	6004	1696	59	5	948	5	FMOD	1	203317209	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	4613871	203317209	45933412	19	24704											
KCNH1	3756	broad.mit.edu	37	chr1	211192448	211192448	+	Frame_Shift_Del	DEL	A	A	-																															ggttttgaaggagacattatAagggaccaagatggctgtat																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:211192448delA	ENST00000367007.4	-	6	878	c.709delT	c.(709-711)atfs	p.Y237fs	KCNH1_ENST00000271751.4_Frame_Shift_Del_p.Y237fs	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	237					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAGACATTATAAGGGACCAAG	0.413													21	65	---	---	---	---					-	211192448	A	-	211192448	7	5	128	1	0	1	0	1	0	0	0	0	8084	362	13	0	2284	0	KCNH1	1	211192448	Frame_Shift_Del	DEL	A	TCGA-CN-A6V3-01A-12D-A34J-08	7875239	211192448	38058173	20	24705											
SLC30A10	55532	broad.mit.edu	37	chr1	220100382	220100382	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcctacctctgatattcaGagcttcagactttttctctt	9	17	4	11	0	4	3	2	1	2	2	6	3	5	3	2	0	2	1	2	0	3	7			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:220100382G>C	ENST00000366926.3	-	2	867	c.706C>G	c.(706-708)Ctg>Gtg	p.L236V	SLC30A10_ENST00000536446.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	236					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CTGATATTCAGAGCTTCAGAC	0.373													34	100					0	0	0	0	C	220100382	G	C	220100382	3	2	128	1	0	0	0	0	1	0	0	0	14642	933	33	2	763	2	SLC30A10	1	220100382	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	8907934	220100382	29150239	21	24706											
URB2	9816	broad.mit.edu	37	chr1	229783323	229783323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcgggcctgtcttagatGtcctggctgcactgctgcgg	3	12	15	11	2	1	1	0	0	1	1	3	1	2	1	2	4	3	3	2	4	1	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:229783323G>T	ENST00000258243.2	+	7	4109	c.3973G>T	c.(3973-3975)Gtc>Ttc	p.V1325F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1325						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGTCTTAGATGTCCTGGCTGC	0.542													24	82					1.64293e-13	2.08277e-13	1	0	T	229783323	G	T	229783323	3	4	128	1	0	0	0	0	1	0	0	0	17121	1377	48	4	3995	4	URB2	1	229783323	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	9682941	229783323	19467298	22	24707											
TARBP1	6894	broad.mit.edu	37	chr1	234565013	234565013	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgttgcttaaagaagataTaattttccacgccatgtcaa	14	13	7	7	1	1	2	1	0	0	2	2	2	2	2	2	0	1	2	2	0	6	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:234565013T>C	ENST00000040877.1	-	17	2928	c.2929A>G	c.(2929-2931)Ata>Gta	p.I977V		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	977					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AAAGAAGATATAATTTTCCAC	0.328													26	77					0	0	0	0	C	234565013	T	C	234565013	3	2	128	1	0	0	0	0	1	0	0	0	15646	1406	49	5	1992	5	TARBP1	1	234565013	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	4781690	234565013	14685608	23	24708											
FMN2	56776	broad.mit.edu	37	chr1	240492415	240492415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaaaaatagaaaagcatGgccgatcttccaaagacaag	19	6	8	8	2	1	2	0	0	1	2	3	4	2	2	2	1	1	1	2	1	8	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:240492415G>C	ENST00000319653.9	+	9	4485	c.4255G>C	c.(4255-4257)Ggc>Cgc	p.G1419R	FMN2_ENST00000545751.1_Missense_Mutation_p.G15R	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1419	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGAAAAGCATGGCCGATCTTC	0.423													22	68					0	0	0	0	C	240492415	G	C	240492415	3	2	128	1	0	0	0	0	1	0	0	0	5995	1348	47	4	4289	4	FMN2	1	240492415	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	5927402	240492415	8758206	24	24709											
OR2T8	343172	broad.mit.edu	37	chr1	248084585	248084585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacttgaccggaagtaaggCcatctcccgcgctggctgtg	7	9	12	13	3	1	1	0	1	1	0	2	2	1	2	3	3	1	3	3	3	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248084585C>T	ENST00000319968.4	+	1	266	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAAGTAAGGCCATCTCCCGC	0.577													11	55					0	0	0	0	T	248084585	C	T	248084585	3	4	128	1	0	0	0	0	1	0	0	0	11101	739	26	4	268	4	OR2T8	1	248084585	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	7592170	248084585	1166036	25	24710											
OR2M2	391194	broad.mit.edu	37	chr1	248344149	248344149	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcccatgctgaatcccCtcatctacagcctccgcaac	9	9	4	19	1	3	1	2	1	1	0	6	1	6	1	5	0	4	2	5	0	3	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248344149C>G	ENST00000359682.2	+	1	862	c.862C>G	c.(862-864)Ctc>Gtc	p.L288V		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTGAATCCCCTCATCTACAG	0.463													61	195					0	0	0	0	G	248344149	C	G	248344149	3	3	128	1	0	0	0	0	1	0	0	0	11081	681	24	4	864	4	OR2M2	1	248344149	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	259564	248344149	906472	26	24711											
OR2M2	391194	broad.mit.edu	37	chr1	248344165	248344165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccctcatctacagcctccGcaacaaggaggtgactagag	11	7	9	14	1	2	2	1	1	1	1	4	3	4	3	4	2	3	1	4	2	4	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248344165G>A	ENST00000359682.2	+	1	878	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACAGCCTCCGCAACAAGGAG	0.463													52	234					0	0	0	0	A	248344165	G	A	248344165	3	1	128	1	0	0	0	0	1	0	0	0	11081	1087	38	1	880	1	OR2M2	1	248344165	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	16	248344165	906456	27	24712											
OR2T33	391195	broad.mit.edu	37	chr1	248436851	248436851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagccagcgcgggagatgGccttacttccggtcaagtag	9	7	13	12	3	1	1	1	0	0	1	2	2	2	1	3	3	3	1	3	3	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248436851G>A	ENST00000318021.2	-	1	287	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCGGGAGATGGCCTTACTTCC	0.567													7	256					0	0	0	0	A	248436851	G	A	248436851	3	1	128	1	0	0	0	0	1	0	0	0	11095	1203	42	4	699	4	OR2T33	1	248436851	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	92686	248436851	813770	28	24713											
OR2M7	391196	broad.mit.edu	37	chr1	248487018	248487018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctataaatgagaggattcaGcatgggagtgacgatggtgt	12	10	15	4	1	1	2	1	2	0	1	1	6	1	4	0	3	1	2	0	3	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248487018G>T	ENST00000317965.2	-	1	881	c.853C>A	c.(853-855)Ctg>Atg	p.L285M		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAGGATTCAGCATGGGAGTG	0.438													31	78					1.08312e-15	1.41774e-15	1	0	T	248487018	G	T	248487018	3	4	128	1	0	0	0	0	1	0	0	0	11085	962	34	4	88	4	OR2M7	1	248487018	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	50167	248487018	763603	29	24714											
OR14C36	127066	broad.mit.edu	37	chr1	248512906	248512906	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcctttctggtttttattCcataatgcctcccctcttta	6	19	4	12	0	2	0	0	0	2	0	5	1	5	0	5	1	1	1	5	1	3	8			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248512906C>A	ENST00000317861.1	+	1	830	c.830C>A	c.(829-831)tCc>tAc	p.S277Y		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GGTTTTTATTCCATAATGCCT	0.418													22	80					8.10497e-08	9.25461e-08	1	0	A	248512906	C	A	248512906	3	1	128	1	0	0	0	0	1	0	0	0	11017	855	30	2	832	2	OR14C36	1	248512906	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	25888	248512906	737715	30	24715											
OR2T3	343173	broad.mit.edu	37	chr1	248636947	248636947	+	Missense_Mutation	SNP	C	C	G																															tggagatgataccatttcccCgtcaggctgtgggatccaga																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248636947C>G	ENST00000359594.2	+	1	321	c.296C>G	c.(295-297)cCg>cGg	p.P99R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P99L(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCATTTCCCCGTCAGGCTGT	0.547													18	89					0	0	0	0	G	248636947	C	G	248636947	3	3	128	1	0	0	0	0	1	0	0	0	11094	652	23	3	298	3	OR2T3	1	248636947	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	124041	248636947	613674	31	24716	202	2									
OR2T3	343173	broad.mit.edu	37	chr1	248636948	248636948	+	Silent	SNP	G	G	T																															ggagatgataccatttccccGtcaggctgtgggatccagat																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248636948G>T	ENST00000359594.2	+	1	322	c.297G>T	c.(295-297)ccG>ccT	p.P99P		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATTTCCCCGTCAGGCTGTG	0.547													20	89					5.35356e-11	6.60477e-11	1	0	T	248636948	G	T	248636948	2	4	128	1	0	0	0	0	0	0	0	1	11094	1132	40	3		3	OR2T3	1	248636948	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	1	248636948	613673	32	24717	202	2									
PGBD2	267002	broad.mit.edu	37	chr1	249211400	249211400	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgggaaacctctcccgAttcacatcatcatcttgtgg	8	13	8	12	1	6	0	3	0	3	0	7	2	6	1	2	2	1	1	2	2	1	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:249211400A>T	ENST00000539153.1	+	4	863	c.608A>T	c.(607-609)gAt>gTt	p.D203V	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.D206V			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	206										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACCTCTCCCGATTCACATCAT	0.398													40	134					0	0	0	0	T	249211400	A	T	249211400	3	4	128	1	0	0	0	0	1	0	0	0	11853	333	12	5	623	5	PGBD2	1	249211400	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	574452	249211400	39221	33	24718											
MSH2	4436	broad.mit.edu	37	chr2	47637351	47637351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatggccagagacaggttgGagttgggtatgtggattcca	9	11	16	5	0	0	2	0	1	0	1	1	5	1	4	2	5	0	3	2	5	1	4	rs63750773		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:47637351G>T	ENST00000406134.1	+	3	547	c.485G>T	c.(484-486)gGa>gTa	p.G162V	MSH2_ENST00000233146.2_Missense_Mutation_p.G162V|MSH2_ENST00000543555.1_Missense_Mutation_p.G96V			P43246	MSH2_HUMAN	mutS homolog 2	162			G -> A (in HNPCC1).|G -> R (in HNPCC1; shows a decreased expression level of the MutS alpha complex and is associated with an abnormal subcellular localization pattern; affects protein stability; associated with an absence of the protein in tumors).		B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGACAGGTTGGAGTTGGGTAT	0.438			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				79	260					1.91123e-38	2.79734e-38	1	0	T	47637351	G	T	47637351	3	4	128	1	0	0	0	0	1	0	0	0	9940	1174	41	2	495	2	MSH2	2	47637351	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08		47637351	195562022	34	24719											
LRRTM4	80059	broad.mit.edu	37	chr2	77745754	77745754	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatgctcatactcttgcTctgcgccaggaatctgaaac	12	10	7	12	1	4	1	1	1	3	0	4	2	4	2	1	1	6	2	1	1	4	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:77745754T>A	ENST00000409088.3	-	3	1655	c.1241A>T	c.(1240-1242)gAg>gTg	p.E414V	LRRTM4_ENST00000409093.1_Missense_Mutation_p.E414V|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E414V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.E415V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.E415V	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	414						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ATACTCTTGCTCTGCGCCAGG	0.483													4	41					0	0	0	0	A	77745754	T	A	77745754	3	1	128	1	0	0	0	0	1	0	0	0	9106	1551	54	5	545	5	LRRTM4	2	77745754	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	30108403	77745754	165453619	35	24720											
LRRTM1	347730	broad.mit.edu	37	chr2	80530327	80530327	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgagcttaaacaagccGgcgaaagagttgcgcgccag	11	6	14	10	5	0	2	0	1	0	1	1	3	0	2	2	2	4	2	2	2	4	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:80530327G>T	ENST00000295057.3	-	2	1274	c.618C>A	c.(616-618)gcC>gcA	p.A206A	CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.A206A|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	206						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TAAACAAGCCGGCGAAAGAGT	0.582										HNSCC(69;0.2)			25	103					9.80776e-20	1.33253e-19	1	0	T	80530327	G	T	80530327	2	4	128	1	0	0	0	0	0	0	0	1	9103	1103	39	3		3	LRRTM1	2	80530327	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	2784573	80530327	162669046	36	24721											
RIF1	55183	broad.mit.edu	37	chr2	152320477	152320477	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggagaatttaattgagaaAggaagtaatttacatgagaa	19	10	10	2	0	0	3	0	2	0	3	0	7	0	4	0	2	1	1	0	2	7	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:152320477A>G	ENST00000243326.4	+	29	4926	c.4443A>G	c.(4441-4443)aaA>aaG	p.K1481K	RIF1_ENST00000444746.2_Silent_p.K1481K|RIF1_ENST00000430328.2_Silent_p.K1481K|RIF1_ENST00000453091.2_Silent_p.K1481K|RIF1_ENST00000428287.2_Silent_p.K1481K			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1481					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAATTGAGAAAGGAAGTAATT	0.348													21	83					0	0	0	0	G	152320477	A	G	152320477	2	3	128	1	0	0	0	0	0	0	0	1	13442	69	3	5		5	RIF1	2	152320477	Silent	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	71790150	152320477	90878896	37	24722											
ACVR1C	130399	broad.mit.edu	37	chr2	158412844	158412844	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttggggcatttggtgatGctacagtttaaagaagaaag	12	13	13	3	0	0	3	0	1	0	2	0	3	0	3	0	3	2	4	0	3	5	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:158412844G>A	ENST00000243349.7	-	3	665	c.304_splice	c.e3-1	p.A102_splice	ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000335450.7_Intron|ACVR1C_ENST00000409680.3_Splice_Site_p.A52_splice	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	102					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATTTGGTGATGCTACAGTTTA	0.403													24	73					0	0	0	0	A	158412844	G	A	158412844	5	1	128	1	0	0	0	0	0	0	1	0	222	1333	46	4	1204	4	ACVR1C	2	158412844	Splice_Site	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	6092367	158412844	84786529	38	24723											
PKP4	8502	broad.mit.edu	37	chr2	159389730	159389730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcaggcctcattggtggagGaggggcaaccacagacccgc	10	4	15	12	1	1	1	1	0	0	1	1	3	1	3	3	6	2	2	3	6	1	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:159389730G>A	ENST00000389757.3	+	2	159	c.34G>A	c.(34-36)Gag>Aag	p.E12K	PKP4_ENST00000389759.3_Missense_Mutation_p.E12K	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	12					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ATTGGTGGAGGAGGGGCAACC	0.587										HNSCC(62;0.18)			4	24					0	0	0	0	A	159389730	G	A	159389730	3	1	128	1	0	0	0	0	1	0	0	0	12059	1175	41	2	36	2	PKP4	2	159389730	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	976886	159389730	83809643	39	24724											
SESTD1	91404	broad.mit.edu	37	chr2	179997067	179997067	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctcttcgtgtttctgctgTagggcctgggaggccctaat	5	14	12	10	1	2	0	0	0	2	0	4	1	2	1	2	3	1	3	2	3	2	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:179997067T>C	ENST00000428443.3	-	10	1252	c.936A>G	c.(934-936)ctA>ctG	p.L312L		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	312					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTTTCTGCTGTAGGGCCTGGG	0.473													88	304					0	0	0	0	C	179997067	T	C	179997067	2	2	128	1	0	0	0	0	0	0	0	1	14214	1625	57	5		5	SESTD1	2	179997067	Silent	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	20607337	179997067	63202306	40	24725											
SPEG	10290	broad.mit.edu	37	chr2	220309794	220309794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctaatctggtgggcgcaagCtgggggtcagaggatagcct	8	8	17	8	1	2	1	1	0	1	1	2	2	2	2	1	5	2	3	1	5	3	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:220309794C>G	ENST00000312358.7	+	3	858	c.726C>G	c.(724-726)agC>agG	p.S242R	SPEG_ENST00000396695.2_Intron|SPEG_ENST00000396698.1_Missense_Mutation_p.S138R	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	242					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGGCGCAAGCTGGGGGTCAG	0.657													3	19					0	0	0	0	G	220309794	C	G	220309794	3	3	128	1	0	0	0	0	1	0	0	0	15126	796	28	4	736	4	SPEG	2	220309794	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	40312727	220309794	22889579	41	24726											
CCR3	1232	broad.mit.edu	37	chr3	46307076	46307076	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatgctgtgtttgcccttCgagcccggactgtcactttt	4	15	9	13	2	1	0	1	0	0	0	3	2	2	1	3	1	3	2	3	1	0	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:46307076C>T	ENST00000357422.2	+	4	970	c.427C>T	c.(427-429)Cga>Tga	p.R143*	CCR3_ENST00000545097.1_Nonsense_Mutation_p.R164*|CCR3_ENST00000541018.1_Nonsense_Mutation_p.R143*|CCR3_ENST00000395940.2_Nonsense_Mutation_p.R143*|CCR3_ENST00000395942.2_Nonsense_Mutation_p.R143*			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	143					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTTTGCCCTTCGAGCCCGGAC	0.498													16	65					0	0	0	0	T	46307076	C	T	46307076	4	4	128	1	0	0	0	0	0	1	0	0	2971	876	31	1	496	1	CCR3	3	46307076	Nonsense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08		46307076	151715354	42	24727											
RHOA	387	broad.mit.edu	37	chr3	49412914	49412914	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatagttctcaaacactgTgggcacatacacctctggga	12	9	8	12	0	2	0	1	0	2	0	3	1	2	1	1	2	2	2	1	2	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:49412914T>A	ENST00000418115.1	-	2	493	c.109A>T	c.(109-111)Aca>Tca	p.T37S	RHOA_ENST00000422781.1_Missense_Mutation_p.T37S|RHOA_ENST00000454011.2_Missense_Mutation_p.T37S	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	37					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TCAAACACTGTGGGCACATAC	0.438													49	85					0	0	0	0	A	49412914	T	A	49412914	3	1	128	1	0	0	0	0	1	0	0	0	13414	1696	59	5	488	5	RHOA	3	49412914	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	3105838	49412914	148609516	43	24728											
GRM2	2912	broad.mit.edu	37	chr3	51746762	51746762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggccacctcggagaaagtgGgccgtgccatgagccgcgcg	7	5	16	13	5	0	2	0	1	0	1	1	3	0	2	5	3	2	0	5	3	1	0			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:51746762G>T	ENST00000395052.3	+	3	958	c.724G>T	c.(724-726)Ggc>Tgc	p.G242C	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.G242C	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	242					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGAGAAAGTGGGCCGTGCCAT	0.642													14	24					4.36969e-10	5.25015e-10	1	0	T	51746762	G	T	51746762	3	4	128	1	0	0	0	0	1	0	0	0	6847	1232	43	4	730	4	GRM2	3	51746762	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	2333848	51746762	146275668	44	24729											
STAB1	23166	broad.mit.edu	37	chr3	52556869	52556869	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttccctgtggcggacTgtggcaatggtcgggtgggc	3	12	18	8	2	0	0	0	0	0	0	2	1	1	1	1	7	0	2	1	7	1	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:52556869T>A	ENST00000321725.6	+	62	6899	c.6823T>A	c.(6823-6825)Tgt>Agt	p.C2275S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2275	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGTGGCGGACTGTGGCAATGG	0.622													34	64					0	0	0	0	A	52556869	T	A	52556869	3	1	128	1	0	0	0	0	1	0	0	0	15327	1580	55	5	7069	5	STAB1	3	52556869	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	810107	52556869	145465561	45	24730											
ERC2	26059	broad.mit.edu	37	chr3	56026129	56026129	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttgtcattcttctcattCtccacctccttgaggatctc	5	17	4	15	0	5	1	2	1	4	0	10	2	7	2	4	1	0	0	4	1	0	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:56026129C>G	ENST00000288221.6	-	11	2466	c.2211G>C	c.(2209-2211)gaG>gaC	p.E737D		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	737						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTTCTCATTCTCCACCTCCT	0.468													18	144					0	0	0	0	G	56026129	C	G	56026129	3	3	128	1	0	0	0	0	1	0	0	0	5249	912	32	2	680	2	ERC2	3	56026129	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	3469260	56026129	141996301	46	24731											
CNTN3	5067	broad.mit.edu	37	chr3	74474089	74474089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggttttaaaattttcaaGatctgatttgaaaacaaaac	16	16	5	4	0	2	3	1	2	1	1	2	3	2	3	0	1	2	1	0	1	7	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:74474089G>T	ENST00000263665.6	-	4	388	c.361C>A	c.(361-363)Ctt>Att	p.L121I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	121					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAATTTTCAAGATCTGATTTG	0.383													4	3					0.00024832	0.000262161	1	0	T	74474089	G	T	74474089	3	4	128	1	0	0	0	0	1	0	0	0	3672	942	33	2	2801	2	CNTN3	3	74474089	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	18447960	74474089	123548341	47	24732											
CEP97	79598	broad.mit.edu	37	chr3	101451477	101451477	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcagagtcctagatggatAtgtgatttctcagaaggaaa	13	11	10	7	0	2	4	2	1	1	3	4	6	3	6	2	2	0	0	2	2	4	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:101451477A>G	ENST00000341893.3	+	6	1459	c.707A>G	c.(706-708)tAt>tGt	p.Y236C	CEP97_ENST00000494050.1_Missense_Mutation_p.Y236C|CEP97_ENST00000462076.1_3'UTR|CEP97_ENST00000327230.4_Missense_Mutation_p.Y236C			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	236	LRRCT.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CTAGATGGATATGTGATTTCT	0.398													48	67					0	0	0	0	G	101451477	A	G	101451477	3	3	128	1	0	0	0	0	1	0	0	0	3292	449	16	5	729	5	CEP97	3	101451477	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	26977388	101451477	96570953	48	24733											
MORC1	27136	broad.mit.edu	37	chr3	108812287	108812287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaaacacacacatactcctCcagagctccagccatcagta	14	7	4	16	0	2	1	2	0	0	1	5	1	5	1	4	0	4	2	4	0	3	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:108812287C>T	ENST00000232603.5	-	8	767	c.685G>A	c.(685-687)Gag>Aag	p.E229K	MORC1_ENST00000483760.1_Missense_Mutation_p.E229K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	229					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACATACTCCTCCAGAGCTCCA	0.433													13	89					0	0	0	0	T	108812287	C	T	108812287	3	4	128	1	0	0	0	0	1	0	0	0	9771	864	30	2	2353	2	MORC1	3	108812287	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	7360810	108812287	89210143	49	24734											
CD86	942	broad.mit.edu	37	chr3	121825286	121825286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgatgttacgagcaatatGaccatcttctgtattctgga	10	14	8	9	1	3	2	0	2	3	0	3	4	3	3	2	1	2	3	2	1	4	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:121825286G>A	ENST00000330540.2	+	4	758	c.642G>A	c.(640-642)atG>atA	p.M214I	CD86_ENST00000469710.1_Missense_Mutation_p.M132I|CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Missense_Mutation_p.M102I|CD86_ENST00000393627.2_Missense_Mutation_p.M208I	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	214	Ig-like C2-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	p.M214I(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CGAGCAATATGACCATCTTCT	0.393													23	515					0	0	0	0	A	121825286	G	A	121825286	3	1	128	1	0	0	0	0	1	0	0	0	3072	1290	45	2	656	2	CD86	3	121825286	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	13012999	121825286	76197144	50	24735											
ADCY5	111	broad.mit.edu	37	chr3	123005539	123005539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgcactcacctggatgCggtcgggtacaccggtgctg	5	9	13	14	3	1	0	1	0	0	0	3	1	2	1	3	4	4	3	3	4	1	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:123005539C>A	ENST00000462833.1	-	20	4862	c.3650G>T	c.(3649-3651)cGc>cTc	p.R1217L	ADCY5_ENST00000491190.1_Missense_Mutation_p.R875L|ADCY5_ENST00000309879.5_Missense_Mutation_p.R867L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1217					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CACCTGGATGCGGTCGGGTAC	0.632											OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	105					8.12818e-05	8.7828e-05	1	0	A	123005539	C	A	123005539	3	1	128	1	0	0	0	0	1	0	0	0	297	768	27	3	143	3	ADCY5	3	123005539	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	1180253	123005539	75016891	51	24736											
NEK11	79858	broad.mit.edu	37	chr3	130947448	130947448	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattgtgaagagagtgatgaGgaggaagaagaaatagcgtt	16	9	15	1	1	0	6	0	3	0	3	0	9	0	8	0	2	1	1	0	2	6	4	rs145914506		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:130947448G>A	ENST00000383366.4	+	15	1769	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	NEK11_ENST00000510769.1_Silent_p.E387E|NEK11_ENST00000510688.1_Silent_p.E492E|NEK11_ENST00000429253.2_Silent_p.E492E|NEK11_ENST00000508196.1_Silent_p.E492E|NEK11_ENST00000412440.2_Silent_p.E308E	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	492			E -> K (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGAGTGATGAGGAGGAAGAAG	0.433													17	314					0	0	0	0	A	130947448	G	A	130947448	2	1	128	1	0	0	0	0	0	0	0	1	10393	991	35	4		4	NEK11	3	130947448	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	7941909	130947448	67074982	52	24737											
STAG1	10274	broad.mit.edu	37	chr3	136240236	136240236	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccactgaggtccaggcatGgtaagaggataatcaccact	12	9	10	10	0	1	2	1	1	0	1	3	3	3	3	3	4	0	2	3	4	2	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:136240236G>C	ENST00000383202.2	-	7	751	c.495C>G	c.(493-495)acC>acG	p.T165T	STAG1_ENST00000480733.1_Silent_p.T165T|STAG1_ENST00000236698.5_Silent_p.T165T|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	165					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTCCAGGCATGGTAAGAGGAT	0.333													9	129					0	0	0	0	C	136240236	G	C	136240236	2	2	128	1	0	0	0	0	0	0	0	1	15332	1335	47	4		4	STAG1	3	136240236	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	5292788	136240236	61782194	53	24738											
PCOLCE2	26577	broad.mit.edu	37	chr3	142561853	142561853	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggttttaaaagagccGgaaggtctgtcaaggagtcc	10	10	15	6	1	2	1	1	0	1	1	3	3	3	3	2	5	1	1	2	5	4	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:142561853G>A	ENST00000295992.3	-	4	792	c.486C>T	c.(484-486)tcC>tcT	p.S162S	PCOLCE2_ENST00000485766.1_Silent_p.S162S	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	162	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TAAAAGAGCCGGAAGGTCTGT	0.473													5	187					0	0	0	0	A	142561853	G	A	142561853	2	1	128	1	0	0	0	0	0	0	0	1	11666	1103	39	1		1	PCOLCE2	3	142561853	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	6321617	142561853	55460577	54	24739											
ZIC1	7545	broad.mit.edu	37	chr3	147131305	147131305	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacagccggccacagtgcGctctcttccaattttaacga	10	9	7	15	3	1	0	0	0	1	0	3	1	2	0	3	1	3	1	3	1	2	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:147131305G>T	ENST00000282928.4	+	3	2040	c.1311G>T	c.(1309-1311)gcG>gcT	p.A437A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	437	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCACAGTGCGCTCTCTTCCA	0.493													10	117					0.000673444	0.000701777	1	0	T	147131305	G	T	147131305	2	4	128	1	0	0	0	0	0	0	0	1	17773	1074	38	3		3	ZIC1	3	147131305	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	4569452	147131305	50891125	55	24740											
SLITRK3	22865	broad.mit.edu	37	chr3	164905727	164905727	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggacttcgaggtaatcCggcttggtttgaagtttggc	7	13	13	8	2	0	1	0	1	0	0	3	3	2	2	2	5	0	4	2	5	2	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:164905727C>A	ENST00000475390.1	-	2	3335	c.2892G>T	c.(2890-2892)ccG>ccT	p.P964P	SLITRK3_ENST00000241274.3_Silent_p.P964P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	964						integral to membrane		p.P964P(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CGAGGTAATCCGGCTTGGTTT	0.393										HNSCC(40;0.11)			130	150					6.63188e-95	9.84085e-95	1	0	A	164905727	C	A	164905727	2	1	128	1	0	0	0	0	0	0	0	1	14832	639	23	3		3	SLITRK3	3	164905727	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	17774422	164905727	33116703	56	24741											
SLITRK3	22865	broad.mit.edu	37	chr3	164907600	164907600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagggtggccttggtgttCgaggctgtttggtgggctta	3	14	19	5	1	0	0	0	0	0	0	1	2	0	1	1	7	0	4	1	7	1	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:164907600C>T	ENST00000475390.1	-	2	1462	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R340Q			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	340						integral to membrane		p.R340L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTGGTGTTCGAGGCTGTTT	0.483										HNSCC(40;0.11)			179	210					0	0	0	0	T	164907600	C	T	164907600	3	4	128	1	0	0	0	0	1	0	0	0	14832	884	31	1	1918	1	SLITRK3	3	164907600	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	1873	164907600	33114830	57	24742											
MRPL47	57129	broad.mit.edu	37	chr3	179311660	179311660	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcctggacaactttatcTaatgcatccatggaatctac	11	14	5	11	0	2	0	0	0	2	0	4	2	4	2	2	2	3	1	2	2	5	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:179311660T>C	ENST00000476781.1	-	5	455	c.426A>G	c.(424-426)ttA>ttG	p.L142L	MRPL47_ENST00000392659.2_Silent_p.L32L|MRPL47_ENST00000259038.2_Silent_p.L122L	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	142					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CAACTTTATCTAATGCATCCA	0.373													100	126					0	0	0	0	C	179311660	T	C	179311660	2	2	128	1	0	0	0	0	0	0	0	1	9881	1519	53	5		5	MRPL47	3	179311660	Silent	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	14404060	179311660	18710770	58	24743											
DGKG	1608	broad.mit.edu	37	chr3	185970889	185970889	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catgcaaactcacctcctccCcagcggagacaacgggcaag	12	4	9	16	2	1	1	1	0	0	1	3	2	3	1	4	2	4	2	4	2	3	0			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:185970889C>G	ENST00000265022.3	-	18	2132	c.1593G>C	c.(1591-1593)tgG>tgC	p.W531C	DGKG_ENST00000544847.1_Missense_Mutation_p.W472C|DGKG_ENST00000344484.4_Missense_Mutation_p.W506C|DGKG_ENST00000382164.4_Missense_Mutation_p.W492C	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	531	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CACCTCCTCCCCAGCGGAGAC	0.517													5	209					0	0	0	0	G	185970889	C	G	185970889	3	3	128	1	0	0	0	0	1	0	0	0	4506	624	22	4	814	4	DGKG	3	185970889	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	6659229	185970889	12051541	59	24744											
ATP13A3	79572	broad.mit.edu	37	chr3	194167833	194167833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagactcgataattatgacCccaacttgtacctacaatta	15	11	5	10	1	0	2	0	1	0	1	1	4	0	2	3	0	3	1	3	0	7	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:194167833C>T	ENST00000439040.1	-	14	2111	c.1320G>A	c.(1318-1320)ggG>ggA	p.G440G	ATP13A3_ENST00000256031.4_Silent_p.G440G			Q9H7F0	AT133_HUMAN	ATPase type 13A3	440					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TAATTATGACCCCAACTTGTA	0.368													19	95					0	0	0	0	T	194167833	C	T	194167833	2	4	128	1	0	0	0	0	0	0	0	1	1129	610	22	4		4	ATP13A3	3	194167833	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	8196944	194167833	3854597	60	24745											
ATP13A3	79572	broad.mit.edu	37	chr3	194181535	194181535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactatggcaagcttccagCgactcaaattgtaaccataa	16	9	6	10	1	1	0	1	0	0	0	2	1	2	0	2	1	4	3	2	1	6	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:194181535C>G	ENST00000439040.1	-	4	868	c.77G>C	c.(76-78)cGc>cCc	p.R26P	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R26P			Q9H7F0	AT133_HUMAN	ATPase type 13A3	26					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAGCTTCCAGCGACTCAAATT	0.433													20	145					0	0	0	0	G	194181535	C	G	194181535	3	3	128	1	0	0	0	0	1	0	0	0	1129	768	27	3	3723	3	ATP13A3	3	194181535	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	13702	194181535	3840895	61	24746											
TAPT1	202018	broad.mit.edu	37	chr4	16188493	16188493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaccattataagaattgCatgcaaaactaatagaaggt	18	11	7	5	0	0	3	0	1	0	2	0	3	0	3	1	1	4	2	1	1	9	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:16188493C>T	ENST00000405303.2	-	6	840	c.757G>A	c.(757-759)Gca>Aca	p.A253T	TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000304584.8_Intron|TAPT1_ENST00000399920.3_Missense_Mutation_p.A142T	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	253						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						ATAAGAATTGCATGCAAAACT	0.274													7	60					0	0	0	0	T	16188493	C	T	16188493	3	4	128	1	0	0	0	0	1	0	0	0	15645	710	25	4	982	4	TAPT1	4	16188493	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08		16188493	174965783	62	24747											
SLIT2	9353	broad.mit.edu	37	chr4	20530616	20530616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taagtggagactgctttgcgGatctggcttgccctgaaaag	9	11	13	8	1	1	2	0	1	1	1	1	4	1	3	1	3	3	2	1	3	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:20530616G>T	ENST00000504154.1	+	16	1759	c.1507G>T	c.(1507-1509)Gat>Tat	p.D503Y	SLIT2_ENST00000503823.1_Missense_Mutation_p.D495Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.D507Y|SLIT2_ENST00000503837.1_Missense_Mutation_p.D499Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	503	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTGCTTTGCGGATCTGGCTTG	0.398													12	99					0.010729	0.0110024	1	0	T	20530616	G	T	20530616	3	4	128	1	0	0	0	0	1	0	0	0	14828	1174	41	2	1569	2	SLIT2	4	20530616	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	4342123	20530616	170623660	63	24748											
SLIT2	9353	broad.mit.edu	37	chr4	20619089	20619089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggcacctgcttgcccatCaatgcgttctcctacagctg	7	11	8	15	1	2	0	1	0	1	0	3	0	2	0	3	1	5	4	3	1	2	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:20619089C>T	ENST00000504154.1	+	36	4416	c.4164C>T	c.(4162-4164)atC>atT	p.I1388I	SLIT2_ENST00000503823.1_Silent_p.I1380I|SLIT2_ENST00000273739.5_Silent_p.I1401I|SLIT2_ENST00000503837.1_Silent_p.I1384I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1388					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCTTGCCCATCAATGCGTTCT	0.512													13	48					0	0	0	0	T	20619089	C	T	20619089	2	4	128	1	0	0	0	0	0	0	0	1	14828	816	29	2		2	SLIT2	4	20619089	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	88473	20619089	170535187	64	24749											
GRXCR1	389207	broad.mit.edu	37	chr4	42895299	42895299	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccatgcttaaaagggagAtgaagccagaaagtgacagg	16	6	13	6	0	0	5	0	3	0	2	0	6	0	5	2	2	2	1	2	2	4	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:42895299A>T	ENST00000399770.2	+	1	16	c.16A>T	c.(16-18)Atg>Ttg	p.M6L		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	6					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TAAAAGGGAGATGAAGCCAGA	0.502													22	36					0	0	0	0	T	42895299	A	T	42895299	3	4	128	1	0	0	0	0	1	0	0	0	6862	333	12	5	18	5	GRXCR1	4	42895299	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	22276210	42895299	148258977	65	24750											
KDR	3791	broad.mit.edu	37	chr4	55976567	55976568	+	Splice_Site	DEL	CA	CA	-																															agaggaaaattgaatggactCaccatacacaaccagagaga																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:55976567_55976568delCA	ENST00000263923.4	-	9	1551		c.e9+1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGAATGGACTCACCATACACAA	0.441			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			18	74	---	---	---	---					-	55976568	CA	-	55976567	8	5	128	1	0	1	0	1	0	0	1	0	8191	841	29	0		0	KDR	4	55976567	Splice_Site	DEL	CA	TCGA-CN-A6V3-01A-12D-A34J-08	13081268	55976567	135177709	66	24751											
LPHN3	23284	broad.mit.edu	37	chr4	62894575	62894575	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctatgcattctttagctAtgaggataacagacccttca	11	14	7	9	0	3	2	1	1	2	1	3	3	3	3	1	1	3	2	1	1	4	7			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:62894575A>T	ENST00000512091.1	+	21	3941	c.3194A>T	c.(3193-3195)tAt>tTt	p.Y1065F	LPHN3_ENST00000507164.1_Intron|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y1133F|LPHN3_ENST00000514996.1_Intron|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y1133F|LPHN3_ENST00000514591.1_Missense_Mutation_p.Y1065F|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y1065F|LPHN3_ENST00000506700.1_Intron|LPHN3_ENST00000507625.1_Intron|LPHN3_ENST00000511324.1_Intron|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y1133F|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y1065F|LPHN3_ENST00000506746.1_Intron|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y1065F|LPHN3_ENST00000514157.1_Intron			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1049					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTCTTTAGCTATGAGGATAAC	0.388													6	22					0	0	0	0	T	62894575	A	T	62894575	3	4	128	1	0	0	0	0	1	0	0	0	8981	449	16	5	3268	5	LPHN3	4	62894575	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	6918008	62894575	128259701	67	24752											
ENAM	10117	broad.mit.edu	37	chr4	71508279	71508279	+	Missense_Mutation	SNP	A	A	G																															tcgtccaggaaatccagtttAtcacaaagcttaccctccta																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:71508279A>G	ENST00000396073.3	+	9	1417	c.1136A>G	c.(1135-1137)tAt>tGt	p.Y379C	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	379					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCCAGTTTATCACAAAGCT	0.433													47	144					0	0	0	0	G	71508279	A	G	71508279	3	3	128	1	0	0	0	0	1	0	0	0	5150	449	16	5	1166	5	ENAM	4	71508279	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	8613704	71508279	119645997	68	24753	203	2									
ENAM	10117	broad.mit.edu	37	chr4	71508287	71508287	+	Missense_Mutation	SNP	G	G	C																															gaaatccagtttatcacaaaGcttaccctcctacttcaaga																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:71508287G>C	ENST00000396073.3	+	9	1425	c.1144G>C	c.(1144-1146)Gct>Cct	p.A382P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	382					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TTATCACAAAGCTTACCCTCC	0.433													45	145					0	0	0	0	C	71508287	G	C	71508287	3	2	128	1	0	0	0	0	1	0	0	0	5150	971	34	4	1174	4	ENAM	4	71508287	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	8	71508287	119645989	69	24754	203	2									
NPFFR2	10886	broad.mit.edu	37	chr4	73013163	73013163	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaatgatgctctcagactaCgctgacctttctccaaatga	11	12	6	12	1	2	4	1	3	2	1	4	4	2	4	2	0	2	2	2	0	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:73013163C>G	ENST00000308744.6	+	4	1301	c.1203C>G	c.(1201-1203)taC>taG	p.Y401*	NPFFR2_ENST00000358749.3_Nonsense_Mutation_p.Y299*|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Nonsense_Mutation_p.Y302*|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	401					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)			TCTCAGACTACGCTGACCTTT	0.468													21	95					0	0	0	0	G	73013163	C	G	73013163	4	3	128	1	0	0	0	0	0	1	0	0	10648	547	19	3	1223	3	NPFFR2	4	73013163	Nonsense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	1504876	73013163	118141113	70	24755											
CXCL9	4283	broad.mit.edu	37	chr4	76928538	76928538	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctaactcagaaccccttaCcttgcactccaatcagaacc	13	8	3	17	0	2	2	2	0	0	2	3	2	3	2	6	0	5	1	6	0	5	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:76928538C>T	ENST00000264888.5	-	1	103		c.e1+1			NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9						cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAACCCCTTACCTTGCACTCC	0.408													46	147					0	0	0	0	T	76928538	C	T	76928538	5	4	128	1	0	0	0	0	0	0	1	0	4121	521	18	4	328	4	CXCL9	4	76928538	Splice_Site	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	3915375	76928538	114225738	71	24756											
FRAS1	80144	broad.mit.edu	37	chr4	79393380	79393380	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctgaccatggacccagAcaccgaggacgcgcagcttg	10	5	12	14	3	0	2	0	1	0	1	0	5	0	4	3	2	2	3	3	2	0	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:79393380A>T	ENST00000264895.6	+	52	7858	c.7418A>T	c.(7417-7419)gAc>gTc	p.D2473V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2472					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGACCCAGACACCGAGGAC	0.507													15	63					0	0	0	0	T	79393380	A	T	79393380	3	4	128	1	0	0	0	0	1	0	0	0	6089	275	10	5	7699	5	FRAS1	4	79393380	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	2464842	79393380	111760896	72	24757											
PDHA2	5161	broad.mit.edu	37	chr4	96761769	96761769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgcatatgtataccaaGaacttctatgggggcaatgg	12	11	11	7	1	1	1	0	0	1	1	2	2	1	1	1	3	3	3	1	3	7	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:96761769G>T	ENST00000295266.4	+	1	531	c.468G>T	c.(466-468)aaG>aaT	p.K156N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	156					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TGTATACCAAGAACTTCTATG	0.507													40	77					4.90274e-10	5.86871e-10	1	0	T	96761769	G	T	96761769	3	4	128	1	0	0	0	0	1	0	0	0	11736	933	33	2	470	2	PDHA2	4	96761769	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	17368389	96761769	94392507	73	24758											
DCHS2	54798	broad.mit.edu	37	chr4	155156860	155156860	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaagggtgttccttcagAggagaaagacacattcacaa	14	8	10	9	0	2	3	2	0	0	3	3	4	3	3	2	2	1	1	2	2	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:155156860A>T	ENST00000357232.3	-	25	7578	c.7579T>A	c.(7579-7581)Tct>Act	p.S2527T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2527	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTCCTTCAGAGGAGAAAGAC	0.408													14	68					0	0	0	0	T	155156860	A	T	155156860	3	4	128	1	0	0	0	0	1	0	0	0	4320	304	11	5	1175	5	DCHS2	4	155156860	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	58395091	155156860	35997416	74	24759											
CTSO	1519	broad.mit.edu	37	chr4	156849502	156849502	+	Frame_Shift_Del	DEL	C	C	-																															acttaccacaaacattacttCccattttgacatgggcataa																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:156849502delC	ENST00000433477.3	-	7	986	c.917delG	c.(916-918)gafs	p.G306fs		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	306					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		AACATTACTTCCCATTTTGAC	0.348													19	106	---	---	---	---					-	156849502	C	-	156849502	7	5	128	1	0	1	0	1	0	0	0	0	4072	855	30	0	56	0	CTSO	4	156849502	Frame_Shift_Del	DEL	C	TCGA-CN-A6V3-01A-12D-A34J-08	1692642	156849502	34304774	75	24760											
SORBS2	8470	broad.mit.edu	37	chr4	186567895	186567895	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttggctcagaccgaaatTttcttgtgtccacttttctg	6	17	7	11	1	3	1	1	0	2	1	5	2	5	1	3	1	0	1	3	1	1	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:186567895T>A	ENST00000431808.1	-	11	1174	c.611A>T	c.(610-612)aAa>aTa	p.K204I	SORBS2_ENST00000355634.5_Missense_Mutation_p.K304I|SORBS2_ENST00000284776.7_Missense_Mutation_p.K204I|SORBS2_ENST00000319471.9_Missense_Mutation_p.K290I|SORBS2_ENST00000393528.3_Missense_Mutation_p.K250I|SORBS2_ENST00000418609.1_Missense_Mutation_p.K108I|SORBS2_ENST00000448662.2_Missense_Mutation_p.K273I|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000437304.2_Missense_Mutation_p.K383I|SORBS2_ENST00000449407.2_Missense_Mutation_p.K275I			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	204						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGACCGAAATTTTCTTGTGTC	0.353													42	116					0	0	0	0	A	186567895	T	A	186567895	3	1	128	1	0	0	0	0	1	0	0	0	15016	1841	64	5	3051	5	SORBS2	4	186567895	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	29718393	186567895	4586381	76	24761											
DNAH5	1767	broad.mit.edu	37	chr5	13716792	13716792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtagcggatggtggtccagGagacaccctgggaaatttta	10	10	14	7	1	0	1	0	0	0	1	1	4	1	3	2	5	1	1	2	5	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:13716792G>T	ENST00000265104.4	-	74	12817	c.12713C>A	c.(12712-12714)tCc>tAc	p.S4238Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4238					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTGGTCCAGGAGACACCCTG	0.408									Kartagener syndrome				14	59					4.3838e-07	4.91841e-07	1	0	T	13716792	G	T	13716792	3	4	128	1	0	0	0	0	1	0	0	0	4641	1174	41	2	1185	2	DNAH5	5	13716792	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08		13716792	167198468	77	24762											
TRIO	7204	broad.mit.edu	37	chr5	14419991	14419991	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accgtggaagttctggagcgGccgcatgacaagcctgactg	9	7	14	11	3	1	2	0	2	1	0	1	4	1	4	3	3	2	2	3	3	2	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:14419991G>T	ENST00000344204.4	+	34	5088	c.5064G>T	c.(5062-5064)cgG>cgT	p.R1688R	TRIO_ENST00000537187.1_Silent_p.R1688R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1688	SH3 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTCTGGAGCGGCCGCATGACA	0.622													23	21					6.44725e-10	7.68895e-10	1	0	T	14419991	G	T	14419991	2	4	128	1	0	0	0	0	0	0	0	1	16647	1190	42	4		4	TRIO	5	14419991	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	703199	14419991	166495269	78	24763											
PRDM9	56979	broad.mit.edu	37	chr5	23524474	23524474	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccgggatgatgaagagCagaacctggtggccttccag	9	7	15	10	1	0	4	0	2	0	2	1	5	1	5	4	3	3	1	4	3	2	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:23524474C>T	ENST00000296682.3	+	10	1164	c.982C>T	c.(982-984)Cag>Tag	p.Q328*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	328	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGATGAAGAGCAGAACCTGGT	0.527										HNSCC(3;0.000094)			24	106					0	0	0	0	T	23524474	C	T	23524474	4	4	128	1	0	0	0	0	0	1	0	0	12543	711	25	4	1016	4	PRDM9	5	23524474	Nonsense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	9104483	23524474	157390786	79	24764											
CDC20B	166979	broad.mit.edu	37	chr5	54420831	54420831	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctacccgaacatcgtgatGataaacacgccccagtcttg	11	8	9	13	3	1	2	0	2	1	0	2	3	1	2	3	1	3	1	3	1	4	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:54420831G>C	ENST00000334206.5	-	10	1277	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	CDC20B_ENST00000322374.6_Missense_Mutation_p.H339D|CDC20B_ENST00000296733.1_Missense_Mutation_p.H339D|CDC20B_ENST00000381375.2_Missense_Mutation_p.H339D			Q86Y33	CD20B_HUMAN	cell division cycle 20B	0										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ACATCGTGATGATAAACACGC	0.468													12	117					0	0	0	0	C	54420831	G	C	54420831	3	2	128	1	0	0	0	0	1	0	0	0	3089	1290	45	2	560	2	CDC20B	5	54420831	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	30896357	54420831	126494429	80	24765											
MAP1B	4131	broad.mit.edu	37	chr5	71495356	71495356	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggcatccacatattcCtacgagacttcagacctatg	11	10	6	14	1	2	2	2	0	0	2	4	3	4	2	4	1	1	1	4	1	3	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:71495356C>A	ENST00000296755.7	+	5	6472	c.6174C>A	c.(6172-6174)tcC>tcA	p.S2058S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2058						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCACATATTCCTACGAGACTT	0.468													19	118					5.3912e-06	5.96552e-06	1	0	A	71495356	C	A	71495356	2	1	128	1	0	0	0	0	0	0	0	1	9297	668	24	4		4	MAP1B	5	71495356	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	17074525	71495356	109419904	81	24766											
STARD4	134429	broad.mit.edu	37	chr5	110835647	110835647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccatggctgtatctacCgcagactgaggaatcatccc	9	10	9	13	1	2	2	1	1	1	1	3	3	3	3	3	2	2	3	3	2	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:110835647C>T	ENST00000296632.3	-	6	689	c.555G>A	c.(553-555)gcG>gcA	p.A185A	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	185	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CTGTATCTACCGCAGACTGAG	0.413													58	85					0	0	0	0	T	110835647	C	T	110835647	2	4	128	1	0	0	0	0	0	0	0	1	15349	639	23	1		1	STARD4	5	110835647	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	39340291	110835647	70079613	82	24767											
MEGF10	84466	broad.mit.edu	37	chr5	126753414	126753414	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatgttctcctggattctaCggggaagcttgccagcagat	9	11	11	10	1	2	1	0	0	2	1	3	3	2	3	2	3	4	3	2	3	2	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:126753414C>T	ENST00000274473.6	+	11	1482	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	MEGF10_ENST00000508365.1_Silent_p.Y405Y|MEGF10_ENST00000503335.2_Silent_p.Y405Y|MEGF10_ENST00000418761.2_Silent_p.Y405Y	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	405	EGF-like 7.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGGATTCTACGGGGAAGCTT	0.542													71	95					0	0	0	0	T	126753414	C	T	126753414	2	4	128	1	0	0	0	0	0	0	0	1	9529	547	19	1		1	MEGF10	5	126753414	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	15917767	126753414	54161846	83	24768											
PCDHB16	57717	broad.mit.edu	37	chr5	140562409	140562409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaatgagaagctagatcGagaggagctatgcggtccca	14	7	12	8	2	0	3	0	1	0	3	2	6	1	4	1	2	3	2	1	2	5	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:140562409G>T	ENST00000361016.2	+	1	1430	c.275G>T	c.(274-276)cGa>cTa	p.R92L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		92	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCTAGATCGAGAGGAGCTA	0.463													4	72					0.014758	0.0150382	1	0	T	140562409	G	T	140562409	3	4	128	1	0	0	0	0	1	0	0	0	11612	1058	37	3	277	3	PCDHB16	5	140562409	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	13808995	140562409	40352851	84	24769											
DOCK2	1794	broad.mit.edu	37	chr5	169506071	169506071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctgaggtcaagctgcGgaggtccaagaagaggacaa	12	5	14	10	1	1	3	1	1	0	2	2	5	2	5	3	4	3	1	3	4	4	0			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:169506071G>T	ENST00000256935.8	+	49	5167	c.5087G>T	c.(5086-5088)cGg>cTg	p.R1696L	DOCK2_ENST00000520908.1_Missense_Mutation_p.R1188L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.R757L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1696					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCAAGCTGCGGAGGTCCAAG	0.572													40	54					2.40579e-17	3.20109e-17	1	0	T	169506071	G	T	169506071	3	4	128	1	0	0	0	0	1	0	0	0	4723	1116	39	3	5281	3	DOCK2	5	169506071	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	28943662	169506071	11409189	85	24770											
NSD1	64324	broad.mit.edu	37	chr5	176638400	176638400	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctacctggcttactgtcCgacaagagagacctccctgc	8	9	8	16	1	0	2	0	0	0	2	3	4	3	2	5	1	3	1	5	1	3	2	rs150854966	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:176638400C>T	ENST00000439151.2	+	5	3045	c.3000C>T	c.(2998-3000)tcC>tcT	p.S1000S	NSD1_ENST00000361032.4_Silent_p.S897S|NSD1_ENST00000347982.4_Silent_p.S731S|NSD1_ENST00000354179.4_Silent_p.S731S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1000					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCTTACTGTCCGACAAGAGAG	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			5	188					0	0	0	0	T	176638400	C	T	176638400	2	4	128	1	0	0	0	0	0	0	0	1	10740	639	23	1		1	NSD1	5	176638400	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	7132329	176638400	4276860	86	24771											
NSD1	64324	broad.mit.edu	37	chr5	176687152	176687152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgttaatgttagctggtGctttgtgtgctcagaaggta	8	15	13	5	0	1	1	1	0	0	1	1	1	1	1	0	2	3	7	0	2	4	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:176687152G>A	ENST00000439151.2	+	14	5174	c.5129G>A	c.(5128-5130)tGc>tAc	p.C1710Y	NSD1_ENST00000361032.4_Missense_Mutation_p.C1607Y|NSD1_ENST00000354179.4_Missense_Mutation_p.C1441Y|NSD1_ENST00000347982.4_Missense_Mutation_p.C1441Y	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1710					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTTAGCTGGTGCTTTGTGTGC	0.383			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			8	78					0	0	0	0	A	176687152	G	A	176687152	3	1	128	1	0	0	0	0	1	0	0	0	10740	1319	46	4	5179	4	NSD1	5	176687152	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	48752	176687152	4228108	87	24772											
NSD1	64324	broad.mit.edu	37	chr5	176696606	176696606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttttcacctttcccaggtgGtggccagctgagatctgcca	6	12	10	13	0	2	1	1	1	1	1	3	2	3	1	4	3	2	1	4	3	0	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:176696606G>T	ENST00000439151.2	+	16	5352	c.5307G>T	c.(5305-5307)tgG>tgT	p.W1769C	NSD1_ENST00000361032.4_Missense_Mutation_p.W1666C|NSD1_ENST00000354179.4_Missense_Mutation_p.W1500C|NSD1_ENST00000347982.4_Missense_Mutation_p.W1500C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1769	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTCCCAGGTGGTGGCCAGCTG	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			37	45					8.16277e-20	1.11847e-19	1	0	T	176696606	G	T	176696606	3	4	128	1	0	0	0	0	1	0	0	0	10740	1270	44	4	5365	4	NSD1	5	176696606	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	9454	176696606	4218654	88	24773											
CANX	821	broad.mit.edu	37	chr5	179153693	179153693	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcttagaagagaaacagaAaagtgatgctgaagaagatg	18	8	12	3	0	1	7	0	2	1	5	1	8	1	7	0	0	2	1	0	0	7	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:179153693A>G	ENST00000247461.4	+	14	1858	c.1658A>G	c.(1657-1659)aAa>aGa	p.K553R	CANX_ENST00000452673.2_Missense_Mutation_p.K553R|CANX_ENST00000504734.1_Missense_Mutation_p.K553R|CANX_ENST00000512607.2_Missense_Mutation_p.K445R|CANX_ENST00000415618.2_Missense_Mutation_p.K588R	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	553					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGAAACAGAAAAGTGATGCT	0.363													3	57					0	0	0	0	G	179153693	A	G	179153693	3	3	128	1	0	0	0	0	1	0	0	0	2643	14	1	5	1708	5	CANX	5	179153693	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	2457087	179153693	1761567	89	24774											
SNRPC	6631	broad.mit.edu	37	chr6	34741334	34741334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcggcccggaatgactcGaccagacagataaggataga	14	5	11	11	3	0	4	0	1	0	3	2	7	0	6	2	3	0	0	2	3	3	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:34741334G>T	ENST00000374017.3	+	5	817	c.530G>T	c.(529-531)cGa>cTa	p.R177L	SNRPC_ENST00000244520.5_Missense_Mutation_p.R156L|SNRPC_ENST00000374018.1_Missense_Mutation_p.R115L			P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	156					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GGAATGACTCGACCAGACAGA	0.537													24	51					3.01185e-09	3.55244e-09	1	0	T	34741334	G	T	34741334	3	4	128	1	0	0	0	0	1	0	0	0	14951	1058	37	3	489	3	SNRPC	6	34741334	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08		34741334	136373733	90	24775											
DEF6	50619	broad.mit.edu	37	chr6	35287469	35287469	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgaatcgctcagaccaggTaggcctgaggaacctcttct	9	9	11	12	2	3	2	1	1	2	1	4	4	3	3	3	3	2	2	3	3	3	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:35287469T>A	ENST00000316637.5	+	8	1387		c.e8+2		DEF6_ENST00000542066.1_Splice_Site	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)							cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						TCAGACCAGGTAGGCCTGAGG	0.577													14	49					0	0	0	0	A	35287469	T	A	35287469	5	1	128	1	0	0	0	0	0	0	1	0	4418	1652	57	5	1414	5	DEF6	6	35287469	Splice_Site	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	546135	35287469	135827598	91	24776											
ETV7	51513	broad.mit.edu	37	chr6	36343668	36343668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctgggcgcacggtgcCggaagtcgtccttggtgagg	5	8	18	10	4	0	2	0	2	0	0	2	3	1	3	2	5	2	2	2	5	1	1	rs79496316	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:36343668C>A	ENST00000339796.5	-	3	1132	c.287G>T	c.(286-288)cGg>cTg	p.R96L	ETV7_ENST00000373738.1_Intron|ETV7_ENST00000340181.4_Missense_Mutation_p.R96L|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373737.4_Missense_Mutation_p.R96L	NM_001207035.1	NP_001193964.1	Q9Y603	ETV7_HUMAN	ets variant 7	96	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CGCACGGTGCCGGAAGTCGTC	0.662													29	112					7.26314e-15	9.3925e-15	1	0	A	36343668	C	A	36343668	3	1	128	1	0	0	0	0	1	0	0	0	5322	652	23	3	762	3	ETV7	6	36343668	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	1056199	36343668	134771399	92	24777											
MEP1A	4224	broad.mit.edu	37	chr6	46800886	46800886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtttcgctaccttttccaggGcacaaaaggcgaccctcaga	10	9	9	13	2	1	1	1	0	0	1	3	2	2	1	3	2	1	3	3	2	3	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:46800886G>A	ENST00000230588.4	+	11	1229	c.1220G>A	c.(1219-1221)gGc>gAc	p.G407D		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	407	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CTTTTCCAGGGCACAAAAGGC	0.512													5	147					0	0	0	0	A	46800886	G	A	46800886	3	1	128	1	0	0	0	0	1	0	0	0	9544	1203	42	4	1262	4	MEP1A	6	46800886	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	10457218	46800886	124314181	93	24778											
RHAG	6005	broad.mit.edu	37	chr6	49580134	49580134	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacttgtatccaagcacAgagaccattcctgcaatgct	13	9	8	11	0	0	1	0	0	0	1	2	3	2	2	3	1	4	4	3	1	4	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:49580134A>T	ENST00000371175.4	-	6	947	c.921T>A	c.(919-921)tcT>tcA	p.S307S	RHAG_ENST00000229810.7_Silent_p.S307S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	307					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATCCAAGCACAGAGACCATTC	0.458													28	80					0	0	0	0	T	49580134	A	T	49580134	2	4	128	1	0	0	0	0	0	0	0	1	13398	175	7	5		5	RHAG	6	49580134	Silent	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	2779248	49580134	121534933	94	24779											
DST	667	broad.mit.edu	37	chr6	56479240	56479240	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccatttttgcaattcttTggctttttcaacatgttctt	7	21	4	9	0	3	0	1	0	2	0	3	0	3	0	1	1	3	3	1	1	3	9			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:56479240T>G	ENST00000370754.5	-	36	4872	c.4873A>C	c.(4873-4875)Aaa>Caa	p.K1625Q	DST_ENST00000312431.6_Missense_Mutation_p.K1447Q|DST_ENST00000370769.4_Missense_Mutation_p.K1447Q|DST_ENST00000421834.2_Missense_Mutation_p.K1447Q|DST_ENST00000446842.2_Missense_Mutation_p.K1121Q|DST_ENST00000244364.6_Missense_Mutation_p.K1121Q|DST_ENST00000370788.2_Missense_Mutation_p.K1447Q|DST_ENST00000361203.3_Missense_Mutation_p.K1447Q			Q03001	DYST_HUMAN	dystonin	1447					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCAATTCTTTGGCTTTTTCA	0.358													10	35					0	0	0	0	G	56479240	T	G	56479240	3	3	128	1	0	0	0	0	1	0	0	0	4819	1821	63	5	12402	5	DST	6	56479240	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	6899106	56479240	114635827	95	24780											
BAI3	577	broad.mit.edu	37	chr6	69703851	69703851	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccctgcatctgatggtgtCcaggtaagggagacaagttc	10	10	12	9	0	1	2	0	1	1	1	4	3	3	2	2	3	1	3	2	3	2	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:69703851C>A	ENST00000370598.1	+	11	2747	c.1926C>A	c.(1924-1926)gtC>gtA	p.V642V		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	642					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTGATGGTGTCCAGGTAAGGG	0.483													17	58					3.57192e-18	4.79233e-18	1	0	A	69703851	C	A	69703851	2	1	128	1	0	0	0	0	0	0	0	1	1304	842	30	2		2	BAI3	6	69703851	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	13224611	69703851	101411216	96	24781											
COL19A1	1310	broad.mit.edu	37	chr6	70909342	70909342	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtattcctatcccagctcaAgctgccagcagcaatgttgg	9	11	9	12	0	1	0	1	0	0	0	3	0	3	0	3	1	5	6	3	1	4	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:70909342A>T	ENST00000322773.4	+	49	3227	c.3125A>T	c.(3124-3126)aAg>aTg	p.K1042M	COL19A1_ENST00000393344.1_Missense_Mutation_p.K664M	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1042					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCCCAGCTCAAGCTGCCAGCA	0.458													25	76					0	0	0	0	T	70909342	A	T	70909342	3	4	128	1	0	0	0	0	1	0	0	0	3706	72	3	5	3315	5	COL19A1	6	70909342	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	1205491	70909342	100205725	97	24782											
DPPA5	340168	broad.mit.edu	37	chr6	74063656	74063656	+	Missense_Mutation	SNP	T	T	A																															gcttgtacaaataggagccgTaaaccacgacctcggtgagg																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:74063656T>A	ENST00000370370.3	-	2	281	c.212A>T	c.(211-213)tAc>tTc	p.Y71F		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	71	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						ATAGGAGCCGTAAACCACGAC	0.607													19	78					0	0	0	0	A	74063656	T	A	74063656	3	1	128	1	0	0	0	0	1	0	0	0	4773	1638	57	5	146	5	DPPA5	6	74063656	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	3154314	74063656	97051411	98	24783	204	2									
DPPA5	340168	broad.mit.edu	37	chr6	74063660	74063660	+	Missense_Mutation	SNP	C	C	T																															gtacaaataggagccgtaaaCcacgacctcggtgaggtctg																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:74063660C>T	ENST00000370370.3	-	2	277	c.208G>A	c.(208-210)Gtt>Att	p.V70I		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	70	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						GAGCCGTAAACCACGACCTCG	0.597													18	79					0	0	0	0	T	74063660	C	T	74063660	3	4	128	1	0	0	0	0	1	0	0	0	4773	507	18	4	150	4	DPPA5	6	74063660	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	4	74063660	97051407	99	24784	204	2									
IMPG1	3617	broad.mit.edu	37	chr6	76751766	76751766	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacattttgtacattttttCagtactttcagttgtttcat	8	22	5	6	0	3	1	3	1	0	0	3	1	3	1	0	0	2	4	0	0	2	10			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:76751766C>A	ENST00000369950.3	-	2	334	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	49					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TACATTTTTTCAGTACTTTCA	0.353													31	127					1.99505e-19	2.68789e-19	1	0	A	76751766	C	A	76751766	4	1	128	1	0	0	0	0	0	1	0	0	7781	835	29	2	2312	2	IMPG1	6	76751766	Nonsense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	2688106	76751766	94363301	100	24785											
PGM3	5238	broad.mit.edu	37	chr6	83884177	83884177	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttctgctgattgttttatCttcatttcaacagctgtact	7	20	6	8	0	4	1	2	1	2	0	4	1	4	1	0	0	4	5	0	0	3	7			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:83884177C>T	ENST00000513973.1	-	10	1274	c.1158G>A	c.(1156-1158)aaG>aaA	p.K386K	PGM3_ENST00000283977.4_Silent_p.K305K|PGM3_ENST00000506587.1_Silent_p.K414K|PGM3_ENST00000512866.1_Silent_p.K386K	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	386					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		ATTGTTTTATCTTCATTTCAA	0.348													6	62					0	0	0	0	T	83884177	C	T	83884177	2	4	128	1	0	0	0	0	0	0	0	1	11872	912	32	2		2	PGM3	6	83884177	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	7132411	83884177	87230890	101	24786											
RWDD2A	112611	broad.mit.edu	37	chr6	83905690	83905690	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcatgacaggaaagcctgGtataatctgtgtggagggtt	10	12	14	5	0	1	1	0	1	1	0	1	3	1	3	1	4	2	3	1	4	3	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:83905690G>C	ENST00000369724.4	+	3	783	c.578G>C	c.(577-579)gGt>gCt	p.G193A	RWDD2A_ENST00000539997.1_Missense_Mutation_p.G139A	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	193										cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GGAAAGCCTGGTATAATCTGT	0.428													6	98					0	0	0	0	C	83905690	G	C	83905690	3	2	128	1	0	0	0	0	1	0	0	0	13840	1261	44	4	584	4	RWDD2A	6	83905690	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	21513	83905690	87209377	102	24787											
GRIK2	2898	broad.mit.edu	37	chr6	102130441	102130441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttaggcattagctatggGaatgatgacagaatactatc	13	12	9	7	0	0	3	0	2	0	1	2	4	1	4	1	2	2	2	1	2	7	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:102130441G>T	ENST00000369138.1	+	5	1227	c.737G>T	c.(736-738)gGa>gTa	p.G246V	GRIK2_ENST00000421544.1_Missense_Mutation_p.G246V|GRIK2_ENST00000358361.3_Missense_Mutation_p.G246V|GRIK2_ENST00000413795.1_Missense_Mutation_p.G246V|GRIK2_ENST00000369137.3_Missense_Mutation_p.G246V|GRIK2_ENST00000318991.6_Missense_Mutation_p.G246V|GRIK2_ENST00000369134.4_Missense_Mutation_p.G197V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	246					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTAGCTATGGGAATGATGACA	0.284													21	93					2.21704e-12	2.767e-12	1	0	T	102130441	G	T	102130441	3	4	128	1	0	0	0	0	1	0	0	0	6824	1174	41	2	755	2	GRIK2	6	102130441	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	18224751	102130441	68984626	103	24788											
UTRN	7402	broad.mit.edu	37	chr6	144758722	144758722	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttatgatggaactgactGcacaccagagcagtgtgggc	10	10	12	9	0	0	3	0	2	0	1	0	4	0	4	1	2	3	2	1	2	2	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:144758722G>C	ENST00000367545.3	+	10	1081	c.1081G>C	c.(1081-1083)Gca>Cca	p.A361P		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	361	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAACTGACTGCACACCAGAG	0.428													16	74					0	0	0	0	C	144758722	G	C	144758722	3	2	128	1	0	0	0	0	1	0	0	0	17199	1319	46	4	1119	4	UTRN	6	144758722	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	42628281	144758722	26356345	104	24789											
GRM1	2911	broad.mit.edu	37	chr6	146755275	146755275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctggtagcccttccatGgtggtgcacaggcgcgtgcc	4	8	14	15	3	0	0	0	0	0	0	1	0	1	0	5	4	3	2	5	4	1	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:146755275G>T	ENST00000361719.2	+	9	3398	c.2928G>T	c.(2926-2928)atG>atT	p.M976I	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.M976I|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	976					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCCCTTCCATGGTGGTGCACA	0.642													49	141					1.56793e-16	2.06915e-16	1	0	T	146755275	G	T	146755275	3	4	128	1	0	0	0	0	1	0	0	0	6846	1348	47	4	3023	4	GRM1	6	146755275	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	1996553	146755275	24359792	105	24790											
SYNE1	23345	broad.mit.edu	37	chr6	152605242	152605242	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagactcggataccagctcCtctgcgagagaggactggag	11	6	13	11	2	1	2	0	0	1	2	3	7	2	5	2	3	3	1	2	3	2	1	rs146027815	by1000genomes	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:152605242C>T	ENST00000367255.5	-	96	18679	c.18078G>A	c.(18076-18078)gaG>gaA	p.E6026E	SYNE1_ENST00000423061.1_Silent_p.E5955E|SYNE1_ENST00000448038.1_Silent_p.E5955E|SYNE1_ENST00000356820.4_Silent_p.E550E|SYNE1_ENST00000265368.4_Silent_p.E6026E|SYNE1_ENST00000341594.5_Silent_p.E5638E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6026					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATACCAGCTCCTCTGCGAGAG	0.532										HNSCC(10;0.0054)			10	62					0	0	0	0	T	152605242	C	T	152605242	2	4	128	1	0	0	0	0	0	0	0	1	15536	680	24	4		4	SYNE1	6	152605242	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	5849967	152605242	18509825	106	24791											
SYNE1	23345	broad.mit.edu	37	chr6	152652078	152652078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaaatgtaacaatatctGcttgttttagccagtggcaa	13	12	9	7	0	1	0	0	0	1	0	1	1	1	1	1	2	3	4	1	2	6	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:152652078G>T	ENST00000367255.5	-	78	14343	c.13742C>A	c.(13741-13743)gCa>gAa	p.A4581E	SYNE1_ENST00000423061.1_Missense_Mutation_p.A4510E|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4510E|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4581E|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4328E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4581					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACAATATCTGCTTGTTTTAG	0.363										HNSCC(10;0.0054)			39	111					3.09479e-21	4.3327e-21	1	0	T	152652078	G	T	152652078	3	4	128	1	0	0	0	0	1	0	0	0	15536	1319	46	4	13000	4	SYNE1	6	152652078	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	46836	152652078	18462989	107	24792											
COL28A1	340267	broad.mit.edu	37	chr7	7516766	7516766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcctggaaatccttctcCgggtaagcccctctctcctg	5	12	9	15	1	2	0	0	0	2	0	7	1	5	1	6	3	1	1	6	3	2	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:7516766C>T	ENST00000399429.3	-	14	1350	c.1210G>A	c.(1210-1212)Gga>Aga	p.G404R		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	404	Collagen-like 3.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.G404R(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AATCCTTCTCCGGGTAAGCCC	0.473													13	59					0	0	0	0	T	7516766	C	T	7516766	3	4	128	1	0	0	0	0	1	0	0	0	3716	661	23	1	2255	1	COL28A1	7	7516766	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08		7516766	151621897	108	24793											
CHN2	1124	broad.mit.edu	37	chr7	29519927	29519927	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgaagggctgccctcacAcacaacgacaaccacttcaa	13	6	7	15	2	2	0	2	0	0	0	3	2	2	0	2	1	3	2	2	1	4	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:29519927A>G	ENST00000222792.6	+	7	1139	c.609A>G	c.(607-609)acA>acG	p.T203T	CHN2_ENST00000439711.2_Silent_p.T67T|CHN2_ENST00000421775.2_Silent_p.T67T|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000424025.2_Intron|CHN2_ENST00000409041.4_Silent_p.T67T|CHN2_ENST00000539389.1_Silent_p.T59T|CHN2_ENST00000539406.1_Silent_p.T278T|CHN2_ENST00000495789.2_Silent_p.T216T|CHN2_ENST00000546235.1_Silent_p.T188T	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	203					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CTGCCCTCACACACAACGACA	0.502													9	53					0	0	0	0	G	29519927	A	G	29519927	2	3	128	1	0	0	0	0	0	0	0	1	3392	146	6	5		5	CHN2	7	29519927	Silent	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	22003161	29519927	129618736	109	24794											
RP9	6100	broad.mit.edu	37	chr7	33134957	33134957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcttcttctttttcttGtgtttctctttaccttcaga	3	25	3	10	0	7	1	1	0	6	1	8	1	7	1	1	0	1	1	1	0	1	10			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:33134957G>A	ENST00000297157.3	-	6	572	c.555C>T	c.(553-555)caC>caT	p.H185H		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	185	Lys-rich.				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			tctttttcttGTGTTTCTCTT	0.363													18	91					0	0	0	0	A	33134957	G	A	33134957	2	1	128	1	0	0	0	0	0	0	0	1	13620	1368	48	4		4	RP9	7	33134957	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	3615030	33134957	126003706	110	24795											
ANLN	54443	broad.mit.edu	37	chr7	36447556	36447556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaatctaaagacaaatctAcgacaccaggttacgtattt	15	11	5	10	2	3	1	1	0	2	1	3	2	3	1	1	1	2	2	1	1	7	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:36447556A>G	ENST00000265748.2	+	5	1308	c.1087A>G	c.(1087-1089)Acg>Gcg	p.T363A	ANLN_ENST00000396068.2_Missense_Mutation_p.T363A|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	363	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGACAAATCTACGACACCAGG	0.323													14	46					0	0	0	0	G	36447556	A	G	36447556	3	3	128	1	0	0	0	0	1	0	0	0	693	391	14	5	1105	5	ANLN	7	36447556	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	3312599	36447556	122691107	111	24796											
DDC	1644	broad.mit.edu	37	chr7	50611616	50611616	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttctcaacgtcgttgatGatgtcctcaaacgtgtctgg	8	14	9	10	3	4	2	2	2	3	0	7	2	5	2	1	1	2	1	1	1	2	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:50611616G>A	ENST00000444124.2	-	2	368	c.168C>T	c.(166-168)atC>atT	p.I56I	DDC_ENST00000357936.5_Silent_p.I56I|DDC_ENST00000431062.1_Silent_p.I56I|DDC_ENST00000426377.1_Silent_p.I56I|DDC_ENST00000380984.4_Silent_p.I56I	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	56					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CGTCGTTGATGATGTCCTCAA	0.567													30	117					0	0	0	0	A	50611616	G	A	50611616	2	1	128	1	0	0	0	0	0	0	0	1	4357	1280	45	2		2	DDC	7	50611616	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	14164060	50611616	108527047	112	24797											
ZNF479	90827	broad.mit.edu	37	chr7	57188487	57188487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacattctttgcatttgtagGacttctccctagtatgaatt	9	17	6	9	0	2	1	0	1	2	0	3	2	2	2	1	1	1	3	1	1	4	8			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:57188487G>T	ENST00000331162.4	-	5	905	c.635C>A	c.(634-636)tCc>tAc	p.S212Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GCATTTGTAGGACTTCTCCCT	0.333													6	35					0.00198382	0.00205399	1	0	T	57188487	G	T	57188487	3	4	128	1	0	0	0	0	1	0	0	0	18028	1174	41	2	943	2	ZNF479	7	57188487	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	6576871	57188487	101950176	113	24798											
ZNF479	90827	broad.mit.edu	37	chr7	57188736	57188736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catattcacccacacttttaCagcattttttaaattgtaat	13	17	2	9	0	1	0	1	0	0	0	1	0	1	0	1	0	2	2	1	0	5	9			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:57188736C>A	ENST00000331162.4	-	5	656	c.386G>T	c.(385-387)tGt>tTt	p.C129F		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CACACTTTTACAGCATTTTTT	0.353													40	125					1.48734e-19	2.01228e-19	1	0	A	57188736	C	A	57188736	3	1	128	1	0	0	0	0	1	0	0	0	18028	478	17	4	1192	4	ZNF479	7	57188736	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	249	57188736	101949927	114	24799											
ZNF138	7697	broad.mit.edu	37	chr7	64292517	64292517	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccttactaaacatcagatAatttatactggagaggaacc	16	10	6	9	0	1	2	1	0	0	2	1	4	1	3	2	2	4	0	2	2	7	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:64292517A>G	ENST00000359735.3	+	4	1073	c.726A>G	c.(724-726)atA>atG	p.I242M	ZNF138_ENST00000397136.2_Missense_Mutation_p.I242M|ZNF138_ENST00000307355.7_Missense_Mutation_p.I299M|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000437743.1_Missense_Mutation_p.I267M|ZNF138_ENST00000440155.2_Missense_Mutation_p.I273M|ZNF138_ENST00000430838.2_3'UTR	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	273					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				AACATCAGATAATTTATACTG	0.348													16	45					0	0	0	0	G	64292517	A	G	64292517	3	3	128	1	0	0	0	0	1	0	0	0	17822	352	13	5	1052	5	ZNF138	7	64292517	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	7103781	64292517	94846146	115	24800											
ABCB1	5243	broad.mit.edu	37	chr7	87133567	87133567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacagtcagagttcactggcGctttgttccagcctggacac	8	11	10	12	1	2	1	2	0	0	1	3	2	3	2	2	2	2	3	2	2	1	4	rs137996914		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:87133567G>T	ENST00000265724.3	-	29	4252	c.3835C>A	c.(3835-3837)Cgc>Agc	p.R1279S	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R1215S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1279					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTTCACTGGCGCTTTGTTCCA	0.388													25	88					2.98393e-07	3.37132e-07	1	0	T	87133567	G	T	87133567	3	4	128	1	0	0	0	0	1	0	0	0	40	1087	38	3	11	3	ABCB1	7	87133567	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	22841050	87133567	72005096	116	24801											
ZNF804B	219578	broad.mit.edu	37	chr7	88963711	88963711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaacagaaccctgtatctCttatggctgcaacccactgt	13	10	6	12	0	1	1	0	0	1	1	2	1	1	1	2	1	4	3	2	1	6	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:88963711C>G	ENST00000333190.4	+	4	2024	c.1415C>G	c.(1414-1416)tCt>tGt	p.S472C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	472						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCCTGTATCTCTTATGGCTGC	0.428										HNSCC(36;0.09)			13	77					0	0	0	0	G	88963711	C	G	88963711	3	3	128	1	0	0	0	0	1	0	0	0	18264	913	32	2	1429	2	ZNF804B	7	88963711	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	1830144	88963711	70174952	117	24802											
PPP1R9A	55607	broad.mit.edu	37	chr7	94539773	94539773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggctcagttgttaagttGgagtcttctgtttctgaacg	7	16	12	6	1	4	1	1	1	3	0	4	3	4	2	0	2	1	5	0	2	2	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:94539773G>T	ENST00000289495.5	+	1	564	c.348G>T	c.(346-348)ttG>ttT	p.L116F	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.L116F|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.L116F|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.L116F|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.L116F|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.L116F	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	116	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTGTTAAGTTGGAGTCTTCTG	0.408										HNSCC(28;0.073)			22	84					5.26018e-13	6.61632e-13	1	0	T	94539773	G	T	94539773	3	4	128	1	0	0	0	0	1	0	0	0	12454	1339	47	4	350	4	PPP1R9A	7	94539773	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	5576062	94539773	64598890	118	24803											
PDK4	5166	broad.mit.edu	37	chr7	95221311	95221311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataacttaccattcacttgtGtaagctttaattctggagat	12	16	6	7	0	2	1	1	0	1	1	2	2	2	1	1	1	3	2	1	1	4	8			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:95221311G>T	ENST00000005178.5	-	6	880	c.683C>A	c.(682-684)aCa>aAa	p.T228K		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	228	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ATTCACTTGTGTAAGCTTTAA	0.289													44	142					5.20006e-24	7.40894e-24	1	0	T	95221311	G	T	95221311	3	4	128	1	0	0	0	0	1	0	0	0	11749	1377	48	4	576	4	PDK4	7	95221311	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	681538	95221311	63917352	119	24804											
ARPC1B	10095	broad.mit.edu	37	chr7	98988569	98988569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggccggcacccaccccgtGgggctccaagatgccctttg	6	6	12	17	3	0	1	0	0	0	1	1	1	1	1	6	4	1	2	6	4	1	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:98988569G>T	ENST00000451682.1	+	8	863	c.554G>T	c.(553-555)tGg>tTg	p.W185L	ARPC1B_ENST00000252725.5_Missense_Mutation_p.W185L			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	185					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCCACCCCGTGGGGCTCCAAG	0.597													10	59					3.07112e-06	3.4218e-06	1	0	T	98988569	G	T	98988569	3	4	128	1	0	0	0	0	1	0	0	0	974	1357	47	4	572	4	ARPC1B	7	98988569	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	3767258	98988569	60150094	120	24805											
PDAP1	11333	broad.mit.edu	37	chr7	98995534	98995534	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcctcctcccgctgtttccgGatgatggccagccgggccag	4	8	13	16	3	0	1	0	1	0	0	3	2	3	2	7	3	1	2	7	3	0	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:98995534G>A	ENST00000350498.3	-	5	718	c.438C>T	c.(436-438)atC>atT	p.I146I	PDAP1_ENST00000496335.1_5'UTR	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	146					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	GCTGTTTCCGGATGATGGCCA	0.592													30	72					0	0	0	0	A	98995534	G	A	98995534	2	1	128	1	0	0	0	0	0	0	0	1	11684	1164	41	2		2	PDAP1	7	98995534	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	6965	98995534	60143129	121	24806											
SRPK2	6733	broad.mit.edu	37	chr7	104758442	104758442	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaaagaggctccagggcTtcagcttggtgatgtgtcgc	8	10	13	10	1	2	2	2	1	0	1	4	2	3	2	1	3	1	3	1	3	1	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:104758442T>G	ENST00000357311.3	-	15	2081	c.1910A>C	c.(1909-1911)aAg>aCg	p.K637T	SRPK2_ENST00000393651.3_Missense_Mutation_p.K648T|SRPK2_ENST00000489828.1_Missense_Mutation_p.K637T	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	637	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GCTCCAGGGCTTCAGCTTGGT	0.473													24	55					0	0	0	0	G	104758442	T	G	104758442	3	3	128	1	0	0	0	0	1	0	0	0	15250	1609	56	5	160	5	SRPK2	7	104758442	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	5762908	104758442	54380221	122	24807											
KCND2	3751	broad.mit.edu	37	chr7	119915441	119915441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgcctggctgcagcgcCtagtcgttaccgttttgtgc	3	13	12	13	4	0	0	0	0	0	0	2	0	0	0	3	1	4	5	3	1	2	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:119915441C>A	ENST00000331113.4	+	1	1720	c.755C>A	c.(754-756)cCt>cAt	p.P252H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	252					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCTGCAGCGCCTAGTCGTTAC	0.537													28	49					4.43304e-23	6.28827e-23	1	0	A	119915441	C	A	119915441	3	1	128	1	0	0	0	0	1	0	0	0	8072	681	24	4	757	4	KCND2	7	119915441	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	15156999	119915441	39223222	123	24808											
CPA5	93979	broad.mit.edu	37	chr7	129989825	129989825	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaacaaggtggacttcTggcgtggcccagccaggccc	7	7	15	12	1	1	1	0	1	1	0	1	2	1	2	3	6	2	0	3	6	2	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:129989825T>C	ENST00000485477.1	+	4	1337	c.208T>C	c.(208-210)Tgg>Cgg	p.W70R	CPA5_ENST00000393213.3_Missense_Mutation_p.W70R|CPA5_ENST00000474905.1_Missense_Mutation_p.W70R|CPA5_ENST00000466363.2_Missense_Mutation_p.W70R|CPA5_ENST00000461828.1_Missense_Mutation_p.W70R|CPA5_ENST00000431780.2_Missense_Mutation_p.W70R|CPA5_ENST00000355388.3_Missense_Mutation_p.W70R			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	70					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GGTGGACTTCTGGCGTGGCCC	0.502													38	121					0	0	0	0	C	129989825	T	C	129989825	3	2	128	1	0	0	0	0	1	0	0	0	3823	1580	55	5	218	5	CPA5	7	129989825	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	10074384	129989825	29148838	124	24809											
MGAM	8972	broad.mit.edu	37	chr7	141736654	141736654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcctcctttggagctgactCcctgctgttgaattcctcca	5	14	8	14	0	0	2	0	2	0	0	4	3	4	3	5	1	3	3	5	1	1	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:141736654C>T	ENST00000475668.2	+	18	2162	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	MGAM_ENST00000549489.2_Missense_Mutation_p.S703F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	703	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGAGCTGACTCCCTGCTGTTG	0.532													44	148					0	0	0	0	T	141736654	C	T	141736654	3	4	128	1	0	0	0	0	1	0	0	0	9610	855	30	2	2174	2	MGAM	7	141736654	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	11746829	141736654	17402009	125	24810											
OR2A2	442361	broad.mit.edu	37	chr7	143806861	143806861	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacccatgtacttcttcctCtcacacctggccatcattga	9	12	4	16	0	3	1	2	1	2	0	5	1	4	1	4	1	1	1	4	1	1	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:143806861C>T	ENST00000408979.2	+	1	255	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ACTTCTTCCTCTCACACCTGG	0.458													61	188					0	0	0	0	T	143806861	C	T	143806861	2	4	128	1	0	0	0	0	0	0	0	1	11048	900	32	2		2	OR2A2	7	143806861	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	2070207	143806861	15331802	126	24811											
ADAM7	8756	broad.mit.edu	37	chr8	24324490	24324490	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgaatctgaagaagacTccaaaataaaagtgagtact	20	9	7	5	0	1	5	0	3	1	2	2	5	2	5	1	0	1	1	1	0	9	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:24324490T>A	ENST00000175238.6	+	6	651	c.568T>A	c.(568-570)Tcc>Acc	p.S190T	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.S190T|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.S190T	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	190					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGAAGAAGACTCCAAAATAAA	0.353													39	113					0	0	0	0	A	24324490	T	A	24324490	3	1	128	1	0	0	0	0	1	0	0	0	251	1551	54	5	590	5	ADAM7	8	24324490	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08		24324490	122039532	127	24812											
RP1	6101	broad.mit.edu	37	chr8	55541215	55541215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtccagtgacttctgattgGtcagactatcggcctgacag	9	11	11	10	1	2	4	1	3	1	1	4	4	3	4	2	2	0	0	2	2	1	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:55541215G>C	ENST00000220676.1	+	4	4921	c.4773G>C	c.(4771-4773)tgG>tgC	p.W1591C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1591					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTTCTGATTGGTCAGACTATC	0.398													25	76					0	0	0	0	C	55541215	G	C	55541215	3	2	128	1	0	0	0	0	1	0	0	0	13617	1270	44	4	4783	4	RP1	8	55541215	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	31216725	55541215	90822807	128	24813											
TTPA	7274	broad.mit.edu	37	chr8	63978645	63978645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataagctgtaaaaactttggGgtcccagtgtgctaaaaaaa	16	10	9	6	0	0	0	0	0	0	0	1	0	1	0	1	2	3	3	1	2	8	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:63978645G>T	ENST00000260116.4	-	3	401	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	124	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	AAAACTTTGGGGTCCCAGTGT	0.343													15	42					6.72482e-11	8.26486e-11	1	0	T	63978645	G	T	63978645	3	4	128	1	0	0	0	0	1	0	0	0	16832	1232	43	4	478	4	TTPA	8	63978645	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	8437430	63978645	82385377	129	24814											
RIMS2	9699	broad.mit.edu	37	chr8	104955103	104955103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttccccacccttctccaTatatgccacgaagacagctc	10	9	4	18	1	1	1	0	0	1	1	4	2	2	1	5	0	2	1	5	0	3	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:104955103T>C	ENST00000507740.1	+	11	2262	c.2026T>C	c.(2026-2028)Tat>Cat	p.Y676H	RIMS2_ENST00000262231.10_Missense_Mutation_p.Y723H|RIMS2_ENST00000436393.2_Missense_Mutation_p.Y662H|RIMS2_ENST00000406091.3_Missense_Mutation_p.Y884H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	946	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCTTCTCCATATATGCCACG	0.378										HNSCC(12;0.0054)			22	64					0	0	0	0	C	104955103	T	C	104955103	3	2	128	1	0	0	0	0	1	0	0	0	13453	1406	49	5	2830	5	RIMS2	8	104955103	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	40976458	104955103	41408919	130	24815											
TRHR	7201	broad.mit.edu	37	chr8	110100014	110100014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacagtatctacggttcctgGgtctatggctatgttggatg	7	14	13	7	1	2	0	0	0	2	0	3	2	3	1	1	4	1	4	1	4	4	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:110100014G>T	ENST00000518632.1	+	2	624	c.273G>T	c.(271-273)tgG>tgT	p.W91C	TRHR_ENST00000311762.2_Missense_Mutation_p.W91C			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	91						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ACGGTTCCTGGGTCTATGGCT	0.493													52	292					1.86277e-20	2.5633e-20	1	0	T	110100014	G	T	110100014	3	4	128	1	0	0	0	0	1	0	0	0	16575	1241	43	4	275	4	TRHR	8	110100014	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	5144911	110100014	36264008	131	24816											
PKHD1L1	93035	broad.mit.edu	37	chr8	110451247	110451247	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacttcacagatattagatgCcttttgcccaagttgtctcc	10	14	6	11	0	2	2	1	0	1	2	3	2	2	2	3	0	3	1	3	0	4	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:110451247C>G	ENST00000378402.5	+	32	3986	c.3882C>G	c.(3880-3882)tgC>tgG	p.C1294W		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1294	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATATTAGATGCCTTTTGCCCA	0.388										HNSCC(38;0.096)			21	200					0	0	0	0	G	110451247	C	G	110451247	3	3	128	1	0	0	0	0	1	0	0	0	12044	747	26	4	4008	4	PKHD1L1	8	110451247	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	351233	110451247	35912775	132	24817											
FAM135B	51059	broad.mit.edu	37	chr8	139144920	139144920	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagcgatgtgagcggctcgGccgatcagggtgttggcagt	7	8	17	9	4	1	1	1	1	0	0	2	3	1	1	1	4	2	3	1	4	0	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:139144920G>T	ENST00000395297.1	-	20	4307	c.4137C>A	c.(4135-4137)ggC>ggA	p.G1379G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1379										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAGCGGCTCGGCCGATCAGGG	0.542										HNSCC(54;0.14)			70	330					1.43161e-34	2.08588e-34	1	0	T	139144920	G	T	139144920	2	4	128	1	0	0	0	0	0	0	0	1	5490	1190	42	4		4	FAM135B	8	139144920	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	28693673	139144920	7219102	133	24818											
CDKN2A	1029	broad.mit.edu	37	chr9	21971036	21971036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagacggccccaggcatCgcgcacgtccagccgcgccc	6	2	14	19	6	0	1	0	0	0	1	2	1	1	1	5	3	1	3	5	3	0	0	rs121913381		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:21971036C>A	ENST00000579755.1	-	2	657	c.365G>T	c.(364-366)cGa>cTa	p.R122L	CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D108Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	138			G -> R (in CMM2).|G -> S (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			18	23					0.0438628	0.0445546	1	0	A	21971036	C	A	21971036	3	1	128	1	0	0	0	0	1	0	0	0	3190	884	31	3	156	3	CDKN2A	9	21971036	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08		21971036	119242395	134	24819											
TAF1L	138474	broad.mit.edu	37	chr9	32630414	32630414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctcatcatcataccCttcaacatccacatcagagt	11	11	2	17	0	5	1	5	0	0	1	8	1	8	1	4	0	2	0	4	0	2	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:32630414C>A	ENST00000242310.4	-	1	5253	c.5164G>T	c.(5164-5166)Ggg>Tgg	p.G1722W		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1722					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATCATACCCTTCAACATCC	0.502													37	264					2.51541e-25	3.59983e-25	1	0	A	32630414	C	A	32630414	3	1	128	1	0	0	0	0	1	0	0	0	15614	681	24	4	320	4	TAF1L	9	32630414	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	10659378	32630414	108583017	135	24820											
B4GALT1	2683	broad.mit.edu	37	chr9	33113455	33113455	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccgtgtaccaaaacgctaGctcggtgtcccgatgtccac	9	9	9	14	4	0	0	0	0	0	0	4	1	3	0	4	1	3	3	4	1	4	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:33113455G>C	ENST00000379731.4	-	6	1380	c.1194C>G	c.(1192-1194)agC>agG	p.S398R	B4GALT1_ENST00000535206.1_Intron|B4GALT1_ENST00000541851.1_Missense_Mutation_p.S145R	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	398					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	CAAAACGCTAGCTCGGTGTCC	0.498													10	182					0	0	0	0	C	33113455	G	C	33113455	3	2	128	1	0	0	0	0	1	0	0	0	1274	962	34	4	6	4	B4GALT1	9	33113455	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	483041	33113455	108099976	136	24821											
CCIN	881	broad.mit.edu	37	chr9	36170588	36170588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagttgcctgacctgcccatCgggcttgtcttccacaccat	7	11	8	15	1	1	1	0	1	1	0	3	1	2	1	5	1	2	2	5	1	1	3	rs147398180		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:36170588C>T	ENST00000335119.2	+	1	1200	c.1089C>T	c.(1087-1089)atC>atT	p.I363I		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	363					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACCTGCCCATCGGGCTTGTCT	0.567													40	148					0	0	0	0	T	36170588	C	T	36170588	2	4	128	1	0	0	0	0	0	0	0	1	2905	874	31	1		1	CCIN	9	36170588	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	3057133	36170588	105042843	137	24822											
ZNF658	26149	broad.mit.edu	37	chr9	40774408	40774408	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtcatagccatgtgaacTttattgtattcaacagcggt	10	15	9	7	1	2	1	2	1	0	0	2	1	2	1	1	1	4	1	1	1	5	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:40774408T>A	ENST00000602553.1	-	5	1161	c.867A>T	c.(865-867)aaA>aaT	p.K289N	ZNF658_ENST00000377626.3_Missense_Mutation_p.K289N|ZNF658_ENST00000441795.1_Missense_Mutation_p.K287N			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCATGTGAACTTTATTGTATT	0.403													69	265					0	0	0	0	A	40774408	T	A	40774408	3	1	128	1	0	0	0	0	1	0	0	0	18164	1606	56	5	2316	5	ZNF658	9	40774408	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	4603820	40774408	100439023	138	24823											
VPS13A	23230	broad.mit.edu	37	chr9	79959942	79959942	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcttggaggtattatagcAgaagtgaatttggccgagca	12	11	13	5	1	0	2	0	1	0	1	0	4	0	3	1	3	3	4	1	3	6	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:79959942A>T	ENST00000360280.3	+	52	7433	c.7173A>T	c.(7171-7173)gcA>gcT	p.A2391A	VPS13A_ENST00000357409.5_Silent_p.A2391A|VPS13A_ENST00000376634.4_Silent_p.A2391A|VPS13A_ENST00000376636.3_Silent_p.A2352A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2391					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTATTATAGCAGAAGTGAATT	0.299													91	162					0	0	0	0	T	79959942	A	T	79959942	2	4	128	1	0	0	0	0	0	0	0	1	17285	175	7	5		5	VPS13A	9	79959942	Silent	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	39185534	79959942	61253489	139	24824											
OGN	4969	broad.mit.edu	37	chr9	95165608	95165608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccataatcatagataatgcGtgagtcctgctgggttggtg	9	13	12	7	1	1	2	1	1	0	1	3	2	3	2	2	2	2	2	2	2	3	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:95165608G>T	ENST00000262551.4	-	2	502	c.82C>A	c.(82-84)Cgc>Agc	p.R28S	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.R28S	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	28						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TAGATAATGCGTGAGTCCTGC	0.378													41	51					1.07121e-22	1.50624e-22	1	0	T	95165608	G	T	95165608	3	4	128	1	0	0	0	0	1	0	0	0	10917	1145	40	3	838	3	OGN	9	95165608	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	15205666	95165608	46047823	140	24825											
TBC1D2	55357	broad.mit.edu	37	chr9	100973015	100973015	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcctggacaagctgcctCagcagctctgagcactcgct	7	8	10	16	1	2	1	1	1	1	0	4	2	3	2	3	1	5	5	3	1	1	0			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:100973015C>T	ENST00000375066.5	-	8	1687	c.1596G>A	c.(1594-1596)ctG>ctA	p.L532L	TBC1D2_ENST00000375064.1_Silent_p.L532L|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375063.1_Silent_p.L72L|TBC1D2_ENST00000342112.5_Silent_p.L314L	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	532						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAGCTGCCTCAGCAGCTCTG	0.637													9	12					0	0	0	0	T	100973015	C	T	100973015	2	4	128	1	0	0	0	0	0	0	0	1	15699	813	29	2		2	TBC1D2	9	100973015	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	5807407	100973015	40240416	141	24826											
GALNT12	79695	broad.mit.edu	37	chr9	101602387	101602387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatccagaactgcatgtgcCtgaggacaggcctggcttct	8	10	12	11	0	1	2	0	1	1	1	2	3	2	3	3	3	3	3	3	3	2	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:101602387C>T	ENST00000375011.3	+	7	1316	c.1316C>T	c.(1315-1317)cCt>cTt	p.P439L		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	439						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CTGCATGTGCCTGAGGACAGG	0.582													25	198					0	0	0	0	T	101602387	C	T	101602387	3	4	128	1	0	0	0	0	1	0	0	0	6259	681	24	4	1342	4	GALNT12	9	101602387	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	629372	101602387	39611044	142	24827											
WDR31	114987	broad.mit.edu	37	chr9	116082637	116082637	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcacacagtctcctacCgtggcttcacagccttctcc	7	10	6	18	1	4	0	2	0	2	0	6	1	4	0	5	1	2	1	5	1	1	3	rs148709910		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:116082637C>A	ENST00000374193.4	-	9	1026	c.780_splice	c.e9+1	p.T260_splice	WDR31_ENST00000341761.4_Splice_Site_p.T259_splice|WDR31_ENST00000374195.3_Splice_Site_p.T135_splice|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	260								p.T260T(1)		NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AGTCTCCTACCGTGGCTTCAC	0.517													20	111					1.22574e-08	1.42486e-08	1	0	A	116082637	C	A	116082637	5	1	128	1	0	0	0	0	0	0	1	0	17382	666	23	3	335	3	WDR31	9	116082637	Splice_Site	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	14480250	116082637	25130794	143	24828											
OR1J4	26219	broad.mit.edu	37	chr9	125282226	125282226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccagtgcctccagtgaCaaggacgtaattgcctctgt	9	11	9	12	1	2	1	1	1	1	0	4	2	4	2	4	1	2	1	4	1	2	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:125282226C>G	ENST00000340750.1	+	1	807	c.807C>G	c.(805-807)gaC>gaG	p.D269E		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CCTCCAGTGACAAGGACGTAA	0.483													15	80					0	0	0	0	G	125282226	C	G	125282226	3	3	128	1	0	0	0	0	1	0	0	0	11032	477	17	4	809	4	OR1J4	9	125282226	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	9199589	125282226	15931205	144	24829											
RALGPS1	9649	broad.mit.edu	37	chr9	129958792	129958792	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagttgagagtaaaagtgcGacattcccatcggagaaagc	14	8	12	7	2	0	2	0	1	0	2	2	5	1	2	1	1	2	3	1	1	4	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:129958792G>A	ENST00000259351.5	+	13	1344	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	359					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GTAAAAGTGCGACATTCCCAT	0.512													10	122					0	0	0	0	A	129958792	G	A	129958792	2	1	128	1	0	0	0	0	0	0	0	1	13099	1045	37	1		1	RALGPS1	9	129958792	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	4676566	129958792	11254639	145	24830											
ZDHHC12	84885	broad.mit.edu	37	chr9	131483930	131483930	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgggcagcagcacccacCatgccaggtacaggccccac	10	2	10	19	1	0	0	0	0	0	0	0	0	0	0	6	3	4	4	6	3	1	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:131483930C>T	ENST00000372667.5	-	4	553	c.524_splice	c.e4+1	p.W175_splice	ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372663.4_Splice_Site_p.W161_splice|ZDHHC12_ENST00000372672.2_Splice_Site_p.W161_splice			Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	161						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						CAGCACCCACCATGCCAGGTA	0.647													31	171					0	0	0	0	T	131483930	C	T	131483930	5	4	128	1	0	0	0	0	0	0	1	0	17697	608	21	4	329	4	ZDHHC12	9	131483930	Splice_Site	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	1525138	131483930	9729501	146	24831											
ABL1	25	broad.mit.edu	37	chr9	133738189	133738189	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcttcaacaccctggccGagttggttcatcatcattca	8	11	8	14	2	5	0	5	0	0	0	5	1	5	0	3	2	1	3	3	2	1	4	rs150134901	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:133738189G>T	ENST00000318560.5	+	4	970	c.589G>T	c.(589-591)Gag>Tag	p.E197*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	197	SH2.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|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|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|SH3 domain 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)	CACCCTGGCCGAGTTGGTTCA	0.572			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								42	64					6.2361e-21	8.69275e-21	1	0	T	133738189	G	T	133738189	4	4	128	1	0	0	0	0	0	1	0	0	92	1059	37	3	743	3	ABL1	9	133738189	Nonsense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	2254259	133738189	7475242	147	24832											
DBH	1621	broad.mit.edu	37	chr9	136522343	136522343	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacaagtcctcagccgtcCgcttccaggtgcgctgccat	7	8	10	16	3	1	0	1	0	0	0	4	0	4	0	5	1	4	3	5	1	2	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:136522343C>G	ENST00000393056.2	+	11	1726	c.1714C>G	c.(1714-1716)Cgc>Ggc	p.R572G	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	572					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTCAGCCGTCCGCTTCCAGGT	0.632													19	70					0	0	0	0	G	136522343	C	G	136522343	3	3	128	1	0	0	0	0	1	0	0	0	4283	652	23	3	1756	3	DBH	9	136522343	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	2784154	136522343	4691088	148	24833											
COL5A1	1289	broad.mit.edu	37	chr9	137726895	137726895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgagcgcctctgccCaccagaacgtcacctaccac	8	6	9	18	2	2	2	1	1	1	1	2	2	2	2	5	1	5	2	5	1	2	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:137726895C>A	ENST00000371817.3	+	65	5629	c.5215C>A	c.(5215-5217)Cac>Aac	p.H1739N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1739	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGCCTCTGCCCACCAGAACGT	0.652													6	45					1.6384e-10	1.99835e-10	1	0	A	137726895	C	A	137726895	3	1	128	1	0	0	0	0	1	0	0	0	3726	594	21	4	5473	4	COL5A1	9	137726895	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	1204552	137726895	3486536	149	24834											
PNPLA7	375775	broad.mit.edu	37	chr9	140441337	140441337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtctctcttccggaaccggTactgaggagtgggctgtgct	5	12	14	10	2	2	1	0	1	2	0	4	3	3	3	2	4	3	3	2	4	2	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:140441337T>C	ENST00000406427.1	-	4	554	c.218A>G	c.(217-219)tAc>tGc	p.Y73C	PNPLA7_ENST00000277531.4_Missense_Mutation_p.Y48C	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	48					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCGGAACCGGTACTGAGGAGT	0.602													4	125					0	0	0	0	C	140441337	T	C	140441337	3	2	128	1	0	0	0	0	1	0	0	0	12242	1638	57	5	3938	5	PNPLA7	9	140441337	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	2714442	140441337	772094	150	24835											
MYO3A	53904	broad.mit.edu	37	chr10	26377306	26377306	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatttctgaatatctcctgGaaaaatcccgagttatccac	13	12	6	10	1	2	2	0	1	2	1	5	4	4	3	3	1	0	1	3	1	5	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:26377306G>T	ENST00000265944.5	+	15	1700	c.1534G>T	c.(1534-1536)Gaa>Taa	p.E512*	MYO3A_ENST00000543632.1_Nonsense_Mutation_p.E512*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	512	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATATCTCCTGGAAAAATCCCG	0.343													16	51					3.41278e-10	4.14685e-10	1	0	T	26377306	G	T	26377306	4	4	128	1	0	0	0	0	0	1	0	0	10146	1175	41	2	1584	2	MYO3A	10	26377306	Nonsense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08		26377306	109157441	151	24836											
ANKRD30A	91074	broad.mit.edu	37	chr10	37442498	37442498	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattgctattacttttaacAgagtctctgtgagactgttt	9	19	7	6	0	1	2	0	1	1	2	2	3	1	2	0	0	3	2	0	0	4	7			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:37442498A>C	ENST00000374660.1	+	13	1638		c.e13-1		ANKRD30A_ENST00000602533.1_Splice_Site|ANKRD30A_ENST00000361713.1_Splice_Site			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TACTTTTAACAGAGTCTCTGT	0.279													13	239					0	0	0	0	C	37442498	A	C	37442498	5	2	128	1	0	0	0	0	0	0	1	0	658	202	7	5	1588	5	ANKRD30A	10	37442498	Splice_Site	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	11065192	37442498	98092249	152	24837											
ZNF37A	7587	broad.mit.edu	37	chr10	38404180	38404180	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaaggcgaggagccatGgatattagaggaaaaatttc	16	7	14	4	1	0	2	0	0	0	2	1	7	0	5	1	5	1	0	1	5	5	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:38404180G>A	ENST00000351773.3	+	7	1030	c.200G>A	c.(199-201)tGg>tAg	p.W67*	ZNF37A_ENST00000479469.1_3'UTR|ZNF37A_ENST00000361085.4_Nonsense_Mutation_p.W67*	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	67	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAGGAGCCATGGATATTAGAG	0.418													10	41					0	0	0	0	A	38404180	G	A	38404180	4	1	128	1	0	0	0	0	0	1	0	0	17967	1357	47	4	210	4	ZNF37A	10	38404180	Nonsense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	961682	38404180	97130567	153	24838											
PCDH15	65217	broad.mit.edu	37	chr10	55826622	55826622	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattgacatctgtcaccacTatgtttactgtggcagttga	9	15	8	9	0	3	2	2	2	1	0	3	2	3	2	1	1	1	3	1	1	2	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:55826622T>A	ENST00000373965.2	-	19	2530	c.2136A>T	c.(2134-2136)atA>atT	p.I712I	PCDH15_ENST00000395430.1_Silent_p.I705I|PCDH15_ENST00000395432.2_Silent_p.I668I|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Silent_p.I710I|PCDH15_ENST00000395445.1_Silent_p.I712I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Silent_p.I683I|PCDH15_ENST00000437009.1_Silent_p.I634I|PCDH15_ENST00000373957.3_Silent_p.I683I|PCDH15_ENST00000320301.6_Silent_p.I705I|PCDH15_ENST00000409834.1_Silent_p.I316I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Silent_p.I705I|PCDH15_ENST00000361849.3_Silent_p.I705I|PCDH15_ENST00000395438.1_Silent_p.I705I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	705	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGTCACCACTATGTTTACTG	0.383										HNSCC(58;0.16)			20	83					0	0	0	0	A	55826622	T	A	55826622	2	1	128	1	0	0	0	0	0	0	0	1	11582	1512	53	5		5	PCDH15	10	55826622	Silent	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	17422442	55826622	79708125	154	24839											
H2AFY2	55506	broad.mit.edu	37	chr10	71868860	71868860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatccctcagtggggctccGacaaatgtgaagaacagctt	12	8	10	11	1	1	2	1	1	0	1	3	3	3	2	2	2	2	2	2	2	3	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:71868860G>A	ENST00000373255.4	+	8	1114	c.850G>A	c.(850-852)Gac>Aac	p.D284N	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	284	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GTGGGGCTCCGACAAATGTGA	0.567													4	117					0	0	0	0	A	71868860	G	A	71868860	3	1	128	1	0	0	0	0	1	0	0	0	6980	1058	37	1	876	1	H2AFY2	10	71868860	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	16042238	71868860	63665887	155	24840											
NRG3	10718	broad.mit.edu	37	chr10	84733562	84733562	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtattcaaaggtggaaaggCatcctgtgactgcattggag	12	10	13	6	0	1	1	1	1	0	0	2	3	2	3	1	4	1	3	1	4	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:84733562C>A	ENST00000372142.2	+	8	914	c.640C>A	c.(640-642)Cat>Aat	p.H214N	NRG3_ENST00000372141.2_Missense_Mutation_p.H435N|NRG3_ENST00000537893.1_Missense_Mutation_p.H85N|NRG3_ENST00000404576.2_Missense_Mutation_p.H239N|NRG3_ENST00000404547.1_Missense_Mutation_p.H435N|NRG3_ENST00000556918.1_Missense_Mutation_p.H265N|NRG3_ENST00000545131.1_Missense_Mutation_p.H85N	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	435	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGTGGAAAGGCATCCTGTGAC	0.478													17	60					1.00905e-13	1.28424e-13	1	0	A	84733562	C	A	84733562	3	1	128	1	0	0	0	0	1	0	0	0	10720	710	25	4	1497	4	NRG3	10	84733562	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	12864702	84733562	50801185	156	24841											
PKD2L1	9033	broad.mit.edu	37	chr10	102053067	102053067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtcagaaagttgcagctCatccttctgtccagccagct	9	10	10	12	0	3	1	2	0	1	1	5	2	5	1	3	1	4	4	3	1	1	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:102053067C>T	ENST00000318222.3	-	10	2111	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	PKD2L1_ENST00000338519.3_Missense_Mutation_p.E502K|PKD2L1_ENST00000353274.3_Missense_Mutation_p.E577K	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	577					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGTTGCAGCTCATCCTTCTGT	0.502													22	96					0	0	0	0	T	102053067	C	T	102053067	3	4	128	1	0	0	0	0	1	0	0	0	12039	835	29	2	716	2	PKD2L1	10	102053067	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	17319505	102053067	33481680	157	24842											
PDCD11	22984	broad.mit.edu	37	chr10	105185171	105185171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattattggctgtatccatgCctcccacattctagatgatg	9	14	7	11	0	1	2	0	1	1	1	3	2	3	2	3	1	1	2	3	1	3	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:105185171C>T	ENST00000369797.3	+	20	3288	c.3194C>T	c.(3193-3195)gCc>gTc	p.A1065V		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1065	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGTATCCATGCCTCCCACATT	0.537													24	96					0	0	0	0	T	105185171	C	T	105185171	3	4	128	1	0	0	0	0	1	0	0	0	11688	739	26	4	3268	4	PDCD11	10	105185171	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	3132104	105185171	30349576	158	24843											
PPP2R2D	55844	broad.mit.edu	37	chr10	133769195	133769195	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttgaacagcgccatcAtgaccgggtcctataacaac	11	11	8	11	2	1	2	1	2	0	0	2	2	2	2	3	1	4	1	3	1	4	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:133769195A>T	ENST00000422256.2	+	8	890	c.405A>T	c.(403-405)tcA>tcT	p.S135S	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	0					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CAGCGCCATCATGACCGGGTC	0.602													12	52					0	0	0	0	T	133769195	A	T	133769195	2	4	128	1	0	0	0	0	0	0	0	1	12463	217	8	5		5	PPP2R2D	10	133769195	Silent	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	28584024	133769195	1765552	159	24844											
OR51B4	79339	broad.mit.edu	37	chr11	5322799	5322799	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgcagttgtacctcagTggtgtgcggatggcaatgaa	11	10	14	6	1	1	2	1	1	0	1	1	3	1	3	1	3	3	4	1	3	4	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:5322799T>C	ENST00000380224.1	-	1	427	c.378A>G	c.(376-378)ccA>ccG	p.P126P	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTACCTCAGTGGTGTGCGGA	0.443													20	78					0	0	0	0	C	5322799	T	C	5322799	2	2	128	1	0	0	0	0	0	0	0	1	11161	1683	59	5		5	OR51B4	11	5322799	Silent	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08		5322799	129683717	160	24845											
DCHS1	8642	broad.mit.edu	37	chr11	6648870	6648870	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactctccagaagcaaggtcTaggacaaaggctcctgatgg	13	7	11	10	0	2	2	0	1	2	1	4	3	3	3	2	4	2	2	2	4	5	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:6648870T>C	ENST00000299441.3	-	14	5811	c.5400A>G	c.(5398-5400)ctA>ctG	p.L1800L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1800	Cadherin 17.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCAAGGTCTAGGACAAAGG	0.547													13	36					0	0	0	0	C	6648870	T	C	6648870	2	2	128	1	0	0	0	0	0	0	0	1	4319	1509	53	5		5	DCHS1	11	6648870	Silent	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	1326071	6648870	128357646	161	24846											
MICAL2	9645	broad.mit.edu	37	chr11	12281413	12281413	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttcttgcgcagtggcCgccattggcaccctggaagg	8	8	14	11	2	1	0	0	0	1	0	1	2	1	1	3	4	1	3	3	4	2	3	rs144667365		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:12281413C>A	ENST00000256194.4	+	26	3591	c.3303C>A	c.(3301-3303)gcC>gcA	p.A1101A	MICAL2_ENST00000537344.1_Silent_p.A911A|MICAL2_ENST00000527546.1_Silent_p.A911A|MICAL2_ENST00000379612.3_Silent_p.A875A|MICAL2_ENST00000342902.5_Silent_p.A1080A	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1101						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCGCAGTGGCCGCCATTGGCA	0.592													8	34					0.000274275	0.000288616	1	0	A	12281413	C	A	12281413	2	1	128	1	0	0	0	0	0	0	0	1	9639	639	23	3		3	MICAL2	11	12281413	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	5632543	12281413	122725103	162	24847											
NAV2	89797	broad.mit.edu	37	chr11	20066805	20066805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcgtcagtcggtctgctgGtcggaagtcaagtatggatg	8	11	14	8	3	3	0	2	0	1	0	6	2	3	2	0	4	1	2	0	4	3	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:20066805G>T	ENST00000396085.1	+	14	3852	c.3491G>T	c.(3490-3492)gGt>gTt	p.G1164V	NAV2_ENST00000396087.3_Missense_Mutation_p.G1187V|NAV2_ENST00000540292.1_Missense_Mutation_p.G1118V|NAV2_ENST00000349880.4_Missense_Mutation_p.G1164V|NAV2_ENST00000533917.1_Missense_Mutation_p.G250V|NAV2_ENST00000527559.2_Missense_Mutation_p.G1116V|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Missense_Mutation_p.G1100V|NAV2_ENST00000311043.8_Missense_Mutation_p.G250V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1187						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGGTCTGCTGGTCGGAAGTCA	0.577													14	62					6.31663e-08	7.23827e-08	1	0	T	20066805	G	T	20066805	3	4	128	1	0	0	0	0	1	0	0	0	10254	1261	44	4	3654	4	NAV2	11	20066805	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	7785392	20066805	114939711	163	24848											
KCNA4	3739	broad.mit.edu	37	chr11	30033734	30033734	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcggactgaactgtagccGccaccgccctcatcctgagg	8	7	11	15	3	1	2	1	2	0	0	2	3	2	3	5	2	3	1	5	2	3	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:30033734G>A	ENST00000328224.6	-	2	1725	c.492C>T	c.(490-492)ggC>ggT	p.G164G		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	164	Poly-Gly.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AACTGTAGCCGCCACCGCCCT	0.507													8	95					0	0	0	0	A	30033734	G	A	30033734	2	1	128	1	0	0	0	0	0	0	0	1	8058	1074	38	1		1	KCNA4	11	30033734	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	9966929	30033734	104972782	164	24849											
OR5D13	390142	broad.mit.edu	37	chr11	55541364	55541364	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttctggtggctgggtccTatacatgggggatagtgtgc	5	13	15	8	0	2	0	0	0	2	0	3	1	3	1	1	5	2	1	1	5	3	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:55541364T>A	ENST00000361760.1	+	1	451	c.451T>A	c.(451-453)Tat>Aat	p.Y151N		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GGCTGGGTCCTATACATGGGG	0.423													54	176					0	0	0	0	A	55541364	T	A	55541364	3	1	128	1	0	0	0	0	1	0	0	0	11225	1522	53	5	453	5	OR5D13	11	55541364	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	25507630	55541364	79465152	165	24850											
OR5D16	390144	broad.mit.edu	37	chr11	55606771	55606771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatcaatcatttcttctgtGagttatcctccctgatatca	10	16	4	11	0	5	2	3	2	2	0	7	2	7	2	2	0	0	1	2	0	4	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:55606771G>A	ENST00000378396.1	+	1	544	c.544G>A	c.(544-546)Gag>Aag	p.E182K		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTTCTTCTGTGAGTTATCCTC	0.413													21	67					0	0	0	0	A	55606771	G	A	55606771	3	1	128	1	0	0	0	0	1	0	0	0	11227	1291	45	2	546	2	OR5D16	11	55606771	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	65407	55606771	79399745	166	24851											
OR5I1	10798	broad.mit.edu	37	chr11	55703522	55703522	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcgatcataggccatggCggccaggatgaaggattctg	11	8	14	8	2	2	1	1	1	1	0	2	4	2	3	2	5	1	0	2	5	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:55703522C>G	ENST00000301532.3	-	1	354	c.355G>C	c.(355-357)Gcc>Ccc	p.A119P		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A119T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAGGCCATGGCGGCCAGGATG	0.433													18	65					0	0	0	0	G	55703522	C	G	55703522	3	3	128	1	0	0	0	0	1	0	0	0	11235	768	27	3	592	3	OR5I1	11	55703522	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	96751	55703522	79302994	167	24852											
OR5T2	219464	broad.mit.edu	37	chr11	56000386	56000386	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacatgggtttgtggagctgGgaatccctaatgaccactaa	11	11	11	8	0	0	1	0	1	0	0	1	3	1	3	2	3	2	2	2	3	4	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:56000386G>A	ENST00000313264.4	-	1	351	c.276C>T	c.(274-276)tcC>tcT	p.S92S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTGGAGCTGGGAATCCCTAA	0.393													16	41					0	0	0	0	A	56000386	G	A	56000386	2	1	128	1	0	0	0	0	0	0	0	1	11253	1219	43	4		4	OR5T2	11	56000386	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	296864	56000386	79006130	168	24853											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57087949	57087949	+	Missense_Mutation	SNP	C	C	A																															cagtctcttgggtggcttctCctccagtggaggcctcaacc																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:57087949C>A	ENST00000532437.1	-	2	643	c.332G>T	c.(331-333)gGa>gTa	p.G111V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G111V			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	111					nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGTGGCTTCTCCTCCAGTGGA	0.632													7	31					0.27861	0.279478	1	0	A	57087949	C	A	57087949	3	1	128	1	0	0	0	0	1	0	0	0	16414	855	30	2	4893	2	TNKS1BP1	11	57087949	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	1087563	57087949	77918567	169	24854	205	2									
TNKS1BP1	85456	broad.mit.edu	37	chr11	57087950	57087950	+	Nonsense_Mutation	SNP	C	C	A																															agtctcttgggtggcttctcCtccagtggaggcctcaaccg																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:57087950C>A	ENST00000532437.1	-	2	642	c.331G>T	c.(331-333)Gga>Tga	p.G111*	TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.G111*			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	111					nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GTGGCTTCTCCTCCAGTGGAG	0.627													8	31					0.0477658	0.0483666	1	0	A	57087950	C	A	57087950	4	1	128	1	0	0	0	0	0	1	0	0	16414	690	24	4	4894	4	TNKS1BP1	11	57087950	Nonsense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	1	57087950	77918566	170	24855	205	2									
OR5B12	390191	broad.mit.edu	37	chr11	58206882	58206882	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattcctgtcccataaaagAtggaaactgcagtaaggtgg	14	9	11	7	0	0	2	0	0	0	2	2	3	2	3	2	3	2	2	2	3	4	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:58206882A>T	ENST00000302572.2	-	1	764	c.743T>A	c.(742-744)aTc>aAc	p.I248N		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCCATAAAAGATGGAAACTGC	0.433													17	59					0	0	0	0	T	58206882	A	T	58206882	3	4	128	1	0	0	0	0	1	0	0	0	11219	333	12	5	205	5	OR5B12	11	58206882	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	1118932	58206882	76799634	171	24856											
MS4A14	84689	broad.mit.edu	37	chr11	60164123	60164123	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacgaaactgtattgacTgcatttccctacagacctca	13	10	5	13	1	1	2	1	1	0	1	2	3	2	2	3	0	4	2	3	0	4	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:60164123T>A	ENST00000300187.6	+	1	349	c.72T>A	c.(70-72)acT>acA	p.T24T	MS4A14_ENST00000531783.1_Silent_p.T24T|MS4A14_ENST00000395005.2_Silent_p.T24T|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	24						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTGTATTGACTGCATTTCCCT	0.463													15	47					0	0	0	0	A	60164123	T	A	60164123	2	1	128	1	0	0	0	0	0	0	0	1	9928	1567	55	5		5	MS4A14	11	60164123	Silent	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	1957241	60164123	74842393	172	24857											
SIPA1	6494	broad.mit.edu	37	chr11	65409011	65409011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagaaccgaacctcggccTacagcctggagcacgcagac	12	3	10	16	3	0	2	0	0	0	2	1	4	0	3	4	2	5	2	4	2	3	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:65409011T>C	ENST00000394224.3	+	2	915	c.619T>C	c.(619-621)Tac>Cac	p.Y207H	SIPA1_ENST00000534313.1_Missense_Mutation_p.Y207H|SIPA1_ENST00000394227.3_Missense_Mutation_p.Y207H|SIPA1_ENST00000527525.1_Missense_Mutation_p.Y207H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	207					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AACCTCGGCCTACAGCCTGGA	0.632													3	58					0	0	0	0	C	65409011	T	C	65409011	3	2	128	1	0	0	0	0	1	0	0	0	14416	1522	53	5	621	5	SIPA1	11	65409011	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	5244888	65409011	69597505	173	24858											
NPAS4	266743	broad.mit.edu	37	chr11	66192497	66192497	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagacgcccgtggaagaCatcttcatggatctctctac	11	9	10	11	2	4	2	1	0	3	2	5	6	4	4	1	2	1	0	1	2	3	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:66192497C>T	ENST00000311034.2	+	7	2312	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	712					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCGTGGAAGACATCTTCATGG	0.597													37	111					0	0	0	0	T	66192497	C	T	66192497	2	4	128	1	0	0	0	0	0	0	0	1	10635	477	17	4		4	NPAS4	11	66192497	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	783486	66192497	68814019	174	24859											
CTSF	8722	broad.mit.edu	37	chr11	66332437	66332437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagttgcaggactgcatGtgaccctggtagctgtagtc	9	10	14	8	0	0	2	0	1	0	1	1	4	0	3	1	2	3	6	1	2	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:66332437G>C	ENST00000310325.5	-	9	1195	c.1086C>G	c.(1084-1086)caC>caG	p.H362Q		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	362					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGACTGCATGTGACCCTGGT	0.577													17	84					0	0	0	0	C	66332437	G	C	66332437	3	2	128	1	0	0	0	0	1	0	0	0	4066	1368	48	4	388	4	CTSF	11	66332437	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	139940	66332437	68674079	175	24860											
SPTBN2	6712	broad.mit.edu	37	chr11	66472762	66472762	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggctgaggccaggaggTgctgctgctcccgcacccag	5	7	15	14	2	0	1	0	1	0	0	2	2	1	2	3	4	3	5	3	4	0	0			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:66472762T>G	ENST00000533211.1	-	15	2316	c.1985A>C	c.(1984-1986)cAc>cCc	p.H662P	SPTBN2_ENST00000309996.2_Missense_Mutation_p.H662P|SPTBN2_ENST00000529997.1_Missense_Mutation_p.H662P			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	662					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGCCAGGAGGTGCTGCTGCTC	0.721													6	22					0	0	0	0	G	66472762	T	G	66472762	3	3	128	1	0	0	0	0	1	0	0	0	15210	1696	59	5	5283	5	SPTBN2	11	66472762	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	140325	66472762	68533754	176	24861											
C2CD3	26005	broad.mit.edu	37	chr11	73789342	73789342	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgggcccctggtgactTctgctcttttggatgccttg	3	15	13	10	0	2	2	0	2	2	0	2	3	2	3	3	3	2	1	3	3	0	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:73789342T>A	ENST00000334126.7	-	23	4647	c.4421A>T	c.(4420-4422)gAa>gTa	p.E1474V	C2CD3_ENST00000313663.7_Missense_Mutation_p.E1474V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1474						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCTGGTGACTTCTGCTCTTTT	0.478													43	102					0	0	0	0	A	73789342	T	A	73789342	3	1	128	1	0	0	0	0	1	0	0	0	2174	1783	62	5	1506	5	C2CD3	11	73789342	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	7316580	73789342	61217174	177	24862											
USP28	57646	broad.mit.edu	37	chr11	113683212	113683212	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgaacaagaactgcatgCaagcgataaggcacctgtaa	16	7	9	9	1	1	2	1	1	0	1	1	3	1	2	1	1	5	4	1	1	6	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:113683212C>T	ENST00000003302.4	-	16	1826	c.1758G>A	c.(1756-1758)ttG>ttA	p.L586L	USP28_ENST00000260188.5_Silent_p.L586L|USP28_ENST00000544967.1_Silent_p.L294L|USP28_ENST00000545540.1_Silent_p.L461L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	586					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GAACTGCATGCAAGCGATAAG	0.398													10	111					0	0	0	0	T	113683212	C	T	113683212	2	4	128	1	0	0	0	0	0	0	0	1	17154	709	25	4		4	USP28	11	113683212	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	39893870	113683212	21323304	178	24863											
OR6T1	219874	broad.mit.edu	37	chr11	123814394	123814394	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatgtgcaggcgttggtctAtccagctgagcacaataatt	10	12	11	8	1	1	1	0	1	1	0	2	1	2	1	1	2	3	5	1	2	4	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:123814394A>T	ENST00000321252.2	-	1	186	c.152T>A	c.(151-153)aTa>aAa	p.I51K		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCGTTGGTCTATCCAGCTGAG	0.498													38	103					0	0	0	0	T	123814394	A	T	123814394	3	4	128	1	0	0	0	0	1	0	0	0	11281	449	16	5	822	5	OR6T1	11	123814394	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	10131182	123814394	11192122	179	24864											
CD163L1	283316	broad.mit.edu	37	chr12	7528460	7528460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcccacagaaagagatatgGcatctccacagtttaattct	13	11	6	11	0	2	2	0	0	2	2	4	3	3	2	2	1	0	2	2	1	3	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:7528460G>T	ENST00000313599.3	-	10	2579	c.2522C>A	c.(2521-2523)gCc>gAc	p.A841D	CD163L1_ENST00000416109.2_Missense_Mutation_p.A851D|CD163L1_ENST00000396630.1_Missense_Mutation_p.A841D|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	841	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAGAGATATGGCATCTCCACA	0.453													26	81					9.80776e-20	1.33253e-19	1	0	T	7528460	G	T	7528460	3	4	128	1	0	0	0	0	1	0	0	0	2997	1203	42	4	1879	4	CD163L1	12	7528460	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08		7528460	126323435	180	24865											
CD163L1	283316	broad.mit.edu	37	chr12	7559177	7559177	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacagtcaaaattgacGgttccggaatgtctgcagtc	12	10	11	8	2	2	3	1	2	1	1	4	4	3	4	1	2	1	2	1	2	4	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:7559177G>A	ENST00000313599.3	-	5	1095	c.1038C>T	c.(1036-1038)acC>acT	p.T346T	CD163L1_ENST00000416109.2_Silent_p.T356T|CD163L1_ENST00000396630.1_Silent_p.T346T			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	346	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAAAATTGACGGTTCCGGAAT	0.423													24	66					0	0	0	0	A	7559177	G	A	7559177	2	1	128	1	0	0	0	0	0	0	0	1	2997	1103	39	1		1	CD163L1	12	7559177	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	30717	7559177	126292718	181	24866											
PDE3A	5139	broad.mit.edu	37	chr12	20766439	20766439	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcccacggcctcattacCgacctcctggcagacccttc	7	7	9	18	2	1	1	1	0	0	1	3	3	2	1	6	3	1	1	6	3	1	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:20766439C>A	ENST00000359062.3	+	3	1114	c.1074C>A	c.(1072-1074)acC>acA	p.T358T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	358				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GCCTCATTACCGACCTCCTGG	0.542													20	83					0.000132079	0.000142239	1	0	A	20766439	C	A	20766439	2	1	128	1	0	0	0	0	0	0	0	1	11708	639	23	3		3	PDE3A	12	20766439	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	13207262	20766439	113085456	182	24867											
ABCC9	10060	broad.mit.edu	37	chr12	21997758	21997758	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagatttttggcagctGtgagacccatccattctaca	10	12	10	9	0	1	3	0	2	1	2	2	4	2	3	2	2	2	2	2	2	2	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:21997758G>C	ENST00000261200.4	-	25	3187	c.3188C>G	c.(3187-3189)aCa>aGa	p.T1063R	ABCC9_ENST00000345162.2_Missense_Mutation_p.T1027R|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.T1063R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1063	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTGGCAGCTGTGAGACCCAT	0.408													30	88					0	0	0	0	C	21997758	G	C	21997758	3	2	128	1	0	0	0	0	1	0	0	0	59	1377	48	4	1659	4	ABCC9	12	21997758	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	1231319	21997758	111854137	183	24868											
ABCC9	10060	broad.mit.edu	37	chr12	22035798	22035798	+	Frame_Shift_Del	DEL	T	T	-																															aggctgtttcctgtttatagTttttggctgctgcattccaa																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:22035798delT	ENST00000261200.4	-	14	1920	c.1921delA	c.(1921-1923)ctfs	p.T641fs	ABCC9_ENST00000261201.4_Frame_Shift_Del_p.T641fs|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Intron	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	641					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGTTTATAGTTTTTGGCTGC	0.408													7	320	---	---	---	---					-	22035798	T	-	22035798	7	5	128	1	0	1	0	1	0	0	0	0	59	1725	60	0	2970	0	ABCC9	12	22035798	Frame_Shift_Del	DEL	T	TCGA-CN-A6V3-01A-12D-A34J-08	38040	22035798	111816097	184	24869											
KIF21A	55605	broad.mit.edu	37	chr12	39705291	39705291	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtatgcccttcagctaTgtgaatacactgaagtggaa	11	14	9	7	0	1	2	1	2	0	0	1	3	1	3	1	1	3	2	1	1	6	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:39705291T>C	ENST00000395670.3	-	31	4446	c.4027A>G	c.(4027-4029)Ata>Gta	p.I1343V	KIF21A_ENST00000544797.2_Missense_Mutation_p.I1305V|KIF21A_ENST00000361418.5_Missense_Mutation_p.I1342V|KIF21A_ENST00000541463.2_Missense_Mutation_p.I1289V|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000361961.3_Missense_Mutation_p.I1329V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1342					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCTTCAGCTATGTGAATACAC	0.413													26	101					0	0	0	0	C	39705291	T	C	39705291	3	2	128	1	0	0	0	0	1	0	0	0	8339	1464	51	5	1028	5	KIF21A	12	39705291	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	17669493	39705291	94146604	185	24870											
NELL2	4753	broad.mit.edu	37	chr12	44913863	44913863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgaaccacattcatttcGtccaggcaagtcttggtgat	11	11	9	10	2	2	1	1	1	1	0	4	2	3	1	2	2	2	1	2	2	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:44913863G>A	ENST00000429094.2	-	19	2829	c.2325C>T	c.(2323-2325)gaC>gaT	p.D775D	NELL2_ENST00000395487.2_Silent_p.D774D|NELL2_ENST00000549027.1_Silent_p.D774D|NELL2_ENST00000333837.4_Silent_p.D798D|NELL2_ENST00000551601.1_Silent_p.D727D|NELL2_ENST00000437801.2_Silent_p.D825D|NELL2_ENST00000452445.2_Silent_p.D775D	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	775	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CATTCATTTCGTCCAGGCAAG	0.493													14	62					0	0	0	0	A	44913863	G	A	44913863	2	1	128	1	0	0	0	0	0	0	0	1	10404	1136	40	1		1	NELL2	12	44913863	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	5208572	44913863	88938032	186	24871											
VDR	7421	broad.mit.edu	37	chr12	48238538	48238538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtcctagtcaggagatCtcattgccaaacacttcgag	10	10	10	11	1	2	1	2	0	1	1	5	3	3	1	2	2	2	1	2	2	2	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:48238538C>A	ENST00000229022.3	-	11	1556	c.1275G>T	c.(1273-1275)gaG>gaT	p.E425D	VDR_ENST00000535672.1_Missense_Mutation_p.E393D|VDR_ENST00000395324.2_Missense_Mutation_p.E425D|VDR_ENST00000549336.1_Missense_Mutation_p.E425D|VDR_ENST00000550325.1_Missense_Mutation_p.E475D	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	425	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTCAGGAGATCTCATTGCCAA	0.637													17	60					1.67942e-08	1.94522e-08	1	0	A	48238538	C	A	48238538	3	1	128	1	0	0	0	0	1	0	0	0	17245	912	32	2	12	2	VDR	12	48238538	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	3324675	48238538	85613357	187	24872											
OR10AD1	121275	broad.mit.edu	37	chr12	48596947	48596947	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggtgataaagatgatgagGccattcatggccatggtgag	12	9	15	5	0	1	5	1	4	0	1	1	6	1	5	2	4	0	0	2	4	2	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:48596947G>T	ENST00000310248.2	-	1	223	c.129C>A	c.(127-129)ggC>ggA	p.G43G		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AGATGATGAGGCCATTCATGG	0.527													12	42					7.03913e-09	8.24218e-09	1	0	T	48596947	G	T	48596947	2	4	128	1	0	0	0	0	0	0	0	1	10967	1190	42	4		4	OR10AD1	12	48596947	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	358409	48596947	85254948	188	24873											
TFCP2	7024	broad.mit.edu	37	chr12	51566130	51566130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggccgatcccggacaGgctagcatcaaagtcctgca	9	8	10	14	2	1	0	1	0	0	0	4	2	4	1	4	3	2	3	4	3	2	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:51566130G>T	ENST00000307660.4	-	1	796	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	TFCP2_ENST00000257915.5_Missense_Mutation_p.L26M|TFCP2_ENST00000549867.1_Missense_Mutation_p.L26M|TFCP2_ENST00000548115.1_Missense_Mutation_p.L26M	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	26					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						ATCCCGGACAGGCTAGCATCA	0.567													43	120					1.22674e-20	1.70264e-20	1	0	T	51566130	G	T	51566130	3	4	128	1	0	0	0	0	1	0	0	0	15889	991	35	4	1492	4	TFCP2	12	51566130	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	2969183	51566130	82285765	189	24874											
C12orf56	115749	broad.mit.edu	37	chr12	64678478	64678478	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttcaggcgtgatgactCggtttctgtttctctgaaca	6	16	11	8	2	3	3	1	3	2	0	5	3	3	3	0	2	1	3	0	2	1	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:64678478C>A	ENST00000543942.2	-	8	1902	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*	C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Nonsense_Mutation_p.E266*|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	429										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CGTGATGACTCGGTTTCTGTT	0.373													9	18					5.50884e-06	6.07481e-06	1	0	A	64678478	C	A	64678478	4	1	128	1	0	0	0	0	0	1	0	0	1712	893	31	3	616	3	C12orf56	12	64678478	Nonsense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	13112348	64678478	69173417	190	24875											
TMEM19	55266	broad.mit.edu	37	chr12	72094709	72094709	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataacaacgcagtgaatctGttttcttctgttcttattgc	9	17	7	8	1	4	1	0	1	4	0	4	2	4	1	0	0	3	3	0	0	4	7	rs139427215		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:72094709G>T	ENST00000266673.5	+	6	1539	c.945G>T	c.(943-945)ctG>ctT	p.L315L		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	315						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CAGTGAATCTGTTTTCTTCTG	0.473													89	266					4.90379e-48	7.21013e-48	1	0	T	72094709	G	T	72094709	2	4	128	1	0	0	0	0	0	0	0	1	16207	1364	48	4		4	TMEM19	12	72094709	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	7416231	72094709	61757186	191	24876											
NAV3	89795	broad.mit.edu	37	chr12	78400883	78400883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaaggaaagcttaattcCgtcttccagtggtattccaa	13	12	8	8	1	1	1	0	0	1	1	4	2	4	2	3	2	1	2	3	2	6	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:78400883C>G	ENST00000397909.2	+	8	1738	c.1565C>G	c.(1564-1566)cCg>cGg	p.P522R	NAV3_ENST00000228327.6_Missense_Mutation_p.P522R|NAV3_ENST00000536525.2_Missense_Mutation_p.P522R|NAV3_ENST00000266692.7_Missense_Mutation_p.P522R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	522						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCTTAATTCCGTCTTCCAGT	0.453										HNSCC(70;0.22)			20	59					0	0	0	0	G	78400883	C	G	78400883	3	3	128	1	0	0	0	0	1	0	0	0	10255	652	23	3	1595	3	NAV3	12	78400883	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	6306174	78400883	55451012	192	24877											
MYF6	4618	broad.mit.edu	37	chr12	81101646	81101646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgccaggaccaaatgcccCcggaagcggggagcgacagc	10	2	14	15	3	0	0	0	0	0	0	0	4	0	3	5	4	5	0	5	4	2	0			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:81101646C>A	ENST00000228641.3	+	1	370	c.148C>A	c.(148-150)Ccg>Acg	p.P50T		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	50					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CCAAATGCCCCCGGAAGCGGG	0.612													19	66					1.01871e-10	1.24724e-10	1	0	A	81101646	C	A	81101646	3	1	128	1	0	0	0	0	1	0	0	0	10098	623	22	4	150	4	MYF6	12	81101646	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	2700763	81101646	52750249	193	24878											
PPFIA2	8499	broad.mit.edu	37	chr12	81751874	81751874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattaacctttggctcatctCttcgcacacccatgcggcct	7	12	7	15	2	2	0	1	0	1	0	4	1	2	0	3	2	2	2	3	2	1	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:81751874C>G	ENST00000550584.2	-	15	2055	c.1760G>C	c.(1759-1761)aGa>aCa	p.R587T	PPFIA2_ENST00000548586.1_Missense_Mutation_p.R587T|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R587T|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R488T|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R569T|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R569T|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R154T|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R513T|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R587T|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R434T|PPFIA2_ENST00000541017.1_5'UTR	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	513										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGGCTCATCTCTTCGCACACC	0.378													4	17					0	0	0	0	G	81751874	C	G	81751874	3	3	128	1	0	0	0	0	1	0	0	0	12381	913	32	2	2081	2	PPFIA2	12	81751874	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	650228	81751874	52100021	194	24879											
CDK17	5128	broad.mit.edu	37	chr12	96688775	96688775	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatatctcatacattccatAccaaaatctgctagctttaa	16	13	2	10	0	2	0	1	0	2	0	4	0	3	0	2	0	4	2	2	0	8	7			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:96688775A>C	ENST00000261211.3	-	10	1601		c.e10+1		CDK17_ENST00000542666.1_Splice_Site|CDK17_ENST00000553042.1_Splice_Site|CDK17_ENST00000543119.2_Splice_Site	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17								ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TACATTCCATACCAAAATCTG	0.358													27	91					0	0	0	0	C	96688775	A	C	96688775	5	2	128	1	0	0	0	0	0	0	1	0	3162	405	14	5	642	5	CDK17	12	96688775	Splice_Site	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	14936901	96688775	37163120	195	24880											
KIAA1033	23325	broad.mit.edu	37	chr12	105540905	105540905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattcgaacacatggcaCgggaattatgaatacaactg	15	10	8	8	2	1	1	1	1	0	0	2	3	1	2	0	2	3	1	0	2	7	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:105540905C>T	ENST00000332180.5	+	24	2582	c.2495C>T	c.(2494-2496)aCg>aTg	p.T832M		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	832					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						ACACATGGCACGGGAATTATG	0.348													21	145					0	0	0	0	T	105540905	C	T	105540905	3	4	128	1	0	0	0	0	1	0	0	0	8257	536	19	1	2589	1	KIAA1033	12	105540905	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	8852130	105540905	28310990	196	24881											
CUX2	23316	broad.mit.edu	37	chr12	111742075	111742075	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagctggcctctgtcaacaGctccatccgcctggcttgct	6	10	9	16	1	2	0	1	0	1	0	4	0	4	0	4	2	4	4	4	2	1	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:111742075G>C	ENST00000261726.6	+	10	969	c.815G>C	c.(814-816)aGc>aCc	p.S272T		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	272						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCTGTCAACAGCTCCATCCGC	0.652													5	26					0	0	0	0	C	111742075	G	C	111742075	3	2	128	1	0	0	0	0	1	0	0	0	4097	971	34	4	853	4	CUX2	12	111742075	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	6201170	111742075	22109820	197	24882											
MTUS2	23281	broad.mit.edu	37	chr13	29599330	29599330	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaaggataaactggcaaaGacccttgacaatgaggaact	16	6	9	10	0	0	3	0	2	0	1	0	5	0	5	2	3	2	1	2	3	6	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:29599330G>A	ENST00000431530.3	+	1	583	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	165						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACTGGCAAAGACCCTTGACA	0.512													25	79					0	0	0	0	A	29599330	G	A	29599330	2	1	128	1	0	0	0	0	0	0	0	1	10036	933	33	2		2	MTUS2	13	29599330	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08		29599330	85570548	198	24883											
STARD13	90627	broad.mit.edu	37	chr13	33703979	33703979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggccacctgtccgccCagaccccttatgcctcccgt	6	7	7	21	2	0	1	0	0	0	1	2	1	2	1	9	1	1	0	9	1	1	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:33703979C>A	ENST00000336934.5	-	5	951	c.835G>T	c.(835-837)Ggg>Tgg	p.G279W	STARD13_ENST00000399365.3_Missense_Mutation_p.G161W|STARD13_ENST00000255486.4_Missense_Mutation_p.G271W	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	279					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CCTGTCCGCCCAGACCCCTTA	0.557													14	109					0.00244969	0.00252821	1	0	A	33703979	C	A	33703979	3	1	128	1	0	0	0	0	1	0	0	0	15346	594	21	4	2546	4	STARD13	13	33703979	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	4104649	33703979	81465899	199	24884											
PCDH17	27253	broad.mit.edu	37	chr13	58208702	58208702	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggcaagcctaccctgtcCgcagtggccaagctcatcat	9	7	9	16	2	2	0	2	0	0	0	3	0	3	0	4	2	3	3	4	2	3	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:58208702C>A	ENST00000377918.3	+	1	2048	c.2022C>A	c.(2020-2022)tcC>tcA	p.S674S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	674	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S674S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTACCCTGTCCGCAGTGGCCA	0.667													55	143					1.46357e-32	2.12284e-32	1	0	A	58208702	C	A	58208702	2	1	128	1	0	0	0	0	0	0	0	1	11583	639	23	3		3	PCDH17	13	58208702	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	24504723	58208702	56961176	200	24885											
PCDH9	5101	broad.mit.edu	37	chr13	67800388	67800388	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgttacctgttactggatCaatccggaataagcctttat	12	14	7	8	1	1	0	1	0	0	0	2	2	2	2	3	2	3	2	3	2	7	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:67800388C>G	ENST00000544246.1	-	2	2876	c.2185G>C	c.(2185-2187)Gat>Cat	p.D729H	PCDH9_ENST00000377865.2_Missense_Mutation_p.D729H|PCDH9_ENST00000328454.5_Missense_Mutation_p.D729H|PCDH9_ENST00000456367.1_Missense_Mutation_p.D729H|PCDH9_ENST00000377861.3_Missense_Mutation_p.D729H	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	729	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTTACTGGATCAATCCGGAAT	0.428													37	121					0	0	0	0	G	67800388	C	G	67800388	3	3	128	1	0	0	0	0	1	0	0	0	11589	826	29	2	1544	2	PCDH9	13	67800388	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	9591686	67800388	47369490	201	24886											
KLHL1	57626	broad.mit.edu	37	chr13	70549918	70549918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttgaggtgtcattgaatGgccggttgatgacagcctat	9	13	12	7	1	1	4	1	4	0	0	1	4	1	4	2	3	1	1	2	3	2	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:70549918G>C	ENST00000377844.4	-	2	1273	c.514C>G	c.(514-516)Cat>Gat	p.H172D	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	172					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTCATTGAATGGCCGGTTGAT	0.383													18	58					0	0	0	0	C	70549918	G	C	70549918	3	2	128	1	0	0	0	0	1	0	0	0	8417	1348	47	4	1772	4	KLHL1	13	70549918	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	2749530	70549918	44619960	202	24887											
TBC1D4	9882	broad.mit.edu	37	chr13	75930320	75930320	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggaatacataacaaataTactggctaagtccaggctct	15	10	7	9	0	1	0	0	0	1	0	2	1	2	1	1	3	3	2	1	3	7	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:75930320T>A	ENST00000377636.3	-	4	1584	c.1238A>T	c.(1237-1239)tAt>tTt	p.Y413F	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.Y413F|TBC1D4_ENST00000377625.2_Missense_Mutation_p.Y413F	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	413	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATAACAAATATACTGGCTAAG	0.463													10	42					0	0	0	0	A	75930320	T	A	75930320	3	1	128	1	0	0	0	0	1	0	0	0	15716	1406	49	5	2730	5	TBC1D4	13	75930320	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	5380402	75930320	39239558	203	24888											
MYCBP2	23077	broad.mit.edu	37	chr13	77870791	77870791	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttttcaatttcttcttAtttaaaattttcttattcct	8	26	0	7	0	5	0	1	0	4	0	6	0	6	0	1	0	0	0	1	0	5	12			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:77870791A>G	ENST00000407578.2	-	2	587	c.321T>C	c.(319-321)aaT>aaC	p.N107N	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.N69N|MYCBP2_ENST00000544440.2_Silent_p.N69N	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTTCTTCTTATTTAAAATTT	0.269													7	18					0	0	0	0	G	77870791	A	G	77870791	2	3	128	1	0	0	0	0	0	0	0	1	10088	446	16	5		5	MYCBP2	13	77870791	Silent	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	1940471	77870791	37299087	204	24889											
NALCN	259232	broad.mit.edu	37	chr13	101844358	101844358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagagtttggtccattacGtccacccatccttcctgggt	6	15	8	12	1	0	1	0	0	0	1	4	1	4	1	5	2	1	1	5	2	2	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:101844358G>C	ENST00000251127.6	-	14	1755	c.1674C>G	c.(1672-1674)gaC>gaG	p.D558E	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.D558E	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	558						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTCCATTACGTCCACCCATC	0.448													11	47					0	0	0	0	C	101844358	G	C	101844358	3	2	128	1	0	0	0	0	1	0	0	0	10218	1136	40	3	3666	3	NALCN	13	101844358	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	23973567	101844358	13325520	205	24890											
SLC10A2	6555	broad.mit.edu	37	chr13	103703645	103703645	+	Frame_Shift_Del	DEL	C	C	-																															gcaattctagccagaagaaaCcccagggagtaacccgccac																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:103703645delC	ENST00000245312.3	-	4	1319	c.723delG	c.(721-723)ggfs	p.G241fs		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	241					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCAGAAGAAACCCCAGGGAGT	0.428													10	83	---	---	---	---					-	103703645	C	-	103703645	7	5	128	1	0	1	0	1	0	0	0	0	14462	494	18	0	335	0	SLC10A2	13	103703645	Frame_Shift_Del	DEL	C	TCGA-CN-A6V3-01A-12D-A34J-08	1859287	103703645	11466233	206	24891											
GRK1	6011	broad.mit.edu	37	chr13	114322049	114322049	+	Frame_Shift_Del	DEL	C	C	-																															atcctggcccagtacctggaCccccaggccaaactcttctg																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:114322049delC	ENST00000335678.6	+	1	580	c.348delC	c.(346-348)gafs	p.D116fs		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	116	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			AGTACCTGGACCCCCAGGCCA	0.607													16	41	---	---	---	---					-	114322049	C	-	114322049	7	5	128	1	0	1	0	1	0	0	0	0	6840	506	18	0	350	0	GRK1	13	114322049	Frame_Shift_Del	DEL	C	TCGA-CN-A6V3-01A-12D-A34J-08	10618404	114322049	847829	207	24892											
CLEC14A	161198	broad.mit.edu	37	chr14	38723900	38723900	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctcaggatcactctccAggcccggcgggcccatagac	7	5	13	16	3	3	1	2	0	1	1	4	2	3	2	3	5	0	1	3	5	1	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:38723900A>G	ENST00000342213.2	-	1	1674	c.1328T>C	c.(1327-1329)cTg>cCg	p.L443P		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	443						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ATCACTCTCCAGGCCCGGCGG	0.572													14	64					0	0	0	0	G	38723900	A	G	38723900	3	3	128	1	0	0	0	0	1	0	0	0	3529	188	7	5	148	5	CLEC14A	14	38723900	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08		38723900	68625640	208	24893											
LRFN5	145581	broad.mit.edu	37	chr14	42361025	42361025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactggcacaaagccaagtaCagaaccacagaatgaagccg	17	3	10	11	1	0	3	0	1	0	2	0	4	0	3	3	1	4	2	3	1	6	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:42361025C>A	ENST00000298119.4	+	4	3147	c.1958C>A	c.(1957-1959)aCa>aAa	p.T653K	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	653						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGCCAAGTACAGAACCACAG	0.483										HNSCC(30;0.082)			7	23					2.0095e-06	2.24673e-06	1	0	A	42361025	C	A	42361025	3	1	128	1	0	0	0	0	1	0	0	0	9005	478	17	4	1964	4	LRFN5	14	42361025	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	3637125	42361025	64988515	209	24894											
SPATA7	55812	broad.mit.edu	37	chr14	88892630	88892630	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaagaagaaatgaatggaTtttcatcctttgcaaggtca	16	12	8	5	0	2	3	2	1	0	2	3	4	3	4	1	2	1	1	1	2	6	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:88892630T>C	ENST00000556553.1	+	6	890	c.331T>C	c.(331-333)Ttt>Ctt	p.F111L	SPATA7_ENST00000356583.5_Missense_Mutation_p.F111L|SPATA7_ENST00000045347.7_Missense_Mutation_p.F143L|SPATA7_ENST00000393545.4_Missense_Mutation_p.F143L			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	143					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AATGAATGGATTTTCATCCTT	0.398													33	78					0	0	0	0	C	88892630	T	C	88892630	3	2	128	1	0	0	0	0	1	0	0	0	15104	1493	52	5	449	5	SPATA7	14	88892630	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	46531605	88892630	18456910	210	24895											
TRAF3	7187	broad.mit.edu	37	chr14	103336783	103336783	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatggcggccctgctgaGgtaggcgccctcgcccggcc	3	6	15	17	4	0	1	0	1	0	0	1	1	0	1	4	5	2	3	4	5	1	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:103336783G>T	ENST00000560371.1	+	2	462	c.245_splice	c.e2+1	p.S82_splice	TRAF3_ENST00000539721.1_Splice_Site_p.S82_splice|TRAF3_ENST00000392745.2_Splice_Site_p.S82_splice|TRAF3_ENST00000347662.4_Splice_Site_p.S82_splice|TRAF3_ENST00000351691.5_Splice_Site_p.S82_splice	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	82					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GCCCTGCTGAGGTAGGCGCCC	0.607													5	22					3.59834e-05	3.92768e-05	1	0	T	103336783	G	T	103336783	5	4	128	1	0	0	0	0	0	0	1	0	16534	1014	35	4	247	4	TRAF3	14	103336783	Splice_Site	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	14444153	103336783	4012757	211	24896											
AHNAK2	113146	broad.mit.edu	37	chr14	105410152	105410152	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcctttgaggccggctTcctcgggcacgtggccctcc	2	10	14	15	3	0	1	0	1	0	0	4	1	3	1	5	5	0	2	5	5	0	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:105410152T>C	ENST00000333244.5	-	7	11755	c.11636A>G	c.(11635-11637)gAa>gGa	p.E3879G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3879						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGCCGGCTTCCTCGGGCAC	0.592													90	264					0	0	0	0	C	105410152	T	C	105410152	3	2	128	1	0	0	0	0	1	0	0	0	415	1783	62	5	5755	5	AHNAK2	14	105410152	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	2073369	105410152	1939388	212	24897											
GABRB3	2562	broad.mit.edu	37	chr15	26806094	26806094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctacccggttgctttcgctCtttgaacggtcattctttgc	4	16	8	13	3	3	1	1	1	2	0	4	1	3	1	2	2	4	3	2	2	2	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:26806094C>T	ENST00000541819.2	-	9	1335	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	GABRB3_ENST00000400188.3_Silent_p.K284K|GABRB3_ENST00000299267.4_Silent_p.K355K|GABRB3_ENST00000545868.1_Silent_p.K270K|GABRB3_ENST00000311550.5_Silent_p.K355K			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	355					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	TGCTTTCGCTCTTTGAACGGT	0.473													42	139					0	0	0	0	T	26806094	C	T	26806094	2	4	128	1	0	0	0	0	0	0	0	1	6216	912	32	2		2	GABRB3	15	26806094	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08		26806094	75725298	213	24898											
TJP1	7082	broad.mit.edu	37	chr15	30054611	30054611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgtgaaatttccttaacaAatatatggcttgccaatcga	13	14	6	8	1	0	1	0	1	0	0	2	2	1	1	2	1	2	1	2	1	6	6			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:30054611A>G	ENST00000346128.6	-	6	1094	c.620T>C	c.(619-621)tTt>tCt	p.F207S	TJP1_ENST00000400011.2_Missense_Mutation_p.F211S|TJP1_ENST00000356107.6_Missense_Mutation_p.F207S|TJP1_ENST00000495972.2_Missense_Mutation_p.F207S|TJP1_ENST00000545208.2_Missense_Mutation_p.F207S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	207	PDZ 2.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTCCTTAACAAATATATGGCT	0.299													12	63					0	0	0	0	G	30054611	A	G	30054611	3	3	128	1	0	0	0	0	1	0	0	0	16023	14	1	5	4718	5	TJP1	15	30054611	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	3248517	30054611	72476781	214	24899											
TTBK2	146057	broad.mit.edu	37	chr15	43044498	43044498	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaattgtcttttttccacCagaagcttgactaggtctgg	8	16	9	8	0	2	3	0	2	2	1	3	3	3	3	2	2	1	1	2	2	3	7			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:43044498C>A	ENST00000267890.6	-	14	3054	c.2946G>T	c.(2944-2946)ctG>ctT	p.L982L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	982					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTTTTCCACCAGAAGCTTGA	0.443													39	115					9.62906e-15	1.24022e-14	1	0	A	43044498	C	A	43044498	2	1	128	1	0	0	0	0	0	0	0	1	16773	581	21	4		4	TTBK2	15	43044498	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	12989887	43044498	59486894	215	24900											
SEMA6D	80031	broad.mit.edu	37	chr15	48058357	48058357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttaagccagggatcctgtGgtagagtgaccccagggatg	9	8	16	8	0	0	2	0	1	0	1	1	4	1	4	4	4	1	2	4	4	2	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:48058357G>T	ENST00000316364.5	+	15	2063	c.1624G>T	c.(1624-1626)Ggt>Tgt	p.G542C	SEMA6D_ENST00000389432.2_Missense_Mutation_p.G542C|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G542C|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G542C|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G542C|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G542C|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G542C|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G542C|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G542C|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G542C|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G542C	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	542	PSI.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGGATCCTGTGGTAGAGTGAC	0.438													13	49					4.36969e-10	5.25015e-10	1	0	T	48058357	G	T	48058357	3	4	128	1	0	0	0	0	1	0	0	0	14129	1348	47	4	1682	4	SEMA6D	15	48058357	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	5013859	48058357	54473035	216	24901											
SV2B	9899	broad.mit.edu	37	chr15	91827366	91827366	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttcctgatttacctcgtCagcttcctgggcagcctgtc	5	13	9	14	1	1	1	1	1	0	0	5	2	3	1	4	1	3	2	4	1	1	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:91827366C>G	ENST00000394232.1	+	11	2093	c.1623C>G	c.(1621-1623)gtC>gtG	p.V541V	SV2B_ENST00000330276.4_Silent_p.V541V|SV2B_ENST00000545111.2_Silent_p.V390V	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	541					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTTACCTCGTCAGCTTCCTGG	0.502													50	140					0	0	0	0	G	91827366	C	G	91827366	2	3	128	1	0	0	0	0	0	0	0	1	15508	813	29	2		2	SV2B	15	91827366	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	43769009	91827366	10704026	217	24902											
LRRK1	79705	broad.mit.edu	37	chr15	101528987	101528987	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagttccctgtcatcgtGcgcttgcccctgtatgcggc	5	12	11	13	3	1	1	1	1	0	0	3	1	2	1	3	1	3	3	3	1	2	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:101528987G>A	ENST00000284395.5	+	6	973	c.573G>A	c.(571-573)gtG>gtA	p.V191V	LRRK1_ENST00000532029.2_Silent_p.V194V|LRRK1_ENST00000388948.3_Silent_p.V194V			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	194					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGTCATCGTGCGCTTGCCCC	0.612													12	31					0	0	0	0	A	101528987	G	A	101528987	2	1	128	1	0	0	0	0	0	0	0	1	9096	1306	46	4		4	LRRK1	15	101528987	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	9701621	101528987	1002405	218	24903											
ZNF598	90850	broad.mit.edu	37	chr16	2052219	2052219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcaccctcgttccggcGcgagtgccgtggcgcgtagc	3	8	14	16	7	1	0	1	0	0	0	3	1	2	0	3	2	3	3	3	2	1	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:2052219G>A	ENST00000563630.1	-	5	960	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	ZNF598_ENST00000562103.1_Missense_Mutation_p.R240C|ZNF598_ENST00000431526.1_Missense_Mutation_p.R295C			Q86UK7	ZN598_HUMAN	zinc finger protein 598	295						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TCGTTCCGGCGCGAGTGCCGT	0.692													4	49					0	0	0	0	A	2052219	G	A	2052219	3	1	128	1	0	0	0	0	1	0	0	0	18123	1087	38	1	1863	1	ZNF598	16	2052219	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08		2052219	88302534	219	24904											
CREBBP	1387	broad.mit.edu	37	chr16	3788618	3788618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggtaaacggctgtgcGgaggcaacgtggccggaaga	10	6	16	9	4	1	1	1	0	0	1	1	3	1	3	1	6	3	3	1	6	4	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:3788618G>A	ENST00000262367.5	-	26	5145	c.4336C>T	c.(4336-4338)Cgc>Tgc	p.R1446C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1446	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1446C(6)|p.R1446G(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGCTGTGCGGAGGCAACGT	0.413			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						20	35					0	0	0	0	A	3788618	G	A	3788618	3	1	128	1	0	0	0	0	1	0	0	0	3891	1116	39	1	3016	1	CREBBP	16	3788618	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	1736399	3788618	86566135	220	24905											
ADCY9	115	broad.mit.edu	37	chr16	4043454	4043454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgttttgaggtgctcCtccctcggcgccggcttcag	3	10	13	15	4	1	1	1	1	0	0	4	1	3	1	4	3	2	4	4	3	0	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:4043454C>T	ENST00000294016.3	-	4	2480	c.1942G>A	c.(1942-1944)Gga>Aga	p.G648R	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	648					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAGGTGCTCCTCCCTCGGCG	0.547													34	114					0	0	0	0	T	4043454	C	T	4043454	3	4	128	1	0	0	0	0	1	0	0	0	301	690	24	4	2151	4	ADCY9	16	4043454	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	254836	4043454	86311299	221	24906											
ACSM2B	348158	broad.mit.edu	37	chr16	20566638	20566638	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgcagcttttctcagaCaccagtagcttaattctcag	10	12	6	13	1	2	1	2	0	2	1	5	1	2	1	2	0	2	4	2	0	2	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:20566638C>T	ENST00000329697.6	-	4	717	c.549G>A	c.(547-549)gtG>gtA	p.V183V	ACSM2B_ENST00000565232.1_Silent_p.V183V|ACSM2B_ENST00000565322.1_Silent_p.V104V|ACSM2B_ENST00000414188.2_Silent_p.V183V|ACSM2B_ENST00000567001.1_Silent_p.V183V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	183					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTTTCTCAGACACCAGTAGCT	0.443													31	289					0	0	0	0	T	20566638	C	T	20566638	2	4	128	1	0	0	0	0	0	0	0	1	184	465	17	4		4	ACSM2B	16	20566638	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	16523184	20566638	69788115	222	24907											
POLR3E	55718	broad.mit.edu	37	chr16	22325008	22325008	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttctcctacctggataaGgctgacgccaagcaccggga	10	7	11	13	2	1	1	0	1	1	0	2	3	1	3	4	3	3	3	4	3	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:22325008G>T	ENST00000299853.5	+	7	599	c.432G>T	c.(430-432)aaG>aaT	p.K144N	POLR3E_ENST00000564209.1_Missense_Mutation_p.K144N|POLR3E_ENST00000359210.4_Missense_Mutation_p.K144N|POLR3E_ENST00000418581.2_Missense_Mutation_p.K108N	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	144					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ACCTGGATAAGGCTGACGCCA	0.637													17	50					1.56452e-12	1.96022e-12	1	0	T	22325008	G	T	22325008	3	4	128	1	0	0	0	0	1	0	0	0	12304	991	35	4	454	4	POLR3E	16	22325008	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	1758370	22325008	68029745	223	24908											
HS3ST4	9951	broad.mit.edu	37	chr16	26147116	26147116	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacactgtcaaagaaaccCgagatccccacctttgaggt	13	7	8	13	1	1	4	1	1	0	3	2	5	2	4	4	1	1	0	4	1	2	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:26147116C>T	ENST00000331351.5	+	2	1310	c.918C>T	c.(916-918)ccC>ccT	p.P306P	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	306					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CAAAGAAACCCGAGATCCCCA	0.542													52	151					0	0	0	0	T	26147116	C	T	26147116	2	4	128	1	0	0	0	0	0	0	0	1	7417	639	23	1		1	HS3ST4	16	26147116	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	3822108	26147116	64207637	224	24909											
SRCAP	10847	broad.mit.edu	37	chr16	30719028	30719028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcagttctggagcaatgtgGagaaggtagacagtggggat	11	8	18	4	0	1	2	0	0	1	2	1	5	1	4	0	6	1	4	0	6	3	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:30719028G>A	ENST00000262518.4	+	6	1013	c.628G>A	c.(628-630)Gag>Aag	p.E210K	SRCAP_ENST00000344771.4_Missense_Mutation_p.E210K|SRCAP_ENST00000395059.2_Missense_Mutation_p.E210K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	210					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAGCAATGTGGAGAAGGTAGA	0.522													27	54					0	0	0	0	A	30719028	G	A	30719028	3	1	128	1	0	0	0	0	1	0	0	0	15225	1175	41	2	642	2	SRCAP	16	30719028	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	4571912	30719028	59635725	225	24910											
SRCAP	10847	broad.mit.edu	37	chr16	30747674	30747674	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctgaggatgaggagAtgtcccgggctgagcaggaa	9	6	19	7	1	0	4	0	3	0	1	1	7	1	6	1	6	1	3	1	6	1	0			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:30747674A>T	ENST00000262518.4	+	32	7268	c.6883A>T	c.(6883-6885)Atg>Ttg	p.M2295L	SRCAP_ENST00000344771.4_Missense_Mutation_p.M2137L|SRCAP_ENST00000395059.2_Missense_Mutation_p.M2233L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2295	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGATGAGGAGATGTCCCGGGC	0.572													24	60					0	0	0	0	T	30747674	A	T	30747674	3	4	128	1	0	0	0	0	1	0	0	0	15225	333	12	5	7001	5	SRCAP	16	30747674	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	28646	30747674	59607079	226	24911											
ZNF423	23090	broad.mit.edu	37	chr16	49764794	49764794	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtcttcatcatcctcAtttctctcctcttgacttgt	5	19	3	14	0	6	1	3	1	3	0	10	1	9	1	3	0	0	0	3	0	0	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:49764794A>G	ENST00000561648.1	-	3	218	c.165T>C	c.(163-165)aaT>aaC	p.N55N	ZNF423_ENST00000562871.1_5'UTR|ZNF423_ENST00000563137.2_5'UTR|ZNF423_ENST00000262383.2_Silent_p.N55N|ZNF423_ENST00000562520.1_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	55					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CATCATCCTCATTTCTCTCCT	0.547													45	171					0	0	0	0	G	49764794	A	G	49764794	2	3	128	1	0	0	0	0	0	0	0	1	17993	214	8	5		5	ZNF423	16	49764794	Silent	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	19017120	49764794	40589959	227	24912											
CDH5	1003	broad.mit.edu	37	chr16	66436634	66436634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcgtgccggagatccaCgagcagctggtcacctacga	11	5	13	12	4	1	2	1	0	0	2	2	5	2	2	3	2	5	2	3	2	2	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:66436634C>A	ENST00000341529.3	+	12	2065	c.1917C>A	c.(1915-1917)caC>caA	p.H639Q	CDH5_ENST00000539168.1_Missense_Mutation_p.H78Q	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	639					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CGGAGATCCACGAGCAGCTGG	0.697													7	13					1.06961e-07	1.21702e-07	1	0	A	66436634	C	A	66436634	3	1	128	1	0	0	0	0	1	0	0	0	3142	535	19	3	1959	3	CDH5	16	66436634	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	16671840	66436634	23918119	228	24913											
PMFBP1	83449	broad.mit.edu	37	chr16	72170402	72170402	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactccagctgcagctccTgcagccggcactgcaggatg	8	7	12	14	1	0	1	0	1	0	0	2	2	2	2	3	2	7	6	3	2	1	0			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:72170402T>C	ENST00000537465.1	-	9	1306	c.1148A>G	c.(1147-1149)cAg>cGg	p.Q383R	PMFBP1_ENST00000355636.6_Missense_Mutation_p.Q238R|PMFBP1_ENST00000237353.10_Missense_Mutation_p.Q383R			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	383										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)				CTGCAGCTCCTGCAGCCGGCA	0.552													47	116					0	0	0	0	C	72170402	T	C	72170402	3	2	128	1	0	0	0	0	1	0	0	0	12206	1580	55	5	1987	5	PMFBP1	16	72170402	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	5733768	72170402	18184351	229	24914											
CHRNE	1145	broad.mit.edu	37	chr17	4805302	4805302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcagacgctgcggtagatgGccggaggcagccacgtcacg	8	4	16	13	6	1	2	1	0	0	2	1	3	1	3	2	4	2	4	2	4	1	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:4805302G>T	ENST00000293780.4	-	5	435	c.425C>A	c.(424-426)gCc>gAc	p.A142D	CHRNE_ENST00000575637.1_5'UTR|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	142					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GCGGTAGATGGCCGGAGGCAG	0.622													20	72					7.41877e-09	8.65524e-09	1	0	T	4805302	G	T	4805302	3	4	128	1	0	0	0	0	1	0	0	0	3424	1203	42	4	1088	4	CHRNE	17	4805302	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08		4805302	76389908	230	24915											
TP53	7157	broad.mit.edu	37	chr17	7579372	7579372	+	Silent	SNP	G	G	A																															cccagacggaaaccgtagctGccctggtaggttttctggga																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:7579372G>A	ENST00000420246.2	-	4	447	c.315C>T	c.(313-315)ggC>ggT	p.G105G	TP53_ENST00000445888.2_Silent_p.G105G|TP53_ENST00000359597.4_Silent_p.G105G|TP53_ENST00000413465.2_Silent_p.G105G|TP53_ENST00000269305.4_Silent_p.G105G|TP53_ENST00000455263.2_Silent_p.G105G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	105	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G105G(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AACCGTAGCTGCCCTGGTAGG	0.617		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	77					0	0	0	0	A	7579372	G	A	7579372	2	1	128	1	0	0	0	0	0	0	0	1	16476	1306	46	4		4	TP53	17	7579372	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	2774070	7579372	73615838	231	24916	206	2									
TP53	7157	broad.mit.edu	37	chr17	7579373	7579373	+	Missense_Mutation	SNP	C	C	A																															ccagacggaaaccgtagctgCcctggtaggttttctgggaa																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:7579373C>A	ENST00000420246.2	-	4	446	c.314G>T	c.(313-315)gGc>gTc	p.G105V	TP53_ENST00000445888.2_Missense_Mutation_p.G105V|TP53_ENST00000359597.4_Missense_Mutation_p.G105V|TP53_ENST00000413465.2_Missense_Mutation_p.G105V|TP53_ENST00000269305.4_Missense_Mutation_p.G105V|TP53_ENST00000455263.2_Missense_Mutation_p.G105V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	105	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G105D(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCGTAGCTGCCCTGGTAGGT	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	77					1.02788e-11	1.27791e-11	1	0	A	7579373	C	A	7579373	3	1	128	1	0	0	0	0	1	0	0	0	16476	739	26	4	988	4	TP53	17	7579373	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	1	7579373	73615837	232	24917	206	2									
SUPT6H	6830	broad.mit.edu	37	chr17	27010309	27010309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgaggcccactatgcCtattccttcaagtatttaaa	11	13	8	9	0	1	1	1	1	0	0	2	2	2	2	3	2	1	1	3	2	6	7			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:27010309C>T	ENST00000314616.6	+	16	2185	c.1902C>T	c.(1900-1902)gcC>gcT	p.A634A	SUPT6H_ENST00000347486.4_Silent_p.A634A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	634					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCCACTATGCCTATTCCTTCA	0.517													21	44					0	0	0	0	T	27010309	C	T	27010309	2	4	128	1	0	0	0	0	0	0	0	1	15490	668	24	4		4	SUPT6H	17	27010309	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	19430936	27010309	54184901	233	24918											
LIG3	3980	broad.mit.edu	37	chr17	33321390	33321390	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagagcgagtccaggtgcaTaagaatggagaccacttcag	13	6	14	8	1	1	3	1	0	0	3	2	6	2	3	2	3	2	1	2	3	2	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:33321390T>G	ENST00000378526.4	+	9	1684	c.1551T>G	c.(1549-1551)caT>caG	p.H517Q	LIG3_ENST00000262327.5_Missense_Mutation_p.H517Q	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	517					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TCCAGGTGCATAAGAATGGAG	0.527								Other BER factors					16	61					0	0	0	0	G	33321390	T	G	33321390	3	3	128	1	0	0	0	0	1	0	0	0	8836	1403	49	5	1581	5	LIG3	17	33321390	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	6311081	33321390	47873820	234	24919											
EFTUD2	9343	broad.mit.edu	37	chr17	42971853	42971853	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatcaagctctggtccaaTataattcccaaactcatcat	15	11	4	11	0	4	1	3	0	1	1	6	1	6	1	2	1	2	1	2	1	6	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:42971853T>C	ENST00000426333.2	-	2	334	c.37A>G	c.(37-39)Att>Gtt	p.I13V	EFTUD2_ENST00000592576.1_Missense_Mutation_p.I13V|EFTUD2_ENST00000402521.3_Intron|EFTUD2_ENST00000591382.1_Missense_Mutation_p.I13V	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	13						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCTGGTCCAATATAATTCCCA	0.368													42	107					0	0	0	0	C	42971853	T	C	42971853	3	2	128	1	0	0	0	0	1	0	0	0	4997	1406	49	5	2989	5	EFTUD2	17	42971853	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	9650463	42971853	38223357	235	24920											
ARHGAP27	201176	broad.mit.edu	37	chr17	43481428	43481428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtctgccgtcttggtgCgatggagcacccctgccttg	3	12	12	14	2	2	0	0	0	2	0	2	2	2	1	5	2	4	1	5	2	0	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:43481428C>A	ENST00000532038.1	-	6	983	c.848G>T	c.(847-849)cGc>cTc	p.R283L	ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R505L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R137L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R164L|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R164L|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R478L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R483L			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	505					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CGTCTTGGTGCGATGGAGCAC	0.582													10	27					0.000673444	0.000701777	1	0	A	43481428	C	A	43481428	3	1	128	1	0	0	0	0	1	0	0	0	878	768	27	3	1199	3	ARHGAP27	17	43481428	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	509575	43481428	37713782	236	24921											
SMURF2	64750	broad.mit.edu	37	chr17	62582256	62582256	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtccacaacttgtcctcCtgtgcctattcggtctctgg	5	13	9	14	1	1	0	0	0	1	0	6	0	4	0	4	2	2	1	4	2	2	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:62582256C>A	ENST00000262435.9	-	6	620	c.433G>T	c.(433-435)Gga>Tga	p.G145*	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	145					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ACTTGTCCTCCTGTGCCTATT	0.328													29	111					2.49991e-28	3.59363e-28	1	0	A	62582256	C	A	62582256	4	1	128	1	0	0	0	0	0	1	0	0	14908	690	24	4	1869	4	SMURF2	17	62582256	Nonsense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	19100828	62582256	18612954	237	24922											
GAA	2548	broad.mit.edu	37	chr17	78086706	78086706	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaacctgctgggggtgccTctggtcggggccgacgtctg	3	11	16	11	3	2	0	0	0	2	0	3	1	2	0	3	5	3	1	3	5	1	2	rs144090460	by1000genomes	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:78086706T>A	ENST00000302262.3	+	14	2139	c.1920T>A	c.(1918-1920)ccT>ccA	p.P640P	GAA_ENST00000390015.3_Silent_p.P640P	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	640					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TGGGGGTGCCTCTGGTCGGGG	0.642													4	25					0	0	0	0	A	78086706	T	A	78086706	2	1	128	1	0	0	0	0	0	0	0	1	6195	1538	54	5		5	GAA	17	78086706	Silent	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	15504450	78086706	3108504	238	24923											
FN3KRP	79672	broad.mit.edu	37	chr17	80684842	80684842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcttctttctacggccactCggaatatgagctggcaatag	10	11	10	10	2	2	1	0	1	2	0	3	2	2	2	1	3	3	3	1	3	5	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:80684842C>T	ENST00000269373.6	+	6	798	c.725C>T	c.(724-726)tCg>tTg	p.S242L	FN3KRP_ENST00000535965.1_Missense_Mutation_p.S192L	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	242							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TACGGCCACTCGGAATATGAG	0.552													37	101					0	0	0	0	T	80684842	C	T	80684842	3	4	128	1	0	0	0	0	1	0	0	0	6009	893	31	1	747	1	FN3KRP	17	80684842	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	2598136	80684842	510368	239	24924											
RIT2	6014	broad.mit.edu	37	chr18	40503582	40503582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgttacccaccagcaccagGggaatttcataggtgtggcg	9	10	12	10	1	1	0	1	0	0	0	1	1	1	1	3	4	2	2	3	4	3	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr18:40503582G>T	ENST00000590910.1	-	5	572	c.443C>A	c.(442-444)cCc>cAc	p.P148H	RIT2_ENST00000282028.4_Silent_p.P127P|RIT2_ENST00000326695.5_Silent_p.P127P|RIT2_ENST00000589109.1_Silent_p.P127P			Q99578	RIT2_HUMAN	Ras-like without CAAX 2	0					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCAGCACCAGGGGAATTTCAT	0.473													80	217					3.37217e-29	4.86923e-29	1	0	T	40503582	G	T	40503582	3	4	128	1	0	0	0	0	1	0	0	0	13472	1219	43	4	280	4	RIT2	18	40503582	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08		40503582	37573666	240	24925											
LIPG	9388	broad.mit.edu	37	chr18	47093899	47093899	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgtagttgtggttgacTggctccccctggcccaccag	6	10	11	14	0	0	1	0	1	0	0	1	1	1	1	5	3	0	4	5	3	2	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr18:47093899T>A	ENST00000261292.4	+	3	645	c.367T>A	c.(367-369)Tgg>Agg	p.W123R	LIPG_ENST00000427224.2_Missense_Mutation_p.W123R|LIPG_ENST00000577628.1_Missense_Mutation_p.W159R|LIPG_ENST00000580036.1_Missense_Mutation_p.W123R	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	123					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TGTGGTTGACTGGCTCCCCCT	0.542													9	36					0	0	0	0	A	47093899	T	A	47093899	3	1	128	1	0	0	0	0	1	0	0	0	8878	1580	55	5	377	5	LIPG	18	47093899	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	6590317	47093899	30983349	241	24926											
CCDC11	220136	broad.mit.edu	37	chr18	47769417	47769417	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtcaaattctttctcctGagctttttcttcctcacgtc	5	19	4	13	1	6	1	2	1	4	0	9	1	7	1	2	0	1	1	2	0	1	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr18:47769417G>A	ENST00000398545.4	-	6	1183	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	356										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTTTCTCCTGAGCTTTTTCT	0.368													45	148					0	0	0	0	A	47769417	G	A	47769417	4	1	128	1	0	0	0	0	0	1	0	0	2771	1299	45	2	490	2	CCDC11	18	47769417	Nonsense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	675518	47769417	30307831	242	24927											
WDR7	23335	broad.mit.edu	37	chr18	54363476	54363476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaccctcattcacaggttGgccacctcacagaacactcc	12	7	5	17	0	3	1	3	0	0	1	4	1	4	1	4	2	2	1	4	2	2	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr18:54363476G>T	ENST00000254442.3	+	12	1572	c.1361G>T	c.(1360-1362)tGg>tTg	p.W454L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.W454L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	454										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTCACAGGTTGGCCACCTCAC	0.378													8	34					0.00307968	0.00316823	1	0	T	54363476	G	T	54363476	3	4	128	1	0	0	0	0	1	0	0	0	17416	1357	47	4	1403	4	WDR7	18	54363476	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	6594059	54363476	23713772	243	24928											
MUC16	94025	broad.mit.edu	37	chr19	9084378	9084378	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaggcagtgtcagtgctGaccatggtgctgaaagttct	8	10	14	9	1	2	2	1	2	1	0	2	3	2	3	2	3	2	4	2	3	1	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:9084378G>T	ENST00000397910.4	-	1	7640	c.7437C>A	c.(7435-7437)gtC>gtA	p.V2479V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2479	Ser-rich.|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						TGTCAGTGCTGACCATGGTGC	0.512											OREG0006611	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	17	71					1.99824e-07	2.26561e-07	1	0	T	9084378	G	T	9084378	2	4	128	1	0	0	0	0	0	0	0	1	10043	1277	45	2		2	MUC16	19	9084378	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08		9084378	50044605	244	24929											
CC2D1A	54862	broad.mit.edu	37	chr19	14024096	14024096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacagcgccaagatgcggcGctacgatcgggggcttaaag	11	5	15	10	5	0	2	0	0	0	2	1	3	0	2	1	3	3	2	1	3	4	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:14024096G>C	ENST00000318003.7	+	5	735	c.494G>C	c.(493-495)cGc>cCc	p.R165P	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R165P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	165					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AAGATGCGGCGCTACGATCGG	0.617													20	46					0	0	0	0	C	14024096	G	C	14024096	3	2	128	1	0	0	0	0	1	0	0	0	2751	1087	38	3	512	3	CC2D1A	19	14024096	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	4939718	14024096	45104887	245	24930											
ZNF85	7639	broad.mit.edu	37	chr19	21131822	21131822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacagacatgagataagaCatactaaaaagaaacctttc	21	7	5	8	0	0	4	0	1	0	4	1	5	0	4	1	0	3	0	1	0	7	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:21131822C>A	ENST00000601023.1	+	2	971	c.325C>A	c.(325-327)Cat>Aat	p.H109N	ZNF85_ENST00000345030.6_Missense_Mutation_p.H135N|ZNF85_ENST00000328178.8_Missense_Mutation_p.H168N			Q03923	ZNF85_HUMAN	zinc finger protein 85	168						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TGAGATAAGACATACTAAAAA	0.308													7	99					0.000157383	0.000167806	1	0	A	21131822	C	A	21131822	3	1	128	1	0	0	0	0	1	0	0	0	18286	478	17	4	516	4	ZNF85	19	21131822	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	7107726	21131822	37997161	246	24931											
KIRREL2	84063	broad.mit.edu	37	chr19	36351851	36351859	+	In_Frame_Del	DEL	GGACGTGGG	GGACGTGGG	-																															aagccggagcccgtgtccgtGgacgtgggggaagacgcttc																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:36351851_36351859delGGACGTGGG	ENST00000360202.5	+	8	1167_1175	c.969_977delGGACGTGGG	c.(967-978)gtg>gt	p.VDVG323del	KIRREL2_ENST00000592409.1_In_Frame_Del_p.VDVG323del|KIRREL2_ENST00000347900.6_In_Frame_Del_p.VDVG273del|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_In_Frame_Del_p.VDVG323del|KIRREL2_ENST00000586102.2_In_Frame_Del_p.VDVG303del	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	323	Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGTGTCCGTGGACGTGGGGGAAGACGCT	0.66													9	44	---	---	---	---					-	36351859	GGACGTGGG	-	36351851	7	5	128	1	0	1	0	1	0	0	0	0	8377	1335	47	0	999	0	KIRREL2	19	36351851	In_Frame_Del	DEL	GGACGTGGG	TCGA-CN-A6V3-01A-12D-A34J-08	15220029	36351851	22777132	247	24932											
SLC8A2	6543	broad.mit.edu	37	chr19	47935700	47935700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcctcctcctcctcctcgtCccctgtgggcacacgaccca	4	9	7	21	2	0	0	0	0	0	0	7	1	6	0	8	1	0	1	8	1	0	0			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:47935700C>T	ENST00000236877.6	-	9	2508	c.2113G>A	c.(2113-2115)Gac>Aac	p.D705N	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Missense_Mutation_p.D461N|SLC8A2_ENST00000539381.1_Missense_Mutation_p.D168N	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	705					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TCCTCCTCGTCCCCTGTGGGC	0.592													21	63					0	0	0	0	T	47935700	C	T	47935700	3	4	128	1	0	0	0	0	1	0	0	0	14795	855	30	2	660	2	SLC8A2	19	47935700	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	11583849	47935700	11193283	248	24933											
LILRB5	10990	broad.mit.edu	37	chr19	54758782	54758782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggatgggctgccccctcCttggtcaaaaagaaagtgtc	9	8	14	10	0	1	1	1	0	0	1	3	2	2	2	3	4	1	1	3	4	3	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:54758782C>T	ENST00000450632.1	-	6	1121	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	LILRB5_ENST00000316219.5_Silent_p.K357K|LILRB5_ENST00000449561.2_Silent_p.K357K|LILRB5_ENST00000345866.6_Silent_p.K257K			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	357	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGCCCCCTCCTTGGTCAAAA	0.572													14	56					0	0	0	0	T	54758782	C	T	54758782	2	4	128	1	0	0	0	0	0	0	0	1	8848	680	24	4		4	LILRB5	19	54758782	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	6823082	54758782	4370201	249	24934											
NLRP2	55655	broad.mit.edu	37	chr19	55495054	55495054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaataaaggagaatctccCggagaatgtcactgcgtctg	12	9	12	8	2	3	2	1	0	2	2	4	4	3	2	1	3	1	1	1	3	5	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:55495054C>T	ENST00000543010.1	+	6	2131	c.1988C>T	c.(1987-1989)cCg>cTg	p.P663L	NLRP2_ENST00000448584.2_Missense_Mutation_p.P663L|NLRP2_ENST00000538819.1_Missense_Mutation_p.P639L|NLRP2_ENST00000537859.1_Missense_Mutation_p.P641L|NLRP2_ENST00000427260.2_Missense_Mutation_p.P640L|NLRP2_ENST00000263437.6_Missense_Mutation_p.P660L|NLRP2_ENST00000339757.7_Missense_Mutation_p.P641L|NLRP2_ENST00000391721.4_Missense_Mutation_p.P639L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	663					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGAATCTCCCGGAGAATGTC	0.493													14	79					0	0	0	0	T	55495054	C	T	55495054	3	4	128	1	0	0	0	0	1	0	0	0	10547	652	23	1	2006	1	NLRP2	19	55495054	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	736272	55495054	3633929	250	24935											
ZNF835	90485	broad.mit.edu	37	chr19	57175946	57175946	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccggtgctgggtcaggtgCgtgacgcgcgtgaaggcctt	4	8	18	11	6	1	2	1	2	0	0	1	2	1	2	2	4	2	1	2	4	1	1			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:57175946C>A	ENST00000537055.2	-	2	852	c.621G>T	c.(619-621)acG>acT	p.T207T		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGGTCAGGTGCGTGACGCGCG	0.721													4	19					0.150653	0.151595	1	0	A	57175946	C	A	57175946	2	1	128	1	0	0	0	0	0	0	0	1	18279	755	27	3		3	ZNF835	19	57175946	Silent	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08	1680892	57175946	1953037	251	24936											
ZNF550	162972	broad.mit.edu	37	chr19	58058921	58058921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacatgcattgcattcatAgggtttcattccagtgtgaa	10	13	8	10	0	2	1	2	1	0	0	3	1	3	1	2	1	2	3	2	1	2	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:58058921A>G	ENST00000325134.5	-	3	751	c.595T>C	c.(595-597)Tat>Cat	p.Y199H	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.Y190H|ZNF550_ENST00000457177.1_Missense_Mutation_p.Y231H			Q7Z398	ZN550_HUMAN	zinc finger protein 550	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		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;0.026)		TTGCATTCATAGGGTTTCATT	0.488													30	107					0	0	0	0	G	58058921	A	G	58058921	3	3	128	1	0	0	0	0	1	0	0	0	18077	420	15	5	581	5	ZNF550	19	58058921	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	882975	58058921	1070062	252	24937											
PLCB4	5332	broad.mit.edu	37	chr20	9404414	9404414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatcctgccggacctggCtgtcttgagaatagctgtgt	6	12	14	9	1	1	2	0	2	1	1	2	4	2	3	3	3	2	2	3	3	2	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:9404414C>A	ENST00000378501.2	+	24	2318	c.2303C>A	c.(2302-2304)gCt>gAt	p.A768D	PLCB4_ENST00000378493.1_Missense_Mutation_p.A768D|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.A780D|PLCB4_ENST00000334005.3_Missense_Mutation_p.A768D|PLCB4_ENST00000278655.4_Missense_Mutation_p.A768D|PLCB4_ENST00000414679.2_Missense_Mutation_p.A780D	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	768	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCGGACCTGGCTGTCTTGAGA	0.498													21	32					1.96895e-08	2.27241e-08	1	0	A	9404414	C	A	9404414	3	1	128	1	0	0	0	0	1	0	0	0	12102	797	28	4	2437	4	PLCB4	20	9404414	Missense_Mutation	SNP	C	TCGA-CN-A6V3-01A-12D-A34J-08		9404414	53621106	253	24938											
DSTN	11034	broad.mit.edu	37	chr20	17581415	17581434	+	Frame_Shift_Del	DEL	TCGCATTTTTTATGACATGA	TCGCATTTTTTATGACATGA	-																															caagtagctgatgaagtatgTcgcattttttatgacatgaa																								rs149992120		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:17581415_17581434delTCGCATTTTTTATGACATGA	ENST00000246069.6	+	2	382_401	c.36_55delTCGCATTTTTTATGACATGA	c.(34-57)tgaafs	p.CRIFYDMK12fs	DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Start_Codon_Del	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	12	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						ATGAAGTATGTCGCATTTTTTATGACATGAAAGTTCGTAA	0.341													13	37	---	---	---	---					-	17581434	TCGCATTTTTTATGACATGA	-	17581415	7	5	128	1	0	1	0	1	0	0	0	0	4820	1673	58	0	42	0	DSTN	20	17581415	Frame_Shift_Del	DEL	TCGCATTTTTTATGACATGA	TCGA-CN-A6V3-01A-12D-A34J-08	8177001	17581415	45444105	254	24939											
DHX35	60625	broad.mit.edu	37	chr20	37631503	37631503	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagacgttttagcatttcttActggccaggtaatgccactg	9	13	10	9	1	1	1	0	0	1	1	1	2	1	1	2	2	3	3	2	2	3	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:37631503A>G	ENST00000252011.3	+	10	877	c.844A>G	c.(844-846)Act>Gct	p.T282A	DHX35_ENST00000373323.4_Missense_Mutation_p.T251A|DHX35_ENST00000373325.2_Missense_Mutation_p.T282A	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	282	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AGCATTTCTTACTGGCCAGGT	0.398													32	102					0	0	0	0	G	37631503	A	G	37631503	3	3	128	1	0	0	0	0	1	0	0	0	4545	391	14	5	882	5	DHX35	20	37631503	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	20050088	37631503	25394017	255	24940											
NCOA3	8202	broad.mit.edu	37	chr20	46277841	46277841	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcctatgatgcagccccaGgtgagctcccaggtgaggat	9	7	14	11	0	0	3	0	3	0	0	1	4	1	4	4	4	3	2	4	4	1	1	rs139542333		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:46277841G>A	ENST00000372004.3	+	19	3855	c.3639_splice	c.e19+1	p.Q1213_splice	NCOA3_ENST00000341724.6_Splice_Site_p.Q1143_splice|NCOA3_ENST00000371997.3_Splice_Site_p.Q1208_splice|NCOA3_ENST00000371998.3_Silent_p.Q1213Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1217	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGCAGCCCCAGgtgagctccc	0.512													19	46					0	0	0	0	A	46277841	G	A	46277841	5	1	128	1	0	0	0	0	0	0	1	0	10300	1014	35	4	3735	4	NCOA3	20	46277841	Splice_Site	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	8646338	46277841	16747679	256	24941											
SULF2	55959	broad.mit.edu	37	chr20	46292260	46292260	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacgtgaggcctggcaTgctgcacgtgtcgttgttct	6	11	14	10	3	1	1	0	1	1	0	2	2	1	1	1	2	3	6	1	2	1	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:46292260T>C	ENST00000359930.4	-	16	3015	c.2164A>G	c.(2164-2166)Atg>Gtg	p.M722V	SULF2_ENST00000484875.1_Missense_Mutation_p.M722V|SULF2_ENST00000467815.1_Missense_Mutation_p.M722V|SULF2_ENST00000361612.4_Missense_Mutation_p.M722V	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	722					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGGCCTGGCATGCTGCACGTG	0.617											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	79	135					0	0	0	0	C	46292260	T	C	46292260	3	2	128	1	0	0	0	0	1	0	0	0	15461	1464	51	5	472	5	SULF2	20	46292260	Missense_Mutation	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	14419	46292260	16733260	257	24942											
COL20A1	57642	broad.mit.edu	37	chr20	61950909	61950909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaggccaccttcgacccGcaggaagtgaggaagatttt	11	7	13	10	2	0	2	0	1	0	1	1	6	0	5	3	4	0	1	3	4	2	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:61950909G>A	ENST00000422202.1	+	22	2966	c.2898G>A	c.(2896-2898)ccG>ccA	p.P966P	COL20A1_ENST00000435874.1_Silent_p.P966P|COL20A1_ENST00000326996.6_Silent_p.P959P|COL20A1_ENST00000358894.6_Silent_p.P959P			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	959	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTTCGACCCGCAGGAAGTGA	0.652													3	9					0	0	0	0	A	61950909	G	A	61950909	2	1	128	1	0	0	0	0	0	0	0	1	3709	1074	38	1		1	COL20A1	20	61950909	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	15658649	61950909	1074611	258	24943											
TPTE	7179	broad.mit.edu	37	chr21	10914419	10914419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttttctccatttctatttGgatttttagatcacgtacat	8	21	4	8	1	3	1	1	0	2	1	4	2	3	2	1	1	1	1	1	1	3	9			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr21:10914419G>T	ENST00000298232.7	-	20	1613	c.1246C>A	c.(1246-1248)Caa>Aaa	p.Q416K	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.Q434K|TPTE_ENST00000342420.5_Missense_Mutation_p.Q396K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	434	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTCTATTTGGATTTTTAGA	0.313													7	116					5.18039e-06	5.75202e-06	1	0	T	10914419	G	T	10914419	3	4	128	1	0	0	0	0	1	0	0	0	16525	1357	47	4	371	4	TPTE	21	10914419	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08		10914419	37215476	259	24944											
CABIN1	23523	broad.mit.edu	37	chr22	24567837	24567837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcgccctgcactagctGccgccacaactattatcacc	9	8	6	18	2	1	0	1	0	0	0	2	0	1	0	5	0	5	2	5	0	4	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr22:24567837G>T	ENST00000398319.2	+	34	6299	c.5914G>T	c.(5914-5916)Gcc>Tcc	p.A1972S	CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000337989.7_Missense_Mutation_p.A397S|CABIN1_ENST00000405822.2_Missense_Mutation_p.A1893S|CABIN1_ENST00000263119.5_Missense_Mutation_p.A1972S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1972					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCACTAGCTGCCGCCACAAC	0.632													19	47					6.94344e-10	8.25014e-10	1	0	T	24567837	G	T	24567837	3	4	128	1	0	0	0	0	1	0	0	0	2553	1319	46	4	6044	4	CABIN1	22	24567837	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08		24567837	26736729	260	24945											
XPNPEP3	63929	broad.mit.edu	37	chr22	41305234	41305234	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaaaaataatcaactcAtcaaggtacgtgagatgccc	16	9	8	8	1	3	2	3	2	0	1	3	3	3	2	1	1	3	1	1	1	6	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr22:41305234A>G	ENST00000357137.4	+	6	1048	c.964A>G	c.(964-966)Atc>Gtc	p.I322V	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I299V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	322					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TAATCAACTCATCAAGGTACG	0.483													21	78					0	0	0	0	G	41305234	A	G	41305234	3	3	128	1	0	0	0	0	1	0	0	0	17540	217	8	5	986	5	XPNPEP3	22	41305234	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	16737397	41305234	9999332	261	24946											
DMD	1756	broad.mit.edu	37	chrX	32716089	32716089	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggggaagaagttctctcAtatccctgtgctagactgac	10	12	10	9	0	2	3	1	1	1	2	4	4	3	4	1	2	1	2	1	2	5	4			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:32716089A>T	ENST00000357033.4	-	9	1064	c.858T>A	c.(856-858)taT>taA	p.Y286*	DMD_ENST00000378677.2_Nonsense_Mutation_p.Y282*|DMD_ENST00000288447.4_Nonsense_Mutation_p.Y278*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	286					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTTCTCTCATATCCCTGTG	0.507													9	8					0	0	0	0	T	32716089	A	T	32716089	4	4	128	1	0	0	0	0	0	1	0	0	4617	224	8	5	10726	5	DMD	23	32716089	Nonsense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08		32716089	122554471	262	24947											
FAM47C	442444	broad.mit.edu	37	chrX	37027835	37027835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggagtgtcccatctccGcccagagcctcccaagactc	8	7	9	17	1	1	2	0	0	1	2	5	4	3	3	5	1	1	0	5	1	1	0			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:37027835G>T	ENST00000358047.3	+	1	1404	c.1352G>T	c.(1351-1353)cGc>cTc	p.R451L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	451								p.R451P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCATCTCCGCCCAGAGCCT	0.617													35	35					6.05902e-23	8.55704e-23	1	0	T	37027835	G	T	37027835	3	4	128	1	0	0	0	0	1	0	0	0	5618	1087	38	3	1354	3	FAM47C	23	37027835	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	4311746	37027835	118242725	263	24948											
DDX3X	1654	broad.mit.edu	37	chrX	41201809	41201809	+	Frame_Shift_Del	DEL	T	T	-																															gccgtggtgacagaagtggcTttggcaaatttgaacgtggt																										TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:41201809delT	ENST00000399959.2	+	5	1201	c.346delT	c.(346-348)ttfs	p.F116fs	DDX3X_ENST00000542215.1_Frame_Shift_Del_p.F160fs|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.F100fs|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	116					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CAGAAGTGGCTTTGGCAAATT	0.448										HNSCC(61;0.18)			27	41	---	---	---	---					-	41201809	T	-	41201809	7	5	128	1	0	1	0	1	0	0	0	0	4390	1609	56	0	364	0	DDX3X	23	41201809	Frame_Shift_Del	DEL	T	TCGA-CN-A6V3-01A-12D-A34J-08	4173974	41201809	114068751	264	24949											
CACNA1F	778	broad.mit.edu	37	chrX	49066462	49066462	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgcttccagatctttttGatgacaatccgcagctcctg	8	13	7	13	2	1	3	0	2	1	1	5	3	5	3	4	0	1	3	4	0	1	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:49066462G>T	ENST00000376265.2	-	40	4723	c.4662C>A	c.(4660-4662)atC>atA	p.I1554I	CACNA1F_ENST00000376251.1_Silent_p.I1489I|CACNA1F_ENST00000323022.5_Silent_p.I1543I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1554					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AGATCTTTTTGATGACAATCC	0.597													14	72					2.61681e-11	3.24082e-11	1	0	T	49066462	G	T	49066462	2	4	128	1	0	0	0	0	0	0	0	1	2568	1280	45	2		2	CACNA1F	23	49066462	Silent	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	7864653	49066462	106204098	265	24950											
BMP15	9210	broad.mit.edu	37	chrX	50654065	50654065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcaccattggggccaccatGgtgaggctggtgaagccctt	7	8	14	12	1	0	2	0	2	0	0	0	2	0	2	4	5	1	2	4	5	1	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:50654065G>A	ENST00000252677.3	+	1	282	c.282G>A	c.(280-282)atG>atA	p.M94I		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	94					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GGGCCACCATGGTGAGGCTGG	0.587													3	4					0	0	0	0	A	50654065	G	A	50654065	3	1	128	1	0	0	0	0	1	0	0	0	1463	1348	47	4	284	4	BMP15	23	50654065	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	1587603	50654065	104616495	266	24951											
ARHGEF9	23229	broad.mit.edu	37	chrX	62875463	62875463	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttcttggcaaagaacAgatgtatctcctcagtctcc	10	11	7	13	0	4	2	1	0	3	2	6	2	4	2	3	1	2	3	3	1	3	3			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:62875463A>G	ENST00000253401.6	-	8	2011	c.1211T>C	c.(1210-1212)cTg>cCg	p.L404P	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.L402P|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.L351P|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.L302P|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.L131P|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.L383P	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	404	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GGCAAAGAACAGATGTATCTC	0.423													14	98					0	0	0	0	G	62875463	A	G	62875463	3	3	128	1	0	0	0	0	1	0	0	0	914	188	7	5	351	5	ARHGEF9	23	62875463	Missense_Mutation	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	12221398	62875463	92395097	267	24952											
PCDH11X	27328	broad.mit.edu	37	chrX	91090570	91090570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggtgttccactctggcGcccaggagaaaaactacacc	10	7	11	13	2	1	1	0	0	1	1	2	2	2	1	3	3	2	1	3	3	3	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:91090570G>A	ENST00000373094.1	+	1	912	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	PCDH11X_ENST00000373097.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A23T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A23T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A23T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	23					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCACTCTGGCGCCCAGGAGAA	0.473													42	32					0	0	0	0	A	91090570	G	A	91090570	3	1	128	1	0	0	0	0	1	0	0	0	11579	1087	38	1	69	1	PCDH11X	23	91090570	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	28215107	91090570	64179990	268	24953											
PCDH11X	27328	broad.mit.edu	37	chrX	91090650	91090650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgaaagaccttaacttGtcgctgattccaaacaagtc	12	13	7	9	1	0	3	0	2	0	1	3	3	1	3	2	0	2	2	2	0	4	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:91090650G>T	ENST00000373094.1	+	1	992	c.147G>T	c.(145-147)ttG>ttT	p.L49F	PCDH11X_ENST00000373097.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.L49F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L49F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000504220.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L49F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	49	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACCTTAACTTGTCGCTGATTC	0.478													34	34					1.22384e-17	1.63517e-17	1	0	T	91090650	G	T	91090650	3	4	128	1	0	0	0	0	1	0	0	0	11579	1368	48	4	149	4	PCDH11X	23	91090650	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	80	91090650	64179910	269	24954											
SYTL4	94121	broad.mit.edu	37	chrX	99945602	99945602	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacatcttcttccattcTggaaagaggccagatttatc	11	12	8	10	0	3	3	0	0	3	3	5	4	4	4	2	2	0	1	2	2	2	5			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:99945602T>C	ENST00000372981.1	-	7	861	c.675A>G	c.(673-675)ccA>ccG	p.P225P	SYTL4_ENST00000455616.1_Silent_p.P225P|SYTL4_ENST00000372989.1_Silent_p.P225P|SYTL4_ENST00000263033.5_Silent_p.P225P|SYTL4_ENST00000454200.2_Silent_p.P226P|SYTL4_ENST00000276141.6_Silent_p.P225P			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	225					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTCCATTCTGGAAAGAGGC	0.458													20	25					0	0	0	0	C	99945602	T	C	99945602	2	2	128	1	0	0	0	0	0	0	0	1	15576	1567	55	5		5	SYTL4	23	99945602	Silent	SNP	T	TCGA-CN-A6V3-01A-12D-A34J-08	8854952	99945602	55324958	270	24955											
CNGA2	1260	broad.mit.edu	37	chrX	150912245	150912245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaccaataagaagacagtgGatgagcgagaaattctcaag	17	6	12	6	1	1	4	1	1	1	3	2	7	1	6	1	2	1	0	1	2	5	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:150912245G>A	ENST00000329903.4	+	6	1303	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	424					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGACAGTGGATGAGCGAGA	0.483													19	23					0	0	0	0	A	150912245	G	A	150912245	3	1	128	1	0	0	0	0	1	0	0	0	3627	1174	41	2	1292	2	CNGA2	23	150912245	Missense_Mutation	SNP	G	TCGA-CN-A6V3-01A-12D-A34J-08	50966643	150912245	4358315	271	24956											
CTAG2	30848	broad.mit.edu	37	chrX	153880551	153880551	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcagtcggctaaatgtgAggggcagagaacatcacatt	13	8	12	8	1	2	2	2	1	0	1	3	3	2	2	0	3	1	2	0	3	3	2			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:153880551A>T	ENST00000247306.4	-	2	687	c.624T>A	c.(622-624)ccT>ccA	p.P208P	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	208						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTAAATGTGAGGGGCAGAGA	0.592													28	29					0	0	0	0	T	153880551	A	T	153880551	2	4	128	1	0	0	0	0	0	0	0	1	4023	291	11	5		5	CTAG2	23	153880551	Silent	SNP	A	TCGA-CN-A6V3-01A-12D-A34J-08	2968306	153880551	1390009	272	24957											
RSC1A1	6248	broad.mit.edu	37	chr1	15986468	15986468	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgctcgctctgtctctgcTtcagtctgccctatcaagcc	4	14	7	16	1	5	0	2	0	3	0	7	0	5	0	2	0	4	3	2	0	2	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:15986468T>G	ENST00000345034.1	+	1	105	c.105T>G	c.(103-105)gcT>gcG	p.A35A	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	35					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCTCTGCTTCAGTCTGCC	0.473													54	233					0	0	0	0	G	15986468	T	G	15986468	2	3	129	1	0	0	0	0	0	0	0	1	13783	1596	56	5		5	RSC1A1	1	15986468	Silent	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08		15986468	233264153	1	24958											
CSMD2	114784	broad.mit.edu	37	chr1	34011718	34011718	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccggagcacgtggccagCttcacagctgaagcgcatca	9	6	11	15	3	2	1	2	1	0	0	3	2	3	2	3	2	4	4	3	2	1	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:34011718C>A	ENST00000373381.4	-	57	9195	c.9019G>T	c.(9019-9021)Gct>Tct	p.A3007S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2980	Sushi 22.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACGTGGCCAGCTTCACAGCTG	0.602													8	59					1.06961e-07	1.08686e-07	1	0	A	34011718	C	A	34011718	3	1	129	1	0	0	0	0	1	0	0	0	3977	797	28	4	1932	4	CSMD2	1	34011718	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	18025250	34011718	215238903	2	24959											
ZC3H12A	80149	broad.mit.edu	37	chr1	37941403	37941403	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagacctcaccggacccCtgccctcagctccctctagt	6	7	7	21	2	3	1	2	0	1	1	4	2	4	2	7	1	2	1	7	1	1	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:37941403C>G	ENST00000373087.6	+	2	422	c.306C>G	c.(304-306)ccC>ccG	p.P102P		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	102					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACCGGACCCCTGCCCTCAGC	0.662													7	28					0	0	0	0	G	37941403	C	G	37941403	2	3	129	1	0	0	0	0	0	0	0	1	17656	668	24	4		4	ZC3H12A	1	37941403	Silent	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	3929685	37941403	211309218	3	24960											
BCAN	63827	broad.mit.edu	37	chr1	156626137	156626137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaggaggaaggggtccGctgcctatgtctgcctggct	6	8	18	9	1	1	0	0	0	1	0	2	4	2	4	3	7	2	2	3	7	2	1	rs138466651		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:156626137G>T	ENST00000329117.4	+	9	2342	c.2006G>T	c.(2005-2007)cGc>cTc	p.R669L	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	669	EGF-like.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAAGGGGTCCGCTGCCTATGT	0.637													12	169					3.27435e-08	3.38171e-08	1	0	T	156626137	G	T	156626137	3	4	129	1	0	0	0	0	1	0	0	0	1349	1087	38	3	2110	3	BCAN	1	156626137	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	118684734	156626137	92624484	4	24961											
CD1D	912	broad.mit.edu	37	chr1	158152778	158152778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtatgggtgaagtggatgCggggtgagcaggagcagcag	9	7	20	5	1	0	2	0	2	0	0	0	4	0	4	0	5	4	4	0	5	2	1	rs139209490	by1000genomes	TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:158152778C>T	ENST00000368171.3	+	5	1217	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	240	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAAGTGGATGCGGGGTGAGCA	0.632													4	170					0	0	0	0	T	158152778	C	T	158152778	3	4	129	1	0	0	0	0	1	0	0	0	3006	759	27	1	732	1	CD1D	1	158152778	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	1526641	158152778	91097843	5	24962											
MPZ	4359	broad.mit.edu	37	chr1	161276600	161276600	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtcactgtagtctaggtTgtgtatgacaatggagccat	10	14	11	6	0	2	1	1	1	1	0	2	2	2	2	1	2	1	3	1	2	4	5			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:161276600T>C	ENST00000533357.1	-	3	412	c.346A>G	c.(346-348)Aac>Gac	p.N116D	MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000360451.6_Missense_Mutation_p.N126D|MPZ_ENST00000336559.4_Missense_Mutation_p.N116D|MPZ_ENST00000491222.2_5'UTR	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	116	Ig-like V-type.		N -> H (in DSS; associated on the same allele as Thr-114 and Asn-128 in one patient).		synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			TAGTCTAGGTTGTGTATGACA	0.517													26	105					0	0	0	0	C	161276600	T	C	161276600	3	2	129	1	0	0	0	0	1	0	0	0	9818	1812	63	5	416	5	MPZ	1	161276600	Missense_Mutation	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	3123822	161276600	87974021	6	24963											
DDR2	4921	broad.mit.edu	37	chr1	162729614	162729614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagggctaggccaattgaccGatggtgtgtctggcctggac	8	9	15	9	1	1	1	0	1	1	0	1	3	1	2	3	5	0	1	3	5	3	2			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:162729614G>A	ENST00000367922.2	+	9	1138	c.700G>A	c.(700-702)Gat>Aat	p.D234N	DDR2_ENST00000367921.3_Missense_Mutation_p.D234N	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	234					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CCAATTGACCGATGGTGTGTC	0.542													23	78					0	0	0	0	A	162729614	G	A	162729614	3	1	129	1	0	0	0	0	1	0	0	0	4369	1058	37	1	722	1	DDR2	1	162729614	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	1453014	162729614	86521007	7	24964											
FMO2	2327	broad.mit.edu	37	chr1	171162507	171162507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccgagcaagtatctatCaatctgtcgttaccaacacc	12	10	7	12	2	3	0	1	0	2	0	4	1	3	0	3	1	3	3	3	1	6	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:171162507C>A	ENST00000441535.1	+	3	283	c.166C>A	c.(166-168)Caa>Aaa	p.Q56K	RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.Q56K|FMO2_ENST00000529935.1_3'UTR	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	56					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGTATCTATCAATCTGTCGT	0.353													49	176					1.67886e-27	1.808e-27	1	0	A	171162507	C	A	171162507	3	1	129	1	0	0	0	0	1	0	0	0	6000	827	29	2	172	2	FMO2	1	171162507	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	8432893	171162507	78088114	8	24965											
CR1	1378	broad.mit.edu	37	chr1	207679361	207679361	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgccgccctggttattcCggaagaccgttttctatcat	8	13	9	11	3	2	1	1	0	1	1	3	3	3	2	4	2	1	2	4	2	4	5	rs142605009	by1000genomes	TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:207679361C>T	ENST00000367049.4	+	2	234	c.234C>T	c.(232-234)tcC>tcT	p.S78S	CR1_ENST00000367051.1_Silent_p.S78S|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367053.1_Silent_p.S78S|CR1_ENST00000400960.2_Silent_p.S78S|CR1_ENST00000367052.1_Silent_p.S78S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	78	Sushi 1.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGGTTATTCCGGAAGACCGT	0.483													27	179					0	0	0	0	T	207679361	C	T	207679361	2	4	129	1	0	0	0	0	0	0	0	1	3870	639	23	1		1	CR1	1	207679361	Silent	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	36516854	207679361	41571260	9	24966											
PCNXL2	80003	broad.mit.edu	37	chr1	233134030	233134030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcacaggatgacacccCgtgctgagcaccgccttttc	7	9	8	17	2	1	2	1	2	0	0	2	3	1	3	5	1	2	2	5	1	0	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:233134030C>T	ENST00000258229.8	-	32	5992	c.5758G>A	c.(5758-5760)Ggg>Agg	p.G1920R	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G572R	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1920						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GATGACACCCCGTGCTGAGCA	0.612													8	31					0	0	0	0	T	233134030	C	T	233134030	3	4	129	1	0	0	0	0	1	0	0	0	11663	652	23	1	667	1	PCNXL2	1	233134030	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	25454669	233134030	16116591	10	24967											
HEATR1	55127	broad.mit.edu	37	chr1	236735738	236735738	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagttaaaaagagttggcAccaatatctgaggacttctg	14	10	10	7	0	2	2	0	1	2	1	2	3	2	3	1	2	0	4	1	2	6	4			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:236735738A>G	ENST00000366582.3	-	26	3794	c.3680T>C	c.(3679-3681)gTg>gCg	p.V1227A	HEATR1_ENST00000366581.2_Missense_Mutation_p.V1146A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1227					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAGAGTTGGCACCAATATCTG	0.398													9	144					0	0	0	0	G	236735738	A	G	236735738	3	3	129	1	0	0	0	0	1	0	0	0	7077	159	6	5	2834	5	HEATR1	1	236735738	Missense_Mutation	SNP	A	TCGA-CN-A6V6-01A-12D-A34J-08	3601708	236735738	12514883	11	24968											
PLD5	200150	broad.mit.edu	37	chr1	242511527	242511527	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaccagggcaaagatcacGatgcacttctgctgggactg	11	7	11	12	1	2	1	1	0	1	1	2	3	2	2	1	2	2	3	1	2	1	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:242511527G>A	ENST00000427495.1	-	2	146	c.21C>T	c.(19-21)atC>atT	p.I7I	PLD5_ENST00000442594.2_5'UTR|PLD5_ENST00000536534.1_Silent_p.I69I	NM_001195811.1|NM_001195812.1	NP_001182740.1|NP_001182741.1	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	69						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CAAAGATCACGATGCACTTCT	0.453													43	77					0	0	0	0	A	242511527	G	A	242511527	2	1	129	1	0	0	0	0	0	0	0	1	12121	1073	37	1		1	PLD5	1	242511527	Silent	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	5775789	242511527	6739094	12	24969											
AHCTF1	25909	broad.mit.edu	37	chr1	247016551	247016551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagagacaataggaccttCagagatagtgagcgaggagt	14	7	13	7	1	2	3	2	1	0	2	2	8	2	5	1	2	1	0	1	2	3	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:247016551C>T	ENST00000366508.1	-	32	4646	c.4510G>A	c.(4510-4512)Gaa>Aaa	p.E1504K	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.E1469K|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E1478K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1469	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATAGGACCTTCAGAGATAGTG	0.388													28	73					0	0	0	0	T	247016551	C	T	247016551	3	4	129	1	0	0	0	0	1	0	0	0	408	835	29	2	2415	2	AHCTF1	1	247016551	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	4505024	247016551	2234070	13	24970											
LHCGR	3973	broad.mit.edu	37	chr2	48914844	48914844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatgtaacagttaacactCtgtgtagcgagtcttgtcta	10	14	9	8	1	3	1	0	1	3	0	3	2	3	1	0	0	3	3	0	0	4	5			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:48914844C>T	ENST00000294954.7	-	11	2113	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.E671K|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.E636K	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	698					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGTTAACACTCTGTGTAGCGA	0.368													23	88					0	0	0	0	T	48914844	C	T	48914844	3	4	129	1	0	0	0	0	1	0	0	0	8816	922	32	2	11	2	LHCGR	2	48914844	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08		48914844	194284529	14	24971											
RANBP2	5903	broad.mit.edu	37	chr2	109370370	109370370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aattatctgagaaagaccagGgactacctaataaagattat	18	10	7	6	0	1	3	0	1	1	3	1	5	1	4	2	1	1	0	2	1	8	5			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:109370370G>A	ENST00000283195.6	+	15	2271	c.2145G>A	c.(2143-2145)agG>agA	p.R715R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	715					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAAGACCAGGGACTACCTAA	0.353													108	295					0	0	0	0	A	109370370	G	A	109370370	2	1	129	1	0	0	0	0	0	0	0	1	13110	1223	43	4		4	RANBP2	2	109370370	Silent	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	60455526	109370370	133829003	15	24972											
IMP4	92856	broad.mit.edu	37	chr2	131100505	131100505	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgtggaagcggcactcaaGatggtaggagaatgagctcc	12	6	14	9	2	1	3	1	1	0	2	2	5	2	4	1	4	2	3	1	4	4	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:131100505G>A	ENST00000259239.3	+	0	708				IMP4_ENST00000409935.1_De_novo_Start_InFrame	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)						rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					CGGCACTCAAGATGGTAGGAG	0.637													39	132					0	0	0	0	A	131100505	G	A	131100505	1	1	129	1	0	0	0	0	0	0	0	0	7773	957	33	2		2	IMP4	2	131100505	Translation_Start_Site	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	21730135	131100505	112098868	16	24973											
LRP1B	53353	broad.mit.edu	37	chr2	141250225	141250225	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagtgctaattttccttatCtcatgatgatcagcaagaat	12	15	6	8	0	3	3	3	2	1	1	5	3	4	3	1	0	2	2	1	0	4	4			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:141250225C>G	ENST00000389484.3	-	57	10043	c.9072G>C	c.(9070-9072)gaG>gaC	p.E3024D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3024					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTCCTTATCTCATGATGAT	0.348										TSP Lung(27;0.18)			51	113					0	0	0	0	G	141250225	C	G	141250225	3	3	129	1	0	0	0	0	1	0	0	0	9019	912	32	2	4867	2	LRP1B	2	141250225	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	10149720	141250225	101949148	17	24974											
CCDC141	285025	broad.mit.edu	37	chr2	179730506	179730506	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccacctcatttatctcGtctctcatggcgcagtactc	8	12	5	16	2	4	0	2	0	2	0	7	0	4	0	2	1	1	2	2	1	2	3	rs142544322		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:179730506G>A	ENST00000420890.2	-	17	2829	c.2712C>T	c.(2710-2712)gaC>gaT	p.D904D	CCDC141_ENST00000295723.5_Silent_p.D329D	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	329							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATTTATCTCGTCTCTCATGG	0.522													66	182					0	0	0	0	A	179730506	G	A	179730506	2	1	129	1	0	0	0	0	0	0	0	1	2800	1136	40	1		1	CCDC141	2	179730506	Silent	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	38480281	179730506	63468867	18	24975											
ITGA4	3676	broad.mit.edu	37	chr2	182374442	182374442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctgcttaccaccttggtCctcatgtcatcagtaaacga	11	11	7	12	1	3	0	3	0	0	0	4	1	4	0	3	1	4	3	3	1	4	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:182374442C>A	ENST00000397033.2	+	16	2183	c.1753C>A	c.(1753-1755)Cct>Act	p.P585T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	585					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCACCTTGGTCCTCATGTCAT	0.398													33	106					2.47316e-13	2.64083e-13	1	0	A	182374442	C	A	182374442	3	1	129	1	0	0	0	0	1	0	0	0	7931	855	30	2	1815	2	ITGA4	2	182374442	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	2643936	182374442	60824931	19	24976											
IKZF2	22807	broad.mit.edu	37	chr2	213914478	213914478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgagggcgtcccttcttCtacaggcgtagctacagaaa	9	10	11	11	2	2	2	0	1	2	1	3	2	3	2	1	2	3	2	1	2	4	5			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:213914478C>T	ENST00000457361.1	-	5	701	c.533G>A	c.(532-534)aGa>aAa	p.R178K	IKZF2_ENST00000451136.2_Missense_Mutation_p.R152K|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000413091.3_Missense_Mutation_p.R178K|IKZF2_ENST00000434687.1_Missense_Mutation_p.R178K|IKZF2_ENST00000421754.2_Missense_Mutation_p.R152K|IKZF2_ENST00000374319.4_Missense_Mutation_p.R152K|IKZF2_ENST00000342002.2_Missense_Mutation_p.R184K	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GTCCCTTCTTCTACAGGCGTA	0.453													27	32					0	0	0	0	T	213914478	C	T	213914478	3	4	129	1	0	0	0	0	1	0	0	0	7668	913	32	2	1063	2	IKZF2	2	213914478	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	31540036	213914478	29284895	20	24977											
CTDSPL	10217	broad.mit.edu	37	chr3	38022299	38022299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggacctcatccccttctttGagggcctgagccgggaggac	6	9	13	13	1	2	2	1	2	1	0	3	5	3	5	5	4	1	0	5	4	0	2			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:38022299G>A	ENST00000443503.2	+	7	979	c.739G>A	c.(739-741)Gag>Aag	p.E247K	CTDSPL_ENST00000273179.5_Missense_Mutation_p.E258K|CTDSPL_ENST00000310189.3_3'UTR	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	258	FCP1 homology.					nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		CCCCTTCTTTGAGGGCCTGAG	0.612													16	73					0	0	0	0	A	38022299	G	A	38022299	3	1	129	1	0	0	0	0	1	0	0	0	4037	1291	45	2	802	2	CTDSPL	3	38022299	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08		38022299	160000131	21	24978											
KALRN	8997	broad.mit.edu	37	chr3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgagccctcggagtttgtgCgacttccagaatatggtgag	8	10	14	9	3	0	2	0	1	0	1	2	5	1	3	2	2	2	1	2	2	2	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:124418865C>T	ENST00000360013.3	+	56	8108	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597													4	179					0	0	0	0	T	124418865	C	T	124418865	4	4	129	1	0	0	0	0	0	1	0	0	8028	760	27	1	8359	1	KALRN	3	124418865	Nonsense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	86396566	124418865	73603565	22	24979											
ZBTB38	253461	broad.mit.edu	37	chr3	141164305	141164305	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccagagcccttccacactCaaaatgcacatgagatgtca	13	9	6	13	0	2	2	2	1	0	2	4	3	4	2	3	0	2	1	3	0	2	2			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:141164305C>T	ENST00000514251.1	+	4	3354	c.3075C>T	c.(3073-3075)ctC>ctT	p.L1025L	ZBTB38_ENST00000441582.2_Silent_p.L1025L|ZBTB38_ENST00000321464.5_Silent_p.L1026L			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1025					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CTTCCACACTCAAAATGCACA	0.552													7	85					0	0	0	0	T	141164305	C	T	141164305	2	4	129	1	0	0	0	0	0	0	0	1	17634	813	29	2		2	ZBTB38	3	141164305	Silent	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	16745440	141164305	56858125	23	24980											
VEPH1	79674	broad.mit.edu	37	chr3	157031490	157031490	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtcttctcccacagagCtctgaggaattgcacagaat	10	10	10	11	0	3	3	0	1	3	2	4	4	3	4	1	2	2	2	1	2	2	2			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:157031490C>A	ENST00000362010.2	-	11	2237	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S	RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.A644S|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	644						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCCCACAGAGCTCTGAGGAAT	0.478													6	110					0.00116845	0.00117779	1	0	A	157031490	C	A	157031490	3	1	129	1	0	0	0	0	1	0	0	0	17250	797	28	4	587	4	VEPH1	3	157031490	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	15867185	157031490	40990940	24	24981											
IFT80	57560	broad.mit.edu	37	chr3	160099295	160099295	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatttaaaacttaccatcAgaacttgtgaggacaaagct	15	13	6	7	0	1	2	1	1	0	1	1	3	1	3	1	1	4	1	1	1	6	6			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:160099295A>G	ENST00000326448.7	-	3	687	c.255T>C	c.(253-255)tcT>tcC	p.S85S	RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	85						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACTTACCATCAGAACTTGTGA	0.323													23	148					0	0	0	0	G	160099295	A	G	160099295	2	3	129	1	0	0	0	0	0	0	0	1	7617	175	7	5		5	IFT80	3	160099295	Silent	SNP	A	TCGA-CN-A6V6-01A-12D-A34J-08	3067805	160099295	37923135	25	24982											
DVL3	1857	broad.mit.edu	37	chr3	183882067	183882067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttcagctggtgtcagctGagggctcacacccagaccca	8	8	10	15	0	3	2	3	1	0	1	3	2	3	2	3	2	2	3	3	2	0	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:183882067G>A	ENST00000313143.3	+	3	492	c.244G>A	c.(244-246)Gag>Aag	p.E82K	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000462665.1_3'UTR|DVL3_ENST00000431765.1_Missense_Mutation_p.E82K	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	82	DIX.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGTGTCAGCTGAGGGCTCACA	0.577													18	165					0	0	0	0	A	183882067	G	A	183882067	3	1	129	1	0	0	0	0	1	0	0	0	4873	1291	45	2	254	2	DVL3	3	183882067	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	23782772	183882067	14140363	26	24983											
ATP13A4	84239	broad.mit.edu	37	chr3	193120555	193120555	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggccaactagggtcattTgccaagtccctctgccatat	8	10	11	12	0	2	0	1	0	1	0	3	0	3	0	4	3	3	0	4	3	4	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:193120555T>C	ENST00000342695.4	-	30	3799	c.3477A>G	c.(3475-3477)gcA>gcG	p.A1159A	ATP13A4_ENST00000392443.3_Silent_p.A1140A|ATP13A4_ENST00000400270.2_Silent_p.A175A|ATP13A4_ENST00000482964.1_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1159					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TAGGGTCATTTGCCAAGTCCC	0.483													33	138					0	0	0	0	C	193120555	T	C	193120555	2	2	129	1	0	0	0	0	0	0	0	1	1130	1799	63	5		5	ATP13A4	3	193120555	Silent	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	9238488	193120555	4901875	27	24984											
ALPK1	80216	broad.mit.edu	37	chr4	113359744	113359744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgacagaatttaacaagaGactctatgaacaaaacattc	18	10	6	7	0	1	4	0	2	1	2	2	5	1	4	0	0	3	0	0	0	7	4			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr4:113359744G>A	ENST00000458497.1	+	13	3572	c.3293G>A	c.(3292-3294)aGa>aAa	p.R1098K	ALPK1_ENST00000177648.9_Missense_Mutation_p.R1098K|ALPK1_ENST00000504176.2_Missense_Mutation_p.R1020K	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1098	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTTAACAAGAGACTCTATGAA	0.438													25	99					0	0	0	0	A	113359744	G	A	113359744	3	1	129	1	0	0	0	0	1	0	0	0	544	942	33	2	3335	2	ALPK1	4	113359744	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08		113359744	77794532	28	24985											
FSTL5	56884	broad.mit.edu	37	chr4	162841615	162841615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgttttttcaggcaagcaGctctgtgcacttcacagtgg	7	15	10	9	0	3	0	2	0	1	0	3	0	3	0	0	2	3	5	0	2	1	5			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr4:162841615G>A	ENST00000306100.5	-	4	786	c.350C>T	c.(349-351)gCt>gTt	p.A117V	FSTL5_ENST00000379164.4_Missense_Mutation_p.A116V|FSTL5_ENST00000536695.1_Missense_Mutation_p.A116V|FSTL5_ENST00000427802.2_Missense_Mutation_p.A116V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	117	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGGCAAGCAGCTCTGTGCAC	0.418													16	51					0	0	0	0	A	162841615	G	A	162841615	3	1	129	1	0	0	0	0	1	0	0	0	6128	971	34	4	2245	4	FSTL5	4	162841615	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	49481871	162841615	28312661	29	24986											
NAF1	92345	broad.mit.edu	37	chr4	164087806	164087806	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacggagccgccggacctTccccaactccaaagtcggtg	9	5	12	15	4	0	1	0	0	0	1	3	4	2	3	6	3	2	0	6	3	2	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr4:164087806T>C	ENST00000274054.2	-	1	267	c.74A>G	c.(73-75)gAa>gGa	p.E25G	NAF1_ENST00000422287.2_Missense_Mutation_p.E25G	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	25					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CGCCGGACCTTCCCCAACTCC	0.672													8	27					0	0	0	0	C	164087806	T	C	164087806	3	2	129	1	0	0	0	0	1	0	0	0	10210	1783	62	5	1583	5	NAF1	4	164087806	Missense_Mutation	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	1246191	164087806	27066470	30	24987											
TPPP	11076	broad.mit.edu	37	chr5	666136	666136	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgagcctgtgcacctcGcgaacggcctcctcgctgct	5	9	11	16	5	0	1	0	1	0	0	4	3	1	1	4	1	4	3	4	1	1	0			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr5:666136G>A	ENST00000360578.5	-	3	535	c.414C>T	c.(412-414)cgC>cgT	p.R138R	CEP72_ENST00000514507.1_3'UTR	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	138					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TGTGCACCTCGCGAACGGCCT	0.657													33	50					0	0	0	0	A	666136	G	A	666136	2	1	129	1	0	0	0	0	0	0	0	1	16508	1074	38	1		1	TPPP	5	666136	Silent	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08		666136	180249124	31	24988											
PAPD7	11044	broad.mit.edu	37	chr5	6754886	6754886	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcacaacggcatgaaactgtCcatgaagggctctcacggcc	11	6	11	13	2	1	2	1	2	1	0	3	2	2	2	2	3	2	3	2	3	3	0			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr5:6754886C>G	ENST00000230859.6	+	13	1586	c.1457C>G	c.(1456-1458)tCc>tGc	p.S486C		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	486					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGAAACTGTCCATGAAGGGC	0.612													4	30					0	0	0	0	G	6754886	C	G	6754886	3	3	129	1	0	0	0	0	1	0	0	0	11497	855	30	2	1503	2	PAPD7	5	6754886	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	6088750	6754886	174160374	32	24989											
IRF4	3662	broad.mit.edu	37	chr6	407527	407527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacatttcctgaggggctacGatttaccagaacacatcagc	12	9	9	11	1	1	2	1	1	0	1	2	4	2	2	2	2	4	1	2	2	3	4			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:407527G>A	ENST00000380956.4	+	9	1411	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	429					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GAGGGGCTACGATTTACCAGA	0.363			T	IGH@	MM								91	48					0	0	0	0	A	407527	G	A	407527	3	1	129	1	0	0	0	0	1	0	0	0	7885	1058	37	1	1315	1	IRF4	6	407527	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08		407527	170707540	33	24990											
COL12A1	1303	broad.mit.edu	37	chr6	75898158	75898158	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctcattctgaatatccAcaattgcatcaaagttggcc	12	13	6	10	0	3	2	2	2	2	0	5	2	4	2	2	1	1	2	2	1	4	4			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:75898158A>G	ENST00000322507.8	-	8	1226	c.917T>C	c.(916-918)gTg>gCg	p.V306A	COL12A1_ENST00000483888.2_Missense_Mutation_p.V306A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.V306A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	306	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGAATATCCACAATTGCATC	0.418													8	161					0	0	0	0	G	75898158	A	G	75898158	3	3	129	1	0	0	0	0	1	0	0	0	3699	159	6	5	8510	5	COL12A1	6	75898158	Missense_Mutation	SNP	A	TCGA-CN-A6V6-01A-12D-A34J-08	75490631	75898158	95216909	34	24991											
RNF217	154214	broad.mit.edu	37	chr6	125379204	125379204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgcgtcactgggccagCgaaattgagcatgggcagag	9	9	15	8	2	1	2	1	1	0	1	1	3	1	2	1	2	3	3	1	2	1	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:125379204C>T	ENST00000521654.2	+	3	1233	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	RNF217_ENST00000275184.6_Silent_p.S55S|RNF217_ENST00000560949.1_Silent_p.S176S|RNF217_ENST00000359704.2_Silent_p.S119S|RNF217_ENST00000368414.2_5'UTR			Q8TC41	RN217_HUMAN	ring finger protein 217	119					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ACTGGGCCAGCGAAATTGAGC	0.448													17	48					0	0	0	0	T	125379204	C	T	125379204	2	4	129	1	0	0	0	0	0	0	0	1	13566	767	27	1		1	RNF217	6	125379204	Silent	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	49481046	125379204	45735863	35	24992											
PTPRK	5796	broad.mit.edu	37	chr6	128326338	128326338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgcattcaccatgtgagtCatctcctgccgggtattccc	7	13	8	13	1	3	1	2	1	1	0	5	1	4	1	4	1	2	2	4	1	1	4			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:128326338C>T	ENST00000368227.3	-	15	2751	c.2385G>A	c.(2383-2385)atG>atA	p.M795I	PTPRK_ENST00000368210.3_Missense_Mutation_p.M795I|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Missense_Mutation_p.M795I|PTPRK_ENST00000368213.5_Missense_Mutation_p.M795I|PTPRK_ENST00000368215.3_Missense_Mutation_p.M794I|PTPRK_ENST00000368226.4_Missense_Mutation_p.M795I|PTPRK_ENST00000368207.3_Missense_Mutation_p.M805I			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	794					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCATGTGAGTCATCTCCTGCC	0.458													18	55					0	0	0	0	T	128326338	C	T	128326338	3	4	129	1	0	0	0	0	1	0	0	0	12887	826	29	2	2023	2	PTPRK	6	128326338	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	2947134	128326338	42788729	36	24993											
ENPP1	5167	broad.mit.edu	37	chr6	132201045	132201045	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attattaagcatgaaactttAccctatggaagacctagagt	15	12	7	7	0	0	3	0	1	0	2	0	4	0	4	2	1	3	1	2	1	7	6			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:132201045A>T	ENST00000360971.2	+	20	1991	c.1971A>T	c.(1969-1971)ttA>ttT	p.L657F		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	657	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATGAAACTTTACCCTATGGAA	0.378													57	63					0	0	0	0	T	132201045	A	T	132201045	3	4	129	1	0	0	0	0	1	0	0	0	5167	388	14	5	2049	5	ENPP1	6	132201045	Missense_Mutation	SNP	A	TCGA-CN-A6V6-01A-12D-A34J-08	3874707	132201045	38914022	37	24994											
STXBP5	134957	broad.mit.edu	37	chr6	147685192	147685192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgccccttaccaatatgCggatagccagaacgttctgc	10	10	8	13	2	1	1	0	0	1	1	1	2	1	2	4	1	6	1	4	1	5	5			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:147685192C>T	ENST00000367481.3	+	23	2971	c.2863C>T	c.(2863-2865)Cgg>Tgg	p.R955W	STXBP5_ENST00000321680.6_Missense_Mutation_p.R991W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W|STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	991					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.R955W(1)|p.R991W(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TACCAATATGCGGATAGCCAG	0.363													5	245					0	0	0	0	T	147685192	C	T	147685192	3	4	129	1	0	0	0	0	1	0	0	0	15446	759	27	1	3069	1	STXBP5	6	147685192	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	15484147	147685192	23429875	38	24995											
AGPAT4	56895	broad.mit.edu	37	chr6	161575173	161575173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacagctgctctggtgcCtacatacaaaatacttctcg	11	10	8	12	1	2	0	0	0	2	0	3	1	2	1	1	2	6	2	1	2	5	4			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:161575173C>T	ENST00000366906.5	-	3	452	c.332G>A	c.(331-333)aGg>aAg	p.R111K	AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000320285.4_Intron|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000457520.2_Intron			Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	173					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.?(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GCTCTGGTGCCTACATACAAA	0.582													24	24					0	0	0	0	T	161575173	C	T	161575173	3	4	129	1	0	0	0	0	1	0	0	0	389	696	24	4		4	AGPAT4	6	161575173	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	13889981	161575173	9539894	39	24996											
IL6	3569	broad.mit.edu	37	chr7	22767071	22767071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccggcacaggcgccttcGgtccagttgccttctccctg	3	10	10	18	3	1	0	0	0	1	0	5	0	3	0	6	3	1	2	6	3	0	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr7:22767071G>A	ENST00000404625.1	+	3	487	c.28G>A	c.(28-30)Ggt>Agt	p.G10S	AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Missense_Mutation_p.G10S|IL6_ENST00000420258.2_Missense_Mutation_p.G64S|IL6_ENST00000407492.1_Intron|IL6_ENST00000406575.1_Missense_Mutation_p.G10S|IL6_ENST00000401630.3_Intron|IL6_ENST00000401651.1_Intron			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	10					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	AGGCGCCTTCGGTCCAGTTGC	0.687											OREG0017891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	29					0	0	0	0	A	22767071	G	A	22767071	3	1	129	1	0	0	0	0	1	0	0	0	7754	1116	39	1	34	1	IL6	7	22767071	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08		22767071	136371592	40	24997											
GAL3ST4	79690	broad.mit.edu	37	chr7	99758242	99758242	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacaggatggatgagggcaTtgggattgagggtttgggct	10	10	18	3	0	0	2	0	2	0	0	0	5	0	5	0	6	1	3	0	6	1	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr7:99758242T>C	ENST00000360039.4	-	4	1162	c.770A>G	c.(769-771)aAt>aGt	p.N257S	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.N195S|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.M156V|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.N257S|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.M156V	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	257					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATGAGGGCATTGGGATTGAG	0.557													60	141					0	0	0	0	C	99758242	T	C	99758242	3	2	129	1	0	0	0	0	1	0	0	0	6249	1493	52	5	694	5	GAL3ST4	7	99758242	Missense_Mutation	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	76991171	99758242	59380421	41	24998											
RNF133	168433	broad.mit.edu	37	chr7	122338834	122338834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacacatgattcccaacatGaaatgatatgttcatataag	17	11	5	8	0	1	3	1	3	0	0	2	3	2	3	1	0	2	1	1	0	6	5			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr7:122338834G>A	ENST00000340112.2	-	1	376	c.139C>T	c.(139-141)Cat>Tat	p.H47Y	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	47						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TTCCCAACATGAAATGATATG	0.448													14	141					0	0	0	0	A	122338834	G	A	122338834	3	1	129	1	0	0	0	0	1	0	0	0	13524	1290	45	2	995	2	RNF133	7	122338834	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	22580592	122338834	36799829	42	24999											
LY6H	4062	broad.mit.edu	37	chr8	144240241	144240255	+	In_Frame_Del	DEL	GGACACTGGCACACA	GGACACTGGCACACA	-																															gctgctgggatcggtgattcGgacactggcacacaccgtgt																								rs151331428		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr8:144240241_144240255delGGACACTGGCACACA	ENST00000414417.2	-	4	448_462	c.215_229delTGTGTGCCAGTGTCC	c.(214-231)gga>g	p.VCASVR72del	LY6H_ENST00000430474.2_In_Frame_Del_p.VCASVR51del|LY6H_ENST00000342752.4_In_Frame_Del_p.VCASVR72del	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	51	UPAR/Ly6.				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCGGTGATTCGGACACTGGCACACACCGTGTCGGA	0.614													11	65	---	---	---	---					-	144240255	GGACACTGGCACACA	-	144240241	7	5	129	1	0	1	0	1	0	0	0	0	9162	1124	39	0	264	0	LY6H	8	144240241	In_Frame_Del	DEL	GGACACTGGCACACA	TCGA-CN-A6V6-01A-12D-A34J-08		144240241	2123781	43	25000											
ZNF658	26149	broad.mit.edu	37	chr9	40789482	40789483	+	Splice_Site	INS	-	-	A																															gtaatcctattcatgtgcctINSaaaaaaaaaaatcatcgcac																										TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr9:40789482_40789483insA	ENST00000602553.1	-	2	94		c.e2-2		ZNF658_ENST00000377626.3_Intron|ZNF658_ENST00000441795.1_Splice_Site			Q5TYW1	ZN658_HUMAN	zinc finger protein 658						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCATGTGCCTAAAAAAAAAAA	0.426													2	4	---	---	---	---					A	40789483	-	A	40789482	8	5	129	1	0	1	1	0	0	0	1	0	18164	1537	53	0		0	ZNF658	9	40789482	Splice_Site	INS	-	TCGA-CN-A6V6-01A-12D-A34J-08		40789482	100423949	44	25001											
CYLC2	1539	broad.mit.edu	37	chr9	105757679	105757679	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatgtctctcccaagatTgtaagtcaaattttatgttt	13	16	6	6	0	2	1	1	0	1	1	4	2	3	1	1	0	0	2	1	0	6	5			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr9:105757679T>C	ENST00000374798.3	+	1	87	c.17_splice	c.e1+1	p.F6_splice	CYLC2_ENST00000487798.1_Splice_Site_p.F6_splice	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	6					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CTCCCAAGATTGTAAGTCAAA	0.308													115	145					0	0	0	0	C	105757679	T	C	105757679	5	2	129	1	0	0	0	0	0	0	1	0	4174	1826	63	5	19	5	CYLC2	9	105757679	Splice_Site	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	64968197	105757679	35455752	45	25002											
MEGF9	1955	broad.mit.edu	37	chr9	123367875	123367875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtggtcaaagaggcatTggaaaccaaaatggtagaac	16	8	12	5	0	1	3	1	1	0	2	1	4	1	4	1	4	2	2	1	4	6	2			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr9:123367875T>C	ENST00000373930.3	-	6	1513	c.1402A>G	c.(1402-1404)Aat>Gat	p.N468D	MEGF9_ENST00000426959.1_Missense_Mutation_p.N505D	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	468						integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						AAAGAGGCATTGGAAACCAAA	0.363													10	6					0	0	0	0	C	123367875	T	C	123367875	3	2	129	1	0	0	0	0	1	0	0	0	9533	1812	63	5	410	5	MEGF9	9	123367875	Missense_Mutation	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	17610196	123367875	17845556	46	25003											
DNM1	1759	broad.mit.edu	37	chr9	131010933	131010933	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagctggaacggcaagtGgagaccatccggaatcttgt	11	7	12	11	2	1	1	0	0	1	1	2	4	2	3	3	4	2	2	3	4	3	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr9:131010933G>C	ENST00000341179.7	+	19	2069	c.1977G>C	c.(1975-1977)gtG>gtC	p.V659V	DNM1_ENST00000486160.1_Silent_p.V659V|DNM1_ENST00000393594.3_Silent_p.V659V|DNM1_ENST00000372923.3_Silent_p.V659V|DNM1_ENST00000475805.1_Silent_p.V659V	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	659	GED.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AACGGCAAGTGGAGACCATCC	0.537													24	258					0	0	0	0	C	131010933	G	C	131010933	2	2	129	1	0	0	0	0	0	0	0	1	4706	1335	47	4		4	DNM1	9	131010933	Silent	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	7643058	131010933	10202498	47	25004											
ITGA8	8516	broad.mit.edu	37	chr10	15760877	15760877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggtgttggctttgggCgcccccaccaagacactcgc	5	9	13	14	2	0	1	0	0	0	1	1	1	0	1	3	4	0	3	3	4	1	2			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr10:15760877C>T	ENST00000378076.3	-	2	584	c.231G>A	c.(229-231)gcG>gcA	p.A77A		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	77					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGGCTTTGGGCGCCCCCACCA	0.592													22	84					0	0	0	0	T	15760877	C	T	15760877	2	4	129	1	0	0	0	0	0	0	0	1	7935	755	27	1		1	ITGA8	10	15760877	Silent	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08		15760877	119773870	48	25005											
CTNNA3	29119	broad.mit.edu	37	chr10	68040264	68040264	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatctgatatcatgaatTgtatcatagatcttctttga	13	16	6	6	0	5	4	2	3	3	1	5	5	5	4	0	0	1	1	0	0	5	6			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr10:68040264T>C	ENST00000433211.1	-	13	2022	c.1848A>G	c.(1846-1848)acA>acG	p.T616T	CTNNA3_ENST00000373744.4_Silent_p.T616T	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	616					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.T616T(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TATCATGAATTGTATCATAGA	0.368													35	81					0	0	0	0	C	68040264	T	C	68040264	2	2	129	1	0	0	0	0	0	0	0	1	4046	1799	63	5		5	CTNNA3	10	68040264	Silent	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	52279387	68040264	67494483	49	25006											
RUFY2	55680	broad.mit.edu	37	chr10	70136632	70136632	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtttctccttttgggagaTttgtttctgcagactatcag	6	18	9	8	0	3	2	1	0	2	2	4	3	3	2	1	1	1	3	1	1	1	6			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr10:70136632T>C	ENST00000388768.2	-	13	1734	c.1408A>G	c.(1408-1410)Atc>Gtc	p.I470V	RUFY2_ENST00000265865.3_Missense_Mutation_p.I25V|RUFY2_ENST00000602465.1_Missense_Mutation_p.I435V	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	484						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TTTTGGGAGATTTGTTTCTGC	0.383													48	128					0	0	0	0	C	70136632	T	C	70136632	3	2	129	1	0	0	0	0	1	0	0	0	13824	1493	52	5	541	5	RUFY2	10	70136632	Missense_Mutation	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	2096368	70136632	65398115	50	25007											
MMRN2	79812	broad.mit.edu	37	chr10	88717142	88717142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggccctcttaccgtcctaCggggtccttgccggtgtcct	3	11	11	16	3	1	0	0	0	1	0	4	0	4	0	6	4	3	0	6	4	2	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr10:88717142C>T	ENST00000372027.4	-	1	230	c.157G>A	c.(157-159)Gta>Ata	p.V53I		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	53						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TACCGTCCTACGGGGTCCTTG	0.617													11	80					0	0	0	0	T	88717142	C	T	88717142	3	4	129	1	0	0	0	0	1	0	0	0	9741	536	19	1	2720	1	MMRN2	10	88717142	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	18580510	88717142	46817605	51	25008											
MKI67	4288	broad.mit.edu	37	chr10	129905282	129905282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctactttggcagttttatCgttagtcattgattcctcag	7	17	9	8	1	2	1	2	1	0	0	4	1	3	1	1	2	1	4	1	2	3	7			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr10:129905282C>T	ENST00000368654.3	-	13	5197	c.4822G>A	c.(4822-4824)Gat>Aat	p.D1608N	MKI67_ENST00000368653.3_Missense_Mutation_p.D1248N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1608	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCAGTTTTATCGTTAGTCATT	0.502													31	188					0	0	0	0	T	129905282	C	T	129905282	3	4	129	1	0	0	0	0	1	0	0	0	9667	884	31	1	4960	1	MKI67	10	129905282	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	41188140	129905282	5629465	52	25009											
CNGA4	1262	broad.mit.edu	37	chr11	6261426	6261426	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctacgtgcggctgggcccGcacacacccaccctgaggct	6	6	12	17	3	1	1	0	1	1	0	1	1	1	1	3	3	2	3	3	3	1	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr11:6261426G>A	ENST00000379936.2	+	4	517	c.402G>A	c.(400-402)ccG>ccA	p.P134P	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	134					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTGGGCCCGCACACACCCA	0.617													5	192					0	0	0	0	A	6261426	G	A	6261426	2	1	129	1	0	0	0	0	0	0	0	1	3629	1074	38	1		1	CNGA4	11	6261426	Silent	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08		6261426	128745090	53	25010											
RIC3	79608	broad.mit.edu	37	chr11	8161664	8161664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcggcaaggtgagacctctgGaaacgagccccaggagtctg	10	6	14	11	2	2	1	0	1	2	1	3	5	2	3	3	4	2	1	3	4	2	0			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr11:8161664G>T	ENST00000343202.4	-	2	266	c.201C>A	c.(199-201)ttC>ttA	p.F67L	RIC3_ENST00000309737.6_Missense_Mutation_p.F67L|RIC3_ENST00000425599.2_Missense_Mutation_p.F67L|RIC3_ENST00000419822.2_Missense_Mutation_p.F67L|RIC3_ENST00000539720.1_Missense_Mutation_p.F18L|RIC3_ENST00000335425.7_Intron	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	67						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GAGACCTCTGGAAACGAGCCC	0.507													28	70					4.22769e-11	4.43908e-11	1	0	T	8161664	G	T	8161664	3	4	129	1	0	0	0	0	1	0	0	0	13437	1165	41	2	925	2	RIC3	11	8161664	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	1900238	8161664	126844852	54	25011											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57070255	57070255	+	Frame_Shift_Del	DEL	C	C	-																															ccagcatctcctccagcaggCcctgggagccggagggtggg																										TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr11:57070255delC	ENST00000532437.1	-	6	4672	c.4361delG	c.(4360-4362)gcfs	p.G1454fs	TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.G1454fs			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1454	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCCAGCAGGCCCTGGGAGCC	0.692													2	4	---	---	---	---					-	57070255	C	-	57070255	7	5	129	1	0	1	0	1	0	0	0	0	16414	739	26	0	848	0	TNKS1BP1	11	57070255	Frame_Shift_Del	DEL	C	TCGA-CN-A6V6-01A-12D-A34J-08	48908591	57070255	77936261	55	25012											
CTNND1	1500	broad.mit.edu	37	chr11	57573390	57573390	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccttcttcggaacttaTcatatcaagttcaccgggag	9	14	8	10	2	4	0	3	0	1	0	5	2	4	2	2	2	2	1	2	2	4	6			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr11:57573390T>C	ENST00000524630.1	+	10	2272	c.1759T>C	c.(1759-1761)Tca>Cca	p.S587P	CTNND1_ENST00000532649.1_Missense_Mutation_p.S533P|CTNND1_ENST00000399050.4_Missense_Mutation_p.S587P|CTNND1_ENST00000528621.1_Missense_Mutation_p.S533P|CTNND1_ENST00000528232.1_Missense_Mutation_p.S486P|CTNND1_ENST00000532245.1_Missense_Mutation_p.S486P|CTNND1_ENST00000399039.4_Missense_Mutation_p.S587P|CTNND1_ENST00000531014.1_Missense_Mutation_p.S264P|CTNND1_ENST00000526772.1_Missense_Mutation_p.S264P|CTNND1_ENST00000532844.1_Missense_Mutation_p.S533P|CTNND1_ENST00000361332.4_Missense_Mutation_p.S587P|CTNND1_ENST00000530748.1_Missense_Mutation_p.S533P|CTNND1_ENST00000526938.1_Missense_Mutation_p.S587P|CTNND1_ENST00000534579.1_Missense_Mutation_p.S533P|CTNND1_ENST00000532787.1_Missense_Mutation_p.S486P|CTNND1_ENST00000529526.1_Missense_Mutation_p.S533P|CTNND1_ENST00000533667.1_Missense_Mutation_p.S264P|CTNND1_ENST00000358694.6_Missense_Mutation_p.S587P|CTNND1_ENST00000530094.1_Missense_Mutation_p.S486P|CTNND1_ENST00000361391.6_Missense_Mutation_p.S587P|CTNND1_ENST00000426142.2_Missense_Mutation_p.S486P|CTNND1_ENST00000525902.1_Missense_Mutation_p.S264P|CTNND1_ENST00000529919.1_Missense_Mutation_p.S587P|CTNND1_ENST00000529986.1_Missense_Mutation_p.S486P|CTNND1_ENST00000361796.4_Missense_Mutation_p.S587P|CTNND1_ENST00000526357.1_Missense_Mutation_p.S533P|CTNND1_ENST00000529873.1_Missense_Mutation_p.S533P|CTNND1_ENST00000532463.1_Missense_Mutation_p.S486P|CTNND1_ENST00000428599.2_Missense_Mutation_p.S587P|CTNND1_ENST00000415361.2_Missense_Mutation_p.S486P|CTNND1_ENST00000527467.1_Missense_Mutation_p.S264P|CTNND1_ENST00000360682.6_Missense_Mutation_p.S587P			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	587					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TCGGAACTTATCATATCAAGT	0.463													9	27					0	0	0	0	C	57573390	T	C	57573390	3	2	129	1	0	0	0	0	1	0	0	0	4051	1435	50	5	1789	5	CTNND1	11	57573390	Missense_Mutation	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	503135	57573390	77433126	56	25013											
OR4D10	390197	broad.mit.edu	37	chr11	59245409	59245409	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcccactccctttctgCggacccaatgttcttgacac	6	13	6	16	1	2	1	0	1	2	0	4	2	4	2	3	1	2	2	3	1	1	4			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr11:59245409C>T	ENST00000530162.1	+	1	564	c.507C>T	c.(505-507)tgC>tgT	p.C169C		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCCTTTCTGCGGACCCAATG	0.498													47	112					0	0	0	0	T	59245409	C	T	59245409	2	4	129	1	0	0	0	0	0	0	0	1	11125	776	27	1		1	OR4D10	11	59245409	Silent	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	1672019	59245409	75761107	57	25014											
CACNA1C	775	broad.mit.edu	37	chr12	2622102	2622102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcactcaggccgaagacatcGatcctgagaatgaggacgaa	14	6	11	10	3	2	3	2	2	0	2	4	8	3	4	2	2	0	0	2	2	3	0			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:2622102G>A	ENST00000399655.1	+	9	1607	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	CACNA1C_ENST00000480911.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D448N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D448N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D448N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D448N	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	448					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGAAGACATCGATCCTGAGAA	0.567													10	13					0	0	0	0	A	2622102	G	A	2622102	3	1	129	1	0	0	0	0	1	0	0	0	2565	1058	37	1	1484	1	CACNA1C	12	2622102	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08		2622102	131229793	58	25015											
PLEKHG6	55200	broad.mit.edu	37	chr12	6435720	6435720	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgccttccctggagggctctCagagcagcgcagaggggagg	7	5	17	12	2	1	2	1	0	1	2	3	4	2	4	2	5	2	3	2	5	0	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:6435720C>T	ENST00000449001.2	+	13	2049	c.1555C>T	c.(1555-1557)Cag>Tag	p.Q519*	PLEKHG6_ENST00000396988.3_Nonsense_Mutation_p.Q551*|PLEKHG6_ENST00000011684.7_Nonsense_Mutation_p.Q551*|PLEKHG6_ENST00000304581.8_Nonsense_Mutation_p.Q81*	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	551					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GGAGGGCTCTCAGAGCAGCGC	0.597													17	23					0	0	0	0	T	6435720	C	T	6435720	4	4	129	1	0	0	0	0	0	1	0	0	12146	827	29	2	1747	2	PLEKHG6	12	6435720	Nonsense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	3813618	6435720	127416175	59	25016											
MRPL51	51258	broad.mit.edu	37	chr12	6602125	6602125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtgagccttataccgatCaatctaggcacacctgggga	12	8	11	10	1	2	2	1	1	1	1	2	4	2	3	3	3	2	1	3	3	4	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:6602125C>T	ENST00000229238.3	-	2	554	c.93G>A	c.(91-93)ttG>ttA	p.L31L	MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	31					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TTATACCGATCAATCTAGGCA	0.522													18	107					0	0	0	0	T	6602125	C	T	6602125	2	4	129	1	0	0	0	0	0	0	0	1	9885	825	29	2		2	MRPL51	12	6602125	Silent	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	166405	6602125	127249770	60	25017											
TAS2R19	259294	broad.mit.edu	37	chr12	11175081	11175081	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaacccagtcaatgacattTactagggctatgaagccatt	13	12	7	9	0	1	2	1	2	0	0	1	2	1	2	2	1	3	1	2	1	6	6			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:11175081T>A	ENST00000390673.2	-	1	138	c.90A>T	c.(88-90)gtA>gtT	p.V30V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	30					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAATGACATTTACTAGGGCTA	0.408													4	116					0	0	0	0	A	11175081	T	A	11175081	2	1	129	1	0	0	0	0	0	0	0	1	15661	1741	61	5		5	TAS2R19	12	11175081	Silent	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	4572956	11175081	122676814	61	25018											
LRIG3	121227	broad.mit.edu	37	chr12	59271321	59271321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccatccgtcatcgtctaaCgatggggctgtcatctgagg	7	10	12	12	3	4	1	2	1	2	0	6	2	5	1	2	3	1	1	2	3	1	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:59271321C>T	ENST00000320743.3	-	15	2683	c.2397G>A	c.(2395-2397)tcG>tcA	p.S799S	LRIG3_ENST00000379141.4_Silent_p.S739S	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	799						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATCGTCTAACGATGGGGCTG	0.562			T	ROS1	NSCLC								41	52					0	0	0	0	T	59271321	C	T	59271321	2	4	129	1	0	0	0	0	0	0	0	1	9010	523	19	1		1	LRIG3	12	59271321	Silent	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	48096240	59271321	74580574	62	25019											
EEA1	8411	broad.mit.edu	37	chr12	93175725	93175725	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taggtcagaaacatgcaataCcttttctttctgaatgtctt	11	16	6	8	0	4	2	1	1	3	1	4	2	4	2	1	1	3	1	1	1	5	6			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:93175725C>T	ENST00000322349.8	-	23	3601		c.e23+1			NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1						early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ACATGCAATACCTTTTCTTTC	0.388													60	100					0	0	0	0	T	93175725	C	T	93175725	5	4	129	1	0	0	0	0	0	0	1	0	4957	521	18	4	926	4	EEA1	12	93175725	Splice_Site	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	33904404	93175725	40676170	63	25020											
TBX3	6926	broad.mit.edu	37	chr12	115120692	115120692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctttagcctccaggtgcAccttggggtcgtcctccacc	4	12	10	15	1	1	0	0	0	1	0	5	0	4	0	6	3	2	2	6	3	1	4			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:115120692A>G	ENST00000349155.2	-	1	1277	c.314T>C	c.(313-315)gTg>gCg	p.V105A	TBX3_ENST00000257566.3_Missense_Mutation_p.V105A	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	105					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTCCAGGTGCACCTTGGGGTC	0.612													40	49					0	0	0	0	G	115120692	A	G	115120692	3	3	129	1	0	0	0	0	1	0	0	0	15753	159	6	5	1949	5	TBX3	12	115120692	Missense_Mutation	SNP	A	TCGA-CN-A6V6-01A-12D-A34J-08	21944967	115120692	18731203	64	25021											
PCDH9	5101	broad.mit.edu	37	chr13	66878987	66878987	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcccattcacaagctTgtccttcttcacccattctt	6	15	6	14	0	4	0	2	0	2	0	5	0	5	0	3	1	2	1	3	1	1	6			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr13:66878987T>C	ENST00000544246.1	-	5	4205	c.3514A>G	c.(3514-3516)Aag>Gag	p.K1172E	PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000377865.2_Missense_Mutation_p.K1172E|PCDH9_ENST00000328454.5_Missense_Mutation_p.K1138E|PCDH9_ENST00000456367.1_Missense_Mutation_p.K1138E	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1172					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTCACAAGCTTGTCCTTCTTC	0.498													24	97					0	0	0	0	C	66878987	T	C	66878987	3	2	129	1	0	0	0	0	1	0	0	0	11589	1821	63	5	203	5	PCDH9	13	66878987	Missense_Mutation	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08		66878987	48290891	65	25022											
PCCA	5095	broad.mit.edu	37	chr13	100992479	100992479	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcattgtttgtggcattcCagttaagagcacaacatttt	11	15	7	8	0	1	1	1	0	0	1	2	1	2	1	1	1	2	4	1	1	2	6			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr13:100992479C>T	ENST00000376285.1	+	18	1647	c.1609C>T	c.(1609-1611)Cag>Tag	p.Q537*	PCCA_ENST00000376279.3_Nonsense_Mutation_p.Q537*|PCCA_ENST00000376286.4_Nonsense_Mutation_p.Q511*	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	537					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGTGGCATTCCAGTTAAGAGC	0.353													15	63					0	0	0	0	T	100992479	C	T	100992479	4	4	129	1	0	0	0	0	0	1	0	0	11575	595	21	4	1679	4	PCCA	13	100992479	Nonsense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	34113492	100992479	14177399	66	25023											
OR11H12	440153	broad.mit.edu	37	chr14	19378016	19378016	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatcagtaccttgctatCtgccgtcccttgctctatcc	5	16	6	14	1	3	1	1	1	2	0	5	1	5	1	4	0	4	3	4	0	3	6			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr14:19378016C>A	ENST00000550708.1	+	1	495	c.423C>A	c.(421-423)atC>atA	p.I141I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACCTTGCTATCTGCCGTCCCT	0.453													10	285					1.02788e-11	1.08835e-11	1	0	A	19378016	C	A	19378016	2	1	129	1	0	0	0	0	0	0	0	1	10998	903	32	2		2	OR11H12	14	19378016	Silent	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08		19378016	87971524	67	25024											
OR4L1	122742	broad.mit.edu	37	chr14	20528635	20528635	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaagctgctaaaggggttTgcgatactttcatggataat	12	12	10	7	1	1	0	1	0	0	0	1	2	1	1	0	3	4	3	0	3	5	5			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr14:20528635T>C	ENST00000315683.1	+	1	432	c.432T>C	c.(430-432)ttT>ttC	p.F144F		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TAAAGGGGTTTGCGATACTTT	0.393													60	113					0	0	0	0	C	20528635	T	C	20528635	2	2	129	1	0	0	0	0	0	0	0	1	11145	1809	63	5		5	OR4L1	14	20528635	Silent	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	1150619	20528635	86820905	68	25025											
SOS2	6655	broad.mit.edu	37	chr14	50612018	50612018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctacttagtactgccaccCgttcttcaaaattttctgct	8	17	4	12	1	4	0	1	0	3	0	4	0	4	0	2	0	4	3	2	0	5	8			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr14:50612018C>T	ENST00000216373.5	-	16	2811	c.2537G>A	c.(2536-2538)cGg>cAg	p.R846Q	SOS2_ENST00000543680.1_Missense_Mutation_p.R813Q	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	846	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TACTGCCACCCGTTCTTCAAA	0.328													4	104					0	0	0	0	T	50612018	C	T	50612018	3	4	129	1	0	0	0	0	1	0	0	0	15025	652	23	1	1493	1	SOS2	14	50612018	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	30083383	50612018	56737522	69	25026											
MKRN3	7681	broad.mit.edu	37	chr15	23812077	23812077	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtggaggaggaggaagAgaagcagaaacttattcagc	14	6	16	5	0	1	2	1	0	0	2	1	7	1	6	0	5	3	1	0	5	4	2			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:23812077A>G	ENST00000314520.3	+	1	1624	c.1148A>G	c.(1147-1149)gAg>gGg	p.E383G	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Missense_Mutation_p.E143G	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	383						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GAGGAGGAAGAGAAGCAGAAA	0.512													25	67					0	0	0	0	G	23812077	A	G	23812077	3	3	129	1	0	0	0	0	1	0	0	0	9677	304	11	5	1150	5	MKRN3	15	23812077	Missense_Mutation	SNP	A	TCGA-CN-A6V6-01A-12D-A34J-08		23812077	78719315	70	25027											
CILP	8483	broad.mit.edu	37	chr15	65490123	65490123	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagaagactccactgctTgcagttcctccccagccagg	9	8	10	14	0	0	2	0	0	0	2	3	3	3	2	5	2	3	3	5	2	2	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:65490123T>C	ENST00000261883.4	-	9	2667	c.2501A>G	c.(2500-2502)cAa>cGa	p.Q834R		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	834					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTCCACTGCTTGCAGTTCCTC	0.562													34	89					0	0	0	0	C	65490123	T	C	65490123	3	2	129	1	0	0	0	0	1	0	0	0	3458	1812	63	5	1057	5	CILP	15	65490123	Missense_Mutation	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	41678046	65490123	37041269	71	25028											
KIF23	9493	broad.mit.edu	37	chr15	69732777	69732777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagagaccctctcgggagcGagatcgagaaaaagttactc	14	6	12	9	3	1	4	0	0	1	4	4	8	1	5	1	1	2	1	1	1	3	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:69732777G>A	ENST00000260363.4	+	17	2135	c.2018G>A	c.(2017-2019)cGa>cAa	p.R673Q	KIF23_ENST00000558585.1_Missense_Mutation_p.R490Q|KIF23_ENST00000559279.1_Missense_Mutation_p.R673Q|KIF23_ENST00000537891.1_Missense_Mutation_p.R490Q|KIF23_ENST00000352331.4_Missense_Mutation_p.R673Q|KIF23_ENST00000395392.2_Missense_Mutation_p.R673Q	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	673					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TCTCGGGAGCGAGATCGAGAA	0.388													10	62					0	0	0	0	A	69732777	G	A	69732777	3	1	129	1	0	0	0	0	1	0	0	0	8342	1058	37	1	2084	1	KIF23	15	69732777	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	4242654	69732777	32798615	72	25029											
AP3S2	10239	broad.mit.edu	37	chr15	90378853	90378853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacagcagacacagcccgcGcaggggctgctgaaaggcca	11	3	13	14	2	1	2	1	1	0	1	1	2	1	2	2	3	3	4	2	3	1	0	rs140200217		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:90378853G>A	ENST00000336418.4	-	6	868	c.476C>T	c.(475-477)gCg>gTg	p.A159V	AP3S2_ENST00000560771.1_5'UTR|AP3S2_ENST00000560940.1_Intron|AP3S2_ENST00000558011.1_Missense_Mutation_p.A171V|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.A360V	NM_005829.4	NP_005820.1			adaptor-related protein complex 3, sigma 2 subunit											NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CACAGCCCGCGCAGGGGCTGC	0.433													43	117					0	0	0	0	A	90378853	G	A	90378853	3	1	129	1	0	0	0	0	1	0	0	0	751	1087	38	1	109	1	AP3S2	15	90378853	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	20646076	90378853	12152539	73	25030											
FAM86A	196483	broad.mit.edu	37	chr16	5135725	5135725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacttcccatctgatccCggcccggcctggaaacagag	8	8	9	16	2	1	2	0	1	1	1	4	3	4	3	5	3	1	0	5	3	1	2			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr16:5135725C>T	ENST00000427587.4	-	8	969	c.901G>A	c.(901-903)Ggg>Agg	p.G301R	FAM86A_ENST00000458008.4_Missense_Mutation_p.G267R|FAM86A_ENST00000587133.1_Missense_Mutation_p.G240R|ALG1_ENST00000592661.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	301										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CATCTGATCCCGGCCCGGCCT	0.562													5	175					0	0	0	0	T	5135725	C	T	5135725	3	4	129	1	0	0	0	0	1	0	0	0	5689	652	23	1	95	1	FAM86A	16	5135725	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08		5135725	85219028	74	25031											
CHD9	80205	broad.mit.edu	37	chr16	53358431	53358431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaactctgtgtcaagttCtccttccacatcctctactg	10	13	5	13	0	4	1	1	0	3	1	7	1	6	1	3	0	2	1	3	0	4	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr16:53358431C>T	ENST00000566029.1	+	39	8479	c.8270C>T	c.(8269-8271)tCt>tTt	p.S2757F	CHD9_ENST00000398510.3_Missense_Mutation_p.S2773F|CHD9_ENST00000564845.1_Missense_Mutation_p.S2757F|CHD9_ENST00000447540.1_Missense_Mutation_p.S2758F			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2773					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GTGTCAAGTTCTCCTTCCACA	0.423													9	35					0	0	0	0	T	53358431	C	T	53358431	3	4	129	1	0	0	0	0	1	0	0	0	3361	913	32	2	8420	2	CHD9	16	53358431	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	48222706	53358431	36996322	75	25032											
WDR59	79726	broad.mit.edu	37	chr16	74908337	74908337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggctgcagtacacgcCgaactctggaaatgggcagg	10	6	15	10	2	1	0	0	0	1	0	1	2	1	1	1	4	3	5	1	4	3	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr16:74908337C>T	ENST00000262144.6	-	26	2825	c.2695G>A	c.(2695-2697)Ggc>Agc	p.G899S		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	899										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CAGTACACGCCGAACTCTGGA	0.562													10	31					0	0	0	0	T	74908337	C	T	74908337	3	4	129	1	0	0	0	0	1	0	0	0	17404	652	23	1	233	1	WDR59	16	74908337	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	21549906	74908337	15446416	76	25033											
ABCA9	10350	broad.mit.edu	37	chr17	66978739	66978739	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagcctgtgataaaggtcGcacatcctcaacaggcaact	14	7	9	11	1	1	1	1	1	0	0	3	2	2	1	2	2	3	2	2	2	5	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr17:66978739G>A	ENST00000340001.4	-	37	4895	c.4684C>T	c.(4684-4686)Cga>Tga	p.R1562*	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.R1524*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1562					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GATAAAGGTCGCACATCCTCA	0.453													5	216					0	0	0	0	A	66978739	G	A	66978739	4	1	129	1	0	0	0	0	0	1	0	0	39	1095	38	1	202	1	ABCA9	17	66978739	Nonsense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08		66978739	14216471	77	25034											
GPRC5C	55890	broad.mit.edu	37	chr17	72436927	72436927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagggtcagagcatgttcGtggagaacaaggccttttcc	11	9	13	8	1	1	3	1	0	0	3	3	4	2	3	2	3	2	2	2	3	3	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr17:72436927G>A	ENST00000392627.1	+	2	2273	c.1147G>A	c.(1147-1149)Gtg>Atg	p.V383M	GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.V350M|GPRC5C_ENST00000342648.5_Missense_Mutation_p.V23M	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	338						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GAGCATGTTCGTGGAGAACAA	0.577													4	57					0	0	0	0	A	72436927	G	A	72436927	3	1	129	1	0	0	0	0	1	0	0	0	6776	1145	40	1	1161	1	GPRC5C	17	72436927	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	5458188	72436927	8758283	78	25035											
SLC9A3R1	9368	broad.mit.edu	37	chr17	72759610	72759610	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggacagggaaactgaCgagttcttcaagaaatgcag	13	8	14	6	1	2	2	1	1	1	1	2	5	2	4	0	3	2	2	0	3	3	2			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr17:72759610C>T	ENST00000262613.5	+	3	903	c.708C>T	c.(706-708)gaC>gaT	p.D236D	SLC9A3R1_ENST00000413388.2_Silent_p.D80D	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	236					apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association			large_intestine(4)	4						GGGAAACTGACGAGTTCTTCA	0.622													5	13					0	0	0	0	T	72759610	C	T	72759610	2	4	129	1	0	0	0	0	0	0	0	1	14802	535	19	1		1	SLC9A3R1	17	72759610	Silent	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	322683	72759610	8435600	79	25036											
FOXJ1	2302	broad.mit.edu	37	chr17	74136183	74136183	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcagccccgggggcgcgctCcgcgacgtgcacgacgacgt	5	4	16	16	9	0	0	0	0	0	0	1	3	1	0	3	2	3	3	3	2	0	0			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr17:74136183C>G	ENST00000322957.6	-	2	648	c.294G>C	c.(292-294)cgG>cgC	p.R98R		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	98					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGGCGCGCTCCGCGACGTGC	0.736													9	18					0	0	0	0	G	74136183	C	G	74136183	2	3	129	1	0	0	0	0	0	0	0	1	6058	842	30	2		2	FOXJ1	17	74136183	Silent	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	1376573	74136183	7059027	80	25037											
MC4R	4160	broad.mit.edu	37	chr18	58038902	58038902	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagtgccggggaggacAgcaatcctcttaatgtgaag	11	7	13	10	1	1	1	0	1	1	0	2	3	2	3	3	3	2	2	3	3	3	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr18:58038902A>T	ENST00000299766.3	-	1	1099	c.681T>A	c.(679-681)gcT>gcA	p.A227A		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	227					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CGGGGAGGACAGCAATCCTCT	0.532													5	70					0	0	0	0	T	58038902	A	T	58038902	2	4	129	1	0	0	0	0	0	0	0	1	9435	175	7	5		5	MC4R	18	58038902	Silent	SNP	A	TCGA-CN-A6V6-01A-12D-A34J-08		58038902	20038346	81	25038											
APBA3	9546	broad.mit.edu	37	chr19	3759729	3759729	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgtgactagaggcacCgtctccagccagggttccgg	7	8	14	12	2	2	2	1	1	1	1	4	2	3	2	4	4	1	2	4	4	1	2			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:3759729C>T	ENST00000316757.3	-	2	734	c.534G>A	c.(532-534)acG>acA	p.T178T		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	178					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAGAGGCACCGTCTCCAGCC	0.647													14	49					0	0	0	0	T	3759729	C	T	3759729	2	4	129	1	0	0	0	0	0	0	0	1	759	639	23	1		1	APBA3	19	3759729	Silent	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08		3759729	55369254	82	25039											
MAP2K2	5605	broad.mit.edu	37	chr19	4117439	4117439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctggccatgatgaggcccGagggtctgtgctggactttg	5	11	15	10	1	1	2	0	2	1	0	2	4	2	3	3	4	1	1	3	4	0	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:4117439G>A	ENST00000262948.5	-	2	534	c.281C>T	c.(280-282)tCg>tTg	p.S94L	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	94	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGAGGCCCGAGGGTCTGTG	0.632													12	28					0	0	0	0	A	4117439	G	A	4117439	3	1	129	1	0	0	0	0	1	0	0	0	9306	1059	37	1	961	1	MAP2K2	19	4117439	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	357710	4117439	55011544	83	25040											
CYP4F11	57834	broad.mit.edu	37	chr19	16034870	16034870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgagctccaagatggCggcaatatattcactgggct	10	9	12	10	1	1	2	1	1	0	1	2	2	2	2	1	4	1	4	1	4	4	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:16034870C>T	ENST00000326742.7	-	6	671	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	CYP4F11_ENST00000402119.3_Missense_Mutation_p.A224T|CYP4F11_ENST00000248041.7_Missense_Mutation_p.A224T			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	224					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TCCAAGATGGCGGCAATATAT	0.498													4	150					0	0	0	0	T	16034870	C	T	16034870	3	4	129	1	0	0	0	0	1	0	0	0	4218	768	27	1	932	1	CYP4F11	19	16034870	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	11917431	16034870	43094113	84	25041											
APLP1	333	broad.mit.edu	37	chr19	36362190	36362190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaaggctgccggttctTgcaccaggagcgcatggacc	7	7	14	13	2	1	1	0	1	1	0	1	3	1	3	4	4	3	4	4	4	1	2			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:36362190T>C	ENST00000221891.4	+	4	668	c.476T>C	c.(475-477)tTg>tCg	p.L159S	APLP1_ENST00000586861.1_Missense_Mutation_p.L153S|APLP1_ENST00000537454.2_Missense_Mutation_p.L120S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	159	Copper-binding (By similarity).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCGGTTCTTGCACCAGGAG	0.622													9	26					0	0	0	0	C	36362190	T	C	36362190	3	2	129	1	0	0	0	0	1	0	0	0	780	1821	63	5	490	5	APLP1	19	36362190	Missense_Mutation	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	20327320	36362190	22766793	85	25042											
CEACAM1	634	broad.mit.edu	37	chr19	43023198	43023199	+	Frame_Shift_Ins	INS	-	-	T																															ctccctcttgacagggtttaINStgctgagggtggtgttgccc																										TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:43023198_43023199insT	ENST00000161559.6	-	5	1281_1282	c.1147_1148insA	c.(1147-1149)aaafs	p.K383fs	CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000358394.3_Intron|CEACAM1_ENST00000599389.1_Intron|CEACAM1_ENST00000403444.3_Frame_Shift_Ins_p.K383fs|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403461.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Intron|CEACAM1_ENST00000351134.3_Intron	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	383	Ig-like C2-type 3.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GACAGGGTTTATGCTGAGGGTG	0.51													42	133	---	---	---	---					T	43023199	-	T	43023198	7	5	129	1	0	1	1	0	0	0	0	0	3216	449	16	0	549	0	CEACAM1	19	43023198	Frame_Shift_Ins	INS	-	TCGA-CN-A6V6-01A-12D-A34J-08	6661008	43023198	16105785	86	25043											
ZNF226	7769	broad.mit.edu	37	chr19	44680435	44680435	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatacaaatgtaagcaatgTgggaaaggtttcagtcgtag	14	10	11	6	1	1	0	1	0	0	0	2	1	1	1	1	2	2	4	1	2	6	4			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:44680435T>C	ENST00000590089.1	+	7	1387	c.1020T>C	c.(1018-1020)tgT>tgC	p.C340C	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.C340C|ZNF226_ENST00000337433.5_Silent_p.C340C			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				GTAAGCAATGTGGGAAAGGTT	0.453													18	99					0	0	0	0	C	44680435	T	C	44680435	2	2	129	1	0	0	0	0	0	0	0	1	17875	1702	59	5		5	ZNF226	19	44680435	Silent	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	1657237	44680435	14448548	87	25044											
ZNF229	7772	broad.mit.edu	37	chr19	44933309	44933309	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccggccaaagctcttcccGcactcgcatttgtagggttt	6	12	9	14	3	1	0	0	0	1	0	4	0	3	0	3	2	1	5	3	2	2	4			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:44933309G>A	ENST00000291187.4	-	6	1951	c.1629C>T	c.(1627-1629)tgC>tgT	p.C543C	ZNF229_ENST00000588931.1_Silent_p.C549C|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGCTCTTCCCGCACTCGCATT	0.522													74	96					0	0	0	0	A	44933309	G	A	44933309	2	1	129	1	0	0	0	0	0	0	0	1	17877	1079	38	1		1	ZNF229	19	44933309	Silent	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	252874	44933309	14195674	88	25045											
HAS1	3036	broad.mit.edu	37	chr19	52222476	52222476	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcacgtagtccaccgAatctccgagcgccttgaagg	9	7	10	15	4	1	1	0	1	1	0	3	3	2	1	5	1	2	2	5	1	3	2			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:52222476A>G	ENST00000540069.2	-	2	742	c.682T>C	c.(682-684)Tcg>Ccg	p.S228P	HAS1_ENST00000222115.1_Missense_Mutation_p.S229P|HAS1_ENST00000601714.1_Missense_Mutation_p.S236P|HAS1_ENST00000594621.1_Missense_Mutation_p.S83P			Q92839	HAS1_HUMAN	hyaluronan synthase 1	229					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TAGTCCACCGAATCTCCGAGC	0.607													9	65					0	0	0	0	G	52222476	A	G	52222476	3	3	129	1	0	0	0	0	1	0	0	0	7011	246	9	5	1067	5	HAS1	19	52222476	Missense_Mutation	SNP	A	TCGA-CN-A6V6-01A-12D-A34J-08	7289167	52222476	6906507	89	25046											
ZNF677	342926	broad.mit.edu	37	chr19	53740939	53740939	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaccacattcattacatttGtaaggtttctctccagtatg	10	17	5	9	0	2	0	1	0	1	0	4	0	3	0	2	1	2	3	2	1	4	7	rs143592638		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:53740939G>T	ENST00000333952.4	-	5	1206	c.1041C>A	c.(1039-1041)taC>taA	p.Y347*	ZNF677_ENST00000598513.1_Nonsense_Mutation_p.Y347*			Q86XU0	ZN677_HUMAN	zinc finger protein 677	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CATTACATTTGTAAGGTTTCT	0.378													23	83					7.41877e-09	7.72533e-09	1	0	T	53740939	G	T	53740939	4	4	129	1	0	0	0	0	0	1	0	0	18179	1372	48	4	717	4	ZNF677	19	53740939	Nonsense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	1518463	53740939	5388044	90	25047											
ZNF135	7694	broad.mit.edu	37	chr19	58579749	58579749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatccacacaggagagaagCcatatgcatgcagggactgt	13	6	13	9	0	0	1	0	0	0	1	1	5	1	4	2	3	3	2	2	3	2	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:58579749C>A	ENST00000506786.1	+	5	2325	c.1771C>A	c.(1771-1773)Cca>Aca	p.P591T	ZNF135_ENST00000313434.5_Missense_Mutation_p.P633T|ZNF135_ENST00000511556.1_Missense_Mutation_p.P645T|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.P633T|ZNF135_ENST00000401053.4_Missense_Mutation_p.P657T			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	645					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGGAGAGAAGCCATATGCATG	0.547													10	103					4.68919e-08	4.80356e-08	1	0	A	58579749	C	A	58579749	3	1	129	1	0	0	0	0	1	0	0	0	17820	739	26	4	2100	4	ZNF135	19	58579749	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	4838810	58579749	549234	91	25048											
CRYBA4	1413	broad.mit.edu	37	chr22	27019317	27019317	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagtgctgagtggagcGtgagtctagggggacactga	10	9	17	5	1	1	4	0	4	1	0	1	6	1	6	0	3	2	1	0	3	2	2			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr22:27019317G>A	ENST00000354760.3	+	3	193		c.e3+1		CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4						camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TGAGTGGAGCGTGAGTCTAGG	0.597													14	52					0	0	0	0	A	27019317	G	A	27019317	5	1	129	1	0	0	0	0	0	0	1	0	3939	1159	40	1	165	1	CRYBA4	22	27019317	Splice_Site	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08		27019317	24285249	92	25049											
MYH9	4627	broad.mit.edu	37	chr22	36688149	36688151	+	In_Frame_Del	DEL	GTC	GTC	-																															gtcttggtcttctccagcttGtcgtaggcggccaccttctc																								rs34292387	byFrequency	TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr22:36688149_36688151delGTC	ENST00000216181.5	-	31	4455_4457	c.4225_4227delGAC	c.(4225-4227)del	p.D1409del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1409					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTCCAGCTTGTCGTAGGCGGCC	0.64			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				10	107	---	---	---	---					-	36688151	GTC	-	36688149	7	5	129	1	0	1	0	1	0	0	0	0	10112	1368	48	0	1699	0	MYH9	22	36688149	In_Frame_Del	DEL	GTC	TCGA-CN-A6V6-01A-12D-A34J-08	9668832	36688149	14616417	93	25050											
EP300	2033	broad.mit.edu	37	chr22	41568590	41568590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atttctggcccaatgttctgGaagaaagcattaaggaactg	13	11	10	7	0	2	1	0	0	2	1	2	3	2	3	1	3	2	2	1	3	5	3			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr22:41568590G>A	ENST00000263253.7	+	28	5759	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1514					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAATGTTCTGGAAGAAAGCAT	0.398			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				35	71					0	0	0	0	A	41568590	G	A	41568590	3	1	129	1	0	0	0	0	1	0	0	0	5186	1175	41	2	4650	2	EP300	22	41568590	Missense_Mutation	SNP	G	TCGA-CN-A6V6-01A-12D-A34J-08	4880441	41568590	9735976	94	25051											
CXorf23	256643	broad.mit.edu	37	chrX	19984742	19984742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttgcttgtagtgttcagCatttctaggtactggtgata	7	18	10	6	0	3	1	1	1	2	0	3	1	3	1	0	2	3	5	0	2	4	8			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chrX:19984742C>T	ENST00000379687.3	-	2	100	c.67G>A	c.(67-69)Gct>Act	p.A23T	CXorf23_ENST00000379682.4_Missense_Mutation_p.A23T|CXorf23_ENST00000356980.3_Missense_Mutation_p.A23T	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	23						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TAGTGTTCAGCATTTCTAGGT	0.403													45	34					0	0	0	0	T	19984742	C	T	19984742	3	4	129	1	0	0	0	0	1	0	0	0	4135	710	25	4	2021	4	CXorf23	23	19984742	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08		19984742	135285818	95	25052											
CYBB	1536	broad.mit.edu	37	chrX	37641386	37641386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctttgtctggtattacCgggtttatgatattccacct	6	18	7	10	1	2	1	0	1	2	0	4	1	4	1	4	2	1	2	4	2	4	7			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chrX:37641386C>T	ENST00000378588.4	+	2	158	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Intron|CYBB_ENST00000536160.1_5'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	31					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CTGGTATTACCGGGTTTATGA	0.403													43	40					0	0	0	0	T	37641386	C	T	37641386	3	4	129	1	0	0	0	0	1	0	0	0	4165	643	23	1	97	1	CYBB	23	37641386	Missense_Mutation	SNP	C	TCGA-CN-A6V6-01A-12D-A34J-08	17656644	37641386	117629174	96	25053											
ZC4H2	55906	broad.mit.edu	37	chrX	64141701	64141701	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggcagccacgtaccacaTtgatgtcagcgtggatcagt	10	8	11	12	2	2	1	2	1	0	0	2	2	2	2	3	2	3	2	3	2	1	2			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chrX:64141701T>C	ENST00000545618.1	-	3	769	c.206A>G	c.(205-207)aAt>aGt	p.N69S	ZC4H2_ENST00000337990.2_Missense_Mutation_p.N51S|ZC4H2_ENST00000447788.2_Missense_Mutation_p.N74S|ZC4H2_ENST00000374839.3_Missense_Mutation_p.N74S|ZC4H2_ENST00000488608.1_5'UTR			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	74							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACGTACCACATTGATGTCAGC	0.517													5	27					0	0	0	0	C	64141701	T	C	64141701	3	2	129	1	0	0	0	0	1	0	0	0	17673	1493	52	5	488	5	ZC4H2	23	64141701	Missense_Mutation	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	26500315	64141701	91128859	97	25054											
AR	367	broad.mit.edu	37	chrX	66943631	66943631	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatcatctctgtgcaagTgcccaagatcctttctggga	10	11	10	10	0	3	2	1	0	2	2	5	4	4	3	2	1	2	1	2	1	2	1			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chrX:66943631T>C	ENST00000374690.3	+	8	3235	c.2711T>C	c.(2710-2712)gTg>gCg	p.V904A	AR_ENST00000396043.2_Missense_Mutation_p.V372A|AR_ENST00000396044.3_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	903	Interaction with MYST2.|Ligand-binding.		P -> H (in AIS).|P -> S (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TCTGTGCAAGTGCCCAAGATC	0.502									Androgen Insensitivity Syndrome				8	132					0	0	0	0	C	66943631	T	C	66943631	3	2	129	1	0	0	0	0	1	0	0	0	838	1696	59	5	2765	5	AR	23	66943631	Missense_Mutation	SNP	T	TCGA-CN-A6V6-01A-12D-A34J-08	2801930	66943631	88326929	98	25055											
BAI2	576	broad.mit.edu	37	chr1	32205964	32205964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacctgcacatcatcagccGagggcacgtaggtggccctc	8	7	12	14	2	2	0	2	0	0	0	3	1	2	0	3	3	3	4	3	3	2	2			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:32205964G>A	ENST00000373658.3	-	12	2314	c.1973C>T	c.(1972-1974)tCg>tTg	p.S658L	BAI2_ENST00000373655.2_Missense_Mutation_p.S658L|BAI2_ENST00000398556.3_Missense_Mutation_p.S606L|BAI2_ENST00000440175.2_Missense_Mutation_p.S300L|BAI2_ENST00000527361.1_Missense_Mutation_p.S658L|BAI2_ENST00000398538.1_Missense_Mutation_p.S646L|BAI2_ENST00000257070.4_Missense_Mutation_p.S658L|BAI2_ENST00000398542.1_Missense_Mutation_p.S591L|BAI2_ENST00000398547.1_Missense_Mutation_p.S591L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	658					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ATCATCAGCCGAGGGCACGTA	0.597													27	21					0	0	0	0	A	32205964	G	A	32205964	3	1	130	1	0	0	0	0	1	0	0	0	1303	1059	37	1	2872	1	BAI2	1	32205964	Missense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08		32205964	217044657	1	25056											
POMGNT1	55624	broad.mit.edu	37	chr1	46656424	46656424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctggacacctggaacCgtgttgaacttgtgcttctt	7	13	11	10	1	1	2	0	2	1	0	1	4	1	4	2	2	4	3	2	2	2	4			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:46656424C>T	ENST00000371992.1	-	18	2222	c.1572G>A	c.(1570-1572)acG>acA	p.T524T	POMGNT1_ENST00000535522.1_Silent_p.T502T|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_Silent_p.T524T|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371986.3_Silent_p.T524T	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	524					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CACCTGGAACCGTGTTGAACT	0.552													8	70					0	0	0	0	T	46656424	C	T	46656424	2	4	130	1	0	0	0	0	0	0	0	1	12315	639	23	1		1	POMGNT1	1	46656424	Silent	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	14450460	46656424	202594197	2	25057											
TCHH	7062	broad.mit.edu	37	chr1	152082606	152082606	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctcagcagctgctcttcTtcctgctgcagctcgtcttt	3	16	7	15	1	5	0	1	0	4	0	8	0	6	0	1	0	6	6	1	0	0	3			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:152082606T>C	ENST00000368804.1	-	2	3086	c.3087A>G	c.(3085-3087)gaA>gaG	p.E1029E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1029	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTCTTCTTCCTGCTGCA	0.582													5	161					0	0	0	0	C	152082606	T	C	152082606	2	2	130	1	0	0	0	0	0	0	0	1	15794	1606	56	5		5	TCHH	1	152082606	Silent	SNP	T	TCGA-CN-A6V7-01A-12D-A34J-08	105426182	152082606	97168015	3	25058											
RAB25	57111	broad.mit.edu	37	chr1	156035757	156035757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctactctcccgattcacGcgcaatgagttcagccacga	11	9	7	14	4	4	1	2	1	2	0	5	3	4	1	2	0	2	2	2	0	3	3			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:156035757G>A	ENST00000361084.5	+	2	340	c.99G>A	c.(97-99)acG>acA	p.T33T	RAB25_ENST00000487325.1_Intron	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	33					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					CCCGATTCACGCGCAATGAGT	0.582													33	41					0	0	0	0	A	156035757	G	A	156035757	2	1	130	1	0	0	0	0	0	0	0	1	12994	1074	38	1		1	RAB25	1	156035757	Silent	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	3953151	156035757	93214864	4	25059											
FCRL5	83416	broad.mit.edu	37	chr1	157504594	157504594	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatttgtggggaacctctCtggacttcacagtgaagtgt	9	12	13	7	0	2	1	1	1	1	0	3	4	2	4	1	4	1	0	1	4	2	2			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:157504594C>G	ENST00000361835.3	-	8	1648	c.1491G>C	c.(1489-1491)caG>caC	p.Q497H	FCRL5_ENST00000368189.3_Missense_Mutation_p.Q497H|FCRL5_ENST00000356953.4_Missense_Mutation_p.Q497H|FCRL5_ENST00000368191.3_Missense_Mutation_p.Q412H|FCRL5_ENST00000368190.3_Missense_Mutation_p.Q497H	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	497	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGGAACCTCTCTGGACTTCAC	0.527													23	24					0	0	0	0	G	157504594	C	G	157504594	3	3	130	1	0	0	0	0	1	0	0	0	5843	912	32	2	1482	2	FCRL5	1	157504594	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	1468837	157504594	91746027	5	25060											
ATP1A2	477	broad.mit.edu	37	chr1	160099958	160099958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaagggggccccagagCgcattctggaccggtgctcc	7	7	15	12	2	1	3	0	2	1	1	2	4	2	4	4	4	2	2	4	4	1	1			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:160099958C>T	ENST00000361216.3	+	12	1617	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R510C|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	510					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCCCCAGAGCGCATTCTGGA	0.587													9	115					0	0	0	0	T	160099958	C	T	160099958	3	4	130	1	0	0	0	0	1	0	0	0	1133	768	27	1	1574	1	ATP1A2	1	160099958	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	2595364	160099958	89150663	6	25061											
OPN3	23596	broad.mit.edu	37	chr1	241761296	241761296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaagatcttccacacaacGaagctgcagaaaggagaaag	17	5	10	9	1	1	4	0	1	1	3	2	6	2	4	1	1	3	2	1	1	5	1			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:241761296G>A	ENST00000366554.2	-	3	803	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Missense_Mutation_p.R154C	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	233					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCCACACAACGAAGCTGCAGA	0.353													17	20					0	0	0	0	A	241761296	G	A	241761296	3	1	130	1	0	0	0	0	1	0	0	0	10952	1058	37	1	519	1	OPN3	1	241761296	Missense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	81661338	241761296	7489325	7	25062											
NOL10	79954	broad.mit.edu	37	chr2	10803140	10803140	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taacaggccaactctgtttcGagttcttgggtcccagcact	8	12	9	12	1	2	0	0	0	2	0	4	1	3	0	2	2	3	3	2	2	2	4			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:10803140G>A	ENST00000345985.3	-	9	732	c.622C>T	c.(622-624)Cga>Tga	p.R208*	NOL10_ENST00000381685.5_Nonsense_Mutation_p.R208*|NOL10_ENST00000542668.1_Nonsense_Mutation_p.R158*|NOL10_ENST00000538384.1_Nonsense_Mutation_p.R182*	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	208						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		ACTCTGTTTCGAGTTCTTGGG	0.408													16	20					0	0	0	0	A	10803140	G	A	10803140	4	1	130	1	0	0	0	0	0	1	0	0	10590	1066	37	1	1496	1	NOL10	2	10803140	Nonsense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08		10803140	232396233	8	25063											
C2orf16	84226	broad.mit.edu	37	chr2	27803325	27803325	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatgaagagaatcaccaagCgacttagaaaacacagaaag	21	4	8	8	1	1	4	1	1	0	3	1	6	1	4	1	0	2	0	1	0	8	1			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:27803325C>T	ENST00000408964.2	+	1	3937	c.3886C>T	c.(3886-3888)Cga>Tga	p.R1296*		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1296										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATCACCAAGCGACTTAGAAA	0.408													40	63					0	0	0	0	T	27803325	C	T	27803325	4	4	130	1	0	0	0	0	0	1	0	0	2177	760	27	1	3888	1	C2orf16	2	27803325	Nonsense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	17000185	27803325	215396048	9	25064											
MYO3B	140469	broad.mit.edu	37	chr2	171240291	171240291	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgcatcagcagatgctgcTtaccagtgcatggttactct	8	14	9	10	0	2	1	1	0	1	1	2	1	2	1	1	1	7	6	1	1	2	3			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:171240291T>A	ENST00000334231.6	+	12	1284	c.1284T>A	c.(1282-1284)gcT>gcA	p.A428A	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Silent_p.A419A|MYO3B_ENST00000409044.3_Silent_p.A419A			Q8WXR4	MYO3B_HUMAN	myosin IIIB	419	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CAGATGCTGCTTACCAGTGCA	0.453													4	103					0	0	0	0	A	171240291	T	A	171240291	2	1	130	1	0	0	0	0	0	0	0	1	10147	1596	56	5		5	MYO3B	2	171240291	Silent	SNP	T	TCGA-CN-A6V7-01A-12D-A34J-08	143436966	171240291	71959082	10	25065											
CIR1	9541	broad.mit.edu	37	chr2	175213374	175213374	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgtgcccgtttccttgtctCcctttgcttgtaactaccag	4	16	7	14	1	1	0	0	0	1	0	3	0	2	0	4	0	4	3	4	0	2	6			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:175213374C>G	ENST00000342016.3	-	10	1296	c.1204G>C	c.(1204-1206)Gag>Cag	p.E402Q	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	402	Arg/Ser-rich (RS domain).				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						TTCCTTGTCTCCCTTTGCTTG	0.517													66	80					0	0	0	0	G	175213374	C	G	175213374	3	3	130	1	0	0	0	0	1	0	0	0	3461	864	30	2	152	2	CIR1	2	175213374	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	3973083	175213374	67985999	11	25066											
TTN	7273	broad.mit.edu	37	chr2	179468696	179468696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctctgaactggtatttaaCgccttcaagcaaacgaggaa	13	9	10	9	2	2	1	1	1	1	0	2	3	2	2	1	3	4	3	1	3	6	4			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:179468696C>T	ENST00000589042.1	-	282	54942	c.54718G>A	c.(54718-54720)Gtt>Att	p.V18240I	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V16599I|TTN_ENST00000359218.5_Missense_Mutation_p.V9300I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15672I|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9367I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9175I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16599	Fibronectin type-III 32.						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)			TGGTATTTAACGCCTTCAAGC	0.458													82	110					0	0	0	0	T	179468696	C	T	179468696	3	4	130	1	0	0	0	0	1	0	0	0	16831	536	19	1	53299	1	TTN	2	179468696	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	4255322	179468696	63730677	12	25067											
ECEL1	9427	broad.mit.edu	37	chr2	233346260	233346260	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatagagacggacgatgcActcagcctttcgcaggaagc	11	7	12	11	3	2	1	2	0	0	1	3	5	2	3	1	2	3	2	1	2	2	2			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:233346260A>G	ENST00000304546.1	-	14	2155	c.1945T>C	c.(1945-1947)Tgc>Cgc	p.C649R	ECEL1_ENST00000409941.1_Missense_Mutation_p.C647R	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	649					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGGACGATGCACTCAGCCTTT	0.652													9	15					0	0	0	0	G	233346260	A	G	233346260	3	3	130	1	0	0	0	0	1	0	0	0	4927	159	6	5	402	5	ECEL1	2	233346260	Missense_Mutation	SNP	A	TCGA-CN-A6V7-01A-12D-A34J-08	53877564	233346260	9853113	13	25068											
PRICKLE2	166336	broad.mit.edu	37	chr3	64084813	64084813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaagatttggggaggcCgtaggagctgtatttgtgca	8	12	17	4	1	0	1	0	0	0	1	0	4	0	4	1	5	2	4	1	5	3	4			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:64084813C>T	ENST00000295902.6	-	8	3034	c.2449G>A	c.(2449-2451)Ggc>Agc	p.G817S	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G873S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	817						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TTGGGGAGGCCGTAGGAGCTG	0.502													45	9					0	0	0	0	T	64084813	C	T	64084813	3	4	130	1	0	0	0	0	1	0	0	0	12567	652	23	1	89	1	PRICKLE2	3	64084813	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08		64084813	133937617	14	25069											
GRAMD1C	54762	broad.mit.edu	37	chr3	113563371	113563371	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgaatgaaggggattcaAgccttgccaccgacttacag	12	9	11	9	1	1	3	1	3	0	0	1	5	1	4	3	2	3	0	3	2	4	3			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:113563371A>G	ENST00000358160.4	+	2	541	c.49A>G	c.(49-51)Agc>Ggc	p.S17G	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	17						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGGGGATTCAAGCCTTGCCAC	0.348													5	331					0	0	0	0	G	113563371	A	G	113563371	3	3	130	1	0	0	0	0	1	0	0	0	6799	72	3	5	55	5	GRAMD1C	3	113563371	Missense_Mutation	SNP	A	TCGA-CN-A6V7-01A-12D-A34J-08	49478558	113563371	84459059	15	25070											
MSL2	55167	broad.mit.edu	37	chr3	135870114	135870114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggtactagcgttacGcacagcaatgctagtcacgt	9	10	12	10	3	1	0	1	0	0	0	1	0	1	0	0	2	6	6	0	2	5	4			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:135870114G>A	ENST00000309993.2	-	2	2341	c.1609C>T	c.(1609-1611)Cgt>Tgt	p.R537C	MSL2_ENST00000434835.2_Missense_Mutation_p.R463C	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	537					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CTAGCGTTACGCACAGCAATG	0.498													5	272					0	0	0	0	A	135870114	G	A	135870114	3	1	130	1	0	0	0	0	1	0	0	0	9948	1087	38	1	128	1	MSL2	3	135870114	Missense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	22306743	135870114	62152316	16	25071											
ZIC1	7545	broad.mit.edu	37	chr3	147128361	147128361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggctgccggccacgcGtcgcctaacgtggtcaacgg	7	5	15	14	6	1	0	1	0	0	0	2	1	1	0	3	4	4	2	3	4	2	1			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:147128361G>A	ENST00000282928.4	+	1	1191	c.462G>A	c.(460-462)gcG>gcA	p.A154A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	154					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCGGCCACGCGTCGCCTAACG	0.716													8	48					0	0	0	0	A	147128361	G	A	147128361	2	1	130	1	0	0	0	0	0	0	0	1	17773	1132	40	1		1	ZIC1	3	147128361	Silent	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	11258247	147128361	50894069	17	25072											
MED12L	116931	broad.mit.edu	37	chr3	151094797	151094797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggctctggttctgtggccGaaatgaacaacttactggac	10	10	12	9	1	2	1	0	1	2	0	2	3	2	2	1	4	3	2	1	4	4	2			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:151094797G>A	ENST00000474524.1	+	28	4080	c.4042G>A	c.(4042-4044)Gaa>Aaa	p.E1348K	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.E1208K	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1348					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTGTGGCCGAAATGAACAA	0.373													4	176					0	0	0	0	A	151094797	G	A	151094797	3	1	130	1	0	0	0	0	1	0	0	0	9498	1059	37	1	4152	1	MED12L	3	151094797	Missense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	3966436	151094797	46927633	18	25073											
GP5	2814	broad.mit.edu	37	chr3	194118797	194118797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcgctgcaggacggtcatgCcgctgaagctctggctctgc	5	8	15	13	3	3	1	1	1	2	0	3	2	3	2	1	4	4	5	1	4	1	0			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:194118797C>T	ENST00000401815.1	-	1	286	c.215G>A	c.(214-216)gGc>gAc	p.G72D	GP5_ENST00000323007.3_Missense_Mutation_p.G72D			P40197	GPV_HUMAN	glycoprotein V (platelet)	72					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GACGGTCATGCCGCTGAAGCT	0.632													5	264					0	0	0	0	T	194118797	C	T	194118797	3	4	130	1	0	0	0	0	1	0	0	0	6632	739	26	4	1471	4	GP5	3	194118797	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	43024000	194118797	3903633	19	25074											
MUC4	4585	broad.mit.edu	37	chr3	195507316	195507316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtgctggtgacaggaagaGgggtggtgtgacctgaggat	10	8	19	4	0	0	4	0	3	0	1	0	6	0	6	1	6	1	1	1	6	2	0			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:195507316G>A	ENST00000463781.3	-	2	11594	c.11135C>T	c.(11134-11136)cCt>cTt	p.P3712L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3712L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	504					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACAGGAAGAGGGGTGGTGTG	0.572													7	13					0	0	0	0	A	195507316	G	A	195507316	3	1	130	1	0	0	0	0	1	0	0	0	10048	1000	35	4		4	MUC4	3	195507316	Missense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	1388519	195507316	2515114	20	25075											
FGFR3	2261	broad.mit.edu	37	chr4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atctgcccccacagagcgctCcccgcaccggcccatcctgc	6	5	8	22	3	1	1	0	0	1	1	3	1	3	1	7	1	3	2	7	1	0	0	rs121913483		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				15	17					0	0	0	0	G	1803568	C	G	1803568	3	3	130	1	0	0	0	0	1	0	0	0	5912	855	30	2	768	2	FGFR3	4	1803568	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08		1803568	189350708	21	25076											
FBXW7	55294	broad.mit.edu	37	chr4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcatattgaacacagcGgactgctgcaacatgaccca	13	7	8	13	1	1	2	1	2	0	0	1	3	1	3	2	1	5	2	2	1	3	2	rs149680468		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								57	6					0	0	0	0	C	153247289	G	C	153247289	3	2	130	1	0	0	0	0	1	0	0	0	5814	1116	39	3	622	3	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	151443721	153247289	37906987	22	25077											
YTHDC2	64848	broad.mit.edu	37	chr5	112884355	112884355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatgtccatagtaaagcatCaaatggctggtaattttaaa	16	12	7	6	0	1	0	1	0	0	0	2	0	2	0	1	2	1	4	1	2	8	5			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr5:112884355C>T	ENST00000161863.4	+	11	1826	c.1613C>T	c.(1612-1614)tCa>tTa	p.S538L	YTHDC2_ENST00000515883.1_Missense_Mutation_p.S538L	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	538							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGTAAAGCATCAAATGGCTGG	0.353													44	41					0	0	0	0	T	112884355	C	T	112884355	3	4	130	1	0	0	0	0	1	0	0	0	17593	838	29	2	1655	2	YTHDC2	5	112884355	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08		112884355	68030905	23	25078											
FAM71B	153745	broad.mit.edu	37	chr5	156592869	156592869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctctccccttggcaaacCggccccatctgacatgctgt	7	9	8	17	1	2	1	0	1	2	0	3	2	2	1	6	2	2	2	6	2	1	1			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr5:156592869C>T	ENST00000302938.4	-	1	406	c.311G>A	c.(310-312)cGg>cAg	p.R104Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	104						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTGGCAAACCGGCCCCATCT	0.542													13	54					0	0	0	0	T	156592869	C	T	156592869	3	4	130	1	0	0	0	0	1	0	0	0	5654	652	23	1	1514	1	FAM71B	5	156592869	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	43708514	156592869	24322391	24	25079											
ZFP2	80108	broad.mit.edu	37	chr5	178358599	178358599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaattaaaactcaaagaatGtttgtaggaaagaagatcta	19	12	7	3	0	2	3	1	0	1	3	2	4	2	4	0	1	1	2	0	1	9	5			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr5:178358599G>A	ENST00000361362.2	+	5	815	c.285G>A	c.(283-285)atG>atA	p.M95I	ZFP2_ENST00000503510.2_Missense_Mutation_p.M95I|ZFP2_ENST00000520301.1_Missense_Mutation_p.M95I|ZFP2_ENST00000523286.1_Missense_Mutation_p.M95I	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CTCAAAGAATGTTTGTAGGAA	0.388													39	40					0	0	0	0	A	178358599	G	A	178358599	3	1	130	1	0	0	0	0	1	0	0	0	17736	1377	48	4	287	4	ZFP2	5	178358599	Missense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	21765730	178358599	2556661	25	25080											
TAPBP	6892	broad.mit.edu	37	chr6	33281027	33281027	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgagaacaggctcctgctGaggctctggctgtggtcgca	7	9	15	10	1	1	2	0	2	1	1	3	4	2	2	1	4	2	5	1	4	1	0			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:33281027G>A	ENST00000434618.2	-	3	781	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000475304.1_Nonsense_Mutation_p.Q146*|TAPBP_ENST00000426633.2_Nonsense_Mutation_p.Q146*|TAPBP_ENST00000456592.2_Nonsense_Mutation_p.Q146*	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	146					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GGCTCCTGCTGAGGCTCTGGC	0.622													4	36					0	0	0	0	A	33281027	G	A	33281027	4	1	130	1	0	0	0	0	0	1	0	0	15643	1299	45	2	1114	2	TAPBP	6	33281027	Nonsense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08		33281027	137834040	26	25081											
TFAP2B	7021	broad.mit.edu	37	chr6	50786670	50786670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtggagaatgtcaagtaCgaagatatctatgaggtgag	13	11	13	4	1	2	4	1	2	1	2	2	6	2	4	0	2	1	1	0	2	6	4			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:50786670C>T	ENST00000263046.4	+	1	232	c.66C>T	c.(64-66)taC>taT	p.Y22Y	TFAP2B_ENST00000393655.3_Silent_p.Y22Y			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	22					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ATGTCAAGTACGAAGATATCT	0.453													25	27					0	0	0	0	T	50786670	C	T	50786670	2	4	130	1	0	0	0	0	0	0	0	1	15882	547	19	1		1	TFAP2B	6	50786670	Silent	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	17505643	50786670	120328397	27	25082											
PKHD1	5314	broad.mit.edu	37	chr6	51908510	51908510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcaatgagctggtacatCattcactcgcacaaccacct	11	9	8	13	1	2	1	2	1	0	0	3	1	2	1	2	2	3	4	2	2	3	2			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:51908510C>T	ENST00000371117.3	-	26	3009	c.2734G>A	c.(2734-2736)Gat>Aat	p.D912N	PKHD1_ENST00000340994.4_Missense_Mutation_p.D912N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	912					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCTGGTACATCATTCACTCGC	0.433													21	38					0	0	0	0	T	51908510	C	T	51908510	3	4	130	1	0	0	0	0	1	0	0	0	12043	826	29	2	9697	2	PKHD1	6	51908510	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	1121840	51908510	119206557	28	25083											
HECA	51696	broad.mit.edu	37	chr6	139487755	139487755	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggatgcaggacgagaaaaaGaagaagtctggctccgagaa	16	4	14	7	3	1	4	0	0	1	4	2	8	2	6	1	3	1	2	1	3	5	0			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:139487755G>C	ENST00000367658.2	+	2	891	c.606G>C	c.(604-606)aaG>aaC	p.K202N	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	202					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		ACGAGAAAAAGAAGAAGTCTG	0.582													24	17					0	0	0	0	C	139487755	G	C	139487755	3	2	130	1	0	0	0	0	1	0	0	0	7088	933	33	2	612	2	HECA	6	139487755	Missense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	87579245	139487755	31627312	29	25084			1	34		2	2	31	G		6.008203e-05
HECA	51696	broad.mit.edu	37	chr6	139487785	139487785	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctccgagaagaacacaggGaggcctcctggtgaggcggc	9	4	17	11	2	0	3	0	1	0	2	2	5	2	4	3	6	1	1	3	6	2	0			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:139487785G>T	ENST00000367658.2	+	2	921	c.636G>T	c.(634-636)ggG>ggT	p.G212G	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	212					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGAACACAGGGAGGCCTCCTG	0.597													18	8					6.49762e-13	6.8225e-13	1	0	T	139487785	G	T	139487785	2	4	130	1	0	0	0	0	0	0	0	1	7088	1161	41	2		2	HECA	6	139487785	Silent	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	30	139487785	31627282	30	25085			1	34		2	2	31	G		6.008203e-05
RGS17	26575	broad.mit.edu	37	chr6	153365075	153365077	+	In_Frame_Del	DEL	TGT	TGT	-																															gcaccaacaaaagcaacaggTgttgttgggcctctggtttc																										TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:153365075_153365077delTGT	ENST00000367225.2	-	1	101_103	c.77_79delACA	c.(76-81)acc>a	p.NT26del	RGS17_ENST00000206262.1_In_Frame_Del_p.NT26del			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	26					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AAGCAACAGGTGTTGTTGGGCCT	0.517													37	119	---	---	---	---					-	153365077	TGT	-	153365075	7	5	130	1	0	1	0	1	0	0	0	0	13382	1696	59	0	569	0	RGS17	6	153365075	In_Frame_Del	DEL	TGT	TCGA-CN-A6V7-01A-12D-A34J-08	13877290	153365075	17749992	31	25086											
PCLO	27445	broad.mit.edu	37	chr7	82474651	82474651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttgcccagggctgggaacgGaactggatcctgctgatgta	8	9	15	9	1	0	1	0	1	0	0	1	4	1	4	2	4	4	4	2	4	3	2			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr7:82474651G>A	ENST00000423517.2	-	13	14319	c.13982C>T	c.(13981-13983)tCc>tTc	p.S4661F	PCLO_ENST00000333891.8_Missense_Mutation_p.S4661F|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4549	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTGGGAACGGAACTGGATCC	0.517													12	22					0	0	0	0	A	82474651	G	A	82474651	3	1	130	1	0	0	0	0	1	0	0	0	11654	1174	41	2	1515	2	PCLO	7	82474651	Missense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08		82474651	76664012	32	25087											
TMEM130	222865	broad.mit.edu	37	chr7	98453743	98453743	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaccactttgagcttcacGgtgaaggtcccgatgatgga	9	9	12	11	2	1	3	1	3	0	0	2	5	2	4	3	3	1	1	3	3	1	2			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr7:98453743G>A	ENST00000450876.1	-	4	1678	c.363C>T	c.(361-363)acC>acT	p.T121T	TMEM130_ENST00000416379.2_Silent_p.T205T|TMEM130_ENST00000546258.1_Silent_p.T186T|TMEM130_ENST00000339375.4_Silent_p.T205T|TMEM130_ENST00000345589.4_Silent_p.T103T			Q8N3G9	TM130_HUMAN	transmembrane protein 130	205						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGAGCTTCACGGTGAAGGTCC	0.572													8	20					0	0	0	0	A	98453743	G	A	98453743	2	1	130	1	0	0	0	0	0	0	0	1	16137	1103	39	1		1	TMEM130	7	98453743	Silent	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	15979092	98453743	60684920	33	25088											
ANK1	286	broad.mit.edu	37	chr8	41555570	41555570	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcttctcacctgctcctgCtcttctgacctgatcaccac	6	12	6	17	0	4	2	2	2	3	0	6	3	5	2	4	0	3	3	4	0	0	2			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr8:41555570C>T	ENST00000396942.1	-	24	2711	c.2628G>A	c.(2626-2628)gaG>gaA	p.E876E	ANK1_ENST00000289734.7_Silent_p.E876E|ANK1_ENST00000265709.8_Silent_p.E917E|ANK1_ENST00000352337.4_Silent_p.E876E|ANK1_ENST00000379758.2_Silent_p.E876E|ANK1_ENST00000396945.1_Silent_p.E876E|ANK1_ENST00000347528.4_Silent_p.E876E			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	876					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTGCTCCTGCTCTTCTGACC	0.557													14	17					0	0	0	0	T	41555570	C	T	41555570	2	4	130	1	0	0	0	0	0	0	0	1	620	796	28	4		4	ANK1	8	41555570	Silent	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08		41555570	104808452	34	25089											
RP1	6101	broad.mit.edu	37	chr8	55542844	55542844	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgagggtgaaaatcttttCatttgggaagaggaagacat	13	13	12	3	0	2	4	1	2	1	2	2	6	2	6	0	3	0	0	0	3	4	4			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr8:55542844C>A	ENST00000220676.1	+	4	6550	c.6402C>A	c.(6400-6402)ttC>ttA	p.F2134L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2134					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAATCTTTTCATTTGGGAAG	0.318													4	89					0.00909568	0.00909568	1	0	A	55542844	C	A	55542844	3	1	130	1	0	0	0	0	1	0	0	0	13617	825	29	2	6412	2	RP1	8	55542844	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	13987274	55542844	90821178	35	25090											
SARDH	1757	broad.mit.edu	37	chr9	136536697	136536697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgatggcgcggtaccctgcGttgatgaggccgtgcttggc	4	10	16	11	5	0	2	0	2	0	0	1	3	0	2	2	4	3	3	2	4	1	3			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr9:136536697G>A	ENST00000371872.4	-	18	2543	c.2286C>T	c.(2284-2286)aaC>aaT	p.N762N	SARDH_ENST00000371868.1_Silent_p.N190N|SARDH_ENST00000439388.1_Silent_p.N762N|SARDH_ENST00000422262.2_Silent_p.N594N	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	762					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGTACCCTGCGTTGATGAGGC	0.672													8	5					0	0	0	0	A	136536697	G	A	136536697	2	1	130	1	0	0	0	0	0	0	0	1	13927	1136	40	1		1	SARDH	9	136536697	Silent	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08		136536697	4676734	36	25091											
ANKRD26	22852	broad.mit.edu	37	chr10	27324646	27324646	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaacatgctatttttatgCgataggtctttttcttcttc	7	20	6	8	1	3	0	0	0	3	0	4	1	3	0	0	1	4	2	0	1	4	9			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr10:27324646C>T	ENST00000376087.4	-	24	2898	c.2733G>A	c.(2731-2733)tcG>tcA	p.S911S	ANKRD26_ENST00000436985.2_Silent_p.S927S|ANKRD26_ENST00000376070.3_Silent_p.S468S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	910						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TATTTTTATGCGATAGGTCTT	0.328													19	32					0	0	0	0	T	27324646	C	T	27324646	2	4	130	1	0	0	0	0	0	0	0	1	654	755	27	1		1	ANKRD26	10	27324646	Silent	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08		27324646	108210101	37	25092											
MPP7	143098	broad.mit.edu	37	chr10	28413037	28413037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaagttcatcaccaacatGaataagacctgagaaatagg	17	8	7	9	0	2	3	2	2	0	2	2	4	2	3	3	1	1	1	3	1	6	4			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr10:28413037G>A	ENST00000337532.5	-	9	814	c.538C>T	c.(538-540)Cat>Tat	p.H180Y	MPP7_ENST00000540098.1_Missense_Mutation_p.H180Y|MPP7_ENST00000445954.2_Missense_Mutation_p.H55Y|MPP7_ENST00000375732.1_Missense_Mutation_p.H180Y|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Missense_Mutation_p.H180Y	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	180	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCACCAACATGAATAAGACCT	0.363													81	107					0	0	0	0	A	28413037	G	A	28413037	3	1	130	1	0	0	0	0	1	0	0	0	9809	1290	45	2	1232	2	MPP7	10	28413037	Missense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	1088391	28413037	107121710	38	25093											
WAC	51322	broad.mit.edu	37	chr10	28905158	28905158	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctaatagtagtaatgcatCaaatgcaacagttgtaccac	15	12	6	8	0	2	0	1	0	1	0	2	0	2	0	1	0	4	6	1	0	7	7			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr10:28905158C>G	ENST00000375664.3	+	12	2087	c.1478C>G	c.(1477-1479)tCa>tGa	p.S493*	WAC_ENST00000347934.4_Nonsense_Mutation_p.S435*|WAC_ENST00000354911.4_Nonsense_Mutation_p.S538*|WAC_ENST00000375646.1_Nonsense_Mutation_p.S386*			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	538					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AGTAATGCATCAAATGCAACA	0.393													45	70					0	0	0	0	G	28905158	C	G	28905158	4	3	130	1	0	0	0	0	0	1	0	0	17343	838	29	2	1659	2	WAC	10	28905158	Nonsense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	492121	28905158	106629589	39	25094											
PAOX	196743	broad.mit.edu	37	chr10	135203152	135203152	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcgctggcacagcgccccGtacactagggggtcctacag	7	7	12	15	3	1	0	0	0	1	0	3	0	2	0	3	3	3	3	3	3	3	3			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr10:135203152G>A	ENST00000278060.5	+	6	1376	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Intron|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000480071.2_Intron	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	569					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACAGCGCCCCGTACACTAGGG	0.682													27	19					0	0	0	0	A	135203152	G	A	135203152	2	1	130	1	0	0	0	0	0	0	0	1	11494	1132	40	1		1	PAOX	10	135203152	Silent	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	106297994	135203152	331595	40	25095											
ZNF143	7702	broad.mit.edu	37	chr11	9549107	9549107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatctctggaagaagccAtcagaatagcgtctagaatc	14	8	9	10	1	3	3	1	0	2	3	5	4	3	4	2	1	3	0	2	1	6	2			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:9549107A>G	ENST00000396602.2	+	16	1983	c.1864A>G	c.(1864-1866)Atc>Gtc	p.I622V	ZNF143_ENST00000530463.1_Missense_Mutation_p.I621V|ZNF143_ENST00000299606.2_Missense_Mutation_p.I594V|ZNF143_ENST00000396604.1_Missense_Mutation_p.I621V|ZNF143_ENST00000396597.3_Missense_Mutation_p.I591V	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	622					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GGAAGAAGCCATCAGAATAGC	0.423													53	76					0	0	0	0	G	9549107	A	G	9549107	3	3	130	1	0	0	0	0	1	0	0	0	17827	217	8	5	1922	5	ZNF143	11	9549107	Missense_Mutation	SNP	A	TCGA-CN-A6V7-01A-12D-A34J-08		9549107	125457409	41	25096											
OR4C3	256144	broad.mit.edu	37	chr11	48347444	48347444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttataccctgagaaatgaaGaggtaaaaaatgccatgaga	18	9	9	5	0	0	4	0	3	0	3	0	6	0	4	2	1	2	1	2	1	7	4			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:48347444G>A	ENST00000319856.4	+	1	973	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAGAAATGAAGAGGTAAAAAA	0.323													8	74					0	0	0	0	A	48347444	G	A	48347444	3	1	130	1	0	0	0	0	1	0	0	0	11121	943	33	2	954	2	OR4C3	11	48347444	Missense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	38798337	48347444	86659072	42	25097											
OR10AG1	282770	broad.mit.edu	37	chr11	55735317	55735317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagataattttgccataaGagacaacaatcaacagaaat	19	9	7	6	0	1	3	1	0	0	3	1	5	1	3	1	1	3	0	1	1	6	4			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:55735317G>T	ENST00000312345.2	-	1	673	c.623C>A	c.(622-624)tCt>tAt	p.S208Y		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTTGCCATAAGAGACAACAAT	0.393													25	42					1.2476e-16	1.32656e-16	1	0	T	55735317	G	T	55735317	3	4	130	1	0	0	0	0	1	0	0	0	10968	942	33	2	285	2	OR10AG1	11	55735317	Missense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	7387873	55735317	79271199	43	25098											
BBS1	582	broad.mit.edu	37	chr11	66281968	66281968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccgaaagcccgctacctgCtctgccagctgctgctgcca	7	7	10	17	2	1	0	0	0	1	0	1	2	1	0	5	0	8	5	5	0	2	1			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:66281968C>T	ENST00000419755.3	+	4	440	c.362C>T	c.(361-363)gCt>gTt	p.A121V	BBS1_ENST00000455748.2_Missense_Mutation_p.A84V|BBS1_ENST00000318312.7_Missense_Mutation_p.A84V|BBS1_ENST00000393994.2_Missense_Mutation_p.A84V|BBS1_ENST00000537537.1_5'UTR|BBS1_ENST00000529766.1_3'UTR																							CCGCTACCTGCTCTGCCAGCT	0.607													95	143					0	0	0	0	T	66281968	C	T	66281968	3	4	130	1	0	0	0	0	1	0	0	0	1339	797	28	4	265	4	BBS1	11	66281968	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	10546651	66281968	68724548	44	25099											
GRIA4	2893	broad.mit.edu	37	chr11	105769024	105769024	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatatttctcttgagaggttTatacatggtggagccaatgt	10	15	11	5	0	1	1	0	1	1	1	2	4	1	2	1	3	2	1	1	3	4	6			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:105769024T>C	ENST00000393127.2	+	7	1202	c.756T>C	c.(754-756)ttT>ttC	p.F252F	GRIA4_ENST00000428631.2_Silent_p.F252F|GRIA4_ENST00000525187.1_Silent_p.F252F|GRIA4_ENST00000282499.5_Silent_p.F252F|GRIA4_ENST00000393125.2_Silent_p.F252F|GRIA4_ENST00000530497.1_Silent_p.F252F	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	252					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TTGAGAGGTTTATACATGGTG	0.328													3	57					0	0	0	0	C	105769024	T	C	105769024	2	2	130	1	0	0	0	0	0	0	0	1	6820	1751	61	5		5	GRIA4	11	105769024	Silent	SNP	T	TCGA-CN-A6V7-01A-12D-A34J-08	39487056	105769024	29237492	45	25100											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035143	110035143	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccacagcggtcagtggctGatgaactccgtgccatgtct	8	9	12	12	2	2	2	1	2	1	0	3	2	3	2	3	2	4	1	3	2	1	0			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:110035143G>C	ENST00000453089.2	+	5	2121	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D446H|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D445H			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	445							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GTCAGTGGCTGATGAACTCCG	0.463													14	6					0	0	0	0	C	110035143	G	C	110035143	3	2	130	1	0	0	0	0	1	0	0	0	17658	1290	45	2	1355	2	ZC3H12C	11	110035143	Missense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	4266119	110035143	24971373	46	25101											
ANKS1B	56899	broad.mit.edu	37	chr12	99640250	99640250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcaatgaccttattctccCcagagtacaggctctctcca	10	10	7	14	0	2	2	0	1	2	1	5	2	3	2	4	2	1	3	4	2	3	3			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr12:99640250C>T	ENST00000547776.2	-	13	2148	c.2149G>A	c.(2149-2151)Ggg>Agg	p.G717R	ANKS1B_ENST00000547010.1_Missense_Mutation_p.G297R|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G717R|ANKS1B_ENST00000550833.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	717						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTTATTCTCCCCAGAGTACAG	0.463													25	33					0	0	0	0	T	99640250	C	T	99640250	3	4	130	1	0	0	0	0	1	0	0	0	688	623	22	4	1941	4	ANKS1B	12	99640250	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08		99640250	34211645	47	25102											
UBC	7316	broad.mit.edu	37	chr12	125397963	125397963	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctttccggcaaagatcaAcctctgctggtcaggaggaa	10	9	11	11	1	3	1	2	0	1	1	4	3	4	3	2	4	3	3	2	4	3	1			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr12:125397963A>G	ENST00000536769.1	-	1	1931	c.355T>C	c.(355-357)Ttg>Ctg	p.L119L	UBC_ENST00000538617.1_Silent_p.L119L|UBC_ENST00000339647.5_Silent_p.L119L|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	119	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.G111fs*15(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GCAAAGATCAACCTCTGCTGG	0.552													5	264					0	0	0	0	G	125397963	A	G	125397963	2	3	130	1	0	0	0	0	0	0	0	1	16938	40	2	5		5	UBC	12	125397963	Silent	SNP	A	TCGA-CN-A6V7-01A-12D-A34J-08	25757713	125397963	8453932	48	25103											
THAP10	56906	broad.mit.edu	37	chr15	71174804	71174804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgagtttttaacatgtttCttctttcacctgtacagcca	8	18	6	9	0	3	1	1	1	2	0	3	1	3	1	2	0	3	4	2	0	2	8			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr15:71174804C>T	ENST00000249861.4	-	3	1275	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	255							DNA binding|metal ion binding			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TAACATGTTTCTTCTTTCACC	0.333													87	106					0	0	0	0	T	71174804	C	T	71174804	3	4	130	1	0	0	0	0	1	0	0	0	15936	922	32	2	14	2	THAP10	15	71174804	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08		71174804	31356588	49	25104											
NEO1	4756	broad.mit.edu	37	chr15	73575381	73575381	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcataattgtttctgttggCgtcatcaccatcgtggtggt	6	16	11	8	2	4	0	3	0	1	0	5	0	4	0	1	3	0	2	1	3	1	4			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr15:73575381C>T	ENST00000339362.5	+	24	3786	c.3339C>T	c.(3337-3339)ggC>ggT	p.G1113G	NEO1_ENST00000261908.6_Silent_p.G1113G|NEO1_ENST00000560262.1_Silent_p.G1113G|NEO1_ENST00000558964.1_Silent_p.G1102G			Q92859	NEO1_HUMAN	neogenin 1	1113					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.G1113G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTTCTGTTGGCGTCATCACCA	0.498													116	199					0	0	0	0	T	73575381	C	T	73575381	2	4	130	1	0	0	0	0	0	0	0	1	10406	755	27	1		1	NEO1	15	73575381	Silent	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	2400577	73575381	28956011	50	25105											
HAPLN3	145864	broad.mit.edu	37	chr15	89422472	89422472	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttgaactggtagcgcccGttgggggactggtaaggaaa	11	8	16	6	2	0	1	0	1	0	0	0	3	0	3	1	5	2	4	1	5	5	4			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr15:89422472G>A	ENST00000359595.3	-	4	736	c.522C>T	c.(520-522)aaC>aaT	p.N174N	HAPLN3_ENST00000562889.1_Silent_p.N236N	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	174	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.N174N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GGTAGCGCCCGTTGGGGGACT	0.657											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	39					0	0	0	0	A	89422472	G	A	89422472	2	1	130	1	0	0	0	0	0	0	0	1	7006	1136	40	1		1	HAPLN3	15	89422472	Silent	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	15847091	89422472	13108920	51	25106											
PKD1	5310	broad.mit.edu	37	chr16	2150560	2150560	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgatgcccacgtgggcCgtggtacctgggaggcaaga	9	6	16	10	2	0	2	0	1	0	1	0	3	0	3	3	4	3	3	3	4	2	1	rs144910188		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr16:2150560C>T	ENST00000262304.4	-	27	9613	c.9405G>A	c.(9403-9405)acG>acA	p.T3135T	PKD1_ENST00000423118.1_Silent_p.T3135T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3135	PLAT.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACGTGGGCCGTGGTACCTG	0.657													14	19					0	0	0	0	T	2150560	C	T	2150560	2	4	130	1	0	0	0	0	0	0	0	1	12035	639	23	1		1	PKD1	16	2150560	Silent	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08		2150560	88204193	52	25107											
GALR2	8811	broad.mit.edu	37	chr17	74072784	74072784	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaaacgcgctggcagccAtcgggctcatctgggggctg	6	7	15	13	4	2	0	1	0	1	0	4	1	2	0	1	4	2	4	1	4	1	0			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr17:74072784A>G	ENST00000329003.3	+	2	526	c.436A>G	c.(436-438)Atc>Gtc	p.I146V		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	146					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCTGGCAGCCATCGGGCTCAT	0.682													18	22					0	0	0	0	G	74072784	A	G	74072784	3	3	130	1	0	0	0	0	1	0	0	0	6277	217	8	5	442	5	GALR2	17	74072784	Missense_Mutation	SNP	A	TCGA-CN-A6V7-01A-12D-A34J-08		74072784	7122426	53	25108											
RNF213	57674	broad.mit.edu	37	chr17	78355400	78355400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccaaaaggctttctgcaGcagcacatcctgaaggacct	12	8	9	12	0	1	1	0	1	1	0	3	3	3	2	3	2	3	4	3	2	3	1			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr17:78355400G>C	ENST00000582970.1	+	57	13994	c.13851G>C	c.(13849-13851)caG>caC	p.Q4617H	RNF213_ENST00000508628.2_Missense_Mutation_p.Q4666H|RNF213_ENST00000336301.6_Missense_Mutation_p.Q2690H|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.Q4666Q(1)|p.Q2690Q(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCTTTCTGCAGCAGCACATCC	0.572													26	38					0	0	0	0	C	78355400	G	C	78355400	3	2	130	1	0	0	0	0	1	0	0	0	13562	962	34	4	14392	4	RNF213	17	78355400	Missense_Mutation	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	4282616	78355400	2839810	54	25109											
PYCR1	5831	broad.mit.edu	37	chr17	79892829	79892829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgctgccactgagcccCgtgacggcatcaatcaggtc	7	6	13	15	3	2	2	2	2	0	0	3	2	2	2	4	3	2	2	4	3	1	0			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr17:79892829C>T	ENST00000337943.5	-	4	955	c.513G>A	c.(511-513)acG>acA	p.T171T	PYCR1_ENST00000329875.8_Silent_p.T171T|PYCR1_ENST00000577756.1_Silent_p.T171T|PYCR1_ENST00000402252.2_Silent_p.T198T|PYCR1_ENST00000403172.4_Silent_p.T171T	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	171					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CACTGAGCCCCGTGACGGCAT	0.697													17	29					0	0	0	0	T	79892829	C	T	79892829	2	4	130	1	0	0	0	0	0	0	0	1	12937	639	23	1		1	PYCR1	17	79892829	Silent	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	1537429	79892829	1302381	55	25110											
ZNF627	199692	broad.mit.edu	37	chr19	11728051	11728051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagaatacatgaaaggactCacactggagataaaccctat	17	9	7	8	0	1	3	1	1	0	2	1	5	1	4	1	2	2	0	1	2	7	4			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr19:11728051C>T	ENST00000361113.5	+	4	941	c.733C>T	c.(733-735)Cac>Tac	p.H245Y	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TGAAAGGACTCACACTGGAGA	0.413													16	75					0	0	0	0	T	11728051	C	T	11728051	3	4	130	1	0	0	0	0	1	0	0	0	18146	826	29	2	747	2	ZNF627	19	11728051	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08		11728051	47400932	56	25111											
IRGQ	126298	broad.mit.edu	37	chr19	44096355	44096355	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccccagcagtgccctcGcccgcccaggcgcccagtct	4	4	11	22	4	1	0	0	0	1	0	2	0	1	0	6	1	2	1	6	1	0	0			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr19:44096355G>A	ENST00000422989.1	-	3	1850	c.1695C>T	c.(1693-1695)ggC>ggT	p.G565G	IRGQ_ENST00000602269.1_Silent_p.G565G|IRGQ_ENST00000601520.1_Intron|L34079.2_ENST00000594374.1_Intron	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	565	Ala-rich.						protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CAGTGCCCTCGCCCGCCCAGG	0.731													3	9					0	0	0	0	A	44096355	G	A	44096355	2	1	130	1	0	0	0	0	0	0	0	1	7892	1074	38	1		1	IRGQ	19	44096355	Silent	SNP	G	TCGA-CN-A6V7-01A-12D-A34J-08	32368304	44096355	15032628	57	25112											
NLRP9	338321	broad.mit.edu	37	chr19	56244284	56244284	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagtaggagaaatacgActtcttttcagattcactga	16	11	8	6	1	3	4	2	1	1	3	3	6	3	4	0	1	1	1	0	1	5	6			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr19:56244284A>G	ENST00000332836.2	-	2	940	c.913T>C	c.(913-915)Tcg>Ccg	p.S305P		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	305	NACHT.					cytoplasm	ATP binding	p.S305T(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GAGAAATACGACTTCTTTTCA	0.388													62	78					0	0	0	0	G	56244284	A	G	56244284	3	3	130	1	0	0	0	0	1	0	0	0	10554	275	10	5	2094	5	NLRP9	19	56244284	Missense_Mutation	SNP	A	TCGA-CN-A6V7-01A-12D-A34J-08	12147929	56244284	2884699	58	25113											
MAFB	9935	broad.mit.edu	37	chr20	39316685	39316685	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatgagctgcgtcttcTcattctccaggtggtgcttc	5	14	11	11	1	3	2	1	2	3	0	6	2	3	2	1	2	3	3	1	2	1	3			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr20:39316685T>C	ENST00000373313.2	-	1	1195	c.806A>G	c.(805-807)gAg>gGg	p.E269G	MAFB_ENST00000396967.1_Missense_Mutation_p.E269G	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	269	Leucine-zipper.				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CTGCGTCTTCTCATTCTCCAG	0.602			T	IGH@	MM								37	34					0	0	0	0	C	39316685	T	C	39316685	3	2	130	1	0	0	0	0	1	0	0	0	9223	1551	54	5	169	5	MAFB	20	39316685	Missense_Mutation	SNP	T	TCGA-CN-A6V7-01A-12D-A34J-08		39316685	23708835	59	25114											
APP	351	broad.mit.edu	37	chr21	27354743	27354743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attctcatccccaggtgtctCgagatacttgtcaacggcat	9	12	8	12	2	3	1	2	0	2	1	6	2	4	1	2	2	2	1	2	2	2	3			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr21:27354743C>T	ENST00000358918.3	-	9	1337	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	APP_ENST00000448388.2_Missense_Mutation_p.E270K|APP_ENST00000346798.3_Missense_Mutation_p.E380K|APP_ENST00000439274.2_Missense_Mutation_p.E324K|APP_ENST00000359726.3_Missense_Mutation_p.E324K|APP_ENST00000357903.3_Missense_Mutation_p.E361K|APP_ENST00000354192.3_Missense_Mutation_p.E249K|APP_ENST00000348990.5_Missense_Mutation_p.E305K|APP_ENST00000440126.3_Missense_Mutation_p.E356K	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	380					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CCAGGTGTCTCGAGATACTTG	0.473													28	45					0	0	0	0	T	27354743	C	T	27354743	3	4	130	1	0	0	0	0	1	0	0	0	817	893	31	1	1214	1	APP	21	27354743	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08		27354743	20775152	60	25115											
CLDN17	26285	broad.mit.edu	37	chr21	31538328	31538328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttatctgtgtgtggcacaCggtagccaggcactggatat	8	11	13	9	1	1	0	0	0	1	0	1	1	1	1	1	4	1	4	1	4	3	3			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr21:31538328C>T	ENST00000286808.3	-	1	643	c.608G>A	c.(607-609)cGt>cAt	p.R203H		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	203					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GTGTGGCACACGGTAGCCAGG	0.488													28	36					0	0	0	0	T	31538328	C	T	31538328	3	4	130	1	0	0	0	0	1	0	0	0	3508	536	19	1	70	1	CLDN17	21	31538328	Missense_Mutation	SNP	C	TCGA-CN-A6V7-01A-12D-A34J-08	4183585	31538328	16591567	61	25116											
HLCS	3141	broad.mit.edu	37	chr21	38308959	38308959	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggactgtcttgtgcagTgcacccttgcttgtcacctg	4	15	10	12	0	3	0	1	0	2	0	3	1	3	1	2	1	3	3	2	1	0	4			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr21:38308959T>C	ENST00000399120.1	-	5	2016	c.786A>G	c.(784-786)gcA>gcG	p.A262A	HLCS_ENST00000336648.3_Silent_p.A262A	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	262					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCTTGTGCAGTGCACCCTTGC	0.547													29	41					0	0	0	0	C	38308959	T	C	38308959	2	2	130	1	0	0	0	0	0	0	0	1	7263	1683	59	5		5	HLCS	21	38308959	Silent	SNP	T	TCGA-CN-A6V7-01A-12D-A34J-08	6770631	38308959	9820936	62	25117											
TMEM39B	55116	broad.mit.edu	37	chr1	32542834	32542834	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcgcttcaccgttctcAcggcaacaggctggagtctg	7	10	10	14	3	4	0	3	0	2	0	6	1	4	1	1	3	1	4	1	3	1	2			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:32542834A>G	ENST00000427288.1	+	6	640	c.160A>G	c.(160-162)Acg>Gcg	p.T54A	TMEM39B_ENST00000336294.5_Missense_Mutation_p.T169A|TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000456834.2_Intron|TMEM39B_ENST00000487305.1_3'UTR			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	169						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CACCGTTCTCACGGCAACAGG	0.597													4	99					0	0	0	0	G	32542834	A	G	32542834	3	3	131	1	0	0	0	0	1	0	0	0	16256	159	6	5	523	5	TMEM39B	1	32542834	Missense_Mutation	SNP	A	TCGA-CQ-5323-01A-01D-1683-08		32542834	216707787	1	25118											
MARCKSL1	65108	broad.mit.edu	37	chr1	32800482	32800482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctcttgaaggacaggcCgctcaatttgaaaggcttct	10	13	9	9	1	3	2	1	2	2	0	4	3	3	3	1	3	0	2	1	3	3	4			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:32800482C>T	ENST00000329421.7	-	2	649	c.304G>A	c.(304-306)Ggc>Agc	p.G102S		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	102						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AAGGACAGGCCGCTCAATTTG	0.577													3	54					0	0	0	0	T	32800482	C	T	32800482	3	4	131	1	0	0	0	0	1	0	0	0	9379	652	23	1	287	1	MARCKSL1	1	32800482	Missense_Mutation	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	257648	32800482	216450139	2	25119											
GRIK3	2899	broad.mit.edu	37	chr1	37337839	37337839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagtcgaagataatgcGgaattcccggcctcgcttca	9	9	11	12	4	1	1	1	0	0	1	4	3	2	2	2	2	2	3	2	2	3	3	rs141595955		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:37337839G>A	ENST00000373091.3	-	4	698	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	GRIK3_ENST00000373093.4_Missense_Mutation_p.R228C	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	228					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AAGATAATGCGGAATTCCCGG	0.597													14	23					0	0	0	0	A	37337839	G	A	37337839	3	1	131	1	0	0	0	0	1	0	0	0	6825	1116	39	1	2129	1	GRIK3	1	37337839	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	4537357	37337839	211912782	3	25120											
RD3	343035	broad.mit.edu	37	chr1	211652474	211652474	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggagatggtcctgatgtcGctggcgaagggcgagatgcg	7	8	18	8	5	0	3	0	1	0	2	3	6	1	3	1	4	1	1	1	4	1	0			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:211652474G>A	ENST00000367002.4	-	3	1655	c.492C>T	c.(490-492)agC>agT	p.S164S	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	164					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TCCTGATGTCGCTGGCGAAGG	0.701													9	13					0	0	0	0	A	211652474	G	A	211652474	2	1	131	1	0	0	0	0	0	0	0	1	13269	1078	38	1		1	RD3	1	211652474	Silent	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	174314635	211652474	37598147	4	25121											
DISC1	27185	broad.mit.edu	37	chr1	232162197	232162197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggaatcttacatcctttCtgcagaacttggagaaaagt	13	11	8	9	0	2	2	0	0	2	2	3	4	3	3	2	2	3	1	2	2	5	3			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:232162197C>T	ENST00000439617.2	+	12	2377	c.2324C>T	c.(2323-2325)tCt>tTt	p.S775F	DISC1_ENST00000366637.3_Missense_Mutation_p.S85F	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	775	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TACATCCTTTCTGCAGAACTT	0.443													4	6					0	0	0	0	T	232162197	C	T	232162197	3	4	131	1	0	0	0	0	1	0	0	0	4575	913	32	2	3211	2	DISC1	1	232162197	Missense_Mutation	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	20509723	232162197	17088424	5	25122											
GCKR	2646	broad.mit.edu	37	chr2	27728586	27728586	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgtcttcacctcttcagcCcgagggtctcagcggctcct	4	11	11	15	2	5	0	3	0	3	0	7	1	6	0	3	3	2	1	3	3	0	2			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:27728586C>T	ENST00000264717.2	+	10	815	c.750_splice	c.e10-1	p.P251_splice	GCKR_ENST00000424318.2_Splice_Site_p.P61_splice	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	251	SIS 1.			P -> V (in Ref. 2; CAB61828).	carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CCTCTTCAGCCCGAGGGTCTC	0.552													8	54					0	0	0	0	T	27728586	C	T	27728586	5	4	131	1	0	0	0	0	0	0	1	0	6343	637	22	4	790	4	GCKR	2	27728586	Splice_Site	SNP	C	TCGA-CQ-5323-01A-01D-1683-08		27728586	215470787	6	25123											
DPP10	57628	broad.mit.edu	37	chr2	116534856	116534856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgataaagatcttggcatacGatgaaactactcaaaaaatg	18	10	7	6	1	2	3	1	2	1	1	2	4	2	3	0	1	3	1	0	1	8	4			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:116534856G>A	ENST00000410059.1	+	14	1774	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N	DPP10_ENST00000310323.8_Missense_Mutation_p.D425N|DPP10_ENST00000393147.2_Missense_Mutation_p.D436N|DPP10_ENST00000409163.1_Missense_Mutation_p.D382N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	432					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTTGGCATACGATGAAACTAC	0.358													9	36					0	0	0	0	A	116534856	G	A	116534856	3	1	131	1	0	0	0	0	1	0	0	0	4763	1058	37	1	1519	1	DPP10	2	116534856	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	88806270	116534856	126664517	7	25124											
GPR17	2840	broad.mit.edu	37	chr2	128409269	128409270	+	Frame_Shift_Ins	INS	-	-	C																															gcaaaaggctcaagggcccgINSccccccagcttcgaagggaa																										TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:128409269_128409270insC	ENST00000544369.1	+	4	1655_1656	c.1044_1045insC	c.(1042-1047)ccccccfs	p.PP348fs	LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000272644.3_Frame_Shift_Ins_p.PP348fs|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000393018.3_Frame_Shift_Ins_p.PP348fs	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	348						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCAAGGGCCCGCCCCCCAGCTT	0.619													34	65	---	---	---	---					C	128409270	-	C	128409269	7	5	131	1	0	1	1	0	0	0	0	0	6716	1074	38	0	1050	0	GPR17	2	128409269	Frame_Shift_Ins	INS	-	TCGA-CQ-5323-01A-01D-1683-08	11874413	128409269	114790104	8	25125											
PDE11A	50940	broad.mit.edu	37	chr2	178682613	178682613	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcgttgatctgcatcatcaAaaggtttcccatcaagtctg	10	13	8	10	1	5	1	3	1	2	0	7	1	6	1	1	1	1	3	1	1	3	2			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:178682613A>G	ENST00000286063.5	-	8	1933	c.1616T>C	c.(1615-1617)tTt>tCt	p.F539S	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.F181S|PDE11A_ENST00000409504.1_Missense_Mutation_p.F181S|PDE11A_ENST00000389683.3_Missense_Mutation_p.F95S|PDE11A_ENST00000358450.4_Missense_Mutation_p.F289S	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	539	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TGCATCATCAAAAGGTTTCCC	0.378									Primary Pigmented Nodular Adrenocortical Disease, Familial				5	34					0	0	0	0	G	178682613	A	G	178682613	3	3	131	1	0	0	0	0	1	0	0	0	11702	14	1	5	1237	5	PDE11A	2	178682613	Missense_Mutation	SNP	A	TCGA-CQ-5323-01A-01D-1683-08	50273344	178682613	64516760	9	25126											
BOLL	66037	broad.mit.edu	37	chr2	198636708	198636708	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctggcattatactagaaccTaaagcaaagattaaataata	19	10	6	6	0	0	2	0	0	0	2	0	2	0	2	1	1	3	3	1	1	11	7			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:198636708T>G	ENST00000321801.7	-	6	959		c.e6-2		BOLL_ENST00000282278.8_Splice_Site|BOLL_ENST00000430004.1_Splice_Site|BOLL_ENST00000433157.1_Splice_Site|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000392296.4_Splice_Site	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein						cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TACTAGAACCTAAAGCAAAGA	0.279													16	87					0	0	0	0	G	198636708	T	G	198636708	5	3	131	1	0	0	0	0	0	0	1	0	1494	1536	53	5	524	5	BOLL	2	198636708	Splice_Site	SNP	T	TCGA-CQ-5323-01A-01D-1683-08	19954095	198636708	44562665	10	25127											
MYRIP	25924	broad.mit.edu	37	chr3	40085595	40085595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtgcagcatcctctcgaaGcaccagcagtttgtggagca	11	8	11	11	1	1	0	0	0	1	0	3	2	2	1	2	1	5	6	2	1	2	1			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:40085595G>A	ENST00000396217.3	+	3	280	c.35G>A	c.(34-36)aGc>aAc	p.S12N	MYRIP_ENST00000444716.1_Silent_p.K55K|MYRIP_ENST00000425621.1_Silent_p.K55K|MYRIP_ENST00000302541.6_Silent_p.K55K			Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	97	RabBD.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TCCTCTCGAAGCACCAGCAGT	0.542													4	32					0	0	0	0	A	40085595	G	A	40085595	3	1	131	1	0	0	0	0	1	0	0	0	10170	962	34	4	171	4	MYRIP	3	40085595	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08		40085595	157936835	11	25128											
NKTR	4820	broad.mit.edu	37	chr3	42659092	42659092	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttcagctcttctcagAcatatgtccaaaaacatgca	13	13	5	10	0	3	1	2	0	2	1	5	1	4	1	1	0	3	3	1	0	4	4			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:42659092A>G	ENST00000232978.8	+	3	277	c.89A>G	c.(88-90)gAc>gGc	p.D30G	RP4-613B23.1_ENST00000445452.1_RNA|NKTR_ENST00000442970.1_Missense_Mutation_p.D30G|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	30	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTCTTCTCAGACATATGTCCA	0.328													10	42					0	0	0	0	G	42659092	A	G	42659092	3	3	131	1	0	0	0	0	1	0	0	0	10518	275	10	5	95	5	NKTR	3	42659092	Missense_Mutation	SNP	A	TCGA-CQ-5323-01A-01D-1683-08	2573497	42659092	155363338	12	25129											
NBEAL2	23218	broad.mit.edu	37	chr3	47044464	47044464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggacactcccatcccccGctggaaactgtccagcgccg	8	5	10	18	3	0	0	0	0	0	0	3	2	3	2	5	2	2	1	5	2	1	0			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:47044464G>A	ENST00000450053.3	+	34	5656	c.5477G>A	c.(5476-5478)cGc>cAc	p.R1826H	NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1642H|NBEAL2_ENST00000383740.2_Missense_Mutation_p.R105H	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1826							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCATCCCCCGCTGGAAACTG	0.612													16	19					0	0	0	0	A	47044464	G	A	47044464	3	1	131	1	0	0	0	0	1	0	0	0	10259	1087	38	1	5611	1	NBEAL2	3	47044464	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	4385372	47044464	150977966	13	25130											
PDZRN3	23024	broad.mit.edu	37	chr3	73432746	73432746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcatgaactcgcgccGccgccgctgctccttggcct	4	9	10	18	5	1	1	1	1	0	0	3	1	2	1	5	1	3	3	5	1	1	1			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:73432746G>A	ENST00000263666.4	-	10	3085	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	PDZRN3_ENST00000479530.1_Missense_Mutation_p.R708W|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R648W|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R648W|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R713W	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	991							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AACTCGCGCCGCCGCCGCTGC	0.582													14	72					0	0	0	0	A	73432746	G	A	73432746	3	1	131	1	0	0	0	0	1	0	0	0	11780	1086	38	1	233	1	PDZRN3	3	73432746	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	26388282	73432746	124589684	14	25131											
OR5K4	403278	broad.mit.edu	37	chr3	98073476	98073476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgtcttctcatgtatattgGaccatctgaagaaggagata	12	14	9	6	0	3	3	1	1	3	2	4	5	3	4	1	2	0	1	1	2	5	6			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:98073476G>C	ENST00000354924.2	+	1	779	c.779G>C	c.(778-780)gGa>gCa	p.G260A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						ATGTATATTGGACCATCTGAA	0.348													4	178					0	0	0	0	C	98073476	G	C	98073476	3	2	131	1	0	0	0	0	1	0	0	0	11240	1174	41	2	781	2	OR5K4	3	98073476	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	24640730	98073476	99948954	15	25132											
SIDT1	54847	broad.mit.edu	37	chr3	113331029	113331029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagatatattatatgggtCgtttcaagataggtgagtca	12	13	10	6	1	2	3	2	1	0	2	3	3	2	3	1	2	0	1	1	2	6	6			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:113331029C>T	ENST00000264852.4	+	19	2680	c.1954C>T	c.(1954-1956)Cgt>Tgt	p.R652C	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.R652C	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	652						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TTATATGGGTCGTTTCAAGAT	0.413													5	65					0	0	0	0	T	113331029	C	T	113331029	3	4	131	1	0	0	0	0	1	0	0	0	14390	884	31	1	2028	1	SIDT1	3	113331029	Missense_Mutation	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	15257553	113331029	84691401	16	25133											
KIAA1407	57577	broad.mit.edu	37	chr3	113723577	113723577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acttctgccttcagtcccagGggaagcaacaggtgaactag	11	8	11	11	0	2	1	1	1	1	0	3	2	3	2	2	3	4	1	2	3	4	3			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:113723577G>C	ENST00000295878.3	-	11	2031	c.1885C>G	c.(1885-1887)Cct>Gct	p.P629A	KIAA1407_ENST00000545063.1_Missense_Mutation_p.P460A	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	629										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCAGTCCCAGGGGAAGCAACA	0.443													27	188					0	0	0	0	C	113723577	G	C	113723577	3	2	131	1	0	0	0	0	1	0	0	0	8280	1232	43	4	953	4	KIAA1407	3	113723577	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	392548	113723577	84298853	17	25134											
HEG1	57493	broad.mit.edu	37	chr3	124692701	124692701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcagcatacggggacatttgGaaatctccacttttgaagat	12	12	9	8	1	2	2	1	1	1	1	3	4	2	4	1	3	2	1	1	3	3	4			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:124692701G>C	ENST00000311127.4	-	16	3937	c.3870C>G	c.(3868-3870)ttC>ttG	p.F1290L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1290						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGGACATTTGGAAATCTCCAC	0.383													4	98					0	0	0	0	C	124692701	G	C	124692701	3	2	131	1	0	0	0	0	1	0	0	0	7094	1165	41	2	283	2	HEG1	3	124692701	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	10969124	124692701	73329729	18	25135											
RHO	6010	broad.mit.edu	37	chr3	129251571	129251571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgttctttgccaagagcGccgccatctacaaccctgtc	8	9	8	16	3	2	1	0	0	2	1	3	1	2	1	4	0	5	1	4	0	3	3			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:129251571G>A	ENST00000296271.3	+	4	986	c.892G>A	c.(892-894)Gcc>Acc	p.A298T		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	298					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TGCCAAGAGCGCCGCCATCTA	0.602													7	111					0	0	0	0	A	129251571	G	A	129251571	3	1	131	1	0	0	0	0	1	0	0	0	13413	1087	38	1	906	1	RHO	3	129251571	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	4558870	129251571	68770859	19	25136											
KCNMB2	10242	broad.mit.edu	37	chr3	178543544	178543544	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctgcgctcatacatgcaGaggtaataccactgggtggg	9	9	12	11	1	1	1	1	0	0	1	2	1	2	1	2	3	4	3	2	3	3	3			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:178543544G>A	ENST00000432997.1	+	3	577	c.225G>A	c.(223-225)caG>caA	p.Q75Q	KCNMB2_ENST00000420517.2_Silent_p.Q75Q|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000452583.1_Silent_p.Q75Q|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.Q75Q	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	75					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			CATACATGCAGAGGTAATACC	0.527													47	255					0	0	0	0	A	178543544	G	A	178543544	2	1	131	1	0	0	0	0	0	0	0	1	8128	933	33	2		2	KCNMB2	3	178543544	Silent	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	49291973	178543544	19478886	20	25137											
TFRC	7037	broad.mit.edu	37	chr3	195792459	195792459	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtcagagggacagtcTccttccatattcctagaatc	10	12	7	12	0	2	2	1	0	1	2	7	3	5	3	4	1	0	0	4	1	3	5			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:195792459T>C	ENST00000360110.4	-	10	1222	c.1053A>G	c.(1051-1053)ggA>ggG	p.G351G	TFRC_ENST00000420415.1_Silent_p.G270G|TFRC_ENST00000392396.3_Silent_p.G351G|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.G69G	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	351					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		AGGGACAGTCTCCTTCCATAT	0.438			T	BCL6	NHL								19	180					0	0	0	0	C	195792459	T	C	195792459	2	2	131	1	0	0	0	0	0	0	0	1	15906	1538	54	5		5	TFRC	3	195792459	Silent	SNP	T	TCGA-CQ-5323-01A-01D-1683-08	17248915	195792459	2229971	21	25138											
FSTL5	56884	broad.mit.edu	37	chr4	162307361	162307361	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagacatatggagtgccCgtcacatcactattgaaccc	12	8	10	11	1	2	2	2	1	0	1	2	5	2	4	2	2	2	0	2	2	3	3	rs35820116	byFrequency	TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr4:162307361C>T	ENST00000306100.5	-	16	2518	c.2082G>A	c.(2080-2082)acG>acA	p.T694T	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Silent_p.T684T|FSTL5_ENST00000536695.1_Silent_p.T693T|FSTL5_ENST00000379164.4_Silent_p.T693T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	694						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGGAGTGCCCGTCACATCAC	0.478													4	49					0	0	0	0	T	162307361	C	T	162307361	2	4	131	1	0	0	0	0	0	0	0	1	6128	639	23	1		1	FSTL5	4	162307361	Silent	SNP	C	TCGA-CQ-5323-01A-01D-1683-08		162307361	28846915	22	25139											
EGFLAM	133584	broad.mit.edu	37	chr5	38370498	38370498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccaactaccagtttgccGtgagggcaatgaattcccat	12	10	8	11	1	0	2	0	2	0	0	1	2	1	2	4	1	4	2	4	1	5	4			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:38370498G>A	ENST00000322350.5	+	6	992	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	EGFLAM_ENST00000354891.3_Missense_Mutation_p.V216M	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	216	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCAGTTTGCCGTGAGGGCAAT	0.567													6	31					0	0	0	0	A	38370498	G	A	38370498	3	1	131	1	0	0	0	0	1	0	0	0	5002	1145	40	1	668	1	EGFLAM	5	38370498	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08		38370498	142544762	23	25140											
ITGA1	3672	broad.mit.edu	37	chr5	52235492	52235492	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagaaaatgactacatcaActgaccatctcaaacgaggc	18	6	7	10	1	2	3	2	2	1	1	3	5	2	3	1	1	3	0	1	1	6	1			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:52235492A>G	ENST00000282588.6	+	25	3609	c.3151A>G	c.(3151-3153)Act>Gct	p.T1051A	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1051					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GACTACATCAACTGACCATCT	0.323													31	37					0	0	0	0	G	52235492	A	G	52235492	3	3	131	1	0	0	0	0	1	0	0	0	7925	43	2	5	3249	5	ITGA1	5	52235492	Missense_Mutation	SNP	A	TCGA-CQ-5323-01A-01D-1683-08	13864994	52235492	128679768	24	25141											
PCDHB15	56121	broad.mit.edu	37	chr5	140626678	140626678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccattaacacggacaacgGccacctgttcgctctccagt	9	9	7	16	3	1	0	0	0	1	0	4	1	2	1	4	2	2	2	4	2	2	2			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:140626678G>T	ENST00000231173.3	+	1	1532	c.1532G>T	c.(1531-1533)gGc>gTc	p.G511V		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		511	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGACAACGGCCACCTGTTC	0.682													29	89					1.75199e-13	2.01378e-13	1	0	T	140626678	G	T	140626678	3	4	131	1	0	0	0	0	1	0	0	0	11611	1203	42	4	1534	4	PCDHB15	5	140626678	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	88391186	140626678	40288582	25	25142											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723799	140723799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcgcggagtccgcatcGtctccagaggtaggacgcag	8	5	16	12	6	1	1	0	0	1	1	4	4	2	4	2	4	1	3	2	4	1	1			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:140723799G>A	ENST00000253812.6	+	1	199	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCGCATCGTCTCCAGAGG	0.617											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	163					0	0	0	0	A	140723799	G	A	140723799	3	1	131	1	0	0	0	0	1	0	0	0	11626	1145	40	1	201	1	PCDHGA3	5	140723799	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	97121	140723799	40191461	26	25143											
UNC5A	90249	broad.mit.edu	37	chr5	176295646	176295646	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccctgccgtccaccggAgggcatccctccagccgagg	5	5	13	18	3	0	0	0	0	0	0	3	2	3	1	7	3	3	2	7	3	0	0			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:176295646A>G	ENST00000329542.4	+	4	795	c.521A>G	c.(520-522)gAg>gGg	p.E174G	UNC5A_ENST00000261961.3_Missense_Mutation_p.E134G	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	174	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTCCACCGGAGGGCATCCCT	0.662													3	11					0	0	0	0	G	176295646	A	G	176295646	3	3	131	1	0	0	0	0	1	0	0	0	17087	304	11	5	535	5	UNC5A	5	176295646	Missense_Mutation	SNP	A	TCGA-CQ-5323-01A-01D-1683-08	35571847	176295646	4619614	27	25144											
DDX41	51428	broad.mit.edu	37	chr5	176941732	176941732	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctccatctgctctttcacgGacatgcccccaatgcagagg	8	10	8	15	1	4	1	1	0	3	1	5	2	4	2	3	2	3	2	3	2	1	1			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:176941732G>C	ENST00000507955.1	-	9	1428	c.905C>G	c.(904-906)tCc>tGc	p.S302C		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	302	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CTCTTTCACGGACATGCCCCC	0.627													3	207					0	0	0	0	C	176941732	G	C	176941732	3	2	131	1	0	0	0	0	1	0	0	0	4393	1174	41	2	999	2	DDX41	5	176941732	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	646086	176941732	3973528	28	25145											
MBOAT1	154141	broad.mit.edu	37	chr6	20126818	20126818	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctccagcaacttcatgtgtAtatgcttcccctcaatgaag	10	12	6	13	0	2	1	2	1	0	0	4	1	4	1	4	0	3	3	4	0	5	4			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr6:20126818A>G	ENST00000541730.1	-	6	792	c.197T>C	c.(196-198)aTa>aCa	p.I66T	MBOAT1_ENST00000536798.1_Missense_Mutation_p.I215T|MBOAT1_ENST00000324607.7_Missense_Mutation_p.I215T			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	215					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CTTCATGTGTATATGCTTCCC	0.408											OREG0017224	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	135					0	0	0	0	G	20126818	A	G	20126818	3	3	131	1	0	0	0	0	1	0	0	0	9425	449	16	5	871	5	MBOAT1	6	20126818	Missense_Mutation	SNP	A	TCGA-CQ-5323-01A-01D-1683-08		20126818	150988249	29	25146											
GPR110	266977	broad.mit.edu	37	chr6	46977694	46977694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcatttccatttttggaaaCgggtagaatgttccccagag	11	12	10	8	1	0	2	0	0	0	2	2	3	2	3	3	2	2	3	3	2	3	5			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr6:46977694C>T	ENST00000371253.2	-	11	1692	c.1477G>A	c.(1477-1479)Gtt>Att	p.V493I	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.V296I	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	493					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTTTTGGAAACGGGTAGAATG	0.413													7	67					0	0	0	0	T	46977694	C	T	46977694	3	4	131	1	0	0	0	0	1	0	0	0	6676	536	19	1	1275	1	GPR110	6	46977694	Missense_Mutation	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	26850876	46977694	124137373	30	25147											
FIG4	9896	broad.mit.edu	37	chr6	110106193	110106193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatacttactggtggacacCagaggtgataaagcatttac	13	12	9	7	0	0	2	0	1	0	1	0	3	0	3	1	3	4	1	1	3	6	6			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr6:110106193C>T	ENST00000230124.3	+	17	2034	c.1910C>T	c.(1909-1911)cCa>cTa	p.P637L	FIG4_ENST00000441478.2_Missense_Mutation_p.P360L	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	637					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TGGTGGACACCAGAGGTGATA	0.269													10	90					0	0	0	0	T	110106193	C	T	110106193	3	4	131	1	0	0	0	0	1	0	0	0	5933	594	21	4	1976	4	FIG4	6	110106193	Missense_Mutation	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	63128499	110106193	61008874	31	25148											
ZNF479	90827	broad.mit.edu	37	chr7	57187579	57187579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagggtttctctccagtgtGaattatcttatgtttagcaa	9	17	9	6	0	2	1	0	1	2	0	4	1	3	1	1	1	1	4	1	1	6	6			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr7:57187579G>A	ENST00000331162.4	-	5	1813	c.1543C>T	c.(1543-1545)Cac>Tac	p.H515Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCAGTGTGAATTATCTTA	0.348													5	20					0	0	0	0	A	57187579	G	A	57187579	3	1	131	1	0	0	0	0	1	0	0	0	18028	1290	45	2	35	2	ZNF479	7	57187579	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08		57187579	101951084	32	25149											
ZNF394	84124	broad.mit.edu	37	chr7	99097569	99097569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccgcgggatagttgggctCccaacttccgggtgagtctt	6	10	14	11	3	1	1	0	1	1	0	3	2	3	2	3	3	2	2	3	3	2	4			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr7:99097569C>T	ENST00000337673.6	-	1	351	c.148G>A	c.(148-150)Gag>Aag	p.E50K	ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.E50K|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	50					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TAGTTGGGCTCCCAACTTCCG	0.642													8	57					0	0	0	0	T	99097569	C	T	99097569	3	4	131	1	0	0	0	0	1	0	0	0	17975	864	30	2	1549	2	ZNF394	7	99097569	Missense_Mutation	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	41909990	99097569	60041094	33	25150											
TAS2R16	50833	broad.mit.edu	37	chr7	122634844	122634844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttagaatccttttcaacGtagggctgctcagcatcagt	9	13	8	11	1	3	1	3	0	0	1	4	1	4	1	2	1	3	4	2	1	4	5			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr7:122634844G>A	ENST00000249284.2	-	1	910	c.845C>T	c.(844-846)aCg>aTg	p.T282M		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	282					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTTTTCAACGTAGGGCTGCT	0.423													27	109					0	0	0	0	A	122634844	G	A	122634844	3	1	131	1	0	0	0	0	1	0	0	0	15660	1145	40	1	34	1	TAS2R16	7	122634844	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	23537275	122634844	36503819	34	25151											
MGAM	8972	broad.mit.edu	37	chr7	141766419	141766419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttttgtgaatatttccaGaaatgtcctgcagaccagat	11	14	8	8	0	0	4	0	1	0	3	2	4	2	4	3	0	2	2	3	0	3	4			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr7:141766419G>A	ENST00000475668.2	+	41	4871	c.4817G>A	c.(4816-4818)aGa>aAa	p.R1606K	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1606	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATATTTCCAGAAATGTCCTG	0.502													17	84					0	0	0	0	A	141766419	G	A	141766419	3	1	131	1	0	0	0	0	1	0	0	0	9610	957	33	2		2	MGAM	7	141766419	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	19131575	141766419	17372244	35	25152											
CSMD1	64478	broad.mit.edu	37	chr8	2976061	2976061	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaatccgagttgatcatgTacccattctgaaatgggggt	10	13	11	7	1	2	2	1	2	1	0	3	3	3	2	2	2	1	3	2	2	3	4			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr8:2976061T>C	ENST00000520002.1	-	43	6848	c.6293A>G	c.(6292-6294)tAc>tGc	p.Y2098C	CSMD1_ENST00000542608.1_Missense_Mutation_p.Y2097C|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y2097C|CSMD1_ENST00000602723.1_Missense_Mutation_p.Y2098C|CSMD1_ENST00000400186.3_Missense_Mutation_p.Y2098C|CSMD1_ENST00000602557.1_Missense_Mutation_p.Y2098C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2098	Sushi 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTGATCATGTACCCATTCTG	0.418													22	56					0	0	0	0	C	2976061	T	C	2976061	3	2	131	1	0	0	0	0	1	0	0	0	3976	1638	57	5	4520	5	CSMD1	8	2976061	Missense_Mutation	SNP	T	TCGA-CQ-5323-01A-01D-1683-08		2976061	143387961	36	25153											
PKHD1L1	93035	broad.mit.edu	37	chr8	110447468	110447468	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgctggacatgccccCgttgctgtgtccatggctga	6	10	14	11	1	0	1	0	1	0	0	1	3	1	3	3	3	3	4	3	3	1	1			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr8:110447468C>T	ENST00000378402.5	+	29	3494	c.3390C>T	c.(3388-3390)ccC>ccT	p.P1130P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1130	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACATGCCCCCGTTGCTGTGT	0.408										HNSCC(38;0.096)			55	83					0	0	0	0	T	110447468	C	T	110447468	2	4	131	1	0	0	0	0	0	0	0	1	12044	639	23	1		1	PKHD1L1	8	110447468	Silent	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	107471407	110447468	35916554	37	25154											
LINGO2	158038	broad.mit.edu	37	chr9	27949442	27949442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcttttcacggattttggGttttttgcaggtaaagtaaa	9	18	9	5	1	2	0	1	0	1	0	2	1	2	1	0	3	1	4	0	3	4	10			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:27949442G>T	ENST00000379992.2	-	6	1677	c.1228C>A	c.(1228-1230)Ccc>Acc	p.P410T	LINGO2_ENST00000308675.3_Missense_Mutation_p.P410T	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	410	Ig-like C2-type.					integral to membrane		p.P410T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAG	0.488													12	73					4.36969e-10	4.90976e-10	1	0	T	27949442	G	T	27949442	3	4	131	1	0	0	0	0	1	0	0	0	8870	1261	44	4	596	4	LINGO2	9	27949442	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08		27949442	113263989	38	25155											
PAX5	5079	broad.mit.edu	37	chr9	37015016	37015016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgatggaactgacgctagGcacggtgtcattgtcacaca	10	10	12	9	2	2	2	2	2	0	0	2	3	2	3	0	3	1	3	0	3	2	3			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:37015016G>A	ENST00000358127.4	-	3	462	c.388C>T	c.(388-390)Cct>Tct	p.P130S	PAX5_ENST00000523145.1_Missense_Mutation_p.P22S|PAX5_ENST00000377852.2_Missense_Mutation_p.P130S|PAX5_ENST00000520154.1_Missense_Mutation_p.P130S|PAX5_ENST00000522003.1_Missense_Mutation_p.P22S|PAX5_ENST00000414447.1_Missense_Mutation_p.P130S|PAX5_ENST00000523241.1_Missense_Mutation_p.P130S|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377847.2_Missense_Mutation_p.P130S|PAX5_ENST00000520281.1_Missense_Mutation_p.P130S|PAX5_ENST00000377853.2_Missense_Mutation_p.P130S	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	130	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)|p.N126_P130>RA(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CTGACGCTAGGCACGGTGTCA	0.572			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								10	161					0	0	0	0	A	37015016	G	A	37015016	3	1	131	1	0	0	0	0	1	0	0	0	11553	1203	42	4	819	4	PAX5	9	37015016	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	9065574	37015016	104198415	39	25156											
AGTPBP1	23287	broad.mit.edu	37	chr9	88193977	88193977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacagctgctcatgcaaaatGctggggcgatatggctcagt	10	10	12	9	1	2	0	2	0	0	0	2	1	2	0	0	3	5	5	0	3	4	2			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:88193977G>A	ENST00000357081.3	-	24	3344	c.3200C>T	c.(3199-3201)gCa>gTa	p.A1067V	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.A1027V|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.A1079V			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1067					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CATGCAAAATGCTGGGGCGAT	0.343													44	35					0	0	0	0	A	88193977	G	A	88193977	3	1	131	1	0	0	0	0	1	0	0	0	400	1319	46	4	492	4	AGTPBP1	9	88193977	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	51178961	88193977	53019454	40	25157											
ROR2	4920	broad.mit.edu	37	chr9	94486331	94486331	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgacggggacgtagagctgCggcgggggcaccatgggtct	6	7	19	9	4	1	2	0	1	1	1	1	3	1	3	1	6	2	3	1	6	1	2			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:94486331C>T	ENST00000375708.3	-	9	2643	c.2445G>A	c.(2443-2445)ccG>ccA	p.P815P	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	815	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			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						CGTAGAGCTGCGGCGGGGGCA	0.677													8	78					0	0	0	0	T	94486331	C	T	94486331	2	4	131	1	0	0	0	0	0	0	0	1	13612	755	27	1		1	ROR2	9	94486331	Silent	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	6292354	94486331	46727100	41	25158											
ZNF484	83744	broad.mit.edu	37	chr9	95609543	95609543	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgcttaatgagatttGacctgtcagtaaaggcctta	10	15	10	6	0	1	2	1	2	0	1	1	3	1	2	2	2	1	2	2	2	4	5			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:95609543G>T	ENST00000395505.2	-	3	1510	c.1418C>A	c.(1417-1419)tCa>tAa	p.S473*	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Nonsense_Mutation_p.S509*|ZNF484_ENST00000395506.3_Nonsense_Mutation_p.S511*|ZNF484_ENST00000332591.6_Nonsense_Mutation_p.S473*	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AATGAGATTTGACCTGTCAGT	0.393													42	131					2.19962e-31	2.58779e-31	1	0	T	95609543	G	T	95609543	4	4	131	1	0	0	0	0	0	1	0	0	18032	1294	45	2	1036	2	ZNF484	9	95609543	Nonsense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	1123212	95609543	45603888	42	25159											
GABBR2	9568	broad.mit.edu	37	chr9	101470780	101470780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgatggccagttccacGgcggggagcacaccgcgccc	6	5	14	16	5	0	0	0	0	0	0	2	2	1	1	4	4	2	3	4	4	0	1			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:101470780G>A	ENST00000259455.2	-	1	699	c.240C>T	c.(238-240)gcC>gcT	p.A80A		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	80					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CCAGTTCCACGGCGGGGAGCA	0.697													11	8					0	0	0	0	A	101470780	G	A	101470780	2	1	131	1	0	0	0	0	0	0	0	1	6204	1103	39	1		1	GABBR2	9	101470780	Silent	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	5861237	101470780	39742651	43	25160											
FNBP1	23048	broad.mit.edu	37	chr9	132740855	132740855	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgtaatcattcatttcGttcaggttggaaatgaaagc	11	13	9	8	2	3	1	3	1	0	0	4	2	3	2	1	2	2	3	1	2	3	5			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:132740855G>A	ENST00000420781.1	-	4	452	c.234C>T	c.(232-234)aaC>aaT	p.N78N	FNBP1_ENST00000355681.3_Silent_p.N78N|FNBP1_ENST00000446176.2_Silent_p.N78N			Q96RU3	FNBP1_HUMAN	formin binding protein 1	78	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CATTCATTTCGTTCAGGTTGG	0.433			T	MLL	AML								8	49					0	0	0	0	A	132740855	G	A	132740855	2	1	131	1	0	0	0	0	0	0	0	1	6010	1136	40	1		1	FNBP1	9	132740855	Silent	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	31270075	132740855	8472576	44	25161											
LAMC3	10319	broad.mit.edu	37	chr9	133907471	133907471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcctcatctctctagacCggctcaacacgtttggggac	9	10	8	14	2	4	1	2	0	2	1	6	2	5	2	2	3	2	2	2	3	3	2			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:133907471C>T	ENST00000361069.4	+	3	851	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	240	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCTCTAGACCGGCTCAACAC	0.567													10	149					0	0	0	0	T	133907471	C	T	133907471	3	4	131	1	0	0	0	0	1	0	0	0	8669	643	23	1	728	1	LAMC3	9	133907471	Missense_Mutation	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	1166616	133907471	7305960	45	25162											
PTCHD3	374308	broad.mit.edu	37	chr10	27687277	27687277	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaacatctgttgtctgaatGaagccccgggaagaaatgat	14	9	11	7	1	2	4	0	3	2	1	2	6	2	5	2	1	2	1	2	1	5	1			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:27687277G>A	ENST00000438700.3	-	4	2367	c.2250C>T	c.(2248-2250)ttC>ttT	p.F750F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	750					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TTGTCTGAATGAAGCCCCGGG	0.318													4	24					0	0	0	0	A	27687277	G	A	27687277	2	1	131	1	0	0	0	0	0	0	0	1	12813	1281	45	2		2	PTCHD3	10	27687277	Silent	SNP	G	TCGA-CQ-5323-01A-01D-1683-08		27687277	107847470	46	25163											
LYZL1	84569	broad.mit.edu	37	chr10	29581596	29581596	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaacaaccactgccatgtCgcctgctcaggtgaggctct	9	8	11	13	1	2	2	1	1	1	1	3	3	2	2	3	2	4	2	3	2	2	0			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:29581596C>T	ENST00000375500.3	+	3	483	c.426C>T	c.(424-426)gtC>gtT	p.V142V		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	96					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.V142V(1)		central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				ACTGCCATGTCGCCTGCTCAG	0.537													15	54					0	0	0	0	T	29581596	C	T	29581596	2	4	131	1	0	0	0	0	0	0	0	1	9196	871	31	1		1	LYZL1	10	29581596	Silent	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	1894319	29581596	105953151	47	25164											
PARD3	56288	broad.mit.edu	37	chr10	34671799	34671808	+	Frame_Shift_Del	DEL	ATGGAACCAA	ATGGAACCAA	-																															ttatttgctgcaggaaccacAtggaaccaaatgatgggtgt																										TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:34671799_34671808delATGGAACCAA	ENST00000374789.3	-	9	1384_1393	c.1059_1068delTTGGTTCCAT	c.(1057-1068)atfs	p.IWFH353fs	PARD3_ENST00000340077.5_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.IWFH309fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.IWFH309fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.IWFH83fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.IWFH309fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	353	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CAGGAACCACATGGAACCAAATGATGGGTG	0.4													36	96	---	---	---	---					-	34671808	ATGGAACCAA	-	34671799	7	5	131	1	0	1	0	1	0	0	0	0	11514	214	8	0	3105	0	PARD3	10	34671799	Frame_Shift_Del	DEL	ATGGAACCAA	TCGA-CQ-5323-01A-01D-1683-08	5090203	34671799	100862948	48	25165											
TET1	80312	broad.mit.edu	37	chr10	70405630	70405630	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataatgaagtggagtattgCaaccagttactggacagcag	15	9	11	6	0	0	1	0	1	0	0	0	3	0	3	1	2	4	4	1	2	6	4			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:70405630C>A	ENST00000373644.4	+	4	3353	c.3144C>A	c.(3142-3144)tgC>tgA	p.C1048*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1048					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGGAGTATTGCAACCAGTTAC	0.388													18	80					2.94398e-08	3.27109e-08	1	0	A	70405630	C	A	70405630	4	1	131	1	0	0	0	0	0	1	0	0	15863	718	25	4	3154	4	TET1	10	70405630	Nonsense_Mutation	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	35733831	70405630	65129117	49	25166											
TAF5	6877	broad.mit.edu	37	chr10	105146990	105146990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccggccatcttgctgatGtgaattgtaccagattccat	8	14	9	10	1	1	3	0	2	1	1	2	3	2	3	4	1	3	2	4	1	2	5			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:105146990G>T	ENST00000369839.3	+	9	1911	c.1888G>T	c.(1888-1890)Gtg>Ttg	p.V630L	TAF5_ENST00000351396.4_Missense_Mutation_p.V575L	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	630					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TCTTGCTGATGTGAATTGTAC	0.423													21	39					7.45023e-12	8.46616e-12	1	0	T	105146990	G	T	105146990	3	4	131	1	0	0	0	0	1	0	0	0	15619	1377	48	4	1922	4	TAF5	10	105146990	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	34741360	105146990	30387757	50	25167											
PLEKHA1	59338	broad.mit.edu	37	chr10	124186509	124186509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagcagtctctggcgccAttgtagcacagcggggtccc	8	9	12	12	2	1	0	0	0	1	0	3	0	2	0	2	3	3	3	2	3	3	3			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:124186509A>G	ENST00000368988.1	+	11	985	c.862A>G	c.(862-864)Att>Gtt	p.I288V	PLEKHA1_ENST00000368990.3_Missense_Mutation_p.I288V|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.I288V|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.I288V|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.I288V			Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	288	PH 2.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTCTGGCGCCATTGTAGCACA	0.473													21	43					0	0	0	0	G	124186509	A	G	124186509	3	3	131	1	0	0	0	0	1	0	0	0	12127	217	8	5	900	5	PLEKHA1	10	124186509	Missense_Mutation	SNP	A	TCGA-CQ-5323-01A-01D-1683-08	19039519	124186509	11348238	51	25168											
DPYSL4	10570	broad.mit.edu	37	chr10	134008356	134008356	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccttcacagtggaccaCgtcttccccgacacgggtgt	6	9	11	15	3	2	0	1	0	1	0	3	2	3	1	4	2	1	1	4	2	0	2			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:134008356C>T	ENST00000338492.4	+	4	485	c.321C>T	c.(319-321)caC>caT	p.H107H	DPYSL4_ENST00000368627.1_Silent_p.H30H|DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368629.1_Silent_p.H30H	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	107					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CAGTGGACCACGTCTTCCCCG	0.642													26	77					0	0	0	0	T	134008356	C	T	134008356	2	4	131	1	0	0	0	0	0	0	0	1	4785	535	19	1		1	DPYSL4	10	134008356	Silent	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	9821847	134008356	1526391	52	25169											
TOLLIP	54472	broad.mit.edu	37	chr11	1309866	1309866	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctcaccgcgtaggacatGacgaggttgatcatgccctc	9	8	11	13	3	2	2	2	2	0	0	3	4	2	3	2	2	2	3	2	2	1	2			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr11:1309866G>A	ENST00000527886.1	-	4	680	c.300C>T	c.(298-300)gtC>gtT	p.V100V	TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000317204.6_Silent_p.V169V|TOLLIP_ENST00000542915.1_Silent_p.V119V|TOLLIP_ENST00000525159.1_Silent_p.V108V|TOLLIP_ENST00000263646.7_Silent_p.V141V|TOLLIP_ENST00000528719.1_5'UTR			Q9H0E2	TOLIP_HUMAN	toll interacting protein	169	C2.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		CGTAGGACATGACGAGGTTGA	0.647													13	25					0	0	0	0	A	1309866	G	A	1309866	2	1	131	1	0	0	0	0	0	0	0	1	16444	1277	45	2		2	TOLLIP	11	1309866	Silent	SNP	G	TCGA-CQ-5323-01A-01D-1683-08		1309866	133696650	53	25170											
NELL1	4745	broad.mit.edu	37	chr11	21594899	21594899	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctatggtgtttcacggCttagtggctcagtgtggacg	7	12	14	8	2	2	0	2	0	0	0	2	1	2	1	0	4	1	4	0	4	2	3			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr11:21594899C>G	ENST00000298925.5	+	20	2563	c.2410C>G	c.(2410-2412)Ctt>Gtt	p.L804V	NELL1_ENST00000357134.5_Missense_Mutation_p.L776V|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.L719V|NELL1_ENST00000532434.1_Missense_Mutation_p.L729V			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	776	VWFC 5.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGTTTCACGGCTTAGTGGCTC	0.493													10	107					0	0	0	0	G	21594899	C	G	21594899	3	3	131	1	0	0	0	0	1	0	0	0	10403	797	28	4	2400	4	NELL1	11	21594899	Missense_Mutation	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	20285033	21594899	113411617	54	25171											
CFL1	1072	broad.mit.edu	37	chr11	65623573	65623573	+	Silent	SNP	G	G	A																															atctccttgccctcctccagGatgatgttcttcttgtcctc																								rs144718277		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr11:65623573G>A	ENST00000525451.2	-	3	859	c.144C>T	c.(142-144)atC>atT	p.I48I	CFL1_ENST00000531413.1_Silent_p.I31I|CFL1_ENST00000531407.1_Silent_p.I31I|CFL1_ENST00000524553.1_Silent_p.I31I|CFL1_ENST00000308162.5_Silent_p.I48I|CFL1_ENST00000527344.1_Silent_p.I31I|CFL1_ENST00000534769.1_Silent_p.I86I			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	48	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		CCTCCTCCAGGATGATGTTCT	0.562													5	54					0	0	0	0	A	65623573	G	A	65623573	2	1	131	1	0	0	0	0	0	0	0	1	3319	1164	41	2		2	CFL1	11	65623573	Silent	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	44028674	65623573	69382943	55	25172	207	2									
CFL1	1072	broad.mit.edu	37	chr11	65623576	65623576	+	Silent	SNP	G	G	A																															tccttgccctcctccaggatGatgttcttcttgtcctcact																										TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr11:65623576G>A	ENST00000525451.2	-	3	856	c.141C>T	c.(139-141)atC>atT	p.I47I	CFL1_ENST00000531413.1_Silent_p.I30I|CFL1_ENST00000531407.1_Silent_p.I30I|CFL1_ENST00000524553.1_Silent_p.I30I|CFL1_ENST00000308162.5_Silent_p.I47I|CFL1_ENST00000527344.1_Silent_p.I30I|CFL1_ENST00000534769.1_Silent_p.I85I			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	47	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		CCTCCAGGATGATGTTCTTCT	0.557													4	58					0	0	0	0	A	65623576	G	A	65623576	2	1	131	1	0	0	0	0	0	0	0	1	3319	1280	45	2		2	CFL1	11	65623576	Silent	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	3	65623576	69382940	56	25173	207	2									
CD163	9332	broad.mit.edu	37	chr12	7636068	7636069	+	Frame_Shift_Ins	INS	-	-	A																															ttccctttgcacttcacttcINSattgagccatatcggtccag																										TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr12:7636068_7636069insA	ENST00000359156.4	-	12	3184_3185	c.2982_2983insT	c.(2980-2985)aaaagtfs	p.KS994fs	CD163_ENST00000541972.1_Frame_Shift_Ins_p.KS982fs|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Frame_Shift_Ins_p.KS994fs|CD163_ENST00000396620.3_Frame_Shift_Ins_p.KS1027fs	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	994	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CACTTCACTTCATTGAGCCATA	0.515													25	48	---	---	---	---					A	7636069	-	A	7636068	7	5	131	1	0	1	1	0	0	0	0	0	2996	835	29	0	507	0	CD163	12	7636068	Frame_Shift_Ins	INS	-	TCGA-CQ-5323-01A-01D-1683-08		7636068	126215827	57	25174											
PZP	5858	broad.mit.edu	37	chr12	9349218	9349218	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctaagcttcatttcaaagcCcgtatttgtaatctggagca	11	14	7	9	1	4	0	2	0	2	0	4	1	4	1	1	1	3	4	1	1	4	6			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr12:9349218C>G	ENST00000261336.2	-	9	959	c.931G>C	c.(931-933)Ggc>Cgc	p.G311R	PZP_ENST00000381997.2_Missense_Mutation_p.G180R	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATTTCAAAGCCCGTATTTGTA	0.393													20	58					0	0	0	0	G	9349218	C	G	9349218	3	3	131	1	0	0	0	0	1	0	0	0	12951	623	22	4	3629	4	PZP	12	9349218	Missense_Mutation	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	1713150	9349218	124502677	58	25175											
KRT5	3852	broad.mit.edu	37	chr12	52911893	52911894	+	Frame_Shift_Ins	INS	-	-	A																															cacccacacgcaccttcttcINSagcatcacaaactcattctc																										TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr12:52911893_52911894insA	ENST00000252242.4	-	3	1214_1215	c.824_825insT	c.(823-825)caafs	p.Q275fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	275	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCACCTTCTTCAGCATCACAAA	0.52													93	158	---	---	---	---					A	52911894	-	A	52911893	7	5	131	1	0	1	1	0	0	0	0	0	8531	813	29	0	975	0	KRT5	12	52911893	Frame_Shift_Ins	INS	-	TCGA-CQ-5323-01A-01D-1683-08	43562675	52911893	80940002	59	25176											
CCNA1	8900	broad.mit.edu	37	chr13	37014297	37014297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcgacaaggagtgtgcGtcaggactgagaacctggct	10	7	16	8	2	1	2	1	2	0	1	1	6	1	4	1	4	2	1	1	4	2	0			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr13:37014297G>A	ENST00000418263.1	+	6	1422	c.1072G>A	c.(1072-1074)Gtc>Atc	p.V358I	CCNA1_ENST00000255465.4_Missense_Mutation_p.V359I|CCNA1_ENST00000449823.1_Missense_Mutation_p.V315I|CCNA1_ENST00000440264.1_Missense_Mutation_p.V315I	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	359					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGGAGTGTGCGTCAGGACTGA	0.463													30	24					0	0	0	0	A	37014297	G	A	37014297	3	1	131	1	0	0	0	0	1	0	0	0	2938	1145	40	1	1097	1	CCNA1	13	37014297	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08		37014297	78155581	60	25177											
STRN3	29966	broad.mit.edu	37	chr14	31380280	31380280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatctacactgggactcgGcatattccaccactggatgg	9	10	11	11	1	1	0	0	0	1	0	3	3	2	3	2	5	1	1	2	5	2	3			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr14:31380280G>A	ENST00000355683.5	-	11	1650	c.1435C>T	c.(1435-1437)Ccg>Tcg	p.P479S	STRN3_ENST00000357479.5_Missense_Mutation_p.P563S	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	563					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	p.P479T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGGGACTCGGCATATTCCAC	0.368													3	70					0	0	0	0	A	31380280	G	A	31380280	3	1	131	1	0	0	0	0	1	0	0	0	15420	1203	42	4	730	4	STRN3	14	31380280	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08		31380280	75969260	61	25178											
BAHD1	22893	broad.mit.edu	37	chr15	40758306	40758306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgacttccgccacgggCgcatccttaagaacccccag	9	8	8	16	3	1	2	0	1	1	1	3	2	3	2	5	1	1	1	5	1	3	3			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr15:40758306C>T	ENST00000561234.1	+	7	2576	c.2317C>T	c.(2317-2319)Cgc>Tgc	p.R773C	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Missense_Mutation_p.R771C|BAHD1_ENST00000416165.1_Missense_Mutation_p.R774C			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	774	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCGCCACGGGCGCATCCTTAA	0.622													20	64					0	0	0	0	T	40758306	C	T	40758306	3	4	131	1	0	0	0	0	1	0	0	0	1301	768	27	1	2342	1	BAHD1	15	40758306	Missense_Mutation	SNP	C	TCGA-CQ-5323-01A-01D-1683-08		40758306	61773086	62	25179											
ZFAND6	54469	broad.mit.edu	37	chr15	80412738	80412738	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgctttgttccactggcTgtggattttatggaaaccct	7	16	9	9	0	0	0	0	0	0	0	1	2	1	2	2	3	2	3	2	3	3	5			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr15:80412738T>G	ENST00000261749.6	+	3	474	c.52T>G	c.(52-54)Tgt>Ggt	p.C18G	ZFAND6_ENST00000559157.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000558688.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000558494.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000559835.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000561060.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000558087.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000559775.1_Missense_Mutation_p.C18G	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	18							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TTCCACTGGCTGTGGATTTTA	0.393													29	58					0	0	0	0	G	80412738	T	G	80412738	3	3	131	1	0	0	0	0	1	0	0	0	17726	1580	55	5	54	5	ZFAND6	15	80412738	Missense_Mutation	SNP	T	TCGA-CQ-5323-01A-01D-1683-08	39654432	80412738	22118654	63	25180											
ABCC11	85320	broad.mit.edu	37	chr16	48250156	48250156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggggtccatagcacacccCttcaaacaggtagtttacat	12	10	8	11	0	1	0	1	0	0	0	2	0	2	0	3	3	3	3	3	3	5	6			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr16:48250156C>A	ENST00000394747.1	-	6	1169	c.820G>T	c.(820-822)Ggg>Tgg	p.G274W	ABCC11_ENST00000537808.1_Missense_Mutation_p.G274W|ABCC11_ENST00000356608.2_Missense_Mutation_p.G274W|ABCC11_ENST00000353782.5_Missense_Mutation_p.G274W|ABCC11_ENST00000394748.1_Missense_Mutation_p.G274W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	274	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TAGCACACCCCTTCAAACAGG	0.493													4	165					0.150653	0.155313	1	0	A	48250156	C	A	48250156	3	1	131	1	0	0	0	0	1	0	0	0	51	681	24	4	3424	4	ABCC11	16	48250156	Missense_Mutation	SNP	C	TCGA-CQ-5323-01A-01D-1683-08		48250156	42104597	64	25181											
HYDIN	54768	broad.mit.edu	37	chr16	70891747	70891747	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgactcagtgatgcccagAtggaaaggtgtgaactggaa	13	8	14	6	0	1	4	1	3	0	1	1	7	1	6	1	3	2	0	1	3	3	0			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr16:70891747A>T	ENST00000393567.2	-	72	12306	c.12156T>A	c.(12154-12156)caT>caA	p.H4052Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4052										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGATGCCCAGATGGAAAGGTG	0.468													3	9					0	0	0	0	T	70891747	A	T	70891747	3	4	131	1	0	0	0	0	1	0	0	0	7520	330	12	5	3269	5	HYDIN	16	70891747	Missense_Mutation	SNP	A	TCGA-CQ-5323-01A-01D-1683-08	22641591	70891747	19463006	65	25182											
SLC13A5	284111	broad.mit.edu	37	chr17	6599181	6599181	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacaagggccccagcttccGgtactcctcctgcagcacct	7	7	10	17	1	0	0	0	0	0	0	3	1	3	1	6	3	4	4	6	3	2	2			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:6599181G>T	ENST00000433363.2	-	7	1152	c.919C>A	c.(919-921)Cgg>Agg	p.R307R	SLC13A5_ENST00000293800.6_Silent_p.R290R|SLC13A5_ENST00000381074.4_Silent_p.R264R|SLC13A5_ENST00000573648.1_Silent_p.R307R	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	307						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CCCAGCTTCCGGTACTCCTCC	0.567													26	156					6.07407e-21	7.06288e-21	1	0	T	6599181	G	T	6599181	2	4	131	1	0	0	0	0	0	0	0	1	14483	1115	39	3		3	SLC13A5	17	6599181	Silent	SNP	G	TCGA-CQ-5323-01A-01D-1683-08		6599181	74596029	66	25183											
DNAH9	1770	broad.mit.edu	37	chr17	11725866	11725866	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacgagtggcctcagcaaGcattggagtctgtcagcctc	8	9	11	13	1	3	0	2	0	1	0	5	2	4	1	3	2	3	2	3	2	1	1			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:11725866G>C	ENST00000262442.3	+	47	9030	c.8962G>C	c.(8962-8964)Gca>Cca	p.A2988P	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2988P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2988	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCCTCAGCAAGCATTGGAGTC	0.532													7	175					0	0	0	0	C	11725866	G	C	11725866	3	2	131	1	0	0	0	0	1	0	0	0	4644	971	34	4	9148	4	DNAH9	17	11725866	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	5126685	11725866	69469344	67	25184											
KRT39	390792	broad.mit.edu	37	chr17	39118800	39118800	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctccccaagctgacactGtaaagaattgatttcctaag	12	12	6	11	0	1	3	0	2	1	1	4	3	3	3	3	0	1	2	3	0	5	4			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:39118800G>A	ENST00000355612.2	-	4	759	c.724C>T	c.(724-726)Cag>Tag	p.Q242*	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	242	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGCTGACACTGTAAAGAATTG	0.418													4	133					0	0	0	0	A	39118800	G	A	39118800	4	1	131	1	0	0	0	0	0	1	0	0	8528	1386	48	4	767	4	KRT39	17	39118800	Nonsense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	27392934	39118800	42076410	68	25185											
KRT36	8689	broad.mit.edu	37	chr17	39644901	39644901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcccactcacttggtccGgaagtcgtcagcagccagct	8	7	11	15	2	2	0	2	0	0	0	4	1	3	1	3	3	3	2	3	3	1	1	rs148033888	byFrequency	TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:39644901G>A	ENST00000393986.2	-	3	597	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	KRT36_ENST00000328119.6_Missense_Mutation_p.R179W			O76013	KRT36_HUMAN	keratin 36	179	Linker 1.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CACTTGGTCCGGAAGTCGTCA	0.552													23	42					0	0	0	0	A	39644901	G	A	39644901	3	1	131	1	0	0	0	0	1	0	0	0	8525	1115	39	1	892	1	KRT36	17	39644901	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	526101	39644901	41550309	69	25186											
TRIM37	4591	broad.mit.edu	37	chr17	57125153	57125153	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctcataaacaagatccaGatccagatctccatctgaaa	16	9	4	12	0	3	4	1	1	2	3	7	4	6	4	4	0	1	0	4	0	4	1			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:57125153G>A	ENST00000376149.3	-	16	2001	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L	TRIM37_ENST00000262294.7_Silent_p.L520L|TRIM37_ENST00000393066.3_Silent_p.L520L|TRIM37_ENST00000393065.2_Silent_p.L486L			O94972	TRI37_HUMAN	tripartite motif containing 37	520	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACAAGATCCAGATCCAGATCT	0.418									Mulibrey Nanism				5	57					0	0	0	0	A	57125153	G	A	57125153	2	1	131	1	0	0	0	0	0	0	0	1	16606	933	33	2		2	TRIM37	17	57125153	Silent	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	17480252	57125153	24070057	70	25187											
ZNF236	7776	broad.mit.edu	37	chr18	74611013	74611013	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcctcactgtgacaaaaaaTttcgaacctcaggccatagg	13	9	8	11	1	2	1	2	1	0	0	4	2	3	1	3	2	1	0	3	2	5	2			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr18:74611013T>A	ENST00000253159.8	+	11	1921	c.1723T>A	c.(1723-1725)Ttt>Att	p.F575I	ZNF236_ENST00000320610.9_Missense_Mutation_p.F577I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	575					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGACAAAAAATTTCGAACCTC	0.383													5	63					0	0	0	0	A	74611013	T	A	74611013	3	1	131	1	0	0	0	0	1	0	0	0	17884	1493	52	5	1765	5	ZNF236	18	74611013	Missense_Mutation	SNP	T	TCGA-CQ-5323-01A-01D-1683-08		74611013	3466235	71	25188											
ZNF700	90592	broad.mit.edu	37	chr19	12058339	12058339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtattttaggaaaaaaatgGagtgaccagaacattgaata	18	11	9	3	0	0	3	0	2	0	1	0	5	0	5	1	2	1	1	1	2	8	5			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr19:12058339G>C	ENST00000482090.1	+	2	565	c.147G>C	c.(145-147)tgG>tgC	p.W49C	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.W67C|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GAAAAAAATGGAGTGACCAGA	0.358													3	89					0	0	0	0	C	12058339	G	C	12058339	3	2	131	1	0	0	0	0	1	0	0	0	18199	1183	41	2	211	2	ZNF700	19	12058339	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08		12058339	47070644	72	25189											
ZNF526	116115	broad.mit.edu	37	chr19	42728645	42728645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacctatgtcggcagagatGatggagatgtcaacagaagt	14	8	12	7	1	1	4	1	1	0	3	2	6	1	4	1	2	1	1	1	2	3	1			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr19:42728645G>A	ENST00000301215.3	+	3	315	c.90G>A	c.(88-90)atG>atA	p.M30I		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CGGCAGAGATGATGGAGATGT	0.557													5	85					0	0	0	0	A	42728645	G	A	42728645	3	1	131	1	0	0	0	0	1	0	0	0	18062	1290	45	2	92	2	ZNF526	19	42728645	Missense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	30670306	42728645	16400338	73	25190											
ZNF761	388561	broad.mit.edu	37	chr19	53959551	53959551	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaccttgaaatacatcAgaaaattcatactgaagaga	20	9	5	7	0	3	4	3	2	0	2	3	5	3	4	1	0	3	0	1	0	7	4			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr19:53959551A>G	ENST00000454407.1	+	0	2243							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAAATACATCAGAAAATTCAT	0.408													24	60					0	0	0	0	G	53959551	A	G	53959551	1	3	131	0	1	0	0	0	0	0	0	0	18230	188	7	5		5	ZNF761	19	53959551	RNA	SNP	A	TCGA-CQ-5323-01A-01D-1683-08	11230906	53959551	5169432	74	25191											
TBC1D10A	83874	broad.mit.edu	37	chr22	30688485	30688498	+	Frame_Shift_Del	DEL	ACATGCTGTGGGGG	ACATGCTGTGGGGG	-																															gggctgagtccttcgggggcAcatgctgtgggggacatgca																								rs145310510	byFrequency	TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:30688485_30688498delACATGCTGTGGGGG	ENST00000215790.7	-	9	1557_1570	c.1393_1406delCCCCCACAGCATGT	c.(1393-1407)gfs	p.PPQHV465fs	RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403362.1_Frame_Shift_Del_p.PPQHV377fs|TBC1D10A_ENST00000403477.3_Frame_Shift_Del_p.PPQHV472fs	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	465						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	p.V469G(1)|p.P466Q(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTTCGGGGGCACATGCTGTGGGGGACATGCATCT	0.636													13	194	---	---	---	---					-	30688498	ACATGCTGTGGGGG	-	30688485	7	5	131	1	0	1	0	1	0	0	0	0	15689	159	6	0	124	0	TBC1D10A	22	30688485	Frame_Shift_Del	DEL	ACATGCTGTGGGGG	TCGA-CQ-5323-01A-01D-1683-08		30688485	20616081	75	25192											
TRIOBP	11078	broad.mit.edu	37	chr22	38119916	38119916	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctacacgagacaacccCacaacatcctgtgcccagcg	13	4	8	16	2	0	2	0	0	0	2	1	3	1	2	4	0	6	1	4	0	3	1	rs55853304		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:38119916C>T	ENST00000406386.3	+	7	1608	c.1353C>T	c.(1351-1353)ccC>ccT	p.P451P	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	451					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					GAGACAACCCCACAACATCCT	0.602													8	47					0	0	0	0	T	38119916	C	T	38119916	2	4	131	1	0	0	0	0	0	0	0	1	16648	581	21	4		4	TRIOBP	22	38119916	Silent	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	7431431	38119916	13184650	76	25193											
MKL1	57591	broad.mit.edu	37	chr22	40817050	40817050	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcacctttggcttcagctCcttggccttcttgctgcgct	2	16	8	15	1	3	0	2	0	1	0	4	0	4	0	3	2	3	4	3	2	0	6			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:40817050C>A	ENST00000396617.3	-	10	1272	c.682G>T	c.(682-684)Gag>Tag	p.E228*	MKL1_ENST00000402042.1_Nonsense_Mutation_p.E178*|MKL1_ENST00000355630.3_Nonsense_Mutation_p.E228*|MKL1_ENST00000407029.1_Nonsense_Mutation_p.E228*			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	228	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						GGCTTCAGCTCCTTGGCCTTC	0.597			T	RBM15	acute megakaryocytic leukemia								6	77					8.12818e-05	8.73998e-05	1	0	A	40817050	C	A	40817050	4	1	131	1	0	0	0	0	0	1	0	0	9670	864	30	2	2137	2	MKL1	22	40817050	Nonsense_Mutation	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	2697134	40817050	10487516	77	25194											
SLC25A17	10478	broad.mit.edu	37	chr22	41173340	41173340	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgccattccataaagcCgagattccttcatcgcgaat	12	11	7	11	3	1	1	1	0	0	1	4	3	3	1	4	0	2	0	4	0	4	4			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:41173340C>T	ENST00000402844.3	-	2	1223	c.243G>A	c.(241-243)tcG>tcA	p.S81S	SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000544408.1_Silent_p.S126S|SLC25A17_ENST00000435456.2_Silent_p.S163S|SLC25A17_ENST00000542412.1_Silent_p.S90S			O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	163					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TCCATAAAGCCGAGATTCCTT	0.408													13	26					0	0	0	0	T	41173340	C	T	41173340	2	4	131	1	0	0	0	0	0	0	0	1	14567	639	23	1		1	SLC25A17	22	41173340	Silent	SNP	C	TCGA-CQ-5323-01A-01D-1683-08	356290	41173340	10131226	78	25195											
SBF1	6305	broad.mit.edu	37	chr22	50903692	50903692	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatgcgcacgacgtgcagGcaccagcgatagccctgcag	9	5	14	13	4	0	0	0	0	0	0	0	3	0	1	2	2	5	4	2	2	1	1			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:50903692G>T	ENST00000380817.2	-	11	1338	c.1155C>A	c.(1153-1155)tgC>tgA	p.C385*	SBF1_ENST00000390679.3_Nonsense_Mutation_p.C385*|SBF1_ENST00000348911.6_Nonsense_Mutation_p.C386*	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	385	dDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGACGTGCAGGCACCAGCGAT	0.642													4	7					2.56e-06	2.81319e-06	1	0	T	50903692	G	T	50903692	4	4	131	1	0	0	0	0	0	1	0	0	13944	1195	42	4	4650	4	SBF1	22	50903692	Nonsense_Mutation	SNP	G	TCGA-CQ-5323-01A-01D-1683-08	9730352	50903692	400874	79	25196											
KDM5C	8242	broad.mit.edu	37	chrX	53239931	53239931	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagaagaccatgcccaCgtagagccagggcaccttca	11	5	12	13	1	1	3	1	1	0	3	1	4	1	3	4	2	2	3	4	2	2	2			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chrX:53239931C>A	ENST00000452825.3	-	9	1841	c.1309G>T	c.(1309-1311)Gtg>Ttg	p.V437L	KDM5C_ENST00000375401.3_Missense_Mutation_p.V504L|KDM5C_ENST00000404049.3_Missense_Mutation_p.V503L|KDM5C_ENST00000375379.3_Missense_Mutation_p.V504L|KDM5C_ENST00000375383.3_Missense_Mutation_p.V463L	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	504					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ACCATGCCCACGTAGAGCCAG	0.522			"N, F, S"		clear cell renal carcinoma								3	31					0.115264	0.120067	1	0	A	53239931	C	A	53239931	3	1	131	1	0	0	0	0	1	0	0	0	8187	536	19	3	3334	3	KDM5C	23	53239931	Missense_Mutation	SNP	C	TCGA-CQ-5323-01A-01D-1683-08		53239931	102030629	80	25197											
AKR7L	246181	broad.mit.edu	37	chr1	19596120	19596120	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctcagtccaaagtgcctGaggcaggggaagagctccgt	11	6	13	11	1	1	2	1	1	0	1	3	3	3	3	4	3	3	2	4	3	3	0			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:19596120G>A	ENST00000420396.2	-	0	507				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CAAAGTGCCTGAGGCAGGGGA	0.602													20	42					0	0	0	0	A	19596120	G	A	19596120	1	1	132	0	1	0	0	0	0	0	0	0	477	1277	45	2		2	AKR7L	1	19596120	RNA	SNP	G	TCGA-CQ-5324-01A-01D-1683-08		19596120	229654501	1	25198											
MAP3K6	9064	broad.mit.edu	37	chr1	27682188	27682188	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgtagatgaggtcatctcGagtggcataggtgagcagag	10	9	17	5	1	2	4	1	2	1	2	3	5	2	4	0	4	1	3	0	4	2	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:27682188G>A	ENST00000493901.1	-	29	3999	c.3760C>T	c.(3760-3762)Cga>Tga	p.R1254*	MAP3K6_ENST00000374040.3_Nonsense_Mutation_p.R1246*|MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.R1254*	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1254					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGGTCATCTCGAGTGGCATAG	0.527													9	71					0	0	0	0	A	27682188	G	A	27682188	4	1	132	1	0	0	0	0	0	1	0	0	9323	1066	37	1	114	1	MAP3K6	1	27682188	Nonsense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	8086068	27682188	221568433	2	25199											
YBX1	4904	broad.mit.edu	37	chr1	43166568	43166568	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcggtaccgccgcaacttcaAttaccgacgcagacgcccag	10	6	9	16	6	1	1	1	0	0	1	2	2	1	1	4	1	3	3	4	1	4	3			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:43166568A>G	ENST00000321358.7	+	7	996	c.857A>G	c.(856-858)aAt>aGt	p.N286S		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	286					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGCAACTTCAATTACCGACGC	0.527													12	33					0	0	0	0	G	43166568	A	G	43166568	3	3	132	1	0	0	0	0	1	0	0	0	17565	101	4	5	883	5	YBX1	1	43166568	Missense_Mutation	SNP	A	TCGA-CQ-5324-01A-01D-1683-08	15484380	43166568	206084053	3	25200											
TDRD10	126668	broad.mit.edu	37	chr1	154516537	154516537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcggggctgctggtgaCgagtatcgtcccgaagaccc	7	6	17	11	4	0	2	0	1	0	1	2	5	1	3	2	5	1	3	2	5	2	1			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:154516537C>T	ENST00000368482.4	+	9	1440	c.602C>T	c.(601-603)aCg>aTg	p.T201M	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.T201M	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	201							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGCTGGTGACGAGTATCGTC	0.622													25	48					0	0	0	0	T	154516537	C	T	154516537	3	4	132	1	0	0	0	0	1	0	0	0	15825	536	19	1	632	1	TDRD10	1	154516537	Missense_Mutation	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	111349969	154516537	94734084	4	25201											
NBAS	51594	broad.mit.edu	37	chr2	15557650	15557650	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagttaaaataaaacctaCactattcatcagtaatctta	18	12	4	7	0	3	0	2	0	1	0	3	1	3	1	1	1	2	2	1	1	9	7			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:15557650C>A	ENST00000281513.5	-	24	2789		c.e24+1		NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence											NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATAAAACCTACACTATTCATC	0.323													13	20					0.000219431	0.000224254	1	0	A	15557650	C	A	15557650	5	1	132	1	0	0	0	0	0	0	1	0	10256	492	17	4	4467	4	NBAS	2	15557650	Splice_Site	SNP	C	TCGA-CQ-5324-01A-01D-1683-08		15557650	227641723	5	25202											
ITSN2	50618	broad.mit.edu	37	chr2	24471709	24471710	+	Frame_Shift_Ins	INS	-	-	T																															tcactactatacgtaccaggINSttttttatttgatgctccag																										TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:24471709_24471710insT	ENST00000355123.4	-	26	3605_3606	c.3162_3163insA	c.(3160-3165)aactgafs	p.N*1054fs	ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.N*1027fs|ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.N*1054fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1054	SH3 4.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACGTACCAGGTTTTTTATTTG	0.342													24	69	---	---	---	---					T	24471710	-	T	24471709	7	5	132	1	0	1	1	0	0	0	0	0	7980	1261	44	0	2041	0	ITSN2	2	24471709	Frame_Shift_Ins	INS	-	TCGA-CQ-5324-01A-01D-1683-08	8914059	24471709	218727664	6	25203											
HK2	3099	broad.mit.edu	37	chr2	75116479	75116479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcactgtggtggcccGgcgggcagcccagctctgtg	3	8	18	12	2	1	0	0	0	1	0	1	0	1	0	2	5	3	3	2	5	0	0	rs148653106		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:75116479G>A	ENST00000290573.2	+	17	3083	c.2483G>A	c.(2482-2484)cGg>cAg	p.R828Q	HK2_ENST00000409174.1_Missense_Mutation_p.R800Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	828	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGGTGGCCCGGCGGGCAGCC	0.607													10	17					0	0	0	0	A	75116479	G	A	75116479	3	1	132	1	0	0	0	0	1	0	0	0	7241	1116	39	1	2549	1	HK2	2	75116479	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	50644770	75116479	168082894	7	25204											
NFE2L2	4780	broad.mit.edu	37	chr2	178098956	178098956	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacttctcgacttactccaAgatctatatcttgcctccaa	11	14	3	13	1	3	1	0	0	3	1	6	2	5	1	3	0	3	0	3	0	6	6			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:178098956A>T	ENST00000397062.3	-	2	643	c.89T>A	c.(88-90)cTt>cAt	p.L30H	NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L30R(2)|p.L30H(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTTACTCCAAGATCTATATC	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			19	15					0	0	0	0	T	178098956	A	T	178098956	3	4	132	1	0	0	0	0	1	0	0	0	10438	72	3	5	1744	5	NFE2L2	2	178098956	Missense_Mutation	SNP	A	TCGA-CQ-5324-01A-01D-1683-08	102982477	178098956	65100417	8	25205											
CASP8	841	broad.mit.edu	37	chr2	202131240	202131240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaatctttatgatattGgggaacaactggacagtgaa	15	10	11	5	0	1	3	0	2	1	1	1	5	1	5	0	3	2	1	0	3	6	4			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:202131240G>A	ENST00000358485.4	+	2	404	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	CASP8_ENST00000264274.9_Missense_Mutation_p.G11R|CASP8_ENST00000432109.2_Missense_Mutation_p.G11R|CASP8_ENST00000392258.3_Missense_Mutation_p.G11R|CASP8_ENST00000392259.2_Missense_Mutation_p.G11R|CASP8_ENST00000323492.7_Missense_Mutation_p.G11R|CASP8_ENST00000392266.3_Missense_Mutation_p.G11R|CASP8_ENST00000264275.5_Missense_Mutation_p.G11R	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	11	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.G11R(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTATGATATTGGGGAACAACT	0.403										HNSCC(4;0.00038)			33	17					0	0	0	0	A	202131240	G	A	202131240	3	1	132	1	0	0	0	0	1	0	0	0	2702	1348	47	4	214	4	CASP8	2	202131240	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	24032284	202131240	41068133	9	25206											
MPP4	58538	broad.mit.edu	37	chr2	202509991	202509991	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacccactgaggctcctccTgagccttctgtatggcagac	7	10	10	14	0	1	3	0	2	1	1	3	3	3	3	4	2	2	4	4	2	2	3			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:202509991T>A	ENST00000409474.3	-	22	2063	c.1856A>T	c.(1855-1857)cAg>cTg	p.Q619L	MPP4_ENST00000396886.3_Missense_Mutation_p.Q544L|MPP4_ENST00000447335.2_Missense_Mutation_p.Q612L|MPP4_ENST00000428900.2_Missense_Mutation_p.Q595L|MPP4_ENST00000409143.1_Missense_Mutation_p.Q561L|MPP4_ENST00000359962.5_Missense_Mutation_p.Q619L|MPP4_ENST00000315506.7_Missense_Mutation_p.Q575L	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	619						cytoplasm	protein binding			kidney(1)|lung(11)	12						AGGCTCCTCCTGAGCCTTCTG	0.443													20	8					0	0	0	0	A	202509991	T	A	202509991	3	1	132	1	0	0	0	0	1	0	0	0	9806	1580	55	5	61	5	MPP4	2	202509991	Missense_Mutation	SNP	T	TCGA-CQ-5324-01A-01D-1683-08	378751	202509991	40689382	10	25207											
SETD2	29072	broad.mit.edu	37	chr3	47163754	47163754	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaagtacagtatatgtctGaatctttggttttgcagcaa	12	15	8	6	0	3	1	1	1	2	0	3	1	3	1	0	1	3	5	0	1	6	6			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr3:47163754G>C	ENST00000409792.3	-	3	2414	c.2372C>G	c.(2371-2373)tCa>tGa	p.S791*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTATATGTCTGAATCTTTGGT	0.358			"N, F, S, Mis"		clear cell renal carcinoma								24	47					0	0	0	0	C	47163754	G	C	47163754	4	2	132	1	0	0	0	0	0	1	0	0	14218	1294	45	2	5398	2	SETD2	3	47163754	Nonsense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08		47163754	150858676	11	25208											
NPHP3	27031	broad.mit.edu	37	chr3	132423041	132423041	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataatactccaagcacttaCtttctcaaatcccaactcat	15	12	1	13	0	2	0	2	0	1	0	5	0	4	0	2	0	4	1	2	0	7	4			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr3:132423041C>T	ENST00000326682.8	-	9	1601		c.e9+1		NPHP3_ENST00000337331.5_Splice_Site			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)						maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAAGCACTTACTTTCTCAAAT	0.343													37	66					0	0	0	0	T	132423041	C	T	132423041	5	4	132	1	0	0	0	0	0	0	1	0	10650	579	20	4	2543	4	NPHP3	3	132423041	Splice_Site	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	85259287	132423041	65599389	12	25209											
FNDC3B	64778	broad.mit.edu	37	chr3	172003763	172003763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacattctttcgggaataGagaaaccacaggtatgtctt	14	11	9	7	1	2	2	0	0	2	2	3	4	2	3	1	2	1	1	1	2	5	5			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr3:172003763G>A	ENST00000336824.4	+	7	937	c.838G>A	c.(838-840)Gag>Aag	p.E280K	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E280K|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E280K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	280	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTCGGGAATAGAGAAACCACA	0.353													15	38					0	0	0	0	A	172003763	G	A	172003763	3	1	132	1	0	0	0	0	1	0	0	0	6015	943	33	2	860	2	FNDC3B	3	172003763	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	39580722	172003763	26018667	13	25210											
UGT2B10	7365	broad.mit.edu	37	chr4	69696413	69696413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggattgaatttgtcatgcGccacaaaggagccaaacatc	13	9	9	10	1	1	1	1	1	0	0	2	3	1	3	2	2	3	0	2	2	3	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr4:69696413G>A	ENST00000265403.7	+	6	1430	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	UGT2B10_ENST00000458688.2_Missense_Mutation_p.R384H	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	468					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTTGTCATGCGCCACAAAGGA	0.448													39	60					0	0	0	0	A	69696413	G	A	69696413	3	1	132	1	0	0	0	0	1	0	0	0	17052	1087	38	1	1425	1	UGT2B10	4	69696413	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08		69696413	121457863	14	25211											
ELF2	1998	broad.mit.edu	37	chr4	139980327	139980327	+	Frame_Shift_Del	DEL	T	T	-																															ccgatttaacctctggccccTttatgactgcactgataact																										TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr4:139980327delT	ENST00000394235.2	-	10	2058	c.1556delA	c.(1555-1557)agfs	p.K519fs	ELF2_ENST00000265495.4_Frame_Shift_Del_p.K519fs|ELF2_ENST00000379549.2_Frame_Shift_Del_p.K442fs|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000379550.1_Frame_Shift_Del_p.K531fs|ELF2_ENST00000510408.1_Frame_Shift_Del_p.K459fs|ELF2_ENST00000358635.3_Frame_Shift_Del_p.K471fs	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	531					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CTCTGGCCCCTTTATGACTGC	0.448													63	144	---	---	---	---					-	139980327	T	-	139980327	7	5	132	1	0	1	0	1	0	0	0	0	5092	1609	56	0	193	0	ELF2	4	139980327	Frame_Shift_Del	DEL	T	TCGA-CQ-5324-01A-01D-1683-08	70283914	139980327	51173949	15	25212											
KLKB1	3818	broad.mit.edu	37	chr4	187171481	187171481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagatgcttttgtgtgtcGgaccatctgcacctatcacc	7	13	8	13	1	2	1	1	0	1	1	4	2	3	2	4	1	2	2	4	1	1	3			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr4:187171481G>A	ENST00000264690.6	+	7	870	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	KLKB1_ENST00000513864.1_Missense_Mutation_p.R228Q	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	228	Apple 3.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTTGTGTGTCGGACCATCTGC	0.463													26	67					0	0	0	0	A	187171481	G	A	187171481	3	1	132	1	0	0	0	0	1	0	0	0	8464	1116	39	1	705	1	KLKB1	4	187171481	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	47191154	187171481	3982795	16	25213											
UGT3A1	133688	broad.mit.edu	37	chr5	35955843	35955843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cataatttttggctactactCggaccatgtttccatgctgg	8	15	8	10	1	0	0	0	0	0	0	2	1	1	1	2	3	3	3	2	3	3	6			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:35955843C>T	ENST00000274278.3	-	6	1556	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	UGT3A1_ENST00000507113.1_Missense_Mutation_p.R366Q|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R400Q	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	400						integral to membrane	glucuronosyltransferase activity	p.R400L(1)		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)			GGCTACTACTCGGACCATGTT	0.483													23	50					0	0	0	0	T	35955843	C	T	35955843	3	4	132	1	0	0	0	0	1	0	0	0	17059	884	31	1	380	1	UGT3A1	5	35955843	Missense_Mutation	SNP	C	TCGA-CQ-5324-01A-01D-1683-08		35955843	144959417	17	25214											
HCN1	348980	broad.mit.edu	37	chr5	45262411	45262411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcacttcatttttcggcGtggagctgccaggtgtctgt	4	15	13	9	2	2	0	1	0	1	0	3	1	2	1	1	3	3	2	1	3	0	3			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:45262411G>A	ENST00000303230.4	-	8	2342	c.2285C>T	c.(2284-2286)aCg>aTg	p.T762M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	762						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATTTTTCGGCGTGGAGCTGCC	0.647													12	29					0	0	0	0	A	45262411	G	A	45262411	3	1	132	1	0	0	0	0	1	0	0	0	7046	1145	40	1	391	1	HCN1	5	45262411	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	9306568	45262411	135652849	18	25215											
RAD17	5884	broad.mit.edu	37	chr5	68682287	68682287	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatagtgactatagaagctAacaaggtaagtctctgatta	16	11	9	5	0	1	3	0	2	1	1	2	4	1	3	0	1	2	2	0	1	9	6			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:68682287A>G	ENST00000509734.1	+	10	1600	c.922A>G	c.(922-924)Aac>Gac	p.N308D	RAD17_ENST00000361732.2_Missense_Mutation_p.N297D|RAD17_ENST00000358030.2_Missense_Mutation_p.N132D|RAD17_ENST00000380774.3_Missense_Mutation_p.N308D|RAD17_ENST00000521422.1_Missense_Mutation_p.N132D|RAD17_ENST00000282891.6_Missense_Mutation_p.N211D|RAD17_ENST00000345306.6_Missense_Mutation_p.N297D|RAD17_ENST00000305138.4_Missense_Mutation_p.N297D|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.N297D|RAD17_ENST00000354312.3_Missense_Mutation_p.N297D			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	308					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TATAGAAGCTAACAAGGTAAG	0.284								Other conserved DNA damage response genes					8	16					0	0	0	0	G	68682287	A	G	68682287	3	3	132	1	0	0	0	0	1	0	0	0	13061	362	13	5	965	5	RAD17	5	68682287	Missense_Mutation	SNP	A	TCGA-CQ-5324-01A-01D-1683-08	23419876	68682287	112232973	19	25216											
IQGAP2	10788	broad.mit.edu	37	chr5	75991296	75991296	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaggtagaccatgccacGgacatggtgagccgtgcaat	11	6	14	10	2	0	2	0	1	0	1	0	4	0	4	3	4	3	2	3	4	2	1			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:75991296G>A	ENST00000274364.6	+	32	4308	c.4011G>A	c.(4009-4011)acG>acA	p.T1337T	IQGAP2_ENST00000502745.1_Silent_p.T833T|IQGAP2_ENST00000379730.3_Silent_p.T839T|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000396234.3_Silent_p.T833T	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1337					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACCATGCCACGGACATGGTGA	0.433													12	27					0	0	0	0	A	75991296	G	A	75991296	2	1	132	1	0	0	0	0	0	0	0	1	7868	1103	39	1		1	IQGAP2	5	75991296	Silent	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	7309009	75991296	104923964	20	25217											
ARRDC3	57561	broad.mit.edu	37	chr5	90670932	90670932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtttggtaaatggctGcctttggcaccaccattcgg	6	13	11	11	1	0	0	0	0	0	0	1	0	0	0	4	4	1	4	4	4	2	4			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:90670932G>A	ENST00000265138.3	-	5	943	c.677C>T	c.(676-678)gCa>gTa	p.A226V		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	226					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GTAAATGGCTGCCTTTGGCAC	0.418													20	38					0	0	0	0	A	90670932	G	A	90670932	3	1	132	1	0	0	0	0	1	0	0	0	988	1319	46	4	583	4	ARRDC3	5	90670932	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	14679636	90670932	90244328	21	25218											
NDST1	3340	broad.mit.edu	37	chr5	149901143	149901143	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctggagtccagccgcttCaaataccgcacagagattgc	11	8	9	13	2	1	1	1	0	0	1	3	3	3	2	4	1	3	2	4	1	2	3			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:149901143C>T	ENST00000261797.6	+	2	829	c.327C>T	c.(325-327)ttC>ttT	p.F109F	NDST1_ENST00000523767.1_Silent_p.F109F	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	109	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGCCGCTTCAAATACCGCA	0.612													25	80					0	0	0	0	T	149901143	C	T	149901143	2	4	132	1	0	0	0	0	0	0	0	1	10325	825	29	2		2	NDST1	5	149901143	Silent	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	59230211	149901143	31014117	22	25219											
GRIA1	2890	broad.mit.edu	37	chr5	153149755	153149755	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgctgtgtttgagaagAtgtggacatacatgaagtca	14	12	11	4	0	1	3	1	2	0	2	1	5	1	4	0	1	2	2	0	1	4	3			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:153149755A>T	ENST00000285900.5	+	13	2393	c.2050A>T	c.(2050-2052)Atg>Ttg	p.M684L	GRIA1_ENST00000521843.2_Missense_Mutation_p.M615L|GRIA1_ENST00000518783.1_Missense_Mutation_p.M694L|GRIA1_ENST00000448073.4_Missense_Mutation_p.M694L|GRIA1_ENST00000340592.5_Missense_Mutation_p.M684L|GRIA1_ENST00000518142.1_Missense_Mutation_p.M604L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	684					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTTTGAGAAGATGTGGACATA	0.463													33	62					0	0	0	0	T	153149755	A	T	153149755	3	4	132	1	0	0	0	0	1	0	0	0	6817	333	12	5	2100	5	GRIA1	5	153149755	Missense_Mutation	SNP	A	TCGA-CQ-5324-01A-01D-1683-08	3248612	153149755	27765505	23	25220											
SNRNP48	154007	broad.mit.edu	37	chr6	7601664	7601664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgccctctatgatttcGtagttgaggagacaaagaaa	12	12	10	7	1	2	4	0	2	2	2	3	5	2	4	1	1	1	2	1	1	4	5	rs141422613		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:7601664G>A	ENST00000342415.5	+	5	561	c.502G>A	c.(502-504)Gta>Ata	p.V168I		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	168					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CTATGATTTCGTAGTTGAGGA	0.378													23	32					0	0	0	0	A	7601664	G	A	7601664	3	1	132	1	0	0	0	0	1	0	0	0	14945	1145	40	1	520	1	SNRNP48	6	7601664	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08		7601664	163513403	24	25221											
HLA-B	3106	broad.mit.edu	37	chr6	31323136	31323137	+	Frame_Shift_Ins	INS	-	-	ATGG																															ggcagcccctcatgctgtacINSatggcatgtgtatctctgct																								rs41551415		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:31323136_31323137insATGG	ENST00000412585.2	-	4	880_881	c.852_853insCCAT	c.(850-855)catacafs	p.T285fs		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCATGCTGTACATGGCATGTGT	0.564									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				8	41	---	---	---	---					ATGG	31323137	-	ATGG	31323136	7	5	132	1	0	1	1	0	0	0	0	0	7246	478	17	0	251	0	HLA-B	6	31323136	Frame_Shift_Ins	INS	-	TCGA-CQ-5324-01A-01D-1683-08	23721472	31323136	139791931	25	25222											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32714066	32714066	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacagagactttggtctgCgccctggggttgtctgtggg	4	12	15	10	1	3	1	1	0	2	1	3	2	3	1	1	4	1	1	1	4	0	2	rs143176293		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:32714066C>T	ENST00000374940.3	+	4	765	c.663C>T	c.(661-663)tgC>tgT	p.C221C		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	221					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTTGGTCTGCGCCCTGGGGT	0.552													28	57					0	0	0	0	T	32714066	C	T	32714066	2	4	132	1	0	0	0	0	0	0	0	1	7255	776	27	1		1	HLA-DQA2	6	32714066	Silent	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	1390930	32714066	138401001	26	25223											
ZNF318	24149	broad.mit.edu	37	chr6	43306213	43306213	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttcacttcctgtcatCaatttattggactgttcagc	8	16	8	9	0	4	0	4	0	0	0	5	2	5	2	1	2	1	2	1	2	2	6			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:43306213C>A	ENST00000361428.2	-	10	5600	c.5523G>T	c.(5521-5523)ttG>ttT	p.L1841F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1841					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTCCTGTCATCAATTTATTGG	0.378													28	39					2.48779e-11	2.69029e-11	1	0	A	43306213	C	A	43306213	3	1	132	1	0	0	0	0	1	0	0	0	17931	825	29	2	1320	2	ZNF318	6	43306213	Missense_Mutation	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	10592147	43306213	127808854	27	25224											
DST	667	broad.mit.edu	37	chr6	56496014	56496017	+	Frame_Shift_Del	DEL	TATG	TATG	-																															atagcagttacatacttatcTatgtaagtggaagacataga																										TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:56496014_56496017delTATG	ENST00000370754.5	-	29	4034_4037	c.4035_4038delCATA	c.(4033-4038)tafs	p.YI1345fs	DST_ENST00000244364.6_Frame_Shift_Del_p.YI841fs|DST_ENST00000370769.4_Frame_Shift_Del_p.YI1167fs|DST_ENST00000518935.1_Frame_Shift_Del_p.YI841fs|DST_ENST00000421834.2_Frame_Shift_Del_p.YI1167fs|DST_ENST00000446842.2_Frame_Shift_Del_p.YI841fs|DST_ENST00000370765.6_Frame_Shift_Del_p.YI841fs|DST_ENST00000370788.2_Frame_Shift_Del_p.YI1167fs|DST_ENST00000361203.3_Frame_Shift_Del_p.YI1167fs|DST_ENST00000312431.6_Frame_Shift_Del_p.YI1167fs			Q03001	DYST_HUMAN	dystonin	1167					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATACTTATCTATGTAAGTGGAAG	0.304													15	47	---	---	---	---					-	56496017	TATG	-	56496014	7	5	132	1	0	1	0	1	0	0	0	0	4819	1512	53	0	17905	0	DST	6	56496014	Frame_Shift_Del	DEL	TATG	TCGA-CQ-5324-01A-01D-1683-08	13189801	56496014	114619053	28	25225											
DST	667	broad.mit.edu	37	chr6	56496801	56496802	+	Frame_Shift_Del	DEL	AG	AG	-																															agtctaatgtttcgaacttcAgagatgtagagattataaac																										TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:56496801_56496802delAG	ENST00000370754.5	-	28	3742_3743	c.3743_3744delCT	c.(3742-3744)tfs	p.S1248fs	DST_ENST00000244364.6_Frame_Shift_Del_p.S744fs|DST_ENST00000370769.4_Frame_Shift_Del_p.S1070fs|DST_ENST00000518935.1_Frame_Shift_Del_p.S744fs|DST_ENST00000421834.2_Frame_Shift_Del_p.S1070fs|DST_ENST00000446842.2_Frame_Shift_Del_p.S744fs|DST_ENST00000370765.6_Frame_Shift_Del_p.S744fs|DST_ENST00000370788.2_Frame_Shift_Del_p.S1070fs|DST_ENST00000361203.3_Frame_Shift_Del_p.S1070fs|DST_ENST00000312431.6_Frame_Shift_Del_p.S1070fs			Q03001	DYST_HUMAN	dystonin	1070					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCGAACTTCAGAGATGTAGAG	0.361													17	37	---	---	---	---					-	56496802	AG	-	56496801	7	5	132	1	0	1	0	1	0	0	0	0	4819	175	7	0	18203	0	DST	6	56496801	Frame_Shift_Del	DEL	AG	TCGA-CQ-5324-01A-01D-1683-08	787	56496801	114618266	29	25226											
DOPEY1	23033	broad.mit.edu	37	chr6	83845504	83845504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagggtttcagtacagCgtgtacaagcagaacgttat	12	10	11	8	2	2	2	2	0	0	2	2	2	2	2	0	1	5	5	0	1	5	4			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:83845504C>T	ENST00000349129.2	+	20	3297	c.3037C>T	c.(3037-3039)Cgt>Tgt	p.R1013C	DOPEY1_ENST00000237163.5_Missense_Mutation_p.R994C|DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1004C	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1013					protein transport			p.R1013C(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTCAGTACAGCGTGTACAAGC	0.433													40	62					0	0	0	0	T	83845504	C	T	83845504	3	4	132	1	0	0	0	0	1	0	0	0	4743	768	27	1	3107	1	DOPEY1	6	83845504	Missense_Mutation	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	27348703	83845504	87269563	30	25227											
LATS1	9113	broad.mit.edu	37	chr6	150005729	150005729	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgattgctgcacattccCtatggttataagagagataa	14	12	8	7	0	0	3	0	1	0	2	1	4	1	3	1	1	3	3	1	1	5	6			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:150005729C>T	ENST00000543571.1	-	4	1044		c.e4-1		LATS1_ENST00000253339.5_Splice_Site|LATS1_ENST00000542747.1_Splice_Site|LATS1_ENST00000392273.3_Splice_Site	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1						cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGCACATTCCCTATGGTTATA	0.383													18	33					0	0	0	0	T	150005729	C	T	150005729	5	4	132	1	0	0	0	0	0	0	1	0	8699	695	24	4	2916	4	LATS1	6	150005729	Splice_Site	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	66160225	150005729	21109338	31	25228											
C7orf57	136288	broad.mit.edu	37	chr7	48080963	48080963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtcccagtgaagcgctctGagaaggccgtggatgcccca	9	6	13	13	3	1	2	0	2	1	1	2	4	2	3	4	2	2	1	4	2	2	0			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr7:48080963G>A	ENST00000348904.3	+	3	300	c.88G>A	c.(88-90)Gag>Aag	p.E30K	C7orf57_ENST00000420324.1_Missense_Mutation_p.E75K|C7orf57_ENST00000430738.1_Missense_Mutation_p.E75K|C7orf57_ENST00000539619.1_Missense_Mutation_p.E30K|C7orf57_ENST00000435376.1_5'UTR	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	30										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GAAGCGCTCTGAGAAGGCCGT	0.587													9	25					0	0	0	0	A	48080963	G	A	48080963	3	1	132	1	0	0	0	0	1	0	0	0	2427	1291	45	2	94	2	C7orf57	7	48080963	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08		48080963	111057700	32	25229											
GRM3	2913	broad.mit.edu	37	chr7	86415775	86415775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcctccgagggtgattacGgggagacagggatcgaggcc	9	6	17	9	3	0	2	0	1	0	1	2	6	1	3	3	5	2	0	3	5	2	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr7:86415775G>A	ENST00000361669.2	+	3	1766	c.667G>A	c.(667-669)Ggg>Agg	p.G223R	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.G95R|GRM3_ENST00000394720.2_Missense_Mutation_p.G221R|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.G223R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	223					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGGTGATTACGGGGAGACAGG	0.612													26	42					0	0	0	0	A	86415775	G	A	86415775	3	1	132	1	0	0	0	0	1	0	0	0	6848	1116	39	1	673	1	GRM3	7	86415775	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	38334812	86415775	72722888	33	25230											
PTDSS1	9791	broad.mit.edu	37	chr8	97311963	97311963	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccaattttgccgagtgctgGtgggatcaagtcattctgga	8	12	12	9	1	3	0	2	0	1	0	3	3	3	2	2	3	2	1	2	3	2	3			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr8:97311963G>A	ENST00000517309.1	+	6	968	c.642G>A	c.(640-642)tgG>tgA	p.W214*	PTDSS1_ENST00000455950.2_Nonsense_Mutation_p.W68*|PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000522072.1_Nonsense_Mutation_p.W11*	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	214					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CCGAGTGCTGGTGGGATCAAG	0.493													47	68					0	0	0	0	A	97311963	G	A	97311963	4	1	132	1	0	0	0	0	0	1	0	0	12815	1270	44	4	664	4	PTDSS1	8	97311963	Nonsense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08		97311963	49052059	34	25231											
CCNJ	54619	broad.mit.edu	37	chr10	97817643	97817643	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagggcaagcaggacctcAgtcagcgcaactaagtgtat	13	6	13	9	1	2	1	2	0	0	1	2	3	2	2	1	2	3	4	1	2	4	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr10:97817643A>G	ENST00000265992.5	+	6	1131	c.764A>G	c.(763-765)cAg>cGg	p.Q255R	CCNJ_ENST00000534974.1_Missense_Mutation_p.Q255R|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.Q254R|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.Q266R|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	255						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		GCAGGACCTCAGTCAGCGCAA	0.468													31	17					0	0	0	0	G	97817643	A	G	97817643	3	3	132	1	0	0	0	0	1	0	0	0	2957	188	7	5	815	5	CCNJ	10	97817643	Missense_Mutation	SNP	A	TCGA-CQ-5324-01A-01D-1683-08		97817643	37717104	35	25232											
HRAS	3265	broad.mit.edu	37	chr11	534285	534285	+	Missense_Mutation	SNP	C	C	A																															tcagcgcactcttgcccacaCcgccggcgcccaccaccacc																								rs104894226		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr11:534285C>A	ENST00000417302.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			21	12					1.9806e-07	2.06961e-07	1	0	A	534285	C	A	534285	3	1	132	1	0	0	0	0	1	0	0	0	7398	507	18	4	614	4	HRAS	11	534285	Missense_Mutation	SNP	C	TCGA-CQ-5324-01A-01D-1683-08		534285	134472231	36	25233	208	2									
HRAS	3265	broad.mit.edu	37	chr11	534291	534291	+	Missense_Mutation	SNP	G	G	T																															cactcttgcccacaccgccgGcgcccaccaccaccagctta																										TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr11:534291G>T	ENST00000417302.1	-	2	219	c.32C>A	c.(31-33)gCc>gAc	p.A11D	HRAS_ENST00000451590.1_Missense_Mutation_p.A11D|HRAS_ENST00000397596.2_Missense_Mutation_p.A11D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.A11D|HRAS_ENST00000397594.1_Missense_Mutation_p.A11D	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	11					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CACACCGCCGGCGCCCACCAC	0.652		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			19	11					3.99206e-14	4.41978e-14	1	0	T	534291	G	T	534291	3	4	132	1	0	0	0	0	1	0	0	0	7398	1203	42	4	620	4	HRAS	11	534291	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	6	534291	134472225	37	25234	208	2									
DNHD1	144132	broad.mit.edu	37	chr11	6593070	6593070	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgacctgactgtgtacTcgtgtcctgtgtacatggga	7	11	12	11	2	0	1	0	1	0	0	2	3	1	2	3	1	3	2	3	1	2	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr11:6593070T>A	ENST00000254579.6	+	43	14680	c.14116T>A	c.(14116-14118)Tcg>Acg	p.S4706T	DNHD1_ENST00000527990.2_Missense_Mutation_p.S4706T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4706					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GACTGTGTACTCGTGTCCTGT	0.627													13	54					0	0	0	0	A	6593070	T	A	6593070	3	1	132	1	0	0	0	0	1	0	0	0	4704	1551	54	5	14287	5	DNHD1	11	6593070	Missense_Mutation	SNP	T	TCGA-CQ-5324-01A-01D-1683-08	6058779	6593070	128413446	38	25235											
ANO5	203859	broad.mit.edu	37	chr11	22276979	22276979	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaatatgaatgggacctgGtggactttgaagaggaacag	13	9	15	4	0	0	3	0	2	0	1	0	7	0	7	1	5	1	0	1	5	5	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr11:22276979G>C	ENST00000324559.8	+	13	1560	c.1243G>C	c.(1243-1245)Gtg>Ctg	p.V415L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	415						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGGGACCTGGTGGACTTTGA	0.363													52	82					0	0	0	0	C	22276979	G	C	22276979	3	2	132	1	0	0	0	0	1	0	0	0	699	1261	44	4	1293	4	ANO5	11	22276979	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	15683909	22276979	112729537	39	25236											
MARK2	2011	broad.mit.edu	37	chr11	63668102	63668102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacggactgtgaaaacctGcttaagaaatttctcattct	12	13	6	10	1	2	2	1	1	2	1	4	3	3	3	2	1	2	1	2	1	4	3			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr11:63668102G>A	ENST00000402010.2	+	9	1419	c.840G>A	c.(838-840)ctG>ctA	p.L280L	MARK2_ENST00000509502.2_Silent_p.L247L|MARK2_ENST00000350490.7_Silent_p.L280L|MARK2_ENST00000502399.3_Silent_p.L280L|MARK2_ENST00000513765.2_Silent_p.L247L|MARK2_ENST00000377809.4_Silent_p.L280L|MARK2_ENST00000508192.1_Silent_p.L280L|MARK2_ENST00000408948.3_Silent_p.L247L|MARK2_ENST00000413835.2_Silent_p.L280L|MARK2_ENST00000361128.5_Silent_p.L280L|MARK2_ENST00000377810.3_Silent_p.L247L|MARK2_ENST00000425897.2_Silent_p.L247L|MARK2_ENST00000315032.8_Silent_p.L280L	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	280	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGAAAACCTGCTTAAGAAAT	0.507													97	180					0	0	0	0	A	63668102	G	A	63668102	2	1	132	1	0	0	0	0	0	0	0	1	9382	1306	46	4		4	MARK2	11	63668102	Silent	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	41391123	63668102	71338414	40	25237											
ADAMTS20	80070	broad.mit.edu	37	chr12	43826253	43826253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgagacctttcccctcCtccacaactcctggaacact	8	11	4	18	1	1	1	0	0	1	1	6	3	5	2	6	1	2	0	6	1	2	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr12:43826253C>T	ENST00000389420.3	-	21	2949	c.2950G>A	c.(2950-2952)Gga>Aga	p.G984R	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G138R|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G984R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	984	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTTCCCCTCCTCCACAACTC	0.368													18	35					0	0	0	0	T	43826253	C	T	43826253	3	4	132	1	0	0	0	0	1	0	0	0	266	690	24	4	2857	4	ADAMTS20	12	43826253	Missense_Mutation	SNP	C	TCGA-CQ-5324-01A-01D-1683-08		43826253	90025642	41	25238											
LRP1	4035	broad.mit.edu	37	chr12	57601972	57601972	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatgattgacgagccccAcgccattgtggtggacccac	8	7	13	13	2	0	2	0	2	0	0	0	4	0	3	4	3	1	1	4	3	0	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr12:57601972A>G	ENST00000243077.3	+	77	12477	c.12011A>G	c.(12010-12012)cAc>cGc	p.H4004R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4004					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACGAGCCCCACGCCATTGTG	0.657													7	12					0	0	0	0	G	57601972	A	G	57601972	3	3	132	1	0	0	0	0	1	0	0	0	9015	159	6	5	12317	5	LRP1	12	57601972	Missense_Mutation	SNP	A	TCGA-CQ-5324-01A-01D-1683-08	13775719	57601972	76249923	42	25239											
PAN3	255967	broad.mit.edu	37	chr13	28771372	28771372	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggctagttccgatgggAtcaaaggcacgaaaagcaaa	16	5	13	7	2	1	1	1	0	0	1	2	5	2	2	1	3	1	4	1	3	5	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr13:28771372A>T	ENST00000380958.3	+	5	893	c.741A>T	c.(739-741)ggA>ggT	p.G247G	PAN3_ENST00000399613.1_Intron	NM_175854.7	NP_787050.6	Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	247	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTCCGATGGGATCAAAGGCAC	0.493													5	7					0	0	0	0	T	28771372	A	T	28771372	2	4	132	1	0	0	0	0	0	0	0	1	11486	320	12	5		5	PAN3	13	28771372	Silent	SNP	A	TCGA-CQ-5324-01A-01D-1683-08		28771372	86398506	43	25240											
DNAJC15	29103	broad.mit.edu	37	chr13	43597852	43597852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaacggccagacgccgaCgtcgaccagcagagactggt	11	3	13	14	5	0	2	0	0	0	2	1	5	0	2	4	2	2	1	4	2	1	0			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr13:43597852C>T	ENST00000379221.2	+	1	514	c.90C>T	c.(88-90)gaC>gaT	p.D30D	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	30						integral to membrane	heat shock protein binding			endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		CAGACGCCGACGTCGACCAGC	0.642													4	9					0	0	0	0	T	43597852	C	T	43597852	2	4	132	1	0	0	0	0	0	0	0	1	4670	535	19	1		1	DNAJC15	13	43597852	Silent	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	14826480	43597852	71572026	44	25241											
ATP4B	496	broad.mit.edu	37	chr13	114304774	114304774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagactgaaggtgccgttggGagggtagtacttgacctgca	9	9	15	8	1	0	3	0	2	0	1	0	4	0	4	2	3	3	4	2	3	3	4			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr13:114304774G>A	ENST00000335288.4	-	6	702	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	221					ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	GTGCCGTTGGGAGGGTAGTAC	0.622													24	37					0	0	0	0	A	114304774	G	A	114304774	3	1	132	1	0	0	0	0	1	0	0	0	1150	1174	41	2	222	2	ATP4B	13	114304774	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	70706922	114304774	865104	45	25242											
TPPP2	122664	broad.mit.edu	37	chr14	21499180	21499180	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taactgaccagggccaagaaCgcccgaaccatcacgtttca	13	6	8	14	3	2	2	2	1	0	1	2	3	2	2	4	1	3	1	4	1	4	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr14:21499180C>T	ENST00000321760.6	+	3	331	c.183C>T	c.(181-183)aaC>aaT	p.N61N	TPPP2_ENST00000530140.2_Silent_p.N61N|TPPP2_ENST00000460647.2_Silent_p.N61N|NDRG2_ENST00000403829.3_Intron	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	61						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGGCCAAGAACGCCCGAACCA	0.483													12	23					0	0	0	0	T	21499180	C	T	21499180	2	4	132	1	0	0	0	0	0	0	0	1	16509	535	19	1		1	TPPP2	14	21499180	Silent	SNP	C	TCGA-CQ-5324-01A-01D-1683-08		21499180	85850360	46	25243											
TINF2	26277	broad.mit.edu	37	chr14	24709835	24709835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagggaaacagcatgactGtggggcgctccttatggcct	10	9	13	9	1	0	1	0	1	0	0	1	2	1	2	2	4	2	2	2	4	4	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr14:24709835G>A	ENST00000399423.4	-	6	1181	c.851C>T	c.(850-852)aCa>aTa	p.T284I	TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000559019.1_3'UTR|TINF2_ENST00000267415.7_Missense_Mutation_p.T284I|TINF2_ENST00000538777.1_Missense_Mutation_p.T70I|TINF2_ENST00000540705.1_Missense_Mutation_p.T249I	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	284					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CAGCATGACTGTGGGGCGCTC	0.552									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				17	28					0	0	0	0	A	24709835	G	A	24709835	3	1	132	1	0	0	0	0	1	0	0	0	16017	1377	48	4	524	4	TINF2	14	24709835	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	3210655	24709835	82639705	47	25244											
TP53BP1	7158	broad.mit.edu	37	chr15	43720231	43720231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctcagttacttttctttCtacttctgttccatccacat	7	19	2	13	0	4	0	1	0	3	0	6	0	6	0	3	0	3	2	3	0	3	8			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr15:43720231C>T	ENST00000263801.3	-	18	4048	c.3796G>A	c.(3796-3798)Gaa>Aaa	p.E1266K	TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1271K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1271K|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1271K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1266					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACTTTTCTTTCTACTTCTGTT	0.383								Other conserved DNA damage response genes					39	90					0	0	0	0	T	43720231	C	T	43720231	3	4	132	1	0	0	0	0	1	0	0	0	16478	922	32	2	2166	2	TP53BP1	15	43720231	Missense_Mutation	SNP	C	TCGA-CQ-5324-01A-01D-1683-08		43720231	58811161	48	25245											
SEC11A	23478	broad.mit.edu	37	chr15	85230875	85230875	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcatgaatcttcaagaCtcggtgaactataggaatct	12	14	7	8	1	4	3	2	2	2	1	5	4	4	4	0	2	1	0	0	2	6	5			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr15:85230875C>G	ENST00000268220.7	-	3	932	c.292G>C	c.(292-294)Gtc>Ctc	p.V98L	SEC11A_ENST00000560266.1_Missense_Mutation_p.V98L|SEC11A_ENST00000455959.3_Missense_Mutation_p.V72L|SEC11A_ENST00000558134.1_Missense_Mutation_p.V98L	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	98					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			ATCTTCAAGACTCGGTGAACT	0.343													21	75					0	0	0	0	G	85230875	C	G	85230875	3	3	132	1	0	0	0	0	1	0	0	0	14065	565	20	4	263	4	SEC11A	15	85230875	Missense_Mutation	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	41510644	85230875	17300517	49	25246											
CACNA1H	8912	broad.mit.edu	37	chr16	1265063	1265063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtagcatttgggttccGtcggttcttcaaggacaggt	6	13	14	8	2	2	0	1	0	1	0	4	1	3	1	1	5	1	5	1	5	2	5			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr16:1265063G>A	ENST00000348261.5	+	28	5269	c.5021G>A	c.(5020-5022)cGt>cAt	p.R1674H	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1668H|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1668H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1674					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TTTGGGTTCCGTCGGTTCTTC	0.622													7	10					0	0	0	0	A	1265063	G	A	1265063	3	1	132	1	0	0	0	0	1	0	0	0	2570	1145	40	1	5127	1	CACNA1H	16	1265063	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08		1265063	89089690	50	25247											
TBC1D24	57465	broad.mit.edu	37	chr16	2546268	2546268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaactgaagcagctggcgcGccagggctactgggcccaaa	10	4	15	12	2	0	1	0	1	0	0	0	2	0	2	2	4	4	3	2	4	4	1			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr16:2546268G>A	ENST00000567020.1	+	2	259	c.119G>A	c.(118-120)cGc>cAc	p.R40H	RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.R40H|TBC1D24_ENST00000293970.5_Missense_Mutation_p.R40H|TBC1D24_ENST00000434757.2_Missense_Mutation_p.R40H	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	40					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CAGCTGGCGCGCCAGGGCTAC	0.642													13	31					0	0	0	0	A	2546268	G	A	2546268	3	1	132	1	0	0	0	0	1	0	0	0	15705	1087	38	1	121	1	TBC1D24	16	2546268	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	1281205	2546268	87808485	51	25248											
SEPT12	124404	broad.mit.edu	37	chr16	4833992	4833992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggtgtctgggatgtggCgctggcgggtgatgaggatc	4	9	20	8	3	1	2	0	2	1	0	2	4	1	4	1	6	0	1	1	6	0	0			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr16:4833992C>T	ENST00000268231.8	-	5	715	c.452G>A	c.(451-453)cGc>cAc	p.R151H	SEPT12_ENST00000396693.5_Intron	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	151					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TGGGATGTGGCGCTGGCGGGT	0.642													4	107					0	0	0	0	T	4833992	C	T	4833992	3	4	132	1	0	0	0	0	1	0	0	0	14149	768	27	1	648	1	SEPT12	16	4833992	Missense_Mutation	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	2287724	4833992	85520761	52	25249											
GRIN2A	2903	broad.mit.edu	37	chr16	9943686	9943686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggggtctatgtcttccaCgatgacgaatggggcctcct	7	10	13	11	2	2	1	0	1	2	0	4	3	4	1	3	4	0	0	3	4	2	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr16:9943686C>T	ENST00000396573.2	-	6	1564	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	GRIN2A_ENST00000404927.2_Missense_Mutation_p.V419M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V419M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V419M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V262M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V419M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	419					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGTCTTCCACGATGACGAAT	0.572													24	45					0	0	0	0	T	9943686	C	T	9943686	3	4	132	1	0	0	0	0	1	0	0	0	6829	536	19	1	3175	1	GRIN2A	16	9943686	Missense_Mutation	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	5109694	9943686	80411067	53	25250											
ZFHX3	463	broad.mit.edu	37	chr16	72993515	72993515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccttgcttgccccccGcgccagggagagagttcagg	5	7	14	15	2	1	1	1	0	0	1	2	3	2	2	6	3	2	2	6	3	0	3			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr16:72993515G>A	ENST00000268489.5	-	2	1202	c.530C>T	c.(529-531)gCg>gTg	p.A177V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	177					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTGCCCCCCGCGCCAGGGAG	0.637													12	44					0	0	0	0	A	72993515	G	A	72993515	3	1	132	1	0	0	0	0	1	0	0	0	17729	1087	38	1	10617	1	ZFHX3	16	72993515	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	63049829	72993515	17361238	54	25251											
NEK8	284086	broad.mit.edu	37	chr17	27067575	27067575	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagcgagttgtatgtggtatCgattcctccatgatcctcac	8	13	9	11	2	1	1	1	1	0	0	5	3	4	1	3	1	1	3	3	1	2	4			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr17:27067575C>G	ENST00000268766.6	+	11	1546	c.1512C>G	c.(1510-1512)atC>atG	p.I504M	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	504						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TATGTGGTATCGATTCCTCCA	0.587													28	43					0	0	0	0	G	27067575	C	G	27067575	3	3	132	1	0	0	0	0	1	0	0	0	10400	874	31	3	1554	3	NEK8	17	27067575	Missense_Mutation	SNP	C	TCGA-CQ-5324-01A-01D-1683-08		27067575	54127635	55	25252											
NF1	4763	broad.mit.edu	37	chr17	29657375	29657375	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatttaaaaatcgagggcCagttactagagacatcaggt	15	11	9	6	1	1	1	1	0	0	1	2	3	1	1	1	2	1	1	1	2	6	5			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr17:29657375C>T	ENST00000358273.4	+	39	6054	c.5671C>T	c.(5671-5673)Cag>Tag	p.Q1891*	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1870*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1891					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.Q1891*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATCGAGGGCCAGTTACTAGA	0.398			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			5	69					0	0	0	0	T	29657375	C	T	29657375	4	4	132	1	0	0	0	0	0	1	0	0	10426	595	21	4	5886	4	NF1	17	29657375	Nonsense_Mutation	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	2589800	29657375	51537835	56	25253											
NPEPPS	9520	broad.mit.edu	37	chr17	45663002	45663002	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaaacaaggtcaaaagAtggtgtgtgtgtccgtgttt	11	13	13	4	1	1	2	1	0	0	2	2	2	2	2	1	2	1	2	1	2	5	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr17:45663002A>G	ENST00000322157.4	+	6	1022	c.785A>G	c.(784-786)gAt>gGt	p.D262G	NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D258G|NPEPPS_ENST00000544660.1_Missense_Mutation_p.D182G	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	262					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						AGGTCAAAAGATGGTGTGTGT	0.418													45	101					0	0	0	0	G	45663002	A	G	45663002	3	3	132	1	0	0	0	0	1	0	0	0	10645	333	12	5	807	5	NPEPPS	17	45663002	Missense_Mutation	SNP	A	TCGA-CQ-5324-01A-01D-1683-08	16005627	45663002	35532208	57	25254											
USP32	84669	broad.mit.edu	37	chr17	58257980	58257980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgacgtaatggcccccacCcagaattcctgaatggcact	11	8	9	13	1	0	3	0	2	0	1	1	3	1	3	4	2	0	2	4	2	3	2	rs17405746		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr17:58257980C>T	ENST00000300896.4	-	33	4761	c.4567G>A	c.(4567-4569)Ggt>Agt	p.G1523S	USP32_ENST00000592339.1_Missense_Mutation_p.G1193S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1523					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGGCCCCCACCCAGAATTCCT	0.443													12	22					0	0	0	0	T	58257980	C	T	58257980	3	4	132	1	0	0	0	0	1	0	0	0	17159	623	22	4	255	4	USP32	17	58257980	Missense_Mutation	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	12594978	58257980	22937230	58	25255											
NEDD4L	23327	broad.mit.edu	37	chr18	55711935	55711935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtctatggactttccgaaGacgaggtgagtggcaccccc	8	8	13	12	3	1	2	0	1	1	1	2	5	2	3	3	4	0	1	3	4	2	2	rs12968145		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr18:55711935G>A	ENST00000382850.4	+	1	156	c.43G>A	c.(43-45)Gac>Aac	p.D15N	NEDD4L_ENST00000400345.3_Missense_Mutation_p.D15N|NEDD4L_ENST00000589054.1_Missense_Mutation_p.D15N|NEDD4L_ENST00000356462.6_Missense_Mutation_p.D15N|NEDD4L_ENST00000256832.7_5'UTR|NEDD4L_ENST00000256830.9_Missense_Mutation_p.D15N	NM_015277.5	NP_056092.2	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	15	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						ACTTTCCGAAGACGAGGTGAG	0.741													5	23					0	0	0	0	A	55711935	G	A	55711935	3	1	132	1	0	0	0	0	1	0	0	0	10381	942	33	2	45	2	NEDD4L	18	55711935	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08		55711935	22365313	59	25256											
ZNF461	92283	broad.mit.edu	37	chr19	37130912	37130912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaatatccctttttggaGataacttctggggctcatct	10	15	7	9	0	3	1	1	0	2	1	4	2	4	1	1	3	1	1	1	3	4	6			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:37130912G>T	ENST00000588268.1	-	6	562	c.335C>A	c.(334-336)tCt>tAt	p.S112Y	ZNF461_ENST00000360357.4_Missense_Mutation_p.S89Y|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCTTTTTGGAGATAACTTCTG	0.348													12	85					2.27111e-07	2.34681e-07	1	0	T	37130912	G	T	37130912	3	4	132	1	0	0	0	0	1	0	0	0	18020	942	33	2	1360	2	ZNF461	19	37130912	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08		37130912	21998071	60	25257											
SNRPA	6626	broad.mit.edu	37	chr19	41268965	41268965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcttatgccaggacagatgCcccctgcccagcctgtgagt	8	8	11	14	0	0	2	0	1	0	1	0	3	0	3	5	1	5	1	5	1	1	1			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:41268965C>T	ENST00000243563.3	+	4	1136	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	196	Pro-rich.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGGACAGATGCCCCCTGCCCA	0.607													12	42					0	0	0	0	T	41268965	C	T	41268965	3	4	132	1	0	0	0	0	1	0	0	0	14947	739	26	4	600	4	SNRPA	19	41268965	Missense_Mutation	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	4138053	41268965	17860018	61	25258											
GRIK5	2901	broad.mit.edu	37	chr19	42563637	42563637	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcactgacagcgtctccttgGagatgaggaagccacgcacc	10	7	11	13	2	2	3	1	2	1	1	3	5	2	4	3	2	2	1	3	2	1	1			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:42563637G>C	ENST00000262895.3	-	5	550	c.551C>G	c.(550-552)tCc>tGc	p.S184C	GRIK5_ENST00000301218.4_Missense_Mutation_p.S184C|GRIK5_ENST00000593562.1_Missense_Mutation_p.S184C	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	184						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CGTCTCCTTGGAGATGAGGAA	0.607													13	68					0	0	0	0	C	42563637	G	C	42563637	3	2	132	1	0	0	0	0	1	0	0	0	6827	1174	41	2	2451	2	GRIK5	19	42563637	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	1294672	42563637	16565346	62	25259											
MARK4	57787	broad.mit.edu	37	chr19	45774927	45774927	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagtcatcctgtacaccctCgtcagcggctccctgccctt	5	10	9	17	2	2	0	2	0	0	0	5	1	4	1	4	2	3	2	4	2	1	2	rs140158030		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:45774927C>T	ENST00000300843.4	+	8	1044	c.747C>T	c.(745-747)ctC>ctT	p.L249L	MARK4_ENST00000262891.4_Silent_p.L249L	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	249	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTACACCCTCGTCAGCGGCT	0.672													68	42					0	0	0	0	T	45774927	C	T	45774927	2	4	132	1	0	0	0	0	0	0	0	1	9384	871	31	1		1	MARK4	19	45774927	Silent	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	3211290	45774927	13354056	63	25260											
ZNF347	84671	broad.mit.edu	37	chr19	53643919	53643919	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgggtagttaggcttgaaCggacactaaaggctttccca	11	10	12	8	1	0	1	0	1	0	0	1	3	1	2	1	4	1	4	1	4	5	5	rs150489253	byFrequency	TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:53643919C>A	ENST00000452676.2	-	5	2591	c.2165G>T	c.(2164-2166)cGt>cTt	p.R722L	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R722L|ZNF347_ENST00000334197.7_Missense_Mutation_p.R721L	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TAGGCTTGAACGGACACTAAA	0.423													41	168					4.16155e-14	4.55322e-14	1	0	A	53643919	C	A	53643919	3	1	132	1	0	0	0	0	1	0	0	0	17956	536	19	3	361	3	ZNF347	19	53643919	Missense_Mutation	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	7868992	53643919	5485064	64	25261											
EPN1	29924	broad.mit.edu	37	chr19	56203254	56203254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggacccctggggcggcccCcctgtccctccagctgctga	3	7	12	19	2	0	1	0	1	0	0	3	2	2	2	7	4	2	2	7	4	0	0			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:56203254C>T	ENST00000411543.2	+	7	1702	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P	EPN1_ENST00000270460.6_Silent_p.P299P|EPN1_ENST00000085079.7_Silent_p.P274P	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	299	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GGGGCGGCCCCCCTGTCCCTC	0.756													9	29					0	0	0	0	T	56203254	C	T	56203254	2	4	132	1	0	0	0	0	0	0	0	1	5223	610	22	4		4	EPN1	19	56203254	Silent	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	2559335	56203254	2925729	65	25262											
AURKC	6795	broad.mit.edu	37	chr19	57743501	57743501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggaaagccatttcattGtggccctgaaggttctcttc	9	13	9	10	0	3	1	2	1	1	0	5	2	3	2	2	3	1	1	2	3	3	4			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:57743501G>A	ENST00000302804.7	+	3	391	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	AURKC_ENST00000448930.1_Missense_Mutation_p.V35M|AURKC_ENST00000415300.2_Missense_Mutation_p.V50M|AURKC_ENST00000599062.1_Missense_Mutation_p.V66M|AURKC_ENST00000598785.1_Missense_Mutation_p.V35M	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	69	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CCATTTCATTGTGGCCCTGAA	0.542													34	30					0	0	0	0	A	57743501	G	A	57743501	3	1	132	1	0	0	0	0	1	0	0	0	1228	1377	48	4	220	4	AURKC	19	57743501	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	1540247	57743501	1385482	66	25263											
SIGLEC1	6614	broad.mit.edu	37	chr20	3684688	3684688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaccagctcacctggaaGgatgttcctccccgaggggc	7	8	13	13	1	1	1	1	1	0	0	3	4	3	3	5	4	1	2	5	4	1	1			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr20:3684688G>A	ENST00000344754.4	-	4	756	c.757C>T	c.(757-759)Ctt>Ttt	p.L253F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L253F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	253	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCACCTGGAAGGATGTTCCTC	0.577													18	38					0	0	0	0	A	3684688	G	A	3684688	3	1	132	1	0	0	0	0	1	0	0	0	14393	1000	35	4	4444	4	SIGLEC1	20	3684688	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08		3684688	59340832	67	25264											
CDS2	8760	broad.mit.edu	37	chr20	5169814	5169814	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttcgcaagtggattcaaAcgagcctttaaaatcaaagt	14	12	7	8	2	3	0	2	0	1	0	4	2	3	1	1	1	2	1	1	1	5	5			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr20:5169814A>C	ENST00000460006.1	+	11	1390	c.1083A>C	c.(1081-1083)aaA>aaC	p.K361N	CDS2_ENST00000379062.4_Missense_Mutation_p.K241N|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_Missense_Mutation_p.K131N	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	361					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GTGGATTCAAACGAGCCTTTA	0.517													23	41					0	0	0	0	C	5169814	A	C	5169814	3	2	132	1	0	0	0	0	1	0	0	0	3207	40	2	5	1125	5	CDS2	20	5169814	Missense_Mutation	SNP	A	TCGA-CQ-5324-01A-01D-1683-08	1485126	5169814	57855706	68	25265											
PYGB	5834	broad.mit.edu	37	chr20	25239873	25239873	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttcttctgcttcctcagCgcatttattatctttccctg	4	20	4	13	1	5	0	1	0	4	0	7	0	7	0	2	0	2	2	2	0	2	7			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr20:25239873C>T	ENST00000216962.4	+	2	354	c.243_splice	c.e2-1	p.R82_splice		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	82					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GCTTCCTCAGCGCATTTATTA	0.478													10	27					0	0	0	0	T	25239873	C	T	25239873	5	4	132	1	0	0	0	0	0	0	1	0	12942	782	27	1	250	1	PYGB	20	25239873	Splice_Site	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	20070059	25239873	37785647	69	25266											
DNTTIP1	116092	broad.mit.edu	37	chr20	44439538	44439538	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaggcctacctcctcatCgaggaggacatccgggacct	8	7	10	16	2	2	0	2	0	0	0	5	4	4	3	6	4	1	0	6	4	1	1	rs148278422		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr20:44439538C>T	ENST00000372622.3	+	12	878	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	270						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				ACCTCCTCATCGAGGAGGACA	0.507													14	28					0	0	0	0	T	44439538	C	T	44439538	2	4	132	1	0	0	0	0	0	0	0	1	4717	874	31	1		1	DNTTIP1	20	44439538	Silent	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	19199665	44439538	18585982	70	25267											
TIAM1	7074	broad.mit.edu	37	chr21	32639127	32639127	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctgctggatcgggtgctCacttcggagttcctgtggat	4	13	15	9	2	1	0	1	0	0	0	4	3	2	3	1	4	3	4	1	4	0	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr21:32639127C>G	ENST00000286827.3	-	5	633	c.162G>C	c.(160-162)gtG>gtC	p.V54V	TIAM1_ENST00000541036.1_Silent_p.V54V|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	54					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCGGGTGCTCACTTCGGAGT	0.637													10	31					0	0	0	0	G	32639127	C	G	32639127	2	3	132	1	0	0	0	0	0	0	0	1	15984	813	29	2		2	TIAM1	21	32639127	Silent	SNP	C	TCGA-CQ-5324-01A-01D-1683-08		32639127	15490768	71	25268			1	35		2	2	22	C		5.358949e-05
TIAM1	7074	broad.mit.edu	37	chr21	32639148	32639148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcggagttcctgtggatCaccttccccgaggaagcgtg	7	10	12	12	3	1	0	1	0	0	0	4	4	3	3	4	3	1	1	4	3	1	3			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr21:32639148C>T	ENST00000286827.3	-	5	612	c.141G>A	c.(139-141)gtG>gtA	p.V47V	TIAM1_ENST00000541036.1_Silent_p.V47V|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	47					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCTGTGGATCACCTTCCCCG	0.627													7	30					0	0	0	0	T	32639148	C	T	32639148	2	4	132	1	0	0	0	0	0	0	0	1	15984	813	29	2		2	TIAM1	21	32639148	Silent	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	21	32639148	15490747	72	25269			1	35		2	2	22	C		5.358949e-05
TTC3	7267	broad.mit.edu	37	chr21	38538338	38538338	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgggcaacccaaaggggtCtcttctaattctcctaaacc	11	10	8	12	0	3	0	0	0	3	0	5	1	3	0	3	3	2	1	3	3	5	4			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr21:38538338C>G	ENST00000399017.2	+	33	6569	c.3822C>G	c.(3820-3822)gtC>gtG	p.V1274V	TTC3_ENST00000355666.1_Silent_p.V1274V|TTC3_ENST00000354749.2_Silent_p.V1274V|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1274					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCAAAGGGGTCTCTTCTAATT	0.458													30	53					0	0	0	0	G	38538338	C	G	38538338	2	3	132	1	0	0	0	0	0	0	0	1	16793	900	32	2		2	TTC3	21	38538338	Silent	SNP	C	TCGA-CQ-5324-01A-01D-1683-08	5899190	38538338	9591557	73	25270											
CCT8L2	150160	broad.mit.edu	37	chr22	17072531	17072531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacttgtccgccagtgtgaGggtctcctcgtcgacctccc	5	11	10	15	3	1	1	0	1	1	0	6	2	3	1	5	1	1	0	5	1	1	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr22:17072531G>A	ENST00000359963.3	-	1	1169	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	304					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCCAGTGTGAGGGTCTCCTCG	0.512													53	81					0	0	0	0	A	17072531	G	A	17072531	3	1	132	1	0	0	0	0	1	0	0	0	2990	1000	35	4	767	4	CCT8L2	22	17072531	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08		17072531	34232035	74	25271											
GNAZ	2781	broad.mit.edu	37	chr22	23438508	23438508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggggcagaggtcagagcGcaaaaagtggatccactgct	11	5	17	8	1	1	2	1	0	0	2	2	3	2	3	1	5	2	3	1	5	2	0			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr22:23438508G>A	ENST00000248996.4	+	2	1292	c.626G>A	c.(625-627)cGc>cAc	p.R209H	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	209						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGGTCAGAGCGCAAAAAGTGG	0.562													4	160					0	0	0	0	A	23438508	G	A	23438508	3	1	132	1	0	0	0	0	1	0	0	0	6565	1087	38	1	628	1	GNAZ	22	23438508	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	6365977	23438508	27866058	75	25272											
SEC14L4	284904	broad.mit.edu	37	chr22	30891410	30891410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtagccacaaagaccacccGagtcatacagctggatgacc	13	5	9	14	2	1	2	1	1	0	1	1	4	1	3	4	1	3	2	4	1	3	2	rs145663781	byFrequency	TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr22:30891410G>A	ENST00000392772.2	-	5	369	c.92C>T	c.(91-93)tCg>tTg	p.S31L	SEC14L4_ENST00000381982.3_Missense_Mutation_p.S85L|SEC14L4_ENST00000540456.1_Missense_Mutation_p.S70L|SEC14L4_ENST00000255858.7_Missense_Mutation_p.S85L			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	85						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AAGACCACCCGAGTCATACAG	0.582													25	44					0	0	0	0	A	30891410	G	A	30891410	3	1	132	1	0	0	0	0	1	0	0	0	14071	1059	37	1	1004	1	SEC14L4	22	30891410	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	7452902	30891410	20413156	76	25273											
CACNA1I	8911	broad.mit.edu	37	chr22	40080509	40080509	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accctcctccggcaggtaccGacacctcccaggccctagag	8	5	9	19	2	0	1	0	0	0	1	3	2	3	1	7	3	1	2	7	3	2	2			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr22:40080509G>A	ENST00000401624.1	+	36	6033	c.6033G>A	c.(6031-6033)ccG>ccA	p.P2011P	CACNA1I_ENST00000404898.1_Intron|CACNA1I_ENST00000402142.3_Intron|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000336649.4_Intron|CACNA1I_ENST00000407673.1_Silent_p.P1976P			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	0					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGCAGGTACCGACACCTCCCA	0.632													6	7					0	0	0	0	A	40080509	G	A	40080509	2	1	132	1	0	0	0	0	0	0	0	1	2571	1073	37	1		1	CACNA1I	22	40080509	Silent	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	9189099	40080509	11224057	77	25274											
FAM47B	170062	broad.mit.edu	37	chrX	34962352	34962352	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaactccgtgacttcaagtgGgctggagacctaggagttaa	12	9	12	8	1	1	2	1	1	0	1	2	4	2	3	2	3	1	2	2	3	4	3			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chrX:34962352G>A	ENST00000329357.5	+	1	1440	c.1404G>A	c.(1402-1404)tgG>tgA	p.W468*		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	468										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ACTTCAAGTGGGCTGGAGACC	0.433													4	45					0	0	0	0	A	34962352	G	A	34962352	4	1	132	1	0	0	0	0	0	1	0	0	5617	1241	43	4	1406	4	FAM47B	23	34962352	Nonsense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08		34962352	120308208	78	25275											
DGKK	139189	broad.mit.edu	37	chrX	50165595	50165596	+	RNA	INS	-	-	AC																															aaagagacattaaaaggtaaINSacacacacacacacacacac																								rs59226442		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chrX:50165595_50165596insAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAAAGGTAAacacacacaca	0.411													4	4	---	---	---	---					AC	50165596	-	AC	50165595	6	5	132	0	1	1	1	0	0	0	0	0	4509	29	1	0		0	DGKK	23	50165595	RNA	INS	-	TCGA-CQ-5324-01A-01D-1683-08	15203243	50165595	105104965	79	25276											
ELF4	2000	broad.mit.edu	37	chrX	129201147	129201147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacagtcccagggggctgaGagctgggccctgctggtcca	6	7	16	12	0	0	2	0	2	0	1	2	3	2	2	3	4	2	3	3	4	0	0			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chrX:129201147G>A	ENST00000308167.5	-	9	1920	c.1541C>T	c.(1540-1542)tCt>tTt	p.S514F	ELF4_ENST00000335997.7_Missense_Mutation_p.S514F	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	514					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGGGGGCTGAGAGCTGGGCCC	0.642			T	ERG	AML								24	10					0	0	0	0	A	129201147	G	A	129201147	3	1	132	1	0	0	0	0	1	0	0	0	5094	942	33	2	454	2	ELF4	23	129201147	Missense_Mutation	SNP	G	TCGA-CQ-5324-01A-01D-1683-08	79035552	129201147	26069413	80	25277											
FCN3	8547	broad.mit.edu	37	chr1	27697413	27697413	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaacctgctctgtaggaGgaccaagagcggaagaaatc	15	5	11	10	1	1	2	0	0	1	2	2	5	1	5	3	3	3	2	3	3	6	1			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr1:27697413G>A	ENST00000270879.4	-	6	449	c.444C>T	c.(442-444)tcC>tcT	p.S148S	FCN3_ENST00000354982.2_Silent_p.S137S	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	148	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGTAGGAGGACCAAGAGC	0.562													11	64					0	0	0	0	A	27697413	G	A	27697413	2	1	133	1	0	0	0	0	0	0	0	1	5838	987	35	4		4	FCN3	1	27697413	Silent	SNP	G	TCGA-CQ-5325-01A-01D-1683-08		27697413	221553208	1	25278											
C1orf94	84970	broad.mit.edu	37	chr1	34666421	34666421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagggtcaagggagcctctTtctcagccagtggccccaga	10	7	12	12	0	3	1	2	0	2	1	4	2	3	2	4	3	2	0	4	3	2	1			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr1:34666421T>C	ENST00000488417.1	+	3	1178	c.1058T>C	c.(1057-1059)tTt>tCt	p.F353S	C1orf94_ENST00000373374.3_Missense_Mutation_p.F163S	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	163							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGGAGCCTCTTTCTCAGCCAG	0.582													7	61					0	0	0	0	C	34666421	T	C	34666421	3	2	133	1	0	0	0	0	1	0	0	0	2091	1841	64	5	1068	5	C1orf94	1	34666421	Missense_Mutation	SNP	T	TCGA-CQ-5325-01A-01D-1683-08	6969008	34666421	214584200	2	25279											
PMVK	10654	broad.mit.edu	37	chr1	154897619	154897619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtgactaaagtctggagcGgataaattctatcaggttct	12	13	10	6	1	4	1	1	1	3	0	4	3	4	3	0	3	1	1	0	3	6	6			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr1:154897619G>A	ENST00000368467.3	-	5	870	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	189					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGTCTGGAGCGGATAAATTCT	0.567													4	172					0	0	0	0	A	154897619	G	A	154897619	3	1	133	1	0	0	0	0	1	0	0	0	12216	1116	39	1	17	1	PMVK	1	154897619	Missense_Mutation	SNP	G	TCGA-CQ-5325-01A-01D-1683-08	120231198	154897619	94353002	3	25280											
SLC26A9	115019	broad.mit.edu	37	chr1	205904863	205904863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcccactgggtatgtcCggtccttcttctcaaactca	6	14	6	15	1	4	0	2	0	3	0	9	0	7	0	3	2	1	1	3	2	2	3			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr1:205904863C>T	ENST00000367135.3	-	2	199	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000367134.2_Missense_Mutation_p.R29Q|SLC26A9_ENST00000340781.4_Missense_Mutation_p.R29Q	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	29						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGGGTATGTCCGGTCCTTCTT	0.547													14	90					0	0	0	0	T	205904863	C	T	205904863	3	4	133	1	0	0	0	0	1	0	0	0	14612	652	23	1	2665	1	SLC26A9	1	205904863	Missense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08	51007244	205904863	43345758	4	25281											
GALNT13	114805	broad.mit.edu	37	chr2	155158099	155158099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atttcttctacatcatatccCcaggtacacaattctgacat	12	14	3	12	0	4	1	1	1	3	0	5	1	5	1	2	1	2	1	2	1	4	6			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:155158099C>T	ENST00000392825.3	+	9	1720	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	GALNT13_ENST00000409237.1_Missense_Mutation_p.P385S|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	385						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CATCATATCCCCAGGTACACA	0.348													6	99					0	0	0	0	T	155158099	C	T	155158099	3	4	133	1	0	0	0	0	1	0	0	0	6260	623	22	4	1179	4	GALNT13	2	155158099	Missense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08		155158099	88041274	5	25282											
XIRP2	129446	broad.mit.edu	37	chr2	167760367	167760367	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtgtttgaggctcctaaGagtggaaacaaaccagctga	13	9	12	7	0	0	3	0	2	0	1	1	4	1	4	2	2	3	3	2	2	3	2			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:167760367G>C	ENST00000409195.1	+	2	464	c.375G>C	c.(373-375)aaG>aaC	p.K125N	XIRP2_ENST00000409043.1_Missense_Mutation_p.K125N|XIRP2_ENST00000295237.9_Missense_Mutation_p.K125N|XIRP2_ENST00000420519.1_Missense_Mutation_p.K125N|XIRP2_ENST00000409728.1_Missense_Mutation_p.K125N|XIRP2_ENST00000409756.2_Missense_Mutation_p.K125N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	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						AGGCTCCTAAGAGTGGAAACA	0.483													6	51					0	0	0	0	C	167760367	G	C	167760367	3	2	133	1	0	0	0	0	1	0	0	0	17526	933	33	2	377	2	XIRP2	2	167760367	Missense_Mutation	SNP	G	TCGA-CQ-5325-01A-01D-1683-08	12602268	167760367	75439006	6	25283											
TTN	7273	broad.mit.edu	37	chr2	179404673	179404673	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttcttggtatctttcatCaagttcataatcaggatatt	11	17	5	8	0	6	0	4	0	2	0	6	1	6	1	1	2	0	2	1	2	4	8			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:179404673C>G	ENST00000589042.1	-	352	98343	c.98119G>C	c.(98119-98121)Gat>Cat	p.D32707H	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D23767H|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D31066H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D23642H|TTN_ENST00000342992.6_Missense_Mutation_p.D30139H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D23834H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31066	Ig-like 144.						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)			TATCTTTCATCAAGTTCATAA	0.373													4	70					0	0	0	0	G	179404673	C	G	179404673	3	3	133	1	0	0	0	0	1	0	0	0	16831	826	29	2	9904	2	TTN	2	179404673	Missense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08	11644306	179404673	63794700	7	25284											
MFSD6	54842	broad.mit.edu	37	chr2	191301018	191301018	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatggctctctctatccccTtttgcctgtgtattacaaac	7	16	5	13	0	2	0	0	0	2	0	4	0	3	0	3	1	3	2	3	1	5	6			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:191301018T>C	ENST00000392328.1	+	3	587	c.263T>C	c.(262-264)cTt>cCt	p.L88P	MFSD6_ENST00000281416.7_Missense_Mutation_p.L88P	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	88					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CTCTATCCCCTTTTGCCTGTG	0.403													3	131					0	0	0	0	C	191301018	T	C	191301018	3	2	133	1	0	0	0	0	1	0	0	0	9604	1609	56	5	265	5	MFSD6	2	191301018	Missense_Mutation	SNP	T	TCGA-CQ-5325-01A-01D-1683-08	11896345	191301018	51898355	8	25285											
VIL1	7429	broad.mit.edu	37	chr2	219299377	219299377	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatttcctcaattccaaTgatgtctttgtcctcaagac	10	14	5	12	0	3	2	2	1	1	1	6	2	6	2	4	0	0	0	4	0	4	3			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:219299377T>G	ENST00000248444.5	+	14	1717	c.1629T>G	c.(1627-1629)aaT>aaG	p.N543K	VIL1_ENST00000392114.2_Missense_Mutation_p.N232K	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	543	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAATTCCAATGATGTCTTTG	0.582													14	94					0	0	0	0	G	219299377	T	G	219299377	3	3	133	1	0	0	0	0	1	0	0	0	17260	1461	51	5	1679	5	VIL1	2	219299377	Missense_Mutation	SNP	T	TCGA-CQ-5325-01A-01D-1683-08	27998359	219299377	23899996	9	25286											
GIGYF2	26058	broad.mit.edu	37	chr2	233671317	233671317	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttggcgatatcatgaaaAtgtggggaagggttcccttt	9	13	12	7	1	2	1	1	1	1	0	3	3	3	2	1	4	0	1	1	4	4	4			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:233671317A>T	ENST00000373566.3	+	16	2019	c.1822A>T	c.(1822-1824)Atg>Ttg	p.M608L	GIGYF2_ENST00000373563.4_Missense_Mutation_p.M586L|GIGYF2_ENST00000409547.1_Missense_Mutation_p.M586L|GIGYF2_ENST00000409451.3_Missense_Mutation_p.M607L|GIGYF2_ENST00000409196.3_Missense_Mutation_p.M580L|GIGYF2_ENST00000409480.1_Missense_Mutation_p.M608L|GIGYF2_ENST00000452341.2_Missense_Mutation_p.M417L			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	586	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TATCATGAAAATGTGGGGAAG	0.463													10	106					0	0	0	0	T	233671317	A	T	233671317	3	4	133	1	0	0	0	0	1	0	0	0	6429	101	4	5	1876	5	GIGYF2	2	233671317	Missense_Mutation	SNP	A	TCGA-CQ-5325-01A-01D-1683-08	14371940	233671317	9528056	10	25287											
FNDC3B	64778	broad.mit.edu	37	chr3	172062028	172062028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtatcgcttccgggtgAgggctctgaatgatggaggg	6	10	17	8	3	1	3	0	3	1	0	3	4	2	4	2	4	0	3	2	4	2	2			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr3:172062028A>G	ENST00000336824.4	+	19	2329	c.2230A>G	c.(2230-2232)Agg>Ggg	p.R744G	FNDC3B_ENST00000416957.1_Missense_Mutation_p.R744G|FNDC3B_ENST00000415807.2_Missense_Mutation_p.R744G	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	744	Fibronectin type-III 5.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTTCCGGGTGAGGGCTCTGAA	0.547													3	131					0	0	0	0	G	172062028	A	G	172062028	3	3	133	1	0	0	0	0	1	0	0	0	6015	295	11	5	2300	5	FNDC3B	3	172062028	Missense_Mutation	SNP	A	TCGA-CQ-5325-01A-01D-1683-08		172062028	25960402	11	25288											
LAMP3	27074	broad.mit.edu	37	chr3	182853620	182853620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcacgcacttgaaggaatgCccgactgctgtctggaacat	10	9	10	12	2	2	1	1	1	1	0	2	4	2	3	1	2	3	2	1	2	3	1			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr3:182853620C>T	ENST00000265598.3	-	5	1257	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	LAMP3_ENST00000466939.1_Silent_p.G310G	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	334					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGAAGGAATGCCCGACTGCTG	0.468													5	323					0	0	0	0	T	182853620	C	T	182853620	2	4	133	1	0	0	0	0	0	0	0	1	8672	726	26	4		4	LAMP3	3	182853620	Silent	SNP	C	TCGA-CQ-5325-01A-01D-1683-08	10791592	182853620	15168810	12	25289											
SLC2A9	56606	broad.mit.edu	37	chr4	9998412	9998412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctactgacctcccaaGaacctttccaatcatcttca	10	11	3	17	0	3	2	2	1	1	1	6	2	6	2	6	0	2	0	6	0	4	3			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr4:9998412G>T	ENST00000506583.1	-	5	533	c.316C>A	c.(316-318)Ctt>Att	p.L106I	SLC2A9_ENST00000264784.3_Missense_Mutation_p.L135I|SLC2A9_ENST00000309065.3_Missense_Mutation_p.L106I			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	135					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GACCTCCCAAGAACCTTTCCA	0.498													6	23					3.59834e-05	4.15193e-05	1	0	T	9998412	G	T	9998412	3	4	133	1	0	0	0	0	1	0	0	0	14640	942	33	2	1259	2	SLC2A9	4	9998412	Missense_Mutation	SNP	G	TCGA-CQ-5325-01A-01D-1683-08		9998412	181155864	13	25290											
CLOCK	9575	broad.mit.edu	37	chr4	56316289	56316289	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagacggccgtgtgagatgaTtttcttgaactccgagaaga	11	10	13	7	3	1	6	0	3	1	4	2	9	2	6	2	1	1	0	2	1	2	3			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr4:56316289T>C	ENST00000309964.4	-	15	1567	c.1317A>G	c.(1315-1317)aaA>aaG	p.K439K	CLOCK_ENST00000513440.1_Silent_p.K439K|CLOCK_ENST00000381322.1_Silent_p.K439K	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	439					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TGTGAGATGATTTTCTTGAAC	0.433													5	46					0	0	0	0	C	56316289	T	C	56316289	2	2	133	1	0	0	0	0	0	0	0	1	3579	1490	52	5		5	CLOCK	4	56316289	Silent	SNP	T	TCGA-CQ-5325-01A-01D-1683-08	46317877	56316289	134837987	14	25291											
C5orf22	55322	broad.mit.edu	37	chr5	31541084	31541084	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaatcttacaagagctgtAccaatttaagaaacctggca	17	9	6	9	0	1	2	0	0	1	2	1	2	1	2	2	1	4	3	2	1	8	4			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr5:31541084A>G	ENST00000325366.9	+	5	963	c.836A>G	c.(835-837)tAc>tGc	p.Y279C	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	279										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CAAGAGCTGTACCAATTTAAG	0.294													7	66					0	0	0	0	G	31541084	A	G	31541084	3	3	133	1	0	0	0	0	1	0	0	0	2306	391	14	5	854	5	C5orf22	5	31541084	Missense_Mutation	SNP	A	TCGA-CQ-5325-01A-01D-1683-08		31541084	149374176	15	25292											
PCDHA7	56141	broad.mit.edu	37	chr5	140215046	140215046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccctgtctctccctattCcagaggacgcccaaccaggt	7	10	7	17	1	1	1	0	0	1	1	5	2	4	2	5	2	1	0	5	2	2	3			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr5:140215046C>A	ENST00000525929.1	+	1	1078	c.1078C>A	c.(1078-1080)Cca>Aca	p.P360T	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P360T	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCCTATTCCAGAGGACGC	0.522													11	96					2.80697e-09	3.36837e-09	1	0	A	140215046	C	A	140215046	3	1	133	1	0	0	0	0	1	0	0	0	11600	855	30	2	1080	2	PCDHA7	5	140215046	Missense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08	108673962	140215046	40700214	16	25293											
PCDHGA9	56107	broad.mit.edu	37	chr5	140784899	140784899	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgagcctttgtgcgtcTctgttgattccaagtttcct	8	16	8	9	1	1	2	0	2	1	0	4	2	3	2	3	0	2	2	3	0	3	4			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr5:140784899T>C	ENST00000573521.1	+	1	2380	c.2380T>C	c.(2380-2382)Tct>Cct	p.S794P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGTGCGTCTCTGTTGATTC	0.423													4	35					0	0	0	0	C	140784899	T	C	140784899	3	2	133	1	0	0	0	0	1	0	0	0	11632	1551	54	5	2382	5	PCDHGA9	5	140784899	Missense_Mutation	SNP	T	TCGA-CQ-5325-01A-01D-1683-08	569853	140784899	40130361	17	25294											
CD2AP	23607	broad.mit.edu	37	chr6	47563699	47563699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccagtaatttactgagatCttctggaacagtgtacccaa	13	11	8	9	0	2	1	0	1	2	1	2	3	2	2	2	1	4	2	2	1	5	5			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr6:47563699C>T	ENST00000359314.5	+	12	1667	c.1211C>T	c.(1210-1212)tCt>tTt	p.S404F		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	404	Pro-rich.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTACTGAGATCTTCTGGAACA	0.418													19	156					0	0	0	0	T	47563699	C	T	47563699	3	4	133	1	0	0	0	0	1	0	0	0	3023	913	32	2	1257	2	CD2AP	6	47563699	Missense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08		47563699	123551368	18	25295											
AKAP12	9590	broad.mit.edu	37	chr6	151671792	151671792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctaccgaaggggagggcGtttccacctgggagtcattt	7	9	14	11	2	1	0	1	0	0	0	2	3	2	2	4	4	1	1	4	4	2	3			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr6:151671792G>A	ENST00000402676.2	+	4	2506	c.2266G>A	c.(2266-2268)Gtt>Att	p.V756I	AKAP12_ENST00000253332.1_Missense_Mutation_p.V756I|AKAP12_ENST00000359755.5_Missense_Mutation_p.V651I|AKAP12_ENST00000354675.6_Missense_Mutation_p.V658I	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	756	AKAP 2.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGGGAGGGCGTTTCCACCTG	0.537													13	174					0	0	0	0	A	151671792	G	A	151671792	3	1	133	1	0	0	0	0	1	0	0	0	448	1145	40	1	2305	1	AKAP12	6	151671792	Missense_Mutation	SNP	G	TCGA-CQ-5325-01A-01D-1683-08	104108093	151671792	19443275	19	25296											
DOCK4	9732	broad.mit.edu	37	chr7	111368576	111368576	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctcctccccgccgtagctCggcacgggcaccggcactgg	4	5	14	18	5	0	0	0	0	0	0	3	0	2	0	5	5	1	6	5	5	1	1			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr7:111368576C>T	ENST00000428084.1	-	53	5954	c.5682G>A	c.(5680-5682)ccG>ccA	p.P1894P	DOCK4_ENST00000494651.2_Silent_p.P768P|DOCK4_ENST00000437633.1_Silent_p.P1885P			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1885	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CGCCGTAGCTCGGCACGGGCA	0.662													6	51					0	0	0	0	T	111368576	C	T	111368576	2	4	133	1	0	0	0	0	0	0	0	1	4725	871	31	1		1	DOCK4	7	111368576	Silent	SNP	C	TCGA-CQ-5325-01A-01D-1683-08		111368576	47770087	20	25297											
CPA5	93979	broad.mit.edu	37	chr7	129986247	129986247	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaggctgggctttccaGcctctaggtgctgtgctgtc	3	14	12	12	0	2	0	1	0	2	0	5	0	3	0	2	3	3	4	2	3	1	3			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr7:129986247G>A	ENST00000485477.1	+	2	1050		c.e2-1		CPA5_ENST00000466363.2_Splice_Site|CPA5_ENST00000461828.1_5'UTR|CPA5_ENST00000431780.2_5'UTR|CPA5_ENST00000355388.3_Splice_Site|CPA5_ENST00000474905.1_5'UTR			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5						proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GGGCTTTCCAGCCTCTAGGTG	0.637													4	28					0	0	0	0	A	129986247	G	A	129986247	5	1	133	1	0	0	0	0	0	0	1	0	3823	985	34	4		4	CPA5	7	129986247	Splice_Site	SNP	G	TCGA-CQ-5325-01A-01D-1683-08	18617671	129986247	29152416	21	25298											
XRCC2	7516	broad.mit.edu	37	chr7	152346254	152346254	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagtatttgattatttCttcagagctttgggatagtc	9	16	10	6	0	2	2	1	1	1	1	3	3	2	3	0	2	1	3	0	2	3	7			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr7:152346254C>A	ENST00000359321.1	-	3	401	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	106					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TTGATTATTTCTTCAGAGCTT	0.378								Homologous recombination					10	78					3.86212e-05	4.39988e-05	1	0	A	152346254	C	A	152346254	4	1	133	1	0	0	0	0	0	1	0	0	17549	922	32	2	530	2	XRCC2	7	152346254	Nonsense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08	22360007	152346254	6792409	22	25299											
EPHX2	2053	broad.mit.edu	37	chr8	27373874	27373874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggttaccgggtcctagCtatggacatgaaaggctatg	10	9	14	8	1	0	1	0	1	0	0	1	2	1	2	2	5	2	4	2	5	5	4			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:27373874C>A	ENST00000521400.1	+	8	1299	c.869C>A	c.(868-870)gCt>gAt	p.A290D	EPHX2_ENST00000518379.1_Missense_Mutation_p.A258D|EPHX2_ENST00000517536.1_Missense_Mutation_p.A107D|EPHX2_ENST00000380476.3_Missense_Mutation_p.A237D|EPHX2_ENST00000521780.1_Missense_Mutation_p.A224D	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	290	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	CGGGTCCTAGCTATGGACATG	0.557											OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	193					1.96895e-08	2.33165e-08	1	0	A	27373874	C	A	27373874	3	1	133	1	0	0	0	0	1	0	0	0	5218	797	28	4	899	4	EPHX2	8	27373874	Missense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08		27373874	118990148	23	25300											
FUT10	84750	broad.mit.edu	37	chr8	33310867	33310867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccaccagagcataatgggGtagctgtccaattcccattt	11	10	9	11	0	0	1	0	0	0	1	2	2	2	1	4	2	2	3	4	2	3	4			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:33310867G>A	ENST00000335589.3	-	3	598	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000327671.5_Silent_p.Y81Y|FUT10_ENST00000524021.1_Silent_p.Y53Y|FUT10_ENST00000518672.1_Silent_p.Y53Y			Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	0					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GCATAATGGGGTAGCTGTCCA	0.478													3	33					0	0	0	0	A	33310867	G	A	33310867	3	1	133	1	0	0	0	0	1	0	0	0	6150	1256	44	4	1208	4	FUT10	8	33310867	Missense_Mutation	SNP	G	TCGA-CQ-5325-01A-01D-1683-08	5936993	33310867	113053155	24	25301											
ADAM2	2515	broad.mit.edu	37	chr8	39678606	39678606	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctgctttcttatgttttActtggtaaattacatgttca	9	20	5	7	0	3	0	1	0	2	0	3	0	3	0	0	1	3	4	0	1	5	8			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:39678606A>C	ENST00000265708.4	-	6	531	c.428T>G	c.(427-429)gTa>gGa	p.V143G	ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.V143G|ADAM2_ENST00000521880.1_Missense_Mutation_p.V143G|ADAM2_ENST00000347580.4_Missense_Mutation_p.V143G	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	143					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTATGTTTTACTTGGTAAAT	0.328													8	42					0	0	0	0	C	39678606	A	C	39678606	3	2	133	1	0	0	0	0	1	0	0	0	241	391	14	5	1839	5	ADAM2	8	39678606	Missense_Mutation	SNP	A	TCGA-CQ-5325-01A-01D-1683-08	6367739	39678606	106685416	25	25302											
PRKDC	5591	broad.mit.edu	37	chr8	48744440	48744440	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagcttctcctggtcccTcataaaccgtctgcgcagtc	7	11	8	15	2	3	1	1	1	2	0	6	1	4	1	3	1	3	2	3	1	2	2			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:48744440T>C	ENST00000314191.2	-	61	8253	c.8197A>G	c.(8197-8199)Agg>Ggg	p.R2733G	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R2733G	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2734	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCCTGGTCCCTCATAAACCGT	0.542								Non-homologous end-joining					3	207					0	0	0	0	C	48744440	T	C	48744440	3	2	133	1	0	0	0	0	1	0	0	0	12601	1550	54	5	4294	5	PRKDC	8	48744440	Missense_Mutation	SNP	T	TCGA-CQ-5325-01A-01D-1683-08	9065834	48744440	97619582	26	25303											
RGS20	8601	broad.mit.edu	37	chr8	54764582	54764582	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatacagacattcaccaaatCacagaaaatgaaggagacct	20	6	6	9	0	2	4	2	1	0	3	2	5	2	4	2	1	1	0	2	1	6	2			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:54764582C>T	ENST00000297313.3	+	1	215	c.123C>T	c.(121-123)atC>atT	p.I41I	RGS20_ENST00000344277.6_Silent_p.I41I	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	41					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TTCACCAAATCACAGAAAATG	0.458													13	79					0	0	0	0	T	54764582	C	T	54764582	2	4	133	1	0	0	0	0	0	0	0	1	13386	816	29	2		2	RGS20	8	54764582	Silent	SNP	C	TCGA-CQ-5325-01A-01D-1683-08	6020142	54764582	91599440	27	25304											
SULF1	23213	broad.mit.edu	37	chr8	70488393	70488393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccctcgtggcaggccatgCatgagcctcggacttttgct	5	10	11	15	2	0	1	0	1	0	0	2	2	0	2	4	3	3	3	4	3	0	2			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:70488393C>T	ENST00000260128.4	+	6	1078	c.361C>T	c.(361-363)Cat>Tat	p.H121Y	SULF1_ENST00000402687.4_Missense_Mutation_p.H121Y|SULF1_ENST00000419716.3_Missense_Mutation_p.H121Y|SULF1_ENST00000458141.2_Missense_Mutation_p.H121Y	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	121					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCAGGCCATGCATGAGCCTCG	0.498													11	55					0	0	0	0	T	70488393	C	T	70488393	3	4	133	1	0	0	0	0	1	0	0	0	15460	710	25	4	367	4	SULF1	8	70488393	Missense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08	15723811	70488393	75875629	28	25305											
ZFHX4	79776	broad.mit.edu	37	chr8	77765833	77765833	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctgatgcatcattcagtAaaaggtcttctagaacgaga	15	11	8	7	1	5	3	2	1	3	2	5	4	5	3	0	1	2	2	0	1	5	4			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:77765833A>G	ENST00000521891.2	+	10	7124	c.6676A>G	c.(6676-6678)Aaa>Gaa	p.K2226E	ZFHX4_ENST00000518282.1_Missense_Mutation_p.K2200E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K2181E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K2181E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2181						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCATTCAGTAAAAGGTCTTC	0.373										HNSCC(33;0.089)			7	51					0	0	0	0	G	77765833	A	G	77765833	3	3	133	1	0	0	0	0	1	0	0	0	17730	363	13	5	6710	5	ZFHX4	8	77765833	Missense_Mutation	SNP	A	TCGA-CQ-5325-01A-01D-1683-08	7277440	77765833	68598189	29	25306											
RRM2B	50484	broad.mit.edu	37	chr8	103237159	103237159	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctatcagcaaactgtacaTctctgagtgaacattctcga	12	12	7	10	1	4	2	1	2	3	0	6	3	4	2	0	0	4	2	0	0	4	3			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:103237159T>A	ENST00000251810.3	-	4	652	c.409A>T	c.(409-411)Atg>Ttg	p.M137L	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Missense_Mutation_p.M85L	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	137					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			AAACTGTACATCTCTGAGTGA	0.408								Modulation of nucleotide pools					8	38					0	0	0	0	A	103237159	T	A	103237159	3	1	133	1	0	0	0	0	1	0	0	0	13768	1435	50	5	670	5	RRM2B	8	103237159	Missense_Mutation	SNP	T	TCGA-CQ-5325-01A-01D-1683-08	25471326	103237159	43126863	30	25307											
TPD52L3	89882	broad.mit.edu	37	chr9	6328607	6328607	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtccatgccacatgcCaggacagagacctctgtggg	9	7	11	14	0	1	1	0	0	1	1	3	3	3	2	5	2	2	0	5	2	0	0			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:6328607C>G	ENST00000344545.5	+	1	259	c.12C>G	c.(10-12)gcC>gcG	p.A4A	TPD52L3_ENST00000314556.3_Silent_p.A4A|TPD52L3_ENST00000381428.1_Silent_p.A4A	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	4							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		TGCCACATGCCAGGACAGAGA	0.468													60	94					0	0	0	0	G	6328607	C	G	6328607	2	3	133	1	0	0	0	0	0	0	0	1	16495	581	21	4		4	TPD52L3	9	6328607	Silent	SNP	C	TCGA-CQ-5325-01A-01D-1683-08		6328607	134884824	31	25308											
PSIP1	11168	broad.mit.edu	37	chr9	15486860	15486860	+	Frame_Shift_Del	DEL	C	C	-																															ttcttcatggtcggtatcttCctttgaaacactagtttcct																										TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:15486860delC	ENST00000380733.4	-	5	701	c.358delG	c.(358-360)aafs	p.E120fs	PSIP1_ENST00000380738.4_Frame_Shift_Del_p.E120fs|PSIP1_ENST00000380716.4_Frame_Shift_Del_p.E120fs|PSIP1_ENST00000380715.1_Frame_Shift_Del_p.E120fs|PSIP1_ENST00000397519.2_Frame_Shift_Del_p.E120fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	120					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TCGGTATCTTCCTTTGAAACA	0.333													19	125	---	---	---	---					-	15486860	C	-	15486860	7	5	133	1	0	1	0	1	0	0	0	0	12742	864	30	0	1311	0	PSIP1	9	15486860	Frame_Shift_Del	DEL	C	TCGA-CQ-5325-01A-01D-1683-08	9158253	15486860	125726571	32	25309											
HSD17B3	3293	broad.mit.edu	37	chr9	98997827	98997827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccgctgtagaaggcccagGccgggatcaggctcagaaag	11	4	14	12	2	2	2	2	0	0	2	2	3	2	3	3	4	0	3	3	4	3	1			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:98997827G>T	ENST00000375263.3	-	11	895	c.848C>A	c.(847-849)gCc>gAc	p.A283D	HSD17B3_ENST00000375262.2_Missense_Mutation_p.A233D|HSD17B3_ENST00000464104.1_5'UTR	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	283					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	GAAGGCCCAGGCCGGGATCAG	0.527													6	17					8.12818e-05	9.14421e-05	1	0	T	98997827	G	T	98997827	3	4	133	1	0	0	0	0	1	0	0	0	7435	1203	42	4	88	4	HSD17B3	9	98997827	Missense_Mutation	SNP	G	TCGA-CQ-5325-01A-01D-1683-08	83510967	98997827	42215604	33	25310											
GALNT12	79695	broad.mit.edu	37	chr9	101599413	101599413	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagctctactaccatcgcAacccccgtgcccgcttggtg	8	8	9	16	3	1	1	0	0	1	1	2	1	1	1	4	1	5	3	4	1	4	3			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:101599413A>C	ENST00000375011.3	+	6	1195	c.1195A>C	c.(1195-1197)Aac>Cac	p.N399H		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	399						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CTACCATCGCAACCCCCGTGC	0.547													7	114					0	0	0	0	C	101599413	A	C	101599413	3	2	133	1	0	0	0	0	1	0	0	0	6259	130	5	5	1217	5	GALNT12	9	101599413	Missense_Mutation	SNP	A	TCGA-CQ-5325-01A-01D-1683-08	2601586	101599413	39614018	34	25311											
IDE	3416	broad.mit.edu	37	chr10	94268582	94268582	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatttgtagtatttctgaagGtcaggtatgggaaatgtcac	11	14	12	4	0	3	1	2	1	1	0	3	3	3	2	0	3	0	3	0	3	5	5			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:94268582G>C	ENST00000265986.6	-	7	1019	c.963C>G	c.(961-963)gaC>gaG	p.D321E		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	321					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTTCTGAAGGTCAGGTATGG	0.363													11	112					0	0	0	0	C	94268582	G	C	94268582	3	2	133	1	0	0	0	0	1	0	0	0	7546	1252	44	4	2172	4	IDE	10	94268582	Missense_Mutation	SNP	G	TCGA-CQ-5325-01A-01D-1683-08		94268582	41266165	35	25312											
COL17A1	1308	broad.mit.edu	37	chr10	105821185	105821185	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggaggtggaaacgccagtGttcacagccgcaggactctg	9	6	15	11	3	2	0	1	0	1	0	2	3	2	3	2	4	2	2	2	4	1	1			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:105821185G>A	ENST00000353479.5	-	13	1247	c.957C>T	c.(955-957)aaC>aaT	p.N319N	COL17A1_ENST00000393211.3_Silent_p.N319N|COL17A1_ENST00000369733.3_Silent_p.N319N	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	319	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAACGCCAGTGTTCACAGCCG	0.577													5	25					0	0	0	0	A	105821185	G	A	105821185	2	1	133	1	0	0	0	0	0	0	0	1	3704	1368	48	4		4	COL17A1	10	105821185	Silent	SNP	G	TCGA-CQ-5325-01A-01D-1683-08	11552603	105821185	29713562	36	25313											
DCLRE1A	9937	broad.mit.edu	37	chr10	115601164	115601164	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatatctcttgaatgcttaCcttaaaattaatttgcatca	14	16	3	8	0	2	1	1	1	1	0	3	1	2	1	1	0	3	2	1	0	6	6			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:115601164C>G	ENST00000361384.2	-	7	3738		c.e7+1		DCLRE1A_ENST00000369305.1_Splice_Site	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A						cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGAATGCTTACCTTAAAATTA	0.323								Other identified genes with known or suspected DNA repair function					4	48					0	0	0	0	G	115601164	C	G	115601164	5	3	133	1	0	0	0	0	0	0	1	0	4326	521	18	4	313	4	DCLRE1A	10	115601164	Splice_Site	SNP	C	TCGA-CQ-5325-01A-01D-1683-08	9779979	115601164	19933583	37	25314											
DMBT1	1755	broad.mit.edu	37	chr10	124389869	124389869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggatcattgaatagcaGtctcctgctggggaaaatct	11	12	11	7	0	3	2	1	2	2	0	4	4	3	4	1	3	2	2	1	3	4	2			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:124389869G>A	ENST00000368909.3	+	45	5607	c.5501G>A	c.(5500-5502)aGt>aAt	p.S1834N	DMBT1_ENST00000368956.2_Missense_Mutation_p.S1206N|DMBT1_ENST00000359586.6_Missense_Mutation_p.S554N|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1824N|DMBT1_ENST00000338354.3_Missense_Mutation_p.S1834N|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1206N|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1824N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1834	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGAATAGCAGTCTCCTGCTG	0.368													4	60					0	0	0	0	A	124389869	G	A	124389869	3	1	133	1	0	0	0	0	1	0	0	0	4614	1029	36	4	5679	4	DMBT1	10	124389869	Missense_Mutation	SNP	G	TCGA-CQ-5325-01A-01D-1683-08	8788705	124389869	11144878	38	25315											
CCKBR	887	broad.mit.edu	37	chr11	6290927	6290927	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggccattagaatcactctTtacgcagtgatcttcctgat	9	14	7	11	1	3	3	1	2	2	1	4	3	4	3	2	1	1	1	2	1	3	4			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:6290927T>G	ENST00000525462.1	+	2	183	c.180T>G	c.(178-180)ctT>ctG	p.L60L	CCKBR_ENST00000334619.2_Silent_p.L60L|CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000525014.1_Silent_p.L60L|CCKBR_ENST00000532715.1_Intron			P32239	GASR_HUMAN	cholecystokinin B receptor	60					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAATCACTCTTTACGCAGTGA	0.532													7	71					0	0	0	0	G	6290927	T	G	6290927	2	3	133	1	0	0	0	0	0	0	0	1	2908	1828	64	5		5	CCKBR	11	6290927	Silent	SNP	T	TCGA-CQ-5325-01A-01D-1683-08		6290927	128715589	39	25316											
DAK	26007	broad.mit.edu	37	chr11	61105464	61105464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgctgatgacgctcttGctggcctggtggcctgcaac	4	11	14	12	1	1	2	0	2	1	0	1	2	1	2	2	3	4	5	2	3	1	1			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:61105464G>A	ENST00000394900.3	+	3	284	c.55G>A	c.(55-57)Gct>Act	p.A19T	DAK_ENST00000530057.1_3'UTR	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	19	DhaK.			A -> S (in Ref. 3; BAD97300).	glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TGACGCTCTTGCTGGCCTGGT	0.622													17	95					0	0	0	0	A	61105464	G	A	61105464	3	1	133	1	0	0	0	0	1	0	0	0	4261	1319	46	4	61	4	DAK	11	61105464	Missense_Mutation	SNP	G	TCGA-CQ-5325-01A-01D-1683-08	54814537	61105464	73901052	40	25317											
CDK2AP2	10263	broad.mit.edu	37	chr11	67274859	67274859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaggcgctccatggcgCtcttgctgccagcataggta	6	11	11	13	2	3	0	1	0	2	0	4	0	4	0	2	3	3	5	2	3	2	4			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:67274859C>T	ENST00000301488.3	-	3	838	c.290G>A	c.(289-291)aGc>aAc	p.S97N	CDK2AP2_ENST00000531506.1_Missense_Mutation_p.S97N	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	97										lung(1)	1						CTCCATGGCGCTCTTGCTGCC	0.607													12	92					0	0	0	0	T	67274859	C	T	67274859	3	4	133	1	0	0	0	0	1	0	0	0	3168	797	28	4	98	4	CDK2AP2	11	67274859	Missense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08	6169395	67274859	67731657	41	25318											
ZW10	9183	broad.mit.edu	37	chr11	113609058	113609058	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaagttcctagcacttgaTaatctttccagaagttcacc	13	12	6	10	0	2	2	1	1	1	1	4	3	4	2	3	0	1	3	3	0	5	6			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:113609058T>A	ENST00000200135.3	-	13	1956	c.1812A>T	c.(1810-1812)ttA>ttT	p.L604F		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	604					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TAGCACTTGATAATCTTTCCA	0.403													11	49					0	0	0	0	A	113609058	T	A	113609058	3	1	133	1	0	0	0	0	1	0	0	0	18338	1403	49	5	543	5	ZW10	11	113609058	Missense_Mutation	SNP	T	TCGA-CQ-5325-01A-01D-1683-08	46334199	113609058	21397458	42	25319											
CDKN1B	1027	broad.mit.edu	37	chr12	12871015	12871015	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgagtggcaagaggtggagaAgggcagcttgcccgagttct	9	7	17	8	2	1	2	0	0	1	2	1	5	1	2	1	4	2	4	1	4	2	2			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:12871015A>G	ENST00000228872.4	+	1	958	c.242A>G	c.(241-243)aAg>aGg	p.K81R	CDKN1B_ENST00000396340.1_Missense_Mutation_p.K81R|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	81					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GAGGTGGAGAAGGGCAGCTTG	0.612													9	86					0	0	0	0	G	12871015	A	G	12871015	3	3	133	1	0	0	0	0	1	0	0	0	3188	72	3	5	244	5	CDKN1B	12	12871015	Missense_Mutation	SNP	A	TCGA-CQ-5325-01A-01D-1683-08		12871015	120980880	43	25320											
IFLTD1	160492	broad.mit.edu	37	chr12	25671777	25671777	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcctgggctgtctatccaAtctgcctccagcggtggatg	6	11	12	12	1	2	0	0	0	2	0	5	1	5	1	4	3	2	1	4	3	2	1			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:25671777A>G	ENST00000539744.1	-	8	1266	c.787T>C	c.(787-789)Ttg>Ctg	p.L263L	IFLTD1_ENST00000458174.2_Silent_p.L381L|IFLTD1_ENST00000413632.2_Silent_p.L341L|IFLTD1_ENST00000282881.6_Silent_p.L360L|IFLTD1_ENST00000445693.1_Silent_p.L297L	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	360						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TGTCTATCCAATCTGCCTCCA	0.517											OREG0031252	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	6	73					0	0	0	0	G	25671777	A	G	25671777	2	3	133	1	0	0	0	0	0	0	0	1	7583	98	4	5		5	IFLTD1	12	25671777	Silent	SNP	A	TCGA-CQ-5325-01A-01D-1683-08	12800762	25671777	108180118	44	25321											
CORO1C	23603	broad.mit.edu	37	chr12	109051107	109051107	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagagccagctgccgctcGctcatgcggctgaacccagt	8	6	12	15	3	1	2	1	1	0	1	2	3	1	2	3	1	5	4	3	1	1	0			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:109051107G>C	ENST00000261401.3	-	6	895	c.723C>G	c.(721-723)agC>agG	p.S241R	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Missense_Mutation_p.S241R|CORO1C_ENST00000420959.2_Missense_Mutation_p.S294R|CORO1C_ENST00000421578.2_Missense_Mutation_p.S136R|CORO1C_ENST00000549772.1_Missense_Mutation_p.S247R	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	241					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GCTGCCGCTCGCTCATGCGGC	0.562													9	60					0	0	0	0	C	109051107	G	C	109051107	3	2	133	1	0	0	0	0	1	0	0	0	3785	1078	38	3	725	3	CORO1C	12	109051107	Missense_Mutation	SNP	G	TCGA-CQ-5325-01A-01D-1683-08	83379330	109051107	24800788	45	25322											
OAS1	4938	broad.mit.edu	37	chr12	113348885	113348885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggcggctataaacctaacCcccaaatctatgtcaagctc	12	9	6	14	1	2	0	1	0	1	0	3	0	2	0	3	2	3	2	3	2	7	4			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:113348885C>T	ENST00000452357.2	+	3	689	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.P167S|OAS1_ENST00000551241.1_Missense_Mutation_p.P167S|OAS1_ENST00000202917.5_Missense_Mutation_p.P167S	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	167					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TAAACCTAACCCCCAAATCTA	0.498													3	30					0	0	0	0	T	113348885	C	T	113348885	3	4	133	1	0	0	0	0	1	0	0	0	10870	623	22	4	509	4	OAS1	12	113348885	Missense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08	4297778	113348885	20503010	46	25323											
POP5	51367	broad.mit.edu	37	chr12	121017178	121017178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcctctaataagcaGcttcttgtcacagacttctg	8	14	5	14	0	4	1	1	0	3	1	7	1	7	1	3	0	2	2	3	0	2	5			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:121017178G>T	ENST00000341039.2	-	4	301	c.285C>A	c.(283-285)agC>agA	p.S95R	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_Missense_Mutation_p.S145R	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	145					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CTAATAAGCAGCTTCTTGTCA	0.512													9	83					0.00448238	0.00480255	1	0	T	121017178	G	T	121017178	3	4	133	1	0	0	0	0	1	0	0	0	12325	962	34	4	60	4	POP5	12	121017178	Missense_Mutation	SNP	G	TCGA-CQ-5325-01A-01D-1683-08	7668293	121017178	12834717	47	25324											
PITPNM2	57605	broad.mit.edu	37	chr12	123475222	123475222	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggagggggcgccatgctcTtggaaggctgcattgtgggt	6	9	19	7	1	1	0	0	0	1	0	1	3	1	2	1	6	2	3	1	6	1	2			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:123475222T>C	ENST00000280562.5	-	17	2788	c.2583A>G	c.(2581-2583)caA>caG	p.Q861Q	PITPNM2_ENST00000542749.1_Silent_p.Q813Q|PITPNM2_ENST00000320201.4_Silent_p.Q813Q|PITPNM2_ENST00000392428.1_Silent_p.Q534Q			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	817	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGCCATGCTCTTGGAAGGCTG	0.672													3	31					0	0	0	0	C	123475222	T	C	123475222	2	2	133	1	0	0	0	0	0	0	0	1	12023	1606	56	5		5	PITPNM2	12	123475222	Silent	SNP	T	TCGA-CQ-5325-01A-01D-1683-08	2458044	123475222	10376673	48	25325											
BRCA2	675	broad.mit.edu	37	chr13	32913306	32913306	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caataatgataaaaaccttgTttctattgagactgtggtgc	13	14	8	6	0	1	2	0	2	1	1	1	3	1	2	1	1	2	1	1	1	6	6			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr13:32913306T>A	ENST00000544455.1	+	11	5041	c.4814T>A	c.(4813-4815)gTt>gAt	p.V1605D	BRCA2_ENST00000380152.3_Missense_Mutation_p.V1605D	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1605					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAACCTTGTTTCTATTGAG	0.343			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			4	75					0	0	0	0	A	32913306	T	A	32913306	3	1	133	1	0	0	0	0	1	0	0	0	1507	1725	60	5	4852	5	BRCA2	13	32913306	Missense_Mutation	SNP	T	TCGA-CQ-5325-01A-01D-1683-08		32913306	82256572	49	25326											
OR4K15	81127	broad.mit.edu	37	chr14	20443692	20443692	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacccatgctcacttcattAactgatctctgtttctctcc	9	15	3	14	0	4	1	2	1	2	0	7	1	5	1	2	0	3	2	2	0	2	3			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr14:20443692A>C	ENST00000305051.5	+	1	90	c.15A>C	c.(13-15)ttA>ttC	p.L5F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACTTCATTAACTGATCTCT	0.363													3	57					0	0	0	0	C	20443692	A	C	20443692	3	2	133	1	0	0	0	0	1	0	0	0	11141	359	13	5	17	5	OR4K15	14	20443692	Missense_Mutation	SNP	A	TCGA-CQ-5325-01A-01D-1683-08		20443692	86905848	50	25327											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20779905	20779905	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatccaaaggaaacttggagTtgttacctagggcagaaaaa	16	9	10	6	0	0	1	0	0	0	1	1	3	1	3	2	3	2	3	2	3	7	5			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr14:20779905T>C	ENST00000398169.3	-	7	1254	c.638A>G	c.(637-639)aAc>aGc	p.N213S	CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.N213S|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.N213S|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.N213S|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.N213S|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.N213S			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	213						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AAACTTGGAGTTGTTACCTAG	0.348			T	HMGA2	leiomyoma								8	51					0	0	0	0	C	20779905	T	C	20779905	3	2	133	1	0	0	0	0	1	0	0	0	2941	1725	60	5	199	5	CCNB1IP1	14	20779905	Missense_Mutation	SNP	T	TCGA-CQ-5325-01A-01D-1683-08	336213	20779905	86569635	51	25328											
SCFD1	23256	broad.mit.edu	37	chr14	31122764	31122764	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcctttacatcatacttgGacatatcaagcattggtgca	12	13	6	10	0	2	0	2	0	0	0	3	1	3	1	1	2	4	2	1	2	4	6			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr14:31122764G>A	ENST00000458591.2	+	10	1052	c.825G>A	c.(823-825)tgG>tgA	p.W275*	SCFD1_ENST00000541123.1_Nonsense_Mutation_p.W90*|SCFD1_ENST00000421551.3_Nonsense_Mutation_p.W216*|SCFD1_ENST00000544052.2_Nonsense_Mutation_p.W208*|SCFD1_ENST00000396629.2_Nonsense_Mutation_p.W183*	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	275					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATCATACTTGGACATATCAAG	0.328													5	91					0	0	0	0	A	31122764	G	A	31122764	4	1	133	1	0	0	0	0	0	1	0	0	13975	1183	41	2	863	2	SCFD1	14	31122764	Nonsense_Mutation	SNP	G	TCGA-CQ-5325-01A-01D-1683-08	10342859	31122764	76226776	52	25329											
HERPUD1	9709	broad.mit.edu	37	chr16	56973962	56973962	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctcctcaagtggttgttaAtcctggagccaatcaaaatt	11	13	8	9	0	2	0	2	0	0	0	4	1	4	1	3	2	2	3	3	2	5	3			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr16:56973962A>T	ENST00000439977.2	+	6	907	c.710A>T	c.(709-711)aAt>aTt	p.N237I	HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000379792.2_Missense_Mutation_p.N212I|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Missense_Mutation_p.N236I	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	237						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						GTGGTTGTTAATCCTGGAGCC	0.463			T	ERG	prostate								4	29					0	0	0	0	T	56973962	A	T	56973962	3	4	133	1	0	0	0	0	1	0	0	0	7113	101	4	5	732	5	HERPUD1	16	56973962	Missense_Mutation	SNP	A	TCGA-CQ-5325-01A-01D-1683-08		56973962	33380791	53	25330											
WWOX	51741	broad.mit.edu	37	chr16	78466645	78466645	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgaggcctttcaccaagtCcatggtaagagaacagcttc	11	8	11	11	1	1	1	1	0	0	1	3	3	2	1	3	3	2	2	3	3	3	3			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr16:78466645C>A	ENST00000566780.1	+	8	1418	c.1052C>A	c.(1051-1053)tCc>tAc	p.S351Y	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.S351Y|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	351	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTCACCAAGTCCATGGTAAGA	0.512													16	207					4.14922e-12	5.04635e-12	1	0	A	78466645	C	A	78466645	3	1	133	1	0	0	0	0	1	0	0	0	17510	855	30	2	1144	2	WWOX	16	78466645	Missense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08	21492683	78466645	11888108	54	25331											
ZNF276	92822	broad.mit.edu	37	chr16	89789965	89789965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctggggatgcccctcagaCctcccagggtagagggacag	8	5	14	14	0	1	2	1	0	0	2	2	4	2	4	5	4	1	1	5	4	1	1			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr16:89789965C>T	ENST00000289816.5	+	4	941	c.629C>T	c.(628-630)aCc>aTc	p.T210I	ZNF276_ENST00000446326.2_Missense_Mutation_p.P82S|ZNF276_ENST00000443381.2_Missense_Mutation_p.T285I|ZNF276_ENST00000568064.1_Missense_Mutation_p.P204S	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCCCTCAGACCTCCCAGGGT	0.677													5	48					0	0	0	0	T	89789965	C	T	89789965	3	4	133	1	0	0	0	0	1	0	0	0	17906	507	18	4	868	4	ZNF276	16	89789965	Missense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08	11323320	89789965	564788	55	25332											
COPS3	8533	broad.mit.edu	37	chr17	17150427	17150427	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtttcaagaataactggaTggtttgtttcctgaatcatc	11	16	8	6	0	2	2	2	1	0	1	4	3	3	3	1	2	1	3	1	2	5	5			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr17:17150427T>A	ENST00000539941.2	-	12	1405	c.1197A>T	c.(1195-1197)ccA>ccT	p.P399P	COPS3_ENST00000439936.2_Silent_p.P341P|COPS3_ENST00000268717.5_Silent_p.P419P	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	419					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						AATAACTGGATGGTTTGTTTC	0.438													4	116					0	0	0	0	A	17150427	T	A	17150427	2	1	133	1	0	0	0	0	0	0	0	1	3764	1451	51	5		5	COPS3	17	17150427	Silent	SNP	T	TCGA-CQ-5325-01A-01D-1683-08		17150427	64044783	56	25333											
TNS4	84951	broad.mit.edu	37	chr17	38634851	38634851	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccgttgctcagggtccaTaccacagaagcggagggtgg	8	8	14	11	2	1	1	1	0	0	1	3	2	3	2	3	4	3	2	3	4	2	3	rs147778475		TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr17:38634851T>A	ENST00000254051.6	-	11	2118	c.1960A>T	c.(1960-1962)Atg>Ttg	p.M654L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	654	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCAGGGTCCATACCACAGAAG	0.617													8	59					0	0	0	0	A	38634851	T	A	38634851	3	1	133	1	0	0	0	0	1	0	0	0	16439	1406	49	5	199	5	TNS4	17	38634851	Missense_Mutation	SNP	T	TCGA-CQ-5325-01A-01D-1683-08	21484424	38634851	42560359	57	25334											
ALPK2	115701	broad.mit.edu	37	chr18	56204982	56204982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggtatcaaaacacgttcCttggtcaccagcctcaaaac	13	10	6	12	1	3	0	3	0	0	0	4	0	4	0	3	2	3	2	3	2	6	4			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr18:56204982C>T	ENST00000361673.3	-	5	2650	c.2437G>A	c.(2437-2439)Gga>Aga	p.G813R	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	813							ATP binding|protein serine/threonine kinase activity			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						AAACACGTTCCTTGGTCACCA	0.463													7	55					0	0	0	0	T	56204982	C	T	56204982	3	4	133	1	0	0	0	0	1	0	0	0	545	690	24	4	4111	4	ALPK2	18	56204982	Missense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08		56204982	21872266	58	25335											
PLD3	23646	broad.mit.edu	37	chr19	40872532	40872532	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctgaaggtgcctgcaGaggagcccgccaatgagctg	9	5	14	13	1	0	3	0	2	0	1	0	4	0	4	4	2	5	3	4	2	2	0			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr19:40872532G>T	ENST00000409587.1	+	4	440	c.43G>T	c.(43-45)Gag>Tag	p.E15*	PLD3_ENST00000409735.4_Nonsense_Mutation_p.E15*|PLD3_ENST00000409419.1_Nonsense_Mutation_p.E15*|PLD3_ENST00000409281.1_Nonsense_Mutation_p.E15*|PLD3_ENST00000356508.5_Nonsense_Mutation_p.E15*			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	15					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGTGCCTGCAGAGGAGCCCGC	0.632													5	81					2.0095e-06	2.34876e-06	1	0	T	40872532	G	T	40872532	4	4	133	1	0	0	0	0	0	1	0	0	12119	943	33	2	49	2	PLD3	19	40872532	Nonsense_Mutation	SNP	G	TCGA-CQ-5325-01A-01D-1683-08		40872532	18256451	59	25336											
KIR3DL1	3811	broad.mit.edu	37	chr19	55341406	55341406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgtaatggaccaagagCctgcagggaacagaacagcc	13	5	12	11	0	0	2	0	0	0	2	0	4	0	4	3	2	6	3	3	2	4	1			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr19:55341406C>T	ENST00000391728.4	+	8	1162	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P360S|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P377S|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P282S|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P360S	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGACCAAGAGCCTGCAGGGAA	0.532													14	112					0	0	0	0	T	55341406	C	T	55341406	3	4	133	1	0	0	0	0	1	0	0	0	8372	739	26	4	1159	4	KIR3DL1	19	55341406	Missense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08	14468874	55341406	3787577	60	25337											
CSNK2A1	1457	broad.mit.edu	37	chr20	470519	470519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacatatccaaactataatCgtacatctgcataaaagtaa	18	10	3	10	1	1	0	0	0	1	0	3	0	2	0	2	0	3	3	2	0	8	6			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr20:470519C>T	ENST00000217244.3	-	10	1003	c.628G>A	c.(628-630)Gat>Aat	p.D210N	CSNK2A1_ENST00000400217.1_Missense_Mutation_p.D74N|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D210N|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D210N|CSNK2A1_ENST00000460062.1_5'UTR	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	210	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			AAACTATAATCGTACATCTGC	0.318													3	47					0	0	0	0	T	470519	C	T	470519	3	4	133	1	0	0	0	0	1	0	0	0	3989	884	31	1	567	1	CSNK2A1	20	470519	Missense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08		470519	62555001	61	25338											
FAM65C	140876	broad.mit.edu	37	chr20	49204362	49204362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgacagtgtggtttcccggGctgccgcccgcacggcctcc	4	7	13	17	5	0	0	0	0	0	0	2	1	2	0	5	3	1	3	5	3	0	1			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr20:49204362G>T	ENST00000327979.2	-	21	3128	c.2717C>A	c.(2716-2718)gCc>gAc	p.A906D	FAM65C_ENST00000045083.2_Missense_Mutation_p.A906D|FAM65C_ENST00000535356.1_Missense_Mutation_p.A910D|FAM65C_ENST00000462842.1_5'UTR			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	906										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTTTCCCGGGCTGCCGCCCG	0.592											OREG0026030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	57					0.000157383	0.00017487	1	0	T	49204362	G	T	49204362	3	4	133	1	0	0	0	0	1	0	0	0	5647	1203	42	4	131	4	FAM65C	20	49204362	Missense_Mutation	SNP	G	TCGA-CQ-5325-01A-01D-1683-08	48733843	49204362	13821158	62	25339											
CARD10	29775	broad.mit.edu	37	chr22	37914082	37914082	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaggcctcatagcccctcTtgccacggcagcgcaagatg	9	6	12	14	2	2	1	1	0	1	1	2	2	2	2	4	3	3	2	4	3	3	2			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr22:37914082T>A	ENST00000403299.1	-	3	485	c.269A>T	c.(268-270)aAg>aTg	p.K90M	CARD10_ENST00000251973.5_Missense_Mutation_p.K90M			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	90	CARD.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					ATAGCCCCTCTTGCCACGGCA	0.627													6	49					0	0	0	0	A	37914082	T	A	37914082	3	1	133	1	0	0	0	0	1	0	0	0	2669	1609	56	5	2905	5	CARD10	22	37914082	Missense_Mutation	SNP	T	TCGA-CQ-5325-01A-01D-1683-08		37914082	13390484	63	25340											
DMD	1756	broad.mit.edu	37	chrX	31947847	31947847	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattccctggcgcaggggcaActcttccaccagtaactgaa	11	8	9	13	1	1	1	0	1	1	0	3	1	3	1	3	3	2	3	3	3	4	3			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chrX:31947847A>G	ENST00000357033.4	-	47	6984	c.6778T>C	c.(6778-6780)Ttg>Ctg	p.L2260L	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Silent_p.L2256L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2260					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGCAGGGGCAACTCTTCCACC	0.403													11	29					0	0	0	0	G	31947847	A	G	31947847	2	3	133	1	0	0	0	0	0	0	0	1	4617	40	2	5		5	DMD	23	31947847	Silent	SNP	A	TCGA-CQ-5325-01A-01D-1683-08		31947847	123322713	64	25341											
MAGEE1	57692	broad.mit.edu	37	chrX	75648934	75648934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccgtgctgcctacacCtggtgagggaccaggcacct	7	7	11	16	1	0	1	0	1	0	0	1	2	1	2	6	3	3	2	6	3	1	1			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chrX:75648934C>T	ENST00000361470.2	+	1	889	c.611C>T	c.(610-612)cCt>cTt	p.P204L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	204	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGCCTACACCTGGTGAGGGA	0.687													4	13					0	0	0	0	T	75648934	C	T	75648934	3	4	133	1	0	0	0	0	1	0	0	0	9254	681	24	4	613	4	MAGEE1	23	75648934	Missense_Mutation	SNP	C	TCGA-CQ-5325-01A-01D-1683-08	43701087	75648934	79621626	65	25342											
PABPC5	140886	broad.mit.edu	37	chrX	90691201	90691201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgttaaaaacattggagacGacatagatgacgaaaaactg	18	8	9	6	3	0	3	0	1	0	2	1	6	0	3	0	1	2	1	0	1	6	3			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chrX:90691201G>A	ENST00000312600.3	+	2	839	c.625G>A	c.(625-627)Gac>Aac	p.D209N	PABPC5_ENST00000373105.1_Missense_Mutation_p.D45N	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	209	RRM 3.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CATTGGAGACGACATAGATGA	0.428													5	21					0	0	0	0	A	90691201	G	A	90691201	3	1	133	1	0	0	0	0	1	0	0	0	11438	1058	37	1	627	1	PABPC5	23	90691201	Missense_Mutation	SNP	G	TCGA-CQ-5325-01A-01D-1683-08	15042267	90691201	64579359	66	25343											
PRKCZ	5590	broad.mit.edu	37	chr1	2077510	2077510	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccagtagacgacaagaaCgaggacgccgaccttccttc	11	6	9	15	4	0	2	0	0	0	2	3	6	2	3	5	1	1	1	5	1	3	3	rs150712752		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:2077510C>T	ENST00000400921.2	+	4	731	c.48C>T	c.(46-48)aaC>aaT	p.N16N	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.N16N	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	199	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		ACGACAAGAACGAGGACGCCG	0.577													24	51					0	0	0	0	T	2077510	C	T	2077510	2	4	134	1	0	0	0	0	0	0	0	1	12597	535	19	1		1	PRKCZ	1	2077510	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08		2077510	247173111	1	25344											
MMEL1	79258	broad.mit.edu	37	chr1	2523445	2523445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctggtccttgccaccctCtgccatccacttgaggtagg	5	11	10	15	0	1	1	0	1	1	0	3	1	3	1	5	3	3	2	5	3	1	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:2523445C>G	ENST00000288709.6	-	22	2302	c.2062G>C	c.(2062-2064)Gag>Cag	p.E688Q	MMEL1_ENST00000502556.1_Missense_Mutation_p.E540Q|MMEL1_ENST00000378412.3_Missense_Mutation_p.E697Q	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	697					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTGCCACCCTCTGCCATCCAC	0.627													28	48					0	0	0	0	G	2523445	C	G	2523445	3	3	134	1	0	0	0	0	1	0	0	0	9715	922	32	2	262	2	MMEL1	1	2523445	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	445935	2523445	246727176	2	25345											
PRDM16	63976	broad.mit.edu	37	chr1	3334404	3334404	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacagatgtcagccataGagaccatgacagagaagctg	14	6	11	10	0	1	4	1	1	0	3	1	6	1	4	3	0	3	1	3	0	3	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:3334404G>T	ENST00000378398.3	+	12	2786	c.2704G>T	c.(2704-2706)Gag>Tag	p.E902*	PRDM16_ENST00000378391.2_Nonsense_Mutation_p.E902*|PRDM16_ENST00000442529.2_Nonsense_Mutation_p.E901*|PRDM16_ENST00000441472.2_Nonsense_Mutation_p.E901*|PRDM16_ENST00000514189.1_Nonsense_Mutation_p.E902*|PRDM16_ENST00000511072.1_Nonsense_Mutation_p.E903*|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Nonsense_Mutation_p.E902*			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	902	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTCAGCCATAGAGACCATGAC	0.592			T	EVI1	"MDS, AML"								59	226					1.1362e-29	1.26154e-29	1	0	T	3334404	G	T	3334404	4	4	134	1	0	0	0	0	0	1	0	0	12537	943	33	2	2746	2	PRDM16	1	3334404	Nonsense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	810959	3334404	245916217	3	25346											
PLEKHG5	57449	broad.mit.edu	37	chr1	6528529	6528529	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagatgaggcagtggtgctGagagaggtctcatcagactg	10	8	16	7	0	2	5	2	2	1	3	3	6	2	5	0	3	1	3	0	3	0	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:6528529G>C	ENST00000377748.1	-	21	3095	c.2598C>G	c.(2596-2598)ctC>ctG	p.L866L	PLEKHG5_ENST00000377725.1_Silent_p.L789L|PLEKHG5_ENST00000400915.3_Silent_p.L845L|PLEKHG5_ENST00000537245.1_Silent_p.L868L|PLEKHG5_ENST00000340850.5_Silent_p.L789L|PLEKHG5_ENST00000544978.1_Silent_p.L789L|PLEKHG5_ENST00000400913.1_Silent_p.L789L|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000377732.1_Silent_p.L826L|PLEKHG5_ENST00000535355.1_Silent_p.L858L|PLEKHG5_ENST00000377737.2_Silent_p.L789L|PLEKHG5_ENST00000377728.3_Silent_p.L789L	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	845					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CAGTGGTGCTGAGAGAGGTCT	0.652													12	39					0	0	0	0	C	6528529	G	C	6528529	2	2	134	1	0	0	0	0	0	0	0	1	12145	1277	45	2		2	PLEKHG5	1	6528529	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	3194125	6528529	242722092	4	25347											
KIF1B	23095	broad.mit.edu	37	chr1	10434488	10434488	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggaaaaaacgaatttctCaatcttgttccagatattga	15	12	7	7	1	2	2	1	1	2	1	4	4	3	3	1	1	1	2	1	1	6	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:10434488C>T	ENST00000377086.1	+	46	5263	c.5061C>T	c.(5059-5061)ctC>ctT	p.L1687L	KIF1B_ENST00000263934.6_Silent_p.L1641L|KIF1B_ENST00000377081.1_Silent_p.L1687L			O60333	KIF1B_HUMAN	kinesin family member 1B	1687					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACGAATTTCTCAATCTTGTTC	0.433													60	106					0	0	0	0	T	10434488	C	T	10434488	2	4	134	1	0	0	0	0	0	0	0	1	8335	813	29	2		2	KIF1B	1	10434488	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	3905959	10434488	238816133	5	25348											
NBPF1	55672	broad.mit.edu	37	chr1	16893673	16893673	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcatagaaaggtactcaCcatccatgtcaagagcccag	13	8	7	13	0	3	2	3	0	0	2	4	2	4	2	4	1	2	1	4	1	4	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:16893673C>A	ENST00000430580.2	-	25	3727		c.e25+1		NBPF1_ENST00000432949.1_Splice_Site|NBPF1_ENST00000420031.2_Splice_Site	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAGGTACTCACCATCCATGTC	0.468													31	1531					1.9806e-07	2.09473e-07	1	0	A	16893673	C	A	16893673	5	1	134	1	0	0	0	0	0	0	1	0	10262	521	18	4	604	4	NBPF1	1	16893673	Splice_Site	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	6459185	16893673	232356948	6	25349											
MAN1C1	57134	broad.mit.edu	37	chr1	25944444	25944444	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctctcgcctcaagcgcctCttcctggccccccggaccca	4	8	7	22	3	3	0	1	0	2	0	6	1	5	1	8	2	1	0	8	2	1	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:25944444C>G	ENST00000374332.4	+	1	486	c.156C>G	c.(154-156)ctC>ctG	p.L52L	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	52					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TCAAGCGCCTCTTCCTGGCCC	0.697													7	51					0	0	0	0	G	25944444	C	G	25944444	2	3	134	1	0	0	0	0	0	0	0	1	9282	900	32	2		2	MAN1C1	1	25944444	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	9050771	25944444	223306177	7	25350											
MAN1C1	57134	broad.mit.edu	37	chr1	25944475	25944475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccggacccagcagcctggtCtggaagtggtggctgaaatc	8	7	14	12	1	1	1	0	1	1	0	2	3	1	3	3	5	2	2	3	5	2	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:25944475C>G	ENST00000374332.4	+	1	517	c.187C>G	c.(187-189)Ctg>Gtg	p.L63V	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	63					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GCAGCCTGGTCTGGAAGTGGT	0.746													4	38					0	0	0	0	G	25944475	C	G	25944475	3	3	134	1	0	0	0	0	1	0	0	0	9282	912	32	2	189	2	MAN1C1	1	25944475	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	31	25944475	223306146	8	25351											
BAI2	576	broad.mit.edu	37	chr1	32210289	32210289	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggctcatctgcagacctCggccactgggttttcacttt	6	12	9	14	1	3	1	2	0	1	1	4	1	3	1	3	3	1	3	3	3	0	3	rs138537223	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:32210289C>T	ENST00000373658.3	-	5	1223	c.882G>A	c.(880-882)ccG>ccA	p.P294P	BAI2_ENST00000527361.1_Silent_p.P294P|BAI2_ENST00000373655.2_Silent_p.P294P|BAI2_ENST00000440175.2_5'UTR|BAI2_ENST00000398538.1_Silent_p.P282P|BAI2_ENST00000398542.1_Silent_p.P282P|BAI2_ENST00000398547.1_Silent_p.P282P|BAI2_ENST00000257070.4_Silent_p.P294P|BAI2_ENST00000398556.3_Silent_p.P297P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	294					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGCAGACCTCGGCCACTGGG	0.627													11	36					0	0	0	0	T	32210289	C	T	32210289	2	4	134	1	0	0	0	0	0	0	0	1	1303	871	31	1		1	BAI2	1	32210289	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	6265814	32210289	217040332	9	25352											
YARS	8565	broad.mit.edu	37	chr1	33252028	33252028	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtttccaccccatttctCatctcgtaggatcacaaact	9	15	4	13	1	3	0	2	0	2	0	6	1	4	1	3	1	1	2	3	1	2	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:33252028C>G	ENST00000373477.4	-	8	1749	c.841G>C	c.(841-843)Gag>Cag	p.E281Q		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	281					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CCCCATTTCTCATCTCGTAGG	0.428													13	39					0	0	0	0	G	33252028	C	G	33252028	3	3	134	1	0	0	0	0	1	0	0	0	17563	835	29	2	769	2	YARS	1	33252028	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	1041739	33252028	215998593	10	25353											
MACF1	23499	broad.mit.edu	37	chr1	39753030	39753030	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtaccggaagggtcatttCacttcacttgaattggttcc	8	14	9	10	1	3	1	3	1	0	0	4	2	4	2	2	3	1	2	2	3	3	6			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:39753030C>T	ENST00000564288.1	+	15	2358	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	MACF1_ENST00000545844.1_Silent_p.F532F|MACF1_ENST00000567887.1_Silent_p.F564F|MACF1_ENST00000317713.7_Silent_p.F532F|MACF1_ENST00000539005.1_Silent_p.F532F|MACF1_ENST00000372915.3_Silent_p.F532F|MACF1_ENST00000361689.2_Silent_p.F532F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	532					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGTCATTTCACTTCACTTG	0.463													45	148					0	0	0	0	T	39753030	C	T	39753030	2	4	134	1	0	0	0	0	0	0	0	1	9209	825	29	2		2	MACF1	1	39753030	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	6501002	39753030	209497591	11	25354											
MACF1	23499	broad.mit.edu	37	chr1	39753073	39753073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctactttaaccaccactCatctgaaagcagaaccctta	13	10	3	15	0	3	2	1	1	2	1	3	2	3	2	4	0	4	1	4	0	5	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:39753073C>G	ENST00000564288.1	+	15	2401	c.1624C>G	c.(1624-1626)Cat>Gat	p.H542D	MACF1_ENST00000545844.1_Missense_Mutation_p.H547D|MACF1_ENST00000567887.1_Missense_Mutation_p.H579D|MACF1_ENST00000317713.7_Missense_Mutation_p.H547D|MACF1_ENST00000539005.1_Missense_Mutation_p.H547D|MACF1_ENST00000372915.3_Missense_Mutation_p.H547D|MACF1_ENST00000361689.2_Missense_Mutation_p.H547D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	547					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACCACCACTCATCTGAAAGC	0.498													59	205					0	0	0	0	G	39753073	C	G	39753073	3	3	134	1	0	0	0	0	1	0	0	0	9209	826	29	2	1693	2	MACF1	1	39753073	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	43	39753073	209497548	12	25355											
MYSM1	114803	broad.mit.edu	37	chr1	59148058	59148058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgatgtctacttcttcatCatcagataacttttcaattt	10	19	4	8	0	6	2	4	1	2	1	6	2	6	2	0	0	2	0	0	0	3	7			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:59148058C>T	ENST00000472487.1	-	8	697	c.658G>A	c.(658-660)Gat>Aat	p.D220N	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	220					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ACTTCTTCATCATCAGATAAC	0.388													26	132					0	0	0	0	T	59148058	C	T	59148058	3	4	134	1	0	0	0	0	1	0	0	0	10171	826	29	2	1880	2	MYSM1	1	59148058	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	19394985	59148058	190102563	13	25356											
LRRC7	57554	broad.mit.edu	37	chr1	70505456	70505456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagctgcttagacatataGaagctagacggttagacagg	15	8	11	7	1	0	4	0	0	0	4	0	4	0	4	0	2	4	4	0	2	7	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:70505456G>C	ENST00000310961.5	+	22	4268	c.3850G>C	c.(3850-3852)Gaa>Caa	p.E1284Q	LRRC7_ENST00000415775.2_Missense_Mutation_p.E563Q|LRRC7_ENST00000035383.5_Missense_Mutation_p.E1279Q			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1279						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAGACATATAGAAGCTAGACG	0.438													26	127					0	0	0	0	C	70505456	G	C	70505456	3	2	134	1	0	0	0	0	1	0	0	0	9084	943	33	2	3909	2	LRRC7	1	70505456	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	11357398	70505456	178745165	14	25357											
DNAJB4	11080	broad.mit.edu	37	chr1	78470899	78470899	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaaatttcatccggacaaGaacaaatctcctcaggcaga	15	8	6	12	1	4	2	3	0	1	2	6	3	5	3	2	2	1	1	2	2	4	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:78470899G>C	ENST00000370763.5	+	1	362	c.105G>C	c.(103-105)aaG>aaC	p.K35N	DNAJB4_ENST00000487931.1_Intron|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	35	J.				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						ATCCGGACAAGAACAAATCTC	0.373													3	118					0	0	0	0	C	78470899	G	C	78470899	3	2	134	1	0	0	0	0	1	0	0	0	4658	933	33	2	107	2	DNAJB4	1	78470899	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	7965443	78470899	170779722	15	25358											
ELTD1	64123	broad.mit.edu	37	chr1	79387472	79387472	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctatacctatctgtgacCtgaaaaaaagatactttact	14	13	4	10	0	1	3	0	2	1	1	2	3	2	3	3	0	3	0	3	0	8	6			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:79387472C>A	ENST00000370742.3	-	9	1147		c.e9-1			NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1						neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATCTGTGACCTGAAAAAAAG	0.353													7	34					1.26484e-09	1.35148e-09	1	0	A	79387472	C	A	79387472	5	1	134	1	0	0	0	0	0	0	1	0	5122	695	24	4	1017	4	ELTD1	1	79387472	Splice_Site	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	916573	79387472	169863149	16	25359											
PTBP2	58155	broad.mit.edu	37	chr1	97235416	97235416	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaccaacatccttatgctGaaaggaaaaaatcaggtaca	17	8	8	8	0	1	2	1	2	0	0	2	3	2	3	2	2	3	2	2	2	7	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:97235416G>C	ENST00000236228.6	+	4	355	c.273G>C	c.(271-273)ctG>ctC	p.L91L	PTBP2_ENST00000541987.1_Silent_p.L60L|PTBP2_ENST00000370198.1_Silent_p.L91L|PTBP2_ENST00000370197.1_Silent_p.L91L|PTBP2_ENST00000394184.3_Silent_p.L102L|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000426398.2_Silent_p.L91L	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	91	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TCCTTATGCTGAAAGGAAAAA	0.368													31	81					0	0	0	0	C	97235416	G	C	97235416	2	2	134	1	0	0	0	0	0	0	0	1	12805	1277	45	2		2	PTBP2	1	97235416	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	17847944	97235416	152015205	17	25360											
SPRR2B	6701	broad.mit.edu	37	chr1	153043109	153043109	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagctgttacttgctcttCggtggatactttggctggca	6	15	12	8	1	1	1	0	1	1	0	2	2	1	2	0	4	4	5	0	4	3	5	rs143849195	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:153043109C>T	ENST00000341611.2	-	2	269	c.207G>A	c.(205-207)ccG>ccA	p.P69P	SPRR2B_ENST00000368755.2_Silent_p.P69P|SPRR2B_ENST00000368752.4_Silent_p.P69P	NM_001017418.1	NP_001017418.1	P35325	SPR2B_HUMAN	small proline-rich protein 2B	69					keratinization	cornified envelope|cytoplasm				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTGCTCTTCGGTGGATACT	0.532													60	176					0	0	0	0	T	153043109	C	T	153043109	2	4	134	1	0	0	0	0	0	0	0	1	15188	871	31	1		1	SPRR2B	1	153043109	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	55807693	153043109	96207512	18	25361											
RUSC1	23623	broad.mit.edu	37	chr1	155292131	155292131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgccctgaccacctgccaGgacgtcccttccccaggctt	7	7	8	19	2	0	1	0	1	0	0	2	2	2	2	7	2	2	1	7	2	1	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:155292131G>T	ENST00000368352.5	+	2	718	c.567G>T	c.(565-567)caG>caT	p.Q189H	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.Q189H|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	189						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCACCTGCCAGGACGTCCCTT	0.607													29	69					1.75199e-13	1.89142e-13	1	0	T	155292131	G	T	155292131	3	4	134	1	0	0	0	0	1	0	0	0	13835	991	35	4	569	4	RUSC1	1	155292131	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	2249022	155292131	93958490	19	25362											
FAM78B	149297	broad.mit.edu	37	chr1	166039589	166039589	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttaggggggatgggttccatCcggctcaggatccggggctg	5	9	18	9	2	1	0	1	0	0	0	4	2	4	2	3	8	0	3	3	8	1	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:166039589C>T	ENST00000338353.3	-	3	1264	c.675G>A	c.(673-675)cgG>cgA	p.R225R	FAM78B_ENST00000354422.3_Silent_p.R225R			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	225										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TGGGTTCCATCCGGCTCAGGA	0.627													20	95					0	0	0	0	T	166039589	C	T	166039589	2	4	134	1	0	0	0	0	0	0	0	1	5673	842	30	2		2	FAM78B	1	166039589	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	10747458	166039589	83211032	20	25363											
LGR6	59352	broad.mit.edu	37	chr1	202287946	202287946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccacttccgggatgaccttCggcggcttcggccccgcgca	4	7	12	18	6	0	1	0	1	0	0	3	2	1	2	5	4	0	2	5	4	0	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:202287946C>T	ENST00000367278.3	+	18	2604	c.2515C>T	c.(2515-2517)Cgg>Tgg	p.R839W	LGR6_ENST00000439764.2_Missense_Mutation_p.R700W|LGR6_ENST00000255432.7_Missense_Mutation_p.R787W	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	839						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGATGACCTTCGGCGGCTTCG	0.667													34	118					0	0	0	0	T	202287946	C	T	202287946	3	4	134	1	0	0	0	0	1	0	0	0	8812	875	31	1	2732	1	LGR6	1	202287946	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	36248357	202287946	46962675	21	25364											
OBSCN	84033	broad.mit.edu	37	chr1	228432096	228432096	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaggtggcccaggcccAgacggaggtgacgtggtaca	8	6	17	10	2	0	3	0	2	0	1	0	4	0	4	2	6	1	1	2	6	1	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:228432096A>G	ENST00000570156.2	+	12	3655	c.3581A>G	c.(3580-3582)cAg>cGg	p.Q1194R	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q1102R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.Q1102R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	138	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCAGGCCCAGACGGAGGTG	0.597													9	87					0	0	0	0	G	228432096	A	G	228432096	3	3	134	1	0	0	0	0	1	0	0	0	10883	188	7	5	3343	5	OBSCN	1	228432096	Missense_Mutation	SNP	A	TCGA-CQ-5326-01A-01D-1870-08	26144150	228432096	20818525	22	25365											
TRIM58	25893	broad.mit.edu	37	chr1	248028108	248028108	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgaggcggctggaggcGgaggagcgagcgacgctgca	8	3	20	10	5	0	1	0	1	0	0	0	6	0	4	0	6	4	4	0	6	0	0	rs147052726		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:248028108G>A	ENST00000366481.3	+	3	666	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	206						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTGGAGGCGGAGGAGCGAG	0.622													21	40					0	0	0	0	A	248028108	G	A	248028108	2	1	134	1	0	0	0	0	0	0	0	1	16626	1103	39	1		1	TRIM58	1	248028108	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	19596012	248028108	1222513	23	25366											
AGBL5	60509	broad.mit.edu	37	chr2	27278818	27278818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaagcctggaaacaaacaGagccagcagaacagaagctc	17	3	10	11	0	0	4	0	1	0	3	1	5	0	5	2	1	7	2	2	1	5	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:27278818G>A	ENST00000360131.4	+	7	1336	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	AGBL5_ENST00000323064.8_Missense_Mutation_p.E393K	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	393					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAACAAACAGAGCCAGCAGA	0.522													27	118					0	0	0	0	A	27278818	G	A	27278818	3	1	134	1	0	0	0	0	1	0	0	0	378	943	33	2	1199	2	AGBL5	2	27278818	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08		27278818	215920555	24	25367											
PPM1G	5496	broad.mit.edu	37	chr2	27609064	27609064	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtaagcagacagaccttCtgtagcttgccttccttgta	8	13	10	10	0	1	2	0	0	1	2	2	2	2	2	3	1	3	5	3	1	3	7			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:27609064C>T	ENST00000344034.4	-	3	537	c.273G>A	c.(271-273)caG>caA	p.Q91Q	PPM1G_ENST00000350803.4_Silent_p.Q91Q	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	91					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GACAGACCTTCTGTAGCTTGC	0.473													65	232					0	0	0	0	T	27609064	C	T	27609064	2	4	134	1	0	0	0	0	0	0	0	1	12416	912	32	2		2	PPM1G	2	27609064	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	330246	27609064	215590309	25	25368											
IFT172	26160	broad.mit.edu	37	chr2	27680753	27680753	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggagatctggatggtgCttccctaccaggcggatcat	8	10	13	10	1	2	2	1	1	1	1	3	5	3	4	2	5	2	1	2	5	1	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:27680753C>T	ENST00000260570.3	-	28	3169	c.3066G>A	c.(3064-3066)aaG>aaA	p.K1022K		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1022					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTGGATGGTGCTTCCCTACCA	0.522													22	58					0	0	0	0	T	27680753	C	T	27680753	2	4	134	1	0	0	0	0	0	0	0	1	7610	796	28	4		4	IFT172	2	27680753	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	71689	27680753	215518620	26	25369											
PSME4	23198	broad.mit.edu	37	chr2	54112830	54112830	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcagcaaaaccttaccttGaaaaacaaaggtagaagctg	17	9	7	8	0	1	2	1	1	0	1	1	2	1	2	2	1	5	3	2	1	8	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:54112830G>A	ENST00000404125.1	-	41	4867	c.4812C>T	c.(4810-4812)ttC>ttT	p.F1604F	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Silent_p.F748F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1604					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACCTTACCTTGAAAAACAAAG	0.363													9	34					0	0	0	0	A	54112830	G	A	54112830	2	1	134	1	0	0	0	0	0	0	0	1	12788	1281	45	2		2	PSME4	2	54112830	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	26432077	54112830	189086543	27	25370											
ACTR2	10097	broad.mit.edu	37	chr2	65492283	65492283	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctttacttagaacgagttTtgaagggtgatgtggaaaaa	14	12	12	3	1	0	3	0	2	0	1	0	5	0	4	0	2	3	2	0	2	6	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:65492283T>C	ENST00000260641.5	+	8	1145	c.988T>C	c.(988-990)Ttg>Ctg	p.L330L	ACTR2_ENST00000542850.1_Silent_p.L275L|ACTR2_ENST00000377982.4_Silent_p.L335L	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	330					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						AGAACGAGTTTTGAAGGGTGA	0.368													43	122					0	0	0	0	C	65492283	T	C	65492283	2	2	134	1	0	0	0	0	0	0	0	1	211	1838	64	5		5	ACTR2	2	65492283	Silent	SNP	T	TCGA-CQ-5326-01A-01D-1870-08	11379453	65492283	177707090	28	25371											
ARHGAP25	9938	broad.mit.edu	37	chr2	69002483	69002483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatcgtgaagaactggcaGcagaggtactttgtgctgag	10	10	13	8	1	0	4	0	2	0	2	2	4	1	4	1	2	4	4	1	2	3	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:69002483G>A	ENST00000295381.3	+	2	611	c.192G>A	c.(190-192)caG>caA	p.Q64Q	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409220.1_Silent_p.Q57Q|ARHGAP25_ENST00000409030.3_Silent_p.Q57Q|ARHGAP25_ENST00000497079.1_Silent_p.Q57Q|ARHGAP25_ENST00000409202.3_Silent_p.Q64Q|ARHGAP25_ENST00000467265.1_Silent_p.Q64Q|ARHGAP25_ENST00000544262.1_Silent_p.Q38Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	64	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGAACTGGCAGCAGAGGTACT	0.567													4	226					0	0	0	0	A	69002483	G	A	69002483	2	1	134	1	0	0	0	0	0	0	0	1	876	962	34	4		4	ARHGAP25	2	69002483	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	3510200	69002483	174196890	29	25372											
ATP6V1B1	525	broad.mit.edu	37	chr2	71186202	71186202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggggccagtggtcatggCggaggactttctggatatca	9	9	15	8	1	3	0	2	0	1	0	3	3	3	3	1	7	0	0	1	7	2	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:71186202C>T	ENST00000234396.4	+	5	495	c.422C>T	c.(421-423)gCg>gTg	p.A141V	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.A141V	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	141					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GTGGTCATGGCGGAGGACTTT	0.582													5	55					0	0	0	0	T	71186202	C	T	71186202	3	4	134	1	0	0	0	0	1	0	0	0	1182	768	27	1	440	1	ATP6V1B1	2	71186202	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	2183719	71186202	172013171	30	25373											
MRPL53	116540	broad.mit.edu	37	chr2	74699368	74699368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgccgcgcataatcaggcGatgcccgtctcctggggaag	8	6	14	13	5	2	0	1	0	1	0	3	2	2	1	3	3	2	1	3	3	2	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:74699368G>A	ENST00000258105.7	-	3	878	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	MRPL53_ENST00000409710.1_Missense_Mutation_p.S35L	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	73						mitochondrion|ribosome				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						ATAATCAGGCGATGCCCGTCT	0.682													11	36					0	0	0	0	A	74699368	G	A	74699368	3	1	134	1	0	0	0	0	1	0	0	0	9887	1058	37	1	125	1	MRPL53	2	74699368	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	3513166	74699368	168500005	31	25374											
MYO7B	4648	broad.mit.edu	37	chr2	128384562	128384562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctcaggccccatacactCagaagcaagtcacaccactg	12	5	6	18	0	3	1	3	0	0	1	3	1	3	1	5	1	2	1	5	1	3	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:128384562C>G	ENST00000389524.4	+	31	4203	c.4150C>G	c.(4150-4152)Cag>Gag	p.Q1384E	MYO7B_ENST00000428314.1_Missense_Mutation_p.Q1384E|MYO7B_ENST00000409816.2_Missense_Mutation_p.Q1384E|MYO7B_ENST00000409090.1_Missense_Mutation_p.Q237E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1384	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCCATACACTCAGAAGCAAGT	0.597													6	15					0	0	0	0	G	128384562	C	G	128384562	3	3	134	1	0	0	0	0	1	0	0	0	10153	827	29	2	4268	2	MYO7B	2	128384562	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	53685194	128384562	114814811	32	25375											
TANC1	85461	broad.mit.edu	37	chr2	160019983	160019983	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcccaaagcagaatcctCagctggagatggtccagtcc	10	7	11	13	0	1	2	1	0	0	2	4	3	4	2	4	2	3	3	4	2	2	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:160019983C>G	ENST00000263635.6	+	8	1109	c.872C>G	c.(871-873)tCa>tGa	p.S291*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.S185*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	291						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCAGAATCCTCAGCTGGAGAT	0.572													19	51					0	0	0	0	G	160019983	C	G	160019983	4	3	134	1	0	0	0	0	0	1	0	0	15635	838	29	2	894	2	TANC1	2	160019983	Nonsense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	31635421	160019983	83179390	33	25376											
PPIG	9360	broad.mit.edu	37	chr2	170493609	170493609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagagaagaacaccaccagGaagatcaagaagtaaagata	22	3	10	6	0	1	6	1	0	0	6	1	8	1	7	2	1	1	1	2	1	8	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170493609G>A	ENST00000260970.3	+	14	2061	c.1841G>A	c.(1840-1842)gGa>gAa	p.G614E	PPIG_ENST00000448752.2_Missense_Mutation_p.G614E|PPIG_ENST00000409714.3_Missense_Mutation_p.G599E	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	614	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ACACCACCAGGAAGATCAAGA	0.463													6	30					0	0	0	0	A	170493609	G	A	170493609	3	1	134	1	0	0	0	0	1	0	0	0	12400	1174	41	2	1887	2	PPIG	2	170493609	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	10473626	170493609	72705764	34	25377											
PPIG	9360	broad.mit.edu	37	chr2	170493718	170493718	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagaaaccaagagagtaaGagctcacacagaaaagaaaa	23	3	8	7	0	1	5	1	0	0	5	1	6	1	5	1	0	3	2	1	0	8	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170493718G>C	ENST00000260970.3	+	14	2170	c.1950G>C	c.(1948-1950)aaG>aaC	p.K650N	PPIG_ENST00000448752.2_Missense_Mutation_p.K650N|PPIG_ENST00000409714.3_Missense_Mutation_p.K635N	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	650					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAGAGAGTAAGAGCTCACACA	0.388													10	63					0	0	0	0	C	170493718	G	C	170493718	3	2	134	1	0	0	0	0	1	0	0	0	12400	933	33	2	1996	2	PPIG	2	170493718	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	109	170493718	72705655	35	25378											
KLHL23	151230	broad.mit.edu	37	chr2	170592202	170592202	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tataatctactgagctatatCaacattgatatagatccagt	15	14	5	7	0	2	3	1	2	1	1	3	3	3	3	1	0	3	1	1	0	8	8			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170592202C>G	ENST00000392647.2	+	2	922	c.678C>G	c.(676-678)atC>atG	p.I226M	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.I226M	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	226	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TGAGCTATATCAACATTGATA	0.388													9	38					0	0	0	0	G	170592202	C	G	170592202	3	3	134	1	0	0	0	0	1	0	0	0	8430	816	29	2	680	2	KLHL23	2	170592202	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	98484	170592202	72607171	36	25379											
UBR3	130507	broad.mit.edu	37	chr2	170897435	170897435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaggttccaattctttatCatgatgtaacatcccttttg	9	17	6	9	0	2	2	1	2	1	0	4	2	4	2	2	1	1	2	2	1	3	7			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170897435C>T	ENST00000272793.5	+	32	4650	c.4600C>T	c.(4600-4602)Cat>Tat	p.H1534Y	UBR3_ENST00000418381.1_Missense_Mutation_p.H1534Y|UBR3_ENST00000392631.1_Missense_Mutation_p.H355Y			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1534					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AATTCTTTATCATGATGTAAC	0.328													22	46					0	0	0	0	T	170897435	C	T	170897435	3	4	134	1	0	0	0	0	1	0	0	0	16999	826	29	2	4726	2	UBR3	2	170897435	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	305233	170897435	72301938	37	25380											
TTN	7273	broad.mit.edu	37	chr2	179412921	179412921	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaagcaggtagccagtgatCcggctgcctccatcgtggtc	7	9	12	13	2	1	1	1	1	0	0	5	1	3	1	4	3	3	3	4	3	2	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:179412921C>T	ENST00000589042.1	-	339	93656	c.93432G>A	c.(93430-93432)cgG>cgA	p.R31144R	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.R22079R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.R22204R|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.R22271R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.R28576R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.R29503R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29503	Ig-like 139.						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)			AGCCAGTGATCCGGCTGCCTC	0.493													75	201					0	0	0	0	T	179412921	C	T	179412921	2	4	134	1	0	0	0	0	0	0	0	1	16831	842	30	2		2	TTN	2	179412921	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	8515486	179412921	63786452	38	25381											
TTN	7273	broad.mit.edu	37	chr2	179599162	179599166	+	Frame_Shift_Del	DEL	ACAAG	ACAAG	-																															acgaaaagatctccagacacAcaagagacttctgagaaaac																										TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:179599162_179599166delACAAG	ENST00000589042.1	-	52	15609_15613	c.15385_15389delCTTGT	c.(15385-15390)gfs	p.LV5129fs	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.LV4812fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.LV3885fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4812							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)			CTCCAGACACACAAGAGACTTCTGA	0.395													33	234	---	---	---	---					-	179599166	ACAAG	-	179599162	7	5	134	1	0	1	0	1	0	0	0	0	16831	159	6	0	89384	0	TTN	2	179599162	Frame_Shift_Del	DEL	ACAAG	TCGA-CQ-5326-01A-01D-1870-08	186241	179599162	63600211	39	25382											
ITGA4	3676	broad.mit.edu	37	chr2	182322416	182322416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcgcgaacccggcccccGaagggccgccgtccgggaga	7	1	17	16	7	0	1	0	0	0	1	1	5	1	1	6	4	1	0	6	4	2	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:182322416G>A	ENST00000397033.2	+	1	465	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	ITGA4_ENST00000339307.4_Missense_Mutation_p.R12Q	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	12					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCCGGCCCCCGAAGGGCCGCC	0.662													7	17					0	0	0	0	A	182322416	G	A	182322416	3	1	134	1	0	0	0	0	1	0	0	0	7931	1058	37	1	37	1	ITGA4	2	182322416	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	2723254	182322416	60876957	40	25383											
GLS	2744	broad.mit.edu	37	chr2	191745874	191745874	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggtcgcccgccggcgtgAgcgcgactctgcggcgggca	3	5	18	15	9	1	1	0	1	1	0	2	2	1	1	2	4	3	1	2	4	0	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:191745874A>C	ENST00000320717.3	+	1	322	c.64A>C	c.(64-66)Agc>Cgc	p.S22R	AC005540.3_ENST00000413911.1_RNA|GLS_ENST00000338435.4_Missense_Mutation_p.S22R	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	22					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGCCGGCGTGAGCGCGACTCT	0.786													3	9					0	0	0	0	C	191745874	A	C	191745874	3	2	134	1	0	0	0	0	1	0	0	0	6514	304	11	5	66	5	GLS	2	191745874	Missense_Mutation	SNP	A	TCGA-CQ-5326-01A-01D-1870-08	9423458	191745874	51453499	41	25384											
STAT1	6772	broad.mit.edu	37	chr2	191845388	191845388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagaccatcggggctggcGttaggacctaaacaaataaa	15	7	11	8	2	0	1	0	1	0	1	1	3	0	2	2	4	1	2	2	4	6	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:191845388G>A	ENST00000361099.3	-	19	1977	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N	STAT1_ENST00000409465.1_Silent_p.N530N|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Silent_p.N530N|STAT1_ENST00000392323.2_Silent_p.N532N	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	530					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CGGGGCTGGCGTTAGGACCTA	0.433													15	43					0	0	0	0	A	191845388	G	A	191845388	2	1	134	1	0	0	0	0	0	0	0	1	15354	1136	40	1		1	STAT1	2	191845388	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	99514	191845388	51353985	42	25385											
DNAH7	56171	broad.mit.edu	37	chr2	196801362	196801362	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatagtatctcaagaagtTcatcattggacaaaaaaaag	19	9	7	6	0	3	2	3	0	1	2	4	3	3	3	0	1	0	2	0	1	8	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:196801362T>C	ENST00000312428.6	-	20	3333	c.3233A>G	c.(3232-3234)gAa>gGa	p.E1078G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1078	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCAAGAAGTTCATCATTGGA	0.299													20	92					0	0	0	0	C	196801362	T	C	196801362	3	2	134	1	0	0	0	0	1	0	0	0	4642	1783	62	5	9025	5	DNAH7	2	196801362	Missense_Mutation	SNP	T	TCGA-CQ-5326-01A-01D-1870-08	4955974	196801362	46398011	43	25386											
NIF3L1	60491	broad.mit.edu	37	chr2	201757020	201757020	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtgatccgggctctggaGaacagagtcggtatctactc	8	10	13	10	2	2	3	0	1	2	2	5	4	3	3	1	4	2	2	1	4	3	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:201757020G>A	ENST00000409020.1	+	2	648	c.354G>A	c.(352-354)gaG>gaA	p.E118E	NIF3L1_ENST00000409588.1_Silent_p.E118E|NIF3L1_ENST00000416651.1_Silent_p.E118E|NIF3L1_ENST00000409357.1_Silent_p.E118E|NIF3L1_ENST00000359683.4_Silent_p.E91E			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	118					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						GGGCTCTGGAGAACAGAGTCG	0.547													22	88					0	0	0	0	A	201757020	G	A	201757020	2	1	134	1	0	0	0	0	0	0	0	1	10486	933	33	2		2	NIF3L1	2	201757020	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	4955658	201757020	41442353	44	25387											
LANCL1	10314	broad.mit.edu	37	chr2	211319997	211319997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taactgtaggtaggcagggtCcccaaatacatcataaagat	15	9	9	8	0	1	1	1	0	0	1	2	1	2	1	2	3	2	3	2	3	7	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:211319997C>T	ENST00000443314.1	-	3	583	c.241G>A	c.(241-243)Gac>Aac	p.D81N	AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000450366.2_Missense_Mutation_p.D81N|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000431941.2_Missense_Mutation_p.D81N|LANCL1_ENST00000441020.3_Missense_Mutation_p.D81N|LANCL1_ENST00000233714.4_Missense_Mutation_p.D81N			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	81						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TAGGCAGGGTCCCCAAATACA	0.403													18	47					0	0	0	0	T	211319997	C	T	211319997	3	4	134	1	0	0	0	0	1	0	0	0	8673	855	30	2	986	2	LANCL1	2	211319997	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	9562977	211319997	31879376	45	25388											
PTPRN	5798	broad.mit.edu	37	chr2	220167381	220167381	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgggggcagcagcaggtgctCcaagagaggcgggagcagct	9	4	19	9	1	0	1	0	0	0	1	1	3	1	2	1	5	5	6	1	5	1	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:220167381C>G	ENST00000295718.2	-	5	796	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.E186Q|PTPRN_ENST00000423636.2_Missense_Mutation_p.E96Q	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	186					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGCAGGTGCTCCAAGAGAGGC	0.627													11	41					0	0	0	0	G	220167381	C	G	220167381	3	3	134	1	0	0	0	0	1	0	0	0	12889	864	30	2	2459	2	PTPRN	2	220167381	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	8847384	220167381	23031992	46	25389											
NT5DC2	64943	broad.mit.edu	37	chr3	52561343	52561343	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcccttttccaagcgggtGatccggtcccactgaagtga	7	11	11	12	2	0	3	0	3	0	0	3	3	3	3	4	2	2	0	4	2	2	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:52561343G>C	ENST00000307076.4	-	10	1375	c.975C>G	c.(973-975)atC>atG	p.I325M	NT5DC2_ENST00000422318.2_Missense_Mutation_p.I362M|NT5DC2_ENST00000307092.4_Missense_Mutation_p.I266M|NT5DC2_ENST00000459839.1_Missense_Mutation_p.I337M	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	325							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CCAAGCGGGTGATCCGGTCCC	0.612													25	37					0	0	0	0	C	52561343	G	C	52561343	3	2	134	1	0	0	0	0	1	0	0	0	10762	1280	45	2	607	2	NT5DC2	3	52561343	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08		52561343	145461087	47	25390											
PBRM1	55193	broad.mit.edu	37	chr3	52675991	52675991	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaaagcagcatcttcttCactttctgagccatattgaa	12	13	6	10	0	4	2	1	2	3	0	4	2	4	2	1	0	4	3	1	0	4	6			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:52675991C>A	ENST00000356770.4	-	9	972	c.970G>T	c.(970-972)Gaa>Taa	p.E324*	PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E356*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E356*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E356*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.E356*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E356*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E356*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E356*			Q86U86	PB1_HUMAN	polybromo 1	356					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCATCTTCTTCACTTTCTGAG	0.368			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								78	177					1.02218e-41	1.139e-41	1	0	A	52675991	C	A	52675991	4	1	134	1	0	0	0	0	0	1	0	0	11562	835	29	2	3918	2	PBRM1	3	52675991	Nonsense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	114648	52675991	145346439	48	25391											
TMEM45A	55076	broad.mit.edu	37	chr3	100277257	100277257	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccccatcagcctttatcTtctacaaccacactcatggc	9	13	3	16	0	4	0	2	0	2	0	5	0	5	0	4	1	3	0	4	1	3	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:100277257T>G	ENST00000403410.1	+	6	1080	c.460T>G	c.(460-462)Ttc>Gtc	p.F154V	TMEM45A_ENST00000323523.4_Missense_Mutation_p.F138V			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	138						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						AGCCTTTATCTTCTACAACCA	0.478													36	98					0	0	0	0	G	100277257	T	G	100277257	3	3	134	1	0	0	0	0	1	0	0	0	16263	1609	56	5	422	5	TMEM45A	3	100277257	Missense_Mutation	SNP	T	TCGA-CQ-5326-01A-01D-1870-08	47601266	100277257	97745173	49	25392											
KIAA2018	205717	broad.mit.edu	37	chr3	113377167	113377168	+	Frame_Shift_Ins	INS	-	-	A																															tacaaaggtacagctgtcacINSatgtattagttgttgcattg																										TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:113377167_113377168insA	ENST00000316407.4	-	7	3771_3772	c.3361_3362insT	c.(3361-3363)tgafs	p.*1121fs	KIAA2018_ENST00000478658.1_Frame_Shift_Ins_p.*1121fs|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1121					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ACAGCTGTCACATGTATTAGTT	0.455													41	163	---	---	---	---					A	113377168	-	A	113377167	7	5	134	1	0	1	1	0	0	0	0	0	8319	478	17	0	3379	0	KIAA2018	3	113377167	Frame_Shift_Ins	INS	-	TCGA-CQ-5326-01A-01D-1870-08	13099910	113377167	84645263	50	25393											
SLC15A2	6565	broad.mit.edu	37	chr3	121641670	121641670	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctggagacattccaaagCgacagcactggctagactgg	11	8	12	10	1	1	2	0	0	1	2	2	4	2	2	1	3	2	3	1	3	2	3	rs145317059	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:121641670C>T	ENST00000489711.1	+	9	1217	c.829C>T	c.(829-831)Cga>Tga	p.R277*	SLC15A2_ENST00000295605.2_Nonsense_Mutation_p.R246*	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	277					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)	CATTCCAAAGCGACAGCACTG	0.428													21	36					0	0	0	0	T	121641670	C	T	121641670	4	4	134	1	0	0	0	0	0	1	0	0	14487	760	27	1	863	1	SLC15A2	3	121641670	Nonsense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	8264503	121641670	76380760	51	25394											
ACPP	55	broad.mit.edu	37	chr3	132086633	132086633	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccacattcgccgtggactCtgctggcagagagaatccta	10	9	10	12	2	1	2	0	0	1	2	4	4	3	3	3	2	1	2	3	2	2	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:132086633C>G	ENST00000351273.7	+	11	1274	c.1224C>G	c.(1222-1224)ctC>ctG	p.L408L		NM_001134194.1	NP_001127666.1	P15309	PPAP_HUMAN	acid phosphatase, prostate	0						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GCCGTGGACTCTGCTGGCAGA	0.483													7	323					0	0	0	0	G	132086633	C	G	132086633	2	3	134	1	0	0	0	0	0	0	0	1	167	900	32	2		2	ACPP	3	132086633	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	10444963	132086633	65935797	52	25395											
PPP2R3A	5523	broad.mit.edu	37	chr3	135720782	135720782	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagggaaggaaagttaagTctgactcatttaataggagg	16	9	13	3	0	2	1	1	1	1	0	2	5	2	4	0	4	0	1	0	4	6	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:135720782T>C	ENST00000264977.3	+	2	1059	c.442T>C	c.(442-444)Tct>Cct	p.S148P	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	148					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAAGTTAAGTCTGACTCATT	0.403													30	66					0	0	0	0	C	135720782	T	C	135720782	3	2	134	1	0	0	0	0	1	0	0	0	12464	1667	58	5	444	5	PPP2R3A	3	135720782	Missense_Mutation	SNP	T	TCGA-CQ-5326-01A-01D-1870-08	3634149	135720782	62301648	53	25396											
ZIC1	7545	broad.mit.edu	37	chr3	147128485	147128485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcgccgcagctgcacGgctacgggcccatgaacgtg	7	6	14	14	5	0	1	0	1	0	0	0	1	0	1	2	2	6	5	2	2	2	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:147128485G>A	ENST00000282928.4	+	1	1315	c.586G>A	c.(586-588)Ggc>Agc	p.G196S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	196					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCAGCTGCACGGCTACGGGCC	0.652													14	44					0	0	0	0	A	147128485	G	A	147128485	3	1	134	1	0	0	0	0	1	0	0	0	17773	1116	39	1	588	1	ZIC1	3	147128485	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	11407703	147128485	50893945	54	25397											
KLHL6	89857	broad.mit.edu	37	chr3	183209891	183209891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttctcgtcccgcccgcCggtgatgtagagccggttgt	3	12	13	13	5	2	2	0	1	2	1	4	2	3	2	4	2	1	3	4	2	1	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:183209891C>T	ENST00000341319.3	-	7	1725	c.1690G>A	c.(1690-1692)Ggc>Agc	p.G564S		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	564										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCCCGCCCGCCGGTGATGTAG	0.672													30	78					0	0	0	0	T	183209891	C	T	183209891	3	4	134	1	0	0	0	0	1	0	0	0	8445	652	23	1	179	1	KLHL6	3	183209891	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	36081406	183209891	14812539	55	25398											
EHHADH	1962	broad.mit.edu	37	chr3	184910588	184910588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagaccttgcccctttctaGatttccagcccacatccaac	10	11	4	16	0	1	2	0	0	1	2	3	2	3	2	6	0	3	0	6	0	3	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:184910588G>A	ENST00000231887.3	-	7	1673	c.1598C>T	c.(1597-1599)tCt>tTt	p.S533F	EHHADH_ENST00000456310.1_Missense_Mutation_p.S437F	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	533	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CCCCTTTCTAGATTTCCAGCC	0.483													23	63					0	0	0	0	A	184910588	G	A	184910588	3	1	134	1	0	0	0	0	1	0	0	0	5018	942	33	2	577	2	EHHADH	3	184910588	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	1700697	184910588	13111842	56	25399											
HTT	3064	broad.mit.edu	37	chr4	3219628	3219628	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctaaggaacatcatcatCagcctggcccgcctgcccct	8	9	8	16	1	3	0	3	0	0	0	3	1	3	1	5	2	4	1	5	2	2	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:3219628C>T	ENST00000355072.5	+	52	7336	c.7191C>T	c.(7189-7191)atC>atT	p.I2397I		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2397					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACATCATCATCAGCCTGGCCC	0.567													20	54					0	0	0	0	T	3219628	C	T	3219628	2	4	134	1	0	0	0	0	0	0	0	1	7510	816	29	2		2	HTT	4	3219628	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08		3219628	187934648	57	25400											
CCDC158	339965	broad.mit.edu	37	chr4	77283442	77283442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggcctcaagctcccggatCtttgcatcttttttatcttt	5	18	6	12	1	4	0	1	0	3	0	5	1	5	1	2	2	2	2	2	2	2	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:77283442C>G	ENST00000388914.3	-	12	2009	c.1857G>C	c.(1855-1857)aaG>aaC	p.K619N		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	619										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTCCCGGATCTTTGCATCTT	0.393													30	143					0	0	0	0	G	77283442	C	G	77283442	3	3	134	1	0	0	0	0	1	0	0	0	2816	912	32	2	1536	2	CCDC158	4	77283442	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	74063814	77283442	113870834	58	25401											
NKX6-1	4825	broad.mit.edu	37	chr4	85414577	85414577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcttattgtagtcgtcGtcctcttcctcgttctccga	5	15	9	12	4	2	1	0	0	2	1	8	2	4	1	3	1	0	3	3	1	2	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:85414577G>A	ENST00000295886.4	-	3	1190	c.969C>T	c.(967-969)gaC>gaT	p.D323D	NKX6-1_ENST00000515820.2_Silent_p.D49D	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	323	Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TGTAGTCGTCGTCCTCTTCCT	0.612													29	80					0	0	0	0	A	85414577	G	A	85414577	2	1	134	1	0	0	0	0	0	0	0	1	10527	1136	40	1		1	NKX6-1	4	85414577	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	8131135	85414577	105739699	59	25402											
PDE5A	8654	broad.mit.edu	37	chr4	120481508	120481508	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actccatgtgaaacacactaGaaaaagaatcctaaaaacag	21	6	5	9	0	0	3	0	1	0	2	2	3	2	3	2	0	2	0	2	0	8	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:120481508G>C	ENST00000354960.3	-	7	1461	c.1142C>G	c.(1141-1143)tCt>tGt	p.S381C	PDE5A_ENST00000264805.5_Missense_Mutation_p.S339C|PDE5A_ENST00000394439.1_Missense_Mutation_p.S329C	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	381	GAF 2.			S -> F (in Ref. 9; AAP31235).	platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAACACACTAGAAAAAGAATC	0.323													7	42					0	0	0	0	C	120481508	G	C	120481508	3	2	134	1	0	0	0	0	1	0	0	0	11715	942	33	2	1545	2	PDE5A	4	120481508	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	35066931	120481508	70672768	60	25403											
CDH18	1016	broad.mit.edu	37	chr5	19571716	19571716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgttagtactgtcaggatCttgtgccaaaactgtaccaa	11	12	9	9	0	2	0	1	0	1	0	2	1	2	1	2	1	4	4	2	1	6	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:19571716C>G	ENST00000507958.1	-	10	2215	c.1225G>C	c.(1225-1227)Gat>Cat	p.D409H	CDH18_ENST00000506372.1_Missense_Mutation_p.D409H|CDH18_ENST00000382275.1_Missense_Mutation_p.D409H|CDH18_ENST00000511273.1_Missense_Mutation_p.D409H|CDH18_ENST00000274170.4_Missense_Mutation_p.D409H|CDH18_ENST00000502796.1_Missense_Mutation_p.D409H			Q13634	CAD18_HUMAN	cadherin 18, type 2	409	Cadherin 4.				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)					CTGTCAGGATCTTGTGCCAAA	0.393													23	69					0	0	0	0	G	19571716	C	G	19571716	3	3	134	1	0	0	0	0	1	0	0	0	3132	913	32	2	1171	2	CDH18	5	19571716	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08		19571716	161343544	61	25404											
C9	735	broad.mit.edu	37	chr5	39341263	39341263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacccatagcctgctgttCgtgccagctcagactcttct	7	11	7	16	1	3	1	1	0	2	1	4	1	3	1	3	0	4	3	3	0	1	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:39341263C>T	ENST00000263408.4	-	4	556	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	154	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCCTGCTGTTCGTGCCAGCTC	0.458													40	90					0	0	0	0	T	39341263	C	T	39341263	3	4	134	1	0	0	0	0	1	0	0	0	2468	884	31	1	1250	1	C9	5	39341263	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	19769547	39341263	141573997	62	25405											
C6	729	broad.mit.edu	37	chr5	41158799	41158799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gataaatccattttctggagGaactggctgaggacacccgg	11	9	12	9	1	1	1	0	1	1	0	2	5	2	4	2	5	1	1	2	5	3	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:41158799G>A	ENST00000263413.3	-	13	2209	c.1945C>T	c.(1945-1947)Cct>Tct	p.P649S	C6_ENST00000337836.5_Missense_Mutation_p.P649S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	649	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTTCTGGAGGAACTGGCTGA	0.398													10	64					0	0	0	0	A	41158799	G	A	41158799	3	1	134	1	0	0	0	0	1	0	0	0	2336	1174	41	2	883	2	C6	5	41158799	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	1817536	41158799	139756461	63	25406											
IL6ST	3572	broad.mit.edu	37	chr5	55253084	55253084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttgagtatgggatggatCtattttataccagaaacttg	11	14	10	6	0	1	2	0	1	1	1	1	4	1	4	2	2	2	1	2	2	5	7			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:55253084C>G	ENST00000381298.2	-	9	1321	c.1009G>C	c.(1009-1011)Gat>Cat	p.D337H	IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.D337H|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000522633.2_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.D337H|IL6ST_ENST00000381287.4_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.D337H	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	337	Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGGATGGATCTATTTTATAC	0.279			O		hepatocellular ca								13	112					0	0	0	0	G	55253084	C	G	55253084	3	3	134	1	0	0	0	0	1	0	0	0	7756	913	32	2	1783	2	IL6ST	5	55253084	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	14094285	55253084	125662176	64	25407											
RASGRF2	5924	broad.mit.edu	37	chr5	80408598	80408598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctttctgcacacctatCgtattttcactactgccgct	8	14	4	15	2	2	0	1	0	1	0	3	0	2	0	3	0	3	3	3	0	3	6			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:80408598C>A	ENST00000265080.4	+	14	2075	c.2008C>A	c.(2008-2010)Cgt>Agt	p.R670S		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	670	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.R670C(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCACACCTATCGTATTTTCAC	0.507													4	200					0.000602214	0.000620102	1	0	A	80408598	C	A	80408598	3	1	134	1	0	0	0	0	1	0	0	0	13155	884	31	3	2062	3	RASGRF2	5	80408598	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	25155514	80408598	100506662	65	25408											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764430	140764430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacggtcagcctcctctgtCagccaccgtcacactcaccg	7	7	7	20	3	5	0	4	0	1	0	6	0	6	0	6	1	2	0	6	1	0	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:140764430C>T	ENST00000518325.1	+	1	1964	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTCTGTCAGCCACCGTC	0.652													12	29					0	0	0	0	T	140764430	C	T	140764430	3	4	134	1	0	0	0	0	1	0	0	0	11630	838	29	2	1966	2	PCDHGA7	5	140764430	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	60355832	140764430	40150830	66	25409											
FAT2	2196	broad.mit.edu	37	chr5	150947251	150947251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgagctttgtggtggtgatCaacccagttcgagcattaag	10	12	12	7	1	1	2	1	2	0	0	2	3	1	2	1	2	3	3	1	2	2	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:150947251C>G	ENST00000261800.5	-	1	1254	c.1242G>C	c.(1240-1242)ttG>ttC	p.L414F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	414	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTGGTGATCAACCCAGTTC	0.512													20	106					0	0	0	0	G	150947251	C	G	150947251	3	3	134	1	0	0	0	0	1	0	0	0	5735	825	29	2	11899	2	FAT2	5	150947251	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	10182821	150947251	29968009	67	25410											
CPEB4	80315	broad.mit.edu	37	chr5	173359491	173359491	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccaggatccgatagctctCtgcttattaatggtaagtga	11	13	9	8	1	1	1	0	1	1	0	4	3	3	2	2	2	2	3	2	2	4	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:173359491C>T	ENST00000265085.5	+	3	2700	c.1246C>T	c.(1246-1248)Ctg>Ttg	p.L416L	CPEB4_ENST00000522336.1_Silent_p.L34L|CPEB4_ENST00000520867.1_Intron|CPEB4_ENST00000517880.1_Intron|CPEB4_ENST00000519835.1_Intron|CPEB4_ENST00000519467.1_Intron|CPEB4_ENST00000334035.5_Intron	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	416							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGATAGCTCTCTGCTTATTAA	0.353													20	63					0	0	0	0	T	173359491	C	T	173359491	2	4	134	1	0	0	0	0	0	0	0	1	3833	912	32	2		2	CPEB4	5	173359491	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	22412240	173359491	7555769	68	25411											
SQSTM1	8878	broad.mit.edu	37	chr5	179260066	179260066	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcgatgtggagcacggaggGaaaagaagccgcctgacccc	12	4	14	11	3	0	2	0	1	0	1	1	6	0	5	4	3	2	1	4	3	3	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:179260066G>A	ENST00000389805.4	+	6	967	c.789G>A	c.(787-789)ggG>ggA	p.G263G	SQSTM1_ENST00000402874.3_Silent_p.G179G|SQSTM1_ENST00000376929.3_Silent_p.G179G|SQSTM1_ENST00000360718.5_Silent_p.G179G|SQSTM1_ENST00000510187.1_Silent_p.G263G	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	263					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCACGGAGGGAAAAGAAGCC	0.587													5	76					0	0	0	0	A	179260066	G	A	179260066	2	1	134	1	0	0	0	0	0	0	0	1	15220	1161	41	2		2	SQSTM1	5	179260066	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	5900575	179260066	1655194	69	25412											
PAK1IP1	55003	broad.mit.edu	37	chr6	10707720	10707720	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgagtgatggtttcatCaaaatgtggaagcttaagca	13	11	11	6	1	2	1	2	1	0	0	3	3	2	2	0	2	2	4	0	2	4	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:10707720C>A	ENST00000379568.3	+	8	1104	c.813C>A	c.(811-813)atC>atA	p.I271I		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	271					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				ATGGTTTCATCAAAATGTGGA	0.343													31	124					2.80507e-11	3.0075e-11	1	0	A	10707720	C	A	10707720	2	1	134	1	0	0	0	0	0	0	0	1	11471	816	29	2		2	PAK1IP1	6	10707720	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08		10707720	160407347	70	25413											
NEDD9	4739	broad.mit.edu	37	chr6	11213915	11213915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgcgaaaggccagttcctCggcacactctgggacattgt	8	10	11	12	2	1	0	0	0	1	0	3	2	2	1	2	3	1	2	2	3	1	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:11213915C>T	ENST00000379446.5	-	2	224	c.58G>A	c.(58-60)Gag>Aag	p.E20K	NEDD9_ENST00000379433.5_Missense_Mutation_p.E20K|RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.E20K	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	20	SH3.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCCAGTTCCTCGGCACACTCT	0.522													13	66					0	0	0	0	T	11213915	C	T	11213915	3	4	134	1	0	0	0	0	1	0	0	0	10383	893	31	1	2540	1	NEDD9	6	11213915	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	506195	11213915	159901152	71	25414											
HIST1H3I	8354	broad.mit.edu	37	chr6	27839692	27839692	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gataggaatatttatgccctCtcccctcggatgcggcgcgc	7	10	11	13	4	1	0	0	0	1	0	3	3	1	2	3	3	2	0	3	3	4	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:27839692C>G	ENST00000328488.2	-	1	407	c.402G>C	c.(400-402)gaG>gaC	p.E134D		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	134					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTTATGCCCTCTCCCCTCGGA	0.507													23	233					0	0	0	0	G	27839692	C	G	27839692	3	3	134	1	0	0	0	0	1	0	0	0	7213	912	32	2	12	2	HIST1H3I	6	27839692	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	16625777	27839692	143275375	72	25415											
HIST1H3I	8354	broad.mit.edu	37	chr6	27839802	27839802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagccccaccaggtaggcctCgcaagcctcctgcagcgcca	8	5	10	18	2	0	0	0	0	0	0	2	0	1	0	7	2	4	3	7	2	3	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:27839802C>T	ENST00000328488.2	-	1	297	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGTAGGCCTCGCAAGCCTCC	0.572													26	105					0	0	0	0	T	27839802	C	T	27839802	3	4	134	1	0	0	0	0	1	0	0	0	7213	893	31	1	122	1	HIST1H3I	6	27839802	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	110	27839802	143275265	73	25416											
NFKBIL1	4795	broad.mit.edu	37	chr6	31516144	31516144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcctgctgcttcggctcGgggctgaccctgcccaccag	3	9	13	16	2	0	1	0	1	0	0	2	1	0	1	4	3	4	4	4	3	0	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:31516144G>A	ENST00000376148.4	+	2	376	c.262G>A	c.(262-264)Ggg>Agg	p.G88R	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.G88R	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	88					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GCTTCGGCTCGGGGCTGACCC	0.697													5	13					0	0	0	0	A	31516144	G	A	31516144	3	1	134	1	0	0	0	0	1	0	0	0	10451	1116	39	1	268	1	NFKBIL1	6	31516144	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	3676342	31516144	139598923	74	25417											
VPS52	6293	broad.mit.edu	37	chr6	33237329	33237329	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctatattctcactctcttGaatatctgatccacaaaaag	13	14	4	10	0	3	2	1	2	3	0	6	2	4	2	1	0	1	1	1	0	6	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:33237329G>C	ENST00000445902.2	-	5	528	c.310C>G	c.(310-312)Caa>Gaa	p.Q104E	VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	104					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TCACTCTCTTGAATATCTGAT	0.433													27	90					0	0	0	0	C	33237329	G	C	33237329	3	2	134	1	0	0	0	0	1	0	0	0	17310	1299	45	2	1925	2	VPS52	6	33237329	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	1721185	33237329	137877738	75	25418											
CUTA	51596	broad.mit.edu	37	chr6	33384884	33384884	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctcaccatcagcaccTcactgtcttcctcgatcttc	6	15	4	16	1	5	0	3	0	3	0	9	1	6	0	3	0	1	2	3	0	0	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:33384884T>C	ENST00000374500.5	-	4	541	c.410A>G	c.(409-411)gAg>gGg	p.E137G	CUTA_ENST00000374496.3_Missense_Mutation_p.E95G|CUTA_ENST00000607266.1_Missense_Mutation_p.E95G|CUTA_ENST00000488034.1_Missense_Mutation_p.E118G|CUTA_ENST00000494751.1_Missense_Mutation_p.E95G|CUTA_ENST00000440279.3_Missense_Mutation_p.E95G|CUTA_ENST00000488478.1_Missense_Mutation_p.E118G	NM_001014433.2	NP_001014433.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	118					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						CATCAGCACCTCACTGTCTTC	0.507													22	70					0	0	0	0	C	33384884	T	C	33384884	3	2	134	1	0	0	0	0	1	0	0	0	4094	1551	54	5	198	5	CUTA	6	33384884	Missense_Mutation	SNP	T	TCGA-CQ-5326-01A-01D-1870-08	147555	33384884	137730183	76	25419											
C6orf106	64771	broad.mit.edu	37	chr6	34614570	34614570	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacccctggaggccaggcctCtgcccctgagttcaagcaaa	10	6	10	15	0	2	1	1	1	1	0	2	2	2	2	6	3	3	2	6	3	3	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:34614570C>G	ENST00000374023.3	-	3	562	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	C6orf106_ENST00000374021.1_Missense_Mutation_p.E33Q|C6orf106_ENST00000374026.3_Intron	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	107										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						GGCCAGGCCTCTGCCCCTGAG	0.458													44	148					0	0	0	0	G	34614570	C	G	34614570	3	3	134	1	0	0	0	0	1	0	0	0	2340	922	32	2	589	2	C6orf106	6	34614570	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	1229686	34614570	136500497	77	25420											
LHFPL5	222662	broad.mit.edu	37	chr6	35773543	35773543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgtgatgtggggtaccctCaccatctgcttctccgtact	5	12	11	13	2	3	1	1	1	2	0	4	1	3	1	3	3	3	3	3	3	2	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:35773543C>T	ENST00000360215.1	+	1	473	c.96C>T	c.(94-96)ctC>ctT	p.L32L	LHFPL5_ENST00000373853.1_Silent_p.L32L	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	32						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GGGGTACCCTCACCATCTGCT	0.587													36	103					0	0	0	0	T	35773543	C	T	35773543	2	4	134	1	0	0	0	0	0	0	0	1	8822	813	29	2		2	LHFPL5	6	35773543	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	1158973	35773543	135341524	78	25421											
MEP1A	4224	broad.mit.edu	37	chr6	46793145	46793145	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcccaccatcacagccaaGatccctgagtttaactccat	11	10	5	15	0	1	2	1	1	0	1	4	2	4	2	5	0	2	2	5	0	2	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:46793145G>A	ENST00000230588.4	+	8	702	c.693G>A	c.(691-693)aaG>aaA	p.K231K		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	231	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCACAGCCAAGATCCCTGAGT	0.428													23	59					0	0	0	0	A	46793145	G	A	46793145	2	1	134	1	0	0	0	0	0	0	0	1	9544	933	33	2		2	MEP1A	6	46793145	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	11019602	46793145	124321922	79	25422											
GPR116	221395	broad.mit.edu	37	chr6	46826148	46826148	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttggtgtcctcccagttGagccaacagacattcttcct	7	12	8	14	0	1	2	0	1	1	1	4	2	4	2	5	1	2	1	5	1	1	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:46826148G>C	ENST00000283296.7	-	17	3780	c.3492C>G	c.(3490-3492)ctC>ctG	p.L1164L	GPR116_ENST00000265417.7_Silent_p.L1164L|GPR116_ENST00000545669.1_Silent_p.L593L|GPR116_ENST00000362015.4_Silent_p.L1164L|GPR116_ENST00000456426.2_Silent_p.L1022L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1164					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCTCCCAGTTGAGCCAACAGA	0.552													18	39					0	0	0	0	C	46826148	G	C	46826148	2	2	134	1	0	0	0	0	0	0	0	1	6682	1277	45	2		2	GPR116	6	46826148	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	33003	46826148	124288919	80	25423											
SENP6	26054	broad.mit.edu	37	chr6	76376506	76376506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctcctcagcctgctgattCagcatgttcttcccctgcac	6	13	6	16	0	4	1	2	1	2	0	6	1	5	1	4	0	4	4	4	0	0	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:76376506C>T	ENST00000370014.3	+	10	1692	c.1073C>T	c.(1072-1074)tCa>tTa	p.S358L	SENP6_ENST00000447266.2_Missense_Mutation_p.S358L|SENP6_ENST00000370010.2_Missense_Mutation_p.S351L|SENP6_ENST00000327284.8_Missense_Mutation_p.S351L	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	358					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CCTGCTGATTCAGCATGTTCT	0.408													22	70					0	0	0	0	T	76376506	C	T	76376506	3	4	134	1	0	0	0	0	1	0	0	0	14137	838	29	2	1111	2	SENP6	6	76376506	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	29550358	76376506	94738561	81	25424											
REV3L	5980	broad.mit.edu	37	chr6	111697184	111697184	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacatatagtgtgctgcttGctggctgaggcttggctttt	7	15	12	7	0	0	1	0	1	0	0	0	1	0	1	0	3	4	6	0	3	3	6			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:111697184G>A	ENST00000435970.1	-	15	2956	c.2140C>T	c.(2140-2142)Caa>Taa	p.Q714*	REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q792*|REV3L_ENST00000358835.3_Nonsense_Mutation_p.Q792*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q792*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	792					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGTGCTGCTTGCTGGCTGAGG	0.358								DNA polymerases (catalytic subunits)					26	125					0	0	0	0	A	111697184	G	A	111697184	4	1	134	1	0	0	0	0	0	1	0	0	13322	1328	46	4	7098	4	REV3L	6	111697184	Nonsense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	35320678	111697184	59417883	82	25425											
RFPL4B	442247	broad.mit.edu	37	chr6	112671180	112671180	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgcacgtgagggaggagctCcggcattttcgggaggatgt	7	9	17	8	3	0	1	0	1	0	0	2	5	1	5	1	5	2	3	1	5	0	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:112671180C>G	ENST00000441065.2	+	3	582	c.270C>G	c.(268-270)ctC>ctG	p.L90L	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	90	B30.2/SPRY.						zinc ion binding	p.L90L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GGGAGGAGCTCCGGCATTTTC	0.527													4	55					0	0	0	0	G	112671180	C	G	112671180	2	3	134	1	0	0	0	0	0	0	0	1	13338	842	30	2		2	RFPL4B	6	112671180	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	973996	112671180	58443887	83	25426											
ZUFSP	221302	broad.mit.edu	37	chr6	116987891	116987891	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttttccacagaatggacaTtcaggaggactgtatgttgt	11	14	10	6	0	1	1	1	0	0	1	2	4	2	4	1	3	0	2	1	3	2	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:116987891T>A	ENST00000368576.3	-	2	708	c.465A>T	c.(463-465)gaA>gaT	p.E155D	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Missense_Mutation_p.E155D	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	155						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AGAATGGACATTCAGGAGGAC	0.373													19	95					0	0	0	0	A	116987891	T	A	116987891	3	1	134	1	0	0	0	0	1	0	0	0	18337	1490	52	5	1307	5	ZUFSP	6	116987891	Missense_Mutation	SNP	T	TCGA-CQ-5326-01A-01D-1870-08	4316711	116987891	54127176	84	25427											
TRDN	10345	broad.mit.edu	37	chr6	123637620	123637620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgctttggacatcttttCatcttttttagtttcaggtt	6	21	6	8	0	4	0	2	0	2	0	4	1	4	1	1	2	1	3	1	2	1	8			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:123637620C>T	ENST00000334268.4	-	24	1809	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	TRDN_ENST00000398178.3_Missense_Mutation_p.E498K			Q13061	TRDN_HUMAN	triadin	498					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GACATCTTTTCATCTTTTTTA	0.328													19	82					0	0	0	0	T	123637620	C	T	123637620	3	4	134	1	0	0	0	0	1	0	0	0	16563	835	29	2	769	2	TRDN	6	123637620	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	6649729	123637620	47477447	85	25428											
SLC35D3	340146	broad.mit.edu	37	chr6	137245833	137245833	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaggagttacccagtccttGagaaggaggtgcatgtacgt	10	9	14	8	2	0	1	0	1	0	1	1	5	1	3	2	3	3	3	2	3	3	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:137245833G>C	ENST00000331858.4	+	2	1415	c.1250G>C	c.(1249-1251)tGa>tCa	p.*417S		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	0					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCCAGTCCTTGAGAAGGAGGT	0.408													14	37					0	0	0	0	C	137245833	G	C	137245833	4	2	134	1	0	0	0	0	0	0	0	0	14671	1285	45	2	1256	2	SLC35D3	6	137245833	Nonstop_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	13608213	137245833	33869234	86	25429											
TTLL2	83887	broad.mit.edu	37	chr6	167754040	167754040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagcctgctgagttatctCgtgggagggggatactaatt	9	11	14	7	1	1	1	0	1	1	0	2	3	1	3	1	3	3	3	1	3	4	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:167754040C>T	ENST00000239587.5	+	3	740	c.652C>T	c.(652-654)Cgt>Tgt	p.R218C		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	218	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGAGTTATCTCGTGGGAGGGG	0.423													24	69					0	0	0	0	T	167754040	C	T	167754040	3	4	134	1	0	0	0	0	1	0	0	0	16823	884	31	1	662	1	TTLL2	6	167754040	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	30508207	167754040	3361027	87	25430											
ZNF12	7559	broad.mit.edu	37	chr7	6730809	6730809	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcgattaagggctgaattCtggcagaaggttttcccaca	10	12	11	8	1	1	2	0	1	1	1	3	3	2	2	1	3	0	3	1	3	3	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:6730809C>T	ENST00000405858.1	-	5	2305	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Silent_p.Q550Q|ZNF12_ENST00000404360.1_Silent_p.Q514Q	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	588					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGGCTGAATTCTGGCAGAAGG	0.413													14	43					0	0	0	0	T	6730809	C	T	6730809	2	4	134	1	0	0	0	0	0	0	0	1	17813	912	32	2		2	ZNF12	7	6730809	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08		6730809	152407854	88	25431											
THSD7A	221981	broad.mit.edu	37	chr7	11468681	11468681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaggacttgctgcagcGcgaccagttggaccactcac	9	6	10	16	2	1	0	1	0	0	0	1	3	1	2	3	2	3	3	3	2	0	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:11468681G>A	ENST00000423059.3	-	14	3387	c.3136C>T	c.(3136-3138)Cgc>Tgc	p.R1046C	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1046	TSP type-1 11.					integral to membrane		p.R1046C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTGCTGCAGCGCGACCAGTTG	0.517										HNSCC(18;0.044)			63	219					0	0	0	0	A	11468681	G	A	11468681	3	1	134	1	0	0	0	0	1	0	0	0	15973	1087	38	1	1893	1	THSD7A	7	11468681	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	4737872	11468681	147669982	89	25432											
STK31	56164	broad.mit.edu	37	chr7	23766884	23766884	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtggattattttctgaaGatcagtgttggtacagatgc	10	15	12	4	0	2	3	1	1	1	2	2	4	2	4	0	3	2	2	0	3	3	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:23766884G>C	ENST00000354639.3	+	5	669	c.205G>C	c.(205-207)Gat>Cat	p.D69H	STK31_ENST00000355870.3_Missense_Mutation_p.D92H|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.D69H|STK31_ENST00000433467.2_Missense_Mutation_p.D92H	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	92							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTTTCTGAAGATCAGTGTTG	0.308													11	61					0	0	0	0	C	23766884	G	C	23766884	3	2	134	1	0	0	0	0	1	0	0	0	15386	942	33	2	292	2	STK31	7	23766884	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	12298203	23766884	135371779	90	25433											
TRIL	9865	broad.mit.edu	37	chr7	28996924	28996924	+	RNA	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggtgctggaagatgcGcggcccgaggtgctgcaggt	6	7	19	9	3	0	1	0	0	0	1	0	3	0	2	1	6	4	4	1	6	1	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:28996924G>C	ENST00000322982.3	-	0	1010							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										TGGAAGATGCGCGGCCCGAGG	0.697													7	40					0	0	0	0	C	28996924	G	C	28996924	1	2	134	0	1	0	0	0	0	0	0	0	16580	1087	38	3		3	TRIL	7	28996924	RNA	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	5230040	28996924	130141739	91	25434											
KBTBD2	25948	broad.mit.edu	37	chr7	32919190	32919190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacacagcatattcagtattGatctgcctctcgtcttgagt	9	14	8	10	1	4	2	1	2	3	0	5	3	4	2	1	0	2	2	1	0	2	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:32919190G>C	ENST00000304056.4	-	2	726	c.27C>G	c.(25-27)atC>atG	p.I9M	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	9										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATTCAGTATTGATCTGCCTCT	0.388													4	24					0	0	0	0	C	32919190	G	C	32919190	3	2	134	1	0	0	0	0	1	0	0	0	8046	1280	45	2	1856	2	KBTBD2	7	32919190	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	3922266	32919190	126219473	92	25435											
BMPER	168667	broad.mit.edu	37	chr7	34118698	34118698	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcagcctgcagcagcacctCaccgtgcgctggaacggctc	7	6	12	16	3	2	0	2	0	0	0	3	1	2	1	3	2	6	5	3	2	1	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:34118698C>G	ENST00000297161.2	+	13	1682	c.1308C>G	c.(1306-1308)ctC>ctG	p.L436L	BMPER_ENST00000426693.1_Silent_p.L436L	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	436	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGCAGCACCTCACCGTGCGCT	0.652													21	97					0	0	0	0	G	34118698	C	G	34118698	2	3	134	1	0	0	0	0	0	0	0	1	1473	813	29	2		2	BMPER	7	34118698	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	1199508	34118698	125019965	93	25436											
HECW1	23072	broad.mit.edu	37	chr7	43591890	43591890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtgatagctggcaccgcgGaaatcgacctaaatgactgg	11	8	13	9	3	0	2	0	2	0	0	1	4	0	3	2	4	1	2	2	4	4	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:43591890G>A	ENST00000395891.1	+	28	5070	c.4465G>A	c.(4465-4467)Gaa>Aaa	p.E1489K	HECW1_ENST00000453890.1_Missense_Mutation_p.E1455K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1489	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGCACCGCGGAAATCGACCT	0.522													25	95					0	0	0	0	A	43591890	G	A	43591890	3	1	134	1	0	0	0	0	1	0	0	0	7092	1175	41	2	4567	2	HECW1	7	43591890	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	9473192	43591890	115546773	94	25437											
AUTS2	26053	broad.mit.edu	37	chr7	70255920	70255920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccagaaggacgactcctCtgtccgcagagataagggag	11	6	12	12	2	1	2	0	0	1	2	4	6	4	4	3	2	0	1	3	2	2	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:70255920C>T	ENST00000342771.4	+	19	4039	c.3718C>T	c.(3718-3720)Ctg>Ttg	p.L1240L	AUTS2_ENST00000406775.2_Silent_p.L1216L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1240										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACGACTCCTCTGTCCGCAGA	0.622													6	20					0	0	0	0	T	70255920	C	T	70255920	2	4	134	1	0	0	0	0	0	0	0	1	1229	912	32	2		2	AUTS2	7	70255920	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	26664030	70255920	88882743	95	25438											
SRRM3	222183	broad.mit.edu	37	chr7	75894128	75894128	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagagaagaacaaagagaaGaagaggtaagcgccctccct	19	3	11	8	1	0	5	0	0	0	5	1	7	1	5	2	1	2	1	2	1	7	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:75894128G>C	ENST00000388802.4	+	9	929	c.720G>C	c.(718-720)aaG>aaC	p.K240N	SRRM3_ENST00000326382.8_Missense_Mutation_p.K240N					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						ACAAAGAgaagaagaggtaag	0.542													11	43					0	0	0	0	C	75894128	G	C	75894128	3	2	134	1	0	0	0	0	1	0	0	0	15260	933	33	2	750	2	SRRM3	7	75894128	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	5638208	75894128	83244535	96	25439											
SEMA3C	10512	broad.mit.edu	37	chr7	80418764	80418764	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaattgtacatgagaggAtggttccgaataaaagtgac	15	10	12	4	1	0	2	0	2	0	1	1	6	1	4	1	3	1	2	1	3	5	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:80418764A>G	ENST00000265361.3	-	12	1773	c.1212T>C	c.(1210-1212)caT>caC	p.H404H	SEMA3C_ENST00000544525.1_Silent_p.H422H|SEMA3C_ENST00000419255.2_Silent_p.H404H	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	404	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACATGAGAGGATGGTTCCGAA	0.418													16	125					0	0	0	0	G	80418764	A	G	80418764	2	3	134	1	0	0	0	0	0	0	0	1	14113	330	12	5		5	SEMA3C	7	80418764	Silent	SNP	A	TCGA-CQ-5326-01A-01D-1870-08	4524636	80418764	78719899	97	25440											
ZNF3	7551	broad.mit.edu	37	chr7	99669200	99669200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaccagtgtggattctctGatggtgggtgagggtggagc	6	11	17	7	0	2	2	1	2	1	0	3	4	2	4	1	5	1	0	1	5	0	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:99669200G>C	ENST00000303915.6	-	5	1874	c.907C>G	c.(907-909)Cag>Gag	p.Q303E	ZNF3_ENST00000299667.4_Missense_Mutation_p.Q303E|ZNF3_ENST00000424697.1_Missense_Mutation_p.Q303E|ZNF3_ENST00000413658.2_Intron			P17036	ZNF3_HUMAN	zinc finger protein 3	303					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGGATTCTCTGATGGTGGGTG	0.532													12	49					0	0	0	0	C	99669200	G	C	99669200	3	2	134	1	0	0	0	0	1	0	0	0	17924	1299	45	2	566	2	ZNF3	7	99669200	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	19250436	99669200	59469463	98	25441											
MCM7	4176	broad.mit.edu	37	chr7	99694942	99694942	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgcgaggcgccagtcgatCaatgtatgacaggagctgag	11	7	14	9	3	1	2	1	2	0	0	2	5	1	3	1	2	2	2	1	2	2	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:99694942C>G	ENST00000303887.5	-	10	1828	c.1183G>C	c.(1183-1185)Gat>Cat	p.D395H	MCM7_ENST00000354230.3_Missense_Mutation_p.D219H|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	395	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCCAGTCGATCAATGTATGAC	0.507													13	53					0	0	0	0	G	99694942	C	G	99694942	3	3	134	1	0	0	0	0	1	0	0	0	9461	826	29	2	1000	2	MCM7	7	99694942	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	25742	99694942	59443721	99	25442											
SLC26A5	375611	broad.mit.edu	37	chr7	103050935	103050935	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcggtggtaaacccaCggaccagaggctctgtgaga	9	7	14	11	2	1	2	0	1	1	2	1	4	1	3	2	4	3	3	2	4	2	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:103050935C>T	ENST00000354356.4	-	0	798				SLC26A5_ENST00000432958.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000393723.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.R174H|SLC26A5_ENST00000393730.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393735.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000356767.4_Missense_Mutation_p.R211H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.R211H|SLC26A5_ENST00000306312.3_Missense_Mutation_p.R211H			P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5						regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GGTAAACCCACGGACCAGAGG	0.413													11	48					0	0	0	0	T	103050935	C	T	103050935	1	4	134	1	0	0	0	0	0	0	0	0	14608	536	19	1		1	SLC26A5	7	103050935	Translation_Start_Site	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	3355993	103050935	56087728	100	25443											
HBP1	26959	broad.mit.edu	37	chr7	106836328	106836328	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtttatgtgttaagtagtAtggctcgccagcgtcgtgca	8	13	12	8	3	0	0	0	0	0	0	2	0	0	0	1	1	2	6	1	1	4	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:106836328A>G	ENST00000222574.4	+	9	1303	c.1117A>G	c.(1117-1119)Atg>Gtg	p.M373V	HBP1_ENST00000468410.1_Missense_Mutation_p.M373V|HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000485846.1_Missense_Mutation_p.M373V	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	373					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GTTAAGTAGTATGGCTCGCCA	0.373													34	85					0	0	0	0	G	106836328	A	G	106836328	3	3	134	1	0	0	0	0	1	0	0	0	7035	449	16	5	1147	5	HBP1	7	106836328	Missense_Mutation	SNP	A	TCGA-CQ-5326-01A-01D-1870-08	3785393	106836328	52302335	101	25444											
MKLN1	4289	broad.mit.edu	37	chr7	131155605	131155605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtacattttctaggtttGaagaaaaggcccaagtggat	12	13	11	5	0	1	2	0	1	1	1	1	3	1	3	1	3	1	2	1	3	6	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:131155605G>A	ENST00000352689.6	+	16	1973	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	MKLN1_ENST00000421797.2_Missense_Mutation_p.E553K|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	645					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TTCTAGGTTTGAAGAAAAGGC	0.343													13	49					0	0	0	0	A	131155605	G	A	131155605	3	1	134	1	0	0	0	0	1	0	0	0	9672	1291	45	2	2028	2	MKLN1	7	131155605	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	24319277	131155605	27983058	102	25445											
EXOC4	60412	broad.mit.edu	37	chr7	132959795	132959795	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaaaagggtcgccttgaaGaagcctacgagaaatgtgac	15	7	12	7	2	0	5	0	3	0	2	1	6	0	5	2	1	2	0	2	1	6	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:132959795G>C	ENST00000253861.4	+	2	174	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q	EXOC4_ENST00000393161.2_Missense_Mutation_p.E49Q|EXOC4_ENST00000539845.1_5'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	49					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TCGCCTTGAAGAAGCCTACGA	0.458													25	56					0	0	0	0	C	132959795	G	C	132959795	3	2	134	1	0	0	0	0	1	0	0	0	5343	943	33	2	151	2	EXOC4	7	132959795	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	1804190	132959795	26178868	103	25446											
OR9A4	130075	broad.mit.edu	37	chr7	141618814	141618814	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacacagtcatcatcatgAttgtctgtgtggataaacgt	13	12	9	7	1	4	1	3	1	1	0	4	3	4	2	0	1	2	0	0	1	3	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:141618814A>T	ENST00000548136.1	+	1	198	c.139A>T	c.(139-141)Att>Ttt	p.I47F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CATCATCATGATTGTCTGTGT	0.458													46	113					0	0	0	0	T	141618814	A	T	141618814	3	4	134	1	0	0	0	0	1	0	0	0	11320	333	12	5	141	5	OR9A4	7	141618814	Missense_Mutation	SNP	A	TCGA-CQ-5326-01A-01D-1870-08	8659019	141618814	17519849	104	25447											
FAM115A	9747	broad.mit.edu	37	chr7	143573171	143573171	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagtaaatgccagccacActggtcacgaggttcccagg	12	7	11	11	1	1	0	1	0	0	0	2	1	2	0	3	3	2	3	3	3	4	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:143573171A>T	ENST00000479870.1	-	2	739	c.531T>A	c.(529-531)agT>agA	p.S177R	FAM115A_ENST00000355951.2_Missense_Mutation_p.S177R|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	177										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					TGCCAGCCACACTGGTCACGA	0.517													12	27					0	0	0	0	T	143573171	A	T	143573171	3	4	134	1	0	0	0	0	1	0	0	0	5446	156	6	5	2266	5	FAM115A	7	143573171	Missense_Mutation	SNP	A	TCGA-CQ-5326-01A-01D-1870-08	1954357	143573171	15565492	105	25448											
OR2A2	442361	broad.mit.edu	37	chr7	143807023	143807023	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtgcctgattttggtggtGatgtcctatgataggtatgt	7	16	14	4	0	0	3	0	3	0	0	1	4	1	3	2	3	1	1	2	3	3	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:143807023G>A	ENST00000408979.2	+	1	417	c.348G>A	c.(346-348)gtG>gtA	p.V116V		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TTTTGGTGGTGATGTCCTATG	0.453													47	93					0	0	0	0	A	143807023	G	A	143807023	2	1	134	1	0	0	0	0	0	0	0	1	11048	1277	45	2		2	OR2A2	7	143807023	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	233852	143807023	15331640	106	25449											
ANK1	286	broad.mit.edu	37	chr8	41557008	41557008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaaatccagcagctccttCtcttcatcaacatccctgga	12	10	4	15	0	3	0	2	0	1	0	7	1	6	1	3	1	3	2	3	1	3	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:41557008C>G	ENST00000396942.1	-	23	2603	c.2520G>C	c.(2518-2520)gaG>gaC	p.E840D	ANK1_ENST00000352337.4_Missense_Mutation_p.E840D|ANK1_ENST00000289734.7_Missense_Mutation_p.E840D|ANK1_ENST00000379758.2_Missense_Mutation_p.E840D|ANK1_ENST00000396945.1_Missense_Mutation_p.E840D|ANK1_ENST00000347528.4_Missense_Mutation_p.E840D|ANK1_ENST00000265709.8_Missense_Mutation_p.E881D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	840					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCAGCTCCTTCTCTTCATCAA	0.577													3	160					0	0	0	0	G	41557008	C	G	41557008	3	3	134	1	0	0	0	0	1	0	0	0	620	912	32	2	3531	2	ANK1	8	41557008	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08		41557008	104807014	107	25450											
STMN2	11075	broad.mit.edu	37	chr8	80577108	80577108	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggttgaactgtctggctGaagcaagggagggtctggca	9	8	16	8	0	2	2	0	2	2	0	2	3	2	3	1	5	2	4	1	5	3	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:80577108G>A	ENST00000220876.7	+	5	921	c.539G>A	c.(538-540)tGa>tAa	p.*180*	STMN2_ENST00000518491.1_Silent_p.*169*|STMN2_ENST00000518111.1_3'UTR	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	0					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CTGTCTGGCTGAAGCAAGGGA	0.483													11	24					0	0	0	0	A	80577108	G	A	80577108	2	1	134	1	0	0	0	0	0	0	0	1	15399	1285	45	2		2	STMN2	8	80577108	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	39020100	80577108	65786914	108	25451											
SYBU	55638	broad.mit.edu	37	chr8	110592224	110592224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccattactccgcccatgagGacctcgactgggagaaaaga	12	7	10	12	2	0	3	0	1	0	2	3	6	2	4	4	2	1	0	4	2	3	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:110592224G>A	ENST00000399066.3	-	4	1256	c.529C>T	c.(529-531)Cct>Tct	p.P177S	SYBU_ENST00000533895.1_Missense_Mutation_p.P179S|SYBU_ENST00000422135.1_Missense_Mutation_p.P180S|SYBU_ENST00000433638.1_Missense_Mutation_p.P180S|SYBU_ENST00000440310.1_Missense_Mutation_p.P180S|SYBU_ENST00000533065.1_Missense_Mutation_p.P61S|SYBU_ENST00000532779.1_Missense_Mutation_p.P112S|SYBU_ENST00000408889.3_Missense_Mutation_p.P61S|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000528647.1_Missense_Mutation_p.P179S|SYBU_ENST00000424158.2_Missense_Mutation_p.P185S|SYBU_ENST00000446070.2_Missense_Mutation_p.P179S|SYBU_ENST00000529690.1_Missense_Mutation_p.P50S|SYBU_ENST00000533171.1_Missense_Mutation_p.P180S|SYBU_ENST00000276646.9_Missense_Mutation_p.P180S|SYBU_ENST00000529175.1_5'UTR|SYBU_ENST00000408908.2_Missense_Mutation_p.P180S|SYBU_ENST00000528331.1_Missense_Mutation_p.P61S|SYBU_ENST00000419099.1_Missense_Mutation_p.P179S	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	180	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CGCCCATGAGGACCTCGACTG	0.483													28	164					0	0	0	0	A	110592224	G	A	110592224	3	1	134	1	0	0	0	0	1	0	0	0	15517	1174	41	2	1465	2	SYBU	8	110592224	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	30015116	110592224	35771798	109	25452											
KIAA0196	9897	broad.mit.edu	37	chr8	126051188	126051188	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatagtgggcttcaatgtCtgctaggagagccctaaagg	10	10	13	8	0	2	2	1	1	1	1	2	3	2	2	1	3	2	2	1	3	5	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:126051188C>G	ENST00000318410.7	-	25	3317	c.2968G>C	c.(2968-2970)Gac>Cac	p.D990H	KIAA0196_ENST00000517845.1_Missense_Mutation_p.D842H	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	990					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GCTTCAATGTCTGCTAGGAGA	0.398													53	149					0	0	0	0	G	126051188	C	G	126051188	3	3	134	1	0	0	0	0	1	0	0	0	8212	913	32	2	531	2	KIAA0196	8	126051188	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	15458964	126051188	20312834	110	25453											
ZC3H3	23144	broad.mit.edu	37	chr8	144621295	144621295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagggtctgagggtcccGggggccgattcacgagggag	7	5	20	9	3	2	1	1	1	1	0	3	5	3	3	2	6	0	0	2	6	0	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:144621295G>A	ENST00000262577.5	-	2	273	c.242C>T	c.(241-243)cCg>cTg	p.P81L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	81					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	p.P81Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGAGGGTCCCGGGGGCCGATT	0.667													36	114					0	0	0	0	A	144621295	G	A	144621295	3	1	134	1	0	0	0	0	1	0	0	0	17664	1116	39	1	2648	1	ZC3H3	8	144621295	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	18570107	144621295	1742727	111	25454											
ZNF707	286075	broad.mit.edu	37	chr8	144776617	144776617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgacgaagaggttctacGagtgcggccactgtgggaaa	11	7	14	9	3	1	2	0	1	1	1	1	5	1	3	2	3	2	1	2	3	3	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:144776617G>A	ENST00000532205.1	+	8	1932	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	ZNF707_ENST00000532158.1_Missense_Mutation_p.E345K|ZNF707_ENST00000358656.4_Missense_Mutation_p.E345K|ZNF707_ENST00000418203.2_Missense_Mutation_p.E345K|ZNF707_ENST00000454097.1_Missense_Mutation_p.E345K			Q96C28	ZN707_HUMAN	zinc finger protein 707	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGGTTCTACGAGTGCGGCCA	0.647													9	26					0	0	0	0	A	144776617	G	A	144776617	3	1	134	1	0	0	0	0	1	0	0	0	18206	1059	37	1	1047	1	ZNF707	8	144776617	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	155322	144776617	1587405	112	25455											
PLEC	5339	broad.mit.edu	37	chr8	145011230	145011230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcatcattcctgatgttcaCcagcttcacctgtgagcgag	8	12	9	12	1	4	2	4	2	0	0	5	3	5	2	3	0	2	2	3	0	0	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:145011230C>A	ENST00000322810.4	-	5	932	c.763G>T	c.(763-765)Gtg>Ttg	p.V255L	PLEC_ENST00000436759.2_Missense_Mutation_p.V145L|PLEC_ENST00000398774.2_Missense_Mutation_p.V86L|PLEC_ENST00000354589.3_Missense_Mutation_p.V118L|PLEC_ENST00000357649.2_Missense_Mutation_p.V122L|PLEC_ENST00000354958.2_Missense_Mutation_p.V96L|PLEC_ENST00000527096.1_Missense_Mutation_p.V145L|PLEC_ENST00000356346.3_Missense_Mutation_p.V104L|PLEC_ENST00000345136.3_Missense_Mutation_p.V118L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	255	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGATGTTCACCAGCTTCACC	0.642													50	67					1.07234e-20	1.18223e-20	1	0	A	145011230	C	A	145011230	3	1	134	1	0	0	0	0	1	0	0	0	12124	507	18	4	13403	4	PLEC	8	145011230	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	234613	145011230	1352792	113	25456											
CBWD1	55871	broad.mit.edu	37	chr9	164038	164038	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatagaagccactgcacCtgaaaatatataatattcat	19	10	4	8	0	1	2	1	1	0	1	1	2	1	2	2	0	3	1	2	0	9	6			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284													5	236					0	0	0	0	G	164038	C	G	164038	5	3	134	1	0	0	0	0	0	0	1	0	2737	695	24	4	801	4	CBWD1	9	164038	Splice_Site	SNP	C	TCGA-CQ-5326-01A-01D-1870-08		164038	141049393	114	25457											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	13					0	0	0	0	A	21971120	G	A	21971120	4	1	134	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	21807082	21971120	119242311	115	25458											
MAMDC2	256691	broad.mit.edu	37	chr9	72755126	72755126	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctctgcaacttttaccaaGataaagaaggtccaggttgg	13	11	9	8	0	1	2	0	0	1	2	3	2	2	2	2	3	3	2	2	3	6	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:72755126G>C	ENST00000377182.4	+	8	1677	c.1060G>C	c.(1060-1062)Gat>Cat	p.D354H	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	354	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTTTTACCAAGATAAAGAAGG	0.453													28	115					0	0	0	0	C	72755126	G	C	72755126	3	2	134	1	0	0	0	0	1	0	0	0	9272	942	33	2	1090	2	MAMDC2	9	72755126	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	50784006	72755126	68458305	116	25459											
MAMDC2	256691	broad.mit.edu	37	chr9	72758548	72758548	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctatgggccctccctaccagGaaacttgcagtattgtctgc	8	11	9	13	0	1	0	0	0	1	0	2	1	2	1	3	2	4	2	3	2	4	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:72758548G>C	ENST00000377182.4	+	9	1834	c.1217G>C	c.(1216-1218)gGa>gCa	p.G406A	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	406	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCCCTACCAGGAAACTTGCAG	0.423													24	82					0	0	0	0	C	72758548	G	C	72758548	3	2	134	1	0	0	0	0	1	0	0	0	9272	1174	41	2	1251	2	MAMDC2	9	72758548	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	3422	72758548	68454883	117	25460											
SECISBP2	79048	broad.mit.edu	37	chr9	91973689	91973689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggatgtaccctggagctaGaagaatccttggaggcttca	10	10	13	8	0	1	2	1	0	0	2	2	5	2	5	2	4	2	3	2	4	4	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:91973689G>A	ENST00000375807.3	+	17	2586	c.2515G>A	c.(2515-2517)Gaa>Aaa	p.E839K	SECISBP2_ENST00000339901.4_Missense_Mutation_p.E766K|SECISBP2_ENST00000534113.2_Missense_Mutation_p.E771K	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	839					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCTGGAGCTAGAAGAATCCTT	0.413													7	41					0	0	0	0	A	91973689	G	A	91973689	3	1	134	1	0	0	0	0	1	0	0	0	14093	943	33	2	2581	2	SECISBP2	9	91973689	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	19215141	91973689	49239742	118	25461											
WNK2	65268	broad.mit.edu	37	chr9	96054670	96054670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcccatgtggtccccagcGtcccccaggtaagggcgact	7	7	11	16	2	0	0	0	0	0	0	3	1	3	0	5	3	1	1	5	3	1	1	rs140544829		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:96054670G>A	ENST00000297954.4	+	22	5128	c.5128G>A	c.(5128-5130)Gtc>Atc	p.V1710I	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.V1322I|WNK2_ENST00000395477.2_Missense_Mutation_p.V1673I|WNK2_ENST00000356055.3_Missense_Mutation_p.V37I|WNK2_ENST00000427277.2_Missense_Mutation_p.V1285I			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1710					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGTCCCCAGCGTCCCCCAGGT	0.562													75	93					0	0	0	0	A	96054670	G	A	96054670	3	1	134	1	0	0	0	0	1	0	0	0	17474	1145	40	1	5099	1	WNK2	9	96054670	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	4080981	96054670	45158761	119	25462											
GARNL3	84253	broad.mit.edu	37	chr9	130111290	130111290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccttgctggtttccactGatgctggcgtcttgctagtg	4	14	13	10	1	1	1	0	1	1	0	2	1	2	1	2	3	3	4	2	3	1	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:130111290G>T	ENST00000373387.4	+	17	1871	c.1519G>T	c.(1519-1521)Gat>Tat	p.D507Y	GARNL3_ENST00000435213.2_Missense_Mutation_p.D485Y|GARNL3_ENST00000314904.5_Missense_Mutation_p.D507Y	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	507	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GGTTTCCACTGATGCTGGCGT	0.502													22	71					1.55469e-16	1.68425e-16	1	0	T	130111290	G	T	130111290	3	4	134	1	0	0	0	0	1	0	0	0	6290	1290	45	2	1585	2	GARNL3	9	130111290	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	34056620	130111290	11102141	120	25463											
NAIF1	203245	broad.mit.edu	37	chr9	130828916	130828916	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcggtggccgagggtccGagggccacagggtggatctc	5	6	19	11	3	1	0	0	0	1	0	3	3	2	1	3	6	1	1	3	6	0	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:130828916G>A	ENST00000373078.4	-	1	684	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	155					apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCGAGGGTCCGAGGGCCACAG	0.652													6	71					0	0	0	0	A	130828916	G	A	130828916	2	1	134	1	0	0	0	0	0	0	0	1	10216	1045	37	1		1	NAIF1	9	130828916	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	717626	130828916	10384515	121	25464											
SPTAN1	6709	broad.mit.edu	37	chr9	131348114	131348114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaaagcttcccagcgtcGgcaggacctggaggactctc	9	6	12	14	2	1	0	0	0	1	0	4	3	2	3	3	4	3	2	3	4	1	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:131348114G>A	ENST00000358161.5	+	19	2761	c.2648G>A	c.(2647-2649)cGg>cAg	p.R883Q	SPTAN1_ENST00000372731.4_Missense_Mutation_p.R883Q|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R883Q			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	883					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCCCAGCGTCGGCAGGACCTG	0.562													27	83					0	0	0	0	A	131348114	G	A	131348114	3	1	134	1	0	0	0	0	1	0	0	0	15207	1116	39	1	2718	1	SPTAN1	9	131348114	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	519198	131348114	9865317	122	25465											
RAPGEF1	2889	broad.mit.edu	37	chr9	134501394	134501394	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaaaatcacccacaaattcGacaggggctgaggaacctcc	14	6	9	12	1	1	1	1	1	0	0	3	3	2	2	3	3	1	2	3	3	4	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:134501394G>A	ENST00000372195.1	-	10	1860	c.1617C>T	c.(1615-1617)gtC>gtT	p.V539V	RAPGEF1_ENST00000372190.3_Silent_p.V540V|RAPGEF1_ENST00000372189.3_Silent_p.V522V			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	522					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCACAAATTCGACAGGGGCTG	0.542													18	59					0	0	0	0	A	134501394	G	A	134501394	2	1	134	1	0	0	0	0	0	0	0	1	13125	1045	37	1		1	RAPGEF1	9	134501394	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	3153280	134501394	6712037	123	25466											
FAM107B	83641	broad.mit.edu	37	chr10	14816385	14816385	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggccgcagtgcggtgacttGaattccgattcgcactgcca	7	9	13	12	4	0	2	0	2	0	0	2	3	1	2	3	2	2	2	3	2	1	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:14816385G>C	ENST00000181796.2	-	1	511	c.278C>G	c.(277-279)tCa>tGa	p.S93*		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCGGTGACTTGAATTCCGATT	0.597													53	118					0	0	0	0	C	14816385	G	C	14816385	4	2	134	1	0	0	0	0	0	1	0	0	5431	1294	45	2	662	2	FAM107B	10	14816385	Nonsense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08		14816385	120718362	124	25467											
GPRIN2	9721	broad.mit.edu	37	chr10	46999441	46999441	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gagacttctaactcagcctgGatgctgggggcgagtcagtt	8	10	14	9	1	3	1	2	0	1	1	3	4	3	2	1	3	3	2	1	3	1	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:46999441G>C	ENST00000374314.4	+	1	1516	c.561G>C	c.(559-561)tgG>tgC	p.W187C	GPRIN2_ENST00000374317.1_Missense_Mutation_p.W187C			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	187										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						ACTCAGCCTGGATGCTGGGGG	0.627													9	37					0	0	0	0	C	46999441	G	C	46999441	3	2	134	1	0	0	0	0	1	0	0	0	6780	1183	41	2	563	2	GPRIN2	10	46999441	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	32183056	46999441	88535306	125	25468											
RBP3	5949	broad.mit.edu	37	chr10	48390446	48390446	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaactcccccatcatgctCagcacctcctggcccgggac	8	6	9	18	1	2	0	2	0	0	0	4	2	4	2	5	3	3	2	5	3	1	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:48390446C>G	ENST00000224600.4	-	1	545	c.432G>C	c.(430-432)ctG>ctC	p.L144L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	144	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.L144L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCATCATGCTCAGCACCTCCT	0.642													19	76					0	0	0	0	G	48390446	C	G	48390446	2	3	134	1	0	0	0	0	0	0	0	1	13239	813	29	2		2	RBP3	10	48390446	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	1391005	48390446	87144301	126	25469											
SLC18A3	6572	broad.mit.edu	37	chr10	50819200	50819200	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctatcctgcagctgctagtGaaccccttgagcgggccctt	6	10	11	14	1	0	2	0	2	0	0	1	2	1	2	4	1	5	4	4	1	3	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:50819200G>C	ENST00000374115.3	+	1	854	c.414G>C	c.(412-414)gtG>gtC	p.V138V	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	138					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						AGCTGCTAGTGAACCCCTTGA	0.632													29	80					0	0	0	0	C	50819200	G	C	50819200	2	2	134	1	0	0	0	0	0	0	0	1	14515	1277	45	2		2	SLC18A3	10	50819200	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	2428754	50819200	84715547	127	25470											
PCDH15	65217	broad.mit.edu	37	chr10	55566626	55566626	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagaggtacattctcctCatgtgtcactgccaacttgt	8	14	8	11	0	4	1	3	0	1	1	5	1	4	1	2	1	3	2	2	1	2	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:55566626C>A	ENST00000373965.2	-	36	5162	c.4768G>T	c.(4768-4770)Gag>Tag	p.E1590*	PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E1587*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACATTCTCCTCATGTGTCACT	0.488										HNSCC(58;0.16)			18	311					5.3912e-06	5.64448e-06	1	0	A	55566626	C	A	55566626	4	1	134	1	0	0	0	0	0	1	0	0	11582	835	29	2	290	2	PCDH15	10	55566626	Nonsense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	4747426	55566626	79968121	128	25471											
PCDH15	65217	broad.mit.edu	37	chr10	55826607	55826607	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacactggagcattgtcattGacatctgtcaccactatgtt	11	13	7	10	0	3	1	2	1	1	0	3	2	3	2	1	1	2	2	1	1	2	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:55826607G>C	ENST00000373965.2	-	19	2545	c.2151C>G	c.(2149-2151)gtC>gtG	p.V717V	PCDH15_ENST00000395432.2_Silent_p.V673V|PCDH15_ENST00000361849.3_Silent_p.V710V|PCDH15_ENST00000373955.1_Silent_p.V710V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.V688V|PCDH15_ENST00000320301.6_Silent_p.V710V|PCDH15_ENST00000395445.1_Silent_p.V717V|PCDH15_ENST00000414778.1_Silent_p.V715V|PCDH15_ENST00000395438.1_Silent_p.V710V|PCDH15_ENST00000409834.1_Silent_p.V321V|PCDH15_ENST00000437009.1_Silent_p.V639V|PCDH15_ENST00000373957.3_Silent_p.V688V|PCDH15_ENST00000395430.1_Silent_p.V710V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	710	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATTGTCATTGACATCTGTCA	0.373										HNSCC(58;0.16)			16	65					0	0	0	0	C	55826607	G	C	55826607	2	2	134	1	0	0	0	0	0	0	0	1	11582	1277	45	2		2	PCDH15	10	55826607	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	259981	55826607	79708140	129	25472											
MYPN	84665	broad.mit.edu	37	chr10	69934302	69934302	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtccccaattcctgtctCtcctaccagccggattcaga	7	12	7	15	1	2	1	1	0	1	1	6	2	5	2	6	1	2	0	6	1	2	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:69934302C>G	ENST00000358913.5	+	11	2941	c.2453C>G	c.(2452-2454)tCt>tGt	p.S818C	MYPN_ENST00000540630.1_Missense_Mutation_p.S818C|MYPN_ENST00000354393.2_Missense_Mutation_p.S543C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	818	Pro-rich.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATTCCTGTCTCTCCTACCAGC	0.567													20	67					0	0	0	0	G	69934302	C	G	69934302	3	3	134	1	0	0	0	0	1	0	0	0	10168	913	32	2	2491	2	MYPN	10	69934302	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	14107695	69934302	65600445	130	25473											
VCL	7414	broad.mit.edu	37	chr10	75855484	75855484	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttatgatggggccttatcgGcaagatcttctcgccaagtg	8	12	12	9	2	2	2	0	1	2	1	4	2	2	2	2	3	0	2	2	3	4	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:75855484G>A	ENST00000211998.4	+	12	1708	c.1614G>A	c.(1612-1614)cgG>cgA	p.R538R	VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Silent_p.R538R	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	538	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GGCCTTATCGGCAAGATCTTC	0.582													4	168					0	0	0	0	A	75855484	G	A	75855484	2	1	134	1	0	0	0	0	0	0	0	1	17235	1190	42	4		4	VCL	10	75855484	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	5921182	75855484	59679263	131	25474											
DLG5	9231	broad.mit.edu	37	chr10	79581243	79581243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctcttggagggctggggaGagtgagcaggcccaggacct	7	6	17	11	0	1	2	0	1	1	1	1	5	1	4	3	6	1	2	3	6	0	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:79581243G>A	ENST00000372391.2	-	15	3004	c.2999C>T	c.(2998-3000)tCt>tTt	p.S1000F	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1000	Pro-rich.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGGCTGGGGAGAGTGAGCAGG	0.572													53	108					0	0	0	0	A	79581243	G	A	79581243	3	1	134	1	0	0	0	0	1	0	0	0	4595	942	33	2	2832	2	DLG5	10	79581243	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	3725759	79581243	55953504	132	25475											
ENTPD1	953	broad.mit.edu	37	chr10	97607402	97607402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcaacaccagttactGcccttactcccagtgtgcct	7	12	6	16	0	2	0	1	0	1	0	3	0	3	0	4	0	5	2	4	0	3	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:97607402G>A	ENST00000371203.5	+	6	1186	c.599G>A	c.(598-600)tGc>tAc	p.C200Y	RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000539125.1_Missense_Mutation_p.C200Y|ENTPD1_ENST00000371205.4_Missense_Mutation_p.C338Y|ENTPD1_ENST00000453258.2_Missense_Mutation_p.C345Y|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000543964.1_Missense_Mutation_p.C230Y|ENTPD1_ENST00000371207.3_Missense_Mutation_p.C350Y	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	338					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		ACCAGTTACTGCCCTTACTCC	0.443													11	132					0	0	0	0	A	97607402	G	A	97607402	3	1	134	1	0	0	0	0	1	0	0	0	5176	1319	46	4	1136	4	ENTPD1	10	97607402	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	18026159	97607402	37927345	133	25476											
PKD2L1	9033	broad.mit.edu	37	chr10	102054860	102054860	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgggtcatggttttgttGaagctgatgtacttgaatat	9	16	12	4	0	1	3	1	3	0	0	1	3	1	3	0	2	3	5	0	2	4	6			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:102054860G>A	ENST00000318222.3	-	8	1759	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	PKD2L1_ENST00000338519.3_Silent_p.F384F|PKD2L1_ENST00000353274.3_Silent_p.F459F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	459					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGGTTTTGTTGAAGCTGATGT	0.502													26	140					0	0	0	0	A	102054860	G	A	102054860	2	1	134	1	0	0	0	0	0	0	0	1	12039	1281	45	2		2	PKD2L1	10	102054860	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	4447458	102054860	33479887	134	25477											
GSTO1	9446	broad.mit.edu	37	chr10	106014946	106014946	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccccggggccggtcccGgagggctcgatccgcatcta	4	5	15	17	6	1	0	0	0	1	0	4	2	3	1	5	5	0	2	5	5	1	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:106014946G>A	ENST00000369713.5	+	2	254	c.60G>A	c.(58-60)ccG>ccA	p.P20P	GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000539281.1_5'UTR|GSTO1_ENST00000369710.4_Silent_p.P20P	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	20					xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	GGCCGGTCCCGGAGGGCTCGA	0.687													18	46					0	0	0	0	A	106014946	G	A	106014946	2	1	134	1	0	0	0	0	0	0	0	1	6892	1103	39	1		1	GSTO1	10	106014946	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	3960086	106014946	29519801	135	25478											
ZRANB1	54764	broad.mit.edu	37	chr10	126660540	126660540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttgtatttaaggtgtctCaacaagcagcaaagtgtatt	12	15	8	6	0	1	0	1	0	1	0	2	0	1	0	0	1	3	4	0	1	6	7			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:126660540C>G	ENST00000359653.4	+	3	1380	c.1009C>G	c.(1009-1011)Caa>Gaa	p.Q337E		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	337					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TAAGGTGTCTCAACAAGCAGC	0.393													11	77					0	0	0	0	G	126660540	C	G	126660540	3	3	134	1	0	0	0	0	1	0	0	0	18315	827	29	2	1019	2	ZRANB1	10	126660540	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	20645594	126660540	8874207	136	25479											
CTBP2	1488	broad.mit.edu	37	chr10	126682486	126682486	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcctgccctccttgagggcTtgtgctaaggctttctcgtc	4	14	10	13	1	1	1	0	1	1	0	5	1	3	1	3	2	2	3	3	2	1	4	rs76949963	by1000genomes	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:126682486T>C	ENST00000309035.6	-	6	2599	c.2469A>G	c.(2467-2469)caA>caG	p.Q823Q	CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	283					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTGAGGGCTTGTGCTAAGG	0.617													4	144					0	0	0	0	C	126682486	T	C	126682486	2	2	134	1	0	0	0	0	0	0	0	1	4030	1606	56	5		5	CTBP2	10	126682486	Silent	SNP	T	TCGA-CQ-5326-01A-01D-1870-08	21946	126682486	8852261	137	25480											
CTBP2	1488	broad.mit.edu	37	chr10	126682516	126682516	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttctcgtccaccaggccGccacgggctgcgttcacaag	6	8	11	16	4	2	0	1	0	1	0	4	0	3	0	4	2	1	3	4	2	1	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:126682516G>A	ENST00000309035.6	-	6	2569	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000337195.5_Silent_p.G273G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582													4	125					0	0	0	0	A	126682516	G	A	126682516	2	1	134	1	0	0	0	0	0	0	0	1	4030	1074	38	1		1	CTBP2	10	126682516	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	30	126682516	8852231	138	25481											
PKP3	11187	broad.mit.edu	37	chr11	399093	399093	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatgcgcaacctcatctaCgacaacgctgacaacaagct	13	6	7	15	3	2	1	1	1	1	0	2	2	2	1	2	0	6	3	2	0	5	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:399093C>G	ENST00000331563.2	+	5	1246	c.1170C>G	c.(1168-1170)taC>taG	p.Y390*		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	390					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTCATCTACGACAACGCTG	0.597													15	37					0	0	0	0	G	399093	C	G	399093	4	3	134	1	0	0	0	0	0	1	0	0	12058	547	19	3	1188	3	PKP3	11	399093	Nonsense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08		399093	134607423	139	25482											
UBQLN3	50613	broad.mit.edu	37	chr11	5529406	5529406	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggctgccgtgggggaaaaAgataagggagcaaatggaac	15	5	16	5	1	0	1	0	0	0	1	0	4	0	4	1	5	3	2	1	5	5	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:5529406A>G	ENST00000311659.4	-	2	1530	c.1383T>C	c.(1381-1383)tcT>tcC	p.S461S	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	461										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGGAAAAAGATAAGGGAG	0.547													9	53					0	0	0	0	G	5529406	A	G	5529406	2	3	134	1	0	0	0	0	0	0	0	1	16994	59	3	5		5	UBQLN3	11	5529406	Silent	SNP	A	TCGA-CQ-5326-01A-01D-1870-08	5130313	5529406	129477110	140	25483											
SOX6	55553	broad.mit.edu	37	chr11	16007886	16007886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttatagtttgggtacttctCtaagtggatcttgcttagcc	7	18	9	7	0	2	0	0	0	2	0	3	1	2	1	1	2	3	3	1	2	5	9			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:16007886C>T	ENST00000352083.6	-	15	2124	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K	SOX6_ENST00000528429.1_Missense_Mutation_p.E683K|SOX6_ENST00000316399.6_Missense_Mutation_p.E663K|SOX6_ENST00000527619.1_Missense_Mutation_p.E659K|SOX6_ENST00000396356.3_Missense_Mutation_p.E663K|SOX6_ENST00000528252.1_Missense_Mutation_p.E656K			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	683					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GGGTACTTCTCTAAGTGGATC	0.443													49	122					0	0	0	0	T	16007886	C	T	16007886	3	4	134	1	0	0	0	0	1	0	0	0	15043	922	32	2	447	2	SOX6	11	16007886	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	10478480	16007886	118998630	141	25484											
DGKZ	8525	broad.mit.edu	37	chr11	46394220	46394220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctggcgtgcgggggcgAcggcacggtgagctccccgc	4	5	18	14	6	0	1	0	1	0	0	2	3	2	1	3	5	2	2	3	5	0	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:46394220A>G	ENST00000454345.1	+	13	1753	c.1628A>G	c.(1627-1629)gAc>gGc	p.D543G	DGKZ_ENST00000528615.1_Missense_Mutation_p.D133G|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000318201.8_Missense_Mutation_p.D332G|DGKZ_ENST00000527911.1_Missense_Mutation_p.D355G|DGKZ_ENST00000532868.2_Missense_Mutation_p.D359G|DGKZ_ENST00000456247.2_Missense_Mutation_p.D354G|DGKZ_ENST00000421244.2_Missense_Mutation_p.D355G|DGKZ_ENST00000395574.3_Missense_Mutation_p.D321G|DGKZ_ENST00000343674.6_Missense_Mutation_p.D371G	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	543	DAGKc.|Mediates interaction with RASGRP1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGCGGGGGCGACGGCACGGTG	0.662													13	24					0	0	0	0	G	46394220	A	G	46394220	3	3	134	1	0	0	0	0	1	0	0	0	4511	275	10	5	2121	5	DGKZ	11	46394220	Missense_Mutation	SNP	A	TCGA-CQ-5326-01A-01D-1870-08	30386334	46394220	88612296	142	25485											
AGBL2	79841	broad.mit.edu	37	chr11	47698947	47698947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaagctctgctagacactGagtgaactatgaaagtgaaa	15	10	9	7	0	1	5	0	4	1	1	1	5	1	5	0	0	3	2	0	0	6	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:47698947G>C	ENST00000525123.1	-	14	2308	c.2023C>G	c.(2023-2025)Cag>Gag	p.Q675E	AGBL2_ENST00000528244.1_Missense_Mutation_p.Q637E|AGBL2_ENST00000357610.3_Missense_Mutation_p.Q675E|AGBL2_ENST00000529712.1_Intron|AGBL2_ENST00000298861.4_Missense_Mutation_p.Q675E	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	675					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GCTAGACACTGAGTGAACTAT	0.318													6	34					0	0	0	0	C	47698947	G	C	47698947	3	2	134	1	0	0	0	0	1	0	0	0	376	1299	45	2	709	2	AGBL2	11	47698947	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	1304727	47698947	87307569	143	25486											
FOLH1	2346	broad.mit.edu	37	chr11	49186311	49186311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcggtgtacaatcaactctCagagtgtagtttcctgaaaa	13	11	9	8	1	2	2	2	1	1	1	4	2	3	2	1	1	3	3	1	1	6	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:49186311C>T	ENST00000340334.7	-	14	1709	c.1341G>A	c.(1339-1341)ctG>ctA	p.L447L	FOLH1_ENST00000256999.2_Silent_p.L462L|FOLH1_ENST00000533034.1_Silent_p.L447L|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000356696.3_Silent_p.L462L|FOLH1_ENST00000343844.4_Silent_p.L154L	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	462	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AATCAACTCTCAGAGTGTAGT	0.294													8	24					0	0	0	0	T	49186311	C	T	49186311	2	4	134	1	0	0	0	0	0	0	0	1	6024	813	29	2		2	FOLH1	11	49186311	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	1487364	49186311	85820205	144	25487											
OR4A5	81318	broad.mit.edu	37	chr11	51411717	51411717	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctttacccctcttttcctGactgtaagttttaagggagc	7	15	9	10	0	1	1	0	1	1	0	2	2	2	2	3	2	2	3	3	2	3	7			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:51411717G>A	ENST00000319760.6	-	1	731	c.679C>T	c.(679-681)Cag>Tag	p.Q227*		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				CTCTTTTCCTGACTGTAAGTT	0.423													8	88					0	0	0	0	A	51411717	G	A	51411717	4	1	134	1	0	0	0	0	0	1	0	0	11114	1299	45	2	272	2	OR4A5	11	51411717	Nonsense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	2225406	51411717	83594799	145	25488											
INCENP	3619	broad.mit.edu	37	chr11	61906207	61906207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagcagaaggaaccccccGaggaggctgagcctgtggcg	9	4	16	12	2	0	3	0	2	0	1	0	6	0	5	4	4	3	2	4	4	2	0	rs140202170		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:61906207G>A	ENST00000394818.3	+	6	1340	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	INCENP_ENST00000278849.4_Missense_Mutation_p.E380K	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	380					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGAACCCCCCGAGGAGGCTGA	0.632													13	47					0	0	0	0	A	61906207	G	A	61906207	3	1	134	1	0	0	0	0	1	0	0	0	7786	1059	37	1	1156	1	INCENP	11	61906207	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	10494490	61906207	73100309	146	25489											
OTUB1	55611	broad.mit.edu	37	chr11	63764101	63764101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttggaggcactgctggatGacagcaaggagttgcagcgg	10	7	16	8	1	0	1	0	1	0	0	0	4	0	4	0	5	4	5	0	5	1	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:63764101G>A	ENST00000538426.1	+	4	363	c.319G>A	c.(319-321)Gac>Aac	p.D107N	OTUB1_ENST00000428192.2_Missense_Mutation_p.D107N|OTUB1_ENST00000543004.1_Missense_Mutation_p.D116N|OTUB1_ENST00000541478.1_Intron|OTUB1_ENST00000535715.1_Missense_Mutation_p.D107N|OTUB1_ENST00000543988.1_Missense_Mutation_p.D77N|OTUB1_ENST00000422031.2_Missense_Mutation_p.D144N	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU domain, ubiquitin aldehyde binding 1	107	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						ACTGCTGGATGACAGCAAGGA	0.592													17	56					0	0	0	0	A	63764101	G	A	63764101	3	1	134	1	0	0	0	0	1	0	0	0	11382	1290	45	2	333	2	OTUB1	11	63764101	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	1857894	63764101	71242415	147	25490											
PACS1	55690	broad.mit.edu	37	chr11	66009032	66009032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcaagagtgtcttccgctCagtgcaggtgtcccgcctgc	5	10	11	15	2	3	1	2	0	1	1	5	1	5	1	4	1	2	2	4	1	1	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:66009032C>T	ENST00000320580.4	+	22	2597	c.2564C>T	c.(2563-2565)tCa>tTa	p.S855L	PACS1_ENST00000529757.1_Missense_Mutation_p.S391L|PACS1_ENST00000524815.1_5'UTR	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	855					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GTCTTCCGCTCAGTGCAGGTG	0.602													13	74					0	0	0	0	T	66009032	C	T	66009032	3	4	134	1	0	0	0	0	1	0	0	0	11443	838	29	2	2650	2	PACS1	11	66009032	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	2244931	66009032	68997484	148	25491											
PITPNM1	9600	broad.mit.edu	37	chr11	67271646	67271646	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgtggtattccttgatGagcatcctgaaggcgctcgg	9	11	13	8	2	0	4	0	3	0	1	3	4	2	4	2	3	1	3	2	3	3	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:67271646G>T	ENST00000356404.3	-	2	231	c.6C>A	c.(4-6)ctC>ctA	p.L2L	PITPNM1_ENST00000534749.1_Silent_p.L2L|PITPNM1_ENST00000436757.2_Silent_p.L2L	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	2					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ATTCCTTGATGAGCATCCTGA	0.706													7	35					1.76689e-08	1.87507e-08	1	0	T	67271646	G	T	67271646	2	4	134	1	0	0	0	0	0	0	0	1	12022	1277	45	2		2	PITPNM1	11	67271646	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	1262614	67271646	67734870	149	25492											
TCIRG1	10312	broad.mit.edu	37	chr11	67818101	67818101	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgatggagggactctCagccttcctgcacgccctgc	5	9	13	14	1	1	1	1	1	1	0	3	3	2	3	3	3	3	2	3	3	0	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:67818101C>A	ENST00000265686.3	+	19	2492	c.2384C>A	c.(2383-2385)tCa>tAa	p.S795*	TCIRG1_ENST00000532635.1_Nonsense_Mutation_p.S579*|TCIRG1_ENST00000530802.1_Intron	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	795					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GAGGGACTCTCAGCCTTCCTG	0.662													31	99					8.73648e-17	9.4975e-17	1	0	A	67818101	C	A	67818101	4	1	134	1	0	0	0	0	0	1	0	0	15797	838	29	2	2454	2	TCIRG1	11	67818101	Nonsense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	546455	67818101	67188415	150	25493											
LRP5	4041	broad.mit.edu	37	chr11	68197131	68197131	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccacggtgctcatgcccagtCcacctcgtgctcctgcagaa	7	8	9	17	2	1	1	1	0	0	1	4	1	3	1	5	1	4	3	5	1	1	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:68197131C>G	ENST00000294304.7	+	17	3832	c.3726C>G	c.(3724-3726)gtC>gtG	p.V1242V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1242	EGF-like 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATGCCCAGTCCACCTCGTGC	0.582													16	101					0	0	0	0	G	68197131	C	G	68197131	2	3	134	1	0	0	0	0	0	0	0	1	9024	842	30	2		2	LRP5	11	68197131	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	379030	68197131	66809385	151	25494											
ARHGEF17	9828	broad.mit.edu	37	chr11	73068155	73068155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctgaagcgaaagtcaggctCcctgcggcgcagctccatga	9	7	12	13	3	2	2	1	2	1	0	4	3	4	2	2	2	3	3	2	2	2	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:73068155C>T	ENST00000263674.3	+	8	4327	c.3977C>T	c.(3976-3978)tCc>tTc	p.S1326F		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1326					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AAGTCAGGCTCCCTGCGGCGC	0.632													10	87					0	0	0	0	T	73068155	C	T	73068155	3	4	134	1	0	0	0	0	1	0	0	0	902	855	30	2	4007	2	ARHGEF17	11	73068155	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	4871024	73068155	61938361	152	25495											
TSKU	25987	broad.mit.edu	37	chr11	76507546	76507546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaacctggtgcccctgcctGaggcgctgctcctccacctc	4	8	9	20	1	0	1	0	1	0	0	3	1	2	1	8	2	4	2	8	2	1	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:76507546G>A	ENST00000527881.1	+	2	1912	c.886G>A	c.(886-888)Gag>Aag	p.E296K	TSKU_ENST00000333090.4_Missense_Mutation_p.E296K			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	296						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCCCTGCCTGAGGCGCTGCT	0.692													5	56					0	0	0	0	A	76507546	G	A	76507546	3	1	134	1	0	0	0	0	1	0	0	0	16722	1291	45	2	888	2	TSKU	11	76507546	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	3439391	76507546	58498970	153	25496											
NAALAD2	10003	broad.mit.edu	37	chr11	89891330	89891330	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaatacactttcagacttGatgttgaagaaggagtggga	14	11	12	4	0	1	5	1	2	0	3	1	7	1	7	0	2	1	1	0	2	5	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:89891330G>C	ENST00000534061.1	+	7	1044	c.814G>C	c.(814-816)Gat>Cat	p.D272H	NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.D272H	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	272	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCAGACTTGATGTTGAAGA	0.328													55	168					0	0	0	0	C	89891330	G	C	89891330	3	2	134	1	0	0	0	0	1	0	0	0	10198	1290	45	2	840	2	NAALAD2	11	89891330	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	13383784	89891330	45115186	154	25497											
ZW10	9183	broad.mit.edu	37	chr11	113614714	113614714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttccagtttgttatcctCatcaggagtgggtaactctg	8	15	9	9	0	3	0	2	0	1	0	5	1	5	1	2	2	2	3	2	2	3	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:113614714C>T	ENST00000200135.3	-	10	1465	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	441					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TTGTTATCCTCATCAGGAGTG	0.333													15	47					0	0	0	0	T	113614714	C	T	113614714	3	4	134	1	0	0	0	0	1	0	0	0	18338	835	29	2	1046	2	ZW10	11	113614714	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	23723384	113614714	21391802	155	25498											
ZNF259	8882	broad.mit.edu	37	chr11	116649676	116649676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggcctgcctcatagccctCtgtcttcatgtcattgagcc	6	12	8	15	0	5	1	3	1	2	0	5	1	5	1	4	1	3	0	4	1	1	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:116649676C>G	ENST00000227322.3	-	14	1404	c.1345G>C	c.(1345-1347)Gag>Cag	p.E449Q		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	449					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TCATAGCCCTCTGTCTTCATG	0.522													17	61					0	0	0	0	G	116649676	C	G	116649676	3	3	134	1	0	0	0	0	1	0	0	0	17896	922	32	2	38	2	ZNF259	11	116649676	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	3034962	116649676	18356840	156	25499											
BACE1	23621	broad.mit.edu	37	chr11	117186311	117186311	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgccccgacttgcccctCaggttgtccaccatctccac	5	9	6	21	1	2	0	1	0	1	0	4	1	3	0	8	1	2	1	8	1	0	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:117186311C>G	ENST00000313005.6	-	1	661	c.201G>C	c.(199-201)ctG>ctC	p.L67L	BACE1_ENST00000513780.1_Silent_p.L67L|BACE1_ENST00000445823.2_Silent_p.L67L|BACE1_ENST00000428381.2_Silent_p.L67L|BACE1_ENST00000528053.1_Silent_p.L67L|BACE1_ENST00000514464.1_5'UTR	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	67					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		ACTTGCCCCTCAGGTTGTCCA	0.711													8	42					0	0	0	0	G	117186311	C	G	117186311	2	3	134	1	0	0	0	0	0	0	0	1	1285	813	29	2		2	BACE1	11	117186311	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	536635	117186311	17820205	157	25500											
MPZL3	196264	broad.mit.edu	37	chr11	118111030	118111030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatttcaacttgatcttttCtccaacataacctcggacat	11	14	4	12	1	3	1	1	1	2	0	5	2	3	2	2	1	3	1	2	1	3	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:118111030C>T	ENST00000278949.4	-	2	191	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Missense_Mutation_p.E34K			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	46	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTGATCTTTTCTCCAACATAA	0.418													14	66					0	0	0	0	T	118111030	C	T	118111030	3	4	134	1	0	0	0	0	1	0	0	0	9821	922	32	2	591	2	MPZL3	11	118111030	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	924719	118111030	16895486	158	25501											
SORL1	6653	broad.mit.edu	37	chr11	121478812	121478812	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccctctgatttgaaaaGgtggctgcggtgactagtcg	8	12	12	9	2	2	3	1	3	1	0	3	3	2	3	1	3	1	1	1	3	3	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:121478812G>A	ENST00000260197.7	+	38	5295		c.e38-1		SORL1_ENST00000525532.1_Splice_Site|SORL1_ENST00000532694.1_Splice_Site|SORL1_ENST00000534286.1_Splice_Site|SORL1_ENST00000527934.1_Splice_Site	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GATTTGAAAAGGTGGCTGCGG	0.393													26	21					0	0	0	0	A	121478812	G	A	121478812	5	1	134	1	0	0	0	0	0	0	1	0	15022	1014	35	4	5316	4	SORL1	11	121478812	Splice_Site	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	3367782	121478812	13527704	159	25502											
SLC2A14	144195	broad.mit.edu	37	chr12	7981428	7981428	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatagcaccggccatagcTcttcagacccaaggatgagt	12	8	9	12	1	2	2	1	1	1	1	2	3	2	3	3	2	2	2	3	2	4	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:7981428T>C	ENST00000543909.1	-	11	1376	c.617A>G	c.(616-618)gAg>gGg	p.E206G	SLC2A14_ENST00000396589.2_Missense_Mutation_p.E206G|SLC2A14_ENST00000542546.1_Missense_Mutation_p.E97G|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.E183G|SLC2A14_ENST00000539924.1_Missense_Mutation_p.E221G|SLC2A14_ENST00000535295.1_Missense_Mutation_p.E97G|SLC2A14_ENST00000340749.5_Missense_Mutation_p.E183G			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	206					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CGGCCATAGCTCTTCAGACCC	0.453													12	125					0	0	0	0	C	7981428	T	C	7981428	3	2	134	1	0	0	0	0	1	0	0	0	14631	1551	54	5	969	5	SLC2A14	12	7981428	Missense_Mutation	SNP	T	TCGA-CQ-5326-01A-01D-1870-08		7981428	125870467	160	25503											
ADAMTS20	80070	broad.mit.edu	37	chr12	43944794	43944794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagcagtggcgcaggtccGagggccctgcgtcgctctcc	6	6	15	14	4	1	1	0	0	1	1	4	2	2	1	3	3	2	3	3	3	1	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:43944794G>A	ENST00000389420.3	-	2	370	c.371C>T	c.(370-372)tCg>tTg	p.S124L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S124L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	124						proteinaceous extracellular matrix	zinc ion binding	p.S124*(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCGCAGGTCCGAGGGCCCTGC	0.667													3	23					0	0	0	0	A	43944794	G	A	43944794	3	1	134	1	0	0	0	0	1	0	0	0	266	1059	37	1	5512	1	ADAMTS20	12	43944794	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	35963366	43944794	89907101	161	25504											
PFKM	5213	broad.mit.edu	37	chr12	48526696	48526696	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcaaggactttcgggaaCgagaaggacgactccgagct	11	6	15	9	4	0	1	0	0	0	1	2	7	1	4	1	4	3	2	1	4	3	1	rs121918195		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:48526696C>T	ENST00000340802.6	+	7	720	c.496C>T	c.(496-498)Cga>Tga	p.R166*	PFKM_ENST00000359794.5_Nonsense_Mutation_p.R95*|PFKM_ENST00000547587.1_Nonsense_Mutation_p.R95*|PFKM_ENST00000551804.1_Nonsense_Mutation_p.R95*|PFKM_ENST00000395233.2_Nonsense_Mutation_p.R95*|PFKM_ENST00000312352.7_Nonsense_Mutation_p.R95*	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	95					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CTTTCGGGAACGAGAAGGACG	0.567													8	40					0	0	0	0	T	48526696	C	T	48526696	4	4	134	1	0	0	0	0	0	1	0	0	11837	528	19	1	518	1	PFKM	12	48526696	Nonsense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	4581902	48526696	85325199	162	25505											
MAP3K12	7786	broad.mit.edu	37	chr12	53880947	53880947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgcaggacactgttggCaaaaggctcagggggcggct	9	7	16	9	1	1	0	1	0	0	0	1	1	1	1	0	6	2	6	0	6	3	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:53880947C>T	ENST00000547035.1	-	2	433	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	MAP3K12_ENST00000267079.2_Intron|MAP3K12_ENST00000547488.1_Missense_Mutation_p.A77T|MAP3K12_ENST00000547151.1_Intron			Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	46					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ACACTGTTGGCAAAAGGCTCA	0.652													9	38					0	0	0	0	T	53880947	C	T	53880947	3	4	134	1	0	0	0	0	1	0	0	0	9315	725	25	4		4	MAP3K12	12	53880947	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	5354251	53880947	79970948	163	25506											
SMARCC2	6601	broad.mit.edu	37	chr12	56565655	56565655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaaatgcaagatgcactCgtcctgtgtgcggcttccca	11	9	10	11	2	0	2	0	0	0	2	3	2	2	2	2	1	3	3	2	1	4	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:56565655C>T	ENST00000394023.3	-	21	2098	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	SMARCC2_ENST00000347471.4_Missense_Mutation_p.E665K|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E634K|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E665K	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	634					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGATGCACTCGTCCTGTGTG	0.542													7	81					0	0	0	0	T	56565655	C	T	56565655	3	4	134	1	0	0	0	0	1	0	0	0	14864	893	31	1	1780	1	SMARCC2	12	56565655	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	2684708	56565655	77286240	164	25507											
STAC3	246329	broad.mit.edu	37	chr12	57642941	57642941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgggggtggctcctcctcctCctcttcttcctcttcctctt	0	17	7	17	0	4	0	0	0	4	0	10	0	10	0	6	3	0	1	6	3	0	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:57642941C>G	ENST00000332782.2	-	3	418	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Missense_Mutation_p.E34Q	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	73	Poly-Glu.				intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						tcctcctcctcctcttcttcc	0.542													25	67					0	0	0	0	G	57642941	C	G	57642941	3	3	134	1	0	0	0	0	1	0	0	0	15331	864	30	2	917	2	STAC3	12	57642941	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	1077286	57642941	76208954	165	25508											
BBS10	79738	broad.mit.edu	37	chr12	76740945	76740945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgaatttagaataaactCtgatccagaagtggaaaaaa	18	11	7	5	0	2	4	0	2	2	2	3	5	3	5	1	1	1	0	1	1	9	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:76740945C>G	ENST00000393262.3	-	2	903	c.820G>C	c.(820-822)Gag>Cag	p.E274Q		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	274					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AGAATAAACTCTGATCCAGAA	0.368									Bardet-Biedl syndrome				10	44					0	0	0	0	G	76740945	C	G	76740945	3	3	134	1	0	0	0	0	1	0	0	0	1340	922	32	2	1355	2	BBS10	12	76740945	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	19098004	76740945	57110950	166	25509											
PPFIA2	8499	broad.mit.edu	37	chr12	82147853	82147853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggctttcctgggtctcccGaagggtgtctagaagacgat	8	10	14	9	2	2	2	0	0	2	2	4	5	3	2	2	3	0	1	2	3	3	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:82147853G>A	ENST00000550584.2	-	2	443	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	PPFIA2_ENST00000548586.1_Missense_Mutation_p.R50W|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R50W|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R50W|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R50W|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R50W	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	309										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGGGTCTCCCGAAGGGTGTCT	0.527													11	36					0	0	0	0	A	82147853	G	A	82147853	3	1	134	1	0	0	0	0	1	0	0	0	12381	1057	37	1	3745	1	PPFIA2	12	82147853	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	5406908	82147853	51704042	167	25510											
TRPV4	59341	broad.mit.edu	37	chr12	110236715	110236715	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccagcgacaggggcagctCccctgcgggccagggtgaag	8	3	17	13	2	0	1	0	1	0	0	1	2	1	1	4	4	4	2	4	4	1	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:110236715C>A	ENST00000418703.2	-	5	950	c.856G>T	c.(856-858)Gag>Tag	p.E286*	TRPV4_ENST00000392719.2_Nonsense_Mutation_p.E239*|TRPV4_ENST00000544971.1_Nonsense_Mutation_p.E239*|TRPV4_ENST00000537083.1_Nonsense_Mutation_p.E286*|TRPV4_ENST00000541794.1_Nonsense_Mutation_p.E239*|TRPV4_ENST00000346520.2_Nonsense_Mutation_p.E286*|TRPV4_ENST00000536838.1_Nonsense_Mutation_p.E252*|TRPV4_ENST00000261740.2_Nonsense_Mutation_p.E286*	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	286					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGGGGCAGCTCCCCTGCGGGC	0.682													20	58					8.04996e-18	8.81258e-18	1	0	A	110236715	C	A	110236715	4	1	134	1	0	0	0	0	0	1	0	0	16693	864	30	2	1803	2	TRPV4	12	110236715	Nonsense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	28088862	110236715	23615180	168	25511											
VPS33A	65082	broad.mit.edu	37	chr12	122748187	122748187	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaaaaaaattatattcttCacatcagctgccggcaaacg	17	9	5	10	2	3	0	2	0	1	0	3	0	3	0	1	1	3	2	1	1	7	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:122748187C>T	ENST00000267199.4	-	3	340	c.228G>A	c.(226-228)gtG>gtA	p.V76V	RP11-512M8.5_ENST00000535844.1_Silent_p.V76V|VPS33A_ENST00000451053.2_Silent_p.V76V|VPS33A_ENST00000542310.1_5'UTR	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	76					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TTATATTCTTCACATCAGCTG	0.388													10	72					0	0	0	0	T	122748187	C	T	122748187	2	4	134	1	0	0	0	0	0	0	0	1	17297	813	29	2		2	VPS33A	12	122748187	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	12511472	122748187	11103708	169	25512											
ABCB9	23457	broad.mit.edu	37	chr12	123444339	123444339	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggtggccgcccctggCtccagggcctgggtgcctgg	1	7	17	16	2	0	0	0	0	0	0	2	0	1	0	7	6	1	1	7	6	0	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:123444339C>T	ENST00000542678.1	-	2	3282	c.444G>A	c.(442-444)gaG>gaA	p.E148E	ABCB9_ENST00000442028.2_Silent_p.E148E|ABCB9_ENST00000442833.2_Silent_p.E148E|ABCB9_ENST00000344275.7_Silent_p.E148E|ABCB9_ENST00000540285.1_Silent_p.E148E|ABCB9_ENST00000280560.8_Silent_p.E148E|ABCB9_ENST00000346530.5_Silent_p.E148E|ABCB9_ENST00000392439.3_Silent_p.E148E			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	148					positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCGCCCCTGGCTCCAGGGCCT	0.692													9	28					0	0	0	0	T	123444339	C	T	123444339	2	4	134	1	0	0	0	0	0	0	0	1	48	796	28	4		4	ABCB9	12	123444339	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	696152	123444339	10407556	170	25513											
GPR133	283383	broad.mit.edu	37	chr12	131593290	131593290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgccaagtgatggccGtgctcctacactacttcttc	6	11	7	17	1	1	1	0	1	1	0	3	1	2	1	5	1	4	1	5	1	3	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:131593290G>A	ENST00000261654.5	+	18	2468	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	GPR133_ENST00000535015.1_Missense_Mutation_p.V669M|GPR133_ENST00000376682.4_Missense_Mutation_p.V323M|GPR133_ENST00000543617.1_Missense_Mutation_p.V156M	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	637					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGTGATGGCCGTGCTCCTACA	0.582													53	197					0	0	0	0	A	131593290	G	A	131593290	3	1	134	1	0	0	0	0	1	0	0	0	6692	1145	40	1	1979	1	GPR133	12	131593290	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	8148951	131593290	2258605	171	25514											
PCDH8	5100	broad.mit.edu	37	chr13	53418853	53418853	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctctgtgcagtactttctCatagacgctctgcagcccca	7	12	8	14	1	3	1	1	0	3	1	5	1	3	1	2	0	4	4	2	0	2	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr13:53418853C>G	ENST00000377942.3	-	3	3258	c.3055G>C	c.(3055-3057)Gag>Cag	p.E1019Q	PCDH8_ENST00000338862.4_Missense_Mutation_p.E922Q	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1019					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGTACTTTCTCATAGACGCTC	0.577													31	98					0	0	0	0	G	53418853	C	G	53418853	3	3	134	1	0	0	0	0	1	0	0	0	11588	835	29	2	161	2	PCDH8	13	53418853	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08		53418853	61751025	172	25515											
RBM26	64062	broad.mit.edu	37	chr13	79940220	79940220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagagagggtggagcaggagGaggctggtgatgaatgccag	12	5	20	4	0	0	3	0	2	0	1	0	7	0	6	1	6	2	2	1	6	2	0	rs143505765		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr13:79940220G>A	ENST00000438737.2	-	8	1686	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S	RBM26_ENST00000267229.7_Missense_Mutation_p.P416S|RBM26_ENST00000438724.1_Missense_Mutation_p.P416S|RBM26_ENST00000461008.1_5'UTR			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	416	Pro-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGAGCAGGAGGAGGCTGGTGA	0.438													27	131					0	0	0	0	A	79940220	G	A	79940220	3	1	134	1	0	0	0	0	1	0	0	0	13208	1174	41	2	1752	2	RBM26	13	79940220	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	26521367	79940220	35229658	173	25516											
MDGA2	161357	broad.mit.edu	37	chr14	47566311	47566311	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggatcatccaccaagagtTtaattgacggtgatgctaaa	14	11	9	7	1	1	3	1	2	0	1	2	4	2	4	2	2	1	2	2	2	5	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:47566311T>C	ENST00000426342.1	-	6	793	c.47A>G	c.(46-48)aAa>aGa	p.K16R	MDGA2_ENST00000439988.2_Missense_Mutation_p.K245R|MDGA2_ENST00000357362.3_Missense_Mutation_p.K16R|MDGA2_ENST00000399232.2_Missense_Mutation_p.K314R	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	245					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CACCAAGAGTTTAATTGACGG	0.403													51	83					0	0	0	0	C	47566311	T	C	47566311	3	2	134	1	0	0	0	0	1	0	0	0	9476	1841	64	5	2184	5	MDGA2	14	47566311	Missense_Mutation	SNP	T	TCGA-CQ-5326-01A-01D-1870-08		47566311	59783229	174	25517											
OTX2	5015	broad.mit.edu	37	chr14	57268748	57268748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcccccaaagtaggaagttGagccagcatatccttgacta	12	9	9	11	0	0	2	0	2	0	0	1	3	1	3	4	1	3	3	4	1	5	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:57268748G>A	ENST00000339475.5	-	5	875	c.599C>T	c.(598-600)tCa>tTa	p.S200L	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.S192L|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.S192L	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	192					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GTAGGAAGTTGAGCCAGCATA	0.527													19	68					0	0	0	0	A	57268748	G	A	57268748	3	1	134	1	0	0	0	0	1	0	0	0	11392	1294	45	2	298	2	OTX2	14	57268748	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	9702437	57268748	50080792	175	25518											
NRXN3	9369	broad.mit.edu	37	chr14	80130178	80130178	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgacatctccatcaaaGaggagagaacccctgtaaat	15	8	8	10	0	2	3	1	1	1	2	3	5	2	4	3	1	1	2	3	1	4	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:80130178G>T	ENST00000281127.7	+	3	1366	c.487G>T	c.(487-489)Gag>Tag	p.E163*	NRXN3_ENST00000557594.1_Nonsense_Mutation_p.E163*|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Nonsense_Mutation_p.E795*|NRXN3_ENST00000335750.5_Nonsense_Mutation_p.E795*|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Nonsense_Mutation_p.E163*	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	163	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)		CTCCATCAAAGAGGAGAGAAC	0.478													8	40					0.000157383	0.000163679	1	0	T	80130178	G	T	80130178	4	4	134	1	0	0	0	0	0	1	0	0	10738	943	33	2	2680	2	NRXN3	14	80130178	Nonsense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	22861430	80130178	27219362	176	25519											
CATSPERB	79820	broad.mit.edu	37	chr14	92136190	92136190	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatacaaaaagtggcttcGgggatgaaataccattccaa	16	8	9	8	1	0	1	0	1	0	0	2	2	1	2	2	3	3	2	2	3	6	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:92136190G>A	ENST00000256343.3	-	14	1411	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	419					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAGTGGCTTCGGGGATGAAAT	0.413													15	35					0	0	0	0	A	92136190	G	A	92136190	4	1	134	1	0	0	0	0	0	1	0	0	2716	1124	39	1	2151	1	CATSPERB	14	92136190	Nonsense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	12006012	92136190	15213350	177	25520											
TUBGCP4	27229	broad.mit.edu	37	chr15	43687329	43687329	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaagttgatggtagaaGaatccgatttactgggtcag	11	12	13	5	1	2	3	1	1	1	2	3	5	3	4	1	3	1	2	1	3	5	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:43687329G>T	ENST00000564079.1	+	10	1279	c.1039G>T	c.(1039-1041)Gaa>Taa	p.E347*	TUBGCP4_ENST00000399460.3_Nonsense_Mutation_p.E211*|TUBGCP4_ENST00000260383.7_Nonsense_Mutation_p.E347*	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	347					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GATGGTAGAAGAATCCGATTT	0.413													36	160					4.62619e-21	5.11834e-21	1	0	T	43687329	G	T	43687329	4	4	134	1	0	0	0	0	0	1	0	0	16864	943	33	2	1077	2	TUBGCP4	15	43687329	Nonsense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08		43687329	58844063	178	25521											
SERF2	10169	broad.mit.edu	37	chr15	44085799	44085799	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtacagcagccaaacgctGaacttagtcccatccacttc	12	8	7	14	1	0	1	0	1	0	0	3	2	2	1	3	0	5	3	3	0	4	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:44085799G>T	ENST00000409960.2	+	3	189	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	SERF2_ENST00000409614.1_Intron|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000403425.1_Intron|SERF2_ENST00000381359.1_Intron|SERF2_ENST00000402131.1_Intron|SERF2_ENST00000339624.5_Intron|SERF2_ENST00000249786.4_Intron|SERF2_ENST00000594896.1_Intron|RP11-296A16.1_ENST00000417761.2_Intron	NM_001199875.1	NP_001186804.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	0						cytosol|nucleus				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GCCAAACGCTGAACTTAGTCC	0.542													5	23					0.000602214	0.000620102	1	0	T	44085799	G	T	44085799	4	4	134	1	0	0	0	0	0	1	0	0	14163	1305	45	2		2	SERF2	15	44085799	Nonsense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	398470	44085799	58445593	179	25522											
FSD2	123722	broad.mit.edu	37	chr15	83455869	83455869	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttctgggtatgttttcatCaacaaactcatcccctaatt	10	16	5	10	0	4	0	3	0	1	0	5	0	5	0	2	1	2	3	2	1	4	6			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:83455869C>G	ENST00000334574.8	-	2	455	c.274G>C	c.(274-276)Gat>Cat	p.D92H	FSD2_ENST00000541889.1_Missense_Mutation_p.D92H			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	92										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						ATGTTTTCATCAACAAACTCA	0.448													35	118					0	0	0	0	G	83455869	C	G	83455869	3	3	134	1	0	0	0	0	1	0	0	0	6119	826	29	2	2023	2	FSD2	15	83455869	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	39370070	83455869	19075523	180	25523											
FSD2	123722	broad.mit.edu	37	chr15	83455949	83455949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacttcctcttgaaggtctCtttgagccttaccatcccct	6	14	5	16	0	2	2	0	2	2	0	5	2	4	2	6	1	2	0	6	1	2	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:83455949C>G	ENST00000334574.8	-	2	375	c.194G>C	c.(193-195)aGa>aCa	p.R65T	FSD2_ENST00000541889.1_Missense_Mutation_p.R65T			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	65										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TTGAAGGTCTCTTTGAGCCTT	0.438													44	127					0	0	0	0	G	83455949	C	G	83455949	3	3	134	1	0	0	0	0	1	0	0	0	6119	913	32	2	2103	2	FSD2	15	83455949	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	80	83455949	19075443	181	25524											
FES	2242	broad.mit.edu	37	chr15	91428286	91428286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacagcactatgggcttctCttccgagctgtgcagccccc	7	9	10	15	1	1	0	0	0	1	0	3	2	2	0	3	1	5	4	3	1	2	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:91428286C>T	ENST00000328850.3	+	2	153	c.11C>T	c.(10-12)tCt>tTt	p.S4F	FES_ENST00000450438.2_Missense_Mutation_p.S4F|FES_ENST00000444422.2_Missense_Mutation_p.S4F|FES_ENST00000394300.3_Missense_Mutation_p.S4F|FES_ENST00000394302.1_Missense_Mutation_p.S4F|FES_ENST00000414248.2_Missense_Mutation_p.S4F	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	4	FCH.|Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGGGCTTCTCTTCCGAGCTG	0.632													56	206					0	0	0	0	T	91428286	C	T	91428286	3	4	134	1	0	0	0	0	1	0	0	0	5865	913	32	2	13	2	FES	15	91428286	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	7972337	91428286	11103106	182	25525											
WDR90	197335	broad.mit.edu	37	chr16	716348	716348	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatctgtgtcacgtgcaaaGaggtaaagcagccccaagag	13	6	11	11	1	2	2	1	0	1	2	2	2	2	2	3	1	3	3	3	1	4	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:716348G>C	ENST00000549091.1	+	37	4836	c.4744G>C	c.(4744-4746)Gag>Cag	p.E1582Q	WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000315764.4_Missense_Mutation_p.E179Q|WDR90_ENST00000293879.4_Missense_Mutation_p.E1580Q|WDR90_ENST00000547944.1_Missense_Mutation_p.E179Q	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1580										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CACGTGCAAAGAGGTAAAGCA	0.637													13	118					0	0	0	0	C	716348	G	C	716348	3	2	134	1	0	0	0	0	1	0	0	0	17433	943	33	2	4884	2	WDR90	16	716348	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08		716348	89638405	183	25526											
IGFALS	3483	broad.mit.edu	37	chr16	1840972	1840972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgtccagccagaaggcccGctgcagggggcccagggcgt	7	3	17	14	3	0	1	0	0	0	1	1	2	1	1	4	4	2	2	4	4	1	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:1840972G>A	ENST00000415638.3	-	2	1640	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W	IGFALS_ENST00000215539.3_Missense_Mutation_p.R483W	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	483					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CAGAAGGCCCGCTGCAGGGGG	0.697													12	24					0	0	0	0	A	1840972	G	A	1840972	3	1	134	1	0	0	0	0	1	0	0	0	7630	1086	38	1	374	1	IGFALS	16	1840972	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	1124624	1840972	88513781	184	25527											
TBL3	10607	broad.mit.edu	37	chr16	2025598	2025598	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcccagccgccgggccctGggcaggagctgacccactgc	6	3	15	17	2	0	1	0	1	0	0	0	2	0	2	5	4	3	2	5	4	0	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:2025598G>C	ENST00000568546.1	+	10	1002	c.874G>C	c.(874-876)Ggg>Cgg	p.G292R		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	292					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GCCGGGCCCTGGGCAGGAGCT	0.697													7	24					0	0	0	0	C	2025598	G	C	2025598	3	2	134	1	0	0	0	0	1	0	0	0	15737	1348	47	4	912	4	TBL3	16	2025598	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	184626	2025598	88329155	185	25528											
SRRM2	23524	broad.mit.edu	37	chr16	2812868	2812868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctttgaggcgcagcctttCagggtcttccccatgcccta	5	12	10	14	1	3	1	1	1	2	0	4	1	4	1	4	2	2	1	4	2	1	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:2812868C>T	ENST00000301740.8	+	11	2888	c.2339C>T	c.(2338-2340)tCa>tTa	p.S780L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	780	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGCAGCCTTTCAGGGTCTTCC	0.517													69	337					0	0	0	0	T	2812868	C	T	2812868	3	4	134	1	0	0	0	0	1	0	0	0	15259	838	29	2	2377	2	SRRM2	16	2812868	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	787270	2812868	87541885	186	25529											
TMEM186	25880	broad.mit.edu	37	chr16	8890280	8890280	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcatcaaaacggtaaaacatCcagaatttctcagtctctgc	14	10	6	11	1	3	1	2	0	2	1	6	1	4	1	1	1	3	2	1	1	5	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:8890280C>G	ENST00000333050.6	-	2	204	c.171G>C	c.(169-171)tgG>tgC	p.W57C	TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	57						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GGTAAAACATCCAGAATTTCT	0.522													26	209					0	0	0	0	G	8890280	C	G	8890280	3	3	134	1	0	0	0	0	1	0	0	0	16202	856	30	2	474	2	TMEM186	16	8890280	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	6077412	8890280	81464473	187	25530											
CPPED1	55313	broad.mit.edu	37	chr16	12758885	12758885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtctctgcccagctggcatCcaatggcagatgacaccacc	9	7	10	15	0	1	2	0	1	1	1	3	2	2	2	4	3	2	3	4	3	1	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:12758885C>T	ENST00000381774.4	-	4	1043	c.803G>A	c.(802-804)gGa>gAa	p.G268E	CPPED1_ENST00000433677.2_Missense_Mutation_p.G126E|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	268							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CAGCTGGCATCCAATGGCAGA	0.562													7	86					0	0	0	0	T	12758885	C	T	12758885	3	4	134	1	0	0	0	0	1	0	0	0	3852	855	30	2	145	2	CPPED1	16	12758885	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	3868605	12758885	77595868	188	25531											
UMOD	7369	broad.mit.edu	37	chr16	20348623	20348623	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaactcacaggcttgcacTtttcattcatggtgtcacag	9	13	8	11	0	5	0	5	0	0	0	5	0	5	0	0	2	2	2	0	2	1	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:20348623T>C	ENST00000396134.2	-	9	1952	c.1829A>G	c.(1828-1830)aAg>aGg	p.K610R	UMOD_ENST00000396142.2_Missense_Mutation_p.K577R|UMOD_ENST00000302509.4_Missense_Mutation_p.K577R|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396138.4_Missense_Mutation_p.K626R|UMOD_ENST00000424589.1_Missense_Mutation_p.K610R|UMOD_ENST00000570689.1_Missense_Mutation_p.K577R	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	577					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGCTTGCACTTTTCATTCAT	0.473													13	28					0	0	0	0	C	20348623	T	C	20348623	3	2	134	1	0	0	0	0	1	0	0	0	17075	1609	56	5	208	5	UMOD	16	20348623	Missense_Mutation	SNP	T	TCGA-CQ-5326-01A-01D-1870-08	7589738	20348623	70006130	189	25532											
IRX5	10265	broad.mit.edu	37	chr16	54966471	54966471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtaccatccttacgcggCgcccctgggatcgtaccctt	5	9	12	15	4	0	0	0	0	0	0	2	1	1	1	5	4	3	2	5	4	3	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:54966471C>T	ENST00000394636.4	+	2	648	c.311C>T	c.(310-312)gCg>gTg	p.A104V	IRX5_ENST00000558597.1_Missense_Mutation_p.A38V|IRX5_ENST00000320990.5_Missense_Mutation_p.A104V|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	104					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCTTACGCGGCGCCCCTGGGA	0.662													14	49					0	0	0	0	T	54966471	C	T	54966471	3	4	134	1	0	0	0	0	1	0	0	0	7900	768	27	1	317	1	IRX5	16	54966471	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	34617848	54966471	35388282	190	25533											
CES1	1066	broad.mit.edu	37	chr16	55844472	55844472	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagatgggacaccaaacatCacatctgctatcaagtccag	15	7	7	12	0	3	1	2	0	1	1	4	2	4	2	2	1	2	1	2	1	3	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:55844472C>G	ENST00000422046.2	-	11	1550	c.1269G>C	c.(1267-1269)gtG>gtC	p.V423V	CES1_ENST00000361503.4_Silent_p.V424V|CES1_ENST00000360526.3_Silent_p.V425V			P23141	EST1_HUMAN	carboxylesterase 1	424					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)	CACCAAACATCACATCTGCTA	0.498													35	112					0	0	0	0	G	55844472	C	G	55844472	2	3	134	1	0	0	0	0	0	0	0	1	3298	813	29	2		2	CES1	16	55844472	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	878001	55844472	34510281	191	25534											
SF3B3	23450	broad.mit.edu	37	chr16	70597814	70597814	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagctcggtgctgtcttcaAtcaagtagccttcccactgc	8	11	9	13	1	3	0	2	0	1	0	5	1	4	0	2	1	4	3	2	1	4	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:70597814A>G	ENST00000302516.5	+	18	2535	c.2324A>G	c.(2323-2325)aAt>aGt	p.N775S		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	775					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCTGTCTTCAATCAAGTAGCC	0.428													38	85					0	0	0	0	G	70597814	A	G	70597814	3	3	134	1	0	0	0	0	1	0	0	0	14239	101	4	5	2390	5	SF3B3	16	70597814	Missense_Mutation	SNP	A	TCGA-CQ-5326-01A-01D-1870-08	14753342	70597814	19756939	192	25535											
KARS	3735	broad.mit.edu	37	chr16	75674163	75674163	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagtcagtgagtgagaTgtctacatggaacttgtgtg	11	12	14	4	0	2	3	1	3	1	1	2	6	2	4	0	1	2	0	0	1	3	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:75674163T>A	ENST00000319410.5	-	4	512	c.391A>T	c.(391-393)Atc>Ttc	p.I131F	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.I103F	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	103					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GTGAGTGAGATGTCTACATGG	0.448													68	238					0	0	0	0	A	75674163	T	A	75674163	3	1	134	1	0	0	0	0	1	0	0	0	8033	1464	51	5	1534	5	KARS	16	75674163	Missense_Mutation	SNP	T	TCGA-CQ-5326-01A-01D-1870-08	5076349	75674163	14680590	193	25536											
RPA1	6117	broad.mit.edu	37	chr17	1787118	1787118	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttcaggtttgacgcagaAggacaagccttagatggtgt	10	12	13	6	1	1	3	1	1	0	2	1	4	1	4	1	3	1	3	1	3	3	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:1787118A>G	ENST00000254719.5	+	13	1364	c.1254A>G	c.(1252-1254)gaA>gaG	p.E418E		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	418					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TTGACGCAGAAGGACAAGCCT	0.488								Nucleotide excision repair (NER)					40	124					0	0	0	0	G	1787118	A	G	1787118	2	3	134	1	0	0	0	0	0	0	0	1	13621	69	3	5		5	RPA1	17	1787118	Silent	SNP	A	TCGA-CQ-5326-01A-01D-1870-08		1787118	79408092	194	25537											
TRPV3	162514	broad.mit.edu	37	chr17	3436163	3436163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaggtgatgtccgtctgctCgtgctccatcagcagctgca	6	10	12	13	3	2	1	1	1	1	0	5	2	4	1	2	1	5	5	2	1	0	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:3436163C>T	ENST00000301365.4	-	8	984	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TRPV3_ENST00000576742.1_Missense_Mutation_p.E285K|TRPV3_ENST00000572519.1_Missense_Mutation_p.E285K			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	285						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TCCGTCTGCTCGTGCTCCATC	0.602													11	20					0	0	0	0	T	3436163	C	T	3436163	3	4	134	1	0	0	0	0	1	0	0	0	16692	893	31	1	1563	1	TRPV3	17	3436163	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	1649045	3436163	77759047	195	25538											
TP53	7157	broad.mit.edu	37	chr17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgatgatggtgaggatgggCctccggttcatgccgcccat	6	10	15	10	2	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	0	1	rs28934571		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:7577534C>A	ENST00000420246.2	-	7	879	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000269305.4_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGAGGATGGGCCTCCGGTTCA	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	47					0.000422831	0.000438284	1	0	A	7577534	C	A	7577534	3	1	134	1	0	0	0	0	1	0	0	0	16476	738	26	4	543	4	TP53	17	7577534	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	4141371	7577534	73617676	196	25539											
TP53	7157	broad.mit.edu	37	chr17	7579698	7579698	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagcccaacccttgtccttAccagaacgttgttttcagga	9	11	7	14	1	1	1	1	0	0	1	2	2	2	2	5	1	4	2	5	1	3	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:7579698A>C	ENST00000420246.2	-	3	229		c.e3+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTGTCCTTACCAGAACGTT	0.592		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	70					0	0	0	0	C	7579698	A	C	7579698	5	2	134	1	0	0	0	0	0	0	1	0	16476	405	14	5	1208	5	TP53	17	7579698	Splice_Site	SNP	A	TCGA-CQ-5326-01A-01D-1870-08	2164	7579698	73615512	197	25540											
GIT1	28964	broad.mit.edu	37	chr17	27908398	27908398	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatgcccattcttgtgaTctgaacaaaaataaaaatgc	16	12	6	7	0	2	2	0	2	2	0	2	2	2	2	1	0	3	1	1	0	7	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:27908398T>A	ENST00000225394.3	-	7	967	c.718_splice	c.e7-1	p.D240_splice	GIT1_ENST00000581348.1_Splice_Site_p.D240_splice|GIT1_ENST00000394869.3_Splice_Site_p.D240_splice|GIT1_ENST00000579937.1_Splice_Site_p.D240_splice|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	240					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		ATTCTTGTGATCTGAACAAAA	0.547													17	53					0	0	0	0	A	27908398	T	A	27908398	5	1	134	1	0	0	0	0	0	0	1	0	6447	1449	50	5	1653	5	GIT1	17	27908398	Splice_Site	SNP	T	TCGA-CQ-5326-01A-01D-1870-08	20328700	27908398	53286812	198	25541											
CPD	1362	broad.mit.edu	37	chr17	28788939	28788939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaagataagactggaaaGccaatctctaaagcagtcat	17	9	8	7	0	2	2	1	0	1	2	3	3	2	3	1	1	2	2	1	1	7	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:28788939G>A	ENST00000225719.4	+	19	3751	c.3675G>A	c.(3673-3675)aaG>aaA	p.K1225K	CPD_ENST00000543464.2_Silent_p.K978K	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1225	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGACTGGAAAGCCAATCTCTA	0.353													41	109					0	0	0	0	A	28788939	G	A	28788939	2	1	134	1	0	0	0	0	0	0	0	1	3828	962	34	4		4	CPD	17	28788939	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	880541	28788939	52406271	199	25542											
TMEM132E	124842	broad.mit.edu	37	chr17	32964747	32964747	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccatcctcgtcttcctcatCaactgcatcgtttttgtgct	5	16	6	14	2	3	0	2	0	1	0	7	0	5	0	3	0	3	3	3	0	1	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:32964747C>G	ENST00000321639.5	+	10	2779	c.2451C>G	c.(2449-2451)atC>atG	p.I817M		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	817						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCTTCCTCATCAACTGCATCG	0.632													18	98					0	0	0	0	G	32964747	C	G	32964747	3	3	134	1	0	0	0	0	1	0	0	0	16142	816	29	2	2489	2	TMEM132E	17	32964747	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	4175808	32964747	48230463	200	25543											
EIF1	10209	broad.mit.edu	37	chr17	39846111	39846111	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatataagaattcaacagaGaaacggcaggaagaccctta	18	6	8	9	1	1	3	1	0	0	3	1	5	1	4	2	2	2	1	2	2	7	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:39846111G>C	ENST00000469257.1	+	2	259	c.113G>C	c.(112-114)aGa>aCa	p.R38T	EIF1_ENST00000310837.4_Intron|EIF1_ENST00000591776.1_Missense_Mutation_p.R38T|JUP_ENST00000540235.1_Intron			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1	38					regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATTCAACAGAGAAACGGCAGG	0.423											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	60					0	0	0	0	C	39846111	G	C	39846111	3	2	134	1	0	0	0	0	1	0	0	0	5026	942	33	2	119	2	EIF1	17	39846111	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	6881364	39846111	41349099	201	25544											
CNTNAP1	8506	broad.mit.edu	37	chr17	40843268	40843268	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtctggaccggagctgtgtgGaccctgccttgtactgcaac	6	10	13	12	1	1	0	0	0	1	0	1	3	1	3	3	3	5	3	3	3	2	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:40843268G>C	ENST00000264638.4	+	14	2390	c.2173G>C	c.(2173-2175)Gac>Cac	p.D725H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	725	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GAGCTGTGTGGACCCTGCCTT	0.612													22	179					0	0	0	0	C	40843268	G	C	40843268	3	2	134	1	0	0	0	0	1	0	0	0	3676	1174	41	2	2227	2	CNTNAP1	17	40843268	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	997157	40843268	40351942	202	25545											
AOC3	8639	broad.mit.edu	37	chr17	41008480	41008480	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggatgctggggcctgcgaGgtcaaccccctagcttgcct	6	8	13	14	1	1	0	1	0	0	0	1	2	1	1	4	4	5	2	4	4	2	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:41008480G>C	ENST00000308423.2	+	4	2365	c.2205G>C	c.(2203-2205)gaG>gaC	p.E735D	AOC3_ENST00000591562.1_Missense_Mutation_p.E192D	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	735					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGGCCTGCGAGGTCAACCCCC	0.622													8	30					0	0	0	0	C	41008480	G	C	41008480	3	2	134	1	0	0	0	0	1	0	0	0	729	991	35	4	2219	4	AOC3	17	41008480	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	165212	41008480	40186730	203	25546											
BRCA1	672	broad.mit.edu	37	chr17	41256889	41256889	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatattcaacacttacactcCaaacctgtgtcaagctgaaa	15	10	5	11	0	2	1	2	1	0	0	3	2	3	1	2	0	4	1	2	0	6	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:41256889C>T	ENST00000357654.3	-	5	415	c.297G>A	c.(295-297)ttG>ttA	p.L99L	BRCA1_ENST00000471181.2_Silent_p.L99L|BRCA1_ENST00000354071.3_Silent_p.L99L|BRCA1_ENST00000493795.1_Silent_p.L52L|BRCA1_ENST00000468300.1_Silent_p.L99L|BRCA1_ENST00000351666.3_Silent_p.L99L|BRCA1_ENST00000346315.3_Silent_p.L99L|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Silent_p.L99L|BRCA1_ENST00000352993.3_Silent_p.L99L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_5'UTR	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	99					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACTTACACTCCAAACCTGTGT	0.373			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			24	69					0	0	0	0	T	41256889	C	T	41256889	2	4	134	1	0	0	0	0	0	0	0	1	1506	593	21	4		4	BRCA1	17	41256889	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	248409	41256889	39938321	204	25547											
FAM117A	81558	broad.mit.edu	37	chr17	47797212	47797212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctgtgcaggcaggggctGagtcgcaagacaggggaccc	8	5	16	12	1	0	2	0	1	0	1	2	3	1	3	2	5	1	4	2	5	1	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:47797212G>A	ENST00000240364.2	-	5	697	c.618C>T	c.(616-618)ctC>ctT	p.L206L	FAM117A_ENST00000513602.1_5'UTR|RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	206										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GGCAGGGGCTGAGTCGCAAGA	0.602													7	77					0	0	0	0	A	47797212	G	A	47797212	2	1	134	1	0	0	0	0	0	0	0	1	5450	1277	45	2		2	FAM117A	17	47797212	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	6540323	47797212	33397998	205	25548											
CA10	56934	broad.mit.edu	37	chr17	49713219	49713219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagagagaaactcacctgCatcctggttatatagacagg	14	8	9	10	0	1	3	1	0	0	3	2	4	2	3	3	2	2	2	3	2	4	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:49713219C>T	ENST00000451037.2	-	7	1726	c.786G>A	c.(784-786)atG>atA	p.M262I	CA10_ENST00000442502.2_Missense_Mutation_p.M262I|CA10_ENST00000285273.4_Missense_Mutation_p.M262I|CA10_ENST00000570565.1_Missense_Mutation_p.M187I|CA10_ENST00000340813.6_Missense_Mutation_p.M268I|CA10_ENST00000571918.1_5'UTR	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	262					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			AACTCACCTGCATCCTGGTTA	0.393													15	43					0	0	0	0	T	49713219	C	T	49713219	3	4	134	1	0	0	0	0	1	0	0	0	2536	710	25	4	212	4	CA10	17	49713219	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	1916007	49713219	31481991	206	25549											
SAP30BP	29115	broad.mit.edu	37	chr17	73698631	73698631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactacattatccaaaggaaGaaagaatttcggaaccctag	18	8	7	8	1	0	2	0	0	0	2	2	4	1	4	2	2	3	0	2	2	9	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:73698631G>A	ENST00000584667.1	+	6	725	c.468G>A	c.(466-468)aaG>aaA	p.K156K	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Silent_p.K140K	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	156					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAAAGGAAGAAAGAATTTC	0.453													15	55					0	0	0	0	A	73698631	G	A	73698631	2	1	134	1	0	0	0	0	0	0	0	1	13920	933	33	2		2	SAP30BP	17	73698631	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	23985412	73698631	7496579	207	25550											
CDK3	1018	broad.mit.edu	37	chr17	73998411	73998411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctgaagccccagaaccTgctcatcaatgagttgggtg	11	8	11	11	0	2	4	2	2	0	2	2	4	2	4	4	1	3	2	4	1	3	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:73998411T>C	ENST00000425876.2	+	4	486	c.398T>C	c.(397-399)cTg>cCg	p.L133P	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.L133P			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	133	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CCCCAGAACCTGCTCATCAAT	0.602													9	53					0	0	0	0	C	73998411	T	C	73998411	3	2	134	1	0	0	0	0	1	0	0	0	3169	1580	55	5	412	5	CDK3	17	73998411	Missense_Mutation	SNP	T	TCGA-CQ-5326-01A-01D-1870-08	299780	73998411	7196799	208	25551											
CCDC57	284001	broad.mit.edu	37	chr17	80151991	80151991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccggcttccttcagagcctCcagctctttgtgcagtagtt	5	13	9	14	1	2	1	1	0	1	1	4	1	4	1	4	1	3	5	4	1	1	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:80151991C>T	ENST00000392347.1	-	5	679	c.643G>A	c.(643-645)Gag>Aag	p.E215K	CCDC57_ENST00000389641.4_Missense_Mutation_p.E215K|CCDC57_ENST00000392343.3_Missense_Mutation_p.E215K	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	215										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TTCAGAGCCTCCAGCTCTTTG	0.517													21	114					0	0	0	0	T	80151991	C	T	80151991	3	4	134	1	0	0	0	0	1	0	0	0	2854	864	30	2	2156	2	CCDC57	17	80151991	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	6153580	80151991	1043219	209	25552											
RIOK3	8780	broad.mit.edu	37	chr18	21047484	21047484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttgtctttcatgcatatgGagggaggtaaatgagcaaaa	13	12	12	4	0	2	1	1	1	1	0	2	3	2	3	0	3	2	4	0	3	5	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr18:21047484G>T	ENST00000339486.3	+	7	1426	c.809G>T	c.(808-810)gGa>gTa	p.G270V	RIOK3_ENST00000581585.1_Missense_Mutation_p.G254V|RIOK3_ENST00000577501.1_Missense_Mutation_p.G270V	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	270	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATGCATATGGAGGGAGGTAA	0.363													17	64					7.05477e-17	7.69611e-17	1	0	T	21047484	G	T	21047484	3	4	134	1	0	0	0	0	1	0	0	0	13464	1174	41	2	835	2	RIOK3	18	21047484	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08		21047484	57029764	210	25553											
TJP3	27134	broad.mit.edu	37	chr19	3747947	3747947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggctacacagacggcgaGggggggccctacacggatgt	9	4	18	10	3	0	1	0	0	0	1	0	4	0	2	1	6	2	1	1	6	2	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:3747947G>T	ENST00000541714.2	+	19	2940	c.2478G>T	c.(2476-2478)gaG>gaT	p.E826D	TJP3_ENST00000262968.9_Missense_Mutation_p.E859D|TJP3_ENST00000589378.1_Missense_Mutation_p.E835D|TJP3_ENST00000539908.2_Missense_Mutation_p.E790D|TJP3_ENST00000382008.3_Missense_Mutation_p.E840D|TJP3_ENST00000587686.1_Missense_Mutation_p.E845D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	840						tight junction	protein binding	p.Y863fs*64(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGACGGCGAGGGGGGGCCCT	0.697													10	16					1.58986e-06	1.67016e-06	1	0	T	3747947	G	T	3747947	3	4	134	1	0	0	0	0	1	0	0	0	16025	991	35	4	2647	4	TJP3	19	3747947	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08		3747947	55381036	211	25554											
COL5A3	50509	broad.mit.edu	37	chr19	10090691	10090691	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggggccctttggcccaggGaatcctggagggccttgcag	5	7	18	11	0	0	0	0	0	0	0	1	2	1	2	4	7	1	1	4	7	1	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:10090691G>A	ENST00000264828.3	-	36	2722	c.2637C>T	c.(2635-2637)ttC>ttT	p.F879F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	879	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTGGCCCAGGGAATCCTGGAG	0.612													5	19					0	0	0	0	A	10090691	G	A	10090691	2	1	134	1	0	0	0	0	0	0	0	1	3728	1165	41	2		2	COL5A3	19	10090691	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	6342744	10090691	49038292	212	25555											
COL5A3	50509	broad.mit.edu	37	chr19	10090711	10090711	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatcctggagggccttgcaGaccagggaggccctgaaatg	10	6	15	10	0	0	2	0	1	0	1	1	5	1	4	4	4	1	1	4	4	2	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:10090711G>A	ENST00000264828.3	-	36	2702	c.2617C>T	c.(2617-2619)Ctg>Ttg	p.L873L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	873	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGCCTTGCAGACCAGGGAGG	0.602													6	16					0	0	0	0	A	10090711	G	A	10090711	2	1	134	1	0	0	0	0	0	0	0	1	3728	933	33	2		2	COL5A3	19	10090711	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	20	10090711	49038272	213	25556											
SMARCA4	6597	broad.mit.edu	37	chr19	11145805	11145805	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgacggagaagcagtggctCaaggtacatgctggagaggc	11	6	16	8	1	1	3	1	1	0	2	1	5	1	3	0	5	3	4	0	5	3	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:11145805C>G	ENST00000358026.2	+	29	4451	c.4167C>G	c.(4165-4167)ctC>ctG	p.L1389L	SMARCA4_ENST00000413806.3_Silent_p.L1356L|SMARCA4_ENST00000450717.3_Silent_p.L1356L|SMARCA4_ENST00000444061.3_Silent_p.L1356L|SMARCA4_ENST00000589677.1_Silent_p.L1356L|SMARCA4_ENST00000429416.3_Silent_p.L1389L|SMARCA4_ENST00000344626.4_Silent_p.L1389L|SMARCA4_ENST00000541122.2_Silent_p.L1356L|SMARCA4_ENST00000590574.1_Silent_p.L1356L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1389					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGCAGTGGCTCAAGGTACATG	0.657			"F, N, Mis"		NSCLC								26	25					0	0	0	0	G	11145805	C	G	11145805	2	3	134	1	0	0	0	0	0	0	0	1	14858	813	29	2		2	SMARCA4	19	11145805	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	1055094	11145805	47983178	214	25557											
SMARCA4	6597	broad.mit.edu	37	chr19	11152041	11152041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtccggcagaagaaatcatCacggaagcgcaagcgagaca	15	3	13	10	4	2	3	2	0	0	3	3	5	3	4	1	3	2	2	1	3	4	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:11152041C>T	ENST00000358026.2	+	31	4609	c.4325C>T	c.(4324-4326)tCa>tTa	p.S1442L	SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1380L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1380L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1377L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1380L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S1410L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1410L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1380L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1377L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1410					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AAGAAATCATCACGGAAGCGC	0.607			"F, N, Mis"		NSCLC								105	61					0	0	0	0	T	11152041	C	T	11152041	3	4	134	1	0	0	0	0	1	0	0	0	14858	838	29	2	4452	2	SMARCA4	19	11152041	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	6236	11152041	47976942	215	25558											
ZNF439	90594	broad.mit.edu	37	chr19	11978656	11978656	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagttattctgctacccatCgaatacatgaaagaactcac	14	12	5	10	1	2	2	1	1	1	1	3	3	2	2	1	0	4	2	1	0	7	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:11978656C>T	ENST00000304030.2	+	3	972	c.772C>T	c.(772-774)Cga>Tga	p.R258*	ZNF439_ENST00000455282.1_Nonsense_Mutation_p.R122*|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TGCTACCCATCGAATACATGA	0.383													64	67					0	0	0	0	T	11978656	C	T	11978656	4	4	134	1	0	0	0	0	0	1	0	0	18006	876	31	1	782	1	ZNF439	19	11978656	Nonsense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	826615	11978656	47150327	216	25559											
ZNF791	163049	broad.mit.edu	37	chr19	12739575	12739575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatcacactggagaaaaacCctatgagtgtaaggaatgtg	17	8	10	6	0	1	2	1	1	0	1	1	4	1	3	1	2	1	1	1	2	6	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:12739575C>T	ENST00000343325.4	+	4	1394	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	ZNF791_ENST00000540038.1_Missense_Mutation_p.P302L|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.P379L	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GGAGAAAAACCCTATGAGTGT	0.393													38	162					0	0	0	0	T	12739575	C	T	12739575	3	4	134	1	0	0	0	0	1	0	0	0	18256	623	22	4	1246	4	ZNF791	19	12739575	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	760919	12739575	46389408	217	25560											
CYP4F3	4051	broad.mit.edu	37	chr19	15769192	15769192	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgtgctcccagacggcCgggtcatccccaaaggtgcc	8	7	11	15	2	1	1	1	0	0	1	3	1	3	1	5	3	2	1	5	3	1	1	rs142036643	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:15769192C>A	ENST00000221307.7	+	10	1282	c.1234C>A	c.(1234-1236)Cgg>Agg	p.R412R	CYP4F3_ENST00000586182.1_Silent_p.R412R|CYP4F3_ENST00000585846.1_Silent_p.R412R|CYP4F3_ENST00000591058.1_Silent_p.R412R	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	412					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCCAGACGGCCGGGTCATCCC	0.642													14	85					0.00185496	0.00190377	1	0	A	15769192	C	A	15769192	2	1	134	1	0	0	0	0	0	0	0	1	4222	643	23	3		3	CYP4F3	19	15769192	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	3029617	15769192	43359791	218	25561											
TMEM59L	25789	broad.mit.edu	37	chr19	18729056	18729056	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctgaagagccacaggaCaatgacttcctcagttgcat	12	9	10	10	0	2	3	1	2	1	1	3	5	3	4	2	1	2	2	2	1	2	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:18729056C>T	ENST00000600490.1	+	7	941	c.756C>T	c.(754-756)gaC>gaT	p.D252D	TMEM59L_ENST00000262817.3_Silent_p.D252D			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	252						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AGCCACAGGACAATGACTTCC	0.627													6	42					0	0	0	0	T	18729056	C	T	18729056	2	4	134	1	0	0	0	0	0	0	0	1	16280	477	17	4		4	TMEM59L	19	18729056	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	2959864	18729056	40399927	219	25562											
ZNF208	7757	broad.mit.edu	37	chr19	22156015	22156015	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcttcacatttgtagggTttctcaccagtatgaattct	9	17	6	9	0	4	1	2	1	3	0	5	1	4	1	1	1	0	3	1	1	3	7			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:22156015T>C	ENST00000397126.4	-	4	1969	c.1821A>G	c.(1819-1821)aaA>aaG	p.K607K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.K507N(2)|p.K607N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTGTAGGGTTTCTCACCAG	0.368													8	74					0	0	0	0	C	22156015	T	C	22156015	2	2	134	1	0	0	0	0	0	0	0	1	17861	1722	60	5		5	ZNF208	19	22156015	Silent	SNP	T	TCGA-CQ-5326-01A-01D-1870-08	3426959	22156015	36972968	220	25563											
YIF1B	90522	broad.mit.edu	37	chr19	38800243	38800243	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaaagctggtgggggtcGgccatgcccggctgggacac	7	6	17	11	3	0	0	0	0	0	0	2	2	0	1	2	6	2	2	2	6	2	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:38800243G>A	ENST00000392124.3	-	1	320	c.6C>T	c.(4-6)gcC>gcT	p.A2A	YIF1B_ENST00000329420.8_Silent_p.A18A|YIF1B_ENST00000592246.1_Silent_p.A2A|YIF1B_ENST00000591755.1_Silent_p.A30A|YIF1B_ENST00000592694.1_Silent_p.A2A|YIF1B_ENST00000591784.1_Silent_p.A2A|YIF1B_ENST00000339413.6_Silent_p.A33A|YIF1B_ENST00000337679.8_Silent_p.A30A|YIF1B_ENST00000587361.1_5'UTR	NM_033557.3	NP_291035.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	33						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGTGGGGGTCGGCCATGCCCG	0.642													4	11					0	0	0	0	A	38800243	G	A	38800243	2	1	134	1	0	0	0	0	0	0	0	1	17572	1103	39	1		1	YIF1B	19	38800243	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	16644228	38800243	20328740	221	25564											
CYP2A7	1549	broad.mit.edu	37	chr19	41387649	41387649	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacacggggccatagcacTcactgaactgatggaggcga	12	6	13	10	2	1	3	1	3	0	0	1	5	1	4	1	4	3	1	1	4	3	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:41387649T>A	ENST00000301146.4	-	2	729	c.188A>T	c.(187-189)gAg>gTg	p.E63V	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	63						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCCATAGCACTCACTGAACTG	0.622													3	15					0	0	0	0	A	41387649	T	A	41387649	3	1	134	1	0	0	0	0	1	0	0	0	4195	1551	54	5	1328	5	CYP2A7	19	41387649	Missense_Mutation	SNP	T	TCGA-CQ-5326-01A-01D-1870-08	2587406	41387649	17741334	222	25565											
CIC	23152	broad.mit.edu	37	chr19	42799110	42799110	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcagccccctggagctGaggctcctctccctgtaccg	5	7	12	17	2	1	1	0	1	1	0	3	3	2	3	5	3	4	4	5	3	1	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:42799110G>T	ENST00000572681.2	+	21	7380	c.7312G>T	c.(7312-7314)Gag>Tag	p.E2438*	CIC_ENST00000160740.3_Nonsense_Mutation_p.E1530*|CIC_ENST00000575354.2_Nonsense_Mutation_p.E1532*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCTGGAGCTGAGGCTCCTCT	0.667			"Mis, F, S"		oligodendroglioma								7	37					0.00448238	0.00458526	1	0	T	42799110	G	T	42799110	4	4	134	1	0	0	0	0	0	1	0	0	3453	1291	45	2	4672	2	CIC	19	42799110	Nonsense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	1411461	42799110	16329873	223	25566											
SIGLEC9	27180	broad.mit.edu	37	chr19	51630370	51630370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgcagttgatgcagttGacagcaatccccctgccagg	8	10	11	12	0	1	2	0	2	1	0	2	2	2	2	3	1	4	5	3	1	1	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:51630370G>T	ENST00000440804.3	+	4	899	c.832G>T	c.(832-834)Gac>Tac	p.D278Y	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.D278Y	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	278	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TGATGCAGTTGACAGCAATCC	0.592													16	124					9.16793e-09	9.76244e-09	1	0	T	51630370	G	T	51630370	3	4	134	1	0	0	0	0	1	0	0	0	14403	1290	45	2	846	2	SIGLEC9	19	51630370	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	8831260	51630370	7498613	224	25567											
LENG1	79165	broad.mit.edu	37	chr19	54662148	54662148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcctctgctgcttcaagctCaggcagtgagttctgatgtc	6	12	11	12	1	4	2	2	2	2	0	5	2	4	2	1	1	3	5	1	1	1	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:54662148C>T	ENST00000222224.3	-	2	370	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	62										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTTCAAGCTCAGGCAGTGAG	0.527													19	118					0	0	0	0	T	54662148	C	T	54662148	3	4	134	1	0	0	0	0	1	0	0	0	8776	835	29	2	622	2	LENG1	19	54662148	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	3031778	54662148	4466835	225	25568											
MCM8	84515	broad.mit.edu	37	chr20	5932702	5932702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaggatttggacgaggaaGatttcaaagctggaaaaggg	15	7	15	4	1	1	2	1	0	0	2	1	7	1	6	0	5	1	1	0	5	4	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:5932702G>A	ENST00000378896.3	+	2	418	c.41G>A	c.(40-42)aGa>aAa	p.R14K	MCM8_ENST00000378883.1_Missense_Mutation_p.R14K|MCM8_ENST00000265187.4_Missense_Mutation_p.R14K|MCM8_ENST00000378886.2_Missense_Mutation_p.R14K	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	14					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GGACGAGGAAGATTTCAAAGC	0.413													17	47					0	0	0	0	A	5932702	G	A	5932702	3	1	134	1	0	0	0	0	1	0	0	0	9462	942	33	2	43	2	MCM8	20	5932702	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08		5932702	57092818	226	25569											
RIN2	54453	broad.mit.edu	37	chr20	19937330	19937330	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgcccgggactcaggctAtgacagcctctccaacaggc	8	7	11	15	1	2	1	1	1	1	0	3	2	2	2	3	3	3	1	3	3	2	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:19937330A>G	ENST00000255006.6	+	4	526	c.377A>G	c.(376-378)tAt>tGt	p.Y126C	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.Y77C	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	77	SH2.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GACTCAGGCTATGACAGCCTC	0.587													6	21					0	0	0	0	G	19937330	A	G	19937330	3	3	134	1	0	0	0	0	1	0	0	0	13457	449	16	5	240	5	RIN2	20	19937330	Missense_Mutation	SNP	A	TCGA-CQ-5326-01A-01D-1870-08	14004628	19937330	43088190	227	25570											
DNMT3B	1789	broad.mit.edu	37	chr20	31380492	31380492	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagactcattggaggacCagctgaagcccatgttggag	10	8	14	9	0	1	2	1	1	0	1	1	6	1	5	2	4	2	2	2	4	1	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:31380492C>G	ENST00000328111.2	+	9	1303	c.982C>G	c.(982-984)Cag>Gag	p.Q328E	DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000353855.2_Missense_Mutation_p.Q328E|DNMT3B_ENST00000348286.2_Missense_Mutation_p.Q328E|DNMT3B_ENST00000344505.4_Missense_Mutation_p.Q328E|DNMT3B_ENST00000201963.3_Missense_Mutation_p.Q340E|DNMT3B_ENST00000456297.2_Missense_Mutation_p.Q252E|DNMT3B_ENST00000443239.3_Missense_Mutation_p.Q286E	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	328					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTGGAGGACCAGCTGAAGCC	0.612													22	64					0	0	0	0	G	31380492	C	G	31380492	3	3	134	1	0	0	0	0	1	0	0	0	4713	595	21	4	1052	4	DNMT3B	20	31380492	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	11443162	31380492	31645028	228	25571											
RBL1	5933	broad.mit.edu	37	chr20	35695270	35695270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccgtaaagtcagcagtatGaaaatcagatggtaaaccta	17	8	9	7	1	2	2	2	1	0	1	2	2	2	2	2	1	3	4	2	1	8	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:35695270G>A	ENST00000373664.3	-	6	769	c.703C>T	c.(703-705)Cat>Tat	p.H235Y	RBL1_ENST00000344359.3_Missense_Mutation_p.H235Y	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	235					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCAGCAGTATGAAAATCAGAT	0.383													20	72					0	0	0	0	A	35695270	G	A	35695270	3	1	134	1	0	0	0	0	1	0	0	0	13191	1290	45	2	2580	2	RBL1	20	35695270	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	4314778	35695270	27330250	229	25572											
NCOA3	8202	broad.mit.edu	37	chr20	46265274	46265274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacaccagcagtataacttCttgtggggacggaaatgttg	12	10	12	7	1	1	1	0	0	1	1	1	3	1	3	1	3	2	3	1	3	3	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:46265274C>T	ENST00000372004.3	+	12	2360	c.2144C>T	c.(2143-2145)tCt>tTt	p.S715F	NCOA3_ENST00000341724.6_Missense_Mutation_p.S725F|NCOA3_ENST00000371997.3_Missense_Mutation_p.S725F|NCOA3_ENST00000371998.3_Missense_Mutation_p.S715F	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	715					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGTATAACTTCTTGTGGGGAC	0.473													22	64					0	0	0	0	T	46265274	C	T	46265274	3	4	134	1	0	0	0	0	1	0	0	0	10300	913	32	2	2212	2	NCOA3	20	46265274	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	10570004	46265274	16760246	230	25573											
PPP1R3D	5509	broad.mit.edu	37	chr20	58514189	58514189	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtggtcgttgttgtcccaGtactcggcacccgccacttg	4	11	12	14	4	0	0	0	0	0	0	3	0	1	0	3	3	1	4	3	3	1	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:58514189G>C	ENST00000370996.3	-	1	1163	c.798C>G	c.(796-798)taC>taG	p.Y266*	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	266	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			TGTTGTCCCAGTACTCGGCAC	0.617													20	35					0	0	0	0	C	58514189	G	C	58514189	4	2	134	1	0	0	0	0	0	1	0	0	12450	1024	36	4	105	4	PPP1R3D	20	58514189	Nonsense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	12248915	58514189	4511331	231	25574											
NTSR1	4923	broad.mit.edu	37	chr20	61386205	61386205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccatcgagcctggcaggGtccaggccctgcggcacggc	5	5	16	15	3	0	0	0	0	0	0	2	1	1	0	4	6	2	2	4	6	0	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:61386205G>A	ENST00000370501.3	+	2	1254	c.883G>A	c.(883-885)Gtc>Atc	p.V295I		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	295						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCTGGCAGGGTCCAGGCCCT	0.692													9	28					0	0	0	0	A	61386205	G	A	61386205	3	1	134	1	0	0	0	0	1	0	0	0	10781	1261	44	4	889	4	NTSR1	20	61386205	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	2872016	61386205	1639315	232	25575											
ARFGAP1	55738	broad.mit.edu	37	chr20	61917778	61917778	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttttttcggggaaagcaGagggccccttggacaggtat	8	11	13	9	1	0	1	0	0	0	1	1	3	0	3	3	5	1	2	3	5	2	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:61917778G>C	ENST00000370275.4	+	13	1226	c.1134G>C	c.(1132-1134)caG>caC	p.Q378H	ARFGAP1_ENST00000370283.4_Missense_Mutation_p.E299Q|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E233Q|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E254Q|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.E186Q|ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E307Q			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	0					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GGGGAAAGCAGAGGGCCCCTT	0.627													5	32					0	0	0	0	C	61917778	G	C	61917778	3	2	134	1	0	0	0	0	1	0	0	0	851	943	33	2	971	2	ARFGAP1	20	61917778	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	531573	61917778	1107742	233	25576											
NPBWR2	2832	broad.mit.edu	37	chr20	62738005	62738005	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgacggccgtgttgccagtCagccccacagcacagatccc	9	6	10	16	2	1	2	1	1	0	1	2	2	2	2	5	1	3	2	5	1	0	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:62738005C>G	ENST00000369768.1	-	1	519	c.180G>C	c.(178-180)ctG>ctC	p.L60L		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	60						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TGTTGCCAGTCAGCCCCACAG	0.607													17	35					0	0	0	0	G	62738005	C	G	62738005	2	3	134	1	0	0	0	0	0	0	0	1	10639	813	29	2		2	NPBWR2	20	62738005	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	820227	62738005	287515	234	25577											
GART	2618	broad.mit.edu	37	chr21	34903798	34903798	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgaatatacataccgaCacctcttctccgtcaagaag	15	9	6	11	2	3	3	1	1	2	2	4	4	3	3	3	0	2	0	3	0	7	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr21:34903798C>T	ENST00000381831.3	-	6	857	c.594G>A	c.(592-594)gtG>gtA	p.V198V	GART_ENST00000361093.5_Silent_p.V198V|GART_ENST00000381839.3_Silent_p.V198V|GART_ENST00000497313.1_5'UTR|GART_ENST00000381815.4_Silent_p.V198V	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	198	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TACATACCGACACCTCTTCTC	0.363													39	195					0	0	0	0	T	34903798	C	T	34903798	2	4	134	1	0	0	0	0	0	0	0	1	6292	465	17	4		4	GART	21	34903798	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08		34903798	13226097	235	25578											
ITSN1	6453	broad.mit.edu	37	chr21	35093561	35093561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatagtttaaagccaatatCtggattcattactggtaatc	13	14	6	8	0	2	0	1	0	1	0	3	1	2	1	2	2	2	2	2	2	7	7			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr21:35093561C>G	ENST00000381318.3	+	3	395	c.107C>G	c.(106-108)tCt>tGt	p.S36C	ITSN1_ENST00000399353.1_Missense_Mutation_p.S36C|ITSN1_ENST00000399352.1_Missense_Mutation_p.S36C|ITSN1_ENST00000379960.5_Missense_Mutation_p.S36C|ITSN1_ENST00000399338.4_Missense_Mutation_p.S36C|ITSN1_ENST00000381285.4_Missense_Mutation_p.S36C|ITSN1_ENST00000399349.1_Missense_Mutation_p.S36C|ITSN1_ENST00000399326.3_Missense_Mutation_p.S36C|ITSN1_ENST00000399367.3_Missense_Mutation_p.S36C|ITSN1_ENST00000381291.4_Missense_Mutation_p.S36C|ITSN1_ENST00000399355.2_Missense_Mutation_p.S36C|ITSN1_ENST00000437442.2_Missense_Mutation_p.S36C|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	36	EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AAGCCAATATCTGGATTCATT	0.398													19	68					0	0	0	0	G	35093561	C	G	35093561	3	3	134	1	0	0	0	0	1	0	0	0	7979	913	32	2	113	2	ITSN1	21	35093561	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	189763	35093561	13036334	236	25579											
LSS	4047	broad.mit.edu	37	chr21	47626622	47626623	+	Frame_Shift_Ins	INS	-	-	C																															ttcagcagctccagcaagtgINSccccccacgcttggtctcat																										TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr21:47626622_47626623insC	ENST00000397728.3	-	16	1605_1606	c.1527_1528insG	c.(1525-1530)ggacttfs	p.L510fs	LSS_ENST00000522411.1_Frame_Shift_Ins_p.L499fs|LSS_ENST00000356396.4_Frame_Shift_Ins_p.L510fs|LSS_ENST00000457828.2_Frame_Shift_Ins_p.L430fs	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	510					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCCAGCAAGTGCCCCCCACGCT	0.599													24	56	---	---	---	---					C	47626623	-	C	47626622	7	5	134	1	0	1	1	0	0	0	0	0	9129	1319	46	0	698	0	LSS	21	47626622	Frame_Shift_Ins	INS	-	TCGA-CQ-5326-01A-01D-1870-08	12533061	47626622	503273	237	25580											
SERPIND1	3053	broad.mit.edu	37	chr22	21133697	21133697	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atcagctagagaaaggagggGaaactgctcagtctgcagat	14	7	13	7	0	3	2	2	0	1	2	3	5	3	4	0	3	4	3	0	3	3	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:21133697G>C	ENST00000215727.5	+	2	380	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.E33Q|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	33					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)	GAAAGGAGGGGAAACTGCTCA	0.493													9	65					0	0	0	0	C	21133697	G	C	21133697	3	2	134	1	0	0	0	0	1	0	0	0	14197	1175	41	2	99	2	SERPIND1	22	21133697	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08		21133697	30170869	238	25581											
RNF185	91445	broad.mit.edu	37	chr22	31592944	31592944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagacccctcctcgtcctCaaggacagaggccagagccg	11	4	11	15	2	1	4	1	0	0	4	4	5	3	5	6	2	1	0	6	2	2	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:31592944C>G	ENST00000326132.5	+	5	490	c.331C>G	c.(331-333)Caa>Gaa	p.Q111E	RNF185_ENST00000426256.2_Missense_Mutation_p.Q49E|RNF185_ENST00000266252.7_Intron	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	111						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TCCTCGTCCTCAAGGACAGAG	0.458													14	104					0	0	0	0	G	31592944	C	G	31592944	3	3	134	1	0	0	0	0	1	0	0	0	13553	827	29	2	345	2	RNF185	22	31592944	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	10459247	31592944	19711622	239	25582											
DEPDC5	9681	broad.mit.edu	37	chr22	32289694	32289694	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatgcagcctttgagatcaAgctgcactggatggcggtga	10	9	14	8	1	1	2	1	2	0	1	1	5	1	3	1	3	4	3	1	3	2	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:32289694A>T	ENST00000400246.1	+	39	4302	c.4160A>T	c.(4159-4161)aAg>aTg	p.K1387M	DEPDC5_ENST00000535622.1_Missense_Mutation_p.K1287M|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000400248.1_Missense_Mutation_p.K1356M|DEPDC5_ENST00000539165.1_Missense_Mutation_p.K204M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.K1387M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.K1365M|DEPDC5_ENST00000382112.3_Missense_Mutation_p.K1378M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.K1356M			O75140	DEPD5_HUMAN	DEP domain containing 5	1356					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTTGAGATCAAGCTGCACTGG	0.537													29	61					0	0	0	0	T	32289694	A	T	32289694	3	4	134	1	0	0	0	0	1	0	0	0	4479	72	3	5	4301	5	DEPDC5	22	32289694	Missense_Mutation	SNP	A	TCGA-CQ-5326-01A-01D-1870-08	696750	32289694	19014872	240	25583											
MGAT3	4248	broad.mit.edu	37	chr22	39883475	39883475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccgagaactggcctccctCagccctaacctggtgtccag	7	7	9	18	1	1	1	1	0	0	1	3	2	3	1	7	2	3	0	7	2	2	1	rs145462426	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:39883475C>T	ENST00000341184.6	+	2	338	c.123C>T	c.(121-123)ctC>ctT	p.L41L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	41	Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGGCCTCCCTCAGCCCTAACC	0.602													66	300					0	0	0	0	T	39883475	C	T	39883475	2	4	134	1	0	0	0	0	0	0	0	1	9613	813	29	2		2	MGAT3	22	39883475	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	7593781	39883475	11421091	241	25584											
MGAT3	4248	broad.mit.edu	37	chr22	39884111	39884111	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagccgcggccgctcaagttCcgggagatgctgaccaatgg	8	6	15	12	4	1	2	1	1	0	1	2	4	2	2	4	3	2	3	4	3	2	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:39884111C>G	ENST00000341184.6	+	2	974	c.759C>G	c.(757-759)ttC>ttG	p.F253L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	253					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CGCTCAAGTTCCGGGAGATGC	0.642													16	81					0	0	0	0	G	39884111	C	G	39884111	3	3	134	1	0	0	0	0	1	0	0	0	9613	854	30	2	761	2	MGAT3	22	39884111	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	636	39884111	11420455	242	25585											
EP300	2033	broad.mit.edu	37	chr22	41553402	41553402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagccttggatactgttGtggcagaaaggtaagaaatg	14	9	13	5	0	0	2	0	0	0	2	0	3	0	3	1	3	2	4	1	3	5	4			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:41553402G>A	ENST00000263253.7	+	18	4710	c.3491G>A	c.(3490-3492)tGt>tAt	p.C1164Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1164					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGATACTGTTGTGGCAGAAAG	0.393			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				35	108					0	0	0	0	A	41553402	G	A	41553402	3	1	134	1	0	0	0	0	1	0	0	0	5186	1377	48	4	3561	4	EP300	22	41553402	Missense_Mutation	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	1669291	41553402	9751164	243	25586											
PKDREJ	10343	broad.mit.edu	37	chr22	46657755	46657755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattgaccatttatagaaatCacggcttgcacaatttgtgc	13	13	7	8	1	1	2	1	1	0	1	1	2	1	2	1	1	2	2	1	1	5	6			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:46657755C>T	ENST00000253255.5	-	1	1464	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	489	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTATAGAAATCACGGCTTGCA	0.378													59	293					0	0	0	0	T	46657755	C	T	46657755	3	4	134	1	0	0	0	0	1	0	0	0	12042	826	29	2	5300	2	PKDREJ	22	46657755	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	5104353	46657755	4646811	244	25587											
TBC1D22A	25771	broad.mit.edu	37	chr22	47193380	47193380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctctgcagaggtcccagtCtctcccacactcggccaccg	6	7	8	20	2	2	1	0	0	2	1	6	1	4	1	5	2	1	1	5	2	0	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:47193380C>G	ENST00000337137.4	+	4	666	c.500C>G	c.(499-501)tCt>tGt	p.S167C	TBC1D22A_ENST00000407381.3_Intron|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.S120C|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.S120C	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	167						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGGTCCCAGTCTCTCCCACAC	0.652											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	92					0	0	0	0	G	47193380	C	G	47193380	3	3	134	1	0	0	0	0	1	0	0	0	15702	913	32	2	514	2	TBC1D22A	22	47193380	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	535625	47193380	4111186	245	25588											
SHANK3	85358	broad.mit.edu	37	chr22	51137179	51137179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaggccgcacgggctggttCccggccgactgcgtggagga	7	5	17	12	5	0	0	0	0	0	0	1	3	1	2	3	6	1	3	3	6	1	1			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:51137179C>T	ENST00000414786.2	+	12	1745	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	SHANK3_ENST00000445220.2_Silent_p.F521F|SHANK3_ENST00000262795.3_Silent_p.F536F			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	536										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CGGGCTGGTTCCCGGCCGACT	0.667													10	48					0	0	0	0	T	51137179	C	T	51137179	2	4	134	1	0	0	0	0	0	0	0	1	14354	854	30	2		2	SHANK3	22	51137179	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	3943799	51137179	167387	246	25589											
ARSD	414	broad.mit.edu	37	chrX	2838724	2838724	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagtccacctgagcctgcGttccactgaagggcccggta	7	7	14	13	2	0	2	0	2	0	0	2	3	2	3	5	3	2	2	5	3	2	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:2838724G>A	ENST00000381154.1	-	4	432	c.357C>T	c.(355-357)aaC>aaT	p.N119N	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	119						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGAGCCTGCGTTCCACTGAA	0.527													18	17					0	0	0	0	A	2838724	G	A	2838724	2	1	134	1	0	0	0	0	0	0	0	1	993	1136	40	1		1	ARSD	23	2838724	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08		2838724	152431836	247	25590											
GPKOW	27238	broad.mit.edu	37	chrX	48979986	48979986	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccgagtcggccagccgcctCcgtgcggacgtgcgagtgaa	6	5	15	15	7	0	1	0	1	0	0	2	4	1	2	5	2	3	0	5	2	1	0			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:48979986C>G	ENST00000156109.5	-	1	165	c.87G>C	c.(85-87)cgG>cgC	p.R29R		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	29						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CCAGCCGCCTCCGTGCGGACG	0.622													6	6					0	0	0	0	G	48979986	C	G	48979986	2	3	134	1	0	0	0	0	0	0	0	1	6662	842	30	2		2	GPKOW	23	48979986	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	46141262	48979986	106290574	248	25591											
PGK1	5230	broad.mit.edu	37	chrX	77365367	77365367	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcatctttcttttttagagtCgacttcaatgttcctatgaa	9	18	6	8	1	3	2	1	1	2	1	5	3	4	2	1	0	0	2	1	0	4	7			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:77365367C>G	ENST00000373316.4	+	2	236	c.69C>G	c.(67-69)gtC>gtG	p.V23V	PGK1_ENST00000537456.1_5'UTR|PGK1_ENST00000442431.1_Silent_p.V23V	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	23					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TTTTTAGAGTCGACTTCAATG	0.383													29	47					0	0	0	0	G	77365367	C	G	77365367	2	3	134	1	0	0	0	0	0	0	0	1	11862	871	31	3		3	PGK1	23	77365367	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	28385381	77365367	77905193	249	25592											
DIAPH2	1730	broad.mit.edu	37	chrX	95993660	95993660	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaacatcctattgattctCaagtcgcgatgagtgagttt	10	15	8	8	2	2	3	2	3	1	0	5	4	3	3	1	0	1	1	1	0	3	5			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:95993660C>G	ENST00000324765.8	+	3	588	c.241C>G	c.(241-243)Caa>Gaa	p.Q81E	DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q70E|DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q81E|DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q81E|DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q81E			O60879	DIAP2_HUMAN	diaphanous-related formin 2	81					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TATTGATTCTCAAGTCGCGAT	0.323													20	28					0	0	0	0	G	95993660	C	G	95993660	3	3	134	1	0	0	0	0	1	0	0	0	4556	827	29	2	251	2	DIAPH2	23	95993660	Missense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	18628293	95993660	59276900	250	25593											
NUP62CL	54830	broad.mit.edu	37	chrX	106391016	106391016	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggagtccatatgggcattCagaattctgcagatctggtg	10	11	13	7	0	3	2	1	0	2	2	4	3	4	3	1	3	1	2	1	3	2	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:106391016C>T	ENST00000372466.4	-	8	805	c.554G>A	c.(553-555)tGa>tAa	p.*185*	NUP62CL_ENST00000372461.3_3'UTR	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	0					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						TATGGGCATTCAGAATTCTGC	0.358													39	48					0	0	0	0	T	106391016	C	T	106391016	2	4	134	1	0	0	0	0	0	0	0	1	10840	837	29	2		2	NUP62CL	23	106391016	Silent	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	10397356	106391016	48879544	251	25594											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685629	125685629	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaatgggagcccacggcGtacacagacatatcatcaca	13	6	11	11	2	2	1	2	0	0	1	2	3	2	3	1	3	2	1	1	3	3	2			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:125685629G>A	ENST00000371126.1	-	1	1205	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	321								p.Y321Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCCCACGGCGTACACAGACA	0.597													14	29					0	0	0	0	A	125685629	G	A	125685629	2	1	134	1	0	0	0	0	0	0	0	1	4297	1140	40	1		1	DCAF12L1	23	125685629	Silent	SNP	G	TCGA-CQ-5326-01A-01D-1870-08	19294613	125685629	29584931	252	25595											
OCRL	4952	broad.mit.edu	37	chrX	128710497	128710497	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtatgaaaagaccaatcCgagaagttcctgttaccaaa	15	8	8	10	2	0	3	0	1	0	2	2	4	2	3	5	0	1	3	5	0	7	3			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:128710497C>T	ENST00000371113.4	+	18	2248	c.2083C>T	c.(2083-2085)Cga>Tga	p.R695*	OCRL_ENST00000357121.5_Nonsense_Mutation_p.R695*	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	695					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AAGACCAATCCGAGAAGTTCC	0.403													12	22					0	0	0	0	T	128710497	C	T	128710497	4	4	134	1	0	0	0	0	0	1	0	0	10894	644	23	1	2153	1	OCRL	23	128710497	Nonsense_Mutation	SNP	C	TCGA-CQ-5326-01A-01D-1870-08	3024868	128710497	26560063	253	25596											
MTOR	2475	broad.mit.edu	37	chr1	11187151	11187151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttgacattccctgatttCatgtacttcctgcaccactc	7	15	4	15	0	1	2	1	2	0	0	5	2	4	2	4	0	2	2	4	0	1	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:11187151C>T	ENST00000361445.4	-	45	6343	c.6267G>A	c.(6265-6267)atG>atA	p.M2089I	MTOR_ENST00000376838.1_Missense_Mutation_p.M294I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2089					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCCCTGATTTCATGTACTTCC	0.488													8	38					0	0	0	0	T	11187151	C	T	11187151	3	4	135	1	0	0	0	0	1	0	0	0	10024	826	29	2	1438	2	MTOR	1	11187151	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08		11187151	238063470	1	25597											
EPHA2	1969	broad.mit.edu	37	chr1	16475129	16475130	+	Frame_Shift_Del	DEL	CA	CA	-																															acacggacggagagcagcgcCacacaggcaccgatatcctg																										TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:16475129_16475130delCA	ENST00000358432.5	-	3	720_721	c.566_567delTG	c.(565-567)gfs	p.V189fs	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	189	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGAGCAGCGCCACACAGGCACC	0.644													28	56	---	---	---	---					-	16475130	CA	-	16475129	7	5	135	1	0	1	0	1	0	0	0	0	5205	581	21	0	2423	0	EPHA2	1	16475129	Frame_Shift_Del	DEL	CA	TCGA-CQ-5327-01A-01D-1683-08	5287978	16475129	232775492	2	25598											
PTPRU	10076	broad.mit.edu	37	chr1	29602008	29602008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctgagatccaggcccGtcagctgaccctgcagtggg	6	10	13	12	1	1	2	1	2	0	1	2	3	2	2	3	2	3	3	3	2	0	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:29602008G>A	ENST00000356870.3	+	8	1303	c.1193G>A	c.(1192-1194)cGt>cAt	p.R398H	PTPRU_ENST00000428026.2_Missense_Mutation_p.R398H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R398H|PTPRU_ENST00000345512.3_Missense_Mutation_p.R398H|PTPRU_ENST00000323874.8_Missense_Mutation_p.R398H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R398H	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	398	Fibronectin type-III 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ATCCAGGCCCGTCAGCTGACC	0.567													21	18					0	0	0	0	A	29602008	G	A	29602008	3	1	135	1	0	0	0	0	1	0	0	0	12895	1145	40	1	1223	1	PTPRU	1	29602008	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	13126879	29602008	219648613	3	25599											
CSMD2	114784	broad.mit.edu	37	chr1	34049245	34049245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatttgactgacttaccatCaaaaatctcaaactcatcat	15	12	3	11	0	4	2	4	2	1	0	5	2	4	2	1	0	2	1	1	0	4	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:34049245C>G	ENST00000373381.4	-	47	7413	c.7237G>C	c.(7237-7239)Gat>Cat	p.D2413H		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2415	CUB 14.					integral to membrane|plasma membrane	protein binding	p.D2415fs*1(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACTTACCATCAAAAATCTCA	0.493													20	98					0	0	0	0	G	34049245	C	G	34049245	3	3	135	1	0	0	0	0	1	0	0	0	3977	826	29	2	3308	2	CSMD2	1	34049245	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	4447237	34049245	215201376	4	25600											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43630162	43630162	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgttcgttttccaggtctCttctacagaaaaagacatac	11	14	6	10	1	2	2	0	0	2	2	5	2	3	2	1	1	2	2	1	1	4	7			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:43630162C>T	ENST00000431635.2	-	10	1186	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	EBNA1BP2_ENST00000236051.2_Silent_p.K291K	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	291					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCCAGGTCTCTTCTACAGAA	0.448													12	66					0	0	0	0	T	43630162	C	T	43630162	2	4	135	1	0	0	0	0	0	0	0	1	4921	912	32	2		2	EBNA1BP2	1	43630162	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	9580917	43630162	205620459	5	25601											
CYP4B1	1580	broad.mit.edu	37	chr1	47278285	47278285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgttcactgagtctacacGtatcatgctggtgagctccc	7	12	10	12	2	3	2	2	2	1	0	4	2	4	2	1	1	3	4	1	1	2	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:47278285G>A	ENST00000271153.4	+	4	521	c.485G>A	c.(484-486)cGt>cAt	p.R162H	CYP4B1_ENST00000452782.2_5'UTR|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R162H|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R147H			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	162					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GAGTCTACACGTATCATGCTG	0.572													20	46					0	0	0	0	A	47278285	G	A	47278285	3	1	135	1	0	0	0	0	1	0	0	0	4217	1145	40	1	499	1	CYP4B1	1	47278285	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	3648123	47278285	201972336	6	25602											
GBP2	2634	broad.mit.edu	37	chr1	89579771	89579771	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacttcaatggcctctctCtcactgtccctgtgcaggtc	7	12	8	14	0	3	1	2	0	2	1	7	1	4	1	2	2	1	1	2	2	2	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:89579771C>T	ENST00000370466.3	-	7	1345	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	359					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)		TGGCCTCTCTCTCACTGTCCC	0.502													23	97					0	0	0	0	T	89579771	C	T	89579771	2	4	135	1	0	0	0	0	0	0	0	1	6323	912	32	2		2	GBP2	1	89579771	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	42301486	89579771	159670850	7	25603											
SPAG17	200162	broad.mit.edu	37	chr1	118583431	118583431	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaatttgaccctgagatttGagtgggtatatttcccatat	10	16	9	6	0	0	3	0	3	0	1	1	4	1	3	2	1	0	2	2	1	4	7			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:118583431G>C	ENST00000336338.5	-	22	3153	c.3088C>G	c.(3088-3090)Caa>Gaa	p.Q1030E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1030						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTGAGATTTGAGTGGGTATA	0.363													8	44					0	0	0	0	C	118583431	G	C	118583431	3	2	135	1	0	0	0	0	1	0	0	0	15069	1299	45	2	3691	2	SPAG17	1	118583431	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	29003660	118583431	130667190	8	25604											
PDE4DIP	9659	broad.mit.edu	37	chr1	145015938	145015938	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaatatgtctgcacaaaCgggaccttttcaccacttct	12	11	7	11	1	3	0	1	0	2	0	3	2	3	2	2	2	2	1	2	2	4	4	rs144857876	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:145015938C>T	ENST00000369359.4	-	3	401	c.363G>A	c.(361-363)ccG>ccA	p.P121P	PDE4DIP_ENST00000313382.9_Silent_p.P50P|PDE4DIP_ENST00000478649.2_Silent_p.P50P|PDE4DIP_ENST00000369348.3_Silent_p.P121P|PDE4DIP_ENST00000530740.1_Silent_p.P121P|PDE4DIP_ENST00000493130.2_Silent_p.P50P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.P121P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTGCACAAACGGGACCTTTT	0.443			T	PDGFRB	MPD								29	492					0	0	0	0	T	145015938	C	T	145015938	2	4	135	1	0	0	0	0	0	0	0	1	11714	523	19	1		1	PDE4DIP	1	145015938	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	26432507	145015938	104234683	9	25605											
TCHH	7062	broad.mit.edu	37	chr1	152083791	152083791	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcctgctcctcgctcttCagcagctgctggcgcctctc	2	12	8	19	2	3	0	1	0	2	0	8	0	6	0	4	1	4	5	4	1	0	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:152083791C>T	ENST00000368804.1	-	2	1901	c.1902G>A	c.(1900-1902)ctG>ctA	p.L634L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	634	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCGCTCTTCAGCAGCTGCT	0.672													22	46					0	0	0	0	T	152083791	C	T	152083791	2	4	135	1	0	0	0	0	0	0	0	1	15794	813	29	2		2	TCHH	1	152083791	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	7067853	152083791	97166830	10	25606											
FLG	2312	broad.mit.edu	37	chr1	152277136	152277136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtggtgggatccttgtcttCgtccagtgctggtcctggtc	2	14	14	11	2	1	0	0	0	1	0	6	1	4	1	3	4	1	1	3	4	0	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:152277136C>T	ENST00000368799.1	-	3	10261	c.10226G>A	c.(10225-10227)cGa>cAa	p.R3409Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3409	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTGTCTTCGTCCAGTGCT	0.602									Ichthyosis				53	169					0	0	0	0	T	152277136	C	T	152277136	3	4	135	1	0	0	0	0	1	0	0	0	5967	884	31	1	1963	1	FLG	1	152277136	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	193345	152277136	96973485	11	25607											
SMG5	23381	broad.mit.edu	37	chr1	156233278	156233278	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttcggccatcaggacctGaagcttctcctggatgctgc	7	10	10	14	1	2	1	1	1	1	0	4	3	2	3	4	3	3	2	4	3	1	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:156233278G>A	ENST00000361813.5	-	13	2083	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	647					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					ATCAGGACCTGAAGCTTCTCC	0.602													11	97					0	0	0	0	A	156233278	G	A	156233278	4	1	135	1	0	0	0	0	0	1	0	0	14884	1299	45	2	1151	2	SMG5	1	156233278	Nonsense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	3956142	156233278	93017343	12	25608											
ARHGAP30	257106	broad.mit.edu	37	chr1	161024455	161024455	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgaagcacctctaggatcTtgaccaagcgctcaggttcc	9	8	9	15	2	3	1	1	1	2	0	4	3	4	2	4	2	2	3	4	2	3	3	rs146389701	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:161024455T>C	ENST00000368013.3	-	4	706	c.386A>G	c.(385-387)aAg>aGg	p.K129R	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.K129R|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	129	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCTAGGATCTTGACCAAGCG	0.527													15	60					0	0	0	0	C	161024455	T	C	161024455	3	2	135	1	0	0	0	0	1	0	0	0	881	1609	56	5	2955	5	ARHGAP30	1	161024455	Missense_Mutation	SNP	T	TCGA-CQ-5327-01A-01D-1683-08	4791177	161024455	88226166	13	25609											
NOS1AP	9722	broad.mit.edu	37	chr1	162326887	162326887	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagctcctccagcagctcctCcagcagcagcagcagcagac	10	4	9	18	0	0	1	0	0	0	1	4	1	4	1	4	0	8	8	4	0	0	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:162326887C>G	ENST00000361897.5	+	8	1302	c.900C>G	c.(898-900)ctC>ctG	p.L300L	NOS1AP_ENST00000530878.1_Silent_p.L295L	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	300					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			agcagctcctccagcagcAGC	0.617													13	45					0	0	0	0	G	162326887	C	G	162326887	2	3	135	1	0	0	0	0	0	0	0	1	10612	842	30	2		2	NOS1AP	1	162326887	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	1302432	162326887	86923734	14	25610											
ABL2	27	broad.mit.edu	37	chr1	179084052	179084052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccttaggggggcatccctCaggctgttccattcgatatc	8	11	10	12	1	1	0	1	0	0	0	5	1	3	0	3	4	1	3	3	4	3	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:179084052C>T	ENST00000502732.1	-	9	1725	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	ABL2_ENST00000344730.3_Missense_Mutation_p.E493K|ABL2_ENST00000392043.3_Missense_Mutation_p.E487K|ABL2_ENST00000408940.3_Missense_Mutation_p.E472K|ABL2_ENST00000504405.1_Missense_Mutation_p.E472K|ABL2_ENST00000512653.1_Missense_Mutation_p.E493K|ABL2_ENST00000511413.1_Missense_Mutation_p.E508K|ABL2_ENST00000367623.4_Missense_Mutation_p.E487K|ABL2_ENST00000507173.1_Missense_Mutation_p.E487K	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	508	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGGCATCCCTCAGGCTGTTCC	0.403			T	ETV6	AML								22	72					0	0	0	0	T	179084052	C	T	179084052	3	4	135	1	0	0	0	0	1	0	0	0	93	835	29	2	2087	2	ABL2	1	179084052	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	16757165	179084052	70166569	15	25611											
TMEM183A	92703	broad.mit.edu	37	chr1	202992016	202992016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagcacggacatgcggcatCatcgagtgagactggtgttc	9	9	14	9	3	1	2	1	2	0	1	3	5	1	3	0	3	2	3	0	3	0	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:202992016C>T	ENST00000367242.3	+	8	1059	c.979C>T	c.(979-981)Cat>Tat	p.H327Y		NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			transmembrane protein 183A											endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			CATGCGGCATCATCGAGTGAG	0.488													31	114					0	0	0	0	T	202992016	C	T	202992016	3	4	135	1	0	0	0	0	1	0	0	0	16196	826	29	2	1009	2	TMEM183A	1	202992016	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	23907964	202992016	46258605	16	25612											
AVPR1B	553	broad.mit.edu	37	chr1	206224835	206224835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggccatgacgctggaccGctacctggctgtctgtcacc	5	9	12	15	2	2	1	1	1	1	0	2	2	2	2	4	3	1	4	4	3	1	1	rs41314448		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:206224835G>A	ENST00000367126.4	+	1	860	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	132					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACGCTGGACCGCTACCTGGCT	0.657													15	62					0	0	0	0	A	206224835	G	A	206224835	3	1	135	1	0	0	0	0	1	0	0	0	1236	1087	38	1	397	1	AVPR1B	1	206224835	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	3232819	206224835	43025786	17	25613											
PTPN14	5784	broad.mit.edu	37	chr1	214556663	214556663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacactcaccctgatcatCatctctctctctataatgct	10	13	4	14	0	6	1	3	1	3	0	8	2	6	2	1	1	1	1	1	1	2	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:214556663C>T	ENST00000366956.5	-	13	2729	c.2535G>A	c.(2533-2535)atG>atA	p.M845I	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	845					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCCTGATCATCATCTCTCTCT	0.512													18	61					0	0	0	0	T	214556663	C	T	214556663	3	4	135	1	0	0	0	0	1	0	0	0	12863	826	29	2	1056	2	PTPN14	1	214556663	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	8331828	214556663	34693958	18	25614											
IRF2BP2	359948	broad.mit.edu	37	chr1	234743542	234743543	+	Frame_Shift_Ins	INS	-	-	CC																															tctccgttgatcttagggggINScccgacttcaccttctggtt																										TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:234743542_234743543insCC	ENST00000366609.3	-	2	1134_1135	c.1104_1105insGG	c.(1102-1107)ggccccfs	p.P369fs	IRF2BP2_ENST00000491430.1_5'UTR|IRF2BP2_ENST00000366610.3_Frame_Shift_Ins_p.P353fs|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			ATCTTAGGGGGCCCGACTTCAC	0.52													11	59	---	---	---	---					CC	234743543	-	CC	234743542	7	5	135	1	0	1	1	0	0	0	0	0	7883	1203	42	0	662	0	IRF2BP2	1	234743542	Frame_Shift_Ins	INS	-	TCGA-CQ-5327-01A-01D-1683-08	20186879	234743542	14507079	19	25615											
WDR64	128025	broad.mit.edu	37	chr1	241850813	241850813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgaaaattagatatatttCagccctaaattgttttggat	14	17	6	4	0	1	2	1	1	0	1	1	3	1	3	1	1	1	1	1	1	8	9			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:241850813C>T	ENST00000366552.2	+	7	1067	c.860C>T	c.(859-861)tCa>tTa	p.S287L	WDR64_ENST00000437684.2_Missense_Mutation_p.S287L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	287										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGATATATTTCAGCCCTAAAT	0.343													20	83					0	0	0	0	T	241850813	C	T	241850813	3	4	135	1	0	0	0	0	1	0	0	0	17411	838	29	2	886	2	WDR64	1	241850813	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	7107271	241850813	7399808	20	25616											
ZNF496	84838	broad.mit.edu	37	chr1	247492661	247492661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctccttggtgtgcctctCaggccgcagccagcccccgc	3	8	11	19	2	1	0	1	0	1	0	3	0	2	0	6	2	4	2	6	2	0	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:247492661C>T	ENST00000294753.4	-	3	684	c.220G>A	c.(220-222)Gag>Aag	p.E74K	ZNF496_ENST00000366498.2_Missense_Mutation_p.E74K	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	74	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GTGTGCCTCTCAGGCCGCAGC	0.711													8	29					0	0	0	0	T	247492661	C	T	247492661	3	4	135	1	0	0	0	0	1	0	0	0	18040	835	29	2	1571	2	ZNF496	1	247492661	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	5641848	247492661	1757960	21	25617											
RSAD2	91543	broad.mit.edu	37	chr2	7035928	7035928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcgctttctgaactgtaGaaagggacggaaggaccctt	11	9	13	8	2	1	2	0	1	1	1	1	6	1	5	1	3	2	2	1	3	4	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:7035928G>A	ENST00000382040.3	+	6	1077	c.941G>A	c.(940-942)aGa>aAa	p.R314K	RSAD2_ENST00000541728.1_Missense_Mutation_p.R207K	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	314					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CTGAACTGTAGAAAGGGACGG	0.378													12	50					0	0	0	0	A	7035928	G	A	7035928	3	1	135	1	0	0	0	0	1	0	0	0	13780	942	33	2	963	2	RSAD2	2	7035928	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08		7035928	236163445	22	25618											
NBAS	51594	broad.mit.edu	37	chr2	15519752	15519752	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatccatgcagctatcagtGaggttggtagaagaattgaa	14	10	12	5	0	1	5	1	2	0	3	2	5	2	5	1	2	2	4	1	2	5	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:15519752G>C	ENST00000281513.5	-	30	3589	c.3564C>G	c.(3562-3564)ctC>ctG	p.L1188L	NBAS_ENST00000441750.1_Silent_p.L1068L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1188								p.L1188L(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGCTATCAGTGAGGTTGGTAG	0.428													18	49					0	0	0	0	C	15519752	G	C	15519752	2	2	135	1	0	0	0	0	0	0	0	1	10256	1277	45	2		2	NBAS	2	15519752	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	8483824	15519752	227679621	23	25619											
GPR113	165082	broad.mit.edu	37	chr2	26533572	26533572	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacctacctggagggtgttGagaatggtgaagatgtaatg	11	11	14	5	0	1	3	1	2	0	2	1	5	1	4	2	3	1	2	2	3	4	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:26533572G>C	ENST00000333478.6	-	8	3009	c.2427C>G	c.(2425-2427)ctC>ctG	p.L809L	GPR113_ENST00000541401.1_Silent_p.L611L|GPR113_ENST00000421160.2_Silent_p.L939L|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Silent_p.L1008L	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1008					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGGTGTTGAGAATGGTGA	0.517													6	10					0	0	0	0	C	26533572	G	C	26533572	2	2	135	1	0	0	0	0	0	0	0	1	6679	1277	45	2		2	GPR113	2	26533572	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	11013820	26533572	216665801	24	25620											
GPR113	165082	broad.mit.edu	37	chr2	26533788	26533788	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagcccattcacgcctatGatggccagcactggccccac	9	6	8	18	1	1	1	1	1	0	0	1	1	1	1	6	2	2	1	6	2	1	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:26533788G>A	ENST00000333478.6	-	8	2793	c.2211C>T	c.(2209-2211)atC>atT	p.I737I	GPR113_ENST00000541401.1_Silent_p.I539I|GPR113_ENST00000421160.2_Silent_p.I867I|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Silent_p.I936I	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	936	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACGCCTATGATGGCCAGCA	0.597													9	12					0	0	0	0	A	26533788	G	A	26533788	2	1	135	1	0	0	0	0	0	0	0	1	6679	1280	45	2		2	GPR113	2	26533788	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	216	26533788	216665585	25	25621											
SUPT7L	9913	broad.mit.edu	37	chr2	27880482	27880482	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgtggccactgcctggtaGaggagctgccgacaggagtg	8	8	16	9	1	0	1	0	0	0	1	0	4	0	3	3	4	3	2	3	4	1	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:27880482G>C	ENST00000337768.5	-	4	1043	c.474C>G	c.(472-474)ctC>ctG	p.L158L	SUPT7L_ENST00000464789.2_Silent_p.L156L|SUPT7L_ENST00000406540.1_Silent_p.L156L|SUPT7L_ENST00000405491.1_Silent_p.L156L|SUPT7L_ENST00000404798.2_Silent_p.L23L	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	158					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CTGCCTGGTAGAGGAGCTGCC	0.532													8	30					0	0	0	0	C	27880482	G	C	27880482	2	2	135	1	0	0	0	0	0	0	0	1	15491	929	33	2		2	SUPT7L	2	27880482	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	1346694	27880482	215318891	26	25622											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27907945	27907945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactccctccaactctaatGagaatgaaagatgagcctga	15	8	8	10	0	1	5	0	4	1	2	3	7	3	5	3	0	3	0	3	0	5	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:27907945G>A	ENST00000326019.6	+	10	2199	c.1917G>A	c.(1915-1917)atG>atA	p.M639I		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	639						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CAACTCTAATGAGAATGAAAG	0.413													18	46					0	0	0	0	A	27907945	G	A	27907945	3	1	135	1	0	0	0	0	1	0	0	0	14741	1290	45	2	1955	2	SLC4A1AP	2	27907945	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	27463	27907945	215291428	27	25623											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27907958	27907958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctaatgagaatgaaagatGagcctgaagtagaagaggag	17	7	13	4	0	1	7	0	4	1	4	1	9	1	8	1	1	1	1	1	1	6	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:27907958G>A	ENST00000326019.6	+	10	2212	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	644	Glu-rich.					cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AATGAAAGATGAGCCTGAAGT	0.443													21	42					0	0	0	0	A	27907958	G	A	27907958	3	1	135	1	0	0	0	0	1	0	0	0	14741	1291	45	2	1968	2	SLC4A1AP	2	27907958	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	13	27907958	215291415	28	25624											
LRPPRC	10128	broad.mit.edu	37	chr2	44128664	44128664	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcagtgttgtcacagcctCtaaaatacaagagcaggaga	14	10	9	8	0	3	2	2	0	1	2	3	3	3	2	1	1	3	2	1	1	4	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:44128664C>G	ENST00000260665.7	-	32	3422		c.e32-1			NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing						mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTCACAGCCTCTAAAATACAA	0.433													8	31					0	0	0	0	G	44128664	C	G	44128664	5	3	135	1	0	0	0	0	0	0	1	0	9029	927	32	2	848	2	LRPPRC	2	44128664	Splice_Site	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	16220706	44128664	199070709	29	25625											
CCDC88A	55704	broad.mit.edu	37	chr2	55561402	55561402	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcacattattttcttctAatgtggtatctttaatttct	8	23	3	7	0	6	0	1	0	5	0	6	0	6	0	0	1	0	1	0	1	4	10			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:55561402A>T	ENST00000436346.1	-	15	3396	c.2555T>A	c.(2554-2556)tTa>tAa	p.L852*	CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.L852*|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.L852*|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.L852*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	852					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ATTTTCTTCTAATGTGGTATC	0.323													15	70					0	0	0	0	T	55561402	A	T	55561402	4	4	135	1	0	0	0	0	0	1	0	0	2890	372	13	5	3132	5	CCDC88A	2	55561402	Nonsense_Mutation	SNP	A	TCGA-CQ-5327-01A-01D-1683-08	11432738	55561402	187637971	30	25626											
PCBP1	5093	broad.mit.edu	37	chr2	70315832	70315832	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaattgccaacccagtGgaaggctcctctggtaggca	12	8	10	11	0	2	0	1	0	1	0	3	1	3	1	3	4	2	3	3	4	5	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:70315832G>A	ENST00000303577.5	+	1	1248	c.957G>A	c.(955-957)gtG>gtA	p.V319V	PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	319	KH 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CCAACCCAGTGGAAGGCTCCT	0.512													15	34					0	0	0	0	A	70315832	G	A	70315832	2	1	135	1	0	0	0	0	0	0	0	1	11571	1335	47	4		4	PCBP1	2	70315832	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	14754430	70315832	172883541	31	25627											
FBXO41	150726	broad.mit.edu	37	chr2	73492491	73492491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggccctcagcctctgactCagtggttcgggagccaacgt	6	8	13	14	3	3	1	2	1	1	0	4	2	3	2	3	3	3	1	3	3	1	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:73492491C>T	ENST00000521871.1	-	5	1898	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	FBXO41_ENST00000520530.2_Missense_Mutation_p.E495K|FBXO41_ENST00000295133.5_Missense_Mutation_p.E556K			Q8TF61	FBX41_HUMAN	F-box protein 41	495						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCCTCTGACTCAGTGGTTCGG	0.687													13	40					0	0	0	0	T	73492491	C	T	73492491	3	4	135	1	0	0	0	0	1	0	0	0	5795	835	29	2	1180	2	FBXO41	2	73492491	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	3176659	73492491	169706882	32	25628											
NCAPH	23397	broad.mit.edu	37	chr2	97035190	97035190	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgtcatggctcagaacctCtccatacctctggcttttgc	6	13	7	15	0	4	1	2	0	2	1	5	1	4	1	4	2	3	2	4	2	2	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:97035190C>G	ENST00000455200.1	+	17	2380	c.2085C>G	c.(2083-2085)ctC>ctG	p.L695L	NCAPH_ENST00000240423.4_Silent_p.L706L|NCAPH_ENST00000427946.1_Silent_p.L570L			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	706					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CTCAGAACCTCTCCATACCTC	0.433													33	100					0	0	0	0	G	97035190	C	G	97035190	2	3	135	1	0	0	0	0	0	0	0	1	10279	900	32	2		2	NCAPH	2	97035190	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	23542699	97035190	146164183	33	25629											
NCAPH	23397	broad.mit.edu	37	chr2	97035215	97035215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacctctggcttttgcctgtCtcctacatttagccaatgaa	8	15	6	12	0	2	1	0	1	2	0	3	1	2	1	4	1	4	1	4	1	5	6			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:97035215C>G	ENST00000455200.1	+	17	2405	c.2110C>G	c.(2110-2112)Ctc>Gtc	p.L704V	NCAPH_ENST00000240423.4_Missense_Mutation_p.L715V|NCAPH_ENST00000427946.1_Missense_Mutation_p.L579V			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	715					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TTTTGCCTGTCTCCTACATTT	0.428													34	105					0	0	0	0	G	97035215	C	G	97035215	3	3	135	1	0	0	0	0	1	0	0	0	10279	913	32	2	2209	2	NCAPH	2	97035215	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	25	97035215	146164158	34	25630											
TBC1D8	11138	broad.mit.edu	37	chr2	101624355	101624355	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttgagattgtactgattGatcttggcattttcaagttt	8	20	9	4	0	2	3	1	3	1	1	2	4	2	3	0	1	1	4	0	1	2	9			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:101624355G>A	ENST00000409318.1	-	20	3526	c.3396C>T	c.(3394-3396)atC>atT	p.I1132I	RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409650.1_Intron|TBC1D8_ENST00000376840.4_Silent_p.I1117I	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1117					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TGTACTGATTGATCTTGGCAT	0.383													39	129					0	0	0	0	A	101624355	G	A	101624355	2	1	135	1	0	0	0	0	0	0	0	1	15719	1280	45	2		2	TBC1D8	2	101624355	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	4589140	101624355	141575018	35	25631											
RANBP2	5903	broad.mit.edu	37	chr2	109399112	109399112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaaggacatgtatcactgGcagcagaattatcaaaggag	17	7	11	6	0	2	2	2	0	0	2	2	4	2	4	0	3	1	3	0	3	5	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:109399112G>A	ENST00000283195.6	+	28	9289	c.9163G>A	c.(9163-9165)Gca>Aca	p.A3055T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3055					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGTATCACTGGCAGCAGAATT	0.368													21	87					0	0	0	0	A	109399112	G	A	109399112	3	1	135	1	0	0	0	0	1	0	0	0	13110	1203	42	4	9273	4	RANBP2	2	109399112	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	7774757	109399112	133800261	36	25632											
LCT	3938	broad.mit.edu	37	chr2	136590728	136590728	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcaggagctccgggatatCttcagctcgcaggacaacag	11	7	12	11	2	2	0	1	0	1	0	4	3	3	3	1	3	4	4	1	3	3	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:136590728C>G	ENST00000264162.2	-	2	683	c.673G>C	c.(673-675)Gat>Cat	p.D225H		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	225	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCGGGATATCTTCAGCTCGC	0.517													33	115					0	0	0	0	G	136590728	C	G	136590728	3	3	135	1	0	0	0	0	1	0	0	0	8746	913	32	2	5174	2	LCT	2	136590728	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	27191616	136590728	106608645	37	25633											
KYNU	8942	broad.mit.edu	37	chr2	143799685	143799685	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataattctttccatgatgttTataaatttaccaatctgctc	12	18	3	8	0	2	1	0	1	2	0	4	1	3	1	2	0	2	2	2	0	6	8			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:143799685T>C	ENST00000264170.4	+	14	1600	c.1342T>C	c.(1342-1344)Tat>Cat	p.Y448H	KYNU_ENST00000409512.1_Missense_Mutation_p.Y448H	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	448					anthranilate metabolic process|NAD biosynthetic 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)	ccatgatgtttataaaTTTAC	0.363													13	63					0	0	0	0	C	143799685	T	C	143799685	3	2	135	1	0	0	0	0	1	0	0	0	8640	1754	61	5	1418	5	KYNU	2	143799685	Missense_Mutation	SNP	T	TCGA-CQ-5327-01A-01D-1683-08	7208957	143799685	99399688	38	25634											
PLA2R1	22925	broad.mit.edu	37	chr2	160826691	160826692	+	Frame_Shift_Ins	INS	-	-	C																															tggctctttcttcttgaagtINSccaatccaccaacttgcacc																										TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:160826691_160826692insC	ENST00000283243.7	-	18	2833_2834	c.2627_2628insG	c.(2626-2628)gctfs	p.A876fs	PLA2R1_ENST00000392771.1_Frame_Shift_Ins_p.A876fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	876	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTTCTTGAAGTCCAATCCACCA	0.322													10	55	---	---	---	---					C	160826692	-	C	160826691	7	5	135	1	0	1	1	0	0	0	0	0	12082	1654	58	0	1823	0	PLA2R1	2	160826691	Frame_Shift_Ins	INS	-	TCGA-CQ-5327-01A-01D-1683-08	17027006	160826691	82372682	39	25635											
SLC4A10	57282	broad.mit.edu	37	chr2	162820729	162820729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgtaccgcttcgaaaaGtgcatctcttcacaattatt	11	12	7	11	3	2	0	1	0	1	0	4	1	2	0	1	1	2	4	1	1	5	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:162820729G>T	ENST00000375514.5	+	22	3177	c.2890G>T	c.(2890-2892)Gtg>Ttg	p.V964L	SLC4A10_ENST00000421911.1_Missense_Mutation_p.V983L|SLC4A10_ENST00000446997.1_Missense_Mutation_p.V983L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V953L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.V953L	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	983					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCTTCGAAAAGTGCATCTCTT	0.378													8	25					1.06961e-07	1.11936e-07	1	0	T	162820729	G	T	162820729	3	4	135	1	0	0	0	0	1	0	0	0	14739	1029	36	4	3118	4	SLC4A10	2	162820729	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	1994038	162820729	80378644	40	25636											
TTN	7273	broad.mit.edu	37	chr2	179427277	179427277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtgggaggggtggttcaGacactttaacgggttctgtt	7	12	16	6	1	2	1	1	0	1	1	2	2	2	2	0	6	1	3	0	6	1	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:179427277G>C	ENST00000589042.1	-	326	83806	c.83582C>G	c.(83581-83583)tCt>tGt	p.S27861C	TTN_ENST00000342992.6_Missense_Mutation_p.S25293C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S18988C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S26220C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S18796C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S18921C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26220	Ig-like 130.						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)			GGGTGGTTCAGACACTTTAAC	0.443													10	48					0	0	0	0	C	179427277	G	C	179427277	3	2	135	1	0	0	0	0	1	0	0	0	16831	942	33	2	24545	2	TTN	2	179427277	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	16606548	179427277	63772096	41	25637											
TTN	7273	broad.mit.edu	37	chr2	179638442	179638442	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatcttttagaggtgttatCacgtccacacctgcaaaatc	12	12	6	11	1	2	1	1	0	1	1	4	1	3	1	2	1	1	2	2	1	4	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:179638442C>G	ENST00000589042.1	-	32	7565	c.7341G>C	c.(7339-7341)gtG>gtC	p.V2447V	TTN_ENST00000342992.6_Silent_p.V2447V|TTN_ENST00000342175.6_Silent_p.V2401V|TTN_ENST00000591111.1_Silent_p.V2447V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V2401V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.V2447V|TTN_ENST00000359218.5_Silent_p.V2401V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2173	Ig-like 14.						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)			GAGGTGTTATCACGTCCACAC	0.373													8	53					0	0	0	0	G	179638442	C	G	179638442	2	3	135	1	0	0	0	0	0	0	0	1	16831	813	29	2		2	TTN	2	179638442	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	211165	179638442	63560931	42	25638											
ZNF804A	91752	broad.mit.edu	37	chr2	185801352	185801352	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgaagaggttaacataaCtatacataagaaaacaaatt	21	10	5	5	0	0	3	0	1	0	2	0	3	0	3	0	1	5	1	0	1	10	7			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:185801352C>A	ENST00000302277.6	+	4	1823	c.1229C>A	c.(1228-1230)aCt>aAt	p.T410N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	410						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTTAACATAACTATACATAAG	0.383													23	68					4.54149e-19	4.91604e-19	1	0	A	185801352	C	A	185801352	3	1	135	1	0	0	0	0	1	0	0	0	18263	565	20	4	1243	4	ZNF804A	2	185801352	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	6162910	185801352	57398021	43	25639											
HIBCH	26275	broad.mit.edu	37	chr2	191155142	191155142	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacacataccaacagcattaTtcagcatatattcttctctg	13	14	3	11	0	3	0	1	0	2	0	4	0	3	0	1	0	5	2	1	0	6	8			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:191155142T>C	ENST00000392332.3	-	5	513	c.374A>G	c.(373-375)aAt>aGt	p.N125S	HIBCH_ENST00000359678.5_Missense_Mutation_p.N125S			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	125					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			AACAGCATTATTCAGCATATA	0.343													15	28					0	0	0	0	C	191155142	T	C	191155142	3	2	135	1	0	0	0	0	1	0	0	0	7150	1493	52	5	826	5	HIBCH	2	191155142	Missense_Mutation	SNP	T	TCGA-CQ-5327-01A-01D-1683-08	5353790	191155142	52044231	44	25640											
SGOL2	151246	broad.mit.edu	37	chr2	201436564	201436564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagaaaagaataacaaatGagcaagaggaaacatactct	22	5	9	5	0	1	4	0	1	1	3	1	6	1	5	0	2	4	1	0	2	8	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:201436564G>A	ENST00000357799.4	+	7	1593	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	499					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AATAACAAATGAGCAAGAGGA	0.338													23	129					0	0	0	0	A	201436564	G	A	201436564	3	1	135	1	0	0	0	0	1	0	0	0	14304	1291	45	2	1517	2	SGOL2	2	201436564	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	10281422	201436564	41762809	45	25641											
CASP8	841	broad.mit.edu	37	chr2	202131502	202131505	+	Frame_Shift_Del	DEL	TTTC	TTTC	-																															gacaccaggcagggctcaaaTttctgcctacaggtgggtgg																										TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:202131502_202131505delTTTC	ENST00000358485.4	+	2	666_669	c.470_473delTTTC	c.(469-474)atfs	p.IS157fs	CASP8_ENST00000432109.2_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000392259.2_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000392266.3_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000392258.3_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000323492.7_Frame_Shift_Del_p.IS98fs	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	98	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGGCTCAAATTTCTGCCTACAGG	0.495										HNSCC(4;0.00038)			7	29	---	---	---	---					-	202131505	TTTC	-	202131502	7	5	135	1	0	1	0	1	0	0	0	0	2702	1493	52	0	476	0	CASP8	2	202131502	Frame_Shift_Del	DEL	TTTC	TCGA-CQ-5327-01A-01D-1683-08	694938	202131502	41067871	46	25642											
ANKZF1	55139	broad.mit.edu	37	chr2	220098944	220098944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagaagcctactgaggaaGaaataagaaagatctgcagg	19	5	12	5	0	1	5	0	1	1	4	1	7	1	6	1	2	3	1	1	2	7	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:220098944G>A	ENST00000323348.5	+	9	1312	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	ANKZF1_ENST00000409849.1_Missense_Mutation_p.E170K|ANKZF1_ENST00000410034.3_Missense_Mutation_p.E380K	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	380						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TACTGAGGAAGAAATAAGAAA	0.468													9	51					0	0	0	0	A	220098944	G	A	220098944	3	1	135	1	0	0	0	0	1	0	0	0	692	943	33	2	1168	2	ANKZF1	2	220098944	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	17967442	220098944	23100429	47	25643											
SH3BP4	23677	broad.mit.edu	37	chr2	235962446	235962446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagccctgcggaccaggacGacttcgtgatttgaatgggt	8	10	13	10	3	1	2	1	2	0	0	2	5	1	4	2	3	2	0	2	3	1	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:235962446G>A	ENST00000409212.1	+	6	3385	c.2878G>A	c.(2878-2880)Gac>Aac	p.D960N	SH3BP4_ENST00000344528.4_Missense_Mutation_p.D960N|SH3BP4_ENST00000392011.2_Missense_Mutation_p.D960N			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	960					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGACCAGGACGACTTCGTGAT	0.622													10	72					0	0	0	0	A	235962446	G	A	235962446	3	1	135	1	0	0	0	0	1	0	0	0	14333	1058	37	1	2892	1	SH3BP4	2	235962446	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	15863502	235962446	7236927	48	25644											
BHLHE40	8553	broad.mit.edu	37	chr3	5025027	5025027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accggatgcagctttcggatGatgaaggccatttcactagc	10	10	11	10	2	1	2	1	2	0	0	2	4	1	4	2	3	3	2	2	3	2	3	rs141865687		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:5025027G>A	ENST00000256495.3	+	5	1492	c.889G>A	c.(889-891)Gat>Aat	p.D297N		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	297						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GCTTTCGGATGATGAAGGCCA	0.562													9	62					0	0	0	0	A	5025027	G	A	5025027	3	1	135	1	0	0	0	0	1	0	0	0	1428	1290	45	2	907	2	BHLHE40	3	5025027	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08		5025027	192997403	49	25645											
FBLN2	2199	broad.mit.edu	37	chr3	13655526	13655526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggcctccgcgtgcgggccGagggccagtcgtgtgagtcc	3	7	18	13	5	0	1	0	1	0	0	3	2	2	1	5	3	1	0	5	3	0	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:13655526G>A	ENST00000404922.3	+	5	1710	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	FBLN2_ENST00000492059.1_Missense_Mutation_p.E531K|FBLN2_ENST00000295760.7_Missense_Mutation_p.E531K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E557K	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	531	Anaphylatoxin-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGTGCGGGCCGAGGGCCAGTC	0.597													12	41					0	0	0	0	A	13655526	G	A	13655526	3	1	135	1	0	0	0	0	1	0	0	0	5744	1059	37	1	295	1	FBLN2	3	13655526	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	8630499	13655526	184366904	50	25646											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37034418	37034418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggcgcctgacgtcgcgttCgcgggtagctacgatgaggc	5	8	17	11	7	0	2	0	2	0	0	2	3	0	2	1	3	2	3	1	3	2	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:37034418C>T	ENST00000322716.5	-	1	377	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	51						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						ACGTCGCGTTCGCGGGTAGCT	0.677													9	30					0	0	0	0	T	37034418	C	T	37034418	3	4	135	1	0	0	0	0	1	0	0	0	5222	893	31	1	1676	1	EPM2AIP1	3	37034418	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	23378892	37034418	160988012	51	25647											
OXSR1	9943	broad.mit.edu	37	chr3	38266161	38266161	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatcatttagaaaaatgAtttcattgtgccttcaaaaa	18	13	5	5	0	3	2	3	1	0	1	3	3	3	2	1	0	1	0	1	0	7	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:38266161A>C	ENST00000311806.3	+	8	1174	c.802A>C	c.(802-804)Att>Ctt	p.I268L	OXSR1_ENST00000446845.1_Missense_Mutation_p.I268L	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	268	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAGAAAAATGATTTCATTGTG	0.313													13	24					0	0	0	0	C	38266161	A	C	38266161	3	2	135	1	0	0	0	0	1	0	0	0	11407	333	12	5	832	5	OXSR1	3	38266161	Missense_Mutation	SNP	A	TCGA-CQ-5327-01A-01D-1683-08	1231743	38266161	159756269	52	25648											
XIRP1	165904	broad.mit.edu	37	chr3	39228921	39228921	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccgtcttccacagggacgGcctgaggcctgaagaggctc	7	6	15	13	2	1	3	0	2	1	1	3	4	2	4	4	5	0	1	4	5	1	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:39228921G>A	ENST00000340369.3	-	2	2244	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	XIRP1_ENST00000396251.1_Silent_p.G672G|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	672							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CACAGGGACGGCCTGAGGCCT	0.612													12	54					0	0	0	0	A	39228921	G	A	39228921	2	1	135	1	0	0	0	0	0	0	0	1	17525	1190	42	4		4	XIRP1	3	39228921	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	962760	39228921	158793509	53	25649											
CCDC51	79714	broad.mit.edu	37	chr3	48475178	48475178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtcctccctggagacaCggtccaagcggtccctcacc	7	7	10	17	2	1	1	1	0	0	1	5	3	5	1	5	3	1	0	5	3	1	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:48475178C>A	ENST00000395694.2	-	3	501	c.416G>T	c.(415-417)cGt>cTt	p.R139L	CCDC51_ENST00000447018.1_Missense_Mutation_p.R30L|CCDC51_ENST00000442740.1_Missense_Mutation_p.R30L|CCDC51_ENST00000412398.2_Missense_Mutation_p.R30L|CCDC51_ENST00000395696.1_Missense_Mutation_p.R139L	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	139						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTGGAGACACGGTCCAAGCG	0.597													35	88					3.90053e-15	4.20776e-15	1	0	A	48475178	C	A	48475178	3	1	135	1	0	0	0	0	1	0	0	0	2848	536	19	3	827	3	CCDC51	3	48475178	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	9246257	48475178	149547252	54	25650											
CACNA1D	776	broad.mit.edu	37	chr3	53839030	53839030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaactatggctactacaGcagatacccaggcagaaaca	17	5	8	11	0	0	2	0	0	0	2	0	2	0	2	1	2	6	4	1	2	7	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:53839030G>A	ENST00000288139.3	+	46	5784	c.5666G>A	c.(5665-5667)aGc>aAc	p.S1889N	CACNA1D_ENST00000544977.1_Missense_Mutation_p.S248N|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S1845N|CACNA1D_ENST00000350061.5_Missense_Mutation_p.S1869N	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1869					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGCTACTACAGCAGATACCCA	0.522													14	42					0	0	0	0	A	53839030	G	A	53839030	3	1	135	1	0	0	0	0	1	0	0	0	2566	971	34	4	5956	4	CACNA1D	3	53839030	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	5363852	53839030	144183400	55	25651											
PRICKLE2	166336	broad.mit.edu	37	chr3	64084754	64084754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatacagtttttgctcttCtgtcttttcctgctgtgcaa	6	19	7	9	0	3	1	0	1	3	0	4	1	4	1	1	0	4	4	1	0	2	6			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:64084754C>A	ENST00000295902.6	-	8	3093	c.2508G>T	c.(2506-2508)caG>caT	p.Q836H	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.Q892H	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	836						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TTTTGCTCTTCTGTCTTTTCC	0.438													29	72					9.39395e-14	1.00649e-13	1	0	A	64084754	C	A	64084754	3	1	135	1	0	0	0	0	1	0	0	0	12567	912	32	2	30	2	PRICKLE2	3	64084754	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	10245724	64084754	133937676	56	25652											
ADAMTS9	56999	broad.mit.edu	37	chr3	64619398	64619398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtatttagggacccagcGcacattgggaagcagaccgt	11	8	12	10	2	0	1	0	0	0	1	0	3	0	3	2	2	2	3	2	2	3	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:64619398G>A	ENST00000498707.1	-	13	2356	c.2014C>T	c.(2014-2016)Cgc>Tgc	p.R672C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R644C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	672	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGGACCCAGCGCACATTGGGA	0.512													43	225					0	0	0	0	A	64619398	G	A	64619398	3	1	135	1	0	0	0	0	1	0	0	0	273	1087	38	1	3901	1	ADAMTS9	3	64619398	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	534644	64619398	133403032	57	25653											
POLQ	10721	broad.mit.edu	37	chr3	121207251	121207251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgaaggaaggggttctttCatttgcatatcaggtaattg	10	15	11	5	0	4	1	2	1	2	0	4	2	4	2	0	4	1	3	0	4	4	6			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:121207251C>T	ENST00000264233.5	-	16	4655	c.4527G>A	c.(4525-4527)atG>atA	p.M1509I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1509					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGGGTTCTTTCATTTGCATAT	0.318								DNA polymerases (catalytic subunits)					18	58					0	0	0	0	T	121207251	C	T	121207251	3	4	135	1	0	0	0	0	1	0	0	0	12280	826	29	2	3305	2	POLQ	3	121207251	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	56587853	121207251	76815179	58	25654											
POLQ	10721	broad.mit.edu	37	chr3	121207996	121207996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcactgggtatcacagttCtgcttatatcatctcctaat	9	16	5	11	0	5	0	3	0	2	0	6	0	5	0	1	1	1	3	1	1	4	6			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:121207996C>T	ENST00000264233.5	-	16	3910	c.3782G>A	c.(3781-3783)aGa>aAa	p.R1261K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1261					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TATCACAGTTCTGCTTATATC	0.343								DNA polymerases (catalytic subunits)					38	151					0	0	0	0	T	121207996	C	T	121207996	3	4	135	1	0	0	0	0	1	0	0	0	12280	913	32	2	4050	2	POLQ	3	121207996	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	745	121207996	76814434	59	25655											
KALRN	8997	broad.mit.edu	37	chr3	123987636	123987636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacaaagctggtggacccctCccagctgacggaggagtttg	9	7	13	12	1	0	1	0	1	0	0	1	4	1	4	3	4	2	3	3	4	1	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:123987636C>T	ENST00000360013.3	+	5	624	c.497C>T	c.(496-498)tCc>tTc	p.S166F	KALRN_ENST00000240874.3_Missense_Mutation_p.S166F|KALRN_ENST00000460856.1_Missense_Mutation_p.S166F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	166	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTGGACCCCTCCCAGCTGACG	0.577													8	47					0	0	0	0	T	123987636	C	T	123987636	3	4	135	1	0	0	0	0	1	0	0	0	8028	855	30	2	515	2	KALRN	3	123987636	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	2779640	123987636	74034794	60	25656											
KALRN	8997	broad.mit.edu	37	chr3	124380748	124380748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacgctgcaatgacatgatGaatctaggacgtctgcaggg	13	8	12	8	2	2	3	0	3	2	0	2	4	2	4	0	2	3	3	0	2	4	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:124380748G>A	ENST00000360013.3	+	45	6442	c.6315G>A	c.(6313-6315)atG>atA	p.M2105I	KALRN_ENST00000393496.1_Missense_Mutation_p.M446I|KALRN_ENST00000428018.2_Missense_Mutation_p.M376I|KALRN_ENST00000291478.4_Missense_Mutation_p.M408I|KALRN_ENST00000459915.1_Missense_Mutation_p.M197I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2104					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.M2105I(1)|p.M408I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGACATGATGAATCTAGGAC	0.507													28	89					0	0	0	0	A	124380748	G	A	124380748	3	1	135	1	0	0	0	0	1	0	0	0	8028	1290	45	2	6649	2	KALRN	3	124380748	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	393112	124380748	73641682	61	25657											
ARMC8	25852	broad.mit.edu	37	chr3	137942337	137942337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaaaacaatgtcaagtctCtactggactgccatattatc	13	12	6	10	0	2	1	1	1	1	0	4	2	2	2	1	1	3	0	1	1	7	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:137942337C>G	ENST00000469044.1	+	4	572	c.301C>G	c.(301-303)Cta>Gta	p.L101V	ARMC8_ENST00000485396.1_Missense_Mutation_p.L59V|ARMC8_ENST00000358441.2_Missense_Mutation_p.L87V|ARMC8_ENST00000471453.1_Missense_Mutation_p.L87V|ARMC8_ENST00000491704.1_Missense_Mutation_p.L59V|ARMC8_ENST00000481646.1_Missense_Mutation_p.L87V|ARMC8_ENST00000489213.1_Missense_Mutation_p.L59V|ARMC8_ENST00000470821.1_Missense_Mutation_p.L101V|ARMC8_ENST00000461822.1_Missense_Mutation_p.L101V|ARMC8_ENST00000393058.3_Missense_Mutation_p.L91V|ARMC8_ENST00000538260.1_Missense_Mutation_p.L101V	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	101							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGTCAAGTCTCTACTGGACTG	0.413													20	78					0	0	0	0	G	137942337	C	G	137942337	3	3	135	1	0	0	0	0	1	0	0	0	961	912	32	2	273	2	ARMC8	3	137942337	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	13561589	137942337	60080093	62	25658											
CPB1	1360	broad.mit.edu	37	chr3	148563304	148563304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccctggctgatttcatccGcaacaaactctcttccatca	9	11	6	15	1	3	1	2	1	1	0	6	1	5	1	3	2	2	2	3	2	2	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:148563304G>A	ENST00000491148.1	+	10	1206	c.872G>A	c.(871-873)cGc>cAc	p.R291H	CPB1_ENST00000282957.4_Missense_Mutation_p.R291H			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	291					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GATTTCATCCGCAACAAACTC	0.463													27	70					0	0	0	0	A	148563304	G	A	148563304	3	1	135	1	0	0	0	0	1	0	0	0	3826	1087	38	1	906	1	CPB1	3	148563304	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	10620967	148563304	49459126	63	25659											
SOX2	6657	broad.mit.edu	37	chr3	181430864	181430864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctggcatggctcttggctCcatgggttcggtggtcaagt	4	12	14	11	1	2	0	1	0	1	0	4	0	3	0	2	6	0	4	2	6	1	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:181430864C>A	ENST00000325404.1	+	1	1143	c.716C>A	c.(715-717)tCc>tAc	p.S239Y	SOX2_ENST00000431565.2_Missense_Mutation_p.S239Y	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	239					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GCTCTTGGCTCCATGGGTTCG	0.652			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						18	61					9.16793e-09	9.62633e-09	1	0	A	181430864	C	A	181430864	3	1	135	1	0	0	0	0	1	0	0	0	15037	855	30	2	718	2	SOX2	3	181430864	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	32867560	181430864	16591566	64	25660											
ABCF3	55324	broad.mit.edu	37	chr3	183910898	183910898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccttttccagggcggcctGaggaggagtaccgtcaccag	7	8	14	12	2	1	1	1	1	0	0	3	3	3	3	5	4	1	1	5	4	1	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:183910898G>A	ENST00000429586.2	+	19	1944	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	ABCF3_ENST00000292808.5_Missense_Mutation_p.E581K|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	587	ABC transporter 2.						ATP binding|ATPase activity	p.E587Q(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGCGGCCTGAGGAGGAGTA	0.632													12	39					0	0	0	0	A	183910898	G	A	183910898	3	1	135	1	0	0	0	0	1	0	0	0	67	1291	45	2	1833	2	ABCF3	3	183910898	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	2480034	183910898	14111532	65	25661											
CHRD	8646	broad.mit.edu	37	chr3	184100495	184100495	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatcaccctgctcactctCagtgacacagaggactcctt	9	9	8	15	0	3	2	3	1	1	1	5	3	4	3	2	2	1	2	2	2	0	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:184100495C>T	ENST00000204604.1	+	8	1161	c.915C>T	c.(913-915)ctC>ctT	p.L305L	CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Silent_p.L305L|CHRD_ENST00000450923.1_Silent_p.L305L|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	305	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTCACTCTCAGTGACACAG	0.592													24	93					0	0	0	0	T	184100495	C	T	184100495	2	4	135	1	0	0	0	0	0	0	0	1	3401	813	29	2		2	CHRD	3	184100495	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	189597	184100495	13921935	66	25662											
LSG1	55341	broad.mit.edu	37	chr3	194362875	194362875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttttccagggcttcccCgccccgttctcagagctcgc	3	13	9	16	3	1	1	1	0	1	1	5	1	3	1	5	1	1	4	5	1	0	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:194362875C>T	ENST00000265245.5	-	14	2213	c.1899G>A	c.(1897-1899)gcG>gcA	p.A633A	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	633					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AGGGCTTCCCCGCCCCGTTCT	0.498													21	74					0	0	0	0	T	194362875	C	T	194362875	2	4	135	1	0	0	0	0	0	0	0	1	9113	639	23	1		1	LSG1	3	194362875	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	10262380	194362875	3659555	67	25663											
NCBP2	22916	broad.mit.edu	37	chr3	196664450	196664450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgtcccagtctgtgcgaatGattcggtcatccagacgcgt	7	10	12	12	5	2	2	1	1	1	1	5	3	4	2	2	1	1	0	2	1	1	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:196664450G>C	ENST00000447325.1	-	3	469	c.120C>G	c.(118-120)atC>atG	p.I40M	NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000427641.2_Missense_Mutation_p.I57M|NCBP2_ENST00000452404.2_Missense_Mutation_p.I92M|NCBP2_ENST00000422610.1_Missense_Mutation_p.I40M|NCBP2_ENST00000321256.5_Missense_Mutation_p.I110M			P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	110	RRM.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		CTGTGCGAATGATTCGGTCAT	0.532													25	69					0	0	0	0	C	196664450	G	C	196664450	3	2	135	1	0	0	0	0	1	0	0	0	10282	1280	45	2	148	2	NCBP2	3	196664450	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	2301575	196664450	1357980	68	25664											
SH3TC1	54436	broad.mit.edu	37	chr4	8230222	8230222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggccgtgcggctgttctCgaggctgccccttggggagt	3	9	18	11	3	1	0	0	0	1	0	2	3	1	2	3	6	2	3	3	6	0	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:8230222C>T	ENST00000539824.1	+	12	2947	c.2573C>T	c.(2572-2574)tCg>tTg	p.S858L	SH3TC1_ENST00000245105.3_Missense_Mutation_p.S934L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	934							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CGGCTGTTCTCGAGGCTGCCC	0.711													12	27					0	0	0	0	T	8230222	C	T	8230222	3	4	135	1	0	0	0	0	1	0	0	0	14349	893	31	1	2843	1	SH3TC1	4	8230222	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08		8230222	182924054	69	25665											
LCORL	254251	broad.mit.edu	37	chr4	17847407	17847407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcgttagagatgctgttgtCaaattcagattccattcaat	11	15	7	8	1	3	2	3	0	0	2	5	3	4	2	1	0	1	3	1	0	3	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:17847407C>G	ENST00000326877.3	-	7	1018	c.894G>C	c.(892-894)ttG>ttC	p.L298F	LCORL_ENST00000539056.1_3'UTR	NM_153686.7	NP_710153.2	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ATGCTGTTGTCAAATTCAGAT	0.383													30	71					0	0	0	0	G	17847407	C	G	17847407	3	3	135	1	0	0	0	0	1	0	0	0	8743	825	29	2	66	2	LCORL	4	17847407	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	9617185	17847407	173306869	70	25666											
ARAP2	116984	broad.mit.edu	37	chr4	36230305	36230305	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaacttgctacgacttctCacaggtgctaggattggtga	10	11	10	10	1	1	1	1	1	1	0	2	3	1	2	1	3	4	2	1	3	3	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:36230305C>G	ENST00000303965.4	-	2	1293	c.804G>C	c.(802-804)gtG>gtC	p.V268V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	268					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TACGACTTCTCACAGGTGCTA	0.418													24	91					0	0	0	0	G	36230305	C	G	36230305	2	3	135	1	0	0	0	0	0	0	0	1	841	813	29	2		2	ARAP2	4	36230305	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	18382898	36230305	154923971	71	25667											
GABRG1	2565	broad.mit.edu	37	chr4	46043203	46043203	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacactgatacccataatcAtcttcttgcggcacagaaat	15	10	5	11	1	3	2	1	1	2	1	3	2	3	2	1	1	3	1	1	1	4	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:46043203A>G	ENST00000295452.4	-	9	1367	c.1200T>C	c.(1198-1200)gaT>gaC	p.D400D		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	400					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ACCCATAATCATCTTCTTGCG	0.423													16	37					0	0	0	0	G	46043203	A	G	46043203	2	3	135	1	0	0	0	0	0	0	0	1	6219	214	8	5		5	GABRG1	4	46043203	Silent	SNP	A	TCGA-CQ-5327-01A-01D-1683-08	9812898	46043203	145111073	72	25668											
KDR	3791	broad.mit.edu	37	chr4	55968137	55968137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggtgtagaggccttcGtcctccttcctcactctgcg	4	12	11	14	2	2	1	1	0	1	1	6	1	5	1	4	3	1	2	4	3	1	3	rs138304068		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:55968137G>A	ENST00000263923.4	-	15	2488	c.2193C>T	c.(2191-2193)gaC>gaT	p.D731D		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	731	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.D731D(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGGCCTTCGTCCTCCTTCC	0.443			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			18	65					0	0	0	0	A	55968137	G	A	55968137	2	1	135	1	0	0	0	0	0	0	0	1	8191	1136	40	1		1	KDR	4	55968137	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	9924934	55968137	135186139	73	25669											
CLOCK	9575	broad.mit.edu	37	chr4	56310880	56310880	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgccgatgaatatttgcttCtatcatgcgtgtccgttgtt	6	18	9	8	3	2	1	1	1	1	0	3	2	3	1	2	0	3	3	2	0	3	7			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:56310880C>G	ENST00000309964.4	-	18	1862	c.1612G>C	c.(1612-1614)Gaa>Caa	p.E538Q	CLOCK_ENST00000513440.1_Missense_Mutation_p.E538Q|CLOCK_ENST00000381322.1_Missense_Mutation_p.E538Q	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	538	Implicated in the circadian rhythmicity (By similarity).				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ATATTTGCTTCTATCATGCGT	0.388													13	50					0	0	0	0	G	56310880	C	G	56310880	3	3	135	1	0	0	0	0	1	0	0	0	3579	922	32	2	948	2	CLOCK	4	56310880	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	342743	56310880	134843396	74	25670											
ADAMTS3	9508	broad.mit.edu	37	chr4	73414358	73414358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatattcccaggcaccagaGatgtctcatgccactccaca	11	10	6	14	0	1	1	1	0	1	1	4	2	3	1	4	1	1	1	4	1	2	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:73414358G>C	ENST00000286657.4	-	3	377	c.341C>G	c.(340-342)tCt>tGt	p.S114C	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	114					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCACCAGAGATGTCTCATG	0.463													29	102					0	0	0	0	C	73414358	G	C	73414358	3	2	135	1	0	0	0	0	1	0	0	0	267	942	33	2	3356	2	ADAMTS3	4	73414358	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	17103478	73414358	117739918	75	25671											
BANK1	55024	broad.mit.edu	37	chr4	102751026	102751026	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggaatgggctctgtacttGacagaagtatttttacatgt	11	14	11	5	0	1	2	0	1	1	1	1	4	1	3	0	2	2	3	0	2	5	6			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:102751026G>C	ENST00000504592.1	+	6	505	c.87G>C	c.(85-87)ttG>ttC	p.L29F	BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.L14F|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000322953.4_Missense_Mutation_p.L44F			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	44	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)		CTCTGTACTTGACAGAAGTAT	0.333													4	47					0	0	0	0	C	102751026	G	C	102751026	3	2	135	1	0	0	0	0	1	0	0	0	1313	1281	45	2	138	2	BANK1	4	102751026	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	29336668	102751026	88403250	76	25672											
TACR3	6870	broad.mit.edu	37	chr4	104640753	104640753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccgccccggcagctagcGaggcggtcaggttcacggcg	5	5	17	14	6	2	0	2	0	0	0	2	1	2	0	3	6	2	3	3	6	1	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:104640753G>A	ENST00000304883.2	-	1	220	c.80C>T	c.(79-81)tCg>tTg	p.S27L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	27						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCAGCTAGCGAGGCGGTCAG	0.682													10	35					0	0	0	0	A	104640753	G	A	104640753	3	1	135	1	0	0	0	0	1	0	0	0	15598	1059	37	1	1337	1	TACR3	4	104640753	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	1889727	104640753	86513523	77	25673											
PCDH10	57575	broad.mit.edu	37	chr4	134076091	134076091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttctgcattccaggaagccGacatagtaagctctaaggac	12	9	10	10	1	2	0	0	0	2	0	3	3	3	2	2	2	3	4	2	2	4	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:134076091G>A	ENST00000264360.4	+	3	3536	c.2710G>A	c.(2710-2712)Gac>Aac	p.D904N		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	904					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCAGGAAGCCGACATAGTAAG	0.433													12	26					0	0	0	0	A	134076091	G	A	134076091	3	1	135	1	0	0	0	0	1	0	0	0	11578	1058	37	1	2780	1	PCDH10	4	134076091	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	29435338	134076091	57078185	78	25674											
NEIL3	55247	broad.mit.edu	37	chr4	178272586	178272586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacatctagcagggtggatCatgttatggactccgtggct	8	11	14	8	1	2	0	1	0	1	0	3	3	3	3	1	5	1	3	1	5	2	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:178272586C>T	ENST00000264596.3	+	7	1040	c.922C>T	c.(922-924)Cat>Tat	p.H308Y	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	308					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAGGGTGGATCATGTTATGGA	0.398								Base excision repair (BER), DNA glycosylases					34	75					0	0	0	0	T	178272586	C	T	178272586	3	4	135	1	0	0	0	0	1	0	0	0	10390	826	29	2	948	2	NEIL3	4	178272586	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	44196495	178272586	12881690	79	25675											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184367411	184367411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagagtgggaactcagctCggagctctggcatctccagt	9	8	13	11	1	3	1	1	0	2	1	5	4	3	3	1	3	3	3	1	3	1	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:184367411C>T	ENST00000504169.1	+	3	781	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	192	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GAACTCAGCTCGGAGCTCTGG	0.512													6	44					0	0	0	0	T	184367411	C	T	184367411	3	4	135	1	0	0	0	0	1	0	0	0	3191	875	31	1	584	1	CDKN2AIP	4	184367411	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	6094825	184367411	6786865	80	25676											
FAT1	2195	broad.mit.edu	37	chr4	187531171	187531171	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgataaatacggccccTgaatagaaatcaaaattact	18	10	5	8	1	2	3	2	2	0	1	2	3	2	3	2	1	2	0	2	1	10	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:187531171T>A	ENST00000441802.2	-	15	10063		c.e15-2			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATACGGCCCCTGAATAGAAAT	0.413										HNSCC(5;0.00058)			5	12					0	0	0	0	A	187531171	T	A	187531171	5	1	135	1	0	0	0	0	0	0	1	0	5734	1594	55	5	3966	5	FAT1	4	187531171	Splice_Site	SNP	T	TCGA-CQ-5327-01A-01D-1683-08	3163760	187531171	3623105	81	25677											
FAT1	2195	broad.mit.edu	37	chr4	187541129	187541129	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgggctgttagcctgcAcgtggaccacagggctgtgc	5	9	14	13	2	0	0	0	0	0	0	1	1	1	1	3	3	3	4	3	3	1	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:187541129A>C	ENST00000441802.2	-	10	6820	c.6611T>G	c.(6610-6612)gTg>gGg	p.V2204G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2204	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTAGCCTGCACGTGGACCAC	0.483										HNSCC(5;0.00058)			29	102					0	0	0	0	C	187541129	A	C	187541129	3	2	135	1	0	0	0	0	1	0	0	0	5734	159	6	5	7227	5	FAT1	4	187541129	Missense_Mutation	SNP	A	TCGA-CQ-5327-01A-01D-1683-08	9958	187541129	3613147	82	25678											
FAT1	2195	broad.mit.edu	37	chr4	187541201	187541201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggtttttcaaacacaGgcatggctttattcatgaca	14	12	8	7	0	2	2	2	1	0	1	2	2	2	2	0	3	1	3	0	3	3	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:187541201G>A	ENST00000441802.2	-	10	6748	c.6539C>T	c.(6538-6540)cCt>cTt	p.P2180L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2180	Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCAAACACAGGCATGGCTTT	0.483										HNSCC(5;0.00058)			9	51					0	0	0	0	A	187541201	G	A	187541201	3	1	135	1	0	0	0	0	1	0	0	0	5734	1000	35	4	7299	4	FAT1	4	187541201	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	72	187541201	3613075	83	25679											
SLC9A3	6550	broad.mit.edu	37	chr5	482690	482690	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atgacggtgaagaacactacGatgatggtggtgctgacgaa	13	8	14	6	3	0	5	0	4	0	1	0	7	0	5	0	3	3	1	0	3	4	1	rs141238439		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:482690G>C	ENST00000264938.3	-	7	1338	c.1329C>G	c.(1327-1329)atC>atG	p.I443M	SLC9A3_ENST00000514375.1_Missense_Mutation_p.I443M	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	443						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGAACACTACGATGATGGTGG	0.662													15	66					0	0	0	0	C	482690	G	C	482690	3	2	135	1	0	0	0	0	1	0	0	0	14801	1048	37	3	1219	3	SLC9A3	5	482690	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08		482690	180432570	84	25680											
GHR	2690	broad.mit.edu	37	chr5	42718786	42718786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaccagctgttgtgaacctGacattctggagactgatttc	9	13	10	9	0	1	4	0	3	1	1	2	5	1	4	2	1	3	3	2	1	2	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:42718786G>A	ENST00000230882.4	+	10	1367	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.D371N|GHR_ENST00000537449.1_Missense_Mutation_p.D206N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	393					2-oxoglutarate metabolic process|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|JAK-STAT cascade|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)	TTGTGAACCTGACATTCTGGA	0.473													20	76					0	0	0	0	A	42718786	G	A	42718786	3	1	135	1	0	0	0	0	1	0	0	0	6422	1290	45	2	1211	2	GHR	5	42718786	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	42236096	42718786	138196474	85	25681											
PARP8	79668	broad.mit.edu	37	chr5	50055555	50055555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataccagtaatttttcataGaatagcaacaggtaatagta	18	12	6	5	0	1	1	1	0	0	1	1	1	1	1	1	1	3	4	1	1	10	9			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:50055555G>A	ENST00000281631.5	+	4	421	c.263G>A	c.(262-264)aGa>aAa	p.R88K	PARP8_ENST00000505697.2_Missense_Mutation_p.R88K|PARP8_ENST00000511363.2_Intron|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.R88K|PARP8_ENST00000503750.2_Missense_Mutation_p.R88K|PARP8_ENST00000505554.1_Missense_Mutation_p.R67K	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	88						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATTTTTCATAGAATAGCAACA	0.259													9	48					0	0	0	0	A	50055555	G	A	50055555	3	1	135	1	0	0	0	0	1	0	0	0	11536	942	33	2	277	2	PARP8	5	50055555	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	7336769	50055555	130859705	86	25682											
PDE4D	5144	broad.mit.edu	37	chr5	58289223	58289223	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatgtgtttgatataaactCtgacacttgatttccagacc	12	14	7	8	0	1	4	0	3	1	1	2	5	2	4	2	0	1	1	2	0	4	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:58289223C>G	ENST00000340635.6	-	7	1166	c.991G>C	c.(991-993)Gag>Cag	p.E331Q	PDE4D_ENST00000358923.6_Missense_Mutation_p.E29Q|PDE4D_ENST00000507116.1_Missense_Mutation_p.E267Q|PDE4D_ENST00000502484.2_Missense_Mutation_p.E270Q|PDE4D_ENST00000405755.2_Missense_Mutation_p.E209Q|PDE4D_ENST00000546160.1_Missense_Mutation_p.E270Q|PDE4D_ENST00000317118.8_Missense_Mutation_p.E40Q|PDE4D_ENST00000503258.1_Missense_Mutation_p.E201Q|PDE4D_ENST00000360047.5_Missense_Mutation_p.E195Q	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	331					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GATATAAACTCTGACACTTGA	0.343													12	41					0	0	0	0	G	58289223	C	G	58289223	3	3	135	1	0	0	0	0	1	0	0	0	11713	922	32	2	1474	2	PDE4D	5	58289223	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	8233668	58289223	122626037	87	25683											
ERBB2IP	55914	broad.mit.edu	37	chr5	65339965	65339965	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacttattttatttctctagGagggaaatttaaaaagatat	15	17	6	3	0	1	1	0	0	1	1	2	3	1	3	0	2	1	0	0	2	9	9			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:65339965G>A	ENST00000284037.5	+	17	1818	c.1428_splice	c.e17-1	p.E477_splice	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000508515.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000506030.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380943.2_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380938.2_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380935.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380939.2_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380936.1_Splice_Site_p.E477_splice	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	477					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ATTTCTCTAGGAGGGAAATTT	0.284													10	37					0	0	0	0	A	65339965	G	A	65339965	5	1	135	1	0	0	0	0	0	0	1	0	5245	1188	41	2	1487	2	ERBB2IP	5	65339965	Splice_Site	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	7050742	65339965	115575295	88	25684											
GPR98	84059	broad.mit.edu	37	chr5	90103466	90103466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaaggagttttcctgTggacgtttcctagccctggt	9	12	12	8	1	0	0	0	0	0	0	2	3	2	3	3	4	1	2	3	4	3	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:90103466T>C	ENST00000405460.2	+	73	14980	c.14884T>C	c.(14884-14886)Tgg>Cgg	p.W4962R	GPR98_ENST00000425867.2_Missense_Mutation_p.W623R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4962					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTTTTCCTGTGGACGTTTCC	0.468													10	28					0	0	0	0	C	90103466	T	C	90103466	3	2	135	1	0	0	0	0	1	0	0	0	6771	1696	59	5	15174	5	GPR98	5	90103466	Missense_Mutation	SNP	T	TCGA-CQ-5327-01A-01D-1683-08	24763501	90103466	90811794	89	25685											
SHROOM1	134549	broad.mit.edu	37	chr5	132159668	132159668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggctctgggctgggctggGaagcaagagggtcacataga	9	7	18	7	0	2	2	1	0	1	2	2	3	2	3	0	5	1	4	0	5	3	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:132159668G>A	ENST00000378679.3	-	7	2489	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	SHROOM1_ENST00000378676.1_Missense_Mutation_p.S493F|SHROOM1_ENST00000319854.3_Missense_Mutation_p.S562F	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	562	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGGGCTGGGAAGCAAGAGG	0.632													18	32					0	0	0	0	A	132159668	G	A	132159668	3	1	135	1	0	0	0	0	1	0	0	0	14381	1174	41	2	889	2	SHROOM1	5	132159668	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	42056202	132159668	48755592	90	25686											
CTNNA1	1495	broad.mit.edu	37	chr5	138266343	138266343	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgacagactttacccGgtgagcagcaccccggcccc	9	5	12	15	2	0	4	0	2	0	2	0	5	0	4	5	3	3	2	5	3	1	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:138266343G>A	ENST00000302763.7	+	15	2282	c.2192_splice	c.e15+1	p.R731_splice	CTNNA1_ENST00000540387.1_Splice_Site_p.R361_splice|CTNNA1_ENST00000518825.1_Splice_Site_p.R731_splice|CTNNA1_ENST00000355078.5_Splice_Site_p.R628_splice	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	731					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACTTTACCCGGTGAGCAGCA	0.577													19	78					0	0	0	0	A	138266343	G	A	138266343	5	1	135	1	0	0	0	0	0	0	1	0	4044	1130	39	1	2246	1	CTNNA1	5	138266343	Splice_Site	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	6106675	138266343	42648917	91	25687											
PCDHGA11	56105	broad.mit.edu	37	chr5	140800862	140800862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcattttcctggggaCgctgcgggggttccgggcca	3	10	17	11	3	0	0	0	0	0	0	2	1	2	1	3	5	2	4	3	5	0	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:140800862C>T	ENST00000398587.2	+	1	101	c.68C>T	c.(67-69)aCg>aTg	p.T23M	PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.T23M|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTGGGGACGCTGCGGGGG	0.622													4	25					0	0	0	0	T	140800862	C	T	140800862	3	4	135	1	0	0	0	0	1	0	0	0	11623	536	19	1	70	1	PCDHGA11	5	140800862	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	2534519	140800862	40114398	92	25688											
ARSI	340075	broad.mit.edu	37	chr5	149677914	149677914	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctcaccctcgtgcaggtcGaagccgcacacgcctgggcc	6	7	11	17	4	1	0	1	0	1	0	4	1	1	0	4	2	2	2	4	2	1	1	rs150264448	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:149677914G>A	ENST00000328668.7	-	2	1152	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	191						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTGCAGGTCGAAGCCGCACA	0.627													5	23					0	0	0	0	A	149677914	G	A	149677914	2	1	135	1	0	0	0	0	0	0	0	1	998	1049	37	1		1	ARSI	5	149677914	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	8877052	149677914	31237346	93	25689											
FAT2	2196	broad.mit.edu	37	chr5	150946494	150946494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttttatcacatgttacagGaacttcaaaatgagggtcct	12	14	8	7	0	2	1	2	1	0	0	3	2	3	2	1	2	2	2	1	2	5	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:150946494G>T	ENST00000261800.5	-	1	2011	c.1999C>A	c.(1999-2001)Cct>Act	p.P667T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	667	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATGTTACAGGAACTTCAAAA	0.423													22	99					3.62473e-10	3.83151e-10	1	0	T	150946494	G	T	150946494	3	4	135	1	0	0	0	0	1	0	0	0	5735	1174	41	2	11142	2	FAT2	5	150946494	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	1268580	150946494	29968766	94	25690											
C1QTNF2	114898	broad.mit.edu	37	chr5	159776351	159776351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggccacatcgtggttgcCggtgttggcatcaaaggtcc	7	10	14	10	2	1	1	1	1	0	0	3	1	2	1	3	5	1	3	3	5	1	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:159776351C>T	ENST00000393975.3	-	3	820	c.817G>A	c.(817-819)Ggc>Agc	p.G273S		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	228	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCGTGGTTGCCGGTGTTGGCA	0.577													4	91					0	0	0	0	T	159776351	C	T	159776351	3	4	135	1	0	0	0	0	1	0	0	0	1982	652	23	1	179	1	C1QTNF2	5	159776351	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	8829857	159776351	21138909	95	25691											
WWC1	23286	broad.mit.edu	37	chr5	167812240	167812240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactcagattgaggatcctcGagtacaatggcggcgggagc	10	7	14	10	3	1	2	1	1	0	1	3	5	2	4	1	4	2	1	1	4	2	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:167812240G>A	ENST00000265293.4	+	3	756	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	WWC1_ENST00000521089.1_Missense_Mutation_p.R85Q	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	85	WW 2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGGATCCTCGAGTACAATGG	0.527													5	23					0	0	0	0	A	167812240	G	A	167812240	3	1	135	1	0	0	0	0	1	0	0	0	17507	1058	37	1	264	1	WWC1	5	167812240	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	8035889	167812240	13103020	96	25692											
DOCK2	1794	broad.mit.edu	37	chr5	169503008	169503008	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagggtgtcagataacttgCgacccttccatgaccggatg	11	9	11	10	2	1	2	1	1	0	1	2	4	2	3	3	2	2	0	3	2	2	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:169503008C>T	ENST00000256935.8	+	47	4866	c.4786C>T	c.(4786-4788)Cga>Tga	p.R1596*	DOCK2_ENST00000520908.1_Nonsense_Mutation_p.R1088*|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.R657*|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1596	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATAACTTGCGACCCTTCCA	0.502													34	86					0	0	0	0	T	169503008	C	T	169503008	4	4	135	1	0	0	0	0	0	1	0	0	4723	760	27	1	4972	1	DOCK2	5	169503008	Nonsense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	1690768	169503008	11412252	97	25693											
CNOT6	57472	broad.mit.edu	37	chr5	179998330	179998330	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaaacttcagctgtcatggGaagaatggaaccaccaatgg	15	7	10	9	0	2	1	2	0	0	1	2	3	2	3	2	3	3	1	2	3	5	1	rs34154769		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:179998330G>A	ENST00000393356.1	+	13	1783	c.1359G>A	c.(1357-1359)ggG>ggA	p.G453G	CNOT6_ENST00000261951.4_Silent_p.G453G			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	453					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GCTGTCATGGGAAGAATGGAA	0.403													26	51					0	0	0	0	A	179998330	G	A	179998330	2	1	135	1	0	0	0	0	0	0	0	1	3652	1161	41	2		2	CNOT6	5	179998330	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	10495322	179998330	916930	98	25694											
BTN3A3	10384	broad.mit.edu	37	chr6	26452578	26452578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaccctggagctgaggtctCcccttctgcaacaaccaatc	9	8	7	17	0	2	1	0	1	2	0	4	2	2	2	5	2	4	2	5	2	3	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:26452578C>T	ENST00000244519.2	+	11	1937	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	BTN3A3_ENST00000361232.3_Missense_Mutation_p.S516F|BTN3A3_ENST00000339789.4_Missense_Mutation_p.S523F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	565						integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GCTGAGGTCTCCCCTTCTGCA	0.493													9	19					0	0	0	0	T	26452578	C	T	26452578	3	4	135	1	0	0	0	0	1	0	0	0	1573	855	30	2	1728	2	BTN3A3	6	26452578	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08		26452578	144662489	99	25695											
PPP1R11	6992	broad.mit.edu	37	chr6	30037047	30037047	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acccctccccagcctcctgaCccttcccagccccctccagg	5	6	5	25	0	0	1	0	1	0	0	4	1	4	1	11	1	2	0	11	1	0	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:30037047C>G	ENST00000376772.3	+	3	668	c.345C>G	c.(343-345)gaC>gaG	p.D115E	PPP1R11_ENST00000376773.1_Missense_Mutation_p.D63E|PPP1R11_ENST00000376763.1_Missense_Mutation_p.D63E|PPP1R11_ENST00000376758.1_Missense_Mutation_p.D63E|PPP1R11_ENST00000376769.2_Missense_Mutation_p.D63E|PPP1R11_ENST00000376765.2_Missense_Mutation_p.D63E	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	115	Pro-rich.					soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						AGCCTCCTGACCCTTCCCAGC	0.597													19	88					0	0	0	0	G	30037047	C	G	30037047	3	3	135	1	0	0	0	0	1	0	0	0	12429	506	18	4	355	4	PPP1R11	6	30037047	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	3584469	30037047	141078020	100	25696											
ITPR3	3710	broad.mit.edu	37	chr6	33636878	33636878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagagtgtgaggcagctgGcccaggaggcgcgggccggc	8	3	20	10	3	0	3	0	1	0	2	0	4	0	4	2	6	1	2	2	6	1	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:33636878G>A	ENST00000374316.5	+	19	3194	c.2134G>A	c.(2134-2136)Gcc>Acc	p.A712T	ITPR3_ENST00000605930.1_Missense_Mutation_p.A712T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	712					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GAGGCAGCTGGCCCAGGAGGC	0.602													7	82					0	0	0	0	A	33636878	G	A	33636878	3	1	135	1	0	0	0	0	1	0	0	0	7975	1203	42	4	2204	4	ITPR3	6	33636878	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	3599831	33636878	137478189	101	25697											
TTBK1	84630	broad.mit.edu	37	chr6	43230734	43230734	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgacagcaaagagtgggtCatcatcgacaaggagacgga	14	6	13	8	3	2	2	2	0	0	2	4	6	2	3	0	3	1	1	0	3	2	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:43230734C>A	ENST00000259750.4	+	13	1715	c.1632C>A	c.(1630-1632)gtC>gtA	p.V544V	TTBK1_ENST00000304139.5_Silent_p.V493V	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	544						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AAGAGTGGGTCATCATCGACA	0.642													10	10					1.58986e-06	1.65283e-06	1	0	A	43230734	C	A	43230734	2	1	135	1	0	0	0	0	0	0	0	1	16772	813	29	2		2	TTBK1	6	43230734	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	9593856	43230734	127884333	102	25698											
ABCC10	89845	broad.mit.edu	37	chr6	43400148	43400148	+	Frame_Shift_Del	DEL	G	G	-																															ccctggtagccttgctgccaGctccagccctagtgctgacc																										TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:43400148delG	ENST00000244533.3	+	1	660	c.301delG	c.(301-303)ctfs	p.A101fs	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Frame_Shift_Del_p.A144fs	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	144						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTTGCTGCCAGCTCCAGCCCT	0.652													20	67	---	---	---	---					-	43400148	G	-	43400148	7	5	135	1	0	1	0	1	0	0	0	0	50	971	34	0	303	0	ABCC10	6	43400148	Frame_Shift_Del	DEL	G	TCGA-CQ-5327-01A-01D-1683-08	169414	43400148	127714919	103	25699											
LRRC1	55227	broad.mit.edu	37	chr6	53761313	53761313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtctttataacctggcttCactggaactgagagagaatc	12	12	9	8	0	2	2	1	1	1	2	3	5	2	3	1	2	2	1	1	2	5	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:53761313C>T	ENST00000370888.1	+	5	741	c.464C>T	c.(463-465)tCa>tTa	p.S155L		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	155						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AACCTGGCTTCACTGGAACTG	0.368													14	51					0	0	0	0	T	53761313	C	T	53761313	3	4	135	1	0	0	0	0	1	0	0	0	9030	838	29	2	482	2	LRRC1	6	53761313	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	10361165	53761313	117353754	104	25700											
DST	667	broad.mit.edu	37	chr6	56483703	56483704	+	Frame_Shift_Ins	INS	-	-	G																															caacctgttatttaactcttINSgcacctgagcttgttgtagc																										TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:56483703_56483704insG	ENST00000370765.6	-	23	5235_5236	c.5128_5129insC	c.(5128-5130)agafs	p.R1710fs	DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1073					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTTAACTCTTGCACCTGAGCT	0.416													50	162	---	---	---	---					G	56483704	-	G	56483703	7	5	135	1	0	1	1	0	0	0	0	0	4819	1812	63	0	15274	0	DST	6	56483703	Frame_Shift_Ins	INS	-	TCGA-CQ-5327-01A-01D-1683-08	2722390	56483703	114631364	105	25701											
HTR1E	3354	broad.mit.edu	37	chr6	87725456	87725456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatacgccaggaagaggaCggccaagagggccgcgctga	12	3	16	10	4	0	4	0	2	0	2	0	6	0	6	3	4	1	1	3	4	4	1	rs143974435		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:87725456C>T	ENST00000305344.4	+	2	1107	c.404C>T	c.(403-405)aCg>aTg	p.T135M	HTR1E_ENST00000369584.1_Missense_Mutation_p.T135M	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	135					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	AGGAAGAGGACGGCCAAGAGG	0.577													19	44					0	0	0	0	T	87725456	C	T	87725456	3	4	135	1	0	0	0	0	1	0	0	0	7492	536	19	1	406	1	HTR1E	6	87725456	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	31241753	87725456	83389611	106	25702											
REV3L	5980	broad.mit.edu	37	chr6	111678329	111678329	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagtctgatatctgatatCtaaaaaacaaacaaaatgtc	18	11	6	6	0	3	2	0	2	3	0	4	3	3	3	0	1	2	0	0	1	8	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:111678329C>G	ENST00000435970.1	-	20	7655		c.e20-1		REV3L_ENST00000358835.3_Splice_Site|REV3L_ENST00000368805.1_Splice_Site|REV3L_ENST00000368802.3_Splice_Site			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TATCTGATATCTAAAAAACAA	0.269								DNA polymerases (catalytic subunits)					10	35					0	0	0	0	G	111678329	C	G	111678329	5	3	135	1	0	0	0	0	0	0	1	0	13322	927	32	2	2380	2	REV3L	6	111678329	Splice_Site	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	23952873	111678329	59436738	107	25703											
KPNA5	3841	broad.mit.edu	37	chr6	117047696	117047696	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttttcctgttttgattgaGattcttcagaaagcagagtt	10	18	8	5	0	2	4	1	2	1	3	3	5	3	4	1	0	1	3	1	0	1	8			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:117047696G>C	ENST00000368564.1	+	12	1312	c.1164G>C	c.(1162-1164)gaG>gaC	p.E388D	KPNA5_ENST00000356348.1_Missense_Mutation_p.E388D			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	385	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TTTTGATTGAGATTCTTCAGA	0.338													22	67					0	0	0	0	C	117047696	G	C	117047696	3	2	135	1	0	0	0	0	1	0	0	0	8485	933	33	2	1210	2	KPNA5	6	117047696	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	5369367	117047696	54067371	108	25704											
AGPAT4	56895	broad.mit.edu	37	chr6	161575246	161575246	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaccgtcttgcgatcctgctCccacttgcgcgaacagaaga	10	8	9	14	4	1	2	0	0	1	2	3	4	3	2	3	0	5	1	3	0	3	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:161575246C>G	ENST00000320285.4	-	4	657	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	AGPAT4_ENST00000366906.5_Missense_Mutation_p.E87Q|AGPAT4_ENST00000366911.5_Missense_Mutation_p.G92A|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366908.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	149					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CGATCCTGCTCCCACTTGCGC	0.562													11	62					0	0	0	0	G	161575246	C	G	161575246	3	3	135	1	0	0	0	0	1	0	0	0	389	864	30	2	715	2	AGPAT4	6	161575246	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	44527550	161575246	9539821	109	25705											
T	6862	broad.mit.edu	37	chr6	166580264	166580264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcggtggttgtccgccGccacgaagtccagcaggaag	8	6	14	13	4	0	0	0	0	0	0	3	2	3	1	5	3	2	2	5	3	2	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:166580264G>A	ENST00000296946.2	-	3	755	c.287C>T	c.(286-288)gCg>gTg	p.A96V	T_ENST00000366871.3_Missense_Mutation_p.A96V	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	96					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GTTGTCCGCCGCCACGAAGTC	0.657									Chordoma, Familial Clustering of				5	51					0	0	0	0	A	166580264	G	A	166580264	3	1	135	1	0	0	0	0	1	0	0	0	15579	1087	38	1	1048	1	T	6	166580264	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	5005018	166580264	4534803	110	25706											
DLL1	28514	broad.mit.edu	37	chr6	170592567	170592569	+	In_Frame_Del	DEL	CTT	CTT	-																															atgatgctgactgagatgtcCttctcacgctggcagttggc																										TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:170592567_170592569delCTT	ENST00000366756.3	-	9	2131_2133	c.1798_1800delAAG	c.(1798-1800)del	p.K600del		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	600					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTGAGATGTCCTTCTCACGCTGG	0.631													17	104	---	---	---	---					-	170592569	CTT	-	170592567	7	5	135	1	0	1	0	1	0	0	0	0	4603	680	24	0	383	0	DLL1	6	170592567	In_Frame_Del	DEL	CTT	TCGA-CQ-5327-01A-01D-1683-08	4012303	170592567	522500	111	25707											
COX19	90639	broad.mit.edu	37	chr7	1012890	1012890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaaattattgttatgaaGacacttcatgaatttctctt	13	18	4	6	0	3	3	2	2	1	1	4	3	3	3	0	0	0	1	0	0	6	7			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:1012890G>A	ENST00000344111.3	-	2	210	c.121C>T	c.(121-123)Ctt>Ttt	p.L41F		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	41	CHCH.					cytosol				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		TTGTTATGAAGACACTTCATG	0.343													9	56					0	0	0	0	A	1012890	G	A	1012890	3	1	135	1	0	0	0	0	1	0	0	0	3798	942	33	2	159	2	COX19	7	1012890	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08		1012890	158125773	112	25708											
DNAH11	8701	broad.mit.edu	37	chr7	21750198	21750198	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactcttattttataggtctCttctcatccattctacgaga	9	18	4	10	1	4	1	1	0	4	1	7	2	5	1	1	1	2	0	1	1	5	8			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:21750198C>G	ENST00000328843.6	+	42	6763	c.6732C>G	c.(6730-6732)ctC>ctG	p.L2244L	DNAH11_ENST00000409508.3_Silent_p.L2237L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2244	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTATAGGTCTCTTCTCATCCA	0.348									Kartagener syndrome				4	19					0	0	0	0	G	21750198	C	G	21750198	2	3	135	1	0	0	0	0	0	0	0	1	4636	900	32	2		2	DNAH11	7	21750198	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	20737308	21750198	137388465	113	25709											
RAPGEF5	9771	broad.mit.edu	37	chr7	22259497	22259499	+	In_Frame_Del	DEL	CTC	CTC	-																															aggcttacgtgttcagacttCtcctgttcttttttgtccgt																										TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:22259497_22259499delCTC	ENST00000344041.6	-	9	835_837	c.523_525delGAG	c.(523-525)del	p.E175del	RAPGEF5_ENST00000475788.1_5'UTR|RAPGEF5_ENST00000405243.1_In_Frame_Del_p.E328del	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GTTCAGACTTCTCCTGTTCTTTT	0.419													9	58	---	---	---	---					-	22259499	CTC	-	22259497	7	5	135	1	0	1	0	1	0	0	0	0	13129	912	32	0	1739	0	RAPGEF5	7	22259497	In_Frame_Del	DEL	CTC	TCGA-CQ-5327-01A-01D-1683-08	509299	22259497	136879166	114	25710											
FAM188B	84182	broad.mit.edu	37	chr7	30830790	30830790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actccctttaggattcttttCacagacactatctgagacgg	10	13	7	11	1	3	2	1	1	2	2	4	4	4	3	1	2	0	0	1	2	2	6			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:30830790C>T	ENST00000265299.6	+	5	750	c.673C>T	c.(673-675)Cac>Tac	p.H225Y	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	225										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGATTCTTTTCACAGACACTA	0.512													48	149					0	0	0	0	T	30830790	C	T	30830790	3	4	135	1	0	0	0	0	1	0	0	0	5557	826	29	2	691	2	FAM188B	7	30830790	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	8571293	30830790	128307873	115	25711											
PDE1C	5137	broad.mit.edu	37	chr7	31918650	31918650	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcactgcgtgaacgatgctCttgaaccggggcttctcgtc	6	11	12	12	4	2	2	0	2	2	0	4	3	2	2	1	2	5	3	1	2	2	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:31918650C>G	ENST00000396184.3	-	5	588	c.384G>C	c.(382-384)aaG>aaC	p.K128N	PDE1C_ENST00000396191.1_Missense_Mutation_p.K128N|PDE1C_ENST00000396193.1_Missense_Mutation_p.K188N|PDE1C_ENST00000396182.2_Missense_Mutation_p.K128N|PDE1C_ENST00000321453.7_Missense_Mutation_p.K128N	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	128					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GAACGATGCTCTTGAACCGGG	0.532													21	62					0	0	0	0	G	31918650	C	G	31918650	3	3	135	1	0	0	0	0	1	0	0	0	11706	912	32	2	1576	2	PDE1C	7	31918650	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	1087860	31918650	127220013	116	25712											
ABCA13	154664	broad.mit.edu	37	chr7	48237849	48237849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctaggttatttgcagccccGagatctacccagctgtggtg	7	12	11	11	1	2	1	0	0	2	1	2	2	2	1	3	2	4	3	3	2	3	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:48237849G>A	ENST00000435803.1	+	3	203	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	60					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						TTGCAGCCCCGAGATCTACCC	0.408													6	18					0	0	0	0	A	48237849	G	A	48237849	3	1	135	1	0	0	0	0	1	0	0	0	31	1058	37	1	18	1	ABCA13	7	48237849	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	16319199	48237849	110900814	117	25713											
ABCA13	154664	broad.mit.edu	37	chr7	48284261	48284261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttcagcttgatggagctCtcagaaatgcgatagctcag	10	12	10	9	1	4	2	3	1	2	1	5	4	4	3	0	1	4	3	0	1	2	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:48284261C>G	ENST00000435803.1	+	11	1375	c.1351C>G	c.(1351-1353)Ctc>Gtc	p.L451V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	451					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						TGATGGAGCTCTCAGAAATGC	0.428													11	53					0	0	0	0	G	48284261	C	G	48284261	3	3	135	1	0	0	0	0	1	0	0	0	31	913	32	2	1222	2	ABCA13	7	48284261	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	46412	48284261	110854402	118	25714											
PEX1	5189	broad.mit.edu	37	chr7	92146808	92146808	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttactttgctgttgctttgGagaaagtagcttaactagct	9	17	9	6	0	0	1	0	0	0	1	0	2	0	1	0	1	6	6	0	1	5	8	rs137856931		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:92146808G>C	ENST00000248633.4	-	5	1116	c.1021C>G	c.(1021-1023)Cca>Gca	p.P341A	PEX1_ENST00000428214.1_Missense_Mutation_p.P341A|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	341					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGTTGCTTTGGAGAAAGTAGC	0.368													13	39					0	0	0	0	C	92146808	G	C	92146808	3	2	135	1	0	0	0	0	1	0	0	0	11807	1174	41	2	2910	2	PEX1	7	92146808	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	43862547	92146808	66991855	119	25715											
ZAN	7455	broad.mit.edu	37	chr7	100345237	100345237	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactggcaggctgtttctgtCaattacacagccgtgggacg	9	10	12	10	2	2	0	1	0	1	0	2	1	2	1	1	3	3	3	1	3	3	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:100345237C>G	ENST00000542585.1	+	0	1144				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGTTTCTGTCAATTACACAG	0.512													14	45					0	0	0	0	G	100345237	C	G	100345237	1	3	135	0	1	0	0	0	0	0	0	0	17609	813	29	2		2	ZAN	7	100345237	RNA	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	8198429	100345237	58793426	120	25716											
ZAN	7455	broad.mit.edu	37	chr7	100346010	100346010	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtgactgggtccagacttCcggggatggtggacactggg	6	9	17	9	1	0	2	0	1	0	1	2	4	2	4	2	6	0	0	2	6	0	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:100346010C>T	ENST00000542585.1	+	0	1314				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTCCAGACTTCCGGGGATGGT	0.537													12	47					0	0	0	0	T	100346010	C	T	100346010	1	4	135	0	1	0	0	0	0	0	0	0	17609	855	30	2		2	ZAN	7	100346010	RNA	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	773	100346010	58792653	121	25717											
RELN	5649	broad.mit.edu	37	chr7	103151303	103151303	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcataacatttcaccttgaAttgcataatccagccttcag	13	13	4	11	0	3	1	3	1	0	0	4	1	4	1	3	0	3	1	3	0	3	6			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:103151303A>G	ENST00000428762.1	-	51	8428	c.8269T>C	c.(8269-8271)Ttc>Ctc	p.F2757L	RELN_ENST00000343529.5_Missense_Mutation_p.F2757L|RELN_ENST00000424685.2_Missense_Mutation_p.F2757L|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2757					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCACCTTGAATTGCATAATC	0.388													8	28					0	0	0	0	G	103151303	A	G	103151303	3	3	135	1	0	0	0	0	1	0	0	0	13302	101	4	5	2173	5	RELN	7	103151303	Missense_Mutation	SNP	A	TCGA-CQ-5327-01A-01D-1683-08	2805293	103151303	55987360	122	25718											
RINT1	60561	broad.mit.edu	37	chr7	105183014	105183014	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcaaccttggatggacgatCttggaaccatgattagccag	11	9	11	10	2	1	1	0	1	1	0	1	5	1	4	3	3	3	1	3	3	3	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:105183014C>G	ENST00000257700.2	+	4	664	c.433C>G	c.(433-435)Ctt>Gtt	p.L145V		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	145					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GATGGACGATCTTGGAACCAT	0.413													19	34					0	0	0	0	G	105183014	C	G	105183014	3	3	135	1	0	0	0	0	1	0	0	0	13461	913	32	2	447	2	RINT1	7	105183014	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	2031711	105183014	53955649	123	25719											
NRCAM	4897	broad.mit.edu	37	chr7	107875082	107875082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaatattctcccgagggtCaataatgtaatcttttggag	12	14	8	7	1	3	0	1	0	2	0	4	2	3	1	1	2	1	1	1	2	6	7			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:107875082C>T	ENST00000379028.3	-	6	645	c.175G>A	c.(175-177)Gac>Aac	p.D59N	NRCAM_ENST00000413765.2_Missense_Mutation_p.D59N|NRCAM_ENST00000351718.4_Missense_Mutation_p.D53N|NRCAM_ENST00000379022.4_Missense_Mutation_p.D59N|NRCAM_ENST00000379024.4_Missense_Mutation_p.D59N|NRCAM_ENST00000425651.2_Missense_Mutation_p.D59N			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	59	Ig-like 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCCCGAGGGTCAATAATGTAA	0.368													20	55					0	0	0	0	T	107875082	C	T	107875082	3	4	135	1	0	0	0	0	1	0	0	0	10715	826	29	2	3881	2	NRCAM	7	107875082	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	2692068	107875082	51263581	124	25720											
CFTR	1080	broad.mit.edu	37	chr7	117227829	117227829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaagacaatatagttCttggagaaggtggaatcaca	17	8	11	5	0	2	3	1	0	1	3	2	6	2	4	0	3	0	1	0	3	6	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:117227829C>A	ENST00000003084.6	+	12	1753	c.1621C>A	c.(1621-1623)Ctt>Att	p.L541I	CFTR_ENST00000454343.1_Missense_Mutation_p.L480I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	541	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CAATATAGTTCTTGGAGAAGG	0.358									Cystic Fibrosis				18	29					5.35356e-11	5.67802e-11	1	0	A	117227829	C	A	117227829	3	1	135	1	0	0	0	0	1	0	0	0	3323	913	32	2	1667	2	CFTR	7	117227829	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	9352747	117227829	41910834	125	25721											
NUP205	23165	broad.mit.edu	37	chr7	135292096	135292096	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcggtgcgagaatctcctCagctggctgagctatgttac	7	11	13	10	2	2	2	1	1	1	1	3	3	2	2	1	3	4	4	1	3	3	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:135292096C>T	ENST00000285968.6	+	22	3198	c.3172C>T	c.(3172-3174)Cag>Tag	p.Q1058*		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1058					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGAATCTCCTCAGCTGGCTGA	0.498													21	38					0	0	0	0	T	135292096	C	T	135292096	4	4	135	1	0	0	0	0	0	1	0	0	10830	827	29	2	3258	2	NUP205	7	135292096	Nonsense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	18064267	135292096	23846567	126	25722											
TMUB1	83590	broad.mit.edu	37	chr7	150779330	150779330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgaatcattgaggaatttCagccgtagcacgaggggctc	10	10	12	9	2	3	2	2	2	1	0	4	4	3	3	1	3	2	3	1	3	3	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:150779330C>T	ENST00000392818.3	-	2	678	c.321G>A	c.(319-321)ctG>ctA	p.L107L	TMUB1_ENST00000476627.1_Silent_p.L107L|TMUB1_ENST00000297533.4_Silent_p.L107L|TMUB1_ENST00000462940.1_Silent_p.L107L|TMUB1_ENST00000482202.1_Silent_p.L107L	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	107	Ubiquitin-like.					cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAGGAATTTCAGCCGTAGCA	0.597													68	200					0	0	0	0	T	150779330	C	T	150779330	2	4	135	1	0	0	0	0	0	0	0	1	16358	813	29	2		2	TMUB1	7	150779330	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	15487234	150779330	8359333	127	25723											
MTMR9	66036	broad.mit.edu	37	chr8	11152790	11152790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggaatggaggaatgcttGaatatagccagttccattga	12	11	11	7	0	0	2	0	2	0	0	1	5	1	5	3	3	2	2	3	3	5	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:11152790G>A	ENST00000221086.3	+	2	743	c.270G>A	c.(268-270)ttG>ttA	p.L90L	MTMR9_ENST00000526292.1_Silent_p.L5L	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	90						cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AGGAATGCTTGAATATAGCCA	0.323													16	115					0	0	0	0	A	11152790	G	A	11152790	2	1	135	1	0	0	0	0	0	0	0	1	10020	1281	45	2		2	MTMR9	8	11152790	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08		11152790	135211232	128	25724											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24256527	24256527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctaacctggggaaaaaGatccacgaccatgctcagct	13	8	9	11	1	2	1	1	0	1	1	3	3	3	2	3	2	3	3	3	2	3	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:24256527G>T	ENST00000538205.1	+	10	1213	c.666G>T	c.(664-666)aaG>aaT	p.K222N	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.K222N|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.K301N	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	301	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			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)		TGGGGAAAAAGATCCACGACC	0.512													7	25					3.09899e-07	3.23239e-07	1	0	T	24256527	G	T	24256527	3	4	135	1	0	0	0	0	1	0	0	0	254	933	33	2	937	2	ADAMDEC1	8	24256527	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	13103737	24256527	122107495	129	25725											
MOS	4342	broad.mit.edu	37	chr8	57025568	57025568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgctcggcctctgcgccGcgctgggtctccagcagcgc	2	6	15	18	7	2	0	0	0	2	0	4	0	2	0	3	2	3	3	3	2	0	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:57025568G>A	ENST00000311923.1	-	1	973	c.974C>T	c.(973-975)gCg>gTg	p.A325V		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	325	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.A325V(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CCTCTGCGCCGCGCTGGGTCT	0.627													8	32					0	0	0	0	A	57025568	G	A	57025568	3	1	135	1	0	0	0	0	1	0	0	0	9782	1087	38	1	69	1	MOS	8	57025568	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	32769041	57025568	89338454	130	25726											
CCNE2	9134	broad.mit.edu	37	chr8	95902690	95902690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcatctgtggttccaagtCagaatgcagaacttcaaaat	13	11	7	10	0	4	2	3	0	1	2	5	2	5	2	2	1	2	2	2	1	5	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:95902690C>T	ENST00000520509.1	-	6	658	c.406G>A	c.(406-408)Gac>Aac	p.D136N	CCNE2_ENST00000308108.4_Missense_Mutation_p.D136N|CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Missense_Mutation_p.D136N			O96020	CCNE2_HUMAN	cyclin E2	136					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGTTCCAAGTCAGAATGCAGA	0.373													45	190					0	0	0	0	T	95902690	C	T	95902690	3	4	135	1	0	0	0	0	1	0	0	0	2950	826	29	2	836	2	CCNE2	8	95902690	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	38877122	95902690	50461332	131	25727											
COL14A1	7373	broad.mit.edu	37	chr8	121381598	121381598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggagagtcggcctggcagcCctgggccccctggctctcct	3	7	15	16	1	1	1	0	0	1	1	3	2	1	1	5	5	1	2	5	5	0	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:121381598C>T	ENST00000297848.3	+	47	5455	c.5185C>T	c.(5185-5187)Cct>Tct	p.P1729S	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1729S|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1634S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1729	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCCTGGCAGCCCTGGGCCCCC	0.582													18	56					0	0	0	0	T	121381598	C	T	121381598	3	4	135	1	0	0	0	0	1	0	0	0	3701	623	22	4	5367	4	COL14A1	8	121381598	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	25478908	121381598	24982424	132	25728											
PLEC	5339	broad.mit.edu	37	chr8	144997457	144997457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcggcctccgtggcctccgCcttcagccgctgcagctcct	2	9	11	19	4	1	0	1	0	0	0	4	0	4	0	7	2	4	3	7	2	0	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:144997457C>T	ENST00000322810.4	-	31	7220	c.7051G>A	c.(7051-7053)Gcg>Acg	p.A2351T	PLEC_ENST00000356346.3_Missense_Mutation_p.A2200T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2241T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2192T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2218T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2237T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2214T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2214T|PLEC_ENST00000398774.2_Missense_Mutation_p.A2182T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2351	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGGCCTCCGCCTTCAGCCGC	0.662													5	11					0	0	0	0	T	144997457	C	T	144997457	3	4	135	1	0	0	0	0	1	0	0	0	12124	739	26	4	7011	4	PLEC	8	144997457	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	23615859	144997457	1366565	133	25729											
KIF24	347240	broad.mit.edu	37	chr9	34286638	34286638	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	taagaggagctccacactgtCcacctgaagctcttgcagtc	10	9	9	13	0	1	2	0	1	1	1	4	3	3	3	3	1	3	3	3	1	2	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:34286638C>G	ENST00000379166.2	-	6	1311	c.1192G>C	c.(1192-1194)Gac>Cac	p.D398H	KIF24_ENST00000345050.2_Intron|KIF24_ENST00000379174.3_Intron|KIF24_ENST00000402558.2_Missense_Mutation_p.D398H	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	398	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TCCACACTGTCCACCTGAAGC	0.443													9	55					0	0	0	0	G	34286638	C	G	34286638	3	3	135	1	0	0	0	0	1	0	0	0	8343	855	30	2	2946	2	KIF24	9	34286638	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08		34286638	106926793	134	25730											
KIAA1045	23349	broad.mit.edu	37	chr9	34976157	34976157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttattttcaggacaacatCaacttgctgcttactgagga	11	13	7	10	0	2	1	2	1	0	0	2	3	2	3	1	2	5	2	1	2	4	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:34976157C>T	ENST00000242315.3	+	4	655	c.573C>T	c.(571-573)atC>atT	p.I191I	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Silent_p.I191I	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	191							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGGACAACATCAACTTGCTGC	0.493													14	36					0	0	0	0	T	34976157	C	T	34976157	2	4	135	1	0	0	0	0	0	0	0	1	8258	816	29	2		2	KIAA1045	9	34976157	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	689519	34976157	106237274	135	25731											
ANKRD20A4	728747	broad.mit.edu	37	chr9	69420272	69420272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttattaaaggtcaaagaaGgaaataatacaaacaaaagt	22	10	6	3	0	1	1	1	0	0	1	1	2	1	2	0	2	2	0	0	2	11	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:69420272G>A	ENST00000357336.3	+	13	1443	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	388										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GGTCAAAGAAGGAAATAATAC	0.259													3	45					0	0	0	0	A	69420272	G	A	69420272	3	1	135	1	0	0	0	0	1	0	0	0	650	1001	35	4	1212	4	ANKRD20A4	9	69420272	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	34444115	69420272	71793159	136	25732											
TRPM3	80036	broad.mit.edu	37	chr9	73225627	73225627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaacttcctcttcatccttCttcctggaggactccccgtt	5	15	6	15	1	3	1	1	1	2	0	7	3	7	3	5	2	1	1	5	2	1	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:73225627C>G	ENST00000377110.2	-	18	2772	c.2529G>C	c.(2527-2529)aaG>aaC	p.K843N	TRPM3_ENST00000360823.2_Missense_Mutation_p.K705N|TRPM3_ENST00000423814.3_Missense_Mutation_p.K870N|TRPM3_ENST00000377111.2_Missense_Mutation_p.K843N|TRPM3_ENST00000408909.2_Missense_Mutation_p.K702N|TRPM3_ENST00000358082.3_Missense_Mutation_p.K705N|TRPM3_ENST00000377106.1_Missense_Mutation_p.K715N|TRPM3_ENST00000396280.5_Missense_Mutation_p.K692N|TRPM3_ENST00000396285.1_Missense_Mutation_p.K690N|TRPM3_ENST00000377105.1_Missense_Mutation_p.K702N|TRPM3_ENST00000357533.2_Missense_Mutation_p.K847N|TRPM3_ENST00000396292.4_Missense_Mutation_p.K715N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	868						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTTCATCCTTCTTCCTGGAGG	0.473													12	94					0	0	0	0	G	73225627	C	G	73225627	3	3	135	1	0	0	0	0	1	0	0	0	16682	912	32	2	2626	2	TRPM3	9	73225627	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	3805355	73225627	67987804	137	25733											
GOLM1	51280	broad.mit.edu	37	chr9	88650317	88650317	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctcctcctcctgtccGtcggggatgacaagctggtc	4	11	11	15	2	0	1	0	1	0	0	7	2	5	2	5	3	2	2	5	3	1	0	rs147755244		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:88650317G>A	ENST00000388712.3	-	8	1149	c.981C>T	c.(979-981)gaC>gaT	p.D327D	GOLM1_ENST00000388711.3_Silent_p.D327D	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	327						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CCTCCTGTCCGTCGGGGATGA	0.637											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	66					0	0	0	0	A	88650317	G	A	88650317	2	1	135	1	0	0	0	0	0	0	0	1	6615	1136	40	1		1	GOLM1	9	88650317	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	15424690	88650317	52563114	138	25734											
GSN	2934	broad.mit.edu	37	chr9	124091231	124091231	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccccacggctgaaggacAagaagatggatgcccatcct	12	6	10	13	1	0	3	0	1	0	2	2	5	2	5	4	3	1	1	4	3	3	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:124091231A>G	ENST00000373823.3	+	22	2730	c.1825A>G	c.(1825-1827)Aag>Gag	p.K609E	GSN_ENST00000373808.2_Missense_Mutation_p.K609E|GSN_ENST00000341272.2_Missense_Mutation_p.K609E|GSN_ENST00000394353.2_Missense_Mutation_p.K620E|GSN_ENST00000545652.1_Missense_Mutation_p.K617E|GSN_ENST00000412819.1_Missense_Mutation_p.K609E|GSN_ENST00000449733.1_Missense_Mutation_p.K609E|GSN_ENST00000373806.1_Missense_Mutation_p.K85E|GSN_ENST00000436847.1_Missense_Mutation_p.K620E|GSN_ENST00000373818.4_Missense_Mutation_p.K660E|GSN_ENST00000373807.1_Missense_Mutation_p.K391E			P06396	GELS_HUMAN	gelsolin	660	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GCTGAAGGACAAGAAGATGGA	0.622													6	25					0	0	0	0	G	124091231	A	G	124091231	3	3	135	1	0	0	0	0	1	0	0	0	6875	131	5	5	2060	5	GSN	9	124091231	Missense_Mutation	SNP	A	TCGA-CQ-5327-01A-01D-1683-08	35440914	124091231	17122200	139	25735											
FCN2	2220	broad.mit.edu	37	chr9	137777654	137777654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctctgtggacttctaccGggactgggccacgtacaagc	7	9	13	12	2	2	0	0	0	2	0	2	2	2	2	2	4	3	2	2	4	3	3	rs56281005		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:137777654G>T	ENST00000350339.2	+	5	370	c.356G>T	c.(355-357)cGg>cTg	p.R119L	FCN2_ENST00000291744.6_Missense_Mutation_p.R157L	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	157	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GACTTCTACCGGGACTGGGCC	0.677													3	58					0.115264	0.117502	1	0	T	137777654	G	T	137777654	3	4	135	1	0	0	0	0	1	0	0	0	5837	1116	39	3	492	3	FCN2	9	137777654	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	13686423	137777654	3435777	140	25736											
ZMYND11	10771	broad.mit.edu	37	chr10	267290	267290	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtccctggcagtgcccagtTtgcagggtgagtacctatga	8	10	13	10	0	0	2	0	2	0	0	1	2	1	2	3	2	3	4	3	2	2	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:267290T>C	ENST00000397962.3	+	4	860	c.432T>C	c.(430-432)gtT>gtC	p.V144V	ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000558098.2_Silent_p.V144V|ZMYND11_ENST00000545619.1_Intron|ZMYND11_ENST00000381604.4_Silent_p.V104V|ZMYND11_ENST00000309776.4_Silent_p.V104V|ZMYND11_ENST00000509513.2_Silent_p.V144V|ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000402736.1_Silent_p.V144V|ZMYND11_ENST00000381591.1_Silent_p.V144V|ZMYND11_ENST00000381607.4_Intron|ZMYND11_ENST00000381602.4_Silent_p.V104V|ZMYND11_ENST00000381584.1_Silent_p.V127V			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	104	Bromo.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGTGCCCAGTTTGCAGGGTGA	0.453													14	78					0	0	0	0	C	267290	T	C	267290	2	2	135	1	0	0	0	0	0	0	0	1	17801	1828	64	5		5	ZMYND11	10	267290	Silent	SNP	T	TCGA-CQ-5327-01A-01D-1683-08		267290	135267457	141	25737											
PHYH	5264	broad.mit.edu	37	chr10	13323083	13323083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgtcaatgtagtggcaatCggcactggcgaaatggcagg	11	7	14	9	3	1	0	1	0	0	0	2	1	1	0	0	5	0	4	0	5	4	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:13323083C>T	ENST00000396920.3	-	8	1209	c.805G>A	c.(805-807)Gat>Aat	p.D269N	PHYH_ENST00000396913.2_Missense_Mutation_p.D186N|PHYH_ENST00000263038.4_Missense_Mutation_p.D286N			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	286			N -> H (in RD).		fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TAGTGGCAATCGGCACTGGCG	0.433													15	58					0	0	0	0	T	13323083	C	T	13323083	3	4	135	1	0	0	0	0	1	0	0	0	11936	884	31	1	168	1	PHYH	10	13323083	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	13055793	13323083	122211664	142	25738											
PRTFDC1	56952	broad.mit.edu	37	chr10	25197546	25197546	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaggggagcacagctactCatatacccttgactgaaggc	11	8	11	11	0	1	2	1	2	0	0	1	3	1	3	1	3	5	3	1	3	4	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:25197546C>G	ENST00000376376.3	-	4	424	c.408G>C	c.(406-408)atG>atC	p.M136I	RN7SKP241_ENST00000464584.2_RNA|PRTFDC1_ENST00000320152.6_Intron|PRTFDC1_ENST00000376378.1_Intron			Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	0					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						cacagctactcatataccctt	0.512													12	22					0	0	0	0	G	25197546	C	G	25197546	3	3	135	1	0	0	0	0	1	0	0	0	12716	841	29	2		2	PRTFDC1	10	25197546	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	11874463	25197546	110337201	143	25739											
FZD8	8325	broad.mit.edu	37	chr10	35928655	35928655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggtcccgcaggcacGggcagttgtgcgtggcctcc	4	7	16	14	3	0	0	0	0	0	0	2	0	2	0	3	4	2	6	3	4	0	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:35928655G>A	ENST00000374694.1	-	1	1707	c.1703C>T	c.(1702-1704)cCg>cTg	p.P568L		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	568					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CCGCAGGCACGGGCAGTTGTG	0.672													12	35					0	0	0	0	A	35928655	G	A	35928655	3	1	135	1	0	0	0	0	1	0	0	0	6184	1116	39	1	385	1	FZD8	10	35928655	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	10731109	35928655	99606092	144	25740											
BTAF1	9044	broad.mit.edu	37	chr10	93719794	93719794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgtggttttaaaacacatGaacgaaacaggagttcataa	16	10	10	5	1	1	1	1	1	0	0	1	3	1	2	0	3	3	2	0	3	5	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:93719794G>C	ENST00000265990.6	+	11	1454	c.1146G>C	c.(1144-1146)atG>atC	p.M382I	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	382					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TAAAACACATGAACGAAACAG	0.383													29	87					0	0	0	0	C	93719794	G	C	93719794	3	2	135	1	0	0	0	0	1	0	0	0	1544	1290	45	2	1188	2	BTAF1	10	93719794	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	57791139	93719794	41814953	145	25741											
PLCE1	51196	broad.mit.edu	37	chr10	95791053	95791053	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagaaaatagtgagtgatGagaacagtaatgaaaaatgt	19	8	13	1	0	0	5	0	4	0	2	0	7	0	5	0	1	1	1	0	1	7	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:95791053G>C	ENST00000260766.3	+	2	884	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	PLCE1_ENST00000371380.2_Missense_Mutation_p.E84Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	84					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTGAGTGATGAGAACAGTAA	0.383													25	58					0	0	0	0	C	95791053	G	C	95791053	3	2	135	1	0	0	0	0	1	0	0	0	12106	1291	45	2	252	2	PLCE1	10	95791053	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	2071259	95791053	39743694	146	25742											
COL17A1	1308	broad.mit.edu	37	chr10	105796297	105796297	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagctctgcatagtccaaaGacaggagggacccatctcca	12	7	9	13	0	3	1	1	0	2	1	5	3	4	3	3	2	2	2	3	2	2	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:105796297G>C	ENST00000353479.5	-	48	3661	c.3371C>G	c.(3370-3372)tCt>tGt	p.S1124C	COL17A1_ENST00000369733.3_Missense_Mutation_p.S1079C	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1124	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATAGTCCAAAGACAGGAGGGA	0.592													7	25					0	0	0	0	C	105796297	G	C	105796297	3	2	135	1	0	0	0	0	1	0	0	0	3704	942	33	2	1158	2	COL17A1	10	105796297	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	10005244	105796297	29738450	147	25743											
EMX2	2018	broad.mit.edu	37	chr10	119303110	119303110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccacaccccctattcgcctCgcagcagcgggatccgtcca	7	6	9	19	4	0	0	0	0	0	0	4	1	2	1	6	1	2	2	6	1	1	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:119303110C>T	ENST00000553456.3	+	1	1156	c.332C>T	c.(331-333)tCg>tTg	p.S111L	EMX2_ENST00000442245.4_Missense_Mutation_p.S111L|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	111						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CTATTCGCCTCGCAGCAGCGG	0.697													17	46					0	0	0	0	T	119303110	C	T	119303110	3	4	135	1	0	0	0	0	1	0	0	0	5146	893	31	1	334	1	EMX2	10	119303110	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	13506813	119303110	16231637	148	25744											
C10orf120	399814	broad.mit.edu	37	chr10	124457552	124457553	+	Frame_Shift_Ins	INS	-	-	T																															ttatttctcgtctttttgtgINSttttttccctctgcctcctc																										TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:124457552_124457553insT	ENST00000329446.4	-	3	735_736	c.704_705insA	c.(703-705)aacfs	p.N235fs		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	235										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTCTTTTTGTGTTTTTTCCCTC	0.371													10	39	---	---	---	---					T	124457553	-	T	124457552	7	5	135	1	0	1	1	0	0	0	0	0	1600	1368	48	0	306	0	C10orf120	10	124457552	Frame_Shift_Ins	INS	-	TCGA-CQ-5327-01A-01D-1683-08	5154442	124457552	11077195	149	25745											
NLRP6	171389	broad.mit.edu	37	chr11	280967	280967	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgggacctgtcgcgcacGtccaagaccaccacgtcagt	8	6	12	15	5	1	1	1	0	0	1	4	2	2	2	4	2	0	1	4	2	1	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:280967G>A	ENST00000534750.1	+	4	1438	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	NLRP6_ENST00000312165.5_Silent_p.T411T	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	411	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTCGCGCACGTCCAAGACCA	0.652													43	134					0	0	0	0	A	280967	G	A	280967	2	1	135	1	0	0	0	0	0	0	0	1	10551	1132	40	1		1	NLRP6	11	280967	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08		280967	134725549	150	25746											
OR51M1	390059	broad.mit.edu	37	chr11	5411115	5411115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctaattgtcatcttcCggggacctgtggccactatc	7	11	10	13	1	2	0	1	0	1	0	4	1	3	1	4	4	0	0	4	4	2	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:5411115C>T	ENST00000328611.3	+	1	509	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	163						integral to membrane	olfactory receptor activity	p.R163R(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCATCTTCCGGGGACCTGT	0.542													42	180					0	0	0	0	T	5411115	C	T	5411115	3	4	135	1	0	0	0	0	1	0	0	0	11174	643	23	1	489	1	OR51M1	11	5411115	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	5130148	5411115	129595401	151	25747											
USP47	55031	broad.mit.edu	37	chr11	11964241	11964241	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaaacatcgaatcaccTctcaatgagagggactcttc	13	11	7	10	1	3	2	2	2	2	1	6	5	3	3	1	1	1	0	1	1	4	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:11964241T>C	ENST00000339865.5	+	19	3232	c.2469T>C	c.(2467-2469)ccT>ccC	p.P823P	USP47_ENST00000527733.1_Silent_p.P891P|USP47_ENST00000399455.2_Silent_p.P911P|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	911					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TCGAATCACCTCTCAATGAGA	0.413													4	57					0	0	0	0	C	11964241	T	C	11964241	2	2	135	1	0	0	0	0	0	0	0	1	17174	1538	54	5		5	USP47	11	11964241	Silent	SNP	T	TCGA-CQ-5327-01A-01D-1683-08	6553126	11964241	123042275	152	25748											
SPTY2D1	144108	broad.mit.edu	37	chr11	18633881	18633881	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttcggtcataaccaaaGatttctctaatgtgcttgga	10	17	7	7	1	2	1	1	0	1	1	4	2	2	2	1	2	2	1	1	2	3	7			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:18633881G>A	ENST00000336349.5	-	4	2101	c.1866C>T	c.(1864-1866)atC>atT	p.I622I		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	622										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CATAACCAAAGATTTCTCTAA	0.323													16	64					0	0	0	0	A	18633881	G	A	18633881	2	1	135	1	0	0	0	0	0	0	0	1	15216	932	33	2		2	SPTY2D1	11	18633881	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	6669640	18633881	116372635	153	25749											
ZNF408	79797	broad.mit.edu	37	chr11	46726882	46726882	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaactgcggcgccatctcatCtcacacaccggggaggccca	9	5	11	16	3	2	0	2	0	2	0	4	2	2	1	3	4	2	0	3	4	1	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:46726882C>G	ENST00000311764.2	+	5	1862	c.1632C>G	c.(1630-1632)atC>atG	p.I544M		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCATCTCATCTCACACACCG	0.677													10	24					0	0	0	0	G	46726882	C	G	46726882	3	3	135	1	0	0	0	0	1	0	0	0	17983	903	32	2	1682	2	ZNF408	11	46726882	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	28093001	46726882	88279634	154	25750											
OR4C11	219429	broad.mit.edu	37	chr11	55371308	55371308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcaggcaagtttcaacaagGgctgcaaatcacagcaataa	16	7	9	9	0	2	0	2	0	0	0	2	0	2	0	0	2	4	6	0	2	6	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:55371308G>A	ENST00000302231.4	-	1	566	c.542C>T	c.(541-543)cCc>cTc	p.P181L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TTTCAACAAGGGCTGCAAATC	0.403													16	14					0	0	0	0	A	55371308	G	A	55371308	3	1	135	1	0	0	0	0	1	0	0	0	11116	1232	43	4	392	4	OR4C11	11	55371308	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	8644426	55371308	79635208	155	25751											
OR5R1	219479	broad.mit.edu	37	chr11	56185150	56185150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtgtgtctgagcaggacaGagctaagaaggggaggtcat	11	8	17	5	0	2	3	1	1	1	2	2	5	2	5	0	4	2	2	0	4	2	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:56185150G>C	ENST00000312253.1	-	1	558	c.559C>G	c.(559-561)Ctg>Gtg	p.L187V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GAGCAGGACAGAGCTAAGAAG	0.448													15	54					0	0	0	0	C	56185150	G	C	56185150	3	2	135	1	0	0	0	0	1	0	0	0	11251	933	33	2	417	2	OR5R1	11	56185150	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	813842	56185150	78821366	156	25752											
AHNAK	79026	broad.mit.edu	37	chr11	62289230	62289230	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatgtccaccttgggtcctGagacgtcaaggtcagccttg	8	10	11	12	1	2	1	2	1	0	1	4	2	4	1	4	2	1	0	4	2	2	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:62289230G>C	ENST00000378024.4	-	5	12933	c.12659C>G	c.(12658-12660)tCa>tGa	p.S4220*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4220					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGGGTCCTGAGACGTCAAG	0.483													72	245					0	0	0	0	C	62289230	G	C	62289230	4	2	135	1	0	0	0	0	0	1	0	0	414	1294	45	2	5133	2	AHNAK	11	62289230	Nonsense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	6104080	62289230	72717286	157	25753											
FERMT3	83706	broad.mit.edu	37	chr11	63990638	63990638	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaacatgcgccagtggAatgtcaactgggacatccgg	11	7	12	11	2	2	0	2	0	0	0	3	2	3	2	2	3	4	1	2	3	3	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:63990638A>T	ENST00000279227.5	+	14	1896	c.1801A>T	c.(1801-1803)Aat>Tat	p.N601Y	FERMT3_ENST00000345728.5_Missense_Mutation_p.N597Y	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	601					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCGCCAGTGGAATGTCAACTG	0.637													24	70					0	0	0	0	T	63990638	A	T	63990638	3	4	135	1	0	0	0	0	1	0	0	0	5864	246	9	5	1851	5	FERMT3	11	63990638	Missense_Mutation	SNP	A	TCGA-CQ-5327-01A-01D-1683-08	1701408	63990638	71015878	158	25754											
PYGM	5837	broad.mit.edu	37	chr11	64521495	64521495	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcactgtcacatcccaCgcctggcacacggggtgggc	6	7	12	16	2	2	0	2	0	0	0	4	0	4	0	3	4	0	1	3	4	0	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:64521495C>T	ENST00000164139.3	-	10	1493	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A	PYGM_ENST00000377432.3_Silent_p.A277A	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	365					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.A365A(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TCACATCCCACGCCTGGCACA	0.672													4	11					0	0	0	0	T	64521495	C	T	64521495	2	4	135	1	0	0	0	0	0	0	0	1	12944	523	19	1		1	PYGM	11	64521495	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	530857	64521495	70485021	159	25755											
C11orf80	79703	broad.mit.edu	37	chr11	66568153	66568154	+	Frame_Shift_Del	DEL	CA	CA	-																															aaggtaaatggaatcctctcCacagagatctttgggtaagt																										TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:66568153_66568154delCA	ENST00000360962.4	+	7	766_767	c.759_760delCA	c.(757-762)tccafs	p.ST253fs	C11orf80_ENST00000540737.1_Frame_Shift_Del_p.ST87fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000525449.2_Frame_Shift_Del_p.ST98fs|C11orf80_ENST00000527634.1_Frame_Shift_Del_p.ST34fs|C11orf80_ENST00000346672.4_Frame_Shift_Del_p.ST98fs|C11orf80_ENST00000532565.2_Frame_Shift_Del_p.ST34fs	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	98										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GAATCCTCTCCACAGAGATCTT	0.356													5	8	---	---	---	---					-	66568154	CA	-	66568153	7	5	135	1	0	1	0	1	0	0	0	0	1675	581	21	0	785	0	C11orf80	11	66568153	Frame_Shift_Del	DEL	CA	TCGA-CQ-5327-01A-01D-1683-08	2046658	66568153	68438363	160	25756											
PC	5091	broad.mit.edu	37	chr11	66617476	66617476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcaggaactccaccaCggagcggggaaaggacagct	11	3	14	13	2	0	0	0	0	0	0	1	4	1	4	3	5	4	2	3	5	2	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:66617476C>T	ENST00000393960.1	-	20	3111	c.2830G>A	c.(2830-2832)Gtg>Atg	p.V944M	PC_ENST00000393958.2_Missense_Mutation_p.V944M|PC_ENST00000529047.1_Missense_Mutation_p.V64M|PC_ENST00000393955.2_Missense_Mutation_p.V944M	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	944					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AACTCCACCACGGAGCGGGGA	0.627													9	70					0	0	0	0	T	66617476	C	T	66617476	3	4	135	1	0	0	0	0	1	0	0	0	11568	536	19	1	722	1	PC	11	66617476	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	49323	66617476	68389040	161	25757											
SHANK2	22941	broad.mit.edu	37	chr11	70331881	70331881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggagatagtgctggtcGtctcgaggtggtggtcgctg	4	11	19	7	4	1	1	0	0	1	1	4	3	1	1	0	6	1	2	0	6	1	1	rs146717159		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:70331881G>A	ENST00000338508.4	-	32	4519	c.4520C>T	c.(4519-4521)aCg>aTg	p.T1507M	SHANK2_ENST00000409161.1_Missense_Mutation_p.T910M|SHANK2_ENST00000449833.2_Missense_Mutation_p.T911M|SHANK2_ENST00000423696.2_Missense_Mutation_p.T1127M			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1127					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGTGCTGGTCGTCTCGAGGTG	0.587													27	51					0	0	0	0	A	70331881	G	A	70331881	3	1	135	1	0	0	0	0	1	0	0	0	14353	1145	40	1	1040	1	SHANK2	11	70331881	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	3714405	70331881	64674635	162	25758											
OR2AT4	341152	broad.mit.edu	37	chr11	74799942	74799942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgatatggaagtcaaGgggcaggtcagccctgtagg	10	7	15	9	0	2	1	2	1	0	0	2	2	2	2	2	5	1	2	2	5	4	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:74799942G>A	ENST00000305159.3	-	1	857	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGGAAGTCAAGGGGCAGGTCA	0.522													19	62					0	0	0	0	A	74799942	G	A	74799942	3	1	135	1	0	0	0	0	1	0	0	0	11058	1000	35	4	148	4	OR2AT4	11	74799942	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	4468061	74799942	60206574	163	25759											
DGAT2	84649	broad.mit.edu	37	chr11	75508295	75508295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgtggtcgggggtgcggctGagtctctgagctccatgcct	3	11	16	11	3	1	2	0	2	1	0	5	2	2	2	2	4	3	2	2	4	0	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:75508295G>C	ENST00000228027.7	+	6	987	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	DGAT2_ENST00000376262.3_Missense_Mutation_p.E200Q	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	243					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GGGTGCGGCTGAGTCTCTGAG	0.572													24	68					0	0	0	0	C	75508295	G	C	75508295	3	2	135	1	0	0	0	0	1	0	0	0	4495	1291	45	2	749	2	DGAT2	11	75508295	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	708353	75508295	59498221	164	25760											
PICALM	8301	broad.mit.edu	37	chr11	85779727	85779727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgggccccatgatctcGtgggtcgtggccttgcatac	4	13	12	12	2	2	1	0	1	2	0	4	1	2	1	3	3	2	1	3	3	1	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:85779727G>A	ENST00000526033.1	-	1	412	c.96C>T	c.(94-96)caC>caT	p.H32H	PICALM_ENST00000528398.1_Intron|PICALM_ENST00000532317.1_Silent_p.H32H|PICALM_ENST00000528411.1_5'UTR|PICALM_ENST00000393346.3_Silent_p.H32H|PICALM_ENST00000356360.5_Silent_p.H32H	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	32	ENTH.				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CCATGATCTCGTGGGTCGTGG	0.662			T	"MLLT10, MLL"	"TALL, AML, "								3	22					0	0	0	0	A	85779727	G	A	85779727	2	1	135	1	0	0	0	0	0	0	0	1	11952	1136	40	1		1	PICALM	11	85779727	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	10271432	85779727	49226789	165	25761											
TMEM135	65084	broad.mit.edu	37	chr11	86868385	86868385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttaatttacaggcCacagaaacactattcagaat	14	16	4	7	0	1	2	1	0	0	2	1	2	1	2	1	1	2	0	1	1	5	9			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:86868385C>T	ENST00000305494.5	+	5	438	c.399C>T	c.(397-399)gcC>gcT	p.A133A	TMEM135_ENST00000355734.4_Intron|TMEM135_ENST00000532959.1_Silent_p.A4A|TMEM135_ENST00000535167.1_5'UTR|TMEM135_ENST00000340353.7_Intron	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	133						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTTACAGGCCACAGAAACAC	0.303													15	57					0	0	0	0	T	86868385	C	T	86868385	2	4	135	1	0	0	0	0	0	0	0	1	16145	581	21	4		4	TMEM135	11	86868385	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	1088658	86868385	48138131	166	25762											
TAGLN	6876	broad.mit.edu	37	chr11	117075058	117075058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacaggctacggacgacctCggcagatcatcagttagagc	11	7	12	11	3	2	3	2	1	0	2	3	5	2	4	1	3	2	3	1	3	2	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:117075058C>T	ENST00000532870.1	+	4	1730	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	TAGLN_ENST00000392951.4_Missense_Mutation_p.R197W|PCSK7_ENST00000320934.3_3'UTR|TAGLN_ENST00000530649.1_Missense_Mutation_p.R197W			Q01995	TAGL_HUMAN	transgelin	197					muscle organ development	cytoplasm	actin binding			central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		CGGACGACCTCGGCAGATCAT	0.647													16	49					0	0	0	0	T	117075058	C	T	117075058	3	4	135	1	0	0	0	0	1	0	0	0	15629	875	31	1	603	1	TAGLN	11	117075058	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	30206673	117075058	17931458	167	25763											
IL10RA	3587	broad.mit.edu	37	chr11	117869847	117869847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgacttagttcaaaactctGagggccgggctggggacaca	10	9	13	9	1	2	2	1	2	1	0	2	3	2	3	1	4	1	2	1	4	3	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:117869847G>A	ENST00000227752.3	+	7	1348	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	IL10RA_ENST00000541785.1_Missense_Mutation_p.E390K|IL10RA_ENST00000545409.1_Missense_Mutation_p.E261K|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	410						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TCAAAACTCTGAGGGCCGGGC	0.652													10	41					0	0	0	0	A	117869847	G	A	117869847	3	1	135	1	0	0	0	0	1	0	0	0	7673	1291	45	2	1254	2	IL10RA	11	117869847	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	794789	117869847	17136669	168	25764											
SCN2B	6327	broad.mit.edu	37	chr11	118037736	118037736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagcaccaagatgaccaCagccaggaagcccccgacgg	13	2	10	16	2	1	2	1	1	0	1	1	4	1	3	5	2	3	1	5	2	2	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:118037736C>A	ENST00000278947.5	-	4	755	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	172					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		AAGATGACCACAGCCAGGAAG	0.597													12	59					0.105934	0.108342	1	0	A	118037736	C	A	118037736	3	1	135	1	0	0	0	0	1	0	0	0	14004	478	17	4	137	4	SCN2B	11	118037736	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	167889	118037736	16968780	169	25765											
MCAM	4162	broad.mit.edu	37	chr11	119181849	119181849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactggcagtggaagtgctGaggccagtggttgtgttgga	7	10	19	5	0	0	1	0	1	0	0	0	4	0	4	1	6	1	4	1	6	1	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:119181849G>A	ENST00000392814.1	-	8	2172	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L	MCAM_ENST00000264036.4_Silent_p.L532L			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	532	Ig-like C2-type 3.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TGGAAGTGCTGAGGCCAGTGG	0.577													26	145					0	0	0	0	A	119181849	G	A	119181849	2	1	135	1	0	0	0	0	0	0	0	1	9437	1277	45	2		2	MCAM	11	119181849	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	1144113	119181849	15824667	170	25766											
TECTA	7007	broad.mit.edu	37	chr11	120979983	120979983	+	Frame_Shift_Del	DEL	C	C	-																															agttcacgccagaatcctttCccctgacagatgggagagcc																										TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:120979983delC	ENST00000392793.1	+	4	533	c.262delC	c.(262-264)ccfs	p.P88fs	TECTA_ENST00000264037.2_Frame_Shift_Del_p.P88fs			O75443	TECTA_HUMAN	tectorin alpha	88					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGAATCCTTTCCCCTGACAGA	0.488													12	25	---	---	---	---					-	120979983	C	-	120979983	7	5	135	1	0	1	0	1	0	0	0	0	15841	855	30	0	272	0	TECTA	11	120979983	Frame_Shift_Del	DEL	C	TCGA-CQ-5327-01A-01D-1683-08	1798134	120979983	14026533	171	25767											
CDON	50937	broad.mit.edu	37	chr11	125891182	125891182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccactcacaatggcacCgatgctattgttggcaaggc	10	8	12	11	1	1	0	1	0	0	0	1	1	1	0	2	4	1	4	2	4	3	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:125891182C>T	ENST00000392693.3	-	3	437	c.310G>A	c.(310-312)Ggt>Agt	p.G104S	CDON_ENST00000263577.7_Missense_Mutation_p.G104S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	104	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ACAATGGCACCGATGCTATTG	0.433													5	31					0	0	0	0	T	125891182	C	T	125891182	3	4	135	1	0	0	0	0	1	0	0	0	3199	652	23	1	3556	1	CDON	11	125891182	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	4911199	125891182	9115334	172	25768											
PRDM10	56980	broad.mit.edu	37	chr11	129772280	129772280	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatgatgtactgtgtggtCtgctgttggctgttggtctg	3	17	16	5	0	2	2	0	2	2	0	2	2	2	2	0	3	2	5	0	3	1	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:129772280C>T	ENST00000358825.5	-	22	3642	c.3411G>A	c.(3409-3411)caG>caA	p.Q1137Q	PRDM10_ENST00000304538.6_Silent_p.Q1000Q|PRDM10_ENST00000360871.3_Silent_p.Q1133Q|PRDM10_ENST00000526082.1_Silent_p.Q1051Q|PRDM10_ENST00000528746.1_Silent_p.Q1094Q|PRDM10_ENST00000423662.2_Silent_p.Q1038Q	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ACTGTGTGGTCTGCTGTTGGC	0.547													37	100					0	0	0	0	T	129772280	C	T	129772280	2	4	135	1	0	0	0	0	0	0	0	1	12531	912	32	2		2	PRDM10	11	129772280	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	3881098	129772280	5234236	173	25769											
CD163	9332	broad.mit.edu	37	chr12	7639395	7639395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcctccatttaccaggcGaagttgaccactctctgcaa	10	10	6	15	1	1	1	0	1	1	0	4	2	3	1	5	1	2	2	5	1	3	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:7639395G>A	ENST00000359156.4	-	10	2360	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	CD163_ENST00000541972.1_Missense_Mutation_p.R708C|CD163_ENST00000432237.2_Missense_Mutation_p.R720C|CD163_ENST00000396620.3_Missense_Mutation_p.R753C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	720	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTTACCAGGCGAAGTTGACCA	0.448													20	67					0	0	0	0	A	7639395	G	A	7639395	3	1	135	1	0	0	0	0	1	0	0	0	2996	1058	37	1	1340	1	CD163	12	7639395	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08		7639395	126212500	174	25770											
GYS2	2998	broad.mit.edu	37	chr12	21757451	21757451	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaaagagcagtaactcctCcacaggaagttcttcgactt	12	11	7	11	1	2	1	1	0	1	1	5	3	4	2	2	1	2	3	2	1	3	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:21757451C>A	ENST00000261195.2	-	1	330	c.76G>T	c.(76-78)Gag>Tag	p.E26*		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	26					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGTAACTCCTCCACAGGAAGT	0.507													4	101					0.150653	0.153083	1	0	A	21757451	C	A	21757451	4	1	135	1	0	0	0	0	0	1	0	0	6963	864	30	2	2099	2	GYS2	12	21757451	Nonsense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	14118056	21757451	112094444	175	25771											
LDHB	3945	broad.mit.edu	37	chr12	21794926	21794926	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaaaatccatccatggcaGctgctgggatgaatgccaag	12	7	10	12	0	0	1	0	1	0	0	2	2	2	2	4	2	3	3	4	2	4	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:21794926G>A	ENST00000396076.1	-	5	887	c.555C>T	c.(553-555)agC>agT	p.S185S	LDHB_ENST00000350669.1_Silent_p.S185S	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	185					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	ATCCATGGCAGCTGCTGGGAT	0.408													13	56					0	0	0	0	A	21794926	G	A	21794926	2	1	135	1	0	0	0	0	0	0	0	1	8754	962	34	4		4	LDHB	12	21794926	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	37475	21794926	112056969	176	25772											
ABCD2	225	broad.mit.edu	37	chr12	40013386	40013386	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcgatctggtccatttcactCgatcagctgctgcatttagc	7	14	8	12	2	3	0	2	0	1	0	6	2	4	0	1	1	4	3	1	1	1	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:40013386C>G	ENST00000308666.3	-	1	167	c.32G>C	c.(31-33)cGa>cCa	p.R11P		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	11	Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CCATTTCACTCGATCAGCTGC	0.473													4	39					0	0	0	0	G	40013386	C	G	40013386	3	3	135	1	0	0	0	0	1	0	0	0	61	884	31	3	2230	3	ABCD2	12	40013386	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	18218460	40013386	93838509	177	25773											
CNTN1	1272	broad.mit.edu	37	chr12	41374736	41374736	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggccctccaggtggtctGagaatagaagacattagagc	12	7	12	10	0	1	4	0	1	1	4	2	5	2	4	3	3	1	0	3	3	4	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:41374736G>C	ENST00000551295.2	+	16	1947	c.1830G>C	c.(1828-1830)ctG>ctC	p.L610L	CNTN1_ENST00000348761.2_Silent_p.L599L|CNTN1_ENST00000347616.1_Silent_p.L610L	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	610	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAGGTGGTCTGAGAATAGAAG	0.413													30	130					0	0	0	0	C	41374736	G	C	41374736	2	2	135	1	0	0	0	0	0	0	0	1	3670	1277	45	2		2	CNTN1	12	41374736	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	1361350	41374736	92477159	178	25774											
RACGAP1	29127	broad.mit.edu	37	chr12	50392997	50392997	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacactgtctgtctcagttCttggctccagctgcctgctg	4	13	9	15	0	3	0	1	0	3	0	5	0	4	0	3	1	3	4	3	1	0	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:50392997C>G	ENST00000434422.1	-	10	1107	c.806G>C	c.(805-807)aGa>aCa	p.R269T	RACGAP1_ENST00000551016.1_Missense_Mutation_p.R269T|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R269T|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R269T|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R269T|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R269T			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	269	Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TGTCTCAGTTCTTGGCTCCAG	0.443													10	36					0	0	0	0	G	50392997	C	G	50392997	3	3	135	1	0	0	0	0	1	0	0	0	13059	913	32	2	1128	2	RACGAP1	12	50392997	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	9018261	50392997	83458898	179	25775											
KRT2	3849	broad.mit.edu	37	chr12	53040579	53040579	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgatctccacatctagggCcagcttcacgttcatcagct	8	10	9	14	2	5	0	3	0	2	0	6	1	5	0	2	2	2	3	2	2	1	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:53040579C>G	ENST00000309680.3	-	7	1435	c.1414G>C	c.(1414-1416)Gcc>Ccc	p.A472P		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	472	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ACATCTAGGGCCAGCTTCACG	0.622													21	68					0	0	0	0	G	53040579	C	G	53040579	3	3	135	1	0	0	0	0	1	0	0	0	8509	739	26	4	517	4	KRT2	12	53040579	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	2647582	53040579	80811316	180	25776											
ESPL1	9700	broad.mit.edu	37	chr12	53664560	53664560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctgtcgggccaagagctGacggaccacatggggatgac	9	5	16	11	2	0	3	0	2	0	1	1	5	0	5	3	5	1	1	3	5	1	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:53664560G>A	ENST00000257934.4	+	5	1438	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	ESPL1_ENST00000552462.1_Silent_p.L449L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	449					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCCAAGAGCTGACGGACCACA	0.547													20	61					0	0	0	0	A	53664560	G	A	53664560	2	1	135	1	0	0	0	0	0	0	0	1	5291	1277	45	2		2	ESPL1	12	53664560	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	623981	53664560	80187335	181	25777											
MBD6	114785	broad.mit.edu	37	chr12	57919424	57919424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctatcagcctcaatgctCcctcatacaactggggagct	9	10	8	14	0	3	0	3	0	0	0	4	1	4	1	2	2	6	3	2	2	4	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:57919424C>A	ENST00000355673.3	+	6	1029	c.673C>A	c.(673-675)Ccc>Acc	p.P225T	MBD6_ENST00000431731.2_Missense_Mutation_p.P225T	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	225	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTCAATGCTCCCTCATACAA	0.652													40	163					2.66277e-13	2.84329e-13	1	0	A	57919424	C	A	57919424	3	1	135	1	0	0	0	0	1	0	0	0	9417	855	30	2	687	2	MBD6	12	57919424	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	4254864	57919424	75932471	182	25778											
USP15	9958	broad.mit.edu	37	chr12	62708688	62708688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgaagatttagcaaagctGacacaataggtaatgcaaga	17	8	9	7	1	0	3	0	1	0	2	1	4	0	3	0	1	3	4	0	1	7	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:62708688G>A	ENST00000280377.5	+	4	524	c.466G>A	c.(466-468)Gac>Aac	p.D156N	USP15_ENST00000393654.3_Missense_Mutation_p.D156N|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Missense_Mutation_p.D156N|USP15_ENST00000353364.3_Missense_Mutation_p.D156N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	156					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGCAAAGCTGACACAATAGG	0.308													34	137					0	0	0	0	A	62708688	G	A	62708688	3	1	135	1	0	0	0	0	1	0	0	0	17142	1290	45	2	480	2	USP15	12	62708688	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	4789264	62708688	71143207	183	25779											
MYBPC1	4604	broad.mit.edu	37	chr12	102025384	102025384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatagccaaagtcaaggctGaagatcttctgagaaaaccc	15	8	8	10	0	4	3	2	2	2	2	4	4	4	3	2	1	2	1	2	1	6	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:102025384G>A	ENST00000549145.1	+	6	389	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E58K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E70K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E84K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E72K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E84K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E71K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E109K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E109K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E84K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	84	Ig-like C2-type 1.			KWFKG -> NGSR (in Ref. 1; CAA46987).	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						AGTCAAGGCTGAAGATCTTCT	0.438													15	79					0	0	0	0	A	102025384	G	A	102025384	3	1	135	1	0	0	0	0	1	0	0	0	10081	1291	45	2	351	2	MYBPC1	12	102025384	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	39316696	102025384	31826511	184	25780											
CABP1	9478	broad.mit.edu	37	chr12	121094058	121094058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcctgcgcaagggcttcGctgagaacaggcagcctgta	8	10	12	11	2	0	1	0	1	0	1	2	2	1	1	2	2	3	5	2	2	3	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:121094058G>A	ENST00000453000.1	+	1	957	c.445G>A	c.(445-447)Gct>Act	p.A149T	CABP1_ENST00000288616.3_Missense_Mutation_p.A70T|CABP1_ENST00000316803.3_Intron|CABP1_ENST00000351200.2_Intron			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	0	Pro-rich.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGGGCTTCGCTGAGAACAG	0.617													6	17					0	0	0	0	A	121094058	G	A	121094058	3	1	135	1	0	0	0	0	1	0	0	0	2556	1087	38	1	872	1	CABP1	12	121094058	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	19068674	121094058	12757837	185	25781											
ZMYM2	7750	broad.mit.edu	37	chr13	20601408	20601408	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataccaagccacaatgcctGatggaaaactgtacaacttt	16	9	6	10	0	0	1	0	1	0	0	0	2	0	2	3	1	6	1	3	1	8	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:20601408G>C	ENST00000382869.3	+	9	2052	c.1801G>C	c.(1801-1803)Gat>Cat	p.D601H	ZMYM2_ENST00000382870.2_5'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.D601H|ZMYM2_ENST00000382874.2_Missense_Mutation_p.D601H|ZMYM2_ENST00000382883.3_Missense_Mutation_p.D83H	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	601					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CACAATGCCTGATGGAAAACT	0.358													3	3					0	0	0	0	C	20601408	G	C	20601408	3	2	135	1	0	0	0	0	1	0	0	0	17795	1290	45	2	1827	2	ZMYM2	13	20601408	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08		20601408	94568470	186	25782											
ATP8A2	51761	broad.mit.edu	37	chr13	26436529	26436529	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcccaccattcccattgctCcagatatgagaggacaggta	11	8	10	12	0	0	2	0	1	0	2	2	4	2	3	4	3	1	2	4	3	2	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:26436529C>G	ENST00000381655.2	+	33	3308	c.3166C>G	c.(3166-3168)Cca>Gca	p.P1056A	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.P991A	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1016					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCCCATTGCTCCAGATATGAG	0.532													7	40					0	0	0	0	G	26436529	C	G	26436529	3	3	135	1	0	0	0	0	1	0	0	0	1197	855	30	2	3296	2	ATP8A2	13	26436529	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	5835121	26436529	88733349	187	25783											
STARD13	90627	broad.mit.edu	37	chr13	33701584	33701584	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggagcagtgagaagcgctgGagcaggctcagctggctggc	8	5	18	10	2	1	1	1	1	0	1	1	4	1	3	0	5	4	6	0	5	1	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:33701584G>A	ENST00000336934.5	-	6	1964	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	STARD13_ENST00000399365.3_Silent_p.L498L|STARD13_ENST00000255486.4_Silent_p.L608L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	616					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGAAGCGCTGGAGCAGGCTCA	0.642													5	15					0	0	0	0	A	33701584	G	A	33701584	2	1	135	1	0	0	0	0	0	0	0	1	15346	1161	41	2		2	STARD13	13	33701584	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	7265055	33701584	81468294	188	25784											
RB1	5925	broad.mit.edu	37	chr13	48881435	48881435	+	Frame_Shift_Del	DEL	G	G	-																															ggcttgagtttgaagaaacaGaagaacctgattttactgca																										TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:48881435delG	ENST00000267163.4	+	2	295	c.157delG	c.(157-159)aafs	p.E54fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	54					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(3)|p.E53K(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGAAGAAACAGAAGAACCTGA	0.328		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			11	64	---	---	---	---					-	48881435	G	-	48881435	7	5	135	1	0	1	0	1	0	0	0	0	13180	943	33	0	163	0	RB1	13	48881435	Frame_Shift_Del	DEL	G	TCGA-CQ-5327-01A-01D-1683-08	15179851	48881435	66288443	189	25785											
ALG11	440138	broad.mit.edu	37	chr13	52586581	52586581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccggcgaaaggagctggtgCctgtgcaagttgttgaggtg	7	9	18	7	2	0	1	0	1	0	0	0	3	0	2	2	4	3	4	2	4	2	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:52586581C>T	ENST00000521508.1	+	1	32	c.27C>T	c.(25-27)tgC>tgT	p.C9C	ALG11_ENST00000523764.1_Silent_p.C9C	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GGAGCTGGTGCCTGTGCAAGT	0.567													8	27					0	0	0	0	T	52586581	C	T	52586581	2	4	135	1	0	0	0	0	0	0	0	1	513	747	26	4		4	ALG11	13	52586581	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	3705146	52586581	62583297	190	25786											
GPC5	2262	broad.mit.edu	37	chr13	92101090	92101090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagagatatcagattgCggctcgccaggatatgcagc	11	7	15	8	2	1	2	1	0	0	2	2	6	1	5	1	4	3	2	1	4	2	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:92101090C>T	ENST00000377067.3	+	2	611	c.239C>T	c.(238-240)gCg>gTg	p.A80V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	80						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TATCAGATTGCGGCTCGCCAG	0.433													17	50					0	0	0	0	T	92101090	C	T	92101090	3	4	135	1	0	0	0	0	1	0	0	0	6650	768	27	1	245	1	GPC5	13	92101090	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	39514509	92101090	23068788	191	25787											
IRF9	10379	broad.mit.edu	37	chr14	24633337	24633337	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagtttctgcttcctccaGagccaggtacgtggcatttc	6	13	11	11	1	1	1	0	0	1	1	4	2	3	2	3	3	3	4	3	3	1	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:24633337G>C	ENST00000396864.3	+	6	930	c.643G>C	c.(643-645)Gag>Cag	p.E215Q	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.E113Q	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	215					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GCTTCCTCCAGAGCCAGGTAC	0.522													36	113					0	0	0	0	C	24633337	G	C	24633337	3	2	135	1	0	0	0	0	1	0	0	0	7890	943	33	2	661	2	IRF9	14	24633337	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08		24633337	82716203	192	25788											
AKAP6	9472	broad.mit.edu	37	chr14	33291002	33291002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagagtctcagtaaagactCttcattttcatctaccaaat	14	14	4	9	0	5	2	3	0	3	2	6	2	5	2	1	0	1	1	1	0	5	6			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:33291002C>T	ENST00000280979.4	+	13	4153	c.3983C>T	c.(3982-3984)tCt>tTt	p.S1328F	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1328					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)		AGTAAAGACTCTTCATTTTCA	0.428													3	58					0	0	0	0	T	33291002	C	T	33291002	3	4	135	1	0	0	0	0	1	0	0	0	455	913	32	2	4029	2	AKAP6	14	33291002	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	8657665	33291002	74058538	193	25789											
PSMA3	5684	broad.mit.edu	37	chr14	58711603	58711603	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tataggggaagcgctccgggCctggaatccctacgcgtccc	7	7	13	14	4	0	0	0	0	0	0	3	2	3	2	4	4	2	1	4	4	5	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:58711603C>A	ENST00000216455.4	+	0	55				PSMA3_ENST00000412908.2_De_novo_Start_OutOfFrame|PSMA3_ENST00000554456.1_3'UTR	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						GCGCTCCGGGCCTGGAATCCC	0.527													14	40					9.31168e-06	9.64862e-06	1	0	A	58711603	C	A	58711603	1	1	135	1	0	0	0	0	0	0	0	0	12747	754	26	4		4	PSMA3	14	58711603	Translation_Start_Site	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	25420601	58711603	48637937	194	25790											
CKB	1152	broad.mit.edu	37	chr14	103986629	103986629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatgaactcatagtccttaGacttgaagagagtttcaatc	14	12	7	8	0	2	4	2	2	0	2	4	5	3	4	1	0	1	1	1	0	5	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:103986629G>A	ENST00000348956.2	-	7	1154	c.797C>T	c.(796-798)tCt>tTt	p.S266F		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	266	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	ATAGTCCTTAGACTTGAAGAG	0.567													8	35					0	0	0	0	A	103986629	G	A	103986629	3	1	135	1	0	0	0	0	1	0	0	0	3476	942	33	2	356	2	CKB	14	103986629	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	45275026	103986629	3362911	195	25791											
INF2	64423	broad.mit.edu	37	chr14	105174903	105174903	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccaccatggtggccccccgGgccaggaaggagcccaagga	9	2	14	16	1	0	0	0	0	0	0	0	3	0	3	7	6	1	0	7	6	2	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:105174903G>A	ENST00000392634.4	+	9	1978	c.1866G>A	c.(1864-1866)cgG>cgA	p.R622R	INF2_ENST00000330634.7_Silent_p.R622R	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	622	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGGCCCCCCGGGCCAGGAAGG	0.697											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	28					0	0	0	0	A	105174903	G	A	105174903	2	1	135	1	0	0	0	0	0	0	0	1	7787	1219	43	4		4	INF2	14	105174903	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	1188274	105174903	2174637	196	25792											
TPM1	7168	broad.mit.edu	37	chr15	63336307	63336307	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatactctgaggctctcaaaGatgcccaggagaagctggag	13	7	12	9	0	2	3	1	1	2	2	3	5	2	4	1	3	3	2	1	3	4	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr15:63336307G>C	ENST00000357980.4	+	3	401	c.322G>C	c.(322-324)Gat>Cat	p.D108H	TPM1_ENST00000403994.3_Missense_Mutation_p.D66H|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000358278.3_Missense_Mutation_p.D66H|TPM1_ENST00000559556.1_Missense_Mutation_p.D66H|TPM1_ENST00000288398.6_Missense_Mutation_p.D66H|TPM1_ENST00000560445.1_Intron			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	66					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						GGCTCTCAAAGATGCCCAGGA	0.567													10	38					0	0	0	0	C	63336307	G	C	63336307	3	2	135	1	0	0	0	0	1	0	0	0	16500	942	33	2	332	2	TPM1	15	63336307	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08		63336307	39195085	197	25793											
ADPGK	83440	broad.mit.edu	37	chr15	73048650	73048650	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccatcatgtgcaatccaGagaggaccaccaggtctggc	10	7	10	14	0	2	1	1	0	1	1	4	3	4	2	5	3	1	1	5	3	1	0	rs142833607	by1000genomes	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr15:73048650G>C	ENST00000311669.8	-	5	875	c.782C>G	c.(781-783)tCt>tGt	p.S261C	ADPGK_ENST00000567733.1_Intron	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	261	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GTGCAATCCAGAGAGGACCAC	0.517													14	67					0	0	0	0	C	73048650	G	C	73048650	3	2	135	1	0	0	0	0	1	0	0	0	330	942	33	2	720	2	ADPGK	15	73048650	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	9712343	73048650	29482742	198	25794											
MESDC1	59274	broad.mit.edu	37	chr15	81295306	81295306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcggcgctgctggcctgcGtgcgcgaggtgaaggtggcg	3	7	20	11	7	0	1	0	1	0	0	1	2	0	1	1	5	3	2	1	5	1	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr15:81295306G>A	ENST00000267984.2	+	1	2012	c.694G>A	c.(694-696)Gtg>Atg	p.V232M		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	232										endometrium(1)|lung(2)	3						GCTGGCCTGCGTGCGCGAGGT	0.697													4	16					0	0	0	0	A	81295306	G	A	81295306	3	1	135	1	0	0	0	0	1	0	0	0	9549	1145	40	1	696	1	MESDC1	15	81295306	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	8246656	81295306	21236086	199	25795											
HN1L	90861	broad.mit.edu	37	chr16	1741947	1741947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacatttttgggtctccggtCactgccacttcacgcttggc	5	13	10	13	2	3	0	2	0	1	0	4	1	3	0	2	3	1	1	2	3	0	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:1741947C>T	ENST00000248098.3	+	3	354	c.297C>T	c.(295-297)gtC>gtT	p.V99V	HN1L_ENST00000382711.5_Silent_p.V83V|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000382710.4_Silent_p.V87V|HN1L_ENST00000562684.1_Silent_p.V127V|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000561516.1_Intron	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	99						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						GGTCTCCGGTCACTGCCACTT	0.542													15	46					0	0	0	0	T	1741947	C	T	1741947	2	4	135	1	0	0	0	0	0	0	0	1	7300	813	29	2		2	HN1L	16	1741947	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08		1741947	88612806	200	25796											
DNAH3	55567	broad.mit.edu	37	chr16	21011751	21011751	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagtgcctgtgggacccacGaacagcattggaatctcatg	10	8	11	12	1	1	0	1	0	1	0	2	3	1	2	3	2	3	1	3	2	2	1	rs138378920		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:21011751G>A	ENST00000261383.3	-	43	6215	c.6216C>T	c.(6214-6216)ttC>ttT	p.F2072F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2072	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.F2072F(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGGACCCACGAACAGCATTG	0.493													14	32					0	0	0	0	A	21011751	G	A	21011751	2	1	135	1	0	0	0	0	0	0	0	1	4640	1049	37	1		1	DNAH3	16	21011751	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	19269804	21011751	69343002	201	25797											
UBFD1	56061	broad.mit.edu	37	chr16	23570850	23570850	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccccgaggataaaacattGagagaaataaaagtgaccag	18	6	10	7	1	0	3	0	2	0	1	1	6	1	4	3	1	1	0	3	1	5	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:23570850G>A	ENST00000395878.3	+	3	798	c.417G>A	c.(415-417)ttG>ttA	p.L139L	UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000219638.4_Silent_p.L363L|UBFD1_ENST00000567212.1_Silent_p.L130L|UBFD1_ENST00000567264.1_Silent_p.L139L	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	139	Ubiquitin-like.									endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		ATAAAACATTGAGAGAAATAA	0.488													5	27					0	0	0	0	A	23570850	G	A	23570850	2	1	135	1	0	0	0	0	0	0	0	1	16980	1281	45	2		2	UBFD1	16	23570850	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	2559099	23570850	66783903	202	25798											
NKD1	85407	broad.mit.edu	37	chr16	50667367	50667367	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtgtgggccacgtggccaGaggggcaagaaacaagcccc	10	3	17	11	1	0	2	0	0	0	2	0	2	0	2	4	5	2	1	4	5	3	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:50667367G>C	ENST00000268459.3	+	10	1312	c.1088G>C	c.(1087-1089)aGa>aCa	p.R363T		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	363					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CACGTGGCCAGAGGGGCAAGA	0.711													8	30					0	0	0	0	C	50667367	G	C	50667367	3	2	135	1	0	0	0	0	1	0	0	0	10511	942	33	2	1126	2	NKD1	16	50667367	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	27096517	50667367	39687386	203	25799											
CES3	23491	broad.mit.edu	37	chr16	67005131	67005131	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatacctaggaagcaactcGgacgcacaagccaaatgcca	16	4	9	12	2	0	0	0	0	0	0	1	3	0	2	3	2	5	2	3	2	7	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:67005131G>T	ENST00000303334.4	+	10	1271	c.1200G>T	c.(1198-1200)tcG>tcT	p.S400S	CES3_ENST00000543856.1_Silent_p.S39S|CES3_ENST00000394037.1_Silent_p.S400S	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	400						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GAAGCAACTCGGACGCACAAG	0.537													16	33					2.32078e-09	2.44497e-09	1	0	T	67005131	G	T	67005131	2	4	135	1	0	0	0	0	0	0	0	1	3300	1103	39	3		3	CES3	16	67005131	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	16337764	67005131	23349622	204	25800											
CTCF	10664	broad.mit.edu	37	chr16	67662366	67662366	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttccgccagaagcagcttCtcgacatgcacttcaagcgc	9	8	8	16	3	2	1	1	0	1	1	4	2	3	1	3	0	4	3	3	0	2	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:67662366C>G	ENST00000264010.4	+	9	2056	c.1612C>G	c.(1612-1614)Ctc>Gtc	p.L538V	CTCF_ENST00000401394.1_Missense_Mutation_p.L210V	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	538					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAGCAGCTTCTCGACATGCA	0.547													34	62					0	0	0	0	G	67662366	C	G	67662366	3	3	135	1	0	0	0	0	1	0	0	0	4032	913	32	2	1638	2	CTCF	16	67662366	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	657235	67662366	22692387	205	25801											
CTCF	10664	broad.mit.edu	37	chr16	67662427	67662427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgcggcttttgtctgttCtaagtgtgggaaaacattta	8	15	10	8	1	2	0	0	0	2	0	2	1	2	1	1	2	2	2	1	2	4	6			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:67662427C>G	ENST00000264010.4	+	9	2117	c.1673C>G	c.(1672-1674)tCt>tGt	p.S558C	CTCF_ENST00000401394.1_Missense_Mutation_p.S230C	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	558					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TTTGTCTGTTCTAAGTGTGGG	0.483													37	76					0	0	0	0	G	67662427	C	G	67662427	3	3	135	1	0	0	0	0	1	0	0	0	4032	913	32	2	1699	2	CTCF	16	67662427	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	61	67662427	22692326	206	25802											
EDC4	23644	broad.mit.edu	37	chr16	67912724	67912724	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcagaatacctgattctCagcgatgtgcaacggaaggt	12	9	11	9	2	2	2	2	1	1	1	3	4	2	3	1	2	5	2	1	2	4	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:67912724C>T	ENST00000358933.5	+	11	1508	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	423					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACCTGATTCTCAGCGATGTGC	0.567													38	106					0	0	0	0	T	67912724	C	T	67912724	2	4	135	1	0	0	0	0	0	0	0	1	4944	813	29	2		2	EDC4	16	67912724	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	250297	67912724	22442029	207	25803											
MYO15A	51168	broad.mit.edu	37	chr17	18045516	18045516	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaagcggcgattccgctctCtgcgccacaagatcatcctg	8	10	9	14	4	2	1	1	0	1	1	5	2	4	1	3	1	2	1	3	1	2	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:18045516C>T	ENST00000205890.5	+	24	6111	c.5773C>T	c.(5773-5775)Ctg>Ttg	p.L1925L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1925	IQ 2.|Neck or regulatory domain.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATTCCGCTCTCTGCGCCACAA	0.592													8	24					0	0	0	0	T	18045516	C	T	18045516	2	4	135	1	0	0	0	0	0	0	0	1	10133	912	32	2		2	MYO15A	17	18045516	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08		18045516	63149694	208	25804											
SARM1	23098	broad.mit.edu	37	chr17	26715421	26715421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagtgtcttcattgatgtgGagaagctggaagcaggcaag	11	10	14	6	0	3	2	2	1	1	1	3	4	3	3	0	3	2	3	0	3	3	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:26715421G>A	ENST00000457710.3	+	7	2155	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	596	TIR.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CATTGATGTGGAGAAGCTGGA	0.552													14	70					0	0	0	0	A	26715421	G	A	26715421	3	1	135	1	0	0	0	0	1	0	0	0	13928	1175	41	2	1810	2	SARM1	17	26715421	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	8669905	26715421	54479789	209	25805											
NR1D1	9572	broad.mit.edu	37	chr17	38251870	38251870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggaggagggagcctggcGcagaccatttagggcctcgt	8	7	17	9	2	0	1	0	0	0	1	1	4	0	4	3	5	1	2	3	5	2	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:38251870G>A	ENST00000246672.3	-	5	1705	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	359					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GGAGCCTGGCGCAGACCATTT	0.637													4	84					0	0	0	0	A	38251870	G	A	38251870	3	1	135	1	0	0	0	0	1	0	0	0	10686	1087	38	1	785	1	NR1D1	17	38251870	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	11536449	38251870	42943340	210	25806											
KRT37	8688	broad.mit.edu	37	chr17	39580458	39580458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattcaggaacttcatggtCtccttctcatggccattcag	8	14	7	12	0	6	0	5	0	2	0	8	1	6	1	2	3	1	0	2	3	1	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:39580458C>T	ENST00000225550.3	-	1	317	c.318G>A	c.(316-318)gaG>gaA	p.E106E	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	106	Coil 1A.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ACTTCATGGTCTCCTTCTCAT	0.572													13	54					0	0	0	0	T	39580458	C	T	39580458	2	4	135	1	0	0	0	0	0	0	0	1	8526	912	32	2		2	KRT37	17	39580458	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	1328588	39580458	41614752	211	25807											
ACLY	47	broad.mit.edu	37	chr17	40063716	40063716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctggatatgcctcccgcccGaaggggggagggaactcgat	8	7	15	11	3	1	0	0	0	1	0	3	5	2	3	3	5	2	0	3	5	3	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:40063716G>A	ENST00000352035.2	-	7	856	c.726C>T	c.(724-726)ttC>ttT	p.F242F	ACLY_ENST00000393896.2_Silent_p.F242F|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Silent_p.F242F|ACLY_ENST00000353196.1_Silent_p.F242F	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	242					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	p.F242F(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCTCCCGCCCGAAGGGGGGAG	0.582													4	72					0	0	0	0	A	40063716	G	A	40063716	2	1	135	1	0	0	0	0	0	0	0	1	143	1049	37	1		1	ACLY	17	40063716	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	483258	40063716	41131494	212	25808											
MAPT	4137	broad.mit.edu	37	chr17	44061080	44061080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccccctggagttcacgtttCacgtggaaatcacacccaac	10	8	7	16	2	3	0	3	0	0	0	3	2	3	2	4	2	1	2	4	2	2	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:44061080C>G	ENST00000344290.5	+	6	1232	c.910C>G	c.(910-912)Cac>Gac	p.H304D	MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.H304D|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.H304D|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.H304D|MAPT_ENST00000570299.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	304					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GTTCACGTTTCACGTGGAAAT	0.622													12	61					0	0	0	0	G	44061080	C	G	44061080	3	3	135	1	0	0	0	0	1	0	0	0	9366	826	29	2	928	2	MAPT	17	44061080	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	3997364	44061080	37134130	213	25809											
CA4	762	broad.mit.edu	37	chr17	58235751	58235751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactcaccacaccgacctgcGatgagaaggtcgtctggact	10	7	10	14	3	2	1	1	1	1	1	3	5	2	2	3	2	1	0	3	2	1	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:58235751G>A	ENST00000300900.4	+	7	787	c.688G>A	c.(688-690)Gat>Aat	p.D230N		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	230					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	ACCGACCTGCGATGAGAAGGT	0.612													11	32					0	0	0	0	A	58235751	G	A	58235751	3	1	135	1	0	0	0	0	1	0	0	0	2543	1058	37	1	714	1	CA4	17	58235751	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	14174671	58235751	22959459	214	25810											
UNC13D	201294	broad.mit.edu	37	chr17	73831829	73831829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactacatcacccacaacCgtcgtgtggtcctgcacccg	9	7	8	17	3	1	0	1	0	0	0	3	1	2	0	4	1	3	1	4	1	2	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:73831829C>T	ENST00000207549.4	-	19	2005	c.1626G>A	c.(1624-1626)acG>acA	p.T542T	UNC13D_ENST00000412096.2_Silent_p.T542T	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	542	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCCACAACCGTCGTGTGGT	0.622									Familial Hemophagocytic Lymphohistiocytosis				30	69					0	0	0	0	T	73831829	C	T	73831829	2	4	135	1	0	0	0	0	0	0	0	1	17083	639	23	1		1	UNC13D	17	73831829	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	15596078	73831829	7363381	215	25811											
CDK3	1018	broad.mit.edu	37	chr17	73998157	73998157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatctggtgtttgagttcctCagccaggacctgaagaagta	10	12	11	8	0	2	3	1	2	1	1	3	4	3	4	3	2	1	3	3	2	4	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:73998157C>T	ENST00000425876.2	+	3	337	c.249C>T	c.(247-249)ctC>ctT	p.L83L	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.L83L			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	83	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						TTGAGTTCCTCAGCCAGGACC	0.572													14	54					0	0	0	0	T	73998157	C	T	73998157	2	4	135	1	0	0	0	0	0	0	0	1	3169	813	29	2		2	CDK3	17	73998157	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	166328	73998157	7197053	216	25812											
MYOM1	8736	broad.mit.edu	37	chr18	3129359	3129359	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgtttggcccaggttttGagagctactgggtagtgaag	7	14	14	6	0	1	2	0	2	1	1	1	3	1	2	1	3	2	4	1	3	3	6			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr18:3129359G>C	ENST00000400569.3	-	18	2998	c.2665C>G	c.(2665-2667)Caa>Gaa	p.Q889E	MYOM1_ENST00000356443.4_Missense_Mutation_p.Q889E|MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR			P52179	MYOM1_HUMAN	myomesin 1	889						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCCAGGTTTTGAGAGCTACTG	0.532											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	114					0	0	0	0	C	3129359	G	C	3129359	3	2	135	1	0	0	0	0	1	0	0	0	10161	1299	45	2	2476	2	MYOM1	18	3129359	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08		3129359	74947889	217	25813											
PTPRM	5797	broad.mit.edu	37	chr18	7955287	7955287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcagccagtcgattccaCgagctataaaattggacacc	12	7	9	13	3	0	0	0	0	0	0	2	3	1	1	4	2	2	2	4	2	3	4	rs150274533	by1000genomes	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr18:7955287C>T	ENST00000332175.8	+	7	2044	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M	PTPRM_ENST00000400053.4_Missense_Mutation_p.T274M|PTPRM_ENST00000400060.4_Missense_Mutation_p.T336M|PTPRM_ENST00000580170.1_Missense_Mutation_p.T336M|PTPRM_ENST00000444013.1_Missense_Mutation_p.T123M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	336	Fibronectin type-III 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTCGATTCCACGAGCTATAAA	0.572													6	30					0	0	0	0	T	7955287	C	T	7955287	3	4	135	1	0	0	0	0	1	0	0	0	12888	536	19	1	1033	1	PTPRM	18	7955287	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	4825928	7955287	70121961	218	25814											
MC4R	4160	broad.mit.edu	37	chr18	58039474	58039474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctcgtagcaccctccatCagagtagccttttccaaggg	8	11	9	13	1	1	1	1	0	0	1	4	1	3	1	4	1	3	4	4	1	3	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr18:58039474C>T	ENST00000299766.3	-	1	527	c.109G>A	c.(109-111)Gat>Aat	p.D37N		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	37			D -> V (in obesity; dbSNP:rs13447325).		feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CACCCTCCATCAGAGTAGCCT	0.512													15	44					0	0	0	0	T	58039474	C	T	58039474	3	4	135	1	0	0	0	0	1	0	0	0	9435	826	29	2	893	2	MC4R	18	58039474	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	50084187	58039474	20037774	219	25815											
CDH19	28513	broad.mit.edu	37	chr18	64176484	64176484	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaatgacagctgtgttatCtaaaacaaaaatccatgtgc	17	10	6	8	0	1	1	0	1	1	0	2	1	2	1	1	0	3	2	1	0	7	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr18:64176484C>G	ENST00000262150.2	-	11	1869		c.e11-1		CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GCTGTGTTATCTAAAACAAAA	0.343													9	17					0	0	0	0	G	64176484	C	G	64176484	5	3	135	1	0	0	0	0	0	0	1	0	3133	927	32	2	750	2	CDH19	18	64176484	Splice_Site	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	6137010	64176484	13900764	220	25816											
CNDP2	55748	broad.mit.edu	37	chr18	72180833	72180833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggaacatcctgatccccgGcattaacgaggccgtggccg	8	6	14	13	4	0	1	0	1	0	0	2	3	2	2	5	5	2	1	5	5	2	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr18:72180833G>A	ENST00000324262.4	+	8	1098	c.782G>A	c.(781-783)gGc>gAc	p.G261D	CNDP2_ENST00000579847.1_Missense_Mutation_p.G261D|CNDP2_ENST00000324301.8_Missense_Mutation_p.G177D	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	261						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTGATCCCCGGCATTAACGAG	0.607													3	30					0	0	0	0	A	72180833	G	A	72180833	3	1	135	1	0	0	0	0	1	0	0	0	3624	1203	42	4	808	4	CNDP2	18	72180833	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	8004349	72180833	5896415	221	25817											
TICAM1	148022	broad.mit.edu	37	chr19	4817044	4817044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtaggatgatgaaagctGagtggtctatggcgtcctgc	10	10	15	6	1	1	3	0	3	1	0	2	5	2	4	1	3	2	2	1	3	4	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:4817044G>A	ENST00000248244.5	-	2	1575	c.1346C>T	c.(1345-1347)tCa>tTa	p.S449L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	449	TIR.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	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)		GATGAAAGCTGAGTGGTCTAT	0.632													8	57					0	0	0	0	A	4817044	G	A	4817044	3	1	135	1	0	0	0	0	1	0	0	0	15986	1294	45	2	796	2	TICAM1	19	4817044	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08		4817044	54311939	222	25818											
KDM4B	23030	broad.mit.edu	37	chr19	5131326	5131326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgcccagtgaggagctaGaggccaagcctcggcccatc	9	5	14	13	1	0	2	0	1	0	1	2	3	0	3	4	4	3	1	4	4	2	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:5131326G>A	ENST00000159111.4	+	12	1773	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	KDM4B_ENST00000536461.1_Missense_Mutation_p.E553K	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	519	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGAGGAGCTAGAGGCCAAGCC	0.687													8	26					0	0	0	0	A	5131326	G	A	5131326	3	1	135	1	0	0	0	0	1	0	0	0	8182	943	33	2	1593	2	KDM4B	19	5131326	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	314282	5131326	53997657	223	25819											
MAP2K7	5609	broad.mit.edu	37	chr19	7968931	7968931	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgacctcaacctggatatCagcccccagcggcccaggcc	9	5	9	18	2	2	0	2	0	0	0	3	2	2	1	6	3	3	0	6	3	2	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:7968931C>T	ENST00000545011.1	+	1	167	c.102C>T	c.(100-102)atC>atT	p.I34I	MAP2K7_ENST00000397983.3_Silent_p.I34I|MAP2K7_ENST00000397981.3_Silent_p.I34I|MAP2K7_ENST00000397979.3_Silent_p.I34I			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	34					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	ACCTGGATATCAGCCCCCAGC	0.741													5	12					0	0	0	0	T	7968931	C	T	7968931	2	4	135	1	0	0	0	0	0	0	0	1	9311	816	29	2		2	MAP2K7	19	7968931	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	2837605	7968931	51160052	224	25820											
MUC16	94025	broad.mit.edu	37	chr19	9066948	9066948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaggctaggggtgagcagtGaggtcataggagaaggagtg	11	7	19	4	0	1	3	1	2	0	1	1	5	1	4	0	6	1	2	0	6	4	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:9066948G>A	ENST00000397910.4	-	3	20701	c.20498C>T	c.(20497-20499)tCa>tTa	p.S6833L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6835	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						GGTGAGCAGTGAGGTCATAGG	0.502													10	62					0	0	0	0	A	9066948	G	A	9066948	3	1	135	1	0	0	0	0	1	0	0	0	10043	1294	45	2	23353	2	MUC16	19	9066948	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	1098017	9066948	50062035	225	25821											
SLC44A2	57153	broad.mit.edu	37	chr19	10747142	10747142	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttctggttggccaacttCgtgctggcgctgggccaggt	3	13	14	11	2	2	0	0	0	2	0	3	0	2	0	2	5	2	3	2	5	1	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:10747142C>T	ENST00000586078.1	+	15	1486	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	SLC44A2_ENST00000335757.5_Silent_p.F459F|SLC44A2_ENST00000407327.4_Silent_p.F457F	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	459					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TGGCCAACTTCGTGCTGGCGC	0.647													34	76					0	0	0	0	T	10747142	C	T	10747142	2	4	135	1	0	0	0	0	0	0	0	1	14724	883	31	1		1	SLC44A2	19	10747142	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	1680194	10747142	48381841	226	25822											
ZNF490	57474	broad.mit.edu	37	chr19	12721450	12721450	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctctggacttgctcctcGaggggtcgctccatctggaa	5	12	12	12	2	2	0	0	0	2	0	6	3	4	2	2	4	2	3	2	4	1	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:12721450G>A	ENST00000311437.6	-	1	167	c.45C>T	c.(43-45)ctC>ctT	p.L15L	ZNF490_ENST00000465656.1_Intron	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTGCTCCTCGAGGGGTCGCT	0.567													14	30					0	0	0	0	A	12721450	G	A	12721450	2	1	135	1	0	0	0	0	0	0	0	1	18036	1045	37	1		1	ZNF490	19	12721450	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	1974308	12721450	46407533	227	25823											
ZSWIM4	65249	broad.mit.edu	37	chr19	13915816	13915816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagctgcggctgcccatctCcgagacgctctcccagatga	7	7	12	15	3	2	3	0	1	2	2	4	5	2	4	3	2	3	3	3	2	0	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:13915816C>T	ENST00000254323.2	+	3	755	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	189							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTGCCCATCTCCGAGACGCTC	0.637											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	39					0	0	0	0	T	13915816	C	T	13915816	3	4	135	1	0	0	0	0	1	0	0	0	18334	855	30	2	576	2	ZSWIM4	19	13915816	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	1194366	13915816	45213167	228	25824											
SAMD1	90378	broad.mit.edu	37	chr19	14199324	14199324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcagggctggcccgaggcGgatggacaggccggtgagca	7	6	18	10	3	1	1	1	1	0	0	1	4	1	3	2	7	1	2	2	7	0	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:14199324G>A	ENST00000533683.2	-	5	1491	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C		NM_138352.1	NP_612361.1	Q6SPF0	SAMD1_HUMAN	sterile alpha motif domain containing 1	508						cytoplasm|extracellular region				endometrium(3)	3		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		GGCCCGAGGCGGATGGACAGG	0.577													10	36					0	0	0	0	A	14199324	G	A	14199324	3	1	135	1	0	0	0	0	1	0	0	0	13899	1116	39	1	97	1	SAMD1	19	14199324	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	283508	14199324	44929659	229	25825											
SIN3B	23309	broad.mit.edu	37	chr19	16980676	16980676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccgcacaagcccctggacGatgtctacagcctatttttt	8	11	7	15	2	1	0	0	0	1	0	1	2	1	1	5	1	3	1	5	1	3	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:16980676G>A	ENST00000379803.1	+	14	2322	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N	SIN3B_ENST00000595541.1_Missense_Mutation_p.D328N|SIN3B_ENST00000248054.5_Missense_Mutation_p.D738N	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	770					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCCCCTGGACGATGTCTACAG	0.642													7	25					0	0	0	0	A	16980676	G	A	16980676	3	1	135	1	0	0	0	0	1	0	0	0	14414	1058	37	1	2362	1	SIN3B	19	16980676	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	2781352	16980676	42148307	230	25826											
ZNF208	7757	broad.mit.edu	37	chr19	22156351	22156351	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcttcacatttgtagggTttctctccagcatgagttgc	7	16	8	10	0	3	1	1	1	2	0	5	1	4	1	1	1	2	4	1	1	1	6			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:22156351T>G	ENST00000397126.4	-	4	1633	c.1485A>C	c.(1483-1485)aaA>aaC	p.K495N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTGTAGGGTTTCTCTCCAG	0.373													8	25					0	0	0	0	G	22156351	T	G	22156351	3	3	135	1	0	0	0	0	1	0	0	0	17861	1722	60	5	2361	5	ZNF208	19	22156351	Missense_Mutation	SNP	T	TCGA-CQ-5327-01A-01D-1683-08	5175675	22156351	36972632	231	25827											
KIRREL2	84063	broad.mit.edu	37	chr19	36357325	36357325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccccagatctggccccCgggactccccccttcccata	5	6	9	21	1	1	1	0	0	1	1	3	2	3	2	8	3	0	0	8	3	1	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:36357325C>T	ENST00000360202.5	+	15	2256	c.2058C>T	c.(2056-2058)ccC>ccT	p.P686P	KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Silent_p.P651P|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000586102.2_Silent_p.P666P	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	686	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCTGGCCCCCGGGACTCCCC	0.592													26	71					0	0	0	0	T	36357325	C	T	36357325	2	4	135	1	0	0	0	0	0	0	0	1	8377	639	23	1		1	KIRREL2	19	36357325	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	14200974	36357325	22771658	232	25828											
WDR62	284403	broad.mit.edu	37	chr19	36558321	36558321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgccatgtgaggttctggttCttggaagtctccactgagac	7	12	12	10	1	3	2	0	2	3	1	4	4	3	3	2	3	0	2	2	3	1	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:36558321C>T	ENST00000401500.2	+	6	710	c.675C>T	c.(673-675)ttC>ttT	p.F225F	WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000270301.7_Silent_p.F225F|WDR62_ENST00000388999.3_Silent_p.F225F	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	225					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGTTCTGGTTCTTGGAAGTCT	0.532													8	56					0	0	0	0	T	36558321	C	T	36558321	2	4	135	1	0	0	0	0	0	0	0	1	17409	912	32	2		2	WDR62	19	36558321	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	200996	36558321	22570662	233	25829											
ZNF568	374900	broad.mit.edu	37	chr19	37440743	37440743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtaatcagtgtggacaaGacttcagtcataaatttgac	14	12	9	6	0	3	2	3	1	0	1	3	3	3	3	0	1	0	1	0	1	4	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:37440743G>T	ENST00000415168.1	+	5	872	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.D230Y	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGTGGACAAGACTTCAGTCA	0.398													14	72					2.61681e-11	2.78479e-11	1	0	T	37440743	G	T	37440743	3	4	135	1	0	0	0	0	1	0	0	0	18094	942	33	2	706	2	ZNF568	19	37440743	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	882422	37440743	21688240	234	25830											
LGALS4	3960	broad.mit.edu	37	chr19	39299490	39299490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacttcccgccctgcaacGtgttgaagaccaccttgtcc	7	9	7	18	2	0	2	0	1	0	1	2	2	2	2	6	0	2	2	6	0	2	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:39299490G>A	ENST00000307751.4	-	3	710	c.233C>T	c.(232-234)aCg>aTg	p.T78M	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	78	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCCCTGCAACGTGTTGAAGAC	0.582													11	37					0	0	0	0	A	39299490	G	A	39299490	3	1	135	1	0	0	0	0	1	0	0	0	8798	1145	40	1	770	1	LGALS4	19	39299490	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	1858747	39299490	19829493	235	25831											
PSG6	5675	broad.mit.edu	37	chr19	43421931	43421931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgagtgcagggaggggctGagaggggtcccatggtctct	6	8	19	8	0	1	2	0	2	1	1	3	4	2	3	1	6	1	3	1	6	0	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:43421931G>A	ENST00000187910.2	-	1	79	c.14C>T	c.(13-15)tCa>tTa	p.S5L	PSG6_ENST00000292125.2_Missense_Mutation_p.S5L|PSG6_ENST00000601833.1_Intron|PSG6_ENST00000402603.4_Missense_Mutation_p.S5L	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GGGAGGGGCTGAGAGGGGTCC	0.597													31	101					0	0	0	0	A	43421931	G	A	43421931	3	1	135	1	0	0	0	0	1	0	0	0	12738	1294	45	2	1356	2	PSG6	19	43421931	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	4122441	43421931	15707052	236	25832											
CD3EAP	10849	broad.mit.edu	37	chr19	45910392	45910392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccaactttaccgcgaaGcccccagcctcagagtcccc	8	5	6	22	2	1	1	1	0	0	1	2	2	2	1	9	0	4	0	9	0	3	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:45910392G>A	ENST00000309424.3	+	2	551	c.63G>A	c.(61-63)aaG>aaA	p.K21K	CD3EAP_ENST00000589804.1_Silent_p.K23K	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	21					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TTACCGCGAAGCCCCCAGCCT	0.597													17	60					0	0	0	0	A	45910392	G	A	45910392	2	1	135	1	0	0	0	0	0	0	0	1	3041	962	34	4		4	CD3EAP	19	45910392	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	2488461	45910392	13218591	237	25833											
FUT2	2524	broad.mit.edu	37	chr19	49206875	49206875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggtggtggccgaccggcGatacctacagcaggccctgg	6	5	18	12	3	0	0	0	0	0	0	0	2	0	0	4	7	3	1	4	7	2	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:49206875G>A	ENST00000425340.2	+	2	779	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	FUT2_ENST00000391876.4_Missense_Mutation_p.R221Q	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	221					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GCCGACCGGCGATACCTACAG	0.607													23	95					0	0	0	0	A	49206875	G	A	49206875	3	1	135	1	0	0	0	0	1	0	0	0	6152	1058	37	1	664	1	FUT2	19	49206875	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	3296483	49206875	9922108	238	25834											
SIGLEC6	946	broad.mit.edu	37	chr19	52033148	52033148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccagctcaggtgtgcaGgggggttgccgtcagcatca	8	7	16	10	1	3	0	3	0	0	0	3	1	3	1	2	5	5	4	2	5	1	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:52033148G>A	ENST00000346477.3	-	4	862	c.794C>T	c.(793-795)cCt>cTt	p.P265L	SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P229L|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P281L|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P281L|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P270L|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P292L	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	281	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CAGGTGTGCAGGGGGGTTGCC	0.617													18	70					0	0	0	0	A	52033148	G	A	52033148	3	1	135	1	0	0	0	0	1	0	0	0	14400	1000	35	4	535	4	SIGLEC6	19	52033148	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	2826273	52033148	7095835	239	25835											
FPR2	2358	broad.mit.edu	37	chr19	52272800	52272800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccttcttcaacagctgcCtcaaccccatgctttacgtc	7	12	6	16	1	3	0	2	0	1	0	4	0	3	0	4	1	6	2	4	1	3	4			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:52272800C>T	ENST00000598776.1	+	2	1661	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	FPR2_ENST00000340023.6_Missense_Mutation_p.L297F|FPR2_ENST00000598953.1_Missense_Mutation_p.L297F	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	297					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CAACAGCTGCCTCAACCCCAT	0.542													23	52					0	0	0	0	T	52272800	C	T	52272800	3	4	135	1	0	0	0	0	1	0	0	0	6086	681	24	4	891	4	FPR2	19	52272800	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	239652	52272800	6856183	240	25836											
ZNF580	51157	broad.mit.edu	37	chr19	56154207	56154207	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggctgcagagccaccgCgtgtcgcactcggacctcaa	7	6	12	16	5	1	1	1	0	0	1	3	2	1	2	3	2	3	3	3	2	1	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:56154207C>T	ENST00000543039.1	+	1	790	c.333C>T	c.(331-333)cgC>cgT	p.R111R	ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000325333.5_Silent_p.R111R|ZNF580_ENST00000545125.1_Silent_p.R111R	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGAGCCACCGCGTGTCGCACT	0.731													3	17					0	0	0	0	T	56154207	C	T	56154207	2	4	135	1	0	0	0	0	0	0	0	1	18107	755	27	1		1	ZNF580	19	56154207	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	3881407	56154207	2974776	241	25837											
PDYN	5173	broad.mit.edu	37	chr20	1961196	1961196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcttggggtatttgcGcaaaaagcccccatagcgtt	8	11	10	12	2	1	0	0	0	1	0	2	0	2	0	3	2	3	4	3	2	4	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:1961196G>A	ENST00000217305.2	-	4	763	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	PDYN_ENST00000540134.1_Missense_Mutation_p.R180C|PDYN_ENST00000539905.1_Missense_Mutation_p.R180C|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	180					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.R180C(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGTATTTGCGCAAAAAGCCC	0.602													26	66					0	0	0	0	A	1961196	G	A	1961196	3	1	135	1	0	0	0	0	1	0	0	0	11770	1087	38	1	230	1	PDYN	20	1961196	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08		1961196	61064324	242	25838											
TGM6	343641	broad.mit.edu	37	chr20	2375141	2375141	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcggtcgaggaatggCgctgcccaccacacccagga	9	4	14	14	3	0	0	0	0	0	0	1	3	0	2	3	5	2	2	3	5	1	0	rs147506152	by1000genomes	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:2375141C>T	ENST00000202625.2	+	2	112	c.51C>T	c.(49-51)ggC>ggT	p.G17G	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G17G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	17					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G17G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CGAGGAATGGCGCTGCCCACC	0.647													3	28					0	0	0	0	T	2375141	C	T	2375141	2	4	135	1	0	0	0	0	0	0	0	1	15928	755	27	1		1	TGM6	20	2375141	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	413945	2375141	60650379	243	25839											
PAK7	57144	broad.mit.edu	37	chr20	9547019	9547019	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgaggaccatctgtgctcGatcgtaatccacctgggaag	9	9	12	11	2	1	1	0	1	1	0	4	4	2	3	3	2	1	3	3	2	2	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:9547019G>A	ENST00000378429.3	-	6	1549	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PAK7_ENST00000378423.1_Nonsense_Mutation_p.R335*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.R335*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	335	Linker.		R -> P (in dbSNP:rs11700112).				ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCTGTGCTCGATCGTAATCC	0.537													23	90					0	0	0	0	A	9547019	G	A	9547019	4	1	135	1	0	0	0	0	0	1	0	0	11476	1066	37	1	1180	1	PAK7	20	9547019	Nonsense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	7171878	9547019	53478501	244	25840											
NCOA6	23054	broad.mit.edu	37	chr20	33329679	33329679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggatccgaaggctgcccatCctttttggactgatcttcag	8	12	10	11	1	2	1	1	1	1	0	4	4	4	3	3	3	1	1	3	3	1	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:33329679C>T	ENST00000374796.2	-	12	6951	c.4381G>A	c.(4381-4383)Gat>Aat	p.D1461N	NCOA6_ENST00000359003.2_Missense_Mutation_p.D1461N			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1461					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGCTGCCCATCCTTTTTGGAC	0.448													19	67					0	0	0	0	T	33329679	C	T	33329679	3	4	135	1	0	0	0	0	1	0	0	0	10303	855	30	2	1830	2	NCOA6	20	33329679	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	23782660	33329679	29695841	245	25841											
NCOA3	8202	broad.mit.edu	37	chr20	46256365	46256365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccatacatttaattgccGtatgttgatgaaaacaccac	15	11	6	9	1	0	2	0	2	0	0	0	2	0	2	3	0	4	2	3	0	6	6			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:46256365G>A	ENST00000372004.3	+	7	809	c.593G>A	c.(592-594)cGt>cAt	p.R198H	NCOA3_ENST00000371997.3_Missense_Mutation_p.R198H|NCOA3_ENST00000371998.3_Missense_Mutation_p.R198H|NCOA3_ENST00000341724.6_Missense_Mutation_p.R198H|NCOA3_ENST00000497292.1_3'UTR	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	198					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTTAATTGCCGTATGTTGATG	0.383													24	60					0	0	0	0	A	46256365	G	A	46256365	3	1	135	1	0	0	0	0	1	0	0	0	10300	1145	40	1	611	1	NCOA3	20	46256365	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	12926686	46256365	16769155	246	25842											
ADRM1	11047	broad.mit.edu	37	chr20	60883183	60883183	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatctggggagtcgctgccGcagaccgcggatgagatcca	8	6	14	13	4	1	2	0	1	1	2	3	5	2	4	4	3	1	2	4	3	0	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:60883183G>A	ENST00000253003.2	+	8	1009	c.963G>A	c.(961-963)ccG>ccA	p.P321P	LAMA5_ENST00000492698.1_5'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	321					proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AGTCGCTGCCGCAGACCGCGG	0.647													6	17					0	0	0	0	A	60883183	G	A	60883183	2	1	135	1	0	0	0	0	0	0	0	1	345	1074	38	1		1	ADRM1	20	60883183	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	14626818	60883183	2142337	247	25843											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812666	31812666	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcttacaactgcagctcTggaaacttctcctcctgctg	8	13	7	13	0	3	0	0	0	3	0	5	1	4	1	2	1	6	3	2	1	3	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr21:31812666T>A	ENST00000334067.3	+	1	70	c.21T>A	c.(19-21)tcT>tcA	p.S7S		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	7						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						ACTGCAGCTCTGGAAACTTCT	0.438													14	62					0	0	0	0	A	31812666	T	A	31812666	2	1	135	1	0	0	0	0	0	0	0	1	8578	1567	55	5		5	KRTAP15-1	21	31812666	Silent	SNP	T	TCGA-CQ-5327-01A-01D-1683-08		31812666	16317229	248	25844											
KCNJ15	3772	broad.mit.edu	37	chr21	39671493	39671493	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggtgagcccatttcaaatCataccccctgcatcatgaaa	12	9	6	14	1	3	2	3	2	0	0	3	2	3	2	4	1	3	1	4	1	3	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr21:39671493C>G	ENST00000398930.1	+	4	664	c.310C>G	c.(310-312)Cat>Gat	p.H104D	KCNJ15_ENST00000398932.1_Missense_Mutation_p.H104D|KCNJ15_ENST00000328656.3_Missense_Mutation_p.H104D|KCNJ15_ENST00000398938.2_Missense_Mutation_p.H104D|KCNJ15_ENST00000398934.1_Missense_Mutation_p.H104D			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	104					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CATTTCAAATCATACCCCCTG	0.493													20	73					0	0	0	0	G	39671493	C	G	39671493	3	3	135	1	0	0	0	0	1	0	0	0	8102	826	29	2	312	2	KCNJ15	21	39671493	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	7858827	39671493	8458402	249	25845											
AIFM3	150209	broad.mit.edu	37	chr22	21322208	21322208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatctgtgctcctgcctGccggccatcctcaggccact	4	9	8	20	1	2	0	1	0	1	0	4	0	4	0	8	2	3	1	8	2	0	0			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:21322208G>A	ENST00000335375.5	+	2	157	c.50G>A	c.(49-51)tGc>tAc	p.C17Y	AIFM3_ENST00000399167.2_5'UTR|AIFM3_ENST00000405089.1_5'UTR|AIFM3_ENST00000399163.2_5'UTR|AIFM3_ENST00000333607.6_5'UTR|AIFM3_ENST00000440238.2_5'UTR					apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCTCCTGCCTGCCGGCCATCC	0.662													10	29					0	0	0	0	A	21322208	G	A	21322208	3	1	135	1	0	0	0	0	1	0	0	0	428	1334	46	4		4	AIFM3	22	21322208	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08		21322208	29982358	250	25846											
ADRBK2	157	broad.mit.edu	37	chr22	26118286	26118286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtttgtgcagtggaagaaaGagttgaacgaaaccttcaag	15	9	12	5	1	1	3	1	1	0	2	1	5	1	4	1	1	3	3	1	1	5	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:26118286G>A	ENST00000324198.5	+	21	2128	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	646	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GTGGAAGAAAGAGTTGAACGA	0.552													23	84					0	0	0	0	A	26118286	G	A	26118286	3	1	135	1	0	0	0	0	1	0	0	0	344	943	33	2	2018	2	ADRBK2	22	26118286	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	4796078	26118286	25186280	251	25847											
TST	7263	broad.mit.edu	37	chr22	37407206	37407206	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggccacgtggcaggcggtGactcccttgcggcacgtggc	6	6	16	13	4	0	1	0	1	0	0	1	1	1	1	2	6	1	2	2	6	1	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:37407206G>A	ENST00000403892.3	-	2	1490	c.756C>T	c.(754-756)gtC>gtT	p.V252V	TST_ENST00000249042.3_Silent_p.V252V	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	252	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GGCAGGCGGTGACTCCCTTGC	0.642													5	30					0	0	0	0	A	37407206	G	A	37407206	2	1	135	1	0	0	0	0	0	0	0	1	16768	1277	45	2		2	TST	22	37407206	Silent	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	11288920	37407206	13897360	252	25848											
EP300	2033	broad.mit.edu	37	chr22	41547912	41547912	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagcacagaagtgaattctCaggccattgctgagaagcag	13	8	12	8	0	1	3	1	2	1	2	2	4	1	3	1	1	3	4	1	1	4	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:41547912C>T	ENST00000263253.7	+	15	4112	c.2893C>T	c.(2893-2895)Cag>Tag	p.Q965*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	965					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGTGAATTCTCAGGCCATTGC	0.478			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				11	84					0	0	0	0	T	41547912	C	T	41547912	4	4	135	1	0	0	0	0	0	1	0	0	5186	827	29	2	2951	2	EP300	22	41547912	Nonsense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	4140706	41547912	9756654	253	25849											
EFCAB6	64800	broad.mit.edu	37	chr22	43924776	43924776	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcgttgtaggagatttttGaagacagcgtcttatcgtaa	11	14	11	5	3	1	3	0	1	1	2	3	4	1	3	0	1	1	3	0	1	4	6			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:43924776G>C	ENST00000262726.7	-	32	4716	c.4463C>G	c.(4462-4464)tCa>tGa	p.S1488*	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.S1336*|EFCAB6-AS1_ENST00000431327.2_RNA	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1488	EF-hand 17.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGAGATTTTTGAAGACAGCGT	0.512													8	91					0	0	0	0	C	43924776	G	C	43924776	4	2	135	1	0	0	0	0	0	1	0	0	4975	1294	45	2	46	2	EFCAB6	22	43924776	Nonsense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	2376864	43924776	7379790	254	25850											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659487	50659487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggatgttccaccgtggccGagtgggagccacatctgaca	9	8	13	11	2	1	1	0	1	1	0	2	4	2	3	4	3	1	1	4	3	0	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:50659487G>A	ENST00000439308.2	-	16	3793	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.R1101W	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1101	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACCGTGGCCGAGTGGGAGCC	0.597													20	111					0	0	0	0	A	50659487	G	A	50659487	3	1	135	1	0	0	0	0	1	0	0	0	16866	1057	37	1	2198	1	TUBGCP6	22	50659487	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	6734711	50659487	645079	255	25851											
PFKFB1	5207	broad.mit.edu	37	chrX	54971913	54971913	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgatatttatcttggtctcGcagtgcaaattcttcagggt	8	15	10	8	2	4	0	1	0	3	0	5	1	4	0	0	2	1	2	0	2	3	6			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:54971913G>A	ENST00000375006.3	-	10	1127	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*	PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.R288*|PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.R153*	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	353	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TCTTGGTCTCGCAGTGCAAAT	0.473													7	19					0	0	0	0	A	54971913	G	A	54971913	4	1	135	1	0	0	0	0	0	1	0	0	11832	1095	38	1	378	1	PFKFB1	23	54971913	Nonsense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08		54971913	100298647	256	25852											
EFNB1	1947	broad.mit.edu	37	chrX	68058611	68058611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcctgtagcacagttctcGaccccaacgtgttggtcacc	7	10	9	15	2	2	0	1	0	1	0	3	1	2	0	4	1	3	4	4	1	2	3			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:68058611G>A	ENST00000204961.4	+	2	1060	c.280G>A	c.(280-282)Gac>Aac	p.D94N		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	94					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CACAGTTCTCGACCCCAACGT	0.567													6	12					0	0	0	0	A	68058611	G	A	68058611	3	1	135	1	0	0	0	0	1	0	0	0	4991	1058	37	1	286	1	EFNB1	23	68058611	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	13086698	68058611	87211949	257	25853											
CYLC1	1538	broad.mit.edu	37	chrX	83127918	83127918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgacaaaagaaaactagaaGaaggccagaaaccagctcat	21	4	8	8	0	1	5	1	1	0	4	1	5	1	5	2	1	3	1	2	1	8	1			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:83127918G>C	ENST00000329312.4	+	4	239	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	68					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAAACTAGAAGAAGGCCAGAA	0.343													3	19					0	0	0	0	C	83127918	G	C	83127918	3	2	135	1	0	0	0	0	1	0	0	0	4173	943	33	2	216	2	CYLC1	23	83127918	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	15069307	83127918	72142642	258	25854											
LHFPL1	340596	broad.mit.edu	37	chrX	111874751	111874751	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtttcttccagcaaagcaaGagagccaggtgcagatcaac	13	7	11	10	0	2	2	1	0	1	2	3	3	3	2	2	2	5	4	2	2	3	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:111874751G>C	ENST00000371968.3	-	4	799	c.560C>G	c.(559-561)tCt>tGt	p.S187C	LHFPL1_ENST00000478229.1_5'UTR|LHFPL1_ENST00000536453.1_Missense_Mutation_p.S154C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	187						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						AGCAAAGCAAGAGAGCCAGGT	0.512													21	74					0	0	0	0	C	111874751	G	C	111874751	3	2	135	1	0	0	0	0	1	0	0	0	8818	942	33	2	106	2	LHFPL1	23	111874751	Missense_Mutation	SNP	G	TCGA-CQ-5327-01A-01D-1683-08	28746833	111874751	43395809	259	25855											
GPR50	9248	broad.mit.edu	37	chrX	150349840	150349840	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctactgtagtcactacCagtaccaatgattaccatga	13	10	6	12	0	1	2	1	2	0	0	1	3	1	2	4	0	4	2	4	0	6	5			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:150349840C>G	ENST00000218316.3	+	2	1854	c.1785C>G	c.(1783-1785)acC>acG	p.T595T		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	595	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTCACTACCAGTACCAATG	0.537													23	157					0	0	0	0	G	150349840	C	G	150349840	2	3	135	1	0	0	0	0	0	0	0	1	6746	581	21	4		4	GPR50	23	150349840	Silent	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	38475089	150349840	4920720	260	25856											
MAGEA10	4109	broad.mit.edu	37	chrX	151303720	151303720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgggtaaagactcactgtCtggcaggacctgtagggtgc	8	10	14	9	0	3	1	1	0	2	1	3	2	3	2	1	4	1	3	1	4	3	2			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:151303720C>T	ENST00000370323.4	-	4	689	c.373G>A	c.(373-375)Gac>Aac	p.D125N	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.D125N	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	125								p.D125H(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GACTCACTGTCTGGCAGGACC	0.502													47	146					0	0	0	0	T	151303720	C	T	151303720	3	4	135	1	0	0	0	0	1	0	0	0	9229	913	32	2	740	2	MAGEA10	23	151303720	Missense_Mutation	SNP	C	TCGA-CQ-5327-01A-01D-1683-08	953880	151303720	3966840	261	25857											
NOL9	79707	broad.mit.edu	37	chr1	6609659	6609659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatgtaggatgaacccGgatagctggttatgaagttt	14	11	11	5	1	0	2	0	2	0	0	0	4	0	4	1	3	2	4	1	3	7	4	rs144983671	byFrequency	TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr1:6609659G>A	ENST00000377705.5	-	3	748	c.716C>T	c.(715-717)cCg>cTg	p.P239L		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	239					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGAACCCGGATAGCTGGT	0.408													3	58					0	0	0	0	A	6609659	G	A	6609659	3	1	136	1	0	0	0	0	1	0	0	0	10598	1116	39	1	1432	1	NOL9	1	6609659	Missense_Mutation	SNP	G	TCGA-CQ-5329-01A-01D-1683-08		6609659	242640962	1	25858											
DOCK7	85440	broad.mit.edu	37	chr1	63027310	63027310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtatggatagacgaaacaGcaacaacttcaacattaaaa	19	8	7	7	1	1	1	1	0	0	1	1	3	1	2	0	1	5	2	0	1	8	4			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr1:63027310G>A	ENST00000251157.5	-	19	2210	c.2177C>T	c.(2176-2178)gCt>gTt	p.A726V	DOCK7_ENST00000340370.5_Missense_Mutation_p.A726V	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	726	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGACGAAACAGCAACAACTTC	0.289													3	56					0	0	0	0	A	63027310	G	A	63027310	3	1	136	1	0	0	0	0	1	0	0	0	4728	971	34	4	4276	4	DOCK7	1	63027310	Missense_Mutation	SNP	G	TCGA-CQ-5329-01A-01D-1683-08	56417651	63027310	186223311	2	25859											
ADCY10	55811	broad.mit.edu	37	chr1	167868860	167868860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgctgatgtggccagcaGccagtcctggcaagaaggca	11	6	13	11	0	0	2	0	1	0	1	1	2	1	2	3	3	3	4	3	3	2	0			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr1:167868860G>A	ENST00000367848.1	-	6	664	c.167C>T	c.(166-168)gCt>gTt	p.A56V	ADCY10_ENST00000545172.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.A148V			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	148	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|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						GTGGCCAGCAGCCAGTCCTGG	0.493													9	20					0	0	0	0	A	167868860	G	A	167868860	3	1	136	1	0	0	0	0	1	0	0	0	293	971	34	4	4501	4	ADCY10	1	167868860	Missense_Mutation	SNP	G	TCGA-CQ-5329-01A-01D-1683-08	104841550	167868860	81381761	3	25860											
IARS2	55699	broad.mit.edu	37	chr1	220276851	220276851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggcggcagataaagtagCatctgttgcttctactttgg	9	13	11	8	1	2	1	0	0	2	1	2	1	2	1	0	3	3	5	0	3	4	6			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr1:220276851C>A	ENST00000366922.1	+	8	1128	c.797C>A	c.(796-798)gCa>gAa	p.A266E	IARS2_ENST00000302637.5_Missense_Mutation_p.A338E			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	338					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GATAAAGTAGCATCTGTTGCT	0.348													5	73					0.184627	0.199699	1	0	A	220276851	C	A	220276851	3	1	136	1	0	0	0	0	1	0	0	0	7527	710	25	4	1043	4	IARS2	1	220276851	Missense_Mutation	SNP	C	TCGA-CQ-5329-01A-01D-1683-08	52407991	220276851	28973770	4	25861											
ZNF512	84450	broad.mit.edu	37	chr2	27822848	27822848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatgtcagggaggaagcaaCggcctaaaactcagcccaat	14	7	10	10	1	2	0	2	0	0	0	2	2	2	2	2	3	4	1	2	3	6	2			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr2:27822848C>T	ENST00000355467.4	+	5	468	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Missense_Mutation_p.R52W|ZNF512_ENST00000556601.1_Silent_p.N39N|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000379717.1_Missense_Mutation_p.R128W|ZNF512_ENST00000416005.2_Intron			Q96ME7	ZN512_HUMAN	zinc finger protein 512	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GAGGAAGCAACGGCCTAAAAC	0.478													15	15					0	0	0	0	T	27822848	C	T	27822848	3	4	136	1	0	0	0	0	1	0	0	0	18051	527	19	1	403	1	ZNF512	2	27822848	Missense_Mutation	SNP	C	TCGA-CQ-5329-01A-01D-1683-08		27822848	215376525	5	25862											
SATB2	23314	broad.mit.edu	37	chr2	200298060	200298060	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggggagaggcattaataCcttgggcctgggccgcagag	10	6	17	8	1	0	3	0	0	0	3	0	4	0	3	3	5	1	2	3	5	2	3			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr2:200298060C>A	ENST00000417098.1	-	3	1163		c.e3+1		SATB2_ENST00000428695.1_Splice_Site|SATB2_ENST00000260926.5_Splice_Site|SATB2_ENST00000443023.1_Intron|SATB2_ENST00000457245.1_Splice_Site	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2							cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGCATTAATACCTTGGGCCTG	0.498													12	27					0.00136819	0.00164805	1	0	A	200298060	C	A	200298060	5	1	136	1	0	0	0	0	0	0	1	0	13940	521	18	4	1890	4	SATB2	2	200298060	Splice_Site	SNP	C	TCGA-CQ-5329-01A-01D-1683-08	172475212	200298060	42901313	6	25863											
MAGEF1	64110	broad.mit.edu	37	chr3	184428979	184428983	+	Frame_Shift_Del	DEL	TCGGA	TCGGA	-																															atcttccataataagcctctTcggatacccaaagaggaaat																										TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr3:184428979_184428983delTCGGA	ENST00000317897.3	-	1	853_857	c.627_631delTCCGA	c.(625-633)taagfs	p.YPK209fs		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	209	MAGE.									breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			ATAAGCCTCTTCGGATACCCAAAGA	0.507													31	59	---	---	---	---					-	184428983	TCGGA	-	184428979	7	5	136	1	0	1	0	1	0	0	0	0	9256	1792	62	0	296	0	MAGEF1	3	184428979	Frame_Shift_Del	DEL	TCGGA	TCGA-CQ-5329-01A-01D-1683-08		184428979	13593451	7	25864											
PDHA2	5161	broad.mit.edu	37	chr4	96761394	96761394	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtaactcctcaaatgaCgctacatttgaaattaagaa	15	11	5	10	2	1	3	1	2	0	1	3	3	3	3	2	0	2	2	2	0	6	4	rs143281239		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr4:96761394C>T	ENST00000295266.4	+	1	156	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	31					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.D31E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCTCAAATGACGCTACATTTG	0.502													4	21					0	0	0	0	T	96761394	C	T	96761394	2	4	136	1	0	0	0	0	0	0	0	1	11736	535	19	1		1	PDHA2	4	96761394	Silent	SNP	C	TCGA-CQ-5329-01A-01D-1683-08		96761394	94392882	8	25865											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745185	140745185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtcatggaccatggaaccCcgcccctctctacagaaagc	10	6	8	17	2	2	1	1	0	1	1	3	3	2	3	6	2	3	0	6	2	3	1			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr5:140745185C>A	ENST00000518069.1	+	1	1288	c.1288C>A	c.(1288-1290)Ccg>Acg	p.P430T	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGGAACCCCGCCCCTCTC	0.458													25	62					6.32553e-13	8.38133e-13	1	0	A	140745185	C	A	140745185	3	1	136	1	0	0	0	0	1	0	0	0	11628	623	22	4	1290	4	PCDHGA5	5	140745185	Missense_Mutation	SNP	C	TCGA-CQ-5329-01A-01D-1683-08		140745185	40170075	9	25866											
KCNK17	89822	broad.mit.edu	37	chr6	39271892	39271892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagagcccgccagccaccGcgccttgtcaggatcctgtg	6	6	12	17	3	1	1	1	0	0	1	2	2	2	2	7	1	2	0	7	1	0	1			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:39271892G>A	ENST00000453413.2	-	4	669	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	KCNK17_ENST00000373231.4_Missense_Mutation_p.R177W	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	177						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GCCAGCCACCGCGCCTTGTCA	0.672													8	32					0	0	0	0	A	39271892	G	A	39271892	3	1	136	1	0	0	0	0	1	0	0	0	8117	1086	38	1	609	1	KCNK17	6	39271892	Missense_Mutation	SNP	G	TCGA-CQ-5329-01A-01D-1683-08		39271892	131843175	10	25867											
TJAP1	93643	broad.mit.edu	37	chr6	43471425	43471425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcaacaagtcccacttccGaaaccacaagtttgccgatg	12	8	8	13	2	0	0	0	0	0	0	2	2	2	0	4	0	4	2	4	0	4	2			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:43471425G>A	ENST00000372444.2	+	10	963	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372452.1_Missense_Mutation_p.R177Q|TJAP1_ENST00000259751.1_Missense_Mutation_p.R177Q|TJAP1_ENST00000438588.2_Missense_Mutation_p.R187Q|TJAP1_ENST00000436109.2_Missense_Mutation_p.R177Q|TJAP1_ENST00000372445.5_Missense_Mutation_p.R187Q|TJAP1_ENST00000372449.1_Missense_Mutation_p.R187Q	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	187						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCCACTTCCGAAACCACAAG	0.562													8	36					0	0	0	0	A	43471425	G	A	43471425	3	1	136	1	0	0	0	0	1	0	0	0	16022	1058	37	1	586	1	TJAP1	6	43471425	Missense_Mutation	SNP	G	TCGA-CQ-5329-01A-01D-1683-08	4199533	43471425	127643642	11	25868											
FILIP1	27145	broad.mit.edu	37	chr6	76023395	76023395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacttcggcttttaagtctCgacttttagcttcttccaac	7	17	6	11	2	2	0	0	0	2	0	5	1	3	0	1	1	3	3	1	1	4	8			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:76023395C>T	ENST00000393004.2	-	5	2374	c.2153G>A	c.(2152-2154)cGa>cAa	p.R718Q	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R619Q|FILIP1_ENST00000237172.7_Missense_Mutation_p.R718Q			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	718										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTTAAGTCTCGACTTTTAGC	0.403													36	77					0	0	0	0	T	76023395	C	T	76023395	3	4	136	1	0	0	0	0	1	0	0	0	5939	884	31	1	1496	1	FILIP1	6	76023395	Missense_Mutation	SNP	C	TCGA-CQ-5329-01A-01D-1683-08	32551970	76023395	95091672	12	25869											
FNDC1	84624	broad.mit.edu	37	chr6	159653380	159653380	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcagccccgcccaggggcGcccccctcggcttcggcctc	3	4	12	22	5	0	0	0	0	0	0	3	0	0	0	7	4	1	2	7	4	0	1			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:159653380G>A	ENST00000297267.9	+	11	2036	c.1836G>A	c.(1834-1836)gcG>gcA	p.A612A	FNDC1_ENST00000340366.6_Silent_p.A549A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	612						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCAGGGGCGCCCCCCTCGG	0.687													11	28					0	0	0	0	A	159653380	G	A	159653380	2	1	136	1	0	0	0	0	0	0	0	1	6013	1074	38	1		1	FNDC1	6	159653380	Silent	SNP	G	TCGA-CQ-5329-01A-01D-1683-08	83629985	159653380	11461687	13	25870											
PRSS1	5644	broad.mit.edu	37	chr7	142459656	142459656	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagactgggagagcacaacAtcgaagtcctggaggggaat	13	6	15	7	1	0	2	0	1	0	2	2	7	1	4	1	4	2	1	1	4	3	0			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr7:142459656A>G	ENST00000486171.1	+	4	291	c.274A>G	c.(274-276)Atc>Gtc	p.I92V	PRSS1_ENST00000311737.7_Missense_Mutation_p.I78V			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	78	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGAGCACAACATCGAAGTCCT	0.552													7	132					0	0	0	0	G	142459656	A	G	142459656	3	3	136	1	0	0	0	0	1	0	0	0	12693	217	8	5	242	5	PRSS1	7	142459656	Missense_Mutation	SNP	A	TCGA-CQ-5329-01A-01D-1683-08		142459656	16679007	14	25871											
FRMD3	257019	broad.mit.edu	37	chr9	85950554	85950554	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcgtaatcaccaagctcaGctgtaatgagtgaaaaaata	17	9	8	7	1	2	2	2	2	0	0	3	3	2	2	1	0	2	4	1	0	7	3			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr9:85950554G>A	ENST00000304195.3	-	6	679	c.472_splice	c.e6-1	p.A158_splice	FRMD3_ENST00000376438.1_Splice_Site_p.A158_splice	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	158	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						ACCAAGCTCAGCTGTAATGAG	0.413													10	23					0	0	0	0	A	85950554	G	A	85950554	5	1	136	1	0	0	0	0	0	0	1	0	6098	985	34	4	1356	4	FRMD3	9	85950554	Splice_Site	SNP	G	TCGA-CQ-5329-01A-01D-1683-08		85950554	55262877	15	25872											
LPPR1	54886	broad.mit.edu	37	chr9	104048520	104048520	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcataagattcacaggTgagtacaagatggtgctgaa	15	9	12	5	0	2	4	2	2	0	2	2	5	2	5	0	3	2	2	0	3	4	3			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr9:104048520T>A	ENST00000374874.3	+	4	824		c.e4+2		LPPR1_ENST00000395056.2_Splice_Site	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN								integral to membrane	catalytic activity										GATTCACAGGTGAGTACAAGA	0.373													13	38					0	0	0	0	A	104048520	T	A	104048520	5	1	136	1	0	0	0	0	0	0	1	0	8988	1710	59	5	397	5	LPPR1	9	104048520	Splice_Site	SNP	T	TCGA-CQ-5329-01A-01D-1683-08	18097966	104048520	37164911	16	25873											
NOTCH1	4851	broad.mit.edu	37	chr9	139393579	139393579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccaggtcatctacggCgttgacgtcggcgtgtgagt	6	10	13	12	5	3	2	2	2	1	0	4	2	3	2	1	3	1	1	1	3	1	2			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr9:139393579C>T	ENST00000277541.6	-	32	6142	c.6067G>A	c.(6067-6069)Gcc>Acc	p.A2023T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2023					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCATCTACGGCGTTGACGTCG	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			44	33					0	0	0	0	T	139393579	C	T	139393579	3	4	136	1	0	0	0	0	1	0	0	0	10617	768	27	1	1612	1	NOTCH1	9	139393579	Missense_Mutation	SNP	C	TCGA-CQ-5329-01A-01D-1683-08	35345059	139393579	1819852	17	25874											
ADAM12	8038	broad.mit.edu	37	chr10	127724762	127724762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggggtctggcagggaCgctaggtgcacgtggagccc	6	6	19	10	2	1	0	0	0	1	0	1	2	1	2	1	7	2	4	1	7	1	1			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr10:127724762C>T	ENST00000368679.4	-	21	2800	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	831					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTGGCAGGGACGCTAGGTGCA	0.562													4	43					0	0	0	0	T	127724762	C	T	127724762	3	4	136	1	0	0	0	0	1	0	0	0	236	536	19	1	250	1	ADAM12	10	127724762	Missense_Mutation	SNP	C	TCGA-CQ-5329-01A-01D-1683-08		127724762	7809985	18	25875											
OR52N1	79473	broad.mit.edu	37	chr11	5809766	5809766	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaggcaggctttaaaatcaAtctccttgagattaaaccac	14	10	7	10	1	2	1	1	1	1	1	3	3	2	1	2	2	1	2	2	2	5	4			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:5809766A>G	ENST00000317078.1	-	1	280	c.281T>C	c.(280-282)aTt>aCt	p.I94T	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TTTAAAATCAATCTCCTTGAG	0.502													24	95					0	0	0	0	G	5809766	A	G	5809766	3	3	136	1	0	0	0	0	1	0	0	0	11198	101	4	5	684	5	OR52N1	11	5809766	Missense_Mutation	SNP	A	TCGA-CQ-5329-01A-01D-1683-08		5809766	129196750	19	25876											
MICAL2	9645	broad.mit.edu	37	chr11	12278373	12278373	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccttaacctgggaggcagCgacacgtgttacttctgtaa	9	10	10	12	2	1	0	0	0	1	0	1	2	1	1	3	2	3	3	3	2	3	4			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:12278373C>T	ENST00000256194.4	+	24	3285	c.2997C>T	c.(2995-2997)agC>agT	p.S999S	MICAL2_ENST00000537344.1_Silent_p.S809S|MICAL2_ENST00000527546.1_Silent_p.S809S|MICAL2_ENST00000342902.5_Silent_p.S978S|MICAL2_ENST00000379612.3_Silent_p.S773S	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	999						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGGGAGGCAGCGACACGTGTT	0.537													11	43					0	0	0	0	T	12278373	C	T	12278373	2	4	136	1	0	0	0	0	0	0	0	1	9639	767	27	1		1	MICAL2	11	12278373	Silent	SNP	C	TCGA-CQ-5329-01A-01D-1683-08	6468607	12278373	122728143	20	25877											
KCNA4	3739	broad.mit.edu	37	chr11	30032556	30032556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaagttagagacaatcactGgcactggcaaagcaatggtt	15	9	10	7	0	1	1	1	0	0	1	1	2	1	1	0	3	1	5	0	3	6	3			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:30032556G>A	ENST00000328224.6	-	2	2903	c.1670C>T	c.(1669-1671)cCa>cTa	p.P557L		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	557						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GACAATCACTGGCACTGGCAA	0.498													25	25					0	0	0	0	A	30032556	G	A	30032556	3	1	136	1	0	0	0	0	1	0	0	0	8058	1348	47	4	295	4	KCNA4	11	30032556	Missense_Mutation	SNP	G	TCGA-CQ-5329-01A-01D-1683-08	17754183	30032556	104973960	21	25878											
SIDT2	51092	broad.mit.edu	37	chr11	117054508	117054508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcagcgcaaagacttccCcagcaacagcttttatgtgg	10	9	9	13	1	0	1	0	0	0	1	1	1	1	1	3	1	5	4	3	1	3	3			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:117054508C>T	ENST00000324225.4	+	7	1247	c.716C>T	c.(715-717)cCc>cTc	p.P239L	SIDT2_ENST00000530948.1_3'UTR|SIDT2_ENST00000431081.2_Missense_Mutation_p.P239L	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	239						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		AAAGACTTCCCCAGCAACAGC	0.473													12	37					0	0	0	0	T	117054508	C	T	117054508	3	4	136	1	0	0	0	0	1	0	0	0	14391	623	22	4	742	4	SIDT2	11	117054508	Missense_Mutation	SNP	C	TCGA-CQ-5329-01A-01D-1683-08	87021952	117054508	17952008	22	25879											
SORL1	6653	broad.mit.edu	37	chr11	121445040	121445050	+	Frame_Shift_Del	DEL	ACTGTGGAGAC	ACTGTGGAGAC	-																															taaatgtgaccttgaggatgActgtggagacaacagtgatg																										TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:121445040_121445050delACTGTGGAGAC	ENST00000260197.7	+	24	3557_3567	c.3428_3438delACTGTGGAGAC	c.(3427-3438)gfs	p.DCGD1143fs	SORL1_ENST00000525532.1_Frame_Shift_Del_p.DCGD87fs	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1143	LDL-receptor class A 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTTGAGGATGACTGTGGAGACAACAGTGATG	0.512													8	99	---	---	---	---					-	121445050	ACTGTGGAGAC	-	121445040	7	5	136	1	0	1	0	1	0	0	0	0	15022	275	10	0	3522	0	SORL1	11	121445040	Frame_Shift_Del	DEL	ACTGTGGAGAC	TCGA-CQ-5329-01A-01D-1683-08	4390532	121445040	13561476	23	25880											
VWF	7450	broad.mit.edu	37	chr12	6076766	6076766	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgatcatcacagtcttcccGggctggaagcagaggcacca	10	7	11	13	2	3	1	2	0	1	1	5	3	4	2	2	3	1	3	2	3	1	1			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr12:6076766G>T	ENST00000261405.5	-	47	8027	c.7773C>A	c.(7771-7773)ccC>ccA	p.P2591P		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2591	VWFC 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGTCTTCCCGGGCTGGAAGC	0.622													4	125					0.014758	0.0173816	1	0	T	6076766	G	T	6076766	2	4	136	1	0	0	0	0	0	0	0	1	17342	1103	39	3		3	VWF	12	6076766	Silent	SNP	G	TCGA-CQ-5329-01A-01D-1683-08		6076766	127775129	24	25881											
KRT85	3891	broad.mit.edu	37	chr12	52758101	52758101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccctcaccttctttagaaCgacaaactcattctctgctg	9	12	5	15	1	4	1	2	0	2	1	5	2	4	1	3	0	3	1	3	0	3	4	rs141072357	byFrequency	TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr12:52758101C>T	ENST00000257901.3	-	3	754	c.679G>A	c.(679-681)Gtt>Att	p.V227I	KRT85_ENST00000544265.1_Intron	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	227	Coil 1B.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTTTAGAACGACAAACTCA	0.572													14	44					0	0	0	0	T	52758101	C	T	52758101	3	4	136	1	0	0	0	0	1	0	0	0	8551	536	19	1	872	1	KRT85	12	52758101	Missense_Mutation	SNP	C	TCGA-CQ-5329-01A-01D-1683-08	46681335	52758101	81093794	25	25882											
CCDC38	120935	broad.mit.edu	37	chr12	96288808	96288808	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatatttgctttactttttGatgcctgtgctctttttagt	5	23	7	6	0	1	2	0	2	1	0	1	2	1	2	1	0	4	2	1	0	3	9			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr12:96288808G>T	ENST00000344280.3	-	8	1288	c.731C>A	c.(730-732)tCa>tAa	p.S244*	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	244										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTACTTTTTGATGCCTGTGC	0.343													46	82					1.61004e-24	2.188e-24	1	0	T	96288808	G	T	96288808	4	4	136	1	0	0	0	0	0	1	0	0	2836	1294	45	2	996	2	CCDC38	12	96288808	Nonsense_Mutation	SNP	G	TCGA-CQ-5329-01A-01D-1683-08	43530707	96288808	37563087	26	25883											
NALCN	259232	broad.mit.edu	37	chr13	101759893	101759893	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgaacctgtgttctcGcccgacaatgaacagtggct	8	12	10	11	2	2	2	0	2	2	0	3	3	2	2	2	1	2	3	2	1	3	2			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr13:101759893G>A	ENST00000251127.6	-	22	2605	c.2524C>T	c.(2524-2526)Cga>Tga	p.R842*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	842						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGTGTTCTCGCCCGACAATG	0.498													15	35					0	0	0	0	A	101759893	G	A	101759893	4	1	136	1	0	0	0	0	0	1	0	0	10218	1095	38	1	2784	1	NALCN	13	101759893	Nonsense_Mutation	SNP	G	TCGA-CQ-5329-01A-01D-1683-08		101759893	13409985	27	25884											
OR4K15	81127	broad.mit.edu	37	chr14	20444186	20444186	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgtgttgtgctcgtccTcatttcatggtttgtgggct	3	19	12	7	1	2	0	2	0	0	0	4	0	3	0	1	2	1	5	1	2	1	4			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr14:20444186T>C	ENST00000305051.5	+	1	584	c.509T>C	c.(508-510)cTc>cCc	p.L170P		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGCTCGTCCTCATTTCATGG	0.448													3	93					0	0	0	0	C	20444186	T	C	20444186	3	2	136	1	0	0	0	0	1	0	0	0	11141	1551	54	5	511	5	OR4K15	14	20444186	Missense_Mutation	SNP	T	TCGA-CQ-5329-01A-01D-1683-08		20444186	86905354	28	25885											
TMED8	283578	broad.mit.edu	37	chr14	77809654	77809654	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgtcatagtcatcggtCgcaaactcccagcagacacg	12	7	8	14	3	2	1	2	0	0	1	5	1	3	1	2	1	2	2	2	1	3	1	rs147229178		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr14:77809654C>A	ENST00000216468.7	-	5	682	c.627G>T	c.(625-627)gcG>gcT	p.A209A		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	209	GOLD.				transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGTCATCGGTCGCAAACTCCC	0.522													4	122					0.150653	0.166347	1	0	A	77809654	C	A	77809654	2	1	136	1	0	0	0	0	0	0	0	1	16105	871	31	3		3	TMED8	14	77809654	Silent	SNP	C	TCGA-CQ-5329-01A-01D-1683-08	57365468	77809654	29539886	29	25886											
ITFG3	83986	broad.mit.edu	37	chr16	312195	312195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttcacgtcaccaggaCaggtgcccactacatcctct	8	9	6	18	1	3	0	2	0	1	0	5	1	5	1	5	2	2	0	5	2	1	2			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr16:312195C>A	ENST00000399932.3	+	7	1263	c.812C>A	c.(811-813)aCa>aAa	p.T271K	ITFG3_ENST00000442458.2_Missense_Mutation_p.T271K|ITFG3_ENST00000301678.3_Missense_Mutation_p.T271K|ITFG3_ENST00000450082.2_Missense_Mutation_p.T271K|ITFG3_ENST00000301679.2_Missense_Mutation_p.T271K|ITFG3_ENST00000600536.1_Missense_Mutation_p.T271K			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	271						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GTCACCAGGACAGGTGCCCAC	0.622													3	26					1.024e-07	1.29219e-07	1	0	A	312195	C	A	312195	3	1	136	1	0	0	0	0	1	0	0	0	7924	478	17	4	830	4	ITFG3	16	312195	Missense_Mutation	SNP	C	TCGA-CQ-5329-01A-01D-1683-08		312195	90042558	30	25887											
SERPINF1	5176	broad.mit.edu	37	chr17	1675210	1675210	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcacctctggaaaagtcaTatgggaccaggcccagagtc	11	7	12	11	0	2	1	1	0	1	1	3	3	2	3	3	4	0	1	3	4	3	1			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:1675210T>C	ENST00000254722.4	+	5	647	c.484T>C	c.(484-486)Tat>Cat	p.Y162H	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	162					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GGAAAAGTCATATGGGACCAG	0.567													7	33					0	0	0	0	C	1675210	T	C	1675210	3	2	136	1	0	0	0	0	1	0	0	0	14201	1406	49	5	498	5	SERPINF1	17	1675210	Missense_Mutation	SNP	T	TCGA-CQ-5329-01A-01D-1683-08		1675210	79520000	31	25888											
OR3A2	4995	broad.mit.edu	37	chr17	3181737	3181737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccacagtgtgggtcagtgCgttggtgaaggcacaagcca	9	7	16	9	1	1	1	1	1	0	0	1	1	1	1	2	4	2	2	2	4	2	1			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:3181737C>T	ENST00000408891.2	-	1	531	c.493G>A	c.(493-495)Gca>Aca	p.A165T		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	165					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TGGGTCAGTGCGTTGGTGAAG	0.582													21	89					0	0	0	0	T	3181737	C	T	3181737	3	4	136	1	0	0	0	0	1	0	0	0	11109	768	27	1	476	1	OR3A2	17	3181737	Missense_Mutation	SNP	C	TCGA-CQ-5329-01A-01D-1683-08	1506527	3181737	78013473	32	25889											
ATP2A3	489	broad.mit.edu	37	chr17	3850835	3850835	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagtgccaggcatgtagtGatgacagccgggaggccctc	8	6	14	13	1	0	2	0	2	0	0	1	3	0	3	4	3	2	2	4	3	1	1			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:3850835G>A	ENST00000309890.7	-	8	1095	c.945C>T	c.(943-945)atC>atT	p.I315I	ATP2A3_ENST00000352011.3_Silent_p.I315I|ATP2A3_ENST00000397035.3_Silent_p.I315I|ATP2A3_ENST00000359983.3_Silent_p.I315I|ATP2A3_ENST00000397043.3_Silent_p.I315I|ATP2A3_ENST00000397041.3_Silent_p.I315I|ATP2A3_ENST00000397039.1_5'UTR	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	315					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGCATGTAGTGATGACAGCCG	0.682													53	28					0	0	0	0	A	3850835	G	A	3850835	2	1	136	1	0	0	0	0	0	0	0	1	1142	1280	45	2		2	ATP2A3	17	3850835	Silent	SNP	G	TCGA-CQ-5329-01A-01D-1683-08	669098	3850835	77344375	33	25890											
DVL2	1856	broad.mit.edu	37	chr17	7132326	7132326	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcagcacccgcacagcGtcatcgttgctcatgttctc	6	11	7	17	3	4	0	3	0	1	0	7	0	5	0	2	0	3	5	2	0	0	2	rs141544993		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:7132326G>A	ENST00000005340.5	-	9	1278	c.996C>T	c.(994-996)gaC>gaT	p.D332D	DVL2_ENST00000575458.1_Silent_p.D326D	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	332	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CCCGCACAGCGTCATCGTTGC	0.547													46	21					0	0	0	0	A	7132326	G	A	7132326	2	1	136	1	0	0	0	0	0	0	0	1	4872	1136	40	1		1	DVL2	17	7132326	Silent	SNP	G	TCGA-CQ-5329-01A-01D-1683-08	3281491	7132326	74062884	34	25891											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	16					0	0	0	0	T	7577120	C	T	7577120	3	4	136	1	0	0	0	0	1	0	0	0	16476	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-CQ-5329-01A-01D-1683-08	444794	7577120	73618090	35	25892											
GUCY2D	3000	broad.mit.edu	37	chr17	7910382	7910382	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgtcccttcaggactGgagccgggcctcgtctttct	4	12	11	14	2	4	0	2	0	2	0	6	2	5	2	3	3	1	0	3	3	0	2			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:7910382G>A	ENST00000254854.4	+	5	1533	c.1383G>A	c.(1381-1383)ctG>ctA	p.L461L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	461					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CTTCAGGACTGGAGCCGGGCC	0.602													14	59					0	0	0	0	A	7910382	G	A	7910382	2	1	136	1	0	0	0	0	0	0	0	1	6947	1335	47	4		4	GUCY2D	17	7910382	Silent	SNP	G	TCGA-CQ-5329-01A-01D-1683-08	333262	7910382	73284828	36	25893											
DCC	1630	broad.mit.edu	37	chr18	50832067	50832067	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggaaacactggagccaaaCaacctctggtacctattcac	14	8	7	12	0	2	0	1	0	1	0	2	2	2	2	3	3	5	1	3	3	5	3			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr18:50832067C>A	ENST00000442544.2	+	13	2647	c.2031C>A	c.(2029-2031)aaC>aaA	p.N677K	DCC_ENST00000581580.1_Missense_Mutation_p.N332K|DCC_ENST00000412726.1_Missense_Mutation_p.N525K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	677	Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGAGCCAAACAACCTCTGGT	0.423													15	49					9.16793e-09	1.18512e-08	1	0	A	50832067	C	A	50832067	3	1	136	1	0	0	0	0	1	0	0	0	4314	477	17	4	2081	4	DCC	18	50832067	Missense_Mutation	SNP	C	TCGA-CQ-5329-01A-01D-1683-08		50832067	27245181	37	25894											
EMR1	2015	broad.mit.edu	37	chr19	6908712	6908712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacgcaggtctccttttgtGcacaaataaataacatcttc	12	12	7	10	1	2	0	0	0	2	0	4	1	2	1	1	2	2	2	1	2	4	5			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr19:6908712G>A	ENST00000312053.4	+	10	1088	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	EMR1_ENST00000250572.8_Missense_Mutation_p.A351T|EMR1_ENST00000381404.4_Missense_Mutation_p.A299T|EMR1_ENST00000450315.3_Missense_Mutation_p.A174T|EMR1_ENST00000381407.5_Missense_Mutation_p.A210T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	351	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTCCTTTTGTGCACAAATAAA	0.368													15	42					0	0	0	0	A	6908712	G	A	6908712	3	1	136	1	0	0	0	0	1	0	0	0	5142	1319	46	4	1089	4	EMR1	19	6908712	Missense_Mutation	SNP	G	TCGA-CQ-5329-01A-01D-1683-08		6908712	52220271	38	25895											
CACHD1	57685	broad.mit.edu	37	chr1	65047921	65047921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgtagaagcatcctataCggctcacctaacctctcccc	10	10	6	15	1	2	1	1	0	1	1	4	1	3	1	5	1	3	4	5	1	5	5			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:65047921C>T	ENST00000371073.2	+	3	344	c.344C>T	c.(343-345)aCg>aTg	p.T115M	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.T64M			Q5VU97	CAHD1_HUMAN	cache domain containing 1	115					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCATCCTATACGGCTCACCTA	0.428													29	70					0	0	0	0	T	65047921	C	T	65047921	3	4	137	1	0	0	0	0	1	0	0	0	2562	536	19	1	201	1	CACHD1	1	65047921	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08		65047921	184202700	1	25896											
AHCYL1	10768	broad.mit.edu	37	chr1	110563392	110563392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcatctgccatcatttgatgCccaccttacagagctgacag	10	10	8	13	0	2	3	1	2	1	1	2	3	2	3	3	0	4	2	3	0	1	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:110563392C>T	ENST00000369799.5	+	16	1872	c.1505C>T	c.(1504-1506)gCc>gTc	p.A502V	AHCYL1_ENST00000359172.3_Missense_Mutation_p.A455V|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A455V	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	502					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TCATTTGATGCCCACCTTACA	0.433													4	153					0	0	0	0	T	110563392	C	T	110563392	3	4	137	1	0	0	0	0	1	0	0	0	410	739	26	4	1567	4	AHCYL1	1	110563392	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	45515471	110563392	138687229	2	25897											
SPAG17	200162	broad.mit.edu	37	chr1	118629569	118629569	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgattctgtggtctagcccGtctgctctgggggatggctc	3	12	15	11	2	4	0	0	0	4	0	5	2	4	1	1	4	2	2	1	4	1	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:118629569G>A	ENST00000336338.5	-	11	1487	c.1422C>T	c.(1420-1422)gaC>gaT	p.D474D		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	474						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGTCTAGCCCGTCTGCTCTGG	0.517													28	59					0	0	0	0	A	118629569	G	A	118629569	2	1	137	1	0	0	0	0	0	0	0	1	15069	1136	40	1		1	SPAG17	1	118629569	Silent	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	8066177	118629569	130621052	3	25898											
ADAMTS4	9507	broad.mit.edu	37	chr1	161160954	161160954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccgcccaggggcgccGccgaaggatctccagaatct	7	5	12	17	4	2	1	0	0	2	1	3	3	2	2	6	3	1	0	6	3	2	0	rs114728887	by1000genomes	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:161160954G>A	ENST00000367996.4	-	9	2916	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	830	Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGGGCGCCGCCGAAGGATC	0.637													11	26					0	0	0	0	A	161160954	G	A	161160954	3	1	137	1	0	0	0	0	1	0	0	0	268	1086	38	1	29	1	ADAMTS4	1	161160954	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	42531385	161160954	88089667	4	25899											
TNR	7143	broad.mit.edu	37	chr1	175375720	175375720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctccctcctcctccactGactgtctctggaccctttct	3	14	5	19	0	2	1	0	1	2	0	7	2	6	2	6	1	1	0	6	1	0	1			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:175375720G>A	ENST00000367674.1	-	3	839	c.131C>T	c.(130-132)tCa>tTa	p.S44L	TNR_ENST00000263525.2_Missense_Mutation_p.S44L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	44					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTCCTCCACTGACTGTCTCTG	0.517													19	115					0	0	0	0	A	175375720	G	A	175375720	3	1	137	1	0	0	0	0	1	0	0	0	16432	1294	45	2	4029	2	TNR	1	175375720	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	14214766	175375720	73874901	5	25900											
ZNF648	127665	broad.mit.edu	37	chr1	182026983	182026983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tactggggagctgccccttgGacaggccaccgggtcagcgg	6	6	16	13	2	1	0	1	0	0	0	1	2	1	2	4	6	4	1	4	6	1	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:182026983G>A	ENST00000339948.3	-	2	370	c.163C>T	c.(163-165)Cca>Tca	p.P55S		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CTGCCCCTTGGACAGGCCACC	0.562													9	58					0	0	0	0	A	182026983	G	A	182026983	3	1	137	1	0	0	0	0	1	0	0	0	18158	1174	41	2	1547	2	ZNF648	1	182026983	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	6651263	182026983	67223638	6	25901											
ACTA1	58	broad.mit.edu	37	chr1	229568748	229568748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgacctggtgtcgggggcGgcccacgatggacgggaaca	7	5	17	12	4	0	1	0	1	0	0	1	4	0	3	3	6	1	0	3	6	1	0			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:229568748G>A	ENST00000366684.3	-	2	217	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	ACTA1_ENST00000366683.2_Missense_Mutation_p.R39C	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	39					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGTCGGGGGCGGCCCACGATG	0.726													5	33					0	0	0	0	A	229568748	G	A	229568748	3	1	137	1	0	0	0	0	1	0	0	0	191	1116	39	1	1042	1	ACTA1	1	229568748	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	47541765	229568748	19681873	7	25902											
CKAP2L	150468	broad.mit.edu	37	chr2	113514030	113514030	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtctttcatattgactcctAttaacctttatatctttgat	9	20	4	8	0	3	2	1	2	2	0	4	2	4	2	2	1	1	0	2	1	5	9			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr2:113514030A>G	ENST00000541405.1	-	4	946	c.423T>C	c.(421-423)aaT>aaC	p.N141N	CKAP2L_ENST00000302450.6_Silent_p.N306N			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	306						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ATTGACTCCTATTAACCTTTA	0.408													22	72					0	0	0	0	G	113514030	A	G	113514030	2	3	137	1	0	0	0	0	0	0	0	1	3473	446	16	5		5	CKAP2L	2	113514030	Silent	SNP	A	TCGA-CQ-5330-01A-01D-1683-08		113514030	129685343	8	25903											
OBSL1	23363	broad.mit.edu	37	chr2	220422717	220422717	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acgggcctcccattgtggctCcagaccacgggggcgccagc	6	5	14	16	3	0	1	0	0	0	1	2	1	2	1	5	4	1	1	5	4	0	1			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr2:220422717C>T	ENST00000404537.1	-	11	3674	c.3618G>A	c.(3616-3618)tgG>tgA	p.W1206*	OBSL1_ENST00000265317.5_Nonsense_Mutation_p.W197*|OBSL1_ENST00000373876.1_Nonsense_Mutation_p.W1206*|OBSL1_ENST00000265318.4_Nonsense_Mutation_p.W1114*|OBSL1_ENST00000603926.1_Nonsense_Mutation_p.W1206*	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1206	Ig-like 10.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CATTGTGGCTCCAGACCACGG	0.687													4	12					0	0	0	0	T	220422717	C	T	220422717	4	4	137	1	0	0	0	0	0	1	0	0	10884	856	30	2	2139	2	OBSL1	2	220422717	Nonsense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	106908687	220422717	22776656	9	25904											
WDFY1	57590	broad.mit.edu	37	chr2	224749380	224749380	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacttgtcttagccccagCgtcttggtgtcccacatctg	5	13	8	15	1	4	0	1	0	3	0	5	0	5	0	3	1	2	0	3	1	1	3	rs140777534		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr2:224749380C>G	ENST00000233055.4	-	9	1020	c.918G>C	c.(916-918)acG>acC	p.T306T		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	306						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TTAGCCCCAGCGTCTTGGTGT	0.453													57	208					0	0	0	0	G	224749380	C	G	224749380	2	3	137	1	0	0	0	0	0	0	0	1	17364	755	27	3		3	WDFY1	2	224749380	Silent	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	4326663	224749380	18449993	10	25905											
SP110	3431	broad.mit.edu	37	chr2	231067413	231067413	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatccacccttttgagcttCttttggattccgtgtctaga	6	17	8	10	1	2	3	0	2	2	1	4	4	4	4	3	1	1	1	3	1	1	7			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr2:231067413C>T	ENST00000258381.6	-	9	1007	c.930G>A	c.(928-930)aaG>aaA	p.K310K	SP110_ENST00000540870.1_Silent_p.K316K|SP110_ENST00000358662.4_Silent_p.K310K|SP110_ENST00000392048.3_Silent_p.K308K|SP110_ENST00000338556.3_Intron|SP110_ENST00000258382.5_Silent_p.K310K	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	310					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TTTTGAGCTTCTTTTGGATTC	0.458													27	84					0	0	0	0	T	231067413	C	T	231067413	2	4	137	1	0	0	0	0	0	0	0	1	15049	912	32	2		2	SP110	2	231067413	Silent	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	6318033	231067413	12131960	11	25906											
FGD5	152273	broad.mit.edu	37	chr3	14862067	14862067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctatgtcccagaaaccGtccctgaagaaaccggacct	11	6	9	15	3	0	3	0	1	0	2	2	4	2	4	6	2	2	1	6	2	4	1			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr3:14862067G>A	ENST00000285046.5	+	1	1599	c.1489G>A	c.(1489-1491)Gtc>Atc	p.V497I	FGD5_ENST00000543601.1_Missense_Mutation_p.V256I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	497					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCCAGAAACCGTCCCTGAAGA	0.642													5	36					0	0	0	0	A	14862067	G	A	14862067	3	1	137	1	0	0	0	0	1	0	0	0	5881	1145	40	1	1491	1	FGD5	3	14862067	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08		14862067	183160363	12	25907											
SENP7	57337	broad.mit.edu	37	chr3	101066766	101066766	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtctgaatctcttgaagaTaatctgaagagacccagaag	14	9	11	7	0	3	6	0	3	3	3	4	7	3	6	1	1	0	0	1	1	5	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr3:101066766T>C	ENST00000394095.2	-	13	1840	c.1787A>G	c.(1786-1788)tAt>tGt	p.Y596C	SENP7_ENST00000314261.7_Missense_Mutation_p.Y530C|SENP7_ENST00000394094.2_Missense_Mutation_p.Y531C|SENP7_ENST00000394091.1_Missense_Mutation_p.Y432C|SENP7_ENST00000358203.3_Missense_Mutation_p.Y432C|SENP7_ENST00000348610.3_Missense_Mutation_p.Y563C	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	596					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTCTTGAAGATAATCTGAAGA	0.338													19	71					0	0	0	0	C	101066766	T	C	101066766	3	2	137	1	0	0	0	0	1	0	0	0	14138	1406	49	5	1413	5	SENP7	3	101066766	Missense_Mutation	SNP	T	TCGA-CQ-5330-01A-01D-1683-08	86204699	101066766	96955664	13	25908											
EPHB1	2047	broad.mit.edu	37	chr3	134880873	134880873	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttaggaacacaatgagtTcaactcctccatggccagga	12	10	8	11	0	1	1	1	1	0	0	3	3	3	3	3	3	2	1	3	3	4	3			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr3:134880873T>G	ENST00000398015.3	+	7	1806	c.1436T>G	c.(1435-1437)tTc>tGc	p.F479C	EPHB1_ENST00000493838.1_Missense_Mutation_p.F40C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	479	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CACAATGAGTTCAACTCCTCC	0.547													3	73					0	0	0	0	G	134880873	T	G	134880873	3	3	137	1	0	0	0	0	1	0	0	0	5212	1783	62	5	1462	5	EPHB1	3	134880873	Missense_Mutation	SNP	T	TCGA-CQ-5330-01A-01D-1683-08	33814107	134880873	63141557	14	25909											
ZIC4	84107	broad.mit.edu	37	chr3	147113851	147113851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccgccgacgtgctccacgGtgacgtgcgtgaccagctcg	5	6	15	15	7	0	2	0	2	0	0	2	3	1	2	4	2	3	2	4	2	0	0			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr3:147113851G>A	ENST00000383075.3	-	3	988	c.476C>T	c.(475-477)aCc>aTc	p.T159I	ZIC4_ENST00000484399.1_Missense_Mutation_p.T159I|ZIC4_ENST00000525172.2_Missense_Mutation_p.T209I|ZIC4_ENST00000425731.3_Missense_Mutation_p.T197I|ZIC4_ENST00000473123.1_Missense_Mutation_p.T159I|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	159						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTGCTCCACGGTGACGTGCGT	0.612													4	128					0	0	0	0	A	147113851	G	A	147113851	3	1	137	1	0	0	0	0	1	0	0	0	17776	1261	44	4	540	4	ZIC4	3	147113851	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	12232978	147113851	50908579	15	25910											
NCBP2	22916	broad.mit.edu	37	chr3	196669371	196669371	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccttcaggaggccacccgAcatagtgcagagaagcggac	11	4	13	13	3	1	1	1	0	0	1	1	5	1	3	3	3	2	1	3	3	2	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr3:196669371A>T	ENST00000321256.5	-	1	97	c.4T>A	c.(4-6)Tcg>Acg	p.S2T	NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000427641.2_Missense_Mutation_p.S2T	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	2					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		AGGCCACCCGACATAGTGCAG	0.682											OREG0016012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					0	0	0	0	T	196669371	A	T	196669371	3	4	137	1	0	0	0	0	1	0	0	0	10282	275	10	5	482	5	NCBP2	3	196669371	Missense_Mutation	SNP	A	TCGA-CQ-5330-01A-01D-1683-08	49555520	196669371	1353059	16	25911											
NCAPG	64151	broad.mit.edu	37	chr4	17827167	17827167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagcaacttgaaattaaaGaagtccacatagagaaggta	19	7	9	6	0	0	4	0	1	0	3	1	5	1	4	1	1	2	2	1	1	8	4			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr4:17827167G>A	ENST00000251496.2	+	11	1812	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	546					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TGAAATTAAAGAAGTCCACAT	0.308													6	48					0	0	0	0	A	17827167	G	A	17827167	3	1	137	1	0	0	0	0	1	0	0	0	10277	943	33	2	1678	2	NCAPG	4	17827167	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08		17827167	173327109	17	25912											
RBM47	54502	broad.mit.edu	37	chr4	40440251	40440251	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgatctggtggccccacagCtggatgcggccaggcatgag	7	6	16	12	2	1	1	0	1	1	0	1	3	1	2	3	5	2	2	3	5	0	0			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr4:40440251C>T	ENST00000319592.4	-	4	1369	c.660G>A	c.(658-660)caG>caA	p.Q220Q	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.Q220Q|RBM47_ENST00000514014.1_Silent_p.Q182Q|RBM47_ENST00000381795.6_Silent_p.Q220Q|RBM47_ENST00000381793.2_Silent_p.Q220Q			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	220	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGCCCCACAGCTGGATGCGGC	0.647													26	44					0	0	0	0	T	40440251	C	T	40440251	2	4	137	1	0	0	0	0	0	0	0	1	13223	796	28	4		4	RBM47	4	40440251	Silent	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	22613084	40440251	150714025	18	25913											
TLL1	7092	broad.mit.edu	37	chr4	167020437	167020437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgggcagagtgtggcGgacgattgaaagcagaatca	11	9	14	7	2	1	3	1	1	0	2	2	5	2	4	1	3	1	2	1	3	2	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr4:167020437G>A	ENST00000061240.2	+	20	3312	c.2665G>A	c.(2665-2667)Gga>Aga	p.G889R	TLL1_ENST00000507499.1_Missense_Mutation_p.G912R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	889	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGAGTGTGGCGGACGATTGAA	0.418													12	48					0	0	0	0	A	167020437	G	A	167020437	3	1	137	1	0	0	0	0	1	0	0	0	16039	1117	39	1	2743	1	TLL1	4	167020437	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	126580186	167020437	24133839	19	25914											
DNAH5	1767	broad.mit.edu	37	chr5	13701428	13701428	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaaatccctgggggttaaAaaaacccgtcatccaaaagc	17	7	7	10	1	1	0	1	0	0	0	3	0	3	0	3	2	2	1	3	2	9	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:13701428A>T	ENST00000265104.4	-	77	13560	c.13456T>A	c.(13456-13458)Ttt>Att	p.F4486I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4486					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGGGGTTAAAAAAACCCGTC	0.423									Kartagener syndrome				63	84					0	0	0	0	T	13701428	A	T	13701428	3	4	137	1	0	0	0	0	1	0	0	0	4641	14	1	5	430	5	DNAH5	5	13701428	Missense_Mutation	SNP	A	TCGA-CQ-5330-01A-01D-1683-08		13701428	167213832	20	25915											
LIFR	3977	broad.mit.edu	37	chr5	38506632	38506632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagtgtagcttgtagcaCgtgggcccaccaacgctgtc	9	9	11	12	2	0	0	0	0	0	0	1	0	0	0	2	1	3	5	2	1	5	4			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:38506632C>T	ENST00000263409.4	-	8	1256	c.1094G>A	c.(1093-1095)cGt>cAt	p.R365H	LIFR_ENST00000453190.2_Missense_Mutation_p.R365H|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	365	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCTTGTAGCACGTGGGCCCAC	0.423			T	PLAG1	salivary adenoma								31	51					0	0	0	0	T	38506632	C	T	38506632	3	4	137	1	0	0	0	0	1	0	0	0	8834	536	19	1	2251	1	LIFR	5	38506632	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	24805204	38506632	142408628	21	25916											
MAP1B	4131	broad.mit.edu	37	chr5	71492289	71492289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaggaggaatatgagcCggaaaaaatggaagctgaag	18	4	15	4	1	0	3	0	2	0	1	0	8	0	7	1	4	2	1	1	4	7	1	rs145156470	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:71492289C>T	ENST00000296755.7	+	5	3405	c.3107C>T	c.(3106-3108)cCg>cTg	p.P1036L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1036						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAATATGAGCCGGAAAAAATG	0.522													21	49					0	0	0	0	T	71492289	C	T	71492289	3	4	137	1	0	0	0	0	1	0	0	0	9297	652	23	1	3125	1	MAP1B	5	71492289	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	32985657	71492289	109422971	22	25917											
CHD1	1105	broad.mit.edu	37	chr5	98233025	98233025	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcctttgttttaatacCtttagtagaaataaacatta	13	17	5	6	0	0	1	0	0	0	1	0	1	0	1	2	1	2	2	2	1	8	10			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:98233025C>T	ENST00000284049.3	-	10	1515		c.e10-1			NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GTTTTAATACCTTTAGTAGAA	0.308													17	54					0	0	0	0	T	98233025	C	T	98233025	5	4	137	1	0	0	0	0	0	0	1	0	3352	695	24	4	3871	4	CHD1	5	98233025	Splice_Site	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	26740736	98233025	82682235	23	25918											
PCDHA13	56136	broad.mit.edu	37	chr5	140264049	140264049	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccaccgagggcgcgtgCgcgccgggcaagcccactct	5	3	14	19	7	1	0	0	0	1	0	1	1	1	0	5	2	2	1	5	2	1	0			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:140264049C>T	ENST00000289272.2	+	1	2196	c.2196C>T	c.(2194-2196)tgC>tgT	p.C732C	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.C732C|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGCGCGTGCGCGCCGGGCA	0.672													28	64					0	0	0	0	T	140264049	C	T	140264049	2	4	137	1	0	0	0	0	0	0	0	1	11594	776	27	1		1	PCDHA13	5	140264049	Silent	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	42031024	140264049	40651211	24	25919											
DUSP22	56940	broad.mit.edu	37	chr6	348266	348266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagtttgagaagcatgagGtccatcaggtaagcagttct	12	10	13	6	0	2	2	1	2	1	1	3	4	3	3	1	3	2	5	1	3	2	3	rs147464089	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr6:348266G>T	ENST00000604971.1	+	3	1231	c.118G>T	c.(118-120)Gtc>Ttc	p.V40F	DUSP22_ENST00000605035.1_Missense_Mutation_p.V40F|DUSP22_ENST00000419235.2_Missense_Mutation_p.V143F|DUSP22_ENST00000605863.1_Missense_Mutation_p.V40F|DUSP22_ENST00000603453.1_Missense_Mutation_p.V40F|DUSP22_ENST00000605315.1_Missense_Mutation_p.V40F|DUSP22_ENST00000344450.5_Missense_Mutation_p.V143F			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	143					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GAAGCATGAGGTCCATCAGGT	0.582													4	46					2.56e-06	2.84764e-06	1	0	T	348266	G	T	348266	3	4	137	1	0	0	0	0	1	0	0	0	4857	1261	44	4	449	4	DUSP22	6	348266	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08		348266	170766801	25	25920											
SLC26A8	116369	broad.mit.edu	37	chr6	35919019	35919019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagcctatgaccttcCttgacaaggcaaacagcacg	13	6	10	12	1	0	3	0	2	0	1	1	4	1	4	3	2	3	2	3	2	3	3			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr6:35919019C>A	ENST00000490799.1	-	19	2746	c.2393G>T	c.(2392-2394)aGg>aTg	p.R798M	SLC26A8_ENST00000355574.2_Missense_Mutation_p.R798M|SLC26A8_ENST00000394602.2_Missense_Mutation_p.R693M	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	798	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TATGACCTTCCTTGACAAGGC	0.493													15	43					4.14922e-12	4.72152e-12	1	0	A	35919019	C	A	35919019	3	1	137	1	0	0	0	0	1	0	0	0	14611	681	24	4	527	4	SLC26A8	6	35919019	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	35570753	35919019	135196048	26	25921											
RSPO3	84870	broad.mit.edu	37	chr6	127476478	127476478	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggactgaaacacgggtcCgagaaataatacagcatcct	15	6	11	9	2	0	2	0	1	0	1	2	5	2	3	2	2	3	1	2	2	4	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr6:127476478C>T	ENST00000356698.4	+	4	1118	c.529C>T	c.(529-531)Cga>Tga	p.R177*	RSPO3_ENST00000368317.3_Nonsense_Mutation_p.R177*	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	177	TSP type-1.					extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AACACGGGTCCGAGAAATAAT	0.463													28	58					0	0	0	0	T	127476478	C	T	127476478	4	4	137	1	0	0	0	0	0	1	0	0	13796	644	23	1	543	1	RSPO3	6	127476478	Nonsense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	91557459	127476478	43638589	27	25922											
ACTB	60	broad.mit.edu	37	chr7	5567491	5567491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggagccgccgatccacAcggagtacttgcgctcagga	9	6	14	12	4	1	0	1	0	0	0	2	5	2	4	3	4	3	2	3	4	1	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr7:5567491A>G	ENST00000331789.5	-	6	1207	c.1016T>C	c.(1015-1017)gTg>gCg	p.V339A	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	339					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GCCGATCCACACGGAGTACTT	0.622													9	36					0	0	0	0	G	5567491	A	G	5567491	3	3	137	1	0	0	0	0	1	0	0	0	193	159	6	5	115	5	ACTB	7	5567491	Missense_Mutation	SNP	A	TCGA-CQ-5330-01A-01D-1683-08		5567491	153571172	28	25923											
SAMD9L	219285	broad.mit.edu	37	chr7	92762359	92762359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatctcccatattctgcaaCttctgtttttattagaagtg	9	18	6	8	0	3	1	0	0	3	1	4	1	3	1	1	0	2	3	1	0	6	8			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr7:92762359C>T	ENST00000318238.4	-	5	4142	c.2926G>A	c.(2926-2928)Gtt>Att	p.V976I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.V976I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.V976I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	976										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTCTGCAACTTCTGTTTTT	0.383													18	47					0	0	0	0	T	92762359	C	T	92762359	3	4	137	1	0	0	0	0	1	0	0	0	13912	565	20	4	1832	4	SAMD9L	7	92762359	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	87194868	92762359	66376304	29	25924											
TUSC3	7991	broad.mit.edu	37	chr8	15601052	15601052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacaactactgcagatgccGctatcaccatggggatggtt	10	10	11	10	1	1	2	1	1	0	1	1	3	1	3	2	3	4	3	2	3	3	3			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:15601052G>A	ENST00000382020.4	+	8	1076	c.868G>A	c.(868-870)Gct>Act	p.A290T	TUSC3_ENST00000506802.1_Missense_Mutation_p.A290T|TUSC3_ENST00000503731.1_Missense_Mutation_p.A290T	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	290					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.A290T(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TGCAGATGCCGCTATCACCAT	0.393													45	46					0	0	0	0	A	15601052	G	A	15601052	3	1	137	1	0	0	0	0	1	0	0	0	16874	1087	38	1	898	1	TUSC3	8	15601052	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08		15601052	130762970	30	25925											
RP1	6101	broad.mit.edu	37	chr8	55539978	55539978	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagaggaagctgatgactTgaaagctgctgttgccaatt	12	10	11	8	0	0	4	0	3	0	1	0	5	0	5	1	1	4	4	1	1	3	3			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:55539978T>C	ENST00000220676.1	+	4	3684	c.3536T>C	c.(3535-3537)tTg>tCg	p.L1179S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1179					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCTGATGACTTGAAAGCTGCT	0.408													3	176					0	0	0	0	C	55539978	T	C	55539978	3	2	137	1	0	0	0	0	1	0	0	0	13617	1821	63	5	3546	5	RP1	8	55539978	Missense_Mutation	SNP	T	TCGA-CQ-5330-01A-01D-1683-08	39938926	55539978	90824044	31	25926											
ZFHX4	79776	broad.mit.edu	37	chr8	77775641	77775641	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctttcagtgttgggcAaagttgtaggtgaaacacat	10	13	11	7	0	2	1	1	1	1	0	2	1	2	1	0	2	2	5	0	2	3	4			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:77775641A>G	ENST00000521891.2	+	11	10139	c.9691A>G	c.(9691-9693)Aaa>Gaa	p.K3231E	ZFHX4_ENST00000050961.6_Missense_Mutation_p.K3182E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K3205E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K3186E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTGTTGGGCAAAGTTGTAGG	0.438										HNSCC(33;0.089)			13	144					0	0	0	0	G	77775641	A	G	77775641	3	3	137	1	0	0	0	0	1	0	0	0	17730	131	5	5	9729	5	ZFHX4	8	77775641	Missense_Mutation	SNP	A	TCGA-CQ-5330-01A-01D-1683-08	22235663	77775641	68588381	32	25927											
RALYL	138046	broad.mit.edu	37	chr8	85799858	85799858	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcagaagaagcaattGgaagagagtctagtgctgat	15	8	13	5	0	2	4	1	1	1	3	2	7	2	5	0	1	3	3	0	1	6	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:85799858G>A	ENST00000521268.1	+	8	1810	c.705G>A	c.(703-705)ttG>ttA	p.L235L	RALYL_ENST00000517638.1_Silent_p.L248L|RALYL_ENST00000522455.1_Silent_p.L235L|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000518566.1_Silent_p.L224L|RALYL_ENST00000521695.1_Silent_p.L235L|RALYL_ENST00000523850.1_Silent_p.L162L	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	235							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AGAAGCAATTGGAAGAGAGTC	0.488													10	108					0	0	0	0	A	85799858	G	A	85799858	2	1	137	1	0	0	0	0	0	0	0	1	13102	1339	47	4		4	RALYL	8	85799858	Silent	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	8024217	85799858	60564164	33	25928											
CYP11B1	1584	broad.mit.edu	37	chr8	143957228	143957228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggccaggctctcctggcGcagggcctgctgcacgttgg	3	7	17	14	3	1	0	0	0	1	0	2	0	1	0	3	6	2	5	3	6	0	1			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:143957228G>A	ENST00000292427.4	-	6	1053	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	341					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTCTCCTGGCGCAGGGCCTGC	0.642									Familial Hyperaldosteronism type I				93	81					0	0	0	0	A	143957228	G	A	143957228	3	1	137	1	0	0	0	0	1	0	0	0	4177	1087	38	1	506	1	CYP11B1	8	143957228	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	58157370	143957228	2406794	34	25929											
NAPRT1	93100	broad.mit.edu	37	chr8	144657851	144657851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacactggtgccaatgcCaatgacattcacctcactgc	11	8	7	15	0	2	1	2	1	0	0	2	2	2	1	4	1	3	0	4	1	2	1			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:144657851C>T	ENST00000449291.2	-	9	1423	c.1129G>A	c.(1129-1131)Ggc>Agc	p.G377S	NAPRT1_ENST00000435154.3_Missense_Mutation_p.G377S|NAPRT1_ENST00000276844.7_Missense_Mutation_p.G377S|NAPRT1_ENST00000426292.3_Missense_Mutation_p.G377S|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'UTR			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	377					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTGCCAATGCCAATGACATTC	0.667													5	7					0	0	0	0	T	144657851	C	T	144657851	3	4	137	1	0	0	0	0	1	0	0	0	10235	594	21	4	507	4	NAPRT1	8	144657851	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	700623	144657851	1706171	35	25930											
CDKN2A	1029	broad.mit.edu	37	chr9	21971045	21971059	+	In_Frame_Del	DEL	CCAGCCGCGCCCCGG	CCAGCCGCGCCCCGG	-																															gccccaggcatcgcgcacgtCcagccgcgccccggcccggt																								rs137854598		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr9:21971045_21971059delCCAGCCGCGCCCCGG	ENST00000579755.1	-	2	634_648	c.342_356delCCGGGGCGCGGCTGG	c.(340-357)gga>gg	p.GRGAAG114del	CDKN2A_ENST00000578845.2_In_Frame_Del_p.AGARLD49del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_In_Frame_Del_p.GRGAAG114del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.AGARLD100del|CDKN2A_ENST00000494262.1_In_Frame_Del_p.AGARLD49del|CDKN2A_ENST00000304494.5_In_Frame_Del_p.AGARLD100del|CDKN2A_ENST00000479692.2_In_Frame_Del_p.AGARLD49del|CDKN2A_ENST00000498628.2_In_Frame_Del_p.AGARLD49del|CDKN2A_ENST00000361570.3_In_Frame_Del_p.GRGAAG155del|CDKN2A_ENST00000446177.1_In_Frame_Del_p.AGARLD100del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.AGARLD100del|CDKN2A_ENST00000497750.1_In_Frame_Del_p.AGARLD49del			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	130			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.G101G(3)|p.A102V(3)|p.L104fs*42(2)|p.D105fs*41(2)|p.A102A(2)|p.A102E(2)|p.H83fs*2(2)|p.R103Q(1)|p.R103R(1)|p.T93_D105del(1)|p.A100V(1)|p.G101fs*17(1)|p.A68fs*3(1)|p.0(1)|p.A102fs*18(1)|p.R103fs*43(1)|p.G101W(1)|p.D105N(1)|p.A102P(1)|p.A102T(1)|p.A102fs*42(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGCGCACGTCCAGCCGCGCCCCGGCCCGGTGCAG	0.758		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			21	30	---	---	---	---					-	21971059	CCAGCCGCGCCCCGG	-	21971045	7	5	137	1	0	1	0	1	0	0	0	0	3190	855	30	0	165	0	CDKN2A	9	21971045	In_Frame_Del	DEL	CCAGCCGCGCCCCGG	TCGA-CQ-5330-01A-01D-1683-08		21971045	119242386	36	25931											
AGTPBP1	23287	broad.mit.edu	37	chr9	88203249	88203249	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggatttaacatagggAcaattttaaaaatataagat	18	13	6	4	0	1	1	0	0	1	1	1	3	1	3	0	2	1	0	0	2	8	7			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr9:88203249A>C	ENST00000357081.3	-	21	3011	c.2867T>G	c.(2866-2868)gTc>gGc	p.V956G	AGTPBP1_ENST00000376109.3_Missense_Mutation_p.V968G|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.V916G|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	956					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TAACATAGGGACAATTTTAAA	0.348													13	30					0	0	0	0	C	88203249	A	C	88203249	3	2	137	1	0	0	0	0	1	0	0	0	400	275	10	5	837	5	AGTPBP1	9	88203249	Missense_Mutation	SNP	A	TCGA-CQ-5330-01A-01D-1683-08	66232204	88203249	53010182	37	25932											
OMD	4958	broad.mit.edu	37	chr9	95177520	95177520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgagcattgtcaggatcatCgtgatcttcactttcatcat	10	15	7	9	1	6	2	5	2	1	0	7	3	6	3	0	1	1	1	0	1	0	3			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr9:95177520C>T	ENST00000375550.4	-	3	1455	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	394	Asp/Glu-rich (acidic).				cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TCAGGATCATCGTGATCTTCA	0.368			T	USP6	aneurysmal bone cysts								26	38					0	0	0	0	T	95177520	C	T	95177520	3	4	137	1	0	0	0	0	1	0	0	0	10936	884	31	1	89	1	OMD	9	95177520	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	6974271	95177520	46035911	38	25933											
BSPRY	54836	broad.mit.edu	37	chr9	116132021	116132021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatggcccggagcgcttcGaccactggcccaatgccctg	7	6	12	16	3	0	1	0	0	0	1	1	3	0	2	4	3	2	1	4	3	1	1			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr9:116132021G>A	ENST00000374183.4	+	6	847	c.808G>A	c.(808-810)Gac>Aac	p.D270N	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	270	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GGAGCGCTTCGACCACTGGCC	0.577													15	51					0	0	0	0	A	116132021	G	A	116132021	3	1	137	1	0	0	0	0	1	0	0	0	1540	1058	37	1	830	1	BSPRY	9	116132021	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	20954501	116132021	25081410	39	25934											
SEC16A	9919	broad.mit.edu	37	chr9	139371059	139371059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggctatctccccgggcgaGggggttcacaagagcagagg	8	6	17	10	2	2	2	1	0	1	2	3	3	2	2	2	5	1	3	2	5	2	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr9:139371059G>A	ENST00000313050.7	-	1	1082	c.1009C>T	c.(1009-1011)Ctc>Ttc	p.L337F	SEC16A_ENST00000431893.2_Missense_Mutation_p.L159F|SEC16A_ENST00000371706.3_Missense_Mutation_p.L159F|SEC16A_ENST00000290037.6_Missense_Mutation_p.L159F	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	159					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCCGGGCGAGGGGGTTCACA	0.617													7	39					0	0	0	0	A	139371059	G	A	139371059	3	1	137	1	0	0	0	0	1	0	0	0	14073	1000	35	4	6184	4	SEC16A	9	139371059	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	23239038	139371059	1842372	40	25935											
TMEM72	643236	broad.mit.edu	37	chr10	45430313	45430313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccttttcatccacatgAagagtatcctgaaggggact	10	11	9	11	0	1	3	1	2	0	1	4	4	4	4	3	2	0	2	3	2	3	3			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr10:45430313A>G	ENST00000544540.1	+	4	689	c.205A>G	c.(205-207)Aag>Gag	p.K69E	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	187						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						CATCCACATGAAGAGTATCCT	0.602													46	156					0	0	0	0	G	45430313	A	G	45430313	3	3	137	1	0	0	0	0	1	0	0	0	16295	247	9	5	577	5	TMEM72	10	45430313	Missense_Mutation	SNP	A	TCGA-CQ-5330-01A-01D-1683-08		45430313	90104434	41	25936											
PSAP	5660	broad.mit.edu	37	chr10	73578462	73578462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaacaagggcttatgggccGaggggcaggctccaattttc	9	8	13	11	1	0	0	0	0	0	0	2	1	1	0	3	5	1	3	3	5	4	3			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr10:73578462G>A	ENST00000394936.3	-	13	1598	c.1451C>T	c.(1450-1452)tCg>tTg	p.S484L	PSAP_ENST00000394934.1_Missense_Mutation_p.S486L			P07602	SAP_HUMAN	prosaposin	484	Saposin B-type 4.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CTTATGGGCCGAGGGGCAGGC	0.488													8	125					0	0	0	0	A	73578462	G	A	73578462	3	1	137	1	0	0	0	0	1	0	0	0	12722	1059	37	1	131	1	PSAP	10	73578462	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	28148149	73578462	61956285	42	25937											
ARL3	403	broad.mit.edu	37	chr10	104445679	104445679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagaggcaggggctgctGtgagcaaatcctgcttatta	9	12	12	8	0	1	2	1	1	0	1	2	2	2	2	1	3	3	5	1	3	3	3	rs150077149		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr10:104445679G>A	ENST00000260746.5	-	5	526	c.395C>T	c.(394-396)aCa>aTa	p.T132I		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	132					cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		AGGGGCTGCTGTGAGCAAATC	0.507													15	43					0	0	0	0	A	104445679	G	A	104445679	3	1	137	1	0	0	0	0	1	0	0	0	939	1377	48	4	161	4	ARL3	10	104445679	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	30867217	104445679	31089068	43	25938											
TH	7054	broad.mit.edu	37	chr11	2191095	2191095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgcgcccaatgaaccGcggggactgtggggacaagg	8	5	16	12	3	0	1	0	1	0	0	0	3	0	3	3	5	3	0	3	5	3	0			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr11:2191095G>A	ENST00000381178.1	-	3	208	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	TH_ENST00000381175.1_Missense_Mutation_p.R60W|TH_ENST00000352909.3_Missense_Mutation_p.R33W|TH_ENST00000333684.5_Missense_Mutation_p.R37W	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	64					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCAATGAACCGCGGGGACTGT	0.721													3	10					0	0	0	0	A	2191095	G	A	2191095	3	1	137	1	0	0	0	0	1	0	0	0	15932	1086	38	1	1444	1	TH	11	2191095	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08		2191095	132815421	44	25939											
AHNAK	79026	broad.mit.edu	37	chr11	62290908	62290908	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgttcatctcaggcaTcttgaacttggggcccttca	7	15	9	10	0	4	2	3	2	2	0	5	2	4	2	1	3	1	2	1	3	1	5			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr11:62290908T>C	ENST00000378024.4	-	5	11255	c.10981A>G	c.(10981-10983)Atg>Gtg	p.M3661V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3661					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTCAGGCATCTTGAACTTG	0.468													55	177					0	0	0	0	C	62290908	T	C	62290908	3	2	137	1	0	0	0	0	1	0	0	0	414	1435	50	5	6811	5	AHNAK	11	62290908	Missense_Mutation	SNP	T	TCGA-CQ-5330-01A-01D-1683-08	60099813	62290908	72715608	45	25940											
PYGM	5837	broad.mit.edu	37	chr11	64521023	64521023	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatctcggagtggatgcgCgccacgccgttgacggcgtg	6	7	17	11	7	1	1	0	1	1	0	2	4	1	4	2	4	1	1	2	4	0	1			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr11:64521023C>T	ENST00000164139.3	-	11	1769	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A	PYGM_ENST00000377432.3_Silent_p.A369A	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	457					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGTGGATGCGCGCCACGCCGT	0.652													3	5					0	0	0	0	T	64521023	C	T	64521023	2	4	137	1	0	0	0	0	0	0	0	1	12944	755	27	1		1	PYGM	11	64521023	Silent	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	2230115	64521023	70485493	46	25941											
FEZ1	9638	broad.mit.edu	37	chr11	125359382	125359382	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctcgtcctgaagggtctCctcctcctcttggatctgta	4	14	8	15	1	3	1	0	1	3	0	9	2	7	2	5	2	0	1	5	2	2	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr11:125359382C>A	ENST00000278919.3	-	2	526	c.292G>T	c.(292-294)Gag>Tag	p.E98*	FEZ1_ENST00000524435.1_Nonsense_Mutation_p.E98*|FEZ1_ENST00000366139.3_Nonsense_Mutation_p.E98*	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	98	Poly-Glu.				axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TGAAGGGTCTCCTCCTCCTCT	0.493													7	61					0.00198382	0.00215822	1	0	A	125359382	C	A	125359382	4	1	137	1	0	0	0	0	0	1	0	0	5868	864	30	2	926	2	FEZ1	11	125359382	Nonsense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	60838359	125359382	9647134	47	25942											
HSP90B1	7184	broad.mit.edu	37	chr12	104340443	104340443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaattaatcccagacaccCgctgatcagagacatgcttc	13	9	7	12	1	1	4	1	2	0	2	3	5	2	4	2	0	1	2	2	0	2	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr12:104340443C>T	ENST00000299767.5	+	15	2257	c.2075C>T	c.(2074-2076)cCg>cTg	p.P692L		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	692					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CCCAGACACCCGCTGATCAGA	0.323													14	60					0	0	0	0	T	104340443	C	T	104340443	3	4	137	1	0	0	0	0	1	0	0	0	7455	652	23	1	2133	1	HSP90B1	12	104340443	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08		104340443	29511452	48	25943											
KSR2	283455	broad.mit.edu	37	chr12	118199176	118199176	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtggggctggtgtgacaaTagtgctggacgcacttggac	8	9	17	7	1	0	1	0	1	0	0	0	4	0	3	0	5	1	3	0	5	2	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr12:118199176T>C	ENST00000425217.1	-	4	593	c.539A>G	c.(538-540)tAt>tGt	p.Y180C	KSR2_ENST00000339824.5_Missense_Mutation_p.Y209C	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	209					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGTGACAATAGTGCTGGAC	0.687													7	19					0	0	0	0	C	118199176	T	C	118199176	3	2	137	1	0	0	0	0	1	0	0	0	8635	1406	49	5	2294	5	KSR2	12	118199176	Missense_Mutation	SNP	T	TCGA-CQ-5330-01A-01D-1683-08	13858733	118199176	15652719	49	25944											
GCN1L1	10985	broad.mit.edu	37	chr12	120621395	120621395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttccagatgtctccttGtcgcttggctctcgatggaa	5	16	10	10	2	2	1	0	0	2	1	6	3	3	2	2	2	0	3	2	2	1	4			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr12:120621395G>T	ENST00000300648.6	-	5	415	c.403C>A	c.(403-405)Caa>Aaa	p.Q135K		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	135					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTCTCCTTGTCGCTTGGCT	0.542													3	73					0.00909568	0.0096825	1	0	T	120621395	G	T	120621395	3	4	137	1	0	0	0	0	1	0	0	0	6348	1386	48	4	7828	4	GCN1L1	12	120621395	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	2422219	120621395	13230500	50	25945											
FEM1B	10116	broad.mit.edu	37	chr15	68582025	68582025	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaacttctagtcagccAtggagccaacgtgaaccata	13	10	8	10	1	2	1	1	1	1	0	2	2	2	2	3	1	5	1	3	1	6	4			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr15:68582025A>G	ENST00000306917.4	+	2	944	c.329A>G	c.(328-330)cAt>cGt	p.H110R		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	110					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTAGTCAGCCATGGAGCCAAC	0.448													10	24					0	0	0	0	G	68582025	A	G	68582025	3	3	137	1	0	0	0	0	1	0	0	0	5855	217	8	5	335	5	FEM1B	15	68582025	Missense_Mutation	SNP	A	TCGA-CQ-5330-01A-01D-1683-08		68582025	33949367	51	25946											
DNAH3	55567	broad.mit.edu	37	chr16	20999384	20999384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattcagatggcgagtgaatCgtcctggggaatacaacaca	13	9	11	8	2	1	2	1	1	0	1	3	4	2	3	1	3	2	0	1	3	5	3			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr16:20999384C>T	ENST00000261383.3	-	45	6604	c.6605G>A	c.(6604-6606)cGa>cAa	p.R2202Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2202	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCGAGTGAATCGTCCTGGGGA	0.453													14	46					0	0	0	0	T	20999384	C	T	20999384	3	4	137	1	0	0	0	0	1	0	0	0	4640	884	31	1	5816	1	DNAH3	16	20999384	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08		20999384	69355369	52	25947											
PHKB	5257	broad.mit.edu	37	chr16	47644777	47644777	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacattgatcctgtccaGcgctatgtcccactaaagga	13	9	8	11	1	0	2	0	1	0	1	3	3	3	3	3	1	1	1	3	1	4	3			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr16:47644777G>A	ENST00000455779.1	+	15	1568	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	PHKB_ENST00000566044.1_Silent_p.Q461Q|PHKB_ENST00000299167.8_Silent_p.Q468Q|PHKB_ENST00000323584.5_Silent_p.Q468Q			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	468					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATCCTGTCCAGCGCTATGTCC	0.368													13	34					0	0	0	0	A	47644777	G	A	47644777	2	1	137	1	0	0	0	0	0	0	0	1	11917	962	34	4		4	PHKB	16	47644777	Silent	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	26645393	47644777	42709976	53	25948											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53686477	53686477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtacaaaatattcggcCgcttttttcaagaatttcgt	10	16	7	8	3	1	1	1	0	0	1	3	1	1	1	1	1	2	3	1	1	6	7			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr16:53686477C>A	ENST00000262135.4	-	15	2215	c.2122G>T	c.(2122-2124)Ggc>Tgc	p.G708C	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.G708C|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.G708C|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.G708C	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	708	C2 1.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AATATTCGGCCGCTTTTTTCA	0.348													14	38					0.00316338	0.00340407	1	0	A	53686477	C	A	53686477	3	1	137	1	0	0	0	0	1	0	0	0	13635	652	23	3	1877	3	RPGRIP1L	16	53686477	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	6041700	53686477	36668276	54	25949											
PKD1L2	114780	broad.mit.edu	37	chr16	81161713	81161713	+	RNA	DEL	A	A	-																															gtaaatctagcaatcaaaatAatcttaacacattccaagct																								rs113658800		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr16:81161713delA	ENST00000525539.1	-	0	6043				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAATCAAAATAATCTTAACAC	0.438													4	2	---	---	---	---					-	81161713	A	-	81161713	6	5	137	0	1	1	0	1	0	0	0	0	12037	377	13	0		0	PKD1L2	16	81161713	RNA	DEL	A	TCGA-CQ-5330-01A-01D-1683-08	27475236	81161713	9193040	55	25950											
CBFA2T3	863	broad.mit.edu	37	chr16	88958773	88958773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgggccccgcaggctGggggcaggtgctgtgtggac	3	6	20	12	2	0	0	0	0	0	0	0	1	0	1	3	6	2	5	3	6	0	0			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr16:88958773G>T	ENST00000268679.4	-	4	896	c.500C>A	c.(499-501)cCa>cAa	p.P167Q	CBFA2T3_ENST00000448839.1_Missense_Mutation_p.P91Q|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.P81Q|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.P81Q|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P142Q	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	167	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCCGCAGGCTGGGGGCAGGTG	0.647			T	RUNX1	AML								18	23					4.35082e-09	4.89467e-09	1	0	T	88958773	G	T	88958773	3	4	137	1	0	0	0	0	1	0	0	0	2723	1348	47	4	1497	4	CBFA2T3	16	88958773	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	7797060	88958773	1395980	56	25951											
POLR2A	5430	broad.mit.edu	37	chr17	7399844	7399844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtctacgacctttgcaaggGcaaaaacatatgcgagggtg	12	9	12	8	2	1	0	0	0	1	0	1	2	1	0	1	2	4	2	1	2	5	3			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr17:7399844G>A	ENST00000322644.6	+	4	848	c.449G>A	c.(448-450)gGc>gAc	p.G150D	POLR2A_ENST00000572844.1_Missense_Mutation_p.G150D	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	150					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTTTGCAAGGGCAAAAACATA	0.537													4	158					0	0	0	0	A	7399844	G	A	7399844	3	1	137	1	0	0	0	0	1	0	0	0	12286	1203	42	4	463	4	POLR2A	17	7399844	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08		7399844	73795366	57	25952											
TP53	7157	broad.mit.edu	37	chr17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctcaaagctgttccgtcCcagtagattaccactactca	11	10	5	15	1	2	1	2	0	0	1	4	1	4	1	4	0	3	3	4	0	4	4			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr17:7577142C>T	ENST00000420246.2	-	8	928	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000269305.4_Missense_Mutation_p.G266R|TP53_ENST00000445888.2_Missense_Mutation_p.G266R|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000455263.2_Missense_Mutation_p.G266R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGTTCCGTCCCAGTAGATTA	0.517		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	11					0	0	0	0	T	7577142	C	T	7577142	3	4	137	1	0	0	0	0	1	0	0	0	16476	632	22	4	490	4	TP53	17	7577142	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	177298	7577142	73618068	58	25953											
PSMD11	5717	broad.mit.edu	37	chr17	30796051	30796051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagttgaaaaagatggaCgacaaagctcttttggtgga	13	9	14	5	2	1	2	0	1	1	1	1	6	1	5	0	4	1	2	0	4	3	3			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr17:30796051C>T	ENST00000261712.3	+	6	746	c.483C>T	c.(481-483)gaC>gaT	p.D161D	PSMD11_ENST00000457654.2_Silent_p.D161D	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	161					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AAAAGATGGACGACAAAGCTC	0.448													14	33					0	0	0	0	T	30796051	C	T	30796051	2	4	137	1	0	0	0	0	0	0	0	1	12773	535	19	1		1	PSMD11	17	30796051	Silent	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	23218909	30796051	50399159	59	25954											
NAGS	162417	broad.mit.edu	37	chr17	42083499	42083499	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggccgcgcgccgctccgTgcttctcgactccctggagg	3	7	14	17	7	1	0	0	0	1	0	4	3	3	1	4	3	1	2	4	3	0	1			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr17:42083499T>A	ENST00000293404.3	+	3	927	c.809T>A	c.(808-810)gTg>gAg	p.V270E		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	270					arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	CGCCGCTCCGTGCTTCTCGAC	0.667													10	16					0	0	0	0	A	42083499	T	A	42083499	3	1	137	1	0	0	0	0	1	0	0	0	10215	1696	59	5	819	5	NAGS	17	42083499	Missense_Mutation	SNP	T	TCGA-CQ-5330-01A-01D-1683-08	11287448	42083499	39111711	60	25955											
LRRC30	339291	broad.mit.edu	37	chr18	7231400	7231400	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccgggttctccctccCgaggtggggaaactgacccg	6	7	13	15	3	1	1	0	1	1	0	4	3	3	2	4	4	2	2	4	4	1	1			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr18:7231400C>T	ENST00000383467.2	+	1	278	c.264C>T	c.(262-264)ccC>ccT	p.P88P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	88								p.P88P(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTCTCCCTCCCGAGGTGGGGA	0.587													9	24					0	0	0	0	T	7231400	C	T	7231400	2	4	137	1	0	0	0	0	0	0	0	1	9049	639	23	1		1	LRRC30	18	7231400	Silent	SNP	C	TCGA-CQ-5330-01A-01D-1683-08		7231400	70845848	61	25956											
DSG1	1828	broad.mit.edu	37	chr18	28934345	28934345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgaaggtgtaggttcccCtgctggctctgtgggttgtt	4	14	14	9	1	1	0	0	0	1	0	3	1	2	0	2	4	1	6	2	4	2	4			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr18:28934345C>T	ENST00000257192.4	+	15	2398	c.2186C>T	c.(2185-2187)cCt>cTt	p.P729L	DSG1_ENST00000462981.2_Missense_Mutation_p.P88L|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	729					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTAGGTTCCCCTGCTGGCTCT	0.453													32	54					0	0	0	0	T	28934345	C	T	28934345	3	4	137	1	0	0	0	0	1	0	0	0	4812	681	24	4	2244	4	DSG1	18	28934345	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	21702945	28934345	49142903	62	25957											
C18orf54	162681	broad.mit.edu	37	chr18	51892104	51892104	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagcaaatctcctgttccCgttaactctgatgatagtcc	9	15	6	11	1	2	2	0	2	2	0	5	2	4	2	3	0	2	3	3	0	4	5			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr18:51892104C>T	ENST00000300091.5	+	5	1088	c.756C>T	c.(754-756)ccC>ccT	p.P252P	C18orf54_ENST00000578138.1_Silent_p.P31P|C18orf54_ENST00000382911.4_Silent_p.P413P|C18orf54_ENST00000582188.1_3'UTR	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	252						extracellular region		p.P252P(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		CTCCTGTTCCCGTTAACTCTG	0.333													39	120					0	0	0	0	T	51892104	C	T	51892104	2	4	137	1	0	0	0	0	0	0	0	1	1921	639	23	1		1	C18orf54	18	51892104	Silent	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	22957759	51892104	26185144	63	25958											
TSHZ1	10194	broad.mit.edu	37	chr18	72999367	72999367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagagctccctggccaagGctgcgtcccccatagcaaaa	12	5	10	14	1	0	2	0	0	0	2	2	2	2	2	4	2	3	3	4	2	5	1			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr18:72999367G>A	ENST00000322038.5	+	2	2454	c.1870G>A	c.(1870-1872)Gct>Act	p.A624T	TSHZ1_ENST00000580243.1_Missense_Mutation_p.A669T	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	669						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCTGGCCAAGGCTGCGTCCCC	0.572													14	31					0	0	0	0	A	72999367	G	A	72999367	3	1	137	1	0	0	0	0	1	0	0	0	16718	1203	42	4	1872	4	TSHZ1	18	72999367	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	21107263	72999367	5077881	64	25959											
MUC16	94025	broad.mit.edu	37	chr19	9010979	9010979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgaatactcactgctggtgGgggccacagagctccgatgg	8	9	14	10	1	1	2	1	1	0	1	2	3	2	2	2	4	3	2	2	4	2	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:9010979G>T	ENST00000397910.4	-	37	39142	c.38939C>A	c.(38938-38940)cCc>cAc	p.P12980H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12982					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						ACTGCTGGTGGGGGCCACAGA	0.517													25	66					6.12954e-19	7.05609e-19	1	0	T	9010979	G	T	9010979	3	4	137	1	0	0	0	0	1	0	0	0	10043	1232	43	4	4776	4	MUC16	19	9010979	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08		9010979	50118004	65	25960											
ILF3	3609	broad.mit.edu	37	chr19	10791116	10791116	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagatatcacacagagtgcGcaggtatagtcatcgccatt	13	9	10	9	2	2	2	2	0	0	2	3	3	2	2	1	1	1	2	1	1	4	4	rs150021624	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:10791116G>A	ENST00000449870.1	+	9	1271	c.954G>A	c.(952-954)gcG>gcA	p.A318A	ILF3_ENST00000588657.1_Silent_p.A318A|ILF3_ENST00000250241.8_Silent_p.A318A|ILF3_ENST00000590261.1_Silent_p.A318A|ILF3_ENST00000318511.3_Silent_p.A318A|ILF3_ENST00000589998.1_Silent_p.A318A|ILF3_ENST00000407004.3_Silent_p.A318A|ILF3_ENST00000420083.1_Silent_p.A318A|ILF3_ENST00000592763.1_Silent_p.A318A	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	318	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CACAGAGTGCGCAGGTATAGT	0.507													5	33					0	0	0	0	A	10791116	G	A	10791116	2	1	137	1	0	0	0	0	0	0	0	1	7765	1074	38	1		1	ILF3	19	10791116	Silent	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	1780137	10791116	48337867	66	25961											
ZNF208	7757	broad.mit.edu	37	chr19	22157207	22157207	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagggttgaggaccagttaAaagctttgccaccttcttca	11	12	9	9	0	2	1	1	1	1	0	2	2	2	2	3	2	2	3	3	2	3	6			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:22157207A>G	ENST00000397126.4	-	4	777	c.629T>C	c.(628-630)tTt>tCt	p.F210S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGACCAGTTAAAAGCTTTGCC	0.368													18	49					0	0	0	0	G	22157207	A	G	22157207	3	3	137	1	0	0	0	0	1	0	0	0	17861	14	1	5	3217	5	ZNF208	19	22157207	Missense_Mutation	SNP	A	TCGA-CQ-5330-01A-01D-1683-08	11366091	22157207	36971776	67	25962											
GGN	199720	broad.mit.edu	37	chr19	38877088	38877088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagaggccgccgcctcCgccgccccccagcgaagctt	8	3	11	19	5	0	1	0	0	0	1	1	2	1	1	8	1	3	2	8	1	2	1			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:38877088C>T	ENST00000334928.6	-	3	946	c.814G>A	c.(814-816)Gga>Aga	p.G272R	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	272	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGCCGCCTCCGCCGCCCCCC	0.647													8	41					0	0	0	0	T	38877088	C	T	38877088	3	4	137	1	0	0	0	0	1	0	0	0	6409	661	23	1	1152	1	GGN	19	38877088	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	16719881	38877088	20251895	68	25963											
PPP5C	5536	broad.mit.edu	37	chr19	46879819	46879819	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaagaaactgcaccggaaAtgtgcctaccaggtaatgca	15	6	10	10	1	0	2	0	0	0	2	0	3	0	3	3	2	5	3	3	2	5	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:46879819A>G	ENST00000012443.4	+	4	724	c.621A>G	c.(619-621)aaA>aaG	p.K207K	PPP5C_ENST00000391919.1_Silent_p.K101K	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	207	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGCACCGGAAATGTGCCTACC	0.547													10	25					0	0	0	0	G	46879819	A	G	46879819	2	3	137	1	0	0	0	0	0	0	0	1	12482	98	4	5		5	PPP5C	19	46879819	Silent	SNP	A	TCGA-CQ-5330-01A-01D-1683-08	8002731	46879819	12249164	69	25964											
ZNF616	90317	broad.mit.edu	37	chr19	52619805	52619805	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctctgtagtatgtatcctCtgatgattaataaggctgga	10	16	9	6	0	2	2	0	2	2	0	4	3	3	3	1	2	0	4	1	2	5	6			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:52619805C>T	ENST00000600228.1	-	4	873	c.612G>A	c.(610-612)caG>caA	p.Q204Q	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TATGTATCCTCTGATGATTAA	0.393													42	93					0	0	0	0	T	52619805	C	T	52619805	2	4	137	1	0	0	0	0	0	0	0	1	18136	912	32	2		2	ZNF616	19	52619805	Silent	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	5739986	52619805	6509178	70	25965											
ATRN	8455	broad.mit.edu	37	chr20	3543984	3543984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatggcgccaaatgcttctCttcagatttcatggcctatg	8	13	8	12	1	3	1	2	0	1	1	4	1	3	1	3	2	1	1	3	2	2	4			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr20:3543984C>T	ENST00000262919.5	+	10	1828	c.1760C>T	c.(1759-1761)tCt>tTt	p.S587F	ATRN_ENST00000446916.2_Missense_Mutation_p.S587F	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	587					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AAATGCTTCTCTTCAGATTTC	0.428													9	163					0	0	0	0	T	3543984	C	T	3543984	3	4	137	1	0	0	0	0	1	0	0	0	1210	913	32	2	1798	2	ATRN	20	3543984	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08		3543984	59481536	71	25966											
ZNF335	63925	broad.mit.edu	37	chr20	44581029	44581029	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctctgggagtcccctacGcagtgggtcttggctggaga	6	9	16	10	1	2	1	0	0	2	1	3	4	3	2	2	4	2	3	2	4	1	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr20:44581029G>A	ENST00000322927.2	-	20	3046	c.2946C>T	c.(2944-2946)tgC>tgT	p.C982C	ZNF335_ENST00000426788.1_Silent_p.C827C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	982					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGTCCCCTACGCAGTGGGTCT	0.662													20	39					0	0	0	0	A	44581029	G	A	44581029	2	1	137	1	0	0	0	0	0	0	0	1	17947	1079	38	1		1	ZNF335	20	44581029	Silent	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	41037045	44581029	18444491	72	25967											
TSSK2	23617	broad.mit.edu	37	chr22	19119046	19119046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtcaagatcatcgaccGcaagaaaacacctactgact	14	7	8	12	2	2	3	2	1	0	2	3	4	2	3	2	1	2	2	2	1	5	1			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr22:19119046G>A	ENST00000399635.2	+	1	726	c.134G>A	c.(133-135)cGc>cAc	p.R45H	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	45	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					ATCATCGACCGCAAGAAAACA	0.488													3	31					0	0	0	0	A	19119046	G	A	19119046	3	1	137	1	0	0	0	0	1	0	0	0	16764	1087	38	1	136	1	TSSK2	22	19119046	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08		19119046	32185520	73	25968											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38493127	38493127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcttccaattcagccGcccgctgactctcagacacg	7	10	7	17	3	3	2	2	1	2	1	6	2	4	2	3	0	1	2	3	0	1	3			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr22:38493127G>A	ENST00000381669.3	-	7	668	c.524C>T	c.(523-525)gCg>gTg	p.A175V	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.A175V	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	175	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CAATTCAGCCGCCCGCTGACT	0.607													10	33					0	0	0	0	A	38493127	G	A	38493127	3	1	137	1	0	0	0	0	1	0	0	0	1307	1087	38	1	1097	1	BAIAP2L2	22	38493127	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08	19374081	38493127	12811439	74	25969											
SUV39H1	6839	broad.mit.edu	37	chrX	48558589	48558589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctcaagcagttccacaaGgacttagaaagggagctgct	13	8	10	10	0	1	1	1	0	0	1	3	3	3	3	2	2	3	4	2	2	4	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:48558589G>A	ENST00000453214.2	+	3	300	c.85G>A	c.(85-87)Gga>Aga	p.G29R	SUV39H1_ENST00000337852.6_Silent_p.K102K|SUV39H1_ENST00000376687.3_Silent_p.K91K|AF196970.3_ENST00000416061.1_RNA			O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	0	Interaction with SIRT1.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						AGTTCCACAAGGACTTAGAAA	0.567													3	9					0	0	0	0	A	48558589	G	A	48558589	3	1	137	1	0	0	0	0	1	0	0	0	15502	991	35	4	283	4	SUV39H1	23	48558589	Missense_Mutation	SNP	G	TCGA-CQ-5330-01A-01D-1683-08		48558589	106711971	75	25970											
HUWE1	10075	broad.mit.edu	37	chrX	53562382	53562384	+	In_Frame_Del	DEL	CTT	CTT	-																															cataccaggtgtacatactcCttcttattctcctctgttac																										TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:53562382_53562384delCTT	ENST00000342160.3	-	80	13067_13069	c.12610_12612delAAG	c.(12610-12612)del	p.K4204del	HUWE1_ENST00000262854.6_In_Frame_Del_p.K4204del			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4204	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.K4094del(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTACATACTCCTTCTTATTCTCC	0.438													19	61	---	---	---	---					-	53562384	CTT	-	53562382	7	5	137	1	0	1	0	1	0	0	0	0	7514	680	24	0	528	0	HUWE1	23	53562382	In_Frame_Del	DEL	CTT	TCGA-CQ-5330-01A-01D-1683-08	5003793	53562382	101708178	76	25971											
ZNF711	7552	broad.mit.edu	37	chrX	84523345	84523345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatgaagattgtcaagcatCaggtaagagagcattgtata	15	11	11	4	0	2	3	2	1	0	2	2	4	2	3	0	1	2	5	0	1	6	6			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:84523345C>T	ENST00000360700.4	+	8	1986	c.1100C>T	c.(1099-1101)tCa>tTa	p.S367L	ZNF711_ENST00000395402.1_Intron|ZNF711_ENST00000373165.3_Missense_Mutation_p.S321L|ZNF711_ENST00000276123.3_Missense_Mutation_p.S321L|ZNF711_ENST00000542798.1_Missense_Mutation_p.S163L			Q9Y462	ZN711_HUMAN	zinc finger protein 711	321					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGTCAAGCATCAGGTAAGAGA	0.303													14	26					0	0	0	0	T	84523345	C	T	84523345	3	4	137	1	0	0	0	0	1	0	0	0	18211	838	29	2	980	2	ZNF711	23	84523345	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	30960963	84523345	70747215	77	25972											
ZBTB33	10009	broad.mit.edu	37	chrX	119388776	119388776	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtattgtatgcaaaaggtcAtatgtctgtctgacaagctt	11	15	9	6	0	3	1	1	1	2	0	3	1	3	1	0	1	2	4	0	1	6	5			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:119388776A>G	ENST00000326624.2	+	2	1734	c.1506A>G	c.(1504-1506)tcA>tcG	p.S502S	ZBTB33_ENST00000557385.1_Silent_p.S502S	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	502	Interaction with CTNND1 (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCAAAAGGTCATATGTCTGTC	0.383													12	115					0	0	0	0	G	119388776	A	G	119388776	2	3	137	1	0	0	0	0	0	0	0	1	17631	204	8	5		5	ZBTB33	23	119388776	Silent	SNP	A	TCGA-CQ-5330-01A-01D-1683-08	34865431	119388776	35881784	78	25973											
FGF13	2258	broad.mit.edu	37	chrX	137791006	137791006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgtcctcatctttggtgCcatcaatggttccatccgcc	5	14	8	14	1	3	0	2	0	1	0	6	0	6	0	5	2	2	2	5	2	1	2			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:137791006C>T	ENST00000315930.6	-	2	933	c.272G>A	c.(271-273)gGc>gAc	p.G91D	FGF13_ENST00000370603.3_Missense_Mutation_p.G101D|FGF13_ENST00000305414.4_Missense_Mutation_p.G38D|FGF13_ENST00000541469.1_Missense_Mutation_p.G45D|FGF13_ENST00000441825.2_Missense_Mutation_p.G72D	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	91					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					ATCTTTGGTGCCATCAATGGT	0.393													38	167					0	0	0	0	T	137791006	C	T	137791006	3	4	137	1	0	0	0	0	1	0	0	0	5887	739	26	4	481	4	FGF13	23	137791006	Missense_Mutation	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	18402230	137791006	17479554	79	25974											
PLXNA3	55558	broad.mit.edu	37	chrX	153696765	153696765	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctccatgcgcgaccgCggcaccgtggcctcgctcac	5	7	11	18	6	2	0	1	0	1	0	4	1	2	0	4	2	2	3	4	2	0	1	rs140160422	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:153696765C>T	ENST00000369682.3	+	23	4258	c.4083C>T	c.(4081-4083)cgC>cgT	p.R1361R		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1361					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCGCGACCGCGGCACCGTGG	0.667													9	24					0	0	0	0	T	153696765	C	T	153696765	2	4	137	1	0	0	0	0	0	0	0	1	12193	755	27	1		1	PLXNA3	23	153696765	Silent	SNP	C	TCGA-CQ-5330-01A-01D-1683-08	15905759	153696765	1573795	80	25975											
PLOD1	5351	broad.mit.edu	37	chr1	12012751	12012751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaggacagcgacagcgatCagctgttttacaccaagatc	12	7	10	12	2	1	1	1	0	0	1	2	4	1	2	2	1	4	2	2	1	2	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:12012751C>G	ENST00000196061.4	+	5	565	c.538C>G	c.(538-540)Cag>Gag	p.Q180E	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.Q227E	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	180					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGACAGCGATCAGCTGTTTTA	0.617													9	69					0	0	0	0	G	12012751	C	G	12012751	3	3	138	1	0	0	0	0	1	0	0	0	12173	827	29	2	556	2	PLOD1	1	12012751	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08		12012751	237237870	1	25976											
GRIK3	2899	broad.mit.edu	37	chr1	37324810	37324810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcccgctggtagcacaCggacacgatatggacggcgt	8	7	15	11	5	0	0	0	0	0	0	0	3	0	2	1	5	2	3	1	5	2	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:37324810C>T	ENST00000373091.3	-	7	1019	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	GRIK3_ENST00000373093.4_Missense_Mutation_p.V335M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	335					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGGTAGCACACGGACACGATA	0.622													11	112					0	0	0	0	T	37324810	C	T	37324810	3	4	138	1	0	0	0	0	1	0	0	0	6825	536	19	1	1796	1	GRIK3	1	37324810	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	25312059	37324810	211925811	2	25977											
LEPR	3953	broad.mit.edu	37	chr1	66102651	66102651	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattccaaacttgttctactCagactcataagatcatggaa	15	12	5	9	0	4	2	3	0	1	2	5	3	5	3	1	1	2	1	1	1	5	5			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:66102651C>T	ENST00000349533.6	+	20	3636	c.3451C>T	c.(3451-3453)Cag>Tag	p.Q1151*	LEPR_ENST00000406510.3_Nonsense_Mutation_p.Q218*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1151					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTGTTCTACTCAGACTCATAA	0.338													5	91					0	0	0	0	T	66102651	C	T	66102651	4	4	138	1	0	0	0	0	0	1	0	0	8781	827	29	2	3751	2	LEPR	1	66102651	Nonsense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	28777841	66102651	183147970	3	25978											
CHI3L2	1117	broad.mit.edu	37	chr1	111778658	111778658	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactttagagatctggatttCatcaacctcctgtcctttga	9	15	6	11	0	3	2	2	1	1	1	5	4	5	3	3	1	1	0	3	1	2	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:111778658C>T	ENST00000445067.2	+	9	1389	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CHI3L2_ENST00000466741.1_Silent_p.F127F|CHI3L2_ENST00000369744.2_Silent_p.F196F|CHI3L2_ENST00000369748.4_Silent_p.F206F|CHI3L2_ENST00000524472.1_Silent_p.F127F			Q15782	CH3L2_HUMAN	chitinase 3-like 2	206					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		ATCTGGATTTCATCAACCTCC	0.473													49	269					0	0	0	0	T	111778658	C	T	111778658	2	4	138	1	0	0	0	0	0	0	0	1	3370	825	29	2		2	CHI3L2	1	111778658	Silent	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	45676007	111778658	137471963	4	25979											
ZNF697	90874	broad.mit.edu	37	chr1	120168657	120168657	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcctcagagtcctcaaaatCagaacccatccctttgtctt	10	12	5	14	0	4	2	3	0	1	2	7	2	7	2	4	0	1	0	4	0	3	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:120168657C>G	ENST00000421812.2	-	2	186	c.67G>C	c.(67-69)Gat>Cat	p.D23H		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TCCTCAAAATCAGAACCCATC	0.498													23	209					0	0	0	0	G	120168657	C	G	120168657	3	3	138	1	0	0	0	0	1	0	0	0	18195	826	29	2	1578	2	ZNF697	1	120168657	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	8389999	120168657	129081964	5	25980											
S100A8	6279	broad.mit.edu	37	chr1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaccagacgtctgcacccTttttctgtcaagattgagga	10	12	9	10	1	3	4	1	2	2	2	3	5	3	5	2	1	2	1	2	1	2	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:153362715T>C	ENST00000368733.3	-	3	315	c.146A>G	c.(145-147)aAg>aGg	p.K49R	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	49	EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507													3	151					0	0	0	0	C	153362715	T	C	153362715	3	2	138	1	0	0	0	0	1	0	0	0	13871	1609	56	5	139	5	S100A8	1	153362715	Missense_Mutation	SNP	T	TCGA-CQ-5331-01A-02D-1870-08	33194058	153362715	95887906	6	25981											
MTX1	4580	broad.mit.edu	37	chr1	155178627	155178627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggacccccccgcagtccccGctcggggacgagccccaagg	6	2	14	19	4	0	0	0	0	0	0	2	3	1	2	7	4	1	2	7	4	1	0			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:155178627G>A	ENST00000368376.3	+	1	138	c.32G>A	c.(31-33)cGc>cAc	p.R11H	MTX1_ENST00000316721.4_Missense_Mutation_p.R11H	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	11					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCAGTCCCCGCTCGGGGACG	0.677													3	20					0	0	0	0	A	155178627	G	A	155178627	3	1	138	1	0	0	0	0	1	0	0	0	10037	1087	38	1	34	1	MTX1	1	155178627	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	1815912	155178627	94071994	7	25982											
PCP4L1	654790	broad.mit.edu	37	chr1	161254169	161254169	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggcggaggaggaggaggaGattgacattgatctgacagc	13	6	17	5	1	1	4	0	3	1	1	1	9	1	8	0	6	1	0	0	6	1	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:161254169G>A	ENST00000504449.1	+	3	353	c.105G>A	c.(103-105)gaG>gaA	p.E35E		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGAGGAGGAGATTGACATTG	0.488													9	93					0	0	0	0	A	161254169	G	A	161254169	2	1	138	1	0	0	0	0	0	0	0	1	11670	933	33	2		2	PCP4L1	1	161254169	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	6075542	161254169	87996452	8	25983											
CACNA1S	779	broad.mit.edu	37	chr1	201047194	201047194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacatcttcatcagcatctCagtggtgaagagggacagca	12	9	11	9	0	4	2	3	1	2	1	5	3	4	3	0	2	3	3	0	2	2	2	rs9333651		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:201047194C>T	ENST00000362061.3	-	11	1658	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E478K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	478					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATCAGCATCTCAGTGGTGAAG	0.567													22	100					0	0	0	0	T	201047194	C	T	201047194	3	4	138	1	0	0	0	0	1	0	0	0	2572	835	29	2	4325	2	CACNA1S	1	201047194	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	39793025	201047194	48203427	9	25984											
CAPN2	824	broad.mit.edu	37	chr1	223957578	223957578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctggggctgaaggagttCtacattctctggacgaagat	11	10	13	7	1	2	2	0	1	2	1	3	5	2	4	0	4	2	3	0	4	4	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:223957578C>G	ENST00000295006.5	+	17	2100	c.1791C>G	c.(1789-1791)ttC>ttG	p.F597L	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Missense_Mutation_p.F519L	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	597	Domain IV.|EF-hand 1.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TGAAGGAGTTCTACATTCTCT	0.478													2	5					0	0	0	0	G	223957578	C	G	223957578	3	3	138	1	0	0	0	0	1	0	0	0	2652	912	32	2	1864	2	CAPN2	1	223957578	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	22910384	223957578	25293043	10	25985											
OBSCN	84033	broad.mit.edu	37	chr1	228433261	228433261	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaagctgagctccagctCaaaagtacgcatggaggtca	14	6	12	9	1	2	2	2	1	0	1	3	4	3	3	1	2	4	5	1	2	5	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:228433261C>G	ENST00000570156.2	+	13	3979	c.3905C>G	c.(3904-3906)tCa>tGa	p.S1302*	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S1210*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S1210*|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	281	Ig-like 13.|Poly-Ser.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTCCAGCTCAAAAGTACGC	0.627													16	102					0	0	0	0	G	228433261	C	G	228433261	4	3	138	1	0	0	0	0	0	1	0	0	10883	838	29	2	3671	2	OBSCN	1	228433261	Nonsense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	4475683	228433261	20817360	11	25986											
TARBP1	6894	broad.mit.edu	37	chr1	234529206	234529206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaacgagcactgaagcccCaaatacctcacaggtcctgc	14	5	7	15	1	1	1	1	1	0	0	2	2	2	1	4	1	6	1	4	1	5	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:234529206C>A	ENST00000040877.1	-	28	4461	c.4462G>T	c.(4462-4464)Ggg>Tgg	p.G1488W	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1488					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACTGAAGCCCCAAATACCTCA	0.498													14	74					4.36969e-10	4.87833e-10	1	0	A	234529206	C	A	234529206	3	1	138	1	0	0	0	0	1	0	0	0	15646	594	21	4	415	4	TARBP1	1	234529206	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	6095945	234529206	14721415	12	25987											
RGS7	6000	broad.mit.edu	37	chr1	241261998	241261998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggtatcttggaaagaaagCttttgaccgtacgaatagga	14	11	11	5	2	1	2	0	1	1	1	1	5	1	4	1	3	2	3	1	3	7	7			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:241261998C>A	ENST00000366565.1	-	3	524	c.143G>T	c.(142-144)aGc>aTc	p.S48I	RGS7_ENST00000366563.1_Missense_Mutation_p.S48I|RGS7_ENST00000366564.1_Missense_Mutation_p.S48I|RGS7_ENST00000366562.4_Missense_Mutation_p.S48I|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000348120.2_Missense_Mutation_p.S48I|RGS7_ENST00000331110.7_Missense_Mutation_p.S22I|RGS7_ENST00000407727.1_Missense_Mutation_p.S48I|RGS7_ENST00000401882.1_Missense_Mutation_p.S48I	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	48	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGAAAGAAAGCTTTTGACCGT	0.363													10	51					1.08611e-07	1.16923e-07	1	0	A	241261998	C	A	241261998	3	1	138	1	0	0	0	0	1	0	0	0	13393	797	28	4	1384	4	RGS7	1	241261998	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	6732792	241261998	7988623	13	25988											
FAM179A	165186	broad.mit.edu	37	chr2	29240094	29240094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggagatggagctgcttcgGaggctggaggagcccaggac	10	5	18	8	1	0	1	0	0	0	1	1	7	0	6	1	7	3	3	1	7	1	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:29240094G>A	ENST00000379558.4	+	9	1470	c.1119G>A	c.(1117-1119)cgG>cgA	p.R373R	FAM179A_ENST00000403861.2_Silent_p.R373R|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	373							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCTGCTTCGGAGGCTGGAGG	0.577													14	76					0	0	0	0	A	29240094	G	A	29240094	2	1	138	1	0	0	0	0	0	0	0	1	5546	1161	41	2		2	FAM179A	2	29240094	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08		29240094	213959279	14	25989											
SOCS5	9655	broad.mit.edu	37	chr2	46986940	46986940	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcttccgccgctacaacaGatccctgcatgcccgaattg	9	8	9	15	3	0	1	0	0	0	1	2	3	2	1	4	0	5	3	4	0	3	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:46986940G>C	ENST00000306503.5	+	2	1443	c.1271G>C	c.(1270-1272)aGa>aCa	p.R424T	SOCS5_ENST00000394861.2_Missense_Mutation_p.R424T	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	424	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CGCTACAACAGATCCCTGCAT	0.517													16	94					0	0	0	0	C	46986940	G	C	46986940	3	2	138	1	0	0	0	0	1	0	0	0	15005	942	33	2	1273	2	SOCS5	2	46986940	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	17746846	46986940	196212433	15	25990											
PDCL3	79031	broad.mit.edu	37	chr2	101188255	101188255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcggcatgaacctgacaaGagatggtaagggctctggga	11	7	16	7	1	1	3	0	2	1	1	1	5	1	4	1	5	1	3	1	5	3	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:101188255G>C	ENST00000264254.6	+	5	950	c.572G>C	c.(571-573)aGa>aCa	p.R191T		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	191					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						AACCTGACAAGAGATGGTAAG	0.502													30	162					0	0	0	0	C	101188255	G	C	101188255	3	2	138	1	0	0	0	0	1	0	0	0	11699	942	33	2	590	2	PDCL3	2	101188255	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	54201315	101188255	142011118	16	25991											
POTEE	445582	broad.mit.edu	37	chr2	132021797	132021797	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgctatgttgccctggacttCgagcaggagatggccacggc	7	9	14	11	2	0	1	0	0	0	1	1	4	0	2	2	4	3	3	2	4	1	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:132021797C>G	ENST00000356920.5	+	15	2863	c.2769C>G	c.(2767-2769)ttC>ttG	p.F923L	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	923	Actin-like.						ATP binding										CCCTGGACTTCGAGCAGGAGA	0.597													17	383					0	0	0	0	G	132021797	C	G	132021797	3	3	138	1	0	0	0	0	1	0	0	0	12336	883	31	3	2827	3	POTEE	2	132021797	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	30833542	132021797	111177576	17	25992											
GPR39	2863	broad.mit.edu	37	chr2	133174980	133174980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaggcctgcagctacgctaCgctgctgcacgtgctgacac	7	7	12	15	4	0	1	0	1	0	0	0	2	0	1	1	1	7	7	1	1	2	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:133174980C>T	ENST00000329321.3	+	1	834	c.365C>T	c.(364-366)aCg>aTg	p.T122M		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	122						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCTACGCTACGCTGCTGCAC	0.572													17	61					0	0	0	0	T	133174980	C	T	133174980	3	4	138	1	0	0	0	0	1	0	0	0	6742	536	19	1	367	1	GPR39	2	133174980	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	1153183	133174980	110024393	18	25993											
NEB	4703	broad.mit.edu	37	chr2	152383461	152383461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaaagtattcctgagggCgagcaccgtgtttttgtcat	9	15	10	7	2	1	1	1	1	0	0	2	2	2	1	2	1	1	3	2	1	4	6			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:152383461C>A	ENST00000427231.2	-	148	22118	c.21916G>T	c.(21916-21918)Gcc>Tcc	p.A7306S	NEB_ENST00000397345.3_Missense_Mutation_p.A7306S|NEB_ENST00000603639.1_Missense_Mutation_p.A7306S|NEB_ENST00000604864.1_Missense_Mutation_p.A7306S|NEB_ENST00000409198.1_Missense_Mutation_p.A5605S|NEB_ENST00000172853.10_Missense_Mutation_p.A5605S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5605					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCTGAGGGCGAGCACCGTG	0.463													4	20					4.096e-09	4.50133e-09	1	0	A	152383461	C	A	152383461	3	1	138	1	0	0	0	0	1	0	0	0	10372	768	27	3	3801	3	NEB	2	152383461	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	19208481	152383461	90815912	19	25994											
TTN	7273	broad.mit.edu	37	chr2	179529384	179529384	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagcaagatataccttCatcaggaaggacttcaggct	12	10	8	11	0	3	1	3	0	0	1	4	3	4	3	2	3	2	2	2	3	4	5			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:179529384C>A	ENST00000589042.1	-	167	36423	c.36199G>T	c.(36199-36201)Gaa>Taa	p.E12067*	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10214	Ig-like 80.						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)			GATATACCTTCATCAGGAAGG	0.378													11	69					4.68919e-08	5.1001e-08	1	0	A	179529384	C	A	179529384	4	1	138	1	0	0	0	0	0	1	0	0	16831	841	29	2		2	TTN	2	179529384	Nonsense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	27145923	179529384	63669989	20	25995											
TTN	7273	broad.mit.edu	37	chr2	179611406	179611406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttttgaatgttagaaatttCcagtgaacacacattaccca	14	14	5	8	0	0	3	0	2	0	1	1	3	1	3	2	0	2	1	2	0	5	5	rs147119153		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:179611406C>G	ENST00000360870.5	-	46	15943	c.15721G>C	c.(15721-15723)Gaa>Caa	p.E5241Q	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8760	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E5241K(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)			TTAGAAATTTCCAGTGAACAC	0.393													10	155					0	0	0	0	G	179611406	C	G	179611406	3	3	138	1	0	0	0	0	1	0	0	0	16831	864	30	2	94576	2	TTN	2	179611406	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	82022	179611406	63587967	21	25996											
TTN	7273	broad.mit.edu	37	chr2	179611715	179611715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgtaccgtcttccctttCtatttttgatggatatgttt	5	21	8	7	1	2	1	0	1	2	0	3	2	3	2	2	2	1	2	2	2	3	8			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:179611715C>T	ENST00000360870.5	-	46	15634	c.15412G>A	c.(15412-15414)Gaa>Aaa	p.E5138K	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1039	Ig-like 32.						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)			TCTTCCCTTTCTATTTTTGAT	0.443													36	141					0	0	0	0	T	179611715	C	T	179611715	3	4	138	1	0	0	0	0	1	0	0	0	16831	922	32	2	94885	2	TTN	2	179611715	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	309	179611715	63587658	22	25997											
AOX1	316	broad.mit.edu	37	chr2	201485524	201485524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttttgtgactagttcaaGagctcatgctaagattgtgt	10	15	10	6	0	2	3	2	1	0	2	2	4	2	3	0	0	2	3	0	0	3	6			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:201485524G>C	ENST00000374700.2	+	17	2097	c.1856G>C	c.(1855-1857)aGa>aCa	p.R619T	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	619					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACTAGTTCAAGAGCTCATGCT	0.423													9	35					0	0	0	0	C	201485524	G	C	201485524	3	2	138	1	0	0	0	0	1	0	0	0	730	942	33	2	1922	2	AOX1	2	201485524	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	21873809	201485524	41713849	23	25998											
CASP8	841	broad.mit.edu	37	chr2	202131505	202131505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaggcagggctcaaatttCtgcctacaggtgggtggaaa	11	8	13	9	0	2	0	1	0	1	0	2	1	2	1	2	5	2	2	2	5	3	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:202131505C>T	ENST00000358485.4	+	2	669	c.473C>T	c.(472-474)tCt>tTt	p.S158F	CASP8_ENST00000392266.3_Missense_Mutation_p.S99F|CASP8_ENST00000392259.2_Missense_Mutation_p.S99F|CASP8_ENST00000264274.9_Missense_Mutation_p.S99F|CASP8_ENST00000264275.5_Missense_Mutation_p.S99F|CASP8_ENST00000323492.7_Missense_Mutation_p.S99F|CASP8_ENST00000432109.2_Missense_Mutation_p.S99F|CASP8_ENST00000392258.3_Missense_Mutation_p.S99F	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	99	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTCAAATTTCTGCCTACAGG	0.493										HNSCC(4;0.00038)			5	42					0	0	0	0	T	202131505	C	T	202131505	3	4	138	1	0	0	0	0	1	0	0	0	2702	913	32	2	479	2	CASP8	2	202131505	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	645981	202131505	41067868	24	25999											
ARPC2	10109	broad.mit.edu	37	chr2	219082227	219082227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgaacaaccgcatcatcGaggagacgctcgcgctcaag	12	5	12	12	5	2	2	2	1	0	1	4	4	2	2	1	2	2	3	1	2	3	0			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:219082227G>A	ENST00000295685.10	+	1	295	c.34G>A	c.(34-36)Gag>Aag	p.E12K	ARPC2_ENST00000315717.5_Missense_Mutation_p.E12K	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	12					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CCGCATCATCGAGGAGACGCT	0.687													6	36					0	0	0	0	A	219082227	G	A	219082227	3	1	138	1	0	0	0	0	1	0	0	0	975	1059	37	1	36	1	ARPC2	2	219082227	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	16950722	219082227	24117146	25	26000											
NMUR1	10316	broad.mit.edu	37	chr2	232392867	232392867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacttgtctccggccccgatCgtgctgctggagcctgcagg	4	9	13	15	3	1	0	0	0	1	0	3	2	1	1	4	3	4	3	4	3	0	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:232392867C>T	ENST00000305141.4	-	2	998	c.865G>A	c.(865-867)Gat>Aat	p.D289N		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	289					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGCCCCGATCGTGCTGCTGG	0.652													11	74					0	0	0	0	T	232392867	C	T	232392867	3	4	138	1	0	0	0	0	1	0	0	0	10576	884	31	1	423	1	NMUR1	2	232392867	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	13310640	232392867	10806506	26	26001											
CLEC3B	7123	broad.mit.edu	37	chr3	45077267	45077267	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaccggcgcccgcatcgccTacaagaactgggagactgag	10	5	13	13	4	0	4	0	2	0	2	1	5	0	4	3	2	2	1	3	2	3	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:45077267T>C	ENST00000296130.4	+	3	640	c.460T>C	c.(460-462)Tac>Cac	p.Y154H	CLEC3B_ENST00000428034.1_Missense_Mutation_p.Y112H|CLEC3B_ENST00000490386.1_3'UTR	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	154	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGCATCGCCTACAAGAACTG	0.667													3	73					0	0	0	0	C	45077267	T	C	45077267	3	2	138	1	0	0	0	0	1	0	0	0	3541	1522	53	5	470	5	CLEC3B	3	45077267	Missense_Mutation	SNP	T	TCGA-CQ-5331-01A-02D-1870-08		45077267	152945163	27	26002											
MST1R	4486	broad.mit.edu	37	chr3	49927421	49927421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccaggaagtgggtaaggtCaaaagggtcaatgtggcggt	11	7	18	5	1	2	0	2	0	0	0	2	1	2	1	1	7	0	1	1	7	5	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:49927421C>T	ENST00000296474.3	-	19	3910	c.3883G>A	c.(3883-3885)Gac>Aac	p.D1295N	MST1R_ENST00000344206.4_Missense_Mutation_p.D1246N	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1295	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGGTAAGGTCAAAAGGGTCA	0.602													11	83					0	0	0	0	T	49927421	C	T	49927421	3	4	138	1	0	0	0	0	1	0	0	0	9961	826	29	2	327	2	MST1R	3	49927421	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	4850154	49927421	148095009	28	26003											
DNAH1	25981	broad.mit.edu	37	chr3	52394093	52394093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccagtggatctcacagctGaggtgaggacatggggggcg	8	8	17	8	1	1	2	1	2	1	0	3	4	2	4	1	6	1	1	1	6	0	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:52394093G>A	ENST00000420323.2	+	27	4830	c.4569G>A	c.(4567-4569)ctG>ctA	p.L1523L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1523	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTCACAGCTGAGGTGAGGAC	0.562													20	93					0	0	0	0	A	52394093	G	A	52394093	2	1	138	1	0	0	0	0	0	0	0	1	4634	1277	45	2		2	DNAH1	3	52394093	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	2466672	52394093	145628337	29	26004											
CCDC66	285331	broad.mit.edu	37	chr3	56605280	56605280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatccttggaaaaaatctGaaagtgataaaataatatgg	19	11	8	3	0	1	3	0	3	1	0	2	4	2	4	1	2	0	0	1	2	8	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:56605280G>A	ENST00000394672.3	+	7	956	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	CCDC66_ENST00000326595.7_Missense_Mutation_p.E262K|CCDC66_ENST00000436465.2_Missense_Mutation_p.E296K	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	296										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAAAAAATCTGAAAGTGATAA	0.269													15	89					0	0	0	0	A	56605280	G	A	56605280	3	1	138	1	0	0	0	0	1	0	0	0	2865	1291	45	2	912	2	CCDC66	3	56605280	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	4211187	56605280	141417150	30	26005											
ROBO2	6092	broad.mit.edu	37	chr3	77666886	77666886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggctcacctggatgagttGacaagagcctatcagtttga	11	10	11	9	0	2	4	2	3	0	1	2	5	2	5	2	2	1	3	2	2	2	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:77666886G>C	ENST00000461745.1	+	22	4416	c.3516G>C	c.(3514-3516)ttG>ttC	p.L1172F	ROBO2_ENST00000332191.8_Missense_Mutation_p.L1172F|ROBO2_ENST00000487694.3_Missense_Mutation_p.L1188F|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1172					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGATGAGTTGACAAGAGCCT	0.433													10	65					0	0	0	0	C	77666886	G	C	77666886	3	2	138	1	0	0	0	0	1	0	0	0	13599	1281	45	2	3604	2	ROBO2	3	77666886	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	21061606	77666886	120355544	31	26006											
ROBO1	6091	broad.mit.edu	37	chr3	78656171	78656171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgactttatagcaggtggcgGcacaggaggtggtggaagat	10	9	17	5	1	0	2	0	1	0	1	0	4	0	4	0	7	1	2	0	7	3	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:78656171G>A	ENST00000436010.2	-	27	5336	c.4339C>T	c.(4339-4341)Ccg>Tcg	p.P1447S	ROBO1_ENST00000467549.1_Missense_Mutation_p.P1386S|ROBO1_ENST00000464233.1_Missense_Mutation_p.P1486S|ROBO1_ENST00000495273.1_Missense_Mutation_p.P1441S|ROBO1_ENST00000466906.1_5'UTR			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1486					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GCAGGTGGCGGCACAGGAGGT	0.423													4	75					0	0	0	0	A	78656171	G	A	78656171	3	1	138	1	0	0	0	0	1	0	0	0	13598	1203	42	4	511	4	ROBO1	3	78656171	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	989285	78656171	119366259	32	26007											
DRD3	1814	broad.mit.edu	37	chr3	113850003	113850003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggttgccttcttctccCgaagtggcactccccgaggt	4	13	11	13	2	2	0	0	0	2	0	4	2	3	0	4	3	1	2	4	3	1	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:113850003C>A	ENST00000383673.2	-	6	1398	c.968G>T	c.(967-969)cGg>cTg	p.R323L	DRD3_ENST00000467632.1_Missense_Mutation_p.R323L|DRD3_ENST00000295881.7_Missense_Mutation_p.R290L|DRD3_ENST00000460779.1_Missense_Mutation_p.R323L	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	323					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CTTCTTCTCCCGAAGTGGCAC	0.512													22	109					7.41877e-09	8.11068e-09	1	0	A	113850003	C	A	113850003	3	1	138	1	0	0	0	0	1	0	0	0	4794	652	23	3	242	3	DRD3	3	113850003	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	35193832	113850003	84172427	33	26008											
ACPP	55	broad.mit.edu	37	chr3	132047150	132047150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagtcccattgacacctttCccactgaccccataaaggaa	13	8	6	14	0	0	2	0	2	0	0	2	4	2	3	5	1	0	0	5	1	4	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:132047150C>A	ENST00000336375.5	+	2	250	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	ACPP_ENST00000475741.1_Missense_Mutation_p.P54T|ACPP_ENST00000351273.7_Missense_Mutation_p.P54T|ACPP_ENST00000489084.1_3'UTR	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	54						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TGACACCTTTCCCACTGACCC	0.473													7	80					1.26484e-09	1.39729e-09	1	0	A	132047150	C	A	132047150	3	1	138	1	0	0	0	0	1	0	0	0	167	855	30	2	166	2	ACPP	3	132047150	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	18197147	132047150	65975280	34	26009											
GPR149	344758	broad.mit.edu	37	chr3	154146734	154146734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggtagttggagtggagtCtcggcggctcctccgaacac	6	9	14	12	3	1	0	0	0	1	0	4	3	3	2	3	5	1	3	3	5	2	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:154146734C>T	ENST00000389740.2	-	1	770	c.671G>A	c.(670-672)aGa>aAa	p.R224K		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	224						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGAGTGGAGTCTCGGCGGCTC	0.577													10	84					0	0	0	0	T	154146734	C	T	154146734	3	4	138	1	0	0	0	0	1	0	0	0	6703	913	32	2	1540	2	GPR149	3	154146734	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	22099584	154146734	43875696	35	26010											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	53					0	0	0	0	G	178952085	A	G	178952085	3	3	138	1	0	0	0	0	1	0	0	0	11985	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-CQ-5331-01A-02D-1870-08	24805351	178952085	19070345	36	26011											
GP5	2814	broad.mit.edu	37	chr3	194118459	194118459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaagcaaccccttgggcaGgtgggtcaggttgtttcccg	6	10	13	12	1	1	0	1	0	0	0	3	0	3	0	4	4	2	4	4	4	2	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:194118459G>T	ENST00000401815.1	-	1	624	c.553C>A	c.(553-555)Ctg>Atg	p.L185M	GP5_ENST00000323007.3_Missense_Mutation_p.L185M			P40197	GPV_HUMAN	glycoprotein V (platelet)	185					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CCCTTGGGCAGGTGGGTCAGG	0.542													19	83					9.7654e-05	0.000102005	1	0	T	194118459	G	T	194118459	3	4	138	1	0	0	0	0	1	0	0	0	6632	991	35	4	1133	4	GP5	3	194118459	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	15166374	194118459	3903971	37	26012											
ZNF141	7700	broad.mit.edu	37	chr4	337651	337651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccctgaccagcagaatttGtatagagatgtgatgttgga	12	11	12	6	0	0	4	0	2	0	2	0	7	0	5	2	1	1	3	2	1	3	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:337651G>A	ENST00000240499.7	+	2	233	c.84G>A	c.(82-84)ttG>ttA	p.L28L	ZNF141_ENST00000512994.1_Silent_p.L28L|ZNF141_ENST00000505939.1_Silent_p.L28L	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	28	KRAB.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.L28L(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AGCAGAATTTGTATAGAGATG	0.388													4	145					0	0	0	0	A	337651	G	A	337651	2	1	138	1	0	0	0	0	0	0	0	1	17825	1368	48	4		4	ZNF141	4	337651	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08		337651	190816625	38	26013											
DCAF16	54876	broad.mit.edu	37	chr4	17805653	17805653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcaccatagagtcctcttCttcagaggaatcccactctt	9	11	8	13	0	4	2	1	0	3	2	6	3	6	3	3	2	0	1	3	2	2	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:17805653C>T	ENST00000382247.1	-	3	1172	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	DCAF16_ENST00000536863.1_Missense_Mutation_p.E38K	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	38						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GAGTCCTCTTCTTCAGAGGAA	0.423													13	103					0	0	0	0	T	17805653	C	T	17805653	3	4	138	1	0	0	0	0	1	0	0	0	4301	922	32	2	542	2	DCAF16	4	17805653	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	17468002	17805653	173348623	39	26014											
CWH43	80157	broad.mit.edu	37	chr4	49052833	49052833	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagtggtcatagaccacaGagaagtttctgagaaaattc	16	9	10	6	0	2	3	1	1	1	3	3	6	2	3	1	1	0	1	1	1	5	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:49052833G>C	ENST00000226432.4	+	15	2171	c.1988G>C	c.(1987-1989)aGa>aCa	p.R663T	CWH43_ENST00000513409.1_Missense_Mutation_p.R636T	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	663					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ATAGACCACAGAGAAGTTTCT	0.398													5	51					0	0	0	0	C	49052833	G	C	49052833	3	2	138	1	0	0	0	0	1	0	0	0	4105	942	33	2	2046	2	CWH43	4	49052833	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	31247180	49052833	142101443	40	26015											
SCLT1	132320	broad.mit.edu	37	chr4	129857913	129857913	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctaggagatgcctcagttCaacaatggaatttctattac	12	12	8	9	1	3	1	2	0	1	1	3	3	3	2	1	2	3	2	1	2	6	5			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:129857913C>G	ENST00000281142.5	-	18	2229	c.1726G>C	c.(1726-1728)Gaa>Caa	p.E576Q	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	576						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGCCTCAGTTCAACAATGGAA	0.363													7	35					0	0	0	0	G	129857913	C	G	129857913	3	3	138	1	0	0	0	0	1	0	0	0	13993	835	29	2	356	2	SCLT1	4	129857913	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	80805080	129857913	61296363	41	26016											
MARCH11	441061	broad.mit.edu	37	chr5	16067874	16067874	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcgcttaaacactctgtaAactgcagctccttcatgaac	12	10	6	13	1	2	1	1	1	1	0	3	1	3	1	1	0	6	4	1	0	5	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:16067874A>T	ENST00000332432.8	-	4	1114	c.915T>A	c.(913-915)gtT>gtA	p.V305V		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	305						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ACACTCTGTAAACTGCAGCTC	0.408													6	46					0	0	0	0	T	16067874	A	T	16067874	2	4	138	1	0	0	0	0	0	0	0	1	9369	1	1	5		5	MARCH11	5	16067874	Silent	SNP	A	TCGA-CQ-5331-01A-02D-1870-08		16067874	164847386	42	26017											
CWC27	10283	broad.mit.edu	37	chr5	64267529	64267529	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatattctactattctttaGaggaagaagcccctccagat	14	12	6	9	0	2	3	0	0	2	3	3	4	3	4	3	1	2	0	3	1	7	7			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:64267529G>C	ENST00000381070.3	+	12	1259		c.e12-1		CWC27_ENST00000545000.1_Splice_Site	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)						protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						CTATTCTTTAGAGGAAGAAGC	0.418													7	92					0	0	0	0	C	64267529	G	C	64267529	5	2	138	1	0	0	0	0	0	0	1	0	4102	956	33	2	1088	2	CWC27	5	64267529	Splice_Site	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	48199655	64267529	116647731	43	26018											
MARVELD2	153562	broad.mit.edu	37	chr5	68715437	68715437	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagctatagcgccagatctCaaaccagtaaggcgctttgt	11	9	9	12	2	1	1	1	0	1	1	2	1	1	1	3	1	3	3	3	1	4	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:68715437C>G	ENST00000325631.5	+	2	299	c.225C>G	c.(223-225)ctC>ctG	p.L75L	MARVELD2_ENST00000413223.2_Silent_p.L75L	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	75					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CGCCAGATCTCAAACCAGTAA	0.522													9	66					0	0	0	0	G	68715437	C	G	68715437	2	3	138	1	0	0	0	0	0	0	0	1	9387	813	29	2		2	MARVELD2	5	68715437	Silent	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	4447908	68715437	112199823	44	26019											
ZNF366	167465	broad.mit.edu	37	chr5	71757020	71757020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgtggtttttgttctcctCtgagtggagggcgagggtga	4	13	17	7	2	2	2	0	2	2	0	3	4	2	3	2	4	0	2	2	4	0	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:71757020C>G	ENST00000318442.5	-	2	794	c.304G>C	c.(304-306)Gag>Cag	p.E102Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTGTTCTCCTCTGAGTGGAGG	0.582													54	232					0	0	0	0	G	71757020	C	G	71757020	3	3	138	1	0	0	0	0	1	0	0	0	17965	922	32	2	1946	2	ZNF366	5	71757020	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	3041583	71757020	109158240	45	26020											
KIF3A	11127	broad.mit.edu	37	chr5	132051521	132051521	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagcatcctttggatcttCattaattctagctttatttt	10	19	4	8	0	3	0	1	0	2	0	4	1	4	1	1	1	2	2	1	1	4	9			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:132051521C>G	ENST00000378746.4	-	8	1275	c.1057G>C	c.(1057-1059)Gaa>Caa	p.E353Q	AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.E353Q|KIF3A_ENST00000378735.1_Missense_Mutation_p.E353Q	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	353					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGGATCTTCATTAATTCTA	0.333													9	48					0	0	0	0	G	132051521	C	G	132051521	3	3	138	1	0	0	0	0	1	0	0	0	8351	835	29	2	1082	2	KIF3A	5	132051521	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	60294501	132051521	48863739	46	26021											
PCDHA10	56139	broad.mit.edu	37	chr5	140237074	140237074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggtgtctgcgtgggacGcggacgcgcaggagaacgcc	7	5	17	12	7	2	1	1	0	1	1	2	4	2	3	1	4	2	1	1	4	1	0			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:140237074G>A	ENST00000307360.5	+	1	1441	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481T	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.A481S(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.662													24	142					0	0	0	0	A	140237074	G	A	140237074	3	1	138	1	0	0	0	0	1	0	0	0	11591	1087	38	1	1443	1	PCDHA10	5	140237074	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	8185553	140237074	40678186	47	26022											
ADRB2	154	broad.mit.edu	37	chr5	148206508	148206508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggtggtgggcatgggcatCgtcatgtctctcatcgtcct	4	13	14	10	2	3	0	2	0	1	0	7	0	4	0	1	4	0	2	1	4	0	0			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:148206508C>T	ENST00000305988.4	+	1	353	c.114C>T	c.(112-114)atC>atT	p.I38I		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	38					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GCATGGGCATCGTCATGTCTC	0.592													16	127					0	0	0	0	T	148206508	C	T	148206508	2	4	138	1	0	0	0	0	0	0	0	1	341	874	31	1		1	ADRB2	5	148206508	Silent	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	7969434	148206508	32708752	48	26023											
SH3TC2	79628	broad.mit.edu	37	chr5	148427536	148427536	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggagcggctctttacacaGaaggagagtgtcaggtctta	10	10	13	8	1	3	2	1	0	2	2	3	4	3	3	0	4	2	1	0	4	3	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:148427536G>A	ENST00000515425.1	-	3	269	c.168C>T	c.(166-168)ttC>ttT	p.F56F	SH3TC2_ENST00000512049.1_Silent_p.F56F|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	56							binding			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)			TCTTTACACAGAAGGAGAGTG	0.502													20	171					0	0	0	0	A	148427536	G	A	148427536	2	1	138	1	0	0	0	0	0	0	0	1	14350	933	33	2		2	SH3TC2	5	148427536	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	221028	148427536	32487724	49	26024											
ZNF354A	6940	broad.mit.edu	37	chr5	178152447	178152447	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgctgcaacagggagatCacttttggtttggtaaatgg	9	13	12	7	0	1	1	1	0	0	1	1	2	1	1	1	4	3	4	1	4	3	5	rs146853988	by1000genomes	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:178152447C>T	ENST00000335815.2	-	4	383	c.186G>A	c.(184-186)gtG>gtA	p.V62V		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	62	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACAGGGAGATCACTTTTGGTT	0.468													15	113					0	0	0	0	T	178152447	C	T	178152447	2	4	138	1	0	0	0	0	0	0	0	1	17959	813	29	2		2	ZNF354A	5	178152447	Silent	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	29724911	178152447	2762813	50	26025											
ADAMTS2	9509	broad.mit.edu	37	chr5	178563011	178563011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacctccccggtctcccTggactcgcagtacaggtggc	6	7	10	18	2	1	0	0	0	1	0	4	1	2	1	5	4	1	2	5	4	1	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:178563011T>C	ENST00000251582.7	-	13	2085	c.1984A>G	c.(1984-1986)Agg>Ggg	p.R662G		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	662	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGGTCTCCCTGGACTCGCAG	0.632													5	144					0	0	0	0	C	178563011	T	C	178563011	3	2	138	1	0	0	0	0	1	0	0	0	265	1579	55	5	1691	5	ADAMTS2	5	178563011	Missense_Mutation	SNP	T	TCGA-CQ-5331-01A-02D-1870-08	410564	178563011	2352249	51	26026											
HSPA1L	3305	broad.mit.edu	37	chr6	31779660	31779660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccctggtcgttggcgatGatctccaccttgccgtgctg	3	13	12	13	3	1	1	0	1	1	0	3	2	1	1	4	2	3	2	4	2	0	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:31779660G>A	ENST00000375654.4	-	2	279	c.90C>T	c.(88-90)atC>atT	p.I30I	HSPA1L_ENST00000417199.3_Silent_p.I30I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	30					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGTTGGCGATGATCTCCACCT	0.607													8	120					0	0	0	0	A	31779660	G	A	31779660	2	1	138	1	0	0	0	0	0	0	0	1	7462	1280	45	2		2	HSPA1L	6	31779660	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08		31779660	139335407	52	26027											
ZNF318	24149	broad.mit.edu	37	chr6	43323487	43323487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcctcatcttcaatgtcggGaaagctacgtcgcctttttt	7	15	7	12	3	3	0	2	0	1	0	6	1	4	1	2	1	2	1	2	1	3	5			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:43323487G>A	ENST00000361428.2	-	4	1662	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S	ZNF318_ENST00000318149.3_Missense_Mutation_p.P529S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	529					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCAATGTCGGGAAAGCTACGT	0.488													87	334					0	0	0	0	A	43323487	G	A	43323487	3	1	138	1	0	0	0	0	1	0	0	0	17931	1174	41	2	5282	2	ZNF318	6	43323487	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	11543827	43323487	127791580	53	26028											
TFAP2D	83741	broad.mit.edu	37	chr6	50740385	50740385	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcatggctttgggactccGgcaatatgtgcagctctaag	9	11	11	10	1	2	0	1	0	1	0	3	1	3	1	1	3	2	4	1	3	3	3	rs149503577		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:50740385G>A	ENST00000008391.3	+	8	1395	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	389	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TTGGGACTCCGGCAATATGTG	0.428													12	69					0	0	0	0	A	50740385	G	A	50740385	2	1	138	1	0	0	0	0	0	0	0	1	15884	1103	39	1		1	TFAP2D	6	50740385	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	7416898	50740385	120374682	54	26029											
PKHD1	5314	broad.mit.edu	37	chr6	51612823	51612823	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgaattcctaagcacaatCtgcacttttttgacggaatt	12	14	6	9	1	1	2	0	2	1	0	2	3	2	3	1	1	2	2	1	1	4	6			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:51612823C>G	ENST00000371117.3	-	58	9866	c.9591G>C	c.(9589-9591)caG>caC	p.Q3197H	PKHD1_ENST00000340994.4_Missense_Mutation_p.Q3197H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3197					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAAGCACAATCTGCACTTTTT	0.423													27	164					0	0	0	0	G	51612823	C	G	51612823	3	3	138	1	0	0	0	0	1	0	0	0	12043	912	32	2	2712	2	PKHD1	6	51612823	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	872438	51612823	119502244	55	26030											
PKHD1	5314	broad.mit.edu	37	chr6	51934279	51934279	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtgtctggtataggaaaaGatcctgtttagcactgatca	11	13	11	6	0	2	2	1	1	1	1	3	3	3	3	1	2	1	3	1	2	5	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:51934279G>C	ENST00000371117.3	-	11	1029	c.754C>G	c.(754-756)Ctt>Gtt	p.L252V	PKHD1_ENST00000340994.4_Missense_Mutation_p.L252V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	252					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TATAGGAAAAGATCCTGTTTA	0.453													42	247					0	0	0	0	C	51934279	G	C	51934279	3	2	138	1	0	0	0	0	1	0	0	0	12043	942	33	2	11737	2	PKHD1	6	51934279	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	321456	51934279	119180788	56	26031											
MCM3	4172	broad.mit.edu	37	chr6	52129419	52129419	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgccctcagacaccatGacctgattgtcatcctgcat	10	11	7	13	0	2	4	2	3	0	1	3	4	3	4	4	0	2	1	4	0	0	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:52129419G>T	ENST00000596288.1	-	17	2556	c.2529C>A	c.(2527-2529)gtC>gtA	p.V843V	MCM3_ENST00000419835.2_Silent_p.V752V|MCM3_ENST00000229854.7_Silent_p.V798V	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	798					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CAGACACCATGACCTGATTGT	0.532													11	139					0.000978159	0.00101172	1	0	T	52129419	G	T	52129419	2	4	138	1	0	0	0	0	0	0	0	1	9456	1277	45	2		2	MCM3	6	52129419	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	195140	52129419	118985648	57	26032											
SYNCRIP	10492	broad.mit.edu	37	chr6	86346765	86346765	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attgagaccagtgagtggatCcatcattagacgaagatccc	13	9	10	9	1	1	4	1	2	0	3	3	7	3	5	3	1	0	0	3	1	2	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:86346765C>G	ENST00000355238.6	-	6	792	c.586G>C	c.(586-588)Gat>Cat	p.D196H	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.D196H	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	196	RRM 1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GTGAGTGGATCCATCATTAGA	0.403													9	69					0	0	0	0	G	86346765	C	G	86346765	3	3	138	1	0	0	0	0	1	0	0	0	15535	855	30	2	1355	2	SYNCRIP	6	86346765	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	34217346	86346765	84768302	58	26033											
BACH2	60468	broad.mit.edu	37	chr6	90660199	90660199	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgaggaggagaactcacaGagagggaggctgcagggtga	12	3	20	6	1	1	3	1	1	0	2	1	8	1	5	0	6	2	2	0	6	1	0	rs142894061	by1000genomes	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:90660199G>C	ENST00000257749.4	-	7	2333	c.1626C>G	c.(1624-1626)ctC>ctG	p.L542L	RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.L542L|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.L542L	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	542						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGAACTCACAGAGAGGGAGGC	0.607													26	55					0	0	0	0	C	90660199	G	C	90660199	2	2	138	1	0	0	0	0	0	0	0	1	1288	929	33	2		2	BACH2	6	90660199	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	4313434	90660199	80454868	59	26034											
KIAA1919	91749	broad.mit.edu	37	chr6	111587118	111587118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctatttggggggacaaagGagccccacatatgcaggcct	10	7	14	10	0	0	0	0	0	0	0	0	2	0	2	3	6	2	2	3	6	3	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:111587118G>A	ENST00000368847.4	+	4	706	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	118					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GGGGACAAAGGAGCCCCACAT	0.433													27	70					0	0	0	0	A	111587118	G	A	111587118	3	1	138	1	0	0	0	0	1	0	0	0	8313	1174	41	2	367	2	KIAA1919	6	111587118	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	20926919	111587118	59527949	60	26035											
UTRN	7402	broad.mit.edu	37	chr6	144780337	144780337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacaaatcttcttggccttCaccccaaaattgaaatggct	12	12	6	11	0	3	2	1	2	2	0	3	2	3	2	3	2	0	1	3	2	4	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:144780337C>T	ENST00000367545.3	+	20	2554	c.2554C>T	c.(2554-2556)Cac>Tac	p.H852Y		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	852	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTTGGCCTTCACCCCAAAAT	0.507													4	54					0	0	0	0	T	144780337	C	T	144780337	3	4	138	1	0	0	0	0	1	0	0	0	17199	826	29	2	2632	2	UTRN	6	144780337	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	33193219	144780337	26334730	61	26036											
C1GALT1	56913	broad.mit.edu	37	chr7	7278194	7278194	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgacacgtatgtcatactaGacaatttgaggtggcttctt	11	14	9	7	1	2	3	1	2	1	1	2	3	2	3	0	2	1	2	0	2	4	6			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:7278194G>C	ENST00000436587.2	+	3	752	c.529G>C	c.(529-531)Gac>Cac	p.D177H	C1GALT1_ENST00000223122.2_Missense_Mutation_p.D177H|C1GALT1_ENST00000402468.3_Missense_Mutation_p.D177H	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	177					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TGTCATACTAGACAATTTGAG	0.368													8	69					0	0	0	0	C	7278194	G	C	7278194	3	2	138	1	0	0	0	0	1	0	0	0	1971	942	33	2	535	2	C1GALT1	7	7278194	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08		7278194	151860469	62	26037											
DNAH11	8701	broad.mit.edu	37	chr7	21939660	21939660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaaacgcgcttgactgctGatgttaccaaaaaaacaaag	18	8	7	8	2	0	2	0	2	0	0	0	2	0	2	1	0	4	3	1	0	7	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:21939660G>A	ENST00000328843.6	+	82	13277	c.13246G>A	c.(13246-13248)Gat>Aat	p.D4416N	DNAH11_ENST00000409508.3_Missense_Mutation_p.D4409N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4416					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTTGACTGCTGATGTTACCAA	0.448									Kartagener syndrome				13	48					0	0	0	0	A	21939660	G	A	21939660	3	1	138	1	0	0	0	0	1	0	0	0	4636	1290	45	2	13569	2	DNAH11	7	21939660	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	14661466	21939660	137199003	63	26038											
ABCB1	5243	broad.mit.edu	37	chr7	87148696	87148696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaagtaggctccaaacCggaaacatccagcataggaa	16	4	8	13	1	0	0	0	0	0	0	2	2	2	2	5	3	3	3	5	3	6	2	rs144369247		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:87148696C>T	ENST00000265724.3	-	24	3290	c.2873G>A	c.(2872-2874)cGg>cAg	p.R958Q	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R894Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	958	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGCTCCAAACCGGAAACATCC	0.383													10	60					0	0	0	0	T	87148696	C	T	87148696	3	4	138	1	0	0	0	0	1	0	0	0	40	652	23	1	993	1	ABCB1	7	87148696	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	65209036	87148696	71989967	64	26039											
ADAM22	53616	broad.mit.edu	37	chr7	87782587	87782587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactgaatattgaagggaCggagaagggtaactgtggga	15	7	16	3	1	0	3	0	2	0	1	0	7	0	5	0	4	2	1	0	4	6	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:87782587C>T	ENST00000398204.4	+	21	2056	c.1733C>T	c.(1732-1734)aCg>aTg	p.T578M	ADAM22_ENST00000398209.3_Missense_Mutation_p.T578M|ADAM22_ENST00000398201.4_Missense_Mutation_p.T578M|ADAM22_ENST00000315984.7_Missense_Mutation_p.T578M|ADAM22_ENST00000265727.7_Missense_Mutation_p.T578M	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	578	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATTGAAGGGACGGAGAAGGGT	0.433													6	46					0	0	0	0	T	87782587	C	T	87782587	3	4	138	1	0	0	0	0	1	0	0	0	244	536	19	1	1815	1	ADAM22	7	87782587	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	633891	87782587	71356076	65	26040											
OR2AE1	81392	broad.mit.edu	37	chr7	99474426	99474426	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtagccatcttcaggatGattgtggagacatgcatcag	10	12	12	7	0	3	2	2	1	1	1	3	4	3	3	1	3	2	2	1	3	1	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:99474426G>A	ENST00000316368.2	-	1	254	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	77			I -> T (in dbSNP:rs2572023).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCTTCAGGATGATTGTGGAGA	0.483													16	71					0	0	0	0	A	99474426	G	A	99474426	2	1	138	1	0	0	0	0	0	0	0	1	11054	1280	45	2		2	OR2AE1	7	99474426	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	11691839	99474426	59664237	66	26041											
MUC17	140453	broad.mit.edu	37	chr7	100676143	100676143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgttgactccaaaactcaGgtgaccacttctactgaagc	11	10	7	13	0	2	3	1	3	1	0	3	3	3	3	3	1	3	1	3	1	4	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:100676143G>A	ENST00000306151.4	+	3	1510	c.1446G>A	c.(1444-1446)caG>caA	p.Q482Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	482	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAAAACTCAGGTGACCACTT	0.473													60	407					0	0	0	0	A	100676143	G	A	100676143	2	1	138	1	0	0	0	0	0	0	0	1	10044	991	35	4		4	MUC17	7	100676143	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	1201717	100676143	58462520	67	26042											
SYPL1	6856	broad.mit.edu	37	chr7	105752650	105752650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaggttgatctggaagccgGacatcctctgaggaaaggag	11	8	15	7	1	2	3	0	3	2	0	3	7	3	7	2	5	1	1	2	5	2	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:105752650G>A	ENST00000455385.2	-	1	127	c.5C>T	c.(4-6)tCc>tTc	p.S2F	SYPL1_ENST00000470347.1_Missense_Mutation_p.S2F|SYPL1_ENST00000011473.2_Missense_Mutation_p.S20F	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	20					synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						CTGGAAGCCGGACATCCTCTG	0.682													7	53					0	0	0	0	A	105752650	G	A	105752650	3	1	138	1	0	0	0	0	1	0	0	0	15553	1174	41	2	740	2	SYPL1	7	105752650	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	5076507	105752650	53386013	68	26043											
CNOT4	4850	broad.mit.edu	37	chr7	135098284	135098284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcctcatcccccaattcatGaagatacatgcagtcaggtt	11	10	7	13	1	3	2	3	1	0	1	4	2	4	2	3	1	2	2	3	1	3	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:135098284G>A	ENST00000428680.2	-	6	919	c.640C>T	c.(640-642)Cat>Tat	p.H214Y	CNOT4_ENST00000361528.4_Missense_Mutation_p.H214Y|CNOT4_ENST00000423368.2_Missense_Mutation_p.H214Y|CNOT4_ENST00000451834.1_Missense_Mutation_p.H214Y|CNOT4_ENST00000315544.5_Missense_Mutation_p.H214Y|CNOT4_ENST00000414802.1_Missense_Mutation_p.H214Y|CNOT4_ENST00000356162.4_Missense_Mutation_p.H214Y|CNOT4_ENST00000541284.1_Missense_Mutation_p.H214Y	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	214					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CCCAATTCATGAAGATACATG	0.408													12	84					0	0	0	0	A	135098284	G	A	135098284	3	1	138	1	0	0	0	0	1	0	0	0	3651	1290	45	2	1408	2	CNOT4	7	135098284	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	29345634	135098284	24040379	69	26044											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138418934	138418934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accatctggacaattcccagGatcaccgacatcttcatttt	11	12	5	13	1	4	0	2	0	2	0	5	3	5	2	3	2	0	0	3	2	1	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:138418934G>A	ENST00000310018.2	-	16	1920	c.1638C>T	c.(1636-1638)atC>atT	p.I546I	ATP6V0A4_ENST00000353492.4_Silent_p.I546I|ATP6V0A4_ENST00000393054.1_Silent_p.I546I	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	546					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAATTCCCAGGATCACCGACA	0.428													7	49					0	0	0	0	A	138418934	G	A	138418934	2	1	138	1	0	0	0	0	0	0	0	1	1174	1164	41	2		2	ATP6V0A4	7	138418934	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	3320650	138418934	20719729	70	26045											
MTMR7	9108	broad.mit.edu	37	chr8	17157648	17157648	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatgctgttgtctgaggtaGaaaaccctgagtgcttgctg	8	13	12	8	0	1	3	0	2	1	1	1	3	1	3	1	1	4	5	1	1	4	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:17157648G>C	ENST00000180173.5	-	14	1740	c.1706C>G	c.(1705-1707)tCt>tGt	p.S569C	MTMR7_ENST00000398099.3_Missense_Mutation_p.S160C	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	569							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GTCTGAGGTAGAAAACCCTGA	0.438													25	155					0	0	0	0	C	17157648	G	C	17157648	3	2	138	1	0	0	0	0	1	0	0	0	10018	942	33	2	280	2	MTMR7	8	17157648	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08		17157648	129206374	71	26046											
IDO1	3620	broad.mit.edu	37	chr8	39781060	39781060	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaggcgctgttggaaataGcttcttgcttggagaaagcc	11	11	12	7	1	1	1	0	0	1	1	1	3	1	2	1	3	3	4	1	3	5	6			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:39781060G>C	ENST00000518237.1	+	7	1249	c.610G>C	c.(610-612)Gct>Cct	p.A204P	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.A204P	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	204					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GTTGGAAATAGCTTCTTGCTT	0.423													6	45					0	0	0	0	C	39781060	G	C	39781060	3	2	138	1	0	0	0	0	1	0	0	0	7554	971	34	4	636	4	IDO1	8	39781060	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	22623412	39781060	106582962	72	26047											
RB1CC1	9821	broad.mit.edu	37	chr8	53570373	53570373	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctgaacagtcagtggTggaggagttctcggtgaggt	8	10	17	6	1	2	2	1	2	1	0	4	5	3	5	1	6	1	1	1	6	1	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:53570373T>A	ENST00000025008.5	-	15	2539	c.2016A>T	c.(2014-2016)ccA>ccT	p.P672P	RB1CC1_ENST00000539297.1_Silent_p.P672P|RB1CC1_ENST00000435644.2_Silent_p.P672P|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	672					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAGTCAGTGGTGGAGGAGTTC	0.443													10	70					0	0	0	0	A	53570373	T	A	53570373	2	1	138	1	0	0	0	0	0	0	0	1	13181	1683	59	5		5	RB1CC1	8	53570373	Silent	SNP	T	TCGA-CQ-5331-01A-02D-1870-08	13789313	53570373	92793649	73	26048											
C8orf34	116328	broad.mit.edu	37	chr8	69358708	69358708	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatcatgtaaggaagtctCttattcaaatgctattcaaa	16	13	5	7	0	4	0	3	0	1	0	5	1	4	1	0	1	1	2	0	1	7	5			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:69358708C>G	ENST00000523686.1	+	3	411	c.362C>G	c.(361-363)tCt>tGt	p.S121C	C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000348340.2_Intron|C8orf34_ENST00000518698.1_Intron|C8orf34_ENST00000337103.4_Intron			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	448					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AAGGAAGTCTCTTATTCAAAT	0.338													12	57					0	0	0	0	G	69358708	C	G	69358708	3	3	138	1	0	0	0	0	1	0	0	0	2446	928	32	2		2	C8orf34	8	69358708	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	15788335	69358708	77005314	74	26049											
EYA1	2138	broad.mit.edu	37	chr8	72267089	72267089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggggccactgggggattCactactaccactcagacggc	8	9	12	12	1	2	1	2	0	0	1	2	2	2	2	2	5	2	0	2	5	2	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:72267089C>T	ENST00000340726.3	-	3	691	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	EYA1_ENST00000303824.7_Missense_Mutation_p.E18K|EYA1_ENST00000419131.1_Missense_Mutation_p.E18K|EYA1_ENST00000388742.4_Missense_Mutation_p.E18K|EYA1_ENST00000388740.3_Intron|EYA1_ENST00000388743.2_Missense_Mutation_p.E18K|EYA1_ENST00000388741.2_Intron	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	18					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGGGGGATTCACTACTACCA	0.453													29	188					0	0	0	0	T	72267089	C	T	72267089	3	4	138	1	0	0	0	0	1	0	0	0	5366	835	29	2	1790	2	EYA1	8	72267089	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	2908381	72267089	74096933	75	26050											
E2F5	1875	broad.mit.edu	37	chr8	86114424	86114424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaaaaaaggagaatttatGatatcaccaatgtcttagag	17	10	9	5	0	2	3	1	1	1	2	2	4	2	3	1	2	0	1	1	2	8	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:86114424G>A	ENST00000418930.2	+	2	473	c.277G>A	c.(277-279)Gat>Aat	p.D93N	E2F5_ENST00000416274.2_Missense_Mutation_p.D93N|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.D93N|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000517476.1_5'UTR			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	93	Leucine-zipper.				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GAGAATTTATGATATCACCAA	0.383													6	35					0	0	0	0	A	86114424	G	A	86114424	3	1	138	1	0	0	0	0	1	0	0	0	4906	1290	45	2	283	2	E2F5	8	86114424	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	13847335	86114424	60249598	76	26051											
FZD6	8323	broad.mit.edu	37	chr8	104336827	104336827	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattttggtgtccaaggcatCttaagacttctgggggacaa	10	12	12	7	0	2	1	0	0	2	1	3	3	3	2	1	4	0	1	1	4	3	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:104336827C>G	ENST00000358755.4	+	4	810	c.493C>G	c.(493-495)Ctt>Gtt	p.L165V	FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Missense_Mutation_p.L133V|FZD6_ENST00000522566.1_Missense_Mutation_p.L165V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	165					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TCCAAGGCATCTTAAGACTTC	0.428													22	139					0	0	0	0	G	104336827	C	G	104336827	3	3	138	1	0	0	0	0	1	0	0	0	6182	913	32	2	503	2	FZD6	8	104336827	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	18222403	104336827	42027195	77	26052											
HAS2	3037	broad.mit.edu	37	chr8	122626357	122626358	+	Frame_Shift_Ins	INS	-	-	AA																															aacatggaagatcatacatcINSaagcaccatgtcatattgtt																										TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:122626357_122626358insAA	ENST00000303924.4	-	4	2187_2188	c.1650_1651insTT	c.(1648-1653)ctatgtfs	p.C551fs		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	551						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GATCATACATCAAGCACCATGT	0.446													30	98	---	---	---	---					AA	122626358	-	AA	122626357	7	5	138	1	0	1	1	0	0	0	0	0	7012	826	29	0	11	0	HAS2	8	122626357	Frame_Shift_Ins	INS	-	TCGA-CQ-5331-01A-02D-1870-08	18289530	122626357	23737665	78	26053											
TG	7038	broad.mit.edu	37	chr8	133885398	133885398	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcggagggagagtttatGcctgtccagtgcaaatttgt	8	13	13	7	1	1	1	0	0	1	1	2	3	2	2	2	2	3	2	2	2	2	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:133885398G>C	ENST00000220616.4	+	5	610	c.570G>C	c.(568-570)atG>atC	p.M190I	TG_ENST00000377869.1_Missense_Mutation_p.M190I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	190	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGAGTTTATGCCTGTCCAGT	0.502													8	55					0	0	0	0	C	133885398	G	C	133885398	3	2	138	1	0	0	0	0	1	0	0	0	15907	1319	46	4	588	4	TG	8	133885398	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	11259041	133885398	12478624	79	26054											
CDKN2A	1029	broad.mit.edu	37	chr9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacgggcagacggcccCaggcatcgcgcacgtccagc	7	3	14	17	5	0	1	0	0	0	1	3	1	2	1	4	4	1	3	4	4	0	0			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	25					0	0	0	0	T	21971029	C	T	21971029	4	4	138	1	0	0	0	0	0	1	0	0	3190	595	21	4	149	4	CDKN2A	9	21971029	Nonsense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08		21971029	119242402	80	26055											
SPAG8	26206	broad.mit.edu	37	chr9	35810671	35810671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcatctccagcatggcttCacgcttccctgtgagagagt	8	10	11	12	1	2	2	1	1	1	1	4	4	3	2	2	1	2	4	2	1	0	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:35810671C>T	ENST00000340291.2	-	4	1172	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Missense_Mutation_p.E350K|SPAG8_ENST00000484764.1_Missense_Mutation_p.E348K	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	350						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			AGCATGGCTTCACGCTTCCCT	0.527													5	48					0	0	0	0	T	35810671	C	T	35810671	3	4	138	1	0	0	0	0	1	0	0	0	15074	835	29	2	676	2	SPAG8	9	35810671	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	13839642	35810671	105402760	81	26056											
PRUNE2	158471	broad.mit.edu	37	chr9	79318700	79318700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaagacattttctctgcaGagagaccttttctttcattt	10	17	6	8	0	3	4	1	0	2	4	4	5	3	4	1	0	1	1	1	0	2	7			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:79318700G>A	ENST00000428286.1	-	9	7952	c.6752C>T	c.(6751-6753)tCt>tTt	p.S2251F	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2610F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2610					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTCTCTGCAGAGAGACCTTT	0.453													13	90					0	0	0	0	A	79318700	G	A	79318700	3	1	138	1	0	0	0	0	1	0	0	0	12720	942	33	2	1481	2	PRUNE2	9	79318700	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	43508029	79318700	61894731	82	26057											
EDF1	8721	broad.mit.edu	37	chr9	139757370	139757370	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acactcaccaatggcccgctCgattttgccaagcacctggt	9	9	8	15	2	1	0	1	0	0	0	2	1	1	0	4	2	2	2	4	2	2	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:139757370C>G	ENST00000371648.4	-	4	380	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	EDF1_ENST00000224073.1_Missense_Mutation_p.E125Q|EDF1_ENST00000371649.1_Missense_Mutation_p.E125Q	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	125	HTH cro/C1-type.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ATGGCCCGCTCGATTTTGCCA	0.582													12	83					0	0	0	0	G	139757370	C	G	139757370	3	3	138	1	0	0	0	0	1	0	0	0	4950	893	31	3	116	3	EDF1	9	139757370	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	60438670	139757370	1456061	83	26058											
KLF6	1316	broad.mit.edu	37	chr10	3823969	3823969	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgtcacctggcttcccCgaagtcccgctgcgcacctt	4	10	8	19	3	1	0	1	0	0	0	3	1	3	0	6	1	1	3	6	1	1	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:3823969C>G	ENST00000497571.1	-	2	800	c.540G>C	c.(538-540)tcG>tcC	p.S180S	KLF6_ENST00000542957.1_Silent_p.S180S|KLF6_ENST00000173785.4_Intron|KLF6_ENST00000469435.1_Silent_p.S180S	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	180			S -> L (found in gastric cancer samples; somatic mutation).		B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CTGGCTTCCCCGAAGTCCCGC	0.627											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	79					0	0	0	0	G	3823969	C	G	3823969	2	3	138	1	0	0	0	0	0	0	0	1	8402	639	23	3		3	KLF6	10	3823969	Silent	SNP	C	TCGA-CQ-5331-01A-02D-1870-08		3823969	131710778	84	26059											
SUPV3L1	6832	broad.mit.edu	37	chr10	70940261	70940261	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcccctgactgtgaaacctCagggccccagcgccgacggc	7	5	12	17	3	1	2	1	2	0	0	1	3	1	2	6	2	3	0	6	2	1	0			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:70940261C>T	ENST00000359655.4	+	1	274	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	72					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTGAAACCTCAGGGCCCCAG	0.637													24	108					0	0	0	0	T	70940261	C	T	70940261	4	4	138	1	0	0	0	0	0	1	0	0	15492	827	29	2	216	2	SUPV3L1	10	70940261	Nonsense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	67116292	70940261	64594486	85	26060											
WDR11	55717	broad.mit.edu	37	chr10	122619653	122619653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaatcaagatgcttccCgcgatttactgcttgctatc	8	14	9	10	2	1	1	1	0	0	1	3	3	2	2	1	1	4	3	1	1	4	5			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:122619653C>T	ENST00000263461.6	+	4	631	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	129						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AGATGCTTCCCGCGATTTACT	0.448													26	89					0	0	0	0	T	122619653	C	T	122619653	3	4	138	1	0	0	0	0	1	0	0	0	17369	652	23	1	399	1	WDR11	10	122619653	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	51679392	122619653	12915094	86	26061											
DPYSL4	10570	broad.mit.edu	37	chr10	134008424	134008424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagcgggcggacagcgCggcctgctgcgactactccc	5	4	17	15	6	0	0	0	0	0	0	1	3	1	2	2	4	5	1	2	4	1	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:134008424C>T	ENST00000338492.4	+	4	553	c.389C>T	c.(388-390)gCg>gTg	p.A130V	DPYSL4_ENST00000368627.1_Missense_Mutation_p.A53V|DPYSL4_ENST00000368629.1_Missense_Mutation_p.A53V|DPYSL4_ENST00000493882.1_3'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	130					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCGGACAGCGCGGCCTGCTGC	0.662													13	81					0	0	0	0	T	134008424	C	T	134008424	3	4	138	1	0	0	0	0	1	0	0	0	4785	768	27	1	403	1	DPYSL4	10	134008424	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	11388771	134008424	1526323	87	26062											
MRGPRE	116534	broad.mit.edu	37	chr11	3249416	3249416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggggccgctgggggcctCgctccacccgcagcagcagc	4	4	17	16	3	0	0	0	0	0	0	2	0	1	0	4	4	3	5	4	4	0	0			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:3249416C>T	ENST00000389832.5	-	2	920	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.R204Q			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	204						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGGGGCCTCGCTCCACCCG	0.682													3	8					0	0	0	0	T	3249416	C	T	3249416	3	4	138	1	0	0	0	0	1	0	0	0	9834	884	31	1	328	1	MRGPRE	11	3249416	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08		3249416	131757100	88	26063											
IPO7	10527	broad.mit.edu	37	chr11	9456494	9456494	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatacagatatgatgcccctCcttcataattatgtaacagt	14	13	5	9	0	1	2	1	1	0	1	2	2	2	2	3	0	3	1	3	0	6	6			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:9456494C>T	ENST00000379719.3	+	19	2230	c.2088C>T	c.(2086-2088)ctC>ctT	p.L696L		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	696					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGATGCCCCTCCTTCATAATT	0.313													9	81					0	0	0	0	T	9456494	C	T	9456494	2	4	138	1	0	0	0	0	0	0	0	1	7850	842	30	2		2	IPO7	11	9456494	Silent	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	6207078	9456494	125550022	89	26064											
TP53I11	9537	broad.mit.edu	37	chr11	44956498	44956498	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgctgatgacgacaaaaagGaggcggctgaccaggagcag	14	4	15	8	2	0	3	0	3	0	0	0	6	0	5	1	4	2	3	1	4	2	0			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:44956498G>T	ENST00000533940.1	-	10	1111	c.507C>A	c.(505-507)ctC>ctA	p.L169L	TP53I11_ENST00000525680.1_Silent_p.L169L|TP53I11_ENST00000395648.3_Silent_p.L169L|TP53I11_ENST00000308212.5_Silent_p.L169L	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	169					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						CGACAAAAAGGAGGCGGCTGA	0.617													19	137					7.92952e-12	8.89962e-12	1	0	T	44956498	G	T	44956498	2	4	138	1	0	0	0	0	0	0	0	1	16480	1161	41	2		2	TP53I11	11	44956498	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	35500004	44956498	90050018	90	26065											
ZBTB3	79842	broad.mit.edu	37	chr11	62520951	62520951	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgtgaatacacaccagAtccctcttgtccaattcccg	10	12	5	14	1	2	2	1	1	1	1	5	2	5	2	4	0	1	0	4	0	3	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:62520951A>T	ENST00000394807.3	-	2	461	c.336T>A	c.(334-336)gaT>gaA	p.D112E		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	112	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TACACACCAGATCCCTCTTGT	0.547													16	71					0	0	0	0	T	62520951	A	T	62520951	3	4	138	1	0	0	0	0	1	0	0	0	17629	330	12	5	1392	5	ZBTB3	11	62520951	Missense_Mutation	SNP	A	TCGA-CQ-5331-01A-02D-1870-08	17564453	62520951	72485565	91	26066											
CDCA5	113130	broad.mit.edu	37	chr11	64846603	64846603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaccaggagatcaaactgCtcagcagcttcaaactcggc	13	7	8	13	1	4	1	4	0	0	1	5	2	4	1	1	2	6	3	1	2	3	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:64846603C>G	ENST00000275517.3	-	6	907	c.735G>C	c.(733-735)gaG>gaC	p.E245D	CDCA5_ENST00000404147.3_Missense_Mutation_p.E300D	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	245					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GATCAAACTGCTCAGCAGCTT	0.552													4	34					0	0	0	0	G	64846603	C	G	64846603	3	3	138	1	0	0	0	0	1	0	0	0	3118	796	28	4	27	4	CDCA5	11	64846603	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	2325652	64846603	70159913	92	26067											
RSF1	51773	broad.mit.edu	37	chr11	77412091	77412091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgatgccctctttctgcCtttcagaggttatctctgta	6	18	7	10	0	4	2	1	1	3	1	5	2	4	2	2	1	2	2	2	1	2	5			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:77412091C>A	ENST00000308488.6	-	6	2485	c.2183G>T	c.(2182-2184)aGg>aTg	p.R728M	RSF1_ENST00000480887.1_Missense_Mutation_p.R476M|RSF1_ENST00000360355.2_Missense_Mutation_p.R697M			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	728					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCTTTCTGCCTTTCAGAGGT	0.398													27	157					7.07758e-08	7.6583e-08	1	0	A	77412091	C	A	77412091	3	1	138	1	0	0	0	0	1	0	0	0	13784	681	24	4	2186	4	RSF1	11	77412091	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	12565488	77412091	57594425	93	26068											
SYTL2	54843	broad.mit.edu	37	chr11	85435915	85435915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctaagccagcactgaattCgaggaactctgatttgggtt	10	13	10	8	1	2	2	0	2	2	0	3	4	2	3	1	2	3	2	1	2	3	5	rs116798528	by1000genomes	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:85435915C>T	ENST00000359152.5	-	1	3156	c.3157G>A	c.(3157-3159)Gaa>Aaa	p.E1053K	SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.E529K|SYTL2_ENST00000354566.3_Missense_Mutation_p.E529K|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	449					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCACTGAATTCGAGGAACTCT	0.403													16	129					0	0	0	0	T	85435915	C	T	85435915	3	4	138	1	0	0	0	0	1	0	0	0	15574	893	31	1	2285	1	SYTL2	11	85435915	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	8023824	85435915	49570601	94	26069											
USP28	57646	broad.mit.edu	37	chr11	113670017	113670017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccatgacagctgcaaatCggctacataggtcataggga	13	8	10	10	1	1	1	1	1	0	0	3	2	2	2	1	3	3	3	1	3	4	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:113670017C>A	ENST00000003302.4	-	25	3247	c.3179G>T	c.(3178-3180)cGa>cTa	p.R1060L	USP28_ENST00000545540.1_Missense_Mutation_p.R903L|USP28_ENST00000544967.1_Missense_Mutation_p.R736L|USP28_ENST00000260188.5_Missense_Mutation_p.R1028L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	1060					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGCTGCAAATCGGCTACATAG	0.483													27	137					7.38237e-10	8.19831e-10	1	0	A	113670017	C	A	113670017	3	1	138	1	0	0	0	0	1	0	0	0	17154	884	31	3	58	3	USP28	11	113670017	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	28234102	113670017	21336499	95	26070											
RIMKLB	57494	broad.mit.edu	37	chr12	8926332	8926332	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctcccagggggcctgttCaacatgaaccagctgctagc	10	7	11	13	0	1	1	1	1	0	0	2	1	2	1	3	2	6	4	3	2	4	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:8926332C>G	ENST00000357529.3	+	7	2375	c.1113C>G	c.(1111-1113)ttC>ttG	p.F371L	RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000538135.1_Missense_Mutation_p.F371L|RIMKLB_ENST00000535829.1_Missense_Mutation_p.F371L	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	371					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GGGGCCTGTTCAACATGAACC	0.483													18	128					0	0	0	0	G	8926332	C	G	8926332	3	3	138	1	0	0	0	0	1	0	0	0	13451	825	29	2	1131	2	RIMKLB	12	8926332	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08		8926332	124925563	96	26071											
EPS8	2059	broad.mit.edu	37	chr12	15784565	15784565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatggagcagggggagtatCagctggtcttgggccatact	8	10	16	7	0	2	1	1	1	1	0	2	3	2	3	1	5	3	3	1	5	2	3	rs145919374		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:15784565C>T	ENST00000281172.5	-	18	2291	c.1855G>A	c.(1855-1857)Gat>Aat	p.D619N	EPS8_ENST00000540613.1_Missense_Mutation_p.D359N|EPS8_ENST00000542903.1_Missense_Mutation_p.D359N|EPS8_ENST00000543523.1_Missense_Mutation_p.D619N|EPS8_ENST00000543612.1_Missense_Mutation_p.D619N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	619	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GGGGGAGTATCAGCTGGTCTT	0.438													7	67					0	0	0	0	T	15784565	C	T	15784565	3	4	138	1	0	0	0	0	1	0	0	0	5232	826	29	2	629	2	EPS8	12	15784565	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	6858233	15784565	118067330	97	26072											
STK38L	23012	broad.mit.edu	37	chr12	27461352	27461352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagacttggcttggatgaCtttgagtctctgaaagttat	10	14	10	7	0	1	4	0	3	1	1	2	5	1	5	1	2	0	2	1	2	2	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:27461352C>G	ENST00000389032.3	+	4	436	c.267C>G	c.(265-267)gaC>gaG	p.D89E	STK38L_ENST00000539577.1_Intron	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	89					intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					GCTTGGATGACTTTGAGTCTC	0.353													33	133					0	0	0	0	G	27461352	C	G	27461352	3	3	138	1	0	0	0	0	1	0	0	0	15394	564	20	4	277	4	STK38L	12	27461352	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	11676787	27461352	106390543	98	26073											
BICD1	636	broad.mit.edu	37	chr12	32369283	32369283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcgaaggaggcttactatCtggggaagatcttggagatg	11	10	14	6	1	2	2	0	0	2	2	3	6	2	4	0	5	1	1	0	5	4	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:32369283C>G	ENST00000548411.1	+	2	497	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V	BICD1_ENST00000281474.5_Missense_Mutation_p.L106V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	106					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	p.L106V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGCTTACTATCTGGGGAAGAT	0.542													14	69					0	0	0	0	G	32369283	C	G	32369283	3	3	138	1	0	0	0	0	1	0	0	0	1433	912	32	2	322	2	BICD1	12	32369283	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	4907931	32369283	101482612	99	26074											
ASB8	140461	broad.mit.edu	37	chr12	48545077	48545077	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtgccatgagtgcagttCacatctgctccctgtgggca	7	11	12	11	0	2	1	1	1	1	0	3	1	3	1	2	1	3	4	2	1	0	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:48545077C>G	ENST00000317697.3	-	3	310	c.141G>C	c.(139-141)gtG>gtC	p.V47V	ASB8_ENST00000537754.1_Intron|ASB8_ENST00000535988.1_Silent_p.V47V|ASB8_ENST00000536953.1_Silent_p.V47V|ASB8_ENST00000535055.1_Silent_p.V47V|ASB8_ENST00000540782.1_Silent_p.V47V|ASB8_ENST00000539528.1_Silent_p.V47V|ASB8_ENST00000536549.1_Silent_p.V47V|ASB8_ENST00000536071.1_Silent_p.V47V	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	47					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GAGTGCAGTTCACATCTGCTC	0.522													12	46					0	0	0	0	G	48545077	C	G	48545077	2	3	138	1	0	0	0	0	0	0	0	1	1033	813	29	2		2	ASB8	12	48545077	Silent	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	16175794	48545077	85306818	100	26075											
TROAP	10024	broad.mit.edu	37	chr12	49724994	49724994	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctaaattttccatgcccctCaggcctcagcaatctggccc	8	11	6	16	0	4	0	2	0	2	0	5	0	5	0	5	2	2	1	5	2	3	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:49724994C>G	ENST00000551245.1	+	13	2477	c.2366C>G	c.(2365-2367)tCa>tGa	p.S789*	TROAP_ENST00000547923.1_Intron|TROAP_ENST00000257909.3_Intron			Q12815	TROAP_HUMAN	trophinin associated protein	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCATGCCCCTCAGGCCTCAGC	0.577													4	51					0	0	0	0	G	49724994	C	G	49724994	4	3	138	1	0	0	0	0	0	1	0	0	16670	841	29	2		2	TROAP	12	49724994	Nonsense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	1179917	49724994	84126901	101	26076											
KRT74	121391	broad.mit.edu	37	chr12	52962128	52962128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatccttcagggcattgtCtccccgctgctcagcgtcag	5	10	11	15	2	4	0	3	0	1	0	6	0	5	0	3	2	2	4	3	2	0	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:52962128C>G	ENST00000549343.1	-	8	1260	c.1222G>C	c.(1222-1224)Gac>Cac	p.D408H	KRT74_ENST00000305620.2_Missense_Mutation_p.D394H			Q7RTS7	K2C74_HUMAN	keratin 74	394	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		AGGGCATTGTCTCCCCGCTGC	0.597													10	62					0	0	0	0	G	52962128	C	G	52962128	3	3	138	1	0	0	0	0	1	0	0	0	8539	913	32	2	421	2	KRT74	12	52962128	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	3237134	52962128	80889767	102	26077											
GNPTAB	79158	broad.mit.edu	37	chr12	102153834	102153834	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatcatagtaggattcctGagttggtggaatattattta	11	15	12	3	0	1	1	1	1	0	0	2	4	2	4	1	4	0	2	1	4	6	8			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:102153834G>A	ENST00000299314.7	-	16	3485	c.3223C>T	c.(3223-3225)Cag>Tag	p.Q1075*		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1075					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	p.Q1075*(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TAGGATTCCTGAGTTGGTGGA	0.368													13	89					0	0	0	0	A	102153834	G	A	102153834	4	1	138	1	0	0	0	0	0	1	0	0	6596	1299	45	2	571	2	GNPTAB	12	102153834	Nonsense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	49191706	102153834	31698061	103	26078											
PDS5B	23047	broad.mit.edu	37	chr13	33344579	33344579	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacttctaaaaaaggaagCaaaaaaaaatctggacctcc	22	6	5	8	0	2	0	0	0	2	0	3	2	3	2	2	2	2	1	2	2	10	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:33344579C>G	ENST00000315596.10	+	32	4131	c.3945C>G	c.(3943-3945)agC>agG	p.S1315R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1315					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAAGGAAGCAAAAAAAAAT	0.438													4	34					0	0	0	0	G	33344579	C	G	33344579	3	3	138	1	0	0	0	0	1	0	0	0	11763	709	25	4	4067	4	PDS5B	13	33344579	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08		33344579	81825299	104	26079											
FAM124A	220108	broad.mit.edu	37	chr13	51854623	51854623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagtttcctaaacctggcaGagtacatcatgcctccgaga	12	9	9	11	1	1	2	1	0	0	2	3	4	3	2	4	1	3	3	4	1	4	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:51854623G>C	ENST00000322475.8	+	4	1007	c.872G>C	c.(871-873)aGa>aCa	p.R291T	FAM124A_ENST00000280057.6_Missense_Mutation_p.R327T	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	291										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AAACCTGGCAGAGTACATCAT	0.517													8	46					0	0	0	0	C	51854623	G	C	51854623	3	2	138	1	0	0	0	0	1	0	0	0	5466	942	33	2	998	2	FAM124A	13	51854623	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	18510044	51854623	63315255	105	26080											
ING1	3621	broad.mit.edu	37	chr13	111372242	111372242	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccatggacaaagcccTggagaaatccaaaaaagaga	20	3	10	8	0	0	3	0	0	0	3	1	7	1	4	3	2	1	0	3	2	6	0			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:111372242T>G	ENST00000375774.3	+	2	1694	c.1232T>G	c.(1231-1233)cTg>cGg	p.L411R	ING1_ENST00000333219.7_Missense_Mutation_p.L268R|ING1_ENST00000375775.3_Missense_Mutation_p.L199R|ING1_ENST00000338450.7_Missense_Mutation_p.L224R	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	411					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GACAAAGCCCTGGAGAAATCC	0.507													8	26					0	0	0	0	G	111372242	T	G	111372242	3	3	138	1	0	0	0	0	1	0	0	0	7788	1580	55	5	1386	5	ING1	13	111372242	Missense_Mutation	SNP	T	TCGA-CQ-5331-01A-02D-1870-08	59517619	111372242	3797636	106	26081											
ATP11A	23250	broad.mit.edu	37	chr13	113478732	113478732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctcagaagcgatctgccGtggaaaagtaaggctggatg	13	8	13	7	2	2	1	1	0	2	1	3	4	2	3	1	3	2	2	1	3	5	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:113478732G>A	ENST00000487903.1	+	10	953	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	ATP11A_ENST00000283558.8_Missense_Mutation_p.V289M|ATP11A_ENST00000375645.3_Missense_Mutation_p.V289M|ATP11A_ENST00000375630.2_Missense_Mutation_p.V289M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	289					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GCGATCTGCCGTGGAAAAGTA	0.443													13	85					0	0	0	0	A	113478732	G	A	113478732	3	1	138	1	0	0	0	0	1	0	0	0	1123	1145	40	1	903	1	ATP11A	13	113478732	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	2106490	113478732	1691146	107	26082											
MMP14	4323	broad.mit.edu	37	chr14	23313957	23313957	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctctcttctggatgccCaatggaaagacctacttctt	8	13	8	12	0	3	1	0	0	3	1	4	3	3	3	2	2	3	2	2	2	3	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:23313957C>T	ENST00000311852.6	+	8	1530	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	423	Hemopexin-like 3.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.W421_G425>*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TCTGGATGCCCAATGGAAAGA	0.547													18	137					0	0	0	0	T	23313957	C	T	23313957	2	4	138	1	0	0	0	0	0	0	0	1	9722	581	21	4		4	MMP14	14	23313957	Silent	SNP	C	TCGA-CQ-5331-01A-02D-1870-08		23313957	84035583	108	26083											
DAAM1	23002	broad.mit.edu	37	chr14	59820601	59820601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgctcttacagaattaatCactatcagcaaaggttgcaa	14	13	6	8	0	3	1	2	0	1	1	3	1	3	1	0	1	4	4	0	1	6	5			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:59820601C>T	ENST00000395125.1	+	19	2328	c.2305C>T	c.(2305-2307)Cac>Tac	p.H769Y	DAAM1_ENST00000351081.1_Missense_Mutation_p.H769Y|DAAM1_ENST00000360909.3_Missense_Mutation_p.H759Y|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	769	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAGAATTAATCACTATCAGCA	0.378													3	25					0	0	0	0	T	59820601	C	T	59820601	3	4	138	1	0	0	0	0	1	0	0	0	4248	826	29	2	2379	2	DAAM1	14	59820601	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	36506644	59820601	47528939	109	26084											
RPS6KL1	83694	broad.mit.edu	37	chr14	75376489	75376489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaacccaagtgagcccccGagggggcccagcgtctgagt	9	4	15	13	2	1	2	0	2	1	0	1	4	1	3	4	3	3	0	4	3	2	0			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:75376489G>A	ENST00000555647.1	-	8	1314	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R343W|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R312W|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R343W			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	343	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GTGAGCCCCCGAGGGGGCCCA	0.697													7	36					0	0	0	0	A	75376489	G	A	75376489	3	1	138	1	0	0	0	0	1	0	0	0	13744	1057	37	1	715	1	RPS6KL1	14	75376489	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	15555888	75376489	31973051	110	26085											
NRXN3	9369	broad.mit.edu	37	chr14	80158584	80158584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaatataatcggcctgtaGaggagtggctgcaggaaaaa	15	8	12	6	1	1	1	1	0	0	1	2	3	1	3	1	4	1	3	1	4	6	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:80158584G>A	ENST00000428277.2	+	4	1056	c.670G>A	c.(670-672)Gag>Aag	p.E224K	NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000281127.7_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000557594.1_Intron|NRXN3_ENST00000335750.5_Intron	NM_001105250.1	NP_001098720.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	200	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)		TCGGCCTGTAGAGGAGTGGCT	0.338													6	47					0	0	0	0	A	80158584	G	A	80158584	3	1	138	1	0	0	0	0	1	0	0	0	10738	943	33	2	2867	2	NRXN3	14	80158584	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	4782095	80158584	27190956	111	26086											
RPS6KA5	9252	broad.mit.edu	37	chr14	91389537	91389537	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaaaggaatatgctctttCagtcttgaacaaacaaacaa	19	9	5	8	0	3	1	1	1	2	0	3	2	3	2	0	1	4	1	0	1	8	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:91389537C>G	ENST00000261991.3	-	6	795	c.622G>C	c.(622-624)Gaa>Caa	p.E208Q	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.E129Q|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.E208Q	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	208	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TATGCTCTTTCAGTCTTGAAC	0.353													6	37					0	0	0	0	G	91389537	C	G	91389537	3	3	138	1	0	0	0	0	1	0	0	0	13739	835	29	2	1840	2	RPS6KA5	14	91389537	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	11230953	91389537	15960003	112	26087											
BEGAIN	57596	broad.mit.edu	37	chr14	101012923	101012923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggcgcgtggagtcgaactCggtctcgagcttctcgagct	5	10	15	11	6	2	0	0	0	2	0	6	4	2	1	0	3	3	2	0	3	1	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:101012923C>T	ENST00000443071.2	-	2	236	c.91G>A	c.(91-93)Gag>Aag	p.E31K	BEGAIN_ENST00000554747.1_5'UTR|BEGAIN_ENST00000355173.2_Missense_Mutation_p.E31K|BEGAIN_ENST00000556751.1_5'UTR	NM_001159531.1	NP_001153003.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	31						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GAGTCGAACTCGGTCTCGAGC	0.677													9	51					0	0	0	0	T	101012923	C	T	101012923	3	4	138	1	0	0	0	0	1	0	0	0	1401	893	31	1	1710	1	BEGAIN	14	101012923	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	9623386	101012923	6336617	113	26088											
DISP2	85455	broad.mit.edu	37	chr15	40661167	40661167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggttcactagccgtctaGagctgtatagcctgcagcac	8	11	11	11	1	2	1	1	0	1	1	2	1	2	1	2	1	5	6	2	1	4	6			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:40661167G>A	ENST00000267889.3	+	8	2941	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	952					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TAGCCGTCTAGAGCTGTATAG	0.632													19	103					0	0	0	0	A	40661167	G	A	40661167	3	1	138	1	0	0	0	0	1	0	0	0	4577	943	33	2	2884	2	DISP2	15	40661167	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08		40661167	61870225	114	26089											
SPINT1	6692	broad.mit.edu	37	chr15	41145359	41145359	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgggcaggcatagacttGaaggtacaaccccaggaacc	12	5	12	12	0	0	2	0	1	0	1	0	3	0	3	4	4	3	3	4	4	5	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:41145359G>C	ENST00000344051.4	+	3	747	c.513G>C	c.(511-513)ttG>ttC	p.L171F	SPINT1_ENST00000431806.1_Missense_Mutation_p.L171F|SPINT1_ENST00000562057.1_Missense_Mutation_p.L171F			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	171						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCATAGACTTGAAGGTACAAC	0.557													25	150					0	0	0	0	C	41145359	G	C	41145359	3	2	138	1	0	0	0	0	1	0	0	0	15158	1281	45	2	519	2	SPINT1	15	41145359	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	484192	41145359	61386033	115	26090											
UBR1	197131	broad.mit.edu	37	chr15	43351984	43351984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatctctgagtgtaatacttCtacatgaagtggatgttgag	12	14	10	5	0	2	3	0	3	2	0	3	4	2	4	0	1	2	2	0	1	5	5			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:43351984C>G	ENST00000290650.4	-	8	979	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q	UBR1_ENST00000382177.2_Missense_Mutation_p.E301Q	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	301					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGTAATACTTCTACATGAAGT	0.353													8	49					0	0	0	0	G	43351984	C	G	43351984	3	3	138	1	0	0	0	0	1	0	0	0	16997	922	32	2	4508	2	UBR1	15	43351984	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	2206625	43351984	59179408	116	26091											
LCMT2	9836	broad.mit.edu	37	chr15	43622444	43622444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagagacaagatctgcgcgcGaagcgcggcctggggcgcgc	8	3	18	12	7	1	2	0	0	1	2	1	5	1	2	1	3	2	0	1	3	2	0			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:43622444G>A	ENST00000305641.5	-	1	359	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	82					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	ATCTGCGCGCGAAGCGCGGCC	0.652													5	48					0	0	0	0	A	43622444	G	A	43622444	3	1	138	1	0	0	0	0	1	0	0	0	8732	1058	37	1	1820	1	LCMT2	15	43622444	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	270460	43622444	58908948	117	26092											
MAP1A	4130	broad.mit.edu	37	chr15	43814803	43814803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagaagcctgccaagcctGagagggtgaagacagagtca	14	4	14	9	0	1	5	1	2	0	4	1	7	1	5	3	1	3	0	3	1	3	0			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:43814803G>A	ENST00000382031.1	+	5	1877	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	MAP1A_ENST00000300231.5_Missense_Mutation_p.E378K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E378K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	378						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGCCAAGCCTGAGAGGGTGAA	0.493													4	29					0	0	0	0	A	43814803	G	A	43814803	3	1	138	1	0	0	0	0	1	0	0	0	9296	1291	45	2	1134	2	MAP1A	15	43814803	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	192359	43814803	58716589	118	26093											
SLC12A1	6557	broad.mit.edu	37	chr15	48500096	48500096	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcagaaaagactcagaatCagctttaggcctgggaatca	14	8	10	9	0	4	3	4	0	0	3	4	4	4	4	1	2	1	2	1	2	5	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:48500096C>T	ENST00000396577.3	+	2	395	c.180C>T	c.(178-180)atC>atT	p.I60I	SLC12A1_ENST00000561031.1_Silent_p.I60I|SLC12A1_ENST00000330289.6_Silent_p.I60I|SLC12A1_ENST00000380993.3_Silent_p.I60I|SLC12A1_ENST00000558405.1_Silent_p.I60I	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	60					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GACTCAGAATCAGCTTTAGGC	0.438													9	62					0	0	0	0	T	48500096	C	T	48500096	2	4	138	1	0	0	0	0	0	0	0	1	14470	816	29	2		2	SLC12A1	15	48500096	Silent	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	4685293	48500096	54031296	119	26094											
SLC27A2	11001	broad.mit.edu	37	chr15	50519205	50519205	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacttctggtttgcaaaatCacacaacttacaccatttaa	14	12	5	10	0	2	0	1	0	1	0	2	1	2	1	1	2	3	2	1	2	5	5			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:50519205C>T	ENST00000267842.5	+	7	1519	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	SLC27A2_ENST00000380902.4_Silent_p.I376I|SLC27A2_ENST00000544960.1_Silent_p.I194I	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	429					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TTTGCAAAATCACACAACTTA	0.358													5	43					0	0	0	0	T	50519205	C	T	50519205	2	4	138	1	0	0	0	0	0	0	0	1	14614	816	29	2		2	SLC27A2	15	50519205	Silent	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	2019109	50519205	52012187	120	26095											
CPEB1	64506	broad.mit.edu	37	chr15	83215266	83215266	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttctaggtaggggtcaatCtgaacctgcacaaaggcaaa	13	9	10	9	0	4	1	1	1	3	0	4	1	4	1	1	4	2	3	1	4	6	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:83215266C>G	ENST00000563800.1	-	11	3306	c.1581G>C	c.(1579-1581)caG>caC	p.Q527H	CPEB1_ENST00000564522.1_Missense_Mutation_p.Q425H|CPEB1_ENST00000562019.1_Missense_Mutation_p.Q505H|CPEB1_ENST00000398591.2_Missense_Mutation_p.Q430H|CPEB1_ENST00000398592.2_Missense_Mutation_p.Q274H|CPEB1_ENST00000450751.2_Missense_Mutation_p.Q425H|CPEB1_ENST00000261723.6_Missense_Mutation_p.Q503H|CPEB1_ENST00000568757.1_Missense_Mutation_p.Q425H|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.Q500H|CPEB1_ENST00000423133.2_Missense_Mutation_p.Q425H|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R235T			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	505	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AGGGGTCAATCTGAACCTGCA	0.483													8	74					0	0	0	0	G	83215266	C	G	83215266	3	3	138	1	0	0	0	0	1	0	0	0	3830	912	32	2	193	2	CPEB1	15	83215266	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	32696061	83215266	19316126	121	26096											
IQGAP1	8826	broad.mit.edu	37	chr15	90934036	90934036	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgaaagacttactgcagAggagatggatgaaaggagac	17	7	13	4	0	0	6	0	2	0	4	0	9	0	7	0	3	2	1	0	3	4	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:90934036A>T	ENST00000268182.5	+	2	210	c.86A>T	c.(85-87)gAg>gTg	p.E29V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.E29V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	29					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTTACTGCAGAGGAGATGGAT	0.423													10	103					0	0	0	0	T	90934036	A	T	90934036	3	4	138	1	0	0	0	0	1	0	0	0	7867	304	11	5	92	5	IQGAP1	15	90934036	Missense_Mutation	SNP	A	TCGA-CQ-5331-01A-02D-1870-08	7718770	90934036	11597356	122	26097											
STUB1	10273	broad.mit.edu	37	chr16	731286	731286	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtctgtgaaggcgcacttCttcctggggcagtgccagct	6	10	13	12	1	2	1	0	1	2	0	3	1	3	1	2	3	2	3	2	3	1	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:731286C>T	ENST00000565677.1	+	2	685	c.78C>T	c.(76-78)ttC>ttT	p.F26F	STUB1_ENST00000566181.2_3'UTR|STUB1_ENST00000219548.4_Silent_p.F98F|STUB1_ENST00000564370.1_Silent_p.F26F			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	98					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				AGGCGCACTTCTTCCTGGGGC	0.652													3	27					0	0	0	0	T	731286	C	T	731286	2	4	138	1	0	0	0	0	0	0	0	1	15425	912	32	2		2	STUB1	16	731286	Silent	SNP	C	TCGA-CQ-5331-01A-02D-1870-08		731286	89623467	123	26098											
ZC3H7A	29066	broad.mit.edu	37	chr16	11862205	11862205	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatctggcaagcttgtctCaattcatgggttccttcgag	8	13	10	10	1	3	1	2	0	2	1	6	2	4	1	1	2	1	3	1	2	2	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:11862205C>G	ENST00000396516.2	-	11	1523	c.1326G>C	c.(1324-1326)ttG>ttC	p.L442F	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.L442F			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	442						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AAGCTTGTCTCAATTCATGGG	0.413													38	181					0	0	0	0	G	11862205	C	G	11862205	3	3	138	1	0	0	0	0	1	0	0	0	17667	825	29	2	1637	2	ZC3H7A	16	11862205	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	11130919	11862205	78492548	124	26099											
DCUN1D3	123879	broad.mit.edu	37	chr16	20871316	20871316	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactccacaaaggtgtcaaaGagacttggccaggcctcatc	12	7	9	13	0	2	1	2	0	0	1	4	2	3	1	3	3	0	0	3	3	2	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:20871316G>C	ENST00000324344.3	-	3	1092	c.807C>G	c.(805-807)ctC>ctG	p.L269L	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Silent_p.L269L	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	269	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AGGTGTCAAAGAGACTTGGCC	0.552													7	39					0	0	0	0	C	20871316	G	C	20871316	2	2	138	1	0	0	0	0	0	0	0	1	4347	929	33	2		2	DCUN1D3	16	20871316	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	9009111	20871316	69483437	125	26100											
USP31	57478	broad.mit.edu	37	chr16	23116891	23116891	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatacactacagtgacataGagaggcctgtacagatcaaa	16	8	9	8	0	1	4	1	2	0	2	1	5	1	4	1	1	3	1	1	1	5	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:23116891G>A	ENST00000219689.7	-	5	959	c.960C>T	c.(958-960)ctC>ctT	p.L320L		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	320					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CAGTGACATAGAGAGGCCTGT	0.418													11	52					0	0	0	0	A	23116891	G	A	23116891	2	1	138	1	0	0	0	0	0	0	0	1	17158	929	33	2		2	USP31	16	23116891	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	2245575	23116891	67237862	126	26101											
TNRC6A	27327	broad.mit.edu	37	chr16	24800705	24800705	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagcccctggcagtgatccgGagttggcttcagaatgtatg	8	10	13	10	1	1	2	1	1	0	1	2	3	2	3	3	3	1	4	3	3	2	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:24800705G>C	ENST00000395799.3	+	6	871	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	TNRC6A_ENST00000315183.7_Missense_Mutation_p.E248Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	248	Ser-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAGTGATCCGGAGTTGGCTTC	0.458													10	122					0	0	0	0	C	24800705	G	C	24800705	3	2	138	1	0	0	0	0	1	0	0	0	16434	1175	41	2	764	2	TNRC6A	16	24800705	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	1683814	24800705	65554048	127	26102											
CCDC135	84229	broad.mit.edu	37	chr16	57741450	57741450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtgctatcggggaagcgcGaggtgcctgagaacttcttc	7	11	14	9	3	1	1	0	1	1	1	3	4	1	2	1	3	4	1	1	3	3	4	rs116219187	by1000genomes	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:57741450G>A	ENST00000360716.3	+	8	1158	c.937G>A	c.(937-939)Gag>Aag	p.E313K	CCDC135_ENST00000336825.8_Missense_Mutation_p.E248K|CCDC135_ENST00000394337.4_Missense_Mutation_p.E313K			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	313						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGGGAAGCGCGAGGTGCCTGA	0.587													10	52					0	0	0	0	A	57741450	G	A	57741450	3	1	138	1	0	0	0	0	1	0	0	0	2794	1059	37	1	959	1	CCDC135	16	57741450	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	32940745	57741450	32613303	128	26103											
TMED6	146456	broad.mit.edu	37	chr16	69385485	69385485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtctggtgggcaaattGccaaaagcattccgtgcctc	9	10	10	12	1	1	0	0	0	1	0	4	0	3	0	4	2	3	2	4	2	3	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:69385485G>T	ENST00000288025.3	-	1	227	c.172C>A	c.(172-174)Caa>Aaa	p.Q58K	RP11-343C2.7_ENST00000564737.1_Missense_Mutation_p.A50E|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	58	GOLD.				transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						TGGGCAAATTGCCAAAAGCAT	0.483													17	131					5.35267e-07	5.7041e-07	1	0	T	69385485	G	T	69385485	3	4	138	1	0	0	0	0	1	0	0	0	16102	1328	46	4	566	4	TMED6	16	69385485	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	11644035	69385485	20969268	129	26104											
WWP2	11060	broad.mit.edu	37	chr16	69969816	69969816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctttctacaagcggatgCtcaataagagaccaaccctg	12	9	7	13	1	2	1	1	0	1	1	3	3	3	2	3	1	4	1	3	1	5	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:69969816C>T	ENST00000359154.2	+	18	2004	c.1903C>T	c.(1903-1905)Ctc>Ttc	p.L635F	WWP2_ENST00000568684.1_Missense_Mutation_p.L196F|WWP2_ENST00000448661.1_Missense_Mutation_p.L635F|WWP2_ENST00000542271.1_Missense_Mutation_p.L519F|WWP2_ENST00000356003.2_Missense_Mutation_p.L635F|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	635	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAAGCGGATGCTCAATAAGAG	0.547													32	157					0	0	0	0	T	69969816	C	T	69969816	3	4	138	1	0	0	0	0	1	0	0	0	17512	797	28	4	1973	4	WWP2	16	69969816	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	584331	69969816	20384937	130	26105											
ZFHX3	463	broad.mit.edu	37	chr16	72830136	72830136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatctgtgatcctggtgcGaggcctcttgttctgctgct	4	15	11	11	1	4	1	1	1	3	0	5	2	5	1	2	2	3	3	2	2	0	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:72830136G>A	ENST00000268489.5	-	9	7117	c.6445C>T	c.(6445-6447)Cgc>Tgc	p.R2149C	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1235C	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2149					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATCCTGGTGCGAGGCCTCTTG	0.547													12	64					0	0	0	0	A	72830136	G	A	72830136	3	1	138	1	0	0	0	0	1	0	0	0	17729	1058	37	1	4674	1	ZFHX3	16	72830136	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	2860320	72830136	17524617	131	26106											
TSR1	55720	broad.mit.edu	37	chr17	2234280	2234280	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttcaacctctttaaaGatgcttttcctagtgttagt	8	20	5	8	0	3	1	1	0	2	1	4	1	4	1	2	0	2	2	2	0	5	9			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:2234280G>T	ENST00000301364.4	-	9	2699	c.1620C>A	c.(1618-1620)atC>atA	p.I540I		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	540					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCTCTTTAAAGATGCTTTTCC	0.393													7	66					2.0095e-06	2.13067e-06	1	0	T	2234280	G	T	2234280	2	4	138	1	0	0	0	0	0	0	0	1	16759	932	33	2		2	TSR1	17	2234280	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08		2234280	78960930	132	26107											
CAMKK1	84254	broad.mit.edu	37	chr17	3783646	3783646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccccgcactcacagtactCgaggcccaggatgacgtccc	8	6	10	17	3	1	1	1	1	0	0	3	3	2	2	4	2	2	2	4	2	1	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:3783646C>T	ENST00000381771.2	-	10	1051	c.904G>A	c.(904-906)Gag>Aag	p.E302K	CAMKK1_ENST00000348335.2_Missense_Mutation_p.E264K|CAMKK1_ENST00000158166.5_Missense_Mutation_p.E302K|CAMKK1_ENST00000381769.2_Missense_Mutation_p.E291K			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	264	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TCACAGTACTCGAGGCCCAGG	0.652													7	38					0	0	0	0	T	3783646	C	T	3783646	3	4	138	1	0	0	0	0	1	0	0	0	2631	893	31	1	763	1	CAMKK1	17	3783646	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	1549366	3783646	77411564	133	26108											
TP53	7157	broad.mit.edu	37	chr17	7576927	7576927	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgttgttgggcagtgCtaggaaagaggcaaggaaag	11	8	18	4	0	0	1	0	0	0	1	0	3	0	3	0	5	1	6	0	5	4	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:7576927C>G	ENST00000420246.2	-	9	1052		c.e9-1		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGGGCAGTGCTAGGAAAGAG	0.493		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	73					0	0	0	0	G	7576927	C	G	7576927	5	3	138	1	0	0	0	0	0	0	1	0	16476	811	28	4	363	4	TP53	17	7576927	Splice_Site	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	3793281	7576927	73618283	134	26109											
TP53	7157	broad.mit.edu	37	chr17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcctctgtgcgccggtctCtcccaggacaggcacaaaca	8	8	9	16	2	2	0	0	0	2	0	5	1	4	1	3	3	2	1	3	3	1	1	rs121912660		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000455263.2_Missense_Mutation_p.R280T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			3	28					0	0	0	0	G	7577099	C	G	7577099	3	3	138	1	0	0	0	0	1	0	0	0	16476	913	32	2	447	2	TP53	17	7577099	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	172	7577099	73618111	135	26110											
NCOR1	9611	broad.mit.edu	37	chr17	16089965	16089965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgatgcctgactcacttCaagatgagaggaacgataat	13	10	10	8	1	2	4	2	3	0	2	2	7	2	5	1	1	2	0	1	1	3	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:16089965C>T	ENST00000268712.3	-	3	402	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	NCOR1_ENST00000395851.1_Missense_Mutation_p.E49K|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	49	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGACTCACTTCAAGATGAGAG	0.408													6	80					0	0	0	0	T	16089965	C	T	16089965	3	4	138	1	0	0	0	0	1	0	0	0	10305	835	29	2	7353	2	NCOR1	17	16089965	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	8512866	16089965	65105245	136	26111											
SLC13A2	9058	broad.mit.edu	37	chr17	26817427	26817427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcgggggcaccgtgggaGactccagggtcttcccgccg	5	6	15	15	4	1	1	0	0	1	1	4	2	3	1	5	4	0	1	5	4	0	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:26817427G>A	ENST00000444914.3	+	3	754	c.334G>A	c.(334-336)Gac>Aac	p.D112N	SLC13A2_ENST00000537681.1_Intron|SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000314669.5_Intron	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	66						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CACCGTGGGAGACTCCAGGGT	0.587													23	128					0	0	0	0	A	26817427	G	A	26817427	3	1	138	1	0	0	0	0	1	0	0	0	14480	942	33	2	344	2	SLC13A2	17	26817427	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	10727462	26817427	54377783	137	26112											
LUC7L3	51747	broad.mit.edu	37	chr17	48827881	48827882	+	Frame_Shift_Ins	INS	-	-	A																															aaaagaggggatctgatgatINSaaaaaaagtagtgtgaagtc																										TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:48827881_48827882insA	ENST00000505658.1	+	10	1347_1348	c.1158_1159insA	c.(1156-1161)gaaaaafs	p.EK386fs	LUC7L3_ENST00000240304.1_Frame_Shift_Ins_p.EK386fs|LUC7L3_ENST00000393227.2_Frame_Shift_Ins_p.EK386fs|LUC7L3_ENST00000544170.1_Frame_Shift_Ins_p.EK310fs			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	386	Arg/Ser-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	p.D386fs*2(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GATCTGATGATAAAAAAAGTAG	0.356													11	145	---	---	---	---					A	48827882	-	A	48827881	7	5	138	1	0	1	1	0	0	0	0	0	9148	1403	49	0	1196	0	LUC7L3	17	48827881	Frame_Shift_Ins	INS	-	TCGA-CQ-5331-01A-02D-1870-08	22010454	48827881	32367329	138	26113											
MKS1	54903	broad.mit.edu	37	chr17	56289744	56289744	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccaagctactcaccatctCaaagtcggtgcctacgaggc	11	7	9	14	2	2	0	2	0	1	0	4	1	2	0	3	2	5	1	3	2	4	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:56289744C>G	ENST00000393119.2	-	9	984	c.910G>C	c.(910-912)Gag>Cag	p.E304Q	MKS1_ENST00000537529.2_Missense_Mutation_p.E294Q|MKS1_ENST00000337050.7_Missense_Mutation_p.E304Q|MKS1_ENST00000313863.6_Missense_Mutation_p.E304Q|MKS1_ENST00000546108.1_Missense_Mutation_p.E101Q	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	304					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCACCATCTCAAAGTCGGTG	0.502													18	84					0	0	0	0	G	56289744	C	G	56289744	3	3	138	1	0	0	0	0	1	0	0	0	9678	835	29	2	809	2	MKS1	17	56289744	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	7461863	56289744	24905466	139	26114											
LPO	4025	broad.mit.edu	37	chr17	56345268	56345268	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtcccacgggacccattCtgggccaacagctaccccta	10	6	9	16	1	1	0	0	0	1	0	2	1	2	1	5	3	3	1	5	3	4	3	rs3744104		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:56345268C>T	ENST00000262290.4	+	13	2368	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F	LPO_ENST00000582328.1_Silent_p.F601F|LPO_ENST00000421678.2_Silent_p.F601F|LPO_ENST00000543544.1_Silent_p.F625F	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	684					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGGACCCATTCTGGGCCAACA	0.572													18	104					0	0	0	0	T	56345268	C	T	56345268	2	4	138	1	0	0	0	0	0	0	0	1	8986	912	32	2		2	LPO	17	56345268	Silent	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	55524	56345268	24849942	140	26115											
ICAM2	3384	broad.mit.edu	37	chr17	62081150	62081150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtggctgtggcctcctgcGgagcaggggctgccttcccg	3	9	16	13	2	0	0	0	0	0	0	2	1	2	1	4	5	3	3	4	5	0	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:62081150G>A	ENST00000412356.1	-	5	857	c.503C>T	c.(502-504)cCg>cTg	p.P168L	ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.P168L|ICAM2_ENST00000579687.1_Missense_Mutation_p.P168L|ICAM2_ENST00000578892.1_Missense_Mutation_p.P144L|ICAM2_ENST00000578379.1_Missense_Mutation_p.P67L|ICAM2_ENST00000449662.2_Missense_Mutation_p.P168L|ICAM2_ENST00000418105.1_Missense_Mutation_p.P168L|C17orf72_ENST00000412177.1_3'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	168	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GGCCTCCTGCGGAGCAGGGGC	0.627													16	74					0	0	0	0	A	62081150	G	A	62081150	3	1	138	1	0	0	0	0	1	0	0	0	7533	1116	39	1	332	1	ICAM2	17	62081150	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	5735882	62081150	19114060	141	26116											
AXIN2	8313	broad.mit.edu	37	chr17	63537611	63537611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttggccattggccttcaCactgcgatgcatttctctct	6	14	7	14	1	3	0	1	0	2	0	4	1	3	0	2	2	2	1	2	2	0	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:63537611C>A	ENST00000307078.5	-	4	1334	c.1021G>T	c.(1021-1023)Gtg>Ttg	p.V341L	AXIN2_ENST00000375702.5_Missense_Mutation_p.V341L|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	341	Interaction with GSK3B (By similarity).				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTGGCCTTCACACTGCGATGC	0.473									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				15	117					5.35267e-07	5.7041e-07	1	0	A	63537611	C	A	63537611	3	1	138	1	0	0	0	0	1	0	0	0	1241	478	17	4	1542	4	AXIN2	17	63537611	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	1456461	63537611	17657599	142	26117											
APOH	350	broad.mit.edu	37	chr17	64216816	64216816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgatggcttataaacacGaagtgttgcaaacgtaggta	14	10	11	6	2	0	1	0	1	0	0	0	2	0	1	0	2	4	6	0	2	7	5			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:64216816G>A	ENST00000205948.6	-	5	497	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	154	Sushi 3.		R -> H (in dbSNP:rs8178847).		blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTATAAACACGAAGTGTTGCA	0.383													14	96					0	0	0	0	A	64216816	G	A	64216816	3	1	138	1	0	0	0	0	1	0	0	0	806	1058	37	1	593	1	APOH	17	64216816	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	679205	64216816	16978394	143	26118											
NPTX1	4884	broad.mit.edu	37	chr17	78444754	78444754	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtacacctccccgggggtCagcttgcggtcccagatgtt	5	11	12	13	2	1	1	1	0	0	1	3	1	3	1	4	3	3	3	4	3	1	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:78444754C>T	ENST00000306773.4	-	5	1315	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	386	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCCCGGGGGTCAGCTTGCGGT	0.592													14	84					0	0	0	0	T	78444754	C	T	78444754	2	4	138	1	0	0	0	0	0	0	0	1	10673	813	29	2		2	NPTX1	17	78444754	Silent	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	14227938	78444754	2750456	144	26119											
ARHGAP28	79822	broad.mit.edu	37	chr18	6890002	6890002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcagtagaagcaaacactCtgattatgaagaattactgt	15	12	7	7	0	2	4	1	2	1	2	2	4	2	4	0	0	3	2	0	0	7	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr18:6890002C>G	ENST00000419673.2	+	12	1392	c.1175C>G	c.(1174-1176)tCt>tGt	p.S392C	ARHGAP28_ENST00000383472.4_Missense_Mutation_p.S551C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.S499C|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.S374C|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.S387C|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.S392C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.S551C|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.S392C	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	374					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AGCAAACACTCTGATTATGAA	0.398													12	85					0	0	0	0	G	6890002	C	G	6890002	3	3	138	1	0	0	0	0	1	0	0	0	879	913	32	2	1217	2	ARHGAP28	18	6890002	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08		6890002	71187246	145	26120											
THEG	51298	broad.mit.edu	37	chr19	362264	362264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggggtggcaagctcataGaggcgaggggacgcctgtcg	7	7	19	8	3	1	1	1	0	0	1	2	3	1	2	1	6	1	2	1	6	2	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:362264G>A	ENST00000342640.4	-	8	1118	c.1076C>T	c.(1075-1077)tCt>tTt	p.S359F	THEG_ENST00000346878.2_Missense_Mutation_p.S335F	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	359					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CAAGCTCATAGAGGCGAGGGG	0.602													24	152					0	0	0	0	A	362264	G	A	362264	3	1	138	1	0	0	0	0	1	0	0	0	15951	942	33	2	67	2	THEG	19	362264	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08		362264	58766719	146	26121											
HAUS8	93323	broad.mit.edu	37	chr19	17170416	17170416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttgactcaggtttctttGatattgtttttgctaactgt	7	21	8	5	0	2	2	1	2	1	0	2	2	2	2	0	1	2	4	0	1	2	8			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:17170416G>A	ENST00000593360.1	-	5	2206	c.188C>T	c.(187-189)tCa>tTa	p.S63L	HAUS8_ENST00000253669.5_Missense_Mutation_p.S124L|HAUS8_ENST00000448593.2_Missense_Mutation_p.S123L			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	124					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						AGGTTTCTTTGATATTGTTTT	0.428													13	78					0	0	0	0	A	17170416	G	A	17170416	3	1	138	1	0	0	0	0	1	0	0	0	7022	1294	45	2	885	2	HAUS8	19	17170416	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	16808152	17170416	41958567	147	26122											
ZNF208	7757	broad.mit.edu	37	chr19	22154039	22154039	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttatgtttactgaagactGataaccagctgaaggctttg	11	14	9	7	0	1	4	0	3	1	1	1	4	1	4	1	1	3	3	1	1	5	5			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:22154039G>C	ENST00000397126.4	-	4	3945	c.3797C>G	c.(3796-3798)tCa>tGa	p.S1266*	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTGAAGACTGATAACCAGCT	0.388													6	56					0	0	0	0	C	22154039	G	C	22154039	4	2	138	1	0	0	0	0	0	1	0	0	17861	1294	45	2	49	2	ZNF208	19	22154039	Nonsense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	4983623	22154039	36974944	148	26123											
RYR1	6261	broad.mit.edu	37	chr19	38959733	38959733	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatggcgaggtcctcatgtCtgactcaggctccgaaacag	10	8	11	12	2	3	1	2	1	1	0	5	3	5	1	2	3	1	1	2	3	2	0			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:38959733C>G	ENST00000355481.4	+	26	3640	c.3509C>G	c.(3508-3510)tCt>tGt	p.S1170C	RYR1_ENST00000360985.3_Missense_Mutation_p.S1170C|RYR1_ENST00000359596.3_Missense_Mutation_p.S1170C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1170	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCCTCATGTCTGACTCAGGC	0.567													10	100					0	0	0	0	G	38959733	C	G	38959733	3	3	138	1	0	0	0	0	1	0	0	0	13853	913	32	2	3611	2	RYR1	19	38959733	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	16805694	38959733	20169250	149	26124											
ZNF221	7638	broad.mit.edu	37	chr19	44470712	44470712	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcgtcagagatcagcacTtaatagtcattccatggtcc	10	13	7	11	1	3	1	3	0	0	1	6	2	5	1	2	1	1	1	2	1	2	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:44470712T>A	ENST00000251269.5	+	6	1386	c.1058T>A	c.(1057-1059)cTt>cAt	p.L353H	ZNF221_ENST00000587682.1_Missense_Mutation_p.L353H|ZNF221_ENST00000592350.1_Missense_Mutation_p.L353H	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AGATCAGCACTTAATAGTCAT	0.403													18	121					0	0	0	0	A	44470712	T	A	44470712	3	1	138	1	0	0	0	0	1	0	0	0	17870	1609	56	5	1072	5	ZNF221	19	44470712	Missense_Mutation	SNP	T	TCGA-CQ-5331-01A-02D-1870-08	5510979	44470712	14658271	150	26125											
SNRNP70	6625	broad.mit.edu	37	chr19	49610936	49610936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgtgaacatccggcattCaggccgcgatgacacctccc	9	8	10	14	3	1	3	1	3	0	0	3	4	3	3	4	2	1	1	4	2	1	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:49610936C>T	ENST00000221448.5	+	9	828	c.632C>T	c.(631-633)tCa>tTa	p.S211L	SNRNP70_ENST00000598441.1_Missense_Mutation_p.S211L	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	211					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						ATCCGGCATTCAGGCCGCGAT	0.657													12	63					0	0	0	0	T	49610936	C	T	49610936	3	4	138	1	0	0	0	0	1	0	0	0	14946	838	29	2	662	2	SNRNP70	19	49610936	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	5140224	49610936	9518047	151	26126											
LILRB3	11025	broad.mit.edu	37	chr19	54724540	54724540	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctggtacttatgagctccGtacattgatctcagacgcag	9	11	10	11	2	1	3	1	2	1	1	3	3	2	3	2	1	3	4	2	1	3	4			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:54724540G>A	ENST00000391750.1	-	7	1252	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	LILRB3_ENST00000407860.2_Silent_p.Y372Y|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000424807.1_Silent_p.Y372Y|LILRA6_ENST00000440558.2_Silent_p.Y372Y|LILRB3_ENST00000346401.6_Silent_p.Y372Y|LILRA6_ENST00000270464.5_Silent_p.Y372Y|LILRB3_ENST00000245620.9_Silent_p.Y372Y|LILRA6_ENST00000419410.2_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	372	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.Y372Y(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TATGAGCTCCGTACATTGATC	0.567													20	49					0	0	0	0	A	54724540	G	A	54724540	2	1	138	1	0	0	0	0	0	0	0	1	8846	1140	40	1		1	LILRB3	19	54724540	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	5113604	54724540	4404443	152	26127											
ACSS1	84532	broad.mit.edu	37	chr20	24989982	24989982	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcctgcaccaccacatctGagtcacccgcactatctttc	8	10	5	18	1	3	1	1	1	2	0	5	1	4	1	4	0	1	3	4	0	1	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr20:24989982G>C	ENST00000537502.1	-	11	3096	c.1565C>G	c.(1564-1566)tCa>tGa	p.S522*	ACSS1_ENST00000323482.4_Nonsense_Mutation_p.S605*|ACSS1_ENST00000484396.1_5'UTR|ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000542618.1_Nonsense_Mutation_p.S484*			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	605					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCACATCTGAGTCACCCGC	0.502													36	190					0	0	0	0	C	24989982	G	C	24989982	4	2	138	1	0	0	0	0	0	1	0	0	188	1294	45	2	263	2	ACSS1	20	24989982	Nonsense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08		24989982	38035538	153	26128											
UBASH3A	53347	broad.mit.edu	37	chr21	43862566	43862566	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctgttgaatccagaactCaaactggagaaaaaaatcaa	19	9	6	7	0	3	3	2	1	1	2	4	4	4	3	1	1	2	1	1	1	7	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr21:43862566C>G	ENST00000319294.6	+	12	1522	c.1491C>G	c.(1489-1491)ctC>ctG	p.L497L	UBASH3A_ENST00000291535.6_Silent_p.L459L|UBASH3A_ENST00000398367.1_Silent_p.L459L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	497	Phosphatase-like.					cytosol|nucleus		p.L497L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ATCCAGAACTCAAACTGGAGA	0.428													19	113					0	0	0	0	G	43862566	C	G	43862566	2	3	138	1	0	0	0	0	0	0	0	1	16935	813	29	2		2	UBASH3A	21	43862566	Silent	SNP	C	TCGA-CQ-5331-01A-02D-1870-08		43862566	4267329	154	26129											
DGCR6L	85359	broad.mit.edu	37	chr22	20307265	20307265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atttcgaacacggtgccgtcGagaagcgccagggccaggtc	9	6	14	12	5	0	1	0	0	0	1	3	3	0	1	3	3	3	0	3	3	2	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr22:20307265G>C	ENST00000405465.3	-	2	175	c.155C>G	c.(154-156)tCg>tGg	p.S52W	DGCR6L_ENST00000248879.3_Silent_p.L56L			Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	52						nucleus				endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					CGGTGCCGTCGAGAAGCGCCA	0.652													6	22					0	0	0	0	C	20307265	G	C	20307265	3	2	138	1	0	0	0	0	1	0	0	0	4500	1045	37	3	510	3	DGCR6L	22	20307265	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08		20307265	30997301	155	26130											
CSNK1E	1454	broad.mit.edu	37	chr22	38698935	38698935	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagaagttgaacaggtcctcGaggctaggccccagcagctc	10	6	12	13	1	0	2	0	1	0	1	3	3	1	2	3	3	3	4	3	3	3	2			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr22:38698935G>C	ENST00000396832.1	-	4	527	c.267C>G	c.(265-267)ctC>ctG	p.L89L	CSNK1E_ENST00000413574.2_Silent_p.L89L|CSNK1E_ENST00000403904.1_Silent_p.L89L|CSNK1E_ENST00000405675.3_Silent_p.L89L|CSNK1E_ENST00000359867.3_Silent_p.L89L|CSNK1E_ENST00000400206.2_Silent_p.L89L	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	89	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					ACAGGTCCTCGAGGCTAGGCC	0.622													16	89					0	0	0	0	C	38698935	G	C	38698935	2	2	138	1	0	0	0	0	0	0	0	1	3985	1045	37	3		3	CSNK1E	22	38698935	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	18391670	38698935	12605631	156	26131											
EP300	2033	broad.mit.edu	37	chr22	41556666	41556666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatcatttctgtgagaagtGtttcaatgagatccaagggg	11	13	12	5	0	3	2	2	2	1	2	4	4	4	2	1	2	0	2	1	2	4	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr22:41556666G>A	ENST00000263253.7	+	20	4830	c.3611G>A	c.(3610-3612)tGt>tAt	p.C1204Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1204					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTGAGAAGTGTTTCAATGAG	0.468			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				19	85					0	0	0	0	A	41556666	G	A	41556666	3	1	138	1	0	0	0	0	1	0	0	0	5186	1377	48	4	3689	4	EP300	22	41556666	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	2857731	41556666	9747900	157	26132											
DMD	1756	broad.mit.edu	37	chrX	31986458	31986458	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagatctgtcgccctacctCttttttctgtctgacagctg	5	17	7	12	1	4	2	0	1	4	1	5	2	4	2	2	0	2	1	2	0	2	5			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:31986458C>G	ENST00000357033.4	-	45	6818	c.6612G>C	c.(6610-6612)aaG>aaC	p.K2204N	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.K2200N|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2204					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGCCCTACCTCTTTTTTCTGT	0.398													17	180					0	0	0	0	G	31986458	C	G	31986458	3	3	138	1	0	0	0	0	1	0	0	0	4617	912	32	2	4733	2	DMD	23	31986458	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08		31986458	123284102	158	26133											
ZNF182	7569	broad.mit.edu	37	chrX	47837082	47837082	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaactcatgacagtcaCgagcactcttggtgataatt	12	12	7	10	1	3	2	2	2	1	0	4	3	4	2	1	1	2	1	1	1	2	4	rs140603964		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:47837082C>G	ENST00000396965.1	-	7	754	c.404G>C	c.(403-405)cGt>cCt	p.R135P	ZNF182_ENST00000376943.3_Missense_Mutation_p.R116P|ZNF182_ENST00000305127.6_Missense_Mutation_p.R135P	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						ATGACAGTCACGAGCACTCTT	0.378													14	85					0	0	0	0	G	47837082	C	G	47837082	3	3	138	1	0	0	0	0	1	0	0	0	17845	536	19	3	1519	3	ZNF182	23	47837082	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	15850624	47837082	107433478	159	26134											
TBC1D25	4943	broad.mit.edu	37	chrX	48417355	48417355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgacgtgttgctggctgaGaaacggtcatcactgacgac	9	9	12	11	4	2	2	2	2	0	1	3	5	3	2	1	2	2	3	1	2	1	1			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:48417355G>C	ENST00000376771.4	+	4	800	c.459G>C	c.(457-459)gaG>gaC	p.E153D	TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Intron	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	153						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGCTGGCTGAGAAACGGTCAT	0.537													6	68					0	0	0	0	C	48417355	G	C	48417355	3	2	138	1	0	0	0	0	1	0	0	0	15706	933	33	2	473	2	TBC1D25	23	48417355	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	580273	48417355	106853205	160	26135											
MED12	9968	broad.mit.edu	37	chrX	70346843	70346843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatgaactgagtgtagttGaggctgagctgcttctcaaa	11	12	12	6	0	1	5	1	5	1	0	2	5	1	5	0	1	3	5	0	1	4	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:70346843G>C	ENST00000333646.6	+	20	2909	c.2710G>C	c.(2710-2712)Gag>Cag	p.E904Q	MED12_ENST00000374080.3_Missense_Mutation_p.E904Q|MED12_ENST00000374102.1_Missense_Mutation_p.E904Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	904					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GAGTGTAGTTGAGGCTGAGCT	0.542			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						10	102					0	0	0	0	C	70346843	G	C	70346843	3	2	138	1	0	0	0	0	1	0	0	0	9497	1291	45	2	2788	2	MED12	23	70346843	Missense_Mutation	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	21929488	70346843	84923717	161	26136											
MAGEC1	9947	broad.mit.edu	37	chrX	140996182	140996182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggcatgtcccagaacCgcctcctgattcttattctg	8	11	9	13	1	2	2	0	1	2	1	4	2	4	2	4	1	2	2	4	1	2	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:140996182C>A	ENST00000285879.4	+	4	3278	c.2992C>A	c.(2992-2994)Cgc>Agc	p.R998S	MAGEC1_ENST00000406005.2_Missense_Mutation_p.R65S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	998	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCCAGAACCGCCTCCTGAT	0.512										HNSCC(15;0.026)			20	185					2.37509e-13	2.67992e-13	1	0	A	140996182	C	A	140996182	3	1	138	1	0	0	0	0	1	0	0	0	9249	652	23	3	2998	3	MAGEC1	23	140996182	Missense_Mutation	SNP	C	TCGA-CQ-5331-01A-02D-1870-08	70649339	140996182	14274378	162	26137											
FAM3A	60343	broad.mit.edu	37	chrX	153735817	153735817	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaacttcaacaggtcgttGacatctgggggggcaggtgc	10	9	14	8	1	2	1	1	1	1	0	3	1	2	1	0	5	3	2	0	5	3	3			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:153735817G>C	ENST00000434658.2	-	6	808	c.339C>G	c.(337-339)gtC>gtG	p.V113V	FAM3A_ENST00000359889.5_Silent_p.V130V|FAM3A_ENST00000369641.3_Silent_p.V137V|FAM3A_ENST00000369643.1_Silent_p.V130V|FAM3A_ENST00000393572.1_Silent_p.V92V|FAM3A_ENST00000447601.2_Silent_p.V130V	NM_001171134.1	NP_001164605.1	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	130						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACAGGTCGTTGACATCTGGGG	0.582													7	31					0	0	0	0	C	153735817	G	C	153735817	2	2	138	1	0	0	0	0	0	0	0	1	5603	1277	45	2		2	FAM3A	23	153735817	Silent	SNP	G	TCGA-CQ-5331-01A-02D-1870-08	12739635	153735817	1534743	163	26138											
CAMTA1	23261	broad.mit.edu	37	chr1	7724919	7724919	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgacatctccttcagcaAccagttctccgacctgatca	9	12	5	15	1	4	2	2	2	2	0	6	3	4	2	4	0	2	2	4	0	1	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:7724919A>T	ENST00000303635.7	+	9	2519	c.2312A>T	c.(2311-2313)aAc>aTc	p.N771I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N771I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	771					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCCTTCAGCAACCAGTTCTCC	0.627			T	WWTR1	epitheliod hemangioendothelioma								124	55					0	0	0	0	T	7724919	A	T	7724919	3	4	139	1	0	0	0	0	1	0	0	0	2638	43	2	5	2346	5	CAMTA1	1	7724919	Missense_Mutation	SNP	A	TCGA-CQ-5332-01A-01D-1683-08		7724919	241525702	1	26139											
SERINC2	347735	broad.mit.edu	37	chr1	31896555	31896555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggcgtcctgcctctgcGgctctgccccctgcatcctg	2	9	11	19	3	2	0	0	0	2	0	4	0	4	0	5	2	4	3	5	2	0	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:31896555G>A	ENST00000373710.1	+	3	355	c.82G>A	c.(82-84)Ggc>Agc	p.G28S	SERINC2_ENST00000536859.1_Missense_Mutation_p.G23S|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Missense_Mutation_p.G23S|SERINC2_ENST00000373709.3_Missense_Mutation_p.G19S	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	19						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTGCCTCTGCGGCTCTGCCCC	0.677													27	18					0	0	0	0	A	31896555	G	A	31896555	3	1	139	1	0	0	0	0	1	0	0	0	14167	1116	39	1	61	1	SERINC2	1	31896555	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	24171636	31896555	217354066	2	26140											
ZMYM1	79830	broad.mit.edu	37	chr1	35580081	35580081	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcttcaaaataaaaccAtagacattttttctttgtct	15	15	4	7	0	3	2	1	0	2	2	3	2	3	2	1	0	2	1	1	0	6	7			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:35580081A>G	ENST00000373330.1	+	11	2824	c.2650A>G	c.(2650-2652)Ata>Gta	p.I884V	ZMYM1_ENST00000359858.4_Missense_Mutation_p.I884V|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	884						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAATAAAACCATAGACATTTT	0.313													24	8					0	0	0	0	G	35580081	A	G	35580081	3	3	139	1	0	0	0	0	1	0	0	0	17794	217	8	5	2684	5	ZMYM1	1	35580081	Missense_Mutation	SNP	A	TCGA-CQ-5332-01A-01D-1683-08	3683526	35580081	213670540	3	26141											
MAP7D1	55700	broad.mit.edu	37	chr1	36638137	36638137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagcagctccaggagcGccggcgccggctggaggagc	8	2	19	12	4	0	1	0	0	0	1	1	5	1	4	3	6	4	3	3	6	1	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:36638137G>A	ENST00000316156.4	+	4	986	c.533G>A	c.(532-534)cGc>cAc	p.R178H	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Missense_Mutation_p.R178H|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R178H			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	178						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CTCCAGGAGCGCCGGCGCCGG	0.642													13	7					0	0	0	0	A	36638137	G	A	36638137	3	1	139	1	0	0	0	0	1	0	0	0	9336	1087	38	1	547	1	MAP7D1	1	36638137	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	1058056	36638137	212612484	4	26142											
HIST2H2BE	8349	broad.mit.edu	37	chr1	149858147	149858147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctttggtgacggctttcttgGagccctttttaggggccgga	4	14	14	9	2	1	1	0	1	1	0	1	3	1	3	2	6	1	1	2	6	1	6			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:149858147G>C	ENST00000369155.2	-	1	85	c.44C>G	c.(43-45)tCc>tGc	p.S15C		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	15					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGCTTTCTTGGAGCCCTTTTT	0.537													43	92					0	0	0	0	C	149858147	G	C	149858147	3	2	139	1	0	0	0	0	1	0	0	0	7229	1174	41	2	340	2	HIST2H2BE	1	149858147	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	113220010	149858147	99392474	5	26143											
LINGO4	339398	broad.mit.edu	37	chr1	151774826	151774826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccccatgattctgagccGattgccctgcagcctcaggg	7	8	12	14	1	2	2	1	2	1	0	2	3	2	2	5	2	4	1	5	2	0	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:151774826G>A	ENST00000368820.3	-	2	1292	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	119						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATTCTGAGCCGATTGCCCTGC	0.577													10	68					0	0	0	0	A	151774826	G	A	151774826	3	1	139	1	0	0	0	0	1	0	0	0	8872	1057	37	1	1430	1	LINGO4	1	151774826	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	1916679	151774826	97475795	6	26144											
IGSF9	57549	broad.mit.edu	37	chr1	159904572	159904572	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaacatcctgggaggcattGactgtgctgttcttgggggg	7	11	16	7	0	1	1	0	1	1	0	2	3	2	2	1	5	2	3	1	5	1	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:159904572G>A	ENST00000368094.1	-	7	911	c.714C>T	c.(712-714)gtC>gtT	p.V238V	IGSF9_ENST00000361509.3_Silent_p.V238V	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	238	Ig-like 3.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGAGGCATTGACTGTGCTGT	0.562													10	55					0	0	0	0	A	159904572	G	A	159904572	2	1	139	1	0	0	0	0	0	0	0	1	7658	1277	45	2		2	IGSF9	1	159904572	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	8129746	159904572	89346049	7	26145											
PPP1R12B	4660	broad.mit.edu	37	chr1	202407199	202407199	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaggcagtttttttttTccatgaaaattcaatcttag	11	18	5	7	0	2	1	1	1	1	0	4	1	4	1	2	1	0	2	2	1	5	8			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:202407199T>C	ENST00000480184.1	+	10	1637	c.1505T>C	c.(1504-1506)tTc>tCc	p.F502S	PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000406302.3_Intron|PPP1R12B_ENST00000336894.4_Intron	NM_001167857.1	NP_001161329.1	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	502					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GTTTTTTTTTTCCATGAAAAT	0.388													14	35					0	0	0	0	C	202407199	T	C	202407199	3	2	139	1	0	0	0	0	1	0	0	0	12431	1783	62	5	1543	5	PPP1R12B	1	202407199	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	42502627	202407199	46843422	8	26146											
CENPF	1063	broad.mit.edu	37	chr1	214825109	214825109	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagaagagcctagattgCatgcacaaagaccaggtgga	15	7	12	7	0	0	5	0	1	0	4	0	6	0	6	2	2	3	2	2	2	4	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:214825109C>T	ENST00000366955.3	+	15	8208	c.8040C>T	c.(8038-8040)tgC>tgT	p.C2680C	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2776	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCCTAGATTGCATGCACAAAG	0.388													16	43					0	0	0	0	T	214825109	C	T	214825109	2	4	139	1	0	0	0	0	0	0	0	1	3260	718	25	4		4	CENPF	1	214825109	Silent	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	12417910	214825109	34425512	9	26147											
KCTD3	51133	broad.mit.edu	37	chr1	215775490	215775490	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaactgaactgtatcatgAtccttcaaatgatgctatta	13	15	6	7	0	2	3	2	3	0	0	3	3	3	3	1	0	3	3	1	0	6	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:215775490A>T	ENST00000259154.4	+	12	1379	c.1085A>T	c.(1084-1086)gAt>gTt	p.D362V		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	362						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CTGTATCATGATCCTTCAAAT	0.303													28	47					0	0	0	0	T	215775490	A	T	215775490	3	4	139	1	0	0	0	0	1	0	0	0	8163	333	12	5	1131	5	KCTD3	1	215775490	Missense_Mutation	SNP	A	TCGA-CQ-5332-01A-01D-1683-08	950381	215775490	33475131	10	26148											
KCTD3	51133	broad.mit.edu	37	chr1	215792410	215792410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttaacaaaagtgaagataAgggtaggttctcatacagaa	17	9	11	4	0	1	3	1	1	1	2	2	3	1	3	0	3	2	3	0	3	8	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:215792410A>G	ENST00000259154.4	+	16	2039	c.1745A>G	c.(1744-1746)aAg>aGg	p.K582R	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	582						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.K582M(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGTGAAGATAAGGGTAGGTTC	0.393													11	67					0	0	0	0	G	215792410	A	G	215792410	3	3	139	1	0	0	0	0	1	0	0	0	8163	72	3	5	1807	5	KCTD3	1	215792410	Missense_Mutation	SNP	A	TCGA-CQ-5332-01A-01D-1683-08	16920	215792410	33458211	11	26149											
SIPA1L2	57568	broad.mit.edu	37	chr1	232561495	232561495	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctgttgctgcagatgctCtcgtcagacagcgtgcggta	6	11	12	12	3	2	2	1	0	1	2	4	2	3	2	1	1	5	5	1	1	1	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:232561495C>G	ENST00000366630.1	-	17	4828	c.4470G>C	c.(4468-4470)gaG>gaC	p.E1490D	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E1490D|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.E564D			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1490					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.E1490D(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGCAGATGCTCTCGTCAGACA	0.552													16	18					0	0	0	0	G	232561495	C	G	232561495	3	3	139	1	0	0	0	0	1	0	0	0	14418	912	32	2	722	2	SIPA1L2	1	232561495	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	16769085	232561495	16689126	12	26150											
PCNXL2	80003	broad.mit.edu	37	chr1	233394939	233394939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctttcctttaccattgatGagagtttctgtggcaactgg	7	16	9	9	0	1	2	0	2	1	1	3	3	3	2	3	2	2	2	3	2	2	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:233394939G>A	ENST00000258229.8	-	5	903	c.669C>T	c.(667-669)ctC>ctT	p.L223L	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	223						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TACCATTGATGAGAGTTTCTG	0.498													12	103					0	0	0	0	A	233394939	G	A	233394939	2	1	139	1	0	0	0	0	0	0	0	1	11663	1277	45	2		2	PCNXL2	1	233394939	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	833444	233394939	15855682	13	26151											
EDARADD	128178	broad.mit.edu	37	chr1	236572548	236572548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaaccagtggaagacacaGaccctagcactttatccttt	13	9	8	11	0	0	2	0	0	0	2	1	4	1	4	3	2	2	1	3	2	4	4			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:236572548G>A	ENST00000359362.5	+	2	278	c.64G>A	c.(64-66)Gac>Aac	p.D22N	EDARADD_ENST00000334232.4_Missense_Mutation_p.D32N	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	32					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGAAGACACAGACCCTAGCAC	0.308													19	41					0	0	0	0	A	236572548	G	A	236572548	3	1	139	1	0	0	0	0	1	0	0	0	4942	942	33	2	135	2	EDARADD	1	236572548	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	3177609	236572548	12678073	14	26152											
NLRC4	58484	broad.mit.edu	37	chr2	32476104	32476104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcagtggtagtggtgaCgatgaccatgttcttgaagc	9	11	13	8	1	2	3	1	3	1	0	2	4	2	3	1	2	1	3	1	2	2	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:32476104C>T	ENST00000404025.2	-	5	1317	c.829G>A	c.(829-831)Gtc>Atc	p.V277I	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.V277I|NLRC4_ENST00000402280.1_Missense_Mutation_p.V277I			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	277	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTAGTGGTGACGATGACCATG	0.522													45	116					0	0	0	0	T	32476104	C	T	32476104	3	4	139	1	0	0	0	0	1	0	0	0	10539	536	19	1	2269	1	NLRC4	2	32476104	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08		32476104	210723269	15	26153											
LTBP1	4052	broad.mit.edu	37	chr2	33500893	33500893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaatgcctgaggccggaCgtctgtggggaggggcactg	7	6	19	9	3	1	1	0	1	1	0	1	5	1	3	2	6	1	1	2	6	1	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:33500893C>G	ENST00000404816.2	+	18	3248	c.2895C>G	c.(2893-2895)gaC>gaG	p.D965E	LTBP1_ENST00000407925.1_Missense_Mutation_p.D639E|LTBP1_ENST00000390003.4_Missense_Mutation_p.D640E|LTBP1_ENST00000402934.1_Missense_Mutation_p.D586E|LTBP1_ENST00000354476.3_Missense_Mutation_p.D966E|LTBP1_ENST00000418533.2_Missense_Mutation_p.D639E|LTBP1_ENST00000404525.1_Missense_Mutation_p.D586E			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	965	EGF-like 6; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGAGGCCGGACGTCTGTGGGG	0.532													41	160					0	0	0	0	G	33500893	C	G	33500893	3	3	139	1	0	0	0	0	1	0	0	0	9137	535	19	3	3020	3	LTBP1	2	33500893	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	1024789	33500893	209698480	16	26154											
MTA3	57504	broad.mit.edu	37	chr2	42836652	42836652	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgacttgaccgataagcAgaaacatcagttgaaacata	16	8	9	8	1	1	4	1	3	0	1	1	5	1	4	1	1	3	3	1	1	4	4			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:42836652A>G	ENST00000405592.1	+	5	747	c.77A>G	c.(76-78)cAg>cGg	p.Q26R	MTA3_ENST00000405094.1_Missense_Mutation_p.Q82R|MTA3_ENST00000406652.1_Missense_Mutation_p.Q26R|MTA3_ENST00000407270.3_Missense_Mutation_p.Q82R|MTA3_ENST00000406911.1_Missense_Mutation_p.Q82R			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	82	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ACCGATAAGCAGAAACATCAG	0.358													8	73					0	0	0	0	G	42836652	A	G	42836652	3	3	139	1	0	0	0	0	1	0	0	0	9980	188	7	5	259	5	MTA3	2	42836652	Missense_Mutation	SNP	A	TCGA-CQ-5332-01A-01D-1683-08	9335759	42836652	200362721	17	26155											
NRXN1	9378	broad.mit.edu	37	chr2	50318532	50318532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccactcctcgtgaaaCgaactacatggtatttccca	11	10	6	14	2	0	1	0	1	0	0	3	2	2	1	4	1	4	1	4	1	4	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:50318532C>T	ENST00000404971.1	-	20	5106	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	NRXN1_ENST00000406859.3_Missense_Mutation_p.R1216H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000342183.5_Missense_Mutation_p.R181H|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000401710.1_Missense_Mutation_p.R234H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1216	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R1257H(1)|p.R181H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCTCGTGAAACGAACTACATG	0.473													69	227					0	0	0	0	T	50318532	C	T	50318532	3	4	139	1	0	0	0	0	1	0	0	0	10736	536	19	1	896	1	NRXN1	2	50318532	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	7481880	50318532	192880841	18	26156											
XPO1	7514	broad.mit.edu	37	chr2	61719576	61719576	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatgcaataatagctttaTtatctttgcctcttttctgt	8	21	5	7	0	3	1	0	1	3	0	3	1	3	1	1	0	3	2	1	0	5	9			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:61719576T>G	ENST00000401558.2	-	15	2334	c.1607A>C	c.(1606-1608)aAt>aCt	p.N536T	XPO1_ENST00000406957.1_Missense_Mutation_p.N536T|XPO1_ENST00000404992.2_Missense_Mutation_p.N536T	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	536	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AATAGCTTTATTATCTTTGCC	0.299			Mis		CLL								18	33					0	0	0	0	G	61719576	T	G	61719576	3	3	139	1	0	0	0	0	1	0	0	0	17541	1493	52	5	1652	5	XPO1	2	61719576	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	11401044	61719576	181479797	19	26157											
DYSF	8291	broad.mit.edu	37	chr2	71838717	71838717	+	Missense_Mutation	SNP	G	G	T																															gtcatcaggaacctccggaaGaaccccaactttgacatctg																										TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:71838717G>T	ENST00000258104.3	+	38	4405	c.4128G>T	c.(4126-4128)aaG>aaT	p.K1376N	DYSF_ENST00000409582.3_Missense_Mutation_p.K1393N|DYSF_ENST00000409762.1_Missense_Mutation_p.K1393N|DYSF_ENST00000409744.1_Missense_Mutation_p.K1363N|DYSF_ENST00000409651.1_Missense_Mutation_p.K1408N|DYSF_ENST00000413539.2_Missense_Mutation_p.K1407N|DYSF_ENST00000410041.1_Missense_Mutation_p.K1394N|DYSF_ENST00000409366.1_Missense_Mutation_p.K1377N|DYSF_ENST00000429174.2_Missense_Mutation_p.K1376N|DYSF_ENST00000394120.2_Missense_Mutation_p.K1377N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Missense_Mutation_p.K1394N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1376						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCTCCGGAAGAACCCCAACT	0.572													5	34					0.217242	0.218328	1	0	T	71838717	G	T	71838717	3	4	139	1	0	0	0	0	1	0	0	0	4895	933	33	2	4470	2	DYSF	2	71838717	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	10119141	71838717	171360656	20	26158	209	2									
DYSF	8291	broad.mit.edu	37	chr2	71838718	71838718	+	Missense_Mutation	SNP	A	A	C																															tcatcaggaacctccggaagAaccccaactttgacatctgc																										TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:71838718A>C	ENST00000258104.3	+	38	4406	c.4129A>C	c.(4129-4131)Aac>Cac	p.N1377H	DYSF_ENST00000409582.3_Missense_Mutation_p.N1394H|DYSF_ENST00000409762.1_Missense_Mutation_p.N1394H|DYSF_ENST00000409744.1_Missense_Mutation_p.N1364H|DYSF_ENST00000409651.1_Missense_Mutation_p.N1409H|DYSF_ENST00000413539.2_Missense_Mutation_p.N1408H|DYSF_ENST00000410041.1_Missense_Mutation_p.N1395H|DYSF_ENST00000409366.1_Missense_Mutation_p.N1378H|DYSF_ENST00000429174.2_Missense_Mutation_p.N1377H|DYSF_ENST00000394120.2_Missense_Mutation_p.N1378H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Missense_Mutation_p.N1395H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1377						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCCGGAAGAACCCCAACTT	0.577													5	33					0	0	0	0	C	71838718	A	C	71838718	3	2	139	1	0	0	0	0	1	0	0	0	4895	246	9	5	4471	5	DYSF	2	71838718	Missense_Mutation	SNP	A	TCGA-CQ-5332-01A-01D-1683-08	1	71838718	171360655	21	26159	209	2									
SNRNP200	23020	broad.mit.edu	37	chr2	96970578	96970578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtccggtcaatgagagaaCggtcagcttggagcacaaga	12	6	15	8	2	2	3	2	1	0	2	3	5	3	4	1	4	3	2	1	4	3	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:96970578C>T	ENST00000323853.5	-	2	151	c.74G>A	c.(73-75)cGt>cAt	p.R25H	SNRNP200_ENST00000349783.5_Missense_Mutation_p.R25H	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	25						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AATGAGAGAACGGTCAGCTTG	0.522													14	32					0	0	0	0	T	96970578	C	T	96970578	3	4	139	1	0	0	0	0	1	0	0	0	14940	536	19	1	6512	1	SNRNP200	2	96970578	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	25131860	96970578	146228795	22	26160											
C2orf40	84417	broad.mit.edu	37	chr2	106690370	106690370	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactaagactaaagtggcCgttgatgagaataaagccaa	17	7	9	8	1	0	3	0	2	0	2	0	4	0	3	3	1	2	1	3	1	8	4			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:106690370C>T	ENST00000409944.1	+	4	279	c.48C>T	c.(46-48)gcC>gcT	p.A16A	C2orf40_ENST00000238044.3_Silent_p.A52A|C2orf40_ENST00000489174.1_3'UTR			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	52						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						CTAAAGTGGCCGTTGATGAGA	0.527													72	116					0	0	0	0	T	106690370	C	T	106690370	2	4	139	1	0	0	0	0	0	0	0	1	2185	639	23	1		1	C2orf40	2	106690370	Silent	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	9719792	106690370	136509003	23	26161											
UBXN4	23190	broad.mit.edu	37	chr2	136528287	136528287	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggcagctcgagaacgtatAaaacagcagattgcattggt	14	8	12	7	2	0	2	0	0	0	2	1	3	0	2	0	2	5	5	0	2	4	4			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:136528287A>G	ENST00000272638.9	+	8	1115	c.804A>G	c.(802-804)atA>atG	p.I268M	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	268					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GAGAACGTATAAAACAGCAGA	0.373													20	18					0	0	0	0	G	136528287	A	G	136528287	3	3	139	1	0	0	0	0	1	0	0	0	17012	352	13	5	834	5	UBXN4	2	136528287	Missense_Mutation	SNP	A	TCGA-CQ-5332-01A-01D-1683-08	29837917	136528287	106671086	24	26162											
TTN	7273	broad.mit.edu	37	chr2	179616133	179616133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatgtaatctgttttcttgGcagaactcattgtcttaaaa	12	16	6	7	0	4	1	1	0	3	1	4	1	4	1	0	1	1	3	0	1	4	6			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:179616133G>A	ENST00000360870.5	-	46	11216	c.10994C>T	c.(10993-10995)gCc>gTc	p.A3665V	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9510	Ig-like 22.						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)			TGTTTTCTTGGCAGAACTCAT	0.363													196	56					0	0	0	0	A	179616133	G	A	179616133	3	1	139	1	0	0	0	0	1	0	0	0	16831	1203	42	4	99303	4	TTN	2	179616133	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	43087846	179616133	63583240	25	26163											
INO80D	54891	broad.mit.edu	37	chr2	206869901	206869901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtaaggccaacgttggctgGggcagagaactgcccctgga	10	6	15	10	1	0	1	0	0	0	1	0	3	0	2	3	5	3	4	3	5	3	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:206869901G>A	ENST00000403263.1	-	11	2679	c.2275C>T	c.(2275-2277)Cca>Tca	p.P759S		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	759					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						ACGTTGGCTGGGGCAGAGAAC	0.557													41	51					0	0	0	0	A	206869901	G	A	206869901	3	1	139	1	0	0	0	0	1	0	0	0	7802	1232	43	4	812	4	INO80D	2	206869901	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	27253768	206869901	36329472	26	26164											
SLC4A3	6508	broad.mit.edu	37	chr2	220501041	220501041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagagaagaccgaggggCtgatgggcgtgtccgagctg	9	5	19	8	3	0	3	0	1	0	2	1	7	1	4	2	4	1	2	2	4	1	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:220501041C>A	ENST00000358055.3	+	15	2721	c.2209C>A	c.(2209-2211)Ctg>Atg	p.L737M	SLC4A3_ENST00000273063.6_Missense_Mutation_p.L764M|SLC4A3_ENST00000373762.3_Missense_Mutation_p.L764M|SLC4A3_ENST00000373760.2_Missense_Mutation_p.L737M|SLC4A3_ENST00000317151.3_Missense_Mutation_p.L737M			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	737	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCGAGGGGCTGATGGGCGT	0.617													64	24					3.30712e-30	3.77688e-30	1	0	A	220501041	C	A	220501041	3	1	139	1	0	0	0	0	1	0	0	0	14743	796	28	4	2344	4	SLC4A3	2	220501041	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	13631140	220501041	22698332	27	26165											
KLF15	28999	broad.mit.edu	37	chr3	126062647	126062647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggagaggtggtcgctccGcgcgaacttcttctcgcaca	6	10	12	13	5	2	1	0	0	2	1	5	3	3	1	1	3	1	2	1	3	1	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr3:126062647G>A	ENST00000296233.3	-	3	1404	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	392						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TGGTCGCTCCGCGCGAACTTC	0.652													8	17					0	0	0	0	A	126062647	G	A	126062647	3	1	139	1	0	0	0	0	1	0	0	0	8395	1086	38	1	80	1	KLF15	3	126062647	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08		126062647	71959783	28	26166											
ZIC4	84107	broad.mit.edu	37	chr3	147114186	147114186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcctggggaggctcctcGtggaggcccgggaacaccga	7	4	18	12	3	0	0	0	0	0	0	2	5	1	3	4	7	1	1	4	7	1	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr3:147114186G>A	ENST00000383075.3	-	3	653	c.141C>T	c.(139-141)caC>caT	p.H47H	ZIC4_ENST00000425731.3_Silent_p.H85H|ZIC4_ENST00000473123.1_Silent_p.H47H|ZIC4_ENST00000525172.2_Silent_p.H97H|ZIC4_ENST00000484399.1_Silent_p.H47H|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	47						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GAGGCTCCTCGTGGAGGCCCG	0.672													4	29					0	0	0	0	A	147114186	G	A	147114186	2	1	139	1	0	0	0	0	0	0	0	1	17776	1136	40	1		1	ZIC4	3	147114186	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	21051539	147114186	50908244	29	26167											
SLC2A2	6514	broad.mit.edu	37	chr3	170716163	170716163	+	Missense_Mutation	SNP	T	T	A																															agatggctatcatgctcacaTaactcatccaagagaactta																										TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr3:170716163T>A	ENST00000314251.3	-	10	1272	c.1193A>T	c.(1192-1194)tAt>tTt	p.Y398F	SLC2A2_ENST00000382808.4_Missense_Mutation_p.Y279F	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	398					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			CATGCTCACATAACTCATCCA	0.433													14	34					0	0	0	0	A	170716163	T	A	170716163	3	1	139	1	0	0	0	0	1	0	0	0	14632	1406	49	5	389	5	SLC2A2	3	170716163	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	23601977	170716163	27306267	30	26168	210	2									
SLC2A2	6514	broad.mit.edu	37	chr3	170716165	170716165	+	Silent	SNP	A	A	G																															atggctatcatgctcacataActcatccaagagaacttatt																										TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr3:170716165A>G	ENST00000314251.3	-	10	1270	c.1191T>C	c.(1189-1191)agT>agC	p.S397S	SLC2A2_ENST00000382808.4_Silent_p.S278S	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	397					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TGCTCACATAACTCATCCAAG	0.433													13	35					0	0	0	0	G	170716165	A	G	170716165	2	3	139	1	0	0	0	0	0	0	0	1	14632	40	2	5		5	SLC2A2	3	170716165	Silent	SNP	A	TCGA-CQ-5332-01A-01D-1683-08	2	170716165	27306265	31	26169	210	2									
STK32B	55351	broad.mit.edu	37	chr4	5170173	5170173	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccccttcctggtcaatCtgtggtgagtgtggctccat	6	12	11	12	0	2	1	1	1	1	0	4	1	4	1	4	3	1	2	4	3	1	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:5170173C>A	ENST00000282908.5	+	3	678	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	STK32B_ENST00000510398.1_Missense_Mutation_p.L39M|STK32B_ENST00000512636.1_Missense_Mutation_p.L39M	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	86	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CCTGGTCAATCTGTGGTGAGT	0.552													5	10					0.014758	0.0149816	1	0	A	5170173	C	A	5170173	3	1	139	1	0	0	0	0	1	0	0	0	15388	912	32	2	266	2	STK32B	4	5170173	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08		5170173	185984103	32	26170											
KIAA1211	57482	broad.mit.edu	37	chr4	57182512	57182512	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccccggctccggagcaCgacaaggcagcaaacaaaat	15	2	10	14	3	0	1	0	0	0	1	1	3	1	2	3	3	3	4	3	3	4	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:57182512C>T	ENST00000504228.1	+	6	2949	c.2844C>T	c.(2842-2844)caC>caT	p.H948H	KIAA1211_ENST00000541073.1_Silent_p.H941H|KIAA1211_ENST00000264229.6_Silent_p.H948H			Q6ZU35	K1211_HUMAN	KIAA1211	948	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCCGGAGCACGACAAGGCAG	0.642													13	17					0	0	0	0	T	57182512	C	T	57182512	2	4	139	1	0	0	0	0	0	0	0	1	8266	535	19	1		1	KIAA1211	4	57182512	Silent	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	52012339	57182512	133971764	33	26171											
RASGEF1B	153020	broad.mit.edu	37	chr4	82369372	82369372	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggacttcttcgtactGgctgagcgcagcaagcttgc	7	10	12	12	2	1	1	0	1	1	0	2	2	1	2	1	2	6	5	1	2	2	4			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:82369372G>A	ENST00000509081.1	-	5	723	c.502C>T	c.(502-504)Cag>Tag	p.Q168*	RASGEF1B_ENST00000264400.2_Nonsense_Mutation_p.Q169*|RASGEF1B_ENST00000335927.7_Nonsense_Mutation_p.Q127*			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	169					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TCTTCGTACTGGCTGAGCGCA	0.463													41	88					0	0	0	0	A	82369372	G	A	82369372	4	1	139	1	0	0	0	0	0	1	0	0	13152	1357	47	4	956	4	RASGEF1B	4	82369372	Nonsense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	25186860	82369372	108784904	34	26172											
NDST4	64579	broad.mit.edu	37	chr4	115891710	115891710	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catccacagaccgaagtaaaAggtcatctccttcatcttcc	12	10	5	14	1	4	1	2	0	2	1	7	2	6	1	4	1	0	1	4	1	3	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:115891710A>T	ENST00000264363.2	-	4	1775	c.1097T>A	c.(1096-1098)cTt>cAt	p.L366H		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	366	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCGAAGTAAAAGGTCATCTCC	0.393													14	22					0	0	0	0	T	115891710	A	T	115891710	3	4	139	1	0	0	0	0	1	0	0	0	10328	72	3	5	1565	5	NDST4	4	115891710	Missense_Mutation	SNP	A	TCGA-CQ-5332-01A-01D-1683-08	33522338	115891710	75262566	35	26173											
FBXW7	55294	broad.mit.edu	37	chr4	153247244	153247244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacacctttaccataaaatCatatgctccactaacaaccc	15	9	1	16	0	1	0	1	0	0	0	2	0	2	0	5	0	4	1	5	0	6	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:153247244C>G	ENST00000281708.4	-	10	2787	c.1558G>C	c.(1558-1560)Gat>Cat	p.D520H	FBXW7_ENST00000393956.3_Missense_Mutation_p.D344H|FBXW7_ENST00000296555.5_Missense_Mutation_p.D402H|FBXW7_ENST00000263981.5_Missense_Mutation_p.D440H|FBXW7_ENST00000603548.1_Missense_Mutation_p.D520H|FBXW7_ENST00000603841.1_Missense_Mutation_p.D520H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	520					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.D520N(3)|p.D520Y(2)|p.D440Y(1)|p.?(1)|p.D281Y(1)|p.D440N(1)|p.D281N(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACCATAAAATCATATGCTCCA	0.433			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								106	44					0	0	0	0	G	153247244	C	G	153247244	3	3	139	1	0	0	0	0	1	0	0	0	5814	826	29	2	577	2	FBXW7	4	153247244	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	37355534	153247244	37907032	36	26174											
PLRG1	5356	broad.mit.edu	37	chr4	155459166	155459166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttaccgtcaatgtgttaaTaatagcattatgaccggaaa	15	13	7	6	2	1	1	1	1	0	0	1	2	1	2	2	1	2	2	2	1	7	6			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:155459166T>C	ENST00000499023.2	-	13	1372	c.1246A>G	c.(1246-1248)Att>Gtt	p.I416V	PLRG1_ENST00000393905.2_Missense_Mutation_p.I416V|PLRG1_ENST00000302078.5_Missense_Mutation_p.I407V	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	416						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AATGTGTTAATAATAGCATTA	0.308													69	20					0	0	0	0	C	155459166	T	C	155459166	3	2	139	1	0	0	0	0	1	0	0	0	12178	1406	49	5	310	5	PLRG1	4	155459166	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	2211922	155459166	35695110	37	26175											
GRIA2	2891	broad.mit.edu	37	chr4	158254041	158254041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaacctaaggaagcaaaGaattgaaatctcccgaaggg	16	5	10	10	2	1	2	0	1	1	1	2	4	1	3	3	2	2	2	3	2	7	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:158254041G>T	ENST00000296526.7	+	7	1278	c.953G>T	c.(952-954)aGa>aTa	p.R318I	GRIA2_ENST00000393815.2_Missense_Mutation_p.R271I|GRIA2_ENST00000449365.1_Missense_Mutation_p.R271I|GRIA2_ENST00000507898.1_Missense_Mutation_p.R271I|GRIA2_ENST00000264426.9_Missense_Mutation_p.R318I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	318					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGGAAGCAAAGAATTGAAATC	0.483													27	52					2.79863e-10	2.97632e-10	1	0	T	158254041	G	T	158254041	3	4	139	1	0	0	0	0	1	0	0	0	6818	942	33	2	979	2	GRIA2	4	158254041	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	2794875	158254041	32900235	38	26176											
ADAMTS16	170690	broad.mit.edu	37	chr5	5319209	5319209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcagccacaagttctaCggcaagcagtgctgcaagac	12	7	11	11	1	1	1	0	0	1	1	1	1	1	1	1	1	6	6	1	1	4	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:5319209C>T	ENST00000274181.7	+	23	3771	c.3633C>T	c.(3631-3633)taC>taT	p.Y1211Y		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1211	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y1211Y(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACAAGTTCTACGGCAAGCAGT	0.522													10	13					0	0	0	0	T	5319209	C	T	5319209	2	4	139	1	0	0	0	0	0	0	0	1	261	547	19	1		1	ADAMTS16	5	5319209	Silent	SNP	C	TCGA-CQ-5332-01A-01D-1683-08		5319209	175596051	39	26177											
SEMA5A	9037	broad.mit.edu	37	chr5	9050539	9050539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctccacaccttttctctTctacgctactggatcttgcc	6	15	4	16	1	3	0	0	0	3	0	5	1	4	1	4	1	4	1	4	1	3	7			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:9050539T>C	ENST00000382496.5	-	21	3541	c.2876A>G	c.(2875-2877)gAa>gGa	p.E959G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	959					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCTTTTCTCTTCTACGCTACT	0.363													10	11					0	0	0	0	C	9050539	T	C	9050539	3	2	139	1	0	0	0	0	1	0	0	0	14124	1783	62	5	360	5	SEMA5A	5	9050539	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	3731330	9050539	171864721	40	26178											
PDE4D	5144	broad.mit.edu	37	chr5	59284494	59284494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagatagggttccattccGcggaaagggtcttcctcttc	9	11	10	11	2	2	1	0	0	2	1	6	2	5	2	3	3	0	1	3	3	3	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:59284494G>A	ENST00000502484.2	-	3	316	c.93C>T	c.(91-93)cgC>cgT	p.R31R	PDE4D_ENST00000546160.1_Silent_p.R31R	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GTTCCATTCCGCGGAAAGGGT	0.428													33	18					0	0	0	0	A	59284494	G	A	59284494	2	1	139	1	0	0	0	0	0	0	0	1	11713	1074	38	1		1	PDE4D	5	59284494	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	50233955	59284494	121630766	41	26179											
PCDHA2	56146	broad.mit.edu	37	chr5	140176805	140176805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagctggtcttactcgcaGcagaggcggcagagggtgtg	7	7	19	8	2	1	2	0	0	1	2	2	3	1	3	0	5	3	4	0	5	1	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:140176805G>T	ENST00000526136.1	+	1	2256	c.2256G>T	c.(2254-2256)caG>caT	p.Q752H	PCDHA2_ENST00000378132.1_Missense_Mutation_p.Q752H|PCDHA2_ENST00000520672.2_Missense_Mutation_p.Q752H|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTACTCGCAGCAGAGGCGGC	0.672													29	16					7.26314e-15	7.84888e-15	1	0	T	140176805	G	T	140176805	3	4	139	1	0	0	0	0	1	0	0	0	11595	962	34	4	2258	4	PCDHA2	5	140176805	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	80892311	140176805	40738455	42	26180											
KCNMB1	3779	broad.mit.edu	37	chr5	169805970	169805970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtccacgctgcctgggatgTaggagcactgtggggagaaa	9	8	16	8	1	0	1	0	0	0	1	1	4	1	3	2	4	2	3	2	4	2	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:169805970T>A	ENST00000274629.4	-	4	756	c.314A>T	c.(313-315)tAc>tTc	p.Y105F	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	105					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	p.Y105F(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GCCTGGGATGTAGGAGCACTG	0.522													14	10					0	0	0	0	A	169805970	T	A	169805970	3	1	139	1	0	0	0	0	1	0	0	0	8127	1638	57	5	265	5	KCNMB1	5	169805970	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	29629165	169805970	11109290	43	26181											
ZNF354A	6940	broad.mit.edu	37	chr5	178139206	178139206	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgagctttgtctaaaaGtttttccacatgtattacat	11	17	7	6	0	1	2	0	2	1	0	2	2	2	2	1	0	2	3	1	0	4	6			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:178139206G>C	ENST00000335815.2	-	5	1870	c.1673C>G	c.(1672-1674)aCt>aGt	p.T558S		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	558					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TTGTCTAAAAGTTTTTCCACA	0.373													49	29					0	0	0	0	C	178139206	G	C	178139206	3	2	139	1	0	0	0	0	1	0	0	0	17959	1029	36	4	148	4	ZNF354A	5	178139206	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	8333236	178139206	2776054	44	26182											
DNAH8	1769	broad.mit.edu	37	chr6	38862507	38862507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaactccttctaaatttCattacatcttcaatcttcga	11	16	2	12	1	5	0	2	0	3	0	7	1	6	0	2	0	3	0	2	0	5	6			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr6:38862507C>T	ENST00000359357.3	+	57	8217	c.7963C>T	c.(7963-7965)Cat>Tat	p.H2655Y	DNAH8_ENST00000449981.2_Missense_Mutation_p.H2872Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.H2619Y					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCTAAATTTCATTACATCTT	0.363													24	8					0	0	0	0	T	38862507	C	T	38862507	3	4	139	1	0	0	0	0	1	0	0	0	4643	826	29	2	8181	2	DNAH8	6	38862507	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08		38862507	132252560	45	26183											
KLHL31	401265	broad.mit.edu	37	chr6	53519694	53519694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttccagtgtaggcatatGcaatgacagtggccaggcct	9	10	12	10	0	0	1	0	1	0	0	1	1	1	1	3	3	1	4	3	3	3	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr6:53519694G>A	ENST00000370905.3	-	2	517	c.377C>T	c.(376-378)gCa>gTa	p.A126V	KLHL31_ENST00000407079.1_Missense_Mutation_p.A126V	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	126	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GTAGGCATATGCAATGACAGT	0.413													55	272					0	0	0	0	A	53519694	G	A	53519694	3	1	139	1	0	0	0	0	1	0	0	0	8437	1319	46	4	1535	4	KLHL31	6	53519694	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	14657187	53519694	117595373	46	26184											
SLC35F1	222553	broad.mit.edu	37	chr6	118596680	118596680	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagccacactctatggtatTtctaacgtctgggaagaata	12	11	10	8	1	3	1	0	0	3	1	3	3	3	3	1	3	2	1	1	3	6	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr6:118596680T>G	ENST00000360388.4	+	5	897	c.696T>G	c.(694-696)atT>atG	p.I232M		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	232					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTATGGTATTTCTAACGTCT	0.443													22	34					0	0	0	0	G	118596680	T	G	118596680	3	3	139	1	0	0	0	0	1	0	0	0	14676	1829	64	5	714	5	SLC35F1	6	118596680	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	65076986	118596680	52518387	47	26185											
RADIL	55698	broad.mit.edu	37	chr7	4917507	4917507	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttcaccagctcacgggcGctggaggtgccggtggccag	5	7	15	14	3	2	0	2	0	0	0	3	1	3	1	4	5	2	2	4	5	0	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:4917507G>A	ENST00000399583.3	-	2	451	c.264C>T	c.(262-264)agC>agT	p.S88S	RADIL_ENST00000536091.1_Silent_p.S88S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	88	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCTCACGGGCGCTGGAGGTGC	0.672													4	42					0	0	0	0	A	4917507	G	A	4917507	2	1	139	1	0	0	0	0	0	0	0	1	13079	1078	38	1		1	RADIL	7	4917507	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08		4917507	154221156	48	26186											
EPDR1	54749	broad.mit.edu	37	chr7	37988563	37988563	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgacattcctcaaaacTccacctttgaagaccagtac	12	11	4	14	0	2	3	1	2	1	1	4	3	4	3	4	0	2	1	4	0	4	4			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:37988563T>A	ENST00000199448.4	+	2	770	c.391T>A	c.(391-393)Tcc>Acc	p.S131T	EPDR1_ENST00000559325.1_Missense_Mutation_p.S251T|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Missense_Mutation_p.S70T|EPDR1_ENST00000476620.1_Missense_Mutation_p.S29T	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	131					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						TCCTCAAAACTCCACCTTTGA	0.512													19	78					0	0	0	0	A	37988563	T	A	37988563	3	1	139	1	0	0	0	0	1	0	0	0	5201	1551	54	5	757	5	EPDR1	7	37988563	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	33071056	37988563	121150100	49	26187											
TNS3	64759	broad.mit.edu	37	chr7	47342762	47342762	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctgcaggcctggactGtggtggctgctgtgtccagg	3	10	17	11	0	0	0	0	0	0	0	1	1	1	1	3	6	2	3	3	6	0	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:47342762G>A	ENST00000398879.1	-	22	3609	c.3243C>T	c.(3241-3243)caC>caT	p.H1081H	TNS3_ENST00000355730.3_Silent_p.H841H|TNS3_ENST00000311160.9_Silent_p.H1081H			Q68CZ2	TENS3_HUMAN	tensin 3	1081						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGCCTGGACTGTGGTGGCTGC	0.667													7	39					0	0	0	0	A	47342762	G	A	47342762	2	1	139	1	0	0	0	0	0	0	0	1	16438	1368	48	4		4	TNS3	7	47342762	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	9354199	47342762	111795901	50	26188											
ABHD11	83451	broad.mit.edu	37	chr7	73152999	73152999	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcggcgccccctcggccGccgctgctgctgctgggtgc	0	7	16	18	5	0	0	0	0	0	0	2	0	0	0	4	4	4	5	4	4	0	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:73152999G>A	ENST00000222800.3	-	1	198	c.129C>T	c.(127-129)ggC>ggT	p.G43G	ABHD11_ENST00000458339.1_Silent_p.G43G|ABHD11_ENST00000395147.4_Silent_p.G43G|ABHD11_ENST00000468998.1_5'UTR|ABHD11_ENST00000437775.2_Silent_p.G43G	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	43							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCCCTCGGCCGCCGCTGCTGC	0.741													9	8					0	0	0	0	A	73152999	G	A	73152999	2	1	139	1	0	0	0	0	0	0	0	1	75	1074	38	1		1	ABHD11	7	73152999	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	25810237	73152999	85985664	51	26189											
PCLO	27445	broad.mit.edu	37	chr7	82581457	82581457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccacatcacagcacacagCtcttctccctgcggttaaat	12	9	5	15	1	3	0	1	0	2	0	4	0	3	0	2	1	4	3	2	1	3	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:82581457C>G	ENST00000423517.2	-	5	9149	c.8812G>C	c.(8812-8814)Gct>Cct	p.A2938P	PCLO_ENST00000333891.8_Missense_Mutation_p.A2938P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2869					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGCACACAGCTCTTCTCCCT	0.433													7	138					0	0	0	0	G	82581457	C	G	82581457	3	3	139	1	0	0	0	0	1	0	0	0	11654	797	28	4	6717	4	PCLO	7	82581457	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	9428458	82581457	76557206	52	26190											
ZNF804B	219578	broad.mit.edu	37	chr7	88963672	88963672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccactcttcaatggcctaCggaacttctgctctttacaa	10	12	5	14	1	4	0	1	0	3	0	4	1	4	1	2	2	4	1	2	2	5	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:88963672C>T	ENST00000333190.4	+	4	1985	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	459						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAATGGCCTACGGAACTTCTG	0.428										HNSCC(36;0.09)			18	44					0	0	0	0	T	88963672	C	T	88963672	3	4	139	1	0	0	0	0	1	0	0	0	18264	536	19	1	1390	1	ZNF804B	7	88963672	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	6382215	88963672	70174991	53	26191											
LMTK2	22853	broad.mit.edu	37	chr7	97821023	97821023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgcggctgcagagccagCgggactcagaggtcgacttt	8	7	14	12	3	1	2	1	0	0	2	2	4	1	3	2	3	4	2	2	3	0	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:97821023C>T	ENST00000297293.5	+	11	1539	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	416					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCAGAGCCAGCGGGACTCAGA	0.537													4	48					0	0	0	0	T	97821023	C	T	97821023	3	4	139	1	0	0	0	0	1	0	0	0	8914	759	27	1	1288	1	LMTK2	7	97821023	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	8857351	97821023	61317640	54	26192											
CUX1	1523	broad.mit.edu	37	chr7	101740740	101740740	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaacttagggaaactcTggaagaatacaacaaggaat	19	6	9	7	0	1	2	0	0	1	2	1	5	1	5	1	3	4	0	1	3	9	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:101740740T>G	ENST00000360264.3	+	5	418	c.398T>G	c.(397-399)cTg>cGg	p.L133R	CUX1_ENST00000437600.4_Missense_Mutation_p.L133R|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.L122R|CUX1_ENST00000549414.2_Missense_Mutation_p.L122R|CUX1_ENST00000546411.2_Missense_Mutation_p.L122R|CUX1_ENST00000550008.2_Missense_Mutation_p.L122R|CUX1_ENST00000547394.2_Missense_Mutation_p.L117R|CUX1_ENST00000393824.3_Missense_Mutation_p.L96R|CUX1_ENST00000292538.4_Missense_Mutation_p.L133R|CUX1_ENST00000292535.7_Missense_Mutation_p.L122R|CUX1_ENST00000560541.1_3'UTR	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	122					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGGGAAACTCTGGAAGAATAC	0.408													5	67					0	0	0	0	G	101740740	T	G	101740740	3	3	139	1	0	0	0	0	1	0	0	0	4096	1580	55	5	450	5	CUX1	7	101740740	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	3919717	101740740	57397923	55	26193											
LMOD2	442721	broad.mit.edu	37	chr7	123302785	123302785	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggaccaaagtctggcaaaGaggaacacctagctcttcac	14	7	9	11	0	3	1	1	0	2	1	3	3	3	3	2	3	2	2	2	3	5	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:123302785G>C	ENST00000458573.2	+	2	1302	c.1145G>C	c.(1144-1146)aGa>aCa	p.R382T	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	382						cytoskeleton	actin binding|tropomyosin binding										GTCTGGCAAAGAGGAACACCT	0.488													39	74					0	0	0	0	C	123302785	G	C	123302785	3	2	139	1	0	0	0	0	1	0	0	0	8912	942	33	2	1151	2	LMOD2	7	123302785	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	21562045	123302785	35835878	56	26194											
PARP12	64761	broad.mit.edu	37	chr7	139741483	139741483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagaaccaaactcatcactCcagtaccaaatccagtcagt	16	7	4	14	0	3	1	3	0	0	1	5	1	5	1	4	0	3	1	4	0	5	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:139741483C>A	ENST00000263549.3	-	6	2016	c.1143G>T	c.(1141-1143)tgG>tgT	p.W381C	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	381	WWE 2.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ACTCATCACTCCAGTACCAAA	0.512													63	110					1.3268e-25	1.49824e-25	1	0	A	139741483	C	A	139741483	3	1	139	1	0	0	0	0	1	0	0	0	11528	856	30	2	990	2	PARP12	7	139741483	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	16438698	139741483	19397180	57	26195											
WEE2	494551	broad.mit.edu	37	chr7	141408764	141408764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtgcatgagctcgacacatCttcggaaaaagacaaagaaa	17	6	9	9	3	1	3	0	1	1	2	3	5	1	4	0	1	2	2	0	1	4	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:141408764C>T	ENST00000397541.2	+	1	612	c.206C>T	c.(205-207)tCt>tTt	p.S69F	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	69					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CTCGACACATCTTCGGAAAAA	0.522													12	179					0	0	0	0	T	141408764	C	T	141408764	3	4	139	1	0	0	0	0	1	0	0	0	17441	913	32	2	208	2	WEE2	7	141408764	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	1667281	141408764	17729899	58	26196											
PRSS37	136242	broad.mit.edu	37	chr7	141537030	141537030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggggcctccaggttctgcCgcaagtcagggtgtcggcct	4	8	16	13	3	2	0	1	0	1	0	4	0	3	0	4	5	1	2	4	5	1	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:141537030C>T	ENST00000350549.3	-	4	820	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	PRSS37_ENST00000438520.1_Missense_Mutation_p.R150Q	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	150	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CAGGTTCTGCCGCAAGTCAGG	0.458													32	32					0	0	0	0	T	141537030	C	T	141537030	3	4	139	1	0	0	0	0	1	0	0	0	12705	652	23	1	266	1	PRSS37	7	141537030	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	128266	141537030	17601633	59	26197											
TRPV6	55503	broad.mit.edu	37	chr7	142575027	142575027	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcgatgtgcagtgcagTctgacctggcccagagacag	11	6	13	11	1	1	2	0	1	1	1	1	4	1	2	2	1	4	2	2	1	1	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:142575027T>A	ENST00000359396.3	-	4	600	c.355A>T	c.(355-357)Act>Tct	p.T119S	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	119					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGCAGTGCAGTCTGACCTGGC	0.617													8	70					0	0	0	0	A	142575027	T	A	142575027	3	1	139	1	0	0	0	0	1	0	0	0	16695	1667	58	5	1870	5	TRPV6	7	142575027	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	1037997	142575027	16563636	60	26198											
IMPA1	3612	broad.mit.edu	37	chr8	82572902	82572902	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctgttccaacactccggatCctaacaaatagaatttagaa	15	10	6	10	1	0	2	0	0	0	2	3	3	3	3	3	1	2	2	3	1	7	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:82572902C>G	ENST00000256108.5	-	8	1032	c.566_splice	c.e8-1	p.G189_splice	IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000449740.2_Splice_Site_p.G248_splice|IMPA1_ENST00000311489.4_Splice_Site_p.G153_splice	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	189					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	CACTCCGGATCCTAACAAATA	0.378													9	32					0	0	0	0	G	82572902	C	G	82572902	5	3	139	1	0	0	0	0	0	0	1	0	7775	869	30	2	274	2	IMPA1	8	82572902	Splice_Site	SNP	C	TCGA-CQ-5332-01A-01D-1683-08		82572902	63791120	61	26199											
CNBD1	168975	broad.mit.edu	37	chr8	87951834	87951834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgttcagggaactcaatGaaggcaaagaggaaagtcaa	16	8	11	6	0	4	2	3	1	1	1	4	4	4	4	0	3	1	2	0	3	6	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:87951834G>A	ENST00000518476.1	+	4	334	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	95										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GGAACTCAATGAAGGCAAAGA	0.338													11	83					0	0	0	0	A	87951834	G	A	87951834	3	1	139	1	0	0	0	0	1	0	0	0	3621	1291	45	2	297	2	CNBD1	8	87951834	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	5378932	87951834	58412188	62	26200											
RIMS2	9699	broad.mit.edu	37	chr8	105025791	105025791	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgatacaaacctcatgAggtcgatgccttcattaatg	11	12	8	10	1	2	2	2	2	0	0	4	3	3	2	3	1	3	0	3	1	3	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:105025791A>T	ENST00000507740.1	+	16	2844	c.2608A>T	c.(2608-2610)Agg>Tgg	p.R870W	RIMS2_ENST00000262231.10_Missense_Mutation_p.R895W|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1056W	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1118	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAACCTCATGAGGTCGATGCC	0.498										HNSCC(12;0.0054)			28	92					0	0	0	0	T	105025791	A	T	105025791	3	4	139	1	0	0	0	0	1	0	0	0	13453	295	11	5	3432	5	RIMS2	8	105025791	Missense_Mutation	SNP	A	TCGA-CQ-5332-01A-01D-1683-08	17073957	105025791	41338231	63	26201											
ADCY8	114	broad.mit.edu	37	chr8	131964216	131964216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttccaggacaacaaacCgggggagcacagaaagcacg	15	4	11	11	2	1	1	1	0	0	1	2	3	2	3	2	3	4	2	2	3	3	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:131964216C>T	ENST00000286355.5	-	3	3231	c.1139G>A	c.(1138-1140)cGg>cAg	p.R380Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R380Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	380					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GACAACAAACCGGGGGAGCAC	0.547										HNSCC(32;0.087)			41	33					0	0	0	0	T	131964216	C	T	131964216	3	4	139	1	0	0	0	0	1	0	0	0	300	652	23	1	2680	1	ADCY8	8	131964216	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	26938425	131964216	14399806	64	26202											
COL22A1	169044	broad.mit.edu	37	chr8	139706770	139706770	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtggtccagtgggtcccTgaggccccaattctccagga	6	8	13	14	1	1	1	0	1	1	0	4	2	3	2	6	5	0	0	6	5	1	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:139706770T>A	ENST00000303045.6	-	34	3127	c.2681A>T	c.(2680-2682)cAg>cTg	p.Q894L	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.Q894L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	894	Collagen-like 7.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGTGGGTCCCTGAGGCCCCAA	0.612										HNSCC(7;0.00092)			39	38					0	0	0	0	A	139706770	T	A	139706770	3	1	139	1	0	0	0	0	1	0	0	0	3711	1580	55	5	2327	5	COL22A1	8	139706770	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	7742554	139706770	6657252	65	26203											
ZNF7	7553	broad.mit.edu	37	chr8	146054860	146054860	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgctggtgtgtgtcctttCaggaggtggtaacatttggc	5	14	16	6	0	1	0	1	0	0	0	2	1	2	1	1	6	2	2	1	6	1	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:146054860C>T	ENST00000446747.2	+	3	130	c.34C>T	c.(34-36)Cag>Tag	p.Q12*	ZNF7_ENST00000532393.1_Intron|ZNF7_ENST00000528372.1_Intron|ZNF7_ENST00000325241.6_Intron|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000325217.5_Nonsense_Mutation_p.Q12*|ZNF7_ENST00000528130.1_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	0	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TGTGTCCTTTCAGGAGGTGGT	0.617													152	105					0	0	0	0	T	146054860	C	T	146054860	4	4	139	1	0	0	0	0	0	1	0	0	18197	841	29	2		2	ZNF7	8	146054860	Nonsense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	6348090	146054860	309162	66	26204											
UHRF2	115426	broad.mit.edu	37	chr9	6460622	6460622	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcaaggatcttagaccaCgagctagaaccattttgaaa	15	10	8	8	1	2	3	1	1	1	2	2	5	2	4	2	1	2	1	2	1	5	4			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:6460622C>T	ENST00000276893.5	+	4	862	c.694C>T	c.(694-696)Cga>Tga	p.R232*		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	232	Interaction with PCNP.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TCTTAGACCACGAGCTAGAAC	0.373													41	29					0	0	0	0	T	6460622	C	T	6460622	4	4	139	1	0	0	0	0	0	1	0	0	17066	528	19	1	708	1	UHRF2	9	6460622	Nonsense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08		6460622	134752809	67	26205											
PRKACG	5568	broad.mit.edu	37	chr9	71628058	71628058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccccagggcctgtgtacttCgggatgaagggagcttccac	7	9	13	12	1	0	1	0	1	0	0	3	3	2	3	4	3	2	2	4	3	2	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:71628058C>T	ENST00000377276.2	-	1	981	c.951G>A	c.(949-951)ccG>ccA	p.P317P		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	317	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CTGTGTACTTCGGGATGAAGG	0.532													46	24					0	0	0	0	T	71628058	C	T	71628058	2	4	139	1	0	0	0	0	0	0	0	1	12579	871	31	1		1	PRKACG	9	71628058	Silent	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	65167436	71628058	69585373	68	26206											
TLE1	7088	broad.mit.edu	37	chr9	84202720	84202720	+	Frame_Shift_Del	DEL	C	C	-																															aaatgtcaatacagctggctCcgtctgtgtggccctggaat																										TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:84202720delC	ENST00000376499.3	-	17	2917	c.1853delG	c.(1852-1854)gafs	p.G618fs		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	618					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ACAGCTGGCTCCGTCTGTGTG	0.502													22	42	---	---	---	---					-	84202720	C	-	84202720	7	5	139	1	0	1	0	1	0	0	0	0	16032	855	30	0	475	0	TLE1	9	84202720	Frame_Shift_Del	DEL	C	TCGA-CQ-5332-01A-01D-1683-08	12574662	84202720	57010711	69	26207											
PAPPA	5069	broad.mit.edu	37	chr9	118973944	118973944	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtcttgaacccatctttcTatggcatgcctgggcacacc	7	13	8	13	0	3	1	0	1	3	0	3	1	3	1	3	2	2	2	3	2	2	4			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:118973944T>C	ENST00000328252.3	+	4	2020	c.1651T>C	c.(1651-1653)Tat>Cat	p.Y551H	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	551	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCCATCTTTCTATGGCATGCC	0.517													44	71					0	0	0	0	C	118973944	T	C	118973944	3	2	139	1	0	0	0	0	1	0	0	0	11503	1522	53	5	1665	5	PAPPA	9	118973944	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	34771224	118973944	22239487	70	26208											
FPGS	2356	broad.mit.edu	37	chr9	130566689	130566689	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctggcacggagtgggctGcaggtaaggtagagagggcc	9	6	18	8	1	0	1	0	0	0	1	0	3	0	2	2	6	2	5	2	6	3	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:130566689G>T	ENST00000373245.1	+	2	314	c.264G>T	c.(262-264)ctG>ctT	p.L88L	FPGS_ENST00000373225.3_Silent_p.L38L|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Silent_p.L88L|FPGS_ENST00000373247.2_Silent_p.L88L			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	88					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)	GGAGTGGGCTGCAGGTAAGGT	0.607													28	35					3.69857e-22	4.15314e-22	1	0	T	130566689	G	T	130566689	2	4	139	1	0	0	0	0	0	0	0	1	6083	1306	46	4		4	FPGS	9	130566689	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	11592745	130566689	10646742	71	26209											
WDR34	89891	broad.mit.edu	37	chr9	131396039	131396039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctcaggccgccacctctGctgccaggcagtccaggtcc	5	6	10	20	1	2	0	1	0	1	0	4	0	4	0	8	3	2	2	8	3	0	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:131396039G>T	ENST00000372715.2	-	9	1655	c.1595C>A	c.(1594-1596)gCa>gAa	p.A532E		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	532						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGCCACCTCTGCTGCCAGGCA	0.627													76	125					3.27973e-32	3.767e-32	1	0	T	131396039	G	T	131396039	3	4	139	1	0	0	0	0	1	0	0	0	17384	1319	46	4	19	4	WDR34	9	131396039	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	829350	131396039	9817392	72	26210											
ABL1	25	broad.mit.edu	37	chr9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-																															acttgttcagcgccttgatcAagaagaagaagaagacagcc																										TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)del	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|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|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|SH3 domain 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)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								7	168	---	---	---	---					-	133759492	AAG	-	133759490	7	5	139	1	0	1	0	1	0	0	0	0	92	131	5	0	1995	0	ABL1	9	133759490	In_Frame_Del	DEL	AAG	TCGA-CQ-5332-01A-01D-1683-08	2363451	133759490	7453941	73	26211											
MLLT10	8028	broad.mit.edu	37	chr10	21823717	21823717	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgacgggcacggctgcagCgtcgcggtgcatcaaggtaa	8	6	16	11	6	1	0	1	0	0	0	2	1	1	0	0	4	4	5	0	4	2	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:21823717C>G	ENST00000377072.3	+	2	492	c.144C>G	c.(142-144)agC>agG	p.S48R	MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000307729.7_Missense_Mutation_p.S48R|MLLT10_ENST00000377100.3_Missense_Mutation_p.S48R|MLLT10_ENST00000377091.2_Missense_Mutation_p.S48R|MLLT10_ENST00000446906.2_Missense_Mutation_p.S48R|MLLT10_ENST00000377059.3_Missense_Mutation_p.S48R	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	48					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ACGGCTGCAGCGTCGCGGTGC	0.682			T	"MLL, PICALM, CDK6"	AL								4	41					0	0	0	0	G	21823717	C	G	21823717	3	3	139	1	0	0	0	0	1	0	0	0	9695	767	27	3	146	3	MLLT10	10	21823717	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08		21823717	113711030	74	26212											
MYO3A	53904	broad.mit.edu	37	chr10	26500926	26500926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaccgccgtcggaaggCgctggagcctgcggggcagc	6	4	17	14	5	1	0	1	0	0	0	2	2	1	2	3	5	3	2	3	5	1	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:26500926C>T	ENST00000543632.1	+	17	1991	c.1931C>T	c.(1930-1932)gCg>gTg	p.A644V	MYO3A_ENST00000265944.5_3'UTR			Q8NEV4	MYO3A_HUMAN	myosin IIIA	0	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CGTCGGAAGGCGCTGGAGCCT	0.687													3	13					0	0	0	0	T	26500926	C	T	26500926	3	4	139	1	0	0	0	0	1	0	0	0	10146	783	27	1		1	MYO3A	10	26500926	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	4677209	26500926	109033821	75	26213											
ITGB1	3688	broad.mit.edu	37	chr10	33217097	33217097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actttttacattctccaaatCgtctttcattgagtaagaca	12	16	4	9	1	3	2	1	1	2	1	5	2	3	2	1	0	1	1	1	0	3	7			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:33217097C>T	ENST00000396033.2	-	5	607	c.472G>A	c.(472-474)Gat>Aat	p.D158N	ITGB1_ENST00000374956.4_Missense_Mutation_p.D158N|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000423113.1_Missense_Mutation_p.D158N|ITGB1_ENST00000302278.3_Missense_Mutation_p.D158N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	158	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTCTCCAAATCGTCTTTCATT	0.393													42	83					0	0	0	0	T	33217097	C	T	33217097	3	4	139	1	0	0	0	0	1	0	0	0	7943	884	31	1	2210	1	ITGB1	10	33217097	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	6716171	33217097	102317650	76	26214											
NOC3L	64318	broad.mit.edu	37	chr10	96097619	96097620	+	Frame_Shift_Ins	INS	-	-	A																															gcaaatctctgcactatgggINSatgataatgcctctgaaggg																										TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:96097619_96097620insA	ENST00000371361.3	-	19	2203_2204	c.2103_2104insT	c.(2101-2106)caccatfs	p.H702fs	NOC3L_ENST00000543788.1_Frame_Shift_Ins_p.H440fs|NOC3L_ENST00000371350.1_Frame_Shift_Ins_p.H702fs	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	702						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TGCACTATGGGATGATAATGCC	0.431													11	41	---	---	---	---					A	96097620	-	A	96097619	7	5	139	1	0	1	1	0	0	0	0	0	10584	1174	41	0	310	0	NOC3L	10	96097619	Frame_Shift_Ins	INS	-	TCGA-CQ-5332-01A-01D-1683-08	62880522	96097619	39437128	77	26215											
NRAP	4892	broad.mit.edu	37	chr10	115393949	115393949	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctgtacttcaacttgtcGatgctctgcctataattggc	8	14	9	10	1	2	0	1	0	1	0	3	2	2	0	1	1	5	3	1	1	4	6	rs141308047		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:115393949G>A	ENST00000369358.4	-	15	1693	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	NRAP_ENST00000360478.3_Silent_p.I448I|NRAP_ENST00000369360.3_Silent_p.I448I|NRAP_ENST00000359988.3_Silent_p.I483I			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	483						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCAACTTGTCGATGCTCTGCC	0.458													50	53					0	0	0	0	A	115393949	G	A	115393949	2	1	139	1	0	0	0	0	0	0	0	1	10709	1048	37	1		1	NRAP	10	115393949	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	19296330	115393949	20140798	78	26216											
C10orf137	26098	broad.mit.edu	37	chr10	127438083	127438083	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagatgctccctgcgaaCtgcttagagtacagctagag	12	9	11	9	1	0	4	0	1	0	3	1	5	1	4	1	0	6	4	1	0	5	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:127438083C>T	ENST00000337623.3	+	21	3229	c.3124C>T	c.(3124-3126)Ctg>Ttg	p.L1042L	RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|C10orf137_ENST00000356792.4_Silent_p.L1076L|RP11-383C5.7_ENST00000602030.1_RNA	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	1076					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCCCTGCGAACTGCTTAGAGT	0.443													29	25					0	0	0	0	T	127438083	C	T	127438083	2	4	139	1	0	0	0	0	0	0	0	1	1604	564	20	4		4	C10orf137	10	127438083	Silent	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	12044134	127438083	8096664	79	26217											
RAG2	5897	broad.mit.edu	37	chr11	36614176	36614176	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggatttcttggcaggagTcaagatttttccagaacctt	12	13	9	7	0	2	2	1	0	1	2	3	4	3	4	2	3	1	1	2	3	3	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:36614176T>G	ENST00000311485.3	-	2	1704	c.1543A>C	c.(1543-1545)Act>Cct	p.T515P		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	515					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTGGCAGGAGTCAAGATTTTT	0.373									Familial Hemophagocytic Lymphohistiocytosis				17	15					0	0	0	0	G	36614176	T	G	36614176	3	3	139	1	0	0	0	0	1	0	0	0	13087	1667	58	5	44	5	RAG2	11	36614176	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08		36614176	98392340	80	26218											
OR5L2	26338	broad.mit.edu	37	chr11	55594934	55594934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaataattgtgccaaaGatgttggctaatatctttaa	13	15	6	7	0	2	1	1	0	1	1	3	1	3	1	2	1	1	2	2	1	6	7			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:55594934G>T	ENST00000378397.1	+	1	240	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTGTGCCAAAGATGTTGGCTA	0.463										HNSCC(27;0.073)			55	139					1.54886e-18	1.72956e-18	1	0	T	55594934	G	T	55594934	3	4	139	1	0	0	0	0	1	0	0	0	11242	933	33	2	242	2	OR5L2	11	55594934	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	18980758	55594934	79411582	81	26219											
OR5AR1	219493	broad.mit.edu	37	chr11	56431630	56431630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctggtctagtgagtttaGtagcccacactaccctcacc	8	11	9	13	0	2	1	1	1	1	0	2	1	2	1	3	2	2	3	3	2	4	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:56431630G>T	ENST00000302969.2	+	1	493	c.469G>T	c.(469-471)Gta>Tta	p.V157L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						AGTGAGTTTAGTAGCCCACAC	0.512													64	70					3.37043e-27	3.82744e-27	1	0	T	56431630	G	T	56431630	3	4	139	1	0	0	0	0	1	0	0	0	11216	1029	36	4	471	4	OR5AR1	11	56431630	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	836696	56431630	78574886	82	26220											
GRIK4	2900	broad.mit.edu	37	chr11	120776051	120776051	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagatggaaggcaatgAccgctacgagggcttctgtg	10	7	15	9	2	1	2	0	1	1	1	1	5	1	3	2	4	1	3	2	4	3	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:120776051A>G	ENST00000527524.2	+	13	1612	c.1325A>G	c.(1324-1326)gAc>gGc	p.D442G	GRIK4_ENST00000438375.2_Missense_Mutation_p.D442G			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	442					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GAAGGCAATGACCGCTACGAG	0.537													72	92					0	0	0	0	G	120776051	A	G	120776051	3	3	139	1	0	0	0	0	1	0	0	0	6826	275	10	5	1367	5	GRIK4	11	120776051	Missense_Mutation	SNP	A	TCGA-CQ-5332-01A-01D-1683-08	64344421	120776051	14230465	83	26221											
TECTA	7007	broad.mit.edu	37	chr11	121008284	121008284	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcagccagtgtgtcacGcggagtgagtgtggctgcaa	7	8	17	9	2	1	1	1	1	0	0	1	2	1	2	1	3	2	3	1	3	1	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:121008284G>A	ENST00000392793.1	+	11	3367	c.3096G>A	c.(3094-3096)acG>acA	p.T1032T	TECTA_ENST00000264037.2_Silent_p.T1032T			O75443	TECTA_HUMAN	tectorin alpha	1032	TIL 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGTGTGTCACGCGGAGTGAGT	0.577													21	28					0	0	0	0	A	121008284	G	A	121008284	2	1	139	1	0	0	0	0	0	0	0	1	15841	1074	38	1		1	TECTA	11	121008284	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	232233	121008284	13998232	84	26222											
OR8B8	26493	broad.mit.edu	37	chr11	124310617	124310617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttacagatggccacatagCggtcatacgccattgctgac	10	9	11	11	2	1	2	1	1	0	1	1	2	1	2	2	3	4	2	2	3	3	4	rs144609364	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:124310617C>T	ENST00000328064.2	-	1	437	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGCCACATAGCGGTCATACGC	0.488													10	40					0	0	0	0	T	124310617	C	T	124310617	3	4	139	1	0	0	0	0	1	0	0	0	11301	768	27	1	573	1	OR8B8	11	124310617	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	3302333	124310617	10695899	85	26223											
KCNJ1	3758	broad.mit.edu	37	chr11	128709340	128709340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagtcctgctggagaaGggtctccgctgccatgtgga	8	10	13	10	1	2	1	1	0	1	1	4	3	3	2	3	3	2	2	3	3	2	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:128709340G>A	ENST00000392665.2	-	2	943	c.799C>T	c.(799-801)Ctt>Ttt	p.L267F	KCNJ1_ENST00000392664.2_Missense_Mutation_p.L286F|KCNJ1_ENST00000440599.2_Missense_Mutation_p.L267F|KCNJ1_ENST00000324036.3_Missense_Mutation_p.L267F|KCNJ1_ENST00000392666.1_Missense_Mutation_p.L267F	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	286					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TGCTGGAGAAGGGTCTCCGCT	0.478													29	60					0	0	0	0	A	128709340	G	A	128709340	3	1	139	1	0	0	0	0	1	0	0	0	8096	1000	35	4	323	4	KCNJ1	11	128709340	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	4398723	128709340	6297176	86	26224											
AKAP3	10566	broad.mit.edu	37	chr12	4737262	4737262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcaggcctttcctgccctCgaaacctctttctctcccga	6	12	5	18	2	3	0	1	0	2	0	7	2	5	0	5	1	2	0	5	1	1	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:4737262C>T	ENST00000545990.2	-	5	1330	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	AKAP3_ENST00000228850.1_Missense_Mutation_p.R269Q	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	269					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.R269L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTCCTGCCCTCGAAACCTCTT	0.443													61	39					0	0	0	0	T	4737262	C	T	4737262	3	4	139	1	0	0	0	0	1	0	0	0	452	884	31	1	1763	1	AKAP3	12	4737262	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08		4737262	129114633	87	26225											
GALNT8	26290	broad.mit.edu	37	chr12	4835920	4835920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcccaggacctcttccGgaagtttggttacaacgcgt	7	9	13	12	4	1	0	0	0	1	0	2	2	2	2	3	5	2	2	3	5	3	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:4835920G>A	ENST00000252318.2	+	2	771	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	145						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GACCTCTTCCGGAAGTTTGGT	0.562													17	64					0	0	0	0	A	4835920	G	A	4835920	3	1	139	1	0	0	0	0	1	0	0	0	6268	1116	39	1	440	1	GALNT8	12	4835920	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	98658	4835920	129015975	88	26226											
MANSC1	54682	broad.mit.edu	37	chr12	12483418	12483418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgtagaaatgagggtcGtgggaggctgagaagtgaca	14	7	16	4	1	0	4	0	3	0	2	1	6	0	5	0	3	1	2	0	3	4	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:12483418G>A	ENST00000535902.1	-	4	1402	c.839C>T	c.(838-840)aCg>aTg	p.T280M	MANSC1_ENST00000545735.1_Missense_Mutation_p.T199M|MANSC1_ENST00000396349.3_Missense_Mutation_p.T246M			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	280	Thr-rich.					integral to membrane		p.T281fs*1(1)|p.T280M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AATGAGGGTCGTGGGAGGCTG	0.547													59	45					0	0	0	0	A	12483418	G	A	12483418	3	1	139	1	0	0	0	0	1	0	0	0	9293	1145	40	1	460	1	MANSC1	12	12483418	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	7647498	12483418	121368477	89	26227											
SLCO1B3	28234	broad.mit.edu	37	chr12	21028240	21028240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtttccttgtgtctggaCtattttccattatttcttcc	4	22	6	9	0	2	0	0	0	2	0	5	1	5	1	3	2	0	1	3	2	2	9			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:21028240C>A	ENST00000381545.3	+	9	1018	c.799C>A	c.(799-801)Cta>Ata	p.L267I	LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.L267I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.L267I|LST3_ENST00000540229.1_Missense_Mutation_p.L267I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	267					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGTGTCTGGACTATTTTCCAT	0.378													22	172					1.96292e-10	2.10988e-10	1	0	A	21028240	C	A	21028240	3	1	139	1	0	0	0	0	1	0	0	0	14812	564	20	4	825	4	SLCO1B3	12	21028240	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	8544822	21028240	112823655	90	26228											
CAPRIN2	65981	broad.mit.edu	37	chr12	30881780	30881780	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacatgggagtggtccaTgacttggtggtgttctgttc	6	14	13	8	0	2	1	1	1	1	0	4	2	3	2	1	4	0	2	1	4	0	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:30881780T>C	ENST00000251071.5	-	8	2334	c.1584A>G	c.(1582-1584)tcA>tcG	p.S528S	CAPRIN2_ENST00000395805.2_Silent_p.S528S|CAPRIN2_ENST00000417045.1_Silent_p.S528S|CAPRIN2_ENST00000308433.5_Silent_p.S195S|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Silent_p.S528S	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	528					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAGTGGTCCATGACTTGGTGG	0.453													67	190					0	0	0	0	C	30881780	T	C	30881780	2	2	139	1	0	0	0	0	0	0	0	1	2661	1451	51	5		5	CAPRIN2	12	30881780	Silent	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	9853540	30881780	102970115	91	26229											
LRRK2	120892	broad.mit.edu	37	chr12	40681307	40681307	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgactcttctatggacagTgtgtttgctcaaagtgatga	9	14	10	8	0	3	3	1	3	2	0	3	4	3	4	1	1	1	2	1	1	2	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:40681307T>C	ENST00000298910.7	+	20	2713	c.2655T>C	c.(2653-2655)agT>agC	p.S885S	LRRK2_ENST00000343742.2_Silent_p.S885S	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	885					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTATGGACAGTGTGTTTGCTC	0.373													8	47					0	0	0	0	C	40681307	T	C	40681307	2	2	139	1	0	0	0	0	0	0	0	1	9097	1693	59	5		5	LRRK2	12	40681307	Silent	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	9799527	40681307	93170588	92	26230											
KRT81	3887	broad.mit.edu	37	chr12	52685196	52685196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcggccgggccgcggcccGcaggccgagatgcagctgaa	7	2	17	15	6	0	2	0	1	0	1	0	3	0	2	4	4	3	3	4	4	1	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:52685196G>A	ENST00000327741.5	-	1	122	c.54C>T	c.(52-54)tgC>tgT	p.C18C	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	18	Head.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCGCGGCCCGCAGGCCGAGA	0.692													14	17					0	0	0	0	A	52685196	G	A	52685196	2	1	139	1	0	0	0	0	0	0	0	1	8547	1079	38	1		1	KRT81	12	52685196	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	12003889	52685196	81166699	93	26231											
PCBP2	5094	broad.mit.edu	37	chr12	53849719	53849719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattgtcctgagagaattatCactttggctggacccactaa	12	12	8	9	0	1	2	1	1	0	1	2	4	2	3	2	2	0	1	2	2	4	4			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:53849719C>T	ENST00000603815.1	+	5	527	c.177C>T	c.(175-177)atC>atT	p.I59I	PCBP2_ENST00000549863.1_Silent_p.I59I|PCBP2_ENST00000546463.1_Silent_p.I59I|PCBP2_ENST00000548933.1_Silent_p.I59I|PCBP2_ENST00000541275.1_Silent_p.I59I|PCBP2_ENST00000552296.2_Silent_p.I59I|PCBP2_ENST00000552819.1_Silent_p.I59I|PCBP2_ENST00000359462.5_Silent_p.I59I|PCBP2_ENST00000359282.5_Silent_p.I59I|PCBP2_ENST00000455667.3_Silent_p.I59I|PCBP2_ENST00000447282.1_Silent_p.I59I|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000439930.3_Silent_p.I59I|PCBP2_ENST00000437231.1_Silent_p.I59I	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	59	KH 1.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AGAGAATTATCACTTTGGCTG	0.403													36	101					0	0	0	0	T	53849719	C	T	53849719	2	4	139	1	0	0	0	0	0	0	0	1	11572	816	29	2		2	PCBP2	12	53849719	Silent	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	1164523	53849719	80002176	94	26232											
ITGA5	3678	broad.mit.edu	37	chr12	54797970	54797970	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgcagctccgctcctcTgggttgaacatggcggggaa	8	8	14	11	2	1	1	0	1	1	0	3	2	3	2	2	4	4	5	2	4	3	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:54797970T>A	ENST00000293379.4	-	15	1785	c.1524A>T	c.(1522-1524)ccA>ccT	p.P508P	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	508					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCGCTCCTCTGGGTTGAACA	0.612											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	43					0	0	0	0	A	54797970	T	A	54797970	2	1	139	1	0	0	0	0	0	0	0	1	7932	1567	55	5		5	ITGA5	12	54797970	Silent	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	948251	54797970	79053925	95	26233											
LRP1	4035	broad.mit.edu	37	chr12	57588203	57588203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcttccagccctgcgagcGgacctcactctgctacgcac	6	8	9	18	3	3	0	1	0	2	0	4	2	4	1	3	1	5	3	3	1	1	2	rs146710883	by1000genomes	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:57588203G>T	ENST00000243077.3	+	49	8451	c.7985G>T	c.(7984-7986)cGg>cTg	p.R2662L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2662	LDL-receptor class A 14.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCTGCGAGCGGACCTCACTC	0.662													48	52					1.56793e-16	1.73161e-16	1	0	T	57588203	G	T	57588203	3	4	139	1	0	0	0	0	1	0	0	0	9015	1116	39	3	8179	3	LRP1	12	57588203	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	2790233	57588203	76263692	96	26234											
PTPRB	5787	broad.mit.edu	37	chr12	70954686	70954686	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtcgtgttccgattggaCcccctgagatgactcacaga	8	11	10	12	2	2	3	1	2	1	2	4	6	3	4	3	1	0	1	3	1	0	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:70954686C>A	ENST00000334414.6	-	17	4241	c.4197G>T	c.(4195-4197)ggG>ggT	p.G1399G	PTPRB_ENST00000451516.2_Silent_p.G1091G|PTPRB_ENST00000551525.1_Silent_p.G1398G|PTPRB_ENST00000261266.5_Silent_p.G1181G|PTPRB_ENST00000550857.1_Silent_p.G1091G|PTPRB_ENST00000550358.1_Silent_p.G1311G|PTPRB_ENST00000538708.1_Silent_p.G1091G	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1181	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCGATTGGACCCCCTGAGAT	0.458													7	71					1	1	1	0	A	70954686	C	A	70954686	2	1	139	1	0	0	0	0	0	0	0	1	12878	494	18	4		4	PTPRB	12	70954686	Silent	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	13366483	70954686	62897209	97	26235											
TRHDE	29953	broad.mit.edu	37	chr12	72866930	72866930	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactactttgaatttgttggTacagactacctctatcctgg	9	15	7	10	0	1	2	0	1	1	1	2	2	2	2	2	2	3	2	2	2	5	7			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:72866930T>C	ENST00000261180.4	+	5	1515	c.1419T>C	c.(1417-1419)ggT>ggC	p.G473G		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	473					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AATTTGTTGGTACAGACTACC	0.423													44	56					0	0	0	0	C	72866930	T	C	72866930	2	2	139	1	0	0	0	0	0	0	0	1	16574	1625	57	5		5	TRHDE	12	72866930	Silent	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	1912244	72866930	60984965	98	26236											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100441863	100441865	+	In_Frame_Del	DEL	AAT	AAT	-																															tttctatgtggcactgcagaAatccatttttttctgcaagt																										TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:100441863_100441865delAAT	ENST00000279907.7	-	18	4040_4042	c.3828_3830delATT	c.(3826-3831)ggt>gg	p.GF1276del	UHRF1BP1L_ENST00000545232.2_In_Frame_Del_p.GF926del	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1276										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GCACTGCAGAAATCCATTTTTTT	0.365													16	29	---	---	---	---					-	100441865	AAT	-	100441863	7	5	139	1	0	1	0	1	0	0	0	0	17065	14	1	0	580	0	UHRF1BP1L	12	100441863	In_Frame_Del	DEL	AAT	TCGA-CQ-5332-01A-01D-1683-08	27574933	100441863	33410032	99	26237											
PAH	5053	broad.mit.edu	37	chr12	103248914	103248914	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccctgatgtggacttacTctgcaggaactgagaaacgt	11	10	11	9	1	1	3	0	3	1	1	1	6	1	5	1	2	4	1	1	2	3	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:103248914T>A	ENST00000553106.1	-	6	1178	c.706_splice	c.e6+1	p.T236_splice	PAH_ENST00000307000.2_Splice_Site_p.T231_splice	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	236					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GTGGACTTACTCTGCAGGAAC	0.468													18	37					0	0	0	0	A	103248914	T	A	103248914	5	1	139	1	0	0	0	0	0	0	1	0	11465	1565	54	5	684	5	PAH	12	103248914	Splice_Site	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	2807051	103248914	30602981	100	26238											
RFC5	5985	broad.mit.edu	37	chr12	118456893	118456893	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagggttgaaaaataccggCcacagaccctgaatgatctc	13	8	9	11	1	2	4	1	3	1	1	3	4	2	4	3	2	1	1	3	2	4	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:118456893C>A	ENST00000392542.2	+	3	552	c.19C>A	c.(19-21)Cca>Aca	p.P7T	RFC5_ENST00000454402.2_Missense_Mutation_p.P28T|RFC5_ENST00000229043.3_5'UTR	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	28					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAAATACCGGCCACAGACCCT	0.373													30	39					2.65835e-16	2.91982e-16	1	0	A	118456893	C	A	118456893	3	1	139	1	0	0	0	0	1	0	0	0	13330	739	26	4	94	4	RFC5	12	118456893	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	15207979	118456893	15395002	101	26239											
SACS	26278	broad.mit.edu	37	chr13	23905170	23905170	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtcttgtggctctctctaCcagagaaaagaggaggaatg	13	9	12	7	0	3	2	0	0	3	2	4	5	3	4	1	3	1	1	1	3	5	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr13:23905170C>G	ENST00000382298.3	-	10	13433	c.12845G>C	c.(12844-12846)gGt>gCt	p.G4282A	SACS_ENST00000402364.1_Missense_Mutation_p.G3532A|SACS_ENST00000382292.3_Missense_Mutation_p.G4282A	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4282					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCTCTCTCTACCAGAGAAAAG	0.478													46	55					0	0	0	0	G	23905170	C	G	23905170	3	3	139	1	0	0	0	0	1	0	0	0	13889	507	18	4	898	4	SACS	13	23905170	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08		23905170	91264708	102	26240											
SACS	26278	broad.mit.edu	37	chr13	23915744	23915744	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgaacaatcaattctctGccaggccagaatgtattcat	13	12	6	10	0	3	2	2	1	1	1	4	2	3	2	2	1	2	1	2	1	5	4			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr13:23915744G>C	ENST00000382298.3	-	10	2859	c.2271C>G	c.(2269-2271)ggC>ggG	p.G757G	SACS_ENST00000402364.1_Silent_p.G7G|SACS_ENST00000382292.3_Silent_p.G757G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	757					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCAATTCTCTGCCAGGCCAGA	0.363													10	68					0	0	0	0	C	23915744	G	C	23915744	2	2	139	1	0	0	0	0	0	0	0	1	13889	1306	46	4		4	SACS	13	23915744	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	10574	23915744	91254134	103	26241											
KLF12	11278	broad.mit.edu	37	chr13	74420023	74420023	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caatagtgttgttcacatttCcaggtgaccttacagctgtg	9	14	9	9	0	1	1	1	1	0	0	2	1	2	1	2	1	2	3	2	1	3	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr13:74420023C>G	ENST00000377669.2	-	3	637	c.611G>C	c.(610-612)gGa>gCa	p.G204A	KLF12_ENST00000377666.4_Missense_Mutation_p.G204A|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	204					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GTTCACATTTCCAGGTGACCT	0.468													41	59					0	0	0	0	G	74420023	C	G	74420023	3	3	139	1	0	0	0	0	1	0	0	0	8392	855	30	2	617	2	KLF12	13	74420023	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	50504279	74420023	40749855	104	26242											
LMO7	4008	broad.mit.edu	37	chr13	76395471	76395471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcaacttatccttcagAaattcccaaagaagattcta	15	10	7	9	0	2	3	1	0	1	3	4	4	4	4	2	1	2	1	2	1	6	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr13:76395471A>G	ENST00000357063.3	+	15	3782	c.2522A>G	c.(2521-2523)gAa>gGa	p.E841G	LMO7_ENST00000377534.3_Missense_Mutation_p.E841G|LMO7_ENST00000526202.1_Missense_Mutation_p.E406G|LMO7_ENST00000321797.8_Missense_Mutation_p.E556G|LMO7_ENST00000465261.2_Missense_Mutation_p.E556G|LMO7_ENST00000341547.4_Missense_Mutation_p.E507G			Q8WWI1	LMO7_HUMAN	LIM domain 7	841						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TATCCTTCAGAAATTCCCAAA	0.448													21	51					0	0	0	0	G	76395471	A	G	76395471	3	3	139	1	0	0	0	0	1	0	0	0	8910	246	9	5	2580	5	LMO7	13	76395471	Missense_Mutation	SNP	A	TCGA-CQ-5332-01A-01D-1683-08	1975448	76395471	38774407	105	26243											
HS6ST3	266722	broad.mit.edu	37	chr13	97485361	97485361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggagcggaggctgcagcGagagcacagggaccaccagt	11	2	18	10	2	0	1	0	0	0	1	0	6	0	5	2	5	4	3	2	5	0	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr13:97485361G>A	ENST00000376705.2	+	2	1349	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	442						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGGCTGCAGCGAGAGCACAGG	0.612													17	25					0	0	0	0	A	97485361	G	A	97485361	3	1	139	1	0	0	0	0	1	0	0	0	7422	1058	37	1	1331	1	HS6ST3	13	97485361	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	21089890	97485361	17684517	106	26244											
OR4K15	81127	broad.mit.edu	37	chr14	20444015	20444015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagactttctggttgagcGcaagactatttcttttgatg	8	16	10	7	1	2	4	0	2	2	2	2	4	2	4	0	1	2	3	0	1	2	6	rs139377821	by1000genomes	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:20444015G>A	ENST00000305051.5	+	1	413	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R113H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGTTGAGCGCAAGACTATT	0.453													59	45					0	0	0	0	A	20444015	G	A	20444015	3	1	139	1	0	0	0	0	1	0	0	0	11141	1087	38	1	340	1	OR4K15	14	20444015	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08		20444015	86905525	107	26245											
SPTB	6710	broad.mit.edu	37	chr14	65260353	65260353	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaggccttgtgcttgcgCtgtaagatgagcacactggt	9	11	12	9	1	1	2	1	1	0	1	1	2	1	2	1	2	3	4	1	2	2	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:65260353C>T	ENST00000389722.3	-	13	2081	c.2028G>A	c.(2026-2028)caG>caA	p.Q676Q	SPTB_ENST00000389720.3_Silent_p.Q676Q|SPTB_ENST00000542895.1_Silent_p.Q676Q|SPTB_ENST00000389721.5_Silent_p.Q676Q|SPTB_ENST00000556626.1_Silent_p.Q676Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	676					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTGCTTGCGCTGTAAGATGA	0.547													18	21					0	0	0	0	T	65260353	C	T	65260353	2	4	139	1	0	0	0	0	0	0	0	1	15208	796	28	4		4	SPTB	14	65260353	Silent	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	44816338	65260353	42089187	108	26246											
COX16	51241	broad.mit.edu	37	chr14	70795912	70795912	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatattccgactctaaagaTattttattctctttcagttt	10	20	3	8	1	4	1	2	0	2	1	6	2	5	1	1	0	0	1	1	0	5	9			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:70795912T>C	ENST00000389912.6	-	3	326	c.183A>G	c.(181-183)atA>atG	p.I61M	RP11-718G2.3_ENST00000555276.1_RNA|COX16_ENST00000557612.1_5'UTR	NM_016468.6	NP_057552.1			COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)											large_intestine(1)|lung(2)	3						ACTCTAAAGATATTTTATTCT	0.303													15	53					0	0	0	0	C	70795912	T	C	70795912	3	2	139	1	0	0	0	0	1	0	0	0	3795	1396	49	5	145	5	COX16	14	70795912	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	5535559	70795912	36553628	109	26247											
BATF	10538	broad.mit.edu	37	chr14	76012935	76012935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtgctggccgccagcaCgccctcgccccccgaggtgg	3	5	14	19	5	0	0	0	0	0	0	2	1	0	0	6	4	2	2	6	4	0	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:76012935C>T	ENST00000286639.6	+	3	557	c.299C>T	c.(298-300)aCg>aTg	p.T100M	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	100						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GCCGCCAGCACGCCCTCGCCC	0.642													5	20					0	0	0	0	T	76012935	C	T	76012935	3	4	139	1	0	0	0	0	1	0	0	0	1329	536	19	1	309	1	BATF	14	76012935	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	5217023	76012935	31336605	110	26248											
TC2N	123036	broad.mit.edu	37	chr14	92249476	92249476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatttgtgccacctgataaCaaccttttctggatttatta	11	17	5	8	0	1	1	0	1	1	0	1	2	1	2	3	1	3	0	3	1	5	8			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:92249476C>T	ENST00000435962.2	-	12	1764	c.1441G>A	c.(1441-1443)Gtt>Att	p.V481I	TC2N_ENST00000360594.5_Missense_Mutation_p.V481I|TC2N_ENST00000340892.5_Missense_Mutation_p.V481I|TC2N_ENST00000556018.1_Missense_Mutation_p.V417I	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	481						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CACCTGATAACAACCTTTTCT	0.328													24	76					0	0	0	0	T	92249476	C	T	92249476	3	4	139	1	0	0	0	0	1	0	0	0	15759	478	17	4	35	4	TC2N	14	92249476	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	16236541	92249476	15100064	111	26249											
HERC2	8924	broad.mit.edu	37	chr15	28419625	28419625	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggccacatccacagttgTccacgccacactgtgggacg	8	7	11	15	3	0	0	0	0	0	0	2	1	2	1	4	2	0	1	4	2	0	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:28419625T>G	ENST00000261609.7	-	65	10081	c.9973A>C	c.(9973-9975)Aca>Cca	p.T3325P		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3325					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCCACAGTTGTCCACGCCACA	0.557													16	19					0	0	0	0	G	28419625	T	G	28419625	3	3	139	1	0	0	0	0	1	0	0	0	7108	1667	58	5	4647	5	HERC2	15	28419625	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08		28419625	74111767	112	26250											
MGA	23269	broad.mit.edu	37	chr15	41961254	41961254	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctttggctagtagtgtGtcatcaccagtaaaatctaa	11	14	9	7	0	3	0	2	0	1	0	3	0	3	0	1	1	1	4	1	1	5	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:41961254G>A	ENST00000219905.7	+	2	343	c.162G>A	c.(160-162)gtG>gtA	p.V54V	MGA_ENST00000545763.1_Silent_p.V54V|MGA_ENST00000568630.1_Intron|MGA_ENST00000566586.1_Silent_p.V54V|MGA_ENST00000570161.1_Silent_p.V54V|MGA_ENST00000389936.4_Silent_p.V54V	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	54						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTAGTAGTGTGTCATCACCAG	0.418													6	111					0	0	0	0	A	41961254	G	A	41961254	2	1	139	1	0	0	0	0	0	0	0	1	9609	1364	48	4		4	MGA	15	41961254	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	13541629	41961254	60570138	113	26251											
PLA2G4F	255189	broad.mit.edu	37	chr15	42439887	42439887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggccgagctcctgcaacCctgccaggctgccgtacaga	9	5	12	15	2	0	1	0	0	0	1	1	3	1	1	5	2	6	4	5	2	3	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:42439887C>T	ENST00000397272.3	-	12	1230	c.1139G>A	c.(1138-1140)gGg>gAg	p.G380E	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.G378E	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	378	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCCTGCAACCCTGCCAGGCT	0.577													36	72					0	0	0	0	T	42439887	C	T	42439887	3	4	139	1	0	0	0	0	1	0	0	0	12078	623	22	4	1452	4	PLA2G4F	15	42439887	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	478633	42439887	60091505	114	26252											
ATP8B4	79895	broad.mit.edu	37	chr15	50211036	50211036	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatccattttcaagttacCttgtttgtctcctgttagga	9	17	6	9	0	2	0	1	0	1	0	4	1	3	1	3	1	2	3	3	1	4	6			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:50211036C>A	ENST00000284509.6	-	19	2176	c.2035_splice	c.e19+1	p.E679_splice	ATP8B4_ENST00000559829.1_Splice_Site_p.E679_splice	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	679					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCAAGTTACCTTGTTTGTCT	0.318													12	51					2.27111e-07	2.35306e-07	1	0	A	50211036	C	A	50211036	5	1	139	1	0	0	0	0	0	0	1	0	1201	695	24	4	1583	4	ATP8B4	15	50211036	Splice_Site	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	7771149	50211036	52320356	115	26253											
IL16	3603	broad.mit.edu	37	chr15	81591957	81591957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccaaagctggacaccGccaatggcactcccaaagtt	12	5	7	17	1	0	0	0	0	0	0	1	1	1	1	6	2	1	3	6	2	3	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:81591957G>A	ENST00000394660.2	+	14	2650	c.2290G>A	c.(2290-2292)Gcc>Acc	p.A764T	IL16_ENST00000302987.4_Missense_Mutation_p.A764T|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Missense_Mutation_p.A63T	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	764					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.A718T(1)|p.A764T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCTGGACACCGCCAATGGCAC	0.557													44	52					0	0	0	0	A	81591957	G	A	81591957	3	1	139	1	0	0	0	0	1	0	0	0	7686	1087	38	1	2340	1	IL16	15	81591957	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	31380921	81591957	20939435	116	26254											
TMEM8A	58986	broad.mit.edu	37	chr16	424221	424221	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaggggccagcctacCgtggagaagaacatggtgta	11	6	16	8	1	0	2	0	0	0	2	0	4	0	3	3	5	4	2	3	5	4	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:424221C>T	ENST00000431232.2	-	10	1915	c.1755_splice	c.e10+1	p.T585_splice	TMEM8A_ENST00000250930.3_Splice_Site_p.T392_splice	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	585					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GCCAGCCTACCGTGGAGAAGA	0.662											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	19					0	0	0	0	T	424221	C	T	424221	5	4	139	1	0	0	0	0	0	0	1	0	16308	666	23	1	576	1	TMEM8A	16	424221	Splice_Site	SNP	C	TCGA-CQ-5332-01A-01D-1683-08		424221	89930532	117	26255											
CARHSP1	23589	broad.mit.edu	37	chr16	8952230	8952230	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatgtgcaggaagatgtcGgggccgccatcagctggagt	9	7	17	8	2	1	2	1	0	0	2	2	5	1	4	2	4	2	2	2	4	1	0	rs141833541	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:8952230G>A	ENST00000396593.2	-	3	617	c.258C>T	c.(256-258)ccC>ccT	p.P86P	RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000561530.1_Silent_p.P86P|CARHSP1_ENST00000562843.1_Silent_p.P86P|CARHSP1_ENST00000567554.1_Silent_p.P86P|CARHSP1_ENST00000311052.5_Silent_p.P86P	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	86	CSD.				intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding			endometrium(2)|lung(1)	3						GGAAGATGTCGGGGCCGCCAT	0.632													5	28					0	0	0	0	A	8952230	G	A	8952230	2	1	139	1	0	0	0	0	0	0	0	1	2678	1103	39	1		1	CARHSP1	16	8952230	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	8528009	8952230	81402523	118	26256											
ACSM2B	348158	broad.mit.edu	37	chr16	20570634	20570634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgccacacgatccccacGctgcaggccacaggctcccg	8	4	9	20	3	0	0	0	0	0	0	2	1	2	0	5	2	2	3	5	2	0	0	rs141121285		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:20570634G>A	ENST00000329697.6	-	3	481	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	ACSM2B_ENST00000565322.1_Missense_Mutation_p.R26C|ACSM2B_ENST00000414188.2_Missense_Mutation_p.R105C|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R105C|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R105C	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	105					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CGATCCCCACGCTGCAGGCCA	0.567													11	23					0	0	0	0	A	20570634	G	A	20570634	3	1	139	1	0	0	0	0	1	0	0	0	184	1087	38	1	1468	1	ACSM2B	16	20570634	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	11618404	20570634	69784119	119	26257											
IL21R	50615	broad.mit.edu	37	chr16	27460487	27460487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgggctctgactgcagCagccctgtggagtgtgactt	5	13	14	9	0	1	2	0	2	1	0	1	3	1	3	1	2	3	3	1	2	0	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:27460487C>A	ENST00000337929.3	+	9	1973	c.1500C>A	c.(1498-1500)agC>agA	p.S500R	IL21R_ENST00000395755.1_Missense_Mutation_p.S500R|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.S500R|IL21R_ENST00000395754.4_Missense_Mutation_p.S500R	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	500					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTGACTGCAGCAGCCCTGTGG	0.657			T	BCL6	NHL								12	65					5.50884e-06	5.67834e-06	1	0	A	27460487	C	A	27460487	3	1	139	1	0	0	0	0	1	0	0	0	7724	709	25	4	1530	4	IL21R	16	27460487	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	6889853	27460487	62894266	120	26258											
CNOT1	23019	broad.mit.edu	37	chr16	58571071	58571071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgggcctccatgagcaCgatcaatcattgcttcatag	10	12	9	10	1	3	1	3	1	0	0	4	2	4	1	2	1	2	3	2	1	2	4			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:58571071C>T	ENST00000317147.5	-	39	5800	c.5468G>A	c.(5467-5469)cGt>cAt	p.R1823H	CNOT1_ENST00000569240.1_Missense_Mutation_p.R1818H|CNOT1_ENST00000245138.4_Missense_Mutation_p.R674H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1823					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCCATGAGCACGATCAATCAT	0.468													8	82					0	0	0	0	T	58571071	C	T	58571071	3	4	139	1	0	0	0	0	1	0	0	0	3647	536	19	1	1706	1	CNOT1	16	58571071	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	31110584	58571071	31783682	121	26259											
LRRC36	55282	broad.mit.edu	37	chr16	67409205	67409205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctggaaaccacagtccccCcatctctgccagaacccccc	9	5	7	20	0	1	1	0	0	1	1	3	2	2	2	8	2	3	1	8	2	2	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:67409205C>A	ENST00000329956.6	+	10	1569	c.1550C>A	c.(1549-1551)cCc>cAc	p.P517H	LRRC36_ENST00000541146.1_Missense_Mutation_p.P38T|LRRC36_ENST00000290940.7_Missense_Mutation_p.P249H|LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000563189.1_Missense_Mutation_p.P396H	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	517										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CACAGTCCCCCCATCTCTGCC	0.512													97	229					4.09449e-47	4.75718e-47	1	0	A	67409205	C	A	67409205	3	1	139	1	0	0	0	0	1	0	0	0	9054	623	22	4	1616	4	LRRC36	16	67409205	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	8838134	67409205	22945548	122	26260											
ADAMTS18	170692	broad.mit.edu	37	chr16	77327019	77327019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccggctgttcttggggCatcgtccaagcacacagccc	7	8	12	14	2	1	0	0	0	1	0	3	0	2	0	3	3	3	5	3	3	2	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:77327019C>A	ENST00000282849.5	-	20	3561	c.3143G>T	c.(3142-3144)tGc>tTc	p.C1048F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1048	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GTTCTTGGGGCATCGTCCAAG	0.587													29	52					7.41945e-09	7.76724e-09	1	0	A	77327019	C	A	77327019	3	1	139	1	0	0	0	0	1	0	0	0	263	710	25	4	538	4	ADAMTS18	16	77327019	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	9917814	77327019	13027734	123	26261											
KIAA0753	9851	broad.mit.edu	37	chr17	6493123	6493139	+	Frame_Shift_Del	DEL	AAGGAGCCTACAGCCTC	AAGGAGCCTACAGCCTC	-																															cagctatcagccacgggttgAaggagcctacagcctcatga																										TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:6493123_6493139delAAGGAGCCTACAGCCTC	ENST00000361413.3	-	18	3104_3120	c.2746_2762delGAGGCTGTAGGCTCCTT	c.(2746-2763)cfs	p.EAVGSF916fs	KIAA0753_ENST00000542606.1_Frame_Shift_Del_p.EAVGSF617fs|KIAA0753_ENST00000589033.1_Frame_Shift_Del_p.EAVGSF372fs|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000572370.1_Frame_Shift_Del_p.EAVGSF617fs	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	916						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CCACGGGTTGAAGGAGCCTACAGCCTCATGAGATATG	0.47													14	66	---	---	---	---					-	6493139	AAGGAGCCTACAGCCTC	-	6493123	7	5	139	1	0	1	0	1	0	0	0	0	8242	246	9	0	149	0	KIAA0753	17	6493123	Frame_Shift_Del	DEL	AAGGAGCCTACAGCCTC	TCGA-CQ-5332-01A-01D-1683-08		6493123	74702087	124	26262											
DLG4	1742	broad.mit.edu	37	chr17	7122262	7122262	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgagtaaagtaggccGtctctgagccgaccagctgt	9	9	13	10	2	1	2	0	2	1	0	2	3	1	2	3	1	3	4	3	1	3	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:7122262G>A	ENST00000399510.2	-	0	759				ACADVL_ENST00000543245.2_Intron	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)						axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						AAAGTAGGCCGTCTCTGAGCC	0.567													3	11					0	0	0	0	A	7122262	G	A	7122262	1	1	139	1	0	0	0	0	0	0	0	0	4594	1160	40	1		1	DLG4	17	7122262	Translation_Start_Site	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	629139	7122262	74072948	125	26263											
TP53	7157	broad.mit.edu	37	chr17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacgcgggtgccgggcggggGtgtggaatcaacccacagct	7	5	18	11	4	1	0	1	0	0	0	1	2	1	1	2	5	3	1	2	5	2	0	rs28934874		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:7578479G>A	ENST00000420246.2	-	5	583	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGGCGGGGGTGTGGAATCA	0.612		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			35	8					0	0	0	0	A	7578479	G	A	7578479	3	1	139	1	0	0	0	0	1	0	0	0	16476	1261	44	4	847	4	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	456217	7578479	73616731	126	26264											
MYH4	4622	broad.mit.edu	37	chr17	10368799	10368799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattgtcagagatggagaaGatatggggtggggcctcctg	9	9	17	6	0	1	3	1	0	0	3	2	5	2	3	2	5	0	1	2	5	2	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:10368799G>A	ENST00000255381.2	-	5	575	c.465C>T	c.(463-465)atC>atT	p.I155I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	155	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGATGGAGAAGATATGGGGTG	0.478													58	111					0	0	0	0	A	10368799	G	A	10368799	2	1	139	1	0	0	0	0	0	0	0	1	10107	932	33	2		2	MYH4	17	10368799	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	2790320	10368799	70826411	127	26265											
KCNJ12	3768	broad.mit.edu	37	chr17	21319835	21319835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgaggaggatgaggcggacgGagaccaggacggccgaagcc	11	1	19	10	5	0	2	0	1	0	1	0	9	0	6	3	7	1	0	3	7	1	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:21319835G>A	ENST00000583088.1	+	3	2076	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G394E	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GAGGCGGACGGAGACCAGGAC	0.657										Prostate(3;0.18)			4	54					0	0	0	0	A	21319835	G	A	21319835	3	1	139	1	0	0	0	0	1	0	0	0	8099	1174	41	2	1183	2	KCNJ12	17	21319835	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	10951036	21319835	59875375	128	26266											
ADAP2	55803	broad.mit.edu	37	chr17	29253865	29253865	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttatgatccacaatggaaaCctccgtgtgaaggccaagtt	12	11	9	9	1	0	2	0	2	0	0	2	3	2	3	4	2	1	1	4	2	5	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:29253865C>T	ENST00000330889.3	+	3	581	c.246C>T	c.(244-246)aaC>aaT	p.N82N	ADAP2_ENST00000580525.1_Silent_p.N88N	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	82	Arf-GAP.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACAATGGAAACCTCCGTGTGA	0.478													14	38					0	0	0	0	T	29253865	C	T	29253865	2	4	139	1	0	0	0	0	0	0	0	1	280	506	18	4		4	ADAP2	17	29253865	Silent	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	7934030	29253865	51941345	129	26267											
SAMD14	201191	broad.mit.edu	37	chr17	48192980	48192980	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtgtttaggggagcaggtgGgggaggtggtgctacccgag	6	8	21	6	2	0	0	0	0	0	0	0	3	0	2	1	7	3	3	1	7	2	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:48192980G>T	ENST00000330175.4	-	7	1087	c.770C>A	c.(769-771)cCc>cAc	p.P257H	SAMD14_ENST00000503131.1_Missense_Mutation_p.P257H	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	257										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GGAGCAGGTGGGGGAGGTGGT	0.622													38	82					1.90571e-15	2.07053e-15	1	0	T	48192980	G	T	48192980	3	4	139	1	0	0	0	0	1	0	0	0	13904	1232	43	4	587	4	SAMD14	17	48192980	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	18939115	48192980	33002230	130	26268											
RNF213	57674	broad.mit.edu	37	chr17	78355470	78355470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgacgagaccatcggcGtggtccacctcgtcctgcgc	5	7	13	16	6	0	1	0	0	0	1	4	3	2	1	5	2	2	0	5	2	0	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:78355470G>A	ENST00000582970.1	+	57	14064	c.13921G>A	c.(13921-13923)Gtg>Atg	p.V4641M	CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V2714M|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V4690M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACCATCGGCGTGGTCCACCT	0.597													6	34					0	0	0	0	A	78355470	G	A	78355470	3	1	139	1	0	0	0	0	1	0	0	0	13562	1145	40	1	14462	1	RNF213	17	78355470	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	30162490	78355470	2839740	131	26269											
LAMA1	284217	broad.mit.edu	37	chr18	7050890	7050890	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaatccagtttccaggtcGaggggcattggcagctttaa	11	10	11	9	1	0	0	0	0	0	0	3	1	2	0	2	4	1	4	2	4	3	4			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr18:7050890G>A	ENST00000389658.3	-	4	484	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	131	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTCCAGGTCGAGGGGCATTG	0.468													30	52					0	0	0	0	A	7050890	G	A	7050890	4	1	139	1	0	0	0	0	0	1	0	0	8658	1066	37	1	9076	1	LAMA1	18	7050890	Nonsense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08		7050890	71026358	132	26270											
SETBP1	26040	broad.mit.edu	37	chr18	42532422	42532422	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttttttacaagggttcagCtaccctattcccagtggaag	9	13	8	11	0	1	0	1	0	0	0	2	1	2	1	3	2	3	2	3	2	5	7			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr18:42532422C>G	ENST00000282030.5	+	4	3413	c.3117C>G	c.(3115-3117)agC>agG	p.S1039R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1039						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGGGTTCAGCTACCCTATTC	0.448									Schinzel-Giedion syndrome				10	39					0	0	0	0	G	42532422	C	G	42532422	3	3	139	1	0	0	0	0	1	0	0	0	14216	796	28	4	3320	4	SETBP1	18	42532422	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	35481532	42532422	35544826	133	26271											
CDH7	1005	broad.mit.edu	37	chr18	63481745	63481745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtggtacaagtgacagCgacggatgctgatgatccta	11	9	12	9	2	1	3	1	3	0	0	2	5	2	4	1	2	3	2	1	2	3	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr18:63481745C>T	ENST00000536984.2	+	4	1224	c.530C>T	c.(529-531)gCg>gTg	p.A177V	CDH7_ENST00000323011.3_Missense_Mutation_p.A177V|CDH7_ENST00000397968.2_Missense_Mutation_p.A177V			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	177	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAAGTGACAGCGACGGATGCT	0.438													23	59					0	0	0	0	T	63481745	C	T	63481745	3	4	139	1	0	0	0	0	1	0	0	0	3144	768	27	1	540	1	CDH7	18	63481745	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	20949323	63481745	14595503	134	26272											
SLC39A3	29985	broad.mit.edu	37	chr19	2733161	2733161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaaagaccgagtgggccGacagcgcgaaggccaggctg	10	3	15	13	4	1	1	1	0	0	1	1	4	1	1	4	3	1	1	4	3	2	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:2733161G>A	ENST00000269740.4	-	3	862	c.533C>T	c.(532-534)tCg>tTg	p.S178L	AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Missense_Mutation_p.S178L	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	178						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		CGAGTGGGCCGACAGCGCGAA	0.721													30	63					0	0	0	0	A	2733161	G	A	2733161	3	1	139	1	0	0	0	0	1	0	0	0	14707	1059	37	1	415	1	SLC39A3	19	2733161	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08		2733161	56395822	135	26273											
MAP2K2	5605	broad.mit.edu	37	chr19	4117549	4117549	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttggctttctgggtgagAaaggcttccagccgcttctt	6	13	11	11	1	2	1	0	1	2	1	3	2	3	1	3	3	1	3	3	3	1	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:4117549A>C	ENST00000262948.5	-	2	424	c.171T>G	c.(169-171)ttT>ttG	p.F57L	MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	57			F -> C (in CFC syndrome).		activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGGGTGAGAAAGGCTTCCA	0.597													32	63					0	0	0	0	C	4117549	A	C	4117549	3	2	139	1	0	0	0	0	1	0	0	0	9306	243	9	5	1071	5	MAP2K2	19	4117549	Missense_Mutation	SNP	A	TCGA-CQ-5332-01A-01D-1683-08	1384388	4117549	55011434	136	26274											
DENND1C	79958	broad.mit.edu	37	chr19	6468392	6468392	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccagaccccaagaagctGctgtccagagcttcttctgc	8	10	8	15	0	3	3	0	0	3	3	5	3	4	3	4	0	4	3	4	0	2	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:6468392G>T	ENST00000381480.2	-	22	1756	c.1644C>A	c.(1642-1644)agC>agA	p.S548R	DENND1C_ENST00000543576.1_Missense_Mutation_p.S504R	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	548						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCAAGAAGCTGCTGTCCAGAG	0.587													8	24					2.74318e-10	2.93287e-10	1	0	T	6468392	G	T	6468392	3	4	139	1	0	0	0	0	1	0	0	0	4465	1310	46	4	769	4	DENND1C	19	6468392	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	2350843	6468392	52660591	137	26275											
CPAMD8	27151	broad.mit.edu	37	chr19	17088276	17088276	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcaggcgaccaagggggaCcatgctgggggtcacggcca	9	3	17	12	2	1	0	1	0	0	0	1	2	1	1	3	6	2	2	3	6	1	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:17088276C>G	ENST00000443236.1	-	15	1832	c.1801G>C	c.(1801-1803)Gtc>Ctc	p.V601L	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	554						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCAAGGGGGACCATGCTGGGG	0.587													14	28					0	0	0	0	G	17088276	C	G	17088276	3	3	139	1	0	0	0	0	1	0	0	0	3825	507	18	4	4109	4	CPAMD8	19	17088276	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	10619884	17088276	42040707	138	26276											
ZNF569	148266	broad.mit.edu	37	chr19	37904369	37904369	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacttctcatatgtacagtAagggctgagctttgagagaa	12	12	11	6	0	1	4	1	3	1	1	2	5	1	4	0	1	2	4	0	1	4	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:37904369A>T	ENST00000316950.6	-	6	1748	c.1191T>A	c.(1189-1191)ctT>ctA	p.L397L	ZNF569_ENST00000392150.2_Silent_p.L238L|ZNF569_ENST00000392149.2_Silent_p.L397L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGTACAGTAAGGGCTGAGC	0.383													16	64					0	0	0	0	T	37904369	A	T	37904369	2	4	139	1	0	0	0	0	0	0	0	1	18095	349	13	5		5	ZNF569	19	37904369	Silent	SNP	A	TCGA-CQ-5332-01A-01D-1683-08	20816093	37904369	21224614	139	26277											
ZNF569	148266	broad.mit.edu	37	chr19	37917207	37917207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacattccggtacagttttCtctgagcaggatccaatctc	9	13	7	12	1	3	1	1	1	2	0	7	2	5	2	2	2	2	3	2	2	2	4			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:37917207C>T	ENST00000316950.6	-	4	646	c.89G>A	c.(88-90)aGa>aAa	p.R30K	ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000392149.2_Missense_Mutation_p.R30K|ZNF569_ENST00000589833.1_Missense_Mutation_p.R54K|ZNF569_ENST00000592490.1_Intron	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTACAGTTTTCTCTGAGCAGG	0.388													27	39					0	0	0	0	T	37917207	C	T	37917207	3	4	139	1	0	0	0	0	1	0	0	0	18095	913	32	2	1983	2	ZNF569	19	37917207	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	12838	37917207	21211776	140	26278											
RYR1	6261	broad.mit.edu	37	chr19	39023129	39023129	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccctgcttacttccccaGcaaactggatgaggattacc	9	10	7	15	0	0	1	0	1	0	0	2	3	2	3	5	2	5	2	5	2	3	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:39023129G>A	ENST00000355481.4	+	76	11257		c.e76-1		RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000359596.3_Splice_Site	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TACTTCCCCAGCAAACTGGAT	0.567													3	30					0	0	0	0	A	39023129	G	A	39023129	5	1	139	1	0	0	0	0	0	0	1	0	13853	985	34	4	11447	4	RYR1	19	39023129	Splice_Site	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	1105922	39023129	20105854	141	26279											
CYP2B6	1555	broad.mit.edu	37	chr19	41510326	41510326	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaggaggctcagtgtctGatagaggagcttcggaaatc	11	8	15	7	1	2	2	1	1	1	1	4	6	2	6	0	5	1	2	0	5	2	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:41510326G>A	ENST00000324071.4	+	3	466	c.459G>A	c.(457-459)ctG>ctA	p.L153L	CYP2B6_ENST00000330446.5_Silent_p.L113L|CYP2B6_ENST00000593831.1_Silent_p.L77L|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	153					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CTCAGTGTCTGATAGAGGAGC	0.527													19	21					0	0	0	0	A	41510326	G	A	41510326	2	1	139	1	0	0	0	0	0	0	0	1	4196	1277	45	2		2	CYP2B6	19	41510326	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	2487197	41510326	17618657	142	26280											
PSG7	5676	broad.mit.edu	37	chr19	43433689	43433689	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtatagtttgtgacaccaAataggtagagggtcctgttg	11	12	12	6	0	0	2	0	1	0	1	1	2	1	2	2	2	0	4	2	2	5	6			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:43433689A>T	ENST00000446844.3	-	0	703				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TGTGACACCAAATAGGTAGAG	0.522													178	292					0	0	0	0	T	43433689	A	T	43433689	1	4	139	0	1	0	0	0	0	0	0	0	12739	14	1	5		5	PSG7	19	43433689	RNA	SNP	A	TCGA-CQ-5332-01A-01D-1683-08	1923363	43433689	15695294	143	26281											
ZNF230	7773	broad.mit.edu	37	chr19	44515253	44515253	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatatcttttgatccaTcagcgaatccacagtggaga	11	12	7	11	1	3	2	2	1	1	1	6	4	6	2	3	1	1	0	3	1	2	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:44515253T>C	ENST00000429154.2	+	5	1290	c.1062T>C	c.(1060-1062)caT>caC	p.H354H		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TTTTGATCCATCAGCGAATCC	0.428													30	153					0	0	0	0	C	44515253	T	C	44515253	2	2	139	1	0	0	0	0	0	0	0	1	17879	1432	50	5		5	ZNF230	19	44515253	Silent	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	1081564	44515253	14613730	144	26282											
ZNF180	7733	broad.mit.edu	37	chr19	44983616	44983616	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacagtcacaattttgaagTtcactccttcctaaaaaagg	14	11	5	11	0	2	1	2	1	0	0	4	1	4	1	3	1	0	1	3	1	5	5			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:44983616T>C	ENST00000221327.4	-	4	499	c.218A>G	c.(217-219)aAc>aGc	p.N73S	ZNF180_ENST00000391956.4_Missense_Mutation_p.N48S|ZNF180_ENST00000592529.1_Missense_Mutation_p.N46S|ZNF180_ENST00000587047.1_Intron|ZNF180_ENST00000586637.1_Silent_p.E82E	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AATTTTGAAGTTCACTCCTTC	0.483													36	112					0	0	0	0	C	44983616	T	C	44983616	3	2	139	1	0	0	0	0	1	0	0	0	17843	1725	60	5	1868	5	ZNF180	19	44983616	Missense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	468363	44983616	14145367	145	26283											
PVR	5817	broad.mit.edu	37	chr19	45162189	45162189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcatcaccagagctgcCgtaattgagcacctactacg	11	8	10	12	2	1	3	1	2	0	1	1	3	1	3	3	0	6	4	3	0	3	4	rs35385129	by1000genomes	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:45162189C>A	ENST00000406449.4	+	6	1171	c.1171C>A	c.(1171-1173)Cgt>Agt	p.R391S	PVR_ENST00000344956.4_Intron|PVR_ENST00000403059.4_Intron|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000425690.3_Intron	NM_001135770.1	NP_001129242.1	P15151	PVR_HUMAN	poliovirus receptor	0					adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCagagctgccgtaattgagc	0.532													27	68					5.61819e-17	6.23898e-17	1	0	A	45162189	C	A	45162189	3	1	139	1	0	0	0	0	1	0	0	0	12919	652	23	3	1193	3	PVR	19	45162189	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	178573	45162189	13966794	146	26284											
ZNF549	256051	broad.mit.edu	37	chr19	58049113	58049113	+	Nonsense_Mutation	SNP	T	T	A																															cacactggagaaaaagcttaTaagcgtagggaatatgggaa																										TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:58049113T>A	ENST00000376233.3	+	4	922	c.741T>A	c.(739-741)taT>taA	p.Y247*	ZNF549_ENST00000240719.3_Nonsense_Mutation_p.Y234*|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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;0.026)		AAAAAGCTTATAAGCGTAGGG	0.383													42	55					0	0	0	0	A	58049113	T	A	58049113	4	1	139	1	0	0	0	0	0	1	0	0	18076	1413	49	5	712	5	ZNF549	19	58049113	Nonsense_Mutation	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	12886924	58049113	1079870	147	26285	211	2									
ZNF549	256051	broad.mit.edu	37	chr19	58049114	58049114	+	Missense_Mutation	SNP	A	A	G																															acactggagaaaaagcttatAagcgtagggaatatgggaaa																										TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:58049114A>G	ENST00000376233.3	+	4	923	c.742A>G	c.(742-744)Aag>Gag	p.K248E	ZNF549_ENST00000240719.3_Missense_Mutation_p.K235E|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K235*(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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;0.026)		AAAAGCTTATAAGCGTAGGGA	0.383													42	55					0	0	0	0	G	58049114	A	G	58049114	3	3	139	1	0	0	0	0	1	0	0	0	18076	363	13	5	713	5	ZNF549	19	58049114	Missense_Mutation	SNP	A	TCGA-CQ-5332-01A-01D-1683-08	1	58049114	1079869	148	26286	211	2									
NKX2-2	4821	broad.mit.edu	37	chr20	21492699	21492699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaaagggaatgcccgcctgGaaggtggcggctgccaggtc	9	5	17	10	2	0	0	0	0	0	0	1	3	0	2	3	6	2	1	3	6	4	0			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:21492699G>T	ENST00000377142.4	-	2	1040	c.684C>A	c.(682-684)ttC>ttA	p.F228L	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	228					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGCCCGCCTGGAAGGTGGCGG	0.682													11	28					2.80697e-09	2.96948e-09	1	0	T	21492699	G	T	21492699	3	4	139	1	0	0	0	0	1	0	0	0	10520	1165	41	2	141	2	NKX2-2	20	21492699	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08		21492699	41532821	149	26287											
PREX1	57580	broad.mit.edu	37	chr20	47266017	47266017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgccatcatggagaccctgGccttggggatcaccctctgc	6	9	11	15	0	3	1	2	0	1	1	3	3	3	2	4	4	2	0	4	4	0	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:47266017G>A	ENST00000396220.1	-	25	3148	c.3126C>T	c.(3124-3126)ggC>ggT	p.G1042G	PREX1_ENST00000371941.3_Silent_p.G1042G			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1042					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGAGACCCTGGCCTTGGGGAT	0.627													19	20					0	0	0	0	A	47266017	G	A	47266017	2	1	139	1	0	0	0	0	0	0	0	1	12556	1190	42	4		4	PREX1	20	47266017	Silent	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	25773318	47266017	15759503	150	26288											
CDH4	1002	broad.mit.edu	37	chr20	60485513	60485513	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaaaaccgcgtggagacCgtggtcgcaaacctcacggt	10	5	12	14	6	1	1	1	0	0	1	2	3	1	1	4	3	2	1	4	3	3	0	rs148334531		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:60485513C>T	ENST00000360469.5	+	9	1312	c.1224C>T	c.(1222-1224)acC>acT	p.T408T	CDH4_ENST00000543233.1_Silent_p.T334T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	408	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCGTGGAGACCGTGGTCGCAA	0.527													12	35					0	0	0	0	T	60485513	C	T	60485513	2	4	139	1	0	0	0	0	0	0	0	1	3141	639	23	1		1	CDH4	20	60485513	Silent	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	13219496	60485513	2540007	151	26289											
NPBWR2	2832	broad.mit.edu	37	chr20	62737451	62737451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagagccttggctccagagCggagccgcacggcccgcagc	7	4	14	16	4	0	2	0	0	0	2	1	3	1	3	4	3	4	3	4	3	1	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:62737451C>T	ENST00000369768.1	-	1	1073	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	245						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GGCTCCAGAGCGGAGCCGCAC	0.667													9	21					0	0	0	0	T	62737451	C	T	62737451	3	4	139	1	0	0	0	0	1	0	0	0	10639	768	27	1	270	1	NPBWR2	20	62737451	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	2251938	62737451	288069	152	26290											
DIP2A	23181	broad.mit.edu	37	chr21	47971553	47971553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccccgtttctagaggttgGaccagcctcaatgatcgtgg	7	11	11	12	2	2	2	1	1	1	1	4	3	3	3	4	3	1	2	4	3	2	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr21:47971553G>T	ENST00000318711.7	+	24	3032	c.2849G>T	c.(2848-2850)gGa>gTa	p.G950V	DIP2A_ENST00000427143.2_Missense_Mutation_p.G885V|DIP2A_ENST00000417564.2_Missense_Mutation_p.G949V|DIP2A_ENST00000400274.1_Missense_Mutation_p.G945V	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	949					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTAGAGGTTGGACCAGCCTCA	0.478													13	4					2.27111e-07	2.35306e-07	1	0	T	47971553	G	T	47971553	3	4	139	1	0	0	0	0	1	0	0	0	4564	1174	41	2	3022	2	DIP2A	21	47971553	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08		47971553	158342	153	26291											
PLXNB2	23654	broad.mit.edu	37	chr22	50728272	50728272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcttctctgcacatgcGtgccagcagcgtgcggttcc	4	10	14	13	3	2	0	0	0	2	0	4	0	3	0	2	3	6	3	2	3	0	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr22:50728272G>A	ENST00000449103.1	-	3	882	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R248C			O15031	PLXB2_HUMAN	plexin B2	248	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCACATGCGTGCCAGCAGC	0.637													34	23					0	0	0	0	A	50728272	G	A	50728272	3	1	139	1	0	0	0	0	1	0	0	0	12196	1145	40	1	4914	1	PLXNB2	22	50728272	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08		50728272	576294	154	26292											
FAM47C	442444	broad.mit.edu	37	chrX	37028771	37028771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcgcgtatctcatctccGcccggagcctcctgagactg	6	9	10	16	4	2	1	1	1	2	1	6	4	3	2	4	1	1	1	4	1	1	1			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:37028771G>A	ENST00000358047.3	+	1	2340	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	763										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCATCTCCGCCCGGAGCCT	0.627													31	13					0	0	0	0	A	37028771	G	A	37028771	3	1	139	1	0	0	0	0	1	0	0	0	5618	1087	38	1	2290	1	FAM47C	23	37028771	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08		37028771	118241789	155	26293											
CCNB3	85417	broad.mit.edu	37	chrX	50053854	50053854	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaccatcttcaaggagtcTttggacttgcaagagaagcc	12	9	11	9	0	3	2	1	0	2	2	3	6	3	4	2	2	2	1	2	2	3	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:50053854T>G	ENST00000376042.1	+	6	2983	c.2685T>G	c.(2683-2685)tcT>tcG	p.S895S	CCNB3_ENST00000276014.7_Silent_p.S895S|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	895					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCAAGGAGTCTTTGGACTTGC	0.502													11	11					0	0	0	0	G	50053854	T	G	50053854	2	3	139	1	0	0	0	0	0	0	0	1	2943	1596	56	5		5	CCNB3	23	50053854	Silent	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	13025083	50053854	105216706	156	26294											
DGKK	139189	broad.mit.edu	37	chrX	50121103	50121103	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcccccttacccgatcTcttgtcagcatctgggcagc	6	13	7	15	1	3	0	1	0	2	0	5	1	4	0	3	1	3	2	3	1	1	4			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:50121103T>A	ENST00000376025.2	-	0	3163							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTACCCGATCTCTTGTCAGCA	0.473													21	17					0	0	0	0	A	50121103	T	A	50121103	1	1	139	0	1	0	0	0	0	0	0	0	4509	1551	54	5		5	DGKK	23	50121103	RNA	SNP	T	TCGA-CQ-5332-01A-01D-1683-08	67249	50121103	105149457	157	26295											
HUWE1	10075	broad.mit.edu	37	chrX	53622348	53622348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atagctcagcaagtgctcggCctaatctggaggaagctgaa	12	8	12	9	1	2	1	1	1	1	0	3	3	2	3	1	3	4	4	1	3	5	2			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:53622348C>T	ENST00000342160.3	-	29	3636	c.3179G>A	c.(3178-3180)gGc>gAc	p.G1060D	HUWE1_ENST00000262854.6_Missense_Mutation_p.G1060D|HUWE1_ENST00000218328.8_Missense_Mutation_p.G1060D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1060					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAGTGCTCGGCCTAATCTGGA	0.423													14	5					0	0	0	0	T	53622348	C	T	53622348	3	4	139	1	0	0	0	0	1	0	0	0	7514	739	26	4	10165	4	HUWE1	23	53622348	Missense_Mutation	SNP	C	TCGA-CQ-5332-01A-01D-1683-08	3501245	53622348	101648212	158	26296											
KIAA2022	340533	broad.mit.edu	37	chrX	73962753	73962753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcttctcacctttaaagcGattaatgatgatatatttga	12	17	6	6	1	2	3	1	3	2	0	3	4	2	3	1	0	1	1	1	0	5	8			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:73962753G>A	ENST00000373468.1	-	3	2290	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	KIAA2022_ENST00000055682.5_Missense_Mutation_p.R547C			Q5QGS0	K2022_HUMAN	KIAA2022	547					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCTTTAAAGCGATTAATGATG	0.403													39	16					0	0	0	0	A	73962753	G	A	73962753	3	1	139	1	0	0	0	0	1	0	0	0	8320	1058	37	1	2919	1	KIAA2022	23	73962753	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	20340405	73962753	81307807	159	26297											
RGAG1	57529	broad.mit.edu	37	chrX	109694160	109694160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactttccccattgctaatGccagcctcagactctggggc	7	10	9	15	0	2	1	1	0	1	1	3	1	3	1	4	2	3	2	4	2	1	3			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:109694160G>A	ENST00000465301.2	+	3	561	c.315G>A	c.(313-315)atG>atA	p.M105I	RGAG1_ENST00000540313.1_Missense_Mutation_p.M105I	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	105										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CATTGCTAATGCCAGCCTCAG	0.527													112	38					0	0	0	0	A	109694160	G	A	109694160	3	1	139	1	0	0	0	0	1	0	0	0	13356	1319	46	4	317	4	RGAG1	23	109694160	Missense_Mutation	SNP	G	TCGA-CQ-5332-01A-01D-1683-08	35731407	109694160	45576400	160	26298											
C1orf174	339448	broad.mit.edu	37	chr1	3807459	3807459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagcaaggcactgccttCagcaaactcattttcacaag	13	9	8	11	0	3	0	3	0	0	0	3	1	3	1	1	2	4	3	1	2	4	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:3807459C>T	ENST00000361605.3	-	3	390	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	98										endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GCACTGCCTTCAGCAAACTCA	0.522													13	62					0	0	0	0	T	3807459	C	T	3807459	3	4	140	1	0	0	0	0	1	0	0	0	2034	835	29	2	447	2	C1orf174	1	3807459	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08		3807459	245443162	1	26299											
HTR6	3362	broad.mit.edu	37	chr1	19992872	19992872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccatatgcttcacctactGcaggatcctgctagctgccc	7	11	8	15	0	1	0	1	0	0	0	2	1	2	1	4	1	7	4	4	1	3	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:19992872G>T	ENST00000289753.1	+	1	1093	c.626G>T	c.(625-627)tGc>tTc	p.C209F		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	209					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TTCACCTACTGCAGGATCCTG	0.667													9	55					9.70103e-10	1.08291e-09	1	0	T	19992872	G	T	19992872	3	4	140	1	0	0	0	0	1	0	0	0	7504	1319	46	4	628	4	HTR6	1	19992872	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	16185413	19992872	229257749	2	26300											
PAFAH2	5051	broad.mit.edu	37	chr1	26303187	26303187	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaccgaaattgggtctcCttggccaaagccagaatagc	12	8	9	12	1	2	1	1	0	1	1	3	2	2	1	4	2	2	0	4	2	4	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:26303187C>T	ENST00000374282.3	-	8	923	c.744G>A	c.(742-744)aaG>aaA	p.K248K	PAFAH2_ENST00000374284.1_Silent_p.K248K	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	248					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGGGTCTCCTTGGCCAAAG	0.448													9	35					0	0	0	0	T	26303187	C	T	26303187	2	4	140	1	0	0	0	0	0	0	0	1	11458	680	24	4		4	PAFAH2	1	26303187	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	6310315	26303187	222947434	3	26301											
MAP3K6	9064	broad.mit.edu	37	chr1	27690449	27690449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaagttcatgatgatgtCggggctcagcagctccacgc	9	8	12	12	2	2	2	2	2	0	0	4	2	3	2	1	2	3	5	1	2	1	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:27690449C>T	ENST00000493901.1	-	6	1062	c.823G>A	c.(823-825)Gac>Aac	p.D275N	MAP3K6_ENST00000357582.2_Missense_Mutation_p.D275N|MAP3K6_ENST00000374040.3_Missense_Mutation_p.D267N	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	275					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATGATGATGTCGGGGCTCAGC	0.632													6	24					0	0	0	0	T	27690449	C	T	27690449	3	4	140	1	0	0	0	0	1	0	0	0	9323	884	31	1	3143	1	MAP3K6	1	27690449	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	1387262	27690449	221560172	4	26302											
WASF2	10163	broad.mit.edu	37	chr1	27744792	27744792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaggggtaagattgttgaGagggggaggagtatcacagg	12	8	19	2	0	1	2	1	1	0	2	1	5	1	4	0	6	0	4	0	6	3	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:27744792G>T	ENST00000430629.2	-	4	612	c.397C>A	c.(397-399)Ctc>Atc	p.L133I	WASF2_ENST00000536657.1_Missense_Mutation_p.L133I	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	133					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AGATTGTTGAGAGGGGGAGGA	0.423													11	63					0.0692343	0.0694755	1	0	T	27744792	G	T	27744792	3	4	140	1	0	0	0	0	1	0	0	0	17349	942	33	2	1123	2	WASF2	1	27744792	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	54343	27744792	221505829	5	26303											
KIAA0319L	79932	broad.mit.edu	37	chr1	35900587	35900587	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcaggagtttgcccttctCtcggtctggccatgtaaaga	8	12	11	10	1	2	1	0	0	2	1	4	2	2	2	2	3	2	3	2	3	2	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:35900587C>G	ENST00000325722.3	-	21	3292	c.3058G>C	c.(3058-3060)Gag>Cag	p.E1020Q	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E457Q	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1020						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGCCCTTCTCTCGGTCTGGC	0.572													14	61					0	0	0	0	G	35900587	C	G	35900587	3	3	140	1	0	0	0	0	1	0	0	0	8220	922	32	2	95	2	KIAA0319L	1	35900587	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	8155795	35900587	213350034	6	26304											
UTP11L	51118	broad.mit.edu	37	chr1	38484767	38484767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatcagagctccatctgctgGatttccaggggaagcaacag	12	8	11	10	0	2	1	1	0	1	1	4	3	4	3	2	3	4	3	2	3	3	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:38484767G>A	ENST00000373014.4	+	5	440	c.379G>A	c.(379-381)Gat>Aat	p.D127N	UTP11L_ENST00000537711.1_Missense_Mutation_p.D127N|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	127					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCATCTGCTGGATTTCCAGGG	0.373													6	66					0	0	0	0	A	38484767	G	A	38484767	3	1	140	1	0	0	0	0	1	0	0	0	17190	1174	41	2	397	2	UTP11L	1	38484767	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	2584180	38484767	210765854	7	26305											
UTP11L	51118	broad.mit.edu	37	chr1	38485030	38485030	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcagaaagaaaaagtgaaagGagttaccaatcagactggac	19	5	11	6	0	1	4	1	1	0	3	1	6	1	6	1	2	1	2	1	2	6	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:38485030G>C	ENST00000373014.4	+	6	603	c.542G>C	c.(541-543)gGa>gCa	p.G181A	UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	181					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAAGTGAAAGGAGTTACCAAT	0.408													19	89					0	0	0	0	C	38485030	G	C	38485030	3	2	140	1	0	0	0	0	1	0	0	0	17190	1174	41	2	564	2	UTP11L	1	38485030	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	263	38485030	210765591	8	26306											
CYP4A11	1579	broad.mit.edu	37	chr1	47400197	47400197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctccagctccccctccttCtgtagttgagccttcctcag	4	14	6	17	0	3	1	1	1	2	0	7	1	6	1	6	0	2	3	6	0	1	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:47400197C>G	ENST00000310638.4	-	7	856	c.825G>C	c.(823-825)caG>caC	p.Q275H	CYP4A11_ENST00000371904.4_Missense_Mutation_p.Q276H|CYP4A11_ENST00000371905.1_Missense_Mutation_p.Q275H|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Missense_Mutation_p.E120Q	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	275					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CCCCCTCCTTCTGTAGTTGAG	0.532													11	77					0	0	0	0	G	47400197	C	G	47400197	3	3	140	1	0	0	0	0	1	0	0	0	4215	912	32	2	758	2	CYP4A11	1	47400197	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	8915167	47400197	201850424	9	26307											
CYP4A11	1579	broad.mit.edu	37	chr1	47400677	47400677	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaagacagaacctgtgTgctgatgggccagctggcag	12	6	15	8	0	0	3	0	1	0	2	0	4	0	4	2	3	3	3	2	3	3	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:47400677T>G	ENST00000310638.4	-	6	816	c.785A>C	c.(784-786)cAc>cCc	p.H262P	CYP4A11_ENST00000371904.4_Missense_Mutation_p.H262P|CYP4A11_ENST00000371905.1_Missense_Mutation_p.H262P|CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000457840.2_Intron	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	262					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGAACCTGTGTGCTGATGGGC	0.577													18	96					0	0	0	0	G	47400677	T	G	47400677	3	3	140	1	0	0	0	0	1	0	0	0	4215	1696	59	5	802	5	CYP4A11	1	47400677	Missense_Mutation	SNP	T	TCGA-CQ-5333-01A-01D-2394-08	480	47400677	201849944	10	26308											
EFCAB7	84455	broad.mit.edu	37	chr1	64017452	64017452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtatattctcaaggaaaatGagagtcaagcaaatctacag	17	10	8	6	0	3	1	2	1	2	1	4	3	3	2	0	1	2	2	0	1	8	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:64017452G>A	ENST00000371088.4	+	8	1249	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	335							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CAAGGAAAATGAGAGTCAAGC	0.308													5	32					0	0	0	0	A	64017452	G	A	64017452	3	1	140	1	0	0	0	0	1	0	0	0	4976	1291	45	2	1029	2	EFCAB7	1	64017452	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	16616775	64017452	185233169	11	26309											
SLC44A3	126969	broad.mit.edu	37	chr1	95310851	95310851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggcagtgctgctcgtcttGatttttgttctcagaaagag	8	14	11	8	1	2	3	1	1	2	2	4	3	2	3	0	1	2	4	0	1	1	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:95310851G>C	ENST00000271227.6	+	9	1005	c.903G>C	c.(901-903)ttG>ttC	p.L301F	RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000467909.1_Missense_Mutation_p.L253F|SLC44A3_ENST00000532427.1_Missense_Mutation_p.L221F|SLC44A3_ENST00000446120.2_Missense_Mutation_p.L265F|SLC44A3_ENST00000529450.1_Missense_Mutation_p.L269F|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000527077.1_Missense_Mutation_p.L233F	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	301						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.L301F(1)|p.L253F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TGCTCGTCTTGATTTTTGTTC	0.408													13	89					0	0	0	0	C	95310851	G	C	95310851	3	2	140	1	0	0	0	0	1	0	0	0	14725	1281	45	2	937	2	SLC44A3	1	95310851	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	31293399	95310851	153939770	12	26310											
FLG2	388698	broad.mit.edu	37	chr1	152325211	152325211	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggaactatggattctGactgtccatgttgagatcca	10	13	9	9	0	2	2	1	2	2	1	5	5	4	4	2	2	1	1	2	2	2	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:152325211G>T	ENST00000388718.5	-	3	5123	c.5051C>A	c.(5050-5052)tCa>tAa	p.S1684*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1684							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATGGATTCTGACTGTCCATG	0.488													56	350					1.63038e-21	1.90101e-21	1	0	T	152325211	G	T	152325211	4	4	140	1	0	0	0	0	0	1	0	0	5968	1294	45	2	2128	2	FLG2	1	152325211	Nonsense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	57014360	152325211	96925410	13	26311											
S100A13	6284	broad.mit.edu	37	chr1	153598850	153598850	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttgaactcgttgacgctGaggctatccttccggccctc	5	13	9	14	3	1	3	0	3	1	0	5	3	3	3	3	2	1	3	3	2	2	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:153598850G>A	ENST00000368699.1	-	4	602	c.99C>T	c.(97-99)ctC>ctT	p.L33L	RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000339556.4_Silent_p.L33L|S100A13_ENST00000392622.1_Silent_p.L33L|S100A13_ENST00000440685.2_Silent_p.L33L|S100A13_ENST00000392623.1_Silent_p.L33L	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	33	EF-hand 1.				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	CGTTGACGCTGAGGCTATCCT	0.522													33	184					0	0	0	0	A	153598850	G	A	153598850	2	1	140	1	0	0	0	0	0	0	0	1	13860	1277	45	2		2	S100A13	1	153598850	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	1273639	153598850	95651771	14	26312											
PAPPA2	60676	broad.mit.edu	37	chr1	176709227	176709227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatttctcatccccacGggtcggcatctcagctgtgg	6	11	11	13	2	2	1	2	1	2	0	6	1	3	1	2	3	1	3	2	3	1	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:176709227G>A	ENST00000367662.3	+	14	5210	c.4046G>A	c.(4045-4047)cGg>cAg	p.R1349Q		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1349					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R1349P(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCATCCCCACGGGTCGGCATC	0.522													12	99					0	0	0	0	A	176709227	G	A	176709227	3	1	140	1	0	0	0	0	1	0	0	0	11504	1116	39	1	4149	1	PAPPA2	1	176709227	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	23110377	176709227	72541394	15	26313											
LAMC1	3915	broad.mit.edu	37	chr1	182992966	182992966	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccaggcagccatggacGagtgcacggacgagggcggg	8	3	19	11	4	0	0	0	0	0	0	0	4	0	2	2	5	3	2	2	5	0	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:182992966G>T	ENST00000258341.4	+	1	372	c.115G>T	c.(115-117)Gag>Tag	p.E39*		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	39					axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCATGGACGAGTGCACGGA	0.766													6	17					1.12685e-05	1.22005e-05	1	0	T	182992966	G	T	182992966	4	4	140	1	0	0	0	0	0	1	0	0	8667	1059	37	3	117	3	LAMC1	1	182992966	Nonsense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	6283739	182992966	66257655	16	26314											
NCF2	4688	broad.mit.edu	37	chr1	183556034	183556034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattgaaccacttacttctCtgtctggtagtagagcatcc	10	13	7	11	0	2	2	0	1	2	1	4	2	3	2	2	1	3	3	2	1	4	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:183556034C>T	ENST00000413720.1	-	2	527	c.253G>A	c.(253-255)Gag>Aag	p.E85K	NCF2_ENST00000367536.1_Missense_Mutation_p.E85K|NCF2_ENST00000367535.3_Missense_Mutation_p.E85K|NCF2_ENST00000418089.1_Missense_Mutation_p.E85K	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	85					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ACTTACTTCTCTGTCTGGTAG	0.507													6	87					0	0	0	0	T	183556034	C	T	183556034	3	4	140	1	0	0	0	0	1	0	0	0	10287	922	32	2	1383	2	NCF2	1	183556034	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	563068	183556034	65694587	17	26315											
HHAT	55733	broad.mit.edu	37	chr1	210637960	210637960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactccacccgccctcccccGctgcgtgagcaccatgttca	6	7	7	21	3	1	1	1	1	0	0	3	1	3	1	6	0	2	3	6	0	0	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:210637960G>A	ENST00000367010.1	+	8	1195	c.968G>A	c.(967-969)cGc>cAc	p.R323H	HHAT_ENST00000537898.1_Missense_Mutation_p.R258H|HHAT_ENST00000413764.2_Missense_Mutation_p.R323H|HHAT_ENST00000261458.3_Missense_Mutation_p.R323H|HHAT_ENST00000391905.3_Missense_Mutation_p.R323H|HHAT_ENST00000545781.1_Missense_Mutation_p.R260H|HHAT_ENST00000545154.1_Missense_Mutation_p.R324H|HHAT_ENST00000308852.6_Missense_Mutation_p.R278H|HHAT_ENST00000541565.1_Missense_Mutation_p.R186H|HHAT_ENST00000367009.1_Missense_Mutation_p.R13H	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	323					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GCCCTCCCCCGCTGCGTGAGC	0.592													11	65					0	0	0	0	A	210637960	G	A	210637960	3	1	140	1	0	0	0	0	1	0	0	0	7139	1087	38	1	1092	1	HHAT	1	210637960	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	27081926	210637960	38612661	18	26316											
COG2	22796	broad.mit.edu	37	chr1	230795361	230795361	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagattttgtcaatctttCaacaaacttggtaaacttta	13	16	5	7	0	3	1	2	0	1	1	3	1	3	1	0	1	4	2	0	1	6	7			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:230795361C>G	ENST00000534989.1	+	2	382	c.47C>G	c.(46-48)tCa>tGa	p.S16*	COG2_ENST00000535166.1_5'UTR|COG2_ENST00000366669.4_Nonsense_Mutation_p.S75*|COG2_ENST00000366668.3_Nonsense_Mutation_p.S75*|COG2_ENST00000494371.1_3'UTR			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	75					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTCAATCTTTCAACAAACTTG	0.353													12	52					0	0	0	0	G	230795361	C	G	230795361	4	3	140	1	0	0	0	0	0	1	0	0	3688	838	29	2	230	2	COG2	1	230795361	Nonsense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	20157401	230795361	18455260	19	26317											
TOMM20	9804	broad.mit.edu	37	chr1	235292010	235292010	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatacaccggcggcgatGgcgctgttccgacccaccat	7	6	11	17	6	0	0	0	0	0	0	1	2	1	0	5	3	1	3	5	3	1	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:235292010G>A	ENST00000366607.4	-	1	241	c.21C>T	c.(19-21)gcC>gcT	p.A7A		NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	7					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			CGGCGGCGATGGCGCTGTTCC	0.612													21	111					0	0	0	0	A	235292010	G	A	235292010	2	1	140	1	0	0	0	0	0	0	0	1	16448	1335	47	4		4	TOMM20	1	235292010	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	4496649	235292010	13958611	20	26318											
RYR2	6262	broad.mit.edu	37	chr1	237802319	237802319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccattctactttaggggaGagtgtggaggaaaatgcaaa	13	9	12	7	0	1	1	0	0	1	1	1	4	1	3	2	4	2	1	2	4	5	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:237802319G>C	ENST00000366574.2	+	46	7250	c.6933G>C	c.(6931-6933)gaG>gaC	p.E2311D	RYR2_ENST00000360064.6_Missense_Mutation_p.E2309D|RYR2_ENST00000542537.1_Missense_Mutation_p.E2295D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2311	4 X approximate repeats.		E -> D (in CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTAGGGGAGAGTGTGGAGG	0.388													3	28					0	0	0	0	C	237802319	G	C	237802319	3	2	140	1	0	0	0	0	1	0	0	0	13854	933	33	2	7115	2	RYR2	1	237802319	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	2510309	237802319	11448302	21	26319											
OR2T2	401992	broad.mit.edu	37	chr1	248616180	248616180	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcctgccttccccgggcttCtctttgcaatagtcttctcc	4	15	6	16	1	3	0	0	0	3	0	7	0	5	0	5	1	2	2	5	1	2	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:248616180C>G	ENST00000342927.3	+	1	104	c.82C>G	c.(82-84)Ctc>Gtc	p.L28V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCCGGGCTTCTCTTTGCAAT	0.527													24	233					0	0	0	0	G	248616180	C	G	248616180	3	3	140	1	0	0	0	0	1	0	0	0	11091	913	32	2	84	2	OR2T2	1	248616180	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	10813861	248616180	634441	22	26320											
OR14I1	401994	broad.mit.edu	37	chr1	248844948	248844948	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattctgagcaccgttgagaAgatttggaaataggagatca	14	10	12	5	1	2	4	1	2	1	3	2	8	2	5	1	2	1	2	1	2	3	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:248844948A>G	ENST00000342623.3	-	1	681	c.658T>C	c.(658-660)Ttc>Ctc	p.F220L		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ACCGTTGAGAAGATTTGGAAA	0.478													9	85					0	0	0	0	G	248844948	A	G	248844948	3	3	140	1	0	0	0	0	1	0	0	0	11018	72	3	5	281	5	OR14I1	1	248844948	Missense_Mutation	SNP	A	TCGA-CQ-5333-01A-01D-2394-08	228768	248844948	405673	23	26321											
TAF1B	9014	broad.mit.edu	37	chr2	10059238	10059238	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagtagcatataaaaaaaGaggtaagtcaaattttgtct	18	11	7	5	0	2	1	1	0	1	1	2	1	2	1	1	1	1	3	1	1	8	6			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:10059238G>C	ENST00000263663.5	+	13	1528	c.1340G>C	c.(1339-1341)aGa>aCa	p.R447T	TAF1B_ENST00000396242.3_Missense_Mutation_p.R192T	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	447					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TATAAAAAAAGAGGTAAGTCA	0.338													6	46					0	0	0	0	C	10059238	G	C	10059238	3	2	140	1	0	0	0	0	1	0	0	0	15611	942	33	2	1390	2	TAF1B	2	10059238	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08		10059238	233140135	24	26322											
NOL10	79954	broad.mit.edu	37	chr2	10712233	10712233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcttttgtgtcttgacttCaggtgtccggccgaacgacg	5	13	11	12	4	3	1	1	1	2	0	4	3	4	1	3	2	1	0	3	2	1	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:10712233C>T	ENST00000345985.3	-	20	1991	c.1881G>A	c.(1879-1881)ctG>ctA	p.L627L	NOL10_ENST00000538384.1_Silent_p.L651L|NOL10_ENST00000542668.1_Silent_p.L627L|NOL10_ENST00000381685.5_Silent_p.L677L	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	677						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GTCTTGACTTCAGGTGTCCGG	0.478													24	152					0	0	0	0	T	10712233	C	T	10712233	2	4	140	1	0	0	0	0	0	0	0	1	10590	813	29	2		2	NOL10	2	10712233	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	652995	10712233	232487140	25	26323											
ETAA1	54465	broad.mit.edu	37	chr2	67631576	67631576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatccctcatttgccaatGaaattattaaagcatgtcat	14	14	5	8	0	2	2	2	2	0	0	3	2	3	2	2	0	2	1	2	0	5	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:67631576G>A	ENST00000272342.5	+	5	1892	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	588						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ATTTGCCAATGAAATTATTAA	0.348													15	88					0	0	0	0	A	67631576	G	A	67631576	3	1	140	1	0	0	0	0	1	0	0	0	5305	1291	45	2	1780	2	ETAA1	2	67631576	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	56919343	67631576	175567797	26	26324											
DYSF	8291	broad.mit.edu	37	chr2	71740879	71740879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaagacacagaggaccaggGactcactggagatgaggcgg	13	3	17	8	1	1	4	1	1	0	3	1	8	1	7	1	6	0	0	1	6	1	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:71740879G>A	ENST00000258104.3	+	6	768	c.491G>A	c.(490-492)gGa>gAa	p.G164E	DYSF_ENST00000429174.2_Missense_Mutation_p.G164E|DYSF_ENST00000413539.2_Missense_Mutation_p.G195E|DYSF_ENST00000410020.3_Missense_Mutation_p.G196E|DYSF_ENST00000409762.1_Missense_Mutation_p.G195E|DYSF_ENST00000410041.1_Missense_Mutation_p.G196E|DYSF_ENST00000409651.1_Missense_Mutation_p.G196E|DYSF_ENST00000409366.1_Missense_Mutation_p.G165E|DYSF_ENST00000394120.2_Missense_Mutation_p.G165E|DYSF_ENST00000409582.3_Missense_Mutation_p.G195E|DYSF_ENST00000409744.1_Missense_Mutation_p.G165E	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	164						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGGACCAGGGACTCACTGGA	0.642													4	34					0	0	0	0	A	71740879	G	A	71740879	3	1	140	1	0	0	0	0	1	0	0	0	4895	1174	41	2	705	2	DYSF	2	71740879	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	4109303	71740879	171458494	27	26325											
SLC4A5	57835	broad.mit.edu	37	chr2	74531626	74531626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaactcacgagtcctgctGataagatccatgctgctgtc	10	10	10	11	1	1	2	1	1	0	1	4	4	3	3	2	1	4	3	2	1	2	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:74531626G>A	ENST00000394019.2	-	7	658	c.261C>T	c.(259-261)atC>atT	p.I87I	SLC4A5_ENST00000346834.4_Silent_p.I87I|SLC4A5_ENST00000423644.1_Silent_p.I87I|SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000377632.1_Silent_p.I87I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.I87I|SLC4A5_ENST00000357822.5_Silent_p.I87I	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	87						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAGTCCTGCTGATAAGATCCA	0.597													18	97					0	0	0	0	A	74531626	G	A	74531626	2	1	140	1	0	0	0	0	0	0	0	1	14745	1280	45	2		2	SLC4A5	2	74531626	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	2790747	74531626	168667747	28	26326											
CTNNA2	1496	broad.mit.edu	37	chr2	80816547	80816547	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatgggacgacagcggcaAtgatatcattgtactggcca	13	8	11	9	2	1	1	1	1	0	0	1	3	1	2	1	3	2	2	1	3	4	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:80816547A>G	ENST00000466387.1	+	19	2850	c.2126A>G	c.(2125-2127)aAt>aGt	p.N709S	CTNNA2_ENST00000541047.1_Missense_Mutation_p.N709S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.N709S|CTNNA2_ENST00000343114.3_Missense_Mutation_p.N388S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.N743S|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.N709S|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.N709S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	709					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GACAGCGGCAATGATATCATT	0.478													12	75					0	0	0	0	G	80816547	A	G	80816547	3	3	140	1	0	0	0	0	1	0	0	0	4045	101	4	5	1972	5	CTNNA2	2	80816547	Missense_Mutation	SNP	A	TCGA-CQ-5333-01A-01D-2394-08	6284921	80816547	162382826	29	26327											
AFF3	3899	broad.mit.edu	37	chr2	100623782	100623782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatgttcatcgatcttgttCacaggagtctgaggaacccc	11	11	9	10	1	4	1	2	1	2	0	5	4	4	3	2	2	1	2	2	2	2	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:100623782C>T	ENST00000317233.4	-	5	550	c.315G>A	c.(313-315)gtG>gtA	p.V105V	AFF3_ENST00000409236.1_Silent_p.V105V|AFF3_ENST00000356421.2_Silent_p.V130V|AFF3_ENST00000409579.1_Silent_p.V130V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	105					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGATCTTGTTCACAGGAGTCT	0.458													8	68					0	0	0	0	T	100623782	C	T	100623782	2	4	140	1	0	0	0	0	0	0	0	1	358	813	29	2		2	AFF3	2	100623782	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	19807235	100623782	142575591	30	26328											
IL1RL2	8808	broad.mit.edu	37	chr2	102805656	102805656	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaacatggtataaaaattCtagcaaaatcccagtgtcca	16	11	6	8	0	1	0	0	0	1	0	3	0	3	0	2	1	2	3	2	1	8	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:102805656C>G	ENST00000264257.2	+	3	305	c.179C>G	c.(178-180)tCt>tGt	p.S60C	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.S60C|IL1RL2_ENST00000481806.1_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	60	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TATAAAAATTCTAGCAAAATC	0.413													9	54					0	0	0	0	G	102805656	C	G	102805656	3	3	140	1	0	0	0	0	1	0	0	0	7717	913	32	2	185	2	IL1RL2	2	102805656	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	2181874	102805656	140393717	31	26329											
RANBP2	5903	broad.mit.edu	37	chr2	109399178	109399178	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtgcggacggtgaacctCtagggcggataactatggaa	10	10	14	7	3	1	1	0	1	1	0	1	4	1	4	1	5	3	0	1	5	5	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:109399178C>T	ENST00000283195.6	+	28	9355	c.9229C>T	c.(9229-9231)Cta>Tta	p.L3077L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3077	PPIase cyclophilin-type.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CGGTGAACCTCTAGGGCGGAT	0.423													28	180					0	0	0	0	T	109399178	C	T	109399178	2	4	140	1	0	0	0	0	0	0	0	1	13110	912	32	2		2	RANBP2	2	109399178	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	6593522	109399178	133800195	32	26330											
GTDC1	79712	broad.mit.edu	37	chr2	144704677	144704677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttaccatgtagggctGcccaagaaaacggagcgatt	13	9	11	8	2	0	2	0	1	0	1	0	4	0	3	2	2	4	2	2	2	6	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:144704677G>T	ENST00000409214.1	-	12	1597	c.1319C>A	c.(1318-1320)gCa>gAa	p.A440E	GTDC1_ENST00000392869.1_Missense_Mutation_p.A440E|GTDC1_ENST00000241391.5_Missense_Mutation_p.A355E|GTDC1_ENST00000409298.1_Missense_Mutation_p.A322E|GTDC1_ENST00000463875.2_Missense_Mutation_p.A311E|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000542155.1_Missense_Mutation_p.A440E|GTDC1_ENST00000392867.3_Missense_Mutation_p.A355E|GTDC1_ENST00000344850.4_Missense_Mutation_p.A440E	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	440					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ATGTAGGGCTGCCCAAGAAAA	0.448													8	43					0.00307968	0.0031452	1	0	T	144704677	G	T	144704677	3	4	140	1	0	0	0	0	1	0	0	0	6901	1319	46	4	61	4	GTDC1	2	144704677	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	35305499	144704677	98494696	33	26331											
PKP4	8502	broad.mit.edu	37	chr2	159519946	159519946	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagaacctctctgctGgcaactggaaggtaggatga	10	9	11	11	0	2	2	0	1	2	1	4	4	2	4	2	4	3	3	2	4	4	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:159519946G>C	ENST00000389757.3	+	15	2691	c.2566G>C	c.(2566-2568)Ggc>Cgc	p.G856R	PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.G856R	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	856				G -> S (in Ref. 1; CAA57478).	cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCTCTCTGCTGGCAACTGGAA	0.453										HNSCC(62;0.18)			8	50					0	0	0	0	C	159519946	G	C	159519946	3	2	140	1	0	0	0	0	1	0	0	0	12059	1348	47	4	2620	4	PKP4	2	159519946	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	14815269	159519946	83679427	34	26332											
SCN1A	6323	broad.mit.edu	37	chr2	166852540	166852540	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tactcctggtcgaggtatagGcttttgcggttttttcgatc	5	17	11	8	3	0	0	0	0	0	0	4	2	1	0	1	4	2	3	1	4	3	8			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:166852540G>C	ENST00000423058.2	-	24	4581	c.4564C>G	c.(4564-4566)Cct>Gct	p.P1522A	SCN1A_ENST00000375405.3_Missense_Mutation_p.P1511A|SCN1A_ENST00000409050.1_Missense_Mutation_p.P1494A|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.P1522A|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1522						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGAGGTATAGGCTTTTGCGGT	0.333													7	58					0	0	0	0	C	166852540	G	C	166852540	3	2	140	1	0	0	0	0	1	0	0	0	14001	1203	42	4	1477	4	SCN1A	2	166852540	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	7332594	166852540	76346833	35	26333											
CASP8	841	broad.mit.edu	37	chr2	202149538	202149538	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaaatttcacttttcaGgggctttgaccacgaccttt	8	16	7	10	1	3	1	3	1	0	0	3	2	3	1	2	2	0	2	2	2	1	6			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:202149538G>C	ENST00000358485.4	+	8	1175		c.e8-1		CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000264275.5_Splice_Site	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCACTTTTCAGGGGCTTTGAC	0.418										HNSCC(4;0.00038)			8	41					0	0	0	0	C	202149538	G	C	202149538	5	2	140	1	0	0	0	0	0	0	1	0	2702	1014	35	4	1109	4	CASP8	2	202149538	Splice_Site	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	35296998	202149538	41049835	36	26334											
CASP8	841	broad.mit.edu	37	chr2	202151270	202151270	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatggggaaacagatgcctCagcctactttcacactaaga	14	8	8	11	0	2	2	2	0	0	2	2	3	2	3	2	2	4	0	2	2	3	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:202151270C>T	ENST00000358485.4	+	9	1766	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q465*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	465					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.Q482*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACAGATGCCTCAGCCTACTTT	0.373										HNSCC(4;0.00038)			11	62					0	0	0	0	T	202151270	C	T	202151270	4	4	140	1	0	0	0	0	0	1	0	0	2702	827	29	2	1704	2	CASP8	2	202151270	Nonsense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	1732	202151270	41048103	37	26335											
PRKAG3	53632	broad.mit.edu	37	chr2	219694951	219694951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctccacatcatctgtgctgGagcctgcagctgaggctgta	7	10	12	12	0	2	1	1	1	1	0	3	2	3	2	2	2	4	6	2	2	1	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:219694951G>C	ENST00000439262.2	-	4	403	c.308C>G	c.(307-309)tCc>tGc	p.S103C	PRKAG3_ENST00000529249.1_Missense_Mutation_p.S128C|PRKAG3_ENST00000392098.3_Missense_Mutation_p.S128C|PRKAG3_ENST00000545803.1_5'UTR	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	128					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCTGTGCTGGAGCCTGCAGC	0.632													3	19					0	0	0	0	C	219694951	G	C	219694951	3	2	140	1	0	0	0	0	1	0	0	0	12582	1174	41	2	1126	2	PRKAG3	2	219694951	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	17543681	219694951	23504422	38	26336											
C2orf57	165100	broad.mit.edu	37	chr2	232458247	232458247	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaccaagtctgctgaggaGaaagctgagcatccaaaggc	14	5	11	11	0	1	3	0	2	1	1	2	4	2	3	3	2	3	3	3	2	3	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:232458247G>C	ENST00000313965.2	+	1	673	c.585G>C	c.(583-585)gaG>gaC	p.E195D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	195										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTGCTGAGGAGAAAGCTGAGC	0.582													15	75					0	0	0	0	C	232458247	G	C	232458247	3	2	140	1	0	0	0	0	1	0	0	0	2198	933	33	2	587	2	C2orf57	2	232458247	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	12763296	232458247	10741126	39	26337											
UGT1A10	54575	broad.mit.edu	37	chr2	234545887	234545887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctccaaacccctgtcaCggcatatgatctctacagtc	11	11	5	14	1	3	1	1	1	2	0	6	1	3	1	3	1	2	1	3	1	4	3	rs149598882	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:234545887C>T	ENST00000344644.5	+	1	788	c.719C>T	c.(718-720)aCg>aTg	p.T240M	UGT1A10_ENST00000373445.1_Missense_Mutation_p.T240M|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		ACCCCTGTCACGGCATATGAT	0.433													123	312					0	0	0	0	T	234545887	C	T	234545887	3	4	140	1	0	0	0	0	1	0	0	0	17041	536	19	1	721	1	UGT1A10	2	234545887	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	2087640	234545887	8653486	40	26338											
TIMP4	7079	broad.mit.edu	37	chr3	12198897	12198897	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtacctttatctgtttGatttcataccggagcatttt	8	18	6	9	1	2	1	1	1	1	0	2	2	2	2	3	1	3	3	3	1	3	8			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:12198897G>T	ENST00000287814.4	-	2	735	c.225C>A	c.(223-225)atC>atA	p.I75I	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	75	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						TTATCTGTTTGATTTCATACC	0.512													3	38					2.56e-06	2.82483e-06	1	0	T	12198897	G	T	12198897	2	4	140	1	0	0	0	0	0	0	0	1	16014	1280	45	2		2	TIMP4	3	12198897	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08		12198897	185823533	41	26339											
TMEM40	55287	broad.mit.edu	37	chr3	12779245	12779245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttcttaactgagaggcctCcacttctccttaagaacaag	11	12	6	12	0	3	2	0	1	3	2	5	3	4	2	3	1	2	0	3	1	4	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:12779245C>T	ENST00000314124.7	-	8	789	c.433G>A	c.(433-435)Gag>Aag	p.E145K	TMEM40_ENST00000435218.2_Missense_Mutation_p.E115K|TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000435575.1_Missense_Mutation_p.E69K|TMEM40_ENST00000431022.2_Missense_Mutation_p.E161K|TMEM40_ENST00000264728.8_Missense_Mutation_p.E145K	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	145						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TGAGAGGCCTCCACTTCTCCT	0.413													5	68					0	0	0	0	T	12779245	C	T	12779245	3	4	140	1	0	0	0	0	1	0	0	0	16257	864	30	2	288	2	TMEM40	3	12779245	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	580348	12779245	185243185	42	26340											
STAC	6769	broad.mit.edu	37	chr3	36587704	36587704	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgtgagttctgaagaaGaacaagatggttttatcaga	13	12	11	5	1	3	6	1	2	2	4	3	6	3	6	0	1	2	2	0	1	5	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:36587704G>T	ENST00000273183.3	+	11	1432	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*	STAC_ENST00000457375.2_Nonsense_Mutation_p.E317*	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	378					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TTCTGAAGAAGAACAAGATGG	0.428													16	79					1.45105e-14	1.68509e-14	1	0	T	36587704	G	T	36587704	4	4	140	1	0	0	0	0	0	1	0	0	15329	943	33	2	1174	2	STAC	3	36587704	Nonsense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	23808459	36587704	161434726	43	26341											
CCR3	1232	broad.mit.edu	37	chr3	46307450	46307450	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcttcctatcaatccatCttatttggaaatgactgtga	10	16	5	10	0	3	2	1	2	2	0	6	3	5	3	2	1	0	0	2	1	4	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:46307450C>G	ENST00000357422.2	+	4	1344	c.801C>G	c.(799-801)atC>atG	p.I267M	CCR3_ENST00000545097.1_Missense_Mutation_p.I288M|CCR3_ENST00000541018.1_Missense_Mutation_p.I267M|CCR3_ENST00000395942.2_Missense_Mutation_p.I267M|CCR3_ENST00000395940.2_Missense_Mutation_p.I267M			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	267					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ATCAATCCATCTTATTTGGAA	0.488													22	65					0	0	0	0	G	46307450	C	G	46307450	3	3	140	1	0	0	0	0	1	0	0	0	2971	903	32	2	870	2	CCR3	3	46307450	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	9719746	46307450	151714980	44	26342											
USP19	10869	broad.mit.edu	37	chr3	49152992	49152992	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggcagacacaccttcttCtcttcctcttcctcctcctc	4	14	3	20	0	3	1	0	0	3	1	9	1	7	1	6	1	0	1	6	1	0	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:49152992C>G	ENST00000453664.1	-	12	2055	c.1737G>C	c.(1735-1737)gaG>gaC	p.E579D	USP19_ENST00000398898.2_Missense_Mutation_p.E528D|USP19_ENST00000417901.1_Missense_Mutation_p.E591D|USP19_ENST00000398888.2_Missense_Mutation_p.E488D|USP19_ENST00000398896.1_Missense_Mutation_p.E296D|USP19_ENST00000398892.3_Missense_Mutation_p.E528D|USP19_ENST00000434032.2_Missense_Mutation_p.E589D	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	488					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAccttcttctcttcctctt	0.552													12	36					0	0	0	0	G	49152992	C	G	49152992	3	3	140	1	0	0	0	0	1	0	0	0	17146	912	32	2	2556	2	USP19	3	49152992	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	2845542	49152992	148869438	45	26343											
LAMB2	3913	broad.mit.edu	37	chr3	49168546	49168546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcccaacgtgtgtagaCgagtcaggttcacccgtagg	8	10	12	11	3	3	1	2	0	1	1	4	2	3	1	2	2	1	3	2	2	3	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:49168546C>T	ENST00000418109.1	-	8	916	c.752G>A	c.(751-753)cGt>cAt	p.R251H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R251H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	251	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGTGTGTAGACGAGTCAGGTT	0.582													11	56					0	0	0	0	T	49168546	C	T	49168546	3	4	140	1	0	0	0	0	1	0	0	0	8664	536	19	1	4748	1	LAMB2	3	49168546	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	15554	49168546	148853884	46	26344											
RHOA	387	broad.mit.edu	37	chr3	49412948	49412948	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgggaactggtccttgctGaagactatgagcaagcatgt	10	11	12	8	0	1	3	0	2	1	1	2	4	2	4	1	2	4	3	1	2	4	2	rs147354494		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:49412948G>A	ENST00000418115.1	-	2	459	c.75C>T	c.(73-75)ttC>ttT	p.F25F	RHOA_ENST00000454011.2_Silent_p.F25F|RHOA_ENST00000422781.1_Silent_p.F25F	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	25					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GGTCCTTGCTGAAGACTATGA	0.453													11	102					0	0	0	0	A	49412948	G	A	49412948	2	1	140	1	0	0	0	0	0	0	0	1	13414	1281	45	2		2	RHOA	3	49412948	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	244402	49412948	148609482	47	26345											
PTPRG	5793	broad.mit.edu	37	chr3	62254725	62254725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagcgaaaatgtgatcagTattggccaacagagaacagt	15	8	11	7	1	1	2	1	1	0	1	1	4	1	2	1	1	4	2	1	1	5	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:62254725T>C	ENST00000474889.1	+	20	3267	c.2890T>C	c.(2890-2892)Tat>Cat	p.Y964H	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.Y935H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	964	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATGTGATCAGTATTGGCCAAC	0.358													16	57					0	0	0	0	C	62254725	T	C	62254725	3	2	140	1	0	0	0	0	1	0	0	0	12884	1638	57	5	2968	5	PTPRG	3	62254725	Missense_Mutation	SNP	T	TCGA-CQ-5333-01A-01D-2394-08	12841777	62254725	135767705	48	26346											
ARHGAP31	57514	broad.mit.edu	37	chr3	119101981	119101981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagatgcagccttccttgCagtccgggtccagcaggtgg	6	9	15	11	1	0	1	0	0	0	1	3	2	3	1	4	4	4	3	4	4	0	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:119101981C>T	ENST00000264245.4	+	6	1122	c.590C>T	c.(589-591)gCa>gTa	p.A197V		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	197	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCTTCCTTGCAGTCCGGGTC	0.453													24	110					0	0	0	0	T	119101981	C	T	119101981	3	4	140	1	0	0	0	0	1	0	0	0	882	710	25	4	612	4	ARHGAP31	3	119101981	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	56847256	119101981	78920449	49	26347											
IFT122	55764	broad.mit.edu	37	chr3	129183550	129183550	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatacggaacaaaaatggCgaggagaaagtaaagatcga	20	4	12	5	3	0	2	0	0	0	2	1	6	0	3	0	3	3	2	0	3	7	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:129183550C>T	ENST00000296266.3	+	8	834	c.642C>T	c.(640-642)ggC>ggT	p.G214G	IFT122_ENST00000507564.1_Silent_p.G214G|IFT122_ENST00000348417.2_Silent_p.G163G|IFT122_ENST00000504021.1_Silent_p.G116G|IFT122_ENST00000440957.2_Silent_p.G13G|IFT122_ENST00000431818.2_Silent_p.G13G|IFT122_ENST00000349441.2_Silent_p.G111G|IFT122_ENST00000347300.2_Silent_p.G163G	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	163					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACAAAAATGGCGAGGAGAAAG	0.507													31	117					0	0	0	0	T	129183550	C	T	129183550	2	4	140	1	0	0	0	0	0	0	0	1	7608	755	27	1		1	IFT122	3	129183550	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	10081569	129183550	68838880	50	26348											
DNAJC13	23317	broad.mit.edu	37	chr3	132222148	132222148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacaagcaactccagaaaatCcaaccataaggaaaagctta	21	5	5	10	0	0	1	0	0	0	1	2	2	2	2	3	1	5	2	3	1	10	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:132222148C>T	ENST00000260818.6	+	41	5055	c.4807C>T	c.(4807-4809)Cca>Tca	p.P1603S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1603							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCCAGAAAATCCAACCATAAG	0.473													4	78					0	0	0	0	T	132222148	C	T	132222148	3	4	140	1	0	0	0	0	1	0	0	0	4668	855	30	2	4965	2	DNAJC13	3	132222148	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	3038598	132222148	65800282	51	26349											
RAP2B	5912	broad.mit.edu	37	chr3	152880888	152880888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagggcaaggccctggctGaggagtggagctgccccttc	6	6	18	11	0	0	1	0	1	0	0	1	4	0	4	3	6	2	3	3	6	1	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:152880888G>A	ENST00000323534.2	+	1	860	c.406G>A	c.(406-408)Gag>Aag	p.E136K		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	136					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGCCCTGGCTGAGGAGTGGAG	0.627													3	28					0	0	0	0	A	152880888	G	A	152880888	3	1	140	1	0	0	0	0	1	0	0	0	13123	1291	45	2	408	2	RAP2B	3	152880888	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	20658740	152880888	45141542	52	26350											
ZBBX	79740	broad.mit.edu	37	chr3	167023497	167023497	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagattgctcaattccaaGgattctttgatgtcttgaga	11	15	8	7	0	3	3	1	2	2	2	4	5	4	4	1	1	2	1	1	1	3	6			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:167023497G>T	ENST00000392766.2	-	17	1999	c.1659C>A	c.(1657-1659)tcC>tcA	p.S553S	ZBBX_ENST00000392767.2_Silent_p.S553S|ZBBX_ENST00000392764.1_Silent_p.S524S|ZBBX_ENST00000307529.5_Silent_p.S553S|ZBBX_ENST00000455345.2_Silent_p.S553S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	553						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCAATTCCAAGGATTCTTTGA	0.328													4	59					0.014758	0.0149658	1	0	T	167023497	G	T	167023497	2	4	140	1	0	0	0	0	0	0	0	1	17612	987	35	4		4	ZBBX	3	167023497	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	14142609	167023497	30998933	53	26351											
GHSR	2693	broad.mit.edu	37	chr3	172166087	172166087	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcccgccagcagcggcgcGgggaagagctgcagcagctc	8	2	16	15	5	0	1	0	0	0	1	1	2	0	2	2	3	6	5	2	3	1	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:172166087G>A	ENST00000241256.2	-	1	159	c.117C>T	c.(115-117)ccC>ccT	p.P39P	GHSR_ENST00000427970.1_Silent_p.P39P	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	39					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCAGCGGCGCGGGGAAGAGCT	0.687													7	42					0	0	0	0	A	172166087	G	A	172166087	2	1	140	1	0	0	0	0	0	0	0	1	6426	1103	39	1		1	GHSR	3	172166087	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	5142590	172166087	25856343	54	26352											
KCNMB2	10242	broad.mit.edu	37	chr3	178560474	178560474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaatgtggaaaaaattttGaagaatccatgtccctggtg	14	12	9	6	0	0	2	0	1	0	1	2	3	2	3	2	2	0	0	2	2	7	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:178560474G>A	ENST00000432997.1	+	5	809	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	KCNMB2_ENST00000358316.3_Missense_Mutation_p.E153K|KCNMB2_ENST00000452583.1_Missense_Mutation_p.E153K|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.E153K|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	153					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			AAAAAATTTTGAAGAATCCAT	0.398													35	98					0	0	0	0	A	178560474	G	A	178560474	3	1	140	1	0	0	0	0	1	0	0	0	8128	1291	45	2	471	2	KCNMB2	3	178560474	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	6394387	178560474	19461956	55	26353											
THPO	7066	broad.mit.edu	37	chr3	184090793	184090793	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgggagctcgttcagtgtGaggactagagaggttctgct	7	13	15	6	1	2	2	1	1	1	1	3	5	2	4	0	3	2	4	0	3	1	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:184090793G>C	ENST00000204615.7	-	6	784	c.570C>G	c.(568-570)ctC>ctG	p.L190L	THPO_ENST00000445696.2_Silent_p.L186L|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Intron|THPO_ENST00000477594.1_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	190					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGTTCAGTGTGAGGACTAGAG	0.577													32	67					0	0	0	0	C	184090793	G	C	184090793	2	2	140	1	0	0	0	0	0	0	0	1	15966	1290	45	2		2	THPO	3	184090793	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	5530319	184090793	13931637	56	26354											
ETV5	2119	broad.mit.edu	37	chr3	185797649	185797649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggcatcatctttggcaTctgcaggggctgatgtggtg	6	13	14	8	0	4	1	2	1	2	0	4	1	4	1	0	5	1	4	0	5	0	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:185797649T>C	ENST00000306376.5	-	7	853	c.607A>G	c.(607-609)Atg>Gtg	p.M203V	ETV5_ENST00000434744.1_Missense_Mutation_p.M203V|ETV5_ENST00000537818.1_Missense_Mutation_p.M245V|ETV5-AS1_ENST00000453370.1_RNA	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	203					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATCTTTGGCATCTGCAGGGGC	0.562			T	"TMPRSS2, SCL45A3"	Prostate								15	100					0	0	0	0	C	185797649	T	C	185797649	3	2	140	1	0	0	0	0	1	0	0	0	5320	1435	50	5	953	5	ETV5	3	185797649	Missense_Mutation	SNP	T	TCGA-CQ-5333-01A-01D-2394-08	1706856	185797649	12224781	57	26355											
BCL6	604	broad.mit.edu	37	chr3	187447612	187447612	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtggctgtacatggaataaGaggctggcggtgtggacagg	9	8	19	5	1	0	1	0	0	0	1	0	3	0	3	0	8	1	3	0	8	3	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:187447612G>C	ENST00000406870.2	-	5	947	c.581C>G	c.(580-582)tCt>tGt	p.S194C	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.S194C|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.S194C	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	194					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CATGGAATAAGAGGCTGGCGG	0.617			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								12	78					0	0	0	0	C	187447612	G	C	187447612	3	2	140	1	0	0	0	0	1	0	0	0	1380	942	33	2	1563	2	BCL6	3	187447612	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	1649963	187447612	10574818	58	26356											
ATP13A4	84239	broad.mit.edu	37	chr3	193185105	193185105	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggaggggatgctaacCagtctgcagtaccacggctc	13	6	12	10	1	1	0	0	0	1	0	2	2	1	2	2	4	4	4	2	4	4	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:193185105C>A	ENST00000342695.4	-	10	1436	c.1114_splice	c.e10+1	p.G372_splice	ATP13A4_ENST00000392443.3_Splice_Site_p.G372_splice|ATP13A4_ENST00000295548.3_Splice_Site_p.G372_splice	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	372					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGATGCTAACCAGTCTGCAGT	0.443													6	49					0.00116845	0.00119755	1	0	A	193185105	C	A	193185105	5	1	140	1	0	0	0	0	0	0	1	0	1130	608	21	4	2560	4	ATP13A4	3	193185105	Splice_Site	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	5737493	193185105	4837325	59	26357											
LRRC15	131578	broad.mit.edu	37	chr3	194080244	194080244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtagtcttccacagggCtggttagctcagtggtagaa	9	11	13	8	0	2	1	1	0	1	1	3	1	3	1	1	3	1	5	1	3	4	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:194080244C>T	ENST00000347624.3	-	2	1614	c.1529G>A	c.(1528-1530)aGc>aAc	p.S510N	LRRC15_ENST00000439944.2_Missense_Mutation_p.S516N|LRRC15_ENST00000428839.1_Missense_Mutation_p.S516N	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	510						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTCCACAGGGCTGGTTAGCTC	0.577													9	52					0	0	0	0	T	194080244	C	T	194080244	3	4	140	1	0	0	0	0	1	0	0	0	9034	797	28	4	220	4	LRRC15	3	194080244	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	895139	194080244	3942186	60	26358											
MUC4	4585	broad.mit.edu	37	chr3	195516850	195516850	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctattgctgagaccttaGaggggacccttggaatagtg	9	10	12	10	0	0	2	0	1	0	2	0	5	0	4	4	3	1	1	4	3	4	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:195516850G>C	ENST00000463781.3	-	2	2060	c.1601C>G	c.(1600-1602)tCt>tGt	p.S534C	MUC4_ENST00000475231.1_Missense_Mutation_p.S534C|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	539					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGACCTTAGAGGGGACCCT	0.542													38	107					0	0	0	0	C	195516850	G	C	195516850	3	2	140	1	0	0	0	0	1	0	0	0	10048	942	33	2		2	MUC4	3	195516850	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	1436606	195516850	2505580	61	26359											
IQCG	84223	broad.mit.edu	37	chr3	197665571	197665571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtccttcctcagttattaaCggactgggtatttttgtgat	7	17	10	7	1	1	1	1	1	0	0	3	2	3	2	2	3	1	2	2	3	3	6			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:197665571C>T	ENST00000265239.6	-	5	787	c.363G>A	c.(361-363)ccG>ccA	p.P121P	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Silent_p.P121P|IQCG_ENST00000453254.1_Silent_p.P121P	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	121										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CAGTTATTAACGGACTGGGTA	0.388													80	281					0	0	0	0	T	197665571	C	T	197665571	2	4	140	1	0	0	0	0	0	0	0	1	7863	523	19	1		1	IQCG	3	197665571	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	2148721	197665571	356859	62	26360											
ZNF518B	85460	broad.mit.edu	37	chr4	10446619	10446619	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccattgttgtgcacactaGaatttggcataataaaatca	14	14	6	7	0	1	1	1	0	0	1	2	1	2	1	1	1	1	3	1	1	5	7			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:10446619G>C	ENST00000326756.3	-	3	1772	c.1334C>G	c.(1333-1335)tCt>tGt	p.S445C		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GTGCACACTAGAATTTGGCAT	0.328													8	74					0	0	0	0	C	10446619	G	C	10446619	3	2	140	1	0	0	0	0	1	0	0	0	18058	942	33	2	1894	2	ZNF518B	4	10446619	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08		10446619	180707657	63	26361											
ATP8A1	10396	broad.mit.edu	37	chr4	42524296	42524296	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaaatctcagccacagCaaaacataaagttcttaacc	16	9	4	12	0	3	1	1	1	3	0	4	1	3	1	2	0	4	2	2	0	6	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:42524296C>G	ENST00000381668.5	-	22	2059	c.1828G>C	c.(1828-1830)Gct>Cct	p.A610P	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A595P	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	610					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCAGCCACAGCAAAACATAAA	0.423													4	61					0	0	0	0	G	42524296	C	G	42524296	3	3	140	1	0	0	0	0	1	0	0	0	1196	710	25	4	1730	4	ATP8A1	4	42524296	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	32077677	42524296	148629980	64	26362											
ARHGAP24	83478	broad.mit.edu	37	chr4	86844894	86844894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgggtgaagtcaatccGccgagtcatatggggacctt	10	9	13	9	2	2	2	2	1	0	1	3	4	3	3	3	3	0	0	3	3	3	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:86844894G>A	ENST00000395184.1	+	4	828	c.362G>A	c.(361-363)cGc>cAc	p.R121H	ARHGAP24_ENST00000503995.1_Missense_Mutation_p.R121H|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R26H	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	121	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGTCAATCCGCCGAGTCATA	0.483													6	48					0	0	0	0	A	86844894	G	A	86844894	3	1	140	1	0	0	0	0	1	0	0	0	875	1087	38	1	372	1	ARHGAP24	4	86844894	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	44320598	86844894	104309382	65	26363											
DSPP	1834	broad.mit.edu	37	chr4	88534236	88534236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagcataggtcaaaattcaGatagtaaagaatattatgac	18	11	8	4	0	2	3	2	1	0	2	2	3	2	3	0	1	1	3	0	1	10	7			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:88534236G>A	ENST00000399271.1	+	4	1018	c.898G>A	c.(898-900)Gat>Aat	p.D300N	DSPP_ENST00000282478.7_Missense_Mutation_p.D300N|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	300					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TCAAAATTCAGATAGTAAAGA	0.433													7	46					0	0	0	0	A	88534236	G	A	88534236	3	1	140	1	0	0	0	0	1	0	0	0	4818	942	33	2	908	2	DSPP	4	88534236	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	1689342	88534236	102620040	66	26364											
IBSP	3381	broad.mit.edu	37	chr4	88732603	88732603	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatgaaaacgaagaaagCgaagcagaagtggatgaaaa	22	3	13	3	2	0	4	0	2	0	2	0	8	0	6	0	2	3	1	0	2	9	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:88732603C>T	ENST00000226284.5	+	7	562	c.495C>T	c.(493-495)agC>agT	p.S165S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	165	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification			p.S165S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		acgaagaaagcgaagcagaag	0.458													6	41					0	0	0	0	T	88732603	C	T	88732603	2	4	140	1	0	0	0	0	0	0	0	1	7528	767	27	1		1	IBSP	4	88732603	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	198367	88732603	102421673	67	26365											
MMAA	166785	broad.mit.edu	37	chr4	146563519	146563519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttccaccgtaggattGtctgggccccctggtgctgg	3	13	12	13	1	2	0	0	0	2	0	4	1	3	1	4	4	1	2	4	4	1	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:146563519G>T	ENST00000281317.5	+	3	1654	c.444G>T	c.(442-444)ttG>ttT	p.L148F	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	148						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGTAGGATTGTCTGGGCCCC	0.378													15	84					0.0242445	0.0244997	1	0	T	146563519	G	T	146563519	3	4	140	1	0	0	0	0	1	0	0	0	9708	1368	48	4	450	4	MMAA	4	146563519	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	57830916	146563519	44590757	68	26366											
RXFP1	59350	broad.mit.edu	37	chr4	159568024	159568024	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagaatacaataagcatgCgcagctgtggatggagagta	14	8	14	5	1	0	2	0	0	0	2	0	5	0	3	0	3	4	4	0	3	5	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:159568024C>A	ENST00000307765.5	+	16	1678	c.1427C>A	c.(1426-1428)gCg>gAg	p.A476E	RXFP1_ENST00000448688.2_Missense_Mutation_p.A371E|RXFP1_ENST00000343542.5_Missense_Mutation_p.A428E|RXFP1_ENST00000460056.2_Missense_Mutation_p.A395E|RXFP1_ENST00000470033.1_Missense_Mutation_p.A443E	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	476						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.A476V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AATAAGCATGCGCAGCTGTGG	0.418													12	93					4.36969e-10	4.89677e-10	1	0	A	159568024	C	A	159568024	3	1	140	1	0	0	0	0	1	0	0	0	13844	768	27	3	1489	3	RXFP1	4	159568024	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	13004505	159568024	31586252	69	26367											
LIFR	3977	broad.mit.edu	37	chr5	38481728	38481728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgttctgaaaaaagtttGtaaaggaccaccctcctcca	12	12	7	10	0	1	1	0	1	1	0	3	2	3	2	4	1	0	4	4	1	5	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:38481728G>T	ENST00000263409.4	-	20	3425	c.3263C>A	c.(3262-3264)aCa>aAa	p.T1088K	LIFR_ENST00000453190.2_Missense_Mutation_p.T1088K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1088					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAAAAAGTTTGTAAAGGACCA	0.413			T	PLAG1	salivary adenoma								27	128					4.87955e-14	5.64382e-14	1	0	T	38481728	G	T	38481728	3	4	140	1	0	0	0	0	1	0	0	0	8834	1377	48	4	34	4	LIFR	5	38481728	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08		38481728	142433532	70	26368											
GFM2	84340	broad.mit.edu	37	chr5	74035904	74035904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctttgtttttcagggcacttCcacaaagcacaggcactgct	9	12	8	12	0	1	0	1	0	0	0	2	0	2	0	1	2	2	5	1	2	1	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:74035904C>G	ENST00000296805.3	-	12	1446	c.989G>C	c.(988-990)gGa>gCa	p.G330A	GFM2_ENST00000427854.2_Missense_Mutation_p.G330A|GFM2_ENST00000345239.2_Missense_Mutation_p.G330A|GFM2_ENST00000509430.1_Missense_Mutation_p.G330A	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	330					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CAGGGCACTTCCACAAAGCAC	0.418													5	47					0	0	0	0	G	74035904	C	G	74035904	3	3	140	1	0	0	0	0	1	0	0	0	6393	855	30	2	1422	2	GFM2	5	74035904	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	35554176	74035904	106879356	71	26369											
TMEM161B	153396	broad.mit.edu	37	chr5	87502921	87502921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacaaagaaaaaaaatcCaaaggtgacacaaacagatc	22	6	6	7	0	0	4	0	2	0	2	2	4	1	4	1	1	1	0	1	1	7	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:87502921C>T	ENST00000296595.6	-	6	647	c.523G>A	c.(523-525)Gga>Aga	p.G175R	TMEM161B_ENST00000511218.1_5'UTR|TMEM161B_ENST00000512429.1_Missense_Mutation_p.G164R|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000514135.1_Missense_Mutation_p.G175R|TMEM161B_ENST00000509387.1_Missense_Mutation_p.G48R	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	175						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AAAAAAAATCCAAAGGTGACA	0.318													7	51					0	0	0	0	T	87502921	C	T	87502921	3	4	140	1	0	0	0	0	1	0	0	0	16171	603	21	4	968	4	TMEM161B	5	87502921	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	13467017	87502921	93412339	72	26370											
PPIP5K2	23262	broad.mit.edu	37	chr5	102490547	102490547	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattttataggaagtgctaGatattgcacgacagcttctt	11	16	8	6	1	1	1	0	0	1	1	1	3	1	2	0	1	3	3	0	1	6	9			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:102490547G>C	ENST00000321521.9	+	13	1876	c.1303G>C	c.(1303-1305)Gat>Cat	p.D435H	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.D435H|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.D435H			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	435					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGAAGTGCTAGATATTGCACG	0.279													8	55					0	0	0	0	C	102490547	G	C	102490547	3	2	140	1	0	0	0	0	1	0	0	0	12409	942	33	2	1349	2	PPIP5K2	5	102490547	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	14987626	102490547	78424713	73	26371											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308245	140308245	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagcagaggatgctgacAgtggttctaatgcctggctt	8	12	14	7	0	1	2	0	1	1	1	1	3	1	3	1	4	3	5	1	4	2	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:140308245A>T	ENST00000253807.2	+	1	1768	c.1768A>T	c.(1768-1770)Agt>Tgt	p.S590C	PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S590C|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGCTGACAGTGGTTCTAA	0.517													13	101					0	0	0	0	T	140308245	A	T	140308245	3	4	140	1	0	0	0	0	1	0	0	0	11603	188	7	5	1770	5	PCDHAC1	5	140308245	Missense_Mutation	SNP	A	TCGA-CQ-5333-01A-01D-2394-08	37817698	140308245	40607015	74	26372											
PCDHB15	56121	broad.mit.edu	37	chr5	140626943	140626943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacggcgactcgggccagaaCgcctggctgtcgtaccagct	7	6	14	14	5	0	1	0	0	0	1	2	3	0	1	3	3	3	3	3	3	2	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:140626943C>T	ENST00000231173.3	+	1	1797	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		599	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCCAGAACGCCTGGCTGT	0.726													6	85					0	0	0	0	T	140626943	C	T	140626943	2	4	140	1	0	0	0	0	0	0	0	1	11611	535	19	1		1	PCDHB15	5	140626943	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	318698	140626943	40288317	75	26373											
HK3	3101	broad.mit.edu	37	chr5	176317843	176317843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtccaagcccgtctggtGacaagggaaagagaagctga	12	6	13	10	1	1	3	0	2	1	1	2	5	2	4	3	2	2	1	3	2	4	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:176317843G>A	ENST00000292432.5	-	5	605	c.514C>T	c.(514-516)Cac>Tac	p.H172Y		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	172	Glucose-binding (Potential).|Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGTCTGGTGACAAGGGAAA	0.587													7	69					0	0	0	0	A	176317843	G	A	176317843	3	1	140	1	0	0	0	0	1	0	0	0	7242	1290	45	2	2317	2	HK3	5	176317843	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	35690900	176317843	4597417	76	26374											
FAM193B	54540	broad.mit.edu	37	chr5	176959554	176959554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagctgctatcctcttcctCacccagcccctcatctgcct	6	11	5	19	0	4	1	2	0	2	1	6	1	6	1	6	0	4	2	6	0	1	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:176959554C>T	ENST00000443375.2	-	6	2384	c.826G>A	c.(826-828)Gag>Aag	p.E276K	FAM193B_ENST00000508298.1_5'UTR|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000514747.1_Missense_Mutation_p.E389K			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	414										kidney(1)|large_intestine(3)	4						TCCTCTTCCTCACCCAGCCCC	0.607													4	9					0	0	0	0	T	176959554	C	T	176959554	3	4	140	1	0	0	0	0	1	0	0	0	5568	835	29	2	1563	2	FAM193B	5	176959554	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	641711	176959554	3955706	77	26375											
BTNL8	79908	broad.mit.edu	37	chr5	180374749	180374750	+	Frame_Shift_Ins	INS	-	-	A																															gcctccaggggcccaggcccINSaaaaaagtaatcatccttct																										TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:180374749_180374750insA	ENST00000231229.4	+	4	1145_1146	c.911_912insA	c.(910-912)caafs	p.Q304fs	BTNL8_ENST00000508408.1_Frame_Shift_Ins_p.Q304fs|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000505126.1_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	165	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCCAGGCCCAAAAAAGTAAT	0.48													35	216	---	---	---	---					A	180374750	-	A	180374749	7	5	140	1	0	1	1	0	0	0	0	0	1576	594	21	0	951	0	BTNL8	5	180374749	Frame_Shift_Ins	INS	-	TCGA-CQ-5333-01A-01D-2394-08	3415195	180374749	540511	78	26376											
GMDS	2762	broad.mit.edu	37	chr6	1742748	1742748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatttctcgacaaattcccGgacactatggacctccccag	10	10	7	14	2	1	1	0	1	1	0	4	4	3	3	4	2	0	0	4	2	2	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:1742748G>A	ENST00000380815.4	-	8	1113	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	GMDS_ENST00000530927.1_Missense_Mutation_p.R252W	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	282					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ACAAATTCCCGGACACTATGG	0.453													15	69					0	0	0	0	A	1742748	G	A	1742748	3	1	140	1	0	0	0	0	1	0	0	0	6537	1115	39	1	290	1	GMDS	6	1742748	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08		1742748	169372319	79	26377											
PHACTR1	221692	broad.mit.edu	37	chr6	13206093	13206093	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgccagtgaaactgtcGcctccgctacctccaaagaa	10	9	8	14	2	1	2	0	1	1	1	4	2	3	2	5	0	3	1	5	0	4	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:13206093G>A	ENST00000379350.1	+	7	840	c.711G>A	c.(709-711)tcG>tcA	p.S237S	PHACTR1_ENST00000457702.2_Silent_p.S92S|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Silent_p.S237S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	237						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGAAACTGTCGCCTCCGCTAC	0.572													11	72					0	0	0	0	A	13206093	G	A	13206093	2	1	140	1	0	0	0	0	0	0	0	1	11881	1074	38	1		1	PHACTR1	6	13206093	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	11463345	13206093	157908974	80	26378											
HLA-DQB1	3119	broad.mit.edu	37	chr6	32629142	32629142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctttctgactcctttgacGgatgataaggcccagcccaa	10	10	8	13	1	1	3	0	3	1	0	2	4	2	4	4	2	1	0	4	2	2	3	rs9273626		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:32629142G>A	ENST00000399084.1	-	5	932	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	HLA-DQB1_ENST00000399082.3_Intron|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.R252C|HLA-DQB1_ENST00000399079.3_Intron|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.R252C			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	252			H -> R (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*06:01, allele DQB1*06:02, allele DQB1*06:03, allele DQB1*06:04, allele DQB1*06:09, allele DQB1*06:12 and allele DQB1*06:36; dbSNP:rs1140342).		antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCCTTTGACGGATGATAAGG	0.557									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				4	39					0	0	0	0	A	32629142	G	A	32629142	3	1	140	1	0	0	0	0	1	0	0	0	7256	1116	39	1	39	1	HLA-DQB1	6	32629142	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	19423049	32629142	138485925	81	26379											
TREML1	340205	broad.mit.edu	37	chr6	41121819	41121819	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcagggaggctgccaactAtgccctgacctggggaagga	9	6	14	12	0	1	1	1	1	0	0	1	4	1	4	4	5	3	1	4	5	3	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:41121819A>G	ENST00000373127.4	-	2	101	c.53T>C	c.(52-54)aTa>aCa	p.I18T	TREML1_ENST00000437044.2_Intron|TREML1_ENST00000426005.2_Missense_Mutation_p.I18T	NM_001271807.1	NP_001258736.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	18	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCTGCCAACTATGCCCTGACC	0.582													7	50					0	0	0	0	G	41121819	A	G	41121819	3	3	140	1	0	0	0	0	1	0	0	0	16567	449	16	5	900	5	TREML1	6	41121819	Missense_Mutation	SNP	A	TCGA-CQ-5333-01A-01D-2394-08	8492677	41121819	129993248	82	26380											
RUNX2	860	broad.mit.edu	37	chr6	45405688	45405688	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttttatatctgcaggcaaGagtttcaccttgaccataac	11	13	6	11	0	2	2	1	1	1	1	2	2	2	2	3	1	2	3	3	1	4	6			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:45405688G>C	ENST00000371438.1	+	4	943	c.585G>C	c.(583-585)aaG>aaC	p.K195N	RUNX2_ENST00000371432.3_Missense_Mutation_p.K181N|RUNX2_ENST00000541979.1_Missense_Mutation_p.K263N|RUNX2_ENST00000465038.2_Missense_Mutation_p.K195N|RUNX2_ENST00000371436.6_Missense_Mutation_p.K195N|RUNX2_ENST00000352853.5_Missense_Mutation_p.K263N|RUNX2_ENST00000576263.1_Missense_Mutation_p.K195N|RUNX2_ENST00000359524.5_Missense_Mutation_p.K181N	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	195	Runt.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTGCAGGCAAGAGTTTCACCT	0.388													20	133					0	0	0	0	C	45405688	G	C	45405688	3	2	140	1	0	0	0	0	1	0	0	0	13833	933	33	2	615	2	RUNX2	6	45405688	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	4283869	45405688	125709379	83	26381											
RIMS1	22999	broad.mit.edu	37	chr6	72596767	72596767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggtcctcgcccacccaCggtgcctccccccatgcaag	5	5	9	22	4	0	0	0	0	0	0	3	0	2	0	8	2	2	1	8	2	1	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:72596767C>T	ENST00000264839.7	+	1	41	c.41C>T	c.(40-42)aCg>aTg	p.T14M	RIMS1_ENST00000520567.1_Missense_Mutation_p.T14M|RIMS1_ENST00000518273.1_Missense_Mutation_p.T14M|RIMS1_ENST00000491071.2_Missense_Mutation_p.T14M|RIMS1_ENST00000517960.1_Missense_Mutation_p.T14M|RIMS1_ENST00000348717.5_Missense_Mutation_p.T14M|RIMS1_ENST00000521978.1_Missense_Mutation_p.T14M|RIMS1_ENST00000522291.1_Missense_Mutation_p.T14M			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	14					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)				CGCCCACCCACGGTGCCTCCC	0.657													3	28					0	0	0	0	T	72596767	C	T	72596767	3	4	140	1	0	0	0	0	1	0	0	0	13452	536	19	1	43	1	RIMS1	6	72596767	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	27191079	72596767	98518300	84	26382											
IBTK	25998	broad.mit.edu	37	chr6	82900848	82900848	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaactgtttccatgctatTcattcctgaattgttttcct	9	19	4	9	0	1	1	1	1	0	0	4	1	4	1	3	0	2	3	3	0	4	8			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:82900848T>A	ENST00000306270.7	-	25	4066	c.3517A>T	c.(3517-3519)Aat>Tat	p.N1173Y	IBTK_ENST00000503631.1_Missense_Mutation_p.N972Y|IBTK_ENST00000510291.1_Missense_Mutation_p.N1158Y	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1173					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCCATGCTATTCATTCCTGAA	0.328													4	27					0	0	0	0	A	82900848	T	A	82900848	3	1	140	1	0	0	0	0	1	0	0	0	7529	1783	62	5	564	5	IBTK	6	82900848	Missense_Mutation	SNP	T	TCGA-CQ-5333-01A-01D-2394-08	10304081	82900848	88214219	85	26383											
ASCC3	10973	broad.mit.edu	37	chr6	101100668	101100668	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatcagttgaggaaaaatatCcagttcgctcctcaaaacga	16	9	7	9	2	2	1	2	1	0	0	5	3	4	2	2	1	1	3	2	1	6	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:101100668C>G	ENST00000369162.2	-	18	3265	c.2921G>C	c.(2920-2922)gGa>gCa	p.G974A		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	974					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGAAAAATATCCAGTTCGCTC	0.358													10	50					0	0	0	0	G	101100668	C	G	101100668	3	3	140	1	0	0	0	0	1	0	0	0	1037	855	30	2	3787	2	ASCC3	6	101100668	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	18199820	101100668	70014399	86	26384											
NT5DC1	221294	broad.mit.edu	37	chr6	116565100	116565100	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggactacaaatttacaagAttctcttcaagcaattcaaa	16	12	4	9	0	3	1	2	0	1	1	4	2	3	2	0	1	3	1	0	1	7	6			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:116565100A>T	ENST00000319550.4	+	12	1363	c.1281A>T	c.(1279-1281)agA>agT	p.R427S		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	427							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AATTTACAAGATTCTCTTCAA	0.348													7	43					0	0	0	0	T	116565100	A	T	116565100	3	4	140	1	0	0	0	0	1	0	0	0	10761	330	12	5	1327	5	NT5DC1	6	116565100	Missense_Mutation	SNP	A	TCGA-CQ-5333-01A-01D-2394-08	15464432	116565100	54549967	87	26385											
SLC2A12	154091	broad.mit.edu	37	chr6	134312437	134312437	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaaacaaatgttgtttttCacatagttcctgaaagagaa	17	13	6	5	0	1	2	1	1	0	1	2	3	2	2	1	0	1	3	1	0	6	6			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:134312437C>T	ENST00000275230.5	-	5	1865	c.1710G>A	c.(1708-1710)gtG>gtA	p.V570V		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	570						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGTTGTTTTTCACATAGTTCC	0.368													10	75					0	0	0	0	T	134312437	C	T	134312437	2	4	140	1	0	0	0	0	0	0	0	1	14629	813	29	2		2	SLC2A12	6	134312437	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	17747337	134312437	36802630	88	26386											
PDE7B	27115	broad.mit.edu	37	chr6	136470273	136470273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttgacattttcttgtttGatcgcttgacaaatggtaag	10	18	8	5	1	1	3	0	3	1	0	2	3	1	3	0	1	0	3	0	1	2	8			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:136470273G>A	ENST00000308191.6	+	5	670	c.367G>A	c.(367-369)Gat>Aat	p.D123N	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	123					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	TTTCTTGTTTGATCGCTTGAC	0.333													9	41					0	0	0	0	A	136470273	G	A	136470273	3	1	140	1	0	0	0	0	1	0	0	0	11723	1290	45	2	385	2	PDE7B	6	136470273	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	2157836	136470273	34644794	89	26387											
BCLAF1	9774	broad.mit.edu	37	chr6	136597547	136597547	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgatcttcccattctccCtctgccctccctttctctga	3	16	3	19	0	4	2	0	2	4	0	9	2	7	2	5	0	1	0	5	0	0	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:136597547C>T	ENST00000531224.1	-	5	1368	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E	BCLAF1_ENST00000353331.4_Silent_p.E370E|BCLAF1_ENST00000527759.1_Silent_p.E370E|BCLAF1_ENST00000527536.1_Silent_p.E372E|BCLAF1_ENST00000392348.2_Silent_p.E370E|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	372					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCCATTCTCCCTCTGCCCTCC	0.433													29	419					0	0	0	0	T	136597547	C	T	136597547	2	4	140	1	0	0	0	0	0	0	0	1	1387	680	24	4		4	BCLAF1	6	136597547	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	127274	136597547	34517520	90	26388											
SYNE1	23345	broad.mit.edu	37	chr6	152583231	152583231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtactaaattcttgaTgtaggctttcccatttcatt	8	18	7	8	0	2	1	1	1	1	0	3	1	3	1	1	2	1	4	1	2	4	9			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:152583231T>C	ENST00000367255.5	-	101	19509	c.18908A>G	c.(18907-18909)cAt>cGt	p.H6303R	SYNE1_ENST00000356820.4_Missense_Mutation_p.H827R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H6303R|SYNE1_ENST00000341594.5_Missense_Mutation_p.H5915R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H6232R|SYNE1_ENST00000448038.1_Missense_Mutation_p.H6232R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6303					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAATTCTTGATGTAGGCTTTC	0.373										HNSCC(10;0.0054)			7	48					0	0	0	0	C	152583231	T	C	152583231	3	2	140	1	0	0	0	0	1	0	0	0	15536	1464	51	5	7742	5	SYNE1	6	152583231	Missense_Mutation	SNP	T	TCGA-CQ-5333-01A-01D-2394-08	15985684	152583231	18531836	91	26389											
OPRM1	4988	broad.mit.edu	37	chr6	154412438	154412438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaggttacacaaacagctGcctcaacccagtcctttatg	11	11	6	13	0	2	0	1	0	1	0	3	0	3	0	3	1	5	2	3	1	5	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:154412438G>A	ENST00000414028.2	+	3	1045	c.995G>A	c.(994-996)tGc>tAc	p.C332Y	OPRM1_ENST00000520708.1_Missense_Mutation_p.C232Y|OPRM1_ENST00000330432.7_Missense_Mutation_p.C332Y|OPRM1_ENST00000229768.5_Missense_Mutation_p.C332Y|OPRM1_ENST00000337049.4_Missense_Mutation_p.C332Y|OPRM1_ENST00000522555.1_Missense_Mutation_p.C232Y|OPRM1_ENST00000522236.1_Missense_Mutation_p.C232Y|OPRM1_ENST00000518759.1_Missense_Mutation_p.C251Y|OPRM1_ENST00000428397.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000419506.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000360422.4_Missense_Mutation_p.C332Y|OPRM1_ENST00000452687.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000434900.2_Missense_Mutation_p.C425Y|OPRM1_ENST00000524163.1_Missense_Mutation_p.C332Y|OPRM1_ENST00000435918.2_Missense_Mutation_p.C332Y	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	332					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ACAAACAGCTGCCTCAACCCA	0.428													20	97					0	0	0	0	A	154412438	G	A	154412438	3	1	140	1	0	0	0	0	1	0	0	0	10958	1319	46	4	1339	4	OPRM1	6	154412438	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	1829207	154412438	16702629	92	26390											
SDK1	221935	broad.mit.edu	37	chr7	4116726	4116726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacaagatccaaggcctctCatctctcaccacctacacca	12	8	4	17	0	3	1	2	0	2	1	6	1	4	1	5	1	2	1	5	1	4	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:4116726C>T	ENST00000404826.2	+	21	3246	c.3107C>T	c.(3106-3108)tCa>tTa	p.S1036L	SDK1_ENST00000389531.3_Missense_Mutation_p.S1036L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1036	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAAGGCCTCTCATCTCTCACC	0.577													7	49					0	0	0	0	T	4116726	C	T	4116726	3	4	140	1	0	0	0	0	1	0	0	0	14055	838	29	2	3189	2	SDK1	7	4116726	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08		4116726	155021937	93	26391											
ACTB	60	broad.mit.edu	37	chr7	5567464	5567464	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctgctggaaggtggacagcGaggccaggatggagccgccg	8	5	18	10	3	1	0	0	0	1	0	1	5	1	4	3	6	3	1	3	6	1	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:5567464G>C	ENST00000331789.5	-	6	1234	c.1043C>G	c.(1042-1044)tCg>tGg	p.S348W	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	348					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGTGGACAGCGAGGCCAGGAT	0.587													19	132					0	0	0	0	C	5567464	G	C	5567464	3	2	140	1	0	0	0	0	1	0	0	0	193	1059	37	3	88	3	ACTB	7	5567464	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	1450738	5567464	153571199	94	26392											
TMED4	222068	broad.mit.edu	37	chr7	44619144	44619144	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccagatgccagtgaggatGaggatgacagtctgagcaat	12	8	14	7	0	1	5	0	4	1	1	1	7	1	7	2	2	3	1	2	2	1	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:44619144G>A	ENST00000457408.2	-	5	670	c.618C>T	c.(616-618)ctC>ctT	p.L206L	TMED4_ENST00000289577.5_Silent_p.L157L	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	206					positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CAGTGAGGATGAGGATGACAG	0.532													8	68					0	0	0	0	A	44619144	G	A	44619144	2	1	140	1	0	0	0	0	0	0	0	1	16100	1277	45	2		2	TMED4	7	44619144	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	39051680	44619144	114519519	95	26393											
PTPN12	5782	broad.mit.edu	37	chr7	77256106	77256106	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccatcttgacaccttctccCccttcagcttttccaacagt	7	13	3	18	0	3	1	1	1	2	0	5	1	4	1	5	0	2	1	5	0	1	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:77256106C>G	ENST00000248594.6	+	13	1382	c.1110C>G	c.(1108-1110)ccC>ccG	p.P370P	PTPN12_ENST00000435495.2_Silent_p.P240P|PTPN12_ENST00000415482.2_Silent_p.P251P	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	370	Interaction with TGFB1I1 (By similarity).					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CACCTTCTCCCCCTTCAGCTT	0.458													8	52					0	0	0	0	G	77256106	C	G	77256106	2	3	140	1	0	0	0	0	0	0	0	1	12861	610	22	4		4	PTPN12	7	77256106	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	32636962	77256106	81882557	96	26394											
PCLO	27445	broad.mit.edu	37	chr7	82584850	82584851	+	Frame_Shift_Ins	INS	-	-	T																															tcatctttgtctttctttgaINSttttttactagaactctttc																										TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:82584850_82584851insT	ENST00000423517.2	-	5	5755_5756	c.5418_5419insA	c.(5416-5421)aacaaafs	p.NK1806fs	PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NK1806fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1737					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTTCTTTGATTTTTTACTAG	0.396													18	116	---	---	---	---					T	82584851	-	T	82584850	7	5	140	1	0	1	1	0	0	0	0	0	11654	333	12	0	10110	0	PCLO	7	82584850	Frame_Shift_Ins	INS	-	TCGA-CQ-5333-01A-01D-2394-08	5328744	82584850	76553813	97	26395											
ARPC1B	10095	broad.mit.edu	37	chr7	98988876	98988876	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaacagcctggtggcagcGgtgaggaatagggaggggag	11	4	20	6	1	0	1	0	1	0	0	0	5	0	4	1	7	3	1	1	7	3	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:98988876G>A	ENST00000451682.1	+	9	1092	c.783_splice	c.e9+1	p.A261_splice	ARPC1B_ENST00000252725.5_Splice_Site_p.A261_splice			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	261					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTGGCAGCGGTGAGGAATA	0.612													6	17					0	0	0	0	A	98988876	G	A	98988876	5	1	140	1	0	0	0	0	0	0	1	0	974	1130	39	1	805	1	ARPC1B	7	98988876	Splice_Site	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	16404026	98988876	60149787	98	26396											
PCOLCE	5118	broad.mit.edu	37	chr7	100204123	100204123	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggcttctcagcctcctaCaagaccctgccgcggggcac	7	7	11	16	2	1	1	1	0	1	1	3	2	2	1	4	3	3	2	4	3	2	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:100204123C>A	ENST00000223061.5	+	6	1090	c.810C>A	c.(808-810)taC>taA	p.Y270*		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	270	CUB 2.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAGCCTCCTACAAGACCCTGC	0.622													7	50					0.0293803	0.0295858	1	0	A	100204123	C	A	100204123	4	1	140	1	0	0	0	0	0	1	0	0	11665	489	17	4	832	4	PCOLCE	7	100204123	Nonsense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	1215247	100204123	58934540	99	26397											
FEZF1	389549	broad.mit.edu	37	chr7	121943740	121943740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggcttggcattaggagagCctcggctgaaatccgaggtt	8	10	15	8	2	0	2	0	1	0	1	2	4	1	2	2	5	1	4	2	5	2	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:121943740C>T	ENST00000442488.2	-	1	819	c.752G>A	c.(751-753)gGc>gAc	p.G251D	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.G201D|FEZF1_ENST00000331178.4_Missense_Mutation_p.G251D	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	251					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ATTAGGAGAGCCTCGGCTGAA	0.493													11	100					0	0	0	0	T	121943740	C	T	121943740	3	4	140	1	0	0	0	0	1	0	0	0	5870	739	26	4	691	4	FEZF1	7	121943740	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	21739617	121943740	37194923	100	26398											
SLC13A4	26266	broad.mit.edu	37	chr7	135378967	135378967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcttcttcttcttgctcaGagagcaggtctctttaaaac	8	15	8	10	0	6	1	1	0	5	1	7	2	6	1	0	2	3	2	0	2	2	6			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:135378967G>A	ENST00000354042.4	-	10	1725	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	346						integral to plasma membrane	sodium:sulfate symporter activity	p.L346L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TTCTTGCTCAGAGAGCAGGTC	0.388													8	50					0	0	0	0	A	135378967	G	A	135378967	2	1	140	1	0	0	0	0	0	0	0	1	14482	933	33	2		2	SLC13A4	7	135378967	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	13435227	135378967	23759696	101	26399											
HIPK2	28996	broad.mit.edu	37	chr7	139258011	139258011	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcggcagcggctgcagccaGatgcgggtgcacagtgccgt	7	5	17	12	4	0	1	0	0	0	1	0	1	0	1	2	3	7	4	2	3	0	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:139258011G>C	ENST00000406875.3	-	15	3353	c.3259C>G	c.(3259-3261)Ctg>Gtg	p.L1087V	HIPK2_ENST00000428878.2_Missense_Mutation_p.L1060V	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1087	Autoinhibitory domain (AID).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GCTGCAGCCAGATGCGGGTGC	0.706													9	56					0	0	0	0	C	139258011	G	C	139258011	3	2	140	1	0	0	0	0	1	0	0	0	7167	933	33	2	341	2	HIPK2	7	139258011	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	3879044	139258011	19880652	102	26400											
ZNF212	7988	broad.mit.edu	37	chr7	148950826	148950826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtcctggggactctactCtagaggagcctgttggtagt	7	11	14	9	0	2	1	0	0	2	1	3	3	3	3	2	5	2	2	2	5	3	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:148950826C>G	ENST00000335870.2	+	5	936	c.808C>G	c.(808-810)Cta>Gta	p.L270V		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GGACTCTACTCTAGAGGAGCC	0.557													16	80					0	0	0	0	G	148950826	C	G	148950826	3	3	140	1	0	0	0	0	1	0	0	0	17863	912	32	2	826	2	ZNF212	7	148950826	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	9692815	148950826	10187837	103	26401											
KCNH2	3757	broad.mit.edu	37	chr7	150648846	150648846	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaacagcacggccgcgccGtactctgagtagcgatccag	11	5	12	13	5	1	2	0	1	1	1	2	3	2	2	3	1	4	3	3	1	4	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:150648846G>A	ENST00000392968.2	-	5	2467	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y	KCNH2_ENST00000330883.4_Silent_p.Y205Y|KCNH2_ENST00000430723.3_Silent_p.Y545Y|KCNH2_ENST00000262186.5_Silent_p.Y545Y			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	545					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CGGCCGCGCCGTACTCTGAGT	0.647													6	33					0	0	0	0	A	150648846	G	A	150648846	2	1	140	1	0	0	0	0	0	0	0	1	8085	1140	40	1		1	KCNH2	7	150648846	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	1698020	150648846	8489817	104	26402											
ANGPT2	285	broad.mit.edu	37	chr8	6372251	6372251	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgctgccatcctcacgtcGctgaataattgtccacccgc	9	9	7	16	4	1	1	1	1	0	0	4	1	3	1	4	0	2	2	4	0	3	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:6372251G>A	ENST00000325203.5	-	6	1453	c.979C>T	c.(979-981)Cga>Tga	p.R327*	ANGPT2_ENST00000523120.1_Nonsense_Mutation_p.R326*|ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.R275*|ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.R326*|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	327	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TCCTCACGTCGCTGAATAATT	0.478													38	192					0	0	0	0	A	6372251	G	A	6372251	4	1	140	1	0	0	0	0	0	1	0	0	611	1095	38	1	527	1	ANGPT2	8	6372251	Nonsense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08		6372251	139991771	105	26403											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19277993	19277993	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccgagaaaattctccattCagctggatgaaggtaaagtt	13	10	9	9	1	2	2	1	1	1	1	3	4	2	3	3	2	1	3	3	2	5	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:19277993C>T	ENST00000454498.2	-	7	2003	c.990G>A	c.(988-990)ctG>ctA	p.L330L	CSGALNACT1_ENST00000522854.1_Silent_p.L330L|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000544602.1_Silent_p.L330L|CSGALNACT1_ENST00000311540.4_Silent_p.L330L|CSGALNACT1_ENST00000332246.6_Silent_p.L330L	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	330					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		ATTCTCCATTCAGCTGGATGA	0.483													28	144					0	0	0	0	T	19277993	C	T	19277993	2	4	140	1	0	0	0	0	0	0	0	1	3970	813	29	2		2	CSGALNACT1	8	19277993	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	12905742	19277993	127086029	106	26404											
LPL	4023	broad.mit.edu	37	chr8	19811639	19811639	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcccttttaaggcctcgatCcagctggacctaactttgag	8	13	8	12	1	0	1	0	1	0	0	3	3	2	2	4	2	2	1	4	2	2	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:19811639C>G	ENST00000311322.8	+	5	1020	c.550C>G	c.(550-552)Cca>Gca	p.P184A		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	184			P -> R (in LPL deficiency; Nijmegen; loss of activity).		fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	AGGCCTCGATCCAGCTGGACC	0.458													10	72					0	0	0	0	G	19811639	C	G	19811639	3	3	140	1	0	0	0	0	1	0	0	0	8985	855	30	2	568	2	LPL	8	19811639	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	533646	19811639	126552383	107	26405											
PLAG1	5324	broad.mit.edu	37	chr8	57079803	57079803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcatgagatttaaggtGctccagaagcactcccgtgc	9	9	11	12	1	0	2	0	1	0	2	2	3	2	2	3	1	4	3	3	1	2	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:57079803G>T	ENST00000316981.3	-	5	981	c.502C>A	c.(502-504)Cac>Aac	p.H168N	PLAG1_ENST00000423799.2_Missense_Mutation_p.H86N|PLAG1_ENST00000429357.2_Missense_Mutation_p.H168N	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	168	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GATTTAAGGTGCTCCAGAAGC	0.488			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								6	30					3.59834e-05	3.82406e-05	1	0	T	57079803	G	T	57079803	3	4	140	1	0	0	0	0	1	0	0	0	12090	1319	46	4	1004	4	PLAG1	8	57079803	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	37268164	57079803	89284219	108	26406											
PENK	5179	broad.mit.edu	37	chr8	57354189	57354189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctgaggaattggccagcGagtcgtcctcctctgcatcc	6	10	12	13	2	2	1	0	1	2	0	6	3	5	2	4	3	2	1	4	3	1	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:57354189G>A	ENST00000314922.3	-	2	522	c.446C>T	c.(445-447)tCg>tTg	p.S149L	PENK_ENST00000451791.2_Missense_Mutation_p.S149L|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	149					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			ATTGGCCAGCGAGTCGTCCTC	0.537													21	99					0	0	0	0	A	57354189	G	A	57354189	3	1	140	1	0	0	0	0	1	0	0	0	11798	1059	37	1	361	1	PENK	8	57354189	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	274386	57354189	89009833	109	26407											
ASPH	444	broad.mit.edu	37	chr8	62496531	62496531	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagtttttctgcagcatcaAgttcagctttaatagtctta	10	16	8	7	0	4	0	2	0	2	0	4	1	4	1	0	1	3	5	0	1	4	7			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:62496531A>T	ENST00000541428.1	-	15	1107	c.947T>A	c.(946-948)cTt>cAt	p.L316H	ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000379454.4_Missense_Mutation_p.L345H	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	345					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGCAGCATCAAGTTCAGCTTT	0.269													9	35					0	0	0	0	T	62496531	A	T	62496531	3	4	140	1	0	0	0	0	1	0	0	0	1057	72	3	5	1286	5	ASPH	8	62496531	Missense_Mutation	SNP	A	TCGA-CQ-5333-01A-01D-2394-08	5142342	62496531	83867491	110	26408											
CSMD3	114788	broad.mit.edu	37	chr8	113562942	113562942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agatttgctaatataaaaatCcgtgtcaaactggatggtta	15	13	8	5	1	1	1	1	0	0	1	2	2	2	2	1	2	2	2	1	2	7	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:113562942C>T	ENST00000297405.5	-	27	4766	c.4522G>A	c.(4522-4524)Gat>Aat	p.D1508N	CSMD3_ENST00000455883.2_Missense_Mutation_p.D1404N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1468N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1508N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1508	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATAAAAATCCGTGTCAAAC	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	55					0	0	0	0	T	113562942	C	T	113562942	3	4	140	1	0	0	0	0	1	0	0	0	3978	855	30	2	6781	2	CSMD3	8	113562942	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	51066411	113562942	32801080	111	26409											
FOXD4	2298	broad.mit.edu	37	chr9	117664	117664	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcagcgagaggttgtggcgGatgctgttctgccaggcggg	5	10	18	8	3	2	1	1	0	1	1	2	3	2	2	1	5	3	3	1	5	0	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:117664G>A	ENST00000382500.2	-	1	753	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	152			I -> V (in dbSNP:rs7031810).		axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGTTGTGGCGGATGCTGTTCT	0.657													23	292					0	0	0	0	A	117664	G	A	117664	2	1	140	1	0	0	0	0	0	0	0	1	6044	1164	41	2		2	FOXD4	9	117664	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08		117664	141095767	112	26410											
STOML2	30968	broad.mit.edu	37	chr9	35101723	35101724	+	Frame_Shift_Del	DEL	AG	AG	-																															ttacccggaagactttgtccAgagagagtttgccgagctct																										TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:35101723_35101724delAG	ENST00000356493.5	-	5	489_490	c.427_428delCT	c.(427-429)gfs	p.L143fs	STOML2_ENST00000452248.2_Frame_Shift_Del_p.L143fs	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	143						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GACTTTGTCCAGAGAGAGTTTG	0.505													39	206	---	---	---	---					-	35101724	AG	-	35101723	7	5	140	1	0	1	0	1	0	0	0	0	15404	188	7	0	666	0	STOML2	9	35101723	Frame_Shift_Del	DEL	AG	TCGA-CQ-5333-01A-01D-2394-08	34984059	35101723	106111708	113	26411											
GBA2	57704	broad.mit.edu	37	chr9	35737723	35737723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggatacagatggtggagaGatgggaaaaggagtgcatta	15	7	16	3	0	0	2	0	0	0	2	0	7	0	6	0	5	2	1	0	5	4	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:35737723G>C	ENST00000378088.1	-	2	812	c.430C>G	c.(430-432)Ctc>Gtc	p.L144V	GBA2_ENST00000378103.3_Intron|GBA2_ENST00000378094.4_Intron|GBA2_ENST00000545786.1_Intron			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	0					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGTGGAGAGATGGGAAAAG	0.493													7	55					0	0	0	0	C	35737723	G	C	35737723	3	2	140	1	0	0	0	0	1	0	0	0	6316	957	33	2		2	GBA2	9	35737723	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	636000	35737723	105475708	114	26412			1	36		3	3	442	G		5.626069e-06
GBA2	57704	broad.mit.edu	37	chr9	35738153	35738153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atagttgtaatagcggcctgGagtcgaggaagagaaaaata	16	8	13	4	2	0	1	0	0	0	1	1	5	0	3	1	3	1	2	1	3	7	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:35738153G>A	ENST00000378088.1	-	1	479	c.97C>T	c.(97-99)Cca>Tca	p.P33S	GBA2_ENST00000378103.3_Intron|GBA2_ENST00000378094.4_Intron|GBA2_ENST00000545786.1_Intron|GBA2_ENST00000467252.1_Intron			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	255					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGCGGCCTGGAGTCGAGGAA	0.532													7	34					0	0	0	0	A	35738153	G	A	35738153	3	1	140	1	0	0	0	0	1	0	0	0	6316	1189	41	2		2	GBA2	9	35738153	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	430	35738153	105475278	115	26413			1	36		3	3	442	G		5.626069e-06
GBA2	57704	broad.mit.edu	37	chr9	35738164	35738164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcggcctggagtcgaggaaGagaaaaataaggctcctggt	13	6	15	7	2	0	1	0	0	0	1	2	5	1	3	2	5	1	1	2	5	4	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:35738164G>A	ENST00000378088.1	-	1	468	c.86C>T	c.(85-87)tCt>tTt	p.S29F	GBA2_ENST00000378103.3_Intron|GBA2_ENST00000378094.4_Intron|GBA2_ENST00000545786.1_Intron|GBA2_ENST00000467252.1_Intron			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	0					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTCGAGGAAGAGAAAAATAA	0.527													9	46					0	0	0	0	A	35738164	G	A	35738164	3	1	140	1	0	0	0	0	1	0	0	0	6316	957	33	2		2	GBA2	9	35738164	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	11	35738164	105475267	116	26414			1	36		3	3	442	G		5.626069e-06
SMC2	10592	broad.mit.edu	37	chr9	106864294	106864294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagagaaatagaacatttGagtcgtttatatattgctta	15	15	8	3	1	0	4	0	2	0	2	1	5	0	4	0	0	2	2	0	0	7	8			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:106864294G>T	ENST00000286398.7	+	8	978	c.690G>T	c.(688-690)ttG>ttT	p.L230F	SMC2_ENST00000303219.8_Missense_Mutation_p.L230F|SMC2_ENST00000374787.3_Missense_Mutation_p.L230F|SMC2_ENST00000374793.3_Missense_Mutation_p.L230F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	230					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAGAACATTTGAGTCGTTTAT	0.313													10	73					3.86212e-05	4.0893e-05	1	0	T	106864294	G	T	106864294	3	4	140	1	0	0	0	0	1	0	0	0	14871	1281	45	2	716	2	SMC2	9	106864294	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	71126130	106864294	34349137	117	26415											
SVEP1	79987	broad.mit.edu	37	chr9	113213614	113213614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgatagccagccacaccatCaacacagattcctttattta	14	10	4	13	1	1	1	1	0	0	1	2	2	2	1	4	0	3	0	4	0	4	6			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:113213614C>T	ENST00000401783.2	-	23	4192	c.3856G>A	c.(3856-3858)Gat>Aat	p.D1286N	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1286N|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1263N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1286	EGF-like 3; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCACACCATCAACACAGATT	0.393													4	49					0	0	0	0	T	113213614	C	T	113213614	3	4	140	1	0	0	0	0	1	0	0	0	15510	826	29	2	6963	2	SVEP1	9	113213614	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	6349320	113213614	27999817	118	26416											
LRRC8A	56262	broad.mit.edu	37	chr9	131670253	131670253	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacatgcggcagaccatcatCaaggtgatcaagttcatcct	12	10	8	11	1	4	2	4	1	0	1	5	2	5	2	2	2	2	2	2	2	3	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:131670253C>T	ENST00000259324.5	+	3	1333	c.810C>T	c.(808-810)atC>atT	p.I270I	LRRC8A_ENST00000372600.4_Silent_p.I270I|LRRC8A_ENST00000372599.3_Silent_p.I270I	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	270					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGACCATCATCAAGGTGATCA	0.542													22	110					0	0	0	0	T	131670253	C	T	131670253	2	4	140	1	0	0	0	0	0	0	0	1	9085	816	29	2		2	LRRC8A	9	131670253	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	18456639	131670253	9543178	119	26417											
CRAT	1384	broad.mit.edu	37	chr9	131860841	131860841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcttggccttctcgatgtCgctcttgatctcgggggtga	3	14	13	11	3	3	2	0	2	3	0	6	3	3	2	1	3	1	2	1	3	0	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:131860841C>T	ENST00000318080.2	-	9	1468	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	392					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTCTCGATGTCGCTCTTGATC	0.602													30	135					0	0	0	0	T	131860841	C	T	131860841	3	4	140	1	0	0	0	0	1	0	0	0	3877	884	31	1	730	1	CRAT	9	131860841	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	190588	131860841	9352590	120	26418											
NOTCH1	4851	broad.mit.edu	37	chr9	139412235	139412235	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcactggaactccccaatCtggtccaggcaggtggcgtc	8	8	12	13	1	1	0	0	0	1	0	4	1	3	1	3	5	2	2	3	5	2	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:139412235C>T	ENST00000277541.6	-	8	1485	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	470	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACTCCCCAATCTGGTCCAGGC	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			5	66					0	0	0	0	T	139412235	C	T	139412235	2	4	140	1	0	0	0	0	0	0	0	1	10617	912	32	2		2	NOTCH1	9	139412235	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	7551394	139412235	1801196	121	26419											
NOTCH1	4851	broad.mit.edu	37	chr9	139412278	139412278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcacgggttcgagacgCactcgttgacgtcgatctcg	6	10	13	12	7	2	2	0	1	2	1	6	4	2	2	0	2	0	4	0	2	0	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:139412278C>T	ENST00000277541.6	-	8	1442	c.1367G>A	c.(1366-1368)tGc>tAc	p.C456Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	456	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTCGAGACGCACTCGTTGAC	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			9	58					0	0	0	0	T	139412278	C	T	139412278	3	4	140	1	0	0	0	0	1	0	0	0	10617	710	25	4	6408	4	NOTCH1	9	139412278	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	43	139412278	1801153	122	26420											
MKX	283078	broad.mit.edu	37	chr10	27964480	27964480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattggatccgttttccagaGtgtctgtaaagaaaagcaaa	14	12	9	6	1	1	2	0	0	1	2	3	3	3	3	2	1	1	3	2	1	6	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:27964480G>A	ENST00000375790.5	-	6	1274	c.842C>T	c.(841-843)aCt>aTt	p.T281I	MKX_ENST00000419761.1_Missense_Mutation_p.T281I			Q8IYA7	MKX_HUMAN	mohawk homeobox	281					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GTTTTCCAGAGTGTCTGTAAA	0.378													3	35					0	0	0	0	A	27964480	G	A	27964480	3	1	140	1	0	0	0	0	1	0	0	0	9679	1029	36	4	224	4	MKX	10	27964480	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08		27964480	107570267	123	26421											
WNT8B	7479	broad.mit.edu	37	chr10	102239703	102239703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgcaagtatcagtttGcctgggaccgctggaactgc	11	9	12	9	1	1	1	1	0	0	1	1	3	1	3	2	2	4	4	2	2	5	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:102239703G>T	ENST00000343737.5	+	3	303	c.175G>T	c.(175-177)Gcc>Tcc	p.A59S		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	59					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GTATCAGTTTGCCTGGGACCG	0.547													7	50					5.18039e-06	5.65134e-06	1	0	T	102239703	G	T	102239703	3	4	140	1	0	0	0	0	1	0	0	0	17493	1319	46	4	185	4	WNT8B	10	102239703	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	74275223	102239703	33295044	124	26422											
SEMA4G	57715	broad.mit.edu	37	chr10	102739712	102739712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttcccggcgctggggtcGctatgagggtggggtgcctg	2	10	20	9	3	0	1	0	1	0	0	2	1	1	1	2	7	1	3	2	7	1	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:102739712G>A	ENST00000210633.3	+	9	1169	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	SEMA4G_ENST00000517724.1_Missense_Mutation_p.R364H|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.R364H			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	364	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CGCTGGGGTCGCTATGAGGGT	0.637													20	147					0	0	0	0	A	102739712	G	A	102739712	3	1	140	1	0	0	0	0	1	0	0	0	14123	1087	38	1	1125	1	SEMA4G	10	102739712	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	500009	102739712	32795035	125	26423											
TAF5	6877	broad.mit.edu	37	chr10	105133311	105133311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacatgtacttggagctagtCtacaatcaacatgagaatga	15	10	8	8	0	2	2	1	2	1	1	2	4	2	3	0	1	4	2	0	1	6	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:105133311C>T	ENST00000369839.3	+	2	779	c.756C>T	c.(754-756)gtC>gtT	p.V252V	TAF5_ENST00000351396.4_Silent_p.V252V	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	252					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGGAGCTAGTCTACAATCAAC	0.393													7	51					0	0	0	0	T	105133311	C	T	105133311	2	4	140	1	0	0	0	0	0	0	0	1	15619	900	32	2		2	TAF5	10	105133311	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	2393599	105133311	30401436	126	26424											
COL17A1	1308	broad.mit.edu	37	chr10	105799374	105799374	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagcccttacctgaggttGagaaacctgggaggccttgc	8	10	12	11	0	1	2	1	2	0	1	1	4	1	3	4	3	4	1	4	3	2	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:105799374G>C	ENST00000353479.5	-	42	3103	c.2813C>G	c.(2812-2814)tCa>tGa	p.S938*	COL17A1_ENST00000369733.3_Intron	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	938	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACCTGAGGTTGAGAAACCTGG	0.592													17	50					0	0	0	0	C	105799374	G	C	105799374	4	2	140	1	0	0	0	0	0	1	0	0	3704	1294	45	2	1740	2	COL17A1	10	105799374	Nonsense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	666063	105799374	29735373	127	26425											
SORCS1	114815	broad.mit.edu	37	chr10	108923961	108923961	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgatccgctccgctccgtctCctccggccggagcgtgcagc	3	8	12	18	6	1	1	0	1	1	0	6	2	5	2	6	2	3	3	6	2	0	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:108923961C>T	ENST00000263054.6	-	1	331	c.324G>A	c.(322-324)agG>agA	p.R108R	SORCS1_ENST00000344440.6_Silent_p.R108R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	108						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CGCTCCGTCTCCTCCGGCCGG	0.706													8	31					0	0	0	0	T	108923961	C	T	108923961	2	4	140	1	0	0	0	0	0	0	0	1	15018	854	30	2		2	SORCS1	10	108923961	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	3124587	108923961	26610786	128	26426											
ACSL5	51703	broad.mit.edu	37	chr10	114177678	114177678	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acttcagtcatgacattcttCcgggcagcaatgggatgtca	10	11	10	10	1	4	1	3	1	1	0	5	2	5	2	1	2	1	2	1	2	1	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:114177678C>T	ENST00000393081.1	+	14	1600	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	ACSL5_ENST00000369410.3_Silent_p.F213F|ACSL5_ENST00000356116.1_Silent_p.F487F|ACSL5_ENST00000354655.4_Silent_p.F431F|ACSL5_ENST00000433418.1_Silent_p.F431F|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000354273.4_Silent_p.F431F	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	431					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TGACATTCTTCCGGGCAGCAA	0.453													9	63					0	0	0	0	T	114177678	C	T	114177678	2	4	140	1	0	0	0	0	0	0	0	1	180	854	30	2		2	ACSL5	10	114177678	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	5253717	114177678	21357069	129	26427											
ATRNL1	26033	broad.mit.edu	37	chr10	116881500	116881500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattaagattcaatcattttGctacagaatgtagctgggat	13	14	9	5	0	2	2	2	0	0	2	2	4	2	3	0	1	3	3	0	1	5	6			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:116881500G>T	ENST00000355044.3	+	3	541	c.415G>T	c.(415-417)Gct>Tct	p.A139S	ATRNL1_ENST00000527407.1_Missense_Mutation_p.A139S|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	139	CUB.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAATCATTTTGCTACAGAATG	0.274													23	103					1.66031e-10	1.87517e-10	1	0	T	116881500	G	T	116881500	3	4	140	1	0	0	0	0	1	0	0	0	1211	1319	46	4	425	4	ATRNL1	10	116881500	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	2703822	116881500	18653247	130	26428											
PWWP2B	170394	broad.mit.edu	37	chr10	134219519	134219519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggttttccttggtggccGgcgcgtgttcttgacatcag	4	14	13	10	3	2	1	1	1	1	0	3	1	3	1	2	4	0	2	2	4	0	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:134219519G>A	ENST00000305233.5	+	2	1574	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	505	PWWP.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CTTGGTGGCCGGCGCGTGTTC	0.597													12	98					0	0	0	0	A	134219519	G	A	134219519	2	1	140	1	0	0	0	0	0	0	0	1	12928	1103	39	1		1	PWWP2B	10	134219519	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	17338019	134219519	1315228	131	26429											
HRAS	3265	broad.mit.edu	37	chr11	534285	534285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcgcactcttgcccacaCcgccggcgcccaccaccacc	7	4	7	23	4	2	0	1	0	1	0	2	0	2	0	7	1	2	1	7	1	0	1	rs104894226		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:534285C>A	ENST00000417302.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			7	46					5.18039e-06	5.65134e-06	1	0	A	534285	C	A	534285	3	1	140	1	0	0	0	0	1	0	0	0	7398	507	18	4	614	4	HRAS	11	534285	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08		534285	134472231	132	26430											
MUC6	4588	broad.mit.edu	37	chr11	1016697	1016697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgttgagtggatggaggcaGaagtggccatctgtgtgtgg	7	10	19	5	1	1	2	0	1	1	1	1	4	1	4	1	5	0	2	1	5	1	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:1016697G>A	ENST00000421673.2	-	31	6154	c.6104C>T	c.(6103-6105)tCt>tTt	p.S2035F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2035	Thr-rich.				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)		GATGGAGGCAGAAGTGGCCAT	0.567													39	353					0	0	0	0	A	1016697	G	A	1016697	3	1	140	1	0	0	0	0	1	0	0	0	10050	942	33	2	1227	2	MUC6	11	1016697	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	482412	1016697	133989819	133	26431											
USH1C	10083	broad.mit.edu	37	chr11	17537815	17537815	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggttgggaatttgccatcGtaacgataaaaccatccaaa	15	10	8	8	2	0	0	0	0	0	0	2	2	1	1	3	2	3	2	3	2	5	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:17537815G>A	ENST00000005226.7	-	15	1232	c.1233C>T	c.(1231-1233)taC>taT	p.Y411Y	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ATTTGCCATCGTAACGATAAA	0.488													4	15					0	0	0	0	A	17537815	G	A	17537815	2	1	140	1	0	0	0	0	0	0	0	1	17130	1140	40	1		1	USH1C	11	17537815	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	16521118	17537815	117468701	134	26432											
TSPAN18	90139	broad.mit.edu	37	chr11	44950696	44950696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcagcttttcgccatgatCtttgccatgtgcctcttccg	4	16	8	13	2	2	1	0	1	2	0	4	1	3	1	4	0	4	2	4	0	0	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:44950696C>G	ENST00000340160.3	+	9	953	c.714C>G	c.(712-714)atC>atG	p.I238M	TSPAN18_ENST00000520358.2_Missense_Mutation_p.I238M	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	238						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TCGCCATGATCTTTGCCATGT	0.592													20	90					0	0	0	0	G	44950696	C	G	44950696	3	3	140	1	0	0	0	0	1	0	0	0	16737	903	32	2	740	2	TSPAN18	11	44950696	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	27412881	44950696	90055820	135	26433											
AHNAK	79026	broad.mit.edu	37	chr11	62294685	62294685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatctacatccacctctcCttttgccttggggctcttca	7	14	5	15	0	4	0	1	0	3	0	6	0	5	0	4	2	3	1	4	2	2	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:62294685C>G	ENST00000378024.4	-	5	7478	c.7204G>C	c.(7204-7206)Gga>Cga	p.G2402R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2402					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACCTCTCCTTTTGCCTTG	0.483													22	101					0	0	0	0	G	62294685	C	G	62294685	3	3	140	1	0	0	0	0	1	0	0	0	414	690	24	4	10588	4	AHNAK	11	62294685	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	17343989	62294685	72711831	136	26434											
SSH3	54961	broad.mit.edu	37	chr11	67075902	67075902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctcagagtggaacgcagCaaacctggaggagctgcaga	12	4	16	9	1	1	2	1	0	0	2	1	5	1	5	1	4	5	5	1	4	2	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:67075902C>A	ENST00000308127.4	+	10	1212	c.1034C>A	c.(1033-1035)gCa>gAa	p.A345E	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Missense_Mutation_p.A345E|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	345	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGGAACGCAGCAAACCTGGAG	0.647													10	16					2.17888e-05	2.33278e-05	1	0	A	67075902	C	A	67075902	3	1	140	1	0	0	0	0	1	0	0	0	15276	710	25	4	1072	4	SSH3	11	67075902	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	4781217	67075902	67930614	137	26435											
P2RY2	5029	broad.mit.edu	37	chr11	72945651	72945651	+	Silent	SNP	C	C	T																															cgctggggccgggcccgctaCgctcgccgggtggccggggc																								rs147817701	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:72945651C>T	ENST00000311131.2	+	3	914	c.447C>T	c.(445-447)taC>taT	p.Y149Y	P2RY2_ENST00000393596.2_Silent_p.Y149Y|P2RY2_ENST00000393597.2_Silent_p.Y149Y	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	149					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGGCCCGCTACGCTCGCCGGG	0.697													17	57					0	0	0	0	T	72945651	C	T	72945651	2	4	140	1	0	0	0	0	0	0	0	1	11423	547	19	1		1	P2RY2	11	72945651	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	5869749	72945651	62060865	138	26436	212	2									
P2RY2	5029	broad.mit.edu	37	chr11	72945652	72945652	+	Missense_Mutation	SNP	G	G	T																															gctggggccgggcccgctacGctcgccgggtggccggggcc																										TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:72945652G>T	ENST00000311131.2	+	3	915	c.448G>T	c.(448-450)Gct>Tct	p.A150S	P2RY2_ENST00000393596.2_Missense_Mutation_p.A150S|P2RY2_ENST00000393597.2_Missense_Mutation_p.A150S	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	150					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGCCCGCTACGCTCGCCGGGT	0.701													17	59					3.41278e-10	3.83938e-10	1	0	T	72945652	G	T	72945652	3	4	140	1	0	0	0	0	1	0	0	0	11423	1087	38	3	450	3	P2RY2	11	72945652	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	1	72945652	62060864	139	26437	212	2									
DIXDC1	85458	broad.mit.edu	37	chr11	111839271	111839271	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggggtacagctgagtccCggtaaccaacaggagatgaa	13	6	14	8	1	0	3	0	2	0	1	1	4	1	3	2	4	4	3	2	4	4	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:111839271C>T	ENST00000440460.2	+	3	522	c.225C>T	c.(223-225)ccC>ccT	p.P75P	DIXDC1_ENST00000529225.1_Silent_p.P74P|DIXDC1_ENST00000531396.1_Silent_p.P75P|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	75	CH.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AGCTGAGTCCCGGTAACCAAC	0.438													11	17					0	0	0	0	T	111839271	C	T	111839271	2	4	140	1	0	0	0	0	0	0	0	1	4578	639	23	1		1	DIXDC1	11	111839271	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	38893619	111839271	23167245	140	26438											
NCAM1	4684	broad.mit.edu	37	chr11	113130973	113130973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaggtctacgtggtggctGagaaccagcaaggaaaatcc	13	7	13	8	1	1	2	0	2	1	1	2	4	2	3	2	4	3	2	2	4	5	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:113130973G>A	ENST00000316851.7	+	15	2029	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	NCAM1_ENST00000533760.1_Missense_Mutation_p.E559K|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	687	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CGTGGTGGCTGAGAACCAGCA	0.557													13	81					0	0	0	0	A	113130973	G	A	113130973	3	1	140	1	0	0	0	0	1	0	0	0	10272	1291	45	2	2239	2	NCAM1	11	113130973	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	1291702	113130973	21875543	141	26439											
HINFP	25988	broad.mit.edu	37	chr11	119003681	119003681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgcccgatccctctgctCtatcaagtcccattaccgca	8	10	6	17	2	3	0	1	0	2	0	5	1	5	0	4	0	3	2	4	0	3	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:119003681C>T	ENST00000350777.2	+	8	1046	c.983C>T	c.(982-984)tCt>tTt	p.S328F	HINFP_ENST00000527410.1_Missense_Mutation_p.S328F	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	328					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCCCTCTGCTCTATCAAGTCC	0.532													31	108					0	0	0	0	T	119003681	C	T	119003681	3	4	140	1	0	0	0	0	1	0	0	0	7160	913	32	2	1009	2	HINFP	11	119003681	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	5872708	119003681	16002835	142	26440											
ARHGEF12	23365	broad.mit.edu	37	chr11	120347948	120347948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaggacctaatctgtcGgatggctgcatcagtgaagg	9	9	14	9	1	2	1	1	1	1	0	3	3	2	3	1	5	1	3	1	5	2	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:120347948G>A	ENST00000397843.2	+	35	3552	c.3386G>A	c.(3385-3387)cGg>cAg	p.R1129Q	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R1026Q|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R1110Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1129	PH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTAATCTGTCGGATGGCTGCA	0.388			T	MLL	AML								5	45					0	0	0	0	A	120347948	G	A	120347948	3	1	140	1	0	0	0	0	1	0	0	0	899	1116	39	1	3524	1	ARHGEF12	11	120347948	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	1344267	120347948	14658568	143	26441											
BSX	390259	broad.mit.edu	37	chr11	122848393	122848393	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcccagctccccctcGtctccaatgtccacctcgtc	5	9	6	21	2	1	1	0	1	1	0	7	1	3	1	7	0	2	1	7	0	1	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:122848393G>A	ENST00000343035.2	-	3	714	c.666C>T	c.(664-666)gaC>gaT	p.D222D		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	222										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCTCCCCCTCGTCTCCAATGT	0.731													8	56					0	0	0	0	A	122848393	G	A	122848393	2	1	140	1	0	0	0	0	0	0	0	1	1543	1136	40	1		1	BSX	11	122848393	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	2500445	122848393	12158123	144	26442											
ADAMTS8	11095	broad.mit.edu	37	chr11	130281428	130281428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacggtgtgaaaactgtactCctcctccacaggtccgagaa	11	8	9	13	2	0	2	0	1	0	1	4	3	4	2	4	2	2	1	4	2	4	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:130281428C>T	ENST00000257359.6	-	6	2340	c.1634G>A	c.(1633-1635)gGa>gAa	p.G545E		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	545	TSP type-1 1.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AAACTGTACTCCTCCTCCACA	0.587													9	59					0	0	0	0	T	130281428	C	T	130281428	3	4	140	1	0	0	0	0	1	0	0	0	272	855	30	2	1051	2	ADAMTS8	11	130281428	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	7433035	130281428	4725088	145	26443											
PLBD1	79887	broad.mit.edu	37	chr12	14689560	14689560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaaaacctttaggctgcCgttttttgtgggagagagtg	9	14	12	6	1	0	1	0	0	0	1	0	3	0	2	2	2	2	2	2	2	4	6			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:14689560C>T	ENST00000240617.5	-	5	1295	c.643G>A	c.(643-645)Ggc>Agc	p.G215S		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	215					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TTTAGGCTGCCGTTTTTTGTG	0.448													17	97					0	0	0	0	T	14689560	C	T	14689560	3	4	140	1	0	0	0	0	1	0	0	0	12097	652	23	1	1046	1	PLBD1	12	14689560	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08		14689560	119162335	146	26444											
ADAMTS20	80070	broad.mit.edu	37	chr12	43769222	43769222	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatcaattcttattttgctGaaaacagtgtatccagcagc	13	13	7	8	0	2	2	1	1	1	1	3	2	3	2	1	0	4	3	1	0	5	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:43769222G>A	ENST00000389420.3	-	36	5405	c.5406C>T	c.(5404-5406)ttC>ttT	p.F1802F		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1802	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTATTTTGCTGAAAACAGTGT	0.343													9	53					0	0	0	0	A	43769222	G	A	43769222	2	1	140	1	0	0	0	0	0	0	0	1	266	1281	45	2		2	ADAMTS20	12	43769222	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	29079662	43769222	90082673	147	26445											
RARG	5916	broad.mit.edu	37	chr12	53609533	53609533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcggagggggcgagggcGagctgggcaccatctcctct	6	5	19	11	3	2	0	0	0	2	0	3	4	2	1	2	6	1	2	2	6	0	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:53609533G>A	ENST00000425354.2	-	4	717	c.230C>T	c.(229-231)tCg>tTg	p.S77L	RARG_ENST00000327550.3_Missense_Mutation_p.S5L|RARG_ENST00000543762.1_Intron|RARG_ENST00000338561.5_Missense_Mutation_p.S66L|RARG_ENST00000394426.1_Missense_Mutation_p.S77L|RARG_ENST00000543726.1_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	77	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGGCGAGGGCGAGCTGGGCAC	0.617													8	75					0	0	0	0	A	53609533	G	A	53609533	3	1	140	1	0	0	0	0	1	0	0	0	13136	1059	37	1	1162	1	RARG	12	53609533	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	9840311	53609533	80242362	148	26446											
MAP3K12	7786	broad.mit.edu	37	chr12	53876704	53876704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcatgatgaagcccaCggagggcgggagggcaggcc	9	3	20	9	2	1	2	1	2	0	0	1	5	1	5	2	7	1	1	2	7	1	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:53876704C>T	ENST00000267079.2	-	12	2009	c.1784G>A	c.(1783-1785)cGt>cAt	p.R595H	MAP3K12_ENST00000547035.1_Missense_Mutation_p.R628H|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R628H	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	595					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ATGAAGCCCACGGAGGGCGGG	0.672													9	59					0	0	0	0	T	53876704	C	T	53876704	3	4	140	1	0	0	0	0	1	0	0	0	9315	536	19	1	811	1	MAP3K12	12	53876704	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	267171	53876704	79975191	149	26447											
ZNF385A	25946	broad.mit.edu	37	chr12	54764735	54764735	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagttggacctccgagttGaccttgacattgcagatctc	8	13	9	11	1	2	3	1	2	1	1	4	5	3	4	3	1	1	3	3	1	0	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:54764735G>A	ENST00000546970.1	-	7	1039	c.750C>T	c.(748-750)gtC>gtT	p.V250V	ZNF385A_ENST00000352268.6_Silent_p.V189V|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000338010.5_Silent_p.V270V|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551771.1_Silent_p.V169V|ZNF385A_ENST00000551109.1_Silent_p.V250V|ZNF385A_ENST00000394313.2_Silent_p.V250V			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCTCCGAGTTGACCTTGACAT	0.597											OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	120					0	0	0	0	A	54764735	G	A	54764735	2	1	140	1	0	0	0	0	0	0	0	1	17971	1277	45	2		2	ZNF385A	12	54764735	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	888031	54764735	79087160	150	26448											
HELB	92797	broad.mit.edu	37	chr12	66703855	66703855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcatttatgtgtcgatgtcGaaaaggtgcttgcctctatt	8	15	11	7	2	1	0	0	0	1	0	3	2	1	0	1	2	2	2	1	2	4	5	rs144350290		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:66703855G>A	ENST00000247815.4	+	4	1206	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	383					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TGTCGATGTCGAAAAGGTGCT	0.418													24	216					0	0	0	0	A	66703855	G	A	66703855	3	1	140	1	0	0	0	0	1	0	0	0	7095	1059	37	1	1161	1	HELB	12	66703855	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	11939120	66703855	67148040	151	26449											
THAP2	83591	broad.mit.edu	37	chr12	72068160	72068160	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaccatttttgatttttgTacccatataaagtctatggt	11	17	5	8	0	1	1	0	1	1	0	1	1	1	1	3	1	2	1	3	1	6	8			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:72068160T>G	ENST00000308086.2	+	2	1750	c.249T>G	c.(247-249)tgT>tgG	p.C83W	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.C59W	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	83						nucleolus	DNA binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						TTGATTTTTGTACCCATATAA	0.333													12	63					0	0	0	0	G	72068160	T	G	72068160	3	3	140	1	0	0	0	0	1	0	0	0	15938	1644	57	5	255	5	THAP2	12	72068160	Missense_Mutation	SNP	T	TCGA-CQ-5333-01A-01D-2394-08	5364305	72068160	61783735	152	26450											
TMTC3	160418	broad.mit.edu	37	chr12	88588999	88588999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatccaagcaatgtgcaagGaaaacacaatctttgtgttg	14	10	10	7	0	1	0	0	0	1	0	2	2	2	2	1	2	3	3	1	2	6	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:88588999G>T	ENST00000266712.6	+	14	2538	c.2318G>T	c.(2317-2319)gGa>gTa	p.G773V		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	774						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AATGTGCAAGGAAAACACAAT	0.318													13	52					5.50884e-06	5.98696e-06	1	0	T	88588999	G	T	88588999	3	4	140	1	0	0	0	0	1	0	0	0	16356	1174	41	2	2368	2	TMTC3	12	88588999	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	16520839	88588999	45262896	153	26451											
CRY1	1407	broad.mit.edu	37	chr12	107415954	107415954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attggcatcaagatcctcaaGacactgaagcaaaaatctag	17	8	7	9	0	3	3	2	1	1	2	4	3	4	3	1	1	1	2	1	1	6	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:107415954G>C	ENST00000008527.5	-	2	1042	c.175C>G	c.(175-177)Ctt>Gtt	p.L59V		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	59	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						AGATCCTCAAGACACTGAAGC	0.313													18	102					0	0	0	0	C	107415954	G	C	107415954	3	2	140	1	0	0	0	0	1	0	0	0	3933	942	33	2	1629	2	CRY1	12	107415954	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	18826955	107415954	26435941	154	26452											
CUX2	23316	broad.mit.edu	37	chr12	111746110	111746110	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctgaaagccatgaagctGgcctccagcacctgcagcct	10	7	9	15	0	0	2	0	2	0	0	2	2	2	2	6	1	5	3	6	1	2	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:111746110G>T	ENST00000261726.6	+	13	1285	c.1131G>T	c.(1129-1131)ctG>ctT	p.L377L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	377						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCATGAAGCTGGCCTCCAGCA	0.652													31	107					2.47316e-13	2.83773e-13	1	0	T	111746110	G	T	111746110	2	4	140	1	0	0	0	0	0	0	0	1	4097	1335	47	4		4	CUX2	12	111746110	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	4330156	111746110	22105785	155	26453											
TMEM132D	121256	broad.mit.edu	37	chr12	130185231	130185231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctctcaaggatccctCgaccttccgtcactgtgggg	6	10	12	13	2	2	0	2	0	1	0	6	3	4	2	3	4	1	1	3	4	1	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:130185231C>A	ENST00000422113.2	-	2	418	c.92G>T	c.(91-93)cGa>cTa	p.R31L		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	31						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAGGATCCCTCGACCTTCCGT	0.547													5	54					1	1	1	0	A	130185231	C	A	130185231	3	1	140	1	0	0	0	0	1	0	0	0	16141	884	31	3	3239	3	TMEM132D	12	130185231	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	18439121	130185231	3666664	156	26454											
LATS2	26524	broad.mit.edu	37	chr13	21549414	21549414	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccccaggcggtggtctgcGgagcagcacagcttggtgat	6	7	16	12	3	1	1	0	1	1	0	1	2	1	2	2	5	4	3	2	5	0	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:21549414G>A	ENST00000382592.4	-	8	3267	c.2862C>T	c.(2860-2862)tcC>tcT	p.S954S	LATS2_ENST00000542899.1_Silent_p.S954S	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	954	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGTGGTCTGCGGAGCAGCACA	0.617													6	45					0	0	0	0	A	21549414	G	A	21549414	2	1	140	1	0	0	0	0	0	0	0	1	8700	1103	39	1		1	LATS2	13	21549414	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08		21549414	93620464	157	26455											
ATP8A2	51761	broad.mit.edu	37	chr13	26273442	26273442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcgaagtccggaggagtttCctggatttggcactctcgtg	6	13	13	9	3	1	0	0	0	1	0	5	4	3	3	2	4	0	2	2	4	1	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:26273442C>A	ENST00000381655.2	+	25	2485	c.2343C>A	c.(2341-2343)ttC>ttA	p.F781L	ATP8A2_ENST00000255283.8_Missense_Mutation_p.F741L|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	741					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGAGGAGTTTCCTGGATTTGG	0.542													5	35					0.000602214	0.000623877	1	0	A	26273442	C	A	26273442	3	1	140	1	0	0	0	0	1	0	0	0	1197	854	30	2	2441	2	ATP8A2	13	26273442	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	4724028	26273442	88896436	158	26456											
SLC7A1	6541	broad.mit.edu	37	chr13	30110249	30110249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcagcgagacagccgcGtctcctcccggctacagtcc	7	6	11	17	4	2	1	1	0	1	1	5	2	4	1	4	2	3	2	4	2	1	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:30110249G>A	ENST00000380752.5	-	3	463	c.77C>T	c.(76-78)aCg>aTg	p.T26M		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	26					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGACAGCCGCGTCTCCTCCCG	0.607													7	54					0	0	0	0	A	30110249	G	A	30110249	3	1	140	1	0	0	0	0	1	0	0	0	14780	1145	40	1	1856	1	SLC7A1	13	30110249	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	3836807	30110249	85059629	159	26457											
MAB21L1	4081	broad.mit.edu	37	chr13	36049604	36049604	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaggcgtcgctctccgcCgagctctgcttgccggccaa	5	7	11	18	5	2	0	0	0	2	0	4	1	2	0	5	2	3	3	5	2	1	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:36049604C>T	ENST00000379919.4	-	1	1228	c.672G>A	c.(670-672)tcG>tcA	p.S224S	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	224					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CGCTCTCCGCCGAGCTCTGCT	0.612													11	94					0	0	0	0	T	36049604	C	T	36049604	2	4	140	1	0	0	0	0	0	0	0	1	9206	639	23	1		1	MAB21L1	13	36049604	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	5939355	36049604	79120274	160	26458											
FREM2	341640	broad.mit.edu	37	chr13	39262646	39262646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcactcagagggatctgCggctcctgaagattgcctac	8	10	10	13	1	3	3	2	1	1	2	4	4	4	4	3	2	3	1	3	2	2	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:39262646C>T	ENST00000280481.7	+	1	1381	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	389					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGGGATCTGCGGCTCCTGAA	0.552													12	71					0	0	0	0	T	39262646	C	T	39262646	3	4	140	1	0	0	0	0	1	0	0	0	6093	759	27	1	1167	1	FREM2	13	39262646	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	3213042	39262646	75907232	161	26459											
STOML3	161003	broad.mit.edu	37	chr13	39546701	39546701	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcaactttgacaaacAcatctatgcatggcaggacc	13	8	10	10	0	2	1	1	1	1	0	2	3	2	3	1	4	3	2	1	4	3	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:39546701A>C	ENST00000379631.4	-	4	604	c.260T>G	c.(259-261)gTg>gGg	p.V87G	STOML3_ENST00000423210.1_Missense_Mutation_p.V78G	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	87						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TTTGACAAACACATCTATGCA	0.368													18	111					0	0	0	0	C	39546701	A	C	39546701	3	2	140	1	0	0	0	0	1	0	0	0	15405	159	6	5	631	5	STOML3	13	39546701	Missense_Mutation	SNP	A	TCGA-CQ-5333-01A-01D-2394-08	284055	39546701	75623177	162	26460											
PCDH17	27253	broad.mit.edu	37	chr13	58298781	58298781	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaattgcacagatgaatgcCgagtgcttggtcattctgac	10	13	10	8	1	2	3	1	2	1	1	2	4	2	3	1	1	3	2	1	1	2	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:58298781C>T	ENST00000377918.3	+	4	2859	c.2833C>T	c.(2833-2835)Cga>Tga	p.R945*		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	945					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGATGAATGCCGAGTGCTTGG	0.423													11	45					0	0	0	0	T	58298781	C	T	58298781	4	4	140	1	0	0	0	0	0	1	0	0	11583	644	23	1	2847	1	PCDH17	13	58298781	Nonsense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	18752080	58298781	56871097	163	26461											
MYH6	4624	broad.mit.edu	37	chr14	23855643	23855643	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcttcttcttcaccctcaGgacctcgttgcggctgcgtg	4	13	9	15	3	5	0	2	0	3	0	6	1	5	1	2	2	2	2	2	2	0	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:23855643G>A	ENST00000405093.3	-	33	4910	c.4840C>T	c.(4840-4842)Ctg>Ttg	p.L1614L	MYH6_ENST00000356287.3_Silent_p.L1614L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1614					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCACCCTCAGGACCTCGTTG	0.602													25	140					0	0	0	0	A	23855643	G	A	23855643	2	1	140	1	0	0	0	0	0	0	0	1	10108	991	35	4		4	MYH6	14	23855643	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08		23855643	83493897	164	26462											
MDP1	145553	broad.mit.edu	37	chr14	24683559	24683559	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccgcctctcatcatcaaaGaagatcatctgggagaaagg	13	9	9	10	1	5	3	4	0	2	3	7	4	6	3	2	2	0	0	2	2	3	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:24683559G>C	ENST00000288087.7	-	5	471	c.360C>G	c.(358-360)ttC>ttG	p.F120L	MDP1_ENST00000532557.1_Intron|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Intron|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.F137L	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1									p.F120L(1)		breast(2)|large_intestine(2)|lung(3)	7						CATCATCAAAGAAGATCATCT	0.478													10	107					0	0	0	0	C	24683559	G	C	24683559	3	2	140	1	0	0	0	0	1	0	0	0	9485	933	33	2	178	2	MDP1	14	24683559	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	827916	24683559	82665981	165	26463											
NPAS3	64067	broad.mit.edu	37	chr14	34269118	34269118	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgacagcttcgagcactcGgactttgagaaccccaaggc	11	6	11	13	3	0	1	0	1	0	1	2	6	0	2	2	2	3	2	2	2	2	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:34269118G>A	ENST00000346562.2	+	11	1583	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	NPAS3_ENST00000357798.5_Silent_p.S522S|NPAS3_ENST00000356141.4_Silent_p.S535S|NPAS3_ENST00000551492.1_Silent_p.S540S|NPAS3_ENST00000548645.1_Silent_p.S505S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TCGAGCACTCGGACTTTGAGA	0.642													9	34					0	0	0	0	A	34269118	G	A	34269118	2	1	140	1	0	0	0	0	0	0	0	1	10634	1103	39	1		1	NPAS3	14	34269118	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	9585559	34269118	73080422	166	26464											
MDGA2	161357	broad.mit.edu	37	chr14	47426671	47426671	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggaaagactcttcacagcGtactctgtgtattcctgaga	10	13	9	9	1	3	2	1	1	2	2	4	4	4	3	1	1	2	2	1	1	3	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:47426671G>A	ENST00000426342.1	-	9	1847	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	MDGA2_ENST00000357362.3_Silent_p.Y367Y|MDGA2_ENST00000439988.2_Silent_p.Y596Y|MDGA2_ENST00000399232.2_Silent_p.Y665Y	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	596	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTTCACAGCGTACTCTGTGT	0.443													14	56					0	0	0	0	A	47426671	G	A	47426671	2	1	140	1	0	0	0	0	0	0	0	1	9476	1140	40	1		1	MDGA2	14	47426671	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	13157553	47426671	59922869	167	26465											
GPR135	64582	broad.mit.edu	37	chr14	59931664	59931682	+	Frame_Shift_Del	DEL	GCCGCCTCCGGGCCTAGCG	GCCGCCTCCGGGCCTAGCG	-																															ctccgtgcgacagcagcggcGccgcctccgggcctagcggc																										TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:59931664_59931682delGCCGCCTCCGGGCCTAGCG	ENST00000395116.1	-	1	378_396	c.263_281delCGCTAGGCCCGGAGGCGGC	c.(262-282)cgfs	p.PLGPEAA88fs		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	88						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		CAGCAGcggcgccgcctccgggcctagcggccgcctcac	0.758													3	5	---	---	---	---					-	59931682	GCCGCCTCCGGGCCTAGCG	-	59931664	7	5	140	1	0	1	0	1	0	0	0	0	6693	1087	38	0	1207	0	GPR135	14	59931664	Frame_Shift_Del	DEL	GCCGCCTCCGGGCCTAGCG	TCGA-CQ-5333-01A-01D-2394-08	12504993	59931664	47417876	168	26466											
DYNC1H1	1778	broad.mit.edu	37	chr14	102469281	102469281	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgggagaatatctggaaaGagagcggtcatctttcccca	12	10	11	8	1	3	2	1	0	2	2	4	5	4	3	2	3	1	0	2	3	3	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:102469281G>C	ENST00000360184.4	+	23	5026	c.4862G>C	c.(4861-4863)aGa>aCa	p.R1621T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1621	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TATCTGGAAAGAGAGCGGTCA	0.453													10	46					0	0	0	0	C	102469281	G	C	102469281	3	2	140	1	0	0	0	0	1	0	0	0	4877	942	33	2	4952	2	DYNC1H1	14	102469281	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	42537617	102469281	4880259	169	26467											
ATP10A	57194	broad.mit.edu	37	chr15	25924905	25924905	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctggcctccagggagcaGaccggctgctgtgtgtgcca	5	7	15	14	2	0	1	0	0	0	1	1	2	1	2	5	3	3	4	5	3	0	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:25924905G>T	ENST00000356865.6	-	21	4194	c.4083C>A	c.(4081-4083)gtC>gtA	p.V1361V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1361					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCAGGGAGCAGACCGGCTGCT	0.662													8	95					0.000157383	0.000164823	1	0	T	25924905	G	T	25924905	2	4	140	1	0	0	0	0	0	0	0	1	1120	929	33	2		2	ATP10A	15	25924905	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08		25924905	76606487	170	26468											
GABRA5	2558	broad.mit.edu	37	chr15	27185171	27185171	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataatgaccgtgatcttatCacaggtgtccttttggctga	9	14	9	9	1	2	3	1	3	1	0	3	3	3	3	2	2	0	1	2	2	2	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:27185171C>G	ENST00000335625.5	+	9	1712	c.824C>G	c.(823-825)tCa>tGa	p.S275*	GABRA5_ENST00000355395.5_Nonsense_Mutation_p.S275*|GABRA5_ENST00000400081.3_Nonsense_Mutation_p.S275*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	275					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTGATCTTATCACAGGTGTCC	0.502													8	26					0	0	0	0	G	27185171	C	G	27185171	4	3	140	1	0	0	0	0	0	1	0	0	6212	838	29	2	850	2	GABRA5	15	27185171	Nonsense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	1260266	27185171	75346221	171	26469											
CHST14	113189	broad.mit.edu	37	chr15	40764195	40764195	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgacgatgtcacattcccCgagttcctgagatacctggt	8	10	11	12	3	1	1	1	1	0	1	3	5	3	1	4	2	1	1	4	2	1	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:40764195C>G	ENST00000306243.5	+	1	1036	c.783C>G	c.(781-783)ccC>ccG	p.P261P	CHST14_ENST00000559991.1_Silent_p.P236P	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	261					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		TCACATTCCCCGAGTTCCTGA	0.602													29	134					0	0	0	0	G	40764195	C	G	40764195	2	3	140	1	0	0	0	0	0	0	0	1	3431	639	23	3		3	CHST14	15	40764195	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	13579024	40764195	61767197	172	26470											
RHOV	171177	broad.mit.edu	37	chr15	41165441	41165441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcaggctcggatcttctCggccagaccctgagcctggg	6	7	14	14	2	2	2	0	1	2	1	4	3	2	3	3	4	2	3	3	4	0	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:41165441C>T	ENST00000220507.4	-	3	675	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN	ras homolog family member V	176					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)		CGGATCTTCTCGGCCAGACCC	0.592													13	125					0	0	0	0	T	41165441	C	T	41165441	3	4	140	1	0	0	0	0	1	0	0	0	13429	893	31	1	188	1	RHOV	15	41165441	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	401246	41165441	61365951	173	26471											
MFAP1	4236	broad.mit.edu	37	chr15	44107241	44107241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcactctctcctaccacttCaggttccactatttttcgat	7	16	4	14	1	3	0	2	0	1	0	7	1	5	0	3	1	1	1	3	1	2	6			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:44107241C>T	ENST00000267812.3	-	3	563	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	111						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CCTACCACTTCAGGTTCCACT	0.423													20	99					0	0	0	0	T	44107241	C	T	44107241	3	4	140	1	0	0	0	0	1	0	0	0	9582	835	29	2	1016	2	MFAP1	15	44107241	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	2941800	44107241	58424151	174	26472											
RFX7	64864	broad.mit.edu	37	chr15	56393610	56393610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattgacttggtgcctataTagtgactttttacaaggaag	11	14	9	7	0	0	2	0	2	0	0	0	3	0	3	2	2	2	0	2	2	6	8			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:56393610T>C	ENST00000423270.1	-	7	757	c.758A>G	c.(757-759)tAt>tGt	p.Y253C	RFX7_ENST00000559447.2_Missense_Mutation_p.Y156C|RFX7_ENST00000317318.6_Missense_Mutation_p.Y253C|RFX7_ENST00000422057.1_Missense_Mutation_p.Y156C	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	156					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGTGCCTATATAGTGACTTTT	0.453													6	19					0	0	0	0	C	56393610	T	C	56393610	3	2	140	1	0	0	0	0	1	0	0	0	13350	1406	49	5	3636	5	RFX7	15	56393610	Missense_Mutation	SNP	T	TCGA-CQ-5333-01A-01D-2394-08	12286369	56393610	46137782	175	26473											
VPS13C	54832	broad.mit.edu	37	chr15	62234017	62234017	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttatcaatgactggaggaaGagaataatgttccataggaa	16	11	10	4	0	1	2	1	1	0	1	2	6	2	5	1	3	0	1	1	3	7	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:62234017G>C	ENST00000261517.5	-	46	5471	c.5398C>G	c.(5398-5400)Ctt>Gtt	p.L1800V	VPS13C_ENST00000395896.4_Missense_Mutation_p.L1800V|VPS13C_ENST00000249837.3_Missense_Mutation_p.L1757V|VPS13C_ENST00000395898.3_Missense_Mutation_p.L1757V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1800					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACTGGAGGAAGAGAATAATGT	0.348													12	64					0	0	0	0	C	62234017	G	C	62234017	3	2	140	1	0	0	0	0	1	0	0	0	17287	942	33	2	6051	2	VPS13C	15	62234017	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	5840407	62234017	40297375	176	26474											
ARID3B	10620	broad.mit.edu	37	chr15	74836400	74836400	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagagaagcccagttcttGtatgcccaaaagctggtcac	12	9	10	10	0	2	2	1	1	1	1	2	3	2	2	2	1	3	3	2	1	4	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:74836400G>A	ENST00000346246.5	+	2	354	c.123G>A	c.(121-123)ttG>ttA	p.L41L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	41	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCAGTTCTTGTATGCCCAAA	0.577													10	36					0	0	0	0	A	74836400	G	A	74836400	2	1	140	1	0	0	0	0	0	0	0	1	919	1368	48	4		4	ARID3B	15	74836400	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	12602383	74836400	27694992	177	26475											
IQGAP1	8826	broad.mit.edu	37	chr15	91030268	91030268	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaccctgaccaacaagttCgacgtgcctggagatgagaa	12	7	10	12	2	1	3	1	2	0	2	2	6	1	3	3	1	2	1	3	1	3	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:91030268C>T	ENST00000268182.5	+	32	4231	c.4107C>T	c.(4105-4107)ttC>ttT	p.F1369F	IQGAP1_ENST00000560738.1_Silent_p.F797F	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1369	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CCAACAAGTTCGACGTGCCTG	0.443													15	76					0	0	0	0	T	91030268	C	T	91030268	2	4	140	1	0	0	0	0	0	0	0	1	7867	883	31	1		1	IQGAP1	15	91030268	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	16193868	91030268	11501124	178	26476											
AMDHD2	51005	broad.mit.edu	37	chr16	2578096	2578096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgcgggcggcagaggatGctgtgtggagcggagccacc	7	5	18	11	3	0	1	0	0	0	1	0	4	0	4	3	5	4	2	3	5	0	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:2578096G>T	ENST00000302956.4	+	6	758	c.664G>T	c.(664-666)Gct>Tct	p.A222S	AMDHD2_ENST00000293971.6_Missense_Mutation_p.A222S|AMDHD2_ENST00000413459.3_Missense_Mutation_p.A222S|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	222					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GGCAGAGGATGCTGTGTGGAG	0.687													13	104					1.36491e-13	1.57238e-13	1	0	T	2578096	G	T	2578096	3	4	140	1	0	0	0	0	1	0	0	0	568	1319	46	4	686	4	AMDHD2	16	2578096	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08		2578096	87776657	179	26477											
CREBBP	1387	broad.mit.edu	37	chr16	3819189	3819189	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acccacctcagacctgggctCccctttggattcaccaggat	8	9	8	16	0	2	1	2	0	0	1	3	3	3	3	6	3	0	1	6	3	0	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:3819189C>A	ENST00000262367.5	-	15	3855	c.3046G>T	c.(3046-3048)Gag>Tag	p.E1016*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E978*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1016					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GACCTGGGCTCCCCTTTGGAT	0.592			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						16	70					1.56452e-12	1.78096e-12	1	0	A	3819189	C	A	3819189	4	1	140	1	0	0	0	0	0	1	0	0	3891	864	30	2	4350	2	CREBBP	16	3819189	Nonsense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	1241093	3819189	86535564	180	26478											
SEC14L5	9717	broad.mit.edu	37	chr16	5053443	5053443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggagggactcaacatgCggcacctgtggcggccgggg	7	5	17	12	3	1	0	1	0	0	0	1	2	1	2	3	7	2	1	3	7	1	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:5053443C>T	ENST00000251170.7	+	11	1351	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	391	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACTCAACATGCGGCACCTGTG	0.637													7	47					0	0	0	0	T	5053443	C	T	5053443	3	4	140	1	0	0	0	0	1	0	0	0	14072	759	27	1	1209	1	SEC14L5	16	5053443	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	1234254	5053443	85301310	181	26479											
C16orf89	146556	broad.mit.edu	37	chr16	5112513	5112513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccccagcatccccacgcGcaggctcagcggctgcagca	7	4	10	20	3	1	0	1	0	0	0	3	0	3	0	4	2	4	6	4	2	0	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:5112513G>A	ENST00000315997.5	-	2	472	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	C16orf89_ENST00000422873.1_Missense_Mutation_p.R129C|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Missense_Mutation_p.R91C|C16orf89_ENST00000474471.3_Missense_Mutation_p.R91C|C16orf89_ENST00000350219.4_Missense_Mutation_p.R129C	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	91						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						ATCCCCACGCGCAGGCTCAGC	0.567													12	66					0	0	0	0	A	5112513	G	A	5112513	3	1	140	1	0	0	0	0	1	0	0	0	1855	1087	38	1	1100	1	C16orf89	16	5112513	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	59070	5112513	85242240	182	26480											
ABCC1	4363	broad.mit.edu	37	chr16	16146637	16146637	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtcctcatggtgcccgtCaatgctgtgatggcgatgaa	8	11	13	9	2	2	2	2	2	0	0	3	3	3	2	2	3	2	1	2	3	2	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:16146637C>A	ENST00000399408.2	+	11	1612	c.1437C>A	c.(1435-1437)gtC>gtA	p.V479V	ABCC1_ENST00000399410.3_Silent_p.V479V|ABCC1_ENST00000349029.5_Silent_p.V479V|ABCC1_ENST00000346370.5_Silent_p.V479V|ABCC1_ENST00000345148.5_Silent_p.V479V|ABCC1_ENST00000351154.5_Silent_p.V479V			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	479	ABC transmembrane type-1 1.				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)	TGGTGCCCGTCAATGCTGTGA	0.572													7	52					0.000157383	0.000164823	1	0	A	16146637	C	A	16146637	2	1	140	1	0	0	0	0	0	0	0	1	49	813	29	2		2	ABCC1	16	16146637	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	11034124	16146637	74208116	183	26481											
KIF22	3835	broad.mit.edu	37	chr16	29816601	29816601	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caggcaaacatcctgggtctCgccgccggccagcgctgtgg	6	6	14	15	4	1	0	0	0	1	0	3	0	2	0	4	4	2	2	4	4	1	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:29816601C>G	ENST00000561482.1	+	14	2401	c.1764C>G	c.(1762-1764)ctC>ctG	p.L588L	KIF22_ENST00000569382.2_Silent_p.L602L|KIF22_ENST00000160827.4_Silent_p.L656L|KIF22_ENST00000400751.5_Silent_p.L588L	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	656					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCCTGGGTCTCGCCGCCGGCC	0.607													33	191					0	0	0	0	G	29816601	C	G	29816601	2	3	140	1	0	0	0	0	0	0	0	1	8341	871	31	3		3	KIF22	16	29816601	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	13669964	29816601	60538152	184	26482											
BCKDK	10295	broad.mit.edu	37	chr16	31121413	31121413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcatgagctatatatcCgtgccttccagaagctgaca	11	10	9	11	1	0	3	0	2	0	1	2	3	2	3	3	0	5	4	3	0	4	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:31121413C>T	ENST00000394951.1	+	6	1014	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	BCKDK_ENST00000394950.3_Missense_Mutation_p.R131C|BCKDK_ENST00000219794.6_Missense_Mutation_p.R131C|BCKDK_ENST00000287507.3_Missense_Mutation_p.R131C			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	131					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						GCTATATATCCGTGCCTTCCA	0.587													16	73					0	0	0	0	T	31121413	C	T	31121413	3	4	140	1	0	0	0	0	1	0	0	0	1365	652	23	1	405	1	BCKDK	16	31121413	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	1304812	31121413	59233340	185	26483											
TOX3	27324	broad.mit.edu	37	chr16	52480095	52480095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttggagtcttgggcttCttgccagagtctggagcagc	5	14	13	9	0	4	1	0	0	4	1	4	3	4	3	1	3	3	2	1	3	0	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:52480095C>A	ENST00000219746.9	-	5	1001	c.717G>T	c.(715-717)aaG>aaT	p.K239N	TOX3_ENST00000407228.3_Missense_Mutation_p.K234N	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	239					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TCTTGGGCTTCTTGCCAGAGT	0.453													6	47					3.59834e-05	3.82406e-05	1	0	A	52480095	C	A	52480095	3	1	140	1	0	0	0	0	1	0	0	0	16474	912	32	2	1025	2	TOX3	16	52480095	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	21358682	52480095	37874658	186	26484											
CTCF	10664	broad.mit.edu	37	chr16	67650654	67650654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctttctctaggtactcGtcctcacaagtgcccagact	8	12	6	15	1	2	1	1	0	1	1	6	1	4	1	3	1	2	1	3	1	3	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:67650654G>A	ENST00000264010.4	+	5	1403	c.959G>A	c.(958-960)cGt>cAt	p.R320H	CTCF_ENST00000401394.1_5'UTR	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	320					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CTAGGTACTCGTCCTCACAAG	0.488													23	214					0	0	0	0	A	67650654	G	A	67650654	3	1	140	1	0	0	0	0	1	0	0	0	4032	1145	40	1	969	1	CTCF	16	67650654	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	15170559	67650654	22704099	187	26485											
CHST6	4166	broad.mit.edu	37	chr16	75513163	75513163	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggttgagcgcggggtcgctGagcagcgggtagagcacctg	7	6	19	9	4	0	3	0	2	0	1	1	3	0	3	1	4	4	5	1	4	1	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:75513163G>C	ENST00000332272.4	-	3	743	c.564C>G	c.(562-564)ctC>ctG	p.L188L	CHST6_ENST00000390664.2_Silent_p.L188L|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	188					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGGGGTCGCTGAGCAGCGGGT	0.692													11	61					0	0	0	0	C	75513163	G	C	75513163	2	2	140	1	0	0	0	0	0	0	0	1	3437	1277	45	2		2	CHST6	16	75513163	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	7862509	75513163	14841590	188	26486											
CDH13	1012	broad.mit.edu	37	chr16	83520131	83520131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagatgacccagccacCgataatgccctcctgcggta	10	7	10	14	2	0	2	0	1	0	1	1	4	1	2	5	1	4	2	5	1	2	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:83520131C>T	ENST00000566620.1	+	7	1121	c.831C>T	c.(829-831)acC>acT	p.T277T	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Silent_p.T324T|CDH13_ENST00000428848.3_Silent_p.T238T	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	277	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACCCAGCCACCGATAATGCCC	0.517													10	60					0	0	0	0	T	83520131	C	T	83520131	2	4	140	1	0	0	0	0	0	0	0	1	3128	639	23	1		1	CDH13	16	83520131	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	8006968	83520131	6834622	189	26487											
RPA1	6117	broad.mit.edu	37	chr17	1782580	1782580	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgttaaaaatgactacgaGatgaccttcaataacgagac	16	9	8	8	2	1	4	1	2	0	2	1	6	1	4	1	0	2	2	1	0	6	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:1782580G>A	ENST00000254719.5	+	10	941	c.831G>A	c.(829-831)gaG>gaA	p.E277E	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	277					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ATGACTACGAGATGACCTTCA	0.468								Nucleotide excision repair (NER)					7	64					0	0	0	0	A	1782580	G	A	1782580	2	1	140	1	0	0	0	0	0	0	0	1	13621	933	33	2		2	RPA1	17	1782580	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08		1782580	79412630	190	26488											
ASPA	443	broad.mit.edu	37	chr17	3392544	3392544	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaggtatagaagttggtcCtcagcctcaaggggttctga	9	11	12	9	0	3	2	2	1	1	1	4	2	4	2	3	4	1	3	3	4	5	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:3392544C>A	ENST00000263080.2	+	4	700	c.542C>A	c.(541-543)cCt>cAt	p.P181H	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.P181H	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	181			P -> T (in CAND).		aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	GAAGTTGGTCCTCAGCCTCAA	0.308													11	95					0.000673444	0.000695168	1	0	A	3392544	C	A	3392544	3	1	140	1	0	0	0	0	1	0	0	0	1054	681	24	4	556	4	ASPA	17	3392544	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	1609964	3392544	77802666	191	26489											
GUCY2D	3000	broad.mit.edu	37	chr17	7917290	7917290	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtatcctcctgatgaagCagtgctgggcagagcagccg	9	8	14	10	1	0	3	0	2	0	1	2	3	2	3	3	1	4	5	3	1	2	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:7917290C>T	ENST00000254854.4	+	12	2506	c.2356C>T	c.(2356-2358)Cag>Tag	p.Q786*		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	786	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CCTGATGAAGCAGTGCTGGGC	0.647													11	63					0	0	0	0	T	7917290	C	T	7917290	4	4	140	1	0	0	0	0	0	1	0	0	6947	711	25	4	2398	4	GUCY2D	17	7917290	Nonsense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	4524746	7917290	73277920	192	26490											
MYH3	4621	broad.mit.edu	37	chr17	10543998	10543998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcactggcattcagcactCggtatctgcattgtagacat	9	13	9	10	1	2	1	1	0	1	1	3	1	2	1	0	2	3	6	0	2	2	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:10543998C>T	ENST00000583535.1	-	20	2258	c.2171G>A	c.(2170-2172)cGa>cAa	p.R724Q	MYH3_ENST00000226209.7_Missense_Mutation_p.R724Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	724	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						attcagcactcggtatctgca	0.458													11	47					0	0	0	0	T	10543998	C	T	10543998	3	4	140	1	0	0	0	0	1	0	0	0	10106	884	31	1	3739	1	MYH3	17	10543998	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	2626708	10543998	70651212	193	26491											
RAI1	10743	broad.mit.edu	37	chr17	17697199	17697199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacctcgccaagtatcagCactacgggcagcaaggccag	14	4	10	13	2	1	0	1	0	0	0	2	0	1	0	3	2	4	4	3	2	6	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:17697199C>T	ENST00000353383.1	+	3	1406	c.937C>T	c.(937-939)Cac>Tac	p.H313Y	RAI1_ENST00000261641.6_Missense_Mutation_p.H313Y	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	313	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAAGTATCAGCACTACGGGCA	0.637													26	106					0	0	0	0	T	17697199	C	T	17697199	3	4	140	1	0	0	0	0	1	0	0	0	13089	710	25	4	939	4	RAI1	17	17697199	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	7153201	17697199	63498011	194	26492											
SLC5A10	125206	broad.mit.edu	37	chr17	18922828	18922828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcttcatctacatgcagtCagtgaccagctccctggccc	8	10	7	16	0	4	1	2	1	2	0	5	1	5	1	3	1	3	2	3	1	1	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:18922828C>T	ENST00000317977.6	+	12	1815	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	SLC5A10_ENST00000395643.2_Missense_Mutation_p.S418L|SLC5A10_ENST00000395645.3_Missense_Mutation_p.S445L|SLC5A10_ENST00000395647.2_Missense_Mutation_p.S461L|SLC5A10_ENST00000395642.1_Missense_Mutation_p.S415L|SLC5A10_ENST00000417251.2_Missense_Mutation_p.S409L			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	445					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TACATGCAGTCAGTGACCAGC	0.632													4	27					0	0	0	0	T	18922828	C	T	18922828	3	4	140	1	0	0	0	0	1	0	0	0	14750	838	29	2	1428	2	SLC5A10	17	18922828	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	1225629	18922828	62272382	195	26493											
PIPOX	51268	broad.mit.edu	37	chr17	27380585	27380585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaccaaccagctcctccGtcccctgggcattgagatgc	7	9	10	15	1	0	1	0	1	0	1	3	3	3	2	6	2	3	2	6	2	1	2	rs76753427	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:27380585G>A	ENST00000323372.4	+	4	958	c.632G>A	c.(631-633)cGt>cAt	p.R211H	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	211					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CAGCTCCTCCGTCCCCTGGGC	0.542													10	58					0	0	0	0	A	27380585	G	A	27380585	3	1	140	1	0	0	0	0	1	0	0	0	12015	1145	40	1	646	1	PIPOX	17	27380585	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	8457757	27380585	53814625	196	26494											
MED1	5469	broad.mit.edu	37	chr17	37563838	37563838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagattgtgttacttgtcaTagacaaggactggtctgaag	12	13	11	5	0	2	3	1	1	1	2	2	4	2	4	0	2	1	1	0	2	5	5	rs149053045	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:37563838T>C	ENST00000300651.6	-	17	4859	c.4636A>G	c.(4636-4638)Atg>Gtg	p.M1546V	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1546					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTACTTGTCATAGACAAGGAC	0.473										HNSCC(31;0.082)			17	118					0	0	0	0	C	37563838	T	C	37563838	3	2	140	1	0	0	0	0	1	0	0	0	9494	1406	49	5	113	5	MED1	17	37563838	Missense_Mutation	SNP	T	TCGA-CQ-5333-01A-01D-2394-08	10183253	37563838	43631372	197	26495											
FZD2	2535	broad.mit.edu	37	chr17	42636594	42636594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggcgcactacacgccgcGcatgtcgcccgacttcacgg	6	5	11	19	8	1	0	1	0	0	0	2	1	1	0	3	2	1	2	3	2	1	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:42636594G>A	ENST00000315323.3	+	1	1670	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	513					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TACACGCCGCGCATGTCGCCC	0.627													3	34					0	0	0	0	A	42636594	G	A	42636594	3	1	140	1	0	0	0	0	1	0	0	0	6178	1087	38	1	1540	1	FZD2	17	42636594	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	5072756	42636594	38558616	198	26496											
CEP192	55125	broad.mit.edu	37	chr18	13113697	13113697	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgttgagattccaactctCtggacaagtgagtagtacac	12	10	9	10	1	1	2	0	2	1	1	3	4	2	3	1	1	2	3	1	1	4	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr18:13113697C>G	ENST00000506447.1	+	41	7240	c.7160C>G	c.(7159-7161)tCt>tGt	p.S2387C	CEP192_ENST00000430049.2_Missense_Mutation_p.S1912C|CEP192_ENST00000325971.8_Missense_Mutation_p.S1791C|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1982										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTCCAACTCTCTGGACAAGTG	0.378													8	25					0	0	0	0	G	13113697	C	G	13113697	3	3	140	1	0	0	0	0	1	0	0	0	3280	913	32	2	7318	2	CEP192	18	13113697	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08		13113697	64963551	199	26497											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260196	44260196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaaagaggtgcacctcctCacagagctccagcgccgcag	10	4	11	16	2	1	2	1	0	0	2	3	2	3	2	5	1	3	3	5	1	1	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr18:44260196C>T	ENST00000315087.7	-	7	1600	c.940G>A	c.(940-942)Gag>Aag	p.E314K	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.E283K|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E350K	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	314					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGCACCTCCTCACAGAGCTCC	0.627													15	96					0	0	0	0	T	44260196	C	T	44260196	3	4	140	1	0	0	0	0	1	0	0	0	15325	835	29	2	194	2	ST8SIA5	18	44260196	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	31146499	44260196	33817052	200	26498											
MED16	10025	broad.mit.edu	37	chr19	881615	881615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaggtcggtgttggtgagcGagatgggcagcttgggcagc	6	9	20	6	2	0	3	0	2	0	1	1	4	0	3	0	5	3	4	0	5	0	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:881615G>A	ENST00000312090.6	-	7	1235	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	MED16_ENST00000589119.1_Missense_Mutation_p.S362L|MED16_ENST00000325464.1_Missense_Mutation_p.S362L|MED16_ENST00000269814.4_Missense_Mutation_p.S362L|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Missense_Mutation_p.S362L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	362					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		GTTGGTGAGCGAGATGGGCAG	0.632													15	79					0	0	0	0	A	881615	G	A	881615	3	1	140	1	0	0	0	0	1	0	0	0	9503	1059	37	1	1588	1	MED16	19	881615	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08		881615	58247368	201	26499											
SBNO2	22904	broad.mit.edu	37	chr19	1122254	1122254	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcgaagaggacgccctCtgaggtagtggtgtcaccgt	7	8	17	9	3	2	2	1	1	1	1	2	4	2	3	2	5	0	1	2	5	2	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:1122254C>A	ENST00000361757.3	-	11	1270	c.1033G>T	c.(1033-1035)Gag>Tag	p.E345*	SBNO2_ENST00000587024.1_Nonsense_Mutation_p.E345*|SBNO2_ENST00000438103.2_Nonsense_Mutation_p.E288*	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	345					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		AGGACGCCCTCTGAGGTAGTG	0.647													3	10					0.00024832	0.000259117	1	0	A	1122254	C	A	1122254	4	1	140	1	0	0	0	0	0	1	0	0	13949	922	32	2	3155	2	SBNO2	19	1122254	Nonsense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	240639	1122254	58006729	202	26500											
CIRBP	1153	broad.mit.edu	37	chr19	1271983	1271983	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtttgtctgtcttgcagccgGagtcagagtggtggctacag	6	12	15	8	1	3	1	1	0	2	1	3	2	3	2	1	3	3	3	1	3	1	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:1271983G>A	ENST00000444172.2	+	5	410	c.276G>A	c.(274-276)cgG>cgA	p.R92R	CIRBP_ENST00000591935.1_Silent_p.R145R|CIRBP_ENST00000589660.1_Silent_p.R145R|CIRBP_ENST00000589686.1_Silent_p.R145R|CIRBP_ENST00000586472.1_Silent_p.R145R|CIRBP_ENST00000589710.1_Silent_p.R145R|CIRBP_ENST00000413636.2_Silent_p.R111R|CIRBP_ENST00000588090.1_Silent_p.R145R|CIRBP_ENST00000589235.1_Silent_p.R145R|CIRBP_ENST00000587323.1_Silent_p.R145R|CIRBP_ENST00000586773.1_Silent_p.R145R|CIRBP_ENST00000588230.1_Silent_p.R145R|CIRBP_ENST00000320936.5_Silent_p.R145R|CIRBP_ENST00000588030.1_Silent_p.R145R|CIRBP_ENST00000587896.1_Silent_p.R145R|CIRBP_ENST00000585630.1_Silent_p.R145R			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	145	Gly-rich.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		CTTGCAGCCGGAGTCAGAGTG	0.602													17	72					0	0	0	0	A	1271983	G	A	1271983	2	1	140	1	0	0	0	0	0	0	0	1	3462	1161	41	2		2	CIRBP	19	1271983	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	149729	1271983	57857000	203	26501											
EEF2	1938	broad.mit.edu	37	chr19	3983151	3983151	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatgcgccatcggtgactcgGagggcagcagtcacctccga	9	6	13	13	4	1	1	1	1	0	0	4	3	2	2	3	3	2	2	3	3	1	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:3983151G>C	ENST00000309311.6	-	3	445	c.357C>G	c.(355-357)ctC>ctG	p.L119L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	119						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTGACTCGGAGGGCAGCAG	0.617													7	57					0	0	0	0	C	3983151	G	C	3983151	2	2	140	1	0	0	0	0	0	0	0	1	4965	1161	41	2		2	EEF2	19	3983151	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	2711168	3983151	55145832	204	26502											
EEF2	1938	broad.mit.edu	37	chr19	3983263	3983263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagttcaagtcattctccGagagctcgtagaagagggag	12	9	13	7	2	3	4	2	1	1	3	5	6	3	5	1	1	1	3	1	1	4	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:3983263G>A	ENST00000309311.6	-	3	333	c.245C>T	c.(244-246)tCg>tTg	p.S82L	EEF2_ENST00000600720.1_5'UTR	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	82						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCATTCTCCGAGAGCTCGTA	0.587													4	18					0	0	0	0	A	3983263	G	A	3983263	3	1	140	1	0	0	0	0	1	0	0	0	4965	1059	37	1	2383	1	EEF2	19	3983263	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	112	3983263	55145720	205	26503											
MRPL4	51073	broad.mit.edu	37	chr19	10363274	10363274	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgagctcccggtacccactCatcgacgcccagtgcaggcc	7	6	10	18	4	1	0	1	0	0	0	4	2	2	0	4	2	3	3	4	2	1	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:10363274C>G	ENST00000393733.2	+	3	199	c.172C>G	c.(172-174)Cat>Gat	p.H58D	MRPL4_ENST00000588502.1_Missense_Mutation_p.H57D|MRPL4_ENST00000253099.6_Missense_Mutation_p.H58D|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000590669.1_Missense_Mutation_p.H58D|MRPL4_ENST00000307422.5_Missense_Mutation_p.H58D			Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	58					translation	mitochondrion|ribosome	structural constituent of ribosome	p.H58D(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GGTACCCACTCATCGACGCCC	0.677													7	65					0	0	0	0	G	10363274	C	G	10363274	3	3	140	1	0	0	0	0	1	0	0	0	9873	826	29	2	182	2	MRPL4	19	10363274	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	6380011	10363274	48765709	206	26504											
ZNF700	90592	broad.mit.edu	37	chr19	12059116	12059116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatagaagagaaagtcaatGaaattaaagaagacagtcat	21	8	8	4	0	3	5	3	1	0	4	3	6	3	5	0	0	0	0	0	0	8	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:12059116G>A	ENST00000482090.1	+	3	641	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Missense_Mutation_p.E93K|ZNF763_ENST00000590798.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	93	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GAAAGTCAATGAAATTAAAGA	0.358													19	128					0	0	0	0	A	12059116	G	A	12059116	3	1	140	1	0	0	0	0	1	0	0	0	18199	1291	45	2	291	2	ZNF700	19	12059116	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	1695842	12059116	47069867	207	26505											
NOTCH3	4854	broad.mit.edu	37	chr19	15302416	15302416	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagcaggtacccccattgtgGcaggcgttgggctgcagctg	7	8	15	11	1	0	0	0	0	0	0	0	0	0	0	2	4	4	7	2	4	2	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:15302416G>T	ENST00000263388.2	-	6	930	c.855C>A	c.(853-855)tgC>tgA	p.C285*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	285	EGF-like 7.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCATTGTGGCAGGCGTTGG	0.607													3	31					0.004672	0.00475454	1	0	T	15302416	G	T	15302416	4	4	140	1	0	0	0	0	0	1	0	0	10620	1195	42	4	6222	4	NOTCH3	19	15302416	Nonsense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	3243300	15302416	43826567	208	26506											
CPAMD8	27151	broad.mit.edu	37	chr19	17115116	17115116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaagacttgttgtacgCgtggccttgcatttcaacaa	11	13	8	9	2	2	1	2	0	0	1	2	1	2	1	1	1	3	3	1	1	5	6			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:17115116C>T	ENST00000443236.1	-	8	812	c.781G>A	c.(781-783)Gcg>Acg	p.A261T	CPAMD8_ENST00000388925.4_Missense_Mutation_p.A214T	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	214						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTGTTGTACGCGTGGCCTTGC	0.463													10	66					0	0	0	0	T	17115116	C	T	17115116	3	4	140	1	0	0	0	0	1	0	0	0	3825	768	27	1	5157	1	CPAMD8	19	17115116	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	1812700	17115116	42013867	209	26507											
ZNF99	7652	broad.mit.edu	37	chr19	22941701	22941701	+	Missense_Mutation	SNP	C	C	A																															cacatttgtagggtttctttCcagtatgaattatctgatgt																										TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:22941701C>A	ENST00000397104.3	-	5	736	c.737G>T	c.(736-738)gGa>gTa	p.G246V	ZNF99_ENST00000596209.1_Missense_Mutation_p.G337V					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGGTTTCTTTCCAGTATGAAT	0.373													4	52					1.23904e-05	1.33151e-05	1	0	A	22941701	C	A	22941701	3	1	140	1	0	0	0	0	1	0	0	0	18297	855	30	2	2387	2	ZNF99	19	22941701	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	5826585	22941701	36187282	210	26508	213	2									
ZNF99	7652	broad.mit.edu	37	chr19	22941702	22941702	+	Nonsense_Mutation	SNP	C	C	A																															acatttgtagggtttctttcCagtatgaattatctgatgtt																										TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:22941702C>A	ENST00000397104.3	-	5	735	c.736G>T	c.(736-738)Gga>Tga	p.G246*	ZNF99_ENST00000596209.1_Nonsense_Mutation_p.G337*					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTTTCTTTCCAGTATGAATT	0.373													4	54					1.23904e-05	1.33151e-05	1	0	A	22941702	C	A	22941702	4	1	140	1	0	0	0	0	0	1	0	0	18297	603	21	4	2388	4	ZNF99	19	22941702	Nonsense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	1	22941702	36187281	211	26509	213	2									
DMPK	1760	broad.mit.edu	37	chr19	46281393	46281393	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcactggctcaccgttccatCtgcccgcagcttgaggcaag	7	8	11	15	2	2	1	1	1	1	0	3	1	3	1	3	2	2	6	3	2	1	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:46281393C>G	ENST00000600757.1	-	5	1384	c.697G>C	c.(697-699)Gat>Cat	p.D233H	DMPK_ENST00000291270.4_Missense_Mutation_p.D223H|DMPK_ENST00000343373.4_Missense_Mutation_p.D233H|DMPK_ENST00000354227.5_Missense_Mutation_p.D223H|DMPK_ENST00000458663.2_Missense_Mutation_p.D223H|DMPK_ENST00000447742.2_Missense_Mutation_p.D223H			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	233	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		ACCGTTCCATCTGCCCGCAGC	0.617													4	12					0	0	0	0	G	46281393	C	G	46281393	3	3	140	1	0	0	0	0	1	0	0	0	4621	913	32	2	1269	2	DMPK	19	46281393	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	23339691	46281393	12847590	212	26510											
PNMAL1	55228	broad.mit.edu	37	chr19	46973192	46973192	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggagacagggcccaagctCaccttcttcttcttcctcat	8	12	7	14	0	5	1	2	0	3	1	6	2	6	1	3	2	1	1	3	2	2	5	rs149866283	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:46973192C>T	ENST00000313683.10	-	2	1406	c.1101G>A	c.(1099-1101)gtG>gtA	p.V367V	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	367										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GGCCCAAGCTCACCTTCTTCT	0.562													33	195					0	0	0	0	T	46973192	C	T	46973192	2	4	140	1	0	0	0	0	0	0	0	1	12229	813	29	2		2	PNMAL1	19	46973192	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	691799	46973192	12155791	213	26511											
ZNF808	388558	broad.mit.edu	37	chr19	53056494	53056494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttccaggaaattgagaaaGaaattcataacattgagttt	16	12	8	5	0	1	3	1	2	0	2	2	5	2	4	1	1	1	2	1	1	4	6			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:53056494G>C	ENST00000359798.4	+	5	505	c.325G>C	c.(325-327)Gaa>Caa	p.E109Q		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AATTGAGAAAGAAATTCATAA	0.398													33	220					0	0	0	0	C	53056494	G	C	53056494	3	2	140	1	0	0	0	0	1	0	0	0	18266	943	33	2	335	2	ZNF808	19	53056494	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	6083302	53056494	6072489	214	26512											
KIR3DL2	3812	broad.mit.edu	37	chr19	55378172	55378172	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcaccacagtcaggtcttGagggggttttctagggagac	9	9	15	8	0	3	2	1	1	2	1	3	4	3	2	1	4	1	2	1	4	1	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:55378172G>C	ENST00000326321.3	+	9	1387	c.1354G>C	c.(1354-1356)Gag>Cag	p.E452Q	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.E435Q|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E452Q	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	452					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GTCAGGTCTTGAGGGGGTTTT	0.522													31	194					0	0	0	0	C	55378172	G	C	55378172	3	2	140	1	0	0	0	0	1	0	0	0	8373	1291	45	2	1388	2	KIR3DL2	19	55378172	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	2321678	55378172	3750811	215	26513											
MCM8	84515	broad.mit.edu	37	chr20	5974999	5974999	+	Frame_Shift_Del	DEL	A	A	-																															atgaccagggttacctcttgAaaaaaggcccaaaagtttac																										TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr20:5974999delA	ENST00000378896.3	+	19	2862	c.2485delA	c.(2485-2487)aafs	p.K830fs	MCM8_ENST00000378883.1_Frame_Shift_Del_p.K783fs|MCM8_ENST00000265187.4_Frame_Shift_Del_p.K814fs|MCM8_ENST00000378886.2_Frame_Shift_Del_p.K870fs	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	830					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTACCTCTTGAAAAAAGGCCC	0.378													14	52	---	---	---	---					-	5974999	A	-	5974999	7	5	140	1	0	1	0	1	0	0	0	0	9462	247	9	0	2555	0	MCM8	20	5974999	Frame_Shift_Del	DEL	A	TCGA-CQ-5333-01A-01D-2394-08		5974999	57050521	216	26514											
SAMHD1	25939	broad.mit.edu	37	chr20	35559199	35559199	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagcaatctgaacacagaGaacatctcgttcacttatct	13	11	5	12	1	4	2	1	1	3	1	6	3	5	2	1	0	3	2	1	0	4	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr20:35559199G>C	ENST00000262878.4	-	5	788	c.589C>G	c.(589-591)Ctc>Gtc	p.L197V	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	197	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TGAACACAGAGAACATCTCGT	0.418													17	120					0	0	0	0	C	35559199	G	C	35559199	3	2	140	1	0	0	0	0	1	0	0	0	13913	942	33	2	1339	2	SAMHD1	20	35559199	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	29584200	35559199	27466321	217	26515											
CDH4	1002	broad.mit.edu	37	chr20	60508098	60508098	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgagagaaggagcgccacacGaagcagctgctcattgaccc	12	4	12	13	3	1	2	1	1	0	1	1	6	1	3	2	1	4	3	2	1	2	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr20:60508098G>A	ENST00000360469.5	+	14	2383	c.2295G>A	c.(2293-2295)acG>acA	p.T765T	CDH4_ENST00000543233.1_Silent_p.T691T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	765					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGCGCCACACGAAGCAGCTGC	0.642													6	52					0	0	0	0	A	60508098	G	A	60508098	2	1	140	1	0	0	0	0	0	0	0	1	3141	1045	37	1		1	CDH4	20	60508098	Silent	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	24948899	60508098	2517422	218	26516											
TPD52L2	7165	broad.mit.edu	37	chr20	62521284	62521284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgacaagcccctgtcggatCccgcacctttctaagcctgt	7	10	9	15	2	1	1	0	1	1	0	3	2	2	2	5	1	2	1	5	1	2	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr20:62521284C>T	ENST00000217121.5	+	9	748	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S	TPD52L2_ENST00000369927.4_Missense_Mutation_p.P160S|TPD52L2_ENST00000351424.4_Missense_Mutation_p.P206S|TPD52L2_ENST00000352482.4_Missense_Mutation_p.P217S|TPD52L2_ENST00000348257.5_Missense_Mutation_p.P183S|TPD52L2_ENST00000346249.4_Missense_Mutation_p.P203S|TPD52L2_ENST00000358548.4_Missense_Mutation_p.P197S	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	203					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CCTGTCGGATCCCGCACCTTT	0.592													6	42					0	0	0	0	T	62521284	C	T	62521284	3	4	140	1	0	0	0	0	1	0	0	0	16494	855	30	2	710	2	TPD52L2	20	62521284	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	2013186	62521284	504236	219	26517											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338337	28338337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcagtggctccggtggCgccagggcgcactcgtcccg	6	5	16	14	5	0	1	0	0	0	1	3	1	2	1	3	4	1	3	3	4	1	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:28338337C>T	ENST00000284987.5	-	1	495	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	125					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTCCGGTGGCGCCAGGGCGC	0.672													6	38					0	0	0	0	T	28338337	C	T	28338337	3	4	140	1	0	0	0	0	1	0	0	0	269	768	27	1	2450	1	ADAMTS5	21	28338337	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08		28338337	19791558	220	26518											
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744353	31744353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctggtgggctcccagCagatctcctgacagccccta	7	7	12	15	0	1	2	0	1	1	1	3	2	2	2	4	3	3	4	4	3	1	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:31744353C>A	ENST00000399889.2	-	1	204	c.179G>T	c.(178-180)tGc>tTc	p.C60F		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	60	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GGGCTCCCAGCAGATCTCCTG	0.607													12	87					3.07112e-06	3.37588e-06	1	0	A	31744353	C	A	31744353	3	1	140	1	0	0	0	0	1	0	0	0	8575	710	25	4	352	4	KRTAP13-2	21	31744353	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	3406016	31744353	16385542	221	26519											
DYRK1A	1859	broad.mit.edu	37	chr21	38884218	38884218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgttctttcaggtgcGtcagcaatttcctgctcctc	7	15	7	12	1	4	0	2	0	2	0	7	0	6	0	2	1	3	3	2	1	2	3	rs144190333	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:38884218G>A	ENST00000339659.3	+	11	3119	c.1649G>A	c.(1648-1650)cGt>cAt	p.R550H	DYRK1A_ENST00000398956.2_Silent_p.A517A|DYRK1A_ENST00000455387.2_Missense_Mutation_p.R331H|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.R559H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	559					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TTTCAGGTGCGTCAGCAATTT	0.413													10	46					0	0	0	0	A	38884218	G	A	38884218	3	1	140	1	0	0	0	0	1	0	0	0	4890	1145	40	1	1802	1	DYRK1A	21	38884218	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	7139865	38884218	9245677	222	26520											
NDUFV3	4731	broad.mit.edu	37	chr21	44317044	44317044	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttttgtcagactatgcTccaggaagcccaggtgtttc	8	14	9	10	0	2	1	1	0	1	1	4	2	3	2	2	2	2	2	2	2	2	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:44317044T>A	ENST00000354250.2	+	2	125	c.56T>A	c.(55-57)cTc>cAc	p.L19H	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Missense_Mutation_p.L19H	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	19					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	CAGACTATGCTCCAGGAAGCC	0.373													16	94					0	0	0	0	A	44317044	T	A	44317044	3	1	140	1	0	0	0	0	1	0	0	0	10371	1551	54	5	62	5	NDUFV3	21	44317044	Missense_Mutation	SNP	T	TCGA-CQ-5333-01A-01D-2394-08	5432826	44317044	3812851	223	26521											
COL6A1	1291	broad.mit.edu	37	chr21	47422559	47422559	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccggcctctcgctggtcaAggagaactatgcagagctgc	8	7	13	13	2	2	2	1	0	1	2	3	3	2	2	2	3	4	3	2	3	3	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:47422559A>G	ENST00000361866.3	+	33	2483	c.2369A>G	c.(2368-2370)aAg>aGg	p.K790R	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	790	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TCGCTGGTCAAGGAGAACTAT	0.592													18	76					0	0	0	0	G	47422559	A	G	47422559	3	3	140	1	0	0	0	0	1	0	0	0	3729	72	3	5	2499	5	COL6A1	21	47422559	Missense_Mutation	SNP	A	TCGA-CQ-5333-01A-01D-2394-08	3105515	47422559	707336	224	26522											
CECR2	27443	broad.mit.edu	37	chr22	18022239	18022239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggaccctctcaccagcctCgcactctcggtcacgtgatg	7	8	9	17	3	3	1	2	1	2	0	6	2	3	2	3	2	1	1	3	2	0	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:18022239C>T	ENST00000262608.8	+	15	2344	c.2344C>T	c.(2344-2346)Cgc>Tgc	p.R782C	CECR2_ENST00000400573.4_Missense_Mutation_p.R781C|CECR2_ENST00000400585.2_Missense_Mutation_p.R640C	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	823					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCACCAGCCTCGCACTCTCGG	0.592													9	47					0	0	0	0	T	18022239	C	T	18022239	3	4	140	1	0	0	0	0	1	0	0	0	3235	884	31	1	2401	1	CECR2	22	18022239	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08		18022239	33282327	225	26523											
CLTCL1	8218	broad.mit.edu	37	chr22	19196585	19196585	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgcatctctccgcaaactCatatgcccggtccaggtttc	8	12	7	14	2	2	0	1	0	1	0	6	0	4	0	3	2	3	3	3	2	2	3			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:19196585C>G	ENST00000263200.10	-	21	3361	c.3289G>C	c.(3289-3291)Gag>Cag	p.E1097Q	CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1097Q|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1097Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1097	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCCGCAAACTCATATGCCCGG	0.502			T	?	ALCL								3	11					0	0	0	0	G	19196585	C	G	19196585	3	3	140	1	0	0	0	0	1	0	0	0	3597	835	29	2	1681	2	CLTCL1	22	19196585	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	1174346	19196585	32107981	226	26524											
SGSM1	129049	broad.mit.edu	37	chr22	25264420	25264420	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcttccccaagggcgggCacctcctgcagttcctctcg	4	9	10	18	3	1	0	0	0	1	0	6	0	5	0	6	2	1	4	6	2	1	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:25264420C>A	ENST00000400358.4	+	11	1129	c.1072C>A	c.(1072-1074)Cac>Aac	p.H358N	SGSM1_ENST00000400359.4_Missense_Mutation_p.H358N	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	358						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAAGGGCGGGCACCTCCTGCA	0.647													13	62					9.05144e-12	1.02631e-11	1	0	A	25264420	C	A	25264420	3	1	140	1	0	0	0	0	1	0	0	0	14309	710	25	4	1114	4	SGSM1	22	25264420	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	6067835	25264420	26040146	227	26525											
TBC1D10A	83874	broad.mit.edu	37	chr22	30690932	30690932	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggggcctggtggtacctCagcaggcatatgcatgagca	8	7	14	12	1	1	1	1	1	0	0	1	1	1	1	3	5	4	5	3	5	2	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:30690932C>A	ENST00000215790.7	-	5	801	c.637G>T	c.(637-639)Gag>Tag	p.E213*	RP1-130H16.18_ENST00000447976.1_Nonsense_Mutation_p.E87*|TBC1D10A_ENST00000403362.1_Nonsense_Mutation_p.E125*|TBC1D10A_ENST00000403477.3_Nonsense_Mutation_p.E220*	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	213	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGTGGTACCTCAGCAGGCATA	0.657													14	67					1.3612e-06	1.50779e-06	1	0	A	30690932	C	A	30690932	4	1	140	1	0	0	0	0	0	1	0	0	15689	835	29	2	909	2	TBC1D10A	22	30690932	Nonsense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	5426512	30690932	20613634	228	26526											
PES1	23481	broad.mit.edu	37	chr22	30975207	30975207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcctctgcatcttcctcctCctcctcattttctccctctt	3	17	2	19	0	5	0	1	0	4	0	10	0	9	0	6	0	2	1	6	0	0	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:30975207C>T	ENST00000402281.1	-	15	2012	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	PES1_ENST00000405677.1_Missense_Mutation_p.E341K|PES1_ENST00000402284.3_Missense_Mutation_p.E463K|PES1_ENST00000354694.6_Missense_Mutation_p.E480K|PES1_ENST00000335214.6_Missense_Mutation_p.E475K			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	480	BRCT.|Sufficient for interaction with MAP1B (By similarity).				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						tcttcctcctcctcctcattt	0.537													8	31					0	0	0	0	T	30975207	C	T	30975207	3	4	140	1	0	0	0	0	1	0	0	0	11804	864	30	2	340	2	PES1	22	30975207	Missense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	284275	30975207	20329359	229	26527											
ARFGAP3	26286	broad.mit.edu	37	chr22	43195057	43195057	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactgacctgaattgaagtCacgactccattagcaaagac	14	8	7	12	1	1	4	1	3	0	1	2	5	2	4	3	0	1	1	3	0	4	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:43195057C>T	ENST00000263245.5	-	15	1740	c.1521G>A	c.(1519-1521)gtG>gtA	p.V507V	ARFGAP3_ENST00000429508.2_Silent_p.V435V|ARFGAP3_ENST00000437119.2_Silent_p.V463V	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	507					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						GAATTGAAGTCACGACTCCAT	0.527													32	199					0	0	0	0	T	43195057	C	T	43195057	2	4	140	1	0	0	0	0	0	0	0	1	853	813	29	2		2	ARFGAP3	22	43195057	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	12219850	43195057	8109509	230	26528											
FAM118A	55007	broad.mit.edu	37	chr22	45728404	45728404	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccctctttctttactcCgtgccgaataaggtggattt	7	14	9	11	2	2	0	0	0	2	0	3	2	3	1	3	3	2	0	3	3	3	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:45728404C>T	ENST00000216214.3	+	7	1584	c.750C>T	c.(748-750)tcC>tcT	p.S250S	FAM118A_ENST00000441876.2_Silent_p.S250S|FAM118A_ENST00000405548.3_Silent_p.S68S	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	250						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TTCTTTACTCCGTGCCGAATA	0.478													26	121					0	0	0	0	T	45728404	C	T	45728404	2	4	140	1	0	0	0	0	0	0	0	1	5452	639	23	1		1	FAM118A	22	45728404	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	2533347	45728404	5576162	231	26529											
BRD1	23774	broad.mit.edu	37	chr22	50191666	50191666	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tataatgagatcaaaatcctCctcaaactcatggaggtttt	14	13	6	8	0	3	1	3	1	0	1	5	3	5	2	2	2	1	1	2	2	5	4			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:50191666C>A	ENST00000216267.8	-	5	2371	c.1885G>T	c.(1885-1887)Gag>Tag	p.E629*	BRD1_ENST00000342989.5_Nonsense_Mutation_p.E224*|BRD1_ENST00000542442.1_Nonsense_Mutation_p.E317*|BRD1_ENST00000404760.1_Nonsense_Mutation_p.E629*|BRD1_ENST00000457780.2_Nonsense_Mutation_p.E629*|BRD1_ENST00000404034.1_Nonsense_Mutation_p.E629*	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	629	Bromo.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCAAAATCCTCCTCAAACTCA	0.453													16	81					6.31663e-08	7.02389e-08	1	0	A	50191666	C	A	50191666	4	1	140	1	0	0	0	0	0	1	0	0	1509	864	30	2	1323	2	BRD1	22	50191666	Nonsense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	4463262	50191666	1112900	232	26530											
NR0B1	190	broad.mit.edu	37	chrX	30326446	30326446	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcctggcctccgccggCggtgccaaatggtgctgcag	5	8	13	15	3	0	0	0	0	0	0	2	0	2	0	6	4	3	2	6	4	1	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:30326446C>A	ENST00000378970.4	-	1	1269	c.1035G>T	c.(1033-1035)ccG>ccT	p.P345P	NR0B1_ENST00000378963.1_Silent_p.P50P|NR0B1_ENST00000453287.1_Silent_p.P345P	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	345	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCTCCGCCGGCGGTGCCAAAT	0.637											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	16					0.000978159	0.00100611	1	0	A	30326446	C	A	30326446	2	1	140	1	0	0	0	0	0	0	0	1	10684	755	27	3		3	NR0B1	23	30326446	Silent	SNP	C	TCGA-CQ-5333-01A-01D-2394-08		30326446	124944114	233	26531											
EFNB1	1947	broad.mit.edu	37	chrX	68058576	68058576	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacaagctgtacctggtgcGgcctgagcaggcagctgcct	7	8	13	13	1	0	1	0	1	0	0	0	1	0	1	3	3	7	5	3	3	3	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:68058576G>C	ENST00000204961.4	+	2	1025	c.245G>C	c.(244-246)cGg>cCg	p.R82P		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	82					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						TACCTGGTGCGGCCTGAGCAG	0.552													3	12					0	0	0	0	C	68058576	G	C	68058576	3	2	140	1	0	0	0	0	1	0	0	0	4991	1116	39	3	251	3	EFNB1	23	68058576	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	37732130	68058576	87211984	234	26532											
ZDHHC15	158866	broad.mit.edu	37	chrX	74670646	74670646	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaactgacctccacttcCagttcttgtgtaaaccggta	10	12	8	11	1	1	2	0	2	1	0	3	3	3	2	4	1	2	3	4	1	4	5			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:74670646C>A	ENST00000541184.1	-	3	820	c.343G>T	c.(343-345)Gga>Tga	p.G115*	ZDHHC15_ENST00000373361.3_Nonsense_Mutation_p.G124*|ZDHHC15_ENST00000373367.3_Nonsense_Mutation_p.G124*	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	124						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CCTCCACTTCCAGTTCTTGTG	0.438													14	53					6.49762e-13	7.42585e-13	1	0	A	74670646	C	A	74670646	4	1	140	1	0	0	0	0	0	1	0	0	17700	603	21	4	755	4	ZDHHC15	23	74670646	Nonsense_Mutation	SNP	C	TCGA-CQ-5333-01A-01D-2394-08	6612070	74670646	80599914	235	26533											
TRMT2B	79979	broad.mit.edu	37	chrX	100275562	100275562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagatgtatgctgagccagaGagaggccaatcacacctgaa	14	6	12	9	0	1	5	1	2	0	3	1	7	1	5	3	1	2	2	3	1	3	1			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:100275562G>A	ENST00000338687.7	-	10	1752	c.947C>T	c.(946-948)tCt>tTt	p.S316F	TRMT2B_ENST00000545398.1_Missense_Mutation_p.S361F|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S361F|TRMT2B_ENST00000372936.3_Missense_Mutation_p.S361F|TRMT2B_ENST00000372939.1_Missense_Mutation_p.S316F|TRMT2B_ENST00000372935.1_Missense_Mutation_p.S361F			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	361							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CTGAGCCAGAGAGAGGCCAAT	0.438													22	42					0	0	0	0	A	100275562	G	A	100275562	3	1	140	1	0	0	0	0	1	0	0	0	16661	942	33	2	448	2	TRMT2B	23	100275562	Missense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	25604916	100275562	54994998	236	26534											
NKRF	55922	broad.mit.edu	37	chrX	118724262	118724262	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaacactcgacaacgccAtgtgcgatttggcatcatct	13	10	7	11	3	2	0	1	0	1	0	3	2	2	0	1	1	3	1	1	1	4	2			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:118724262A>C	ENST00000371527.1	-	2	1778	c.1126T>G	c.(1126-1128)Tgg>Ggg	p.W376G	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.W391G|NKRF_ENST00000304449.5_Missense_Mutation_p.W376G	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	376					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CGACAACGCCATGTGCGATTT	0.383													27	63					0	0	0	0	C	118724262	A	C	118724262	3	2	140	1	0	0	0	0	1	0	0	0	10517	217	8	5	950	5	NKRF	23	118724262	Missense_Mutation	SNP	A	TCGA-CQ-5333-01A-01D-2394-08	18448700	118724262	36546298	237	26535											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685553	125685553	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgcctgtgccaccctctcGagaacacaggggccggatgt	8	6	12	15	3	1	1	0	0	1	1	2	3	1	2	4	3	2	0	4	3	1	0			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:125685553G>A	ENST00000371126.1	-	1	1281	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	347										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCACCCTCTCGAGAACACAGG	0.612													14	37					0	0	0	0	A	125685553	G	A	125685553	4	1	140	1	0	0	0	0	0	1	0	0	4297	1066	37	1	356	1	DCAF12L1	23	125685553	Nonsense_Mutation	SNP	G	TCGA-CQ-5333-01A-01D-2394-08	6961291	125685553	29585007	238	26536											
CLCNKA	1187	broad.mit.edu	37	chr1	16359745	16359745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgtgggctgcgtgtcctgGgtggaggtaccagggtcccg	3	9	19	10	2	0	0	0	0	0	0	2	1	2	1	3	5	2	3	3	5	1	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:16359745G>C	ENST00000375692.1	+	20	2135	c.2007G>C	c.(2005-2007)tgG>tgC	p.W669C	CLCNKA_ENST00000439316.2_Missense_Mutation_p.W627C|CLCNKA_ENST00000420078.1_Missense_Mutation_p.W669C|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.W670C			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	670	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCGTGTCCTGGGTGGAGGTAC	0.617											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	136					0	0	0	0	C	16359745	G	C	16359745	3	2	141	1	0	0	0	0	1	0	0	0	3499	1241	43	4	2080	4	CLCNKA	1	16359745	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08		16359745	232890876	1	26537											
EPHA2	1969	broad.mit.edu	37	chr1	16464347	16464347	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgccacccctggacctcaCctgtctggttgatgctgaca	6	10	10	15	0	2	2	1	2	1	0	2	3	2	3	5	2	2	3	5	2	0	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:16464347C>A	ENST00000358432.5	-	5	1467		c.e5+1			NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2						activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTGGACCTCACCTGTCTGGTT	0.622													25	35					0.00106085	0.00110599	1	0	A	16464347	C	A	16464347	5	1	141	1	0	0	0	0	0	0	1	0	5205	521	18	4	1669	4	EPHA2	1	16464347	Splice_Site	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	104602	16464347	232786274	2	26538											
PADI4	23569	broad.mit.edu	37	chr1	17674531	17674531	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctgaaggagtttcccatCaaacgcgtgatggtacctgc	9	9	12	11	2	1	2	1	2	0	0	2	3	2	3	3	3	3	2	3	3	3	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:17674531C>G	ENST00000375448.4	+	10	1169	c.1143C>G	c.(1141-1143)atC>atG	p.I381M	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	381					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGTTTCCCATCAAACGCGTGA	0.587													7	23					0	0	0	0	G	17674531	C	G	17674531	3	3	141	1	0	0	0	0	1	0	0	0	11451	816	29	2	1181	2	PADI4	1	17674531	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	1210184	17674531	231576090	3	26539											
HMGN2	3151	broad.mit.edu	37	chr1	26801616	26801616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttttaggcacagaaagctGaaggtgctggagatgccaag	12	9	13	7	0	1	3	0	1	1	2	1	4	1	3	1	3	3	3	1	3	4	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:26801616G>A	ENST00000361427.5	+	6	344	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	84					chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ACAGAAAGCTGAAGGTGCTGG	0.368													14	66					0	0	0	0	A	26801616	G	A	26801616	3	1	141	1	0	0	0	0	1	0	0	0	7285	1291	45	2	272	2	HMGN2	1	26801616	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	9127085	26801616	222449005	4	26540											
CSMD2	114784	broad.mit.edu	37	chr1	34003072	34003072	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgccactccatgtcccatCtgactggcaaaacctgcgtg	8	9	10	14	1	1	1	0	1	1	0	3	1	3	1	4	2	3	1	4	2	2	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:34003072C>G	ENST00000373381.4	-	61	9945	c.9769G>C	c.(9769-9771)Gat>Cat	p.D3257H		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3235						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATGTCCCATCTGACTGGCAA	0.607													15	110					0	0	0	0	G	34003072	C	G	34003072	3	3	141	1	0	0	0	0	1	0	0	0	3977	913	32	2	1166	2	CSMD2	1	34003072	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	7201456	34003072	215247549	5	26541											
EPHA10	284656	broad.mit.edu	37	chr1	38227248	38227248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgtggagaaggcgctctCggctgcggtggctgggaacg	6	7	19	9	4	1	1	0	0	1	1	2	3	1	2	0	6	2	3	0	6	2	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:38227248C>T	ENST00000373048.4	-	3	678	c.679G>A	c.(679-681)Gag>Aag	p.E227K	EPHA10_ENST00000427468.2_Missense_Mutation_p.E227K|EPHA10_ENST00000319637.6_Missense_Mutation_p.E227K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	227						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)				AAGGCGCTCTCGGCTGCGGTG	0.716													9	10					0	0	0	0	T	38227248	C	T	38227248	3	4	141	1	0	0	0	0	1	0	0	0	5204	893	31	1	2445	1	EPHA10	1	38227248	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	4224176	38227248	211023373	6	26542											
TMEM59	9528	broad.mit.edu	37	chr1	54513022	54513022	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaacagcctgcaacctctCtgacatgcgtacaactcctc	12	8	6	15	1	1	1	0	1	1	0	4	2	2	1	3	0	7	2	3	0	5	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:54513022C>G	ENST00000234831.5	-	2	462	c.213G>C	c.(211-213)caG>caC	p.Q71H	TMEM59_ENST00000371341.1_5'UTR|TMEM59_ENST00000371337.3_Missense_Mutation_p.Q71H|TMEM59_ENST00000371348.1_5'UTR	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	71						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGCAACCTCTCTGACATGCGT	0.388													11	54					0	0	0	0	G	54513022	C	G	54513022	3	3	141	1	0	0	0	0	1	0	0	0	16279	912	32	2	786	2	TMEM59	1	54513022	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	16285774	54513022	194737599	7	26543											
EFCAB7	84455	broad.mit.edu	37	chr1	64034060	64034060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatatggaggcatgtagtgGacaacttgagaaggccattt	12	10	12	7	0	0	1	0	1	0	1	0	4	0	3	2	4	1	2	2	4	4	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:64034060G>T	ENST00000371088.4	+	12	1823	c.1577G>T	c.(1576-1578)gGa>gTa	p.G526V	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	526							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GCATGTAGTGGACAACTTGAG	0.368													11	31					6.42651e-13	7.35746e-13	1	0	T	64034060	G	T	64034060	3	4	141	1	0	0	0	0	1	0	0	0	4976	1174	41	2	1619	2	EFCAB7	1	64034060	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	9521038	64034060	185216561	8	26544											
DIRAS3	9077	broad.mit.edu	37	chr1	68512777	68512777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtaggtattttcaatggtCggcaggtactcatgacggaa	11	11	12	7	2	2	1	2	1	0	0	3	2	2	2	0	5	1	4	0	5	5	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:68512777C>T	ENST00000370981.1	-	4	840	c.204G>A	c.(202-204)ccG>ccA	p.P68P	DIRAS3_ENST00000395201.1_Silent_p.P68P|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	68					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTCAATGGTCGGCAGGTACT	0.597													25	73					0	0	0	0	T	68512777	C	T	68512777	2	4	141	1	0	0	0	0	0	0	0	1	4569	871	31	1		1	DIRAS3	1	68512777	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	4478717	68512777	180737844	9	26545											
DEPDC1	55635	broad.mit.edu	37	chr1	68948554	68948554	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtatcccactggatctatCtgaaactgtgatgtagccac	11	12	8	10	0	2	2	0	2	2	0	3	3	3	3	2	1	2	2	2	1	4	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:68948554C>G	ENST00000456315.2	-	8	1051	c.937G>C	c.(937-939)Gat>Cat	p.D313H	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	313	Rho-GAP.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CTGGATCTATCTGAAACTGTG	0.328													13	66					0	0	0	0	G	68948554	C	G	68948554	3	3	141	1	0	0	0	0	1	0	0	0	4476	913	32	2	1518	2	DEPDC1	1	68948554	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	435777	68948554	180302067	10	26546											
AGL	178	broad.mit.edu	37	chr1	100387120	100387120	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggacttccagaactgacCaatgagaatgcccagtactg	15	7	9	10	0	0	3	0	2	0	2	1	5	1	4	3	1	3	1	3	1	5	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:100387120C>A	ENST00000294724.4	+	34	4990	c.4512C>A	c.(4510-4512)acC>acA	p.T1504T	AGL_ENST00000370163.3_Silent_p.T1504T|AGL_ENST00000361522.4_Silent_p.T1487T|AGL_ENST00000361915.3_Silent_p.T1504T|AGL_ENST00000361302.3_Silent_p.T1488T|AGL_ENST00000370165.3_Silent_p.T1504T|AGL_ENST00000370161.2_Silent_p.T1488T	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1504					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CAGAACTGACCAATGAGAATG	0.353													3	56					0.00909568	0.00932402	1	0	A	100387120	C	A	100387120	2	1	141	1	0	0	0	0	0	0	0	1	384	581	21	4		4	AGL	1	100387120	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	31438566	100387120	148863501	11	26547											
PHGDH	26227	broad.mit.edu	37	chr1	120283058	120283058	+	Nonsense_Mutation	SNP	G	G	A																															ctctccacacaccaagccttGgattggtctggcagaagctc																										TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:120283058G>A	ENST00000369407.3	+	8	2400	c.893G>A	c.(892-894)tGg>tAg	p.W298*	PHGDH_ENST00000369409.4_Nonsense_Mutation_p.W332*|PHGDH_ENST00000482968.1_3'UTR			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	332					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	ACCAAGCCTTGGATTGGTCTG	0.607													8	7					0	0	0	0	A	120283058	G	A	120283058	4	1	141	1	0	0	0	0	0	1	0	0	11913	1357	47	4	1029	4	PHGDH	1	120283058	Nonsense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	19895938	120283058	128967563	12	26548	214	2									
PHGDH	26227	broad.mit.edu	37	chr1	120283059	120283059	+	Nonsense_Mutation	SNP	G	G	A																															tctccacacaccaagccttgGattggtctggcagaagctct																										TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:120283059G>A	ENST00000369407.3	+	8	2401	c.894G>A	c.(892-894)tgG>tgA	p.W298*	PHGDH_ENST00000369409.4_Nonsense_Mutation_p.W332*|PHGDH_ENST00000482968.1_3'UTR			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	332					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCAAGCCTTGGATTGGTCTGG	0.607													8	7					0	0	0	0	A	120283059	G	A	120283059	4	1	141	1	0	0	0	0	0	1	0	0	11913	1183	41	2	1030	2	PHGDH	1	120283059	Nonsense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	1	120283059	128967562	13	26549	214	2									
BCL9	607	broad.mit.edu	37	chr1	147091006	147091006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacactgggagagaatcccGatggcctatctcaggagcag	11	6	12	12	1	1	1	1	0	1	1	3	5	2	3	3	3	1	1	3	3	2	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:147091006G>A	ENST00000234739.3	+	8	1785	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	349	CTNNB1-binding.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGAGAATCCCGATGGCCTATC	0.577			T	"IGH@, IGL@"	B-ALL								15	76					0	0	0	0	A	147091006	G	A	147091006	3	1	141	1	0	0	0	0	1	0	0	0	1385	1058	37	1	1063	1	BCL9	1	147091006	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	26807947	147091006	102159615	14	26550											
THEM4	117145	broad.mit.edu	37	chr1	151861698	151861699	+	Frame_Shift_Ins	INS	-	-	C																															atcattcttacccaggtggtINSccttccaggtaagggcctcc																										TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:151861698_151861699insC	ENST00000368814.3	-	3	786_787	c.437_438insG	c.(436-438)gccfs	p.A146fs	THEM4_ENST00000477437.1_5'UTR	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	146					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane				endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCAGGTGGTCCTTCCAGGTA	0.416													18	66	---	---	---	---					C	151861699	-	C	151861698	7	5	141	1	0	1	1	0	0	0	0	0	15952	1654	58	0	300	0	THEM4	1	151861698	Frame_Shift_Ins	INS	-	TCGA-CQ-5334-01A-01D-1683-08	4770692	151861698	97388923	15	26551											
SPRR2B	6701	broad.mit.edu	37	chr1	153043109	153043109	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagctgttacttgctcttCggtggatactttggctggca	6	15	12	8	1	1	1	0	1	1	0	2	2	1	2	0	4	4	5	0	4	3	5	rs143849195	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:153043109C>T	ENST00000341611.2	-	2	269	c.207G>A	c.(205-207)ccG>ccA	p.P69P	SPRR2B_ENST00000368755.2_Silent_p.P69P|SPRR2B_ENST00000368752.4_Silent_p.P69P	NM_001017418.1	NP_001017418.1	P35325	SPR2B_HUMAN	small proline-rich protein 2B	69					keratinization	cornified envelope|cytoplasm				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTGCTCTTCGGTGGATACT	0.532													22	114					0	0	0	0	T	153043109	C	T	153043109	2	4	141	1	0	0	0	0	0	0	0	1	15188	871	31	1		1	SPRR2B	1	153043109	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	1181411	153043109	96207512	16	26552											
S100A3	6274	broad.mit.edu	37	chr1	153520180	153520180	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgggagcaggggggctctGaggggcagtccttgaagtac	8	7	18	8	0	1	2	0	2	1	0	2	3	2	3	1	6	2	4	1	6	2	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:153520180G>C	ENST00000368713.3	-	3	480	c.284C>G	c.(283-285)tCa>tGa	p.S95*	S100A3_ENST00000368712.1_Nonsense_Mutation_p.S95*|S100A4_ENST00000368714.1_Intron	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	95							calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGGGGCTCTGAGGGGCAGTC	0.627													20	84					0	0	0	0	C	153520180	G	C	153520180	4	2	141	1	0	0	0	0	0	1	0	0	13864	1294	45	2	25	2	S100A3	1	153520180	Nonsense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	477071	153520180	95730441	17	26553											
S100A3	6274	broad.mit.edu	37	chr1	153520231	153520231	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagacagaggcaggcaagtGagcgcacatactccacaaag	16	3	12	10	1	0	3	0	1	0	2	1	4	1	3	1	2	2	3	1	2	3	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:153520231G>C	ENST00000368713.3	-	3	429	c.233C>G	c.(232-234)tCa>tGa	p.S78*	S100A3_ENST00000368712.1_Nonsense_Mutation_p.S78*|S100A4_ENST00000368714.1_Intron	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	78	EF-hand 2.						calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGGCAAGTGAGCGCACATA	0.562													23	102					0	0	0	0	C	153520231	G	C	153520231	4	2	141	1	0	0	0	0	0	1	0	0	13864	1294	45	2	76	2	S100A3	1	153520231	Nonsense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	51	153520231	95730390	18	26554											
CD1E	913	broad.mit.edu	37	chr1	158325689	158325689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcttgtgtgccatgtctCaggattctacccaaagcccg	8	10	10	13	1	2	0	1	0	2	0	3	1	2	1	3	1	4	2	3	1	2	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:158325689C>T	ENST00000444681.2	+	3	694	c.401C>T	c.(400-402)tCa>tTa	p.S134L	CD1E_ENST00000368155.3_Missense_Mutation_p.S143L|CD1E_ENST00000368154.1_Missense_Mutation_p.S44L|CD1E_ENST00000368156.1_Missense_Mutation_p.S143L|CD1E_ENST00000452291.2_Missense_Mutation_p.S44L|CD1E_ENST00000368161.3_Missense_Mutation_p.S233L|CD1E_ENST00000368166.3_Missense_Mutation_p.S44L|CD1E_ENST00000368157.1_Missense_Mutation_p.S44L|CD1E_ENST00000434258.1_Missense_Mutation_p.S231L|CD1E_ENST00000368164.3_Missense_Mutation_p.S44L|CD1E_ENST00000368163.3_Missense_Mutation_p.S233L|CD1E_ENST00000368160.3_Missense_Mutation_p.S233L|CD1E_ENST00000368165.3_Missense_Mutation_p.S143L|CD1E_ENST00000368167.3_Missense_Mutation_p.S233L	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	233					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGCCATGTCTCAGGATTCTAC	0.587													7	55					0	0	0	0	T	158325689	C	T	158325689	3	4	141	1	0	0	0	0	1	0	0	0	3007	838	29	2	712	2	CD1E	1	158325689	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	4805458	158325689	90924932	19	26555											
IGSF8	93185	broad.mit.edu	37	chr1	160063016	160063016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagagtatgcagcatgaCggcctgctgggggaagtgcc	9	7	15	10	1	0	2	0	1	0	1	0	3	0	3	2	3	5	4	2	3	3	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:160063016C>T	ENST00000368086.1	-	4	1226	c.1010G>A	c.(1009-1011)cGt>cAt	p.R337H	IGSF8_ENST00000314485.7_Missense_Mutation_p.R337H			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	337	Ig-like C2-type 3.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGCAGCATGACGGCCTGCTGG	0.667													8	25					0	0	0	0	T	160063016	C	T	160063016	3	4	141	1	0	0	0	0	1	0	0	0	7657	536	19	1	843	1	IGSF8	1	160063016	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	1737327	160063016	89187605	20	26556											
VANGL2	57216	broad.mit.edu	37	chr1	160389273	160389273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccgtgtcgctggtggacgCccttcttttcgtgcactacc	3	12	11	15	5	1	0	0	0	1	0	3	1	1	1	3	2	2	2	3	2	1	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:160389273C>A	ENST00000368061.2	+	4	1148	c.674C>A	c.(673-675)gCc>gAc	p.A225D		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	225					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGTGGACGCCCTTCTTTTC	0.652													17	67					4.96729e-08	5.38489e-08	1	0	A	160389273	C	A	160389273	3	1	141	1	0	0	0	0	1	0	0	0	17216	739	26	4	684	4	VANGL2	1	160389273	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	326257	160389273	88861348	21	26557											
LY9	4063	broad.mit.edu	37	chr1	160793987	160793987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagggaaagaccccagtttCtcagaaggaagagagctcag	15	5	12	9	0	2	3	2	0	1	3	3	6	2	5	2	2	1	2	2	2	3	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:160793987C>G	ENST00000263285.5	+	9	1877	c.1847C>G	c.(1846-1848)tCt>tGt	p.S616C	LY9_ENST00000341032.4_Missense_Mutation_p.S482C|LY9_ENST00000368035.1_Intron|LY9_ENST00000368041.2_Missense_Mutation_p.S486C|LY9_ENST00000368040.1_Intron	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	616					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACCCCAGTTTCTCAGAAGGAA	0.498													33	100					0	0	0	0	G	160793987	C	G	160793987	3	3	141	1	0	0	0	0	1	0	0	0	9166	913	32	2	2013	2	LY9	1	160793987	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	404714	160793987	88456634	22	26558											
LAMC1	3915	broad.mit.edu	37	chr1	183086470	183086470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatgaggatgggtggcGtgcggaacagagagatggct	10	7	19	5	2	0	4	0	1	0	3	0	7	0	6	0	5	3	2	0	5	1	0	rs148393996	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:183086470G>A	ENST00000258341.4	+	9	1837	c.1580G>A	c.(1579-1581)cGt>cAt	p.R527H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	527	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATGGGTGGCGTGCGGAACAG	0.463													3	27					0	0	0	0	A	183086470	G	A	183086470	3	1	141	1	0	0	0	0	1	0	0	0	8667	1145	40	1	1614	1	LAMC1	1	183086470	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	22292483	183086470	66164151	23	26559											
CENPF	1063	broad.mit.edu	37	chr1	214818774	214818774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccttgaagaagaactctCagtggtcacaagtgagagaa	14	8	11	8	0	2	5	2	2	1	3	3	6	2	5	1	1	2	0	1	1	5	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:214818774C>T	ENST00000366955.3	+	13	6029	c.5861C>T	c.(5860-5862)tCa>tTa	p.S1954L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2050					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.S1954L(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAGAACTCTCAGTGGTCACA	0.393													13	51					0	0	0	0	T	214818774	C	T	214818774	3	4	141	1	0	0	0	0	1	0	0	0	3260	838	29	2	5907	2	CENPF	1	214818774	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	31732304	214818774	34431847	24	26560											
OR2L13	284521	broad.mit.edu	37	chr1	248263205	248263205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagggctattgaccatttCttctgcgatgtcccagccat	7	14	8	12	1	3	1	0	1	3	0	4	2	4	1	3	1	2	1	3	1	2	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:248263205C>A	ENST00000366478.2	+	3	865	c.528C>A	c.(526-528)ttC>ttA	p.F176L	OR2L13_ENST00000358120.2_Missense_Mutation_p.F176L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TTGACCATTTCTTCTGCGATG	0.463													26	135					4.7796e-09	5.29866e-09	1	0	A	248263205	C	A	248263205	3	1	141	1	0	0	0	0	1	0	0	0	11077	912	32	2	530	2	OR2L13	1	248263205	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	33444431	248263205	987416	25	26561											
HADHB	3032	broad.mit.edu	37	chr2	26502944	26502944	+	Missense_Mutation	SNP	G	G	T																															ctaaaacctgcattcatcaaGccctacggcacagtgacagc																										TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:26502944G>T	ENST00000317799.5	+	10	998	c.894G>T	c.(892-894)aaG>aaT	p.K298N	HADHB_ENST00000537713.1_Missense_Mutation_p.K283N|HADHB_ENST00000545822.1_Missense_Mutation_p.K276N|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.K175N	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	298					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTCATCAAGCCCTACGGCA	0.373													18	82					7.41877e-09	8.15067e-09	1	0	T	26502944	G	T	26502944	3	4	141	1	0	0	0	0	1	0	0	0	6994	962	34	4	928	4	HADHB	2	26502944	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08		26502944	216696429	26	26562	215	2									
HADHB	3032	broad.mit.edu	37	chr2	26502945	26502945	+	Missense_Mutation	SNP	C	C	A																															taaaacctgcattcatcaagCcctacggcacagtgacagct																										TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:26502945C>A	ENST00000317799.5	+	10	999	c.895C>A	c.(895-897)Ccc>Acc	p.P299T	HADHB_ENST00000537713.1_Missense_Mutation_p.P284T|HADHB_ENST00000545822.1_Missense_Mutation_p.P277T|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.P176T	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	299					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCATCAAGCCCTACGGCAC	0.373													17	81					5.03518e-11	5.68488e-11	1	0	A	26502945	C	A	26502945	3	1	141	1	0	0	0	0	1	0	0	0	6994	739	26	4	929	4	HADHB	2	26502945	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	1	26502945	216696428	27	26563	215	2									
FOSL2	2355	broad.mit.edu	37	chr2	28634936	28634949	+	Frame_Shift_Del	DEL	CCCCAGCCCCTGGG	CCCCAGCCCCTGGG	-																															ccccgaggagcgccgatcgcCcccagcccctgggctgcagc																								rs112106981		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:28634936_28634949delCCCCAGCCCCTGGG	ENST00000264716.4	+	4	1465_1478	c.602_615delCCCCAGCCCCTGGG	c.(601-615)cfs	p.PPAPG201fs	FOSL2_ENST00000545753.1_Frame_Shift_Del_p.PPAPG162fs|FOSL2_ENST00000379619.1_Frame_Shift_Del_p.PPAPG193fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	201					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CGCCGATCGCCCCCAGCCCCTGGGCTGCAGCCCA	0.654													17	84	---	---	---	---					-	28634949	CCCCAGCCCCTGGG	-	28634936	7	5	141	1	0	1	0	1	0	0	0	0	6033	623	22	0	616	0	FOSL2	2	28634936	Frame_Shift_Del	DEL	CCCCAGCCCCTGGG	TCGA-CQ-5334-01A-01D-1683-08	2131991	28634936	214564437	28	26564											
SMEK2	57223	broad.mit.edu	37	chr2	55825607	55825607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaataaaagacgtaagagtaGaaagaaaattctcttcaaaa	23	8	6	4	1	2	4	1	0	1	4	3	4	2	4	0	0	0	2	0	0	10	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:55825607G>A	ENST00000272313.5	-	4	1193	c.866C>T	c.(865-867)tCt>tTt	p.S289F	SMEK2_ENST00000345102.5_Missense_Mutation_p.S289F|SMEK2_ENST00000407823.3_Missense_Mutation_p.S289F	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	289						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGTAAGAGTAGAAAGAAAATT	0.343													9	37					0	0	0	0	A	55825607	G	A	55825607	3	1	141	1	0	0	0	0	1	0	0	0	14882	942	33	2	1739	2	SMEK2	2	55825607	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	27190671	55825607	187373766	29	26565											
LOXL3	84695	broad.mit.edu	37	chr2	74763429	74763429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacctcaccctgccccatgCgagcgccactcagagcttct	7	7	7	20	2	3	1	2	0	1	1	3	2	3	1	6	0	4	1	6	0	0	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:74763429C>T	ENST00000264094.3	-	6	1153	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	LOXL3_ENST00000409549.1_Missense_Mutation_p.R361H|LOXL3_ENST00000393937.2_Missense_Mutation_p.R216H|LOXL3_ENST00000409986.1_Missense_Mutation_p.R216H|LOXL3_ENST00000409249.1_Missense_Mutation_p.R361H	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	361	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTGCCCCATGCGAGCGCCACT	0.642													33	130					0	0	0	0	T	74763429	C	T	74763429	3	4	141	1	0	0	0	0	1	0	0	0	8965	768	27	1	1215	1	LOXL3	2	74763429	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	18937822	74763429	168435944	30	26566											
TMEM131	23505	broad.mit.edu	37	chr2	98430838	98430838	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaataatgttgcagcatgatCaaatcccaaataactattaa	19	11	4	7	0	1	1	1	1	0	0	2	1	2	1	1	0	3	3	1	0	7	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:98430838C>G	ENST00000186436.5	-	14	1534	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H	TMEM131_ENST00000425805.2_3'UTR	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	436						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GCAGCATGATCAAATCCCAAA	0.323													5	22					0	0	0	0	G	98430838	C	G	98430838	3	3	141	1	0	0	0	0	1	0	0	0	16138	826	29	2	4457	2	TMEM131	2	98430838	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	23667409	98430838	144768535	31	26567											
RPL31	6160	broad.mit.edu	37	chr2	101622470	101622470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtccagaaaacgtaatgagGatgaagattcaccaaataag	18	8	9	6	1	1	4	1	2	0	2	2	5	2	5	2	1	1	1	2	1	6	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:101622470G>A	ENST00000264258.3	+	4	884	c.283G>A	c.(283-285)Gat>Aat	p.D95N	RPL31_ENST00000409038.1_Missense_Mutation_p.D95N|RPL31_ENST00000409650.1_Missense_Mutation_p.D95N|RPL31_ENST00000409711.1_3'UTR|RPL31_ENST00000409320.3_Missense_Mutation_p.D95N|RPL31_ENST00000409028.4_Missense_Mutation_p.D95N|RPL31_ENST00000409733.1_Missense_Mutation_p.D95N	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	95					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						ACGTAATGAGGATGAAGATTC	0.378													8	30					0	0	0	0	A	101622470	G	A	101622470	3	1	141	1	0	0	0	0	1	0	0	0	13666	1174	41	2	293	2	RPL31	2	101622470	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	3191632	101622470	141576903	32	26568											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460350	107460350	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggttgctgtcggtgaagtaGatgaaaatcagcaaaaagag	15	8	14	4	1	1	4	1	2	0	2	2	4	1	4	0	2	2	4	0	2	6	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:107460350G>C	ENST00000409382.3	-	2	694	c.84C>G	c.(82-84)atC>atG	p.I28M	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.I28M|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.I28M	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	28					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						CGGTGAAGTAGATGAAAATCA	0.562													7	24					0	0	0	0	C	107460350	G	C	107460350	3	2	141	1	0	0	0	0	1	0	0	0	15312	932	33	2	1612	2	ST6GAL2	2	107460350	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	5837880	107460350	135739023	33	26569											
LRP1B	53353	broad.mit.edu	37	chr2	141115599	141115599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcagtcatcaagtcgatCacactggagatccataggga	12	8	10	11	2	3	1	3	0	0	1	6	4	5	2	2	2	0	1	2	2	2	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:141115599C>A	ENST00000389484.3	-	74	12315	c.11344G>T	c.(11344-11346)Gat>Tat	p.D3782Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3782	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAAGTCGATCACACTGGAGA	0.413										TSP Lung(27;0.18)			21	56					3.5997e-14	4.16003e-14	1	0	A	141115599	C	A	141115599	3	1	141	1	0	0	0	0	1	0	0	0	9019	826	29	2	2527	2	LRP1B	2	141115599	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	33655249	141115599	102083774	34	26570											
ACVR1	90	broad.mit.edu	37	chr2	158595074	158595074	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaacggtggcttgtaatcctCcactatacctgcacacaagg	11	9	9	12	1	0	0	0	0	0	0	2	1	2	0	3	3	3	3	3	3	5	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:158595074C>G	ENST00000263640.3	-	10	1702	c.1273G>C	c.(1273-1275)Gag>Cag	p.E425Q	ACVR1_ENST00000434821.1_Missense_Mutation_p.E425Q|ACVR1_ENST00000409283.2_Missense_Mutation_p.E425Q|ACVR1_ENST00000410057.2_Missense_Mutation_p.E425Q	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	425	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TTGTAATCCTCCACTATACCT	0.453													15	78					0	0	0	0	G	158595074	C	G	158595074	3	3	141	1	0	0	0	0	1	0	0	0	220	864	30	2	264	2	ACVR1	2	158595074	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	17479475	158595074	84604299	35	26571											
PLCL1	5334	broad.mit.edu	37	chr2	198949131	198949131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggaaaaactaaccacccGcgtgaccgaagaggaatttt	16	6	9	10	3	0	2	0	1	0	1	0	5	0	4	3	2	2	0	3	2	6	3	rs140990771		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:198949131G>A	ENST00000428675.1	+	2	1288	c.890G>A	c.(889-891)cGc>cAc	p.R297H	PLCL1_ENST00000437704.2_Missense_Mutation_p.R199H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	297					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTAACCACCCGCGTGACCGAA	0.373													19	73					0	0	0	0	A	198949131	G	A	198949131	3	1	141	1	0	0	0	0	1	0	0	0	12111	1087	38	1	896	1	PLCL1	2	198949131	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	40354057	198949131	44250242	36	26572											
FAM126B	285172	broad.mit.edu	37	chr2	201846381	201846381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catactgcttgcgaactactGaatctcgagggctctcactg	9	11	9	12	2	2	1	1	1	2	0	4	3	2	1	0	1	5	2	0	1	4	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:201846381G>A	ENST00000418596.2	-	12	1392	c.1205C>T	c.(1204-1206)tCa>tTa	p.S402L	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	402						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GCGAACTACTGAATCTCGAGG	0.488													5	33					0	0	0	0	A	201846381	G	A	201846381	3	1	141	1	0	0	0	0	1	0	0	0	5471	1294	45	2	391	2	FAM126B	2	201846381	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	2897250	201846381	41352992	37	26573											
FAM126B	285172	broad.mit.edu	37	chr2	201846438	201846438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtttctttatccttggctGaacgcccagttgctactttc	5	17	7	12	1	1	1	0	1	1	0	3	1	2	1	2	1	3	4	2	1	3	7			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:201846438G>A	ENST00000418596.2	-	12	1335	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	383						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCCTTGGCTGAACGCCCAGT	0.493													7	34					0	0	0	0	A	201846438	G	A	201846438	3	1	141	1	0	0	0	0	1	0	0	0	5471	1294	45	2	448	2	FAM126B	2	201846438	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	57	201846438	41352935	38	26574											
CASP8	841	broad.mit.edu	37	chr2	202131210	202131210	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctgccttttaaaaagAtggacttcagcagaaatctt	12	14	6	9	0	3	2	1	0	2	2	4	3	3	3	2	1	2	1	2	1	4	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:202131210A>G	ENST00000358485.4	+	2	374	c.178A>G	c.(178-180)Atg>Gtg	p.M60V	CASP8_ENST00000264275.5_Start_Codon_SNP_p.M1V|CASP8_ENST00000264274.9_Start_Codon_SNP_p.M1V|CASP8_ENST00000392266.3_Start_Codon_SNP_p.M1V|CASP8_ENST00000392259.2_Start_Codon_SNP_p.M1V|CASP8_ENST00000323492.7_Start_Codon_SNP_p.M1V|CASP8_ENST00000432109.2_Splice_Site_p.M1_splice|CASP8_ENST00000392258.3_Start_Codon_SNP_p.M1V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	1	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTTTAAAAAGATGGACTTCAG	0.398										HNSCC(4;0.00038)			8	28					0	0	0	0	G	202131210	A	G	202131210	3	3	141	1	0	0	0	0	1	0	0	0	2702	347	12	5	184	5	CASP8	2	202131210	Missense_Mutation	SNP	A	TCGA-CQ-5334-01A-01D-1683-08	284772	202131210	41068163	39	26575											
PIKFYVE	200576	broad.mit.edu	37	chr2	209194623	209194623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acattaggaatatttttagaGagatactgtttcaggtaaga	15	14	9	3	0	1	3	1	0	0	3	1	5	1	4	0	2	1	2	0	2	6	8			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:209194623G>C	ENST00000264380.4	+	22	3935	c.3777G>C	c.(3775-3777)gaG>gaC	p.E1259D		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1259					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TATTTTTAGAGAGATACTGTT	0.318													7	28					0	0	0	0	C	209194623	G	C	209194623	3	2	141	1	0	0	0	0	1	0	0	0	11996	933	33	2	3870	2	PIKFYVE	2	209194623	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	7063413	209194623	34004750	40	26576											
SLC23A3	151295	broad.mit.edu	37	chr2	220029051	220029051	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactaagtgagccacttgctGagatccagcctgcatgaaga	12	8	10	11	0	0	4	0	3	0	2	1	5	1	4	3	0	4	2	3	0	2	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:220029051G>C	ENST00000455516.2	-	9	1248	c.1201C>G	c.(1201-1203)Cag>Gag	p.Q401E	SLC23A3_ENST00000409878.3_Missense_Mutation_p.Q393E|SLC23A3_ENST00000396775.3_Silent_p.L189L|SLC23A3_ENST00000295738.7_Missense_Mutation_p.Q276E	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	393					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACTTGCTGAGATCCAGCC	0.542													2	7					0	0	0	0	C	220029051	G	C	220029051	3	2	141	1	0	0	0	0	1	0	0	0	14552	1299	45	2	671	2	SLC23A3	2	220029051	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	10834428	220029051	23170322	41	26577											
SPEG	10290	broad.mit.edu	37	chr2	220344508	220344508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccactatttccacagatcCgggcctatatgcggcaggtg	8	9	11	13	2	0	1	0	0	0	1	2	1	2	1	4	3	1	1	4	3	3	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:220344508C>T	ENST00000312358.7	+	24	5221	c.5089C>T	c.(5089-5091)Cgg>Tgg	p.R1697W	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1697	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCACAGATCCGGGCCTATAT	0.602													5	30					0	0	0	0	T	220344508	C	T	220344508	3	4	141	1	0	0	0	0	1	0	0	0	15126	643	23	1	5195	1	SPEG	2	220344508	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	315457	220344508	22854865	42	26578											
FARSB	10056	broad.mit.edu	37	chr2	223494891	223494891	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatatcaagaactattttTgcctgcaaagaaaagaaaaa	21	10	5	5	0	1	3	1	0	0	3	1	3	1	3	1	0	3	1	1	0	10	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:223494891T>G	ENST00000281828.6	-	9	1052	c.789A>C	c.(787-789)gcA>gcC	p.A263A	FARSB_ENST00000536361.1_Silent_p.A164A	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	263					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GAACTATTTTTGCCTGCAAAG	0.299													10	39					0	0	0	0	G	223494891	T	G	223494891	2	3	141	1	0	0	0	0	0	0	0	1	5725	1799	63	5		5	FARSB	2	223494891	Silent	SNP	T	TCGA-CQ-5334-01A-01D-1683-08	3150383	223494891	19704482	43	26579											
ARMC9	80210	broad.mit.edu	37	chr2	232081419	232081419	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaccaaaggggcagccttGagccagaccacagagtttct	12	6	12	11	0	1	4	0	1	1	3	1	5	1	4	4	2	2	2	4	2	1	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:232081419G>C	ENST00000349938.4	+	5	611	c.417G>C	c.(415-417)ttG>ttC	p.L139F	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	139							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGGCAGCCTTGAGCCAGACCA	0.458													20	95					0	0	0	0	C	232081419	G	C	232081419	3	2	141	1	0	0	0	0	1	0	0	0	962	1281	45	2	431	2	ARMC9	2	232081419	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	8586528	232081419	11117954	44	26580											
AGAP1	116987	broad.mit.edu	37	chr2	236957775	236957775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggatccaccggaatcttgGcacccacctttcccgagtcc	8	8	9	16	2	1	0	0	0	1	0	4	3	4	2	6	3	0	1	6	3	1	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:236957775G>A	ENST00000409538.1	+	15	3096	c.2600G>A	c.(2599-2601)gGc>gAc	p.G867D	AGAP1_ENST00000304032.7_Missense_Mutation_p.G655D|AGAP1_ENST00000336665.5_Missense_Mutation_p.G602D|AGAP1_ENST00000428334.2_Missense_Mutation_p.G494D			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	655					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CGGAATCTTGGCACCCACCTT	0.557													3	59					0	0	0	0	A	236957775	G	A	236957775	3	1	141	1	0	0	0	0	1	0	0	0	366	1203	42	4	2026	4	AGAP1	2	236957775	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	4876356	236957775	6241598	45	26581											
LZTFL1	54585	broad.mit.edu	37	chr3	45879466	45879466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctacagttttgagtctCaagcctctctttgaacgagc	10	13	8	10	1	3	2	1	2	3	0	5	4	3	2	1	0	4	1	1	0	4	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:45879466C>A	ENST00000296135.6	-	2	255	c.81G>T	c.(79-81)ttG>ttT	p.L27F	LZTFL1_ENST00000536047.1_Missense_Mutation_p.L10F|LZTFL1_ENST00000490463.1_5'UTR|LZTFL1_ENST00000539217.1_Intron	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	27										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTTTGAGTCTCAAGCCTCTCT	0.403													6	51					0.00198382	0.00205947	1	0	A	45879466	C	A	45879466	3	1	141	1	0	0	0	0	1	0	0	0	9201	825	29	2	854	2	LZTFL1	3	45879466	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08		45879466	152142964	46	26582											
PTH1R	5745	broad.mit.edu	37	chr3	46937282	46937282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccacatcagggaagcccaGgaaagataaggcatctggga	14	5	13	9	0	2	1	1	0	1	1	3	4	3	4	2	4	1	1	2	4	3	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:46937282G>A	ENST00000449590.1	+	5	439	c.236G>A	c.(235-237)aGg>aAg	p.R79K	PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000313049.5_Missense_Mutation_p.R79K|PTH1R_ENST00000430002.2_Missense_Mutation_p.R79K|PTH1R_ENST00000418619.1_Missense_Mutation_p.R79K	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	79						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GGGAAGCCCAGGAAAGATAAG	0.547											OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	23					0	0	0	0	A	46937282	G	A	46937282	3	1	141	1	0	0	0	0	1	0	0	0	12838	1000	35	4	246	4	PTH1R	3	46937282	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	1057816	46937282	151085148	47	26583											
SCAP	22937	broad.mit.edu	37	chr3	47469138	47469138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacttgcagacacaactcctCcaagctcctgatcccagagc	11	7	6	17	0	0	3	0	1	0	2	4	3	4	3	4	0	4	2	4	0	2	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:47469138C>G	ENST00000265565.5	-	5	842	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	144					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	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi 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)		CACAACTCCTCCAAGCTCCTG	0.587													8	25					0	0	0	0	G	47469138	C	G	47469138	3	3	141	1	0	0	0	0	1	0	0	0	13963	864	30	2	3485	2	SCAP	3	47469138	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	531856	47469138	150553292	48	26584											
CELSR3	1951	broad.mit.edu	37	chr3	48680426	48680426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgctggccttgcctcctCaggcgctgccttcctgccca	3	10	11	17	1	1	0	1	0	0	0	3	0	3	0	6	3	4	2	6	3	0	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:48680426C>T	ENST00000544264.1	-	30	8675	c.8395G>A	c.(8395-8397)Gag>Aag	p.E2799K	CELSR3_ENST00000164024.4_Missense_Mutation_p.E2794K			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2794					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTTGCCTCCTCAGGCGCTGCC	0.627													19	64					0	0	0	0	T	48680426	C	T	48680426	3	4	141	1	0	0	0	0	1	0	0	0	3252	835	29	2	1586	2	CELSR3	3	48680426	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	1211288	48680426	149342004	49	26585											
GNAT1	2779	broad.mit.edu	37	chr3	50230738	50230738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	actcgctggaagagtgcctcGagtttatcgccatcatctac	9	11	9	12	3	2	1	1	0	1	1	5	3	2	2	2	1	2	2	2	1	3	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:50230738G>C	ENST00000232461.3	+	3	304	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	GNAT1_ENST00000433068.1_Missense_Mutation_p.E64Q	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	64					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGAGTGCCTCGAGTTTATCGC	0.587											OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	50					0	0	0	0	C	50230738	G	C	50230738	3	2	141	1	0	0	0	0	1	0	0	0	6562	1059	37	3	200	3	GNAT1	3	50230738	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	1550312	50230738	147791692	50	26586											
CACNA1D	776	broad.mit.edu	37	chr3	53769529	53769529	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccactccttccggaacaCggtaagtccccagggtgggg	8	6	13	14	2	0	0	0	0	0	0	3	1	3	1	5	5	2	1	5	5	2	2	rs145327253		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:53769529C>T	ENST00000288139.3	+	21	2928	c.2811_splice	c.e21+1	p.T937_splice	CACNA1D_ENST00000422281.2_Splice_Site_p.T917_splice|CACNA1D_ENST00000350061.5_Splice_Site_p.T917_splice	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	917					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTCCGGAACACGGTAAGTCCC	0.622													4	26					0	0	0	0	T	53769529	C	T	53769529	5	4	141	1	0	0	0	0	0	0	1	0	2566	550	19	1	3000	1	CACNA1D	3	53769529	Splice_Site	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	3538791	53769529	144252901	51	26587											
CACNA1D	776	broad.mit.edu	37	chr3	53839052	53839052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agatacccaggcagaaacatCgactctgagaggccccgagg	13	4	12	12	2	1	3	0	1	1	3	2	6	1	3	3	3	2	1	3	3	2	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:53839052C>G	ENST00000288139.3	+	46	5806	c.5688C>G	c.(5686-5688)atC>atG	p.I1896M	CACNA1D_ENST00000544977.1_Missense_Mutation_p.I255M|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1852M|CACNA1D_ENST00000350061.5_Missense_Mutation_p.I1876M	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1876					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCAGAAACATCGACTCTGAGA	0.537													15	36					0	0	0	0	G	53839052	C	G	53839052	3	3	141	1	0	0	0	0	1	0	0	0	2566	874	31	3	5978	3	CACNA1D	3	53839052	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	69523	53839052	144183378	52	26588											
MITF	4286	broad.mit.edu	37	chr3	70014097	70014097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatcatcaagcaagaacccGttcttgagaactgcagccaa	14	7	9	11	1	3	2	2	1	1	2	3	4	3	3	2	1	5	3	2	1	5	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:70014097G>A	ENST00000352241.4	+	10	1424	c.1261G>A	c.(1261-1263)Gtt>Att	p.V421I	MITF_ENST00000314589.5_Missense_Mutation_p.V405I|MITF_ENST00000394351.3_Missense_Mutation_p.V320I|MITF_ENST00000531774.1_Missense_Mutation_p.V258I|MITF_ENST00000472437.1_Missense_Mutation_p.V369I|MITF_ENST00000448226.2_Missense_Mutation_p.V427I|MITF_ENST00000314557.6_Missense_Mutation_p.V314I|MITF_ENST00000394355.2_Missense_Mutation_p.V396I|MITF_ENST00000328528.6_Missense_Mutation_p.V420I	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	427	DNA binding regulation.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GCAAGAACCCGTTCTTGAGAA	0.493			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						13	43					0	0	0	0	A	70014097	G	A	70014097	3	1	141	1	0	0	0	0	1	0	0	0	9665	1145	40	1	1538	1	MITF	3	70014097	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	16175045	70014097	128008333	53	26589											
EPHA3	2042	broad.mit.edu	37	chr3	89390977	89390977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatcctggactggagttggcCcctggacacaggaggccgga	8	7	15	11	1	0	0	0	0	0	0	1	5	1	5	4	7	0	1	4	7	1	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:89390977C>T	ENST00000336596.2	+	5	1268	c.1043C>T	c.(1042-1044)cCc>cTc	p.P348L	EPHA3_ENST00000494014.1_Missense_Mutation_p.P348L|EPHA3_ENST00000452448.2_Missense_Mutation_p.P348L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	348	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGAGTTGGCCCCTGGACACA	0.433										TSP Lung(6;0.00050)			14	36					0	0	0	0	T	89390977	C	T	89390977	3	4	141	1	0	0	0	0	1	0	0	0	5206	623	22	4	1061	4	EPHA3	3	89390977	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	19376880	89390977	108631453	54	26590											
TAGLN3	29114	broad.mit.edu	37	chr3	111732320	111732320	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccagggacagaacgtaatAggcctgcagatgggcagcaa	13	4	14	10	2	0	2	0	0	0	2	0	3	0	3	2	3	3	4	2	3	4	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:111732320A>C	ENST00000393917.2	+	5	1074	c.522A>C	c.(520-522)atA>atC	p.I174I	TAGLN3_ENST00000455401.2_Silent_p.I174I|TAGLN3_ENST00000273368.4_Silent_p.I174I|TAGLN3_ENST00000486460.1_Silent_p.I90I|TAGLN3_ENST00000478951.1_Silent_p.I174I	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	174					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						AGAACGTAATAGGCCTGCAGA	0.577													22	68					0	0	0	0	C	111732320	A	C	111732320	2	2	141	1	0	0	0	0	0	0	0	1	15631	410	15	5		5	TAGLN3	3	111732320	Silent	SNP	A	TCGA-CQ-5334-01A-01D-1683-08	22341343	111732320	86290110	55	26591											
SLC41A3	54946	broad.mit.edu	37	chr3	125786954	125786954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggccctgagagctccatCttctgaggctacagggagtc	8	8	14	11	0	2	2	0	2	2	1	4	4	3	3	2	4	2	2	2	4	1	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:125786954C>T	ENST00000360370.4	-	2	152	c.109G>A	c.(109-111)Gat>Aat	p.D37N	SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000315891.6_Missense_Mutation_p.D37N|SLC41A3_ENST00000346785.5_Missense_Mutation_p.D37N|SLC41A3_ENST00000514023.1_5'UTR			Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	37						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGAGCTCCATCTTCTGAGGCT	0.642													26	98					0	0	0	0	T	125786954	C	T	125786954	3	4	141	1	0	0	0	0	1	0	0	0	14719	913	32	2	1755	2	SLC41A3	3	125786954	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	14054634	125786954	72235476	56	26592											
EIF2A	83939	broad.mit.edu	37	chr3	150290245	150290245	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccaagtgaagtacccaatGaggaacctaaagttgcaaca	16	8	8	9	0	0	2	0	2	0	0	1	3	1	3	3	1	4	3	3	1	8	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:150290245G>C	ENST00000460851.1	+	10	1421	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	EIF2A_ENST00000487799.1_Missense_Mutation_p.E413Q|SERP1_ENST00000479209.1_Intron|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000406576.3_Missense_Mutation_p.E377Q|EIF2A_ENST00000383043.3_Missense_Mutation_p.E224Q|EIF2A_ENST00000273435.5_Missense_Mutation_p.E433Q			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	438					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGTACCCAATGAGGAACCTAA	0.358													17	62					0	0	0	0	C	150290245	G	C	150290245	3	2	141	1	0	0	0	0	1	0	0	0	5031	1291	45	2	1350	2	EIF2A	3	150290245	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	24503291	150290245	47732185	57	26593											
YEATS2	55689	broad.mit.edu	37	chr3	183433041	183433041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataagcggcataaagcaattGagaattcaggtagaaatcct	17	9	9	6	1	1	2	1	1	0	2	2	3	2	2	1	2	2	3	1	2	7	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:183433041G>A	ENST00000305135.5	+	2	286	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	31					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAAAGCAATTGAGAATTCAGG	0.398													13	40					0	0	0	0	A	183433041	G	A	183433041	3	1	141	1	0	0	0	0	1	0	0	0	17568	1291	45	2	93	2	YEATS2	3	183433041	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	33142796	183433041	14589389	58	26594											
SH3BP2	6452	broad.mit.edu	37	chr4	2831567	2831567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagccctggacccctggcCacggggcctgctccacttcc	4	6	12	19	2	0	0	0	0	0	0	2	2	2	2	7	5	2	1	7	5	0	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr4:2831567C>T	ENST00000442312.2	+	8	1197	c.1018C>T	c.(1018-1020)Cac>Tac	p.H340Y	SH3BP2_ENST00000452765.2_Missense_Mutation_p.H312Y|SH3BP2_ENST00000435136.2_Missense_Mutation_p.H312Y|SH3BP2_ENST00000503393.2_Missense_Mutation_p.H369Y|SH3BP2_ENST00000356331.5_Missense_Mutation_p.H312Y|SH3BP2_ENST00000511747.1_Missense_Mutation_p.H312Y	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	312					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GACCCCTGGCCACGGGGCCTG	0.672									Cherubism				15	72					0	0	0	0	T	2831567	C	T	2831567	3	4	141	1	0	0	0	0	1	0	0	0	14332	594	21	4	1219	4	SH3BP2	4	2831567	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08		2831567	188322709	59	26595											
FNIP2	57600	broad.mit.edu	37	chr4	159789364	159789364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctgacctactttctcCgttgctctgagctacaagag	8	13	8	12	1	2	3	0	2	2	1	4	3	3	3	3	0	4	3	3	0	3	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr4:159789364C>T	ENST00000264433.6	+	13	1651	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C	FNIP2_ENST00000379346.3_Missense_Mutation_p.R549C	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	526					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CTACTTTCTCCGTTGCTCTGA	0.498													19	76					0	0	0	0	T	159789364	C	T	159789364	3	4	141	1	0	0	0	0	1	0	0	0	6021	652	23	1	1626	1	FNIP2	4	159789364	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	156957797	159789364	31364912	60	26596											
TARS	6897	broad.mit.edu	37	chr5	33453512	33453512	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttgaggatgaggaagctCaggcagtaagttgctgatta	12	11	14	4	0	1	3	1	3	0	0	1	5	1	5	0	3	2	6	0	3	3	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:33453512C>G	ENST00000265112.3	+	4	759	c.448C>G	c.(448-450)Cag>Gag	p.Q150E	TARS_ENST00000502553.1_Missense_Mutation_p.Q150E|TARS_ENST00000414361.2_Intron|TARS_ENST00000455217.2_Missense_Mutation_p.Q183E|TARS_ENST00000541634.1_Missense_Mutation_p.Q46E	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	150					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGAGGAAGCTCAGGCAGTAAG	0.438													28	84					0	0	0	0	G	33453512	C	G	33453512	3	3	141	1	0	0	0	0	1	0	0	0	15650	827	29	2	462	2	TARS	5	33453512	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08		33453512	147461748	61	26597											
SLC25A46	91137	broad.mit.edu	37	chr5	110097165	110097165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagtatgttggatgcttatTttccagaacttattgctaac	11	16	8	6	0	0	2	0	0	0	2	1	3	1	3	1	1	4	4	1	1	5	8			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:110097165T>C	ENST00000355943.3	+	8	1066	c.940T>C	c.(940-942)Ttt>Ctt	p.F314L	SLC25A46_ENST00000513807.1_Missense_Mutation_p.F152L|SLC25A46_ENST00000504098.1_Missense_Mutation_p.F168L|SLC25A46_ENST00000509442.2_Missense_Mutation_p.F223L|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000447245.2_Missense_Mutation_p.F233L|SLC25A46_ENST00000509432.1_Missense_Mutation_p.F101L	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	314					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		GGATGCTTATTTTCCAGAACT	0.408													41	180					0	0	0	0	C	110097165	T	C	110097165	3	2	141	1	0	0	0	0	1	0	0	0	14599	1841	64	5	970	5	SLC25A46	5	110097165	Missense_Mutation	SNP	T	TCGA-CQ-5334-01A-01D-1683-08	76643653	110097165	70818095	62	26598											
ZCCHC10	54819	broad.mit.edu	37	chr5	132334527	132334527	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctactgctactggaactGgttacactcttagacctatt	9	14	7	11	0	1	1	0	0	1	1	1	2	1	2	1	2	6	3	1	2	6	6	rs55645444		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:132334527G>C	ENST00000324170.3	-	4	327	c.261C>G	c.(259-261)acC>acG	p.T87T	ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000355372.2_Intron|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000509437.1_Silent_p.T109T|ZCCHC10_ENST00000513848.1_Silent_p.T73T|ZCCHC10_ENST00000513541.1_3'UTR	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	109							nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACTGGAACTGGTTACACTCT	0.383													11	51					0	0	0	0	C	132334527	G	C	132334527	2	2	141	1	0	0	0	0	0	0	0	1	17674	1335	47	4		4	ZCCHC10	5	132334527	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	22237362	132334527	48580733	63	26599											
BRD8	10902	broad.mit.edu	37	chr5	137500615	137500615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggttccaccttgatctCtgcactgggctccctgatgt	5	13	10	13	0	1	2	0	2	1	0	4	2	3	2	3	2	2	4	3	2	0	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:137500615C>T	ENST00000254900.5	-	12	1890	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000455658.2_Missense_Mutation_p.E466K|BRD8_ENST00000411594.2_Missense_Mutation_p.E510K|BRD8_ENST00000230901.5_Missense_Mutation_p.E580K|BRD8_ENST00000402931.1_Missense_Mutation_p.E507K	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	507					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCTTGATCTCTGCACTGGGC	0.512													18	85					0	0	0	0	T	137500615	C	T	137500615	3	4	141	1	0	0	0	0	1	0	0	0	1514	922	32	2	2316	2	BRD8	5	137500615	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	5166088	137500615	43414645	64	26600											
PCDHA4	56144	broad.mit.edu	37	chr5	140188125	140188125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggctgatgtgaacgacaaCgctccggcgttcgcgcagcc	7	7	14	13	6	0	2	0	2	0	0	2	3	1	2	2	2	3	4	2	2	2	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:140188125C>T	ENST00000530339.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA4_ENST00000356878.4_Silent_p.N451N|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.N451N|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCTCCGGCGT	0.647													23	74					0	0	0	0	T	140188125	C	T	140188125	2	4	141	1	0	0	0	0	0	0	0	1	11597	535	19	1		1	PCDHA4	5	140188125	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	2687510	140188125	40727135	65	26601											
ATP10B	23120	broad.mit.edu	37	chr5	160059205	160059205	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atagacctttgccggtagtgGccctggatgggcacccgggc	6	8	15	12	2	0	1	0	0	0	1	0	2	0	2	4	5	1	2	4	5	2	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:160059205G>T	ENST00000327245.5	-	13	2397	c.1551C>A	c.(1549-1551)ggC>ggA	p.G517G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	517					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCGGTAGTGGCCCTGGATGG	0.567													7	43					2.7689e-08	3.01502e-08	1	0	T	160059205	G	T	160059205	2	4	141	1	0	0	0	0	0	0	0	1	1121	1190	42	4		4	ATP10B	5	160059205	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	19871080	160059205	20856055	66	26602											
GPRIN1	114787	broad.mit.edu	37	chr5	176025708	176025708	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgaggaggcagggtccatCtttcccaggaaccgggagtc	8	7	14	12	1	1	1	0	1	1	0	4	4	3	4	4	5	1	1	4	5	1	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:176025708C>G	ENST00000303991.4	-	2	1305	c.1128G>C	c.(1126-1128)aaG>aaC	p.K376N		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	376						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGGTCCATCTTTCCCAGGA	0.542													9	48					0	0	0	0	G	176025708	C	G	176025708	3	3	141	1	0	0	0	0	1	0	0	0	6779	912	32	2	1902	2	GPRIN1	5	176025708	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	15966503	176025708	4889552	67	26603											
GCM2	9247	broad.mit.edu	37	chr6	10876748	10876748	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccgctgtgccctcgacaaGgaatcaactccaaagcagaa	14	6	8	13	2	1	1	1	0	0	1	4	3	3	2	3	1	3	2	3	1	5	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:10876748G>C	ENST00000379491.4	-	3	533	c.386C>G	c.(385-387)cCt>cGt	p.P129R	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	129					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CCCTCGACAAGGAATCAACTC	0.493													16	18					0	0	0	0	C	10876748	G	C	10876748	3	2	141	1	0	0	0	0	1	0	0	0	6347	1000	35	4	1146	4	GCM2	6	10876748	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08		10876748	160238319	68	26604											
HIST1H3J	8356	broad.mit.edu	37	chr6	27858539	27858539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgccttgccgccggtaGacttgcgagctgtctgcttc	3	11	14	13	4	1	1	0	0	1	1	2	2	1	1	3	2	5	3	3	2	1	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:27858539G>T	ENST00000359303.2	-	1	31	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	HIST1H3J_ENST00000479986.1_5'UTR	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	11					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GCCGCCGGTAGACTTGCGAGC	0.582													5	34					8.12818e-05	8.5468e-05	1	0	T	27858539	G	T	27858539	3	4	141	1	0	0	0	0	1	0	0	0	7214	942	33	2	382	2	HIST1H3J	6	27858539	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	16981791	27858539	143256528	69	26605											
NOTCH4	4855	broad.mit.edu	37	chr6	32166457	32166457	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctccctcctcagggcctGagcacatcacaactccatcc	8	8	5	20	0	3	1	2	1	1	0	7	1	6	1	6	1	2	1	6	1	1	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:32166457G>C	ENST00000375023.3	-	25	4724	c.4586C>G	c.(4585-4587)tCa>tGa	p.S1529*		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1529					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTCAGGGCCTGAGCACATCAC	0.542													6	27					0	0	0	0	C	32166457	G	C	32166457	4	2	141	1	0	0	0	0	0	1	0	0	10621	1294	45	2	1449	2	NOTCH4	6	32166457	Nonsense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	4307918	32166457	138948610	70	26606											
ZBTB22	9278	broad.mit.edu	37	chr6	33283438	33283442	+	Frame_Shift_Del	DEL	AAGGG	AAGGG	-																															tctggttgccctgcatgtccAagggaaggagcggtcgagga																										TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:33283438_33283442delAAGGG	ENST00000431845.2	-	2	1403_1407	c.1252_1256delCCCTT	c.(1252-1257)gfs	p.PL418fs	ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.PL418fs	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTGCATGTCCAAGGGAAGGAGCGGT	0.62													76	191	---	---	---	---					-	33283442	AAGGG	-	33283438	7	5	141	1	0	1	0	1	0	0	0	0	17625	131	5	0	652	0	ZBTB22	6	33283438	Frame_Shift_Del	DEL	AAGGG	TCGA-CQ-5334-01A-01D-1683-08	1116981	33283438	137831629	71	26607											
PHF1	5252	broad.mit.edu	37	chr6	33382536	33382536	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagattaagaagaggaaaTgtttgtttggtctccatgct	12	13	12	4	0	1	3	0	0	1	3	2	6	1	4	1	2	1	3	1	2	3	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:33382536T>A	ENST00000374516.3	+	11	1250	c.979T>A	c.(979-981)Tgt>Agt	p.C327S	PHF1_ENST00000374512.3_Missense_Mutation_p.C327S	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	327					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GAAGAGGAAATGTTTGTTTGG	0.512											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	115					0	0	0	0	A	33382536	T	A	33382536	3	1	141	1	0	0	0	0	1	0	0	0	11892	1464	51	5	1017	5	PHF1	6	33382536	Missense_Mutation	SNP	T	TCGA-CQ-5334-01A-01D-1683-08	99098	33382536	137732531	72	26608											
SYNGAP1	8831	broad.mit.edu	37	chr6	33403058	33403058	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagccagtgcacagctccatCctgggccaggagttctgttt	8	10	11	12	0	1	0	0	0	1	0	3	1	3	1	4	2	3	4	4	2	1	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:33403058C>G	ENST00000418600.2	+	6	740	c.639C>G	c.(637-639)atC>atG	p.I213M	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.I154M|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.I213M	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	213	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						ACAGCTCCATCCTGGGCCAGG	0.552													24	43					0	0	0	0	G	33403058	C	G	33403058	3	3	141	1	0	0	0	0	1	0	0	0	15538	845	30	2	661	2	SYNGAP1	6	33403058	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	20522	33403058	137712009	73	26609											
PPP2R5D	5528	broad.mit.edu	37	chr6	42975737	42975737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcaagaccattttgcatcGcatctatggcaagtttttgg	9	14	8	10	1	2	1	1	0	1	1	3	1	2	1	2	2	1	4	2	2	3	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:42975737G>A	ENST00000485511.1	+	7	970	c.791G>A	c.(790-792)cGc>cAc	p.R264H	PPP2R5D_ENST00000394110.3_Missense_Mutation_p.R232H|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.R256H|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.R158H	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	264					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R264H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATTTTGCATCGCATCTATGGC	0.542													21	97					0	0	0	0	A	42975737	G	A	42975737	3	1	141	1	0	0	0	0	1	0	0	0	12471	1087	38	1	817	1	PPP2R5D	6	42975737	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	9572679	42975737	128139330	74	26610											
PTK7	5754	broad.mit.edu	37	chr6	43109979	43109979	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggactcaggccgctacacCtgcattgcaggcaacagctg	10	6	12	13	1	1	0	1	0	0	0	1	2	1	1	2	3	5	5	2	3	2	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:43109979C>T	ENST00000230419.4	+	13	2210	c.1989C>T	c.(1987-1989)acC>acT	p.T663T	PTK7_ENST00000349241.2_Silent_p.T533T|PTK7_ENST00000345201.2_Silent_p.T623T|PTK7_ENST00000481273.1_Silent_p.T671T|PTK7_ENST00000352931.2_Intron	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	663	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCCGCTACACCTGCATTGCAG	0.607													24	26					0	0	0	0	T	43109979	C	T	43109979	2	4	141	1	0	0	0	0	0	0	0	1	12845	668	24	4		4	PTK7	6	43109979	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	134242	43109979	128005088	75	26611											
CUL9	23113	broad.mit.edu	37	chr6	43173028	43173028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagtttgccaggtacattGaccaacagatccagggtggc	11	8	12	10	0	0	2	0	1	0	1	1	2	1	2	3	3	4	3	3	3	2	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:43173028G>A	ENST00000252050.4	+	24	4744	c.4660G>A	c.(4660-4662)Gac>Aac	p.D1554N	CUL9_ENST00000372647.2_Missense_Mutation_p.D1554N|CUL9_ENST00000354495.3_Missense_Mutation_p.D1444N	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1554					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGGTACATTGACCAACAGAT	0.567													43	215					0	0	0	0	A	43173028	G	A	43173028	3	1	141	1	0	0	0	0	1	0	0	0	4093	1290	45	2	4750	2	CUL9	6	43173028	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	63049	43173028	127942039	76	26612											
MCM9	254394	broad.mit.edu	37	chr6	119245037	119245037	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggagacgaagacaagcctGagaggcaagtgaatttagag	15	7	14	5	1	0	5	0	2	0	4	0	8	0	5	1	2	1	1	1	2	5	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:119245037G>C	ENST00000316316.6	-	3	846	c.560C>G	c.(559-561)tCa>tGa	p.S187*	MCM9_ENST00000316068.3_Nonsense_Mutation_p.S187*	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	187					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	p.S187*(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AGACAAGCCTGAGAGGCAAGT	0.418													14	57					0	0	0	0	C	119245037	G	C	119245037	4	2	141	1	0	0	0	0	0	1	0	0	9463	1294	45	2	635	2	MCM9	6	119245037	Nonsense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	76072009	119245037	51870030	77	26613											
NKAIN2	154215	broad.mit.edu	37	chr6	124676415	124676415	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgcttctctacagtaTgctgtctggctagtcctctg	4	17	8	12	0	4	0	0	0	4	0	7	0	5	0	1	1	3	4	1	1	3	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:124676415T>C	ENST00000368417.1	+	3	255	c.195T>C	c.(193-195)taT>taC	p.Y65Y	NKAIN2_ENST00000546092.1_Silent_p.Y65Y|NKAIN2_ENST00000545433.1_Silent_p.Y50Y|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000368416.1_Silent_p.Y65Y	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	65						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CTCTACAGTATGCTGTCTGGC	0.373													30	140					0	0	0	0	C	124676415	T	C	124676415	2	2	141	1	0	0	0	0	0	0	0	1	10506	1471	51	5		5	NKAIN2	6	124676415	Silent	SNP	T	TCGA-CQ-5334-01A-01D-1683-08	5431378	124676415	46438652	78	26614											
SHPRH	257218	broad.mit.edu	37	chr6	146247400	146247400	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgggtgcctggctatcaaCaattccatcaagttatgggt	9	12	10	10	0	2	0	2	0	0	0	3	0	3	0	3	3	2	2	3	3	5	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:146247400C>T	ENST00000367503.3	-	16	3659	c.3261G>A	c.(3259-3261)ttG>ttA	p.L1087L	SHPRH_ENST00000275233.7_Silent_p.L1078L|SHPRH_ENST00000438092.2_Silent_p.L1087L|SHPRH_ENST00000367505.2_Silent_p.L1078L	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1078					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGGCTATCAACAATTCCATCA	0.383													15	73					0	0	0	0	T	146247400	C	T	146247400	2	4	141	1	0	0	0	0	0	0	0	1	14379	477	17	4		4	SHPRH	6	146247400	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	21570985	146247400	24867667	79	26615											
CNKSR3	154043	broad.mit.edu	37	chr6	154727688	154727688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccggaccagatgccgctCggtcgtgggtctggagaacc	7	6	14	14	4	1	2	0	0	1	2	3	4	1	3	5	4	2	1	5	4	1	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:154727688C>T	ENST00000607772.1	-	13	2012	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	CNKSR3_ENST00000479339.1_Missense_Mutation_p.E410K|CNKSR3_ENST00000433165.2_Missense_Mutation_p.E315K	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	490	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		AGATGCCGCTCGGTCGTGGGT	0.582													15	77					0	0	0	0	T	154727688	C	T	154727688	3	4	141	1	0	0	0	0	1	0	0	0	3638	893	31	1	203	1	CNKSR3	6	154727688	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	8480288	154727688	16387379	80	26616											
SNX8	29886	broad.mit.edu	37	chr7	2296548	2296548	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgagagttgacgaaggcgcgGaggatgtgggaggtgagggg	9	6	23	3	3	0	3	0	3	0	1	0	8	0	6	0	7	0	1	0	7	1	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:2296548G>A	ENST00000222990.3	-	10	1287	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	415					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGAAGGCGCGGAGGATGTGGG	0.627													9	33					0	0	0	0	A	2296548	G	A	2296548	2	1	141	1	0	0	0	0	0	0	0	1	14996	1161	41	2		2	SNX8	7	2296548	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08		2296548	156842115	81	26617											
CREB5	9586	broad.mit.edu	37	chr7	28844023	28844023	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcacaccatcctcaccctCaaccccatcaccagcagaac	13	4	3	21	0	3	1	3	0	0	1	4	1	4	1	6	0	4	2	6	0	2	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:28844023C>G	ENST00000357727.2	+	8	1300	c.910C>G	c.(910-912)Caa>Gaa	p.Q304E	CREB5_ENST00000396300.2_Missense_Mutation_p.Q297E|CREB5_ENST00000409603.1_Missense_Mutation_p.Q271E|CREB5_ENST00000396299.2_Missense_Mutation_p.Q271E|CREB5_ENST00000396298.2_Missense_Mutation_p.Q165E	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	304					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						tcctcaccctcaaccccatca	0.602													11	25					0	0	0	0	G	28844023	C	G	28844023	3	3	141	1	0	0	0	0	1	0	0	0	3890	827	29	2	991	2	CREB5	7	28844023	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	26547475	28844023	130294640	82	26618											
CCDC129	223075	broad.mit.edu	37	chr7	31683179	31683179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttggggactggtcccagagGaacatctttagaatgcactg	10	10	12	9	0	1	2	0	0	1	2	2	4	2	4	1	4	2	1	1	4	3	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:31683179G>T	ENST00000319386.3	+	11	2744	c.1751G>T	c.(1750-1752)gGa>gTa	p.G584V	CCDC129_ENST00000407970.3_Missense_Mutation_p.G732V|CCDC129_ENST00000451887.2_Missense_Mutation_p.G758V|CCDC129_ENST00000409210.1_Missense_Mutation_p.G640V			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	732										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGTCCCAGAGGAACATCTTTA	0.507													14	62					4.93089e-13	5.67168e-13	1	0	T	31683179	G	T	31683179	3	4	141	1	0	0	0	0	1	0	0	0	2789	1174	41	2	2233	2	CCDC129	7	31683179	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	2839156	31683179	127455484	83	26619											
MYO1G	64005	broad.mit.edu	37	chr7	45005749	45005749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccagtgtccggggtgagcGgatgaacagcttgctgtggc	7	8	17	9	2	0	2	0	2	0	0	1	4	1	3	2	4	4	2	2	4	1	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:45005749G>A	ENST00000258787.7	-	16	2216	c.2080C>T	c.(2080-2082)Cgc>Tgc	p.R694C		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	694						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CGGGGTGAGCGGATGAACAGC	0.647													8	37					0	0	0	0	A	45005749	G	A	45005749	3	1	141	1	0	0	0	0	1	0	0	0	10144	1116	39	1	1004	1	MYO1G	7	45005749	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	13322570	45005749	114132914	84	26620											
GTF2I	2969	broad.mit.edu	37	chr7	74114630	74114630	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccatatgagaagatgctgCgagaccagtcggctgtggta	11	9	13	8	2	0	3	0	1	0	3	1	5	0	3	2	2	3	3	2	2	4	3	rs1064765	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:74114630C>T	ENST00000324896.4	+	5	816	c.427C>T	c.(427-429)Cga>Tga	p.R143*	AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Nonsense_Mutation_p.R143*|GTF2I_ENST00000353920.4_Nonsense_Mutation_p.R143*|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000346152.4_Nonsense_Mutation_p.R143*|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000416070.1_Nonsense_Mutation_p.R143*	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	143					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GAAGATGCTGCGAGACCAGTC	0.478													11	72					0	0	0	0	T	74114630	C	T	74114630	4	4	141	1	0	0	0	0	0	1	0	0	6917	760	27	1	441	1	GTF2I	7	74114630	Nonsense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	29108881	74114630	85024033	85	26621											
PLOD3	8985	broad.mit.edu	37	chr7	100849690	100849690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggggaggagatcacacagtCgtagcgcaggaagcggcagc	11	3	17	10	4	1	1	1	0	0	1	2	4	1	3	0	5	3	3	0	5	2	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:100849690C>T	ENST00000223127.3	-	19	2487	c.2089G>A	c.(2089-2091)Gac>Aac	p.D697N		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	697	Fe2OG dioxygenase.				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ATCACACAGTCGTAGCGCAGG	0.652													7	19					0	0	0	0	T	100849690	C	T	100849690	3	4	141	1	0	0	0	0	1	0	0	0	12175	884	31	1	131	1	PLOD3	7	100849690	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	26735060	100849690	58288973	86	26622											
LMOD2	442721	broad.mit.edu	37	chr7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-																															tttctgaggaagtgtatacaGaggaggaggaggaggagtcc																										TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:123301995_123301997delGAG	ENST00000458573.2	+	2	512_514	c.355_357delGAG	c.(355-357)del	p.E124del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	124	Glu-rich.					cytoskeleton	actin binding|tropomyosin binding										AGTGTATACAgaggaggaggagg	0.409													2	4	---	---	---	---					-	123301997	GAG	-	123301995	7	5	141	1	0	1	0	1	0	0	0	0	8912	943	33	0	361	0	LMOD2	7	123301995	In_Frame_Del	DEL	GAG	TCGA-CQ-5334-01A-01D-1683-08	22452305	123301995	35836668	87	26623											
SSPO	23145	broad.mit.edu	37	chr7	149493600	149493600	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggagctgctgggctgcgagCcaggtacaggttgcgcaggg	6	7	19	9	2	0	0	0	0	0	0	0	2	0	1	1	5	6	6	1	5	1	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:149493600C>T	ENST00000378016.2	+	0	6676							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCTGCGAGCCAGGTACAGG	0.672													15	68					0	0	0	0	T	149493600	C	T	149493600	1	4	141	0	1	0	0	0	0	0	0	0	15279	739	26	4		4	SSPO	7	149493600	RNA	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	26191605	149493600	9645063	88	26624											
UBR5	51366	broad.mit.edu	37	chr8	103305964	103305964	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacgagcaatccccattctGacaggaacaatcagtgactc	13	7	9	12	1	2	2	1	2	1	0	4	5	3	4	2	2	2	1	2	2	3	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:103305964G>C	ENST00000520539.1	-	34	5064	c.4458C>G	c.(4456-4458)gtC>gtG	p.V1486V	UBR5_ENST00000220959.4_Silent_p.V1486V|UBR5_ENST00000521922.1_Silent_p.V1480V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1486					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCCCATTCTGACAGGAACAA	0.463													4	21					0	0	0	0	C	103305964	G	C	103305964	2	2	141	1	0	0	0	0	0	0	0	1	17001	1277	45	2		2	UBR5	8	103305964	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08		103305964	43058058	89	26625											
BAI1	575	broad.mit.edu	37	chr8	143562715	143562715	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgactacagaaacatccaGatgatggtgagggccagttc	13	9	11	8	0	0	5	0	3	0	2	2	5	1	5	2	2	2	1	2	2	2	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:143562715G>C	ENST00000517894.1	+	10	2823	c.1929G>C	c.(1927-1929)caG>caC	p.Q643H	BAI1_ENST00000323289.5_Missense_Mutation_p.Q643H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	643					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAAACATCCAGATGATGGTGA	0.607													16	66					0	0	0	0	C	143562715	G	C	143562715	3	2	141	1	0	0	0	0	1	0	0	0	1302	933	33	2	1963	2	BAI1	8	143562715	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	40256751	143562715	2801307	90	26626											
LY6D	8581	broad.mit.edu	37	chr8	143866646	143866646	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggggaaggtcacaggctGggggctaagatgacggccag	9	5	20	7	1	1	2	1	1	0	1	1	3	1	3	1	8	0	2	1	8	2	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:143866646G>A	ENST00000301263.4	-	3	453	c.378C>T	c.(376-378)ccC>ccT	p.P126P	LY6D_ENST00000518434.1_5'UTR	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	126					cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding			large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GTCACAGGCTGGGGGCTAAGA	0.667													5	21					0	0	0	0	A	143866646	G	A	143866646	2	1	141	1	0	0	0	0	0	0	0	1	9155	1335	47	4		4	LY6D	8	143866646	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	303931	143866646	2497376	91	26627											
EPPK1	83481	broad.mit.edu	37	chr8	144940413	144940413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctgggcctccagcaggcGgatgccgtgctcccggacga	6	6	15	14	4	1	0	0	0	1	0	3	4	3	2	4	4	3	2	4	4	0	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:144940413G>A	ENST00000525985.1	-	2	7080	c.7009C>T	c.(7009-7011)Cgc>Tgc	p.R2337C				P58107	EPIPL_HUMAN	epiplakin 1	2337						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCAGCAGGCGGATGCCGTGC	0.701													9	397					0	0	0	0	A	144940413	G	A	144940413	3	1	141	1	0	0	0	0	1	0	0	0	5228	1116	39	1	257	1	EPPK1	8	144940413	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	1073767	144940413	1423609	92	26628											
ALDH1B1	219	broad.mit.edu	37	chr9	38396723	38396723	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgctggctcccggaccttCgtggaagaatccatctacaa	9	10	10	12	2	1	1	0	0	1	1	4	3	3	3	3	3	2	2	3	3	4	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:38396723C>T	ENST00000377698.3	+	2	1131	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	326					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CCCGGACCTTCGTGGAAGAAT	0.577													8	33					0	0	0	0	T	38396723	C	T	38396723	2	4	141	1	0	0	0	0	0	0	0	1	493	883	31	1		1	ALDH1B1	9	38396723	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08		38396723	102816708	93	26629											
TRPM6	140803	broad.mit.edu	37	chr9	77343238	77343238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcttcccccaaattggccGgtccaaacaccattcctctt	9	11	4	17	1	2	0	0	0	2	0	5	0	5	0	6	2	1	0	6	2	2	4	rs143161006		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:77343238G>A	ENST00000451710.3	-	37	6101	c.5864C>T	c.(5863-5865)cCg>cTg	p.P1955L	TRPM6_ENST00000449912.2_Missense_Mutation_p.P1946L|TRPM6_ENST00000376871.3_Missense_Mutation_p.P788L|TRPM6_ENST00000376872.3_Missense_Mutation_p.P906L|TRPM6_ENST00000361255.3_Missense_Mutation_p.P1946L|TRPM6_ENST00000360774.1_Missense_Mutation_p.P1951L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1951	Alpha-type protein kinase.				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						CAAATTGGCCGGTCCAAACAC	0.428													12	33					0	0	0	0	A	77343238	G	A	77343238	3	1	141	1	0	0	0	0	1	0	0	0	16685	1116	39	1	224	1	TRPM6	9	77343238	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	38946515	77343238	63870193	94	26630											
ABCA1	19	broad.mit.edu	37	chr9	107571747	107571747	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggctaaagtggcactcacGggattgggtttccttccata	9	12	11	9	1	1	0	1	0	0	0	3	1	3	1	2	4	0	3	2	4	3	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:107571747G>A	ENST00000374736.3	-	30	4668	c.4274_splice	c.e30+1	p.P1425_splice		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1425					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGGCACTCACGGGATTGGGTT	0.512													10	25					0	0	0	0	A	107571747	G	A	107571747	5	1	141	1	0	0	0	0	0	0	1	0	28	1130	39	1	2595	1	ABCA1	9	107571747	Splice_Site	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	30228509	107571747	33641684	95	26631											
FNBP1	23048	broad.mit.edu	37	chr9	132687418	132687418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaccctgatttataagcttCtattaccagctgtgaatcct	12	14	5	10	0	1	2	0	2	1	0	2	2	2	2	3	0	4	2	3	0	6	6			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:132687418C>T	ENST00000420781.1	-	9	1026	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	FNBP1_ENST00000446176.2_Missense_Mutation_p.E270K|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Missense_Mutation_p.E270K			Q96RU3	FNBP1_HUMAN	formin binding protein 1	270	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTATAAGCTTCTATTACCAGC	0.403			T	MLL	AML								13	46					0	0	0	0	T	132687418	C	T	132687418	3	4	141	1	0	0	0	0	1	0	0	0	6010	922	32	2	1081	2	FNBP1	9	132687418	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	25115671	132687418	8526013	96	26632											
DBH	1621	broad.mit.edu	37	chr9	136522324	136522326	+	In_Frame_Del	DEL	CAA	CAA	-																															gcgcccatctccatgcactgCaacaagtcctcagccgtccg																										TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:136522324_136522326delCAA	ENST00000393056.2	+	11	1707_1709	c.1695_1697delCAA	c.(1693-1698)tgc>tg	p.CN565del	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	565					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCATGCACTGCAACAAGTCCTCA	0.64													9	50	---	---	---	---					-	136522326	CAA	-	136522324	7	5	141	1	0	1	0	1	0	0	0	0	4283	718	25	0	1737	0	DBH	9	136522324	In_Frame_Del	DEL	CAA	TCGA-CQ-5334-01A-01D-1683-08	3834906	136522324	4691107	97	26633											
NOTCH1	4851	broad.mit.edu	37	chr9	139402562	139402562	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtccacacagagccctcCatgctggcacaggcgggcaa	9	4	12	16	3	0	1	0	0	0	1	2	1	2	1	3	3	2	3	3	3	1	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:139402562C>A	ENST00000277541.6	-	21	3430	c.3355G>T	c.(3355-3357)Gga>Tga	p.G1119*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1119	EGF-like 29.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGAGCCCTCCATGCTGGCAC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			10	25					2.17888e-05	2.30097e-05	1	0	A	139402562	C	A	139402562	4	1	141	1	0	0	0	0	0	1	0	0	10617	603	21	4	4368	4	NOTCH1	9	139402562	Nonsense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	2880238	139402562	1810869	98	26634											
ITGB1	3688	broad.mit.edu	37	chr10	33211192	33211192	+	Missense_Mutation	SNP	G	G	A																															aagatgtactcacattgtatGcatcaatgatcaactgaatt																										TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:33211192G>A	ENST00000396033.2	-	9	1256	c.1121C>T	c.(1120-1122)gCa>gTa	p.A374V	ITGB1_ENST00000423113.1_Missense_Mutation_p.A374V|ITGB1_ENST00000302278.3_Missense_Mutation_p.A374V|ITGB1_ENST00000374956.4_Missense_Mutation_p.A374V	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	374	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CACATTGTATGCATCAATGAT	0.328													12	52					0	0	0	0	A	33211192	G	A	33211192	3	1	141	1	0	0	0	0	1	0	0	0	7943	1319	46	4	1545	4	ITGB1	10	33211192	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08		33211192	102323555	99	26635	216	2									
ITGB1	3688	broad.mit.edu	37	chr10	33211193	33211193	+	Missense_Mutation	SNP	C	C	A																															agatgtactcacattgtatgCatcaatgatcaactgaatta																										TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:33211193C>A	ENST00000396033.2	-	9	1255	c.1120G>T	c.(1120-1122)Gca>Tca	p.A374S	ITGB1_ENST00000423113.1_Missense_Mutation_p.A374S|ITGB1_ENST00000302278.3_Missense_Mutation_p.A374S|ITGB1_ENST00000374956.4_Missense_Mutation_p.A374S	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	374	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACATTGTATGCATCAATGATC	0.323													12	52					0.000151284	0.000158396	1	0	A	33211193	C	A	33211193	3	1	141	1	0	0	0	0	1	0	0	0	7943	710	25	4	1546	4	ITGB1	10	33211193	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	1	33211193	102323554	100	26636	216	2									
FAM13C	220965	broad.mit.edu	37	chr10	61112119	61112119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccatgctgggtcgcaataCgctgtccaccagcacggtcg	7	7	12	15	4	0	0	0	0	0	0	3	0	1	0	3	2	3	4	3	2	2	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:61112119C>T	ENST00000277705.6	-	3	336	c.235G>A	c.(235-237)Gta>Ata	p.V79I	FAM13C_ENST00000442566.3_Missense_Mutation_p.V79I|FAM13C_ENST00000373868.2_Missense_Mutation_p.V79I|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000419214.2_Missense_Mutation_p.V79I|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000422313.2_Missense_Mutation_p.V79I|FAM13C_ENST00000435852.2_Missense_Mutation_p.V79I			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	79										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						GGTCGCAATACGCTGTCCACC	0.607													5	28					0	0	0	0	T	61112119	C	T	61112119	3	4	141	1	0	0	0	0	1	0	0	0	5495	536	19	1	1570	1	FAM13C	10	61112119	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	27900926	61112119	74422628	101	26637											
FAM13C	220965	broad.mit.edu	37	chr10	61112150	61112150	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcacggtcgcctctacattCtgctgctgcggctcccaaga	7	9	10	15	3	2	1	0	0	2	1	4	1	3	1	2	2	5	4	2	2	2	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:61112150C>T	ENST00000277705.6	-	3	305	c.204G>A	c.(202-204)caG>caA	p.Q68Q	FAM13C_ENST00000442566.3_Silent_p.Q68Q|FAM13C_ENST00000373868.2_Silent_p.Q68Q|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000419214.2_Silent_p.Q68Q|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000422313.2_Silent_p.Q68Q|FAM13C_ENST00000435852.2_Silent_p.Q68Q			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	68										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						CCTCTACATTCTGCTGCTGCG	0.562													3	19					0	0	0	0	T	61112150	C	T	61112150	2	4	141	1	0	0	0	0	0	0	0	1	5495	912	32	2		2	FAM13C	10	61112150	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	31	61112150	74422597	102	26638											
VCL	7414	broad.mit.edu	37	chr10	75856965	75856965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacaatgtttttaaggatCtaaaagctcggatgcaggag	15	11	10	5	1	1	0	0	0	1	0	2	3	1	3	0	3	3	3	0	3	6	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:75856965C>A	ENST00000211998.4	+	13	1841	c.1747C>A	c.(1747-1749)Cta>Ata	p.L583I	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.L583I|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	583	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TTTTAAGGATCTAAAAGCTCG	0.438													16	94					1.52009e-12	1.7322e-12	1	0	A	75856965	C	A	75856965	3	1	141	1	0	0	0	0	1	0	0	0	17235	912	32	2	1797	2	VCL	10	75856965	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	14744815	75856965	59677782	103	26639											
VCL	7414	broad.mit.edu	37	chr10	75857067	75857067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtggcagccacggcgcctCctgatgcgcctaacagggaa	9	5	13	14	3	0	1	0	1	0	0	1	2	1	2	4	3	3	1	4	3	2	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:75857067C>T	ENST00000211998.4	+	13	1943	c.1849C>T	c.(1849-1851)Cct>Tct	p.P617S	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.P617S|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	617	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	p.P617S(1)	VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CACGGCGCCTCCTGATGCGCC	0.502													16	75					0	0	0	0	T	75857067	C	T	75857067	3	4	141	1	0	0	0	0	1	0	0	0	17235	855	30	2	1899	2	VCL	10	75857067	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	102	75857067	59677680	104	26640											
IFIT3	3437	broad.mit.edu	37	chr10	91099031	91099031	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctgagtcctgataacCaatacgtcaaggttctcttg	10	13	9	9	1	2	3	1	3	1	0	4	3	3	3	2	1	3	2	2	1	4	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:91099031C>T	ENST00000371818.4	+	2	799	c.619C>T	c.(619-621)Caa>Taa	p.Q207*	LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Nonsense_Mutation_p.Q207*|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	207					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TCCTGATAACCAATACGTCAA	0.453													11	33					0	0	0	0	T	91099031	C	T	91099031	4	4	141	1	0	0	0	0	0	1	0	0	7577	595	21	4	634	4	IFIT3	10	91099031	Nonsense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	15241964	91099031	44435716	105	26641											
BTRC	8945	broad.mit.edu	37	chr10	103190136	103190136	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtctctgtggctgggctgctCcagcctggcggacagcatgc	4	9	15	13	1	1	0	0	0	1	0	3	1	2	1	2	4	4	4	2	4	0	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:103190136C>G	ENST00000370187.3	+	2	201	c.83C>G	c.(82-84)tCc>tGc	p.S28C	BTRC_ENST00000408038.2_Intron|BTRC_ENST00000393441.4_Missense_Mutation_p.S13C	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTGGGCTGCTCCAGCCTGGCG	0.537													3	31					0	0	0	0	G	103190136	C	G	103190136	3	3	141	1	0	0	0	0	1	0	0	0	1578	855	30	2	89	2	BTRC	10	103190136	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	12091105	103190136	32344611	106	26642											
FGF8	2253	broad.mit.edu	37	chr10	103530279	103530279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccggcccttgcgggtgaagGccatgtaccagccctcgtac	6	7	13	15	3	0	1	0	1	0	0	1	1	0	1	5	3	4	2	5	3	3	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:103530279G>A	ENST00000347978.2	-	5	624	c.455C>T	c.(454-456)gCc>gTc	p.A152V	FGF8_ENST00000320185.2_Missense_Mutation_p.A181V|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Missense_Mutation_p.A141V|FGF8_ENST00000344255.3_Missense_Mutation_p.A170V	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	170					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GCGGGTGAAGGCCATGTACCA	0.632													9	36					0	0	0	0	A	103530279	G	A	103530279	3	1	141	1	0	0	0	0	1	0	0	0	5903	1203	42	4	196	4	FGF8	10	103530279	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	340143	103530279	32004468	107	26643											
TRIM5	85363	broad.mit.edu	37	chr11	5686482	5686482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgagagcccaggatgcCagtacaataattgaaattca	15	10	8	8	0	1	2	1	2	0	1	1	4	1	3	2	1	3	1	2	1	4	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:5686482C>A	ENST00000305836.5	-	8	1341	c.1039G>T	c.(1039-1041)Ggc>Tgc	p.G347C	TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Missense_Mutation_p.G347C			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	347	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCCAGGATGCCAGTACAATAA	0.453													4	112					0.00909568	0.00932402	1	0	A	5686482	C	A	5686482	3	1	141	1	0	0	0	0	1	0	0	0	16620	594	21	4	536	4	TRIM5	11	5686482	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08		5686482	129320034	108	26644											
SYT9	143425	broad.mit.edu	37	chr11	7324466	7324466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggagaacagtgaggaCttcctagatcctcccacgcc	11	6	11	13	1	0	3	0	1	0	2	3	6	3	4	4	2	2	1	4	2	2	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:7324466C>T	ENST00000318881.6	+	2	579	c.342C>T	c.(340-342)gaC>gaT	p.D114D	SYT9_ENST00000396716.2_Silent_p.D82D	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	114						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ACAGTGAGGACTTCCTAGATC	0.577													15	49					0	0	0	0	T	7324466	C	T	7324466	2	4	141	1	0	0	0	0	0	0	0	1	15572	564	20	4		4	SYT9	11	7324466	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	1637984	7324466	127682050	109	26645											
SLC6A5	9152	broad.mit.edu	37	chr11	20658775	20658775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgagtttcccaagtacctaCgcacacacaagccagtgttt	12	9	7	13	2	0	0	0	0	0	0	1	1	1	0	3	0	3	4	3	0	4	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:20658775C>T	ENST00000525748.1	+	12	2068	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	599					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CAAGTACCTACGCACACACAA	0.483													25	51					0	0	0	0	T	20658775	C	T	20658775	3	4	141	1	0	0	0	0	1	0	0	0	14775	536	19	1	1841	1	SLC6A5	11	20658775	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	13334309	20658775	114347741	110	26646											
LGR4	55366	broad.mit.edu	37	chr11	27389780	27389780	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacaaccaccttggctactGatggaaactgaaactgatcc	14	8	8	11	0	0	4	0	3	0	1	1	5	1	5	3	2	4	1	3	2	4	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:27389780G>A	ENST00000379214.4	-	18	2933	c.2490C>T	c.(2488-2490)atC>atT	p.I830I	LGR4_ENST00000389858.4_Silent_p.I806I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	830						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CTTGGCTACTGATGGAAACTG	0.448													29	142					0	0	0	0	A	27389780	G	A	27389780	2	1	141	1	0	0	0	0	0	0	0	1	8810	1280	45	2		2	LGR4	11	27389780	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	6731005	27389780	107616736	111	26647											
PACSIN3	29763	broad.mit.edu	37	chr11	47200778	47200778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccagcgcagatcctcttCgtcactggctgcctcaatgc	7	9	8	17	2	3	1	2	0	1	1	5	1	4	1	4	1	3	2	4	1	1	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:47200778C>T	ENST00000539589.1	-	8	1174	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	PACSIN3_ENST00000298838.6_Missense_Mutation_p.E278K	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	278					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						AGATCCTCTTCGTCACTGGCT	0.612													51	109					0	0	0	0	T	47200778	C	T	47200778	3	4	141	1	0	0	0	0	1	0	0	0	11447	893	31	1	458	1	PACSIN3	11	47200778	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	19810998	47200778	87805738	112	26648											
UBE2L6	9246	broad.mit.edu	37	chr11	57319916	57319916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctgtgtcagcaggtcaGcgaggtccatccgcaggggc	7	8	15	11	2	3	0	2	0	1	0	5	2	5	0	2	4	2	2	2	4	0	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:57319916G>A	ENST00000340573.4	-	4	785	c.179C>T	c.(178-180)gCt>gTt	p.A60V	UBE2L6_ENST00000287156.4_Missense_Mutation_p.A126V	NM_198183.2	NP_937826.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	126					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						CAGCAGGTCAGCGAGGTCCAT	0.572													36	166					0	0	0	0	A	57319916	G	A	57319916	3	1	141	1	0	0	0	0	1	0	0	0	16960	971	34	4	88	4	UBE2L6	11	57319916	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	10119138	57319916	77686600	113	26649											
BACE1	23621	broad.mit.edu	37	chr11	117161343	117161343	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaacagtcgtcttgggaCgtggccacatcttccactgg	7	12	11	11	2	2	0	0	0	2	0	4	1	3	1	2	3	1	1	2	3	1	4	rs75519595	by1000genomes	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:117161343C>T	ENST00000313005.6	-	8	1585	c.1125G>A	c.(1123-1125)acG>acA	p.T375T	BACE1_ENST00000428381.2_Silent_p.T306T|BACE1_ENST00000445823.2_Silent_p.T331T|BACE1_ENST00000528053.1_Silent_p.T341T|BACE1_ENST00000510630.1_Silent_p.T250T|BACE1_ENST00000513780.1_Silent_p.T350T|BACE1_ENST00000392937.6_Silent_p.T275T	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	375					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CGTCTTGGGACGTGGCCACAT	0.532													8	17					0	0	0	0	T	117161343	C	T	117161343	2	4	141	1	0	0	0	0	0	0	0	1	1285	523	19	1		1	BACE1	11	117161343	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	59841427	117161343	17845173	114	26650											
DDX6	1656	broad.mit.edu	37	chr11	118630664	118630664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactaagagggaaagtagcGgaatatagtaaaatctgcct	17	8	10	6	1	1	1	0	0	1	1	1	3	1	3	1	2	2	2	1	2	8	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:118630664G>A	ENST00000264018.4	-	8	1136	c.831C>T	c.(829-831)tcC>tcT	p.S277S	DDX6_ENST00000526070.2_Silent_p.S277S|DDX6_ENST00000534980.1_Silent_p.S277S	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	277	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GGAAAGTAGCGGAATATAGTA	0.383			T	IGH@	B-NHL								17	33					0	0	0	0	A	118630664	G	A	118630664	2	1	141	1	0	0	0	0	0	0	0	1	4409	1103	39	1		1	DDX6	11	118630664	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	1469321	118630664	16375852	115	26651											
ARHGAP32	9743	broad.mit.edu	37	chr11	128846491	128846491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagagatgtaagagactcctCacttttagctgaacggaggg	12	9	13	7	1	1	3	1	1	0	2	2	7	2	4	1	2	2	2	1	2	3	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:128846491C>G	ENST00000310343.9	-	19	2118	c.2119G>C	c.(2119-2121)Gag>Cag	p.E707Q	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E358Q|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E358Q|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.E633Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	707					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGAGACTCCTCACTTTTAGCT	0.363													17	77					0	0	0	0	G	128846491	C	G	128846491	3	3	141	1	0	0	0	0	1	0	0	0	883	835	29	2	4160	2	ARHGAP32	11	128846491	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	10215827	128846491	6160025	116	26652											
ACAD8	27034	broad.mit.edu	37	chr11	134128424	134128424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagcatgtgtgcctggatGattgatagcttcggaaatga	11	12	12	6	1	1	3	1	3	0	0	2	5	1	5	1	2	3	2	1	2	2	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:134128424G>A	ENST00000281182.4	+	4	502	c.396G>A	c.(394-396)atG>atA	p.M132I	ACAD8_ENST00000537423.1_Missense_Mutation_p.M55I|ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000543332.1_Missense_Mutation_p.M34I|ACAD8_ENST00000374752.4_Intron	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	132					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		GTGCCTGGATGATTGATAGCT	0.433													10	18					0	0	0	0	A	134128424	G	A	134128424	3	1	141	1	0	0	0	0	1	0	0	0	110	1290	45	2	410	2	ACAD8	11	134128424	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	5281933	134128424	878092	117	26653											
CD163L1	283316	broad.mit.edu	37	chr12	7526210	7526210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagctctctgtttcagtttCactgtagagcctcaaggctg	8	13	9	11	0	4	1	3	0	1	1	5	1	4	1	1	1	2	5	1	1	2	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:7526210C>T	ENST00000313599.3	-	14	3493	c.3436G>A	c.(3436-3438)Gaa>Aaa	p.E1146K	CD163L1_ENST00000396630.1_Missense_Mutation_p.E1146K|CD163L1_ENST00000416109.2_Missense_Mutation_p.E1156K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1146	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTTTCAGTTTCACTGTAGAGC	0.458													26	179					0	0	0	0	T	7526210	C	T	7526210	3	4	141	1	0	0	0	0	1	0	0	0	2997	835	29	2	949	2	CD163L1	12	7526210	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08		7526210	126325685	118	26654											
SLCO1B3	28234	broad.mit.edu	37	chr12	21015468	21015468	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acattgatgattttgcaaaaGaaggacattcttccttgtat	13	15	7	6	0	1	3	0	2	1	1	2	4	2	4	1	1	1	2	1	1	4	7			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:21015468G>C	ENST00000381545.3	+	7	823	c.604G>C	c.(604-606)Gaa>Caa	p.E202Q	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E202Q|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.E202Q|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E202Q	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	202					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTTTGCAAAAGAAGGACATTC	0.353													8	42					0	0	0	0	C	21015468	G	C	21015468	3	2	141	1	0	0	0	0	1	0	0	0	14812	943	33	2	622	2	SLCO1B3	12	21015468	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	13489258	21015468	112836427	119	26655											
CCDC91	55297	broad.mit.edu	37	chr12	28458663	28458663	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccattggctgcctctcttCtgatgccattatttcatcac	6	17	5	13	0	4	1	2	1	2	0	6	1	5	1	3	1	2	1	3	1	1	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:28458663C>G	ENST00000545336.1	+	7	610	c.191C>G	c.(190-192)tCt>tGt	p.S64C	CCDC91_ENST00000306172.5_Missense_Mutation_p.S34C|CCDC91_ENST00000381259.1_Missense_Mutation_p.S64C|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.S64C|CCDC91_ENST00000539107.1_Missense_Mutation_p.S64C			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	64					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TGCCTCTCTTCTGATGCCATT	0.393													34	136					0	0	0	0	G	28458663	C	G	28458663	3	3	141	1	0	0	0	0	1	0	0	0	2897	913	32	2	201	2	CCDC91	12	28458663	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	7443195	28458663	105393232	120	26656											
TMTC1	83857	broad.mit.edu	37	chr12	29920863	29920863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataggatgtacagcaaaaaGcaatgccgttacaaaagcaa	20	6	8	7	1	0	0	0	0	0	0	0	1	0	1	1	1	6	5	1	1	10	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:29920863G>C	ENST00000256062.5	-	2	597	c.124C>G	c.(124-126)Ctt>Gtt	p.L42V	TMTC1_ENST00000551659.1_Missense_Mutation_p.L150V|TMTC1_ENST00000552618.1_Missense_Mutation_p.L150V|TMTC1_ENST00000381224.2_Missense_Mutation_p.L42V|TMTC1_ENST00000539277.1_Missense_Mutation_p.L150V	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	150						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ACAGCAAAAAGCAATGCCGTT	0.363													11	36					0	0	0	0	C	29920863	G	C	29920863	3	2	141	1	0	0	0	0	1	0	0	0	16354	971	34	4	2268	4	TMTC1	12	29920863	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	1462200	29920863	103931032	121	26657											
DGKA	1606	broad.mit.edu	37	chr12	56334131	56334131	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtgcgaggaggctgtGagtccgggcgctgcgaccgc	4	7	20	10	5	0	1	0	1	0	0	1	4	1	2	2	4	2	2	2	4	0	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:56334131G>T	ENST00000331886.5	+	11	1286	c.832G>T	c.(832-834)Gag>Tag	p.E278*	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Nonsense_Mutation_p.E278*|DGKA_ENST00000394147.1_Nonsense_Mutation_p.E278*	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	278					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	AGGAGGCTGTGAGTCCGGGCG	0.597											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	89					1.56452e-12	1.77458e-12	1	0	T	56334131	G	T	56334131	4	4	141	1	0	0	0	0	0	1	0	0	4502	1291	45	2	870	2	DGKA	12	56334131	Nonsense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	26413268	56334131	77517764	122	26658											
ERBB3	2065	broad.mit.edu	37	chr12	56486845	56486845	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caatttgacaaccattggagGcagaagcctctacaagtgag	14	8	10	9	0	1	3	0	2	1	1	1	4	1	4	2	2	3	1	2	2	5	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:56486845G>C	ENST00000267101.3	+	11	1699	c.1259G>C	c.(1258-1260)gGc>gCc	p.G420A	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.G361A	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	420					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACCATTGGAGGCAGAAGCCTC	0.468													7	24					0	0	0	0	C	56486845	G	C	56486845	3	2	141	1	0	0	0	0	1	0	0	0	5246	1203	42	4	1432	4	ERBB3	12	56486845	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	152714	56486845	77365050	123	26659											
FGD6	55785	broad.mit.edu	37	chr12	95501371	95501371	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcgaggttgcatcactttccGagacagcttcatcagaattc	10	12	8	11	2	3	2	3	0	0	2	6	4	4	2	1	1	2	3	1	1	1	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:95501371G>C	ENST00000343958.4	-	12	3524	c.3301C>G	c.(3301-3303)Cgg>Ggg	p.R1101G	FGD6_ENST00000549499.1_Missense_Mutation_p.R1101G|FGD6_ENST00000546711.1_Missense_Mutation_p.R1101G	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1101	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATCACTTTCCGAGACAGCTTC	0.418													9	37					0	0	0	0	C	95501371	G	C	95501371	3	2	141	1	0	0	0	0	1	0	0	0	5882	1057	37	3	1031	3	FGD6	12	95501371	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	39014526	95501371	38350524	124	26660											
RIC8B	55188	broad.mit.edu	37	chr12	107236437	107236437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatttgtccgttaacccatGaagaaacagcccaagaggca	14	8	8	11	1	1	3	1	1	0	2	2	3	2	3	3	1	3	2	3	1	4	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:107236437G>C	ENST00000392837.4	+	5	1058	c.907G>C	c.(907-909)Gaa>Caa	p.E303Q	RIC8B_ENST00000392839.2_Missense_Mutation_p.E303Q|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.E263Q			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	303					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GTTAACCCATGAAGAAACAGC	0.363													8	39					0	0	0	0	C	107236437	G	C	107236437	3	2	141	1	0	0	0	0	1	0	0	0	13439	1291	45	2	925	2	RIC8B	12	107236437	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	11735066	107236437	26615458	125	26661											
NCOR2	9612	broad.mit.edu	37	chr12	124839420	124839420	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggcaggggcagccccatGgtgacagggcccaccggggc	7	3	18	13	1	0	1	0	1	0	0	0	1	0	1	4	7	1	2	4	7	0	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:124839420G>A	ENST00000356219.3	-	26	3623	c.3468C>T	c.(3466-3468)acC>acT	p.T1156T	NCOR2_ENST00000429285.2_Silent_p.T1139T|NCOR2_ENST00000405201.1_Silent_p.T1149T|NCOR2_ENST00000404621.1_Silent_p.T1139T|NCOR2_ENST00000404121.2_Silent_p.T710T|NCOR2_ENST00000397355.1_Silent_p.T1140T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1157					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGCCCCATGGTGACAGGGC	0.672													11	48					0	0	0	0	A	124839420	G	A	124839420	2	1	141	1	0	0	0	0	0	0	0	1	10306	1335	47	4		4	NCOR2	12	124839420	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	17602983	124839420	9012475	126	26662											
TMEM132B	114795	broad.mit.edu	37	chr12	126139056	126139056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaaagaaattaaaaatgaaCctatgaattcttcgggccca	18	9	7	7	1	1	4	0	2	1	2	2	4	1	4	2	1	1	0	2	1	8	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:126139056C>T	ENST00000299308.3	+	9	3045	c.3037C>T	c.(3037-3039)Cct>Tct	p.P1013S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P525S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1013						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TAAAAATGAACCTATGAATTC	0.463													5	26					0	0	0	0	T	126139056	C	T	126139056	3	4	141	1	0	0	0	0	1	0	0	0	16140	507	18	4	3071	4	TMEM132B	12	126139056	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	1299636	126139056	7712839	127	26663											
TMEM132D	121256	broad.mit.edu	37	chr12	130185047	130185047	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcccgtagctggcattgagGacaggcagcctcctggattt	7	9	14	11	1	0	1	0	1	0	0	1	3	1	3	3	5	2	4	3	5	1	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:130185047G>A	ENST00000422113.2	-	2	602	c.276C>T	c.(274-276)gtC>gtT	p.V92V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	92						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGCATTGAGGACAGGCAGCC	0.502													7	27					0	0	0	0	A	130185047	G	A	130185047	2	1	141	1	0	0	0	0	0	0	0	1	16141	1161	41	2		2	TMEM132D	12	130185047	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	4045991	130185047	3666848	128	26664											
RAN	5901	broad.mit.edu	37	chr12	131359130	131359133	+	Frame_Shift_Del	DEL	TTAC	TTAC	-																															gtttgatgtaacatcgagagTtacttacaagaatgtgccta																										TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:131359130_131359133delTTAC	ENST00000543796.1	+	5	545_548	c.287_290delTTAC	c.(286-291)gtfs	p.VT96fs	RAN_ENST00000254675.3_Frame_Shift_Del_p.VT8fs|RAN_ENST00000392367.3_Frame_Shift_Del_p.VT113fs|RAN_ENST00000541630.1_Frame_Shift_Del_p.VT8fs|RAN_ENST00000392369.2_Frame_Shift_Del_p.VT96fs			P62826	RAN_HUMAN	RAN, member RAS oncogene family	96					androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		ACATCGAGAGTTACTTACAAGAAT	0.407													11	56	---	---	---	---					-	131359133	TTAC	-	131359130	7	5	141	1	0	1	0	1	0	0	0	0	13106	1725	60	0	301	0	RAN	12	131359130	Frame_Shift_Del	DEL	TTAC	TCGA-CQ-5334-01A-01D-1683-08	1174083	131359130	2492765	129	26665											
RASL11A	387496	broad.mit.edu	37	chr13	27845676	27845676	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagactatgaaccgaatacAggtgagaatactttcacgct	14	9	10	8	2	1	3	1	2	0	2	1	6	1	3	1	2	3	1	1	2	6	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:27845676A>G	ENST00000241463.4	+	2	798	c.181_splice	c.e2+1	p.T60_splice		NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	60	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		AACCGAATACAGGTGAGAATA	0.418											OREG0022312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	110					0	0	0	0	G	27845676	A	G	27845676	5	3	141	1	0	0	0	0	0	0	1	0	13163	202	7	5	186	5	RASL11A	13	27845676	Splice_Site	SNP	A	TCGA-CQ-5334-01A-01D-1683-08		27845676	87324202	130	26666											
N4BP2L1	90634	broad.mit.edu	37	chr13	32977300	32977300	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcataccgttctttcattcGgtggattttttctcttgaga	6	20	7	8	2	4	1	2	1	2	1	6	3	4	2	1	2	1	1	1	2	1	9			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:32977300G>A	ENST00000380130.2	-	5	606	c.511C>T	c.(511-513)Cga>Tga	p.R171*	N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.P168L|N4BP2L1_ENST00000530622.2_Nonsense_Mutation_p.R65*|N4BP2L1_ENST00000380133.2_Nonsense_Mutation_p.R171*	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	171					cell killing		ATP binding			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TCTTTCATTCGGTGGATTTTT	0.363													18	65					0	0	0	0	A	32977300	G	A	32977300	4	1	141	1	0	0	0	0	0	1	0	0	10181	1125	39	1	224	1	N4BP2L1	13	32977300	Nonsense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	5131624	32977300	82192578	131	26667											
CCNA1	8900	broad.mit.edu	37	chr13	37007189	37007189	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcccgtggagtctgAagcaatgcactgcagcaacc	11	5	12	13	1	1	1	0	1	1	0	1	2	1	2	2	1	7	6	2	1	3	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:37007189A>G	ENST00000418263.1	+	2	475	c.125A>G	c.(124-126)gAa>gGa	p.E42G	CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000440264.1_5'UTR|CCNA1_ENST00000449823.1_5'UTR|CCNA1_ENST00000255465.4_Missense_Mutation_p.E43G	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	43					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GTGGAGTCTGAAGCAATGCAC	0.587													21	87					0	0	0	0	G	37007189	A	G	37007189	3	3	141	1	0	0	0	0	1	0	0	0	2938	246	9	5	134	5	CCNA1	13	37007189	Missense_Mutation	SNP	A	TCGA-CQ-5334-01A-01D-1683-08	4029889	37007189	78162689	132	26668											
LMO7	4008	broad.mit.edu	37	chr13	76287355	76287355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaacaaaagattttcGagcctctctagaaaatggtg	14	13	8	6	1	1	3	0	1	1	2	3	4	1	3	1	1	2	0	1	1	6	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:76287355G>T	ENST00000357063.3	+	3	1523	c.263G>T	c.(262-264)cGa>cTa	p.R88L	LMO7_ENST00000377534.3_Missense_Mutation_p.R88L|LMO7_ENST00000341547.4_Missense_Mutation_p.R88L|RP11-29G8.3_ENST00000563635.1_RNA			Q8WWI1	LMO7_HUMAN	LIM domain 7	88	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGATTTTCGAGCCTCTCTA	0.343													4	31					2.56e-06	2.75088e-06	1	0	T	76287355	G	T	76287355	3	4	141	1	0	0	0	0	1	0	0	0	8910	1058	37	3	273	3	LMO7	13	76287355	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	39280166	76287355	38882523	133	26669											
MYO16	23026	broad.mit.edu	37	chr13	109496715	109496715	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctggtgttaccaattgcCaagcaagacagtttgttgga	10	11	10	10	0	0	1	0	0	0	1	0	2	0	2	4	2	3	4	4	2	4	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:109496715C>T	ENST00000356711.2	+	10	1182	c.1056C>T	c.(1054-1056)gcC>gcT	p.A352A	MYO16_ENST00000251041.5_Silent_p.A352A|MYO16_ENST00000357550.2_Silent_p.A352A	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	352					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TACCAATTGCCAAGCAAGACA	0.378													6	42					0	0	0	0	T	109496715	C	T	109496715	2	4	141	1	0	0	0	0	0	0	0	1	10134	581	21	4		4	MYO16	13	109496715	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	33209360	109496715	5673163	134	26670											
OR11H6	122748	broad.mit.edu	37	chr14	20692052	20692052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacactgctagggaatggaGctattgtctgtgcagtgaaa	11	11	13	6	0	1	2	0	2	1	0	1	4	1	4	0	2	3	3	0	2	4	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:20692052G>C	ENST00000315519.2	+	1	262	c.184G>C	c.(184-186)Gct>Cct	p.A62P		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		AGGGAATGGAGCTATTGTCTG	0.488													3	110					0	0	0	0	C	20692052	G	C	20692052	3	2	141	1	0	0	0	0	1	0	0	0	11000	971	34	4	186	4	OR11H6	14	20692052	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08		20692052	86657488	135	26671											
DHRS2	10202	broad.mit.edu	37	chr14	24108117	24108117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaccagggctggtttcatcCctgtgctaggctttctgtga	5	14	11	11	0	2	1	1	1	1	0	3	1	3	1	2	3	2	4	2	3	2	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:24108117C>T	ENST00000250383.6	+	2	520	c.44C>T	c.(43-45)cCc>cTc	p.P15L	DHRS2_ENST00000344777.7_Missense_Mutation_p.P15L|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	0					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		TGGTTTCATCCCTGTGCTAGG	0.582													43	74					0	0	0	0	T	24108117	C	T	24108117	3	4	141	1	0	0	0	0	1	0	0	0	4527	623	22	4	46	4	DHRS2	14	24108117	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	3416065	24108117	83241423	136	26672											
HECTD1	25831	broad.mit.edu	37	chr14	31588931	31588931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtacctgggggtggtatttCtagatcagttgtctgctgga	6	15	14	6	0	3	1	1	0	2	1	3	2	3	2	1	4	2	4	1	4	3	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:31588931C>G	ENST00000399332.1	-	29	5868	c.5380G>C	c.(5380-5382)Gaa>Caa	p.E1794Q	HECTD1_ENST00000553700.1_Missense_Mutation_p.E1794Q	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1794					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GGTGGTATTTCTAGATCAGTT	0.378													19	51					0	0	0	0	G	31588931	C	G	31588931	3	3	141	1	0	0	0	0	1	0	0	0	7089	922	32	2	2512	2	HECTD1	14	31588931	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	7480814	31588931	75760609	137	26673											
SYNE2	23224	broad.mit.edu	37	chr14	64560106	64560106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaatgggatgaagaaataGaaaatttgaaacagatctta	20	10	9	2	0	1	6	0	3	1	3	1	7	1	7	0	1	1	0	0	1	8	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:64560106G>A	ENST00000357395.3	+	62	12315	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	SYNE2_ENST00000358025.3_Missense_Mutation_p.E4006K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E640K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4039K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E391K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E4006K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4006					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAGAAATAGAAAATTTGAA	0.343													32	60					0	0	0	0	A	64560106	G	A	64560106	3	1	141	1	0	0	0	0	1	0	0	0	15537	943	33	2	12254	2	SYNE2	14	64560106	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	32971175	64560106	42789434	138	26674											
EIF2S1	1965	broad.mit.edu	37	chr14	67850070	67850070	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagatgagactgaacttgcGaggcagatggagaggcttga	13	7	15	6	1	0	6	0	3	0	4	0	9	0	6	0	3	2	2	0	3	1	2	rs55950335		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:67850070G>A	ENST00000256383.4	+	8	1322	c.861G>A	c.(859-861)gcG>gcA	p.A287A	EIF2S1_ENST00000466499.2_Silent_p.A287A	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	287						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		CTGAACTTGCGAGGCAGATGG	0.398													4	35					0	0	0	0	A	67850070	G	A	67850070	2	1	141	1	0	0	0	0	0	0	0	1	5045	1045	37	1		1	EIF2S1	14	67850070	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	3289964	67850070	39499470	139	26675											
AHSA1	10598	broad.mit.edu	37	chr14	77930945	77930945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttatcttttcagagttCacccagggcatgatcttacc	10	15	6	10	0	4	2	2	1	2	1	4	2	4	2	2	1	1	2	2	1	3	6			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:77930945C>A	ENST00000216479.3	+	5	637	c.477C>A	c.(475-477)ttC>ttA	p.F159L	AHSA1_ENST00000535854.2_Missense_Mutation_p.F159L|AHSA1_ENST00000555457.1_Intron	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	159					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TTTCAGAGTTCACCCAGGGCA	0.458													13	25					5.50884e-06	5.84271e-06	1	0	A	77930945	C	A	77930945	3	1	141	1	0	0	0	0	1	0	0	0	418	825	29	2	495	2	AHSA1	14	77930945	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	10080875	77930945	29418595	140	26676											
CLMN	79789	broad.mit.edu	37	chr14	95677035	95677035	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgctaccttctggctccaGgagcctggggatgtgcaggg	6	9	15	11	0	1	0	0	0	1	0	2	2	2	2	3	5	4	3	3	5	1	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:95677035G>A	ENST00000298912.4	-	7	903	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	264	Actin-binding.|CH 2.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCTGGCTCCAGGAGCCTGGGG	0.458													7	85					0	0	0	0	A	95677035	G	A	95677035	2	1	141	1	0	0	0	0	0	0	0	1	3572	991	35	4		4	CLMN	14	95677035	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	17746090	95677035	11672505	141	26677											
EIF5	1983	broad.mit.edu	37	chr14	103802212	103802212	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaaaatgtctgtcaatgtCaaccgcagcgtgtcagacca	12	8	9	12	2	4	1	3	0	1	1	4	1	4	1	3	0	2	1	3	0	4	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:103802212C>G	ENST00000216554.3	+	3	691	c.15C>G	c.(13-15)gtC>gtG	p.V5V	EIF5_ENST00000560200.1_3'UTR|EIF5_ENST00000392715.2_Silent_p.V5V|EIF5_ENST00000558506.1_Silent_p.V5V	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	5					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CTGTCAATGTCAACCGCAGCG	0.403													31	102					0	0	0	0	G	103802212	C	G	103802212	2	3	141	1	0	0	0	0	0	0	0	1	5078	813	29	2		2	EIF5	14	103802212	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	8125177	103802212	3547328	142	26678											
PACS2	23241	broad.mit.edu	37	chr14	105849196	105849196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccgtggtgtgcacgtgctCtcctgcggacgtccaggcgg	3	8	15	15	5	1	0	0	0	1	0	3	1	2	1	4	4	3	2	4	4	0	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:105849196C>T	ENST00000447393.1	+	15	1746	c.1571C>T	c.(1570-1572)tCt>tTt	p.S524F	PACS2_ENST00000458164.2_Missense_Mutation_p.S524F|PACS2_ENST00000547217.1_Missense_Mutation_p.S490F|PACS2_ENST00000325438.8_Missense_Mutation_p.S520F|PACS2_ENST00000430725.2_Missense_Mutation_p.S445F	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	520					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGCACGTGCTCTCCTGCGGAC	0.637													5	17					0	0	0	0	T	105849196	C	T	105849196	3	4	141	1	0	0	0	0	1	0	0	0	11444	913	32	2	1629	2	PACS2	14	105849196	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	2046984	105849196	1500344	143	26679											
MKRN3	7681	broad.mit.edu	37	chr15	23811463	23811463	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctcggctgctgaaaggggTttctttgaagccgagagaga	9	9	16	7	2	1	4	0	2	1	2	2	6	1	4	1	4	2	4	1	4	2	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:23811463T>G	ENST00000314520.3	+	1	1010	c.534T>G	c.(532-534)ggT>ggG	p.G178G	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	178						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGAAAGGGGTTTCTTTGAAG	0.612													4	22					0	0	0	0	G	23811463	T	G	23811463	2	3	141	1	0	0	0	0	0	0	0	1	9677	1712	60	5		5	MKRN3	15	23811463	Silent	SNP	T	TCGA-CQ-5334-01A-01D-1683-08		23811463	78719929	144	26680											
PGBD4	161779	broad.mit.edu	37	chr15	34395158	34395158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtccgaaaggattttcGcgaatggataaatggaaaga	14	8	13	6	4	0	1	0	0	0	1	2	6	1	4	2	4	0	0	2	4	5	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:34395158G>A	ENST00000397766.2	+	1	885	c.426G>A	c.(424-426)tcG>tcA	p.S142S		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	142										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AAGGATTTTCGCGAATGGATA	0.413													18	61					0	0	0	0	A	34395158	G	A	34395158	2	1	141	1	0	0	0	0	0	0	0	1	11855	1074	38	1		1	PGBD4	15	34395158	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	10583695	34395158	68136234	145	26681											
MAPK6	5597	broad.mit.edu	37	chr15	52356502	52356502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaatctgataagaaaGgcaaatcaaaatgtgaaagg	23	6	9	3	0	2	4	1	2	1	2	2	4	2	4	0	2	0	1	0	2	9	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:52356502G>A	ENST00000261845.5	+	6	2278	c.1471G>A	c.(1471-1473)Ggc>Agc	p.G491S	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	491					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TGATAAGAAAGGCAAATCAAA	0.383													5	21					0	0	0	0	A	52356502	G	A	52356502	3	1	141	1	0	0	0	0	1	0	0	0	9350	1000	35	4	1489	4	MAPK6	15	52356502	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	17961344	52356502	50174890	146	26682											
ITGA11	22801	broad.mit.edu	37	chr15	68695271	68695271	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcaccacttattgccactGatgtcgtgctgctgcactgt	7	13	8	13	1	1	1	1	1	0	0	2	1	1	1	2	0	4	3	2	0	1	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:68695271G>C	ENST00000423218.2	-	2	245	c.150C>G	c.(148-150)atC>atG	p.I50M	ITGA11_ENST00000315757.7_Missense_Mutation_p.I50M			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	50					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TATTGCCACTGATGTCGTGCT	0.632													4	11					0	0	0	0	C	68695271	G	C	68695271	3	2	141	1	0	0	0	0	1	0	0	0	7927	1280	45	2	3532	2	ITGA11	15	68695271	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	16338769	68695271	33836121	147	26683											
PAQR5	54852	broad.mit.edu	37	chr15	69689821	69689821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaggtttcttgaaatccAgaagcccagactctgtaagg	12	12	9	8	0	2	3	0	1	2	2	3	3	3	3	2	2	1	2	2	2	4	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:69689821A>G	ENST00000340965.3	+	7	1195	c.527A>G	c.(526-528)cAg>cGg	p.Q176R	RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.Q176R|PAQR5_ENST00000561153.1_Missense_Mutation_p.Q176R|RP11-253M7.1_ENST00000558617.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	176					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CTTGAAATCCAGAAGCCCAGA	0.507													8	62					0	0	0	0	G	69689821	A	G	69689821	3	3	141	1	0	0	0	0	1	0	0	0	11509	188	7	5	545	5	PAQR5	15	69689821	Missense_Mutation	SNP	A	TCGA-CQ-5334-01A-01D-1683-08	994550	69689821	32841571	148	26684											
PML	5371	broad.mit.edu	37	chr15	74328369	74328369	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcctcctccagcccatgctCttacaggccctgcacagagt	7	9	8	17	0	1	1	0	0	1	1	3	1	3	1	5	1	5	2	5	1	1	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:74328369C>G	ENST00000395132.2	+	5	1372	c.1276C>G	c.(1276-1278)Ctt>Gtt	p.L426V	PML_ENST00000354026.6_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000268058.3_Intron|PML_ENST00000268059.6_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000563500.1_3'UTR	NM_033247.2	NP_150250.2	P29590	PML_HUMAN	promyelocytic leukemia	425					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						agcccatgctcttacaggccc	0.567			T	"RARA, PAX5"	"APL, ALL"								57	252					0	0	0	0	G	74328369	C	G	74328369	3	3	141	1	0	0	0	0	1	0	0	0	12207	913	32	2	2680	2	PML	15	74328369	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	4638548	74328369	28203023	149	26685											
ACAN	176	broad.mit.edu	37	chr15	89400924	89400924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtgagctggacattaGtgggagagctagtggactcc	9	9	14	9	0	0	2	0	1	0	1	2	5	2	4	2	3	2	2	2	3	2	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:89400924G>A	ENST00000439576.2	+	12	5482	c.5108G>A	c.(5107-5109)aGt>aAt	p.S1703N	ACAN_ENST00000559004.1_Missense_Mutation_p.S1703N|ACAN_ENST00000352105.7_Missense_Mutation_p.S1703N|ACAN_ENST00000561243.1_Missense_Mutation_p.S1703N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1703					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGACATTAGTGGGAGAGCT	0.537													5	172					0	0	0	0	A	89400924	G	A	89400924	3	1	141	1	0	0	0	0	1	0	0	0	117	1029	36	4	5150	4	ACAN	15	89400924	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	15072555	89400924	13130468	150	26686											
CRTC3	64784	broad.mit.edu	37	chr15	91181798	91181798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctcctgcagcagcccCgcgcccctgaggcccctgcc	4	4	10	23	2	0	1	0	1	0	0	1	1	1	1	10	1	5	2	10	1	0	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:91181798C>T	ENST00000420329.2	+	12	1534	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.R463C	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	463					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCAGCAGCCCCGCGCCCCTGA	0.672			T	MAML2	salivary gland mucoepidermoid								15	56					0	0	0	0	T	91181798	C	T	91181798	3	4	141	1	0	0	0	0	1	0	0	0	3931	652	23	1	1433	1	CRTC3	15	91181798	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	1780874	91181798	11349594	151	26687											
IGF1R	3480	broad.mit.edu	37	chr15	99251204	99251204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtccaataactacattGtggggaataagcccccaaag	13	8	10	10	1	0	0	0	0	0	0	1	1	1	1	3	3	3	0	3	3	6	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:99251204G>T	ENST00000268035.6	+	2	1119	c.508G>T	c.(508-510)Gtg>Ttg	p.V170L	IGF1R_ENST00000558762.1_Missense_Mutation_p.V170L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	170					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TAACTACATTGTGGGGAATAA	0.517													9	95					7.48243e-07	8.07575e-07	1	0	T	99251204	G	T	99251204	3	4	141	1	0	0	0	0	1	0	0	0	7624	1377	48	4	514	4	IGF1R	15	99251204	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	8069406	99251204	3280188	152	26688											
UBN1	29855	broad.mit.edu	37	chr16	4909145	4909145	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttcattaaagaaaagaaGaaaaaatctccaaaggttag	21	8	7	5	0	2	3	1	0	1	3	3	4	2	3	1	1	0	1	1	1	10	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:4909145G>C	ENST00000396658.4	+	4	1255	c.552G>C	c.(550-552)aaG>aaC	p.K184N	UBN1_ENST00000262376.6_Missense_Mutation_p.K184N|UBN1_ENST00000545171.1_Missense_Mutation_p.K184N|UBN1_ENST00000590769.1_Missense_Mutation_p.K184N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	184	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAGAAAAGAAGAAAAAATCTC	0.393													18	43					0	0	0	0	C	4909145	G	C	4909145	3	2	141	1	0	0	0	0	1	0	0	0	16988	933	33	2	566	2	UBN1	16	4909145	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08		4909145	85445608	153	26689											
OTOA	146183	broad.mit.edu	37	chr16	21698871	21698871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccctggagtgtgtggagatCctgggcaaggtgctgagggg	6	9	19	7	0	0	2	0	1	0	1	2	4	2	3	2	6	1	2	2	6	1	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:21698871C>T	ENST00000388958.3	+	7	538	c.537C>T	c.(535-537)atC>atT	p.I179I	OTOA_ENST00000286149.4_Silent_p.I179I|OTOA_ENST00000388956.4_Silent_p.I100I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	179					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTGTGGAGATCCTGGGCAAGG	0.592													9	43					0	0	0	0	T	21698871	C	T	21698871	2	4	141	1	0	0	0	0	0	0	0	1	11373	845	30	2		2	OTOA	16	21698871	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	16789726	21698871	68655882	154	26690											
PPP4C	5531	broad.mit.edu	37	chr16	30093814	30093814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgttccccaggtgtgcggcGacatccatggacaattctat	8	11	10	12	2	1	0	0	0	1	0	3	2	3	1	3	3	1	1	3	3	2	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:30093814G>A	ENST00000279387.7	+	4	328	c.160G>A	c.(160-162)Gac>Aac	p.D54N	PPP4C_ENST00000561610.1_Missense_Mutation_p.D54N	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	54					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GGTGTGCGGCGACATCCATGG	0.522													4	45					0	0	0	0	A	30093814	G	A	30093814	3	1	141	1	0	0	0	0	1	0	0	0	12478	1058	37	1	170	1	PPP4C	16	30093814	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	8394943	30093814	60260939	155	26691											
NOD2	64127	broad.mit.edu	37	chr16	50745595	50745595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtgcgtgccaaaggtgtCgtgccagggagtacggcgcc	6	7	17	11	4	0	0	0	0	0	0	1	1	0	1	3	4	4	1	3	4	2	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:50745595C>T	ENST00000300589.2	+	4	1878	c.1773C>T	c.(1771-1773)gtC>gtT	p.V591V		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	591	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCAAAGGTGTCGTGCCAGGGA	0.577													5	21					0	0	0	0	T	50745595	C	T	50745595	2	4	141	1	0	0	0	0	0	0	0	1	10587	871	31	1		1	NOD2	16	50745595	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	20651781	50745595	39609158	156	26692											
CETP	1071	broad.mit.edu	37	chr16	57015105	57015105	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccaggcctcctattctaaGaaaaagctcttcttaagcct	11	12	6	12	0	3	1	0	0	3	1	5	1	5	1	4	1	2	1	4	1	5	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:57015105G>C	ENST00000200676.3	+	12	1312	c.1182G>C	c.(1180-1182)aaG>aaC	p.K394N	CETP_ENST00000379780.2_Missense_Mutation_p.K334N|CETP_ENST00000566128.1_Missense_Mutation_p.K329N	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	394					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	p.K394N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CCTATTCTAAGAAAAAGCTCT	0.537													21	65					0	0	0	0	C	57015105	G	C	57015105	3	2	141	1	0	0	0	0	1	0	0	0	3306	933	33	2	1228	2	CETP	16	57015105	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	6269510	57015105	33339648	157	26693											
CES2	8824	broad.mit.edu	37	chr16	66973244	66973244	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacgccggcccatagccatGaaggctctaacctgccggtg	9	6	11	15	3	1	1	0	1	1	0	1	1	1	1	5	3	3	1	5	3	3	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:66973244G>C	ENST00000317091.4	+	3	1582	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q	CES2_ENST00000417689.1_Missense_Mutation_p.E200Q	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	136					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CCATAGCCATGAAGGCTCTAA	0.542													25	88					0	0	0	0	C	66973244	G	C	66973244	3	2	141	1	0	0	0	0	1	0	0	0	3299	1291	45	2	608	2	CES2	16	66973244	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	9958139	66973244	23381509	158	26694											
LRRC36	55282	broad.mit.edu	37	chr16	67418858	67418858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaagcgctcctgcctcctGagaagggtcatcatctgggg	8	8	14	11	1	3	1	2	1	1	1	5	3	5	2	3	4	2	1	3	4	2	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:67418858G>A	ENST00000329956.6	+	14	2150	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K	LRRC36_ENST00000290940.7_3'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.E590K|LRRC36_ENST00000435835.3_Missense_Mutation_p.E486K|LRRC36_ENST00000541146.1_Missense_Mutation_p.E183K	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	711										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CCTGCCTCCTGAGAAGGGTCA	0.517													13	44					0	0	0	0	A	67418858	G	A	67418858	3	1	141	1	0	0	0	0	1	0	0	0	9054	1291	45	2	2213	2	LRRC36	16	67418858	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	445614	67418858	22935895	159	26695											
CTCF	10664	broad.mit.edu	37	chr16	67650751	67650751	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacgagaagccattcaaGtgttccatgtgcgattacgc	11	9	9	12	3	1	1	1	0	0	1	2	3	2	1	3	0	3	1	3	0	3	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:67650751G>A	ENST00000264010.4	+	5	1500	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	CTCF_ENST00000401394.1_Silent_p.K24K	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	352					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCATTCAAGTGTTCCATGT	0.463													16	181					0	0	0	0	A	67650751	G	A	67650751	2	1	141	1	0	0	0	0	0	0	0	1	4032	1020	36	4		4	CTCF	16	67650751	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	231893	67650751	22704002	160	26696											
CTCF	10664	broad.mit.edu	37	chr16	67655479	67655479	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtgacacagtcatagccCgaaaaagtgatttgggtaag	14	9	11	7	1	1	2	1	2	0	0	1	3	1	2	1	1	1	1	1	1	4	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:67655479C>T	ENST00000264010.4	+	7	1786	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.R120*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	448			R -> Q (in a Wilms' tumor).		chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.R448*(3)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGTCATAGCCCGAAAAAGTGA	0.368													5	25					0	0	0	0	T	67655479	C	T	67655479	4	4	141	1	0	0	0	0	0	1	0	0	4032	644	23	1	1360	1	CTCF	16	67655479	Nonsense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	4728	67655479	22699274	161	26697											
SMPD3	55512	broad.mit.edu	37	chr16	68405851	68405851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaagagaaagccgagaaaCgcaaagggcagcgaggccac	17	0	14	10	3	0	3	0	0	0	3	0	6	0	3	2	2	3	2	2	2	4	0	rs147838351		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:68405851C>T	ENST00000219334.5	-	3	837	c.234G>A	c.(232-234)gcG>gcA	p.A78A	SMPD3_ENST00000563226.1_Silent_p.A78A|SMPD3_ENST00000568373.1_Silent_p.A78A	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	78					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGCCGAGAAACGCAAAGGGCA	0.672													4	14					0	0	0	0	T	68405851	C	T	68405851	2	4	141	1	0	0	0	0	0	0	0	1	14894	523	19	1		1	SMPD3	16	68405851	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	750372	68405851	21948902	162	26698											
TMED6	146456	broad.mit.edu	37	chr16	69381705	69381705	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttacctcaattgcatccaGagtatcattcagttgttttc	9	16	5	11	0	3	1	3	0	0	1	5	1	4	1	3	0	2	4	3	0	3	7	rs117823350	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:69381705G>C	ENST00000288025.3	-	3	530	c.475C>G	c.(475-477)Ctg>Gtg	p.L159V	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Missense_Mutation_p.S151C	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	159					transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						ATTGCATCCAGAGTATCATTC	0.413													28	149					0	0	0	0	C	69381705	G	C	69381705	3	2	141	1	0	0	0	0	1	0	0	0	16102	933	33	2	255	2	TMED6	16	69381705	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	975854	69381705	20973048	163	26699											
TMED6	146456	broad.mit.edu	37	chr16	69383442	69383442	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagacctgtctcttgggtaGagaagttaatctggccccga	10	10	11	10	1	2	2	0	0	2	2	3	4	2	2	3	2	0	2	3	2	3	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:69383442G>C	ENST00000288025.3	-	2	381	c.326C>G	c.(325-327)tCt>tGt	p.S109C	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Silent_p.L101L	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	109	GOLD.				transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						CTCTTGGGTAGAGAAGTTAAT	0.443													33	137					0	0	0	0	C	69383442	G	C	69383442	3	2	141	1	0	0	0	0	1	0	0	0	16102	942	33	2	408	2	TMED6	16	69383442	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	1737	69383442	20971311	164	26700											
ADAMTS18	170692	broad.mit.edu	37	chr16	77465453	77465453	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgttgtgcaaaatgtcGtgtgaaatatatgacccggc	10	11	11	9	3	0	2	0	2	0	0	1	2	0	2	2	1	2	2	2	1	5	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:77465453G>A	ENST00000282849.5	-	3	652	c.234C>T	c.(232-234)caC>caT	p.H78H	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	78					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCAAAATGTCGTGTGAAATAT	0.488													16	249					0	0	0	0	A	77465453	G	A	77465453	2	1	141	1	0	0	0	0	0	0	0	1	263	1136	40	1		1	ADAMTS18	16	77465453	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	8082011	77465453	12889300	165	26701											
SLC7A5	8140	broad.mit.edu	37	chr16	87874057	87874057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaggggttgatcatttcctCtgtgacgaaattcaagtaat	11	14	10	6	1	3	2	2	2	1	0	4	3	4	2	1	2	0	3	1	2	4	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:87874057C>T	ENST00000261622.4	-	4	858	c.793G>A	c.(793-795)Gag>Aag	p.E265K	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	265					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		ATCATTTCCTCTGTGACGAAA	0.423													10	66					0	0	0	0	T	87874057	C	T	87874057	3	4	141	1	0	0	0	0	1	0	0	0	14788	922	32	2	758	2	SLC7A5	16	87874057	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	10408604	87874057	2480696	166	26702											
RABEP1	9135	broad.mit.edu	37	chr17	5264712	5264712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgctggaaacctggaCgagtcagattttggaccact	12	10	10	9	1	2	1	1	0	1	1	2	5	2	4	2	3	2	1	2	3	2	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:5264712C>A	ENST00000262477.6	+	9	1529	c.1305C>A	c.(1303-1305)gaC>gaA	p.D435E	RABEP1_ENST00000408982.2_Missense_Mutation_p.D435E|RABEP1_ENST00000546142.2_Missense_Mutation_p.D435E|RABEP1_ENST00000341923.6_Missense_Mutation_p.D435E|RABEP1_ENST00000537505.1_Missense_Mutation_p.D392E|NUP88_ENST00000573169.1_5'UTR	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	435					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GAAACCTGGACGAGTCAGATT	0.468													8	45					5.18039e-06	5.51824e-06	1	0	A	5264712	C	A	5264712	3	1	141	1	0	0	0	0	1	0	0	0	13043	535	19	3	1339	3	RABEP1	17	5264712	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08		5264712	75930498	167	26703											
TP53	7157	broad.mit.edu	37	chr17	7578433	7578433	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacctccgtcatgtgctgtGactgcttgtagatggccatg	7	12	11	11	1	1	2	1	1	0	1	2	2	2	2	3	1	3	3	3	1	2	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:7578433G>C	ENST00000420246.2	-	5	629	c.497C>G	c.(496-498)tCa>tGa	p.S166*	TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S166*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	166	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATGTGCTGTGACTGCTTGTA	0.632		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	44					0	0	0	0	C	7578433	G	C	7578433	4	2	141	1	0	0	0	0	0	1	0	0	16476	1294	45	2	801	2	TP53	17	7578433	Nonsense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	2313721	7578433	73616777	168	26704											
TP53	7157	broad.mit.edu	37	chr17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagatggccatggcgCggacgcgggtgccgggcggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	6	1	2	2	6	1	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:7578457C>T	ENST00000420246.2	-	5	605	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000455263.2_Missense_Mutation_p.R158H|TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000269305.4_Missense_Mutation_p.R158H|TP53_ENST00000413465.2_Missense_Mutation_p.R158H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCATGGCGCGGACGCGGGT	0.627		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	54					0	0	0	0	T	7578457	C	T	7578457	3	4	141	1	0	0	0	0	1	0	0	0	16476	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	24	7578457	73616753	169	26705											
PFAS	5198	broad.mit.edu	37	chr17	8159892	8159892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggcctgaggaccccacacGgccaagccgcttccagcaac	10	3	10	18	3	0	1	0	1	0	0	1	2	1	2	6	3	3	2	6	3	2	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:8159892G>A	ENST00000314666.6	+	8	1005	c.872G>A	c.(871-873)cGg>cAg	p.R291Q	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	291					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GACCCCACACGGCCAAGCCGC	0.547													7	27					0	0	0	0	A	8159892	G	A	8159892	3	1	141	1	0	0	0	0	1	0	0	0	11826	1116	39	1	898	1	PFAS	17	8159892	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	581435	8159892	73035318	170	26706											
NT5M	56953	broad.mit.edu	37	chr17	17248203	17248203	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgaccttctcatagaCgaccggccggacatcacagg	9	8	10	14	3	3	2	2	1	2	1	4	4	3	3	3	3	1	1	3	3	1	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:17248203C>T	ENST00000389022.4	+	4	741	c.525C>T	c.(523-525)gaC>gaT	p.D175D	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	175					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTCTCATAGACGACCGGCCGG	0.602													12	34					0	0	0	0	T	17248203	C	T	17248203	2	4	141	1	0	0	0	0	0	0	0	1	10765	535	19	1		1	NT5M	17	17248203	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	9088311	17248203	63947007	171	26707											
ALDH3A2	224	broad.mit.edu	37	chr17	19555870	19555870	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttatttaggaaatgctgtGattataaagccttctgaact	12	16	7	6	0	1	2	0	2	1	0	1	3	1	3	1	1	3	1	1	1	7	7			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:19555870G>C	ENST00000176643.6	+	3	842	c.396G>C	c.(394-396)gtG>gtC	p.V132V	ALDH3A2_ENST00000581518.1_Silent_p.V132V|ALDH3A2_ENST00000579855.1_Silent_p.V132V|ALDH3A2_ENST00000395575.2_Silent_p.V132V|ALDH3A2_ENST00000339618.4_Silent_p.V132V			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	132					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	GAAATGCTGTGATTATAAAGC	0.353													10	53					0	0	0	0	C	19555870	G	C	19555870	2	2	141	1	0	0	0	0	0	0	0	1	498	1277	45	2		2	ALDH3A2	17	19555870	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	2307667	19555870	61639340	172	26708											
RUNDC1	146923	broad.mit.edu	37	chr17	41143656	41143656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgccctcaacctgctcagtCgcctcagcagcctcaagttt	7	10	8	16	1	4	0	4	0	0	0	5	0	4	0	4	0	5	3	4	0	2	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:41143656C>T	ENST00000361677.1	+	5	1777	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	589	RUN.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTGCTCAGTCGCCTCAGCAG	0.547													9	23					0	0	0	0	T	41143656	C	T	41143656	3	4	141	1	0	0	0	0	1	0	0	0	13827	884	31	1	1783	1	RUNDC1	17	41143656	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	21587786	41143656	40051554	173	26709											
INTS2	57508	broad.mit.edu	37	chr17	59999129	59999129	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgcagcttcctccaaataTactggactctcaaaaagttc	12	12	5	12	0	2	0	1	0	2	0	6	1	4	1	2	1	3	3	2	1	5	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:59999129T>C	ENST00000444766.3	-	4	591	c.516A>G	c.(514-516)gtA>gtG	p.V172V	INTS2_ENST00000251334.6_Silent_p.V164V	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	172					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CCTCCAAATATACTGGACTCT	0.313													6	28					0	0	0	0	C	59999129	T	C	59999129	2	2	141	1	0	0	0	0	0	0	0	1	7831	1393	49	5		5	INTS2	17	59999129	Silent	SNP	T	TCGA-CQ-5334-01A-01D-1683-08	18855473	59999129	21196081	174	26710											
PSMC5	5705	broad.mit.edu	37	chr17	61908892	61908892	+	Frame_Shift_Del	DEL	T	T	-																															ctggacattttgaagattcaTtctcggaagatgaacctgac																										TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:61908892delT	ENST00000310144.6	+	10	1304	c.996delT	c.(994-996)cafs	p.H332fs	PSMC5_ENST00000375812.4_Frame_Shift_Del_p.H324fs|PSMC5_ENST00000581882.1_Frame_Shift_Del_p.H324fs|PSMC5_ENST00000580864.1_Frame_Shift_Del_p.H324fs	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	332					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TGAAGATTCATTCTCGGAAGA	0.547													19	98	---	---	---	---					-	61908892	T	-	61908892	7	5	141	1	0	1	0	1	0	0	0	0	12769	1490	52	0	1034	0	PSMC5	17	61908892	Frame_Shift_Del	DEL	T	TCGA-CQ-5334-01A-01D-1683-08	1909763	61908892	19286318	175	26711											
PRKCA	5578	broad.mit.edu	37	chr17	64299053	64299053	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcaaaggggcgctgaggcaGaagaacgtgcacgaggtgaa	13	3	17	8	4	0	4	0	2	0	2	0	5	0	4	0	4	2	4	0	4	4	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:64299053G>A	ENST00000413366.3	+	1	110	c.84G>A	c.(82-84)caG>caA	p.Q28Q	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	28					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CGCTGAGGCAGAAGAACGTGC	0.627													24	34					0	0	0	0	A	64299053	G	A	64299053	2	1	141	1	0	0	0	0	0	0	0	1	12587	933	33	2		2	PRKCA	17	64299053	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	2390161	64299053	16896157	176	26712											
UBE2O	63893	broad.mit.edu	37	chr17	74392877	74392877	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcgtagtctgactcctcaAtctcagactctatgttgtac	10	14	6	11	1	4	2	2	1	3	1	7	2	5	2	1	0	1	3	1	0	5	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:74392877A>G	ENST00000319380.7	-	14	2205	c.2141T>C	c.(2140-2142)aTt>aCt	p.I714T		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	714							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGACTCCTCAATCTCAGACTC	0.557													23	86					0	0	0	0	G	74392877	A	G	74392877	3	3	141	1	0	0	0	0	1	0	0	0	16964	101	4	5	1757	5	UBE2O	17	74392877	Missense_Mutation	SNP	A	TCGA-CQ-5334-01A-01D-1683-08	10093824	74392877	6802333	177	26713											
SLC25A10	1468	broad.mit.edu	37	chr17	79686897	79686897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggagacagcgaagctcGggcctctggccttttacaag	8	8	13	12	3	1	1	0	0	1	1	2	3	1	1	3	3	3	1	3	3	3	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:79686897G>A	ENST00000331531.5	+	10	889	c.769G>A	c.(769-771)Ggg>Agg	p.G257R	SLC25A10_ENST00000541223.1_Missense_Mutation_p.G403R|SLC25A10_ENST00000571730.1_Missense_Mutation_p.G403R|SLC25A10_ENST00000350690.5_Missense_Mutation_p.G248R|SLC25A10_ENST00000545862.1_Missense_Mutation_p.G205R	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	248					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	p.G248W(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	AGCGAAGCTCGGGCCTCTGGC	0.577													57	201					0	0	0	0	A	79686897	G	A	79686897	3	1	141	1	0	0	0	0	1	0	0	0	14560	1116	39	1	780	1	SLC25A10	17	79686897	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	5294020	79686897	1508313	178	26714											
ADCYAP1	116	broad.mit.edu	37	chr18	909477	909477	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcgcgggggacgaCgcggagccgctctccaagcg	5	2	20	14	9	1	0	0	0	1	0	2	3	1	2	2	6	2	1	2	6	1	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:909477C>T	ENST00000579794.1	+	4	650	c.372C>T	c.(370-372)gaC>gaT	p.D124D	ADCYAP1_ENST00000450565.3_Silent_p.D124D	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	124					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGGGGGACGACGCGGAGCCGC	0.672													19	53					0	0	0	0	T	909477	C	T	909477	2	4	141	1	0	0	0	0	0	0	0	1	302	535	19	1		1	ADCYAP1	18	909477	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08		909477	77167771	179	26715											
EPB41L3	23136	broad.mit.edu	37	chr18	5415859	5415859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcattgtctagggaggcGctcaaggaggccgccttggg	6	8	18	9	2	3	0	2	0	1	0	3	2	3	2	2	6	0	1	2	6	2	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:5415859G>A	ENST00000341928.2	-	13	2365	c.2025C>T	c.(2023-2025)agC>agT	p.S675S	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Silent_p.S675S|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	675	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTAGGGAGGCGCTCAAGGAGG	0.577													10	37					0	0	0	0	A	5415859	G	A	5415859	2	1	141	1	0	0	0	0	0	0	0	1	5192	1078	38	1		1	EPB41L3	18	5415859	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	4506382	5415859	72661389	180	26716											
DSG1	1828	broad.mit.edu	37	chr18	28923432	28923432	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtcccatttttgatgatCtgttgtgattgtggaggtgc	5	17	14	5	0	1	3	0	3	1	0	2	4	2	4	1	3	1	1	1	3	0	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:28923432C>T	ENST00000257192.4	+	12	1919	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	569					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTTTGATGATCTGTTGTGATT	0.438													29	129					0	0	0	0	T	28923432	C	T	28923432	2	4	141	1	0	0	0	0	0	0	0	1	4812	903	32	2		2	DSG1	18	28923432	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	23507573	28923432	49153816	181	26717											
FHOD3	80206	broad.mit.edu	37	chr18	34156443	34156443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agattatgttgtatgtggatGgaatgaatggagtaataaac	15	13	12	1	0	0	2	0	1	0	1	0	5	0	5	0	3	1	3	0	3	7	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:34156443G>A	ENST00000257209.4	+	6	663	c.541G>A	c.(541-543)Gga>Aga	p.G181R	FHOD3_ENST00000359247.4_Missense_Mutation_p.G181R|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000445677.1_Missense_Mutation_p.G181R|FHOD3_ENST00000590592.1_Missense_Mutation_p.G181R	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	181	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GTATGTGGATGGAATGAATGG	0.368													11	42					0	0	0	0	A	34156443	G	A	34156443	3	1	141	1	0	0	0	0	1	0	0	0	5928	1349	47	4	563	4	FHOD3	18	34156443	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	5233011	34156443	43920805	182	26718											
C19orf26	255057	broad.mit.edu	37	chr19	1235906	1235906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgtagttgtccaggatgggGtctggctctgcctgcgggtg	4	11	17	9	2	2	0	0	0	2	0	3	1	3	1	2	5	2	3	2	5	1	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:1235906G>A	ENST00000590083.1	-	3	409	c.117C>T	c.(115-117)gaC>gaT	p.D39D	C19orf26_ENST00000382477.2_Silent_p.D33D|C19orf26_ENST00000215376.6_Silent_p.D33D			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	33						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CCAGGATGGGGTCTGGCTCTG	0.682										HNSCC(14;0.022)			24	72					0	0	0	0	A	1235906	G	A	1235906	2	1	141	1	0	0	0	0	0	0	0	1	1934	1252	44	4		4	C19orf26	19	1235906	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08		1235906	57893077	183	26719											
TRMT1	55621	broad.mit.edu	37	chr19	13220597	13220598	+	Frame_Shift_Del	DEL	CA	CA	-																															ccctacctggtgtcgttgccCacagtgttcacactcggggg																										TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:13220597_13220598delCA	ENST00000592062.1	-	11	1731_1732	c.1161_1162delTG	c.(1159-1164)tgggfs	p.CG387fs	TRMT1_ENST00000221504.8_Frame_Shift_Del_p.CG358fs|TRMT1_ENST00000437766.1_Frame_Shift_Del_p.CG387fs|TRMT1_ENST00000357720.4_Frame_Shift_Del_p.CG387fs			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	387							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGTCGTTGCCCACAGTGTTCAC	0.624													9	77	---	---	---	---					-	13220598	CA	-	13220597	7	5	141	1	0	1	0	1	0	0	0	0	16656	594	21	0	849	0	TRMT1	19	13220597	Frame_Shift_Del	DEL	CA	TCGA-CQ-5334-01A-01D-1683-08	11984691	13220597	45908386	184	26720											
LPHN1	22859	broad.mit.edu	37	chr19	14262302	14262302	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcggctaggttccggcctcGgggcggctcagggcccccat	4	7	15	15	4	1	0	1	0	0	0	4	0	2	0	4	7	0	3	4	7	1	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:14262302G>A	ENST00000340736.6	-	24	4105	c.3808C>T	c.(3808-3810)Cga>Tga	p.R1270*	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Nonsense_Mutation_p.R1265*	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1270					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCCGGCCTCGGGGCGGCTCA	0.637													12	47					0	0	0	0	A	14262302	G	A	14262302	4	1	141	1	0	0	0	0	0	1	0	0	8979	1124	39	1	620	1	LPHN1	19	14262302	Nonsense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	1041705	14262302	44866681	185	26721											
RYR1	6261	broad.mit.edu	37	chr19	39019003	39019003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagcttttgtccaaacagCgccggcgggcagtcgtggcc	8	7	13	13	4	0	0	0	0	0	0	2	0	1	0	3	3	3	2	3	3	2	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:39019003C>T	ENST00000355481.4	+	73	10998	c.10867C>T	c.(10867-10869)Cgc>Tgc	p.R3623C	AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.R3628C|RYR1_ENST00000359596.3_Missense_Mutation_p.R3628C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3628					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R3628C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCCAAACAGCGCCGGCGGGC	0.612													14	28					0	0	0	0	T	39019003	C	T	39019003	3	4	141	1	0	0	0	0	1	0	0	0	13853	768	27	1	11176	1	RYR1	19	39019003	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	24756701	39019003	20109980	186	26722											
MAP4K1	11184	broad.mit.edu	37	chr19	39103292	39103292	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggtggctgtagctcggcCagttcgatggccgtgatgcc	5	9	16	11	4	0	1	0	1	0	0	2	2	0	1	3	4	3	4	3	4	1	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:39103292C>A	ENST00000591517.1	-	9	652	c.624G>T	c.(622-624)ctG>ctT	p.L208L	MAP4K1_ENST00000589130.1_Silent_p.L204L|MAP4K1_ENST00000586296.1_Silent_p.L208L|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000396857.2_Silent_p.L208L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	208	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTAGCTCGGCCAGTTCGATGG	0.632													14	47					6.72482e-11	7.55771e-11	1	0	A	39103292	C	A	39103292	2	1	141	1	0	0	0	0	0	0	0	1	9328	581	21	4		4	MAP4K1	19	39103292	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	84289	39103292	20025691	187	26723											
ZC3H4	23211	broad.mit.edu	37	chr19	47589696	47589696	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgggtggtctcctcccataGagcctctgcccctgcctcgg	3	9	11	18	2	2	1	0	0	2	1	5	1	3	1	7	3	3	0	7	3	1	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:47589696G>C	ENST00000253048.5	-	6	852	c.815C>G	c.(814-816)tCt>tGt	p.S272C	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	272	Gly-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCCCATAGAGCCTCTGCC	0.687													10	52					0	0	0	0	C	47589696	G	C	47589696	3	2	141	1	0	0	0	0	1	0	0	0	17665	942	33	2	3136	2	ZC3H4	19	47589696	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	8486404	47589696	11539287	188	26724											
ATF5	22809	broad.mit.edu	37	chr19	50436276	50436276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggcagagtccgtggagcGcgagatccagtacgtcaagg	10	5	16	10	5	1	2	1	0	0	2	3	4	3	3	2	3	2	2	2	3	2	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:50436276G>A	ENST00000423777.2	+	3	1153	c.776G>A	c.(775-777)cGc>cAc	p.R259H	ATF5_ENST00000595125.1_Missense_Mutation_p.R259H|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	259					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCCGTGGAGCGCGAGATCCAG	0.667													6	24					0	0	0	0	A	50436276	G	A	50436276	3	1	141	1	0	0	0	0	1	0	0	0	1087	1087	38	1	782	1	ATF5	19	50436276	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	2846580	50436276	8692707	189	26725											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56703265	56703265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggcaggatctgctgctctCggcgggcctggcctgtcccc	2	9	15	15	2	2	0	0	0	2	0	4	1	3	1	4	5	2	3	4	5	0	0			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:56703265C>T	ENST00000586855.2	-	3	855	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R181Q			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	181					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTGCTGCTCTCGGCGGGCCTG	0.642													5	19					0	0	0	0	T	56703265	C	T	56703265	3	4	141	1	0	0	0	0	1	0	0	0	18330	884	31	1	957	1	ZSCAN5B	19	56703265	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	6266989	56703265	2425718	190	26726											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596360	58596360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcatagggcttcccgcGggacaagcccggctcgtcag	7	5	15	14	4	1	0	1	0	0	0	3	1	2	1	2	4	1	4	2	4	2	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:58596360G>A	ENST00000240727.6	-	7	1624	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.R409C|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.R465C|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.R273C	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	409					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCTTCCCGCGGGACAAGCCC	0.731													4	4					0	0	0	0	A	58596360	G	A	58596360	3	1	141	1	0	0	0	0	1	0	0	0	18322	1116	39	1	311	1	ZSCAN18	19	58596360	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	1893095	58596360	532623	191	26727											
FOXA2	3170	broad.mit.edu	37	chr20	22563766	22563766	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgttcatccccaggccggcGttcatgttgctcacggagga	6	9	12	14	4	3	0	3	0	0	0	4	2	4	2	4	4	1	4	4	4	0	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:22563766G>A	ENST00000419308.2	-	2	298	c.96C>T	c.(94-96)aaC>aaT	p.N32N	FOXA2_ENST00000319993.4_Silent_p.N38N|FOXA2_ENST00000377115.4_Silent_p.N32N	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	32	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CCAGGCCGGCGTTCATGTTGC	0.667													20	79					0	0	0	0	A	22563766	G	A	22563766	2	1	141	1	0	0	0	0	0	0	0	1	6035	1136	40	1		1	FOXA2	20	22563766	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08		22563766	40461754	192	26728											
PHF20	51230	broad.mit.edu	37	chr20	34430552	34430552	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaaagtactcatccatttCaagcgttggaaccatcgtta	13	11	8	9	2	2	0	2	0	0	0	4	2	3	2	2	2	3	3	2	2	6	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:34430552C>G	ENST00000374012.3	+	3	270	c.141C>G	c.(139-141)ttC>ttG	p.F47L	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Missense_Mutation_p.F47L			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TCATCCATTTCAAGCGTTGGA	0.423													14	79					0	0	0	0	G	34430552	C	G	34430552	3	3	141	1	0	0	0	0	1	0	0	0	11903	825	29	2	147	2	PHF20	20	34430552	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	11866786	34430552	28594968	193	26729											
SLC32A1	140679	broad.mit.edu	37	chr20	37356976	37356976	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccggcctgctacagcggCgacgggcgcctgaagtcctg	5	7	14	15	5	0	1	0	1	0	0	2	2	2	1	4	3	3	1	4	3	2	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:37356976C>T	ENST00000217420.1	+	2	1535	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	424					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCTACAGCGGCGACGGGCGCC	0.632													8	19					0	0	0	0	T	37356976	C	T	37356976	2	4	141	1	0	0	0	0	0	0	0	1	14653	755	27	1		1	SLC32A1	20	37356976	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	2926424	37356976	25668544	194	26730											
SERINC3	10955	broad.mit.edu	37	chr20	43129936	43129936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggctattagtggaagtgCggatgctggaaagtgatccc	9	11	14	7	1	0	1	0	1	0	0	1	4	1	4	1	4	2	2	1	4	4	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:43129936C>T	ENST00000342374.4	-	9	1218	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	SERINC3_ENST00000255175.1_Missense_Mutation_p.R354H|SERINC3_ENST00000541235.1_Missense_Mutation_p.R299H	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	354						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGTGGAAGTGCGGATGCTGGA	0.493													12	66					0	0	0	0	T	43129936	C	T	43129936	3	4	141	1	0	0	0	0	1	0	0	0	14168	768	27	1	368	1	SERINC3	20	43129936	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	5772960	43129936	19895584	195	26731											
NFATC2	4773	broad.mit.edu	37	chr20	50158922	50158922	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccgaccttcgttcggattCaaatactcatagtcgaagag	12	10	8	11	4	2	1	2	0	0	1	5	4	2	2	2	1	1	1	2	1	4	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:50158922C>T	ENST00000371564.3	-	1	336	c.117G>A	c.(115-117)ttG>ttA	p.L39L	NFATC2_ENST00000396009.3_Silent_p.L39L|NFATC2_ENST00000414705.1_Intron	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	39					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGTTCGGATTCAAATACTCAT	0.672													6	27					0	0	0	0	T	50158922	C	T	50158922	2	4	141	1	0	0	0	0	0	0	0	1	10432	825	29	2		2	NFATC2	20	50158922	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	7028986	50158922	12866598	196	26732											
ZNF831	128611	broad.mit.edu	37	chr20	57766301	57766301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctccagccccgcgcccCgctagtgacgggcagcctag	5	4	14	18	4	0	1	0	1	0	0	1	1	1	1	7	2	2	2	7	2	2	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:57766301C>T	ENST00000371030.2	+	1	227	c.227C>T	c.(226-228)cCg>cTg	p.P76L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	76	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCCGCGCCCCGCTAGTGACG	0.716													3	13					0	0	0	0	T	57766301	C	T	57766301	3	4	141	1	0	0	0	0	1	0	0	0	18278	652	23	1	229	1	ZNF831	20	57766301	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	7607379	57766301	5259219	197	26733											
SON	6651	broad.mit.edu	37	chr21	34925097	34925097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcattgcccactgagcagtCagcattaacagctgaaaata	15	8	8	10	0	1	2	1	2	0	0	1	2	1	2	1	0	6	4	1	0	4	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr21:34925097C>T	ENST00000356577.4	+	3	4035	c.3560C>T	c.(3559-3561)tCa>tTa	p.S1187L	SON_ENST00000290239.6_Missense_Mutation_p.S1187L|SON_ENST00000381679.4_Missense_Mutation_p.S1187L|SON_ENST00000300278.4_Missense_Mutation_p.S1187L|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1187					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ACTGAGCAGTCAGCATTAACA	0.537													21	83					0	0	0	0	T	34925097	C	T	34925097	3	4	141	1	0	0	0	0	1	0	0	0	15014	838	29	2	3570	2	SON	21	34925097	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08		34925097	13204798	198	26734											
PCNT	5116	broad.mit.edu	37	chr21	47831965	47831965	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgctgctttggagccggTtgtccctgacccacaggtgg	5	11	14	11	1	0	2	0	2	0	0	1	3	1	3	3	4	3	3	3	4	0	2			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr21:47831965T>A	ENST00000359568.5	+	28	6085	c.5978T>A	c.(5977-5979)gTt>gAt	p.V1993D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1993					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTGGAGCCGGTTGTCCCTGAC	0.627													9	34					0	0	0	0	A	47831965	T	A	47831965	3	1	141	1	0	0	0	0	1	0	0	0	11661	1725	60	5	6088	5	PCNT	21	47831965	Missense_Mutation	SNP	T	TCGA-CQ-5334-01A-01D-1683-08	12906868	47831965	297930	199	26735											
MAPK1	5594	broad.mit.edu	37	chr22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaacatgagctcttacctCgtcactcgggtcgtaatact	10	11	9	11	3	2	1	1	1	1	0	5	2	2	2	1	2	4	2	1	2	4	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478													10	46					0	0	0	0	T	22127164	C	T	22127164	3	4	141	1	0	0	0	0	1	0	0	0	9340	893	31	1	126	1	MAPK1	22	22127164	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08		22127164	29177402	200	26736											
AP1B1	162	broad.mit.edu	37	chr22	29738276	29738276	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaggttggggcacccacctGagtggccaaactgaggacct	9	6	15	11	0	0	2	0	2	0	0	0	4	0	4	4	6	1	2	4	6	1	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:29738276G>A	ENST00000357586.2	-	12	1720	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	AP1B1_ENST00000432560.2_Nonsense_Mutation_p.Q512*|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.Q512*|AP1B1_ENST00000405198.1_Nonsense_Mutation_p.Q512*|AP1B1_ENST00000402502.1_Nonsense_Mutation_p.Q512*|AP1B1_ENST00000317368.7_Nonsense_Mutation_p.Q512*|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.Q512*	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	512					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCACCCACCTGAGTGGCCAAA	0.592													3	18					0	0	0	0	A	29738276	G	A	29738276	4	1	141	1	0	0	0	0	0	1	0	0	732	1299	45	2	1363	2	AP1B1	22	29738276	Nonsense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	7611112	29738276	21566290	201	26737											
LARGE	9215	broad.mit.edu	37	chr22	33733713	33733713	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtcatactccaggaaggtCaggtagaggttgcgaaaaaa	14	7	12	8	2	2	1	2	0	0	1	3	3	3	2	2	4	2	2	2	4	6	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:33733713C>T	ENST00000354992.2	-	11	1777	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	LARGE_ENST00000437602.2_Silent_p.L402L|LARGE_ENST00000397394.2_Silent_p.L402L|LARGE_ENST00000452586.2_Silent_p.L201L|LARGE_ENST00000402320.1_Intron|LARGE_ENST00000337431.2_Intron	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	402					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCAGGAAGGTCAGGTAGAGGT	0.527													15	25					0	0	0	0	T	33733713	C	T	33733713	2	4	141	1	0	0	0	0	0	0	0	1	8680	813	29	2		2	LARGE	22	33733713	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	3995437	33733713	17570853	202	26738											
SREBF2	6721	broad.mit.edu	37	chr22	42269956	42269956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccataatatcattgagaaacGatatcgctcctccatcaatg	14	11	5	11	2	2	1	2	1	0	1	5	3	4	1	3	0	1	1	3	0	5	4			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:42269956G>A	ENST00000361204.4	+	5	1188	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	341	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATTGAGAAACGATATCGCTCC	0.478													6	24					0	0	0	0	A	42269956	G	A	42269956	3	1	141	1	0	0	0	0	1	0	0	0	15232	1058	37	1	1040	1	SREBF2	22	42269956	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	8536243	42269956	9034610	203	26739											
CYB5R3	1727	broad.mit.edu	37	chr22	43019858	43019858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaatgtttgttcctgagttCctccagctcaggtcgcagca	8	12	10	11	1	1	2	1	1	0	1	5	2	4	2	3	1	2	6	3	1	1	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:43019858C>T	ENST00000361740.4	-	8	768	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	CYB5R3_ENST00000396303.3_Missense_Mutation_p.E201K|CYB5R3_ENST00000407332.1_Missense_Mutation_p.E201K|CYB5R3_ENST00000352397.5_Missense_Mutation_p.E224K|CYB5R3_ENST00000407623.3_Missense_Mutation_p.E201K|CYB5R3_ENST00000402438.1_Missense_Mutation_p.E201K	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	224					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	TTCCTGAGTTCCTCCAGCTCA	0.612													21	55					0	0	0	0	T	43019858	C	T	43019858	3	4	141	1	0	0	0	0	1	0	0	0	4160	864	30	2	243	2	CYB5R3	22	43019858	Missense_Mutation	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	749902	43019858	8284708	204	26740											
LMF2	91289	broad.mit.edu	37	chr22	50941937	50941937	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctgcgcttctccccgctGactggtgccagcggggagga	4	7	16	14	3	1	1	0	1	1	0	2	3	1	3	4	5	3	2	4	5	0	1			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:50941937G>A	ENST00000216080.5	-	14	2100	c.1932C>T	c.(1930-1932)gtC>gtT	p.V644V	LMF2_ENST00000474879.2_Silent_p.V669V|LMF2_ENST00000380796.3_Silent_p.V556V			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	669						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTCCCCGCTGACTGGTGCCA	0.672													9	24					0	0	0	0	A	50941937	G	A	50941937	2	1	141	1	0	0	0	0	0	0	0	1	8901	1277	45	2		2	LMF2	22	50941937	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	7922079	50941937	362629	205	26741											
SMC1A	8243	broad.mit.edu	37	chrX	53439161	53439161	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggtgttctccttggctttGatgtactgaggccgcttctg	4	15	13	9	1	2	2	0	2	2	0	3	3	2	2	2	3	1	4	2	3	1	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:53439161G>C	ENST00000322213.4	-	6	1024	c.897C>G	c.(895-897)atC>atG	p.I299M	SMC1A_ENST00000375340.6_Intron|SMC1A_ENST00000463684.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	299					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CCTTGGCTTTGATGTACTGAG	0.502													12	15					0	0	0	0	C	53439161	G	C	53439161	3	2	141	1	0	0	0	0	1	0	0	0	14869	1280	45	2	2884	2	SMC1A	23	53439161	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08		53439161	101831399	206	26742											
HUWE1	10075	broad.mit.edu	37	chrX	53573400	53573400	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttacttctgctattacctaTttgtttacaaagggtataac	11	18	5	7	0	1	0	0	0	1	0	1	0	1	0	1	1	5	3	1	1	8	11			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:53573400T>C	ENST00000342160.3	-	69	11369	c.10912A>G	c.(10912-10914)Ata>Gta	p.I3638V	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.I3638V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3638					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTATTACCTATTTGTTTACAA	0.483													3	6					0	0	0	0	C	53573400	T	C	53573400	3	2	141	1	0	0	0	0	1	0	0	0	7514	1493	52	5	2272	5	HUWE1	23	53573400	Missense_Mutation	SNP	T	TCGA-CQ-5334-01A-01D-1683-08	134239	53573400	101697160	207	26743											
CHIC1	53344	broad.mit.edu	37	chrX	72797282	72797282	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatactgaatttccctcCgttctaacagggaaggtaag	11	13	9	8	1	1	2	0	2	1	0	3	3	3	3	2	2	2	2	2	2	5	6			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:72797282C>G	ENST00000373504.6	+	2	421	c.336C>G	c.(334-336)tcC>tcG	p.S112S	CHIC1_ENST00000373502.5_Silent_p.S112S			Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	112						cytoplasmic membrane-bounded vesicle|plasma membrane				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					AATTTCCCTCCGTTCTAACAG	0.343													22	54					0	0	0	0	G	72797282	C	G	72797282	2	3	141	1	0	0	0	0	0	0	0	1	3372	639	23	3		3	CHIC1	23	72797282	Silent	SNP	C	TCGA-CQ-5334-01A-01D-1683-08	19223882	72797282	82473278	208	26744											
PHF6	84295	broad.mit.edu	37	chrX	133549100	133549100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcaagagcagaatttggaGactttgatattaaaactgta	16	12	8	5	0	1	4	1	1	0	3	1	5	1	4	0	1	2	2	0	1	6	5			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:133549100G>A	ENST00000332070.3	+	8	986	c.784G>A	c.(784-786)Gac>Aac	p.D262N	PHF6_ENST00000370803.3_Missense_Mutation_p.D262N|PHF6_ENST00000370800.4_Missense_Mutation_p.D263N|PHF6_ENST00000416404.2_Missense_Mutation_p.D228N|PHF6_ENST00000370799.1_Missense_Mutation_p.D263N|PHF6_ENST00000394292.1_Missense_Mutation_p.D263N	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					AGAATTTGGAGACTTTGATAT	0.338			"F, N, Splice, Mis"		ETP ALL								13	17					0	0	0	0	A	133549100	G	A	133549100	3	1	141	1	0	0	0	0	1	0	0	0	11910	942	33	2	813	2	PHF6	23	133549100	Missense_Mutation	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	60751818	133549100	21721460	209	26745											
SOX3	6658	broad.mit.edu	37	chrX	139586794	139586794	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggaccataccatgaaggcGttcatgggccgtttcacacg	9	8	12	12	4	2	1	2	1	0	0	2	2	2	2	3	3	1	2	3	3	2	3			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:139586794G>A	ENST00000370536.2	-	1	431	c.432C>T	c.(430-432)aaC>aaT	p.N144N		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	144					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CCATGAAGGCGTTCATGGGCC	0.667													11	16					0	0	0	0	A	139586794	G	A	139586794	2	1	141	1	0	0	0	0	0	0	0	1	15039	1136	40	1		1	SOX3	23	139586794	Silent	SNP	G	TCGA-CQ-5334-01A-01D-1683-08	6037694	139586794	15683766	210	26746											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854235	12854235	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaaggtgttcatagacatCtgcctcaaggaaatacccca	14	10	7	10	0	3	1	2	0	1	1	3	2	3	2	3	2	2	1	3	2	6	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:12854235C>T	ENST00000332296.7	+	3	562	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	153										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCATAGACATCTGCCTCAAGG	0.522													71	273					0	0	0	0	T	12854235	C	T	12854235	2	4	142	1	0	0	0	0	0	0	0	1	12501	903	32	2		2	PRAMEF1	1	12854235	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08		12854235	236396386	1	26747											
NBPF1	55672	broad.mit.edu	37	chr1	16907926	16907926	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgttacctgggggcagaTgattccagtactttctcagc	8	12	11	10	0	1	2	1	1	1	1	3	2	2	2	2	2	3	3	2	2	2	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:16907926T>A	ENST00000430580.2	-	15	2255	c.1368A>T	c.(1366-1368)tcA>tcT	p.S456S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	456	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGGGGGCAGATGATTCCAGTA	0.433													40	881					0	0	0	0	A	16907926	T	A	16907926	2	1	142	1	0	0	0	0	0	0	0	1	10262	1451	51	5		5	NBPF1	1	16907926	Silent	SNP	T	TCGA-CQ-6218-01A-11D-1912-08	4053691	16907926	232342695	2	26748											
EXTL1	2134	broad.mit.edu	37	chr1	26349593	26349593	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagctcaatgcctctgcaAtggaacaggggcaggaacca	12	6	12	11	0	2	0	1	0	1	0	2	2	2	2	2	4	6	4	2	4	4	0			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:26349593A>G	ENST00000374280.3	+	1	1323	c.456A>G	c.(454-456)caA>caG	p.Q152Q		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	152					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTCTGCAATGGAACAGGG	0.647													13	53					0	0	0	0	G	26349593	A	G	26349593	2	3	142	1	0	0	0	0	0	0	0	1	5363	98	4	5		5	EXTL1	1	26349593	Silent	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	9441667	26349593	222901028	3	26749											
LRRC7	57554	broad.mit.edu	37	chr1	70144160	70144160	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaagaggcctgaagaggaGtgtaagtatgtttaatagga	14	9	15	3	1	0	3	0	1	0	2	0	6	0	6	1	4	0	3	1	4	6	5			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:70144160G>C	ENST00000370958.1	+	2	289	c.100_splice	c.e2+1	p.E33_splice	LRRC7_ENST00000310961.5_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	0						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGAAGAGGAGTGTAAGTATG	0.408													5	12					0	0	0	0	C	70144160	G	C	70144160	5	2	142	1	0	0	0	0	0	0	1	0	9084	1044	36	4		4	LRRC7	1	70144160	Splice_Site	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	43794567	70144160	179106461	4	26750											
C1orf173	127254	broad.mit.edu	37	chr1	75038225	75038225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctttccttcgctctcttgCtaaatctaattccttgggta	7	17	6	11	1	2	0	0	0	2	0	6	0	4	0	2	1	2	4	2	1	4	8			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:75038225C>A	ENST00000326665.5	-	14	3387	c.3169G>T	c.(3169-3171)Gca>Tca	p.A1057S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1057	Glu-rich.									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						CGCTCTCTTGCTAAATCTAAT	0.443													51	131					2.0833e-19	3.39846e-19	1	0	A	75038225	C	A	75038225	3	1	142	1	0	0	0	0	1	0	0	0	2033	797	28	4	1427	4	C1orf173	1	75038225	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	4894065	75038225	174212396	5	26751											
ABCA4	24	broad.mit.edu	37	chr1	94526180	94526180	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccaaatcactgcattggaGacaccctgatttttcaaggt	12	11	7	11	0	2	2	2	1	0	1	2	3	2	2	2	2	1	1	2	2	2	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:94526180G>A	ENST00000370225.3	-	14	2159	c.2073C>T	c.(2071-2073)gtC>gtT	p.V691V	ABCA4_ENST00000535735.1_Silent_p.V691V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	691					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGCATTGGAGACACCCTGAT	0.483													20	54					0	0	0	0	A	94526180	G	A	94526180	2	1	142	1	0	0	0	0	0	0	0	1	34	929	33	2		2	ABCA4	1	94526180	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	19487955	94526180	154724441	6	26752											
DRAM2	128338	broad.mit.edu	37	chr1	111660792	111660792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcctttcatcaaatatctCtggaaagtagccgtgttcgt	10	15	7	9	2	3	0	2	0	1	0	6	1	4	1	2	1	1	2	2	1	5	5			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:111660792C>T	ENST00000286692.4	-	9	1408	c.791G>A	c.(790-792)aGa>aAa	p.R264K	DRAM2_ENST00000539140.1_Missense_Mutation_p.R264K|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	264					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						TCAAATATCTCTGGAAAGTAG	0.368													10	53					0	0	0	0	T	111660792	C	T	111660792	3	4	142	1	0	0	0	0	1	0	0	0	4790	913	32	2	13	2	DRAM2	1	111660792	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	17134612	111660792	137589829	7	26753											
PEX19	5824	broad.mit.edu	37	chr1	160253344	160253344	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagtgtctcctggcgatctCttctggggccccgaagcatc	5	10	12	14	2	3	0	0	0	3	0	6	2	3	0	3	3	1	2	3	3	1	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:160253344C>T	ENST00000368072.5	-	2	177	c.156G>A	c.(154-156)aaG>aaA	p.K52K	DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000440949.3_5'UTR|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGCGATCTCTTCTGGGGCC	0.577													21	50					0	0	0	0	T	160253344	C	T	160253344	2	4	142	1	0	0	0	0	0	0	0	1	11816	912	32	2		2	PEX19	1	160253344	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	48592552	160253344	88997277	8	26754											
UAP1	6675	broad.mit.edu	37	chr1	162536139	162536139	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggcctgggaaagtgaagGtactgggcatgtacatattt	11	10	13	7	0	0	1	0	1	0	0	0	2	0	2	2	4	2	3	2	4	5	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:162536139G>T	ENST00000271469.3	+	2	582		c.e2+1		UAP1_ENST00000367924.1_Splice_Site|UAP1_ENST00000367925.1_Splice_Site|UAP1_ENST00000367926.4_Splice_Site			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1						dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAAAGTGAAGGTACTGGGCAT	0.408													12	31					2.68362e-12	4.32938e-12	1	0	T	162536139	G	T	162536139	5	4	142	1	0	0	0	0	0	0	1	0	16921	1275	44	4	283	4	UAP1	1	162536139	Splice_Site	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	2282795	162536139	86714482	9	26755											
TMCO1	54499	broad.mit.edu	37	chr1	165712477	165712477	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgtcatctcccagcagaTttcgatgagacagtccttgg	8	12	11	10	1	2	2	1	1	1	2	5	4	3	2	2	2	1	1	2	2	0	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:165712477T>C	ENST00000367881.5	-	6	823	c.548A>G	c.(547-549)aAt>aGt	p.N183S	TMCO1_ENST00000464650.1_Missense_Mutation_p.N48S|TMCO1_ENST00000580248.1_Missense_Mutation_p.N48S|TMCO1_ENST00000392129.6_Missense_Mutation_p.N132S			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	132	Poly-Pro.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TCCCAGCAGATTTCGATGAGA	0.378													14	43					0	0	0	0	C	165712477	T	C	165712477	3	2	142	1	0	0	0	0	1	0	0	0	16089	1493	52	5	179	5	TMCO1	1	165712477	Missense_Mutation	SNP	T	TCGA-CQ-6218-01A-11D-1912-08	3176338	165712477	83538144	10	26756											
DNM3	26052	broad.mit.edu	37	chr1	172011156	172011156	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaacaattacaggatggttCagcaatttgctgtggacttt	11	15	9	6	0	1	0	1	0	0	0	1	2	1	2	0	3	4	3	0	3	4	5			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:172011156C>T	ENST00000358155.4	+	8	1176	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	DNM3_ENST00000355305.5_Nonsense_Mutation_p.Q334*|DNM3_ENST00000367733.2_Nonsense_Mutation_p.Q334*|DNM3_ENST00000367731.1_Nonsense_Mutation_p.Q334*|DNM3_ENST00000520906.1_Nonsense_Mutation_p.Q334*	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	334					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAGGATGGTTCAGCAATTTGC	0.368													23	87					0	0	0	0	T	172011156	C	T	172011156	4	4	142	1	0	0	0	0	0	1	0	0	4709	827	29	2	1030	2	DNM3	1	172011156	Nonsense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	6298679	172011156	77239465	11	26757											
F13B	2165	broad.mit.edu	37	chr1	197030149	197030149	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactttgtccttcactttgaAtgttttctgtgttgtggaat	6	21	8	6	0	2	1	1	1	1	0	3	2	3	2	1	1	1	2	1	1	3	7			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:197030149A>T	ENST00000367412.1	-	4	551	c.508T>A	c.(508-510)Ttc>Atc	p.F170I		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	170	Sushi 3.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTCACTTTGAATGTTTTCTGT	0.323													13	61					0	0	0	0	T	197030149	A	T	197030149	3	4	142	1	0	0	0	0	1	0	0	0	5379	101	4	5	1513	5	F13B	1	197030149	Missense_Mutation	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	25018993	197030149	52220472	12	26758											
ADORA1	134	broad.mit.edu	37	chr1	203097989	203097989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgccgccctccatctcagCtttccaggccgcctacatcg	6	9	7	19	3	1	0	1	0	1	0	5	0	3	0	6	1	3	1	6	1	1	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:203097989C>T	ENST00000367236.4	+	2	941	c.20C>T	c.(19-21)gCt>gTt	p.A7V	ADORA1_ENST00000309502.3_Missense_Mutation_p.A7V|ADORA1_ENST00000337894.4_Missense_Mutation_p.A7V|ADORA1_ENST00000367235.1_Missense_Mutation_p.A7V	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	7					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCCATCTCAGCTTTCCAGGCC	0.657													18	81					0	0	0	0	T	203097989	C	T	203097989	3	4	142	1	0	0	0	0	1	0	0	0	326	797	28	4	22	4	ADORA1	1	203097989	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	6067840	203097989	46152632	13	26759											
TP53BP2	7159	broad.mit.edu	37	chr1	223984132	223984132	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagtaatttagttgggctGagtggccgaggaattctttc	8	13	14	6	1	1	1	0	1	1	0	2	3	1	2	1	4	0	4	1	4	3	6			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:223984132G>C	ENST00000391878.2	-	14	2490	c.1722C>G	c.(1720-1722)ctC>ctG	p.L574L	TP53BP2_ENST00000343537.7_Silent_p.L703L|TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	697					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TAGTTGGGCTGAGTGGCCGAG	0.468													45	122					0	0	0	0	C	223984132	G	C	223984132	2	2	142	1	0	0	0	0	0	0	0	1	16479	1277	45	2		2	TP53BP2	1	223984132	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	20886143	223984132	25266489	14	26760											
SLC8A1	6546	broad.mit.edu	37	chr2	40366549	40366549	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaatttgtacctggcactGatgttccaagtgcgacgaac	10	12	10	9	2	0	1	0	1	0	0	1	3	1	1	2	1	3	4	2	1	4	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr2:40366549G>C	ENST00000406785.1	-	7	2618	c.2429C>G	c.(2428-2430)tCa>tGa	p.S810*	SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.S841*|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.S810*|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000403092.1_Nonsense_Mutation_p.S846*|SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.S810*|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.S846*|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.S841*|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.S810*|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.S838*|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.S810*|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	846					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	ACCTGGCACTGATGTTCCAAG	0.453													10	20					0	0	0	0	C	40366549	G	C	40366549	4	2	142	1	0	0	0	0	0	1	0	0	14794	1294	45	2	392	2	SLC8A1	2	40366549	Nonsense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08		40366549	202832824	15	26761											
INPP4A	3631	broad.mit.edu	37	chr2	99154409	99154409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaccaacggccccctgtgaCccggtctgtggacactgtca	8	7	11	15	2	2	2	1	1	1	1	2	3	2	3	4	3	1	0	4	3	1	0			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr2:99154409C>T	ENST00000074304.5	+	8	944	c.551C>T	c.(550-552)aCc>aTc	p.T184I	INPP4A_ENST00000523221.1_Missense_Mutation_p.T184I|INPP4A_ENST00000409851.3_Missense_Mutation_p.T184I|INPP4A_ENST00000409540.3_Missense_Mutation_p.T184I|INPP4A_ENST00000545415.1_Missense_Mutation_p.T184I|INPP4A_ENST00000409016.3_Missense_Mutation_p.T184I|INPP4A_ENST00000409463.1_Intron	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	184					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCCCCTGTGACCCGGTCTGTG	0.522													5	16					0	0	0	0	T	99154409	C	T	99154409	3	4	142	1	0	0	0	0	1	0	0	0	7805	507	18	4	573	4	INPP4A	2	99154409	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	58787860	99154409	144044964	16	26762											
IL1R2	7850	broad.mit.edu	37	chr2	102638648	102638649	+	Splice_Site	INS	-	-	A																															tttccttacatctttctcagINSaaaaaaaagaagagaccatt																										TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr2:102638648_102638649insA	ENST00000332549.3	+	6	917_918		c.e6-1		IL1R2_ENST00000441002.1_Splice_Site|IL1R2_ENST00000393414.2_Splice_Site	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II						immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	ATCTTTCTCAGAAAAAAAAGAA	0.441													7	217	---	---	---	---					A	102638649	-	A	102638648	8	5	142	1	0	1	1	0	0	0	1	0	7712	956	33	0	706	0	IL1R2	2	102638648	Splice_Site	INS	-	TCGA-CQ-6218-01A-11D-1912-08	3484239	102638648	140560725	17	26763											
ACVR2A	92	broad.mit.edu	37	chr2	148653878	148653878	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attatcttataggtgctataCttggtagatcagaaactcag	13	14	8	6	0	3	2	2	0	1	2	3	2	3	2	0	2	3	2	0	2	7	7			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr2:148653878C>G	ENST00000241416.7	+	2	700	c.64C>G	c.(64-66)Ctt>Gtt	p.L22V	ACVR2A_ENST00000535787.1_Intron|ACVR2A_ENST00000404590.1_Missense_Mutation_p.L22V	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	22					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AGGTGCTATACTTGGTAGATC	0.328													7	49					0	0	0	0	G	148653878	C	G	148653878	3	3	142	1	0	0	0	0	1	0	0	0	223	565	20	4	70	4	ACVR2A	2	148653878	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	46015230	148653878	94545495	18	26764											
BAZ2B	29994	broad.mit.edu	37	chr2	160243034	160243034	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaactttaccaaagtttcGtaagaactgcaccaccatga	16	9	5	11	1	0	2	0	1	0	1	1	2	0	2	3	0	4	3	3	0	6	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr2:160243034G>A	ENST00000392783.2	-	22	3796	c.3301C>T	c.(3301-3303)Cga>Tga	p.R1101*	AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.R1065*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.R1067*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.R1001*	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1101	DDT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCAAAGTTTCGTAAGAACTGC	0.413													13	45					0	0	0	0	A	160243034	G	A	160243034	4	1	142	1	0	0	0	0	0	1	0	0	1336	1153	40	1	3269	1	BAZ2B	2	160243034	Nonsense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	11589156	160243034	82956339	19	26765											
FYCO1	79443	broad.mit.edu	37	chr3	46008282	46008282	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgccccttcacgctccgaGcattgcagcagctcctggac	7	8	10	16	2	1	0	1	0	0	0	3	2	3	1	4	1	5	5	4	1	0	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:46008282G>A	ENST00000296137.2	-	8	2749	c.2544C>T	c.(2542-2544)tgC>tgT	p.C848C	FYCO1_ENST00000535325.1_Silent_p.C848C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	848					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CACGCTCCGAGCATTGCAGCA	0.627													11	24					0	0	0	0	A	46008282	G	A	46008282	2	1	142	1	0	0	0	0	0	0	0	1	6173	963	34	4		4	FYCO1	3	46008282	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08		46008282	152014148	20	26766											
CELSR3	1951	broad.mit.edu	37	chr3	48697921	48697921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatgctccacagactcaCggtccaggggaccactcaca	12	6	9	14	1	2	1	2	0	0	1	4	2	4	2	3	3	1	2	3	3	1	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:48697921C>T	ENST00000544264.1	-	1	2427	c.2147G>A	c.(2146-2148)cGt>cAt	p.R716H	CELSR3_ENST00000164024.4_Missense_Mutation_p.R716H			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	716	Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACAGACTCACGGTCCAGGGG	0.557													12	26					0	0	0	0	T	48697921	C	T	48697921	3	4	142	1	0	0	0	0	1	0	0	0	3252	536	19	1	7931	1	CELSR3	3	48697921	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	2689639	48697921	149324509	21	26767											
OR5H6	79295	broad.mit.edu	37	chr3	97983471	97983471	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatctctctctgaatgcatgGtacaatttttttcccttgta	8	19	5	9	0	2	1	0	1	2	0	5	1	3	1	1	1	2	3	1	1	5	7			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:97983471G>C	ENST00000383696.2	+	1	384	c.343G>C	c.(343-345)Gta>Cta	p.V115L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGAATGCATGGTACAATTTTT	0.388													23	113					0	0	0	0	C	97983471	G	C	97983471	3	2	142	1	0	0	0	0	1	0	0	0	11234	1261	44	4	345	4	OR5H6	3	97983471	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	49285550	97983471	100038959	22	26768											
GTPBP8	29083	broad.mit.edu	37	chr3	112718380	112718380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttgttaacatgaaaactCaaggatgttttcctcagttg	13	15	7	6	0	2	1	2	1	0	0	3	2	3	2	1	1	2	3	1	1	5	5			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:112718380C>G	ENST00000383677.3	+	4	670	c.655C>G	c.(655-657)Caa>Gaa	p.Q219E	GTPBP8_ENST00000467752.1_Missense_Mutation_p.Q141E|GTPBP8_ENST00000473129.1_Missense_Mutation_p.Q102E|GTPBP8_ENST00000383678.2_Missense_Mutation_p.Q252E	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	252	G.				barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						CATGAAAACTCAAGGATGTTT	0.289													14	65					0	0	0	0	G	112718380	C	G	112718380	3	3	142	1	0	0	0	0	1	0	0	0	6934	827	29	2	772	2	GTPBP8	3	112718380	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	14734909	112718380	85304050	23	26769											
FSTL1	11167	broad.mit.edu	37	chr3	120130792	120130792	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgaggtaggtcttgccAttactgccacacacaggcct	8	11	11	11	0	1	1	0	1	1	0	1	1	1	1	3	4	3	2	3	4	2	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:120130792A>C	ENST00000295633.3	-	4	563	c.207T>G	c.(205-207)aaT>aaG	p.N69K	FSTL1_ENST00000424703.2_Missense_Mutation_p.N34K	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	69	Kazal-like.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		AGGTCTTGCCATTACTGCCAC	0.473													25	81					0	0	0	0	C	120130792	A	C	120130792	3	2	142	1	0	0	0	0	1	0	0	0	6125	214	8	5	751	5	FSTL1	3	120130792	Missense_Mutation	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	7412412	120130792	77891638	24	26770											
ATR	545	broad.mit.edu	37	chr3	142185265	142185265	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgatggaagtgtaggtatCatgactgattgtagaggaat	13	13	13	2	0	1	4	1	3	0	1	1	6	1	6	0	3	0	3	0	3	5	5			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:142185265C>G	ENST00000350721.4	-	40	6919	c.6798G>C	c.(6796-6798)atG>atC	p.M2266I	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.M2202I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2266					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTGTAGGTATCATGACTGATT	0.403								Other conserved DNA damage response genes					9	49					0	0	0	0	G	142185265	C	G	142185265	3	3	142	1	0	0	0	0	1	0	0	0	1208	826	29	2	1168	2	ATR	3	142185265	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	22054473	142185265	55837165	25	26771											
TBL1XR1	79718	broad.mit.edu	37	chr3	176765338	176765338	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctagaagtgtaccttcactCtgccagagaaaaacatttct	13	11	7	10	0	3	2	1	0	2	2	3	3	3	2	2	0	3	2	2	0	5	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:176765338C>G	ENST00000430069.1	-	8	962		c.e8-1		TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Splice_Site			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1						canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TACCTTCACTCTGCCAGAGAA	0.328													8	29					0	0	0	0	G	176765338	C	G	176765338	5	3	142	1	0	0	0	0	0	0	1	0	15734	927	32	2	878	2	TBL1XR1	3	176765338	Splice_Site	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	34580073	176765338	21257092	26	26772											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			11	43					0	0	0	0	A	178936082	G	A	178936082	3	1	142	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	2170744	178936082	19086348	27	26773											
EPHB3	2049	broad.mit.edu	37	chr3	184294876	184294876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatctgctggcccacacgcGctacacctttgaggtgcagg	7	8	11	15	2	1	1	0	1	1	0	1	1	1	1	3	3	3	3	3	3	1	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:184294876G>A	ENST00000330394.2	+	5	1711	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	420	Fibronectin type-III 1.					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)			GCCCACACGCGCTACACCTTT	0.627													19	40					0	0	0	0	A	184294876	G	A	184294876	3	1	142	1	0	0	0	0	1	0	0	0	5214	1087	38	1	1277	1	EPHB3	3	184294876	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	5358794	184294876	13727554	28	26774											
ADD1	118	broad.mit.edu	37	chr4	2930158	2930158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgccgcggaccctggcagcGatgggtctccaggcaagtcc	6	5	14	16	4	1	0	0	0	1	0	3	2	2	1	5	4	1	2	5	4	1	0			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:2930158G>A	ENST00000264758.7	+	15	2403	c.2215G>A	c.(2215-2217)Gat>Aat	p.D739N	ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000398129.1_Missense_Mutation_p.D708N|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000446856.1_Missense_Mutation_p.D708N|ADD1_ENST00000503455.2_3'UTR	NM_014189.3	NP_054908.2	P35611	ADDA_HUMAN	adducin 1 (alpha)	708					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCTGGCAGCGATGGGTCTCC	0.632													28	99					0	0	0	0	A	2930158	G	A	2930158	3	1	142	1	0	0	0	0	1	0	0	0	304	1058	37	1	2307	1	ADD1	4	2930158	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08		2930158	188224118	29	26775											
AFM	173	broad.mit.edu	37	chr4	74350097	74350097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagacgctcccagagtgttCaaaattacctgtaagtaaat	15	10	7	9	1	1	2	1	0	0	2	2	2	2	2	2	0	1	4	2	0	7	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:74350097C>T	ENST00000226355.3	+	3	353	c.260C>T	c.(259-261)tCa>tTa	p.S87L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	87	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCAGAGTGTTCAAAATTACCT	0.343													12	32					0	0	0	0	T	74350097	C	T	74350097	3	4	142	1	0	0	0	0	1	0	0	0	361	838	29	2	270	2	AFM	4	74350097	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	71419939	74350097	116804179	30	26776											
FNIP2	57600	broad.mit.edu	37	chr4	159753081	159753081	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcagttgccatgagttaCaaaggctccaccttaaagat	12	10	9	10	0	1	2	1	1	0	1	2	2	2	2	3	2	2	4	3	2	4	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:159753081C>T	ENST00000264433.6	+	4	525	c.450C>T	c.(448-450)taC>taT	p.Y150Y	FNIP2_ENST00000379346.3_Silent_p.Y173Y	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	150					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CCATGAGTTACAAAGGCTCCA	0.408													5	15					0	0	0	0	T	159753081	C	T	159753081	2	4	142	1	0	0	0	0	0	0	0	1	6021	489	17	4		4	FNIP2	4	159753081	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	85402984	159753081	31401195	31	26777											
WDR17	116966	broad.mit.edu	37	chr4	177071078	177071078	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataaatattctggcagacaGatcttgggaagaaattattg	16	12	9	4	0	2	3	0	0	2	3	2	4	2	4	0	2	0	1	0	2	7	6			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:177071078G>C	ENST00000393643.2	+	14	2270	c.2018G>C	c.(2017-2019)aGa>aCa	p.R673T	WDR17_ENST00000508596.1_Missense_Mutation_p.R673T|WDR17_ENST00000507824.2_Missense_Mutation_p.R680T|WDR17_ENST00000280190.4_Missense_Mutation_p.R697T	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	697										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTGGCAGACAGATCTTGGGAA	0.383													3	83					0	0	0	0	C	177071078	G	C	177071078	3	2	142	1	0	0	0	0	1	0	0	0	17373	942	33	2	2144	2	WDR17	4	177071078	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	17317997	177071078	14083198	32	26778											
FAT1	2195	broad.mit.edu	37	chr4	187522449	187522449	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgctatagtcagttcctcGagcatacatgacaaccgcat	12	10	8	11	2	1	1	1	1	0	0	3	3	2	1	2	0	4	4	2	0	4	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:187522449G>A	ENST00000441802.2	-	21	11823	c.11614C>T	c.(11614-11616)Cga>Tga	p.R3872*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3872	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCAGTTCCTCGAGCATACATG	0.393										HNSCC(5;0.00058)			11	27					0	0	0	0	A	187522449	G	A	187522449	4	1	142	1	0	0	0	0	0	1	0	0	5734	1066	37	1	2180	1	FAT1	4	187522449	Nonsense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	10451371	187522449	3631827	33	26779											
FAT1	2195	broad.mit.edu	37	chr4	187540720	187540742	+	Frame_Shift_Del	DEL	GCCAGTGCTGCTGTCTACATGAA	GCCAGTGCTGCTGTCTACATGAA	-																															gttctgagtagtgagatgagGccagtgctgctgtctacatg																										TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:187540720_187540742delGCCAGTGCTGCTGTCTACATGAA	ENST00000441802.2	-	10	7207_7229	c.6998_7020delTTCATGTAGACAGCAGCACTGGC	c.(6997-7020)tfs	p.FHVDSSTG2333fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2333	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGAGATGAGGCCAGTGCTGCTGTCTACATGAAAATGATCATG	0.48										HNSCC(5;0.00058)			8	154	---	---	---	---					-	187540742	GCCAGTGCTGCTGTCTACATGAA	-	187540720	7	5	142	1	0	1	0	1	0	0	0	0	5734	1190	42	0	6818	0	FAT1	4	187540720	Frame_Shift_Del	DEL	GCCAGTGCTGCTGTCTACATGAA	TCGA-CQ-6218-01A-11D-1912-08	18271	187540720	3613556	34	26780											
NUP155	9631	broad.mit.edu	37	chr5	37303483	37303483	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcaactttggccattcGgactagatgtggctccagaa	10	12	10	9	1	1	3	1	1	0	2	3	4	2	4	2	3	1	1	2	3	3	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:37303483G>A	ENST00000231498.3	-	28	3399	c.3196C>T	c.(3196-3198)Cga>Tga	p.R1066*	NUP155_ENST00000513532.1_Nonsense_Mutation_p.R1002*|NUP155_ENST00000381843.2_Nonsense_Mutation_p.R1007*|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1066					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGGCCATTCGGACTAGATGT	0.378													13	37					0	0	0	0	A	37303483	G	A	37303483	4	1	142	1	0	0	0	0	0	1	0	0	10827	1124	39	1	1011	1	NUP155	5	37303483	Nonsense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08		37303483	143611777	35	26781											
C7	730	broad.mit.edu	37	chr5	40936557	40936557	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgatatcgataaacCtcctcctaacatagaactta	13	13	4	11	1	0	2	0	1	0	1	4	3	3	2	4	0	3	0	4	0	7	6			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:40936557C>A	ENST00000313164.9	+	5	757	c.398C>A	c.(397-399)cCt>cAt	p.P133H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	133	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATCGATAAACCTCCTCCTAAC	0.403													17	26					6.94344e-10	1.09594e-09	1	0	A	40936557	C	A	40936557	3	1	142	1	0	0	0	0	1	0	0	0	2398	681	24	4	416	4	C7	5	40936557	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	3633074	40936557	139978703	36	26782											
CCDC125	202243	broad.mit.edu	37	chr5	68581236	68581236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttagaactgttttctgaAgggagcatacccaacagtct	11	12	8	10	0	3	2	0	1	3	1	3	3	3	3	1	1	4	2	1	1	5	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:68581236A>G	ENST00000383374.2	-	9	956	c.872T>C	c.(871-873)cTt>cCt	p.L291P	CCDC125_ENST00000396496.2_Silent_p.P386P|CCDC125_ENST00000511257.1_Silent_p.P261P|CCDC125_ENST00000396499.1_Silent_p.P386P|CCDC125_ENST00000460090.1_5'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	0						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TGTTTTCTGAAGGGAGCATAC	0.418													17	57					0	0	0	0	G	68581236	A	G	68581236	3	3	142	1	0	0	0	0	1	0	0	0	2786	59	3	5	385	5	CCDC125	5	68581236	Missense_Mutation	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	27644679	68581236	112334024	37	26783											
LYSMD3	116068	broad.mit.edu	37	chr5	89814695	89814695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actatacagtttatgatcatCttgttggctgaaatgtattc	11	17	7	6	0	2	2	1	2	1	0	3	2	2	2	0	1	1	4	0	1	5	8			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:89814695C>G	ENST00000315948.6	-	3	1006	c.862G>C	c.(862-864)Gat>Cat	p.D288H	LYSMD3_ENST00000500869.2_Missense_Mutation_p.K129N|LYSMD3_ENST00000509384.1_3'UTR	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	288					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TTATGATCATCTTGTTGGCTG	0.388													3	113					0	0	0	0	G	89814695	C	G	89814695	3	3	142	1	0	0	0	0	1	0	0	0	9191	913	32	2	62	2	LYSMD3	5	89814695	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	21233459	89814695	91100565	38	26784											
SPATA9	83890	broad.mit.edu	37	chr5	94994576	94994576	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggattcttcttcctggaaGatgttctttaccttcttcag	7	18	7	9	0	5	1	1	0	4	1	6	3	6	3	2	2	1	1	2	2	2	8			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:94994576G>C	ENST00000274432.8	-	5	657	c.516C>G	c.(514-516)atC>atG	p.I172M	SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	172					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CTTCCTGGAAGATGTTCTTTA	0.383													12	53					0	0	0	0	C	94994576	G	C	94994576	3	2	142	1	0	0	0	0	1	0	0	0	15106	932	33	2	252	2	SPATA9	5	94994576	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	5179881	94994576	85920684	39	26785											
KCNN2	3781	broad.mit.edu	37	chr5	113831673	113831673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggattgttaccctggaaAcaaaactagagactttgatt	15	11	9	6	0	0	3	0	1	0	2	0	6	0	5	1	2	3	1	1	2	5	5			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:113831673A>G	ENST00000512097.3	+	9	2552	c.1534A>G	c.(1534-1536)Aca>Gca	p.T512A	RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Missense_Mutation_p.T164A|KCNN2_ENST00000264773.3_Missense_Mutation_p.T512A			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	512						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TACCCTGGAAACAAAACTAGA	0.448													20	116					0	0	0	0	G	113831673	A	G	113831673	3	3	142	1	0	0	0	0	1	0	0	0	8132	43	2	5	1564	5	KCNN2	5	113831673	Missense_Mutation	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	18837097	113831673	67083587	40	26786											
PCDHB4	56131	broad.mit.edu	37	chr5	140501700	140501700	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgttggaggaaacagagagCggctcctttgtagcccatct	9	10	13	9	1	1	1	0	0	1	1	2	4	2	3	2	3	3	3	2	3	2	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:140501700C>T	ENST00000194152.1	+	1	120	c.120C>T	c.(118-120)agC>agT	p.S40S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		40	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACAGAGAGCGGCTCCTTTG	0.537													11	57					0	0	0	0	T	140501700	C	T	140501700	2	4	142	1	0	0	0	0	0	0	0	1	11615	767	27	1		1	PCDHB4	5	140501700	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	26670027	140501700	40413560	41	26787											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741612	140741612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgggcgacagggacgCggcccgccagcgcctgctgg	4	5	17	15	5	0	0	0	0	0	0	0	2	0	1	4	4	3	1	4	4	0	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:140741612C>T	ENST00000522605.1	+	1	1910	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGGGACGCGGCCCGCCAG	0.692													8	17					0	0	0	0	T	140741612	C	T	140741612	3	4	142	1	0	0	0	0	1	0	0	0	11634	768	27	1	1912	1	PCDHGB2	5	140741612	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	239912	140741612	40173648	42	26788											
SH3TC2	79628	broad.mit.edu	37	chr5	148386619	148386619	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccaggcggtgaaaggccAccagctcttgcctctgatct	8	9	11	13	1	3	2	0	2	3	0	3	2	3	2	4	3	3	1	4	3	2	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:148386619A>G	ENST00000515425.1	-	16	3601	c.3500T>C	c.(3499-3501)gTg>gCg	p.V1167A	SH3TC2_ENST00000538184.1_Silent_p.G711G|SH3TC2_ENST00000512049.1_Missense_Mutation_p.V1160A|SH3TC2_ENST00000502274.1_Missense_Mutation_p.V29A	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1167							binding			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)			GTGAAAGGCCACCAGCTCTTG	0.488													18	80					0	0	0	0	G	148386619	A	G	148386619	3	3	142	1	0	0	0	0	1	0	0	0	14350	159	6	5	374	5	SH3TC2	5	148386619	Missense_Mutation	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	7645007	148386619	32528641	43	26789											
ARSI	340075	broad.mit.edu	37	chr5	149677008	149677008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggctgtgcggttatattcGgccaggcgagccagcagggt	7	9	16	9	3	0	0	0	0	0	0	1	1	0	0	2	5	3	3	2	5	2	3	rs141146390		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:149677008G>A	ENST00000328668.7	-	2	2058	c.1479C>T	c.(1477-1479)gcC>gcT	p.A493A		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	493						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTTATATTCGGCCAGGCGAG	0.632													25	95					0	0	0	0	A	149677008	G	A	149677008	2	1	142	1	0	0	0	0	0	0	0	1	998	1103	39	1		1	ARSI	5	149677008	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	1290389	149677008	31238252	44	26790											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216707	26216707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcccatggccttggatgaGatgccagtatcggggtgaac	9	9	14	9	1	0	2	0	2	0	1	1	4	0	3	3	4	3	1	3	4	2	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:26216707G>C	ENST00000244601.3	-	1	165	c.165C>G	c.(163-165)atC>atG	p.I55M		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	55					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CCTTGGATGAGATGCCAGTAT	0.537													39	206					0	0	0	0	C	26216707	G	C	26216707	3	2	142	1	0	0	0	0	1	0	0	0	7196	932	33	2	219	2	HIST1H2BG	6	26216707	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08		26216707	144898360	45	26791											
OR2J2	26707	broad.mit.edu	37	chr6	29142034	29142034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcatgagctccatttttGttctcatacctctcattctc	6	18	5	12	0	4	1	3	1	3	0	8	1	5	1	2	1	2	2	2	1	1	5			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:29142034G>T	ENST00000377167.2	+	1	724	c.622G>T	c.(622-624)Gtt>Ttt	p.V208F		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTCCATTTTTGTTCTCATACC	0.468													43	109					2.26627e-22	3.73871e-22	1	0	T	29142034	G	T	29142034	3	4	142	1	0	0	0	0	1	0	0	0	11074	1377	48	4	624	4	OR2J2	6	29142034	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	2925327	29142034	141973033	46	26792											
PSMB9	5698	broad.mit.edu	37	chr6	32826344	32826344	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatgggaaggaagtagattAtgaggaacaggaagagaaat	19	6	14	2	0	0	3	0	1	0	2	0	8	0	7	0	4	1	1	0	4	7	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:32826344A>T	ENST00000453265.2	+	4	531	c.462A>T	c.(460-462)ttA>ttT	p.L154F	PSMB9_ENST00000374859.2_Intron|PSMB9_ENST00000395330.1_Intron			P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			large_intestine(4)|lung(4)|skin(1)	9						GAAGTAGATTATGAGGAACAG	0.507													6	16					0	0	0	0	T	32826344	A	T	32826344	3	4	142	1	0	0	0	0	1	0	0	0	12763	464	16	5		5	PSMB9	6	32826344	Missense_Mutation	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	3684310	32826344	138288723	47	26793											
KCNK5	8645	broad.mit.edu	37	chr6	39158824	39158824	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagccccctgctgggggcTctcctcccctgccaagttgt	3	11	10	17	0	2	0	1	0	1	0	4	0	3	0	6	2	3	3	6	2	1	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:39158824T>C	ENST00000359534.3	-	5	1680	c.1342A>G	c.(1342-1344)Agc>Ggc	p.S448G		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	448					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TGCTGGGGGCTCTCCTCCCCT	0.627													4	12					0	0	0	0	C	39158824	T	C	39158824	3	2	142	1	0	0	0	0	1	0	0	0	8122	1551	54	5	161	5	KCNK5	6	39158824	Missense_Mutation	SNP	T	TCGA-CQ-6218-01A-11D-1912-08	6332480	39158824	131956243	48	26794											
LGSN	51557	broad.mit.edu	37	chr6	63989944	63989944	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaaataaaatactctaaGaatttatttctctctgcagc	14	16	3	8	0	4	1	0	0	4	1	5	1	4	1	0	0	3	1	0	0	8	8			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:63989944G>A	ENST00000370657.4	-	4	1545	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	504					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AATACTCTAAGAATTTATTTC	0.328													9	55					0	0	0	0	A	63989944	G	A	63989944	2	1	142	1	0	0	0	0	0	0	0	1	8813	933	33	2		2	LGSN	6	63989944	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	24831120	63989944	107125123	49	26795											
MYO6	4646	broad.mit.edu	37	chr6	76591501	76591501	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacatgcagtcgctggaaGaaagttcagtggtgctcact	10	10	11	10	1	3	1	3	0	0	1	4	2	3	2	0	2	2	4	0	2	2	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:76591501G>A	ENST00000369981.3	+	23	2661	c.2382G>A	c.(2380-2382)aaG>aaA	p.K794K	MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369985.4_Silent_p.K794K|MYO6_ENST00000369975.1_Silent_p.K794K|MYO6_ENST00000369977.3_Silent_p.K794K			Q9UM54	MYO6_HUMAN	myosin VI	794	Required for binding calmodulin (By similarity).				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTCGCTGGAAGAAAGTTCAGT	0.418													23	77					0	0	0	0	A	76591501	G	A	76591501	2	1	142	1	0	0	0	0	0	0	0	1	10151	933	33	2		2	MYO6	6	76591501	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	12601557	76591501	94523566	50	26796											
MDN1	23195	broad.mit.edu	37	chr6	90392899	90392899	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctccctcagtgccctgttCagattctgaatggaagacag	9	11	10	11	0	4	3	2	1	2	2	5	4	4	4	2	1	1	1	2	1	2	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:90392899C>T	ENST00000369393.3	-	73	12169	c.12054G>A	c.(12052-12054)ctG>ctA	p.L4018L	MDN1_ENST00000428876.1_Silent_p.L4018L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4018					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGCCCTGTTCAGATTCTGAA	0.547													18	47					0	0	0	0	T	90392899	C	T	90392899	2	4	142	1	0	0	0	0	0	0	0	1	9484	813	29	2		2	MDN1	6	90392899	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	13801398	90392899	80722168	51	26797											
RFX6	222546	broad.mit.edu	37	chr6	117246698	117246698	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcatggtttccagcgaCgctgtgaagaatgaaagcca	12	7	14	8	2	0	3	0	2	0	1	1	5	1	4	2	2	3	3	2	2	3	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:117246698C>T	ENST00000332958.2	+	16	1777	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	587					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTTCCAGCGACGCTGTGAAGA	0.517													30	95					0	0	0	0	T	117246698	C	T	117246698	2	4	142	1	0	0	0	0	0	0	0	1	13349	535	19	1		1	RFX6	6	117246698	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	26853799	117246698	53868369	52	26798											
CLVS2	134829	broad.mit.edu	37	chr6	123319045	123319045	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggatatggtcatcaccagGccggacattggctttctgcg	8	10	13	10	2	3	0	2	0	1	0	3	2	3	2	2	5	1	1	2	5	1	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:123319045G>C	ENST00000275162.4	+	2	1458	c.123G>C	c.(121-123)agG>agC	p.R41S	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	41					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TCATCACCAGGCCGGACATTG	0.567													19	53					0	0	0	0	C	123319045	G	C	123319045	3	2	142	1	0	0	0	0	1	0	0	0	3602	1194	42	4	125	4	CLVS2	6	123319045	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	6072347	123319045	47796022	53	26799											
AKAP7	9465	broad.mit.edu	37	chr6	131540807	131540807	+	Frame_Shift_Del	DEL	A	A	-																															tttttcatttcaagggagtgAaaaaaatagatcctgattta																										TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:131540807delA	ENST00000431975.2	+	7	807	c.709delA	c.(709-711)aafs	p.K238fs	AKAP7_ENST00000537868.1_5'UTR|AKAP7_ENST00000541650.1_Frame_Shift_Del_p.K237fs|AKAP7_ENST00000263050.3_5'UTR|AKAP7_ENST00000368123.4_Frame_Shift_Del_p.K216fs	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		CAAGGGAGTGAAAAAAATAGA	0.308													7	34	---	---	---	---					-	131540807	A	-	131540807	7	5	142	1	0	1	0	1	0	0	0	0	456	247	9	0	665	0	AKAP7	6	131540807	Frame_Shift_Del	DEL	A	TCGA-CQ-6218-01A-11D-1912-08	8221762	131540807	39574260	54	26800											
C6orf118	168090	broad.mit.edu	37	chr6	165706919	165706919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctgatcgttcctttgcaGactgcagcaatgccacctcc	7	11	8	15	1	0	2	0	1	0	1	3	2	2	2	5	0	5	4	5	0	1	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:165706919G>A	ENST00000543069.1	-	6	1372	c.791C>T	c.(790-792)tCt>tTt	p.S264F	C6orf118_ENST00000230301.8_Missense_Mutation_p.S368F			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	368										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTCCTTTGCAGACTGCAGCAA	0.453													39	109					0	0	0	0	A	165706919	G	A	165706919	3	1	142	1	0	0	0	0	1	0	0	0	2344	942	33	2	322	2	C6orf118	6	165706919	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	34166112	165706919	5408148	55	26801											
DNAH11	8701	broad.mit.edu	37	chr7	21882167	21882167	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctccgtttaggtataTcaggattggagataaagaat	12	15	10	4	1	1	2	1	0	0	2	2	4	2	3	1	3	1	3	1	3	6	8			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr7:21882167T>A	ENST00000328843.6	+	67	10749	c.10718T>A	c.(10717-10719)aTc>aAc	p.I3573N	DNAH11_ENST00000409508.3_Missense_Mutation_p.I3566N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3573	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTAGGTATATCAGGATTGGA	0.388									Kartagener syndrome				8	39					0	0	0	0	A	21882167	T	A	21882167	3	1	142	1	0	0	0	0	1	0	0	0	4636	1435	50	5	10981	5	DNAH11	7	21882167	Missense_Mutation	SNP	T	TCGA-CQ-6218-01A-11D-1912-08		21882167	137256496	56	26802											
TBX20	57057	broad.mit.edu	37	chr7	35244106	35244106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttggggttgtctgactctCatcccccaagacatcttctt	7	15	7	12	0	4	2	1	1	4	1	6	2	5	2	2	2	0	1	2	2	1	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr7:35244106C>T	ENST00000408931.3	-	7	1505	c.979G>A	c.(979-981)Gag>Aag	p.E327K		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	327						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GTCTGACTCTCATCCCCCAAG	0.512													10	36					0	0	0	0	T	35244106	C	T	35244106	3	4	142	1	0	0	0	0	1	0	0	0	15750	835	29	2	371	2	TBX20	7	35244106	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	13361939	35244106	123894557	57	26803											
ABCA13	154664	broad.mit.edu	37	chr7	48284272	48284272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggagctctcagaaatgcGatagctcagaatttacattt	13	12	9	7	1	2	2	2	0	1	2	3	5	2	3	0	1	4	2	0	1	4	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr7:48284272G>A	ENST00000435803.1	+	11	1386	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	454					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						TCAGAAATGCGATAGCTCAGA	0.418													18	53					0	0	0	0	A	48284272	G	A	48284272	2	1	142	1	0	0	0	0	0	0	0	1	31	1045	37	1		1	ABCA13	7	48284272	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	13040166	48284272	110854391	58	26804											
SEMA3A	10371	broad.mit.edu	37	chr7	83764187	83764187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacatacagcctactccgttCctcatccaaaaggaaggtat	14	9	6	12	1	1	0	1	0	0	0	4	1	4	1	4	2	4	2	4	2	7	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr7:83764187C>T	ENST00000265362.3	-	2	507	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.E65K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	65	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTACTCCGTTCCTCATCCAAA	0.383													17	40					0	0	0	0	T	83764187	C	T	83764187	3	4	142	1	0	0	0	0	1	0	0	0	14111	864	30	2	2186	2	SEMA3A	7	83764187	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	35479915	83764187	75374476	59	26805											
ASAH1	427	broad.mit.edu	37	chr8	17918918	17918918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccagaactgttctagtgagGaaccctatccacatgacatc	12	10	7	12	0	1	3	0	2	1	1	4	4	3	4	3	1	2	1	3	1	4	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:17918918G>C	ENST00000262097.6	-	10	1064	c.753C>G	c.(751-753)ttC>ttG	p.F251L	ASAH1_ENST00000417108.2_Missense_Mutation_p.F161L|ASAH1_ENST00000314146.10_Missense_Mutation_p.F245L|ASAH1_ENST00000520781.1_Missense_Mutation_p.F226L|ASAH1_ENST00000381733.4_Missense_Mutation_p.F267L	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	251					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTCTAGTGAGGAACCCTATCC	0.328													12	48					0	0	0	0	C	17918918	G	C	17918918	3	2	142	1	0	0	0	0	1	0	0	0	1010	1165	41	2	454	2	ASAH1	8	17918918	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08		17918918	128445104	60	26806											
ENTPD4	9583	broad.mit.edu	37	chr8	23306270	23306270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctttgaaatttcttgTctctggttagtcgcccatac	7	17	6	11	1	2	1	0	1	2	0	4	1	2	1	2	1	2	1	2	1	4	6			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:23306270T>C	ENST00000358689.4	-	3	426	c.191A>G	c.(190-192)gAc>gGc	p.D64G	ENTPD4_ENST00000356206.6_Missense_Mutation_p.D64G|ENTPD4_ENST00000417069.2_Missense_Mutation_p.D64G	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	64					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AAATTTCTTGTCTCTGGTTAG	0.378													17	58					0	0	0	0	C	23306270	T	C	23306270	3	2	142	1	0	0	0	0	1	0	0	0	5179	1667	58	5	1703	5	ENTPD4	8	23306270	Missense_Mutation	SNP	T	TCGA-CQ-6218-01A-11D-1912-08	5387352	23306270	123057752	61	26807											
DOCK5	80005	broad.mit.edu	37	chr8	25267635	25267635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctccccatcgttgcagacaGatggaatcgcggccactcct	8	8	10	15	3	0	2	0	0	0	2	4	3	2	3	4	2	1	3	4	2	1	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:25267635G>A	ENST00000276440.7	+	51	5469	c.5425G>A	c.(5425-5427)Gat>Aat	p.D1809N		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1809	Pro-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTTGCAGACAGATGGAATCGC	0.552													9	17					0	0	0	0	A	25267635	G	A	25267635	3	1	142	1	0	0	0	0	1	0	0	0	4726	942	33	2	5627	2	DOCK5	8	25267635	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	1961365	25267635	121096387	62	26808											
CSPP1	79848	broad.mit.edu	37	chr8	68028171	68028171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatagactaaagcagtttaGtgtggcaccaagacactttg	13	11	10	7	0	0	3	0	1	0	2	0	3	0	3	1	1	1	3	1	1	5	5			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:68028171G>T	ENST00000262210.5	+	11	1326	c.1295G>T	c.(1294-1296)aGt>aTt	p.S432I	CSPP1_ENST00000412460.1_Missense_Mutation_p.S138I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	467						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGCAGTTTAGTGTGGCACCA	0.413													14	81					4.3838e-07	6.80888e-07	1	0	T	68028171	G	T	68028171	3	4	142	1	0	0	0	0	1	0	0	0	3994	1029	36	4	1450	4	CSPP1	8	68028171	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	42760536	68028171	78335851	63	26809											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585257	70585257	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaattctccctgggtgctGaaagctgggcaagatctagt	9	11	13	8	0	2	2	0	1	2	1	3	3	2	3	1	3	2	3	1	3	4	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:70585257G>A	ENST00000260126.3	-	10	3100	c.2394C>T	c.(2392-2394)ttC>ttT	p.F798F	SLCO5A1_ENST00000530307.1_Silent_p.F743F|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	798						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCTGGGTGCTGAAAGCTGGGC	0.577													26	120					0	0	0	0	A	70585257	G	A	70585257	2	1	142	1	0	0	0	0	0	0	0	1	14819	1281	45	2		2	SLCO5A1	8	70585257	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	2557086	70585257	75778765	64	26810											
RUNX1T1	862	broad.mit.edu	37	chr8	93026818	93026818	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcttaccactagtcccaGaacgagggtgcgaactcttt	9	12	9	11	2	1	1	0	0	1	1	2	3	2	1	2	1	5	1	2	1	4	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:93026818G>A	ENST00000523629.1	-	4	911	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	RUNX1T1_ENST00000360348.2_Silent_p.L116L|RUNX1T1_ENST00000520724.1_Silent_p.L116L|RUNX1T1_ENST00000436581.2_Silent_p.L164L|RUNX1T1_ENST00000396218.1_Silent_p.L126L|RUNX1T1_ENST00000265814.3_Silent_p.L153L|RUNX1T1_ENST00000518844.1_Silent_p.L126L|RUNX1T1_ENST00000521553.1_Silent_p.L116L|RUNX1T1_ENST00000422361.2_Silent_p.L116L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	153	TAFH.				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)			ACTAGTCCCAGAACGAGGGTG	0.493													41	74					0	0	0	0	A	93026818	G	A	93026818	2	1	142	1	0	0	0	0	0	0	0	1	13832	933	33	2		2	RUNX1T1	8	93026818	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	22441561	93026818	53337204	65	26811											
CSMD3	114788	broad.mit.edu	37	chr8	113564847	113564847	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatatttccaggatctaccTcaatcatccacatgcaacgc	13	10	4	14	1	3	0	2	0	1	0	5	1	5	1	3	1	3	1	3	1	5	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:113564847T>A	ENST00000297405.5	-	26	4581	c.4337A>T	c.(4336-4338)gAg>gTg	p.E1446V	CSMD3_ENST00000352409.3_Missense_Mutation_p.E1446V|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1406V|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1342V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1446	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGATCTACCTCAATCATCCA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	34					0	0	0	0	A	113564847	T	A	113564847	3	1	142	1	0	0	0	0	1	0	0	0	3978	1551	54	5	6970	5	CSMD3	8	113564847	Missense_Mutation	SNP	T	TCGA-CQ-6218-01A-11D-1912-08	20538029	113564847	32799175	66	26812											
FER1L6	654463	broad.mit.edu	37	chr8	125094566	125094566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcccaaaagagtccCtgctctccatcctgatctat	10	11	4	16	0	2	2	0	1	2	1	6	2	5	2	5	0	1	1	5	0	3	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:125094566C>T	ENST00000522917.1	+	33	4464	c.4258C>T	c.(4258-4260)Ctg>Ttg	p.L1420L	FER1L6_ENST00000399018.1_Silent_p.L1420L|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1420	C2 5.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAAAGAGTCCCTGCTCTCCAT	0.488													43	149					0	0	0	0	T	125094566	C	T	125094566	2	4	142	1	0	0	0	0	0	0	0	1	5860	680	24	4		4	FER1L6	8	125094566	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	11529719	125094566	21269456	67	26813											
LRRC6	23639	broad.mit.edu	37	chr8	133622423	133622423	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacctaccttgggcatgcAgatgaccaaatgacccgttg	11	9	10	11	1	0	4	0	3	0	1	0	4	0	4	4	1	2	3	4	1	2	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:133622423A>T	ENST00000519595.1	-	10	1227	c.1129T>A	c.(1129-1131)Tgc>Agc	p.C377S	LRRC6_ENST00000250173.1_Missense_Mutation_p.C377S|LRRC6_ENST00000518642.1_Missense_Mutation_p.C374S			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	377	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTGGGCATGCAGATGACCAAA	0.433													12	78					0	0	0	0	T	133622423	A	T	133622423	3	4	142	1	0	0	0	0	1	0	0	0	9080	188	7	5	283	5	LRRC6	8	133622423	Missense_Mutation	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	8527857	133622423	12741599	68	26814											
KIAA2026	158358	broad.mit.edu	37	chr9	5922609	5922609	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatgttgttctgtacctttCtgttgaagtggtggcacttc	6	17	10	8	0	2	1	0	1	2	0	3	1	2	1	1	2	1	5	1	2	3	6			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:5922609C>T	ENST00000399933.3	-	8	3386	c.3387G>A	c.(3385-3387)caG>caA	p.Q1129Q	KIAA2026_ENST00000381461.2_Silent_p.Q1099Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1129										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTGTACCTTTCTGTTGAAGTG	0.368													4	83					0	0	0	0	T	5922609	C	T	5922609	2	4	142	1	0	0	0	0	0	0	0	1	8321	912	32	2		2	KIAA2026	9	5922609	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08		5922609	135290822	69	26815											
TRPM3	80036	broad.mit.edu	37	chr9	73457992	73457992	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctatggtgcatatctttcctCgagacttagaggcatgatcc	9	13	9	10	1	1	3	0	1	1	2	4	4	3	3	2	2	1	2	2	2	3	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:73457992C>G	ENST00000377110.2	-	5	971	c.728G>C	c.(727-729)cGa>cCa	p.R243P	TRPM3_ENST00000377101.1_Missense_Mutation_p.R90P|TRPM3_ENST00000377111.2_Missense_Mutation_p.R243P|TRPM3_ENST00000396285.1_Missense_Mutation_p.R90P|TRPM3_ENST00000377106.1_Missense_Mutation_p.R90P|TRPM3_ENST00000408909.2_Missense_Mutation_p.R90P|TRPM3_ENST00000361823.5_Missense_Mutation_p.R90P|TRPM3_ENST00000423814.3_Missense_Mutation_p.R245P|TRPM3_ENST00000358082.3_Missense_Mutation_p.R90P|TRPM3_ENST00000396283.1_Missense_Mutation_p.R90P|TRPM3_ENST00000357533.2_Missense_Mutation_p.R245P|TRPM3_ENST00000377097.3_Missense_Mutation_p.R90P|TRPM3_ENST00000360823.2_Missense_Mutation_p.R90P|TRPM3_ENST00000396280.5_Missense_Mutation_p.R90P|TRPM3_ENST00000377105.1_Missense_Mutation_p.R90P|TRPM3_ENST00000396292.4_Missense_Mutation_p.R90P	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	243						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TATCTTTCCTCGAGACTTAGA	0.423													7	38					0	0	0	0	G	73457992	C	G	73457992	3	3	142	1	0	0	0	0	1	0	0	0	16682	884	31	3	4602	3	TRPM3	9	73457992	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	67535383	73457992	67755439	70	26816											
TRPM6	140803	broad.mit.edu	37	chr9	77377455	77377455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagaacctcagtctggatgtCctgttcagttgccagcacat	10	11	9	11	0	3	1	2	0	1	1	4	2	4	2	3	1	3	3	3	1	2	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:77377455C>T	ENST00000451710.3	-	26	4369	c.4132G>A	c.(4132-4134)Gac>Aac	p.D1378N	TRPM6_ENST00000449912.2_Missense_Mutation_p.D1373N|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1378N|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1373N|TRPM6_ENST00000360774.1_Missense_Mutation_p.D1378N			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1378					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.D1378Y(1)		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						GTCTGGATGTCCTGTTCAGTT	0.512													26	89					0	0	0	0	T	77377455	C	T	77377455	3	4	142	1	0	0	0	0	1	0	0	0	16685	855	30	2	1992	2	TRPM6	9	77377455	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	3919463	77377455	63835976	71	26817											
C9orf3	84909	broad.mit.edu	37	chr9	97522832	97522832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactaaacctgaagggcgatCggttacatggacctcagacc	13	7	10	11	2	1	2	1	1	0	1	2	4	1	3	3	3	3	1	3	3	5	2	rs145414026		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:97522832C>T	ENST00000375315.2	+	1	767	c.767C>T	c.(766-768)tCg>tTg	p.S256L	C9orf3_ENST00000297979.5_Missense_Mutation_p.S256L|C9orf3_ENST00000277198.2_Missense_Mutation_p.S256L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	256					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GAAGGGCGATCGGTTACATGG	0.488													5	18					0	0	0	0	T	97522832	C	T	97522832	3	4	142	1	0	0	0	0	1	0	0	0	2502	893	31	1	769	1	C9orf3	9	97522832	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	20145377	97522832	43690599	72	26818											
OBP2A	29991	broad.mit.edu	37	chr9	138439759	138439759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggagctgcccgggaCggacgactacgtcttttact	7	9	12	13	4	1	0	0	0	1	0	1	4	1	3	2	3	5	2	2	3	2	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:138439759C>T	ENST00000539850.1	+	4	346	c.320C>T	c.(319-321)aCg>aTg	p.T107M	OBP2A_ENST00000371776.1_Missense_Mutation_p.T107M|OBP2A_ENST00000340780.3_Missense_Mutation_p.T107M|OBP2A_ENST00000342114.4_Silent_p.D62D			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	107					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGCCCGGGACGGACGACTAC	0.607													10	26					0	0	0	0	T	138439759	C	T	138439759	3	4	142	1	0	0	0	0	1	0	0	0	10881	536	19	1	334	1	OBP2A	9	138439759	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	40916927	138439759	2773672	73	26819											
PNPLA7	375775	broad.mit.edu	37	chr9	140437130	140437130	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctccagccgcccgtcctgCaccacacagatgctggggtc	7	6	10	18	2	0	1	0	0	0	1	3	1	2	1	6	2	3	2	6	2	0	0			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:140437130C>T	ENST00000406427.1	-	7	966	c.630G>A	c.(628-630)gtG>gtA	p.V210V	PNPLA7_ENST00000277531.4_Silent_p.V185V	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	185					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCCGTCCTGCACCACACAGA	0.642													17	40					0	0	0	0	T	140437130	C	T	140437130	2	4	142	1	0	0	0	0	0	0	0	1	12242	697	25	4		4	PNPLA7	9	140437130	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	1997371	140437130	776301	74	26820											
KIF5B	3799	broad.mit.edu	37	chr10	32329357	32329357	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgtttgtccatatgcaaaTattgttccattatatccttc	10	18	5	8	0	0	0	0	0	0	0	4	1	3	0	3	0	1	3	3	0	5	8	rs147256984		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:32329357T>C	ENST00000302418.4	-	3	700	c.243A>G	c.(241-243)atA>atG	p.I81M		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	81	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CATATGCAAATATTGTTCCAT	0.328			T	"RET, ALK"	NSCLC								13	43					0	0	0	0	C	32329357	T	C	32329357	3	2	142	1	0	0	0	0	1	0	0	0	8357	1396	49	5	2740	5	KIF5B	10	32329357	Missense_Mutation	SNP	T	TCGA-CQ-6218-01A-11D-1912-08		32329357	103205390	75	26821											
POLR3A	11128	broad.mit.edu	37	chr10	79737376	79737376	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcccatgatgatgcactCagacacccctgaaaccaacc	13	7	6	15	0	1	4	1	3	0	1	2	5	2	4	5	0	3	1	5	0	2	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:79737376C>A	ENST00000372371.3	-	31	4170	c.4033G>T	c.(4033-4035)Gag>Tag	p.E1345*		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1345					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATGATGCACTCAGACACCCCT	0.478													17	59					0.00074312	0.00111851	1	0	A	79737376	C	A	79737376	4	1	142	1	0	0	0	0	0	1	0	0	12300	835	29	2	143	2	POLR3A	10	79737376	Nonsense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	47408019	79737376	55797371	76	26822											
GRID1	2894	broad.mit.edu	37	chr10	87898641	87898641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcggcgaagcgtgtcccGgtagcgattcagctcctctg	5	8	15	13	6	2	0	1	0	1	0	4	2	4	0	2	3	3	2	2	3	2	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:87898641G>A	ENST00000327946.7	-	4	746	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	221						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGCGTGTCCCGGTAGCGATTC	0.592										Multiple Myeloma(13;0.14)			41	133					0	0	0	0	A	87898641	G	A	87898641	3	1	142	1	0	0	0	0	1	0	0	0	6821	1115	39	1	2420	1	GRID1	10	87898641	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	8161265	87898641	47636106	77	26823											
AGAP11	119385	broad.mit.edu	37	chr10	88768495	88768495	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaagcttaggtgattatatGaagaatattcataaaaaaga	19	12	7	3	0	2	4	2	2	0	2	2	4	2	4	0	1	1	1	0	1	10	6			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:88768495G>A	ENST00000444431.1	+	0	3095				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GTGATTATATGAAGAATATTC	0.443													55	197					0	0	0	0	A	88768495	G	A	88768495	1	1	142	0	1	0	0	0	0	0	0	0	367	1290	45	2		2	AGAP11	10	88768495	RNA	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	869854	88768495	46766252	78	26824											
CHUK	1147	broad.mit.edu	37	chr10	101953836	101953836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatattactgagggccaCttccaccttagggagtagat	10	13	10	8	0	0	3	0	2	0	1	1	4	1	4	3	2	1	1	3	2	4	6			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:101953836C>A	ENST00000370397.7	-	18	1965	c.1879G>T	c.(1879-1881)Gtg>Ttg	p.V627L	CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	627					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CTGAGGGCCACTTCCACCTTA	0.423													13	52					0.00010058	0.000153766	1	0	A	101953836	C	A	101953836	3	1	142	1	0	0	0	0	1	0	0	0	3445	565	20	4	374	4	CHUK	10	101953836	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	13185341	101953836	33580911	79	26825											
ABLIM1	3983	broad.mit.edu	37	chr10	116251550	116251550	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttgagtccacctcacCttgaagatacatttcctctc	8	15	5	13	0	3	3	1	2	2	1	6	3	5	3	4	0	1	1	4	0	2	5			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:116251550C>T	ENST00000369252.4	-	7	1103	c.802_splice	c.e7+1	p.G268_splice	ABLIM1_ENST00000369253.2_Splice_Site_p.G12_splice|ABLIM1_ENST00000277895.5_Splice_Site_p.G328_splice|ABLIM1_ENST00000533213.2_Splice_Site_p.G268_splice|ABLIM1_ENST00000392952.3_Splice_Site_p.G12_splice|ABLIM1_ENST00000369266.3_Splice_Site_p.G12_splice	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	328	LIM zinc-binding 3.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TCCACCTCACCTTGAAGATAC	0.438													25	94					0	0	0	0	T	116251550	C	T	116251550	5	4	142	1	0	0	0	0	0	0	1	0	94	695	24	4	1506	4	ABLIM1	10	116251550	Splice_Site	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	14297714	116251550	19283197	80	26826											
KCNK18	338567	broad.mit.edu	37	chr10	118969311	118969311	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaacttggcacatgtccttCacgcccaagctgcagcatgg	10	8	9	14	1	1	0	1	0	0	0	2	0	2	0	2	2	4	4	2	2	2	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:118969311C>G	ENST00000334549.1	+	3	656	c.656C>G	c.(655-657)tCa>tGa	p.S219*		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	219						integral to membrane|plasma membrane		p.S219L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		ACATGTCCTTCACGCCCAAGC	0.532													14	51					0	0	0	0	G	118969311	C	G	118969311	4	3	142	1	0	0	0	0	0	1	0	0	8118	838	29	2	666	2	KCNK18	10	118969311	Nonsense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	2717761	118969311	16565436	81	26827											
PDZD8	118987	broad.mit.edu	37	chr10	119043299	119043299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttggaccacagacctccGtgtcactgccttcgttgtct	5	14	9	13	2	2	1	1	0	1	1	4	2	3	2	4	1	1	2	4	1	0	3	rs148717941		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:119043299G>A	ENST00000334464.5	-	5	3184	c.2945C>T	c.(2944-2946)aCg>aTg	p.T982M		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	982					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACAGACCTCCGTGTCACTGCC	0.478													79	257					0	0	0	0	A	119043299	G	A	119043299	3	1	142	1	0	0	0	0	1	0	0	0	11776	1145	40	1	523	1	PDZD8	10	119043299	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	73988	119043299	16491448	82	26828											
IRF7	3665	broad.mit.edu	37	chr11	613301	613301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcggagcctgggggtccgCccacctcccagtacaccttg	5	7	13	16	2	0	0	0	0	0	0	2	1	2	1	6	4	2	1	6	4	1	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:613301C>T	ENST00000397566.1	-	7	1590	c.1181G>A	c.(1180-1182)gGc>gAc	p.G394D	IRF7_ENST00000330243.5_Missense_Mutation_p.G394D|IRF7_ENST00000397570.1_Missense_Mutation_p.G352D|IRF7_ENST00000525445.1_Missense_Mutation_p.G275D|IRF7_ENST00000348655.6_Missense_Mutation_p.G352D|IRF7_ENST00000397574.2_Missense_Mutation_p.G381D|IRF7_ENST00000397562.3_Missense_Mutation_p.G88D	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	381					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGGGTCCGCCCACCTCCCA	0.672													7	27					0	0	0	0	T	613301	C	T	613301	3	4	142	1	0	0	0	0	1	0	0	0	7888	739	26	4	381	4	IRF7	11	613301	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08		613301	134393215	83	26829											
OR51Q1	390061	broad.mit.edu	37	chr11	5444060	5444060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgccttgctcattattatCgtggatcctctgctcattgt	5	18	7	11	1	3	0	2	0	1	0	5	1	4	1	2	1	3	2	2	1	2	5			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:5444060C>T	ENST00000300778.4	+	1	720	c.630C>T	c.(628-630)atC>atT	p.I210I	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTATTATCGTGGATCCTC	0.502													39	119					0	0	0	0	T	5444060	C	T	5444060	2	4	142	1	0	0	0	0	0	0	0	1	11175	874	31	1		1	OR51Q1	11	5444060	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	4830759	5444060	129562456	84	26830											
DNHD1	144132	broad.mit.edu	37	chr11	6588430	6588430	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatgaagccacgtgagatTaatcacggggaggacctggc	12	6	14	9	2	1	2	1	2	0	1	1	5	1	4	2	4	2	1	2	4	2	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:6588430T>G	ENST00000254579.6	+	36	12255	c.11691T>G	c.(11689-11691)atT>atG	p.I3897M	DNHD1_ENST00000527990.2_Missense_Mutation_p.I3897M	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3897					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CACGTGAGATTAATCACGGGG	0.572													35	89					0	0	0	0	G	6588430	T	G	6588430	3	3	142	1	0	0	0	0	1	0	0	0	4704	1742	61	5	11834	5	DNHD1	11	6588430	Missense_Mutation	SNP	T	TCGA-CQ-6218-01A-11D-1912-08	1144370	6588430	128418086	85	26831											
TMEM41B	440026	broad.mit.edu	37	chr11	9321190	9321190	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaaagctgcagataagaaAatggacaccaatataaggag	21	5	9	6	0	0	2	0	0	0	2	0	4	0	4	1	2	2	2	1	2	8	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:9321190A>G	ENST00000528080.1	-	2	518	c.180T>C	c.(178-180)atT>atC	p.I60I	TMEM41B_ENST00000527813.1_Silent_p.I60I|TMEM41B_ENST00000533723.1_Silent_p.I60I	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	60						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		CAGATAAGAAAATGGACACCA	0.299													11	42					0	0	0	0	G	9321190	A	G	9321190	2	3	142	1	0	0	0	0	0	0	0	1	16259	10	1	5		5	TMEM41B	11	9321190	Silent	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	2732760	9321190	125685326	86	26832											
CD82	3732	broad.mit.edu	37	chr11	44640601	44640601	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgcctctccccacagctCctggggatggtcctgtccat	4	10	9	18	1	1	0	0	0	1	0	6	1	5	1	7	3	1	1	7	3	0	0			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:44640601C>A	ENST00000227155.4	+	10	977	c.729C>A	c.(727-729)ctC>ctA	p.L243L	CD82_ENST00000342935.3_Silent_p.L218L|CD82_ENST00000530931.1_3'UTR	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	243						integral to plasma membrane	protein binding			large_intestine(1)|ovary(1)	2						CCCCACAGCTCCTGGGGATGG	0.607													14	57					6.94344e-10	1.09594e-09	1	0	A	44640601	C	A	44640601	2	1	142	1	0	0	0	0	0	0	0	1	3069	842	30	2		2	CD82	11	44640601	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	35319411	44640601	90365915	87	26833											
TMEM138	51524	broad.mit.edu	37	chr11	61133693	61133693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgtctgggtcatggtaaGagtggcagtctgaattcttt	8	15	12	6	0	5	2	2	1	3	1	5	2	5	2	0	3	0	2	0	3	2	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:61133693G>C	ENST00000542946.1	+	3	504	c.305G>C	c.(304-306)aGa>aCa	p.R102T	TMEM138_ENST00000540194.1_Intron|TMEM138_ENST00000278826.6_Intron|TMEM138_ENST00000381787.2_Intron			Q9NPI0	TM138_HUMAN	transmembrane protein 138	0						integral to membrane				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						GTCATGGTAAGAGTGGCAGTC	0.438													28	91					0	0	0	0	C	61133693	G	C	61133693	3	2	142	1	0	0	0	0	1	0	0	0	16147	957	33	2		2	TMEM138	11	61133693	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	16493092	61133693	73872823	88	26834											
ATG2A	23130	broad.mit.edu	37	chr11	64679357	64679357	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccggcgggaggccatgtcGctgcgcacagaggaggccag	8	3	18	12	4	0	1	0	0	0	1	1	3	0	3	3	5	2	2	3	5	0	0			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:64679357G>A	ENST00000421419.2	-	9	1299	c.1185C>T	c.(1183-1185)agC>agT	p.S395S	ATG2A_ENST00000377264.3_Silent_p.S395S			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	395							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGGCCATGTCGCTGCGCACAG	0.637													5	24					0	0	0	0	A	64679357	G	A	64679357	2	1	142	1	0	0	0	0	0	0	0	1	1097	1078	38	1		1	ATG2A	11	64679357	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	3545664	64679357	70327159	89	26835											
PCNXL3	399909	broad.mit.edu	37	chr11	65397860	65397860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgaggtggaggctatcaccGagggtgtggaggaggacgag	9	5	21	6	3	1	0	1	0	0	0	1	7	1	4	1	7	0	1	1	7	1	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:65397860G>A	ENST00000355703.3	+	27	4794	c.4255G>A	c.(4255-4257)Gag>Aag	p.E1419K		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1419						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGCTATCACCGAGGGTGTGGA	0.637													24	67					0	0	0	0	A	65397860	G	A	65397860	3	1	142	1	0	0	0	0	1	0	0	0	11664	1059	37	1	4361	1	PCNXL3	11	65397860	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	718503	65397860	69608656	90	26836											
SUV420H1	51111	broad.mit.edu	37	chr11	67925548	67925548	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctttgctacatagagattGttatcgttgtcatggtcttt	8	18	9	6	1	2	1	1	0	1	1	3	2	2	1	0	1	3	4	0	1	3	7			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:67925548G>A	ENST00000304363.4	-	11	2618	c.2265C>T	c.(2263-2265)aaC>aaT	p.N755N		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	755					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CATAGAGATTGTTATCGTTGT	0.368													58	152					0	0	0	0	A	67925548	G	A	67925548	2	1	142	1	0	0	0	0	0	0	0	1	15504	1368	48	4		4	SUV420H1	11	67925548	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	2527688	67925548	67080968	91	26837											
FOLH1B	219595	broad.mit.edu	37	chr11	89407165	89407165	+	RNA	DEL	T	T	-																															cttcccaaaccatcaatgacTtttttttttttccccaatct																								rs112016970		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:89407165delT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CATCAATGACTTTTTTTTTTT	0.303													5	5	---	---	---	---					-	89407165	T	-	89407165	6	5	142	0	1	1	0	1	0	0	0	0	6025	1624	56	0		0	FOLH1B	11	89407165	RNA	DEL	T	TCGA-CQ-6218-01A-11D-1912-08	21481617	89407165	45599351	92	26838											
CWF19L2	143884	broad.mit.edu	37	chr11	107197637	107197637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaaatggaaggtacacctCaatagtttttacttttggtg	12	16	8	5	0	1	0	1	0	0	0	1	1	1	1	1	3	2	2	1	3	7	8			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:107197637C>T	ENST00000282251.5	-	18	2711	c.2684G>A	c.(2683-2685)tGa>tAa	p.*895*		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	0							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AGGTACACCTCAATAGTTTTT	0.408													11	42					0	0	0	0	T	107197637	C	T	107197637	2	4	142	1	0	0	0	0	0	0	0	1	4104	837	29	2		2	CWF19L2	11	107197637	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	17790472	107197637	27808879	93	26839											
GRIN2B	2904	broad.mit.edu	37	chr12	13715886	13715886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaagggccgagaccaccGgcttgttggtgacaagggcc	9	6	15	11	2	0	3	0	2	0	1	0	4	0	3	4	4	0	2	4	4	2	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:13715886G>A	ENST00000279593.3	-	13	4495	c.4286C>T	c.(4285-4287)cCg>cTg	p.P1429L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1429					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGAGACCACCGGCTTGTTGGT	0.607													16	54					0	0	0	0	A	13715886	G	A	13715886	3	1	142	1	0	0	0	0	1	0	0	0	6830	1116	39	1	172	1	GRIN2B	12	13715886	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08		13715886	120136009	94	26840											
PUS7L	83448	broad.mit.edu	37	chr12	44148421	44148421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatgcttcctcttcagataCcaaatgacaaagttctttat	14	14	4	9	0	3	2	1	1	2	1	4	2	4	2	2	0	2	2	2	0	5	6			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:44148421C>G	ENST00000416848.2	-	2	1116	c.628G>C	c.(628-630)Gta>Cta	p.V210L	PUS7L_ENST00000553166.1_Missense_Mutation_p.V210L|PUS7L_ENST00000551923.1_Missense_Mutation_p.V210L|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.V210L	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	210					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCTTCAGATACCAAATGACAA	0.299													4	24					0	0	0	0	G	44148421	C	G	44148421	3	3	142	1	0	0	0	0	1	0	0	0	12916	507	18	4	1509	4	PUS7L	12	44148421	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	30432535	44148421	89703474	95	26841											
KRT74	121391	broad.mit.edu	37	chr12	52965209	52965209	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactttggcctgaagctcCaccttgactgcgtaggctgc	6	11	10	14	1	0	2	0	2	0	0	2	2	2	2	4	2	3	3	4	2	2	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:52965209C>A	ENST00000549343.1	-	4	815	c.777G>T	c.(775-777)gtG>gtT	p.V259V	KRT74_ENST00000305620.2_Silent_p.V259V			Q7RTS7	K2C74_HUMAN	keratin 74	259	Coil 1B.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CCTGAAGCTCCACCTTGACTG	0.567													16	54					1.99824e-07	3.12024e-07	1	0	A	52965209	C	A	52965209	2	1	142	1	0	0	0	0	0	0	0	1	8539	581	21	4		4	KRT74	12	52965209	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	8816788	52965209	80886686	96	26842											
COPZ1	22818	broad.mit.edu	37	chr12	54718955	54718956	+	In_Frame_Ins	INS	-	-	GCG																															ctgcggggcaagatggaggcINSgctgattttggtaggagctg																										TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:54718955_54718956insGCG	ENST00000262061.2	+	1	45_46	c.8_9insGCG	c.(7-9)gct>gGCGct	p.2_3insG	COPZ1_ENST00000549116.1_In_Frame_Ins_p.2_3insG|COPZ1_ENST00000549043.1_5'UTR|COPZ1_ENST00000552218.1_In_Frame_Ins_p.2_3insG|COPZ1_ENST00000416254.2_5'UTR|COPZ1_ENST00000455864.2_In_Frame_Ins_p.2_3insG|COPZ1_ENST00000553231.1_In_Frame_Ins_p.2_3insG|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000552362.1_In_Frame_Ins_p.2_3insG|COPZ1_ENST00000551779.1_In_Frame_Ins_p.2_3insG	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	2					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						AAGATGGAGGCGCTGATTTTGG	0.619											OREG0021891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	4	---	---	---	---					GCG	54718956	-	GCG	54718955	7	5	142	1	0	1	1	0	0	0	0	0	3771	768	27	0	10	0	COPZ1	12	54718955	In_Frame_Ins	INS	-	TCGA-CQ-6218-01A-11D-1912-08	1753746	54718955	79132940	97	26843											
GRIP1	23426	broad.mit.edu	37	chr12	66742846	66742846	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccaaattaccaccgtggcTaggctgctggaaaaaagcac	13	7	9	12	1	0	0	0	0	0	0	1	1	1	1	3	3	3	4	3	3	6	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:66742846T>C	ENST00000359742.4	-	25	3580	c.3340A>G	c.(3340-3342)Agc>Ggc	p.S1114G	GRIP1_ENST00000286445.7_Missense_Mutation_p.S1099G|GRIP1_ENST00000398016.3_Missense_Mutation_p.S1062G			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	1114					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCACCGTGGCTAGGCTGCTGG	0.413													4	259					0	0	0	0	C	66742846	T	C	66742846	3	2	142	1	0	0	0	0	1	0	0	0	6837	1522	53	5	50	5	GRIP1	12	66742846	Missense_Mutation	SNP	T	TCGA-CQ-6218-01A-11D-1912-08	12023891	66742846	67109049	98	26844											
TRHDE	29953	broad.mit.edu	37	chr12	72955951	72955951	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatattcttgtaggattatTtaaccattcataagtatggt	12	19	6	4	0	2	0	1	0	1	0	2	1	2	1	1	2	1	2	1	2	7	11			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:72955951T>G	ENST00000261180.4	+	8	1756	c.1660T>G	c.(1660-1662)Tta>Gta	p.L554V	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	554					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GTAGGATTATTTAACCATTCA	0.274													4	14					0	0	0	0	G	72955951	T	G	72955951	3	3	142	1	0	0	0	0	1	0	0	0	16574	1838	64	5	1690	5	TRHDE	12	72955951	Missense_Mutation	SNP	T	TCGA-CQ-6218-01A-11D-1912-08	6213105	72955951	60895944	99	26845											
GPR133	283383	broad.mit.edu	37	chr12	131476850	131476850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaaccttccaaagtccCggagtgatactgagttacct	14	9	8	10	1	0	3	0	2	0	1	2	4	2	4	4	1	3	1	4	1	5	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:131476850C>T	ENST00000261654.5	+	8	1438	c.879C>T	c.(877-879)ccC>ccT	p.P293P	GPR133_ENST00000535015.1_Silent_p.P325P|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	293					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCAAAGTCCCGGAGTGATAC	0.458													45	129					0	0	0	0	T	131476850	C	T	131476850	2	4	142	1	0	0	0	0	0	0	0	1	6692	639	23	1		1	GPR133	12	131476850	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	58520899	131476850	2375045	100	26846											
MMP17	4326	broad.mit.edu	37	chr12	132323155	132323155	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctccatgctttccctgcAgacgaggccaccctggccct	6	8	10	17	1	0	1	0	0	0	1	2	3	2	1	5	2	3	3	5	2	0	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:132323155A>G	ENST00000360564.1	+	3	394		c.e3-1		MMP17_ENST00000535291.1_Splice_Site	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)						proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CTTTCCCTGCAGACGAGGCCA	0.667													4	13					0	0	0	0	G	132323155	A	G	132323155	5	3	142	1	0	0	0	0	0	0	1	0	9725	202	7	5	301	5	MMP17	12	132323155	Splice_Site	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	846305	132323155	1528740	101	26847											
ATP8A2	51761	broad.mit.edu	37	chr13	26104781	26104781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taacaattgcaggcatcaaaGagattgtagaagattttgta	16	12	9	4	0	1	3	1	0	0	3	1	4	1	3	0	1	2	4	0	1	6	7			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr13:26104781G>A	ENST00000381655.2	+	4	545	c.403G>A	c.(403-405)Gag>Aag	p.E135K	ATP8A2_ENST00000255283.8_Missense_Mutation_p.E95K	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	95					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGGCATCAAAGAGATTGTAGA	0.353													4	16					0	0	0	0	A	26104781	G	A	26104781	3	1	142	1	0	0	0	0	1	0	0	0	1197	943	33	2	417	2	ATP8A2	13	26104781	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08		26104781	89065097	102	26848											
CHD8	57680	broad.mit.edu	37	chr14	21881157	21881157	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattaaagggctcttcatccTagatgagttaggaaaccaaa	15	10	9	7	0	2	2	1	1	1	1	3	4	3	3	2	2	1	2	2	2	6	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr14:21881157T>C	ENST00000399982.2	-	9	2207		c.e9-2		CHD8_ENST00000430710.3_Splice_Site|CHD8_ENST00000557364.1_Splice_Site|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8						ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTCTTCATCCTAGATGAGTTA	0.423													6	20					0	0	0	0	C	21881157	T	C	21881157	5	2	142	1	0	0	0	0	0	0	1	0	3360	1536	53	5	5720	5	CHD8	14	21881157	Splice_Site	SNP	T	TCGA-CQ-6218-01A-11D-1912-08		21881157	85468383	103	26849											
DHRS7	51635	broad.mit.edu	37	chr14	60616104	60616104	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagttctcaatccttttcttCcccatcttgttggttatcca	7	18	4	12	0	3	0	1	0	3	0	7	0	6	0	4	1	0	3	4	1	3	7			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr14:60616104C>T	ENST00000216500.5	-	7	1394	c.939G>A	c.(937-939)ggG>ggA	p.G313G	DHRS7_ENST00000536410.2_Silent_p.G263G|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Silent_p.G313G|PCNXL4_ENST00000406949.1_Intron			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	313							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TCCTTTTCTTCCCCATCTTGT	0.383													15	56					0	0	0	0	T	60616104	C	T	60616104	2	4	142	1	0	0	0	0	0	0	0	1	4532	842	30	2		2	DHRS7	14	60616104	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	38734947	60616104	46733436	104	26850											
SYNE2	23224	broad.mit.edu	37	chr14	64518705	64518705	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgaacttcagatgaagAggatttggggagaaaaagaa	18	7	13	3	0	1	6	1	2	0	4	1	8	1	7	0	3	2	1	0	3	6	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr14:64518705A>G	ENST00000358025.3	+	48	8304	c.8074A>G	c.(8074-8076)Agg>Ggg	p.R2692G	SYNE2_ENST00000554584.1_Missense_Mutation_p.R2725G|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.R2692G	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2692					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAGATGAAGAGGATTTGGGG	0.418													15	87					0	0	0	0	G	64518705	A	G	64518705	3	3	142	1	0	0	0	0	1	0	0	0	15537	295	11	5	8260	5	SYNE2	14	64518705	Missense_Mutation	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	3902601	64518705	42830835	105	26851											
ATG2B	55102	broad.mit.edu	37	chr14	96756776	96756776	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagtctaaaaagatacctgTatggtttgaaccattctgtt	12	14	8	7	0	2	2	0	1	2	1	2	2	2	2	2	1	2	4	2	1	6	6			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr14:96756776T>C	ENST00000359933.4	-	40	6746	c.5853A>G	c.(5851-5853)atA>atG	p.I1951M	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1951										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAGATACCTGTATGGTTTGAA	0.423													23	65					0	0	0	0	C	96756776	T	C	96756776	3	2	142	1	0	0	0	0	1	0	0	0	1098	1628	57	5	395	5	ATG2B	14	96756776	Missense_Mutation	SNP	T	TCGA-CQ-6218-01A-11D-1912-08	32238071	96756776	10592764	106	26852											
SPESP1	246777	broad.mit.edu	37	chr15	69238803	69238803	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaattctagatctaaactCtatgaatatttagatattaa	16	17	4	4	0	3	3	0	1	3	2	3	3	3	3	0	0	1	1	0	0	10	10			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr15:69238803C>G	ENST00000310673.3	+	2	1084	c.930C>G	c.(928-930)ctC>ctG	p.L310L	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	310					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GATCTAAACTCTATGAATATT	0.318													15	42					0	0	0	0	G	69238803	C	G	69238803	2	3	142	1	0	0	0	0	0	0	0	1	15130	900	32	2		2	SPESP1	15	69238803	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08		69238803	33292589	107	26853											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84651117	84651117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagacaagggaagagaagCgtattaacctgaccattggt	14	9	11	7	1	1	3	1	1	0	2	1	5	1	4	2	2	2	1	2	2	5	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr15:84651117C>T	ENST00000286744.5	+	21	2961	c.2737C>T	c.(2737-2739)Cgt>Tgt	p.R913C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R913C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	913	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGAAGAGAAGCGTATTAACCT	0.473													18	84					0	0	0	0	T	84651117	C	T	84651117	3	4	142	1	0	0	0	0	1	0	0	0	276	768	27	1	2815	1	ADAMTSL3	15	84651117	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	15412314	84651117	17880275	108	26854											
NTRK3	4916	broad.mit.edu	37	chr15	88799155	88799155	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatggaagtgatattccttGagatgtccgtgatgttgata	11	14	11	5	1	0	4	0	4	0	1	2	6	2	5	2	1	0	1	2	1	3	5			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr15:88799155G>C	ENST00000394480.1	-	3	551	c.230C>G	c.(229-231)tCa>tGa	p.S77*	NTRK3_ENST00000558676.1_Nonsense_Mutation_p.S77*|NTRK3_ENST00000357724.2_Nonsense_Mutation_p.S77*|NTRK3_ENST00000540489.2_Nonsense_Mutation_p.S77*|NTRK3_ENST00000557856.1_Nonsense_Mutation_p.S77*|NTRK3_ENST00000360948.2_Nonsense_Mutation_p.S77*|NTRK3_ENST00000355254.2_Nonsense_Mutation_p.S77*|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000317501.3_Nonsense_Mutation_p.S77*	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	77					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GATATTCCTTGAGATGTCCGT	0.647			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			19	60					0	0	0	0	C	88799155	G	C	88799155	4	2	142	1	0	0	0	0	0	1	0	0	10779	1294	45	2	2623	2	NTRK3	15	88799155	Nonsense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	4148038	88799155	13732237	109	26855											
ZNF710	374655	broad.mit.edu	37	chr15	90611533	90611533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacttctgcggccgcggcttCgcctaccccagcgagctcaa	6	7	10	18	5	2	0	1	0	1	0	3	1	2	0	4	2	4	2	4	2	2	3	rs144375764		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr15:90611533C>T	ENST00000268154.4	+	2	1415	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCCGCGGCTTCGCCTACCCCA	0.642													13	46					0	0	0	0	T	90611533	C	T	90611533	2	4	142	1	0	0	0	0	0	0	0	1	18210	883	31	1		1	ZNF710	15	90611533	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	1812378	90611533	11919859	110	26856											
PDILT	204474	broad.mit.edu	37	chr16	20371931	20371931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttttgatgtggctttccaGgaagtcagagaagcccttca	10	12	11	8	0	2	2	2	1	0	1	3	4	3	3	2	2	1	2	2	2	2	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr16:20371931G>A	ENST00000302451.4	-	11	1713	c.1465C>T	c.(1465-1467)Ctg>Ttg	p.L489L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	489					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGGCTTTCCAGGAAGTCAGAG	0.473													50	190					0	0	0	0	A	20371931	G	A	20371931	2	1	142	1	0	0	0	0	0	0	0	1	11745	991	35	4		4	PDILT	16	20371931	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08		20371931	69982822	111	26857											
TNRC6A	27327	broad.mit.edu	37	chr16	24801451	24801451	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctcagatgcaggctccAtcaggtatgaatggcacttc	10	10	9	12	0	2	2	2	1	0	1	5	2	4	2	2	3	1	4	2	3	2	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr16:24801451A>T	ENST00000395799.3	+	6	1617	c.1488A>T	c.(1486-1488)ccA>ccT	p.P496P	TNRC6A_ENST00000315183.7_Silent_p.P496P	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	496	Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGCAGGCTCCATCAGGTATGA	0.473													13	91					0	0	0	0	T	24801451	A	T	24801451	2	4	142	1	0	0	0	0	0	0	0	1	16434	204	8	5		5	TNRC6A	16	24801451	Silent	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	4429520	24801451	65553302	112	26858											
ATP2A1	487	broad.mit.edu	37	chr16	28912067	28912067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcgaattggcatctttgggGagaacgaggaggtggccgat	9	8	18	6	3	1	1	0	0	1	1	1	6	1	2	1	7	1	1	1	7	2	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr16:28912067G>A	ENST00000395503.4	+	15	2114	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	ATP2A1_ENST00000357084.3_Missense_Mutation_p.E644K|ATP2A1_ENST00000536376.1_Missense_Mutation_p.E519K	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	644					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CATCTTTGGGGAGAACGAGGA	0.642													15	64					0	0	0	0	A	28912067	G	A	28912067	3	1	142	1	0	0	0	0	1	0	0	0	1140	1175	41	2	1988	2	ATP2A1	16	28912067	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	4110616	28912067	61442686	113	26859											
WSCD1	23302	broad.mit.edu	37	chr17	5993711	5993711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggctgccagcggtgagcGtggggctggaagagtgtaac	8	6	18	9	3	0	2	0	1	0	1	0	3	0	3	2	5	4	3	2	5	2	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:5993711G>A	ENST00000574946.1	+	4	1003	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	WSCD1_ENST00000573634.1_Missense_Mutation_p.V89M|WSCD1_ENST00000574232.1_Missense_Mutation_p.V205M|WSCD1_ENST00000539421.1_Missense_Mutation_p.V205M|WSCD1_ENST00000317744.5_Missense_Mutation_p.V205M			Q658N2	WSCD1_HUMAN	WSC domain containing 1	205	WSC 1.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						AGCGGTGAGCGTGGGGCTGGA	0.662													17	59					0	0	0	0	A	5993711	G	A	5993711	3	1	142	1	0	0	0	0	1	0	0	0	17502	1145	40	1	623	1	WSCD1	17	5993711	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08		5993711	75201499	114	26860											
TP53	7157	broad.mit.edu	37	chr17	7578196	7578196	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggcggctcatagggcAccaccacactatgtcgaaaa	12	6	9	14	2	2	0	2	0	0	0	3	1	2	0	3	3	0	2	3	3	4	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:7578196A>C	ENST00000420246.2	-	6	785	c.653T>G	c.(652-654)gTg>gGg	p.V218G	TP53_ENST00000455263.2_Missense_Mutation_p.V218G|TP53_ENST00000413465.2_Missense_Mutation_p.V218G|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V218G|TP53_ENST00000269305.4_Missense_Mutation_p.V218G|TP53_ENST00000445888.2_Missense_Mutation_p.V218G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	218	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.V218E(8)|p.0?(8)|p.V218G(5)|p.V218del(5)|p.V218A(3)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCATAGGGCACCACCACACT	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	26					0	0	0	0	C	7578196	A	C	7578196	3	2	142	1	0	0	0	0	1	0	0	0	16476	159	6	5	641	5	TP53	17	7578196	Missense_Mutation	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	1584485	7578196	73617014	115	26861											
TP53	7157	broad.mit.edu	37	chr17	7578267	7578267	+	Frame_Shift_Del	DEL	A	A	-																															aaatttccttccactcggatAagatgctgaggaggggccag																										TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:7578267delA	ENST00000420246.2	-	6	714	c.582delT	c.(580-582)ctfs	p.L194fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.L194fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L194fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L194fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L194fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.L194fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(6)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*52(3)|p.P191_E198>Q(3)|p.I63fs*>28(1)|p.I195fs*14(1)|p.L194fs*52(1)|p.I195fs*50(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.I102fs*52(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCACTCGGATAAGATGCTGAG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	33	---	---	---	---					-	7578267	A	-	7578267	7	5	142	1	0	1	0	1	0	0	0	0	16476	349	13	0	712	0	TP53	17	7578267	Frame_Shift_Del	DEL	A	TCGA-CQ-6218-01A-11D-1912-08	71	7578267	73616943	116	26862											
MYH13	8735	broad.mit.edu	37	chr17	10248895	10248895	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccacaggaacatcttctcGtagacggctttggccagagc	10	9	10	12	2	2	2	0	0	2	2	4	3	3	3	2	3	2	2	2	3	2	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:10248895G>A	ENST00000418404.3	-	13	1465	c.1302C>T	c.(1300-1302)taC>taT	p.Y434Y	MYH13_ENST00000570743.1_Silent_p.Y434Y|MYH13_ENST00000252172.4_Silent_p.Y434Y			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	434	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACATCTTCTCGTAGACGGCTT	0.517													36	125					0	0	0	0	A	10248895	G	A	10248895	2	1	142	1	0	0	0	0	0	0	0	1	10102	1140	40	1		1	MYH13	17	10248895	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	2670628	10248895	70946315	117	26863											
ABHD15	116236	broad.mit.edu	37	chr17	27889938	27889938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatacacagcacaggcaCggctgcctcatcgacatccc	11	5	9	16	2	1	1	1	0	0	1	3	2	2	1	2	2	3	4	2	2	1	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:27889938C>A	ENST00000307201.4	-	2	1218	c.1048G>T	c.(1048-1050)Gtg>Ttg	p.V350L	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	350						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						AGCACAGGCACGGCTGCCTCA	0.582													7	47					0.000673444	0.00101889	1	0	A	27889938	C	A	27889938	3	1	142	1	0	0	0	0	1	0	0	0	81	536	19	3	362	3	ABHD15	17	27889938	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	17641043	27889938	53305272	118	26864											
TMEM132E	124842	broad.mit.edu	37	chr17	32953441	32953441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacatccccgagcgcctgacGgtgaactggaaggtgcgggc	8	5	16	12	4	0	2	0	2	0	0	1	5	1	3	3	4	3	0	3	4	2	0			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:32953441G>A	ENST00000321639.5	+	2	691	c.363G>A	c.(361-363)acG>acA	p.T121T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	121						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AGCGCCTGACGGTGAACTGGA	0.697													6	25					0	0	0	0	A	32953441	G	A	32953441	2	1	142	1	0	0	0	0	0	0	0	1	16142	1103	39	1		1	TMEM132E	17	32953441	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	5063503	32953441	48241769	119	26865											
CDK3	1018	broad.mit.edu	37	chr17	74001438	74001438	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagactgccctggcccacccGtacttctcatcccctgagcc	7	8	7	19	1	1	2	1	1	1	1	3	2	2	2	6	1	3	1	6	1	2	2	rs150329289		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:74001438G>A	ENST00000425876.2	+	7	940	c.852G>A	c.(850-852)ccG>ccA	p.P284P	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.P284P			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	284	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						TGGCCCACCCGTACTTCTCAT	0.582													12	53					0	0	0	0	A	74001438	G	A	74001438	2	1	142	1	0	0	0	0	0	0	0	1	3169	1132	40	1		1	CDK3	17	74001438	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	41047997	74001438	7193772	120	26866											
POTEC	388468	broad.mit.edu	37	chr18	14530502	14530502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggattgctgttttcagaaGagatttttagcatctgtttt	8	19	9	5	0	2	2	1	0	1	2	2	4	2	3	0	1	2	4	0	1	2	8			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr18:14530502G>C	ENST00000358970.5	-	6	1105	c.1106C>G	c.(1105-1107)tCt>tGt	p.S369C	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	369										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GTTTTCAGAAGAGATTTTTAG	0.303													3	27					0	0	0	0	C	14530502	G	C	14530502	3	2	142	1	0	0	0	0	1	0	0	0	12334	942	33	2	546	2	POTEC	18	14530502	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08		14530502	63546746	121	26867											
ROCK1	6093	broad.mit.edu	37	chr18	18622625	18622625	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttaatacttcaggggaaaTataatcaggtgttccaaccg	13	13	8	7	1	2	0	2	0	0	0	3	1	3	1	2	3	2	1	2	3	6	7			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr18:18622625T>C	ENST00000399799.1	-	7	1661	c.721A>G	c.(721-723)Att>Gtt	p.I241V		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	241	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCAGGGGAAATATAATCAGGT	0.393													10	32					0	0	0	0	C	18622625	T	C	18622625	3	2	142	1	0	0	0	0	1	0	0	0	13602	1406	49	5	3451	5	ROCK1	18	18622625	Missense_Mutation	SNP	T	TCGA-CQ-6218-01A-11D-1912-08	4092123	18622625	59454623	122	26868											
MIB1	57534	broad.mit.edu	37	chr18	19429197	19429197	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccttctatgattagtaatGattctgaaaccttagaagag	13	14	8	6	0	2	5	0	3	2	2	3	5	3	5	2	0	1	1	2	0	6	6			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr18:19429197G>C	ENST00000261537.6	+	17	2698	c.2434G>C	c.(2434-2436)Gat>Cat	p.D812H	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	812					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	p.D812Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GATTAGTAATGATTCTGAAAC	0.348													47	198					0	0	0	0	C	19429197	G	C	19429197	3	2	142	1	0	0	0	0	1	0	0	0	9635	1290	45	2	2500	2	MIB1	18	19429197	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	806572	19429197	58648051	123	26869											
CREB3L3	84699	broad.mit.edu	37	chr19	4164536	4164536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcctcctacctcctgcgaCctggggctgggcactgtcag	4	8	14	15	1	1	0	1	0	0	0	3	1	3	0	5	4	2	2	5	4	1	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:4164536C>T	ENST00000078445.2	+	5	760	c.613C>T	c.(613-615)Cct>Tct	p.P205S	CREB3L3_ENST00000595923.1_Missense_Mutation_p.P204S|CREB3L3_ENST00000252587.3_Missense_Mutation_p.P145S|CREB3L3_ENST00000602147.1_Missense_Mutation_p.P205S|CREB3L3_ENST00000602257.1_Missense_Mutation_p.P203S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	205					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCTGCGACCTGGGGCTGG	0.582													19	94					0	0	0	0	T	4164536	C	T	4164536	3	4	142	1	0	0	0	0	1	0	0	0	3888	507	18	4	631	4	CREB3L3	19	4164536	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08		4164536	54964447	124	26870											
KHSRP	8570	broad.mit.edu	37	chr19	6422368	6422368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctccatcttccaactgtCtcttttggcccccaaaacca	9	12	3	17	0	2	0	0	0	2	0	5	0	4	0	6	1	3	0	6	1	4	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:6422368C>T	ENST00000398148.3	-	2	421	c.329G>A	c.(328-330)aGa>aAa	p.R110K		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	110	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TTCCAACTGTCTCTTTTGGCC	0.493													19	96					0	0	0	0	T	6422368	C	T	6422368	3	4	142	1	0	0	0	0	1	0	0	0	8202	913	32	2	1882	2	KHSRP	19	6422368	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	2257832	6422368	52706615	125	26871											
MYO9B	4650	broad.mit.edu	37	chr19	17270248	17270248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttctgaccaaaagaaaaaCggtgaccgtcaacgacaagc	16	5	10	10	3	2	3	1	2	1	1	2	4	2	3	2	2	3	1	2	2	6	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:17270248C>T	ENST00000595618.1	+	8	1525	c.1373C>T	c.(1372-1374)aCg>aTg	p.T458M	MYO9B_ENST00000594824.1_Missense_Mutation_p.T458M|MYO9B_ENST00000397274.2_Missense_Mutation_p.T458M|CTD-3032J10.2_ENST00000597216.1_RNA|CTD-3032J10.2_ENST00000599360.1_RNA	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	458	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.T458M(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AAAAGAAAAACGGTGACCGTC	0.522													6	13					0	0	0	0	T	17270248	C	T	17270248	3	4	142	1	0	0	0	0	1	0	0	0	10155	536	19	1	1399	1	MYO9B	19	17270248	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	10847880	17270248	41858735	126	26872											
ITPKC	80271	broad.mit.edu	37	chr19	41223543	41223543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcccctggacacagccagGggttcatgggccctggacag	8	5	14	14	0	1	0	1	0	0	0	1	2	1	2	4	5	2	1	4	5	0	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:41223543G>T	ENST00000263370.2	+	1	536	c.503G>T	c.(502-504)gGg>gTg	p.G168V		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	168						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACACAGCCAGGGGTTCATGGG	0.607													19	40					1.15919e-05	1.78149e-05	1	0	T	41223543	G	T	41223543	3	4	142	1	0	0	0	0	1	0	0	0	7972	1232	43	4	505	4	ITPKC	19	41223543	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	23953295	41223543	17905440	127	26873											
LMTK3	114783	broad.mit.edu	37	chr19	49013282	49013282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggcgtggggcagtacctGagtgtgaaggctgcggggca	7	7	19	8	2	0	2	0	2	0	0	0	2	0	2	1	6	2	4	1	6	2	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:49013282G>A	ENST00000600059.1	-	3	586	c.359C>T	c.(358-360)tCa>tTa	p.S120L	LMTK3_ENST00000270238.3_Missense_Mutation_p.S149L					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGCAGTACCTGAGTGTGAAGG	0.622													10	33					0	0	0	0	A	49013282	G	A	49013282	3	1	142	1	0	0	0	0	1	0	0	0	8915	1294	45	2	4075	2	LMTK3	19	49013282	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	7789739	49013282	10115701	128	26874											
ZNF432	9668	broad.mit.edu	37	chr19	52537191	52537191	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtaaagcaagctctgtttCcttggcaaagcctcttccac	10	12	7	12	0	2	0	0	0	2	0	4	0	4	0	3	1	3	5	3	1	4	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:52537191C>A	ENST00000594154.1	-	5	1953	c.1741G>T	c.(1741-1743)Gaa>Taa	p.E581*	ZNF432_ENST00000221315.5_Nonsense_Mutation_p.E581*			O94892	ZN432_HUMAN	zinc finger protein 432	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGCTCTGTTTCCTTGGCAAAG	0.378													28	63					9.39395e-14	1.52391e-13	1	0	A	52537191	C	A	52537191	4	1	142	1	0	0	0	0	0	1	0	0	18001	864	30	2	221	2	ZNF432	19	52537191	Nonsense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	3523909	52537191	6591792	129	26875											
KIR2DL1	3802	broad.mit.edu	37	chr19	55281317	55281317	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaccatgtcgctcttggtCgtcagcatggcgtgtgttgg	5	12	14	10	3	2	0	1	0	1	0	4	0	2	0	1	3	2	4	1	3	0	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:55281317C>T	ENST00000336077.6	+	1	55	c.15C>T	c.(13-15)gtC>gtT	p.V5V	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL1_ENST00000291633.7_Silent_p.V5V	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	5			V -> F (in dbSNP:rs2304224).		immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CGCTCTTGGTCGTCAGCATGG	0.602											OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	32	37					0	0	0	0	T	55281317	C	T	55281317	2	4	142	1	0	0	0	0	0	0	0	1	8368	871	31	1		1	KIR2DL1	19	55281317	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	2744126	55281317	3847666	130	26876											
PEG3	5178	broad.mit.edu	37	chr19	57326231	57326231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccatcatcacaccccttCatggaatacaactggtcttg	13	10	5	13	0	4	0	3	0	1	0	4	1	4	1	3	2	3	0	3	2	4	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:57326231C>A	ENST00000326441.9	-	10	3942	c.3579G>T	c.(3577-3579)atG>atT	p.M1193I	PEG3_ENST00000423103.2_Missense_Mutation_p.M1193I|PEG3_ENST00000598410.1_Missense_Mutation_p.M1069I|PEG3_ENST00000593695.1_Missense_Mutation_p.M1067I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1193					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACACCCCTTCATGGAATACA	0.473													21	93					1.50039e-11	2.40722e-11	1	0	A	57326231	C	A	57326231	3	1	142	1	0	0	0	0	1	0	0	0	11791	826	29	2	1191	2	PEG3	19	57326231	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	2044914	57326231	1802752	131	26877											
USP29	57663	broad.mit.edu	37	chr19	57640945	57640945	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatgaatgcagttttacAatcgctatttgcaattccat	12	16	5	8	1	0	1	0	1	0	0	2	1	1	1	1	0	4	4	1	0	6	6			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:57640945A>C	ENST00000254181.4	+	4	1356	c.902A>C	c.(901-903)cAa>cCa	p.Q301P	USP29_ENST00000598197.1_Missense_Mutation_p.Q301P	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	301					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCAGTTTTACAATCGCTATTT	0.448													7	58					0	0	0	0	C	57640945	A	C	57640945	3	2	142	1	0	0	0	0	1	0	0	0	17155	130	5	5	904	5	USP29	19	57640945	Missense_Mutation	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	314714	57640945	1488038	132	26878											
ZNF530	348327	broad.mit.edu	37	chr19	58117555	58117555	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatccaggaaatcttttaGagagaaatctgtattcattc	14	14	7	6	0	3	3	1	1	2	2	5	5	4	4	1	1	0	1	1	1	5	5			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:58117555G>C	ENST00000332854.6	+	3	882	c.662G>C	c.(661-663)aGa>aCa	p.R221T	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAATCTTTTAGAGAGAAATCT	0.438													3	69					0	0	0	0	C	58117555	G	C	58117555	3	2	142	1	0	0	0	0	1	0	0	0	18066	942	33	2	672	2	ZNF530	19	58117555	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	476610	58117555	1011428	133	26879											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565265	58565265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccggagcaagggcccccGggagtccgtcccacccaggg	6	2	14	19	3	0	0	0	0	0	0	2	2	2	2	7	4	1	1	7	4	1	0			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:58565265G>A	ENST00000282326.1	+	6	1320	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	358					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGGGCCCCCGGGAGTCCGTC	0.662													10	37					0	0	0	0	A	58565265	G	A	58565265	3	1	142	1	0	0	0	0	1	0	0	0	18319	1116	39	1	1087	1	ZSCAN1	19	58565265	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	447710	58565265	563718	134	26880											
CRLS1	54675	broad.mit.edu	37	chr20	5990553	5990553	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctttagctggactaacaGatttggtaagttgtaaatgc	11	15	10	5	0	0	1	0	0	0	1	0	2	0	2	0	2	4	5	0	2	5	8	rs59962100		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr20:5990553G>C	ENST00000378863.4	+	2	596	c.439G>C	c.(439-441)Gat>Cat	p.D147H	CRLS1_ENST00000452938.1_Missense_Mutation_p.D147H|CRLS1_ENST00000378868.3_Missense_Mutation_p.D48H	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	147					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups			lung(3)|ovary(1)	4						TGGACTAACAGATTTGGTAAG	0.413													5	51					0	0	0	0	C	5990553	G	C	5990553	3	2	142	1	0	0	0	0	1	0	0	0	3919	942	33	2	458	2	CRLS1	20	5990553	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08		5990553	57034967	135	26881											
DNTTIP1	116092	broad.mit.edu	37	chr20	44422617	44422617	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtcctgcagcccagcatCaacgaggagatccagactgt	10	7	11	13	1	1	2	1	0	0	2	3	4	3	2	3	1	4	3	3	1	1	0			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr20:44422617C>T	ENST00000372622.3	+	3	302	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	78						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGCCCAGCATCAACGAGGAGA	0.522													19	65					0	0	0	0	T	44422617	C	T	44422617	2	4	142	1	0	0	0	0	0	0	0	1	4717	816	29	2		2	DNTTIP1	20	44422617	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	38432064	44422617	18602903	136	26882											
NFATC2	4773	broad.mit.edu	37	chr20	50007976	50007976	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgaaaactccttcctgAtaatttcattaactacaaaa	15	13	3	10	0	1	2	1	2	0	0	4	2	4	2	3	0	3	0	3	0	7	5			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr20:50007976A>G	ENST00000396009.3	-	10	2954	c.2735T>C	c.(2734-2736)aTc>aCc	p.I912T	NFATC2_ENST00000371564.3_3'UTR|NFATC2_ENST00000414705.1_3'UTR	NM_001258292.1|NM_001258295.1|NM_001258297.1|NM_173091.3	NP_001245221.1|NP_001245224.1|NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	912					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTCCTTCCTGATAATTTCATT	0.483													25	63					0	0	0	0	G	50007976	A	G	50007976	3	3	142	1	0	0	0	0	1	0	0	0	10432	333	12	5	46	5	NFATC2	20	50007976	Missense_Mutation	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	5585359	50007976	13017544	137	26883											
SRMS	6725	broad.mit.edu	37	chr20	62178520	62178520	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgatgggcacgagcccGgcgctgggctggcccgaaag	6	5	19	11	4	0	1	0	1	0	0	0	3	0	1	2	5	1	3	2	5	1	0			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr20:62178520G>A	ENST00000217188.1	-	1	337	c.297C>T	c.(295-297)gcC>gcT	p.A99A		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	99	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCACGAGCCCGGCGCTGGGCT	0.697													25	48					0	0	0	0	A	62178520	G	A	62178520	2	1	142	1	0	0	0	0	0	0	0	1	15242	1103	39	1		1	SRMS	20	62178520	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	12170544	62178520	847000	138	26884											
GRIK1	2897	broad.mit.edu	37	chr21	31311810	31311810	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggcgaggagtgtgccGtgctccatcttcctagcttc	4	11	14	12	2	1	0	0	0	1	0	4	2	3	1	3	3	3	3	3	3	1	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr21:31311810G>A	ENST00000399914.1	-	1	530	c.9C>T	c.(7-9)caC>caT	p.H3H	GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Silent_p.H3H|GRIK1_ENST00000327783.4_Silent_p.H3H|GRIK1_ENST00000389124.2_Silent_p.H3H|GRIK1_ENST00000399907.1_Silent_p.H3H|GRIK1_ENST00000535441.1_Silent_p.H3H|GRIK1_ENST00000399913.1_Silent_p.H3H|GRIK1_ENST00000309434.7_Silent_p.H3H|GRIK1_ENST00000389125.3_Silent_p.H3H			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	3					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGAGTGTGCCGTGCTCCATCT	0.622													4	10					0	0	0	0	A	31311810	G	A	31311810	2	1	142	1	0	0	0	0	0	0	0	1	6823	1136	40	1		1	GRIK1	21	31311810	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08		31311810	16818085	139	26885											
COL6A1	1291	broad.mit.edu	37	chr21	47404294	47404294	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggcggccgcgacgcactCaaaagcagcgtggacgcggt	8	4	15	14	7	1	0	1	0	0	0	1	2	1	1	2	4	2	2	2	4	2	0			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr21:47404294C>G	ENST00000361866.3	+	3	453	c.339C>G	c.(337-339)ctC>ctG	p.L113L		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	113	N-terminal globular domain.|VWFA 1.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCGACGCACTCAAAAGCAGCG	0.632													7	20					0	0	0	0	G	47404294	C	G	47404294	2	3	142	1	0	0	0	0	0	0	0	1	3729	813	29	2		2	COL6A1	21	47404294	Silent	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	16092484	47404294	725601	140	26886											
MED15	51586	broad.mit.edu	37	chr22	20940876	20940876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccaaccccttcctccagtCggtgcaccgctgcatgacct	6	8	8	19	3	0	1	0	1	0	0	3	1	2	1	7	1	3	3	7	1	1	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr22:20940876C>T	ENST00000263205.7	+	18	2321	c.2252C>T	c.(2251-2253)tCg>tTg	p.S751L	MED15_ENST00000541476.1_Missense_Mutation_p.S685L|MED15_ENST00000425759.2_Missense_Mutation_p.S600L|MED15_ENST00000292733.7_Missense_Mutation_p.S711L|MED15_ENST00000382974.2_Missense_Mutation_p.S640L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.S685L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	751					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TTCCTCCAGTCGGTGCACCGC	0.677													27	65					0	0	0	0	T	20940876	C	T	20940876	3	4	142	1	0	0	0	0	1	0	0	0	9502	893	31	1	2322	1	MED15	22	20940876	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08		20940876	30363690	141	26887											
CRYBB3	1417	broad.mit.edu	37	chr22	25601219	25601219	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaagctgcatctgtttgaGaacccagctttcagtggccg	9	10	10	12	1	2	1	1	1	1	1	2	2	2	1	2	1	4	4	2	1	2	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr22:25601219G>A	ENST00000215855.2	+	5	440	c.360G>A	c.(358-360)gaG>gaA	p.E120E	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	120	Beta/gamma crystallin 'Greek key' 3.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						ATCTGTTTGAGAACCCAGCTT	0.567													14	49					0	0	0	0	A	25601219	G	A	25601219	2	1	142	1	0	0	0	0	0	0	0	1	3942	933	33	2		2	CRYBB3	22	25601219	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	4660343	25601219	25703347	142	26888											
PLA2G6	8398	broad.mit.edu	37	chr22	38508233	38508233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctcatagatgtagacctCggtctcccagagggcgttga	8	10	13	10	2	2	4	1	1	1	3	4	4	2	4	2	2	1	3	2	2	2	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr22:38508233C>T	ENST00000332509.3	-	17	2539	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K	PLA2G6_ENST00000335539.3_Missense_Mutation_p.E732K|PLA2G6_ENST00000402064.1_Missense_Mutation_p.E732K	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	786					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	ATGTAGACCTCGGTCTCCCAG	0.622													4	14					0	0	0	0	T	38508233	C	T	38508233	3	4	142	1	0	0	0	0	1	0	0	0	12080	893	31	1	68	1	PLA2G6	22	38508233	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	12907014	38508233	12796333	143	26889											
PLXNB2	23654	broad.mit.edu	37	chr22	50716549	50716549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacccatgggggcccaccttGactgagagcagccgcgtcag	8	5	13	15	2	1	2	1	2	0	1	1	3	1	2	4	2	2	1	4	2	0	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr22:50716549G>A	ENST00000449103.1	-	31	5024	c.4884C>T	c.(4882-4884)gtC>gtT	p.V1628V	PLXNB2_ENST00000359337.4_Silent_p.V1628V			O15031	PLXB2_HUMAN	plexin B2	1628					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCCACCTTGACTGAGAGCA	0.687													7	25					0	0	0	0	A	50716549	G	A	50716549	2	1	142	1	0	0	0	0	0	0	0	1	12196	1277	45	2		2	PLXNB2	22	50716549	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	12208316	50716549	588017	144	26890											
CPT1B	1375	broad.mit.edu	37	chr22	51010715	51010715	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccattcttgaaggaaatgaGagtgaaggatttgtcaaacc	14	10	11	6	0	2	3	1	3	1	1	2	6	2	5	2	2	1	0	2	2	4	3			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr22:51010715G>C	ENST00000360719.2	-	12	1512	c.1375C>G	c.(1375-1377)Ctc>Gtc	p.L459V	CPT1B_ENST00000434492.2_Missense_Mutation_p.L256V|CPT1B_ENST00000405237.3_Missense_Mutation_p.L459V|CPT1B_ENST00000395650.2_Missense_Mutation_p.L459V|CPT1B_ENST00000312108.7_Missense_Mutation_p.L459V|CPT1B_ENST00000457250.1_Missense_Mutation_p.L425V|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.L378V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	459					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AAGGAAATGAGAGTGAAGGAT	0.512													8	39					0	0	0	0	C	51010715	G	C	51010715	3	2	142	1	0	0	0	0	1	0	0	0	3862	942	33	2	975	2	CPT1B	22	51010715	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	294166	51010715	293851	145	26891											
DDX53	168400	broad.mit.edu	37	chrX	23019111	23019111	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagagttggctcttcacgtgGaagctgaatgttcaaagtat	11	12	12	6	1	3	2	2	1	1	1	3	4	3	3	0	2	1	5	0	2	4	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:23019111G>T	ENST00000327968.5	+	1	1025	c.937G>T	c.(937-939)Gaa>Taa	p.E313*	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	313	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TCTTCACGTGGAAGCTGAATG	0.398													24	49					5.24475e-26	8.70152e-26	1	0	T	23019111	G	T	23019111	4	4	142	1	0	0	0	0	0	1	0	0	4403	1175	41	2	939	2	DDX53	23	23019111	Nonsense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08		23019111	132251449	146	26892											
CXorf22	170063	broad.mit.edu	37	chrX	35989886	35989886	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagagtctgtgagaagAaaggcacgtgcaatgtttta	14	9	14	4	1	1	3	0	1	1	3	1	6	1	4	0	2	1	3	0	2	5	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:35989886A>C	ENST00000297866.5	+	12	2220	c.2154A>C	c.(2152-2154)agA>agC	p.R718S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	718										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTGTGAGAAGAAAGGCACGTG	0.363													16	20					0	0	0	0	C	35989886	A	C	35989886	3	2	142	1	0	0	0	0	1	0	0	0	4134	243	9	5	2200	5	CXorf22	23	35989886	Missense_Mutation	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	12970775	35989886	119280674	147	26893											
RIBC1	158787	broad.mit.edu	37	chrX	53455530	53455530	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtacaacttggaaaggCaacagcaggagcaacagcaa	17	4	11	9	0	1	0	1	0	0	0	1	2	1	2	0	4	7	5	0	4	6	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:53455530C>T	ENST00000457095.1	+	5	703	c.499C>T	c.(499-501)Caa>Taa	p.Q167*	RIBC1_ENST00000490702.1_3'UTR|RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Nonsense_Mutation_p.Q167*	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	167										lung(2)	2						CTTGGAAAGGCAACAGCAGGA	0.562													15	9					0	0	0	0	T	53455530	C	T	53455530	4	4	142	1	0	0	0	0	0	1	0	0	13435	711	25	4	509	4	RIBC1	23	53455530	Nonsense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	17465644	53455530	101815030	148	26894											
OGT	8473	broad.mit.edu	37	chrX	70787355	70787355	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttccctattttagattctGaagcgtgttcccaatagtgt	8	18	7	8	1	1	2	0	1	1	1	3	2	3	2	2	0	1	1	2	0	5	8			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:70787355G>A	ENST00000373719.3	+	20	2812	c.2595G>A	c.(2593-2595)ctG>ctA	p.L865L	OGT_ENST00000373701.3_Silent_p.L855L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	865					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTTAGATTCTGAAGCGTGTTC	0.398													18	40					0	0	0	0	A	70787355	G	A	70787355	2	1	142	1	0	0	0	0	0	0	0	1	10918	1277	45	2		2	OGT	23	70787355	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	17331825	70787355	84483205	149	26895											
NAP1L2	4674	broad.mit.edu	37	chrX	72433920	72433920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttcagcaaactttctttCaatgtcatgaaattccctca	12	15	3	11	0	5	1	4	1	1	0	6	1	6	1	1	0	2	1	1	0	3	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:72433920C>T	ENST00000373517.3	-	1	764	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	137					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					AACTTTCTTTCAATGTCATGA	0.373													29	99					0	0	0	0	T	72433920	C	T	72433920	3	4	142	1	0	0	0	0	1	0	0	0	10227	835	29	2	977	2	NAP1L2	23	72433920	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	1646565	72433920	82836640	150	26896											
KIAA2022	340533	broad.mit.edu	37	chrX	73960449	73960449	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacaagatataggaaggctCctgaaattcccgttggtcat	12	10	11	8	1	1	2	1	1	0	1	3	4	3	4	2	4	0	2	2	4	5	4			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:73960449C>A	ENST00000373468.1	-	3	4594	c.3943G>T	c.(3943-3945)Gag>Tag	p.E1315*	KIAA2022_ENST00000055682.5_Nonsense_Mutation_p.E1315*			Q5QGS0	K2022_HUMAN	KIAA2022	1315					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAGGAAGGCTCCTGAAATTCC	0.532													37	110					6.99958e-10	1.09886e-09	1	0	A	73960449	C	A	73960449	4	1	142	1	0	0	0	0	0	1	0	0	8320	864	30	2	615	2	KIAA2022	23	73960449	Nonsense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	1526529	73960449	81310111	151	26897											
TBX22	50945	broad.mit.edu	37	chrX	79281179	79281179	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcctagattctatgttcAcccggactcaccctgctcgg	7	12	7	15	2	3	1	2	0	1	1	5	2	4	2	3	2	1	2	3	2	2	5			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:79281179A>T	ENST00000442340.1	+	5	666	c.176A>T	c.(175-177)cAc>cTc	p.H59L	TBX22_ENST00000373291.1_Missense_Mutation_p.H59L|TBX22_ENST00000373294.5_Missense_Mutation_p.H179L|TBX22_ENST00000373296.3_Missense_Mutation_p.H179L	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	179					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCTATGTTCACCCGGACTCA	0.488													25	71					0	0	0	0	T	79281179	A	T	79281179	3	4	142	1	0	0	0	0	1	0	0	0	15752	159	6	5	550	5	TBX22	23	79281179	Missense_Mutation	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	5320730	79281179	75989381	152	26898											
BRWD3	254065	broad.mit.edu	37	chrX	79946660	79946660	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatccactggaacagcaaaaGggctggcaaaatctacaaaa	18	5	9	9	0	1	0	0	0	1	0	2	2	2	1	1	3	3	3	1	3	8	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:79946660G>C	ENST00000373275.4	-	31	3710	c.3494C>G	c.(3493-3495)cCt>cGt	p.P1165R	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1165	Bromo 1.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AACAGCAAAAGGGCTGGCAAA	0.373													14	30					0	0	0	0	C	79946660	G	C	79946660	3	2	142	1	0	0	0	0	1	0	0	0	1534	1000	35	4	1958	4	BRWD3	23	79946660	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	665481	79946660	75323900	153	26899											
SLC25A43	203427	broad.mit.edu	37	chrX	118586008	118586008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccacacagtggaggagtaGatgtccatttctcaggagca	11	9	11	10	0	1	1	1	0	1	1	4	4	3	4	2	3	1	2	2	3	1	2			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:118586008G>C	ENST00000217909.7	+	4	1071	c.727G>C	c.(727-729)Gat>Cat	p.D243H	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Missense_Mutation_p.R185T	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	243					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						TGGAGGAGTAGATGTCCATTT	0.512													32	112					0	0	0	0	C	118586008	G	C	118586008	3	2	142	1	0	0	0	0	1	0	0	0	14596	942	33	2	741	2	SLC25A43	23	118586008	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	38639348	118586008	36684552	154	26900											
F9	2158	broad.mit.edu	37	chrX	138612944	138612944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcagcgcgtgaacatgatCatggcagaatcaccaggcct	12	7	11	11	2	2	3	2	2	0	1	2	3	2	3	2	2	3	2	2	2	2	0			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:138612944C>G	ENST00000218099.2	+	1	28	c.21C>G	c.(19-21)atC>atG	p.I7M	F9_ENST00000479617.1_3'UTR|F9_ENST00000394090.2_Missense_Mutation_p.I7M	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	7			I -> F.		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGAACATGATCATGGCAGAAT	0.413													13	144					0	0	0	0	G	138612944	C	G	138612944	3	3	142	1	0	0	0	0	1	0	0	0	5392	816	29	2	23	2	F9	23	138612944	Missense_Mutation	SNP	C	TCGA-CQ-6218-01A-11D-1912-08	20026936	138612944	16657616	155	26901											
AFF2	2334	broad.mit.edu	37	chrX	148037550	148037550	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcactcccaaagaaaaaGaaagtgtggagcttcatgac	16	6	10	9	0	1	3	1	1	0	2	2	4	2	4	1	1	2	3	1	1	4	1			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:148037550G>C	ENST00000370460.2	+	11	2454	c.1975G>C	c.(1975-1977)Gaa>Caa	p.E659Q	AFF2_ENST00000370457.5_Missense_Mutation_p.E626Q|AFF2_ENST00000342251.3_Missense_Mutation_p.E626Q|AFF2_ENST00000286437.5_Missense_Mutation_p.E300Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	659					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGAAAAAGAAAGTGTGGA	0.483													39	159					0	0	0	0	C	148037550	G	C	148037550	3	2	142	1	0	0	0	0	1	0	0	0	357	943	33	2	2072	2	AFF2	23	148037550	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	9424606	148037550	7233010	156	26902											
MAGEA11	4110	broad.mit.edu	37	chrX	148797305	148797305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggaggacaggagtcccagGagaacccagaggatcactgg	12	4	15	10	0	1	2	1	0	0	2	2	7	2	6	2	6	1	0	2	6	1	0			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:148797305G>T	ENST00000355220.5	+	4	336	c.234G>T	c.(232-234)agG>agT	p.R78S	MAGEA11_ENST00000333104.4_Missense_Mutation_p.R49S	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	78						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGAGTCCCAGGAGAACCCAGA	0.502													31	124					1.99505e-19	3.27278e-19	1	0	T	148797305	G	T	148797305	3	4	142	1	0	0	0	0	1	0	0	0	9230	1165	41	2	257	2	MAGEA11	23	148797305	Missense_Mutation	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	759755	148797305	6473255	157	26903											
PNMA5	114824	broad.mit.edu	37	chrX	152159807	152159807	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcatacttcggccctcAtctttcaggaagtagttcag	8	14	8	11	1	6	0	4	0	2	0	7	1	6	1	1	2	1	2	1	2	3	5			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:152159807A>G	ENST00000439251.1	-	2	774	c.336T>C	c.(334-336)gaT>gaC	p.D112D	PNMA5_ENST00000361887.5_Silent_p.D112D|PNMA5_ENST00000535214.1_Silent_p.D112D|PNMA5_ENST00000452693.1_Silent_p.D112D	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	112					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ttcggccctcatctttcagga	0.547													46	241					0	0	0	0	G	152159807	A	G	152159807	2	3	142	1	0	0	0	0	0	0	0	1	12228	214	8	5		5	PNMA5	23	152159807	Silent	SNP	A	TCGA-CQ-6218-01A-11D-1912-08	3362502	152159807	3110753	158	26904											
LAGE3	8270	broad.mit.edu	37	chrX	153706741	153706741	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggggtcgggaaaggcacGctgagggtgctgggggtcat	8	6	21	6	2	1	1	1	1	0	0	2	2	1	2	0	7	1	3	0	7	2	0			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:153706741G>A	ENST00000357360.4	-	2	539	c.198C>T	c.(196-198)agC>agT	p.S66S	LAGE3_ENST00000407062.1_Silent_p.S66S	NM_006014.3	NP_006005.2	Q14657	LAGE3_HUMAN	L antigen family, member 3	66							protein binding			lung(2)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAAAGGCACGCTGAGGGTGC	0.602													24	110					0	0	0	0	A	153706741	G	A	153706741	2	1	142	1	0	0	0	0	0	0	0	1	8654	1078	38	1		1	LAGE3	23	153706741	Silent	SNP	G	TCGA-CQ-6218-01A-11D-1912-08	1546934	153706741	1563819	159	26905											
PABPC4	8761	broad.mit.edu	37	chr1	40036937	40036937	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaggagcatgccattcaTcttctcgatggccttgtcgg	7	13	11	10	2	3	1	1	1	2	0	5	3	3	2	2	3	2	1	2	3	0	4			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:40036937T>C	ENST00000372857.3	-	3	1264	c.472A>G	c.(472-474)Atg>Gtg	p.M158V	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.M158V|PABPC4_ENST00000372858.3_Missense_Mutation_p.M158V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M158V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	158	RRM 2.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATGCCATTCATCTTCTCGATG	0.552													21	160					0	0	0	0	C	40036937	T	C	40036937	3	2	143	1	0	0	0	0	1	0	0	0	11437	1435	50	5	1562	5	PABPC4	1	40036937	Missense_Mutation	SNP	T	TCGA-CQ-6219-01A-11D-1912-08		40036937	209213684	1	26906											
KANK4	163782	broad.mit.edu	37	chr1	62740512	62740512	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accacgggagaccagttttgGaggggcggggctgcaggggg	7	5	21	8	2	0	1	0	0	0	1	0	3	0	2	2	8	1	3	2	8	0	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:62740512G>A	ENST00000371153.4	-	3	642	c.264C>T	c.(262-264)ctC>ctT	p.L88L	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	88										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACCAGTTTTGGAGGGGCGGGG	0.602													6	153					0	0	0	0	A	62740512	G	A	62740512	2	1	143	1	0	0	0	0	0	0	0	1	8032	1161	41	2		2	KANK4	1	62740512	Silent	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	22703575	62740512	186510109	2	26907											
HRNR	388697	broad.mit.edu	37	chr1	152191918	152191918	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtcctgacctagagccGtgttttctgtagccggagga	7	11	13	10	2	1	2	0	1	1	1	2	5	2	4	4	2	2	2	4	2	2	4	rs146453724	byFrequency	TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:152191918G>A	ENST00000368801.2	-	3	2262	c.2187C>T	c.(2185-2187)caC>caT	p.H729H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	729					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTAGAGCCGTGTTTTCTGT	0.537													20	248					0	0	0	0	A	152191918	G	A	152191918	2	1	143	1	0	0	0	0	0	0	0	1	7409	1136	40	1		1	HRNR	1	152191918	Silent	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	89451406	152191918	97058703	3	26908											
COPA	1314	broad.mit.edu	37	chr1	160276272	160276272	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatctcattcttcagattCttgatcagaagctgcaataa	12	14	7	8	0	5	4	3	2	3	2	6	4	5	4	0	0	2	2	0	0	3	5			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:160276272C>T	ENST00000241704.7	-	15	1543	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	COPA_ENST00000368069.3_Silent_p.K438K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	438					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTTCAGATTCTTGATCAGAA	0.413													7	59					0	0	0	0	T	160276272	C	T	160276272	2	4	143	1	0	0	0	0	0	0	0	1	3757	912	32	2		2	COPA	1	160276272	Silent	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	8084354	160276272	88974349	4	26909											
NBAS	51594	broad.mit.edu	37	chr2	15374713	15374713	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcactctgcactatatcCttgggtgagatgtcaagagg	10	12	11	8	0	2	2	1	1	1	2	3	3	3	2	1	2	2	2	1	2	3	4			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:15374713C>T	ENST00000281513.5	-	46	6127	c.6102G>A	c.(6100-6102)aaG>aaA	p.K2034K	NBAS_ENST00000441750.1_Silent_p.K1914K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2034										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCACTATATCCTTGGGTGAGA	0.443													5	69					0	0	0	0	T	15374713	C	T	15374713	2	4	143	1	0	0	0	0	0	0	0	1	10256	680	24	4		4	NBAS	2	15374713	Silent	SNP	C	TCGA-CQ-6219-01A-11D-1912-08		15374713	227824660	5	26910											
RDH14	57665	broad.mit.edu	37	chr2	18736913	18736913	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaactaccacaatcctGctgggagctgaacttttgag	13	9	10	9	0	0	3	0	2	0	1	1	5	1	4	2	1	5	2	2	1	5	3			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:18736913G>A	ENST00000381249.3	-	2	662	c.555C>T	c.(553-555)agC>agT	p.S185S	RDH14_ENST00000468071.1_5'UTR|NT5C1B-RDH14_ENST00000532967.1_3'UTR	NM_020905.3	NP_065956.1			retinol dehydrogenase 14 (all-trans/9-cis/11-cis)											breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)					CCACAATCCTGCTGGGAGCTG	0.408													6	68					0	0	0	0	A	18736913	G	A	18736913	2	1	143	1	0	0	0	0	0	0	0	1	13275	1310	46	4		4	RDH14	2	18736913	Silent	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	3362200	18736913	224462460	6	26911											
SLC30A3	7781	broad.mit.edu	37	chr2	27480185	27480186	+	Frame_Shift_Ins	INS	-	-	G																															tcccctagacccgtggctgtINSgggggggcccagcctggtgc																								rs148758588		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:27480185_27480186insG	ENST00000233535.4	-	5	965_966	c.613_614insC	c.(613-615)cagfs	p.Q205fs	SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.Q200fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	205					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGTGGCTGTGGGGGGGCCCA	0.658													5	9	---	---	---	---					G	27480186	-	G	27480185	7	5	143	1	0	1	1	0	0	0	0	0	14644	1696	59	0	568	0	SLC30A3	2	27480185	Frame_Shift_Ins	INS	-	TCGA-CQ-6219-01A-11D-1912-08	8743272	27480185	215719188	7	26912											
CTNNA2	1496	broad.mit.edu	37	chr2	80085227	80085227	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggtacgggcggcaagggcTttgctctccgcggtgacacg	6	8	16	11	5	1	1	0	1	1	0	2	1	1	1	1	5	2	4	1	5	2	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:80085227T>G	ENST00000466387.1	+	8	1111	c.387T>G	c.(385-387)gcT>gcG	p.A129A	CTNNA2_ENST00000361291.4_Silent_p.A163A|CTNNA2_ENST00000540488.1_Silent_p.A129A|CTNNA2_ENST00000541047.1_Silent_p.A129A|CTNNA2_ENST00000402739.4_Silent_p.A129A|CTNNA2_ENST00000496558.1_Silent_p.A129A			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	129					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGGCAAGGGCTTTGCTCTCCG	0.532													7	97					0	0	0	0	G	80085227	T	G	80085227	2	3	143	1	0	0	0	0	0	0	0	1	4045	1596	56	5		5	CTNNA2	2	80085227	Silent	SNP	T	TCGA-CQ-6219-01A-11D-1912-08	52605042	80085227	163114146	8	26913											
RIF1	55183	broad.mit.edu	37	chr2	152319685	152319685	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccccataccctacaagtcgGaggcaaacctttattacttt	11	11	5	14	1	0	0	0	0	0	0	1	1	0	1	4	2	4	1	4	2	6	6			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:152319685G>A	ENST00000243326.4	+	29	4134	c.3651G>A	c.(3649-3651)cgG>cgA	p.R1217R	RIF1_ENST00000430328.2_Silent_p.R1217R|RIF1_ENST00000444746.2_Silent_p.R1217R|RIF1_ENST00000428287.2_Silent_p.R1217R|RIF1_ENST00000453091.2_Silent_p.R1217R			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1217					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTACAAGTCGGAGGCAAACCT	0.388													11	64					0	0	0	0	A	152319685	G	A	152319685	2	1	143	1	0	0	0	0	0	0	0	1	13442	1161	41	2		2	RIF1	2	152319685	Silent	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	72234458	152319685	90879688	9	26914											
KCNJ3	3760	broad.mit.edu	37	chr2	155566303	155566303	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacagttcgagattgtcgtCatcctagaaggcattgtgga	11	11	12	7	2	1	2	1	0	0	2	4	5	2	3	1	2	1	2	1	2	3	4			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:155566303C>T	ENST00000295101.2	+	2	1368	c.891C>T	c.(889-891)gtC>gtT	p.V297V	KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	297					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGATTGTCGTCATCCTAGAAG	0.413													4	55					0	0	0	0	T	155566303	C	T	155566303	2	4	143	1	0	0	0	0	0	0	0	1	8105	813	29	2		2	KCNJ3	2	155566303	Silent	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	3246618	155566303	87633070	10	26915											
ITGAV	3685	broad.mit.edu	37	chr2	187529348	187529348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgcaggctgatttcatcGgggttgtccgaaacaatgaa	11	10	11	9	2	1	2	1	2	0	0	3	3	2	2	1	3	2	3	1	3	3	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:187529348G>A	ENST00000261023.3	+	20	2327	c.2053G>A	c.(2053-2055)Ggg>Agg	p.G685R	ITGAV_ENST00000433736.2_Missense_Mutation_p.G639R|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.G649R	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	685					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	p.G685W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TGATTTCATCGGGGTTGTCCG	0.433													14	137					0	0	0	0	A	187529348	G	A	187529348	3	1	143	1	0	0	0	0	1	0	0	0	7941	1116	39	1	2182	1	ITGAV	2	187529348	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	31963045	187529348	55670025	11	26916											
PLCL1	5334	broad.mit.edu	37	chr2	198948736	198948736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatttctgccataaaagaGatcagactggggaaaaacac	17	8	9	7	0	2	2	1	0	1	2	2	5	2	3	1	2	2	0	1	2	5	3			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:198948736G>T	ENST00000428675.1	+	2	893	c.495G>T	c.(493-495)gaG>gaT	p.E165D	PLCL1_ENST00000437704.2_Missense_Mutation_p.E67D	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	165	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E67E(1)|p.E165E(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCATAAAAGAGATCAGACTGG	0.453													23	67					2.70639e-06	3.4281e-06	1	0	T	198948736	G	T	198948736	3	4	143	1	0	0	0	0	1	0	0	0	12111	933	33	2	501	2	PLCL1	2	198948736	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	11419388	198948736	44250637	12	26917											
PAX3	5077	broad.mit.edu	37	chr2	223066811	223066811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgcagctggccgacacCgtggtggtaggttccagacc	7	8	14	12	2	0	2	0	1	0	1	1	3	1	2	4	4	2	4	4	4	1	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:223066811C>T	ENST00000350526.4	-	8	1408	c.1272G>A	c.(1270-1272)acG>acA	p.T424T	PAX3_ENST00000392070.2_Silent_p.T424T|PAX3_ENST00000409551.3_Silent_p.T423T|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000392069.2_Silent_p.T424T|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000344493.4_Intron	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	424					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCCGACACCGTGGTGGTAG	0.577			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						6	40					0	0	0	0	T	223066811	C	T	223066811	2	4	143	1	0	0	0	0	0	0	0	1	11551	639	23	1		1	PAX3	2	223066811	Silent	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	24118075	223066811	20132562	13	26918											
TRIP12	9320	broad.mit.edu	37	chr2	230650483	230650483	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaagctcacctcattttcaTactggatttctaacatggcc	10	13	5	13	0	4	0	3	0	1	0	4	1	4	1	3	2	3	1	3	2	3	5			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:230650483T>A	ENST00000283943.5	-	33	5037	c.4859A>T	c.(4858-4860)tAt>tTt	p.Y1620F	TRIP12_ENST00000389044.4_Missense_Mutation_p.Y1668F|TRIP12_ENST00000389045.3_Missense_Mutation_p.Y1350F	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1620					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTCATTTTCATACTGGATTTC	0.438													7	89					0	0	0	0	A	230650483	T	A	230650483	3	1	143	1	0	0	0	0	1	0	0	0	16651	1406	49	5	1155	5	TRIP12	2	230650483	Missense_Mutation	SNP	T	TCGA-CQ-6219-01A-11D-1912-08	7583672	230650483	12548890	14	26919											
ABHD10	55347	broad.mit.edu	37	chr3	111710339	111710340	+	Frame_Shift_Ins	INS	-	-	A																															gctgaacatcactgcttgttINSacatagcccaattcctgtga																										TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:111710339_111710340insA	ENST00000273359.3	+	5	719_720	c.692_693insA	c.(691-693)tcafs	p.S231fs	ABHD10_ENST00000494817.1_3'UTR|ABHD10_ENST00000534857.1_Frame_Shift_Ins_p.S74fs	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	231						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						CACTGCTTGTTACATAGCCCAA	0.431													20	121	---	---	---	---					A	111710340	-	A	111710339	7	5	143	1	0	1	1	0	0	0	0	0	74	1764	61	0	710	0	ABHD10	3	111710339	Frame_Shift_Ins	INS	-	TCGA-CQ-6219-01A-11D-1912-08		111710339	86312091	15	26920											
POLQ	10721	broad.mit.edu	37	chr3	121206259	121206259	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccgccactccttaatgAatgtttggaaaagattttgg	11	13	9	8	1	0	2	0	1	0	1	1	3	1	3	3	2	1	2	3	2	4	4			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:121206259A>T	ENST00000264233.5	-	16	5647	c.5519T>A	c.(5518-5520)tTc>tAc	p.F1840Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1840					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCCTTAATGAATGTTTGGAA	0.393								DNA polymerases (catalytic subunits)					9	82					0	0	0	0	T	121206259	A	T	121206259	3	4	143	1	0	0	0	0	1	0	0	0	12280	246	9	5	2313	5	POLQ	3	121206259	Missense_Mutation	SNP	A	TCGA-CQ-6219-01A-11D-1912-08	9495920	121206259	76816171	16	26921											
DHX36	170506	broad.mit.edu	37	chr3	154027540	154027540	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaatgaactgagtaacttGagtggttttgccacaaccag	14	10	9	8	0	0	3	0	3	0	0	0	3	0	3	2	1	4	2	2	1	5	4			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:154027540G>A	ENST00000496811.1	-	5	795	c.715C>T	c.(715-717)Caa>Taa	p.Q239*	DHX36_ENST00000544526.1_Nonsense_Mutation_p.Q239*|DHX36_ENST00000308361.6_Nonsense_Mutation_p.Q239*|DHX36_ENST00000329463.5_Nonsense_Mutation_p.Q239*	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	239	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGAGTAACTTGAGTGGTTTTG	0.338													5	29					0	0	0	0	A	154027540	G	A	154027540	4	1	143	1	0	0	0	0	0	1	0	0	4546	1299	45	2	2395	2	DHX36	3	154027540	Nonsense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	32821281	154027540	43994890	17	26922											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	53					0	0	0	0	A	178936091	G	A	178936091	3	1	143	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	24908551	178936091	19086339	18	26923											
PSMD2	5708	broad.mit.edu	37	chr3	184025484	184025484	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacaacctcttcatggtGcgcttggcacaggtaaagaa	13	8	9	11	1	2	1	1	0	1	1	2	1	2	1	2	3	3	3	2	3	5	3			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:184025484G>A	ENST00000310118.4	+	18	2844	c.2286G>A	c.(2284-2286)gtG>gtA	p.V762V	PSMD2_ENST00000439383.1_Silent_p.V632V|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Silent_p.V603V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	762					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TCTTCATGGTGCGCTTGGCAC	0.507													7	46					0	0	0	0	A	184025484	G	A	184025484	2	1	143	1	0	0	0	0	0	0	0	1	12777	1306	46	4		4	PSMD2	3	184025484	Silent	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	5089393	184025484	13996946	19	26924											
LGI2	55203	broad.mit.edu	37	chr4	25005706	25005706	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacaaagaacgtctcgtcGtcgatctgaaacagctcgat	13	9	9	10	5	2	3	0	2	2	1	6	5	2	3	0	0	3	1	0	0	3	0			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr4:25005706G>A	ENST00000382114.4	-	8	1190	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	335						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ACGTCTCGTCGTCGATCTGAA	0.443													14	81					0	0	0	0	A	25005706	G	A	25005706	2	1	143	1	0	0	0	0	0	0	0	1	8806	1136	40	1		1	LGI2	4	25005706	Silent	SNP	G	TCGA-CQ-6219-01A-11D-1912-08		25005706	166148570	20	26925											
WDFY3	23001	broad.mit.edu	37	chr4	85701359	85701359	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatataacccttccacatCagaggccatggccaccaggc	11	7	8	15	0	1	1	1	0	0	1	2	1	2	1	5	3	2	1	5	3	2	3			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr4:85701359C>A	ENST00000322366.6	-	26	4674	c.4267G>T	c.(4267-4269)Gat>Tat	p.D1423Y	WDFY3_ENST00000295888.4_Missense_Mutation_p.D1423Y			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1423						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCTTCCACATCAGAGGCCATG	0.507													23	123					3.62473e-10	4.63547e-10	1	0	A	85701359	C	A	85701359	3	1	143	1	0	0	0	0	1	0	0	0	17366	826	29	2	6485	2	WDFY3	4	85701359	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	60695653	85701359	105452917	21	26926											
CENPE	1062	broad.mit.edu	37	chr4	104082361	104082361	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctccaactggctttgataTaactgaatatcattttccat	11	15	5	10	0	1	2	1	2	0	0	3	2	3	2	3	1	2	1	3	1	5	6			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr4:104082361T>A	ENST00000265148.3	-	20	2102	c.2013A>T	c.(2011-2013)ttA>ttT	p.L671F	CENPE_ENST00000380026.3_Missense_Mutation_p.L646F	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	671					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GGCTTTGATATAACTGAATAT	0.323													5	32					0	0	0	0	A	104082361	T	A	104082361	3	1	143	1	0	0	0	0	1	0	0	0	3259	1403	49	5	6212	5	CENPE	4	104082361	Missense_Mutation	SNP	T	TCGA-CQ-6219-01A-11D-1912-08	18381002	104082361	87071915	22	26927											
MOCS2	4338	broad.mit.edu	37	chr5	52398014	52398014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctcggcagtaaagtttaTaacatctttagatttctctt	10	19	5	7	1	3	1	0	0	3	1	5	1	3	1	0	1	1	3	0	1	5	9			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr5:52398014T>C	ENST00000396954.3	-	4	816	c.139A>G	c.(139-141)Ata>Gta	p.I47V	MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000584946.1_Intron|MOCS2_ENST00000510818.2_3'UTR	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				GTAAAGTTTATAACATCTTTA	0.358													3	22					0	0	0	0	C	52398014	T	C	52398014	3	2	143	1	0	0	0	0	1	0	0	0	9761	1406	49	5	443	5	MOCS2	5	52398014	Missense_Mutation	SNP	T	TCGA-CQ-6219-01A-11D-1912-08		52398014	128517246	23	26928											
RASA1	5921	broad.mit.edu	37	chr5	86658371	86658371	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttttttaaaattcaggatCaagaacaagtactcaatgac	16	13	6	6	0	3	2	3	1	0	1	3	3	3	3	0	1	2	2	0	1	7	5			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr5:86658371C>G	ENST00000456692.2	+	10	920	c.805C>G	c.(805-807)Caa>Gaa	p.Q269E	RASA1_ENST00000506290.1_Missense_Mutation_p.Q280E|RASA1_ENST00000512763.1_Missense_Mutation_p.Q279E|RASA1_ENST00000274376.6_Missense_Mutation_p.Q446E	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	446	SH2 1.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AATTCAGGATCAAGAACAAGT	0.294													6	61					0	0	0	0	G	86658371	C	G	86658371	3	3	143	1	0	0	0	0	1	0	0	0	13142	827	29	2	1386	2	RASA1	5	86658371	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	34260357	86658371	94256889	24	26929											
PAM	5066	broad.mit.edu	37	chr5	102296933	102296933	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagaagaagtgttagaccagGgtatgtatgcttatttctat	13	14	10	4	0	1	3	0	0	1	3	1	3	1	3	1	1	1	4	1	1	8	6			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr5:102296933G>C	ENST00000438793.3	+	13	1632	c.1162_splice	c.e13+1	p.G388_splice	PAM_ENST00000274392.9_Splice_Site_p.G291_splice|PAM_ENST00000455264.2_Splice_Site_p.G388_splice|PAM_ENST00000346918.2_Splice_Site_p.G388_splice|PAM_ENST00000348126.2_Splice_Site_p.D388_splice|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Splice_Site_p.G388_splice	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	388	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GTTAGACCAGGGTATGTATGC	0.333													4	59					0	0	0	0	C	102296933	G	C	102296933	5	2	143	1	0	0	0	0	0	0	1	0	11483	1246	43	4	1212	4	PAM	5	102296933	Splice_Site	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	15638562	102296933	78618327	25	26930											
RBM27	54439	broad.mit.edu	37	chr5	145651234	145651234	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagacttgcttcagcatttCtcagtaagtttttaaaatag	13	15	7	6	0	2	1	2	0	1	1	3	2	2	1	0	0	2	4	0	0	5	8			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr5:145651234C>T	ENST00000265271.5	+	19	3151	c.2985C>T	c.(2983-2985)ttC>ttT	p.F995F	RBM27_ENST00000506502.1_Silent_p.F940F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	995					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGCATTTCTCAGTAAGTT	0.383													5	32					0	0	0	0	T	145651234	C	T	145651234	2	4	143	1	0	0	0	0	0	0	0	1	13209	912	32	2		2	RBM27	5	145651234	Silent	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	43354301	145651234	35264026	26	26931											
VPS52	6293	broad.mit.edu	37	chr6	33237326	33237326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgctatattctcactctCttgaatatctgatccacaaa	13	14	4	10	0	3	3	1	2	3	1	6	3	4	3	1	0	1	1	1	0	5	5			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:33237326C>G	ENST00000445902.2	-	5	531	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	105					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCTCACTCTCTTGAATATCT	0.428													6	88					0	0	0	0	G	33237326	C	G	33237326	3	3	143	1	0	0	0	0	1	0	0	0	17310	922	32	2	1922	2	VPS52	6	33237326	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08		33237326	137877741	27	26932											
TTBK1	84630	broad.mit.edu	37	chr6	43220516	43220516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggctttggtgagatctacGaggccatggacctgctgacc	7	9	15	10	1	1	2	0	2	1	1	1	5	1	3	3	5	2	2	3	5	1	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:43220516G>A	ENST00000259750.4	+	3	231	c.148G>A	c.(148-150)Gag>Aag	p.E50K	TTBK1_ENST00000304139.5_5'UTR	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	50	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGAGATCTACGAGGCCATGGA	0.592													7	77					0	0	0	0	A	43220516	G	A	43220516	3	1	143	1	0	0	0	0	1	0	0	0	16772	1059	37	1	154	1	TTBK1	6	43220516	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	9983190	43220516	127894551	28	26933											
HSP90AB1	3326	broad.mit.edu	37	chr6	44217204	44217204	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgacatcatccccaaccctCaggaacgtaccctgactttg	10	10	6	15	1	2	2	2	2	0	0	3	3	3	3	4	1	3	1	4	1	3	3			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:44217204C>T	ENST00000371554.1	+	3	452	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.Q80*|HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.Q80*			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	80					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCCAACCCTCAGGAACGTAC	0.458													11	70					0	0	0	0	T	44217204	C	T	44217204	4	4	143	1	0	0	0	0	0	1	0	0	7454	827	29	2	244	2	HSP90AB1	6	44217204	Nonsense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	996688	44217204	126897863	29	26934											
HSP90AB1	3326	broad.mit.edu	37	chr6	44221083	44221083	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatccccagacccactccaAccgcatctatcgcatgatca	11	7	6	17	2	2	2	1	1	1	1	5	3	4	3	5	1	1	2	5	1	2	1			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:44221083A>T	ENST00000371554.1	+	11	2247	c.2033A>T	c.(2032-2034)aAc>aTc	p.N678I	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.N678I|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.N678I			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	678					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCCACTCCAACCGCATCTAT	0.488													37	331					0	0	0	0	T	44221083	A	T	44221083	3	4	143	1	0	0	0	0	1	0	0	0	7454	43	2	5	2071	5	HSP90AB1	6	44221083	Missense_Mutation	SNP	A	TCGA-CQ-6219-01A-11D-1912-08	3879	44221083	126893984	30	26935											
EYS	346007	broad.mit.edu	37	chr6	66044987	66044987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgagaaaacatagatacCgatattcctgactgtcttct	13	13	6	9	1	3	3	0	2	3	2	4	5	4	3	2	0	2	0	2	0	5	5			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:66044987C>T	ENST00000503581.1	-	11	2189	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	EYS_ENST00000370618.3_Missense_Mutation_p.R551Q|EYS_ENST00000370621.3_Missense_Mutation_p.R551Q|EYS_ENST00000342421.5_Missense_Mutation_p.R551Q|EYS_ENST00000370616.2_Missense_Mutation_p.R551Q|EYS_ENST00000393380.2_Missense_Mutation_p.R551Q	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	551			R -> L.		response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACATAGATACCGATATTCCTG	0.358													9	47					0	0	0	0	T	66044987	C	T	66044987	3	4	143	1	0	0	0	0	1	0	0	0	5370	652	23	1	7876	1	EYS	6	66044987	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	21823904	66044987	105070080	31	26936											
FILIP1	27145	broad.mit.edu	37	chr6	76022996	76022996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggatacctgtctagaacaGaagatctttccacgggtttc	11	11	10	9	1	2	3	0	0	2	3	4	5	3	4	2	2	2	1	2	2	4	4			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:76022996G>A	ENST00000393004.2	-	5	2773	c.2552C>T	c.(2551-2553)tCt>tTt	p.S851F	FILIP1_ENST00000370020.1_Missense_Mutation_p.S752F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S851F			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	851										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTCTAGAACAGAAGATCTTTC	0.453													9	214					0	0	0	0	A	76022996	G	A	76022996	3	1	143	1	0	0	0	0	1	0	0	0	5939	942	33	2	1097	2	FILIP1	6	76022996	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	9978009	76022996	95092071	32	26937											
THSD7A	221981	broad.mit.edu	37	chr7	11676026	11676026	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccacatgcaggctgtacctGagctcctcggcctcgcatgg	6	8	11	16	2	0	1	0	1	0	0	3	1	1	1	4	3	3	5	4	3	1	1			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr7:11676026G>C	ENST00000423059.3	-	2	1004	c.753C>G	c.(751-753)ctC>ctG	p.L251L		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	251						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGCTGTACCTGAGCTCCTCGG	0.607										HNSCC(18;0.044)			15	54					0	0	0	0	C	11676026	G	C	11676026	2	2	143	1	0	0	0	0	0	0	0	1	15973	1277	45	2		2	THSD7A	7	11676026	Silent	SNP	G	TCGA-CQ-6219-01A-11D-1912-08		11676026	147462637	33	26938											
DNAH11	8701	broad.mit.edu	37	chr7	21721264	21721264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccatagatgtccatgccaGagacgtggtggcaaaactta	13	9	10	9	1	0	2	0	0	0	2	1	3	1	2	3	2	3	1	3	2	5	3			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr7:21721264G>A	ENST00000328843.6	+	31	5475	c.5444G>A	c.(5443-5445)aGa>aAa	p.R1815K	DNAH11_ENST00000409508.3_Missense_Mutation_p.R1810K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1815	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCCATGCCAGAGACGTGGTG	0.388									Kartagener syndrome				11	118					0	0	0	0	A	21721264	G	A	21721264	3	1	143	1	0	0	0	0	1	0	0	0	4636	942	33	2	5566	2	DNAH11	7	21721264	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	10045238	21721264	137417399	34	26939											
MRPS33	51650	broad.mit.edu	37	chr7	140710224	140710224	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtttgtcatcacctgtaGagtccaagaaatcggagcgt	10	12	11	8	2	2	2	2	0	0	2	4	3	3	3	2	1	1	2	2	1	3	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr7:140710224G>C	ENST00000393008.3	-	2	365	c.210C>G	c.(208-210)ctC>ctG	p.L70L	MRPS33_ENST00000467334.1_Silent_p.L60L|MRPS33_ENST00000469351.1_Silent_p.L70L|MRPS33_ENST00000496958.1_Silent_p.L70L|MRPS33_ENST00000324787.5_Silent_p.L70L	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	70					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					ATCACCTGTAGAGTCCAAGAA	0.408													13	85					0	0	0	0	C	140710224	G	C	140710224	2	2	143	1	0	0	0	0	0	0	0	1	9912	929	33	2		2	MRPS33	7	140710224	Silent	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	118988960	140710224	18428439	35	26940											
PRKDC	5591	broad.mit.edu	37	chr8	48815268	48815268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctgctgctgtggtgttaTttgcttaatggaccatttaa	7	17	9	8	0	0	0	0	0	0	0	1	1	1	1	2	2	3	4	2	2	3	5			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr8:48815268T>C	ENST00000314191.2	-	27	3186	c.3130A>G	c.(3130-3132)Ata>Gta	p.I1044V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I1044V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1044					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTGGTGTTATTTGCTTAATG	0.433								Non-homologous end-joining					3	52					0	0	0	0	C	48815268	T	C	48815268	3	2	143	1	0	0	0	0	1	0	0	0	12601	1493	52	5	9495	5	PRKDC	8	48815268	Missense_Mutation	SNP	T	TCGA-CQ-6219-01A-11D-1912-08		48815268	97548754	36	26941											
PHF20L1	51105	broad.mit.edu	37	chr8	133823320	133823320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catccaaagctgttggggttGatggtgctgaaaaaaaggaa	14	9	13	5	0	0	2	0	2	0	0	1	3	1	3	1	4	2	4	1	4	5	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr8:133823320G>C	ENST00000395386.2	+	9	1176	c.877G>C	c.(877-879)Gat>Cat	p.D293H	PHF20L1_ENST00000395376.1_Missense_Mutation_p.D298H|PHF20L1_ENST00000395383.1_Missense_Mutation_p.D297H|PHF20L1_ENST00000395390.2_Missense_Mutation_p.D268H|PHF20L1_ENST00000337920.4_Missense_Mutation_p.D267H|PHF20L1_ENST00000315808.10_Missense_Mutation_p.D293H|PHF20L1_ENST00000395374.1_Missense_Mutation_p.D132H|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395382.3_Missense_Mutation_p.D163H|PHF20L1_ENST00000395379.1_Missense_Mutation_p.D293H	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	293							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGTTGGGGTTGATGGTGCTGA	0.363													29	88					0	0	0	0	C	133823320	G	C	133823320	3	2	143	1	0	0	0	0	1	0	0	0	11904	1290	45	2	907	2	PHF20L1	8	133823320	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	85008052	133823320	12540702	37	26942											
UBAP2	55833	broad.mit.edu	37	chr9	33932597	33932597	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagagggctgcatgtgcaGagaggctgctctggtggctg	7	8	19	7	0	1	2	0	0	1	2	1	4	1	2	0	5	3	6	0	5	0	0			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:33932597G>C	ENST00000379238.1	-	19	2255	c.2138C>G	c.(2137-2139)tCt>tGt	p.S713C	UBAP2_ENST00000418786.2_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.S713C|UBAP2_ENST00000449054.1_Missense_Mutation_p.S713C|UBAP2_ENST00000379239.4_Missense_Mutation_p.S446C|UBAP2_ENST00000539807.1_Missense_Mutation_p.S468C			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	713										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGCATGTGCAGAGAGGCTGCT	0.567													3	30					0	0	0	0	C	33932597	G	C	33932597	3	2	143	1	0	0	0	0	1	0	0	0	16933	942	33	2	1265	2	UBAP2	9	33932597	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08		33932597	107280834	38	26943											
FAM120AOS	158293	broad.mit.edu	37	chr9	96214605	96214605	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaccccgccgccaaaggtCtggttcctgccgcccgtctg	4	7	12	18	4	2	0	0	0	2	0	3	0	3	0	7	3	1	2	7	3	1	1			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:96214605C>G	ENST00000375412.5	-	1	1269	c.387G>C	c.(385-387)caG>caC	p.Q129H	FAM120A_ENST00000277165.6_Silent_p.V136V|FAM120A_ENST00000375389.3_Silent_p.V136V|FAM120A_ENST00000333936.5_Silent_p.V136V|FAM120A_ENST00000340893.4_Silent_p.V136V	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	129										kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						CGCCAAAGGTCTGGTTCCTGC	0.701													4	29					0	0	0	0	G	96214605	C	G	96214605	3	3	143	1	0	0	0	0	1	0	0	0	5457	912	32	2	395	2	FAM120AOS	9	96214605	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	62282008	96214605	44998826	39	26944											
COL15A1	1306	broad.mit.edu	37	chr9	101748163	101748163	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggatcatcctctactacacGgagccaggctcccatgtgtc	8	9	9	15	2	2	0	1	0	1	0	5	2	4	2	3	3	3	1	3	3	2	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:101748163G>A	ENST00000375001.3	+	3	840	c.417G>A	c.(415-417)acG>acA	p.T139T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	139	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCTACTACACGGAGCCAGGCT	0.607													29	87					0	0	0	0	A	101748163	G	A	101748163	2	1	143	1	0	0	0	0	0	0	0	1	3702	1103	39	1		1	COL15A1	9	101748163	Silent	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	5533558	101748163	39465268	40	26945											
SMC2	10592	broad.mit.edu	37	chr9	106896745	106896745	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactcttttgcctggtgctaAtgctatgcttgcaccaccag	7	14	8	12	0	1	0	0	0	1	0	1	0	1	0	3	1	6	4	3	1	3	6			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:106896745A>G	ENST00000286398.7	+	23	3446	c.3158A>G	c.(3157-3159)aAt>aGt	p.N1053S	SMC2_ENST00000374793.3_Missense_Mutation_p.N1053S|SMC2_ENST00000303219.8_Missense_Mutation_p.N1053S|SMC2_ENST00000374787.3_Missense_Mutation_p.N1053S	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1053					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CCTGGTGCTAATGCTATGCTT	0.393													5	54					0	0	0	0	G	106896745	A	G	106896745	3	3	143	1	0	0	0	0	1	0	0	0	14871	101	4	5	3244	5	SMC2	9	106896745	Missense_Mutation	SNP	A	TCGA-CQ-6219-01A-11D-1912-08	5148582	106896745	34316686	41	26946											
DAB2IP	153090	broad.mit.edu	37	chr9	124522377	124522377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcactgtccacctgtacCgggagaccgacaagaagaag	12	5	12	12	3	1	3	1	0	0	3	2	5	2	3	4	2	1	1	4	2	4	1			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:124522377C>T	ENST00000408936.3	+	6	1011	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	DAB2IP_ENST00000309989.1_Missense_Mutation_p.R153W|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R249W			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	277	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCACCTGTACCGGGAGACCGA	0.612													12	80					0	0	0	0	T	124522377	C	T	124522377	3	4	143	1	0	0	0	0	1	0	0	0	4252	643	23	1	767	1	DAB2IP	9	124522377	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	17625632	124522377	16691054	42	26947											
NOTCH1	4851	broad.mit.edu	37	chr9	139413084	139413084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtagaaggaggccacaCggtcatggcaggtggcgccg	9	4	17	11	4	1	1	1	0	0	1	1	2	1	2	2	6	0	3	2	6	2	1			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:139413084C>T	ENST00000277541.6	-	6	1133	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	353	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.R353H(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGAGGCCACACGGTCATGGCA	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			5	15					0	0	0	0	T	139413084	C	T	139413084	3	4	143	1	0	0	0	0	1	0	0	0	10617	536	19	1	6725	1	NOTCH1	9	139413084	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	14890707	139413084	1800347	43	26948											
TSPAN14	81619	broad.mit.edu	37	chr10	82264528	82264528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgggctgtgggcatggagCgaaaaggtaggtgtaactgt	9	9	18	5	2	0	0	0	0	0	0	1	2	0	1	0	5	2	4	0	5	4	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr10:82264528C>T	ENST00000429989.2	+	3	349	c.126C>T	c.(124-126)agC>agT	p.S42S	TSPAN14_ENST00000372164.3_Intron|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372156.1_Silent_p.S42S|TSPAN14_ENST00000372158.1_Silent_p.S42S|TSPAN14_ENST00000341863.6_Silent_p.S42S	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	42						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			GGGCATGGAGCGAAAAGGTAG	0.517													16	86					0	0	0	0	T	82264528	C	T	82264528	2	4	143	1	0	0	0	0	0	0	0	1	16733	767	27	1		1	TSPAN14	10	82264528	Silent	SNP	C	TCGA-CQ-6219-01A-11D-1912-08		82264528	53270219	44	26949											
MICALCL	84953	broad.mit.edu	37	chr11	12313774	12313774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttcatcgtcttcccattCatcttccccaccatcttctt	5	17	1	18	1	6	0	2	0	4	0	10	0	9	0	5	0	0	0	5	0	0	6			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr11:12313774C>T	ENST00000256186.2	+	2	350	c.59C>T	c.(58-60)tCa>tTa	p.S20L		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	20	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		tcttcccattcatcttcccca	0.517													10	49					0	0	0	0	T	12313774	C	T	12313774	3	4	143	1	0	0	0	0	1	0	0	0	9641	838	29	2	61	2	MICALCL	11	12313774	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08		12313774	122692742	45	26950											
ABTB2	25841	broad.mit.edu	37	chr11	34182611	34182611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagactcgatccagatgtGcagcttccaggggactcctg	9	8	12	12	1	0	2	0	0	0	2	4	5	3	3	3	2	2	2	3	2	0	1			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr11:34182611G>A	ENST00000435224.2	-	11	2660	c.2236C>T	c.(2236-2238)Cac>Tac	p.H746Y	ABTB2_ENST00000298992.2_Missense_Mutation_p.H560Y	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	560							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				ATCCAGATGTGCAGCTTCCAG	0.622													4	17					0	0	0	0	A	34182611	G	A	34182611	3	1	143	1	0	0	0	0	1	0	0	0	103	1319	46	4	869	4	ABTB2	11	34182611	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	21868837	34182611	100823905	46	26951											
SIDT2	51092	broad.mit.edu	37	chr11	117056884	117056884	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgctcttttgcctgggtAtatttctctccttttacctg	4	19	8	10	0	2	0	0	0	2	0	4	1	3	1	3	2	3	2	3	2	3	7			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr11:117056884A>G	ENST00000324225.4	+	9	1438	c.907A>G	c.(907-909)Ata>Gta	p.I303V	SIDT2_ENST00000431081.2_Missense_Mutation_p.I303V	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	303						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTGCCTGGGTATATTTCTCTC	0.557													18	93					0	0	0	0	G	117056884	A	G	117056884	3	3	143	1	0	0	0	0	1	0	0	0	14391	449	16	5	941	5	SIDT2	11	117056884	Missense_Mutation	SNP	A	TCGA-CQ-6219-01A-11D-1912-08	82874273	117056884	17949632	47	26952											
HIST4H4	121504	broad.mit.edu	37	chr12	14923813	14923813	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccgtgtaagtcaccgcgTcacggatcacgttctccagg	7	9	11	14	5	4	0	3	0	1	0	6	1	5	1	3	2	0	3	3	2	1	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr12:14923813T>C	ENST00000539745.1	-	1	252	c.206A>G	c.(205-207)gAc>gGc	p.D69G		NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	69					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						AGTCACCGCGTCACGGATCAC	0.617											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	85					0	0	0	0	C	14923813	T	C	14923813	3	2	143	1	0	0	0	0	1	0	0	0	7235	1667	58	5	109	5	HIST4H4	12	14923813	Missense_Mutation	SNP	T	TCGA-CQ-6219-01A-11D-1912-08		14923813	118928082	48	26953											
KRT6A	3853	broad.mit.edu	37	chr12	52886867	52886867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagcgggacacggagaCgctgctgaagccagagcggc	9	3	17	12	4	0	3	0	1	0	2	0	6	0	5	2	4	4	2	2	4	1	0			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr12:52886867C>T	ENST00000330722.6	-	1	174	c.106G>A	c.(106-108)Gtc>Atc	p.V36I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	36	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GACACGGAGACGCTGCTGAAG	0.667													5	105					0	0	0	0	T	52886867	C	T	52886867	3	4	143	1	0	0	0	0	1	0	0	0	8532	536	19	1	1624	1	KRT6A	12	52886867	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	37963054	52886867	80965028	49	26954											
COG3	83548	broad.mit.edu	37	chr13	46070356	46070356	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtacaggagcggctcgtctAccgaacccacatctatattc	10	10	8	13	3	2	0	0	0	2	0	4	2	2	1	2	2	4	2	2	2	5	5			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr13:46070356A>T	ENST00000349995.5	+	13	1509	c.1397A>T	c.(1396-1398)tAc>tTc	p.Y466F	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	466					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CGGCTCGTCTACCGAACCCAC	0.468													6	30					0	0	0	0	T	46070356	A	T	46070356	3	4	143	1	0	0	0	0	1	0	0	0	3689	391	14	5	1447	5	COG3	13	46070356	Missense_Mutation	SNP	A	TCGA-CQ-6219-01A-11D-1912-08		46070356	69099522	50	26955											
RPGRIP1	57096	broad.mit.edu	37	chr14	21795832	21795832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccaacggatctattcaaGtgcaactggattggaagttt	13	11	9	8	1	2	0	1	0	1	0	2	3	2	3	1	3	4	2	1	3	6	4			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr14:21795832G>A	ENST00000206660.6	+	17	2761	c.2761G>A	c.(2761-2763)Gtg>Atg	p.V921M	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.V883M|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.V578M|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.V921M|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.V247M|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.V280M			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	921					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ATCTATTCAAGTGCAACTGGA	0.433													12	55					0	0	0	0	A	21795832	G	A	21795832	3	1	143	1	0	0	0	0	1	0	0	0	13634	1029	36	4	2827	4	RPGRIP1	14	21795832	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08		21795832	85553708	51	26956											
ATP5S	27109	broad.mit.edu	37	chr14	50798919	50798919	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagccacaactgccatcctCaagtctagattccaactctc	13	9	4	15	0	3	1	1	0	2	1	6	1	5	1	4	0	4	0	4	0	5	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr14:50798919C>G	ENST00000358473.1	+	5	666	c.666C>G	c.(664-666)ctC>ctG	p.L222L	CDKL1_ENST00000395834.1_Intron|CDKL1_ENST00000216378.2_3'UTR			Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	0					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		CTGCCATCCTCAAGTCTAGAT	0.483													4	71					0	0	0	0	G	50798919	C	G	50798919	2	3	143	1	0	0	0	0	0	0	0	1	1167	841	29	2		2	ATP5S	14	50798919	Silent	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	29003087	50798919	56550621	52	26957											
EML5	161436	broad.mit.edu	37	chr14	89124674	89124674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtcatcataagtccagCgaacatttgtgacatgtgta	11	13	9	8	1	2	1	2	1	0	0	3	2	3	1	1	0	3	2	1	0	3	3			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr14:89124674C>T	ENST00000554922.1	-	26	3982	c.3734G>A	c.(3733-3735)cGc>cAc	p.R1245H	EML5_ENST00000380664.5_Missense_Mutation_p.R1245H|EML5_ENST00000352093.5_Missense_Mutation_p.R1207H	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1245						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATAAGTCCAGCGAACATTTGT	0.398													7	135					0	0	0	0	T	89124674	C	T	89124674	3	4	143	1	0	0	0	0	1	0	0	0	5138	768	27	1	2271	1	EML5	14	89124674	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	38325755	89124674	18224866	53	26958											
KLHL25	64410	broad.mit.edu	37	chr15	86312762	86312762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctccagcacctccgggtGcaggttgtcctggaagttga	7	9	13	12	1	0	1	0	1	0	0	3	2	3	2	4	3	3	5	4	3	1	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr15:86312762G>T	ENST00000337975.5	-	2	554	c.280C>A	c.(280-282)Cac>Aac	p.H94N	KLHL25_ENST00000536947.1_Missense_Mutation_p.H94N|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	94	BTB.					cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						ACCTCCGGGTGCAGGTTGTCC	0.612													4	73					0.00024832	0.000308659	1	0	T	86312762	G	T	86312762	3	4	143	1	0	0	0	0	1	0	0	0	8432	1319	46	4	1493	4	KLHL25	15	86312762	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08		86312762	16218630	54	26959											
MEFV	4210	broad.mit.edu	37	chr16	3293648	3293648	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acactcttcagatcatcagaGaagatgaggttggggtaagc	13	9	12	7	0	4	4	3	1	1	3	4	5	4	4	0	3	1	2	0	3	2	3			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr16:3293648G>C	ENST00000219596.1	-	10	1878	c.1839C>G	c.(1837-1839)ttC>ttG	p.F613L	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.F402L|MEFV_ENST00000339854.4_Missense_Mutation_p.F433L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	613	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GATCATCAGAGAAGATGAGGT	0.473													42	282					0	0	0	0	C	3293648	G	C	3293648	3	2	143	1	0	0	0	0	1	0	0	0	9528	933	33	2	510	2	MEFV	16	3293648	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08		3293648	87061105	55	26960											
TRAP1	10131	broad.mit.edu	37	chr16	3724418	3724418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgtagcggggcttgtcGtgagcctgcgcgacgtagcg	5	8	19	9	6	0	1	0	1	0	0	1	2	0	1	1	3	4	3	1	3	2	3			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr16:3724418G>A	ENST00000575671.1	-	4	1068	c.339C>T	c.(337-339)caC>caT	p.H113H	TRAP1_ENST00000538171.1_Silent_p.H269H|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000246957.5_Silent_p.H322H			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	322					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GGGGCTTGTCGTGAGCCTGCG	0.602													5	61					0	0	0	0	A	3724418	G	A	3724418	2	1	143	1	0	0	0	0	0	0	0	1	16550	1136	40	1		1	TRAP1	16	3724418	Silent	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	430770	3724418	86630335	56	26961											
ITGAX	3687	broad.mit.edu	37	chr16	31373519	31373520	+	Frame_Shift_Ins	INS	-	-	A																															tgtggacatgagggactcttINSacctgggtgagaaacagcca																										TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr16:31373519_31373520insA	ENST00000268296.4	+	11	1331_1332	c.1210_1211insA	c.(1210-1212)cctfs	p.P404fs	ITGAX_ENST00000562522.1_Frame_Shift_Ins_p.P404fs	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	404					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GAGGGACTCTTACCTGGGTGAG	0.599													15	94	---	---	---	---					A	31373520	-	A	31373519	7	5	143	1	0	1	1	0	0	0	0	0	7942	1754	61	0	1252	0	ITGAX	16	31373519	Frame_Shift_Ins	INS	-	TCGA-CQ-6219-01A-11D-1912-08	27649101	31373519	58981234	57	26962											
CDT1	81620	broad.mit.edu	37	chr16	88871192	88871192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccatctctgagcttgcgtCatgcctgcaacgggcccggg	6	8	12	15	3	2	1	1	1	1	0	3	1	2	1	3	2	5	2	3	2	1	1			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr16:88871192C>T	ENST00000301019.4	+	3	993	c.374C>T	c.(373-375)tCa>tTa	p.S125L		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	125					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GAGCTTGCGTCATGCCTGCAA	0.706													4	32					0	0	0	0	T	88871192	C	T	88871192	3	4	143	1	0	0	0	0	1	0	0	0	3209	838	29	2	384	2	CDT1	16	88871192	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	57497673	88871192	1483561	58	26963											
RPA1	6117	broad.mit.edu	37	chr17	1782859	1782859	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatgtgttttagacatcAtcgggatctgcaagagctat	10	13	11	7	1	2	2	1	0	1	2	3	3	2	3	0	1	3	4	0	1	3	3			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:1782859A>G	ENST00000254719.5	+	11	1068	c.958A>G	c.(958-960)Atc>Gtc	p.I320V		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	320					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TTTAGACATCATCGGGATCTG	0.493								Nucleotide excision repair (NER)					52	91					0	0	0	0	G	1782859	A	G	1782859	3	3	143	1	0	0	0	0	1	0	0	0	13621	217	8	5	1000	5	RPA1	17	1782859	Missense_Mutation	SNP	A	TCGA-CQ-6219-01A-11D-1912-08		1782859	79412351	59	26964											
TP53	7157	broad.mit.edu	37	chr17	7578211	7578211	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agggcaccaccacactatgtCgaaaagtgtttctgtcatcc	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:7578211C>G	ENST00000420246.2	-	6	770	c.638G>C	c.(637-639)cGa>cCa	p.R213P	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R213P|TP53_ENST00000445888.2_Missense_Mutation_p.R213P|TP53_ENST00000413465.2_Missense_Mutation_p.R213P|TP53_ENST00000359597.4_Missense_Mutation_p.R213P|TP53_ENST00000455263.2_Missense_Mutation_p.R213P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACACTATGTCGAAAAGTGTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	31					0	0	0	0	G	7578211	C	G	7578211	3	3	143	1	0	0	0	0	1	0	0	0	16476	884	31	3	656	3	TP53	17	7578211	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	5795352	7578211	73616999	60	26965											
MYO1D	4642	broad.mit.edu	37	chr17	31099821	31099821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaacctgatagaaagaatGaaagcttctttctcctggct	13	12	7	9	0	2	4	0	2	2	2	3	4	2	4	2	1	2	2	2	1	5	4	rs140725997		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:31099821G>T	ENST00000318217.5	-	5	908	c.604C>A	c.(604-606)Cat>Aat	p.H202N	MYO1D_ENST00000394649.4_Missense_Mutation_p.H114N|MYO1D_ENST00000583621.1_Missense_Mutation_p.H202N|MYO1D_ENST00000579584.1_Missense_Mutation_p.H202N	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	202	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TAGAAAGAATGAAAGCTTCTT	0.388													19	157					1.40151e-16	1.80972e-16	1	0	T	31099821	G	T	31099821	3	4	143	1	0	0	0	0	1	0	0	0	10141	1290	45	2	2488	2	MYO1D	17	31099821	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	23521610	31099821	50095389	61	26966											
ACACA	31	broad.mit.edu	37	chr17	35545260	35545260	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccttgtataggctgataTccaagtaatagccagactcg	11	12	8	10	1	0	2	0	1	0	1	3	2	2	2	3	1	1	3	3	1	6	7			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:35545260T>C	ENST00000353139.5	-	39	5214	c.4733A>G	c.(4732-4734)gAt>gGt	p.D1578G	ACACA_ENST00000335166.5_Missense_Mutation_p.D1463G|ACACA_ENST00000394406.2_Missense_Mutation_p.D1541G|ACACA_ENST00000360679.3_Missense_Mutation_p.D1483G	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1541					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAGGCTGATATCCAAGTAATA	0.468													3	46					0	0	0	0	C	35545260	T	C	35545260	3	2	143	1	0	0	0	0	1	0	0	0	106	1435	50	5	2490	5	ACACA	17	35545260	Missense_Mutation	SNP	T	TCGA-CQ-6219-01A-11D-1912-08	4445439	35545260	45649950	62	26967											
MED1	5469	broad.mit.edu	37	chr17	37571363	37571363	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttacagctcacatgtgttGagtcctgcacatccattacc	9	13	7	12	0	1	1	1	1	0	0	3	1	3	1	3	0	4	4	3	0	2	4	rs1139821		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:37571363G>C	ENST00000300651.6	-	16	1638	c.1415C>G	c.(1414-1416)tCa>tGa	p.S472*	MED1_ENST00000394287.3_Nonsense_Mutation_p.S472*	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	472	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.			DS -> GL (in Ref. 1; CAA73867).	androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CACATGTGTTGAGTCCTGCAC	0.418										HNSCC(31;0.082)			23	286					0	0	0	0	C	37571363	G	C	37571363	4	2	143	1	0	0	0	0	0	1	0	0	9494	1294	45	2	3338	2	MED1	17	37571363	Nonsense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	2026103	37571363	43623847	63	26968											
HOXB2	3212	broad.mit.edu	37	chr17	46622170	46622170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtcgactccttgattgatGaagtttgaaatgtctccaag	11	14	9	7	1	1	4	0	4	1	0	4	5	2	4	2	0	0	1	2	0	3	3			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:46622170G>A	ENST00000330070.4	-	1	1271	c.104C>T	c.(103-105)tCa>tTa	p.S35L	HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	35					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CTTGATTGATGAAGTTTGAAA	0.527													13	86					0	0	0	0	A	46622170	G	A	46622170	3	1	143	1	0	0	0	0	1	0	0	0	7351	1294	45	2	974	2	HOXB2	17	46622170	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	9050807	46622170	34573040	64	26969											
BPTF	2186	broad.mit.edu	37	chr17	65889610	65889610	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagtatcgcgtctaccacaAtcaatactccaccaattcat	14	10	4	13	2	3	0	2	0	1	0	5	1	4	0	3	0	2	1	3	0	7	4			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:65889610A>G	ENST00000321892.4	+	8	2619	c.2558A>G	c.(2557-2559)aAt>aGt	p.N853S	BPTF_ENST00000306378.6_Missense_Mutation_p.N727S|BPTF_ENST00000335221.5_Missense_Mutation_p.N853S|BPTF_ENST00000424123.3_Missense_Mutation_p.N714S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	853	Interaction with MAZ.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTCTACCACAATCAATACTCC	0.393													5	55					0	0	0	0	G	65889610	A	G	65889610	3	3	143	1	0	0	0	0	1	0	0	0	1503	101	4	5	2588	5	BPTF	17	65889610	Missense_Mutation	SNP	A	TCGA-CQ-6219-01A-11D-1912-08	19267440	65889610	15305600	65	26970											
KCNJ2	3759	broad.mit.edu	37	chr17	68172279	68172279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttagcagaaaagaaatatAtcctctcaaatgcaaattca	19	10	4	8	0	2	2	2	0	1	2	4	2	3	2	1	0	2	2	1	0	8	4			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:68172279A>G	ENST00000243457.3	+	2	1482	c.1099A>G	c.(1099-1101)Atc>Gtc	p.I367V	KCNJ2_ENST00000535240.1_Missense_Mutation_p.I367V	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	367					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AAAGAAATATATCCTCTCAAA	0.413													20	123					0	0	0	0	G	68172279	A	G	68172279	3	3	143	1	0	0	0	0	1	0	0	0	8104	449	16	5	1101	5	KCNJ2	17	68172279	Missense_Mutation	SNP	A	TCGA-CQ-6219-01A-11D-1912-08	2282669	68172279	13022931	66	26971											
RNF157	114804	broad.mit.edu	37	chr17	74161588	74161588	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctaaagtcactcaccttctCaaaagtacccagcagtacat	14	10	4	13	0	4	0	3	0	2	0	5	0	4	0	2	0	3	3	2	0	6	4			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:74161588C>G	ENST00000269391.6	-	7	799	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	RNF157_ENST00000319945.6_Missense_Mutation_p.E223Q	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	223							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CTCACCTTCTCAAAAGTACCC	0.483													12	144					0	0	0	0	G	74161588	C	G	74161588	3	3	143	1	0	0	0	0	1	0	0	0	13539	835	29	2	1424	2	RNF157	17	74161588	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	5989309	74161588	7033622	67	26972											
DLGAP1	9229	broad.mit.edu	37	chr18	3879519	3879519	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcgcgccgctccttgcTcttgctgcgtttgccatagc	2	12	10	17	5	1	0	0	0	1	0	3	0	3	0	4	0	5	4	4	0	1	4			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr18:3879519T>G	ENST00000315677.3	-	4	1145	c.550A>C	c.(550-552)Agc>Cgc	p.S184R	DLGAP1_ENST00000581527.1_Missense_Mutation_p.S184R|DLGAP1_ENST00000584874.1_Missense_Mutation_p.S184R|DLGAP1_ENST00000515196.2_Missense_Mutation_p.S184R|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	184					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGCTCCTTGCTCTTGCTGCGT	0.697													12	120					0	0	0	0	G	3879519	T	G	3879519	3	3	143	1	0	0	0	0	1	0	0	0	4596	1551	54	5	2478	5	DLGAP1	18	3879519	Missense_Mutation	SNP	T	TCGA-CQ-6219-01A-11D-1912-08		3879519	74197729	68	26973											
ANKRD12	23253	broad.mit.edu	37	chr18	9257921	9257921	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatacttttgtcctaggAgatgttcaaaaaacagatgc	16	11	8	6	0	1	2	1	0	0	2	2	4	2	2	1	1	3	1	1	1	7	5			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr18:9257921A>T	ENST00000383440.2	+	8	4844	c.4587A>T	c.(4585-4587)ggA>ggT	p.G1529G	ANKRD12_ENST00000400020.3_Silent_p.G1529G|ANKRD12_ENST00000262126.3_Silent_p.G1552G	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1552						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTGTCCTAGGAGATGTTCAAA	0.338													10	30					0	0	0	0	T	9257921	A	T	9257921	2	4	143	1	0	0	0	0	0	0	0	1	640	291	11	5		5	ANKRD12	18	9257921	Silent	SNP	A	TCGA-CQ-6219-01A-11D-1912-08	5378402	9257921	68819327	69	26974											
MALT1	10892	broad.mit.edu	37	chr18	56400691	56400691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcttcatggtccccgttGatgctccaaatccatatagg	10	11	8	12	1	1	1	1	1	0	0	4	1	4	1	4	2	2	3	4	2	3	4			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr18:56400691G>A	ENST00000348428.3	+	11	1543	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	MALT1_ENST00000345724.3_Missense_Mutation_p.D418N|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	429	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GGTCCCCGTTGATGCTCCAAA	0.343			T	BIRC3	MALT								7	85					0	0	0	0	A	56400691	G	A	56400691	3	1	143	1	0	0	0	0	1	0	0	0	9271	1290	45	2	1327	2	MALT1	18	56400691	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	47142770	56400691	21676557	70	26975											
INSR	3643	broad.mit.edu	37	chr19	7184590	7184590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacagttgcccaggcactcGctgtggcaacagaggccttc	9	7	12	13	1	0	1	0	0	0	1	2	2	0	1	2	3	3	4	2	3	2	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr19:7184590G>A	ENST00000341500.5	-	3	750	c.711C>T	c.(709-711)agC>agT	p.S237S	INSR_ENST00000302850.5_Silent_p.S237S	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	237	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCAGGCACTCGCTGTGGCAAC	0.587													4	42					0	0	0	0	A	7184590	G	A	7184590	2	1	143	1	0	0	0	0	0	0	0	1	7826	1078	38	1		1	INSR	19	7184590	Silent	SNP	G	TCGA-CQ-6219-01A-11D-1912-08		7184590	51944393	71	26976											
CCDC130	81576	broad.mit.edu	37	chr19	13873753	13873753	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcccgagggggcaggaaggGagccgtcaggacaagcccct	10	2	17	12	2	1	0	1	0	0	0	1	4	1	3	4	5	3	1	4	5	2	0			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr19:13873753G>C	ENST00000586600.1	+	11	1565	c.1062G>C	c.(1060-1062)ggG>ggC	p.G354G	CCDC130_ENST00000221554.8_Silent_p.G354G			P13994	CC130_HUMAN	coiled-coil domain containing 130	354					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GGCAGGAAGGGAGCCGTCAGG	0.692													6	21					0	0	0	0	C	13873753	G	C	13873753	2	2	143	1	0	0	0	0	0	0	0	1	2791	1161	41	2		2	CCDC130	19	13873753	Silent	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	6689163	13873753	45255230	72	26977											
MRI1	84245	broad.mit.edu	37	chr19	13879659	13879659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcgtgggagctgaccGcgtggttgccaacggcgaca	6	8	17	10	5	0	1	0	1	0	0	1	3	0	2	2	4	3	2	2	4	1	1			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr19:13879659G>A	ENST00000319545.8	+	5	662	c.605G>A	c.(604-606)cGc>cAc	p.R202H	MRI1_ENST00000040663.6_Missense_Mutation_p.R249H	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	249					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GGAGCTGACCGCGTGGTTGCC	0.652													6	33					0	0	0	0	A	13879659	G	A	13879659	3	1	143	1	0	0	0	0	1	0	0	0	9840	1087	38	1	857	1	MRI1	19	13879659	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	5906	13879659	45249324	73	26978											
ZNF430	80264	broad.mit.edu	37	chr19	21239599	21239599	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatctgcacaaagaatgttAtgatgaactaaaccagtgtt	16	12	7	6	0	1	3	0	2	1	1	1	3	1	3	1	0	3	3	1	0	7	4			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr19:21239599A>T	ENST00000261560.5	+	5	666	c.485A>T	c.(484-486)tAt>tTt	p.Y162F		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y162C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAAGAATGTTATGATGAACTA	0.303													4	31					0	0	0	0	T	21239599	A	T	21239599	3	4	143	1	0	0	0	0	1	0	0	0	17999	449	16	5	503	5	ZNF430	19	21239599	Missense_Mutation	SNP	A	TCGA-CQ-6219-01A-11D-1912-08	7359940	21239599	37889384	74	26979											
PPFIA3	8541	broad.mit.edu	37	chr19	49631641	49631641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggagtttgcagctctgacGaaggagctgaacttatgtcg	10	10	13	8	2	1	2	0	2	1	0	2	5	1	4	0	2	4	4	0	2	3	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr19:49631641G>A	ENST00000334186.4	+	3	607	c.258G>A	c.(256-258)acG>acA	p.T86T	PPFIA3_ENST00000602351.1_Silent_p.T86T	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	86						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CAGCTCTGACGAAGGAGCTGA	0.547													7	73					0	0	0	0	A	49631641	G	A	49631641	2	1	143	1	0	0	0	0	0	0	0	1	12382	1045	37	1		1	PPFIA3	19	49631641	Silent	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	28392042	49631641	9497342	75	26980											
PAK7	57144	broad.mit.edu	37	chr20	9520158	9520158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacgatgcaagacggtggaCctgctagttttaagaatgga	12	9	14	6	2	0	2	0	0	0	2	0	6	0	5	1	4	2	3	1	4	4	3			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr20:9520158C>A	ENST00000378429.3	-	11	2657	c.2111G>T	c.(2110-2112)gGt>gTt	p.G704V	PAK7_ENST00000353224.5_Missense_Mutation_p.G704V|PAK7_ENST00000378423.1_Missense_Mutation_p.G704V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	704			G -> S (in a metastatic melanoma sample; somatic mutation).				ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGACGGTGGACCTGCTAGTTT	0.512													23	186					3.10358e-05	3.89411e-05	1	0	A	9520158	C	A	9520158	3	1	143	1	0	0	0	0	1	0	0	0	11476	507	18	4	52	4	PAK7	20	9520158	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08		9520158	53505362	76	26981											
TM9SF4	9777	broad.mit.edu	37	chr20	30723921	30723921	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccagctaccttatgaataCtattcactgcccttctgcca	10	12	4	15	0	2	1	1	1	1	0	2	1	2	1	4	0	5	1	4	0	5	6			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr20:30723921C>G	ENST00000217315.5	+	3	463	c.123C>G	c.(121-123)taC>taG	p.Y41*	TM9SF4_ENST00000398022.2_Nonsense_Mutation_p.Y58*			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	58						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTTATGAATACTATTCACTGC	0.512													13	68					0	0	0	0	G	30723921	C	G	30723921	4	3	143	1	0	0	0	0	0	1	0	0	16074	576	20	4	184	4	TM9SF4	20	30723921	Nonsense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	21203763	30723921	32301599	77	26982											
GGT7	2686	broad.mit.edu	37	chr20	33451191	33451191	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggtgagacaggccgtgacGatgaccgtgagcccatcctg	10	6	14	11	3	0	4	0	4	0	1	1	6	1	4	4	2	1	0	4	2	1	0			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr20:33451191G>A	ENST00000336431.5	-	2	374	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	110					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGGCCGTGACGATGACCGTGA	0.677													9	72					0	0	0	0	A	33451191	G	A	33451191	2	1	143	1	0	0	0	0	0	0	0	1	6415	1048	37	1		1	GGT7	20	33451191	Silent	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	2727270	33451191	29574329	78	26983											
RBL1	5933	broad.mit.edu	37	chr20	35695243	35695243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaatgatgcagggtggctCttcagaagccgtaaagtcag	12	8	13	8	1	3	2	2	1	1	1	3	2	3	2	1	2	3	4	1	2	4	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr20:35695243C>G	ENST00000373664.3	-	6	796	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	RBL1_ENST00000344359.3_Missense_Mutation_p.E244Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	244					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CAGGGTGGCTCTTCAGAAGCC	0.388													6	131					0	0	0	0	G	35695243	C	G	35695243	3	3	143	1	0	0	0	0	1	0	0	0	13191	922	32	2	2553	2	RBL1	20	35695243	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	2244052	35695243	27330277	79	26984											
PFKL	5211	broad.mit.edu	37	chr21	45744411	45744411	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagtctgcctcggggaccaAgcgccgtgtgttcatcgtgg	6	9	14	12	4	2	0	1	0	1	0	4	1	2	1	3	3	2	1	3	3	1	1			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr21:45744411A>G	ENST00000403390.1	+	18	1829	c.1829A>G	c.(1828-1830)aAg>aGg	p.K610R	PFKL_ENST00000349048.4_Missense_Mutation_p.K563R			P17858	K6PL_HUMAN	phosphofructokinase, liver	563					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TCGGGGACCAAGCGCCGTGTG	0.662													13	51					0	0	0	0	G	45744411	A	G	45744411	3	3	143	1	0	0	0	0	1	0	0	0	11836	72	3	5	1754	5	PFKL	21	45744411	Missense_Mutation	SNP	A	TCGA-CQ-6219-01A-11D-1912-08		45744411	2385484	80	26985											
PCNT	5116	broad.mit.edu	37	chr21	47836599	47836599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccctgagcctgtgcagtgCcgacacatccctgggggaca	8	6	13	14	1	0	1	0	1	0	0	1	3	1	2	4	2	4	1	4	2	0	0			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr21:47836599C>T	ENST00000359568.5	+	30	6874	c.6767C>T	c.(6766-6768)gCc>gTc	p.A2256V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2256					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTGTGCAGTGCCGACACATCC	0.692													5	53					0	0	0	0	T	47836599	C	T	47836599	3	4	143	1	0	0	0	0	1	0	0	0	11661	739	26	4	6885	4	PCNT	21	47836599	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	2092188	47836599	293296	81	26986											
THAP7	80764	broad.mit.edu	37	chr22	21354371	21354371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcaagggctgcctcggctCgccgcttccagagtaaggcg	7	7	13	14	4	1	1	1	0	0	1	4	1	2	1	3	3	1	4	3	3	2	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr22:21354371C>T	ENST00000215742.4	-	4	902	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	THAP7_ENST00000399133.2_Missense_Mutation_p.R243Q	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	243					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGCCTCGGCTCGCCGCTTCCA	0.662													4	31					0	0	0	0	T	21354371	C	T	21354371	3	4	143	1	0	0	0	0	1	0	0	0	15943	884	31	1	205	1	THAP7	22	21354371	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08		21354371	29950195	82	26987											
DMD	1756	broad.mit.edu	37	chrX	31792157	31792157	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttataacttgatcaagcaGagaaagccagtcggtaagtt	14	12	9	6	1	1	2	1	1	0	1	2	3	1	2	1	1	3	3	1	1	5	6			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chrX:31792157G>A	ENST00000357033.4	-	51	7668	c.7462C>T	c.(7462-7464)Ctg>Ttg	p.L2488L	DMD_ENST00000378677.2_Silent_p.L2484L|DMD_ENST00000359836.1_Silent_p.L28L|DMD_ENST00000343523.2_Silent_p.L28L|DMD_ENST00000474231.1_Silent_p.L28L|DMD_ENST00000378707.3_Silent_p.L28L|DMD_ENST00000541735.1_Silent_p.L28L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2488					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGATCAAGCAGAGAAAGCCAG	0.438													10	81					0	0	0	0	A	31792157	G	A	31792157	2	1	143	1	0	0	0	0	0	0	0	1	4617	933	33	2		2	DMD	23	31792157	Silent	SNP	G	TCGA-CQ-6219-01A-11D-1912-08		31792157	123478403	83	26988											
WNK3	65267	broad.mit.edu	37	chrX	54324751	54324751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatgaatttgagcaatcatCttcttctgctaactccaccc	10	13	6	12	0	4	2	1	2	3	0	5	3	5	3	2	1	3	2	2	1	3	4			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chrX:54324751C>G	ENST00000354646.2	-	7	1693	c.1255G>C	c.(1255-1257)Gat>Cat	p.D419H	WNK3_ENST00000375159.2_Missense_Mutation_p.D419H|WNK3_ENST00000375169.3_Missense_Mutation_p.D419H	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	419					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GAGCAATCATCTTCTTCTGCT	0.363													6	48					0	0	0	0	G	54324751	C	G	54324751	3	3	143	1	0	0	0	0	1	0	0	0	17475	913	32	2	4219	2	WNK3	23	54324751	Missense_Mutation	SNP	C	TCGA-CQ-6219-01A-11D-1912-08	22532594	54324751	100945809	84	26989											
AVPR2	554	broad.mit.edu	37	chrX	153172115	153172115	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggacgcaccccacccaGcctgggtccccaagatgagt	8	4	12	17	2	0	2	0	1	0	1	1	3	1	3	7	3	1	1	7	3	1	0			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chrX:153172115G>C	ENST00000358927.2	+	4	1258	c.1049G>C	c.(1048-1050)aGc>aCc	p.S350T	AVPR2_ENST00000337474.5_Missense_Mutation_p.S350T|AVPR2_ENST00000370049.1_3'UTR			P30518	V2R_HUMAN	arginine vasopressin receptor 2	350					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACCCCACCCAGCCTGGGTCCC	0.607													5	86					0	0	0	0	C	153172115	G	C	153172115	3	2	143	1	0	0	0	0	1	0	0	0	1237	971	34	4	1079	4	AVPR2	23	153172115	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	98847364	153172115	2098445	85	26990											
HCFC1	3054	broad.mit.edu	37	chrX	153218117	153218117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgagggtggtggtgccaGcttgggcctcggccattagc	5	9	16	11	1	0	1	0	1	0	0	1	1	0	1	4	5	3	1	4	5	1	2			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chrX:153218117G>A	ENST00000310441.7	-	19	5756	c.4790C>T	c.(4789-4791)gCt>gTt	p.A1597V	HCFC1_ENST00000354233.3_Missense_Mutation_p.A1528V|HCFC1_ENST00000369984.4_Missense_Mutation_p.A1641V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1597					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGTGCCAGCTTGGGCCTC	0.652													4	61					0	0	0	0	A	153218117	G	A	153218117	3	1	143	1	0	0	0	0	1	0	0	0	7041	971	34	4	1349	4	HCFC1	23	153218117	Missense_Mutation	SNP	G	TCGA-CQ-6219-01A-11D-1912-08	46002	153218117	2052443	86	26991											
RERE	473	broad.mit.edu	37	chr1	8421141	8421142	+	Frame_Shift_Ins	INS	-	-	G																															atgcggtgagggcggccgctINSgggggtgcaaggccggtgcc																										TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:8421141_8421142insG	ENST00000337907.3	-	19	3059_3060	c.2425_2426insC	c.(2425-2427)gcgfs	p.A809fs	RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Frame_Shift_Ins_p.A541fs|RERE_ENST00000476556.1_Frame_Shift_Ins_p.A255fs|RERE_ENST00000400908.2_Frame_Shift_Ins_p.A809fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	809	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		gggCGGCCGCTGGGGGTGCAAG	0.718													2	4	---	---	---	---					G	8421142	-	G	8421141	7	5	144	1	0	1	1	0	0	0	0	0	13313	1580	55	0	2298	0	RERE	1	8421141	Frame_Shift_Ins	INS	-	TCGA-CQ-6220-01A-11D-1912-08		8421141	240829480	1	26992											
CGN	57530	broad.mit.edu	37	chr1	151491340	151491340	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggatttcctgccccctcGcagagcagcacatctgatga	10	8	10	13	1	1	3	0	2	1	1	3	4	2	4	3	1	3	3	3	1	1	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:151491340G>A	ENST00000271636.7	+	2	478	c.345G>A	c.(343-345)tcG>tcA	p.S115S		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	109	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCCCCCTCGCAGAGCAGCA	0.602													6	16					0	0	0	0	A	151491340	G	A	151491340	2	1	144	1	0	0	0	0	0	0	0	1	3332	1074	38	1		1	CGN	1	151491340	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	143070199	151491340	97759281	2	26993											
MEF2D	4209	broad.mit.edu	37	chr1	156450662	156450662	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccgtcgagctcctcgctGgcgcgtcggtacttgtcctc	3	10	12	16	6	0	0	0	0	0	0	6	1	2	0	3	2	3	3	3	2	1	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:156450662G>T	ENST00000348159.4	-	4	840	c.360C>A	c.(358-360)gcC>gcA	p.A120A	MEF2D_ENST00000360595.3_Silent_p.A120A|MEF2D_ENST00000353795.3_Intron|MEF2D_ENST00000368240.2_Silent_p.A120A|MEF2D_ENST00000340875.5_Intron|MEF2D_ENST00000464356.1_Intron	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	120					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTCCTCGCTGGCGCGTCGGT	0.692											OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	55					2.75727e-19	3.40708e-19	1	0	T	156450662	G	T	156450662	2	4	144	1	0	0	0	0	0	0	0	1	9527	1335	47	4		4	MEF2D	1	156450662	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	4959322	156450662	92799959	3	26994											
SPTA1	6708	broad.mit.edu	37	chr1	158607998	158607998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccgctggagagcaaatCttcagccaatgtattcaggt	11	10	10	10	1	3	1	2	0	1	1	4	2	4	1	2	2	2	3	2	2	3	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:158607998C>A	ENST00000368148.3	-	36	5194	c.5014G>T	c.(5014-5016)Gat>Tat	p.D1672Y	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1672Y	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1672					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D1672H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGAGCAAATCTTCAGCCAAT	0.418													15	24					3.41278e-10	4.16402e-10	1	0	A	158607998	C	A	158607998	3	1	144	1	0	0	0	0	1	0	0	0	15206	913	32	2	2313	2	SPTA1	1	158607998	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	2157336	158607998	90642623	4	26995											
ITLN1	55600	broad.mit.edu	37	chr1	160853237	160853237	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatgcactaggacattcGtctttgatttccttgcagct	9	14	7	11	1	1	1	0	1	1	0	3	2	2	2	2	1	3	3	2	1	2	5			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:160853237G>A	ENST00000326245.3	-	3	253	c.138C>T	c.(136-138)gaC>gaT	p.D46D		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	46	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TAGGACATTCGTCTTTGATTT	0.423													21	35					0	0	0	0	A	160853237	G	A	160853237	2	1	144	1	0	0	0	0	0	0	0	1	7963	1136	40	1		1	ITLN1	1	160853237	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	2245239	160853237	88397384	5	26996											
PRRX1	5396	broad.mit.edu	37	chr1	170695426	170695426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatgctagccaataaaaaCgcttccctcctcaaatccta	13	9	4	15	1	1	0	1	0	0	0	4	0	4	0	5	0	3	2	5	0	7	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:170695426C>T	ENST00000239461.6	+	3	796	c.483C>T	c.(481-483)aaC>aaT	p.N161N	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Silent_p.N161N|PRRX1_ENST00000367760.3_Silent_p.N161N	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	161						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAATAAAAACGCTTCCCTCC	0.537													16	27					0	0	0	0	T	170695426	C	T	170695426	2	4	144	1	0	0	0	0	0	0	0	1	12691	535	19	1		1	PRRX1	1	170695426	Silent	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	9842189	170695426	78555195	6	26997											
KIF21B	23046	broad.mit.edu	37	chr1	200959778	200959778	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgatgtcaatgatccgtcGctccagggactgccacttga	9	9	11	12	3	1	2	1	2	0	0	4	5	3	3	3	1	1	1	3	1	1	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:200959778G>A	ENST00000332129.2	-	19	3077	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	KIF21B_ENST00000360529.5_Nonsense_Mutation_p.R921*|KIF21B_ENST00000461742.2_Nonsense_Mutation_p.R921*|KIF21B_ENST00000422435.2_Nonsense_Mutation_p.R921*	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	921					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R921*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATGATCCGTCGCTCCAGGGAC	0.562													6	41					0	0	0	0	A	200959778	G	A	200959778	4	1	144	1	0	0	0	0	0	1	0	0	8340	1095	38	1	2177	1	KIF21B	1	200959778	Nonsense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	30264352	200959778	48290843	7	26998											
ARV1	64801	broad.mit.edu	37	chr1	231131561	231131561	+	Missense_Mutation	SNP	G	G	A																															ctgtgggtagaacggcccatGacggcaaaaaaaaagcccaa																										TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:231131561G>A	ENST00000310256.2	+	4	561	c.504G>A	c.(502-504)atG>atA	p.M168I	ARV1_ENST00000366658.2_Missense_Mutation_p.M128I|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	168					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		AACGGCCCATGACGGCAAAAA	0.383													8	37					0	0	0	0	A	231131561	G	A	231131561	3	1	144	1	0	0	0	0	1	0	0	0	1006	1290	45	2	518	2	ARV1	1	231131561	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	30171783	231131561	18119060	8	26999	217	2									
ARV1	64801	broad.mit.edu	37	chr1	231131562	231131562	+	Missense_Mutation	SNP	A	A	C																															tgtgggtagaacggcccatgAcggcaaaaaaaaagcccaac																										TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:231131562A>C	ENST00000310256.2	+	4	562	c.505A>C	c.(505-507)Acg>Ccg	p.T169P	ARV1_ENST00000366658.2_Missense_Mutation_p.T129P|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	169					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		ACGGCCCATGACGGCAAAAAA	0.383													8	37					0	0	0	0	C	231131562	A	C	231131562	3	2	144	1	0	0	0	0	1	0	0	0	1006	275	10	5	519	5	ARV1	1	231131562	Missense_Mutation	SNP	A	TCGA-CQ-6220-01A-11D-1912-08	1	231131562	18119059	9	27000	217	2									
ALK	238	broad.mit.edu	37	chr2	29474101	29474101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtggggccatggggccCgctggccccacatgtggtga	4	7	18	12	1	0	1	0	1	0	0	0	1	0	1	4	7	0	1	4	7	0	0			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:29474101C>T	ENST00000389048.3	-	12	2980	c.2074G>A	c.(2074-2076)Ggg>Agg	p.G692R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	692					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCATGGGGCCCGCTGGCCCCA	0.647			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	24					0	0	0	0	T	29474101	C	T	29474101	3	4	144	1	0	0	0	0	1	0	0	0	525	652	23	1	2860	1	ALK	2	29474101	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08		29474101	213725272	10	27001											
RNF103	7844	broad.mit.edu	37	chr2	86832193	86832193	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatatatgccaatatctgtCatataactcttgttgtccca	11	17	4	9	0	3	0	1	0	2	0	4	0	4	0	2	0	2	1	2	0	7	8			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:86832193C>G	ENST00000237455.4	-	4	1799	c.831G>C	c.(829-831)atG>atC	p.M277I	RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	277					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CAATATCTGTCATATAACTCT	0.363													5	30					0	0	0	0	G	86832193	C	G	86832193	3	3	144	1	0	0	0	0	1	0	0	0	13508	826	29	2	1230	2	RNF103	2	86832193	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	57358092	86832193	156367180	11	27002											
KYNU	8942	broad.mit.edu	37	chr2	143643039	143643039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtggctctccacctagatGaggaagataagctgaggcac	11	7	14	9	0	1	4	0	2	1	2	2	5	1	5	2	4	1	3	2	4	3	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:143643039G>A	ENST00000264170.4	+	2	361	c.103G>A	c.(103-105)Gag>Aag	p.E35K	KYNU_ENST00000410015.2_Missense_Mutation_p.E35K|KYNU_ENST00000409512.1_Missense_Mutation_p.E35K|KYNU_ENST00000375773.2_Missense_Mutation_p.E35K	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	35					anthranilate metabolic process|NAD biosynthetic 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)	CCACCTAGATGAGGAAGATAA	0.488													12	35					0	0	0	0	A	143643039	G	A	143643039	3	1	144	1	0	0	0	0	1	0	0	0	8640	1291	45	2	105	2	KYNU	2	143643039	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	56810846	143643039	99556334	12	27003											
NEB	4703	broad.mit.edu	37	chr2	152512971	152512971	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttttcataattgtacttgTatttatactgtgaagaaaat	13	19	5	4	0	1	2	1	1	0	1	1	2	1	2	0	0	2	2	0	0	8	10			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:152512971T>C	ENST00000427231.2	-	49	6393	c.6191A>G	c.(6190-6192)tAc>tGc	p.Y2064C	NEB_ENST00000603639.1_Missense_Mutation_p.Y2064C|NEB_ENST00000604864.1_Missense_Mutation_p.Y2064C|NEB_ENST00000409198.1_Missense_Mutation_p.Y2064C|NEB_ENST00000172853.10_Missense_Mutation_p.Y2064C|NEB_ENST00000397345.3_Missense_Mutation_p.Y2064C	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2064					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTGTACTTGTATTTATACTG	0.333													27	60					0	0	0	0	C	152512971	T	C	152512971	3	2	144	1	0	0	0	0	1	0	0	0	10372	1638	57	5	20031	5	NEB	2	152512971	Missense_Mutation	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	8869932	152512971	90686402	13	27004											
LRP2	4036	broad.mit.edu	37	chr2	170009349	170009349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattccatctggctgcattaCgtatttcagtttcaggtcaa	9	16	7	9	1	4	0	3	0	1	0	5	0	5	0	1	2	2	4	1	2	4	6	rs150382715	byFrequency	TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:170009349C>A	ENST00000263816.3	-	67	12706	c.12421G>T	c.(12421-12423)Gta>Tta	p.V4141L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4141					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGCTGCATTACGTATTTCAGT	0.468													62	185					1.41401e-22	1.75845e-22	1	0	A	170009349	C	A	170009349	3	1	144	1	0	0	0	0	1	0	0	0	9020	536	19	3	1598	3	LRP2	2	170009349	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	17496378	170009349	73190024	14	27005											
TTN	7273	broad.mit.edu	37	chr2	179426874	179426874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgaccatcttttctccaGttcacagtagcttgaggtct	7	15	8	11	0	5	2	1	2	4	0	6	2	5	2	2	1	1	3	2	1	1	5			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:179426874G>T	ENST00000589042.1	-	326	84209	c.83985C>A	c.(83983-83985)aaC>aaA	p.N27995K	TTN_ENST00000359218.5_Missense_Mutation_p.N19055K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N18930K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N26354K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N25427K|TTN_ENST00000342175.6_Missense_Mutation_p.N19122K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26354	Fibronectin type-III 104.						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)			CTTTTCTCCAGTTCACAGTAG	0.383													8	15					5.18039e-06	6.16562e-06	1	0	T	179426874	G	T	179426874	3	4	144	1	0	0	0	0	1	0	0	0	16831	1020	36	4	24142	4	TTN	2	179426874	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	9417525	179426874	63772499	15	27006											
CASP8	841	broad.mit.edu	37	chr2	202131421	202131421	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgctcttccgaattaataGactggatttgctgattacct	9	15	8	9	1	1	2	0	1	1	1	2	4	2	3	2	1	3	3	2	1	4	5			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:202131421G>C	ENST00000358485.4	+	2	585	c.389G>C	c.(388-390)aGa>aCa	p.R130T	CASP8_ENST00000264274.9_Missense_Mutation_p.R71T|CASP8_ENST00000264275.5_Missense_Mutation_p.R71T|CASP8_ENST00000432109.2_Missense_Mutation_p.R71T|CASP8_ENST00000392258.3_Missense_Mutation_p.R71T|CASP8_ENST00000323492.7_Missense_Mutation_p.R71T|CASP8_ENST00000392259.2_Missense_Mutation_p.R71T|CASP8_ENST00000392266.3_Missense_Mutation_p.R71T	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	71	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CGAATTAATAGACTGGATTTG	0.458										HNSCC(4;0.00038)			18	37					0	0	0	0	C	202131421	G	C	202131421	3	2	144	1	0	0	0	0	1	0	0	0	2702	942	33	2	395	2	CASP8	2	202131421	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	22704547	202131421	41067952	16	27007											
ABCB6	10058	broad.mit.edu	37	chr2	220077120	220077120	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caaccctacctgtgaaatgtCctgcccatctattcggatgc	9	11	7	14	1	1	1	0	1	1	0	3	2	2	2	4	1	4	0	4	1	4	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:220077120C>G	ENST00000265316.3	-	14	2273	c.1957G>C	c.(1957-1959)Gac>Cac	p.D653H	ABCB6_ENST00000439002.2_Missense_Mutation_p.D607H	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	653	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGAAATGTCCTGCCCATCT	0.552													8	54					0	0	0	0	G	220077120	C	G	220077120	3	3	144	1	0	0	0	0	1	0	0	0	45	855	30	2	595	2	ABCB6	2	220077120	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	17945699	220077120	23122253	17	27008											
EPHA4	2043	broad.mit.edu	37	chr2	222347096	222347096	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttggtggtcacagtgaCagaaactgattggtctgggt	8	13	15	5	0	2	3	1	2	1	1	2	3	2	3	0	5	1	1	0	5	1	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:222347096C>G	ENST00000281821.2	-	5	1335	c.1294G>C	c.(1294-1296)Gtc>Ctc	p.V432L	EPHA4_ENST00000392071.4_Missense_Mutation_p.V381L|EPHA4_ENST00000409938.1_Missense_Mutation_p.V432L|EPHA4_ENST00000409854.1_Missense_Mutation_p.V432L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	432	Fibronectin type-III 1.					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)		GTCACAGTGACAGAAACTGAT	0.378													14	140					0	0	0	0	G	222347096	C	G	222347096	3	3	144	1	0	0	0	0	1	0	0	0	5207	478	17	4	1718	4	EPHA4	2	222347096	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	2269976	222347096	20852277	18	27009											
UGT1A3	54659	broad.mit.edu	37	chr2	234637859	234637859	+	Silent	SNP	A	A	G																															cagccctgggctgagagtggAaaggtgttggtggtgcccat																										TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:234637859A>G	ENST00000482026.1	+	1	106	c.87A>G	c.(85-87)ggA>ggG	p.G29G	UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTGAGAGTGGAAAGGTGTTGG	0.632													7	50					0	0	0	0	G	234637859	A	G	234637859	2	3	144	1	0	0	0	0	0	0	0	1	17042	233	9	5		5	UGT1A3	2	234637859	Silent	SNP	A	TCGA-CQ-6220-01A-11D-1912-08	12290763	234637859	8561514	19	27010	218	2									
UGT1A3	54659	broad.mit.edu	37	chr2	234637866	234637866	+	Silent	SNP	T	T	C																															gggctgagagtggaaaggtgTtggtggtgcccattgatggc																										TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:234637866T>C	ENST00000482026.1	+	1	113	c.94T>C	c.(94-96)Ttg>Ctg	p.L32L	UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGGAAAGGTGTTGGTGGTGCC	0.637													6	55					0	0	0	0	C	234637866	T	C	234637866	2	2	144	1	0	0	0	0	0	0	0	1	17042	1722	60	5		5	UGT1A3	2	234637866	Silent	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	7	234637866	8561507	20	27011	218	2									
GRM7	2917	broad.mit.edu	37	chr3	7188209	7188209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctatgacttcttctctcGcgtggtgccacccgattcct	4	13	9	15	4	2	1	0	1	2	0	5	2	3	1	3	1	1	1	3	1	1	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr3:7188209G>A	ENST00000486284.1	+	2	864	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GRM7_ENST00000389336.4_Missense_Mutation_p.R197H|GRM7_ENST00000403881.1_Missense_Mutation_p.R197H|GRM7_ENST00000402647.2_Missense_Mutation_p.R197H|GRM7_ENST00000357716.4_Missense_Mutation_p.R197H	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	197					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			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)	TTCTTCTCTCGCGTGGTGCCA	0.522													16	57					0	0	0	0	A	7188209	G	A	7188209	3	1	144	1	0	0	0	0	1	0	0	0	6852	1087	38	1	596	1	GRM7	3	7188209	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08		7188209	190834221	21	27012											
TRANK1	9881	broad.mit.edu	37	chr3	36872599	36872599	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttgctgcctctggtggtgTtctagatggatatgctgctc	5	15	12	9	0	2	1	0	0	2	1	3	2	2	2	1	3	4	4	1	3	2	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr3:36872599T>C	ENST00000301807.6	-	21	8590	c.6693A>G	c.(6691-6693)gaA>gaG	p.E2231E	TRANK1_ENST00000428977.2_Silent_p.E2231E|TRANK1_ENST00000429976.2_Silent_p.E2781E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2781					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCTGGTGGTGTTCTAGATGGA	0.552													38	65					0	0	0	0	C	36872599	T	C	36872599	2	2	144	1	0	0	0	0	0	0	0	1	16549	1722	60	5		5	TRANK1	3	36872599	Silent	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	29684390	36872599	161149831	22	27013											
COL6A6	131873	broad.mit.edu	37	chr3	130285812	130285812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaatacaaacacaggcGcagcactgaatttcacactg	14	7	10	10	1	1	1	1	1	0	0	1	2	1	2	0	2	3	2	0	2	4	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr3:130285812G>A	ENST00000358511.6	+	4	1580	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	COL6A6_ENST00000453409.2_Missense_Mutation_p.A517T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	517	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen		p.A517>?(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAACACAGGCGCAGCACTGAA	0.448													27	93					0	0	0	0	A	130285812	G	A	130285812	3	1	144	1	0	0	0	0	1	0	0	0	3733	1087	38	1	1563	1	COL6A6	3	130285812	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	93413213	130285812	67736618	23	27014											
GC	2638	broad.mit.edu	37	chr4	72623827	72623827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgttagtaatatcttcagCtagtggcaaaacatcctcca	13	12	7	9	0	2	0	1	0	1	0	4	1	4	0	2	1	2	4	2	1	6	5			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr4:72623827C>T	ENST00000273951.8	-	7	1106	c.763G>A	c.(763-765)Gct>Act	p.A255T	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.A255T|GC_ENST00000504199.1_Missense_Mutation_p.A274T	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	255	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	ATATCTTCAGCTAGTGGCAAA	0.373													13	62					0	0	0	0	T	72623827	C	T	72623827	3	4	144	1	0	0	0	0	1	0	0	0	6331	797	28	4	685	4	GC	4	72623827	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08		72623827	118530449	24	27015											
DCHS2	54798	broad.mit.edu	37	chr4	155158175	155158175	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaattcaggggcataattGttcatatcttctattcctat	10	17	7	7	0	4	1	2	1	2	0	5	1	5	1	1	2	0	2	1	2	5	9	rs141912971		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr4:155158175G>A	ENST00000357232.3	-	25	6263	c.6264C>T	c.(6262-6264)aaC>aaT	p.N2088N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2088	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGGCATAATTGTTCATATCTT	0.398													18	67					0	0	0	0	A	155158175	G	A	155158175	2	1	144	1	0	0	0	0	0	0	0	1	4320	1368	48	4		4	DCHS2	4	155158175	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	82534348	155158175	35996101	25	27016											
CTSO	1519	broad.mit.edu	37	chr4	156860670	156860670	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccactgcccccaccacgctGaaggcccagcatcctccaca	9	5	6	21	1	0	1	0	1	0	0	3	1	3	1	7	1	2	2	7	1	1	0			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr4:156860670G>A	ENST00000433477.3	-	4	474	c.405C>T	c.(403-405)ttC>ttT	p.F135F		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	135					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCACCACGCTGAAGGCCCAGC	0.433													15	87					0	0	0	0	A	156860670	G	A	156860670	2	1	144	1	0	0	0	0	0	0	0	1	4072	1281	45	2		2	CTSO	4	156860670	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	1702495	156860670	34293606	26	27017											
RICTOR	253260	broad.mit.edu	37	chr5	38950723	38950723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttatcctttatgggtccaGatcggtcataaaatgttggc	9	16	9	7	1	1	1	1	0	0	1	4	1	3	1	2	3	0	1	2	3	4	6			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:38950723G>C	ENST00000357387.3	-	31	3257	c.3227C>G	c.(3226-3228)tCt>tGt	p.S1076C	RICTOR_ENST00000296782.5_Missense_Mutation_p.S1076C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1076					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TATGGGTCCAGATCGGTCATA	0.368													16	93					0	0	0	0	C	38950723	G	C	38950723	3	2	144	1	0	0	0	0	1	0	0	0	13441	942	33	2	1931	2	RICTOR	5	38950723	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08		38950723	141964537	27	27018											
ITGA2	3673	broad.mit.edu	37	chr5	52366018	52366018	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttatttaaagaaaacaaTgaaaggtgcctgcagaagaa	18	8	11	4	0	0	4	0	1	0	3	0	4	0	4	1	2	3	2	1	2	9	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:52366018T>C	ENST00000296585.5	+	17	2306	c.2163T>C	c.(2161-2163)aaT>aaC	p.N721N		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	721					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AAGAAAACAATGAAAGGTGCC	0.383													3	83					0	0	0	0	C	52366018	T	C	52366018	2	2	144	1	0	0	0	0	0	0	0	1	7928	1461	51	5		5	ITGA2	5	52366018	Silent	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	13415295	52366018	128549242	28	27019											
HTR1A	3350	broad.mit.edu	37	chr5	63257091	63257091	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagatgagcgcagcggcGcgccggggcgtcctcttgtt	5	7	17	12	7	1	2	0	1	1	1	2	3	2	2	2	3	3	2	2	3	0	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:63257091G>A	ENST00000323865.3	-	1	689	c.456C>T	c.(454-456)cgC>cgT	p.R152R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	152				RAA -> PR (in Ref. 1; AAA36440/CAA31908).	behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.R152R(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCGCAGCGGCGCGCCGGGGCG	0.652													22	84					0	0	0	0	A	63257091	G	A	63257091	2	1	144	1	0	0	0	0	0	0	0	1	7489	1074	38	1		1	HTR1A	5	63257091	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	10891073	63257091	117658169	29	27020											
THBS4	7060	broad.mit.edu	37	chr5	79375854	79375854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctggaaggacaaggtgTcctaccgctggttcctacag	8	9	14	10	1	0	0	0	0	0	0	2	2	2	2	3	5	2	3	3	5	4	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:79375854T>C	ENST00000350881.2	+	20	2828	c.2638T>C	c.(2638-2640)Tcc>Ccc	p.S880P	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.S789P|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000504720.1_3'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	880	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGACAAGGTGTCCTACCGCTG	0.587													4	26					0	0	0	0	C	79375854	T	C	79375854	3	2	144	1	0	0	0	0	1	0	0	0	15950	1667	58	5	2716	5	THBS4	5	79375854	Missense_Mutation	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	16118763	79375854	101539406	30	27021											
PCDHGC4	56098	broad.mit.edu	37	chr5	140865546	140865546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcaatgcctcagaccCggacctgggtcccagtggta	8	7	11	15	1	2	1	2	0	0	1	3	2	3	2	5	3	2	2	5	3	2	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:140865546C>T	ENST00000306593.1	+	1	806	c.806C>T	c.(805-807)cCg>cTg	p.P269L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCAGACCCGGACCTGGGT	0.542													9	80					0	0	0	0	T	140865546	C	T	140865546	3	4	144	1	0	0	0	0	1	0	0	0	11641	652	23	1	808	1	PCDHGC4	5	140865546	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	61489692	140865546	40049714	31	27022											
CAMK2A	815	broad.mit.edu	37	chr5	149636340	149636340	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactcacctggcatccgcCtcactgtaatactcccgggc	8	8	8	17	2	2	0	2	0	0	0	4	1	4	0	4	2	1	2	4	2	2	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:149636340C>T	ENST00000348628.6	-	5	992	c.327G>A	c.(325-327)gaG>gaA	p.E109E	CAMK2A_ENST00000398376.3_Silent_p.E109E	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	109	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCATCCGCCTCACTGTAAT	0.602													16	34					0	0	0	0	T	149636340	C	T	149636340	2	4	144	1	0	0	0	0	0	0	0	1	2624	680	24	4		4	CAMK2A	5	149636340	Silent	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	8770794	149636340	31278920	32	27023											
RNF145	153830	broad.mit.edu	37	chr5	158630649	158630649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttttttttttctttttttTtttcttggagaagacctaaa	7	25	5	4	0	2	2	0	0	2	2	2	3	2	2	1	1	0	1	1	1	3	12			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:158630649T>C	ENST00000274542.2	-	2	87	c.61A>G	c.(61-63)Aaa>Gaa	p.K21E	RNF145_ENST00000424310.2_5'UTR|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000518802.1_Missense_Mutation_p.K23E|RNF145_ENST00000520638.1_Missense_Mutation_p.K7E|RNF145_ENST00000521606.2_Missense_Mutation_p.K10E	NM_144726.2	NP_653327.1	Q96MT1	RN145_HUMAN	ring finger protein 145	0						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttctttttttttttcttGGAG	0.363													12	36					0	0	0	0	C	158630649	T	C	158630649	3	2	144	1	0	0	0	0	1	0	0	0	13532	1850	64	5	2054	5	RNF145	5	158630649	Missense_Mutation	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	8994309	158630649	22284611	33	27024											
GABRA1	2554	broad.mit.edu	37	chr5	161277887	161277887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagcacactgactggaaGaaggtggggacactttttta	11	11	12	7	0	1	3	0	2	1	1	1	5	1	5	0	4	1	1	0	4	3	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:161277887G>T	ENST00000428797.2	+	3	426	c.71G>T	c.(70-72)aGa>aTa	p.R24I	GABRA1_ENST00000023897.6_Missense_Mutation_p.R24I|GABRA1_ENST00000420560.1_Missense_Mutation_p.R24I|GABRA1_ENST00000393943.4_Missense_Mutation_p.R24I|GABRA1_ENST00000444819.1_Missense_Mutation_p.R24I|GABRA1_ENST00000437025.2_Missense_Mutation_p.R24I	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	24					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTGACTGGAAGAAGGTGGGGA	0.413													14	72					1.37285e-15	1.68566e-15	1	0	T	161277887	G	T	161277887	3	4	144	1	0	0	0	0	1	0	0	0	6208	942	33	2	73	2	GABRA1	5	161277887	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	2647238	161277887	19637373	34	27025											
HIST1H3I	8354	broad.mit.edu	37	chr6	27839968	27839968	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggccacggtgccggggcgGtagcggtggggcttcttgac	4	7	20	10	4	1	1	0	1	1	0	1	1	1	1	2	8	2	2	2	8	1	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:27839968G>A	ENST00000328488.2	-	1	131	c.126C>T	c.(124-126)taC>taT	p.Y42Y		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	42					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGCCGGGGCGGTAGCGGTGGG	0.682													35	78					0	0	0	0	A	27839968	G	A	27839968	2	1	144	1	0	0	0	0	0	0	0	1	7213	1256	44	4		4	HIST1H3I	6	27839968	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08		27839968	143275099	35	27026											
GABRR2	2570	broad.mit.edu	37	chr6	89978925	89978925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcatccttccagtaaTgccgcaggtacagggtcata	9	10	9	13	1	2	0	2	0	1	0	5	0	4	0	4	2	2	3	4	2	3	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:89978925T>C	ENST00000402938.3	-	4	450	c.317A>G	c.(316-318)cAt>cGt	p.H106R	GABRR2_ENST00000602399.1_Missense_Mutation_p.H131R			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	131					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		CTTCCAGTAATGCCGCAGGTA	0.522													39	113					0	0	0	0	C	89978925	T	C	89978925	3	2	144	1	0	0	0	0	1	0	0	0	6225	1464	51	5	1104	5	GABRR2	6	89978925	Missense_Mutation	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	62138957	89978925	81136142	36	27027											
FAM26D	221301	broad.mit.edu	37	chr6	116879126	116879126	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaatgagagagaactctttGaacaagcagcagagcagcac	17	5	11	8	0	1	5	0	2	1	4	1	7	1	5	0	0	6	4	0	0	4	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:116879126G>C	ENST00000368596.3	+	2	741	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	FAM26D_ENST00000368597.2_Missense_Mutation_p.E47Q|FAM26D_ENST00000416171.2_Missense_Mutation_p.E89Q|FAM26D_ENST00000405399.1_Missense_Mutation_p.E90Q			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	233						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		AGAACTCTTTGAACAAGCAGC	0.517													22	86					0	0	0	0	C	116879126	G	C	116879126	3	2	144	1	0	0	0	0	1	0	0	0	5596	1291	45	2	141	2	FAM26D	6	116879126	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	26900201	116879126	54235941	37	27028											
CENPW	387103	broad.mit.edu	37	chr6	126661543	126661543	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagaaaagtggtgacttaTtggtgagattccatcccttc	10	13	11	7	0	0	3	0	2	0	2	3	5	2	3	2	3	0	0	2	3	3	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:126661543T>C	ENST00000368328.4	+	1	224	c.124T>C	c.(124-126)Ttg>Ctg	p.L42L	CENPW_ENST00000368325.1_Silent_p.L42L|CENPW_ENST00000368326.1_Silent_p.L42L			Q5EE01	CENPW_HUMAN	centromere protein W	42						chromosome, centromeric region|nucleus	DNA binding			kidney(2)|large_intestine(1)|lung(3)	6						TGGTGACTTATTGGTGAGATT	0.512													16	78					0	0	0	0	C	126661543	T	C	126661543	2	2	144	1	0	0	0	0	0	0	0	1	3273	1490	52	5		5	CENPW	6	126661543	Silent	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	9782417	126661543	44453524	38	27029											
SF3B5	83443	broad.mit.edu	37	chr6	144416375	144416375	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggtggtaaggcagagtctCagttctcctcgggcttgtcg	5	11	15	10	3	2	1	1	0	2	1	6	1	2	1	1	4	0	4	1	4	1	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:144416375C>G	ENST00000367569.2	-	1	379	c.260G>C	c.(259-261)tGa>tCa	p.*87S		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	0					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		GGCAGAGTCTCAGTTCTCCTC	0.567													21	133					0	0	0	0	G	144416375	C	G	144416375	4	3	144	1	0	0	0	0	0	0	0	0	14241	837	29	2	4	2	SF3B5	6	144416375	Nonstop_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	17754832	144416375	26698692	39	27030											
ETV1	2115	broad.mit.edu	37	chr7	13950933	13950933	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagtggcagctaggcacttCtgaaagaggaaacaatattg	14	8	13	6	0	1	2	0	1	1	1	1	4	1	4	0	4	2	3	0	4	5	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:13950933C>G	ENST00000343495.5	-	9	1487		c.e9-1		ETV1_ENST00000405358.4_Splice_Site|ETV1_ENST00000399357.3_Splice_Site|ETV1_ENST00000405192.2_Intron|ETV1_ENST00000242066.5_Splice_Site|ETV1_ENST00000403527.1_Splice_Site|ETV1_ENST00000420159.2_Splice_Site|ETV1_ENST00000430479.1_Splice_Site|ETV1_ENST00000403685.1_Splice_Site|ETV1_ENST00000405218.2_Splice_Site|ETV1_ENST00000476720.2_Splice_Site			P50549	ETV1_HUMAN	ets variant 1						transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTAGGCACTTCTGAAAGAGGA	0.463			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								7	26					0	0	0	0	G	13950933	C	G	13950933	5	3	144	1	0	0	0	0	0	0	1	0	5315	927	32	2	651	2	ETV1	7	13950933	Splice_Site	SNP	C	TCGA-CQ-6220-01A-11D-1912-08		13950933	145187730	40	27031											
RNF148	378925	broad.mit.edu	37	chr7	122342351	122342351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttgcttatcatcaccgCgactatattttccgtcccct	7	14	6	14	3	2	0	2	0	0	0	4	1	4	0	4	1	1	2	4	1	3	6			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:122342351C>T	ENST00000434824.1	-	1	670	c.454G>A	c.(454-456)Gcg>Acg	p.A152T	CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.A54T|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	152	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATCATCACCGCGACTATATTT	0.463													92	223					0	0	0	0	T	122342351	C	T	122342351	3	4	144	1	0	0	0	0	1	0	0	0	13534	768	27	1	467	1	RNF148	7	122342351	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	108391418	122342351	36796312	41	27032											
EXOC4	60412	broad.mit.edu	37	chr7	133682292	133682292	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacacggatctccccccaGtgtcagagcagatcatgcag	11	6	10	14	2	3	2	2	0	1	2	4	4	3	3	3	1	3	2	3	1	1	0			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:133682292G>C	ENST00000253861.4	+	15	2283	c.2254G>C	c.(2254-2256)Gtg>Ctg	p.V752L	EXOC4_ENST00000539845.1_Missense_Mutation_p.V651L|EXOC4_ENST00000545148.1_Missense_Mutation_p.V362L|EXOC4_ENST00000541309.1_Missense_Mutation_p.V40L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	752					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TCTCCCCCCAGTGTCAGAGCA	0.463													14	36					0	0	0	0	C	133682292	G	C	133682292	3	2	144	1	0	0	0	0	1	0	0	0	5343	1029	36	4	2321	4	EXOC4	7	133682292	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	11339941	133682292	25456371	42	27033											
OR2A2	442361	broad.mit.edu	37	chr7	143807496	143807496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggagcaggagaaaatgctgtCcctgtttcacagtgtcttta	10	12	11	8	0	2	1	1	0	1	1	3	3	3	2	1	2	2	3	1	2	3	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:143807496C>G	ENST00000408979.2	+	1	890	c.821C>G	c.(820-822)tCc>tGc	p.S274C		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S274Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AAAATGCTGTCCCTGTTTCAC	0.512													64	153					0	0	0	0	G	143807496	C	G	143807496	3	3	144	1	0	0	0	0	1	0	0	0	11048	855	30	2	823	2	OR2A2	7	143807496	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	10125204	143807496	15331167	43	27034											
XRCC2	7516	broad.mit.edu	37	chr7	152346214	152346214	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgggtgctactactgcagTacaccaaaaaaaatcttccc	14	9	7	11	0	1	0	0	0	1	0	2	0	2	0	2	1	5	3	2	1	7	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:152346214T>A	ENST00000359321.1	-	3	441	c.356A>T	c.(355-357)tAc>tTc	p.Y119F	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	119					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		ACTACTGCAGTACACCAAAAA	0.398								Homologous recombination					5	53					0	0	0	0	A	152346214	T	A	152346214	3	1	144	1	0	0	0	0	1	0	0	0	17549	1638	57	5	490	5	XRCC2	7	152346214	Missense_Mutation	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	8538718	152346214	6792449	44	27035											
NCAPG2	54892	broad.mit.edu	37	chr7	158476042	158476042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcggaaggtgtatcccgtGgaacatgaagtcctggatgc	9	9	13	10	2	0	1	0	1	0	0	3	4	2	4	3	4	2	1	3	4	4	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:158476042G>A	ENST00000409339.3	-	9	987	c.874C>T	c.(874-876)Cac>Tac	p.H292Y	NCAPG2_ENST00000409423.1_Missense_Mutation_p.H292Y|NCAPG2_ENST00000275830.10_Missense_Mutation_p.H84Y|NCAPG2_ENST00000449727.2_Missense_Mutation_p.H292Y|NCAPG2_ENST00000356309.3_Missense_Mutation_p.H292Y			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	292					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TGTATCCCGTGGAACATGAAG	0.438													18	117					0	0	0	0	A	158476042	G	A	158476042	3	1	144	1	0	0	0	0	1	0	0	0	10278	1348	47	4	2637	4	NCAPG2	7	158476042	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	6129828	158476042	662621	45	27036											
TUSC3	7991	broad.mit.edu	37	chr8	15517104	15517104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttgacctccaaagaattgGatttgcagctgagcaactag	12	12	9	8	0	0	3	0	2	0	1	1	4	1	4	2	1	4	3	2	1	4	5			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:15517104G>A	ENST00000382020.4	+	4	723	c.515G>A	c.(514-516)gGa>gAa	p.G172E	TUSC3_ENST00000509380.1_Missense_Mutation_p.G172E|TUSC3_ENST00000503731.1_Missense_Mutation_p.G172E|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000506802.1_Missense_Mutation_p.G172E	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	172					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CAAAGAATTGGATTTGCAGCT	0.393													12	77					0	0	0	0	A	15517104	G	A	15517104	3	1	144	1	0	0	0	0	1	0	0	0	16874	1174	41	2	529	2	TUSC3	8	15517104	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08		15517104	130846918	46	27037											
ANK1	286	broad.mit.edu	37	chr8	41581097	41581097	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccgatccagcagcagccGcaccatgatcacgttgcccc	8	6	8	19	3	1	1	1	1	0	0	3	2	3	1	7	0	4	4	7	0	0	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:41581097G>T	ENST00000396942.1	-	8	849	c.766C>A	c.(766-768)Cgg>Agg	p.R256R	ANK1_ENST00000379758.2_Silent_p.R256R|ANK1_ENST00000396945.1_Silent_p.R256R|ANK1_ENST00000352337.4_Silent_p.R256R|ANK1_ENST00000265709.8_Silent_p.R289R|ANK1_ENST00000289734.7_Silent_p.R256R|ANK1_ENST00000347528.4_Silent_p.R256R			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	256	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGCAGCAGCCGCACCATGATC	0.647													24	65					5.49717e-05	6.46334e-05	1	0	T	41581097	G	T	41581097	2	4	144	1	0	0	0	0	0	0	0	1	620	1086	38	3		3	ANK1	8	41581097	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	26063993	41581097	104782925	47	27038											
MATN2	4147	broad.mit.edu	37	chr8	99040003	99040003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcagccattgtgttcaccGacggacgggctcaggatgac	9	7	14	11	3	2	1	2	1	0	0	2	5	2	3	2	3	2	3	2	3	0	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:99040003G>A	ENST00000254898.5	+	14	2533	c.2302G>A	c.(2302-2304)Gac>Aac	p.D768N	MATN2_ENST00000520016.1_Missense_Mutation_p.D768N|MATN2_ENST00000524308.1_Missense_Mutation_p.D727N|MATN2_ENST00000521689.1_Missense_Mutation_p.D768N|MATN2_ENST00000522025.2_Missense_Mutation_p.D484N|RPL30_ENST00000518164.1_Intron	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	768	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGTGTTCACCGACGGACGGGC	0.562													9	60					0	0	0	0	A	99040003	G	A	99040003	3	1	144	1	0	0	0	0	1	0	0	0	9403	1058	37	1	2352	1	MATN2	8	99040003	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	57458906	99040003	47324019	48	27039											
CSMD3	114788	broad.mit.edu	37	chr8	113259313	113259313	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggtgcgtgttgtagacccTtggagaaggtgtcctttttt	6	15	13	7	1	0	2	0	0	0	2	1	3	1	2	2	3	1	2	2	3	2	6			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:113259313T>A	ENST00000297405.5	-	64	10402	c.10158A>T	c.(10156-10158)caA>caT	p.Q3386H	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3346H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3217H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3316H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3386	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGTAGACCCTTGGAGAAGGT	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	38					0	0	0	0	A	113259313	T	A	113259313	3	1	144	1	0	0	0	0	1	0	0	0	3978	1606	56	5	997	5	CSMD3	8	113259313	Missense_Mutation	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	14219310	113259313	33104709	49	27040											
CSMD3	114788	broad.mit.edu	37	chr8	113585877	113585877	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtcgttttatcttttcCatcataaatctgcaaaatat	13	17	4	7	1	3	1	1	1	2	0	5	1	4	1	1	0	1	2	1	0	6	6			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:113585877C>G	ENST00000297405.5	-	24	4139	c.3895G>C	c.(3895-3897)Gga>Cga	p.G1299R	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1259R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1195R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1299R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1299	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTATCTTTTCCATCATAAATC	0.308										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	44					0	0	0	0	G	113585877	C	G	113585877	3	3	144	1	0	0	0	0	1	0	0	0	3978	603	21	4	7420	4	CSMD3	8	113585877	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	326564	113585877	32778145	50	27041											
EXT1	2131	broad.mit.edu	37	chr8	119122780	119122780	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaaattgtgcacatacTgaggtgacaactggtctctg	11	12	9	9	0	2	2	1	2	2	0	4	2	2	2	0	2	3	1	0	2	3	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:119122780T>C	ENST00000378204.2	-	1	1312	c.506A>G	c.(505-507)cAg>cGg	p.Q169R		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	169					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTGCACATACTGAGGTGACAA	0.488			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				27	177					0	0	0	0	C	119122780	T	C	119122780	3	2	144	1	0	0	0	0	1	0	0	0	5361	1580	55	5	1778	5	EXT1	8	119122780	Missense_Mutation	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	5536903	119122780	27241242	51	27042											
ENPP2	5168	broad.mit.edu	37	chr8	120629779	120629779	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaagccatccacggagaaGatgattaatggagggcgaac	14	5	14	8	3	0	3	0	1	0	2	1	7	1	5	2	4	2	0	2	4	4	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:120629779G>C	ENST00000427067.2	-	6	672	c.492C>G	c.(490-492)atC>atG	p.I164M	ENPP2_ENST00000259486.6_Missense_Mutation_p.I168M|ENPP2_ENST00000522826.1_Missense_Mutation_p.I168M|ENPP2_ENST00000075322.6_Missense_Mutation_p.I168M			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	168					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCACGGAGAAGATGATTAATG	0.373													8	18					0	0	0	0	C	120629779	G	C	120629779	3	2	144	1	0	0	0	0	1	0	0	0	5168	932	33	2	2406	2	ENPP2	8	120629779	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	1506999	120629779	25734243	52	27043											
FAM135B	51059	broad.mit.edu	37	chr8	139164784	139164784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggctccctcagggtagaaCttagtggatcacagggctca	10	8	13	10	0	3	1	3	0	0	1	4	2	4	2	1	4	1	3	1	4	3	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:139164784C>T	ENST00000395297.1	-	13	2104	c.1934G>A	c.(1933-1935)aGt>aAt	p.S645N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	645										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGGTAGAACTTAGTGGATC	0.488										HNSCC(54;0.14)			14	66					0	0	0	0	T	139164784	C	T	139164784	3	4	144	1	0	0	0	0	1	0	0	0	5490	565	20	4	2318	4	FAM135B	8	139164784	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	18535005	139164784	7199238	53	27044											
KCNK9	51305	broad.mit.edu	37	chr8	140630759	140630759	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagactgcaggtccgggacGtccgccttgtacctgggccg	6	7	14	14	4	0	1	0	0	0	1	2	2	2	2	5	3	2	2	5	3	1	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:140630759G>A	ENST00000520439.1	-	2	930	c.867C>T	c.(865-867)gaC>gaT	p.D289D	KCNK9_ENST00000303015.1_Silent_p.D289D			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	289						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGTCCGGGACGTCCGCCTTGT	0.657													12	75					0	0	0	0	A	140630759	G	A	140630759	2	1	144	1	0	0	0	0	0	0	0	1	8125	1136	40	1		1	KCNK9	8	140630759	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	1465975	140630759	5733263	54	27045											
CDKN2A	1029	broad.mit.edu	37	chr9	21974703	21974703	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctccgaccgtaactatTcggtgcgttgggcagcgccc	5	8	13	15	6	0	0	0	0	0	0	2	1	1	0	4	3	3	3	4	3	2	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr9:21974703T>G	ENST00000304494.5	-	1	394	c.124A>C	c.(124-126)Aat>Cat	p.N42H	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N42H|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.N42H|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.N42H	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	42					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.N42Y(1)|p.0(1)|p.V28_V51del(1)|p.N42D(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGTAACTATTCGGTGCGTTG	0.692		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			76	55					0	0	0	0	G	21974703	T	G	21974703	3	3	144	1	0	0	0	0	1	0	0	0	3190	1783	62	5	559	5	CDKN2A	9	21974703	Missense_Mutation	SNP	T	TCGA-CQ-6220-01A-11D-1912-08		21974703	119238728	55	27046											
TXNDC8	255220	broad.mit.edu	37	chr9	113096542	113096542	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggaccacaccgtttcgaaGaaaattgaaccactgcgagt	14	7	10	10	3	0	2	0	1	0	1	1	5	0	3	3	1	2	1	3	1	4	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr9:113096542G>C	ENST00000374507.4	-	2	133	c.83C>G	c.(82-84)tCt>tGt	p.S28C	TXNDC8_ENST00000374510.4_Missense_Mutation_p.S28C|TXNDC8_ENST00000423740.2_Missense_Mutation_p.S28C|TXNDC8_ENST00000374511.3_Missense_Mutation_p.S28C			Q6A555	TXND8_HUMAN	thioredoxin domain containing 8 (spermatozoa)	28	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCGTTTCGAAGAAAATTGAAC	0.363													7	30					0	0	0	0	C	113096542	G	C	113096542	3	2	144	1	0	0	0	0	1	0	0	0	16897	942	33	2	284	2	TXNDC8	9	113096542	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	91121839	113096542	28116889	56	27047											
NOTCH1	4851	broad.mit.edu	37	chr9	139412593	139412594	+	Frame_Shift_Ins	INS	-	-	GA																															tgtgctggcacctacccagcINSgagcactcatccacgtcctg																										TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr9:139412593_139412594insGA	ENST00000277541.6	-	7	1325_1326	c.1250_1251insTC	c.(1249-1251)tctfs	p.S417fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	417	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCTACCCAGCGAGCACTCATC	0.663			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			7	7	---	---	---	---					GA	139412594	-	GA	139412593	7	5	144	1	0	1	1	0	0	0	0	0	10617	755	27	0	6528	0	NOTCH1	9	139412593	Frame_Shift_Ins	INS	-	TCGA-CQ-6220-01A-11D-1912-08	26316051	139412593	1800838	57	27048											
DNAJC1	64215	broad.mit.edu	37	chr10	22209789	22209789	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccactgtgagaataatgaAcaagagtaatgccagctcag	16	7	9	9	0	1	3	1	2	0	2	1	4	1	3	2	0	3	2	2	0	5	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:22209789A>G	ENST00000376980.3	-	4	765	c.475T>C	c.(475-477)Ttc>Ctc	p.F159L	DNAJC1_ENST00000376946.1_3'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	159					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AGAATAATGAACAAGAGTAAT	0.408													3	85					0	0	0	0	G	22209789	A	G	22209789	3	3	144	1	0	0	0	0	1	0	0	0	4664	43	2	5	1225	5	DNAJC1	10	22209789	Missense_Mutation	SNP	A	TCGA-CQ-6220-01A-11D-1912-08		22209789	113324958	58	27049											
PPA1	5464	broad.mit.edu	37	chr10	71974336	71974336	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcattgtgccctgggtcttCccaagtctaaaaatataaga	13	12	7	9	0	3	1	1	0	2	1	4	1	4	1	2	1	1	0	2	1	6	5			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:71974336C>A	ENST00000373232.2	-	5	403	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	PPA1_ENST00000373230.4_Nonsense_Mutation_p.E102*	NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	102					diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						CCTGGGTCTTCCCAAGTCTAA	0.363													10	43					2.17888e-05	2.57745e-05	1	0	A	71974336	C	A	71974336	4	1	144	1	0	0	0	0	0	1	0	0	12357	864	30	2	593	2	PPA1	10	71974336	Nonsense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	49764547	71974336	63560411	59	27050											
SFTPA1	653509	broad.mit.edu	37	chr10	81373513	81373513	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagtctgcagggctccAtaatgacagtaggagagaag	12	7	12	10	0	2	2	1	1	1	1	3	4	3	3	2	2	1	3	2	2	3	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:81373513A>G	ENST00000398636.3	+	6	529	c.391A>G	c.(391-393)Ata>Gta	p.I131V	SFTPA1_ENST00000428376.2_Missense_Mutation_p.I131V|SFTPA1_ENST00000372308.3_Missense_Mutation_p.I131V|SFTPA1_ENST00000372313.5_Missense_Mutation_p.I72V|SFTPA1_ENST00000419470.2_Missense_Mutation_p.I146V	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	131					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GCAGGGCTCCATAATGACAGT	0.572													24	146					0	0	0	0	G	81373513	A	G	81373513	3	3	144	1	0	0	0	0	1	0	0	0	14276	217	8	5	454	5	SFTPA1	10	81373513	Missense_Mutation	SNP	A	TCGA-CQ-6220-01A-11D-1912-08	9399177	81373513	54161234	60	27051											
ACTA2	59	broad.mit.edu	37	chr10	90707026	90707026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcccataccttttccatgtCgtcccagttggtgatgatgc	6	14	8	13	1	0	2	0	2	0	0	4	2	3	2	4	1	2	1	4	1	1	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:90707026C>T	ENST00000458208.1	-	3	721	c.247G>A	c.(247-249)Gac>Aac	p.D83N	ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Missense_Mutation_p.D83N|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	83					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TTTTCCATGTCGTCCCAGTTG	0.502													28	141					0	0	0	0	T	90707026	C	T	90707026	3	4	144	1	0	0	0	0	1	0	0	0	192	884	31	1	914	1	ACTA2	10	90707026	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	9333513	90707026	44827721	61	27052											
PDE6C	5146	broad.mit.edu	37	chr10	95415576	95415576	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaacagttattcatttgttCgaggtcgcaataatagcaac	14	12	8	7	2	1	0	1	0	0	0	3	2	1	0	0	1	3	4	0	1	6	6			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:95415576C>T	ENST00000371447.3	+	16	2133	c.1995C>T	c.(1993-1995)ttC>ttT	p.F665F		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	665					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTCATTTGTTCGAGGTCGCAA	0.348													52	113					0	0	0	0	T	95415576	C	T	95415576	2	4	144	1	0	0	0	0	0	0	0	1	11718	883	31	1		1	PDE6C	10	95415576	Silent	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	4708550	95415576	40119171	62	27053											
RRP12	23223	broad.mit.edu	37	chr10	99130758	99130758	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaggtggctctgcacgaaGagggccccggggccctgagg	6	5	17	13	2	1	2	0	1	1	1	2	3	2	2	4	6	1	2	4	6	1	0			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:99130758G>C	ENST00000370992.4	-	21	2535	c.2424C>G	c.(2422-2424)ctC>ctG	p.L808L	RRP12_ENST00000315563.6_Silent_p.L708L|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Silent_p.L747L|RRP12_ENST00000536831.1_Silent_p.L526L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	808						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCTGCACGAAGAGGGCCCCGG	0.667													8	30					0	0	0	0	C	99130758	G	C	99130758	2	2	144	1	0	0	0	0	0	0	0	1	13771	929	33	2		2	RRP12	10	99130758	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	3715182	99130758	36403989	63	27054											
SORCS3	22986	broad.mit.edu	37	chr10	106960922	106960922	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaaaatattcaagaaacgTaagccaggagctcagtgtgc	16	7	11	7	1	2	1	2	0	0	1	2	3	2	3	1	2	4	2	1	2	6	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:106960922T>A	ENST00000369701.3	+	16	2399	c.2172T>A	c.(2170-2172)cgT>cgA	p.R724R	SORCS3_ENST00000369699.4_Silent_p.R10R	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	724						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAAGAAACGTAAGCCAGGAG	0.468													10	71					0	0	0	0	A	106960922	T	A	106960922	2	1	144	1	0	0	0	0	0	0	0	1	15020	1625	57	5		5	SORCS3	10	106960922	Silent	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	7830164	106960922	28573825	64	27055											
VWA2	340706	broad.mit.edu	37	chr10	116045996	116045996	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcggcaggcggcagagcgTggcttcgggagcgccaccag	6	5	18	12	5	0	1	0	0	0	1	1	2	0	2	2	5	3	3	2	5	0	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:116045996T>C	ENST00000603594.1	+	11	1617	c.1296T>C	c.(1294-1296)cgT>cgC	p.R432R	VWA2_ENST00000392982.3_Silent_p.R432R	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	432	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CGGCAGAGCGTGGCTTCGGGA	0.662													13	90					0	0	0	0	C	116045996	T	C	116045996	2	2	144	1	0	0	0	0	0	0	0	1	17335	1683	59	5		5	VWA2	10	116045996	Silent	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	9085074	116045996	19488751	65	27056											
OR51I2	390064	broad.mit.edu	37	chr11	5475596	5475596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaaccctctcatttataGcgccaagacaaaggaaatcc	14	8	6	13	1	2	1	2	0	1	1	4	2	3	2	3	1	2	1	3	1	6	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:5475596G>C	ENST00000341449.2	+	1	959	c.878G>C	c.(877-879)aGc>aCc	p.S293T	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCATTTATAGCGCCAAGACA	0.443													8	151					0	0	0	0	C	5475596	G	C	5475596	3	2	144	1	0	0	0	0	1	0	0	0	11172	971	34	4	880	4	OR51I2	11	5475596	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08		5475596	129530920	66	27057											
CNGA4	1262	broad.mit.edu	37	chr11	6261383	6261383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttcttcttggacctggCttccctgatgcccacagatg	6	13	10	12	0	2	2	0	1	2	1	3	4	3	3	3	2	1	2	3	2	0	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:6261383C>T	ENST00000379936.2	+	4	474	c.359C>T	c.(358-360)gCt>gTt	p.A120V	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	120					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGACCTGGCTTCCCTGATG	0.627													56	141					0	0	0	0	T	6261383	C	T	6261383	3	4	144	1	0	0	0	0	1	0	0	0	3629	797	28	4	373	4	CNGA4	11	6261383	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	785787	6261383	128745133	67	27058											
OR10A6	390093	broad.mit.edu	37	chr11	7949672	7949672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaacactgctggggtttCacaagatatatggttaattt	11	16	8	6	0	2	1	1	0	1	1	2	1	2	1	0	3	2	3	0	3	5	7	rs145835770		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:7949672C>T	ENST00000309838.2	-	1	537	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E180K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTGGGGTTTCACAAGATATA	0.363													6	33					0	0	0	0	T	7949672	C	T	7949672	3	4	144	1	0	0	0	0	1	0	0	0	10965	835	29	2	409	2	OR10A6	11	7949672	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	1688289	7949672	127056844	68	27059											
OSBP	5007	broad.mit.edu	37	chr11	59376031	59376031	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgatcttttcattgctctCagcaggcaacttcagggact	8	15	8	10	0	4	1	3	1	2	0	5	2	4	2	0	2	3	3	0	2	1	5			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:59376031C>G	ENST00000263847.1	-	3	1227	c.748G>C	c.(748-750)Gag>Cag	p.E250Q		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	250					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCATTGCTCTCAGCAGGCAAC	0.488													29	65					0	0	0	0	G	59376031	C	G	59376031	3	3	144	1	0	0	0	0	1	0	0	0	11344	835	29	2	1723	2	OSBP	11	59376031	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	51426359	59376031	75630485	69	27060											
MS4A5	64232	broad.mit.edu	37	chr11	60197290	60197290	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attatttgctagaaaaatgaAaatcttaggggtaagtaaga	18	12	9	2	0	1	3	0	1	1	2	1	3	1	3	0	2	1	3	0	2	9	6			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:60197290A>T	ENST00000300190.2	+	1	229	c.143A>T	c.(142-144)aAa>aTa	p.K48I	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	48						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						AGAAAAATGAAAATCTTAGGG	0.418													4	73					0	0	0	0	T	60197290	A	T	60197290	3	4	144	1	0	0	0	0	1	0	0	0	9933	14	1	5	145	5	MS4A5	11	60197290	Missense_Mutation	SNP	A	TCGA-CQ-6220-01A-11D-1912-08	821259	60197290	74809226	70	27061											
AHNAK	79026	broad.mit.edu	37	chr11	62286423	62286423	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggcctttcaggtcaccctCtatttttggcactgagatgt	6	14	11	10	0	3	1	2	1	1	1	3	2	3	1	2	4	0	1	2	4	1	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:62286423C>G	ENST00000378024.4	-	5	15740	c.15466G>C	c.(15466-15468)Gag>Cag	p.E5156Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5156					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTCACCCTCTATTTTTGGC	0.507													11	68					0	0	0	0	G	62286423	C	G	62286423	3	3	144	1	0	0	0	0	1	0	0	0	414	922	32	2	2326	2	AHNAK	11	62286423	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	2089133	62286423	72720093	71	27062											
ANO1	55107	broad.mit.edu	37	chr11	69933944	69933944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggcgcaaggtggactacatCctggtgtaccatcacaagag	11	7	12	11	2	1	1	1	0	0	1	2	2	2	2	2	4	2	2	2	4	4	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:69933944C>T	ENST00000355303.5	+	2	500	c.195C>T	c.(193-195)atC>atT	p.I65I	ANO1_ENST00000398543.2_5'UTR|ANO1_ENST00000538023.1_Silent_p.I65I|ANO1_ENST00000530676.1_5'UTR|ANO1_ENST00000316296.5_Silent_p.I37I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	65					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TGGACTACATCCTGGTGTACC	0.617													6	27					0	0	0	0	T	69933944	C	T	69933944	2	4	144	1	0	0	0	0	0	0	0	1	694	845	30	2		2	ANO1	11	69933944	Silent	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	7647521	69933944	65072572	72	27063											
FCHSD2	9873	broad.mit.edu	37	chr11	72554523	72554523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttccatatctccatcttCaatcacttctaacacctcat	10	15	1	15	0	7	0	3	0	4	0	9	0	8	0	3	0	1	0	3	0	3	5			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:72554523C>T	ENST00000409314.1	-	16	1738	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	FCHSD2_ENST00000409263.1_5'UTR|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000409418.4_Missense_Mutation_p.E500K|FCHSD2_ENST00000409853.1_Missense_Mutation_p.E444K|FCHSD2_ENST00000458644.2_Missense_Mutation_p.E364K|FCHSD2_ENST00000311172.7_Missense_Mutation_p.E444K			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	500	SH3 1.						protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TCTCCATCTTCAATCACTTCT	0.403													19	98					0	0	0	0	T	72554523	C	T	72554523	3	4	144	1	0	0	0	0	1	0	0	0	5835	835	29	2	748	2	FCHSD2	11	72554523	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	2620579	72554523	62451993	73	27064											
FAM181B	220382	broad.mit.edu	37	chr11	82444469	82444469	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaggccgctgcagcgcttGatctgcttctgcaggtactt	6	12	12	11	2	2	2	0	2	2	0	2	2	2	2	1	2	5	6	1	2	1	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:82444469G>C	ENST00000329203.3	-	1	437	c.303C>G	c.(301-303)atC>atG	p.I101M		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	101										large_intestine(1)|lung(2)|prostate(1)	4						TGCAGCGCTTGATCTGCTTCT	0.701													4	10					0	0	0	0	C	82444469	G	C	82444469	3	2	144	1	0	0	0	0	1	0	0	0	5551	1280	45	2	981	2	FAM181B	11	82444469	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	9889946	82444469	52562047	74	27065											
FAT3	120114	broad.mit.edu	37	chr11	92085885	92085885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttaaaaataaagttgatCtcttttcagttcaccccacg	13	14	4	10	1	3	1	2	1	1	0	4	1	3	1	2	0	0	2	2	0	5	7			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:92085885C>T	ENST00000298047.6	+	1	624	c.607C>T	c.(607-609)Ctc>Ttc	p.L203F	FAT3_ENST00000409404.2_Missense_Mutation_p.L203F|FAT3_ENST00000541502.1_Missense_Mutation_p.L203F|FAT3_ENST00000525166.1_Missense_Mutation_p.L53F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	203	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAAAGTTGATCTCTTTTCAGT	0.408										TCGA Ovarian(4;0.039)			14	76					0	0	0	0	T	92085885	C	T	92085885	3	4	144	1	0	0	0	0	1	0	0	0	5736	913	32	2	609	2	FAT3	11	92085885	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	9641416	92085885	42920631	75	27066											
OAF	220323	broad.mit.edu	37	chr11	120082137	120082137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgaggagagcctgcaggcGgacagcgacgcggacagcat	11	2	16	12	5	0	1	0	0	0	1	0	6	0	3	2	4	4	2	2	4	0	0			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:120082137G>A	ENST00000328965.4	+	1	663	c.150G>A	c.(148-150)gcG>gcA	p.A50A	OAF_ENST00000531220.1_5'UTR	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	50										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GCCTGCAGGCGGACAGCGACG	0.726													3	13					0	0	0	0	A	120082137	G	A	120082137	2	1	144	1	0	0	0	0	0	0	0	1	10869	1103	39	1		1	OAF	11	120082137	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	27996252	120082137	14924379	76	27067											
ARHGAP32	9743	broad.mit.edu	37	chr11	128839602	128839602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagaagcggtcctctccctCgggactgatggccttggctg	6	10	13	12	2	1	2	0	1	1	1	4	3	2	3	3	4	1	1	3	4	2	2	rs138669502		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:128839602C>T	ENST00000310343.9	-	22	5463	c.5464G>A	c.(5464-5466)Gag>Aag	p.E1822K	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E1473K|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E1473K	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1822	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCCTCTCCCTCGGGACTGATG	0.577													17	69					0	0	0	0	T	128839602	C	T	128839602	3	4	144	1	0	0	0	0	1	0	0	0	883	893	31	1	803	1	ARHGAP32	11	128839602	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	8757465	128839602	6166914	77	27068											
CACNA2D4	93589	broad.mit.edu	37	chr12	1993939	1993939	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgggagggtcaccttacAgtctggccagttatacttct	7	12	11	11	1	3	0	1	0	2	0	3	1	3	1	3	3	2	1	3	3	3	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:1993939A>T	ENST00000382722.5	-	11	1629	c.1267T>A	c.(1267-1269)Tgt>Agt	p.C423S	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.C339S|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.C359S|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.C359S|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.C423S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.C423S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	423	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTCACCTTACAGTCTGGCCAG	0.582													7	20					0	0	0	0	T	1993939	A	T	1993939	3	4	144	1	0	0	0	0	1	0	0	0	2576	188	7	5	2258	5	CACNA2D4	12	1993939	Missense_Mutation	SNP	A	TCGA-CQ-6220-01A-11D-1912-08		1993939	131857956	78	27069											
LTBR	4055	broad.mit.edu	37	chr12	6494414	6494414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgggcctcgaggagattgCcccctgcacaagcaaacgga	11	5	13	12	2	0	1	0	0	0	1	1	5	0	2	3	3	4	2	3	3	2	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:6494414C>T	ENST00000228918.4	+	4	667	c.341C>T	c.(340-342)gCc>gTc	p.A114V	LTBR_ENST00000543190.1_Missense_Mutation_p.A7V|LTBR_ENST00000541102.1_Missense_Mutation_p.A7V|LTBR_ENST00000539925.1_Missense_Mutation_p.A95V	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	114					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GAGGAGATTGCCCCCTGCACA	0.657													4	98					0	0	0	0	T	6494414	C	T	6494414	3	4	144	1	0	0	0	0	1	0	0	0	9141	739	26	4	355	4	LTBR	12	6494414	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	4500475	6494414	127357481	79	27070											
SLC38A1	81539	broad.mit.edu	37	chr12	46591510	46591510	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaagagacatacccaaattCtttgagttcctttatctcca	12	13	5	11	0	2	2	0	1	2	1	4	3	3	2	3	0	1	2	3	0	4	6			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:46591510C>G	ENST00000398637.5	-	16	2049	c.1355G>C	c.(1354-1356)aGa>aCa	p.R452T	SLC38A1_ENST00000546893.1_Missense_Mutation_p.R452T|SLC38A1_ENST00000439706.1_Missense_Mutation_p.R452T|SLC38A1_ENST00000549049.1_Missense_Mutation_p.R452T|SLC38A1_ENST00000552197.1_Missense_Mutation_p.R452T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	452					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TACCCAAATTCTTTGAGTTCC	0.328													19	60					0	0	0	0	G	46591510	C	G	46591510	3	3	144	1	0	0	0	0	1	0	0	0	14689	913	32	2	116	2	SLC38A1	12	46591510	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	40097096	46591510	87260385	80	27071											
SLC11A2	4891	broad.mit.edu	37	chr12	51382165	51382165	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctttagagatgcttacCgtatgcccacagtccaggaa	11	9	10	11	1	0	1	0	0	0	1	1	3	1	2	4	2	3	2	4	2	4	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:51382165C>T	ENST00000262051.7	-	16	1716	c.1629_splice	c.e16+1	p.T543_splice	SLC11A2_ENST00000541174.2_Silent_p.T543T|SLC11A2_ENST00000547688.1_Silent_p.T572T|SLC11A2_ENST00000262052.5_Silent_p.T543T|SLC11A2_ENST00000545993.2_Silent_p.T539T|SLC11A2_ENST00000546743.1_Silent_p.T464T|SLC11A2_ENST00000547198.1_Splice_Site_p.T543_splice|SLC11A2_ENST00000394904.3_Silent_p.T572T	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	543					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						AGATGCTTACCGTATGCCCAC	0.493													5	75					0	0	0	0	T	51382165	C	T	51382165	5	4	144	1	0	0	0	0	0	0	1	0	14469	666	23	1	142	1	SLC11A2	12	51382165	Splice_Site	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	4790655	51382165	82469730	81	27072											
DNAJC14	85406	broad.mit.edu	37	chr12	56221128	56221128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagggtttagctcatcctCaggaaccccagccatggtca	11	8	10	12	0	3	0	3	0	0	0	4	2	4	1	4	3	3	2	4	3	3	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:56221128C>T	ENST00000357606.3	-	3	1604	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	DNAJC14_ENST00000317269.3_Missense_Mutation_p.E439K|DNAJC14_ENST00000317287.5_Missense_Mutation_p.E439K|RP11-762I7.5_ENST00000546837.1_Silent_p.*68*			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	439					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGCTCATCCTCAGGAACCCCA	0.527													12	172					0	0	0	0	T	56221128	C	T	56221128	3	4	144	1	0	0	0	0	1	0	0	0	4669	835	29	2	817	2	DNAJC14	12	56221128	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	4838963	56221128	77630767	82	27073											
CS	1431	broad.mit.edu	37	chr12	56677625	56677625	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccaatcccttcatgcctCtcatgccaccatacatctaa	12	10	3	16	0	3	1	2	0	2	1	5	1	4	1	5	0	3	0	5	0	3	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:56677625C>G	ENST00000548567.1	-	5	490	c.20G>C	c.(19-21)aGa>aCa	p.R7T	CS_ENST00000542324.2_Missense_Mutation_p.R60T|CS_ENST00000351328.3_Missense_Mutation_p.R73T			O75390	CISY_HUMAN	citrate synthase	73					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CTTCATGCCTCTCATGCCACC	0.373													5	25					0	0	0	0	G	56677625	C	G	56677625	3	3	144	1	0	0	0	0	1	0	0	0	3954	913	32	2	1214	2	CS	12	56677625	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	456497	56677625	77174270	83	27074											
OS9	10956	broad.mit.edu	37	chr12	58113926	58113926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccgggtcaccaagctcCgtctcggaggccctaatcag	7	7	13	14	3	3	0	2	0	1	0	6	1	5	1	4	4	1	1	4	4	2	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:58113926C>T	ENST00000315970.7	+	13	1686	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C	OS9_ENST00000413095.2_Intron|OS9_ENST00000552285.1_Intron|OS9_ENST00000435406.2_Intron|OS9_ENST00000389142.5_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000439210.2_Intron|OS9_ENST00000257966.8_Intron|OS9_ENST00000551035.1_Intron|OS9_ENST00000389146.6_Missense_Mutation_p.R534C	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	549					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CACCAAGCTCCGTCTCGGAGG	0.572													29	103					0	0	0	0	T	58113926	C	T	58113926	3	4	144	1	0	0	0	0	1	0	0	0	11343	652	23	1	1695	1	OS9	12	58113926	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	1436301	58113926	75737969	84	27075											
C12orf56	115749	broad.mit.edu	37	chr12	64746823	64746823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgaactcaaaaattccGggtaatcatcaatctggaaa	15	9	8	9	2	4	0	3	0	1	0	5	2	5	1	1	3	1	1	1	3	6	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:64746823G>A	ENST00000543942.2	-	2	892	c.266C>T	c.(265-267)cCg>cTg	p.P89L	C12orf56_ENST00000333722.5_Missense_Mutation_p.P89L|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	89								p.P89Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CAAAAATTCCGGGTAATCATC	0.343													6	65					0	0	0	0	A	64746823	G	A	64746823	3	1	144	1	0	0	0	0	1	0	0	0	1712	1116	39	1	1650	1	C12orf56	12	64746823	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	6632897	64746823	69105072	85	27076											
CPSF6	11052	broad.mit.edu	37	chr12	69652600	69652600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctacggcccccctcctggcCcaccacctccacaacaggga	8	4	8	21	1	0	0	0	0	0	0	2	1	2	1	8	3	2	1	8	3	2	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:69652600C>T	ENST00000435070.2	+	6	1035	c.925C>T	c.(925-927)Cca>Tca	p.P309S	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.P236S|CPSF6_ENST00000266679.8_Missense_Mutation_p.P346S	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	309	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCCTCCTGGCCCACCACCTCC	0.632													20	90					0	0	0	0	T	69652600	C	T	69652600	3	4	144	1	0	0	0	0	1	0	0	0	3859	623	22	4	947	4	CPSF6	12	69652600	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	4905777	69652600	64199295	86	27077											
RILPL2	196383	broad.mit.edu	37	chr12	123915096	123915096	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcaccaccaggagctgCgacttgagtttgttgcgttc	6	12	11	12	2	0	1	0	1	0	0	2	3	1	2	3	1	4	5	3	1	0	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:123915096C>T	ENST00000280571.8	-	2	746	c.450G>A	c.(448-450)tcG>tcA	p.S150S		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	150	RILP-like.					cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CCAGGAGCTGCGACTTGAGTT	0.582													9	155					0	0	0	0	T	123915096	C	T	123915096	2	4	144	1	0	0	0	0	0	0	0	1	13445	755	27	1		1	RILPL2	12	123915096	Silent	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	54262496	123915096	9936799	87	27078											
EP400	57634	broad.mit.edu	37	chr12	132514446	132514446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggctggtgcagttcgactCaggtatgcggcagttggggg	6	9	19	7	2	1	0	1	0	0	0	2	2	1	0	0	6	2	6	0	6	1	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:132514446C>T	ENST00000333577.4	+	29	5799	c.5690C>T	c.(5689-5691)tCa>tTa	p.S1897L	EP400_ENST00000389561.2_Missense_Mutation_p.S1861L|EP400_ENST00000330386.6_Missense_Mutation_p.S1780L|EP400_ENST00000389562.2_Missense_Mutation_p.S1860L|EP400_ENST00000332482.4_Missense_Mutation_p.S1824L			Q96L91	EP400_HUMAN	E1A binding protein p400	1897					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGTTCGACTCAGGTATGCGG	0.647													9	36					0	0	0	0	T	132514446	C	T	132514446	3	4	144	1	0	0	0	0	1	0	0	0	5187	838	29	2	5685	2	EP400	12	132514446	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	8599350	132514446	1337449	88	27079											
ANKLE2	23141	broad.mit.edu	37	chr12	133306539	133306539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttgcaaattcagtttatCaaactcaacagtcaaatccg	15	13	4	9	1	4	0	4	0	0	0	5	0	5	0	1	0	3	2	1	0	5	5			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:133306539C>G	ENST00000539605.1	-	10	8707	c.2023G>C	c.(2023-2025)Gat>Cat	p.D675H	ANKLE2_ENST00000357997.5_Missense_Mutation_p.D737H|ANKLE2_ENST00000542657.1_Missense_Mutation_p.D92H|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542282.1_Missense_Mutation_p.D92H			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	737						cytoplasm|integral to membrane|nuclear envelope		p.D737H(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TTCAGTTTATCAAACTCAACA	0.473													9	124					0	0	0	0	G	133306539	C	G	133306539	3	3	144	1	0	0	0	0	1	0	0	0	633	826	29	2	619	2	ANKLE2	12	133306539	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	792093	133306539	545356	89	27080											
COL4A2	1284	broad.mit.edu	37	chr13	111111187	111111187	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttccgggactgccaggacCcaagggcttcgcaggcatca	8	7	12	14	2	2	0	1	0	1	0	4	2	3	2	3	4	1	3	3	4	1	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr13:111111187C>A	ENST00000360467.5	+	22	1808	c.1502C>A	c.(1501-1503)cCc>cAc	p.P501H	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	501	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGCCAGGACCCAAGGGCTTC	0.637													13	89					7.93312e-07	9.50016e-07	1	0	A	111111187	C	A	111111187	3	1	144	1	0	0	0	0	1	0	0	0	3720	623	22	4	1584	4	COL4A2	13	111111187	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08		111111187	4058691	90	27081											
MYH6	4624	broad.mit.edu	37	chr14	23858093	23858093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcgagctcctcagtccGctgaatggcgtccgtctcat	5	12	9	15	4	3	1	2	1	2	0	8	2	6	1	3	1	1	2	3	1	1	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:23858093G>A	ENST00000405093.3	-	29	4220	c.4150C>T	c.(4150-4152)Cgg>Tgg	p.R1384W	MYH6_ENST00000356287.3_Missense_Mutation_p.R1384W	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1384					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTCAGTCCGCTGAATGGCG	0.622													45	88					0	0	0	0	A	23858093	G	A	23858093	3	1	144	1	0	0	0	0	1	0	0	0	10108	1086	38	1	1713	1	MYH6	14	23858093	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08		23858093	83491447	91	27082											
NUMB	8650	broad.mit.edu	37	chr14	73743879	73743879	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgaggcctggggctGctgagcccggacgctcttag	6	7	16	12	2	1	2	0	2	1	0	1	3	1	3	2	4	4	5	2	4	1	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:73743879G>A	ENST00000556772.1	-	7	3218	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	NUMB_ENST00000356296.4_Nonsense_Mutation_p.Q407*|NUMB_ENST00000355058.3_Nonsense_Mutation_p.Q455*|NUMB_ENST00000544991.3_Nonsense_Mutation_p.Q260*|NUMB_ENST00000359560.3_Nonsense_Mutation_p.Q444*|NUMB_ENST00000535282.1_Nonsense_Mutation_p.Q444*|NUMB_ENST00000555394.1_Nonsense_Mutation_p.Q407*|NUMB_ENST00000454166.4_Nonsense_Mutation_p.Q309*|NUMB_ENST00000559312.1_Nonsense_Mutation_p.Q260*|NUMB_ENST00000557597.1_Nonsense_Mutation_p.Q444*|NUMB_ENST00000555738.2_Nonsense_Mutation_p.Q298*|NUMB_ENST00000555238.1_Nonsense_Mutation_p.Q455*|NUMB_ENST00000560335.1_Nonsense_Mutation_p.Q309*|NUMB_ENST00000554521.2_Nonsense_Mutation_p.Q249*|NUMB_ENST00000554546.1_Nonsense_Mutation_p.Q396*			P49757	NUMB_HUMAN	numb homolog (Drosophila)	455					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GCCTGGGGCTGCTGAGCCCGG	0.607													15	39					0	0	0	0	A	73743879	G	A	73743879	4	1	144	1	0	0	0	0	0	1	0	0	10822	1328	46	4	596	4	NUMB	14	73743879	Nonsense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	49885786	73743879	33605661	92	27083											
DYNC1H1	1778	broad.mit.edu	37	chr14	102506067	102506067	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaaactgaagggcaccgtGgggtaagagcactcacgccc	12	5	12	12	2	2	2	2	1	0	1	2	2	2	2	2	3	2	3	2	3	3	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:102506067G>T	ENST00000360184.4	+	62	11852	c.11688G>T	c.(11686-11688)gtG>gtT	p.V3896V	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3896					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGGCACCGTGGGGTAAGAGC	0.502													15	84					1.05317e-09	1.27697e-09	1	0	T	102506067	G	T	102506067	2	4	144	1	0	0	0	0	0	0	0	1	4877	1335	47	4		4	DYNC1H1	14	102506067	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	28762188	102506067	4843473	93	27084											
ASPG	374569	broad.mit.edu	37	chr14	104571696	104571696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttcggggggagatgaCgccaccctcggtggaagagc	8	5	17	11	3	0	3	0	1	0	2	2	6	0	5	3	6	1	0	3	6	1	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:104571696C>T	ENST00000551177.1	+	10	1174	c.1082C>T	c.(1081-1083)aCg>aTg	p.T361M	ASPG_ENST00000455920.2_Missense_Mutation_p.T361M|ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000546892.2_Missense_Mutation_p.T361M	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	361					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGGGAGATGACGCCACCCTCG	0.672													5	43					0	0	0	0	T	104571696	C	T	104571696	3	4	144	1	0	0	0	0	1	0	0	0	1056	536	19	1	1120	1	ASPG	14	104571696	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	2065629	104571696	2777844	94	27085											
GABRB3	2562	broad.mit.edu	37	chr15	26825502	26825502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcctcgagaccagacggtGctccacgatggagaactgcg	10	7	12	12	4	0	3	0	0	0	3	3	6	2	3	3	2	3	1	3	2	1	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:26825502G>A	ENST00000541819.2	-	7	916	c.814C>T	c.(814-816)Cac>Tac	p.H272Y	GABRB3_ENST00000299267.4_Missense_Mutation_p.H216Y|GABRB3_ENST00000545868.1_Missense_Mutation_p.H131Y|GABRB3_ENST00000311550.5_Missense_Mutation_p.H216Y|GABRB3_ENST00000400188.3_Missense_Mutation_p.H145Y			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	216					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	ACCAGACGGTGCTCCACGATG	0.567													15	81					0	0	0	0	A	26825502	G	A	26825502	3	1	144	1	0	0	0	0	1	0	0	0	6216	1319	46	4	791	4	GABRB3	15	26825502	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08		26825502	75705890	95	27086											
CTDSPL2	51496	broad.mit.edu	37	chr15	44816367	44816367	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcatgatttgctgcccccaGattaagtacaaagacttgtc	11	12	8	10	0	0	3	0	1	0	2	1	3	0	3	2	0	4	3	2	0	3	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:44816367G>C	ENST00000260327.4	+	13	1959	c.1396G>C	c.(1396-1398)Gat>Cat	p.D466H	CTDSPL2_ENST00000558373.1_Missense_Mutation_p.D394H|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.D466H|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.D394H	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	466							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		GCTGCCCCCAGATTAAGTACA	0.383													3	37					0	0	0	0	C	44816367	G	C	44816367	3	2	144	1	0	0	0	0	1	0	0	0	4038	942	33	2	1442	2	CTDSPL2	15	44816367	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	17990865	44816367	57715025	96	27087											
MYO9A	4649	broad.mit.edu	37	chr15	72190735	72190735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcactgagggcattgtccCgtgaatcaaattttggactg	10	11	12	8	1	1	2	1	2	0	0	2	3	2	3	1	3	0	2	1	3	2	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:72190735C>T	ENST00000356056.5	-	25	4581	c.4109G>A	c.(4108-4110)cGg>cAg	p.R1370Q	MYO9A_ENST00000564571.1_Missense_Mutation_p.R1370Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.R1370Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.R1351Q|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.R990Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1370	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.R1370L(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGCATTGTCCCGTGAATCAAA	0.443													17	96					0	0	0	0	T	72190735	C	T	72190735	3	4	144	1	0	0	0	0	1	0	0	0	10154	652	23	1	3609	1	MYO9A	15	72190735	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	27374368	72190735	30340657	97	27088											
CLCN7	1186	broad.mit.edu	37	chr16	1510884	1510884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtcaatgaagcaggccacGaggcccgtgaggatcccaat	12	6	12	11	2	1	2	1	2	0	0	2	4	2	3	3	3	1	1	3	3	3	0			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:1510884G>A	ENST00000382745.4	-	5	1022	c.417C>T	c.(415-417)ctC>ctT	p.L139L	CLCN7_ENST00000448525.1_Silent_p.L115L|CLCN7_ENST00000262318.8_Silent_p.L115L	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	139						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGCAGGCCACGAGGCCCGTGA	0.642													18	50					0	0	0	0	A	1510884	G	A	1510884	2	1	144	1	0	0	0	0	0	0	0	1	3498	1045	37	1		1	CLCN7	16	1510884	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08		1510884	88843869	98	27089											
CLDN9	9080	broad.mit.edu	37	chr16	3063471	3063471	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaaggtgaccgccttcatCggcaacagcatcgtggtggc	8	8	14	11	3	1	1	1	1	0	0	3	2	1	2	2	5	2	2	2	5	2	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:3063471C>T	ENST00000445369.2	+	1	1015	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	36					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CCGCCTTCATCGGCAACAGCA	0.657													18	81					0	0	0	0	T	3063471	C	T	3063471	2	4	144	1	0	0	0	0	0	0	0	1	3522	874	31	1		1	CLDN9	16	3063471	Silent	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	1552587	3063471	87291282	99	27090											
ABCC1	4363	broad.mit.edu	37	chr16	16184309	16184309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctacttgccgcaggtggaCgtcatcatcgtcatgagtgg	8	10	13	10	3	3	1	3	1	0	0	4	2	3	2	1	3	3	2	1	3	1	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:16184309C>T	ENST00000399408.2	+	19	2683	c.2508C>T	c.(2506-2508)gaC>gaT	p.D836D	ABCC1_ENST00000346370.5_Silent_p.D780D|ABCC1_ENST00000345148.5_Silent_p.D836D|ABCC1_ENST00000349029.5_Silent_p.D721D|ABCC1_ENST00000399410.3_Silent_p.D836D|ABCC1_ENST00000351154.5_Silent_p.D777D			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	836	ABC transporter 1.				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)	CGCAGGTGGACGTCATCATCG	0.602													5	39					0	0	0	0	T	16184309	C	T	16184309	2	4	144	1	0	0	0	0	0	0	0	1	49	535	19	1		1	ABCC1	16	16184309	Silent	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	13120838	16184309	74170444	100	27091											
DNAH3	55567	broad.mit.edu	37	chr16	20999081	20999081	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaagtcccgcaggttaaaGacgtaatgtgacttcgaggg	12	8	14	7	3	0	3	0	1	0	2	2	5	1	3	1	2	0	3	1	2	4	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:20999081G>C	ENST00000261383.3	-	46	6815	c.6816C>G	c.(6814-6816)gtC>gtG	p.V2272V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2272	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCAGGTTAAAGACGTAATGTG	0.483													8	60					0	0	0	0	C	20999081	G	C	20999081	2	2	144	1	0	0	0	0	0	0	0	1	4640	929	33	2		2	DNAH3	16	20999081	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	4814772	20999081	69355672	101	27092											
SPN	6693	broad.mit.edu	37	chr16	29675887	29675887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctgctgtggcgccggCggcagaagcggcggactggg	4	6	19	12	5	0	1	0	0	0	1	1	2	1	2	2	6	3	3	2	6	1	0			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:29675887C>T	ENST00000360121.3	+	2	930	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Missense_Mutation_p.R280W	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	280					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GTGGCGCCGGCGGCAGAAGCG	0.687													6	27					0	0	0	0	T	29675887	C	T	29675887	3	4	144	1	0	0	0	0	1	0	0	0	15163	759	27	1	840	1	SPN	16	29675887	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	8676806	29675887	60678866	102	27093											
TP53	7157	broad.mit.edu	37	chr17	7577100	7577100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctgtgcgccggtctcTcccaggacaggcacaaacac	8	8	9	16	2	2	0	0	0	2	0	5	1	4	1	3	3	2	1	3	3	1	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:7577100T>C	ENST00000420246.2	-	8	970	c.838A>G	c.(838-840)Aga>Gga	p.R280G	TP53_ENST00000269305.4_Missense_Mutation_p.R280G|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280G|TP53_ENST00000359597.4_Missense_Mutation_p.R280G|TP53_ENST00000455263.2_Missense_Mutation_p.R280G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280G(20)|p.0?(8)|p.R280*(8)|p.?(2)|p.G279fs*65(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*65(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCCGGTCTCTCCCAGGACAG	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	13					0	0	0	0	C	7577100	T	C	7577100	3	2	144	1	0	0	0	0	1	0	0	0	16476	1559	54	5	448	5	TP53	17	7577100	Missense_Mutation	SNP	T	TCGA-CQ-6220-01A-11D-1912-08		7577100	73618110	103	27094											
GUCY2D	3000	broad.mit.edu	37	chr17	7916484	7916484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagcgccggggaacgctggCcggcgacgtctttagcttgg	5	7	18	11	6	1	0	0	0	1	0	1	3	1	2	2	6	3	2	2	6	2	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:7916484C>T	ENST00000254854.4	+	11	2327	c.2177C>T	c.(2176-2178)gCc>gTc	p.A726V		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	726	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GGAACGCTGGCCGGCGACGTC	0.657													4	20					0	0	0	0	T	7916484	C	T	7916484	3	4	144	1	0	0	0	0	1	0	0	0	6947	739	26	4	2215	4	GUCY2D	17	7916484	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	339384	7916484	73278726	104	27095											
HAP1	9001	broad.mit.edu	37	chr17	39881315	39881315	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgcaggcgtgaaatcttCcccccgcatgatatccgctg	7	9	9	16	4	1	2	0	2	1	0	4	2	4	2	5	1	0	3	5	1	2	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:39881315C>A	ENST00000393939.2	-	10	1432	c.1423G>T	c.(1423-1425)Gaa>Taa	p.E475*	HAP1_ENST00000341193.5_Nonsense_Mutation_p.E483*|HAP1_ENST00000347901.4_Nonsense_Mutation_p.E500*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Nonsense_Mutation_p.E552*			P54257	HAP1_HUMAN	huntingtin-associated protein 1	528	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GTGAAATCTTCCCCCCGCATG	0.617													43	297					2.62258e-09	3.16013e-09	1	0	A	39881315	C	A	39881315	4	1	144	1	0	0	0	0	0	1	0	0	7003	864	30	2	365	2	HAP1	17	39881315	Nonsense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	31964831	39881315	41313895	105	27096											
GDPD1	284161	broad.mit.edu	37	chr17	57350187	57350187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttgaccacctaactgctcGaggcattcaagtaagtttct	10	13	8	10	1	2	1	1	1	1	0	3	2	2	1	2	1	2	5	2	1	3	5			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:57350187G>A	ENST00000284116.4	+	9	949	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	GDPD1_ENST00000581140.1_Intron|GDPD1_ENST00000581276.1_Missense_Mutation_p.R271Q	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	271	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTAACTGCTCGAGGCATTCAA	0.353													46	61					0	0	0	0	A	57350187	G	A	57350187	3	1	144	1	0	0	0	0	1	0	0	0	6374	1058	37	1	846	1	GDPD1	17	57350187	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	17468872	57350187	23845023	106	27097											
BCAS3	54828	broad.mit.edu	37	chr17	59112065	59112065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaatttcacccagcaaatCgatgggcggagaattttgtg	13	10	10	8	2	1	1	1	0	0	1	2	3	1	1	1	2	1	1	1	2	3	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:59112065C>T	ENST00000589222.1	+	17	1744	c.1676C>T	c.(1675-1677)tCg>tTg	p.S559L	BCAS3_ENST00000390652.5_Missense_Mutation_p.S574L|BCAS3_ENST00000407086.3_Missense_Mutation_p.S559L|BCAS3_ENST00000588462.1_Missense_Mutation_p.S574L|BCAS3_ENST00000408905.3_Missense_Mutation_p.S559L|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588874.1_Missense_Mutation_p.S330L|BCAS3_ENST00000585744.1_Missense_Mutation_p.S345L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	574						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCCAGCAAATCGATGGGCGGA	0.348													16	55					0	0	0	0	T	59112065	C	T	59112065	3	4	144	1	0	0	0	0	1	0	0	0	1356	893	31	1	1787	1	BCAS3	17	59112065	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	1761878	59112065	22083145	107	27098											
SRP68	6730	broad.mit.edu	37	chr17	74060213	74060213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcagctgcatggcgtagctCcaggctctttcagcatccat	7	12	9	13	1	3	0	2	0	1	0	5	0	5	0	2	2	4	6	2	2	1	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:74060213C>G	ENST00000307877.2	-	4	566	c.405G>C	c.(403-405)tgG>tgC	p.W135C	SRP68_ENST00000539137.1_Missense_Mutation_p.W97C|SRP68_ENST00000355113.5_Missense_Mutation_p.W34C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	135					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TGGCGTAGCTCCAGGCTCTTT	0.493													16	130					0	0	0	0	G	74060213	C	G	74060213	3	3	144	1	0	0	0	0	1	0	0	0	15246	856	30	2	1530	2	SRP68	17	74060213	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	14948148	74060213	7134997	108	27099											
CBX4	8535	broad.mit.edu	37	chr17	77808429	77808429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccggcatcctggggctgcgGatcgctaaccccggacacct	6	6	13	16	4	0	0	0	0	0	0	2	2	1	2	5	5	2	3	5	5	1	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:77808429G>A	ENST00000269397.4	-	5	1189	c.1012C>T	c.(1012-1014)Ccg>Tcg	p.P338S		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	338	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGGGGCTGCGGATCGCTAACC	0.662											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	39					0	0	0	0	A	77808429	G	A	77808429	3	1	144	1	0	0	0	0	1	0	0	0	2745	1174	41	2	674	2	CBX4	17	77808429	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	3748216	77808429	3386781	109	27100											
CBX4	8535	broad.mit.edu	37	chr17	77808470	77808470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccctcctcttgggcGgcgcctccaccttcttctcc	1	12	6	22	2	3	0	0	0	3	0	8	0	7	0	8	2	0	0	8	2	0	3	rs150413647		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:77808470G>A	ENST00000269397.4	-	5	1148	c.971C>T	c.(970-972)cCg>cTg	p.P324L		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	324	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	p.P324L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTCTTGGGCGGCGCCTCCAC	0.672											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	54					0	0	0	0	A	77808470	G	A	77808470	3	1	144	1	0	0	0	0	1	0	0	0	2745	1116	39	1	715	1	CBX4	17	77808470	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	41	77808470	3386740	110	27101											
CABYR	26256	broad.mit.edu	37	chr18	21723218	21723218	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcaagaacttactatgtAtagaggtttgttattccttt	10	20	6	5	0	1	2	1	0	0	2	2	2	2	2	1	1	2	3	1	1	7	10			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr18:21723218A>G	ENST00000399496.3	+	2	305	c.140A>G	c.(139-141)tAt>tGt	p.Y47C	CABYR_ENST00000415309.2_Missense_Mutation_p.Y47C|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399499.1_Missense_Mutation_p.Y47C|CABYR_ENST00000581397.1_Missense_Mutation_p.Y47C	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	47	RIIa.				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CTTACTATGTATAGAGGTTTG	0.343													7	28					0	0	0	0	G	21723218	A	G	21723218	3	3	144	1	0	0	0	0	1	0	0	0	2561	449	16	5	142	5	CABYR	18	21723218	Missense_Mutation	SNP	A	TCGA-CQ-6220-01A-11D-1912-08		21723218	56354030	111	27102											
TCF4	6925	broad.mit.edu	37	chr18	52896157	52896157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtctggggcttgtcactCttgaggtggagctgcaccat	5	13	14	9	0	3	1	1	1	2	0	3	2	3	2	1	5	2	3	1	5	0	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr18:52896157C>G	ENST00000354452.3	-	18	2411	c.1800G>C	c.(1798-1800)aaG>aaC	p.K600N	TCF4_ENST00000566279.1_Missense_Mutation_p.K540N|TCF4_ENST00000356073.4_Missense_Mutation_p.K596N|TCF4_ENST00000570177.2_Missense_Mutation_p.K466N|TCF4_ENST00000567880.1_Missense_Mutation_p.K536N|TCF4_ENST00000398339.1_Missense_Mutation_p.K702N|TCF4_ENST00000570287.2_Missense_Mutation_p.K436N|TCF4_ENST00000568673.1_Missense_Mutation_p.K576N|TCF4_ENST00000457482.3_Missense_Mutation_p.K440N|TCF4_ENST00000561831.3_Missense_Mutation_p.K436N|TCF4_ENST00000564228.1_Missense_Mutation_p.K525N|TCF4_ENST00000565018.2_Missense_Mutation_p.K600N|TCF4_ENST00000537578.1_Missense_Mutation_p.K576N|TCF4_ENST00000544241.2_Missense_Mutation_p.K529N|TCF4_ENST00000566286.1_Missense_Mutation_p.K593N|TCF4_ENST00000564999.1_Missense_Mutation_p.K596N|TCF4_ENST00000561992.1_Missense_Mutation_p.K466N|TCF4_ENST00000543082.1_Missense_Mutation_p.K554N|TCF4_ENST00000537856.3_Missense_Mutation_p.K466N|TCF4_ENST00000564403.2_Missense_Mutation_p.K606N|TCF4_ENST00000568740.1_Missense_Mutation_p.K571N|TCF4_ENST00000540999.1_Missense_Mutation_p.K572N	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	596	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GCTTGTCACTCTTGAGGTGGA	0.622													21	83					0	0	0	0	G	52896157	C	G	52896157	3	3	144	1	0	0	0	0	1	0	0	0	15789	912	32	2	223	2	TCF4	18	52896157	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	31172939	52896157	25181091	112	27103											
ILVBL	10994	broad.mit.edu	37	chr19	15226688	15226688	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgacgaatgtatcaaattcGatgaggctgtagccaaaagc	14	9	10	8	2	1	2	1	2	0	0	2	4	1	2	1	1	2	3	1	1	6	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:15226688G>A	ENST00000263383.3	-	14	1726	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	ILVBL_ENST00000534378.1_Silent_p.I422I	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	529	Thiamine pyrophosphate binding (By similarity).					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TATCAAATTCGATGAGGCTGT	0.582													17	29					0	0	0	0	A	15226688	G	A	15226688	2	1	144	1	0	0	0	0	0	0	0	1	7768	1048	37	1		1	ILVBL	19	15226688	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08		15226688	43902295	113	27104											
CPAMD8	27151	broad.mit.edu	37	chr19	17010309	17010309	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaaagtagaagagcactcGgcgtccagccacttcatacc	13	7	8	13	2	2	2	2	0	0	2	4	2	3	2	3	1	3	2	3	1	4	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:17010309G>A	ENST00000443236.1	-	37	4997	c.4966C>T	c.(4966-4968)Cga>Tga	p.R1656*		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1609						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGAGCACTCGGCGTCCAGCC	0.577													7	48					0	0	0	0	A	17010309	G	A	17010309	4	1	144	1	0	0	0	0	0	1	0	0	3825	1124	39	1	856	1	CPAMD8	19	17010309	Nonsense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	1783621	17010309	42118674	114	27105											
MAST3	23031	broad.mit.edu	37	chr19	18232697	18232697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatagtcctcggaatttctcGgctgcctctgccctaaattt	7	14	8	12	2	2	0	0	0	2	0	5	2	3	1	3	2	2	1	3	2	4	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:18232697G>A	ENST00000262811.5	+	4	198	c.198G>A	c.(196-198)tcG>tcA	p.S66S		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	66							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGAATTTCTCGGCTGCCTCTG	0.642													12	40					0	0	0	0	A	18232697	G	A	18232697	2	1	144	1	0	0	0	0	0	0	0	1	9395	1103	39	1		1	MAST3	19	18232697	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	1222388	18232697	40896286	115	27106											
ZNF285	26974	broad.mit.edu	37	chr19	44901376	44901376	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taacttacctggaacttaatCataccgtcttccttttggaa	11	15	5	10	1	2	0	1	0	1	0	3	2	3	2	3	2	4	0	3	2	6	7			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:44901376C>T	ENST00000330997.4	-	2	67	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF285_ENST00000544719.2_Start_Codon_SNP_p.M1I|CTC-512J12.4_ENST00000588655.1_RNA|CTC-512J12.6_ENST00000588212.1_Start_Codon_SNP_p.M1I|ZNF285_ENST00000591679.1_Start_Codon_SNP_p.M1I	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GGAACTTAATCATACCGTCTT	0.383													8	161					0	0	0	0	T	44901376	C	T	44901376	1	4	144	1	0	0	0	0	0	0	0	0	17917	826	29	2		2	ZNF285	19	44901376	Translation_Start_Site	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	26668679	44901376	14227607	116	27107											
SHANK1	50944	broad.mit.edu	37	chr19	51218989	51218989	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggtcttgtatcggaacTgaggtcaagggtagggtagt	8	11	16	6	2	2	1	1	1	1	0	4	2	2	2	0	5	1	3	0	5	5	4			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:51218989T>A	ENST00000293441.1	-	3	478		c.e3-2		SHANK1_ENST00000391814.1_Splice_Site|SHANK1_ENST00000359082.3_Splice_Site	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1						cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTATCGGAACTGAGGTCAAGG	0.532													58	70					0	0	0	0	A	51218989	T	A	51218989	5	1	144	1	0	0	0	0	0	0	1	0	14352	1594	55	5	6111	5	SHANK1	19	51218989	Splice_Site	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	6317613	51218989	7909994	117	27108											
NLRP2	55655	broad.mit.edu	37	chr19	55493937	55493937	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttcgtgattgacggctttGatgagctgggagccgcacct	6	12	14	9	3	0	4	0	4	0	0	1	5	0	5	2	2	2	4	2	2	0	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:55493937G>C	ENST00000543010.1	+	6	1014	c.871G>C	c.(871-873)Gat>Cat	p.D291H	NLRP2_ENST00000538819.1_Missense_Mutation_p.D267H|NLRP2_ENST00000537859.1_Missense_Mutation_p.D269H|NLRP2_ENST00000391721.4_Missense_Mutation_p.D267H|NLRP2_ENST00000263437.6_Missense_Mutation_p.D288H|NLRP2_ENST00000427260.2_Missense_Mutation_p.D268H|NLRP2_ENST00000448584.2_Missense_Mutation_p.D291H|NLRP2_ENST00000339757.7_Missense_Mutation_p.D269H	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	291	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGACGGCTTTGATGAGCTGGG	0.567													7	72					0	0	0	0	C	55493937	G	C	55493937	3	2	144	1	0	0	0	0	1	0	0	0	10547	1290	45	2	889	2	NLRP2	19	55493937	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	4274948	55493937	3635046	118	27109											
ZNF418	147686	broad.mit.edu	37	chr19	58438123	58438123	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatggcctttctccagtgtGaactctctggtgttcaatga	8	15	9	9	0	3	2	1	2	2	0	5	2	3	2	2	2	1	1	2	2	3	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:58438123G>C	ENST00000396147.1	-	4	1717	c.1426C>G	c.(1426-1428)Cac>Gac	p.H476D	ZNF418_ENST00000595830.1_Missense_Mutation_p.H476D|ZNF418_ENST00000599852.1_Missense_Mutation_p.H391D|ZNF418_ENST00000425570.3_Missense_Mutation_p.H497D|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCTCCAGTGTGAACTCTCTGG	0.448													49	80					0	0	0	0	C	58438123	G	C	58438123	3	2	144	1	0	0	0	0	1	0	0	0	17990	1290	45	2	608	2	ZNF418	19	58438123	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	2944186	58438123	690860	119	27110											
SLC4A11	83959	broad.mit.edu	37	chr20	3211607	3211607	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtctgtgttctcgtcattGagagacccgaaagcgatggt	8	11	12	10	4	3	2	1	1	2	1	4	5	3	2	2	1	1	1	2	1	1	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:3211607G>A	ENST00000380059.3	-	10	1370	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	SLC4A11_ENST00000539553.1_Silent_p.L380L|SLC4A11_ENST00000380056.3_Silent_p.L396L|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	396	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TCTCGTCATTGAGAGACCCGA	0.627													11	101					0	0	0	0	A	3211607	G	A	3211607	2	1	144	1	0	0	0	0	0	0	0	1	14740	1277	45	2		2	SLC4A11	20	3211607	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08		3211607	59813913	120	27111											
CENPB	1059	broad.mit.edu	37	chr20	3766629	3766629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgccaaccagtagtgcTcccgccactgccctccgagg	7	5	11	18	4	0	0	0	0	0	0	2	1	2	0	6	1	4	2	6	1	2	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:3766629T>C	ENST00000379751.4	-	1	708	c.502A>G	c.(502-504)Agc>Ggc	p.S168G		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	168					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCAGTAGTGCTCCCGCCACTG	0.756													2	4					0	0	0	0	C	3766629	T	C	3766629	3	2	144	1	0	0	0	0	1	0	0	0	3256	1551	54	5	1301	5	CENPB	20	3766629	Missense_Mutation	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	555022	3766629	59258891	121	27112											
ESF1	51575	broad.mit.edu	37	chr20	13763716	13763716	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgatccttttctggcattTcccaaaatctcgggtccttt	6	17	6	12	2	2	0	0	0	2	0	7	1	5	0	3	2	0	1	3	2	2	5			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:13763716T>G	ENST00000202816.1	-	2	178	c.71A>C	c.(70-72)gAa>gCa	p.E24A		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTCTGGCATTTCCCAAAATCT	0.398													14	77					0	0	0	0	G	13763716	T	G	13763716	3	3	144	1	0	0	0	0	1	0	0	0	5289	1783	62	5	2536	5	ESF1	20	13763716	Missense_Mutation	SNP	T	TCGA-CQ-6220-01A-11D-1912-08	9997087	13763716	49261804	122	27113											
MYH7B	57644	broad.mit.edu	37	chr20	33582110	33582110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggggttgcgaggggCgctggctgcggccgaggcca	3	5	22	11	5	0	0	0	0	0	0	0	2	0	0	2	7	3	4	2	7	0	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:33582110C>T	ENST00000262873.7	+	25	2824	c.2732C>T	c.(2731-2733)gCg>gTg	p.A911V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	869						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TTGCGAGGGGCGCTGGCTGCG	0.662													12	186					0	0	0	0	T	33582110	C	T	33582110	3	4	144	1	0	0	0	0	1	0	0	0	10110	768	27	1	2830	1	MYH7B	20	33582110	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	19818394	33582110	29443410	123	27114											
SULF2	55959	broad.mit.edu	37	chr20	46386015	46386015	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccctctgaaacctgcctttCaggcggtggtgcgacaggaa	8	9	12	12	2	2	1	1	1	1	0	3	3	3	2	3	4	3	0	3	4	2	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:46386015C>G	ENST00000359930.4	-	2	944	c.93G>C	c.(91-93)ctG>ctC	p.L31L	SULF2_ENST00000361612.4_Silent_p.L31L|SULF2_ENST00000484875.1_Silent_p.L31L|SULF2_ENST00000467815.1_Silent_p.L31L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	31					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ACCTGCCTTTCAGGCGGTGGT	0.627													9	10					0	0	0	0	G	46386015	C	G	46386015	2	3	144	1	0	0	0	0	0	0	0	1	15461	813	29	2		2	SULF2	20	46386015	Silent	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	12803905	46386015	16639505	124	27115											
BAGE2	85319	broad.mit.edu	37	chr21	11039228	11039228	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaggccttgattcttctttgGataccactgttttaggttcc	6	17	9	9	0	2	1	0	1	2	0	3	3	3	2	3	3	1	2	3	3	2	8			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr21:11039228G>C	ENST00000470054.1	-	0	975									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCTTCTTTGGATACCACTGT	0.413													5	318					0	0	0	0	C	11039228	G	C	11039228	1	2	144	0	1	0	0	0	0	0	0	0	1296	1189	41	2		2	BAGE2	21	11039228	RNA	SNP	G	TCGA-CQ-6220-01A-11D-1912-08		11039228	37090667	125	27116											
GGT5	2687	broad.mit.edu	37	chr22	24621019	24621019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctgttgacatgcaggatgGgggctgcaatggccgctctc	6	10	15	10	1	1	1	0	1	1	0	2	2	1	2	1	4	3	6	1	4	1	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:24621019G>A	ENST00000327365.4	-	11	1975	c.1559C>T	c.(1558-1560)cCc>cTc	p.P520L	GGT5_ENST00000418439.2_Missense_Mutation_p.P444L|GGT5_ENST00000263112.7_Missense_Mutation_p.P488L|GGT5_ENST00000398292.3_Missense_Mutation_p.P521L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	520					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						ATGCAGGATGGGGGCTGCAAT	0.612													3	8					0	0	0	0	A	24621019	G	A	24621019	3	1	144	1	0	0	0	0	1	0	0	0	6413	1232	43	4	209	4	GGT5	22	24621019	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08		24621019	26683547	126	27117											
ZNRF3	84133	broad.mit.edu	37	chr22	29446049	29446049	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgccctgtgcttcgagggctCcccgcctcccgaggagctcc	3	8	12	18	3	0	0	0	0	0	0	4	3	3	1	6	2	3	3	6	2	0	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:29446049C>G	ENST00000544604.2	+	8	2055	c.1880C>G	c.(1879-1881)tCc>tGc	p.S627C	ZNRF3_ENST00000402174.1_Missense_Mutation_p.S527C|ZNRF3_ENST00000332811.4_Missense_Mutation_p.S527C|ZNRF3_ENST00000406323.3_Missense_Mutation_p.S527C	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	627						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TTCGAGGGCTCCCCGCCTCCC	0.731													19	40					0	0	0	0	G	29446049	C	G	29446049	3	3	144	1	0	0	0	0	1	0	0	0	18306	855	30	2	1606	2	ZNRF3	22	29446049	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	4825030	29446049	21858517	127	27118											
APOBEC3H	164668	broad.mit.edu	37	chr22	39497291	39497291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taacgagatcaagtccatggGactggacgaaacgcagtgct	13	7	12	9	3	1	1	1	0	0	1	2	5	2	3	1	2	3	2	1	2	3	1			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:39497291G>A	ENST00000442487.3	+	3	327	c.200G>A	c.(199-201)gGa>gAa	p.G67E	APOBEC3H_ENST00000421988.2_Missense_Mutation_p.G67E|APOBEC3H_ENST00000401756.1_Missense_Mutation_p.G67E|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.G67E	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	67					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					AAGTCCATGGGACTGGACGAA	0.542													24	60					0	0	0	0	A	39497291	G	A	39497291	3	1	144	1	0	0	0	0	1	0	0	0	797	1174	41	2	206	2	APOBEC3H	22	39497291	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	10051242	39497291	11807275	128	27119											
HDAC10	83933	broad.mit.edu	37	chr22	50687866	50687866	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgctcatagcggtgcCaggagaagtaaaggacgctg	11	6	14	10	2	1	1	1	0	0	1	1	3	1	2	2	3	3	3	2	3	4	2			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:50687866C>T	ENST00000216271.5	-	7	933	c.581G>A	c.(580-582)tGg>tAg	p.W194*	HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Nonsense_Mutation_p.W194*|HDAC10_ENST00000448072.1_Nonsense_Mutation_p.W194*	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	194	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATAGCGGTGCCAGGAGAAGTA	0.617													4	46					0	0	0	0	T	50687866	C	T	50687866	4	4	144	1	0	0	0	0	0	1	0	0	7055	595	21	4	1484	4	HDAC10	22	50687866	Nonsense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	11190575	50687866	616700	129	27120											
PPP2R3B	28227	broad.mit.edu	37	chrX	295163	295163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggtccacggcgcccagcGgtgagggcgcctcgaagaag	9	3	16	13	5	0	2	0	1	0	1	2	3	1	2	3	4	1	0	3	4	2	0	rs143642265	byFrequency	TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chrX:295163G>A	ENST00000390665.3	-	13	1685	c.1667C>T	c.(1666-1668)cCg>cTg	p.P556L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	556					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGCCCAGCGGTGAGGGCGC	0.726													6	42					0	0	0	0	A	295163	G	A	295163	3	1	144	1	0	0	0	0	1	0	0	0	12465	1116	39	1	64	1	PPP2R3B	23	295163	Missense_Mutation	SNP	G	TCGA-CQ-6220-01A-11D-1912-08		295163	154975397	130	27121											
DIAPH2	1730	broad.mit.edu	37	chrX	96136646	96136646	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgttcatgaattacgatcGggtatatcagatgagaaact	14	13	9	5	2	2	3	2	2	0	2	3	5	2	3	0	1	2	2	0	1	6	5			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chrX:96136646G>C	ENST00000324765.8	+	5	863	c.516G>C	c.(514-516)tcG>tcC	p.S172S	DIAPH2_ENST00000373049.4_Silent_p.S172S|DIAPH2_ENST00000355827.4_Silent_p.S172S|DIAPH2_ENST00000373054.4_Silent_p.S168S|DIAPH2_ENST00000373061.3_Silent_p.S172S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	172	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AATTACGATCGGGTATATCAG	0.383													15	14					0	0	0	0	C	96136646	G	C	96136646	2	2	144	1	0	0	0	0	0	0	0	1	4556	1103	39	3		3	DIAPH2	23	96136646	Silent	SNP	G	TCGA-CQ-6220-01A-11D-1912-08	95841483	96136646	59133914	131	27122											
AIFM1	9131	broad.mit.edu	37	chrX	129281541	129281541	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcatctgaaaaccacagttCttttgaaagaggaggtcgca	13	10	10	8	1	3	3	1	2	2	1	4	4	3	4	1	2	1	2	1	2	3	3			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chrX:129281541C>G	ENST00000287295.3	-	5	762	c.532G>C	c.(532-534)Gaa>Caa	p.E178Q	AIFM1_ENST00000319908.3_Missense_Mutation_p.E174Q|AIFM1_ENST00000535724.1_Missense_Mutation_p.E91Q|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	178	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						AACCACAGTTCTTTTGAAAGA	0.413													20	51					0	0	0	0	G	129281541	C	G	129281541	3	3	144	1	0	0	0	0	1	0	0	0	426	922	32	2	1369	2	AIFM1	23	129281541	Missense_Mutation	SNP	C	TCGA-CQ-6220-01A-11D-1912-08	33144895	129281541	25989019	132	27123											
PLEKHN1	84069	broad.mit.edu	37	chr1	906212	906212	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcctgccctgtggctGcggagcacgtgtgtgtatgt	4	10	18	9	2	0	0	0	0	0	0	0	2	0	1	2	4	3	3	2	4	1	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:906212G>T	ENST00000379409.2	+	5	588	c.558G>T	c.(556-558)ctG>ctT	p.L186L	PLEKHN1_ENST00000379407.2_Intron|PLEKHN1_ENST00000379410.3_Intron			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	186	PH 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCCTGTGGCTGCGGAGCACGT	0.692													13	23					9.31168e-06	1.01642e-05	1	0	T	906212	G	T	906212	2	4	145	1	0	0	0	0	0	0	0	1	12155	1334	46	4		4	PLEKHN1	1	906212	Silent	SNP	G	TCGA-CQ-6221-01A-11D-2078-08		906212	248344409	1	27124											
CHD5	26038	broad.mit.edu	37	chr1	6209356	6209356	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agccttctccagctctgggtCcaggcatacgagatggtagg	8	9	13	11	1	2	1	0	0	2	1	4	2	3	1	3	4	3	3	3	4	2	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:6209356C>G	ENST00000262450.3	-	8	1210	c.1111G>C	c.(1111-1113)Gac>Cac	p.D371H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	371					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCTCTGGGTCCAGGCATACG	0.657													3	21					0	0	0	0	G	6209356	C	G	6209356	3	3	145	1	0	0	0	0	1	0	0	0	3357	855	30	2	4889	2	CHD5	1	6209356	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	5303144	6209356	243041265	2	27125											
CAMTA1	23261	broad.mit.edu	37	chr1	7724545	7724545	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccttcgtgatgcccacGgtgaaaacggaggcctcgtc	8	7	13	13	4	0	2	0	2	0	0	3	3	0	3	3	4	2	1	3	4	2	1	rs142993717		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:7724545G>C	ENST00000303635.7	+	9	2145	c.1938G>C	c.(1936-1938)acG>acC	p.T646T	CAMTA1_ENST00000439411.2_Silent_p.T646T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGATGCCCACGGTGAAAACGG	0.637			T	WWTR1	epitheliod hemangioendothelioma								54	167					0	0	0	0	C	7724545	G	C	7724545	2	2	145	1	0	0	0	0	0	0	0	1	2638	1103	39	3		3	CAMTA1	1	7724545	Silent	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	1515189	7724545	241526076	3	27126											
KIF1B	23095	broad.mit.edu	37	chr1	10318626	10318626	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgctcttacacgcctttGagggatataatgtctgtatt	11	15	8	7	1	2	1	0	1	2	0	2	2	2	2	1	1	2	2	1	1	5	6			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:10318626G>C	ENST00000377086.1	+	4	461	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	KIF1B_ENST00000263934.6_Missense_Mutation_p.E87Q|KIF1B_ENST00000377083.1_Missense_Mutation_p.E87Q|KIF1B_ENST00000377093.4_Missense_Mutation_p.E87Q|KIF1B_ENST00000377081.1_Missense_Mutation_p.E87Q			O60333	KIF1B_HUMAN	kinesin family member 1B	87	Kinesin-motor.			E -> G (in Ref. 7; BAA25517).	anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACACGCCTTTGAGGGATATAA	0.418													21	47					0	0	0	0	C	10318626	G	C	10318626	3	2	145	1	0	0	0	0	1	0	0	0	8335	1291	45	2	269	2	KIF1B	1	10318626	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	2594081	10318626	238931995	4	27127											
VPS13D	55187	broad.mit.edu	37	chr1	12443180	12443180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctggaatgttatccatcaGagtcatcccagatggaccaa	12	11	8	10	0	3	2	2	0	1	2	5	4	5	4	3	2	0	1	3	2	3	2	rs140461198		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:12443180G>C	ENST00000358136.3	+	58	11466	c.11336G>C	c.(11335-11337)aGa>aCa	p.R3779T	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3754T|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3778					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTATCCATCAGAGTCATCCCA	0.433													9	45					0	0	0	0	C	12443180	G	C	12443180	3	2	145	1	0	0	0	0	1	0	0	0	17288	942	33	2	11562	2	VPS13D	1	12443180	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	2124554	12443180	236807441	5	27128											
HTR6	3362	broad.mit.edu	37	chr1	19992252	19992252	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccctcggtcctcatggtCccagagccgggcccaaccgc	6	5	10	20	3	1	1	1	0	0	1	4	1	3	1	7	3	2	0	7	3	1	0			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:19992252C>A	ENST00000289753.1	+	1	473	c.6C>A	c.(4-6)gtC>gtA	p.V2V		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	2					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TCCTCATGGTCCCAGAGCCGG	0.751													4	13					0.00024832	0.000260065	1	0	A	19992252	C	A	19992252	2	1	145	1	0	0	0	0	0	0	0	1	7504	842	30	2		2	HTR6	1	19992252	Silent	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	7549072	19992252	229258369	6	27129											
GRIK3	2899	broad.mit.edu	37	chr1	37291332	37291332	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccattgggctttcgatacagGatgctcacaccaagtgtcat	10	11	9	11	1	2	0	2	0	0	0	3	2	2	1	2	2	2	2	2	2	2	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:37291332G>T	ENST00000373091.3	-	11	1642	c.1626C>A	c.(1624-1626)atC>atA	p.I542I	GRIK3_ENST00000373093.4_Silent_p.I542I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	542					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TTCGATACAGGATGCTCACAC	0.572													22	34					1.28384e-07	1.44199e-07	1	0	T	37291332	G	T	37291332	2	4	145	1	0	0	0	0	0	0	0	1	6825	1164	41	2		2	GRIK3	1	37291332	Silent	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	17299080	37291332	211959289	7	27130											
MTF1	4520	broad.mit.edu	37	chr1	38280845	38280845	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaggcccatctcctccTccccctgcagtagtgcttca	5	11	9	16	0	2	1	1	1	1	0	5	1	4	1	5	2	2	3	5	2	1	2			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:38280845T>C	ENST00000373036.4	-	11	2365	c.2225A>G	c.(2224-2226)gAg>gGg	p.E742G		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	742						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CATCTCCTCCTCCCCCTGCAG	0.547													7	77					0	0	0	0	C	38280845	T	C	38280845	3	2	145	1	0	0	0	0	1	0	0	0	9992	1551	54	5	40	5	MTF1	1	38280845	Missense_Mutation	SNP	T	TCGA-CQ-6221-01A-11D-2078-08	989513	38280845	210969776	8	27131											
GBP7	388646	broad.mit.edu	37	chr1	89616257	89616257	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggatttggggattcttGcctgcagaattagtgaaaaa	11	15	11	4	0	1	2	0	1	1	1	1	4	1	4	1	3	2	1	1	3	4	6			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:89616257G>A	ENST00000294671.2	-	6	765	c.625_splice	c.e6-1	p.G209_splice		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	209						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GGGGATTCTTGCCTGCAGAAT	0.403													11	67					0	0	0	0	A	89616257	G	A	89616257	5	1	145	1	0	0	0	0	0	0	1	0	6328	1333	46	4	1313	4	GBP7	1	89616257	Splice_Site	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	51335412	89616257	159634364	9	27132											
CELSR2	1952	broad.mit.edu	37	chr1	109810498	109810498	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggctacagcggaatgagtCaggcctagactcagggcgct	9	6	15	11	3	2	2	2	1	0	1	2	3	2	3	1	4	2	2	1	4	3	2			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:109810498C>G	ENST00000271332.3	+	17	6195	c.6134C>G	c.(6133-6135)tCa>tGa	p.S2045*		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2045					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGAATGAGTCAGGCCTAGAC	0.632													3	31					0	0	0	0	G	109810498	C	G	109810498	4	3	145	1	0	0	0	0	0	1	0	0	3251	838	29	2	6200	2	CELSR2	1	109810498	Nonsense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	20194241	109810498	139440123	10	27133											
SORT1	6272	broad.mit.edu	37	chr1	109897086	109897086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttgcacaaaattcttcGcaaaatctgatgatctaaag	14	13	6	8	1	3	2	0	2	3	0	4	2	3	2	0	0	1	3	0	0	6	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:109897086G>A	ENST00000256637.6	-	5	669	c.611C>T	c.(610-612)gCg>gTg	p.A204V	SORT1_ENST00000538502.1_Missense_Mutation_p.A68V	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	204					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		AAAATTCTTCGCAAAATCTGA	0.418													30	77					0	0	0	0	A	109897086	G	A	109897086	3	1	145	1	0	0	0	0	1	0	0	0	15023	1087	38	1	1948	1	SORT1	1	109897086	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	86588	109897086	139353535	11	27134											
ATP8B2	57198	broad.mit.edu	37	chr1	154306629	154306629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaaactggacaaattcagCggaaccctctactggaagga	16	6	9	10	1	2	0	1	0	1	0	2	4	2	4	1	4	5	0	1	4	6	2	rs142408071	by1000genomes	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:154306629C>T	ENST00000368489.3	+	10	735	c.735C>T	c.(733-735)agC>agT	p.S245S	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.S231S|ATP8B2_ENST00000368487.3_Silent_p.S212S	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	231					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAAATTCAGCGGAACCCTCT	0.517													104	167					0	0	0	0	T	154306629	C	T	154306629	2	4	145	1	0	0	0	0	0	0	0	1	1199	767	27	1		1	ATP8B2	1	154306629	Silent	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	44409543	154306629	94943992	12	27135											
PIK3C2B	5287	broad.mit.edu	37	chr1	204413526	204413526	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaatccactgcacagccAtacgacgcacctcctggtcc	10	6	7	18	2	0	0	0	0	0	0	3	1	3	0	6	1	4	2	6	1	2	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:204413526A>T	ENST00000367187.3	-	18	3261	c.2705T>A	c.(2704-2706)aTg>aAg	p.M902K	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.M874K	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	902					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTGCACAGCCATACGACGCAC	0.587													4	15					0	0	0	0	T	204413526	A	T	204413526	3	4	145	1	0	0	0	0	1	0	0	0	11982	217	8	5	2267	5	PIK3C2B	1	204413526	Missense_Mutation	SNP	A	TCGA-CQ-6221-01A-11D-2078-08	50106897	204413526	44837095	13	27136											
NLRP3	114548	broad.mit.edu	37	chr1	247587937	247587937	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagccagggcagccttcagtCtgattcaggagaacgaggtc	11	7	13	10	1	3	2	2	1	1	1	4	4	3	2	2	3	3	1	2	3	2	2			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:247587937C>G	ENST00000366497.2	+	4	1972	c.1192C>G	c.(1192-1194)Ctg>Gtg	p.L398V	NLRP3_ENST00000336119.3_Missense_Mutation_p.L398V|NLRP3_ENST00000391828.3_Missense_Mutation_p.L398V|NLRP3_ENST00000366496.2_Missense_Mutation_p.L398V|NLRP3_ENST00000348069.2_Missense_Mutation_p.L398V|NLRP3_ENST00000391827.2_Missense_Mutation_p.L398V|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	398	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGCCTTCAGTCTGATTCAGGA	0.537													23	42					0	0	0	0	G	247587937	C	G	247587937	3	3	145	1	0	0	0	0	1	0	0	0	10548	912	32	2	1202	2	NLRP3	1	247587937	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	43174411	247587937	1662684	14	27137											
ADAM17	6868	broad.mit.edu	37	chr2	9642395	9642395	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtttttacagcaaggacTgttcctgtcactggagaaga	12	11	10	8	0	1	2	1	0	0	2	2	4	2	3	1	2	2	3	1	2	3	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:9642395T>A	ENST00000310823.3	-	13	1737	c.1555A>T	c.(1555-1557)Agt>Tgt	p.S519C		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	519	Disintegrin.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CAGCAAGGACTGTTCCTGTCA	0.468													43	40					0	0	0	0	A	9642395	T	A	9642395	3	1	145	1	0	0	0	0	1	0	0	0	238	1580	55	5	947	5	ADAM17	2	9642395	Missense_Mutation	SNP	T	TCGA-CQ-6221-01A-11D-2078-08		9642395	233556978	15	27138											
YWHAQ	10971	broad.mit.edu	37	chr2	9728378	9728378	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttaagagcaagccccaggcgGattgggtgtgtgggttgcat	8	10	16	7	1	0	1	0	0	0	1	0	2	0	2	2	4	3	3	2	4	2	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:9728378G>C	ENST00000381844.4	-	3	661	c.498C>G	c.(496-498)atC>atG	p.I166M	YWHAQ_ENST00000238081.3_Missense_Mutation_p.I166M|YWHAQ_ENST00000474715.1_5'UTR			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	166					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		GCCCCAGGCGGATTGGGTGTG	0.428													26	21					0	0	0	0	C	9728378	G	C	9728378	3	2	145	1	0	0	0	0	1	0	0	0	17601	1164	41	2	251	2	YWHAQ	2	9728378	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	85983	9728378	233470995	16	27139											
C2orf16	84226	broad.mit.edu	37	chr2	27803934	27803934	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaaatgaaacctccagccagGagtctaagaacttgtccaca	15	7	8	11	0	1	2	0	1	1	1	3	4	3	3	4	1	3	0	4	1	4	2			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:27803934G>C	ENST00000408964.2	+	1	4546	c.4495G>C	c.(4495-4497)Gag>Cag	p.E1499Q		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1499										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTCCAGCCAGGAGTCTAAGAA	0.478													34	71					0	0	0	0	C	27803934	G	C	27803934	3	2	145	1	0	0	0	0	1	0	0	0	2177	1175	41	2	4497	2	C2orf16	2	27803934	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	18075556	27803934	215395439	17	27140											
ALK	238	broad.mit.edu	37	chr2	30143411	30143411	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgagtggctcccggggctGcagcggcggccccgcagctg	3	5	18	15	4	0	1	0	1	0	0	1	1	1	1	3	5	3	6	3	5	0	0			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:30143411G>A	ENST00000389048.3	-	1	1021	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	ALK_ENST00000431873.1_Nonsense_Mutation_p.Q39*	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	39					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TCCCGGGGCTGCAGCGGCGGC	0.706			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	12					0	0	0	0	A	30143411	G	A	30143411	4	1	145	1	0	0	0	0	0	1	0	0	525	1328	46	4	4863	4	ALK	2	30143411	Nonsense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	2339477	30143411	213055962	18	27141											
HEATR5B	54497	broad.mit.edu	37	chr2	37310507	37310507	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actggtctttttgcttcggtGatttgagccaaagcttcttc	6	17	9	9	1	2	2	0	2	2	0	4	2	2	2	1	2	3	2	1	2	1	6			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:37310507G>A	ENST00000233099.5	-	2	146	c.51C>T	c.(49-51)atC>atT	p.I17I	HEATR5B_ENST00000354531.2_Silent_p.I17I	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	17							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTGCTTCGGTGATTTGAGCCA	0.363													14	38					0	0	0	0	A	37310507	G	A	37310507	2	1	145	1	0	0	0	0	0	0	0	1	7082	1280	45	2		2	HEATR5B	2	37310507	Silent	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	7167096	37310507	205888866	19	27142											
GPR39	2863	broad.mit.edu	37	chr2	133402786	133402786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacttccgggcgtacatGatcctcctccccttctcgga	5	12	7	17	3	1	1	0	1	1	0	7	2	6	2	6	2	2	1	6	2	2	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:133402786G>T	ENST00000329321.3	+	2	1438	c.969G>T	c.(967-969)atG>atT	p.M323I	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	323						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGCGTACATGATCCTCCTCC	0.587													21	45					1.9806e-07	2.20858e-07	1	0	T	133402786	G	T	133402786	3	4	145	1	0	0	0	0	1	0	0	0	6742	1290	45	2	975	2	GPR39	2	133402786	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	96092279	133402786	109796587	20	27143											
SCRN3	79634	broad.mit.edu	37	chr2	175263019	175263019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagttaaaaaaaatggaacCtttttcctgtgacactttcg	13	15	6	7	1	0	1	0	1	0	0	2	2	1	2	2	1	1	1	2	1	6	5			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:175263019C>A	ENST00000272732.6	+	2	90	c.8C>A	c.(7-9)cCt>cAt	p.P3H	SCRN3_ENST00000409673.3_Intron	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	3					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AAAATGGAACCTTTTTCCTGT	0.289													6	55					0.00116845	0.0012155	1	0	A	175263019	C	A	175263019	3	1	145	1	0	0	0	0	1	0	0	0	14027	681	24	4	10	4	SCRN3	2	175263019	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	41860233	175263019	67936354	21	27144											
GPR155	151556	broad.mit.edu	37	chr2	175330545	175330545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtgctatagagggagctgTacaatagaacaaacaccaaa	18	6	10	7	0	0	2	0	0	0	2	0	3	0	3	1	2	5	3	1	2	8	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:175330545T>C	ENST00000392552.2	-	7	1590	c.1352A>G	c.(1351-1353)tAc>tGc	p.Y451C	GPR155_ENST00000392551.2_Missense_Mutation_p.Y451C|GPR155_ENST00000295500.4_Missense_Mutation_p.Y451C	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	451					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GAGGGAGCTGTACAATAGAAC	0.388													5	15					0	0	0	0	C	175330545	T	C	175330545	3	2	145	1	0	0	0	0	1	0	0	0	6709	1638	57	5	1300	5	GPR155	2	175330545	Missense_Mutation	SNP	T	TCGA-CQ-6221-01A-11D-2078-08	67526	175330545	67868828	22	27145											
MSTN	2660	broad.mit.edu	37	chr2	190927237	190927237	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttccacattttcttttTgctcactgttctcatttaga	6	22	3	10	0	3	1	2	0	2	1	5	1	4	1	1	0	1	2	1	0	1	9			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:190927237T>C	ENST00000260950.4	-	1	218	c.86A>G	c.(85-87)cAa>cGa	p.Q29R	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	29					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATTTTCTTTTTGCTCACTGTT	0.348													35	74					0	0	0	0	C	190927237	T	C	190927237	3	2	145	1	0	0	0	0	1	0	0	0	9963	1812	63	5	1053	5	MSTN	2	190927237	Missense_Mutation	SNP	T	TCGA-CQ-6221-01A-11D-2078-08	15596692	190927237	52272136	23	27146											
CLK1	1195	broad.mit.edu	37	chr2	201726085	201726085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttcatggtctctttggCgatgtccaggttcacatcct	5	15	10	11	1	3	0	2	0	1	0	6	1	5	0	2	4	0	2	2	4	0	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:201726085C>G	ENST00000434813.2	-	3	726	c.392G>C	c.(391-393)cGc>cCc	p.R131P	CLK1_ENST00000321356.4_Missense_Mutation_p.R89P|CLK1_ENST00000492793.1_5'UTR	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	89					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTCTCTTTGGCGATGTCCAGG	0.403													50	101					0	0	0	0	G	201726085	C	G	201726085	3	3	145	1	0	0	0	0	1	0	0	0	3566	768	27	3	1232	3	CLK1	2	201726085	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	10798848	201726085	41473288	24	27147											
USP37	57695	broad.mit.edu	37	chr2	219362475	219362475	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acattctgcatataaccagaGaatctctctgctgtagctga	12	12	7	10	0	3	2	0	1	3	1	4	3	3	2	1	0	4	4	1	0	4	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:219362475G>C	ENST00000258399.3	-	13	1675	c.1263C>G	c.(1261-1263)ttC>ttG	p.F421L	USP37_ENST00000418019.1_Missense_Mutation_p.F421L|USP37_ENST00000415516.1_Missense_Mutation_p.F349L|USP37_ENST00000454775.1_Missense_Mutation_p.F421L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	421					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)		TATAACCAGAGAATCTCTCTG	0.393													21	38					0	0	0	0	C	219362475	G	C	219362475	3	2	145	1	0	0	0	0	1	0	0	0	17164	933	33	2	1732	2	USP37	2	219362475	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	17636390	219362475	23836898	25	27148											
C2orf83	56918	broad.mit.edu	37	chr2	228476316	228476316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagcccgcatgtctgtaCggtaagtttcctcatccctg	6	12	10	13	2	3	0	2	0	1	0	5	0	5	0	3	2	2	4	3	2	2	3	rs111332429	byFrequency	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:228476316C>T	ENST00000264387.4	-	3	333	c.247G>A	c.(247-249)Gta>Ata	p.V83I	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	83						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						CATGTCTGTACGGTAAGTTTC	0.468													22	38					0	0	0	0	T	228476316	C	T	228476316	3	4	145	1	0	0	0	0	1	0	0	0	2218	536	19	1	209	1	C2orf83	2	228476316	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	9113841	228476316	14723057	26	27149											
DNER	92737	broad.mit.edu	37	chr2	230272008	230272008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctgtcacaggtggctcCgttcagacagctgacgttag	7	10	13	11	3	2	2	2	1	0	1	4	2	3	2	1	2	1	5	1	2	1	2			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:230272008C>G	ENST00000341772.4	-	10	1797	c.1663G>C	c.(1663-1665)Gga>Cga	p.G555R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	555	EGF-like 9.|Follistatin-like.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.G555*(1)|p.G555R(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAGGTGGCTCCGTTCAGACAG	0.512													18	79					0	0	0	0	G	230272008	C	G	230272008	3	3	145	1	0	0	0	0	1	0	0	0	4703	661	23	3	566	3	DNER	2	230272008	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	1795692	230272008	12927365	27	27150											
STK25	10494	broad.mit.edu	37	chr2	242441064	242441064	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttgtagacctccccaaaCgagcccttgccaatgcggtc	8	8	8	17	2	0	1	0	0	0	1	2	2	1	1	6	1	4	1	6	1	3	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:242441064C>T	ENST00000316586.4	-	3	439	c.90G>A	c.(88-90)tcG>tcA	p.S30S	STK25_ENST00000403346.3_Silent_p.S30S|STK25_ENST00000405883.3_Intron|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000405585.1_Intron|STK25_ENST00000401869.1_Silent_p.S30S	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN	serine/threonine kinase 25	30	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CCTCCCCAAACGAGCCCTTGC	0.612													5	73					0	0	0	0	T	242441064	C	T	242441064	2	4	145	1	0	0	0	0	0	0	0	1	15384	523	19	1		1	STK25	2	242441064	Silent	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	12169056	242441064	758309	28	27151											
TTC14	151613	broad.mit.edu	37	chr3	180328289	180328289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatatatttaatcagataGctgaatttgaaaaagaaaaa	21	12	6	2	0	1	5	1	3	0	2	1	5	1	5	0	0	1	1	0	0	10	6			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr3:180328289G>A	ENST00000296015.4	+	12	2404	c.2272G>A	c.(2272-2274)Gct>Act	p.A758T	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	758							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAATCAGATAGCTGAATTTGA	0.313													8	86					0	0	0	0	A	180328289	G	A	180328289	3	1	145	1	0	0	0	0	1	0	0	0	16777	971	34	4	2348	4	TTC14	3	180328289	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08		180328289	17694141	29	27152											
MCF2L2	23101	broad.mit.edu	37	chr3	183006931	183006931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttcaaatttagtctcatCatcttcctttccccgggagt	8	15	6	12	1	4	0	3	0	2	0	7	2	6	1	3	1	0	0	3	1	2	5			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr3:183006931C>T	ENST00000328913.3	-	14	2050	c.1753G>A	c.(1753-1755)Gat>Aat	p.D585N	MCF2L2_ENST00000473233.1_Missense_Mutation_p.D585N|MCF2L2_ENST00000414362.2_Missense_Mutation_p.D585N|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000447025.2_Missense_Mutation_p.D585N	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	585					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTAGTCTCATCATCTTCCTTT	0.403													21	33					0	0	0	0	T	183006931	C	T	183006931	3	4	145	1	0	0	0	0	1	0	0	0	9449	826	29	2	1659	2	MCF2L2	3	183006931	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	2678642	183006931	15015499	30	27153											
HTR3D	200909	broad.mit.edu	37	chr3	183756319	183756329	+	Frame_Shift_Del	DEL	CTGCTGCTGCA	CTGCTGCTGCA	-																															tgcctcggtggctccactccCtgctgctgcactgcaccggc																										TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr3:183756319_183756329delCTGCTGCTGCA	ENST00000382489.3	+	7	1042_1052	c.1042_1052delCTGCTGCTGCA	c.(1042-1053)cfs	p.LLLH348fs	HTR3D_ENST00000453435.1_Frame_Shift_Del_p.LLLH127fs|HTR3D_ENST00000428798.2_Frame_Shift_Del_p.LLLH298fs|HTR3D_ENST00000334128.2_Frame_Shift_Del_p.LLLH173fs	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	348						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTCCACTCCCTGCTGCTGCACTGCACCGGC	0.654													14	98	---	---	---	---					-	183756329	CTGCTGCTGCA	-	183756319	7	5	145	1	0	1	0	1	0	0	0	0	7500	680	24	0	1238	0	HTR3D	3	183756319	Frame_Shift_Del	DEL	CTGCTGCTGCA	TCGA-CQ-6221-01A-11D-2078-08	749388	183756319	14266111	31	27154											
EHHADH	1962	broad.mit.edu	37	chr3	184910480	184910493	+	Frame_Shift_Del	DEL	CCTAATTCACAGAG	CCTAATTCACAGAG	-																															ctgtcttctggccaaatcgtCctaattcacagagcacatca																										TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr3:184910480_184910493delCCTAATTCACAGAG	ENST00000231887.3	-	7	1768_1781	c.1693_1706delCTCTGTGAATTAGG	c.(1693-1707)afs	p.LCELG565fs	EHHADH_ENST00000456310.1_Frame_Shift_Del_p.LCELG469fs	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	565	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GCCAAATCGTCCTAATTCACAGAGCACATCAGGA	0.472													9	104	---	---	---	---					-	184910493	CCTAATTCACAGAG	-	184910480	7	5	145	1	0	1	0	1	0	0	0	0	5018	855	30	0	469	0	EHHADH	3	184910480	Frame_Shift_Del	DEL	CCTAATTCACAGAG	TCGA-CQ-6221-01A-11D-2078-08	1154161	184910480	13111950	32	27155											
MUC4	4585	broad.mit.edu	37	chr3	195516484	195516484	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcttggtgtcagtcatggggGagacggacctcgtggtttgt	5	13	16	7	2	3	1	2	0	1	1	4	3	3	2	1	5	0	1	1	5	0	2	rs3749330	by1000genomes	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr3:195516484G>C	ENST00000463781.3	-	2	2426	c.1967C>G	c.(1966-1968)tCc>tGc	p.S656C	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S656C|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	661					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGTCATGGGGGAGACGGACCT	0.562													12	172					0	0	0	0	C	195516484	G	C	195516484	3	2	145	1	0	0	0	0	1	0	0	0	10048	1174	41	2		2	MUC4	3	195516484	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	10606004	195516484	2505946	33	27156											
FAM193A	8603	broad.mit.edu	37	chr4	2717749	2717749	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttctcttttgttttacaGatgatgtctttctacctaaa	8	20	5	8	0	3	2	0	1	3	1	4	2	3	2	1	0	3	2	1	0	4	8			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:2717749G>C	ENST00000324666.5	+	19	3973		c.e19-1		FAM193A_ENST00000505311.1_Splice_Site|FAM193A_ENST00000382839.3_Splice_Site|FAM193A_ENST00000502458.1_Splice_Site|FAM193A_ENST00000545951.1_Splice_Site	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A											NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTGTTTTACAGATGATGTCTT	0.378													28	52					0	0	0	0	C	2717749	G	C	2717749	5	2	145	1	0	0	0	0	0	0	1	0	5567	956	33	2	3561	2	FAM193A	4	2717749	Splice_Site	SNP	G	TCGA-CQ-6221-01A-11D-2078-08		2717749	188436527	34	27157											
RBPJ	3516	broad.mit.edu	37	chr4	26432465	26432465	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacctttacctacacaccaGaaccagggccgcggccacat	11	7	7	16	2	0	1	0	0	0	1	0	1	0	1	6	2	4	0	6	2	4	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:26432465G>C	ENST00000342320.4	+	11	1473	c.1297G>C	c.(1297-1299)Gaa>Caa	p.E433Q	RBPJ_ENST00000345843.3_Missense_Mutation_p.E432Q|RBPJ_ENST00000504907.1_3'UTR|RBPJ_ENST00000342295.1_Missense_Mutation_p.E447Q|RBPJ_ENST00000348160.4_Missense_Mutation_p.E434Q|RBPJ_ENST00000355476.3_Missense_Mutation_p.E433Q|RBPJ_ENST00000507561.1_Missense_Mutation_p.E412Q|RBPJ_ENST00000361572.6_Missense_Mutation_p.E447Q			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	447	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CTACACACCAGAACCAGGGCC	0.527													17	41					0	0	0	0	C	26432465	G	C	26432465	3	2	145	1	0	0	0	0	1	0	0	0	13243	943	33	2	1444	2	RBPJ	4	26432465	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	23714716	26432465	164721811	35	27158											
LPHN3	23284	broad.mit.edu	37	chr4	62849282	62849282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcactcattgtggctgtgtCagctgcagtagactacagga	9	11	12	9	0	2	1	2	0	0	1	2	2	2	2	0	2	4	5	0	2	2	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:62849282C>T	ENST00000512091.1	+	18	3740	c.2993C>T	c.(2992-2994)tCa>tTa	p.S998L	LPHN3_ENST00000506700.1_Missense_Mutation_p.S998L|LPHN3_ENST00000507164.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000506720.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000504896.1_Missense_Mutation_p.S998L|LPHN3_ENST00000509896.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000508693.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000511324.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000514591.1_Missense_Mutation_p.S998L|LPHN3_ENST00000508946.1_Missense_Mutation_p.S998L|LPHN3_ENST00000514157.1_Missense_Mutation_p.S998L|LPHN3_ENST00000545650.1_Missense_Mutation_p.S998L|LPHN3_ENST00000514996.1_Missense_Mutation_p.S998L|LPHN3_ENST00000507625.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000506746.1_Missense_Mutation_p.S1066L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	985					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTGGCTGTGTCAGCTGCAGTA	0.383													36	90					0	0	0	0	T	62849282	C	T	62849282	3	4	145	1	0	0	0	0	1	0	0	0	8981	838	29	2	3055	2	LPHN3	4	62849282	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	36416817	62849282	128304994	36	27159											
UGT2B4	7363	broad.mit.edu	37	chr4	70360953	70360953	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatcatattttttaccctCtctatgaaagtcatttggtc	10	18	5	8	0	3	2	2	1	1	1	5	2	3	2	1	1	1	0	1	1	5	7			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:70360953C>T	ENST00000305107.6	-	1	673	c.627G>A	c.(625-627)gaG>gaA	p.E209E	UGT2B4_ENST00000512583.1_Silent_p.E209E|UGT2B4_ENST00000381096.3_Silent_p.E73E|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	209					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTTTTACCCTCTCTATGAAAG	0.378													11	29					0	0	0	0	T	70360953	C	T	70360953	2	4	145	1	0	0	0	0	0	0	0	1	17057	912	32	2		2	UGT2B4	4	70360953	Silent	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	7511671	70360953	120793323	37	27160											
ENAM	10117	broad.mit.edu	37	chr4	71509483	71509483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagagagaaagaaggccGtattttaacagaaatatctg	16	8	12	5	1	1	4	0	0	1	4	1	5	1	4	1	2	1	2	1	2	6	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:71509483G>A	ENST00000396073.3	+	9	2621	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	780					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAAGAAGGCCGTATTTTAACA	0.473													20	35					0	0	0	0	A	71509483	G	A	71509483	2	1	145	1	0	0	0	0	0	0	0	1	5150	1132	40	1		1	ENAM	4	71509483	Silent	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	1148530	71509483	119644793	38	27161											
FBXW7	55294	broad.mit.edu	37	chr4	153247255	153247255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataaaatcatatgctccaCtaacaaccctcctgccatca	14	9	2	16	0	2	0	2	0	0	0	4	0	4	0	5	0	4	1	5	0	5	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:153247255C>T	ENST00000281708.4	-	10	2776	c.1547G>A	c.(1546-1548)aGt>aAt	p.S516N	FBXW7_ENST00000263981.5_Missense_Mutation_p.S436N|FBXW7_ENST00000603841.1_Missense_Mutation_p.S516N|FBXW7_ENST00000296555.5_Missense_Mutation_p.S398N|FBXW7_ENST00000393956.3_Missense_Mutation_p.S340N|FBXW7_ENST00000603548.1_Missense_Mutation_p.S516N	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	516					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATATGCTCCACTAACAACCCT	0.443			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								22	122					0	0	0	0	T	153247255	C	T	153247255	3	4	145	1	0	0	0	0	1	0	0	0	5814	565	20	4	588	4	FBXW7	4	153247255	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	81737772	153247255	37907021	39	27162											
FBXL7	23194	broad.mit.edu	37	chr5	15937151	15937151	+	Frame_Shift_Del	DEL	G	G	-																															tgcgagagcatcaccggccaGggcttgcagatcgtggccgc																										TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr5:15937151delG	ENST00000504595.1	+	4	1813	c.1332delG	c.(1330-1332)cafs	p.Q444fs	FBXL7_ENST00000329673.7_Frame_Shift_Del_p.Q432fs|FBXL7_ENST00000510662.1_Frame_Shift_Del_p.Q397fs	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	444					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCACCGGCCAGGGCTTGCAGA	0.612													20	32	---	---	---	---					-	15937151	G	-	15937151	7	5	145	1	0	1	0	1	0	0	0	0	5769	991	35	0	1346	0	FBXL7	5	15937151	Frame_Shift_Del	DEL	G	TCGA-CQ-6221-01A-11D-2078-08		15937151	164978109	40	27163											
HSPA4	3308	broad.mit.edu	37	chr5	132427046	132427046	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagccaatggaaacagatCagaatgcaaaggaggaagag	19	3	14	5	0	1	3	1	0	0	3	1	7	1	7	1	4	3	1	1	4	5	0			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr5:132427046C>T	ENST00000304858.2	+	12	1829	c.1540C>T	c.(1540-1542)Cag>Tag	p.Q514*		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	514					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAAACAGATCAGAATGCAAA	0.438													11	13					0	0	0	0	T	132427046	C	T	132427046	4	4	145	1	0	0	0	0	0	1	0	0	7464	827	29	2	1586	2	HSPA4	5	132427046	Nonsense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	116489895	132427046	48488214	41	27164											
HIST1H1D	3007	broad.mit.edu	37	chr6	26234945	26234945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgttgtttttttctacatCgtagccagcagccgcaagcg	7	13	10	11	3	1	0	0	0	1	0	2	0	1	0	2	0	5	6	2	0	3	6			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:26234945C>T	ENST00000244534.5	-	1	271	c.217G>A	c.(217-219)Gat>Aat	p.D73N		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	73	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTTTCTACATCGTAGCCAGCA	0.542													34	80					0	0	0	0	T	26234945	C	T	26234945	3	4	145	1	0	0	0	0	1	0	0	0	7175	884	31	1	452	1	HIST1H1D	6	26234945	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08		26234945	144880122	42	27165											
SH3BGRL2	83699	broad.mit.edu	37	chr6	80383466	80383466	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccggaaaagaaacccactCagggcaaccccctgccacct	12	3	7	19	1	1	1	1	0	0	1	1	2	1	2	7	2	3	1	7	2	4	0			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:80383466C>G	ENST00000369838.4	+	2	360	c.181C>G	c.(181-183)Cag>Gag	p.Q61E		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein like 2	61						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		GAAACCCACTCAGGGCAACCC	0.458													27	60					0	0	0	0	G	80383466	C	G	80383466	3	3	145	1	0	0	0	0	1	0	0	0	14329	827	29	2	187	2	SH3BGRL2	6	80383466	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	54148521	80383466	90731601	43	27166											
MAP3K7	6885	broad.mit.edu	37	chr6	91246083	91246083	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttctgttccagttacagtCaagtcttggatggatctacg	8	14	11	8	1	4	0	1	0	3	0	5	2	5	2	1	3	2	3	1	3	3	5			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:91246083C>G	ENST00000369329.3	-	13	1490	c.1329G>C	c.(1327-1329)ttG>ttC	p.L443F	MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.L416F|MAP3K7_ENST00000369320.1_Missense_Mutation_p.L97F|MAP3K7_ENST00000369327.3_Missense_Mutation_p.L416F|MAP3K7_ENST00000369325.3_Missense_Mutation_p.L443F	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	443					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGTTACAGTCAAGTCTTGGA	0.343													13	28					0	0	0	0	G	91246083	C	G	91246083	3	3	145	1	0	0	0	0	1	0	0	0	9324	825	29	2	511	2	MAP3K7	6	91246083	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	10862617	91246083	79868984	44	27167											
REV3L	5980	broad.mit.edu	37	chr6	111680071	111680071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaatcactattacacctgtGagttctgttttttctgtatc	8	19	5	9	0	4	1	2	1	2	0	5	1	4	1	1	0	1	3	1	0	4	7			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:111680071G>A	ENST00000435970.1	-	19	7608	c.6792C>T	c.(6790-6792)ctC>ctT	p.L2264L	REV3L_ENST00000368805.1_Silent_p.L2342L|REV3L_ENST00000368802.3_Silent_p.L2342L|REV3L_ENST00000358835.3_Silent_p.L2342L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2342					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTACACCTGTGAGTTCTGTTT	0.398								DNA polymerases (catalytic subunits)					26	58					0	0	0	0	A	111680071	G	A	111680071	2	1	145	1	0	0	0	0	0	0	0	1	13322	1277	45	2		2	REV3L	6	111680071	Silent	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	20433988	111680071	59434996	45	27168											
ROS1	6098	broad.mit.edu	37	chr6	117708099	117708099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaactctcctgggccaaagCtatttaatggtttactccaa	12	12	7	10	0	1	1	0	0	1	1	3	1	2	1	3	2	3	2	3	2	6	5			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:117708099C>T	ENST00000368508.3	-	14	2276	c.2078G>A	c.(2077-2079)aGc>aAc	p.S693N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S688N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	693					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGGGCCAAAGCTATTTAATGG	0.383			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								29	50					0	0	0	0	T	117708099	C	T	117708099	3	4	145	1	0	0	0	0	1	0	0	0	13616	797	28	4	5085	4	ROS1	6	117708099	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	6028028	117708099	53406968	46	27169											
RAB32	10981	broad.mit.edu	37	chr6	146865145	146865145	+	Frame_Shift_Del	DEL	C	C	-																															agcatcatcaagcgctacgtCcaccagctcttctcccagca																										TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:146865145delC	ENST00000367495.3	+	1	317	c.138delC	c.(136-138)gtfs	p.V46fs		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	46					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		AGCGCTACGTCCACCAGCTCT	0.662													17	28	---	---	---	---					-	146865145	C	-	146865145	7	5	145	1	0	1	0	1	0	0	0	0	13003	842	30	0	140	0	RAB32	6	146865145	Frame_Shift_Del	DEL	C	TCGA-CQ-6221-01A-11D-2078-08	29157046	146865145	24249922	47	27170											
SNX9	51429	broad.mit.edu	37	chr6	158330947	158330947	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttattttgtagaacactaAtcgatctgtaaaccacaggt	13	13	6	9	1	1	1	0	0	1	1	2	2	1	1	2	1	2	2	2	1	6	6			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:158330947A>G	ENST00000392185.3	+	9	1010	c.839A>G	c.(838-840)aAt>aGt	p.N280S		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	280	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TAGAACACTAATCGATCTGTA	0.393													32	56					0	0	0	0	G	158330947	A	G	158330947	3	3	145	1	0	0	0	0	1	0	0	0	14997	101	4	5	873	5	SNX9	6	158330947	Missense_Mutation	SNP	A	TCGA-CQ-6221-01A-11D-2078-08	11465802	158330947	12784120	48	27171											
WTAP	9589	broad.mit.edu	37	chr6	160176488	160176488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagactctcccacgggcagtGaaaactctctcacacaccaa	13	7	6	15	1	3	2	1	1	2	1	5	2	3	2	2	1	1	1	2	1	4	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:160176488G>A	ENST00000358372.4	+	8	2793	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	346					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CACGGGCAGTGAAAACTCTCT	0.507													24	41					0	0	0	0	A	160176488	G	A	160176488	3	1	145	1	0	0	0	0	1	0	0	0	17505	1291	45	2	1066	2	WTAP	6	160176488	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	1845541	160176488	10938579	49	27172											
MSRA	4482	broad.mit.edu	37	chr8	10285683	10285683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcagagcacggcttcggccCcatcactaccgacatccggg	8	7	10	16	4	2	1	2	0	0	1	4	2	3	1	4	3	2	2	4	3	1	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:10285683C>T	ENST00000528246.1	+	7	994	c.371C>T	c.(370-372)cCc>cTc	p.P124L	MSRA_ENST00000382490.5_Missense_Mutation_p.P147L|MSRA_ENST00000317173.4_Missense_Mutation_p.P190L|MSRA_ENST00000441698.2_Missense_Mutation_p.P150L	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	190					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GGCTTCGGCCCCATCACTACC	0.597													14	26					0	0	0	0	T	10285683	C	T	10285683	3	4	145	1	0	0	0	0	1	0	0	0	9957	623	22	4	608	4	MSRA	8	10285683	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08		10285683	136078339	50	27173											
FAM160B2	64760	broad.mit.edu	37	chr8	21958395	21958395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acttcaccgacagcttcctgGattccggctttcaaactccc	8	11	6	16	2	2	0	2	0	0	0	5	2	5	1	4	2	2	2	4	2	1	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:21958395G>A	ENST00000289921.7	+	12	1574	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	510										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CAGCTTCCTGGATTCCGGCTT	0.572													34	78					0	0	0	0	A	21958395	G	A	21958395	3	1	145	1	0	0	0	0	1	0	0	0	5512	1174	41	2	1373	2	FAM160B2	8	21958395	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	11672712	21958395	124405627	51	27174											
ADAM7	8756	broad.mit.edu	37	chr8	24326281	24326281	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attttccctaactttacaggGcatccatgatgaaaagtatg	13	13	7	8	0	0	2	0	2	0	0	2	2	2	2	2	1	2	2	2	1	5	6			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:24326281G>A	ENST00000175238.6	+	7	664	c.579_splice	c.e7-1	p.G194_splice	ADAM7_ENST00000380789.1_Splice_Site_p.G194_splice|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	194					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTTTACAGGGCATCCATGAT	0.308													3	41					0	0	0	0	A	24326281	G	A	24326281	5	1	145	1	0	0	0	0	0	0	1	0	251	1217	42	4	607	4	ADAM7	8	24326281	Splice_Site	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	2367886	24326281	122037741	52	27175											
IKBKB	3551	broad.mit.edu	37	chr8	42176820	42176820	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccgaaacaacagctgcctctCcaaaatgaagaattccatgg	15	7	7	12	1	1	2	0	1	1	1	3	3	2	2	4	1	4	1	4	1	6	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:42176820C>G	ENST00000520810.1	+	14	1583	c.1397C>G	c.(1396-1398)tCc>tGc	p.S466C	IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.S243C|IKBKB_ENST00000520835.1_Missense_Mutation_p.S464C|IKBKB_ENST00000416505.2_Missense_Mutation_p.S407C	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	466	Leucine-zipper.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGCTGCCTCTCCAAAATGAAG	0.473											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	93					0	0	0	0	G	42176820	C	G	42176820	3	3	145	1	0	0	0	0	1	0	0	0	7664	855	30	2	1447	2	IKBKB	8	42176820	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	17850539	42176820	104187202	53	27176											
PAG1	55824	broad.mit.edu	37	chr8	81897257	81897257	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggggccctgggagctctttCgaggcagaagtagattttgc	7	11	15	8	1	1	2	0	0	1	2	2	4	1	3	1	4	2	3	1	4	2	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:81897257C>G	ENST00000220597.4	-	7	1340	c.630G>C	c.(628-630)tcG>tcC	p.S210S		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	210					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGAGCTCTTTCGAGGCAGAAG	0.488													23	49					0	0	0	0	G	81897257	C	G	81897257	2	3	145	1	0	0	0	0	0	0	0	1	11459	871	31	3		3	PAG1	8	81897257	Silent	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	39720437	81897257	64466765	54	27177											
UBR5	51366	broad.mit.edu	37	chr8	103301699	103301699	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctcttccacatctgctgaAacaatatcatcctgttcttc	10	14	3	14	0	4	1	1	1	3	0	7	1	6	1	3	0	2	2	3	0	3	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:103301699A>T	ENST00000520539.1	-	35	5301	c.4695T>A	c.(4693-4695)gtT>gtA	p.V1565V	UBR5_ENST00000521922.1_Silent_p.V1559V|UBR5_ENST00000519528.1_Intron|UBR5_ENST00000220959.4_Silent_p.V1565V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1565					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CATCTGCTGAAACAATATCAT	0.403													16	61					0	0	0	0	T	103301699	A	T	103301699	2	4	145	1	0	0	0	0	0	0	0	1	17001	1	1	5		5	UBR5	8	103301699	Silent	SNP	A	TCGA-CQ-6221-01A-11D-2078-08	21404442	103301699	43062323	55	27178											
EIF3E	3646	broad.mit.edu	37	chr8	109254111	109254111	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcactaagaaggtccaatTtaccttgtaataattccttt	13	16	4	8	0	1	1	1	0	0	1	3	1	3	1	3	1	1	1	3	1	7	9			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:109254111T>G	ENST00000220849.5	-	2	184	c.122A>C	c.(121-123)aAa>aCa	p.K41T	EIF3E_ENST00000519030.1_Intron	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	41	Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AAGGTCCAATTTACCTTGTAA	0.284													10	41					0	0	0	0	G	109254111	T	G	109254111	3	3	145	1	0	0	0	0	1	0	0	0	5053	1841	64	5	1263	5	EIF3E	8	109254111	Missense_Mutation	SNP	T	TCGA-CQ-6221-01A-11D-2078-08	5952412	109254111	37109911	56	27179											
OPLAH	26873	broad.mit.edu	37	chr8	145107094	145107094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctccaggatctcagggtCggtgatgcgtgtgttggtca	5	12	15	9	2	3	1	2	1	2	0	6	2	3	2	1	4	1	2	1	4	0	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:145107094C>A	ENST00000426825.1	-	24	3520	c.3439G>T	c.(3439-3441)Gac>Tac	p.D1147Y	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1147							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	ATCTCAGGGTCGGTGATGCGT	0.726													6	6					3.59834e-05	3.8465e-05	1	0	A	145107094	C	A	145107094	3	1	145	1	0	0	0	0	1	0	0	0	10947	884	31	3	445	3	OPLAH	8	145107094	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	35852983	145107094	1256928	57	27180											
ABCA2	20	broad.mit.edu	37	chr9	139907546	139907546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggggcgggcgagggtgggGgtggcacgaaattggacagt	8	6	22	5	3	0	0	0	0	0	0	0	3	0	1	0	8	0	1	0	8	1	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr9:139907546G>C	ENST00000265662.5	-	30	4922	c.4775C>G	c.(4774-4776)cCc>cGc	p.P1592R	ABCA2_ENST00000371605.3_Missense_Mutation_p.P1591R|ABCA2_ENST00000341511.6_Missense_Mutation_p.P1592R			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1591					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGAGGGTGGGGGTGGCACGAA	0.677													13	1					0	0	0	0	C	139907546	G	C	139907546	3	2	145	1	0	0	0	0	1	0	0	0	32	1232	43	4	2615	4	ABCA2	9	139907546	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08		139907546	1305885	58	27181											
CUBN	8029	broad.mit.edu	37	chr10	16873286	16873286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagatgatttcatatccaCgatcagaagttacactatca	14	12	5	10	1	3	3	3	1	0	2	5	4	5	3	2	0	1	1	2	0	4	4	rs143300012	byFrequency	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:16873286C>T	ENST00000377833.4	-	65	10558	c.10493G>A	c.(10492-10494)cGt>cAt	p.R3498H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3498	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCATATCCACGATCAGAAGT	0.393													20	24					0	0	0	0	T	16873286	C	T	16873286	3	4	145	1	0	0	0	0	1	0	0	0	4083	536	19	1	390	1	CUBN	10	16873286	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08		16873286	118661461	59	27182											
ARMC4	55130	broad.mit.edu	37	chr10	28272787	28272787	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacaccatttaaaaatacTcctcctgcactgcaagtaat	14	12	3	12	0	0	0	0	0	0	0	2	0	2	0	3	0	4	3	3	0	7	5			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:28272787T>A	ENST00000305242.5	-	6	896	c.804A>T	c.(802-804)ggA>ggT	p.G268G	ARMC4_ENST00000239715.3_Silent_p.G125G	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	268							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTAAAAATACTCCTCCTGCAC	0.433													12	26					0	0	0	0	A	28272787	T	A	28272787	2	1	145	1	0	0	0	0	0	0	0	1	957	1538	54	5		5	ARMC4	10	28272787	Silent	SNP	T	TCGA-CQ-6221-01A-11D-2078-08	11399501	28272787	107261960	60	27183											
CCDC7	221016	broad.mit.edu	37	chr10	32740540	32740540	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaataagtttttttcaTctgtaatttggaagccaagt	12	15	10	4	0	2	0	1	0	1	0	2	3	2	3	1	3	1	2	1	3	5	6			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:32740540T>A	ENST00000545067.1	+	0	266				CCDC7_ENST00000277657.6_De_novo_Start_InFrame|CCDC7_ENST00000362006.5_De_novo_Start_InFrame			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7											NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GTTTTTTTCATCTGTAATTTG	0.338													10	20					0	0	0	0	A	32740540	T	A	32740540	1	1	145	1	0	0	0	0	0	0	0	0	2869	1450	50	5		5	CCDC7	10	32740540	Translation_Start_Site	SNP	T	TCGA-CQ-6221-01A-11D-2078-08	4467753	32740540	102794207	61	27184											
OR13A1	79290	broad.mit.edu	37	chr10	45799323	45799323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggccacagaaatccaagCgcagcatcagccccgtgtgg	10	5	13	13	2	1	1	1	0	0	1	2	1	2	1	4	3	3	2	4	3	2	0	rs116633831	byFrequency	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:45799323C>G	ENST00000553795.1	-	4	856	c.548G>C	c.(547-549)cGc>cCc	p.R183P	OR13A1_ENST00000374401.2_Missense_Mutation_p.R183P|OR13A1_ENST00000536058.1_Missense_Mutation_p.R183P	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GAAATCCAAGCGCAGCATCAG	0.592													20	48					0	0	0	0	G	45799323	C	G	45799323	3	3	145	1	0	0	0	0	1	0	0	0	11004	768	27	3	442	3	OR13A1	10	45799323	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	13058783	45799323	89735424	62	27185											
MYPN	84665	broad.mit.edu	37	chr10	69881386	69881386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgaccttccagatctttCagcctttctgagccaagaag	11	11	8	11	0	3	5	1	2	2	3	4	5	4	5	4	0	2	0	4	0	2	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:69881386C>T	ENST00000358913.5	+	2	679	c.191C>T	c.(190-192)tCa>tTa	p.S64L	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.S64L|MYPN_ENST00000373675.3_Missense_Mutation_p.S64L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	64	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCAGATCTTTCAGCCTTTCTG	0.527													19	53					0	0	0	0	T	69881386	C	T	69881386	3	4	145	1	0	0	0	0	1	0	0	0	10168	838	29	2	193	2	MYPN	10	69881386	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	24082063	69881386	65653361	63	27186											
CALHM2	51063	broad.mit.edu	37	chr10	105207026	105207026	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggttctcacggtacaaGtagacgccggtgatggcatt	8	10	12	11	3	1	2	1	1	1	1	2	2	1	2	2	4	1	4	2	4	3	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:105207026G>C	ENST00000260743.5	-	4	1378	c.855C>G	c.(853-855)taC>taG	p.Y285*	CALHM2_ENST00000369788.3_Nonsense_Mutation_p.Y285*	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	285						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CACGGTACAAGTAGACGCCGG	0.617													19	43					0	0	0	0	C	105207026	G	C	105207026	4	2	145	1	0	0	0	0	0	1	0	0	2608	1024	36	4	120	4	CALHM2	10	105207026	Nonsense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	35325640	105207026	30327721	64	27187											
SPON1	10418	broad.mit.edu	37	chr11	14281008	14281008	+	RNA	DEL	C	C	-																															aggagtgctgtgagtgggggCcccgggcgggcaggcgggca																										TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:14281008delC	ENST00000310358.7	+	0	2198							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGAGTGGGGGCCCCGGGCGGG	0.672													2	4	---	---	---	---					-	14281008	C	-	14281008	6	5	145	0	1	1	0	1	0	0	0	0	15172	754	26	0		0	SPON1	11	14281008	RNA	DEL	C	TCGA-CQ-6221-01A-11D-2078-08		14281008	120725508	65	27188											
FIBIN	387758	broad.mit.edu	37	chr11	27016191	27016191	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcaccactacttcgtgcccGatggggactatgaggagaac	10	8	12	11	2	0	2	0	1	0	1	1	5	0	3	2	3	4	1	2	3	3	3	rs144159497		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:27016191G>C	ENST00000318627.2	+	1	564	c.118G>C	c.(118-120)Gat>Cat	p.D40H		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	40						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CTTCGTGCCCGATGGGGACTA	0.592													18	17					0	0	0	0	C	27016191	G	C	27016191	3	2	145	1	0	0	0	0	1	0	0	0	5930	1058	37	3	120	3	FIBIN	11	27016191	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	12735183	27016191	107990325	66	27189											
PDHX	8050	broad.mit.edu	37	chr11	34978997	34978997	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatagtagaagaaggagaaGattggaaacatgttgaaatt	18	10	12	1	0	0	6	0	2	0	4	0	8	0	7	0	2	1	2	0	2	7	5			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:34978997G>C	ENST00000448838.3	+	4	606	c.364G>C	c.(364-366)Gat>Cat	p.D122H	PDHX_ENST00000227868.4_Missense_Mutation_p.D137H|PDHX_ENST00000430469.2_Intron	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	137	Lipoyl-binding.				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			AGAAGGAGAAGATTGGAAACA	0.403													20	55					0	0	0	0	C	34978997	G	C	34978997	3	2	145	1	0	0	0	0	1	0	0	0	11738	942	33	2	542	2	PDHX	11	34978997	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	7962806	34978997	100027519	67	27190											
RAG1	5896	broad.mit.edu	37	chr11	36595094	36595094	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtcccaactcagccattGttaaaagcccaccctaagtt	12	9	5	15	0	1	0	1	0	0	0	2	0	2	0	5	0	3	2	5	0	4	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:36595094G>C	ENST00000299440.5	+	2	352	c.240G>C	c.(238-240)ttG>ttC	p.L80F		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	80	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CTCAGCCATTGTTAAAAGCCC	0.488									Familial Hemophagocytic Lymphohistiocytosis				17	108					0	0	0	0	C	36595094	G	C	36595094	3	2	145	1	0	0	0	0	1	0	0	0	13085	1368	48	4	242	4	RAG1	11	36595094	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	1616097	36595094	98411422	68	27191											
AHNAK	79026	broad.mit.edu	37	chr11	62291028	62291028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggagggtaacatcgacttCagggccttctcctttgaagc	9	10	12	10	1	2	1	1	1	1	0	4	3	2	2	2	3	2	1	2	3	2	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62291028C>T	ENST00000378024.4	-	5	11135	c.10861G>A	c.(10861-10863)Gaa>Aaa	p.E3621K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3621					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCGACTTCAGGGCCTTCT	0.483													78	81					0	0	0	0	T	62291028	C	T	62291028	3	4	145	1	0	0	0	0	1	0	0	0	414	835	29	2	6931	2	AHNAK	11	62291028	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	25695934	62291028	72715488	69	27192			1	37		7	7	8804	N	C	3.273965e-12
AHNAK	79026	broad.mit.edu	37	chr11	62291184	62291184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggccctttcagatccccttCaagtttgggaagagaaatat	11	12	9	9	0	2	2	2	0	0	2	3	4	3	3	3	2	0	1	3	2	4	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62291184C>T	ENST00000378024.4	-	5	10979	c.10705G>A	c.(10705-10707)Gaa>Aaa	p.E3569K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3569					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGATCCCCTTCAAGTTTGGGA	0.458													83	55					0	0	0	0	T	62291184	C	T	62291184	3	4	145	1	0	0	0	0	1	0	0	0	414	835	29	2	7087	2	AHNAK	11	62291184	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	156	62291184	72715332	70	27193			1	37		7	7	8804	N	C	3.273965e-12
AHNAK	79026	broad.mit.edu	37	chr11	62292529	62292529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatccacgtcaggaactttCatgtcaccttccacttttgg	9	14	6	12	1	3	0	3	0	0	0	5	1	5	1	3	2	1	0	3	2	2	5			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62292529C>T	ENST00000378024.4	-	5	9634	c.9360G>A	c.(9358-9360)atG>atA	p.M3120I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3120					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGGAACTTTCATGTCACCTT	0.468													92	99					0	0	0	0	T	62292529	C	T	62292529	3	4	145	1	0	0	0	0	1	0	0	0	414	826	29	2	8432	2	AHNAK	11	62292529	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	1345	62292529	72713987	71	27194			1	37		7	7	8804	N	C	3.273965e-12
AHNAK	79026	broad.mit.edu	37	chr11	62292958	62292958	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaatatccacatcgcccttCaccttgggacctttcagatg	10	11	7	13	1	2	1	2	0	0	1	4	3	3	2	4	1	0	0	4	1	2	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62292958C>T	ENST00000378024.4	-	5	9205	c.8931G>A	c.(8929-8931)gtG>gtA	p.V2977V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2977					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCGCCCTTCACCTTGGGAC	0.507													66	67					0	0	0	0	T	62292958	C	T	62292958	2	4	145	1	0	0	0	0	0	0	0	1	414	813	29	2		2	AHNAK	11	62292958	Silent	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	429	62292958	72713558	72	27195			1	37		7	7	8804	N	C	3.273965e-12
AHNAK	79026	broad.mit.edu	37	chr11	62294979	62294979	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggtcttgaagtgcatctCaggcatcttaaacttggggc	8	11	14	8	0	3	1	1	1	3	0	4	1	3	1	0	5	2	2	0	5	3	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62294979C>G	ENST00000378024.4	-	5	7184	c.6910G>C	c.(6910-6912)Gag>Cag	p.E2304Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2304					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTGCATCTCAGGCATCTTA	0.478													80	87					0	0	0	0	G	62294979	C	G	62294979	3	3	145	1	0	0	0	0	1	0	0	0	414	835	29	2	10882	2	AHNAK	11	62294979	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	2021	62294979	72711537	73	27196			1	37		7	7	8804	N	C	3.273965e-12
AHNAK	79026	broad.mit.edu	37	chr11	62296638	62296638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatatccaaatcaggagcatCagtgtccacactgggtccag	13	8	9	11	0	2	0	2	0	0	0	5	1	5	1	3	2	1	1	3	2	3	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62296638C>T	ENST00000378024.4	-	5	5525	c.5251G>A	c.(5251-5253)Gat>Aat	p.D1751N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1751					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGAGCATCAGTGTCCACA	0.483													76	62					0	0	0	0	T	62296638	C	T	62296638	3	4	145	1	0	0	0	0	1	0	0	0	414	826	29	2	12541	2	AHNAK	11	62296638	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	1659	62296638	72709878	74	27197			1	37		7	7	8804	N	C	3.273965e-12
AHNAK	79026	broad.mit.edu	37	chr11	62299831	62299831	+	Frame_Shift_Del	DEL	C	C	-																															ttgacactcatatcaggcagCttaacatcggggcctttaag																										TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62299831delC	ENST00000378024.4	-	5	2332	c.2058delG	c.(2056-2058)aafs	p.K686fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	686					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TATCAGGCAGCTTAACATCGG	0.473													18	78	---	---	---	---					-	62299831	C	-	62299831	7	5	145	1	0	1	0	1	0	0	0	0	414	796	28	0	15734	0	AHNAK	11	62299831	Frame_Shift_Del	DEL	C	TCGA-CQ-6221-01A-11D-2078-08	3193	62299831	72706685	75	27198			1	37		7	7	8804	N	C	3.273965e-12
FAT3	120114	broad.mit.edu	37	chr11	92523229	92523229	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgcagattgaagccacaGatagagatgagaagcacaag	16	6	11	8	0	0	5	0	2	0	4	1	7	1	5	2	0	3	2	2	0	4	2			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:92523229G>C	ENST00000298047.6	+	7	4473	c.4456G>C	c.(4456-4458)Gat>Cat	p.D1486H	FAT3_ENST00000525166.1_Missense_Mutation_p.D1336H|FAT3_ENST00000409404.2_Missense_Mutation_p.D1486H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1486	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAGCCACAGATAGAGATGA	0.468										TCGA Ovarian(4;0.039)			41	44					0	0	0	0	C	92523229	G	C	92523229	3	2	145	1	0	0	0	0	1	0	0	0	5736	942	33	2	4482	2	FAT3	11	92523229	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	30223398	92523229	42483287	76	27199											
SLC6A13	6540	broad.mit.edu	37	chr12	332337	332337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggactcgaagatggccaCgaacaggaggcacatgccac	13	3	14	11	2	0	1	0	0	0	1	1	6	0	3	2	4	2	1	2	4	2	0	rs145396701	by1000genomes	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:332337C>A	ENST00000343164.4	-	12	1427	c.1375G>T	c.(1375-1377)Gtg>Ttg	p.V459L	SLC6A13_ENST00000445055.2_Missense_Mutation_p.V367L|SLC6A13_ENST00000539668.1_5'UTR	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	459					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AAGATGGCCACGAACAGGAGG	0.522													7	22					7.48243e-07	8.22536e-07	1	0	A	332337	C	A	332337	3	1	145	1	0	0	0	0	1	0	0	0	14764	536	19	3	449	3	SLC6A13	12	332337	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08		332337	133519558	77	27200											
NINJ2	4815	broad.mit.edu	37	chr12	675268	675268	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacagggccacgtccagcAtgctctccgccacgctcttc	7	8	9	17	3	2	1	0	1	2	0	5	1	3	1	4	1	3	3	4	1	1	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:675268A>G	ENST00000305108.4	-	2	528	c.248T>C	c.(247-249)aTg>aCg	p.M83T	NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000397265.3_Missense_Mutation_p.M30T|NINJ2_ENST00000542920.1_Start_Codon_SNP_p.M1T|NINJ2_ENST00000433832.2_Start_Codon_SNP_p.M1T	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	37					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CACGTCCAGCATGCTCTCCGC	0.602													11	34					0	0	0	0	G	675268	A	G	675268	3	3	145	1	0	0	0	0	1	0	0	0	10489	217	8	5	326	5	NINJ2	12	675268	Missense_Mutation	SNP	A	TCGA-CQ-6221-01A-11D-2078-08	342931	675268	133176627	78	27201											
LALBA	3906	broad.mit.edu	37	chr12	48962875	48962875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctactcactgtcacaggaGatgtcacagatgttccttga	10	11	10	10	0	3	3	3	1	0	2	4	4	4	3	1	2	1	2	1	2	1	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:48962875G>C	ENST00000549817.1	-	2	327	c.282C>G	c.(280-282)atC>atG	p.I94M	LALBA_ENST00000301046.2_Missense_Mutation_p.I94M			P00709	LALBA_HUMAN	lactalbumin, alpha-	94					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						TGTCACAGGAGATGTCACAGA	0.468													19	76					0	0	0	0	C	48962875	G	C	48962875	3	2	145	1	0	0	0	0	1	0	0	0	8657	932	33	2	158	2	LALBA	12	48962875	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	48287607	48962875	84889020	79	27202											
METTL1	4234	broad.mit.edu	37	chr12	58162860	58162879	+	Frame_Shift_Del	DEL	CTTCCCTCCATTACGTAGAA	CTTCCCTCCATTACGTAGAA	-																															cggaagatggctgggaaattCttccctccattacgtagaac																								rs140194153	byFrequency	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:58162860_58162879delCTTCCCTCCATTACGTAGAA	ENST00000324871.7	-	6	1440_1459	c.731_750delTTCTACGTAATGGAGGGAAG	c.(730-750)gfs	p.VLRNGGK244fs	METTL1_ENST00000257848.7_3'UTR	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	methyltransferase like 1	244						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			CTGGGAAATTCTTCCCTCCATTACGTAGAACTTTCTTCCC	0.527													11	39	---	---	---	---					-	58162879	CTTCCCTCCATTACGTAGAA	-	58162860	7	5	145	1	0	1	0	1	0	0	0	0	9562	912	32	0	84	0	METTL1	12	58162860	Frame_Shift_Del	DEL	CTTCCCTCCATTACGTAGAA	TCGA-CQ-6221-01A-11D-2078-08	9199985	58162860	75689035	80	27203											
OAS2	4939	broad.mit.edu	37	chr12	113442855	113442855	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgagcggcacaaaatcgtCaaggaaatccatgaacagct	17	5	9	10	3	1	1	1	1	0	0	3	3	2	2	1	2	4	2	1	2	6	0			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:113442855C>A	ENST00000392583.2	+	7	1503	c.1296C>A	c.(1294-1296)gtC>gtA	p.V432V	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.V432V	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	432	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ACAAAATCGTCAAGGAAATCC	0.507													4	27					0.00024832	0.000260065	1	0	A	113442855	C	A	113442855	2	1	145	1	0	0	0	0	0	0	0	1	10871	813	29	2		2	OAS2	12	113442855	Silent	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	55279995	113442855	20409040	81	27204											
NOS1	4842	broad.mit.edu	37	chr12	117703229	117703230	+	Frame_Shift_Ins	INS	-	-	C																															acacccagtcggcagggcagINScccccccggcagcggtactc																										TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:117703229_117703230insC	ENST00000317775.6	-	12	2712_2713	c.2027_2028insG	c.(2026-2028)gtgfs	p.V676fs	NOS1_ENST00000338101.4_Frame_Shift_Ins_p.V676fs|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	676					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CGGCAGGGCAGCCCCCCCGGCA	0.604													10	9	---	---	---	---					C	117703230	-	C	117703229	7	5	145	1	0	1	1	0	0	0	0	0	10611	958	34	0	2348	0	NOS1	12	117703229	Frame_Shift_Ins	INS	-	TCGA-CQ-6221-01A-11D-2078-08	4260374	117703229	16148666	82	27205											
BRCA2	675	broad.mit.edu	37	chr13	32903578	32903578	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacataaatttttatcttacAgtcagaaatgaagaagcatc	17	12	5	7	0	2	3	1	1	1	2	3	3	2	3	0	0	2	1	0	0	7	5			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr13:32903578A>C	ENST00000544455.1	+	8	858		c.e8-1		BRCA2_ENST00000380152.3_Splice_Site	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset						cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.?(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTTATCTTACAGTCAGAAATG	0.284			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			5	2					0	0	0	0	C	32903578	A	C	32903578	5	2	145	1	0	0	0	0	0	0	1	0	1507	202	7	5	656	5	BRCA2	13	32903578	Splice_Site	SNP	A	TCGA-CQ-6221-01A-11D-2078-08		32903578	82266300	83	27206											
UTP14C	9724	broad.mit.edu	37	chr13	52603224	52603229	+	In_Frame_Del	DEL	CTTCAT	CTTCAT	-																															tctgcttgagcccgttaaaaCttcatcttctttggccactg																										TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr13:52603224_52603229delCTTCAT	ENST00000521776.2	+	2	1017_1022	c.284_289delCTTCAT	c.(283-291)act>a	p.TSS95del	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	95					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CCCGTTAAAACTTCATCTTCTTTGGC	0.427													9	112	---	---	---	---					-	52603229	CTTCAT	-	52603224	7	5	145	1	0	1	0	1	0	0	0	0	17192	565	20	0	286	0	UTP14C	13	52603224	In_Frame_Del	DEL	CTTCAT	TCGA-CQ-6221-01A-11D-2078-08	19699646	52603224	62566654	84	27207											
PCDH8	5100	broad.mit.edu	37	chr13	53419750	53419750	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggctcctttccaaaaccCggggaggcaccgtagggctg	7	6	14	14	3	0	0	0	0	0	0	2	1	2	1	5	5	1	4	5	5	3	2			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr13:53419750C>T	ENST00000377942.3	-	2	2852	c.2649G>A	c.(2647-2649)ccG>ccA	p.P883P	PCDH8_ENST00000338862.4_Silent_p.P786P	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	883					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTCCAAAACCCGGGGAGGCAC	0.557													4	32					0	0	0	0	T	53419750	C	T	53419750	2	4	145	1	0	0	0	0	0	0	0	1	11588	639	23	1		1	PCDH8	13	53419750	Silent	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	816526	53419750	61750128	85	27208											
GPC5	2262	broad.mit.edu	37	chr13	92051386	92051386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcagcgagggcgtgcagaCctgcgaagaagttcggaaac	11	4	15	11	5	0	2	0	0	0	2	1	5	0	3	2	2	4	3	2	2	3	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr13:92051386C>T	ENST00000377067.3	+	1	458	c.86C>T	c.(85-87)aCc>aTc	p.T29I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	29						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGCGTGCAGACCTGCGAAGAA	0.672													14	5					0	0	0	0	T	92051386	C	T	92051386	3	4	145	1	0	0	0	0	1	0	0	0	6650	507	18	4	88	4	GPC5	13	92051386	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	38631636	92051386	23118492	86	27209											
SLC22A17	51310	broad.mit.edu	37	chr14	23821365	23821365	+	Frame_Shift_Del	DEL	A	A	-																															agccagaggcattaggggggAaggccccgtagtggcaatgc																										TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr14:23821365delA	ENST00000354772.3	-	2	562	c.59delT	c.(58-60)tcfs	p.F20fs	SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_5'UTR|SLC22A17_ENST00000397267.1_Frame_Shift_Del_p.F20fs|SLC22A17_ENST00000206544.8_Frame_Shift_Del_p.F20fs	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	20					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ATTAGGGGGGAAGGCCCCGTA	0.711													2	4	---	---	---	---					-	23821365	A	-	23821365	7	5	145	1	0	1	0	1	0	0	0	0	14536	246	9	0	1593	0	SLC22A17	14	23821365	Frame_Shift_Del	DEL	A	TCGA-CQ-6221-01A-11D-2078-08		23821365	83528175	87	27210											
SPG11	80208	broad.mit.edu	37	chr15	44862786	44862786	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcatgtgggcggcctgtagGactcggatgatgccctccat	7	9	14	11	2	0	1	0	1	0	0	2	3	1	3	3	4	2	2	3	4	1	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:44862786G>A	ENST00000261866.7	-	34	6430	c.6414C>T	c.(6412-6414)gtC>gtT	p.V2138V	SPG11_ENST00000427534.2_Silent_p.V2138V|SPG11_ENST00000535302.2_Silent_p.V2025V	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2138					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CGGCCTGTAGGACTCGGATGA	0.592													4	20					0	0	0	0	A	44862786	G	A	44862786	2	1	145	1	0	0	0	0	0	0	0	1	15131	1161	41	2		2	SPG11	15	44862786	Silent	SNP	G	TCGA-CQ-6221-01A-11D-2078-08		44862786	57668606	88	27211											
SEMA6D	80031	broad.mit.edu	37	chr15	48060877	48060877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctaaactgacaagctctcGgaaatttgtagttcaagatg	14	11	8	8	1	2	2	1	1	1	1	3	3	2	3	1	1	2	3	1	1	6	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:48060877G>A	ENST00000316364.5	+	18	2304	c.1865G>A	c.(1864-1866)cGg>cAg	p.R622Q	SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R622Q|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R603Q	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	622					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.R622L(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACAAGCTCTCGGAAATTTGTA	0.428													13	60					0	0	0	0	A	48060877	G	A	48060877	3	1	145	1	0	0	0	0	1	0	0	0	14129	1116	39	1	1974	1	SEMA6D	15	48060877	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	3198091	48060877	54470515	89	27212											
TEX9	374618	broad.mit.edu	37	chr15	56719843	56719843	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaaaaattgaagtgttaaAatcagaaaacaagaagctag	23	7	7	4	0	1	3	1	1	0	2	1	3	1	3	0	0	2	2	0	0	11	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:56719843A>T	ENST00000537232.1	+	11	1240	c.779A>T	c.(778-780)aAa>aTa	p.K260I	MNS1_ENST00000566386.1_Intron|TEX9_ENST00000352903.2_Missense_Mutation_p.K335I|TEX9_ENST00000560582.1_Intron			Q8N6V9	TEX9_HUMAN	testis expressed 9	335										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GAAGTGTTAAAATCAGAAAAC	0.279													10	42					0	0	0	0	T	56719843	A	T	56719843	3	4	145	1	0	0	0	0	1	0	0	0	15878	14	1	5	1046	5	TEX9	15	56719843	Missense_Mutation	SNP	A	TCGA-CQ-6221-01A-11D-2078-08	8658966	56719843	45811549	90	27213											
ALDH1A2	8854	broad.mit.edu	37	chr15	58306120	58306120	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaacagacgtcccctttctGaagcatccatccttctccac	9	10	4	18	1	2	2	0	1	2	1	6	2	5	2	6	0	2	1	6	0	2	2			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:58306120G>C	ENST00000249750.4	-	3	1066	c.299C>G	c.(298-300)tCa>tGa	p.S100*	ALDH1A2_ENST00000559517.1_Nonsense_Mutation_p.S4*|ALDH1A2_ENST00000558231.1_Nonsense_Mutation_p.S71*|ALDH1A2_ENST00000537372.1_Nonsense_Mutation_p.S79*|ALDH1A2_ENST00000347587.3_Nonsense_Mutation_p.S100*	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	100					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TCCCCTTTCTGAAGCATCCAT	0.488													47	149					0	0	0	0	C	58306120	G	C	58306120	4	2	145	1	0	0	0	0	0	1	0	0	491	1294	45	2	1301	2	ALDH1A2	15	58306120	Nonsense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	1586277	58306120	44225272	91	27214											
CSNK1G1	53944	broad.mit.edu	37	chr15	64495283	64495283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaggatcaacacatacctGatttcgaagaggctgctgtt	11	11	11	8	1	1	2	1	1	0	1	2	5	1	4	1	3	3	3	1	3	3	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:64495283G>C	ENST00000303052.7	-	10	1528	c.1105C>G	c.(1105-1107)Cag>Gag	p.Q369E	CSNK1G1_ENST00000303032.6_Missense_Mutation_p.Q369E|CSNK1G1_ENST00000607537.1_Missense_Mutation_p.Q369E|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.Q351E	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	369					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						ACACATACCTGATTTCGAAGA	0.443													6	10					0	0	0	0	C	64495283	G	C	64495283	3	2	145	1	0	0	0	0	1	0	0	0	3986	1299	45	2	175	2	CSNK1G1	15	64495283	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	6189163	64495283	38036109	92	27215											
AEN	64782	broad.mit.edu	37	chr15	89169569	89169569	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caccagcggttcatggcccgGaaggccttgctgcaggagca	8	6	14	13	2	1	0	1	0	0	0	1	2	1	2	3	5	4	4	3	5	1	2			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:89169569G>A	ENST00000332810.3	+	2	280	c.129G>A	c.(127-129)cgG>cgA	p.R43R	AEN_ENST00000379231.3_Silent_p.R43R	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	43					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						TCATGGCCCGGAAGGCCTTGC	0.627													22	5					0	0	0	0	A	89169569	G	A	89169569	2	1	145	1	0	0	0	0	0	0	0	1	351	1161	41	2		2	AEN	15	89169569	Silent	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	24674286	89169569	13361823	93	27216											
SEMA4B	10509	broad.mit.edu	37	chr15	90771754	90771754	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agacagccccccggggtcccGagtcttcactgagtcagaga	9	6	12	14	2	3	3	2	1	1	2	4	5	4	3	4	2	1	0	4	2	0	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:90771754G>C	ENST00000411539.2	+	14	2653	c.2393G>C	c.(2392-2394)cGa>cCa	p.R798P	SEMA4B_ENST00000332496.6_Missense_Mutation_p.R798P|SEMA4B_ENST00000379122.3_Intron	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCGGGGTCCCGAGTCTTCACT	0.677													10	12					0	0	0	0	C	90771754	G	C	90771754	3	2	145	1	0	0	0	0	1	0	0	0	14119	1058	37	3	2447	3	SEMA4B	15	90771754	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	1602185	90771754	11759638	94	27217											
ABCA3	21	broad.mit.edu	37	chr16	2333284	2333284	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatgaggtaggcgcaccctGaggcggccatggaggccaca	9	4	17	11	2	0	2	0	2	0	0	0	4	0	4	3	7	0	2	3	7	1	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:2333284G>C	ENST00000301732.5	-	26	4638	c.3938C>G	c.(3937-3939)tCa>tGa	p.S1313*	ABCA3_ENST00000382381.3_Nonsense_Mutation_p.S1255*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1313					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGCGCACCCTGAGGCGGCCAT	0.647													12	27					0	0	0	0	C	2333284	G	C	2333284	4	2	145	1	0	0	0	0	0	1	0	0	33	1294	45	2	1208	2	ABCA3	16	2333284	Nonsense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08		2333284	88021469	95	27218											
ACSM1	116285	broad.mit.edu	37	chr16	20673130	20673130	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatacctggtgaaatcctgCtgcagaatcattcgatatat	12	12	7	10	1	1	2	1	1	0	1	3	3	2	2	3	1	3	2	3	1	5	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:20673130C>T	ENST00000307493.4	-	6	1045	c.978G>A	c.(976-978)caG>caA	p.Q326Q	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.Q326Q	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	326					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGAAATCCTGCTGCAGAATCA	0.368													18	26					0	0	0	0	T	20673130	C	T	20673130	2	4	145	1	0	0	0	0	0	0	0	1	182	796	28	4		4	ACSM1	16	20673130	Silent	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	18339846	20673130	69681623	96	27219											
DNAH3	55567	broad.mit.edu	37	chr16	21086866	21086878	+	Frame_Shift_Del	DEL	CACCAATGGGCTC	CACCAATGGGCTC	-																															gtattccttgctggcagctgCaccaatgggctccaatctaa																										TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:21086866_21086878delCACCAATGGGCTC	ENST00000261383.3	-	21	2973_2985	c.2974_2986delGAGCCCATTGGTG	c.(2974-2988)cafs	p.EPIGA992fs	DNAH3_ENST00000415178.1_Frame_Shift_Del_p.EPIGA992fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	992	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.I994T(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGGCAGCTGCACCAATGGGCTCCAATCTAAAG	0.479													8	28	---	---	---	---					-	21086878	CACCAATGGGCTC	-	21086866	7	5	145	1	0	1	0	1	0	0	0	0	4640	710	25	0	9531	0	DNAH3	16	21086866	Frame_Shift_Del	DEL	CACCAATGGGCTC	TCGA-CQ-6221-01A-11D-2078-08	413736	21086866	69267887	97	27220											
ITGAX	3687	broad.mit.edu	37	chr16	31374532	31374532	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctacggggagcagggccAcccctggggtcgctttgggg	4	8	17	12	2	1	0	0	0	1	0	3	1	1	1	3	7	2	2	3	7	1	2			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:31374532A>T	ENST00000268296.4	+	14	1668	c.1547A>T	c.(1546-1548)cAc>cTc	p.H516L	ITGAX_ENST00000562522.1_Missense_Mutation_p.H516L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	516					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GAGCAGGGCCACCCCTGGGGT	0.632													19	80					0	0	0	0	T	31374532	A	T	31374532	3	4	145	1	0	0	0	0	1	0	0	0	7942	159	6	5	1601	5	ITGAX	16	31374532	Missense_Mutation	SNP	A	TCGA-CQ-6221-01A-11D-2078-08	10287666	31374532	58980221	98	27221											
ZNF319	57567	broad.mit.edu	37	chr16	58031375	58031375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagcggtgcttgaaggtCttctcgcagactgcgcactt	7	11	13	10	3	2	3	0	2	2	2	3	4	2	3	0	2	3	3	0	2	1	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:58031375C>A	ENST00000299237.2	-	2	1417	c.795G>T	c.(793-795)aaG>aaT	p.K265N		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCTTGAAGGTCTTCTCGCAGA	0.612													9	37					3.09899e-07	3.43102e-07	1	0	A	58031375	C	A	58031375	3	1	145	1	0	0	0	0	1	0	0	0	17932	912	32	2	957	2	ZNF319	16	58031375	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	26656843	58031375	32323378	99	27222											
TERF2	7014	broad.mit.edu	37	chr16	69400835	69400843	+	In_Frame_Del	DEL	GACCAATCT	GACCAATCT	-																															ctctggctgtcctcctccaaGaccaatctgcttattgtcat																										TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:69400835_69400843delGACCAATCT	ENST00000254942.3	-	7	1223_1231	c.1207_1215delAGATTGGTC	c.(1207-1215)del	p.RLV403del	TERF2_ENST00000603068.1_In_Frame_Del_p.RLV361del	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	361					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CCTCCTCCAAGACCAATCTGCTTATTGTC	0.569													11	27	---	---	---	---					-	69400843	GACCAATCT	-	69400835	7	5	145	1	0	1	0	1	0	0	0	0	15856	929	33	0	429	0	TERF2	16	69400835	In_Frame_Del	DEL	GACCAATCT	TCGA-CQ-6221-01A-11D-2078-08	11369460	69400835	20953918	100	27223											
HYDIN	54768	broad.mit.edu	37	chr16	70843707	70843707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcagtagtattctgtcctCtgccgtgtgtaattgatgaa	8	15	10	8	1	2	2	0	2	2	0	3	2	3	2	2	0	2	4	2	0	4	5			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:70843707C>G	ENST00000393567.2	-	85	15012	c.14862G>C	c.(14860-14862)caG>caC	p.Q4954H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4954										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTCTGTCCTCTGCCGTGTGT	0.517													58	94					0	0	0	0	G	70843707	C	G	70843707	3	3	145	1	0	0	0	0	1	0	0	0	7520	912	32	2	511	2	HYDIN	16	70843707	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	1442872	70843707	19511046	101	27224											
TP53	7157	broad.mit.edu	37	chr17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggacaggcacaaacacgcaCctcaaagctgttccgtccca	13	5	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs121912657		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:7577124C>T	ENST00000420246.2	-	8	946	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000269305.4_Missense_Mutation_p.V272M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAACACGCACCTCAAAGCTG	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	8					0	0	0	0	T	7577124	C	T	7577124	3	4	145	1	0	0	0	0	1	0	0	0	16476	507	18	4	472	4	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08		7577124	73618086	102	27225											
ALOXE3	59344	broad.mit.edu	37	chr17	8017844	8017844	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgagatcgtcttggtggctGagtatcgaacattgggctcc	7	11	14	9	3	1	2	0	1	1	1	4	4	2	2	1	3	1	3	1	3	2	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:8017844G>C	ENST00000380149.1	-	5	1136	c.1106C>G	c.(1105-1107)tCa>tGa	p.S369*	ALOXE3_ENST00000448843.2_Nonsense_Mutation_p.S213*|ALOXE3_ENST00000318227.3_Nonsense_Mutation_p.S345*			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	213	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTTGGTGGCTGAGTATCGAAC	0.552													21	44					0	0	0	0	C	8017844	G	C	8017844	4	2	145	1	0	0	0	0	0	1	0	0	542	1294	45	2	1541	2	ALOXE3	17	8017844	Nonsense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	440720	8017844	73177366	103	27226											
MYOCD	93649	broad.mit.edu	37	chr17	12655998	12655998	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccccagcctcctctgacCtgtcagtcgctgggtccctg	3	11	9	18	1	3	1	1	1	2	0	7	1	5	1	6	1	1	1	6	1	0	0			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:12655998C>T	ENST00000425538.1	+	10	1593	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	MYOCD_ENST00000395988.1_Silent_p.L369L|MYOCD_ENST00000343344.4_Silent_p.L465L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	465	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTCCTCTGACCTGTCAGTCGC	0.612													18	79					0	0	0	0	T	12655998	C	T	12655998	2	4	145	1	0	0	0	0	0	0	0	1	10157	680	24	4		4	MYOCD	17	12655998	Silent	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	4638154	12655998	68539212	104	27227											
ULK2	9706	broad.mit.edu	37	chr17	19698941	19698941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacatttttcttacctatatCcattggtcgttctgtattta	8	21	4	8	1	2	0	0	0	2	0	4	0	3	0	2	1	2	2	2	1	6	11			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:19698941C>G	ENST00000395544.4	-	20	2594	c.2095G>C	c.(2095-2097)Gat>Cat	p.D699H	ULK2_ENST00000361658.2_Missense_Mutation_p.D699H	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	699					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TTACCTATATCCATTGGTCGT	0.383													43	65					0	0	0	0	G	19698941	C	G	19698941	3	3	145	1	0	0	0	0	1	0	0	0	17072	855	30	2	1047	2	ULK2	17	19698941	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	7042943	19698941	61496269	105	27228											
ULK2	9706	broad.mit.edu	37	chr17	19699443	19699443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctctgctgctcggcccgCtgcctctcacttccttgcac	2	13	8	18	2	2	0	1	0	2	0	5	0	3	0	3	1	5	5	3	1	0	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:19699443C>T	ENST00000395544.4	-	19	2461	c.1962G>A	c.(1960-1962)caG>caA	p.Q654Q	ULK2_ENST00000361658.2_Silent_p.Q654Q	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	654					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GCTCGGCCCGCTGCCTCTCAC	0.473													37	47					0	0	0	0	T	19699443	C	T	19699443	2	4	145	1	0	0	0	0	0	0	0	1	17072	796	28	4		4	ULK2	17	19699443	Silent	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	502	19699443	61495767	106	27229											
DHRS13	147015	broad.mit.edu	37	chr17	27228113	27228113	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcagcatatgcccgcagctCctgccgccagcccaccactg	7	6	9	19	2	1	0	1	0	0	0	2	0	2	0	6	0	5	3	6	0	1	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:27228113C>A	ENST00000394901.3	-	3	819	c.427G>T	c.(427-429)Gag>Tag	p.E143*	DHRS13_ENST00000426464.2_Nonsense_Mutation_p.E112*|DHRS13_ENST00000378895.4_Nonsense_Mutation_p.E193*			Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	193						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCCCGCAGCTCCTGCCGCCAG	0.632													18	39					4.35082e-09	4.92246e-09	1	0	A	27228113	C	A	27228113	4	1	145	1	0	0	0	0	0	1	0	0	4526	864	30	2	564	2	DHRS13	17	27228113	Nonsense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	7528670	27228113	53967097	107	27230											
DDX52	11056	broad.mit.edu	37	chr17	35986901	35986901	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgatttggagtagtcacaaGaatatctataggaaaaacaa	18	10	8	5	1	2	1	1	0	1	1	3	4	2	3	0	2	1	1	0	2	9	5			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:35986901G>C	ENST00000349699.2	-	7	908	c.865C>G	c.(865-867)Ctt>Gtt	p.L289V	DDX52_ENST00000394367.3_Missense_Mutation_p.L181V	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	289	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GTAGTCACAAGAATATCTATA	0.358													9	34					0	0	0	0	C	35986901	G	C	35986901	3	2	145	1	0	0	0	0	1	0	0	0	4402	942	33	2	970	2	DDX52	17	35986901	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	8758788	35986901	45208309	108	27231											
ZPBP2	124626	broad.mit.edu	37	chr17	38032946	38032946	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctctgcagtggtttgtagtCctgcgacttttagtcctgat	5	16	10	10	1	1	1	0	1	1	0	3	2	3	1	3	1	2	3	3	1	2	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:38032946C>G	ENST00000377940.3	+	7	974	c.835C>G	c.(835-837)Cct>Gct	p.P279A	ZPBP2_ENST00000348931.4_Missense_Mutation_p.P301A|ZPBP2_ENST00000584588.1_Missense_Mutation_p.P228A	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	301					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGTTTGTAGTCCTGCGACTTT	0.373													24	89					0	0	0	0	G	38032946	C	G	38032946	3	3	145	1	0	0	0	0	1	0	0	0	18313	855	30	2	931	2	ZPBP2	17	38032946	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	2046045	38032946	43162264	109	27232											
KRT10	3858	broad.mit.edu	37	chr17	38976763	38976763	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtataacttttgtgtcacCtcctcgtggttcttcttcag	7	17	7	10	1	4	0	2	0	2	0	6	0	5	0	2	1	1	2	2	1	3	7			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:38976763C>G	ENST00000269576.5	-	3	876	c.867_splice	c.e3+1	p.E289_splice	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	289	Coil 1B.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TTTGTGTCACCTCCTCGTGGT	0.468													9	67					0	0	0	0	G	38976763	C	G	38976763	5	3	145	1	0	0	0	0	0	0	1	0	8500	695	24	4	911	4	KRT10	17	38976763	Splice_Site	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	943817	38976763	42218447	110	27233											
FZD2	2535	broad.mit.edu	37	chr17	42636331	42636331	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgctcttcgtgtacctgttCatcggcacgtccttcctcct	3	14	7	17	4	2	0	1	0	1	0	7	0	5	0	5	1	1	4	5	1	1	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:42636331C>G	ENST00000315323.3	+	1	1407	c.1275C>G	c.(1273-1275)ttC>ttG	p.F425L		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	425					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGTACCTGTTCATCGGCACGT	0.637													12	51					0	0	0	0	G	42636331	C	G	42636331	3	3	145	1	0	0	0	0	1	0	0	0	6178	825	29	2	1277	2	FZD2	17	42636331	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	3659568	42636331	38558879	111	27234											
INTS2	57508	broad.mit.edu	37	chr17	59962319	59962319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaatttgataggaatctGatccattaaagaagaagaat	19	10	9	3	0	1	5	0	2	1	3	2	7	2	7	1	2	0	0	1	2	9	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:59962319G>C	ENST00000444766.3	-	16	2131	c.2056C>G	c.(2056-2058)Cag>Gag	p.Q686E	INTS2_ENST00000251334.6_Missense_Mutation_p.Q678E	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	686					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATAGGAATCTGATCCATTAAA	0.333													7	7					0	0	0	0	C	59962319	G	C	59962319	3	2	145	1	0	0	0	0	1	0	0	0	7831	1299	45	2	1598	2	INTS2	17	59962319	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	17325988	59962319	21232891	112	27235											
SGSH	6448	broad.mit.edu	37	chr17	78184560	78184560	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgagacgtagaagtcCtggtcgatgggaaagggcat	10	8	18	5	2	0	2	0	1	0	2	2	5	1	3	1	4	0	2	1	4	3	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:78184560C>T	ENST00000326317.6	-	8	1286	c.1200G>A	c.(1198-1200)caG>caA	p.Q400Q	SGSH_ENST00000534910.1_Silent_p.Q197Q	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	400					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGTAGAAGTCCTGGTCGATGG	0.602													25	46					0	0	0	0	T	78184560	C	T	78184560	2	4	145	1	0	0	0	0	0	0	0	1	14308	680	24	4		4	SGSH	17	78184560	Silent	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	18222241	78184560	3010650	113	27236											
FBN3	84467	broad.mit.edu	37	chr19	8154783	8154783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaggggctcaccttctCgggagtcatccgggcctggg	4	8	18	11	2	3	1	2	1	1	0	5	2	4	2	3	6	0	1	3	6	0	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:8154783C>A	ENST00000600128.1	-	50	6659	c.6245G>T	c.(6244-6246)cGa>cTa	p.R2082L	FBN3_ENST00000270509.2_Missense_Mutation_p.R2082L|FBN3_ENST00000601739.1_Missense_Mutation_p.R2082L			Q75N90	FBN3_HUMAN	fibrillin 3	2082						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTCACCTTCTCGGGAGTCATC	0.647													5	3					1.23904e-05	1.34302e-05	1	0	A	8154783	C	A	8154783	3	1	145	1	0	0	0	0	1	0	0	0	5749	884	31	3	2244	3	FBN3	19	8154783	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08		8154783	50974200	114	27237											
CACNA1A	773	broad.mit.edu	37	chr19	13409899	13409899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcggcgcgctgctggcCgaggcgctggtccacggtgg	2	7	18	14	6	0	0	0	0	0	0	3	1	2	0	3	6	1	3	3	6	0	0			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:13409899C>T	ENST00000360228.5	-	19	2547	c.2548G>A	c.(2548-2550)Ggc>Agc	p.G850S	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G851S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	851					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.G851C(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGCTGCTGGCCGAGGCGCTGG	0.721													10	10					0	0	0	0	T	13409899	C	T	13409899	3	4	145	1	0	0	0	0	1	0	0	0	2563	652	23	1	5190	1	CACNA1A	19	13409899	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	5255116	13409899	45719084	115	27238											
BRD4	23476	broad.mit.edu	37	chr19	15355574	15355574	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgacttcggagccatctCtgcagaggaaaagagaaggt	12	10	12	7	1	1	3	0	1	1	2	3	6	1	5	1	3	2	1	1	3	3	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:15355574C>T	ENST00000263377.2	-	12	2380		c.e12-1			NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4						interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGAGCCATCTCTGCAGAGGAA	0.547			T	C15orf55	lethal midline carcinoma of young people								37	75					0	0	0	0	T	15355574	C	T	15355574	5	4	145	1	0	0	0	0	0	0	1	0	1512	927	32	2	1966	2	BRD4	19	15355574	Splice_Site	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	1945675	15355574	43773409	116	27239											
ZNF382	84911	broad.mit.edu	37	chr19	37117054	37117054	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgggaaaactgaagaTgtcttagtgaagttcaaaga	17	9	12	3	0	2	5	1	2	1	3	2	7	2	6	0	1	1	1	0	1	7	2			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:37117054T>C	ENST00000435416.1	+	3	1747	c.252T>C	c.(250-252)gaT>gaC	p.D84D	ZNF382_ENST00000292928.2_Silent_p.D85D|ZNF382_ENST00000423582.1_Silent_p.D36D|ZNF382_ENST00000439428.1_Silent_p.D84D			Q96SR6	ZN382_HUMAN	zinc finger protein 382	85	Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAACTGAAGATGTCTTAGTGA	0.343													16	36					0	0	0	0	C	37117054	T	C	37117054	2	2	145	1	0	0	0	0	0	0	0	1	17968	1461	51	5		5	ZNF382	19	37117054	Silent	SNP	T	TCGA-CQ-6221-01A-11D-2078-08	21761480	37117054	22011929	117	27240											
EPN1	29924	broad.mit.edu	37	chr19	56203256	56203256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacccctggggcggcccccCtgtccctccagctgctgatc	3	7	12	19	1	0	1	0	1	0	0	3	2	2	2	7	4	2	2	7	4	0	0			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:56203256C>T	ENST00000411543.2	+	7	1704	c.1157C>T	c.(1156-1158)cCt>cTt	p.P386L	EPN1_ENST00000085079.7_Missense_Mutation_p.P275L|EPN1_ENST00000270460.6_Missense_Mutation_p.P300L	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	300	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GGCGGCCCCCCTGTCCCTCCA	0.751													12	37					0	0	0	0	T	56203256	C	T	56203256	3	4	145	1	0	0	0	0	1	0	0	0	5223	681	24	4	1262	4	EPN1	19	56203256	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	19086202	56203256	2925727	118	27241											
ZNF324B	388569	broad.mit.edu	37	chr19	58965127	58965127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgggggctcctggacaCagcgcagagggccctgtacc	7	5	17	12	1	0	1	0	0	0	1	1	3	1	3	3	5	2	3	3	5	1	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:58965127C>G	ENST00000336614.4	+	2	166	c.59C>G	c.(58-60)aCa>aGa	p.T20R	ZNF324B_ENST00000594214.1_Missense_Mutation_p.T20R|ZNF324B_ENST00000545523.1_Missense_Mutation_p.T20R|ZNF324B_ENST00000391696.1_5'UTR	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCCTGGACACAGCGCAGAGG	0.572													21	49					0	0	0	0	G	58965127	C	G	58965127	3	3	145	1	0	0	0	0	1	0	0	0	17940	478	17	4	61	4	ZNF324B	19	58965127	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	2761871	58965127	163856	119	27242											
PRDM15	63977	broad.mit.edu	37	chr21	43258051	43258051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggacttactttggaacCgagctggtgtcagtggtggt	7	11	16	7	1	1	0	1	0	0	0	1	3	1	2	1	6	3	2	1	6	2	2			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr21:43258051C>T	ENST00000422911.1	-	8	1205	c.1104G>A	c.(1102-1104)tcG>tcA	p.S368S	PRDM15_ENST00000398548.1_Silent_p.S368S|PRDM15_ENST00000447207.2_Silent_p.S331S|PRDM15_ENST00000538201.1_Silent_p.S331S|PRDM15_ENST00000269844.3_Silent_p.S697S			P57071	PRD15_HUMAN	PR domain containing 15	697					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ACTTTGGAACCGAGCTGGTGT	0.627													23	52					0	0	0	0	T	43258051	C	T	43258051	2	4	145	1	0	0	0	0	0	0	0	1	12536	639	23	1		1	PRDM15	21	43258051	Silent	SNP	C	TCGA-CQ-6221-01A-11D-2078-08		43258051	4871844	120	27243											
POTEH	23784	broad.mit.edu	37	chr22	16279217	16279217	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatatctatccagtgcatTtaaatttgcttttttcttga	9	20	4	8	0	2	1	0	1	2	0	4	1	4	1	2	0	2	2	2	0	4	9			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:16279217T>A	ENST00000343518.6	-	4	1057	c.1006A>T	c.(1006-1008)Aat>Tat	p.N336Y		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	336										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCAGTGCATTTAAATTTGCT	0.313													29	221					0	0	0	0	A	16279217	T	A	16279217	3	1	145	1	0	0	0	0	1	0	0	0	12339	1841	64	5	659	5	POTEH	22	16279217	Missense_Mutation	SNP	T	TCGA-CQ-6221-01A-11D-2078-08		16279217	35025349	121	27244											
ZDHHC8	29801	broad.mit.edu	37	chr22	20130547	20130547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacgccccaccgtagcatttTtgccccccatgcactgccca	7	8	6	20	2	0	0	0	0	0	0	0	0	0	0	7	0	4	3	7	0	1	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:20130547T>C	ENST00000334554.7	+	10	1535	c.1394T>C	c.(1393-1395)tTt>tCt	p.F465S	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.F465S|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.F373S	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	465						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CGTAGCATTTTTGCCCCCCAT	0.701													6	62					0	0	0	0	C	20130547	T	C	20130547	3	2	145	1	0	0	0	0	1	0	0	0	17716	1841	64	5	1432	5	ZDHHC8	22	20130547	Missense_Mutation	SNP	T	TCGA-CQ-6221-01A-11D-2078-08	3851330	20130547	31174019	122	27245											
LIF	3976	broad.mit.edu	37	chr22	30639706	30639706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagttgacagcccagcttCttcttctggaagacatcctt	9	12	9	11	0	3	2	0	1	3	1	4	4	4	4	2	2	2	2	2	2	1	5			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:30639706C>G	ENST00000249075.3	-	3	698	c.543G>C	c.(541-543)aaG>aaC	p.K181N	LIF_ENST00000403987.3_3'UTR	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	181					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			AGCCCAGCTTCTTCTTCTGGA	0.572													30	87					0	0	0	0	G	30639706	C	G	30639706	3	3	145	1	0	0	0	0	1	0	0	0	8833	912	32	2	69	2	LIF	22	30639706	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	10509159	30639706	20664860	123	27246											
GGA1	26088	broad.mit.edu	37	chr22	38016337	38016337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgcccgaggaggtgaaaatCgcagaggcctaccagatgct	11	6	13	11	2	0	3	0	1	0	2	1	5	0	4	3	3	3	2	3	3	3	1			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:38016337C>G	ENST00000406772.1	+	6	829	c.177C>G	c.(175-177)atC>atG	p.I59M	GGA1_ENST00000325180.8_Missense_Mutation_p.I132M|GGA1_ENST00000381756.5_Missense_Mutation_p.I149M|GGA1_ENST00000343632.4_Missense_Mutation_p.I132M|GGA1_ENST00000337437.4_Missense_Mutation_p.I99M	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	132	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AGGTGAAAATCGCAGAGGCCT	0.612													24	84					0	0	0	0	G	38016337	C	G	38016337	3	3	145	1	0	0	0	0	1	0	0	0	6403	874	31	3	480	3	GGA1	22	38016337	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	7376631	38016337	13288229	124	27247											
CSNK1E	1454	broad.mit.edu	37	chr22	38694865	38694865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaggttgcggaagagctGacgtaggtaagagtagtcgg	12	7	18	4	3	0	4	0	1	0	3	1	6	0	5	0	4	2	5	0	4	5	4			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:38694865G>C	ENST00000396832.1	-	7	1071	c.811C>G	c.(811-813)Cag>Gag	p.Q271E	CSNK1E_ENST00000413574.2_Missense_Mutation_p.Q271E|CSNK1E_ENST00000405675.3_Missense_Mutation_p.Q271E|CSNK1E_ENST00000400206.2_Missense_Mutation_p.Q271E|CSNK1E_ENST00000359867.3_Missense_Mutation_p.Q271E|CSNK1E_ENST00000403904.1_Missense_Mutation_p.Q271E|CSNK1E_ENST00000498529.1_5'UTR	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	271	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					CGGAAGAGCTGACGTAGGTAA	0.547											OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	122					0	0	0	0	C	38694865	G	C	38694865	3	2	145	1	0	0	0	0	1	0	0	0	3985	1299	45	2	455	2	CSNK1E	22	38694865	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	678528	38694865	12609701	125	27248											
GAGE2D	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																										TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													4	9	---	---	---	---					TAT	49208296	-	TAT	49208295	7	5	145	1	0	1	1	0	0	0	0	0	6241	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-CQ-6221-01A-11D-2078-08		49208295	106062265	126	27249											
MED12	9968	broad.mit.edu	37	chrX	70338616	70338616	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgggcaagatggcggccttCgggatcttgagctacgaaca	9	8	14	10	3	1	2	0	1	1	1	2	4	1	3	1	4	3	2	1	4	3	3			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chrX:70338616C>G	ENST00000333646.6	+	1	211	c.12C>G	c.(10-12)ttC>ttG	p.F4L	MED12_ENST00000374102.1_Missense_Mutation_p.F4L|MED12_ENST00000374080.3_Missense_Mutation_p.F4L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	4					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGGCGGCCTTCGGGATCTTGA	0.672			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						8	4					0	0	0	0	G	70338616	C	G	70338616	3	3	145	1	0	0	0	0	1	0	0	0	9497	883	31	3	14	3	MED12	23	70338616	Missense_Mutation	SNP	C	TCGA-CQ-6221-01A-11D-2078-08	21130321	70338616	84931944	127	27250											
MID2	11043	broad.mit.edu	37	chrX	107084609	107084609	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaatgatcgatttgagaaActcaaggtaagggatctggg	13	10	13	5	1	2	3	1	3	1	1	3	6	2	4	0	3	1	1	0	3	4	2			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chrX:107084609A>G	ENST00000262843.6	+	2	1262	c.714A>G	c.(712-714)aaA>aaG	p.K238K	MID2_ENST00000443968.2_Silent_p.K238K	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	238						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GATTTGAGAAACTCAAGGTAA	0.433													13	14					0	0	0	0	G	107084609	A	G	107084609	2	3	145	1	0	0	0	0	0	0	0	1	9647	40	2	5		5	MID2	23	107084609	Silent	SNP	A	TCGA-CQ-6221-01A-11D-2078-08	36745993	107084609	48185951	128	27251											
FRMD7	90167	broad.mit.edu	37	chrX	131212868	131212868	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctggtttggaatgctccaGctcagttgcaaatgtcacct	8	13	9	11	0	3	0	2	0	1	0	4	1	4	1	2	2	3	5	2	2	2	2			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chrX:131212868G>C	ENST00000298542.4	-	12	1352	c.1177C>G	c.(1177-1179)Ctg>Gtg	p.L393V	FRMD7_ENST00000464296.1_Missense_Mutation_p.L378V|FRMD7_ENST00000370879.1_Missense_Mutation_p.L273V	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	393					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GAatgctccagctcagttgca	0.478													71	38					0	0	0	0	C	131212868	G	C	131212868	3	2	145	1	0	0	0	0	1	0	0	0	6103	962	34	4	971	4	FRMD7	23	131212868	Missense_Mutation	SNP	G	TCGA-CQ-6221-01A-11D-2078-08	24128259	131212868	24057692	129	27252											
LIN28A	79727	broad.mit.edu	37	chr1	26751932	26751932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtattgggagtgagaggCggccaaaaggaaagagcatg	13	7	16	5	1	1	2	0	1	1	2	1	5	1	4	1	4	1	2	1	4	4	2			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:26751932C>T	ENST00000326279.6	+	3	481	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	LIN28A_ENST00000254231.4_Missense_Mutation_p.R123W	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	123					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GAGTGAGAGGCGGCCAAAAGG	0.522													9	108					0	0	0	0	T	26751932	C	T	26751932	3	4	146	1	0	0	0	0	1	0	0	0	8860	759	27	1	377	1	LIN28A	1	26751932	Missense_Mutation	SNP	C	TCGA-CQ-6222-01A-11D-1912-08		26751932	222498689	1	27253											
PUM1	9698	broad.mit.edu	37	chr1	31437649	31437650	+	Frame_Shift_Ins	INS	-	-	A																															ggaaaagctaaggccgttatINSaaaaactgtgtccaatgggg																										TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:31437649_31437650insA	ENST00000373747.3	-	14	2296_2297	c.2197_2198insT	c.(2197-2199)taafs	p.*733fs	PUM1_ENST00000426105.2_Frame_Shift_Ins_p.*732fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.*490fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.*588fs|PUM1_ENST00000257075.5_Frame_Shift_Ins_p.*732fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.*768fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.*673fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.*706fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	732	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGCCGTTATAAAAACTGTGT	0.559													13	147	---	---	---	---					A	31437650	-	A	31437649	7	5	146	1	0	1	1	0	0	0	0	0	12907	1406	49	0	1407	0	PUM1	1	31437649	Frame_Shift_Ins	INS	-	TCGA-CQ-6222-01A-11D-1912-08	4685717	31437649	217812972	2	27254											
GSTM2	2946	broad.mit.edu	37	chr1	110211933	110211933	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctacttgattgatgggActcacaagatcacccagagc	11	9	9	12	0	2	4	2	2	0	2	2	5	2	5	2	1	3	0	2	1	2	3	rs2227960	byFrequency	TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:110211933A>G	ENST00000369831.2	+	4	293	c.199A>G	c.(199-201)Act>Gct	p.T67A	GSTM2_ENST00000460717.3_Missense_Mutation_p.T67A|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000369829.2_Missense_Mutation_p.T67A|GSTM2_ENST00000369827.3_Missense_Mutation_p.T65A|GSTM2_ENST00000442650.1_Missense_Mutation_p.T67A|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000241337.4_Missense_Mutation_p.T67A					glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		GATTGATGGGACTCACAAGAT	0.572													23	221					0	0	0	0	G	110211933	A	G	110211933	3	3	146	1	0	0	0	0	1	0	0	0	6888	275	10	5	213	5	GSTM2	1	110211933	Missense_Mutation	SNP	A	TCGA-CQ-6222-01A-11D-1912-08	78774284	110211933	139038688	3	27255											
REG4	83998	broad.mit.edu	37	chr1	120337248	120337248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgattcttgctctatggtCggtacttgcacaggaagtgt	7	15	11	8	1	2	1	0	1	2	0	3	2	2	2	0	3	3	3	0	3	3	6			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:120337248C>T	ENST00000354219.1	-	7	909	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	REG4_ENST00000256585.5_Missense_Mutation_p.R157Q|REG4_ENST00000530654.1_3'UTR	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	157						extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		GCTCTATGGTCGGTACTTGCA	0.428													14	195					0	0	0	0	T	120337248	C	T	120337248	3	4	146	1	0	0	0	0	1	0	0	0	13296	884	31	1	10	1	REG4	1	120337248	Missense_Mutation	SNP	C	TCGA-CQ-6222-01A-11D-1912-08	10125315	120337248	128913373	4	27256											
VPS72	6944	broad.mit.edu	37	chr1	151156861	151156861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctcctgggttagtggcCgctcacagtggggccccttt	3	12	13	13	1	1	0	1	0	0	0	3	0	3	0	5	4	0	3	5	4	1	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:151156861C>T	ENST00000354473.4	-	4	530	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	165					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTTAGTGGCCGCTCACAGTG	0.537													12	157					0	0	0	0	T	151156861	C	T	151156861	3	4	146	1	0	0	0	0	1	0	0	0	17313	652	23	1	612	1	VPS72	1	151156861	Missense_Mutation	SNP	C	TCGA-CQ-6222-01A-11D-1912-08	30819613	151156861	98093760	5	27257											
LCE2D	353141	broad.mit.edu	37	chr1	152636834	152636834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtctcttccaccggcgcCggcaccagagccccgattgc	5	6	10	20	5	1	1	0	0	1	1	3	2	2	1	7	2	2	1	7	2	0	2			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:152636834C>T	ENST00000368784.1	+	2	308	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	85	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCGGCGCCGGCACCAGAG	0.682													8	86					0	0	0	0	T	152636834	C	T	152636834	3	4	146	1	0	0	0	0	1	0	0	0	8721	643	23	1	255	1	LCE2D	1	152636834	Missense_Mutation	SNP	C	TCGA-CQ-6222-01A-11D-1912-08	1479973	152636834	96613787	6	27258											
KCNH1	3756	broad.mit.edu	37	chr1	210857106	210857106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcgcttggcacaatcGcccccgccccccttggggcc	3	9	10	19	3	0	0	0	0	0	0	1	0	0	0	6	3	1	2	6	3	1	4			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:210857106G>A	ENST00000367007.4	-	11	2575	c.2406C>T	c.(2404-2406)ggC>ggT	p.G802G	KCNH1_ENST00000271751.4_Silent_p.G829G	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	829					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGCACAATCGCCCCCGCCCC	0.642													13	89					0	0	0	0	A	210857106	G	A	210857106	2	1	146	1	0	0	0	0	0	0	0	1	8084	1074	38	1		1	KCNH1	1	210857106	Silent	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	58220272	210857106	38393515	7	27259											
AKT3	10000	broad.mit.edu	37	chr1	243736284	243736284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagtccaaggcagagacaaTttctgcaccatagaaacgtg	15	8	9	9	1	1	2	0	0	1	2	2	3	2	2	2	1	2	2	2	1	5	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:243736284T>C	ENST00000366539.1	-	9	963	c.763A>G	c.(763-765)Att>Gtt	p.I255V	AKT3_ENST00000366540.1_Missense_Mutation_p.I255V|AKT3_ENST00000263826.5_Missense_Mutation_p.I255V|AKT3_ENST00000336199.5_Missense_Mutation_p.I255V			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	255	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GCAGAGACAATTTCTGCACCA	0.413													12	40					0	0	0	0	C	243736284	T	C	243736284	3	2	146	1	0	0	0	0	1	0	0	0	481	1493	52	5	748	5	AKT3	1	243736284	Missense_Mutation	SNP	T	TCGA-CQ-6222-01A-11D-1912-08	32879178	243736284	5514337	8	27260											
PSME4	23198	broad.mit.edu	37	chr2	54119989	54119989	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctctgattaaaccagctaTaatttctgcaacacatcgct	13	12	4	12	1	2	1	0	1	2	0	3	1	2	1	2	0	4	3	2	0	5	4			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:54119989T>C	ENST00000404125.1	-	36	4202	c.4147A>G	c.(4147-4149)Ata>Gta	p.I1383V	PSME4_ENST00000421748.2_Missense_Mutation_p.I527V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1383					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AAACCAGCTATAATTTCTGCA	0.383													4	69					0	0	0	0	C	54119989	T	C	54119989	3	2	146	1	0	0	0	0	1	0	0	0	12788	1406	49	5	1428	5	PSME4	2	54119989	Missense_Mutation	SNP	T	TCGA-CQ-6222-01A-11D-1912-08		54119989	189079384	9	27261											
CNGA3	1261	broad.mit.edu	37	chr2	99012949	99012949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggagacgcgggttatccGgtggtttgactacctgtggg	5	12	16	8	3	0	2	0	1	0	1	1	3	1	2	2	5	1	2	2	5	2	4			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:99012949G>A	ENST00000393504.1	+	8	1733	c.1316G>A	c.(1315-1317)cGg>cAg	p.R439Q	CNGA3_ENST00000436404.2_Missense_Mutation_p.R421Q|CNGA3_ENST00000409937.1_Missense_Mutation_p.R443Q|CNGA3_ENST00000272602.2_Missense_Mutation_p.R439Q	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	439			R -> W (in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; coexpression of the CNGB3 subunit compensate completely for the slightly higher apparent cGMP sensitivity of homomers; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CGGGTTATCCGGTGGTTTGAC	0.542													4	38					0	0	0	0	A	99012949	G	A	99012949	3	1	146	1	0	0	0	0	1	0	0	0	3628	1116	39	1	1342	1	CNGA3	2	99012949	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	44892960	99012949	144186424	10	27262											
RGPD4	285190	broad.mit.edu	37	chr2	108488296	108488297	+	Frame_Shift_Ins	INS	-	-	A																															ttggcaagtagccctgtgagINSaaaaaatcttttccattttg																										TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:108488296_108488297insA	ENST00000408999.3	+	20	3913_3914	c.3836_3837insA	c.(3835-3837)aaafs	p.K1279fs	RGPD4_ENST00000354986.4_Frame_Shift_Ins_p.K1279fs	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1279					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGCCCTGTGAGAAAAAATCTTT	0.396													32	391	---	---	---	---					A	108488297	-	A	108488296	7	5	146	1	0	1	1	0	0	0	0	0	13370	942	33	0	3914	0	RGPD4	2	108488296	Frame_Shift_Ins	INS	-	TCGA-CQ-6222-01A-11D-1912-08	9475347	108488296	134711077	11	27263											
MARCO	8685	broad.mit.edu	37	chr2	119726797	119726797	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtggtggtcatctacctGatcctgctcaccgctggcgc	4	11	12	14	2	3	1	2	1	1	0	4	1	4	1	3	3	2	3	3	3	1	1			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:119726797G>A	ENST00000327097.4	+	2	294	c.159G>A	c.(157-159)ctG>ctA	p.L53L	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	53					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCATCTACCTGATCCTGCTCA	0.597													9	73					0	0	0	0	A	119726797	G	A	119726797	2	1	146	1	0	0	0	0	0	0	0	1	9380	1277	45	2		2	MARCO	2	119726797	Silent	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	11238501	119726797	123472576	12	27264											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135920601	135920601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaagctctcattgccagaGctcggtcactaaaagccaag	12	8	10	11	1	2	1	2	0	1	1	4	2	2	2	2	2	4	2	2	2	4	2			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:135920601G>T	ENST00000264158.8	+	22	2579	c.2536G>T	c.(2536-2538)Gct>Tct	p.A846S	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A846S|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A802S|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	846						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CATTGCCAGAGCTCGGTCACT	0.423													11	110					7.03913e-09	3.79932e-08	1	0	T	135920601	G	T	135920601	3	4	146	1	0	0	0	0	1	0	0	0	13017	971	34	4	2622	4	RAB3GAP1	2	135920601	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	16193804	135920601	107278772	13	27265											
MYL1	4632	broad.mit.edu	37	chr2	211179749	211179749	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccacaggtttcttcacGtctttctttggtgccatttt	5	17	8	11	1	4	0	1	0	3	0	4	0	4	0	2	2	2	2	2	2	0	6			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:211179749G>A	ENST00000352451.3	-	1	165	c.18C>T	c.(16-18)gaC>gaT	p.D6D		NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	6					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTTTCTTCACGTCTTTCTTTG	0.507													29	234					0	0	0	0	A	211179749	G	A	211179749	2	1	146	1	0	0	0	0	0	0	0	1	10113	1136	40	1		1	MYL1	2	211179749	Silent	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	75259148	211179749	32019624	14	27266											
ANKZF1	55139	broad.mit.edu	37	chr2	220098566	220098566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggagcacccctgcaaaggGgggatccccgactttgggat	9	6	15	11	1	0	0	0	0	0	0	1	4	1	3	4	5	2	2	4	5	1	1			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:220098566G>A	ENST00000323348.5	+	8	1123	c.949G>A	c.(949-951)Ggg>Agg	p.G317R	ANKZF1_ENST00000410034.3_Missense_Mutation_p.G317R|ANKZF1_ENST00000409849.1_Missense_Mutation_p.G107R	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	317						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCAAAGGGGGGATCCCCG	0.597													7	60					0	0	0	0	A	220098566	G	A	220098566	3	1	146	1	0	0	0	0	1	0	0	0	692	1232	43	4	975	4	ANKZF1	2	220098566	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	8918817	220098566	23100807	15	27267											
GLB1	2720	broad.mit.edu	37	chr3	33038739	33038739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtgatggtgtttggggccGaggtcatcaggatgtgctgg	5	11	19	6	2	2	1	2	1	0	0	2	3	2	2	1	7	1	2	1	7	0	1			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr3:33038739G>A	ENST00000307363.5	-	16	1976	c.1832C>T	c.(1831-1833)tCg>tTg	p.S611L	GLB1_ENST00000307377.8_Missense_Mutation_p.S480L|GLB1_ENST00000445488.2_Missense_Mutation_p.S659L|GLB1_ENST00000399402.3_Missense_Mutation_p.S581L	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	611					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GTTTGGGGCCGAGGTCATCAG	0.572													7	66					0	0	0	0	A	33038739	G	A	33038739	3	1	146	1	0	0	0	0	1	0	0	0	6478	1059	37	1	205	1	GLB1	3	33038739	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08		33038739	164983691	16	27268											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	50					0	0	0	0	G	178952085	A	G	178952085	3	3	146	1	0	0	0	0	1	0	0	0	11985	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-CQ-6222-01A-11D-1912-08	145913346	178952085	19070345	17	27269											
MUC4	4585	broad.mit.edu	37	chr3	195517442	195517442	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgttgagggtgttgatttGagatactctggtggtctcca	6	15	15	5	0	2	3	0	3	2	1	3	4	2	3	1	4	1	2	1	4	1	4			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr3:195517442G>C	ENST00000463781.3	-	2	1468	c.1009C>G	c.(1009-1011)Caa>Gaa	p.Q337E	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.Q337E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	342					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTTGATTTGAGATACTCTG	0.458													17	215					0	0	0	0	C	195517442	G	C	195517442	3	2	146	1	0	0	0	0	1	0	0	0	10048	1299	45	2		2	MUC4	3	195517442	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	16565357	195517442	2504988	18	27270											
DRD5	1816	broad.mit.edu	37	chr4	9784380	9784380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgttgccatcatgatcGtgacctacacgcgcatctac	8	10	7	16	4	2	2	1	2	1	0	4	2	3	2	4	0	3	2	4	0	2	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr4:9784380G>A	ENST00000304374.2	+	1	1123	c.727G>A	c.(727-729)Gtg>Atg	p.V243M		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	243					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CATCATGATCGTGACCTACAC	0.607													8	45					0	0	0	0	A	9784380	G	A	9784380	3	1	146	1	0	0	0	0	1	0	0	0	4796	1145	40	1	729	1	DRD5	4	9784380	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08		9784380	181369896	19	27271											
FAT1	2195	broad.mit.edu	37	chr4	187560905	187560905	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcatcttgctgttctcGgtctagcttccttgacgtag	4	17	10	10	2	4	1	1	1	3	0	6	1	5	1	1	1	2	5	1	1	2	7			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr4:187560905G>A	ENST00000441802.2	-	4	3822	c.3613C>T	c.(3613-3615)Cga>Tga	p.R1205*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1205	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCTGTTCTCGGTCTAGCTTC	0.308										HNSCC(5;0.00058)			12	76					0	0	0	0	A	187560905	G	A	187560905	4	1	146	1	0	0	0	0	0	1	0	0	5734	1124	39	1	10249	1	FAT1	4	187560905	Nonsense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	177776525	187560905	3593371	20	27272											
PARP8	79668	broad.mit.edu	37	chr5	50057654	50057654	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttactttattattttaaGgaatcaagacagaatagtac	15	16	5	5	0	2	2	1	0	1	2	2	3	2	3	0	1	2	1	0	1	9	9			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr5:50057654G>T	ENST00000281631.5	+	6	503		c.e6-1		PARP8_ENST00000503750.2_Splice_Site|PARP8_ENST00000514342.2_Splice_Site|PARP8_ENST00000514067.2_Splice_Site|PARP8_ENST00000511363.2_Splice_Site|PARP8_ENST00000505697.2_Splice_Site|PARP8_ENST00000505554.1_Splice_Site	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8							intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATTATTTTAAGGAATCAAGAC	0.333													6	62					2.0095e-06	1.04444e-05	1	0	T	50057654	G	T	50057654	5	4	146	1	0	0	0	0	0	0	1	0	11536	1014	35	4	367	4	PARP8	5	50057654	Splice_Site	SNP	G	TCGA-CQ-6222-01A-11D-1912-08		50057654	130857606	21	27273											
SLC36A1	206358	broad.mit.edu	37	chr5	150867642	150867642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcatcatcccaccgctcctgGaggtcaccaccttctactca	8	10	5	18	1	5	0	4	0	1	0	7	1	7	1	5	2	1	1	5	2	1	2			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr5:150867642G>A	ENST00000243389.3	+	11	1481	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	SLC36A1_ENST00000520701.1_Missense_Mutation_p.E420K	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	420					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	ACCGCTCCTGGAGGTCACCAC	0.627													4	38					0	0	0	0	A	150867642	G	A	150867642	3	1	146	1	0	0	0	0	1	0	0	0	14681	1175	41	2	1296	2	SLC36A1	5	150867642	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	100809988	150867642	30047618	22	27274											
FAT2	2196	broad.mit.edu	37	chr5	150921902	150921902	+	Frame_Shift_Del	DEL	T	T	-																															aaatgtcagcatccagggtcTttagagtcgccaccagttcg																										TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr5:150921902delT	ENST00000261800.5	-	9	8798	c.8786delA	c.(8785-8787)agfs	p.K2929fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2929	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCAGGGTCTTTAGAGTCGC	0.493													19	182	---	---	---	---					-	150921902	T	-	150921902	7	5	146	1	0	1	0	1	0	0	0	0	5735	1609	56	0	4323	0	FAT2	5	150921902	Frame_Shift_Del	DEL	T	TCGA-CQ-6222-01A-11D-1912-08	54260	150921902	29993358	23	27275											
EEF1E1	9521	broad.mit.edu	37	chr6	8080226	8080226	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaaaaccagcgagacacaTtaagatatttctccttttct	14	12	5	10	1	2	2	0	0	2	2	3	4	2	2	2	0	2	0	2	0	4	5			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:8080226T>C	ENST00000379715.5	-	4	478	c.422A>G	c.(421-423)aAt>aGt	p.N141S	EEF1E1-MUTED_ENST00000397456.2_Intron|EEF1E1_ENST00000429723.2_Intron	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	141	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					GCGAGACACATTAAGATATTT	0.368													3	70					0	0	0	0	C	8080226	T	C	8080226	3	2	146	1	0	0	0	0	1	0	0	0	4963	1493	52	5	146	5	EEF1E1	6	8080226	Missense_Mutation	SNP	T	TCGA-CQ-6222-01A-11D-1912-08		8080226	163034841	24	27276											
HIVEP1	3096	broad.mit.edu	37	chr6	12161735	12161735	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaatctgatggcccagAtgaggatgacaatgaaaatg	16	8	12	5	0	1	7	0	5	1	2	1	8	1	8	1	2	0	0	1	2	5	0			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:12161735A>G	ENST00000379388.2	+	8	6883	c.6551A>G	c.(6550-6552)gAt>gGt	p.D2184G	HIVEP1_ENST00000541134.1_Missense_Mutation_p.D49G	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2184					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GATGGCCCAGATGAGGATGAC	0.453													9	74					0	0	0	0	G	12161735	A	G	12161735	3	3	146	1	0	0	0	0	1	0	0	0	7236	333	12	5	6577	5	HIVEP1	6	12161735	Missense_Mutation	SNP	A	TCGA-CQ-6222-01A-11D-1912-08	4081509	12161735	158953332	25	27277											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056552	26056552	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacaccgggggaccagaCgccttacgaggcgtaccccc	8	5	12	16	4	1	2	0	1	1	1	1	4	1	3	5	3	2	1	5	3	2	2	rs139532972	byFrequency	TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:26056552C>T	ENST00000343677.2	-	1	147	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	35					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GGGGACCAGACGCCTTACGAG	0.632													9	91					0	0	0	0	T	26056552	C	T	26056552	2	4	146	1	0	0	0	0	0	0	0	1	7174	523	19	1		1	HIST1H1C	6	26056552	Silent	SNP	C	TCGA-CQ-6222-01A-11D-1912-08	13894817	26056552	145058515	26	27278											
MDN1	23195	broad.mit.edu	37	chr6	90380712	90380712	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacggtgagttgctaaagAcatggtcaggaagaagagga	15	7	14	5	1	1	4	1	1	0	3	1	6	1	6	0	4	2	2	0	4	5	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:90380712A>G	ENST00000369393.3	-	83	13997	c.13882T>C	c.(13882-13884)Tct>Cct	p.S4628P	MDN1_ENST00000428876.1_Missense_Mutation_p.S4628P|MDN1_ENST00000468568.1_5'UTR			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4628					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTGCTAAAGACATGGTCAGG	0.532													4	81					0	0	0	0	G	90380712	A	G	90380712	3	3	146	1	0	0	0	0	1	0	0	0	9484	275	10	5	2988	5	MDN1	6	90380712	Missense_Mutation	SNP	A	TCGA-CQ-6222-01A-11D-1912-08	64324160	90380712	80734355	27	27279											
PLAGL1	5325	broad.mit.edu	37	chr6	144263171	144263171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggactgagggtgaggctaTggacctcagctggcaagcta	9	7	17	8	0	1	2	1	2	0	0	1	4	1	4	1	6	2	4	1	6	3	2			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:144263171T>C	ENST00000360537.2	-	5	2695	c.782A>G	c.(781-783)cAt>cGt	p.H261R	PLAGL1_ENST00000429150.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000437412.1_Missense_Mutation_p.H209R|PLAGL1_ENST00000354765.2_Missense_Mutation_p.H261R|PLAGL1_ENST00000444202.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000392307.1_Missense_Mutation_p.H209R|PLAGL1_ENST00000367572.1_Missense_Mutation_p.H209R|PLAGL1_ENST00000367571.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000416623.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000392309.1_Missense_Mutation_p.H261R			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	261					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GGTGAGGCTATGGACCTCAGC	0.612											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	123					0	0	0	0	C	144263171	T	C	144263171	3	2	146	1	0	0	0	0	1	0	0	0	12091	1464	51	5	613	5	PLAGL1	6	144263171	Missense_Mutation	SNP	T	TCGA-CQ-6222-01A-11D-1912-08	53882459	144263171	26851896	28	27280											
VIP	7432	broad.mit.edu	37	chr6	153073384	153073384	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcttctcacagacttcGgcatggcctctttacagggc	6	12	10	13	1	3	1	1	0	3	1	5	1	3	1	1	3	2	2	1	3	1	4			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:153073384G>A	ENST00000367244.3	+	2	244	c.72G>A	c.(70-72)tcG>tcA	p.S24S	VIP_ENST00000367243.3_Silent_p.S24S	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	24					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CACAGACTTCGGCATGGCCTC	0.463													8	44					0	0	0	0	A	153073384	G	A	153073384	2	1	146	1	0	0	0	0	0	0	0	1	17263	1103	39	1		1	VIP	6	153073384	Silent	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	8810213	153073384	18041683	29	27281											
TIAM2	26230	broad.mit.edu	37	chr6	155565824	155565824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggaagtttgccagagatGcttgagtttcagaaggtgtt	9	15	13	4	0	1	3	1	1	0	2	1	5	1	4	1	2	2	4	1	2	2	5			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:155565824G>A	ENST00000461783.3	+	20	4723	c.3450G>A	c.(3448-3450)atG>atA	p.M1150I	TIAM2_ENST00000318981.5_Missense_Mutation_p.M1150I|TIAM2_ENST00000367174.2_Missense_Mutation_p.M526I|TIAM2_ENST00000529824.2_Missense_Mutation_p.M1150I|TIAM2_ENST00000275246.7_Missense_Mutation_p.M75I|TIAM2_ENST00000528391.2_Missense_Mutation_p.M486I|TIAM2_ENST00000360366.4_Missense_Mutation_p.M1174I|TIAM2_ENST00000456144.1_Missense_Mutation_p.M1150I|TIAM2_ENST00000456877.2_Missense_Mutation_p.M462I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1150	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCCAGAGATGCTTGAGTTTC	0.438													8	104					0	0	0	0	A	155565824	G	A	155565824	3	1	146	1	0	0	0	0	1	0	0	0	15985	1319	46	4	3508	4	TIAM2	6	155565824	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	2492440	155565824	15549243	30	27282											
MLLT4	4301	broad.mit.edu	37	chr6	168352492	168352492	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacaggaaacagtcattcgGgagctgcagcctcagcagca	12	5	11	13	1	2	0	2	0	0	0	3	2	2	2	2	2	6	4	2	2	1	1			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:168352492G>A	ENST00000366806.2	+	30	4579	c.4437G>A	c.(4435-4437)cgG>cgA	p.R1479R	MLLT4_ENST00000392112.1_Silent_p.R1462R|MLLT4_ENST00000351017.4_Silent_p.R1486R|MLLT4_ENST00000447894.2_Silent_p.R1479R|MLLT4_ENST00000400822.3_Silent_p.R1478R|MLLT4_ENST00000392108.3_Silent_p.R1479R|MLLT4_ENST00000344191.4_Silent_p.R1479R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1479					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAGTCATTCGGGAGCTGCAGC	0.577			T	MLL	AL								8	81					0	0	0	0	A	168352492	G	A	168352492	2	1	146	1	0	0	0	0	0	0	0	1	9698	1219	43	4		4	MLLT4	6	168352492	Silent	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	12786668	168352492	2762575	31	27283											
RAPGEF5	9771	broad.mit.edu	37	chr7	22190088	22190088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcctcgagggatttggaGatgactaagtcatttggctg	9	12	14	6	1	1	2	1	1	0	1	2	6	1	3	1	3	1	1	1	3	1	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr7:22190088G>A	ENST00000344041.6	-	18	1674	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	RAPGEF5_ENST00000401957.2_Silent_p.I304I	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	304	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	p.I456M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GGGATTTGGAGATGACTAAGT	0.393													4	90					0	0	0	0	A	22190088	G	A	22190088	2	1	146	1	0	0	0	0	0	0	0	1	13129	932	33	2		2	RAPGEF5	7	22190088	Silent	SNP	G	TCGA-CQ-6222-01A-11D-1912-08		22190088	136948575	32	27284											
AEBP1	165	broad.mit.edu	37	chr7	44151908	44151908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctgaacgctacctttcGccagatgccacggtgaggct	8	9	10	14	3	0	3	0	2	0	1	2	3	1	3	4	2	3	2	4	2	2	2			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr7:44151908G>A	ENST00000223357.3	+	17	2510	c.2205G>A	c.(2203-2205)tcG>tcA	p.S735S	AEBP1_ENST00000450684.2_Silent_p.S310S	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	735	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCTACCTTTCGCCAGATGCCA	0.622													5	42					0	0	0	0	A	44151908	G	A	44151908	2	1	146	1	0	0	0	0	0	0	0	1	349	1074	38	1		1	AEBP1	7	44151908	Silent	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	21961820	44151908	114986755	33	27285											
PTPN12	5782	broad.mit.edu	37	chr7	77256908	77256908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctgctgccactagtactGaaagcatttctactaggaaa	12	13	7	9	0	2	1	0	1	2	0	2	2	2	2	1	1	5	3	1	1	6	6			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr7:77256908G>A	ENST00000248594.6	+	13	2184	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	PTPN12_ENST00000415482.2_Missense_Mutation_p.E519K|PTPN12_ENST00000435495.2_Missense_Mutation_p.E508K	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	638						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CACTAGTACTGAAAGCATTTC	0.388													4	47					0	0	0	0	A	77256908	G	A	77256908	3	1	146	1	0	0	0	0	1	0	0	0	12861	1291	45	2	1962	2	PTPN12	7	77256908	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	33105000	77256908	81881755	34	27286											
PPP1R9A	55607	broad.mit.edu	37	chr7	94539551	94539551	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacccaagtcagatggggaAcaaaaaacaaaagaaggtga	22	3	10	6	0	1	3	1	1	0	2	1	4	1	4	1	3	3	0	1	3	9	0			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr7:94539551A>G	ENST00000289495.5	+	1	342	c.126A>G	c.(124-126)gaA>gaG	p.E42E	PPP1R9A_ENST00000433881.1_Silent_p.E42E|PPP1R9A_ENST00000340694.4_Silent_p.E42E|PPP1R9A_ENST00000424654.1_Silent_p.E42E|PPP1R9A_ENST00000456331.2_Silent_p.E42E|PPP1R9A_ENST00000433360.1_Silent_p.E42E	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	42	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGATGGGGAACAAAAAACAA	0.453										HNSCC(28;0.073)			4	32					0	0	0	0	G	94539551	A	G	94539551	2	3	146	1	0	0	0	0	0	0	0	1	12454	40	2	5		5	PPP1R9A	7	94539551	Silent	SNP	A	TCGA-CQ-6222-01A-11D-1912-08	17282643	94539551	64599112	35	27287											
XPO7	23039	broad.mit.edu	37	chr8	21857170	21857170	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctctcttccatttctgaaGgacttactgcacttggtaag	8	16	7	10	0	3	1	0	1	3	0	5	2	4	2	1	2	2	2	1	2	3	6			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr8:21857170G>T	ENST00000434536.1	+	24	2896	c.2794G>T	c.(2794-2796)Gga>Tga	p.G932*	XPO7_ENST00000252512.9_Nonsense_Mutation_p.G923*|XPO7_ENST00000433566.4_Nonsense_Mutation_p.G924*			Q9UIA9	XPO7_HUMAN	exportin 7	923					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CATTTCTGAAGGACTTACTGC	0.433													5	45					3.59834e-05	0.000184744	1	0	T	21857170	G	T	21857170	4	4	146	1	0	0	0	0	0	1	0	0	17545	1001	35	4	2913	4	XPO7	8	21857170	Nonsense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08		21857170	124506852	36	27288											
YTHDF3	253943	broad.mit.edu	37	chr8	64099642	64099642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatcgctgggtagctcctcGtaacaggggagcaggcttca	9	8	14	10	2	1	0	1	0	0	0	4	2	2	1	1	4	3	6	1	4	3	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr8:64099642G>A	ENST00000539294.1	+	4	1386	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.R168H	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	358												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GTAGCTCCTCGTAACAGGGGA	0.547													7	18					0	0	0	0	A	64099642	G	A	64099642	3	1	146	1	0	0	0	0	1	0	0	0	17596	1145	40	1	1086	1	YTHDF3	8	64099642	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	42242472	64099642	82264380	37	27289											
COL22A1	169044	broad.mit.edu	37	chr8	139635989	139635989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctttaccggctctccaggggGacccggctttccatctctgc	4	11	10	16	2	2	0	0	0	2	0	5	1	3	1	4	4	2	2	4	4	1	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr8:139635989G>C	ENST00000303045.6	-	52	4203	c.3757C>G	c.(3757-3759)Ccc>Gcc	p.P1253A	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1233A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1253	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCCAGGGGGACCCGGCTTT	0.438										HNSCC(7;0.00092)			53	171					0	0	0	0	C	139635989	G	C	139635989	3	2	146	1	0	0	0	0	1	0	0	0	3711	1174	41	2	1179	2	COL22A1	8	139635989	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	75536347	139635989	6728033	38	27290											
KDM4C	23081	broad.mit.edu	37	chr9	6893144	6893144	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttcccatatggctaccAtgctggttttaatcatggtt	8	16	7	10	0	1	0	1	0	0	0	2	0	2	0	2	3	2	4	2	3	3	6			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr9:6893144A>T	ENST00000381309.3	+	8	1398	c.833A>T	c.(832-834)cAt>cTt	p.H278L	KDM4C_ENST00000381306.3_Missense_Mutation_p.H278L|KDM4C_ENST00000543771.1_Missense_Mutation_p.H278L|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000535193.1_Missense_Mutation_p.H300L|KDM4C_ENST00000536108.1_Missense_Mutation_p.H97L|KDM4C_ENST00000442236.2_Missense_Mutation_p.H97L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	278	JmjC.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TATGGCTACCATGCTGGTTTT	0.368													7	80					0	0	0	0	T	6893144	A	T	6893144	3	4	146	1	0	0	0	0	1	0	0	0	8183	217	8	5	929	5	KDM4C	9	6893144	Missense_Mutation	SNP	A	TCGA-CQ-6222-01A-11D-1912-08		6893144	134320287	39	27291											
RUSC2	9853	broad.mit.edu	37	chr9	35555624	35555624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgcctctgggctcctggcGatctggcctcagccgagcag	4	7	14	16	3	3	0	1	0	2	0	4	2	4	0	5	3	2	2	5	3	0	0			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr9:35555624G>A	ENST00000455600.1	+	3	3151	c.2582G>A	c.(2581-2583)cGa>cAa	p.R861Q		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	861						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCTCCTGGCGATCTGGCCTC	0.637													6	50					0	0	0	0	A	35555624	G	A	35555624	3	1	146	1	0	0	0	0	1	0	0	0	13836	1058	37	1	2588	1	RUSC2	9	35555624	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	28662480	35555624	105657807	40	27292											
IARS	3376	broad.mit.edu	37	chr9	95004546	95004546	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctttcaataacactatTcagatatgttccttcagact	11	15	6	9	0	3	2	3	0	0	2	4	2	4	2	1	1	1	2	1	1	4	7			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr9:95004546T>A	ENST00000375643.3	-	29	3333	c.3067A>T	c.(3067-3069)Aat>Tat	p.N1023Y	IARS_ENST00000375629.3_Missense_Mutation_p.N76Y|IARS_ENST00000375627.1_Missense_Mutation_p.N76Y|IARS_ENST00000443024.2_Missense_Mutation_p.N1023Y|IARS_ENST00000474340.1_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.N913Y	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1023					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ATAACACTATTCAGATATGTT	0.368													7	33					0	0	0	0	A	95004546	T	A	95004546	3	1	146	1	0	0	0	0	1	0	0	0	7526	1783	62	5	745	5	IARS	9	95004546	Missense_Mutation	SNP	T	TCGA-CQ-6222-01A-11D-1912-08	59448922	95004546	46208885	41	27293											
MUSK	4593	broad.mit.edu	37	chr9	113563104	113563104	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaggtcatttactacgtgCgagatggcaacatcctctcc	10	10	10	11	2	2	1	1	0	1	1	4	3	3	2	2	3	4	1	2	3	3	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr9:113563104C>T	ENST00000416899.2	+	13	2548	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	MUSK_ENST00000189978.5_Nonsense_Mutation_p.R816*|MUSK_ENST00000374448.4_Nonsense_Mutation_p.R816*			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	816	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTACTACGTGCGAGATGGCAA	0.557													4	34					0	0	0	0	T	113563104	C	T	113563104	4	4	146	1	0	0	0	0	0	1	0	0	10059	760	27	1	2536	1	MUSK	9	113563104	Nonsense_Mutation	SNP	C	TCGA-CQ-6222-01A-11D-1912-08	18558558	113563104	27650327	42	27294											
PIP4K2A	5305	broad.mit.edu	37	chr10	22898587	22898587	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacctttatttttgaataGgctttgaagtcatctggcat	9	17	7	8	0	2	2	1	2	1	0	3	2	3	2	2	2	0	2	2	2	4	6			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr10:22898587G>A	ENST00000376573.4	-	2	432	c.204C>T	c.(202-204)gcC>gcT	p.A68A	PIP4K2A_ENST00000545335.1_Silent_p.A9A|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	68	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TTTTTGAATAGGCTTTGAAGT	0.353													7	53					0	0	0	0	A	22898587	G	A	22898587	2	1	146	1	0	0	0	0	0	0	0	1	12008	987	35	4		4	PIP4K2A	10	22898587	Silent	SNP	G	TCGA-CQ-6222-01A-11D-1912-08		22898587	112636160	43	27295											
KIAA1462	57608	broad.mit.edu	37	chr10	30315782	30315782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccggatgcccggcaggaGggactccaccgccacctcaa	8	5	11	17	3	2	0	1	0	1	0	4	3	3	3	6	4	1	1	6	4	1	0			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr10:30315782G>A	ENST00000375377.1	-	3	3396	c.3295C>T	c.(3295-3297)Ctc>Ttc	p.L1099F		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1099										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCCGGCAGGAGGGACTCCACC	0.627													9	105					0	0	0	0	A	30315782	G	A	30315782	3	1	146	1	0	0	0	0	1	0	0	0	8285	1000	35	4	792	4	KIAA1462	10	30315782	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	7417195	30315782	105218965	44	27296											
ANK3	288	broad.mit.edu	37	chr10	62023666	62023666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtcgtcttttcgggccGcgatatgaagagctgggaga	7	11	15	8	5	1	3	0	1	1	2	4	5	1	3	1	2	1	1	1	2	2	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr10:62023666G>A	ENST00000280772.1	-	6	817	c.626C>T	c.(625-627)gCg>gTg	p.A209V	ANK3_ENST00000503366.1_Missense_Mutation_p.A192V|ANK3_ENST00000373827.2_Missense_Mutation_p.A203V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	209					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTCGGGCCGCGATATGAAG	0.552													12	51					0	0	0	0	A	62023666	G	A	62023666	3	1	146	1	0	0	0	0	1	0	0	0	622	1087	38	1	12992	1	ANK3	10	62023666	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	31707884	62023666	73511081	45	27297											
C10orf54	64115	broad.mit.edu	37	chr10	73521632	73521632	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagcaggtctgcacctcGcccctcgagctgcggtacca	6	8	11	16	3	2	1	0	1	2	0	4	2	2	1	4	2	5	4	4	2	1	1			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr10:73521632G>T	ENST00000394957.3	-	2	292	c.234C>A	c.(232-234)ggC>ggA	p.G78G	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	78	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TCTGCACCTCGCCCCTCGAGC	0.647													5	47					0.000602214	0.00301824	1	0	T	73521632	G	T	73521632	2	4	146	1	0	0	0	0	0	0	0	1	1617	1074	38	3		3	C10orf54	10	73521632	Silent	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	11497966	73521632	62013115	46	27298											
PSD	5662	broad.mit.edu	37	chr10	104164346	104164346	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagcttgggctacctgggaGaggcgggtggcagcgctggg	6	6	21	8	2	0	2	0	0	0	2	0	3	0	2	1	6	3	4	1	6	1	2			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr10:104164346G>C	ENST00000020673.5	-	15	3220	c.2694C>G	c.(2692-2694)ctC>ctG	p.L898L	PSD_ENST00000406432.1_Silent_p.L898L	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	898					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CTACCTGGGAGAGGCGGGTGG	0.612													3	66					0	0	0	0	C	104164346	G	C	104164346	2	2	146	1	0	0	0	0	0	0	0	1	12725	929	33	2		2	PSD	10	104164346	Silent	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	30642714	104164346	31370401	47	27299											
ZNF143	7702	broad.mit.edu	37	chr11	9500065	9500065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctgatgggacagtggcaGgtctgcacactggggatgct	8	8	17	8	0	1	1	0	1	1	0	1	3	1	3	0	6	2	4	0	6	0	0			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr11:9500065G>A	ENST00000396602.2	+	6	621	c.502G>A	c.(502-504)Ggt>Agt	p.G168S	ZNF143_ENST00000396604.1_Missense_Mutation_p.G167S|ZNF143_ENST00000299606.2_Missense_Mutation_p.G140S|ZNF143_ENST00000396597.3_Missense_Mutation_p.G137S|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167S	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	168					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GACAGTGGCAGGTCTGCACAC	0.493													8	90					0	0	0	0	A	9500065	G	A	9500065	3	1	146	1	0	0	0	0	1	0	0	0	17827	1000	35	4	520	4	ZNF143	11	9500065	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08		9500065	125506451	48	27300											
LRP4	4038	broad.mit.edu	37	chr11	46898166	46898166	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggccaatggcatcaaccgcGagcccatctgtggtctgtag	8	8	12	13	3	3	0	1	0	2	0	3	1	3	0	3	3	2	2	3	3	3	1			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr11:46898166G>A	ENST00000378623.1	-	25	3629	c.3387C>T	c.(3385-3387)ctC>ctT	p.L1129L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1129					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CATCAACCGCGAGCCCATCTG	0.537													11	85					0	0	0	0	A	46898166	G	A	46898166	2	1	146	1	0	0	0	0	0	0	0	1	9023	1045	37	1		1	LRP4	11	46898166	Silent	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	37398101	46898166	88108350	49	27301											
ADAMTS8	11095	broad.mit.edu	37	chr11	130278733	130278733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttgcagcggtcccgggggGacaccccagcatacttgggg	7	6	15	13	2	0	0	0	0	0	0	1	1	1	1	3	6	4	2	3	6	1	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr11:130278733G>T	ENST00000257359.6	-	7	2559	c.1853C>A	c.(1852-1854)tCc>tAc	p.S618Y		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	618	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GTCCCGGGGGGACACCCCAGC	0.562													14	111					2.32078e-09	1.2689e-08	1	0	T	130278733	G	T	130278733	3	4	146	1	0	0	0	0	1	0	0	0	272	1174	41	2	828	2	ADAMTS8	11	130278733	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	83380567	130278733	4727783	50	27302											
TULP3	7289	broad.mit.edu	37	chr12	3048518	3048518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacgtgtggcagatgacGtgttcacactggattacaac	10	11	12	8	2	1	2	1	1	0	1	1	4	1	4	0	3	2	2	0	3	2	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr12:3048518G>A	ENST00000448120.2	+	11	1288	c.1237G>A	c.(1237-1239)Gtg>Atg	p.V413M	TULP3_ENST00000397132.2_Missense_Mutation_p.V413M	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	413					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGCAGATGACGTGTTCACACT	0.428													11	112					0	0	0	0	A	3048518	G	A	3048518	3	1	146	1	0	0	0	0	1	0	0	0	16871	1145	40	1	1279	1	TULP3	12	3048518	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08		3048518	130803377	51	27303											
SPRYD3	84926	broad.mit.edu	37	chr12	53471030	53471030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggttgaggtcatccatcttGttcatgagaacaaacctgcc	11	11	9	10	0	3	2	2	2	1	1	4	3	4	2	3	2	3	2	3	2	2	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr12:53471030G>T	ENST00000301463.4	-	2	125	c.39C>A	c.(37-39)aaC>aaA	p.N13K	SPRYD3_ENST00000547837.1_Missense_Mutation_p.N50K	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	13										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CATCCATCTTGTTCATGAGAA	0.547													7	26					1.06961e-07	5.62884e-07	1	0	T	53471030	G	T	53471030	3	4	146	1	0	0	0	0	1	0	0	0	15199	1368	48	4	1329	4	SPRYD3	12	53471030	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	50422512	53471030	80380865	52	27304											
SSH1	54434	broad.mit.edu	37	chr12	109194621	109194621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtctgtggtctcttcatcGtagactcggatgttatgata	8	15	11	7	2	3	2	1	1	2	1	6	3	3	3	0	3	0	2	0	3	3	4			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr12:109194621G>A	ENST00000326495.5	-	12	1176	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y	SSH1_ENST00000360239.3_Silent_p.Y49Y|SSH1_ENST00000326470.5_Silent_p.Y372Y|SSH1_ENST00000551165.1_Silent_p.Y361Y	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	361	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTCTTCATCGTAGACTCGGA	0.398													14	114					0	0	0	0	A	109194621	G	A	109194621	2	1	146	1	0	0	0	0	0	0	0	1	15274	1140	40	1		1	SSH1	12	109194621	Silent	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	55723591	109194621	24657274	53	27305											
ACACB	32	broad.mit.edu	37	chr12	109617746	109617746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccgcctggccaagaccGtgggctatgtgagtgcaggg	7	7	15	12	2	0	2	0	1	0	1	1	2	1	2	5	3	1	2	5	3	2	1			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr12:109617746G>A	ENST00000338432.7	+	11	1791	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M	ACACB_ENST00000377848.3_Missense_Mutation_p.V558M|ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.V558M			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	558	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGCCAAGACCGTGGGCTATGT	0.527													6	53					0	0	0	0	A	109617746	G	A	109617746	3	1	146	1	0	0	0	0	1	0	0	0	107	1145	40	1	1710	1	ACACB	12	109617746	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	423125	109617746	24234149	54	27306											
ATP12A	479	broad.mit.edu	37	chr13	25265211	25265211	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttggaaatgagaagacGcccattgccattgagatcga	13	8	13	7	2	0	3	0	2	0	3	1	8	0	5	2	2	1	1	2	2	2	3	rs61739266	byFrequency	TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr13:25265211G>A	ENST00000218548.6	+	8	1242	c.909G>A	c.(907-909)acG>acA	p.T303T	ATP12A_ENST00000381946.3_Silent_p.T297T	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	297					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.T297T(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ATGAGAAGACGCCCATTGCCA	0.522													9	69					0	0	0	0	A	25265211	G	A	25265211	2	1	146	1	0	0	0	0	0	0	0	1	1126	1074	38	1		1	ATP12A	13	25265211	Silent	SNP	G	TCGA-CQ-6222-01A-11D-1912-08		25265211	89904667	55	27307											
SLITRK5	26050	broad.mit.edu	37	chr13	88328670	88328670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacccaacaagcccagggtgCgccccacctctcggcagccc	9	3	9	20	2	1	0	0	0	1	0	2	0	1	0	6	2	5	1	6	2	3	0			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr13:88328670C>T	ENST00000325089.6	+	2	1246	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R102C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	343						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCAGGGTGCGCCCCACCTC	0.597													8	93					0	0	0	0	T	88328670	C	T	88328670	3	4	146	1	0	0	0	0	1	0	0	0	14834	768	27	1	1029	1	SLITRK5	13	88328670	Missense_Mutation	SNP	C	TCGA-CQ-6222-01A-11D-1912-08	63063459	88328670	26841208	56	27308											
EML5	161436	broad.mit.edu	37	chr14	89206756	89206756	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggctccttgtattgttcgtAtaagattgattcctttccaa	8	17	8	8	1	0	2	0	1	0	1	4	2	3	2	3	1	0	4	3	1	4	9			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr14:89206756A>G	ENST00000554922.1	-	5	934	c.686T>C	c.(685-687)aTa>aCa	p.I229T	EML5_ENST00000352093.5_Missense_Mutation_p.I229T|EML5_ENST00000380664.5_Missense_Mutation_p.I229T	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	229						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TATTGTTCGTATAAGATTGAT	0.363													5	47					0	0	0	0	G	89206756	A	G	89206756	3	3	146	1	0	0	0	0	1	0	0	0	5138	449	16	5	5403	5	EML5	14	89206756	Missense_Mutation	SNP	A	TCGA-CQ-6222-01A-11D-1912-08		89206756	18142784	57	27309											
PKD1	5310	broad.mit.edu	37	chr16	2153543	2153543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagacggtgtagttgctgaTatagccaaagggaaagggat	13	8	16	4	1	0	2	0	1	0	1	0	5	0	4	1	4	2	3	1	4	5	4			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr16:2153543T>C	ENST00000262304.4	-	23	8723	c.8515A>G	c.(8515-8517)Atc>Gtc	p.I2839V	PKD1_ENST00000423118.1_Missense_Mutation_p.I2839V|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2839					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAGTTGCTGATATAGCCAAAG	0.612													7	86					0	0	0	0	C	2153543	T	C	2153543	3	2	146	1	0	0	0	0	1	0	0	0	12035	1406	49	5	4492	5	PKD1	16	2153543	Missense_Mutation	SNP	T	TCGA-CQ-6222-01A-11D-1912-08		2153543	88201210	58	27310											
ABCC1	4363	broad.mit.edu	37	chr16	16205306	16205306	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctcagcatcttccttttCatgtgtaaccatgtgtccgc	6	16	6	13	1	3	0	2	0	1	0	6	0	6	0	4	0	2	2	4	0	1	5			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr16:16205306C>T	ENST00000399408.2	+	23	3151	c.2976C>T	c.(2974-2976)ttC>ttT	p.F992F	ABCC1_ENST00000345148.5_Silent_p.F982F|ABCC1_ENST00000346370.5_Silent_p.F926F|ABCC1_ENST00000349029.5_Silent_p.F867F|ABCC1_ENST00000351154.5_Silent_p.F923F|ABCC1_ENST00000399410.3_Silent_p.F982F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	982	ABC transmembrane type-1 2.				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)	TCTTCCTTTTCATGTGTAACC	0.537													13	135					0	0	0	0	T	16205306	C	T	16205306	2	4	146	1	0	0	0	0	0	0	0	1	49	825	29	2		2	ABCC1	16	16205306	Silent	SNP	C	TCGA-CQ-6222-01A-11D-1912-08	14051763	16205306	74149447	59	27311											
CHST6	4166	broad.mit.edu	37	chr16	75512895	75512895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttctgccagcggctcccGcgccaggtcctcgaagcgca	6	7	12	16	5	1	0	0	0	1	0	4	2	3	0	4	2	3	2	4	2	1	1			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr16:75512895G>A	ENST00000332272.4	-	3	1011	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	CHST6_ENST00000390664.2_Missense_Mutation_p.R278W|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	278					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGCGGCTCCCGCGCCAGGTCC	0.667													6	51					0	0	0	0	A	75512895	G	A	75512895	3	1	146	1	0	0	0	0	1	0	0	0	3437	1086	38	1	359	1	CHST6	16	75512895	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	59307589	75512895	14841858	60	27312											
JPH3	57338	broad.mit.edu	37	chr16	87678468	87678468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacggctgcatgaccttcccGgacggcaccaaggaggaggg	9	5	15	12	3	0	1	0	1	0	0	1	4	1	4	3	6	2	3	3	6	2	2	rs150628659		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr16:87678468G>A	ENST00000284262.2	+	2	1229	c.987G>A	c.(985-987)ccG>ccA	p.P329P		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	329					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGACCTTCCCGGACGGCACCA	0.662													5	60					0	0	0	0	A	87678468	G	A	87678468	2	1	146	1	0	0	0	0	0	0	0	1	8015	1103	39	1		1	JPH3	16	87678468	Silent	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	12165573	87678468	2676285	61	27313											
P2RX1	5023	broad.mit.edu	37	chr17	3819509	3819509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccagctcctcctggaacCgccgtgccatggtgggccgg	4	6	15	16	4	0	0	0	0	0	0	2	1	2	1	7	5	3	1	7	5	1	0			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr17:3819509C>T	ENST00000225538.3	-	1	285	c.11G>A	c.(10-12)cGg>cAg	p.R4Q		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	4					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CTCCTGGAACCGCCGTGCCAT	0.642													17	108					0	0	0	0	T	3819509	C	T	3819509	3	4	146	1	0	0	0	0	1	0	0	0	11410	652	23	1	1236	1	P2RX1	17	3819509	Missense_Mutation	SNP	C	TCGA-CQ-6222-01A-11D-1912-08		3819509	77375701	62	27314											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	30					0	0	0	0	A	7577094	G	A	7577094	3	1	146	1	0	0	0	0	1	0	0	0	16476	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	3757585	7577094	73618116	63	27315											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	28					0	0	0	0	A	7578212	G	A	7578212	4	1	146	1	0	0	0	0	0	1	0	0	16476	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	1118	7578212	73616998	64	27316											
COASY	80347	broad.mit.edu	37	chr17	40714773	40714773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcacctgcagccgggcAtgagcctggagggcccggct	6	7	15	13	2	1	1	1	1	0	0	1	2	1	2	4	4	3	4	4	4	0	1			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr17:40714773A>G	ENST00000393818.2	+	1	589	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	COASY_ENST00000590958.1_Missense_Mutation_p.M74V|COASY_ENST00000420359.1_Missense_Mutation_p.M45V|COASY_ENST00000449624.1_Intron|COASY_ENST00000421097.2_Missense_Mutation_p.M45V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	45					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GCAGCCGGGCATGAGCCTGGA	0.662													5	86					0	0	0	0	G	40714773	A	G	40714773	3	3	146	1	0	0	0	0	1	0	0	0	3682	217	8	5	226	5	COASY	17	40714773	Missense_Mutation	SNP	A	TCGA-CQ-6222-01A-11D-1912-08	33136561	40714773	40480437	65	27317											
AXIN2	8313	broad.mit.edu	37	chr17	63537655	63537655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttcttactgcccacaCgataaggaggaattccatct	10	12	8	11	1	2	0	0	0	2	0	3	3	3	2	2	2	2	2	2	2	3	4			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr17:63537655C>T	ENST00000307078.5	-	4	1290	c.977G>A	c.(976-978)cGt>cAt	p.R326H	AXIN2_ENST00000375702.5_Missense_Mutation_p.R326H|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	326					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						ACTGCCCACACGATAAGGAGG	0.478									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				11	85					0	0	0	0	T	63537655	C	T	63537655	3	4	146	1	0	0	0	0	1	0	0	0	1241	536	19	1	1586	1	AXIN2	17	63537655	Missense_Mutation	SNP	C	TCGA-CQ-6222-01A-11D-1912-08	22822882	63537655	17657555	66	27318											
SMAD4	4089	broad.mit.edu	37	chr18	48581208	48581208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgactttgagggacagccatCgttgtccactgaaggacatt	10	11	11	9	1	0	3	0	3	0	0	2	5	1	5	2	2	1	1	2	2	1	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr18:48581208C>T	ENST00000342988.3	+	5	1050	c.512C>T	c.(511-513)tCg>tTg	p.S171L	SMAD4_ENST00000398417.2_Missense_Mutation_p.S171L|SMAD4_ENST00000452201.2_3'UTR|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.S171L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	171					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(3)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGACAGCCATCGTTGTCCACT	0.403													5	51					0	0	0	0	T	48581208	C	T	48581208	3	4	146	1	0	0	0	0	1	0	0	0	14848	893	31	1	526	1	SMAD4	18	48581208	Missense_Mutation	SNP	C	TCGA-CQ-6222-01A-11D-1912-08		48581208	29496040	67	27319											
SMAD4	4089	broad.mit.edu	37	chr18	48581281	48581281	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcatcgacagagacataCagcaccccagctctgttagc	11	7	9	14	2	1	1	0	0	1	1	2	3	1	1	2	0	5	4	2	0	2	2			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr18:48581281C>G	ENST00000342988.3	+	5	1123	c.585C>G	c.(583-585)taC>taG	p.Y195*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Y195*|SMAD4_ENST00000452201.2_3'UTR|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Y195*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	195					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(3)|p.Y195fs*1(1)|p.Y195*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CAGAGACATACAGCACCCCAG	0.483													10	88					0	0	0	0	G	48581281	C	G	48581281	4	3	146	1	0	0	0	0	0	1	0	0	14848	489	17	4	599	4	SMAD4	18	48581281	Nonsense_Mutation	SNP	C	TCGA-CQ-6222-01A-11D-1912-08	73	48581281	29495967	68	27320											
RPS28	6234	broad.mit.edu	37	chr19	8386936	8386936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacccttttggagtcagagCgagaagcccggaggttgcgc	8	8	14	11	3	2	2	2	0	0	2	2	5	2	4	2	3	3	1	2	3	1	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr19:8386936C>G	ENST00000600659.2	+	3	218	c.187C>G	c.(187-189)Cga>Gga	p.R63G		NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	63					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome										GGAGTCAGAGCGAGAAGCCCG	0.592													3	17					0	0	0	0	G	8386936	C	G	8386936	3	3	146	1	0	0	0	0	1	0	0	0	13726	760	27	3	197	3	RPS28	19	8386936	Missense_Mutation	SNP	C	TCGA-CQ-6222-01A-11D-1912-08		8386936	50742047	69	27321											
CYP4F8	11283	broad.mit.edu	37	chr19	15739591	15739591	+	RNA	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctatgaccccttccgcttCgacccagaaaacgcccagaa	11	7	7	16	3	1	3	0	1	1	2	3	4	2	3	5	0	1	1	5	0	4	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr19:15739591C>A	ENST00000441682.2	+	0	1396							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.F444F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTTCCGCTTCGACCCAGAAA	0.602													10	59					4.84862e-15	2.68588e-14	1	0	A	15739591	C	A	15739591	1	1	146	0	1	0	0	0	0	0	0	0	4223	883	31	3		3	CYP4F8	19	15739591	RNA	SNP	C	TCGA-CQ-6222-01A-11D-1912-08	7352655	15739591	43389392	70	27322											
ZNF30	90075	broad.mit.edu	37	chr19	35435248	35435248	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaaccctatgagtgtaagGaatgtggcaaggccttcaga	14	8	12	7	0	1	3	1	1	0	2	1	4	1	4	2	3	1	2	2	3	5	3			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr19:35435248G>T	ENST00000439785.1	+	5	1825	c.1381G>T	c.(1381-1383)Gaa>Taa	p.E461*	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Nonsense_Mutation_p.E460*|ZNF30_ENST00000426813.2_Nonsense_Mutation_p.E379*|ZNF30_ENST00000303586.7_Nonsense_Mutation_p.E461*	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TGAGTGTAAGGAATGTGGCAA	0.428													7	41					2.7689e-08	1.47558e-07	1	0	T	35435248	G	T	35435248	4	4	146	1	0	0	0	0	0	1	0	0	17925	1175	41	2	1395	2	ZNF30	19	35435248	Nonsense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	19695657	35435248	23693735	71	27323											
PIH1D1	55011	broad.mit.edu	37	chr19	49949860	49949860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgagagttgatctgcagcGggatataagcgtctagatga	12	10	13	6	2	2	4	0	3	2	2	2	6	2	5	0	1	3	2	0	1	3	4			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr19:49949860G>A	ENST00000262265.5	-	8	1014	c.779C>T	c.(778-780)cCg>cTg	p.P260L	PIH1D1_ENST00000596049.1_Missense_Mutation_p.P260L|PIH1D1_ENST00000602226.1_5'UTR	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	260					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GATCTGCAGCGGGATATAAGC	0.632													10	101					0	0	0	0	A	49949860	G	A	49949860	3	1	146	1	0	0	0	0	1	0	0	0	11978	1116	39	1	101	1	PIH1D1	19	49949860	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	14514612	49949860	9179123	72	27324											
NRIP1	8204	broad.mit.edu	37	chr21	16339480	16339480	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccattggattttgaaacActgtagcactacttttgcta	11	15	6	9	0	0	1	0	1	0	0	0	2	0	2	1	1	5	3	1	1	5	9			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr21:16339480A>G	ENST00000400202.1	-	3	1746	c.1034T>C	c.(1033-1035)gTg>gCg	p.V345A	NRIP1_ENST00000318948.4_Missense_Mutation_p.V345A|NRIP1_ENST00000400199.1_Missense_Mutation_p.V345A			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	345					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATTTTGAAACACTGTAGCACT	0.393													12	73					0	0	0	0	G	16339480	A	G	16339480	3	3	146	1	0	0	0	0	1	0	0	0	10723	159	6	5	2446	5	NRIP1	21	16339480	Missense_Mutation	SNP	A	TCGA-CQ-6222-01A-11D-1912-08		16339480	31790415	73	27325											
INPP5J	27124	broad.mit.edu	37	chr22	31522415	31522415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcccccagacgatgtcaCatccctcctccacctgggcg	7	7	8	19	2	1	1	1	0	0	1	4	2	4	1	6	1	1	0	6	1	0	0			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr22:31522415C>T	ENST00000331075.5	+	3	1374	c.1325C>T	c.(1324-1326)aCa>aTa	p.T442I	INPP5J_ENST00000404390.3_Missense_Mutation_p.T74I|INPP5J_ENST00000412277.2_Missense_Mutation_p.T375I|INPP5J_ENST00000405300.1_Missense_Mutation_p.T75I|INPP5J_ENST00000400294.2_Missense_Mutation_p.T75I			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	442	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GACGATGTCACATCCCTCCTC	0.637													10	141					0	0	0	0	T	31522415	C	T	31522415	3	4	146	1	0	0	0	0	1	0	0	0	7812	478	17	4	231	4	INPP5J	22	31522415	Missense_Mutation	SNP	C	TCGA-CQ-6222-01A-11D-1912-08		31522415	19782151	74	27326											
SFI1	9814	broad.mit.edu	37	chr22	32007798	32007798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggcacagagactcagccGgacctgcttccgccagtgga	8	6	13	14	2	1	1	1	0	0	1	2	4	2	3	4	3	2	3	4	3	0	1			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr22:32007798G>A	ENST00000432498.1	+	23	2762	c.2369G>A	c.(2368-2370)cGg>cAg	p.R790Q	SFI1_ENST00000443011.1_Missense_Mutation_p.R668Q|SFI1_ENST00000400289.1_Missense_Mutation_p.R739Q|SFI1_ENST00000540643.1_Missense_Mutation_p.R766Q|SFI1_ENST00000443326.1_Missense_Mutation_p.R739Q|SFI1_ENST00000400288.2_Missense_Mutation_p.R821Q|SFI1_ENST00000414585.1_Missense_Mutation_p.R668Q	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	821					G2/M transition of mitotic cell cycle	centriole|cytosol		p.R821Q(1)		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						AGACTCAGCCGGACCTGCTTC	0.617													5	39					0	0	0	0	A	32007798	G	A	32007798	3	1	146	1	0	0	0	0	1	0	0	0	14243	1116	39	1	2552	1	SFI1	22	32007798	Missense_Mutation	SNP	G	TCGA-CQ-6222-01A-11D-1912-08	485383	32007798	19296768	75	27327											
OPN1LW	5956	broad.mit.edu	37	chrX	153421950	153421950	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggctgccctgccggcctActttgccaaaagtgccacta	8	9	10	14	1	0	0	0	0	0	0	0	1	0	0	5	2	5	1	5	2	4	3	rs145631912	byFrequency	TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chrX:153421950A>T	ENST00000369951.4	+	5	986	c.926A>T	c.(925-927)tAc>tTc	p.Y309F		NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	309			Y -> F (in dbSNP:rs1065441).		phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCCGGCCTACTTTGCCAAA	0.537													45	416					0	0	0	0	T	153421950	A	T	153421950	3	4	146	1	0	0	0	0	1	0	0	0	10948	391	14	5	944	5	OPN1LW	23	153421950	Missense_Mutation	SNP	A	TCGA-CQ-6222-01A-11D-1912-08		153421950	1848610	76	27328											
HSPG2	3339	broad.mit.edu	37	chr1	22199894	22199894	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggctggccctggctggggTtgccatagtagccaggggcg	5	8	18	10	1	0	0	0	0	0	0	0	0	0	0	3	7	2	4	3	7	2	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:22199894T>C	ENST00000374695.3	-	30	3846	c.3767A>G	c.(3766-3768)aAc>aGc	p.N1256S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1256	Laminin EGF-like 7.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTGGCTGGGGTTGCCATAGTA	0.587													17	95					0	0	0	0	C	22199894	T	C	22199894	3	2	147	1	0	0	0	0	1	0	0	0	7483	1725	60	5	9680	5	HSPG2	1	22199894	Missense_Mutation	SNP	T	TCGA-CQ-6223-01A-11D-1912-08		22199894	227050727	1	27329											
COL16A1	1307	broad.mit.edu	37	chr1	32154663	32154663	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcaccttctctcctttGatgccttggatgccagggtc	4	14	8	15	0	2	1	1	1	1	0	6	2	4	2	5	2	2	0	5	2	0	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:32154663G>T	ENST00000373672.3	-	24	2160	c.1644C>A	c.(1642-1644)atC>atA	p.I548I	COL16A1_ENST00000271069.6_Silent_p.I548I|COL16A1_ENST00000373668.3_Silent_p.I548I	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	548	Triple-helical region 8 (COL8) with 1 imperfection.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCTCTCCTTTGATGCCTTGGA	0.592													34	72					3.6622e-26	2.19732e-25	1	0	T	32154663	G	T	32154663	2	4	147	1	0	0	0	0	0	0	0	1	3703	1280	45	2		2	COL16A1	1	32154663	Silent	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	9954769	32154663	217095958	2	27330											
INADL	10207	broad.mit.edu	37	chr1	62293185	62293185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttactttggtttgctgtcGgaggttgtttgatgatgaag	6	19	13	3	1	0	3	0	3	0	0	1	4	0	4	0	3	2	4	0	3	2	6			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:62293185G>A	ENST00000371158.2	+	16	2024	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	INADL_ENST00000316485.6_Missense_Mutation_p.R637Q	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	637	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTTTGCTGTCGGAGGTTGTTT	0.443													40	129					0	0	0	0	A	62293185	G	A	62293185	3	1	147	1	0	0	0	0	1	0	0	0	7784	1116	39	1	1968	1	INADL	1	62293185	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	30138522	62293185	186957436	3	27331											
L1TD1	54596	broad.mit.edu	37	chr1	62672650	62672650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaaaaaacagggatggtagGgaaaatagaaggagaaaact	22	4	12	3	0	0	2	0	0	0	2	0	5	0	4	0	4	2	1	0	4	10	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:62672650G>A	ENST00000498273.1	+	3	645	c.350G>A	c.(349-351)gGg>gAg	p.G117E		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	117										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						gggatggtagggaaaatagaa	0.323													17	78					0	0	0	0	A	62672650	G	A	62672650	3	1	147	1	0	0	0	0	1	0	0	0	8642	1232	43	4	352	4	L1TD1	1	62672650	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	379465	62672650	186577971	4	27332											
ALG6	29929	broad.mit.edu	37	chr1	63879798	63879798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggatattttgccacgtCacatccaattaataatgagg	14	13	7	7	1	1	1	1	1	0	0	2	2	2	2	2	2	1	0	2	2	5	6			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:63879798C>A	ENST00000371108.4	+	10	1188	c.883C>A	c.(883-885)Cac>Aac	p.H295N	ALG6_ENST00000263440.4_Missense_Mutation_p.H297N	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	295					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTTGCCACGTCACATCCAATT	0.294													18	41					6.94344e-10	3.77304e-09	1	0	A	63879798	C	A	63879798	3	1	147	1	0	0	0	0	1	0	0	0	522	826	29	2	917	2	ALG6	1	63879798	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	1207148	63879798	185370823	5	27333											
ECM1	1893	broad.mit.edu	37	chr1	150485926	150485926	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatatcagctccacctctGagcccaaggaagaatgagtc	14	7	8	12	0	2	3	1	2	1	1	4	4	3	4	3	1	2	1	3	1	5	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:150485926G>C	ENST00000369047.4	+	10	1731	c.1606G>C	c.(1606-1608)Gag>Cag	p.E536Q	ECM1_ENST00000369049.4_Missense_Mutation_p.E563Q|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.E411Q	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	536					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCACCTCTGAGCCCAAGGA	0.562													4	48					0	0	0	0	C	150485926	G	C	150485926	3	2	147	1	0	0	0	0	1	0	0	0	4933	1291	45	2	1644	2	ECM1	1	150485926	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	86606128	150485926	98764695	6	27334											
TRIM46	80128	broad.mit.edu	37	chr1	155152365	155152365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaacaaggccggctacGgcgaatacagtgaagatgtg	12	6	14	9	3	0	2	0	1	0	1	0	3	0	2	1	3	4	3	1	3	6	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:155152365G>A	ENST00000368382.1	+	8	1611	c.1474G>A	c.(1474-1476)Ggc>Agc	p.G492S	TRIM46_ENST00000368383.3_Missense_Mutation_p.G515S|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000334634.4_Missense_Mutation_p.G515S|TRIM46_ENST00000545012.1_Missense_Mutation_p.G389S|TRIM46_ENST00000368385.4_Missense_Mutation_p.G515S|TRIM46_ENST00000468878.1_3'UTR	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	515	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCCGGCTACGGCGAATACAG	0.657													13	34					0	0	0	0	A	155152365	G	A	155152365	3	1	147	1	0	0	0	0	1	0	0	0	16616	1116	39	1	1573	1	TRIM46	1	155152365	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	4666439	155152365	94098256	7	27335											
CACNA1E	777	broad.mit.edu	37	chr1	181767596	181767596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccacctgctgatggaagcGaggagggctccccgctgacc	7	6	13	15	2	0	2	0	2	0	0	2	5	2	4	5	3	2	3	5	3	1	0			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:181767596G>A	ENST00000526775.1	+	46	6547	c.6382G>A	c.(6382-6384)Gag>Aag	p.E2128K	CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1754K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E2079K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E2171K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E2190K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E2147K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E2141K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2190					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGATGGAAGCGAGGAGGGCTC	0.642													23	50					0	0	0	0	A	181767596	G	A	181767596	3	1	147	1	0	0	0	0	1	0	0	0	2567	1059	37	1	6625	1	CACNA1E	1	181767596	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	26615231	181767596	67483025	8	27336											
PROX1	5629	broad.mit.edu	37	chr1	214171226	214171226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaaaaactcctctgacCagtctgcctccggccctgcc	7	8	7	19	2	2	1	0	1	2	0	5	1	5	1	7	1	3	1	7	1	2	0			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:214171226C>A	ENST00000366958.4	+	2	1956	c.1348C>A	c.(1348-1350)Cag>Aag	p.Q450K	PROX1_ENST00000435016.1_Missense_Mutation_p.Q450K|PROX1_ENST00000261454.4_Missense_Mutation_p.Q450K|PROX1_ENST00000498508.2_Missense_Mutation_p.Q450K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	450					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTCCTCTGACCAGTCTGCCTC	0.642													32	71					6.38683e-12	3.53732e-11	1	0	A	214171226	C	A	214171226	3	1	147	1	0	0	0	0	1	0	0	0	12640	595	21	4	1350	4	PROX1	1	214171226	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	32403630	214171226	35079395	9	27337											
OBSCN	84033	broad.mit.edu	37	chr1	228437860	228437860	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacacggaggctggtggtgCagcaggcatgccaggcggac	8	4	18	11	2	0	0	0	0	0	0	0	2	0	2	1	7	3	5	1	7	0	0			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:228437860C>T	ENST00000570156.2	+	15	4578	c.4504C>T	c.(4504-4506)Cag>Tag	p.Q1502*	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.Q1410*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q1410*|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	480	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGGTGGTGCAGCAGGCATG	0.647													41	92					0	0	0	0	T	228437860	C	T	228437860	4	4	147	1	0	0	0	0	0	1	0	0	10883	711	25	4	4278	4	OBSCN	1	228437860	Nonsense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	14266634	228437860	20812761	10	27338											
CEP170	9859	broad.mit.edu	37	chr1	243333053	243333053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccagatgaagatgtgcCttcctaaaggagaaaaataa	16	9	9	7	0	0	4	0	1	0	3	2	5	2	4	3	1	1	1	3	1	6	4			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:243333053C>T	ENST00000366542.1	-	12	1771	c.1720G>A	c.(1720-1722)Ggc>Agc	p.G574S	CEP170_ENST00000366544.1_Missense_Mutation_p.G476S|CEP170_ENST00000366543.1_Missense_Mutation_p.G476S	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	574						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GAAGATGTGCCTTCCTAAAGG	0.383													6	20					0	0	0	0	T	243333053	C	T	243333053	3	4	147	1	0	0	0	0	1	0	0	0	3279	681	24	4	3100	4	CEP170	1	243333053	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	14895193	243333053	5917568	11	27339											
NLRP3	114548	broad.mit.edu	37	chr1	247588449	247588449	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggaaaactatggcaaattCgaaaaggggtatttgatttt	14	13	10	4	1	0	1	0	1	0	0	1	3	0	2	0	4	1	2	0	4	7	6			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:247588449C>T	ENST00000366497.2	+	4	2484	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.F568F|NLRP3_ENST00000348069.2_Silent_p.F568F|NLRP3_ENST00000336119.3_Silent_p.F568F|NLRP3_ENST00000391828.3_Silent_p.F568F|NLRP3_ENST00000391827.2_Silent_p.F568F	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	568					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATGGCAAATTCGAAAAGGGGT	0.463													16	34					0	0	0	0	T	247588449	C	T	247588449	2	4	147	1	0	0	0	0	0	0	0	1	10548	883	31	1		1	NLRP3	1	247588449	Silent	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	4255396	247588449	1662172	12	27340											
GRHL1	29841	broad.mit.edu	37	chr2	10104143	10104143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaggtgagcagcagtgaagGaatccatcatcccatcagca	13	6	12	10	0	2	2	2	2	0	0	4	4	4	4	2	3	3	3	2	3	2	0			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:10104143G>A	ENST00000324907.9	+	6	1011	c.875G>A	c.(874-876)gGa>gAa	p.G292E	GRHL1_ENST00000324883.5_Missense_Mutation_p.G103E|GRHL1_ENST00000405379.2_Missense_Mutation_p.G292E	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	292					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AGCAGTGAAGGAATCCATCAT	0.473													8	55					0	0	0	0	A	10104143	G	A	10104143	3	1	147	1	0	0	0	0	1	0	0	0	6813	1174	41	2	897	2	GRHL1	2	10104143	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08		10104143	233095230	13	27341											
DNMT3A	1788	broad.mit.edu	37	chr2	25469959	25469959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttgcggtacatgggctgCttgttgtacgtggcctggtg	3	14	16	8	2	0	0	0	0	0	0	0	0	0	0	1	4	4	6	1	4	2	5			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:25469959C>T	ENST00000264709.3	-	9	1420	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	DNMT3A_ENST00000402667.1_Silent_p.K138K|DNMT3A_ENST00000321117.5_Silent_p.K361K|DNMT3A_ENST00000380746.4_Silent_p.K172K	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	361	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATGGGCTGCTTGTTGTACG	0.597			"Mis, F, N, S"		AML								16	26					0	0	0	0	T	25469959	C	T	25469959	2	4	147	1	0	0	0	0	0	0	0	1	4712	796	28	4		4	DNMT3A	2	25469959	Silent	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	15365816	25469959	217729414	14	27342											
SLC5A6	8884	broad.mit.edu	37	chr2	27430151	27430151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcactggtgagatgcaggCggtagaaaacggggatgaag	13	5	18	5	2	0	3	0	2	0	2	0	5	0	4	0	6	2	3	0	6	4	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:27430151C>T	ENST00000310574.3	-	3	841	c.368G>A	c.(367-369)cGc>cAc	p.R123H	SLC5A6_ENST00000408041.1_Missense_Mutation_p.R123H	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	123					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)	GAGATGCAGGCGGTAGAAAAC	0.557													14	29					0	0	0	0	T	27430151	C	T	27430151	3	4	147	1	0	0	0	0	1	0	0	0	14757	768	27	1	1599	1	SLC5A6	2	27430151	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	1960192	27430151	215769222	15	27343											
STEAP3	55240	broad.mit.edu	37	chr2	119988594	119988594	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcacgtcagccggatgtcGcaccagcctgctgttggtaa	7	9	11	14	3	2	0	2	0	0	0	3	1	2	1	4	2	3	4	4	2	1	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:119988594G>A	ENST00000393110.2	+	2	457	c.6G>A	c.(4-6)tcG>tcA	p.S2S	STEAP3_ENST00000354888.5_5'UTR|STEAP3_ENST00000450943.2_5'UTR|STEAP3_ENST00000393108.2_Intron|STEAP3_ENST00000409811.1_Intron|STEAP3_ENST00000393106.2_Intron|STEAP3_ENST00000393107.2_Intron			Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	0					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCCGGATGTCGCACCAGCCTG	0.627													11	24					0	0	0	0	A	119988594	G	A	119988594	2	1	147	1	0	0	0	0	0	0	0	1	15369	1074	38	1		1	STEAP3	2	119988594	Silent	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	92558443	119988594	123210779	16	27344											
SCN1A	6323	broad.mit.edu	37	chr2	166904235	166904235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttgtgtagccataattggGatttctaccagctttcacac	9	14	8	10	0	2	0	1	0	1	0	2	1	2	1	2	1	3	3	2	1	3	7	rs121917923		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:166904235G>T	ENST00000423058.2	-	8	1089	c.1072C>A	c.(1072-1074)Ccc>Acc	p.P358T	SCN1A_ENST00000375405.3_Missense_Mutation_p.P358T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P358T|SCN1A_ENST00000303395.4_Missense_Mutation_p.P358T|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	358			P -> T (in SMEI; dbSNP:rs121917923).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCATAATTGGGATTTCTACCA	0.408													24	68					9.86323e-18	5.73861e-17	1	0	T	166904235	G	T	166904235	3	4	147	1	0	0	0	0	1	0	0	0	14001	1174	41	2	5033	2	SCN1A	2	166904235	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	46915641	166904235	76295138	17	27345											
SCN7A	6332	broad.mit.edu	37	chr2	167298060	167298060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtcatgcatgtgccagCgtgggagttgacagtctttg	10	11	13	7	1	2	1	1	1	1	0	2	2	2	2	1	1	3	2	1	1	2	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:167298060C>A	ENST00000409855.1	-	14	2129	c.2003G>T	c.(2002-2004)cGc>cTc	p.R668L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	668					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CATGTGCCAGCGTGGGAGTTG	0.458													15	46					6.49762e-13	3.66924e-12	1	0	A	167298060	C	A	167298060	3	1	147	1	0	0	0	0	1	0	0	0	14010	768	27	3	3093	3	SCN7A	2	167298060	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	393825	167298060	75901313	18	27346											
TTN	7273	broad.mit.edu	37	chr2	179474008	179474008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgatcatatacagaccatgGtcaggtcggagagaatctcg	12	10	11	8	2	3	3	2	1	1	2	5	5	3	4	1	3	1	0	1	3	3	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:179474008G>C	ENST00000589042.1	-	273	52253	c.52029C>G	c.(52027-52029)gaC>gaG	p.D17343E	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D8403E|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D15702E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D14775E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D8278E|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D8470E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15702	Fibronectin type-III 25.						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)			ACAGACCATGGTCAGGTCGGA	0.433													11	23					0	0	0	0	C	179474008	G	C	179474008	3	2	147	1	0	0	0	0	1	0	0	0	16831	1252	44	4	56024	4	TTN	2	179474008	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	12175948	179474008	63725365	19	27347											
TMEFF2	23671	broad.mit.edu	37	chr2	192922424	192922424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagacatcctcggcatcttCgtcacattctgcaccaaact	10	10	5	16	2	3	1	1	0	2	1	6	1	4	1	3	1	2	2	3	1	1	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:192922424C>T	ENST00000392314.1	-	5	908	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	TMEFF2_ENST00000272771.5_Missense_Mutation_p.E173K			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	173						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TCGGCATCTTCGTCACATTCT	0.378													24	43					0	0	0	0	T	192922424	C	T	192922424	3	4	147	1	0	0	0	0	1	0	0	0	16108	893	31	1	631	1	TMEFF2	2	192922424	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	13448416	192922424	50276949	20	27348											
FN1	2335	broad.mit.edu	37	chr2	216240367	216240367	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaccagtggaggcgtcgaTgaccacaggggagctccgag	9	6	16	10	3	0	1	0	1	0	0	2	5	1	3	3	4	2	2	3	4	1	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:216240367T>G	ENST00000354785.4	-	37	6331	c.5962A>C	c.(5962-5964)Atc>Ctc	p.I1988L	FN1_ENST00000323926.6_Missense_Mutation_p.I1988L|FN1_ENST00000336916.4_Missense_Mutation_p.I1897L|FN1_ENST00000356005.4_Missense_Mutation_p.I1807L|FN1_ENST00000446046.1_Missense_Mutation_p.I1897L|FN1_ENST00000443816.1_Missense_Mutation_p.I1807L|FN1_ENST00000421182.1_Missense_Mutation_p.I1807L|FN1_ENST00000432072.2_Missense_Mutation_p.I1898L|FN1_ENST00000346544.3_Missense_Mutation_p.I1897L|FN1_ENST00000359671.1_Missense_Mutation_p.I1897L|FN1_ENST00000357867.4_Missense_Mutation_p.I1807L|FN1_ENST00000357009.2_Missense_Mutation_p.I1897L|FN1_ENST00000345488.5_Missense_Mutation_p.I1897L			P02751	FINC_HUMAN	fibronectin 1	1897	Binds to FBLN1.|Fibronectin type-III 15.|Heparin-binding 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGGCGTCGATGACCACAGGG	0.428													27	48					0	0	0	0	G	216240367	T	G	216240367	3	3	147	1	0	0	0	0	1	0	0	0	6007	1464	51	5	1511	5	FN1	2	216240367	Missense_Mutation	SNP	T	TCGA-CQ-6223-01A-11D-1912-08	23317943	216240367	26959006	21	27349											
OR5H2	79310	broad.mit.edu	37	chr3	98002593	98002593	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcttttatacaatcataattCctttgctaaatcccattatc	12	18	1	10	0	2	0	1	0	1	0	5	0	4	0	2	0	2	1	2	0	7	8			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr3:98002593C>G	ENST00000355273.2	+	1	862	c.862C>G	c.(862-864)Cct>Gct	p.P288A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AATCATAATTCCTTTGCTAAA	0.318													12	46					0	0	0	0	G	98002593	C	G	98002593	3	3	147	1	0	0	0	0	1	0	0	0	11233	855	30	2	864	2	OR5H2	3	98002593	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08		98002593	100019837	22	27350											
COL6A6	131873	broad.mit.edu	37	chr3	130292872	130292872	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattcagccaaatgacttcaAgaaaatgaaggaatttctgg	16	10	8	7	0	3	3	2	2	1	1	3	4	3	4	1	2	1	0	1	2	6	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr3:130292872A>C	ENST00000358511.6	+	7	3081	c.3050A>C	c.(3049-3051)aAg>aCg	p.K1017T	COL6A6_ENST00000453409.2_Missense_Mutation_p.K1017T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1017	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AATGACTTCAAGAAAATGAAG	0.408													11	47					0	0	0	0	C	130292872	A	C	130292872	3	2	147	1	0	0	0	0	1	0	0	0	3733	72	3	5	3076	5	COL6A6	3	130292872	Missense_Mutation	SNP	A	TCGA-CQ-6223-01A-11D-1912-08	32290279	130292872	67729558	23	27351											
TNK2	10188	broad.mit.edu	37	chr3	195594350	195594350	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccctgggttgctgttgttgGtggagaagttggccttgggg	3	13	18	7	0	0	1	0	0	0	1	0	2	0	1	3	6	1	5	3	6	1	5			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr3:195594350G>C	ENST00000333602.6	-	12	3391	c.2774C>G	c.(2773-2775)aCc>aGc	p.T925S	TNK2_ENST00000381916.2_Missense_Mutation_p.T1003S|TNK2_ENST00000392400.1_Missense_Mutation_p.T925S|TNK2_ENST00000428187.1_Missense_Mutation_p.T957S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	925	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GCTGTTGTTGGTGGAGAAGTT	0.751													14	12					0	0	0	0	C	195594350	G	C	195594350	3	2	147	1	0	0	0	0	1	0	0	0	16412	1261	44	4	358	4	TNK2	3	195594350	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	65301478	195594350	2428080	24	27352											
LIMCH1	22998	broad.mit.edu	37	chr4	41699182	41699182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttaatcacaggtgccGggcagcctacaacattgtga	10	12	10	9	1	1	1	1	1	0	0	1	1	1	1	2	2	4	2	2	2	3	5	rs142431467		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:41699182G>T	ENST00000313860.7	+	27	3286	c.3232G>T	c.(3232-3234)Ggg>Tgg	p.G1078W	LIMCH1_ENST00000511496.1_Missense_Mutation_p.G892W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G1462W|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G911W|LIMCH1_ENST00000515785.1_3'UTR|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G1052W|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G892W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G885W|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G905W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G1064W|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G975W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G897W|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G1051W	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1078					actomyosin structure organization		actin binding|zinc ion binding	p.G1462R(1)|p.G1078R(1)|p.G1462W(1)|p.G1078W(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CACAGGTGCCGGGCAGCCTAC	0.453													21	71					7.88262e-20	4.68082e-19	1	0	T	41699182	G	T	41699182	3	4	147	1	0	0	0	0	1	0	0	0	8851	1116	39	3	3366	3	LIMCH1	4	41699182	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08		41699182	149455094	25	27353											
EPHA5	2044	broad.mit.edu	37	chr4	66361109	66361109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtgggtttccttacttgTgcatgccattgtgggtggat	4	16	13	8	1	0	0	0	0	0	0	2	1	2	1	3	3	3	2	3	3	1	4			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:66361109T>C	ENST00000273854.3	-	4	1663	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.T355A|EPHA5_ENST00000511294.1_Missense_Mutation_p.T355A	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	355					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCCTTACTTGTGCATGCCATT	0.438										TSP Lung(17;0.13)			62	87					0	0	0	0	C	66361109	T	C	66361109	3	2	147	1	0	0	0	0	1	0	0	0	5208	1696	59	5	2110	5	EPHA5	4	66361109	Missense_Mutation	SNP	T	TCGA-CQ-6223-01A-11D-1912-08	24661927	66361109	124793167	26	27354											
ANTXR2	118429	broad.mit.edu	37	chr4	80993706	80993706	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgggccggggaccgctcCgccaccatcctgcggccggg	3	4	16	18	6	0	0	0	0	0	0	2	1	2	1	7	5	2	1	7	5	0	0			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:80993706C>T	ENST00000403729.2	-	1	534	c.9G>A	c.(7-9)gcG>gcA	p.A3A	ANTXR2_ENST00000404191.1_Intron|ANTXR2_ENST00000346652.6_Silent_p.A3A|ANTXR2_ENST00000295465.4_Silent_p.A3A|ANTXR2_ENST00000307333.7_Silent_p.A3A	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	3						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GGGACCGCTCCGCCACCATCC	0.746									Juvenile Hyaline Fibromatosis				5	5					0	0	0	0	T	80993706	C	T	80993706	2	4	147	1	0	0	0	0	0	0	0	1	711	639	23	1		1	ANTXR2	4	80993706	Silent	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	14632597	80993706	110160570	27	27355											
UNC5C	8633	broad.mit.edu	37	chr4	96141216	96141216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatctgactcaaagtcaCgatgattcttccgatacaca	14	12	5	10	2	4	2	2	2	2	0	5	4	5	2	1	0	1	0	1	0	4	5	rs150089453		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:96141216C>T	ENST00000453304.1	-	8	1568	c.1220G>A	c.(1219-1221)cGt>cAt	p.R407H	UNC5C_ENST00000506749.1_Missense_Mutation_p.R426H	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	407					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTCAAAGTCACGATGATTCTT	0.458													20	44					0	0	0	0	T	96141216	C	T	96141216	3	4	147	1	0	0	0	0	1	0	0	0	17089	536	19	1	1611	1	UNC5C	4	96141216	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	15147510	96141216	95013060	28	27356											
FAT1	2195	broad.mit.edu	37	chr4	187584693	187584693	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaagaggcacgacaccctGatcggttgcaaagactgtta	13	8	11	9	2	0	4	0	2	0	2	1	5	0	4	1	2	1	4	1	2	3	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:187584693G>A	ENST00000441802.2	-	3	3549	c.3340C>T	c.(3340-3342)Cag>Tag	p.Q1114*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1114	Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACGACACCCTGATCGGTTGCA	0.448										HNSCC(5;0.00058)			27	53					0	0	0	0	A	187584693	G	A	187584693	4	1	147	1	0	0	0	0	0	1	0	0	5734	1299	45	2	10526	2	FAT1	4	187584693	Nonsense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	91443477	187584693	3569583	29	27357											
RAB3C	115827	broad.mit.edu	37	chr5	57913562	57913562	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttactcatcatcggcaatagCagtgtggggaaaacatcttt	12	12	9	8	1	3	0	2	0	1	0	4	1	3	1	0	3	3	2	0	3	5	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:57913562C>A	ENST00000282878.4	+	2	286	c.117C>A	c.(115-117)agC>agA	p.S39R		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	39					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TCGGCAATAGCAGTGTGGGGA	0.428													12	41					0.000978159	0.00473462	1	0	A	57913562	C	A	57913562	3	1	147	1	0	0	0	0	1	0	0	0	13015	709	25	4	123	4	RAB3C	5	57913562	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08		57913562	123001698	30	27358											
ANKRD32	84250	broad.mit.edu	37	chr5	94027884	94027884	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagatctgctcactcaagTggacggggtgactcctttgc	7	11	13	10	1	3	2	2	1	1	1	4	3	4	3	1	4	2	2	1	4	2	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:94027884T>C	ENST00000265140.5	+	20	3037	c.2618T>C	c.(2617-2619)gTg>gCg	p.V873A		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	873										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CTCACTCAAGTGGACGGGGTG	0.493													23	61					0	0	0	0	C	94027884	T	C	94027884	3	2	147	1	0	0	0	0	1	0	0	0	659	1696	59	5	2692	5	ANKRD32	5	94027884	Missense_Mutation	SNP	T	TCGA-CQ-6223-01A-11D-1912-08	36114322	94027884	86887376	31	27359											
SMAD5	4090	broad.mit.edu	37	chr5	135513140	135513140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttactcagatgggctcccCtctgaaccccatatcttctg	7	12	6	16	0	4	2	1	1	3	1	5	2	5	2	5	1	2	1	5	1	3	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:135513140C>T	ENST00000545279.1	+	9	1727	c.1367C>T	c.(1366-1368)cCt>cTt	p.P456L	SMAD5_ENST00000545620.1_Missense_Mutation_p.P456L|SMAD5_ENST00000514641.2_3'UTR	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	457	MH2.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGGGCTCCCCTCTGAACCCC	0.398													5	12					0	0	0	0	T	135513140	C	T	135513140	3	4	147	1	0	0	0	0	1	0	0	0	14849	681	24	4	1391	4	SMAD5	5	135513140	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	41485256	135513140	45402120	32	27360											
PCDHGA9	56107	broad.mit.edu	37	chr5	140784241	140784241	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactgatggttctactggTgtggagctggcaccccgctc	5	10	12	14	1	1	1	0	1	1	0	2	2	1	2	3	4	2	4	3	4	1	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:140784241T>C	ENST00000573521.1	+	1	1722	c.1722T>C	c.(1720-1722)ggT>ggC	p.G574G	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCTACTGGTGTGGAGCTGG	0.562													43	114					0	0	0	0	C	140784241	T	C	140784241	2	2	147	1	0	0	0	0	0	0	0	1	11632	1683	59	5		5	PCDHGA9	5	140784241	Silent	SNP	T	TCGA-CQ-6223-01A-11D-1912-08	5271101	140784241	40131019	33	27361											
CSNK1A1	1452	broad.mit.edu	37	chr5	148899953	148899953	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaattctactgatcatcTggaaaaaaaagaagggagag	18	9	9	5	0	4	3	2	1	2	2	4	5	4	4	0	2	1	0	0	2	7	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:148899953T>C	ENST00000261798.5	-	4	790		c.e4-2		CSNK1A1_ENST00000377843.2_Splice_Site|CSNK1A1_ENST00000515768.1_Splice_Site|CSNK1A1_ENST00000515435.1_Splice_Site|CSNK1A1_ENST00000504676.1_Splice_Site	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1						cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ACTGATCATCTGGAAAAAAAA	0.303													20	28					0	0	0	0	C	148899953	T	C	148899953	5	2	147	1	0	0	0	0	0	0	1	0	3982	1594	55	5	773	5	CSNK1A1	5	148899953	Splice_Site	SNP	T	TCGA-CQ-6223-01A-11D-1912-08	8115712	148899953	32015307	34	27362											
GALNT10	55568	broad.mit.edu	37	chr5	153789255	153789255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttcaagtggtttatgaCgaagatagcctgggacctgc	10	11	13	7	1	1	2	1	1	0	1	1	5	1	3	2	2	2	2	2	2	4	4	rs147745456		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:153789255C>T	ENST00000297107.6	+	9	1456	c.1319C>T	c.(1318-1320)aCg>aTg	p.T440M	GALNT10_ENST00000377657.3_Missense_Mutation_p.T113M|GALNT10_ENST00000377661.2_Missense_Mutation_p.T378M|SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	440						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			tggTTTATGACGAAGATAGCC	0.597													35	81					0	0	0	0	T	153789255	C	T	153789255	3	4	147	1	0	0	0	0	1	0	0	0	6257	536	19	1	1353	1	GALNT10	5	153789255	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	4889302	153789255	27126005	35	27363											
DOCK2	1794	broad.mit.edu	37	chr5	169474561	169474561	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgaaaatcctcaggccCaaaccagactactttgctgt	13	10	6	12	0	2	2	2	1	0	1	3	2	3	2	3	1	3	1	3	1	4	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:169474561C>A	ENST00000256935.8	+	40	4094	c.4014C>A	c.(4012-4014)ccC>ccA	p.P1338P	DOCK2_ENST00000540750.1_Silent_p.P399P|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.P830P	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1338	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTCAGGCCCAAACCAGACT	0.498													10	45					0.000673444	0.00331542	1	0	A	169474561	C	A	169474561	2	1	147	1	0	0	0	0	0	0	0	1	4723	581	21	4		4	DOCK2	5	169474561	Silent	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	15685306	169474561	11440699	36	27364											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171809084	171809084	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttgtctcaaagaactgCagcacctcatcacactgaga	12	9	8	12	0	4	2	3	1	2	2	5	3	4	2	1	1	3	2	1	1	2	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:171809084C>A	ENST00000311601.5	-	5	527	c.357G>T	c.(355-357)ctG>ctT	p.L119L	SH3PXD2B_ENST00000519643.1_Silent_p.L119L	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	119	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAAGAACTGCAGCACCTCAT	0.582													9	14					0.000978159	0.00473462	1	0	A	171809084	C	A	171809084	2	1	147	1	0	0	0	0	0	0	0	1	14345	697	25	4		4	SH3PXD2B	5	171809084	Silent	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	2334523	171809084	9106176	37	27365											
RREB1	6239	broad.mit.edu	37	chr6	7229324	7229324	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccccatgctctgctcacTggctctgcacaagcagaccc	7	9	8	17	0	3	1	1	0	2	1	4	1	4	1	3	1	4	6	3	1	1	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:7229324T>G	ENST00000379938.2	+	10	1529	c.992T>G	c.(991-993)cTg>cGg	p.L331R	RREB1_ENST00000349384.6_Missense_Mutation_p.L331R|RREB1_ENST00000379933.3_Missense_Mutation_p.L331R|RREB1_ENST00000334984.6_Missense_Mutation_p.L331R	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	331					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTCTGCTCACTGGCTCTGCAC	0.607													16	21					0	0	0	0	G	7229324	T	G	7229324	3	3	147	1	0	0	0	0	1	0	0	0	13764	1580	55	5	1018	5	RREB1	6	7229324	Missense_Mutation	SNP	T	TCGA-CQ-6223-01A-11D-1912-08		7229324	163885743	38	27366											
ZNRD1	30834	broad.mit.edu	37	chr6	30029436	30029436	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgctgtggcttcaacatCaacgttcggggtgagaggct	8	11	13	9	3	2	1	2	1	0	1	4	2	2	1	0	4	2	4	0	4	2	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:30029436C>A	ENST00000332435.5	+	1	406	c.135C>A	c.(133-135)atC>atA	p.I45I	ZNRD1_ENST00000376785.2_Silent_p.I45I|ZNRD1_ENST00000359374.4_Silent_p.I45I|ZNRD1_ENST00000463141.1_3'UTR|ZNRD1_ENST00000376782.2_Silent_p.I45I	NM_170783.2	NP_740753.1	Q9P1U0	RPA12_HUMAN	zinc ribbon domain containing 1	45						nucleolus	DNA-directed RNA polymerase activity|nucleic acid binding|zinc ion binding										GCTTCAACATCAACGTTCGGG	0.602													14	68					6.31663e-08	3.33796e-07	1	0	A	30029436	C	A	30029436	2	1	147	1	0	0	0	0	0	0	0	1	18303	816	29	2		2	ZNRD1	6	30029436	Silent	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	22800112	30029436	141085631	39	27367											
CSNK2B	1460	broad.mit.edu	37	chr6	31636415	31636415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctacatccttaccaaccGtggcatcgcccagatggtga	9	8	9	15	3	0	2	0	1	0	1	2	2	1	2	5	2	3	2	5	2	3	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:31636415G>A	ENST00000375880.2	+	4	393	c.275G>A	c.(274-276)cGt>cAt	p.R92H	CSNK2B_ENST00000375865.2_Missense_Mutation_p.R92H|CSNK2B_ENST00000375885.4_Missense_Mutation_p.R111H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.R92H|CSNK2B_ENST00000375866.2_Missense_Mutation_p.R92H																							CTTACCAACCGTGGCATCGCC	0.537													21	35					0	0	0	0	A	31636415	G	A	31636415	3	1	147	1	0	0	0	0	1	0	0	0	3991	1145	40	1	285	1	CSNK2B	6	31636415	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	1606979	31636415	139478652	40	27368											
KIAA1919	91749	broad.mit.edu	37	chr6	111583600	111583600	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgattggtggatttcttgtCgatgtcatgaattatttttt	7	21	10	3	1	2	2	1	2	1	0	3	4	2	3	0	2	0	0	0	2	2	7			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:111583600C>A	ENST00000368847.4	+	2	521	c.168C>A	c.(166-168)gtC>gtA	p.V56V		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	56					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GATTTCTTGTCGATGTCATGA	0.348													39	85					1.15505e-17	6.65308e-17	1	0	A	111583600	C	A	111583600	2	1	147	1	0	0	0	0	0	0	0	1	8313	871	31	3		3	KIAA1919	6	111583600	Silent	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	79947185	111583600	59531467	41	27369											
RAC1	5879	broad.mit.edu	37	chr7	6426850	6426850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttctctttagagctgtaGgtaaaacttgcctactgatc	9	16	7	9	0	2	2	0	1	2	1	4	2	2	2	1	1	4	3	1	1	5	7			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:6426850G>A	ENST00000348035.4	+	2	256	c.43G>A	c.(43-45)Ggt>Agt	p.G15S	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.G15S	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	15					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TAGAGCTGTAGGTAAAACTTG	0.318													23	70					0	0	0	0	A	6426850	G	A	6426850	3	1	147	1	0	0	0	0	1	0	0	0	13056	1000	35	4	49	4	RAC1	7	6426850	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08		6426850	152711813	42	27370											
CPVL	54504	broad.mit.edu	37	chr7	29035468	29035468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcagaggctggtcataggGtaaaatatgtcctccacctc	10	11	9	11	0	2	1	2	0	1	1	6	1	4	1	3	3	0	2	3	3	4	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:29035468G>A	ENST00000409850.1	-	17	1997	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	CPVL_ENST00000265394.5_Missense_Mutation_p.P451S|CPVL_ENST00000396276.3_Missense_Mutation_p.P451S			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	451					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TGGTCATAGGGTAAAATATGT	0.333													14	21					0	0	0	0	A	29035468	G	A	29035468	3	1	147	1	0	0	0	0	1	0	0	0	3865	1261	44	4	83	4	CPVL	7	29035468	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	22608618	29035468	130103195	43	27371											
LMTK2	22853	broad.mit.edu	37	chr7	97821070	97821070	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtggaacgctctgaagccGaacacaaacagcagagactc	15	4	10	12	2	1	2	0	1	1	1	2	5	1	3	1	1	5	2	1	1	4	0			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:97821070G>A	ENST00000297293.5	+	11	1586	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	431					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTCTGAAGCCGAACACAAACA	0.577													14	40					0	0	0	0	A	97821070	G	A	97821070	2	1	147	1	0	0	0	0	0	0	0	1	8914	1045	37	1		1	LMTK2	7	97821070	Silent	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	68785602	97821070	61317593	44	27372											
SERPINE1	5054	broad.mit.edu	37	chr7	100777046	100777047	+	Frame_Shift_Ins	INS	-	-	A																															accacggggacaccctcagcINSatgttcattgctgcccctta																										TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:100777046_100777047insA	ENST00000223095.4	+	5	928_929	c.771_772insA	c.(769-774)agtgttfs	p.SV257fs	SERPINE1_ENST00000445463.2_Frame_Shift_Ins_p.SV242fs	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	257					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	ACACCCTCAGCATGTTCATTGC	0.54													20	56	---	---	---	---					A	100777047	-	A	100777046	7	5	147	1	0	1	1	0	0	0	0	0	14198	709	25	0	785	0	SERPINE1	7	100777046	Frame_Shift_Ins	INS	-	TCGA-CQ-6223-01A-11D-1912-08	2955976	100777046	58361617	45	27373											
FSCN3	29999	broad.mit.edu	37	chr7	127235813	127235813	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctacacaccacttcttGtcccatgtagaccggctgtt	8	12	6	15	1	2	1	0	0	2	1	3	1	3	1	4	1	1	3	4	1	2	5	rs150163324		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:127235813G>C	ENST00000265825.5	+	2	816	c.597G>C	c.(595-597)ttG>ttC	p.L199F	FSCN3_ENST00000420086.2_Missense_Mutation_p.L65F	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	199						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ACCACTTCTTGTCCCATGTAG	0.562													21	61					0	0	0	0	C	127235813	G	C	127235813	3	2	147	1	0	0	0	0	1	0	0	0	6117	1368	48	4	603	4	FSCN3	7	127235813	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	26458767	127235813	31902850	46	27374											
C7orf49	78996	broad.mit.edu	37	chr7	134853603	134853603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttcattggtgccacattCtttgtagccacctgggctgt	5	14	10	12	0	2	0	1	0	1	0	2	0	2	0	4	2	2	2	4	2	1	5			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:134853603C>G	ENST00000430372.1	-	2	353	c.28G>C	c.(28-30)Gaa>Caa	p.E10Q	C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000393114.3_Missense_Mutation_p.K24N|C7orf49_ENST00000459937.1_5'UTR|C7orf49_ENST00000483029.2_Intron	NM_001243751.1|NM_024033.3	NP_001230680.1|NP_076938.2	Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	133						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GTGCCACATTCTTTGTAGCCA	0.532											OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	134					0	0	0	0	G	134853603	C	G	134853603	3	3	147	1	0	0	0	0	1	0	0	0	2421	912	32	2	413	2	C7orf49	7	134853603	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	7617790	134853603	24285060	47	27375											
FGFR1	2260	broad.mit.edu	37	chr8	38283759	38283759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgctccaggtggcataaCggacctgaggggaaatgcca	11	7	14	9	1	0	2	0	2	0	0	1	4	1	4	3	5	3	2	3	5	2	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:38283759C>T	ENST00000447712.2	-	6	1567	c.626G>A	c.(625-627)cGt>cAt	p.R209H	FGFR1_ENST00000356207.5_Missense_Mutation_p.R120H|FGFR1_ENST00000532791.1_Missense_Mutation_p.R209H|FGFR1_ENST00000397113.2_Missense_Mutation_p.R207H|FGFR1_ENST00000397103.1_Missense_Mutation_p.R118H|FGFR1_ENST00000425967.3_Missense_Mutation_p.R240H|FGFR1_ENST00000397091.5_Missense_Mutation_p.R207H|FGFR1_ENST00000341462.5_Missense_Mutation_p.R210H|FGFR1_ENST00000397108.4_Missense_Mutation_p.R207H|FGFR1_ENST00000326324.6_Missense_Mutation_p.R118H|FGFR1_ENST00000335922.5_Missense_Mutation_p.R201H	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	209	Ig-like C2-type 2.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GGTGGCATAACGGACCTGAGG	0.542		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						49	143					0	0	0	0	T	38283759	C	T	38283759	3	4	147	1	0	0	0	0	1	0	0	0	5908	536	19	1	2134	1	FGFR1	8	38283759	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08		38283759	108080263	48	27376											
ADAM2	2515	broad.mit.edu	37	chr8	39624564	39624564	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcttttgacataaacTgatgggatgaggtaaatgat	12	16	9	4	0	2	4	0	4	2	0	2	5	2	5	0	2	1	1	0	2	4	6			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:39624564T>C	ENST00000265708.4	-	14	1415		c.e14-2		ADAM2_ENST00000521880.1_Splice_Site|ADAM2_ENST00000379853.2_Splice_Site|ADAM2_ENST00000347580.4_Splice_Site	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2						cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGACATAAACTGATGGGATGA	0.333													31	60					0	0	0	0	C	39624564	T	C	39624564	5	2	147	1	0	0	0	0	0	0	1	0	241	1594	55	5	925	5	ADAM2	8	39624564	Splice_Site	SNP	T	TCGA-CQ-6223-01A-11D-1912-08	1340805	39624564	106739458	49	27377											
ST18	9705	broad.mit.edu	37	chr8	53055565	53055565	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaggcctctccaggaaacTttttttcctctaaattttct	9	17	5	10	0	3	1	0	0	3	1	5	2	4	2	3	2	1	0	3	2	4	7			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:53055565T>A	ENST00000276480.7	-	17	2776	c.2093A>T	c.(2092-2094)aAg>aTg	p.K698M		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	698						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCAGGAAACTTTTTTTCCTC	0.428													20	53					0	0	0	0	A	53055565	T	A	53055565	3	1	147	1	0	0	0	0	1	0	0	0	15302	1609	56	5	1090	5	ST18	8	53055565	Missense_Mutation	SNP	T	TCGA-CQ-6223-01A-11D-1912-08	13431001	53055565	93308457	50	27378											
GLI4	2738	broad.mit.edu	37	chr8	144358450	144358450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctcctgaagcaccagCgcatccacacgggcgagaag	10	4	12	15	4	0	2	0	1	0	1	2	3	2	2	3	1	3	4	3	1	2	0			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:144358450C>T	ENST00000340042.1	+	4	692	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Missense_Mutation_p.R203C	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	203						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GAAGCACCAGCGCATCCACAC	0.687													6	15					0	0	0	0	T	144358450	C	T	144358450	3	4	147	1	0	0	0	0	1	0	0	0	6491	768	27	1	617	1	GLI4	8	144358450	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	91302885	144358450	2005572	51	27379											
MAMDC4	158056	broad.mit.edu	37	chr9	139750831	139750831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccgccgccggcccttcCgggtgaggagggcagcccag	4	3	18	16	4	0	1	0	1	0	0	1	2	1	2	6	5	1	1	6	5	0	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr9:139750831C>T	ENST00000445819.1	+	15	1893	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	MAMDC4_ENST00000485732.1_Intron|MAMDC4_ENST00000317446.2_Intron			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	615	MAM 3.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCGGCCCTTCCGGGTGAGGAG	0.662													7	15					0	0	0	0	T	139750831	C	T	139750831	3	4	147	1	0	0	0	0	1	0	0	0	9273	667	23	1		1	MAMDC4	9	139750831	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08		139750831	1462600	52	27380											
DRGX	644168	broad.mit.edu	37	chr10	50594749	50594749	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggcctccagcgcctcCttcttactccgggcttggtc	2	12	11	16	2	1	0	0	0	1	0	5	0	4	0	5	3	3	2	5	3	1	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:50594749C>G	ENST00000374139.2	-	4	400	c.390G>C	c.(388-390)aaG>aaC	p.K130N	DRGX_ENST00000434016.1_Missense_Mutation_p.K135N			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	135					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CCAGCGCCTCCTTCTTACTCC	0.642													20	33					0	0	0	0	G	50594749	C	G	50594749	3	3	147	1	0	0	0	0	1	0	0	0	4799	680	24	4	412	4	DRGX	10	50594749	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08		50594749	84939998	53	27381											
AGAP7	653268	broad.mit.edu	37	chr10	51464881	51464881	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgggttttgtccgcccctgGctgctcccttcccagatgct	2	13	11	15	1	0	1	0	0	0	1	3	1	3	1	5	2	2	4	5	2	0	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:51464881G>A	ENST00000374095.5	-	7	1700	c.1575C>T	c.(1573-1575)agC>agT	p.S525S		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	525	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCCGCCCCTGGCTGCTCCCTT	0.537													6	193					0	0	0	0	A	51464881	G	A	51464881	2	1	147	1	0	0	0	0	0	0	0	1	373	1194	42	4		4	AGAP7	10	51464881	Silent	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	870132	51464881	84069866	54	27382											
RUFY2	55680	broad.mit.edu	37	chr10	70138405	70138405	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacattgcaattgtcctagTttgagttaacaaatcgttgt	11	16	8	6	1	0	2	0	2	0	0	2	2	1	2	1	0	2	4	1	0	4	6			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:70138405T>C	ENST00000399200.2	-	12	1230	c.1126A>G	c.(1126-1128)Act>Gct	p.T376A	RUFY2_ENST00000602465.1_Intron|RUFY2_ENST00000388768.2_Intron|RUFY2_ENST00000454950.2_Missense_Mutation_p.T352A	NM_001042417.1	NP_001035882.1	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	276						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ATTGTCCTAGTTTGAGTTAAC	0.353													6	16					0	0	0	0	C	70138405	T	C	70138405	3	2	147	1	0	0	0	0	1	0	0	0	13824	1725	60	5	729	5	RUFY2	10	70138405	Missense_Mutation	SNP	T	TCGA-CQ-6223-01A-11D-1912-08	18673524	70138405	65396342	55	27383											
PRF1	5551	broad.mit.edu	37	chr10	72358804	72358804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacccagctccacagcccGgatgaagtgggtgccgtagt	8	6	13	14	2	0	1	0	1	0	0	1	2	1	2	5	2	3	2	5	2	2	1	rs28933973		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:72358804G>A	ENST00000441259.1	-	3	833	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PRF1_ENST00000373209.2_Missense_Mutation_p.R225W	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	225	MACPF.		R -> W (in FHL2; dbSNP:rs28933973).		apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCCACAGCCCGGATGAAGTGG	0.657			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				13	35					0	0	0	0	A	72358804	G	A	72358804	3	1	147	1	0	0	0	0	1	0	0	0	12558	1115	39	1	998	1	PRF1	10	72358804	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	2220399	72358804	63175943	56	27384											
TMEM180	79847	broad.mit.edu	37	chr10	104229810	104229810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttggctcagtgaccggCagttcctcagctcccagccc	5	9	11	16	2	2	1	2	1	0	0	5	1	4	1	4	3	2	5	4	3	0	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:104229810C>A	ENST00000238936.4	+	4	466	c.229C>A	c.(229-231)Cag>Aag	p.Q77K	TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.Q77K	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	77						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAGTGACCGGCAGTTCCTCAG	0.592													20	20					1.37657e-19	8.09083e-19	1	0	A	104229810	C	A	104229810	3	1	147	1	0	0	0	0	1	0	0	0	16193	711	25	4	235	4	TMEM180	10	104229810	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	31871006	104229810	31304937	57	27385											
CDHR5	53841	broad.mit.edu	37	chr11	621590	621590	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctggagggtgtagaacAgaatgtcgtccttgtcgcgg	7	12	14	8	3	0	2	0	0	0	2	4	3	2	3	2	3	1	1	2	3	3	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:621590A>C	ENST00000358353.3	-	6	801	c.479T>G	c.(478-480)cTg>cGg	p.L160R	CDHR5_ENST00000349570.7_Missense_Mutation_p.L160R|CDHR5_ENST00000397542.2_Missense_Mutation_p.L160R			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	160	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGTGTAGAACAGAATGTCGTC	0.647													23	73					0	0	0	0	C	621590	A	C	621590	3	2	147	1	0	0	0	0	1	0	0	0	3151	188	7	5	2102	5	CDHR5	11	621590	Missense_Mutation	SNP	A	TCGA-CQ-6223-01A-11D-1912-08		621590	134384926	58	27386											
CPT1A	1374	broad.mit.edu	37	chr11	68562283	68562283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgcctactggtttgatttCctcccggtccagtttgcgcc	3	16	9	13	2	0	1	0	1	0	0	3	1	3	1	5	2	3	2	5	2	1	5			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:68562283C>T	ENST00000265641.5	-	8	1022	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	CPT1A_ENST00000376618.2_Missense_Mutation_p.E290K|CPT1A_ENST00000538994.1_Missense_Mutation_p.E42K|CPT1A_ENST00000539743.1_Missense_Mutation_p.E290K|CPT1A_ENST00000540367.1_Missense_Mutation_p.E290K	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	290					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTTTGATTTCCTCCCGGTCC	0.408													32	66					0	0	0	0	T	68562283	C	T	68562283	3	4	147	1	0	0	0	0	1	0	0	0	3861	864	30	2	1541	2	CPT1A	11	68562283	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	67940693	68562283	66444233	59	27387											
ABCG4	64137	broad.mit.edu	37	chr11	119029297	119029297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctacggttcatgtcccacGtggttattggcgtgctcatc	6	13	10	12	3	2	0	2	0	0	0	4	0	3	0	2	3	2	3	2	3	2	4			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:119029297G>A	ENST00000307417.3	+	11	1562	c.1198G>A	c.(1198-1200)Gtg>Atg	p.V400M	ABCG4_ENST00000531739.1_Missense_Mutation_p.V400M|ABCG4_ENST00000449422.2_Missense_Mutation_p.V400M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	400	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CATGTCCCACGTGGTTATTGG	0.562													57	156					0	0	0	0	A	119029297	G	A	119029297	3	1	147	1	0	0	0	0	1	0	0	0	70	1145	40	1	1236	1	ABCG4	11	119029297	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	50467014	119029297	15977219	60	27388											
CBL	867	broad.mit.edu	37	chr11	119169109	119169109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccatgccaacactggtcccGaggagtcagaaaatgaggat	13	6	11	11	1	1	2	1	1	0	1	2	5	2	4	3	3	2	0	3	3	3	0			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:119169109G>A	ENST00000264033.4	+	15	2669	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	765	Asp/Glu-rich (acidic).|Interaction with CD2AP.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CACTGGTCCCGAGGAGTCAGA	0.507			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				14	64					0	0	0	0	A	119169109	G	A	119169109	3	1	147	1	0	0	0	0	1	0	0	0	2725	1059	37	1	2351	1	CBL	11	119169109	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	139812	119169109	15837407	61	27389											
OR6T1	219874	broad.mit.edu	37	chr11	123813951	123813951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacgtagagagcatgaaagCcaccagtttcagcaggtggg	13	6	13	9	1	1	2	1	1	0	1	1	3	1	2	2	2	4	4	2	2	3	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:123813951C>A	ENST00000321252.2	-	1	629	c.595G>T	c.(595-597)Gct>Tct	p.A199S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A199S(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGCATGAAAGCCACCAGTTTC	0.547													23	45					2.21704e-12	1.23982e-11	1	0	A	123813951	C	A	123813951	3	1	147	1	0	0	0	0	1	0	0	0	11281	739	26	4	379	4	OR6T1	11	123813951	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	4644842	123813951	11192565	62	27390											
VWA5A	4013	broad.mit.edu	37	chr11	123993788	123993788	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgctcgggaagtatgcagagCcccatgagtagccaggatac	11	6	13	11	2	0	2	0	1	0	1	1	4	0	4	3	2	4	4	3	2	4	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:123993788C>T	ENST00000456829.2	+	8	1133	c.882C>T	c.(880-882)agC>agT	p.S294S	VWA5A_ENST00000392744.4_Silent_p.S310S|VWA5A_ENST00000361352.5_Silent_p.S294S|VWA5A_ENST00000360334.4_Silent_p.S294S|VWA5A_ENST00000449321.1_Silent_p.S294S|VWA5A_ENST00000392748.1_Silent_p.S294S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	294	VWFA.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GTATGCAGAGCCCCATGAGTA	0.463													7	21					0	0	0	0	T	123993788	C	T	123993788	2	4	147	1	0	0	0	0	0	0	0	1	17338	738	26	4		4	VWA5A	11	123993788	Silent	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	179837	123993788	11012728	63	27391											
SYT10	341359	broad.mit.edu	37	chr12	33559823	33559823	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccccaatcatgtcatgTctagaaaatctgtcaaaatc	14	12	4	11	0	5	1	3	0	2	1	7	1	6	1	2	0	0	0	2	0	6	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:33559823T>C	ENST00000228567.3	-	3	1274	c.978A>G	c.(976-978)agA>agG	p.R326R	SYT10_ENST00000535526.1_Silent_p.R145R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	326	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCATGTCATGTCTAGAAAATC	0.368													19	30					0	0	0	0	C	33559823	T	C	33559823	2	2	147	1	0	0	0	0	0	0	0	1	15557	1664	58	5		5	SYT10	12	33559823	Silent	SNP	T	TCGA-CQ-6223-01A-11D-1912-08		33559823	100292072	64	27392											
ASB8	140461	broad.mit.edu	37	chr12	48543326	48543326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catagctgcgggtctctggcCacctctcgtggcatggtgcc	4	10	13	14	2	2	0	0	0	2	0	4	0	2	0	3	4	3	2	3	4	1	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:48543326C>T	ENST00000317697.3	-	4	859	c.690G>A	c.(688-690)gtG>gtA	p.V230V	ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Silent_p.V230V|ASB8_ENST00000536953.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	230					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GGTCTCTGGCCACCTCTCGTG	0.532													19	44					0	0	0	0	T	48543326	C	T	48543326	2	4	147	1	0	0	0	0	0	0	0	1	1033	581	21	4		4	ASB8	12	48543326	Silent	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	14983503	48543326	85308569	65	27393											
ACACB	32	broad.mit.edu	37	chr12	109634899	109634899	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccggctgaatgatgggggGctcctgctctcctacaatgg	7	9	13	12	1	1	2	0	2	1	0	3	2	2	2	3	5	2	3	3	5	3	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:109634899G>A	ENST00000338432.7	+	17	2687	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G	ACACB_ENST00000377854.5_Silent_p.G856G|ACACB_ENST00000377848.3_Silent_p.G856G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	856					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ATGATGGGGGGCTCCTGCTCT	0.587													20	31					0	0	0	0	A	109634899	G	A	109634899	2	1	147	1	0	0	0	0	0	0	0	1	107	1190	42	4		4	ACACB	12	109634899	Silent	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	61091573	109634899	24216996	66	27394											
RIMBP2	23504	broad.mit.edu	37	chr12	130912862	130912862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctctgtgtggtactcGtctccatggcaacagtgcgg	5	12	12	12	2	2	0	0	0	2	0	5	0	2	0	1	3	4	3	1	3	2	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:130912862G>A	ENST00000261655.4	-	12	2386	c.2223C>T	c.(2221-2223)gaC>gaT	p.D741D		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	741						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGTGGTACTCGTCTCCATGGC	0.587													28	54					0	0	0	0	A	130912862	G	A	130912862	2	1	147	1	0	0	0	0	0	0	0	1	13446	1136	40	1		1	RIMBP2	12	130912862	Silent	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	21277963	130912862	2939033	67	27395											
FREM2	341640	broad.mit.edu	37	chr13	39265021	39265021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagagacagttcttcccCattgtaatcattcccaccaa	12	11	5	13	0	3	2	2	0	1	2	5	3	5	2	4	0	0	2	4	0	2	5			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr13:39265021C>T	ENST00000280481.7	+	1	3756	c.3540C>T	c.(3538-3540)ccC>ccT	p.P1180P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1180					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTTCTTCCCCATTGTAATCA	0.423													67	103					0	0	0	0	T	39265021	C	T	39265021	2	4	147	1	0	0	0	0	0	0	0	1	6093	581	21	4		4	FREM2	13	39265021	Silent	SNP	C	TCGA-CQ-6223-01A-11D-1912-08		39265021	75904857	68	27396											
PCDH20	64881	broad.mit.edu	37	chr13	61986231	61986231	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccatccatttcgtccagcGtcagcatctgttacactaat	10	12	5	14	2	2	0	1	0	1	0	5	0	4	0	3	0	3	2	3	0	2	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr13:61986231G>A	ENST00000409186.1	-	5	4106	c.2001C>T	c.(1999-2001)gaC>gaT	p.D667D	PCDH20_ENST00000409204.4_Silent_p.D667D			Q8N6Y1	PCD20_HUMAN	protocadherin 20	640	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTCGTCCAGCGTCAGCATCTG	0.448													29	49					0	0	0	0	A	61986231	G	A	61986231	2	1	147	1	0	0	0	0	0	0	0	1	11586	1136	40	1		1	PCDH20	13	61986231	Silent	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	22721210	61986231	53183647	69	27397											
KLHL1	57626	broad.mit.edu	37	chr13	70456525	70456525	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgcatggaagatggtttCttcatcaggaacattgacat	13	12	9	7	0	3	2	2	1	1	1	3	4	3	4	0	3	2	2	0	3	3	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr13:70456525C>A	ENST00000377844.4	-	5	1876	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*	KLHL1_ENST00000545028.1_Nonsense_Mutation_p.E180*	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	373					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.E373*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGATGGTTTCTTCATCAGGA	0.418													9	43					0.000274275	0.00136192	1	0	A	70456525	C	A	70456525	4	1	147	1	0	0	0	0	0	1	0	0	8417	922	32	2	1157	2	KLHL1	13	70456525	Nonsense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	8470294	70456525	44713353	70	27398											
TPPP2	122664	broad.mit.edu	37	chr14	21500154	21500154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaagggcaagggcattgCgggacgggaagagatgactg	11	5	19	6	2	0	2	0	1	0	1	0	5	0	4	0	5	1	3	0	5	3	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr14:21500154C>A	ENST00000321760.6	+	4	579	c.431C>A	c.(430-432)gCg>gAg	p.A144E	TPPP2_ENST00000530140.2_Missense_Mutation_p.A144E|NDRG2_ENST00000403829.3_Intron	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	144						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AAGGGCATTGCGGGACGGGAA	0.537													18	45					1.33834e-09	7.1378e-09	1	0	A	21500154	C	A	21500154	3	1	147	1	0	0	0	0	1	0	0	0	16509	768	27	3	441	3	TPPP2	14	21500154	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08		21500154	85849386	71	27399											
TRIP11	9321	broad.mit.edu	37	chr14	92470836	92470836	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctcgaatgatacgtgataAattctgaatagtttctctaa	13	16	6	6	2	3	3	0	3	3	0	5	4	3	3	0	0	1	1	0	0	7	7			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr14:92470836A>C	ENST00000267622.4	-	11	3857	c.3484T>G	c.(3484-3486)Tta>Gta	p.L1162V		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1162					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ATACGTGATAAATTCTGAATA	0.343			T	PDGFRB	AML								20	23					0	0	0	0	C	92470836	A	C	92470836	3	2	147	1	0	0	0	0	1	0	0	0	16650	11	1	5	2499	5	TRIP11	14	92470836	Missense_Mutation	SNP	A	TCGA-CQ-6223-01A-11D-1912-08	70970682	92470836	14878704	72	27400											
PPP1R13B	23368	broad.mit.edu	37	chr14	104206647	104206647	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgctttttcaggggccgGggcgcgttggccagcttcct	2	11	15	13	4	1	0	1	0	0	0	2	0	2	0	3	5	2	3	3	5	0	4			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr14:104206647G>C	ENST00000202556.9	-	12	2388	c.2106C>G	c.(2104-2106)ccC>ccG	p.P702P	PPP1R13B_ENST00000423488.2_Silent_p.P121P|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	702	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCAGGGGCCGGGGCGCGTTGG	0.667													40	92					0	0	0	0	C	104206647	G	C	104206647	2	2	147	1	0	0	0	0	0	0	0	1	12433	1219	43	4		4	PPP1R13B	14	104206647	Silent	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	11735811	104206647	3142893	73	27401											
HERC2	8924	broad.mit.edu	37	chr15	28483835	28483835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagtccagaagcctccatCtttattatggttctccaaat	11	13	5	12	0	2	1	0	0	2	1	5	1	4	1	4	1	1	1	4	1	4	4			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:28483835C>T	ENST00000261609.7	-	24	3769	c.3661G>A	c.(3661-3663)Gat>Aat	p.D1221N		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1221	Cytochrome b5 heme-binding.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCCTCCATCTTTATTATGG	0.378													22	36					0	0	0	0	T	28483835	C	T	28483835	3	4	147	1	0	0	0	0	1	0	0	0	7108	913	32	2	11123	2	HERC2	15	28483835	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08		28483835	74047557	74	27402											
SPTBN5	51332	broad.mit.edu	37	chr15	42150939	42150939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttcttctccctcagccacGcagccacctgggcacatggg	6	8	11	16	1	3	0	1	0	2	0	4	0	3	0	4	3	2	3	4	3	0	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:42150939G>A	ENST00000320955.6	-	49	8314	c.8087C>T	c.(8086-8088)gCg>gTg	p.A2696V		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2696					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTCAGCCACGCAGCCACCTG	0.622													6	7					0	0	0	0	A	42150939	G	A	42150939	3	1	147	1	0	0	0	0	1	0	0	0	15212	1087	38	1	3017	1	SPTBN5	15	42150939	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	13667104	42150939	60380453	75	27403											
PLA2G4F	255189	broad.mit.edu	37	chr15	42437772	42437772	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcggggtcgctaccctcaCctgtgatattcacactgcct	6	11	9	15	2	2	1	2	1	0	0	4	1	2	1	3	2	2	2	3	2	2	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:42437772C>A	ENST00000397272.3	-	16	1878		c.e16+1		PLA2G4F_ENST00000382396.4_Splice_Site	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF						phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCTACCCTCACCTGTGATATT	0.602													17	102					5.35267e-07	2.7776e-06	1	0	A	42437772	C	A	42437772	5	1	147	1	0	0	0	0	0	0	1	0	12078	521	18	4	788	4	PLA2G4F	15	42437772	Splice_Site	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	286833	42437772	60093620	76	27404											
PTPN9	5780	broad.mit.edu	37	chr15	75798125	75798125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaccaactcttggatggTcatagcatggggacctggaa	10	9	12	10	0	2	0	1	0	1	0	3	3	3	3	3	5	2	1	3	5	3	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:75798125T>C	ENST00000306726.2	-	7	1371	c.859A>G	c.(859-861)Acc>Gcc	p.T287A	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	287						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTGGATGGTCATAGCATGG	0.502													3	65					0	0	0	0	C	75798125	T	C	75798125	3	2	147	1	0	0	0	0	1	0	0	0	12876	1667	58	5	950	5	PTPN9	15	75798125	Missense_Mutation	SNP	T	TCGA-CQ-6223-01A-11D-1912-08	33360353	75798125	26733267	77	27405											
RASGRF1	5923	broad.mit.edu	37	chr15	79317766	79317766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggagagagaccccaggcGccccctggtgatcttgccct	7	7	13	14	1	1	3	0	1	1	2	1	5	1	3	5	3	1	0	5	3	1	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:79317766G>A	ENST00000419573.3	-	10	1706	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R478C	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	478	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GACCCCAGGCGCCCCCTGGTG	0.557													25	43					0	0	0	0	A	79317766	G	A	79317766	3	1	147	1	0	0	0	0	1	0	0	0	13154	1087	38	1	2465	1	RASGRF1	15	79317766	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	3519641	79317766	23213626	78	27406											
CHD2	1106	broad.mit.edu	37	chr15	93563349	93563349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgagcagcactggtacaagGaccaccattatggggaccgg	12	6	13	10	1	0	1	0	1	0	0	0	3	0	3	3	5	3	3	3	5	3	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:93563349G>T	ENST00000394196.4	+	38	6082	c.5014G>T	c.(5014-5016)Gac>Tac	p.D1672Y	CHD2_ENST00000557381.1_Missense_Mutation_p.D1672Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1672					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTGGTACAAGGACCACCATTA	0.527													11	27					1.05317e-09	5.6694e-09	1	0	T	93563349	G	T	93563349	3	4	147	1	0	0	0	0	1	0	0	0	3354	1174	41	2	5164	2	CHD2	15	93563349	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	14245583	93563349	8968043	79	27407											
NKD1	85407	broad.mit.edu	37	chr16	50667423	50667423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgcggtgtccccctccGcccacctggctgccagcccg	2	7	10	22	3	0	0	0	0	0	0	3	0	3	0	8	2	3	1	8	2	0	0			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:50667423G>A	ENST00000268459.3	+	10	1368	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	382					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GTCCCCCTCCGCCCACCTGGC	0.716													7	15					0	0	0	0	A	50667423	G	A	50667423	3	1	147	1	0	0	0	0	1	0	0	0	10511	1087	38	1	1182	1	NKD1	16	50667423	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08		50667423	39687330	80	27408											
CSNK2A2	1459	broad.mit.edu	37	chr16	58202514	58202514	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctggctgtaatggtacCtttttctgttggtgatctat	5	18	10	8	0	2	1	0	1	2	0	2	1	2	1	2	3	2	4	2	3	3	6			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:58202514C>T	ENST00000262506.3	-	6	696	c.513_splice	c.e6+1	p.K171_splice	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	171	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GTAATGGTACCTTTTTCTGTT	0.463													23	27					0	0	0	0	T	58202514	C	T	58202514	5	4	147	1	0	0	0	0	0	0	1	0	3990	695	24	4	563	4	CSNK2A2	16	58202514	Splice_Site	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	7535091	58202514	32152239	81	27409											
BCMO1	53630	broad.mit.edu	37	chr16	81301576	81301576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctgctccatcccatcccGctccctgctctccccaagct	4	11	5	21	1	2	0	0	0	2	0	7	0	6	0	6	0	3	5	6	0	1	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:81301576G>A	ENST00000258168.2	+	6	1144	c.683G>A	c.(682-684)cGc>cAc	p.R228H	BCMO1_ENST00000425577.2_Missense_Mutation_p.R159H	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	228					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ATCCCATCCCGCTCCCTGCTC	0.527													27	48					0	0	0	0	A	81301576	G	A	81301576	3	1	147	1	0	0	0	0	1	0	0	0	1388	1087	38	1	705	1	BCMO1	16	81301576	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	23099062	81301576	9053177	82	27410											
ZC3H18	124245	broad.mit.edu	37	chr16	88643837	88643837	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcgaggaggagggggaCgaaggggaggaagaccggac	11	1	21	8	3	0	1	0	0	0	1	0	9	0	7	2	8	1	0	2	8	2	0			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:88643837C>T	ENST00000301011.5	+	2	506	c.306C>T	c.(304-306)gaC>gaT	p.D102D	ZC3H18_ENST00000452588.2_Silent_p.D102D	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	102						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGGAGGGGGACGAAGGGGAGG	0.617													11	17					0	0	0	0	T	88643837	C	T	88643837	2	4	147	1	0	0	0	0	0	0	0	1	17663	535	19	1		1	ZC3H18	16	88643837	Silent	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	7342261	88643837	1710916	83	27411											
TP53	7157	broad.mit.edu	37	chr17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgcttgtagatggccatgGcgcggacgcgggtgccgggc	5	7	18	11	5	0	1	0	0	0	1	0	2	0	2	2	5	2	2	2	5	1	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr17:7578454G>A	ENST00000420246.2	-	5	608	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000269305.4_Missense_Mutation_p.A159V|TP53_ENST00000359597.4_Missense_Mutation_p.A159V|TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGCCATGGCGCGGACGCG	0.627		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	22					0	0	0	0	A	7578454	G	A	7578454	3	1	147	1	0	0	0	0	1	0	0	0	16476	1203	42	4	822	4	TP53	17	7578454	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08		7578454	73616756	84	27412											
KRT33B	3884	broad.mit.edu	37	chr17	39521652	39521652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatgcccacctgcgtggCgaaccattgctccacttccc	7	10	8	16	2	0	1	0	0	0	1	2	2	2	1	5	1	4	1	5	1	2	3	rs148300082	byFrequency	TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr17:39521652C>T	ENST00000251646.3	-	4	791	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	248	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.627													7	41					0	0	0	0	T	39521652	C	T	39521652	3	4	147	1	0	0	0	0	1	0	0	0	8522	768	27	1	488	1	KRT33B	17	39521652	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	31943198	39521652	41673558	85	27413											
SDK2	54549	broad.mit.edu	37	chr17	71395327	71395327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcttccaccagccagcGggagatggaggttttcccat	7	9	13	12	1	0	1	0	0	0	1	2	3	2	2	4	4	2	2	4	4	0	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr17:71395327G>A	ENST00000392650.3	-	22	3073	c.3073C>T	c.(3073-3075)Cgc>Tgc	p.R1025C	SDK2_ENST00000388726.3_Missense_Mutation_p.R1025C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1025	Fibronectin type-III 5.				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						ACCAGCCAGCGGGAGATGGAG	0.632													15	24					0	0	0	0	A	71395327	G	A	71395327	3	1	147	1	0	0	0	0	1	0	0	0	14056	1116	39	1	3541	1	SDK2	17	71395327	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	31873675	71395327	9799883	86	27414											
RBBP8	5932	broad.mit.edu	37	chr18	20555133	20555133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtgaatgaaaggaatactCtacaggaagaaaataaaaag	23	6	9	3	0	1	3	0	2	1	1	1	5	1	5	0	2	2	0	0	2	12	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr18:20555133C>G	ENST00000399722.2	+	6	730	c.379C>G	c.(379-381)Cta>Gta	p.L127V	RBBP8_ENST00000360790.5_Missense_Mutation_p.L127V|RBBP8_ENST00000399725.2_Missense_Mutation_p.L127V|RBBP8_ENST00000327155.5_Missense_Mutation_p.L127V	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	127					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAGGAATACTCTACAGGAAGA	0.269								Homologous recombination					5	11					0	0	0	0	G	20555133	C	G	20555133	3	3	147	1	0	0	0	0	1	0	0	0	13187	912	32	2	397	2	RBBP8	18	20555133	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08		20555133	57522115	87	27415											
PPAN	56342	broad.mit.edu	37	chr19	10225151	10225152	+	Frame_Shift_Del	DEL	AT	AT	-																															gctgcccgagctttgcagacAtagcccaggccacagcagcc																								rs151191595		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:10225151_10225152delAT	ENST00000556468.1	+	13	2149_2150	c.2122_2123delAT	c.(2122-2124)afs	p.I708fs	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Frame_Shift_Del_p.I708fs|P2RY11_ENST00000321826.4_Frame_Shift_Del_p.I288fs					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CTTTGCAGACATAGCCCAGGCC	0.658													21	20	---	---	---	---					-	10225152	AT	-	10225151	7	5	147	1	0	1	0	1	0	0	0	0	12359	217	8	0		0	PPAN	19	10225151	Frame_Shift_Del	DEL	AT	TCGA-CQ-6223-01A-11D-1912-08		10225151	48903832	88	27416											
PDE4C	5143	broad.mit.edu	37	chr19	18329002	18329002	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccccaggatggtccacGtcgtggatggcgcttgcaaa	9	7	14	11	3	0	1	0	0	0	1	2	4	1	3	3	4	1	2	3	4	1	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:18329002G>A	ENST00000355502.3	-	15	2158	c.1287C>T	c.(1285-1287)gaC>gaT	p.D429D	PDE4C_ENST00000262805.11_Silent_p.D397D|PDE4C_ENST00000594617.2_Silent_p.D429D|PDE4C_ENST00000447275.2_Silent_p.D323D|PDE4C_ENST00000539010.1_Silent_p.D198D|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Silent_p.D429D			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	429					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GATGGTCCACGTCGTGGATGG	0.592													20	41					0	0	0	0	A	18329002	G	A	18329002	2	1	147	1	0	0	0	0	0	0	0	1	11712	1136	40	1		1	PDE4C	19	18329002	Silent	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	8103851	18329002	40799981	89	27417											
ZNF829	374899	broad.mit.edu	37	chr19	37382576	37382576	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtttttcatctgtatggaTtctctgatgttgaataagtt	8	20	9	4	0	3	2	1	2	2	0	4	3	3	3	0	2	0	4	0	2	3	7			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:37382576T>C	ENST00000520965.1	-	6	1426	c.1360A>G	c.(1360-1362)Atc>Gtc	p.I454V	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.I373V|ZNF345_ENST00000526123.1_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGTATGGATTCTCTGATGT	0.373													9	19					0	0	0	0	C	37382576	T	C	37382576	3	2	147	1	0	0	0	0	1	0	0	0	18275	1493	52	5	185	5	ZNF829	19	37382576	Missense_Mutation	SNP	T	TCGA-CQ-6223-01A-11D-1912-08	19053574	37382576	21746407	90	27418											
CEACAM5	1048	broad.mit.edu	37	chr19	42224848	42224848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttgttccagatgggcCggacacccccatcatttccc	6	12	7	16	1	2	1	1	0	1	1	5	2	4	2	5	2	0	1	5	2	0	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:42224848C>A	ENST00000221992.6	+	8	1892	c.1778C>A	c.(1777-1779)cCg>cAg	p.P593Q	CEACAM5_ENST00000405816.1_Missense_Mutation_p.P593Q|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P592Q	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	593	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCAGATGGGCCGGACACCCCC	0.552													33	141					2.80507e-11	1.53878e-10	1	0	A	42224848	C	A	42224848	3	1	147	1	0	0	0	0	1	0	0	0	3224	652	23	3	1808	3	CEACAM5	19	42224848	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	4842272	42224848	16904135	91	27419											
SULT2A1	6822	broad.mit.edu	37	chr19	48374806	48374806	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggccactgtgaagtgatttTtccagtccccagatacacct	9	11	9	12	0	0	3	0	2	0	1	2	3	2	3	5	1	1	0	5	1	2	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:48374806T>G	ENST00000222002.3	-	6	903	c.764A>C	c.(763-765)aAa>aCa	p.K255T		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	255					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GAAGTGATTTTTCCAGTCCCC	0.478													3	58					0	0	0	0	G	48374806	T	G	48374806	3	3	147	1	0	0	0	0	1	0	0	0	15471	1841	64	5	97	5	SULT2A1	19	48374806	Missense_Mutation	SNP	T	TCGA-CQ-6223-01A-11D-1912-08	6149958	48374806	10754177	92	27420											
MYBPC2	4606	broad.mit.edu	37	chr19	50958379	50958379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccagggtacctcgtagagCggaagaagaagggctctcag	11	6	14	10	2	1	3	1	0	1	3	4	4	2	4	2	3	2	3	2	3	5	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:50958379C>T	ENST00000357701.5	+	19	2080	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	677	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCTCGTAGAGCGGAAGAAGAA	0.572													11	27					0	0	0	0	T	50958379	C	T	50958379	3	4	147	1	0	0	0	0	1	0	0	0	10082	759	27	1	2103	1	MYBPC2	19	50958379	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	2583573	50958379	8170604	93	27421											
TMEM150B	284417	broad.mit.edu	37	chr19	55824407	55824407	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacgctacgcagcgagcaGgcgtggaggacgatcactgc	10	4	16	11	5	1	1	1	0	0	1	1	6	1	3	0	3	4	3	0	3	1	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:55824407G>T	ENST00000326652.4	-	8	704	c.522C>A	c.(520-522)gcC>gcA	p.A174A	TMEM150B_ENST00000438693.1_Silent_p.A174A			A6NC51	T150B_HUMAN	transmembrane protein 150B	174						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GCAGCGAGCAGGCGTGGAGGA	0.677													8	9					5.18039e-06	2.64062e-05	1	0	T	55824407	G	T	55824407	2	4	147	1	0	0	0	0	0	0	0	1	16162	987	35	4		4	TMEM150B	19	55824407	Silent	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	4866028	55824407	3304576	94	27422			1	38		2	2	13	G		3.953829e-05
TMEM150B	284417	broad.mit.edu	37	chr19	55824419	55824419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgagcaggcgtggaggacGatcactgccccagggtcaag	10	4	16	11	3	2	0	2	0	0	0	2	4	2	2	2	4	3	1	2	4	1	0			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:55824419G>A	ENST00000326652.4	-	8	692	c.510C>T	c.(508-510)atC>atT	p.I170I	TMEM150B_ENST00000438693.1_Silent_p.I170I			A6NC51	T150B_HUMAN	transmembrane protein 150B	170						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						CGTGGAGGACGATCACTGCCC	0.677													6	7					0	0	0	0	A	55824419	G	A	55824419	2	1	147	1	0	0	0	0	0	0	0	1	16162	1048	37	1		1	TMEM150B	19	55824419	Silent	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	12	55824419	3304564	95	27423			1	38		2	2	13	G		3.953829e-05
ZNF835	90485	broad.mit.edu	37	chr19	57175695	57175695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggtgctgggtcaggtgcGcgatctgcgcgaaggccttg	4	8	18	11	5	2	0	1	0	1	0	2	2	2	0	2	4	3	1	2	4	1	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:57175695G>A	ENST00000537055.2	-	2	1103	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTCAGGTGCGCGATCTGCGC	0.697													6	9					0	0	0	0	A	57175695	G	A	57175695	3	1	147	1	0	0	0	0	1	0	0	0	18279	1087	38	1	743	1	ZNF835	19	57175695	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	1351276	57175695	1953288	96	27424											
USP29	57663	broad.mit.edu	37	chr19	57640091	57640091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaaatttggagccagaaGactgggatgactaagctgaa	15	8	11	7	0	0	4	0	2	0	2	1	6	1	6	2	2	2	1	2	2	4	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:57640091G>T	ENST00000254181.4	+	4	502	c.48G>T	c.(46-48)aaG>aaT	p.K16N	USP29_ENST00000598197.1_Missense_Mutation_p.K16N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	16					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGCCAGAAGACTGGGATGA	0.348													9	21					7.48243e-07	3.84811e-06	1	0	T	57640091	G	T	57640091	3	4	147	1	0	0	0	0	1	0	0	0	17155	933	33	2	50	2	USP29	19	57640091	Missense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	464396	57640091	1488892	97	27425											
SPATA2	9825	broad.mit.edu	37	chr20	48523004	48523004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcttgtagtagtccttggCcgcccgctcgctggccgact	3	10	14	14	4	0	0	0	0	0	0	2	1	1	0	4	3	0	5	4	3	2	4			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr20:48523004C>T	ENST00000422556.1	-	3	1064	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	SPATA2_ENST00000289431.5_Missense_Mutation_p.A239T|SPATA2_ENST00000543716.1_Missense_Mutation_p.A102T	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	239					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TAGTCCTTGGCCGCCCGCTCG	0.677													17	35					0	0	0	0	T	48523004	C	T	48523004	3	4	147	1	0	0	0	0	1	0	0	0	15095	739	26	4	851	4	SPATA2	20	48523004	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08		48523004	14502516	98	27426											
MXRA5	25878	broad.mit.edu	37	chrX	3228388	3228388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgtggccagcggcattgCgggccacgcagcggtaggcc	5	5	17	14	5	0	0	0	0	0	0	0	0	0	0	4	5	3	3	4	5	1	2			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:3228388C>A	ENST00000217939.6	-	7	8010	c.7856G>T	c.(7855-7857)cGc>cTc	p.R2619L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2619	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGCGGCATTGCGGGCCACGCA	0.597													22	6					2.98393e-07	1.5625e-06	1	0	A	3228388	C	A	3228388	3	1	147	1	0	0	0	0	1	0	0	0	10073	768	27	3	634	3	MXRA5	23	3228388	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08		3228388	152042172	99	27427											
GRPR	2925	broad.mit.edu	37	chrX	16168686	16168686	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctacgtcattccactgtcGatcatctctgtttactacta	8	17	4	12	2	4	0	2	0	2	0	7	1	5	0	1	0	3	1	1	0	4	7			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:16168686G>A	ENST00000380289.2	+	2	1070	c.672G>A	c.(670-672)tcG>tcA	p.S224S		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	224					cell proliferation	integral to plasma membrane	bombesin receptor activity	p.S224S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TTCCACTGTCGATCATCTCTG	0.438													5	48					0	0	0	0	A	16168686	G	A	16168686	2	1	147	1	0	0	0	0	0	0	0	1	6858	1045	37	1		1	GRPR	23	16168686	Silent	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	12940298	16168686	139101874	100	27428											
SLC25A14	9016	broad.mit.edu	37	chrX	129479183	129479183	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaccactgtaagtcatGagatgtctggtctgaattgg	12	12	11	6	0	3	2	1	2	2	1	3	3	3	2	1	2	1	2	1	2	4	3			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:129479183G>T	ENST00000218197.5	+	2	330	c.103G>T	c.(103-105)Gag>Tag	p.E35*	SLC25A14_ENST00000545805.1_Nonsense_Mutation_p.E35*|SLC25A14_ENST00000361980.5_Nonsense_Mutation_p.E32*|SLC25A14_ENST00000543953.1_5'UTR|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000339231.3_Nonsense_Mutation_p.E32*	NM_003951.2|NM_022810.1	NP_003942.1|NP_073721.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	35					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGTAAGTCATGAGATGTCTGG	0.388													35	19					1.26612e-14	7.22063e-14	1	0	T	129479183	G	T	129479183	4	4	147	1	0	0	0	0	0	1	0	0	14564	1291	45	2	109	2	SLC25A14	23	129479183	Nonsense_Mutation	SNP	G	TCGA-CQ-6223-01A-11D-1912-08	113310497	129479183	25791377	101	27429											
FGF13	2258	broad.mit.edu	37	chrX	137715118	137715118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgggagaactccgtgagatCgtgcagtgatggctccttgt	7	11	14	9	3	0	3	0	2	0	2	4	5	2	3	2	2	2	2	2	2	1	1			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:137715118C>T	ENST00000315930.6	-	5	1292	c.631G>A	c.(631-633)Gat>Aat	p.D211N	FGF13_ENST00000305414.4_Missense_Mutation_p.D158N|FGF13_ENST00000541469.1_Missense_Mutation_p.D165N|FGF13_ENST00000441825.2_Missense_Mutation_p.D192N|FGF13_ENST00000370603.3_Missense_Mutation_p.D221N	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	211					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCGTGAGATCGTGCAGTGAT	0.483													40	14					0	0	0	0	T	137715118	C	T	137715118	3	4	147	1	0	0	0	0	1	0	0	0	5887	884	31	1	110	1	FGF13	23	137715118	Missense_Mutation	SNP	C	TCGA-CQ-6223-01A-11D-1912-08	8235935	137715118	17555442	102	27430											
GRIK3	2899	broad.mit.edu	37	chr1	37346378	37346378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgggtggtgcttccaaCgcagctggatgtggggcacc	6	7	16	12	2	0	0	0	0	0	0	1	1	1	1	3	5	4	4	3	5	1	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:37346378C>T	ENST00000373091.3	-	3	423	c.407G>A	c.(406-408)cGt>cAt	p.R136H	GRIK3_ENST00000373093.4_Missense_Mutation_p.R136H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	136					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTGCTTCCAACGCAGCTGGAT	0.622													4	84					0	0	0	0	T	37346378	C	T	37346378	3	4	148	1	0	0	0	0	1	0	0	0	6825	536	19	1	2408	1	GRIK3	1	37346378	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08		37346378	211904243	1	27431											
TCTEX1D4	343521	broad.mit.edu	37	chr1	45271807	45271807	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgccctggcccgcgcgCggccccagcaccacactgca	7	3	11	20	5	0	1	0	1	0	0	0	1	0	1	5	2	3	2	5	2	1	0			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:45271807C>T	ENST00000372200.1	-	2	1042	c.534G>A	c.(532-534)ccG>ccA	p.P178P	TCTEX1D4_ENST00000339355.2_Silent_p.P178P	NM_001013632.2	NP_001013654.1	Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	178										pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					GGCCCGCGCGCGGCCCCAGCA	0.716													6	6					0	0	0	0	T	45271807	C	T	45271807	2	4	148	1	0	0	0	0	0	0	0	1	15815	755	27	1		1	TCTEX1D4	1	45271807	Silent	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	7925429	45271807	203978814	2	27432											
AKNAD1	254268	broad.mit.edu	37	chr1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttgatccttccgtggcccTttttctccacgttttgcttc	3	18	7	13	2	1	1	0	1	1	0	5	1	3	1	4	1	1	3	4	1	0	7			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:109369904T>C	ENST00000370001.3	-	11	2127	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	620										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413													3	185					0	0	0	0	C	109369904	T	C	109369904	3	2	148	1	0	0	0	0	1	0	0	0	464	1609	56	5	675	5	AKNAD1	1	109369904	Missense_Mutation	SNP	T	TCGA-CQ-6224-01A-11D-1912-08	64098097	109369904	139880717	3	27433											
FCRL4	83417	broad.mit.edu	37	chr1	157551405	157551405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagtggctcccgcggCgacaaggccatctctgttgc	5	8	11	17	3	1	0	0	0	1	0	4	1	3	0	4	3	1	2	4	3	1	1	rs143188744	byFrequency	TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:157551405C>T	ENST00000271532.1	-	7	1300	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	389						integral to membrane|plasma membrane	receptor activity	p.A389T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCTCCCGCGGCGACAAGGCCA	0.572													5	21					0	0	0	0	T	157551405	C	T	157551405	3	4	148	1	0	0	0	0	1	0	0	0	5842	768	27	1	406	1	FCRL4	1	157551405	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	48181501	157551405	91699216	4	27434											
HMCN1	83872	broad.mit.edu	37	chr1	186106021	186106021	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaatttgaatgtgttgctCgaaacttaatgggttctgtc	9	16	10	6	1	1	2	0	2	1	0	3	3	1	2	0	1	2	3	0	1	4	4			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:186106021C>T	ENST00000271588.4	+	87	13763	c.13534C>T	c.(13534-13536)Cga>Tga	p.R4512*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R4512*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4512	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R4512R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGTGTTGCTCGAAACTTAAT	0.428													29	71					0	0	0	0	T	186106021	C	T	186106021	4	4	148	1	0	0	0	0	0	1	0	0	7270	876	31	1	13880	1	HMCN1	1	186106021	Nonsense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	28554616	186106021	63144600	5	27435											
DEGS1	8560	broad.mit.edu	37	chr1	224377307	224377307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagagataaagtccttgatGaaacctgatcccaatttgat	14	11	7	9	0	0	5	0	4	0	1	2	6	2	5	4	0	1	0	4	0	4	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:224377307G>A	ENST00000323699.4	+	2	277	c.111G>A	c.(109-111)atG>atA	p.M37I	DEGS1_ENST00000391877.3_Missense_Mutation_p.M37I|DEGS1_ENST00000465848.1_3'UTR	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	37					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		AGTCCTTGATGAAACCTGATC	0.313													12	63					0	0	0	0	A	224377307	G	A	224377307	3	1	148	1	0	0	0	0	1	0	0	0	4459	1290	45	2	117	2	DEGS1	1	224377307	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	38271286	224377307	24873314	6	27436											
OBSCN	84033	broad.mit.edu	37	chr1	228468013	228468013	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgggatgcccctgtacaaCgacagcttccatgagatctc	11	8	9	13	2	1	1	0	1	1	1	3	4	2	2	3	1	5	2	3	1	3	2			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:228468013C>T	ENST00000570156.2	+	34	9158	c.9084C>T	c.(9082-9084)aaC>aaT	p.N3028N	OBSCN_ENST00000422127.1_Silent_p.N2599N|OBSCN_ENST00000359599.6_Silent_p.N1446N|OBSCN_ENST00000284548.11_Silent_p.N2599N|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2029	Ig-like 30.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTGTACAACGACAGCTTCC	0.627													3	16					0	0	0	0	T	228468013	C	T	228468013	2	4	148	1	0	0	0	0	0	0	0	1	10883	535	19	1		1	OBSCN	1	228468013	Silent	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	4090706	228468013	20782608	7	27437											
VIT	5212	broad.mit.edu	37	chr2	36986255	36986255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacgcgacgtgttttgggaGatagcggagaaattaacatc	13	9	12	7	4	0	2	0	0	0	2	1	5	0	2	0	2	2	1	0	2	3	4			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:36986255G>A	ENST00000457137.2	+	6	781	c.553G>A	c.(553-555)Gat>Aat	p.D185N	VIT_ENST00000379242.3_Intron|VIT_ENST00000404084.1_Intron|VIT_ENST00000389975.3_Intron|VIT_ENST00000497382.1_Intron|VIT_ENST00000379241.3_Intron|VIT_ENST00000401530.1_Intron	NM_001177972.1	NP_001171443.1	Q6UXI7	VITRN_HUMAN	vitrin	0						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGTTTTGGGAGATAGCGGAGA	0.458													3	45					0	0	0	0	A	36986255	G	A	36986255	3	1	148	1	0	0	0	0	1	0	0	0	17267	942	33	2	571	2	VIT	2	36986255	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08		36986255	206213118	8	27438											
CCDC85A	114800	broad.mit.edu	37	chr2	56420192	56420192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaccacaaacccttgtGcaagggcagccccgaacagc	12	3	11	15	1	0	0	0	0	0	0	0	2	0	1	4	2	6	3	4	2	3	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:56420192G>T	ENST00000407595.2	+	2	1359	c.857G>T	c.(856-858)tGc>tTc	p.C286F	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	286	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAACCCTTGTGCAAGGGCAGC	0.632													16	84					4.14922e-12	4.5839e-12	1	0	T	56420192	G	T	56420192	3	4	148	1	0	0	0	0	1	0	0	0	2886	1319	46	4	863	4	CCDC85A	2	56420192	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	19433937	56420192	186779181	9	27439											
TTN	7273	broad.mit.edu	37	chr2	179433038	179433038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctagcaacagtagcagaaaCaacatcccatactgtggtgg	14	8	9	10	0	1	1	0	0	1	1	2	1	2	1	1	2	6	3	1	2	6	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:179433038C>T	ENST00000589042.1	-	326	78045	c.77821G>A	c.(77821-77823)Gtt>Att	p.V25941I	TTN_ENST00000342175.6_Missense_Mutation_p.V17068I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23373I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17001I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V24300I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16876I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24300	Fibronectin type-III 89.						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)			GTAGCAGAAACAACATCCCAT	0.383													18	58					0	0	0	0	T	179433038	C	T	179433038	3	4	148	1	0	0	0	0	1	0	0	0	16831	478	17	4	30306	4	TTN	2	179433038	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	123012846	179433038	63766335	10	27440											
TTN	7273	broad.mit.edu	37	chr2	179587178	179587178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcacacttggatgggtgCagagccatttaatcgacaag	12	8	11	10	1	0	1	0	0	0	1	1	3	0	2	2	2	3	2	2	2	2	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:179587178C>A	ENST00000589042.1	-	77	22560	c.22336G>T	c.(22336-22338)Gca>Tca	p.A7446S	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A6202S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7129S|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7129	Ig-like 56.						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)			TGGATGGGTGCAGAGCCATTT	0.393													14	69					1.5842e-08	1.71745e-08	1	0	A	179587178	C	A	179587178	3	1	148	1	0	0	0	0	1	0	0	0	16831	710	25	4	82337	4	TTN	2	179587178	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	154140	179587178	63612195	11	27441											
NEUROD1	4760	broad.mit.edu	37	chr2	182542610	182542610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattgtctatggggatctcGcagcgaggggcagcggtgcc	7	9	16	9	3	2	0	0	0	2	0	3	2	2	1	1	5	3	2	1	5	2	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:182542610G>A	ENST00000295108.3	-	2	1435	c.978C>T	c.(976-978)tgC>tgT	p.C326C	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	326					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGGGGATCTCGCAGCGAGGGG	0.502													10	102					0	0	0	0	A	182542610	G	A	182542610	2	1	148	1	0	0	0	0	0	0	0	1	10418	1079	38	1		1	NEUROD1	2	182542610	Silent	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	2955432	182542610	60656763	12	27442											
SPAG16	79582	broad.mit.edu	37	chr2	214878680	214878680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctctctttatagtgaaaGatgcagatgtactttgtatg	10	18	8	5	0	2	3	0	1	2	2	3	3	2	3	0	0	2	3	0	0	5	7			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:214878680G>A	ENST00000331683.5	+	13	1501	c.1406G>A	c.(1405-1407)aGa>aAa	p.R469K	SPAG16_ENST00000374309.3_Missense_Mutation_p.R375K	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	469					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TATAGTGAAAGATGCAGATGT	0.338													10	73					0	0	0	0	A	214878680	G	A	214878680	3	1	148	1	0	0	0	0	1	0	0	0	15068	942	33	2	1472	2	SPAG16	2	214878680	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	32336070	214878680	28320693	13	27443											
UGT1A1	54658	broad.mit.edu	37	chr2	234669125	234669125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcctagcacctgacgcCtcgttgtacatcagagacgg	8	10	11	12	3	1	2	1	1	0	1	3	3	2	2	3	1	2	4	3	1	2	4			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:234669125C>T	ENST00000360418.3	+	1	192	c.192C>T	c.(190-192)gcC>gcT	p.A64A	UGT1A6_ENST00000373424.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A1_ENST00000305208.5_Silent_p.A64A|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000305139.6_Intron			P22309	UD11_HUMAN		64					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CACCTGACGCCTCGTTGTACA	0.522													11	88					0	0	0	0	T	234669125	C	T	234669125	2	4	148	1	0	0	0	0	0	0	0	1	17040	668	24	4		4	UGT1A1	2	234669125	Silent	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	19790445	234669125	8530248	14	27444											
TOP2B	7155	broad.mit.edu	37	chr3	25639860	25639860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactctgcaaaatattttaCttctttcctagcccgaccgg	10	13	6	12	2	2	1	0	0	2	1	3	2	3	1	3	1	3	1	3	1	5	6			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr3:25639860C>T	ENST00000435706.2	-	36	5005	c.4804G>A	c.(4804-4806)Gta>Ata	p.V1602I	TOP2B_ENST00000540199.1_Missense_Mutation_p.V459I|TOP2B_ENST00000542520.1_Missense_Mutation_p.V459I|TOP2B_ENST00000264331.4_Missense_Mutation_p.V1607I			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1607					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AAATATTTTACTTCTTTCCTA	0.403													11	43					0	0	0	0	T	25639860	C	T	25639860	3	4	148	1	0	0	0	0	1	0	0	0	16461	565	20	4	65	4	TOP2B	3	25639860	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08		25639860	172382570	15	27445											
SLC7A14	57709	broad.mit.edu	37	chr3	170198808	170198808	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagacacagacagagacCaaggtgtaggccaggagcgt	15	3	14	9	1	0	3	0	0	0	3	0	5	0	4	2	3	2	2	2	3	3	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr3:170198808C>T	ENST00000231706.4	-	7	1578	c.1263G>A	c.(1261-1263)ttG>ttA	p.L421L	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	421						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGACAGAGACCAAGGTGTAGG	0.532													14	91					0	0	0	0	T	170198808	C	T	170198808	2	4	148	1	0	0	0	0	0	0	0	1	14784	593	21	4		4	SLC7A14	3	170198808	Silent	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	144558948	170198808	27823622	16	27446											
INTS12	57117	broad.mit.edu	37	chr4	106621141	106621141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaaaaaatgggatcaagttCcaagttcacagtagcagcca	17	7	8	9	0	2	0	2	0	0	0	3	1	3	1	2	1	2	4	2	1	6	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr4:106621141C>T	ENST00000451321.2	-	2	501	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	INTS12_ENST00000340139.5_Missense_Mutation_p.E8K|INTS12_ENST00000394735.1_Missense_Mutation_p.E8K	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	8					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GGATCAAGTTCCAAGTTCACA	0.358													37	85					0	0	0	0	T	106621141	C	T	106621141	3	4	148	1	0	0	0	0	1	0	0	0	7830	864	30	2	1390	2	INTS12	4	106621141	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08		106621141	84533135	17	27447											
ENPP6	133121	broad.mit.edu	37	chr4	185012424	185012424	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccttcagcatgcacatcAccctggaccaggatccgttg	8	8	10	15	1	2	0	2	0	0	0	3	2	3	2	4	3	2	3	4	3	0	2			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr4:185012424A>C	ENST00000296741.2	-	8	1370	c.1229T>G	c.(1228-1230)gTg>gGg	p.V410G		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	410					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CATGCACATCACCCTGGACCA	0.587													6	76					0	0	0	0	C	185012424	A	C	185012424	3	2	148	1	0	0	0	0	1	0	0	0	5172	159	6	5	97	5	ENPP6	4	185012424	Missense_Mutation	SNP	A	TCGA-CQ-6224-01A-11D-1912-08	78391283	185012424	6141852	18	27448											
KLKB1	3818	broad.mit.edu	37	chr4	187172684	187172684	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagttgactttggaggAgaagaattgaatgtgacttt	11	12	14	4	1	0	5	0	3	0	2	0	8	0	7	1	3	0	1	1	3	3	4			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr4:187172684A>G	ENST00000264690.6	+	9	1099	c.912A>G	c.(910-912)ggA>ggG	p.G304G	KLKB1_ENST00000513864.1_Silent_p.G304G	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	304	Apple 4.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACTTTGGAGGAGAAGAATTGA	0.373													3	73					0	0	0	0	G	187172684	A	G	187172684	2	3	148	1	0	0	0	0	0	0	0	1	8464	291	11	5		5	KLKB1	4	187172684	Silent	SNP	A	TCGA-CQ-6224-01A-11D-1912-08	2160260	187172684	3981592	19	27449											
RASA1	5921	broad.mit.edu	37	chr5	86674234	86674234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagccactaccctatttcGagccacaacacttgcaagca	13	8	6	14	1	0	1	0	1	0	0	1	2	0	1	3	0	6	2	3	0	5	4			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr5:86674234G>A	ENST00000456692.2	+	18	1950	c.1835G>A	c.(1834-1836)cGa>cAa	p.R612Q	RASA1_ENST00000512763.1_Missense_Mutation_p.R622Q|RASA1_ENST00000506290.1_Missense_Mutation_p.R623Q|RASA1_ENST00000274376.6_Missense_Mutation_p.R789Q	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	789	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	p.R789Q(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACCCTATTTCGAGCCACAACA	0.353													13	32					0	0	0	0	A	86674234	G	A	86674234	3	1	148	1	0	0	0	0	1	0	0	0	13142	1058	37	1	2448	1	RASA1	5	86674234	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08		86674234	94241026	20	27450											
GPR98	84059	broad.mit.edu	37	chr5	90079036	90079036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctctcagagctcctctGccagtcccggaggtgttgat	6	12	10	13	1	4	2	2	1	2	1	7	3	6	3	3	2	2	2	3	2	0	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr5:90079036G>A	ENST00000405460.2	+	66	13423	c.13327G>A	c.(13327-13329)Gcc>Acc	p.A4443T	GPR98_ENST00000425867.2_Missense_Mutation_p.A104T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4443					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGCTCCTCTGCCAGTCCCGG	0.443													27	113					0	0	0	0	A	90079036	G	A	90079036	3	1	148	1	0	0	0	0	1	0	0	0	6771	1319	46	4	13589	4	GPR98	5	90079036	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	3404802	90079036	90836224	21	27451											
PSD2	84249	broad.mit.edu	37	chr5	139201499	139201499	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattcttgaaggccttcccGctgatgggggagacacaaga	11	8	12	10	1	1	4	0	2	1	2	2	5	2	4	2	3	0	1	2	3	2	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr5:139201499G>A	ENST00000274710.3	+	6	1324	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	373	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCTTCCCGCTGATGGGGG	0.587													7	64					0	0	0	0	A	139201499	G	A	139201499	2	1	148	1	0	0	0	0	0	0	0	1	12726	1074	38	1		1	PSD2	5	139201499	Silent	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	49122463	139201499	41713761	22	27452											
ABLIM3	22885	broad.mit.edu	37	chr5	148590346	148590346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtttggcattaaatgtgaGacttgtgaccgatacatcag	12	12	10	7	1	1	2	1	2	0	1	1	4	1	2	1	1	1	2	1	1	3	4			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr5:148590346G>A	ENST00000506113.1	+	6	1115	c.633G>A	c.(631-633)gaG>gaA	p.E211E	ABLIM3_ENST00000356541.3_Silent_p.E211E|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Silent_p.E211E|ABLIM3_ENST00000504238.1_Silent_p.E211E|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Silent_p.E211E|ABLIM3_ENST00000508983.1_Silent_p.E211E			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	211	LIM zinc-binding 4.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAATGTGAGACTTGTGACC	0.478													41	115					0	0	0	0	A	148590346	G	A	148590346	2	1	148	1	0	0	0	0	0	0	0	1	96	933	33	2		2	ABLIM3	5	148590346	Silent	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	9388847	148590346	32324914	23	27453											
ATXN1	6310	broad.mit.edu	37	chr6	16328463	16328463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggtaggggccttctcctCggaggaccggctggtggcgg	4	7	19	11	3	1	0	0	0	1	0	3	2	1	2	3	9	0	2	3	9	1	2			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:16328463C>T	ENST00000244769.4	-	8	1015	c.79G>A	c.(79-81)Gag>Aag	p.E27K	ATXN1_ENST00000436367.1_Missense_Mutation_p.E27K	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	27					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCCTTCTCCTCGGAGGACCGG	0.687													6	70					0	0	0	0	T	16328463	C	T	16328463	3	4	148	1	0	0	0	0	1	0	0	0	1213	893	31	1	2376	1	ATXN1	6	16328463	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08		16328463	154786604	24	27454											
PRL	5617	broad.mit.edu	37	chr6	22294767	22294767	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatgggcaagggggccacGctctggcacaggagcaggtt	9	5	17	10	1	1	1	0	0	1	1	1	2	1	2	1	6	1	5	1	6	1	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:22294767G>A	ENST00000306482.1	-	2	593	c.75C>T	c.(73-75)agC>agT	p.S25S	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	25					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					AGGGGGCCACGCTCTGGCACA	0.592													4	26					0	0	0	0	A	22294767	G	A	22294767	2	1	148	1	0	0	0	0	0	0	0	1	12608	1078	38	1		1	PRL	6	22294767	Silent	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	5966304	22294767	148820300	25	27455											
KAAG1	353219	broad.mit.edu	37	chr6	24357907	24357907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgcgtagaaggggtccccGttgcggtacacaagcacgct	8	6	13	14	5	0	1	0	0	0	1	1	1	1	1	3	3	3	5	3	3	4	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:24357907G>A	ENST00000274766.1	+	1	777	c.40G>A	c.(40-42)Gtt>Att	p.V14I	DCDC2_ENST00000378454.3_Silent_p.N24N	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	14					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						AGGGGTCCCCGTTGCGGTACA	0.662													9	59					0	0	0	0	A	24357907	G	A	24357907	3	1	148	1	0	0	0	0	1	0	0	0	8026	1145	40	1	42	1	KAAG1	6	24357907	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	2063140	24357907	146757160	26	27456											
PKHD1	5314	broad.mit.edu	37	chr6	51875151	51875151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtatctcagtaatcttgaCggtaattggctgattgggcg	8	13	12	8	3	2	2	1	2	2	0	3	2	2	2	1	3	0	4	1	3	3	6			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:51875151C>T	ENST00000371117.3	-	35	5982	c.5707G>A	c.(5707-5709)Gtc>Atc	p.V1903I	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1903I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1903					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.V1903I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTAATCTTGACGGTAATTGGC	0.393													6	37					0	0	0	0	T	51875151	C	T	51875151	3	4	148	1	0	0	0	0	1	0	0	0	12043	536	19	1	6688	1	PKHD1	6	51875151	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	27517244	51875151	119239916	27	27457											
KIAA1919	91749	broad.mit.edu	37	chr6	111588141	111588141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggattttgaaatgattgaaaCgaatgatacaatgaggcatt	16	12	10	3	1	0	5	0	5	0	0	0	7	0	6	0	2	2	1	0	2	5	5			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:111588141C>T	ENST00000368847.4	+	4	1729	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	459					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		ATGATTGAAACGAATGATACA	0.398													5	50					0	0	0	0	T	111588141	C	T	111588141	3	4	148	1	0	0	0	0	1	0	0	0	8313	536	19	1	1390	1	KIAA1919	6	111588141	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	59712990	111588141	59526926	28	27458											
EPDR1	54749	broad.mit.edu	37	chr7	37988474	37988474	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tattttgctgtataaggatgGagtgatgtttcagattgacc	10	16	11	4	0	1	3	1	2	0	1	1	5	1	5	1	2	1	3	1	2	3	7			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:37988474G>C	ENST00000199448.4	+	2	681	c.302G>C	c.(301-303)gGa>gCa	p.G101A	EPDR1_ENST00000425345.1_Missense_Mutation_p.G40A|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_5'UTR|EPDR1_ENST00000559325.1_Missense_Mutation_p.G221A	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	101					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						TATAAGGATGGAGTGATGTTT	0.423													4	51					0	0	0	0	C	37988474	G	C	37988474	3	2	148	1	0	0	0	0	1	0	0	0	5201	1174	41	2	668	2	EPDR1	7	37988474	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08		37988474	121150189	29	27459											
ZNF716	441234	broad.mit.edu	37	chr7	57522286	57522286	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactacagaaacctggtcTccctgggtgaggaaaacttc	13	8	10	10	0	1	3	0	1	1	2	3	4	1	4	2	3	4	0	2	3	5	2			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:57522286T>C	ENST00000420713.1	+	2	272	c.160T>C	c.(160-162)Tcc>Ccc	p.S54P		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAACCTGGTCTCCCTGGGTGA	0.368													4	64					0	0	0	0	C	57522286	T	C	57522286	3	2	148	1	0	0	0	0	1	0	0	0	18214	1551	54	5	166	5	ZNF716	7	57522286	Missense_Mutation	SNP	T	TCGA-CQ-6224-01A-11D-1912-08	19533812	57522286	101616377	30	27460											
LHFPL3	375612	broad.mit.edu	37	chr7	104377219	104377219	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacagacaagtacactctTggggcttgctcagtccgctg	10	9	11	11	1	2	2	1	0	1	2	3	2	3	2	1	2	2	4	1	2	3	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:104377219T>C	ENST00000535008.1	+	4	667	c.543T>C	c.(541-543)ctT>ctC	p.L181L	LHFPL3_ENST00000424859.1_Silent_p.L167L|LHFPL3_ENST00000401970.2_Silent_p.L167L|LHFPL3_ENST00000543266.1_Silent_p.L181L			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	167						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						AGTACACTCTTGGGGCTTGCT	0.473													7	25					0	0	0	0	C	104377219	T	C	104377219	2	2	148	1	0	0	0	0	0	0	0	1	8820	1799	63	5		5	LHFPL3	7	104377219	Silent	SNP	T	TCGA-CQ-6224-01A-11D-1912-08	46854933	104377219	54761444	31	27461											
LRRN3	54674	broad.mit.edu	37	chr7	110764283	110764283	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacactagatataaatggCgtaactcccaaagaaggggg	16	6	12	7	1	0	2	0	0	0	2	1	3	1	3	1	4	2	1	1	4	8	4			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:110764283C>T	ENST00000451085.1	+	4	2501	c.1455C>T	c.(1453-1455)ggC>ggT	p.G485G	LRRN3_ENST00000308478.5_Silent_p.G485G|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000422987.3_Silent_p.G485G|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	485	Ig-like C2-type.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATATAAATGGCGTAACTCCCA	0.408													8	71					0	0	0	0	T	110764283	C	T	110764283	2	4	148	1	0	0	0	0	0	0	0	1	9100	755	27	1		1	LRRN3	7	110764283	Silent	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	6387064	110764283	48374380	32	27462											
TAS2R60	338398	broad.mit.edu	37	chr7	143141158	143141158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatgattacttggacaatgCccactgctgtctttttcatt	10	16	6	9	0	2	1	1	1	1	0	2	2	2	2	1	1	3	1	1	1	3	5			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:143141158C>T	ENST00000332690.1	+	1	613	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	205					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TTGGACAATGCCCACTGCTGT	0.448													4	152					0	0	0	0	T	143141158	C	T	143141158	3	4	148	1	0	0	0	0	1	0	0	0	15676	739	26	4	615	4	TAS2R60	7	143141158	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	32376875	143141158	15997505	33	27463											
TMEM176A	55365	broad.mit.edu	37	chr7	150500820	150500820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattacaacagtgcctgccGcatctccagctcgagtgact	9	11	8	13	2	1	1	0	1	1	0	3	2	1	1	3	0	5	2	3	0	3	2			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:150500820G>A	ENST00000484928.1	+	5	1036	c.455G>A	c.(454-456)cGc>cAc	p.R152H	TMEM176A_ENST00000004103.3_Missense_Mutation_p.R152H|TMEM176A_ENST00000461345.1_Missense_Mutation_p.R93H			Q96HP8	T176A_HUMAN	transmembrane protein 176A	152						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGCCTGCCGCATCTCCAGC	0.512													29	74					0	0	0	0	A	150500820	G	A	150500820	3	1	148	1	0	0	0	0	1	0	0	0	16186	1087	38	1	469	1	TMEM176A	7	150500820	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	7359662	150500820	8637843	34	27464											
EXTL3	2137	broad.mit.edu	37	chr8	28573798	28573798	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggtggggaacgagctgtgCgaggtgaagcacgtgctgga	8	6	20	7	4	0	1	0	1	0	0	0	5	0	3	0	5	5	3	0	5	2	0			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:28573798C>T	ENST00000220562.4	+	3	1124	c.222C>T	c.(220-222)tgC>tgT	p.C74C	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	74						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ACGAGCTGTGCGAGGTGAAGC	0.602													12	55					0	0	0	0	T	28573798	C	T	28573798	2	4	148	1	0	0	0	0	0	0	0	1	5365	776	27	1		1	EXTL3	8	28573798	Silent	SNP	C	TCGA-CQ-6224-01A-11D-1912-08		28573798	117790224	35	27465											
UNC5D	137970	broad.mit.edu	37	chr8	35606140	35606140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctttgcattgaccatccCgcactgtgcagatgtcagtt	7	13	8	13	1	1	2	1	1	0	1	3	2	3	2	3	0	2	4	3	0	0	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:35606140C>T	ENST00000287272.2	+	11	1675	c.1655C>T	c.(1654-1656)cCg>cTg	p.P552L	UNC5D_ENST00000449677.1_Missense_Mutation_p.P197L|UNC5D_ENST00000420357.1_Missense_Mutation_p.P554L|UNC5D_ENST00000453357.2_Missense_Mutation_p.P616L|UNC5D_ENST00000416672.1_Missense_Mutation_p.P626L|UNC5D_ENST00000404895.2_Missense_Mutation_p.P621L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	621	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGACCATCCCGCACTGTGCA	0.493													5	116					0	0	0	0	T	35606140	C	T	35606140	3	4	148	1	0	0	0	0	1	0	0	0	17091	652	23	1	1908	1	UNC5D	8	35606140	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	7032342	35606140	110757882	36	27466											
OPRK1	4986	broad.mit.edu	37	chr8	54141973	54141973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcagtggaaagcagaagtCccggaaacaccgcttgaagt	13	7	11	10	2	1	2	1	1	0	1	2	4	2	4	2	2	2	2	2	2	4	2			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:54141973C>T	ENST00000265572.3	-	4	1324	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.D254N|OPRK1_ENST00000520287.1_Missense_Mutation_p.D343N	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	343					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.D343N(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AAGCAGAAGTCCCGGAAACAC	0.493													6	59					0	0	0	0	T	54141973	C	T	54141973	3	4	148	1	0	0	0	0	1	0	0	0	10956	855	30	2	119	2	OPRK1	8	54141973	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	18535833	54141973	92222049	37	27467											
TOP1MT	116447	broad.mit.edu	37	chr8	144392336	144392336	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcctgcacactcagctgCgccagctgctcctgcagctt	5	9	11	16	1	1	0	1	0	0	0	2	0	2	0	3	1	7	6	3	1	0	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:144392336C>T	ENST00000523676.1	-	14	1716	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A	TOP1MT_ENST00000521193.1_Silent_p.A437A|TOP1MT_ENST00000519148.1_Silent_p.A437A|TOP1MT_ENST00000329245.4_Silent_p.A535A			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	535					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CACTCAGCTGCGCCAGCTGCT	0.642													4	23					0	0	0	0	T	144392336	C	T	144392336	2	4	148	1	0	0	0	0	0	0	0	1	16459	755	27	1		1	TOP1MT	8	144392336	Silent	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	90250363	144392336	1971686	38	27468											
SHARPIN	81858	broad.mit.edu	37	chr8	145154029	145154029	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagctggctgggggcctggGggtagccccaatgatggggg	5	6	21	9	0	0	1	0	1	0	0	0	1	0	1	3	7	2	4	3	7	2	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:145154029G>A	ENST00000398712.2	-	7	1438	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P		NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	334					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGGGCCTGGGGGTAGCCCCA	0.662													3	41					0	0	0	0	A	145154029	G	A	145154029	2	1	148	1	0	0	0	0	0	0	0	1	14355	1219	43	4		4	SHARPIN	8	145154029	Silent	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	761693	145154029	1209993	39	27469											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	8	6	10	17	3	2	1	2	1	0	0	4	1	3	1	3	1	4	4	3	1	0	0	rs121913387		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	14					0	0	0	0	A	21971186	G	A	21971186	4	1	148	1	0	0	0	0	0	1	0	0	3190	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08		21971186	119242245	40	27470											
KLF9	687	broad.mit.edu	37	chr9	73002724	73002724	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcgcctttttcgatcGcttgatcatgctggggtgga	5	12	14	10	3	1	1	1	1	0	0	3	3	1	2	2	4	2	2	2	4	0	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr9:73002724G>A	ENST00000377126.2	-	2	1963	c.703C>T	c.(703-705)Cga>Tga	p.R235*		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	235					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						TTTTTCGATCGCTTGATCATG	0.597													14	69					0	0	0	0	A	73002724	G	A	73002724	4	1	148	1	0	0	0	0	0	1	0	0	8405	1095	38	1	35	1	KLF9	9	73002724	Nonsense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	51031538	73002724	68210707	41	27471											
PTPDC1	138639	broad.mit.edu	37	chr9	96863938	96863938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttgatgtggtcttgggtgGagcaactgaaggagcctgta	8	11	16	6	0	1	2	0	2	1	0	1	4	1	4	1	4	3	3	1	4	3	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr9:96863938G>A	ENST00000375360.3	+	8	2282	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K	PTPDC1_ENST00000467049.1_3'UTR|PTPDC1_ENST00000288976.3_Missense_Mutation_p.E700K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	648							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GTCTTGGGTGGAGCAACTGAA	0.463													14	88					0	0	0	0	A	96863938	G	A	96863938	3	1	148	1	0	0	0	0	1	0	0	0	12853	1175	41	2	2210	2	PTPDC1	9	96863938	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	23861214	96863938	44349493	42	27472											
ASTN2	23245	broad.mit.edu	37	chr9	119903652	119903652	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgccgatgtgctgcgcAggggtggttgcagctgaccg	4	9	16	12	3	0	1	0	1	0	0	1	2	1	1	3	3	5	5	3	3	0	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr9:119903652A>G	ENST00000313400.4	-	4	1221	c.1121T>C	c.(1120-1122)cTg>cCg	p.L374P	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.L374P			O75129	ASTN2_HUMAN	astrotactin 2	374						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGTGCTGCGCAGGGGTGGTTG	0.592													3	49					0	0	0	0	G	119903652	A	G	119903652	3	3	148	1	0	0	0	0	1	0	0	0	1069	203	7	5		5	ASTN2	9	119903652	Missense_Mutation	SNP	A	TCGA-CQ-6224-01A-11D-1912-08	23039714	119903652	21309779	43	27473											
SAR1A	56681	broad.mit.edu	37	chr10	71921643	71921643	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagcacactgctgaagccaTtgtagatccactcaaagatg	13	8	10	10	0	1	3	1	1	0	2	2	4	2	4	2	1	3	3	2	1	3	2			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr10:71921643T>C	ENST00000373238.1	-	2	386	c.29A>G	c.(28-30)aAt>aGt	p.N10S	SAR1A_ENST00000373242.1_Missense_Mutation_p.N10S|SAR1A_ENST00000373241.4_Missense_Mutation_p.N10S|SAR1A_ENST00000373236.1_Missense_Mutation_p.N10S|SAR1A_ENST00000431664.2_Missense_Mutation_p.N10S|SAR1A_ENST00000458634.2_Intron|SAR1A_ENST00000477464.1_5'UTR			Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)	10					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GCTGAAGCCATTGTAGATCCA	0.358													4	31					0	0	0	0	C	71921643	T	C	71921643	3	2	148	1	0	0	0	0	1	0	0	0	13925	1493	52	5	591	5	SAR1A	10	71921643	Missense_Mutation	SNP	T	TCGA-CQ-6224-01A-11D-1912-08		71921643	63613104	44	27474											
EXOC6	54536	broad.mit.edu	37	chr10	94818062	94818062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagaagttgatagagacaGtcgtgaaacagctgagaagt	17	7	12	5	1	0	5	0	3	0	3	1	7	0	5	0	0	3	2	0	0	5	2			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr10:94818062G>A	ENST00000371552.4	+	22	2379	c.2350G>A	c.(2350-2352)Gtc>Atc	p.V784I	EXOC6_ENST00000260762.6_Missense_Mutation_p.V789I|EXOC6_ENST00000443748.2_Missense_Mutation_p.V686I|EXOC6_ENST00000371547.4_Missense_Mutation_p.V805I	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	789					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GATAGAGACAGTCGTGAAACA	0.398													8	43					0	0	0	0	A	94818062	G	A	94818062	3	1	148	1	0	0	0	0	1	0	0	0	5345	1029	36	4	2541	4	EXOC6	10	94818062	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	22896419	94818062	40716685	45	27475											
PYROXD2	84795	broad.mit.edu	37	chr10	100148126	100148126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttacctctgtctgcataagCgtctctctcctgctcgtccc	4	15	6	16	2	4	0	0	0	4	0	8	0	5	0	3	0	4	2	3	0	2	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr10:100148126C>T	ENST00000370575.4	-	13	1480	c.1432G>A	c.(1432-1434)Gct>Act	p.A478T	PYROXD2_ENST00000483923.1_Intron	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	478							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TCTGCATAAGCGTCTCTCTCC	0.612													8	26					0	0	0	0	T	100148126	C	T	100148126	3	4	148	1	0	0	0	0	1	0	0	0	12949	768	27	1	329	1	PYROXD2	10	100148126	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	5330064	100148126	35386621	46	27476											
DMBT1	1755	broad.mit.edu	37	chr10	124339094	124339094	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcttgtgttcccctgtagGatctgaatccagtttggccc	5	15	10	11	0	2	1	0	1	2	0	4	2	4	2	4	2	0	4	4	2	2	5			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr10:124339094G>T	ENST00000338354.3	+	10	786	c.679_splice	c.e10-1	p.G227_splice	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Splice_Site_p.G227_splice|DMBT1_ENST00000330163.4_Splice_Site_p.G227_splice|DMBT1_ENST00000368956.2_Splice_Site_p.G227_splice|DMBT1_ENST00000368909.3_Splice_Site_p.G227_splice|DMBT1_ENST00000344338.3_Splice_Site_p.G227_splice			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	227					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCCCCTGTAGGATCTGAATCC	0.527													39	391					6.19805e-25	6.91321e-25	1	0	T	124339094	G	T	124339094	5	4	148	1	0	0	0	0	0	0	1	0	4614	1188	41	2	718	2	DMBT1	10	124339094	Splice_Site	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	24190968	124339094	11195653	47	27477											
KRTAP5-2	440021	broad.mit.edu	37	chr11	1619077	1619077	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcagggcttgcagcagctgGactggcagcaggatgatcca	10	6	15	10	0	0	1	0	1	0	0	1	3	1	3	1	4	5	7	1	4	0	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:1619077G>C	ENST00000412090.1	-	1	447	c.404C>G	c.(403-405)tCc>tGc	p.S135C	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	135	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAGCAGCTGGACTGGCAGCA	0.622													16	188					0	0	0	0	C	1619077	G	C	1619077	3	2	148	1	0	0	0	0	1	0	0	0	8614	1174	41	2	133	2	KRTAP5-2	11	1619077	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08		1619077	133387439	48	27478											
DBX1	120237	broad.mit.edu	37	chr11	20177857	20177857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactgctcgagtgcgcgggcGaggggggcagcggccctggc	4	4	21	12	5	0	0	0	0	0	0	1	3	0	0	1	6	3	2	1	6	0	0			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:20177857G>A	ENST00000524983.2	-	4	1223	c.935C>T	c.(934-936)tCg>tTg	p.S312L	DBX1_ENST00000227256.3_Missense_Mutation_p.S351L			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	312					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GTGCGCGGGCGAGGGGGGCAG	0.701													10	68					0	0	0	0	A	20177857	G	A	20177857	3	1	148	1	0	0	0	0	1	0	0	0	4292	1059	37	1	100	1	DBX1	11	20177857	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	18558780	20177857	114828659	49	27479											
HIPK3	10114	broad.mit.edu	37	chr11	33308667	33308667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatccttcttatgcccGtcaaggtcaaatagaagtga	13	11	8	9	1	4	2	3	1	1	1	5	3	5	2	2	1	1	0	2	1	6	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:33308667G>A	ENST00000303296.4	+	2	1012	c.707G>A	c.(706-708)cGt>cAt	p.R236H	HIPK3_ENST00000379016.3_Missense_Mutation_p.R236H|HIPK3_ENST00000525975.1_Missense_Mutation_p.R236H|HIPK3_ENST00000456517.1_Missense_Mutation_p.R236H	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	236	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TCTTATGCCCGTCAAGGTCAA	0.398													3	32					0	0	0	0	A	33308667	G	A	33308667	3	1	148	1	0	0	0	0	1	0	0	0	7168	1145	40	1	709	1	HIPK3	11	33308667	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	13130810	33308667	101697849	50	27480											
LRP4	4038	broad.mit.edu	37	chr11	46894742	46894742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaccatccaagtttgcccGttcgatcttggcaatgtggc	9	11	10	11	2	1	1	0	0	1	1	3	2	2	1	3	2	2	3	3	2	3	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:46894742G>A	ENST00000378623.1	-	30	4734	c.4492C>T	c.(4492-4494)Cgg>Tgg	p.R1498W	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1498					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AAGTTTGCCCGTTCGATCTTG	0.552													6	52					0	0	0	0	A	46894742	G	A	46894742	3	1	148	1	0	0	0	0	1	0	0	0	9023	1144	40	1	1261	1	LRP4	11	46894742	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	13586075	46894742	88111774	51	27481											
MRPL21	219927	broad.mit.edu	37	chr11	68658835	68658835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaatctcaatgctgtttatCcggaggacagtctgcggggt	8	11	13	9	2	2	0	1	0	2	0	4	2	3	2	1	4	2	3	1	4	3	2			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:68658835C>T	ENST00000362034.2	-	7	591	c.582G>A	c.(580-582)cgG>cgA	p.R194R	MRPL21_ENST00000450904.2_Silent_p.R109R	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	194					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGCTGTTTATCCGGAGGACAG	0.473													12	235					0	0	0	0	T	68658835	C	T	68658835	2	4	148	1	0	0	0	0	0	0	0	1	9857	842	30	2		2	MRPL21	11	68658835	Silent	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	21764093	68658835	66347681	52	27482											
GAB2	9846	broad.mit.edu	37	chr11	77991788	77991788	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacaaaactatcctgcagctCcttcttgttaaaggtcaggc	11	11	7	12	0	2	0	1	0	1	0	4	0	4	0	2	2	3	3	2	2	5	4			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:77991788C>G	ENST00000361507.4	-	2	320	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	GAB2_ENST00000526030.1_5'UTR|GAB2_ENST00000340149.2_Missense_Mutation_p.E41Q	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	79	PH.				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TCCTGCAGCTCCTTCTTGTTA	0.473													19	136					0	0	0	0	G	77991788	C	G	77991788	3	3	148	1	0	0	0	0	1	0	0	0	6197	864	30	2	1831	2	GAB2	11	77991788	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	9332953	77991788	57014728	53	27483											
ST14	6768	broad.mit.edu	37	chr11	130078332	130078332	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccacgcagtggacggcCttcctgggcttgcacgacca	7	6	12	16	3	0	0	0	0	0	0	1	3	1	1	5	3	1	3	5	3	0	2			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:130078332C>T	ENST00000278742.5	+	17	2440	c.2022C>T	c.(2020-2022)gcC>gcT	p.A674A		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	674	Peptidase S1.			A -> V (in Ref. 3; BAB20376).	proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGTGGACGGCCTTCCTGGGCT	0.662													12	36					0	0	0	0	T	130078332	C	T	130078332	2	4	148	1	0	0	0	0	0	0	0	1	15301	668	24	4		4	ST14	11	130078332	Silent	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	52086544	130078332	4928184	54	27484											
TENC1	23371	broad.mit.edu	37	chr12	53447568	53447568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctctagcggcgaaacaCggccccagtcaggcgcatag	9	5	11	16	4	2	0	1	0	1	0	3	1	3	0	3	3	2	1	3	3	3	2			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr12:53447568C>A	ENST00000314250.6	+	5	562	c.272C>A	c.(271-273)aCg>aAg	p.T91K	TENC1_ENST00000451358.1_Missense_Mutation_p.T91K|TENC1_ENST00000552570.1_Missense_Mutation_p.T91K|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000314276.3_Missense_Mutation_p.T101K|TENC1_ENST00000549700.1_Missense_Mutation_p.T91K|RP11-983P16.4_ENST00000546793.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000546602.1_Missense_Mutation_p.T91K|TENC1_ENST00000379902.3_5'UTR	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	91					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CGGCGAAACACGGCCCCAGTC	0.567											OREG0021855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	35					0.000978159	0.00104098	1	0	A	53447568	C	A	53447568	3	1	148	1	0	0	0	0	1	0	0	0	15852	536	19	3	399	3	TENC1	12	53447568	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08		53447568	80404327	55	27485											
STAB2	55576	broad.mit.edu	37	chr12	104089380	104089380	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaccaaacctgctcatgcGgctggaacagatgcctgact	10	9	9	13	1	1	2	1	1	0	1	1	3	1	3	3	2	6	2	3	2	3	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr12:104089380G>C	ENST00000388887.2	+	32	3632	c.3428G>C	c.(3427-3429)cGg>cCg	p.R1143P		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1143	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGCTCATGCGGCTGGAACAG	0.502													28	99					0	0	0	0	C	104089380	G	C	104089380	3	2	148	1	0	0	0	0	1	0	0	0	15328	1116	39	3	3554	3	STAB2	12	104089380	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	50641812	104089380	29762515	56	27486											
ATP8A2	51761	broad.mit.edu	37	chr13	26343230	26343230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtggatgtggtgaagaagCgggtgaaggccatcaccctc	10	8	15	8	1	1	3	1	2	0	1	2	4	1	4	2	4	1	0	2	4	4	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr13:26343230C>T	ENST00000381655.2	+	26	2573	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W	ATP8A2_ENST00000255283.8_Missense_Mutation_p.R771W|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	771					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R811R(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGTGAAGAAGCGGGTGAAGGC	0.537													22	62					0	0	0	0	T	26343230	C	T	26343230	3	4	148	1	0	0	0	0	1	0	0	0	1197	759	27	1	2533	1	ATP8A2	13	26343230	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08		26343230	88826648	57	27487											
CCNA1	8900	broad.mit.edu	37	chr13	37011811	37011811	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggatcagaaaatgccttcCctccagctggaaagaaagca	14	7	9	11	0	1	2	1	0	0	2	3	4	3	4	3	2	3	2	3	2	4	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr13:37011811C>G	ENST00000418263.1	+	3	690	c.340C>G	c.(340-342)Cct>Gct	p.P114A	CCNA1_ENST00000255465.4_Missense_Mutation_p.P115A|CCNA1_ENST00000449823.1_Missense_Mutation_p.P71A|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000440264.1_Missense_Mutation_p.P71A	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	115					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AAATGCCTTCCCTCCAGCTGG	0.478													6	92					0	0	0	0	G	37011811	C	G	37011811	3	3	148	1	0	0	0	0	1	0	0	0	2938	623	22	4	353	4	CCNA1	13	37011811	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	10668581	37011811	78158067	58	27488											
SYNJ2BP	55333	broad.mit.edu	37	chr14	70842394	70842394	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaaagtgatacctaccCtgtgctgcactctcagagac	10	9	9	13	0	2	2	2	1	1	1	3	3	2	2	2	1	4	3	2	1	3	2			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr14:70842394C>T	ENST00000256366.4	-	3	377	c.297_splice	c.e3+1	p.R99_splice	SYNJ2BP_ENST00000554216.1_5'UTR|RP11-718G2.3_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		GATACCTACCCTGTGCTGCAC	0.463													22	112					0	0	0	0	T	70842394	C	T	70842394	5	4	148	1	0	0	0	0	0	0	1	0	15545	695	24	4	149	4	SYNJ2BP	14	70842394	Splice_Site	SNP	C	TCGA-CQ-6224-01A-11D-1912-08		70842394	36507146	59	27489											
TC2N	123036	broad.mit.edu	37	chr14	92258736	92258736	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgaaggtggtgttataTccaaagagtaatccatttcc	11	16	8	6	0	0	2	0	1	0	1	3	2	3	2	3	2	0	2	3	2	5	6			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr14:92258736T>A	ENST00000435962.2	-	9	1345	c.1022A>T	c.(1021-1023)gAt>gTt	p.D341V	TC2N_ENST00000556018.1_Intron|TC2N_ENST00000360594.5_Missense_Mutation_p.D341V|TC2N_ENST00000340892.5_Missense_Mutation_p.D341V	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	341						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TGGTGTTATATCCAAAGAGTA	0.363													22	69					0	0	0	0	A	92258736	T	A	92258736	3	1	148	1	0	0	0	0	1	0	0	0	15759	1435	50	5	466	5	TC2N	14	92258736	Missense_Mutation	SNP	T	TCGA-CQ-6224-01A-11D-1912-08	21416342	92258736	15090804	60	27490											
CHGA	1113	broad.mit.edu	37	chr14	93397703	93397703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaggccccaggccctccCggagcccatgcaggagtcca	8	3	12	18	1	0	0	0	0	0	0	2	2	2	2	7	4	3	1	7	4	0	0			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr14:93397703C>A	ENST00000216492.5	+	6	744	c.464C>A	c.(463-465)cCg>cAg	p.P155Q	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	155					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGGCCCTCCCGGAGCCCATG	0.607													3	36					0.004672	0.00492684	1	0	A	93397703	C	A	93397703	3	1	148	1	0	0	0	0	1	0	0	0	3367	652	23	3	486	3	CHGA	14	93397703	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	1138967	93397703	13951837	61	27491											
NDNL2	56160	broad.mit.edu	37	chr15	29561416	29561416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttggtcacccctcatctcgGcatcctcctccacaggctcc	5	10	6	20	1	3	0	2	0	1	0	8	0	7	0	6	3	0	2	6	3	0	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr15:29561416G>A	ENST00000332303.4	-	1	617	c.494C>T	c.(493-495)gCc>gTc	p.A165V	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	165	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCTCATCTCGGCATCCTCCTC	0.547													4	111					0	0	0	0	A	29561416	G	A	29561416	3	1	148	1	0	0	0	0	1	0	0	0	10318	1203	42	4	424	4	NDNL2	15	29561416	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08		29561416	72969976	62	27492											
EIF2AK4	440275	broad.mit.edu	37	chr15	40293317	40293317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgaagtgctgcaccaCacgctgaccaacgtggatgg	10	7	12	12	2	0	2	0	2	0	0	0	3	0	3	2	2	4	4	2	2	2	0			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr15:40293317C>A	ENST00000263791.5	+	21	3094	c.3051C>A	c.(3049-3051)caC>caA	p.H1017Q	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.H989Q	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1017					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TGCTGCACCACACGCTGACCA	0.587													6	39					3.59834e-05	3.86488e-05	1	0	A	40293317	C	A	40293317	3	1	148	1	0	0	0	0	1	0	0	0	5035	477	17	4	3133	4	EIF2AK4	15	40293317	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	10731901	40293317	62238075	63	27493											
IRX5	10265	broad.mit.edu	37	chr16	54966559	54966559	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctcaaggcctggctcaaCgagcaccgcaagaaccccta	12	4	8	17	2	2	1	2	0	0	1	2	2	2	1	5	2	3	3	5	2	5	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr16:54966559C>T	ENST00000394636.4	+	2	736	c.399C>T	c.(397-399)aaC>aaT	p.N133N	IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.N67N|IRX5_ENST00000320990.5_Silent_p.N133N			P78411	IRX5_HUMAN	iroquois homeobox 5	133					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCTGGCTCAACGAGCACCGCA	0.627													18	88					0	0	0	0	T	54966559	C	T	54966559	2	4	148	1	0	0	0	0	0	0	0	1	7900	535	19	1		1	IRX5	16	54966559	Silent	SNP	C	TCGA-CQ-6224-01A-11D-1912-08		54966559	35388194	64	27494											
ZFPM1	161882	broad.mit.edu	37	chr16	88601287	88601287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccaacggcaaccaccGgtactgccgtctttgcaaca	9	7	9	16	3	1	0	0	0	1	0	1	0	1	0	4	2	7	4	4	2	4	2			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr16:88601287G>C	ENST00000319555.3	+	10	3243	c.2921G>C	c.(2920-2922)cGg>cCg	p.R974P		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	974					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCAACCACCGGTACTGCCGT	0.662													7	40					0	0	0	0	C	88601287	G	C	88601287	3	2	148	1	0	0	0	0	1	0	0	0	17752	1116	39	3	2959	3	ZFPM1	16	88601287	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	33634728	88601287	1753466	65	27495											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	63					0	0	0	0	T	7577538	C	T	7577538	3	4	148	1	0	0	0	0	1	0	0	0	16476	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08		7577538	73617672	66	27496											
DNAH2	146754	broad.mit.edu	37	chr17	7734412	7734412	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgactccctaggttgtcagCactggagacttatttcatcc	9	13	8	11	0	2	2	2	1	0	1	4	3	4	2	2	2	1	2	2	2	2	4			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:7734412C>G	ENST00000572933.1	+	80	13699	c.12239C>G	c.(12238-12240)gCa>gGa	p.A4080G	DNAH2_ENST00000389173.2_Missense_Mutation_p.A4080G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4080					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGTTGTCAGCACTGGAGACT	0.517													4	301					0	0	0	0	G	7734412	C	G	7734412	3	3	148	1	0	0	0	0	1	0	0	0	4639	710	25	4	12553	4	DNAH2	17	7734412	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	156874	7734412	73460798	67	27497											
MRPL45	84311	broad.mit.edu	37	chr17	36453192	36453192	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttctcttgtttatcgaggTttttgggctggtggtttcgg	2	19	15	5	2	1	0	0	0	1	0	4	1	1	0	0	6	0	5	0	6	1	7	rs139299251	by1000genomes	TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:36453192T>G	ENST00000312513.5	+	1	204	c.43T>G	c.(43-45)Ttt>Gtt	p.F15V		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	15					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTATCGAGGTTTTTGGGCTG	0.582													5	60					0	0	0	0	G	36453192	T	G	36453192	3	3	148	1	0	0	0	0	1	0	0	0	9879	1725	60	5		5	MRPL45	17	36453192	Missense_Mutation	SNP	T	TCGA-CQ-6224-01A-11D-1912-08	28718780	36453192	44742018	68	27498											
KCNH4	23415	broad.mit.edu	37	chr17	40322231	40322231	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagagtgaagtacagtgcCgcgatgtaggcgctgcgccg	8	8	15	10	5	0	2	0	1	0	1	0	3	0	2	2	1	3	3	2	1	4	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:40322231C>T	ENST00000264661.3	-	8	1616	c.1284G>A	c.(1282-1284)gcG>gcA	p.A428A	KCNH4_ENST00000607371.1_Silent_p.A428A	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	428					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGTACAGTGCCGCGATGTAGG	0.602													15	27					0	0	0	0	T	40322231	C	T	40322231	2	4	148	1	0	0	0	0	0	0	0	1	8087	639	23	1		1	KCNH4	17	40322231	Silent	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	3869039	40322231	40872979	69	27499											
OR4D1	26689	broad.mit.edu	37	chr17	56232955	56232955	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgggcctggtagtagcCgcctgggtggggggctttgt	2	12	20	7	1	0	0	0	0	0	0	0	0	0	0	3	6	1	3	3	6	2	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:56232955C>T	ENST00000268912.5	+	1	462	c.441C>T	c.(439-441)gcC>gcT	p.A147A		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGGTAGTAGCCGCCTGGGTGG	0.532													21	59					0	0	0	0	T	56232955	C	T	56232955	2	4	148	1	0	0	0	0	0	0	0	1	11124	639	23	1		1	OR4D1	17	56232955	Silent	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	15910724	56232955	24962255	70	27500											
CCDC47	57003	broad.mit.edu	37	chr17	61829244	61829244	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccttaacaaccaacagaaCacaagcagtcatccttacaa	18	7	3	13	0	1	1	1	0	0	1	2	1	2	1	3	0	7	1	3	0	8	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:61829244C>A	ENST00000582252.1	-	12	1604	c.1427G>T	c.(1426-1428)tGt>tTt	p.C476F	CCDC47_ENST00000403162.3_Intron|RP11-51F16.8_ENST00000580553.1_Intron|CCDC47_ENST00000225726.5_Intron			Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	0						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ACCAACAGAACACAAGCAGTC	0.368													30	78					4.22769e-11	4.62653e-11	1	0	A	61829244	C	A	61829244	3	1	148	1	0	0	0	0	1	0	0	0	2845	493	17	4		4	CCDC47	17	61829244	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	5596289	61829244	19365966	71	27501											
RGS9	8787	broad.mit.edu	37	chr17	63206625	63206625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccaccctcccttttatgCggcgtcacctgcgctccagc	4	10	8	19	3	1	0	1	0	0	0	4	0	4	0	5	1	3	2	5	1	1	2			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:63206625C>T	ENST00000449996.3	+	17	1372	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	RGS9_ENST00000443584.3_Missense_Mutation_p.R434W|RGS9_ENST00000262406.9_Missense_Mutation_p.R437W	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	437					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCCTTTTATGCGGCGTCACCT	0.572													4	128					0	0	0	0	T	63206625	C	T	63206625	3	4	148	1	0	0	0	0	1	0	0	0	13396	759	27	1	1375	1	RGS9	17	63206625	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	1377381	63206625	17988585	72	27502											
PCYT2	5833	broad.mit.edu	37	chr17	79866789	79866789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcacagttgtatttgtccagGgtctctagtgtagtgacgta	8	15	11	7	1	2	1	1	1	1	0	4	1	3	1	1	1	0	4	1	1	4	6			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:79866789G>A	ENST00000538936.2	-	3	411	c.303C>T	c.(301-303)acC>acT	p.T101T	PCYT2_ENST00000538721.2_Silent_p.T101T|PCYT2_ENST00000331285.3_Silent_p.T23T|PCYT2_ENST00000570388.1_Silent_p.T23T|PCYT2_ENST00000571105.1_Silent_p.T101T|PCYT2_ENST00000570391.1_Silent_p.T69T	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	101	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ATTTGTCCAGGGTCTCTAGTG	0.587													10	84					0	0	0	0	A	79866789	G	A	79866789	2	1	148	1	0	0	0	0	0	0	0	1	11683	1219	43	4		4	PCYT2	17	79866789	Silent	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	16660164	79866789	1328421	73	27503											
EPB41L3	23136	broad.mit.edu	37	chr18	5396229	5396229	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatatgtgatggttttggTttcggtgtgaactactggca	7	17	12	5	1	1	2	1	2	0	0	2	2	1	2	0	4	2	3	0	4	3	6			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr18:5396229T>G	ENST00000341928.2	-	19	3284	c.2944A>C	c.(2944-2946)Acc>Ccc	p.T982P	EPB41L3_ENST00000544123.1_Missense_Mutation_p.T813P|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T760P|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T760P|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T982P|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.T287P|EPB41L3_ENST00000427684.2_Missense_Mutation_p.T279P	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	982	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATGGTTTTGGTTTCGGTGTGA	0.458													5	187					0	0	0	0	G	5396229	T	G	5396229	3	3	148	1	0	0	0	0	1	0	0	0	5192	1725	60	5	335	5	EPB41L3	18	5396229	Missense_Mutation	SNP	T	TCGA-CQ-6224-01A-11D-1912-08		5396229	72681019	74	27504											
TCEB3B	51224	broad.mit.edu	37	chr18	44561118	44561118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccggaggggagctgtgcgcGttggagaggcccgatagcgg	6	6	20	9	5	0	1	0	0	0	1	1	5	1	3	2	6	3	2	2	6	1	2			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr18:44561118G>A	ENST00000332567.4	-	1	870	c.518C>T	c.(517-519)aCg>aTg	p.T173M	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	173					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGCTGTGCGCGTTGGAGAGGC	0.687													7	71					0	0	0	0	A	44561118	G	A	44561118	3	1	148	1	0	0	0	0	1	0	0	0	15776	1145	40	1	1747	1	TCEB3B	18	44561118	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	39164889	44561118	33516130	75	27505											
ICAM5	7087	broad.mit.edu	37	chr19	10404565	10404565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcgggcacttaccgctgcGaagccaccaaccctcggggc	8	5	12	16	4	0	0	0	0	0	0	1	1	0	0	4	3	5	2	4	3	3	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:10404565G>A	ENST00000221980.4	+	7	1720	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	553	Ig-like C2-type 6.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TTACCGCTGCGAAGCCACCAA	0.652													12	42					0	0	0	0	A	10404565	G	A	10404565	3	1	148	1	0	0	0	0	1	0	0	0	7536	1059	37	1	1683	1	ICAM5	19	10404565	Missense_Mutation	SNP	G	TCGA-CQ-6224-01A-11D-1912-08		10404565	48724418	76	27506											
DCAF15	90379	broad.mit.edu	37	chr19	14070879	14070879	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccactgaggagggccagctCcggtgagcgcggggatcctg	6	5	17	13	3	0	2	0	2	0	0	2	4	2	4	4	5	2	1	4	5	0	0			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:14070879C>T	ENST00000254337.6	+	10	1545	c.1524C>T	c.(1522-1524)ctC>ctT	p.L508L		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	508										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						AGGGCCAGCTCCGGTGAGCGC	0.667											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	25					0	0	0	0	T	14070879	C	T	14070879	2	4	148	1	0	0	0	0	0	0	0	1	4300	842	30	2		2	DCAF15	19	14070879	Silent	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	3666314	14070879	45058104	77	27507											
CD97	976	broad.mit.edu	37	chr19	14517888	14517888	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagggcgctgaccatcacGgccatcgcgcagctcttcct	6	7	11	17	5	2	1	1	1	1	0	4	1	3	1	3	2	1	4	3	2	0	1	rs141170739	byFrequency	TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:14517888G>A	ENST00000242786.5	+	18	2303	c.2223G>A	c.(2221-2223)acG>acA	p.T741T	CD97_ENST00000358600.3_Silent_p.T648T|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Silent_p.T692T	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	741					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGACCATCACGGCCATCGCGC	0.637													11	68					0	0	0	0	A	14517888	G	A	14517888	2	1	148	1	0	0	0	0	0	0	0	1	3078	1103	39	1		1	CD97	19	14517888	Silent	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	447009	14517888	44611095	78	27508											
SPTBN4	57731	broad.mit.edu	37	chr19	41073713	41073714	+	Frame_Shift_Ins	INS	-	-	C																															aaggggcttggagcccctggINScccgccgagcctcggacacg																										TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:41073713_41073714insC	ENST00000352632.3	+	31	6567_6568	c.6481_6482insC	c.(6481-6483)ccgfs	p.P2161fs	SPTBN4_ENST00000598249.1_Frame_Shift_Ins_p.P2161fs|SPTBN4_ENST00000392025.1_Frame_Shift_Ins_p.P904fs			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2161					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGCCCCTGGCCCGCCGAGCC	0.718													2	4	---	---	---	---					C	41073714	-	C	41073713	7	5	148	1	0	1	1	0	0	0	0	0	15211	1203	42	0	6693	0	SPTBN4	19	41073713	Frame_Shift_Ins	INS	-	TCGA-CQ-6224-01A-11D-1912-08	26555825	41073713	18055270	79	27509											
PTOV1	53635	broad.mit.edu	37	chr19	50357788	50357788	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcttggagcggcgtcctCgagtggcaggaggtgagtct	5	9	18	9	3	1	1	0	1	1	0	3	4	2	3	1	6	1	2	1	6	0	1			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:50357788C>T	ENST00000391842.1	+	2	467	c.297C>T	c.(295-297)ctC>ctT	p.L99L	PTOV1_ENST00000601638.1_Silent_p.L67L|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000221557.9_Silent_p.L67L|PTOV1_ENST00000599732.1_Silent_p.L99L|PTOV1_ENST00000600603.1_Silent_p.L67L|PTOV1_ENST00000601675.1_Silent_p.L99L	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCGGCGTCCTCGAGTGGCAGG	0.672													5	64					0	0	0	0	T	50357788	C	T	50357788	2	4	148	1	0	0	0	0	0	0	0	1	12849	871	31	1		1	PTOV1	19	50357788	Silent	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	9284075	50357788	8771195	80	27510											
TMEM190	147744	broad.mit.edu	37	chr19	55889198	55889198	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaggaagcacatgtgggcGctggtctggacgtgcagcgg	7	6	19	9	4	1	0	0	0	1	0	1	3	1	3	0	6	3	3	0	6	1	0			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:55889198G>A	ENST00000291934.3	+	4	267	c.249G>A	c.(247-249)gcG>gcA	p.A83A	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	83						integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACATGTGGGCGCTGGTCTGGA	0.692													5	64					0	0	0	0	A	55889198	G	A	55889198	2	1	148	1	0	0	0	0	0	0	0	1	16208	1074	38	1		1	TMEM190	19	55889198	Silent	SNP	G	TCGA-CQ-6224-01A-11D-1912-08	5531410	55889198	3239785	81	27511											
ZNF549	256051	broad.mit.edu	37	chr19	58049987	58049987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatgtggaaaagtcttcAgccaccaaaaaagacttctt	16	10	7	8	0	3	2	1	1	2	1	3	3	3	3	2	1	1	0	2	1	6	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:58049987A>G	ENST00000376233.3	+	4	1796	c.1615A>G	c.(1615-1617)Agc>Ggc	p.S539G	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.S526G	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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;0.026)		AAAAGTCTTCAGCCACCAAAA	0.443													4	56					0	0	0	0	G	58049987	A	G	58049987	3	3	148	1	0	0	0	0	1	0	0	0	18076	188	7	5	1586	5	ZNF549	19	58049987	Missense_Mutation	SNP	A	TCGA-CQ-6224-01A-11D-1912-08	2160789	58049987	1078996	82	27512											
GDF5	8200	broad.mit.edu	37	chr20	34022565	34022565	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtacctctgcttcctgacCacgggacctcggtcatctag	7	10	9	15	3	3	1	1	1	2	0	5	2	4	2	4	2	2	2	4	2	2	3			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr20:34022565C>T	ENST00000374372.1	-	4	1151	c.648G>A	c.(646-648)gtG>gtA	p.V216V	GDF5_ENST00000374369.3_Silent_p.V216V|GDF5OS_ENST00000374375.1_Silent_p.T203T			P43026	GDF5_HUMAN	growth differentiation factor 5	216					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GCTTCCTGACCACGGGACCTC	0.612													38	151					0	0	0	0	T	34022565	C	T	34022565	2	4	148	1	0	0	0	0	0	0	0	1	6367	581	21	4		4	GDF5	20	34022565	Silent	SNP	C	TCGA-CQ-6224-01A-11D-1912-08		34022565	29002955	83	27513											
USP9X	8239	broad.mit.edu	37	chrX	41077799	41077799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttattgcacatttttccttGcaagatgggccatgtccttc	7	17	7	10	0	0	1	0	0	0	1	3	1	2	1	3	1	2	2	3	1	2	7			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chrX:41077799G>A	ENST00000324545.7	+	37	7017	c.6384G>A	c.(6382-6384)ttG>ttA	p.L2128L	USP9X_ENST00000378308.2_Silent_p.L2128L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2128					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATTTTTCCTTGCAAGATGGGC	0.413													37	44					0	0	0	0	A	41077799	G	A	41077799	2	1	148	1	0	0	0	0	0	0	0	1	17186	1310	46	4		4	USP9X	23	41077799	Silent	SNP	G	TCGA-CQ-6224-01A-11D-1912-08		41077799	114192761	84	27514											
OGT	8473	broad.mit.edu	37	chrX	70776891	70776891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagccttgcagtgttataCgcgtgccatccaaattaatc	10	11	10	10	2	0	0	0	0	0	0	2	1	1	1	3	1	4	2	3	1	4	4			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chrX:70776891C>T	ENST00000373719.3	+	10	1473	c.1256C>T	c.(1255-1257)aCg>aTg	p.T419M	OGT_ENST00000373701.3_Missense_Mutation_p.T409M	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	419					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CAGTGTTATACGCGTGCCATC	0.403													3	17					0	0	0	0	T	70776891	C	T	70776891	3	4	148	1	0	0	0	0	1	0	0	0	10918	536	19	1	1294	1	OGT	23	70776891	Missense_Mutation	SNP	C	TCGA-CQ-6224-01A-11D-1912-08	29699092	70776891	84493669	85	27515											
ATRX	546	broad.mit.edu	37	chrX	76937546	76937546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaactatctcctttccctgTtgacttctcagcataatcag	10	14	4	13	0	3	1	2	1	2	0	6	1	4	1	2	0	2	2	2	0	3	5			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chrX:76937546T>C	ENST00000373344.5	-	9	3416	c.3202A>G	c.(3202-3204)Aca>Gca	p.T1068A	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.T1030A	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1068					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCTTTCCCTGTTGACTTCTCA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						32	151					0	0	0	0	C	76937546	T	C	76937546	3	2	148	1	0	0	0	0	1	0	0	0	1212	1725	60	5	4384	5	ATRX	23	76937546	Missense_Mutation	SNP	T	TCGA-CQ-6224-01A-11D-1912-08	6160655	76937546	78333014	86	27516											
PRAMEF18	391003	broad.mit.edu	37	chr1	13475012	13475012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggttggagcagcggctcaGggcaggcaggatgaccctga	9	5	18	9	1	1	2	1	2	0	0	1	5	1	4	1	6	2	5	1	6	0	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:13475012G>T	ENST00000376126.2	-	3	1116	c.1117C>A	c.(1117-1119)Ctg>Atg	p.L373M		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	373										lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCGGCTCAGGGCAGGCAGG	0.572													6	179					0.00307968	0.00348138	1	0	T	13475012	G	T	13475012	3	4	149	1	0	0	0	0	1	0	0	0	12510	991	35	4	326	4	PRAMEF18	1	13475012	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08		13475012	235775609	1	27517											
CLCNKB	1188	broad.mit.edu	37	chr1	16375690	16375690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggggcttctttgcggccaCctgcggggccttcatgttcc	3	11	14	13	2	2	0	1	0	1	0	3	1	3	0	4	5	2	2	4	5	0	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:16375690C>T	ENST00000375679.4	+	8	842	c.731C>T	c.(730-732)aCc>aTc	p.T244I	CLCNKB_ENST00000375667.3_Missense_Mutation_p.T75I	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCGGCCACCTGCGGGGCC	0.657													60	16					0	0	0	0	T	16375690	C	T	16375690	3	4	149	1	0	0	0	0	1	0	0	0	3500	507	18	4	905	4	CLCNKB	1	16375690	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	2900678	16375690	232874931	2	27518											
PTCH2	8643	broad.mit.edu	37	chr1	45293266	45293266	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacctgagctgggcgctcaGgaaggcatgctccttggtgc	6	9	15	11	1	1	1	1	1	0	0	2	2	2	2	2	4	4	5	2	4	2	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:45293266G>A	ENST00000447098.2	-	15	2190	c.2179C>T	c.(2179-2181)Ctg>Ttg	p.L727L	PTCH2_ENST00000372192.3_Silent_p.L727L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	727					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGGGCGCTCAGGAAGGCATGC	0.637									Basal Cell Nevus syndrome				32	8					0	0	0	0	A	45293266	G	A	45293266	2	1	149	1	0	0	0	0	0	0	0	1	12810	991	35	4		4	PTCH2	1	45293266	Silent	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	28917576	45293266	203957355	3	27519											
WDR78	79819	broad.mit.edu	37	chr1	67292683	67292683	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctgcagaacagcttaaaAatacatcatgacaaaatgga	20	8	6	7	0	2	2	1	1	1	1	2	3	2	3	0	1	4	2	0	1	8	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:67292683A>G	ENST00000371026.3	-	15	2214	c.2159T>C	c.(2158-2160)tTt>tCt	p.F720S	WDR78_ENST00000431318.1_Missense_Mutation_p.F433S|RP11-342H21.2_ENST00000456389.1_RNA	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	720										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACAGCTTAAAAATACATCATG	0.313													31	40					0	0	0	0	G	67292683	A	G	67292683	3	3	149	1	0	0	0	0	1	0	0	0	17424	14	1	5	399	5	WDR78	1	67292683	Missense_Mutation	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	21999417	67292683	181957938	4	27520											
WDR3	10885	broad.mit.edu	37	chr1	118497948	118497948	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctttatagccttcagcttAtgtattagagatttttaaag	11	18	6	6	0	1	1	1	0	0	1	2	2	2	1	2	0	2	2	2	0	7	10			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:118497948A>T	ENST00000349139.4	+	24	2467	c.2420A>T	c.(2419-2421)tAt>tTt	p.Y807F	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	807						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CCTTCAGCTTATGTATTAGAG	0.358													23	3					0	0	0	0	T	118497948	A	T	118497948	3	4	149	1	0	0	0	0	1	0	0	0	17381	449	16	5	2510	5	WDR3	1	118497948	Missense_Mutation	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	51205265	118497948	130752673	5	27521											
WARS2	10352	broad.mit.edu	37	chr1	119619197	119619197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggattcctgtaggttGaatgccggaaaatactcgct	10	11	13	7	2	0	1	0	1	0	0	2	4	1	4	2	4	2	3	2	4	5	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:119619197G>T	ENST00000369426.5	-	2	127	c.124C>A	c.(124-126)Caa>Aaa	p.Q42K	WARS2_ENST00000537870.1_5'UTR|WARS2_ENST00000235521.4_Missense_Mutation_p.Q42K			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	42					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CCTGTAGGTTGAATGCCGGAA	0.438													87	22					3.99893e-49	5.11338e-49	1	0	T	119619197	G	T	119619197	3	4	149	1	0	0	0	0	1	0	0	0	17346	1299	45	2	1007	2	WARS2	1	119619197	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	1121249	119619197	129631424	6	27522											
LCE1E	353135	broad.mit.edu	37	chr1	152759999	152759999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctctgggggaggtggctGctgcctgagccaccacaggc	6	6	16	13	0	1	1	0	1	1	0	1	2	1	2	3	5	4	3	3	5	0	0			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:152759999G>C	ENST00000368770.3	+	2	277	c.224G>C	c.(223-225)tGc>tCc	p.C75S	LCE1E_ENST00000368771.1_Missense_Mutation_p.C75S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	75	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGTGGCTGCTGCCTGAGC	0.687													4	117					0	0	0	0	C	152759999	G	C	152759999	3	2	149	1	0	0	0	0	1	0	0	0	8716	1319	46	4	226	4	LCE1E	1	152759999	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	33140802	152759999	96490622	7	27523											
SMG5	23381	broad.mit.edu	37	chr1	156233237	156233237	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccgaagccagtccaggaaGactttcacagcaggaagcag	13	5	12	11	1	1	1	1	0	0	1	3	4	3	3	3	2	3	2	3	2	3	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:156233237G>C	ENST00000361813.5	-	13	2124	c.1980C>G	c.(1978-1980)gtC>gtG	p.V660V	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	660					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGTCCAGGAAGACTTTCACAG	0.597													52	67					0	0	0	0	C	156233237	G	C	156233237	2	2	149	1	0	0	0	0	0	0	0	1	14884	929	33	2		2	SMG5	1	156233237	Silent	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	3473238	156233237	93017384	8	27524											
PVRL4	81607	broad.mit.edu	37	chr1	161049448	161049448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgacccggcactcgtacTcgccctcatccgcctgcact	5	9	8	19	4	1	1	1	1	0	0	4	1	2	1	4	1	3	4	4	1	1	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:161049448T>C	ENST00000368012.3	-	2	673	c.371A>G	c.(370-372)gAg>gGg	p.E124G		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	124	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCACTCGTACTCGCCCTCATC	0.716													6	13					0	0	0	0	C	161049448	T	C	161049448	3	2	149	1	0	0	0	0	1	0	0	0	12924	1551	54	5	1193	5	PVRL4	1	161049448	Missense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	4816211	161049448	88201173	9	27525											
KIF21B	23046	broad.mit.edu	37	chr1	200956237	200956237	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atctcaacgagggaggccagGgacttggtgatgttcttggt	8	11	15	7	1	2	1	1	1	2	0	3	4	2	3	1	5	1	1	1	5	1	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:200956237G>A	ENST00000332129.2	-	25	3817	c.3501C>T	c.(3499-3501)tcC>tcT	p.S1167S	KIF21B_ENST00000360529.5_Silent_p.S1167S|KIF21B_ENST00000422435.2_Silent_p.S1167S|KIF21B_ENST00000461742.2_Silent_p.S1167S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1167					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S1167S(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGGAGGCCAGGGACTTGGTGA	0.592													9	178					0	0	0	0	A	200956237	G	A	200956237	2	1	149	1	0	0	0	0	0	0	0	1	8340	1219	43	4		4	KIF21B	1	200956237	Silent	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	39906789	200956237	48294384	10	27526											
MYOG	4656	broad.mit.edu	37	chr1	203054717	203054717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcgatgtactggatggCactgcgcaggatctccacct	7	9	12	13	3	1	0	0	0	1	0	3	3	1	2	2	3	2	4	2	3	1	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:203054717C>T	ENST00000241651.4	-	1	447	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	125	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						TACTGGATGGCACTGCGCAGG	0.672													10	55					0	0	0	0	T	203054717	C	T	203054717	3	4	149	1	0	0	0	0	1	0	0	0	10160	710	25	4	313	4	MYOG	1	203054717	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	2098480	203054717	46195904	11	27527											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650590	232650590	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcggcatcaatgtcactgaTagtgacatcactattgctcc	10	13	7	11	1	3	2	3	2	0	0	5	2	4	2	1	1	1	2	1	1	3	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:232650590T>C	ENST00000366630.1	-	2	854	c.496A>G	c.(496-498)Atc>Gtc	p.I166V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.I166V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	166					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATGTCACTGATAGTGACATCA	0.502													130	19					0	0	0	0	C	232650590	T	C	232650590	3	2	149	1	0	0	0	0	1	0	0	0	14418	1406	49	5	4756	5	SIPA1L2	1	232650590	Missense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	29595873	232650590	16600031	12	27528											
RRM2	6241	broad.mit.edu	37	chr2	10267005	10267006	+	Frame_Shift_Ins	INS	-	-	T																															cgtatgtgcctactagggaaINStttctcttcaatgccattga																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:10267005_10267006insT	ENST00000360566.2	+	6	1044_1045	c.753_754insT	c.(751-756)gattctfs	p.S252fs	RRM2_ENST00000304567.5_Frame_Shift_Ins_p.S192fs	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	192					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTACTAGGGAATTTCTCTTCAA	0.465													16	229	---	---	---	---					T	10267006	-	T	10267005	7	5	149	1	0	1	1	0	0	0	0	0	13767	98	4	0	775	0	RRM2	2	10267005	Frame_Shift_Ins	INS	-	TCGA-CQ-6225-01A-11D-1912-08		10267005	232932368	13	27529											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10908907	10908908	+	Frame_Shift_Del	DEL	AA	AA	-																															gcctacaacactctgaagacAaacctggagaacctggaaaa																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:10908907_10908908delAA	ENST00000381661.3	+	6	550_551	c.441_442delAA	c.(439-444)acacfs	p.TN147fs	ATP6V1C2_ENST00000272238.4_Frame_Shift_Del_p.TN147fs|RP11-791G15.2_ENST00000606907.1_lincRNA	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	147					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CTCTGAAGACAAACCTGGAGAA	0.569													35	37	---	---	---	---					-	10908908	AA	-	10908907	7	5	149	1	0	1	0	1	0	0	0	0	1185	117	5	0	459	0	ATP6V1C2	2	10908907	Frame_Shift_Del	DEL	AA	TCGA-CQ-6225-01A-11D-1912-08	641902	10908907	232290466	14	27530											
CRIM1	51232	broad.mit.edu	37	chr2	36691694	36691694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagatgcgagtgtctctctgGcttatgtggtttccccgtgt	4	15	12	10	2	2	1	0	0	2	1	4	2	3	1	2	2	1	2	2	2	1	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:36691694G>C	ENST00000280527.2	+	5	1254	c.887G>C	c.(886-888)gGc>gCc	p.G296A		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	296					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGTCTCTCTGGCTTATGTGGT	0.493													67	106					0	0	0	0	C	36691694	G	C	36691694	3	2	149	1	0	0	0	0	1	0	0	0	3903	1203	42	4	905	4	CRIM1	2	36691694	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	25782787	36691694	206507679	15	27531											
PRKD3	23683	broad.mit.edu	37	chr2	37520323	37520323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcatgtatttcatctgctGaggtaatcagctgcaaaatg	11	14	8	8	0	4	1	3	1	1	0	4	1	4	1	0	1	3	5	0	1	4	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:37520323G>A	ENST00000379066.1	-	3	1142	c.380C>T	c.(379-381)tCa>tTa	p.S127L	PRKD3_ENST00000234179.2_Missense_Mutation_p.S127L			O94806	KPCD3_HUMAN	protein kinase D3	127					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTCATCTGCTGAGGTAATCAG	0.408													23	60					0	0	0	0	A	37520323	G	A	37520323	3	1	149	1	0	0	0	0	1	0	0	0	12600	1294	45	2	2360	2	PRKD3	2	37520323	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	828629	37520323	205679050	16	27532											
NRXN1	9378	broad.mit.edu	37	chr2	50149151	50149151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcactgctgggttgtttCtcctttacaacagccccatt	6	15	7	13	1	1	0	0	0	1	0	3	0	1	0	3	1	4	4	3	1	2	6			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:50149151C>A	ENST00000404971.1	-	24	5914	c.4575G>T	c.(4573-4575)gaG>gaT	p.E1525D	NRXN1_ENST00000401710.1_Missense_Mutation_p.E473D|NRXN1_ENST00000402717.3_Missense_Mutation_p.E1477D|NRXN1_ENST00000401669.2_Missense_Mutation_p.E1485D|NRXN1_ENST00000342183.5_Missense_Mutation_p.E420D|NRXN1_ENST00000405472.3_Missense_Mutation_p.E1477D|NRXN1_ENST00000406316.2_Missense_Mutation_p.E1455D|NRXN1_ENST00000406859.3_Missense_Mutation_p.E1455D	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1455					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGGTTGTTTCTCCTTTACAA	0.413													33	47					8.16721e-17	9.90221e-17	1	0	A	50149151	C	A	50149151	3	1	149	1	0	0	0	0	1	0	0	0	10736	912	32	2	72	2	NRXN1	2	50149151	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	12628828	50149151	193050222	17	27533											
SPTBN1	6711	broad.mit.edu	37	chr2	54891603	54891603	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctagatggcagaaacggTggacacaagcgaaatggtca	14	6	12	9	2	1	2	1	0	0	2	2	4	2	3	1	4	2	1	1	4	4	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:54891603T>G	ENST00000356805.4	+	33	6715	c.6434T>G	c.(6433-6435)gTg>gGg	p.V2145G		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2145					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCAGAAACGGTGGACACAAGC	0.562													42	219					0	0	0	0	G	54891603	T	G	54891603	3	3	149	1	0	0	0	0	1	0	0	0	15209	1696	59	5	6760	5	SPTBN1	2	54891603	Missense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	4742452	54891603	188307770	18	27534											
DYSF	8291	broad.mit.edu	37	chr2	71780158	71780158	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtaccttaggaggcgCaagtactccctgtttgcggc	9	9	12	11	2	0	1	0	0	0	1	1	2	1	2	2	3	3	4	2	3	5	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:71780158C>G	ENST00000258104.3	+	20	2047	c.1770C>G	c.(1768-1770)cgC>cgG	p.R590R	DYSF_ENST00000413539.2_Silent_p.R621R|DYSF_ENST00000410020.3_Silent_p.R608R|DYSF_ENST00000410041.1_Silent_p.R608R|DYSF_ENST00000409744.1_Silent_p.R577R|DYSF_ENST00000409762.1_Silent_p.R607R|DYSF_ENST00000409651.1_Silent_p.R622R|DYSF_ENST00000409582.3_Silent_p.R607R|DYSF_ENST00000409366.1_Silent_p.R591R|DYSF_ENST00000394120.2_Silent_p.R591R|DYSF_ENST00000429174.2_Silent_p.R590R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	590						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTAGGAGGCGCAAGTACTCCC	0.567													3	55					0	0	0	0	G	71780158	C	G	71780158	2	3	149	1	0	0	0	0	0	0	0	1	4895	697	25	4		4	DYSF	2	71780158	Silent	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	16888555	71780158	171419215	19	27535											
C1QL2	165257	broad.mit.edu	37	chr2	119915824	119915824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagcagcggcacggCgatgagcagcccgagcgcca	9	2	15	15	5	0	1	0	1	0	0	0	3	0	1	2	2	7	5	2	2	0	0			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:119915824C>T	ENST00000272520.3	-	1	641	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	8						collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						AGCGGCACGGCGATGAGCAGC	0.741										HNSCC(49;0.14)			3	10					0	0	0	0	T	119915824	C	T	119915824	3	4	149	1	0	0	0	0	1	0	0	0	1978	768	27	1	849	1	C1QL2	2	119915824	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	48135666	119915824	123283549	20	27536											
ACMSD	130013	broad.mit.edu	37	chr2	135596266	135596266	+	Frame_Shift_Del	DEL	T	T	-																															tgtggagatgaaaattgacaTccatagtcatattctaccaa																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:135596266delT	ENST00000356140.5	+	1	150	c.14delT	c.(13-15)acfs	p.I5fs	ACMSD_ENST00000283054.4_5'UTR|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_5'UTR	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	5					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AAAATTGACATCCATAGTCAT	0.343													25	39	---	---	---	---					-	135596266	T	-	135596266	7	5	149	1	0	1	0	1	0	0	0	0	144	1435	50	0	16	0	ACMSD	2	135596266	Frame_Shift_Del	DEL	T	TCGA-CQ-6225-01A-11D-1912-08	15680442	135596266	107603107	21	27537											
LRP1B	53353	broad.mit.edu	37	chr2	141359174	141359174	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtacagtgtatcccaggcTctgtgataggcaagtccttc	9	11	10	11	0	1	1	0	1	1	0	4	1	3	1	2	2	1	4	2	2	4	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:141359174T>A	ENST00000389484.3	-	42	7805	c.6834A>T	c.(6832-6834)agA>agT	p.R2278S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2278					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATCCCAGGCTCTGTGATAGG	0.448										TSP Lung(27;0.18)			6	47					0	0	0	0	A	141359174	T	A	141359174	3	1	149	1	0	0	0	0	1	0	0	0	9019	1548	54	5	7165	5	LRP1B	2	141359174	Missense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	5762908	141359174	101840199	22	27538											
TNFAIP6	7130	broad.mit.edu	37	chr2	152226607	152226607	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcttcccaaatgagtacgaAgataaccaaatctgctactg	14	9	8	10	1	1	2	0	1	1	1	2	3	2	2	2	1	4	3	2	1	6	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:152226607A>T	ENST00000243347.3	+	4	543	c.468A>T	c.(466-468)gaA>gaT	p.E156D		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	156	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		ATGAGTACGAAGATAACCAAA	0.398													64	69					0	0	0	0	T	152226607	A	T	152226607	3	4	149	1	0	0	0	0	1	0	0	0	16369	69	3	5	482	5	TNFAIP6	2	152226607	Missense_Mutation	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	10867433	152226607	90972766	23	27539											
GALNT5	11227	broad.mit.edu	37	chr2	158162305	158162305	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcatttccattgaaaacacTacagtcattctggaagactg	13	12	7	9	0	2	2	1	1	1	1	3	3	3	3	1	1	3	1	1	1	4	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:158162305T>C	ENST00000259056.4	+	8	2969	c.2484T>C	c.(2482-2484)acT>acC	p.T828T		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	828	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TTGAAAACACTACAGTCATTC	0.358													6	46					0	0	0	0	C	158162305	T	C	158162305	2	2	149	1	0	0	0	0	0	0	0	1	6265	1509	53	5		5	GALNT5	2	158162305	Silent	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	5935698	158162305	85037068	24	27540											
MARCH7	64844	broad.mit.edu	37	chr2	160619499	160619499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgaaccaagcacacgtGtccgagtaagtaataatgaa	18	7	8	8	2	0	2	0	2	0	0	1	3	1	2	2	0	2	3	2	0	7	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:160619499G>A	ENST00000259050.3	+	8	2124	c.2002G>A	c.(2002-2004)Gtc>Atc	p.V668I	MARCH7_ENST00000409175.1_Missense_Mutation_p.V668I|MARCH7_ENST00000539065.1_Missense_Mutation_p.V612I|MARCH7_ENST00000409591.1_Missense_Mutation_p.V630I	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	668							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AAGCACACGTGTCCGAGTAAG	0.413													5	41					0	0	0	0	A	160619499	G	A	160619499	3	1	149	1	0	0	0	0	1	0	0	0	9375	1377	48	4	2028	4	MARCH7	2	160619499	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	2457194	160619499	82579874	25	27541											
SLC4A10	57282	broad.mit.edu	37	chr2	162661031	162661031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgacgtcacaggcatcGtggtcataaacacagaaaga	15	6	9	11	3	2	2	2	0	0	2	4	3	2	2	1	2	1	1	1	2	3	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:162661031G>A	ENST00000375514.5	+	4	523	c.236G>A	c.(235-237)cGt>cAt	p.R79H	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R68H|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R68H|SLC4A10_ENST00000446997.1_Missense_Mutation_p.R68H|SLC4A10_ENST00000535165.1_Missense_Mutation_p.R68H|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R68H	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	68					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.R68H(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CACAGGCATCGTGGTCATAAA	0.418													22	21					0	0	0	0	A	162661031	G	A	162661031	3	1	149	1	0	0	0	0	1	0	0	0	14739	1145	40	1	298	1	SLC4A10	2	162661031	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	2041532	162661031	80538342	26	27542											
KCNH7	90134	broad.mit.edu	37	chr2	163280005	163280005	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccgagtatagtctttggatAattgcagatacattcccaaa	13	12	7	9	1	1	1	0	0	1	1	2	3	2	2	2	1	2	2	2	1	5	7			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:163280005A>T	ENST00000332142.5	-	9	2094	c.1995T>A	c.(1993-1995)atT>atA	p.I665I	KCNH7_ENST00000328032.4_Silent_p.I658I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	665					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GTCTTTGGATAATTGCAGATA	0.418													51	57					0	0	0	0	T	163280005	A	T	163280005	2	4	149	1	0	0	0	0	0	0	0	1	8090	358	13	5		5	KCNH7	2	163280005	Silent	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	618974	163280005	79919368	27	27543											
SCN3A	6328	broad.mit.edu	37	chr2	166020350	166020350	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcagagctctcaagactCtgaaagttcgaagggctgaa	12	11	10	8	1	3	4	2	2	2	2	5	5	3	4	0	1	1	3	0	1	4	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:166020350C>G	ENST00000360093.3	-	7	1147	c.656G>C	c.(655-657)aGa>aCa	p.R219T	SCN3A_ENST00000409101.3_Missense_Mutation_p.R219T|SCN3A_ENST00000283254.7_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	219						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCTCAAGACTCTGAAAGTTCG	0.373													11	34					0	0	0	0	G	166020350	C	G	166020350	3	3	149	1	0	0	0	0	1	0	0	0	14005	913	32	2	5530	2	SCN3A	2	166020350	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	2740345	166020350	77179023	28	27544											
TTN	7273	broad.mit.edu	37	chr2	179587427	179587427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaagaagcagttcctataCtattttctgctttgcatgtg	10	16	8	7	0	1	2	0	0	1	2	2	2	2	2	1	0	4	4	1	0	6	8			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:179587427C>G	ENST00000589042.1	-	76	22423	c.22199G>C	c.(22198-22200)aGt>aCt	p.S7400T	TTN_ENST00000342992.6_Missense_Mutation_p.S6156T|TTN_ENST00000591111.1_Missense_Mutation_p.S7083T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7083	Ig-like 56.						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)			AGTTCCTATACTATTTTCTGC	0.328													14	14					0	0	0	0	G	179587427	C	G	179587427	3	3	149	1	0	0	0	0	1	0	0	0	16831	565	20	4	82478	4	TTN	2	179587427	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	13567077	179587427	63611946	29	27545											
ZNF804A	91752	broad.mit.edu	37	chr2	185800683	185800683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccactgttgctgaagatcCagaaagtgcaaataattata	16	11	7	7	0	0	3	0	1	0	2	1	3	1	3	2	0	3	3	2	0	7	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:185800683C>A	ENST00000302277.6	+	4	1154	c.560C>A	c.(559-561)cCa>cAa	p.P187Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	187						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCTGAAGATCCAGAAAGTGCA	0.368													20	28					1.15919e-05	1.34282e-05	1	0	A	185800683	C	A	185800683	3	1	149	1	0	0	0	0	1	0	0	0	18263	594	21	4	574	4	ZNF804A	2	185800683	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	6213256	185800683	57398690	30	27546											
ZNF804A	91752	broad.mit.edu	37	chr2	185803540	185803540	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaatcccagctctcacCagaacctcattacctcagct	11	9	3	18	0	3	1	3	0	1	1	6	1	5	1	5	0	4	2	5	0	3	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:185803540C>G	ENST00000302277.6	+	4	4011	c.3417C>G	c.(3415-3417)acC>acG	p.T1139T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1139						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGCTCTCACCAGAACCTCAT	0.537													43	66					0	0	0	0	G	185803540	C	G	185803540	2	3	149	1	0	0	0	0	0	0	0	1	18263	581	21	4		4	ZNF804A	2	185803540	Silent	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	2857	185803540	57395833	31	27547											
PTH2R	5746	broad.mit.edu	37	chr2	209308082	209308082	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctccgtagacgattgcaTtgcactaggaactatatcca	11	12	7	11	2	1	1	0	0	1	1	4	3	3	2	2	1	3	3	2	1	5	6			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:209308082T>C	ENST00000272847.2	+	6	732	c.519T>C	c.(517-519)caT>caC	p.H173H	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	173						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GACGATTGCATTGCACTAGGA	0.423													19	6					0	0	0	0	C	209308082	T	C	209308082	2	2	149	1	0	0	0	0	0	0	0	1	12840	1490	52	5		5	PTH2R	2	209308082	Silent	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	23504542	209308082	33891291	32	27548											
TOMM70A	9868	broad.mit.edu	37	chr3	100093900	100093900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacatctgcattctgaggatCgatgtcagcagccatgttaa	12	11	9	9	1	3	1	1	1	2	0	4	3	3	2	1	1	4	3	1	1	2	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:100093900C>T	ENST00000284320.5	-	7	1637	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	397					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TTCTGAGGATCGATGTCAGCA	0.443													47	84					0	0	0	0	T	100093900	C	T	100093900	3	4	149	1	0	0	0	0	1	0	0	0	16457	884	31	1	661	1	TOMM70A	3	100093900	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08		100093900	97928530	33	27549											
LNP1	348801	broad.mit.edu	37	chr3	100170729	100170729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaagatcccattccaaaaTtgagaaattttcagagtcct	15	11	7	8	0	1	3	1	1	0	3	4	5	4	4	3	1	0	0	3	1	4	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:100170729T>C	ENST00000383693.3	+	3	1603	c.323T>C	c.(322-324)aTt>aCt	p.I108T	LNP1_ENST00000489752.1_Missense_Mutation_p.I121T	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	108										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						CATTCCAAAATTGAGAAATTT	0.428													82	39					0	0	0	0	C	100170729	T	C	100170729	3	2	149	1	0	0	0	0	1	0	0	0	8918	1493	52	5	329	5	LNP1	3	100170729	Missense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	76829	100170729	97851701	34	27550											
SUCNR1	56670	broad.mit.edu	37	chr3	151597696	151597696	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgacatgctggggatcatgGtatgtttagagacacaaaag	14	9	12	6	1	1	1	1	0	0	1	1	4	1	2	0	3	1	3	0	3	4	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:151597696G>A	ENST00000362032.4	+	2	120		c.e2+1		RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1							integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGGGATCATGGTATGTTTAGA	0.343													28	65					0	0	0	0	A	151597696	G	A	151597696	5	1	149	1	0	0	0	0	0	0	1	0	15456	1275	44	4	18	4	SUCNR1	3	151597696	Splice_Site	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	51426967	151597696	46424734	35	27551											
MFSD1	64747	broad.mit.edu	37	chr3	158539427	158539427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggattttcttcccaggcagCaagtgcaattaacaggtatt	11	13	9	8	0	1	0	0	0	1	0	2	1	2	1	1	3	3	4	1	3	4	6			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:158539427C>A	ENST00000415822.2	+	10	1193	c.1052C>A	c.(1051-1053)gCa>gAa	p.A351E	MFSD1_ENST00000392813.4_Missense_Mutation_p.A312E|MFSD1_ENST00000264266.8_Missense_Mutation_p.A302E	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	302					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCCCAGGCAGCAAGTGCAATT	0.294													12	129					1.5739e-10	1.87904e-10	1	0	A	158539427	C	A	158539427	3	1	149	1	0	0	0	0	1	0	0	0	9596	710	25	4	1090	4	MFSD1	3	158539427	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	6941731	158539427	39483003	36	27552											
NLGN1	22871	broad.mit.edu	37	chr3	173322668	173322668	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccccaccaacaggggaacgtCgttttcagcctccagaacca	11	6	8	16	2	1	1	1	0	0	1	3	2	2	2	6	2	4	1	6	2	3	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:173322668C>G	ENST00000457714.1	+	3	709	c.280C>G	c.(280-282)Cgt>Ggt	p.R94G	NLGN1_ENST00000545397.1_Missense_Mutation_p.R94G|NLGN1_ENST00000361589.4_Missense_Mutation_p.R94G|NLGN1_ENST00000401917.3_Missense_Mutation_p.R94G	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	94					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGGGGAACGTCGTTTTCAGCC	0.453													5	251					0	0	0	0	G	173322668	C	G	173322668	3	3	149	1	0	0	0	0	1	0	0	0	10531	884	31	3	282	3	NLGN1	3	173322668	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	14783241	173322668	24699762	37	27553											
KCNMB2	10242	broad.mit.edu	37	chr3	178546115	178546115	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgacttcttccggggaaaAgctcctcctctaccacacag	9	9	7	16	1	2	1	0	1	2	0	5	2	5	2	5	2	2	1	5	2	3	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:178546115A>G	ENST00000432997.1	+	4	729	c.377A>G	c.(376-378)aAg>aGg	p.K126R	KCNMB2_ENST00000452583.1_Missense_Mutation_p.K126R|KCNMB2_ENST00000420517.2_Missense_Mutation_p.K126R|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.K126R|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	126					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TCCGGGGAAAAGCTCCTCCTC	0.478													22	41					0	0	0	0	G	178546115	A	G	178546115	3	3	149	1	0	0	0	0	1	0	0	0	8128	72	3	5	387	5	KCNMB2	3	178546115	Missense_Mutation	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	5223447	178546115	19476315	38	27554											
PEX5L	51555	broad.mit.edu	37	chr3	179615940	179615940	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcccacctgtgatgtcAtagtaaggaggggcttttct	7	13	12	9	0	3	1	1	1	2	0	3	2	3	2	2	3	1	2	2	3	2	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:179615940A>C	ENST00000467460.1	-	3	518	c.188T>G	c.(187-189)aTg>aGg	p.M63R	PEX5L_ENST00000392649.3_Missense_Mutation_p.M20R|PEX5L_ENST00000263962.8_Missense_Mutation_p.M61R|PEX5L_ENST00000485199.1_Intron|PEX5L_ENST00000476138.1_Missense_Mutation_p.M20R|PEX5L_ENST00000472994.1_Intron|PEX5L_ENST00000468741.1_Intron|PEX5L_ENST00000465751.1_Missense_Mutation_p.M39R|PEX5L_ENST00000464614.1_Missense_Mutation_p.M20R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	63					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTGTGATGTCATAGTAAGGAG	0.428													9	123					0	0	0	0	C	179615940	A	C	179615940	3	2	149	1	0	0	0	0	1	0	0	0	11821	217	8	5	1744	5	PEX5L	3	179615940	Missense_Mutation	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	1069825	179615940	18406490	39	27555											
HTR3D	200909	broad.mit.edu	37	chr3	183756634	183756634	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcccagcgggaacacgaGgcccagaagcagcactcggt	11	2	15	13	3	0	1	0	0	0	1	1	3	0	2	2	4	4	2	2	4	2	0			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:183756634G>C	ENST00000382489.3	+	8	1236	c.1236G>C	c.(1234-1236)gaG>gaC	p.E412D	HTR3D_ENST00000453435.1_Missense_Mutation_p.E191D|HTR3D_ENST00000334128.2_Missense_Mutation_p.E237D|HTR3D_ENST00000428798.2_Missense_Mutation_p.E362D	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	412						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGGAACACGAGGCCCAGAAGC	0.637													42	115					0	0	0	0	C	183756634	G	C	183756634	3	2	149	1	0	0	0	0	1	0	0	0	7500	991	35	4	1436	4	HTR3D	3	183756634	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	4140694	183756634	14265796	40	27556											
HRG	3273	broad.mit.edu	37	chr3	186386805	186386805	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaatactggaatgacTgtgagccacctgattccaga	13	8	10	10	0	0	4	0	3	0	1	1	6	1	6	4	2	2	0	4	2	3	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:186386805T>C	ENST00000232003.4	+	2	345	c.265T>C	c.(265-267)Tgt>Cgt	p.C89R		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	89	Cystatin 1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTGGAATGACTGTGAGCCACC	0.413													4	137					0	0	0	0	C	186386805	T	C	186386805	3	2	149	1	0	0	0	0	1	0	0	0	7404	1580	55	5	271	5	HRG	3	186386805	Missense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	2630171	186386805	11635625	41	27557											
RFC1	5981	broad.mit.edu	37	chr4	39290414	39290414	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttttccttttccttttctGggctccttatctttttctgg	1	24	5	11	0	3	0	0	0	3	0	6	0	6	0	3	2	0	1	3	2	1	9			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:39290414G>A	ENST00000381897.1	-	25	3547	c.3414C>T	c.(3412-3414)ccC>ccT	p.P1138P	RFC1_ENST00000349703.2_Silent_p.P1137P	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1138					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTCCTTTTCTGGGCTCCTTAT	0.378													26	12					0	0	0	0	A	39290414	G	A	39290414	2	1	149	1	0	0	0	0	0	0	0	1	13326	1335	47	4		4	RFC1	4	39290414	Silent	SNP	G	TCGA-CQ-6225-01A-11D-1912-08		39290414	151863862	42	27558											
ATP8A1	10396	broad.mit.edu	37	chr4	42524198	42524198	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcaatcaactcataactCtcttcgagtttgagtagcct	10	16	5	10	1	4	1	3	1	1	0	6	2	4	1	1	0	3	2	1	0	4	6			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:42524198C>G	ENST00000381668.5	-	22	2157	c.1926G>C	c.(1924-1926)gaG>gaC	p.E642D	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E627D	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	642					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ACTCATAACTCTCTTCGAGTT	0.433													87	13					0	0	0	0	G	42524198	C	G	42524198	3	3	149	1	0	0	0	0	1	0	0	0	1196	912	32	2	1632	2	ATP8A1	4	42524198	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	3233784	42524198	148630078	43	27559											
NFXL1	152518	broad.mit.edu	37	chr4	47853112	47853112	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtattttgtttggttacCtgttgtcttcgtttttcttc	2	24	9	6	1	2	0	0	0	2	0	4	0	2	0	1	2	1	5	1	2	2	10			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:47853112C>A	ENST00000507489.1	-	22	2738	c.2562_splice	c.e22+1	p.Q854_splice	NFXL1_ENST00000381538.3_Splice_Site_p.Q854_splice	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	854						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GTTTGGTTACCTGTTGTCTTC	0.353													8	21					0.000978159	0.00111653	1	0	A	47853112	C	A	47853112	5	1	149	1	0	0	0	0	0	0	1	0	10458	695	24	4	181	4	NFXL1	4	47853112	Splice_Site	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	5328914	47853112	143301164	44	27560											
POLR2B	5431	broad.mit.edu	37	chr4	57852522	57852522	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatttttgtttttacagatAtgcaatatgatgaggatgat	13	18	8	2	0	0	4	0	3	0	1	0	5	0	5	0	1	2	2	0	1	5	8			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:57852522A>G	ENST00000381227.1	+	3	435	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	POLR2B_ENST00000431623.2_5'UTR|POLR2B_ENST00000314595.5_Missense_Mutation_p.M8V|POLR2B_ENST00000441246.2_Start_Codon_SNP_p.M1V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	8					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTTTACAGATATGCAATATGA	0.358													38	23					0	0	0	0	G	57852522	A	G	57852522	3	3	149	1	0	0	0	0	1	0	0	0	12287	449	16	5	28	5	POLR2B	4	57852522	Missense_Mutation	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	9999410	57852522	133301754	45	27561											
TECRL	253017	broad.mit.edu	37	chr4	65175550	65175550	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagcatcctcaccattatCaaatttttcaaaggtgtgtg	13	13	6	9	0	3	0	3	0	0	0	4	0	4	0	2	1	1	1	2	1	4	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:65175550C>T	ENST00000381210.3	-	6	761	c.651G>A	c.(649-651)ttG>ttA	p.L217L	TECRL_ENST00000507440.1_Silent_p.L217L|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	217					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCACCATTATCAAATTTTTCA	0.338													18	56					0	0	0	0	T	65175550	C	T	65175550	2	4	149	1	0	0	0	0	0	0	0	1	15840	825	29	2		2	TECRL	4	65175550	Silent	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	7323028	65175550	125978726	46	27562											
MRPL1	65008	broad.mit.edu	37	chr4	78792958	78792958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatcagacatcactttgttCttgttctgtaaacatccgag	10	16	6	9	1	4	1	2	0	2	1	5	2	5	1	1	0	1	3	1	0	3	6			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:78792958C>T	ENST00000315567.8	+	2	421	c.92C>T	c.(91-93)tCt>tTt	p.S31F		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	31							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TCACTTTGTTCTTGTTCTGTA	0.299													4	36					0	0	0	0	T	78792958	C	T	78792958	3	4	149	1	0	0	0	0	1	0	0	0	9844	913	32	2	98	2	MRPL1	4	78792958	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	13617408	78792958	112361318	47	27563											
WDFY3	23001	broad.mit.edu	37	chr4	85716037	85716037	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaaatattacttaccagaaCcaatgccactgaccacagcc	15	7	5	14	0	0	2	0	1	0	1	0	2	0	2	5	0	5	1	5	0	6	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:85716037C>A	ENST00000322366.6	-	20	3670	c.3263G>T	c.(3262-3264)gGt>gTt	p.G1088V	WDFY3_ENST00000295888.4_Missense_Mutation_p.G1088V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1088						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTACCAGAACCAATGCCACT	0.338													21	19					7.45023e-12	8.94027e-12	1	0	A	85716037	C	A	85716037	3	1	149	1	0	0	0	0	1	0	0	0	17366	507	18	4	7513	4	WDFY3	4	85716037	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	6923079	85716037	105438239	48	27564											
C5orf38	153571	broad.mit.edu	37	chr5	2752514	2752514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcctacccctcgcggtcCactccgcccagcatggacct	5	7	9	20	4	0	0	0	0	0	0	4	1	2	1	7	2	2	1	7	2	1	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:2752514C>T	ENST00000515640.1	+	1	155	c.136C>T	c.(136-138)Cac>Tac	p.H46Y	C5orf38_ENST00000334000.3_Missense_Mutation_p.H46Y|C5orf38_ENST00000397835.4_Missense_Mutation_p.H46Y|C5orf38_ENST00000457752.2_Missense_Mutation_p.H46Y|C5orf38_ENST00000505778.1_Missense_Mutation_p.H46Y|IRX2_ENST00000502957.1_Intron			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	46						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		CCTCGCGGTCCACTCCGCCCA	0.701													9	4					0	0	0	0	T	2752514	C	T	2752514	3	4	149	1	0	0	0	0	1	0	0	0	2317	594	21	4	138	4	C5orf38	5	2752514	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08		2752514	178162746	49	27565											
PRDM9	56979	broad.mit.edu	37	chr5	23526667	23526667	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggagctgtagagtgggAaaaagaataatggaagaaga	18	6	16	1	0	0	4	0	0	0	4	0	7	0	7	0	4	1	2	0	4	7	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:23526667A>T	ENST00000296682.3	+	11	1652	c.1470A>T	c.(1468-1470)ggA>ggT	p.G490G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	490					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTAGAGTGGGAAAAAGAATAA	0.443										HNSCC(3;0.000094)			12	11					0	0	0	0	T	23526667	A	T	23526667	2	4	149	1	0	0	0	0	0	0	0	1	12543	233	9	5		5	PRDM9	5	23526667	Silent	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	20774153	23526667	157388593	50	27566											
CDH10	1008	broad.mit.edu	37	chr5	24488021	24488021	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatcccggacgtccgtgttAtctggagctgtaggagtcct	8	11	12	10	3	1	0	0	0	1	0	4	3	4	3	3	3	1	3	3	3	3	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:24488021A>T	ENST00000264463.4	-	12	2625	c.2118T>A	c.(2116-2118)gaT>gaA	p.D706E	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	706					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CGTCCGTGTTATCTGGAGCTG	0.488										HNSCC(23;0.051)			49	46					0	0	0	0	T	24488021	A	T	24488021	3	4	149	1	0	0	0	0	1	0	0	0	3125	446	16	5	252	5	CDH10	5	24488021	Missense_Mutation	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	961354	24488021	156427239	51	27567											
FYB	2533	broad.mit.edu	37	chr5	39127888	39127888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccatcataaatgtcatcaTctggtggtggagggaatatc	11	12	10	8	0	4	0	3	0	1	0	6	2	5	2	1	4	0	0	1	4	4	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:39127888T>C	ENST00000351578.6	-	11	2052	c.1862A>G	c.(1861-1863)gAt>gGt	p.D621G	FYB_ENST00000512982.1_Missense_Mutation_p.D621G|FYB_ENST00000540520.1_Missense_Mutation_p.D631G|FYB_ENST00000515010.1_Missense_Mutation_p.D621G|FYB_ENST00000505428.1_Missense_Mutation_p.D621G	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	621					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AATGTCATCATCTGGTGGTGG	0.323													13	18					0	0	0	0	C	39127888	T	C	39127888	3	2	149	1	0	0	0	0	1	0	0	0	6172	1435	50	5	663	5	FYB	5	39127888	Missense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	14639867	39127888	141787372	52	27568											
CHSY3	337876	broad.mit.edu	37	chr5	129520027	129520027	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taacacttcatcccaacaaaAggcctgcataccaatacagg	16	7	5	13	0	1	0	1	0	0	0	2	0	2	0	3	2	5	1	3	2	7	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:129520027A>G	ENST00000305031.4	+	3	1550	c.1192A>G	c.(1192-1194)Agg>Ggg	p.R398G	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	398						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TCCCAACAAAAGGCCTGCATA	0.448													3	56					0	0	0	0	G	129520027	A	G	129520027	3	3	149	1	0	0	0	0	1	0	0	0	3442	63	3	5	1202	5	CHSY3	5	129520027	Missense_Mutation	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	90392139	129520027	51395233	53	27569											
PCDHA7	56141	broad.mit.edu	37	chr5	140215088	140215088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcatcacattgattagcGtgtttgaccgagattttgga	9	14	10	8	3	2	3	2	2	0	1	2	5	2	4	2	1	1	1	2	1	1	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:140215088G>A	ENST00000525929.1	+	1	1120	c.1120G>A	c.(1120-1122)Gtg>Atg	p.V374M	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.V374M	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGATTAGCGTGTTTGACCG	0.493													87	20					0	0	0	0	A	140215088	G	A	140215088	3	1	149	1	0	0	0	0	1	0	0	0	11600	1145	40	1	1122	1	PCDHA7	5	140215088	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	10695061	140215088	40700172	54	27570											
PCDHA13	56136	broad.mit.edu	37	chr5	140264051	140264051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccgagggcgcgtgcgCgccgggcaagcccactctag	6	3	15	17	6	1	0	0	0	1	0	1	1	1	0	4	2	2	1	4	2	2	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:140264051C>T	ENST00000289272.2	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A733V|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.A733V(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCGTGCGCGCCGGGCAAG	0.672													57	9					0	0	0	0	T	140264051	C	T	140264051	3	4	149	1	0	0	0	0	1	0	0	0	11594	768	27	1	2200	1	PCDHA13	5	140264051	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	48963	140264051	40651209	55	27571											
PCDHGA1	56114	broad.mit.edu	37	chr5	140710805	140710805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccctggatgtgcaacaggGagccgatgggcctcaacatc	9	7	12	13	1	1	0	1	0	0	0	3	3	2	2	3	3	4	1	3	3	2	0			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:140710805G>T	ENST00000517417.1	+	1	554	c.554G>T	c.(553-555)gGa>gTa	p.G185V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G185V	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCAACAGGGAGCCGATGGG	0.527													60	9					1.1362e-29	1.44495e-29	1	0	T	140710805	G	T	140710805	3	4	149	1	0	0	0	0	1	0	0	0	11621	1174	41	2	556	2	PCDHGA1	5	140710805	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	446754	140710805	40204455	56	27572											
ABLIM3	22885	broad.mit.edu	37	chr5	148626086	148626086	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtctggaggagaggaggatGattttgaccgcagcatgcac	10	8	15	8	2	1	3	0	2	1	1	1	7	1	6	1	4	2	3	1	4	0	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:148626086G>C	ENST00000506113.1	+	16	2010	c.1528G>C	c.(1528-1530)Gat>Cat	p.D510H	ABLIM3_ENST00000326685.7_Missense_Mutation_p.D415H|ABLIM3_ENST00000309868.7_Missense_Mutation_p.D510H|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.D399H|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.D399H|ABLIM3_ENST00000508983.1_Missense_Mutation_p.D477H|ABLIM3_ENST00000517451.1_5'UTR			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	510					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGGATGATTTTGACCG	0.502													20	3					0	0	0	0	C	148626086	G	C	148626086	3	2	149	1	0	0	0	0	1	0	0	0	96	1290	45	2	1590	2	ABLIM3	5	148626086	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	7915281	148626086	32289174	57	27573											
RANBP17	64901	broad.mit.edu	37	chr5	170395247	170395247	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattttcccttcatgaagaGtttttcagcttatatcttta	9	21	4	7	0	3	2	2	1	1	1	4	2	4	2	1	0	1	2	1	0	5	10			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:170395247G>A	ENST00000523189.1	+	14	1740	c.1574_splice	c.e14-1	p.V526_splice		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	526					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCATGAAGAGTTTTTCAGCT	0.308			T	TRD@	ALL								24	9					0	0	0	0	A	170395247	G	A	170395247	5	1	149	1	0	0	0	0	0	0	1	0	13109	1043	36	4	1630	4	RANBP17	5	170395247	Splice_Site	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	21769161	170395247	10520013	58	27574											
STK10	6793	broad.mit.edu	37	chr5	171583735	171583735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagtcctccagctcctcctCactcttggtttcaatgactt	6	15	6	14	0	3	1	2	1	1	0	7	1	7	1	4	1	1	3	4	1	2	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:171583735C>T	ENST00000176763.5	-	2	557	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	72	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCTCCTCCTCACTCTTGGTT	0.547													54	16					0	0	0	0	T	171583735	C	T	171583735	3	4	149	1	0	0	0	0	1	0	0	0	15376	835	29	2	2764	2	STK10	5	171583735	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	1188488	171583735	9331525	59	27575											
RMND5B	64777	broad.mit.edu	37	chr5	177574774	177574774	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctggtaccactccgtgttCgcttgccccatcctccgcca	4	11	8	18	3	0	0	0	0	0	0	4	0	3	0	7	1	3	4	7	1	1	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:177574774C>T	ENST00000515098.1	+	11	1359	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	RMND5B_ENST00000542098.1_Silent_p.F323F|RMND5B_ENST00000313386.4_Silent_p.F336F			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	336										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCCGTGTTCGCTTGCCCCA	0.542													75	17					0	0	0	0	T	177574774	C	T	177574774	2	4	149	1	0	0	0	0	0	0	0	1	13483	883	31	1		1	RMND5B	5	177574774	Silent	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	5991039	177574774	3340486	60	27576											
ADAMTS2	9509	broad.mit.edu	37	chr5	178552137	178552137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcacctgcatgcctgtcCgcccacaggtctggctacat	7	8	10	16	2	1	0	0	0	1	0	2	0	2	0	4	2	4	3	4	2	1	1	rs140022033	byFrequency	TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:178552137C>T	ENST00000251582.7	-	19	2896	c.2795G>A	c.(2794-2796)cGg>cAg	p.R932Q		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	932	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CATGCCTGTCCGCCCACAGGT	0.667													25	54					0	0	0	0	T	178552137	C	T	178552137	3	4	149	1	0	0	0	0	1	0	0	0	265	652	23	1	856	1	ADAMTS2	5	178552137	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	977363	178552137	2363123	61	27577											
RNF182	221687	broad.mit.edu	37	chr6	13977531	13977531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggactccccacaaggtGtcattgtctgtcctttctgc	5	14	10	12	0	3	0	1	0	2	0	5	1	5	1	3	3	1	0	3	3	1	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:13977531G>T	ENST00000488300.1	+	3	704	c.181G>T	c.(181-183)Gtc>Ttc	p.V61F	RNF182_ENST00000544682.1_Missense_Mutation_p.V61F|RNF182_ENST00000537388.1_Missense_Mutation_p.V61F|RNF182_ENST00000537663.1_Missense_Mutation_p.V61F	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	61						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CCCACAAGGTGTCATTGTCTG	0.473													8	116					0.00621372	0.00699043	1	0	T	13977531	G	T	13977531	3	4	149	1	0	0	0	0	1	0	0	0	13551	1377	48	4	183	4	RNF182	6	13977531	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08		13977531	157137536	62	27578											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045748	26045748	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccggccaccggtggcgtgaAgaaacctcatcgctaccgcc	8	6	11	16	5	1	2	1	1	0	1	3	2	2	2	6	3	2	1	6	3	3	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:26045748A>T	ENST00000540144.1	+	1	110	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGTGGCGTGAAGAAACCTCAT	0.632													21	40					0	0	0	0	T	26045748	A	T	26045748	3	4	149	1	0	0	0	0	1	0	0	0	7207	72	3	5	112	5	HIST1H3C	6	26045748	Missense_Mutation	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	12068217	26045748	145069319	63	27579											
HIST1H4G	8369	broad.mit.edu	37	chr6	26246938	26246938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccctggcgtttgagcaCgtagaccacggccatggcgg	6	9	13	13	4	1	2	0	1	1	1	2	2	2	2	3	4	1	3	3	4	1	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:26246938C>T	ENST00000244537.4	-	1	321	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	90					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGTTTGAGCACGTAGACCACG	0.572													12	44					0	0	0	0	T	26246938	C	T	26246938	3	4	149	1	0	0	0	0	1	0	0	0	7221	536	19	1	32	1	HIST1H4G	6	26246938	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	201190	26246938	144868129	64	27580											
OR2B6	26212	broad.mit.edu	37	chr6	27925114	27925114	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactccttgtggtcttcttGatttcttacactgtgaccat	6	17	6	12	0	3	2	0	2	3	0	4	2	4	2	3	1	1	0	3	1	1	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:27925114G>C	ENST00000244623.1	+	1	96	c.96G>C	c.(94-96)ttG>ttC	p.L32F		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGTCTTCTTGATTTCTTACA	0.418													9	88					0	0	0	0	C	27925114	G	C	27925114	3	2	149	1	0	0	0	0	1	0	0	0	11062	1281	45	2	98	2	OR2B6	6	27925114	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	1678176	27925114	143189953	65	27581											
HSD17B8	7923	broad.mit.edu	37	chr6	33173441	33173442	+	Frame_Shift_Del	DEL	TA	TA	-																															ggaacgtggggcagacaaacTatgcagcatccaaggctgga																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:33173441_33173442delTA	ENST00000374662.3	+	5	532_533	c.505_506delTA	c.(505-507)tfs	p.Y169fs	HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	169					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9					NADH(DB00157)	GCAGACAAACTATGCAGCATCC	0.589													12	41	---	---	---	---					-	33173442	TA	-	33173441	7	5	149	1	0	1	0	1	0	0	0	0	7439	1522	53	0	523	0	HSD17B8	6	33173441	Frame_Shift_Del	DEL	TA	TCGA-CQ-6225-01A-11D-1912-08	5248327	33173441	137941626	66	27582											
DNAH8	1769	broad.mit.edu	37	chr6	38899605	38899605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtgaaagtcggtgataagGaatgtgatatcatggataca	15	10	13	3	1	1	3	1	3	0	0	2	5	1	5	0	4	1	0	0	4	5	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:38899605G>A	ENST00000359357.3	+	74	10896	c.10642G>A	c.(10642-10644)Gaa>Aaa	p.E3548K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E3512K|RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3765K|RP1-207H1.3_ENST00000416948.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGGTGATAAGGAATGTGATAT	0.333													37	107					0	0	0	0	A	38899605	G	A	38899605	3	1	149	1	0	0	0	0	1	0	0	0	4643	1175	41	2	10928	2	DNAH8	6	38899605	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	5726164	38899605	132215462	67	27583											
SLC35B2	347734	broad.mit.edu	37	chr6	44222449	44222451	+	In_Frame_Del	DEL	CTT	CTT	-																															ggccctttccaccctcaaacCttctgcacaggagactcaac																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:44222449_44222451delCTT	ENST00000393812.3	-	4	1434_1436	c.1291_1293delAAG	c.(1291-1293)del	p.K431del	SLC35B2_ENST00000538577.1_In_Frame_Del_p.K338del|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000537814.1_In_Frame_Del_p.K298del	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	431					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCCTCAAACCTTCTGCACAGGA	0.576													77	64	---	---	---	---					-	44222451	CTT	-	44222449	7	5	149	1	0	1	0	1	0	0	0	0	14664	680	24	0	9	0	SLC35B2	6	44222449	In_Frame_Del	DEL	CTT	TCGA-CQ-6225-01A-11D-1912-08	5322844	44222449	126892618	68	27584											
TDRD6	221400	broad.mit.edu	37	chr6	46658979	46658979	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccttgaaccctggaacCttgtgccttgccaagtatac	8	12	7	14	0	1	1	0	1	1	0	2	2	1	2	5	1	5	1	5	1	5	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:46658979C>T	ENST00000544460.1	+	1	3368	c.3114C>T	c.(3112-3114)acC>acT	p.T1038T	TDRD6_ENST00000316081.6_Silent_p.T1038T	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1038	Tudor 5.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ACCCTGGAACCTTGTGCCTTG	0.348													5	63					0	0	0	0	T	46658979	C	T	46658979	2	4	149	1	0	0	0	0	0	0	0	1	15828	668	24	4		4	TDRD6	6	46658979	Silent	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	2436530	46658979	124456088	69	27585											
GPR6	2830	broad.mit.edu	37	chr6	110301053	110301053	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgctgcacctgtacgtGcgcatctgccaggtggtctg	6	11	12	12	2	3	0	1	0	2	0	3	0	3	0	2	2	5	4	2	2	1	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:110301053G>A	ENST00000414000.2	+	3	1022	c.783G>A	c.(781-783)gtG>gtA	p.V261V	GPR6_ENST00000275169.3_Silent_p.V246V			P46095	GPR6_HUMAN	G protein-coupled receptor 6	246						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ACCTGTACGTGCGCATCTGCC	0.687													17	12					0	0	0	0	A	110301053	G	A	110301053	2	1	149	1	0	0	0	0	0	0	0	1	6750	1306	46	4		4	GPR6	6	110301053	Silent	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	63642074	110301053	60814014	70	27586											
COL10A1	1300	broad.mit.edu	37	chr6	116443007	116443007	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaaccctggctctcctTggagtccaggacttccgtag	6	10	11	14	1	1	0	0	0	1	0	4	2	3	2	4	4	1	3	4	4	2	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:116443007T>G	ENST00000327673.4	-	2	679	c.272A>C	c.(271-273)cAa>cCa	p.Q91P	COL10A1_ENST00000243222.4_Missense_Mutation_p.Q91P|NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Missense_Mutation_p.W130G			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	91	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TGGCTCTCCTTGGAGTCCAGG	0.607													8	66					0	0	0	0	G	116443007	T	G	116443007	3	3	149	1	0	0	0	0	1	0	0	0	3696	1812	63	5	1774	5	COL10A1	6	116443007	Missense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	6141954	116443007	54672060	71	27587											
FAM184A	79632	broad.mit.edu	37	chr6	119295637	119295637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgagtagctcgttagtCttattaaaatctgcccgcat	9	15	7	10	2	2	1	0	1	2	0	4	1	3	1	2	0	2	4	2	0	5	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:119295637C>A	ENST00000338891.7	-	14	3314	c.2871G>T	c.(2869-2871)aaG>aaT	p.K957N	FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Intron|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	957										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTCGTTAGTCTTATTAAAAT	0.348													47	132					1.07234e-20	1.33473e-20	1	0	A	119295637	C	A	119295637	3	1	149	1	0	0	0	0	1	0	0	0	5553	912	32	2	571	2	FAM184A	6	119295637	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	2852630	119295637	51819430	72	27588											
GRM1	2911	broad.mit.edu	37	chr6	146755396	146755396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagggcttgccccctcctCtccagcagcagcagcaaccc	8	5	8	20	0	1	0	0	0	1	0	3	0	2	0	6	1	6	5	6	1	2	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:146755396C>T	ENST00000361719.2	+	9	3519	c.3049C>T	c.(3049-3051)Ctc>Ttc	p.L1017F	GRM1_ENST00000282753.1_Missense_Mutation_p.L1017F|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1017	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCCCCCTCCTCTCCAGCAGCA	0.652													36	64					0	0	0	0	T	146755396	C	T	146755396	3	4	149	1	0	0	0	0	1	0	0	0	6846	913	32	2	3144	2	GRM1	6	146755396	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	27459759	146755396	24359671	73	27589											
DAGLB	221955	broad.mit.edu	37	chr7	6452649	6452649	+	Frame_Shift_Del	DEL	A	A	-																															cacgatgaagctctgagaatAttcctgcagagctttgctga																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:6452649delA	ENST00000297056.6	-	12	1613	c.1444delT	c.(1444-1446)atfs	p.Y482fs	DAGLB_ENST00000425398.2_Frame_Shift_Del_p.Y353fs|DAGLB_ENST00000428902.2_Frame_Shift_Del_p.I341fs|DAGLB_ENST00000436575.1_Frame_Shift_Del_p.Y441fs|DAGLB_ENST00000421761.2_3'UTR	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	482					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CTCTGAGAATATTCCTGCAGA	0.517													23	21	---	---	---	---					-	6452649	A	-	6452649	7	5	149	1	0	1	0	1	0	0	0	0	4260	449	16	0	590	0	DAGLB	7	6452649	Frame_Shift_Del	DEL	A	TCGA-CQ-6225-01A-11D-1912-08		6452649	152686014	74	27590											
PDE1C	5137	broad.mit.edu	37	chr7	31917639	31917639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaccatgtttgatgtccGtctatacattctgaaaagcc	11	13	6	11	1	2	2	0	2	2	0	4	2	4	2	4	0	3	1	4	0	5	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:31917639G>A	ENST00000396184.3	-	6	640	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	PDE1C_ENST00000396182.2_Missense_Mutation_p.R146W|PDE1C_ENST00000396193.1_Missense_Mutation_p.R206W|PDE1C_ENST00000396191.1_Missense_Mutation_p.R146W|PDE1C_ENST00000321453.7_Missense_Mutation_p.R146W	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	146					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTTGATGTCCGTCTATACATT	0.343													8	35					0	0	0	0	A	31917639	G	A	31917639	3	1	149	1	0	0	0	0	1	0	0	0	11706	1144	40	1	1520	1	PDE1C	7	31917639	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	25464990	31917639	127221024	75	27591											
EIF4H	7458	broad.mit.edu	37	chr7	73604163	73604171	+	In_Frame_Del	DEL	TCGGTCACT	TCGGTCACT	-																															tatcattagctgttgggcgaTcggtcacttcgtgtggacat																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:73604163_73604171delTCGGTCACT	ENST00000265753.8	+	4	463_471	c.324_332delTCGGTCACT	c.(322-333)gat>ga	p.DRSL108del	EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_In_Frame_Del_p.DRSL108del	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	108	RRM.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						TGTTGGGCGATCGGTCACTTCGTGTGGAC	0.426													28	60	---	---	---	---					-	73604171	TCGGTCACT	-	73604163	7	5	149	1	0	1	0	1	0	0	0	0	5077	1432	50	0	338	0	EIF4H	7	73604163	In_Frame_Del	DEL	TCGGTCACT	TCGA-CQ-6225-01A-11D-1912-08	41686524	73604163	85534500	76	27592											
STEAP4	79689	broad.mit.edu	37	chr7	87908901	87908907	+	Frame_Shift_Del	DEL	TGTGGGC	TGTGGGC	-																															cttcccaccgtacaccagggTgtgggctgtacacaagatca																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:87908901_87908907delTGTGGGC	ENST00000380079.4	-	5	1287_1293	c.1186_1192delGCCCACA	c.(1186-1194)ccfs	p.AHT396fs	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Frame_Shift_Del_p.AHT220fs|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	396					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.A396A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TACACCAGGGTGTGGGCTGTACACAAG	0.411													9	44	---	---	---	---					-	87908907	TGTGGGC	-	87908901	7	5	149	1	0	1	0	1	0	0	0	0	15370	1696	59	0	191	0	STEAP4	7	87908901	Frame_Shift_Del	DEL	TGTGGGC	TCGA-CQ-6225-01A-11D-1912-08	14304738	87908901	71229762	77	27593											
AZGP1	563	broad.mit.edu	37	chr7	99565809	99565809	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatatttttgctgtatttCaggtatttccgcagagtcgc	8	16	10	7	2	1	1	1	0	0	1	3	2	2	2	1	2	1	4	1	2	3	7			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:99565809C>A	ENST00000411734.1	-	3	578	c.573G>T	c.(571-573)ctG>ctT	p.L191L	AZGP1_ENST00000292401.4_Silent_p.L194L			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	194					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGCTGTATTTCAGGTATTTCC	0.547													37	44					1.836e-18	2.26118e-18	1	0	A	99565809	C	A	99565809	2	1	149	1	0	0	0	0	0	0	0	1	1243	813	29	2		2	AZGP1	7	99565809	Silent	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	11656908	99565809	59572854	78	27594											
RELN	5649	broad.mit.edu	37	chr7	103143679	103143679	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttacatccaactgagatcTaataaacagaaaaacaagat	20	8	4	9	0	1	3	0	1	1	3	2	4	2	3	2	0	4	0	2	0	8	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:103143679T>A	ENST00000428762.1	-	52	8434		c.e52-2		RELN_ENST00000343529.5_Splice_Site|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTGAGATCTAATAAACAGA	0.368													13	38					0	0	0	0	A	103143679	T	A	103143679	5	1	149	1	0	0	0	0	0	0	1	0	13302	1536	53	5	2165	5	RELN	7	103143679	Splice_Site	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	3577870	103143679	55994984	79	27595											
ASB15	142685	broad.mit.edu	37	chr7	123267298	123267298	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctaaccgagcaggacatCttcctatacaccgagctgcc	11	8	7	15	2	1	0	0	0	1	0	2	3	2	1	5	1	6	2	5	1	4	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:123267298C>A	ENST00000451558.1	+	11	1353	c.832C>A	c.(832-834)Ctt>Att	p.L278I	ASB15_ENST00000275699.3_Missense_Mutation_p.L278I|ASB15_ENST00000451215.1_Missense_Mutation_p.L278I|ASB15_ENST00000540573.1_Missense_Mutation_p.L278I|ASB15_ENST00000434204.1_Missense_Mutation_p.L278I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	278					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGCAGGACATCTTCCTATACA	0.438													18	23					1.33834e-09	1.5897e-09	1	0	A	123267298	C	A	123267298	3	1	149	1	0	0	0	0	1	0	0	0	1023	913	32	2	854	2	ASB15	7	123267298	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	20123619	123267298	35871365	80	27596											
ASB15	142685	broad.mit.edu	37	chr7	123269291	123269291	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttattttatgcatgtgaatGacactcgtttccccagtgtc	8	16	8	9	1	0	2	0	2	0	0	3	2	1	2	2	0	1	3	2	0	3	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:123269291G>C	ENST00000451558.1	+	12	1764	c.1243G>C	c.(1243-1245)Gac>Cac	p.D415H	ASB15_ENST00000275699.3_Missense_Mutation_p.D415H|ASB15_ENST00000451215.1_Missense_Mutation_p.D415H|ASB15_ENST00000540573.1_Missense_Mutation_p.D415H|ASB15_ENST00000434204.1_Missense_Mutation_p.D415H			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	415					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GCATGTGAATGACACTCGTTT	0.418													25	83					0	0	0	0	C	123269291	G	C	123269291	3	2	149	1	0	0	0	0	1	0	0	0	1023	1290	45	2	1269	2	ASB15	7	123269291	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	1993	123269291	35869372	81	27597											
HIPK2	28996	broad.mit.edu	37	chr7	139258060	139258060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgtgcgggaaggagtaCggagcctgggccatggtggg	6	8	20	7	2	0	0	0	0	0	0	0	3	0	3	2	6	3	2	2	6	2	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:139258060C>T	ENST00000406875.3	-	15	3304	c.3210G>A	c.(3208-3210)ccG>ccA	p.P1070P	HIPK2_ENST00000428878.2_Silent_p.P1043P	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1070	Autoinhibitory domain (AID).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGAAGGAGTACGGAGCCTGGG	0.682													47	77					0	0	0	0	T	139258060	C	T	139258060	2	4	149	1	0	0	0	0	0	0	0	1	7167	523	19	1		1	HIPK2	7	139258060	Silent	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	15988769	139258060	19880603	82	27598											
MGAM	8972	broad.mit.edu	37	chr7	141722076	141722076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgtgtctaggtttgactCgagcattgggcccctactgt	6	13	11	11	1	1	1	0	1	1	0	2	2	1	1	3	2	2	2	3	2	2	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:141722076C>T	ENST00000475668.2	+	7	773	c.719C>T	c.(718-720)tCg>tTg	p.S240L	MGAM_ENST00000549489.2_Missense_Mutation_p.S240L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	240	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGTTTGACTCGAGCATTGGG	0.522													30	52					0	0	0	0	T	141722076	C	T	141722076	3	4	149	1	0	0	0	0	1	0	0	0	9610	893	31	1	741	1	MGAM	7	141722076	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	2464016	141722076	17416587	83	27599											
ZNF212	7988	broad.mit.edu	37	chr7	148947393	148947393	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggagaagaagatggaGtcccaggctgcccggctaca	10	6	15	10	1	0	3	0	0	0	3	1	5	1	4	2	4	2	3	2	4	3	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:148947393G>A	ENST00000335870.2	+	2	296	c.168G>A	c.(166-168)gaG>gaA	p.E56E		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AGAAGATGGAGTCCCAGGCTG	0.582													6	80					0	0	0	0	A	148947393	G	A	148947393	2	1	149	1	0	0	0	0	0	0	0	1	17863	1020	36	4		4	ZNF212	7	148947393	Silent	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	7225317	148947393	10191270	84	27600											
HTR5A	3361	broad.mit.edu	37	chr7	154862705	154862705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagacgacctgcgccccagCtcgcccctgctctcggtctt	6	8	9	18	4	2	1	0	0	2	1	4	2	2	1	5	1	3	2	5	1	1	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:154862705C>T	ENST00000287907.2	+	1	672	c.96C>T	c.(94-96)agC>agT	p.S32S	AC093726.4_ENST00000395731.2_Intron|AC093726.4_ENST00000543018.1_Intron|AC093726.4_ENST00000493904.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	32						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGCGCCCCAGCTCGCCCCTGC	0.607													23	87					0	0	0	0	T	154862705	C	T	154862705	2	4	149	1	0	0	0	0	0	0	0	1	7503	796	28	4		4	HTR5A	7	154862705	Silent	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	5915312	154862705	4275958	85	27601											
SGK223	157285	broad.mit.edu	37	chr8	8185978	8185978	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagctcagacgagggacCtgaagaggagagacagaaac	16	2	14	9	1	1	5	1	1	0	4	1	9	1	7	2	2	3	1	2	2	2	0			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:8185978C>G	ENST00000520004.1	-	5	2579		c.e5-1		SGK223_ENST00000330777.4_Splice_Site			Q86YV5	SG223_HUMAN									ATP binding|non-membrane spanning protein tyrosine kinase activity										GACGAGGGACCTGAAGAGGAG	0.522													8	6					0	0	0	0	G	8185978	C	G	8185978	5	3	149	1	0	0	0	0	0	0	1	0	14297	695	24	4	1902	4	SGK223	8	8185978	Splice_Site	SNP	C	TCGA-CQ-6225-01A-11D-1912-08		8185978	138178044	86	27602											
GSR	2936	broad.mit.edu	37	chr8	30557645	30557645	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgctggttattcctaaGctggcacctatgtagaaaaa	12	11	8	10	1	0	1	0	0	0	1	2	1	1	1	3	2	1	5	3	2	6	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:30557645G>A	ENST00000221130.5	-	6	738	c.648C>T	c.(646-648)agC>agT	p.S216S	GSR_ENST00000546342.1_Silent_p.S216S|GSR_ENST00000541648.1_Silent_p.S216S|GSR_ENST00000537535.1_Silent_p.S216S|GSR_ENST00000414019.1_Silent_p.S173S	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	216					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TTATTCCTAAGCTGGCACCTA	0.433													41	12					0	0	0	0	A	30557645	G	A	30557645	2	1	149	1	0	0	0	0	0	0	0	1	6878	962	34	4		4	GSR	8	30557645	Silent	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	22371667	30557645	115806377	87	27603											
PXDNL	137902	broad.mit.edu	37	chr8	52320696	52320696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaagttcttaactgaaGtcaaattacagaaaactctg	16	11	5	9	0	4	2	2	1	2	1	4	2	4	2	1	0	3	1	1	0	7	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:52320696G>A	ENST00000356297.4	-	17	3588	c.3488C>T	c.(3487-3489)aCt>aTt	p.T1163I	PXDNL_ENST00000543296.1_Missense_Mutation_p.T1163I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1163					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTTAACTGAAGTCAAATTACA	0.403													4	82					0	0	0	0	A	52320696	G	A	52320696	3	1	149	1	0	0	0	0	1	0	0	0	12930	1029	36	4	931	4	PXDNL	8	52320696	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	21763051	52320696	94043326	88	27604											
PCMTD1	115294	broad.mit.edu	37	chr8	52773448	52773448	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaatatccggttccactTcccaggttaagaaaagacaa	15	10	6	10	1	0	2	0	0	0	2	3	2	3	2	3	2	0	2	3	2	7	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:52773448T>C	ENST00000360540.5	-	3	670	c.264A>G	c.(262-264)ggA>ggG	p.G88G	PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000522514.1_Silent_p.G88G|PCMTD1_ENST00000521344.1_Silent_p.G88G	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	88						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CGGTTCCACTTCCCAGGTTAA	0.333													3	36					0	0	0	0	C	52773448	T	C	52773448	2	2	149	1	0	0	0	0	0	0	0	1	11657	1770	62	5		5	PCMTD1	8	52773448	Silent	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	452752	52773448	93590574	89	27605											
ST18	9705	broad.mit.edu	37	chr8	53126796	53126796	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagcgagtacgcagcgtttTatcttcagcctctgcatcca	9	11	9	12	3	3	1	1	0	2	1	4	2	4	1	2	0	5	4	2	0	2	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:53126796T>C	ENST00000276480.7	-	7	705	c.22A>G	c.(22-24)Aaa>Gaa	p.K8E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	8						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CGCAGCGTTTTATCTTCAGCC	0.428													58	68					0	0	0	0	C	53126796	T	C	53126796	3	2	149	1	0	0	0	0	1	0	0	0	15302	1763	61	5	3201	5	ST18	8	53126796	Missense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	353348	53126796	93237226	90	27606											
MOS	4342	broad.mit.edu	37	chr8	57025569	57025569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctcggcctctgcgccgCgctgggtctccagcagcgct	2	7	14	18	7	2	0	0	0	2	0	4	0	2	0	3	2	3	4	3	2	0	0			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:57025569C>T	ENST00000311923.1	-	1	972	c.973G>A	c.(973-975)Gcg>Acg	p.A325T		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	325	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CTCTGCGCCGCGCTGGGTCTC	0.632													18	25					0	0	0	0	T	57025569	C	T	57025569	3	4	149	1	0	0	0	0	1	0	0	0	9782	768	27	1	70	1	MOS	8	57025569	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	3898773	57025569	89338453	91	27607											
SGK3	23678	broad.mit.edu	37	chr8	67740926	67740926	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatcaacctgggaccgtCtggaaatcctcagtatgttt	11	11	9	10	1	3	0	2	0	1	0	4	3	4	2	3	2	2	2	3	2	4	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:67740926C>A	ENST00000396596.1	+	7	669	c.455C>A	c.(454-456)tCt>tAt	p.S152Y	SGK3_ENST00000522398.1_Missense_Mutation_p.S152Y|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.S152Y|SGK3_ENST00000521198.2_Missense_Mutation_p.S152Y|SGK3_ENST00000345714.4_Missense_Mutation_p.S152Y|SGK3_ENST00000520976.1_Missense_Mutation_p.S152Y	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	152					cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTGGGACCGTCTGGAAATCCT	0.328													45	81					2.48909e-17	3.04946e-17	1	0	A	67740926	C	A	67740926	3	1	149	1	0	0	0	0	1	0	0	0	14299	913	32	2	477	2	SGK3	8	67740926	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	10715357	67740926	78623096	92	27608											
TRAM1	23471	broad.mit.edu	37	chr8	71487192	71487192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatttctcttttttattcCggggagagtctgctacattt	8	18	8	7	1	2	2	0	0	2	2	4	3	3	2	1	2	2	1	1	2	3	7			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:71487192C>T	ENST00000521425.1	-	11	1878	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	TRAM1_ENST00000536748.1_Missense_Mutation_p.R336Q|TRAM1_ENST00000262213.2_Missense_Mutation_p.R367Q			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	367	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TTTTTTATTCCGGGGAGAGTC	0.294													18	14					0	0	0	0	T	71487192	C	T	71487192	3	4	149	1	0	0	0	0	1	0	0	0	16546	652	23	1	28	1	TRAM1	8	71487192	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	3746266	71487192	74876830	93	27609											
ZFPM2	23414	broad.mit.edu	37	chr8	106815640	106815640	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagcaaaaggtgtgaatggTtccagccaggctccaaccag	13	7	11	10	0	0	1	0	1	0	0	2	1	2	1	4	3	3	3	4	3	5	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:106815640T>C	ENST00000407775.2	+	8	3580	c.3330T>C	c.(3328-3330)ggT>ggC	p.G1110G	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.G841G|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.G978G|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.G978G|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1110					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTGTGAATGGTTCCAGCCAGG	0.438													21	22					0	0	0	0	C	106815640	T	C	106815640	2	2	149	1	0	0	0	0	0	0	0	1	17753	1712	60	5		5	ZFPM2	8	106815640	Silent	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	35328448	106815640	39548382	94	27610											
FAM83H	286077	broad.mit.edu	37	chr8	144808950	144808950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgctcgataaatcctgtaGttggacttcctcttcgagtg	7	15	9	10	2	2	0	0	0	2	0	6	3	4	1	2	1	1	3	2	1	3	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:144808950G>C	ENST00000388913.3	-	5	2806	c.2681C>G	c.(2680-2682)aCt>aGt	p.T894S		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	894					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAATCCTGTAGTTGGACTTCC	0.637													20	22					0	0	0	0	C	144808950	G	C	144808950	3	2	149	1	0	0	0	0	1	0	0	0	5686	1029	36	4	862	4	FAM83H	8	144808950	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	37993310	144808950	1555072	95	27611											
WNK2	65268	broad.mit.edu	37	chr9	96055448	96055448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaggagctgcagagtctgCgggagaagtaggtcctgcgg	10	6	18	7	2	1	3	0	0	1	3	2	5	2	4	1	4	4	3	1	4	3	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:96055448C>T	ENST00000297954.4	+	23	5812	c.5812C>T	c.(5812-5814)Cgg>Tgg	p.R1938W	WNK2_ENST00000427277.2_Missense_Mutation_p.R1513W|WNK2_ENST00000395477.2_Missense_Mutation_p.R1901W|WNK2_ENST00000356055.3_Missense_Mutation_p.R263W|WNK2_ENST00000349097.3_Missense_Mutation_p.R1550W|WNK2_ENST00000395475.2_3'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1938					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCAGAGTCTGCGGGAGAAGTA	0.607													7	6					0	0	0	0	T	96055448	C	T	96055448	3	4	149	1	0	0	0	0	1	0	0	0	17474	759	27	1	5787	1	WNK2	9	96055448	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08		96055448	45157983	96	27612											
GPR21	2844	broad.mit.edu	37	chr9	125797792	125797792	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtattccaaagaggactaaAgcgcctctcaggggctatgt	11	10	11	9	1	1	1	1	0	1	1	3	2	2	2	2	3	1	2	2	3	5	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:125797792A>G	ENST00000373642.1	+	1	987	c.947A>G	c.(946-948)aAg>aGg	p.K316R	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	316						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						AGAGGACTAAAGCGCCTCTCA	0.453													51	41					0	0	0	0	G	125797792	A	G	125797792	3	3	149	1	0	0	0	0	1	0	0	0	6730	72	3	5	949	5	GPR21	9	125797792	Missense_Mutation	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	29742344	125797792	15415639	97	27613											
DENND1A	57706	broad.mit.edu	37	chr9	126164103	126164103	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaagtcaatgtgatgaagAggtccagcctctcgtcggga	10	9	13	9	3	2	3	1	2	1	1	5	4	3	4	2	2	1	1	2	2	3	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:126164103A>T	ENST00000373620.3	-	21	1886	c.1666T>A	c.(1666-1668)Tct>Act	p.S556T	DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000394215.2_Missense_Mutation_p.S526T|DENND1A_ENST00000373624.2_Intron|DENND1A_ENST00000542603.1_Intron	NM_024820.2	NP_079096.2	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	0						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGTGATGAAGAGGTCCAGCCT	0.507											OREG0019470	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	45					0	0	0	0	T	126164103	A	T	126164103	3	4	149	1	0	0	0	0	1	0	0	0	4463	304	11	5	1478	5	DENND1A	9	126164103	Missense_Mutation	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	366311	126164103	15049328	98	27614											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130653215	130653215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtggtgggtgcatcattCatgcggattgtacactcagc	8	11	12	10	1	3	0	3	0	0	0	3	1	3	1	1	3	4	2	1	3	1	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:130653215C>T	ENST00000373146.1	-	5	584	c.405G>A	c.(403-405)atG>atA	p.M135I	ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.M101I|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.M135I|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.M135I|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.M101I			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	135					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGCATCATTCATGCGGATTG	0.617													14	33					0	0	0	0	T	130653215	C	T	130653215	3	4	149	1	0	0	0	0	1	0	0	0	15318	826	29	2	608	2	ST6GALNAC6	9	130653215	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	4489112	130653215	10560216	99	27615											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130653241	130653241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gattgtacactcagcccgctCgatctcagggcccagcttgg	7	9	11	14	2	2	0	2	0	1	0	4	2	2	0	2	2	3	3	2	2	1	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:130653241C>G	ENST00000373146.1	-	5	558	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.E93Q|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.E127Q|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.E127Q|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.E93Q			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	127					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCAGCCCGCTCGATCTCAGGG	0.592													15	28					0	0	0	0	G	130653241	C	G	130653241	3	3	149	1	0	0	0	0	1	0	0	0	15318	893	31	3	634	3	ST6GALNAC6	9	130653241	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	26	130653241	10560190	100	27616											
CDH23	64072	broad.mit.edu	37	chr10	73405728	73405728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacgagaccgtggaccgctaCgactttgatgtaaggcccca	10	8	11	12	4	0	2	0	1	0	1	0	5	0	3	4	2	2	2	4	2	3	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:73405728C>T	ENST00000224721.6	+	12	1301	c.1296C>T	c.(1294-1296)taC>taT	p.Y432Y	CDH23_ENST00000299366.7_Silent_p.Y472Y|CDH23_ENST00000398809.4_Silent_p.Y427Y|CDH23_ENST00000461841.3_Silent_p.Y472Y|CDH23_ENST00000398842.3_Silent_p.Y427Y	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	427	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGACCGCTACGACTTTGATG	0.587													17	2					0	0	0	0	T	73405728	C	T	73405728	2	4	149	1	0	0	0	0	0	0	0	1	3137	547	19	1		1	CDH23	10	73405728	Silent	SNP	C	TCGA-CQ-6225-01A-11D-1912-08		73405728	62129019	101	27617											
AGAP5	729092	broad.mit.edu	37	chr10	75435138	75435138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatcccgctcctcatacGtcgtggcttcaaagtgccat	8	10	9	14	3	2	0	2	0	0	0	5	0	4	0	3	2	2	3	3	2	2	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:75435138G>A	ENST00000443782.2	-	7	1336	c.1211C>T	c.(1210-1212)aCg>aTg	p.T404M	RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Missense_Mutation_p.T427M			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	427	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CTCCTCATACGTCGTGGCTTC	0.512													125	30					0	0	0	0	A	75435138	G	A	75435138	3	1	149	1	0	0	0	0	1	0	0	0	371	1145	40	1	784	1	AGAP5	10	75435138	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	2029410	75435138	60099609	102	27618											
PIK3AP1	118788	broad.mit.edu	37	chr10	98469638	98469638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagtcagtatcttctggCtgcggacctgccgactggac	6	11	13	11	2	3	1	1	1	2	0	3	4	3	3	2	3	2	2	2	3	1	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:98469638C>T	ENST00000339364.5	-	2	235	c.116G>A	c.(115-117)aGc>aAc	p.S39N		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	39						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TATCTTCTGGCTGCGGACCTG	0.622													20	16					0	0	0	0	T	98469638	C	T	98469638	3	4	149	1	0	0	0	0	1	0	0	0	11980	797	28	4	2365	4	PIK3AP1	10	98469638	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	23034500	98469638	37065109	103	27619											
ATRNL1	26033	broad.mit.edu	37	chr10	117001476	117001476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttccttgagtaacggtgCaaaatgtttttctgccgatt	9	15	8	9	2	1	1	0	1	1	0	2	2	2	1	2	1	3	3	2	1	3	6			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:117001476C>T	ENST00000355044.3	+	10	1775	c.1649C>T	c.(1648-1650)gCa>gTa	p.A550V		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	550						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGTAACGGTGCAAAATGTTTT	0.363													28	3					0	0	0	0	T	117001476	C	T	117001476	3	4	149	1	0	0	0	0	1	0	0	0	1211	710	25	4	1687	4	ATRNL1	10	117001476	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	18531838	117001476	18533271	104	27620											
MGMT	4255	broad.mit.edu	37	chr10	131565232	131565232	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagggagcgggagctaccTcgggctccccgcctgctggc	5	6	15	15	3	1	0	1	0	0	0	3	2	2	2	4	4	4	3	4	4	2	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:131565232T>G	ENST00000306010.7	+	5	720	c.688T>G	c.(688-690)Tcg>Gcg	p.S230A		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	230										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GGGAGCTACCTCGGGCTCCCC	0.637								Direct reversal of damage					9	31					0	0	0	0	G	131565232	T	G	131565232	3	3	149	1	0	0	0	0	1	0	0	0	9626	1551	54	5	706	5	MGMT	10	131565232	Missense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	14563756	131565232	3969515	105	27621											
OR56A1	120796	broad.mit.edu	37	chr11	6048216	6048216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagggccttcactgccGccccctctgctttgaatcta	5	12	8	16	1	4	1	2	1	2	0	4	1	4	1	4	1	3	2	4	1	2	3	rs139301829		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:6048216G>A	ENST00000316650.5	-	1	755	c.719C>T	c.(718-720)gCg>gTg	p.A240V		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCACTGCCGCCCCCTCTGC	0.498													27	20					0	0	0	0	A	6048216	G	A	6048216	3	1	149	1	0	0	0	0	1	0	0	0	11204	1087	38	1	241	1	OR56A1	11	6048216	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08		6048216	128958300	106	27622											
MMP20	9313	broad.mit.edu	37	chr11	102479679	102479679	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcttaccgtataatgccTggatccctttcacatcatct	10	15	4	12	1	4	0	2	0	2	0	5	1	5	1	3	1	2	1	3	1	4	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:102479679T>G	ENST00000260228.2	-	5	812	c.800A>C	c.(799-801)cAg>cCg	p.Q267P	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	267					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GTATAATGCCTGGATCCCTTT	0.433													23	67					0	0	0	0	G	102479679	T	G	102479679	3	3	149	1	0	0	0	0	1	0	0	0	9728	1580	55	5	675	5	MMP20	11	102479679	Missense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	96431463	102479679	32526837	107	27623											
USP28	57646	broad.mit.edu	37	chr11	113712437	113712437	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggagactccagtagactcaAagcaatggcagcctgaagat	14	6	12	9	0	1	4	1	1	0	3	2	5	2	4	2	2	2	3	2	2	4	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:113712437A>G	ENST00000003302.4	-	4	390	c.322T>C	c.(322-324)Ttg>Ctg	p.L108L	USP28_ENST00000542033.1_5'UTR|USP28_ENST00000545540.1_5'UTR|USP28_ENST00000260188.5_Silent_p.L108L|USP28_ENST00000537706.1_Silent_p.L108L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	108					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGTAGACTCAAAGCAATGGCA	0.348													55	48					0	0	0	0	G	113712437	A	G	113712437	2	3	149	1	0	0	0	0	0	0	0	1	17154	11	1	5		5	USP28	11	113712437	Silent	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	11232758	113712437	21294079	108	27624											
ABCG4	64137	broad.mit.edu	37	chr11	119027587	119027587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	actctgtgtccccagtcatcGaggtggcctctggcgagtat	6	11	12	12	2	3	0	1	0	2	0	5	2	4	0	3	3	0	1	3	3	1	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:119027587G>C	ENST00000307417.3	+	9	1295	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	ABCG4_ENST00000531739.1_Missense_Mutation_p.E311Q|ABCG4_ENST00000449422.2_Missense_Mutation_p.E311Q	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	311					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCAGTCATCGAGGTGGCCTC	0.577													21	101					0	0	0	0	C	119027587	G	C	119027587	3	2	149	1	0	0	0	0	1	0	0	0	70	1059	37	3	961	3	ABCG4	11	119027587	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	5315150	119027587	15978929	109	27625											
TECTA	7007	broad.mit.edu	37	chr11	121016697	121016697	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccaccttcttctataagaActgcctgtttgactcttgca	8	14	5	14	0	3	2	0	1	3	1	3	2	3	2	4	0	3	2	4	0	3	6			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:121016697A>G	ENST00000392793.1	+	12	4248	c.3977A>G	c.(3976-3978)aAc>aGc	p.N1326S	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.N1326S			O75443	TECTA_HUMAN	tectorin alpha	1326					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTCTATAAGAACTGCCTGTTT	0.567													73	103					0	0	0	0	G	121016697	A	G	121016697	3	3	149	1	0	0	0	0	1	0	0	0	15841	43	2	5	4019	5	TECTA	11	121016697	Missense_Mutation	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	1989110	121016697	13989819	110	27626											
IFFO1	25900	broad.mit.edu	37	chr12	6659050	6659050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggatcttggtgtccaGctccgacaggttctgtccag	5	12	11	13	1	2	0	0	0	2	0	6	2	6	1	4	3	1	2	4	3	0	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:6659050G>T	ENST00000436152.2	-	5	581	c.22C>A	c.(22-24)Ctg>Atg	p.L8M	IFFO1_ENST00000356896.4_Missense_Mutation_p.L315M|IFFO1_ENST00000336604.4_Missense_Mutation_p.L315M|IFFO1_ENST00000396840.2_Missense_Mutation_p.L315M|IFFO1_ENST00000465801.1_Missense_Mutation_p.L8M			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	315						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TTGGTGTCCAGCTCCGACAGG	0.587													9	9					1.12685e-05	1.31186e-05	1	0	T	6659050	G	T	6659050	3	4	149	1	0	0	0	0	1	0	0	0	7563	962	34	4	776	4	IFFO1	12	6659050	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08		6659050	127192845	111	27627											
SLCO1B1	10599	broad.mit.edu	37	chr12	21325613	21325613	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagctctgtcactcagcttTattgctaagacactaggtgc	9	12	9	11	0	3	1	2	0	1	1	3	1	3	1	0	1	4	4	0	1	3	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:21325613T>C	ENST00000256958.2	+	3	210	c.114T>C	c.(112-114)ttT>ttC	p.F38F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	38					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CACTCAGCTTTATTGCTAAGA	0.368													11	58					0	0	0	0	C	21325613	T	C	21325613	2	2	149	1	0	0	0	0	0	0	0	1	14811	1751	61	5		5	SLCO1B1	12	21325613	Silent	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	14666563	21325613	112526282	112	27628											
PRICKLE1	144165	broad.mit.edu	37	chr12	42858530	42858530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtgctcactggctcgaatatCcatctcattgggctgtggct	6	13	11	11	1	2	0	2	0	1	0	5	1	3	0	1	3	1	4	1	3	2	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:42858530C>G	ENST00000455697.1	-	7	1591	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.D436H|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.D436H|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.D436H|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.D436H	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	436					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCTCGAATATCCATCTCATTG	0.423													25	52					0	0	0	0	G	42858530	C	G	42858530	3	3	149	1	0	0	0	0	1	0	0	0	12566	855	30	2	1197	2	PRICKLE1	12	42858530	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	21532917	42858530	90993365	113	27629											
OR6C2	341416	broad.mit.edu	37	chr12	55846799	55846802	+	Frame_Shift_Del	DEL	ATAA	ATAA	-																															ctgcaaaagatgaggtggccAtaaataaaggagtttcagtt																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:55846799_55846802delATAA	ENST00000322678.1	+	1	802_805	c.802_805delATAA	c.(802-807)atfs	p.IN268fs	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGAGGTGGCCATAAATAAAGGAGT	0.436													33	35	---	---	---	---					-	55846802	ATAA	-	55846799	7	5	149	1	0	1	0	1	0	0	0	0	11262	217	8	0	804	0	OR6C2	12	55846799	Frame_Shift_Del	DEL	ATAA	TCGA-CQ-6225-01A-11D-1912-08	12988269	55846799	78005096	114	27630											
CAND1	55832	broad.mit.edu	37	chr12	67699816	67699816	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttactctcagagcacagctCttactcataagcagtcttat	11	14	5	11	0	4	1	2	0	3	1	5	1	4	1	0	0	5	3	0	0	4	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:67699816C>G	ENST00000545606.1	+	10	2805	c.2368C>G	c.(2368-2370)Ctt>Gtt	p.L790V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	790					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAGCACAGCTCTTACTCATAA	0.433													50	44					0	0	0	0	G	67699816	C	G	67699816	3	3	149	1	0	0	0	0	1	0	0	0	2640	913	32	2	2406	2	CAND1	12	67699816	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	11853017	67699816	66152079	115	27631											
ACSS3	79611	broad.mit.edu	37	chr12	81532986	81532986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtaccacttgtagaagaagCgctaaaaataggacaacaca	18	6	8	9	2	0	2	0	0	0	2	0	3	0	3	1	1	3	3	1	1	9	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:81532986C>T	ENST00000548058.1	+	4	1632	c.722C>T	c.(721-723)gCg>gTg	p.A241V	ACSS3_ENST00000261206.3_Missense_Mutation_p.A240V			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	241						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTAGAAGAAGCGCTAAAAATA	0.353													24	13					0	0	0	0	T	81532986	C	T	81532986	3	4	149	1	0	0	0	0	1	0	0	0	190	768	27	1	736	1	ACSS3	12	81532986	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	13833170	81532986	52318909	116	27632											
SLC41A2	84102	broad.mit.edu	37	chr12	105238389	105238389	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagaacttgagcagacttaTtatttactcctgtaatataa	14	15	6	6	0	0	3	0	1	0	2	1	3	1	3	1	0	3	3	1	0	8	9			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:105238389T>A	ENST00000258538.3	-	9	1524	c.1397A>T	c.(1396-1398)aAt>aTt	p.N466I		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	466						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						AGCAGACTTATTATTTACTCC	0.254													4	58					0	0	0	0	A	105238389	T	A	105238389	3	1	149	1	0	0	0	0	1	0	0	0	14718	1493	52	5	332	5	SLC41A2	12	105238389	Missense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	23705403	105238389	28613506	117	27633											
PLBD2	196463	broad.mit.edu	37	chr12	113810606	113810606	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacccagactcaccttactgGcaccaggtgagtcctgctgc	9	8	9	15	0	1	2	1	1	0	1	2	2	2	2	4	2	4	2	4	2	2	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:113810606G>C	ENST00000280800.3	+	3	568	c.537G>C	c.(535-537)tgG>tgC	p.W179C	PLBD2_ENST00000545182.2_Missense_Mutation_p.W179C	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	179					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CACCTTACTGGCACCAGGTGA	0.587													36	29					0	0	0	0	C	113810606	G	C	113810606	3	2	149	1	0	0	0	0	1	0	0	0	12098	1212	42	4	547	4	PLBD2	12	113810606	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	8572217	113810606	20041289	118	27634											
UBC	7316	broad.mit.edu	37	chr12	125397972	125397972	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaagatcaacctctgctGgtcaggaggaatgccttcct	10	9	11	11	0	3	1	2	0	1	1	4	3	4	3	3	4	3	2	3	4	3	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:125397972G>A	ENST00000536769.1	-	1	1922	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	UBC_ENST00000538617.1_Nonsense_Mutation_p.Q116*|UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Nonsense_Mutation_p.Q116*			P0CG48	UBC_HUMAN	ubiquitin C	116	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.G111fs*15(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AACCTCTGCTGGTCAGGAGGA	0.547													41	129					0	0	0	0	A	125397972	G	A	125397972	4	1	149	1	0	0	0	0	0	1	0	0	16938	1357	47	4	1715	4	UBC	12	125397972	Nonsense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	11587366	125397972	8453923	119	27635											
ADCK1	57143	broad.mit.edu	37	chr14	78325478	78325478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccaaccggggcaccttCatcaaggtgggccagcacct	8	7	12	14	1	2	0	2	0	0	0	2	0	2	0	5	4	3	2	5	4	2	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:78325478C>A	ENST00000238561.5	+	4	378	c.279C>A	c.(277-279)ttC>ttA	p.F93L	ADCK1_ENST00000341211.5_Intron	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	100						extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GGGGCACCTTCATCAAGGTGG	0.622													51	48					9.52127e-25	1.19784e-24	1	0	A	78325478	C	A	78325478	3	1	149	1	0	0	0	0	1	0	0	0	288	825	29	2	289	2	ADCK1	14	78325478	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08		78325478	29024062	120	27636											
EML5	161436	broad.mit.edu	37	chr14	89082514	89082514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcacctccagcactaacaaCatgtcgatcaccactggtaa	14	8	5	14	1	2	0	2	0	0	0	4	1	3	0	3	1	3	2	3	1	3	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:89082514C>T	ENST00000554922.1	-	43	6117	c.5869G>A	c.(5869-5871)Gtt>Att	p.V1957I	EML5_ENST00000380664.5_Missense_Mutation_p.V1949I|EML5_ENST00000352093.5_Missense_Mutation_p.V1911I	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1949						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCACTAACAACATGTCGATCA	0.418													53	81					0	0	0	0	T	89082514	C	T	89082514	3	4	149	1	0	0	0	0	1	0	0	0	5138	478	17	4	72	4	EML5	14	89082514	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	10757036	89082514	18267026	121	27637											
MOAP1	64112	broad.mit.edu	37	chr14	93649974	93649974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaaggctctctagcaatCgccttctcttctctacatct	7	14	5	15	2	4	0	0	0	4	0	9	1	4	0	1	1	2	2	1	1	4	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:93649974C>A	ENST00000556883.1	-	2	1098	c.614G>T	c.(613-615)cGa>cTa	p.R205L	MOAP1_ENST00000298894.4_Missense_Mutation_p.R205L			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	205	RASSF1-binding.				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	p.R205Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ctctagcaatcgccttctctt	0.463													25	72					3.6726e-16	4.42984e-16	1	0	A	93649974	C	A	93649974	3	1	149	1	0	0	0	0	1	0	0	0	9750	884	31	3	445	3	MOAP1	14	93649974	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	4567460	93649974	13699566	122	27638											
CYP46A1	10858	broad.mit.edu	37	chr14	100182184	100182184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagctccgggaggtccGggagagcattcgcttcctgc	7	7	15	12	3	0	1	0	0	0	1	4	4	3	2	3	3	4	4	3	3	1	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:100182184G>A	ENST00000554176.1	+	3	938	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	CYP46A1_ENST00000261835.3_Missense_Mutation_p.R244Q|CYP46A1_ENST00000423126.2_Missense_Mutation_p.R147Q			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	244					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CGGGAGGTCCGGGAGAGCATT	0.632													26	38					0	0	0	0	A	100182184	G	A	100182184	3	1	149	1	0	0	0	0	1	0	0	0	4214	1116	39	1	761	1	CYP46A1	14	100182184	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	6532210	100182184	7167356	123	27639											
HERC2	8924	broad.mit.edu	37	chr15	28413737	28413737	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggccccgacaacagcatctCtgtcaggacacaaagccagg	12	4	11	14	1	2	0	1	0	1	0	3	2	2	1	3	3	3	1	3	3	2	0			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:28413737C>G	ENST00000261609.7	-	67	10338		c.e67-1			NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AACAGCATCTCTGTCAGGACA	0.647													12	14					0	0	0	0	G	28413737	C	G	28413737	5	3	149	1	0	0	0	0	0	0	1	0	7108	927	32	2	4383	2	HERC2	15	28413737	Splice_Site	SNP	C	TCGA-CQ-6225-01A-11D-1912-08		28413737	74117655	124	27640											
TRPM1	4308	broad.mit.edu	37	chr15	31354781	31354781	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaataaattcaagacacttaCgagttctttcttcttcatgc	13	15	4	9	1	5	1	2	0	3	1	5	2	5	1	0	0	2	1	0	0	5	7			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:31354781C>G	ENST00000542188.1	-	8	1454		c.e8+1		TRPM1_ENST00000256552.6_Splice_Site|TRPM1_ENST00000397795.2_Splice_Site	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1						cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AAGACACTTACGAGTTCTTTC	0.348													4	94					0	0	0	0	G	31354781	C	G	31354781	5	3	149	1	0	0	0	0	0	0	1	0	16680	550	19	3	3867	3	TRPM1	15	31354781	Splice_Site	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	2941044	31354781	71176611	125	27641											
SLC12A1	6557	broad.mit.edu	37	chr15	48500015	48500015	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagaaccatgagagcagTgcagctgcagatgacaatac	16	6	11	8	0	0	4	0	3	0	3	0	6	0	4	1	0	6	4	1	0	4	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:48500015T>C	ENST00000396577.3	+	2	314	c.99T>C	c.(97-99)agT>agC	p.S33S	SLC12A1_ENST00000330289.6_Silent_p.S33S|SLC12A1_ENST00000558405.1_Silent_p.S33S|SLC12A1_ENST00000380993.3_Silent_p.S33S|SLC12A1_ENST00000561031.1_Silent_p.S33S	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	33					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATGAGAGCAGTGCAGCTGCAG	0.428													17	22					0	0	0	0	C	48500015	T	C	48500015	2	2	149	1	0	0	0	0	0	0	0	1	14470	1693	59	5		5	SLC12A1	15	48500015	Silent	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	17145234	48500015	54031377	126	27642											
DMXL2	23312	broad.mit.edu	37	chr15	51809332	51809332	+	Silent	SNP	G	G	A																															ggtcgagcagtagactgttgGctcacaatattaaacacttc																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:51809332G>A	ENST00000251076.5	-	14	2756	c.2469C>T	c.(2467-2469)agC>agT	p.S823S	DMXL2_ENST00000449909.3_Silent_p.S823S|DMXL2_ENST00000543779.2_Silent_p.S823S	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	823						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TAGACTGTTGGCTCACAATAT	0.333													6	136					0	0	0	0	A	51809332	G	A	51809332	2	1	149	1	0	0	0	0	0	0	0	1	4632	1194	42	4		4	DMXL2	15	51809332	Silent	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	3309317	51809332	50722060	127	27643	219	2									
DMXL2	23312	broad.mit.edu	37	chr15	51809333	51809333	+	Missense_Mutation	SNP	C	C	T																															gtcgagcagtagactgttggCtcacaatattaaacacttct																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:51809333C>T	ENST00000251076.5	-	14	2755	c.2468G>A	c.(2467-2469)aGc>aAc	p.S823N	DMXL2_ENST00000449909.3_Missense_Mutation_p.S823N|DMXL2_ENST00000543779.2_Missense_Mutation_p.S823N	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	823						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGACTGTTGGCTCACAATATT	0.333													5	135					0	0	0	0	T	51809333	C	T	51809333	3	4	149	1	0	0	0	0	1	0	0	0	4632	797	28	4	6765	4	DMXL2	15	51809333	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	1	51809333	50722059	128	27644	219	2									
UNC13C	440279	broad.mit.edu	37	chr15	54305278	54305278	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaattttcttacacttttAaaagcactgtaaagaagatt	16	14	4	7	0	1	2	0	0	1	2	1	2	1	2	1	0	2	2	1	0	7	7			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:54305278A>T	ENST00000545554.1	+	1	178	c.178A>T	c.(178-180)Aaa>Taa	p.K60*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.K60*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.K60*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	60					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTACACTTTTAAAAGCACTGT	0.418													37	51					0	0	0	0	T	54305278	A	T	54305278	4	4	149	1	0	0	0	0	0	1	0	0	17082	363	13	5	180	5	UNC13C	15	54305278	Nonsense_Mutation	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	2495945	54305278	48226114	129	27645											
RFX7	64864	broad.mit.edu	37	chr15	56386608	56386608	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctggattgagactgataAgactgtccaggcacagcaaa	13	9	11	8	0	1	3	0	2	1	2	2	5	2	4	1	2	1	2	1	2	2	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:56386608A>C	ENST00000423270.1	-	9	3317	c.3318T>G	c.(3316-3318)tcT>tcG	p.S1106S	RFX7_ENST00000317318.6_Silent_p.S1106S|RFX7_ENST00000422057.1_Silent_p.S1009S|RFX7_ENST00000559447.2_Silent_p.S1009S	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1009					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAGACTGATAAGACTGTCCAG	0.448													35	88					0	0	0	0	C	56386608	A	C	56386608	2	2	149	1	0	0	0	0	0	0	0	1	13350	59	3	5		5	RFX7	15	56386608	Silent	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	2081330	56386608	46144784	130	27646											
LARP6	55323	broad.mit.edu	37	chr15	71125421	71125421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatacttcaaagcatgtGctgtggttctccagtcccgt	8	13	9	11	1	2	1	1	1	1	0	4	1	3	1	2	1	3	3	2	1	3	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:71125421G>T	ENST00000299213.8	-	3	516	c.446C>A	c.(445-447)gCa>gAa	p.A149E		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	149	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CAAAGCATGTGCTGTGGTTCT	0.483													36	65					2.75727e-19	3.41377e-19	1	0	T	71125421	G	T	71125421	3	4	149	1	0	0	0	0	1	0	0	0	8685	1319	46	4	1033	4	LARP6	15	71125421	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	14738813	71125421	31405971	131	27647											
DECR2	26063	broad.mit.edu	37	chr16	457468	457471	+	Frame_Shift_Del	DEL	CTCT	CTCT	-																															caccggccggcgctgcctccCtctctctatggacgtccgag																								rs145497745		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:457468_457471delCTCT	ENST00000219481.5	+	4	383_386	c.245_248delCTCT	c.(244-249)ccfs	p.PL82fs	DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Frame_Shift_Del_p.PL70fs|DECR2_ENST00000397710.1_Frame_Shift_Del_p.PL133fs	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	82						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CGCTGCCTCCCTCTCTCTATGGAC	0.632													13	39	---	---	---	---					-	457471	CTCT	-	457468	7	5	149	1	0	1	0	1	0	0	0	0	4415	681	24	0	259	0	DECR2	16	457468	Frame_Shift_Del	DEL	CTCT	TCGA-CQ-6225-01A-11D-1912-08		457468	89897285	132	27648											
SCNN1B	6338	broad.mit.edu	37	chr16	23382771	23382771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggggacagagacgtccatCggggtactcgtggtatggcc	7	8	16	10	4	0	1	0	0	0	1	4	3	1	2	2	6	1	2	2	6	2	2	rs148438164	byFrequency	TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:23382771C>T	ENST00000343070.2	+	6	1208	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	SCNN1B_ENST00000568085.1_Silent_p.I344I|SCNN1B_ENST00000307331.5_Silent_p.I389I|SCNN1B_ENST00000568923.1_Silent_p.I317I	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	344					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGACGTCCATCGGGGTACTCG	0.642													9	23					0	0	0	0	T	23382771	C	T	23382771	2	4	149	1	0	0	0	0	0	0	0	1	14015	874	31	1		1	SCNN1B	16	23382771	Silent	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	22925303	23382771	66971982	133	27649											
ARHGAP17	55114	broad.mit.edu	37	chr16	24990293	24990293	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatattttgttacctgtaaTagatcttcactaaggacttc	11	17	5	8	0	2	1	1	0	1	1	3	2	2	2	1	1	1	2	1	1	6	10			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:24990293T>C	ENST00000289968.6	-	2	156	c.87A>G	c.(85-87)ctA>ctG	p.L29L	ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000441763.2_Silent_p.L29L|ARHGAP17_ENST00000303665.5_Silent_p.L29L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	29	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTACCTGTAATAGATCTTCAC	0.303													12	19					0	0	0	0	C	24990293	T	C	24990293	2	2	149	1	0	0	0	0	0	0	0	1	869	1393	49	5		5	ARHGAP17	16	24990293	Silent	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	1607522	24990293	65364460	134	27650											
ZNF629	23361	broad.mit.edu	37	chr16	30793689	30793689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaggacagcagcccccGcctctggctgaagccctcct	6	7	11	17	1	1	1	0	1	1	0	2	3	2	3	5	3	3	2	5	3	1	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:30793689G>A	ENST00000262525.4	-	3	2167	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGCAGCCCCCGCCTCTGGCTG	0.657													3	7					0	0	0	0	A	30793689	G	A	30793689	3	1	149	1	0	0	0	0	1	0	0	0	18148	1086	38	1	653	1	ZNF629	16	30793689	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	5803396	30793689	59561064	135	27651											
PLLP	51090	broad.mit.edu	37	chr16	57290897	57290897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgccaggcctggtagctgaaGaaggcactcactccataggc	10	6	12	13	1	1	2	1	1	0	1	2	2	2	2	3	4	1	3	3	4	4	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:57290897G>A	ENST00000219207.5	-	4	623	c.477C>T	c.(475-477)ttC>ttT	p.F159F	PLLP_ENST00000569059.1_Silent_p.F101F	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin	159	MARVEL.					integral to membrane	ion channel activity			endometrium(1)|prostate(1)	2						GGTAGCTGAAGAAGGCACTCA	0.582													36	32					0	0	0	0	A	57290897	G	A	57290897	2	1	149	1	0	0	0	0	0	0	0	1	12171	933	33	2		2	PLLP	16	57290897	Silent	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	26497208	57290897	33063856	136	27652											
DOK4	55715	broad.mit.edu	37	chr16	57509863	57509863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacaccagccagcacctccGgtagatctgtggagcgagat	11	6	12	12	2	1	2	0	0	1	2	2	5	2	3	4	2	4	2	4	2	2	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:57509863G>A	ENST00000566936.1	-	2	370	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	DOK4_ENST00000340099.4_Missense_Mutation_p.R25W|DOK4_ENST00000569548.1_Missense_Mutation_p.R25W|DOK4_ENST00000561918.1_5'UTR			Q8TEW6	DOK4_HUMAN	docking protein 4	25	PH.						insulin receptor binding	p.R25G(1)		kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						CAGCACCTCCGGTAGATCTGT	0.667													10	10					0	0	0	0	A	57509863	G	A	57509863	3	1	149	1	0	0	0	0	1	0	0	0	4735	1115	39	1	935	1	DOK4	16	57509863	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	218966	57509863	32844890	137	27653											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	7	6	13	15	3	2	0	2	0	0	0	4	0	3	0	3	3	4	3	3	3	1	0			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:7578403C>G	ENST00000420246.2	-	5	659	c.527G>C	c.(526-528)tGc>tCc	p.C176S	TP53_ENST00000269305.4_Missense_Mutation_p.C176S|TP53_ENST00000455263.2_Missense_Mutation_p.C176S|TP53_ENST00000445888.2_Missense_Mutation_p.C176S|TP53_ENST00000413465.2_Missense_Mutation_p.C176S|TP53_ENST00000359597.4_Missense_Mutation_p.C176S|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	8					0	0	0	0	G	7578403	C	G	7578403	3	3	149	1	0	0	0	0	1	0	0	0	16476	710	25	4	771	4	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08		7578403	73616807	138	27654											
PFAS	5198	broad.mit.edu	37	chr17	8172074	8172074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaacctgtctgggcgctaCgagtctcgctgggccagcgt	6	8	13	14	4	2	0	0	0	2	0	3	1	2	0	2	2	3	2	2	2	2	1	rs150119860		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:8172074C>T	ENST00000314666.6	+	27	3739	c.3606C>T	c.(3604-3606)taC>taT	p.Y1202Y	PFAS_ENST00000545834.1_Silent_p.Y778Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1202	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGGGCGCTACGAGTCTCGCT	0.701													38	5					0	0	0	0	T	8172074	C	T	8172074	2	4	149	1	0	0	0	0	0	0	0	1	11826	547	19	1		1	PFAS	17	8172074	Silent	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	593671	8172074	73023136	139	27655											
KRT33A	3883	broad.mit.edu	37	chr17	39504890	39504890	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggacagctcggtctcatAtctgtgatcacaggagggtc	9	9	13	10	1	3	1	2	1	2	0	6	3	3	3	0	4	1	1	0	4	1	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:39504890A>G	ENST00000007735.3	-	3	477	c.431_splice	c.e3-1	p.Y145_splice		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	145	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TCGGTCTCATATCTGTGATCA	0.572													158	42					0	0	0	0	G	39504890	A	G	39504890	5	3	149	1	0	0	0	0	0	0	1	0	8521	463	16	5	801	5	KRT33A	17	39504890	Splice_Site	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	31332816	39504890	41690320	140	27656											
TBKBP1	9755	broad.mit.edu	37	chr17	45774515	45774516	+	Frame_Shift_Del	DEL	CT	CT	-																															tgatccaggcctacgagaaaCtctgcgtggagaagagtgac																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:45774515_45774516delCT	ENST00000361722.3	+	3	1258_1259	c.409_410delCT	c.(409-411)cfs	p.L137fs		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	137					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						CTACGAGAAACTCTGCGTGGAG	0.569													13	13	---	---	---	---					-	45774516	CT	-	45774515	7	5	149	1	0	1	0	1	0	0	0	0	15732	565	20	0	419	0	TBKBP1	17	45774515	Frame_Shift_Del	DEL	CT	TCGA-CQ-6225-01A-11D-1912-08	6269625	45774515	35420695	141	27657											
EME1	146956	broad.mit.edu	37	chr17	48453432	48453432	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccatctgttgcagtgctcTtacagatggaaggtgggggc	7	12	14	8	0	2	1	0	0	2	1	3	2	3	2	1	4	3	3	1	4	2	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:48453432T>G	ENST00000393271.2	+	3	863	c.781T>G	c.(781-783)Tta>Gta	p.L261V	EME1_ENST00000338165.4_Missense_Mutation_p.L261V|EME1_ENST00000511648.2_Missense_Mutation_p.L261V	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	261					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGCAGTGCTCTTACAGATGGA	0.567								Direct reversal of damage;Homologous recombination					5	73					0	0	0	0	G	48453432	T	G	48453432	3	3	149	1	0	0	0	0	1	0	0	0	5126	1606	56	5	787	5	EME1	17	48453432	Missense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	2678917	48453432	32741778	142	27658											
SPAG9	9043	broad.mit.edu	37	chr17	49074037	49074037	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttgttctctgcgtgaGgctaaactagcttcagttct	6	17	8	10	1	4	1	1	1	3	0	5	1	4	1	0	1	3	4	0	1	3	7			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:49074037G>T	ENST00000262013.7	-	16	2065	c.1857C>A	c.(1855-1857)gcC>gcA	p.A619A	SPAG9_ENST00000510283.1_Silent_p.A462A|SPAG9_ENST00000357122.4_Silent_p.A605A|SPAG9_ENST00000505279.1_Silent_p.A609A	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	619					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCTGCGTGAGGCTAAACTAG	0.408													18	29					4.63292e-17	5.64638e-17	1	0	T	49074037	G	T	49074037	2	4	149	1	0	0	0	0	0	0	0	1	15075	987	35	4		4	SPAG9	17	49074037	Silent	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	620605	49074037	32121173	143	27659											
STXBP4	252983	broad.mit.edu	37	chr17	53111543	53111543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagattttgtccaggttGccagaaacttgttttgcttg	7	19	9	6	0	0	2	0	0	0	2	1	2	1	2	2	1	3	3	2	1	2	9			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:53111543G>A	ENST00000376352.2	+	10	985	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	STXBP4_ENST00000398391.2_Missense_Mutation_p.A185T|STXBP4_ENST00000434978.2_Missense_Mutation_p.A260T|STXBP4_ENST00000299341.4_Missense_Mutation_p.A185T|STXBP4_ENST00000405898.1_Missense_Mutation_p.A260T	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	260						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TGTCCAGGTTGCCAGAAACTT	0.338													38	52					0	0	0	0	A	53111543	G	A	53111543	3	1	149	1	0	0	0	0	1	0	0	0	15445	1319	46	4	808	4	STXBP4	17	53111543	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	4037506	53111543	28083667	144	27660											
BCAS3	54828	broad.mit.edu	37	chr17	58967054	58967054	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccatttgaaatttttcAggctgctatccatgtccagg	9	14	9	9	0	1	1	1	1	0	0	3	1	3	1	3	2	2	2	3	2	2	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:58967054A>G	ENST00000589222.1	+	10	729		c.e10-1		BCAS3_ENST00000585744.1_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000588874.1_Splice_Site			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3							nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GAAATTTTTCAGGCTGCTATC	0.398													3	118					0	0	0	0	G	58967054	A	G	58967054	5	3	149	1	0	0	0	0	0	0	1	0	1356	202	7	5	694	5	BCAS3	17	58967054	Splice_Site	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	5855511	58967054	22228156	145	27661											
BIRC5	332	broad.mit.edu	37	chr17	76212844	76212844	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttgaaactggacagagaAagagccaagaacaaaattgt	18	9	9	5	0	0	4	0	1	0	3	0	6	0	5	1	1	3	0	1	1	6	3			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:76212844A>G	ENST00000301633.4	+	4	521	c.390A>G	c.(388-390)gaA>gaG	p.E130E	BIRC5_ENST00000589892.1_3'UTR|AC087645.1_ENST00000600484.1_Silent_p.L251L|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000350051.3_Silent_p.E107E|BIRC5_ENST00000374948.2_Intron	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	107					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			TGGACAGAGAAAGAGCCAAGA	0.403													30	53					0	0	0	0	G	76212844	A	G	76212844	2	3	149	1	0	0	0	0	0	0	0	1	1442	11	1	5		5	BIRC5	17	76212844	Silent	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	17245790	76212844	4982366	146	27662											
DNAH17	8632	broad.mit.edu	37	chr17	76424609	76424611	+	In_Frame_Del	DEL	CTC	CTC	-																															agtttcaaagatcctgccttCtcctcgcgggacactcccgt																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:76424609_76424611delCTC	ENST00000389840.5	-	77	12689_12691	c.12565_12567delGAG	c.(12565-12567)del	p.E4189del	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_In_Frame_Del_p.E4190del					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATCCTGCCTTCTCCTCGCGGGAC	0.596													5	8	---	---	---	---					-	76424611	CTC	-	76424609	7	5	149	1	0	1	0	1	0	0	0	0	4638	912	32	0	823	0	DNAH17	17	76424609	In_Frame_Del	DEL	CTC	TCGA-CQ-6225-01A-11D-1912-08	211765	76424609	4770601	147	27663											
RAB12	201475	broad.mit.edu	37	chr18	8633275	8633277	+	In_Frame_Del	DEL	AAG	AAG	-																															tattagtatatgatatcactAagaaggagacatttgatgat																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr18:8633275_8633277delAAG	ENST00000329286.6	+	3	659_661	c.376_378delAAG	c.(376-378)del	p.K127del		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	127					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TGATATCACTAAGAAGGAGACAT	0.384													27	135	---	---	---	---					-	8633277	AAG	-	8633275	7	5	149	1	0	1	0	1	0	0	0	0	12980	363	13	0	386	0	RAB12	18	8633275	In_Frame_Del	DEL	AAG	TCGA-CQ-6225-01A-11D-1912-08		8633275	69443973	148	27664											
SEH1L	81929	broad.mit.edu	37	chr18	12986890	12986890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacccctctggattccccacGggctggatcgagatggtcca	7	9	11	14	2	1	1	0	0	1	1	4	4	3	3	5	4	1	1	5	4	1	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr18:12986890G>A	ENST00000399892.2	+	9	1201	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GATTCCCCACGGGCTGGATCG	0.463													16	19					0	0	0	0	A	12986890	G	A	12986890	3	1	149	1	0	0	0	0	1	0	0	0	14096	1116	39	1	1151	1	SEH1L	18	12986890	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	4353615	12986890	65090358	149	27665											
RNMT	8731	broad.mit.edu	37	chr18	13737130	13737130	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaattaacaagctagtttgTactggtaagataaataatga	18	12	8	3	0	0	3	0	1	0	2	0	3	0	3	0	1	3	4	0	1	9	7			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr18:13737130T>A	ENST00000383314.2	+	5	915	c.675T>A	c.(673-675)tgT>tgA	p.C225*	RNMT_ENST00000543302.2_Nonsense_Mutation_p.C225*|RNMT_ENST00000589866.1_Nonsense_Mutation_p.C225*|RNMT_ENST00000262173.3_Nonsense_Mutation_p.C225*|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000592764.1_Nonsense_Mutation_p.C225*			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	225					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AGCTAGTTTGTACTGGTAAGA	0.343													17	15					0	0	0	0	A	13737130	T	A	13737130	4	1	149	1	0	0	0	0	0	1	0	0	13591	1644	57	5	685	5	RNMT	18	13737130	Nonsense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	750240	13737130	64340118	150	27666											
PARD6G	84552	broad.mit.edu	37	chr18	77917976	77917976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaagcccgcggtgccgtccGagggcggtcccgagctgccc	4	4	16	17	7	0	0	0	0	0	0	2	3	2	0	5	3	4	1	5	3	1	0			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr18:77917976G>A	ENST00000353265.3	-	3	1006	c.809C>T	c.(808-810)tCg>tTg	p.S270L	AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000586421.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	270					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GGTGCCGTCCGAGGGCGGTCC	0.701													5	5					0	0	0	0	A	77917976	G	A	77917976	3	1	149	1	0	0	0	0	1	0	0	0	11518	1059	37	1	325	1	PARD6G	18	77917976	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	64180846	77917976	159272	151	27667											
CACNA1A	773	broad.mit.edu	37	chr19	13411468	13411468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttcttcctcttgctcGtcctaaaaggcacgtggaat	7	14	8	12	2	3	0	0	0	3	0	6	1	5	1	2	2	1	3	2	2	3	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:13411468G>A	ENST00000360228.5	-	18	2174	c.2175C>T	c.(2173-2175)gaC>gaT	p.D725D	CACNA1A_ENST00000573710.2_Silent_p.D726D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	726				K -> KVEA (in Ref. 1; AAB61613/AAB61612).	cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCTCTTGCTCGTCCTAAAAGG	0.493													5	65					0	0	0	0	A	13411468	G	A	13411468	2	1	149	1	0	0	0	0	0	0	0	1	2563	1136	40	1		1	CACNA1A	19	13411468	Silent	SNP	G	TCGA-CQ-6225-01A-11D-1912-08		13411468	45717515	152	27668											
ZNF536	9745	broad.mit.edu	37	chr19	30936464	30936464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaggaggatgggctgcaCgtgggcctggatgagcggcg	6	5	22	8	4	0	1	0	1	0	0	0	5	0	4	1	7	2	2	1	7	0	0			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:30936464C>T	ENST00000355537.3	+	2	2142	c.1995C>T	c.(1993-1995)caC>caT	p.H665H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGGGCTGCACGTGGGCCTGG	0.692													10	46					0	0	0	0	T	30936464	C	T	30936464	2	4	149	1	0	0	0	0	0	0	0	1	18069	535	19	1		1	ZNF536	19	30936464	Silent	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	17524996	30936464	28192519	153	27669											
KIAA0355	9710	broad.mit.edu	37	chr19	34833300	34833300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaataacacctggcccaacCgtgaccaaagtgatggagtc	14	6	10	11	1	0	2	0	2	0	0	1	4	0	3	4	2	2	0	4	2	4	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:34833300C>T	ENST00000299505.6	+	10	3334	c.2461C>T	c.(2461-2463)Cgt>Tgt	p.R821C		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	821										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CTGGCCCAACCGTGACCAAAG	0.522													62	84					0	0	0	0	T	34833300	C	T	34833300	3	4	149	1	0	0	0	0	1	0	0	0	8221	652	23	1	2495	1	KIAA0355	19	34833300	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	3896836	34833300	24295683	154	27670											
FAM187B	148109	broad.mit.edu	37	chr19	35719283	35719283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatactgcaccacttggcGgccattcttgttccagcagt	7	13	8	13	1	2	0	1	0	1	0	3	0	3	0	3	2	3	3	3	2	1	6			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:35719283G>T	ENST00000324675.3	-	1	349	c.301C>A	c.(301-303)Cgc>Agc	p.R101S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	101						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						ACCACTTGGCGGCCATTCTTG	0.512													43	64					3.54561e-26	4.48471e-26	1	0	T	35719283	G	T	35719283	3	4	149	1	0	0	0	0	1	0	0	0	5555	1116	39	3	816	3	FAM187B	19	35719283	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	885983	35719283	23409700	155	27671											
ZNF382	84911	broad.mit.edu	37	chr19	37118397	37118397	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagttcttcagttgtaagtCaaacctcattgtccatcaga	12	13	7	9	0	5	1	4	0	1	1	6	2	6	1	2	0	1	3	2	0	3	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:37118397C>G	ENST00000435416.1	+	3	3090	c.1595C>G	c.(1594-1596)tCa>tGa	p.S532*	ZNF382_ENST00000292928.2_Nonsense_Mutation_p.S533*|ZNF382_ENST00000423582.1_Nonsense_Mutation_p.S484*|ZNF382_ENST00000439428.1_Nonsense_Mutation_p.S532*			Q96SR6	ZN382_HUMAN	zinc finger protein 382	533	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTTGTAAGTCAAACCTCATT	0.383													16	26					0	0	0	0	G	37118397	C	G	37118397	4	3	149	1	0	0	0	0	0	1	0	0	17968	838	29	2	1608	2	ZNF382	19	37118397	Nonsense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	1399114	37118397	22010586	156	27672											
DEDD2	162989	broad.mit.edu	37	chr19	42719365	42719374	+	Frame_Shift_Del	DEL	GAAGAGCTGG	GAAGAGCTGG	-																															agctaccctctgtcctctttGaagagctggaggtgccatag																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:42719365_42719374delGAAGAGCTGG	ENST00000595337.1	-	3	446_455	c.359_368delCCAGCTCTTC	c.(358-369)tafs	p.SSSS120fs	DEDD2_ENST00000596251.1_Frame_Shift_Del_p.SSSS120fs|DEDD2_ENST00000598727.1_Frame_Shift_Del_p.SSSS120fs|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Frame_Shift_Del_p.SSSS120fs	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	120					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				TGTCCTCTTTGAAGAGCTGGAGGTGCCATA	0.567													10	98	---	---	---	---					-	42719374	GAAGAGCTGG	-	42719365	7	5	149	1	0	1	0	1	0	0	0	0	4417	1294	45	0	624	0	DEDD2	19	42719365	Frame_Shift_Del	DEL	GAAGAGCTGG	TCGA-CQ-6225-01A-11D-1912-08	5600968	42719365	16409618	157	27673											
ZNF229	7772	broad.mit.edu	37	chr19	44933285	44933285	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatggatgtggaggtcGgagctccggccaaagctctt	7	10	14	10	2	2	1	0	1	2	0	4	4	3	4	2	5	2	2	2	5	1	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:44933285G>T	ENST00000291187.4	-	6	1975	c.1653C>A	c.(1651-1653)tcC>tcA	p.S551S	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.S557S	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGAGGTCGGAGCTCCGGC	0.542													45	28					2.13384e-23	2.67015e-23	1	0	T	44933285	G	T	44933285	2	4	149	1	0	0	0	0	0	0	0	1	17877	1103	39	3		3	ZNF229	19	44933285	Silent	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	2213920	44933285	14195698	158	27674											
POLD1	5424	broad.mit.edu	37	chr19	50906794	50906794	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaccccgacgtgatcacCggttacaacatccagaactt	12	8	8	13	3	1	2	1	1	0	1	2	4	2	3	4	2	3	1	4	2	3	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:50906794C>G	ENST00000440232.2	+	10	1235	c.1182C>G	c.(1180-1182)acC>acG	p.T394T	POLD1_ENST00000595904.1_Silent_p.T394T|POLD1_ENST00000599857.1_Silent_p.T394T	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	394					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACGTGATCACCGGTTACAACA	0.617								DNA polymerases (catalytic subunits)					55	82					0	0	0	0	G	50906794	C	G	50906794	2	3	149	1	0	0	0	0	0	0	0	1	12262	639	23	3		3	POLD1	19	50906794	Silent	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	5973509	50906794	8222189	159	27675											
ZNF845	91664	broad.mit.edu	37	chr19	53854072	53854072	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgtttatattttctagaTatctcttccaaatgcatgat	10	19	6	6	0	2	2	0	1	2	1	4	2	3	2	1	1	1	2	1	1	5	8			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:53854072T>A	ENST00000458035.1	+	4	261	c.142_splice	c.e4-1	p.D48_splice	ZNF845_ENST00000595091.1_Splice_Site_p.D48_splice	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTTTCTAGATATCTCTTCCA	0.338													12	92					0	0	0	0	A	53854072	T	A	53854072	5	1	149	1	0	0	0	0	0	0	1	0	18284	1420	49	5	154	5	ZNF845	19	53854072	Splice_Site	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	2947278	53854072	5274911	160	27676											
CNOT3	4849	broad.mit.edu	37	chr19	54656721	54656721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgagacactcttcttcatCttctactatctggaggtaca	10	13	6	12	1	6	1	1	0	5	1	6	3	6	2	1	2	2	1	1	2	3	6			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:54656721C>G	ENST00000406403.1	+	15	3625	c.2022C>G	c.(2020-2022)atC>atG	p.I674M	CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.I674M|CNOT3_ENST00000358389.3_Missense_Mutation_p.I493M			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	674					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTTCTTCATCTTCTACTATC	0.682													42	129					0	0	0	0	G	54656721	C	G	54656721	3	3	149	1	0	0	0	0	1	0	0	0	3650	903	32	2	2080	2	CNOT3	19	54656721	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	802649	54656721	4472262	161	27677											
LILRB5	10990	broad.mit.edu	37	chr19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtggtgggggtggggAggcctgggggcctggagagg	5	5	26	5	1	0	1	0	0	0	1	0	4	0	3	2	11	1	0	2	11	1	0			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607													3	43					0	0	0	0	G	54754843	A	G	54754843	3	3	149	1	0	0	0	0	1	0	0	0	8848	319	11	5		5	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-CQ-6225-01A-11D-1912-08	98122	54754843	4374140	162	27678											
RBCK1	10616	broad.mit.edu	37	chr20	408138	408138	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgcctgctctgcaaggTggggcctgcagggactcccc	6	7	13	15	0	1	0	0	0	1	0	2	1	2	1	4	4	5	3	4	4	2	0			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:408138T>C	ENST00000356286.5	+	9	1914		c.e9+2		RBCK1_ENST00000353660.3_Splice_Site|RBCK1_ENST00000382181.2_Splice_Site	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1						interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CTCTGCAAGGTGGGGCCTGCA	0.572													4	74					0	0	0	0	C	408138	T	C	408138	5	2	149	1	0	0	0	0	0	0	1	0	13189	1710	59	5	1264	5	RBCK1	20	408138	Splice_Site	SNP	T	TCGA-CQ-6225-01A-11D-1912-08		408138	62617382	163	27679											
SIRPB1	10326	broad.mit.edu	37	chr20	1559072	1559072	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacacagtagtaggtgccGgcgtctgctggggtgatgtt	6	12	15	8	2	2	1	1	1	1	0	2	1	2	1	1	4	2	4	1	4	2	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:1559072G>C	ENST00000381605.4	-	2	409	c.345C>G	c.(343-345)gcC>gcG	p.A115A	SIRPB1_ENST00000262929.5_Silent_p.A114A|SIRPB1_ENST00000381603.3_Silent_p.A115A|RP4-576H24.4_ENST00000564763.1_Silent_p.A115A	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	115	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGTAGGTGCCGGCGTCTGCTG	0.532													42	196					0	0	0	0	C	1559072	G	C	1559072	2	2	149	1	0	0	0	0	0	0	0	1	14421	1103	39	3		3	SIRPB1	20	1559072	Silent	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	1150934	1559072	61466448	164	27680											
DEFB123	245936	broad.mit.edu	37	chr20	30028525	30028525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctccttttgctgactttGactgtgctgctgctcttatc	5	17	8	11	0	1	2	0	2	1	0	3	2	2	2	1	0	5	5	1	0	2	4			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:30028525G>C	ENST00000376309.3	+	1	204	c.24G>C	c.(22-24)ttG>ttC	p.L8F		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	8					defense response to bacterium	extracellular region				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCTGACTTTGACTGTGCTGC	0.542													147	232					0	0	0	0	C	30028525	G	C	30028525	3	2	149	1	0	0	0	0	1	0	0	0	4445	1281	45	2	26	2	DEFB123	20	30028525	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	28469453	30028525	32996995	165	27681											
XKR7	343702	broad.mit.edu	37	chr20	30584797	30584797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtagtggcctccagctttgCgctgggcatattcttcatgt	5	14	11	11	2	2	0	1	0	1	0	3	0	3	0	2	2	2	4	2	2	2	5			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:30584797C>T	ENST00000217299.3	+	3	1451	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	426						integral to membrane		p.A426V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCCAGCTTTGCGCTGGGCATA	0.582													39	40					0	0	0	0	T	30584797	C	T	30584797	3	4	149	1	0	0	0	0	1	0	0	0	17532	768	27	1	1287	1	XKR7	20	30584797	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	556272	30584797	32440723	166	27682											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31980046	31980046	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggtctgctcagccttcTccctagagagatcaaaggag	11	9	11	10	0	4	3	2	0	2	3	5	5	4	4	2	2	2	1	2	2	2	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:31980046T>C	ENST00000357886.4	-	5	599	c.446A>G	c.(445-447)gAg>gGg	p.E149G	CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.E59G|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.E149G|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.E149G|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.E149G			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	149	CDK5 activation inhibition.|MTTase N-terminal.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTCAGCCTTCTCCCTAGAGAG	0.478													4	86					0	0	0	0	C	31980046	T	C	31980046	3	2	149	1	0	0	0	0	1	0	0	0	3174	1551	54	5	1357	5	CDK5RAP1	20	31980046	Missense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	1395249	31980046	31045474	167	27683											
RPN2	6185	broad.mit.edu	37	chr20	35852325	35852325	+	Missense_Mutation	SNP	T	T	G																															gttggcatcacaaatgttgaTctttccaccgtggataagga																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:35852325T>G	ENST00000237530.6	+	10	1448	c.1137T>G	c.(1135-1137)gaT>gaG	p.D379E	RPN2_ENST00000373622.5_Missense_Mutation_p.D347E	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	379					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CAAATGTTGATCTTTCCACCG	0.488													3	66					0	0	0	0	G	35852325	T	G	35852325	3	3	149	1	0	0	0	0	1	0	0	0	13693	1432	50	5	1175	5	RPN2	20	35852325	Missense_Mutation	SNP	T	TCGA-CQ-6225-01A-11D-1912-08	3872279	35852325	27173195	168	27684	220	2									
RPN2	6185	broad.mit.edu	37	chr20	35852326	35852326	+	Missense_Mutation	SNP	C	C	T																															ttggcatcacaaatgttgatCtttccaccgtggataaggat																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:35852326C>T	ENST00000237530.6	+	10	1449	c.1138C>T	c.(1138-1140)Ctt>Ttt	p.L380F	RPN2_ENST00000373622.5_Missense_Mutation_p.L348F	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	380					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AAATGTTGATCTTTCCACCGT	0.488													3	66					0	0	0	0	T	35852326	C	T	35852326	3	4	149	1	0	0	0	0	1	0	0	0	13693	913	32	2	1176	2	RPN2	20	35852326	Missense_Mutation	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	1	35852326	27173194	169	27685	220	2									
SRC	6714	broad.mit.edu	37	chr20	36012655	36012655	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgggggcgctttcccCgcctcgcagacccccagcaa	5	5	13	18	4	0	1	0	0	0	1	2	1	1	1	5	3	1	4	5	3	1	1			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:36012655C>T	ENST00000373578.2	+	4	448	c.99C>T	c.(97-99)ccC>ccT	p.P33P	SRC_ENST00000358208.4_Silent_p.P33P|SRC_ENST00000445403.1_Silent_p.P33P|SRC_ENST00000373558.2_Silent_p.P33P|SRC_ENST00000373567.2_Silent_p.P33P|SRC_ENST00000360723.4_Silent_p.P33P	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	33					axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GCGCTTTCCCCGCCTCGCAGA	0.751													11	6					0	0	0	0	T	36012655	C	T	36012655	2	4	149	1	0	0	0	0	0	0	0	1	15224	639	23	1		1	SRC	20	36012655	Silent	SNP	C	TCGA-CQ-6225-01A-11D-1912-08	160329	36012655	27012865	170	27686											
ELMO2	63916	broad.mit.edu	37	chr20	45003021	45003021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcattttggtgagctcaatgGcactgcggccaaaggggcat	9	9	14	9	1	1	1	1	1	0	0	1	1	1	1	1	5	2	4	1	5	2	2			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:45003021G>A	ENST00000372176.1	-	15	1433	c.965C>T	c.(964-966)gCc>gTc	p.A322V	ELMO2_ENST00000439931.2_Missense_Mutation_p.A422V|ELMO2_ENST00000445496.2_Missense_Mutation_p.A227V|ELMO2_ENST00000454865.2_Missense_Mutation_p.A142V|ELMO2_ENST00000352077.2_Missense_Mutation_p.A408V|ELMO2_ENST00000396391.1_Missense_Mutation_p.A410V|ELMO2_ENST00000290246.6_Missense_Mutation_p.A410V			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	410	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GAGCTCAATGGCACTGCGGCC	0.512													36	45					0	0	0	0	A	45003021	G	A	45003021	3	1	149	1	0	0	0	0	1	0	0	0	5104	1203	42	4	965	4	ELMO2	20	45003021	Missense_Mutation	SNP	G	TCGA-CQ-6225-01A-11D-1912-08	8990366	45003021	18022499	171	27687											
ITSN1	6453	broad.mit.edu	37	chr21	35208857	35208859	+	In_Frame_Del	DEL	AGG	AGG	-																															gaggaccctgactggtggaaAggagaagtcaatggacaagt																										TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr21:35208857_35208859delAGG	ENST00000381318.3	+	29	3870_3872	c.3582_3584delAGG	c.(3580-3585)aaa>aa	p.KG1194del	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399352.1_In_Frame_Del_p.KG1189del|ITSN1_ENST00000399353.1_In_Frame_Del_p.KG1152del|ITSN1_ENST00000399349.1_In_Frame_Del_p.KG1118del|ITSN1_ENST00000399355.2_In_Frame_Del_p.KG1123del|ITSN1_ENST00000381285.4_In_Frame_Del_p.KG1194del|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_In_Frame_Del_p.KG1189del|ITSN1_ENST00000399367.3_In_Frame_Del_p.KG1189del|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000381291.4_In_Frame_Del_p.KG1194del	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1194	SH3 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.G1195A(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACTGGTGGAAAGGAGAAGTCAAT	0.532													28	17	---	---	---	---					-	35208859	AGG	-	35208857	7	5	149	1	0	1	0	1	0	0	0	0	7979	69	3	0	3692	0	ITSN1	21	35208857	In_Frame_Del	DEL	AGG	TCGA-CQ-6225-01A-11D-1912-08		35208857	12921038	172	27688											
DVL1	1855	broad.mit.edu	37	chr1	1273937	1273937	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatggtgatcttgagccacAtgcggtcgcggatctccagt	7	10	13	11	4	2	2	0	2	2	0	4	4	2	3	2	3	2	0	2	3	0	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:1273937A>C	ENST00000378888.5	-	12	1588	c.1304T>G	c.(1303-1305)aTg>aGg	p.M435R	DVL1_ENST00000378891.5_Missense_Mutation_p.M410R			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	435	DEP.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTTGAGCCACATGCGGTCGCG	0.672													10	41					0	0	0	0	C	1273937	A	C	1273937	3	2	150	1	0	0	0	0	1	0	0	0	4871	217	8	5	799	5	DVL1	1	1273937	Missense_Mutation	SNP	A	TCGA-CQ-6227-01A-11D-1912-08		1273937	247976684	1	27689											
DNAJC11	55735	broad.mit.edu	37	chr1	6699997	6699997	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaggtatggtttgatgatCagacggtgcatggcaaagta	11	11	14	5	1	1	4	1	3	0	1	1	4	1	4	0	4	1	5	0	4	3	3			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:6699997C>G	ENST00000377577.5	-	11	1341	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	DNAJC11_ENST00000542246.1_Silent_p.L368L|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Intron|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377573.5_Silent_p.L316L	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	406					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTGATGATCAGACGGTGCA	0.522													6	27					0	0	0	0	G	6699997	C	G	6699997	2	3	150	1	0	0	0	0	0	0	0	1	4666	813	29	2		2	DNAJC11	1	6699997	Silent	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	5426060	6699997	242550624	2	27690											
UBIAD1	29914	broad.mit.edu	37	chr1	11345928	11345928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacgctggccatcctcatcGgccccacgttctcctacatt	6	11	6	18	3	3	0	2	0	1	0	6	0	4	0	5	2	1	2	5	2	1	3			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:11345928G>A	ENST00000376810.5	+	2	1083	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	253					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		CATCCTCATCGGCCCCACGTT	0.607													13	93					0	0	0	0	A	11345928	G	A	11345928	3	1	150	1	0	0	0	0	1	0	0	0	16981	1116	39	1	763	1	UBIAD1	1	11345928	Missense_Mutation	SNP	G	TCGA-CQ-6227-01A-11D-1912-08	4645931	11345928	237904693	3	27691											
HSPG2	3339	broad.mit.edu	37	chr1	22169810	22169810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggaatgggtcctgggctgGagggctcaattgtgaccagg	8	8	17	8	0	1	1	1	1	0	0	2	3	2	3	2	6	0	2	2	6	2	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:22169810G>A	ENST00000374695.3	-	66	8817	c.8738C>T	c.(8737-8739)tCc>tTc	p.S2913F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2913	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCCTGGGCTGGAGGGCTCAAT	0.632													10	46					0	0	0	0	A	22169810	G	A	22169810	3	1	150	1	0	0	0	0	1	0	0	0	7483	1174	41	2	4565	2	HSPG2	1	22169810	Missense_Mutation	SNP	G	TCGA-CQ-6227-01A-11D-1912-08	10823882	22169810	227080811	4	27692											
CDC7	8317	broad.mit.edu	37	chr1	91978847	91978847	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcacaaattcagattaaaCaaggaaaagacggaaaggtt	20	7	9	5	1	1	2	1	0	0	2	1	4	1	4	0	3	2	2	0	3	7	3			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:91978847C>A	ENST00000428239.1	+	7	1064	c.805C>A	c.(805-807)Caa>Aaa	p.Q269K	CDC7_ENST00000430031.2_Missense_Mutation_p.Q241K|CDC7_ENST00000234626.6_Missense_Mutation_p.Q269K	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	269	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		TCAGATTAAACAAGGAAAAGA	0.403													4	29					1.23904e-05	3.95693e-05	1	0	A	91978847	C	A	91978847	3	1	150	1	0	0	0	0	1	0	0	0	3113	479	17	4	827	4	CDC7	1	91978847	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	69809037	91978847	157271774	5	27693											
FCRL5	83416	broad.mit.edu	37	chr1	157494060	157494060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgctgctggtgggcagggCccactcacctgcaactttca	6	10	12	13	0	2	0	2	0	0	0	2	0	2	0	2	3	4	4	2	3	1	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:157494060C>T	ENST00000368190.3	-	10	2340	c.2248G>A	c.(2248-2250)Gcc>Acc	p.A750T	FCRL5_ENST00000356953.4_Intron|FCRL5_ENST00000368191.3_Missense_Mutation_p.A665T|FCRL5_ENST00000361835.3_Intron			Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	0						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTGGGCAGGGCCCACTCACCT	0.552													7	28					0	0	0	0	T	157494060	C	T	157494060	3	4	150	1	0	0	0	0	1	0	0	0	5843	754	26	4		4	FCRL5	1	157494060	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	65515213	157494060	91756561	6	27694											
LAD1	3898	broad.mit.edu	37	chr1	201358343	201358343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgagcctgggagcctcatCgtccgtggtggagctcaggt	5	9	16	11	2	2	1	2	1	0	0	4	3	3	3	3	4	3	2	3	4	0	0	rs138881525		TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:201358343C>T	ENST00000391967.2	-	2	428	c.127G>A	c.(127-129)Gat>Aat	p.D43N	LAD1_ENST00000367313.3_Missense_Mutation_p.D57N	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	43						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGAGCCTCATCGTCCGTGGTG	0.642													8	34					0	0	0	0	T	201358343	C	T	201358343	3	4	150	1	0	0	0	0	1	0	0	0	8652	884	31	1	1462	1	LAD1	1	201358343	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	43864283	201358343	47892278	7	27695											
CYP1B1	1545	broad.mit.edu	37	chr2	38302533	38302533	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaggctggtgcccatgCtggggacagagaggagaagg	9	5	20	7	0	0	3	0	1	0	2	0	6	0	4	1	7	2	3	1	7	1	0			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr2:38302533C>T	ENST00000260630.3	-	2	401		c.e2-1		CYP1B1_ENST00000407341.1_Splice_Site|CYP1B1_ENST00000494864.1_Intron	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1						visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GGTGCCCATGCTGGGGACAGA	0.667													7	40					0	0	0	0	T	38302533	C	T	38302533	5	4	150	1	0	0	0	0	0	0	1	0	4183	811	28	4	1640	4	CYP1B1	2	38302533	Splice_Site	SNP	C	TCGA-CQ-6227-01A-11D-1912-08		38302533	204896840	8	27696											
DUSP2	1844	broad.mit.edu	37	chr2	96809654	96809654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggcgctgcttaacgaagtCaaaggcctcgtccagccgca	9	6	11	15	5	1	0	1	0	0	0	3	1	2	0	4	2	3	3	4	2	3	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr2:96809654C>T	ENST00000288943.4	-	4	938	c.853G>A	c.(853-855)Gac>Aac	p.D285N		NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	285	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				TTAACGAAGTCAAAGGCCTCG	0.622													7	21					0	0	0	0	T	96809654	C	T	96809654	3	4	150	1	0	0	0	0	1	0	0	0	4855	826	29	2	95	2	DUSP2	2	96809654	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	58507121	96809654	146389719	9	27697											
DNAH7	56171	broad.mit.edu	37	chr2	196729451	196729451	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacaagacaaggttcatggGttttttgcttatattgttgt	11	17	9	4	0	1	1	1	0	0	1	1	1	1	1	0	2	2	4	0	2	5	8			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr2:196729451G>C	ENST00000312428.6	-	41	7028	c.6928C>G	c.(6928-6930)Ccc>Gcc	p.P2310A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2310	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGTTCATGGGTTTTTTGCTT	0.433													7	104					0	0	0	0	C	196729451	G	C	196729451	3	2	150	1	0	0	0	0	1	0	0	0	4642	1261	44	4	5246	4	DNAH7	2	196729451	Missense_Mutation	SNP	G	TCGA-CQ-6227-01A-11D-1912-08	99919797	196729451	46469922	10	27698											
PARP3	10039	broad.mit.edu	37	chr3	51978492	51978492	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatttcgggaaaagacCaagaacaactgggcagagcg	18	4	12	7	2	0	4	0	0	0	4	1	5	0	5	1	2	3	1	1	2	7	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr3:51978492C>A	ENST00000417220.2	+	5	887	c.399C>A	c.(397-399)acC>acA	p.T133T	PARP3_ENST00000398755.3_Silent_p.T140T|PARP3_ENST00000431474.1_Silent_p.T133T			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	133					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGGAAAAGACCAAGAACAACT	0.517													29	107					7.01153e-11	2.39359e-10	1	0	A	51978492	C	A	51978492	2	1	150	1	0	0	0	0	0	0	0	1	11533	581	21	4		4	PARP3	3	51978492	Silent	SNP	C	TCGA-CQ-6227-01A-11D-1912-08		51978492	146043938	11	27699											
TRIM42	287015	broad.mit.edu	37	chr3	140401851	140401851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccaccacccatccagcCgcatcatcgagtactgccgc	9	6	7	19	3	1	0	1	0	0	0	4	1	3	0	6	0	3	3	6	0	1	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr3:140401851C>T	ENST00000286349.3	+	2	1080	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	297						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCCATCCAGCCGCATCATCGA	0.552													7	39					0	0	0	0	T	140401851	C	T	140401851	3	4	150	1	0	0	0	0	1	0	0	0	16612	652	23	1	895	1	TRIM42	3	140401851	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	88423359	140401851	57620579	12	27700											
BCHE	590	broad.mit.edu	37	chr3	165547361	165547361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctactcaaaatttcctcGgcttttgtgtaattatctct	9	18	5	9	1	3	0	1	0	2	0	6	1	4	0	1	1	1	2	1	1	5	6	rs74458984		TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr3:165547361G>A	ENST00000264381.3	-	2	1627	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	487					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AAATTTCCTCGGCTTTTGTGT	0.403													20	53					0	0	0	0	A	165547361	G	A	165547361	2	1	150	1	0	0	0	0	0	0	0	1	1362	1103	39	1		1	BCHE	3	165547361	Silent	SNP	G	TCGA-CQ-6227-01A-11D-1912-08	25145510	165547361	32475069	13	27701											
CCKAR	886	broad.mit.edu	37	chr4	26483643	26483643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggccatcaggttggctgCggagctgttactccggatgc	5	11	14	11	2	1	0	1	0	0	0	2	2	2	2	2	5	4	4	2	5	1	3			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr4:26483643C>T	ENST00000295589.3	-	5	1098	c.904G>A	c.(904-906)Gca>Aca	p.A302T		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	302					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGTTGGCTGCGGAGCTGTTA	0.612													25	123					0	0	0	0	T	26483643	C	T	26483643	3	4	150	1	0	0	0	0	1	0	0	0	2907	768	27	1	386	1	CCKAR	4	26483643	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08		26483643	164670633	14	27702											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860847	27860847	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggtgcactcgtcctacAggaaattggagcccagctct	9	8	12	12	2	1	0	0	0	1	0	3	2	2	2	2	4	4	2	2	4	2	2			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr6:27860847A>G	ENST00000359611.2	-	1	116	c.81T>C	c.(79-81)ccT>ccC	p.P27P	HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	27					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CTCGTCCTACAGGAAATTGGA	0.647													12	54					0	0	0	0	G	27860847	A	G	27860847	2	3	150	1	0	0	0	0	0	0	0	1	7189	175	7	5		5	HIST1H2AM	6	27860847	Silent	SNP	A	TCGA-CQ-6227-01A-11D-1912-08		27860847	143254220	15	27703											
IP6K3	117283	broad.mit.edu	37	chr6	33690810	33690810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgacagagaggagggccCggagctggtgcaggatgggc	10	5	19	7	1	0	2	0	1	0	1	0	6	0	5	1	6	2	2	1	6	1	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr6:33690810C>T	ENST00000451316.1	-	7	1455	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	IP6K3_ENST00000293756.4_Missense_Mutation_p.R307Q	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	307					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GAGGAGGGCCCGGAGCTGGTG	0.552													4	38					0	0	0	0	T	33690810	C	T	33690810	3	4	150	1	0	0	0	0	1	0	0	0	7843	652	23	1	316	1	IP6K3	6	33690810	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	5829963	33690810	137424257	16	27704											
AQP1	358	broad.mit.edu	37	chr7	30951738	30951738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtgggccacatcagcGgcgcccacctcaacccggct	8	5	12	16	3	2	1	2	0	0	1	2	1	2	1	4	3	2	1	4	3	1	0			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr7:30951738G>A	ENST00000311813.4	+	1	269	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	AQP1_ENST00000509504.1_Missense_Mutation_p.G249S|AQP1_ENST00000434909.2_Missense_Mutation_p.G132S	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				CCACATCAGCGGCGCCCACCT	0.657													6	50					0	0	0	0	A	30951738	G	A	30951738	3	1	150	1	0	0	0	0	1	0	0	0	823	1116	39	1	216	1	AQP1	7	30951738	Missense_Mutation	SNP	G	TCGA-CQ-6227-01A-11D-1912-08		30951738	128186925	17	27705											
TRIM50	135892	broad.mit.edu	37	chr7	72730600	72730600	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagccttttccacacggTcagcttgatgtcagcctggt	8	11	11	11	1	2	2	2	1	0	1	3	3	3	2	3	2	3	1	3	2	1	3			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr7:72730600T>C	ENST00000333149.2	-	6	1038	c.838A>G	c.(838-840)Acc>Gcc	p.T280A	TRIM50_ENST00000453152.1_Missense_Mutation_p.T280A	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	280	B30.2/SPRY.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						TTCCACACGGTCAGCTTGATG	0.617													8	42					0	0	0	0	C	72730600	T	C	72730600	3	2	150	1	0	0	0	0	1	0	0	0	16621	1667	58	5	633	5	TRIM50	7	72730600	Missense_Mutation	SNP	T	TCGA-CQ-6227-01A-11D-1912-08	41778862	72730600	86408063	18	27706											
SLC13A4	26266	broad.mit.edu	37	chr7	135390963	135390963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcagcacggcctccaCgatgggcatcaccatggcgg	7	6	12	16	3	1	0	1	0	0	0	3	1	3	0	4	4	2	3	4	4	0	0			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr7:135390963C>T	ENST00000354042.4	-	4	1140	c.451G>A	c.(451-453)Gtg>Atg	p.V151M		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	151						integral to plasma membrane	sodium:sulfate symporter activity	p.V151M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						ACGGCCTCCACGATGGGCATC	0.612													10	59					0	0	0	0	T	135390963	C	T	135390963	3	4	150	1	0	0	0	0	1	0	0	0	14482	536	19	1	1481	1	SLC13A4	7	135390963	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	62660363	135390963	23747700	19	27707											
KIAA0196	9897	broad.mit.edu	37	chr8	126067886	126067886	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagatgccttcagtaaaaaTggaaatagcatgagtaagct	17	10	9	5	0	1	2	1	1	0	1	1	3	1	3	1	1	3	4	1	1	7	5			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr8:126067886T>C	ENST00000318410.7	-	17	2393	c.2044A>G	c.(2044-2046)Att>Gtt	p.I682V	KIAA0196_ENST00000517845.1_Missense_Mutation_p.I534V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	682					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TCAGTAAAAATGGAAATAGCA	0.383													29	113					0	0	0	0	C	126067886	T	C	126067886	3	2	150	1	0	0	0	0	1	0	0	0	8212	1464	51	5	1487	5	KIAA0196	8	126067886	Missense_Mutation	SNP	T	TCGA-CQ-6227-01A-11D-1912-08		126067886	20296136	20	27708											
TEK	7010	broad.mit.edu	37	chr9	27220064	27220064	+	Frame_Shift_Del	DEL	G	G	-																															caggaggcacaccctactgcGggatgacttgtgcagaactc																										TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr9:27220064delG	ENST00000380036.4	+	21	3563	c.3121delG	c.(3121-3123)ggfs	p.G1041fs	TEK_ENST00000406359.4_Frame_Shift_Del_p.G998fs|TEK_ENST00000519097.1_Frame_Shift_Del_p.G893fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1041	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ACCCTACTGCGGGATGACTTG	0.527													27	89	---	---	---	---					-	27220064	G	-	27220064	7	5	150	1	0	1	0	1	0	0	0	0	15845	1116	39	0	3203	0	TEK	9	27220064	Frame_Shift_Del	DEL	G	TCGA-CQ-6227-01A-11D-1912-08		27220064	113993367	21	27709											
ZNF618	114991	broad.mit.edu	37	chr9	116750680	116750680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgaggcctcgctgagtgccGagcaaggaacgatgacggag	10	4	16	11	5	0	2	0	2	0	0	1	7	0	4	3	3	3	2	3	3	2	0			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr9:116750680G>C	ENST00000288466.7	+	3	256	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	ZNF618_ENST00000374126.5_Missense_Mutation_p.E53Q	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCTGAGTGCCGAGCAAGGAAC	0.612													6	22					0	0	0	0	C	116750680	G	C	116750680	3	2	150	1	0	0	0	0	1	0	0	0	18137	1059	37	3	167	3	ZNF618	9	116750680	Missense_Mutation	SNP	G	TCGA-CQ-6227-01A-11D-1912-08	89530616	116750680	24462751	22	27710											
CALCA	796	broad.mit.edu	37	chr11	14990412	14990412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtcgctggacatatccCttttctttccaggtgctcca	7	13	7	14	1	1	0	0	0	1	0	5	1	4	1	4	2	1	2	4	2	2	4			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr11:14990412C>T	ENST00000331587.4	-	4	477	c.359G>A	c.(358-360)aGg>aAg	p.R120K	CALCB_ENST00000523376.1_Intron|CALCA_ENST00000361010.3_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.R120K|CALCA_ENST00000359642.3_Missense_Mutation_p.R120K|CALCA_ENST00000486207.1_Intron	NM_001741.2	NP_001732.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	123					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	GGACATATCCCTTTTCTTTCC	0.493													22	97					0	0	0	0	T	14990412	C	T	14990412	3	4	150	1	0	0	0	0	1	0	0	0	2600	681	24	4	234	4	CALCA	11	14990412	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08		14990412	120016104	23	27711											
FGF19	9965	broad.mit.edu	37	chr11	69518109	69518109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggccacggtccgcagagCgactgccttgatctccagca	8	7	12	14	3	1	2	0	1	1	1	3	4	2	2	4	2	3	2	4	2	0	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr11:69518109C>T	ENST00000294312.3	-	2	1021	c.256G>A	c.(256-258)Gct>Act	p.A86T		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	86					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GTCCGCAGAGCGACTGCCTTG	0.677													5	19					0	0	0	0	T	69518109	C	T	69518109	3	4	150	1	0	0	0	0	1	0	0	0	5892	768	27	1	402	1	FGF19	11	69518109	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	54527697	69518109	65488407	24	27712											
CLPB	81570	broad.mit.edu	37	chr11	72145270	72145270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccccaagtggcagccgcGaggcatttggtatcgaagcg	8	7	14	12	5	0	0	0	0	0	0	2	2	1	0	3	3	2	3	3	3	3	2			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr11:72145270G>T	ENST00000437826.2	-	1	156	c.7C>A	c.(7-9)Cgc>Agc	p.R3S	CLPB_ENST00000445069.2_Intron|CLPB_ENST00000340729.5_Silent_p.L83L|CLPB_ENST00000294053.3_Silent_p.L83L|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000538039.1_Silent_p.L83L			Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	0					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGGCAGCCGCGAGGCATTTGG	0.692											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	45					1.10923e-09	3.66046e-09	1	0	T	72145270	G	T	72145270	3	4	150	1	0	0	0	0	1	0	0	0	3581	1045	37	3	1942	3	CLPB	11	72145270	Missense_Mutation	SNP	G	TCGA-CQ-6227-01A-11D-1912-08	2627161	72145270	62861246	25	27713											
SLCO2B1	11309	broad.mit.edu	37	chr11	74904300	74904300	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaccctacgccacccCatcttcctgctggtggtcct	5	10	8	18	1	1	1	0	0	1	1	3	1	3	1	6	2	3	2	6	2	1	2			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr11:74904300C>T	ENST00000289575.5	+	9	1508	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	SLCO2B1_ENST00000428359.2_Silent_p.P349P|SLCO2B1_ENST00000531756.1_Silent_p.P116P|SLCO2B1_ENST00000454962.2_Silent_p.P144P|SLCO2B1_ENST00000341411.4_Silent_p.P144P|SLCO2B1_ENST00000525650.1_Silent_p.P227P|SLCO2B1_ENST00000532236.1_Silent_p.P255P	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	371					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TACGCCACCCCATCTTCCTGC	0.627													19	80					0	0	0	0	T	74904300	C	T	74904300	2	4	150	1	0	0	0	0	0	0	0	1	14815	581	21	4		4	SLCO2B1	11	74904300	Silent	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	2759030	74904300	60102216	26	27714											
GPRC5A	9052	broad.mit.edu	37	chr12	13061574	13061574	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggaggaagcccctttccCtgttggtgattctgggtctg	4	12	16	9	0	2	1	0	1	2	0	3	3	3	3	3	5	1	1	3	5	1	3			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr12:13061574C>T	ENST00000014914.5	+	2	1281	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	131						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GCCCCTTTCCCTGTTGGTGAT	0.522													48	183					0	0	0	0	T	13061574	C	T	13061574	2	4	150	1	0	0	0	0	0	0	0	1	6774	680	24	4		4	GPRC5A	12	13061574	Silent	SNP	C	TCGA-CQ-6227-01A-11D-1912-08		13061574	120790321	27	27715											
OR10AD1	121275	broad.mit.edu	37	chr12	48596393	48596393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctgaggaggaggctttgCtgaggatggtggccaggatg	8	8	19	6	0	0	2	0	2	0	0	0	7	0	6	2	7	1	2	2	7	0	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr12:48596393C>T	ENST00000310248.2	-	1	777	c.683G>A	c.(682-684)aGc>aAc	p.S228N		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GGAGGCTTTGCTGAGGATGGT	0.507													7	41					0	0	0	0	T	48596393	C	T	48596393	3	4	150	1	0	0	0	0	1	0	0	0	10967	797	28	4	274	4	OR10AD1	12	48596393	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	35534819	48596393	85255502	28	27716											
HOXC6	3223	broad.mit.edu	37	chr12	54422634	54422634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttagttctgagcagggcaGgactgcgccccaggaccaga	9	8	13	11	1	1	2	0	1	1	1	1	4	1	4	3	3	2	3	3	3	1	3			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr12:54422634G>T	ENST00000394331.3	+	2	1793	c.83G>T	c.(82-84)aGg>aTg	p.R28M	HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.R110M	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	110					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAGCAGGGCAGGACTGCGCCC	0.468													10	110					2.74318e-10	9.20593e-10	1	0	T	54422634	G	T	54422634	3	4	150	1	0	0	0	0	1	0	0	0	7365	1000	35	4	331	4	HOXC6	12	54422634	Missense_Mutation	SNP	G	TCGA-CQ-6227-01A-11D-1912-08	5826241	54422634	79429261	29	27717											
ACIN1	22985	broad.mit.edu	37	chr14	23532678	23532678	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgctctgcaggtgggggcaAggccacctctactgacacct	8	8	12	13	0	2	1	0	1	2	0	2	1	2	1	3	4	3	3	3	4	2	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr14:23532678A>T	ENST00000262710.1	-	13	3205	c.2878T>A	c.(2878-2880)Ttg>Atg	p.L960M	ACIN1_ENST00000557515.1_Missense_Mutation_p.L201M|ACIN1_ENST00000338631.6_Missense_Mutation_p.L233M|ACIN1_ENST00000397341.3_Missense_Mutation_p.L202M|ACIN1_ENST00000555053.1_Missense_Mutation_p.L947M|ACIN1_ENST00000457657.1_Missense_Mutation_p.L920M|ACIN1_ENST00000357481.2_Missense_Mutation_p.L202M|ACIN1_ENST00000605057.1_Missense_Mutation_p.L902M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	960					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGTGGGGGCAAGGCCACCTCT	0.517													18	44					0	0	0	0	T	23532678	A	T	23532678	3	4	150	1	0	0	0	0	1	0	0	0	142	69	3	5	1175	5	ACIN1	14	23532678	Missense_Mutation	SNP	A	TCGA-CQ-6227-01A-11D-1912-08		23532678	83816862	30	27718											
SLC7A8	23428	broad.mit.edu	37	chr14	23609754	23609754	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taggcaaaggagccctgaagGaaagccagtgcgacgaggcc	13	3	15	10	2	0	1	0	1	0	0	0	5	0	3	3	4	3	1	3	4	4	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr14:23609754G>A	ENST00000316902.7	-	5	1439	c.714C>T	c.(712-714)ttC>ttT	p.F238F	SLC7A8_ENST00000469263.1_Silent_p.F238F|SLC7A8_ENST00000453702.1_Silent_p.F35F|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000529705.2_Silent_p.F133F|SLC7A8_ENST00000422941.2_Intron	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	238					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AGCCCTGAAGGAAAGCCAGTG	0.502													13	164					0	0	0	0	A	23609754	G	A	23609754	2	1	150	1	0	0	0	0	0	0	0	1	14792	1165	41	2		2	SLC7A8	14	23609754	Silent	SNP	G	TCGA-CQ-6227-01A-11D-1912-08	77076	23609754	83739786	31	27719											
KCNH5	27133	broad.mit.edu	37	chr14	63468148	63468148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttcatttcttattggtgCaatttgcatataaaaccaaa	14	16	5	6	0	2	0	1	0	1	0	2	0	2	0	1	1	3	3	1	1	6	7			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr14:63468148C>T	ENST00000322893.7	-	4	602	c.334G>A	c.(334-336)Gca>Aca	p.A112T	KCNH5_ENST00000394964.2_Missense_Mutation_p.A54T|KCNH5_ENST00000420622.2_Missense_Mutation_p.A112T|KCNH5_ENST00000394968.1_Missense_Mutation_p.A54T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	112	PAC.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTATTGGTGCAATTTGCATA	0.423													4	20					0	0	0	0	T	63468148	C	T	63468148	3	4	150	1	0	0	0	0	1	0	0	0	8088	710	25	4	2698	4	KCNH5	14	63468148	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	39858394	63468148	43881392	32	27720											
EXD2	55218	broad.mit.edu	37	chr14	69701570	69701570	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagggtgtggtcgacatcCcatttcgaagcaaaggaatg	11	8	13	9	2	0	0	0	0	0	0	3	3	1	1	2	3	1	1	2	3	3	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr14:69701570C>G	ENST00000409014.1	+	7	1153	c.496C>G	c.(496-498)Cca>Gca	p.P166A	EXD2_ENST00000409242.1_Missense_Mutation_p.P166A|EXD2_ENST00000409675.1_Missense_Mutation_p.P166A|EXD2_ENST00000409949.1_Missense_Mutation_p.P166A|EXD2_ENST00000449989.1_Missense_Mutation_p.P166A|EXD2_ENST00000312994.5_Missense_Mutation_p.P291A|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409018.3_Missense_Mutation_p.P291A	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	166					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGTCGACATCCCATTTCGAAG	0.443													9	45					0	0	0	0	G	69701570	C	G	69701570	3	3	150	1	0	0	0	0	1	0	0	0	5335	623	22	4	506	4	EXD2	14	69701570	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	6233422	69701570	37647970	33	27721											
DMXL2	23312	broad.mit.edu	37	chr15	51741321	51741321	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactccagccccaatgtttcGaaatatggactgcttagcat	11	11	8	11	1	0	0	0	0	0	0	2	3	1	1	3	1	3	3	3	1	4	3			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr15:51741321G>A	ENST00000251076.5	-	43	9258	c.8971C>T	c.(8971-8973)Cga>Tga	p.R2991*	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.R2992*|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.R2355*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2991						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.R2991*(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCAATGTTTCGAAATATGGAC	0.438													6	43					0	0	0	0	A	51741321	G	A	51741321	4	1	150	1	0	0	0	0	0	1	0	0	4632	1066	37	1	143	1	DMXL2	15	51741321	Nonsense_Mutation	SNP	G	TCGA-CQ-6227-01A-11D-1912-08		51741321	50790071	34	27722											
SLC28A1	9154	broad.mit.edu	37	chr15	85488064	85488064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctcagcagcagtagctttGagatttaccagtgctgccgt	8	11	10	12	1	1	1	1	1	0	1	1	2	1	1	3	0	6	5	3	0	2	4			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr15:85488064G>C	ENST00000394573.1	+	18	2042	c.1840G>C	c.(1840-1842)Gag>Cag	p.E614Q	SLC28A1_ENST00000537624.1_Missense_Mutation_p.E614Q|SLC28A1_ENST00000538177.1_Missense_Mutation_p.E448Q|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.E614Q	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	614					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGTAGCTTTGAGATTTACCA	0.592													14	48					0	0	0	0	C	85488064	G	C	85488064	3	2	150	1	0	0	0	0	1	0	0	0	14619	1291	45	2	1973	2	SLC28A1	15	85488064	Missense_Mutation	SNP	G	TCGA-CQ-6227-01A-11D-1912-08	33746743	85488064	17043328	35	27723											
TUFM	7284	broad.mit.edu	37	chr16	28855381	28855381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggccccgaggttatctcCggcctcggccctctccaggc	4	7	12	18	3	2	0	0	0	2	0	5	1	2	0	6	5	0	1	6	5	1	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr16:28855381C>T	ENST00000313511.3	-	8	1102	c.964G>A	c.(964-966)Gga>Aga	p.G322R		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	319						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						AGGTTATCTCCGGCCTCGGCC	0.607													10	59					0	0	0	0	T	28855381	C	T	28855381	3	4	150	1	0	0	0	0	1	0	0	0	16867	661	23	1	415	1	TUFM	16	28855381	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08		28855381	61499372	36	27724											
MYLK3	91807	broad.mit.edu	37	chr16	46766444	46766444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggggcttggaggcagcGcccggtcccaggtgggccct	4	5	17	15	2	0	0	0	0	0	0	1	1	1	1	4	7	1	2	4	7	0	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr16:46766444G>A	ENST00000394809.4	-	4	1253	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C	MYLK3_ENST00000536476.1_Missense_Mutation_p.R39C	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	380					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGGAGGCAGCGCCCGGTCCCA	0.687													7	25					0	0	0	0	A	46766444	G	A	46766444	3	1	150	1	0	0	0	0	1	0	0	0	10128	1087	38	1	1361	1	MYLK3	16	46766444	Missense_Mutation	SNP	G	TCGA-CQ-6227-01A-11D-1912-08	17911063	46766444	43588309	37	27725											
KIAA0100	9703	broad.mit.edu	37	chr17	26968962	26968962	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctggcacagcagttggctCtggaagaggccctcatgcag	8	7	13	13	0	2	1	1	0	1	1	2	2	2	2	2	4	2	5	2	4	1	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr17:26968962C>G	ENST00000528896.2	-	7	785	c.711G>C	c.(709-711)caG>caC	p.Q237H	KIAA0100_ENST00000389003.3_Missense_Mutation_p.Q94H|KIAA0100_ENST00000544884.1_Missense_Mutation_p.Q94H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	237						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCAGTTGGCTCTGGAAGAGGC	0.547													15	63					0	0	0	0	G	26968962	C	G	26968962	3	3	150	1	0	0	0	0	1	0	0	0	8205	912	32	2	6128	2	KIAA0100	17	26968962	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08		26968962	54226248	38	27726											
THRA	7067	broad.mit.edu	37	chr17	38245690	38245690	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccactcttcctcgaggtctTtgaggatcaggaagtctaaa	10	11	9	11	1	4	1	1	1	3	0	6	4	5	3	2	3	0	0	2	3	3	3			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr17:38245690T>G	ENST00000450525.2	+	9	1705	c.1214T>G	c.(1213-1215)tTt>tGt	p.F405C	THRA_ENST00000264637.4_Intron|THRA_ENST00000584985.1_Intron|THRA_ENST00000546243.1_Missense_Mutation_p.F405C|THRA_ENST00000394121.4_Intron	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	0					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CTCGAGGTCTTTGAGGATCAG	0.637													8	29					0	0	0	0	G	38245690	T	G	38245690	3	3	150	1	0	0	0	0	1	0	0	0	15967	1841	64	5	1244	5	THRA	17	38245690	Missense_Mutation	SNP	T	TCGA-CQ-6227-01A-11D-1912-08	11276728	38245690	42949520	39	27727											
EVPL	2125	broad.mit.edu	37	chr17	74006565	74006565	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctctccctgcttgggcAgggctctcggagccctgctt	3	11	12	15	1	2	0	0	0	2	0	5	2	3	1	2	3	3	4	2	3	0	2			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr17:74006565A>G	ENST00000301607.3	-	22	2974	c.2721T>C	c.(2719-2721)ccT>ccC	p.P907P	EVPL_ENST00000586740.1_Silent_p.P929P	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	907	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTGCTTGGGCAGGGCTCTCGG	0.642													10	34					0	0	0	0	G	74006565	A	G	74006565	2	3	150	1	0	0	0	0	0	0	0	1	5330	175	7	5		5	EVPL	17	74006565	Silent	SNP	A	TCGA-CQ-6227-01A-11D-1912-08	35760875	74006565	7188645	40	27728											
B3GNT3	10331	broad.mit.edu	37	chr19	17918902	17918902	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgccactttcccctgctgCaggacgtgcccccctctaag	5	8	9	19	2	1	0	0	0	1	0	2	1	2	1	7	1	3	2	7	1	1	2			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr19:17918902C>T	ENST00000318683.6	+	2	433	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	B3GNT3_ENST00000595387.1_Nonsense_Mutation_p.Q96*	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	96					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TCCCCTGCTGCAGGACGTGCC	0.637													4	27					0	0	0	0	T	17918902	C	T	17918902	4	4	150	1	0	0	0	0	0	1	0	0	1262	711	25	4	288	4	B3GNT3	19	17918902	Nonsense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08		17918902	41210081	41	27729											
ZNF568	374900	broad.mit.edu	37	chr19	37440779	37440779	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgacctcattagacatgagCgaattcatgctggagagaaa	14	10	10	7	1	2	4	2	2	0	2	2	7	2	5	1	1	2	1	1	1	3	3			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr19:37440779C>T	ENST00000415168.1	+	5	908	c.532C>T	c.(532-534)Cga>Tga	p.R178*	ZNF568_ENST00000333987.7_Nonsense_Mutation_p.R242*|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGACATGAGCGAATTCATGC	0.378													7	46					0	0	0	0	T	37440779	C	T	37440779	4	4	150	1	0	0	0	0	0	1	0	0	18094	760	27	1	742	1	ZNF568	19	37440779	Nonsense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	19521877	37440779	21688204	42	27730											
TBC1D17	79735	broad.mit.edu	37	chr19	50385367	50385367	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctctctccaactccttccaCcacctgcagctctttgacca	7	11	4	19	0	2	1	0	1	2	0	6	1	5	1	6	0	3	3	6	0	1	2			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr19:50385367C>T	ENST00000221543.5	+	6	896	c.597C>T	c.(595-597)caC>caT	p.H199H	TBC1D17_ENST00000535102.2_Silent_p.H166H	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	199						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		ACTCCTTCCACCACCTGCAGC	0.647													12	260					0	0	0	0	T	50385367	C	T	50385367	2	4	150	1	0	0	0	0	0	0	0	1	15697	506	18	4		4	TBC1D17	19	50385367	Silent	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	12944588	50385367	8743616	43	27731											
SHANK1	50944	broad.mit.edu	37	chr19	51200915	51200915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctctttgccttgtcactgCggctttctgcagggtgacaa	5	14	11	11	1	3	1	1	1	2	0	4	1	3	1	1	2	3	2	1	2	1	3			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr19:51200915C>T	ENST00000293441.1	-	13	1886	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H	SHANK1_ENST00000391814.1_Missense_Mutation_p.R623H|SHANK1_ENST00000359082.3_Missense_Mutation_p.R623H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	623					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTTGTCACTGCGGCTTTCTGC	0.547													11	82					0	0	0	0	T	51200915	C	T	51200915	3	4	150	1	0	0	0	0	1	0	0	0	14352	768	27	1	4661	1	SHANK1	19	51200915	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	815548	51200915	7928068	44	27732											
ZNF17	7565	broad.mit.edu	37	chr19	57931031	57931031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggagccaaggatgaggaGgcaccttccaagcaatgtgt	12	7	13	9	0	0	1	0	1	0	0	1	4	1	4	3	4	2	2	3	4	3	1			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr19:57931031G>A	ENST00000596400.1	+	4	299	c.207G>A	c.(205-207)gaG>gaA	p.69_69insE	ZNF17_ENST00000307658.7_Silent_p.E59E|ZNF17_ENST00000595206.1_3'UTR|AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Silent_p.E57E																							AGGATGAGGAGGCACCTTCCA	0.493													16	65					0	0	0	0	A	57931031	G	A	57931031	3	1	150	1	0	0	0	0	1	0	0	0	17838	991	35	4	181	4	ZNF17	19	57931031	Missense_Mutation	SNP	G	TCGA-CQ-6227-01A-11D-1912-08	6730116	57931031	1197952	45	27733											
WFDC8	90199	broad.mit.edu	37	chr20	44180733	44180733	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccaccaatgggcactcctCatcctgcaggcacttgggtt	7	11	9	14	0	1	0	1	0	0	0	4	0	4	0	4	3	1	4	4	3	1	3			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr20:44180733C>G	ENST00000357199.4	-	6	736	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	WFDC8_ENST00000289953.2_Missense_Mutation_p.E220Q	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	220	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GGGCACTCCTCATCCTGCAGG	0.423													13	89					0	0	0	0	G	44180733	C	G	44180733	3	3	150	1	0	0	0	0	1	0	0	0	17452	835	29	2	71	2	WFDC8	20	44180733	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08		44180733	18844787	46	27734											
GRIK1	2897	broad.mit.edu	37	chr21	30934006	30934006	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccgatctgagtgaggttGcagtttctctgcgtcacata	7	12	10	12	2	3	2	1	2	2	0	4	3	3	2	2	1	2	3	2	1	1	3			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr21:30934006G>T	ENST00000399914.1	-	14	2771	c.2250C>A	c.(2248-2250)tgC>tgA	p.C750*	GRIK1_ENST00000389125.3_Nonsense_Mutation_p.C750*|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.C750*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.C765*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.C765*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.C765*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.C767*|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.C765*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.C767*			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	765					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GAGTGAGGTTGCAGTTTCTCT	0.507													11	58					7.03913e-09	2.28483e-08	1	0	T	30934006	G	T	30934006	4	4	150	1	0	0	0	0	0	1	0	0	6823	1311	46	4	633	4	GRIK1	21	30934006	Nonsense_Mutation	SNP	G	TCGA-CQ-6227-01A-11D-1912-08		30934006	17195889	47	27735											
MX2	4600	broad.mit.edu	37	chr21	42754440	42754440	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccatcattgaccttccCggcatcaccagggtggctgt	7	10	10	14	1	2	2	2	2	0	0	3	2	3	2	4	3	0	2	4	3	0	2	rs145539486	byFrequency	TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr21:42754440C>T	ENST00000330714.3	+	5	865	c.681C>T	c.(679-681)ccC>ccT	p.P227P	MX2_ENST00000543692.1_Silent_p.P182P	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	227					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TTGACCTTCCCGGCATCACCA	0.602													9	78					0	0	0	0	T	42754440	C	T	42754440	2	4	150	1	0	0	0	0	0	0	0	1	10068	639	23	1		1	MX2	21	42754440	Silent	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	11820434	42754440	5375455	48	27736											
CABP7	164633	broad.mit.edu	37	chr22	30125152	30125152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acatcatcatgacggaggagGagagccacctgggcacagcc	12	4	13	12	1	2	2	2	1	0	1	2	5	2	4	3	4	2	1	3	4	0	0			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr22:30125152G>A	ENST00000216144.3	+	4	816	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	159						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			GACGGAGGAGGAGAGCCACCT	0.617													6	21					0	0	0	0	A	30125152	G	A	30125152	3	1	150	1	0	0	0	0	1	0	0	0	2560	1175	41	2	489	2	CABP7	22	30125152	Missense_Mutation	SNP	G	TCGA-CQ-6227-01A-11D-1912-08		30125152	21179414	49	27737											
MICALL1	85377	broad.mit.edu	37	chr22	38328571	38328571	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgggcaggtccaggctgaCcagtacatccctgaggagga	9	7	15	10	0	0	2	0	2	0	0	2	4	2	4	3	5	1	4	3	5	1	2			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr22:38328571C>G	ENST00000215957.6	+	11	2154	c.2028C>G	c.(2026-2028)gaC>gaG	p.D676E	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	676						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TCCAGGCTGACCAGTACATCC	0.632													14	70					0	0	0	0	G	38328571	C	G	38328571	3	3	150	1	0	0	0	0	1	0	0	0	9642	506	18	4	2070	4	MICALL1	22	38328571	Missense_Mutation	SNP	C	TCGA-CQ-6227-01A-11D-1912-08	8203419	38328571	12975995	50	27738											
AR	367	broad.mit.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	8	6	13	14	1	0	0	0	0	0	0	0	0	0	0	1	0	11	11	1	0	0	1	rs71905623		TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome				3	11					0	0	0	0	T	66765161	A	T	66765161	3	4	150	1	0	0	0	0	1	0	0	0	838	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-CQ-6227-01A-11D-1912-08		66765161	88505399	51	27739											
UBR4	23352	broad.mit.edu	37	chr1	19524242	19524242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaactgcatcttggaacCgattgatatagcgtaggaaa	15	10	9	7	2	1	1	0	1	1	0	1	4	1	3	1	2	4	2	1	2	7	6			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:19524242C>T	ENST00000375267.2	-	7	818	c.815G>A	c.(814-816)cGg>cAg	p.R272Q	UBR4_ENST00000375217.2_Missense_Mutation_p.R272Q|UBR4_ENST00000375226.2_Missense_Mutation_p.R272Q|UBR4_ENST00000375254.3_Missense_Mutation_p.R272Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	272					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATCTTGGAACCGATTGATATA	0.443													47	22					0	0	0	0	T	19524242	C	T	19524242	3	4	151	1	0	0	0	0	1	0	0	0	17000	652	23	1	15136	1	UBR4	1	19524242	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08		19524242	229726379	1	27740											
AKR7A2	8574	broad.mit.edu	37	chr1	19633547	19633547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaagcggcccacaggcTgtttcccgtccttgtcctca	8	9	9	15	2	1	1	1	0	0	1	4	1	4	1	4	2	1	2	4	2	2	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:19633547T>C	ENST00000235835.3	-	5	758	c.737A>G	c.(736-738)cAg>cGg	p.Q246R		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	246					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCACAGGCTGTTTCCCGTC	0.622													3	70					0	0	0	0	C	19633547	T	C	19633547	3	2	151	1	0	0	0	0	1	0	0	0	475	1580	55	5	354	5	AKR7A2	1	19633547	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08	109305	19633547	229617074	2	27741											
INADL	10207	broad.mit.edu	37	chr1	62234980	62234980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaattgaatatatagataTagaacggccttcaactggag	16	10	9	6	1	1	3	1	1	0	2	1	4	1	4	1	2	2	1	1	2	9	7			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:62234980T>C	ENST00000371158.2	+	5	524	c.410T>C	c.(409-411)aTa>aCa	p.I137T	INADL_ENST00000316485.6_Missense_Mutation_p.I137T	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	137	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TATATAGATATAGAACGGCCT	0.428													9	32					0	0	0	0	C	62234980	T	C	62234980	3	2	151	1	0	0	0	0	1	0	0	0	7784	1406	49	5	424	5	INADL	1	62234980	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08	42601433	62234980	187015641	3	27742											
MCOLN2	255231	broad.mit.edu	37	chr1	85403472	85403472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctaagacaatccagccaCagaatgtgtaacccagataa	16	7	7	11	0	0	3	0	0	0	3	2	3	2	3	4	0	2	1	4	0	5	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:85403472C>T	ENST00000370608.3	-	11	1368	c.1301G>A	c.(1300-1302)tGt>tAt	p.C434Y	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.C406Y	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	434						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AATCCAGCCACAGAATGTGTA	0.463													16	7					0	0	0	0	T	85403472	C	T	85403472	3	4	151	1	0	0	0	0	1	0	0	0	9465	478	17	4	415	4	MCOLN2	1	85403472	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	23168492	85403472	163847149	4	27743											
CELSR2	1952	broad.mit.edu	37	chr1	109801082	109801082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagcgtgaccgcccagtgCgcgctgcgtgtgaccatcat	7	7	12	15	5	1	2	1	2	0	0	1	2	1	2	3	0	3	1	3	0	0	0			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:109801082C>T	ENST00000271332.3	+	2	3400	c.3339C>T	c.(3337-3339)tgC>tgT	p.C1113C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1113	Cadherin 9.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCGCCCAGTGCGCGCTGCGTG	0.622													3	5					0	0	0	0	T	109801082	C	T	109801082	2	4	151	1	0	0	0	0	0	0	0	1	3251	776	27	1		1	CELSR2	1	109801082	Silent	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	24397610	109801082	139449539	5	27744											
RBM15	64783	broad.mit.edu	37	chr1	110884036	110884036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacgtcactgcgctccttCtcctgaccgcagtccagaat	10	9	7	15	3	2	2	1	1	1	1	5	2	4	2	4	0	2	2	4	0	3	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:110884036C>T	ENST00000369784.3	+	1	2909	c.2009C>T	c.(2008-2010)tCt>tTt	p.S670F	RBM15_ENST00000602849.1_Missense_Mutation_p.S670F|RBM15_ENST00000487146.2_Missense_Mutation_p.S670F	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	670	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGCGCTCCTTCTCCTGACCGC	0.557			T	MKL1	acute megakaryocytic leukemia								19	29					0	0	0	0	T	110884036	C	T	110884036	3	4	151	1	0	0	0	0	1	0	0	0	13198	913	32	2	2011	2	RBM15	1	110884036	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	1082954	110884036	138366585	6	27745											
SEC22B	9554	broad.mit.edu	37	chr1	145109769	145109770	+	RNA	INS	-	-	T																															actgatataatatttatacaINSttttttctgatgtttacttg																										TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:145109769_145109770insT	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										ATATTTATACATTTTTTCTGAT	0.332													16	122	---	---	---	---					T	145109770	-	T	145109769	6	5	151	0	1	1	1	0	0	0	0	0	14076	232	8	0		0	SEC22B	1	145109769	RNA	INS	-	TCGA-CQ-6228-01A-11D-1912-08	34225733	145109769	104140852	7	27746											
UBAP2L	9898	broad.mit.edu	37	chr1	154223543	154223543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacccaagtgattcagcaGtgcacagcccctttacaaag	14	7	8	12	0	1	2	1	1	0	1	1	2	1	2	3	0	5	2	3	0	4	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:154223543G>A	ENST00000428931.1	+	13	1407	c.1240G>A	c.(1240-1242)Gtg>Atg	p.V414M	UBAP2L_ENST00000343815.6_Missense_Mutation_p.V414M|UBAP2L_ENST00000271877.7_Missense_Mutation_p.V425M|UBAP2L_ENST00000361546.2_Missense_Mutation_p.V414M	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	414					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATTCAGCAGTGCACAGCCC	0.483													32	54					0	0	0	0	A	154223543	G	A	154223543	3	1	151	1	0	0	0	0	1	0	0	0	16934	1029	36	4	1286	4	UBAP2L	1	154223543	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	9113774	154223543	95027078	8	27747											
IQGAP3	128239	broad.mit.edu	37	chr1	156510539	156510539	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccagcaggccaatcttGatgtccatgatgttgaggtc	9	12	10	10	0	2	3	1	3	1	0	4	3	3	3	3	2	1	2	3	2	1	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:156510539G>T	ENST00000361170.2	-	23	2710	c.2700C>A	c.(2698-2700)atC>atA	p.I900I		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	900					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCAATCTTGATGTCCATGA	0.562													30	31					3.73148e-12	6.84956e-12	1	0	T	156510539	G	T	156510539	2	4	151	1	0	0	0	0	0	0	0	1	7869	1280	45	2		2	IQGAP3	1	156510539	Silent	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	2286996	156510539	92740082	9	27748											
FCRL4	83417	broad.mit.edu	37	chr1	157559108	157559108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggtcagggtcaacttttCtccccagtagtgccgatgat	7	12	12	10	1	3	1	2	1	1	0	4	2	3	1	3	3	2	1	3	3	2	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:157559108C>T	ENST00000271532.1	-	3	328	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	65	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GTCAACTTTTCTCCCCAGTAG	0.517													8	53					0	0	0	0	T	157559108	C	T	157559108	3	4	151	1	0	0	0	0	1	0	0	0	5842	922	32	2	1394	2	FCRL4	1	157559108	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	1048569	157559108	91691513	10	27749											
CD5L	922	broad.mit.edu	37	chr1	157805833	157805833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcacaacacagccacgtcCttaatgtcccagccgtcatc	10	7	7	17	3	1	0	1	0	0	0	4	0	3	0	4	1	3	1	4	1	2	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:157805833C>A	ENST00000368174.4	-	3	264	c.168G>T	c.(166-168)aaG>aaT	p.K56N	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	56	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGCCACGTCCTTAATGTCCC	0.612													6	167					0.00116845	0.00199454	1	0	A	157805833	C	A	157805833	3	1	151	1	0	0	0	0	1	0	0	0	3056	680	24	4	891	4	CD5L	1	157805833	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	246725	157805833	91444788	11	27750											
ADAMTS4	9507	broad.mit.edu	37	chr1	161163765	161163765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatgtggaggcagcgaccaCccatgcaggcctgtgcgggc	7	5	15	14	2	0	0	0	0	0	0	0	2	0	1	4	4	3	2	4	4	0	0			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:161163765C>T	ENST00000367996.4	-	5	1936	c.1508G>A	c.(1507-1509)gGt>gAt	p.G503D		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	503	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCAGCGACCACCCATGCAGGC	0.652													20	21					0	0	0	0	T	161163765	C	T	161163765	3	4	151	1	0	0	0	0	1	0	0	0	268	507	18	4	1025	4	ADAMTS4	1	161163765	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	3357932	161163765	88086856	12	27751											
RC3H1	149041	broad.mit.edu	37	chr1	173915954	173915954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagctccccagccaccgtGggttccatatggactataat	11	9	9	12	1	0	1	0	0	0	1	2	2	2	2	5	2	2	2	5	2	4	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:173915954G>A	ENST00000367696.2	-	16	3109	c.2758C>T	c.(2758-2760)Cac>Tac	p.H920Y	RC3H1_ENST00000367694.2_Missense_Mutation_p.H920Y|RC3H1_ENST00000258349.4_Missense_Mutation_p.H920Y			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	920					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CAGCCACCGTGGGTTCCATAT	0.368													16	35					0	0	0	0	A	173915954	G	A	173915954	3	1	151	1	0	0	0	0	1	0	0	0	13248	1348	47	4	663	4	RC3H1	1	173915954	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	12752189	173915954	75334667	13	27752											
PLEKHA6	22874	broad.mit.edu	37	chr1	204226792	204226792	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccttccactctcgcagctGgtaggcagggccacccccat	6	8	9	18	1	1	0	0	0	1	0	4	0	3	0	5	3	1	4	5	3	1	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:204226792G>A	ENST00000272203.3	-	9	1529	c.1213C>T	c.(1213-1215)Cag>Tag	p.Q405*	PLEKHA6_ENST00000414478.1_Nonsense_Mutation_p.Q425*	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	405										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCTCGCAGCTGGTAGGCAGGG	0.652													8	11					0	0	0	0	A	204226792	G	A	204226792	4	1	151	1	0	0	0	0	0	1	0	0	12132	1357	47	4	1989	4	PLEKHA6	1	204226792	Nonsense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	30310838	204226792	45023829	14	27753											
SLC41A1	254428	broad.mit.edu	37	chr1	205779508	205779508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccatctgaagagcagggaGaggcagaagggccagtcccg	11	3	17	10	1	1	4	0	1	1	3	2	5	2	4	3	4	1	2	3	4	2	0			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:205779508G>A	ENST00000367137.3	-	2	1076	c.62C>T	c.(61-63)tCt>tTt	p.S21F		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	21						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGAGCAGGGAGAGGCAGAAGG	0.612											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	39					0	0	0	0	A	205779508	G	A	205779508	3	1	151	1	0	0	0	0	1	0	0	0	14717	942	33	2	1519	2	SLC41A1	1	205779508	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	1552716	205779508	43471113	15	27754											
OR2AK2	391191	broad.mit.edu	37	chr1	248128809	248128809	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgacaggaaatatcaTgctgatccacctcattcgac	11	11	7	12	1	3	2	2	2	1	0	5	4	4	3	2	1	2	2	2	1	2	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:248128809T>C	ENST00000366480.3	+	1	275	c.176T>C	c.(175-177)aTg>aCg	p.M59T	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGAAATATCATGCTGATCCAC	0.448													18	221					0	0	0	0	C	248128809	T	C	248128809	3	2	151	1	0	0	0	0	1	0	0	0	11057	1464	51	5	178	5	OR2AK2	1	248128809	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08	42349301	248128809	1121812	16	27755											
PRKD3	23683	broad.mit.edu	37	chr2	37501741	37501741	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaacgaagtataccatagTatcagtaatgatttcaaaac	18	10	5	8	1	2	1	2	1	0	0	2	2	2	1	2	0	3	3	2	0	9	6			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:37501741T>A	ENST00000379066.1	-	11	2236	c.1474A>T	c.(1474-1476)Act>Tct	p.T492S	PRKD3_ENST00000234179.2_Missense_Mutation_p.T492S			O94806	KPCD3_HUMAN	protein kinase D3	492	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TATACCATAGTATCAGTAATG	0.423													26	28					0	0	0	0	A	37501741	T	A	37501741	3	1	151	1	0	0	0	0	1	0	0	0	12600	1638	57	5	1234	5	PRKD3	2	37501741	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08		37501741	205697632	17	27756											
ZNF638	27332	broad.mit.edu	37	chr2	71629115	71629115	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaatgtgtgtgatgcttgtCtctaatttgcctaataaagg	11	15	10	5	0	1	1	0	1	1	0	2	2	1	1	1	1	2	1	1	1	5	5			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:71629115C>G	ENST00000409544.1	+	16	3357	c.2727C>G	c.(2725-2727)gtC>gtG	p.V909V	ZNF638_ENST00000355812.3_Silent_p.V909V|ZNF638_ENST00000264447.4_Silent_p.V909V	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	909	RRM 2.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGATGCTTGTCTCTAATTTGC	0.269													18	34					0	0	0	0	G	71629115	C	G	71629115	2	3	151	1	0	0	0	0	0	0	0	1	18150	900	32	2		2	ZNF638	2	71629115	Silent	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	34127374	71629115	171570258	18	27757											
DYSF	8291	broad.mit.edu	37	chr2	71901427	71901427	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcctttgatgattttctggGtaagcgctattgctagaatc	8	16	9	8	1	1	3	0	2	1	1	3	3	2	3	1	1	2	3	1	1	4	7			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:71901427G>A	ENST00000258104.3	+	51	6044		c.e51+1		DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000479049.2_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000409744.1_Splice_Site	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin							cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GATTTTCTGGGTAAGCGCTAT	0.522													15	28					0	0	0	0	A	71901427	G	A	71901427	5	1	151	1	0	0	0	0	0	0	1	0	4895	1275	44	4	6229	4	DYSF	2	71901427	Splice_Site	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	272312	71901427	171297946	19	27758											
TUBA3E	112714	broad.mit.edu	37	chr2	130949610	130949610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccaggcctccgcaatggCcgtggtgttgctcagcatgc	5	8	14	14	2	1	0	1	0	0	0	2	0	2	0	4	4	3	4	4	4	1	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:130949610C>T	ENST00000312988.7	-	5	1247	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	383					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TCCGCAATGGCCGTGGTGTTG	0.632													48	84					0	0	0	0	T	130949610	C	T	130949610	3	4	151	1	0	0	0	0	1	0	0	0	16844	739	26	4	209	4	TUBA3E	2	130949610	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	59048183	130949610	112249763	20	27759											
RIF1	55183	broad.mit.edu	37	chr2	152266962	152266962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaggggtcagagccccCtcgcgccgctgttggagact	5	6	15	15	4	1	2	1	0	0	2	2	3	1	2	4	4	1	2	4	4	0	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:152266962C>T	ENST00000243326.4	+	1	508	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	RIF1_ENST00000433166.2_Missense_Mutation_p.L9F|RIF1_ENST00000444746.2_Missense_Mutation_p.L9F|RIF1_ENST00000430328.2_Missense_Mutation_p.L9F|RIF1_ENST00000428287.2_Missense_Mutation_p.L9F|RIF1_ENST00000453091.2_Missense_Mutation_p.L9F			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	9					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCAGAGCCCCCTCGCGCCGCT	0.652											OREG0015013	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	53					0	0	0	0	T	152266962	C	T	152266962	3	4	151	1	0	0	0	0	1	0	0	0	13442	681	24	4	27	4	RIF1	2	152266962	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	21317352	152266962	90932411	21	27760											
TTC21B	79809	broad.mit.edu	37	chr2	166764213	166764213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaatgcagtgatcgcatcaCcaagtttttccattttacta	11	15	6	9	1	1	1	1	1	0	0	3	1	2	1	2	0	2	4	2	0	4	6			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:166764213C>T	ENST00000243344.7	-	19	2680	c.2543G>A	c.(2542-2544)gGt>gAt	p.G848D		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	848						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GATCGCATCACCAAGTTTTTC	0.393													17	19					0	0	0	0	T	166764213	C	T	166764213	3	4	151	1	0	0	0	0	1	0	0	0	16784	507	18	4	1451	4	TTC21B	2	166764213	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	14497251	166764213	76435160	22	27761											
HECW2	57520	broad.mit.edu	37	chr2	197081812	197081812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattacaatatgattgtcatGgtatcctatcaaaccaatca	16	13	4	8	0	3	1	3	1	0	0	4	1	4	1	2	1	2	1	2	1	8	5			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:197081812G>A	ENST00000260983.2	-	27	4596	c.4414C>T	c.(4414-4416)Cat>Tat	p.H1472Y	HECW2_ENST00000409111.1_Missense_Mutation_p.H1116Y	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1472	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGATTGTCATGGTATCCTATC	0.388													11	100					0	0	0	0	A	197081812	G	A	197081812	3	1	151	1	0	0	0	0	1	0	0	0	7093	1348	47	4	316	4	HECW2	2	197081812	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	30317599	197081812	46117561	23	27762											
C2orf62	375307	broad.mit.edu	37	chr2	219221907	219221907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgacttcctcagctccCtccgtgagctcagacagtgt	7	10	8	16	2	2	2	2	1	0	1	6	3	5	2	4	0	2	2	4	0	0	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:219221907C>T	ENST00000289388.3	+	2	144	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	39										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCAGCTCCCTCCGTGAGCT	0.607													23	38					0	0	0	0	T	219221907	C	T	219221907	3	4	151	1	0	0	0	0	1	0	0	0	2201	681	24	4	121	4	C2orf62	2	219221907	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	22140095	219221907	23977466	24	27763											
BCS1L	617	broad.mit.edu	37	chr2	219526164	219526164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattcgggtagaacgaagtcGagagatgcagatgatagact	14	8	14	5	3	0	5	0	1	0	4	2	9	0	5	0	1	2	2	0	1	4	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:219526164G>A	ENST00000431802.1	+	3	1055	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	BCS1L_ENST00000359273.3_Missense_Mutation_p.R119Q|BCS1L_ENST00000392110.2_Missense_Mutation_p.R119Q|BCS1L_ENST00000392111.2_Missense_Mutation_p.R119Q|BCS1L_ENST00000412366.1_Missense_Mutation_p.R119Q|BCS1L_ENST00000439945.1_Missense_Mutation_p.R119Q|BCS1L_ENST00000392109.1_Missense_Mutation_p.R119Q			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	119					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAACGAAGTCGAGAGATGCAG	0.493													76	56					0	0	0	0	A	219526164	G	A	219526164	3	1	151	1	0	0	0	0	1	0	0	0	1393	1058	37	1	362	1	BCS1L	2	219526164	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	304257	219526164	23673209	25	27764											
STK36	27148	broad.mit.edu	37	chr2	219543897	219543897	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctctctgtagaacttcCtgcagggactgctcaccaaa	9	13	7	12	0	3	1	1	0	2	1	5	2	4	2	2	1	3	3	2	1	3	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:219543897C>T	ENST00000295709.3	+	7	970	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L	STK36_ENST00000440309.1_Silent_p.L231L|STK36_ENST00000392105.3_Silent_p.L231L|STK36_ENST00000392106.2_Silent_p.L231L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	231	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GTAGAACTTCCTGCAGGGACT	0.478													39	85					0	0	0	0	T	219543897	C	T	219543897	2	4	151	1	0	0	0	0	0	0	0	1	15392	680	24	4		4	STK36	2	219543897	Silent	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	17733	219543897	23655476	26	27765											
CHRND	1144	broad.mit.edu	37	chr2	233399048	233399048	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagggaccagaacaattacaAtgaggtaagggaccacagga	17	4	13	7	0	0	2	0	1	0	1	0	6	0	5	2	4	2	1	2	4	5	2	rs144433265		TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:233399048A>C	ENST00000258385.3	+	11	1399	c.1367A>C	c.(1366-1368)aAt>aCt	p.N456T	CHRND_ENST00000543200.1_Missense_Mutation_p.N441T|CHRND_ENST00000457943.2_Missense_Mutation_p.N262T	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	456					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		AACAATTACAATGAGGTAAGG	0.488													7	98					0	0	0	0	C	233399048	A	C	233399048	3	2	151	1	0	0	0	0	1	0	0	0	3423	101	4	5	1409	5	CHRND	2	233399048	Missense_Mutation	SNP	A	TCGA-CQ-6228-01A-11D-1912-08	13855151	233399048	9800325	27	27766											
USP40	55230	broad.mit.edu	37	chr2	234460155	234460155	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaaggaggcagcttacgtAatttggccgactgttaaaag	14	9	12	6	2	0	0	0	0	0	0	0	3	0	1	1	3	2	4	1	3	6	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:234460155A>C	ENST00000251722.6	-	7	821	c.704T>G	c.(703-705)tTa>tGa	p.L235*	USP40_ENST00000427112.2_Nonsense_Mutation_p.L235*|USP40_ENST00000450966.1_Nonsense_Mutation_p.L247*			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	235					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CAGCTTACGTAATTTGGCCGA	0.308													11	9					0	0	0	0	C	234460155	A	C	234460155	4	2	151	1	0	0	0	0	0	1	0	0	17168	372	13	5	3107	5	USP40	2	234460155	Nonsense_Mutation	SNP	A	TCGA-CQ-6228-01A-11D-1912-08	1061107	234460155	8739218	28	27767											
CAMK1	8536	broad.mit.edu	37	chr3	9807481	9807481	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattctccatgctgccttcCttgccctccagggcctcctt	3	14	6	18	0	2	0	1	0	1	0	6	0	5	0	7	1	3	1	7	1	0	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:9807481C>T	ENST00000256460.3	-	3	354	c.177G>A	c.(175-177)aaG>aaA	p.K59K	OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000349503.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	59	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TGCTGCCTTCCTTGCCCTCCA	0.602													29	6					0	0	0	0	T	9807481	C	T	9807481	2	4	151	1	0	0	0	0	0	0	0	1	2621	680	24	4		4	CAMK1	3	9807481	Silent	SNP	C	TCGA-CQ-6228-01A-11D-1912-08		9807481	188214949	29	27768											
IMPDH2	3615	broad.mit.edu	37	chr3	49063994	49063999	+	In_Frame_Del	DEL	TGTACT	TGTACT	-																															attagggtatttgtctttgaTgtacttgatcatattgatct																										TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:49063994_49063999delTGTACT	ENST00000326739.4	-	8	902_907	c.863_868delAGTACA	c.(862-870)atc>a	p.KYI288del		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	288					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TTGTCTTTGATGTACTTGATCATATT	0.485													7	2	---	---	---	---					-	49063999	TGTACT	-	49063994	7	5	151	1	0	1	0	1	0	0	0	0	7780	1464	51	0	704	0	IMPDH2	3	49063994	In_Frame_Del	DEL	TGTACT	TCGA-CQ-6228-01A-11D-1912-08	39256513	49063994	148958436	30	27769											
USP19	10869	broad.mit.edu	37	chr3	49151435	49151435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaagatacctccgccaaaCgcaggttctcaggcttcaca	13	7	7	14	2	2	1	2	0	1	1	4	1	3	1	3	2	2	3	3	2	3	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:49151435C>T	ENST00000453664.1	-	17	2777	c.2459G>A	c.(2458-2460)cGt>cAt	p.R820H	USP19_ENST00000417901.1_Missense_Mutation_p.R832H|USP19_ENST00000434032.2_Missense_Mutation_p.R830H|USP19_ENST00000398888.2_Missense_Mutation_p.R729H|USP19_ENST00000398892.3_Missense_Mutation_p.R769H|USP19_ENST00000398896.1_Missense_Mutation_p.R537H|USP19_ENST00000398898.2_Missense_Mutation_p.R769H	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	729					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTCCGCCAAACGCAGGTTCTC	0.512													7	21					0	0	0	0	T	49151435	C	T	49151435	3	4	151	1	0	0	0	0	1	0	0	0	17146	536	19	1	1814	1	USP19	3	49151435	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	87441	49151435	148870995	31	27770											
USP19	10869	broad.mit.edu	37	chr3	49154907	49154907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagcataggcacctttttgGgcagtgtcaggtgcaggaga	9	10	15	7	0	1	2	1	1	0	1	1	3	1	2	1	4	2	4	1	4	1	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:49154907G>T	ENST00000453664.1	-	5	887	c.569C>A	c.(568-570)cCc>cAc	p.P190H	USP19_ENST00000488993.1_5'UTR|USP19_ENST00000417901.1_Missense_Mutation_p.P190H|USP19_ENST00000434032.2_Missense_Mutation_p.P190H|USP19_ENST00000398888.2_Missense_Mutation_p.P190H|USP19_ENST00000398892.3_Missense_Mutation_p.P128H|USP19_ENST00000398896.1_5'UTR|USP19_ENST00000398898.2_Missense_Mutation_p.P128H	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	190	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCTTTTTGGGCAGTGTCAG	0.552													31	10					1.75199e-13	3.23815e-13	1	0	T	49154907	G	T	49154907	3	4	151	1	0	0	0	0	1	0	0	0	17146	1232	43	4	3475	4	USP19	3	49154907	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	3472	49154907	148867523	32	27771											
PLA1A	51365	broad.mit.edu	37	chr3	119331938	119331938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctggagatgccctcttcGtggaagccatccacacagac	10	8	10	13	1	1	2	0	0	1	2	3	4	2	3	3	2	3	1	3	2	1	1	rs140761557		TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:119331938G>A	ENST00000273371.4	+	5	709	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	PLA1A_ENST00000494440.1_Missense_Mutation_p.V197M|PLA1A_ENST00000495992.1_Missense_Mutation_p.V197M|PLA1A_ENST00000488919.1_Missense_Mutation_p.V40M	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	213				V -> T (in Ref. 4; BAD96425).	lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCCCTCTTCGTGGAAGCCAT	0.592													11	11					0	0	0	0	A	119331938	G	A	119331938	3	1	151	1	0	0	0	0	1	0	0	0	12060	1145	40	1	655	1	PLA1A	3	119331938	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	70177031	119331938	78690492	33	27772											
GOLGB1	2804	broad.mit.edu	37	chr3	121410533	121410533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgaagttgaacttcaaGaagctgcttttgttggctgt	8	16	11	6	0	1	3	1	2	0	1	1	3	1	3	0	1	4	6	0	1	4	6			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:121410533G>T	ENST00000393667.3	-	14	7788	c.7678C>A	c.(7678-7680)Ctt>Att	p.L2560I	GOLGB1_ENST00000340645.5_Missense_Mutation_p.L2555I	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2555					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGAACTTCAAGAAGCTGCTTT	0.388													88	66					3.1376e-36	6.04948e-36	1	0	T	121410533	G	T	121410533	3	4	151	1	0	0	0	0	1	0	0	0	6613	942	33	2	2152	2	GOLGB1	3	121410533	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	2078595	121410533	76611897	34	27773											
DNAJC13	23317	broad.mit.edu	37	chr3	132185174	132185174	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggcatacttggaaagctCagatctcgtacctgagaagg	11	9	12	9	1	2	2	1	1	1	2	3	4	2	3	1	3	3	4	1	3	4	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:132185174C>G	ENST00000260818.6	+	19	2248	c.2000C>G	c.(1999-2001)tCa>tGa	p.S667*	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	667							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTGGAAAGCTCAGATCTCGTA	0.378													21	57					0	0	0	0	G	132185174	C	G	132185174	4	3	151	1	0	0	0	0	0	1	0	0	4668	838	29	2	2070	2	DNAJC13	3	132185174	Nonsense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	10774641	132185174	65837256	35	27774											
C4orf50	389197	broad.mit.edu	37	chr4	5961272	5961272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgcctttttcttgcagacGttgtgcggggagacctggtt	4	14	13	10	3	1	2	0	0	1	2	2	3	2	2	3	3	2	3	3	3	0	5			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr4:5961272G>A	ENST00000531445.1	-	7	2129	c.2083C>T	c.(2083-2085)Cgt>Tgt	p.R695C	C4orf50_ENST00000324058.5_Missense_Mutation_p.R221C			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	221										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TCTTGCAGACGTTGTGCGGGG	0.587													21	32					0	0	0	0	A	5961272	G	A	5961272	3	1	151	1	0	0	0	0	1	0	0	0	2297	1145	40	1	173	1	C4orf50	4	5961272	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08		5961272	185193004	36	27775											
SLC34A2	10568	broad.mit.edu	37	chr4	25676210	25676210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccgccatcctggccGccttagccagccctggcaat	7	6	8	20	2	0	0	0	0	0	0	1	0	1	0	9	2	2	1	9	2	2	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr4:25676210G>A	ENST00000382051.3	+	12	1467	c.1417G>A	c.(1417-1419)Gcc>Acc	p.A473T	SLC34A2_ENST00000504570.1_Missense_Mutation_p.A472T|SLC34A2_ENST00000503434.1_Missense_Mutation_p.A472T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	473					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CATCCTGGCCGCCTTAGCCAG	0.607			T	ROS1	NSCLC								49	60					0	0	0	0	A	25676210	G	A	25676210	3	1	151	1	0	0	0	0	1	0	0	0	14656	1087	38	1	1459	1	SLC34A2	4	25676210	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	19714938	25676210	165478066	37	27776											
NPFFR2	10886	broad.mit.edu	37	chr4	72994497	72994497	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttgtgcatgatgggaaaTactgtggtttgctttattgt	7	20	11	3	0	0	1	0	1	0	0	0	2	0	2	0	2	3	3	0	2	3	7			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr4:72994497T>G	ENST00000308744.6	+	2	593	c.495T>G	c.(493-495)aaT>aaG	p.N165K	NPFFR2_ENST00000395999.1_Missense_Mutation_p.N66K|NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000358749.3_Missense_Mutation_p.N63K	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	165					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)			TGATGGGAAATACTGTGGTTT	0.358													40	51					0	0	0	0	G	72994497	T	G	72994497	3	3	151	1	0	0	0	0	1	0	0	0	10648	1403	49	5	507	5	NPFFR2	4	72994497	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08	47318287	72994497	118159779	38	27777											
PRMT10	90826	broad.mit.edu	37	chr4	148559781	148559781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgggattatctaaaacaaCtgcagcttgtttccagtggg	11	12	11	7	0	1	0	0	0	1	0	2	2	2	1	1	2	4	3	1	2	4	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr4:148559781C>T	ENST00000322396.6	-	12	2682	c.2440G>A	c.(2440-2442)Gtt>Att	p.V814I	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.V701I	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	814						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TCTAAAACAACTGCAGCTTGT	0.413													20	20					0	0	0	0	T	148559781	C	T	148559781	3	4	151	1	0	0	0	0	1	0	0	0	12616	565	20	4	101	4	PRMT10	4	148559781	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	75565284	148559781	42594495	39	27778											
KLHL2	11275	broad.mit.edu	37	chr4	166238995	166238995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagtttgtgcagttaatGgtctgttatatgttgttgga	9	17	13	2	0	1	0	0	0	1	0	1	2	1	2	0	3	1	6	0	3	4	6			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr4:166238995G>T	ENST00000226725.6	+	14	1886	c.1627G>T	c.(1627-1629)Ggt>Tgt	p.G543C	KLHL2_ENST00000514860.1_Missense_Mutation_p.G547C|KLHL2_ENST00000421009.2_Missense_Mutation_p.G446C|KLHL2_ENST00000538127.1_Missense_Mutation_p.G455C|KLHL2_ENST00000506761.1_Missense_Mutation_p.G377C|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	543					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TGCAGTTAATGGTCTGTTATA	0.348													26	12					5.61819e-17	1.06033e-16	1	0	T	166238995	G	T	166238995	3	4	151	1	0	0	0	0	1	0	0	0	8426	1348	47	4	1723	4	KLHL2	4	166238995	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	17679214	166238995	24915281	40	27779											
IRX4	50805	broad.mit.edu	37	chr5	1879828	1879828	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgatggccagcatgaTcttctcgcccttggtggggt	5	12	15	9	1	2	3	0	3	2	0	3	3	2	3	2	5	1	1	2	5	0	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:1879828T>C	ENST00000505790.1	-	5	982	c.526A>G	c.(526-528)Atc>Gtc	p.I176V	IRX4_ENST00000231357.2_Missense_Mutation_p.I176V|IRX4_ENST00000513692.1_Missense_Mutation_p.I176V|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	176					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCCAGCATGATCTTCTCGCCC	0.642													35	53					0	0	0	0	C	1879828	T	C	1879828	3	2	151	1	0	0	0	0	1	0	0	0	7899	1435	50	5	1041	5	IRX4	5	1879828	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08		1879828	179035432	41	27780											
DNAH5	1767	broad.mit.edu	37	chr5	13830247	13830247	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaataatggaaatttgctggGctgcaaccgagagaactggt	13	9	13	6	1	0	1	0	0	0	1	0	5	0	2	1	3	4	3	1	3	5	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:13830247G>C	ENST00000265104.4	-	37	6241	c.6137C>G	c.(6136-6138)gCc>gGc	p.A2046G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2046	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATTTGCTGGGCTGCAACCGA	0.383									Kartagener syndrome				20	20					0	0	0	0	C	13830247	G	C	13830247	3	2	151	1	0	0	0	0	1	0	0	0	4641	1203	42	4	7909	4	DNAH5	5	13830247	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	11950419	13830247	167085013	42	27781											
IL7R	3575	broad.mit.edu	37	chr5	35876219	35876219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactagaagaatctgagaaGcagaggcttggaggggatgt	14	7	15	5	0	1	4	0	1	1	4	1	7	1	6	0	4	2	2	0	4	5	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:35876219G>T	ENST00000303115.3	+	8	1140	c.1011G>T	c.(1009-1011)aaG>aaT	p.K337N	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	337					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AATCTGAGAAGCAGAGGCTTG	0.488			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						15	38					4.14922e-12	7.56456e-12	1	0	T	35876219	G	T	35876219	3	4	151	1	0	0	0	0	1	0	0	0	7758	962	34	4	1041	4	IL7R	5	35876219	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	22045972	35876219	145039041	43	27782											
ELL2	22936	broad.mit.edu	37	chr5	95242283	95242283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgattgacaccatctttctGgagtctagcaagtagctccg	9	13	9	10	1	3	2	0	2	3	0	4	3	4	3	2	1	2	3	2	1	3	5			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:95242283G>T	ENST00000237853.4	-	5	1034	c.685C>A	c.(685-687)Cag>Aag	p.Q229K	ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	229					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CCATCTTTCTGGAGTCTAGCA	0.502													14	122					4.3838e-07	7.67881e-07	1	0	T	95242283	G	T	95242283	3	4	151	1	0	0	0	0	1	0	0	0	5101	1357	47	4	1269	4	ELL2	5	95242283	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	59366064	95242283	85672977	44	27783											
FBN2	2201	broad.mit.edu	37	chr5	127670501	127670501	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcacattccccaaacaTgcagatatttgaatttaggt	12	14	6	9	0	1	2	1	1	1	1	3	2	2	2	2	1	2	2	2	1	4	6			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:127670501T>A	ENST00000508053.1	-	37	4983	c.4009A>T	c.(4009-4011)Atg>Ttg	p.M1337L	FBN2_ENST00000507835.1_Missense_Mutation_p.M187L|FBN2_ENST00000508989.1_Missense_Mutation_p.M1304L|FBN2_ENST00000262464.4_Missense_Mutation_p.M1337L			P35556	FBN2_HUMAN	fibrillin 2	1337	EGF-like 21; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCCCAAACATGCAGATATTT	0.378													27	37					0	0	0	0	A	127670501	T	A	127670501	3	1	151	1	0	0	0	0	1	0	0	0	5748	1464	51	5	4869	5	FBN2	5	127670501	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08	32428218	127670501	53244759	45	27784											
PRELID1	27166	broad.mit.edu	37	chr5	176732933	176732933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggctggactgaaatccGccgggaagcctgggtctcct	7	8	14	12	2	1	1	0	1	1	0	3	3	2	3	4	4	1	1	4	4	2	0			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:176732933G>T	ENST00000303204.4	+	3	592	c.380G>T	c.(379-381)cGc>cTc	p.R127L	PRELID1_ENST00000503216.1_Missense_Mutation_p.R127L|MXD3_ENST00000427908.2_3'UTR			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	127	PRELI/MSF1.			R -> H (in Ref. 1; AAF09255).	immune response|multicellular organismal development	mitochondrion|nucleus				endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGAAATCCGCCGGGAAGCC	0.547													24	36					3.6726e-16	6.88292e-16	1	0	T	176732933	G	T	176732933	3	4	151	1	0	0	0	0	1	0	0	0	12551	1087	38	3	390	3	PRELID1	5	176732933	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	49062432	176732933	4182327	46	27785											
TDRD6	221400	broad.mit.edu	37	chr6	46656253	46656253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggaagtgctgggctgcGtgctagcgggcctggtgccg	3	8	18	12	4	0	0	0	0	0	0	1	1	0	1	3	4	5	3	3	4	2	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr6:46656253G>A	ENST00000544460.1	+	1	642	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	TDRD6_ENST00000316081.6_Missense_Mutation_p.V130M	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	130					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCTGGGCTGCGTGCTAGCGGG	0.706													5	6					0	0	0	0	A	46656253	G	A	46656253	3	1	151	1	0	0	0	0	1	0	0	0	15828	1145	40	1	390	1	TDRD6	6	46656253	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08		46656253	124458814	47	27786											
MTHFD1L	25902	broad.mit.edu	37	chr6	151293090	151293090	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacttctctaggggacacCtgtgttcgtgcatgcgggcc	5	12	12	12	2	2	0	1	0	1	0	4	1	2	1	2	3	2	2	2	3	1	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr6:151293090C>A	ENST00000367321.3	+	20	2295	c.2021C>A	c.(2020-2022)cCt>cAt	p.P674H	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	674	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TAGGGGACACCTGTGTTCGTG	0.443													17	76					1.50039e-11	2.71692e-11	1	0	A	151293090	C	A	151293090	3	1	151	1	0	0	0	0	1	0	0	0	9998	681	24	4	2099	4	MTHFD1L	6	151293090	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	104636837	151293090	19821977	48	27787											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067176	18067176	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctagctgaagcaatcttgCaggcattaatcatgatcaaa	14	10	9	8	0	3	2	2	2	1	0	3	2	3	2	0	2	3	5	0	2	5	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:18067176C>A	ENST00000506618.2	-	1	310	c.230G>T	c.(229-231)tGc>tTc	p.C77F		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	77					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGCAATCTTGCAGGCATTAAT	0.483													110	164					5.77253e-36	1.10503e-35	1	0	A	18067176	C	A	18067176	3	1	151	1	0	0	0	0	1	0	0	0	12659	710	25	4	730	4	PRPS1L1	7	18067176	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08		18067176	141071487	49	27788											
POU6F2	11281	broad.mit.edu	37	chr7	39472771	39472771	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagccaatcaccccccaGctcctcacaaacgcccaggg	10	4	8	19	1	2	0	2	0	0	0	3	0	3	0	6	1	4	2	6	1	2	0			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:39472771G>A	ENST00000518318.2	+	7	1164	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	POU6F2_ENST00000559001.1_Silent_p.Q319Q|POU6F2_ENST00000403058.1_Silent_p.Q374Q			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	374	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TCACCCCCCAGCTCCTCACAA	0.587													5	59					0	0	0	0	A	39472771	G	A	39472771	2	1	151	1	0	0	0	0	0	0	0	1	12356	962	34	4		4	POU6F2	7	39472771	Silent	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	21405595	39472771	119665892	50	27789											
NPC1L1	29881	broad.mit.edu	37	chr7	44578580	44578580	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccggattgaggggggcGtagcagatgtcctgcaggga	7	9	18	7	2	0	2	0	1	0	1	2	4	2	4	2	5	2	3	2	5	1	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:44578580G>A	ENST00000289547.4	-	2	1471	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	NPC1L1_ENST00000423141.1_Silent_p.Y472Y|NPC1L1_ENST00000546276.1_Silent_p.Y472Y|NPC1L1_ENST00000381160.3_Silent_p.Y472Y	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	472					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGAGGGGGGCGTAGCAGATGT	0.592													12	26					0	0	0	0	A	44578580	G	A	44578580	2	1	151	1	0	0	0	0	0	0	0	1	10641	1140	40	1		1	NPC1L1	7	44578580	Silent	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	5105809	44578580	114560083	51	27790											
ELN	2006	broad.mit.edu	37	chr7	73480043	73480043	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatacctccagctgcagcCgctaaagcagctaaatacgg	12	7	10	12	2	0	0	0	0	0	0	1	0	1	0	3	2	7	6	3	2	7	5			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:73480043C>T	ENST00000252034.7	+	30	2412	c.2013C>T	c.(2011-2013)gcC>gcT	p.A671A	ELN_ENST00000380575.4_Silent_p.A642A|ELN_ENST00000429192.1_Silent_p.A657A|ELN_ENST00000380553.4_Silent_p.A535A|ELN_ENST00000414324.1_Silent_p.A647A|ELN_ENST00000358929.4_Silent_p.A739A|ELN_ENST00000380562.4_Silent_p.A677A|ELN_ENST00000380584.4_Silent_p.A623A|ELN_ENST00000320399.6_Silent_p.A704A|ELN_ENST00000445912.1_Silent_p.A671A|ELN_ENST00000458204.1_Silent_p.A661A|ELN_ENST00000380576.5_Silent_p.A652A|ELN_ENST00000320492.7_Silent_p.A590A|ELN_ENST00000357036.5_Silent_p.A676A	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	733	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CAGCTGCAGCCGCTAAAGCAG	0.562			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						15	24					0	0	0	0	T	73480043	C	T	73480043	2	4	151	1	0	0	0	0	0	0	0	1	5109	639	23	1		1	ELN	7	73480043	Silent	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	28901463	73480043	85658620	52	27791											
MAGI2	9863	broad.mit.edu	37	chr7	77885383	77885383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaacaatgaggtcgccttCacacaggccagggcatccct	10	7	9	15	1	2	1	2	1	0	0	4	1	3	1	3	3	1	1	3	3	2	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:77885383C>T	ENST00000354212.4	-	10	2177	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	MAGI2_ENST00000536571.1_Missense_Mutation_p.E474K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E642K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E479K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E642K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	642	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGTCGCCTTCACACAGGCCA	0.493													10	12					0	0	0	0	T	77885383	C	T	77885383	3	4	151	1	0	0	0	0	1	0	0	0	9260	835	29	2	2495	2	MAGI2	7	77885383	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	4405340	77885383	81253280	53	27792											
PDK4	5166	broad.mit.edu	37	chr7	95224465	95224465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagaagttctttcacatgCattttctgaacctataataa	16	14	4	7	0	3	2	1	1	2	1	3	2	3	2	1	0	2	2	1	0	7	7			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:95224465C>A	ENST00000005178.5	-	2	339	c.142G>T	c.(142-144)Gca>Tca	p.A48S		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	48					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTTCACATGCATTTTCTGAA	0.318													10	25					0.000442599	0.000760363	1	0	A	95224465	C	A	95224465	3	1	151	1	0	0	0	0	1	0	0	0	11749	710	25	4	1133	4	PDK4	7	95224465	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	17339082	95224465	63914198	54	27793											
RELN	5649	broad.mit.edu	37	chr7	103179606	103179606	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacggcaacgtctgtgcTgaccacgtaacgggtgctgg	8	9	13	11	4	2	1	1	1	1	0	2	1	2	1	1	3	4	4	1	3	2	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:103179606T>C	ENST00000428762.1	-	45	7258	c.7099A>G	c.(7099-7101)Agc>Ggc	p.S2367G	RELN_ENST00000343529.5_Missense_Mutation_p.S2367G|RELN_ENST00000424685.2_Missense_Mutation_p.S2367G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2367					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACGTCTGTGCTGACCACGTAA	0.542													3	45					0	0	0	0	C	103179606	T	C	103179606	3	2	151	1	0	0	0	0	1	0	0	0	13302	1580	55	5	3367	5	RELN	7	103179606	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08	7955141	103179606	55959057	55	27794											
NRCAM	4897	broad.mit.edu	37	chr7	107880402	107880402	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttaaaacgttaatacttaCgatcaagaggtacttccagt	14	13	6	8	2	1	1	1	0	0	1	2	2	2	1	1	1	4	2	1	1	7	7			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:107880402C>T	ENST00000379028.3	-	4	577		c.e4+1		NRCAM_ENST00000425651.2_Splice_Site|NRCAM_ENST00000379022.4_Splice_Site|NRCAM_ENST00000351718.4_Splice_Site|NRCAM_ENST00000413765.2_Splice_Site|NRCAM_ENST00000379024.4_Splice_Site			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule						angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTAATACTTACGATCAAGAGG	0.453													28	42					0	0	0	0	T	107880402	C	T	107880402	5	4	151	1	0	0	0	0	0	0	1	0	10715	550	19	1	3957	1	NRCAM	7	107880402	Splice_Site	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	4700796	107880402	51258261	56	27795											
LGI3	203190	broad.mit.edu	37	chr8	22009005	22009005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agattgggcgcaggtacctgGgattctatcatagtctcgaa	10	11	12	8	2	3	1	1	0	2	1	4	3	3	2	1	3	1	2	1	3	4	5			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr8:22009005G>T	ENST00000306317.2	-	7	1115	c.826C>A	c.(826-828)Cca>Aca	p.P276T	LGI3_ENST00000424267.2_Missense_Mutation_p.P252T	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	276					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CAGGTACCTGGGATTCTATCA	0.572													5	96					2.0095e-06	3.49705e-06	1	0	T	22009005	G	T	22009005	3	4	151	1	0	0	0	0	1	0	0	0	8807	1232	43	4	828	4	LGI3	8	22009005	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08		22009005	124355017	57	27796											
TRIM55	84675	broad.mit.edu	37	chr8	67039641	67039641	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccttgtcagcacaacctGtgtaggaaatgtgccagtga	10	10	10	11	0	1	1	1	1	0	0	2	2	2	2	3	1	3	2	3	1	3	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr8:67039641G>T	ENST00000315962.4	+	1	511	c.138G>T	c.(136-138)ctG>ctT	p.L46L	TRIM55_ENST00000276573.7_Silent_p.L46L|TRIM55_ENST00000353317.5_Silent_p.L46L|TRIM55_ENST00000350034.4_Silent_p.L46L	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	46						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGCACAACCTGTGTAGGAAAT	0.463													5	206					2.7689e-08	4.91433e-08	1	0	T	67039641	G	T	67039641	2	4	151	1	0	0	0	0	0	0	0	1	16624	1364	48	4		4	TRIM55	8	67039641	Silent	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	45030636	67039641	79324381	58	27797											
CSMD3	114788	broad.mit.edu	37	chr8	113304927	113304927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaattggactaccagggtgaCcacagctaacagctaataag	16	7	9	9	0	0	1	0	1	0	0	0	2	0	2	2	2	4	2	2	2	5	5			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr8:113304927C>T	ENST00000297405.5	-	55	8871	c.8627G>A	c.(8626-8628)gGt>gAt	p.G2876D	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2806D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2836D|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2707D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2876	Sushi 19.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCAGGGTGACCACAGCTAAC	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	74					0	0	0	0	T	113304927	C	T	113304927	3	4	151	1	0	0	0	0	1	0	0	0	3978	507	18	4	2564	4	CSMD3	8	113304927	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	46265286	113304927	33059095	59	27798											
TAF1L	138474	broad.mit.edu	37	chr9	32631631	32631631	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactcctcctcctgctctTctgtcatggcaacaggtttc	6	13	6	16	0	3	0	1	0	2	0	7	0	6	0	4	2	3	3	4	2	2	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr9:32631631T>A	ENST00000242310.4	-	1	4036	c.3947A>T	c.(3946-3948)gAa>gTa	p.E1316V		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1316					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCCTGCTCTTCTGTCATGGC	0.428													119	39					0	0	0	0	A	32631631	T	A	32631631	3	1	151	1	0	0	0	0	1	0	0	0	15614	1783	62	5	1537	5	TAF1L	9	32631631	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08		32631631	108581800	60	27799											
ZBTB6	10773	broad.mit.edu	37	chr9	125673155	125673155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatggacagaggttaagtgCtttttgagagcagacttgtg	10	12	13	6	0	0	3	0	1	0	3	0	5	0	4	1	2	2	3	1	2	1	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr9:125673155C>G	ENST00000373659.3	-	2	1285	c.1197G>C	c.(1195-1197)aaG>aaC	p.K399N		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						AGGTTAAGTGCTTTTTGAGAG	0.413													4	37					0	0	0	0	G	125673155	C	G	125673155	3	3	151	1	0	0	0	0	1	0	0	0	17647	796	28	4	81	4	ZBTB6	9	125673155	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	93041524	125673155	15540276	61	27800											
UPF2	26019	broad.mit.edu	37	chr10	12001352	12001352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcttctttctcatcatttGctcctgaaataaaaagtcca	11	16	4	10	0	3	1	2	1	2	0	6	1	5	1	2	0	2	2	2	0	4	5			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr10:12001352G>T	ENST00000356352.2	-	11	2661	c.2188C>A	c.(2188-2190)Caa>Aaa	p.Q730K	UPF2_ENST00000397053.2_Missense_Mutation_p.Q730K|UPF2_ENST00000357604.5_Missense_Mutation_p.Q730K			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	730	MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTCATCATTTGCTCCTGAAAT	0.363													9	27					3.09899e-07	5.464e-07	1	0	T	12001352	G	T	12001352	3	4	151	1	0	0	0	0	1	0	0	0	17100	1328	46	4	1674	4	UPF2	10	12001352	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08		12001352	123533395	62	27801											
DHTKD1	55526	broad.mit.edu	37	chr10	12126710	12126710	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagacgtttaccacagAagagcgaaaacatctgtcga	17	6	10	8	3	1	3	0	0	1	3	2	6	1	3	1	1	3	1	1	1	5	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr10:12126710A>C	ENST00000263035.4	+	3	544	c.482A>C	c.(481-483)gAa>gCa	p.E161A	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	161					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTACCACAGAAGAGCGAAAA	0.493													45	92					0	0	0	0	C	12126710	A	C	12126710	3	2	151	1	0	0	0	0	1	0	0	0	4537	246	9	5	492	5	DHTKD1	10	12126710	Missense_Mutation	SNP	A	TCGA-CQ-6228-01A-11D-1912-08	125358	12126710	123408037	63	27802											
RET	5979	broad.mit.edu	37	chr10	43604571	43604571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacttccagggcccaggaGcgggcgtcctcttgctccac	6	7	12	16	2	1	1	0	0	1	1	4	2	4	2	4	3	2	1	4	3	0	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr10:43604571G>A	ENST00000355710.3	+	6	1388	c.1156G>A	c.(1156-1158)Gcg>Acg	p.A386T	RET_ENST00000340058.5_Missense_Mutation_p.A386T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	386					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GGGCCCAGGAGCGGGCGTCCT	0.632		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				20	23					0	0	0	0	A	43604571	G	A	43604571	3	1	151	1	0	0	0	0	1	0	0	0	13317	971	34	4	1178	4	RET	10	43604571	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	31477861	43604571	91930176	64	27803											
PCDH15	65217	broad.mit.edu	37	chr10	55849763	55849763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtttctgaaagattaaaaaCtctctgaggatctccattct	12	14	6	9	1	4	3	0	2	4	1	6	4	4	4	1	1	1	1	1	1	4	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr10:55849763C>A	ENST00000373965.2	-	17	2393	c.1999G>T	c.(1999-2001)Gtt>Ttt	p.V667F	PCDH15_ENST00000395430.1_Missense_Mutation_p.V660F|PCDH15_ENST00000409834.1_Missense_Mutation_p.V271F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.V660F|PCDH15_ENST00000361849.3_Missense_Mutation_p.V660F|PCDH15_ENST00000395432.2_Missense_Mutation_p.V623F|PCDH15_ENST00000320301.6_Missense_Mutation_p.V660F|PCDH15_ENST00000414778.1_Missense_Mutation_p.V665F|PCDH15_ENST00000373955.1_Missense_Mutation_p.V660F|PCDH15_ENST00000395445.1_Missense_Mutation_p.V667F|PCDH15_ENST00000395438.1_Missense_Mutation_p.V660F|PCDH15_ENST00000373957.3_Missense_Mutation_p.V638F|PCDH15_ENST00000395433.1_Missense_Mutation_p.V638F|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	660	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGATTAAAAACTCTCTGAGGA	0.338										HNSCC(58;0.16)			29	94					8.88839e-20	1.68943e-19	1	0	A	55849763	C	A	55849763	3	1	151	1	0	0	0	0	1	0	0	0	11582	565	20	4	5580	4	PCDH15	10	55849763	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	12245192	55849763	79684984	65	27804											
DRD4	1815	broad.mit.edu	37	chr11	639780	639780	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcggcctcaacgacgtGcgcggccgcgaccccgccgt	4	5	14	18	9	1	0	1	0	0	0	1	2	1	0	5	2	3	0	5	2	1	0			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:639780G>A	ENST00000176183.5	+	3	543	c.531G>A	c.(529-531)gtG>gtA	p.V177V	DRD4_ENST00000528733.1_3'UTR	NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	177					activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	TCAACGACGTGCGCGGCCGCG	0.726													7	7					0	0	0	0	A	639780	G	A	639780	2	1	151	1	0	0	0	0	0	0	0	1	4795	1306	46	4		4	DRD4	11	639780	Silent	SNP	G	TCGA-CQ-6228-01A-11D-1912-08		639780	134366736	66	27805											
OR51E2	81285	broad.mit.edu	37	chr11	4703785	4703785	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatcggagcgtgcaggcTgcgttccgtccttacgatga	7	10	13	11	5	0	1	0	1	0	0	3	3	2	2	2	2	5	4	2	2	2	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:4703785T>C	ENST00000396950.3	-	2	396	c.157A>G	c.(157-159)Agc>Ggc	p.S53G		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCGTGCAGGCTGCGTTCCGTC	0.512													3	77					0	0	0	0	C	4703785	T	C	4703785	3	2	151	1	0	0	0	0	1	0	0	0	11166	1580	55	5	809	5	OR51E2	11	4703785	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08	4064005	4703785	130302731	67	27806											
PTPRJ	5795	broad.mit.edu	37	chr11	48158579	48158579	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatgtgtccaacattgAtgtaagtaccaacaccacag	15	8	7	11	0	0	1	0	1	0	0	1	1	1	1	3	0	4	3	3	0	5	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:48158579A>C	ENST00000418331.2	+	10	2250	c.1898A>C	c.(1897-1899)gAt>gCt	p.D633A		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	633	Fibronectin type-III 7.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCCAACATTGATGTAAGTACC	0.398													12	87					0	0	0	0	C	48158579	A	C	48158579	3	2	151	1	0	0	0	0	1	0	0	0	12886	333	12	5	1945	5	PTPRJ	11	48158579	Missense_Mutation	SNP	A	TCGA-CQ-6228-01A-11D-1912-08	43454794	48158579	86847937	68	27807											
MED17	9440	broad.mit.edu	37	chr11	93527025	93527025	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttagaggggtctgcatatAtcaaggtatttgtcaaaata	14	14	9	4	0	3	1	2	0	1	1	3	1	3	1	0	3	1	2	0	3	8	7			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:93527025A>G	ENST00000251871.3	+	4	1056	c.769A>G	c.(769-771)Atc>Gtc	p.I257V		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	257					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTCTGCATATATCAAGGTATT	0.299													14	407					0	0	0	0	G	93527025	A	G	93527025	3	3	151	1	0	0	0	0	1	0	0	0	9504	449	16	5	783	5	MED17	11	93527025	Missense_Mutation	SNP	A	TCGA-CQ-6228-01A-11D-1912-08	45368446	93527025	41479491	69	27808											
MMP12	4321	broad.mit.edu	37	chr11	102743846	102743847	+	RNA	INS	-	-	A																															atttttctaagtatctctggINSaaaaaaaaatacattcagca																										TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:102743846_102743847insA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGTATCTCTGGAAAAAAAAATA	0.332													19	489	---	---	---	---					A	102743847	-	A	102743846	6	5	151	0	1	1	1	0	0	0	0	0	9720	1189	41	0		0	MMP12	11	102743846	RNA	INS	-	TCGA-CQ-6228-01A-11D-1912-08	9216821	102743846	32262670	70	27809											
TMPRSS13	84000	broad.mit.edu	37	chr11	117789522	117789522	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgcctgggctggagatgctCcagctgaaggtgttcttgct	6	12	14	9	0	1	2	0	1	1	1	2	3	2	2	2	3	4	5	2	3	1	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:117789522C>G	ENST00000528626.1	-	2	126	c.53G>C	c.(52-54)gGa>gCa	p.G18A	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G18A|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G18A|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.G18A|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.G18A	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	18	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGGAGATGCTCCAGCTGAAGG	0.617													13	24					0	0	0	0	G	117789522	C	G	117789522	3	3	151	1	0	0	0	0	1	0	0	0	16339	855	30	2	1698	2	TMPRSS13	11	117789522	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	15045676	117789522	17216994	71	27810											
ZNF384	171017	broad.mit.edu	37	chr12	6788350	6788350	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaacattgtgttctcgatCtaagagaaaaggaaggggac	15	9	12	5	1	2	2	0	1	2	1	3	6	2	4	0	3	1	1	0	3	5	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:6788350C>G	ENST00000396795.1	-	3	564		c.e3-1		ZNF384_ENST00000355772.4_Splice_Site|ZNF384_ENST00000361959.3_Splice_Site|ZNF384_ENST00000396799.2_Splice_Site|ZNF384_ENST00000396801.3_Splice_Site|ZNF384_ENST00000319770.3_Splice_Site			Q8TF68	ZN384_HUMAN	zinc finger protein 384						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						TGTTCTCGATCTAAGAGAAAA	0.532			T	"EWSR1, TAF15 "	ALL								26	47					0	0	0	0	G	6788350	C	G	6788350	5	3	151	1	0	0	0	0	0	0	1	0	17970	927	32	2	1699	2	ZNF384	12	6788350	Splice_Site	SNP	C	TCGA-CQ-6228-01A-11D-1912-08		6788350	127063545	72	27811											
ALG10B	144245	broad.mit.edu	37	chr12	38712166	38712166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctgaacatgttgtctgctCcattgggatgctcagatttg	7	15	11	8	0	3	2	1	1	2	1	4	3	4	3	1	1	3	3	1	1	1	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:38712166C>T	ENST00000308742.4	+	2	591	c.275C>T	c.(274-276)tCc>tTc	p.S92F	ALG10B_ENST00000551464.1_Missense_Mutation_p.S92F	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	92					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTTGTCTGCTCCATTGGGATG	0.418													7	98					0	0	0	0	T	38712166	C	T	38712166	3	4	151	1	0	0	0	0	1	0	0	0	512	855	30	2	281	2	ALG10B	12	38712166	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	31923816	38712166	95139729	73	27812			1	39		3	3	2597	C		4.861867e-05
ALG10B	144245	broad.mit.edu	37	chr12	38714315	38714315	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcagtttcttttggcttattCcatgtcctttaaaaacttga	9	19	5	8	0	2	1	1	1	1	0	4	1	4	1	2	1	1	2	2	1	4	8			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:38714315C>G	ENST00000308742.4	+	3	1038	c.722C>G	c.(721-723)tCc>tGc	p.S241C	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	241					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTGGCTTATTCCATGTCCTTT	0.368													9	114					0	0	0	0	G	38714315	C	G	38714315	3	3	151	1	0	0	0	0	1	0	0	0	512	855	30	2	732	2	ALG10B	12	38714315	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	2149	38714315	95137580	74	27813			1	39		3	3	2597	C		4.861867e-05
ALG10B	144245	broad.mit.edu	37	chr12	38714762	38714762	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatagctgactcattgaaatCaaagccaattttttggaatt	14	15	6	6	0	2	2	2	2	0	0	2	3	2	3	1	1	2	1	1	1	6	7			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:38714762C>G	ENST00000308742.4	+	3	1485	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	390					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCATTGAAATCAAAGCCAATT	0.313													6	59					0	0	0	0	G	38714762	C	G	38714762	4	3	151	1	0	0	0	0	0	1	0	0	512	838	29	2	1179	2	ALG10B	12	38714762	Nonsense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	447	38714762	95137133	75	27814			1	39		3	3	2597	C		4.861867e-05
NAV3	89795	broad.mit.edu	37	chr12	78513391	78513391	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctacaatatcgcagcttgCcccgcccttcaaaatccagc	10	8	5	18	2	1	0	1	0	0	0	3	0	2	0	5	0	4	2	5	0	5	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:78513391C>A	ENST00000397909.2	+	15	3588	c.3415C>A	c.(3415-3417)Ccc>Acc	p.P1139T	NAV3_ENST00000536525.2_Missense_Mutation_p.P1139T|NAV3_ENST00000228327.6_Missense_Mutation_p.P1139T|NAV3_ENST00000266692.7_Missense_Mutation_p.P1139T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1139	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCGCAGCTTGCCCCGCCCTTC	0.512										HNSCC(70;0.22)			23	51					3.01185e-09	5.41728e-09	1	0	A	78513391	C	A	78513391	3	1	151	1	0	0	0	0	1	0	0	0	10255	739	26	4	3473	4	NAV3	12	78513391	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	39798629	78513391	55338504	76	27815											
NR2C1	7181	broad.mit.edu	37	chr12	95442958	95442958	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgcccgctactgagctctgGcaggctgtgctctctccagg	5	10	12	14	1	2	1	0	1	2	0	4	1	3	1	2	3	4	5	2	3	1	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:95442958G>A	ENST00000333003.5	-	9	1347	c.1017C>T	c.(1015-1017)tgC>tgT	p.C339C	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Silent_p.C339C|NR2C1_ENST00000330677.7_Silent_p.C339C	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	339					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTGAGCTCTGGCAGGCTGTGC	0.468													44	78					0	0	0	0	A	95442958	G	A	95442958	2	1	151	1	0	0	0	0	0	0	0	1	10693	1195	42	4		4	NR2C1	12	95442958	Silent	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	16929567	95442958	38408937	77	27816											
NEDD1	121441	broad.mit.edu	37	chr12	97337517	97337517	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatatatatgggaaaacagGaatctaaagactccttcaaa	20	9	6	6	0	2	1	1	0	1	1	3	3	3	3	1	2	1	0	1	2	10	5			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:97337517G>T	ENST00000266742.4	+	12	1813	c.1474G>T	c.(1474-1476)Gaa>Taa	p.E492*	NEDD1_ENST00000429527.2_Nonsense_Mutation_p.E492*|NEDD1_ENST00000457368.2_Nonsense_Mutation_p.E403*|NEDD1_ENST00000411739.2_Nonsense_Mutation_p.E403*|NEDD1_ENST00000557644.1_Nonsense_Mutation_p.E499*	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	492					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GGGAAAACAGGAATCTAAAGA	0.383													12	22					7.03913e-09	1.25766e-08	1	0	T	97337517	G	T	97337517	4	4	151	1	0	0	0	0	0	1	0	0	10379	1175	41	2	1537	2	NEDD1	12	97337517	Nonsense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	1894559	97337517	36514378	78	27817											
CATSPER2	117155	broad.mit.edu	37	chr15	43939610	43939610	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacgctgaggctttatagaGaaacgcactagctggtgttg	11	11	12	7	2	0	2	0	1	0	1	0	3	0	2	0	2	3	5	0	2	5	6			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:43939610G>C	ENST00000396879.1	-	4	313	c.201C>G	c.(199-201)ttC>ttG	p.F67L	CATSPER2_ENST00000464721.1_5'UTR|CATSPER2_ENST00000381761.1_Missense_Mutation_p.F73L|CATSPER2_ENST00000321596.5_Missense_Mutation_p.F67L|CATSPER2_ENST00000354127.4_Missense_Mutation_p.F67L|CATSPER2_ENST00000355438.2_Missense_Mutation_p.F67L|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	67					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTTTATAGAGAAACGCACTA	0.443													52	59					0	0	0	0	C	43939610	G	C	43939610	3	2	151	1	0	0	0	0	1	0	0	0	2713	933	33	2	1474	2	CATSPER2	15	43939610	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08		43939610	58591782	79	27818											
UNC13C	440279	broad.mit.edu	37	chr15	54305533	54305533	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaaaaccaggcacaatcaAcacacacaatgccagttaga	19	4	6	12	0	1	2	1	0	0	2	1	2	1	2	2	1	3	2	2	1	6	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:54305533A>G	ENST00000545554.1	+	1	433	c.433A>G	c.(433-435)Aca>Gca	p.T145A	UNC13C_ENST00000260323.11_Missense_Mutation_p.T145A|UNC13C_ENST00000537900.1_Missense_Mutation_p.T145A			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	145					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGCACAATCAACACACACAAT	0.458													4	87					0	0	0	0	G	54305533	A	G	54305533	3	3	151	1	0	0	0	0	1	0	0	0	17082	43	2	5	435	5	UNC13C	15	54305533	Missense_Mutation	SNP	A	TCGA-CQ-6228-01A-11D-1912-08	10365923	54305533	48225859	80	27819											
PIGB	9488	broad.mit.edu	37	chr15	55626120	55626120	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattcgtcccacagctgtcAttctgtggacacctttgctc	7	14	7	13	1	2	0	1	0	1	0	5	1	3	1	2	1	2	2	2	1	1	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:55626120A>C	ENST00000164305.5	+	6	1000	c.709A>C	c.(709-711)Att>Ctt	p.I237L	PIGB_ENST00000539642.1_Missense_Mutation_p.I42L	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	237					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CACAGCTGTCATTCTGTGGAC	0.398													7	43					0	0	0	0	C	55626120	A	C	55626120	3	2	151	1	0	0	0	0	1	0	0	0	11957	217	8	5	731	5	PIGB	15	55626120	Missense_Mutation	SNP	A	TCGA-CQ-6228-01A-11D-1912-08	1320587	55626120	46905272	81	27820											
AP3B2	8120	broad.mit.edu	37	chr15	83349371	83349371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgttgcgcagcagcagcCggtggtcggggtccatgaca	6	8	17	10	3	0	1	0	1	0	0	2	1	1	1	2	5	4	4	2	5	0	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:83349371C>T	ENST00000261722.3	-	8	1115	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R303Q|AP3B2_ENST00000535348.1_Missense_Mutation_p.R271Q	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	303					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGCAGCAGCCGGTGGTCGGG	0.706													4	29					0	0	0	0	T	83349371	C	T	83349371	3	4	151	1	0	0	0	0	1	0	0	0	746	652	23	1	2340	1	AP3B2	15	83349371	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	27723251	83349371	19182021	82	27821											
TM6SF1	53346	broad.mit.edu	37	chr15	83796130	83796130	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctggcatatatgttctaTtctgttccttactttgtgac	7	19	7	8	0	2	1	0	1	2	0	3	1	3	1	1	1	2	4	1	1	4	8			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:83796130T>C	ENST00000379390.6	+	6	611	c.502T>C	c.(502-504)Ttc>Ctc	p.F168L	TM6SF1_ENST00000379386.4_Silent_p.Y277Y|TM6SF1_ENST00000322019.9_Silent_p.Y274Y|TM6SF1_ENST00000565774.1_Silent_p.Y243Y			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	0						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ATATGTTCTATTCTGTTCCTT	0.408													132	113					0	0	0	0	C	83796130	T	C	83796130	3	2	151	1	0	0	0	0	1	0	0	0	16066	1500	52	5	856	5	TM6SF1	15	83796130	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08	446759	83796130	18735262	83	27822											
ZNF592	9640	broad.mit.edu	37	chr15	85333936	85333936	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggtgttctttcctagAcctgccaggtatgccaaatg	7	15	9	10	0	2	1	0	0	2	1	3	1	3	1	4	2	2	2	4	2	3	6			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:85333936A>G	ENST00000299927.3	+	2	2243	c.2220_splice	c.e2-1	p.T741_splice	ZNF592_ENST00000560079.2_Splice_Site_p.T741_splice			Q92610	ZN592_HUMAN	zinc finger protein 592	741					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTTTCCTAGACCTGCCAGGT	0.552													29	64					0	0	0	0	G	85333936	A	G	85333936	5	3	151	1	0	0	0	0	0	0	1	0	18117	289	10	5	2227	5	ZNF592	15	85333936	Splice_Site	SNP	A	TCGA-CQ-6228-01A-11D-1912-08	1537806	85333936	17197456	84	27823											
DNAH3	55567	broad.mit.edu	37	chr16	20944608	20944608	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagggttcctctgcgggcActtgttttgtagactggaca	7	12	14	8	1	1	2	0	0	1	2	2	4	2	3	1	3	1	4	1	3	1	5			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:20944608A>T	ENST00000261383.3	-	62	12218	c.12219T>A	c.(12217-12219)agT>agA	p.S4073R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4073					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCTGCGGGCACTTGTTTTGT	0.512													58	104					0	0	0	0	T	20944608	A	T	20944608	3	4	151	1	0	0	0	0	1	0	0	0	4640	156	6	5	134	5	DNAH3	16	20944608	Missense_Mutation	SNP	A	TCGA-CQ-6228-01A-11D-1912-08		20944608	69410145	85	27824											
GGA2	23062	broad.mit.edu	37	chr16	23480233	23480233	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattgtcaagcagcagcaTctgagatatcacagctggag	12	9	12	8	0	3	1	2	1	1	1	3	4	3	3	0	2	4	4	0	2	2	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:23480233T>C	ENST00000309859.4	-	16	1787	c.1705A>G	c.(1705-1707)Atg>Gtg	p.M569V	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	569	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		AGCAGCAGCATCTGAGATATC	0.512													29	39					0	0	0	0	C	23480233	T	C	23480233	3	2	151	1	0	0	0	0	1	0	0	0	6404	1435	50	5	144	5	GGA2	16	23480233	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08	2535625	23480233	66874520	86	27825											
KIF22	3835	broad.mit.edu	37	chr16	29814096	29814096	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttttctgctcagccccctAcagaagctaagcagcatgga	10	10	8	13	0	2	1	1	0	1	1	2	2	2	2	2	1	6	4	2	1	3	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:29814096A>G	ENST00000561482.1	+	9	1720	c.1083A>G	c.(1081-1083)ctA>ctG	p.L361L	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Silent_p.L361L|KIF22_ENST00000160827.4_Silent_p.L429L|KIF22_ENST00000569382.2_Silent_p.L361L	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	429					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCAGCCCCCTACAGAAGCTAA	0.592													3	93					0	0	0	0	G	29814096	A	G	29814096	2	3	151	1	0	0	0	0	0	0	0	1	8341	378	14	5		5	KIF22	16	29814096	Silent	SNP	A	TCGA-CQ-6228-01A-11D-1912-08	6333863	29814096	60540657	87	27826											
ASPHD1	253982	broad.mit.edu	37	chr16	29913176	29913176	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgccggcttttccgttcTcctgcctggggcccggctcg	2	11	12	16	4	1	0	0	0	1	0	4	0	2	0	5	4	2	3	5	4	1	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:29913176T>C	ENST00000308748.5	+	1	1136	c.884T>C	c.(883-885)cTc>cCc	p.L295P	ASPHD1_ENST00000483405.1_Missense_Mutation_p.L14P	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	295					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TTTTCCGTTCTCCTGCCTGGG	0.657													14	16					0	0	0	0	C	29913176	T	C	29913176	3	2	151	1	0	0	0	0	1	0	0	0	1058	1551	54	5	886	5	ASPHD1	16	29913176	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08	99080	29913176	60441577	88	27827											
ZNF646	9726	broad.mit.edu	37	chr16	31089215	31089215	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcgccgaagtgcagacAtcggggctgagggtgccccc	6	6	15	14	3	0	2	0	1	0	1	2	3	0	2	3	3	3	3	3	3	1	0			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:31089215A>T	ENST00000394979.2	+	1	1993	c.1570A>T	c.(1570-1572)Atc>Ttc	p.I524F	ZNF646_ENST00000300850.5_Missense_Mutation_p.I524F			O15015	ZN646_HUMAN	zinc finger protein 646	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AAGTGCAGACATCGGGGCTGA	0.622													10	16					0	0	0	0	T	31089215	A	T	31089215	3	4	151	1	0	0	0	0	1	0	0	0	18157	217	8	5	1572	5	ZNF646	16	31089215	Missense_Mutation	SNP	A	TCGA-CQ-6228-01A-11D-1912-08	1176039	31089215	59265538	89	27828											
SNX20	124460	broad.mit.edu	37	chr16	50707787	50707787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcccaggtactcctgcaGggcgcgccgacgctcacaga	8	4	13	16	4	1	1	1	0	0	1	2	2	2	1	3	3	2	3	3	3	1	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:50707787G>A	ENST00000330943.4	-	4	652	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	161	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TACTCCTGCAGGGCGCGCCGA	0.647													5	25					0	0	0	0	A	50707787	G	A	50707787	2	1	151	1	0	0	0	0	0	0	0	1	14980	991	35	4		4	SNX20	16	50707787	Silent	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	19618572	50707787	39646966	90	27829											
CTCF	10664	broad.mit.edu	37	chr16	67670700	67670700	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagccccaccacccgccAagaagcggagaggacgaccc	11	0	10	20	3	0	2	0	0	0	2	0	5	0	3	8	2	2	0	8	2	2	0			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:67670700A>T	ENST00000264010.4	+	11	2389	c.1945A>T	c.(1945-1947)Aag>Tag	p.K649*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.K321*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	649					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		ACCACCCGCCAAGAAGCGGAG	0.587													79	135					0	0	0	0	T	67670700	A	T	67670700	4	4	151	1	0	0	0	0	0	1	0	0	4032	131	5	5	1979	5	CTCF	16	67670700	Nonsense_Mutation	SNP	A	TCGA-CQ-6228-01A-11D-1912-08	16962913	67670700	22684053	91	27830											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67861219	67861219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggagctgatggaggcagggGgctggcatcccagcagcagc	9	4	18	10	0	0	1	0	1	0	0	1	3	1	3	1	6	4	6	1	6	0	0			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:67861219G>A	ENST00000388833.3	+	14	1947	c.1570G>A	c.(1570-1572)Ggc>Agc	p.G524S	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.G578S|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.G509S	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	524					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GGAGGCAGGGGGCTGGCATCC	0.597													32	36					0	0	0	0	A	67861219	G	A	67861219	3	1	151	1	0	0	0	0	1	0	0	0	16727	1232	43	4	1616	4	TSNAXIP1	16	67861219	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	190519	67861219	22493534	92	27831											
TP53	7157	broad.mit.edu	37	chr17	7579386	7579386	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgccctggtaggtttTctgggaagggacagaagatg	9	10	16	6	0	1	2	0	0	1	2	1	4	1	4	1	4	2	4	1	4	4	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:7579386T>A	ENST00000420246.2	-	4	433	c.301A>T	c.(301-303)Aaa>Taa	p.K101*	TP53_ENST00000445888.2_Nonsense_Mutation_p.K101*|TP53_ENST00000413465.2_Nonsense_Mutation_p.K101*|TP53_ENST00000359597.4_Nonsense_Mutation_p.K101*|TP53_ENST00000269305.4_Nonsense_Mutation_p.K101*|TP53_ENST00000455263.2_Nonsense_Mutation_p.K101*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	101	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		K -> N (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.K101*(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.T102fs*21(2)|p.V73fs*9(1)|p.K101fs*48(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGTAGGTTTTCTGGGAAGGG	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	8					0	0	0	0	A	7579386	T	A	7579386	4	1	151	1	0	0	0	0	0	1	0	0	16476	1792	62	5	1001	5	TP53	17	7579386	Nonsense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08		7579386	73615824	93	27832											
SEZ6	124925	broad.mit.edu	37	chr17	27308731	27308731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctgagtgggtaccgCagccatggctggagtggggc	5	7	20	9	1	0	1	0	1	0	0	0	2	0	2	2	7	2	4	2	7	1	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:27308731C>T	ENST00000317338.12	-	2	810	c.382G>A	c.(382-384)Gcg>Acg	p.A128T	SEZ6_ENST00000360295.9_Missense_Mutation_p.A128T|SEZ6_ENST00000335960.6_Missense_Mutation_p.A128T|SEZ6_ENST00000442608.3_Missense_Mutation_p.A128T|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	128	Pro-rich.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTGGGTACCGCAGCCATGGCT	0.652													13	21					0	0	0	0	T	27308731	C	T	27308731	3	4	151	1	0	0	0	0	1	0	0	0	14229	710	25	4	2679	4	SEZ6	17	27308731	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	19729345	27308731	53886479	94	27833											
RFFL	117584	broad.mit.edu	37	chr17	33343508	33343508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatctctttcagctgcCgcactgtcaggccttcaatg	8	11	8	14	1	4	1	3	0	1	1	5	1	4	1	3	1	2	2	3	1	2	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:33343508C>T	ENST00000315249.7	-	5	989	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.R173Q|RFFL_ENST00000447669.2_Missense_Mutation_p.R256Q|RFFL_ENST00000413582.2_Missense_Mutation_p.R256Q|RFFL_ENST00000394597.2_Missense_Mutation_p.R256Q|RFFL_ENST00000378516.2_Missense_Mutation_p.R256Q|RFFL_ENST00000268850.7_Missense_Mutation_p.R228Q|RFFL_ENST00000584655.1_Missense_Mutation_p.R228Q|RFFL_ENST00000415395.2_Missense_Mutation_p.R256Q			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	256	SAP 2.				apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTTCAGCTGCCGCACTGTCAG	0.537													10	163					0	0	0	0	T	33343508	C	T	33343508	3	4	151	1	0	0	0	0	1	0	0	0	13332	652	23	1	336	1	RFFL	17	33343508	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	6034777	33343508	47851702	95	27834											
DUSP14	11072	broad.mit.edu	37	chr17	35872374	35872375	+	Translation_Start_Site	INS	-	-	A																															gtgtgactgctggcgtcttcINSatgagctccagaggtcacag																										TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:35872374_35872375insA	ENST00000487847.1	+	0	978_979				DUSP14_ENST00000394386.1_De_novo_Start_InFrame|DUSP14_ENST00000394389.4_De_novo_Start_InFrame			O95147	DUS14_HUMAN	dual specificity phosphatase 14								MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				CTGGCGTCTTCATGAGCTCCAG	0.505													151	36	---	---	---	---					A	35872375	-	A	35872374	6	5	151	1	0	1	1	0	0	0	0	0	4850	841	29	0		0	DUSP14	17	35872374	Translation_Start_Site	INS	-	TCGA-CQ-6228-01A-11D-1912-08	2528866	35872374	45322836	96	27835											
KRT26	353288	broad.mit.edu	37	chr17	38926053	38926053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagggtttgcagattgcGttttaattcggtcagctcat	7	16	10	8	2	2	1	2	0	0	1	4	1	3	1	1	2	3	4	1	2	1	6			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:38926053G>A	ENST00000335552.4	-	5	970	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	308	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TGCAGATTGCGTTTTAATTCG	0.438													45	20					0	0	0	0	A	38926053	G	A	38926053	3	1	151	1	0	0	0	0	1	0	0	0	8515	1145	40	1	500	1	KRT26	17	38926053	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	3053679	38926053	42269157	97	27836											
H3F3B	3021	broad.mit.edu	37	chr17	73775146	73775146	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgtagcgatgaggcttcTtcaccccgccggtagaggga	8	8	13	12	3	2	2	1	1	1	1	2	4	2	3	4	3	1	3	4	3	2	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:73775146T>A	ENST00000254810.4	-	2	242	c.110A>T	c.(109-111)aAg>aTg	p.K37M	H3F3B_ENST00000591890.1_Missense_Mutation_p.K37M|H3F3B_ENST00000587560.1_Missense_Mutation_p.K37M|H3F3B_ENST00000589599.1_Missense_Mutation_p.K37M|H3F3B_ENST00000592643.1_Missense_Mutation_p.K37M|H3F3B_ENST00000586607.1_Missense_Mutation_p.K37M|H3F3B_ENST00000593254.1_Intron	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	37					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGAGGCTTCTTCACCCCGCC	0.662											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	19					0	0	0	0	A	73775146	T	A	73775146	3	1	151	1	0	0	0	0	1	0	0	0	6984	1609	56	5	312	5	H3F3B	17	73775146	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08	34849093	73775146	7420064	98	27837											
ANGPTL6	83854	broad.mit.edu	37	chr19	10204170	10204170	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggagaagccatcatagtgGgcacgtgctccacggccccc	9	5	13	14	2	1	1	1	0	0	1	2	2	2	1	4	3	2	2	4	3	2	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:10204170G>A	ENST00000253109.4	-	5	1315	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A	ANGPTL6_ENST00000592641.1_Silent_p.A359A|ANGPTL6_ENST00000589181.1_Silent_p.A319A	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	359	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CATCATAGTGGGCACGTGCTC	0.612													15	31					0	0	0	0	A	10204170	G	A	10204170	2	1	151	1	0	0	0	0	0	0	0	1	618	1219	43	4		4	ANGPTL6	19	10204170	Silent	SNP	G	TCGA-CQ-6228-01A-11D-1912-08		10204170	48924813	99	27838											
CCDC105	126402	broad.mit.edu	37	chr19	15132682	15132682	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagacccctggttcgcatgtAccagagacacgtgggcaccc	9	6	11	15	2	0	2	0	0	0	2	1	3	0	2	4	2	1	4	4	2	1	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:15132682A>G	ENST00000292574.3	+	6	1284	c.1202A>G	c.(1201-1203)tAc>tGc	p.Y401C		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	401					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GTTCGCATGTACCAGAGACAC	0.632													15	34					0	0	0	0	G	15132682	A	G	15132682	3	3	151	1	0	0	0	0	1	0	0	0	2765	391	14	5	1224	5	CCDC105	19	15132682	Missense_Mutation	SNP	A	TCGA-CQ-6228-01A-11D-1912-08	4928512	15132682	43996301	100	27839											
NUDT19	390916	broad.mit.edu	37	chr19	33200149	33200149	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaagaaatttggttgccacCcccacagttctacgaagtga	14	9	8	10	1	1	2	0	1	1	1	1	3	1	2	3	1	2	2	3	1	5	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:33200149C>G	ENST00000397061.3	+	2	773	c.773C>G	c.(772-774)cCc>cGc	p.P258R		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	258	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					TGGTTGCCACCCCCACAGTTC	0.433													29	229					0	0	0	0	G	33200149	C	G	33200149	3	3	151	1	0	0	0	0	1	0	0	0	10807	623	22	4	779	4	NUDT19	19	33200149	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	18067467	33200149	25928834	101	27840											
ARHGAP35	2909	broad.mit.edu	37	chr19	47492882	47492882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctttttctcagaactgcCtgaccccctggtcccgtata	7	12	8	14	1	1	2	1	1	1	1	3	3	2	2	4	1	3	2	4	1	3	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:47492882C>T	ENST00000404338.3	+	4	3986	c.3986C>T	c.(3985-3987)cCt>cTt	p.P1329L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1329	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TCAGAACTGCCTGACCCCCTG	0.542													52	86					0	0	0	0	T	47492882	C	T	47492882	3	4	151	1	0	0	0	0	1	0	0	0	6845	681	24	4	4000	4	ARHGAP35	19	47492882	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	14292733	47492882	11636101	102	27841											
DKKL1	27120	broad.mit.edu	37	chr19	49867878	49867878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcggcatctgctggtccTgctgctgctcctctctaccc	4	11	10	16	1	2	0	0	0	2	0	5	0	4	0	3	3	5	5	3	3	2	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:49867878T>C	ENST00000221498.2	+	2	455	c.50T>C	c.(49-51)cTg>cCg	p.L17P	DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	17					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CTGCTGGTCCTGCTGCTGCTC	0.677													3	55					0	0	0	0	C	49867878	T	C	49867878	3	2	151	1	0	0	0	0	1	0	0	0	4585	1580	55	5	56	5	DKKL1	19	49867878	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08	2374996	49867878	9261105	103	27842											
TBC1D20	128637	broad.mit.edu	37	chr20	428589	428589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagcttgggccacacttttCgtctgatctcatcagtcagg	7	12	11	11	1	4	1	3	1	2	0	6	2	4	2	1	3	1	1	1	3	0	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr20:428589C>T	ENST00000354200.4	-	2	347	c.200G>A	c.(199-201)cGa>cAa	p.R67Q		NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	67	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CCACACTTTTCGTCTGATCTC	0.537													8	60					0	0	0	0	T	428589	C	T	428589	3	4	151	1	0	0	0	0	1	0	0	0	15700	884	31	1	1039	1	TBC1D20	20	428589	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08		428589	62596931	104	27843											
PAX1	5075	broad.mit.edu	37	chr20	21695341	21695341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgccggcccgcggggtgCacgcccagccagcccccagg	5	2	15	19	4	0	0	0	0	0	0	0	0	0	0	6	4	4	1	6	4	0	0			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr20:21695341C>T	ENST00000398485.2	+	5	1559	c.1505C>T	c.(1504-1506)gCa>gTa	p.A502V	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	502					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCGCGGGGTGCACGCCCAGCC	0.687													13	24					0	0	0	0	T	21695341	C	T	21695341	3	4	151	1	0	0	0	0	1	0	0	0	11549	710	25	4	1523	4	PAX1	20	21695341	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	21266752	21695341	41330179	105	27844											
RALGAPB	57148	broad.mit.edu	37	chr20	37199442	37199442	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcagagctgatgacagAgatcagtactggtgtggaaa	12	9	12	8	0	2	4	2	2	1	2	3	6	2	5	1	2	2	2	1	2	2	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr20:37199442A>T	ENST00000262879.6	+	28	4378	c.4094A>T	c.(4093-4095)gAg>gTg	p.E1365V	RALGAPB_ENST00000397038.1_Missense_Mutation_p.E1144V|RALGAPB_ENST00000397040.1_Missense_Mutation_p.E1365V|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E1362V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1365	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTGATGACAGAGATCAGTACT	0.358													22	29					0	0	0	0	T	37199442	A	T	37199442	3	4	151	1	0	0	0	0	1	0	0	0	13097	304	11	5	4200	5	RALGAPB	20	37199442	Missense_Mutation	SNP	A	TCGA-CQ-6228-01A-11D-1912-08	15504101	37199442	25826078	106	27845											
BAGE2	85319	broad.mit.edu	37	chr21	11085940	11085942	+	RNA	DEL	CAC	CAC	-																															accaccaccaccaccaccatCaccaccaccaccaccatcaa																										TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:11085940_11085942delCAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccatcaccaccaccacc	0.532													2	4	---	---	---	---					-	11085942	CAC	-	11085940	6	5	151	0	1	1	0	1	0	0	0	0	1296	841	29	0		0	BAGE2	21	11085940	RNA	DEL	CAC	TCGA-CQ-6228-01A-11D-1912-08		11085940	37043955	107	27846											
GRIK1	2897	broad.mit.edu	37	chr21	30934039	30934039	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacatactcaatgctggtGgactccatcagcagcgcgta	10	9	10	12	2	3	0	3	0	0	0	4	1	4	1	1	2	4	3	1	2	3	2			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:30934039G>T	ENST00000399914.1	-	14	2738	c.2217C>A	c.(2215-2217)tcC>tcA	p.S739S	GRIK1_ENST00000535441.1_Silent_p.S756S|GRIK1_ENST00000399913.1_Silent_p.S754S|GRIK1_ENST00000399909.1_Silent_p.S739S|GRIK1_ENST00000327783.4_Silent_p.S754S|GRIK1_ENST00000389125.3_Silent_p.S739S|GRIK1_ENST00000309434.7_Silent_p.S756S|GRIK1_ENST00000399907.1_Silent_p.S754S|GRIK1_ENST00000389124.2_Silent_p.S754S			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	754					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CAATGCTGGTGGACTCCATCA	0.542													19	36					2.39187e-15	4.45154e-15	1	0	T	30934039	G	T	30934039	2	4	151	1	0	0	0	0	0	0	0	1	6823	1335	47	4		4	GRIK1	21	30934039	Silent	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	19848099	30934039	17195856	108	27847											
HUNK	30811	broad.mit.edu	37	chr21	33296871	33296871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcagatccagcagatgaTccgccaccccaatatcactc	11	7	8	15	1	2	3	2	1	0	2	5	3	4	3	5	1	1	1	5	1	2	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:33296871T>C	ENST00000270112.2	+	2	713	c.353T>C	c.(352-354)aTc>aCc	p.I118T		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	118	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CAGCAGATGATCCGCCACCCC	0.493													21	23					0	0	0	0	C	33296871	T	C	33296871	3	2	151	1	0	0	0	0	1	0	0	0	7511	1435	50	5	359	5	HUNK	21	33296871	Missense_Mutation	SNP	T	TCGA-CQ-6228-01A-11D-1912-08	2362832	33296871	14833024	109	27848											
TCP10L	140290	broad.mit.edu	37	chr21	33951084	33951084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgtggccagcgtatttggGtattgtctcttcatcagctg	5	16	11	9	1	3	0	2	0	1	0	4	0	3	0	1	2	2	3	1	2	2	6			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:33951084G>A	ENST00000300258.3	-	4	531	c.418C>T	c.(418-420)Ccc>Tcc	p.P140S	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						GCGTATTTGGGTATTGTCTCT	0.433													56	64					0	0	0	0	A	33951084	G	A	33951084	3	1	151	1	0	0	0	0	1	0	0	0	15805	1261	44	4	237	4	TCP10L	21	33951084	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	654213	33951084	14178811	110	27849											
MORC3	23515	broad.mit.edu	37	chr21	37736544	37736544	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagttccacctcagtctgaaCctgagagcaacaggtcagtg	12	8	10	11	0	3	2	2	2	1	1	4	3	4	2	3	1	3	2	3	1	3	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:37736544C>G	ENST00000400485.1	+	14	1682	c.1606C>G	c.(1606-1608)Cct>Gct	p.P536A	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	536					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TCAGTCTGAACCTGAGAGCAA	0.398													12	28					0	0	0	0	G	37736544	C	G	37736544	3	3	151	1	0	0	0	0	1	0	0	0	9773	507	18	4	1660	4	MORC3	21	37736544	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08	3785460	37736544	10393351	111	27850											
TMPRSS3	64699	broad.mit.edu	37	chr21	43795867	43795873	+	Frame_Shift_Del	DEL	GGTGTAC	GGTGTAC	-																															tccaggaaggaggtgacacgGgtgtacaccccaggcttgtt																										TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:43795867_43795873delGGTGTAC	ENST00000291532.3	-	12	2254_2260	c.1299_1305delGTACACC	c.(1297-1305)gtfs	p.VYT433fs	TMPRSS3_ENST00000398405.1_Frame_Shift_Del_p.VYT430fs|TMPRSS3_ENST00000380399.1_Frame_Shift_Del_p.VYT517fs|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Frame_Shift_Del_p.VYT432fs	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	433	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AGGTGACACGGGTGTACACCCCAGGCT	0.628													40	69	---	---	---	---					-	43795873	GGTGTAC	-	43795867	7	5	151	1	0	1	0	1	0	0	0	0	16342	1219	43	0	67	0	TMPRSS3	21	43795867	Frame_Shift_Del	DEL	GGTGTAC	TCGA-CQ-6228-01A-11D-1912-08	6059323	43795867	4334028	112	27851											
CLTCL1	8218	broad.mit.edu	37	chr22	19209568	19209568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatcacttcctcagaacaatCcacatcaagcagccctccaa	15	7	3	16	0	3	1	3	0	0	1	6	1	6	1	4	0	3	1	4	0	5	1			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr22:19209568C>G	ENST00000263200.10	-	16	2539	c.2467G>C	c.(2467-2469)Gat>Cat	p.D823H	CLTCL1_ENST00000353891.5_Missense_Mutation_p.D823H|CLTCL1_ENST00000427926.1_Missense_Mutation_p.D823H	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	823	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCAGAACAATCCACATCAAGC	0.443			T	?	ALCL								43	84					0	0	0	0	G	19209568	C	G	19209568	3	3	151	1	0	0	0	0	1	0	0	0	3597	855	30	2	2523	2	CLTCL1	22	19209568	Missense_Mutation	SNP	C	TCGA-CQ-6228-01A-11D-1912-08		19209568	32094998	113	27852											
NR0B1	190	broad.mit.edu	37	chrX	30326947	30326947	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttaccccctggcctctgCgcgaagtaggagcggtccca	6	9	11	15	3	2	0	0	0	2	0	3	2	3	1	4	3	3	1	4	3	3	3			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:30326947C>T	ENST00000378970.4	-	1	768	c.534G>A	c.(532-534)gcG>gcA	p.A178A	NR0B1_ENST00000453287.1_Silent_p.A178A	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	178	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CTGGCCTCTGCGCGAAGTAGG	0.677											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	9					0	0	0	0	T	30326947	C	T	30326947	2	4	151	1	0	0	0	0	0	0	0	1	10684	755	27	1		1	NR0B1	23	30326947	Silent	SNP	C	TCGA-CQ-6228-01A-11D-1912-08		30326947	124943613	114	27853											
UBQLN2	29978	broad.mit.edu	37	chrX	56591210	56591210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggagtagttcctcctctGgggaaggtacgcagccttcc	6	10	14	11	1	1	0	0	0	1	0	4	2	4	2	4	5	2	4	4	5	3	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:56591210G>A	ENST00000338222.5	+	1	1185	c.904G>A	c.(904-906)Ggg>Agg	p.G302R		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	302						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						TTCCTCCTCTGGGGAAGGTAC	0.567													22	25					0	0	0	0	A	56591210	G	A	56591210	3	1	151	1	0	0	0	0	1	0	0	0	16993	1348	47	4	906	4	UBQLN2	23	56591210	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	26264263	56591210	98679350	115	27854											
GPRASP1	9737	broad.mit.edu	37	chrX	101912582	101912582	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgaggaaacccttgcttaTagcgtggattccccggaaca	10	10	11	10	2	0	1	0	1	0	0	1	4	1	4	3	3	4	1	3	3	4	4			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:101912582T>C	ENST00000537097.1	+	6	4554	c.3741T>C	c.(3739-3741)taT>taC	p.Y1247Y	GPRASP1_ENST00000415986.1_Silent_p.Y1247Y|GPRASP1_ENST00000444152.1_Silent_p.Y1247Y|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.Y1247Y	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1247	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCCTTGCTTATAGCGTGGATT	0.408													27	61					0	0	0	0	C	101912582	T	C	101912582	2	2	151	1	0	0	0	0	0	0	0	1	6772	1413	49	5		5	GPRASP1	23	101912582	Silent	SNP	T	TCGA-CQ-6228-01A-11D-1912-08	45321372	101912582	53357978	116	27855											
FAM58A	92002	broad.mit.edu	37	chrX	152860037	152860037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaggagacctggaagcGcagaactctcagcatgagaa	14	5	13	9	1	1	3	1	1	1	3	2	7	1	5	1	3	3	2	1	3	4	0			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:152860037G>T	ENST00000406277.2	-	5	493	c.391C>A	c.(391-393)Cgc>Agc	p.R131S	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	133					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGGAAGCGCAGAACTCTC	0.537													8	98					5.18039e-06	8.95706e-06	1	0	T	152860037	G	T	152860037	3	4	151	1	0	0	0	0	1	0	0	0	5636	1087	38	3	361	3	FAM58A	23	152860037	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	50947455	152860037	2410523	117	27856											
SSR4	6748	broad.mit.edu	37	chrX	153063240	153063240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctatgaggttagattcttcGacgaggagtcctacagcctc	9	11	10	11	2	1	2	0	1	1	1	4	5	2	3	3	2	2	1	3	2	3	5			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:153063240G>A	ENST00000320857.3	+	5	1406	c.322G>A	c.(322-324)Gac>Aac	p.D108N	SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370087.1_Missense_Mutation_p.D108N|SSR4_ENST00000370085.3_Missense_Mutation_p.D83N|SSR4_ENST00000370086.3_Missense_Mutation_p.D108N	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	108					intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGATTCTTCGACGAGGAGTC	0.617													6	15					0	0	0	0	A	153063240	G	A	153063240	3	1	151	1	0	0	0	0	1	0	0	0	15283	1058	37	1	336	1	SSR4	23	153063240	Missense_Mutation	SNP	G	TCGA-CQ-6228-01A-11D-1912-08	203203	153063240	2207320	118	27857											
HRNR	388697	broad.mit.edu	37	chr1	152188526	152188527	+	Frame_Shift_Ins	INS	-	-	G																															acctgagccagacccatgtcINSggccactgctggaagaccaa																								rs145041332		TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr1:152188526_152188527insG	ENST00000368801.2	-	3	5653_5654	c.5578_5579insC	c.(5578-5580)acafs	p.T1860fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1860					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCATGTCGGCCACTGCTG	0.594													12	793	---	---	---	---					G	152188527	-	G	152188526	7	5	152	1	0	1	1	0	0	0	0	0	7409	884	31	0	2977	0	HRNR	1	152188526	Frame_Shift_Ins	INS	-	TCGA-CQ-6229-01A-11D-1912-08		152188526	97062095	1	27858											
TNR	7143	broad.mit.edu	37	chr1	175334302	175334302	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcttcctcctcatcccTggggctgtagttaagaatga	8	13	8	12	0	2	2	1	1	1	1	6	2	5	2	3	2	0	3	3	2	3	3			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr1:175334302T>G	ENST00000367674.1	-	12	3139	c.2431A>C	c.(2431-2433)Agg>Cgg	p.R811R	TNR_ENST00000263525.2_Silent_p.R811R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	811	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCTCATCCCTGGGGCTGTAG	0.522													17	48					0	0	0	0	G	175334302	T	G	175334302	2	3	152	1	0	0	0	0	0	0	0	1	16432	1579	55	5		5	TNR	1	175334302	Silent	SNP	T	TCGA-CQ-6229-01A-11D-1912-08	23145776	175334302	73916319	2	27859											
NUAK2	81788	broad.mit.edu	37	chr1	205290569	205290569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttcttcaccttcccgtagGtgcctttgcccagggtctcc	3	13	8	17	1	3	0	1	0	2	0	5	0	4	0	6	2	2	1	6	2	1	5			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr1:205290569G>A	ENST00000367157.3	-	1	314	c.188C>T	c.(187-189)aCc>aTc	p.T63I		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	63	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTTCCCGTAGGTGCCTTTGCC	0.697													7	42					0	0	0	0	A	205290569	G	A	205290569	3	1	152	1	0	0	0	0	1	0	0	0	10784	1261	44	4	1726	4	NUAK2	1	205290569	Missense_Mutation	SNP	G	TCGA-CQ-6229-01A-11D-1912-08	29956267	205290569	43960052	3	27860											
KIF1A	547	broad.mit.edu	37	chr2	241658530	241658530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgtacatgtaggcataggGgcgccgcaccaccacgaagc	10	6	13	12	3	0	0	0	0	0	0	0	1	0	0	3	3	2	5	3	3	4	4			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr2:241658530G>T	ENST00000498729.2	-	47	5353	c.5107C>A	c.(5107-5109)Ccc>Acc	p.P1703T	KIF1A_ENST00000320389.7_Missense_Mutation_p.P1602T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1602					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TAGGCATAGGGGCGCCGCACC	0.617													8	93					1.12685e-05	1.7415e-05	1	0	T	241658530	G	T	241658530	3	4	152	1	0	0	0	0	1	0	0	0	8334	1232	43	4	280	4	KIF1A	2	241658530	Missense_Mutation	SNP	G	TCGA-CQ-6229-01A-11D-1912-08		241658530	1540843	4	27861											
PLXNA1	5361	broad.mit.edu	37	chr3	126707784	126707784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtactgacaacgtcaacaaGctgctgctgctggactatgc	11	9	10	11	1	1	1	1	1	0	0	1	2	1	2	0	1	8	5	0	1	5	2			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr3:126707784G>T	ENST00000251772.4	+	1	348	c.279G>T	c.(277-279)aaG>aaT	p.K93N	PLXNA1_ENST00000393409.2_Missense_Mutation_p.K116N			Q9UIW2	PLXA1_HUMAN	plexin A1	116	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACGTCAACAAGCTGCTGCTGC	0.647													8	55					1.12685e-05	1.7415e-05	1	0	T	126707784	G	T	126707784	3	4	152	1	0	0	0	0	1	0	0	0	12191	962	34	4	350	4	PLXNA1	3	126707784	Missense_Mutation	SNP	G	TCGA-CQ-6229-01A-11D-1912-08		126707784	71314646	5	27862											
MFI2	4241	broad.mit.edu	37	chr3	196746661	196746661	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtccatgtttgccttcGtgatggactttctgatttaa	6	18	9	8	1	2	2	0	2	2	0	4	3	3	3	2	2	1	1	2	2	1	5	rs149352003		TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr3:196746661G>A	ENST00000296351.4	-	7	812	c.724C>T	c.(724-726)Cga>Tga	p.R242*	MFI2_ENST00000296350.5_Intron	NM_033316.3	NP_201573.1	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	587	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTTTGCCTTCGTGATGGACTT	0.468													6	56					0	0	0	0	A	196746661	G	A	196746661	4	1	152	1	0	0	0	0	0	1	0	0	9591	1153	40	1	1733	1	MFI2	3	196746661	Nonsense_Mutation	SNP	G	TCGA-CQ-6229-01A-11D-1912-08	70038877	196746661	1275769	6	27863											
UGT2B4	7363	broad.mit.edu	37	chr4	70355227	70355227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatgtgttactgaccatcGaccccagagaaaacaccaca	14	7	7	13	1	0	3	0	2	0	1	1	5	0	3	4	0	2	1	4	0	3	1			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr4:70355227G>A	ENST00000305107.6	-	3	978	c.932C>T	c.(931-933)tCg>tTg	p.S311L	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.S311L|UGT2B4_ENST00000381096.3_Missense_Mutation_p.S175L	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	311					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACTGACCATCGACCCCAGAGA	0.373													40	166					0	0	0	0	A	70355227	G	A	70355227	3	1	152	1	0	0	0	0	1	0	0	0	17057	1059	37	1	670	1	UGT2B4	4	70355227	Missense_Mutation	SNP	G	TCGA-CQ-6229-01A-11D-1912-08		70355227	120799049	7	27864											
STC2	8614	broad.mit.edu	37	chr5	172755126	172755126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggttggtggcgtcggtcCcccgcgccgggtcaaaggtg	3	8	19	11	5	1	0	1	0	0	0	3	0	2	0	3	6	0	1	3	6	1	1			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr5:172755126C>A	ENST00000265087.4	-	1	1380	c.71G>T	c.(70-72)gGg>gTg	p.G24V		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	24					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCGTCGGTCCCCCGCGCCGG	0.637													18	78					3.32936e-07	5.39039e-07	1	0	A	172755126	C	A	172755126	3	1	152	1	0	0	0	0	1	0	0	0	15366	623	22	4	853	4	STC2	5	172755126	Missense_Mutation	SNP	C	TCGA-CQ-6229-01A-11D-1912-08		172755126	8160134	8	27865											
SKIV2L	6499	broad.mit.edu	37	chr6	31928456	31928456	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcccaggggggatggatgaAcccaccataacagatctgaa	13	7	11	10	0	1	3	0	2	1	1	2	5	2	5	3	4	2	0	3	4	3	2			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr6:31928456A>G	ENST00000375394.2	+	6	596	c.483A>G	c.(481-483)gaA>gaG	p.E161E	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	161						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGATGGATGAACCCACCATAA	0.527													36	127					0	0	0	0	G	31928456	A	G	31928456	2	3	152	1	0	0	0	0	0	0	0	1	14447	40	2	5		5	SKIV2L	6	31928456	Silent	SNP	A	TCGA-CQ-6229-01A-11D-1912-08		31928456	139186611	9	27866											
SKIV2L	6499	broad.mit.edu	37	chr6	31931705	31931705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaccgcggagtgtacCtgtccctcctggcctccctc	4	9	10	18	2	0	0	0	0	0	0	5	2	4	2	7	3	1	1	7	3	1	1			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr6:31931705C>T	ENST00000375394.2	+	16	1776	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L	SKIV2L_ENST00000544581.1_Silent_p.L362L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	555						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CGGAGTGTACCTGTCCCTCCT	0.622													66	165					0	0	0	0	T	31931705	C	T	31931705	2	4	152	1	0	0	0	0	0	0	0	1	14447	680	24	4		4	SKIV2L	6	31931705	Silent	SNP	C	TCGA-CQ-6229-01A-11D-1912-08	3249	31931705	139183362	10	27867											
SCUBE3	222663	broad.mit.edu	37	chr6	35209013	35209013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgcccagcaggccagggtCggctgcactggaatggcaaa	9	5	14	13	1	0	0	0	0	0	0	1	1	0	1	3	5	3	4	3	5	2	0			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr6:35209013C>T	ENST00000274938.7	+	10	1165	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R405W	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	389	EGF-like 9; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGGCCAGGGTCGGCTGCACTG	0.582											OREG0017372	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	99					0	0	0	0	T	35209013	C	T	35209013	3	4	152	1	0	0	0	0	1	0	0	0	14033	875	31	1	1203	1	SCUBE3	6	35209013	Missense_Mutation	SNP	C	TCGA-CQ-6229-01A-11D-1912-08	3277308	35209013	135906054	11	27868											
FAM188B	84182	broad.mit.edu	37	chr7	30830851	30830851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaaccccaagaagagaGccggaaggtccctgagctct	12	4	10	15	1	1	3	0	1	1	2	2	5	2	4	5	2	3	1	5	2	4	0			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr7:30830851G>A	ENST00000265299.6	+	5	811	c.734G>A	c.(733-735)aGc>aAc	p.S245N	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	245										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAAGAAGAGAGCCGGAAGGTC	0.547													16	133					0	0	0	0	A	30830851	G	A	30830851	3	1	152	1	0	0	0	0	1	0	0	0	5557	971	34	4	752	4	FAM188B	7	30830851	Missense_Mutation	SNP	G	TCGA-CQ-6229-01A-11D-1912-08		30830851	128307812	12	27869											
ABCA13	154664	broad.mit.edu	37	chr7	48390325	48390325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtcaatctctcttcctgCgtggcactgaaccgtttcca	6	14	8	13	2	3	1	1	1	2	0	6	1	5	1	3	2	2	2	3	2	2	3			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr7:48390325C>T	ENST00000435803.1	+	30	10314	c.10290C>T	c.(10288-10290)tgC>tgT	p.C3430C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3430					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						TCTCTTCCTGCGTGGCACTGA	0.522													34	70					0	0	0	0	T	48390325	C	T	48390325	2	4	152	1	0	0	0	0	0	0	0	1	31	776	27	1		1	ABCA13	7	48390325	Silent	SNP	C	TCGA-CQ-6229-01A-11D-1912-08	17559474	48390325	110748338	13	27870											
SEMA3D	223117	broad.mit.edu	37	chr7	84651711	84651711	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagttttagcttacctgtTccaagaaacattacatcgta	12	15	5	9	1	1	1	0	0	1	1	3	1	2	1	2	0	4	4	2	0	7	7			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr7:84651711T>G	ENST00000284136.6	-	11	1453	c.1410A>C	c.(1408-1410)ggA>ggC	p.G470G	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	470	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GCTTACCTGTTCCAAGAAACA	0.333													20	124					0	0	0	0	G	84651711	T	G	84651711	2	3	152	1	0	0	0	0	0	0	0	1	14114	1770	62	5		5	SEMA3D	7	84651711	Silent	SNP	T	TCGA-CQ-6229-01A-11D-1912-08	36261386	84651711	74486952	14	27871											
ERICH1	157697	broad.mit.edu	37	chr8	642491	642491	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attttaccttctgtgtcatcCccgctggaggcgttctcggg	4	14	11	12	3	3	0	1	0	2	0	5	1	4	1	3	3	1	2	3	3	1	4			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr8:642491C>G	ENST00000262109.7	-	3	368	c.291G>C	c.(289-291)ggG>ggC	p.G97G	ERICH1_ENST00000522706.1_Intron|ERICH1_ENST00000518277.1_5'UTR	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	97										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTGTGTCATCCCCGCTGGAGG	0.557													6	88					0	0	0	0	G	642491	C	G	642491	2	3	152	1	0	0	0	0	0	0	0	1	5268	610	22	4		4	ERICH1	8	642491	Silent	SNP	C	TCGA-CQ-6229-01A-11D-1912-08		642491	145721531	15	27872											
RUNX1T1	862	broad.mit.edu	37	chr8	92988161	92988161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagatctcctctggcacGtatccagacgcaggcctgtg	7	10	10	14	2	2	2	0	0	2	2	5	2	4	2	4	2	0	3	4	2	1	2			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr8:92988161G>A	ENST00000523629.1	-	10	1774	c.1320C>T	c.(1318-1320)taC>taT	p.Y440Y	RUNX1T1_ENST00000422361.2_Silent_p.Y403Y|RUNX1T1_ENST00000518844.1_Silent_p.Y413Y|RUNX1T1_ENST00000396218.1_Silent_p.Y413Y|RUNX1T1_ENST00000436581.2_Silent_p.Y451Y|RUNX1T1_ENST00000360348.2_Silent_p.Y403Y|RUNX1T1_ENST00000265814.3_Silent_p.Y440Y|GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000520724.1_Silent_p.Y403Y	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	440					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)			CCTCTGGCACGTATCCAGACG	0.483													25	143					0	0	0	0	A	92988161	G	A	92988161	2	1	152	1	0	0	0	0	0	0	0	1	13832	1140	40	1		1	RUNX1T1	8	92988161	Silent	SNP	G	TCGA-CQ-6229-01A-11D-1912-08	92345670	92988161	53375861	16	27873											
CDKN2A	1029	broad.mit.edu	37	chr9	21971048	21971058	+	Frame_Shift_Del	DEL	GCCGCGCCCCG	GCCGCGCCCCG	-																															ccaggcatcgcgcacgtccaGccgcgccccggcccggtgca																								rs137854598		TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr9:21971048_21971058delGCCGCGCCCCG	ENST00000579755.1	-	2	635_645	c.343_353delCGGGGCGCGGC	c.(343-354)tfs	p.RGAA115fs	CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.AGARL100fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.AGARL100fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.AGARL100fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.AGARL49fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.AGARL49fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.AGARL49fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.RGAA115fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.RGAA156fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.AGARL49fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.AGARL49fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.AGARL100fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	131					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.A102V(3)|p.G101G(3)|p.A102A(2)|p.A102E(2)|p.L104fs*42(2)|p.H83fs*2(2)|p.R103Q(1)|p.A102fs*18(1)|p.R103R(1)|p.A102P(1)|p.0(1)|p.R103fs*43(1)|p.T93_D105del(1)|p.G101W(1)|p.A68fs*3(1)|p.A102T(1)|p.G101fs*17(1)|p.A102fs*42(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCACGTCCAGCCGCGCCCCGGCCCGGTGCA	0.758		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	38	---	---	---	---					-	21971058	GCCGCGCCCCG	-	21971048	7	5	152	1	0	1	0	1	0	0	0	0	3190	971	34	0	168	0	CDKN2A	9	21971048	Frame_Shift_Del	DEL	GCCGCGCCCCG	TCGA-CQ-6229-01A-11D-1912-08		21971048	119242383	17	27874											
NR6A1	2649	broad.mit.edu	37	chr9	127287138	127287138	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagctgtgaggcactggTcagacccctgatatctgtgg	7	11	12	11	0	2	3	1	2	1	1	3	3	3	3	3	3	1	2	3	3	1	2			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr9:127287138T>G	ENST00000487099.2	-	9	1373	c.1216A>C	c.(1216-1218)Acc>Ccc	p.T406P	NR6A1_ENST00000344523.4_Missense_Mutation_p.T405P|NR6A1_ENST00000416460.2_Missense_Mutation_p.T401P|NR6A1_ENST00000373584.3_Missense_Mutation_p.T402P	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	406					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GAGGCACTGGTCAGACCCCTG	0.413													11	22					0	0	0	0	G	127287138	T	G	127287138	3	3	152	1	0	0	0	0	1	0	0	0	10708	1667	58	5	234	5	NR6A1	9	127287138	Missense_Mutation	SNP	T	TCGA-CQ-6229-01A-11D-1912-08	105316090	127287138	13926293	18	27875											
EFCAB4A	283229	broad.mit.edu	37	chr11	828915	828915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtttgaaagtctggacCgggctcacactggcttcctc	6	12	11	12	1	2	1	1	1	1	0	4	2	3	2	2	3	0	3	2	3	1	2			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr11:828915C>T	ENST00000450448.1	+	3	734	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	AP006621.8_ENST00000532946.1_RNA|EFCAB4A_ENST00000525077.1_Missense_Mutation_p.R77W|EFCAB4A_ENST00000528542.2_Missense_Mutation_p.R77W	NM_173584.3	NP_775855.3	Q8N4Y2	EFC4A_HUMAN	EF-hand calcium binding domain 4A	77	EF-hand 2.		R -> Q (in dbSNP:rs7126805).		store-operated calcium entry		calcium ion binding			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTCTGGACCGGGCTCACAC	0.657													7	91					0	0	0	0	T	828915	C	T	828915	3	4	152	1	0	0	0	0	1	0	0	0	4972	643	23	1	235	1	EFCAB4A	11	828915	Missense_Mutation	SNP	C	TCGA-CQ-6229-01A-11D-1912-08		828915	134177601	19	27876											
CPT1A	1374	broad.mit.edu	37	chr11	68548198	68548198	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagacaacaaacgtgaaCgacttgtcaaaccacctacg	16	7	7	11	3	1	3	1	2	0	1	1	4	1	3	2	0	5	0	2	0	6	3			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr11:68548198C>T	ENST00000265641.5	-	12	1522	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	CPT1A_ENST00000376618.2_Silent_p.S456S|CPT1A_ENST00000540367.1_Silent_p.S456S|CPT1A_ENST00000539743.1_Silent_p.S456S	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	456					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CAAACGTGAACGACTTGTCAA	0.493													15	53					0	0	0	0	T	68548198	C	T	68548198	2	4	152	1	0	0	0	0	0	0	0	1	3861	523	19	1		1	CPT1A	11	68548198	Silent	SNP	C	TCGA-CQ-6229-01A-11D-1912-08	67719283	68548198	66458318	20	27877											
UCP3	7352	broad.mit.edu	37	chr11	73717220	73717220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggtcactcactgtccgCgcctttgggggtgtacacct	5	11	11	14	2	2	0	2	0	0	0	3	0	3	0	4	3	1	1	4	3	1	2			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr11:73717220C>T	ENST00000314032.4	-	3	883	c.331G>A	c.(331-333)Gcg>Acg	p.A111T	UCP3_ENST00000426995.2_Missense_Mutation_p.A111T|UCP3_ENST00000348534.4_Missense_Mutation_p.A111T	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	111					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCACTGTCCGCGCCTTTGGGG	0.612													15	34					0	0	0	0	T	73717220	C	T	73717220	3	4	152	1	0	0	0	0	1	0	0	0	17028	768	27	1	631	1	UCP3	11	73717220	Missense_Mutation	SNP	C	TCGA-CQ-6229-01A-11D-1912-08	5169022	73717220	61289296	21	27878											
UPF3A	65110	broad.mit.edu	37	chr13	115048325	115048325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttcagtctttatcctcatCtctactcaagagcatacatt	11	16	3	11	0	5	1	3	0	2	1	7	1	6	1	1	0	3	1	1	0	4	6			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr13:115048325C>T	ENST00000375299.3	+	3	384	c.328C>T	c.(328-330)Ctc>Ttc	p.L110F	UPF3A_ENST00000351487.5_Missense_Mutation_p.L110F	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	110	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		TTATCCTCATCTCTACTCAAG	0.343													8	45					0	0	0	0	T	115048325	C	T	115048325	3	4	152	1	0	0	0	0	1	0	0	0	17101	913	32	2	338	2	UPF3A	13	115048325	Missense_Mutation	SNP	C	TCGA-CQ-6229-01A-11D-1912-08		115048325	121553	22	27879											
ZSCAN2	54993	broad.mit.edu	37	chr15	85165178	85165178	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatccacactggggagaaGccctacaaatgccccgagtg	12	5	11	13	2	0	1	0	0	0	1	1	4	1	1	4	2	3	0	4	2	4	1			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr15:85165178G>A	ENST00000448803.2	+	3	2044	c.1752G>A	c.(1750-1752)aaG>aaA	p.K584K	ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Silent_p.K583K|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.K434K|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.K584K	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	584					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CTGGGGAGAAGCCCTACAAAT	0.483													10	71					0	0	0	0	A	85165178	G	A	85165178	2	1	152	1	0	0	0	0	0	0	0	1	18323	962	34	4		4	ZSCAN2	15	85165178	Silent	SNP	G	TCGA-CQ-6229-01A-11D-1912-08		85165178	17366214	23	27880											
C15orf32	145858	broad.mit.edu	37	chr15	93015669	93015669	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagtggatggtttgatgctGaagccaacattgttaacacc	11	11	11	8	1	0	2	0	2	0	0	0	4	0	3	2	2	4	3	2	2	3	3			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr15:93015669G>A	ENST00000333334.2	+	1	786	c.291G>A	c.(289-291)ctG>ctA	p.L97L	C15orf32_ENST00000556865.1_Silent_p.L97L	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	97										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			GTTTGATGCTGAAGCCAACAT	0.428													4	75					0	0	0	0	A	93015669	G	A	93015669	2	1	152	1	0	0	0	0	0	0	0	1	1802	1277	45	2		2	C15orf32	15	93015669	Silent	SNP	G	TCGA-CQ-6229-01A-11D-1912-08	7850491	93015669	9515723	24	27881											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	9					0	0	0	0	A	7578212	G	A	7578212	4	1	152	1	0	0	0	0	0	1	0	0	16476	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-CQ-6229-01A-11D-1912-08		7578212	73616998	25	27882											
ALOXE3	59344	broad.mit.edu	37	chr17	8000028	8000028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggttccgctcctggatgtCccttgagatctgggccaggc	4	11	13	13	1	1	1	0	1	1	1	4	3	4	2	4	4	0	2	4	4	0	2			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr17:8000028C>T	ENST00000380149.1	-	15	2551	c.2521G>A	c.(2521-2523)Gac>Aac	p.D841N	ALOXE3_ENST00000448843.2_Missense_Mutation_p.D685N|ALOXE3_ENST00000318227.3_Missense_Mutation_p.D817N			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	685					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TCCTGGATGTCCCTTGAGATC	0.632													7	138					0	0	0	0	T	8000028	C	T	8000028	3	4	152	1	0	0	0	0	1	0	0	0	542	855	30	2	86	2	ALOXE3	17	8000028	Missense_Mutation	SNP	C	TCGA-CQ-6229-01A-11D-1912-08	421816	8000028	73195182	26	27883											
CCL3	6348	broad.mit.edu	37	chr17	34416628	34416628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgaagcagcaggcggtcGgcgtgtcagcagcaactgtg	9	6	16	10	3	1	1	1	1	0	0	2	1	1	1	0	3	6	5	0	3	2	0			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr17:34416628G>A	ENST00000225245.5	-	2	171	c.89C>T	c.(88-90)cCg>cTg	p.P30L	AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000590992.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	30					cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCAGGCGGTCGGCGTGTCAGC	0.552													14	147					0	0	0	0	A	34416628	G	A	34416628	3	1	152	1	0	0	0	0	1	0	0	0	2928	1116	39	1	197	1	CCL3	17	34416628	Missense_Mutation	SNP	G	TCGA-CQ-6229-01A-11D-1912-08	26416600	34416628	46778582	27	27884											
KRT28	162605	broad.mit.edu	37	chr17	38950249	38950249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggatctgcgccagctgcGtacagtagttgctctcggtc	5	11	12	13	3	2	0	0	0	2	0	4	1	2	1	2	2	5	5	2	2	2	3			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr17:38950249G>A	ENST00000306658.7	-	6	1093	c.1028C>T	c.(1027-1029)aCg>aTg	p.T343M		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	343	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CGCCAGCTGCGTACAGTAGTT	0.572													39	154					0	0	0	0	A	38950249	G	A	38950249	3	1	152	1	0	0	0	0	1	0	0	0	8517	1145	40	1	378	1	KRT28	17	38950249	Missense_Mutation	SNP	G	TCGA-CQ-6229-01A-11D-1912-08	4533621	38950249	42244961	28	27885											
SEPT4	5414	broad.mit.edu	37	chr17	56604314	56604314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagttctccatcatccGtggtgtcctccaggaaacgc	7	11	9	14	2	3	0	2	0	1	0	7	1	6	1	4	2	2	2	4	2	1	1			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr17:56604314G>A	ENST00000426861.1	-	2	115	c.29C>T	c.(28-30)aCg>aTg	p.T10M	SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000317268.3_Missense_Mutation_p.T29M|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000583114.1_De_novo_Start_InFrame|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000457347.2_Missense_Mutation_p.T44M|SEPT4_ENST00000412945.3_Missense_Mutation_p.T21M|SEPT4_ENST00000393086.1_Missense_Mutation_p.T10M|SEPT4_ENST00000580844.1_Intron|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000317256.6_Missense_Mutation_p.T10M	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN	septin 4	29					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCATCATCCGTGGTGTCCTC	0.582													13	129					0	0	0	0	A	56604314	G	A	56604314	3	1	152	1	0	0	0	0	1	0	0	0	14153	1145	40	1	1479	1	SEPT4	17	56604314	Missense_Mutation	SNP	G	TCGA-CQ-6229-01A-11D-1912-08	17654065	56604314	24590896	29	27886											
PIAS4	51588	broad.mit.edu	37	chr19	4013192	4013192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgctgtgcccaggactcCgctggcaggccccaatattg	6	7	13	15	3	0	0	0	0	0	0	1	1	1	1	4	4	1	3	4	4	2	2	rs2289867		TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr19:4013192C>T	ENST00000262971.2	+	2	414	c.299C>T	c.(298-300)cCg>cTg	p.P100L		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	100					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGACTCCGCTGGCAGGC	0.652													5	88					0	0	0	0	T	4013192	C	T	4013192	3	4	152	1	0	0	0	0	1	0	0	0	11950	652	23	1	305	1	PIAS4	19	4013192	Missense_Mutation	SNP	C	TCGA-CQ-6229-01A-11D-1912-08		4013192	55115791	30	27887											
CLC	1178	broad.mit.edu	37	chr19	40224981	40224981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attcttggccatcctgaaagGgcatattcttggattccacc	9	13	8	11	0	2	1	0	1	2	0	4	2	4	2	4	3	0	1	4	3	2	6			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr19:40224981G>A	ENST00000221804.4	-	3	320	c.245C>T	c.(244-246)cCc>cTc	p.P82L		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	82	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ATCCTGAAAGGGCATATTCTT	0.537													9	90					0	0	0	0	A	40224981	G	A	40224981	3	1	152	1	0	0	0	0	1	0	0	0	3486	1232	43	4	191	4	CLC	19	40224981	Missense_Mutation	SNP	G	TCGA-CQ-6229-01A-11D-1912-08	36211789	40224981	18904002	31	27888											
MAPRE1	22919	broad.mit.edu	37	chr20	31424527	31424528	+	Frame_Shift_Del	DEL	TA	TA	-																															agaagtttttcgatgcaaacTatgatggaaaagactatgac																								rs142135206		TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr20:31424527_31424528delTA	ENST00000375571.5	+	4	494_495	c.355_356delTA	c.(355-357)tfs	p.Y119fs		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	119					cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						CGATGCAAACTATGATGGAAAA	0.411													14	111	---	---	---	---					-	31424528	TA	-	31424527	7	5	152	1	0	1	0	1	0	0	0	0	9363	1522	53	0	365	0	MAPRE1	20	31424527	Frame_Shift_Del	DEL	TA	TCGA-CQ-6229-01A-11D-1912-08		31424527	31600993	32	27889											
APCDD1L	164284	broad.mit.edu	37	chr20	57035926	57035926	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgaagaccccctgtgctggGgtgcttctgcagcgatggcc	5	9	15	12	1	1	2	0	1	1	1	1	3	1	2	3	3	4	3	3	3	1	1			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr20:57035926G>C	ENST00000371149.3	-	4	1656	c.1426C>G	c.(1426-1428)Ccc>Gcc	p.P476A	APCDD1L_ENST00000439429.1_Missense_Mutation_p.P487A	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	476						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CCTGTGCTGGGGTGCTTCTGC	0.612													12	55					0	0	0	0	C	57035926	G	C	57035926	3	2	152	1	0	0	0	0	1	0	0	0	767	1232	43	4	83	4	APCDD1L	20	57035926	Missense_Mutation	SNP	G	TCGA-CQ-6229-01A-11D-1912-08	25611399	57035926	5989594	33	27890											
MORC2	22880	broad.mit.edu	37	chr22	31328614	31328614	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatgcggaggcattcggAagtggagggctctgcgacag	9	7	16	9	3	2	0	1	0	1	0	3	4	2	3	0	5	2	2	0	5	2	1			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr22:31328614A>C	ENST00000215862.4	-	24	3842	c.2479T>G	c.(2479-2481)Tcc>Gcc	p.S827A	MORC2_ENST00000397641.2_Missense_Mutation_p.S889A	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	889							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AGGCATTCGGAAGTGGAGGGC	0.592													8	62					0	0	0	0	C	31328614	A	C	31328614	3	2	152	1	0	0	0	0	1	0	0	0	9772	246	9	5	449	5	MORC2	22	31328614	Missense_Mutation	SNP	A	TCGA-CQ-6229-01A-11D-1912-08		31328614	19975952	34	27891											
ZNF185	7739	broad.mit.edu	37	chrX	152083334	152083334	+	Frame_Shift_Del	DEL	A	A	-																															gaaccacgctgaagggggacAagagctggattaccaagcag																										TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chrX:152083334delA	ENST00000535861.1	+	2	163	c.115delA	c.(115-117)agfs	p.K39fs	ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000539731.1_Frame_Shift_Del_p.K39fs|ZNF185_ENST00000449285.2_Frame_Shift_Del_p.K39fs|ZNF185_ENST00000370268.4_Frame_Shift_Del_p.K39fs|ZNF185_ENST00000318504.7_Frame_Shift_Del_p.K39fs	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	39						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGGGGACAAGAGCTGGAT	0.607													2	4	---	---	---	---					-	152083334	A	-	152083334	7	5	152	1	0	1	0	1	0	0	0	0	17847	131	5	0	121	0	ZNF185	23	152083334	Frame_Shift_Del	DEL	A	TCGA-CQ-6229-01A-11D-1912-08		152083334	3187226	35	27892											
SPEN	23013	broad.mit.edu	37	chr1	16258246	16258246	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgcagtgagtatcgtggaGaagcccgtcacaaggaagag	12	6	15	8	2	1	3	1	1	0	2	2	5	1	4	1	2	2	3	1	2	4	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:16258246G>A	ENST00000375759.3	+	11	5715	c.5511G>A	c.(5509-5511)gaG>gaA	p.E1837E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1837					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTATCGTGGAGAAGCCCGTCA	0.483													5	63					0	0	0	0	A	16258246	G	A	16258246	2	1	153	1	0	0	0	0	0	0	0	1	15128	933	33	2		2	SPEN	1	16258246	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08		16258246	232992375	1	27893											
NBPF1	55672	broad.mit.edu	37	chr1	16893758	16893758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggcatgagtcagtcagttCaagataacctgaaggagttg	12	10	12	7	0	3	3	3	2	0	1	3	4	3	4	1	2	1	3	1	2	3	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:16893758C>G	ENST00000430580.2	-	25	3642	c.2755G>C	c.(2755-2757)Gaa>Caa	p.E919Q	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	919	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCAGTCAGTTCAAGATAACCT	0.493													24	1036					0	0	0	0	G	16893758	C	G	16893758	3	3	153	1	0	0	0	0	1	0	0	0	10262	835	29	2	689	2	NBPF1	1	16893758	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	635512	16893758	232356863	2	27894											
TMEM57	55219	broad.mit.edu	37	chr1	25780788	25780788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagtgtctctctggatcCtctttgtttatattgaagca	8	17	7	9	0	3	1	0	1	3	0	5	2	4	2	1	1	2	2	1	1	4	6			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:25780788C>T	ENST00000374343.4	+	4	567	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Missense_Mutation_p.L130F	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	130						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTGGATCCTCTTTGTTTA	0.383													24	62					0	0	0	0	T	25780788	C	T	25780788	3	4	153	1	0	0	0	0	1	0	0	0	16278	681	24	4	402	4	TMEM57	1	25780788	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	8887030	25780788	223469833	3	27895											
EXTL1	2134	broad.mit.edu	37	chr1	26355755	26355755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccgtcccgaggctgcctCgcgcttcctccaagccctgc	4	7	9	21	4	0	0	0	0	0	0	4	1	3	0	7	1	3	2	7	1	1	1	rs147835535		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:26355755C>T	ENST00000374280.3	+	2	1718	c.851C>T	c.(850-852)tCg>tTg	p.S284L	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	284					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	p.S284L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCTGCCTCGCGCTTCCTC	0.632													16	83					0	0	0	0	T	26355755	C	T	26355755	3	4	153	1	0	0	0	0	1	0	0	0	5363	893	31	1	857	1	EXTL1	1	26355755	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	574967	26355755	222894866	4	27896											
STX12	23673	broad.mit.edu	37	chr1	28148834	28148834	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctggctagtttataaaacGaagtgattgcctccgatcgt	11	13	9	8	3	1	1	0	1	1	0	3	3	2	1	2	1	2	2	2	1	5	5			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:28148834G>A	ENST00000373943.4	+	9	950	c.825G>A	c.(823-825)acG>acA	p.T275T		NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	275					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		TTTATAAAACGAAGTGATTGC	0.418													10	93					0	0	0	0	A	28148834	G	A	28148834	2	1	153	1	0	0	0	0	0	0	0	1	15428	1045	37	1		1	STX12	1	28148834	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	1793079	28148834	221101787	5	27897											
RRAGC	64121	broad.mit.edu	37	chr1	39305258	39305258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtggcgtgccattgtgtgtCagcgctttcagactggaggc	5	11	15	10	3	2	1	2	0	0	1	2	2	2	2	1	3	2	1	1	3	0	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:39305258C>T	ENST00000373001.3	-	7	1343	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L	RRAGC_ENST00000474456.1_5'UTR	NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	389					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				CATTGTGTGTCAGCGCTTTCA	0.542													7	55					0	0	0	0	T	39305258	C	T	39305258	2	4	153	1	0	0	0	0	0	0	0	1	13759	813	29	2		2	RRAGC	1	39305258	Silent	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	11156424	39305258	209945363	6	27898											
HIPK1	204851	broad.mit.edu	37	chr1	114483273	114483273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atattgttgtaacagccgctGatagctcgggcagtgctgct	8	12	12	9	2	0	1	0	1	0	0	1	1	0	1	1	1	5	7	1	1	3	5			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:114483273G>C	ENST00000369558.1	+	2	500	c.268G>C	c.(268-270)Gat>Cat	p.D90H	HIPK1_ENST00000426820.2_Missense_Mutation_p.D90H|HIPK1_ENST00000369555.2_Missense_Mutation_p.D90H|HIPK1_ENST00000369559.4_Missense_Mutation_p.D90H|HIPK1_ENST00000369561.4_Missense_Mutation_p.D90H|HIPK1_ENST00000369554.2_Missense_Mutation_p.D90H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACAGCCGCTGATAGCTCGGG	0.507													18	97					0	0	0	0	C	114483273	G	C	114483273	3	2	153	1	0	0	0	0	1	0	0	0	7166	1290	45	2	270	2	HIPK1	1	114483273	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	75178015	114483273	134767348	7	27899											
PRCC	5546	broad.mit.edu	37	chr1	156756563	156756563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcttctaagaccaagacttCctctcttgcccctgttgtgg	6	13	9	13	0	2	2	0	0	2	2	4	2	3	2	4	2	1	2	4	2	2	5			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:156756563C>T	ENST00000271526.4	+	3	952	c.680C>T	c.(679-681)tCc>tTc	p.S227F	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.S227F	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	227					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCAAGACTTCCTCTCTTGCC	0.582			T	TFE3	papillary renal								21	79					0	0	0	0	T	156756563	C	T	156756563	3	4	153	1	0	0	0	0	1	0	0	0	12527	855	30	2	690	2	PRCC	1	156756563	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	42273290	156756563	92494058	8	27900											
RGS5	8490	broad.mit.edu	37	chr1	163131767	163131767	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcctcgtccagcgaggttCtacatcaataataaggagag	12	8	12	9	2	2	1	1	0	1	1	4	3	3	1	2	3	2	1	2	3	4	4			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:163131767C>G	ENST00000313961.5	-	3	433		c.e3-1		RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000530507.1_Splice_Site|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000367903.3_Splice_Site|RGS5_ENST00000534288.1_Splice_Site	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5						negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CAGCGAGGTTCTACATCAATA	0.423													7	39					0	0	0	0	G	163131767	C	G	163131767	5	3	153	1	0	0	0	0	0	0	1	0	13391	927	32	2	402	2	RGS5	1	163131767	Splice_Site	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	6375204	163131767	86118854	9	27901											
XCL1	6375	broad.mit.edu	37	chr1	168545890	168545890	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagccatgagacttctcatCctggccctccttggcatctg	6	12	8	15	0	3	1	2	1	2	1	6	2	5	1	4	2	1	1	4	2	0	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:168545890C>T	ENST00000367818.3	+	1	180	c.15C>T	c.(13-15)atC>atT	p.I5I		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	5					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GACTTCTCATCCTGGCCCTCC	0.537													11	81					0	0	0	0	T	168545890	C	T	168545890	2	4	153	1	0	0	0	0	0	0	0	1	17519	845	30	2		2	XCL1	1	168545890	Silent	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	5414123	168545890	80704731	10	27902											
USH2A	7399	broad.mit.edu	37	chr1	216221935	216221935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtacagccagccaaagtgCaagcagttagggttactgca	13	7	11	10	0	0	0	0	0	0	0	0	0	0	0	2	1	7	6	2	1	5	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:216221935C>A	ENST00000366943.2	-	31	6490	c.6104G>T	c.(6103-6105)tGc>tTc	p.C2035F	USH2A_ENST00000307340.3_Missense_Mutation_p.C2035F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2035	Fibronectin type-III 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCCAAAGTGCAAGCAGTTAG	0.413										HNSCC(13;0.011)			24	113					6.12954e-19	6.61859e-19	1	0	A	216221935	C	A	216221935	3	1	153	1	0	0	0	0	1	0	0	0	17132	710	25	4	9672	4	USH2A	1	216221935	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	47676045	216221935	33028686	11	27903											
OR2C3	81472	broad.mit.edu	37	chr1	247695156	247695156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggcccgggcaatgtggcCgtaagagaccaggatgagcc	10	4	15	12	3	0	2	0	1	0	1	0	4	0	3	4	4	1	2	4	4	2	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:247695156C>T	ENST00000366487.3	-	2	1019	c.658G>A	c.(658-660)Ggc>Agc	p.G220S	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCAATGTGGCCGTAAGAGACC	0.542													4	77					0	0	0	0	T	247695156	C	T	247695156	3	4	153	1	0	0	0	0	1	0	0	0	11064	652	23	1	308	1	OR2C3	1	247695156	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	31473221	247695156	1555465	12	27904											
ASXL2	55252	broad.mit.edu	37	chr2	26022288	26022288	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcttttttccctccttGttgctgccaccatcactgct	3	17	5	16	0	2	0	1	0	1	0	4	0	4	0	4	0	4	4	4	0	0	5			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:26022288G>A	ENST00000435504.4	-	5	662	c.369C>T	c.(367-369)aaC>aaT	p.N123N	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_Silent_p.N95N			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	123	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCCTCCTTGTTGCTGCCAC	0.458													4	164					0	0	0	0	A	26022288	G	A	26022288	2	1	153	1	0	0	0	0	0	0	0	1	1071	1368	48	4		4	ASXL2	2	26022288	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08		26022288	217177085	13	27905											
GALNT14	79623	broad.mit.edu	37	chr2	31181273	31181273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgacttacggtcattgctGaagtcatccactaatatgat	12	13	7	9	1	2	3	2	3	0	0	3	3	3	3	1	1	2	1	1	1	4	4			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:31181273G>A	ENST00000349752.5	-	4	1095	c.456C>T	c.(454-456)ttC>ttT	p.F152F	GALNT14_ENST00000356174.3_Silent_p.F119F|GALNT14_ENST00000324589.5_Silent_p.F157F|GALNT14_ENST00000406653.1_Silent_p.F132F|GALNT14_ENST00000420311.2_Silent_p.F117F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	152	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGTCATTGCTGAAGTCATCCA	0.458													16	45					0	0	0	0	A	31181273	G	A	31181273	2	1	153	1	0	0	0	0	0	0	0	1	6261	1281	45	2		2	GALNT14	2	31181273	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	5158985	31181273	212018100	14	27906											
SMEK2	57223	broad.mit.edu	37	chr2	55804493	55804493	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgatccaactatattatCtaataaaaaaattaaaaatt	20	15	2	4	0	1	1	0	1	1	0	2	1	2	1	1	0	1	1	1	0	12	8			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:55804493C>T	ENST00000272313.5	-	10	1796		c.e10-1		SMEK2_ENST00000407823.3_Splice_Site|SMEK2_ENST00000345102.5_Splice_Site	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)							microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACtatattatctaataaaaaa	0.234													5	14					0	0	0	0	T	55804493	C	T	55804493	5	4	153	1	0	0	0	0	0	0	1	0	14882	927	32	2	1013	2	SMEK2	2	55804493	Splice_Site	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	24623220	55804493	187394880	15	27907											
CCT4	10575	broad.mit.edu	37	chr2	62096646	62096646	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcactgactgataccaacaGaggctggacaaccagttcct	13	7	9	12	0	0	3	0	2	0	1	1	4	1	4	3	2	4	3	3	2	3	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:62096646G>A	ENST00000394440.3	-	13	1830	c.1534C>T	c.(1534-1536)Ctg>Ttg	p.L512L	CCT4_ENST00000538252.1_Silent_p.L456L|CCT4_ENST00000544185.1_Silent_p.L362L|CCT4_ENST00000544079.1_Silent_p.L482L|CCT4_ENST00000461540.2_5'UTR|AC107081.5_ENST00000425779.1_RNA	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	512					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			GATACCAACAGAGGCTGGACA	0.418													11	60					0	0	0	0	A	62096646	G	A	62096646	2	1	153	1	0	0	0	0	0	0	0	1	2984	933	33	2		2	CCT4	2	62096646	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	6292153	62096646	181102727	16	27908											
LCT	3938	broad.mit.edu	37	chr2	136587242	136587242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagagaggaaatcgaccGtgtcctgaaaatagtagtta	16	8	11	6	2	0	3	0	1	0	2	2	6	1	4	2	1	0	2	2	1	7	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:136587242G>A	ENST00000264162.2	-	3	735	c.725C>T	c.(724-726)aCg>aTg	p.T242M		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	242	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAAATCGACCGTGTCCTGAAA	0.418													18	63					0	0	0	0	A	136587242	G	A	136587242	3	1	153	1	0	0	0	0	1	0	0	0	8746	1145	40	1	5118	1	LCT	2	136587242	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	74490596	136587242	106612131	17	27909											
LRP1B	53353	broad.mit.edu	37	chr2	141709461	141709461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccatttgctgctaatgcatCttccacttttgcatacgaat	9	15	6	11	1	1	0	0	0	1	0	2	1	2	0	2	0	5	4	2	0	3	6			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:141709461C>G	ENST00000389484.3	-	19	3907	c.2936G>C	c.(2935-2937)aGa>aCa	p.R979T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	979	LDL-receptor class A 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTAATGCATCTTCCACTTTT	0.448										TSP Lung(27;0.18)			8	50					0	0	0	0	G	141709461	C	G	141709461	3	3	153	1	0	0	0	0	1	0	0	0	9019	913	32	2	11155	2	LRP1B	2	141709461	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	5122219	141709461	101489912	18	27910											
SCN1A	6323	broad.mit.edu	37	chr2	166929997	166929997	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggctttgggccattttcGtcgtcatcttttttgtctgg	2	21	10	8	2	3	0	1	0	2	0	5	0	3	0	1	3	0	1	1	3	0	7			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:166929997G>A	ENST00000423058.2	-	1	152	c.135C>T	c.(133-135)gaC>gaT	p.D45D	SCN1A_ENST00000303395.4_Silent_p.D45D|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.D45D|SCN1A_ENST00000375405.3_Silent_p.D45D	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	45						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D45D(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGCCATTTTCGTCGTCATCTT	0.448													29	158					0	0	0	0	A	166929997	G	A	166929997	2	1	153	1	0	0	0	0	0	0	0	1	14001	1136	40	1		1	SCN1A	2	166929997	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	25220536	166929997	76269376	19	27911											
TTN	7273	broad.mit.edu	37	chr2	179639753	179639753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcagtatggagaggaagtGaacctttctgtcagagtgca	11	10	14	6	0	3	3	2	1	1	2	3	5	3	4	1	3	2	2	1	3	3	2	rs56851316		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:179639753G>A	ENST00000589042.1	-	29	6909	c.6685C>T	c.(6685-6687)Cac>Tac	p.H2229Y	TTN_ENST00000359218.5_Missense_Mutation_p.H2183Y|TTN_ENST00000342992.6_Missense_Mutation_p.H2229Y|TTN_ENST00000591111.1_Missense_Mutation_p.H2229Y|TTN_ENST00000360870.5_Missense_Mutation_p.H2229Y|TTN_ENST00000460472.2_Missense_Mutation_p.H2183Y|TTN_ENST00000342175.6_Missense_Mutation_p.H2183Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1966	Ig-like 11.						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)			GAGAGGAAGTGAACCTTTCTG	0.388													7	77					0	0	0	0	A	179639753	G	A	179639753	3	1	153	1	0	0	0	0	1	0	0	0	16831	1290	45	2	104639	2	TTN	2	179639753	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	12709756	179639753	63559620	20	27912											
MFF	56947	broad.mit.edu	37	chr2	228212087	228212087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagatcttggatgtgctgGatgaaaatcgcaggtgattg	11	11	14	5	1	1	3	0	2	1	1	2	5	1	5	0	3	2	3	0	3	2	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:228212087G>T	ENST00000353339.3	+	8	1180	c.739G>T	c.(739-741)Gat>Tat	p.D247Y	MFF_ENST00000524634.1_Intron|MFF_ENST00000337110.7_Intron|MFF_ENST00000409616.1_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.D247Y|MFF_ENST00000349901.7_Intron|MFF_ENST00000354503.6_Intron|MFF_ENST00000409565.1_Intron|MFF_ENST00000304593.9_Missense_Mutation_p.D196Y	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	247						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GGATGTGCTGGATGAAAATCG	0.448													22	91					3.6726e-16	3.92389e-16	1	0	T	228212087	G	T	228212087	3	4	153	1	0	0	0	0	1	0	0	0	9588	1174	41	2	761	2	MFF	2	228212087	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	48572334	228212087	14987286	21	27913											
COL6A3	1293	broad.mit.edu	37	chr2	238249328	238249328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctccggcacctcgcccGtcagcatcaggaccacaatt	8	7	9	17	3	2	0	2	0	0	0	4	1	3	1	4	2	2	4	4	2	1	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:238249328G>A	ENST00000295550.4	-	38	8683	c.8231C>T	c.(8230-8232)aCg>aTg	p.T2744M	COL6A3_ENST00000472056.1_Missense_Mutation_p.T2137M|COL6A3_ENST00000353578.4_Missense_Mutation_p.T2538M|COL6A3_ENST00000347401.3_Missense_Mutation_p.T2543M|COL6A3_ENST00000409809.1_Missense_Mutation_p.T2538M|COL6A3_ENST00000346358.4_Missense_Mutation_p.T2544M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2744	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CACCTCGCCCGTCAGCATCAG	0.567													21	62					0	0	0	0	A	238249328	G	A	238249328	3	1	153	1	0	0	0	0	1	0	0	0	3731	1145	40	1	1330	1	COL6A3	2	238249328	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	10037241	238249328	4950045	22	27914											
SLC22A14	9389	broad.mit.edu	37	chr3	38349158	38349158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacctgtatttgttctttcGctttggcatctcgcagtcag	5	17	8	11	2	4	0	2	0	2	0	6	0	4	0	1	1	0	5	1	1	1	5	rs146612743		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:38349158G>A	ENST00000273173.4	+	3	813	c.722G>A	c.(721-723)cGc>cAc	p.R241H	SLC22A14_ENST00000448498.1_Missense_Mutation_p.R241H	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	241						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TTGTTCTTTCGCTTTGGCATC	0.572													33	122					0	0	0	0	A	38349158	G	A	38349158	3	1	153	1	0	0	0	0	1	0	0	0	14533	1087	38	1	732	1	SLC22A14	3	38349158	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08		38349158	159673272	23	27915											
ACVR2B	93	broad.mit.edu	37	chr3	38520710	38520710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcattgctgccgagaagcGaggctccaacctcgaagtag	10	8	12	11	3	1	1	1	0	0	1	3	4	2	1	3	1	4	4	3	1	4	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:38520710G>A	ENST00000352511.3	+	6	1230	c.758G>A	c.(757-759)cGa>cAa	p.R253Q		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	253	Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCCGAGAAGCGAGGCTCCAAC	0.562													46	156					0	0	0	0	A	38520710	G	A	38520710	3	1	153	1	0	0	0	0	1	0	0	0	224	1058	37	1	780	1	ACVR2B	3	38520710	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	171552	38520710	159501720	24	27916											
EXOSC7	23016	broad.mit.edu	37	chr3	45049058	45049058	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacccagagagcatcttcgaGatgatggaggtgaggcctta	11	8	14	8	1	1	4	0	2	1	2	2	8	1	5	2	3	1	1	2	3	1	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:45049058G>A	ENST00000265564.7	+	7	810	c.762G>A	c.(760-762)gaG>gaA	p.E254E	EXOSC7_ENST00000461361.1_3'UTR|CLEC3B_ENST00000490386.1_Intron	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	254					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GCATCTTCGAGATGATGGAGG	0.612													8	25					0	0	0	0	A	45049058	G	A	45049058	2	1	153	1	0	0	0	0	0	0	0	1	5357	933	33	2		2	EXOSC7	3	45049058	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	6528348	45049058	152973372	25	27917											
PPP2R3A	5523	broad.mit.edu	37	chr3	135745824	135745824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccacggttctactttcctGaaggactcccagatacctgt	8	13	7	13	1	1	2	0	1	1	1	4	3	4	3	4	2	2	1	4	2	3	5			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:135745824G>A	ENST00000264977.3	+	3	2763	c.2146G>A	c.(2146-2148)Gaa>Aaa	p.E716K	PPP2R3A_ENST00000490467.1_5'UTR|PPP2R3A_ENST00000492624.2_5'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E95K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	716					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTACTTTCCTGAAGGACTCCC	0.428													20	76					0	0	0	0	A	135745824	G	A	135745824	3	1	153	1	0	0	0	0	1	0	0	0	12464	1291	45	2	2288	2	PPP2R3A	3	135745824	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	90696766	135745824	62276606	26	27918											
SAMD7	344658	broad.mit.edu	37	chr3	169644929	169644929	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcaacctgtgatgaaaaGaatggggtttgccctccagt	10	12	11	8	0	0	3	0	2	0	1	1	3	1	3	3	2	3	2	3	2	4	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:169644929G>A	ENST00000428432.2	+	6	1268	c.879G>A	c.(877-879)aaG>aaA	p.K293K	SAMD7_ENST00000335556.3_Silent_p.K293K	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	293										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GTGATGAAAAGAATGGGGTTT	0.547													13	59					0	0	0	0	A	169644929	G	A	169644929	2	1	153	1	0	0	0	0	0	0	0	1	13909	933	33	2		2	SAMD7	3	169644929	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	33899105	169644929	28377501	27	27919											
LETM1	3954	broad.mit.edu	37	chr4	1823941	1823941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaccggggcagtgtccttCaaggtctctgactgcaggac	8	8	13	12	1	2	1	1	1	1	0	4	2	3	2	2	4	2	3	2	4	1	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr4:1823941C>G	ENST00000302787.2	-	10	1871	c.1575G>C	c.(1573-1575)ttG>ttC	p.L525F		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	525					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	p.L525L(1)		breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CAGTGTCCTTCAAGGTCTCTG	0.602													16	43					0	0	0	0	G	1823941	C	G	1823941	3	3	153	1	0	0	0	0	1	0	0	0	8787	825	29	2	664	2	LETM1	4	1823941	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08		1823941	189330335	28	27920											
ADD1	118	broad.mit.edu	37	chr4	2900000	2900000	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgactaccatggcattctGgttgatgaagaggaaaaagt	14	10	11	6	0	1	4	0	3	1	1	1	5	1	5	1	3	1	2	1	3	4	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr4:2900000G>A	ENST00000355842.3	+	8	1694	c.831G>A	c.(829-831)ctG>ctA	p.L277L	ADD1_ENST00000398125.1_Silent_p.L277L|ADD1_ENST00000513328.2_Silent_p.L277L|ADD1_ENST00000503455.2_Silent_p.L277L|ADD1_ENST00000446856.1_Silent_p.L277L|ADD1_ENST00000398129.1_Silent_p.L277L|ADD1_ENST00000264758.7_Silent_p.L277L|ADD1_ENST00000398123.2_Silent_p.L277L			P35611	ADDA_HUMAN	adducin 1 (alpha)	277					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATGGCATTCTGGTTGATGAAG	0.438													19	68					0	0	0	0	A	2900000	G	A	2900000	2	1	153	1	0	0	0	0	0	0	0	1	304	1335	47	4		4	ADD1	4	2900000	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	1076059	2900000	188254276	29	27921											
SLAIN2	57606	broad.mit.edu	37	chr4	48381835	48381835	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctaaatgatgtaactgatGtacagattctagcccggatg	13	11	10	7	1	1	3	0	2	1	1	1	4	1	4	1	1	4	3	1	1	5	5			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr4:48381835G>C	ENST00000264313.6	+	4	1250	c.832G>C	c.(832-834)Gta>Cta	p.V278L	SLAIN2_ENST00000512093.1_Missense_Mutation_p.V85L	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	278						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TGTAACTGATGTACAGATTCT	0.328													38	113					0	0	0	0	C	48381835	G	C	48381835	3	2	153	1	0	0	0	0	1	0	0	0	14454	1377	48	4	846	4	SLAIN2	4	48381835	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	45481835	48381835	142772441	30	27922											
PARP8	79668	broad.mit.edu	37	chr5	50090843	50090843	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagtcacacaggaccttTggccgctccttgtccagcga	10	8	9	14	2	1	0	1	0	0	0	3	2	3	1	4	2	1	1	4	2	1	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr5:50090843T>G	ENST00000281631.5	+	12	1178	c.1020T>G	c.(1018-1020)ttT>ttG	p.F340L	PARP8_ENST00000505697.2_Missense_Mutation_p.F340L|PARP8_ENST00000505554.1_Missense_Mutation_p.F319L|PARP8_ENST00000503750.2_Missense_Mutation_p.F340L|PARP8_ENST00000514342.2_Missense_Mutation_p.F93L|PARP8_ENST00000514067.2_Missense_Mutation_p.F340L|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	340						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACAGGACCTTTGGCCGCTCCT	0.522													3	103					0	0	0	0	G	50090843	T	G	50090843	3	3	153	1	0	0	0	0	1	0	0	0	11536	1809	63	5	1066	5	PARP8	5	50090843	Missense_Mutation	SNP	T	TCGA-CQ-7063-01A-11D-2394-08		50090843	130824417	31	27923											
AGGF1	55109	broad.mit.edu	37	chr5	76342415	76342415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagtgaaccagaggaaggtGaaattacagactctcagact	16	8	10	7	0	1	5	1	2	1	3	2	6	1	6	1	2	2	0	1	2	5	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr5:76342415G>C	ENST00000312916.7	+	6	1496	c.1114G>C	c.(1114-1116)Gaa>Caa	p.E372Q		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	372					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AGAGGAAGGTGAAATTACAGA	0.373													18	132					0	0	0	0	C	76342415	G	C	76342415	3	2	153	1	0	0	0	0	1	0	0	0	382	1291	45	2	1136	2	AGGF1	5	76342415	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	26251572	76342415	104572845	32	27924											
IL5	3567	broad.mit.edu	37	chr5	131879115	131879115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggaatttctgtggggatgGcatacacgtaggcagctcca	9	10	14	8	1	1	0	0	0	1	0	2	2	2	2	1	5	2	4	1	5	3	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr5:131879115G>A	ENST00000231454.1	-	1	99	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5 (colony-stimulating factor, eosinophil)	19					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	TGTGGGGATGGCATACACGTA	0.458													4	114					0	0	0	0	A	131879115	G	A	131879115	3	1	153	1	0	0	0	0	1	0	0	0	7752	1203	42	4	364	4	IL5	5	131879115	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	55536700	131879115	49036145	33	27925											
KDM3B	51780	broad.mit.edu	37	chr5	137735605	137735605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagatgtgtgatgtgtgtGaaacaactctcttcaacatc	11	12	11	7	0	2	3	1	2	1	1	4	4	2	3	0	1	3	0	0	1	3	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr5:137735605G>A	ENST00000314358.5	+	11	3303	c.3103G>A	c.(3103-3105)Gaa>Aaa	p.E1035K	KDM3B_ENST00000394866.1_Missense_Mutation_p.E691K|KDM3B_ENST00000542866.1_Missense_Mutation_p.E67K	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1035					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGATGTGTGTGAAACAACTCT	0.507													17	53					0	0	0	0	A	137735605	G	A	137735605	3	1	153	1	0	0	0	0	1	0	0	0	8180	1291	45	2	3145	2	KDM3B	5	137735605	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	5856490	137735605	43179655	34	27926											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811313	140811313	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatgcaggatattctgcGcgagccaaagtcctgatcac	12	9	10	10	2	2	1	1	1	1	0	3	4	3	2	2	1	3	1	2	1	3	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr5:140811313G>A	ENST00000252085.3	+	1	1129	c.987G>A	c.(985-987)gcG>gcA	p.A329A	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATATTCTGCGCGAGCCAAAG	0.512													33	94					0	0	0	0	A	140811313	G	A	140811313	2	1	153	1	0	0	0	0	0	0	0	1	11624	1074	38	1		1	PCDHGA12	5	140811313	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	3075708	140811313	40103947	35	27927											
F13A1	2162	broad.mit.edu	37	chr6	6175070	6175070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagctccgtacatcagggcaGtttctagggccaatctctct	8	12	9	12	1	4	0	1	0	3	0	6	0	5	0	2	2	2	4	2	2	4	4			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:6175070G>A	ENST00000264870.3	-	12	1755	c.1490C>T	c.(1489-1491)aCt>aTt	p.T497I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	497					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)	CATCAGGGCAGTTTCTAGGGC	0.453													12	46					0	0	0	0	A	6175070	G	A	6175070	3	1	153	1	0	0	0	0	1	0	0	0	5378	1029	36	4	724	4	F13A1	6	6175070	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08		6175070	164939997	36	27928											
TBC1D7	51256	broad.mit.edu	37	chr6	13327061	13327061	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttctaatgatttcttttCttcaactccacgaaacccca	12	15	2	12	1	4	1	1	1	3	0	5	2	5	1	3	0	2	0	3	0	4	6			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:13327061C>G	ENST00000607658.1	-	2	220	c.70G>C	c.(70-72)Gaa>Caa	p.E24Q	TBC1D7_ENST00000379300.3_Missense_Mutation_p.E24Q|TBC1D7_ENST00000379307.2_Missense_Mutation_p.E24Q|TBC1D7_ENST00000356436.4_Missense_Mutation_p.E24Q|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.E24Q			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	24					positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GATTTCTTTTCTTCAACTCCA	0.368													15	55					0	0	0	0	G	13327061	C	G	13327061	3	3	153	1	0	0	0	0	1	0	0	0	15718	922	32	2	839	2	TBC1D7	6	13327061	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	7151991	13327061	157788006	37	27929											
BTNL2	56244	broad.mit.edu	37	chr6	32372949	32372949	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggctctgagcggtacCacctcacctccacgtgcatt	6	10	10	15	2	2	1	1	1	1	0	3	1	3	1	4	2	4	4	4	2	1	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:32372949C>T	ENST00000454136.3	-	2	198	c.194G>A	c.(193-195)tGg>tAg	p.W65*	BTNL2_ENST00000374993.1_Nonsense_Mutation_p.W65*|BTNL2_ENST00000374995.3_Nonsense_Mutation_p.W65*|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000429232.2_Nonsense_Mutation_p.W65*|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000544175.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	65	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TGAGCGGTACCACCTCACCTC	0.577													30	96					0	0	0	0	T	32372949	C	T	32372949	4	4	153	1	0	0	0	0	0	1	0	0	1574	595	21	4	1193	4	BTNL2	6	32372949	Nonsense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	19045888	32372949	138742118	38	27930											
DNAH8	1769	broad.mit.edu	37	chr6	38810443	38810443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttctttctgaaagatgtCgtaaacttccaaaaggactt	12	15	6	8	1	3	2	0	1	3	1	5	3	4	3	1	1	1	1	1	1	5	5	rs78877915	by1000genomes	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:38810443C>T	ENST00000359357.3	+	33	4212	c.3958C>T	c.(3958-3960)Cgt>Tgt	p.R1320C	DNAH8_ENST00000441566.1_Missense_Mutation_p.R1320C|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1537C					dynein, axonemal, heavy chain 8									p.R1320C(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAAAGATGTCGTAAACTTCC	0.318													13	48					0	0	0	0	T	38810443	C	T	38810443	3	4	153	1	0	0	0	0	1	0	0	0	4643	884	31	1	4080	1	DNAH8	6	38810443	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	6437494	38810443	132304624	39	27931											
GPR111	222611	broad.mit.edu	37	chr6	47650381	47650381	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtaagtccagatgcttctGaccaagtgcaaagtgagaga	14	8	12	7	0	1	4	0	2	1	2	2	5	2	4	2	1	2	3	2	1	3	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:47650381G>C	ENST00000507065.1	+	6	2160	c.1882G>C	c.(1882-1884)Gac>Cac	p.D628H	GPR111_ENST00000296862.1_Missense_Mutation_p.D696H|GPR111_ENST00000398742.2_Intron			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	696					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGATGCTTCTGACCAAGTGCA	0.433													10	36					0	0	0	0	C	47650381	G	C	47650381	3	2	153	1	0	0	0	0	1	0	0	0	6677	1305	45	2		2	GPR111	6	47650381	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	8839938	47650381	123464686	40	27932											
BAI3	577	broad.mit.edu	37	chr6	69728363	69728363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggatgatggactttcaGaattcatacttaatgactgg	12	13	11	5	0	2	3	2	2	0	1	2	5	2	5	0	4	1	0	0	4	3	4			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:69728363G>T	ENST00000370598.1	+	13	2900	c.2079G>T	c.(2077-2079)caG>caT	p.Q693H		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	693					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGACTTTCAGAATTCATACT	0.323													11	81					1.08611e-07	1.13649e-07	1	0	T	69728363	G	T	69728363	3	4	153	1	0	0	0	0	1	0	0	0	1304	933	33	2	2121	2	BAI3	6	69728363	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	22077982	69728363	101386704	41	27933											
FBXL4	26235	broad.mit.edu	37	chr6	99374800	99374800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttgtagctgtcctggctCggcgccgaaggcatatataa	8	11	11	11	3	1	0	0	0	1	0	3	1	2	0	2	3	1	4	2	3	5	5	rs147696366		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:99374800C>T	ENST00000369244.2	-	4	493	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	FBXL4_ENST00000229971.1_Missense_Mutation_p.R22Q			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	22					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TGTCCTGGCTCGGCGCCGAAG	0.453													29	119					0	0	0	0	T	99374800	C	T	99374800	3	4	153	1	0	0	0	0	1	0	0	0	5766	884	31	1	1828	1	FBXL4	6	99374800	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	29646437	99374800	71740267	42	27934											
SLC35F1	222553	broad.mit.edu	37	chr6	118635300	118635300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgagtgtataagcagttccGcaatccttcaggacctgttg	9	11	10	11	2	1	0	1	0	0	0	3	2	3	1	4	1	1	5	4	1	3	5	rs138680595	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:118635300G>A	ENST00000360388.4	+	8	1313	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	371					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		AAGCAGTTCCGCAATCCTTCA	0.557													23	147					0	0	0	0	A	118635300	G	A	118635300	3	1	153	1	0	0	0	0	1	0	0	0	14676	1087	38	1	1142	1	SLC35F1	6	118635300	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	19260500	118635300	52479767	43	27935											
SYNJ2	8871	broad.mit.edu	37	chr6	158449979	158449979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctatttctcatggccaaacGatgggtctcgctttgacctg	7	14	9	11	2	3	1	1	1	3	0	5	2	3	1	2	2	1	1	2	2	2	3	rs147584404		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:158449979G>A	ENST00000355585.4	+	3	481	c.406G>A	c.(406-408)Gat>Aat	p.D136N	SYNJ2_ENST00000449859.2_Missense_Mutation_p.D85N|SYNJ2_ENST00000367121.3_Missense_Mutation_p.D136N|SYNJ2_ENST00000367122.2_Missense_Mutation_p.D136N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	136	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATGGCCAAACGATGGGTCTCG	0.552													16	54					0	0	0	0	A	158449979	G	A	158449979	3	1	153	1	0	0	0	0	1	0	0	0	15544	1058	37	1	416	1	SYNJ2	6	158449979	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	39814679	158449979	12665088	44	27936											
ACAT2	39	broad.mit.edu	37	chr6	160189587	160189587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggagtaaagataggtgaGatgccactgactgacagtat	15	8	12	6	0	0	4	0	3	0	2	0	6	0	5	1	2	1	2	1	2	4	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:160189587G>T	ENST00000367048.4	+	4	2177	c.417G>T	c.(415-417)gaG>gaT	p.E139D	ACAT2_ENST00000541436.1_Missense_Mutation_p.E168D	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	139						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGATAGGTGAGATGCCACTGA	0.413													26	93					9.86323e-18	1.05938e-17	1	0	T	160189587	G	T	160189587	3	4	153	1	0	0	0	0	1	0	0	0	122	933	33	2	431	2	ACAT2	6	160189587	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	1739608	160189587	10925480	45	27937											
DMTF1	9988	broad.mit.edu	37	chr7	86824078	86824078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttatcgttccttcaccaCatggctttatccaggcatct	8	15	5	13	1	2	0	1	0	1	0	5	0	4	0	3	2	1	3	3	2	3	6			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr7:86824078C>A	ENST00000414194.2	+	17	3101	c.1309C>A	c.(1309-1311)Cat>Aat	p.H437N	DMTF1_ENST00000394703.5_Missense_Mutation_p.H703N|DMTF1_ENST00000331242.7_Missense_Mutation_p.H703N|DMTF1_ENST00000432937.2_Missense_Mutation_p.H615N|DMTF1_ENST00000413276.2_Missense_Mutation_p.H633N			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	703	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TCCTTCACCACATGGCTTTAT	0.333													10	57					2.27111e-07	2.34028e-07	1	0	A	86824078	C	A	86824078	3	1	153	1	0	0	0	0	1	0	0	0	4629	478	17	4	2165	4	DMTF1	7	86824078	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08		86824078	72314585	46	27938											
PTPRZ1	5803	broad.mit.edu	37	chr7	121623864	121623864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaaagatacagttagcatCtctgaaagccaggtaatctt	14	13	7	7	0	2	2	0	1	2	1	3	2	2	2	1	1	3	3	1	1	6	6			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr7:121623864C>G	ENST00000393386.2	+	7	1176	c.765C>G	c.(763-765)atC>atG	p.I255M	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I255M	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	255	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAGTTAGCATCTCTGAAAGCC	0.318													21	79					0	0	0	0	G	121623864	C	G	121623864	3	3	153	1	0	0	0	0	1	0	0	0	12896	903	32	2	791	2	PTPRZ1	7	121623864	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	34799786	121623864	37514799	47	27939											
DENND2A	27147	broad.mit.edu	37	chr7	140301871	140301871	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcactgctcctttattcctCtccttctctgtgctctctgt	2	20	4	15	0	4	0	1	0	3	0	9	0	6	0	3	0	2	2	3	0	1	5			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr7:140301871C>G	ENST00000275884.6	-	2	744	c.327G>C	c.(325-327)gaG>gaC	p.E109D	DENND2A_ENST00000492720.1_Missense_Mutation_p.E109D|DENND2A_ENST00000496613.1_Missense_Mutation_p.E109D|DENND2A_ENST00000537639.1_Missense_Mutation_p.E109D			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	109										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CTTTATTCCTCTCCTTCTCTG	0.587													58	177					0	0	0	0	G	140301871	C	G	140301871	3	3	153	1	0	0	0	0	1	0	0	0	4466	912	32	2	2774	2	DENND2A	7	140301871	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	18678007	140301871	18836792	48	27940											
IKBKB	3551	broad.mit.edu	37	chr8	42129621	42129621	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttagcacgacatcagtatGagctggtcaccttccctgac	10	10	9	12	1	2	2	2	2	0	0	3	3	3	2	2	1	2	4	2	1	2	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:42129621G>A	ENST00000520810.1	+	2	189	c.3G>A	c.(1-3)atG>atA	p.M1I	IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000522147.1_Start_Codon_SNP_p.M1I|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000519735.1_Start_Codon_SNP_p.M1I|IKBKB_ENST00000518983.1_Start_Codon_SNP_p.M1I	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	1					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ACATCAGTATGAGCTGGTCAC	0.473											OREG0018746	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	64					0	0	0	0	A	42129621	G	A	42129621	1	1	153	1	0	0	0	0	0	0	0	0	7664	1290	45	2		2	IKBKB	8	42129621	Translation_Start_Site	SNP	G	TCGA-CQ-7063-01A-11D-2394-08		42129621	104234401	49	27941											
C8orf46	254778	broad.mit.edu	37	chr8	67408707	67408707	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaagagccaaaagctctCagcacctcttgaccaagaat	16	6	8	11	0	2	4	1	1	2	3	3	5	2	4	3	0	3	2	3	0	6	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:67408707C>T	ENST00000305454.3	+	2	547	c.106C>T	c.(106-108)Cag>Tag	p.Q36*	C8orf46_ENST00000521495.1_Nonsense_Mutation_p.Q36*|C8orf46_ENST00000522977.1_Nonsense_Mutation_p.Q36*|C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000480005.1_Nonsense_Mutation_p.Q36*	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	36										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CAAAAGCTCTCAGCACCTCTT	0.418													13	75					0	0	0	0	T	67408707	C	T	67408707	4	4	153	1	0	0	0	0	0	1	0	0	2455	827	29	2	112	2	C8orf46	8	67408707	Nonsense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	25279086	67408707	78955315	50	27942											
CYP11B2	1585	broad.mit.edu	37	chr8	143994787	143994787	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgctggctgcggcggcCaggctctcctggcgcaggat	4	8	16	13	3	1	1	0	1	1	0	2	2	1	2	2	6	2	4	2	6	0	0			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:143994787C>G	ENST00000323110.2	-	6	1037	c.1035G>C	c.(1033-1035)ctG>ctC	p.L345L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	345					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CTGCGGCGGCCAGGCTCTCCT	0.637									Familial Hyperaldosteronism type I				15	103					0	0	0	0	G	143994787	C	G	143994787	2	3	153	1	0	0	0	0	0	0	0	1	4178	581	21	4		4	CYP11B2	8	143994787	Silent	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	76586080	143994787	2369235	51	27943											
PLEC	5339	broad.mit.edu	37	chr8	144992883	144992883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctggtagatgctcagtgtCtgcctggaaccgggcaggta	7	9	15	10	1	2	1	1	0	1	1	2	2	2	2	3	4	3	4	3	4	3	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:144992883C>G	ENST00000322810.4	-	32	11686	c.11517G>C	c.(11515-11517)caG>caC	p.Q3839H	PLEC_ENST00000354958.2_Missense_Mutation_p.Q3680H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q3702H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q3729H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q3670H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q3725H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q3706H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q3688H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q3702H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3839	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCTCAGTGTCTGCCTGGAAC	0.662													3	43					0	0	0	0	G	144992883	C	G	144992883	3	3	153	1	0	0	0	0	1	0	0	0	12124	912	32	2	2541	2	PLEC	8	144992883	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	998096	144992883	1371139	52	27944											
PLEC	5339	broad.mit.edu	37	chr8	144994004	144994004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgccgtccttgagctgctCaaactgggctctgctgagga	6	11	12	12	1	2	2	1	2	1	0	3	3	3	3	2	2	5	4	2	2	1	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:144994004C>G	ENST00000322810.4	-	32	10565	c.10396G>C	c.(10396-10398)Gag>Cag	p.E3466Q	PLEC_ENST00000354958.2_Missense_Mutation_p.E3307Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3329Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3356Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E3297Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3352Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3333Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3315Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3329Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3466	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGAGCTGCTCAAACTGGGCT	0.677													14	56					0	0	0	0	G	144994004	C	G	144994004	3	3	153	1	0	0	0	0	1	0	0	0	12124	835	29	2	3662	2	PLEC	8	144994004	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	1121	144994004	1370018	53	27945											
DOCK8	81704	broad.mit.edu	37	chr9	379800	379800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtttgccttcgagtccGtggtggccatcgccaacagt	6	10	11	14	3	0	0	0	0	0	0	3	1	1	0	5	2	2	1	5	2	1	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:379800G>A	ENST00000432829.2	+	21	2582	c.2266G>A	c.(2266-2268)Gtg>Atg	p.V756M	DOCK8_ENST00000469391.1_Missense_Mutation_p.V756M|DOCK8_ENST00000382331.1_Missense_Mutation_p.V126M|DOCK8_ENST00000382329.1_Missense_Mutation_p.V291M|DOCK8_ENST00000453981.1_Missense_Mutation_p.V824M	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	824					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTTCGAGTCCGTGGTGGCCAT	0.557													25	115					0	0	0	0	A	379800	G	A	379800	3	1	153	1	0	0	0	0	1	0	0	0	4729	1145	40	1	2552	1	DOCK8	9	379800	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08		379800	140833631	54	27946											
PTPRD	5789	broad.mit.edu	37	chr9	8460435	8460435	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaagaagaatagcaatgAcaatgcagatgataaagacc	21	7	8	5	0	0	6	0	2	0	4	0	6	0	6	1	0	2	2	1	0	10	4			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:8460435A>G	ENST00000381196.4	-	30	4394	c.3851T>C	c.(3850-3852)gTc>gCc	p.V1284A	PTPRD_ENST00000486161.1_Missense_Mutation_p.V873A|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1262A|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1284A|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1284A|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1271A|PTPRD_ENST00000397617.3_Missense_Mutation_p.V863A|PTPRD_ENST00000537002.1_Missense_Mutation_p.V870A|PTPRD_ENST00000355233.5_Missense_Mutation_p.V873A|PTPRD_ENST00000397611.3_Missense_Mutation_p.V870A|PTPRD_ENST00000397606.3_Missense_Mutation_p.V863A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1284					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATAGCAATGACAATGCAGAT	0.418										TSP Lung(15;0.13)			11	167					0	0	0	0	G	8460435	A	G	8460435	3	3	153	1	0	0	0	0	1	0	0	0	12881	275	10	5	2008	5	PTPRD	9	8460435	Missense_Mutation	SNP	A	TCGA-CQ-7063-01A-11D-2394-08	8080635	8460435	132752996	55	27947											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	8	6	10	17	3	2	1	2	1	0	0	4	1	3	1	3	1	4	4	3	1	0	0	rs121913387		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			3	21					0	0	0	0	A	21971186	G	A	21971186	4	1	153	1	0	0	0	0	0	1	0	0	3190	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	13510751	21971186	119242245	56	27948											
ANKRD20A4	728747	broad.mit.edu	37	chr9	69423835	69423835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaaacacaggaaatgaaaGagatgtatcaaaatgcagaa	22	5	9	5	0	1	3	1	1	0	2	1	5	1	4	0	1	3	3	0	1	7	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:69423835G>A	ENST00000357336.3	+	15	2412	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	711										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GGAAATGAAAGAGATGTATCA	0.398													76	56					0	0	0	0	A	69423835	G	A	69423835	3	1	153	1	0	0	0	0	1	0	0	0	650	943	33	2	2189	2	ANKRD20A4	9	69423835	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	47452649	69423835	71789596	57	27949											
TRPM3	80036	broad.mit.edu	37	chr9	73254098	73254098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcatccaacatggcttgctCcagagatcccacctgcaaac	11	7	8	15	0	0	1	0	0	0	1	3	2	3	1	4	2	4	4	4	2	2	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:73254098C>T	ENST00000377110.2	-	11	1702	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	TRPM3_ENST00000360823.2_Missense_Mutation_p.E359K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E489K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E334K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E334K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E359K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E514K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E359K|TRPM3_ENST00000377111.2_Missense_Mutation_p.E487K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E359K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E334K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E334K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	512						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATGGCTTGCTCCAGAGATCCC	0.453													23	72					0	0	0	0	T	73254098	C	T	73254098	3	4	153	1	0	0	0	0	1	0	0	0	16682	864	30	2	3764	2	TRPM3	9	73254098	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	3830263	73254098	67959333	58	27950											
C9orf40	55071	broad.mit.edu	37	chr9	77563059	77563059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttcaatgtctgccagatCaataggaggcaaaggattcc	13	10	9	9	0	4	1	2	0	2	1	5	3	5	3	2	3	1	1	2	3	4	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:77563059C>T	ENST00000376854.5	-	2	764	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_017998.2	NP_060468.2	Q8IXQ3	CI040_HUMAN	chromosome 9 open reading frame 40	164										lung(2)|stomach(1)	3						TCTGCCAGATCAATAGGAGGC	0.423													22	66					0	0	0	0	T	77563059	C	T	77563059	3	4	153	1	0	0	0	0	1	0	0	0	2506	826	29	2	98	2	C9orf40	9	77563059	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	4308961	77563059	63650372	59	27951											
PRUNE2	158471	broad.mit.edu	37	chr9	79324833	79324833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggttcaccatcatctGtaggatttccccagggctcg	6	12	10	13	1	3	0	2	0	1	0	5	1	4	1	3	3	1	4	3	3	1	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:79324833G>T	ENST00000428286.1	-	8	2480	c.1280C>A	c.(1279-1281)aCa>aAa	p.T427K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.T786K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	786					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCATCATCTGTAGGATTTCC	0.493													7	15					8.12818e-05	8.16842e-05	1	0	T	79324833	G	T	79324833	3	4	153	1	0	0	0	0	1	0	0	0	12720	1377	48	4	6957	4	PRUNE2	9	79324833	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	1761774	79324833	61888598	60	27952											
CYLC2	1539	broad.mit.edu	37	chr9	105767823	105767823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaagatgccaagaaagttGccaagaaagatactgagaaa	20	5	10	6	1	0	5	0	1	0	5	0	7	0	5	2	0	3	1	2	0	7	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:105767823G>T	ENST00000374798.3	+	5	980	c.910G>T	c.(910-912)Gcc>Tcc	p.A304S	CYLC2_ENST00000487798.1_Missense_Mutation_p.A304S	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	304	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.A304T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				caagaaagttgccaagaaaga	0.388													3	18					0.115264	0.115264	1	0	T	105767823	G	T	105767823	3	4	153	1	0	0	0	0	1	0	0	0	4174	1319	46	4	928	4	CYLC2	9	105767823	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	26442990	105767823	35445608	61	27953											
OR1J2	26740	broad.mit.edu	37	chr9	125273990	125273991	+	Frame_Shift_Del	DEL	CT	CT	-																															tgaaagaggcccttgggaaaCtcttcagtagagcaacattt																										TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:125273990_125273991delCT	ENST00000335302.5	+	1	910_911	c.910_911delCT	c.(910-912)cfs	p.L304fs		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCTTGGGAAACTCTTCAGTAGA	0.391													26	90	---	---	---	---					-	125273991	CT	-	125273990	7	5	153	1	0	1	0	1	0	0	0	0	11031	565	20	0	912	0	OR1J2	9	125273990	Frame_Shift_Del	DEL	CT	TCGA-CQ-7063-01A-11D-2394-08	19506167	125273990	15939441	62	27954											
GPR158	57512	broad.mit.edu	37	chr10	25464907	25464907	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgattcgctgtccgcaccGgccccacaggtcttcctcca	6	8	8	19	4	1	0	0	0	1	0	5	1	4	0	7	2	0	2	7	2	0	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:25464907G>T	ENST00000376351.3	+	1	917	c.558G>T	c.(556-558)ccG>ccT	p.P186P	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	186						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTCCGCACCGGCCCCACAGG	0.672													13	30					5.50884e-06	5.61957e-06	1	0	T	25464907	G	T	25464907	2	4	153	1	0	0	0	0	0	0	0	1	6712	1103	39	3		3	GPR158	10	25464907	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08		25464907	110069840	63	27955											
ZNF438	220929	broad.mit.edu	37	chr10	31134180	31134180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttccacgccattctgatGaaggtggagctgccttttca	8	13	9	11	1	2	2	1	2	1	0	3	3	3	3	3	2	2	1	3	2	1	4			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:31134180G>A	ENST00000538351.1	-	8	2804	c.2050C>T	c.(2050-2052)Cat>Tat	p.H684Y	ZNF438_ENST00000442986.1_Missense_Mutation_p.H733Y|ZNF438_ENST00000331737.6_Missense_Mutation_p.H723Y|ZNF438_ENST00000444692.2_Missense_Mutation_p.H723Y|ZNF438_ENST00000436087.2_Missense_Mutation_p.H733Y|ZNF438_ENST00000361310.3_Missense_Mutation_p.H733Y|ZNF438_ENST00000452305.1_Missense_Mutation_p.H723Y|ZNF438_ENST00000375311.1_Missense_Mutation_p.H297Y|ZNF438_ENST00000413025.1_Missense_Mutation_p.H733Y	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CCATTCTGATGAAGGTGGAGC	0.542													27	103					0	0	0	0	A	31134180	G	A	31134180	3	1	153	1	0	0	0	0	1	0	0	0	18005	1290	45	2	293	2	ZNF438	10	31134180	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	5669273	31134180	104400567	64	27956											
MYPN	84665	broad.mit.edu	37	chr10	69921514	69921515	+	Frame_Shift_Del	DEL	AG	AG	-																															tccatggcagagccaggtaaAgatgatttcaactttaattt																										TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:69921514_69921515delAG	ENST00000373675.3	+	8	1717_1718	c.1488_1489delAG	c.(1486-1491)aaatfs	p.KD496fs	MYPN_ENST00000358913.5_Intron|MYPN_ENST00000540630.1_Intron|MYPN_ENST00000354393.2_Intron			Q86TC9	MYPN_HUMAN	myopalladin	0	Ig-like 2.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGCCAGGTAAAGATGATTTCAA	0.287													7	57	---	---	---	---					-	69921515	AG	-	69921514	7	5	153	1	0	1	0	1	0	0	0	0	10168	87	3	0		0	MYPN	10	69921514	Frame_Shift_Del	DEL	AG	TCGA-CQ-7063-01A-11D-2394-08	38787334	69921514	65613233	65	27957											
ENTPD1	953	broad.mit.edu	37	chr10	97602196	97602196	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagtgattccaaggtccCagcaccaagagacacccgtt	12	6	11	12	1	0	2	0	1	0	1	2	4	2	3	4	2	1	2	4	2	3	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:97602196C>A	ENST00000371207.3	+	4	457	c.394C>A	c.(394-396)Cag>Aag	p.Q132K	ENTPD1_ENST00000543964.1_Missense_Mutation_p.Q12K|ENTPD1_ENST00000539125.1_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000453258.2_Missense_Mutation_p.Q127K|ENTPD1_ENST00000371203.5_Intron|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371205.4_Missense_Mutation_p.Q120K|RP11-429G19.3_ENST00000433113.1_RNA	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	120					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TCCAAGGTCCCAGCACCAAGA	0.488													16	80					1.15088e-07	1.19198e-07	1	0	A	97602196	C	A	97602196	3	1	153	1	0	0	0	0	1	0	0	0	5176	595	21	4	469	4	ENTPD1	10	97602196	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	27680682	97602196	37932551	66	27958											
WNT8B	7479	broad.mit.edu	37	chr10	102242120	102242120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggctgcagctgcccgagttCcgcgaggtgggcgcgcacct	4	7	16	14	5	0	0	0	0	0	0	1	2	1	0	3	3	3	5	3	3	0	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:102242120C>T	ENST00000343737.5	+	6	731	c.603C>T	c.(601-603)ttC>ttT	p.F201F		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	201					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TGCCCGAGTTCCGCGAGGTGG	0.682											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	26					0	0	0	0	T	102242120	C	T	102242120	2	4	153	1	0	0	0	0	0	0	0	1	17493	854	30	2		2	WNT8B	10	102242120	Silent	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	4639924	102242120	33292627	67	27959											
DMBT1	1755	broad.mit.edu	37	chr10	124353105	124353105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcccagtcccggccgacaCccagtccaggtaggtcccca	7	7	9	18	2	0	0	0	0	0	0	4	1	4	0	7	3	0	1	7	3	1	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:124353105C>T	ENST00000338354.3	+	21	2627	c.2521C>T	c.(2521-2523)Ccc>Tcc	p.P841S	DMBT1_ENST00000344338.3_Missense_Mutation_p.P831S|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.P831S|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.P841S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	841					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCGGCCGACACCCAGTCCAGG	0.517													12	408					0	0	0	0	T	124353105	C	T	124353105	3	4	153	1	0	0	0	0	1	0	0	0	4614	507	18	4	2603	4	DMBT1	10	124353105	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	22110985	124353105	11181642	68	27960											
PTPRE	5791	broad.mit.edu	37	chr10	129870426	129870426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcaaccgagtgatcctttCcatgaaaaggggtcaagaat	13	10	9	9	1	2	3	2	2	0	1	4	4	4	3	3	2	1	0	3	2	5	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:129870426C>T	ENST00000254667.3	+	16	1691	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	PTPRE_ENST00000419012.2_Missense_Mutation_p.S471F|PTPRE_ENST00000306042.5_Missense_Mutation_p.S413F	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	471	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GTGATCCTTTCCATGAAAAGG	0.418													7	27					0	0	0	0	T	129870426	C	T	129870426	3	4	153	1	0	0	0	0	1	0	0	0	12882	855	30	2	1505	2	PTPRE	10	129870426	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	5517321	129870426	5664321	69	27961											
HRAS	3265	broad.mit.edu	37	chr11	534289	534289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactcttgcccacaccgcCggcgcccaccaccaccagct	7	4	7	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	2	7	1	0	1	rs104894229		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:534289C>T	ENST00000417302.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			45	36					0	0	0	0	T	534289	C	T	534289	3	4	153	1	0	0	0	0	1	0	0	0	7398	652	23	1	618	1	HRAS	11	534289	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08		534289	134472227	70	27962											
MUC6	4588	broad.mit.edu	37	chr11	1028778	1028778	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgcctgaagaccgtgaTgttgcctgcaggacgcagtg	7	9	14	11	3	1	3	0	2	1	1	1	4	1	4	3	1	3	3	3	1	1	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:1028778T>A	ENST00000421673.2	-	13	1509	c.1459A>T	c.(1459-1461)Atc>Ttc	p.I487F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	487	VWFD 2.				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)		AAGACCGTGATGTTGCCTGCA	0.672													9	54					0	0	0	0	A	1028778	T	A	1028778	3	1	153	1	0	0	0	0	1	0	0	0	10050	1464	51	5	5944	5	MUC6	11	1028778	Missense_Mutation	SNP	T	TCGA-CQ-7063-01A-11D-2394-08	494489	1028778	133977738	71	27963											
OR52E4	390081	broad.mit.edu	37	chr11	5906452	5906452	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgtgaaaatatttgtacaGaaagaataattctgtattaa	18	15	6	2	0	1	3	0	1	1	2	1	3	1	3	0	0	1	2	0	0	9	8			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:5906452G>C	ENST00000316987.2	+	1	952	c.930G>C	c.(928-930)caG>caC	p.Q310H		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q310H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTTGTACAGAAAGAATAAT	0.368													24	36					0	0	0	0	C	5906452	G	C	5906452	3	2	153	1	0	0	0	0	1	0	0	0	11187	933	33	2	932	2	OR52E4	11	5906452	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	4877674	5906452	129100064	72	27964											
IPO7	10527	broad.mit.edu	37	chr11	9466643	9466643	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaattttatttgttttctaGaatccaaaatgattgagaag	16	16	6	3	0	1	3	0	2	1	2	2	4	2	3	1	0	0	1	1	0	8	7			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:9466643G>C	ENST00000379719.3	+	25	3161		c.e25-1			NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7						interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTGTTTTCTAGAATCCAAAAT	0.373													19	50					0	0	0	0	C	9466643	G	C	9466643	5	2	153	1	0	0	0	0	0	0	1	0	7850	956	33	2	3117	2	IPO7	11	9466643	Splice_Site	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	3560191	9466643	125539873	73	27965											
DCDC1	341019	broad.mit.edu	37	chr11	30937110	30937110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	actaccatcagatttcttctCcaccaaaaccacctccatgc	12	10	2	17	0	3	1	1	0	2	1	5	1	4	1	6	0	3	0	6	0	3	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:30937110C>G	ENST00000597505.1	-	25	3600	c.3601G>C	c.(3601-3603)Gag>Cag	p.E1201Q	DCDC1_ENST00000339794.5_Missense_Mutation_p.E280Q|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GATTTCTTCTCCACCAAAACC	0.463													18	88					0	0	0	0	G	30937110	C	G	30937110	3	3	153	1	0	0	0	0	1	0	0	0	4316	870	30	2		2	DCDC1	11	30937110	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	21470467	30937110	104069406	74	27966											
AHNAK	79026	broad.mit.edu	37	chr11	62289614	62289614	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatgtccactttgggtcctGagacatcaatgtcagctttg	9	13	9	10	0	2	1	2	1	0	1	4	2	4	1	2	1	1	1	2	1	2	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:62289614G>C	ENST00000378024.4	-	5	12549	c.12275C>G	c.(12274-12276)tCa>tGa	p.S4092*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4092					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGGGTCCTGAGACATCAAT	0.458													52	195					0	0	0	0	C	62289614	G	C	62289614	4	2	153	1	0	0	0	0	0	1	0	0	414	1294	45	2	5517	2	AHNAK	11	62289614	Nonsense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	31352504	62289614	72716902	75	27967											
INPPL1	3636	broad.mit.edu	37	chr11	71949125	71949125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgggccagcgggctgggcGaggcaggcatgagtgcctgg	5	4	22	10	3	0	1	0	1	0	0	0	2	0	1	2	7	2	3	2	7	0	0			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:71949125G>A	ENST00000298229.2	+	27	3796	c.3592G>A	c.(3592-3594)Gag>Aag	p.E1198K	INPPL1_ENST00000538751.1_Missense_Mutation_p.E956K|INPPL1_ENST00000541756.1_Missense_Mutation_p.E956K	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1198	SAM.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CGGGCTGGGCGAGGCAGGCAT	0.662											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	12					0	0	0	0	A	71949125	G	A	71949125	3	1	153	1	0	0	0	0	1	0	0	0	7814	1059	37	1	3698	1	INPPL1	11	71949125	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	9659511	71949125	63057391	76	27968											
TIRAP	114609	broad.mit.edu	37	chr11	126160817	126160817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catcgacctccctcccagctCctggctctcggcctaagaag	7	8	8	18	2	1	1	0	0	1	1	6	2	4	1	5	2	1	2	5	2	2	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:126160817C>T	ENST00000392679.1	+	3	311	c.28C>T	c.(28-30)Cct>Tct	p.P10S	TIRAP_ENST00000392678.3_Missense_Mutation_p.P10S|TIRAP_ENST00000392680.2_Missense_Mutation_p.P10S			P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	10					3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		CCTCCCAGCTCCTGGCTCTCG	0.597													8	11					0	0	0	0	T	126160817	C	T	126160817	3	4	153	1	0	0	0	0	1	0	0	0	16021	855	30	2	30	2	TIRAP	11	126160817	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	54211692	126160817	8845699	77	27969											
NCAPD3	23310	broad.mit.edu	37	chr11	134074047	134074047	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgggctgcaaaagtacgaTactctgatttatctaccacc	12	11	7	11	1	2	1	0	1	2	0	2	2	2	1	2	1	4	3	2	1	6	5			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:134074047T>C	ENST00000534548.2	-	10	1173	c.1109A>G	c.(1108-1110)tAt>tGt	p.Y370C		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	370					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAAAGTACGATACTCTGATTT	0.428													20	28					0	0	0	0	C	134074047	T	C	134074047	3	2	153	1	0	0	0	0	1	0	0	0	10276	1406	49	5	3491	5	NCAPD3	11	134074047	Missense_Mutation	SNP	T	TCGA-CQ-7063-01A-11D-2394-08	7913230	134074047	932469	78	27970											
PZP	5858	broad.mit.edu	37	chr12	9304252	9304252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacttctgtccggctcacaGagctagatctttcaagctgg	8	12	9	12	1	5	2	3	0	2	2	6	2	6	2	1	2	2	3	1	2	2	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:9304252G>C	ENST00000261336.2	-	33	4257	c.4229C>G	c.(4228-4230)tCt>tGt	p.S1410C	PZP_ENST00000381997.2_Missense_Mutation_p.S1196C	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCGGCTCACAGAGCTAGATCT	0.438													5	34					0	0	0	0	C	9304252	G	C	9304252	3	2	153	1	0	0	0	0	1	0	0	0	12951	942	33	2	235	2	PZP	12	9304252	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08		9304252	124547643	79	27971											
KIF21A	55605	broad.mit.edu	37	chr12	39726491	39726491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggagctgccacttcatgcGagctgtcttggaaataaaca	13	9	10	9	1	2	0	1	0	1	0	2	3	2	2	1	2	5	2	1	2	4	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:39726491G>A	ENST00000395670.3	-	20	3177	c.2758C>T	c.(2758-2760)Cgc>Tgc	p.R920C	KIF21A_ENST00000544797.2_Missense_Mutation_p.R907C|KIF21A_ENST00000361418.5_Missense_Mutation_p.R920C|KIF21A_ENST00000541463.2_Missense_Mutation_p.R884C|KIF21A_ENST00000361961.3_Missense_Mutation_p.R907C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	920					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CACTTCATGCGAGCTGTCTTG	0.418													15	66					0	0	0	0	A	39726491	G	A	39726491	3	1	153	1	0	0	0	0	1	0	0	0	8339	1058	37	1	2342	1	KIF21A	12	39726491	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	30422239	39726491	94125404	80	27972											
SENP1	29843	broad.mit.edu	37	chr12	48458895	48458896	+	Frame_Shift_Ins	INS	-	-	T																															ctatcagttaatttatgaccINSttttttttgtgtttcttgga																										TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:48458895_48458896insT	ENST00000004980.5	-	12	1705_1706	c.1227_1228insA	c.(1225-1230)aagtcafs	p.S410fs	SENP1_ENST00000549595.1_Frame_Shift_Ins_p.S410fs|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000551330.1_Frame_Shift_Ins_p.S410fs|SENP1_ENST00000448372.1_Frame_Shift_Ins_p.S410fs|SENP1_ENST00000549518.1_Frame_Shift_Ins_p.S410fs			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	410					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	p.G410fs*3(1)|p.G410fs*4(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AATTTATGACCTTTTTTTTGTG	0.337													13	29	---	---	---	---					T	48458896	-	T	48458895	7	5	153	1	0	1	1	0	0	0	0	0	14133	681	24	0	731	0	SENP1	12	48458895	Frame_Shift_Ins	INS	-	TCGA-CQ-7063-01A-11D-2394-08	8732404	48458895	85393000	81	27973											
KRT75	9119	broad.mit.edu	37	chr12	52822220	52822220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagagccagttctcccCgctgctctgcatcagcaatg	7	10	9	15	1	3	1	1	1	2	1	4	2	3	1	4	0	4	5	4	0	1	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:52822220C>T	ENST00000252245.5	-	7	1422	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	401	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CAGTTCTCCCCGCTGCTCTGC	0.597													9	36					0	0	0	0	T	52822220	C	T	52822220	3	4	153	1	0	0	0	0	1	0	0	0	8540	652	23	1	465	1	KRT75	12	52822220	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	4363325	52822220	81029675	82	27974											
HELB	92797	broad.mit.edu	37	chr12	66700187	66700187	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatggaattccttccagttCttctgcctcgacactttaaa	10	15	5	11	1	2	0	0	0	2	0	5	2	4	1	3	1	1	1	3	1	4	7			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:66700187C>A	ENST00000247815.4	+	3	729	c.670C>A	c.(670-672)Ctt>Att	p.L224I		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	224					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CCTTCCAGTTCTTCTGCCTCG	0.358													11	65					7.03913e-09	7.40385e-09	1	0	A	66700187	C	A	66700187	3	1	153	1	0	0	0	0	1	0	0	0	7095	913	32	2	680	2	HELB	12	66700187	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	13877967	66700187	67151708	83	27975											
SACS	26278	broad.mit.edu	37	chr13	23908832	23908832	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgaaaccaatttctaaaagGagatgtttcagcctatagac	15	12	7	7	0	2	3	1	1	1	2	2	4	2	3	2	1	2	1	2	1	6	6			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr13:23908832G>C	ENST00000382298.3	-	10	9771	c.9183C>G	c.(9181-9183)ctC>ctG	p.L3061L	SACS_ENST00000382292.3_Silent_p.L3061L|SACS_ENST00000402364.1_Silent_p.L2311L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3061					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTCTAAAAGGAGATGTTTCA	0.343													9	45					0	0	0	0	C	23908832	G	C	23908832	2	2	153	1	0	0	0	0	0	0	0	1	13889	1161	41	2		2	SACS	13	23908832	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08		23908832	91261046	84	27976											
RASL11A	387496	broad.mit.edu	37	chr13	27847630	27847630	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccccctctgcactggggtGaactatctcagacagatgcc	9	8	10	14	0	2	3	1	1	2	2	3	3	2	3	3	2	4	1	3	2	2	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr13:27847630G>A	ENST00000241463.4	+	4	1346	c.728G>A	c.(727-729)tGa>tAa	p.*243*		NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	0					positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		GCACTGGGGTGAACTATCTCA	0.483													9	36					0	0	0	0	A	27847630	G	A	27847630	2	1	153	1	0	0	0	0	0	0	0	1	13163	1285	45	2		2	RASL11A	13	27847630	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	3938798	27847630	87322248	85	27977											
CPB2	1361	broad.mit.edu	37	chr13	46641511	46641511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagaaatccacaagcctcagGagattggtatattgccctat	13	11	8	9	0	1	2	1	0	0	2	2	3	2	2	3	2	2	1	3	2	6	6			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr13:46641511G>A	ENST00000181383.4	-	7	649	c.633C>T	c.(631-633)ctC>ctT	p.L211L	CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Intron|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	211					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CAAGCCTCAGGAGATTGGTAT	0.343													9	46					0	0	0	0	A	46641511	G	A	46641511	2	1	153	1	0	0	0	0	0	0	0	1	3827	1161	41	2		2	CPB2	13	46641511	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	18793881	46641511	68528367	86	27978											
MYH7	4625	broad.mit.edu	37	chr14	23884890	23884890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaatcagctcctgctccGccagcttccgggaccgctct	5	10	8	18	3	3	0	2	0	2	0	7	1	6	1	5	1	3	4	5	1	1	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:23884890G>A	ENST00000355349.3	-	35	5267	c.5105C>T	c.(5104-5106)gCg>gTg	p.A1702V	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1702					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		CTCCTGCTCCGCCAGCTTCCG	0.637													20	69					0	0	0	0	A	23884890	G	A	23884890	3	1	153	1	0	0	0	0	1	0	0	0	10109	1087	38	1	726	1	MYH7	14	23884890	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08		23884890	83464650	87	27979											
DAAM1	23002	broad.mit.edu	37	chr14	59789756	59789756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaactctcaaggccgggCtcacgtcctggctcattctg	8	9	10	14	2	4	0	3	0	2	0	6	1	5	0	2	3	2	2	2	3	3	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:59789756C>A	ENST00000395125.1	+	5	610	c.587C>A	c.(586-588)gCt>gAt	p.A196D	DAAM1_ENST00000360909.3_Missense_Mutation_p.A196D|DAAM1_ENST00000351081.1_Missense_Mutation_p.A196D	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	196	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAAGGCCGGGCTCACGTCCTG	0.463													9	34					1.12685e-05	1.14375e-05	1	0	A	59789756	C	A	59789756	3	1	153	1	0	0	0	0	1	0	0	0	4248	797	28	4	605	4	DAAM1	14	59789756	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	35904866	59789756	47559784	88	27980											
NEK9	91754	broad.mit.edu	37	chr14	75576576	75576576	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtgcttcagtcacagtgcTtgacctgccaacaaccccca	9	8	9	15	0	2	1	2	1	0	0	2	1	2	1	4	1	5	2	4	1	2	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:75576576T>C	ENST00000238616.5	-	10	1152	c.994A>G	c.(994-996)Agc>Ggc	p.S332G		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	332					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GTCACAGTGCTTGACCTGCCA	0.428													3	50					0	0	0	0	C	75576576	T	C	75576576	3	2	153	1	0	0	0	0	1	0	0	0	10401	1609	56	5	1997	5	NEK9	14	75576576	Missense_Mutation	SNP	T	TCGA-CQ-7063-01A-11D-2394-08	15786820	75576576	31772964	89	27981											
DIO2	1734	broad.mit.edu	37	chr14	80669361	80669361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcccagccatctgatggatGagcctcatcaatgtagacca	11	8	9	13	1	3	3	2	2	1	1	3	4	3	4	4	1	2	1	4	1	2	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:80669361G>A	ENST00000557010.1	-	4	878	c.493C>T	c.(493-495)Cat>Tat	p.H165Y	DIO2_ENST00000555750.1_Missense_Mutation_p.H201Y|DIO2_ENST00000438257.4_Missense_Mutation_p.H165Y|DIO2_ENST00000557125.1_Silent_p.L39L|DIO2_ENST00000422005.3_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	165					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCTGATGGATGAGCCTCATCA	0.552											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	43					0	0	0	0	A	80669361	G	A	80669361	3	1	153	1	0	0	0	0	1	0	0	0	4562	1290	45	2	332	2	DIO2	14	80669361	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	5092785	80669361	26680179	90	27982											
CCDC88C	440193	broad.mit.edu	37	chr14	91772193	91772193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtgtcaagatctggctGctgaaggtcacgttctgggt	7	12	14	8	1	4	2	2	1	2	1	4	2	4	2	0	3	2	4	0	3	2	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:91772193G>A	ENST00000389857.6	-	19	3359	c.3273C>T	c.(3271-3273)agC>agT	p.S1091S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1091					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGATCTGGCTGCTGAAGGTCA	0.587													16	25					0	0	0	0	A	91772193	G	A	91772193	2	1	153	1	0	0	0	0	0	0	0	1	2892	1310	46	4		4	CCDC88C	14	91772193	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	11102832	91772193	15577347	91	27983											
PPP4R4	57718	broad.mit.edu	37	chr14	94674875	94674875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacagaatcccactgagaCgcttcggagagtgttgccaa	11	7	12	11	3	0	3	0	1	0	3	2	6	1	3	2	1	1	2	2	1	2	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:94674875C>T	ENST00000304338.3	+	3	420	c.266C>T	c.(265-267)aCg>aTg	p.T89M	PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M|PPP4R4_ENST00000555690.1_3'UTR	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	89						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.T89M(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCCACTGAGACGCTTCGGAGA	0.388													9	25					0	0	0	0	T	94674875	C	T	94674875	3	4	153	1	0	0	0	0	1	0	0	0	12481	536	19	1	276	1	PPP4R4	14	94674875	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	2902682	94674875	12674665	92	27984											
PLA2G4F	255189	broad.mit.edu	37	chr15	42434788	42434788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgcagcacaatgggggagCgggggtcctcagccttggca	8	6	17	10	1	1	0	1	0	0	0	2	1	2	1	2	5	4	3	2	5	1	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:42434788C>T	ENST00000397272.3	-	19	2364	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R756H	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	756	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AATGGGGGAGCGGGGGTCCTC	0.632													18	45					0	0	0	0	T	42434788	C	T	42434788	3	4	153	1	0	0	0	0	1	0	0	0	12078	768	27	1	290	1	PLA2G4F	15	42434788	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08		42434788	60096604	93	27985											
CORO2B	10391	broad.mit.edu	37	chr15	69003203	69003203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaacatcctgttcagcGctggctacgactacaaggta	12	8	8	13	2	1	0	1	0	0	0	2	1	2	0	2	2	5	4	2	2	6	4			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:69003203G>A	ENST00000543950.1	+	4	805	c.451G>A	c.(451-453)Gct>Act	p.A151T	CORO2B_ENST00000540068.1_Missense_Mutation_p.A151T|CORO2B_ENST00000261861.5_Missense_Mutation_p.A151T|CORO2B_ENST00000566799.1_Missense_Mutation_p.A156T	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	156					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTGTTCAGCGCTGGCTACGA	0.622													3	10					0	0	0	0	A	69003203	G	A	69003203	3	1	153	1	0	0	0	0	1	0	0	0	3787	1087	38	1	480	1	CORO2B	15	69003203	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	26568415	69003203	33528189	94	27986											
CLK3	1198	broad.mit.edu	37	chr15	74911679	74911679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcctcccccacgaagatctCggtccagaaggtgagaggga	11	5	13	12	2	1	3	0	1	1	3	4	6	3	4	4	3	1	0	4	3	2	0			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:74911679C>T	ENST00000395066.3	+	2	1047	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	CLK3_ENST00000348245.3_Missense_Mutation_p.R48W|CLK3_ENST00000352989.5_Missense_Mutation_p.R48W|CLK3_ENST00000345005.4_Missense_Mutation_p.R48W	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	196	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						ACGAAGATCTCGGTCCAGAAG	0.577													31	88					0	0	0	0	T	74911679	C	T	74911679	3	4	153	1	0	0	0	0	1	0	0	0	3568	875	31	1	592	1	CLK3	15	74911679	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	5908476	74911679	27619713	95	27987											
RASGRF1	5923	broad.mit.edu	37	chr15	79292223	79292223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgacaggaggtcatgaCgactccattgttataggaaa	13	10	10	8	2	2	1	2	1	0	0	3	5	3	3	1	3	0	1	1	3	3	4	rs141523460	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:79292223C>T	ENST00000419573.3	-	18	2930	c.2656G>A	c.(2656-2658)Gtc>Atc	p.V886I	RASGRF1_ENST00000558480.2_Missense_Mutation_p.V870I|RASGRF1_ENST00000394745.3_Missense_Mutation_p.V102I|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	888					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGGTCATGACGACTCCATTG	0.567													19	73					0	0	0	0	T	79292223	C	T	79292223	3	4	153	1	0	0	0	0	1	0	0	0	13154	536	19	1	1209	1	RASGRF1	15	79292223	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	4380544	79292223	23239169	96	27988											
TMC3	342125	broad.mit.edu	37	chr15	81636335	81636335	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggaagaagtctatgagcaGaatgctcgccacggtgaaga	13	7	13	8	3	1	5	0	2	1	3	3	6	1	6	1	2	2	2	1	2	5	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:81636335G>C	ENST00000558726.1	-	14	1708	c.1573C>G	c.(1573-1575)Ctg>Gtg	p.L525V	TMC3_ENST00000359440.5_Missense_Mutation_p.L524V|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	524						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCTATGAGCAGAATGCTCGCC	0.512													9	35					0	0	0	0	C	81636335	G	C	81636335	3	2	153	1	0	0	0	0	1	0	0	0	16080	933	33	2	1768	2	TMC3	15	81636335	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	2344112	81636335	20895057	97	27989											
MCTP2	55784	broad.mit.edu	37	chr15	94910964	94910964	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggggtctccgtctctgatCtgtgtgtctgccccttagca	3	13	12	13	2	4	1	0	1	4	0	6	1	4	1	3	2	2	1	3	2	1	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:94910964C>T	ENST00000357742.4	+	10	1432	c.1432C>T	c.(1432-1434)Ctg>Ttg	p.L478L	MCTP2_ENST00000451018.3_Silent_p.L478L|MCTP2_ENST00000331706.4_Silent_p.L66L|MCTP2_ENST00000557742.1_Silent_p.L66L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	478					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CGTCTCTGATCTGTGTGTCTG	0.547													17	51					0	0	0	0	T	94910964	C	T	94910964	2	4	153	1	0	0	0	0	0	0	0	1	9470	912	32	2		2	MCTP2	15	94910964	Silent	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	13274629	94910964	7620428	98	27990											
LRRK1	79705	broad.mit.edu	37	chr15	101592104	101592104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctcctgccccagacacccgGacctccccgtgccgctgcag	5	6	9	21	3	1	1	0	0	1	1	3	2	2	2	8	1	3	2	8	1	0	0			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:101592104G>A	ENST00000284395.5	+	25	4019	c.3619G>A	c.(3619-3621)Gac>Aac	p.D1207N	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.D1210N			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1210					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGACACCCGGACCTCCCCGT	0.617													12	29					0	0	0	0	A	101592104	G	A	101592104	3	1	153	1	0	0	0	0	1	0	0	0	9096	1174	41	2	3718	2	LRRK1	15	101592104	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	6681140	101592104	939288	99	27991											
CHSY1	22856	broad.mit.edu	37	chr15	101718821	101718821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcggagtccattcctcttCgagggggctggccgtcaact	5	9	15	12	3	2	0	1	0	1	0	5	2	4	1	3	5	1	1	3	5	1	2	rs143549949		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:101718821C>T	ENST00000254190.3	-	3	1656	c.1181G>A	c.(1180-1182)cGa>cAa	p.R394Q	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	394					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATTCCTCTTCGAGGGGGCTG	0.542													22	72					0	0	0	0	T	101718821	C	T	101718821	3	4	153	1	0	0	0	0	1	0	0	0	3441	884	31	1	1231	1	CHSY1	15	101718821	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	126717	101718821	812571	100	27992											
NARFL	64428	broad.mit.edu	37	chr16	786324	786324	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgtaggattcagctgaaaCcgtgcagccagcgatgctct	9	10	11	11	2	3	1	1	1	2	0	3	3	3	2	2	1	6	4	2	1	2	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:786324C>G	ENST00000540986.1	-	3	1510	c.75G>C	c.(73-75)cgG>cgC	p.R25R	NARFL_ENST00000301694.5_Intron|NARFL_ENST00000251588.2_Silent_p.R127R|NARFL_ENST00000568545.1_Silent_p.R25R			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	127					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TCAGCTGAAACCGTGCAGCCA	0.502													26	71					0	0	0	0	G	786324	C	G	786324	2	3	153	1	0	0	0	0	0	0	0	1	10238	494	18	4		4	NARFL	16	786324	Silent	SNP	C	TCGA-CQ-7063-01A-11D-2394-08		786324	89568429	101	27993											
LCMT1	51451	broad.mit.edu	37	chr16	25182072	25182072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatgggtgggaaacagcatCggccgtcgacatgatggagt	11	7	16	7	3	0	1	0	1	0	0	2	5	0	3	1	4	2	1	1	4	2	0			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:25182072C>T	ENST00000399069.3	+	9	985	c.830C>T	c.(829-831)tCg>tTg	p.S277L	LCMT1_ENST00000380966.4_Missense_Mutation_p.S222L|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	277							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GAAACAGCATCGGCCGTCGAC	0.493													19	78					0	0	0	0	T	25182072	C	T	25182072	3	4	153	1	0	0	0	0	1	0	0	0	8731	893	31	1	864	1	LCMT1	16	25182072	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	24395748	25182072	65172681	102	27994											
ARMC5	79798	broad.mit.edu	37	chr16	31470893	31470893	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactcgctctcgttctgcctCgcgcagctcgcggcggcggc	2	8	14	17	8	2	0	0	0	2	0	6	1	2	0	1	3	2	4	1	3	0	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:31470893C>T	ENST00000457010.2	+	1	749	c.48C>T	c.(46-48)ctC>ctT	p.L16L	RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000563544.1_Silent_p.L16L|ARMC5_ENST00000408912.3_Silent_p.L111L|ARMC5_ENST00000538189.1_Silent_p.L48L|ARMC5_ENST00000268314.4_Silent_p.L16L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	16							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGTTCTGCCTCGCGCAGCTCG	0.716													5	16					0	0	0	0	T	31470893	C	T	31470893	2	4	153	1	0	0	0	0	0	0	0	1	958	871	31	1		1	ARMC5	16	31470893	Silent	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	6288821	31470893	58883860	103	27995											
LPCAT2	54947	broad.mit.edu	37	chr16	55563782	55563782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaccagttttggtgtccCgtgtagatccggattcccga	7	12	11	11	3	0	1	0	0	0	1	3	3	3	2	4	2	2	3	4	2	2	4	rs142700202		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:55563782C>T	ENST00000262134.5	+	4	749	c.565C>T	c.(565-567)Cgt>Tgt	p.R189C		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	189					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TTTGGTGTCCCGTGTAGATCC	0.398													4	12					0	0	0	0	T	55563782	C	T	55563782	3	4	153	1	0	0	0	0	1	0	0	0	8975	652	23	1	579	1	LPCAT2	16	55563782	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	24092889	55563782	34790971	104	27996											
PLCG2	5336	broad.mit.edu	37	chr16	81971422	81971422	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggcgcacgggctacgttCtgcagcctgagagcatgagg	8	7	16	10	3	1	2	0	2	1	1	1	3	1	2	1	3	4	5	1	3	1	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:81971422C>T	ENST00000359376.3	+	28	3326	c.3112C>T	c.(3112-3114)Ctg>Ttg	p.L1038L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1038	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGGCTACGTTCTGCAGCCTGA	0.522													19	73					0	0	0	0	T	81971422	C	T	81971422	2	4	153	1	0	0	0	0	0	0	0	1	12108	912	32	2		2	PLCG2	16	81971422	Silent	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	26407640	81971422	8383331	105	27997											
C17orf97	400566	broad.mit.edu	37	chr17	263198	263198	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaaggaaaggattcgcatCtataaactgaatcggagaaa	18	7	11	5	2	1	3	0	1	1	2	3	7	1	5	0	3	1	1	0	3	7	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:263198C>G	ENST00000360127.6	+	2	580	c.564C>G	c.(562-564)atC>atG	p.I188M	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	188										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GGATTCGCATCTATAAACTGA	0.567													14	65					0	0	0	0	G	263198	C	G	263198	3	3	153	1	0	0	0	0	1	0	0	0	1909	903	32	2		2	C17orf97	17	263198	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08		263198	80932012	106	27998											
DPH1	1801	broad.mit.edu	37	chr17	1936876	1936876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctgcaggcagcaatcCgggtcctgccttccaactac	8	8	9	16	1	1	0	1	0	0	0	4	0	4	0	4	2	6	4	4	2	3	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:1936876C>T	ENST00000263083.6	+	2	199	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	DPH1_ENST00000570477.1_5'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	52					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCAGCAATCCGGGTCCTGCC	0.582													23	94					0	0	0	0	T	1936876	C	T	1936876	3	4	153	1	0	0	0	0	1	0	0	0	4755	643	23	1	160	1	DPH1	17	1936876	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	1673678	1936876	79258334	107	27999											
NLRP1	22861	broad.mit.edu	37	chr17	5461801	5461801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacacacatgcccatttcttCgaaatgggccatcacttgtg	10	12	7	12	1	2	0	1	0	1	0	3	1	2	0	2	1	2	0	2	1	2	4			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:5461801C>T	ENST00000345221.3	-	4	2769	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	NLRP1_ENST00000577119.1_Missense_Mutation_p.E739K|NLRP1_ENST00000572272.1_Missense_Mutation_p.E739K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E739K|NLRP1_ENST00000269280.4_Missense_Mutation_p.E739K|NLRP1_ENST00000262467.5_Missense_Mutation_p.E739K|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	739					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.E739K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCCATTTCTTCGAAATGGGCC	0.512													21	93					0	0	0	0	T	5461801	C	T	5461801	3	4	153	1	0	0	0	0	1	0	0	0	10541	893	31	1	2337	1	NLRP1	17	5461801	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	3524925	5461801	75733409	108	28000											
TP53	7157	broad.mit.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	8	7	14	12	2	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	2	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:7578395G>T	ENST00000420246.2	-	5	667	c.535C>A	c.(535-537)Cat>Aat	p.H179N	TP53_ENST00000359597.4_Missense_Mutation_p.H179N|TP53_ENST00000269305.4_Missense_Mutation_p.H179N|TP53_ENST00000445888.2_Missense_Mutation_p.H179N|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179N|TP53_ENST00000455263.2_Missense_Mutation_p.H179N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCTCATGGTGGGGGCAG	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	42					1.39806e-14	1.48589e-14	1	0	T	7578395	G	T	7578395	3	4	153	1	0	0	0	0	1	0	0	0	16476	1348	47	4	763	4	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	2116594	7578395	73616815	109	28001											
ALDH3A1	218	broad.mit.edu	37	chr17	19641684	19641684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaggccttcatcattcatCagaggcctcaccaggcaaga	11	9	8	13	0	6	2	6	0	0	2	6	2	6	2	3	3	0	1	3	3	1	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:19641684C>T	ENST00000457500.2	-	9	1628	c.1299G>A	c.(1297-1299)ctG>ctA	p.L433L	ALDH3A1_ENST00000225740.6_Silent_p.L433L|ALDH3A1_ENST00000444455.1_Silent_p.L433L|ALDH3A1_ENST00000494157.2_Silent_p.L360L|ALDH3A1_ENST00000395555.3_Silent_p.L369L|RP11-311F12.2_ENST00000580884.1_RNA	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	433					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CATCATTCATCAGAGGCCTCA	0.627													26	95					0	0	0	0	T	19641684	C	T	19641684	2	4	153	1	0	0	0	0	0	0	0	1	497	813	29	2		2	ALDH3A1	17	19641684	Silent	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	12063289	19641684	61553526	110	28002											
KRT36	8689	broad.mit.edu	37	chr17	39643396	39643396	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagcgggcctcggtttcGgccagggtggattccaagga	6	9	16	10	3	0	0	0	0	0	0	3	2	1	2	3	6	1	2	3	6	2	3	rs141243083		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:39643396G>T	ENST00000393986.2	-	7	1076	c.864C>A	c.(862-864)gcC>gcA	p.A288A	KRT36_ENST00000328119.6_Silent_p.A338A			O76013	KRT36_HUMAN	keratin 36	338	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCTCGGTTTCGGCCAGGGTGG	0.622													17	82					5.03518e-11	5.32366e-11	1	0	T	39643396	G	T	39643396	2	4	153	1	0	0	0	0	0	0	0	1	8525	1103	39	3		3	KRT36	17	39643396	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	20001712	39643396	41551814	111	28003											
GFAP	2670	broad.mit.edu	37	chr17	42988769	42988769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctcctgataactggccGcctcccgcacgtgccgctcc	4	7	10	20	5	0	1	0	1	0	0	3	1	3	1	7	1	2	2	7	1	1	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:42988769G>A	ENST00000253408.5	-	6	1027	c.962C>T	c.(961-963)gCg>gTg	p.A321V	GFAP_ENST00000435360.2_Missense_Mutation_p.A321V|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.A321V	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	321	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ATAACTGGCCGCCTCCCGCAC	0.682													25	52					0	0	0	0	A	42988769	G	A	42988769	3	1	153	1	0	0	0	0	1	0	0	0	6388	1087	38	1	481	1	GFAP	17	42988769	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	3345373	42988769	38206441	112	28004											
CRHR1	1394	broad.mit.edu	37	chr17	43912090	43912090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccccacctccccaacccGtgtcagctttcacagcatca	9	8	4	20	1	3	0	3	0	0	0	5	0	5	0	6	0	3	2	6	0	1	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:43912090G>A	ENST00000314537.5	+	13	1433	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	CRHR1_ENST00000577353.1_Missense_Mutation_p.R389H|CRHR1_ENST00000398285.3_Missense_Mutation_p.R432H|CRHR1_ENST00000352855.5_Missense_Mutation_p.R363H|CRHR1_ENST00000293493.7_Missense_Mutation_p.R228H|CRHR1_ENST00000339069.5_Missense_Mutation_p.V257M	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	432					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCCCCAACCCGTGTCAGCTTT	0.642													13	62					0	0	0	0	A	43912090	G	A	43912090	3	1	153	1	0	0	0	0	1	0	0	0	3901	1145	40	1	1349	1	CRHR1	17	43912090	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	923321	43912090	37283120	113	28005											
CLTC	1213	broad.mit.edu	37	chr17	57746152	57746152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaaggtctcttttattttCtgggatccattgttaacttt	7	22	6	6	0	2	0	0	0	2	0	4	1	3	1	1	2	1	1	1	2	3	9			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:57746152C>G	ENST00000269122.3	+	14	2417	c.2143C>G	c.(2143-2145)Ctg>Gtg	p.L715V	CLTC_ENST00000393043.1_Missense_Mutation_p.L715V|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	715	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTTTTATTTTCTGGGATCCAT	0.328			T	"ALK, TFE3"	"ALCL, renal "								6	18					0	0	0	0	G	57746152	C	G	57746152	3	3	153	1	0	0	0	0	1	0	0	0	3596	912	32	2	2197	2	CLTC	17	57746152	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	13834062	57746152	23449058	114	28006											
LRRC45	201255	broad.mit.edu	37	chr17	79982581	79982581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcctagggcaacaaccttCgggctgcaggggccgaggct	7	7	14	13	2	1	0	0	0	1	0	3	1	1	0	3	5	3	4	3	5	3	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:79982581C>T	ENST00000306688.3	+	3	637	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	LRRC45_ENST00000583383.1_3'UTR	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	99						centrosome		p.R99W(1)		lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAACAACCTTCGGGCTGCAGG	0.622													11	52					0	0	0	0	T	79982581	C	T	79982581	3	4	153	1	0	0	0	0	1	0	0	0	9066	875	31	1	305	1	LRRC45	17	79982581	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	22236429	79982581	1212629	115	28007											
PTPRM	5797	broad.mit.edu	37	chr18	8379305	8379305	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatcaccatcgatggggaGagcagcaactacatcaatgc	13	7	9	12	1	3	1	3	0	0	1	4	3	3	1	1	2	5	2	1	2	3	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:8379305G>C	ENST00000332175.8	+	26	4751	c.3714G>C	c.(3712-3714)gaG>gaC	p.E1238D	PTPRM_ENST00000400053.4_Missense_Mutation_p.E1176D|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1252D|PTPRM_ENST00000444013.1_Missense_Mutation_p.E1025D|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1251D	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1238	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCGATGGGGAGAGCAGCAACT	0.617													16	63					0	0	0	0	C	8379305	G	C	8379305	3	2	153	1	0	0	0	0	1	0	0	0	12888	933	33	2	3863	2	PTPRM	18	8379305	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08		8379305	69697943	116	28008											
SPIRE1	56907	broad.mit.edu	37	chr18	12452279	12452279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgctccgaagtggccgatGatgggcagtggagggttttt	8	11	16	6	2	0	1	0	1	0	0	1	4	1	2	2	4	1	3	2	4	2	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:12452279G>A	ENST00000409402.4	-	16	2254	c.1987C>T	c.(1987-1989)Cat>Tat	p.H663Y	SPIRE1_ENST00000309836.5_Missense_Mutation_p.H452Y|SPIRE1_ENST00000410092.3_Missense_Mutation_p.H649Y|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Missense_Mutation_p.H529Y	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	663						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AGTGGCCGATGATGGGCAGTG	0.502													7	40					0	0	0	0	A	12452279	G	A	12452279	3	1	153	1	0	0	0	0	1	0	0	0	15161	1290	45	2	291	2	SPIRE1	18	12452279	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	4072974	12452279	65624969	117	28009											
SPIRE1	56907	broad.mit.edu	37	chr18	12452292	12452292	+	Silent	SNP	G	G	A																															ggccgatgatgggcagtggaGggtttttctgacctcatact																										TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:12452292G>A	ENST00000409402.4	-	16	2241	c.1974C>T	c.(1972-1974)ccC>ccT	p.P658P	SPIRE1_ENST00000309836.5_Silent_p.P447P|SPIRE1_ENST00000410092.3_Silent_p.P644P|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Silent_p.P524P	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	658						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGGCAGTGGAGGGTTTTTCTG	0.512													9	44					0	0	0	0	A	12452292	G	A	12452292	2	1	153	1	0	0	0	0	0	0	0	1	15161	987	35	4		4	SPIRE1	18	12452292	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	13	12452292	65624956	118	28010	221	2									
SPIRE1	56907	broad.mit.edu	37	chr18	12452302	12452302	+	Missense_Mutation	SNP	G	G	A																															gggcagtggagggtttttctGacctcatactactttcccct																										TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:12452302G>A	ENST00000409402.4	-	16	2231	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L	SPIRE1_ENST00000309836.5_Missense_Mutation_p.S444L|SPIRE1_ENST00000410092.3_Missense_Mutation_p.S641L|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Missense_Mutation_p.S521L	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	655						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGGTTTTTCTGACCTCATACT	0.502													9	43					0	0	0	0	A	12452302	G	A	12452302	3	1	153	1	0	0	0	0	1	0	0	0	15161	1294	45	2	314	2	SPIRE1	18	12452302	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	10	12452302	65624946	119	28011	221	2									
OSBPL1A	114876	broad.mit.edu	37	chr18	21892035	21892035	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaacagtagtgagtgctGtaagcagaatgttcttctat	11	13	12	5	0	2	2	0	1	2	1	2	3	2	3	0	1	3	5	0	1	5	5			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:21892035G>A	ENST00000319481.3	-	13	1211	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	335					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AGTGAGTGCTGTAAGCAGAAT	0.393													32	110					0	0	0	0	A	21892035	G	A	21892035	2	1	153	1	0	0	0	0	0	0	0	1	11348	1372	48	4		4	OSBPL1A	18	21892035	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	9439733	21892035	56185213	120	28012											
LIPG	9388	broad.mit.edu	37	chr18	47091826	47091826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccttagaagactgcagtttCaacatgacagctaaaacctt	14	10	6	11	0	1	3	1	1	0	2	1	3	1	3	2	0	4	3	2	0	5	4			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:47091826C>G	ENST00000261292.4	+	2	515	c.237C>G	c.(235-237)ttC>ttG	p.F79L	LIPG_ENST00000580036.1_Missense_Mutation_p.F79L|LIPG_ENST00000427224.2_Missense_Mutation_p.F79L|LIPG_ENST00000577628.1_Missense_Mutation_p.F115L	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	79					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	p.F79L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACTGCAGTTTCAACATGACAG	0.507													20	58					0	0	0	0	G	47091826	C	G	47091826	3	3	153	1	0	0	0	0	1	0	0	0	8878	825	29	2	243	2	LIPG	18	47091826	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	25199791	47091826	30985422	121	28013											
LIPG	9388	broad.mit.edu	37	chr18	47113116	47113116	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttcttttccctcctagActgacattttgtacagaaga	9	16	7	9	0	1	4	0	1	1	3	3	4	3	4	2	1	1	2	2	1	3	7			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:47113116A>G	ENST00000261292.4	+	9	1655	c.1376_splice	c.e9-1	p.K459_splice	LIPG_ENST00000427224.2_Splice_Site_p.K385_splice	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	459	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TCCCTCCTAGACTGACATTTT	0.507													7	39					0	0	0	0	G	47113116	A	G	47113116	5	3	153	1	0	0	0	0	0	0	1	0	8878	289	10	5	1411	5	LIPG	18	47113116	Splice_Site	SNP	A	TCGA-CQ-7063-01A-11D-2394-08	21290	47113116	30964132	122	28014											
ELAC1	55520	broad.mit.edu	37	chr18	48513077	48513077	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaatttctccccaagatgtCttaaaaaagcctattgttgg	13	13	6	9	0	2	1	0	0	2	1	3	1	2	1	3	1	1	1	3	1	6	5			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:48513077C>G	ENST00000269466.3	+	4	821	c.714C>G	c.(712-714)gtC>gtG	p.V238V	RP11-729L2.2_ENST00000590722.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron|SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000588577.1_3'UTR	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	238					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		CCCAAGATGTCTTAAAAAAGC	0.433													14	48					0	0	0	0	G	48513077	C	G	48513077	2	3	153	1	0	0	0	0	0	0	0	1	5084	900	32	2		2	ELAC1	18	48513077	Silent	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	1399961	48513077	29564171	123	28015											
RAX	30062	broad.mit.edu	37	chr18	56939841	56939841	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccttggggcagtagggtcGaggggctggggcgacgaggc	5	6	21	9	3	0	0	0	0	0	0	2	3	1	0	1	8	0	3	1	8	1	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:56939841G>A	ENST00000334889.3	-	2	481	c.295C>T	c.(295-297)Cga>Tga	p.R99*	RAX_ENST00000256852.7_Intron	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	99					visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		CAGTAGGGTCGAGGGGCTGGG	0.731													8	27					0	0	0	0	A	56939841	G	A	56939841	4	1	153	1	0	0	0	0	0	1	0	0	13178	1066	37	1	753	1	RAX	18	56939841	Nonsense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	8426764	56939841	21137407	124	28016											
ZNRF4	148066	broad.mit.edu	37	chr19	5455986	5455986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgccatcgtgctgatcCgccgctacgactgcaccttc	5	9	11	16	5	0	1	0	1	0	0	3	2	1	1	4	1	3	3	4	1	1	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:5455986C>T	ENST00000222033.4	+	1	561	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	162	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CGTGCTGATCCGCCGCTACGA	0.667													6	68					0	0	0	0	T	5455986	C	T	5455986	3	4	153	1	0	0	0	0	1	0	0	0	18307	652	23	1	486	1	ZNRF4	19	5455986	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08		5455986	53672997	125	28017											
C19orf45	374877	broad.mit.edu	37	chr19	7569219	7569219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcctccggagtggagctggGagactgcaagatcagctatg	9	8	14	10	1	1	2	1	0	0	2	3	5	3	4	2	3	3	3	2	3	2	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:7569219G>A	ENST00000361664.2	+	4	845	c.704G>A	c.(703-705)gGa>gAa	p.G235E		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	235										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GTGGAGCTGGGAGACTGCAAG	0.612													16	66					0	0	0	0	A	7569219	G	A	7569219	3	1	153	1	0	0	0	0	1	0	0	0	1946	1174	41	2	714	2	C19orf45	19	7569219	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	2113233	7569219	51559764	126	28018											
MAP2K7	5609	broad.mit.edu	37	chr19	7976017	7976017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gactccaaagccaagacgcgGagcgccggctgtgccgccta	9	4	13	15	5	0	1	0	0	0	1	1	3	1	2	5	2	3	1	5	2	3	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:7976017G>A	ENST00000545011.1	+	7	1019	c.954G>A	c.(952-954)cgG>cgA	p.R318R	MAP2K7_ENST00000397979.3_Silent_p.R276R|MAP2K7_ENST00000397983.3_Silent_p.R292R|MAP2K7_ENST00000397981.3_Silent_p.R276R			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	276	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CCAAGACGCGGAGCGCCGGCT	0.692													5	32					0	0	0	0	A	7976017	G	A	7976017	2	1	153	1	0	0	0	0	0	0	0	1	9311	1161	41	2		2	MAP2K7	19	7976017	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	406798	7976017	51152966	127	28019											
MAST1	22983	broad.mit.edu	37	chr19	12984814	12984814	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcggacaagaagggcgcGctgcgcaaacacagcctcga	12	3	14	12	5	0	1	0	0	0	1	1	3	0	2	1	2	4	2	1	2	3	0			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:12984814G>A	ENST00000251472.4	+	26	3882	c.3843G>A	c.(3841-3843)gcG>gcA	p.A1281A		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1281					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGAAGGGCGCGCTGCGCAAAC	0.677													5	11					0	0	0	0	A	12984814	G	A	12984814	2	1	153	1	0	0	0	0	0	0	0	1	9393	1074	38	1		1	MAST1	19	12984814	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	5008797	12984814	46144169	128	28020											
CRLF1	9244	broad.mit.edu	37	chr19	18710558	18710558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagggtccagtagaggccctCggcggtggctcctggtgggt	4	8	19	10	2	0	1	0	0	0	1	3	2	2	1	3	7	0	2	3	7	1	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:18710558C>T	ENST00000392386.3	-	2	407	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	72	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TAGAGGCCCTCGGCGGTGGCT	0.662													3	11					0	0	0	0	T	18710558	C	T	18710558	3	4	153	1	0	0	0	0	1	0	0	0	3916	893	31	1	1086	1	CRLF1	19	18710558	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	5725744	18710558	40418425	129	28021											
ZNF91	7644	broad.mit.edu	37	chr19	23542504	23542504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacctcttatgtctagttaGggttgaagattggctaaatg	11	14	10	6	0	2	2	0	1	2	1	2	2	2	2	1	2	1	3	1	2	7	6			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:23542504G>C	ENST00000300619.7	-	4	3482	c.3277C>G	c.(3277-3279)Cta>Gta	p.L1093V	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.L1061V	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1093						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTCTAGTTAGGGTTGAAGAT	0.393													9	50					0	0	0	0	C	23542504	G	C	23542504	3	2	153	1	0	0	0	0	1	0	0	0	18293	991	35	4	302	4	ZNF91	19	23542504	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	4831946	23542504	35586479	130	28022											
ZNF568	374900	broad.mit.edu	37	chr19	37488171	37488171	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacatcttattcgacatcaGagtgtccatactggggagaa	12	11	9	9	1	3	2	2	0	1	2	5	4	4	2	1	2	1	0	1	2	3	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:37488171G>A	ENST00000455427.2	+	9	1715	c.1386G>A	c.(1384-1386)caG>caA	p.Q462Q		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCGACATCAGAGTGTCCATA	0.448													4	8					0	0	0	0	A	37488171	G	A	37488171	2	1	153	1	0	0	0	0	0	0	0	1	18094	957	33	2		2	ZNF568	19	37488171	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	13945667	37488171	21640812	131	28023											
CBLC	23624	broad.mit.edu	37	chr19	45296736	45296736	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgacctcccccagcactcGgacagccagacctgcccctt	7	5	7	22	2	0	1	0	0	0	1	2	3	1	2	8	1	3	1	8	1	0	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:45296736G>A	ENST00000270279.3	+	8	1206	c.1143G>A	c.(1141-1143)tcG>tcA	p.S381S	CBLC_ENST00000341505.4_Silent_p.S335S	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	381					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain 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)				CCCAGCACTCGGACAGCCAGA	0.627			M		AML								4	21					0	0	0	0	A	45296736	G	A	45296736	2	1	153	1	0	0	0	0	0	0	0	1	2727	1103	39	1		1	CBLC	19	45296736	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	7808565	45296736	13832247	132	28024											
PPP1R13L	10848	broad.mit.edu	37	chr19	45889216	45889216	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctggctcgggtcgttcatCtgagtgcaccgggggagggg	4	8	20	9	3	2	1	1	1	1	0	4	2	2	2	1	7	1	4	1	7	0	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:45889216C>G	ENST00000418234.2	-	10	2026		c.e10-1		PPP1R13L_ENST00000360957.5_Splice_Site	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like						apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGTCGTTCATCTGAGTGCACC	0.657													3	8					0	0	0	0	G	45889216	C	G	45889216	5	3	153	1	0	0	0	0	0	0	1	0	12434	927	32	2	555	2	PPP1R13L	19	45889216	Splice_Site	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	592480	45889216	13239767	133	28025											
TSKS	60385	broad.mit.edu	37	chr19	50243317	50243317	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcagcctccttcctcactCtggcttcatcttgtctgtca	4	15	5	17	0	7	0	4	0	3	0	9	0	9	0	4	1	1	1	4	1	0	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:50243317C>G	ENST00000246801.3	-	10	1703	c.1622_splice	c.e10+1	p.E541_splice	TSKS_ENST00000358830.3_Splice_Site_p.E341_splice	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	541							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTTCCTCACTCTGGCTTCATC	0.622													38	127					0	0	0	0	G	50243317	C	G	50243317	5	3	153	1	0	0	0	0	0	0	1	0	16721	927	32	2	165	2	TSKS	19	50243317	Splice_Site	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	4354101	50243317	8885666	134	28026											
TNNT1	7138	broad.mit.edu	37	chr19	55649431	55649431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctcttcctcttccttcctCatcttctcctcctgtgggaa	3	16	5	17	0	5	0	1	0	4	0	10	1	9	1	6	1	0	0	6	1	1	4			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:55649431C>G	ENST00000588981.1	-	10	603	c.399G>C	c.(397-399)atG>atC	p.M133I	TNNT1_ENST00000587758.1_Missense_Mutation_p.M122I|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000588426.1_Missense_Mutation_p.M30I|TNNT1_ENST00000356783.5_Missense_Mutation_p.M122I|TNNT1_ENST00000587465.2_Missense_Mutation_p.M63I|TNNT1_ENST00000291901.8_Missense_Mutation_p.M133I|TNNT1_ENST00000536926.1_Missense_Mutation_p.M122I|TNNT1_ENST00000585321.2_Missense_Mutation_p.M63I	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	133					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CTTCCTTCCTCATCTTCTCCT	0.567													11	64					0	0	0	0	G	55649431	C	G	55649431	3	3	153	1	0	0	0	0	1	0	0	0	16424	826	29	2	457	2	TNNT1	19	55649431	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	5406114	55649431	3479552	135	28027											
SIRPB1	10326	broad.mit.edu	37	chr20	1552368	1552368	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtgtgagggtcttctacctCggatggcctcagacaagttg	7	11	14	9	1	3	2	1	1	2	1	4	3	3	3	2	4	1	1	2	4	2	3	rs144175019	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:1552368C>G	ENST00000381605.4	-	3	813	c.749G>C	c.(748-750)cGa>cCa	p.R250P	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	250					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TCTTCTACCTCGGATGGCCTC	0.597													19	60					0	0	0	0	G	1552368	C	G	1552368	3	3	153	1	0	0	0	0	1	0	0	0	14421	884	31	3	459	3	SIRPB1	20	1552368	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08		1552368	61473152	136	28028											
MAP1LC3A	84557	broad.mit.edu	37	chr20	33147238	33147238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaccatgtcaacatgagcGagttggtcaagatcatccgg	11	8	12	10	3	3	2	3	1	0	1	4	4	4	3	2	3	2	1	2	3	2	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:33147238G>A	ENST00000360668.3	+	3	945	c.184G>A	c.(184-186)Gag>Aag	p.E62K	MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.E62K|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.E66K|MAP1LC3A_ENST00000476428.1_3'UTR			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	62					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding	p.E66*(1)		cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CAACATGAGCGAGTTGGTCAA	0.642													9	26					0	0	0	0	A	33147238	G	A	33147238	3	1	153	1	0	0	0	0	1	0	0	0	9299	1059	37	1	250	1	MAP1LC3A	20	33147238	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	31594870	33147238	29878282	137	28029											
C20orf24	55969	broad.mit.edu	37	chr20	35240503	35240503	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagtccaaaggaccctcttGattacagcacaggaacttga	13	8	8	12	0	1	2	0	2	1	0	2	4	2	4	3	2	3	1	3	2	3	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:35240503G>C	ENST00000342422.3	+	3	439	c.309G>C	c.(307-309)ttG>ttC	p.L103F	C20orf24_ENST00000344795.3_3'UTR|TGIF2-C20orf24_ENST00000558530.1_3'UTR|C20orf24_ENST00000373852.5_3'UTR	NM_199483.2	NP_955777.1			chromosome 20 open reading frame 24											breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGACCCTCTTGATTACAGCAC	0.507													78	307					0	0	0	0	C	35240503	G	C	35240503	3	2	153	1	0	0	0	0	1	0	0	0	2125	1281	45	2	453	2	C20orf24	20	35240503	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	2093265	35240503	27785017	138	28030											
RBL1	5933	broad.mit.edu	37	chr20	35661155	35661155	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgctttagtcagattggtCtgttttggagaagcaccaat	9	15	11	6	0	2	2	1	0	1	2	2	3	2	2	1	2	2	3	1	2	3	5	rs139292363	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:35661155C>T	ENST00000373664.3	-	16	2361	c.2295G>A	c.(2293-2295)caG>caA	p.Q765Q	RBL1_ENST00000344359.3_Silent_p.Q765Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	765	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCAGATTGGTCTGTTTTGGAG	0.388													46	153					0	0	0	0	T	35661155	C	T	35661155	2	4	153	1	0	0	0	0	0	0	0	1	13191	912	32	2		2	RBL1	20	35661155	Silent	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	420652	35661155	27364365	139	28031											
ACOT8	10005	broad.mit.edu	37	chr20	44472992	44472992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtttactggcttgatctCaatggggacctcctgagcag	7	12	13	9	0	1	2	1	2	1	0	3	3	2	3	2	4	2	3	2	4	2	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:44472992C>T	ENST00000217455.4	-	4	646	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	186					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GGCTTGATCTCAATGGGGACC	0.552													14	48					0	0	0	0	T	44472992	C	T	44472992	3	4	153	1	0	0	0	0	1	0	0	0	156	835	29	2	415	2	ACOT8	20	44472992	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	8811837	44472992	18552528	140	28032											
DOK5	55816	broad.mit.edu	37	chr20	53227001	53227001	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctatcagaaagtccactCtgctgccttggccatagccg	9	10	8	14	1	3	1	1	0	2	1	4	1	4	1	4	1	3	1	4	1	3	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:53227001C>G	ENST00000262593.5	+	6	1024	c.674C>G	c.(673-675)tCt>tGt	p.S225C	DOK5_ENST00000395939.1_Missense_Mutation_p.S117C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	225	IRS-type PTB.			SAALAIAEQH -> LLQMKMSERA (in Ref. 1; AAF66443).			insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			AAAGTCCACTCTGCTGCCTTG	0.498													11	53					0	0	0	0	G	53227001	C	G	53227001	3	3	153	1	0	0	0	0	1	0	0	0	4736	913	32	2	696	2	DOK5	20	53227001	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	8754009	53227001	9798519	141	28033											
STX16	8675	broad.mit.edu	37	chr20	57246299	57246299	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgccagattgtacagtcCatttctgacctgaatgaaat	12	13	7	9	1	1	4	0	3	1	1	3	4	2	4	3	0	1	1	3	0	3	4			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:57246299C>T	ENST00000371141.4	+	7	1462	c.738C>T	c.(736-738)tcC>tcT	p.S246S	STX16_ENST00000361830.3_Silent_p.S246S|STX16-NPEPL1_ENST00000530122.1_Silent_p.S246S|STX16_ENST00000359617.4_Silent_p.S193S|STX16_ENST00000358029.4_Silent_p.S242S|STX16_ENST00000371132.4_Silent_p.S225S|STX16_ENST00000355957.5_Silent_p.S229S|STX16_ENST00000361770.5_Silent_p.S229S|STX16_ENST00000496003.1_Intron	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	246	t-SNARE coiled-coil homology.				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TTGTACAGTCCATTTCTGACC	0.478													18	101					0	0	0	0	T	57246299	C	T	57246299	2	4	153	1	0	0	0	0	0	0	0	1	15429	581	21	4		4	STX16	20	57246299	Silent	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	4019298	57246299	5779221	142	28034											
C20orf197	284756	broad.mit.edu	37	chr20	58645874	58645874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgcatttgggtattaaagGctctgcaaagttctgcacca	10	13	10	8	0	2	0	0	0	2	0	2	0	2	0	1	2	3	6	1	2	4	4			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:58645874G>A	ENST00000313426.1	+	4	598	c.292G>A	c.(292-294)Gct>Act	p.A98T		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	98										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			ggtattaaaggctctgcaaag	0.473													9	19					0	0	0	0	A	58645874	G	A	58645874	3	1	153	1	0	0	0	0	1	0	0	0	2122	1203	42	4	298	4	C20orf197	20	58645874	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	1399575	58645874	4379646	143	28035											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959819	45959819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgagggcgtgcaggagctgGtgcagcctgattggcagggg	7	6	20	8	2	0	1	0	1	0	0	0	3	0	2	1	6	4	4	1	6	0	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr21:45959819G>A	ENST00000400375.1	-	1	259	c.215C>T	c.(214-216)aCc>aTc	p.T72I	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	72	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGGAGCTGGTGCAGCCTGA	0.711													4	151					0	0	0	0	A	45959819	G	A	45959819	3	1	153	1	0	0	0	0	1	0	0	0	8557	1261	44	4	637	4	KRTAP10-1	21	45959819	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08		45959819	2170076	144	28036											
MCM3AP	8888	broad.mit.edu	37	chr21	47680808	47680808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacttaacaccagctctctCtcttgtttcaacctacaggg	9	13	5	14	0	4	0	2	0	2	0	6	0	4	0	2	1	4	2	2	1	3	4			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr21:47680808C>G	ENST00000397708.1	-	16	3734	c.3480G>C	c.(3478-3480)gaG>gaC	p.E1160D	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1160D			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1160					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCAGCTCTCTCTCTTGTTTCA	0.483													18	58					0	0	0	0	G	47680808	C	G	47680808	3	3	153	1	0	0	0	0	1	0	0	0	9457	912	32	2	2518	2	MCM3AP	21	47680808	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	1720989	47680808	449087	145	28037											
EIF3L	51386	broad.mit.edu	37	chr22	38247441	38247441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctacaggccagtcgtgtCtccagtgatgtcattgacca	9	10	11	11	1	2	2	1	2	1	0	4	3	2	2	3	1	2	1	3	1	1	2			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr22:38247441C>G	ENST00000406934.1	+	2	738	c.23C>G	c.(22-24)tCt>tGt	p.S8C	EIF3L_ENST00000412331.2_Silent_p.V79V|EIF3L_ENST00000476955.1_3'UTR|EIF3L_ENST00000381683.6_Silent_p.V79V			Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	0						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCAGTCGTGTCTCCAGTGATG	0.473													12	20					0	0	0	0	G	38247441	C	G	38247441	3	3	153	1	0	0	0	0	1	0	0	0	5060	900	32	2	247	2	EIF3L	22	38247441	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08		38247441	13057125	146	28038											
SBF1	6305	broad.mit.edu	37	chr22	50893798	50893798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaaagccctccagcgtgCggtagaaggggtctgagagc	9	5	17	10	3	1	2	0	1	1	2	2	4	2	2	2	4	4	1	2	4	3	1			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr22:50893798C>T	ENST00000380817.2	-	33	4592	c.4409G>A	c.(4408-4410)cGc>cAc	p.R1470H	SBF1_ENST00000348911.6_Missense_Mutation_p.R1445H|SBF1_ENST00000390679.3_Missense_Mutation_p.R1444H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1444	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCCAGCGTGCGGTAGAAGGG	0.682													3	49					0	0	0	0	T	50893798	C	T	50893798	3	4	153	1	0	0	0	0	1	0	0	0	13944	768	27	1	1308	1	SBF1	22	50893798	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	12646357	50893798	410768	147	28039											
TLR7	51284	broad.mit.edu	37	chrX	12904896	12904896	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaaacaatttaaaagactGaaagtcatagatctttcagt	17	14	5	5	0	3	3	2	1	1	2	3	3	3	3	0	0	1	0	0	0	7	6			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:12904896G>C	ENST00000380659.3	+	3	1408	c.1269G>C	c.(1267-1269)ctG>ctC	p.L423L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	423					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TTAAAAGACTGAAAGTCATAG	0.333													22	82					0	0	0	0	C	12904896	G	C	12904896	2	2	153	1	0	0	0	0	0	0	0	1	16050	1277	45	2		2	TLR7	23	12904896	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08		12904896	142365664	148	28040											
TLR7	51284	broad.mit.edu	37	chrX	12905259	12905259	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccaacctttagcagagctGagatatttggacttctccaa	11	13	7	10	0	1	2	0	1	1	2	3	4	2	3	3	1	3	2	3	1	4	6			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:12905259G>C	ENST00000380659.3	+	3	1771	c.1632G>C	c.(1630-1632)ctG>ctC	p.L544L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	544					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TAGCAGAGCTGAGATATTTGG	0.403													82	323					0	0	0	0	C	12905259	G	C	12905259	2	2	153	1	0	0	0	0	0	0	0	1	16050	1277	45	2		2	TLR7	23	12905259	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	363	12905259	142365301	149	28041											
DMD	1756	broad.mit.edu	37	chrX	33038269	33038269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttaccttagaaaattgtGcatttacccattttgtgaat	11	18	5	7	0	1	2	0	1	1	1	1	2	1	2	2	0	3	1	2	0	6	8			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:33038269G>T	ENST00000357033.4	-	2	286	c.80C>A	c.(79-81)gCa>gAa	p.A27E	DMD_ENST00000378677.2_Missense_Mutation_p.A23E|DMD_ENST00000288447.4_Missense_Mutation_p.A19E	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	27	Actin-binding.|CH 1.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGAAAATTGTGCATTTACCCA	0.259													6	22					2.0095e-06	2.06024e-06	1	0	T	33038269	G	T	33038269	3	4	153	1	0	0	0	0	1	0	0	0	4617	1319	46	4	11532	4	DMD	23	33038269	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	20133010	33038269	122232291	150	28042											
USP51	158880	broad.mit.edu	37	chrX	55514102	55514102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttatagggaatgtgaggaGttcggctcccagagtacata	12	10	12	7	1	0	2	0	1	0	1	2	4	1	4	1	3	1	3	1	3	5	5			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:55514102G>T	ENST00000500968.3	-	2	1353	c.1271C>A	c.(1270-1272)aCt>aAt	p.T424N	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	424					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						AATGTGAGGAGTTCGGCTCCC	0.448													15	53					1.15088e-07	1.19198e-07	1	0	T	55514102	G	T	55514102	3	4	153	1	0	0	0	0	1	0	0	0	17179	1029	36	4	868	4	USP51	23	55514102	Missense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	22475833	55514102	99756458	151	28043											
ERCC6L	54821	broad.mit.edu	37	chrX	71425945	71425945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccaaggattgcaatgaCgtaaaatctcatcatccttt	12	12	8	9	1	2	1	2	1	1	0	4	2	3	2	2	2	1	2	2	2	4	3	rs146534560	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:71425945C>T	ENST00000373657.1	-	3	2905	c.2303G>A	c.(2302-2304)cGt>cAt	p.R768H	ERCC6L_ENST00000334463.3_Missense_Mutation_p.R891H|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	891					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATTGCAATGACGTAAAATCTC	0.348													12	31					0	0	0	0	T	71425945	C	T	71425945	3	4	153	1	0	0	0	0	1	0	0	0	5256	536	19	1	1084	1	ERCC6L	23	71425945	Missense_Mutation	SNP	C	TCGA-CQ-7063-01A-11D-2394-08	15911843	71425945	83844615	152	28044											
ATRX	546	broad.mit.edu	37	chrX	76776328	76776328	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtttaacatcaagctcctGgctggcttgtctacttaatg	8	15	8	10	1	2	0	1	0	1	0	4	0	3	0	1	2	3	4	1	2	4	5			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:76776328G>A	ENST00000373344.5	-	34	7352	c.7138C>T	c.(7138-7140)Cag>Tag	p.Q2380*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q2342*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2380					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCAAGCTCCTGGCTGGCTTGT	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						22	64					0	0	0	0	A	76776328	G	A	76776328	4	1	153	1	0	0	0	0	0	1	0	0	1212	1357	47	4	348	4	ATRX	23	76776328	Nonsense_Mutation	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	5350383	76776328	78494232	153	28045											
ARHGEF6	9459	broad.mit.edu	37	chrX	135764979	135764979	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcaggacatttgaaaataAcataaggtaccgctcctctt	14	12	6	9	1	2	1	1	1	1	0	3	2	3	2	2	2	2	2	2	2	6	6			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:135764979A>C	ENST00000250617.6	-	13	2622	c.1417T>G	c.(1417-1419)Tta>Gta	p.L473V	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.L319V|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.L319V|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.L346V	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	473	PH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTTGAAAATAACATAAGGTAC	0.373													20	78					0	0	0	0	C	135764979	A	C	135764979	3	2	153	1	0	0	0	0	1	0	0	0	912	40	2	5	953	5	ARHGEF6	23	135764979	Missense_Mutation	SNP	A	TCGA-CQ-7063-01A-11D-2394-08	58988651	135764979	19505581	154	28046											
PLXNA3	55558	broad.mit.edu	37	chrX	153694586	153694586	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcagccgacttccgcacGcagtcggagcaggtctacag	8	8	12	13	4	2	0	1	0	1	0	4	2	3	1	2	2	3	4	2	2	1	3			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:153694586G>A	ENST00000369682.3	+	15	2947	c.2772G>A	c.(2770-2772)acG>acA	p.T924T		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	924	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTTCCGCACGCAGTCGGAGC	0.682													7	148					0	0	0	0	A	153694586	G	A	153694586	2	1	153	1	0	0	0	0	0	0	0	1	12193	1074	38	1		1	PLXNA3	23	153694586	Silent	SNP	G	TCGA-CQ-7063-01A-11D-2394-08	17929607	153694586	1575974	155	28047											
DHRS3	9249	broad.mit.edu	37	chr1	12638942	12638942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaggcacacgatgtggcCattctgcagctccagcatac	9	9	11	12	1	1	1	0	1	1	0	2	2	2	1	2	2	4	5	2	2	1	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:12638942C>T	ENST00000376223.2	-	4	885	c.502G>A	c.(502-504)Ggc>Agc	p.G168S		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	168					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	ACGATGTGGCCATTCTGCAGC	0.612													5	30					0	0	0	0	T	12638942	C	T	12638942	3	4	154	1	0	0	0	0	1	0	0	0	4528	594	21	4	418	4	DHRS3	1	12638942	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08		12638942	236611679	1	28048											
SLC9A1	6548	broad.mit.edu	37	chr1	27427083	27427083	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggtgactgcggggaagcCgggtcgatggtgatgacagg	7	7	20	7	4	0	3	0	3	0	0	2	5	0	4	1	6	2	0	1	6	1	0			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:27427083C>T	ENST00000263980.3	-	12	2738	c.2163G>A	c.(2161-2163)ccG>ccA	p.P721P	SLC9A1_ENST00000545949.1_Silent_p.P382P	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	721					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GCGGGGAAGCCGGGTCGATGG	0.617													20	325					0	0	0	0	T	27427083	C	T	27427083	2	4	154	1	0	0	0	0	0	0	0	1	14797	639	23	1		1	SLC9A1	1	27427083	Silent	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	14788141	27427083	221823538	2	28049											
ZZZ3	26009	broad.mit.edu	37	chr1	78098862	78098862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccattattatttcctttctGaattggcacaggctctggtc	7	16	7	11	0	2	1	0	1	2	0	4	1	3	1	2	3	0	2	2	3	3	5			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:78098862G>C	ENST00000370801.3	-	5	653	c.178C>G	c.(178-180)Cag>Gag	p.Q60E	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTTCCTTTCTGAATTGGCACA	0.403													27	112					0	0	0	0	C	78098862	G	C	78098862	3	2	154	1	0	0	0	0	1	0	0	0	18347	1299	45	2	2577	2	ZZZ3	1	78098862	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	50671779	78098862	171151759	3	28050											
CELSR2	1952	broad.mit.edu	37	chr1	109814076	109814076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggctgctggcactgctctCtgtcaacagcgacaccctcc	6	9	10	16	1	2	0	1	0	1	0	4	1	3	0	2	2	4	4	2	2	1	0			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:109814076C>T	ENST00000271332.3	+	27	7806	c.7745C>T	c.(7744-7746)tCt>tTt	p.S2582F	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2582					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCACTGCTCTCTGTCAACAGC	0.637													31	136					0	0	0	0	T	109814076	C	T	109814076	3	4	154	1	0	0	0	0	1	0	0	0	3251	913	32	2	7851	2	CELSR2	1	109814076	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	31715214	109814076	139436545	4	28051											
MSTO1	55154	broad.mit.edu	37	chr1	155717369	155717369	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggaagcaggtcggctGgaggcttttggccaagggga	8	6	20	7	1	0	0	0	0	0	0	1	3	0	3	1	9	1	4	1	9	2	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:155717369G>A	ENST00000452804.2	+	7	637	c.576G>A	c.(574-576)ctG>ctA	p.L192L	MSTO1_ENST00000538143.1_3'UTR			Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	192					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CAGGTCGGCTGGAGGCTTTTG	0.537													5	39					0	0	0	0	A	155717369	G	A	155717369	2	1	154	1	0	0	0	0	0	0	0	1	9964	1363	47	4		4	MSTO1	1	155717369	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	45903293	155717369	93533252	5	28052											
FCRL4	83417	broad.mit.edu	37	chr1	157557303	157557303	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtttacagaattcccctCtgtaggctgagagtctgtag	9	12	11	9	0	2	2	0	1	2	2	3	3	3	2	2	2	1	4	2	2	4	5			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:157557303C>A	ENST00000271532.1	-	5	745	c.610G>T	c.(610-612)Gag>Tag	p.E204*	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	204	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GAATTCCCCTCTGTAGGCTGA	0.478													25	111					7.92952e-12	9.02924e-12	1	0	A	157557303	C	A	157557303	4	1	154	1	0	0	0	0	0	1	0	0	5842	922	32	2	969	2	FCRL4	1	157557303	Nonsense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	1839934	157557303	91693318	6	28053											
F5	2153	broad.mit.edu	37	chr1	169529837	169529837	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcagccccgagttgaaatCctcgatcagattttcatggg	11	11	9	10	2	3	2	3	1	0	1	5	4	4	2	3	1	1	1	3	1	2	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:169529837C>A	ENST00000367796.3	-	4	742	c.541G>T	c.(541-543)Gat>Tat	p.D181Y	F5_ENST00000546081.1_Missense_Mutation_p.D44Y|F5_ENST00000367797.3_Missense_Mutation_p.D181Y			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	181	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAGTTGAAATCCTCGATCAGA	0.458													14	103					1.49906e-05	1.64685e-05	1	0	A	169529837	C	A	169529837	3	1	154	1	0	0	0	0	1	0	0	0	5386	855	30	2	6221	2	F5	1	169529837	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	11972534	169529837	79720784	7	28054											
TNR	7143	broad.mit.edu	37	chr1	175375526	175375526	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgtaaaggtgacctggctctCgtggtctgaggtctggccca	6	11	14	10	1	3	2	0	2	3	0	4	2	3	2	2	5	0	2	2	5	2	1	rs149339053		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:175375526C>G	ENST00000367674.1	-	3	1033	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	TNR_ENST00000263525.2_Missense_Mutation_p.E109Q	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	109					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E109K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCTGGCTCTCGTGGTCTGAG	0.587													15	105					0	0	0	0	G	175375526	C	G	175375526	3	3	154	1	0	0	0	0	1	0	0	0	16432	893	31	3	3835	3	TNR	1	175375526	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	5845689	175375526	73875095	8	28055											
IKBKE	9641	broad.mit.edu	37	chr1	206665080	206665080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcacacacggcaagaggatGaggtaacagcccctcctgag	12	5	12	12	1	1	3	1	2	0	1	2	4	2	4	3	3	2	2	3	3	2	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:206665080G>A	ENST00000367120.3	+	18	2206	c.1833G>A	c.(1831-1833)atG>atA	p.M611I	IKBKE_ENST00000537984.1_Missense_Mutation_p.M526I|IKBKE_ENST00000462698.1_3'UTR|C1orf147_ENST00000367119.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	611					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCAAGAGGATGAGGTAACAGC	0.582													13	63					0	0	0	0	A	206665080	G	A	206665080	3	1	154	1	0	0	0	0	1	0	0	0	7665	1290	45	2	1895	2	IKBKE	1	206665080	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	31289554	206665080	42585541	9	28056											
SPATA17	128153	broad.mit.edu	37	chr1	217842395	217842395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagcatattatactatgatGatgaatctctacaatgcaat	15	14	6	6	0	1	3	0	3	1	0	2	3	1	3	0	0	4	3	0	0	9	6			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:217842395G>A	ENST00000366933.4	+	4	316	c.261G>A	c.(259-261)atG>atA	p.M87I		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	87						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ATACTATGATGATGAATCTCT	0.318													10	88					0	0	0	0	A	217842395	G	A	217842395	3	1	154	1	0	0	0	0	1	0	0	0	15092	1290	45	2	275	2	SPATA17	1	217842395	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	11177315	217842395	31408226	10	28057											
DISP1	84976	broad.mit.edu	37	chr1	223177528	223177528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgttagagttccagagtaCctacctcttcacactggctt	8	13	9	11	0	2	2	1	0	1	2	3	2	3	2	3	2	2	4	3	2	3	6			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:223177528C>T	ENST00000284476.6	+	8	2953	c.2789C>T	c.(2788-2790)aCc>aTc	p.T930I		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	930					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTCCAGAGTACCTACCTCTTC	0.483													6	56					0	0	0	0	T	223177528	C	T	223177528	3	4	154	1	0	0	0	0	1	0	0	0	4576	507	18	4	2815	4	DISP1	1	223177528	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	5335133	223177528	26073093	11	28058											
WDR35	57539	broad.mit.edu	37	chr2	20145695	20145695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgctgtcccgtactgtccGttactcgagcatccaagtca	7	12	8	14	3	1	0	1	0	0	0	5	1	4	0	3	0	4	4	3	0	3	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:20145695G>A	ENST00000345530.3	-	17	1845	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	WDR35_ENST00000281405.4_Missense_Mutation_p.T566M|WDR35_ENST00000416055.2_Missense_Mutation_p.T142M	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	577										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTACTGTCCGTTACTCGAGC	0.398													40	62					0	0	0	0	A	20145695	G	A	20145695	3	1	154	1	0	0	0	0	1	0	0	0	17385	1145	40	1	1863	1	WDR35	2	20145695	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08		20145695	223053678	12	28059											
USP34	9736	broad.mit.edu	37	chr2	61566505	61566505	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgttgtttcccaagttttCaaggcaaccttcaatgaatc	10	14	6	11	0	2	1	2	1	0	0	4	1	3	1	3	1	1	4	3	1	5	5			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:61566505C>G	ENST00000398571.2	-	18	2801	c.2725G>C	c.(2725-2727)Gaa>Caa	p.E909Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	909					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCCAAGTTTTCAAGGCAACCT	0.348													4	32					0	0	0	0	G	61566505	C	G	61566505	3	3	154	1	0	0	0	0	1	0	0	0	17161	835	29	2	8167	2	USP34	2	61566505	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	41420810	61566505	181632868	13	28060											
XIRP2	129446	broad.mit.edu	37	chr2	168108057	168108057	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatctttaggaaacacgagTtttacagacttttcttgcaa	13	14	6	8	1	2	1	0	0	2	1	2	3	2	2	0	1	3	2	0	1	4	7			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:168108057T>A	ENST00000409195.1	+	9	10244	c.10155T>A	c.(10153-10155)agT>agA	p.S3385R	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3385R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S3163R|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3210					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						GAAACACGAGTTTTACAGACT	0.383													18	83					0	0	0	0	A	168108057	T	A	168108057	3	1	154	1	0	0	0	0	1	0	0	0	17526	1722	60	5	10185	5	XIRP2	2	168108057	Missense_Mutation	SNP	T	TCGA-CQ-7064-01A-11D-2394-08	106541552	168108057	75091316	14	28061											
HOXD10	3236	broad.mit.edu	37	chr2	176981808	176981808	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaagtagacagttggacaGatccgaacagatcttgtcga	13	9	10	9	2	2	3	1	0	1	3	4	6	3	4	1	1	1	2	1	1	3	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:176981808G>C	ENST00000249501.4	+	1	502	c.247G>C	c.(247-249)Gat>Cat	p.D83H	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	83						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGTTGGACAGATCCGAACAG	0.453													8	66					0	0	0	0	C	176981808	G	C	176981808	3	2	154	1	0	0	0	0	1	0	0	0	7369	942	33	2	249	2	HOXD10	2	176981808	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	8873751	176981808	66217565	15	28062											
TTN	7273	broad.mit.edu	37	chr2	179603911	179603911	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgaagttgctgtttttccGctgtcattcaaggcctcaca	7	14	9	11	1	3	1	3	1	0	0	4	1	4	1	2	1	1	5	2	1	2	4			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:179603911G>A	ENST00000589042.1	-	48	14273	c.14049C>T	c.(14047-14049)agC>agT	p.S4683S	TTN_ENST00000342175.6_Silent_p.S4512S|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Silent_p.S4366S|TTN_ENST00000359218.5_Silent_p.S4445S|TTN_ENST00000460472.2_Silent_p.S4320S|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4366	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S4320S(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)			CTGTTTTTCCGCTGTCATTCA	0.363													3	10					0	0	0	0	A	179603911	G	A	179603911	2	1	154	1	0	0	0	0	0	0	0	1	16831	1078	38	1		1	TTN	2	179603911	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	2622103	179603911	63595462	16	28063											
SP140	11262	broad.mit.edu	37	chr2	231149061	231149061	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttattctctttggtttgaagGaaaaaagagggggcatggct	11	13	13	4	0	1	2	0	1	1	1	2	3	1	3	0	5	0	3	0	5	5	4			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:231149061G>C	ENST00000392045.3	+	16	1613	c.1498_splice	c.e16-1	p.R500_splice	SP140_ENST00000486687.2_Splice_Site_p.R424_splice|SP140_ENST00000420434.3_Splice_Site_p.R473_splice|SP140_ENST00000350136.5_Splice_Site_p.R369_splice|SP140_ENST00000417495.3_Splice_Site_p.R386_splice|SP140_ENST00000343805.6_Splice_Site_p.R440_splice	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	500					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGTTTGAAGGAAAAAAGAGG	0.348													7	20					0	0	0	0	C	231149061	G	C	231149061	5	2	154	1	0	0	0	0	0	0	1	0	15050	1188	41	2	1678	2	SP140	2	231149061	Splice_Site	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	51545150	231149061	12050312	17	28064											
KCNH8	131096	broad.mit.edu	37	chr3	19295145	19295145	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctccttgtttttctataGatagcaacttcatccttgcc	7	18	4	12	0	3	1	1	0	2	1	5	1	4	1	3	0	3	2	3	0	4	9			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:19295145G>C	ENST00000328405.2	+	2	342		c.e2-1			NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8							integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTTTTCTATAGATAGCAACTT	0.428													25	77					0	0	0	0	C	19295145	G	C	19295145	5	2	154	1	0	0	0	0	0	0	1	0	8091	956	33	2	82	2	KCNH8	3	19295145	Splice_Site	SNP	G	TCGA-CQ-7064-01A-11D-2394-08		19295145	178727285	18	28065											
CYP8B1	1582	broad.mit.edu	37	chr3	42916886	42916886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaggctgtccagcatggtCtcattaagatccttcaagcc	10	10	9	12	0	2	1	2	0	1	1	5	2	4	1	3	2	2	2	3	2	2	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:42916886C>T	ENST00000316161.4	-	1	747	c.423G>A	c.(421-423)gaG>gaA	p.E141E	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.E141E|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	141					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)		CCAGCATGGTCTCATTAAGAT	0.512													13	58					0	0	0	0	T	42916886	C	T	42916886	2	4	154	1	0	0	0	0	0	0	0	1	4230	912	32	2		2	CYP8B1	3	42916886	Silent	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	23621741	42916886	155105544	19	28066											
KIF15	56992	broad.mit.edu	37	chr3	44846575	44846575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgtttgtttgcaaacactGagaagttaaaagcacaactc	15	11	7	8	0	0	1	0	1	0	1	1	2	0	1	0	0	4	5	0	0	5	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:44846575G>A	ENST00000326047.4	+	15	1893	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	KIF15_ENST00000425755.1_Missense_Mutation_p.E217K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	582					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TGCAAACACTGAGAAGTTAAA	0.323													10	32					0	0	0	0	A	44846575	G	A	44846575	3	1	154	1	0	0	0	0	1	0	0	0	8328	1291	45	2	1802	2	KIF15	3	44846575	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	1929689	44846575	153175855	20	28067											
CCDC36	339834	broad.mit.edu	37	chr3	49282283	49282283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacagggtttcagatgagagGatgggtatatagggttagtc	11	11	15	4	0	1	2	1	1	0	2	2	4	1	3	0	4	0	3	0	4	4	5			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:49282283G>A	ENST00000366429.2	+	5	679	c.600G>A	c.(598-600)agG>agA	p.R200R	CCDC36_ENST00000296449.5_Intron|CCDC36_ENST00000451634.2_Silent_p.R190R|CCDC36_ENST00000438782.1_Intron|CCDC36_ENST00000452691.2_Intron			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	0										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CAGATGAGAGGATGGGTATAT	0.507													3	7					0	0	0	0	A	49282283	G	A	49282283	2	1	154	1	0	0	0	0	0	0	0	1	2834	1189	41	2		2	CCDC36	3	49282283	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	4435708	49282283	148740147	21	28068											
ADCY5	111	broad.mit.edu	37	chr3	123038541	123038541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcttctctaagtcaggctCcctgaaggtcaggaggaact	9	11	10	11	0	4	1	2	1	2	0	6	3	5	3	1	4	1	1	1	4	3	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:123038541C>T	ENST00000462833.1	-	10	3448	c.2236G>A	c.(2236-2238)Gag>Aag	p.E746K	ADCY5_ENST00000309879.5_Missense_Mutation_p.E396K|ADCY5_ENST00000491190.1_Missense_Mutation_p.E379K	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	746					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGTCAGGCTCCCTGAAGGTC	0.582													9	25					0	0	0	0	T	123038541	C	T	123038541	3	4	154	1	0	0	0	0	1	0	0	0	297	864	30	2	1597	2	ADCY5	3	123038541	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	73756258	123038541	74983889	22	28069											
PLXNA1	5361	broad.mit.edu	37	chr3	126741158	126741158	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaagaacctggagagcaaGaaccaccccaagctgctact	15	4	10	12	0	0	4	0	0	0	4	0	6	0	4	4	1	6	3	4	1	6	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:126741158G>C	ENST00000251772.4	+	21	4269	c.4200G>C	c.(4198-4200)aaG>aaC	p.K1400N	PLXNA1_ENST00000393409.2_Missense_Mutation_p.K1423N			Q9UIW2	PLXA1_HUMAN	plexin A1	1423					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGGAGAGCAAGAACCACCCCA	0.632													15	54					0	0	0	0	C	126741158	G	C	126741158	3	2	154	1	0	0	0	0	1	0	0	0	12191	933	33	2	4351	2	PLXNA1	3	126741158	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	3702617	126741158	71281272	23	28070											
DHX36	170506	broad.mit.edu	37	chr3	154002767	154002767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtcaattcttcttgtttatCcaaagcgttctgtaaaggaa	11	16	7	7	1	4	0	1	0	3	0	5	1	5	1	1	1	1	3	1	1	6	7			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:154002767C>T	ENST00000496811.1	-	18	2121	c.2041G>A	c.(2041-2043)Gat>Aat	p.D681N	DHX36_ENST00000308361.6_Missense_Mutation_p.D681N|DHX36_ENST00000329463.5_Missense_Mutation_p.D667N|DHX36_ENST00000544526.1_Missense_Mutation_p.D667N	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	681						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCTTGTTTATCCAAAGCGTTC	0.378													18	57					0	0	0	0	T	154002767	C	T	154002767	3	4	154	1	0	0	0	0	1	0	0	0	4546	855	30	2	1017	2	DHX36	3	154002767	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	27261609	154002767	44019663	24	28071											
CHRD	8646	broad.mit.edu	37	chr3	184101126	184101126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtgtcctttgtggggctGatgccctgatcccagtccag	7	11	12	11	0	0	2	0	2	0	0	3	2	3	2	4	2	1	1	4	2	1	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:184101126G>A	ENST00000204604.1	+	11	1486	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	CHRD_ENST00000450923.1_Missense_Mutation_p.D414N|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.D414N|CHRD_ENST00000545352.1_Missense_Mutation_p.D44N	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	414	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGTGGGGCTGATGCCCTGAT	0.607													22	126					0	0	0	0	A	184101126	G	A	184101126	3	1	154	1	0	0	0	0	1	0	0	0	3401	1290	45	2	1282	2	CHRD	3	184101126	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	30098359	184101126	13921304	25	28072											
CLDN16	10686	broad.mit.edu	37	chr3	190106151	190106151	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcaatacatcgcttgcttCtttgcctttttctctgctgg	4	19	6	12	1	3	0	1	0	2	0	5	0	3	0	1	1	4	3	1	1	2	7			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:190106151C>G	ENST00000264734.2	+	1	491	c.243C>G	c.(241-243)ttC>ttG	p.F81L	CLDN16_ENST00000456423.1_Missense_Mutation_p.F81L|CLDN16_ENST00000468220.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	81					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TCGCTTGCTTCTTTGCCTTTT	0.517													25	196					0	0	0	0	G	190106151	C	G	190106151	3	3	154	1	0	0	0	0	1	0	0	0	3507	912	32	2	245	2	CLDN16	3	190106151	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	6005025	190106151	7916279	26	28073											
LRRC15	131578	broad.mit.edu	37	chr3	194080671	194080671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctgcagggagatgttctGcaggttggccaacatgcgga	8	10	15	8	1	2	1	0	0	2	1	2	3	2	2	1	4	4	5	1	4	1	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:194080671G>T	ENST00000347624.3	-	2	1187	c.1102C>A	c.(1102-1104)Cag>Aag	p.Q368K	LRRC15_ENST00000439944.2_Missense_Mutation_p.Q374K|LRRC15_ENST00000428839.1_Missense_Mutation_p.Q374K	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	368						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GAGATGTTCTGCAGGTTGGCC	0.592													21	65					0.00188189	0.00199711	1	0	T	194080671	G	T	194080671	3	4	154	1	0	0	0	0	1	0	0	0	9034	1328	46	4	647	4	LRRC15	3	194080671	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	3974520	194080671	3941759	27	28074											
KCTD8	386617	broad.mit.edu	37	chr4	44450114	44450114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgggcgacagcagcttgaCcaagtcggtgagctggaaat	10	8	14	9	2	0	2	0	2	0	0	1	4	0	3	1	3	3	3	1	3	2	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:44450114C>A	ENST00000360029.3	-	1	710	c.427G>T	c.(427-429)Gtc>Ttc	p.V143F	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	143						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						AGCAGCTTGACCAAGTCGGTG	0.627										HNSCC(17;0.042)			7	34					0.000157383	0.000169323	1	0	A	44450114	C	A	44450114	3	1	154	1	0	0	0	0	1	0	0	0	8168	507	18	4	1002	4	KCTD8	4	44450114	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08		44450114	146704162	28	28075											
UGT2B11	10720	broad.mit.edu	37	chr4	70070367	70070367	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctctggtttttggatgaCctaggattggatgaatttta	10	16	11	4	0	1	2	0	2	1	0	1	5	1	5	1	4	1	2	1	4	4	6	rs146890806	byFrequency	TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:70070367C>T	ENST00000446444.1	-	5	1099	c.1090_splice	c.e5-1	p.G364_splice	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	364					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTTGGATGACCTAGGATTGG	0.373													4	82					0	0	0	0	T	70070367	C	T	70070367	5	4	154	1	0	0	0	0	0	0	1	0	17053	521	18	4	506	4	UGT2B11	4	70070367	Splice_Site	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	25620253	70070367	121083909	29	28076											
SLC4A4	8671	broad.mit.edu	37	chr4	72363343	72363343	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatgtcttttatcctcttCttgggaacctacacctcttc	6	17	4	14	0	5	0	1	0	4	0	7	1	6	1	3	1	2	0	3	1	3	6			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:72363343C>T	ENST00000340595.3	+	13	2164	c.1968C>T	c.(1966-1968)ttC>ttT	p.F656F	SLC4A4_ENST00000425175.1_Silent_p.F700F|SLC4A4_ENST00000351898.6_Silent_p.F700F|SLC4A4_ENST00000264485.5_Silent_p.F700F	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	700						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTATCCTCTTCTTGGGAACCT	0.378													11	46					0	0	0	0	T	72363343	C	T	72363343	2	4	154	1	0	0	0	0	0	0	0	1	14744	912	32	2		2	SLC4A4	4	72363343	Silent	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	2292976	72363343	118790933	30	28077											
NFKB1	4790	broad.mit.edu	37	chr4	103533614	103533614	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatgaaacagctggctgaaGatgtgaagctgcagctgtat	13	9	12	7	0	0	4	0	3	0	1	0	4	0	4	0	1	5	6	0	1	4	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:103533614G>C	ENST00000226574.4	+	22	2910	c.2443G>C	c.(2443-2445)Gat>Cat	p.D815H	NFKB1_ENST00000394820.4_Missense_Mutation_p.D814H|NFKB1_ENST00000505458.1_Missense_Mutation_p.D814H|NFKB1_ENST00000600343.1_Missense_Mutation_p.D634H	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	814	Death.|Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GCTGGCTGAAGATGTGAAGCT	0.448													12	51					0	0	0	0	C	103533614	G	C	103533614	3	2	154	1	0	0	0	0	1	0	0	0	10445	942	33	2	2525	2	NFKB1	4	103533614	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	31170271	103533614	87620662	31	28078											
LARP7	51574	broad.mit.edu	37	chr4	113568609	113568609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaggaagagaagcagctctGaagatgcagaatccctagct	15	6	12	8	0	1	5	0	1	1	4	2	7	2	6	1	1	4	4	1	1	5	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:113568609G>A	ENST00000509061.1	+	9	1225	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	MIR302B_ENST00000505215.1_RNA|LARP7_ENST00000344442.5_Missense_Mutation_p.E301K|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.E301K	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	301	Lys-rich.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AAGCAGCTCTGAAGATGCAGA	0.413													14	61					0	0	0	0	A	113568609	G	A	113568609	3	1	154	1	0	0	0	0	1	0	0	0	8686	1291	45	2	923	2	LARP7	4	113568609	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	10034995	113568609	77585667	32	28079											
PRSS48	345062	broad.mit.edu	37	chr4	152203467	152203467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcaagtcaccttcacttCtgccatcctgcctatttgct	6	15	4	16	0	4	0	3	0	2	0	6	0	5	0	4	0	3	1	4	0	2	4			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:152203467C>T	ENST00000455694.2	+	3	385	c.383C>T	c.(382-384)tCt>tTt	p.S128F	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	128	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						ACCTTCACTTCTGCCATCCTG	0.483													20	89					0	0	0	0	T	152203467	C	T	152203467	3	4	154	1	0	0	0	0	1	0	0	0	12709	913	32	2	393	2	PRSS48	4	152203467	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	38634858	152203467	38950809	33	28080											
FAT1	2195	broad.mit.edu	37	chr4	187549314	187549314	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccaaaagtacctgactCgatcgagtacagcacttcag	12	8	9	12	2	1	1	1	1	0	0	4	3	2	1	2	1	3	4	2	1	4	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:187549314C>A	ENST00000441802.2	-	9	5013	c.4804G>T	c.(4804-4806)Gag>Tag	p.E1602*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1602	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTACCTGACTCGATCGAGTAC	0.448										HNSCC(5;0.00058)			3	9					0.004672	0.0048267	1	0	A	187549314	C	A	187549314	4	1	154	1	0	0	0	0	0	1	0	0	5734	893	31	3	9038	3	FAT1	4	187549314	Nonsense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	35345847	187549314	3604962	34	28081											
EGFLAM	133584	broad.mit.edu	37	chr5	38418304	38418304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcgctgtgaatgggaggaGaattgacatgaggccctggc	9	8	16	8	1	0	4	0	3	0	1	1	6	0	5	1	4	0	2	1	4	2	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:38418304G>A	ENST00000322350.5	+	12	1977	c.1631G>A	c.(1630-1632)aGa>aAa	p.R544K	EGFLAM_ENST00000336740.6_Missense_Mutation_p.R310K|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Missense_Mutation_p.R544K	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	544	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AATGGGAGGAGAATTGACATG	0.562													23	47					0	0	0	0	A	38418304	G	A	38418304	3	1	154	1	0	0	0	0	1	0	0	0	5002	942	33	2	1691	2	EGFLAM	5	38418304	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08		38418304	142496956	35	28082											
C6	729	broad.mit.edu	37	chr5	41142954	41142954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacactttccaggatgcagTatttccatcttcctgtttgc	9	15	6	11	0	1	0	0	0	1	0	4	1	4	1	3	1	3	3	3	1	2	5			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:41142954T>C	ENST00000263413.3	-	18	3042	c.2778A>G	c.(2776-2778)atA>atG	p.I926M	C6_ENST00000337836.5_Missense_Mutation_p.I926M	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	926	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAGGATGCAGTATTTCCATCT	0.413													24	44					0	0	0	0	C	41142954	T	C	41142954	3	2	154	1	0	0	0	0	1	0	0	0	2336	1628	57	5	30	5	C6	5	41142954	Missense_Mutation	SNP	T	TCGA-CQ-7064-01A-11D-2394-08	2724650	41142954	139772306	36	28083											
HTR1A	3350	broad.mit.edu	37	chr5	63256789	63256789	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgactctccattcacaCtcttcttgggctgcggggcg	4	11	10	16	3	4	0	1	0	3	0	6	1	5	0	3	3	1	1	3	3	0	3	rs147211774		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:63256789C>G	ENST00000323865.3	-	1	991	c.758G>C	c.(757-759)aGt>aCt	p.S253T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	253					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCCATTCACACTCTTCTTGGG	0.647													17	122					0	0	0	0	G	63256789	C	G	63256789	3	3	154	1	0	0	0	0	1	0	0	0	7489	565	20	4	513	4	HTR1A	5	63256789	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	22113835	63256789	117658471	37	28084											
SLC25A2	83884	broad.mit.edu	37	chr5	140683010	140683010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgctatcttccctgacatCtccatttcatacatggtctg	7	17	5	12	0	4	1	1	1	3	0	6	1	5	1	2	1	2	1	2	1	2	5			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:140683010C>G	ENST00000239451.4	-	1	602	c.423G>C	c.(421-423)gaG>gaC	p.E141D		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	141					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TCCCTGACATCTCCATTTCAT	0.517													9	122					0	0	0	0	G	140683010	C	G	140683010	3	3	154	1	0	0	0	0	1	0	0	0	14570	912	32	2	486	2	SLC25A2	5	140683010	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	77426221	140683010	40232250	38	28085											
SPINK5	11005	broad.mit.edu	37	chr5	147470777	147470777	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgaaactagaattcgaCgaaatgctgaaaaggtaaaa	19	7	11	4	2	0	3	0	2	0	1	1	5	0	3	0	2	2	2	0	2	8	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:147470777C>A	ENST00000359874.3	+	8	725	c.652C>A	c.(652-654)Cga>Aga	p.R218R	SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000256084.7_Silent_p.R218R|SPINK5_ENST00000398454.1_Silent_p.R218R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	218					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAATTCGACGAAATGCTGA	0.333													7	22					0.00448238	0.00466168	1	0	A	147470777	C	A	147470777	2	1	154	1	0	0	0	0	0	0	0	1	15152	528	19	3		3	SPINK5	5	147470777	Silent	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	6787767	147470777	33444483	39	28086											
STK10	6793	broad.mit.edu	37	chr5	171491742	171491742	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagaagctgctttttctgCgtgtgctcctccatcttctg	6	15	8	12	1	3	1	0	0	3	1	5	1	5	1	2	0	4	3	2	0	2	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:171491742C>T	ENST00000176763.5	-	13	2407	c.2064G>A	c.(2062-2064)acG>acA	p.T688T		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	688							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTTTTTCTGCGTGTGCTCCT	0.602													6	76					0	0	0	0	T	171491742	C	T	171491742	2	4	154	1	0	0	0	0	0	0	0	1	15376	755	27	1		1	STK10	5	171491742	Silent	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	24020965	171491742	9423518	40	28087											
COL23A1	91522	broad.mit.edu	37	chr5	177733887	177733887	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggactcaccagggtcgcctCttctcccaggcttgccgcgc	4	8	12	17	3	3	0	1	0	2	0	5	1	3	1	4	3	1	1	4	3	0	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:177733887C>G	ENST00000390654.3	-	3	752	c.395G>C	c.(394-396)aGa>aCa	p.R132T	COL23A1_ENST00000407622.1_Missense_Mutation_p.R105T	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	132	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		AGGGTCGCCTCTTCTCCCAGG	0.617													4	16					0	0	0	0	G	177733887	C	G	177733887	3	3	154	1	0	0	0	0	1	0	0	0	3712	913	32	2	1335	2	COL23A1	5	177733887	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	6242145	177733887	3181373	41	28088											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056263	26056263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcttcttggctgccccaaCtggcttcttaggtttggttc	3	15	12	11	0	2	0	0	0	2	0	3	0	2	0	2	5	2	5	2	5	2	6	rs139623473		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:26056263C>A	ENST00000343677.2	-	1	436	c.394G>T	c.(394-396)Gtt>Ttt	p.V132F		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	132					nucleosome assembly	nucleosome|nucleus	DNA binding	p.V132L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCTGCCCCAACTGGCTTCTTA	0.587													21	117					3.83957e-06	4.24803e-06	1	0	A	26056263	C	A	26056263	3	1	154	1	0	0	0	0	1	0	0	0	7174	565	20	4	251	4	HIST1H1C	6	26056263	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08		26056263	145058804	42	28089											
ABT1	29777	broad.mit.edu	37	chr6	26597435	26597435	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatggcgaggtcggacgcgtCttctttcaggctgagggtaa	7	11	15	8	4	3	1	1	1	2	0	4	3	3	2	0	5	0	2	0	5	2	4			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:26597435C>G	ENST00000274849.1	+	1	256	c.225C>G	c.(223-225)gtC>gtG	p.V75V		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	75	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						TCGGACGCGTCTTCTTTCAGG	0.627													17	57					0	0	0	0	G	26597435	C	G	26597435	2	3	154	1	0	0	0	0	0	0	0	1	101	900	32	2		2	ABT1	6	26597435	Silent	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	541172	26597435	144517632	43	28090											
LCA5	167691	broad.mit.edu	37	chr6	80223150	80223150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctttgagtgctgtaatctCattgttatgacgaaatataa	12	17	7	5	1	2	2	1	2	2	0	3	3	2	2	0	0	1	3	0	0	5	7			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:80223150C>T	ENST00000392959.1	-	4	1110	c.499G>A	c.(499-501)Gag>Aag	p.E167K	LCA5_ENST00000369846.4_Missense_Mutation_p.E167K|LCA5_ENST00000467898.2_Missense_Mutation_p.E167K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	167					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GCTGTAATCTCATTGTTATGA	0.353													10	49					0	0	0	0	T	80223150	C	T	80223150	3	4	154	1	0	0	0	0	1	0	0	0	8709	835	29	2	1618	2	LCA5	6	80223150	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	53625715	80223150	90891917	44	28091											
BEND3	57673	broad.mit.edu	37	chr6	107390514	107390514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagggtccagacgcggtcGtttttggcgcgtgggtagag	5	10	17	9	5	0	2	0	0	0	2	3	2	2	2	2	4	0	2	2	4	1	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:107390514G>A	ENST00000429433.2	-	5	2530	c.1881C>T	c.(1879-1881)aaC>aaT	p.N627N	BEND3_ENST00000369042.1_Silent_p.N627N	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	627	BEN 3.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGACGCGGTCGTTTTTGGCGC	0.647													12	49					0	0	0	0	A	107390514	G	A	107390514	2	1	154	1	0	0	0	0	0	0	0	1	1403	1136	40	1		1	BEND3	6	107390514	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	27167364	107390514	63724553	45	28092											
GPR6	2830	broad.mit.edu	37	chr6	110300831	110300831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctacctgtccctgtataaCgcgctcacctattactcgcg	7	11	7	16	5	1	0	1	0	0	0	3	0	2	0	3	0	3	3	3	0	5	5			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:110300831C>T	ENST00000414000.2	+	3	800	c.561C>T	c.(559-561)aaC>aaT	p.N187N	GPR6_ENST00000275169.3_Silent_p.N172N			P46095	GPR6_HUMAN	G protein-coupled receptor 6	172						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CCCTGTATAACGCGCTCACCT	0.657													22	93					0	0	0	0	T	110300831	C	T	110300831	2	4	154	1	0	0	0	0	0	0	0	1	6750	535	19	1		1	GPR6	6	110300831	Silent	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	2910317	110300831	60814236	46	28093											
ROS1	6098	broad.mit.edu	37	chr6	117724426	117724426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcttgaccacataggaCggtctggacacagtctagat	11	8	13	9	1	2	2	0	1	2	1	2	4	2	4	1	5	0	1	1	5	2	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:117724426C>T	ENST00000368508.3	-	6	651	c.453G>A	c.(451-453)ccG>ccA	p.P151P	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.P160P	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	151	Fibronectin type-III 1.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCACATAGGACGGTCTGGACA	0.473			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								7	30					0	0	0	0	T	117724426	C	T	117724426	2	4	154	1	0	0	0	0	0	0	0	1	13616	523	19	1		1	ROS1	6	117724426	Silent	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	7423595	117724426	53390641	47	28094											
GRM1	2911	broad.mit.edu	37	chr6	146480607	146480607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctttgaccgactcttgcGcaaactccgagagaggcttc	9	9	11	12	3	1	2	0	1	1	1	3	6	2	2	2	1	3	3	2	1	1	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:146480607G>A	ENST00000392299.2	+	3	1294	c.824G>A	c.(823-825)cGc>cAc	p.R275H	GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000282753.1_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	275					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R275H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGACTCTTGCGCAAACTCCGA	0.577													4	81					0	0	0	0	A	146480607	G	A	146480607	3	1	154	1	0	0	0	0	1	0	0	0	6846	1087	38	1	830	1	GRM1	6	146480607	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	28756181	146480607	24634460	48	28095											
IGF2R	3482	broad.mit.edu	37	chr6	160464220	160464220	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggatggcagtcagacGgaaacagagaagaagcattt	14	7	14	6	1	1	3	1	0	0	3	1	6	1	5	0	3	2	3	0	3	3	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:160464220G>A	ENST00000356956.1	+	12	1669	c.1521G>A	c.(1519-1521)acG>acA	p.T507T		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	507					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCAGTCAGACGGAAACAGAGA	0.468													16	103					0	0	0	0	A	160464220	G	A	160464220	2	1	154	1	0	0	0	0	0	0	0	1	7629	1103	39	1		1	IGF2R	6	160464220	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	13983613	160464220	10650847	49	28096											
ETV1	2115	broad.mit.edu	37	chr7	13971306	13971306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcgttggtacataggaCgtccttcccttggcatcgtc	5	13	11	12	3	1	0	0	0	1	0	5	1	3	1	2	4	1	3	2	4	2	5			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr7:13971306C>T	ENST00000343495.5	-	8	1307	c.569G>A	c.(568-570)cGt>cAt	p.R190H	ETV1_ENST00000430479.1_Missense_Mutation_p.R208H|ETV1_ENST00000242066.5_Missense_Mutation_p.R190H|ETV1_ENST00000420159.2_Missense_Mutation_p.R150H|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405358.4_Missense_Mutation_p.R222H|ETV1_ENST00000399357.3_Missense_Mutation_p.R105H|ETV1_ENST00000405192.2_Missense_Mutation_p.R208H|ETV1_ENST00000405218.2_Missense_Mutation_p.R208H|ETV1_ENST00000403685.1_Missense_Mutation_p.R190H|ETV1_ENST00000403527.1_Missense_Mutation_p.R168H			P50549	ETV1_HUMAN	ets variant 1	208					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTACATAGGACGTCCTTCCCT	0.502			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								7	35					0	0	0	0	T	13971306	C	T	13971306	3	4	154	1	0	0	0	0	1	0	0	0	5315	536	19	1	834	1	ETV1	7	13971306	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08		13971306	145167357	50	28097											
NOD1	10392	broad.mit.edu	37	chr7	30491745	30491745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcctgttcagatggacctCagtgaccaggaggaagacat	12	8	11	10	0	2	3	2	1	0	2	3	6	3	6	3	3	0	1	3	3	1	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr7:30491745C>T	ENST00000222823.4	-	6	1813	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	430	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AGATGGACCTCAGTGACCAGG	0.622													22	90					0	0	0	0	T	30491745	C	T	30491745	3	4	154	1	0	0	0	0	1	0	0	0	10586	835	29	2	1609	2	NOD1	7	30491745	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	16520439	30491745	128646918	51	28098											
ABCB1	5243	broad.mit.edu	37	chr7	87150144	87150144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgttcaaacttctgctcctGagtcaaagaaacaacggttc	13	11	7	10	1	3	2	2	1	1	1	5	2	4	2	1	1	4	3	1	1	4	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr7:87150144G>C	ENST00000265724.3	-	23	3151	c.2734C>G	c.(2734-2736)Cag>Gag	p.Q912E	ABCB1_ENST00000543898.1_Missense_Mutation_p.Q848E|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	912	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTCTGCTCCTGAGTCAAAGAA	0.423													9	48					0	0	0	0	C	87150144	G	C	87150144	3	2	154	1	0	0	0	0	1	0	0	0	40	1299	45	2	1136	2	ABCB1	7	87150144	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	56658399	87150144	71988519	52	28099											
SERPINE1	5054	broad.mit.edu	37	chr7	100771697	100771697	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagatgtctccagccctcaCctgcctagtcctgggcctgg	5	9	11	16	0	2	1	1	0	1	1	4	1	3	1	6	2	2	1	6	2	1	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr7:100771697C>G	ENST00000223095.4	+	2	180	c.23C>G	c.(22-24)aCc>aGc	p.T8S	SERPINE1_ENST00000445463.2_Missense_Mutation_p.T8S	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	8					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CCAGCCCTCACCTGCCTAGTC	0.617													15	75					0	0	0	0	G	100771697	C	G	100771697	3	3	154	1	0	0	0	0	1	0	0	0	14198	507	18	4	25	4	SERPINE1	7	100771697	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	13621553	100771697	58366966	53	28100											
C8orf74	203076	broad.mit.edu	37	chr8	10532168	10532168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgcagagaccacaaggtCgggagcgcctgcggaggctt	8	5	15	13	3	0	1	0	0	0	1	1	4	0	3	3	4	3	2	3	4	1	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:10532168C>T	ENST00000304519.5	+	2	90	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W	RP1L1_ENST00000329335.3_Intron|C8orf74_ENST00000524025.1_3'UTR	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	21										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACCACAAGGTCGGGAGCGCCT	0.572													6	10					0	0	0	0	T	10532168	C	T	10532168	3	4	154	1	0	0	0	0	1	0	0	0	2461	875	31	1	67	1	C8orf74	8	10532168	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08		10532168	135831854	54	28101											
PXDNL	137902	broad.mit.edu	37	chr8	52321297	52321297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcggccagagccagatgctCgttggcccggtggtccccgg	4	6	17	14	4	0	2	0	0	0	2	2	2	1	2	5	6	2	2	5	6	0	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:52321297C>T	ENST00000356297.4	-	17	2987	c.2887G>A	c.(2887-2889)Gag>Aag	p.E963K	PXDNL_ENST00000543296.1_Missense_Mutation_p.E963K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	963					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCCAGATGCTCGTTGGCCCGG	0.652													7	14					0	0	0	0	T	52321297	C	T	52321297	3	4	154	1	0	0	0	0	1	0	0	0	12930	893	31	1	1532	1	PXDNL	8	52321297	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	41789129	52321297	94042725	55	28102											
XKR4	114786	broad.mit.edu	37	chr8	56015684	56015684	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggctcgtccttccacgccGcaaaggcaagcatctaacgc	10	6	10	15	4	1	0	0	0	1	0	4	1	3	0	3	2	2	4	3	2	3	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:56015684G>A	ENST00000327381.5	+	1	736	c.636G>A	c.(634-636)ccG>ccA	p.P212P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	212						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTTCCACGCCGCAAAGGCAAG	0.682													4	71					0	0	0	0	A	56015684	G	A	56015684	2	1	154	1	0	0	0	0	0	0	0	1	17529	1074	38	1		1	XKR4	8	56015684	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	3694387	56015684	90348338	56	28103											
YTHDF3	253943	broad.mit.edu	37	chr8	64099415	64099415	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attggaacttgggatgaaaaAgggtcagtggtaaaggctcc	13	9	14	5	0	1	1	1	1	0	0	2	3	2	3	1	5	1	2	1	5	5	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:64099415A>T	ENST00000539294.1	+	4	1159	c.843A>T	c.(841-843)aaA>aaT	p.K281N	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.K92N|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	282												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GGGATGAAAAAGGGTCAGTGG	0.463													18	61					0	0	0	0	T	64099415	A	T	64099415	3	4	154	1	0	0	0	0	1	0	0	0	17596	72	3	5	859	5	YTHDF3	8	64099415	Missense_Mutation	SNP	A	TCGA-CQ-7064-01A-11D-2394-08	8083731	64099415	82264607	57	28104											
UBR5	51366	broad.mit.edu	37	chr8	103354904	103354904	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagtctctctctaagggaaGaaggagaactggtatgcaat	14	9	12	6	0	2	3	0	0	2	3	4	5	2	4	0	3	2	2	0	3	6	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:103354904G>C	ENST00000520539.1	-	9	1501	c.895C>G	c.(895-897)Ctt>Gtt	p.L299V	UBR5_ENST00000220959.4_Missense_Mutation_p.L299V|UBR5_ENST00000521922.1_Intron	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	299					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTAAGGGAAGAAGGAGAACT	0.443													4	52					0	0	0	0	C	103354904	G	C	103354904	3	2	154	1	0	0	0	0	1	0	0	0	17001	942	33	2	7708	2	UBR5	8	103354904	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	39255489	103354904	43009118	58	28105											
RIMS2	9699	broad.mit.edu	37	chr8	105026752	105026752	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtctcatcctcgtactggGtctgtccagacaagcccatc	8	10	9	14	1	2	1	1	0	2	1	7	1	4	1	3	2	2	1	3	2	2	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:105026752G>A	ENST00000507740.1	+	17	2921	c.2685G>A	c.(2683-2685)ggG>ggA	p.G895G	RIMS2_ENST00000406091.3_Silent_p.G1081G|RIMS2_ENST00000262231.10_Silent_p.G920G|RIMS2_ENST00000436393.2_Silent_p.G821G	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1143	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTCGTACTGGGTCTGTCCAGA	0.423										HNSCC(12;0.0054)			13	31					0	0	0	0	A	105026752	G	A	105026752	2	1	154	1	0	0	0	0	0	0	0	1	13453	1248	44	4		4	RIMS2	8	105026752	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	1671848	105026752	41337270	59	28106											
CSMD3	114788	broad.mit.edu	37	chr8	113649148	113649148	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgaagagcatgagaaggTcagagtgtcaccaatcccaa	15	5	10	11	1	2	3	2	1	0	3	3	5	3	3	3	1	1	1	3	1	4	0			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:113649148T>A	ENST00000297405.5	-	22	3857	c.3613A>T	c.(3613-3615)Acc>Tcc	p.T1205S	CSMD3_ENST00000455883.2_Missense_Mutation_p.T1101S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1205S|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1165S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1205	Sushi 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATGAGAAGGTCAGAGTGTCA	0.473										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	92					0	0	0	0	A	113649148	T	A	113649148	3	1	154	1	0	0	0	0	1	0	0	0	3978	1667	58	5	7710	5	CSMD3	8	113649148	Missense_Mutation	SNP	T	TCGA-CQ-7064-01A-11D-2394-08	8622396	113649148	32714874	60	28107											
ZNF707	286075	broad.mit.edu	37	chr8	144776523	144776523	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagggtccacagcggggaGaagccctacacctgtgccga	10	4	14	13	2	0	2	0	0	0	2	1	4	1	2	4	3	4	0	4	3	2	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:144776523G>C	ENST00000532205.1	+	8	1838	c.939G>C	c.(937-939)gaG>gaC	p.E313D	ZNF707_ENST00000532158.1_Missense_Mutation_p.E313D|ZNF707_ENST00000358656.4_Missense_Mutation_p.E313D|ZNF707_ENST00000418203.2_Missense_Mutation_p.E313D|ZNF707_ENST00000454097.1_Missense_Mutation_p.E313D			Q96C28	ZN707_HUMAN	zinc finger protein 707	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACAGCGGGGAGAAGCCCTACA	0.652													5	47					0	0	0	0	C	144776523	G	C	144776523	3	2	154	1	0	0	0	0	1	0	0	0	18206	933	33	2	953	2	ZNF707	8	144776523	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	31127375	144776523	1587499	61	28108											
GRHPR	9380	broad.mit.edu	37	chr9	37428508	37428508	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggacctcgtggaagcccctCtggctgtgtggctatggact	5	11	14	11	1	1	0	0	0	1	0	2	3	1	3	3	5	1	2	3	5	2	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:37428508C>G	ENST00000607784.1	+	5	437	c.432C>G	c.(430-432)ctC>ctG	p.L144L	GRHPR_ENST00000318158.6_Silent_p.L144L|GRHPR_ENST00000493368.1_3'UTR			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	144					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GGAAGCCCCTCTGGCTGTGTG	0.687													22	223					0	0	0	0	G	37428508	C	G	37428508	2	3	154	1	0	0	0	0	0	0	0	1	6816	900	32	2		2	GRHPR	9	37428508	Silent	SNP	C	TCGA-CQ-7064-01A-11D-2394-08		37428508	103784923	62	28109											
ALDH1B1	219	broad.mit.edu	37	chr9	38396346	38396346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacttgccccggcactcGccacaggcaacactgtggtt	9	7	11	14	2	0	0	0	0	0	0	1	1	0	1	3	4	3	3	3	4	2	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:38396346G>A	ENST00000377698.3	+	2	754	c.601G>A	c.(601-603)Gcc>Acc	p.A201T		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	201					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.A201T(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CCCGGCACTCGCCACAGGCAA	0.597													35	133					0	0	0	0	A	38396346	G	A	38396346	3	1	154	1	0	0	0	0	1	0	0	0	493	1087	38	1	603	1	ALDH1B1	9	38396346	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	967838	38396346	102817085	63	28110											
CNTNAP3	79937	broad.mit.edu	37	chr9	39144302	39144307	+	In_Frame_Del	DEL	TGGGAA	TGGGAA	-																															aggagaaggtgtcccacgacTgggaacactcgcccccatgc																										TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:39144302_39144307delTGGGAA	ENST00000297668.6	-	11	1759_1764	c.1686_1691delTTCCCA	c.(1684-1692)tgg>tg	p.CSQ562del	CNTNAP3_ENST00000358144.2_In_Frame_Del_p.CSQ474del|CNTNAP3_ENST00000377659.1_In_Frame_Del_p.CSQ562del|CNTNAP3_ENST00000377656.2_In_Frame_Del_p.CSQ562del|CNTNAP3_ENST00000323947.7_Intron	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	562	EGF-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTCCCACGACTGGGAACACTCGCCCC	0.505													7	9	---	---	---	---					-	39144307	TGGGAA	-	39144302	7	5	154	1	0	1	0	1	0	0	0	0	3678	1580	55	0	2231	0	CNTNAP3	9	39144302	In_Frame_Del	DEL	TGGGAA	TCGA-CQ-7064-01A-11D-2394-08	747956	39144302	102069129	64	28111											
SYK	6850	broad.mit.edu	37	chr9	93624537	93624537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgccctgtgcctgctgcacGaagggaaggtgctgcactat	8	8	13	12	2	0	0	0	0	0	0	0	2	0	1	2	2	5	4	2	2	3	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:93624537G>A	ENST00000375754.4	+	4	776	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	SYK_ENST00000375747.1_Missense_Mutation_p.E210K|SYK_ENST00000375751.4_Missense_Mutation_p.E210K|SYK_ENST00000375746.1_Missense_Mutation_p.E210K	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	210	SH2 2.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CCTGCTGCACGAAGGGAAGGT	0.587			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								5	35					0	0	0	0	A	93624537	G	A	93624537	3	1	154	1	0	0	0	0	1	0	0	0	15529	1059	37	1	638	1	SYK	9	93624537	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	54480235	93624537	47588894	65	28112											
C9orf91	203197	broad.mit.edu	37	chr9	117400893	117400893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggtgagccctgcaacagcgGaggggcctgagaacttggag	9	5	18	9	1	0	2	0	2	0	1	0	5	0	4	2	5	5	1	2	5	2	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:117400893G>A	ENST00000374049.4	+	8	1176	c.739G>A	c.(739-741)Gag>Aag	p.E247K	C9orf91_ENST00000288502.4_Missense_Mutation_p.E246K	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	246						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						TGCAACAGCGGAGGGGCCTGA	0.552													23	105					0	0	0	0	A	117400893	G	A	117400893	3	1	154	1	0	0	0	0	1	0	0	0	2530	1175	41	2	762	2	C9orf91	9	117400893	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	23776356	117400893	23812538	66	28113											
CDK9	1025	broad.mit.edu	37	chr9	130548517	130548517	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aagatcggccaaggcaccttCgggtaaggctgggcccctcg	8	6	14	13	3	0	1	0	0	0	1	3	1	0	1	4	5	0	3	4	5	3	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:130548517C>G	ENST00000373265.2	+	1	441	c.441C>G	c.(439-441)ttC>ttG	p.F147L	CDK9_ENST00000373264.4_Missense_Mutation_p.F30L|CDK9_ENST00000480353.1_3'UTR			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	30	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						AAGGCACCTTCGGGTAAGGCT	0.647													20	97					0	0	0	0	G	130548517	C	G	130548517	3	3	154	1	0	0	0	0	1	0	0	0	3180	883	31	3	92	3	CDK9	9	130548517	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	13147624	130548517	10664914	67	28114											
DPP7	29952	broad.mit.edu	37	chr9	140007845	140007845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggaagaactggttggagtCgccgaggcctgccacagcta	9	6	14	12	3	0	1	0	0	0	1	1	4	0	3	4	4	3	2	4	4	3	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:140007845C>T	ENST00000371579.2	-	5	593	c.589G>A	c.(589-591)Gac>Aac	p.D197N		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	197						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		TGGTTGGAGTCGCCGAGGCCT	0.667													21	83					0	0	0	0	T	140007845	C	T	140007845	3	4	154	1	0	0	0	0	1	0	0	0	4767	884	31	1	925	1	DPP7	9	140007845	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	9459328	140007845	1205586	68	28115											
PNPLA7	375775	broad.mit.edu	37	chr9	140356632	140356632	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtggccggcactcacgCagatctcgttgaacttgccg	6	8	14	13	5	2	2	1	1	1	1	3	2	2	2	2	3	2	3	2	3	1	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:140356632C>A	ENST00000406427.1	-	31	3980	c.3645_splice	c.e31+1	p.C1215_splice	PNPLA7_ENST00000371457.1_Splice_Site_p.C796_splice|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Splice_Site_p.C1190_splice	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1190					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGCACTCACGCAGATCTCGTT	0.662													5	43					5.9392e-07	6.61797e-07	1	0	A	140356632	C	A	140356632	5	1	154	1	0	0	0	0	0	0	1	0	12242	724	25	4	404	4	PNPLA7	9	140356632	Splice_Site	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	348787	140356632	856799	69	28116											
PRKG1	5592	broad.mit.edu	37	chr10	53893658	53893658	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtaacctgccttgtgattGacagagagtaagtacattgt	11	13	10	7	0	0	3	0	2	0	1	0	4	0	3	2	0	3	3	2	0	3	6			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr10:53893658G>C	ENST00000373980.4	+	8	1411	c.994G>C	c.(994-996)Gac>Cac	p.D332H	PRKG1_ENST00000373975.2_Missense_Mutation_p.D35H|PRKG1_ENST00000401604.2_Missense_Mutation_p.D317H|PRKG1_ENST00000373985.1_Missense_Mutation_p.D305H	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	317					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CCTTGTGATTGACAGAGAGTA	0.333													7	22					0	0	0	0	C	53893658	G	C	53893658	3	2	154	1	0	0	0	0	1	0	0	0	12602	1290	45	2	1294	2	PRKG1	10	53893658	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08		53893658	81641089	70	28117											
CDHR1	92211	broad.mit.edu	37	chr10	85974237	85974237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtggaccgtgcctactGtctctggctctctcactccg	4	11	9	17	2	3	0	1	0	2	0	6	1	4	1	4	2	2	1	4	2	1	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr10:85974237G>A	ENST00000372117.3	+	17	2543	c.2440G>A	c.(2440-2442)Gtc>Atc	p.V814I	CDHR1_ENST00000440770.2_Missense_Mutation_p.V518I|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	814	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CGTGCCTACTGTCTCTGGCTC	0.622													36	184					0	0	0	0	A	85974237	G	A	85974237	3	1	154	1	0	0	0	0	1	0	0	0	3147	1377	48	4	2506	4	CDHR1	10	85974237	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	32080579	85974237	49560510	71	28118											
HECTD2	143279	broad.mit.edu	37	chr10	93221956	93221956	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatactgtaagtattatgacAtgcaagtaatattattctgt	15	16	6	4	0	1	1	0	1	1	0	1	1	1	1	0	0	2	4	0	0	9	8			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr10:93221956A>T	ENST00000371681.4	+	5	710	c.615A>T	c.(613-615)acA>acT	p.T205T	HECTD2_ENST00000536715.1_Intron|HECTD2_ENST00000446394.1_Intron|HECTD2_ENST00000298068.5_Intron	NM_173497.2	NP_775768.2	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GTATTATGACATGCAAGTAAT	0.313													10	58					0	0	0	0	T	93221956	A	T	93221956	2	4	154	1	0	0	0	0	0	0	0	1	7090	204	8	5		5	HECTD2	10	93221956	Silent	SNP	A	TCGA-CQ-7064-01A-11D-2394-08	7247719	93221956	42312791	72	28119											
TMEM180	79847	broad.mit.edu	37	chr10	104233472	104233472	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccggcccggaccacctCagcctgctgtgcctcttcat	4	10	10	17	2	3	0	2	0	1	0	3	1	3	1	6	3	3	1	6	3	0	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr10:104233472C>A	ENST00000238936.4	+	8	1308	c.1071C>A	c.(1069-1071)ctC>ctA	p.L357L	TMEM180_ENST00000366277.2_Silent_p.L86L	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	357						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGGACCACCTCAGCCTGCTGT	0.652													22	104					6.33239e-15	7.26362e-15	1	0	A	104233472	C	A	104233472	2	1	154	1	0	0	0	0	0	0	0	1	16193	813	29	2		2	TMEM180	10	104233472	Silent	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	11011516	104233472	31301275	73	28120											
NLRP14	338323	broad.mit.edu	37	chr11	7064249	7064249	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtagagctactaggaatgtCtgaggatgcaagagaggagt	13	9	15	4	0	1	3	0	1	1	2	1	7	1	6	0	3	3	3	0	3	5	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:7064249C>G	ENST00000299481.4	+	4	1338	c.992C>G	c.(991-993)tCt>tGt	p.S331C		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	331	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTAGGAATGTCTGAGGATGCA	0.398													27	86					0	0	0	0	G	7064249	C	G	7064249	3	3	154	1	0	0	0	0	1	0	0	0	10546	913	32	2	1002	2	NLRP14	11	7064249	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08		7064249	127942267	74	28121											
FJX1	24147	broad.mit.edu	37	chr11	35640755	35640755	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acccggagcagattcagggcGaggccctgtcttactatctg	8	9	12	12	2	3	1	1	0	2	1	3	3	3	2	2	3	2	1	2	3	2	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:35640755G>C	ENST00000317811.4	+	1	1021	c.571G>C	c.(571-573)Gag>Cag	p.E191Q		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	191						extracellular space		p.E191K(2)		lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				GATTCAGGGCGAGGCCCTGTC	0.731													3	22					0	0	0	0	C	35640755	G	C	35640755	3	2	154	1	0	0	0	0	1	0	0	0	5946	1059	37	3	573	3	FJX1	11	35640755	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	28576506	35640755	99365761	75	28122											
ALX4	60529	broad.mit.edu	37	chr11	44286713	44286713	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagccccgttgttgccGagccaggacgggttctgaat	7	8	15	11	3	1	1	0	1	1	0	1	4	1	2	4	3	3	4	4	3	1	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:44286713G>T	ENST00000329255.3	-	4	1030	c.927C>A	c.(925-927)ctC>ctA	p.L309L		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	309					hair follicle development			p.L309L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CGTTGTTGCCGAGCCAGGACG	0.692													3	23					0.115264	0.116008	1	0	T	44286713	G	T	44286713	2	4	154	1	0	0	0	0	0	0	0	1	558	1045	37	3		3	ALX4	11	44286713	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	8645958	44286713	90719803	76	28123											
OR4C15	81309	broad.mit.edu	37	chr11	55322833	55322833	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggaagtaaaacaggccAtgaggagaatatggaacaga	20	5	12	4	0	0	3	0	1	0	2	0	6	0	5	1	4	2	1	1	4	7	3	rs112163324		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:55322833A>T	ENST00000314644.2	+	1	1051	c.1051A>T	c.(1051-1053)Atg>Ttg	p.M351L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AAAACAGGCCATGAGGAGAAT	0.333										HNSCC(20;0.049)			14	42					0	0	0	0	T	55322833	A	T	55322833	3	4	154	1	0	0	0	0	1	0	0	0	11119	217	8	5	1053	5	OR4C15	11	55322833	Missense_Mutation	SNP	A	TCGA-CQ-7064-01A-11D-2394-08	11036120	55322833	79683683	77	28124											
OR5A1	219982	broad.mit.edu	37	chr11	59210716	59210717	+	Frame_Shift_Ins	INS	-	-	CTCC																															gattcacagaccatccagaaINSctccaggccctcctctttgt																										TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:59210716_59210717insCTCC	ENST00000302030.2	+	1	100_101	c.75_76insCTCC	c.(73-78)gatccafs	p.P26fs		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACCATCCAGAACTCCAGGCCCT	0.53													23	105	---	---	---	---					CTCC	59210717	-	CTCC	59210716	7	5	154	1	0	1	1	0	0	0	0	0	11210	40	2	0	77	0	OR5A1	11	59210716	Frame_Shift_Ins	INS	-	TCGA-CQ-7064-01A-11D-2394-08	3887883	59210716	75795800	78	28125											
DAGLA	747	broad.mit.edu	37	chr11	61511051	61511051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcttctcggaggggcGgctgctgtcgccagtggttg	3	9	20	9	3	1	0	0	0	1	0	3	2	1	2	1	7	1	4	1	7	0	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:61511051G>A	ENST00000257215.5	+	20	2335	c.2219G>A	c.(2218-2220)cGg>cAg	p.R740Q		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	740					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCGGAGGGGCGGCTGCTGTCG	0.687													38	200					0	0	0	0	A	61511051	G	A	61511051	3	1	154	1	0	0	0	0	1	0	0	0	4259	1116	39	1	2293	1	DAGLA	11	61511051	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	2300335	61511051	73495465	79	28126											
SLC22A6	9356	broad.mit.edu	37	chr11	62751882	62751882	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgtgccattggcttctGtgccattgagaaagggcagt	7	11	12	11	0	1	1	0	1	1	1	1	2	1	1	4	2	2	2	4	2	1	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:62751882G>C	ENST00000377871.3	-	1	547	c.281C>G	c.(280-282)aCa>aGa	p.T94R	SLC22A6_ENST00000360421.4_Missense_Mutation_p.T94R|SLC22A6_ENST00000458333.2_Missense_Mutation_p.T94R|SLC22A6_ENST00000421062.2_Missense_Mutation_p.T94R	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	94					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATTGGCTTCTGTGCCATTGAG	0.642													28	131					0	0	0	0	C	62751882	G	C	62751882	3	2	154	1	0	0	0	0	1	0	0	0	14546	1377	48	4	1450	4	SLC22A6	11	62751882	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	1240831	62751882	72254634	80	28127											
NNMT	4837	broad.mit.edu	37	chr11	114182777	114182777	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtttttcagagtcaagggtCcagagaaggaggagaagttg	12	10	15	4	0	2	3	2	0	0	3	3	6	3	4	1	3	0	2	1	3	3	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:114182777C>A	ENST00000535401.1	+	5	637	c.373C>A	c.(373-375)Cca>Aca	p.P125T	NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.P125T|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	125					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	AGTCAAGGGTCCAGAGAAGGA	0.537													12	66					0.00010058	0.000108962	1	0	A	114182777	C	A	114182777	3	1	154	1	0	0	0	0	1	0	0	0	10579	855	30	2	383	2	NNMT	11	114182777	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	51430895	114182777	20823739	81	28128											
OR10G4	390264	broad.mit.edu	37	chr11	123886728	123886728	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccaccggcacttggctCagtggctctctgcactctgc	4	10	11	16	1	3	0	1	0	2	0	4	0	3	0	2	4	2	4	2	4	0	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:123886728C>A	ENST00000320891.4	+	1	447	c.447C>A	c.(445-447)ctC>ctA	p.L149L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCACTTGGCTCAGTGGCTCTC	0.562													59	198					3.31162e-33	3.8843e-33	1	0	A	123886728	C	A	123886728	2	1	154	1	0	0	0	0	0	0	0	1	10972	813	29	2		2	OR10G4	11	123886728	Silent	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	9703951	123886728	11119788	82	28129											
COQ5	84274	broad.mit.edu	37	chr12	120960070	120960070	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagcgggtgcatcttcCagagcagcaaatccttccaa	12	7	10	12	1	1	1	0	0	1	1	4	2	4	2	3	2	4	3	3	2	3	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr12:120960070C>T	ENST00000288532.6	-	2	339	c.299G>A	c.(298-300)tGg>tAg	p.W100*	COQ5_ENST00000445328.2_Nonsense_Mutation_p.W100*	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	100					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCATCTTCCAGAGCAGCAA	0.453													11	54					0	0	0	0	T	120960070	C	T	120960070	4	4	154	1	0	0	0	0	0	1	0	0	3778	595	21	4	708	4	COQ5	12	120960070	Nonsense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08		120960070	12891825	83	28130											
COQ5	84274	broad.mit.edu	37	chr12	120966920	120966920	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggccgcaatagctccataGagcacagctcccgggggccg	9	4	13	15	4	0	1	0	0	0	1	2	1	2	1	4	3	3	4	4	3	3	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr12:120966920G>C	ENST00000288532.6	-	1	65	c.25C>G	c.(25-27)Cta>Gta	p.L9V	COQ5_ENST00000445328.2_Missense_Mutation_p.L9V	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	9					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGCTCCATAGAGCACAGCTC	0.662													13	42					0	0	0	0	C	120966920	G	C	120966920	3	2	154	1	0	0	0	0	1	0	0	0	3778	933	33	2	986	2	COQ5	12	120966920	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	6850	120966920	12884975	84	28131											
PCDH8	5100	broad.mit.edu	37	chr13	53420641	53420641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acgccagctccccgttggctCcctcgtctgcatcccgggcc	3	8	10	20	4	1	0	0	0	1	0	5	0	4	0	6	2	2	4	6	2	0	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr13:53420641C>T	ENST00000377942.3	-	1	2134	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E	PCDH8_ENST00000338862.4_Missense_Mutation_p.G644E	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	644	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCCGTTGGCTCCCTCGTCTGC	0.706													7	35					0	0	0	0	T	53420641	C	T	53420641	3	4	154	1	0	0	0	0	1	0	0	0	11588	855	30	2	1293	2	PCDH8	13	53420641	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08		53420641	61749237	85	28132											
PCDH17	27253	broad.mit.edu	37	chr13	58207202	58207202	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctacctgctcacgcgcgaCgatcacggcctctttggact	7	9	9	16	5	3	0	2	0	1	0	3	3	3	1	3	2	2	1	3	2	1	2	rs141382823	byFrequency	TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr13:58207202C>T	ENST00000377918.3	+	1	548	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	174	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCACGCGCGACGATCACGGCC	0.647													4	24					0	0	0	0	T	58207202	C	T	58207202	2	4	154	1	0	0	0	0	0	0	0	1	11583	535	19	1		1	PCDH17	13	58207202	Silent	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	4786561	58207202	56962676	86	28133											
SCEL	8796	broad.mit.edu	37	chr13	78214811	78214811	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattgcttacatttctatagGtctgtcattgaaagagatat	13	16	7	5	0	3	2	1	1	2	1	3	3	3	2	0	1	2	1	0	1	6	7			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr13:78214811G>T	ENST00000535157.1	+	29	1883	c.1712_splice	c.e29-1	p.R571_splice	SCEL_ENST00000349847.3_Splice_Site_p.R613_splice|SCEL_ENST00000377246.3_Splice_Site_p.R593_splice	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	613					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ATTTCTATAGGTCTGTCATTG	0.318													4	23					0.150653	0.150653	1	0	T	78214811	G	T	78214811	5	4	154	1	0	0	0	0	0	0	1	0	13974	1275	44	4	1957	4	SCEL	13	78214811	Splice_Site	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	20007609	78214811	36955067	87	28134											
FSCB	84075	broad.mit.edu	37	chr14	44974150	44974150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggtagagactgaacttCagcaggggcctcctcagctg	9	8	13	11	0	2	2	2	1	0	1	3	3	3	2	2	3	4	4	2	3	2	2	rs150146536		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr14:44974150C>T	ENST00000340446.4	-	1	2332	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	681						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GACTGAACTTCAGCAGGGGCC	0.612													9	40					0	0	0	0	T	44974150	C	T	44974150	3	4	154	1	0	0	0	0	1	0	0	0	6114	835	29	2	440	2	FSCB	14	44974150	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08		44974150	62375390	88	28135											
MTHFD1	4522	broad.mit.edu	37	chr14	64902332	64902332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaccacactgacagatgaaGagataaacagatttgcaaga	18	7	8	8	0	0	6	0	2	0	4	0	7	0	6	1	0	3	1	1	0	5	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr14:64902332G>C	ENST00000555709.1	+	16	1927	c.1540G>C	c.(1540-1542)Gag>Cag	p.E514Q	MTHFD1_ENST00000545908.1_Missense_Mutation_p.E570Q|MTHFD1_ENST00000216605.7_Missense_Mutation_p.E570Q|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000555252.1_Missense_Mutation_p.E494Q	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	514	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GACAGATGAAGAGATAAACAG	0.383													11	50					0	0	0	0	C	64902332	G	C	64902332	3	2	154	1	0	0	0	0	1	0	0	0	9997	943	33	2	1602	2	MTHFD1	14	64902332	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	19928182	64902332	42447208	89	28136											
RIN3	79890	broad.mit.edu	37	chr14	93118418	93118418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccgcccatgatgacctgcGagagactcccatgccccact	9	6	9	17	2	0	3	0	2	0	1	1	5	1	3	6	0	3	0	6	0	0	0			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr14:93118418G>A	ENST00000216487.7	+	6	1183	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	342	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GATGACCTGCGAGAGACTCCC	0.697													9	67					0	0	0	0	A	93118418	G	A	93118418	3	1	154	1	0	0	0	0	1	0	0	0	13458	1059	37	1	1046	1	RIN3	14	93118418	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	28216086	93118418	14231122	90	28137											
SLC12A1	6557	broad.mit.edu	37	chr15	48500249	48500249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatggatgccgttcccaaGatagagtactatcgtaacac	13	9	8	11	2	0	2	0	0	0	2	2	3	1	3	3	1	3	3	3	1	5	5			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr15:48500249G>A	ENST00000396577.3	+	2	548	c.333G>A	c.(331-333)aaG>aaA	p.K111K	SLC12A1_ENST00000380993.3_Silent_p.K111K|SLC12A1_ENST00000558405.1_Silent_p.K111K|SLC12A1_ENST00000561031.1_Silent_p.K111K|SLC12A1_ENST00000330289.6_Silent_p.K111K	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	111					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCGTTCCCAAGATAGAGTACT	0.473													19	65					0	0	0	0	A	48500249	G	A	48500249	2	1	154	1	0	0	0	0	0	0	0	1	14470	933	33	2		2	SLC12A1	15	48500249	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08		48500249	54031143	91	28138											
RNF111	54778	broad.mit.edu	37	chr15	59368279	59368279	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctgcaatctttggccatCaggccgctgctgctgcccca	6	9	11	15	1	2	0	1	0	1	0	2	1	2	0	4	2	5	5	4	2	1	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr15:59368279C>T	ENST00000348370.4	+	7	2246	c.1813C>T	c.(1813-1815)Cag>Tag	p.Q605*	RNF111_ENST00000557998.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.Q605*	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	605					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q605*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTTTGGCCATCAGGCCGCTGC	0.557													24	119					0	0	0	0	T	59368279	C	T	59368279	4	4	154	1	0	0	0	0	0	1	0	0	13510	827	29	2	1835	2	RNF111	15	59368279	Nonsense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	10868030	59368279	43163113	92	28139											
ARNT2	9915	broad.mit.edu	37	chr15	80884001	80884001	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatggccagcagagcggtGagcagcactcccaccagcag	11	3	12	15	1	0	2	0	1	0	1	1	2	1	2	4	2	5	4	4	2	0	0			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr15:80884001G>T	ENST00000533983.1	+	19	2317	c.1978G>T	c.(1978-1980)Gag>Tag	p.E660*	ARNT2_ENST00000303329.4_Nonsense_Mutation_p.E671*|ARNT2_ENST00000527771.1_Nonsense_Mutation_p.E660*			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	671					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCAGAGCGGTGAGCAGCACTC	0.602													29	104					2.46105e-21	2.84388e-21	1	0	T	80884001	G	T	80884001	4	4	154	1	0	0	0	0	0	1	0	0	970	1291	45	2	2081	2	ARNT2	15	80884001	Nonsense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	21515722	80884001	21647391	93	28140											
AXIN1	8312	broad.mit.edu	37	chr16	354374	354374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctgcacagcctccaggCggtggatgagctcctccgcg	5	7	14	15	4	0	1	0	1	0	0	3	2	3	2	4	3	4	3	4	3	0	0			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr16:354374C>T	ENST00000262320.3	-	5	1555	c.1184G>A	c.(1183-1185)cGc>cAc	p.R395H	AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Missense_Mutation_p.R395H	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	395	Interaction with GSK3B (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.R395P(1)|p.R395fs*18(1)|p.?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AGCCTCCAGGCGGTGGATGAG	0.701													13	60					0	0	0	0	T	354374	C	T	354374	3	4	154	1	0	0	0	0	1	0	0	0	1240	768	27	1	1432	1	AXIN1	16	354374	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08		354374	90000379	94	28141											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	65					0	0	0	0	T	7577548	C	T	7577548	3	4	154	1	0	0	0	0	1	0	0	0	16476	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08		7577548	73617662	95	28142											
TP53	7157	broad.mit.edu	37	chr17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgtgctgtgactgcttgTagatggccatggcgcggacg	6	11	15	9	3	1	2	1	1	0	1	1	3	1	3	1	3	2	3	1	3	1	2	rs148924904		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACTGCTTGTAGATGGCCAT	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	78					0	0	0	0	C	7578442	T	C	7578442	3	2	154	1	0	0	0	0	1	0	0	0	16476	1638	57	5	810	5	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-CQ-7064-01A-11D-2394-08	894	7578442	73616768	96	28143											
DNAH2	146754	broad.mit.edu	37	chr17	7662351	7662351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaaagagagcatcgggCagctgtacagcagaaattga	15	5	13	8	1	0	3	0	1	0	2	1	5	0	4	1	2	4	5	1	2	3	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:7662351C>A	ENST00000572933.1	+	15	3817	c.2357C>A	c.(2356-2358)gCa>gAa	p.A786E	DNAH2_ENST00000389173.2_Missense_Mutation_p.A786E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	786	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGCATCGGGCAGCTGTACAG	0.507													7	50					0.0293803	0.0299564	1	0	A	7662351	C	A	7662351	3	1	154	1	0	0	0	0	1	0	0	0	4639	710	25	4	2411	4	DNAH2	17	7662351	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	83909	7662351	73532859	97	28144											
LRRC37B	114659	broad.mit.edu	37	chr17	30348463	30348463	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttggctccattcctgaagGaattggattcagctggagag	10	12	12	7	0	1	2	1	1	0	1	3	5	3	4	2	4	1	2	2	4	2	4			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:30348463G>T	ENST00000327564.7	+	1	440	c.379G>T	c.(379-381)Gaa>Taa	p.E127*	LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.E18*|LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.E112*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.E100*|LRRC37B_ENST00000341671.7_Nonsense_Mutation_p.E100*			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	100						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATTCCTGAAGGAATTGGATTC	0.557													48	159					1.30916e-28	1.5241e-28	1	0	T	30348463	G	T	30348463	4	4	154	1	0	0	0	0	0	1	0	0	9058	1175	41	2	300	2	LRRC37B	17	30348463	Nonsense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	22686112	30348463	50846747	98	28145											
MED24	9862	broad.mit.edu	37	chr17	38189606	38189606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagccggtacctcctaatGagggtgccacactgctcggc	7	7	14	13	2	0	1	0	1	0	0	2	2	1	2	4	4	4	2	4	4	2	2			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:38189606G>A	ENST00000394126.1	-	6	1156	c.738C>T	c.(736-738)ctC>ctT	p.L246L	MED24_ENST00000501516.3_Silent_p.L240L|MED24_ENST00000394127.2_Silent_p.L208L|MED24_ENST00000356271.3_Silent_p.L208L|MED24_ENST00000394128.2_Silent_p.L221L			O75448	MED24_HUMAN	mediator complex subunit 24	221					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ACCTCCTAATGAGGGTGCCAC	0.612													7	20					0	0	0	0	A	38189606	G	A	38189606	2	1	154	1	0	0	0	0	0	0	0	1	9511	1277	45	2		2	MED24	17	38189606	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	7841143	38189606	43005604	99	28146											
KRT12	3859	broad.mit.edu	37	chr17	39020020	39020020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggtttcatactgcgcccGcatatcattgaggagcctgg	8	11	12	10	2	2	1	2	1	0	0	2	3	2	2	2	3	3	2	2	3	2	4			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:39020020G>A	ENST00000251643.4	-	4	927	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	302	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TACTGCGCCCGCATATCATTG	0.552													13	56					0	0	0	0	A	39020020	G	A	39020020	3	1	154	1	0	0	0	0	1	0	0	0	8501	1086	38	1	600	1	KRT12	17	39020020	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	830414	39020020	42175190	100	28147											
ITGB4	3691	broad.mit.edu	37	chr17	73748648	73748648	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagaggcccagcgtctcCgatgacactggtgagtggag	9	6	15	11	2	1	3	0	2	1	1	2	5	1	4	3	3	2	0	3	3	0	0			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:73748648C>T	ENST00000200181.3	+	32	4285	c.4098C>T	c.(4096-4098)tcC>tcT	p.S1366S	ITGB4_ENST00000450894.3_Silent_p.S1366S|ITGB4_ENST00000449880.2_Silent_p.S1366S|ITGB4_ENST00000339591.3_Silent_p.S1366S|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Silent_p.S1366S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1366					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAGCGTCTCCGATGACACTG	0.612													25	106					0	0	0	0	T	73748648	C	T	73748648	2	4	154	1	0	0	0	0	0	0	0	1	7950	639	23	1		1	ITGB4	17	73748648	Silent	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	34728628	73748648	7446562	101	28148											
SYNGR2	9144	broad.mit.edu	37	chr17	76168045	76168045	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagcgtgggaagggggacaGagagggccctcccctctgcc	7	6	16	12	1	1	1	0	0	1	1	2	4	2	3	4	4	2	0	4	4	2	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:76168045G>C	ENST00000588282.1	+	3	798	c.792G>C	c.(790-792)caG>caC	p.Q264H	SYNGR2_ENST00000590201.1_3'UTR|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000225777.3_3'UTR|SYNGR2_ENST00000585591.1_Intron	NM_004710.3	NP_004701.1	O43760	SNG2_HUMAN	synaptogyrin 2	0						integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			AAGGGGGACAGAGAGGGCCCT	0.627													28	75					0	0	0	0	C	76168045	G	C	76168045	3	2	154	1	0	0	0	0	1	0	0	0	15540	957	33	2		2	SYNGR2	17	76168045	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	2419397	76168045	5027165	102	28149											
ACSBG2	81616	broad.mit.edu	37	chr19	6187370	6187370	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttaagaagaagatccccatCatcagtaacgccatgttagt	14	10	8	9	1	2	3	2	0	0	3	3	3	3	3	3	0	1	3	3	0	5	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:6187370C>G	ENST00000588304.1	+	12	1913	c.1467C>G	c.(1465-1467)atC>atG	p.I489M	ACSBG2_ENST00000588485.1_Missense_Mutation_p.I352M|ACSBG2_ENST00000586696.1_Missense_Mutation_p.I539M|ACSBG2_ENST00000591403.1_Missense_Mutation_p.I539M|ACSBG2_ENST00000252669.5_Missense_Mutation_p.I539M|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	539					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGATCCCCATCATCAGTAACG	0.473													24	82					0	0	0	0	G	6187370	C	G	6187370	3	3	154	1	0	0	0	0	1	0	0	0	174	816	29	2	1659	2	ACSBG2	19	6187370	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08		6187370	52941613	103	28150											
MYO1F	4542	broad.mit.edu	37	chr19	8592316	8592316	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttcttcactttctctcGcccaatcacatacacacact	9	13	1	18	1	4	0	2	0	2	0	7	0	5	0	2	0	1	0	2	0	2	4			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:8592316G>T	ENST00000338257.8	-	22	2647	c.2380C>A	c.(2380-2382)Cga>Aga	p.R794R		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	794						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ACTTTCTCTCGCCCAATCACA	0.562													4	28					0.00909568	0.00933504	1	0	T	8592316	G	T	8592316	2	4	154	1	0	0	0	0	0	0	0	1	10143	1095	38	3		3	MYO1F	19	8592316	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	2404946	8592316	50536667	104	28151											
MUC16	94025	broad.mit.edu	37	chr19	9088981	9088981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgtgacattgttgccGtcccagtgaggtgagatatt	7	14	13	7	1	1	3	0	3	1	1	2	4	2	3	2	2	1	1	2	2	1	4			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:9088981G>A	ENST00000397910.4	-	1	3037	c.2834C>T	c.(2833-2835)aCg>aTg	p.T945M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	945	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						CATTGTTGCCGTCCCAGTGAG	0.478													23	75					0	0	0	0	A	9088981	G	A	9088981	3	1	154	1	0	0	0	0	1	0	0	0	10043	1145	40	1	41025	1	MUC16	19	9088981	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	496665	9088981	50040002	105	28152											
CYP4F2	8529	broad.mit.edu	37	chr19	15989614	15989614	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacccgcagccaaagtccGccctctgcgcgcaggaccag	8	4	10	19	4	1	0	0	0	1	0	3	1	3	1	6	1	2	2	6	1	1	0			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:15989614G>T	ENST00000221700.5	-	13	1625	c.1530C>A	c.(1528-1530)ggC>ggA	p.G510G	CYP4F2_ENST00000592328.1_Silent_p.G510G	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	510					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCCAAAGTCCGCCCTCTGCGC	0.617													10	54					0.00010058	0.000108962	1	0	T	15989614	G	T	15989614	2	4	154	1	0	0	0	0	0	0	0	1	4220	1074	38	3		3	CYP4F2	19	15989614	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	6900633	15989614	43139369	106	28153											
ZNF208	7757	broad.mit.edu	37	chr19	22155963	22155963	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaattgccttatgtgtagTaagggttgagaccttactaa	12	14	10	5	0	0	2	0	2	0	1	0	3	0	2	2	1	2	3	2	1	6	7			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:22155963T>A	ENST00000397126.4	-	4	2021	c.1873A>T	c.(1873-1875)Act>Tct	p.T625S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTATGTGTAGTAAGGGTTGAG	0.373													8	37					0	0	0	0	A	22155963	T	A	22155963	3	1	154	1	0	0	0	0	1	0	0	0	17861	1638	57	5	1973	5	ZNF208	19	22155963	Missense_Mutation	SNP	T	TCGA-CQ-7064-01A-11D-2394-08	6166349	22155963	36973020	107	28154											
NFKBID	84807	broad.mit.edu	37	chr19	36386969	36386969	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctcagcacccggggacaGaggtcggaagggcgcatagc	9	4	17	11	3	1	1	1	0	0	1	2	3	1	3	1	5	3	3	1	5	2	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:36386969G>C	ENST00000396901.1	-	9	1092	c.519C>G	c.(517-519)ctC>ctG	p.L173L	NFKBID_ENST00000606253.1_Silent_p.L173L|NFKBID_ENST00000352614.2_Silent_p.L325L	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	173					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CCCGGGGACAGAGGTCGGAAG	0.622													12	107					0	0	0	0	C	36386969	G	C	36386969	2	2	154	1	0	0	0	0	0	0	0	1	10449	929	33	2		2	NFKBID	19	36386969	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	14231006	36386969	22742014	108	28155											
ZNF546	339327	broad.mit.edu	37	chr19	40520014	40520014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatgaatgtaaagaatgtggGaaggcctttagacttcatta	14	13	10	4	0	1	3	1	1	0	2	1	4	1	4	1	2	0	1	1	2	8	6			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:40520014G>A	ENST00000347077.4	+	7	1053	c.837G>A	c.(835-837)ggG>ggA	p.G279G	ZNF546_ENST00000600094.1_Silent_p.G253G|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGAATGTGGGAAGGCCTTTA	0.438													8	81					0	0	0	0	A	40520014	G	A	40520014	2	1	154	1	0	0	0	0	0	0	0	1	18073	1161	41	2		2	ZNF546	19	40520014	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	4133045	40520014	18608969	109	28156											
CEACAM7	1087	broad.mit.edu	37	chr19	42187738	42187738	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggacattcagggtgactggGtcactgcggctggcacccac	7	7	14	13	2	2	1	2	1	0	0	2	2	2	2	1	5	1	2	1	5	0	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:42187738G>A	ENST00000006724.3	-	3	885	c.684C>T	c.(682-684)gaC>gaT	p.D228D	CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000401731.1_Silent_p.D228D|CEACAM7_ENST00000602225.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	228	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GGGTGACTGGGTCACTGCGGC	0.547													35	193					0	0	0	0	A	42187738	G	A	42187738	2	1	154	1	0	0	0	0	0	0	0	1	3226	1252	44	4		4	CEACAM7	19	42187738	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	1667724	42187738	16941245	110	28157											
IGFL3	388555	broad.mit.edu	37	chr19	46627174	46627174	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgggagatgggagataagtGacactgagacttcataccca	13	7	12	9	1	1	4	1	2	0	3	1	7	1	4	2	2	1	0	2	2	2	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:46627174G>C	ENST00000341415.2	-	3	343	c.319C>G	c.(319-321)Cac>Gac	p.H107D	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	107						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		GGAGATAAGTGACACTGAGAC	0.517													27	217					0	0	0	0	C	46627174	G	C	46627174	3	2	154	1	0	0	0	0	1	0	0	0	7641	1290	45	2	66	2	IGFL3	19	46627174	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	4439436	46627174	12501809	111	28158											
CCDC114	93233	broad.mit.edu	37	chr19	48806016	48806016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaaggcgctcagcctccGagtgcaccttgtccatgcgc	6	8	10	17	3	2	0	2	0	0	0	4	1	4	0	5	1	3	2	5	1	1	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:48806016G>A	ENST00000315396.7	-	10	1746	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	355										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTCAGCCTCCGAGTGCACCTT	0.647													37	103					0	0	0	0	A	48806016	G	A	48806016	3	1	154	1	0	0	0	0	1	0	0	0	2776	1059	37	1	968	1	CCDC114	19	48806016	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	2178842	48806016	10322967	112	28159											
SCAF1	58506	broad.mit.edu	37	chr19	50157947	50157947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctcaagtctggggatGaccccagctcctgtgcccac	7	7	9	18	0	2	1	1	1	1	0	3	2	3	2	6	2	2	1	6	2	1	0			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:50157947G>T	ENST00000360565.3	+	9	3562	c.3438G>T	c.(3436-3438)atG>atT	p.M1146I		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1146			M -> T (in dbSNP:rs2304208).		mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GTCTGGGGATGACCCCAGCTC	0.652													17	154					2.4624e-09	2.78358e-09	1	0	T	50157947	G	T	50157947	3	4	154	1	0	0	0	0	1	0	0	0	13954	1290	45	2	3468	2	SCAF1	19	50157947	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	1351931	50157947	8971036	113	28160											
ZNF845	91664	broad.mit.edu	37	chr19	53848880	53848880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaattataggaacctggtctCcctgggtgaggataacttcc	10	11	11	9	0	1	1	0	1	1	0	3	4	2	3	3	4	2	0	3	4	5	4			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:53848880C>T	ENST00000458035.1	+	3	254	c.137C>T	c.(136-138)tCc>tTc	p.S46F	ZNF845_ENST00000595091.1_Missense_Mutation_p.S46F	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AACCTGGTCTCCCTGGGTGAG	0.478													59	121					0	0	0	0	T	53848880	C	T	53848880	3	4	154	1	0	0	0	0	1	0	0	0	18284	855	30	2	143	2	ZNF845	19	53848880	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	3690933	53848880	5280103	114	28161											
ZBTB45	84878	broad.mit.edu	37	chr19	59028362	59028362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggccctcgcctgggcCgccaccttcgccatcctcgc	2	8	10	21	4	0	0	0	0	0	0	4	0	1	0	8	2	1	0	8	2	0	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:59028362C>T	ENST00000594051.1	-	2	1159	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	ZBTB45_ENST00000600990.1_Missense_Mutation_p.G227S|ZBTB45_ENST00000354590.3_Missense_Mutation_p.G227S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TCGCCTGGGCCGCCACCTTCG	0.657											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	185	398					0	0	0	0	T	59028362	C	T	59028362	3	4	154	1	0	0	0	0	1	0	0	0	17641	652	23	1	864	1	ZBTB45	19	59028362	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	5179482	59028362	100621	115	28162											
NKX2-2	4821	broad.mit.edu	37	chr20	21492834	21492834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcggcccgggcgcgcttCatcttgtagcggtggttctg	2	13	14	12	5	4	0	1	0	3	0	5	0	4	0	1	4	1	3	1	4	1	5			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr20:21492834C>T	ENST00000377142.4	-	2	905	c.549G>A	c.(547-549)atG>atA	p.M183I	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	183					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGGCGCGCTTCATCTTGTAGC	0.677													16	68					0	0	0	0	T	21492834	C	T	21492834	3	4	154	1	0	0	0	0	1	0	0	0	10520	826	29	2	276	2	NKX2-2	20	21492834	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08		21492834	41532686	116	28163											
SPAG4	6676	broad.mit.edu	37	chr20	34207177	34207210	+	Frame_Shift_Del	DEL	TCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	TCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	-																															agacaggaacactgcctactTctggaatcgcttcagcttct																										TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr20:34207177_34207210delTCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	ENST00000374273.3	+	9	966_999	c.854_887delTCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	c.(853-888)tgfs	p.FWNRFSFWNYAR285fs		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	285	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	p.W286*(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			ACTGCCTACTTCTGGAATCGCTTCAGCTTCTGGAACTACGCACGGCCGCCCACG	0.598													7	168	---	---	---	---					-	34207210	TCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	-	34207177	7	5	154	1	0	1	0	1	0	0	0	0	15070	1783	62	0	888	0	SPAG4	20	34207177	Frame_Shift_Del	DEL	TCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	TCGA-CQ-7064-01A-11D-2394-08	12714343	34207177	28818343	117	28164											
PIGT	51604	broad.mit.edu	37	chr20	44045292	44045292	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccttcctgcaggccccatCaggtgcagagctgtgggtct	6	9	12	14	0	2	1	1	0	1	1	3	1	3	1	4	3	3	3	4	3	0	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr20:44045292C>A	ENST00000279036.6	+	2	403	c.323C>A	c.(322-324)tCa>tAa	p.S108*	PIGT_ENST00000545755.1_Intron|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000372689.5_Nonsense_Mutation_p.S108*|PIGT_ENST00000535404.1_5'UTR|PIGT_ENST00000279035.9_Intron|PIGT_ENST00000543458.2_Nonsense_Mutation_p.S108*	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	108					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CAGGCCCCATCAGGTGCAGAG	0.582													8	41					0.0381472	0.0386426	1	0	A	44045292	C	A	44045292	4	1	154	1	0	0	0	0	0	1	0	0	11971	838	29	2	329	2	PIGT	20	44045292	Nonsense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	9838115	44045292	18980228	118	28165											
EMID1	129080	broad.mit.edu	37	chr22	29629429	29629429	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggccccagggacccacTgggcctccaggccctccagg	6	4	12	19	0	0	0	0	0	0	0	2	1	2	1	7	5	0	0	7	5	0	0			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr22:29629429T>G	ENST00000334018.6	+	9	1073	c.885T>G	c.(883-885)acT>acG	p.T295T	EMID1_ENST00000404820.3_Silent_p.T295T|EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Silent_p.T295T	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	293	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						AGGGACCCACTGGGCCTCCAG	0.572													18	258					0	0	0	0	G	29629429	T	G	29629429	2	3	154	1	0	0	0	0	0	0	0	1	5129	1567	55	5		5	EMID1	22	29629429	Silent	SNP	T	TCGA-CQ-7064-01A-11D-2394-08		29629429	21675137	119	28166											
CACNA1I	8911	broad.mit.edu	37	chr22	40060134	40060134	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccaactacatcttcacGgccatcttcgtgggcgagat	8	11	10	12	3	3	1	1	0	2	1	5	2	4	1	2	2	2	0	2	2	2	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr22:40060134G>A	ENST00000336649.4	+	23	3654	c.3654G>A	c.(3652-3654)acG>acA	p.T1218T	CACNA1I_ENST00000402142.3_Silent_p.T1212T|CACNA1I_ENST00000400164.3_Silent_p.T1177T|CACNA1I_ENST00000401624.1_Silent_p.T1212T|CACNA1I_ENST00000407673.1_Silent_p.T1177T|CACNA1I_ENST00000404898.1_Silent_p.T1177T			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1212					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACATCTTCACGGCCATCTTCG	0.632													3	26					0	0	0	0	A	40060134	G	A	40060134	2	1	154	1	0	0	0	0	0	0	0	1	2571	1103	39	1		1	CACNA1I	22	40060134	Silent	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	10430705	40060134	11244432	120	28167											
GK	2710	broad.mit.edu	37	chrX	30686182	30686182	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtctatgagtgtatagAgaaaacatgtgagaaacttg	14	13	10	4	0	2	3	0	2	2	2	2	5	2	3	0	0	2	1	0	0	6	5			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chrX:30686182A>G	ENST00000378943.3	+	3	385	c.206A>G	c.(205-207)gAg>gGg	p.E69G	GK_ENST00000378946.3_Missense_Mutation_p.E69G|GK_ENST00000427190.1_5'UTR|GK_ENST00000378945.3_Missense_Mutation_p.E69G|GK_ENST00000378941.3_Missense_Mutation_p.E69G	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	69					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						GAGTGTATAGAGAAAACATGT	0.333													10	25					0	0	0	0	G	30686182	A	G	30686182	3	3	154	1	0	0	0	0	1	0	0	0	6471	304	11	5	216	5	GK	23	30686182	Missense_Mutation	SNP	A	TCGA-CQ-7064-01A-11D-2394-08		30686182	124584378	121	28168											
TAF1	6872	broad.mit.edu	37	chrX	70598236	70598236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtccctgaagatggcagtgGgtttgactatggcttcaaac	9	12	12	8	0	1	3	1	2	0	1	2	3	2	3	1	3	1	3	1	3	3	3			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chrX:70598236G>A	ENST00000449580.1	+	7	1133	c.1082G>A	c.(1081-1083)gGg>gAg	p.G361E	TAF1_ENST00000423759.1_Missense_Mutation_p.G382E|TAF1_ENST00000373790.4_Missense_Mutation_p.G361E|TAF1_ENST00000276072.3_Missense_Mutation_p.G382E			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	361	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATGGCAGTGGGTTTGACTAT	0.443													7	184					0	0	0	0	A	70598236	G	A	70598236	3	1	154	1	0	0	0	0	1	0	0	0	15604	1232	43	4	1171	4	TAF1	23	70598236	Missense_Mutation	SNP	G	TCGA-CQ-7064-01A-11D-2394-08	39912054	70598236	84672324	122	28169											
AVPR2	554	broad.mit.edu	37	chrX	153171135	153171135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgagcaatggcctggtgCtggcggccctagctcggcgg	4	7	16	14	3	0	1	0	1	0	0	1	1	0	1	3	6	3	3	3	6	2	1			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chrX:153171135C>A	ENST00000358927.2	+	3	384	c.175C>A	c.(175-177)Ctg>Atg	p.L59M	AVPR2_ENST00000337474.5_Missense_Mutation_p.L59M|AVPR2_ENST00000370049.1_Missense_Mutation_p.L59M			P30518	V2R_HUMAN	arginine vasopressin receptor 2	59			L -> P (in XNDI).		activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGCCTGGTGCTGGCGGCCCT	0.692													9	41					1.08611e-07	1.21894e-07	1	0	A	153171135	C	A	153171135	3	1	154	1	0	0	0	0	1	0	0	0	1237	796	28	4	181	4	AVPR2	23	153171135	Missense_Mutation	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	82572899	153171135	2099425	123	28170											
FUNDC2	65991	broad.mit.edu	37	chrX	154261754	154261754	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatggtggcgtaagctgttCgggcaggaatctggaccttc	7	10	14	10	2	1	0	0	0	1	0	3	2	1	2	2	5	1	4	2	5	2	3	rs147164809		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chrX:154261754C>T	ENST00000369498.3	+	2	464	c.210C>T	c.(208-210)ttC>ttT	p.F70F	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	70						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTAAGCTGTTCGGGCAGGAAT	0.458													28	63					0	0	0	0	T	154261754	C	T	154261754	2	4	154	1	0	0	0	0	0	0	0	1	6146	883	31	1		1	FUNDC2	23	154261754	Silent	SNP	C	TCGA-CQ-7064-01A-11D-2394-08	1090619	154261754	1008806	124	28171											
C1orf159	54991	broad.mit.edu	37	chr1	1019763	1019763	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcggggggatcattgcagCcttgaaaaggagagaaaggc	12	6	17	6	1	1	2	1	1	0	1	1	5	1	4	1	6	2	1	1	6	3	2			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr1:1019763C>T	ENST00000448924.1	-	10	1011	c.579_splice	c.e10-1	p.A194_splice	C1orf159_ENST00000379319.1_Splice_Site_p.A158_splice|C1orf159_ENST00000421241.2_Splice_Site_p.A158_splice|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Splice_Site_p.A194_splice|C1orf159_ENST00000379320.1_Splice_Site_p.A158_splice|C1orf159_ENST00000294576.5_Splice_Site_p.A158_splice			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	194						integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		ATCATTGCAGCCTTGAAAAGG	0.622													7	16					0	0	0	0	T	1019763	C	T	1019763	5	4	155	1	0	0	0	0	0	0	1	0	2027	753	26	4	132	4	C1orf159	1	1019763	Splice_Site	SNP	C	TCGA-CQ-7065-01A-11D-2078-08		1019763	248230858	1	28172											
SLC8A1	6546	broad.mit.edu	37	chr2	40655955	40655955	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagatgcacaaggaaatttTcatcctcctcaaagatatca	15	11	6	9	0	3	2	3	1	0	2	5	4	5	3	2	1	1	1	2	1	4	3			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:40655955T>C	ENST00000406785.1	-	2	1655	c.1466A>G	c.(1465-1467)gAa>gGa	p.E489G	SLC8A1_ENST00000542024.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E489G|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E489G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E489G|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E489G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E489G			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	489	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	AAGGAAATTTTCATCCTCCTC	0.408													24	43					0	0	0	0	C	40655955	T	C	40655955	3	2	155	1	0	0	0	0	1	0	0	0	14794	1783	62	5	1603	5	SLC8A1	2	40655955	Missense_Mutation	SNP	T	TCGA-CQ-7065-01A-11D-2078-08		40655955	202543418	2	28173											
ERCC3	2071	broad.mit.edu	37	chr2	128046236	128046236	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaactctggtaccacttacCgcagggaagaacaatgaccc	13	8	8	12	1	1	2	0	1	1	1	1	3	1	3	3	2	4	2	3	2	6	3	rs138897577		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:128046236C>T	ENST00000493187.2	-	7	1298	c.835_splice	c.e7+1	p.G279_splice	ERCC3_ENST00000285398.2_Splice_Site_p.G343_splice			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	343					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TACCACTTACCGCAGGGAAGA	0.532			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				138	291					0	0	0	0	T	128046236	C	T	128046236	5	4	155	1	0	0	0	0	0	0	1	0	5252	666	23	1	1357	1	ERCC3	2	128046236	Splice_Site	SNP	C	TCGA-CQ-7065-01A-11D-2078-08	87390281	128046236	115153137	3	28174											
LRP1B	53353	broad.mit.edu	37	chr2	141806669	141806669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgtgaaagtctaaagcacGagggtttaccagattttcta	12	12	10	7	2	2	2	0	1	2	1	2	3	2	2	1	1	3	2	1	1	5	6			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:141806669G>A	ENST00000389484.3	-	11	2646	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	559					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTAAAGCACGAGGGTTTACC	0.433										TSP Lung(27;0.18)			42	111					0	0	0	0	A	141806669	G	A	141806669	3	1	155	1	0	0	0	0	1	0	0	0	9019	1058	37	1	12448	1	LRP1B	2	141806669	Missense_Mutation	SNP	G	TCGA-CQ-7065-01A-11D-2078-08	13760433	141806669	101392704	4	28175											
SCN2A	6326	broad.mit.edu	37	chr2	166245201	166245201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccctgttccgagtgatcCgtcttgccaggattggccga	6	11	11	13	3	1	1	0	1	1	0	3	4	3	2	5	2	2	1	5	2	1	4			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:166245201C>T	ENST00000375437.2	+	27	5175	c.4885C>T	c.(4885-4887)Cgt>Tgt	p.R1629C	SCN2A_ENST00000375427.2_Missense_Mutation_p.R1629C|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1629C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1629C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1629					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCGAGTGATCCGTCTTGCCAG	0.433													19	59					0	0	0	0	T	166245201	C	T	166245201	3	4	155	1	0	0	0	0	1	0	0	0	14003	652	23	1	5083	1	SCN2A	2	166245201	Missense_Mutation	SNP	C	TCGA-CQ-7065-01A-11D-2078-08	24438532	166245201	76954172	5	28176											
TTN	7273	broad.mit.edu	37	chr2	179596537	179596537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcaggctaaccagatgatCctgaatgaaagtcttatact	13	11	8	9	0	1	4	0	3	1	1	2	4	2	4	2	1	3	2	2	1	5	3			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:179596537C>A	ENST00000589042.1	-	58	17289	c.17065G>T	c.(17065-17067)Gat>Tat	p.D5689Y	TTN_ENST00000342992.6_Missense_Mutation_p.D4445Y|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5372Y|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5372	Ig-like 37.						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)			ACCAGATGATCCTGAATGAAA	0.502													38	97					6.33695e-27	7.09738e-27	1	0	A	179596537	C	A	179596537	3	1	155	1	0	0	0	0	1	0	0	0	16831	855	30	2	87684	2	TTN	2	179596537	Missense_Mutation	SNP	C	TCGA-CQ-7065-01A-11D-2078-08	13351336	179596537	63602836	6	28177											
CWC22	57703	broad.mit.edu	37	chr2	180830667	180830667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcactactcccagcaTcctggtctgtgttcgagtca	6	13	7	15	1	4	0	2	0	2	0	7	1	6	0	3	1	2	2	3	1	1	3			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:180830667T>C	ENST00000410053.3	-	12	1552	c.1253A>G	c.(1252-1254)gAt>gGt	p.D418G	CWC22_ENST00000295749.6_Missense_Mutation_p.D418G	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	418						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ACTCCCAGCATCCTGGTCTGT	0.363													11	29					0	0	0	0	C	180830667	T	C	180830667	3	2	155	1	0	0	0	0	1	0	0	0	4100	1435	50	5	1509	5	CWC22	2	180830667	Missense_Mutation	SNP	T	TCGA-CQ-7065-01A-11D-2078-08	1234130	180830667	62368706	7	28178											
IGFBP5	3488	broad.mit.edu	37	chr2	217543684	217543684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctttctgcggtccttcttCactgcttcagccttcagctc	3	17	6	15	1	6	0	3	0	3	0	8	0	7	0	2	1	4	2	2	1	0	6			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:217543684C>T	ENST00000233813.4	-	2	1205	c.456G>A	c.(454-456)gtG>gtA	p.V152V		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	152					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCCTTCTTCACTGCTTCAG	0.597													29	37					0	0	0	0	T	217543684	C	T	217543684	2	4	155	1	0	0	0	0	0	0	0	1	7635	813	29	2		2	IGFBP5	2	217543684	Silent	SNP	C	TCGA-CQ-7065-01A-11D-2078-08	36713017	217543684	25655689	8	28179											
MFN1	55669	broad.mit.edu	37	chr3	179080166	179080166	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagttaatcaactggcccaTgcccttcacatggacaaaga	14	8	7	12	0	2	1	2	0	0	1	2	2	2	2	2	2	2	1	2	2	3	2			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr3:179080166T>A	ENST00000471841.1	+	5	558	c.432T>A	c.(430-432)caT>caA	p.H144Q	MFN1_ENST00000280653.7_Missense_Mutation_p.H144Q|MFN1_ENST00000263969.5_Missense_Mutation_p.H144Q	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	144					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AACTGGCCCATGCCCTTCACA	0.368													47	34					0	0	0	0	A	179080166	T	A	179080166	3	1	155	1	0	0	0	0	1	0	0	0	9592	1461	51	5	446	5	MFN1	3	179080166	Missense_Mutation	SNP	T	TCGA-CQ-7065-01A-11D-2078-08		179080166	18942264	9	28180											
TFRC	7037	broad.mit.edu	37	chr3	195789750	195789750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccattcagtggcaccaaccGatccaaagtctccagcactc	11	7	7	16	1	2	0	1	0	1	0	5	1	3	0	5	1	2	2	5	1	2	1			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr3:195789750G>A	ENST00000360110.4	-	12	1548	c.1379C>T	c.(1378-1380)tCg>tTg	p.S460L	TFRC_ENST00000420415.1_Missense_Mutation_p.S379L|TFRC_ENST00000392396.3_Missense_Mutation_p.S460L|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000465288.1_5'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.S178L	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	460					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		GGCACCAACCGATCCAAAGTC	0.448			T	BCL6	NHL								26	53					0	0	0	0	A	195789750	G	A	195789750	3	1	155	1	0	0	0	0	1	0	0	0	15906	1059	37	1	935	1	TFRC	3	195789750	Missense_Mutation	SNP	G	TCGA-CQ-7065-01A-11D-2078-08	16709584	195789750	2232680	10	28181											
SLIT2	9353	broad.mit.edu	37	chr4	20544192	20544192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggatacagtcgtccgatGtagcaacaagggtttgaagg	11	10	13	7	2	0	1	0	1	0	0	2	3	1	2	1	3	3	3	1	3	5	4			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr4:20544192G>A	ENST00000504154.1	+	21	2471	c.2219G>A	c.(2218-2220)tGt>tAt	p.C740Y	SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.C736Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.C744Y|SLIT2_ENST00000503823.1_Missense_Mutation_p.C732Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	740	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTCGTCCGATGTAGCAACAAG	0.418													92	157					0	0	0	0	A	20544192	G	A	20544192	3	1	155	1	0	0	0	0	1	0	0	0	14828	1377	48	4	2301	4	SLIT2	4	20544192	Missense_Mutation	SNP	G	TCGA-CQ-7065-01A-11D-2078-08		20544192	170610084	11	28182											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69341983	69341983	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctctcttttgcaggctgCggaacacgaagaagtaaaac	12	9	9	11	2	2	1	0	0	2	1	3	3	2	2	1	2	4	3	1	2	5	3	rs138790575	byFrequency	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr4:69341983C>T	ENST00000305363.4	+	7	598	c.534C>T	c.(532-534)tgC>tgT	p.C178C		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	178					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTGCAGGCTGCGGAACACGAA	0.488													48	78					0	0	0	0	T	69341983	C	T	69341983	2	4	155	1	0	0	0	0	0	0	0	1	16336	776	27	1		1	TMPRSS11E	4	69341983	Silent	SNP	C	TCGA-CQ-7065-01A-11D-2078-08	48797791	69341983	121812293	12	28183											
ASB5	140458	broad.mit.edu	37	chr4	177136850	177136850	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagcttcggatacagagtcgGcaaagttggtaaagagagct	13	9	13	6	2	0	2	0	0	0	2	2	4	0	3	0	3	3	5	0	3	5	5			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr4:177136850G>A	ENST00000296525.3	-	7	1004	c.891C>T	c.(889-891)tgC>tgT	p.C297C	ASB5_ENST00000512254.1_Silent_p.C244C	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	297	SOCS box.				intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TACAGAGTCGGCAAAGTTGGT	0.358													3	30					0	0	0	0	A	177136850	G	A	177136850	2	1	155	1	0	0	0	0	0	0	0	1	1030	1195	42	4		4	ASB5	4	177136850	Silent	SNP	G	TCGA-CQ-7065-01A-11D-2078-08	107794867	177136850	14017426	13	28184											
KCNN2	3781	broad.mit.edu	37	chr5	113829157	113829157	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccaagcaaacactttggtGgacttggcaaaggtaagcct	13	8	11	9	0	0	0	0	0	0	0	0	2	0	1	2	4	3	3	2	4	4	3			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:113829157G>A	ENST00000512097.3	+	8	2458	c.1440G>A	c.(1438-1440)gtG>gtA	p.V480V	KCNN2_ENST00000503706.1_Silent_p.V132V|KCNN2_ENST00000264773.3_Silent_p.V480V|KCNN2_ENST00000507750.1_3'UTR|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	480	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		ACACTTTGGTGGACTTGGCAA	0.408													8	19					0	0	0	0	A	113829157	G	A	113829157	2	1	155	1	0	0	0	0	0	0	0	1	8132	1335	47	4		4	KCNN2	5	113829157	Silent	SNP	G	TCGA-CQ-7065-01A-11D-2078-08		113829157	67086103	14	28185											
CEP120	153241	broad.mit.edu	37	chr5	122725742	122725742	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacactgttggtgattttggCccagtaagtgtcttctcctt	6	16	10	9	0	2	1	0	1	2	0	3	2	2	1	2	2	0	2	2	2	1	6			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:122725742C>T	ENST00000306467.5	-	8	1435	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	CEP120_ENST00000328236.5_Silent_p.G377G|CEP120_ENST00000306481.6_Silent_p.G351G			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	377						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GTGATTTTGGCCCAGTAAGTG	0.393													3	41					0	0	0	0	T	122725742	C	T	122725742	2	4	155	1	0	0	0	0	0	0	0	1	3275	726	26	4		4	CEP120	5	122725742	Silent	SNP	C	TCGA-CQ-7065-01A-11D-2078-08	8896585	122725742	58189518	15	28186											
PCDHA4	56144	broad.mit.edu	37	chr5	140189040	140189040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactcgcagcagaggaggccGagggtgtgctctggtgaggg	7	7	19	8	2	1	2	0	1	1	1	2	4	1	3	1	5	3	3	1	5	1	1	rs146943849	byFrequency	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:140189040G>A	ENST00000530339.1	+	1	2268	c.2268G>A	c.(2266-2268)ccG>ccA	p.P756P	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.P756P|PCDHA4_ENST00000356878.4_Silent_p.P756P|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGGCCGAGGGTGTGCT	0.652													4	56					0	0	0	0	A	140189040	G	A	140189040	2	1	155	1	0	0	0	0	0	0	0	1	11597	1045	37	1		1	PCDHA4	5	140189040	Silent	SNP	G	TCGA-CQ-7065-01A-11D-2078-08	17463298	140189040	40726220	16	28187											
PCDHA12	56137	broad.mit.edu	37	chr5	140255408	140255408	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacaggccgctgcaggttttCcatgtggacgtggaggtgaa	8	9	16	8	2	0	1	0	1	0	0	1	4	1	3	2	5	1	3	2	5	1	2			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:140255408C>T	ENST00000398631.2	+	1	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTTTTCCATGTGGACG	0.562													6	133					0	0	0	0	T	140255408	C	T	140255408	2	4	155	1	0	0	0	0	0	0	0	1	11593	854	30	2		2	PCDHA12	5	140255408	Silent	SNP	C	TCGA-CQ-7065-01A-11D-2078-08	66368	140255408	40659852	17	28188											
EPHB4	2050	broad.mit.edu	37	chr7	100420084	100420084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcacagtctccgggaatCgagtcaggttcacagtcagc	10	7	13	11	2	4	0	3	0	1	0	6	3	4	1	1	3	1	2	1	3	1	1			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr7:100420084C>T	ENST00000358173.3	-	4	1085	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.R206Q	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	206	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCCGGGAATCGAGTCAGGTT	0.652													5	14					0	0	0	0	T	100420084	C	T	100420084	3	4	155	1	0	0	0	0	1	0	0	0	5215	884	31	1	2402	1	EPHB4	7	100420084	Missense_Mutation	SNP	C	TCGA-CQ-7065-01A-11D-2078-08		100420084	58718579	18	28189											
CNBD1	168975	broad.mit.edu	37	chr8	87917339	87917339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatatcttatcagctcaCgatacatttatgaagcaata	16	12	5	8	1	3	1	2	1	1	0	3	2	3	1	0	0	4	3	0	0	8	6			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr8:87917339C>T	ENST00000518476.1	+	3	240	c.189C>T	c.(187-189)caC>caT	p.H63H		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	63										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TATCAGCTCACGATACATTTA	0.343													6	20					0	0	0	0	T	87917339	C	T	87917339	2	4	155	1	0	0	0	0	0	0	0	1	3621	535	19	1		1	CNBD1	8	87917339	Silent	SNP	C	TCGA-CQ-7065-01A-11D-2078-08		87917339	58446683	19	28190											
RBP3	5949	broad.mit.edu	37	chr10	48383918	48383918	+	Frame_Shift_Del	DEL	G	G	-																															agatcttgtccagcagaactGgagggccttcatcaaagaag																										TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr10:48383918delG	ENST00000224600.4	-	3	3427	c.3314delC	c.(3313-3315)cafs	p.P1105fs		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1105	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAGCAGAACTGGAGGGCCTTC	0.537													25	48	---	---	---	---					-	48383918	G	-	48383918	7	5	155	1	0	1	0	1	0	0	0	0	13239	1348	47	0	437	0	RBP3	10	48383918	Frame_Shift_Del	DEL	G	TCGA-CQ-7065-01A-11D-2078-08		48383918	87150829	20	28191											
SLC25A22	79751	broad.mit.edu	37	chr11	791950	791950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagccccagcagggActccgcgatgcccaggaagt	9	4	13	15	2	0	0	0	0	0	0	1	3	1	2	4	2	5	3	4	2	1	0			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr11:791950A>G	ENST00000320230.5	-	10	1418	c.937T>C	c.(937-939)Tcc>Ccc	p.S313P	SLC25A22_ENST00000531214.1_Missense_Mutation_p.S313P	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	313						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	CCCAGCAGGGACTCCGCGATG	0.716													12	15					0	0	0	0	G	791950	A	G	791950	3	3	155	1	0	0	0	0	1	0	0	0	14573	275	10	5	38	5	SLC25A22	11	791950	Missense_Mutation	SNP	A	TCGA-CQ-7065-01A-11D-2078-08		791950	134214566	21	28192											
KCNJ1	3758	broad.mit.edu	37	chr11	128710112	128710112	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccaaaaaagcgagtgacGacccatttccgaagatgttt	13	9	9	10	3	0	2	0	1	0	1	1	5	1	2	3	0	2	1	3	0	4	2			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr11:128710112G>A	ENST00000392665.2	-	2	171	c.27C>T	c.(25-27)gtC>gtT	p.V9V	KCNJ1_ENST00000324036.3_Silent_p.V9V|KCNJ1_ENST00000392666.1_Silent_p.V9V|KCNJ1_ENST00000392664.2_Silent_p.V28V|KCNJ1_ENST00000440599.2_Silent_p.V9V	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	28					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	AGCGAGTGACGACCCATTTCC	0.408													36	122					0	0	0	0	A	128710112	G	A	128710112	2	1	155	1	0	0	0	0	0	0	0	1	8096	1045	37	1		1	KCNJ1	11	128710112	Silent	SNP	G	TCGA-CQ-7065-01A-11D-2078-08	127918162	128710112	6296404	22	28193											
KRT5	3852	broad.mit.edu	37	chr12	52911705	52911706	+	Frame_Shift_Ins	INS	-	-	T																															caaagaacatcttcatgaagINSttaatctcatccatcagtgc																										TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr12:52911705_52911706insT	ENST00000252242.4	-	4	1292_1293	c.902_903insA	c.(901-903)attfs	p.I301fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	301	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTCATGAAGTTAATCTCATC	0.421													39	78	---	---	---	---					T	52911706	-	T	52911705	7	5	155	1	0	1	1	0	0	0	0	0	8531	1020	36	0	893	0	KRT5	12	52911705	Frame_Shift_Ins	INS	-	TCGA-CQ-7065-01A-11D-2078-08		52911705	80940190	23	28194											
ITGA7	3679	broad.mit.edu	37	chr12	56079057	56079057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcggggtgcttcgcccGtttgaagaatcccatctata	7	11	11	12	3	1	2	0	1	1	1	4	2	2	2	3	3	1	2	3	3	4	4			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr12:56079057G>A	ENST00000257879.6	-	25	3414	c.3199C>T	c.(3199-3201)Cgg>Tgg	p.R1067W	ITGA7_ENST00000452168.2_Missense_Mutation_p.R974W|ITGA7_ENST00000394229.2_Silent_p.N1104N|ITGA7_ENST00000394230.2_Silent_p.N1108N|ITGA7_ENST00000347027.6_Missense_Mutation_p.R1061W|ITGA7_ENST00000555728.1_Missense_Mutation_p.R1111W|ITGA7_ENST00000257880.7_Silent_p.N1148N|ITGA7_ENST00000553804.1_Missense_Mutation_p.R1071W	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN	integrin, alpha 7	1111					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGCTTCGCCCGTTTGAAGAAT	0.607													17	26					0	0	0	0	A	56079057	G	A	56079057	3	1	155	1	0	0	0	0	1	0	0	0	7934	1144	40	1	218	1	ITGA7	12	56079057	Missense_Mutation	SNP	G	TCGA-CQ-7065-01A-11D-2078-08	3167352	56079057	77772838	24	28195											
ARHGAP9	64333	broad.mit.edu	37	chr12	57871047	57871047	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcccctccatggagccAgggttctgggttaggggagg	5	10	17	9	0	1	0	0	0	1	0	3	2	3	2	4	6	1	2	4	6	1	2			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr12:57871047A>T	ENST00000393797.2	-	8	1167	c.975T>A	c.(973-975)ccT>ccA	p.P325P	ARHGAP9_ENST00000550288.1_Silent_p.P333P|ARHGAP9_ENST00000393791.3_Silent_p.P254P|ARHGAP9_ENST00000430041.2_Silent_p.P70P|ARHGAP9_ENST00000356411.2_Silent_p.P254P|ARHGAP9_ENST00000424809.2_Silent_p.P254P|ARHGAP9_ENST00000550454.1_5'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	254	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCATGGAGCCAGGGTTCTGGG	0.527													14	36					0	0	0	0	T	57871047	A	T	57871047	2	4	155	1	0	0	0	0	0	0	0	1	891	175	7	5		5	ARHGAP9	12	57871047	Silent	SNP	A	TCGA-CQ-7065-01A-11D-2078-08	1791990	57871047	75980848	25	28196											
FRY	10129	broad.mit.edu	37	chr13	32783208	32783208	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctctccagaagccacgTcactggtcctgaacaacctc	9	7	10	15	1	2	2	1	1	1	1	5	2	3	2	4	3	3	1	4	3	3	0			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr13:32783208T>C	ENST00000380250.3	+	32	4733	c.4237T>C	c.(4237-4239)Tca>Cca	p.S1413P		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGAAGCCACGTCACTGGTCCT	0.542													29	23					0	0	0	0	C	32783208	T	C	32783208	3	2	155	1	0	0	0	0	1	0	0	0	6111	1667	58	5	4363	5	FRY	13	32783208	Missense_Mutation	SNP	T	TCGA-CQ-7065-01A-11D-2078-08		32783208	82386670	26	28197											
CARKD	55739	broad.mit.edu	37	chr13	111279875	111279875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgggtagagatgatgCgcttctcagaaatgtccagg	9	11	14	7	1	1	3	1	1	1	2	3	4	2	3	1	3	1	3	1	3	2	3	rs143742316		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr13:111279875C>T	ENST00000309957.2	+	5	490	c.476C>T	c.(475-477)gCg>gTg	p.A159V	CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000397191.4_Missense_Mutation_p.A96V|CARKD_ENST00000458711.2_Intron|CARKD_ENST00000424185.2_Missense_Mutation_p.A49V	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	159	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						AGAGATGATGCGCTTCTCAGA	0.507													3	49					0	0	0	0	T	111279875	C	T	111279875	3	4	155	1	0	0	0	0	1	0	0	0	2679	768	27	1	494	1	CARKD	13	111279875	Missense_Mutation	SNP	C	TCGA-CQ-7065-01A-11D-2078-08	78496667	111279875	3890003	27	28198											
OR4Q3	441669	broad.mit.edu	37	chr14	20216210	20216210	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacagtggtctgctgtcTcttgtctgcttcttggtctt	3	17	10	11	0	5	0	0	0	5	0	6	0	5	0	1	2	3	2	1	2	1	4			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr14:20216210T>C	ENST00000331723.1	+	1	624	c.624T>C	c.(622-624)tcT>tcC	p.S208S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCTGCTGTCTCTTGTCTGCT	0.493													18	39					0	0	0	0	C	20216210	T	C	20216210	2	2	155	1	0	0	0	0	0	0	0	1	11152	1538	54	5		5	OR4Q3	14	20216210	Silent	SNP	T	TCGA-CQ-7065-01A-11D-2078-08		20216210	87133330	28	28199											
PPP4C	5531	broad.mit.edu	37	chr16	30096327	30096327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcatcatctttgaggctgctCcccaagagacacggggcatc	9	9	10	13	1	3	2	2	1	1	1	5	3	4	2	2	3	1	3	2	3	1	1			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr16:30096327C>T	ENST00000279387.7	+	9	1036	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S	PPP4C_ENST00000561610.1_Missense_Mutation_p.P290S	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	290					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						TGAGGCTGCTCCCCAAGAGAC	0.632													41	67					0	0	0	0	T	30096327	C	T	30096327	3	4	155	1	0	0	0	0	1	0	0	0	12478	855	30	2	898	2	PPP4C	16	30096327	Missense_Mutation	SNP	C	TCGA-CQ-7065-01A-11D-2078-08		30096327	60258426	29	28200											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr17:7578394T>G	ENST00000420246.2	-	5	668	c.536A>C	c.(535-537)cAt>cCt	p.H179P	TP53_ENST00000359597.4_Missense_Mutation_p.H179P|TP53_ENST00000413465.2_Missense_Mutation_p.H179P|TP53_ENST00000455263.2_Missense_Mutation_p.H179P|TP53_ENST00000445888.2_Missense_Mutation_p.H179P|TP53_ENST00000269305.4_Missense_Mutation_p.H179P|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	37					0	0	0	0	G	7578394	T	G	7578394	3	3	155	1	0	0	0	0	1	0	0	0	16476	1464	51	5	762	5	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-CQ-7065-01A-11D-2078-08		7578394	73616816	30	28201											
SLC47A1	55244	broad.mit.edu	37	chr17	19459314	19459314	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcttcaccaggcatccTcggcatggtggagctgggcg	5	11	13	12	2	3	0	1	0	2	0	5	1	4	1	2	5	1	3	2	5	0	2			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr17:19459314T>C	ENST00000270570.4	+	10	946	c.860T>C	c.(859-861)cTc>cCc	p.L287P	SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000542886.1_3'UTR|SLC47A1_ENST00000571335.1_Missense_Mutation_p.L92P|SLC47A1_ENST00000436810.2_Missense_Mutation_p.L264P|SLC47A1_ENST00000395585.1_Missense_Mutation_p.L287P|SLC47A1_ENST00000457293.1_Missense_Mutation_p.L287P	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	287						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CCAGGCATCCTCGGCATGGTG	0.592													21	31					0	0	0	0	C	19459314	T	C	19459314	3	2	155	1	0	0	0	0	1	0	0	0	14735	1551	54	5	898	5	SLC47A1	17	19459314	Missense_Mutation	SNP	T	TCGA-CQ-7065-01A-11D-2078-08	11880920	19459314	61735896	31	28202											
MUC16	94025	broad.mit.edu	37	chr19	9085093	9085093	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatactctcagccccatctGaaggtgtgtcaattacatct	11	12	7	11	0	4	1	2	1	3	0	5	2	4	1	2	1	3	0	2	1	5	2			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr19:9085093G>T	ENST00000397910.4	-	1	6925	c.6722C>A	c.(6721-6723)tCa>tAa	p.S2241*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2241	Ser-rich.|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						AGCCCCATCTGAAGGTGTGTC	0.468													13	24					0.000151284	0.000162922	1	0	T	9085093	G	T	9085093	4	4	155	1	0	0	0	0	0	1	0	0	10043	1294	45	2	37137	2	MUC16	19	9085093	Nonsense_Mutation	SNP	G	TCGA-CQ-7065-01A-11D-2078-08		9085093	50043890	32	28203											
GSK3A	2931	broad.mit.edu	37	chr19	42740862	42740862	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagatttaggtaaagctCgtctttctgcagggagcaaa	12	10	10	9	1	2	1	0	0	2	1	3	2	2	2	1	2	3	4	1	2	4	4			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr19:42740862C>A	ENST00000398249.4	-	3	2029	c.316G>T	c.(316-318)Gag>Tag	p.E106*	AC006486.9_ENST00000594664.1_Nonsense_Mutation_p.E101*|GSK3A_ENST00000222330.3_Nonsense_Mutation_p.E188*			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	188					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	p.E188*(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				AGGTAAAGCTCGTCTTTCTGC	0.562													4	90					0.150653	0.156233	1	0	A	42740862	C	A	42740862	4	1	155	1	0	0	0	0	0	1	0	0	6873	893	31	3	921	3	GSK3A	19	42740862	Nonsense_Mutation	SNP	C	TCGA-CQ-7065-01A-11D-2078-08	33655769	42740862	16388121	33	28204											
MAGEB2	4113	broad.mit.edu	37	chrX	30236705	30236705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacccagccatcatgcctcGtggtcagaagagtaagctcc	10	9	9	13	1	2	2	2	0	0	2	4	2	3	2	4	1	4	2	4	1	3	2			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:30236705G>A	ENST00000378988.4	+	2	109	c.8G>A	c.(7-9)cGt>cAt	p.R3H		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	3							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						ATCATGCCTCGTGGTCAGAAG	0.527													28	5					0	0	0	0	A	30236705	G	A	30236705	3	1	155	1	0	0	0	0	1	0	0	0	9245	1145	40	1	10	1	MAGEB2	23	30236705	Missense_Mutation	SNP	G	TCGA-CQ-7065-01A-11D-2078-08		30236705	125033855	34	28205											
MAGEC3	139081	broad.mit.edu	37	chrX	140985590	140985590	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagtgcaagccccagtgTcatgtccaccaacttctgtc	8	9	9	15	0	2	0	1	0	1	0	4	0	3	0	5	1	3	1	5	1	2	1			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:140985590T>C	ENST00000298296.1	+	8	1904	c.1904T>C	c.(1903-1905)gTc>gCc	p.V635A	MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	635	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCAGTGTCATGTCCACC	0.517													24	43					0	0	0	0	C	140985590	T	C	140985590	3	2	155	1	0	0	0	0	1	0	0	0	9251	1667	58	5	2301	5	MAGEC3	23	140985590	Missense_Mutation	SNP	T	TCGA-CQ-7065-01A-11D-2078-08	110748885	140985590	14284970	35	28206											
MAGEC1	9947	broad.mit.edu	37	chrX	140994879	140994879	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactccctatctcctcactaCtttcctcagagccctcctca	7	12	3	19	0	4	1	3	0	1	1	8	2	7	1	5	0	2	0	5	0	2	3			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:140994879C>G	ENST00000285879.4	+	4	1975	c.1689C>G	c.(1687-1689)taC>taG	p.Y563*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	563							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCACTACTTTCCTCAGA	0.572										HNSCC(15;0.026)			12	457					0	0	0	0	G	140994879	C	G	140994879	4	3	155	1	0	0	0	0	0	1	0	0	9249	576	20	4	1695	4	MAGEC1	23	140994879	Nonsense_Mutation	SNP	C	TCGA-CQ-7065-01A-11D-2078-08	9289	140994879	14275681	36	28207											
G6PD	2539	broad.mit.edu	37	chrX	153763390	153763390	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaagccttacatctggcTcatgcaggactcgtgaatgt	9	10	11	11	2	2	1	1	1	1	0	3	2	2	2	1	3	3	3	1	3	3	1			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:153763390T>G	ENST00000393562.2	-	5	951	c.568A>C	c.(568-570)Agc>Cgc	p.S190R	G6PD_ENST00000369620.2_Missense_Mutation_p.S160R|G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000393564.2_Missense_Mutation_p.S160R	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	160					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACATCTGGCTCATGCAGGAC	0.652													43	40					0	0	0	0	G	153763390	T	G	153763390	3	3	155	1	0	0	0	0	1	0	0	0	6194	1551	54	5	1105	5	G6PD	23	153763390	Missense_Mutation	SNP	T	TCGA-CQ-7065-01A-11D-2078-08	12768511	153763390	1507170	37	28208											
SLFNL1	200172	broad.mit.edu	37	chr1	41486124	41486124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatctccagccgctccaggGtgtctcgcagcaggcaggca	7	6	13	15	2	2	0	0	0	2	0	5	0	3	0	3	3	2	6	3	3	0	0			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:41486124G>A	ENST00000359345.1	-	1	2785	c.209C>T	c.(208-210)aCc>aTc	p.T70I	SLFNL1_ENST00000439569.2_Missense_Mutation_p.T70I|SLFNL1_ENST00000397197.2_Missense_Mutation_p.T70I|SLFNL1_ENST00000372611.1_Missense_Mutation_p.T70I|SLFNL1_ENST00000372613.2_Missense_Mutation_p.T70I|SLFNL1_ENST00000302946.8_Missense_Mutation_p.T70I	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	70							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CCGCTCCAGGGTGTCTCGCAG	0.647													46	77					0	0	0	0	A	41486124	G	A	41486124	3	1	156	1	0	0	0	0	1	0	0	0	14826	1261	44	4	1030	4	SLFNL1	1	41486124	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08		41486124	207764497	1	28209											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507481	74507481	+	Frame_Shift_Del	DEL	A	A	-																															attggctgaggatatgcaggAaaaaaatgttgttttttctc																										TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:74507481delA	ENST00000354431.4	-	7	1325	c.1134delT	c.(1132-1134)ttfs	p.F378fs	LRRIQ3_ENST00000395089.1_Frame_Shift_Del_p.F378fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	378								p.P379fs*26(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GATATGCAGGAAAAAAATGTT	0.348													12	65	---	---	---	---					-	74507481	A	-	74507481	7	5	156	1	0	1	0	1	0	0	0	0	9094	243	9	0	748	0	LRRIQ3	1	74507481	Frame_Shift_Del	DEL	A	TCGA-CQ-7067-01A-11D-2229-08	33021357	74507481	174743140	2	28210											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334188	77334188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccgcccgcagcgccatGgtctggcagtgtgtttagcg	4	8	14	15	5	1	0	0	0	1	0	1	0	1	0	4	2	2	3	4	2	1	2			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:77334188G>T	ENST00000477717.1	+	2	257	c.22G>T	c.(22-24)Ggt>Tgt	p.G8C	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	8					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCAGCGCCATGGTCTGGCAGT	0.667													7	29					8.12818e-05	8.55598e-05	1	0	T	77334188	G	T	77334188	3	4	156	1	0	0	0	0	1	0	0	0	15317	1348	47	4	28	4	ST6GALNAC5	1	77334188	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	2826707	77334188	171916433	3	28211											
GBP6	163351	broad.mit.edu	37	chr1	89846074	89846074	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagccaatattgagaaggTgtcagaaaagcaactggatc	15	9	10	7	0	2	2	1	1	1	2	3	4	2	3	1	2	3	1	1	2	7	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:89846074T>G	ENST00000370456.4	+	6	848	c.755T>G	c.(754-756)gTg>gGg	p.V252G	GBP6_ENST00000535065.1_Missense_Mutation_p.V122G	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	252							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATTGAGAAGGTGTCAGAAAAG	0.443													8	24					0	0	0	0	G	89846074	T	G	89846074	3	3	156	1	0	0	0	0	1	0	0	0	6327	1696	59	5	773	5	GBP6	1	89846074	Missense_Mutation	SNP	T	TCGA-CQ-7067-01A-11D-2229-08	12511886	89846074	159404547	4	28212											
GSTM2	2946	broad.mit.edu	37	chr1	110217448	110217448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacaaagatggctgtctgggGcaacaagtagggccttgaag	12	7	14	8	0	1	2	0	1	1	1	1	2	1	2	1	4	1	3	1	4	5	2			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:110217448G>A	ENST00000241337.4	+	8	697	c.647G>A	c.(646-648)gGc>gAc	p.G216D	GSTM2_ENST00000369827.3_Missense_Mutation_p.G177D|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000460717.3_Intron	NM_000848.3	NP_000839.1			glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		GCTGTCTGGGGCAACAAGTAG	0.587													12	70					0	0	0	0	A	110217448	G	A	110217448	3	1	156	1	0	0	0	0	1	0	0	0	6888	1203	42	4	677	4	GSTM2	1	110217448	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	20371374	110217448	139033173	5	28213											
ZNF687	57592	broad.mit.edu	37	chr1	151261985	151261985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcttgtcctctgctctttgCccaaaaaaggaccatgctgg	8	12	9	12	0	3	0	0	0	3	0	4	1	4	1	3	2	3	2	3	2	3	2			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:151261985C>T	ENST00000368879.2	+	5	2701	c.2603C>T	c.(2602-2604)gCc>gTc	p.A868V		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	868					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCTCTTTGCCCAAAAAAGG	0.547													23	53					0	0	0	0	T	151261985	C	T	151261985	3	4	156	1	0	0	0	0	1	0	0	0	18187	739	26	4	2617	4	ZNF687	1	151261985	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	41044537	151261985	97988636	6	28214											
RYR2	6262	broad.mit.edu	37	chr1	237754082	237754082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggaggtcttctccaagaCggtggctggagggctccctg	5	8	16	12	3	2	1	0	0	2	1	4	3	3	3	2	6	0	2	2	6	1	1			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:237754082C>T	ENST00000366574.2	+	31	4267	c.3950C>T	c.(3949-3951)aCg>aTg	p.T1317M	RYR2_ENST00000360064.6_Missense_Mutation_p.T1315M|RYR2_ENST00000542537.1_Missense_Mutation_p.T1301M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1317	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTCCAAGACGGTGGCTGGA	0.502													57	82					0	0	0	0	T	237754082	C	T	237754082	3	4	156	1	0	0	0	0	1	0	0	0	13854	536	19	1	4072	1	RYR2	1	237754082	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	86492097	237754082	11496539	7	28215											
RYR2	6262	broad.mit.edu	37	chr1	237947222	237947222	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatttcttttgtcttgtgcGgagacggatgagaatgaaac	11	13	12	5	2	2	3	0	2	2	2	2	7	2	4	0	2	2	0	0	2	3	4			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:237947222G>A	ENST00000366574.2	+	90	12527	c.12210G>A	c.(12208-12210)gcG>gcA	p.A4070A	RYR2_ENST00000360064.6_Silent_p.A4076A|RYR2_ENST00000542537.1_Silent_p.A4054A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4070					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A4068A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTCTTGTGCGGAGACGGATG	0.512													4	21					0	0	0	0	A	237947222	G	A	237947222	2	1	156	1	0	0	0	0	0	0	0	1	13854	1103	39	1		1	RYR2	1	237947222	Silent	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	193140	237947222	11303399	8	28216											
SLC5A7	60482	broad.mit.edu	37	chr2	108622601	108622601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttcctggcagctttcGggtgcctggtgatggccatc	3	13	13	12	1	0	1	0	1	0	0	4	1	2	1	4	4	2	2	4	4	0	2			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr2:108622601G>A	ENST00000264047.2	+	7	1114	c.838G>A	c.(838-840)Ggg>Agg	p.G280R	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G175R|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G280R	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	280					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGCAGCTTTCGGGTGCCTGGT	0.522													15	47					0	0	0	0	A	108622601	G	A	108622601	3	1	156	1	0	0	0	0	1	0	0	0	14758	1116	39	1	860	1	SLC5A7	2	108622601	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08		108622601	134576772	9	28217											
SCN3A	6328	broad.mit.edu	37	chr2	165987867	165987867	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagccttcttggaaatagtAataaggatccatggcaatga	14	10	9	8	0	1	1	0	1	1	0	2	3	2	3	3	3	1	2	3	3	5	5			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr2:165987867A>G	ENST00000360093.3	-	16	2943	c.2452T>C	c.(2452-2454)Tac>Cac	p.Y818H	SCN3A_ENST00000409101.3_Missense_Mutation_p.Y769H|SCN3A_ENST00000283254.7_Missense_Mutation_p.Y818H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	818						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGGAAATAGTAATAAGGATCC	0.398													14	55					0	0	0	0	G	165987867	A	G	165987867	3	3	156	1	0	0	0	0	1	0	0	0	14005	362	13	5	3602	5	SCN3A	2	165987867	Missense_Mutation	SNP	A	TCGA-CQ-7067-01A-11D-2229-08	57365266	165987867	77211506	10	28218											
SCN1A	6323	broad.mit.edu	37	chr2	166900348	166900348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatccgggatgacctactgGtctgactcaggttgctgttg	6	12	13	10	1	2	2	1	2	1	0	3	3	3	3	2	3	2	4	2	3	1	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr2:166900348G>A	ENST00000423058.2	-	11	1891	c.1874C>T	c.(1873-1875)aCc>aTc	p.T625I	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.T625I|SCN1A_ENST00000303395.4_Missense_Mutation_p.T625I|SCN1A_ENST00000375405.3_Missense_Mutation_p.T625I|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	625						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGACCTACTGGTCTGACTCAG	0.532													7	36					0	0	0	0	A	166900348	G	A	166900348	3	1	156	1	0	0	0	0	1	0	0	0	14001	1261	44	4	4219	4	SCN1A	2	166900348	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	912481	166900348	76299025	11	28219											
SCN1A	6323	broad.mit.edu	37	chr2	166911191	166911191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagccagttccatggatcccGaaggaaagtaaaatcttcta	14	9	9	9	1	2	0	0	0	2	0	4	4	4	2	3	2	1	2	3	2	5	4			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr2:166911191G>A	ENST00000423058.2	-	4	576	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R187W|SCN1A_ENST00000303395.4_Missense_Mutation_p.R187W|SCN1A_ENST00000375405.3_Missense_Mutation_p.R187W|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	187						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATGGATCCCGAAGGAAAGTA	0.353													6	30					0	0	0	0	A	166911191	G	A	166911191	3	1	156	1	0	0	0	0	1	0	0	0	14001	1057	37	1	5562	1	SCN1A	2	166911191	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	10843	166911191	76288182	12	28220											
HSPE1	3336	broad.mit.edu	37	chr2	198367787	198367787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagattcaaccagttagcGtgaaagttggagataaagtt	15	10	12	4	1	1	3	1	1	0	2	1	6	1	3	1	1	2	3	1	1	5	5			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr2:198367787G>A	ENST00000233893.5	+	3	636	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409729.1_Missense_Mutation_p.V10M|HSPE1_ENST00000409468.1_Missense_Mutation_p.V65M|HSPE1_ENST00000465573.1_3'UTR	NM_002157.2	NP_002148.1			heat shock 10kDa protein 1											lung(1)	1			Epithelial(96;0.225)			ACCAGTTAGCGTGAAAGTTGG	0.348													3	54					0	0	0	0	A	198367787	G	A	198367787	3	1	156	1	0	0	0	0	1	0	0	0	7482	1145	40	1	203	1	HSPE1	2	198367787	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	31456596	198367787	44831586	13	28221											
MGST2	4258	broad.mit.edu	37	chr4	140624623	140624623	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatagtttttgctacttgtCtgggtctggtgtacatatat	7	19	9	6	0	2	0	0	0	2	0	2	0	2	0	0	2	3	3	0	2	6	9			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr4:140624623C>G	ENST00000265498.1	+	4	496	c.244C>G	c.(244-246)Ctg>Gtg	p.L82V	MGST2_ENST00000506797.1_Missense_Mutation_p.S58C|MGST2_ENST00000515137.1_3'UTR	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN	microsomal glutathione S-transferase 2	82					glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	TGCTACTTGTCTGGGTCTGGT	0.393													4	33					0	0	0	0	G	140624623	C	G	140624623	3	3	156	1	0	0	0	0	1	0	0	0	9630	912	32	2	258	2	MGST2	4	140624623	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08		140624623	50529653	14	28222											
DNAH5	1767	broad.mit.edu	37	chr5	13776796	13776796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatttcatcaatttcatctCgagcaaataggttagagacc	14	13	6	8	1	4	1	3	0	1	1	5	3	4	1	1	1	1	2	1	1	5	5			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr5:13776796C>T	ENST00000265104.4	-	55	9229	c.9125G>A	c.(9124-9126)cGa>cAa	p.R3042Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3042	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3042Q(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATTTCATCTCGAGCAAATAG	0.383									Kartagener syndrome				10	74					0	0	0	0	T	13776796	C	T	13776796	3	4	156	1	0	0	0	0	1	0	0	0	4641	884	31	1	4849	1	DNAH5	5	13776796	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08		13776796	167138464	15	28223											
HOMER1	9456	broad.mit.edu	37	chr5	78742906	78742906	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtactggtaagttccatcttCtcttgtgatttttcctttgc	5	20	7	9	0	2	1	0	1	2	0	5	1	4	1	2	1	2	3	2	1	2	8			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr5:78742906C>G	ENST00000334082.6	-	4	1799	c.357G>C	c.(355-357)gaG>gaC	p.E119D	HOMER1_ENST00000508576.1_Missense_Mutation_p.E119D|HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000535690.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	119					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GTTCCATCTTCTCTTGTGATT	0.333													9	21					0	0	0	0	G	78742906	C	G	78742906	3	3	156	1	0	0	0	0	1	0	0	0	7328	912	32	2	731	2	HOMER1	5	78742906	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	64966110	78742906	102172354	16	28224											
GEMIN5	25929	broad.mit.edu	37	chr5	154270961	154270961	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagttctctgtgagttttGgagactggcatgcttttctg	7	16	11	7	0	2	2	0	1	2	1	3	3	2	2	0	2	2	4	0	2	1	5	rs145603479	by1000genomes	TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr5:154270961G>C	ENST00000285873.7	-	26	4177	c.4102C>G	c.(4102-4104)Caa>Gaa	p.Q1368E		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1368					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGTGAGTTTTGGAGACTGGCA	0.453													8	88					0	0	0	0	C	154270961	G	C	154270961	3	2	156	1	0	0	0	0	1	0	0	0	6382	1357	47	4	436	4	GEMIN5	5	154270961	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	75528055	154270961	26644299	17	28225											
MDC1	9656	broad.mit.edu	37	chr6	30672646	30672646	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggtcttcacagaggacctAtttgtcctgcccctggtggc	5	11	13	12	0	2	1	1	0	1	1	3	2	3	2	4	5	1	0	4	5	1	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr6:30672646A>C	ENST00000376406.3	-	10	4961	c.4314T>G	c.(4312-4314)aaT>aaG	p.N1438K	MDC1_ENST00000376405.2_Missense_Mutation_p.N1174K|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1438	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CAGAGGACCTATTTGTCCTGC	0.587								Other conserved DNA damage response genes					29	130					0	0	0	0	C	30672646	A	C	30672646	3	2	156	1	0	0	0	0	1	0	0	0	9472	446	16	5	1979	5	MDC1	6	30672646	Missense_Mutation	SNP	A	TCGA-CQ-7067-01A-11D-2229-08		30672646	140442421	18	28226											
STK38	11329	broad.mit.edu	37	chr6	36464524	36464524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagattctggaaactcatCgaagtttgaggtatcatcaa	14	12	8	7	1	5	2	4	1	1	1	6	4	5	3	0	2	1	2	0	2	4	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr6:36464524C>T	ENST00000229812.7	-	13	1516	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	411	AGC-kinase C-terminal.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAAACTCATCGAAGTTTGAG	0.383													3	32					0	0	0	0	T	36464524	C	T	36464524	3	4	156	1	0	0	0	0	1	0	0	0	15393	884	31	1	174	1	STK38	6	36464524	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	5791878	36464524	134650543	19	28227											
KIAA1244	57221	broad.mit.edu	37	chr6	138584716	138584716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaggaggtggacaccgCtctgcagaactttgcctcta	9	10	12	10	1	2	2	0	0	2	2	2	4	2	4	2	3	3	3	2	3	3	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr6:138584716C>T	ENST00000251691.4	+	12	2262	c.2096C>T	c.(2095-2097)gCt>gTt	p.A699V		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	699	SEC7.				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)		GTGGACACCGCTCTGCAGAAC	0.507													14	62					0	0	0	0	T	138584716	C	T	138584716	3	4	156	1	0	0	0	0	1	0	0	0	8268	797	28	4	2142	4	KIAA1244	6	138584716	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	102120192	138584716	32530351	20	28228											
KBTBD2	25948	broad.mit.edu	37	chr7	32909544	32909544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcatcacataaatgcagtCatgaaccacaactgctgcac	14	9	6	12	0	3	1	3	1	0	0	3	1	3	1	1	0	5	3	1	0	4	1			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr7:32909544C>T	ENST00000304056.4	-	4	1984	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	429										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TAAATGCAGTCATGAACCACA	0.463													23	65					0	0	0	0	T	32909544	C	T	32909544	3	4	156	1	0	0	0	0	1	0	0	0	8046	826	29	2	590	2	KBTBD2	7	32909544	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08		32909544	126229119	21	28229											
GPR141	353345	broad.mit.edu	37	chr7	37780629	37780629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgatggtgcagaagctaCgccactctttactatcccac	9	12	8	12	1	1	2	0	1	1	1	2	2	2	2	2	1	4	3	2	1	4	5			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr7:37780629C>T	ENST00000447769.1	+	4	923	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R212C			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	212						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCAGAAGCTACGCCACTCTTT	0.413													32	89					0	0	0	0	T	37780629	C	T	37780629	3	4	156	1	0	0	0	0	1	0	0	0	6698	536	19	1	636	1	GPR141	7	37780629	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	4871085	37780629	121358034	22	28230											
GLI3	2737	broad.mit.edu	37	chr7	42262781	42262781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcacatctgttcgagtGgagcacttcactatggaatt	9	13	9	10	2	3	0	2	0	1	0	5	3	3	2	0	2	1	3	0	2	2	4			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr7:42262781G>A	ENST00000395925.3	-	2	156	c.72C>T	c.(70-72)tcC>tcT	p.S24S	GLI3_ENST00000437480.1_Silent_p.S24S	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	24					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGTTCGAGTGGAGCACTTCA	0.502									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				44	89					0	0	0	0	A	42262781	G	A	42262781	2	1	156	1	0	0	0	0	0	0	0	1	6490	1335	47	4		4	GLI3	7	42262781	Silent	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	4482152	42262781	116875882	23	28231											
ABCB4	5244	broad.mit.edu	37	chr7	87051439	87051439	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatcatgggtacctacctGaaggaagaaagtaaaaaaag	20	6	9	6	0	1	2	1	1	0	1	1	3	1	3	2	2	2	2	2	2	10	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr7:87051439G>A	ENST00000265723.4	-	18	2425	c.2314C>T	c.(2314-2316)Cag>Tag	p.Q772*	ABCB4_ENST00000358400.3_Nonsense_Mutation_p.Q772*|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.Q772*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.Q772*|ABCB4_ENST00000359206.3_Nonsense_Mutation_p.Q772*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	772	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTACCTACCTGAAGGAAGAAA	0.323													5	14					0	0	0	0	A	87051439	G	A	87051439	4	1	156	1	0	0	0	0	0	1	0	0	43	1299	45	2	1590	2	ABCB4	7	87051439	Nonsense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	44788658	87051439	72087224	24	28232											
SPAM1	6677	broad.mit.edu	37	chr7	123594394	123594394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttgtggaatgaaagcaCtgctctttacccatccattt	9	14	8	10	0	1	1	0	1	1	0	2	2	2	2	2	2	3	3	2	2	3	4			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr7:123594394C>T	ENST00000340011.5	+	3	1127	c.770C>T	c.(769-771)aCt>aTt	p.T257I	SPAM1_ENST00000439500.1_Missense_Mutation_p.T257I|SPAM1_ENST00000223028.7_Missense_Mutation_p.T257I|SPAM1_ENST00000460182.1_Missense_Mutation_p.T257I|SPAM1_ENST00000402183.2_Missense_Mutation_p.T257I	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	257					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AATGAAAGCACTGCTCTTTAC	0.413													23	43					0	0	0	0	T	123594394	C	T	123594394	3	4	156	1	0	0	0	0	1	0	0	0	15076	565	20	4	772	4	SPAM1	7	123594394	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	36542955	123594394	35544269	25	28233											
DLC1	10395	broad.mit.edu	37	chr8	12952314	12952314	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtttgttcgtcattagTggctcaggaagatctcgaaa	11	12	12	6	2	3	2	2	0	1	2	5	5	3	3	0	2	0	3	0	2	3	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr8:12952314T>A	ENST00000276297.4	-	12	3889	c.3480A>T	c.(3478-3480)ccA>ccT	p.P1160P	DLC1_ENST00000520226.1_Silent_p.P649P|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.P723P|DLC1_ENST00000512044.2_Silent_p.P757P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1160	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCGTCATTAGTGGCTCAGGAA	0.438													5	26					0	0	0	0	A	12952314	T	A	12952314	2	1	156	1	0	0	0	0	0	0	0	1	4587	1683	59	5		5	DLC1	8	12952314	Silent	SNP	T	TCGA-CQ-7067-01A-11D-2229-08		12952314	133411708	26	28234											
HGSNAT	138050	broad.mit.edu	37	chr8	43002090	43002090	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttcctaatttctaccaGacttagacaaaaaaagacat	17	12	3	9	0	1	3	0	0	1	3	2	3	2	3	2	0	1	0	2	0	6	6			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr8:43002090G>T	ENST00000458501.2	+	2	202		c.e2-1		HGSNAT_ENST00000379644.4_Splice_Site			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase						lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATTTCTACCAGACTTAGACAA	0.388													4	13					0.150653	0.150653	1	0	T	43002090	G	T	43002090	5	4	156	1	0	0	0	0	0	0	1	0	7138	956	33	2	124	2	HGSNAT	8	43002090	Splice_Site	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	30049776	43002090	103361932	27	28235											
TRHR	7201	broad.mit.edu	37	chr8	110100286	110100286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgatatcctgtggctacaAgatctccaggaattactact	11	13	8	9	0	1	2	0	1	1	1	3	3	2	3	2	2	3	1	2	2	6	4			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr8:110100286A>G	ENST00000518632.1	+	2	896	c.545A>G	c.(544-546)aAg>aGg	p.K182R	TRHR_ENST00000311762.2_Missense_Mutation_p.K182R			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	182						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TGTGGCTACAAGATCTCCAGG	0.418													6	42					0	0	0	0	G	110100286	A	G	110100286	3	3	156	1	0	0	0	0	1	0	0	0	16575	72	3	5	547	5	TRHR	8	110100286	Missense_Mutation	SNP	A	TCGA-CQ-7067-01A-11D-2229-08	67098196	110100286	36263736	28	28236											
PKHD1L1	93035	broad.mit.edu	37	chr8	110445406	110445406	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagttcagctgtaacagtcTcagttggaccagtaggttgt	9	13	11	8	0	2	0	2	0	1	0	3	1	2	1	1	2	2	6	1	2	3	6			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr8:110445406T>A	ENST00000378402.5	+	28	3405	c.3301T>A	c.(3301-3303)Tca>Aca	p.S1101T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1101	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGTAACAGTCTCAGTTGGACC	0.348										HNSCC(38;0.096)			51	131					0	0	0	0	A	110445406	T	A	110445406	3	1	156	1	0	0	0	0	1	0	0	0	12044	1551	54	5	3411	5	PKHD1L1	8	110445406	Missense_Mutation	SNP	T	TCGA-CQ-7067-01A-11D-2229-08	345120	110445406	35918616	29	28237											
MTSS1	9788	broad.mit.edu	37	chr8	125565241	125565241	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttgtgaacctaagaaaAgcgaggggctgagcgatcgt	11	10	13	7	3	1	3	0	2	1	1	2	5	1	3	1	2	3	1	1	2	4	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr8:125565241A>C	ENST00000518547.1	-	14	2733	c.2260T>G	c.(2260-2262)Ttt>Gtt	p.F754V	MTSS1_ENST00000524090.1_Missense_Mutation_p.F644V|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000431961.2_Missense_Mutation_p.F472V|MTSS1_ENST00000395508.2_Missense_Mutation_p.F528V|MTSS1_ENST00000378017.3_Missense_Mutation_p.F729V|MTSS1_ENST00000354184.4_Missense_Mutation_p.F472V|MTSS1_ENST00000325064.5_Missense_Mutation_p.F758V|NDUFB9_ENST00000522532.1_Intron	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	754					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCTAAGAAAAGCGAGGGGCT	0.453													12	61					0	0	0	0	C	125565241	A	C	125565241	3	2	156	1	0	0	0	0	1	0	0	0	10032	72	3	5	11	5	MTSS1	8	125565241	Missense_Mutation	SNP	A	TCGA-CQ-7067-01A-11D-2229-08	15119835	125565241	20798781	30	28238											
TRAPPC9	83696	broad.mit.edu	37	chr8	141468516	141468517	+	Frame_Shift_Ins	INS	-	-	C																															ccgtgactcccacggtcgtgINSccccccacgtgggtgggtga																										TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr8:141468516_141468517insC	ENST00000389328.4	-	1	161_162	c.147_148insG	c.(145-150)ggacgafs	p.R50fs		NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	0					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCACGGTCGTGCCCCCCACGTG	0.743													2	4	---	---	---	---					C	141468517	-	C	141468516	7	5	156	1	0	1	1	0	0	0	0	0	16560	1319	46	0	3684	0	TRAPPC9	8	141468516	Frame_Shift_Ins	INS	-	TCGA-CQ-7067-01A-11D-2229-08	15903275	141468516	4895506	31	28239											
RASEF	158158	broad.mit.edu	37	chr9	85615351	85615351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctcggagaccacctacctgGggcgagagtgctgagatggg	8	7	16	10	2	1	3	0	1	1	3	2	6	1	3	3	4	2	1	3	4	1	1			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr9:85615351G>A	ENST00000376447.3	-	11	1832	c.1572C>T	c.(1570-1572)ccC>ccT	p.P524P		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	524					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CACCTACCTGGGGCGAGAGTG	0.458													13	45					0	0	0	0	A	85615351	G	A	85615351	2	1	156	1	0	0	0	0	0	0	0	1	13150	1219	43	4		4	RASEF	9	85615351	Silent	SNP	G	TCGA-CQ-7067-01A-11D-2229-08		85615351	55598080	32	28240											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606265	1606265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccccccttggagcccccaGaagagccacagccccctttg	8	5	9	19	0	0	2	0	0	0	2	0	3	0	3	8	1	4	0	8	1	1	2			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr11:1606265G>C	ENST00000382171.2	-	1	248	c.215C>G	c.(214-216)tCt>tGt	p.S72C	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	72	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAGCCCCCAGAAGAGCCACA	0.677													6	221					0	0	0	0	C	1606265	G	C	1606265	3	2	156	1	0	0	0	0	1	0	0	0	8611	942	33	2	625	2	KRTAP5-1	11	1606265	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08		1606265	133400251	33	28241											
NAT10	55226	broad.mit.edu	37	chr11	34139988	34139988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggagctgagggagttgaagGagagcttgcaggacacccag	11	6	17	7	0	0	3	0	2	0	1	0	7	0	6	1	4	3	4	1	4	1	2			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr11:34139988G>A	ENST00000257829.3	+	8	924	c.718G>A	c.(718-720)Gag>Aag	p.E240K	NAT10_ENST00000531159.2_Missense_Mutation_p.E168K|NAT10_ENST00000527971.1_Missense_Mutation_p.E240K	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	240						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGAGTTGAAGGAGAGCTTGCA	0.532													12	22					0	0	0	0	A	34139988	G	A	34139988	3	1	156	1	0	0	0	0	1	0	0	0	10244	1175	41	2	744	2	NAT10	11	34139988	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	32533723	34139988	100866528	34	28242											
AHNAK	79026	broad.mit.edu	37	chr11	62297509	62297509	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttcattttaggacctttCaaatgcaaaccaacatctgg	12	13	5	11	0	3	0	2	0	1	0	3	1	3	1	3	2	3	1	3	2	4	4			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr11:62297509C>G	ENST00000378024.4	-	5	4654	c.4380G>C	c.(4378-4380)ttG>ttC	p.L1460F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1460					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAGGACCTTTCAAATGCAAAC	0.383													20	140					0	0	0	0	G	62297509	C	G	62297509	3	3	156	1	0	0	0	0	1	0	0	0	414	825	29	2	13412	2	AHNAK	11	62297509	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	28157521	62297509	72709007	35	28243			1	40		3	3	309	C		2.923538e-07
AHNAK	79026	broad.mit.edu	37	chr11	62297542	62297542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatctggtatggatatcttCtgaggctttatactcatttc	9	17	7	8	0	4	1	1	1	3	0	5	2	4	2	0	3	1	2	0	3	4	7			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr11:62297542C>G	ENST00000378024.4	-	5	4621	c.4347G>C	c.(4345-4347)caG>caC	p.Q1449H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1449					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGATATCTTCTGAGGCTTTA	0.378													23	162					0	0	0	0	G	62297542	C	G	62297542	3	3	156	1	0	0	0	0	1	0	0	0	414	912	32	2	13445	2	AHNAK	11	62297542	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	33	62297542	72708974	36	28244			1	40		3	3	309	C		2.923538e-07
AHNAK	79026	broad.mit.edu	37	chr11	62297817	62297817	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactttgggccctttaatgtCaacatctggcactttcattt	9	16	6	10	0	3	0	2	0	1	0	3	0	3	0	1	2	2	1	1	2	3	5			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr11:62297817C>G	ENST00000378024.4	-	5	4346	c.4072G>C	c.(4072-4074)Gac>Cac	p.D1358H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1358					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTAATGTCAACATCTGGC	0.478													30	195					0	0	0	0	G	62297817	C	G	62297817	3	3	156	1	0	0	0	0	1	0	0	0	414	826	29	2	13720	2	AHNAK	11	62297817	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	275	62297817	72708699	37	28245			1	40		3	3	309	C		2.923538e-07
ACRBP	84519	broad.mit.edu	37	chr12	6753392	6753392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctgatcgaatgagctcctgGatgttctccattatcatagg	9	13	10	9	1	2	2	1	2	1	0	5	4	3	3	2	2	1	3	2	2	3	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr12:6753392G>C	ENST00000229243.2	-	5	948	c.855C>G	c.(853-855)atC>atG	p.I285M	ACRBP_ENST00000414226.2_Missense_Mutation_p.I252M|ACRBP_ENST00000536350.1_Missense_Mutation_p.I285M	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	285						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TGAGCTCCTGGATGTTCTCCA	0.438													9	58					0	0	0	0	C	6753392	G	C	6753392	3	2	156	1	0	0	0	0	1	0	0	0	170	1164	41	2	800	2	ACRBP	12	6753392	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08		6753392	127098503	38	28246											
SCN8A	6334	broad.mit.edu	37	chr12	52115463	52115463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggatgacgagcacagcaCggtggaggagagcgagggcc	10	2	19	10	5	0	2	0	1	0	1	0	7	0	4	1	5	3	2	1	5	0	0			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr12:52115463C>T	ENST00000354534.5	+	12	1947	c.1769C>T	c.(1768-1770)aCg>aTg	p.T590M	SCN8A_ENST00000550891.1_Missense_Mutation_p.T590M|SCN8A_ENST00000545061.1_Missense_Mutation_p.T590M	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	590					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GAGCACAGCACGGTGGAGGAG	0.672													3	11					0	0	0	0	T	52115463	C	T	52115463	3	4	156	1	0	0	0	0	1	0	0	0	14011	536	19	1	1811	1	SCN8A	12	52115463	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	45362071	52115463	81736432	39	28247											
HOXC10	3226	broad.mit.edu	37	chr12	54383208	54383208	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatcggatccgggaactgaCctccaattttaatttcacct	11	12	7	11	2	1	1	1	1	0	0	4	4	3	3	4	2	1	0	4	2	4	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr12:54383208C>A	ENST00000303460.4	+	2	1081	c.1007C>A	c.(1006-1008)aCc>aAc	p.T336N	HOXC10_ENST00000511575.1_3'UTR	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	336					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CGGGAACTGACCTCCAATTTT	0.478											OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	23					2.56e-06	2.78261e-06	1	0	A	54383208	C	A	54383208	3	1	156	1	0	0	0	0	1	0	0	0	7359	507	18	4	1013	4	HOXC10	12	54383208	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	2267745	54383208	79468687	40	28248											
OR6C76	390326	broad.mit.edu	37	chr12	55820729	55820729	+	Missense_Mutation	SNP	G	G	T																															aatcccctcagcacagcaaaGaaaaaaagccttttcaacct																										TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr12:55820729G>T	ENST00000328314.3	+	1	692	c.692G>T	c.(691-693)aGa>aTa	p.R231I		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCACAGCAAAGAAAAAAAGCC	0.368													3	23					0.004672	0.00481649	1	0	T	55820729	G	T	55820729	3	4	156	1	0	0	0	0	1	0	0	0	11271	942	33	2	694	2	OR6C76	12	55820729	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	1437521	55820729	78031166	41	28249	222	2									
OR6C76	390326	broad.mit.edu	37	chr12	55820730	55820730	+	Silent	SNP	A	A	G																															atcccctcagcacagcaaagAaaaaaagccttttcaacctg																										TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr12:55820730A>G	ENST00000328314.3	+	1	693	c.693A>G	c.(691-693)agA>agG	p.R231R		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CACAGCAAAGAAAAAAAGCCT	0.373													3	23					0	0	0	0	G	55820730	A	G	55820730	2	3	156	1	0	0	0	0	0	0	0	1	11271	243	9	5		5	OR6C76	12	55820730	Silent	SNP	A	TCGA-CQ-7067-01A-11D-2229-08	1	55820730	78031165	42	28250	222	2									
PPFIA2	8499	broad.mit.edu	37	chr12	81839373	81839373	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgctcaaacaaagattTcagtgccttgagaacttcaa	13	11	9	8	0	3	2	3	1	0	2	3	3	3	2	1	1	4	1	1	1	4	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr12:81839373T>C	ENST00000550584.2	-	5	827	c.532A>G	c.(532-534)Aaa>Gaa	p.K178E	PPFIA2_ENST00000443686.3_Missense_Mutation_p.K104E|PPFIA2_ENST00000548586.1_Missense_Mutation_p.K178E|PPFIA2_ENST00000549325.1_Missense_Mutation_p.K160E|PPFIA2_ENST00000552948.1_Missense_Mutation_p.K178E|PPFIA2_ENST00000333447.7_Missense_Mutation_p.K160E|PPFIA2_ENST00000407050.4_Missense_Mutation_p.K104E|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.K178E|PPFIA2_ENST00000550359.2_Missense_Mutation_p.K25E|RP11-315E17.1_ENST00000550272.1_RNA	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	104										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AACAAAGATTTCAGTGCCTTG	0.433													12	38					0	0	0	0	C	81839373	T	C	81839373	3	2	156	1	0	0	0	0	1	0	0	0	12381	1792	62	5	3349	5	PPFIA2	12	81839373	Missense_Mutation	SNP	T	TCGA-CQ-7067-01A-11D-2229-08	26018643	81839373	52012522	43	28251											
SACS	26278	broad.mit.edu	37	chr13	23905024	23905024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccatttcaaatacaaccGcctaataatcttttttcgtt	12	16	3	10	2	2	0	1	0	1	0	3	0	2	0	3	0	3	1	3	0	5	8			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr13:23905024G>A	ENST00000382298.3	-	10	13579	c.12991C>T	c.(12991-12993)Cgg>Tgg	p.R4331W	SACS_ENST00000402364.1_Missense_Mutation_p.R3581W|SACS_ENST00000382292.3_Missense_Mutation_p.R4331W	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4331	J.		R -> Q (in SACS).		cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAATACAACCGCCTAATAATC	0.358													4	99					0	0	0	0	A	23905024	G	A	23905024	3	1	156	1	0	0	0	0	1	0	0	0	13889	1086	38	1	752	1	SACS	13	23905024	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08		23905024	91264854	44	28252											
MYO16	23026	broad.mit.edu	37	chr13	109550386	109550386	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgtgcatcttagaagcctTtggacatgccaagaccacac	11	9	9	12	1	1	2	0	0	1	2	1	3	1	3	3	1	3	1	3	1	3	2			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr13:109550386T>A	ENST00000356711.2	+	15	1742	c.1616T>A	c.(1615-1617)tTt>tAt	p.F539Y	MYO16_ENST00000457511.2_Missense_Mutation_p.F51Y|MYO16_ENST00000357550.2_Missense_Mutation_p.F539Y|MYO16_ENST00000251041.5_Missense_Mutation_p.F539Y	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	539	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTAGAAGCCTTTGGACATGCC	0.408													19	23					0	0	0	0	A	109550386	T	A	109550386	3	1	156	1	0	0	0	0	1	0	0	0	10134	1841	64	5	1670	5	MYO16	13	109550386	Missense_Mutation	SNP	T	TCGA-CQ-7067-01A-11D-2229-08	85645362	109550386	5619492	45	28253											
RYR3	6263	broad.mit.edu	37	chr15	33955106	33955106	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcaaggaggctcctgtcaAaggcttgttgcagactcgat	9	9	13	10	2	1	1	1	0	0	1	3	3	2	2	1	4	1	5	1	4	2	2			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr15:33955106A>C	ENST00000389232.4	+	35	5445	c.5375A>C	c.(5374-5376)aAa>aCa	p.K1792T	RYR3_ENST00000415757.3_Missense_Mutation_p.K1792T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1792	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTCCTGTCAAAGGCTTGTTG	0.547													71	49					0	0	0	0	C	33955106	A	C	33955106	3	2	156	1	0	0	0	0	1	0	0	0	13855	14	1	5	5513	5	RYR3	15	33955106	Missense_Mutation	SNP	A	TCGA-CQ-7067-01A-11D-2229-08		33955106	68576286	46	28254											
SEMA6D	80031	broad.mit.edu	37	chr15	48056383	48056383	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcagcatccctggttcTgctgtctgtgcatttagcat	5	17	8	11	0	3	0	1	0	2	0	4	0	4	0	1	1	4	5	1	1	1	5			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr15:48056383T>C	ENST00000316364.5	+	11	1417	c.978T>C	c.(976-978)tcT>tcC	p.S326S	SEMA6D_ENST00000358066.4_Silent_p.S326S|SEMA6D_ENST00000389428.3_Silent_p.S326S|SEMA6D_ENST00000354744.4_Silent_p.S326S|SEMA6D_ENST00000355997.3_Silent_p.S326S|SEMA6D_ENST00000558014.1_Silent_p.S326S|SEMA6D_ENST00000389425.3_Silent_p.S326S|SEMA6D_ENST00000537942.1_Silent_p.S326S|SEMA6D_ENST00000389432.2_Silent_p.S326S|SEMA6D_ENST00000389433.2_Silent_p.S326S|SEMA6D_ENST00000558816.1_Silent_p.S326S|SEMA6D_ENST00000536845.2_Silent_p.S326S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	326	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCCCTGGTTCTGCTGTCTGTG	0.448													23	44					0	0	0	0	C	48056383	T	C	48056383	2	2	156	1	0	0	0	0	0	0	0	1	14129	1567	55	5		5	SEMA6D	15	48056383	Silent	SNP	T	TCGA-CQ-7067-01A-11D-2229-08	14101277	48056383	54475009	47	28255											
IGFALS	3483	broad.mit.edu	37	chr16	1840696	1840696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgttgtaggtgtacgCgggcggctggcaatcgtccc	5	11	16	9	4	0	0	0	0	0	0	2	1	1	0	1	4	1	6	1	4	3	4			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr16:1840696C>T	ENST00000415638.3	-	2	1916	c.1837G>A	c.(1837-1839)Gcg>Acg	p.A613T	IGFALS_ENST00000215539.3_Missense_Mutation_p.A575T	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	575					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						TAGGTGTACGCGGGCGGCTGG	0.677													3	16					0	0	0	0	T	1840696	C	T	1840696	3	4	156	1	0	0	0	0	1	0	0	0	7630	768	27	1	98	1	IGFALS	16	1840696	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08		1840696	88514057	48	28256											
RNPS1	10921	broad.mit.edu	37	chr16	2312365	2312365	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggacagatggggatgcAtcctttccacgggcatgtca	8	11	12	10	1	1	1	1	0	0	1	3	3	3	3	2	4	1	2	2	4	0	2			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr16:2312365A>T	ENST00000565678.1	-	6	1135	c.590T>A	c.(589-591)aTg>aAg	p.M197K	RNPS1_ENST00000567147.1_Missense_Mutation_p.M174K|RNPS1_ENST00000566458.1_Missense_Mutation_p.M174K|RNPS1_ENST00000568631.1_Missense_Mutation_p.M197K|RNPS1_ENST00000566397.1_Missense_Mutation_p.M20K|RNPS1_ENST00000397086.2_Missense_Mutation_p.M197K|RNPS1_ENST00000320225.5_Missense_Mutation_p.M197K|RNPS1_ENST00000569598.2_Missense_Mutation_p.M103K|RNPS1_ENST00000561718.1_Missense_Mutation_p.M20K|RNPS1_ENST00000301730.8_Missense_Mutation_p.M197K			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	197	Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						ATGGGGATGCATCCTTTCCAC	0.502													12	67					0	0	0	0	T	2312365	A	T	2312365	3	4	156	1	0	0	0	0	1	0	0	0	13596	217	8	5	339	5	RNPS1	16	2312365	Missense_Mutation	SNP	A	TCGA-CQ-7067-01A-11D-2229-08	471669	2312365	88042388	49	28257											
AMDHD2	51005	broad.mit.edu	37	chr16	2578599	2578599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcccaggtcccagcccGcatgccaggtggcccacgac	6	5	13	17	2	0	0	0	0	0	0	2	1	2	0	5	4	2	1	5	4	0	0	rs146149020		TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr16:2578599G>A	ENST00000302956.4	+	8	1103	c.1009G>A	c.(1009-1011)Gca>Aca	p.A337T	AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000293971.6_Intron|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.A337T			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	323					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GTCCCAGCCCGCATGCCAGGT	0.677													7	35					0	0	0	0	A	2578599	G	A	2578599	3	1	156	1	0	0	0	0	1	0	0	0	568	1087	38	1	1039	1	AMDHD2	16	2578599	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	266234	2578599	87776154	50	28258											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19126861	19126861	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggagcagaagctgctgAgttggctgcaggaacgggca	10	5	17	9	1	0	2	0	1	0	1	0	4	0	4	1	4	5	7	1	4	2	1			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr16:19126861A>G	ENST00000381440.3	+	1	1608	c.1078A>G	c.(1078-1080)Agt>Ggt	p.S360G	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	360						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAAGCTGCTGAGTTGGCTGCA	0.667													14	63					0	0	0	0	G	19126861	A	G	19126861	3	3	156	1	0	0	0	0	1	0	0	0	7978	304	11	5	1080	5	ITPRIPL2	16	19126861	Missense_Mutation	SNP	A	TCGA-CQ-7067-01A-11D-2229-08	16548262	19126861	71227892	51	28259											
FUS	2521	broad.mit.edu	37	chr16	31193979	31193979	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttcttatggccagagcCagaacagtgagtctttctca	10	13	8	10	0	4	3	1	1	4	2	5	3	4	3	2	1	2	0	2	1	2	4			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr16:31193979C>T	ENST00000254108.7	+	3	289	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	FUS_ENST00000380244.3_Nonsense_Mutation_p.Q62*|RP11-388M20.6_ENST00000564743.1_RNA|FUS_ENST00000568685.1_Nonsense_Mutation_p.Q62*	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	62	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGGCCAGAGCCAGAACAGTGA	0.493			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								32	53					0	0	0	0	T	31193979	C	T	31193979	4	4	156	1	0	0	0	0	0	1	0	0	6148	595	21	4	194	4	FUS	16	31193979	Nonsense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	12067118	31193979	59160774	52	28260											
USP6	9098	broad.mit.edu	37	chr17	5039136	5039136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggacctgagccacatcAccgccttgttcctcctttat	7	11	8	15	1	1	1	1	1	0	0	3	2	3	2	6	1	1	2	6	1	1	4			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr17:5039136A>G	ENST00000574788.1	+	17	2807	c.577A>G	c.(577-579)Acc>Gcc	p.T193A	USP6_ENST00000250066.6_Missense_Mutation_p.T193A|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Missense_Mutation_p.T193A			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	193	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GAGCCACATCACCGCCTTGTT	0.607			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								6	94					0	0	0	0	G	5039136	A	G	5039136	3	3	156	1	0	0	0	0	1	0	0	0	17182	159	6	5	607	5	USP6	17	5039136	Missense_Mutation	SNP	A	TCGA-CQ-7067-01A-11D-2229-08		5039136	76156074	53	28261											
USP6	9098	broad.mit.edu	37	chr17	5041493	5041493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgatacctgggccatgaacGatgacaccgtgctcaagcat	11	8	10	12	3	1	2	1	2	0	0	2	4	1	2	3	1	4	2	3	1	3	1	rs145087393	byFrequency	TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr17:5041493G>A	ENST00000574788.1	+	21	3233	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	USP6_ENST00000250066.6_Missense_Mutation_p.D335N|USP6_ENST00000304328.5_De_novo_Start_InFrame|USP6_ENST00000332776.4_Missense_Mutation_p.D335N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	335					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGCCATGAACGATGACACCGT	0.577			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								14	113					0	0	0	0	A	5041493	G	A	5041493	3	1	156	1	0	0	0	0	1	0	0	0	17182	1058	37	1	1049	1	USP6	17	5041493	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	2357	5041493	76153717	54	28262											
TP53	7157	broad.mit.edu	37	chr17	7576852	7576852	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggtcccaagacttagtaCctgaagggtgaaatattctc	13	10	10	8	0	1	4	0	2	1	2	3	4	2	4	2	2	1	1	2	2	6	4	rs11575997		TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr17:7576852C>T	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(24)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGACTTAGTACCTGAAGGGTG	0.458		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	25					0	0	0	0	T	7576852	C	T	7576852	5	4	156	1	0	0	0	0	0	0	1	0	16476	521	18	4	288	4	TP53	17	7576852	Splice_Site	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	2535359	7576852	73618358	55	28263											
HNF1B	6928	broad.mit.edu	37	chr17	36104708	36104708	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaccggcttggtgtcGggctcggccccgctgccagg	4	7	17	13	4	0	1	0	0	0	1	2	2	0	2	4	6	1	3	4	6	1	1			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr17:36104708G>A	ENST00000225893.4	-	1	529	c.168C>T	c.(166-168)ccC>ccT	p.P56P	HNF1B_ENST00000427275.2_Silent_p.P56P|HNF1B_ENST00000561193.1_Silent_p.P56P|HNF1B_ENST00000560016.1_Silent_p.P56P	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	56					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GCTTGGTGTCGGGCTCGGCCC	0.667													20	31					0	0	0	0	A	36104708	G	A	36104708	2	1	156	1	0	0	0	0	0	0	0	1	7302	1103	39	1		1	HNF1B	17	36104708	Silent	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	28527856	36104708	45090502	56	28264											
HOXB8	3218	broad.mit.edu	37	chr17	46691870	46691870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgctggtagggagccGtggacagcgacgacggcccg	6	6	18	11	5	1	0	0	0	1	0	1	4	1	2	2	5	3	3	2	5	1	2			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr17:46691870G>A	ENST00000239144.4	-	1	431	c.197C>T	c.(196-198)aCg>aTg	p.T66M	HOXB8_ENST00000576562.1_Missense_Mutation_p.T66M|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	66						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GTAGGGAGCCGTGGACAGCGA	0.687													10	31					0	0	0	0	A	46691870	G	A	46691870	3	1	156	1	0	0	0	0	1	0	0	0	7357	1145	40	1	542	1	HOXB8	17	46691870	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	10587162	46691870	34503340	57	28265											
SOCS3	9021	broad.mit.edu	37	chr17	76354697	76354697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgtaataggctcttctgggGggactcccagggagtggctg	7	10	16	8	0	2	0	0	0	2	0	3	2	3	2	1	6	0	3	1	6	2	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr17:76354697G>A	ENST00000330871.2	-	2	895	c.480C>T	c.(478-480)ccC>ccT	p.P160P		NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	160					anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			CTCTTCTGGGGGGACTCCCAG	0.657													3	46					0	0	0	0	A	76354697	G	A	76354697	2	1	156	1	0	0	0	0	0	0	0	1	15003	1219	43	4		4	SOCS3	17	76354697	Silent	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	29662827	76354697	4840513	58	28266											
MUC16	94025	broad.mit.edu	37	chr19	9011326	9011326	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcacatctgttcaccattGacatagagactgttcctgtc	10	13	6	12	0	3	2	2	1	1	1	5	3	4	2	2	0	0	2	2	0	1	4			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr19:9011326G>A	ENST00000397910.4	-	36	39110	c.38907C>T	c.(38905-38907)gtC>gtT	p.V12969V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12971	SEA 6.				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						GTTCACCATTGACATAGAGAC	0.537													17	163					0	0	0	0	A	9011326	G	A	9011326	2	1	156	1	0	0	0	0	0	0	0	1	10043	1277	45	2		2	MUC16	19	9011326	Silent	SNP	G	TCGA-CQ-7067-01A-11D-2229-08		9011326	50117657	59	28267											
MUC16	94025	broad.mit.edu	37	chr19	9065802	9065802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtatcctcctgggtggagGtaataaacattggtgatgtg	9	14	13	5	0	0	1	0	1	0	0	2	2	2	2	2	4	1	2	2	4	4	5			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr19:9065802G>T	ENST00000397910.4	-	3	21847	c.21644C>A	c.(21643-21645)aCc>aAc	p.T7215N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7217	Ser-rich.|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						CTGGGTGGAGGTAATAAACAT	0.483													25	105					9.57634e-11	1.06404e-10	1	0	T	9065802	G	T	9065802	3	4	156	1	0	0	0	0	1	0	0	0	10043	1261	44	4	22207	4	MUC16	19	9065802	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	54476	9065802	50063181	60	28268											
ZNF99	7652	broad.mit.edu	37	chr19	22939063	22939063	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaagggctgaaagatggtTaaaagctttgccacattctt	13	12	10	6	0	1	2	0	1	1	1	1	2	1	2	1	2	2	4	1	2	4	5			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr19:22939063T>C	ENST00000397104.3	-	8	3057	c.3058A>G	c.(3058-3060)Aac>Gac	p.N1020D						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GAAAGATGGTTAAAAGCTTTG	0.373													5	24					0	0	0	0	C	22939063	T	C	22939063	3	2	156	1	0	0	0	0	1	0	0	0	18297	1754	61	5	57	5	ZNF99	19	22939063	Missense_Mutation	SNP	T	TCGA-CQ-7067-01A-11D-2229-08	13873261	22939063	36189920	61	28269											
ZNF91	7644	broad.mit.edu	37	chr19	23543330	23543330	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctccagtatgaattgtCttatgcttagtaagggttga	9	17	9	6	0	2	2	0	2	2	0	4	2	3	2	1	1	1	4	1	1	5	7			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr19:23543330C>G	ENST00000300619.7	-	4	2656	c.2451G>C	c.(2449-2451)aaG>aaC	p.K817N	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.K785N	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	817						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TATGAATTGTCTTATGCTTAG	0.408													9	47					0	0	0	0	G	23543330	C	G	23543330	3	3	156	1	0	0	0	0	1	0	0	0	18293	912	32	2	1128	2	ZNF91	19	23543330	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	604267	23543330	35585653	62	28270											
ZNF845	91664	broad.mit.edu	37	chr19	53848876	53848876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagaattataggaacctgGtctccctgggtgaggataac	11	10	13	7	0	1	2	0	1	1	1	2	5	1	4	2	5	2	0	2	5	5	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr19:53848876G>A	ENST00000458035.1	+	3	250	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	ZNF845_ENST00000595091.1_Missense_Mutation_p.V45I	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAGGAACCTGGTCTCCCTGGG	0.473													27	104					0	0	0	0	A	53848876	G	A	53848876	3	1	156	1	0	0	0	0	1	0	0	0	18284	1261	44	4	139	4	ZNF845	19	53848876	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	30305546	53848876	5280107	63	28271											
FASTKD5	60493	broad.mit.edu	37	chr20	3128510	3128510	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttcattcaggaagcgtaAggccgagcagtaaagagtca	13	8	11	9	2	3	1	3	0	0	1	4	3	4	2	2	2	2	3	2	2	4	4			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr20:3128510A>T	ENST00000380266.3	-	2	1528	c.1207T>A	c.(1207-1209)Tta>Ata	p.L403I	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	403					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AGGAAGCGTAAGGCCGAGCAG	0.483													11	72					0	0	0	0	T	3128510	A	T	3128510	3	4	156	1	0	0	0	0	1	0	0	0	5733	69	3	5	1091	5	FASTKD5	20	3128510	Missense_Mutation	SNP	A	TCGA-CQ-7067-01A-11D-2229-08		3128510	59897010	64	28272											
PAK7	57144	broad.mit.edu	37	chr20	9561228	9561228	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcggatttcaaaggcttcAcctcagaatagtaggcctcc	12	10	8	11	1	3	1	3	0	0	1	5	2	4	2	3	3	0	2	3	3	5	4			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr20:9561228A>G	ENST00000378429.3	-	5	1100	c.554T>C	c.(553-555)gTg>gCg	p.V185A	PAK7_ENST00000378423.1_Missense_Mutation_p.V185A|PAK7_ENST00000353224.5_Missense_Mutation_p.V185A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	185	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAAAGGCTTCACCTCAGAATA	0.463													35	93					0	0	0	0	G	9561228	A	G	9561228	3	3	156	1	0	0	0	0	1	0	0	0	11476	159	6	5	1633	5	PAK7	20	9561228	Missense_Mutation	SNP	A	TCGA-CQ-7067-01A-11D-2229-08	6432718	9561228	53464292	65	28273											
ZNF217	7764	broad.mit.edu	37	chr20	52198810	52198810	+	Frame_Shift_Del	DEL	T	T	-																															caagccttgctgcagtttgcTtctggcccccgatttgccat																										TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr20:52198810delT	ENST00000371471.2	-	2	981	c.556delA	c.(556-558)gcfs	p.S186fs	ZNF217_ENST00000302342.3_Frame_Shift_Del_p.S186fs			O75362	ZN217_HUMAN	zinc finger protein 217	186					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGCAGTTTGCTTCTGGCCCCC	0.498													29	169	---	---	---	---					-	52198810	T	-	52198810	7	5	156	1	0	1	0	1	0	0	0	0	17867	1609	56	0	2606	0	ZNF217	20	52198810	Frame_Shift_Del	DEL	T	TCGA-CQ-7067-01A-11D-2229-08	42637582	52198810	10826710	66	28274											
IL10RB	3588	broad.mit.edu	37	chr21	34655489	34655489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttcgagggtttcttcctGatcggaacaaagctggggaa	11	10	13	7	2	1	1	0	1	1	0	4	4	2	3	1	4	2	3	1	4	4	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr21:34655489G>T	ENST00000290200.2	+	5	697	c.589G>T	c.(589-591)Gat>Tat	p.D197Y	AP000295.9_ENST00000433395.2_Silent_p.L324L	NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GTTTCTTCCTGATCGGAACAA	0.478													15	23					1.52009e-12	1.70797e-12	1	0	T	34655489	G	T	34655489	3	4	156	1	0	0	0	0	1	0	0	0	7674	1290	45	2	607	2	IL10RB	21	34655489	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08		34655489	13474406	67	28275											
C2CD2	25966	broad.mit.edu	37	chr21	43309401	43309401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactcatgcctgggtctttCtgttgatgccgccggcggaa	5	12	13	11	3	3	2	1	2	2	0	3	3	3	3	3	3	2	1	3	3	1	2			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr21:43309401C>T	ENST00000380486.3	-	14	2164	c.1923G>A	c.(1921-1923)caG>caA	p.Q641Q	C2CD2_ENST00000329623.7_Silent_p.Q486Q	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	641						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTGGGTCTTTCTGTTGATGCC	0.562													4	31					0	0	0	0	T	43309401	C	T	43309401	2	4	156	1	0	0	0	0	0	0	0	1	2172	912	32	2		2	C2CD2	21	43309401	Silent	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	8653912	43309401	4820494	68	28276											
MYH9	4627	broad.mit.edu	37	chr22	36708210	36708210	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacgaagctcttgtcggTggctttggggaaccagcact	7	10	12	12	2	1	0	0	0	1	0	3	2	2	1	2	4	3	3	2	4	2	2			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr22:36708210T>G	ENST00000216181.5	-	14	1842	c.1612A>C	c.(1612-1614)Acc>Ccc	p.T538P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	538	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCTTGTCGGTGGCTTTGGGG	0.602			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				26	61					0	0	0	0	G	36708210	T	G	36708210	3	3	156	1	0	0	0	0	1	0	0	0	10112	1696	59	5	4382	5	MYH9	22	36708210	Missense_Mutation	SNP	T	TCGA-CQ-7067-01A-11D-2229-08		36708210	14596356	69	28277											
ATP6AP2	10159	broad.mit.edu	37	chrX	40456519	40456519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcagttccttttagtcttGacagtgttgcaaattccatt	9	16	8	8	0	1	1	0	1	1	0	3	1	3	1	2	1	1	4	2	1	2	7			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:40456519G>C	ENST00000378438.4	+	4	477	c.319G>C	c.(319-321)Gac>Cac	p.D107H	ATP6AP2_ENST00000544975.1_Missense_Mutation_p.D31H|ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000535539.1_Intron|ATP6AP2_ENST00000486558.1_Intron	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	107					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						TTTTAGTCTTGACAGTGTTGC	0.363													4	40					0	0	0	0	C	40456519	G	C	40456519	3	2	156	1	0	0	0	0	1	0	0	0	1171	1290	45	2	333	2	ATP6AP2	23	40456519	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08		40456519	114814041	70	28278											
CHST7	56548	broad.mit.edu	37	chrX	46433851	46433851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgctgcgttcgctcttccGctgcgacttctccgtgctgc	2	13	10	16	5	2	0	0	0	2	0	5	1	3	0	2	0	5	5	2	0	0	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:46433851G>A	ENST00000276055.3	+	1	633	c.485G>A	c.(484-486)cGc>cAc	p.R162H		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	162					chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TCGCTCTTCCGCTGCGACTTC	0.692													3	51					0	0	0	0	A	46433851	G	A	46433851	3	1	156	1	0	0	0	0	1	0	0	0	3438	1087	38	1	487	1	CHST7	23	46433851	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	5977332	46433851	108836709	71	28279											
HDAC6	10013	broad.mit.edu	37	chrX	48672857	48672857	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcccccagtgtcctctatTtctccatccaccgctacgag	6	11	6	18	2	2	0	0	0	2	0	5	1	4	0	6	0	2	1	6	0	2	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:48672857T>G	ENST00000334136.5	+	11	995	c.817T>G	c.(817-819)Ttc>Gtc	p.F273V	HDAC6_ENST00000413163.2_Missense_Mutation_p.F218V|HDAC6_ENST00000376619.2_Missense_Mutation_p.F273V|HDAC6_ENST00000444343.2_Missense_Mutation_p.F287V			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	273	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGTCCTCTATTTCTCCATCCA	0.532													48	69					0	0	0	0	G	48672857	T	G	48672857	3	3	156	1	0	0	0	0	1	0	0	0	7061	1841	64	5	855	5	HDAC6	23	48672857	Missense_Mutation	SNP	T	TCGA-CQ-7067-01A-11D-2229-08	2239006	48672857	106597703	72	28280											
GPR173	54328	broad.mit.edu	37	chrX	53105971	53105971	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtgccctgcacaaggcTccttactacttcctgctgga	7	10	10	14	1	0	0	0	0	0	0	2	2	2	1	3	2	6	3	3	2	3	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:53105971T>A	ENST00000332582.4	+	2	659	c.168T>A	c.(166-168)gcT>gcA	p.A56A		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	56						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						TGCACAAGGCTCCTTACTACT	0.592													34	33					0	0	0	0	A	53105971	T	A	53105971	2	1	156	1	0	0	0	0	0	0	0	1	6720	1538	54	5		5	GPR173	23	53105971	Silent	SNP	T	TCGA-CQ-7067-01A-11D-2229-08	4433114	53105971	102164589	73	28281											
FAAH2	158584	broad.mit.edu	37	chrX	57337038	57337038	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcttaggtttgaggaagcGatgaaggaggctcatgctgt	9	12	14	6	1	2	2	1	2	1	0	2	5	2	4	0	4	2	3	0	4	3	3	rs56161888	byFrequency	TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:57337038G>A	ENST00000374900.4	+	3	408	c.288G>A	c.(286-288)gcG>gcA	p.A96A		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	96						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TTGAGGAAGCGATGAAGGAGG	0.388										HNSCC(52;0.14)			15	22					0	0	0	0	A	57337038	G	A	57337038	2	1	156	1	0	0	0	0	0	0	0	1	5395	1045	37	1		1	FAAH2	23	57337038	Silent	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	4231067	57337038	97933522	74	28282											
FAAH2	158584	broad.mit.edu	37	chrX	57474971	57474971	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtaggactggctttgttgGaagaaaagctcagatatagc	12	11	12	6	0	1	2	1	0	0	2	1	4	1	4	0	3	2	4	0	3	6	5			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:57474971G>T	ENST00000374900.4	+	10	1363	c.1243G>T	c.(1243-1245)Gaa>Taa	p.E415*	FAAH2_ENST00000491179.1_Intron	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	415						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GGCTTTGTTGGAAGAAAAGCT	0.343										HNSCC(52;0.14)			7	40					2.0095e-06	2.20824e-06	1	0	T	57474971	G	T	57474971	4	4	156	1	0	0	0	0	0	1	0	0	5395	1175	41	2	1281	2	FAAH2	23	57474971	Nonsense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	137933	57474971	97795589	75	28283											
ZXDB	158586	broad.mit.edu	37	chrX	57620204	57620204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggttaaaaggcataaggtgGgccaggatctcttagctcag	11	10	13	7	0	2	0	1	0	1	0	3	1	2	1	1	5	1	3	1	5	4	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:57620204G>T	ENST00000374888.1	+	1	1936	c.1723G>T	c.(1723-1725)Ggc>Tgc	p.G575C		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	575	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GCATAAGGTGGGCCAGGATCT	0.473													18	106					8.04996e-18	9.14768e-18	1	0	T	57620204	G	T	57620204	3	4	156	1	0	0	0	0	1	0	0	0	18342	1232	43	4	1725	4	ZXDB	23	57620204	Missense_Mutation	SNP	G	TCGA-CQ-7067-01A-11D-2229-08	145233	57620204	97650356	76	28284											
MED12	9968	broad.mit.edu	37	chrX	70348273	70348275	+	In_Frame_Del	DEL	CTC	CTC	-																															gcacttgtggtttcaacgatCtcctctgcaatgttgatgtg																										TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:70348273_70348275delCTC	ENST00000333646.6	+	23	3536_3538	c.3337_3339delCTC	c.(3337-3339)del	p.L1114del	MED12_ENST00000374102.1_In_Frame_Del_p.L1114del|MED12_ENST00000374080.3_In_Frame_Del_p.L1114del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1114					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTTCAACGATCTCCTCTGCAATG	0.542			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						25	105	---	---	---	---					-	70348275	CTC	-	70348273	7	5	156	1	0	1	0	1	0	0	0	0	9497	913	32	0	3427	0	MED12	23	70348273	In_Frame_Del	DEL	CTC	TCGA-CQ-7067-01A-11D-2229-08	12728069	70348273	84922287	77	28285											
CXorf57	55086	broad.mit.edu	37	chrX	105882883	105882883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatatcccccatagcagtgCgactgaaagtgcctcagcat	11	9	9	12	1	1	1	1	1	0	0	2	2	2	1	3	0	4	3	3	0	4	3			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:105882883C>T	ENST00000372548.4	+	9	1809	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	567										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CATAGCAGTGCGACTGAAAGT	0.418													15	54					0	0	0	0	T	105882883	C	T	105882883	3	4	156	1	0	0	0	0	1	0	0	0	4145	768	27	1	1734	1	CXorf57	23	105882883	Missense_Mutation	SNP	C	TCGA-CQ-7067-01A-11D-2229-08	35534610	105882883	49387677	78	28286											
TNFRSF25	8718	broad.mit.edu	37	chr1	6524760	6524760	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggccactgctgaacagttCtccagcgccacctgggaggc	7	7	12	15	2	1	1	0	1	1	0	3	2	1	2	4	3	3	2	4	3	1	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:6524760C>G	ENST00000377782.3	-	4	382	c.315G>C	c.(313-315)gaG>gaC	p.E105D	TNFRSF25_ENST00000351748.3_Intron|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.E60D|TNFRSF25_ENST00000356876.3_Missense_Mutation_p.E105D|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.E105D	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	105					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CTGAACAGTTCTCCAGCGCCA	0.607													17	24					0	0	0	0	G	6524760	C	G	6524760	3	3	157	1	0	0	0	0	1	0	0	0	16390	912	32	2	997	2	TNFRSF25	1	6524760	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08		6524760	242725861	1	28287											
BAI2	576	broad.mit.edu	37	chr1	32207757	32207757	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccggctgcgctgttgggtCccattggcacaggacgtgga	5	10	15	11	3	0	0	0	0	0	0	2	2	2	2	2	5	1	4	2	5	0	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:32207757C>T	ENST00000373658.3	-	8	1655	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	BAI2_ENST00000398542.1_Silent_p.G371G|BAI2_ENST00000440175.2_Silent_p.G80G|BAI2_ENST00000398547.1_Silent_p.G371G|BAI2_ENST00000398556.3_Silent_p.G386G|BAI2_ENST00000257070.4_Silent_p.G438G|BAI2_ENST00000373655.2_Silent_p.G438G|BAI2_ENST00000527361.1_Silent_p.G438G|BAI2_ENST00000398538.1_Silent_p.G426G	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	438	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCTGTTGGGTCCCATTGGCAC	0.662													18	30					0	0	0	0	T	32207757	C	T	32207757	2	4	157	1	0	0	0	0	0	0	0	1	1303	842	30	2		2	BAI2	1	32207757	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	25682997	32207757	217042864	2	28288											
LEPR	3953	broad.mit.edu	37	chr1	66070790	66070790	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaaagattgctatttgcaGagtgatggtttttatgaatg	11	15	10	5	0	0	4	0	2	0	2	0	4	0	4	1	1	2	3	1	1	4	6			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:66070790G>C	ENST00000349533.6	+	11	1658	c.1473G>C	c.(1471-1473)caG>caC	p.Q491H	LEPR_ENST00000371059.3_Missense_Mutation_p.Q491H|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.Q491H|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.Q491H|LEPR_ENST00000371060.3_Missense_Mutation_p.Q491H	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	491					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCTATTTGCAGAGTGATGGTT	0.368													25	61					0	0	0	0	C	66070790	G	C	66070790	3	2	157	1	0	0	0	0	1	0	0	0	8781	933	33	2	1507	2	LEPR	1	66070790	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	33863033	66070790	183179831	3	28289											
UBL4B	164153	broad.mit.edu	37	chr1	110655410	110655410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaaaggaggcccaccagcCgcagacccagcccctgtggc	9	3	12	17	1	0	1	0	0	0	1	0	2	0	2	6	3	2	2	6	3	2	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:110655410C>T	ENST00000334179.3	+	1	349	c.254C>T	c.(253-255)cCg>cTg	p.P85L		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	85						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCCACCAGCCGCAGACCCAG	0.577													14	36					0	0	0	0	T	110655410	C	T	110655410	3	4	157	1	0	0	0	0	1	0	0	0	16984	652	23	1	256	1	UBL4B	1	110655410	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	44584620	110655410	138595211	4	28290											
PIP5K1A	8394	broad.mit.edu	37	chr1	151204248	151204248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgtcctcatgcaagatttCtacgtggttgagagtatctt	9	15	10	7	1	3	2	1	1	2	2	4	4	4	2	1	1	2	3	1	1	3	5			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:151204248C>G	ENST00000409426.1	+	4	748	c.303C>G	c.(301-303)ttC>ttG	p.F101L	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.F101L|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.F113L|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.F100L			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	113	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCAAGATTTCTACGTGGTTG	0.483													27	54					0	0	0	0	G	151204248	C	G	151204248	3	3	157	1	0	0	0	0	1	0	0	0	12011	912	32	2	357	2	PIP5K1A	1	151204248	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	40548838	151204248	98046373	5	28291											
CELF3	11189	broad.mit.edu	37	chr1	151688428	151688428	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactgttcgaagatgggcttCaggtccttctcctccagatg	8	12	10	11	1	2	2	1	0	1	2	6	3	4	2	3	2	1	2	3	2	2	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:151688428C>G	ENST00000290583.4	-	1	862	c.69G>C	c.(67-69)ctG>ctC	p.L23L	RIIAD1_ENST00000326413.3_Intron|CELF3_ENST00000290585.4_Silent_p.L23L|AL589765.1_ENST00000442233.2_Intron	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	23	RRM 1.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						AGATGGGCTTCAGGTCCTTCT	0.597													4	28					0	0	0	0	G	151688428	C	G	151688428	2	3	157	1	0	0	0	0	0	0	0	1	3246	813	29	2		2	CELF3	1	151688428	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	484180	151688428	97562193	6	28292											
OR6K2	81448	broad.mit.edu	37	chr1	158669812	158669812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgaagatgagcatcacagCtgtaataatctccactgcat	14	10	7	10	0	2	3	1	2	1	1	3	3	2	3	1	0	3	4	1	0	3	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:158669812C>T	ENST00000359610.2	-	1	674	c.631G>A	c.(631-633)Gct>Act	p.A211T		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGCATCACAGCTGTAATAATC	0.502													19	42					0	0	0	0	T	158669812	C	T	158669812	3	4	157	1	0	0	0	0	1	0	0	0	11273	797	28	4	347	4	OR6K2	1	158669812	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	6981384	158669812	90580809	7	28293											
CADM3	57863	broad.mit.edu	37	chr1	159162470	159162470	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagggcgagtacacctgctCaatcttcactatgcctgtgc	8	10	10	13	2	3	0	2	0	1	0	3	2	3	0	2	1	4	2	2	1	3	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:159162470C>G	ENST00000368125.4	+	3	489	c.332C>G	c.(331-333)tCa>tGa	p.S111*	CADM3_ENST00000368124.4_Nonsense_Mutation_p.S145*	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	111	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TACACCTGCTCAATCTTCACT	0.537													26	45					0	0	0	0	G	159162470	C	G	159162470	4	3	157	1	0	0	0	0	0	1	0	0	2593	838	29	2	448	2	CADM3	1	159162470	Nonsense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	492658	159162470	90088151	8	28294											
HMCN1	83872	broad.mit.edu	37	chr1	185815164	185815164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttatcttcacagaaattgGcccagtgacaattaccacag	13	12	6	10	0	2	2	1	1	1	1	2	2	2	2	2	1	1	0	2	1	4	5			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:185815164G>T	ENST00000271588.4	+	2	504	c.275G>T	c.(274-276)gGc>gTc	p.G92V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G92V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	92	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACAGAAATTGGCCCAGTGACA	0.368													7	35					1.12685e-05	1.18279e-05	1	0	T	185815164	G	T	185815164	3	4	157	1	0	0	0	0	1	0	0	0	7270	1203	42	4	281	4	HMCN1	1	185815164	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	26652694	185815164	63435457	9	28295											
IRF6	3664	broad.mit.edu	37	chr1	209969813	209969813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattctctgctcttattgaGagcacagcgcagctgggcct	8	11	11	11	1	2	1	0	1	2	1	3	3	2	1	1	1	4	4	1	1	2	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:209969813G>A	ENST00000367021.3	-	4	431	c.259C>T	c.(259-261)Ctc>Ttc	p.L87F	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	87					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTCTTATTGAGAGCACAGCGC	0.527										HNSCC(57;0.16)			18	35					0	0	0	0	A	209969813	G	A	209969813	3	1	157	1	0	0	0	0	1	0	0	0	7887	942	33	2	1168	2	IRF6	1	209969813	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	24154649	209969813	39280808	10	28296											
MRPL55	128308	broad.mit.edu	37	chr1	228295553	228295553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggtccggtggccttcacgGtgctctgcctcagccggctg	3	9	14	15	3	3	0	2	0	1	0	4	0	4	0	4	5	3	2	4	5	0	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:228295553G>A	ENST00000366731.5	-	5	945	c.152C>T	c.(151-153)aCc>aTc	p.T51I	MRPL55_ENST00000336520.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366736.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366744.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366741.1_Missense_Mutation_p.T15I|MRPL55_ENST00000348259.5_Missense_Mutation_p.T15I|MRPL55_ENST00000366732.1_Missense_Mutation_p.T12I|MRPL55_ENST00000366747.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366734.1_Missense_Mutation_p.T15I|MRPL55_ENST00000336300.5_Missense_Mutation_p.T15I|MRPL55_ENST00000295008.4_Missense_Mutation_p.T15I|MRPL55_ENST00000366733.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366739.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366738.1_Missense_Mutation_p.T51I|MRPL55_ENST00000391867.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366735.1_Missense_Mutation_p.T15I|MRPL55_ENST00000411464.2_Missense_Mutation_p.T15I|MRPL55_ENST00000366742.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366740.1_Missense_Mutation_p.T15I|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366746.3_Missense_Mutation_p.T15I|MRPL55_ENST00000430433.1_Missense_Mutation_p.T51I			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	15					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				GGCCTTCACGGTGCTCTGCCT	0.617													9	26					0	0	0	0	A	228295553	G	A	228295553	3	1	157	1	0	0	0	0	1	0	0	0	9889	1261	44	4	350	4	MRPL55	1	228295553	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	18325740	228295553	20955068	11	28297											
LYST	1130	broad.mit.edu	37	chr1	235973499	235973499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttctttggttgctaagcGgtcaagtttagctttggggt	5	17	13	6	1	2	0	1	0	1	0	2	0	2	0	0	4	3	5	0	4	3	7			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:235973499G>A	ENST00000389794.3	-	5	793	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	LYST_ENST00000536965.1_Missense_Mutation_p.R207C|LYST_ENST00000389793.2_Missense_Mutation_p.R207C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	207					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTTGCTAAGCGGTCAAGTTTA	0.413													5	135					0	0	0	0	A	235973499	G	A	235973499	3	1	157	1	0	0	0	0	1	0	0	0	9193	1116	39	1	10982	1	LYST	1	235973499	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	7677946	235973499	13277122	12	28298											
OR2T33	391195	broad.mit.edu	37	chr1	248436971	248436971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtggagccggtggtccCagtgaatcaggagaatcatg	9	8	16	8	2	2	2	2	1	0	1	3	4	3	3	2	4	1	0	2	4	2	0			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:248436971C>A	ENST00000318021.2	-	1	167	c.146G>T	c.(145-147)tGg>tTg	p.W49L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCGGTGGTCCCAGTGAATCAG	0.522													18	49					1.30998e-17	1.43613e-17	1	0	A	248436971	C	A	248436971	3	1	157	1	0	0	0	0	1	0	0	0	11095	595	21	4	819	4	OR2T33	1	248436971	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	12463472	248436971	813650	13	28299											
APOB	338	broad.mit.edu	37	chr2	21233458	21233458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcaggtttctctgtacGttttccagtacaactataat	9	17	6	9	1	2	0	1	0	1	0	4	0	3	0	1	1	4	5	1	1	5	8			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:21233458G>A	ENST00000233242.1	-	26	6409	c.6282C>T	c.(6280-6282)aaC>aaT	p.N2094N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2094	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCTCTGTACGTTTTCCAGTA	0.363													10	40					0	0	0	0	A	21233458	G	A	21233458	2	1	157	1	0	0	0	0	0	0	0	1	787	1136	40	1		1	APOB	2	21233458	Silent	SNP	G	TCGA-CQ-7068-01A-11D-2078-08		21233458	221965915	14	28300											
UBXN2A	165324	broad.mit.edu	37	chr2	24222567	24222567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatatcaaagacttcattGaaaaataccaaggatctcaa	18	9	5	9	0	3	2	3	1	1	1	4	3	3	3	2	1	1	0	2	1	7	4			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:24222567G>A	ENST00000309033.4	+	7	854	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	UBXN2A_ENST00000404924.1_Missense_Mutation_p.E204K|UBXN2A_ENST00000535786.1_Missense_Mutation_p.E151K|UBXN2A_ENST00000446425.2_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	204	UBX.									endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						AGACTTCATTGAAAAATACCA	0.363													19	36					0	0	0	0	A	24222567	G	A	24222567	3	1	157	1	0	0	0	0	1	0	0	0	17010	1291	45	2	632	2	UBXN2A	2	24222567	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	2989109	24222567	218976806	15	28301											
DHX57	90957	broad.mit.edu	37	chr2	39065051	39065051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagattcaccttttcaaaatCcatgatggacattgttttga	13	15	6	7	0	2	3	2	2	0	1	3	4	3	4	2	1	0	1	2	1	3	6			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:39065051C>T	ENST00000295373.6	-	13	2590	c.2464G>A	c.(2464-2466)Gat>Aat	p.D822N		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	822							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTTTCAAAATCCATGATGGAC	0.358													20	34					0	0	0	0	T	39065051	C	T	39065051	3	4	157	1	0	0	0	0	1	0	0	0	4550	855	30	2	1744	2	DHX57	2	39065051	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	14842484	39065051	204134322	16	28302											
BUB1	699	broad.mit.edu	37	chr2	111419371	111419371	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actggaagacatggcgctctCagttcctgctgggagcctac	8	9	12	12	1	1	1	1	0	1	1	3	3	2	3	2	3	3	3	2	3	2	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:111419371C>T	ENST00000535254.1	-	9	1012	c.945G>A	c.(943-945)ctG>ctA	p.L315L	BUB1_ENST00000302759.6_Silent_p.L335L|BUB1_ENST00000409311.1_Silent_p.L335L	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	335					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATGGCGCTCTCAGTTCCTGCT	0.453													25	48					0	0	0	0	T	111419371	C	T	111419371	2	4	157	1	0	0	0	0	0	0	0	1	1579	813	29	2		2	BUB1	2	111419371	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	72354320	111419371	131780002	17	28303											
IWS1	55677	broad.mit.edu	37	chr2	128262665	128262665	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttccgaatcactgattcGgggtttgggaagctcttcat	8	14	10	9	2	3	1	2	1	1	0	5	3	4	2	1	3	1	2	1	3	2	4			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:128262665G>A	ENST00000295321.4	-	3	1073	c.814C>T	c.(814-816)Cga>Tga	p.R272*	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Nonsense_Mutation_p.R279*	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	272	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCACTGATTCGGGGTTTGGGA	0.522													75	153					0	0	0	0	A	128262665	G	A	128262665	4	1	157	1	0	0	0	0	0	1	0	0	7984	1124	39	1	1693	1	IWS1	2	128262665	Nonsense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	16843294	128262665	114936708	18	28304											
XIRP2	129446	broad.mit.edu	37	chr2	168103818	168103818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggttgctgtccagaggaaCaaaaatagtcttcttcagcc	12	10	9	10	0	3	1	1	0	2	1	4	2	4	2	2	2	3	2	2	2	4	4			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:168103818C>A	ENST00000409195.1	+	9	6005	c.5916C>A	c.(5914-5916)aaC>aaA	p.N1972K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.N1972K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N1750K|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1797					actin cytoskeleton organization	cell junction	actin binding	p.N1972K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCAGAGGAACAAAAATAGTC	0.458													13	23					9.05144e-12	9.8501e-12	1	0	A	168103818	C	A	168103818	3	1	157	1	0	0	0	0	1	0	0	0	17526	477	17	4	5946	4	XIRP2	2	168103818	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	39841153	168103818	75095555	19	28305											
TTN	7273	broad.mit.edu	37	chr2	179482531	179482531	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatcagcaactttgacgaaGggtgtggctgcacttggttt	8	12	14	7	1	1	1	1	1	0	0	1	3	1	2	0	4	3	4	0	4	2	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:179482531G>T	ENST00000589042.1	-	253	47771	c.47547C>A	c.(47545-47547)ccC>ccA	p.P15849P	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.P14208P|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.P6909P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.P13281P|TTN_ENST00000460472.2_Silent_p.P6784P|TTN_ENST00000342175.6_Silent_p.P6976P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14208	Fibronectin type-III 15.						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)			CTTTGACGAAGGGTGTGGCTG	0.408													4	58					0.000602214	0.000610464	1	0	T	179482531	G	T	179482531	2	4	157	1	0	0	0	0	0	0	0	1	16831	987	35	4		4	TTN	2	179482531	Silent	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	11378713	179482531	63716842	20	28306											
TTN	7273	broad.mit.edu	37	chr2	179529198	179529198	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaatgtacctttgacaggtAcaacttcagccctttgggga	11	11	10	9	0	1	2	1	1	0	1	1	3	1	3	2	3	4	2	2	3	4	5			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:179529198A>G	ENST00000589042.1	-	168	36493	c.36269T>C	c.(36268-36270)gTa>gCa	p.V12090A	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10239	Ig-like 80.						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)			TTTGACAGGTACAACTTCAGC	0.403													32	73					0	0	0	0	G	179529198	A	G	179529198	3	3	157	1	0	0	0	0	1	0	0	0	16831	406	14	5		5	TTN	2	179529198	Missense_Mutation	SNP	A	TCGA-CQ-7068-01A-11D-2078-08	46667	179529198	63670175	21	28307											
TTN	7273	broad.mit.edu	37	chr2	179549471	179549471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactggtttctttggctcttCtggcacttaaaagataccag	10	14	8	9	0	3	1	0	0	3	1	3	1	3	1	1	3	2	3	1	3	4	5			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:179549471C>T	ENST00000589042.1	-	131	32784	c.32560G>A	c.(32560-32562)Gaa>Aaa	p.E10854K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10537K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9610K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10537	Glu-rich.|Pro-rich.						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)			TTTGGCTCTTCTGGCACTTAA	0.388													12	26					0	0	0	0	T	179549471	C	T	179549471	3	4	157	1	0	0	0	0	1	0	0	0	16831	922	32	2	71897	2	TTN	2	179549471	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	20273	179549471	63649902	22	28308											
CASP8	841	broad.mit.edu	37	chr2	202149659	202149659	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaccacagtaacatggActgcttcatctgctgtatcc	10	11	8	12	0	2	0	1	0	1	0	3	2	3	2	2	2	3	4	2	2	2	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:202149659A>G	ENST00000358485.4	+	8	1296	c.1100A>G	c.(1099-1101)gAc>gGc	p.D367G	CASP8_ENST00000264275.5_Missense_Mutation_p.D325G|CASP8_ENST00000323492.7_Missense_Mutation_p.D293G|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000432109.2_Missense_Mutation_p.D308G|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.D224G	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	308					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGTAACATGGACTGCTTCATC	0.468										HNSCC(4;0.00038)			61	39					0	0	0	0	G	202149659	A	G	202149659	3	3	157	1	0	0	0	0	1	0	0	0	2702	275	10	5	1230	5	CASP8	2	202149659	Missense_Mutation	SNP	A	TCGA-CQ-7068-01A-11D-2078-08	22600188	202149659	41049714	23	28309											
INHA	3623	broad.mit.edu	37	chr2	220439822	220439822	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcggaccagaccacccagTggaggggagagagcccgacg	11	2	15	13	3	0	2	0	0	0	2	1	7	0	5	4	4	1	0	4	4	0	0	rs139608664	byFrequency	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:220439822T>C	ENST00000243786.2	+	2	855	c.675T>C	c.(673-675)agT>agC	p.S225S		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	225					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GACCACCCAGTGGAGGGGAGA	0.692													26	13					0	0	0	0	C	220439822	T	C	220439822	2	2	157	1	0	0	0	0	0	0	0	1	7793	1693	59	5		5	INHA	2	220439822	Silent	SNP	T	TCGA-CQ-7068-01A-11D-2078-08	18290163	220439822	22759551	24	28310											
ESPNL	339768	broad.mit.edu	37	chr2	239040266	239040266	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacagcggctggggtccCgctcccagcagggcagcttc	6	5	14	16	2	0	0	0	0	0	0	3	0	2	0	2	4	4	6	2	4	0	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:239040266C>G	ENST00000343063.3	+	9	3174	c.2911C>G	c.(2911-2913)Cgc>Ggc	p.R971G	ESPNL_ENST00000409506.1_Missense_Mutation_p.R603G|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.R927G	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	971										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGGGGTCCCGCTCCCAGCA	0.652													19	10					0	0	0	0	G	239040266	C	G	239040266	3	3	157	1	0	0	0	0	1	0	0	0	5293	652	23	3	2945	3	ESPNL	2	239040266	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	18600444	239040266	4159107	25	28311											
TTC21A	199223	broad.mit.edu	37	chr3	39178436	39178436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagttcctgaacaaggcaCgcaaggacagcacttggggc	13	6	12	10	1	0	1	0	1	0	0	1	2	1	2	1	4	2	4	1	4	5	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:39178436C>T	ENST00000301819.6	+	24	3343	c.3166C>T	c.(3166-3168)Cgc>Tgc	p.R1056C	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1007C|TTC21A_ENST00000431162.2_Missense_Mutation_p.R1055C	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1055							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAACAAGGCACGCAAGGACAG	0.547													10	58					0	0	0	0	T	39178436	C	T	39178436	3	4	157	1	0	0	0	0	1	0	0	0	16783	536	19	1	3260	1	TTC21A	3	39178436	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08		39178436	158843994	26	28312											
MAP4	4134	broad.mit.edu	37	chr3	47912526	47912526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaccacccctgcagcggggGctgtcccactgagagtggtg	7	6	15	13	1	0	1	0	1	0	1	1	3	1	1	4	3	3	2	4	3	1	0			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:47912526G>A	ENST00000426837.2	-	15	6158	c.6071C>T	c.(6070-6072)gCc>gTc	p.A2024V	MAP4_ENST00000441748.2_Missense_Mutation_p.A31V|MAP4_ENST00000395734.3_Missense_Mutation_p.A879V|MAP4_ENST00000420772.2_Missense_Mutation_p.A610V|MAP4_ENST00000383737.4_Missense_Mutation_p.A607V|MAP4_ENST00000264724.11_Missense_Mutation_p.A614V|MAP4_ENST00000360240.6_Missense_Mutation_p.A879V			P27816	MAP4_HUMAN	microtubule-associated protein 4	879					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGCAGCGGGGGCTGTCCCACT	0.587													18	41					0	0	0	0	A	47912526	G	A	47912526	3	1	157	1	0	0	0	0	1	0	0	0	9327	1203	42	4	1001	4	MAP4	3	47912526	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	8734090	47912526	150109904	27	28313											
EPHA3	2042	broad.mit.edu	37	chr3	89498433	89498433	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagcctaccgcaagttcaCgtcagccagcgatgtatgga	11	9	10	11	3	2	0	2	0	0	0	2	2	2	1	3	1	4	3	3	1	5	5			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:89498433C>G	ENST00000336596.2	+	14	2630	c.2405C>G	c.(2404-2406)aCg>aGg	p.T802R	EPHA3_ENST00000494014.1_Missense_Mutation_p.T802R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	802	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGCAAGTTCACGTCAGCCAGC	0.438										TSP Lung(6;0.00050)			25	71					0	0	0	0	G	89498433	C	G	89498433	3	3	157	1	0	0	0	0	1	0	0	0	5206	536	19	3	2485	3	EPHA3	3	89498433	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	41585907	89498433	108523997	28	28314											
GAP43	2596	broad.mit.edu	37	chr3	115395076	115395076	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggggtggagaagaagggaGaaggcaccactactgccgaa	14	4	16	7	1	0	3	0	0	0	3	0	6	0	3	2	5	2	1	2	5	5	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:115395076G>C	ENST00000393780.3	+	3	823	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	GAP43_ENST00000305124.6_Missense_Mutation_p.E83Q	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	83					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GAAGAAGGGAGAAGGCACCAC	0.562													10	21					0	0	0	0	C	115395076	G	C	115395076	3	2	157	1	0	0	0	0	1	0	0	0	6284	943	33	2	395	2	GAP43	3	115395076	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	25896643	115395076	82627354	29	28315											
DNAJB8	165721	broad.mit.edu	37	chr3	128181438	128181438	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgccgttcacagtcacCgacttgagctgcccgtcttc	5	12	8	16	3	3	1	2	1	1	0	5	2	4	1	4	0	3	2	4	0	0	4			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:128181438C>T	ENST00000469083.1	-	2	3208	c.651G>A	c.(649-651)tcG>tcA	p.S217S	DNAJB8_ENST00000319153.3_Silent_p.S217S			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	217					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCACAGTCACCGACTTGAGCT	0.632													28	67					0	0	0	0	T	128181438	C	T	128181438	2	4	157	1	0	0	0	0	0	0	0	1	4662	639	23	1		1	DNAJB8	3	128181438	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	12786362	128181438	69840992	30	28316											
LSG1	55341	broad.mit.edu	37	chr3	194392825	194392825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgacgatggcttcggctccGctgagtctgatggcgcataa	7	10	14	10	4	1	3	0	3	1	0	3	4	2	3	1	3	0	4	1	3	1	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:194392825G>A	ENST00000265245.5	-	1	381	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	LSG1_ENST00000480853.1_Intron	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	23					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CTTCGGCTCCGCTGAGTCTGA	0.597													13	24					0	0	0	0	A	194392825	G	A	194392825	3	1	157	1	0	0	0	0	1	0	0	0	9113	1086	38	1	1965	1	LSG1	3	194392825	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	66211387	194392825	3629605	31	28317											
AFAP1	60312	broad.mit.edu	37	chr4	7795475	7795475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaatgtagtcatagtgcaGagcctccgggtctgtggacg	9	10	13	9	2	3	1	2	0	1	1	4	2	4	2	2	2	2	2	2	2	3	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:7795475G>A	ENST00000420658.1	-	11	1617	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000360265.4_Silent_p.L449L|AFAP1_ENST00000358461.2_Silent_p.L449L|AFAP1_ENST00000382543.3_Silent_p.L449L	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	449						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TCATAGTGCAGAGCCTCCGGG	0.498													23	74					0	0	0	0	A	7795475	G	A	7795475	2	1	157	1	0	0	0	0	0	0	0	1	353	933	33	2		2	AFAP1	4	7795475	Silent	SNP	G	TCGA-CQ-7068-01A-11D-2078-08		7795475	183358801	32	28318											
SLIT2	9353	broad.mit.edu	37	chr4	20258327	20258327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaataacatcacaagaattaCgaagacagattttgctggtc	17	10	7	7	1	1	3	1	0	0	3	2	4	1	3	0	1	3	1	0	1	6	4			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:20258327C>T	ENST00000504154.1	+	2	464	c.212C>T	c.(211-213)aCg>aTg	p.T71M	SLIT2_ENST00000273739.5_Missense_Mutation_p.T71M|SLIT2_ENST00000503837.1_Missense_Mutation_p.T71M|SLIT2_ENST00000503823.1_Missense_Mutation_p.T71M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	71					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.T71M(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACAAGAATTACGAAGACAGAT	0.294													14	28					0	0	0	0	T	20258327	C	T	20258327	3	4	157	1	0	0	0	0	1	0	0	0	14828	536	19	1	218	1	SLIT2	4	20258327	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	12462852	20258327	170895949	33	28319											
PCDH7	5099	broad.mit.edu	37	chr4	30726069	30726069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcctactgttcagcttcatCcccagtcaccaactgcagga	9	10	7	15	0	3	0	3	0	0	0	4	1	4	1	4	1	5	3	4	1	2	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:30726069C>T	ENST00000361762.2	+	1	4033	c.3025C>T	c.(3025-3027)Ccc>Tcc	p.P1009S	PCDH7_ENST00000543491.1_Missense_Mutation_p.P1009S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1009					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCAGCTTCATCCCCAGTCACC	0.507													13	29					0	0	0	0	T	30726069	C	T	30726069	3	4	157	1	0	0	0	0	1	0	0	0	11587	855	30	2	3027	2	PCDH7	4	30726069	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	10467742	30726069	160428207	34	28320											
GYPA	2993	broad.mit.edu	37	chr4	145035857	145035857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaacctggattttctatttCaacagaacttaaaggcacgt	13	12	6	10	1	2	1	1	0	1	1	2	2	2	2	2	2	3	1	2	2	6	5			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:145035857C>T	ENST00000360771.4	-	6	536	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Missense_Mutation_p.E76K|GYPA_ENST00000512064.1_Missense_Mutation_p.E128K|GYPA_ENST00000504786.1_Missense_Mutation_p.E109K|GYPA_ENST00000503627.1_Missense_Mutation_p.E96K|GYPA_ENST00000535709.1_Missense_Mutation_p.E115K|GYPA_ENST00000324022.10_Missense_Mutation_p.E108K|GYPB_ENST00000283126.7_Intron	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	141					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTTTCTATTTCAACAGAACTT	0.353													11	26					0	0	0	0	T	145035857	C	T	145035857	3	4	157	1	0	0	0	0	1	0	0	0	6958	835	29	2	39	2	GYPA	4	145035857	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	114309788	145035857	46118419	35	28321											
TLL1	7092	broad.mit.edu	37	chr4	166929097	166929097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttatccctggttcttaggtCaagagtacaattttctgaag	10	16	8	7	0	3	2	1	1	2	1	4	2	4	2	1	2	1	2	1	2	6	7			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:166929097C>G	ENST00000061240.2	+	7	1461	c.814C>G	c.(814-816)Caa>Gaa	p.Q272E	TLL1_ENST00000507499.1_Missense_Mutation_p.Q272E|TLL1_ENST00000513213.1_Missense_Mutation_p.Q272E	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	272	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTTCTTAGGTCAAGAGTACAA	0.408													17	39					0	0	0	0	G	166929097	C	G	166929097	3	3	157	1	0	0	0	0	1	0	0	0	16039	827	29	2	840	2	TLL1	4	166929097	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	21893240	166929097	24225179	36	28322											
FAM149A	25854	broad.mit.edu	37	chr4	187086549	187086549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggttcaaacgtcacggagCaggttccccccgctagtcac	8	8	10	15	3	3	0	3	0	0	0	4	1	4	1	3	3	2	4	3	3	2	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:187086549C>A	ENST00000356371.5	+	11	1968	c.1968C>A	c.(1966-1968)agC>agA	p.S656R	FAM149A_ENST00000389354.5_Missense_Mutation_p.S365R|FAM149A_ENST00000514153.1_Missense_Mutation_p.S365R|FAM149A_ENST00000502970.1_Missense_Mutation_p.S365R|FAM149A_ENST00000227065.4_Missense_Mutation_p.S365R|FAM149A_ENST00000503432.1_Missense_Mutation_p.S365R			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	656										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CGTCACGGAGCAGGTTCCCCC	0.542													10	33					6.40141e-05	6.62524e-05	1	0	A	187086549	C	A	187086549	3	1	157	1	0	0	0	0	1	0	0	0	5496	709	25	4	1125	4	FAM149A	4	187086549	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	20157452	187086549	4067727	37	28323											
ADCY2	108	broad.mit.edu	37	chr5	7773108	7773108	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttcctgcgggtaaactatGagctgaagatgttgatcatg	10	13	12	6	1	1	4	1	3	0	1	2	4	2	4	1	1	3	4	1	1	4	4			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:7773108G>C	ENST00000338316.4	+	18	2367	c.2278G>C	c.(2278-2280)Gag>Cag	p.E760Q	ADCY2_ENST00000537121.1_Missense_Mutation_p.E580Q	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	760					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGTAAACTATGAGCTGAAGAT	0.502													30	75					0	0	0	0	C	7773108	G	C	7773108	3	2	157	1	0	0	0	0	1	0	0	0	294	1291	45	2	2348	2	ADCY2	5	7773108	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08		7773108	173142152	38	28324											
GPBP1	65056	broad.mit.edu	37	chr5	56546873	56546873	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaatgaaattcctcaagaGaatggcaatgcctcagtgat	16	9	9	7	0	2	3	2	2	0	1	3	5	3	3	2	1	1	1	2	1	6	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:56546873G>C	ENST00000424459.3	+	11	2399	c.1125G>C	c.(1123-1125)gaG>gaC	p.E375D	GPBP1_ENST00000506184.2_Missense_Mutation_p.E355D|GPBP1_ENST00000538707.1_Missense_Mutation_p.E362D|GPBP1_ENST00000511209.1_Missense_Mutation_p.E347D|GPBP1_ENST00000454432.2_Missense_Mutation_p.E375D|GPBP1_ENST00000514387.2_Missense_Mutation_p.E184D|GPBP1_ENST00000264779.6_Missense_Mutation_p.E362D	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TTCCTCAAGAGAATGGCAATG	0.398													12	38					0	0	0	0	C	56546873	G	C	56546873	3	2	157	1	0	0	0	0	1	0	0	0	6644	933	33	2	1120	2	GPBP1	5	56546873	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	48773765	56546873	124368387	39	28325											
CTNNA1	1495	broad.mit.edu	37	chr5	138260216	138260216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagaatcacattttggaaGatgtgaacaaatgtgtcatt	15	12	9	5	0	2	3	2	1	0	2	2	5	2	4	0	1	1	0	0	1	4	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:138260216G>C	ENST00000302763.7	+	12	1654	c.1564G>C	c.(1564-1566)Gat>Cat	p.D522H	CTNNA1_ENST00000518825.1_Missense_Mutation_p.D522H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D419H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D152H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	522					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATTTTGGAAGATGTGAACAA	0.473													5	17					0	0	0	0	C	138260216	G	C	138260216	3	2	157	1	0	0	0	0	1	0	0	0	4044	942	33	2	1606	2	CTNNA1	5	138260216	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	81713343	138260216	42655044	40	28326											
SLC36A2	153201	broad.mit.edu	37	chr5	150723750	150723750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcttaccaggatgcccgcGttcttcacagcgaggggtag	7	10	12	12	3	3	0	1	0	2	0	4	2	3	1	2	3	3	2	2	3	2	4			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:150723750G>A	ENST00000335244.4	-	2	372	c.243C>T	c.(241-243)aaC>aaT	p.N81N	SLC36A2_ENST00000521967.1_Silent_p.N81N	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	81					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGATGCCCGCGTTCTTCACAG	0.547													5	17					0	0	0	0	A	150723750	G	A	150723750	2	1	157	1	0	0	0	0	0	0	0	1	14682	1136	40	1		1	SLC36A2	5	150723750	Silent	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	12463534	150723750	30191510	41	28327											
GCNT2	2651	broad.mit.edu	37	chr6	10556695	10556695	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacctcttcataatttctgtCtctagtgtaattatttttat	9	22	3	7	0	4	0	1	0	3	0	5	0	4	0	1	0	1	1	1	0	6	10	rs56147536		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:10556695C>G	ENST00000316170.3	+	1	456	c.39C>G	c.(37-39)gtC>gtG	p.V13V	GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	14						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TAATTTCTGTCTCTAGTGTAA	0.393													17	48					0	0	0	0	G	10556695	C	G	10556695	2	3	157	1	0	0	0	0	0	0	0	1	6350	900	32	2		2	GCNT2	6	10556695	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08		10556695	160558372	42	28328											
TRIM27	5987	broad.mit.edu	37	chr6	28871933	28871933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catggggcagatgatcagagGagctgcacttttccctcccg	8	9	12	12	1	1	3	1	1	0	2	3	4	3	4	2	3	2	3	2	3	0	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:28871933G>A	ENST00000377199.3	-	8	1812	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	TRIM27_ENST00000377194.3_3'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	486	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						ATGATCAGAGGAGCTGCACTT	0.522			T	RET	papillary thyroid								22	69					0	0	0	0	A	28871933	G	A	28871933	3	1	157	1	0	0	0	0	1	0	0	0	16596	1174	41	2	89	2	TRIM27	6	28871933	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	18315238	28871933	142243134	43	28329											
TRERF1	55809	broad.mit.edu	37	chr6	42224469	42224469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcatggttccttaccatCacatcacctttggcctcaaa	9	15	4	13	0	4	0	4	0	0	0	5	0	5	0	4	2	1	1	4	2	2	5			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:42224469C>T	ENST00000541110.1	-	12	3205	c.2637G>A	c.(2635-2637)gtG>gtA	p.V879V	TRERF1_ENST00000372922.4_Silent_p.V859V|TRERF1_ENST00000372917.4_Silent_p.V776V|TRERF1_ENST00000354325.2_Silent_p.V776V|TRERF1_ENST00000340840.2_Silent_p.V776V			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	859	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTTACCATCACATCACCTT	0.403													14	37					0	0	0	0	T	42224469	C	T	42224469	2	4	157	1	0	0	0	0	0	0	0	1	16570	813	29	2		2	TRERF1	6	42224469	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	13352536	42224469	128890598	44	28330											
RIMS1	22999	broad.mit.edu	37	chr6	72889449	72889449	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaagcacgactccaagagCgatcgcggtctcagacaccc	13	4	10	14	4	1	3	1	0	1	3	4	5	2	3	2	1	2	1	2	1	2	0			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:72889449C>T	ENST00000264839.7	+	5	643	c.643C>T	c.(643-645)Cga>Tga	p.R215*	RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R215*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R215*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R215*			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	215					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)				ACTCCAAGAGCGATCGCGGTC	0.587													12	40					0	0	0	0	T	72889449	C	T	72889449	4	4	157	1	0	0	0	0	0	1	0	0	13452	760	27	1	661	1	RIMS1	6	72889449	Nonsense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	30664980	72889449	98225618	45	28331											
BEND3	57673	broad.mit.edu	37	chr6	107390676	107390676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaccagcaggcgcgaggcGaagttgccgatggacaggct	9	5	16	11	4	0	0	0	0	0	0	0	4	0	1	2	4	3	4	2	4	1	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:107390676G>A	ENST00000429433.2	-	5	2368	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	BEND3_ENST00000369042.1_Silent_p.F573F	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	573	BEN 3.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGCGCGAGGCGAAGTTGCCGA	0.637													27	40					0	0	0	0	A	107390676	G	A	107390676	2	1	157	1	0	0	0	0	0	0	0	1	1403	1049	37	1		1	BEND3	6	107390676	Silent	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	34501227	107390676	63724391	46	28332											
MAP7	9053	broad.mit.edu	37	chr6	136687111	136687111	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggtggcaaggaggatgtCggtctgggtgtgccaggcaa	7	7	19	8	2	1	0	0	0	1	0	2	2	1	2	2	7	1	2	2	7	2	0	rs143331676	byFrequency	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:136687111C>T	ENST00000354570.3	-	10	1445	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	MAP7_ENST00000432797.2_Silent_p.P199P|MAP7_ENST00000454590.1_Silent_p.P367P|MAP7_ENST00000544465.1_Silent_p.P330P|MAP7_ENST00000438100.2_Silent_p.P330P	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	345	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGGAGGATGTCGGTCTGGGTG	0.592													15	42					0	0	0	0	T	136687111	C	T	136687111	2	4	157	1	0	0	0	0	0	0	0	1	9335	871	31	1		1	MAP7	6	136687111	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	29296435	136687111	34427956	47	28333											
GTF2IRD2	84163	broad.mit.edu	37	chr7	74239555	74239556	+	In_Frame_Ins	INS	-	-	TAC																															ttcacagggcagggaggtttINScacctcacacagtccctctg																										TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:74239555_74239556insTAC	ENST00000405086.2	-	4	453_454	c.264_265insGTA	c.(262-267)gtaacc>gtGTAaacc	p.88_89VT>V*T	GTF2IRD2_ENST00000453619.2_In_Frame_Ins_p.88_89VT>V*T|GTF2IRD2_ENST00000361071.5_In_Frame_Ins_p.88_89VT>V*T	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						CAGGGAGGTTTCACCTCACACA	0.485													7	33	---	---	---	---					TAC	74239556	-	TAC	74239555	7	5	157	1	0	1	1	0	0	0	0	0	6919	1792	62	0	2636	0	GTF2IRD2	7	74239555	In_Frame_Ins	INS	-	TCGA-CQ-7068-01A-11D-2078-08		74239555	84899108	48	28334											
HBP1	26959	broad.mit.edu	37	chr7	106826299	106826299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttacattcctatgcacGccctccaccagtgtcctctt	8	13	5	15	1	1	0	0	0	1	0	4	0	4	0	5	0	2	2	5	0	3	5	rs151293151	by1000genomes	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:106826299G>A	ENST00000222574.4	+	4	638	c.452G>A	c.(451-453)cGc>cAc	p.R151H	HBP1_ENST00000468410.1_Missense_Mutation_p.R151H|HBP1_ENST00000485846.1_Missense_Mutation_p.R151H	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	151					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TCCTATGCACGCCCTCCACCA	0.423													39	61					0	0	0	0	A	106826299	G	A	106826299	3	1	157	1	0	0	0	0	1	0	0	0	7035	1087	38	1	462	1	HBP1	7	106826299	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	32586744	106826299	52312364	49	28335											
NOS3	4846	broad.mit.edu	37	chr7	150695737	150695737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggatggctctgtgcGgggggacccagccaacgtgg	7	5	18	11	2	1	0	0	0	1	0	1	2	1	2	2	6	4	3	2	6	1	0			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:150695737G>A	ENST00000297494.3	+	7	1142	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	NOS3_ENST00000484524.1_Missense_Mutation_p.R262Q|NOS3_ENST00000461406.1_Missense_Mutation_p.R56Q|NOS3_ENST00000467517.1_Missense_Mutation_p.R262Q	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	262	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGCTCTGTGCGGGGGGACCCA	0.652													3	8					0	0	0	0	A	150695737	G	A	150695737	3	1	157	1	0	0	0	0	1	0	0	0	10614	1116	39	1	807	1	NOS3	7	150695737	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	43869438	150695737	8442926	50	28336											
SHH	6469	broad.mit.edu	37	chr7	155599120	155599120	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtggtgatgtccactgcGcggccctcgtagtgcagaga	7	8	15	11	4	0	2	0	1	0	1	2	4	1	2	2	2	2	2	2	2	1	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:155599120G>A	ENST00000297261.2	-	2	582	c.432C>T	c.(430-432)cgC>cgT	p.R144R		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	144			R -> P (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCCACTGCGCGGCCCTCGT	0.642													13	18					0	0	0	0	A	155599120	G	A	155599120	2	1	157	1	0	0	0	0	0	0	0	1	14367	1074	38	1		1	SHH	7	155599120	Silent	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	4903383	155599120	3539543	51	28337											
TNKS	8658	broad.mit.edu	37	chr8	9564372	9564372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagtttactccactgcacGaggctgcttccaagaaccgt	9	9	10	13	2	0	1	0	0	0	1	2	2	2	1	3	2	4	5	3	2	3	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:9564372G>A	ENST00000310430.6	+	8	1347	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	TNKS_ENST00000518281.1_Missense_Mutation_p.E204K|TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000520408.1_Missense_Mutation_p.E441K	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	441					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCCACTGCACGAGGCTGCTTC	0.438													20	66					0	0	0	0	A	9564372	G	A	9564372	3	1	157	1	0	0	0	0	1	0	0	0	16413	1059	37	1	1351	1	TNKS	8	9564372	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08		9564372	136799650	52	28338											
SLC26A7	115111	broad.mit.edu	37	chr8	92350418	92350418	+	Frame_Shift_Del	DEL	A	A	-																															ttgttattgcaccaatatggAaaacacatatggattagaag																										TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:92350418delA	ENST00000276609.3	+	7	1075	c.836delA	c.(835-837)gafs	p.E279fs	SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.E279fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.E279fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	279						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACCAATATGGAAAACACATAT	0.303													17	56	---	---	---	---					-	92350418	A	-	92350418	7	5	157	1	0	1	0	1	0	0	0	0	14610	246	9	0	858	0	SLC26A7	8	92350418	Frame_Shift_Del	DEL	A	TCGA-CQ-7068-01A-11D-2078-08	82786046	92350418	54013604	53	28339											
DPYS	1807	broad.mit.edu	37	chr8	105393527	105393527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atagggtgcacgctccacagGggtaggtgtgcaagtctgaa	10	8	15	8	1	1	1	0	1	1	0	2	1	2	1	1	4	2	4	1	4	4	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:105393527G>C	ENST00000351513.2	-	9	1591	c.1459C>G	c.(1459-1461)Cct>Gct	p.P487A	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	487					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGCTCCACAGGGGTAGGTGTG	0.473													13	53					0	0	0	0	C	105393527	G	C	105393527	3	2	157	1	0	0	0	0	1	0	0	0	4782	1232	43	4	104	4	DPYS	8	105393527	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	13043109	105393527	40970495	54	28340											
EXT1	2131	broad.mit.edu	37	chr8	119123160	119123160	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtggtgcaagccattcctAccgctgtgttcttctctccg	4	13	11	13	2	2	0	0	0	2	0	5	0	4	0	4	2	3	3	4	2	2	4			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:119123160A>T	ENST00000378204.2	-	1	932	c.126T>A	c.(124-126)ggT>ggA	p.G42G		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	42					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AGCCATTCCTACCGCTGTGTT	0.562			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				7	30					0	0	0	0	T	119123160	A	T	119123160	2	4	157	1	0	0	0	0	0	0	0	1	5361	378	14	5		5	EXT1	8	119123160	Silent	SNP	A	TCGA-CQ-7068-01A-11D-2078-08	13729633	119123160	27240862	55	28341											
FAM135B	51059	broad.mit.edu	37	chr8	139268962	139268962	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgtaaagtgcagatccAccttgagttgaaaatctact	12	12	8	9	1	1	3	0	2	1	1	3	3	3	3	3	0	2	3	3	0	5	4			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:139268962A>G	ENST00000395297.1	-	5	508	c.338T>C	c.(337-339)gTg>gCg	p.V113A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	113										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGCAGATCCACCTTGAGTTG	0.438										HNSCC(54;0.14)			3	25					0	0	0	0	G	139268962	A	G	139268962	3	3	157	1	0	0	0	0	1	0	0	0	5490	159	6	5	3946	5	FAM135B	8	139268962	Missense_Mutation	SNP	A	TCGA-CQ-7068-01A-11D-2078-08	20145802	139268962	7095060	56	28342											
TRAPPC9	83696	broad.mit.edu	37	chr8	141370156	141370156	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctcactcaccctgatcCgacaagaagtccagcatggt	11	8	9	13	1	2	3	2	2	0	1	4	4	4	3	3	1	2	2	3	1	2	0			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:141370156C>G	ENST00000389328.4	-	9	1796	c.1782G>C	c.(1780-1782)tcG>tcC	p.S594S	TRAPPC9_ENST00000438773.2_Silent_p.S496S|TRAPPC9_ENST00000389327.3_Silent_p.S487S	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	496					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CACCCTGATCCGACAAGAAGT	0.498													18	64					0	0	0	0	G	141370156	C	G	141370156	2	3	157	1	0	0	0	0	0	0	0	1	16560	639	23	3		3	TRAPPC9	8	141370156	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	2101194	141370156	4993866	57	28343											
PLEC	5339	broad.mit.edu	37	chr8	144992793	144992793	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccttcaccgggtccagcagGaagcctgtggctgcctgtgc	5	8	13	15	1	1	0	1	0	0	0	2	1	2	1	5	3	4	2	5	3	1	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:144992793G>A	ENST00000322810.4	-	32	11776	c.11607C>T	c.(11605-11607)ttC>ttT	p.F3869F	PLEC_ENST00000398774.2_Silent_p.F3700F|PLEC_ENST00000354589.3_Silent_p.F3732F|PLEC_ENST00000345136.3_Silent_p.F3732F|PLEC_ENST00000436759.2_Silent_p.F3759F|PLEC_ENST00000527096.1_Silent_p.F3755F|PLEC_ENST00000356346.3_Silent_p.F3718F|PLEC_ENST00000354958.2_Silent_p.F3710F|PLEC_ENST00000357649.2_Silent_p.F3736F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3869	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTCCAGCAGGAAGCCTGTGG	0.672													10	33					0	0	0	0	A	144992793	G	A	144992793	2	1	157	1	0	0	0	0	0	0	0	1	12124	1165	41	2		2	PLEC	8	144992793	Silent	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	3622637	144992793	1371229	58	28344											
TLN1	7094	broad.mit.edu	37	chr9	35720835	35720835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatgatatcgatgtagcCggcaatgagctgtgcaatct	11	10	12	8	2	1	2	0	2	1	0	2	4	1	3	1	2	3	4	1	2	4	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:35720835C>T	ENST00000314888.9	-	11	1533	c.1180G>A	c.(1180-1182)Ggc>Agc	p.G394S	TLN1_ENST00000540444.1_Missense_Mutation_p.G394S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	394	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCGATGTAGCCGGCAATGAGC	0.512													9	95					0	0	0	0	T	35720835	C	T	35720835	3	4	157	1	0	0	0	0	1	0	0	0	16041	652	23	1	6633	1	TLN1	9	35720835	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08		35720835	105492596	59	28345											
FBP1	2203	broad.mit.edu	37	chr9	97369181	97369181	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgttaaggctgtagattttAcctttcttttttatcttcac	7	21	5	8	1	3	1	1	0	2	1	4	1	3	1	1	1	1	3	1	1	4	9			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:97369181A>G	ENST00000415431.1	-	6	850	c.621T>C	c.(619-621)ggT>ggC	p.G207G	FBP1_ENST00000375326.4_Silent_p.G207G	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	207					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TGTAGATTTTACCTTTCTTTT	0.512													39	45					0	0	0	0	G	97369181	A	G	97369181	2	3	157	1	0	0	0	0	0	0	0	1	5750	378	14	5		5	FBP1	9	97369181	Silent	SNP	A	TCGA-CQ-7068-01A-11D-2078-08	61648346	97369181	43844250	60	28346											
ZBTB43	23099	broad.mit.edu	37	chr9	129596134	129596134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttccaccggcatgtgacttCttgtactaagtcctacgaag	9	13	8	11	2	1	1	0	1	1	0	3	2	3	1	3	1	2	2	3	1	4	6			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:129596134C>T	ENST00000373464.4	+	3	1610	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F	ZBTB43_ENST00000373457.1_Missense_Mutation_p.S449F|ZBTB43_ENST00000449886.1_Missense_Mutation_p.S449F	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CATGTGACTTCTTGTACTAAG	0.443													37	127					0	0	0	0	T	129596134	C	T	129596134	3	4	157	1	0	0	0	0	1	0	0	0	17639	913	32	2	1348	2	ZBTB43	9	129596134	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	32226953	129596134	11617297	61	28347											
PMPCA	23203	broad.mit.edu	37	chr9	139311437	139311437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacacagttggcctccaccGtttctgccccacagaaaacg	11	7	8	15	2	1	1	0	0	1	1	2	2	2	1	5	1	3	2	5	1	3	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:139311437G>A	ENST00000371717.3	+	7	677	c.668G>A	c.(667-669)cGt>cAt	p.R223H	PMPCA_ENST00000399219.3_Missense_Mutation_p.R92H|PMPCA_ENST00000462616.1_3'UTR	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	223					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGCCTCCACCGTTTCTGCCCC	0.562													7	32					0	0	0	0	A	139311437	G	A	139311437	3	1	157	1	0	0	0	0	1	0	0	0	12212	1145	40	1	694	1	PMPCA	9	139311437	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	9715303	139311437	1901994	62	28348											
ABCA2	20	broad.mit.edu	37	chr9	139912245	139912245	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccggcccgcgcacctccttGagccggtgctccttctccgc	2	8	10	21	5	1	1	0	1	1	0	4	1	3	1	7	2	2	2	7	2	0	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:139912245G>C	ENST00000265662.5	-	16	2352	c.2205C>G	c.(2203-2205)ctC>ctG	p.L735L	ABCA2_ENST00000341511.6_Silent_p.L735L|ABCA2_ENST00000371605.3_Silent_p.L734L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	734					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCACCTCCTTGAGCCGGTGCT	0.692													5	15					0	0	0	0	C	139912245	G	C	139912245	2	2	157	1	0	0	0	0	0	0	0	1	32	1277	45	2		2	ABCA2	9	139912245	Silent	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	600808	139912245	1301186	63	28349											
ITIH5	80760	broad.mit.edu	37	chr10	7618752	7618752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccctgccttctgaggccGcacaggcacatctgtcttca	6	12	8	15	1	4	1	1	1	3	0	5	1	5	1	3	2	1	2	3	2	0	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:7618752G>A	ENST00000256861.6	-	10	1720	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	ITIH5_ENST00000397145.2_Missense_Mutation_p.R548W|ITIH5_ENST00000446830.2_Missense_Mutation_p.R330W|ITIH5_ENST00000397146.2_Missense_Mutation_p.R548W|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.R334W	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	548					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCTGAGGCCGCACAGGCACA	0.587													3	29					0	0	0	0	A	7618752	G	A	7618752	3	1	157	1	0	0	0	0	1	0	0	0	7960	1086	38	1	1329	1	ITIH5	10	7618752	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08		7618752	127915995	64	28350											
KIAA1217	56243	broad.mit.edu	37	chr10	24834871	24834871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaagcagttctctgccctCttctagtggtgacagctcta	9	12	9	11	0	4	1	0	1	4	0	5	2	4	1	1	1	3	3	1	1	4	4			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:24834871C>T	ENST00000376454.3	+	21	5480	c.5450C>T	c.(5449-5451)tCt>tTt	p.S1817F	KIAA1217_ENST00000376462.1_Missense_Mutation_p.S1138F|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1248F|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1223F|KIAA1217_ENST00000396445.1_3'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1817	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCTCTGCCCTCTTCTAGTGGT	0.512													43	91					0	0	0	0	T	24834871	C	T	24834871	3	4	157	1	0	0	0	0	1	0	0	0	8267	913	32	2	5532	2	KIAA1217	10	24834871	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	17216119	24834871	110699876	65	28351											
ARID5B	84159	broad.mit.edu	37	chr10	63759861	63759861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgtctaggggaggacgagGaagaaacgaacgtgatagtt	13	9	15	4	3	1	2	0	1	1	1	1	7	1	5	0	4	2	1	0	4	5	4			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:63759861G>A	ENST00000279873.7	+	4	924	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	172					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGAGGACGAGGAAGAAACGAA	0.473													8	22					0	0	0	0	A	63759861	G	A	63759861	3	1	157	1	0	0	0	0	1	0	0	0	924	1175	41	2	528	2	ARID5B	10	63759861	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	38924990	63759861	71774886	66	28352											
ANKRD1	27063	broad.mit.edu	37	chr10	92678707	92678707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagagcagccttcagaaacGtaggcacatccacaggttcc	12	6	9	14	1	1	2	1	0	0	2	3	2	3	2	4	2	3	4	4	2	2	3	rs145387010		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:92678707G>A	ENST00000371697.3	-	4	616	c.368C>T	c.(367-369)aCg>aTg	p.T123M		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	123					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CTTCAGAAACGTAGGCACATC	0.368													8	35					0	0	0	0	A	92678707	G	A	92678707	3	1	157	1	0	0	0	0	1	0	0	0	637	1145	40	1	615	1	ANKRD1	10	92678707	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	28918846	92678707	42856040	67	28353											
MGEA5	10724	broad.mit.edu	37	chr10	103569963	103569963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaatttacgtttcaatGtggatacttccttggggtta	8	16	10	7	1	1	0	1	0	0	0	3	1	3	1	2	4	2	2	2	4	5	7			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:103569963G>A	ENST00000361464.3	-	4	853	c.458C>T	c.(457-459)aCa>aTa	p.T153I	MGEA5_ENST00000439817.1_Missense_Mutation_p.T153I|MGEA5_ENST00000357797.5_Missense_Mutation_p.T153I|MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000370094.3_Missense_Mutation_p.T153I	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	153					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ACGTTTCAATGTGGATACTTC	0.373													5	63					0	0	0	0	A	103569963	G	A	103569963	3	1	157	1	0	0	0	0	1	0	0	0	9624	1377	48	4	2344	4	MGEA5	10	103569963	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	10891256	103569963	31964784	68	28354											
TRIM8	81603	broad.mit.edu	37	chr10	104416918	104416918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcggccaccagccctaccCccgctccggccactttccct	4	7	8	22	3	0	0	0	0	0	0	2	0	2	0	8	3	2	1	8	3	1	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:104416918C>T	ENST00000302424.6	+	6	1585	c.1463C>T	c.(1462-1464)cCc>cTc	p.P488L		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	488						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAGCCCTACCCCCGCTCCGGC	0.657													10	26					0	0	0	0	T	104416918	C	T	104416918	3	4	157	1	0	0	0	0	1	0	0	0	16643	623	22	4	1485	4	TRIM8	10	104416918	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	846955	104416918	31117829	69	28355											
HRAS	3265	broad.mit.edu	37	chr11	534285	534285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcgcactcttgcccacaCcgccggcgcccaccaccacc	7	4	7	23	4	2	0	1	0	1	0	2	0	2	0	7	1	2	1	7	1	0	1	rs104894226		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:534285C>A	ENST00000417302.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			10	14					4.68919e-08	4.99281e-08	1	0	A	534285	C	A	534285	3	1	157	1	0	0	0	0	1	0	0	0	7398	507	18	4	614	4	HRAS	11	534285	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08		534285	134472231	70	28356											
MUC2	4583	broad.mit.edu	37	chr11	1093601	1093601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcaaccccaacacccaccgGcacacagaccccaaccatga	14	1	5	21	2	0	2	0	1	0	1	0	2	0	2	7	1	3	2	7	1	3	0			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:1093601G>A	ENST00000441003.2	+	30	5447	c.5420G>A	c.(5419-5421)gGc>gAc	p.G1807D	MUC2_ENST00000359061.5_Missense_Mutation_p.1763_1763insD|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.G95D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1803						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACACCCACCGGCACACAGACC	0.607													3	23					0	0	0	0	A	1093601	G	A	1093601	3	1	157	1	0	0	0	0	1	0	0	0	10045	1203	42	4	5538	4	MUC2	11	1093601	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	559316	1093601	133912915	71	28357											
OR51I1	390063	broad.mit.edu	37	chr11	5462199	5462199	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actttcatgagatctggatgGagacagtaggagtgatgcaa	13	10	13	5	0	2	3	1	2	1	2	2	7	2	5	0	3	1	2	0	3	2	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:5462199G>C	ENST00000380211.1	-	1	545	c.546C>G	c.(544-546)ctC>ctG	p.L182L	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCTGGATGGAGACAGTAGG	0.433													14	22					0	0	0	0	C	5462199	G	C	5462199	2	2	157	1	0	0	0	0	0	0	0	1	11171	1161	41	2		2	OR51I1	11	5462199	Silent	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	4368598	5462199	129544317	72	28358											
OR6A2	8590	broad.mit.edu	37	chr11	6816910	6816910	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagcaacacaaactcactCactctcccactatggttccg	11	8	4	18	1	3	0	2	0	1	0	5	0	4	0	3	1	3	2	3	1	3	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:6816910C>G	ENST00000332601.3	-	1	218	c.30G>C	c.(28-30)gtG>gtC	p.V10V		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAACTCACTCACTCTCCCAC	0.512													13	41					0	0	0	0	G	6816910	C	G	6816910	2	3	157	1	0	0	0	0	0	0	0	1	11257	813	29	2		2	OR6A2	11	6816910	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	1354711	6816910	128189606	73	28359											
OR10A2	341276	broad.mit.edu	37	chr11	6891679	6891679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctacatgttcctcacacCtccttgttgtctctcttttc	4	20	3	14	0	4	0	1	0	3	0	8	0	6	0	3	0	1	2	3	0	1	7			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:6891679C>T	ENST00000307322.4	+	1	756	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTCCTCACACCTCCTTGTTGT	0.423													109	46					0	0	0	0	T	6891679	C	T	6891679	3	4	157	1	0	0	0	0	1	0	0	0	10961	681	24	4	696	4	OR10A2	11	6891679	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	74769	6891679	128114837	74	28360											
ZNF215	7762	broad.mit.edu	37	chr11	6977464	6977464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggagattcttcaaccgacGtacaaaccttactaagcatc	13	10	7	11	2	2	1	1	0	1	1	3	3	2	1	2	1	5	2	2	1	5	5	rs139686178		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:6977464G>A	ENST00000278319.5	+	7	1844	c.1256G>A	c.(1255-1257)cGt>cAt	p.R419H	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.R419H	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	419					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TTCAACCGACGTACAAACCTT	0.408													20	30					0	0	0	0	A	6977464	G	A	6977464	3	1	157	1	0	0	0	0	1	0	0	0	17866	1145	40	1	1274	1	ZNF215	11	6977464	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	85785	6977464	128029052	75	28361											
ABCC8	6833	broad.mit.edu	37	chr11	17428294	17428294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccaggctgcagagcacCgtgaacaccatggcatagac	12	5	11	13	1	0	3	0	1	0	2	0	3	0	3	3	2	4	4	3	2	2	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:17428294C>T	ENST00000302539.4	-	26	3332	c.3207G>A	c.(3205-3207)acG>acA	p.T1069T	ABCC8_ENST00000389817.3_Silent_p.T1068T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1068	ABC transmembrane type-1 2.			VL -> AV (in Ref. 1; AAB02278/AAB02417/ AAB02418).	carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGCAGAGCACCGTGAACACCA	0.602													28	18					0	0	0	0	T	17428294	C	T	17428294	2	4	157	1	0	0	0	0	0	0	0	1	58	639	23	1		1	ABCC8	11	17428294	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	10450830	17428294	117578222	76	28362											
CHST1	8534	broad.mit.edu	37	chr11	45671567	45671567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggttccgagccaggtcctCgtagcgcaccaacatgtact	9	8	11	13	3	0	0	0	0	0	0	3	1	2	0	4	2	4	4	4	2	3	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:45671567C>T	ENST00000308064.2	-	4	1577	c.907G>A	c.(907-909)Gag>Aag	p.E303K		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	303					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCAGGTCCTCGTAGCGCACC	0.627													35	23					0	0	0	0	T	45671567	C	T	45671567	3	4	157	1	0	0	0	0	1	0	0	0	3426	893	31	1	332	1	CHST1	11	45671567	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	28243273	45671567	89334949	77	28363											
OR5T1	390155	broad.mit.edu	37	chr11	56043262	56043262	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagcaatctatctattcActctaataggcaatttaggg	12	16	6	7	0	4	0	1	0	3	0	4	0	4	0	0	2	1	2	0	2	8	9			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:56043262A>G	ENST00000313033.2	+	1	234	c.148A>G	c.(148-150)Act>Gct	p.T50A		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T50P(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTATCTATTCACTCTAATAGG	0.338													19	49					0	0	0	0	G	56043262	A	G	56043262	3	3	157	1	0	0	0	0	1	0	0	0	11252	159	6	5	150	5	OR5T1	11	56043262	Missense_Mutation	SNP	A	TCGA-CQ-7068-01A-11D-2078-08	10371695	56043262	78963254	78	28364											
PC	5091	broad.mit.edu	37	chr11	66618354	66618354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccggagggagctgaccAgcatggtgcaggccgtgggc	6	5	19	11	2	0	1	0	1	0	0	1	3	1	3	3	6	3	3	3	6	0	0			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:66618354A>G	ENST00000393960.1	-	18	2545	c.2264T>C	c.(2263-2265)cTg>cCg	p.L755P	PC_ENST00000393955.2_Missense_Mutation_p.L755P|PC_ENST00000393958.2_Missense_Mutation_p.L755P	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	755	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGAGCTGACCAGCATGGTGCA	0.662													7	13					0	0	0	0	G	66618354	A	G	66618354	3	3	157	1	0	0	0	0	1	0	0	0	11568	188	7	5	1296	5	PC	11	66618354	Missense_Mutation	SNP	A	TCGA-CQ-7068-01A-11D-2078-08	10575092	66618354	68388162	79	28365											
ZBTB16	7704	broad.mit.edu	37	chr11	113934865	113934865	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaggcaaagaggggcctggGaccccgactcgaagcagcgt	11	3	16	11	3	0	2	0	0	0	2	1	5	0	3	3	4	2	2	3	4	2	0			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:113934865G>T	ENST00000335953.4	+	2	1223	c.843G>T	c.(841-843)ggG>ggT	p.G281G	ZBTB16_ENST00000392996.2_Silent_p.G281G	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	281					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGGGGCCTGGGACCCCGACTC	0.647													7	21					0.000274275	0.00027995	1	0	T	113934865	G	T	113934865	2	4	157	1	0	0	0	0	0	0	0	1	17621	1161	41	2		2	ZBTB16	11	113934865	Silent	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	47316511	113934865	21071651	80	28366											
KRT78	196374	broad.mit.edu	37	chr12	53238435	53238435	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtgatgatgctgctgaagtCcaggtagcggttgttgtcca	8	12	14	7	1	0	3	0	3	0	0	2	3	2	3	2	2	3	5	2	2	2	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr12:53238435C>G	ENST00000359499.4	-	5	510	c.499G>C	c.(499-501)Gac>Cac	p.D167H	KRT78_ENST00000304620.4_Missense_Mutation_p.D277H			Q8N1N4	K2C78_HUMAN	keratin 78	277	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTGCTGAAGTCCAGGTAGCGG	0.627													23	39					0	0	0	0	G	53238435	C	G	53238435	3	3	157	1	0	0	0	0	1	0	0	0	8543	855	30	2	753	2	KRT78	12	53238435	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08		53238435	80613460	81	28367											
FBXO21	23014	broad.mit.edu	37	chr12	117595803	117595803	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctagagtgtgctgcacCaggtagcccaccgccccgtg	6	8	12	15	2	1	1	0	0	1	1	1	1	1	1	5	1	4	4	5	1	2	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr12:117595803C>A	ENST00000427718.2	-	10	1466	c.1392G>T	c.(1390-1392)ctG>ctT	p.L464L	FBXO21_ENST00000330622.5_Silent_p.L471L	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	471					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TGTGCTGCACCAGGTAGCCCA	0.532													61	166					1.08141e-31	1.19439e-31	1	0	A	117595803	C	A	117595803	2	1	157	1	0	0	0	0	0	0	0	1	5778	581	21	4		4	FBXO21	12	117595803	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	64357368	117595803	16256092	82	28368											
ATP12A	479	broad.mit.edu	37	chr13	25266965	25266965	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaggacttgggcctccttAtccaagataataacattgtg	11	13	8	9	0	1	1	0	0	1	1	3	2	3	2	3	2	1	0	3	2	5	6			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:25266965A>G	ENST00000218548.6	+	10	1659	c.1326A>G	c.(1324-1326)ttA>ttG	p.L442L	ATP12A_ENST00000381946.3_Silent_p.L436L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	436					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGGCCTCCTTATCCAAGATAA	0.483													57	147					0	0	0	0	G	25266965	A	G	25266965	2	3	157	1	0	0	0	0	0	0	0	1	1126	446	16	5		5	ATP12A	13	25266965	Silent	SNP	A	TCGA-CQ-7068-01A-11D-2078-08		25266965	89902913	83	28369											
MTUS2	23281	broad.mit.edu	37	chr13	29855999	29855999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaatccacttccacacccGctggtaagactttgtgcctt	10	11	6	14	1	0	1	0	0	0	1	2	1	2	1	4	1	1	2	4	1	3	4			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:29855999G>A	ENST00000431530.3	+	4	2891	c.2833G>A	c.(2833-2835)Gct>Act	p.A945T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	935	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTCCACACCCGCTGGTAAGAC	0.542													16	43					0	0	0	0	A	29855999	G	A	29855999	3	1	157	1	0	0	0	0	1	0	0	0	10036	1087	38	1	2847	1	MTUS2	13	29855999	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	4589034	29855999	85313879	84	28370											
SLITRK1	114798	broad.mit.edu	37	chr13	84453669	84453669	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggaattaatctcggaCgcggaggagttggcatctcg	9	10	15	7	4	2	0	0	0	2	0	4	4	2	4	0	5	0	3	0	5	3	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:84453669C>T	ENST00000377084.2	-	1	2859	c.1974G>A	c.(1972-1974)gcG>gcA	p.A658A		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	658						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TAATCTCGGACGCGGAGGAGT	0.552													9	20					0	0	0	0	T	84453669	C	T	84453669	2	4	157	1	0	0	0	0	0	0	0	1	14830	523	19	1		1	SLITRK1	13	84453669	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	54597670	84453669	30716209	85	28371											
SLITRK5	26050	broad.mit.edu	37	chr13	88329806	88329806	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtgtacggcggcggcggCggcacgggcggccacccaca	6	2	18	15	8	0	0	0	0	0	0	0	0	0	0	2	7	2	2	2	7	1	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:88329806C>T	ENST00000325089.6	+	2	2382	c.2163C>T	c.(2161-2163)ggC>ggT	p.G721G	SLITRK5_ENST00000400028.3_Silent_p.G480G	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	721						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCGGCGGCGGCGGCACGGGCG	0.652													16	33					0	0	0	0	T	88329806	C	T	88329806	2	4	157	1	0	0	0	0	0	0	0	1	14834	755	27	1		1	SLITRK5	13	88329806	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	3876137	88329806	26840072	86	28372											
NAA30	122830	broad.mit.edu	37	chr14	57857726	57857726	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcccaccaccagcaccTccggccccggcggcggtcga	5	4	10	22	5	0	0	0	0	0	0	4	1	3	0	8	4	1	1	8	4	0	0			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr14:57857726T>G	ENST00000556492.1	+	2	205	c.51T>G	c.(49-51)ccT>ccG	p.P17P	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	17	Pro-rich.					cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						CACCAGCACCTCCGGCCCCGG	0.721													4	10					0	0	0	0	G	57857726	T	G	57857726	2	3	157	1	0	0	0	0	0	0	0	1	10192	1538	54	5		5	NAA30	14	57857726	Silent	SNP	T	TCGA-CQ-7068-01A-11D-2078-08		57857726	49491814	87	28373											
CPSF2	53981	broad.mit.edu	37	chr14	92628079	92628079	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttatatgaacaatatgcCattgtataaaggacatgatg	15	14	7	5	0	0	2	0	2	0	0	0	3	0	3	1	1	2	1	1	1	8	7			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr14:92628079C>T	ENST00000298875.4	+	16	2625	c.2340C>T	c.(2338-2340)gcC>gcT	p.A780A		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	780					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AACAATATGCCATTGTATAAA	0.338													4	18					0	0	0	0	T	92628079	C	T	92628079	2	4	157	1	0	0	0	0	0	0	0	1	3855	581	21	4		4	CPSF2	14	92628079	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	34770353	92628079	14721461	88	28374											
ATP8B4	79895	broad.mit.edu	37	chr15	50190329	50190329	+	Frame_Shift_Del	DEL	C	C	-																															gtaacagcatttctgtacttCttcaccagctctaccacttg																										TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:50190329delC	ENST00000284509.6	-	22	2550	c.2409delG	c.(2407-2409)aafs	p.K804fs	ATP8B4_ENST00000559829.1_Frame_Shift_Del_p.K804fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	804					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.K803K(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCTGTACTTCTTCACCAGCT	0.433													31	50	---	---	---	---					-	50190329	C	-	50190329	7	5	157	1	0	1	0	1	0	0	0	0	1201	912	32	0	1197	0	ATP8B4	15	50190329	Frame_Shift_Del	DEL	C	TCGA-CQ-7068-01A-11D-2078-08		50190329	52341063	89	28375											
CGNL1	84952	broad.mit.edu	37	chr15	57731561	57731561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagcagcgcacggggcttCatgtgcccactccaggcctc	6	6	14	15	2	1	0	1	0	0	0	3	1	2	1	3	4	3	3	3	4	0	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:57731561C>T	ENST00000281282.5	+	2	1442	c.1364C>T	c.(1363-1365)tCa>tTa	p.S455L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	455	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CACGGGGCTTCATGTGCCCAC	0.622													13	23					0	0	0	0	T	57731561	C	T	57731561	3	4	157	1	0	0	0	0	1	0	0	0	3333	838	29	2	1366	2	CGNL1	15	57731561	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	7541232	57731561	44799831	90	28376											
KIAA0101	9768	broad.mit.edu	37	chr15	64669065	64669065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccacttgggagttgggCgcacgcaaacggggttccct	6	10	14	11	3	0	0	0	0	0	0	1	1	1	1	2	4	2	4	2	4	1	4			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:64669065C>T	ENST00000300035.4	-	3	305	c.167G>A	c.(166-168)cGc>cAc	p.R56H	KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000558008.1_Missense_Mutation_p.R56H|KIAA0101_ENST00000559519.1_Missense_Mutation_p.R29H|KIAA0101_ENST00000560234.1_Missense_Mutation_p.A57T	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN	KIAA0101	56						mitochondrion|nucleus		p.R56P(1)		central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GGGAGTTGGGCGCACGCAAAC	0.393													13	28					0	0	0	0	T	64669065	C	T	64669065	3	4	157	1	0	0	0	0	1	0	0	0	8206	768	27	1	201	1	KIAA0101	15	64669065	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	6937504	64669065	37862327	91	28377											
KIAA1199	57214	broad.mit.edu	37	chr15	81181917	81181917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaaaaatatgcaatcGtcccattgatatacaggtac	15	9	7	10	1	0	1	0	1	0	0	2	2	1	2	2	2	3	2	2	2	7	5			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:81181917G>A	ENST00000394685.3	+	10	1489	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	KIAA1199_ENST00000356249.5_Missense_Mutation_p.R357H|KIAA1199_ENST00000220244.3_Missense_Mutation_p.R357H			Q8WUJ3	K1199_HUMAN	KIAA1199	357										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATATGCAATCGTCCCATTGAT	0.393													13	41					0	0	0	0	A	81181917	G	A	81181917	3	1	157	1	0	0	0	0	1	0	0	0	8264	1145	40	1	1100	1	KIAA1199	15	81181917	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	16512852	81181917	21349475	92	28378											
IFT140	9742	broad.mit.edu	37	chr16	1657244	1657244	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatccggggcttctatCtggtggtcataatagagggc	7	11	14	9	1	3	1	1	0	2	1	4	1	4	1	1	5	1	3	1	5	3	4			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:1657244C>A	ENST00000426508.2	-	3	387	c.24G>T	c.(22-24)caG>caT	p.Q8H	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	8										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGGCTTCTATCTGGTGGTCAT	0.488													19	72					1.15919e-05	1.20817e-05	1	0	A	1657244	C	A	1657244	3	1	157	1	0	0	0	0	1	0	0	0	7609	912	32	2	4480	2	IFT140	16	1657244	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08		1657244	88697509	93	28379											
NUBP2	10101	broad.mit.edu	37	chr16	1836869	1836869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacccgtcttcctggacCgggagcagagcatctcgctc	6	7	13	15	3	2	1	0	0	2	1	5	3	3	3	3	3	2	4	3	3	0	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:1836869C>T	ENST00000262302.9	+	3	367	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	NUBP2_ENST00000568706.1_Intron|NUBP2_ENST00000565987.1_Missense_Mutation_p.R23W|NUBP2_ENST00000565134.1_Missense_Mutation_p.R83W|NUBP2_ENST00000543305.1_Intron	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	83						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CTTCCTGGACCGGGAGCAGAG	0.677													8	29					0	0	0	0	T	1836869	C	T	1836869	3	4	157	1	0	0	0	0	1	0	0	0	10787	643	23	1	257	1	NUBP2	16	1836869	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	179625	1836869	88517884	94	28380											
GPT2	84706	broad.mit.edu	37	chr16	46934667	46934667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgctaagaaacgtgcccGgcggatcctgcaggcttgtg	9	8	14	10	3	0	2	0	0	0	2	1	3	1	3	2	3	4	3	2	3	2	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:46934667G>T	ENST00000440783.2	+	4	772	c.107G>T	c.(106-108)cGg>cTg	p.R36L	GPT2_ENST00000340124.4_Missense_Mutation_p.R136L	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	136					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AAACGTGCCCGGCGGATCCTG	0.617													11	25					2.80697e-09	3.01038e-09	1	0	T	46934667	G	T	46934667	3	4	157	1	0	0	0	0	1	0	0	0	6788	1116	39	3	417	3	GPT2	16	46934667	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	45097798	46934667	43420086	95	28381											
SALL1	6299	broad.mit.edu	37	chr16	51175913	51175913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggctggattttcatttaCgattaaaactaattgatttt	12	17	8	4	1	1	1	1	1	0	0	1	4	1	3	0	3	2	1	0	3	4	9			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:51175913C>T	ENST00000251020.4	-	2	253	c.220G>A	c.(220-222)Gta>Ata	p.V74I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	74					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTTCATTTACGATTAAAACT	0.448													27	57					0	0	0	0	T	51175913	C	T	51175913	3	4	157	1	0	0	0	0	1	0	0	0	13895	536	19	1	3762	1	SALL1	16	51175913	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	4241246	51175913	39178840	96	28382											
ZNF319	57567	broad.mit.edu	37	chr16	58031659	58031659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggctggctccgctgcctCagctggcttgtaggtctttt	2	14	14	11	1	2	0	1	0	1	0	3	0	3	0	2	5	2	6	2	5	1	4			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:58031659C>T	ENST00000299237.2	-	2	1133	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TCCGCTGCCTCAGCTGGCTTG	0.622													46	88					0	0	0	0	T	58031659	C	T	58031659	3	4	157	1	0	0	0	0	1	0	0	0	17932	835	29	2	1241	2	ZNF319	16	58031659	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	6855746	58031659	32323094	97	28383											
CDH11	1009	broad.mit.edu	37	chr16	65006889	65006889	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagttttaataaaaccatcCtctggattaatagtgaaaaa	17	13	6	5	0	1	1	0	1	1	0	2	2	2	2	2	1	1	2	2	1	8	6			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:65006889C>T	ENST00000394156.3	-	9	1761	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	CDH11_ENST00000566827.1_Silent_p.E310E|CDH11_ENST00000268603.4_Silent_p.E436E			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	436	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TAAAACCATCCTCTGGATTAA	0.413			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			10	44					0	0	0	0	T	65006889	C	T	65006889	2	4	157	1	0	0	0	0	0	0	0	1	3126	680	24	4		4	CDH11	16	65006889	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	6975230	65006889	25347864	98	28384											
OR1D2	4991	broad.mit.edu	37	chr17	2995717	2995717	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgtgattaatctgaaTgttggaacatgccatcctca	11	13	8	9	0	2	2	1	2	1	0	3	3	3	3	2	1	2	1	2	1	3	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:2995717T>C	ENST00000331459.1	-	1	573	c.574A>G	c.(574-576)Att>Gtt	p.I192V		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	192					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TTAATCTGAATGTTGGAACAT	0.448													14	39					0	0	0	0	C	2995717	T	C	2995717	3	2	157	1	0	0	0	0	1	0	0	0	11024	1464	51	5	367	5	OR1D2	17	2995717	Missense_Mutation	SNP	T	TCGA-CQ-7068-01A-11D-2078-08		2995717	78199493	99	28385											
SPNS3	201305	broad.mit.edu	37	chr17	4351571	4351571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcaggagcagctggtGtgaggacgtcagatacctgg	9	8	16	8	1	2	2	2	1	0	1	2	4	2	4	1	5	3	3	1	5	1	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:4351571G>A	ENST00000355530.2	+	6	1023	c.743G>A	c.(742-744)tGt>tAt	p.C248Y	SPNS3_ENST00000333476.2_Missense_Mutation_p.C121Y|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	248					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						AGCAGCTGGTGTGAGGACGTC	0.612													13	13					0	0	0	0	A	4351571	G	A	4351571	3	1	157	1	0	0	0	0	1	0	0	0	15166	1377	48	4	765	4	SPNS3	17	4351571	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	1355854	4351571	76843639	100	28386											
MRPL45	84311	broad.mit.edu	37	chr17	36453192	36453192	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttctcttgtttatcgaggTttttgggctggtggtttcgg	2	19	15	5	2	1	0	0	0	1	0	4	1	1	0	0	6	0	5	0	6	1	7	rs139299251	by1000genomes	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:36453192T>G	ENST00000312513.5	+	1	204	c.43T>G	c.(43-45)Ttt>Gtt	p.F15V		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	15					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTATCGAGGTTTTTGGGCTG	0.582													5	50					0	0	0	0	G	36453192	T	G	36453192	3	3	157	1	0	0	0	0	1	0	0	0	9879	1725	60	5		5	MRPL45	17	36453192	Missense_Mutation	SNP	T	TCGA-CQ-7068-01A-11D-2078-08	32101621	36453192	44742018	101	28387											
KRT14	3861	broad.mit.edu	37	chr17	39739633	39739633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcctccacgctgccaatCatctcctggatctgggccag	6	10	9	16	1	3	0	1	0	2	0	6	1	5	1	5	2	2	2	5	2	1	0			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:39739633C>T	ENST00000167586.6	-	6	1214	c.1128G>A	c.(1126-1128)atG>atA	p.M376I		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	376	Coil 2.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CGCTGCCAATCATCTCCTGGA	0.597													12	27					0	0	0	0	T	39739633	C	T	39739633	3	4	157	1	0	0	0	0	1	0	0	0	8503	826	29	2	302	2	KRT14	17	39739633	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	3286441	39739633	41455577	102	28388											
BAIAP2	10458	broad.mit.edu	37	chr17	79073793	79073793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccgacggctacaagacCgcactgacagaggagcgcag	11	4	14	12	4	0	3	0	1	0	2	1	5	1	4	2	2	2	3	2	2	2	1	rs146015006	byFrequency	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:79073793C>T	ENST00000321300.6	+	7	648	c.555C>T	c.(553-555)acC>acT	p.T185T	BAIAP2_ENST00000575245.1_Silent_p.T218T|BAIAP2_ENST00000428708.2_Silent_p.T185T|BAIAP2_ENST00000392411.3_Silent_p.T107T|BAIAP2_ENST00000575712.1_Silent_p.T185T|BAIAP2_ENST00000416299.2_Silent_p.T48T|BAIAP2_ENST00000435091.3_Silent_p.T185T|BAIAP2_ENST00000321280.7_Silent_p.T185T	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	185	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCTACAAGACCGCACTGACAG	0.617													3	39					0	0	0	0	T	79073793	C	T	79073793	2	4	157	1	0	0	0	0	0	0	0	1	1305	639	23	1		1	BAIAP2	17	79073793	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	39334160	79073793	2121417	103	28389											
ZNF532	55205	broad.mit.edu	37	chr18	56620896	56620896	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaaagagaaattggaaaaGaaatctccatctcctgtgaa	17	8	10	6	0	2	3	0	1	2	2	4	6	2	5	2	2	0	0	2	2	6	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr18:56620896G>A	ENST00000336078.4	+	8	3791	c.3015G>A	c.(3013-3015)aaG>aaA	p.K1005K	ZNF532_ENST00000591230.1_Silent_p.K1005K|ZNF532_ENST00000591083.1_Silent_p.K1005K|ZNF532_ENST00000591808.1_Silent_p.K1005K|ZNF532_ENST00000589288.1_Silent_p.K1005K	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1005					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATTGGAAAAGAAATCTCCAT	0.428													24	49					0	0	0	0	A	56620896	G	A	56620896	2	1	157	1	0	0	0	0	0	0	0	1	18067	933	33	2		2	ZNF532	18	56620896	Silent	SNP	G	TCGA-CQ-7068-01A-11D-2078-08		56620896	21456352	104	28390											
ODF3L2	284451	broad.mit.edu	37	chr19	463990	463990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgctctgggcagtgggCgccagggccgggggtctcct	3	7	18	13	2	2	0	0	0	2	0	3	1	2	0	4	5	1	2	4	5	0	0			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:463990C>T	ENST00000315489.4	-	4	959	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	ODF3L2_ENST00000382696.3_Missense_Mutation_p.A206T	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	242	Pro-rich.									large_intestine(1)|lung(2)	3						GGGCAGTGGGCGCCAGGGCCG	0.711													4	13					0	0	0	0	T	463990	C	T	463990	3	4	157	1	0	0	0	0	1	0	0	0	10903	768	27	1	149	1	ODF3L2	19	463990	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08		463990	58664993	105	28391											
OR1M1	125963	broad.mit.edu	37	chr19	9204511	9204511	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacacctctgtgaataggatCttcatcctcattgtggcagg	9	12	10	10	0	4	1	2	1	2	0	5	3	5	2	2	3	0	1	2	3	2	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:9204511C>T	ENST00000429566.3	+	1	657	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGAATAGGATCTTCATCCTCA	0.567													19	57					0	0	0	0	T	9204511	C	T	9204511	2	4	157	1	0	0	0	0	0	0	0	1	11039	903	32	2		2	OR1M1	19	9204511	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	8740521	9204511	49924472	106	28392											
ILVBL	10994	broad.mit.edu	37	chr19	15230101	15230101	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcagggaacacccaaggtCtccacggcagccctgggagt	11	4	13	13	1	1	0	0	0	1	0	2	2	1	2	3	4	3	2	3	4	3	0			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:15230101C>G	ENST00000263383.3	-	9	1066	c.927G>C	c.(925-927)gaG>gaC	p.E309D	ILVBL_ENST00000534378.1_Missense_Mutation_p.E202D|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	309						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCCAAGGTCTCCACGGCAG	0.672													10	36					0	0	0	0	G	15230101	C	G	15230101	3	3	157	1	0	0	0	0	1	0	0	0	7768	912	32	2	1003	2	ILVBL	19	15230101	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	6025590	15230101	43898882	107	28393											
ZNF43	7594	broad.mit.edu	37	chr19	21992490	21992491	+	Frame_Shift_Ins	INS	-	-	T																															tcatccacacttttatggtcINStttttttaaatgtacatttt																										TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:21992490_21992491insT	ENST00000594012.1	-	7	844_845	c.330_331insA	c.(328-333)aaaccafs	p.P111fs	ZNF43_ENST00000354959.4_Frame_Shift_Ins_p.P117fs|ZNF43_ENST00000598381.1_Frame_Shift_Ins_p.P111fs|ZNF43_ENST00000595461.1_Frame_Shift_Ins_p.P111fs	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTTTTATGGTCTTTTTTTAAAT	0.351													18	55	---	---	---	---					T	21992491	-	T	21992490	7	5	157	1	0	1	1	0	0	0	0	0	17998	913	32	0	2084	0	ZNF43	19	21992490	Frame_Shift_Ins	INS	-	TCGA-CQ-7068-01A-11D-2078-08	6762389	21992490	37136493	108	28394											
ZNF382	84911	broad.mit.edu	37	chr19	37118156	37118156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaaaagacaaccctcactCtccaccagagaattcacacg	15	5	5	16	1	3	2	2	0	1	2	4	3	3	2	4	0	1	0	4	0	4	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:37118156C>T	ENST00000435416.1	+	3	2849	c.1354C>T	c.(1354-1356)Ctc>Ttc	p.L452F	ZNF382_ENST00000292928.2_Missense_Mutation_p.L453F|ZNF382_ENST00000439428.1_Missense_Mutation_p.L452F|ZNF382_ENST00000423582.1_Missense_Mutation_p.L404F			Q96SR6	ZN382_HUMAN	zinc finger protein 382	453	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACCCTCACTCTCCACCAGAG	0.453													9	35					0	0	0	0	T	37118156	C	T	37118156	3	4	157	1	0	0	0	0	1	0	0	0	17968	913	32	2	1367	2	ZNF382	19	37118156	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	15125666	37118156	22010827	109	28395											
AXL	558	broad.mit.edu	37	chr19	41726662	41726662	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagccccccgaggtacattgGcttcgggatggacagatcct	8	8	13	12	2	0	1	0	0	0	1	2	5	1	3	4	4	2	2	4	4	1	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:41726662G>A	ENST00000301178.4	+	2	397	c.207G>A	c.(205-207)tgG>tgA	p.W69*	AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Nonsense_Mutation_p.W69*	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	69	Ig-like C2-type 1.|Interaction with GAS6.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGGTACATTGGCTTCGGGATG	0.627													12	28					0	0	0	0	A	41726662	G	A	41726662	4	1	157	1	0	0	0	0	0	1	0	0	1242	1212	42	4	213	4	AXL	19	41726662	Nonsense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	4608506	41726662	17402321	110	28396											
DMRTC2	63946	broad.mit.edu	37	chr19	42351824	42351824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgccgcagggtcatggCtgcccaggtggccttgcgta	5	7	17	12	3	1	0	1	0	0	0	1	1	1	1	3	5	3	3	3	5	1	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:42351824C>T	ENST00000269945.3	+	3	296	c.245C>T	c.(244-246)gCt>gTt	p.A82V	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.A82V	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	82					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						AGGGTCATGGCTGCCCAGGTG	0.592													5	4					0	0	0	0	T	42351824	C	T	42351824	3	4	157	1	0	0	0	0	1	0	0	0	4628	797	28	4	251	4	DMRTC2	19	42351824	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	625162	42351824	16777159	111	28397											
ZC3H4	23211	broad.mit.edu	37	chr19	47575163	47575163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagtctccagggccgtagGgcatcattggagggccgcca	7	6	17	11	2	2	0	1	0	1	0	3	2	2	2	4	5	0	2	4	5	1	2	rs149041592		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:47575163G>T	ENST00000253048.5	-	13	2055	c.2018C>A	c.(2017-2019)cCc>cAc	p.P673H	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	673	Pro-rich.						nucleic acid binding|zinc ion binding	p.P673L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGGCCGTAGGGCATCATTGG	0.607													6	16					0.00116845	0.00117639	1	0	T	47575163	G	T	47575163	3	4	157	1	0	0	0	0	1	0	0	0	17665	1232	43	4	1905	4	ZC3H4	19	47575163	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	5223339	47575163	11553820	112	28398											
SPHK2	56848	broad.mit.edu	37	chr19	49132292	49132292	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaccccagacccagccccGcccatggcccactcacccct	8	4	5	24	1	1	1	1	0	0	1	1	1	1	1	9	1	2	0	9	1	1	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:49132292G>A	ENST00000443164.1	+	5	2118	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P	SPHK2_ENST00000600537.1_Silent_p.P350P|SPHK2_ENST00000599029.1_Silent_p.P373P|SPHK2_ENST00000340932.3_Silent_p.P371P|SPHK2_ENST00000599748.1_Silent_p.P373P|SPHK2_ENST00000245222.4_Silent_p.P409P|SPHK2_ENST00000598088.1_Silent_p.P409P			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	409					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		Acccagccccgcccatggccc	0.682													8	22					0	0	0	0	A	49132292	G	A	49132292	2	1	157	1	0	0	0	0	0	0	0	1	15137	1074	38	1		1	SPHK2	19	49132292	Silent	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	1557129	49132292	9996691	113	28399											
TULP2	7288	broad.mit.edu	37	chr19	49399725	49399725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcctcccgcagacaagagCgccaaagccacggggaagcg	11	2	13	15	4	0	2	0	0	0	2	2	3	2	3	4	2	3	2	4	2	3	0			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:49399725C>T	ENST00000221399.3	-	4	317	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	58					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CAGACAAGAGCGCCAAAGCCA	0.637													17	29					0	0	0	0	T	49399725	C	T	49399725	3	4	157	1	0	0	0	0	1	0	0	0	16870	768	27	1	1429	1	TULP2	19	49399725	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	267433	49399725	9729258	114	28400											
BCAS1	8537	broad.mit.edu	37	chr20	52644969	52644969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggactgccctgataagcCaggaacctcatccaccttgt	10	9	8	14	1	1	1	1	1	0	0	3	3	2	3	5	2	3	0	5	2	2	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr20:52644969C>T	ENST00000395961.3	-	4	851	c.685G>A	c.(685-687)Ggc>Agc	p.G229S	BCAS1_ENST00000411563.1_Missense_Mutation_p.G132S|BCAS1_ENST00000371435.2_Missense_Mutation_p.G229S|BCAS1_ENST00000371440.3_Missense_Mutation_p.G229S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	229						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCTGATAAGCCAGGAACCTCA	0.532													52	144					0	0	0	0	T	52644969	C	T	52644969	3	4	157	1	0	0	0	0	1	0	0	0	1354	594	21	4	1105	4	BCAS1	20	52644969	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08		52644969	10380551	115	28401											
RGL4	266747	broad.mit.edu	37	chr22	24035110	24035110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtaaagaaccaacccagtGaggagctgcctgacatgacg	13	6	11	11	1	0	4	0	3	0	1	0	5	0	5	3	1	4	2	3	1	4	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr22:24035110G>A	ENST00000290691.5	+	3	1798	c.628G>A	c.(628-630)Gag>Aag	p.E210K	GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.E74K	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	210	Pro-rich.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CCAACCCAGTGAGGAGCTGCC	0.622													8	31					0	0	0	0	A	24035110	G	A	24035110	3	1	157	1	0	0	0	0	1	0	0	0	13361	1291	45	2	638	2	RGL4	22	24035110	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08		24035110	27269456	116	28402											
RBX1	9978	broad.mit.edu	37	chr22	41360103	41360103	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttcagaagagtgtactgtCgcatggggagtctgtaacgt	10	11	13	7	2	2	2	1	0	1	2	3	3	2	3	0	2	2	3	0	2	3	3	rs142549819		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr22:41360103C>T	ENST00000216225.8	+	3	250	c.210C>T	c.(208-210)gtC>gtT	p.V70V	XPNPEP3_ENST00000544094.1_3'UTR	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	70					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						AGTGTACTGTCGCATGGGGAG	0.468													11	27					0	0	0	0	T	41360103	C	T	41360103	2	4	157	1	0	0	0	0	0	0	0	1	13247	871	31	1		1	RBX1	22	41360103	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	17324993	41360103	9944463	117	28403											
FAM47C	442444	broad.mit.edu	37	chrX	37026576	37026576	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgccttccaagtacttcgcGaagcgcaagcacaggcgcct	9	6	10	16	5	0	0	0	0	0	0	2	1	1	0	4	1	3	3	4	1	4	3			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:37026576G>A	ENST00000358047.3	+	1	145	c.93G>A	c.(91-93)gcG>gcA	p.A31A		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	31										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTACTTCGCGAAGCGCAAGC	0.642													12	10					0	0	0	0	A	37026576	G	A	37026576	2	1	157	1	0	0	0	0	0	0	0	1	5618	1045	37	1		1	FAM47C	23	37026576	Silent	SNP	G	TCGA-CQ-7068-01A-11D-2078-08		37026576	118243984	118	28404											
DGKK	139189	broad.mit.edu	37	chrX	50113399	50113399	+	RNA	DEL	C	C	-																															gttgggggaagtcttcatgaCccctctgcctgtgggggaga																										TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:50113399delC	ENST00000376025.2	-	0	3795							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTCTTCATGACCCCTCTGCCT	0.517													2	4	---	---	---	---					-	50113399	C	-	50113399	6	5	157	0	1	1	0	1	0	0	0	0	4509	522	18	0		0	DGKK	23	50113399	RNA	DEL	C	TCGA-CQ-7068-01A-11D-2078-08	13086823	50113399	105157161	119	28405											
SPANXN5	494197	broad.mit.edu	37	chrX	52825613	52825613	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactgttgaatattctgatGttttcatctttttcaaactc	10	20	4	7	0	4	2	2	2	2	0	5	2	4	2	0	0	2	2	0	0	4	8			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:52825613G>C	ENST00000375511.3	-	2	886	c.134C>G	c.(133-135)aCa>aGa	p.T45R		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	45										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					ATATTCTGATGTTTTCATCTT	0.393													3	47					0	0	0	0	C	52825613	G	C	52825613	3	2	157	1	0	0	0	0	1	0	0	0	15084	1377	48	4	88	4	SPANXN5	23	52825613	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	2712214	52825613	102444947	120	28406											
HUWE1	10075	broad.mit.edu	37	chrX	53563194	53563194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtagaagtggtaatcttCactctccatatctgtatatc	10	16	7	8	0	4	1	1	0	3	1	6	1	4	1	1	2	0	3	1	2	6	7			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:53563194C>T	ENST00000342160.3	-	79	12902	c.12445G>A	c.(12445-12447)Gaa>Aaa	p.E4149K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E4149K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4149	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGTAATCTTCACTCTCCATA	0.448													11	22					0	0	0	0	T	53563194	C	T	53563194	3	4	157	1	0	0	0	0	1	0	0	0	7514	835	29	2	699	2	HUWE1	23	53563194	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	737581	53563194	101707366	121	28407											
ZXDA	7789	broad.mit.edu	37	chrX	57935195	57935196	+	Frame_Shift_Del	DEL	AG	AG	-																															catgctgtgcttggatgtgaAgagtttattacaagaggaga																										TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:57935195_57935196delAG	ENST00000358697.4	-	1	1871_1872	c.1659_1660delCT	c.(1657-1662)cttcfs	p.LF553fs		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	553	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TTGGATGTGAAGAGTTTATTAC	0.485													10	24	---	---	---	---					-	57935196	AG	-	57935195	7	5	157	1	0	1	0	1	0	0	0	0	18341	72	3	0	743	0	ZXDA	23	57935195	Frame_Shift_Del	DEL	AG	TCGA-CQ-7068-01A-11D-2078-08	4372001	57935195	97335365	122	28408											
CHM	1121	broad.mit.edu	37	chrX	85302517	85302517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacgatcacatcaaactccGaagggagagtatccgccatc	13	8	8	12	3	2	1	2	0	0	1	5	4	4	1	3	1	2	1	3	1	4	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:85302517G>A	ENST00000357749.2	-	1	49	c.20C>T	c.(19-21)tCg>tTg	p.S7L	CHM_ENST00000537751.1_5'UTR|CHM_ENST00000358786.4_Missense_Mutation_p.S7L	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	7					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ATCAAACTCCGAAGGGAGAGT	0.468													7	4					0	0	0	0	A	85302517	G	A	85302517	3	1	157	1	0	0	0	0	1	0	0	0	3379	1059	37	1	2024	1	CHM	23	85302517	Missense_Mutation	SNP	G	TCGA-CQ-7068-01A-11D-2078-08	27367322	85302517	69968043	123	28409											
IGSF1	3547	broad.mit.edu	37	chrX	130416550	130416550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagaatgatgtgttgtcatCgatgctggtggcatccaaaa	12	11	12	6	1	1	2	1	1	0	1	3	4	2	2	1	2	1	3	1	2	4	1			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:130416550C>T	ENST00000370904.1	-	13	1997	c.1087G>A	c.(1087-1089)Gat>Aat	p.D363N	IGSF1_ENST00000370910.1_Missense_Mutation_p.D363N|IGSF1_ENST00000370903.3_Missense_Mutation_p.D372N|IGSF1_ENST00000361420.3_Missense_Mutation_p.D372N			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	372	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTGTTGTCATCGATGCTGGTG	0.468													38	28					0	0	0	0	T	130416550	C	T	130416550	3	4	157	1	0	0	0	0	1	0	0	0	7649	884	31	1	2967	1	IGSF1	23	130416550	Missense_Mutation	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	45114033	130416550	24854010	124	28410											
ATP2B3	492	broad.mit.edu	37	chrX	152813447	152813447	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaagctagccgtgcagatCgggaaagcaggtagggacag	14	4	15	8	2	0	1	0	0	0	1	1	3	0	3	1	3	4	4	1	3	4	2			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:152813447C>T	ENST00000370186.1	+	7	1397	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	ATP2B3_ENST00000393842.1_Silent_p.I357I|ATP2B3_ENST00000359149.3_Silent_p.I371I|ATP2B3_ENST00000349466.2_Silent_p.I371I|ATP2B3_ENST00000370181.2_Silent_p.I357I|ATP2B3_ENST00000263519.4_Silent_p.I371I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	371					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGTGCAGATCGGGAAAGCAG	0.597													12	22					0	0	0	0	T	152813447	C	T	152813447	2	4	157	1	0	0	0	0	0	0	0	1	1145	874	31	1		1	ATP2B3	23	152813447	Silent	SNP	C	TCGA-CQ-7068-01A-11D-2078-08	22396897	152813447	2457113	125	28411											
EPHA2	1969	broad.mit.edu	37	chr1	16475112	16475112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttcttgtagtagacaCggacggagagcagcgccaca	11	6	13	11	3	1	2	0	0	1	2	1	4	1	3	1	3	2	4	1	3	2	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:16475112C>T	ENST00000358432.5	-	3	738	c.584G>A	c.(583-585)cGt>cAt	p.R195H	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	195	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GTAGTAGACACGGACGGAGAG	0.652													11	135					0	0	0	0	T	16475112	C	T	16475112	3	4	158	1	0	0	0	0	1	0	0	0	5205	536	19	1	2406	1	EPHA2	1	16475112	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08		16475112	232775509	1	28412											
PAX7	5081	broad.mit.edu	37	chr1	19062154	19062154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcttgggcaaccccagtgCggtgcccccgcagccacagg	7	5	12	17	2	1	0	0	0	1	0	1	0	1	0	5	3	4	2	5	3	1	1			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:19062154C>T	ENST00000420770.2	+	8	1267	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V	PAX7_ENST00000375375.3_Missense_Mutation_p.A395V|PAX7_ENST00000400661.3_Missense_Mutation_p.A393V	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	395					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		AACCCCAGTGCGGTGCCCCCG	0.652			T	FOXO1A	alveolar rhabdomyosarcoma								11	107					0	0	0	0	T	19062154	C	T	19062154	3	4	158	1	0	0	0	0	1	0	0	0	11555	768	27	1	1214	1	PAX7	1	19062154	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	2587042	19062154	230188467	2	28413											
MAN1C1	57134	broad.mit.edu	37	chr1	26104778	26104778	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccgagagctcgcagcccaGatcaccaagacgtgtcacga	12	5	10	14	4	2	3	2	0	0	3	3	5	2	3	3	0	3	2	3	0	2	1			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:26104778G>A	ENST00000374332.4	+	9	1770	c.1440G>A	c.(1438-1440)caG>caA	p.Q480Q	MAN1C1_ENST00000263979.3_Silent_p.Q300Q|MAN1C1_ENST00000374329.1_Silent_p.Q251Q	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	480					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TCGCAGCCCAGATCACCAAGA	0.607													26	65					0	0	0	0	A	26104778	G	A	26104778	2	1	158	1	0	0	0	0	0	0	0	1	9282	933	33	2		2	MAN1C1	1	26104778	Silent	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	7042624	26104778	223145843	3	28414											
IL12RB2	3595	broad.mit.edu	37	chr1	67786090	67786090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgctcattggcatttatGtttataatcacgtggctgtt	8	17	10	6	1	2	0	2	0	0	0	2	1	2	1	0	3	1	5	0	3	3	7			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:67786090G>T	ENST00000262345.1	+	2	679	c.39G>T	c.(37-39)atG>atT	p.M13I	IL12RB2_ENST00000371000.1_Missense_Mutation_p.M13I|IL12RB2_ENST00000541374.1_Missense_Mutation_p.M13I|IL12RB2_ENST00000544434.1_Missense_Mutation_p.M13I	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	13			M -> V (in dbSNP:rs17129772).		positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TGGCATTTATGTTTATAATCA	0.338													10	60					0.000673444	0.000684049	1	0	T	67786090	G	T	67786090	3	4	158	1	0	0	0	0	1	0	0	0	7680	1377	48	4	41	4	IL12RB2	1	67786090	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	41681312	67786090	181464531	4	28415											
LRRC40	55631	broad.mit.edu	37	chr1	70616830	70616830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctattaaaggaaagattgaTcgtttgcagtcttaccagtg	12	13	9	7	1	1	2	0	1	1	1	2	3	1	3	2	1	2	2	2	1	5	5	rs3180401	byFrequency	TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:70616830T>C	ENST00000370952.3	-	13	1577	c.1498A>G	c.(1498-1500)Atc>Gtc	p.I500V		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	500			I -> V (in dbSNP:rs3180401).							breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GAAAGATTGATCGTTTGCAGT	0.294													2	14					0	0	0	0	C	70616830	T	C	70616830	3	2	158	1	0	0	0	0	1	0	0	0	9062	1435	50	5	322	5	LRRC40	1	70616830	Missense_Mutation	SNP	T	TCGA-CQ-7069-01A-11D-2394-08	2830740	70616830	178633791	5	28416											
FLG	2312	broad.mit.edu	37	chr1	152277137	152277137	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgggatccttgtcttcGtccagtgctggtcctggtcc	2	14	14	11	1	1	0	0	0	1	0	6	1	5	1	4	4	1	1	4	4	0	2			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:152277137G>A	ENST00000368799.1	-	3	10260	c.10225C>T	c.(10225-10227)Cga>Tga	p.R3409*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3409	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTGTCTTCGTCCAGTGCTG	0.607									Ichthyosis				132	352					0	0	0	0	A	152277137	G	A	152277137	4	1	158	1	0	0	0	0	0	1	0	0	5967	1153	40	1	1964	1	FLG	1	152277137	Nonsense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	81660307	152277137	96973484	6	28417											
DUSP23	54935	broad.mit.edu	37	chr1	159752122	159752122	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccagttctaccagcgaacGaaataaggggccttagtacc	12	9	9	11	2	1	0	0	0	1	0	2	2	2	0	4	2	4	2	4	2	6	6			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:159752122G>A	ENST00000368107.1	+	2	545	c.447G>A	c.(445-447)acG>acA	p.T149T	DUSP23_ENST00000368109.1_Silent_p.T149T|DUSP23_ENST00000368108.3_Silent_p.T149T			Q9BVJ7	DUS23_HUMAN	dual specificity phosphatase 23	149						cytosol|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			lung(1)	1	all_hematologic(112;0.0537)					ACCAGCGAACGAAATAAGGGG	0.532													17	46					0	0	0	0	A	159752122	G	A	159752122	2	1	158	1	0	0	0	0	0	0	0	1	4858	1045	37	1		1	DUSP23	1	159752122	Silent	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	7474985	159752122	89498499	7	28418											
KIF14	9928	broad.mit.edu	37	chr1	200550364	200550364	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgttttcaatttgctgctGatagcattggcttcctgaat	8	18	8	7	0	1	2	1	2	0	0	2	2	2	2	1	1	3	5	1	1	4	7			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:200550364G>C	ENST00000367350.4	-	20	3738	c.3300C>G	c.(3298-3300)atC>atG	p.I1100M		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1100	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTTGCTGCTGATAGCATTGG	0.328													17	56					0	0	0	0	C	200550364	G	C	200550364	3	2	158	1	0	0	0	0	1	0	0	0	8327	1280	45	2	1690	2	KIF14	1	200550364	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	40798242	200550364	48700257	8	28419											
USH2A	7399	broad.mit.edu	37	chr1	215848631	215848631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgaaaacaattttctcgtCggcctggattgtctgatttc	8	16	9	8	2	2	2	0	2	2	0	5	3	2	3	1	2	1	0	1	2	3	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:215848631C>T	ENST00000366943.2	-	63	13008	c.12622G>A	c.(12622-12624)Gac>Aac	p.D4208N	USH2A_ENST00000307340.3_Missense_Mutation_p.D4208N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4208	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D4208N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTTCTCGTCGGCCTGGATT	0.393										HNSCC(13;0.011)			12	67					0	0	0	0	T	215848631	C	T	215848631	3	4	158	1	0	0	0	0	1	0	0	0	17132	884	31	1	3026	1	USH2A	1	215848631	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	15298267	215848631	33401990	9	28420											
ACBD3	64746	broad.mit.edu	37	chr1	226349308	226349308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtcgaagcctttcctcttCttctctcctacgtttctctt	3	18	4	16	3	4	0	0	0	4	0	9	1	6	0	4	0	2	1	4	0	2	6			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:226349308C>T	ENST00000366812.5	-	4	706	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	218	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		ctttcctcttcttctctccta	0.473													8	42					0	0	0	0	T	226349308	C	T	226349308	3	4	158	1	0	0	0	0	1	0	0	0	123	922	32	2	954	2	ACBD3	1	226349308	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	10500677	226349308	22901313	10	28421											
CDC42BPA	8476	broad.mit.edu	37	chr1	227381593	227381593	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttcaaatttgctgagtaGagtaagcaaatccccaccaa	15	10	6	10	0	2	2	1	1	1	1	3	2	3	2	3	0	2	4	3	0	5	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:227381593G>C	ENST00000366769.3	-	5	1784	c.493C>G	c.(493-495)Cta>Gta	p.L165V	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.L165V|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.L165V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.L165V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.L165V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.L165V|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.L165V	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	165	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTGCTGAGTAGAGTAAGCAAA	0.338													20	32					0	0	0	0	C	227381593	G	C	227381593	3	2	158	1	0	0	0	0	1	0	0	0	3101	933	33	2	4794	2	CDC42BPA	1	227381593	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	1032285	227381593	21869028	11	28422											
SMC6	79677	broad.mit.edu	37	chr2	17912391	17912391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcagctcttctttcctcGtggaaaccacggagcctagt	9	11	8	13	2	3	0	1	0	2	0	5	2	4	2	3	2	3	1	3	2	3	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:17912391G>A	ENST00000448223.2	-	7	766	c.497C>T	c.(496-498)aCg>aTg	p.T166M	SMC6_ENST00000381272.4_Missense_Mutation_p.T192M|SMC6_ENST00000351948.4_Missense_Mutation_p.T166M|SMC6_ENST00000402989.1_Missense_Mutation_p.T166M	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	166					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCTTTCCTCGTGGAAACCAC	0.313													5	65					0	0	0	0	A	17912391	G	A	17912391	3	1	158	1	0	0	0	0	1	0	0	0	14875	1145	40	1	2866	1	SMC6	2	17912391	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08		17912391	225286982	12	28423											
FOSL2	2355	broad.mit.edu	37	chr2	28634938	28634951	+	Frame_Shift_Del	DEL	CCAGCCCCTGGGCT	CCAGCCCCTGGGCT	-																															ccgaggagcgccgatcgcccCcagcccctgggctgcagccc																								rs112106981		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:28634938_28634951delCCAGCCCCTGGGCT	ENST00000264716.4	+	4	1467_1480	c.604_617delCCAGCCCCTGGGCT	c.(604-618)gfs	p.PAPGL202fs	FOSL2_ENST00000545753.1_Frame_Shift_Del_p.PAPGL163fs|FOSL2_ENST00000379619.1_Frame_Shift_Del_p.PAPGL194fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	202					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L206M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCGATCGCCCCCAGCCCCTGGGCTGCAGCCCATG	0.659													36	56	---	---	---	---					-	28634951	CCAGCCCCTGGGCT	-	28634938	7	5	158	1	0	1	0	1	0	0	0	0	6033	623	22	0	618	0	FOSL2	2	28634938	Frame_Shift_Del	DEL	CCAGCCCCTGGGCT	TCGA-CQ-7069-01A-11D-2394-08	10722547	28634938	214564435	13	28424											
FHL2	2274	broad.mit.edu	37	chr2	105979872	105979872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctgcaggcggtgcacacGaagcactccttgtgccaggg	7	8	13	13	2	0	0	0	0	0	0	2	1	2	0	3	3	4	3	3	3	1	2			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:105979872G>A	ENST00000336660.5	-	4	503	c.383C>T	c.(382-384)tCg>tTg	p.S128L	AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000358129.4_Silent_p.F186F|FHL2_ENST00000393353.3_Silent_p.F186F|FHL2_ENST00000408995.1_Silent_p.F186F|FHL2_ENST00000393352.3_Silent_p.F186F|FHL2_ENST00000409177.1_Silent_p.F302F|FHL2_ENST00000344213.4_Silent_p.F296F|FHL2_ENST00000409807.1_Silent_p.F186F|FHL2_ENST00000322142.8_Silent_p.F186F			Q14192	FHL2_HUMAN	four and a half LIM domains 2	0	LIM zinc-binding 2.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						CGGTGCACACGAAGCACTCCT	0.607													4	31					0	0	0	0	A	105979872	G	A	105979872	3	1	158	1	0	0	0	0	1	0	0	0	5924	1049	37	1	289	1	FHL2	2	105979872	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	77344934	105979872	137219501	14	28425											
CNTNAP5	129684	broad.mit.edu	37	chr2	125261982	125261982	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaattgatgggctctcagtGagtttccagtttcgaacatg	10	13	10	8	1	1	2	1	2	1	0	4	3	2	2	1	1	1	3	1	1	2	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:125261982G>A	ENST00000431078.1	+	8	1537	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	391	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCTCTCAGTGAGTTTCCAGT	0.557													6	81					0	0	0	0	A	125261982	G	A	125261982	2	1	158	1	0	0	0	0	0	0	0	1	3680	1277	45	2		2	CNTNAP5	2	125261982	Silent	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	19282110	125261982	117937391	15	28426											
WDR33	55339	broad.mit.edu	37	chr2	128482013	128482013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcccacccacttccttctCtaccctgcaacagcaccaaa	11	8	2	20	0	1	0	0	0	1	0	4	0	3	0	5	0	4	2	5	0	3	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:128482013C>G	ENST00000322313.4	-	11	1248	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	364					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ACTTCCTTCTCTACCCTGCAA	0.468													15	70					0	0	0	0	G	128482013	C	G	128482013	3	3	158	1	0	0	0	0	1	0	0	0	17383	922	32	2	2968	2	WDR33	2	128482013	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	3220031	128482013	114717360	16	28427											
XIRP2	129446	broad.mit.edu	37	chr2	168102167	168102167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcaatgtaaagacaagtaGacaattctttgagtctgaaa	16	11	9	5	0	2	4	0	2	2	2	2	4	2	4	0	1	0	3	0	1	7	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:168102167G>C	ENST00000409195.1	+	9	4354	c.4265G>C	c.(4264-4266)aGa>aCa	p.R1422T	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1422T|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1200T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1247					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						AAGACAAGTAGACAATTCTTT	0.328													6	36					0	0	0	0	C	168102167	G	C	168102167	3	2	158	1	0	0	0	0	1	0	0	0	17526	942	33	2	4295	2	XIRP2	2	168102167	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	39620154	168102167	75097206	17	28428											
TTN	7273	broad.mit.edu	37	chr2	179444520	179444520	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctttttccagccaatgctAcaggatgacttagatacaga	12	11	9	9	0	0	3	0	1	0	2	1	4	1	4	2	2	4	2	2	2	4	5			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:179444520A>G	ENST00000589042.1	-	319	67628	c.67404T>C	c.(67402-67404)tgT>tgC	p.C22468C	TTN_ENST00000591111.1_Silent_p.C20827C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.C13595C|TTN_ENST00000359218.5_Silent_p.C13528C|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342992.6_Silent_p.C19900C|TTN_ENST00000460472.2_Silent_p.C13403C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20827	Ig-like 116.						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)			AGCCAATGCTACAGGATGACT	0.413													14	85					0	0	0	0	G	179444520	A	G	179444520	2	3	158	1	0	0	0	0	0	0	0	1	16831	389	14	5		5	TTN	2	179444520	Silent	SNP	A	TCGA-CQ-7069-01A-11D-2394-08	11342353	179444520	63754853	18	28429											
ADAM23	8745	broad.mit.edu	37	chr2	207345997	207345997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcttccagattgaagccttCggctccaaattcattcttga	10	13	7	11	1	2	3	1	2	1	1	5	3	4	3	3	1	2	2	3	1	2	6	rs141683172		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:207345997C>T	ENST00000264377.3	+	3	802	c.474C>T	c.(472-474)ttC>ttT	p.F158F	ADAM23_ENST00000374416.1_Silent_p.F158F|ADAM23_ENST00000374415.3_Silent_p.F158F	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	158					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTGAAGCCTTCGGCTCCAAAT	0.383													12	41					0	0	0	0	T	207345997	C	T	207345997	2	4	158	1	0	0	0	0	0	0	0	1	245	883	31	1		1	ADAM23	2	207345997	Silent	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	27901477	207345997	35853376	19	28430											
ZNF142	7701	broad.mit.edu	37	chr2	219508100	219508100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgtccccccctgcagccttCagccacgtgagaggtaatag	9	7	10	15	2	1	1	1	1	0	1	2	2	2	1	5	1	3	2	5	1	2	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:219508100C>G	ENST00000411696.2	-	7	3918	c.3139G>C	c.(3139-3141)Gaa>Caa	p.E1047Q	ZNF142_ENST00000449707.1_Missense_Mutation_p.E1047Q			P52746	ZN142_HUMAN	zinc finger protein 142	1047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTGCAGCCTTCAGCCACGTGA	0.612													30	51					0	0	0	0	G	219508100	C	G	219508100	3	3	158	1	0	0	0	0	1	0	0	0	17826	835	29	2	1936	2	ZNF142	2	219508100	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	12162103	219508100	23691273	20	28431											
BHLHE40	8553	broad.mit.edu	37	chr3	5025010	5025010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accccccacaaaaaagaaccGgatgcagctttcggatgatg	14	6	9	12	2	0	2	0	1	0	1	1	4	0	4	4	2	3	2	4	2	4	1			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr3:5025010G>A	ENST00000256495.3	+	5	1475	c.872G>A	c.(871-873)cGg>cAg	p.R291Q		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	291						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						AAAAAGAACCGGATGCAGCTT	0.562													5	90					0	0	0	0	A	5025010	G	A	5025010	3	1	158	1	0	0	0	0	1	0	0	0	1428	1116	39	1	890	1	BHLHE40	3	5025010	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08		5025010	192997420	21	28432											
KIAA1407	57577	broad.mit.edu	37	chr3	113697072	113697072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctcatgcttgccctgaGaatcgatcttcacctccctg	8	12	6	15	1	3	1	2	1	2	1	6	3	4	1	3	0	2	1	3	0	2	2			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr3:113697072G>T	ENST00000295878.3	-	16	2713	c.2567C>A	c.(2566-2568)tCt>tAt	p.S856Y		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	856										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTTGCCCTGAGAATCGATCTT	0.408													26	88					5.77227e-19	6.15391e-19	1	0	T	113697072	G	T	113697072	3	4	158	1	0	0	0	0	1	0	0	0	8280	942	33	2	251	2	KIAA1407	3	113697072	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	108672062	113697072	84325358	22	28433											
PLXND1	23129	broad.mit.edu	37	chr3	129290645	129290645	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaggcaccggagccggcagGgccccctcaggcatggtgca	8	3	15	15	2	1	0	1	0	0	0	1	1	1	1	4	6	2	4	4	6	0	0			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr3:129290645G>T	ENST00000393239.1	-	16	3298	c.3120C>A	c.(3118-3120)gcC>gcA	p.A1040A	PLXND1_ENST00000324093.4_Silent_p.A1040A			Q9Y4D7	PLXD1_HUMAN	plexin D1	1040	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GAGCCGGCAGGGCCCCCTCAG	0.662													19	45					1.50039e-11	1.58648e-11	1	0	T	129290645	G	T	129290645	2	4	158	1	0	0	0	0	0	0	0	1	12199	1219	43	4		4	PLXND1	3	129290645	Silent	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	15593573	129290645	68731785	23	28434											
ATR	545	broad.mit.edu	37	chr3	142268991	142268991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtaagaaaacgattaaGatcaggaaagtcgaaaacgt	20	7	9	5	3	1	2	1	0	0	2	2	5	1	3	0	1	3	1	0	1	8	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr3:142268991G>T	ENST00000350721.4	-	14	3080	c.2959C>A	c.(2959-2961)Ctt>Att	p.L987I	ATR_ENST00000383101.3_Missense_Mutation_p.L923I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	987					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAACGATTAAGATCAGGAAAG	0.368								Other conserved DNA damage response genes					11	52					6.40141e-05	6.55383e-05	1	0	T	142268991	G	T	142268991	3	4	158	1	0	0	0	0	1	0	0	0	1208	942	33	2	5111	2	ATR	3	142268991	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	12978346	142268991	55753439	24	28435											
CHST2	9435	broad.mit.edu	37	chr3	142840967	142840967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaccccgtcaagacactaCggagagtgtacgattttgtg	11	9	12	9	3	1	3	1	0	0	3	1	6	1	3	2	1	2	1	2	1	3	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr3:142840967C>T	ENST00000309575.3	+	2	2693	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	437					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CAAGACACTACGGAGAGTGTA	0.602													12	49					0	0	0	0	T	142840967	C	T	142840967	3	4	158	1	0	0	0	0	1	0	0	0	3433	527	19	1	1311	1	CHST2	3	142840967	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	571976	142840967	55181463	25	28436											
POLN	353497	broad.mit.edu	37	chr4	2160929	2160929	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatggatgaaggtctcgcaGagcatttaactaaacatgaa	16	10	9	6	1	1	3	0	2	1	1	2	4	1	4	0	2	3	2	0	2	6	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr4:2160929G>C	ENST00000511885.2	-	14	1917	c.1564C>G	c.(1564-1566)Ctg>Gtg	p.L522V	POLN_ENST00000382865.1_Missense_Mutation_p.L522V|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	522					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AGGTCTCGCAGAGCATTTAAC	0.328								DNA polymerases (catalytic subunits)					18	59					0	0	0	0	C	2160929	G	C	2160929	3	2	158	1	0	0	0	0	1	0	0	0	12279	933	33	2	1190	2	POLN	4	2160929	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08		2160929	188993347	26	28437											
PRDM8	56978	broad.mit.edu	37	chr4	81123447	81123447	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccggggaggcagcagctgCtccccagcccagagcctcag	7	4	13	17	1	1	1	1	0	0	1	3	2	3	2	5	3	5	4	5	3	0	0			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr4:81123447C>T	ENST00000339711.4	+	10	2062	c.831C>T	c.(829-831)tgC>tgT	p.C277C	PRDM8_ENST00000504452.1_Silent_p.C277C|PRDM8_ENST00000415738.2_Silent_p.C277C	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	277	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCAGCAGCTGCTCCCCAGCCC	0.731											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	34					0	0	0	0	T	81123447	C	T	81123447	2	4	158	1	0	0	0	0	0	0	0	1	12542	805	28	4		4	PRDM8	4	81123447	Silent	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	78962518	81123447	110030829	27	28438											
AFF1	4299	broad.mit.edu	37	chr4	88016103	88016103	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaaaaactcactcaaattCtcagcaaggaacgtcatcgt	15	10	5	11	2	5	0	5	0	1	0	7	1	5	1	0	1	3	1	0	1	5	2			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr4:88016103C>G	ENST00000307808.6	+	7	1664	c.1244C>G	c.(1243-1245)tCt>tGt	p.S415C	AFF1_ENST00000395146.4_Missense_Mutation_p.S422C|AFF1_ENST00000544085.1_Missense_Mutation_p.S53C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	415						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CACTCAAATTCTCAGCAAGGA	0.338													14	29					0	0	0	0	G	88016103	C	G	88016103	3	3	158	1	0	0	0	0	1	0	0	0	356	913	32	2	1312	2	AFF1	4	88016103	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	6892656	88016103	103138173	28	28439											
KLHL2	11275	broad.mit.edu	37	chr4	166159977	166159977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagttagaataaaagaggtaGatggctggaccctgaggatg	14	8	15	4	0	0	4	0	1	0	3	0	7	0	6	1	4	0	3	1	4	5	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr4:166159977G>A	ENST00000226725.6	+	4	566	c.307G>A	c.(307-309)Gat>Aat	p.D103N	KLHL2_ENST00000538127.1_Missense_Mutation_p.D15N|KLHL2_ENST00000421009.2_Intron|KLHL2_ENST00000514860.1_Missense_Mutation_p.D107N	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	103	BTB.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AAAAGAGGTAGATGGCTGGAC	0.403													13	75					0	0	0	0	A	166159977	G	A	166159977	3	1	158	1	0	0	0	0	1	0	0	0	8426	942	33	2	363	2	KLHL2	4	166159977	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	78143874	166159977	24994299	29	28440											
PCDHA13	56136	broad.mit.edu	37	chr5	140263296	140263296	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacggtgtctgctcaggaCgcggacgcacaggagaacgc	9	6	14	12	5	3	1	2	0	1	1	3	4	3	3	0	4	2	2	0	4	1	1			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr5:140263296C>T	ENST00000289272.2	+	1	1443	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.D481D|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCAGGACGCGGACGCAC	0.662													25	130					0	0	0	0	T	140263296	C	T	140263296	2	4	158	1	0	0	0	0	0	0	0	1	11594	535	19	1		1	PCDHA13	5	140263296	Silent	SNP	C	TCGA-CQ-7069-01A-11D-2394-08		140263296	40651964	30	28441											
MAML1	9794	broad.mit.edu	37	chr5	179193111	179193111	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaaacctgatgccggcatCagcccaggcccagaacgcac	11	4	9	17	2	1	2	1	1	0	1	2	2	2	2	5	2	4	2	5	2	2	0			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr5:179193111C>G	ENST00000292599.3	+	2	1363	c.1100C>G	c.(1099-1101)tCa>tGa	p.S367*	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	367					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGCCGGCATCAGCCCAGGCC	0.627													16	57					0	0	0	0	G	179193111	C	G	179193111	4	3	158	1	0	0	0	0	0	1	0	0	9274	838	29	2	1106	2	MAML1	5	179193111	Nonsense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	38929815	179193111	1722149	31	28442											
FOXF2	2295	broad.mit.edu	37	chr6	1391351	1391351	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacgctcgcgaggacctctCaggtaacgcagcacgctcca	10	5	11	15	5	1	0	1	0	1	0	4	3	2	1	2	2	3	5	2	2	2	1			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:1391351C>G	ENST00000259806.1	+	1	1283	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	390					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		GAGGACCTCTCAGGTAACGCA	0.677													5	23					0	0	0	0	G	1391351	C	G	1391351	4	3	158	1	0	0	0	0	0	1	0	0	6053	838	29	2	1171	2	FOXF2	6	1391351	Nonsense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08		1391351	169723716	32	28443											
ALDH5A1	7915	broad.mit.edu	37	chr6	24505178	24505178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcgtggtgaagcctgccGaagacacgcccttctccgcc	6	8	11	16	4	1	2	0	1	1	1	3	3	1	2	5	1	2	0	5	1	2	1			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:24505178G>A	ENST00000357578.3	+	4	836	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.E231K|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.E203K|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.E143K	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	231					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GAAGCCTGCCGAAGACACGCC	0.577													38	109					0	0	0	0	A	24505178	G	A	24505178	3	1	158	1	0	0	0	0	1	0	0	0	502	1059	37	1	705	1	ALDH5A1	6	24505178	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	23113827	24505178	146609889	33	28444											
LRRC16A	55604	broad.mit.edu	37	chr6	25500420	25500420	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttattgggcctggcttgtaAtcataacttgaaaggggttt	9	15	12	5	0	1	1	1	1	0	0	1	1	1	1	1	4	1	4	1	4	4	7			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:25500420A>T	ENST00000329474.6	+	17	1720	c.1352A>T	c.(1351-1353)aAt>aTt	p.N451I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	451					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTGGCTTGTAATCATAACTTG	0.428													7	18					0	0	0	0	T	25500420	A	T	25500420	3	4	158	1	0	0	0	0	1	0	0	0	9035	101	4	5	1418	5	LRRC16A	6	25500420	Missense_Mutation	SNP	A	TCGA-CQ-7069-01A-11D-2394-08	995242	25500420	145614647	34	28445											
SCAND3	114821	broad.mit.edu	37	chr6	28554443	28554443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgataatctccccttgttCttctggagcctggccagcca	6	14	8	13	0	3	1	0	1	3	0	4	2	3	2	5	2	2	1	5	2	1	5			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:28554443C>T	ENST00000452236.2	-	1	669	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	18					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCCCCTTGTTCTTCTGGAGCC	0.502													10	56					0	0	0	0	T	28554443	C	T	28554443	3	4	158	1	0	0	0	0	1	0	0	0	13962	922	32	2	3941	2	SCAND3	6	28554443	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	3054023	28554443	142560624	35	28446											
VPS52	6293	broad.mit.edu	37	chr6	33232217	33232217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcggacgctctgaacattCatctccaggatcagttcaaa	11	11	7	12	2	5	1	3	1	2	0	7	3	5	3	1	2	1	2	1	2	2	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:33232217C>T	ENST00000445902.2	-	14	1676	c.1458G>A	c.(1456-1458)atG>atA	p.M486I	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.M361I	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	486					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TCTGAACATTCATCTCCAGGA	0.547													24	109					0	0	0	0	T	33232217	C	T	33232217	3	4	158	1	0	0	0	0	1	0	0	0	17310	826	29	2	741	2	VPS52	6	33232217	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	4677774	33232217	137882850	36	28447											
RPL10A	4736	broad.mit.edu	37	chr6	35438014	35438014	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcaagcagattccacgaatCctcggcccaggtttaaataa	14	9	7	11	2	1	1	1	0	0	1	4	2	3	1	3	2	1	2	3	2	5	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:35438014C>G	ENST00000322203.6	+	5	396	c.369C>G	c.(367-369)atC>atG	p.I123M	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	123					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						TTCCACGAATCCTCGGCCCAG	0.478													7	54					0	0	0	0	G	35438014	C	G	35438014	3	3	158	1	0	0	0	0	1	0	0	0	13640	845	30	2	387	2	RPL10A	6	35438014	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	2205797	35438014	135677053	37	28448											
YIPF3	25844	broad.mit.edu	37	chr6	43481347	43481347	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggggaagttgaccatcttGatagggatcatggactccag	10	10	14	7	0	2	2	1	2	1	0	3	5	3	5	2	4	0	1	2	4	2	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:43481347G>C	ENST00000372422.2	-	4	602	c.420C>G	c.(418-420)atC>atG	p.I140M	YIPF3_ENST00000506469.1_Missense_Mutation_p.I146M	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	140					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TGACCATCTTGATAGGGATCA	0.562													15	54					0	0	0	0	C	43481347	G	C	43481347	3	2	158	1	0	0	0	0	1	0	0	0	17575	1280	45	2	656	2	YIPF3	6	43481347	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	8043333	43481347	127633720	38	28449											
MRPS18A	55168	broad.mit.edu	37	chr6	43639527	43639527	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcttccaaggtgttcttGagtagcagacattgtccctc	9	12	9	11	0	1	2	0	1	1	1	4	2	3	2	2	1	2	4	2	1	2	5			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:43639527G>C	ENST00000372133.3	-	6	574	c.563C>G	c.(562-564)tCa>tGa	p.S188*	RSPH9_ENST00000372163.4_3'UTR|RSPH9_ENST00000372165.4_3'UTR|MRPS18A_ENST00000372116.1_3'UTR	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	188					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			AGGTGTTCTTGAGTAGCAGAC	0.587													12	68					0	0	0	0	C	43639527	G	C	43639527	4	2	158	1	0	0	0	0	0	1	0	0	9898	1294	45	2	31	2	MRPS18A	6	43639527	Nonsense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	158180	43639527	127475540	39	28450											
CLIC5	53405	broad.mit.edu	37	chr6	45909312	45909312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgctgcttggtatttttGatgtaggcagaaaacttgga	9	16	11	5	0	1	2	0	1	1	1	1	3	1	3	0	3	3	5	0	3	4	7			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:45909312G>C	ENST00000185206.6	-	4	1007	c.855C>G	c.(853-855)atC>atG	p.I285M	CLIC5_ENST00000544153.1_Missense_Mutation_p.I126M|CLIC5_ENST00000339561.6_Missense_Mutation_p.I126M	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	285	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						TGGTATTTTTGATGTAGGCAG	0.502													22	70					0	0	0	0	C	45909312	G	C	45909312	3	2	158	1	0	0	0	0	1	0	0	0	3559	1280	45	2	389	2	CLIC5	6	45909312	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	2269785	45909312	125205755	40	28451											
COL12A1	1303	broad.mit.edu	37	chr6	75892796	75892796	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatagctgccaattcttgctCaattctaaggcagatagact	12	13	7	9	0	3	2	1	0	2	2	3	2	3	2	1	1	3	3	1	1	6	7			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:75892796C>G	ENST00000322507.8	-	10	2170	c.1861G>C	c.(1861-1863)Gag>Cag	p.E621Q	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.E621Q|COL12A1_ENST00000416123.2_Missense_Mutation_p.E621Q	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	621					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AATTCTTGCTCAATTCTAAGG	0.368													18	50					0	0	0	0	G	75892796	C	G	75892796	3	3	158	1	0	0	0	0	1	0	0	0	3699	835	29	2	7558	2	COL12A1	6	75892796	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	29983484	75892796	95222271	41	28452											
PDSS2	57107	broad.mit.edu	37	chr6	107655427	107655427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagatcccactgaccatgtCatagttctgacatgaagtgt	11	12	9	9	0	2	4	1	3	1	1	3	4	3	4	2	0	0	2	2	0	3	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:107655427C>T	ENST00000369037.4	-	2	683	c.406G>A	c.(406-408)Gac>Aac	p.D136N	PDSS2_ENST00000453874.2_Missense_Mutation_p.D136N|PDSS2_ENST00000369031.4_Missense_Mutation_p.D136N	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	136					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		CTGACCATGTCATAGTTCTGA	0.463													19	70					0	0	0	0	T	107655427	C	T	107655427	3	4	158	1	0	0	0	0	1	0	0	0	11765	826	29	2	821	2	PDSS2	6	107655427	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	31762631	107655427	63459640	42	28453											
ROS1	6098	broad.mit.edu	37	chr6	117678014	117678014	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaattcggtgcaaggtgtGactgataatactgtagtaga	13	11	12	5	1	0	4	0	2	0	2	1	4	0	4	0	2	2	3	0	2	6	5			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:117678014G>C	ENST00000368508.3	-	25	4117	c.3919C>G	c.(3919-3921)Cac>Gac	p.H1307D	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.H1302D	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1307					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGCAAGGTGTGACTGATAATA	0.388			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								13	61					0	0	0	0	C	117678014	G	C	117678014	3	2	158	1	0	0	0	0	1	0	0	0	13616	1290	45	2	3200	2	ROS1	6	117678014	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	10022587	117678014	53437053	43	28454											
SGK1	6446	broad.mit.edu	37	chr6	134492849	134492849	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgtcataaggctgcttatGaagcacctcaggtgcgagat	10	10	11	10	1	2	2	2	1	0	1	2	3	2	2	2	2	3	3	2	2	3	2			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:134492849G>C	ENST00000367858.5	-	11	1690	c.1093C>G	c.(1093-1095)Cat>Gat	p.H365D	SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Missense_Mutation_p.H226D|SGK1_ENST00000528577.1_Missense_Mutation_p.H298D|SGK1_ENST00000367857.5_Missense_Mutation_p.H260D|SGK1_ENST00000237305.7_Missense_Mutation_p.H270D|SGK1_ENST00000413996.3_Missense_Mutation_p.H284D	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	270	AGC-kinase C-terminal.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GGCTGCTTATGAAGCACCTCA	0.493													8	30					0	0	0	0	C	134492849	G	C	134492849	3	2	158	1	0	0	0	0	1	0	0	0	14294	1290	45	2	503	2	SGK1	6	134492849	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	16814835	134492849	36622218	44	28455											
C6orf118	168090	broad.mit.edu	37	chr6	165715172	165715172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggaacatcctgtacctGtctgcgctggtggctccggc	5	9	13	14	3	1	0	0	0	1	0	3	1	3	1	3	4	3	4	3	4	2	1			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:165715172G>A	ENST00000543069.1	-	2	908	c.327C>T	c.(325-327)gaC>gaT	p.D109D	C6orf118_ENST00000230301.8_Silent_p.D213D			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	213										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCCTGTACCTGTCTGCGCTGG	0.617													25	95					0	0	0	0	A	165715172	G	A	165715172	2	1	158	1	0	0	0	0	0	0	0	1	2344	1368	48	4		4	C6orf118	6	165715172	Silent	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	31222323	165715172	5399895	45	28456											
NXPH1	30010	broad.mit.edu	37	chr7	8791010	8791010	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgataactgggaaaattgtaGatcatggcaatgggacattt	14	12	11	4	0	1	2	1	1	0	1	1	4	1	4	0	3	1	2	0	3	5	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:8791010G>C	ENST00000405863.1	+	3	1338	c.427G>C	c.(427-429)Gat>Cat	p.D143H	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.D26H	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	143	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GAAAATTGTAGATCATGGCAA	0.388													17	47					0	0	0	0	C	8791010	G	C	8791010	3	2	158	1	0	0	0	0	1	0	0	0	10861	942	33	2	433	2	NXPH1	7	8791010	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08		8791010	150347653	46	28457											
ABCA13	154664	broad.mit.edu	37	chr7	48428790	48428790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaccgccctgctggggaCaaacggtgccgggaaaacca	12	4	12	13	3	1	0	1	0	0	0	1	2	1	2	4	4	4	1	4	4	4	0			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:48428790C>T	ENST00000435803.1	+	37	11651	c.11627C>T	c.(11626-11628)aCa>aTa	p.T3876I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3876	ABC transporter 1.				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						CTGCTGGGGACAAACGGTGCC	0.498													20	55					0	0	0	0	T	48428790	C	T	48428790	3	4	158	1	0	0	0	0	1	0	0	0	31	478	17	4	11602	4	ABCA13	7	48428790	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	39637780	48428790	110709873	47	28458											
ZNF679	168417	broad.mit.edu	37	chr7	63709405	63709405	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtgtttctctgcgtccaGagctccagttcttctcttca	4	18	7	12	1	4	1	1	0	3	1	8	1	6	1	2	0	2	3	2	0	0	5			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:63709405G>C	ENST00000421025.1	+	2	179		c.e2-1			NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCTGCGTCCAGAGCTCCAGTT	0.498													5	15					0	0	0	0	C	63709405	G	C	63709405	5	2	158	1	0	0	0	0	0	0	1	0	18181	956	33	2		2	ZNF679	7	63709405	Splice_Site	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	15280615	63709405	95429258	48	28459											
FBXL13	222235	broad.mit.edu	37	chr7	102572360	102572360	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtcagagacattcaactCttgcaagttcctacagtggc	11	10	9	11	0	3	1	2	0	1	1	4	2	4	1	1	1	3	3	1	1	3	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:102572360C>G	ENST00000393772.2	-	9	1171	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	FBXL13_ENST00000313221.4_Missense_Mutation_p.E249Q|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.E249Q|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.E249Q|FBXL13_ENST00000436908.1_Missense_Mutation_p.E249Q|FBXL13_ENST00000379305.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000379306.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000379308.3_Missense_Mutation_p.E249Q			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	249										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ACATTCAACTCTTGCAAGTTC	0.353													14	48					0	0	0	0	G	102572360	C	G	102572360	3	3	158	1	0	0	0	0	1	0	0	0	5754	922	32	2	1510	2	FBXL13	7	102572360	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	38862955	102572360	56566303	49	28460											
FBXL13	222235	broad.mit.edu	37	chr7	102669089	102669089	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccatataagagtgccagtGatgaaatacagatttttgaa	15	13	8	5	0	0	5	0	3	0	2	1	5	1	5	2	0	2	0	2	0	5	6			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:102669089G>C	ENST00000393772.2	-	4	601	c.175C>G	c.(175-177)Cac>Gac	p.H59D	FBXL13_ENST00000313221.4_Missense_Mutation_p.H59D|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.H59D|FBXL13_ENST00000455112.2_Missense_Mutation_p.H59D|FBXL13_ENST00000436908.1_Missense_Mutation_p.H59D|FBXL13_ENST00000379305.3_Missense_Mutation_p.H59D|FBXL13_ENST00000379306.3_Missense_Mutation_p.H59D|FBXL13_ENST00000379308.3_Missense_Mutation_p.H59D			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	59										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GAGTGCCAGTGATGAAATACA	0.313													16	33					0	0	0	0	C	102669089	G	C	102669089	3	2	158	1	0	0	0	0	1	0	0	0	5754	1290	45	2	2100	2	FBXL13	7	102669089	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	96729	102669089	56469574	50	28461											
ZNF623	9831	broad.mit.edu	37	chr8	144732088	144732088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attctaatgtaggaactggtGagaagaaggtgactgaagcc	14	9	13	5	0	1	4	0	3	1	2	1	6	1	5	1	3	2	1	1	3	6	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:144732088G>A	ENST00000501748.2	+	1	135	c.46G>A	c.(46-48)Gag>Aag	p.E16K	ZNF623_ENST00000458270.2_5'UTR|ZNF623_ENST00000526926.1_5'UTR	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGAACTGGTGAGAAGAAGGT	0.458													21	68					0	0	0	0	A	144732088	G	A	144732088	3	1	158	1	0	0	0	0	1	0	0	0	18142	1291	45	2	48	2	ZNF623	8	144732088	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08		144732088	1631934	51	28462											
ZNF623	9831	broad.mit.edu	37	chr8	144732347	144732347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtgcaccaagtcaggaaGaaaccatattctgaattcag	15	9	9	8	0	3	2	2	1	1	1	3	3	3	3	2	1	2	1	2	1	5	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:144732347G>A	ENST00000501748.2	+	1	394	c.305G>A	c.(304-306)aGa>aAa	p.R102K	ZNF623_ENST00000458270.2_Missense_Mutation_p.R62K|ZNF623_ENST00000526926.1_Missense_Mutation_p.R62K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAGTCAGGAAGAAACCATATT	0.498													28	100					0	0	0	0	A	144732347	G	A	144732347	3	1	158	1	0	0	0	0	1	0	0	0	18142	942	33	2	307	2	ZNF623	8	144732347	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	259	144732347	1631675	52	28463											
EPPK1	83481	broad.mit.edu	37	chr8	144945596	144945596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggccagcaatgcagcccGtaccctgcaggtacctctgc	8	6	11	16	1	1	0	0	0	1	0	1	0	1	0	4	2	7	6	4	2	3	2			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:144945596G>A	ENST00000525985.1	-	2	1897	c.1826C>T	c.(1825-1827)aCg>aTg	p.T609M				P58107	EPIPL_HUMAN	epiplakin 1	609						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AATGCAGCCCGTACCCTGCAG	0.657													9	18					0	0	0	0	A	144945596	G	A	144945596	3	1	158	1	0	0	0	0	1	0	0	0	5228	1145	40	1	5440	1	EPPK1	8	144945596	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	213249	144945596	1418426	53	28464											
ADCK5	203054	broad.mit.edu	37	chr8	145617301	145617301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatccctagttctggtgcGgaaaggcccggacgggaaag	9	8	15	9	3	1	0	0	0	1	0	2	3	2	3	2	5	1	2	2	5	4	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:145617301G>A	ENST00000308860.6	+	11	1150	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	369	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTTCTGGTGCGGAAAGGCCCG	0.662													7	35					0	0	0	0	A	145617301	G	A	145617301	3	1	158	1	0	0	0	0	1	0	0	0	291	1116	39	1	1148	1	ADCK5	8	145617301	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	671705	145617301	746721	54	28465											
SH2D3C	10044	broad.mit.edu	37	chr9	130501101	130501101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtcgaacttctcatagCgccgggcctggctgctgctg	4	11	12	14	3	1	0	1	0	1	0	3	1	1	0	3	2	4	3	3	2	2	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr9:130501101C>T	ENST00000314830.8	-	12	2620	c.2507G>A	c.(2506-2508)cGc>cAc	p.R836H	SH2D3C_ENST00000420366.1_Missense_Mutation_p.R678H|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R768H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R679H|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R482H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R676H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	836	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCTCATAGCGCCGGGCCTG	0.647													4	9					0	0	0	0	T	130501101	C	T	130501101	3	4	158	1	0	0	0	0	1	0	0	0	14321	768	27	1	79	1	SH2D3C	9	130501101	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08		130501101	10712330	55	28466											
JMJD1C	221037	broad.mit.edu	37	chr10	64960345	64960345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtaaattaggccctatctCacagcaggagtcatcctgta	11	12	8	10	0	2	0	2	0	1	0	4	1	3	1	2	2	1	3	2	2	5	5			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr10:64960345C>T	ENST00000399262.2	-	11	5385	c.5167G>A	c.(5167-5169)Gag>Aag	p.E1723K	JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1504K|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1541K|JMJD1C_ENST00000399251.1_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1723					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGCCCTATCTCACAGCAGGAG	0.398													10	18					0	0	0	0	T	64960345	C	T	64960345	3	4	158	1	0	0	0	0	1	0	0	0	8003	835	29	2	2519	2	JMJD1C	10	64960345	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08		64960345	70574402	56	28467											
CHUK	1147	broad.mit.edu	37	chr10	101961844	101961844	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatgacgtcaatgattttaCctcagcatagtggatggcct	11	12	10	8	1	2	2	2	2	0	0	2	4	2	3	2	2	2	1	2	2	4	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr10:101961844C>T	ENST00000370397.7	-	14	1656		c.e14+1			NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase						I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		AATGATTTTACCTCAGCATAG	0.313													20	43					0	0	0	0	T	101961844	C	T	101961844	5	4	158	1	0	0	0	0	0	0	1	0	3445	521	18	4	699	4	CHUK	10	101961844	Splice_Site	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	37001499	101961844	33572903	57	28468											
TRIM6	117854	broad.mit.edu	37	chr11	5626677	5626677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctggaacaggaagagaaGaaggggctacgaattataga	18	5	14	4	1	0	3	0	0	0	3	0	7	0	5	0	4	3	2	0	4	9	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:5626677G>C	ENST00000380097.3	+	4	956	c.714G>C	c.(712-714)aaG>aaC	p.K238N	TRIM6_ENST00000507320.1_Missense_Mutation_p.K35N|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000515022.1_Missense_Mutation_p.K35N|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.K238N|TRIM6_ENST00000445329.1_Missense_Mutation_p.K35N|TRIM6_ENST00000380107.1_Missense_Mutation_p.K184N|TRIM6_ENST00000506134.1_Missense_Mutation_p.K35N|TRIM6_ENST00000278302.5_Missense_Mutation_p.K210N|HBG2_ENST00000380259.2_Intron	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGAAGAGAAGAAGGGGCTAC	0.517											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	25	71					0	0	0	0	C	5626677	G	C	5626677	3	2	158	1	0	0	0	0	1	0	0	0	16628	933	33	2	728	2	TRIM6	11	5626677	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08		5626677	129379839	58	28469											
STK33	65975	broad.mit.edu	37	chr11	8494819	8494819	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctacatttgaggttcttGagggctgggaccaaaaaaaa	13	11	10	7	0	2	2	0	2	2	0	3	3	2	3	1	3	1	2	1	3	5	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:8494819G>C	ENST00000447869.1	-	2	1148	c.230C>G	c.(229-231)tCa>tGa	p.S77*	STK33_ENST00000396673.1_Nonsense_Mutation_p.S77*|STK33_ENST00000534493.1_Nonsense_Mutation_p.S36*|STK33_ENST00000358872.3_Intron|STK33_ENST00000396672.1_Nonsense_Mutation_p.S77*|STK33_ENST00000315204.1_Nonsense_Mutation_p.S77*			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	77						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGAGGTTCTTGAGGGCTGGGA	0.338													23	54					0	0	0	0	C	8494819	G	C	8494819	4	2	158	1	0	0	0	0	0	1	0	0	15390	1294	45	2	1358	2	STK33	11	8494819	Nonsense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	2868142	8494819	126511697	59	28470											
OR5D14	219436	broad.mit.edu	37	chr11	55563802	55563802	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	accatcttccatgggaccatCcttttcctttactgtgtacc	7	15	5	14	0	1	0	0	0	1	0	4	1	4	1	6	1	2	1	6	1	2	6			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:55563802C>G	ENST00000335605.1	+	1	771	c.771C>G	c.(769-771)atC>atG	p.I257M		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATGGGACCATCCTTTTCCTTT	0.483													19	68					0	0	0	0	G	55563802	C	G	55563802	3	3	158	1	0	0	0	0	1	0	0	0	11226	845	30	2	773	2	OR5D14	11	55563802	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	47068983	55563802	79442714	60	28471											
OR5B17	219965	broad.mit.edu	37	chr11	58125894	58125894	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatggtgatcaatatgaacaGataggaaatcaaggtaacaa	20	8	9	4	0	2	3	2	2	0	1	2	4	2	4	0	3	2	1	0	3	9	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:58125894G>A	ENST00000357377.3	-	1	648	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AATATGAACAGATAGGAAATC	0.363													12	51					0	0	0	0	A	58125894	G	A	58125894	2	1	158	1	0	0	0	0	0	0	0	1	11220	933	33	2		2	OR5B17	11	58125894	Silent	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	2562092	58125894	76880622	61	28472											
DNAJC4	3338	broad.mit.edu	37	chr11	63999401	63999401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcctggtgccagcactgagGaagttaaacgagctttcttc	10	11	10	10	1	1	1	0	1	1	0	3	3	2	2	2	2	4	3	2	2	3	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:63999401G>A	ENST00000321685.3	+	3	610	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	DNAJC4_ENST00000355040.4_Missense_Mutation_p.E49K|RP11-783K16.14_ENST00000539963.1_RNA|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321460.5_Missense_Mutation_p.E49K	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	49	J.				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						CAGCACTGAGGAAGTTAAACG	0.552													27	58					0	0	0	0	A	63999401	G	A	63999401	3	1	158	1	0	0	0	0	1	0	0	0	4685	1175	41	2	151	2	DNAJC4	11	63999401	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	5873507	63999401	71007115	62	28473											
FRMD8	83786	broad.mit.edu	37	chr11	65156899	65156899	+	Frame_Shift_Del	DEL	G	G	-																															gctgtggagaacctgccctcGctcagtgcccatgagctgca																										TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:65156899delG	ENST00000317568.5	+	3	316	c.153delG	c.(151-153)tcfs	p.S51fs	FRMD8_ENST00000416776.2_Frame_Shift_Del_p.S51fs|FRMD8_ENST00000355991.5_Intron	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	51	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						ACCTGCCCTCGCTCAGTGCCC	0.652													31	95	---	---	---	---					-	65156899	G	-	65156899	7	5	158	1	0	1	0	1	0	0	0	0	6104	1074	38	0	159	0	FRMD8	11	65156899	Frame_Shift_Del	DEL	G	TCGA-CQ-7069-01A-11D-2394-08	1157498	65156899	69849617	63	28474											
NLRX1	79671	broad.mit.edu	37	chr11	119050915	119050915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggaaggcatgccctggatGaggtgaacttggcctcctgc	7	8	15	11	1	0	2	0	2	0	0	1	4	1	4	3	5	3	1	3	5	2	1			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:119050915G>A	ENST00000409109.1	+	7	2772	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	NLRX1_ENST00000292199.2_Missense_Mutation_p.E729K|NLRX1_ENST00000409265.4_Missense_Mutation_p.E729K|NLRX1_ENST00000525863.1_Missense_Mutation_p.E729K|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Missense_Mutation_p.E729K			Q86UT6	NLRX1_HUMAN	NLR family member X1	729	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGCCCTGGATGAGGTGAACTT	0.627													24	79					0	0	0	0	A	119050915	G	A	119050915	3	1	158	1	0	0	0	0	1	0	0	0	10555	1291	45	2	2207	2	NLRX1	11	119050915	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	53894016	119050915	15955601	64	28475											
MBD6	114785	broad.mit.edu	37	chr12	57919632	57919632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccagtgtcttcagccaCtatgcacctgcccctggtcc	6	9	8	18	0	2	0	1	0	1	0	3	0	3	0	7	1	3	1	7	1	1	2			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr12:57919632C>G	ENST00000355673.3	+	6	1237	c.881C>G	c.(880-882)aCt>aGt	p.T294S	MBD6_ENST00000431731.2_Missense_Mutation_p.T294S	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	294	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCTTCAGCCACTATGCACCTG	0.667													22	73					0	0	0	0	G	57919632	C	G	57919632	3	3	158	1	0	0	0	0	1	0	0	0	9417	565	20	4	895	4	MBD6	12	57919632	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08		57919632	75932263	65	28476											
TRHDE	29953	broad.mit.edu	37	chr12	72863624	72863624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacaaagaatactgctggatCccagtgtttcatctatttct	12	14	6	9	0	3	1	1	0	2	1	4	2	4	2	1	1	3	2	1	1	5	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr12:72863624C>T	ENST00000261180.4	+	4	1363	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	423					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTGCTGGATCCCAGTGTTTC	0.373													8	43					0	0	0	0	T	72863624	C	T	72863624	3	4	158	1	0	0	0	0	1	0	0	0	16574	855	30	2	1281	2	TRHDE	12	72863624	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	14943992	72863624	60988271	66	28477											
TMTC3	160418	broad.mit.edu	37	chr12	88584309	88584309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatctggctaacctgatccGagcaaatgagtcccgactgg	11	8	10	12	2	1	2	0	2	1	0	3	4	3	2	3	2	2	2	3	2	3	1			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr12:88584309G>A	ENST00000266712.6	+	12	1836	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	539						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AACCTGATCCGAGCAAATGAG	0.438													17	56					0	0	0	0	A	88584309	G	A	88584309	3	1	158	1	0	0	0	0	1	0	0	0	16356	1058	37	1	1658	1	TMTC3	12	88584309	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	15720685	88584309	45267586	67	28478											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100452246	100452246	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaagggatatggctaaggtCaacactcatagatctgttgt	13	12	10	6	0	3	1	2	0	1	1	3	2	3	2	0	3	1	2	0	3	6	5			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr12:100452246C>G	ENST00000279907.7	-	14	3021	c.2809G>C	c.(2809-2811)Gac>Cac	p.D937H	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D587H	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	937										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGGCTAAGGTCAACACTCATA	0.303													4	45					0	0	0	0	G	100452246	C	G	100452246	3	3	158	1	0	0	0	0	1	0	0	0	17065	826	29	2	1617	2	UHRF1BP1L	12	100452246	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	11867937	100452246	33399649	68	28479											
AACS	65985	broad.mit.edu	37	chr12	125561121	125561121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaaaacctcctgcggCacaaagagaatgacagagtt	16	6	10	9	1	0	4	0	1	0	3	1	5	1	4	2	1	3	3	2	1	4	1			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr12:125561121C>T	ENST00000316519.6	+	3	528	c.322C>T	c.(322-324)Cac>Tac	p.H108Y	AACS_ENST00000261686.6_Missense_Mutation_p.H108Y	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	108					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CCTCCTGCGGCACAAAGAGAA	0.498													29	60					0	0	0	0	T	125561121	C	T	125561121	3	4	158	1	0	0	0	0	1	0	0	0	9	710	25	4	332	4	AACS	12	125561121	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	25108875	125561121	8290774	69	28480											
N4BP2L1	90634	broad.mit.edu	37	chr13	32981423	32981423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcatttcccaggcgtggagGttggtattatcaataataat	11	15	9	6	1	2	0	2	0	0	0	3	1	3	1	1	4	0	2	1	4	5	7			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr13:32981423G>A	ENST00000380130.2	-	3	455	c.360C>T	c.(358-360)aaC>aaT	p.N120N	N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000380139.4_Silent_p.N120N|N4BP2L1_ENST00000530622.2_Silent_p.N14N|N4BP2L1_ENST00000380133.2_Silent_p.N120N	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	120					cell killing		ATP binding			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AGGCGTGGAGGTTGGTATTAT	0.398													15	77					0	0	0	0	A	32981423	G	A	32981423	2	1	158	1	0	0	0	0	0	0	0	1	10181	1252	44	4		4	N4BP2L1	13	32981423	Silent	SNP	G	TCGA-CQ-7069-01A-11D-2394-08		32981423	82188455	70	28481											
RB1	5925	broad.mit.edu	37	chr13	48955544	48955544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaacatttagaacgatgtGaacatcgaatcatggaatcc	17	10	7	7	2	1	2	1	1	0	1	3	5	2	3	1	1	3	0	1	1	7	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr13:48955544G>A	ENST00000267163.4	+	17	1798	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	554	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.C553fs*53(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGAACGATGTGAACATCGAAT	0.323		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			7	28					0	0	0	0	A	48955544	G	A	48955544	3	1	158	1	0	0	0	0	1	0	0	0	13180	1291	45	2	1726	2	RB1	13	48955544	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	15974121	48955544	66214334	71	28482											
THSD1	55901	broad.mit.edu	37	chr13	52960272	52960272	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgacgctctctgacaccatcCccacatgtggcactacactg	9	8	7	17	2	1	1	0	1	1	0	3	2	2	1	3	1	1	2	3	1	1	1			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr13:52960272C>A	ENST00000258613.4	-	4	1249	c.1071G>T	c.(1069-1071)ggG>ggT	p.G357G	THSD1_ENST00000349258.4_Intron|THSD1_ENST00000544466.1_5'UTR	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	357	TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TGACACCATCCCCACATGTGG	0.527													26	140					1.7367e-05	1.79227e-05	1	0	A	52960272	C	A	52960272	2	1	158	1	0	0	0	0	0	0	0	1	15971	610	22	4		4	THSD1	13	52960272	Silent	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	4004728	52960272	62209606	72	28483											
C14orf39	317761	broad.mit.edu	37	chr14	60923726	60923726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctaaaaatataggaatttCagacgttcgtggaaaattct	15	13	7	6	2	2	1	1	0	1	1	4	3	3	3	1	2	0	1	1	2	8	6			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr14:60923726C>T	ENST00000321731.3	-	15	1426	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	423										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATAGGAATTTCAGACGTTCGT	0.373													33	115					0	0	0	0	T	60923726	C	T	60923726	3	4	158	1	0	0	0	0	1	0	0	0	1784	835	29	2	512	2	C14orf39	14	60923726	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08		60923726	46425814	73	28484											
AQR	9716	broad.mit.edu	37	chr15	35192847	35192847	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggggtatttgtagagcaGggtcttctacagttacttta	10	14	12	5	0	2	1	0	0	2	1	2	1	2	1	0	3	3	4	0	3	6	8			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:35192847G>C	ENST00000156471.5	-	20	2444	c.2219C>G	c.(2218-2220)cCt>cGt	p.P740R		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	740						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTGTAGAGCAGGGTCTTCTAC	0.418													11	52					0	0	0	0	C	35192847	G	C	35192847	3	2	158	1	0	0	0	0	1	0	0	0	837	1000	35	4	2302	4	AQR	15	35192847	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08		35192847	67338545	74	28485											
AQR	9716	broad.mit.edu	37	chr15	35261749	35261749	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cccgagctcacctgggtcacGaactccgcattgatttggga	8	9	11	13	3	2	1	2	1	0	0	3	4	3	2	3	2	2	2	3	2	1	2			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:35261749G>C	ENST00000156471.5	-	1	291	c.66C>G	c.(64-66)ttC>ttG	p.F22L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	22						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CCTGGGTCACGAACTCCGCAT	0.587											OREG0023038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	31					0	0	0	0	C	35261749	G	C	35261749	3	2	158	1	0	0	0	0	1	0	0	0	837	1049	37	3	4531	3	AQR	15	35261749	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	68902	35261749	67269643	75	28486											
FSIP1	161835	broad.mit.edu	37	chr15	40005666	40005666	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattttccttcatcattttCagcttttcatcaatctctct	8	20	1	12	0	7	0	5	0	2	0	9	0	8	0	1	0	1	1	1	0	1	7			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:40005666C>T	ENST00000350221.3	-	10	1376	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	389										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TCATCATTTTCAGCTTTTCAT	0.368													24	114					0	0	0	0	T	40005666	C	T	40005666	2	4	158	1	0	0	0	0	0	0	0	1	6122	813	29	2		2	FSIP1	15	40005666	Silent	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	4743917	40005666	62525726	76	28487											
CEP152	22995	broad.mit.edu	37	chr15	49052436	49052436	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagttctcccagccatcgctGatgagcattttgcacagcta	9	12	8	12	1	1	2	0	2	1	0	3	2	1	2	2	0	4	5	2	0	2	5			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:49052436G>A	ENST00000380950.2	-	19	2777	c.2590C>T	c.(2590-2592)Cag>Tag	p.Q864*	CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q771*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q864*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	864					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AGCCATCGCTGATGAGCATTT	0.413													25	81					0	0	0	0	A	49052436	G	A	49052436	4	1	158	1	0	0	0	0	0	1	0	0	3277	1299	45	2	2406	2	CEP152	15	49052436	Nonsense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	9046770	49052436	53478956	77	28488											
BLM	641	broad.mit.edu	37	chr15	91306333	91306333	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttagaactaatcagctaGaggcgatcaatgctgcactg	13	11	9	8	1	2	2	2	0	0	2	2	3	2	2	0	1	4	3	0	1	5	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:91306333G>C	ENST00000355112.3	+	8	2138	c.2020G>C	c.(2020-2022)Gag>Cag	p.E674Q	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.E674Q	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	674					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TAATCAGCTAGAGGCGATCAA	0.378			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				31	94					0	0	0	0	C	91306333	G	C	91306333	3	2	158	1	0	0	0	0	1	0	0	0	1450	943	33	2	2046	2	BLM	15	91306333	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	42253897	91306333	11225059	78	28489											
LYSMD4	145748	broad.mit.edu	37	chr15	100269687	100269687	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgactgcactgcacgctCaatatcctggtcaatcccct	8	12	6	15	1	3	1	2	1	1	0	5	1	5	1	3	1	2	3	3	1	3	2			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:100269687C>G	ENST00000545021.1	-	4	968	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	LYSMD4_ENST00000332728.4_Missense_Mutation_p.E178Q|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000344791.2_Missense_Mutation_p.E179Q|LYSMD4_ENST00000409796.1_Missense_Mutation_p.E178Q			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	178					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			ACTGCACGCTCAATATCCTGG	0.577													46	147					0	0	0	0	G	100269687	C	G	100269687	3	3	158	1	0	0	0	0	1	0	0	0	9192	835	29	2	362	2	LYSMD4	15	100269687	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	8963354	100269687	2261705	79	28490											
SRL	6345	broad.mit.edu	37	chr16	4242493	4242493	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaccagttctccatcactGaagaaggtcattttgtcctt	11	13	7	10	0	3	3	2	1	1	2	5	3	4	3	3	1	0	1	3	1	3	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:4242493G>A	ENST00000399609.3	-	6	1095	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	SRL_ENST00000537996.1_Silent_p.F319F	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	820	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CTCCATCACTGAAGAAGGTCA	0.493													47	136					0	0	0	0	A	4242493	G	A	4242493	2	1	158	1	0	0	0	0	0	0	0	1	15240	1281	45	2		2	SRL	16	4242493	Silent	SNP	G	TCGA-CQ-7069-01A-11D-2394-08		4242493	86112260	80	28491											
NFAT5	10725	broad.mit.edu	37	chr16	69711109	69711109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttttctttacattagaatCatcttattgtgaaggttcct	9	19	6	7	0	3	2	1	1	2	1	4	2	4	2	1	1	1	2	1	1	5	8			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:69711109C>T	ENST00000349945.1	+	11	2831	c.1279C>T	c.(1279-1281)Cat>Tat	p.H427Y	NFAT5_ENST00000566899.1_Missense_Mutation_p.H427Y|NFAT5_ENST00000354436.2_Missense_Mutation_p.H503Y|NFAT5_ENST00000567239.1_Missense_Mutation_p.H521Y|NFAT5_ENST00000393742.2_Missense_Mutation_p.H427Y|NFAT5_ENST00000432919.1_Missense_Mutation_p.H521Y	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	503	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACATTAGAATCATCTTATTGT	0.313													6	65					0	0	0	0	T	69711109	C	T	69711109	3	4	158	1	0	0	0	0	1	0	0	0	10430	826	29	2	1599	2	NFAT5	16	69711109	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	65468616	69711109	20643644	81	28492											
NFAT5	10725	broad.mit.edu	37	chr16	69711219	69711219	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcatgatgttcaaccattCacttacactccagacccagg	11	11	5	14	0	3	2	3	1	1	1	5	2	4	2	3	1	2	1	3	1	2	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:69711219C>T	ENST00000349945.1	+	11	2941	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	NFAT5_ENST00000566899.1_Silent_p.F463F|NFAT5_ENST00000354436.2_Silent_p.F539F|NFAT5_ENST00000567239.1_Silent_p.F557F|NFAT5_ENST00000393742.2_Silent_p.F463F|NFAT5_ENST00000432919.1_Silent_p.F557F	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	539					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTCAACCATTCACTTACACTC	0.353													8	67					0	0	0	0	T	69711219	C	T	69711219	2	4	158	1	0	0	0	0	0	0	0	1	10430	825	29	2		2	NFAT5	16	69711219	Silent	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	110	69711219	20643534	82	28493											
AP1G1	164	broad.mit.edu	37	chr16	71789968	71789968	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcacagtctgctttaaattCtggctcacacgaatccagaa	12	11	7	11	1	3	1	1	0	2	1	4	2	4	1	1	1	2	3	1	1	4	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:71789968C>G	ENST00000299980.4	-	12	1624	c.1183G>C	c.(1183-1185)Gaa>Caa	p.E395Q	AP1G1_ENST00000433195.2_Missense_Mutation_p.E418Q|AP1G1_ENST00000569748.1_Missense_Mutation_p.E395Q|AP1G1_ENST00000423132.2_Missense_Mutation_p.E398Q|AP1G1_ENST00000393512.3_Missense_Mutation_p.E398Q	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	395					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GCTTTAAATTCTGGCTCACAC	0.373													15	115					0	0	0	0	G	71789968	C	G	71789968	3	3	158	1	0	0	0	0	1	0	0	0	733	922	32	2	1333	2	AP1G1	16	71789968	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	2078749	71789968	18564785	83	28494											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445945	87445945	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatttgcacattattaggAcaggaagtttgcccagaaat	13	13	8	7	0	0	1	0	0	0	1	0	3	0	3	1	2	2	2	1	2	5	5			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:87445945A>G	ENST00000268616.4	-	12	2188	c.1971T>C	c.(1969-1971)tgT>tgC	p.C657C		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	657					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CATTATTAGGACAGGAAGTTT	0.527													33	153					0	0	0	0	G	87445945	A	G	87445945	2	3	158	1	0	0	0	0	0	0	0	1	17678	273	10	5		5	ZCCHC14	16	87445945	Silent	SNP	A	TCGA-CQ-7069-01A-11D-2394-08	15655977	87445945	2908808	84	28495											
GAS8	2622	broad.mit.edu	37	chr16	90103716	90103716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtctgggcagaacaagcGcctggcagaccctctccaga	9	6	13	13	1	2	3	0	0	2	3	3	3	2	3	3	3	2	2	3	3	2	0	rs117053233	byFrequency	TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:90103716G>A	ENST00000268699.4	+	7	955	c.833G>A	c.(832-834)cGc>cAc	p.R278H	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Missense_Mutation_p.R253H	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	278					negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	p.R278L(1)|p.R278H(1)		endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		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;0.029)		CAGAACAAGCGCCTGGCAGAC	0.592													3	29					0	0	0	0	A	90103716	G	A	90103716	3	1	158	1	0	0	0	0	1	0	0	0	6300	1087	38	1	859	1	GAS8	16	90103716	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	2657771	90103716	251037	85	28496											
TP53	7157	broad.mit.edu	37	chr17	7577111	7577112	+	In_Frame_Ins	INS	-	-	CACAAA																															ccggtctctcccaggacaggINScacaaacacgcacctcaaag																										TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr17:7577111_7577112insCACAAA	ENST00000420246.2	-	8	958_959	c.826_827insTTTGTG	c.(826-828)ctg>TTTGTGctg	p.275_276insFV	TP53_ENST00000455263.2_In_Frame_Ins_p.275_276insFV|TP53_ENST00000359597.4_In_Frame_Ins_p.275_276insFV|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_In_Frame_Ins_p.275_276insFV|TP53_ENST00000269305.4_In_Frame_Ins_p.275_276insFV	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A276P(15)|p.A276S(9)|p.0?(8)|p.A276V(7)|p.A276T(7)|p.A276D(6)|p.A276G(4)|p.A276fs*69(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.F270_D281del12(1)|p.A276fs*31(1)|p.C275_R283delCACPGRDRR(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCCAGGACAGGCACAAACACGC	0.545		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	37	---	---	---	---					CACAAA	7577112	-	CACAAA	7577111	7	5	158	1	0	1	1	0	0	0	0	0	16476	1203	42	0	459	0	TP53	17	7577111	In_Frame_Ins	INS	-	TCGA-CQ-7069-01A-11D-2394-08		7577111	73618099	86	28497											
DNAH9	1770	broad.mit.edu	37	chr17	11597683	11597683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagagtacctcgacaccaaGaggcttgccttcccgcggtt	8	8	11	14	3	0	2	0	0	0	2	2	3	1	2	4	2	2	4	4	2	2	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr17:11597683G>C	ENST00000262442.3	+	22	4859	c.4791G>C	c.(4789-4791)aaG>aaC	p.K1597N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K1597N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1597	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCGACACCAAGAGGCTTGCCT	0.512													21	42					0	0	0	0	C	11597683	G	C	11597683	3	2	158	1	0	0	0	0	1	0	0	0	4644	933	33	2	4877	2	DNAH9	17	11597683	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	4020572	11597683	69597527	87	28498											
FBXW10	10517	broad.mit.edu	37	chr17	18653345	18653345	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctggatagacacaccctGaacaagtgcgcctctgtgag	11	8	11	11	1	1	3	0	2	1	1	1	4	1	4	2	1	3	1	2	1	3	1			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr17:18653345G>C	ENST00000308799.4	+	3	1200	c.981G>C	c.(979-981)ctG>ctC	p.L327L	FBXW10_ENST00000395665.4_Silent_p.L298L|FBXW10_ENST00000301938.4_Silent_p.L298L|FBXW10_ENST00000395667.1_Silent_p.L298L			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	298										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GACACACCCTGAACAAGTGCG	0.537													37	67					0	0	0	0	C	18653345	G	C	18653345	2	2	158	1	0	0	0	0	0	0	0	1	5808	1277	45	2		2	FBXW10	17	18653345	Silent	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	7055662	18653345	62541865	88	28499											
ABCA5	23461	broad.mit.edu	37	chr17	67260974	67260974	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gataaaaaataaggggatatCaacaacagcttgtccaatcc	18	8	7	8	0	1	0	1	0	0	0	3	2	3	1	2	2	3	1	2	2	8	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr17:67260974C>G	ENST00000392676.3	-	24	3281	c.3217G>C	c.(3217-3219)Gat>Cat	p.D1073H	ABCA5_ENST00000392677.2_Missense_Mutation_p.D1074H|ABCA5_ENST00000588877.1_Missense_Mutation_p.D1073H			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1073					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AAGGGGATATCAACAACAGCT	0.294													11	36					0	0	0	0	G	67260974	C	G	67260974	3	3	158	1	0	0	0	0	1	0	0	0	35	826	29	2	1775	2	ABCA5	17	67260974	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	48607629	67260974	13934236	89	28500											
SPPL2B	56928	broad.mit.edu	37	chr19	2340499	2340499	+	RNA	DEL	G	G	-																															cacagcccagagcttggcctGgctcttaggggtaaagggag																										TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr19:2340499delG	ENST00000452401.2	+	0	916				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		AGCTTGGCCTGGCTCTTAGGG	0.637													2	4	---	---	---	---					-	2340499	G	-	2340499	6	5	158	0	1	1	0	1	0	0	0	0	15179	1363	47	0		0	SPPL2B	19	2340499	RNA	DEL	G	TCGA-CQ-7069-01A-11D-2394-08		2340499	56788484	90	28501											
NOTCH3	4854	broad.mit.edu	37	chr19	15291056	15291056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acccgcctgacacagctgctCcagccgcacccctgcaaaga	10	4	8	19	2	0	2	0	1	0	1	1	2	1	2	6	0	4	4	6	0	1	0			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr19:15291056C>G	ENST00000263388.2	-	20	3229	c.3154G>C	c.(3154-3156)Gag>Cag	p.E1052Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1052	EGF-like 27.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACAGCTGCTCCAGCCGCACC	0.587													10	41					0	0	0	0	G	15291056	C	G	15291056	3	3	158	1	0	0	0	0	1	0	0	0	10620	864	30	2	3867	2	NOTCH3	19	15291056	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	12950557	15291056	43837927	91	28502											
ZNF536	9745	broad.mit.edu	37	chr19	31039157	31039157	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcaggccacgggcatgtcTtcggaggtcccctcagatgc	6	7	15	13	2	2	1	1	0	1	1	4	2	3	2	3	5	1	2	3	5	0	1			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr19:31039157T>G	ENST00000355537.3	+	4	2778	c.2631T>G	c.(2629-2631)tcT>tcG	p.S877S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	877					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGGGCATGTCTTCGGAGGTCC	0.557													42	86					0	0	0	0	G	31039157	T	G	31039157	2	3	158	1	0	0	0	0	0	0	0	1	18069	1596	56	5		5	ZNF536	19	31039157	Silent	SNP	T	TCGA-CQ-7069-01A-11D-2394-08	15748101	31039157	28089826	92	28503											
RYR1	6261	broad.mit.edu	37	chr19	38943578	38943578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catctacttcgagcctccctCcgaggacttgcagcacgagg	8	8	10	15	3	1	0	0	0	1	0	4	4	3	1	3	2	4	2	3	2	1	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr19:38943578C>G	ENST00000355481.4	+	13	1495	c.1364C>G	c.(1363-1365)tCc>tGc	p.S455C	RYR1_ENST00000359596.3_Missense_Mutation_p.S455C|RYR1_ENST00000360985.3_Missense_Mutation_p.S455C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	455					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGCCTCCCTCCGAGGACTTG	0.672													9	27					0	0	0	0	G	38943578	C	G	38943578	3	3	158	1	0	0	0	0	1	0	0	0	13853	855	30	2	1414	2	RYR1	19	38943578	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	7904421	38943578	20185405	93	28504											
ZFP64	55734	broad.mit.edu	37	chr20	50701539	50701539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagcaggagtagctgcactCtggacacttctccgggtggt	7	9	15	10	1	2	0	0	0	2	0	3	3	2	3	1	5	3	4	1	5	1	2			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr20:50701539C>G	ENST00000361387.2	-	9	1555	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q	ZFP64_ENST00000371523.4_Missense_Mutation_p.E280Q|ZFP64_ENST00000371518.2_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TAGCTGCACTCTGGACACTTC	0.642													38	142					0	0	0	0	G	50701539	C	G	50701539	3	3	158	1	0	0	0	0	1	0	0	0	17747	922	32	2	446	2	ZFP64	20	50701539	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08		50701539	12323981	94	28505											
CABIN1	23523	broad.mit.edu	37	chr22	24468356	24468356	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccaaggagccccacgtctCttcagtgctaccctggatca	8	8	10	15	1	3	0	2	0	1	0	4	2	3	2	4	3	3	1	4	3	2	2			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr22:24468356C>G	ENST00000398319.2	+	18	2913	c.2528C>G	c.(2527-2529)tCt>tGt	p.S843C	CABIN1_ENST00000263119.5_Missense_Mutation_p.S843C|CABIN1_ENST00000405822.2_Missense_Mutation_p.S793C	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	843					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCCCACGTCTCTTCAGTGCTA	0.582													22	64					0	0	0	0	G	24468356	C	G	24468356	3	3	158	1	0	0	0	0	1	0	0	0	2553	913	32	2	2594	2	CABIN1	22	24468356	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08		24468356	26836210	95	28506											
ALG12	79087	broad.mit.edu	37	chr22	50301453	50301453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctccttgtgtggcaggaggGagtagagtgccatgaagccc	8	8	16	9	0	0	2	0	1	0	1	1	4	1	4	3	3	2	3	3	3	2	2			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr22:50301453G>A	ENST00000330817.5	-	7	1181	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	303					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCAGGAGGGAGTAGAGTGC	0.607													23	85					0	0	0	0	A	50301453	G	A	50301453	3	1	158	1	0	0	0	0	1	0	0	0	514	1174	41	2	574	2	ALG12	22	50301453	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	25833097	50301453	1003113	96	28507											
MAGEB18	286514	broad.mit.edu	37	chrX	26158052	26158052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaacagagaacccaagccaGagctgcagccagggctcata	14	3	12	12	0	1	2	1	0	0	2	1	4	1	3	3	2	6	3	3	2	4	1			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:26158052G>C	ENST00000325250.1	+	2	1137	c.950G>C	c.(949-951)aGa>aCa	p.R317T		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	317							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						ACCCAAGCCAGAGCTGCAGCC	0.517													7	29					0	0	0	0	C	26158052	G	C	26158052	3	2	158	1	0	0	0	0	1	0	0	0	9244	942	33	2	952	2	MAGEB18	23	26158052	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08		26158052	129112508	97	28508											
ELK1	2002	broad.mit.edu	37	chrX	47498684	47498684	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagcaccctgcgacctcaggGtaggacacaaacttgtagac	12	6	11	12	1	1	1	1	0	0	1	1	4	1	2	2	2	3	3	2	2	3	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:47498684G>T	ENST00000247161.3	-	3	363	c.264C>A	c.(262-264)taC>taA	p.Y88*	ELK1_ENST00000376983.3_Nonsense_Mutation_p.Y88*|ELK1_ENST00000592066.1_Nonsense_Mutation_p.Y34*|ELK1_ENST00000343894.4_Nonsense_Mutation_p.Y88*	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	88					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CGACCTCAGGGTAGGACACAA	0.587													8	27					0.00448238	0.00448238	1	0	T	47498684	G	T	47498684	4	4	158	1	0	0	0	0	0	1	0	0	5097	1256	44	4	1038	4	ELK1	23	47498684	Nonsense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	21340632	47498684	107771876	98	28509											
WAS	7454	broad.mit.edu	37	chrX	48544018	48544018	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttcttccacaccttcgctgGagatgtaagtgatcaaccag	10	11	8	12	1	2	2	1	1	1	1	4	3	3	2	3	1	1	2	3	1	2	4			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:48544018G>C	ENST00000376701.4	+	3	431	c.356G>C	c.(355-357)gGa>gCa	p.G119A	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	119	WH1.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				ACCTTCGCTGGAGATGTAAGT	0.607			"Mis, N, F, S"			lymphoma							5	18					0	0	0	0	C	48544018	G	C	48544018	3	2	158	1	0	0	0	0	1	0	0	0	17347	1174	41	2	366	2	WAS	23	48544018	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	1045334	48544018	106726542	99	28510											
KLHL4	56062	broad.mit.edu	37	chrX	86890598	86890598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacgtgatggaagttcctGcctcaaatcaatggaatact	12	11	10	8	1	2	1	2	1	0	0	3	4	3	4	2	3	2	1	2	3	5	2			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:86890598G>T	ENST00000373119.4	+	9	1893	c.1748G>T	c.(1747-1749)tGc>tTc	p.C583F	KLHL4_ENST00000373114.4_Missense_Mutation_p.C583F	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	583						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGAAGTTCCTGCCTCAAATCA	0.393													8	31					2.80697e-09	2.9439e-09	1	0	T	86890598	G	T	86890598	3	4	158	1	0	0	0	0	1	0	0	0	8443	1319	46	4	1782	4	KLHL4	23	86890598	Missense_Mutation	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	38346580	86890598	68379962	100	28511											
GPR112	139378	broad.mit.edu	37	chrX	135429020	135429020	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgtgctctcagatgtctCaaatctatcctcaactacaa	12	13	4	12	0	5	1	3	0	4	1	8	1	6	1	1	0	3	1	1	0	5	2			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:135429020C>G	ENST00000394143.1	+	6	3446	c.3155C>G	c.(3154-3156)tCa>tGa	p.S1052*	GPR112_ENST00000370652.1_Nonsense_Mutation_p.S1052*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.S989*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.S847*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.S847*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1052					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCAGATGTCTCAAATCTATCC	0.468													79	249					0	0	0	0	G	135429020	C	G	135429020	4	3	158	1	0	0	0	0	0	1	0	0	6678	838	29	2	3165	2	GPR112	23	135429020	Nonsense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	48538422	135429020	19841540	101	28512											
GPR112	139378	broad.mit.edu	37	chrX	135432497	135432497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcaactgtgtcttcacCaatatcgtccttttttgaaa	11	15	5	10	1	2	1	1	1	1	0	4	1	3	1	2	0	3	1	2	0	5	6			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:135432497C>T	ENST00000394143.1	+	6	6923	c.6632C>T	c.(6631-6633)cCa>cTa	p.P2211L	GPR112_ENST00000370652.1_Missense_Mutation_p.P2211L|GPR112_ENST00000287534.4_Missense_Mutation_p.P2148L|GPR112_ENST00000394141.1_Missense_Mutation_p.P2006L|GPR112_ENST00000412101.1_Missense_Mutation_p.P2006L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2211					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGTCTTCACCAATATCGTCC	0.448													35	108					0	0	0	0	T	135432497	C	T	135432497	3	4	158	1	0	0	0	0	1	0	0	0	6678	594	21	4	6642	4	GPR112	23	135432497	Missense_Mutation	SNP	C	TCGA-CQ-7069-01A-11D-2394-08	3477	135432497	19838063	102	28513											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													4	62					0	0	0	0	A	150156360	G	A	150156360	2	1	158	1	0	0	0	0	0	0	0	1	7277	991	35	4		4	HMGB3	23	150156360	Silent	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	14723863	150156360	5114200	103	28514											
BCAP31	10134	broad.mit.edu	37	chrX	152988622	152988622	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccataccttttaggagaaatGaagggaatgcagagaagcaa	17	7	11	6	0	0	3	0	1	0	2	0	6	0	4	2	2	3	2	2	2	7	3			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:152988622G>A	ENST00000458587.2	-	2	708	c.279C>T	c.(277-279)ttC>ttT	p.F93F	BCAP31_ENST00000441714.1_Silent_p.F26F|BCAP31_ENST00000345046.6_Silent_p.F26F	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	26					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGGAGAAATGAAGGGAATGC	0.552													11	37					0	0	0	0	A	152988622	G	A	152988622	2	1	158	1	0	0	0	0	0	0	0	1	1351	1281	45	2		2	BCAP31	23	152988622	Silent	SNP	G	TCGA-CQ-7069-01A-11D-2394-08	2832262	152988622	2281938	104	28515											
CLSTN1	22883	broad.mit.edu	37	chr1	9791371	9791371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgatgtgcggcccggatccGaaatacccccaggataatca	11	6	10	14	4	1	0	1	0	0	0	2	4	2	2	5	3	2	0	5	3	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:9791371G>A	ENST00000377298.4	-	18	3433	c.2641C>T	c.(2641-2643)Cgg>Tgg	p.R881W	CLSTN1_ENST00000377288.3_Missense_Mutation_p.R862W|CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_Missense_Mutation_p.R871W	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	881					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCGGATCCGAAATACCCCC	0.612													28	90					0	0	0	0	A	9791371	G	A	9791371	3	1	159	1	0	0	0	0	1	0	0	0	3591	1057	37	1	312	1	CLSTN1	1	9791371	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08		9791371	239459250	1	28516											
NMNAT1	64802	broad.mit.edu	37	chr1	10042519	10042519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtttatctatgaatcGgatgtgctgtggaaacaccg	12	11	11	7	2	1	2	0	1	1	1	2	4	1	4	1	2	2	2	1	2	5	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:10042519G>A	ENST00000377205.1	+	5	744	c.600G>A	c.(598-600)tcG>tcA	p.S200S		NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	200					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		TCTATGAATCGGATGTGCTGT	0.473													6	139					0	0	0	0	A	10042519	G	A	10042519	2	1	159	1	0	0	0	0	0	0	0	1	10568	1103	39	1		1	NMNAT1	1	10042519	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	251148	10042519	239208102	2	28517											
TNFRSF8	943	broad.mit.edu	37	chr1	12172069	12172069	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcctgcgtgagctgttctcGaggtaagggcctcgtccctc	4	10	14	13	3	1	1	0	1	1	0	5	2	2	1	3	3	2	3	3	3	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:12172069G>C	ENST00000263932.2	+	7	1013	c.791G>C	c.(790-792)cGa>cCa	p.R264P	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R153P	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	264					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGTTCTCGAGGTAAGGGC	0.577													13	39					0	0	0	0	C	12172069	G	C	12172069	3	2	159	1	0	0	0	0	1	0	0	0	16393	1058	37	3	817	3	TNFRSF8	1	12172069	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	2129550	12172069	237078552	3	28518											
PDPN	10630	broad.mit.edu	37	chr1	13910431	13910431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccccccaccgtcgcgctCctccaggctgggcctgtggc	2	6	13	20	3	0	0	0	0	0	0	3	0	2	0	7	4	0	2	7	4	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:13910431C>A	ENST00000294489.6	+	1	472	c.131C>A	c.(130-132)tCc>tAc	p.S44Y	PDPN_ENST00000376057.4_Missense_Mutation_p.S44Y			Q86YL7	PDPN_HUMAN	podoplanin	0					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CCGTCGCGCTCCTCCAGGCTG	0.657													16	32					1.99824e-07	2.05495e-07	1	0	A	13910431	C	A	13910431	3	1	159	1	0	0	0	0	1	0	0	0	11759	855	30	2	133	2	PDPN	1	13910431	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1738362	13910431	235340190	4	28519											
PRDM2	7799	broad.mit.edu	37	chr1	14068548	14068548	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcattgatgccactgatccaGagaagggaaactggctgcga	12	7	13	9	1	0	3	0	2	0	1	1	6	1	4	2	2	3	2	2	2	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:14068548G>C	ENST00000235372.7	+	5	1136	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	PRDM2_ENST00000376048.5_Missense_Mutation_p.E94Q|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000311066.5_Missense_Mutation_p.E94Q	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	94	SET.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CACTGATCCAGAGAAGGGAAA	0.368													22	47					0	0	0	0	C	14068548	G	C	14068548	3	2	159	1	0	0	0	0	1	0	0	0	12538	943	33	2	294	2	PRDM2	1	14068548	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	158117	14068548	235182073	5	28520											
SPEN	23013	broad.mit.edu	37	chr1	16258439	16258439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagccgaacaaggcgcCggaatgtaaggagcgtctat	11	7	12	11	4	2	0	1	0	2	0	3	3	2	2	2	3	3	1	2	3	5	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:16258439C>T	ENST00000375759.3	+	11	5908	c.5704C>T	c.(5704-5706)Cgg>Tgg	p.R1902W		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1902					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AACAAGGCGCCGGAATGTAAG	0.502													32	87					0	0	0	0	T	16258439	C	T	16258439	3	4	159	1	0	0	0	0	1	0	0	0	15128	643	23	1	5746	1	SPEN	1	16258439	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2189891	16258439	232992182	6	28521											
UBXN10	127733	broad.mit.edu	37	chr1	20517146	20517146	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatttggcagccaaactCactaaatatgcacatgataa	15	10	5	11	0	2	1	2	1	0	0	2	1	2	1	2	1	3	2	2	1	5	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:20517146C>A	ENST00000375099.3	+	2	176	c.92C>A	c.(91-93)tCa>tAa	p.S31*		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	31										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CAGCCAAACTCACTAAATATG	0.522													37	87					9.04072e-19	9.75321e-19	1	0	A	20517146	C	A	20517146	4	1	159	1	0	0	0	0	0	1	0	0	17008	838	29	2	94	2	UBXN10	1	20517146	Nonsense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	4258707	20517146	228733475	7	28522											
RAP1GAP	5909	broad.mit.edu	37	chr1	21928211	21928211	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcatctctggggagctctGagtggatgagttctccgact	6	11	15	9	1	3	2	0	2	3	0	5	5	3	4	1	4	1	3	1	4	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:21928211G>C	ENST00000542643.2	-	22	1998	c.1696C>G	c.(1696-1698)Cag>Gag	p.Q566E	RAP1GAP_ENST00000374765.4_Missense_Mutation_p.Q540E|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.Q571E|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.Q604E|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.Q625E	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	540					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGGGAGCTCTGAGTGGATGAG	0.667													10	36					0	0	0	0	C	21928211	G	C	21928211	3	2	159	1	0	0	0	0	1	0	0	0	13119	1299	45	2	393	2	RAP1GAP	1	21928211	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1411065	21928211	227322410	8	28523											
USP48	84196	broad.mit.edu	37	chr1	22056206	22056206	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgctttacctggaacttGaacagtagtgttgggctttt	9	15	10	7	0	0	1	0	1	0	0	0	2	0	2	1	2	5	4	1	2	5	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:22056206G>A	ENST00000308271.9	-	10	1939	c.1291C>T	c.(1291-1293)Caa>Taa	p.Q431*	USP48_ENST00000421625.2_Nonsense_Mutation_p.Q431*|USP48_ENST00000400301.1_Nonsense_Mutation_p.Q431*|USP48_ENST00000529637.1_Nonsense_Mutation_p.Q430*	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	431					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CCTGGAACTTGAACAGTAGTG	0.373													20	85					0	0	0	0	A	22056206	G	A	22056206	4	1	159	1	0	0	0	0	0	1	0	0	17175	1299	45	2	1896	2	USP48	1	22056206	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	127995	22056206	227194415	9	28524											
FGR	2268	broad.mit.edu	37	chr1	27948071	27948071	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccccaatccctacttactCttcagcttggattgagtcaa	9	13	6	13	0	3	1	2	1	1	0	4	2	4	2	3	1	4	1	3	1	4	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:27948071C>T	ENST00000374005.3	-	5	715	c.428_splice	c.e5+1	p.E143_splice	FGR_ENST00000545953.1_Intron|FGR_ENST00000399173.1_Splice_Site_p.E143_splice|FGR_ENST00000374004.1_Splice_Site_p.E143_splice	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	143					platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCTACTTACTCTTCAGCTTGG	0.567													10	48					0	0	0	0	T	27948071	C	T	27948071	5	4	159	1	0	0	0	0	0	0	1	0	5919	927	32	2	1198	2	FGR	1	27948071	Splice_Site	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5891865	27948071	221302550	10	28525											
KIAA1522	57648	broad.mit.edu	37	chr1	33237349	33237349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatgtggccaagctccctCagaaggaaccggtgggctgt	8	7	15	11	1	1	1	1	0	0	1	2	2	2	2	3	5	2	3	3	5	3	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:33237349C>G	ENST00000401073.2	+	6	2639	c.2569C>G	c.(2569-2571)Cag>Gag	p.Q857E	KIAA1522_ENST00000373480.1_Missense_Mutation_p.Q798E|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.Q809E	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	798	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAAGCTCCCTCAGAAGGAACC	0.682													11	31					0	0	0	0	G	33237349	C	G	33237349	3	3	159	1	0	0	0	0	1	0	0	0	8289	827	29	2	2591	2	KIAA1522	1	33237349	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5289278	33237349	216013272	11	28526											
EPHA10	284656	broad.mit.edu	37	chr1	38197201	38197201	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccggcttcaggttggtgacGgtgactgtgggcgcccctgt	3	10	17	11	3	1	2	1	2	0	0	1	2	1	2	3	5	0	2	3	5	0	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:38197201G>A	ENST00000373048.4	-	7	1544	c.1545C>T	c.(1543-1545)acC>acT	p.T515T	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Silent_p.T10T|EPHA10_ENST00000330210.7_Silent_p.T10T|EPHA10_ENST00000427468.2_Silent_p.T515T	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	515	Fibronectin type-III 2.					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)				GGTTGGTGACGGTGACTGTGG	0.597													4	213					0	0	0	0	A	38197201	G	A	38197201	2	1	159	1	0	0	0	0	0	0	0	1	5204	1103	39	1		1	EPHA10	1	38197201	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	4959852	38197201	211053420	12	28527											
SLC6A9	6536	broad.mit.edu	37	chr1	44474213	44474213	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgtgcgtcatggacgagaaGaagtagtagaaggcgatgca	14	6	15	6	4	1	3	1	0	0	3	1	6	1	4	0	2	2	3	0	2	5	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:44474213G>C	ENST00000372310.3	-	5	567	c.402C>G	c.(400-402)ttC>ttG	p.F134L	SLC6A9_ENST00000372307.3_Missense_Mutation_p.F69L|SLC6A9_ENST00000475075.2_Missense_Mutation_p.F23L|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000360584.2_Missense_Mutation_p.F207L|SLC6A9_ENST00000537678.1_Missense_Mutation_p.F69L|SLC6A9_ENST00000372306.3_Missense_Mutation_p.F134L|SLC6A9_ENST00000357730.2_Missense_Mutation_p.F153L	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	207						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGGACGAGAAGAAGTAGTAGA	0.567													20	59					0	0	0	0	C	44474213	G	C	44474213	3	2	159	1	0	0	0	0	1	0	0	0	14779	933	33	2	1539	2	SLC6A9	1	44474213	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	6277012	44474213	204776408	13	28528											
ZSWIM5	57643	broad.mit.edu	37	chr1	45500032	45500032	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagttcacactgctgtgattCcaagtgtccaagcgtgaacc	10	10	9	12	1	1	2	1	2	0	0	3	2	3	2	3	0	3	2	3	0	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:45500032C>G	ENST00000359600.5	-	11	2606	c.2401G>C	c.(2401-2403)Gaa>Caa	p.E801Q		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	801							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGCTGTGATTCCAAGTGTCCA	0.547													59	137					0	0	0	0	G	45500032	C	G	45500032	3	3	159	1	0	0	0	0	1	0	0	0	18335	864	30	2	1172	2	ZSWIM5	1	45500032	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1025819	45500032	203750589	14	28529											
ECHDC2	55268	broad.mit.edu	37	chr1	53377416	53377416	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgacgaagacattcccCaaggcattgcgggcagaagg	12	6	12	11	2	1	3	1	1	0	2	2	4	2	3	2	3	1	2	2	3	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:53377416C>T	ENST00000536120.1	-	5	847	c.30G>A	c.(28-30)ttG>ttA	p.L10L	ECHDC2_ENST00000371522.4_Silent_p.L56L|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000541281.1_Silent_p.L10L|ECHDC2_ENST00000358358.5_Silent_p.L56L			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	56					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						AGACATTCCCCAAGGCATTGC	0.577													22	62					0	0	0	0	T	53377416	C	T	53377416	2	4	159	1	0	0	0	0	0	0	0	1	4930	593	21	4		4	ECHDC2	1	53377416	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	7877384	53377416	195873205	15	28530											
C8A	731	broad.mit.edu	37	chr1	57320617	57320617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttgtctttgatgacttgtCagcctggggtaactgcacag	7	14	11	9	0	3	2	1	2	2	0	3	2	3	2	1	2	3	2	1	2	1	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:57320617C>G	ENST00000361249.3	+	1	139	c.43C>G	c.(43-45)Cag>Gag	p.Q15E		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	15					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GATGACTTGTCAGCCTGGGGT	0.453													5	23					0	0	0	0	G	57320617	C	G	57320617	3	3	159	1	0	0	0	0	1	0	0	0	2439	827	29	2	45	2	C8A	1	57320617	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	3943201	57320617	191930004	16	28531											
USP1	7398	broad.mit.edu	37	chr1	62910855	62910855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaccctcacaaaagaaatCaagagttaaaataaattggt	21	8	6	6	0	2	3	2	0	0	3	2	3	2	3	1	1	0	1	1	1	9	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:62910855C>T	ENST00000339950.4	+	6	1819	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	USP1_ENST00000371146.1_Missense_Mutation_p.S335L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	335					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		CAAAAGAAATCAAGAGTTAAA	0.328													15	63					0	0	0	0	T	62910855	C	T	62910855	3	4	159	1	0	0	0	0	1	0	0	0	17136	838	29	2	1022	2	USP1	1	62910855	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5590238	62910855	186339766	17	28532											
VCAM1	7412	broad.mit.edu	37	chr1	101198225	101198225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagaagcagaaaggaagtgGaattaattatccaaggtgag	18	7	13	3	0	0	3	0	1	0	2	1	6	1	5	1	3	1	1	1	3	8	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:101198225G>A	ENST00000294728.2	+	7	1878	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	VCAM1_ENST00000347652.2_Missense_Mutation_p.E501K|VCAM1_ENST00000370119.4_Missense_Mutation_p.E531K|VCAM1_ENST00000370115.1_Missense_Mutation_p.E394K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	593	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AAAGGAAGTGGAATTAATTAT	0.348													32	106					0	0	0	0	A	101198225	G	A	101198225	3	1	159	1	0	0	0	0	1	0	0	0	17233	1175	41	2	1803	2	VCAM1	1	101198225	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	38287370	101198225	148052396	18	28533											
SLC30A7	148867	broad.mit.edu	37	chr1	101377785	101377785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggaggtcatggacattctCatggctctggtatgatggtt	8	14	13	6	0	3	1	2	1	2	0	4	3	3	3	0	6	0	3	0	6	1	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:101377785C>T	ENST00000370112.4	+	5	689	c.502C>T	c.(502-504)Cat>Tat	p.H168Y	SLC30A7_ENST00000357650.4_Missense_Mutation_p.H168Y	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	168	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TGGACATTCTCATGGCTCTGG	0.353													51	123					0	0	0	0	T	101377785	C	T	101377785	3	4	159	1	0	0	0	0	1	0	0	0	14648	826	29	2	520	2	SLC30A7	1	101377785	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	179560	101377785	147872836	19	28534											
GNAT2	2780	broad.mit.edu	37	chr1	110152749	110152749	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagcacatttccatagatGatagccttgaactccaggca	12	10	8	11	0	0	3	0	2	0	1	2	3	2	3	3	1	4	3	3	1	3	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:110152749G>A	ENST00000351050.3	-	3	402	c.216C>T	c.(214-216)atC>atT	p.I72I		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	72					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTCCATAGATGATAGCCTTGA	0.502													41	124					0	0	0	0	A	110152749	G	A	110152749	2	1	159	1	0	0	0	0	0	0	0	1	6563	1280	45	2		2	GNAT2	1	110152749	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	8774964	110152749	139097872	20	28535											
GSTM3	2947	broad.mit.edu	37	chr1	110279755	110279755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcatcttgcagaactGatcagactgtaagtaggcag	12	9	13	7	0	2	3	1	1	1	2	2	4	2	3	0	2	2	5	0	2	3	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:110279755G>T	ENST00000540225.1	-	9	926	c.616C>A	c.(616-618)Cag>Aag	p.Q206K	GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000256594.3_Missense_Mutation_p.Q206K|RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Missense_Mutation_p.Q206K			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	206	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TTGCAGAACTGATCAGACTGT	0.473													8	50					0.307466	0.307466	1	0	T	110279755	G	T	110279755	3	4	159	1	0	0	0	0	1	0	0	0	6889	1299	45	2	65	2	GSTM3	1	110279755	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	127006	110279755	138970866	21	28536											
MAGI3	260425	broad.mit.edu	37	chr1	114201756	114201756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtccggctgaccgctgtgGaaaactgaaagttggagatc	12	8	13	8	2	0	3	0	2	0	1	2	5	1	4	2	3	1	3	2	3	4	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:114201756G>A	ENST00000369615.1	+	16	2746	c.2684G>A	c.(2683-2685)gGa>gAa	p.G895E	MAGI3_ENST00000369617.4_Missense_Mutation_p.G920E|MAGI3_ENST00000307546.9_Missense_Mutation_p.G895E|MAGI3_ENST00000369611.4_Missense_Mutation_p.G895E	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	920	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACCGCTGTGGAAAACTGAAA	0.408													32	76					0	0	0	0	A	114201756	G	A	114201756	3	1	159	1	0	0	0	0	1	0	0	0	9261	1174	41	2	2746	2	MAGI3	1	114201756	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3922001	114201756	135048865	22	28537											
VTCN1	79679	broad.mit.edu	37	chr1	117699237	117699237	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcattccccttgcctttaGaagtgatgatataacatttg	11	15	7	8	0	0	3	0	2	0	1	1	3	1	3	3	0	3	1	3	0	5	8			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:117699237G>C	ENST00000369458.3	-	3	482	c.404C>G	c.(403-405)tCt>tGt	p.S135C	VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000359008.4_Missense_Mutation_p.S138C|VTCN1_ENST00000539893.1_Missense_Mutation_p.S40C|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	135	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CTTGCCTTTAGAAGTGATGAT	0.403													17	69					0	0	0	0	C	117699237	G	C	117699237	3	2	159	1	0	0	0	0	1	0	0	0	17330	942	33	2	456	2	VTCN1	1	117699237	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3497481	117699237	131551384	23	28538											
RPRD2	23248	broad.mit.edu	37	chr1	150432736	150432736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgccaaacctggctaatgtgGatctggcaaagatcagttcc	11	10	10	10	0	2	1	1	0	1	1	3	2	3	2	3	3	2	3	3	3	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:150432736G>A	ENST00000401000.4	+	8	1341	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	RPRD2_ENST00000369068.4_Missense_Mutation_p.D452N|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.D426N			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	452							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGCTAATGTGGATCTGGCAAA	0.438													9	22					0	0	0	0	A	150432736	G	A	150432736	3	1	159	1	0	0	0	0	1	0	0	0	13702	1174	41	2	1388	2	RPRD2	1	150432736	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	32733499	150432736	98817885	24	28539											
TDRKH	11022	broad.mit.edu	37	chr1	151754022	151754022	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctggggaacccgcatctCtatctcaatgtcatcttccc	7	12	6	16	1	4	0	2	0	3	0	8	1	6	1	3	2	1	1	3	2	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:151754022C>G	ENST00000368822.1	-	3	799	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	TDRKH_ENST00000458431.2_Missense_Mutation_p.E56Q|TDRKH_ENST00000368823.1_Missense_Mutation_p.E56Q|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Missense_Mutation_p.E56Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E56Q|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368827.6_Missense_Mutation_p.E56Q			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	56	KH 1.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCGCATCTCTATCTCAATG	0.463													18	65					0	0	0	0	G	151754022	C	G	151754022	3	3	159	1	0	0	0	0	1	0	0	0	15831	922	32	2	1563	2	TDRKH	1	151754022	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1321286	151754022	97496599	25	28540											
ASH1L	55870	broad.mit.edu	37	chr1	155309120	155309120	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccccatgggacttaccGtcctccattcctcttgtagt	6	13	6	16	1	1	0	0	0	1	0	5	1	5	1	7	1	1	1	7	1	2	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:155309120G>A	ENST00000368346.3	-	26	9154	c.8516_splice	c.e26+1	p.R2839_splice	ASH1L_ENST00000392403.3_Splice_Site_p.R2834_splice			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2839					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGGACTTACCGTCCTCCATTC	0.468													4	106					0	0	0	0	A	155309120	G	A	155309120	5	1	159	1	0	0	0	0	0	0	1	0	1045	1159	40	1	406	1	ASH1L	1	155309120	Splice_Site	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3555098	155309120	93941501	26	28541											
DARC	2532	broad.mit.edu	37	chr1	159175410	159175410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaacctgctggatgactctGcactgcccttcttcatcctc	6	13	7	15	0	3	1	1	1	2	0	5	2	4	2	3	1	4	3	3	1	1	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:159175410G>T	ENST00000537147.1	+	3	1024	c.181G>T	c.(181-183)Gca>Tca	p.A61S	DARC_ENST00000368121.2_Missense_Mutation_p.A63S|DARC_ENST00000368122.2_Missense_Mutation_p.A61S			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	61					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGATGACTCTGCACTGCCCTT	0.547													28	67					8.24728e-16	8.83535e-16	1	0	T	159175410	G	T	159175410	3	4	159	1	0	0	0	0	1	0	0	0	4273	1319	46	4	214	4	DARC	1	159175410	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3866290	159175410	90075211	27	28542											
RC3H1	149041	broad.mit.edu	37	chr1	173952772	173952772	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcgactcagaacactctGagtagtgctgttcagaccca	10	9	11	11	1	3	3	2	1	1	2	3	4	3	3	1	1	2	3	1	1	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:173952772G>C	ENST00000367696.2	-	4	727	c.376C>G	c.(376-378)Cag>Gag	p.Q126E	RC3H1_ENST00000258349.4_Missense_Mutation_p.Q126E|RC3H1_ENST00000367694.2_Missense_Mutation_p.Q126E			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	126					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGAACACTCTGAGTAGTGCTG	0.458													18	64					0	0	0	0	C	173952772	G	C	173952772	3	2	159	1	0	0	0	0	1	0	0	0	13248	1299	45	2	3093	2	RC3H1	1	173952772	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	14777362	173952772	75297849	28	28543											
SOAT1	6646	broad.mit.edu	37	chr1	179319497	179319497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtatctgctgtagtacacGaatatgccttggctgtttgc	7	15	10	9	1	1	0	0	0	1	0	1	1	1	0	1	1	4	6	1	1	5	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:179319497G>A	ENST00000367619.3	+	14	1524	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	SOAT1_ENST00000535686.1_Missense_Mutation_p.E197K|SOAT1_ENST00000539888.1_Missense_Mutation_p.E396K|SOAT1_ENST00000540564.1_Missense_Mutation_p.E403K	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	461					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TGTAGTACACGAATATGCCTT	0.398													15	38					0	0	0	0	A	179319497	G	A	179319497	3	1	159	1	0	0	0	0	1	0	0	0	14998	1059	37	1	1431	1	SOAT1	1	179319497	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	5366725	179319497	69931124	29	28544											
PDC	5132	broad.mit.edu	37	chr1	186418543	186418543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcttgcctgtatgtgtggCctgtccttcaaagtcttcct	4	17	9	11	0	2	0	1	0	1	0	4	0	4	0	4	1	2	2	4	1	2	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:186418543C>T	ENST00000391997.2	-	2	136	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	PDC_ENST00000340129.5_Missense_Mutation_p.A17T	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	17					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		GTATGTGTGGCCTGTCCTTCA	0.313													22	42					0	0	0	0	T	186418543	C	T	186418543	3	4	159	1	0	0	0	0	1	0	0	0	11685	739	26	4	703	4	PDC	1	186418543	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	7099046	186418543	62832078	30	28545											
ASPM	259266	broad.mit.edu	37	chr1	197071384	197071384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtagcagccctgtgcatctCtcgcatccttttccttatca	7	14	6	14	1	2	0	1	0	1	0	6	0	4	0	3	0	3	4	3	0	2	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:197071384C>T	ENST00000367409.4	-	18	7253	c.6997G>A	c.(6997-6999)Gag>Aag	p.E2333K	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2333	IQ 22.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGTGCATCTCTCGCATCCTT	0.403													10	110					0	0	0	0	T	197071384	C	T	197071384	3	4	159	1	0	0	0	0	1	0	0	0	1060	922	32	2	3480	2	ASPM	1	197071384	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	10652841	197071384	52179237	31	28546											
ELK4	2005	broad.mit.edu	37	chr1	205589294	205589294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctccagtgacaaattctCtggaagttccattggctgag	10	11	11	9	0	1	2	0	2	1	0	4	3	3	3	2	3	0	3	2	3	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:205589294C>T	ENST00000357992.4	-	3	1219	c.880G>A	c.(880-882)Gag>Aag	p.E294K	ELK4_ENST00000289703.4_Missense_Mutation_p.E294K	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GACAAATTCTCTGGAAGTTCC	0.443			T	SLC45A3	prostate								56	134					0	0	0	0	T	205589294	C	T	205589294	3	4	159	1	0	0	0	0	1	0	0	0	5099	922	32	2	565	2	ELK4	1	205589294	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	8517910	205589294	43661327	32	28547											
SLC45A3	85414	broad.mit.edu	37	chr1	205632625	205632625	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgggatgagaaagaggctCagcaggatgcccaaggacag	13	5	15	8	0	1	2	1	1	0	2	1	6	1	5	1	4	2	2	1	4	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:205632625C>T	ENST00000367145.3	-	3	589	c.294G>A	c.(292-294)ctG>ctA	p.L98L		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	98					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GAAAGAGGCTCAGCAGGATGC	0.677			T	"ETV1, ETV5, ELK4, ERG"	prostate								13	42					0	0	0	0	T	205632625	C	T	205632625	2	4	159	1	0	0	0	0	0	0	0	1	14730	813	29	2		2	SLC45A3	1	205632625	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	43331	205632625	43617996	33	28548											
NUCKS1	64710	broad.mit.edu	37	chr1	205689659	205689659	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgcctcatcctcctcttCttgttcttcctcactgccca	3	16	5	17	0	5	0	2	0	3	0	8	0	8	0	5	1	2	1	5	1	0	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:205689659C>G	ENST00000367142.4	-	5	654	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	118						nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCTCCTCTTCTTGTTCTTCC	0.443													34	79					0	0	0	0	G	205689659	C	G	205689659	3	3	159	1	0	0	0	0	1	0	0	0	10791	922	32	2	391	2	NUCKS1	1	205689659	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	57034	205689659	43560962	34	28549											
CR1	1378	broad.mit.edu	37	chr1	207793300	207793300	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaaaaaagtatatcactatgGagattatgtgactttgaagt	16	13	9	3	0	1	3	1	2	0	1	1	5	1	3	0	1	0	1	0	1	8	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:207793300G>C	ENST00000367049.4	+	43	7142	c.7142G>C	c.(7141-7143)gGa>gCa	p.G2381A	CR1_ENST00000367051.1_Missense_Mutation_p.G1931A|CR1_ENST00000367053.1_Missense_Mutation_p.G1931A|CR1_ENST00000400960.2_Missense_Mutation_p.G1931A|CR1_ENST00000367052.1_Missense_Mutation_p.G1931A	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1931					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TATCACTATGGAGATTATGTG	0.423													5	21					0	0	0	0	C	207793300	G	C	207793300	3	2	159	1	0	0	0	0	1	0	0	0	3870	1174	41	2	7312	2	CR1	1	207793300	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	2103641	207793300	41457321	35	28550											
PTPN14	5784	broad.mit.edu	37	chr1	214557145	214557145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagggagctgggggacctCgtggctgcctgacccctcct	4	8	15	14	1	0	2	0	2	0	0	2	4	1	4	5	4	2	2	5	4	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:214557145C>T	ENST00000366956.5	-	13	2247	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	685					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGGGGACCTCGTGGCTGCCT	0.642													15	61					0	0	0	0	T	214557145	C	T	214557145	3	4	159	1	0	0	0	0	1	0	0	0	12863	893	31	1	1538	1	PTPN14	1	214557145	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	6763845	214557145	34693476	36	28551											
CHRM3	1131	broad.mit.edu	37	chr1	240072045	240072045	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagcttcccatccagctaGagtcagccgtggacacagct	10	7	9	15	1	1	1	1	0	0	1	3	2	3	2	4	1	4	3	4	1	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:240072045G>C	ENST00000255380.4	+	5	2073	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	432					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CATCCAGCTAGAGTCAGCCGT	0.552													8	23					0	0	0	0	C	240072045	G	C	240072045	3	2	159	1	0	0	0	0	1	0	0	0	3407	943	33	2	1296	2	CHRM3	1	240072045	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	25514900	240072045	9178576	37	28552											
OR2T1	26696	broad.mit.edu	37	chr1	248570303	248570303	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attctcacacccatgctgaaCcccctcatctacagccttag	10	10	4	17	0	3	1	2	1	2	0	4	1	3	1	4	0	4	1	4	0	3	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:248570303C>T	ENST00000366474.1	+	1	1008	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	336					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATGCTGAACCCCCTCATCT	0.522													61	140					0	0	0	0	T	248570303	C	T	248570303	2	4	159	1	0	0	0	0	0	0	0	1	11087	506	18	4		4	OR2T1	1	248570303	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	8498258	248570303	680318	38	28553											
ODC1	4953	broad.mit.edu	37	chr2	10583894	10583894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctgctggttctgagcGtggcaccgaatttcacactg	7	10	13	11	2	2	1	1	1	1	0	2	3	2	2	2	3	3	3	2	3	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:10583894G>A	ENST00000234111.4	-	6	1028	c.518C>T	c.(517-519)aCg>aTg	p.T173M	ODC1_ENST00000405333.1_Missense_Mutation_p.T173M	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	173					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	GGTTCTGAGCGTGGCACCGAA	0.483													36	95					0	0	0	0	A	10583894	G	A	10583894	3	1	159	1	0	0	0	0	1	0	0	0	10896	1145	40	1	895	1	ODC1	2	10583894	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08		10583894	232615479	39	28554											
DPYSL5	56896	broad.mit.edu	37	chr2	27121556	27121556	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtgatccctggtggcatCgacaccagcacccacttcca	8	8	9	16	1	0	1	0	1	0	0	3	2	2	1	4	3	1	2	4	3	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:27121556C>T	ENST00000288699.6	+	2	347	c.189C>T	c.(187-189)atC>atT	p.I63I	DPYSL5_ENST00000401478.1_Silent_p.I63I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	63					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTGGCATCGACACCAGCA	0.572													25	39					0	0	0	0	T	27121556	C	T	27121556	2	4	159	1	0	0	0	0	0	0	0	1	4786	874	31	1		1	DPYSL5	2	27121556	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	16537662	27121556	216077817	40	28555											
NLRC4	58484	broad.mit.edu	37	chr2	32463255	32463255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagactaattgaatttcttCaaggtcacagggttcacttg	11	13	10	7	0	4	2	3	1	1	1	4	3	4	2	0	3	0	1	0	3	3	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:32463255C>T	ENST00000404025.2	-	7	2955	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	NLRC4_ENST00000342905.6_Missense_Mutation_p.E158K|NLRC4_ENST00000402280.1_Missense_Mutation_p.E823K|NLRC4_ENST00000360906.5_Missense_Mutation_p.E823K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	823					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAATTTCTTCAAGGTCACAG	0.403													46	90					0	0	0	0	T	32463255	C	T	32463255	3	4	159	1	0	0	0	0	1	0	0	0	10539	835	29	2	623	2	NLRC4	2	32463255	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5341699	32463255	210736118	41	28556											
BIRC6	57448	broad.mit.edu	37	chr2	32728184	32728184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgcaagaagtatggtatCaactattatgaaatttcttg	14	14	7	6	0	2	2	1	1	1	1	2	2	2	2	0	1	2	3	0	1	8	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:32728184C>T	ENST00000421745.2	+	49	9514	c.9380C>T	c.(9379-9381)tCa>tTa	p.S3127L		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3127					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGTATGGTATCAACTATTATG	0.353													9	14					0	0	0	0	T	32728184	C	T	32728184	3	4	159	1	0	0	0	0	1	0	0	0	1443	838	29	2	9574	2	BIRC6	2	32728184	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	264929	32728184	210471189	42	28557											
MAP4K3	8491	broad.mit.edu	37	chr2	39564678	39564678	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatttacctgcagtgtttCtctgctaacatatgcaattt	9	18	6	8	0	1	1	0	1	1	0	2	1	1	1	1	0	5	4	1	0	4	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:39564678C>G	ENST00000263881.3	-	5	679	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	MAP4K3_ENST00000437545.1_Missense_Mutation_p.E56Q|MAP4K3_ENST00000341681.5_Missense_Mutation_p.E119Q	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	119	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGCAGTGTTTCTCTGCTAACA	0.318													8	34					0	0	0	0	G	39564678	C	G	39564678	3	3	159	1	0	0	0	0	1	0	0	0	9330	922	32	2	2449	2	MAP4K3	2	39564678	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	6836494	39564678	203634695	43	28558											
EPAS1	2034	broad.mit.edu	37	chr2	46587818	46587818	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagacatgtccacagagCgggacttcttcatgaggatg	12	8	12	9	1	2	3	1	1	1	2	3	5	3	5	1	2	1	1	1	2	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:46587818C>A	ENST00000263734.3	+	5	1006	c.496C>A	c.(496-498)Cgg>Agg	p.R166R		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	166					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTCCACAGAGCGGGACTTCTT	0.498													25	49					1.85244e-09	1.93407e-09	1	0	A	46587818	C	A	46587818	2	1	159	1	0	0	0	0	0	0	0	1	5188	759	27	3		3	EPAS1	2	46587818	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	7023140	46587818	196611555	44	28559											
NRXN1	9378	broad.mit.edu	37	chr2	50318532	50318532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccactcctcgtgaaaCgaactacatggtatttccca	11	10	6	14	2	0	1	0	1	0	0	3	2	2	1	4	1	4	1	4	1	4	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:50318532C>T	ENST00000404971.1	-	20	5106	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	NRXN1_ENST00000406316.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1216H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000401710.1_Missense_Mutation_p.R234H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000342183.5_Missense_Mutation_p.R181H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1216H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1216	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R1257H(1)|p.R181H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCTCGTGAAACGAACTACATG	0.473													42	140					0	0	0	0	T	50318532	C	T	50318532	3	4	159	1	0	0	0	0	1	0	0	0	10736	536	19	1	896	1	NRXN1	2	50318532	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	3730714	50318532	192880841	45	28560											
SPTBN1	6711	broad.mit.edu	37	chr2	54856156	54856156	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttgccagctggcggctGagcgcagggcccgtctggaa	6	7	16	12	3	1	1	0	1	1	0	1	2	1	2	2	4	4	4	2	4	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:54856156G>T	ENST00000333896.5	+	13	2231	c.1846G>T	c.(1846-1848)Gag>Tag	p.E616*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.E629*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	629					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCTGGCGGCTGAGCGCAGGGC	0.577													47	123					2.46787e-29	2.71466e-29	1	0	T	54856156	G	T	54856156	4	4	159	1	0	0	0	0	0	1	0	0	15209	1291	45	2	2048	2	SPTBN1	2	54856156	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	4537624	54856156	188343217	46	28561											
REL	5966	broad.mit.edu	37	chr2	61149497	61149497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcacaatcagatgcatttGagggatctgacttcagttgt	10	15	9	7	0	4	3	3	2	1	1	4	4	4	4	0	1	1	2	0	1	1	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:61149497G>C	ENST00000295025.7	+	11	2007	c.1687G>C	c.(1687-1689)Gag>Cag	p.E563Q	REL_ENST00000394479.3_Missense_Mutation_p.E531Q	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	563					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGATGCATTTGAGGGATCTGA	0.423			A		Hodgkin Lymphoma								38	78					0	0	0	0	C	61149497	G	C	61149497	3	2	159	1	0	0	0	0	1	0	0	0	13297	1291	45	2	1729	2	REL	2	61149497	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	6293341	61149497	182049876	47	28562											
USP34	9736	broad.mit.edu	37	chr2	61441396	61441396	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtaattgaaggcaatgttCttggttaccactgggttctg	9	15	11	6	0	2	1	0	1	2	0	2	1	2	1	1	3	1	5	1	3	4	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:61441396C>G	ENST00000398571.2	-	68	8557	c.8481G>C	c.(8479-8481)aaG>aaC	p.K2827N	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2827					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGGCAATGTTCTTGGTTACCA	0.443													54	128					0	0	0	0	G	61441396	C	G	61441396	3	3	159	1	0	0	0	0	1	0	0	0	17161	912	32	2	2211	2	USP34	2	61441396	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	291899	61441396	181757977	48	28563											
USP34	9736	broad.mit.edu	37	chr2	61492647	61492647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaaatctacattcagcaCggacatcttcatgaggccag	14	8	7	12	1	4	1	2	1	2	0	4	2	4	2	1	2	3	1	1	2	3	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:61492647C>T	ENST00000398571.2	-	43	5739	c.5663G>A	c.(5662-5664)cGt>cAt	p.R1888H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1888					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R1888H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACATTCAGCACGGACATCTTC	0.428													30	106					0	0	0	0	T	61492647	C	T	61492647	3	4	159	1	0	0	0	0	1	0	0	0	17161	536	19	1	5129	1	USP34	2	61492647	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	51251	61492647	181706726	49	28564											
PNO1	56902	broad.mit.edu	37	chr2	68385190	68385190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgcagcaggagagggcGgggatgcgggccgcatggac	7	4	20	10	4	0	1	0	0	0	1	1	4	1	3	2	6	2	3	2	6	0	0	rs61735656	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:68385190G>A	ENST00000263657.2	+	1	215	c.124G>A	c.(124-126)Ggg>Agg	p.G42R		NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	42						nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						AGGAGAGGGCGGGGATGCGGG	0.692													10	35					0	0	0	0	A	68385190	G	A	68385190	3	1	159	1	0	0	0	0	1	0	0	0	12233	1116	39	1	126	1	PNO1	2	68385190	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	6892543	68385190	174814183	50	28565											
C2orf78	388960	broad.mit.edu	37	chr2	74043451	74043451	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagatggtagtgctgaaaaaGagtgtacatctccatcccac	13	10	9	9	0	1	3	0	1	1	2	3	3	2	3	2	1	2	3	2	1	5	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:74043451G>C	ENST00000409561.1	+	3	2222	c.2101G>C	c.(2101-2103)Gag>Cag	p.E701Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	701								p.E701Q(1)|p.E671Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGCTGAAAAAGAGTGTACATC	0.493													27	103					0	0	0	0	C	74043451	G	C	74043451	3	2	159	1	0	0	0	0	1	0	0	0	2215	943	33	2	2111	2	C2orf78	2	74043451	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	5658261	74043451	169155922	51	28566											
LRRTM1	347730	broad.mit.edu	37	chr2	80529877	80529877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtggaaggcgtacacGgcgtccaggacgtcctcgcc	8	5	14	14	5	0	0	0	0	0	0	3	2	2	2	3	5	1	1	3	5	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:80529877G>A	ENST00000295057.3	-	2	1724	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	LRRTM1_ENST00000409148.1_Silent_p.A356A|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	356	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGGCGTACACGGCGTCCAGGA	0.682										HNSCC(69;0.2)			6	28					0	0	0	0	A	80529877	G	A	80529877	2	1	159	1	0	0	0	0	0	0	0	1	9103	1103	39	1		1	LRRTM1	2	80529877	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	6486426	80529877	162669496	52	28567											
KDM3A	55818	broad.mit.edu	37	chr2	86705816	86705816	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttgttcaaacaggcaattCaaactcttttcaaagccagc	13	11	5	12	0	4	0	3	0	1	0	4	0	4	0	2	1	4	2	2	1	4	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:86705816C>G	ENST00000409556.1	+	16	2639	c.2274C>G	c.(2272-2274)ttC>ttG	p.F758L	KDM3A_ENST00000409064.1_Missense_Mutation_p.F758L|KDM3A_ENST00000542128.1_Missense_Mutation_p.F706L|KDM3A_ENST00000312912.5_Missense_Mutation_p.F758L			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	758					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ACAGGCAATTCAAACTCTTTT	0.378													11	51					0	0	0	0	G	86705816	C	G	86705816	3	3	159	1	0	0	0	0	1	0	0	0	8179	825	29	2	2328	2	KDM3A	2	86705816	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	6175939	86705816	156493557	53	28568											
C2orf15	150590	broad.mit.edu	37	chr2	99763938	99763938	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttcacccttcatgtcctCaactctggggaagttaaggt	8	14	9	10	0	4	0	3	0	1	0	5	1	5	1	2	3	1	2	2	3	3	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:99763938C>G	ENST00000302513.2	+	3	644	c.8C>G	c.(7-9)tCa>tGa	p.S3*	TSGA10_ENST00000393483.3_Intron|C2orf15_ENST00000409684.1_Nonsense_Mutation_p.S3*	NM_144706.2	NP_653307.1	Q8WU43	CB015_HUMAN	chromosome 2 open reading frame 15	3										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						TTCATGTCCTCAACTCTGGGG	0.403													18	61					0	0	0	0	G	99763938	C	G	99763938	4	3	159	1	0	0	0	0	0	1	0	0	2176	838	29	2	10	2	C2orf15	2	99763938	Nonsense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	13058122	99763938	143435435	54	28569											
RNF149	284996	broad.mit.edu	37	chr2	101893723	101893723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagatgggtcctccatgccGagagtcactcctgccggctt	6	9	13	13	2	1	2	1	0	0	2	4	4	4	2	5	3	2	1	5	3	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:101893723G>A	ENST00000295317.3	-	7	1287	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	394						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						CCTCCATGCCGAGAGTCACTC	0.468													10	24					0	0	0	0	A	101893723	G	A	101893723	3	1	159	1	0	0	0	0	1	0	0	0	13535	1057	37	1	26	1	RNF149	2	101893723	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	2129785	101893723	141305650	55	28570											
IL1RL2	8808	broad.mit.edu	37	chr2	102805746	102805746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccatggaatggggggactCaggagtctaccaatgtgtta	10	9	13	9	0	2	0	1	0	1	0	2	3	2	3	3	5	1	1	3	5	4	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:102805746C>T	ENST00000264257.2	+	3	395	c.269C>T	c.(268-270)tCa>tTa	p.S90L	IL1RL2_ENST00000539491.1_Missense_Mutation_p.S90L|IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	90	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGGGGGGACTCAGGAGTCTAC	0.343													9	22					0	0	0	0	T	102805746	C	T	102805746	3	4	159	1	0	0	0	0	1	0	0	0	7717	838	29	2	275	2	IL1RL2	2	102805746	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	912023	102805746	140393627	56	28571											
IL1RL1	9173	broad.mit.edu	37	chr2	102955360	102955360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctagacaaggaaaacCtagttacaccgtggattggt	13	10	10	8	1	0	1	0	0	0	1	1	3	1	3	3	3	2	1	3	3	6	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:102955360C>T	ENST00000311734.2	+	3	464	c.125C>T	c.(124-126)cCt>cTt	p.P42L	IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000409584.1_Missense_Mutation_p.P42L|IL1RL1_ENST00000233954.1_Missense_Mutation_p.P42L|IL1RL1_ENST00000393393.3_Missense_Mutation_p.P42L			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	42	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CAAGGAAAACCTAGTTACACC	0.378													34	106					0	0	0	0	T	102955360	C	T	102955360	3	4	159	1	0	0	0	0	1	0	0	0	7716	681	24	4	131	4	IL1RL1	2	102955360	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	149614	102955360	140244013	57	28572											
NEB	4703	broad.mit.edu	37	chr2	152394687	152394687	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtgactttgcgatgataGacaatgtctagggcatcttt	9	15	10	7	1	3	3	0	2	3	1	3	4	3	3	0	1	1	1	0	1	3	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:152394687G>C	ENST00000427231.2	-	139	21166	c.20964C>G	c.(20962-20964)gtC>gtG	p.V6988V	NEB_ENST00000172853.10_Silent_p.V5287V|NEB_ENST00000409198.1_Silent_p.V5287V|NEB_ENST00000603639.1_Silent_p.V6988V|NEB_ENST00000397345.3_Silent_p.V6988V|NEB_ENST00000604864.1_Silent_p.V6988V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5287					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCGATGATAGACAATGTCTA	0.353													30	100					0	0	0	0	C	152394687	G	C	152394687	2	2	159	1	0	0	0	0	0	0	0	1	10372	929	33	2		2	NEB	2	152394687	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	49439327	152394687	90804686	58	28573											
LY75	4065	broad.mit.edu	37	chr2	160709782	160709782	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggatttagaattaactttAccgataagccaagtcttggc	14	12	8	7	1	1	1	0	0	1	1	1	3	1	2	2	2	3	0	2	2	7	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:160709782A>G	ENST00000263636.4	-	20	2771		c.e20+1		LY75_ENST00000554112.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AATTAACTTTACCGATAAGCC	0.353													16	47					0	0	0	0	G	160709782	A	G	160709782	5	3	159	1	0	0	0	0	0	0	1	0	9164	405	14	5	2487	5	LY75	2	160709782	Splice_Site	SNP	A	TCGA-CQ-7071-01A-12D-A30E-08	8315095	160709782	82489591	59	28574											
LY75	4065	broad.mit.edu	37	chr2	160755537	160755537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcttgatgcacttgcccGtatttccatggacgatggtg	6	13	12	10	2	0	1	0	1	0	0	1	3	1	2	2	3	2	3	2	3	1	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:160755537G>A	ENST00000263636.4	-	2	155	c.128C>T	c.(127-129)aCg>aTg	p.T43M	LY75_ENST00000554112.1_Missense_Mutation_p.T43M|LY75_ENST00000553424.1_Missense_Mutation_p.T43M|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.T43M|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.T43M	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GCACTTGCCCGTATTTCCATG	0.502													4	159					0	0	0	0	A	160755537	G	A	160755537	3	1	159	1	0	0	0	0	1	0	0	0	9164	1145	40	1	5176	1	LY75	2	160755537	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	45755	160755537	82443836	60	28575											
SCN2A	6326	broad.mit.edu	37	chr2	166231294	166231294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtatcatgggagtgaatCtctttgctggcaagttttac	9	15	10	7	0	3	1	2	1	1	0	4	2	3	2	0	2	2	4	0	2	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:166231294C>T	ENST00000357398.3	+	22	4362	c.4072C>T	c.(4072-4074)Ctc>Ttc	p.L1358F	SCN2A_ENST00000375427.2_Missense_Mutation_p.L1358F|SCN2A_ENST00000375437.2_Missense_Mutation_p.L1358F|SCN2A_ENST00000283256.6_Missense_Mutation_p.L1358F			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1358					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGGAGTGAATCTCTTTGCTGG	0.388													31	64					0	0	0	0	T	166231294	C	T	166231294	3	4	159	1	0	0	0	0	1	0	0	0	14003	913	32	2	4250	2	SCN2A	2	166231294	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5475757	166231294	76968079	61	28576											
XIRP2	129446	broad.mit.edu	37	chr2	167760287	167760287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggccagaagtgctgaaggagGattccctgagcagtcggcgc	9	6	16	10	2	0	3	0	2	0	1	2	5	1	5	2	4	2	2	2	4	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:167760287G>C	ENST00000409195.1	+	2	384	c.295G>C	c.(295-297)Gat>Cat	p.D99H	XIRP2_ENST00000409043.1_Missense_Mutation_p.D99H|XIRP2_ENST00000420519.1_Missense_Mutation_p.D99H|XIRP2_ENST00000409756.2_Missense_Mutation_p.D99H|XIRP2_ENST00000409728.1_Missense_Mutation_p.D99H|XIRP2_ENST00000295237.9_Missense_Mutation_p.D99H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	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						GCTGAAGGAGGATTCCCTGAG	0.512													15	59					0	0	0	0	C	167760287	G	C	167760287	3	2	159	1	0	0	0	0	1	0	0	0	17526	1174	41	2	297	2	XIRP2	2	167760287	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1528993	167760287	75439086	62	28577											
NOSTRIN	115677	broad.mit.edu	37	chr2	169707858	169707858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatccaggctgtaatggaaGaaactgcaattttatctaca	15	12	7	7	0	1	1	0	0	1	1	2	2	2	2	1	2	3	3	1	2	7	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:169707858G>A	ENST00000444448.2	+	13	1446	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E267K|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E239K|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E324K|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E189K|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E239K|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E189K			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	267					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TGTAATGGAAGAAACTGCAAT	0.373													12	33					0	0	0	0	A	169707858	G	A	169707858	3	1	159	1	0	0	0	0	1	0	0	0	10616	943	33	2	1012	2	NOSTRIN	2	169707858	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1947571	169707858	73491515	63	28578											
TTN	7273	broad.mit.edu	37	chr2	179485937	179485937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggaccctctttttaccatCagcaataacgtcatatttat	12	15	4	10	1	3	0	2	0	1	0	3	1	3	1	2	1	3	1	2	1	6	8			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:179485937C>T	ENST00000589042.1	-	246	45732	c.45508G>A	c.(45508-45510)Gat>Aat	p.D15170N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D6105N|TTN_ENST00000359218.5_Missense_Mutation_p.D6230N|TTN_ENST00000342992.6_Missense_Mutation_p.D12602N|TTN_ENST00000342175.6_Missense_Mutation_p.D6297N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D13529N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13529	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)			TTTTTACCATCAGCAATAACG	0.443													17	33					0	0	0	0	T	179485937	C	T	179485937	3	4	159	1	0	0	0	0	1	0	0	0	16831	826	29	2	62653	2	TTN	2	179485937	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	9778079	179485937	63713436	64	28579											
CASP8	841	broad.mit.edu	37	chr2	202131281	202131281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatctggcctccctcaagttCctgagcctggactacattcc	7	11	8	15	0	2	1	1	1	1	0	5	3	5	2	5	2	2	1	5	2	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:202131281C>G	ENST00000358485.4	+	2	445	c.249C>G	c.(247-249)ttC>ttG	p.F83L	CASP8_ENST00000392259.2_Missense_Mutation_p.F24L|CASP8_ENST00000432109.2_Missense_Mutation_p.F24L|CASP8_ENST00000392266.3_Missense_Mutation_p.F24L|CASP8_ENST00000323492.7_Missense_Mutation_p.F24L|CASP8_ENST00000392258.3_Missense_Mutation_p.F24L|CASP8_ENST00000264274.9_Missense_Mutation_p.F24L|CASP8_ENST00000264275.5_Missense_Mutation_p.F24L	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	24					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCCTCAAGTTCCTGAGCCTGG	0.433										HNSCC(4;0.00038)			15	38					0	0	0	0	G	202131281	C	G	202131281	3	3	159	1	0	0	0	0	1	0	0	0	2702	854	30	2	255	2	CASP8	2	202131281	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	22645344	202131281	41068092	65	28580											
CASP8	841	broad.mit.edu	37	chr2	202149735	202149735	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatggacaggaggcccccatCtatgagctgacatctcagtt	10	9	11	11	0	2	2	1	2	2	0	3	5	2	4	2	3	1	2	2	3	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:202149735C>G	ENST00000358485.4	+	8	1372	c.1176C>G	c.(1174-1176)atC>atG	p.I392M	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000432109.2_Missense_Mutation_p.I333M|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Missense_Mutation_p.I318M|CASP8_ENST00000264274.9_Missense_Mutation_p.I249M|CASP8_ENST00000264275.5_Missense_Mutation_p.I350M	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	333					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGCCCCCATCTATGAGCTGA	0.488										HNSCC(4;0.00038)			43	101					0	0	0	0	G	202149735	C	G	202149735	3	3	159	1	0	0	0	0	1	0	0	0	2702	903	32	2	1306	2	CASP8	2	202149735	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	18454	202149735	41049638	66	28581											
FZD7	8324	broad.mit.edu	37	chr2	202899764	202899764	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcgcgcccgccagggctgcGaggcgctcatgaacaagttc	8	5	14	14	5	1	1	1	1	0	0	2	2	1	1	2	2	3	3	2	2	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:202899764G>C	ENST00000286201.1	+	1	455	c.394G>C	c.(394-396)Gag>Cag	p.E132Q		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	132	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CCAGGGCTGCGAGGCGCTCAT	0.657											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	101					0	0	0	0	C	202899764	G	C	202899764	3	2	159	1	0	0	0	0	1	0	0	0	6183	1059	37	3	396	3	FZD7	2	202899764	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	750029	202899764	40299609	67	28582											
CD28	940	broad.mit.edu	37	chr2	204571443	204571443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaggctgctcttggctctCaacttattcccttcaattca	7	15	5	14	0	5	0	4	0	2	0	7	0	6	0	1	2	2	3	1	2	3	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:204571443C>T	ENST00000374481.3	+	1	246	c.24C>T	c.(22-24)ctC>ctT	p.L8L	CD28_ENST00000458610.2_Intron|CD28_ENST00000374478.4_Silent_p.L8L|CD28_ENST00000324106.7_Silent_p.L8L			P10747	CD28_HUMAN	CD28 molecule	8					cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTTGGCTCTCAACTTATTCC	0.438													16	50					0	0	0	0	T	204571443	C	T	204571443	2	4	159	1	0	0	0	0	0	0	0	1	3022	813	29	2		2	CD28	2	204571443	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1671679	204571443	38627930	68	28583											
FZD5	7855	broad.mit.edu	37	chr2	208633089	208633089	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcatgcgctcgggccaggcGaagccgtactggcgcatcag	7	6	14	14	5	2	0	2	0	0	0	3	1	2	0	2	3	3	3	2	3	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:208633089G>A	ENST00000295417.3	-	2	928	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	125	FZ.				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CGGGCCAGGCGAAGCCGTACT	0.721													3	15					0	0	0	0	A	208633089	G	A	208633089	2	1	159	1	0	0	0	0	0	0	0	1	6181	1049	37	1		1	FZD5	2	208633089	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	4061646	208633089	34566284	69	28584											
SPAG16	79582	broad.mit.edu	37	chr2	215013969	215013969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggtccaagtcctggcaatGaggtgaattttgattcatca	11	13	10	7	0	2	3	2	3	0	0	4	3	4	3	2	3	0	1	2	3	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:215013969G>A	ENST00000331683.5	+	15	1794	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	SPAG16_ENST00000374309.3_Missense_Mutation_p.E473K	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	567					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TCCTGGCAATGAGGTGAATTT	0.388													14	64					0	0	0	0	A	215013969	G	A	215013969	3	1	159	1	0	0	0	0	1	0	0	0	15068	1291	45	2	1773	2	SPAG16	2	215013969	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	6380880	215013969	28185404	70	28585											
C2orf62	375307	broad.mit.edu	37	chr2	219221871	219221871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggagtgtctgccactcccaGaggccaatgctgaagccatc	9	7	11	14	1	1	2	0	1	1	1	3	3	2	3	4	2	3	1	4	2	2	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:219221871G>A	ENST00000289388.3	+	2	108	c.79G>A	c.(79-81)Gag>Aag	p.E27K	AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	27										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACTCCCAGAGGCCAATGC	0.632													22	59					0	0	0	0	A	219221871	G	A	219221871	3	1	159	1	0	0	0	0	1	0	0	0	2201	943	33	2	85	2	C2orf62	2	219221871	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	4207902	219221871	23977502	71	28586											
DOCK10	55619	broad.mit.edu	37	chr2	225666675	225666675	+	Frame_Shift_Del	DEL	A	A	-																															ctgtaagagtttggggttagAaagtgcatttttgcctcgaa																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:225666675delA	ENST00000409592.3	-	40	4446	c.4333delT	c.(4333-4335)ctfs	p.S1445fs	DOCK10_ENST00000258390.7_Frame_Shift_Del_p.S1451fs			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1451							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGGGGTTAGAAAGTGCATTT	0.373													31	73	---	---	---	---					-	225666675	A	-	225666675	7	5	159	1	0	1	0	1	0	0	0	0	4721	246	9	0	2277	0	DOCK10	2	225666675	Frame_Shift_Del	DEL	A	TCGA-CQ-7071-01A-12D-A30E-08	6444804	225666675	17532698	72	28587											
DOCK10	55619	broad.mit.edu	37	chr2	225751178	225751178	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaactatttacttacttCatccttatcagcatcttcat	10	19	1	11	0	5	0	4	0	1	0	6	0	6	0	1	0	4	1	1	0	5	8			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:225751178C>A	ENST00000409592.3	-	5	582	c.469G>T	c.(469-471)Gaa>Taa	p.E157*	DOCK10_ENST00000258390.7_Nonsense_Mutation_p.E163*			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	163							GTP binding	p.E163K(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTACTTACTTCATCCTTATCA	0.338													4	18					0.150653	0.151144	1	0	A	225751178	C	A	225751178	4	1	159	1	0	0	0	0	0	1	0	0	4721	835	29	2	6281	2	DOCK10	2	225751178	Nonsense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	84503	225751178	17448195	73	28588											
SP140L	93349	broad.mit.edu	37	chr2	231193506	231193506	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtttcacaagtagcaaatGagatgaaccatcttcctgca	13	11	8	9	0	2	2	1	2	1	1	3	3	3	2	2	0	3	4	2	0	4	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:231193506G>C	ENST00000243810.6	+	2	67	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	SP140L_ENST00000444636.1_Missense_Mutation_p.E23Q|SP140L_ENST00000415673.2_Missense_Mutation_p.E23Q|SP140_ENST00000486687.2_Intron|SP140L_ENST00000396563.4_Missense_Mutation_p.E23Q			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	23						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						agtagcaaatgagatgaacca	0.383													10	27					0	0	0	0	C	231193506	G	C	231193506	3	2	159	1	0	0	0	0	1	0	0	0	15051	1291	45	2	73	2	SP140L	2	231193506	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	5442328	231193506	12005867	74	28589											
LRRFIP1	9208	broad.mit.edu	37	chr2	238672057	238672057	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcattggactcatcgcagaaGaagacaaagaacaagaaaaa	21	4	9	7	1	1	5	1	0	0	5	2	6	1	6	0	1	1	2	0	1	7	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:238672057G>C	ENST00000244815.5	+	10	1869	c.1629G>C	c.(1627-1629)aaG>aaC	p.K543N	LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.K511N|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.K567N	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	567	DNA-binding.				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CATCGCagaagaagacaaaga	0.393													26	53					0	0	0	0	C	238672057	G	C	238672057	3	2	159	1	0	0	0	0	1	0	0	0	9091	933	33	2	2419	2	LRRFIP1	2	238672057	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	7478551	238672057	4527316	75	28590											
CHL1	10752	broad.mit.edu	37	chr3	383734	383734	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agattaaggactattgtacaGaaaatgccaatgaaactaac	19	9	7	6	0	0	3	0	1	0	2	0	4	0	4	1	1	4	1	1	1	8	5	rs116736772	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:383734G>C	ENST00000256509.2	+	7	1290	c.648G>C	c.(646-648)caG>caC	p.Q216H	CHL1_ENST00000397491.2_Missense_Mutation_p.Q216H	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	216	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTATTGTACAGAAAATGCCAA	0.383													7	23					0	0	0	0	C	383734	G	C	383734	3	2	159	1	0	0	0	0	1	0	0	0	3378	933	33	2	666	2	CHL1	3	383734	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08		383734	197638696	76	28591											
ITPR1	3708	broad.mit.edu	37	chr3	4715998	4715998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcagaggttccctttctctGataaagagaagaataagctt	13	12	9	7	0	2	4	1	1	1	3	4	5	3	4	1	1	1	2	1	1	5	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:4715998G>A	ENST00000302640.8	+	21	2874	c.2524G>A	c.(2524-2526)Gat>Aat	p.D842N	ITPR1_ENST00000357086.4_Missense_Mutation_p.D857N|ITPR1_ENST00000354582.6_Missense_Mutation_p.D857N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.D842N|ITPR1_ENST00000443694.2_Missense_Mutation_p.D842N|ITPR1_ENST00000423119.2_Missense_Mutation_p.D857N	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	857					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCCTTTCTCTGATAAAGAGAA	0.388													3	19					0	0	0	0	A	4715998	G	A	4715998	3	1	159	1	0	0	0	0	1	0	0	0	7973	1290	45	2	2647	2	ITPR1	3	4715998	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	4332264	4715998	193306432	77	28592											
RPUSD3	285367	broad.mit.edu	37	chr3	9879810	9879810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgcctgggagaaggagccGatgtaggtggaggtgcaagg	9	6	21	5	1	0	1	0	0	0	1	0	5	0	3	2	7	3	2	2	7	3	1	rs115670492	by1000genomes	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:9879810G>A	ENST00000383820.5	-	9	947	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Missense_Mutation_p.R301W|RPUSD3_ENST00000424438.1_3'UTR	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	316					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					AGAAGGAGCCGATGTAGGTGG	0.662													11	22					0	0	0	0	A	9879810	G	A	9879810	3	1	159	1	0	0	0	0	1	0	0	0	13753	1057	37	1	113	1	RPUSD3	3	9879810	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	5163812	9879810	188142620	78	28593											
ATP2B2	491	broad.mit.edu	37	chr3	10443927	10443927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccagtcattgaaggccGtgaccaggaccacacagata	12	7	10	12	1	1	3	1	2	0	1	2	4	2	4	4	2	1	1	4	2	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:10443927G>A	ENST00000397077.1	-	6	1078	c.503C>T	c.(502-504)aCg>aTg	p.T168M	ATP2B2_ENST00000383800.4_Missense_Mutation_p.T168M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T168M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.T168M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T168M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	168					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ATTGAAGGCCGTGACCAGGAC	0.612													67	238					0	0	0	0	A	10443927	G	A	10443927	3	1	159	1	0	0	0	0	1	0	0	0	1144	1145	40	1	3308	1	ATP2B2	3	10443927	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	564117	10443927	187578503	79	28594											
BTD	686	broad.mit.edu	37	chr3	15686777	15686777	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcttggcttcgacacctgtGgacaggaaatcacagaggcc	10	8	12	11	1	2	1	1	0	1	1	3	4	2	3	2	4	0	1	2	4	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:15686777G>T	ENST00000383778.4	+	4	1712	c.1354G>T	c.(1354-1356)Gga>Tga	p.G452*	BTD_ENST00000437172.1_Nonsense_Mutation_p.G474*|BTD_ENST00000303498.5_Nonsense_Mutation_p.G472*|BTD_ENST00000449107.1_Nonsense_Mutation_p.G474*			P43251	BTD_HUMAN	biotinidase	472					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CGACACCTGTGGACAGGAAAT	0.517													34	91					9.04072e-19	9.75321e-19	1	0	T	15686777	G	T	15686777	4	4	159	1	0	0	0	0	0	1	0	0	1559	1349	47	4	1428	4	BTD	3	15686777	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	5242850	15686777	182335653	80	28595											
KCNH8	131096	broad.mit.edu	37	chr3	19554753	19554753	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaccataataaaaggaaaGagaagaacttgaaattgcaa	22	6	7	6	0	0	3	0	1	0	2	0	5	0	4	2	1	3	1	2	1	9	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:19554753G>C	ENST00000328405.2	+	13	2637	c.2371G>C	c.(2371-2373)Gag>Cag	p.E791Q		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	791						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TAAAAGGAAAGAGAAGAACTT	0.448													9	92					0	0	0	0	C	19554753	G	C	19554753	3	2	159	1	0	0	0	0	1	0	0	0	8091	943	33	2	2421	2	KCNH8	3	19554753	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3867976	19554753	178467677	81	28596											
TGFBR2	7048	broad.mit.edu	37	chr3	30715709	30715709	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctctggtgctctgggAaatgacatctcgctgtaatg	8	12	12	9	1	3	1	0	1	3	0	4	2	3	2	0	3	1	4	0	3	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:30715709A>G	ENST00000295754.5	+	5	1749	c.1367A>G	c.(1366-1368)gAa>gGa	p.E456G	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E481G	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	456	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GTGCTCTGGGAAATGACATCT	0.463													31	75					0	0	0	0	G	30715709	A	G	30715709	3	3	159	1	0	0	0	0	1	0	0	0	15916	246	9	5	1464	5	TGFBR2	3	30715709	Missense_Mutation	SNP	A	TCGA-CQ-7071-01A-12D-A30E-08	11160956	30715709	167306721	82	28597											
TGFBR2	7048	broad.mit.edu	37	chr3	30732942	30732942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgtgtgagacgttgactGagtgctgggaccacgaccca	8	9	15	9	2	0	3	0	3	0	1	0	6	0	4	2	2	1	2	2	2	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:30732942G>A	ENST00000295754.5	+	7	1937	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	519	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.E519K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACGTTGACTGAGTGCTGGGA	0.617													13	43					0	0	0	0	A	30732942	G	A	30732942	3	1	159	1	0	0	0	0	1	0	0	0	15916	1291	45	2	1660	2	TGFBR2	3	30732942	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	17233	30732942	167289488	83	28598											
GOLGA4	2803	broad.mit.edu	37	chr3	37368485	37368485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcagtggaaagttcacagtCagaaacattaattgtaccca	15	10	8	8	0	3	1	3	0	0	1	3	2	3	2	1	1	2	2	1	1	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:37368485C>T	ENST00000361924.2	+	14	5482	c.5108C>T	c.(5107-5109)tCa>tTa	p.S1703L	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.S1725L	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1703	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGTTCACAGTCAGAAACATTA	0.383													64	177					0	0	0	0	T	37368485	C	T	37368485	3	4	159	1	0	0	0	0	1	0	0	0	6606	838	29	2	5232	2	GOLGA4	3	37368485	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	6635543	37368485	160653945	84	28599											
XYLB	9942	broad.mit.edu	37	chr3	38401877	38401877	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatgggctgacggtcacttCtccagtactaatgtgggtcc	7	11	13	10	1	2	1	1	1	1	0	4	2	3	2	2	4	1	2	2	4	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:38401877C>G	ENST00000207870.3	+	3	278	c.188C>G	c.(187-189)tCt>tGt	p.S63C	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	63					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		ACGGTCACTTCTCCAGTACTA	0.532													19	83					0	0	0	0	G	38401877	C	G	38401877	3	3	159	1	0	0	0	0	1	0	0	0	17558	913	32	2	198	2	XYLB	3	38401877	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1033392	38401877	159620553	85	28600											
SCN10A	6336	broad.mit.edu	37	chr3	38755520	38755520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggttcgaagggctttgatggGagccacttcagaatattcca	10	11	12	8	1	1	2	1	1	0	1	3	4	2	3	2	3	1	2	2	3	3	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:38755520G>A	ENST00000449082.2	-	21	3732	c.3733C>T	c.(3733-3735)Ccc>Tcc	p.P1245S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1245					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTTTGATGGGAGCCACTTCA	0.502													34	98					0	0	0	0	A	38755520	G	A	38755520	3	1	159	1	0	0	0	0	1	0	0	0	13999	1174	41	2	2165	2	SCN10A	3	38755520	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	353643	38755520	159266910	86	28601											
PLXNB1	5364	broad.mit.edu	37	chr3	48465367	48465367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacgtgcaaaggcactcacGaagtggtggctgtactcgga	10	7	13	11	3	1	0	1	0	0	0	2	2	1	1	1	4	2	4	1	4	3	1	rs140603920	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:48465367G>A	ENST00000358536.4	-	3	923	c.654C>T	c.(652-654)ttC>ttT	p.F218F	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Silent_p.F218F|PLXNB1_ENST00000296440.6_Silent_p.F218F|PLXNB1_ENST00000456774.1_Silent_p.F218F	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	218	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGCACTCACGAAGTGGTGGC	0.632													15	33					0	0	0	0	A	48465367	G	A	48465367	2	1	159	1	0	0	0	0	0	0	0	1	12195	1049	37	1		1	PLXNB1	3	48465367	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	9709847	48465367	149557063	87	28602											
P4HTM	54681	broad.mit.edu	37	chr3	49043524	49043524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggatgacgtggacctcCgtgacacacggaggcactgt	9	8	13	11	3	1	2	1	2	0	0	2	5	2	5	2	4	0	1	2	4	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:49043524C>T	ENST00000343546.4	+	8	1743	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	P4HTM_ENST00000383729.4_Missense_Mutation_p.R398C	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	398	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CGTGGACCTCCGTGACACACG	0.587													4	173					0	0	0	0	T	49043524	C	T	49043524	3	4	159	1	0	0	0	0	1	0	0	0	11431	652	23	1	1405	1	P4HTM	3	49043524	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	578157	49043524	148978906	88	28603											
WDR6	11180	broad.mit.edu	37	chr3	49050727	49050727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtgtataccacagggcGtgatggagcctactaccagc	10	9	11	11	1	0	1	0	1	0	0	0	2	0	2	3	2	5	1	3	2	5	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:49050727G>A	ENST00000395474.3	+	2	2130	c.1850G>A	c.(1849-1851)cGt>cAt	p.R617H	WDR6_ENST00000415265.2_Missense_Mutation_p.R35H|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_Missense_Mutation_p.R536H	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	587					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCACAGGGCGTGATGGAGCC	0.587													14	32					0	0	0	0	A	49050727	G	A	49050727	3	1	159	1	0	0	0	0	1	0	0	0	17406	1145	40	1	1856	1	WDR6	3	49050727	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	7203	49050727	148971703	89	28604											
SEMA3F	6405	broad.mit.edu	37	chr3	50220147	50220147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgataagctttacttcttCttccgtgagcggtcggcaga	8	13	11	9	3	2	3	0	2	2	1	4	4	3	3	1	2	3	2	1	2	2	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:50220147C>A	ENST00000002829.3	+	9	1318	c.834C>A	c.(832-834)ttC>ttA	p.F278L	SEMA3F_ENST00000413852.1_Missense_Mutation_p.F179L|SEMA3F_ENST00000434342.1_Missense_Mutation_p.F247L	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	278	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTTACTTCTTCTTCCGTGAGC	0.627													27	93					5.61819e-17	6.02927e-17	1	0	A	50220147	C	A	50220147	3	1	159	1	0	0	0	0	1	0	0	0	14116	912	32	2	864	2	SEMA3F	3	50220147	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1169420	50220147	147802283	90	28605											
TLR9	54106	broad.mit.edu	37	chr3	52256285	52256285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagctggtttcctgccaggtCgaggacttccagtttgggca	6	11	13	11	1	0	0	0	0	0	0	3	2	2	1	3	4	2	4	3	4	0	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:52256285C>G	ENST00000597542.1	-	9	3076	c.2119G>C	c.(2119-2121)Gac>Cac	p.D707H	TLR9_ENST00000360658.2_Missense_Mutation_p.D683H|TLR9_ENST00000494383.1_Missense_Mutation_p.R836P			Q9NR96	TLR9_HUMAN	toll-like receptor 9	683					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCTGCCAGGTCGAGGACTTCC	0.597													41	108					0	0	0	0	G	52256285	C	G	52256285	3	3	159	1	0	0	0	0	1	0	0	0	16052	884	31	3	1055	3	TLR9	3	52256285	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2036138	52256285	145766145	91	28606											
FHIT	2272	broad.mit.edu	37	chr3	60522666	60522666	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaacactacagagggcttGatgagatgttggccaaatct	14	9	11	7	0	1	4	0	2	1	3	1	5	1	4	1	2	2	2	1	2	3	3	rs149317894		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:60522666G>C	ENST00000468189.1	-	5	400	c.30C>G	c.(28-30)atC>atG	p.I10M	FHIT_ENST00000492590.1_Missense_Mutation_p.I10M|FHIT_ENST00000341848.4_Missense_Mutation_p.I10M|FHIT_ENST00000476844.1_Missense_Mutation_p.I10M			P49789	FHIT_HUMAN	fragile histidine triad	10	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CAGAGGGCTTGATGAGATGTT	0.378			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				17	42					0	0	0	0	C	60522666	G	C	60522666	3	2	159	1	0	0	0	0	1	0	0	0	5922	1280	45	2	433	2	FHIT	3	60522666	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	8266381	60522666	137499764	92	28607											
LRIG1	26018	broad.mit.edu	37	chr3	66457861	66457861	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcaggacactcaggctgctCagctcggccaggctctcctc	6	7	11	17	2	3	0	2	0	1	0	6	1	3	1	2	4	2	5	2	4	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:66457861C>G	ENST00000383703.3	-	8	1593	c.990G>C	c.(988-990)ctG>ctC	p.L330L	LRIG1_ENST00000273261.3_Silent_p.L330L			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	330						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCAGGCTGCTCAGCTCGGCCA	0.597													14	36					0	0	0	0	G	66457861	C	G	66457861	2	3	159	1	0	0	0	0	0	0	0	1	9008	813	29	2		2	LRIG1	3	66457861	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5935195	66457861	131564569	93	28608											
CNTN3	5067	broad.mit.edu	37	chr3	74350882	74350882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctatggttgtctttacCttctttccaagagagttggg	6	16	12	7	0	2	1	0	0	2	1	3	2	3	1	2	3	1	3	2	3	3	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:74350882C>A	ENST00000263665.6	-	14	1888	c.1861G>T	c.(1861-1863)Ggt>Tgt	p.G621C		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	621	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTGTCTTTACCTTCTTTCCAA	0.463													14	66					1.49906e-05	1.52884e-05	1	0	A	74350882	C	A	74350882	3	1	159	1	0	0	0	0	1	0	0	0	3672	681	24	4	1261	4	CNTN3	3	74350882	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	7893021	74350882	123671548	94	28609											
ROBO2	6092	broad.mit.edu	37	chr3	77526649	77526649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggagtgccagcctccccGgggacacccagaacccacca	9	3	10	19	1	0	1	0	0	0	1	1	3	1	3	8	3	3	0	8	3	1	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:77526649G>T	ENST00000461745.1	+	3	1373	c.473G>T	c.(472-474)cGg>cTg	p.R158L	ROBO2_ENST00000487694.3_Missense_Mutation_p.R174L|ROBO2_ENST00000332191.8_Missense_Mutation_p.R158L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	158	Ig-like C2-type 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGCCTCCCCGGGGACACCCA	0.458													23	102					5.26018e-13	5.58667e-13	1	0	T	77526649	G	T	77526649	3	4	159	1	0	0	0	0	1	0	0	0	13599	1116	39	3	485	3	ROBO2	3	77526649	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3175767	77526649	120495781	95	28610											
CADM2	253559	broad.mit.edu	37	chr3	85961650	85961650	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtagatcacgaatccctCaatgccacccctcaggtagc	12	7	8	14	1	3	2	3	0	0	2	4	3	4	2	4	1	2	2	4	1	4	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:85961650C>T	ENST00000383699.3	+	6	1284	c.657C>T	c.(655-657)ctC>ctT	p.L219L	CADM2_ENST00000407528.2_Silent_p.L210L|CADM2_ENST00000405615.2_Silent_p.L212L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	210	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACGAATCCCTCAATGCCACCC	0.498													10	30					0	0	0	0	T	85961650	C	T	85961650	2	4	159	1	0	0	0	0	0	0	0	1	2592	813	29	2		2	CADM2	3	85961650	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	8435001	85961650	112060780	96	28611											
ZNF654	55279	broad.mit.edu	37	chr3	88188595	88188595	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttatgcagaagcatttgaaGaatcatgttaagaagataca	17	11	8	5	0	1	5	1	1	0	4	1	5	1	5	0	0	3	3	0	0	7	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:88188595G>C	ENST00000309495.5	+	1	342	c.135G>C	c.(133-135)aaG>aaC	p.K45N	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGCATTTGAAGAATCATGTTA	0.393													14	33					0	0	0	0	C	88188595	G	C	88188595	3	2	159	1	0	0	0	0	1	0	0	0	18162	933	33	2	137	2	ZNF654	3	88188595	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	2226945	88188595	109833835	97	28612											
FILIP1L	11259	broad.mit.edu	37	chr3	99568511	99568511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctttagataaaaattgaGctttgtctcgttcattagca	11	16	7	7	1	3	2	1	1	2	1	4	2	3	2	0	0	2	4	0	0	5	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:99568511G>A	ENST00000331335.5	-	5	2479	c.2009C>T	c.(2008-2010)gCt>gTt	p.A670V	FILIP1L_ENST00000383694.2_Missense_Mutation_p.A430V|FILIP1L_ENST00000354552.3_Missense_Mutation_p.A670V|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A430V|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.A246V	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	670						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TAAAAATTGAGCTTTGTCTCG	0.373													24	72					0	0	0	0	A	99568511	G	A	99568511	3	1	159	1	0	0	0	0	1	0	0	0	5940	971	34	4	1427	4	FILIP1L	3	99568511	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	11379916	99568511	98453919	98	28613											
GOLGB1	2804	broad.mit.edu	37	chr3	121383839	121383839	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagtgccacaggagccaatGataggagtccgggaagagtc	12	6	15	8	1	0	3	0	2	0	1	2	6	1	6	3	3	2	0	3	3	3	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:121383839G>A	ENST00000393667.3	-	21	9719	c.9609C>T	c.(9607-9609)atC>atT	p.I3203I	GOLGB1_ENST00000340645.5_Silent_p.I3193I	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	3193					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGGAGCCAATGATAGGAGTCC	0.468													13	43					0	0	0	0	A	121383839	G	A	121383839	2	1	159	1	0	0	0	0	0	0	0	1	6613	1280	45	2		2	GOLGB1	3	121383839	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	21815328	121383839	76638591	99	28614											
KPNA1	3836	broad.mit.edu	37	chr3	122172742	122172742	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggacatcttcaaactctGagctgagcaactctatgaag	12	10	8	11	0	4	3	1	3	3	0	4	4	4	4	1	1	4	2	1	1	4	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:122172742G>C	ENST00000344337.6	-	6	715	c.539C>G	c.(538-540)tCa>tGa	p.S180*	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	180	NLS binding site (major) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTCAAACTCTGAGCTGAGCAA	0.443													15	41					0	0	0	0	C	122172742	G	C	122172742	4	2	159	1	0	0	0	0	0	1	0	0	8481	1294	45	2	1113	2	KPNA1	3	122172742	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	788903	122172742	75849688	100	28615											
DTX3L	151636	broad.mit.edu	37	chr3	122288293	122288293	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcagttgatgagagaagttCttttactgaagtctttgggc	9	15	12	5	0	3	4	1	3	2	1	3	5	3	4	0	1	1	2	0	1	3	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:122288293C>G	ENST00000296161.4	+	3	1546	c.1357C>G	c.(1357-1359)Ctt>Gtt	p.L453V	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	453					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GAGAGAAGTTCTTTTACTGAA	0.403													41	113					0	0	0	0	G	122288293	C	G	122288293	3	3	159	1	0	0	0	0	1	0	0	0	4832	913	32	2	1367	2	DTX3L	3	122288293	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	115551	122288293	75734137	101	28616											
COL6A5	256076	broad.mit.edu	37	chr3	130159322	130159322	+	Frame_Shift_Del	DEL	C	C	-																															aatgaagaatcacatccagaCttccttccaacagctaaatg																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:130159322delC	ENST00000265379.6	+	35	6634	c.6140delC	c.(6139-6141)atfs	p.T2047fs	COL6A5_ENST00000432398.2_Frame_Shift_Del_p.T2047fs			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2047	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CACATCCAGACTTCCTTCCAA	0.408													22	51	---	---	---	---					-	130159322	C	-	130159322	7	5	159	1	0	1	0	1	0	0	0	0	3732	565	20	0	6274	0	COL6A5	3	130159322	Frame_Shift_Del	DEL	C	TCGA-CQ-7071-01A-12D-A30E-08	7871029	130159322	67863108	102	28617											
SPSB4	92369	broad.mit.edu	37	chr3	140785393	140785393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacctgggccgcagccgcctCtaccacgacggcaagaacca	10	3	11	17	4	1	1	0	0	1	1	1	3	1	1	6	2	3	2	6	2	3	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:140785393C>T	ENST00000310546.2	+	2	1191	c.447C>T	c.(445-447)ctC>ctT	p.L149L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	149	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCAGCCGCCTCTACCACGACG	0.716													3	4					0	0	0	0	T	140785393	C	T	140785393	2	4	159	1	0	0	0	0	0	0	0	1	15205	900	32	2		2	SPSB4	3	140785393	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	10626071	140785393	57237037	103	28618											
TM4SF18	116441	broad.mit.edu	37	chr3	149042734	149042734	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaatatggcccttggacaaGacccaaggcagagatgacca	14	5	11	11	0	0	3	0	1	0	2	0	5	0	4	3	3	0	2	3	3	4	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:149042734G>C	ENST00000296059.2	-	4	608	c.343C>G	c.(343-345)Ctt>Gtt	p.L115V	RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Missense_Mutation_p.L115V	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	115						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CCTTGGACAAGACCCAAGGCA	0.473													15	44					0	0	0	0	C	149042734	G	C	149042734	3	2	159	1	0	0	0	0	1	0	0	0	16061	942	33	2	274	2	TM4SF18	3	149042734	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	8257341	149042734	48979696	104	28619											
RNF13	11342	broad.mit.edu	37	chr3	149678610	149678610	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaaaaagttgttccttctCaaggcgattcagactctgac	12	11	8	10	1	3	2	2	1	2	1	5	3	4	2	1	1	1	3	1	1	3	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:149678610C>G	ENST00000344229.3	+	11	1567	c.865C>G	c.(865-867)Caa>Gaa	p.Q289E	RNF13_ENST00000392894.3_Missense_Mutation_p.Q289E|RNF13_ENST00000361785.6_Missense_Mutation_p.Q170E	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	289					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGTTCCTTCTCAAGGCGATTC	0.423													22	71					0	0	0	0	G	149678610	C	G	149678610	3	3	159	1	0	0	0	0	1	0	0	0	13522	827	29	2	899	2	RNF13	3	149678610	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	635876	149678610	48343820	105	28620											
NAALADL2	254827	broad.mit.edu	37	chr3	175189432	175189432	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttgttatttcaggatttCaagaaggttcttcagaaaaa	13	17	7	4	0	4	2	3	0	1	2	4	3	4	3	0	2	0	2	0	2	5	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:175189432C>G	ENST00000454872.1	+	9	1667	c.1539C>G	c.(1537-1539)ttC>ttG	p.F513L	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	513					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TTCAGGATTTCAAGAAGGTTC	0.333													7	12					0	0	0	0	G	175189432	C	G	175189432	3	3	159	1	0	0	0	0	1	0	0	0	10200	825	29	2	1573	2	NAALADL2	3	175189432	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	25510822	175189432	22832998	106	28621											
LRRC15	131578	broad.mit.edu	37	chr3	194081391	194081391	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	actggacagaaggagagactCgaggctgtccaggccctgga	11	5	15	10	1	0	2	0	0	0	2	2	7	1	5	2	5	0	1	2	5	1	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:194081391C>G	ENST00000347624.3	-	2	467	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	LRRC15_ENST00000428839.1_Missense_Mutation_p.E134Q|LRRC15_ENST00000439944.2_Missense_Mutation_p.E134Q	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	128						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGGAGAGACTCGAGGCTGTCC	0.612													30	71					0	0	0	0	G	194081391	C	G	194081391	3	3	159	1	0	0	0	0	1	0	0	0	9034	893	31	3	1367	3	LRRC15	3	194081391	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	18891959	194081391	3941039	107	28622											
MUC4	4585	broad.mit.edu	37	chr3	195511818	195511818	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgctgaggaagggctggtGacaggaagaggggtggcctg	9	6	21	5	0	0	3	0	2	0	1	0	6	0	5	1	7	1	2	1	7	2	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:195511818G>A	ENST00000463781.3	-	2	7092	c.6633C>T	c.(6631-6633)gtC>gtT	p.V2211V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.V2211V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1000					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGGGCTGGTGACAGGAAGAG	0.597													3	3					0	0	0	0	A	195511818	G	A	195511818	2	1	159	1	0	0	0	0	0	0	0	1	10048	1277	45	2		2	MUC4	3	195511818	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1430427	195511818	2510612	108	28623											
PAK2	5062	broad.mit.edu	37	chr3	196529932	196529932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttactacagacctccaatatCaccaaactagagcaaaagaa	19	7	4	11	0	1	3	1	0	0	3	2	3	2	3	3	0	4	1	3	0	9	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:196529932C>G	ENST00000327134.3	+	4	655	c.333C>G	c.(331-333)atC>atG	p.I111M		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	111	Autoregulatory region (By similarity).|GTPase-binding (By similarity).				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCTCCAATATCACCAAACTAG	0.393													11	57					0	0	0	0	G	196529932	C	G	196529932	3	3	159	1	0	0	0	0	1	0	0	0	11472	816	29	2	343	2	PAK2	3	196529932	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1018114	196529932	1492498	109	28624											
ZNF141	7700	broad.mit.edu	37	chr4	367418	367418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagaaaccctacaaatgtGaagaatgtggcaaagccttt	16	8	10	7	0	0	3	0	1	0	2	0	5	0	3	2	1	3	1	2	1	6	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:367418G>A	ENST00000240499.7	+	4	1341	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	398					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CTACAAATGTGAAGAATGTGG	0.418													41	96					0	0	0	0	A	367418	G	A	367418	3	1	159	1	0	0	0	0	1	0	0	0	17825	1291	45	2	1206	2	ZNF141	4	367418	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08		367418	190786858	110	28625											
KIAA0232	9778	broad.mit.edu	37	chr4	6863601	6863601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagaggacaataaatacCtggatgatattcatctatca	16	11	6	8	0	3	2	2	1	1	1	3	4	3	4	2	2	2	0	2	2	7	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:6863601C>G	ENST00000307659.5	+	7	1947	c.1492C>G	c.(1492-1494)Ctg>Gtg	p.L498V	KIAA0232_ENST00000425103.1_Missense_Mutation_p.L498V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	498							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAATAAATACCTGGATGATAT	0.383													12	54					0	0	0	0	G	6863601	C	G	6863601	3	3	159	1	0	0	0	0	1	0	0	0	8214	680	24	4	1510	4	KIAA0232	4	6863601	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	6496183	6863601	184290675	111	28626											
PROM1	8842	broad.mit.edu	37	chr4	16024960	16024960	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actgcttacctgttgccatgGacttaatctcatcaagaaca	12	12	6	11	0	2	1	2	0	1	1	3	2	2	2	2	1	4	2	2	1	4	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:16024960G>C	ENST00000505450.1	-	7	1358	c.746C>G	c.(745-747)tCc>tGc	p.S249C	PROM1_ENST00000510224.1_Missense_Mutation_p.S258C|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000447510.2_Missense_Mutation_p.S258C|PROM1_ENST00000543373.1_Missense_Mutation_p.S249C|PROM1_ENST00000539194.1_Missense_Mutation_p.S258C|PROM1_ENST00000508167.1_Missense_Mutation_p.S249C|PROM1_ENST00000540805.1_Missense_Mutation_p.S258C	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	258					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TGTTGCCATGGACTTAATCTC	0.473													7	11					0	0	0	0	C	16024960	G	C	16024960	3	2	159	1	0	0	0	0	1	0	0	0	12635	1174	41	2	1904	2	PROM1	4	16024960	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	9161359	16024960	175129316	112	28627											
SLIT2	9353	broad.mit.edu	37	chr4	20599966	20599966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtagaactctatcgggggCgtgttcgtgccagctatgac	7	10	14	10	4	1	2	0	1	1	1	3	2	1	2	1	3	3	3	1	3	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:20599966C>T	ENST00000504154.1	+	33	3892	c.3640C>T	c.(3640-3642)Cgt>Tgt	p.R1214C	SLIT2_ENST00000503823.1_Missense_Mutation_p.R1206C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1227C|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1210C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1214	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTATCGGGGGCGTGTTCGTGC	0.473													41	114					0	0	0	0	T	20599966	C	T	20599966	3	4	159	1	0	0	0	0	1	0	0	0	14828	768	27	1	3770	1	SLIT2	4	20599966	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	4575006	20599966	170554310	113	28628											
SLIT2	9353	broad.mit.edu	37	chr4	20619061	20619061	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgttcctcctccctgtaGatgcgtacatggcacctgct	5	13	9	14	1	0	1	0	0	0	1	3	1	3	1	4	1	3	5	4	1	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:20619061G>C	ENST00000504154.1	+	36	4388		c.e36-1		SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCTCCCTGTAGATGCGTACAT	0.493													4	27					0	0	0	0	C	20619061	G	C	20619061	5	2	159	1	0	0	0	0	0	0	1	0	14828	956	33	2	4278	2	SLIT2	4	20619061	Splice_Site	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	19095	20619061	170535215	114	28629											
WDR19	57728	broad.mit.edu	37	chr4	39230269	39230269	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaagatacggggcctgaCgaactgagaccaatgctggc	13	7	12	9	2	0	3	0	2	0	2	0	5	0	3	2	3	3	1	2	3	5	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:39230269C>T	ENST00000399820.3	+	17	2095	c.1941C>T	c.(1939-1941)gaC>gaT	p.D647D	WDR19_ENST00000288634.7_Silent_p.D487D|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	647					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CGGGGCCTGACGAACTGAGAC	0.418													25	115					0	0	0	0	T	39230269	C	T	39230269	2	4	159	1	0	0	0	0	0	0	0	1	17375	535	19	1		1	WDR19	4	39230269	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	18611208	39230269	151924007	115	28630											
KDR	3791	broad.mit.edu	37	chr4	55953828	55953828	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacatacttcctcctccTccatacaggaaacaggtgag	11	9	8	13	0	1	1	1	1	0	0	5	2	5	2	4	3	3	0	4	3	3	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:55953828T>C	ENST00000263923.4	-	27	3903	c.3608A>G	c.(3607-3609)gAg>gGg	p.E1203G	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1203					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTCCTCCTCCTCCATACAGGA	0.488			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			12	47					0	0	0	0	C	55953828	T	C	55953828	3	2	159	1	0	0	0	0	1	0	0	0	8191	1551	54	5	478	5	KDR	4	55953828	Missense_Mutation	SNP	T	TCGA-CQ-7071-01A-12D-A30E-08	16723559	55953828	135200448	116	28631											
UBA6	55236	broad.mit.edu	37	chr4	68504713	68504713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatgctgtaataattacatCttgtttagtatagaactcat	14	17	5	5	0	2	1	1	0	1	1	2	1	2	1	0	0	3	4	0	0	8	9			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:68504713C>G	ENST00000322244.4	-	19	1743	c.1684G>C	c.(1684-1686)Gat>Cat	p.D562H		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	562					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATAATTACATCTTGTTTAGTA	0.333													15	39					0	0	0	0	G	68504713	C	G	68504713	3	3	159	1	0	0	0	0	1	0	0	0	16928	913	32	2	1534	2	UBA6	4	68504713	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	12550885	68504713	122649563	117	28632											
UBA6	55236	broad.mit.edu	37	chr4	68506923	68506923	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaagttggatttctctatCaagtcaggatctgtaactgt	10	17	8	6	0	4	0	2	0	2	0	5	2	4	2	0	2	1	2	0	2	4	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:68506923C>G	ENST00000322244.4	-	18	1559	c.1500G>C	c.(1498-1500)ttG>ttC	p.L500F		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	500					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATTTCTCTATCAAGTCAGGAT	0.284													52	129					0	0	0	0	G	68506923	C	G	68506923	3	3	159	1	0	0	0	0	1	0	0	0	16928	825	29	2	1722	2	UBA6	4	68506923	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2210	68506923	122647353	118	28633											
GNRHR	2798	broad.mit.edu	37	chr4	68619908	68619908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaagcattaaaggtcgcaGagagcagaaaaaggaagaaa	22	3	12	4	1	0	4	0	0	0	4	1	6	0	5	0	2	2	3	0	2	8	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:68619908G>C	ENST00000226413.4	-	1	170	c.146C>G	c.(145-147)tCt>tGt	p.S49C	GNRHR_ENST00000420975.2_Missense_Mutation_p.S49C|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	49					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AAAGGTCGCAGAGAGCAGAAA	0.448													27	103					0	0	0	0	C	68619908	G	C	68619908	3	2	159	1	0	0	0	0	1	0	0	0	6600	942	33	2	852	2	GNRHR	4	68619908	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	112985	68619908	122534368	119	28634											
MUC7	4589	broad.mit.edu	37	chr4	71347025	71347025	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagctccaccagagacCacagctgccccacccacacc	10	4	5	22	0	1	1	1	0	0	1	3	2	3	1	8	0	3	2	8	0	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:71347025C>A	ENST00000413702.1	+	4	852	c.564C>A	c.(562-564)acC>acA	p.T188T	MUC7_ENST00000304887.5_Silent_p.T188T|MUC7_ENST00000456088.1_Silent_p.T188T	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	188	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CACCAGAGACCACAGCTGCCC	0.587													48	141					4.00472e-15	4.2754e-15	1	0	A	71347025	C	A	71347025	2	1	159	1	0	0	0	0	0	0	0	1	10051	581	21	4		4	MUC7	4	71347025	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2727117	71347025	119807251	120	28635											
ADH1A	124	broad.mit.edu	37	chr4	100205590	100205590	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcagacccataaccagttGaaaatccacagccaatgaga	16	6	7	12	0	0	3	0	2	0	2	1	4	1	3	4	0	3	2	4	0	4	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:100205590G>C	ENST00000209668.2	-	5	646	c.533C>G	c.(532-534)tCa>tGa	p.S178*	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	178					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ATAACCAGTTGAAAATCCACA	0.458													28	71					0	0	0	0	C	100205590	G	C	100205590	4	2	159	1	0	0	0	0	0	1	0	0	307	1294	45	2	614	2	ADH1A	4	100205590	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	28858565	100205590	90948686	121	28636											
ARSJ	79642	broad.mit.edu	37	chr4	114823652	114823652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accggcactgcagttttgttGaactgtgagagcctccgtag	8	11	12	10	2	0	2	0	2	0	1	1	3	1	2	3	1	3	5	3	1	2	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:114823652G>A	ENST00000315366.7	-	2	2444	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	ARSJ_ENST00000541197.1_Silent_p.F526F	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	526						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CAGTTTTGTTGAACTGTGAGA	0.512													13	38					0	0	0	0	A	114823652	G	A	114823652	2	1	159	1	0	0	0	0	0	0	0	1	999	1281	45	2		2	ARSJ	4	114823652	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	14618062	114823652	76330624	122	28637											
NDST4	64579	broad.mit.edu	37	chr4	115891626	115891626	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatcatctgctctactaaaGatgactcgttgtggaagagg	12	11	11	7	1	3	3	1	1	2	2	4	5	3	4	0	2	2	2	0	2	5	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:115891626G>C	ENST00000264363.2	-	4	1859	c.1181C>G	c.(1180-1182)tCt>tGt	p.S394C		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	394	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTCTACTAAAGATGACTCGTT	0.443													17	32					0	0	0	0	C	115891626	G	C	115891626	3	2	159	1	0	0	0	0	1	0	0	0	10328	942	33	2	1481	2	NDST4	4	115891626	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1067974	115891626	75262650	123	28638											
PRSS12	8492	broad.mit.edu	37	chr4	119252894	119252894	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcccagctgcctgcagatCacttctgcatcggcatcatc	8	9	9	15	1	3	1	2	0	1	1	5	1	3	1	2	2	4	4	2	2	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:119252894C>G	ENST00000296498.3	-	4	1230	c.948G>C	c.(946-948)gtG>gtC	p.V316V		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	316	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GCCTGCAGATCACTTCTGCAT	0.493													12	70					0	0	0	0	G	119252894	C	G	119252894	2	3	159	1	0	0	0	0	0	0	0	1	12694	813	29	2		2	PRSS12	4	119252894	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	3361268	119252894	71901382	124	28639											
INPP4B	8821	broad.mit.edu	37	chr4	143033698	143033698	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacaccaaagcttaccttTcagccagagtttgctgttca	10	13	6	12	0	2	1	2	0	0	1	2	1	2	1	3	0	5	4	3	0	3	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:143033698T>G	ENST00000513000.1	-	23	2706	c.2273A>C	c.(2272-2274)gAa>gCa	p.E758A	INPP4B_ENST00000262992.4_Missense_Mutation_p.E758A|INPP4B_ENST00000308502.4_Missense_Mutation_p.E758A|INPP4B_ENST00000508116.1_Missense_Mutation_p.E758A|INPP4B_ENST00000509777.1_Missense_Mutation_p.E758A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	758					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AGCTTACCTTTCAGCCAGAGT	0.373													25	60					0	0	0	0	G	143033698	T	G	143033698	3	3	159	1	0	0	0	0	1	0	0	0	7806	1783	62	5	521	5	INPP4B	4	143033698	Missense_Mutation	SNP	T	TCGA-CQ-7071-01A-12D-A30E-08	23780804	143033698	48120578	125	28640											
USP38	84640	broad.mit.edu	37	chr4	144135764	144135764	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcagatgtaccaccagtctGaggctctggcattagcatcc	10	10	9	12	0	3	2	1	1	2	1	4	2	4	2	3	2	2	4	3	2	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:144135764G>C	ENST00000307017.4	+	9	3141	c.2635G>C	c.(2635-2637)Gag>Cag	p.E879Q	USP38_ENST00000510377.1_Missense_Mutation_p.E879Q	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	879					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CCACCAGTCTGAGGCTCTGGC	0.418													23	29					0	0	0	0	C	144135764	G	C	144135764	3	2	159	1	0	0	0	0	1	0	0	0	17165	1291	45	2	2669	2	USP38	4	144135764	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1102066	144135764	47018512	126	28641											
ABCE1	6059	broad.mit.edu	37	chr4	146033476	146033476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacgatctctaataaatccaGataggtaagtagagatctgg	15	11	9	6	1	2	2	0	0	2	2	4	4	3	2	1	2	1	2	1	2	7	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:146033476G>C	ENST00000296577.4	+	9	1311	c.796G>C	c.(796-798)Gat>Cat	p.D266H	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	266	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					AATAAATCCAGATAGGTAAGT	0.338													5	7					0	0	0	0	C	146033476	G	C	146033476	3	2	159	1	0	0	0	0	1	0	0	0	64	942	33	2	826	2	ABCE1	4	146033476	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1897712	146033476	45120800	127	28642											
PLRG1	5356	broad.mit.edu	37	chr4	155457852	155457852	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcattaaaatctctttctCttgataatttctggtttcca	10	20	3	8	0	4	1	1	1	3	0	7	1	5	1	1	1	0	1	1	1	3	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:155457852C>G	ENST00000499023.2	-	15	1656	c.1530G>C	c.(1528-1530)aaG>aaC	p.K510N	PLRG1_ENST00000393905.2_Missense_Mutation_p.K510N|PLRG1_ENST00000302078.5_Missense_Mutation_p.K501N	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	510						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				ATCTCTTTCTCTTGATAATTT	0.279													15	21					0	0	0	0	G	155457852	C	G	155457852	3	3	159	1	0	0	0	0	1	0	0	0	12178	912	32	2	18	2	PLRG1	4	155457852	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	9424376	155457852	35696424	128	28643											
FGA	2243	broad.mit.edu	37	chr4	155510018	155510018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgagaatccttattgttCttctgatattcaaatagtga	13	16	7	5	0	3	3	1	3	2	1	4	5	4	3	1	0	0	1	1	0	6	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:155510018C>T	ENST00000302053.3	-	3	369	c.291G>A	c.(289-291)aaG>aaA	p.K97K	FGA_ENST00000403106.3_Silent_p.K97K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	97					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTTATTGTTCTTCTGATATT	0.333													35	75					0	0	0	0	T	155510018	C	T	155510018	2	4	159	1	0	0	0	0	0	0	0	1	5875	912	32	2		2	FGA	4	155510018	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	52166	155510018	35644258	129	28644											
KIAA0947	23379	broad.mit.edu	37	chr5	5460625	5460625	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaattctgctgagtgtgtttCagaagatgatacaactgaat	14	13	9	5	0	2	5	1	3	1	2	2	5	2	5	0	0	3	2	0	0	5	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:5460625C>G	ENST00000296564.7	+	13	1400	c.1178C>G	c.(1177-1179)tCa>tGa	p.S393*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	393										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGTGTGTTTCAGAAGATGAT	0.368													7	14					0	0	0	0	G	5460625	C	G	5460625	4	3	159	1	0	0	0	0	0	1	0	0	8253	838	29	2	1228	2	KIAA0947	5	5460625	Nonsense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08		5460625	175454635	130	28645											
KIAA0947	23379	broad.mit.edu	37	chr5	5461756	5461756	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaataagccagatttcacatCattaataggttctcaggctg	14	12	7	8	0	3	1	3	0	1	1	4	1	3	1	1	2	1	2	1	2	4	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:5461756C>G	ENST00000296564.7	+	13	2531	c.2309C>G	c.(2308-2310)tCa>tGa	p.S770*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	770										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GATTTCACATCATTAATAGGT	0.388													9	15					0	0	0	0	G	5461756	C	G	5461756	4	3	159	1	0	0	0	0	0	1	0	0	8253	838	29	2	2359	2	KIAA0947	5	5461756	Nonsense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1131	5461756	175453504	131	28646											
FASTKD3	79072	broad.mit.edu	37	chr5	7866918	7866918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccagctttctaaataaagCagaggcatttggtggcaaat	13	12	9	7	0	1	1	0	0	1	1	2	1	2	1	1	3	2	4	1	3	5	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:7866918C>A	ENST00000264669.5	-	2	1415	c.1279G>T	c.(1279-1281)Gct>Tct	p.A427S	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	427					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTAAATAAAGCAGAGGCATTT	0.338													21	46					8.10497e-08	8.37695e-08	1	0	A	7866918	C	A	7866918	3	1	159	1	0	0	0	0	1	0	0	0	5732	710	25	4	733	4	FASTKD3	5	7866918	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2405162	7866918	173048342	132	28647											
FASTKD3	79072	broad.mit.edu	37	chr5	7866996	7866996	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgacgaggtgaaaatttttCtgtttggcaaacaaaagttt	13	14	9	5	1	1	2	0	2	1	0	1	3	1	2	0	2	1	3	0	2	5	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:7866996C>G	ENST00000264669.5	-	2	1337	c.1201G>C	c.(1201-1203)Gaa>Caa	p.E401Q	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	401					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAAAATTTTTCTGTTTGGCAA	0.403													19	52					0	0	0	0	G	7866996	C	G	7866996	3	3	159	1	0	0	0	0	1	0	0	0	5732	922	32	2	811	2	FASTKD3	5	7866996	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	78	7866996	173048264	133	28648											
CCT5	22948	broad.mit.edu	37	chr5	10263367	10263367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgaccgaagtccgagccaGacaggtgaaggagatgaacc	14	5	13	9	2	0	5	0	3	0	2	1	8	1	5	4	2	2	0	4	2	4	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:10263367G>A	ENST00000280326.4	+	10	1859	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	CCT5_ENST00000503026.1_Missense_Mutation_p.R459K|CCT5_ENST00000515390.1_Missense_Mutation_p.R425K|CCT5_ENST00000515676.1_Missense_Mutation_p.R442K|CCT5_ENST00000506600.1_Missense_Mutation_p.R387K	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	480					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GTCCGAGCCAGACAGGTGAAG	0.577													20	45					0	0	0	0	A	10263367	G	A	10263367	3	1	159	1	0	0	0	0	1	0	0	0	2985	942	33	2	1477	2	CCT5	5	10263367	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	2396371	10263367	170651893	134	28649											
DNAH5	1767	broad.mit.edu	37	chr5	13721250	13721250	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcccatagacaggagacaGatgagtggcgtccgtggatc	11	6	15	9	2	0	4	0	1	0	3	2	7	1	5	2	3	1	0	2	3	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:13721250G>C	ENST00000265104.4	-	71	12242	c.12138C>G	c.(12136-12138)atC>atG	p.I4046M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4046	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGGAGACAGATGAGTGGCG	0.498									Kartagener syndrome				32	90					0	0	0	0	C	13721250	G	C	13721250	3	2	159	1	0	0	0	0	1	0	0	0	4641	932	33	2	1772	2	DNAH5	5	13721250	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3457883	13721250	167194010	135	28650											
ANKH	56172	broad.mit.edu	37	chr5	14713736	14713736	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggacgaaggttttcttCagtgtcatcagccacccggt	9	10	11	11	2	4	0	3	0	1	0	4	2	4	1	2	3	1	2	2	3	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:14713736C>A	ENST00000284268.6	-	10	1512	c.1182G>T	c.(1180-1182)ctG>ctT	p.L394L	ANKH_ENST00000535119.1_Silent_p.L196L	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	394					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGGTTTTCTTCAGTGTCATCA	0.607													11	55					0.000673444	0.000680068	1	0	A	14713736	C	A	14713736	2	1	159	1	0	0	0	0	0	0	0	1	627	813	29	2		2	ANKH	5	14713736	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	992486	14713736	166201524	136	28651											
CDH18	1016	broad.mit.edu	37	chr5	19483580	19483580	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaggggattccaccatcaGagatcataatgggcagataa	15	7	12	7	0	2	3	2	0	0	3	3	6	3	4	2	3	0	1	2	3	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:19483580G>C	ENST00000507958.1	-	14	2702	c.1712C>G	c.(1711-1713)tCt>tGt	p.S571C	CDH18_ENST00000274170.4_Missense_Mutation_p.S571C|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.S571C			Q13634	CAD18_HUMAN	cadherin 18, type 2	571	Cadherin 5.				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)					TCCACCATCAGAGATCATAAT	0.507													12	28					0	0	0	0	C	19483580	G	C	19483580	3	2	159	1	0	0	0	0	1	0	0	0	3132	942	33	2	668	2	CDH18	5	19483580	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	4769844	19483580	161431680	137	28652											
C5orf22	55322	broad.mit.edu	37	chr5	31538724	31538724	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctggaaattttgaagaaaggGaaggcatttgttttagatat	14	14	11	2	0	0	3	0	1	0	2	0	5	0	5	0	3	0	2	0	3	6	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:31538724G>C	ENST00000325366.9	+	4	862	c.735G>C	c.(733-735)ggG>ggC	p.G245G	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	245										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						TGAAGAAAGGGAAGGCATTTG	0.368													10	19					0	0	0	0	C	31538724	G	C	31538724	2	2	159	1	0	0	0	0	0	0	0	1	2306	1161	41	2		2	C5orf22	5	31538724	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	12055144	31538724	149376536	138	28653											
PDZD2	23037	broad.mit.edu	37	chr5	32087656	32087656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggaaatgacaggaatcCatgcacctgaaagctcccag	13	7	9	12	0	1	2	0	2	1	0	3	4	3	4	3	2	2	2	3	2	3	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:32087656C>T	ENST00000438447.1	+	20	4490	c.4102C>T	c.(4102-4104)Cat>Tat	p.H1368Y	PDZD2_ENST00000282493.3_Missense_Mutation_p.H1368Y			O15018	PDZD2_HUMAN	PDZ domain containing 2	1368					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GACAGGAATCCATGCACCTGA	0.597													9	34					0	0	0	0	T	32087656	C	T	32087656	3	4	159	1	0	0	0	0	1	0	0	0	11772	594	21	4	4176	4	PDZD2	5	32087656	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	548932	32087656	148827604	139	28654											
PRLR	5618	broad.mit.edu	37	chr5	35066071	35066071	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgacttgggtgttcttttGaatggactgacattagatgc	8	16	11	6	0	1	4	0	3	1	1	1	5	1	5	0	2	1	1	0	2	2	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:35066071G>C	ENST00000382002.5	-	10	1415	c.989C>G	c.(988-990)tCa>tGa	p.S330*	PRLR_ENST00000231423.3_Nonsense_Mutation_p.S330*|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Nonsense_Mutation_p.S229*|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_Nonsense_Mutation_p.S330*|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Nonsense_Mutation_p.S229*|PRLR_ENST00000348262.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	330					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTGTTCTTTTGAATGGACTGA	0.483													11	49					0	0	0	0	C	35066071	G	C	35066071	4	2	159	1	0	0	0	0	0	1	0	0	12611	1294	45	2	883	2	PRLR	5	35066071	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	2978415	35066071	145849189	140	28655											
CARD6	84674	broad.mit.edu	37	chr5	40853799	40853799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttggtattcaatccttcCatccccagatattttattca	9	18	4	10	0	2	1	2	0	0	1	5	1	5	1	4	1	0	2	4	1	4	9			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:40853799C>T	ENST00000254691.5	+	3	2564	c.2365C>T	c.(2365-2367)Cat>Tat	p.H789Y	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	789					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCAATCCTTCCATCCCCAGAT	0.478													92	244					0	0	0	0	T	40853799	C	T	40853799	3	4	159	1	0	0	0	0	1	0	0	0	2675	594	21	4	2375	4	CARD6	5	40853799	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5787728	40853799	140061461	141	28656											
CMYA5	202333	broad.mit.edu	37	chr5	79032926	79032926	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagtagatatcacaaaaGaaagtatgaaagaaggattt	19	10	9	3	0	2	4	2	1	0	3	2	5	2	5	0	1	0	3	0	1	8	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:79032926G>T	ENST00000446378.2	+	2	8369	c.8338G>T	c.(8338-8340)Gaa>Taa	p.E2780*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2780						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TATCACAAAAGAAAGTATGAA	0.388													16	23					1.52009e-12	1.60889e-12	1	0	T	79032926	G	T	79032926	4	4	159	1	0	0	0	0	0	1	0	0	3620	943	33	2	8344	2	CMYA5	5	79032926	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	38179127	79032926	101882334	142	28657											
KCNN2	3781	broad.mit.edu	37	chr5	113699651	113699653	+	In_Frame_Del	DEL	ATC	ATC	-																															gccttatcagtctctccacgAtcatcctgctcggtctgatc																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:113699651_113699653delATC	ENST00000512097.3	+	3	1553_1555	c.535_537delATC	c.(535-537)del	p.I180del	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_In_Frame_Del_p.I180del			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	180						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TCTCTCCACGATCATCCTGCTCG	0.478													31	80	---	---	---	---					-	113699653	ATC	-	113699651	7	5	159	1	0	1	0	1	0	0	0	0	8132	333	12	0	541	0	KCNN2	5	113699651	In_Frame_Del	DEL	ATC	TCGA-CQ-7071-01A-12D-A30E-08	34666725	113699651	67215609	143	28658											
ADAMTS19	171019	broad.mit.edu	37	chr5	128862009	128862009	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaggtctagaaaaatagcaGaaagtggaagagggaaacga	19	5	13	4	1	1	3	0	0	1	3	1	6	1	5	0	3	2	1	0	3	8	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:128862009G>C	ENST00000274487.4	+	4	1073	c.928G>C	c.(928-930)Gaa>Caa	p.E310Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	310					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAAATAGCAGAAAGTGGAAG	0.358													14	38					0	0	0	0	C	128862009	G	C	128862009	3	2	159	1	0	0	0	0	1	0	0	0	264	943	33	2	942	2	ADAMTS19	5	128862009	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	15162358	128862009	52053251	144	28659											
FNIP1	96459	broad.mit.edu	37	chr5	131007718	131007718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgttctgtgtatcagactCtccagattggtccttggttg	6	16	10	9	0	3	2	1	0	2	2	5	2	4	2	2	2	0	3	2	2	1	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:131007718C>T	ENST00000307968.7	-	13	2334	c.2335G>A	c.(2335-2337)Gag>Aag	p.E779K	FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.E807K|FNIP1_ENST00000307954.8_Missense_Mutation_p.E762K	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GTATCAGACTCTCCAGATTGG	0.418													29	105					0	0	0	0	T	131007718	C	T	131007718	3	4	159	1	0	0	0	0	1	0	0	0	6020	922	32	2	1101	2	FNIP1	5	131007718	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2145709	131007718	49907542	145	28660											
PITX1	5307	broad.mit.edu	37	chr5	134364847	134364848	+	Frame_Shift_Ins	INS	-	-	A																															tggagagcggcgctggcgccINSaggctcttggcggcccagtt																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:134364847_134364848insA	ENST00000265340.7	-	3	982_983	c.566_567insT	c.(565-567)cgcfs	p.R189fs	PITX1_ENST00000506438.1_Frame_Shift_Ins_p.R189fs	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	189	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GCGCTGGCGCCAGGCTCTTGGC	0.629													20	72	---	---	---	---					A	134364848	-	A	134364847	7	5	159	1	0	1	1	0	0	0	0	0	12026	581	21	0	381	0	PITX1	5	134364847	Frame_Shift_Ins	INS	-	TCGA-CQ-7071-01A-12D-A30E-08	3357129	134364847	46550413	146	28661											
SPOCK1	6695	broad.mit.edu	37	chr5	136834061	136834061	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtggcgccggtactcaCgtctcgaaagcggttccagt	6	8	14	13	6	2	0	1	0	1	0	4	1	3	0	3	4	2	2	3	4	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:136834061C>T	ENST00000394945.1	-	2	356		c.e2+1		SPOCK1_ENST00000282223.7_Splice_Site	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1						cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCGGTACTCACGTCTCGAAAG	0.647													6	17					0	0	0	0	T	136834061	C	T	136834061	5	4	159	1	0	0	0	0	0	0	1	0	15169	550	19	1	1172	1	SPOCK1	5	136834061	Splice_Site	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2469214	136834061	44081199	147	28662											
ANKHD1	54882	broad.mit.edu	37	chr5	139781638	139781638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccgccccagctggggcctCggagccgcctccgccgggag	4	4	15	18	5	0	0	0	0	0	0	3	2	2	2	8	4	2	1	8	4	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:139781638C>T	ENST00000297183.6	+	1	210	c.86C>T	c.(85-87)tCg>tTg	p.S29L	ANKHD1_ENST00000394723.3_Missense_Mutation_p.S29L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S29L|ANKHD1_ENST00000394722.3_Missense_Mutation_p.S29L|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S29L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGGGCCTCGGAGCCGCCT	0.726													7	27					0	0	0	0	T	139781638	C	T	139781638	3	4	159	1	0	0	0	0	1	0	0	0	628	893	31	1	88	1	ANKHD1	5	139781638	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2947577	139781638	41133622	148	28663											
TMCO6	55374	broad.mit.edu	37	chr5	140021368	140021368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcaaaccttcatccggtCagtgtggatggtgtggtgga	9	10	14	8	1	2	0	2	0	0	0	3	2	3	2	2	5	2	1	2	5	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:140021368C>T	ENST00000511410.1	+	3	392	c.317C>T	c.(316-318)tCa>tTa	p.S106L	TMCO6_ENST00000252100.6_Intron|TMCO6_ENST00000394671.3_Intron|TMCO6_ENST00000537378.1_Intron|NDUFA2_ENST00000510680.1_Intron			Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	0					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCATCCGGTCAGTGTGGATG	0.597													18	43					0	0	0	0	T	140021368	C	T	140021368	3	4	159	1	0	0	0	0	1	0	0	0	16094	841	29	2		2	TMCO6	5	140021368	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	239730	140021368	40893892	149	28664											
PCDHA2	56146	broad.mit.edu	37	chr5	140175878	140175878	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaccaccagcgtgtccatCgaggtggccgacgtgaacga	9	5	13	14	5	0	1	0	1	0	0	2	4	1	1	5	2	2	0	5	2	1	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:140175878C>T	ENST00000526136.1	+	1	1329	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.I443I|PCDHA2_ENST00000520672.2_Silent_p.I443I	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGTCCATCGAGGTGGCCG	0.652													45	127					0	0	0	0	T	140175878	C	T	140175878	2	4	159	1	0	0	0	0	0	0	0	1	11595	874	31	1		1	PCDHA2	5	140175878	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	154510	140175878	40739382	150	28665											
PCDHGA12	26025	broad.mit.edu	37	chr5	140874379	140874379	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgttttctccacagcaagcCccgcccaacacggactggcg	8	7	9	17	3	1	0	0	0	1	0	2	1	1	1	4	2	3	2	4	2	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:140874379C>A	ENST00000252085.3	+	2	2572	c.2430C>A	c.(2428-2430)gcC>gcA	p.A810A	PCDHGB4_ENST00000519479.1_Silent_p.A801A|PCDHGB3_ENST00000576222.1_Silent_p.A807A|PCDHGA2_ENST00000394576.2_Silent_p.A810A|PCDHGA4_ENST00000571252.1_Silent_p.A809A|PCDHGB1_ENST00000523390.1_Silent_p.A805A|PCDHGB2_ENST00000522605.1_Silent_p.A809A|PCDHGA3_ENST00000253812.6_Silent_p.A810A|PCDHGA9_ENST00000573521.1_Silent_p.A810A|PCDHGB6_ENST00000520790.1_Silent_p.A808A|PCDHGA7_ENST00000518325.1_Silent_p.A810A|PCDHGA11_ENST00000518882.1_Silent_p.A628A|PCDHGA5_ENST00000518069.1_Silent_p.A809A|PCDHGA6_ENST00000517434.1_Silent_p.A810A|PCDHGA1_ENST00000517417.1_Silent_p.A809A|PCDHGA11_ENST00000398587.2_Silent_p.A813A|PCDHGB7_ENST00000398594.2_Silent_p.A807A|PCDHGA8_ENST00000398604.2_Silent_p.A810A|PCDHGA10_ENST00000398610.2_Silent_p.A814A|PCDHGC3_ENST00000308177.3_Silent_p.A812A|PCDHGC4_ENST00000306593.1_Silent_p.A816A|PCDHGC5_ENST00000252087.1_Silent_p.A822A	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGCAAGCCCCGCCCAACA	0.607													20	51					5.35356e-11	5.62763e-11	1	0	A	140874379	C	A	140874379	2	1	159	1	0	0	0	0	0	0	0	1	11624	610	22	4		4	PCDHGA12	5	140874379	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	698501	140874379	40040881	151	28666											
GNPDA1	10007	broad.mit.edu	37	chr5	141385883	141385883	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaactctccgggtggtctcGaggaaggcctgtggggccgt	5	9	17	10	3	2	0	0	0	2	0	4	2	2	1	3	6	1	1	3	6	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:141385883G>A	ENST00000508177.1	-	3	993	c.235C>T	c.(235-237)Cga>Tga	p.R79*	GNPDA1_ENST00000500692.2_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000503794.1_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000311337.6_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000513454.1_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000458112.2_Nonsense_Mutation_p.R45*			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	79					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGTCTCGAGGAAGGCCT	0.537													20	62					0	0	0	0	A	141385883	G	A	141385883	4	1	159	1	0	0	0	0	0	1	0	0	6593	1066	37	1	650	1	GNPDA1	5	141385883	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	511504	141385883	39529377	152	28667											
ARHGAP26	23092	broad.mit.edu	37	chr5	142513625	142513625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagcccccgtcctgcagcGagaggcccctgacgctcttc	6	6	10	19	3	1	2	0	1	1	1	3	3	2	2	6	1	3	2	6	1	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:142513625G>A	ENST00000378004.3	+	19	2147	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E598K	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	598	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCCTGCAGCGAGAGGCCCCT	0.562													53	111					0	0	0	0	A	142513625	G	A	142513625	3	1	159	1	0	0	0	0	1	0	0	0	877	1059	37	1	1866	1	ARHGAP26	5	142513625	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1127742	142513625	38401635	153	28668											
TCOF1	6949	broad.mit.edu	37	chr5	149771523	149771523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctttcaccgaattaggttGacagtgctgtgggaacactc	9	12	10	10	1	1	1	1	1	0	0	3	3	2	2	2	2	2	2	2	2	3	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:149771523G>A	ENST00000451292.1	+	22	3520	c.3412G>A	c.(3412-3414)Gac>Aac	p.D1138N	TCOF1_ENST00000504761.2_Missense_Mutation_p.D1101N|TCOF1_ENST00000439160.2_Missense_Mutation_p.D1063N|TCOF1_ENST00000323668.7_Missense_Mutation_p.D1024N|TCOF1_ENST00000445265.2_Missense_Mutation_p.D1024N|TCOF1_ENST00000513346.1_Missense_Mutation_p.D1100N|TCOF1_ENST00000377797.3_Missense_Mutation_p.D1101N			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1101					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTAGGTTGACAGTGCTGT	0.507													15	35					0	0	0	0	A	149771523	G	A	149771523	3	1	159	1	0	0	0	0	1	0	0	0	15802	1290	45	2	3405	2	TCOF1	5	149771523	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	7257898	149771523	31143737	154	28669											
UNC5A	90249	broad.mit.edu	37	chr5	176301330	176301330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaccacctaccagggcagtCtctgtccccggcaggatggg	7	6	12	16	1	1	0	0	0	1	0	3	1	2	1	6	4	1	2	6	4	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:176301330C>T	ENST00000329542.4	+	8	1415	c.1141C>T	c.(1141-1143)Ctc>Ttc	p.L381F	UNC5A_ENST00000261961.3_Missense_Mutation_p.L341F	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	381					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGGCAGTCTCTGTCCCCG	0.642													49	150					0	0	0	0	T	176301330	C	T	176301330	3	4	159	1	0	0	0	0	1	0	0	0	17087	913	32	2	1171	2	UNC5A	5	176301330	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	26529807	176301330	4613930	155	28670											
N4BP3	23138	broad.mit.edu	37	chr5	177546744	177546744	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagggcttgggccagcgtGagttcctcagctacctgcac	7	8	14	12	1	1	1	1	1	0	0	2	2	2	2	3	3	4	4	3	3	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:177546744G>C	ENST00000274605.5	+	2	519	c.160G>C	c.(160-162)Gag>Cag	p.E54Q		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	54						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCCAGCGTGAGTTCCTCAG	0.657													40	105					0	0	0	0	C	177546744	G	C	177546744	3	2	159	1	0	0	0	0	1	0	0	0	10183	1291	45	2	162	2	N4BP3	5	177546744	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1245414	177546744	3368516	156	28671											
MGAT4B	11282	broad.mit.edu	37	chr5	179225171	179225171	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcccagcctcacctcgctCagaatcacccacacagggga	10	5	8	18	1	3	1	3	0	0	1	4	2	3	2	4	2	2	1	4	2	1	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:179225171C>G	ENST00000337755.5	-	13	2548	c.1662G>C	c.(1660-1662)ctG>ctC	p.L554L	MGAT4B_ENST00000292591.7_Silent_p.L539L	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	539					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCACCTCGCTCAGAATCACCC	0.677													3	11					0	0	0	0	G	179225171	C	G	179225171	2	3	159	1	0	0	0	0	0	0	0	1	9615	813	29	2		2	MGAT4B	5	179225171	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1678427	179225171	1690089	157	28672											
BTNL3	10917	broad.mit.edu	37	chr5	180432442	180432442	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgcctcactctgagaagaGatttacaaggaagagtgtgg	12	9	14	6	0	2	3	1	1	1	3	2	6	2	4	1	3	2	0	1	3	4	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:180432442G>C	ENST00000342868.6	+	8	1155	c.971G>C	c.(970-972)aGa>aCa	p.R324T		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	324	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TCTGAGAAGAGATTTACAAGG	0.512													33	88					0	0	0	0	C	180432442	G	C	180432442	3	2	159	1	0	0	0	0	1	0	0	0	1575	942	33	2	1001	2	BTNL3	5	180432442	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1207271	180432442	482818	158	28673											
KIF13A	63971	broad.mit.edu	37	chr6	17772181	17772181	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttccagggctatccttttCttatgctcctcttttacagg	5	17	7	12	0	2	0	0	0	2	0	5	0	5	0	3	2	2	3	3	2	3	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:17772181C>T	ENST00000378814.5	-	36	4394	c.4395G>A	c.(4393-4395)aaG>aaA	p.K1465K	KIF13A_ENST00000259711.6_Silent_p.K1478K|KIF13A_ENST00000378816.5_Silent_p.K1478K|KIF13A_ENST00000378826.2_Silent_p.K1478K|KIF13A_ENST00000378843.2_Silent_p.K1465K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1478					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTATCCTTTTCTTATGCTCCT	0.463													107	217					0	0	0	0	T	17772181	C	T	17772181	2	4	159	1	0	0	0	0	0	0	0	1	8325	912	32	2		2	KIF13A	6	17772181	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08		17772181	153342886	159	28674											
HIST1H2BN	8341	broad.mit.edu	37	chr6	27806507	27806509	+	In_Frame_Del	DEL	AGA	AGA	-																															gaaggcagtgacaaaggcccAgaagaaggacggcaagaagc																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:27806507_27806509delAGA	ENST00000606613.1	+	1	129_131	c.68_70delAGA	c.(67-72)cag>c	p.QK23del	HIST1H2BN_ENST00000396980.3_In_Frame_Del_p.QK23del			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	23					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						ACAAAGGCCCAGAAGAAGGACGG	0.581													64	194	---	---	---	---					-	27806509	AGA	-	27806507	7	5	159	1	0	1	0	1	0	0	0	0	7203	188	7	0	70	0	HIST1H2BN	6	27806507	In_Frame_Del	DEL	AGA	TCGA-CQ-7071-01A-12D-A30E-08	10034326	27806507	143308560	160	28675											
PGBD1	84547	broad.mit.edu	37	chr6	28268867	28268867	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattctggacttttgaatctCaagagcgaaaagttgaaccc	13	11	9	8	1	2	3	1	2	2	1	3	6	2	4	1	1	2	1	1	1	5	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:28268867C>G	ENST00000405948.2	+	7	1656	c.1236C>G	c.(1234-1236)ctC>ctG	p.L412L	PGBD1_ENST00000259883.3_Silent_p.L412L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	412					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TTTTGAATCTCAAGAGCGAAA	0.348													40	77					0	0	0	0	G	28268867	C	G	28268867	2	3	159	1	0	0	0	0	0	0	0	1	11852	813	29	2		2	PGBD1	6	28268867	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	462360	28268867	142846200	161	28676											
HLA-A	3105	broad.mit.edu	37	chr6	29912176	29912176	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccctcaccctgagatggggTaaggagggagatgggggtgt	8	7	18	8	0	1	2	1	1	0	2	1	5	1	3	3	6	0	1	3	6	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:29912176T>C	ENST00000396634.1	+	6	1236		c.e6+2		HLA-A_ENST00000376802.2_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site			P30443	1A01_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGAGATGGGGTAAGGAGGGAG	0.597									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			38	32					0	0	0	0	C	29912176	T	C	29912176	5	2	159	1	0	0	0	0	0	0	1	0	7245	1652	57	5	911	5	HLA-A	6	29912176	Splice_Site	SNP	T	TCGA-CQ-7071-01A-12D-A30E-08	1643309	29912176	141202891	162	28677											
PPP1R10	5514	broad.mit.edu	37	chr6	30572460	30572460	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggtgctggttctggggaaGaaggtttggctgtgcttggt	4	14	19	4	0	1	1	0	0	1	1	1	2	1	2	0	7	2	5	0	7	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:30572460G>C	ENST00000376511.2	-	12	1559	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	336	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTCTGGGGAAGAAGGTTTGGC	0.527													95	253					0	0	0	0	C	30572460	G	C	30572460	3	2	159	1	0	0	0	0	1	0	0	0	12428	942	33	2	1851	2	PPP1R10	6	30572460	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	660284	30572460	140542607	163	28678											
HLA-B	3106	broad.mit.edu	37	chr6	31324681	31324681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cactgagatgaagcggggctCcccgcggccgggccgggaca	7	3	17	14	5	0	2	0	2	0	1	1	4	1	3	4	5	1	1	4	5	1	0	rs137854653		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:31324681C>T	ENST00000412585.2	-	2	155	c.127G>A	c.(127-129)Gag>Aag	p.E43K		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AAGCGGGGCTCCCCGCGGCCG	0.701									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				40	17					0	0	0	0	T	31324681	C	T	31324681	3	4	159	1	0	0	0	0	1	0	0	0	7246	864	30	2	985	2	HLA-B	6	31324681	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	752221	31324681	139790386	164	28679											
HLA-B	3106	broad.mit.edu	37	chr6	31324862	31324862	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccctcccgacccgcactcaCcggcccaggtctcggtcagg	5	6	10	20	4	3	0	2	0	1	0	6	1	5	0	5	4	0	1	5	4	0	0	rs45624240		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:31324862C>G	ENST00000412585.2	-	1	102		c.e1+1			NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CCCGCACTCACCGGCCCAGGT	0.731									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				24	10					0	0	0	0	G	31324862	C	G	31324862	5	3	159	1	0	0	0	0	0	0	1	0	7246	521	18	4	1042	4	HLA-B	6	31324862	Splice_Site	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	181	31324862	139790205	165	28680											
TNXB	7148	broad.mit.edu	37	chr6	32029484	32029484	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttctgtggggctgggggtCtcttcctctgcagctgagaa	4	12	16	9	0	3	1	0	1	3	1	5	2	4	1	1	5	2	4	1	5	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:32029484C>G	ENST00000375244.3	-	21	7383	c.7182G>C	c.(7180-7182)gaG>gaC	p.E2394D	TNXB_ENST00000375247.2_Missense_Mutation_p.E2394D			P22105	TENX_HUMAN	tenascin XB	2454	Fibronectin type-III 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCTGGGGGTCTCTTCCTCTG	0.617													29	78					0	0	0	0	G	32029484	C	G	32029484	3	3	159	1	0	0	0	0	1	0	0	0	16440	912	32	2	7627	2	TNXB	6	32029484	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	704622	32029484	139085583	166	28681											
TNXB	7148	broad.mit.edu	37	chr6	32046848	32046848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaccgggcccacgcgctgcCcctcgtggaggccgtacagg	6	4	14	17	5	0	0	0	0	0	0	1	1	0	1	5	4	2	2	5	4	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:32046848C>T	ENST00000375244.3	-	11	4538	c.4337G>A	c.(4336-4338)gGg>gAg	p.G1446E	TNXB_ENST00000375247.2_Missense_Mutation_p.G1446E			P22105	TENX_HUMAN	tenascin XB	1533					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGCGCTGCCCCTCGTGGAG	0.687													55	24					0	0	0	0	T	32046848	C	T	32046848	3	4	159	1	0	0	0	0	1	0	0	0	16440	623	22	4	10512	4	TNXB	6	32046848	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	17364	32046848	139068219	167	28682											
EGFL8	80864	broad.mit.edu	37	chr6	32133980	32133980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgtgcactctcttaggcgGattctccttcctcctgctac	4	14	8	15	1	2	0	0	0	2	0	6	1	4	1	3	2	3	3	3	2	2	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:32133980G>A	ENST00000395512.1	+	2	143	c.38G>A	c.(37-39)gGa>gAa	p.G13E	PPT2-EGFL8_ENST00000422437.1_3'UTR|PPT2_ENST00000437001.2_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.G13E|PPT2-EGFL8_ENST00000453656.2_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	13						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CTCTTAGGCGGATTCTCCTTC	0.597													23	43					0	0	0	0	A	32133980	G	A	32133980	3	1	159	1	0	0	0	0	1	0	0	0	5001	1174	41	2	40	2	EGFL8	6	32133980	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	87132	32133980	138981087	168	28683											
SLC39A7	7922	broad.mit.edu	37	chr6	33170440	33170440	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtacccaaagatgggccagtGagacctcagaacgctgaaga	14	5	12	10	1	1	5	1	2	0	4	1	6	1	5	3	1	2	2	3	1	4	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:33170440G>C	ENST00000374677.3	+	5	1276	c.903G>C	c.(901-903)gtG>gtC	p.V301V	SLC39A7_ENST00000374675.3_Silent_p.V301V|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	301						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ATGGGCCAGTGAGACCTCAGA	0.478													15	33					0	0	0	0	C	33170440	G	C	33170440	2	2	159	1	0	0	0	0	0	0	0	1	14711	1277	45	2		2	SLC39A7	6	33170440	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1036460	33170440	137944627	169	28684											
ZBTB9	221504	broad.mit.edu	37	chr6	33422991	33422991	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtctctgctggaatctctGaaccgccacaggctagaggg	8	9	12	12	2	2	2	0	1	2	1	5	3	2	3	2	3	2	2	2	3	3	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:33422991G>A	ENST00000395064.2	+	2	382	c.114G>A	c.(112-114)ctG>ctA	p.L38L		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGGAATCTCTGAACCGCCACA	0.587													44	138					0	0	0	0	A	33422991	G	A	33422991	2	1	159	1	0	0	0	0	0	0	0	1	17653	1277	45	2		2	ZBTB9	6	33422991	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	252551	33422991	137692076	170	28685											
C6orf106	64771	broad.mit.edu	37	chr6	34574664	34574664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacccacctccacactgaGaatcacccagatgacatctg	12	7	5	17	0	2	3	1	2	1	2	4	4	4	3	5	0	0	0	5	0	1	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:34574664G>A	ENST00000374023.3	-	4	772	c.529C>T	c.(529-531)Ctc>Ttc	p.L177F	C6orf106_ENST00000374021.1_Missense_Mutation_p.L103F|C6orf106_ENST00000374026.3_Missense_Mutation_p.L111F	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	177										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						TCCACACTGAGAATCACCCAG	0.453													35	35					0	0	0	0	A	34574664	G	A	34574664	3	1	159	1	0	0	0	0	1	0	0	0	2340	942	33	2	375	2	C6orf106	6	34574664	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1151673	34574664	136540403	171	28686											
C6orf222	389384	broad.mit.edu	37	chr6	36291094	36291094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgctggaggtggagggccGatggccaccaacacacaggg	9	4	17	11	1	0	0	0	0	0	0	0	3	0	2	3	6	2	2	3	6	1	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:36291094G>A	ENST00000437635.2	-	8	1624	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	483								p.R483W(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GTGGAGGGCCGATGGCCACCA	0.647													38	93					0	0	0	0	A	36291094	G	A	36291094	3	1	159	1	0	0	0	0	1	0	0	0	2377	1057	37	1	531	1	C6orf222	6	36291094	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1716430	36291094	134823973	172	28687											
MDGA1	266727	broad.mit.edu	37	chr6	37606334	37606334	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagggcccactggggctGatgggcacatgggcctgctg	6	7	18	10	0	0	1	0	1	0	0	0	2	0	2	2	6	1	3	2	6	1	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:37606334G>A	ENST00000434837.2	-	15	3824	c.2646C>T	c.(2644-2646)atC>atT	p.I882I	MDGA1_ENST00000297153.7_Silent_p.I886I|MDGA1_ENST00000505425.1_Silent_p.I882I	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	882	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CACTGGGGCTGATGGGCACAT	0.627													24	68					0	0	0	0	A	37606334	G	A	37606334	2	1	159	1	0	0	0	0	0	0	0	1	9475	1280	45	2		2	MDGA1	6	37606334	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1315240	37606334	133508733	173	28688											
TDRD6	221400	broad.mit.edu	37	chr6	46660792	46660792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcagggtttaacatttcaGaaggattatgttctcaagag	12	14	9	6	0	3	2	3	0	2	2	5	3	3	3	0	2	1	2	0	2	4	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:46660792G>C	ENST00000544460.1	+	1	5181	c.4927G>C	c.(4927-4929)Gaa>Caa	p.E1643Q	TDRD6_ENST00000316081.6_Missense_Mutation_p.E1643Q	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1643					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TAACATTTCAGAAGGATTATG	0.403													21	84					0	0	0	0	C	46660792	G	C	46660792	3	2	159	1	0	0	0	0	1	0	0	0	15828	943	33	2	4929	2	TDRD6	6	46660792	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	9054458	46660792	124454275	174	28689											
PKHD1	5314	broad.mit.edu	37	chr6	51890958	51890958	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgctgaagcctattcctGagatgctgaggatggtccct	7	11	11	12	0	0	3	0	3	0	1	2	5	2	4	4	2	3	2	4	2	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:51890958G>C	ENST00000371117.3	-	32	3925	c.3650C>G	c.(3649-3651)tCa>tGa	p.S1217*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S1217*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1217	IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCCTATTCCTGAGATGCTGAG	0.458													22	50					0	0	0	0	C	51890958	G	C	51890958	4	2	159	1	0	0	0	0	0	1	0	0	12043	1294	45	2	8757	2	PKHD1	6	51890958	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	5230166	51890958	119224109	175	28690											
KLHL31	401265	broad.mit.edu	37	chr6	53519582	53519582	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaacactcatctcccgtatCagaaaatcactgcacatctt	13	11	3	14	1	6	1	4	0	2	1	7	1	6	1	1	0	2	2	1	0	4	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:53519582C>T	ENST00000370905.3	-	2	629	c.489G>A	c.(487-489)ctG>ctA	p.L163L	KLHL31_ENST00000407079.1_Silent_p.L163L	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TCTCCCGTATCAGAAAATCAC	0.383													18	86					0	0	0	0	T	53519582	C	T	53519582	2	4	159	1	0	0	0	0	0	0	0	1	8437	813	29	2		2	KLHL31	6	53519582	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1628624	53519582	117595485	176	28691											
KCNQ5	56479	broad.mit.edu	37	chr6	73787168	73787168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcatggtgcgcatggaccGaaggggaggcacttggaaat	10	6	16	9	3	0	0	0	0	0	0	0	4	0	3	2	6	1	3	2	6	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:73787168G>A	ENST00000342056.2	+	4	1138	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	KCNQ5_ENST00000403813.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R247Q|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R247Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R247Q|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R247Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R247Q	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	247					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CGCATGGACCGAAGGGGAGGC	0.428													11	44					0	0	0	0	A	73787168	G	A	73787168	3	1	159	1	0	0	0	0	1	0	0	0	8139	1058	37	1	754	1	KCNQ5	6	73787168	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	20267586	73787168	97327899	177	28692											
DOPEY1	23033	broad.mit.edu	37	chr6	83850048	83850048	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctttggagcatactgcatCaagctgattcttcagaaaag	12	12	9	8	0	3	2	2	1	1	1	3	3	3	3	0	1	5	4	0	1	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:83850048C>T	ENST00000349129.2	+	23	5601	c.5341C>T	c.(5341-5343)Caa>Taa	p.Q1781*	DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q1762*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q1772*|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1781			Q -> L (in dbSNP:rs9444039).		protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CATACTGCATCAAGCTGATTC	0.408													44	77					0	0	0	0	T	83850048	C	T	83850048	4	4	159	1	0	0	0	0	0	1	0	0	4743	827	29	2	5423	2	DOPEY1	6	83850048	Nonsense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	10062880	83850048	87265019	178	28693											
MDN1	23195	broad.mit.edu	37	chr6	90403841	90403841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgacttcatcttccaggtctCttccagtctgcagctgggat	6	13	9	13	1	4	0	1	0	3	0	7	2	6	1	2	2	2	2	2	2	0	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:90403841C>T	ENST00000369393.3	-	62	9948	c.9833G>A	c.(9832-9834)aGa>aAa	p.R3278K	MDN1_ENST00000428876.1_Missense_Mutation_p.R3278K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3278					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCCAGGTCTCTTCCAGTCTG	0.468													11	48					0	0	0	0	T	90403841	C	T	90403841	3	4	159	1	0	0	0	0	1	0	0	0	9484	913	32	2	7121	2	MDN1	6	90403841	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	6553793	90403841	80711226	179	28694											
GJA10	84694	broad.mit.edu	37	chr6	90604393	90604393	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatatctgttatgatgatgCattccctatctctttgatca	10	17	5	9	0	3	3	1	3	2	0	5	3	4	3	1	0	1	2	1	0	4	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:90604393C>A	ENST00000369352.1	+	1	206	c.206C>A	c.(205-207)gCa>gAa	p.A69E		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	69					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TATGATGATGCATTCCCTATC	0.473													9	38					6.40141e-05	6.47499e-05	1	0	A	90604393	C	A	90604393	3	1	159	1	0	0	0	0	1	0	0	0	6452	710	25	4	208	4	GJA10	6	90604393	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	200552	90604393	80510674	180	28695											
USP45	85015	broad.mit.edu	37	chr6	99894132	99894132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttcagattctgaaggctCactgtcagcatcaacattgc	11	12	7	11	0	5	2	4	1	1	1	5	2	5	2	0	1	3	2	0	1	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:99894132C>T	ENST00000327681.6	-	14	2048	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	USP45_ENST00000539675.1_Intron|USP45_ENST00000500704.2_Missense_Mutation_p.E506K|USP45_ENST00000369233.2_Missense_Mutation_p.E458K|USP45_ENST00000392738.2_Missense_Mutation_p.E186K	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	506					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TCTGAAGGCTCACTGTCAGCA	0.493													15	43					0	0	0	0	T	99894132	C	T	99894132	3	4	159	1	0	0	0	0	1	0	0	0	17172	835	29	2	948	2	USP45	6	99894132	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	9289739	99894132	71220935	181	28696											
HACE1	57531	broad.mit.edu	37	chr6	105239524	105239524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgagcatcataattgctaGagaggctgaaaataaaaatt	17	12	8	4	0	1	3	1	2	0	1	1	4	1	3	0	1	2	3	0	1	7	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:105239524G>A	ENST00000262903.4	-	11	1205	c.929C>T	c.(928-930)tCt>tTt	p.S310F	HACE1_ENST00000369125.2_Missense_Mutation_p.S310F	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	310					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ATAATTGCTAGAGAGGCTGAA	0.313													26	95					0	0	0	0	A	105239524	G	A	105239524	3	1	159	1	0	0	0	0	1	0	0	0	6990	942	33	2	1856	2	HACE1	6	105239524	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	5345392	105239524	65875543	182	28697											
BEND3	57673	broad.mit.edu	37	chr6	107390474	107390474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccggcgccggcagcgctCatccagtttgcccacgaact	6	7	11	17	5	1	0	1	0	0	0	3	1	3	0	4	2	3	3	4	2	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:107390474C>T	ENST00000429433.2	-	5	2570	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	BEND3_ENST00000369042.1_Missense_Mutation_p.E641K	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	641	BEN 3.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CGGCAGCGCTCATCCAGTTTG	0.652													16	46					0	0	0	0	T	107390474	C	T	107390474	3	4	159	1	0	0	0	0	1	0	0	0	1403	835	29	2	569	2	BEND3	6	107390474	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2150950	107390474	63724593	183	28698											
REV3L	5980	broad.mit.edu	37	chr6	111621277	111621277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggacaattctctatttactCgggagagtttgaaaagtact	12	14	9	6	1	1	2	0	1	1	1	3	4	1	3	0	2	2	2	0	2	6	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:111621277C>T	ENST00000435970.1	-	34	9917	c.9101G>A	c.(9100-9102)cGa>cAa	p.R3034Q	REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368805.1_Missense_Mutation_p.R3112Q|REV3L_ENST00000358835.3_Missense_Mutation_p.R3112Q|REV3L_ENST00000368802.3_Missense_Mutation_p.R3112Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3112					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTATTTACTCGGGAGAGTTT	0.388								DNA polymerases (catalytic subunits)					29	77					0	0	0	0	T	111621277	C	T	111621277	3	4	159	1	0	0	0	0	1	0	0	0	13322	884	31	1	61	1	REV3L	6	111621277	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	4230803	111621277	59493790	184	28699											
REV3L	5980	broad.mit.edu	37	chr6	111696154	111696154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagccatgatttcttcagctCttggatctgtgggagaccag	8	12	11	10	0	4	2	1	1	3	1	4	4	4	3	2	2	2	1	2	2	0	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:111696154C>G	ENST00000435970.1	-	15	3986	c.3170G>C	c.(3169-3171)aGa>aCa	p.R1057T	REV3L_ENST00000368805.1_Missense_Mutation_p.R1135T|REV3L_ENST00000358835.3_Missense_Mutation_p.R1135T|REV3L_ENST00000368802.3_Missense_Mutation_p.R1135T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1135					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCTTCAGCTCTTGGATCTGT	0.388								DNA polymerases (catalytic subunits)					33	102					0	0	0	0	G	111696154	C	G	111696154	3	3	159	1	0	0	0	0	1	0	0	0	13322	913	32	2	6068	2	REV3L	6	111696154	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	74877	111696154	59418913	185	28700											
RWDD1	51389	broad.mit.edu	37	chr6	116910017	116910017	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacacaggctgaagaaaatCttggtatggtgatgattttt	12	15	10	4	0	1	4	0	3	1	1	1	4	1	4	0	3	1	2	0	3	5	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:116910017C>G	ENST00000466444.2	+	4	499	c.283C>G	c.(283-285)Ctt>Gtt	p.L95V	RWDD1_ENST00000392526.1_5'UTR|RWDD1_ENST00000487832.2_5'UTR	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	95	RWD.						protein binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		TGAAGAAAATCTTGGTATGGT	0.289													22	40					0	0	0	0	G	116910017	C	G	116910017	3	3	159	1	0	0	0	0	1	0	0	0	13839	913	32	2	297	2	RWDD1	6	116910017	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5213863	116910017	54205050	186	28701											
CLVS2	134829	broad.mit.edu	37	chr6	123319300	123319300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcctttttgctgccaattgGgatcagagcaggtaaatcct	9	13	10	9	0	1	1	1	0	0	1	3	2	3	2	3	2	3	3	3	2	3	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:123319300G>T	ENST00000275162.4	+	2	1713	c.378G>T	c.(376-378)tgG>tgT	p.W126C	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	126	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.W126C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CTGCCAATTGGGATCAGAGCA	0.468													19	39					2.94398e-08	3.05817e-08	1	0	T	123319300	G	T	123319300	3	4	159	1	0	0	0	0	1	0	0	0	3602	1241	43	4	380	4	CLVS2	6	123319300	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	6409283	123319300	47795767	187	28702											
LAMA2	3908	broad.mit.edu	37	chr6	129785590	129785590	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctgatgtatcttgccacacGagacctggtaaagatcatat	12	12	8	9	1	3	3	1	1	2	2	3	4	3	3	2	1	1	2	2	1	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:129785590G>C	ENST00000421865.2	+	50	7197	c.7148G>C	c.(7147-7149)cGa>cCa	p.R2383P		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2383	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTGCCACACGAGACCTGGTA	0.408													50	140					0	0	0	0	C	129785590	G	C	129785590	3	2	159	1	0	0	0	0	1	0	0	0	8659	1058	37	3	7346	3	LAMA2	6	129785590	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	6466290	129785590	41329477	188	28703											
TNFAIP3	7128	broad.mit.edu	37	chr6	138201248	138201248	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcagtcccacagcgtcCaggttccagaacaccattcc	12	7	7	15	1	1	1	1	0	0	1	5	1	5	1	5	1	2	1	5	1	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:138201248C>T	ENST00000237289.4	+	8	2013	c.1947C>T	c.(1945-1947)tcC>tcT	p.S649S		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	649	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CCACAGCGTCCAGGTTCCAGA	0.517			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								21	56					0	0	0	0	T	138201248	C	T	138201248	2	4	159	1	0	0	0	0	0	0	0	1	16368	581	21	4		4	TNFAIP3	6	138201248	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	8415658	138201248	32913819	189	28704											
UTRN	7402	broad.mit.edu	37	chr6	144875972	144875972	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaaatatgaggctcgactCtatattcttcagcaagcccg	13	10	8	10	2	3	2	1	1	2	1	4	3	3	2	1	1	2	2	1	1	6	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:144875972C>G	ENST00000367545.3	+	48	7077	c.7077C>G	c.(7075-7077)ctC>ctG	p.L2359L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2359					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGGCTCGACTCTATATTCTTC	0.418													11	48					0	0	0	0	G	144875972	C	G	144875972	2	3	159	1	0	0	0	0	0	0	0	1	17199	900	32	2		2	UTRN	6	144875972	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	6674724	144875972	26239095	190	28705											
SYNE1	23345	broad.mit.edu	37	chr6	152679603	152679603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttgccccaaccaaacttCaaatgcctttaggtctctct	9	14	4	14	0	4	0	1	0	3	0	5	0	4	0	4	1	4	0	4	1	4	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:152679603C>T	ENST00000367255.5	-	66	11114	c.10513G>A	c.(10513-10515)Gaa>Aaa	p.E3505K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E3476K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3505K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3512K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3512K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3505					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACCAAACTTCAAATGCCTTT	0.418										HNSCC(10;0.0054)			44	90					0	0	0	0	T	152679603	C	T	152679603	3	4	159	1	0	0	0	0	1	0	0	0	15536	835	29	2	16277	2	SYNE1	6	152679603	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	7803631	152679603	18435464	191	28706											
TULP4	56995	broad.mit.edu	37	chr6	158923702	158923702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaagatggcccagctggccGacagcccgcgggcccccctg	6	4	13	18	3	1	1	1	0	0	1	1	2	1	1	6	3	2	1	6	3	1	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:158923702G>A	ENST00000367097.3	+	13	4364	c.3007G>A	c.(3007-3009)Gac>Aac	p.D1003N	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1003					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCAGCTGGCCGACAGCCCGCG	0.721													6	17					0	0	0	0	A	158923702	G	A	158923702	3	1	159	1	0	0	0	0	1	0	0	0	16872	1058	37	1	3057	1	TULP4	6	158923702	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	6244099	158923702	12191365	192	28707											
LPA	4018	broad.mit.edu	37	chr6	160952780	160952780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attaattatttctcatcattCcctcaatccaagtaacaaac	15	14	1	11	0	3	0	3	0	1	0	6	0	5	0	2	0	2	1	2	0	6	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:160952780C>T	ENST00000447678.1	-	40	6224	c.6104G>A	c.(6103-6105)gGa>gAa	p.G2035E	LPA_ENST00000484276.1_Intron|LPA_ENST00000316300.5_Missense_Mutation_p.G2035E	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4543	Kringle 18.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCTCATCATTCCCTCAATCCA	0.428													18	69					0	0	0	0	T	160952780	C	T	160952780	3	4	159	1	0	0	0	0	1	0	0	0	8967	855	30	2	22	2	LPA	6	160952780	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2029078	160952780	10162287	193	28708											
TTLL2	83887	broad.mit.edu	37	chr6	167753592	167753592	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcaatgatccatttttaGaaaaaacctcatttgatggc	13	15	5	8	0	2	3	2	2	1	1	4	3	3	3	2	1	1	0	2	1	5	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:167753592G>C	ENST00000239587.5	+	3	292		c.e3-1			NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2						protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCCATTTTTAGAAAAAACCTC	0.507													23	63					0	0	0	0	C	167753592	G	C	167753592	5	2	159	1	0	0	0	0	0	0	1	0	16823	956	33	2	214	2	TTLL2	6	167753592	Splice_Site	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	6800812	167753592	3361475	194	28709											
TTLL2	83887	broad.mit.edu	37	chr6	167753614	167753614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaaacctcatttgatggcgGaagatgaaccttcaggggcc	13	8	11	9	1	2	3	2	2	0	1	2	4	2	4	3	4	2	0	3	4	4	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:167753614G>A	ENST00000239587.5	+	3	314	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	76					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTTGATGGCGGAAGATGAACC	0.502													20	66					0	0	0	0	A	167753614	G	A	167753614	3	1	159	1	0	0	0	0	1	0	0	0	16823	1175	41	2	236	2	TTLL2	6	167753614	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	22	167753614	3361453	195	28710											
CHST12	55501	broad.mit.edu	37	chr7	2472855	2472855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcctgctgcaccgcggtgCgccctaccgcgacccgctgc	5	5	12	19	6	0	0	0	0	0	0	0	1	0	0	5	1	6	3	5	1	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:2472855C>T	ENST00000258711.6	+	2	716	c.581C>T	c.(580-582)gCg>gTg	p.A194V		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	194					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CACCGCGGTGCGCCCTACCGC	0.677													30	67					0	0	0	0	T	2472855	C	T	2472855	3	4	159	1	0	0	0	0	1	0	0	0	3429	768	27	1	583	1	CHST12	7	2472855	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08		2472855	156665808	196	28711											
RBAK	57786	broad.mit.edu	37	chr7	5104433	5104433	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacctcactatacattataGaagtcatttagaagagaaac	18	11	5	7	0	2	3	2	0	0	3	2	4	2	3	1	0	3	0	1	0	9	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:5104433G>C	ENST00000396912.1	+	5	1865	c.1346G>C	c.(1345-1347)aGa>aCa	p.R449T	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.R449T	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	449	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATACATTATAGAAGTCATTTA	0.398													19	50					0	0	0	0	C	5104433	G	C	5104433	3	2	159	1	0	0	0	0	1	0	0	0	13182	942	33	2	1360	2	RBAK	7	5104433	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	2631578	5104433	154034230	197	28712											
PMS2	5395	broad.mit.edu	37	chr7	6045564	6045564	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagactgttttctactaacTcctttaccgcagtgcttaga	9	14	6	12	1	1	2	0	0	1	2	2	2	2	2	3	0	4	3	3	0	4	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:6045564T>A	ENST00000265849.7	-	2	227	c.122A>T	c.(121-123)gAg>gTg	p.E41V	PMS2_ENST00000406569.3_Missense_Mutation_p.E41V|PMS2_ENST00000382321.4_Missense_Mutation_p.E41V|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	41					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTCTACTAACTCCTTTACCGC	0.433			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				101	276					0	0	0	0	A	6045564	T	A	6045564	3	1	159	1	0	0	0	0	1	0	0	0	12215	1551	54	5	2522	5	PMS2	7	6045564	Missense_Mutation	SNP	T	TCGA-CQ-7071-01A-12D-A30E-08	941131	6045564	153093099	198	28713											
COL28A1	340267	broad.mit.edu	37	chr7	7412996	7412996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttcaaattagccaccttCtccaccttatggctatagtt	9	15	5	12	0	2	0	1	0	1	0	3	0	2	0	4	1	2	3	4	1	5	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:7412996C>T	ENST00000399429.3	-	32	2681	c.2541G>A	c.(2539-2541)gaG>gaA	p.E847E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	847	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TAGCCACCTTCTCCACCTTAT	0.483													26	59					0	0	0	0	T	7412996	C	T	7412996	2	4	159	1	0	0	0	0	0	0	0	1	3716	912	32	2		2	COL28A1	7	7412996	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1367432	7412996	151725667	199	28714											
ETV1	2115	broad.mit.edu	37	chr7	13975371	13975371	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctatctggtatggactgCgatggagggaggtgagctgg	7	10	18	6	1	1	1	0	1	1	0	1	5	1	4	0	6	3	3	0	6	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:13975371C>T	ENST00000343495.5	-	7	1200	c.462G>A	c.(460-462)tcG>tcA	p.S154S	ETV1_ENST00000405358.4_Silent_p.S186S|ETV1_ENST00000420159.2_Silent_p.S114S|ETV1_ENST00000242066.5_Silent_p.S154S|ETV1_ENST00000405218.2_Silent_p.S172S|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Silent_p.S154S|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000430479.1_Silent_p.S172S|ETV1_ENST00000403527.1_Silent_p.S132S|ETV1_ENST00000405192.2_Silent_p.S172S			P50549	ETV1_HUMAN	ets variant 1	172					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTATGGACTGCGATGGAGGGA	0.498			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								4	161					0	0	0	0	T	13975371	C	T	13975371	2	4	159	1	0	0	0	0	0	0	0	1	5315	755	27	1		1	ETV1	7	13975371	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	6562375	13975371	145163292	200	28715											
ANLN	54443	broad.mit.edu	37	chr7	36462396	36462396	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctaaaagcagattttgtCtgcagtacggttcagaaacc	12	11	8	10	1	3	2	1	0	2	2	3	2	3	2	2	1	4	4	2	1	4	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:36462396C>G	ENST00000265748.2	+	14	2675	c.2454C>G	c.(2452-2454)gtC>gtG	p.V818V	ANLN_ENST00000396068.2_Silent_p.V781V	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	818	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGATTTTGTCTGCAGTACGG	0.388													36	105					0	0	0	0	G	36462396	C	G	36462396	2	3	159	1	0	0	0	0	0	0	0	1	693	900	32	2		2	ANLN	7	36462396	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	22487025	36462396	122676267	201	28716											
PKD1L1	168507	broad.mit.edu	37	chr7	47869116	47869116	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaattcagagtccagatcCctggtagcctcacataaaga	13	8	8	12	0	2	3	2	0	0	3	4	3	4	3	4	1	1	1	4	1	4	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:47869116C>A	ENST00000289672.2	-	44	6692	c.6642G>T	c.(6640-6642)agG>agT	p.R2214S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2214					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGTCCAGATCCCTGGTAGCCT	0.468													69	153					3.37205e-40	3.72255e-40	1	0	A	47869116	C	A	47869116	3	1	159	1	0	0	0	0	1	0	0	0	12036	622	22	4	1963	4	PKD1L1	7	47869116	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	11406720	47869116	111269547	202	28717											
CACNA2D1	781	broad.mit.edu	37	chr7	81591337	81591337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtcatcatcctccatctCaacttgggtggcgggggacg	8	9	13	11	2	3	0	3	0	1	0	6	2	5	1	2	4	1	0	2	4	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:81591337C>T	ENST00000356860.3	-	36	3177	c.2839G>A	c.(2839-2841)Gag>Aag	p.E947K	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.E159K|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.E959K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	959						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCCTCCATCTCAACTTGGGTG	0.478													16	32					0	0	0	0	T	81591337	C	T	81591337	3	4	159	1	0	0	0	0	1	0	0	0	2573	835	29	2	452	2	CACNA2D1	7	81591337	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	33722221	81591337	77547326	203	28718											
CACNA2D1	781	broad.mit.edu	37	chr7	81624189	81624189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaatcaattcttacctcatCttgagatttaaccagagttc	13	14	5	9	0	4	3	2	1	2	3	5	4	4	3	2	0	2	1	2	0	4	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:81624189C>T	ENST00000356860.3	-	20	2067	c.1729G>A	c.(1729-1731)Gat>Aat	p.D577N	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D596N	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	596						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTTACCTCATCTTGAGATTTA	0.274													13	26					0	0	0	0	T	81624189	C	T	81624189	3	4	159	1	0	0	0	0	1	0	0	0	2573	913	32	2	1626	2	CACNA2D1	7	81624189	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	32852	81624189	77514474	204	28719											
ABCB1	5243	broad.mit.edu	37	chr7	87178750	87178750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggaggatcttggggttgcGaaccagggcacgtgcaatgg	9	7	17	8	2	1	0	0	0	1	0	1	3	1	2	1	6	3	3	1	6	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:87178750G>A	ENST00000265724.3	-	15	2056	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	ABCB1_ENST00000543898.1_Missense_Mutation_p.R483C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	547	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTGGGGTTGCGAACCAGGGCA	0.562													34	63					0	0	0	0	A	87178750	G	A	87178750	3	1	159	1	0	0	0	0	1	0	0	0	40	1058	37	1	2263	1	ABCB1	7	87178750	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	5554561	87178750	71959913	205	28720											
TRIM4	89122	broad.mit.edu	37	chr7	99516950	99516950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagaagttgtggccgcactcGatggacaccgggtcctggaa	9	7	14	11	3	0	1	0	0	0	1	2	4	1	3	3	4	0	2	3	4	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:99516950G>C	ENST00000355947.2	-	1	204	c.75C>G	c.(73-75)atC>atG	p.I25M	TRIM4_ENST00000349062.2_Missense_Mutation_p.I25M|TRIM4_ENST00000354241.5_Missense_Mutation_p.I25M	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	25					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GGCCGCACTCGATGGACACCG	0.687													3	9					0	0	0	0	C	99516950	G	C	99516950	3	2	159	1	0	0	0	0	1	0	0	0	16609	1048	37	3	1455	3	TRIM4	7	99516950	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	12338200	99516950	59621713	206	28721											
AASS	10157	broad.mit.edu	37	chr7	121766480	121766480	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacccgtactcctctatgatCcaccattttctcataatcaa	11	14	2	14	1	3	1	2	1	2	0	6	1	5	1	4	0	2	1	4	0	5	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:121766480C>G	ENST00000393376.1	-	3	516	c.421G>C	c.(421-423)Gat>Cat	p.D141H	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.D141H			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	141	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCTCTATGATCCACCATTTTC	0.408													60	198					0	0	0	0	G	121766480	C	G	121766480	3	3	159	1	0	0	0	0	1	0	0	0	24	855	30	2	2443	2	AASS	7	121766480	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	22249530	121766480	37372183	207	28722											
TAS2R16	50833	broad.mit.edu	37	chr7	122634944	122634944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttatcaaatagagtacCtataatggtgatgagtatgg	13	14	9	5	0	2	3	1	2	1	1	3	3	2	3	1	2	1	2	1	2	7	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:122634944C>G	ENST00000249284.2	-	1	810	c.745G>C	c.(745-747)Ggt>Cgt	p.G249R		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	249					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATAGAGTACCTATAATGGTG	0.428													38	121					0	0	0	0	G	122634944	C	G	122634944	3	3	159	1	0	0	0	0	1	0	0	0	15660	681	24	4	134	4	TAS2R16	7	122634944	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	868464	122634944	36503719	208	28723											
METTL2B	55798	broad.mit.edu	37	chr7	128119444	128119444	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacagcacaagtgttcttcGaagagccttgaacataaaac	16	8	8	9	1	1	2	0	1	1	1	2	4	1	2	1	0	5	2	1	0	6	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:128119444G>A	ENST00000480046.1	+	2	355	c.240G>A	c.(238-240)tcG>tcA	p.S80S	METTL2B_ENST00000262432.8_Silent_p.S145S			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	145							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGTGTTCTTCGAAGAGCCTTG	0.408													14	115					0	0	0	0	A	128119444	G	A	128119444	2	1	159	1	0	0	0	0	0	0	0	1	9569	1045	37	1		1	METTL2B	7	128119444	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	5484500	128119444	31019219	209	28724											
MKLN1	4289	broad.mit.edu	37	chr7	131012732	131012732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgcgctacacaagtggagctCcttttcctccacctaccttc	7	11	6	17	2	0	0	0	0	0	0	4	1	3	1	5	1	3	2	5	1	3	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:131012732C>G	ENST00000352689.6	+	1	114	c.74C>G	c.(73-75)tCc>tGc	p.S25C	MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	25					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AAGTGGAGCTCCTTTTCCTCC	0.677													4	31					0	0	0	0	G	131012732	C	G	131012732	3	3	159	1	0	0	0	0	1	0	0	0	9672	855	30	2	109	2	MKLN1	7	131012732	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2893288	131012732	28125931	210	28725											
MKLN1	4289	broad.mit.edu	37	chr7	131012745	131012745	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctccttttcctccacCtaccttcccgagtaagtgcc	6	12	7	16	1	0	0	0	0	0	0	4	2	4	1	7	1	3	2	7	1	2	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:131012745C>T	ENST00000352689.6	+	1	127	c.87C>T	c.(85-87)acC>acT	p.T29T	MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	29					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TTTCCTCCACCTACCTTCCCG	0.672													3	25					0	0	0	0	T	131012745	C	T	131012745	2	4	159	1	0	0	0	0	0	0	0	1	9672	668	24	4		4	MKLN1	7	131012745	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	13	131012745	28125918	211	28726											
CUL1	8454	broad.mit.edu	37	chr7	148456685	148456685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaaaggaaaggaatggtGaaaccatcaatacaagattg	19	8	10	4	0	1	3	1	2	0	1	1	5	1	5	1	3	2	0	1	3	8	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:148456685G>A	ENST00000325222.4	+	6	859	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	CUL1_ENST00000602748.1_Missense_Mutation_p.E194K|CUL1_ENST00000409469.1_Missense_Mutation_p.E194K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	194					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAGGAATGGTGAAACCATCAA	0.289													15	34					0	0	0	0	A	148456685	G	A	148456685	3	1	159	1	0	0	0	0	1	0	0	0	4086	1291	45	2	598	2	CUL1	7	148456685	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	17443940	148456685	10681978	212	28727											
GIMAP7	168537	broad.mit.edu	37	chr7	150217650	150217650	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaaaatggtgcagtgcaaCgaaggggcttacttttctga	12	10	13	6	1	1	2	0	1	1	1	1	4	1	2	0	3	4	3	0	3	5	3	rs76395091		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:150217650C>T	ENST00000313543.4	+	2	745	c.588C>T	c.(586-588)aaC>aaT	p.N196N		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	196							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAGTGCAACGAAGGGGCTT	0.448													14	44					0	0	0	0	T	150217650	C	T	150217650	2	4	159	1	0	0	0	0	0	0	0	1	6435	535	19	1		1	GIMAP7	7	150217650	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1760965	150217650	8921013	213	28728											
XKR5	389610	broad.mit.edu	37	chr8	6673270	6673270	+	RNA	DEL	A	A	-																															ctaccctttgagcccattgtAaaaaaaaaaaatacgttggg																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	3	---	---	---	---					-	6673270	A	-	6673270	6	5	159	0	1	1	0	1	0	0	0	0	17530	377	13	0		0	XKR5	8	6673270	RNA	DEL	A	TCGA-CQ-7071-01A-12D-A30E-08		6673270	139690752	214	28729											
KCTD9	54793	broad.mit.edu	37	chr8	25290879	25290879	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaagaccagaaggatcctCaaaattacacagtttcaggg	15	10	8	8	0	2	2	2	0	0	2	3	3	3	3	2	2	1	1	2	2	5	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:25290879C>G	ENST00000221200.4	-	10	1106	c.886G>C	c.(886-888)Gag>Cag	p.E296Q		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	296	Pentapeptide repeat 1.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		GAAGGATCCTCAAAATTACAC	0.418													8	29					0	0	0	0	G	25290879	C	G	25290879	3	3	159	1	0	0	0	0	1	0	0	0	8169	835	29	2	295	2	KCTD9	8	25290879	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	18617609	25290879	121073143	215	28730											
PTK2B	2185	broad.mit.edu	37	chr8	27277505	27277505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgaagcacatgaagtccGatgagatccactggctgcac	11	7	12	11	1	0	3	0	3	0	1	2	5	2	3	2	2	2	4	2	2	2	0	rs140538134	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:27277505G>A	ENST00000397501.1	+	8	1106	c.298G>A	c.(298-300)Gat>Aat	p.D100N	PTK2B_ENST00000517339.1_Missense_Mutation_p.D100N|PTK2B_ENST00000420218.2_Missense_Mutation_p.D100N|PTK2B_ENST00000346049.5_Missense_Mutation_p.D100N|PTK2B_ENST00000338238.4_Missense_Mutation_p.D100N|PTK2B_ENST00000544172.1_Missense_Mutation_p.D100N	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	100	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.D100Y(2)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CATGAAGTCCGATGAGATCCA	0.587													15	38					0	0	0	0	A	27277505	G	A	27277505	3	1	159	1	0	0	0	0	1	0	0	0	12843	1058	37	1	304	1	PTK2B	8	27277505	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1986626	27277505	119086517	216	28731											
FGFR1	2260	broad.mit.edu	37	chr8	38315005	38315005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtgacaaggctccacatCtccatggatactccacagtg	10	10	9	12	0	1	1	0	1	1	0	4	2	3	2	3	3	1	1	3	3	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:38315005C>G	ENST00000425967.3	-	3	381	c.59G>C	c.(58-60)aGa>aCa	p.R20T	FGFR1_ENST00000532791.1_5'UTR|FGFR1_ENST00000447712.2_5'UTR|FGFR1_ENST00000397091.5_5'UTR|FGFR1_ENST00000397103.1_5'UTR|FGFR1_ENST00000397113.2_5'UTR|FGFR1_ENST00000356207.5_5'UTR|FGFR1_ENST00000341462.5_5'UTR|FGFR1_ENST00000335922.5_5'UTR|FGFR1_ENST00000326324.6_5'UTR|FGFR1_ENST00000397108.4_5'UTR	NM_001174067.1	NP_001167538.1	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	0					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GGCTCCACATCTCCATGGATA	0.537		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						8	23					0	0	0	0	G	38315005	C	G	38315005	3	3	159	1	0	0	0	0	1	0	0	0	5908	913	32	2	2887	2	FGFR1	8	38315005	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	11037500	38315005	108049017	217	28732											
TACC1	6867	broad.mit.edu	37	chr8	38693803	38693803	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctcaccttaataagagaaGaggtaaaagctctcctgttt	13	12	8	8	0	2	2	1	0	1	2	3	3	2	2	2	1	2	4	2	1	5	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:38693803G>C	ENST00000379931.3	+	8	2252	c.1873G>C	c.(1873-1875)Gag>Cag	p.E625Q	TACC1_ENST00000520973.1_Missense_Mutation_p.E389Q|TACC1_ENST00000518415.1_Missense_Mutation_p.E539Q|TACC1_ENST00000443286.2_Missense_Mutation_p.E600Q|TACC1_ENST00000519416.1_Missense_Mutation_p.E417Q|TACC1_ENST00000348567.4_Missense_Mutation_p.E175Q|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000276520.8_Missense_Mutation_p.E203Q|TACC1_ENST00000520340.1_Missense_Mutation_p.E548Q|TACC1_ENST00000317827.4_Missense_Mutation_p.E613Q|TACC1_ENST00000520611.1_Missense_Mutation_p.E51Q|TACC1_ENST00000520615.1_Missense_Mutation_p.E418Q|TACC1_ENST00000330691.6_Missense_Mutation_p.E187Q			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	613					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AATAAGAGAAGAGGTAAAAGC	0.507													29	56					0	0	0	0	C	38693803	G	C	38693803	3	2	159	1	0	0	0	0	1	0	0	0	15592	943	33	2	1863	2	TACC1	8	38693803	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	378798	38693803	107670219	218	28733											
SOX17	64321	broad.mit.edu	37	chr8	55372372	55372372	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagtcagcccgccgagctCctcggggaggtggaccgcac	6	4	14	17	4	1	0	1	0	0	0	3	3	2	2	5	4	2	2	5	4	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:55372372C>A	ENST00000297316.4	+	2	1266	c.1062C>A	c.(1060-1062)ctC>ctA	p.L354L		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	354	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCGCCGAGCTCCTCGGGGAGG	0.687													7	19					1.26484e-09	1.32283e-09	1	0	A	55372372	C	A	55372372	2	1	159	1	0	0	0	0	0	0	0	1	15035	842	30	2		2	SOX17	8	55372372	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	16678569	55372372	90991650	219	28734											
GGH	8836	broad.mit.edu	37	chr8	63948295	63948295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtatcttccatagtttttCatgactttattacggcattt	9	20	5	7	1	2	1	1	1	1	0	3	1	3	1	1	1	1	3	1	1	5	10			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:63948295C>G	ENST00000260118.6	-	2	546	c.144G>C	c.(142-144)atG>atC	p.M48I		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	48	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	CATAGTTTTTCATGACTTTAT	0.323													11	65					0	0	0	0	G	63948295	C	G	63948295	3	3	159	1	0	0	0	0	1	0	0	0	6408	826	29	2	844	2	GGH	8	63948295	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	8575923	63948295	82415727	220	28735											
SULF1	23213	broad.mit.edu	37	chr8	70533395	70533395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggcttccatgacaaagaCaaagagtgcagttgtaggga	13	7	13	8	2	0	3	0	1	0	2	1	4	1	4	1	2	1	4	1	2	3	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:70533395C>A	ENST00000260128.4	+	14	2220	c.1503C>A	c.(1501-1503)gaC>gaA	p.D501E	SULF1_ENST00000419716.3_Missense_Mutation_p.D501E|SULF1_ENST00000402687.4_Missense_Mutation_p.D501E|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.D501E	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	501					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATGACAAAGACAAAGAGTGCA	0.532													13	49					1.61879e-10	1.69877e-10	1	0	A	70533395	C	A	70533395	3	1	159	1	0	0	0	0	1	0	0	0	15460	477	17	4	1541	4	SULF1	8	70533395	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	6585100	70533395	75830627	221	28736											
RDH10	157506	broad.mit.edu	37	chr8	74231427	74231427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttcagtactgccggagttGaggtttgtcagatatatagc	9	14	12	6	1	2	2	2	1	0	1	2	3	2	3	1	2	3	4	1	2	4	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:74231427G>A	ENST00000240285.5	+	3	1300	c.622G>A	c.(622-624)Gag>Aag	p.E208K	RDH10_ENST00000519380.1_Missense_Mutation_p.E43K|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	208					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TGCCGGAGTTGAGGTTTGTCA	0.443													46	89					0	0	0	0	A	74231427	G	A	74231427	3	1	159	1	0	0	0	0	1	0	0	0	13271	1291	45	2	632	2	RDH10	8	74231427	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3698032	74231427	72132595	222	28737											
LRRCC1	85444	broad.mit.edu	37	chr8	86057663	86057663	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgcgtgaacttttggaaGaaacatgcaagaacaaaaaa	21	7	8	5	1	0	3	0	1	0	2	0	4	0	4	0	1	5	1	0	1	9	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:86057663G>C	ENST00000414626.2	+	18	3845	c.2956G>C	c.(2956-2958)Gaa>Caa	p.E986Q	LRRCC1_ENST00000360375.3_Missense_Mutation_p.E1006Q			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	1006					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACTTTTGGAAGAAACATGCAA	0.274													5	17					0	0	0	0	C	86057663	G	C	86057663	3	2	159	1	0	0	0	0	1	0	0	0	9090	943	33	2	3090	2	LRRCC1	8	86057663	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	11826236	86057663	60306359	223	28738											
RAD54B	25788	broad.mit.edu	37	chr8	95392501	95392501	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagaagagtgttgactgtTaaagccatcaacaatctgct	16	10	8	7	0	2	3	1	1	1	2	2	3	2	3	1	0	3	3	1	0	7	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:95392501T>C	ENST00000336148.5	-	12	2243	c.2119A>G	c.(2119-2121)Aac>Gac	p.N707D		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TGTTGACTGTTAAAGCCATCA	0.358								Direct reversal of damage;Homologous recombination					11	38					0	0	0	0	C	95392501	T	C	95392501	3	2	159	1	0	0	0	0	1	0	0	0	13074	1754	61	5	629	5	RAD54B	8	95392501	Missense_Mutation	SNP	T	TCGA-CQ-7071-01A-12D-A30E-08	9334838	95392501	50971521	224	28739											
MTERFD1	51001	broad.mit.edu	37	chr8	97263142	97263142	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaagtcctacctggtcttCagattttcaaggtcttcaga	11	14	7	9	0	5	2	3	0	2	2	6	2	6	2	2	2	1	0	2	2	4	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:97263142C>T	ENST00000523821.1	-	4	788	c.669G>A	c.(667-669)ctG>ctA	p.L223L	MTERFD1_ENST00000287025.3_Silent_p.L223L|MTERFD1_ENST00000524341.1_Silent_p.L33L|MTERFD1_ENST00000522822.1_Silent_p.L102L			Q96E29	MTER1_HUMAN	MTERF domain containing 1	223					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ACCTGGTCTTCAGATTTTCAA	0.358													17	45					0	0	0	0	T	97263142	C	T	97263142	2	4	159	1	0	0	0	0	0	0	0	1	9989	813	29	2		2	MTERFD1	8	97263142	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1870641	97263142	49100880	225	28740											
SLC30A8	169026	broad.mit.edu	37	chr8	118175734	118175734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttggccagcaccatcaCtatcttaaaggacttctcca	10	11	7	13	0	4	0	1	0	3	0	5	1	4	1	3	3	1	1	3	3	3	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:118175734C>G	ENST00000427715.2	+	9	1081	c.647C>G	c.(646-648)aCt>aGt	p.T216S	SLC30A8_ENST00000519688.1_Missense_Mutation_p.T216S|SLC30A8_ENST00000521243.1_Missense_Mutation_p.T216S|SLC30A8_ENST00000456015.2_Missense_Mutation_p.T265S	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	265					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGCACCATCACTATCTTAAAG	0.403													29	55					0	0	0	0	G	118175734	C	G	118175734	3	3	159	1	0	0	0	0	1	0	0	0	14649	565	20	4	816	4	SLC30A8	8	118175734	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	20912592	118175734	28188288	226	28741											
SLC30A8	169026	broad.mit.edu	37	chr8	118175750	118175750	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcactatcttaaaggacttCtccatcttactcatggaagg	12	13	6	10	0	5	0	2	0	3	0	6	2	5	2	1	3	1	0	1	3	5	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:118175750C>G	ENST00000427715.2	+	9	1097	c.663C>G	c.(661-663)ttC>ttG	p.F221L	SLC30A8_ENST00000519688.1_Missense_Mutation_p.F221L|SLC30A8_ENST00000521243.1_Missense_Mutation_p.F221L|SLC30A8_ENST00000456015.2_Missense_Mutation_p.F270L	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	270					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TAAAGGACTTCTCCATCTTAC	0.413													26	49					0	0	0	0	G	118175750	C	G	118175750	3	3	159	1	0	0	0	0	1	0	0	0	14649	912	32	2	832	2	SLC30A8	8	118175750	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	16	118175750	28188272	227	28742											
DSCC1	79075	broad.mit.edu	37	chr8	120862657	120862657	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccttctctttttgactgtCaggtccttcatatggatttt	6	20	6	9	0	3	1	2	1	1	0	6	2	5	2	2	2	0	0	2	2	1	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:120862657C>G	ENST00000313655.4	-	3	665	c.451G>C	c.(451-453)Gac>Cac	p.D151H		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	151					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTTGACTGTCAGGTCCTTCA	0.303													14	40					0	0	0	0	G	120862657	C	G	120862657	3	3	159	1	0	0	0	0	1	0	0	0	4806	826	29	2	758	2	DSCC1	8	120862657	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2686907	120862657	25501365	228	28743											
MTBP	27085	broad.mit.edu	37	chr8	121500541	121500541	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaatttaattcatggaaaGatgaaaacaaagacagaaga	21	8	7	5	0	2	5	2	1	0	4	2	6	2	6	0	1	1	0	0	1	7	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:121500541G>A	ENST00000305949.1	+	12	1353	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	436					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTCATGGAAAGATGAAAACAA	0.358													8	27					0	0	0	0	A	121500541	G	A	121500541	2	1	159	1	0	0	0	0	0	0	0	1	9982	933	33	2		2	MTBP	8	121500541	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	637884	121500541	24863481	229	28744											
NDUFB9	4715	broad.mit.edu	37	chr8	125555355	125555355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccgatactttgcttgtttGatgagagcccggtttgaaga	9	14	11	7	2	0	4	0	3	0	2	0	6	0	4	2	1	4	3	2	1	3	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:125555355G>C	ENST00000522532.1	+	2	176	c.129G>C	c.(127-129)ttG>ttC	p.L43F	NDUFB9_ENST00000517367.1_Intron|NDUFB9_ENST00000276689.3_Missense_Mutation_p.L43F|NDUFB9_ENST00000518008.1_Missense_Mutation_p.L43F			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	43					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	TTGCTTGTTTGATGAGAGCCC	0.448													18	48					0	0	0	0	C	125555355	G	C	125555355	3	2	159	1	0	0	0	0	1	0	0	0	10358	1281	45	2	135	2	NDUFB9	8	125555355	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	4054814	125555355	20808667	230	28745											
KIAA0196	9897	broad.mit.edu	37	chr8	126071480	126071480	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacctttaggaaggtagctCtgagtttagtaaccatggat	11	14	10	6	0	1	1	0	1	1	0	1	3	1	3	2	3	3	4	2	3	6	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:126071480C>G	ENST00000318410.7	-	14	2097	c.1748G>C	c.(1747-1749)aGa>aCa	p.R583T	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R435T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	583					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GAAGGTAGCTCTGAGTTTAGT	0.393													10	31					0	0	0	0	G	126071480	C	G	126071480	3	3	159	1	0	0	0	0	1	0	0	0	8212	913	32	2	1795	2	KIAA0196	8	126071480	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	516125	126071480	20292542	231	28746											
GML	2765	broad.mit.edu	37	chr8	143927842	143927842	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtgaactacttgtttataaGaactgtacaaacaactgcac	15	11	6	9	1	0	2	0	1	0	1	0	2	0	2	0	0	7	3	0	0	8	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:143927842G>C	ENST00000220940.1	+	4	303	c.213G>C	c.(211-213)aaG>aaC	p.K71N		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	71	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTGTTTATAAGAACTGTACAA	0.348													23	50					0	0	0	0	C	143927842	G	C	143927842	3	2	159	1	0	0	0	0	1	0	0	0	6543	933	33	2	223	2	GML	8	143927842	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	17856362	143927842	2436180	232	28747											
CYC1	1537	broad.mit.edu	37	chr8	145152146	145152146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctgcagatgttgatgatGatggctctgctggtgcccct	5	14	13	9	0	2	4	0	3	2	1	2	4	2	4	2	2	3	4	2	2	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:145152146G>A	ENST00000318911.4	+	7	958	c.885G>A	c.(883-885)atG>atA	p.M295I		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	295					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGATGATGATGGCTCTGC	0.592													14	26					0	0	0	0	A	145152146	G	A	145152146	3	1	159	1	0	0	0	0	1	0	0	0	4167	1290	45	2	911	2	CYC1	8	145152146	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1224304	145152146	1211876	233	28748											
ADCK5	203054	broad.mit.edu	37	chr8	145617171	145617171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcatcaaggcctttgctGagcagatattttacaccggc	10	11	9	11	1	2	2	2	1	0	1	2	2	2	2	2	2	4	3	2	2	3	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:145617171G>A	ENST00000308860.6	+	10	1089	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	349	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCCTTTGCTGAGCAGATATT	0.632													43	76					0	0	0	0	A	145617171	G	A	145617171	3	1	159	1	0	0	0	0	1	0	0	0	291	1291	45	2	1083	2	ADCK5	8	145617171	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	465025	145617171	746851	234	28749											
ZNF16	7564	broad.mit.edu	37	chr8	146156489	146156489	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attatgaatcctctgatgctGaatgagggttgagctctggc	9	13	12	7	0	2	5	0	5	2	0	3	5	3	5	1	2	2	3	1	2	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:146156489G>C	ENST00000276816.4	-	4	1870	c.1684C>G	c.(1684-1686)Cag>Gag	p.Q562E	ZNF16_ENST00000394909.2_Missense_Mutation_p.Q562E	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTCTGATGCTGAATGAGGGTT	0.478													18	62					0	0	0	0	C	146156489	G	C	146156489	3	2	159	1	0	0	0	0	1	0	0	0	17833	1299	45	2	368	2	ZNF16	8	146156489	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	539318	146156489	207533	235	28750											
CD274	29126	broad.mit.edu	37	chr9	5457237	5457237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattcaatttgtgcatggaGaggaagacctgaaggttcag	12	12	12	5	0	2	3	2	1	0	2	2	5	2	4	1	3	1	2	1	3	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:5457237G>A	ENST00000381577.3	+	3	297	c.211G>A	c.(211-213)Gag>Aag	p.E71K	CD274_ENST00000381573.4_Intron|CD274_ENST00000498261.1_3'UTR	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	71	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TGTGCATGGAGAGGAAGACCT	0.443			T	CIITA	"PMBL, Hodgkin Lymphona, "								21	44					0	0	0	0	A	5457237	G	A	5457237	3	1	159	1	0	0	0	0	1	0	0	0	3020	943	33	2	217	2	CD274	9	5457237	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08		5457237	135756194	236	28751											
ERMP1	79956	broad.mit.edu	37	chr9	5797843	5797843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaaagtcaattttataGaatcccaaggtgtctgttct	12	15	6	8	0	4	1	2	0	2	1	5	1	5	1	1	1	0	1	1	1	7	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:5797843G>T	ENST00000339450.5	-	13	2449	c.2360C>A	c.(2359-2361)tCt>tAt	p.S787Y	ERMP1_ENST00000543230.1_Missense_Mutation_p.S365Y|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	787					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CAATTTTATAGAATCCCAAGG	0.353													36	123					1.30015e-28	1.42762e-28	1	0	T	5797843	G	T	5797843	3	4	159	1	0	0	0	0	1	0	0	0	5274	942	33	2	366	2	ERMP1	9	5797843	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	340606	5797843	135415588	237	28752											
LINGO2	158038	broad.mit.edu	37	chr9	27949403	27949403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggactgtctgcccttcatCtactagcagatgctgcaact	8	12	8	13	0	3	1	1	0	2	1	3	2	3	2	1	1	6	3	1	1	3	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:27949403C>T	ENST00000379992.2	-	6	1716	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	LINGO2_ENST00000308675.3_Missense_Mutation_p.D423N	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	423	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGCCCTTCATCTACTAGCAGA	0.483													26	71					0	0	0	0	T	27949403	C	T	27949403	3	4	159	1	0	0	0	0	1	0	0	0	8870	913	32	2	557	2	LINGO2	9	27949403	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	22151560	27949403	113264028	238	28753											
APTX	54840	broad.mit.edu	37	chr9	32987599	32987599	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagagcattggccagagttGctcccaggttccagccctgt	8	9	11	13	0	0	2	0	0	0	2	2	2	2	2	4	2	3	4	4	2	0	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:32987599G>C	ENST00000379817.2	-	3	622	c.426C>G	c.(424-426)agC>agG	p.S142R	APTX_ENST00000397172.3_Intron|APTX_ENST00000476858.1_Missense_Mutation_p.S102R|APTX_ENST00000379825.2_Missense_Mutation_p.S156R|APTX_ENST00000379819.1_Missense_Mutation_p.S156R|APTX_ENST00000436040.2_Missense_Mutation_p.S142R|APTX_ENST00000463596.1_Missense_Mutation_p.S142R|APTX_ENST00000379813.3_Missense_Mutation_p.S142R|APTX_ENST00000309615.3_Missense_Mutation_p.S156R|APTX_ENST00000468275.1_Missense_Mutation_p.S142R			Q7Z2E3	APTX_HUMAN	aprataxin	156					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GGCCAGAGTTGCTCCCAGGTT	0.483								Editing and processing nucleases					28	95					0	0	0	0	C	32987599	G	C	32987599	3	2	159	1	0	0	0	0	1	0	0	0	822	1310	46	4	631	4	APTX	9	32987599	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	5038196	32987599	108225832	239	28754											
PGM5	5239	broad.mit.edu	37	chr9	71002428	71002428	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaacctccttcggaccatCtttgactttcatgccatcaa	9	14	4	14	1	3	1	2	1	1	0	5	2	4	2	4	1	2	0	4	1	2	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:71002428C>G	ENST00000396396.1	+	4	850	c.621C>G	c.(619-621)atC>atG	p.I207M	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.I207M	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	207					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTCGGACCATCTTTGACTTTC	0.428													31	101					0	0	0	0	G	71002428	C	G	71002428	3	3	159	1	0	0	0	0	1	0	0	0	11873	903	32	2	635	2	PGM5	9	71002428	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	38014829	71002428	70211003	240	28755											
VPS13A	23230	broad.mit.edu	37	chr9	79910685	79910685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgacaaatacctttcatatGataacagagagccagagctc	16	9	7	9	0	1	4	1	2	0	2	2	5	1	4	2	0	4	1	2	0	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:79910685G>A	ENST00000360280.3	+	33	3995	c.3735G>A	c.(3733-3735)atG>atA	p.M1245I	VPS13A_ENST00000376636.3_Missense_Mutation_p.M1206I|VPS13A_ENST00000357409.5_Missense_Mutation_p.M1245I|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.M1245I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1245					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTTTCATATGATAACAGAGA	0.383													18	50					0	0	0	0	A	79910685	G	A	79910685	3	1	159	1	0	0	0	0	1	0	0	0	17285	1290	45	2	3865	2	VPS13A	9	79910685	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	8908257	79910685	61302746	241	28756											
FRMD3	257019	broad.mit.edu	37	chr9	85987841	85987841	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacttacttttcatttgcttGaagatggacttgttaggttc	8	18	8	7	0	1	2	1	1	0	1	2	3	1	3	0	2	2	3	0	2	3	8			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:85987841G>A	ENST00000304195.3	-	3	488	c.282C>T	c.(280-282)ttC>ttT	p.F94F	FRMD3_ENST00000376438.1_Silent_p.F94F	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	94	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCATTTGCTTGAAGATGGACT	0.403													24	99					0	0	0	0	A	85987841	G	A	85987841	2	1	159	1	0	0	0	0	0	0	0	1	6098	1281	45	2		2	FRMD3	9	85987841	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	6077156	85987841	55225590	242	28757											
GABBR2	9568	broad.mit.edu	37	chr9	101068556	101068556	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgttgtagacactcatcccGatgtacttgctgtcgttgag	8	13	10	10	3	1	2	1	1	0	1	3	3	2	2	1	0	2	5	1	0	2	5	rs141903124		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:101068556G>A	ENST00000259455.2	-	15	2535	c.2076C>T	c.(2074-2076)atC>atT	p.I692I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	692					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CACTCATCCCGATGTACTTGC	0.552													13	35					0	0	0	0	A	101068556	G	A	101068556	2	1	159	1	0	0	0	0	0	0	0	1	6204	1048	37	1		1	GABBR2	9	101068556	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	15080715	101068556	40144875	243	28758											
ABCA1	19	broad.mit.edu	37	chr9	107568576	107568576	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacaggcagcatcttcttGattttgtcgctgctacactg	8	13	8	12	1	2	1	0	1	2	0	3	1	2	1	0	1	3	4	0	1	1	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:107568576G>A	ENST00000374736.3	-	31	4804	c.4410C>T	c.(4408-4410)atC>atT	p.I1470I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1470					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCATCTTCTTGATTTTGTCGC	0.582													17	51					0	0	0	0	A	107568576	G	A	107568576	2	1	159	1	0	0	0	0	0	0	0	1	28	1280	45	2		2	ABCA1	9	107568576	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	6500020	107568576	33644855	244	28759											
AKNA	80709	broad.mit.edu	37	chr9	117138967	117138967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggggggacggtagctctCatctttggggaatctcaccc	6	11	13	11	1	3	0	2	0	3	0	5	2	3	2	1	6	1	2	1	6	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:117138967C>T	ENST00000307564.4	-	3	1281	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.E293K|AKNA_ENST00000312033.3_Missense_Mutation_p.E374K|AKNA_ENST00000374088.3_Missense_Mutation_p.E374K	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CGGTAGCTCTCATCTTTGGGG	0.592													14	42					0	0	0	0	T	117138967	C	T	117138967	3	4	159	1	0	0	0	0	1	0	0	0	463	835	29	2	3279	2	AKNA	9	117138967	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	9570391	117138967	24074464	245	28760											
AKNA	80709	broad.mit.edu	37	chr9	117139390	117139390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggccctctggcaaggtttCtgccagggcagtgggctggg	4	8	19	10	0	2	0	0	0	2	0	2	0	2	0	2	7	1	4	2	7	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:117139390C>G	ENST00000307564.4	-	3	858	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	AKNA_ENST00000374075.5_Missense_Mutation_p.E152Q|AKNA_ENST00000312033.3_Missense_Mutation_p.E233Q|AKNA_ENST00000374088.3_Missense_Mutation_p.E233Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGCAAGGTTTCTGCCAGGGCA	0.622													17	31					0	0	0	0	G	117139390	C	G	117139390	3	3	159	1	0	0	0	0	1	0	0	0	463	922	32	2	3702	2	AKNA	9	117139390	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	423	117139390	24074041	246	28761											
WDR34	89891	broad.mit.edu	37	chr9	131396030	131396030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgggacccctcaggccGccacctctgctgccaggcag	5	5	11	20	2	2	0	1	0	1	0	3	1	3	1	7	3	2	2	7	3	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:131396030G>A	ENST00000372715.2	-	9	1664	c.1604C>T	c.(1603-1605)gCg>gTg	p.A535V		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	535						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CCCTCAGGCCGCCACCTCTGC	0.617													5	286					0	0	0	0	A	131396030	G	A	131396030	3	1	159	1	0	0	0	0	1	0	0	0	17384	1087	38	1	10	1	WDR34	9	131396030	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	14256640	131396030	9817401	247	28762											
TTF1	7270	broad.mit.edu	37	chr9	135267530	135267530	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaccatctcaccaatcgtCttccagtcattcccaaggag	10	9	6	16	1	3	0	2	0	2	0	7	1	5	1	5	1	0	0	5	1	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:135267530C>T	ENST00000334270.2	-	6	1959	c.1920G>A	c.(1918-1920)aaG>aaA	p.K640K		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	640	Myb-like 1.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CACCAATCGTCTTCCAGTCAT	0.493													9	29					0	0	0	0	T	135267530	C	T	135267530	2	4	159	1	0	0	0	0	0	0	0	1	16814	912	32	2		2	TTF1	9	135267530	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	3871500	135267530	5945901	248	28763											
GTF3C5	9328	broad.mit.edu	37	chr9	135926201	135926201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaatccccccatctcaggtGagaatctgattggcctgagc	10	9	9	13	0	2	3	1	3	2	1	4	4	3	3	4	2	1	0	4	2	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:135926201G>A	ENST00000372097.5	+	4	927	c.604G>A	c.(604-606)Gag>Aag	p.E202K	GTF3C5_ENST00000372095.5_Missense_Mutation_p.E77K|GTF3C5_ENST00000372108.5_Missense_Mutation_p.E202K|GTF3C5_ENST00000372099.6_Missense_Mutation_p.E193K|GTF3C5_ENST00000342018.8_Missense_Mutation_p.E202K	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	202						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CATCTCAGGTGAGAATCTGAT	0.607													35	96					0	0	0	0	A	135926201	G	A	135926201	3	1	159	1	0	0	0	0	1	0	0	0	6926	1291	45	2	618	2	GTF3C5	9	135926201	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	658671	135926201	5287230	249	28764											
PMPCA	23203	broad.mit.edu	37	chr9	139317659	139317659	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccacgtatgagcacatccaGaccgccctgtcgagtaagga	11	6	10	14	3	0	2	0	1	0	1	2	4	1	3	4	1	1	3	4	1	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:139317659G>C	ENST00000371717.3	+	13	1530	c.1521G>C	c.(1519-1521)caG>caC	p.Q507H	PMPCA_ENST00000399219.3_Missense_Mutation_p.Q376H	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	507					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		AGCACATCCAGACCGCCCTGT	0.647													10	39					0	0	0	0	C	139317659	G	C	139317659	3	2	159	1	0	0	0	0	1	0	0	0	12212	933	33	2	1571	2	PMPCA	9	139317659	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3391458	139317659	1895772	250	28765											
NOTCH1	4851	broad.mit.edu	37	chr9	139412344	139412344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacactggcactcgaaggagCccagcgtgttgatgcacttg	9	8	13	11	2	0	1	0	1	0	0	1	4	0	2	1	2	3	3	1	2	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:139412344C>A	ENST00000277541.6	-	8	1376	c.1301G>T	c.(1300-1302)gGc>gTc	p.G434V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	434	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCGAAGGAGCCCAGCGTGTT	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			22	46					1.10513e-12	1.17171e-12	1	0	A	139412344	C	A	139412344	3	1	159	1	0	0	0	0	1	0	0	0	10617	739	26	4	6474	4	NOTCH1	9	139412344	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	94685	139412344	1801087	251	28766											
NOTCH1	4851	broad.mit.edu	37	chr9	139413130	139413130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggcggcgctggcacagtCatcaatgttctcgctgcagt	7	9	13	12	3	3	0	2	0	1	0	4	0	3	0	0	3	1	6	0	3	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:139413130C>T	ENST00000277541.6	-	6	1087	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	338	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGCACAGTCATCAATGTTC	0.632			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			13	28					0	0	0	0	T	139413130	C	T	139413130	3	4	159	1	0	0	0	0	1	0	0	0	10617	826	29	2	6771	2	NOTCH1	9	139413130	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	786	139413130	1800301	252	28767											
FBXW5	54461	broad.mit.edu	37	chr9	139837266	139837266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatgaggagttgtgcggccCcaggaacacccccgaggcca	9	4	15	13	2	0	1	0	1	0	0	0	5	0	4	5	5	2	1	5	5	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:139837266C>T	ENST00000325285.3	-	4	560	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	161							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TTGTGCGGCCCCAGGAACACC	0.657													23	51					0	0	0	0	T	139837266	C	T	139837266	3	4	159	1	0	0	0	0	1	0	0	0	5813	623	22	4	1243	4	FBXW5	9	139837266	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	424136	139837266	1376165	253	28768											
MAN1B1	11253	broad.mit.edu	37	chr9	140001200	140001200	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aacgcacctgctgcggcactCcgagcccagtaagctcacct	9	6	9	17	3	1	0	1	0	0	0	2	1	2	0	4	1	5	5	4	1	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:140001200C>G	ENST00000371589.4	+	10	1578	c.1505C>G	c.(1504-1506)tCc>tGc	p.S502C	MAN1B1_ENST00000474902.1_Missense_Mutation_p.S205C|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	502					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CTGCGGCACTCCGAGCCCAGT	0.632													15	57					0	0	0	0	G	140001200	C	G	140001200	3	3	159	1	0	0	0	0	1	0	0	0	9281	855	30	2	1543	2	MAN1B1	9	140001200	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	163934	140001200	1212231	254	28769											
UPF2	26019	broad.mit.edu	37	chr10	11990454	11990454	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttcttcttcatcctcttCaagattttctccttctgtca	5	21	2	13	0	9	1	3	0	6	1	11	1	10	1	2	0	0	0	2	0	1	8			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:11990454C>G	ENST00000356352.2	-	15	3561	c.3088G>C	c.(3088-3090)Gaa>Caa	p.E1030Q	UPF2_ENST00000357604.5_Missense_Mutation_p.E1030Q|UPF2_ENST00000397053.2_Missense_Mutation_p.E1030Q			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1030	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				tcatcctcttcaagattttct	0.358													21	32					0	0	0	0	G	11990454	C	G	11990454	3	3	159	1	0	0	0	0	1	0	0	0	17100	835	29	2	758	2	UPF2	10	11990454	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08		11990454	123544293	255	28770											
UPF2	26019	broad.mit.edu	37	chr10	12006125	12006125	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaagtctgacagaagcatCtgcaacaggaagaatgatga	17	6	12	6	0	2	6	0	3	2	3	2	8	2	7	0	1	3	2	0	1	5	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:12006125C>T	ENST00000356352.2	-	10	2541		c.e10-1		UPF2_ENST00000357604.5_Splice_Site|UPF2_ENST00000397053.2_Splice_Site			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)						mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ACAGAAGCATCTGCAACAGGA	0.403													26	85					0	0	0	0	T	12006125	C	T	12006125	5	4	159	1	0	0	0	0	0	0	1	0	17100	927	32	2	1799	2	UPF2	10	12006125	Splice_Site	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	15671	12006125	123528622	256	28771											
PHYH	5264	broad.mit.edu	37	chr10	13333884	13333884	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcatggccataatattaggtCcagtgaagcactccacatat	13	10	8	10	0	0	1	0	1	0	0	2	1	2	1	3	2	1	2	3	2	5	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:13333884C>G	ENST00000396920.3	-	5	790	c.386G>C	c.(385-387)gGa>gCa	p.G129A	PHYH_ENST00000396913.2_Missense_Mutation_p.G48A|PHYH_ENST00000263038.4_Missense_Mutation_p.G148A			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	148					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	AATATTAGGTCCAGTGAAGCA	0.333													16	25					0	0	0	0	G	13333884	C	G	13333884	3	3	159	1	0	0	0	0	1	0	0	0	11936	855	30	2	593	2	PHYH	10	13333884	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1327759	13333884	122200863	257	28772											
FAM171A1	221061	broad.mit.edu	37	chr10	15255015	15255015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atcatcgtcttcctcttcctCgtgggcagatcttctctggt	4	16	8	13	2	5	1	1	0	4	1	10	1	7	1	2	2	0	1	2	2	0	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:15255015C>G	ENST00000378116.4	-	8	2578	c.2572G>C	c.(2572-2574)Gag>Cag	p.E858Q		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	858						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCCTCTTCCTCGTGGGCAGAT	0.592													58	158					0	0	0	0	G	15255015	C	G	15255015	3	3	159	1	0	0	0	0	1	0	0	0	5531	893	31	3	104	3	FAM171A1	10	15255015	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1921131	15255015	120279732	258	28773											
THNSL1	79896	broad.mit.edu	37	chr10	25312196	25312197	+	Frame_Shift_Del	DEL	AG	AG	-																															tcatctgaaaaagataacacAgaaatgtttttctagtatac																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:25312196_25312197delAG	ENST00000524413.1	+	3	391_392	c.44_45delAG	c.(43-45)cfs	p.Q15fs	THNSL1_ENST00000376356.4_Frame_Shift_Del_p.Q15fs			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	15					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AAGATAACACAGAAATGTTTTT	0.366													18	63	---	---	---	---					-	25312197	AG	-	25312196	7	5	159	1	0	1	0	1	0	0	0	0	15956	188	7	0	46	0	THNSL1	10	25312196	Frame_Shift_Del	DEL	AG	TCGA-CQ-7071-01A-12D-A30E-08	10057181	25312196	110222551	259	28774											
GAD2	2572	broad.mit.edu	37	chr10	26581864	26581864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgtctgcttctggtacattCctccaagcttgcgtactctg	6	15	8	12	1	3	0	0	0	3	0	5	0	5	0	2	1	5	4	2	1	3	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:26581864C>T	ENST00000376261.3	+	15	2031	c.1528C>T	c.(1528-1530)Cct>Tct	p.P510S	GAD2_ENST00000259271.3_Missense_Mutation_p.P510S	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	510					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTGGTACATTCCTCCAAGCTT	0.453													85	221					0	0	0	0	T	26581864	C	T	26581864	3	4	159	1	0	0	0	0	1	0	0	0	6228	855	30	2	1586	2	GAD2	10	26581864	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1269668	26581864	108952883	260	28775											
RAB18	22931	broad.mit.edu	37	chr10	27826858	27826858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcctttgaagaacttgttGaaaagatcattcagacccct	12	12	8	9	0	2	5	2	2	0	3	2	5	2	5	3	0	2	1	3	0	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:27826858G>A	ENST00000356940.6	+	7	601	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	RAB18_ENST00000375802.3_Missense_Mutation_p.E122K|RAB18_ENST00000535776.1_Missense_Mutation_p.E103K|RAB18_ENST00000465772.1_3'UTR	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	167					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						AGAACTTGTTGAAAAGATCAT	0.448													15	55					0	0	0	0	A	27826858	G	A	27826858	3	1	159	1	0	0	0	0	1	0	0	0	12985	1291	45	2	525	2	RAB18	10	27826858	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1244994	27826858	107707889	261	28776											
KIAA1462	57608	broad.mit.edu	37	chr10	30318246	30318246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatggggctgagcagccactCttctcagaattcctcgtgga	9	10	11	11	1	2	2	1	1	2	1	5	3	3	3	2	3	2	2	2	3	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:30318246C>T	ENST00000375377.1	-	3	932	c.831G>A	c.(829-831)aaG>aaA	p.K277K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	277	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGCAGCCACTCTTCTCAGAAT	0.537													22	87					0	0	0	0	T	30318246	C	T	30318246	2	4	159	1	0	0	0	0	0	0	0	1	8285	912	32	2		2	KIAA1462	10	30318246	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2491388	30318246	105216501	262	28777											
RBP3	5949	broad.mit.edu	37	chr10	48388538	48388538	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagggttgtagcgcaggtcGatcaccagcgcagccgtgtc	7	7	14	13	4	1	0	1	0	0	0	3	1	1	0	3	2	3	4	3	2	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:48388538G>A	ENST00000224600.4	-	1	2453	c.2340C>T	c.(2338-2340)atC>atT	p.I780I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	780	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGCGCAGGTCGATCACCAGCG	0.612													13	32					0	0	0	0	A	48388538	G	A	48388538	2	1	159	1	0	0	0	0	0	0	0	1	13239	1048	37	1		1	RBP3	10	48388538	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	18070292	48388538	87146209	263	28778											
PCDH15	65217	broad.mit.edu	37	chr10	55626420	55626420	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgagtacatcggctttgccGctcagtcccttcccatagtc	7	11	8	15	3	1	0	1	0	0	0	5	1	3	0	3	1	2	3	3	1	2	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:55626420G>A	ENST00000373965.2	-	28	4114	c.3720C>T	c.(3718-3720)agC>agT	p.S1240S	PCDH15_ENST00000395438.1_Silent_p.S1233S|PCDH15_ENST00000395433.1_Silent_p.S1211S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Silent_p.S844S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Silent_p.S1196S|PCDH15_ENST00000395445.1_Silent_p.S1240S|PCDH15_ENST00000414778.1_Silent_p.S1238S|PCDH15_ENST00000361849.3_Silent_p.S1233S|PCDH15_ENST00000320301.6_Silent_p.S1233S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Silent_p.S1233S|PCDH15_ENST00000437009.1_Silent_p.S1162S|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1233	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CGGCTTTGCCGCTCAGTCCCT	0.408										HNSCC(58;0.16)			14	39					0	0	0	0	A	55626420	G	A	55626420	2	1	159	1	0	0	0	0	0	0	0	1	11582	1078	38	1		1	PCDH15	10	55626420	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	7237882	55626420	79908327	264	28779											
ANK3	288	broad.mit.edu	37	chr10	61828923	61828923	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggactttacatctacacAtgaagaagtagtaagggctt	13	12	9	7	0	2	2	0	1	2	1	2	3	2	3	0	2	2	3	0	2	6	6	rs142931189		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:61828923A>T	ENST00000280772.1	-	37	11907	c.11716T>A	c.(11716-11718)Tgt>Agt	p.C3906S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3906					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACATCTACACATGAAGAAGTA	0.403													61	170					0	0	0	0	T	61828923	A	T	61828923	3	4	159	1	0	0	0	0	1	0	0	0	622	217	8	5	1758	5	ANK3	10	61828923	Missense_Mutation	SNP	A	TCGA-CQ-7071-01A-12D-A30E-08	6202503	61828923	73705824	265	28780											
CDH23	64072	broad.mit.edu	37	chr10	73572554	73572554	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcgtgagccagcagctgtCaagcctgatgatgaccgata	10	7	14	10	2	1	4	1	4	0	0	1	5	1	4	3	1	4	2	3	1	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:73572554C>G	ENST00000224721.6	+	67	9560	c.9555C>G	c.(9553-9555)gtC>gtG	p.V3185V	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.V940V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3180					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGCAGCTGTCAAGCCTGATG	0.592													8	21					0	0	0	0	G	73572554	C	G	73572554	2	3	159	1	0	0	0	0	0	0	0	1	3137	813	29	2		2	CDH23	10	73572554	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	11743631	73572554	61962193	266	28781											
PLAU	5328	broad.mit.edu	37	chr10	75673112	75673112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctaaagctgcttgtccaaGagtgcatggtgcatgactgc	9	10	12	10	0	0	2	0	1	0	1	1	2	1	2	2	1	5	4	2	1	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:75673112G>A	ENST00000446342.1	+	5	864	c.382G>A	c.(382-384)Gag>Aag	p.E128K	C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.E145K|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Missense_Mutation_p.E109K	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	145	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GCTTGTCCAAGAGTGCATGGT	0.537													32	96					0	0	0	0	A	75673112	G	A	75673112	3	1	159	1	0	0	0	0	1	0	0	0	12094	943	33	2	489	2	PLAU	10	75673112	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	2100558	75673112	59861635	267	28782											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-																															tccattacatcacagtggggCtcctcctcctcctccttccc																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gct>g	p.AP981del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	981	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													7	216	---	---	---	---					-	81070789	CTC	-	81070787	7	5	159	1	0	1	0	1	0	0	0	0	17791	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-CQ-7071-01A-12D-A30E-08	5397675	81070787	54463960	268	28783											
RGR	5995	broad.mit.edu	37	chr10	86017661	86017661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccccaggtaaacaccactCtgccagcaaggacgctgctg	10	6	9	16	1	1	0	0	0	1	0	2	1	2	1	4	2	4	4	4	2	3	1	rs145994931		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:86017661C>G	ENST00000359452.4	+	6	693	c.655C>G	c.(655-657)Ctg>Gtg	p.L219V	RGR_ENST00000358110.5_Intron|RGR_ENST00000479725.1_3'UTR	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	215					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						AAACACCACTCTGCCAGCAAG	0.562													19	44					0	0	0	0	G	86017661	C	G	86017661	3	3	159	1	0	0	0	0	1	0	0	0	13374	912	32	2	677	2	RGR	10	86017661	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	4946874	86017661	49517086	269	28784											
HECTD2	143279	broad.mit.edu	37	chr10	93221090	93221090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taacaacgtttgattctttcCcagaattaaatgctgcattt	12	16	5	8	1	1	2	0	1	1	1	2	2	2	2	1	0	4	3	1	0	5	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:93221090C>T	ENST00000446394.1	+	4	587	c.487C>T	c.(487-489)Cca>Tca	p.P163S	HECTD2_ENST00000371681.4_Missense_Mutation_p.P163S|HECTD2_ENST00000298068.5_Missense_Mutation_p.P163S			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	163					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TGATTCTTTCCCAGAATTAAA	0.269													20	80					0	0	0	0	T	93221090	C	T	93221090	3	4	159	1	0	0	0	0	1	0	0	0	7090	623	22	4	501	4	HECTD2	10	93221090	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	7203429	93221090	42313657	270	28785											
BTAF1	9044	broad.mit.edu	37	chr10	93716353	93716353	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgttgttattaatcagtCtgcaaatgattccaaagtct	14	15	6	6	0	3	1	1	1	2	0	4	1	4	1	1	0	1	3	1	0	5	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:93716353C>G	ENST00000265990.6	+	7	1078	c.770C>G	c.(769-771)tCt>tGt	p.S257C		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	257					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTAATCAGTCTGCAAATGAT	0.333													14	25					0	0	0	0	G	93716353	C	G	93716353	3	3	159	1	0	0	0	0	1	0	0	0	1544	913	32	2	796	2	BTAF1	10	93716353	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	495263	93716353	41818394	271	28786											
TLL2	7093	broad.mit.edu	37	chr10	98157020	98157020	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccagagccggctgtccgtgGagacgaggggctccgggatc	6	5	17	13	4	0	2	0	0	0	2	3	5	2	3	4	5	1	2	4	5	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:98157020G>C	ENST00000357947.3	-	11	1532	c.1307C>G	c.(1306-1308)tCc>tGc	p.S436C	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	436	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCTGTCCGTGGAGACGAGGGG	0.572													24	48					0	0	0	0	C	98157020	G	C	98157020	3	2	159	1	0	0	0	0	1	0	0	0	16040	1174	41	2	1784	2	TLL2	10	98157020	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	4440667	98157020	37377727	272	28787											
PSD	5662	broad.mit.edu	37	chr10	104163154	104163154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgccttcagcttgacccGaagcagcgctgcataggtgc	7	8	12	14	2	1	1	1	1	0	0	1	2	1	1	3	1	6	4	3	1	2	3	rs142273937		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:104163154G>A	ENST00000020673.5	-	17	3404	c.2878C>T	c.(2878-2880)Cgg>Tgg	p.R960W	PSD_ENST00000406432.1_Missense_Mutation_p.R960W	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	960					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGCTTGACCCGAAGCAGCGCT	0.632													13	37					0	0	0	0	A	104163154	G	A	104163154	3	1	159	1	0	0	0	0	1	0	0	0	12725	1057	37	1	200	1	PSD	10	104163154	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	6006134	104163154	31371593	273	28788											
TCF7L2	6934	broad.mit.edu	37	chr10	114925636	114925636	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgccgccccctcctcatcaAttgcacagccgtcgacttct	6	10	6	19	3	3	0	2	0	1	0	5	1	4	0	5	0	3	1	5	0	1	2	rs61724286		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:114925636A>G	ENST00000545257.1	+	15	2272	c.1765A>G	c.(1765-1767)Att>Gtt	p.I589V	TCF7L2_ENST00000536810.1_Missense_Mutation_p.I572V|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000543371.1_Missense_Mutation_p.I572V|TCF7L2_ENST00000542695.1_Missense_Mutation_p.I305V|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369397.4_Missense_Mutation_p.I566V|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000355995.4_Missense_Mutation_p.I589V			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	589					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTCCTCATCAATTGCACAGCC	0.642			T	VTI1A	colorectal								29	83					0	0	0	0	G	114925636	A	G	114925636	3	3	159	1	0	0	0	0	1	0	0	0	15792	101	4	5	2045	5	TCF7L2	10	114925636	Missense_Mutation	SNP	A	TCGA-CQ-7071-01A-12D-A30E-08	10762482	114925636	20609111	274	28789											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118385516	118385516	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttccaactggaccgcaaGacacgcttcatcatccatgg	12	8	7	14	2	2	1	2	0	0	1	4	2	4	2	3	2	2	2	3	2	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:118385516G>C	ENST00000537242.1	+	0	290				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	p.K88K(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGGACCGCAAGACACGCTTCA	0.498													16	26					0	0	0	0	C	118385516	G	C	118385516	1	2	159	0	1	0	0	0	0	0	0	0	12223	933	33	2		2	PNLIPRP2	10	118385516	RNA	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3459880	118385516	17149231	275	28790											
DPYSL4	10570	broad.mit.edu	37	chr10	134006208	134006208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggggcatcaagaccattGacgcccacggcctgatggtc	8	7	13	13	2	1	3	1	2	0	1	2	3	1	3	3	4	0	1	3	4	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:134006208G>A	ENST00000338492.4	+	3	339	c.175G>A	c.(175-177)Gac>Aac	p.D59N	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368629.1_5'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	59					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CAAGACCATTGACGCCCACGG	0.577													19	52					0	0	0	0	A	134006208	G	A	134006208	3	1	159	1	0	0	0	0	1	0	0	0	4785	1290	45	2	185	2	DPYSL4	10	134006208	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	15620692	134006208	1528539	276	28791											
GPR123	84435	broad.mit.edu	37	chr10	134896287	134896287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgccgtccccctgtaaGcctggatgcgtgtgccaggg	4	9	14	14	2	0	0	0	0	0	0	1	1	1	1	6	2	4	1	6	2	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:134896287G>C	ENST00000607359.1	+	7	1299	c.1299G>C	c.(1297-1299)aaG>aaC	p.K433N				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCCCCTGTAAGCCTGGATGCG	0.657													8	10					0	0	0	0	C	134896287	G	C	134896287	3	2	159	1	0	0	0	0	1	0	0	0	6686	986	34	4		4	GPR123	10	134896287	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	890079	134896287	638460	277	28792											
HRAS	3265	broad.mit.edu	37	chr11	534285	534285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcgcactcttgcccacaCcgccggcgcccaccaccacc	7	4	7	23	4	2	0	1	0	1	0	2	0	2	0	7	1	2	1	7	1	0	1	rs104894226		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:534285C>A	ENST00000417302.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			12	43					6.31663e-08	6.55058e-08	1	0	A	534285	C	A	534285	3	1	159	1	0	0	0	0	1	0	0	0	7398	507	18	4	614	4	HRAS	11	534285	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08		534285	134472231	278	28793											
MUC6	4588	broad.mit.edu	37	chr11	1016850	1016850	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaggatgttgcagtcAtaggacctgtggaagagaag	12	9	15	5	0	2	1	1	0	1	1	2	6	2	5	1	4	1	2	1	4	4	2	rs71472140		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:1016850A>G	ENST00000421673.2	-	31	6001	c.5951T>C	c.(5950-5952)aTg>aCg	p.M1984T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				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)		TGTTGCAGTCATAGGACCTGT	0.587													22	1900					0	0	0	0	G	1016850	A	G	1016850	3	3	159	1	0	0	0	0	1	0	0	0	10050	217	8	5	1380	5	MUC6	11	1016850	Missense_Mutation	SNP	A	TCGA-CQ-7071-01A-12D-A30E-08	482565	1016850	133989666	279	28794											
MUC6	4588	broad.mit.edu	37	chr11	1017057	1017057	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggtaaggtagggatgtaGaagttttggccgtgctaaat	10	13	15	3	1	0	1	0	0	0	1	0	2	0	2	1	4	1	5	1	4	6	6	rs71472140		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:1017057G>C	ENST00000421673.2	-	31	5794	c.5744C>G	c.(5743-5745)tCt>tGt	p.S1915C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1915	Approximate repeats.|Thr-rich.				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)		TAGGGATGTAGAAGTTTTGGC	0.547													94	945					0	0	0	0	C	1017057	G	C	1017057	3	2	159	1	0	0	0	0	1	0	0	0	10050	942	33	2	1587	2	MUC6	11	1017057	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	207	1017057	133989459	280	28795											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1642821	1642821	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaggatgacccacaacctGaggaggagcagcagggctta	13	4	14	10	0	0	2	0	2	0	0	0	5	0	5	2	4	4	4	2	4	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:1642821G>C	ENST00000399682.1	-	1	547	c.503C>G	c.(502-504)tCa>tGa	p.S168*		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	228	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAACCTGAGGAGGAGCA	0.617													89	254					0	0	0	0	C	1642821	G	C	1642821	4	2	159	1	0	0	0	0	0	1	0	0	8616	1294	45	2	187	2	KRTAP5-4	11	1642821	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	625764	1642821	133363695	281	28796											
ARFIP2	23647	broad.mit.edu	37	chr11	6500028	6500028	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacccagtgcatgctgggtCtgcagcaggctgtagaggtg	7	9	15	10	0	2	1	1	0	1	1	2	1	2	1	1	3	4	6	1	3	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:6500028C>T	ENST00000254584.2	-	5	560	c.477G>A	c.(475-477)caG>caA	p.Q159Q	ARFIP2_ENST00000445086.2_Silent_p.Q74Q|ARFIP2_ENST00000396777.3_Silent_p.Q159Q|ARFIP2_ENST00000525235.1_Silent_p.Q159Q|ARFIP2_ENST00000423813.2_Silent_p.Q121Q	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	159	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATGCTGGGTCTGCAGCAGGC	0.597													13	29					0	0	0	0	T	6500028	C	T	6500028	2	4	159	1	0	0	0	0	0	0	0	1	857	912	32	2		2	ARFIP2	11	6500028	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	4857207	6500028	128506488	282	28797											
OR2D3	120775	broad.mit.edu	37	chr11	6943159	6943159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccataatttatagcttgagGaacaaagatgtcaaaggggc	15	9	10	7	0	1	2	1	1	0	1	1	3	1	3	1	3	2	1	1	3	6	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:6943159G>C	ENST00000317834.3	+	1	955	c.927G>C	c.(925-927)agG>agC	p.R309S		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATAGCTTGAGGAACAAAGATG	0.423													22	74					0	0	0	0	C	6943159	G	C	6943159	3	2	159	1	0	0	0	0	1	0	0	0	11066	1165	41	2	929	2	OR2D3	11	6943159	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	443131	6943159	128063357	283	28798											
ST5	6764	broad.mit.edu	37	chr11	8739320	8739320	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgttgtacttcctgtcctGaggactccacatcctgtgca	6	13	9	13	0	0	1	0	1	0	0	4	2	4	2	4	1	2	4	4	1	1	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:8739320G>A	ENST00000534127.1	-	8	1982	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*	ST5_ENST00000530991.1_Nonsense_Mutation_p.Q5*|ST5_ENST00000526757.1_Nonsense_Mutation_p.Q113*|ST5_ENST00000526099.1_Nonsense_Mutation_p.Q46*|ST5_ENST00000530438.1_Nonsense_Mutation_p.Q113*|ST5_ENST00000313726.6_Nonsense_Mutation_p.Q533*|ST5_ENST00000357665.1_Nonsense_Mutation_p.Q533*	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	533					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTCCTGTCCTGAGGACTCCAC	0.552													14	42					0	0	0	0	A	8739320	G	A	8739320	4	1	159	1	0	0	0	0	0	1	0	0	15310	1299	45	2	1880	2	ST5	11	8739320	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1796161	8739320	126267196	284	28799											
LDHAL6A	160287	broad.mit.edu	37	chr11	18500318	18500318	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctgggagagaatggtatCacagacctcataaaagtaaa	17	8	9	7	0	2	2	2	0	0	2	3	4	3	3	2	2	0	2	2	2	6	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:18500318C>T	ENST00000280706.2	+	7	1697	c.900C>T	c.(898-900)atC>atT	p.I300I	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Silent_p.I300I	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	300					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	AGAATGGTATCACAGACCTCA	0.378													61	176					0	0	0	0	T	18500318	C	T	18500318	2	4	159	1	0	0	0	0	0	0	0	1	8752	816	29	2		2	LDHAL6A	11	18500318	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	9760998	18500318	116506198	285	28800											
DBX1	120237	broad.mit.edu	37	chr11	20178619	20178619	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagcttggccgccagcttCttgcggtcgggcttgctgat	3	11	13	14	3	1	1	0	1	1	0	2	1	1	1	3	3	4	4	3	3	0	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:20178619C>G	ENST00000524983.2	-	3	924	c.636G>C	c.(634-636)aaG>aaC	p.K212N	DBX1_ENST00000227256.3_Missense_Mutation_p.K212N			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	212					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K212N(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CCGCCAGCTTCTTGCGGTCGG	0.667													10	44					0	0	0	0	G	20178619	C	G	20178619	3	3	159	1	0	0	0	0	1	0	0	0	4292	912	32	2	520	2	DBX1	11	20178619	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1678301	20178619	114827897	286	28801											
CD59	966	broad.mit.edu	37	chr11	33738937	33738937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttggtaatgagacacgCatcaaaatcagatgaacaat	17	9	8	7	1	2	3	2	2	0	2	2	4	2	3	0	1	2	3	0	1	5	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:33738937C>T	ENST00000395850.3	-	3	223	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	CD59_ENST00000533403.1_Missense_Mutation_p.A50T|CD59_ENST00000534312.1_Missense_Mutation_p.A50T|CD59_ENST00000351554.3_Missense_Mutation_p.A50T|CD59_ENST00000415002.2_Missense_Mutation_p.A50T|CD59_ENST00000528700.1_Missense_Mutation_p.A50T|CD59_ENST00000437761.2_Missense_Mutation_p.A50T|CD59_ENST00000445143.2_Missense_Mutation_p.A50T|CD59_ENST00000426650.2_Missense_Mutation_p.A50T|CD59_ENST00000527577.1_Missense_Mutation_p.A50T	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	50	UPAR/Ly6.				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction				endometrium(1)|lung(2)	3						ATGAGACACGCATCAAAATCA	0.448													8	18					0	0	0	0	T	33738937	C	T	33738937	3	4	159	1	0	0	0	0	1	0	0	0	3055	710	25	4	246	4	CD59	11	33738937	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	13560318	33738937	101267579	287	28802											
DDB2	1643	broad.mit.edu	37	chr11	47259551	47259551	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatcttctggcatcagttCggtgaggcttgggtcctcaa	8	12	12	9	1	4	2	2	1	2	1	6	2	5	2	1	4	0	3	1	4	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:47259551C>T	ENST00000256996.4	+	8	1382	c.1188_splice	c.e8+1	p.S396_splice	DDB2_ENST00000378600.3_Splice_Site_p.S207_splice|DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378603.3_Splice_Site_p.S332_splice	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	396					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	p.S396L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GGCATCAGTTCGGTGAGGCTT	0.463			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				29	38					0	0	0	0	T	47259551	C	T	47259551	5	4	159	1	0	0	0	0	0	0	1	0	4356	898	31	1	1217	1	DDB2	11	47259551	Splice_Site	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	13520614	47259551	87746965	288	28803											
OR4S2	219431	broad.mit.edu	37	chr11	55418836	55418836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggtaggtgggttcttaCactccattatccaagtggct	7	13	12	9	1	1	0	0	0	1	0	3	0	3	0	2	4	1	3	2	4	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:55418836C>A	ENST00000312422.2	+	1	457	c.457C>A	c.(457-459)Cac>Aac	p.H153N		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	153					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)				TGGGTTCTTACACTCCATTAT	0.433													80	171					9.59377e-39	1.0572e-38	1	0	A	55418836	C	A	55418836	3	1	159	1	0	0	0	0	1	0	0	0	11154	478	17	4	459	4	OR4S2	11	55418836	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	8159285	55418836	79587680	289	28804											
OR5M8	219484	broad.mit.edu	37	chr11	56258304	56258304	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccagcttaatcagtggTgggtccgcacagtagaagtg	11	8	13	9	1	1	1	1	0	0	1	2	1	2	1	2	2	2	3	2	2	4	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:56258304T>A	ENST00000327216.2	-	1	567	c.543A>T	c.(541-543)ccA>ccT	p.P181P		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TAATCAGTGGTGGGTCCGCAC	0.463													35	100					0	0	0	0	A	56258304	T	A	56258304	2	1	159	1	0	0	0	0	0	0	0	1	11247	1683	59	5		5	OR5M8	11	56258304	Silent	SNP	T	TCGA-CQ-7071-01A-12D-A30E-08	839468	56258304	78748212	290	28805											
OR5AR1	219493	broad.mit.edu	37	chr11	56431941	56431941	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtcatgtttatgtacctGaggccaacatccagctactc	11	11	7	12	0	1	1	1	1	0	0	3	1	2	1	3	1	4	3	3	1	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:56431941G>C	ENST00000302969.2	+	1	804	c.780G>C	c.(778-780)ctG>ctC	p.L260L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TTATGTACCTGAGGCCAACAT	0.512													33	74					0	0	0	0	C	56431941	G	C	56431941	2	2	159	1	0	0	0	0	0	0	0	1	11216	1277	45	2		2	OR5AR1	11	56431941	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	173637	56431941	78574575	291	28806											
OR9G1	390174	broad.mit.edu	37	chr11	56468763	56468764	+	Frame_Shift_Ins	INS	-	-	A																															aggatgtgaaagaggctctgINSaaaaaacttctcccataaat																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:56468763_56468764insA	ENST00000312153.1	+	1	900_901	c.900_901insA	c.(898-903)ctaaaafs	p.LK300fs		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AAGAGGCTCTGAAAAAACTTCT	0.376													10	123	---	---	---	---					A	56468764	-	A	56468763	7	5	159	1	0	1	1	0	0	0	0	0	11321	1277	45	0	902	0	OR9G1	11	56468763	Frame_Shift_Ins	INS	-	TCGA-CQ-7071-01A-12D-A30E-08	36822	56468763	78537753	292	28807											
MTA2	9219	broad.mit.edu	37	chr11	62362519	62362519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttcaatggagtcttggCggccttaggaagtcgaatgg	10	11	13	7	2	3	0	1	0	2	0	4	3	3	2	1	5	0	0	1	5	5	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:62362519C>T	ENST00000278823.2	-	15	1896	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	MTA2_ENST00000524902.1_Missense_Mutation_p.A330T|MTA2_ENST00000527204.1_Missense_Mutation_p.A330T	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	503					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A503T(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGAGTCTTGGCGGCCTTAGGA	0.527													4	205					0	0	0	0	T	62362519	C	T	62362519	3	4	159	1	0	0	0	0	1	0	0	0	9979	768	27	1	515	1	MTA2	11	62362519	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5893756	62362519	72643997	293	28808											
MTA2	9219	broad.mit.edu	37	chr11	62363756	62363756	+	Frame_Shift_Del	DEL	G	G	-																															acccaccacacttactaggtGggaatgtagacctgtttcag																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:62363756delG	ENST00000278823.2	-	11	1400	c.1011delC	c.(1009-1011)ccfs	p.P337fs	MTA2_ENST00000527204.1_Frame_Shift_Del_p.P164fs|MTA2_ENST00000524902.1_Frame_Shift_Del_p.P164fs	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	337					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CTTACTAGGTGGGAATGTAGA	0.502													17	23	---	---	---	---					-	62363756	G	-	62363756	7	5	159	1	0	1	0	1	0	0	0	0	9979	1335	47	0	1027	0	MTA2	11	62363756	Frame_Shift_Del	DEL	G	TCGA-CQ-7071-01A-12D-A30E-08	1237	62363756	72642760	294	28809											
EML3	256364	broad.mit.edu	37	chr11	62374473	62374473	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcttggaatctgaagggctCcgcccccaggtgagaatgtt	8	10	13	10	1	2	2	0	2	2	1	3	4	3	3	3	3	0	2	3	3	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:62374473C>T	ENST00000394773.2	-	12	1768	c.1461G>A	c.(1459-1461)cgG>cgA	p.R487R	EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Silent_p.R270R|EML3_ENST00000494176.2_Silent_p.R459R|EML3_ENST00000278845.4_Silent_p.R488R|EML3_ENST00000529309.1_Silent_p.R487R	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	487						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTGAAGGGCTCCGCCCCCAGG	0.542													20	48					0	0	0	0	T	62374473	C	T	62374473	2	4	159	1	0	0	0	0	0	0	0	1	5136	842	30	2		2	EML3	11	62374473	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	10717	62374473	72632043	295	28810											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62489831	62489831	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcttggagaaggaaagttCtacttcttcagtctcaaaat	13	14	7	7	0	5	1	2	0	4	1	6	3	5	2	0	2	1	1	0	2	5	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:62489831C>G	ENST00000301785.5	-	7	1309	c.1117G>C	c.(1117-1119)Gaa>Caa	p.E373Q	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E373Q	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	373	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAGGAAAGTTCTACTTCTTCA	0.443													40	93					0	0	0	0	G	62489831	C	G	62489831	3	3	159	1	0	0	0	0	1	0	0	0	7325	922	32	2	1158	2	HNRNPUL2	11	62489831	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	115358	62489831	72516685	296	28811											
TAF6L	10629	broad.mit.edu	37	chr11	62543912	62543912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgacggttgaggacttCaacagggccctcagatggag	11	7	14	9	1	2	3	2	2	0	1	2	5	2	5	1	4	2	2	1	4	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:62543912C>A	ENST00000294168.3	+	3	405	c.204C>A	c.(202-204)ttC>ttA	p.F68L	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	68					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TTGAGGACTTCAACAGGGCCC	0.572													19	51					3.32936e-07	3.41245e-07	1	0	A	62543912	C	A	62543912	3	1	159	1	0	0	0	0	1	0	0	0	15622	825	29	2	210	2	TAF6L	11	62543912	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	54081	62543912	72462604	297	28812											
SUV420H1	51111	broad.mit.edu	37	chr11	67942577	67942577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caaacatttgaaggctttctCcaagtgttcatctttcttaa	11	16	5	9	0	4	1	1	1	3	0	5	1	4	1	1	1	1	2	1	1	4	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:67942577C>G	ENST00000304363.4	-	5	804	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	SUV420H1_ENST00000401547.2_Missense_Mutation_p.E151Q|SUV420H1_ENST00000405515.1_Missense_Mutation_p.E151Q|SUV420H1_ENST00000402789.1_Missense_Mutation_p.E151Q|SUV420H1_ENST00000402185.2_Missense_Mutation_p.E128Q	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAGGCTTTCTCCAAGTGTTCA	0.353													7	25					0	0	0	0	G	67942577	C	G	67942577	3	3	159	1	0	0	0	0	1	0	0	0	15504	864	30	2	2242	2	SUV420H1	11	67942577	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5398665	67942577	67063939	298	28813											
GAL	51083	broad.mit.edu	37	chr11	68455511	68455511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaccacaggtcattcagcGacaagaatggcctcaccagc	13	5	9	14	1	3	1	3	0	0	1	3	2	3	1	3	2	3	1	3	2	3	1	rs149894151		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:68455511G>A	ENST00000265643.3	+	4	424	c.166G>A	c.(166-168)Gac>Aac	p.D56N		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	56					growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		GTCATTCAGCGACAAGAATGG	0.592													12	48					0	0	0	0	A	68455511	G	A	68455511	3	1	159	1	0	0	0	0	1	0	0	0	6245	1058	37	1	176	1	GAL	11	68455511	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	512934	68455511	66551005	299	28814											
PGM2L1	283209	broad.mit.edu	37	chr11	74054047	74054047	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctttatccaaaactgaagttCcacagagaaaacctgaggat	16	9	7	9	0	0	3	0	2	0	1	2	5	2	4	3	1	2	1	3	1	6	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:74054047C>G	ENST00000298198.4	-	11	1636	c.1325G>C	c.(1324-1326)gGa>gCa	p.G442A		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	442					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					AACTGAAGTTCCACAGAGAAA	0.383													26	81					0	0	0	0	G	74054047	C	G	74054047	3	3	159	1	0	0	0	0	1	0	0	0	11871	855	30	2	559	2	PGM2L1	11	74054047	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5598536	74054047	60952469	300	28815											
INTS4	92105	broad.mit.edu	37	chr11	77652273	77652273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggtctgctccaagaaatGagaactgacttgctccatag	13	9	10	9	0	1	3	0	2	1	2	3	4	3	3	2	1	3	2	2	1	5	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:77652273G>A	ENST00000534064.1	-	9	977	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	INTS4_ENST00000529807.1_Missense_Mutation_p.H315Y	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	315					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TCCAAGAAATGAGAACTGACT	0.358													12	28					0	0	0	0	A	77652273	G	A	77652273	3	1	159	1	0	0	0	0	1	0	0	0	7833	1290	45	2	2008	2	INTS4	11	77652273	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3598226	77652273	57354243	301	28816											
SIK3	23387	broad.mit.edu	37	chr11	116767027	116767027	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcacgcgggcccgcagattCtgcagtgtgcttccatcaaa	9	8	11	13	3	2	1	1	0	1	1	3	1	3	1	2	1	3	4	2	1	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:116767027C>G	ENST00000375300.1	-	6	812	c.807G>C	c.(805-807)caG>caC	p.Q269H	SIK3_ENST00000446921.2_Missense_Mutation_p.Q269H|SIK3_ENST00000292055.4_Missense_Mutation_p.Q211H|SIK3_ENST00000434315.2_Missense_Mutation_p.Q110H|SIK3_ENST00000542607.1_Missense_Mutation_p.Q211H|SIK3_ENST00000375288.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	211						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CCCGCAGATTCTGCAGTGTGC	0.507													31	88					0	0	0	0	G	116767027	C	G	116767027	3	3	159	1	0	0	0	0	1	0	0	0	14407	912	32	2	3230	2	SIK3	11	116767027	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	39114754	116767027	18239489	302	28817											
IQSEC3	440073	broad.mit.edu	37	chr12	274962	274962	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaagcaggtgctgcatttCtgtgccctgggctcggacga	8	9	14	10	2	1	1	0	0	1	1	2	3	1	2	1	3	4	4	1	3	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:274962C>G	ENST00000538872.1	+	11	2995	c.2877C>G	c.(2875-2877)ttC>ttG	p.F959L	RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.F656L|IQSEC3_ENST00000326261.4_Missense_Mutation_p.F959L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	959	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGCTGCATTTCTGTGCCCTGG	0.587													22	47					0	0	0	0	G	274962	C	G	274962	3	3	159	1	0	0	0	0	1	0	0	0	7872	912	32	2	2919	2	IQSEC3	12	274962	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08		274962	133576933	303	28818											
RAD52	5893	broad.mit.edu	37	chr12	1025635	1025635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggcctcgctctccacggcgGatgagctcaggcttctgcat	5	10	12	14	3	3	1	1	1	2	0	5	2	3	2	2	4	2	4	2	4	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:1025635G>C	ENST00000358495.3	-	9	878	c.740C>G	c.(739-741)tCc>tGc	p.S247C	RAD52_ENST00000430095.2_Missense_Mutation_p.S247C|RAD52_ENST00000536177.1_Missense_Mutation_p.I264M|RAD52_ENST00000539046.1_Missense_Mutation_p.S170C|RAD52_ENST00000535376.1_5'UTR	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	247					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CTCCACGGCGGATGAGCTCAG	0.682								Homologous recombination					11	18					0	0	0	0	C	1025635	G	C	1025635	3	2	159	1	0	0	0	0	1	0	0	0	13073	1174	41	2	532	2	RAD52	12	1025635	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	750673	1025635	132826260	304	28819											
ERC1	23085	broad.mit.edu	37	chr12	1192678	1192678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagacgactggcagaggcaGagatgcacgttcatcaccta	13	6	11	11	2	2	3	2	0	0	3	2	5	2	3	1	2	1	4	1	2	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:1192678G>A	ENST00000397203.2	+	3	1424	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	ERC1_ENST00000355446.5_Missense_Mutation_p.E340K|ERC1_ENST00000589028.1_Missense_Mutation_p.E340K|ERC1_ENST00000543086.3_Missense_Mutation_p.E340K|ERC1_ENST00000546231.2_Missense_Mutation_p.E340K|ERC1_ENST00000360905.4_Missense_Mutation_p.E340K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	340					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGCAGAGGCAGAGATGCACGT	0.428													35	96					0	0	0	0	A	1192678	G	A	1192678	3	1	159	1	0	0	0	0	1	0	0	0	5248	943	33	2	1024	2	ERC1	12	1192678	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	167043	1192678	132659217	305	28820											
PZP	5858	broad.mit.edu	37	chr12	9303306	9303306	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctactgggatgtcttgcaGaaccatgaaggaaaaactta	14	10	9	8	0	1	2	0	1	1	1	2	4	2	4	2	2	4	1	2	2	6	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:9303306G>A	ENST00000261336.2	-	34	4346	c.4318C>T	c.(4318-4320)Ctg>Ttg	p.L1440L	PZP_ENST00000381997.2_Silent_p.L1226L	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATGTCTTGCAGAACCATGAAG	0.393													22	59					0	0	0	0	A	9303306	G	A	9303306	2	1	159	1	0	0	0	0	0	0	0	1	12951	933	33	2		2	PZP	12	9303306	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	8110628	9303306	124548589	306	28821											
PPFIBP1	8496	broad.mit.edu	37	chr12	27800738	27800738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttttgtcttgaagagcacaGagagaaggtgaatgccacag	13	9	13	6	0	1	5	0	2	1	3	1	6	1	5	1	1	2	2	1	1	3	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:27800738G>C	ENST00000318304.8	+	6	717	c.434G>C	c.(433-435)aGa>aCa	p.R145T	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.R145T|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.R145T|PPFIBP1_ENST00000537927.1_5'UTR|PPFIBP1_ENST00000535047.1_Missense_Mutation_p.R145T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	145					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAAGAGCACAGAGAGAAGGTG	0.453													41	103					0	0	0	0	C	27800738	G	C	27800738	3	2	159	1	0	0	0	0	1	0	0	0	12384	942	33	2	448	2	PPFIBP1	12	27800738	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	18497432	27800738	106051157	307	28822											
C12orf40	283461	broad.mit.edu	37	chr12	40078724	40078724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcatgggactttggacttGatgaggtaaagcacagtctc	11	11	12	7	0	2	2	1	2	1	0	3	4	2	4	0	3	1	2	0	3	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:40078724G>C	ENST00000324616.5	+	10	1496	c.1342G>C	c.(1342-1344)Gat>Cat	p.D448H	C12orf40_ENST00000405531.3_Missense_Mutation_p.D448H	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	448										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTTTGGACTTGATGAGGTAAA	0.353													23	39					0	0	0	0	C	40078724	G	C	40078724	3	2	159	1	0	0	0	0	1	0	0	0	1698	1290	45	2	1380	2	C12orf40	12	40078724	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	12277986	40078724	93773171	308	28823											
LRRK2	120892	broad.mit.edu	37	chr12	40626086	40626086	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttttcaggtgggttggtCacttctgtgcaaattaatag	8	17	11	5	0	3	0	2	0	1	0	3	0	3	0	0	3	1	3	0	3	3	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:40626086C>G	ENST00000298910.7	+	3	306	c.248C>G	c.(247-249)tCa>tGa	p.S83*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.S83*	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	83					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTGGGTTGGTCACTTCTGTGC	0.388													18	47					0	0	0	0	G	40626086	C	G	40626086	4	3	159	1	0	0	0	0	0	1	0	0	9097	838	29	2	258	2	LRRK2	12	40626086	Nonsense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	547362	40626086	93225809	309	28824											
ADAMTS20	80070	broad.mit.edu	37	chr12	43823505	43823505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcaagtttagaaataaatGagcaaggtgtaagtacacag	17	10	9	5	0	1	2	1	1	1	1	2	2	1	2	0	1	2	4	0	1	8	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:43823505G>A	ENST00000389420.3	-	24	3403	c.3404C>T	c.(3403-3405)tCa>tTa	p.S1135L	ADAMTS20_ENST00000395541.2_Intron|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S1135L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1135	TSP type-1 6.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGAAATAAATGAGCAAGGTGT	0.343													4	7					0	0	0	0	A	43823505	G	A	43823505	3	1	159	1	0	0	0	0	1	0	0	0	266	1294	45	2	2391	2	ADAMTS20	12	43823505	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3197419	43823505	90028390	310	28825											
DDX23	9416	broad.mit.edu	37	chr12	49230515	49230515	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcatctaactttttctgaGaccaatgacgatcatcccag	11	13	5	12	1	4	2	2	2	3	1	6	4	5	2	2	0	1	0	2	0	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:49230515G>C	ENST00000308025.3	-	10	1152	c.1073C>G	c.(1072-1074)tCt>tGt	p.S358C		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	358						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.S358F(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTTTTCTGAGACCAATGACG	0.532													56	183					0	0	0	0	C	49230515	G	C	49230515	3	2	159	1	0	0	0	0	1	0	0	0	4382	942	33	2	1421	2	DDX23	12	49230515	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	5407010	49230515	84621380	311	28826											
LARP4	113251	broad.mit.edu	37	chr12	50855032	50855032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaactttccagctgaacgGcataaccccacagtaactgg	14	7	8	12	1	0	2	0	1	0	1	1	2	1	2	3	2	5	3	3	2	4	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:50855032G>A	ENST00000398473.2	+	11	1348	c.1236G>A	c.(1234-1236)cgG>cgA	p.R412R	LARP4_ENST00000518444.1_Silent_p.R411R|LARP4_ENST00000522085.1_Silent_p.R412R|LARP4_ENST00000293618.8_Intron|LARP4_ENST00000429001.3_Silent_p.R418R|LARP4_ENST00000347328.5_Silent_p.R341R|LARP4_ENST00000518561.1_Silent_p.R342R	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	412							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CAGCTGAACGGCATAACCCCA	0.488													4	134					0	0	0	0	A	50855032	G	A	50855032	2	1	159	1	0	0	0	0	0	0	0	1	8683	1190	42	4		4	LARP4	12	50855032	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1624517	50855032	82996863	312	28827											
SCN8A	6334	broad.mit.edu	37	chr12	52200305	52200305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttgcatatgtgaagcacGaggctggtatcgatgacatg	11	12	12	6	2	0	2	0	2	0	0	1	4	0	2	0	2	2	4	0	2	3	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:52200305G>A	ENST00000354534.5	+	27	5213	c.5035G>A	c.(5035-5037)Gag>Aag	p.E1679K	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1638K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1679					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGTGAAGCACGAGGCTGGTAT	0.478													71	54					0	0	0	0	A	52200305	G	A	52200305	3	1	159	1	0	0	0	0	1	0	0	0	14011	1059	37	1	5137	1	SCN8A	12	52200305	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1345273	52200305	81651590	313	28828											
KRT78	196374	broad.mit.edu	37	chr12	53238402	53238402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcgatctcctcgtaccGggcgcggacctcagtgatga	6	7	14	14	6	2	2	1	2	1	0	4	4	2	3	4	3	1	1	4	3	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:53238402G>A	ENST00000359499.4	-	5	543	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	KRT78_ENST00000304620.4_Missense_Mutation_p.R288W			Q8N1N4	K2C78_HUMAN	keratin 78	288	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TCCTCGTACCGGGCGCGGACC	0.632													4	101					0	0	0	0	A	53238402	G	A	53238402	3	1	159	1	0	0	0	0	1	0	0	0	8543	1115	39	1	720	1	KRT78	12	53238402	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1038097	53238402	80613493	314	28829											
HOXC6	3223	broad.mit.edu	37	chr12	54422559	54422559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggagaaagacatgctctCaaactgcagacaaaacacct	17	5	7	12	0	1	3	1	0	1	3	2	4	1	3	2	1	4	2	2	1	4	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:54422559C>T	ENST00000394331.3	+	2	1718	c.8C>T	c.(7-9)tCa>tTa	p.S3L	HOXC6_ENST00000243108.4_Missense_Mutation_p.S85L|HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	85					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GACATGCTCTCAAACTGCAGA	0.498													55	151					0	0	0	0	T	54422559	C	T	54422559	3	4	159	1	0	0	0	0	1	0	0	0	7365	838	29	2	256	2	HOXC6	12	54422559	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1184157	54422559	79429336	315	28830											
TIMELESS	8914	broad.mit.edu	37	chr12	56827433	56827433	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttgtgtcaagttcaccatCagtctgggagacaatgaagg	11	10	13	7	0	4	2	3	1	1	1	4	3	4	2	1	3	0	2	1	3	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:56827433C>T	ENST00000229201.4	-	4	409	c.255G>A	c.(253-255)ctG>ctA	p.L85L	TIMELESS_ENST00000554616.1_Silent_p.L85L|TIMELESS_ENST00000553532.1_Silent_p.L85L	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	85					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGTTCACCATCAGTCTGGGAG	0.478													43	103					0	0	0	0	T	56827433	C	T	56827433	2	4	159	1	0	0	0	0	0	0	0	1	15998	813	29	2		2	TIMELESS	12	56827433	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2404874	56827433	77024462	316	28831											
MYO1A	4640	broad.mit.edu	37	chr12	57432611	57432611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttgcccgcatagtggcaGatgcggaagcagctgaggcc	9	6	14	12	2	0	2	0	1	0	1	0	3	0	3	3	3	4	4	3	3	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:57432611G>C	ENST00000442789.2	-	17	1802	c.1515C>G	c.(1513-1515)atC>atG	p.I505M	MYO1A_ENST00000544473.1_Missense_Mutation_p.I343M|MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000300119.3_Missense_Mutation_p.I505M	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	505	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CATAGTGGCAGATGCGGAAGC	0.587													11	54					0	0	0	0	C	57432611	G	C	57432611	3	2	159	1	0	0	0	0	1	0	0	0	10138	932	33	2	1668	2	MYO1A	12	57432611	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	605178	57432611	76419284	317	28832											
MBD6	114785	broad.mit.edu	37	chr12	57919663	57919663	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctggtcctggggcccctGggaggggcccccacggtgga	3	5	17	16	1	0	0	0	0	0	0	1	2	1	2	7	8	0	0	7	8	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:57919663G>T	ENST00000355673.3	+	6	1268	c.912G>T	c.(910-912)ctG>ctT	p.L304L	MBD6_ENST00000431731.2_Silent_p.L304L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	304	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TGGGGCCCCTGGGAGGGGCCC	0.692													26	63					2.79863e-10	2.9319e-10	1	0	T	57919663	G	T	57919663	2	4	159	1	0	0	0	0	0	0	0	1	9417	1335	47	4		4	MBD6	12	57919663	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	487052	57919663	75932232	318	28833											
CYP27B1	1594	broad.mit.edu	37	chr12	58160730	58160730	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgccaagctccggcgtgctGagtggtactctcggtagcct	5	10	13	13	3	1	1	0	1	1	0	3	1	2	1	3	3	5	4	3	3	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:58160730G>C	ENST00000228606.4	-	1	304	c.95C>G	c.(94-96)tCa>tGa	p.S32*	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	32					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CCGGCGTGCTGAGTGGTACTC	0.642													42	185					0	0	0	0	C	58160730	G	C	58160730	4	2	159	1	0	0	0	0	0	1	0	0	4191	1294	45	2	1467	2	CYP27B1	12	58160730	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	241067	58160730	75691165	319	28834											
CAND1	55832	broad.mit.edu	37	chr12	67696303	67696303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcacgcatacctttctCttttgaagcaaactcgtcct	8	17	4	12	2	2	1	1	1	1	0	5	1	3	1	2	0	3	2	2	0	3	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:67696303C>A	ENST00000545606.1	+	8	1638	c.1201C>A	c.(1201-1203)Ctt>Att	p.L401I		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	401					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ATACCTTTCTCTTTTGAAGCA	0.433													51	88					1.21353e-23	1.32542e-23	1	0	A	67696303	C	A	67696303	3	1	159	1	0	0	0	0	1	0	0	0	2640	913	32	2	1231	2	CAND1	12	67696303	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	9535573	67696303	66155592	320	28835											
SLC17A8	246213	broad.mit.edu	37	chr12	100811824	100811824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggttttaatgtcaaccacCtggacattgccccacgctat	10	12	7	12	1	1	0	1	0	0	0	1	1	1	1	4	2	2	2	4	2	4	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:100811824C>A	ENST00000323346.5	+	11	1628	c.1315C>A	c.(1315-1317)Ctg>Atg	p.L439M	SLC17A8_ENST00000392989.3_Missense_Mutation_p.L389M|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	439					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGTCAACCACCTGGACATTGC	0.473													24	67					4.26978e-12	4.51146e-12	1	0	A	100811824	C	A	100811824	3	1	159	1	0	0	0	0	1	0	0	0	14511	680	24	4	1357	4	SLC17A8	12	100811824	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	33115521	100811824	33040071	321	28836											
STAB2	55576	broad.mit.edu	37	chr12	104033919	104033919	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtctcactgcgagtgtaagGagcattaccagaatttcgta	12	11	10	8	2	1	1	1	0	1	1	3	3	1	2	1	1	3	3	1	1	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:104033919G>T	ENST00000388887.2	+	9	1129	c.925G>T	c.(925-927)Gag>Tag	p.E309*		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	309					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CGAGTGTAAGGAGCATTACCA	0.403													24	86					9.95505e-16	1.06464e-15	1	0	T	104033919	G	T	104033919	4	4	159	1	0	0	0	0	0	1	0	0	15328	1175	41	2	959	2	STAB2	12	104033919	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3222095	104033919	29817976	322	28837											
SSH1	54434	broad.mit.edu	37	chr12	109182988	109182988	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggatttataggaaggcttCactttgttaaggatcccaaa	13	12	9	7	0	1	0	1	0	0	0	2	3	2	3	1	4	0	2	1	4	5	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:109182988C>T	ENST00000326495.5	-	15	2019	c.1926G>A	c.(1924-1926)gtG>gtA	p.V642V	SSH1_ENST00000360239.3_Silent_p.V330V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	642					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGAAGGCTTCACTTTGTTAA	0.542													5	10					0	0	0	0	T	109182988	C	T	109182988	2	4	159	1	0	0	0	0	0	0	0	1	15274	813	29	2		2	SSH1	12	109182988	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5149069	109182988	24668907	323	28838											
TBX3	6926	broad.mit.edu	37	chr12	115120855	115120855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcgagagcgccgccgCgccgttgggaggcagcgtca	6	3	18	14	8	1	1	1	0	0	1	1	3	1	2	3	3	3	3	3	3	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:115120855C>T	ENST00000349155.2	-	1	1114	c.151G>A	c.(151-153)Gcg>Acg	p.A51T	TBX3_ENST00000257566.3_Missense_Mutation_p.A51T	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	51					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AGCGCCGCCGCGCCGTTGGGA	0.721													14	58					0	0	0	0	T	115120855	C	T	115120855	3	4	159	1	0	0	0	0	1	0	0	0	15753	768	27	1	2112	1	TBX3	12	115120855	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5937867	115120855	18731040	324	28839											
TRIAP1	51499	broad.mit.edu	37	chr12	120882728	120882728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccatgaactccagtccttCaataggaatctctttctcct	9	13	5	14	0	3	1	1	1	2	0	7	2	5	2	4	1	1	0	4	1	4	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:120882728C>T	ENST00000546954.1	-	2	217	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	AL021546.6_ENST00000551806.1_Intron|TRIAP1_ENST00000302432.3_5'UTR	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1	60					anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	mitochondrion|perinuclear region of cytoplasm	caspase inhibitor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAGTCCTTCAATAGGAATC	0.388													55	130					0	0	0	0	T	120882728	C	T	120882728	3	4	159	1	0	0	0	0	1	0	0	0	16576	835	29	2	56	2	TRIAP1	12	120882728	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5761873	120882728	12969167	325	28840											
COQ5	84274	broad.mit.edu	37	chr12	120954375	120954375	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgcaggactcaccagctCtgtatccttgagccaaggct	8	11	9	13	0	3	1	1	1	2	0	4	2	4	2	3	2	3	4	3	2	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:120954375C>G	ENST00000288532.6	-	3	609	c.569G>C	c.(568-570)aGa>aCa	p.R190T	COQ5_ENST00000445328.2_Intron	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	190					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCACCAGCTCTGTATCCTTG	0.428													96	321					0	0	0	0	G	120954375	C	G	120954375	3	3	159	1	0	0	0	0	1	0	0	0	3778	913	32	2	434	2	COQ5	12	120954375	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	71647	120954375	12897520	326	28841											
HSPH1	10808	broad.mit.edu	37	chr13	31728851	31728851	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaacaacatggctgttatCtgctccacactaaatagatg	13	11	7	10	0	2	1	1	0	1	1	3	1	3	1	1	1	3	3	1	1	6	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:31728851C>T	ENST00000320027.5	-	4	692	c.348G>A	c.(346-348)caG>caA	p.Q116Q	HSPH1_ENST00000380406.5_Intron|HSPH1_ENST00000429785.2_Silent_p.Q13Q|HSPH1_ENST00000445273.2_Silent_p.Q118Q|HSPH1_ENST00000380405.4_Silent_p.Q116Q	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	116					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGGCTGTTATCTGCTCCACAC	0.348													17	43					0	0	0	0	T	31728851	C	T	31728851	2	4	159	1	0	0	0	0	0	0	0	1	7484	912	32	2		2	HSPH1	13	31728851	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08		31728851	83441027	327	28842											
BRCA2	675	broad.mit.edu	37	chr13	32915015	32915015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaccaaagtgtcacttgttGagaacattcatgttttggga	12	13	10	6	0	2	1	2	1	0	1	2	4	2	2	1	1	2	2	1	1	3	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:32915015G>C	ENST00000544455.1	+	11	6750	c.6523G>C	c.(6523-6525)Gag>Cag	p.E2175Q	BRCA2_ENST00000380152.3_Missense_Mutation_p.E2175Q	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2175					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTCACTTGTTGAGAACATTCA	0.323			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			10	28					0	0	0	0	C	32915015	G	C	32915015	3	2	159	1	0	0	0	0	1	0	0	0	1507	1291	45	2	6561	2	BRCA2	13	32915015	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1186164	32915015	82254863	328	28843											
UFM1	51569	broad.mit.edu	37	chr13	38933471	38933474	+	Splice_Site	DEL	GTGA	GTGA	-																															aaatcctgcacagactgctgGtgagtatttgaaaactcata																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:38933471_38933474delGTGA	ENST00000379641.1	+	4	244		c.e4+1		UFM1_ENST00000379649.1_Splice_Site|UFM1_ENST00000239878.4_Splice_Site			P61960	UFM1_HUMAN	ubiquitin-fold modifier 1						protein ufmylation	cytoplasm|nucleus	protein binding			lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		CAGACTGCTGGTGAGTATTTGAAA	0.314													30	97	---	---	---	---					-	38933474	GTGA	-	38933471	8	5	159	1	0	1	0	1	0	0	1	0	17032	1275	44	0	209	0	UFM1	13	38933471	Splice_Site	DEL	GTGA	TCGA-CQ-7071-01A-12D-A30E-08	6018456	38933471	76236407	329	28844											
ESD	2098	broad.mit.edu	37	chr13	47356861	47356861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaggatcttcagtggcatCaacataaaatccagcaccag	15	7	7	12	0	3	0	2	0	1	0	4	1	4	1	3	2	2	2	3	2	4	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:47356861C>T	ENST00000378720.3	-	6	504	c.322G>A	c.(322-324)Gat>Aat	p.D108N	ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_Missense_Mutation_p.D79N	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	108						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TCAGTGGCATCAACATAAAAT	0.383													32	77					0	0	0	0	T	47356861	C	T	47356861	3	4	159	1	0	0	0	0	1	0	0	0	5288	826	29	2	546	2	ESD	13	47356861	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	8423390	47356861	67813017	330	28845											
RB1	5925	broad.mit.edu	37	chr13	49033948	49033948	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaatgagtatgaactcatGagagacaggcatttggacca	15	8	11	7	0	1	5	1	3	0	2	1	7	1	6	1	2	1	2	1	2	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:49033948G>C	ENST00000267163.4	+	20	2223	c.2085G>C	c.(2083-2085)atG>atC	p.M695I		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	695	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGAACTCATGAGAGACAGGC	0.403		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			15	42					0	0	0	0	C	49033948	G	C	49033948	3	2	159	1	0	0	0	0	1	0	0	0	13180	1290	45	2	2163	2	RB1	13	49033948	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1677087	49033948	66135930	331	28846											
OLFM4	10562	broad.mit.edu	37	chr13	53624563	53624563	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggattgtgggttatttattCaactgaagccagcactggta	10	14	11	6	0	1	1	1	1	0	0	1	2	1	2	1	3	3	3	1	3	5	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:53624563C>G	ENST00000219022.2	+	5	1268	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	397	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GTTATTTATTCAACTGAAGCC	0.403													50	112					0	0	0	0	G	53624563	C	G	53624563	4	3	159	1	0	0	0	0	0	1	0	0	10926	838	29	2	1208	2	OLFM4	13	53624563	Nonsense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	4590615	53624563	61545315	332	28847											
PCDH9	5101	broad.mit.edu	37	chr13	67802233	67802233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attggggaggatcaccacctCaagttcaaagaaacactcat	15	8	8	10	0	4	1	4	0	0	1	4	3	4	3	2	3	1	1	2	3	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:67802233C>G	ENST00000544246.1	-	2	1031	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	PCDH9_ENST00000328454.5_Missense_Mutation_p.E114Q|PCDH9_ENST00000456367.1_Missense_Mutation_p.E114Q|PCDH9_ENST00000377861.3_Missense_Mutation_p.E114Q|PCDH9_ENST00000377865.2_Missense_Mutation_p.E114Q	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	114	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ATCACCACCTCAAGTTCAAAG	0.423													33	80					0	0	0	0	G	67802233	C	G	67802233	3	3	159	1	0	0	0	0	1	0	0	0	11589	835	29	2	3389	2	PCDH9	13	67802233	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	14177670	67802233	47367645	333	28848											
FAM155A	728215	broad.mit.edu	37	chr13	108518372	108518372	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgactccagttcctggcGcacaccgcgtccgcattctc	5	8	8	20	5	1	0	0	0	1	0	5	1	4	0	6	1	0	3	6	1	0	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:108518372G>A	ENST00000375915.2	-	1	711	c.573C>T	c.(571-573)tgC>tgT	p.C191C		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	191						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AGTTCCTGGCGCACACCGCGT	0.647													4	168					0	0	0	0	A	108518372	G	A	108518372	2	1	159	1	0	0	0	0	0	0	0	1	5506	1079	38	1		1	FAM155A	13	108518372	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	40716139	108518372	6651506	334	28849											
COL4A2	1284	broad.mit.edu	37	chr13	111155623	111155623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtgtttggtctcccaggaGaaaaaggtaacagtgcccat	11	10	12	8	0	1	1	0	0	1	1	2	2	1	1	2	3	2	2	2	3	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:111155623G>C	ENST00000360467.5	+	42	4339	c.4033G>C	c.(4033-4035)Gaa>Caa	p.E1345Q	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1345	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCTCCCAGGAGAAAAAGGTAA	0.627													13	31					0	0	0	0	C	111155623	G	C	111155623	3	2	159	1	0	0	0	0	1	0	0	0	3720	943	33	2	4195	2	COL4A2	13	111155623	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	2637251	111155623	4014255	335	28850											
TUBGCP3	10426	broad.mit.edu	37	chr13	113140342	113140342	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgccgccccctggtacccaGagacacacggagcctgggct	7	4	13	17	3	0	1	0	0	0	1	0	3	0	2	5	3	2	2	5	3	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:113140342G>C	ENST00000261965.3	-	22	2875	c.2689C>G	c.(2689-2691)Ctg>Gtg	p.L897V		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	897					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CTGGTACCCAGAGACACACGG	0.587													12	12					0	0	0	0	C	113140342	G	C	113140342	3	2	159	1	0	0	0	0	1	0	0	0	16863	933	33	2	38	2	TUBGCP3	13	113140342	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1984719	113140342	2029536	336	28851											
MRPL52	122704	broad.mit.edu	37	chr14	23303385	23303385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctgtctgtttcagagacGagttgtactgctgtcacagg	7	14	11	9	1	3	1	2	0	1	1	4	3	4	1	1	1	2	4	1	1	1	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:23303385G>A	ENST00000355151.5	+	5	257	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	MRPL52_ENST00000432849.3_Silent_p.T77T|MRPL52_ENST00000556840.1_Missense_Mutation_p.R17Q|MRPL52_ENST00000557221.1_Missense_Mutation_p.R4Q|MRPL52_ENST00000397505.2_Silent_p.T54T|MRPL52_ENST00000555536.1_Silent_p.T19T|MRPL52_ENST00000555345.1_Missense_Mutation_p.R17Q|MRPL52_ENST00000553711.1_Missense_Mutation_p.R17Q|MRPL52_ENST00000397496.3_Missense_Mutation_p.R75Q|MRPL52_ENST00000311892.6_Missense_Mutation_p.E13K	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	76					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TTTCAGAGACGAGTTGTACTG	0.443													20	35					0	0	0	0	A	23303385	G	A	23303385	3	1	159	1	0	0	0	0	1	0	0	0	9886	1058	37	1	245	1	MRPL52	14	23303385	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08		23303385	84046155	337	28852											
NOVA1	4857	broad.mit.edu	37	chr14	26917690	26917690	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgcttgactgagacctaaAcctaaagtgttgagattata	13	12	9	7	0	0	3	0	3	0	2	0	5	0	3	2	0	2	3	2	0	6	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:26917690A>G	ENST00000539517.2	-	5	1316	c.999T>C	c.(997-999)ggT>ggC	p.G333G	NOVA1_ENST00000465357.2_Silent_p.G309G|NOVA1_ENST00000267422.7_Silent_p.G211G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	336	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGAGACCTAAACCTAAAGTGT	0.502													10	31					0	0	0	0	G	26917690	A	G	26917690	2	3	159	1	0	0	0	0	0	0	0	1	10624	30	2	5		5	NOVA1	14	26917690	Silent	SNP	A	TCGA-CQ-7071-01A-12D-A30E-08	3614305	26917690	80431850	338	28853											
FAM179B	23116	broad.mit.edu	37	chr14	45542754	45542754	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcgatatgacaattttaaAtgaattatgaatcttcgata	16	15	5	5	2	1	3	0	3	1	0	3	5	1	3	0	0	0	0	0	0	8	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:45542754A>G	ENST00000361462.2	+	20	5495	c.5312A>G	c.(5311-5313)aAt>aGt	p.N1771S	FAM179B_ENST00000361577.3_Missense_Mutation_p.N1718S|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1718							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACAATTTTAAATGAATTATGA	0.338													10	13					0	0	0	0	G	45542754	A	G	45542754	3	3	159	1	0	0	0	0	1	0	0	0	5547	101	4	5	5227	5	FAM179B	14	45542754	Missense_Mutation	SNP	A	TCGA-CQ-7071-01A-12D-A30E-08	18625064	45542754	61806786	339	28854											
DACT1	51339	broad.mit.edu	37	chr14	59112454	59112454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccccacgaaagggcttctGaggaacgggagcgtttgtgt	9	8	15	9	3	1	1	0	1	1	0	1	5	1	3	2	3	2	2	2	3	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:59112454G>A	ENST00000395153.3	+	4	1149	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	DACT1_ENST00000556859.1_Silent_p.L90L|DACT1_ENST00000395151.3_Silent_p.L90L|DACT1_ENST00000335867.4_Silent_p.L371L|DACT1_ENST00000541264.2_Silent_p.L90L	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	371					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AAGGGCTTCTGAGGAACGGGA	0.552													23	61					0	0	0	0	A	59112454	G	A	59112454	2	1	159	1	0	0	0	0	0	0	0	1	4255	1277	45	2		2	DACT1	14	59112454	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	13569700	59112454	48237086	340	28855											
RTN1	6252	broad.mit.edu	37	chr14	60194227	60194227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggctggggatggttggcGgtccggacctggccttgacc	3	8	20	10	2	0	1	0	1	0	0	1	3	1	3	4	9	0	2	4	9	0	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:60194227G>A	ENST00000267484.5	-	3	1510	c.1175C>T	c.(1174-1176)cCg>cTg	p.P392L		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	392					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.P392L(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GATGGTTGGCGGTCCGGACCT	0.672													3	8					0	0	0	0	A	60194227	G	A	60194227	3	1	159	1	0	0	0	0	1	0	0	0	13810	1116	39	1	1248	1	RTN1	14	60194227	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1081773	60194227	47155313	341	28856											
SIX4	51804	broad.mit.edu	37	chr14	61190283	61190283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgactcgaagctgtggctCtcgaggatgctgtagagctc	7	9	14	11	3	1	1	0	0	1	1	4	5	1	2	1	2	3	5	1	2	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:61190283C>G	ENST00000216513.4	-	1	569	c.510G>C	c.(508-510)gaG>gaC	p.E170D		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	170						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AGCTGTGGCTCTCGAGGATGC	0.692													14	13					0	0	0	0	G	61190283	C	G	61190283	3	3	159	1	0	0	0	0	1	0	0	0	14437	912	32	2	1847	2	SIX4	14	61190283	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	996056	61190283	46159257	342	28857											
HSPA2	3306	broad.mit.edu	37	chr14	65007846	65007846	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatatgaaacactggccgttCcgggtggtgagcgagggagg	9	7	18	7	3	0	2	0	2	0	0	1	5	1	3	2	5	2	1	2	5	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:65007846C>T	ENST00000247207.6	+	1	661	c.279C>T	c.(277-279)ttC>ttT	p.F93F	HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000394709.1_Silent_p.F93F	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	93					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACTGGCCGTTCCGGGTGGTGA	0.557													18	56					0	0	0	0	T	65007846	C	T	65007846	2	4	159	1	0	0	0	0	0	0	0	1	7463	854	30	2		2	HSPA2	14	65007846	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	3817563	65007846	42341694	343	28858											
GPHN	10243	broad.mit.edu	37	chr14	67576890	67576890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatgccaggacaagtcatgCgggttacaacaggtgctcca	12	8	11	10	1	1	0	1	0	0	0	2	1	2	1	2	3	5	2	2	3	4	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:67576890C>T	ENST00000478722.1	+	14	2448	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	GPHN_ENST00000315266.5_Missense_Mutation_p.R410W|GPHN_ENST00000305960.9_Missense_Mutation_p.R379W|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.R456W	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	410	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ACAAGTCATGCGGGTTACAAC	0.453			T	MLL	AL								5	139					0	0	0	0	T	67576890	C	T	67576890	3	4	159	1	0	0	0	0	1	0	0	0	6659	759	27	1	1381	1	GPHN	14	67576890	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2569044	67576890	39772650	344	28859											
ZFYVE26	23503	broad.mit.edu	37	chr14	68265222	68265222	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctctgggtgaagatcagcaGaggtgatgagaagcaatgag	13	7	16	5	0	2	6	1	4	1	3	2	7	2	6	0	2	2	3	0	2	3	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:68265222G>C	ENST00000347230.4	-	11	1895	c.1757C>G	c.(1756-1758)tCt>tGt	p.S586C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S586C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	586				S -> P (in Ref. 3; CAH18131).	cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AAGATCAGCAGAGGTGATGAG	0.512													27	39					0	0	0	0	C	68265222	G	C	68265222	3	2	159	1	0	0	0	0	1	0	0	0	17763	942	33	2	5990	2	ZFYVE26	14	68265222	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	688332	68265222	39084318	345	28860											
FLVCR2	55640	broad.mit.edu	37	chr14	76091050	76091050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catacttaggttccatcgccCggctcttcaaaaatctcaac	11	11	5	14	2	3	0	2	0	2	0	6	0	4	0	2	2	2	2	2	2	5	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:76091050C>T	ENST00000238667.4	+	3	1263	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	FLVCR2_ENST00000553587.1_Missense_Mutation_p.R51W|FLVCR2_ENST00000556856.1_Missense_Mutation_p.R51W|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000539311.1_Missense_Mutation_p.R98W	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	303					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTCCATCGCCCGGCTCTTCAA	0.478													4	91					0	0	0	0	T	76091050	C	T	76091050	3	4	159	1	0	0	0	0	1	0	0	0	5991	643	23	1	917	1	FLVCR2	14	76091050	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	7825828	76091050	31258490	346	28861											
TTC8	123016	broad.mit.edu	37	chr14	89327638	89327638	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttagataagtttccaggaGaagtaaccctgctctgtgga	11	11	11	8	0	1	2	0	0	1	2	2	4	2	3	2	2	2	4	2	2	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:89327638G>C	ENST00000338104.6	+	10	971	c.919G>C	c.(919-921)Gaa>Caa	p.E307Q	TTC8_ENST00000346301.4_Missense_Mutation_p.E251Q|TTC8_ENST00000536576.1_Missense_Mutation_p.E52Q|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000358622.5_Missense_Mutation_p.E93Q|TTC8_ENST00000345383.5_Missense_Mutation_p.E281Q|TTC8_ENST00000380656.2_Missense_Mutation_p.E291Q			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	317					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GTTTCCAGGAGAAGTAACCCT	0.299													22	35					0	0	0	0	C	89327638	G	C	89327638	3	2	159	1	0	0	0	0	1	0	0	0	16810	943	33	2	909	2	TTC8	14	89327638	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	13236588	89327638	18021902	347	28862											
BTBD7	55727	broad.mit.edu	37	chr14	93712233	93712233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtggtggtggcggcagCagcagccaccgtctgtctgc	5	8	17	11	2	2	1	0	1	2	0	2	1	2	1	2	5	4	3	2	5	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:93712233C>T	ENST00000334746.5	-	10	2828	c.2521G>A	c.(2521-2523)Gct>Act	p.A841T	BTBD7_ENST00000393170.2_Missense_Mutation_p.A415T|BTBD7_ENST00000554565.1_Missense_Mutation_p.A490T	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	841										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GTGGCGGCAGCAGCAGCCACC	0.557													13	39					0	0	0	0	T	93712233	C	T	93712233	3	4	159	1	0	0	0	0	1	0	0	0	1555	710	25	4	885	4	BTBD7	14	93712233	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	4384595	93712233	13637307	348	28863											
CLMN	79789	broad.mit.edu	37	chr14	95670176	95670176	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accattacaggaagaagactGagaattattgtttgtgccct	13	12	9	7	0	0	3	0	1	0	3	0	5	0	4	2	1	2	1	2	1	5	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:95670176G>A	ENST00000298912.4	-	9	1623	c.1510C>T	c.(1510-1512)Cag>Tag	p.Q504*		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	504						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GAAGAAGACTGAGAATTATTG	0.463													15	38					0	0	0	0	A	95670176	G	A	95670176	4	1	159	1	0	0	0	0	0	1	0	0	3572	1299	45	2	1518	2	CLMN	14	95670176	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1957943	95670176	11679364	349	28864											
WARS	7453	broad.mit.edu	37	chr14	100820140	100820140	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggtccagggtcaggtccttCcacagatacttctcgtcatc	7	12	9	13	1	3	1	2	0	1	1	8	1	6	1	3	3	1	0	3	3	1	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:100820140C>G	ENST00000355338.2	-	6	1227	c.609G>C	c.(607-609)tgG>tgC	p.W203C	WARS_ENST00000344102.5_Missense_Mutation_p.W162C|WARS_ENST00000392882.2_Missense_Mutation_p.W203C|WARS_ENST00000358655.4_Missense_Mutation_p.W162C|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000557135.1_Missense_Mutation_p.W203C|WARS_ENST00000556645.1_Missense_Mutation_p.W162C|WARS_ENST00000554084.1_5'UTR	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	203					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCAGGTCCTTCCACAGATACT	0.498													15	71					0	0	0	0	G	100820140	C	G	100820140	3	3	159	1	0	0	0	0	1	0	0	0	17345	856	30	2	830	2	WARS	14	100820140	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5149964	100820140	6529400	350	28865											
ZNF839	55778	broad.mit.edu	37	chr14	102792787	102792787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaaagacacgttctggaCgggtatctcgacctcccaaa	13	8	9	11	3	2	1	0	0	2	1	4	3	3	2	2	2	0	3	2	2	5	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:102792787C>T	ENST00000262236.5	+	2	761	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	ZNF839_ENST00000559185.1_Missense_Mutation_p.R136W|ZNF839_ENST00000558850.1_Missense_Mutation_p.R136W|ZNF839_ENST00000442396.2_Missense_Mutation_p.R252W	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	136						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ACGTTCTGGACGGGTATCTCG	0.368													12	34					0	0	0	0	T	102792787	C	T	102792787	3	4	159	1	0	0	0	0	1	0	0	0	18281	527	19	1	760	1	ZNF839	14	102792787	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1972647	102792787	4556753	351	28866											
CDC42BPB	9578	broad.mit.edu	37	chr14	103436591	103436591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagcatcatcaagctgaGcttccagctacaaaaggaag	16	6	8	11	0	2	1	2	1	0	0	3	2	3	2	1	1	6	4	1	1	6	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:103436591G>C	ENST00000361246.2	-	14	2180	c.1892C>G	c.(1891-1893)gCt>gGt	p.A631G		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	631					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ATCAAGCTGAGCTTCCAGCTA	0.527													5	14					0	0	0	0	C	103436591	G	C	103436591	3	2	159	1	0	0	0	0	1	0	0	0	3102	971	34	4	3339	4	CDC42BPB	14	103436591	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	643804	103436591	3912949	352	28867											
ZNF770	54989	broad.mit.edu	37	chr15	35274087	35274087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttcatgtctttttaagtGagctgactgtctaaaagatt	10	17	8	6	0	3	3	1	2	2	1	3	3	3	3	0	0	1	2	0	0	3	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:35274087G>A	ENST00000356321.4	-	3	1893	c.1549C>T	c.(1549-1551)Cac>Tac	p.H517Y		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CTTTTTAAGTGAGCTGACTGT	0.343													23	58					0	0	0	0	A	35274087	G	A	35274087	3	1	159	1	0	0	0	0	1	0	0	0	18237	1290	45	2	530	2	ZNF770	15	35274087	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08		35274087	67257305	353	28868											
GPR176	11245	broad.mit.edu	37	chr15	40093484	40093484	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctgtttcgggtctctGagagccactgaggaggcaac	7	11	13	10	1	2	2	0	2	2	1	4	4	2	3	1	3	3	3	1	3	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:40093484G>T	ENST00000299092.3	-	4	1592	c.1394C>A	c.(1393-1395)tCa>tAa	p.S465*	GPR176_ENST00000543580.1_Nonsense_Mutation_p.S421*|GPR176_ENST00000561100.1_Nonsense_Mutation_p.S466*|RP11-37C7.1_ENST00000558616.1_RNA	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	466					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TCGGGTCTCTGAGAGCCACTG	0.582													32	89					4.74835e-14	5.06053e-14	1	0	T	40093484	G	T	40093484	4	4	159	1	0	0	0	0	0	1	0	0	6722	1294	45	2	154	2	GPR176	15	40093484	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	4819397	40093484	62437908	354	28869											
CASC5	57082	broad.mit.edu	37	chr15	40915073	40915073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcagaagacgataagaatGatatggatatcactaagagt	17	11	9	4	1	2	5	2	1	0	4	2	7	2	6	0	1	0	0	0	1	6	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:40915073G>A	ENST00000346991.5	+	11	3079	c.2689G>A	c.(2689-2691)Gat>Aat	p.D897N	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.D871N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	897	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CGATAAGAATGATATGGATAT	0.333													27	66					0	0	0	0	A	40915073	G	A	40915073	3	1	159	1	0	0	0	0	1	0	0	0	2688	1290	45	2	2727	2	CASC5	15	40915073	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	821589	40915073	61616319	355	28870											
RTF1	23168	broad.mit.edu	37	chr15	41762529	41762529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagaggaggaagaggatGacaaatccagtgaaaagtca	19	5	13	4	0	1	5	1	3	0	2	2	8	2	8	1	3	0	0	1	3	5	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:41762529G>A	ENST00000389629.4	+	7	976	c.964G>A	c.(964-966)Gac>Aac	p.D322N		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	322	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GGAAGAGGATGACAAATCCAG	0.433													108	283					0	0	0	0	A	41762529	G	A	41762529	3	1	159	1	0	0	0	0	1	0	0	0	13806	1290	45	2	990	2	RTF1	15	41762529	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	847456	41762529	60768863	356	28871											
UBR1	197131	broad.mit.edu	37	chr15	43363031	43363031	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagttctttttcctcttcCcatatagtcatttctacgac	7	17	5	12	1	4	0	1	0	3	0	6	1	6	0	2	1	1	2	2	1	3	8			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:43363031C>T	ENST00000290650.4	-	5	699	c.621G>A	c.(619-621)tgG>tgA	p.W207*	UBR1_ENST00000382177.2_Nonsense_Mutation_p.W207*	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	207					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTTCCTCTTCCCATATAGTCA	0.373													24	90					0	0	0	0	T	43363031	C	T	43363031	4	4	159	1	0	0	0	0	0	1	0	0	16997	624	22	4	4800	4	UBR1	15	43363031	Nonsense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1600502	43363031	59168361	357	28872											
SLC12A1	6557	broad.mit.edu	37	chr15	48566825	48566825	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatcagccaaggatttgaCatctctcaggttcttcaggt	11	12	9	9	0	5	2	3	1	2	1	6	3	5	3	1	3	1	1	1	3	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:48566825C>G	ENST00000396577.3	+	20	2675	c.2460C>G	c.(2458-2460)gaC>gaG	p.D820E	SLC12A1_ENST00000380993.3_Missense_Mutation_p.D820E|SLC12A1_ENST00000558405.1_Missense_Mutation_p.D820E	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	820					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAGGATTTGACATCTCTCAGG	0.393													13	19					0	0	0	0	G	48566825	C	G	48566825	3	3	159	1	0	0	0	0	1	0	0	0	14470	477	17	4	2634	4	SLC12A1	15	48566825	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5203794	48566825	53964567	358	28873											
WDR72	256764	broad.mit.edu	37	chr15	53992089	53992089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctttccctcaaggtgaagGagagccacggaatggtcacc	10	8	11	12	1	3	2	2	1	1	1	4	4	4	3	3	4	1	0	3	4	3	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:53992089G>A	ENST00000396328.1	-	13	1862	c.1623C>T	c.(1621-1623)ctC>ctT	p.L541L	WDR72_ENST00000360509.5_Silent_p.L541L|WDR72_ENST00000557913.1_Silent_p.L538L|WDR72_ENST00000559418.1_Silent_p.L551L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	541										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAAGGTGAAGGAGAGCCACGG	0.443													35	118					0	0	0	0	A	53992089	G	A	53992089	2	1	159	1	0	0	0	0	0	0	0	1	17418	1161	41	2		2	WDR72	15	53992089	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	5425264	53992089	48539303	359	28874											
TLN2	83660	broad.mit.edu	37	chr15	62986551	62986551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatttggactagaaggtgatGaggagtcaaccatgttagaa	14	10	13	4	0	1	4	1	2	0	2	1	7	1	6	1	3	1	1	1	3	5	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:62986551G>A	ENST00000561311.1	+	13	1482	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	TLN2_ENST00000306829.6_Missense_Mutation_p.E418K			Q9Y4G6	TLN2_HUMAN	talin 2	418					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAAGGTGATGAGGAGTCAAC	0.433													12	29					0	0	0	0	A	62986551	G	A	62986551	3	1	159	1	0	0	0	0	1	0	0	0	16042	1291	45	2	1294	2	TLN2	15	62986551	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	8994462	62986551	39544841	360	28875											
USP3	9960	broad.mit.edu	37	chr15	63883006	63883006	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtggaacaccaggccaaagCtggatcggataaactttaat	14	8	10	9	2	0	0	0	0	0	0	1	3	0	3	2	4	3	1	2	4	5	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:63883006C>G	ENST00000268049.7	+	16	1802	c.1478C>G	c.(1477-1479)gCt>gGt	p.A493G	USP3_ENST00000558285.1_Missense_Mutation_p.A498G|USP3_ENST00000540797.1_Missense_Mutation_p.A471G|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3_ENST00000559711.1_Missense_Mutation_p.A426G|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000539772.1_Missense_Mutation_p.A266G|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3_ENST00000380324.3_Missense_Mutation_p.A515G|USP3-AS1_ENST00000559861.1_RNA			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	515					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CAGGCCAAAGCTGGATCGGAT	0.423													36	100					0	0	0	0	G	63883006	C	G	63883006	3	3	159	1	0	0	0	0	1	0	0	0	17156	797	28	4	1602	4	USP3	15	63883006	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	896455	63883006	38648386	361	28876											
FEM1B	10116	broad.mit.edu	37	chr15	68583057	68583057	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtatttagtgtgcatctCtaccaaaacacagtgcagcg	11	12	8	10	1	2	0	0	0	2	0	3	0	2	0	1	0	5	3	1	0	5	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:68583057C>G	ENST00000306917.4	+	2	1976	c.1361C>G	c.(1360-1362)tCt>tGt	p.S454C		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	454					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GTGTGCATCTCTACCAAAACA	0.383													26	84					0	0	0	0	G	68583057	C	G	68583057	3	3	159	1	0	0	0	0	1	0	0	0	5855	913	32	2	1367	2	FEM1B	15	68583057	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	4700051	68583057	33948335	362	28877											
MEX3B	84206	broad.mit.edu	37	chr15	82337813	82337813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccgccccacgatctcggcGacatgctcagaactgggtac	8	7	11	15	4	2	1	1	0	1	1	3	3	2	1	3	2	4	2	3	2	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:82337813G>A	ENST00000558133.1	-	1	647	c.234C>T	c.(232-234)gtC>gtT	p.V78V	MEX3B_ENST00000329713.4_Silent_p.V78V			Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	78	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CGATCTCGGCGACATGCTCAG	0.647													6	24					0	0	0	0	A	82337813	G	A	82337813	2	1	159	1	0	0	0	0	0	0	0	1	9579	1045	37	1		1	MEX3B	15	82337813	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	13754756	82337813	20193579	363	28878											
FANCI	55215	broad.mit.edu	37	chr15	89843066	89843066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacacttcaattcctacttCagtggaagagtcgggaaaga	14	10	9	8	1	2	2	2	0	0	2	4	4	3	4	1	2	2	0	1	2	5	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:89843066C>T	ENST00000310775.7	+	25	2758	c.2672C>T	c.(2671-2673)tCa>tTa	p.S891L	FANCI_ENST00000300027.8_Missense_Mutation_p.S831L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	891					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATTCCTACTTCAGTGGAAGAG	0.403								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				24	60					0	0	0	0	T	89843066	C	T	89843066	3	4	159	1	0	0	0	0	1	0	0	0	5714	838	29	2	2766	2	FANCI	15	89843066	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	7505253	89843066	12688326	364	28879											
CHD2	1106	broad.mit.edu	37	chr15	93540504	93540504	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactgcttaacctgtcgtgtCaaagctgcacattttgatgt	9	15	8	9	1	1	1	1	1	0	0	2	1	1	1	1	0	5	3	1	0	3	4	rs141696596	by1000genomes	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:93540504C>G	ENST00000394196.4	+	30	4824	c.3756C>G	c.(3754-3756)gtC>gtG	p.V1252V	CHD2_ENST00000557381.1_Silent_p.V1252V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1252					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTGTCGTGTCAAAGCTGCAC	0.388													15	58					0	0	0	0	G	93540504	C	G	93540504	2	3	159	1	0	0	0	0	0	0	0	1	3354	813	29	2		2	CHD2	15	93540504	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	3697438	93540504	8990888	365	28880											
PTX4	390667	broad.mit.edu	37	chr16	1536008	1536008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctgctagtgcagcattggCcagcgtcaggatggcacctg	7	8	14	12	1	1	0	1	0	0	0	1	1	1	1	3	3	4	4	3	3	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:1536008C>T	ENST00000447419.2	-	3	1394	c.1369G>A	c.(1369-1371)Gcc>Acc	p.A457T	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Missense_Mutation_p.A452T			Q96A99	PTX4_HUMAN	pentraxin 4, long	457	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCAGCATTGGCCAGCGTCAGG	0.637													12	37					0	0	0	0	T	1536008	C	T	1536008	3	4	159	1	0	0	0	0	1	0	0	0	12905	739	26	4	70	4	PTX4	16	1536008	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08		1536008	88818745	366	28881											
PKD1	5310	broad.mit.edu	37	chr16	2164194	2164194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggactccctgcagtacacGggcctcggggctgggcgtgg	5	7	17	12	3	0	0	0	0	0	0	2	1	1	1	2	6	2	3	2	6	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:2164194G>A	ENST00000262304.4	-	11	3038	c.2830C>T	c.(2830-2832)Cgt>Tgt	p.R944C	PKD1_ENST00000423118.1_Missense_Mutation_p.R944C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	944	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGCAGTACACGGGCCTCGGGG	0.701													14	59					0	0	0	0	A	2164194	G	A	2164194	3	1	159	1	0	0	0	0	1	0	0	0	12035	1116	39	1	10225	1	PKD1	16	2164194	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	628186	2164194	88190559	367	28882											
ABCA3	21	broad.mit.edu	37	chr16	2336736	2336736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcagggcgctccggggCtgggggaagttggagaccac	6	5	19	11	2	0	1	0	0	0	1	1	3	1	2	3	6	1	4	3	6	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:2336736C>A	ENST00000301732.5	-	22	3937	c.3237G>T	c.(3235-3237)caG>caT	p.Q1079H	ABCA3_ENST00000382381.3_Missense_Mutation_p.Q1021H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1079					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGCTCCGGGGCTGGGGGAAGT	0.647													45	113					1.06522e-23	1.1655e-23	1	0	A	2336736	C	A	2336736	3	1	159	1	0	0	0	0	1	0	0	0	33	796	28	4	1925	4	ABCA3	16	2336736	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	172542	2336736	88018017	368	28883											
CREBBP	1387	broad.mit.edu	37	chr16	3790493	3790493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagggtgattctggcgcCgcaaaaatttgttcactcgg	8	12	11	10	3	3	1	2	1	1	0	4	1	3	1	1	3	0	2	1	3	2	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:3790493C>T	ENST00000262367.5	-	24	4849	c.4040G>A	c.(4039-4041)cGg>cAg	p.R1347Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1309Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1347	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATTCTGGCGCCGCAAAAATTT	0.567			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						20	56					0	0	0	0	T	3790493	C	T	3790493	3	4	159	1	0	0	0	0	1	0	0	0	3891	652	23	1	3320	1	CREBBP	16	3790493	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1453757	3790493	86564260	369	28884											
GRIN2A	2903	broad.mit.edu	37	chr16	9934940	9934940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcagcatttcttcacattCatcccctcattggttgaatt	8	17	5	11	0	4	1	3	1	1	0	5	1	5	1	2	1	2	3	2	1	1	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:9934940C>T	ENST00000396573.2	-	7	1659	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	GRIN2A_ENST00000330684.3_Missense_Mutation_p.M450I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M450I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M293I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M450I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M450I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	450					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTTCACATTCATCCCCTCAT	0.418													22	57					0	0	0	0	T	9934940	C	T	9934940	3	4	159	1	0	0	0	0	1	0	0	0	6829	826	29	2	3076	2	GRIN2A	16	9934940	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	6144447	9934940	80419813	370	28885											
MKL2	57496	broad.mit.edu	37	chr16	14307474	14307474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcaggatgcacattttaGaaggtaaaggatttatttct	12	16	9	4	0	2	1	1	0	1	1	2	3	2	3	0	3	1	2	0	3	5	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:14307474G>A	ENST00000571589.1	+	6	521	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	MKL2_ENST00000574045.1_Missense_Mutation_p.E117K|MKL2_ENST00000573051.1_Missense_Mutation_p.E66K|MKL2_ENST00000318282.5_Missense_Mutation_p.E117K|MKL2_ENST00000341243.5_Missense_Mutation_p.E106K|MKL2_ENST00000572567.1_Missense_Mutation_p.E106K	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	106					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCACATTTTAGAAGGTAAAGG	0.303													7	41					0	0	0	0	A	14307474	G	A	14307474	3	1	159	1	0	0	0	0	1	0	0	0	9671	943	33	2	363	2	MKL2	16	14307474	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	4372534	14307474	76047279	371	28886											
MKL2	57496	broad.mit.edu	37	chr16	14334318	14334318	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcagcactacaactaccaGaccatcctgcctgcaccatt	13	7	5	16	0	0	1	0	0	0	1	1	1	1	1	5	0	7	3	5	0	4	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:14334318G>C	ENST00000571589.1	+	10	1228	c.1056G>C	c.(1054-1056)caG>caC	p.Q352H	MKL2_ENST00000574045.1_Missense_Mutation_p.Q352H|MKL2_ENST00000573051.1_Missense_Mutation_p.Q301H|MKL2_ENST00000318282.5_Missense_Mutation_p.Q352H|MKL2_ENST00000341243.5_Missense_Mutation_p.Q341H|MKL2_ENST00000572567.1_Missense_Mutation_p.Q341H	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	341					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACAACTACCAGACCATCCTGC	0.527													21	102					0	0	0	0	C	14334318	G	C	14334318	3	2	159	1	0	0	0	0	1	0	0	0	9671	933	33	2	1086	2	MKL2	16	14334318	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	26844	14334318	76020435	372	28887											
SYT17	51760	broad.mit.edu	37	chr16	19278268	19278268	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcattggccagtactcttCaggcccctctgagaccaacc	8	9	8	16	1	4	1	2	1	2	1	4	2	4	1	5	2	2	1	5	2	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:19278268C>A	ENST00000562034.1	+	6	4910	c.1112C>A	c.(1111-1113)tCa>tAa	p.S371*	SYT17_ENST00000562711.2_Nonsense_Mutation_p.S428*|SYT17_ENST00000355377.2_Nonsense_Mutation_p.S432*|SYT17_ENST00000568433.1_Nonsense_Mutation_p.S126*			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	432	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CAGTACTCTTCAGGCCCCTCT	0.602													16	36					1.15088e-07	1.18751e-07	1	0	A	19278268	C	A	19278268	4	1	159	1	0	0	0	0	0	1	0	0	15564	838	29	2	1325	2	SYT17	16	19278268	Nonsense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	4943950	19278268	71076485	373	28888											
OTOA	146183	broad.mit.edu	37	chr16	21742218	21742218	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaccctttctagtacttttCtcaggagatgaattaagctc	10	14	8	9	0	2	2	1	1	2	1	4	4	2	3	1	2	2	2	1	2	4	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:21742218C>T	ENST00000388958.3	+	20	2269	c.2268C>T	c.(2266-2268)ttC>ttT	p.F756F	OTOA_ENST00000388957.3_Silent_p.F432F|OTOA_ENST00000286149.4_Silent_p.F770F|OTOA_ENST00000388956.4_Silent_p.F677F	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	770					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TAGTACTTTTCTCAGGAGATG	0.428													8	8					0	0	0	0	T	21742218	C	T	21742218	2	4	159	1	0	0	0	0	0	0	0	1	11373	912	32	2		2	OTOA	16	21742218	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2463950	21742218	68612535	374	28889											
SCNN1B	6338	broad.mit.edu	37	chr16	23383141	23383141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctacagcccgtgcaccgtGaatggttctgaggtccccgt	6	9	11	15	3	1	2	0	2	1	0	2	2	2	2	5	2	3	2	5	2	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:23383141G>A	ENST00000343070.2	+	7	1265	c.1089G>A	c.(1087-1089)gtG>gtA	p.V363V	SCNN1B_ENST00000568085.1_Intron|SCNN1B_ENST00000307331.5_Silent_p.V408V|SCNN1B_ENST00000568923.1_Silent_p.V336V	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	363					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CGTGCACCGTGAATGGTTCTG	0.602													33	133					0	0	0	0	A	23383141	G	A	23383141	2	1	159	1	0	0	0	0	0	0	0	1	14015	1277	45	2		2	SCNN1B	16	23383141	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1640923	23383141	66971612	375	28890											
SCNN1B	6338	broad.mit.edu	37	chr16	23390051	23390051	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggattttccacgtcttgtctCaggagcgggaccaaagcacc	9	9	11	12	2	2	0	1	0	2	0	4	3	3	3	3	3	2	1	3	3	1	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:23390051C>G	ENST00000343070.2	+	11	1605	c.1429C>G	c.(1429-1431)Cag>Gag	p.Q477E	SCNN1B_ENST00000568085.1_Missense_Mutation_p.Q441E|SCNN1B_ENST00000307331.5_Missense_Mutation_p.Q522E|SCNN1B_ENST00000568923.1_Missense_Mutation_p.Q450E	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	477					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CGTCTTGTCTCAGGAGCGGGA	0.592													11	57					0	0	0	0	G	23390051	C	G	23390051	3	3	159	1	0	0	0	0	1	0	0	0	14015	827	29	2	1467	2	SCNN1B	16	23390051	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	6910	23390051	66964702	376	28891											
COG7	91949	broad.mit.edu	37	chr16	23417451	23417451	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattcagcagggttatctttCtggaggtaattatattcttg	9	18	9	5	0	4	0	1	0	3	0	4	1	4	1	0	3	1	3	0	3	5	9			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:23417451C>G	ENST00000307149.5	-	12	1793	c.1608G>C	c.(1606-1608)caG>caC	p.Q536H		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	536					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GGTTATCTTTCTGGAGGTAAT	0.433													57	130					0	0	0	0	G	23417451	C	G	23417451	3	3	159	1	0	0	0	0	1	0	0	0	3693	912	32	2	728	2	COG7	16	23417451	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	27400	23417451	66937302	377	28892											
NKD1	85407	broad.mit.edu	37	chr16	50664171	50664171	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactccccaacatccagcaaGatgctgcgggtaaagctcac	12	6	8	15	1	1	1	1	0	0	1	3	1	3	1	3	1	5	4	3	1	4	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:50664171G>C	ENST00000268459.3	+	7	761	c.537G>C	c.(535-537)aaG>aaC	p.K179N		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	179	Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CATCCAGCAAGATGCTGCGGG	0.602													32	75					0	0	0	0	C	50664171	G	C	50664171	3	2	159	1	0	0	0	0	1	0	0	0	10511	933	33	2	563	2	NKD1	16	50664171	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	27246720	50664171	39690582	378	28893											
PRSS54	221191	broad.mit.edu	37	chr16	58324919	58324919	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactcgctcaggatgcagccGaaagccaggtgtgtgtactg	10	8	13	10	2	1	0	1	0	0	0	2	2	1	1	2	2	5	3	2	2	3	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:58324919G>A	ENST00000219301.4	-	4	601	c.207C>T	c.(205-207)ttC>ttT	p.F69F	PRSS54_ENST00000567164.1_Silent_p.F69F|PRSS54_ENST00000543437.1_Intron	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGATGCAGCCGAAAGCCAGGT	0.627													23	60					0	0	0	0	A	58324919	G	A	58324919	2	1	159	1	0	0	0	0	0	0	0	1	12712	1049	37	1		1	PRSS54	16	58324919	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	7660748	58324919	32029834	379	28894											
CNOT1	23019	broad.mit.edu	37	chr16	58581184	58581184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataagcctctagcagcaatGatttcacatccaagtcctag	13	10	6	12	0	2	1	1	1	1	0	4	1	4	1	3	0	3	2	3	0	5	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:58581184G>A	ENST00000317147.5	-	27	3988	c.3656C>T	c.(3655-3657)tCa>tTa	p.S1219L	CNOT1_ENST00000245138.4_Missense_Mutation_p.S70L|CNOT1_ENST00000569240.1_Missense_Mutation_p.S1214L|CNOT1_ENST00000441024.2_Missense_Mutation_p.S1219L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1219					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGCAGCAATGATTTCACATC	0.378													24	75					0	0	0	0	A	58581184	G	A	58581184	3	1	159	1	0	0	0	0	1	0	0	0	3647	1294	45	2	3788	2	CNOT1	16	58581184	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	256265	58581184	31773569	380	28895											
EDC4	23644	broad.mit.edu	37	chr16	67912285	67912285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgcacgagtggaaacctCatgatgggcggcccctctcc	7	8	12	14	2	3	1	1	1	2	0	4	3	3	2	4	3	2	1	4	3	1	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:67912285C>G	ENST00000358933.5	+	9	1266	c.1027C>G	c.(1027-1029)Cat>Gat	p.H343D	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	343					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GTGGAAACCTCATGATGGGCG	0.617													34	118					0	0	0	0	G	67912285	C	G	67912285	3	3	159	1	0	0	0	0	1	0	0	0	4944	826	29	2	1061	2	EDC4	16	67912285	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	9331101	67912285	22442468	381	28896											
NQO1	1728	broad.mit.edu	37	chr16	69752046	69752046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaatatcacaaggtctgCggcttccagcttcttttgtt	7	15	9	10	1	3	0	1	0	2	0	4	1	4	1	1	3	2	3	1	3	3	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:69752046C>T	ENST00000320623.5	-	3	794	c.283G>A	c.(283-285)Gca>Aca	p.A95T	NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	95					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	ACAAGGTCTGCGGCTTCCAGC	0.488													5	312					0	0	0	0	T	69752046	C	T	69752046	3	4	159	1	0	0	0	0	1	0	0	0	10682	768	27	1	557	1	NQO1	16	69752046	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1839761	69752046	20602707	382	28897											
ACSF3	197322	broad.mit.edu	37	chr16	89167208	89167208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacagccccagtggcccgctCggacaggagcgccccggtgt	6	4	14	17	4	0	0	0	0	0	0	1	2	0	2	5	4	2	1	5	4	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:89167208C>T	ENST00000317447.4	+	3	496	c.119C>T	c.(118-120)tCg>tTg	p.S40L	ACSF3_ENST00000406948.3_Missense_Mutation_p.S40L|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	40					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GTGGCCCGCTCGGACAGGAGC	0.677													18	56					0	0	0	0	T	89167208	C	T	89167208	3	4	159	1	0	0	0	0	1	0	0	0	176	893	31	1	121	1	ACSF3	16	89167208	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	19415162	89167208	1187545	383	28898											
DBNDD1	79007	broad.mit.edu	37	chr16	90075219	90075219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggactcggtgttgaggttctCgtcgtccgagtcagcaaaga	8	10	14	9	4	2	2	1	1	1	1	6	4	3	3	1	3	1	3	1	3	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:90075219C>T	ENST00000392973.3	-	2	1041	c.310G>A	c.(310-312)Gag>Aag	p.E104K	DBNDD1_ENST00000304733.3_Missense_Mutation_p.E118K|DBNDD1_ENST00000002501.6_Missense_Mutation_p.E98K|DBNDD1_ENST00000568838.1_Missense_Mutation_p.E218K			Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	98						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		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;0.0275)		TTGAGGTTCTCGTCGTCCGAG	0.647													6	15					0	0	0	0	T	90075219	C	T	90075219	3	4	159	1	0	0	0	0	1	0	0	0	4286	893	31	1	192	1	DBNDD1	16	90075219	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	908011	90075219	279534	384	28899											
VPS53	55275	broad.mit.edu	37	chr17	465825	465825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtcagggcgatcatgggctCcccagtactgagctgagagc	8	7	15	11	1	2	2	2	2	0	1	3	4	3	2	2	3	3	3	2	3	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:465825C>T	ENST00000437048.2	-	14	1620	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	VPS53_ENST00000401468.3_Missense_Mutation_p.E215K|VPS53_ENST00000291074.5_Missense_Mutation_p.E463K|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000446250.2_Missense_Mutation_p.E294K|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.E492K	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	492					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		ATCATGGGCTCCCCAGTACTG	0.552													30	73					0	0	0	0	T	465825	C	T	465825	3	4	159	1	0	0	0	0	1	0	0	0	17311	864	30	2	1075	2	VPS53	17	465825	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08		465825	80729385	385	28900											
VPS53	55275	broad.mit.edu	37	chr17	613847	613847	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atctagagggtcctggcttgGaaacacctatatagaaagag	14	9	11	7	0	1	3	0	0	1	3	2	4	2	4	2	3	1	1	2	3	6	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:613847G>C	ENST00000437048.2	-	2	240	c.94C>G	c.(94-96)Cca>Gca	p.P32A	VPS53_ENST00000401468.3_Missense_Mutation_p.P32A|VPS53_ENST00000291074.5_Missense_Mutation_p.P32A|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Missense_Mutation_p.P32A|VPS53_ENST00000571805.1_Missense_Mutation_p.P32A	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	32					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TCCTGGCTTGGAAACACCTAT	0.378													25	50					0	0	0	0	C	613847	G	C	613847	3	2	159	1	0	0	0	0	1	0	0	0	17311	1174	41	2	2503	2	VPS53	17	613847	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	148022	613847	80581363	386	28901											
RILP	83547	broad.mit.edu	37	chr17	1549896	1549896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggattcagctttacccCgataccataggccaaagctg	12	8	9	12	1	1	1	1	0	0	1	1	3	1	2	4	2	4	2	4	2	4	5	rs75242198	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:1549896C>T	ENST00000301336.6	-	8	1318	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q		NM_031430.2	NP_113618.2	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	349					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCTTTACCCCGATACCATAG	0.577													35	81					0	0	0	0	T	1549896	C	T	1549896	3	4	159	1	0	0	0	0	1	0	0	0	13443	652	23	1	163	1	RILP	17	1549896	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	936049	1549896	79645314	387	28902											
ENO3	2027	broad.mit.edu	37	chr17	4859947	4859947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaggacacattcattgctGaccttgtggtggggctctgc	6	12	13	10	0	2	2	1	2	1	0	2	3	2	3	1	4	2	2	1	4	0	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:4859947G>A	ENST00000323997.6	+	10	1279	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	ENO3_ENST00000518175.1_Missense_Mutation_p.D383N|ENO3_ENST00000519584.1_Missense_Mutation_p.D340N	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	383					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						ATTCATTGCTGACCTTGTGGT	0.552											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	105					0	0	0	0	A	4859947	G	A	4859947	3	1	159	1	0	0	0	0	1	0	0	0	5161	1290	45	2	1181	2	ENO3	17	4859947	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3310051	4859947	76335263	388	28903											
WSCD1	23302	broad.mit.edu	37	chr17	6021411	6021411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtttgattcagccatcctGctaatccggaacccatacag	11	11	7	12	1	1	1	1	1	0	0	3	2	3	2	4	1	4	2	4	1	3	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:6021411G>A	ENST00000574946.1	+	8	1668	c.1278G>A	c.(1276-1278)ctG>ctA	p.L426L	WSCD1_ENST00000573634.1_Silent_p.L310L|WSCD1_ENST00000317744.5_Silent_p.L426L|WSCD1_ENST00000539421.1_Silent_p.L426L|WSCD1_ENST00000574232.1_Silent_p.L426L			Q658N2	WSCD1_HUMAN	WSC domain containing 1	426						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CAGCCATCCTGCTAATCCGGA	0.542													16	46					0	0	0	0	A	6021411	G	A	6021411	2	1	159	1	0	0	0	0	0	0	0	1	17502	1306	46	4		4	WSCD1	17	6021411	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1161464	6021411	75173799	389	28904											
KIAA0753	9851	broad.mit.edu	37	chr17	6515340	6515340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttgccacggctaacacctCgtctttgaagcttgcacttt	7	15	7	12	2	1	1	0	1	1	0	2	1	1	1	2	1	4	3	2	1	2	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:6515340C>T	ENST00000361413.3	-	8	1802	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	KIAA0753_ENST00000542606.1_Missense_Mutation_p.E183K|KIAA0753_ENST00000589033.1_Intron|KIAA0753_ENST00000572370.1_Missense_Mutation_p.E183K	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	482						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCTAACACCTCGTCTTTGAAG	0.463													63	180					0	0	0	0	T	6515340	C	T	6515340	3	4	159	1	0	0	0	0	1	0	0	0	8242	893	31	1	1507	1	KIAA0753	17	6515340	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	493929	6515340	74679870	390	28905											
BCL6B	255877	broad.mit.edu	37	chr17	6927875	6927875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccccccagtccagccaGccctgaccccaaggcctgca	8	3	9	21	0	0	1	0	1	0	0	1	1	1	1	9	2	3	1	9	2	1	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:6927875G>T	ENST00000293805.5	+	4	649	c.557G>T	c.(556-558)aGc>aTc	p.S186I	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	186	Pro-rich.					nucleus	zinc ion binding			skin(1)	1						AGTCCAGCCAGCCCTGACCCC	0.607													47	164					3.21987e-24	3.52925e-24	1	0	T	6927875	G	T	6927875	3	4	159	1	0	0	0	0	1	0	0	0	1381	971	34	4	567	4	BCL6B	17	6927875	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	412535	6927875	74267335	391	28906											
PHF23	79142	broad.mit.edu	37	chr17	7139465	7139465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctaccactgttgccatctCttcttcttcttcctcttcct	3	18	2	18	0	5	0	0	0	5	0	8	0	7	0	5	0	2	1	5	0	1	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:7139465C>G	ENST00000320316.3	-	4	1007	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	PHF23_ENST00000571362.1_Missense_Mutation_p.E194Q|PHF23_ENST00000454255.2_Missense_Mutation_p.E257Q|PHF23_ENST00000576955.1_Missense_Mutation_p.E131Q	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	261	Poly-Glu.						zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GTTGCCATCtcttcttcttct	0.622													33	102					0	0	0	0	G	7139465	C	G	7139465	3	3	159	1	0	0	0	0	1	0	0	0	11907	922	32	2	438	2	PHF23	17	7139465	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	211590	7139465	74055745	392	28907											
DNAH2	146754	broad.mit.edu	37	chr17	7736828	7736828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatcaagaggggcactgctCtactcatgagcctggacagc	10	7	13	11	0	3	2	2	1	1	1	3	4	3	4	1	4	4	2	1	4	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:7736828C>G	ENST00000572933.1	+	86	14721	c.13261C>G	c.(13261-13263)Cta>Gta	p.L4421V	DNAH2_ENST00000389173.2_Missense_Mutation_p.L4421V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4421					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGCACTGCTCTACTCATGAG	0.577													14	42					0	0	0	0	G	7736828	C	G	7736828	3	3	159	1	0	0	0	0	1	0	0	0	4639	912	32	2	13599	2	DNAH2	17	7736828	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	597363	7736828	73458382	393	28908											
CCDC42	146849	broad.mit.edu	37	chr17	8647848	8647848	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctcagacactcactggAgcatctgcagcagccgctcc	9	6	10	16	1	3	1	2	0	1	1	4	2	4	2	3	2	4	4	3	2	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:8647848A>G	ENST00000293845.3	-	1	306	c.80T>C	c.(79-81)cTc>cCc	p.L27P	CCDC42_ENST00000539522.2_Missense_Mutation_p.L27P	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	27										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CACTCACTGGAGCATCTGCAG	0.622													15	64					0	0	0	0	G	8647848	A	G	8647848	3	3	159	1	0	0	0	0	1	0	0	0	2840	304	11	5	898	5	CCDC42	17	8647848	Missense_Mutation	SNP	A	TCGA-CQ-7071-01A-12D-A30E-08	911020	8647848	72547362	394	28909											
MYH13	8735	broad.mit.edu	37	chr17	10223795	10223795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgcagtttcttctcctGctctaaggaaccctcaagct	7	11	7	16	2	4	0	1	0	3	0	5	1	4	1	3	1	3	4	3	1	3	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:10223795G>T	ENST00000418404.3	-	24	3293	c.3130C>A	c.(3130-3132)Cag>Aag	p.Q1044K	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Missense_Mutation_p.Q1044K|MYH13_ENST00000252172.4_Missense_Mutation_p.Q1044K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1044					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTCTTCTCCTGCTCTAAGGAA	0.493													7	17					0.00198382	0.00200005	1	0	T	10223795	G	T	10223795	3	4	159	1	0	0	0	0	1	0	0	0	10102	1328	46	4	2754	4	MYH13	17	10223795	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1575947	10223795	70971415	395	28910											
SCO1	6341	broad.mit.edu	37	chr17	10600743	10600743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcggctgggccccaaaactCgagtccgcgaggcaagaagc	10	4	13	14	4	0	1	0	0	0	1	3	3	1	1	3	3	2	2	3	3	4	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:10600743C>G	ENST00000255390.5	-	1	142	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	SCO1_ENST00000577427.1_Missense_Mutation_p.E28Q	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	28					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						CCCCAAAACTCGAGTCCGCGA	0.667													11	10					0	0	0	0	G	10600743	C	G	10600743	3	3	159	1	0	0	0	0	1	0	0	0	14018	893	31	3	847	3	SCO1	17	10600743	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	376948	10600743	70594467	396	28911											
PMP22	5376	broad.mit.edu	37	chr17	15134242	15134242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtctgggcgcctcattcgcGtttccgcaagatcacataga	8	10	10	13	5	3	2	2	0	1	2	5	2	4	2	2	1	0	2	2	1	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:15134242G>A	ENST00000395938.2	-	5	669	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	PMP22_ENST00000494511.1_Missense_Mutation_p.T99M|PMP22_ENST00000312280.3_Missense_Mutation_p.R159C|PMP22_ENST00000395936.1_3'UTR	NM_153321.1	NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	159					peripheral nervous system development|synaptic transmission	integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		CCTCATTCGCGTTTCCGCAAG	0.547													35	69					0	0	0	0	A	15134242	G	A	15134242	3	1	159	1	0	0	0	0	1	0	0	0	12211	1145	40	1	11	1	PMP22	17	15134242	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	4533499	15134242	66060968	397	28912											
KSR1	8844	broad.mit.edu	37	chr17	25935033	25935033	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatcgctcaggagatcatCaaggtgagggggtgcccagc	11	6	14	10	1	3	2	3	1	0	1	4	3	3	2	1	4	2	1	1	4	2	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:25935033C>T	ENST00000398988.3	+	17	2188	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	KSR1_ENST00000268763.6_Silent_p.I581I|KSR1_ENST00000319524.6_Silent_p.I718I|KSR1_ENST00000509603.2_Silent_p.I696I	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	716					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGGAGATCATCAAGGTGAGGG	0.597													6	9					0	0	0	0	T	25935033	C	T	25935033	2	4	159	1	0	0	0	0	0	0	0	1	8634	816	29	2		2	KSR1	17	25935033	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	10800791	25935033	55260177	398	28913											
SUPT6H	6830	broad.mit.edu	37	chr17	27003401	27003401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaaagcagccacctcacaGatcaggacaatgaaatccga	17	5	8	11	1	2	3	2	1	0	2	3	5	3	4	3	1	2	1	3	1	4	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:27003401G>A	ENST00000314616.6	+	7	1133	c.850G>A	c.(850-852)Gat>Aat	p.D284N	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D284N	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	284					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCACCTCACAGATCAGGACAA	0.507													31	95					0	0	0	0	A	27003401	G	A	27003401	3	1	159	1	0	0	0	0	1	0	0	0	15490	942	33	2	872	2	SUPT6H	17	27003401	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1068368	27003401	54191809	399	28914											
NF1	4763	broad.mit.edu	37	chr17	29684058	29684058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcaaatgttctcttggatGaagaagtacttactgatccg	13	13	8	7	1	2	3	1	2	1	1	4	4	3	4	1	1	2	2	1	1	6	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:29684058G>A	ENST00000358273.4	+	53	8202	c.7819G>A	c.(7819-7821)Gaa>Aaa	p.E2607K	NF1_ENST00000356175.3_Missense_Mutation_p.E2586K|NF1_ENST00000444181.2_Missense_Mutation_p.E400K|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2607					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTCTTGGATGAAGAAGTACT	0.418			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			60	118					0	0	0	0	A	29684058	G	A	29684058	3	1	159	1	0	0	0	0	1	0	0	0	10426	1291	45	2	8090	2	NF1	17	29684058	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	2680657	29684058	51511152	400	28915											
TMEM132E	124842	broad.mit.edu	37	chr17	32956042	32956042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctggcagggagggccaggGccccttggagatcttgcagc	6	6	16	13	0	1	1	0	0	1	1	1	3	1	2	4	5	2	2	4	5	0	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:32956042G>T	ENST00000321639.5	+	5	1215	c.887G>T	c.(886-888)gGc>gTc	p.G296V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	296						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GAGGGCCAGGGCCCCTTGGAG	0.612													32	107					6.53348e-20	7.0981e-20	1	0	T	32956042	G	T	32956042	3	4	159	1	0	0	0	0	1	0	0	0	16142	1203	42	4	905	4	TMEM132E	17	32956042	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3271984	32956042	48239168	401	28916											
SLFN12	55106	broad.mit.edu	37	chr17	33738832	33738832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcctagagaagatcagtGagccctttctgacagagtcc	11	9	10	11	0	2	5	1	2	1	3	4	6	4	5	3	0	2	1	3	0	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:33738832G>A	ENST00000394562.1	-	6	1785	c.1262C>T	c.(1261-1263)tCa>tTa	p.S421L	SLFN12_ENST00000452764.3_Missense_Mutation_p.S421L|SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000304905.5_Missense_Mutation_p.S421L			Q8IYM2	SLN12_HUMAN	schlafen family member 12	421							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAGATCAGTGAGCCCTTTCT	0.438													40	80					0	0	0	0	A	33738832	G	A	33738832	3	1	159	1	0	0	0	0	1	0	0	0	14822	1294	45	2	478	2	SLFN12	17	33738832	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	782790	33738832	47456378	402	28917											
HNF1B	6928	broad.mit.edu	37	chr17	36099454	36099454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaggatctctcgttgctttCtgacgtaccaggtgtacaga	8	12	12	9	2	2	2	0	1	2	1	4	4	2	4	1	3	3	4	1	3	2	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:36099454C>T	ENST00000225893.4	-	2	882	c.521G>A	c.(520-522)aGa>aAa	p.R174K	HNF1B_ENST00000561193.1_Missense_Mutation_p.R174K|HNF1B_ENST00000560016.1_Missense_Mutation_p.R174K|HNF1B_ENST00000427275.2_Missense_Mutation_p.R174K	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	174					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TCGTTGCTTTCTGACGTACCA	0.562													9	91					0	0	0	0	T	36099454	C	T	36099454	3	4	159	1	0	0	0	0	1	0	0	0	7302	913	32	2	1184	2	HNF1B	17	36099454	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2360622	36099454	45095756	403	28918											
SRCIN1	80725	broad.mit.edu	37	chr17	36704828	36704828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcgatcctcgtcatcctCgtccttgatggccgaggcca	6	10	11	14	4	1	1	1	1	0	0	6	4	4	1	5	2	1	0	5	2	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:36704828C>T	ENST00000264659.7	-	17	3459	c.3235G>A	c.(3235-3237)Gag>Aag	p.E1079K	SRCIN1_ENST00000578925.1_Missense_Mutation_p.E1113K|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	951					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCGTCATCCTCGTCCTTGATG	0.672													28	71					0	0	0	0	T	36704828	C	T	36704828	3	4	159	1	0	0	0	0	1	0	0	0	15226	893	31	1	328	1	SRCIN1	17	36704828	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	605374	36704828	44490382	404	28919											
CNP	1267	broad.mit.edu	37	chr17	40124023	40124023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgactacgggaaggctcccGgggcagaggagtacgctcaa	10	5	16	10	3	1	2	1	1	0	1	2	4	2	4	1	5	2	4	1	5	4	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:40124023G>A	ENST00000393892.2	+	3	934	c.790G>A	c.(790-792)Ggg>Agg	p.G264R	CNP_ENST00000591072.1_Missense_Mutation_p.G29R|CNP_ENST00000472031.1_Silent_p.P39P|CNP_ENST00000393888.1_Missense_Mutation_p.G244R	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	264					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GAAGGCTCCCGGGGCAGAGGA	0.567													3	47					0	0	0	0	A	40124023	G	A	40124023	3	1	159	1	0	0	0	0	1	0	0	0	3656	1116	39	1	800	1	CNP	17	40124023	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3419195	40124023	41071187	405	28920											
FZD2	2535	broad.mit.edu	37	chr17	42635642	42635642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccccgcgctacgccacgctgGagcaccccttccactgcccg	5	5	9	22	5	0	0	0	0	0	0	1	1	1	1	7	1	3	3	7	1	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:42635642G>C	ENST00000315323.3	+	1	718	c.586G>C	c.(586-588)Gag>Cag	p.E196Q		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	196					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGCCACGCTGGAGCACCCCTT	0.736													7	9					0	0	0	0	C	42635642	G	C	42635642	3	2	159	1	0	0	0	0	1	0	0	0	6178	1175	41	2	588	2	FZD2	17	42635642	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	2511619	42635642	38559568	406	28921											
FZD2	2535	broad.mit.edu	37	chr17	42636025	42636025	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggtggtgcagggcaccaaGaaggagggctgcaccatcct	10	5	15	11	1	0	1	0	0	0	1	1	2	1	2	3	5	2	4	3	5	2	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:42636025G>A	ENST00000315323.3	+	1	1101	c.969G>A	c.(967-969)aaG>aaA	p.K323K		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	323					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGGGCACCAAGAAGGAGGGCT	0.622													12	46					0	0	0	0	A	42636025	G	A	42636025	2	1	159	1	0	0	0	0	0	0	0	1	6178	933	33	2		2	FZD2	17	42636025	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	383	42636025	38559185	407	28922											
RSAD1	55316	broad.mit.edu	37	chr17	48562221	48562221	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccctgtgccaggaggatGacaaaaatgttcctgtgttc	9	11	10	11	0	0	1	0	1	0	0	3	3	2	3	4	2	1	2	4	2	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:48562221G>A	ENST00000258955.2	+	9	1413	c.1328G>A	c.(1327-1329)tGa>tAa	p.*443*		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	0					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCAGGAGGATGACAAAAATGT	0.582													10	16					0	0	0	0	A	48562221	G	A	48562221	2	1	159	1	0	0	0	0	0	0	0	1	13779	1285	45	2		2	RSAD1	17	48562221	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	5926196	48562221	32632989	408	28923											
CACNA1G	8913	broad.mit.edu	37	chr17	48649309	48649309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgtcctgctgctctgcttCttcgtcttcttcatcttcgg	3	17	7	14	3	6	0	1	0	5	0	9	0	7	0	1	1	4	3	1	1	1	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:48649309C>T	ENST00000352832.5	+	5	1029	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CACNA1G_ENST00000514181.1_Silent_p.F219F|CACNA1G_ENST00000514717.1_Silent_p.F219F|CACNA1G_ENST00000507336.1_Silent_p.F219F|CACNA1G_ENST00000510366.1_Silent_p.F219F|CACNA1G_ENST00000416767.4_Silent_p.F219F|CACNA1G_ENST00000513689.2_Silent_p.F219F|CACNA1G_ENST00000359106.5_Silent_p.F219F|CACNA1G_ENST00000429973.2_Silent_p.F219F|CACNA1G_ENST00000513964.1_Silent_p.F219F|CACNA1G_ENST00000510115.1_Silent_p.F219F|CACNA1G_ENST00000442258.2_Silent_p.F219F|CACNA1G_ENST00000507609.1_Silent_p.F219F|CACNA1G_ENST00000515165.1_Silent_p.F219F|CACNA1G_ENST00000515765.1_Silent_p.F219F|CACNA1G_ENST00000503485.1_Silent_p.F219F|CACNA1G_ENST00000354983.4_Silent_p.F219F|CACNA1G_ENST00000507510.2_Silent_p.F219F|CACNA1G_ENST00000360761.4_Silent_p.F219F|CACNA1G_ENST00000507896.1_Silent_p.F219F|CACNA1G_ENST00000358244.5_Silent_p.F219F|CACNA1G_ENST00000502264.1_Silent_p.F219F|CACNA1G_ENST00000512389.1_Silent_p.F219F|CACNA1G_ENST00000514079.1_Silent_p.F219F|CACNA1G_ENST00000505165.1_Silent_p.F219F|CACNA1G_ENST00000515411.1_Silent_p.F219F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	219					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCTCTGCTTCTTCGTCTTCT	0.602													19	62					0	0	0	0	T	48649309	C	T	48649309	2	4	159	1	0	0	0	0	0	0	0	1	2569	912	32	2		2	CACNA1G	17	48649309	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	87088	48649309	32545901	409	28924											
MRPS23	51649	broad.mit.edu	37	chr17	55926767	55926767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccggcccgaaccaggtcccGagtccttagggagggaacag	9	4	14	14	3	0	0	0	0	0	0	2	4	2	2	5	4	2	0	5	4	3	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:55926767G>A	ENST00000313608.8	-	2	94	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	MRPS23_ENST00000578444.1_Missense_Mutation_p.R17W	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	17					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					ACCAGGTCCCGAGTCCTTAGG	0.562													17	53					0	0	0	0	A	55926767	G	A	55926767	3	1	159	1	0	0	0	0	1	0	0	0	9904	1057	37	1	539	1	MRPS23	17	55926767	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	7277458	55926767	25268443	410	28925											
CLTC	1213	broad.mit.edu	37	chr17	57751071	57751071	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgatttgactttgtccatGatttggtgctctatttatat	8	20	7	6	1	1	2	0	2	1	0	3	3	2	2	1	1	1	1	1	1	3	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:57751071G>C	ENST00000269122.3	+	15	2630	c.2356G>C	c.(2356-2358)Gat>Cat	p.D786H	CLTC_ENST00000393043.1_Missense_Mutation_p.D786H|CLTC_ENST00000579815.1_3'UTR|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	786	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTTTGTCCATGATTTGGTGCT	0.294			T	"ALK, TFE3"	"ALCL, renal "								15	32					0	0	0	0	C	57751071	G	C	57751071	3	2	159	1	0	0	0	0	1	0	0	0	3596	1290	45	2	2414	2	CLTC	17	57751071	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1824304	57751071	23444139	411	28926											
CA4	762	broad.mit.edu	37	chr17	58227442	58227442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctctccgcggcgcggccatCggccagtgcaggtgagctcc	4	6	14	17	5	1	1	0	1	1	0	4	1	2	1	5	4	2	2	5	4	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:58227442C>T	ENST00000300900.4	+	1	146	c.47C>T	c.(46-48)tCg>tTg	p.S16L		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	16					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCGCGGCCATCGGCCAGTGCA	0.761													9	19					0	0	0	0	T	58227442	C	T	58227442	3	4	159	1	0	0	0	0	1	0	0	0	2543	893	31	1	49	1	CA4	17	58227442	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	476371	58227442	22967768	412	28927											
C17orf77	146723	broad.mit.edu	37	chr17	72588340	72588340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagatggggacagccacAtggtcctgtctcctctcctc	7	9	11	14	0	2	1	0	0	2	1	6	3	3	2	4	3	1	1	4	3	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:72588340A>G	ENST00000392620.1	+	3	517	c.155A>G	c.(154-156)cAt>cGt	p.H52R	C17orf77_ENST00000328023.2_Missense_Mutation_p.H52R|CD300LD_ENST00000375352.1_Start_Codon_SNP_p.M1T	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	52						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GGACAGCCACATGGTCCTGTC	0.562													22	43					0	0	0	0	G	72588340	A	G	72588340	3	3	159	1	0	0	0	0	1	0	0	0	1898	217	8	5	157	5	C17orf77	17	72588340	Missense_Mutation	SNP	A	TCGA-CQ-7071-01A-12D-A30E-08	14360898	72588340	8606870	413	28928											
LGALS3BP	3959	broad.mit.edu	37	chr17	76967881	76967881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtaggcaatggtgcgatctGagccgccagacttggtgagg	8	8	16	9	3	1	3	0	2	1	1	1	4	1	3	2	4	2	2	2	4	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:76967881G>A	ENST00000262776.3	-	6	1843	c.1535C>T	c.(1534-1536)tCa>tTa	p.S512L	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	512					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGTGCGATCTGAGCCGCCAGA	0.607											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	43					0	0	0	0	A	76967881	G	A	76967881	3	1	159	1	0	0	0	0	1	0	0	0	8797	1294	45	2	226	2	LGALS3BP	17	76967881	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	4379541	76967881	4227329	414	28929											
LGALS3BP	3959	broad.mit.edu	37	chr17	76967898	76967898	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgagccgccagacttggtGaggcccaggacagggagctc	8	6	15	12	1	1	3	0	2	1	1	2	5	1	5	3	4	2	1	3	4	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:76967898G>A	ENST00000262776.3	-	6	1826	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	506					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGACTTGGTGAGGCCCAGGA	0.602											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	40					0	0	0	0	A	76967898	G	A	76967898	2	1	159	1	0	0	0	0	0	0	0	1	8797	1277	45	2		2	LGALS3BP	17	76967898	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	17	76967898	4227312	415	28930											
EMILIN2	84034	broad.mit.edu	37	chr18	2892385	2892385	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctcaggtcgcattccagaGacatttctggcctgaagaat	10	10	10	11	2	2	3	1	1	1	2	4	4	3	3	2	2	0	2	2	2	2	2	rs142546371		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:2892385G>C	ENST00000254528.3	+	4	2419	c.2260G>C	c.(2260-2262)Gac>Cac	p.D754H		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	754					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCATTCCAGAGACATTTCTGG	0.488													26	46					0	0	0	0	C	2892385	G	C	2892385	3	2	159	1	0	0	0	0	1	0	0	0	5132	942	33	2	2274	2	EMILIN2	18	2892385	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08		2892385	75184863	416	28931											
ROCK1	6093	broad.mit.edu	37	chr18	18549116	18549116	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctgttagctcttcattCtctcttcttaatatttcaat	7	22	2	10	0	7	0	2	0	5	0	9	0	7	0	0	0	1	2	0	0	4	8			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:18549116C>G	ENST00000399799.1	-	24	3814	c.2874G>C	c.(2872-2874)gaG>gaC	p.E958D		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	958	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GCTCTTCATTCTCTCTTCTTA	0.323													7	33					0	0	0	0	G	18549116	C	G	18549116	3	3	159	1	0	0	0	0	1	0	0	0	13602	912	32	2	1230	2	ROCK1	18	18549116	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	15656731	18549116	59528132	417	28932											
ROCK1	6093	broad.mit.edu	37	chr18	18608840	18608840	+	Missense_Mutation	SNP	C	C	T																															tcctttatcttcttccaagtCatcaaaattactagtatcaa																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:18608840C>T	ENST00000399799.1	-	10	2048	c.1108G>A	c.(1108-1110)Gac>Aac	p.D370N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	370	AGC-kinase C-terminal.|Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCTTCCAAGTCATCAAAATTA	0.333													33	64					0	0	0	0	T	18608840	C	T	18608840	3	4	159	1	0	0	0	0	1	0	0	0	13602	826	29	2	3052	2	ROCK1	18	18608840	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	59724	18608840	59468408	418	28933	223	2									
ROCK1	6093	broad.mit.edu	37	chr18	18608843	18608843	+	Missense_Mutation	SNP	C	C	T																															tttatcttcttccaagtcatCaaaattactagtatcaatgt																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:18608843C>T	ENST00000399799.1	-	10	2045	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	369	AGC-kinase C-terminal.|Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCAAGTCATCAAAATTACTA	0.328													32	59					0	0	0	0	T	18608843	C	T	18608843	3	4	159	1	0	0	0	0	1	0	0	0	13602	826	29	2	3055	2	ROCK1	18	18608843	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	3	18608843	59468405	419	28934	223	2									
ZNF532	55205	broad.mit.edu	37	chr18	56585722	56585722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcgttatcgtcaagaatgTtcggaacattgactcttccg	10	12	9	10	4	2	2	1	1	1	1	5	3	3	3	1	1	2	2	1	1	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:56585722T>C	ENST00000336078.4	+	4	979	c.203T>C	c.(202-204)gTt>gCt	p.V68A	ZNF532_ENST00000591808.1_Missense_Mutation_p.V68A|ZNF532_ENST00000591230.1_Missense_Mutation_p.V68A|ZNF532_ENST00000589288.1_Missense_Mutation_p.V68A|ZNF532_ENST00000591083.1_Missense_Mutation_p.V68A	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GTCAAGAATGTTCGGAACATT	0.517													16	39					0	0	0	0	C	56585722	T	C	56585722	3	2	159	1	0	0	0	0	1	0	0	0	18067	1725	60	5	205	5	ZNF532	18	56585722	Missense_Mutation	SNP	T	TCGA-CQ-7071-01A-12D-A30E-08	37976879	56585722	21491526	420	28935											
ZNF532	55205	broad.mit.edu	37	chr18	56586482	56586482	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgaatcccagaatctcatCgacgggaccaaaaaaccatc	15	6	6	14	2	1	2	1	1	1	1	5	4	2	3	4	1	1	0	4	1	5	0	rs149812809		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:56586482C>T	ENST00000336078.4	+	4	1739	c.963C>T	c.(961-963)atC>atT	p.I321I	ZNF532_ENST00000591808.1_Silent_p.I321I|ZNF532_ENST00000591230.1_Silent_p.I321I|ZNF532_ENST00000589288.1_Silent_p.I321I|ZNF532_ENST00000591083.1_Silent_p.I321I	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I321I(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGAATCTCATCGACGGGACCA	0.527													45	151					0	0	0	0	T	56586482	C	T	56586482	2	4	159	1	0	0	0	0	0	0	0	1	18067	874	31	1		1	ZNF532	18	56586482	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	760	56586482	21490766	421	28936											
ZNF532	55205	broad.mit.edu	37	chr18	56587240	56587240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctcgagtccaggtggtgtCgtccttgcagagttctgtgg	4	13	15	9	2	2	1	0	0	2	1	6	2	4	1	2	3	1	2	2	3	0	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:56587240C>T	ENST00000336078.4	+	4	2497	c.1721C>T	c.(1720-1722)tCg>tTg	p.S574L	ZNF532_ENST00000591808.1_Missense_Mutation_p.S574L|ZNF532_ENST00000591230.1_Missense_Mutation_p.S574L|ZNF532_ENST00000589288.1_Missense_Mutation_p.S574L|ZNF532_ENST00000591083.1_Missense_Mutation_p.S574L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAGGTGGTGTCGTCCTTGCAG	0.517													8	27					0	0	0	0	T	56587240	C	T	56587240	3	4	159	1	0	0	0	0	1	0	0	0	18067	893	31	1	1723	1	ZNF532	18	56587240	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	758	56587240	21490008	422	28937											
STK11	6794	broad.mit.edu	37	chr19	1221325	1221325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgactgtggccccccgctctCtgacctgctgaaaggtggga	6	8	13	14	2	1	2	0	2	1	0	2	4	1	3	4	3	1	2	4	3	1	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:1221325C>T	ENST00000326873.7	+	6	2021	c.848C>T	c.(847-849)tCt>tTt	p.S283F		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	283	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCGCTCTCTGACCTGCTG	0.627		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			8	17					0	0	0	0	T	1221325	C	T	1221325	3	4	159	1	0	0	0	0	1	0	0	0	15377	913	32	2	870	2	STK11	19	1221325	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08		1221325	57907658	423	28938											
LMNB2	84823	broad.mit.edu	37	chr19	2432468	2432468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgtgaacttgtaggcgatCtcctccccctccaagacctg	7	9	10	15	2	1	2	0	1	1	1	4	3	3	2	5	2	1	1	5	2	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:2432468C>G	ENST00000325327.3	-	9	1598	c.1536G>C	c.(1534-1536)gaG>gaC	p.E512D	LMNB2_ENST00000582871.1_Missense_Mutation_p.E492D			Q03252	LMNB2_HUMAN	lamin B2	492	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		TGTAGGCGATCTCCTCCCCCT	0.627													31	88					0	0	0	0	G	2432468	C	G	2432468	3	3	159	1	0	0	0	0	1	0	0	0	8905	912	32	2	342	2	LMNB2	19	2432468	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1211143	2432468	56696515	424	28939											
EEF2	1938	broad.mit.edu	37	chr19	3983259	3983259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatgaagttcaagtcattCtccgagagctcgtagaagag	12	11	11	7	2	3	5	2	2	1	3	5	6	3	5	1	0	1	3	1	0	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:3983259C>T	ENST00000309311.6	-	3	337	c.249G>A	c.(247-249)gaG>gaA	p.E83E	EEF2_ENST00000600720.1_5'UTR	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	83						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAGTCATTCTCCGAGAGCT	0.592													11	29					0	0	0	0	T	3983259	C	T	3983259	2	4	159	1	0	0	0	0	0	0	0	1	4965	912	32	2		2	EEF2	19	3983259	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1550791	3983259	55145724	425	28940											
ANKRD24	170961	broad.mit.edu	37	chr19	4224440	4224440	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctagggccagatggatgaaGatgtgcagcggattctcagc	10	8	14	9	1	1	3	1	1	1	2	2	5	1	5	2	3	3	1	2	3	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:4224440G>C	ENST00000600132.1	+	22	3655	c.3379G>C	c.(3379-3381)Gat>Cat	p.D1127H	ANKRD24_ENST00000318934.4_Missense_Mutation_p.D1127H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.D1217H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1127										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GATGGATGAAGATGTGCAGCG	0.592													10	14					0	0	0	0	C	4224440	G	C	4224440	3	2	159	1	0	0	0	0	1	0	0	0	653	942	33	2	3461	2	ANKRD24	19	4224440	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	241181	4224440	54904543	426	28941											
PLIN4	729359	broad.mit.edu	37	chr19	4510825	4510825	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccagttctggaaggtgctGaggccagtgtgggtggcccc	7	8	16	10	0	1	1	0	1	1	0	1	2	1	2	4	5	2	2	4	5	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:4510825G>C	ENST00000301286.3	-	3	3104	c.3105C>G	c.(3103-3105)ctC>ctG	p.L1035L		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1035						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGAAGGTGCTGAGGCCAGTGT	0.622													13	67					0	0	0	0	C	4510825	G	C	4510825	2	2	159	1	0	0	0	0	0	0	0	1	12164	1277	45	2		2	PLIN4	19	4510825	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	286385	4510825	54618158	427	28942											
DPP9	91039	broad.mit.edu	37	chr19	4714208	4714208	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttgcggctgccgtggatGatgctccggagcccgtccca	5	9	13	14	4	0	1	0	1	0	0	2	3	2	3	4	3	5	2	4	3	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:4714208G>A	ENST00000262960.9	-	4	475	c.198C>T	c.(196-198)atC>atT	p.I66I	DPP9_ENST00000597849.1_Silent_p.I66I|DPP9_ENST00000594671.1_Silent_p.I37I|DPP9_ENST00000598800.1_Silent_p.I37I	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	37					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TGCCGTGGATGATGCTCCGGA	0.672													6	14					0	0	0	0	A	4714208	G	A	4714208	2	1	159	1	0	0	0	0	0	0	0	1	4769	1280	45	2		2	DPP9	19	4714208	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	203383	4714208	54414775	428	28943											
PTPRS	5802	broad.mit.edu	37	chr19	5222967	5222967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagccagcggagaaggaCggtcccggccgaggcgttgc	7	4	18	12	5	0	1	0	0	0	1	1	4	1	2	3	6	3	2	3	6	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:5222967C>T	ENST00000372412.4	-	18	3072	c.2839G>A	c.(2839-2841)Gtc>Atc	p.V947I	PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.V924I|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.V942I|PTPRS_ENST00000357368.4_Missense_Mutation_p.V946I|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.V924I|PTPRS_ENST00000587303.1_Missense_Mutation_p.V946I			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	946	Fibronectin type-III 7.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGGAGAAGGACGGTCCCGGCC	0.746													3	4					0	0	0	0	T	5222967	C	T	5222967	3	4	159	1	0	0	0	0	1	0	0	0	12893	536	19	1	3094	1	PTPRS	19	5222967	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	508759	5222967	53906016	429	28944											
SAFB	6294	broad.mit.edu	37	chr19	5668195	5668195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagctttgccccaggcGgggcctcccggggccacccc	3	4	15	19	3	0	0	0	0	0	0	1	0	1	0	7	6	2	2	7	6	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:5668195G>A	ENST00000292123.5	+	21	2748	c.2641G>A	c.(2641-2643)Ggg>Agg	p.G881R	SAFB_ENST00000454510.1_Missense_Mutation_p.G814R|SAFB_ENST00000592224.1_Missense_Mutation_p.G882R|SAFB_ENST00000538656.1_Missense_Mutation_p.G725R|SAFB_ENST00000433404.1_Missense_Mutation_p.G713R|SAFB_ENST00000588852.1_Missense_Mutation_p.G883R	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	881	Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TGCCCCAGGCGGGGCCTCCCG	0.682													4	138					0	0	0	0	A	5668195	G	A	5668195	3	1	159	1	0	0	0	0	1	0	0	0	13891	1116	39	1	2723	1	SAFB	19	5668195	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	445228	5668195	53460788	430	28945											
GTF2F1	2962	broad.mit.edu	37	chr19	6389541	6389541	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acgatgccgtacttcttcctCcgagcctcctcccgaagctt	6	11	7	17	4	1	0	0	0	1	0	5	3	5	0	6	0	4	2	6	0	2	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:6389541C>G	ENST00000394456.5	-	4	704	c.240G>C	c.(238-240)cgG>cgC	p.R80R	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Silent_p.R52R	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	80					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						ACTTCTTCCTCCGAGCCTCCT	0.607													60	190					0	0	0	0	G	6389541	C	G	6389541	2	3	159	1	0	0	0	0	0	0	0	1	6908	842	30	2		2	GTF2F1	19	6389541	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	721346	6389541	52739442	431	28946											
ARHGEF18	23370	broad.mit.edu	37	chr19	7527213	7527216	+	Frame_Shift_Del	DEL	GAGC	GAGC	-																															ctaattctcaagtcggccatGagcgagagtaagttggctgc																								rs2303140		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:7527213_7527216delGAGC	ENST00000359920.6	+	11	2317_2320	c.2064_2067delGAGC	c.(2062-2067)atfs	p.MS688fs	ARHGEF18_ENST00000319670.9_Frame_Shift_Del_p.MS530fs|CTD-2207O23.3_ENST00000593531.1_Frame_Shift_Del_p.*A646fs	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	688					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.M530I(1)|p.M688I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGTCGGCCATGAGCGAGAGTAAGT	0.652													8	31	---	---	---	---					-	7527216	GAGC	-	7527213	7	5	159	1	0	1	0	1	0	0	0	0	903	1290	45	0	2106	0	ARHGEF18	19	7527213	Frame_Shift_Del	DEL	GAGC	TCGA-CQ-7071-01A-12D-A30E-08	1137672	7527213	51601770	432	28947											
PNPLA6	10908	broad.mit.edu	37	chr19	7601351	7601351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaggtgtcacaatccacctCctccctcgtggatacctctg	7	10	7	17	1	2	0	1	0	1	0	6	1	5	1	6	2	1	0	6	2	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:7601351C>T	ENST00000221249.6	+	6	646	c.215C>T	c.(214-216)tCc>tTc	p.S72F	PNPLA6_ENST00000545201.2_Missense_Mutation_p.S72F|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S72F|PNPLA6_ENST00000600737.1_Missense_Mutation_p.S111F|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S120F|CTD-2207O23.10_ENST00000601870.1_3'UTR	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	111					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CAATCCACCTCCTCCCTCGTG	0.547													11	30					0	0	0	0	T	7601351	C	T	7601351	3	4	159	1	0	0	0	0	1	0	0	0	12241	855	30	2	373	2	PNPLA6	19	7601351	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	74138	7601351	51527632	433	28948											
PNPLA6	10908	broad.mit.edu	37	chr19	7607554	7607554	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtccctggcagcccccgctCgggtaaggcttgggaccctg	4	7	15	15	2	0	0	0	0	0	0	2	1	1	1	4	5	1	4	4	5	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:7607554C>G	ENST00000221249.6	+	14	1674	c.1243C>G	c.(1243-1245)Cgg>Ggg	p.R415G	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R415G|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R415G|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R454G|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R463G	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	454					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCCCCCGCTCGGGTAAGGCT	0.706													13	32					0	0	0	0	G	7607554	C	G	7607554	3	3	159	1	0	0	0	0	1	0	0	0	12241	875	31	3	1433	3	PNPLA6	19	7607554	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	6203	7607554	51521429	434	28949											
CDC37	11140	broad.mit.edu	37	chr19	10506687	10506687	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catctcctccagcttctgctCccagctccgctcctccttgc	3	12	5	21	1	2	0	0	0	2	0	8	0	7	0	6	0	4	4	6	0	0	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:10506687C>G	ENST00000222005.2	-	2	348	c.295G>C	c.(295-297)Gag>Cag	p.E99Q		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	99					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGCTTCTGCTCCCAGCTCCGC	0.657													44	171					0	0	0	0	G	10506687	C	G	10506687	3	3	159	1	0	0	0	0	1	0	0	0	3097	864	30	2	869	2	CDC37	19	10506687	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2899133	10506687	48622296	435	28950											
PRKCSH	5589	broad.mit.edu	37	chr19	11559946	11559946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttcagtgccatgaagtatGagcaaggcacgggctgctgg	10	8	15	8	1	1	2	1	2	0	0	1	2	1	2	1	3	3	6	1	3	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:11559946G>A	ENST00000252455.2	+	16	1732	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	PRKCSH_ENST00000587327.1_Missense_Mutation_p.E463K|PRKCSH_ENST00000592741.1_Missense_Mutation_p.E473K|PRKCSH_ENST00000589838.1_Missense_Mutation_p.E466K|PRKCSH_ENST00000591462.1_Missense_Mutation_p.E463K|PRKCSH_ENST00000412601.1_Missense_Mutation_p.E463K	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	466	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CATGAAGTATGAGCAAGGCAC	0.682													25	65					0	0	0	0	A	11559946	G	A	11559946	3	1	159	1	0	0	0	0	1	0	0	0	12596	1291	45	2	1475	2	PRKCSH	19	11559946	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1053259	11559946	47569037	436	28951											
ZNF440	126070	broad.mit.edu	37	chr19	11943217	11943217	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagccttcagatctgcctCacaccttcgagtgcatggta	10	10	9	12	1	3	1	2	0	1	1	4	3	3	1	3	1	3	2	3	1	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:11943217C>G	ENST00000304060.5	+	4	1390	c.1226C>G	c.(1225-1227)tCa>tGa	p.S409*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGATCTGCCTCACACCTTCGA	0.458													26	75					0	0	0	0	G	11943217	C	G	11943217	4	3	159	1	0	0	0	0	0	1	0	0	18008	838	29	2	1240	2	ZNF440	19	11943217	Nonsense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	383271	11943217	47185766	437	28952											
ZNF763	284390	broad.mit.edu	37	chr19	12089178	12089178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccaaagccatataagtgtCaacaacctaagaaagccttc	17	7	5	12	0	1	1	1	0	0	1	2	1	1	1	4	0	4	0	4	0	7	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:12089178C>G	ENST00000343949.5	+	4	603	c.448C>G	c.(448-450)Caa>Gaa	p.Q150E	ZNF763_ENST00000590798.1_Missense_Mutation_p.Q167E|ZNF763_ENST00000538752.1_Missense_Mutation_p.Q167E|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000545530.1_Missense_Mutation_p.Q25E|ZNF763_ENST00000358987.3_Missense_Mutation_p.Q147E	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATATAAGTGTCAACAACCTAA	0.413													51	176					0	0	0	0	G	12089178	C	G	12089178	3	3	159	1	0	0	0	0	1	0	0	0	18231	827	29	2	462	2	ZNF763	19	12089178	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	145961	12089178	47039805	438	28953											
ZNF763	284390	broad.mit.edu	37	chr19	12089293	12089293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaacctttatttcccattCaggcattcgaagacgcatgg	13	11	7	10	2	1	1	1	0	0	1	3	2	2	1	2	2	1	2	2	2	4	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:12089293C>T	ENST00000343949.5	+	4	718	c.563C>T	c.(562-564)tCa>tTa	p.S188L	ZNF763_ENST00000590798.1_Missense_Mutation_p.S205L|ZNF763_ENST00000538752.1_Missense_Mutation_p.S205L|ZNF763_ENST00000545530.1_Missense_Mutation_p.S63L|ZNF763_ENST00000358987.3_Missense_Mutation_p.S185L	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATTTCCCATTCAGGCATTCGA	0.413													45	125					0	0	0	0	T	12089293	C	T	12089293	3	4	159	1	0	0	0	0	1	0	0	0	18231	838	29	2	577	2	ZNF763	19	12089293	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	115	12089293	47039690	439	28954											
WIZ	58525	broad.mit.edu	37	chr19	15535124	15535124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccagcttctgctgtaggtCattggtgtcctcgcctcccc	3	13	9	16	1	2	0	1	0	1	0	6	0	5	0	5	2	2	3	5	2	1	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:15535124C>T	ENST00000389282.4	-	9	4879	c.4666G>A	c.(4666-4668)Gac>Aac	p.D1556N	WIZ_ENST00000545156.1_Missense_Mutation_p.D870N|WIZ_ENST00000599686.2_Missense_Mutation_p.D740N|WIZ_ENST00000599910.1_Missense_Mutation_p.D873N|WIZ_ENST00000263381.6_Missense_Mutation_p.D699N			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1556						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TGCTGTAGGTCATTGGTGTCC	0.657													22	38					0	0	0	0	T	15535124	C	T	15535124	3	4	159	1	0	0	0	0	1	0	0	0	17471	826	29	2	297	2	WIZ	19	15535124	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	3445831	15535124	43593859	440	28955											
MYO9B	4650	broad.mit.edu	37	chr19	17213220	17213220	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatgctcaggaagcgcgtGaaccagtgcatcgtgatctc	10	8	11	12	3	2	2	1	2	1	0	4	3	2	3	2	1	4	2	2	1	2	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:17213220G>A	ENST00000595618.1	+	2	845	c.693G>A	c.(691-693)gtG>gtA	p.V231V	MYO9B_ENST00000593411.1_3'UTR|MYO9B_ENST00000397274.2_Silent_p.V231V|MYO9B_ENST00000594824.1_Silent_p.V231V	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	231	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGAAGCGCGTGAACCAGTGCA	0.607													32	67					0	0	0	0	A	17213220	G	A	17213220	2	1	159	1	0	0	0	0	0	0	0	1	10155	1277	45	2		2	MYO9B	19	17213220	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1678096	17213220	41915763	441	28956											
MAP1S	55201	broad.mit.edu	37	chr19	17837872	17837872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgaatgcccaggcggcacCcaagccccgcaaagcgccca	11	1	11	18	4	0	0	0	0	0	0	0	2	0	0	5	2	3	2	5	2	3	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:17837872C>T	ENST00000324096.4	+	5	1830	c.1679C>T	c.(1678-1680)cCc>cTc	p.P560L	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.P534L	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	560	Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CAGGCGGCACCCAAGCCCCGC	0.687													4	8					0	0	0	0	T	17837872	C	T	17837872	3	4	159	1	0	0	0	0	1	0	0	0	9303	623	22	4	1697	4	MAP1S	19	17837872	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	624652	17837872	41291111	442	28957											
ZNF506	440515	broad.mit.edu	37	chr19	19905518	19905518	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacatttgtacggtttctctCcagtatgaattatcttatgt	9	18	6	8	1	2	1	0	1	2	0	4	1	3	1	1	1	1	3	1	1	5	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:19905518C>G	ENST00000443905.2	-	4	1325	c.1178G>C	c.(1177-1179)gGa>gCa	p.G393A	ZNF506_ENST00000450683.2_Missense_Mutation_p.G361A|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000587461.1_Intron|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000540806.2_Missense_Mutation_p.G393A			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CGGTTTCTCTCCAGTATGAAT	0.378													20	55					0	0	0	0	G	19905518	C	G	19905518	3	3	159	1	0	0	0	0	1	0	0	0	18047	855	30	2	160	2	ZNF506	19	19905518	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2067646	19905518	39223465	443	28958											
ZNF208	7757	broad.mit.edu	37	chr19	22154795	22154795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttatgttccataaggtttGatgaccagttgaaagctttg	10	16	9	6	0	1	3	0	3	1	0	2	3	2	3	2	1	1	4	2	1	3	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:22154795G>A	ENST00000397126.4	-	4	3189	c.3041C>T	c.(3040-3042)tCa>tTa	p.S1014L	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATAAGGTTTGATGACCAGTT	0.398													35	76					0	0	0	0	A	22154795	G	A	22154795	3	1	159	1	0	0	0	0	1	0	0	0	17861	1294	45	2	805	2	ZNF208	19	22154795	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	2249277	22154795	36974188	444	28959											
ZNF675	171392	broad.mit.edu	37	chr19	23836960	23836960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggctttgccacattcttCacatttgtatggtttctctc	8	17	6	10	0	3	0	1	0	2	0	5	0	3	0	1	2	1	3	1	2	2	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:23836960C>T	ENST00000359788.4	-	4	943	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	259					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCACATTCTTCACATTTGTAT	0.358													26	45					0	0	0	0	T	23836960	C	T	23836960	3	4	159	1	0	0	0	0	1	0	0	0	18177	835	29	2	935	2	ZNF675	19	23836960	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1682165	23836960	35292023	445	28960											
CHST8	64377	broad.mit.edu	37	chr19	34262945	34262945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacttatccagtggggccccGaggggccgcaacctgccagc	7	5	14	15	2	0	0	0	0	0	0	1	2	1	0	6	4	3	1	6	4	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:34262945G>A	ENST00000262622.3	+	4	1010	c.252G>A	c.(250-252)ccG>ccA	p.P84P	CHST8_ENST00000434302.1_Silent_p.P84P|CHST8_ENST00000438847.2_Silent_p.P84P	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	84					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GTGGGGCCCCGAGGGGCCGCA	0.667													22	62					0	0	0	0	A	34262945	G	A	34262945	2	1	159	1	0	0	0	0	0	0	0	1	3439	1045	37	1		1	CHST8	19	34262945	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	10425985	34262945	24866038	446	28961											
ZNF573	126231	broad.mit.edu	37	chr19	38230909	38230909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacactctttgcattcatagGgtctctcaatgacatgaaac	12	12	6	11	0	4	2	2	2	2	0	5	2	4	2	0	1	2	1	0	1	3	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:38230909G>T	ENST00000339503.4	-	8	809	c.308C>A	c.(307-309)cCc>cAc	p.P103H	ZNF573_ENST00000536220.1_Missense_Mutation_p.P73H|ZNF573_ENST00000585724.1_3'UTR|ZNF573_ENST00000392138.1_Missense_Mutation_p.P74H|ZNF573_ENST00000590414.2_Missense_Mutation_p.P161H|ZNF573_ENST00000357309.3_Missense_Mutation_p.P73H	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GCATTCATAGGGTCTCTCAAT	0.353													22	65					8.04996e-18	8.66918e-18	1	0	T	38230909	G	T	38230909	3	4	159	1	0	0	0	0	1	0	0	0	18100	1232	43	4	1519	4	ZNF573	19	38230909	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3967964	38230909	20898074	447	28962											
RYR1	6261	broad.mit.edu	37	chr19	38979979	38979979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaaacagcacaggaaaagGaagatgaggaaaaagaggaa	23	1	14	3	0	0	3	0	1	0	2	0	8	0	8	0	5	2	1	0	5	7	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:38979979G>A	ENST00000355481.4	+	35	5841	c.5710G>A	c.(5710-5712)Gaa>Aaa	p.E1904K	RYR1_ENST00000359596.3_Missense_Mutation_p.E1904K|RYR1_ENST00000360985.3_Missense_Mutation_p.E1904K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1904	6 X approximate repeats.|Glu-rich (acidic).				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	acaggaaaaggaagatgagga	0.517													23	47					0	0	0	0	A	38979979	G	A	38979979	3	1	159	1	0	0	0	0	1	0	0	0	13853	1175	41	2	5848	2	RYR1	19	38979979	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	749070	38979979	20149004	448	28963											
SIRT2	22933	broad.mit.edu	37	chr19	39369868	39369868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggacttcttgggggaagctGaagtgctggggttggggacc	6	9	20	6	0	1	1	0	1	1	0	1	4	1	4	1	7	2	3	1	7	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:39369868G>A	ENST00000249396.7	-	16	1398	c.1097C>T	c.(1096-1098)tCa>tTa	p.S366L	SIRT2_ENST00000358931.5_3'UTR|SIRT2_ENST00000392081.2_Missense_Mutation_p.S329L	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	366					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GGGGGAAGCTGAAGTGCTGGG	0.647													15	40					0	0	0	0	A	39369868	G	A	39369868	3	1	159	1	0	0	0	0	1	0	0	0	14426	1294	45	2	76	2	SIRT2	19	39369868	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	389889	39369868	19759115	449	28964											
MED29	55588	broad.mit.edu	37	chr19	39882005	39882005	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactagaaatagggatgctGaaaagcaacggggagagacg	16	4	16	5	2	0	3	0	1	0	2	0	7	0	6	0	4	3	2	0	4	6	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:39882005G>A	ENST00000315588.5	+	1	55	c.6G>A	c.(4-6)ctG>ctA	p.L2L		NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TAGGGATGCTGAAAAGCAACG	0.572													9	28					0	0	0	0	A	39882005	G	A	39882005	2	1	159	1	0	0	0	0	0	0	0	1	9516	1277	45	2		2	MED29	19	39882005	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	512137	39882005	19246978	450	28965											
ZNF235	9310	broad.mit.edu	37	chr19	44791652	44791652	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctccagtgtgaattatctGatggacttgaagatttgacc	10	14	9	8	0	2	5	0	4	2	1	3	6	2	6	2	1	0	0	2	1	3	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:44791652G>A	ENST00000291182.4	-	5	2038	c.1936C>T	c.(1936-1938)Cag>Tag	p.Q646*	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TGAATTATCTGATGGACTTGA	0.468													44	112					0	0	0	0	A	44791652	G	A	44791652	4	1	159	1	0	0	0	0	0	1	0	0	17883	1299	45	2	284	2	ZNF235	19	44791652	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	4909647	44791652	14337331	451	28966											
PVRL2	5819	broad.mit.edu	37	chr19	45391565	45391565	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaccccatctatgatgctCtgtcctatagcagcccctct	8	12	5	16	0	4	1	1	1	3	0	5	1	5	1	5	0	4	2	5	0	4	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:45391565C>T	ENST00000252483.5	+	9	1546	c.1546C>T	c.(1546-1548)Ctg>Ttg	p.L516L	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	516					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CTATGATGCTCTGTCCTATAG	0.557													16	57					0	0	0	0	T	45391565	C	T	45391565	2	4	159	1	0	0	0	0	0	0	0	1	12922	912	32	2		2	PVRL2	19	45391565	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	599913	45391565	13737418	452	28967											
CPT1C	126129	broad.mit.edu	37	chr19	50215191	50215191	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacatcgtgtcccgattcctCcacctgcagtcgcccttcct	5	12	6	18	3	0	0	0	0	0	0	6	1	4	0	6	0	2	1	6	0	1	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:50215191C>T	ENST00000392518.4	+	17	2364	c.1992C>T	c.(1990-1992)ctC>ctT	p.L664L	CPT1C_ENST00000598293.1_Silent_p.L664L|CPT1C_ENST00000354199.5_Intron|CPT1C_ENST00000323446.5_Silent_p.L664L|CPT1C_ENST00000405931.2_Silent_p.L653L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	664					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCCGATTCCTCCACCTGCAGT	0.607													17	45					0	0	0	0	T	50215191	C	T	50215191	2	4	159	1	0	0	0	0	0	0	0	1	3863	842	30	2		2	CPT1C	19	50215191	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	4823626	50215191	8913792	453	28968											
POLD1	5424	broad.mit.edu	37	chr19	50902177	50902178	+	In_Frame_Ins	INS	-	-	GAT																															gggcccgtgggggcctctggINSgatgatgatgatgcacctcg																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:50902177_50902178insGAT	ENST00000440232.2	+	2	122_123	c.69_70insGAT	c.(67-72)tgatga>tgGATatga	p.23_23*>WI	POLD1_ENST00000599857.1_In_Frame_Ins_p.23_23*>WI|POLD1_ENST00000595904.1_In_Frame_Ins_p.23_23*>WI	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	23					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGGGCCTCTGGGATGATGATGA	0.653								DNA polymerases (catalytic subunits)					3	5	---	---	---	---					GAT	50902178	-	GAT	50902177	7	5	159	1	0	1	1	0	0	0	0	0	12262	1241	43	0	71	0	POLD1	19	50902177	In_Frame_Ins	INS	-	TCGA-CQ-7071-01A-12D-A30E-08	686986	50902177	8226806	454	28969											
GPR32	2854	broad.mit.edu	37	chr19	51274484	51274484	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatttggattgaaggggtCgtggagggacacattatagg	11	10	16	4	1	0	2	0	1	0	1	1	5	0	5	0	6	0	0	0	6	3	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:51274484C>A	ENST00000270590.4	+	1	764	c.627C>A	c.(625-627)gtC>gtA	p.V209V		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	209						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TTGAAGGGGTCGTGGAGGGAC	0.547													6	49					3.59834e-05	3.65771e-05	1	0	A	51274484	C	A	51274484	2	1	159	1	0	0	0	0	0	0	0	1	6737	871	31	3		3	GPR32	19	51274484	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	372307	51274484	7854499	455	28970											
SIGLEC5	8778	broad.mit.edu	37	chr19	52130854	52130854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgagctggagttgaccttGaatgagccctggctgctgtt	6	12	14	9	0	0	4	0	4	0	0	0	5	0	5	2	2	3	6	2	2	1	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:52130854G>C	ENST00000222107.4	-	6	1281	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	SIGLEC5_ENST00000599649.1_Missense_Mutation_p.F381L|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.F381L|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.F381L|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.F381L			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	381					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AGTTGACCTTGAATGAGCCCT	0.652													15	41					0	0	0	0	C	52130854	G	C	52130854	3	2	159	1	0	0	0	0	1	0	0	0	14399	1281	45	2	528	2	SIGLEC5	19	52130854	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	856370	52130854	6998129	456	28971											
MYADM	91663	broad.mit.edu	37	chr19	54377298	54377298	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactggctatatggccaccgTacccgggctgctgaaggtgc	7	8	13	13	2	0	1	0	1	0	0	0	1	0	1	3	4	3	4	3	4	4	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:54377298T>C	ENST00000391769.2	+	3	795	c.515T>C	c.(514-516)gTa>gCa	p.V172A	MYADM_ENST00000336967.3_Missense_Mutation_p.V172A|MYADM_ENST00000391768.2_Missense_Mutation_p.V172A|MYADM_ENST00000391770.4_Missense_Mutation_p.V172A|MYADM_ENST00000391771.1_Missense_Mutation_p.V172A	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	172	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ATGGCCACCGTACCCGGGCTG	0.652													32	82					0	0	0	0	C	54377298	T	C	54377298	3	2	159	1	0	0	0	0	1	0	0	0	10076	1638	57	5	517	5	MYADM	19	54377298	Missense_Mutation	SNP	T	TCGA-CQ-7071-01A-12D-A30E-08	2246444	54377298	4751685	457	28972											
PTPRH	5794	broad.mit.edu	37	chr19	55715379	55715379	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggagatggagctggtggtCtgagcctccactctcaggtt	7	10	15	9	0	2	2	1	1	2	1	4	4	3	3	2	5	2	2	2	5	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:55715379C>G	ENST00000376350.3	-	5	679	c.657G>C	c.(655-657)caG>caC	p.Q219H	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	219	Fibronectin type-III 3.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGCTGGTGGTCTGAGCCTCCA	0.547													22	78					0	0	0	0	G	55715379	C	G	55715379	3	3	159	1	0	0	0	0	1	0	0	0	12885	912	32	2	2754	2	PTPRH	19	55715379	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1338081	55715379	3413604	458	28973											
ZNF582	147948	broad.mit.edu	37	chr19	56895260	56895260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgggctttccccattacttCcattcatatggttgcttgcc	6	16	7	12	0	1	0	1	0	0	0	3	0	3	0	4	2	3	3	4	2	2	7			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:56895260C>T	ENST00000301310.4	-	5	1684	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E	ZNF582_ENST00000586929.1_Missense_Mutation_p.G509E	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CCCATTACTTCCATTCATATG	0.398													43	86					0	0	0	0	T	56895260	C	T	56895260	3	4	159	1	0	0	0	0	1	0	0	0	18109	855	30	2	31	2	ZNF582	19	56895260	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1179881	56895260	2233723	459	28974											
ZNF814	730051	broad.mit.edu	37	chr19	58384327	58384327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttagtgagactggagctttCagcaaaagattttccacatt	12	14	8	7	0	1	2	1	1	0	2	2	4	2	3	1	1	2	2	1	1	3	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:58384327C>T	ENST00000435989.2	-	3	2665	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	811					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CTGGAGCTTTCAGCAAAAGAT	0.388													13	47					0	0	0	0	T	58384327	C	T	58384327	3	4	159	1	0	0	0	0	1	0	0	0	18269	835	29	2	140	2	ZNF814	19	58384327	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1489067	58384327	744656	460	28975											
ZNF274	10782	broad.mit.edu	37	chr19	58718244	58718244	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgctgaagatggaagcctGagtgcagatgcccccagtga	11	8	13	9	0	0	5	0	3	0	2	0	6	0	6	3	1	4	2	3	1	3	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:58718244G>C	ENST00000326804.4	+	5	873	c.414G>C	c.(412-414)ctG>ctC	p.L138L	ZNF274_ENST00000424679.2_Silent_p.L33L|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.L106L	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	138					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ATGGAAGCCTGAGTGCAGATG	0.577													8	22					0	0	0	0	C	58718244	G	C	58718244	2	2	159	1	0	0	0	0	0	0	0	1	17904	1277	45	2		2	ZNF274	19	58718244	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	333917	58718244	410739	461	28976											
FASTKD5	60493	broad.mit.edu	37	chr20	3128827	3128827	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccaatttttgcattaggTcctgggatacctgacgattt	9	16	8	8	1	0	1	0	1	0	0	2	3	2	2	3	2	2	1	3	2	3	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:3128827T>C	ENST00000380266.3	-	2	1211	c.890A>G	c.(889-891)gAc>gGc	p.D297G	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	297					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TTGCATTAGGTCCTGGGATAC	0.338													22	65					0	0	0	0	C	3128827	T	C	3128827	3	2	159	1	0	0	0	0	1	0	0	0	5733	1667	58	5	1408	5	FASTKD5	20	3128827	Missense_Mutation	SNP	T	TCGA-CQ-7071-01A-12D-A30E-08		3128827	59896693	462	28977											
PCNA	5111	broad.mit.edu	37	chr20	5096200	5096200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagttagttgaactggttCattcatctctatggtaacct	12	15	7	7	0	3	1	2	1	1	0	4	1	3	1	1	2	2	4	1	2	6	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:5096200C>T	ENST00000379160.3	-	6	843	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	PCNA_ENST00000379143.5_Missense_Mutation_p.E201K	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	201					cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						TGAACTGGTTCATTCATCTCT	0.358								DNA polymerases (catalytic subunits)					26	62					0	0	0	0	T	5096200	C	T	5096200	3	4	159	1	0	0	0	0	1	0	0	0	11659	835	29	2	192	2	PCNA	20	5096200	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1967373	5096200	57929320	463	28978											
PLK1S1	55857	broad.mit.edu	37	chr20	21227155	21227155	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgacagtaactcagaaattGaggctgctttacgccccaga	13	9	9	10	1	1	4	1	2	0	2	1	4	1	4	2	1	3	3	2	1	3	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:21227155G>C	ENST00000457464.1	+	0	3750							Q2M2Z5	KIZ_HUMAN	polo-like kinase 1 substrate 1						spindle organization	centrosome	protein kinase binding										CTCAGAAATTGAGGCTGCTTT	0.373													6	19					0	0	0	0	C	21227155	G	C	21227155	1	2	159	0	1	0	0	0	0	0	0	0	12167	1291	45	2		2	PLK1S1	20	21227155	RNA	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	16130955	21227155	41798365	464	28979											
CST4	1472	broad.mit.edu	37	chr20	23669456	23669456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgtactcgctgatggCgaagtgaagggcacgctgta	8	11	14	8	3	0	2	0	2	0	0	1	3	0	2	0	2	1	6	0	2	4	4	rs150280233	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:23669456C>T	ENST00000217423.3	-	1	221	c.151G>A	c.(151-153)Gcc>Acc	p.A51T		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	51						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TCGCTGATGGCGAAGTGAAGG	0.592													19	61					0	0	0	0	T	23669456	C	T	23669456	3	4	159	1	0	0	0	0	1	0	0	0	4006	768	27	1	286	1	CST4	20	23669456	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2442301	23669456	39356064	465	28980											
DNMT3B	1789	broad.mit.edu	37	chr20	31395680	31395680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatccgacacctcttcgccCctctgaaggactactttgca	8	11	6	16	2	3	1	1	1	2	0	5	3	4	2	4	1	2	1	4	1	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:31395680C>T	ENST00000328111.2	+	23	2854	c.2533C>T	c.(2533-2535)Cct>Tct	p.P845S	DNMT3B_ENST00000201963.3_Missense_Mutation_p.P837S|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P762S|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P720S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P785L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.P686S|DNMT3B_ENST00000353855.2_Missense_Mutation_p.P825S	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	845					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTTCGCCCCTCTGAAGGA	0.607													34	122					0	0	0	0	T	31395680	C	T	31395680	3	4	159	1	0	0	0	0	1	0	0	0	4713	623	22	4	2659	4	DNMT3B	20	31395680	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	7726224	31395680	31629840	466	28981											
MYH7B	57644	broad.mit.edu	37	chr20	33587632	33587632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagaccaagacgctgcggatCcagctggagctctcccaggt	9	6	13	13	2	1	2	0	0	1	2	3	5	2	4	3	3	3	3	3	3	1	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:33587632C>G	ENST00000262873.7	+	36	4922	c.4830C>G	c.(4828-4830)atC>atG	p.I1610M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1568						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGCTGCGGATCCAGCTGGAGC	0.637													16	44					0	0	0	0	G	33587632	C	G	33587632	3	3	159	1	0	0	0	0	1	0	0	0	10110	845	30	2	4972	2	MYH7B	20	33587632	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	2191952	33587632	29437888	467	28982											
RALGAPB	57148	broad.mit.edu	37	chr20	37154617	37154617	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttctgtccctgaagttgaGacttgtgaatatattaatag	11	17	8	5	0	1	3	0	3	1	1	2	4	2	3	1	0	0	1	1	0	6	8			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:37154617G>C	ENST00000262879.6	+	13	2266	c.1982G>C	c.(1981-1983)aGa>aCa	p.R661T	RALGAPB_ENST00000397038.1_Missense_Mutation_p.R439T|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R661T|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R661T			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	661					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTGAAGTTGAGACTTGTGAAT	0.353													22	100					0	0	0	0	C	37154617	G	C	37154617	3	2	159	1	0	0	0	0	1	0	0	0	13097	942	33	2	2028	2	RALGAPB	20	37154617	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3566985	37154617	25870903	468	28983											
NPEPL1	79716	broad.mit.edu	37	chr20	57282209	57282209	+	Frame_Shift_Del	DEL	G	G	-																															cggggatgaagcgagactgcGggggtgctgcggccgtcctg																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:57282209delG	ENST00000356091.6	+	7	1141	c.853delG	c.(853-855)ggfs	p.G286fs	NPEPL1_ENST00000525967.1_Frame_Shift_Del_p.G258fs|NPEPL1_ENST00000525817.1_Frame_Shift_Del_p.G238fs|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	286					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GCGAGACTGCGGGGGTGCTGC	0.682													2	4	---	---	---	---					-	57282209	G	-	57282209	7	5	159	1	0	1	0	1	0	0	0	0	10644	1116	39	0	725	0	NPEPL1	20	57282209	Frame_Shift_Del	DEL	G	TCGA-CQ-7071-01A-12D-A30E-08	20127592	57282209	5743311	469	28984											
ADRM1	11047	broad.mit.edu	37	chr20	60881334	60881334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccgatgcctggggcgctgGgggccagcggaagcagcggc	5	3	19	14	4	0	0	0	0	0	0	0	2	0	1	4	6	4	2	4	6	1	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:60881334G>T	ENST00000253003.2	+	4	458	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W	ADRM1_ENST00000462554.1_3'UTR|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	138	Gly-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			TGGGGCGCTGGGGGCCAGCGG	0.597													44	132					1.48734e-19	1.61303e-19	1	0	T	60881334	G	T	60881334	3	4	159	1	0	0	0	0	1	0	0	0	345	1232	43	4	422	4	ADRM1	20	60881334	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3599125	60881334	2144186	470	28985											
TPTE	7179	broad.mit.edu	37	chr21	10910342	10910342	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactttcacatcatcatacaGaggtagaccgtcgaatacat	14	10	6	11	2	3	2	3	0	0	2	4	3	3	2	1	1	2	1	1	1	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:10910342G>C	ENST00000298232.7	-	21	1727	c.1360C>G	c.(1360-1362)Ctg>Gtg	p.L454V	TPTE_ENST00000361285.4_Missense_Mutation_p.L472V|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.L434V	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	472	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATCATACAGAGGTAGACCG	0.338													13	127					0	0	0	0	C	10910342	G	C	10910342	3	2	159	1	0	0	0	0	1	0	0	0	16525	933	33	2	253	2	TPTE	21	10910342	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08		10910342	37219553	471	28986											
OLIG1	116448	broad.mit.edu	37	chr21	34442897	34442897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagatcaacagccgcgagcgGaagcgcatgcaggacctgaa	14	3	13	11	4	1	2	1	1	0	1	1	5	1	4	2	2	5	2	2	2	4	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:34442897G>A	ENST00000382348.1	+	1	448	c.345G>A	c.(343-345)cgG>cgA	p.R115R	OLIG1_ENST00000333063.5_Silent_p.R99R|AP000282.2_ENST00000420356.1_RNA|AP000282.2_ENST00000454622.1_RNA	NM_138983.2	NP_620450.2	Q8TAK6	OLIG1_HUMAN	oligodendrocyte transcription factor 1	115					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						GCCGCGAGCGGAAGCGCATGC	0.741													5	19					0	0	0	0	A	34442897	G	A	34442897	2	1	159	1	0	0	0	0	0	0	0	1	10931	1161	41	2		2	OLIG1	21	34442897	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	23532555	34442897	13686998	472	28987											
ETS2	2114	broad.mit.edu	37	chr21	40190567	40190568	+	Frame_Shift_Del	DEL	TC	TC	-																															tgaatttgctcaccaacaatTctggtaagattggaagcatc																										TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:40190567_40190568delTC	ENST00000360214.3	+	8	1268_1269	c.808_809delTC	c.(808-810)tfs	p.S270fs	ETS2_ENST00000360938.3_Frame_Shift_Del_p.S270fs	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	270					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CACCAACAATTCTGGTAAGATT	0.47													69	152	---	---	---	---					-	40190568	TC	-	40190567	7	5	159	1	0	1	0	1	0	0	0	0	5314	1783	62	0	830	0	ETS2	21	40190567	Frame_Shift_Del	DEL	TC	TCGA-CQ-7071-01A-12D-A30E-08	5747670	40190567	7939328	473	28988											
PFKL	5211	broad.mit.edu	37	chr21	45736388	45736388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcggggagggacgccctCtgccttcgaccggatcctgg	5	6	16	14	4	1	0	0	0	1	0	3	4	2	3	4	5	2	1	4	5	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:45736388C>T	ENST00000403390.1	+	10	1058	c.1058C>T	c.(1057-1059)tCt>tTt	p.S353F	PFKL_ENST00000349048.4_Missense_Mutation_p.S306F			P17858	K6PL_HUMAN	phosphofructokinase, liver	306					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGGACGCCCTCTGCCTTCGAC	0.657													13	56					0	0	0	0	T	45736388	C	T	45736388	3	4	159	1	0	0	0	0	1	0	0	0	11836	913	32	2	951	2	PFKL	21	45736388	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	5545821	45736388	2393507	474	28989											
COL6A2	1292	broad.mit.edu	37	chr21	47532724	47532724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgtcttttctgcagaaacacGaagcctacggagaggtgagt	11	10	12	8	2	2	3	0	1	2	2	2	5	2	3	1	2	4	1	1	2	3	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:47532724G>C	ENST00000300527.4	+	4	825	c.721G>C	c.(721-723)Gaa>Caa	p.E241Q	COL6A2_ENST00000357838.4_Missense_Mutation_p.E241Q|COL6A2_ENST00000310645.5_Missense_Mutation_p.E241Q|COL6A2_ENST00000409416.1_Missense_Mutation_p.E241Q|COL6A2_ENST00000397763.1_Missense_Mutation_p.E241Q|COL6A2_ENST00000460886.1_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	241	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCAGAAACACGAAGCCTACGG	0.642													17	56					0	0	0	0	C	47532724	G	C	47532724	3	2	159	1	0	0	0	0	1	0	0	0	3730	1059	37	3	731	3	COL6A2	21	47532724	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1796336	47532724	597171	475	28990											
MICAL3	57553	broad.mit.edu	37	chr22	18364025	18364025	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagggggaggagacagggtGatcacttttttggggcaggt	8	10	19	4	0	1	2	1	1	0	1	1	4	1	3	0	7	0	2	0	7	1	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:18364025G>A	ENST00000429452.1	-	17	2638	c.2286C>T	c.(2284-2286)atC>atT	p.I762I	MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000585038.1_Silent_p.I762I|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000441493.2_Intron	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1249	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GAGACAGGGTGATCACTTTTT	0.547													30	109					0	0	0	0	A	18364025	G	A	18364025	2	1	159	1	0	0	0	0	0	0	0	1	9640	1280	45	2		2	MICAL3	22	18364025	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08		18364025	32940541	476	28991											
CRYBB3	1417	broad.mit.edu	37	chr22	25599781	25599781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggagcagtttgttctggaGaagggggattatcctcgctg	7	11	17	6	1	1	1	0	0	1	1	3	4	2	3	1	5	1	4	1	5	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:25599781G>A	ENST00000215855.2	+	4	326	c.246G>A	c.(244-246)gaG>gaA	p.E82E	CRYBB3_ENST00000404334.1_Silent_p.E82E	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	82	Beta/gamma crystallin 'Greek key' 2.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						TTGTTCTGGAGAAGGGGGATT	0.582													51	152					0	0	0	0	A	25599781	G	A	25599781	2	1	159	1	0	0	0	0	0	0	0	1	3942	933	33	2		2	CRYBB3	22	25599781	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	7235756	25599781	25704785	477	28992											
CRYBA4	1413	broad.mit.edu	37	chr22	27024347	27024347	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatccttccctccaggccatGggatgggaaggcaatgaagt	10	9	12	10	0	0	1	0	1	0	0	3	3	3	3	4	4	0	1	4	4	4	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:27024347G>C	ENST00000354760.3	+	5	431	c.396G>C	c.(394-396)atG>atC	p.M132I	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	132	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TCCAGGCCATGGGATGGGAAG	0.562													30	74					0	0	0	0	C	27024347	G	C	27024347	3	2	159	1	0	0	0	0	1	0	0	0	3939	1348	47	4	410	4	CRYBA4	22	27024347	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1424566	27024347	24280219	478	28993											
MTMR3	8897	broad.mit.edu	37	chr22	30415704	30415704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttgcagccggagtagctGaggggcagatggagaacatc	10	7	16	8	1	0	3	0	1	0	2	1	5	0	4	1	4	4	5	1	4	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:30415704G>A	ENST00000333027.3	+	17	2384	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K	MTMR3_ENST00000406629.1_Missense_Mutation_p.E686K|MTMR3_ENST00000323630.5_Missense_Mutation_p.E550K|MTMR3_ENST00000401950.2_Missense_Mutation_p.E686K|MTMR3_ENST00000351488.3_Missense_Mutation_p.E686K|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	686					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CGGAGTAGCTGAGGGGCAGAT	0.607													41	90					0	0	0	0	A	30415704	G	A	30415704	3	1	159	1	0	0	0	0	1	0	0	0	10015	1291	45	2	2114	2	MTMR3	22	30415704	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3391357	30415704	20888862	479	28994											
DNAL4	10126	broad.mit.edu	37	chr22	39176933	39176933	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcactgctggcaatacctCgttgttgttggagaatttct	7	15	10	9	1	1	1	0	0	1	1	2	2	1	1	1	2	3	6	1	2	3	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:39176933C>A	ENST00000216068.4	-	3	395	c.151G>T	c.(151-153)Gag>Tag	p.E51*	DNAL4_ENST00000406199.3_Nonsense_Mutation_p.E51*|SUN2_ENST00000406622.1_Intron|DNAL4_ENST00000486019.1_Intron	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN	dynein, axonemal, light chain 4	51					microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity			lung(1)|skin(1)	2	Melanoma(58;0.04)					GGCAATACCTCGTTGTTGTTG	0.572													13	40					2.27111e-07	2.33167e-07	1	0	A	39176933	C	A	39176933	4	1	159	1	0	0	0	0	0	1	0	0	4694	893	31	3	174	3	DNAL4	22	39176933	Nonsense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	8761229	39176933	12127633	480	28995											
MCHR1	2847	broad.mit.edu	37	chr22	41077127	41077127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcttcatcatcaacctctCggtagtagatctcctctttc	8	15	4	14	1	7	1	3	0	4	1	10	1	7	1	2	1	1	2	2	1	3	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:41077127C>T	ENST00000249016.4	+	2	1160	c.464C>T	c.(463-465)tCg>tTg	p.S155L	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Splice_Site_p.S155_splice	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	155					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						ATCAACCTCTCGGTAGTAGAT	0.557													33	67					0	0	0	0	T	41077127	C	T	41077127	3	4	159	1	0	0	0	0	1	0	0	0	9451	893	31	1	470	1	MCHR1	22	41077127	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1900194	41077127	10227439	481	28996											
A4GALT	53947	broad.mit.edu	37	chr22	43089285	43089285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccatgaactcgtgccggcGctcgaaggccaggaacgcgc	8	4	14	15	7	0	1	0	1	0	0	2	3	0	2	3	3	3	1	3	3	3	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:43089285G>A	ENST00000401850.1	-	2	1162	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	A4GALT_ENST00000249005.2_Missense_Mutation_p.R225C|A4GALT_ENST00000381278.3_Missense_Mutation_p.R225C			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	225					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						TCGTGCCGGCGCTCGAAGGCC	0.637													16	38					0	0	0	0	A	43089285	G	A	43089285	3	1	159	1	0	0	0	0	1	0	0	0	6	1087	38	1	392	1	A4GALT	22	43089285	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	2012158	43089285	8215281	482	28997											
TLR8	51311	broad.mit.edu	37	chrX	12938837	12938837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccgacttggaagttctaGatctcagctataattcacac	11	13	7	10	1	3	1	2	0	2	1	5	3	4	2	1	1	1	2	1	1	4	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:12938837G>A	ENST00000218032.6	+	2	1765	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	TLR8_ENST00000311912.5_Missense_Mutation_p.D578N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	560					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGAAGTTCTAGATCTCAGCTA	0.333													19	40					0	0	0	0	A	12938837	G	A	12938837	3	1	159	1	0	0	0	0	1	0	0	0	16051	942	33	2	1684	2	TLR8	23	12938837	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08		12938837	142331723	483	28998											
FAM9C	171484	broad.mit.edu	37	chrX	13061274	13061274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcatctgtttcagcaaaaGatcctctttccccatgctca	9	14	5	13	0	5	1	3	0	2	1	7	1	7	1	3	0	2	4	3	0	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:13061274G>C	ENST00000542843.1	-	3	365	c.155C>G	c.(154-156)tCt>tGt	p.S52C	FAM9C_ENST00000333995.3_Missense_Mutation_p.S52C|FAM9C_ENST00000380625.3_Missense_Mutation_p.S52C			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	52						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TTCAGCAAAAGATCCTCTTTC	0.423													43	166					0	0	0	0	C	13061274	G	C	13061274	3	2	159	1	0	0	0	0	1	0	0	0	5706	942	33	2	365	2	FAM9C	23	13061274	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	122437	13061274	142209286	484	28999											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29301228	29301228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttctggtcctggagactttGaagagccaatagcctttgac	9	12	11	9	0	1	4	0	2	1	2	2	5	2	4	3	2	2	1	3	2	3	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:29301228G>C	ENST00000378993.1	+	3	929	c.256G>C	c.(256-258)Gaa>Caa	p.E86Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E86Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	86	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGGAGACTTTGAAGAGCCAAT	0.448													22	75					0	0	0	0	C	29301228	G	C	29301228	3	2	159	1	0	0	0	0	1	0	0	0	7714	1291	45	2	262	2	IL1RAPL1	23	29301228	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	16239954	29301228	125969332	485	29000											
FAM47A	158724	broad.mit.edu	37	chrX	34149229	34149229	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcagtcttgggaggctcCgggctgagatgggacactcc	7	9	14	11	1	2	1	1	1	1	1	4	4	4	3	2	4	0	2	2	4	0	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:34149229C>T	ENST00000346193.3	-	1	1218	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	389										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGAGGCTCCGGGCTGAGAT	0.622													26	99					0	0	0	0	T	34149229	C	T	34149229	2	4	159	1	0	0	0	0	0	0	0	1	5616	639	23	1		1	FAM47A	23	34149229	Silent	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	4848001	34149229	121121331	486	29001											
FAM47A	158724	broad.mit.edu	37	chrX	34149282	34149282	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgcgtggagactggaccCccgacgagtcttgggaggcg	6	6	16	13	5	1	1	0	0	1	1	2	6	2	3	3	4	0	0	3	4	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:34149282C>A	ENST00000346193.3	-	1	1165	c.1114G>T	c.(1114-1116)Ggg>Tgg	p.G372W		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	372								p.G372W(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGACTGGACCCCCGACGAGTC	0.632													30	90					1.99505e-19	2.15985e-19	1	0	A	34149282	C	A	34149282	3	1	159	1	0	0	0	0	1	0	0	0	5616	623	22	4	1265	4	FAM47A	23	34149282	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	53	34149282	121121278	487	29002											
TMEM47	83604	broad.mit.edu	37	chrX	34657458	34657458	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaggaatgcaatgagaatGatggcagcgccgcccaggag	13	4	14	10	2	0	2	0	2	0	1	0	5	0	4	3	3	2	2	3	3	3	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:34657458G>C	ENST00000275954.3	-	2	531	c.273C>G	c.(271-273)atC>atG	p.I91M		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	91						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAATGAGAATGATGGCAGCGC	0.448													5	14					0	0	0	0	C	34657458	G	C	34657458	3	2	159	1	0	0	0	0	1	0	0	0	16265	1280	45	2	280	2	TMEM47	23	34657458	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	508176	34657458	120613102	488	29003											
CXorf22	170063	broad.mit.edu	37	chrX	35974238	35974238	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatgcgaattacttcctgtGacgtaccactttaaaaaaac	15	11	5	10	2	0	1	0	1	0	0	1	2	1	1	2	0	4	1	2	0	8	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:35974238G>C	ENST00000297866.5	+	8	1401	c.1335G>C	c.(1333-1335)gtG>gtC	p.V445V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	445										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TACTTCCTGTGACGTACCACT	0.353													23	54					0	0	0	0	C	35974238	G	C	35974238	2	2	159	1	0	0	0	0	0	0	0	1	4134	1277	45	2		2	CXorf22	23	35974238	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1316780	35974238	119296322	489	29004											
ZNF630	57232	broad.mit.edu	37	chrX	47917923	47917923	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaaagtatacatgctggcaGaatgccttcccacagtcact	12	10	8	11	0	1	1	1	0	0	1	2	1	2	1	2	1	3	4	2	1	5	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:47917923G>A	ENST00000276054.4	-	5	2470	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	ZNF630_ENST00000409324.3_Silent_p.F636F|ZNF630_ENST00000442455.3_Silent_p.F622F|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CATGCTGGCAGAATGCCTTCC	0.443													15	42					0	0	0	0	A	47917923	G	A	47917923	2	1	159	1	0	0	0	0	0	0	0	1	18149	933	33	2		2	ZNF630	23	47917923	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	11943685	47917923	107352637	490	29005											
SLC38A5	92745	broad.mit.edu	37	chrX	48320414	48320414	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgagtcaactgtgaacatCtgggcctcacagctgctgtt	8	12	11	10	0	3	2	2	2	1	0	3	2	3	2	1	1	4	3	1	1	2	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:48320414C>G	ENST00000376876.3	-	10	1593	c.750G>C	c.(748-750)caG>caC	p.Q250H	SLC38A5_ENST00000376875.1_Missense_Mutation_p.Q199H|SLC38A5_ENST00000317669.5_Missense_Mutation_p.Q250H			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	250					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CTGTGAACATCTGGGCCTCAC	0.532													6	35					0	0	0	0	G	48320414	C	G	48320414	3	3	159	1	0	0	0	0	1	0	0	0	14695	912	32	2	696	2	SLC38A5	23	48320414	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	402491	48320414	106950146	491	29006											
EBP	10682	broad.mit.edu	37	chrX	48382451	48382451	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagaccaagccttcttaTctcaactctgtgagtcctga	9	13	8	11	0	3	3	1	2	3	1	5	4	4	3	3	1	2	0	3	1	3	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:48382451T>A	ENST00000495186.1	+	2	1115	c.292T>A	c.(292-294)Tct>Act	p.S98T	EBP_ENST00000276096.6_3'UTR	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	98					cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11						AGCCTTCTTATCTCAACTCTG	0.498													17	25					0	0	0	0	A	48382451	T	A	48382451	3	1	159	1	0	0	0	0	1	0	0	0	4922	1435	50	5	294	5	EBP	23	48382451	Missense_Mutation	SNP	T	TCGA-CQ-7071-01A-12D-A30E-08	62037	48382451	106888109	492	29007											
HDAC6	10013	broad.mit.edu	37	chrX	48661586	48661586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactggcttggtgttggatGagcagttaaatgaattccat	10	13	12	6	0	0	2	0	2	0	0	1	3	1	3	1	3	1	5	1	3	3	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:48661586G>A	ENST00000334136.5	+	4	452	c.274G>A	c.(274-276)Gag>Aag	p.E92K	HDAC6_ENST00000413163.2_Missense_Mutation_p.E37K|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000376619.2_Missense_Mutation_p.E92K|HDAC6_ENST00000444343.2_Missense_Mutation_p.E106K			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	92	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGTGTTGGATGAGCAGTTAAA	0.488													10	18					0	0	0	0	A	48661586	G	A	48661586	3	1	159	1	0	0	0	0	1	0	0	0	7061	1291	45	2	284	2	HDAC6	23	48661586	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	279135	48661586	106608974	493	29008											
DGKK	139189	broad.mit.edu	37	chrX	50131609	50131609	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagattctaagtgttggatgGcagcagcctaggggcaaaag	12	8	14	7	0	1	1	0	0	1	1	1	2	1	2	1	4	2	4	1	4	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:50131609G>A	ENST00000376025.2	-	0	1993							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTGTTGGATGGCAGCAGCCTA	0.498													9	15					0	0	0	0	A	50131609	G	A	50131609	1	1	159	0	1	0	0	0	0	0	0	0	4509	1203	42	4		4	DGKK	23	50131609	RNA	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1470023	50131609	105138951	494	29009											
SHROOM4	57477	broad.mit.edu	37	chrX	50556995	50556995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgcacagggacgtactgGaaggacccaggccggttctc	9	6	14	12	2	1	0	0	0	1	0	2	3	1	3	2	5	3	4	2	5	2	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:50556995G>T	ENST00000376020.2	-	1	49	c.24C>A	c.(22-24)ttC>ttA	p.F8L	SHROOM4_ENST00000289292.7_Missense_Mutation_p.F8L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	8					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGACGTACTGGAAGGACCCAG	0.662													10	27					3.07112e-06	3.13733e-06	1	0	T	50556995	G	T	50556995	3	4	159	1	0	0	0	0	1	0	0	0	14384	1165	41	2	4493	2	SHROOM4	23	50556995	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	425386	50556995	104713565	495	29010											
GPR173	54328	broad.mit.edu	37	chrX	53106005	53106005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctggacctgtgcctggccGatggcatacgctctgccgtc	4	10	13	14	3	1	0	0	0	1	0	2	2	1	1	4	3	4	3	4	3	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:53106005G>A	ENST00000332582.4	+	2	693	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	68						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D68Y(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GTGCCTGGCCGATGGCATACG	0.602													43	66					0	0	0	0	A	53106005	G	A	53106005	3	1	159	1	0	0	0	0	1	0	0	0	6720	1058	37	1	204	1	GPR173	23	53106005	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	2549010	53106005	102164555	496	29011											
KDM5C	8242	broad.mit.edu	37	chrX	53225148	53225148	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggccttagcaagagcctCcttgagagcctggatgttgg	7	9	14	11	1	0	2	0	1	0	2	1	4	1	3	5	3	3	2	5	3	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:53225148C>A	ENST00000452825.3	-	18	3401	c.2869G>T	c.(2869-2871)Gag>Tag	p.E957*	KDM5C_ENST00000375379.3_Nonsense_Mutation_p.E1024*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.E983*|KDM5C_ENST00000375401.3_Nonsense_Mutation_p.E1024*|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.E1023*	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1024					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCAAGAGCCTCCTTGAGAGCC	0.567			"N, F, S"		clear cell renal carcinoma								7	14					0.0293803	0.0295724	1	0	A	53225148	C	A	53225148	4	1	159	1	0	0	0	0	0	1	0	0	8187	864	30	2	1738	2	KDM5C	23	53225148	Nonsense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	119143	53225148	102045412	497	29012											
HUWE1	10075	broad.mit.edu	37	chrX	53572036	53572036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggtctgtggctgctcctCaggcaggccatcaggagaga	7	8	16	10	0	3	1	2	0	1	1	4	3	4	2	2	6	1	3	2	6	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:53572036C>T	ENST00000342160.3	-	70	11459	c.11002G>A	c.(11002-11004)Gag>Aag	p.E3668K	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.E3668K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3668					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGCTGCTCCTCAGGCAGGCCA	0.597													12	16					0	0	0	0	T	53572036	C	T	53572036	3	4	159	1	0	0	0	0	1	0	0	0	7514	835	29	2	2178	2	HUWE1	23	53572036	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	346888	53572036	101698524	498	29013											
FAM120C	54954	broad.mit.edu	37	chrX	54099642	54099642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctcttccttgatcaatgCgccactgtttccatttacct	6	17	4	14	1	2	1	1	1	1	0	5	1	4	1	4	0	2	1	4	0	2	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:54099642C>T	ENST00000375180.2	-	16	3171	c.3115G>A	c.(3115-3117)Gca>Aca	p.A1039T	FAM120C_ENST00000328235.4_3'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	1039										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TTGATCAATGCGCCACTGTTT	0.458													18	64					0	0	0	0	T	54099642	C	T	54099642	3	4	159	1	0	0	0	0	1	0	0	0	5459	768	27	1	179	1	FAM120C	23	54099642	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	527606	54099642	101170918	499	29014											
HEPH	9843	broad.mit.edu	37	chrX	65486346	65486346	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatgcagatccccataaaGaatgttgagatgctggcctc	11	9	11	10	0	0	3	0	1	0	3	2	4	1	3	3	2	2	4	3	2	3	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:65486346G>C	ENST00000519389.1	+	21	3650	c.3471G>C	c.(3469-3471)aaG>aaC	p.K1157N	HEPH_ENST00000441993.2_Missense_Mutation_p.K1105N|HEPH_ENST00000374727.3_Missense_Mutation_p.K1106N|HEPH_ENST00000419594.1_Missense_Mutation_p.K914N|HEPH_ENST00000336279.5_Missense_Mutation_p.K836N|HEPH_ENST00000343002.2_Missense_Mutation_p.K1103N			Q9BQS7	HEPH_HUMAN	hephaestin	1103					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.K1103N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCCCCATAAAGAATGTTGAGA	0.483													28	48					0	0	0	0	C	65486346	G	C	65486346	3	2	159	1	0	0	0	0	1	0	0	0	7104	933	33	2	3553	2	HEPH	23	65486346	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	11386704	65486346	89784214	500	29015											
AWAT1	158833	broad.mit.edu	37	chrX	69459589	69459589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagttttcctacagggctCatctggtccccaccttcact	6	13	8	14	0	3	0	2	0	1	0	5	1	5	1	4	3	1	2	4	3	1	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:69459589C>T	ENST00000374521.3	+	6	678	c.637C>T	c.(637-639)Cat>Tat	p.H213Y		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	213					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CTACAGGGCTCATCTGGTCCC	0.473													34	83					0	0	0	0	T	69459589	C	T	69459589	3	4	159	1	0	0	0	0	1	0	0	0	1238	826	29	2	659	2	AWAT1	23	69459589	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	3973243	69459589	85810971	501	29016											
ACRC	93953	broad.mit.edu	37	chrX	70824220	70824220	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctgctgtctcccagcatGattcatctgatgatgctggt	6	14	10	11	0	3	3	1	3	2	0	4	3	3	3	1	1	4	4	1	1	0	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:70824220G>C	ENST00000373695.1	+	7	1630	c.1093G>C	c.(1093-1095)Gat>Cat	p.D365H	ACRC_ENST00000373696.3_Missense_Mutation_p.D365H			Q96QF7	ACRC_HUMAN	acidic repeat containing	365						nucleus		p.D365N(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTCCCAGCATGATTCATCTGA	0.483													14	48					0	0	0	0	C	70824220	G	C	70824220	3	2	159	1	0	0	0	0	1	0	0	0	171	1290	45	2	1119	2	ACRC	23	70824220	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	1364631	70824220	84446340	502	29017											
MAGEE1	57692	broad.mit.edu	37	chrX	75650102	75650102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attctaggccaaatattcctGaatggcaaccaagccaagga	15	8	8	10	0	1	1	0	1	1	0	2	2	2	2	4	3	2	1	4	3	7	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:75650102G>A	ENST00000361470.2	+	1	2057	c.1779G>A	c.(1777-1779)ctG>ctA	p.L593L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	593	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AAATATTCCTGAATGGCAACC	0.502													7	32					0	0	0	0	A	75650102	G	A	75650102	2	1	159	1	0	0	0	0	0	0	0	1	9254	1277	45	2		2	MAGEE1	23	75650102	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	4825882	75650102	79620458	503	29018											
TBX22	50945	broad.mit.edu	37	chrX	79286536	79286536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accatcttaaagtgaatgacGacagtcaagtttcttttgga	13	13	8	7	1	3	2	1	2	2	0	3	4	3	3	1	1	0	1	1	1	4	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:79286536G>A	ENST00000442340.1	+	9	1619	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	TBX22_ENST00000373294.5_Missense_Mutation_p.D497N|TBX22_ENST00000373296.3_Missense_Mutation_p.D497N|TBX22_ENST00000373291.1_Missense_Mutation_p.D377N	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	497					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTGAATGACGACAGTCAAGT	0.348													13	50					0	0	0	0	A	79286536	G	A	79286536	3	1	159	1	0	0	0	0	1	0	0	0	15752	1058	37	1	1519	1	TBX22	23	79286536	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	3636434	79286536	75984024	504	29019											
SATL1	340562	broad.mit.edu	37	chrX	84363898	84363898	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatttggttcataccaagtGagtttgtgcttggctggttt	6	17	11	7	0	1	1	1	1	0	0	1	1	1	1	2	3	2	5	2	3	2	6			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:84363898G>C	ENST00000509231.1	-	1	156	c.77C>G	c.(76-78)tCa>tGa	p.S26*	SATL1_ENST00000332921.5_5'UTR|SATL1_ENST00000395409.3_5'UTR			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	81	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CATACCAAGTGAGTTTGTGCT	0.458											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	34					0	0	0	0	C	84363898	G	C	84363898	4	2	159	1	0	0	0	0	0	1	0	0	13941	1294	45	2	1841	2	SATL1	23	84363898	Nonsense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	5077362	84363898	70906662	505	29020											
PCDH19	57526	broad.mit.edu	37	chrX	99662473	99662473	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaggcctgagtcgcgatCagacacccgcaccaaggcga	11	5	12	13	4	1	3	1	2	0	1	2	5	1	3	3	2	0	1	3	2	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:99662473C>A	ENST00000373034.4	-	1	2798	c.1123G>T	c.(1123-1125)Gat>Tat	p.D375Y	PCDH19_ENST00000420881.2_Missense_Mutation_p.D375Y|PCDH19_ENST00000255531.7_Missense_Mutation_p.D375Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	375	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAGTCGCGATCAGACACCCGC	0.587													42	95					6.2361e-21	6.79901e-21	1	0	A	99662473	C	A	99662473	3	1	159	1	0	0	0	0	1	0	0	0	11585	826	29	2	2347	2	PCDH19	23	99662473	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	15298575	99662473	55608087	506	29021											
ARL13A	392509	broad.mit.edu	37	chrX	100240808	100240808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccatgggcttgttttcGtcctggattccagtgacata	7	13	11	10	1	0	1	0	1	0	0	3	2	2	2	3	3	0	2	3	3	1	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:100240808G>A	ENST00000450049.2	+	4	396	c.283G>A	c.(283-285)Gtc>Atc	p.V95I		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	95							GTP binding			endometrium(1)|ovary(1)	2						GCTTGTTTTCGTCCTGGATTC	0.468													14	42					0	0	0	0	A	100240808	G	A	100240808	3	1	159	1	0	0	0	0	1	0	0	0	930	1145	40	1	293	1	ARL13A	23	100240808	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	578335	100240808	55029752	507	29022											
HNRNPH2	3188	broad.mit.edu	37	chrX	100668287	100668287	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggatatgaccaagttctGcaggaaaactccagtgacta	14	9	10	8	0	1	2	0	2	1	0	2	4	2	4	2	2	2	2	2	2	5	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:100668287G>T	ENST00000316594.5	+	2	1389	c.1311G>T	c.(1309-1311)ctG>ctT	p.L437L		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	437					nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						ACCAAGTTCTGCAGGAAAACT	0.458													83	269					7.49063e-41	8.28407e-41	1	0	T	100668287	G	T	100668287	2	4	159	1	0	0	0	0	0	0	0	1	7317	1306	46	4		4	HNRNPH2	23	100668287	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	427479	100668287	54602273	508	29023											
NRK	203447	broad.mit.edu	37	chrX	105075066	105075066	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatccaactggaatattctCactagataaaaccattggcc	14	10	7	10	0	1	1	1	0	1	1	3	3	2	3	3	3	2	0	3	3	6	5			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:105075066C>G	ENST00000428173.2	+	2	380	c.77C>G	c.(76-78)tCa>tGa	p.S26*	NRK_ENST00000243300.9_Nonsense_Mutation_p.S26*|NRK_ENST00000536164.1_Nonsense_Mutation_p.S26*			Q7Z2Y5	NRK_HUMAN	Nik related kinase	26	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAATATTCTCACTAGATAAA	0.274										HNSCC(51;0.14)			16	68					0	0	0	0	G	105075066	C	G	105075066	4	3	159	1	0	0	0	0	0	1	0	0	10726	838	29	2	83	2	NRK	23	105075066	Nonsense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	4406779	105075066	50195494	509	29024											
NRK	203447	broad.mit.edu	37	chrX	105153231	105153231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acccgaacaacaaaggcaggGccaggcccctgaacaacagc	15	1	10	15	1	0	1	0	1	0	0	0	2	0	1	4	3	5	1	4	3	5	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:105153231G>A	ENST00000428173.2	+	13	1904	c.1601G>A	c.(1600-1602)gGc>gAc	p.G534D	NRK_ENST00000243300.9_Missense_Mutation_p.G533D			Q7Z2Y5	NRK_HUMAN	Nik related kinase	533	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAAAGGCAGGGCCAGGCCCCT	0.562										HNSCC(51;0.14)			15	32					0	0	0	0	A	105153231	G	A	105153231	3	1	159	1	0	0	0	0	1	0	0	0	10726	1203	42	4	1648	4	NRK	23	105153231	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	78165	105153231	50117329	510	29025											
COL4A6	1288	broad.mit.edu	37	chrX	107433638	107433638	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccttttattcctttgagGcctaggtttccttttggacc	5	18	7	11	0	1	1	1	1	0	0	3	2	3	2	5	3	0	1	5	3	2	8			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:107433638G>A	ENST00000394872.2	-	20	1644	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G	COL4A6_ENST00000538570.1_Silent_p.G470G|COL4A6_ENST00000334504.7_Silent_p.G470G|COL4A6_ENST00000545689.1_Silent_p.G470G|COL4A6_ENST00000372216.4_Silent_p.G471G			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	471	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTCCTTTGAGGCCTAGGTTTC	0.468									Alport syndrome with Diffuse Leiomyomatosis				27	82					0	0	0	0	A	107433638	G	A	107433638	2	1	159	1	0	0	0	0	0	0	0	1	3725	1190	42	4		4	COL4A6	23	107433638	Silent	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	2280407	107433638	47836922	511	29026											
COL4A5	1287	broad.mit.edu	37	chrX	107834330	107834330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggccctcctggatttcctgGagaaaggggtcagaaaggtg	9	9	15	8	0	1	2	1	0	0	2	3	4	3	3	3	6	0	0	3	6	2	1	rs104886099		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:107834330G>A	ENST00000328300.6	+	20	1452	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G403E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	403	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGATTTCCTGGAGAAAGGGGT	0.502									Alport syndrome with Diffuse Leiomyomatosis				22	65					0	0	0	0	A	107834330	G	A	107834330	3	1	159	1	0	0	0	0	1	0	0	0	3724	1174	41	2	1286	2	COL4A5	23	107834330	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	400692	107834330	47436230	512	29027											
CXorf56	63932	broad.mit.edu	37	chrX	118675309	118675309	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagctcttgcagtcgcctCttgctcatgcctttgcgctc	4	13	8	16	2	3	0	1	0	2	0	5	0	3	0	3	0	5	4	3	0	0	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:118675309C>G	ENST00000320339.4	-	6	712	c.441G>C	c.(439-441)aaG>aaC	p.K147N	CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000536133.1_Missense_Mutation_p.K182N|CXorf56_ENST00000371594.4_Missense_Mutation_p.K196N|CXorf56_ENST00000476164.1_Missense_Mutation_p.K196N|CXorf56_ENST00000486230.1_Missense_Mutation_p.K196N	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	196							protein binding			cervix(1)|endometrium(2)|lung(7)	10						GCAGTCGCCTCTTGCTCATGC	0.493													30	104					0	0	0	0	G	118675309	C	G	118675309	3	3	159	1	0	0	0	0	1	0	0	0	4144	912	32	2	88	2	CXorf56	23	118675309	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	10840979	118675309	36595251	513	29028											
UTP14A	10813	broad.mit.edu	37	chrX	129059037	129059037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttagaagggcagcagtcaGagaggaccccaaataatcgc	14	6	12	9	1	1	2	1	0	0	2	2	4	1	3	2	2	1	3	2	2	4	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:129059037G>A	ENST00000394422.3	+	12	1643	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	UTP14A_ENST00000371042.3_Missense_Mutation_p.E371K|UTP14A_ENST00000371051.5_Missense_Mutation_p.E485K|UTP14A_ENST00000425117.2_Missense_Mutation_p.E487K|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	539					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GCAGCAGTCAGAGAGGACCCC	0.478													48	158					0	0	0	0	A	129059037	G	A	129059037	3	1	159	1	0	0	0	0	1	0	0	0	17191	943	33	2	1661	2	UTP14A	23	129059037	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	10383728	129059037	26211523	514	29029											
ENOX2	10495	broad.mit.edu	37	chrX	129822945	129822945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcccaaaccaggcatcattgGagttattggtggaattccag	11	11	10	9	0	1	0	1	0	0	0	3	2	3	2	3	4	1	2	3	4	3	4			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:129822945G>A	ENST00000338144.3	-	6	649	c.232C>T	c.(232-234)Cca>Tca	p.P78S	ENOX2_ENST00000394363.1_Missense_Mutation_p.P49S|ENOX2_ENST00000370935.1_Missense_Mutation_p.P49S|ENOX2_ENST00000370927.1_Missense_Mutation_p.P78S|ENOX2_ENST00000492263.1_5'UTR	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	78	Pro-rich.				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GGCATCATTGGAGTTATTGGT	0.428													34	75					0	0	0	0	A	129822945	G	A	129822945	3	1	159	1	0	0	0	0	1	0	0	0	5165	1174	41	2	1644	2	ENOX2	23	129822945	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	763908	129822945	25447615	515	29030											
GPC3	2719	broad.mit.edu	37	chrX	132887678	132887678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acttgtcaatctccaccacaCctgccatacagccttgcatg	10	10	5	16	0	2	0	1	0	1	0	3	0	2	0	5	0	4	1	5	0	2	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:132887678C>A	ENST00000370818.3	-	3	1308	c.863G>T	c.(862-864)gGt>gTt	p.G288V	GPC3_ENST00000543339.1_Missense_Mutation_p.G234V|GPC3_ENST00000394299.2_Missense_Mutation_p.G288V	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	288						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CTCCACCACACCTGCCATACA	0.468			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				9	171					1.76689e-08	1.83852e-08	1	0	A	132887678	C	A	132887678	3	1	159	1	0	0	0	0	1	0	0	0	6648	507	18	4	976	4	GPC3	23	132887678	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	3064733	132887678	22382882	516	29031											
ZNF449	203523	broad.mit.edu	37	chrX	134494649	134494649	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggcaccagagaacccattCtgaagaagaaacatataaat	19	6	8	8	0	1	4	0	1	1	3	1	5	1	4	2	1	2	1	2	1	7	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:134494649C>G	ENST00000339249.4	+	5	1345	c.1205C>G	c.(1204-1206)tCt>tGt	p.S402C		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	402					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAACCCATTCTGAAGAAGAA	0.408													39	130					0	0	0	0	G	134494649	C	G	134494649	3	3	159	1	0	0	0	0	1	0	0	0	18015	913	32	2	1219	2	ZNF449	23	134494649	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	1606971	134494649	20775911	517	29032											
SPANXC	64663	broad.mit.edu	37	chrX	140335792	140335792	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcctgtagcgaaccactAgtatggtcgaggactcagat	10	10	10	11	2	1	1	1	0	0	1	4	4	3	2	3	2	2	2	3	2	4	3			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:140335792A>T	ENST00000358993.2	-	2	190	c.152T>A	c.(151-153)cTa>cAa	p.L51Q		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	51						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					GCGAACCACTAGTATGGTCGA	0.507													17	120					0	0	0	0	T	140335792	A	T	140335792	3	4	159	1	0	0	0	0	1	0	0	0	15077	420	15	5	145	5	SPANXC	23	140335792	Missense_Mutation	SNP	A	TCGA-CQ-7071-01A-12D-A30E-08	5841143	140335792	14934768	518	29033											
CXorf40A	91966	broad.mit.edu	37	chrX	148627327	148627327	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcacagggactgggaaggcGatgcctggcgggagctgctg	7	6	18	10	2	1	0	1	0	0	0	1	4	1	3	1	5	3	2	1	5	1	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:148627327G>A	ENST00000428236.1	+	0	214				CXorf40A_ENST00000423540.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000359293.5_Missense_Mutation_p.D51N|CXorf40A_ENST00000514208.1_Missense_Mutation_p.D51N|CXorf40A_ENST00000422892.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000434353.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000393985.3_Missense_Mutation_p.D51N|CXorf40A_ENST00000423421.1_Missense_Mutation_p.D51N|CXorf40A_ENST00000450602.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000441248.1_Missense_Mutation_p.D51N			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A								protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGGGAAGGCGATGCCTGGCG	0.582													33	84					0	0	0	0	A	148627327	G	A	148627327	1	1	159	1	0	0	0	0	0	0	0	0	4140	1058	37	1		1	CXorf40A	23	148627327	Translation_Start_Site	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	8291535	148627327	6643233	519	29034											
PLXNB3	5365	broad.mit.edu	37	chrX	153032532	153032532	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcagccccgagctgcagctcGaggccgtggctgtcactggc	5	7	14	15	3	2	0	2	0	0	0	3	2	2	0	3	3	4	4	3	3	0	0			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:153032532G>C	ENST00000538966.1	+	4	590	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.E84Q	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	84	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCAGCTCGAGGCCGTGGC	0.627													14	28					0	0	0	0	C	153032532	G	C	153032532	3	2	159	1	0	0	0	0	1	0	0	0	12197	1059	37	3	374	3	PLXNB3	23	153032532	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	4405205	153032532	2238028	520	29035											
L1CAM	3897	broad.mit.edu	37	chrX	153135906	153135906	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggccaccaggtggctgctgGagttggtggggaagagcagg	8	6	20	7	0	0	1	0	0	0	1	0	3	0	3	2	8	2	4	2	8	1	1			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:153135906G>C	ENST00000370060.1	-	8	932	c.743C>G	c.(742-744)tCc>tGc	p.S248C	L1CAM_ENST00000361699.4_Missense_Mutation_p.S248C|L1CAM_ENST00000538883.1_Missense_Mutation_p.S250C|L1CAM_ENST00000361981.3_Missense_Mutation_p.S243C|L1CAM_ENST00000370055.1_Missense_Mutation_p.S243C|L1CAM_ENST00000370057.3_Missense_Mutation_p.S248C|L1CAM_ENST00000543994.1_Missense_Mutation_p.S250C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	248	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCTGCTGGAGTTGGTGGG	0.652													17	47					0	0	0	0	C	153135906	G	C	153135906	3	2	159	1	0	0	0	0	1	0	0	0	8641	1174	41	2	3118	2	L1CAM	23	153135906	Missense_Mutation	SNP	G	TCGA-CQ-7071-01A-12D-A30E-08	103374	153135906	2134654	521	29036											
FLNA	2316	broad.mit.edu	37	chrX	153587740	153587740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggcctcggaggggccctCtacagccaggcccaggccgc	5	5	14	17	2	1	0	0	0	1	0	2	1	1	1	5	6	2	0	5	6	1	2			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:153587740C>G	ENST00000422373.1	-	25	4425	c.4177G>C	c.(4177-4179)Gag>Cag	p.E1393Q	FLNA_ENST00000369850.3_Missense_Mutation_p.E1393Q|FLNA_ENST00000360319.4_Missense_Mutation_p.E1393Q|FLNA_ENST00000344736.4_Missense_Mutation_p.E1393Q	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1393					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGGGGCCCTCTACAGCCAGG	0.647													82	187					0	0	0	0	G	153587740	C	G	153587740	3	3	159	1	0	0	0	0	1	0	0	0	5978	922	32	2	3862	2	FLNA	23	153587740	Missense_Mutation	SNP	C	TCGA-CQ-7071-01A-12D-A30E-08	451834	153587740	1682820	522	29037											
UBL4A	8266	broad.mit.edu	37	chrX	153714159	153714160	+	Frame_Shift_Ins	INS	-	-	G																															atctgccgcactgaagtggcINSgggccaagactttggagatc																								rs150392222		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:153714159_153714160insG	ENST00000369660.4	-	3	398_399	c.313_314insC	c.(313-315)ccafs	p.P105fs	UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Frame_Shift_Ins_p.P105fs	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	105					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTGAAGTGGCGGGCCAAGACT	0.629													8	262	---	---	---	---					G	153714160	-	G	153714159	7	5	159	1	0	1	1	0	0	0	0	0	16983	768	27	0	167	0	UBL4A	23	153714159	Frame_Shift_Ins	INS	-	TCGA-CQ-7071-01A-12D-A30E-08	126419	153714159	1556401	523	29038											
PTP4A2	8073	broad.mit.edu	37	chr1	32381528	32381528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttctttttcaactggagCtttatcatatgtagcatcac	9	17	5	10	0	4	0	3	0	1	0	5	1	5	1	1	1	3	3	1	1	4	7			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:32381528C>T	ENST00000344035.6	-	3	1150	c.157G>A	c.(157-159)Gct>Act	p.A53T	RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000602725.1_Missense_Mutation_p.A53T|PTP4A2_ENST00000457805.2_Intron|PTP4A2_ENST00000356536.3_Missense_Mutation_p.A53T|PTP4A2_ENST00000470404.1_Missense_Mutation_p.A53T	NM_080391.3	NP_536316.1	Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	53				A -> D (in Ref. 9; AAB59575).		early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				TCAACTGGAGCTTTATCATAT	0.279													3	38					0	0	0	0	T	32381528	C	T	32381528	3	4	160	1	0	0	0	0	1	0	0	0	12851	797	28	4	362	4	PTP4A2	1	32381528	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08		32381528	216869093	1	29039											
KHDRBS1	10657	broad.mit.edu	37	chr1	32503572	32503572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctccagcaccaagagcaCggacagcgggcatccagagg	11	3	14	13	2	0	2	0	0	0	2	2	3	2	3	3	3	4	4	3	3	1	0			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:32503572C>T	ENST00000327300.7	+	6	1209	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Missense_Mutation_p.R309W	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	348	Pro-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCAAGAGCACGGACAGCGGG	0.542													19	106					0	0	0	0	T	32503572	C	T	32503572	3	4	160	1	0	0	0	0	1	0	0	0	8197	527	19	1	1064	1	KHDRBS1	1	32503572	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	122044	32503572	216747049	2	29040											
ABCA4	24	broad.mit.edu	37	chr1	94463633	94463633	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcgtccttcggggatttGatcttcattgtgacgatata	8	15	11	7	3	2	2	1	2	1	0	5	4	3	3	1	3	0	0	1	3	2	6			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:94463633G>T	ENST00000370225.3	-	48	6599	c.6513C>A	c.(6511-6513)atC>atA	p.I2171I	ABCA4_ENST00000536513.1_Silent_p.I441I|ABCA4_ENST00000535881.1_Silent_p.I290I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2171					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCGGGGATTTGATCTTCATTG	0.517													21	43					9.95505e-16	1.19881e-15	1	0	T	94463633	G	T	94463633	2	4	160	1	0	0	0	0	0	0	0	1	34	1280	45	2		2	ABCA4	1	94463633	Silent	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	61960061	94463633	154786988	3	29041											
TMEM56	148534	broad.mit.edu	37	chr1	95657222	95657222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcaatgcttcctcattatgGcttcatgtattccgtgtatg	7	17	7	10	1	3	0	3	0	0	0	5	0	5	0	2	1	1	4	2	1	4	6			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:95657222G>T	ENST00000370203.4	+	7	881	c.590G>T	c.(589-591)gGc>gTc	p.G197V	RP11-57H12.6_ENST00000604534.1_Intron|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.3_ENST00000419846.1_RNA	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	197	TLC.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CCTCATTATGGCTTCATGTAT	0.393													37	72					9.62906e-15	1.15145e-14	1	0	T	95657222	G	T	95657222	3	4	160	1	0	0	0	0	1	0	0	0	16277	1203	42	4	612	4	TMEM56	1	95657222	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	1193589	95657222	153593399	4	29042											
CGN	57530	broad.mit.edu	37	chr1	151491621	151491621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgctaccccctgaacagcGcaaacggagcaagagcctgg	12	4	12	13	2	0	2	0	1	0	1	0	4	0	3	3	2	7	3	3	2	4	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:151491621G>A	ENST00000271636.7	+	2	759	c.626G>A	c.(625-627)cGc>cAc	p.R209H		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	203	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGAACAGCGCAAACGGAGC	0.592													5	302					0	0	0	0	A	151491621	G	A	151491621	3	1	160	1	0	0	0	0	1	0	0	0	3332	1087	38	1	628	1	CGN	1	151491621	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	55834399	151491621	97759000	5	29043											
LMX1A	4009	broad.mit.edu	37	chr1	165218665	165218665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtctgaggctgctgggCtcaccaggctgagcagctcc	6	8	14	13	0	2	3	1	3	1	0	3	3	3	3	2	3	3	6	2	3	0	0			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:165218665C>T	ENST00000342310.3	-	4	858	c.476G>A	c.(475-477)aGc>aAc	p.S159N	LMX1A_ENST00000367893.4_Missense_Mutation_p.S159N|LMX1A_ENST00000294816.2_Missense_Mutation_p.S159N	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	159						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GGCTGCTGGGCTCACCAGGCT	0.602													7	70					0	0	0	0	T	165218665	C	T	165218665	3	4	160	1	0	0	0	0	1	0	0	0	8916	797	28	4	696	4	LMX1A	1	165218665	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	13727044	165218665	84031956	6	29044											
F5	2153	broad.mit.edu	37	chr1	169526091	169526091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgatgtggtcatgggCacaaactgttatatctgaga	11	11	11	8	0	2	2	1	2	1	1	2	3	2	2	1	2	2	3	1	2	3	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:169526091C>A	ENST00000367796.3	-	6	946	c.745G>T	c.(745-747)Gcc>Tcc	p.A249S	F5_ENST00000546081.1_Missense_Mutation_p.A112S|F5_ENST00000367797.3_Missense_Mutation_p.A249S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	249	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGGTCATGGGCACAAACTGTT	0.463													14	23					1.5842e-08	1.74773e-08	1	0	A	169526091	C	A	169526091	3	1	160	1	0	0	0	0	1	0	0	0	5386	710	25	4	6009	4	F5	1	169526091	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	4307426	169526091	79724530	7	29045											
PIGR	5284	broad.mit.edu	37	chr1	207104874	207104874	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggttctttggtctctgTggtgctctcagtggtggcaa	3	16	14	8	0	3	0	1	0	3	0	5	0	3	0	0	5	1	3	0	5	1	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:207104874T>C	ENST00000356495.4	-	10	2350	c.2167A>G	c.(2167-2169)Aca>Gca	p.T723A	PIGR_ENST00000487208.1_5'UTR	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	723						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTGGTCTCTGTGGTGCTCTCA	0.483													21	103					0	0	0	0	C	207104874	T	C	207104874	3	2	160	1	0	0	0	0	1	0	0	0	11969	1696	59	5	135	5	PIGR	1	207104874	Missense_Mutation	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	37578783	207104874	42145747	8	29046											
CR1L	1379	broad.mit.edu	37	chr1	207891009	207891009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtttggagcagccctgccCctcgctgtgaacttcctgtt	4	12	12	13	1	0	1	0	1	0	0	2	2	1	2	4	2	4	4	4	2	1	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:207891009C>T	ENST00000508064.2	+	11	1675	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	539	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGCCCTGCCCCTCGCTGTGA	0.522													35	92					0	0	0	0	T	207891009	C	T	207891009	3	4	160	1	0	0	0	0	1	0	0	0	3871	623	22	4	1657	4	CR1L	1	207891009	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	786135	207891009	41359612	9	29047											
PSEN2	5664	broad.mit.edu	37	chr1	227071565	227071565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcactctgtgcatgatcGtggtggtagccaccatcaag	8	11	11	11	1	3	1	2	1	1	0	4	1	3	1	2	2	2	2	2	2	2	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:227071565G>A	ENST00000366782.1	+	5	900	c.400G>A	c.(400-402)Gtg>Atg	p.V134M	PSEN2_ENST00000340188.4_Missense_Mutation_p.V101M|PSEN2_ENST00000366783.3_Missense_Mutation_p.V101M|PSEN2_ENST00000391872.2_Missense_Mutation_p.V134M|PSEN2_ENST00000422240.2_Missense_Mutation_p.V101M			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	101					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GTGCATGATCGTGGTGGTAGC	0.602													40	105					0	0	0	0	A	227071565	G	A	227071565	3	1	160	1	0	0	0	0	1	0	0	0	12730	1145	40	1	307	1	PSEN2	1	227071565	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	19180556	227071565	22179056	10	29048											
NTSR2	23620	broad.mit.edu	37	chr2	11802117	11802117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctggacgctgcgctggaGgctgcggatccggcgcacgt	6	6	16	13	6	0	0	0	0	0	0	1	3	1	3	2	5	3	4	2	5	1	0			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:11802117G>A	ENST00000306928.5	-	2	908	c.874C>T	c.(874-876)Ctc>Ttc	p.L292F		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	292					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CTGCGCTGGAGGCTGCGGATC	0.582													43	109					0	0	0	0	A	11802117	G	A	11802117	3	1	160	1	0	0	0	0	1	0	0	0	10782	1000	35	4	370	4	NTSR2	2	11802117	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08		11802117	231397256	11	29049											
NRBP1	29959	broad.mit.edu	37	chr2	27657998	27657998	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacagcccagtgcccccacAgctacctgcactcctgtgac	9	7	7	18	0	0	1	0	1	0	0	1	1	1	1	5	0	6	2	5	0	2	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:27657998A>T	ENST00000233557.3	+	8	1398		c.e8-1		NRBP1_ENST00000379863.3_Splice_Site|NRBP1_ENST00000379852.3_Splice_Site			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1						ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GTGCCCCCACAGCTACCTGCA	0.577													13	62					0	0	0	0	T	27657998	A	T	27657998	5	4	160	1	0	0	0	0	0	0	1	0	10713	202	7	5	587	5	NRBP1	2	27657998	Splice_Site	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08	15855881	27657998	215541375	12	29050											
USP34	9736	broad.mit.edu	37	chr2	61415591	61415597	+	Frame_Shift_Del	DEL	ATTTGAC	ATTTGAC	-																															tctgcatgctgtgacctgatAtttgacatgtcttctgaaaa																										TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:61415591_61415597delATTTGAC	ENST00000398571.2	-	80	10357_10363	c.10281_10287delGTCAAAT	c.(10279-10287)atfs	p.MSN3427fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3427					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTGACCTGATATTTGACATGTCTTCTG	0.396													23	89	---	---	---	---					-	61415597	ATTTGAC	-	61415591	7	5	160	1	0	1	0	1	0	0	0	0	17161	446	16	0	357	0	USP34	2	61415591	Frame_Shift_Del	DEL	ATTTGAC	TCGA-CQ-7072-01A-21D-A30E-08	33757593	61415591	181783782	13	29051											
PLEK	5341	broad.mit.edu	37	chr2	68607936	68607936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagagagatgcctgggttCgggatatcaagaaggccatt	12	8	15	6	1	1	3	1	0	0	3	2	6	1	4	2	4	1	1	2	4	3	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:68607936C>T	ENST00000234313.7	+	3	459	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	94	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TGCCTGGGTTCGGGATATCAA	0.468													23	163					0	0	0	0	T	68607936	C	T	68607936	3	4	160	1	0	0	0	0	1	0	0	0	12125	875	31	1	290	1	PLEK	2	68607936	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	7192345	68607936	174591437	14	29052											
POLR1A	25885	broad.mit.edu	37	chr2	86327274	86327274	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaggtatcgagggttcgtAatggatttaacacttaattt	11	15	9	6	2	0	0	0	0	0	0	3	2	1	1	1	3	1	3	1	3	4	7			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:86327274A>C	ENST00000263857.6	-	2	477	c.99T>G	c.(97-99)atT>atG	p.I33M	POLR1A_ENST00000409681.1_Missense_Mutation_p.I33M			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	33					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGGGTTCGTAATGGATTTAA	0.468													8	52					0	0	0	0	C	86327274	A	C	86327274	3	2	160	1	0	0	0	0	1	0	0	0	12281	358	13	5	5195	5	POLR1A	2	86327274	Missense_Mutation	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08	17719338	86327274	156872099	15	29053											
ACOXL	55289	broad.mit.edu	37	chr2	111850481	111850481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagctggtgtttcaggagCgggcctggtatttagaacat	9	11	13	8	1	1	1	1	0	0	1	1	2	1	2	2	4	3	3	2	4	4	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:111850481C>T	ENST00000389811.4	+	18	1794	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	ACOXL_ENST00000439055.1_Missense_Mutation_p.R494W			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	524					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GTTTCAGGAGCGGGCCTGGTA	0.423													27	69					0	0	0	0	T	111850481	C	T	111850481	3	4	160	1	0	0	0	0	1	0	0	0	161	759	27	1	1542	1	ACOXL	2	111850481	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	25523207	111850481	131348892	16	29054											
FBLN7	129804	broad.mit.edu	37	chr2	112942821	112942821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagccggtgtgcccccagggGaccacatgcatcaacaccgg	9	4	12	16	2	1	0	1	0	0	0	1	1	1	1	5	4	4	1	5	4	1	0			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:112942821G>A	ENST00000331203.2	+	7	1123	c.852G>A	c.(850-852)ggG>ggA	p.G284G	FBLN7_ENST00000409667.3_Silent_p.G150G|FBLN7_ENST00000409903.1_Silent_p.G284G|FBLN7_ENST00000409450.3_Silent_p.G238G	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	284	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCCCCCAGGGGACCACATGCA	0.577													28	93					0	0	0	0	A	112942821	G	A	112942821	2	1	160	1	0	0	0	0	0	0	0	1	5746	1161	41	2		2	FBLN7	2	112942821	Silent	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	1092340	112942821	130256552	17	29055											
CNTNAP5	129684	broad.mit.edu	37	chr2	125367399	125367399	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctacgagcaatcctgcgAggtgtacaggcaccagggga	11	6	13	11	2	1	0	0	0	1	0	2	3	2	1	2	4	4	3	2	4	3	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:125367399A>T	ENST00000431078.1	+	12	2139	c.1775A>T	c.(1774-1776)gAg>gTg	p.E592V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	592	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAATCCTGCGAGGTGTACAGG	0.512													39	77					0	0	0	0	T	125367399	A	T	125367399	3	4	160	1	0	0	0	0	1	0	0	0	3680	304	11	5	1821	5	CNTNAP5	2	125367399	Missense_Mutation	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08	12424578	125367399	117831974	18	29056											
KIF5C	3800	broad.mit.edu	37	chr2	149847618	149847618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaagtccctggtgaaccGcagcaaacagctcgagagcg	11	5	13	12	3	1	2	1	1	0	1	3	3	2	2	2	2	5	3	2	2	3	0			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:149847618G>A	ENST00000435030.1	+	16	2179	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.R509H|KIF5C_ENST00000397413.1_Missense_Mutation_p.R372H			O60282	KIF5C_HUMAN	kinesin family member 5C	604					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTGGTGAACCGCAGCAAACAG	0.577													7	23					0	0	0	0	A	149847618	G	A	149847618	3	1	160	1	0	0	0	0	1	0	0	0	8358	1087	38	1	1795	1	KIF5C	2	149847618	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	24480219	149847618	93351755	19	29057											
HOXD8	3234	broad.mit.edu	37	chr2	176995356	176995356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgcggcggtagggaaGgccggggccaggagtacttc	6	6	20	9	3	0	0	0	0	0	0	1	2	0	2	2	8	2	2	2	8	3	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:176995356G>A	ENST00000313173.4	+	1	889	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	HOXD8_ENST00000544999.1_Missense_Mutation_p.G88S|HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000548663.1_Intron|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000450510.2_Missense_Mutation_p.G88S	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	88					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CGGTAGGGAAGGCCGGGGCCA	0.801													13	30					0	0	0	0	A	176995356	G	A	176995356	3	1	160	1	0	0	0	0	1	0	0	0	7375	1000	35	4	264	4	HOXD8	2	176995356	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	27147738	176995356	66204017	20	29058											
CCDC150	284992	broad.mit.edu	37	chr2	197583259	197583259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgaaagaagtaaagaggaGctgtcccgaacagtgaagtg	15	7	13	6	1	0	4	0	2	0	2	1	6	1	5	1	1	2	2	1	1	6	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:197583259G>T	ENST00000389175.4	+	18	2034	c.1899G>T	c.(1897-1899)gaG>gaT	p.E633D	CCDC150_ENST00000272831.7_Missense_Mutation_p.E280D|CCDC150_ENST00000409270.1_Missense_Mutation_p.E120D	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	633										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTAAAGAGGAGCTGTCCCGAA	0.383													15	19					0.000219431	0.000227411	1	0	T	197583259	G	T	197583259	3	4	160	1	0	0	0	0	1	0	0	0	2810	962	34	4	1969	4	CCDC150	2	197583259	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	20587903	197583259	45616114	21	29059											
ABCA12	26154	broad.mit.edu	37	chr2	215838749	215838749	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccatttttccagactgTctttgtttaaacactgtctg	7	19	6	9	0	2	1	0	0	2	1	4	1	4	1	2	0	1	2	2	0	2	6			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:215838749T>C	ENST00000272895.7	-	36	5705	c.5486A>G	c.(5485-5487)gAc>gGc	p.D1829G	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1511G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1829					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCCAGACTGTCTTTGTTTAA	0.373													7	35					0	0	0	0	C	215838749	T	C	215838749	3	2	160	1	0	0	0	0	1	0	0	0	30	1667	58	5	2373	5	ABCA12	2	215838749	Missense_Mutation	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	18255490	215838749	27360624	22	29060											
SLC4A7	9497	broad.mit.edu	37	chr3	27442319	27442319	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatctttcttccattgtgctAgagtttcattgctggggttt	5	20	9	7	0	3	1	1	0	2	1	4	1	4	1	1	2	2	4	1	2	2	8			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:27442319A>G	ENST00000295736.5	-	16	2406	c.2336T>C	c.(2335-2337)cTa>cCa	p.L779P	SLC4A7_ENST00000455077.1_Missense_Mutation_p.L660P|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L771P|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L655P|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L329P|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L775P|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L664P|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L660P|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L788P|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L775P	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	779						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CCATTGTGCTAGAGTTTCATT	0.328													18	39					0	0	0	0	G	27442319	A	G	27442319	3	3	160	1	0	0	0	0	1	0	0	0	14746	420	15	5	1348	5	SLC4A7	3	27442319	Missense_Mutation	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08		27442319	170580111	23	29061											
USP19	10869	broad.mit.edu	37	chr3	49153322	49153322	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcacctcctggtggggtTgaatccagaggggttggacc	7	8	17	9	0	0	2	0	1	0	1	2	4	2	4	4	7	1	3	4	7	1	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:49153322T>C	ENST00000453664.1	-	11	1809	c.1491A>G	c.(1489-1491)tcA>tcG	p.S497S	USP19_ENST00000398896.1_Silent_p.S214S|USP19_ENST00000398898.2_Silent_p.S446S|USP19_ENST00000417901.1_Silent_p.S509S|USP19_ENST00000398888.2_Silent_p.S406S|USP19_ENST00000434032.2_Silent_p.S507S|USP19_ENST00000398892.3_Silent_p.S446S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	406					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGTGGGGTTGAATCCAGAG	0.602													20	41					0	0	0	0	C	49153322	T	C	49153322	2	2	160	1	0	0	0	0	0	0	0	1	17146	1799	63	5		5	USP19	3	49153322	Silent	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	21711003	49153322	148869108	24	29062											
PODXL2	50512	broad.mit.edu	37	chr3	127379826	127379826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacagctcccagtggggccGagcacccagatgaagatccc	10	4	11	16	1	0	3	0	1	0	2	2	4	2	3	5	2	2	2	5	2	1	0	rs35388535	byFrequency	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:127379826G>A	ENST00000342480.6	+	3	994	c.955G>A	c.(955-957)Gag>Aag	p.E319K		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	319					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CAGTGGGGCCGAGCACCCAGA	0.602													25	74					0	0	0	0	A	127379826	G	A	127379826	3	1	160	1	0	0	0	0	1	0	0	0	12253	1059	37	1	965	1	PODXL2	3	127379826	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	78226504	127379826	70642604	25	29063											
ABTB1	80325	broad.mit.edu	37	chr3	127398902	127398902	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcctgaagaggctgtgCggccgcagcctggctcagat	7	6	15	13	2	1	3	1	1	0	2	1	3	1	3	4	4	2	3	4	4	1	0			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:127398902C>T	ENST00000468137.1	+	10	1294	c.678C>T	c.(676-678)tgC>tgT	p.C226C	ABTB1_ENST00000453791.2_Silent_p.C226C|ABTB1_ENST00000393363.3_Silent_p.C226C|ABTB1_ENST00000232744.8_Silent_p.C368C			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	368						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						AGAGGCTGTGCGGCCGCAGCC	0.642													5	274					0	0	0	0	T	127398902	C	T	127398902	2	4	160	1	0	0	0	0	0	0	0	1	102	776	27	1		1	ABTB1	3	127398902	Silent	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	19076	127398902	70623528	26	29064											
ESYT3	83850	broad.mit.edu	37	chr3	138183305	138183305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcggcctacagcatttccGgagtaggaccatctacagga	11	8	10	12	2	1	0	0	0	1	0	3	3	2	3	3	4	3	2	3	4	3	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:138183305G>A	ENST00000389567.4	+	9	1220	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	345	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CAGCATTTCCGGAGTAGGACC	0.562													4	79					0	0	0	0	A	138183305	G	A	138183305	3	1	160	1	0	0	0	0	1	0	0	0	5304	1116	39	1	1068	1	ESYT3	3	138183305	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	10784403	138183305	59839125	27	29065											
C3orf58	205428	broad.mit.edu	37	chr3	143708394	143708394	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtatgaaagcaagtttgAtgactgtgataaggaggctt	13	12	13	3	0	0	4	0	4	0	0	0	5	0	5	0	3	1	4	0	3	4	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:143708394A>T	ENST00000315691.3	+	3	1539	c.1004A>T	c.(1003-1005)gAt>gTt	p.D335V	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.D97V|C3orf58_ENST00000495414.1_Missense_Mutation_p.D126V	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	335						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCAAGTTTGATGACTGTGAT	0.348													17	39					0	0	0	0	T	143708394	A	T	143708394	3	4	160	1	0	0	0	0	1	0	0	0	2256	333	12	5	1048	5	C3orf58	3	143708394	Missense_Mutation	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08	5525089	143708394	54314036	28	29066											
ZIC1	7545	broad.mit.edu	37	chr3	147128206	147128206	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgcgggactttctgttcCgcaaccggggttttggcgac	5	10	13	13	5	1	0	0	0	1	0	2	2	2	1	3	4	1	3	3	4	1	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:147128206C>G	ENST00000282928.4	+	1	1036	c.307C>G	c.(307-309)Cgc>Ggc	p.R103G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	103					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTTTCTGTTCCGCAACCGGGG	0.697													17	48					0	0	0	0	G	147128206	C	G	147128206	3	3	160	1	0	0	0	0	1	0	0	0	17773	652	23	3	309	3	ZIC1	3	147128206	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	3419812	147128206	50894224	29	29067											
IGSF10	285313	broad.mit.edu	37	chr3	151165724	151165724	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaataggattggactcaTcaagtccagatccctctgtt	11	11	9	10	0	3	1	2	0	1	1	5	4	5	3	2	2	1	2	2	2	3	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:151165724T>C	ENST00000282466.3	-	4	2044	c.2045A>G	c.(2044-2046)gAt>gGt	p.D682G		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	682					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGGACTCATCAAGTCCAGA	0.468													9	78					0	0	0	0	C	151165724	T	C	151165724	3	2	160	1	0	0	0	0	1	0	0	0	7650	1435	50	5	5886	5	IGSF10	3	151165724	Missense_Mutation	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	4037518	151165724	46856706	30	29068											
SLIT2	9353	broad.mit.edu	37	chr4	20512713	20512713	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcaataatcagatctcTgaacttgcaccagatgcttt	12	12	7	10	0	2	4	1	2	1	2	3	4	2	4	1	0	4	3	1	0	3	3	rs112603988		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr4:20512713T>C	ENST00000504154.1	+	11	1263	c.1011T>C	c.(1009-1011)tcT>tcC	p.S337S	SLIT2_ENST00000273739.5_Silent_p.S341S|SLIT2_ENST00000503823.1_Silent_p.S337S|SLIT2_ENST00000503837.1_Silent_p.S341S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	337					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATCAGATCTCTGAACTTGCAC	0.408													12	28					0	0	0	0	C	20512713	T	C	20512713	2	2	160	1	0	0	0	0	0	0	0	1	14828	1567	55	5		5	SLIT2	4	20512713	Silent	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08		20512713	170641563	31	29069											
SLC34A2	10568	broad.mit.edu	37	chr4	25664203	25664203	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcaggtcagcagcccacTgcccctgataaaagcaaaga	13	4	10	14	1	1	2	1	1	0	1	1	2	1	2	4	1	4	3	4	1	3	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr4:25664203T>G	ENST00000382051.3	+	2	131	c.81T>G	c.(79-81)acT>acG	p.T27T	SLC34A2_ENST00000503434.1_Silent_p.T27T|SLC34A2_ENST00000504570.1_Silent_p.T27T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	27					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AGCAGCCCACTGCCCCTGATA	0.552			T	ROS1	NSCLC								4	91					0	0	0	0	G	25664203	T	G	25664203	2	3	160	1	0	0	0	0	0	0	0	1	14656	1567	55	5		5	SLC34A2	4	25664203	Silent	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	5151490	25664203	165490073	32	29070											
HERC5	51191	broad.mit.edu	37	chr4	89378627	89378627	+	Frame_Shift_Del	DEL	C	C	-																															ctcgcggtcttggaacgcggCggggcgggcgtccaggttca																										TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr4:89378627delC	ENST00000264350.3	+	1	360	c.207delC	c.(205-207)ggfs	p.G70fs		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	70					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGGAACGCGGCGGGGCGGGCG	0.756													2	4	---	---	---	---					-	89378627	C	-	89378627	7	5	160	1	0	1	0	1	0	0	0	0	7111	755	27	0	209	0	HERC5	4	89378627	Frame_Shift_Del	DEL	C	TCGA-CQ-7072-01A-21D-A30E-08	63714424	89378627	101775649	33	29071											
SEC24B	10427	broad.mit.edu	37	chr4	110451618	110451618	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttttggcccttctcaaaCaggtagctttttatacattg	9	17	7	8	0	1	0	1	0	1	0	2	0	1	0	1	2	3	3	1	2	4	9			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr4:110451618C>G	ENST00000265175.5	+	19	3305	c.3250C>G	c.(3250-3252)Cag>Gag	p.Q1084E	SEC24B_ENST00000504968.2_Missense_Mutation_p.Q1114E|SEC24B_ENST00000399100.2_Missense_Mutation_p.Q1049E	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1084					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CCTTCTCAAACAGGTAGCTTT	0.358													8	35					0	0	0	0	G	110451618	C	G	110451618	3	3	160	1	0	0	0	0	1	0	0	0	14082	479	17	4	3324	4	SEC24B	4	110451618	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	21072991	110451618	80702658	34	29072											
ZDHHC11	79844	broad.mit.edu	37	chr5	840588	840588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccagccttggggggatcggGggcttagggtgggggacata	6	7	20	8	1	0	0	0	0	0	0	1	2	0	2	2	8	1	1	2	8	2	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr5:840588G>A	ENST00000511539.1	-	2	271	c.167C>T	c.(166-168)cCc>cTc	p.P56L	ZDHHC11_ENST00000503758.2_Intron|ZDHHC11_ENST00000283441.8_Intron|ZDHHC11_ENST00000424784.2_Intron			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	0						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGGGGATCGGGGGCTTAGGGT	0.592													21	172					0	0	0	0	A	840588	G	A	840588	3	1	160	1	0	0	0	0	1	0	0	0	17696	1247	43	4		4	ZDHHC11	5	840588	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08		840588	180074672	35	29073											
IRX4	50805	broad.mit.edu	37	chr5	1878823	1878823	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagggcggcttcagctCgcacgccggcggctctgctt	4	8	16	13	5	2	0	1	0	1	0	3	1	2	1	1	5	2	5	1	5	1	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr5:1878823C>A	ENST00000505790.1	-	6	1276	c.820G>T	c.(820-822)Gag>Tag	p.E274*	IRX4_ENST00000513692.1_Nonsense_Mutation_p.E274*|IRX4_ENST00000231357.2_Nonsense_Mutation_p.E274*	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	274					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GGCTTCAGCTCGCACGCCGGC	0.697													8	26					0.000157383	0.000164101	1	0	A	1878823	C	A	1878823	4	1	160	1	0	0	0	0	0	1	0	0	7899	893	31	3	743	3	IRX4	5	1878823	Nonsense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	1038235	1878823	179036437	36	29074											
KDM3B	51780	broad.mit.edu	37	chr5	137753297	137753297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcaccaatgggatgtcaCaggtaaactggtgtgtgtgg	9	10	14	8	1	2	0	2	0	0	0	2	1	2	1	2	4	1	1	2	4	3	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr5:137753297C>A	ENST00000314358.5	+	13	3633	c.3433C>A	c.(3433-3435)Cag>Aag	p.Q1145K	KDM3B_ENST00000394866.1_Missense_Mutation_p.Q801K|KDM3B_ENST00000542866.1_Missense_Mutation_p.Q177K	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1145					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGGGATGTCACAGGTAAACTG	0.463													20	71					3.51602e-12	4.09006e-12	1	0	A	137753297	C	A	137753297	3	1	160	1	0	0	0	0	1	0	0	0	8180	479	17	4	3483	4	KDM3B	5	137753297	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	135874474	137753297	43161963	37	29075											
NSD1	64324	broad.mit.edu	37	chr5	176637435	176637435	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagaacatgttatctatgCagaaaaatgaaaagataaag	21	8	8	4	0	1	4	0	1	1	3	1	5	1	4	0	0	2	2	0	0	9	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr5:176637435C>T	ENST00000439151.2	+	5	2080	c.2035C>T	c.(2035-2037)Cag>Tag	p.Q679*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q576*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q410*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q410*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	679					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTTATCTATGCAGAAAAATGA	0.393			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			14	72					0	0	0	0	T	176637435	C	T	176637435	4	4	160	1	0	0	0	0	0	1	0	0	10740	711	25	4	2049	4	NSD1	5	176637435	Nonsense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	38884138	176637435	4277825	38	29076											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826309	34826309	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcccccttccccctgtccAtttgggcctgcctacccctc	3	11	6	21	0	0	0	0	0	0	0	3	0	2	0	9	1	3	0	9	1	2	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:34826309A>G	ENST00000192788.5	+	14	2347	c.2176A>G	c.(2176-2178)Att>Gtt	p.I726V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.I726V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	726										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCCCCTGTCCATTTGGGCCTG	0.542													21	45					0	0	0	0	G	34826309	A	G	34826309	3	3	160	1	0	0	0	0	1	0	0	0	17064	217	8	5	2230	5	UHRF1BP1	6	34826309	Missense_Mutation	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08		34826309	136288758	39	29077											
CUL9	23113	broad.mit.edu	37	chr6	43182962	43182962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaaacggcgtgatgaccGgccccagatcctgatgtatg	9	8	13	11	4	0	5	0	4	0	1	1	5	1	5	4	2	1	1	4	2	2	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:43182962G>A	ENST00000252050.4	+	30	5918	c.5834G>A	c.(5833-5835)cGg>cAg	p.R1945Q	CUL9_ENST00000372647.2_Missense_Mutation_p.R1917Q|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Missense_Mutation_p.R1835Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1945					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CGTGATGACCGGCCCCAGATC	0.622													4	113					0	0	0	0	A	43182962	G	A	43182962	3	1	160	1	0	0	0	0	1	0	0	0	4093	1116	39	1	5948	1	CUL9	6	43182962	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	8356653	43182962	127932105	40	29078											
CASP8AP2	9994	broad.mit.edu	37	chr6	90556398	90556398	+	RNA	DEL	T	T	-																															taattgtctttctaatttccTttttttttttttatgagaca																										TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:90556398delT	ENST00000551025.1	+	0	1492							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTAAtttccttttttttttt	0.418													4	6	---	---	---	---					-	90556398	T	-	90556398	6	5	160	0	1	1	0	1	0	0	0	0	2703	1624	56	0		0	CASP8AP2	6	90556398	RNA	DEL	T	TCGA-CQ-7072-01A-21D-A30E-08	47373436	90556398	80558669	41	29079											
DDO	8528	broad.mit.edu	37	chr6	110714071	110714071	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgccccagtgcactgaGatgcccccactcccatggcc	7	6	10	18	0	0	1	0	1	0	1	1	2	1	1	6	1	3	2	6	1	0	0			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:110714071G>T	ENST00000368924.3	-	5	1032	c.1017C>A	c.(1015-1017)atC>atA	p.I339I	DDO_ENST00000368923.3_Silent_p.I280I|DDO_ENST00000368925.1_Silent_p.I311I	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	311					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		AGTGCACTGAGATGCCCCCAC	0.622													19	60					9.7654e-05	0.000102447	1	0	T	110714071	G	T	110714071	2	4	160	1	0	0	0	0	0	0	0	1	4366	932	33	2		2	DDO	6	110714071	Silent	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	20157673	110714071	60400996	42	29080											
EPB41L2	2037	broad.mit.edu	37	chr6	131184794	131184794	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctggtcatgatcaataTctccatctcctgtgatcaca	10	14	5	12	0	5	2	3	2	2	0	7	2	5	2	3	1	1	0	3	1	3	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:131184794T>A	ENST00000337057.3	-	18	3075	c.2894A>T	c.(2893-2895)gAt>gTt	p.D965V	EPB41L2_ENST00000530757.1_Missense_Mutation_p.D161V|EPB41L2_ENST00000525271.1_Missense_Mutation_p.D633V|EPB41L2_ENST00000530481.1_Missense_Mutation_p.D812V|EPB41L2_ENST00000525193.1_Missense_Mutation_p.D666V|EPB41L2_ENST00000524581.1_Missense_Mutation_p.D343V|EPB41L2_ENST00000531410.1_Missense_Mutation_p.D86V|EPB41L2_ENST00000529208.1_Missense_Mutation_p.D895V|EPB41L2_ENST00000392427.3_Missense_Mutation_p.D633V|EPB41L2_ENST00000368128.2_Missense_Mutation_p.D965V|EPB41L2_ENST00000528282.1_Missense_Mutation_p.D707V|EPB41L2_ENST00000445890.2_Missense_Mutation_p.D707V|EPB41L2_ENST00000527659.1_Missense_Mutation_p.D771V|EPB41L2_ENST00000527411.1_Missense_Mutation_p.D895V	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	965	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATGATCAATATCTCCATCTCC	0.358													4	36					0	0	0	0	A	131184794	T	A	131184794	3	1	160	1	0	0	0	0	1	0	0	0	5191	1435	50	5	131	5	EPB41L2	6	131184794	Missense_Mutation	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	20470723	131184794	39930273	43	29081											
IL20RA	53832	broad.mit.edu	37	chr6	137325845	137325845	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagaaacacggtaatagaTacgggcaaaacataccagaa	22	4	8	7	2	0	3	0	0	0	3	0	3	0	3	1	2	4	2	1	2	10	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:137325845T>A	ENST00000367748.1	-	5	1030	c.444A>T	c.(442-444)gtA>gtT	p.V148V	IL20RA_ENST00000541547.1_Silent_p.V210V|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Silent_p.V259V			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	259	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CGGTAATAGATACGGGCAAAA	0.388													54	115					0	0	0	0	A	137325845	T	A	137325845	2	1	160	1	0	0	0	0	0	0	0	1	7721	1393	49	5		5	IL20RA	6	137325845	Silent	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	6141051	137325845	33789222	44	29082											
PEX3	8504	broad.mit.edu	37	chr6	143810326	143810326	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agactttgctgctaatgtgtAtgaagcttttagtacccctc	9	15	8	9	0	0	2	0	1	0	1	1	2	0	2	2	0	4	5	2	0	5	6			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:143810326A>C	ENST00000367591.4	+	12	1148	c.1085A>C	c.(1084-1086)tAt>tCt	p.Y362S	RP1-20N2.6_ENST00000591892.1_RNA	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	362					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		GCTAATGTGTATGAAGCTTTT	0.328													15	62					0	0	0	0	C	143810326	A	C	143810326	3	2	160	1	0	0	0	0	1	0	0	0	11819	449	16	5	1131	5	PEX3	6	143810326	Missense_Mutation	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08	6484481	143810326	27304741	45	29083											
AKAP12	9590	broad.mit.edu	37	chr6	151671464	151671464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctaccttgtcttccacCgagagcacagcctctgaaat	10	9	8	14	2	2	2	0	1	2	1	3	3	3	2	4	0	4	2	4	0	2	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:151671464C>T	ENST00000402676.2	+	4	2178	c.1938C>T	c.(1936-1938)acC>acT	p.T646T	AKAP12_ENST00000354675.6_Silent_p.T548T|AKAP12_ENST00000253332.1_Silent_p.T646T|AKAP12_ENST00000359755.5_Silent_p.T541T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	646					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGTCTTCCACCGAGAGCACAG	0.502													3	50					0	0	0	0	T	151671464	C	T	151671464	2	4	160	1	0	0	0	0	0	0	0	1	448	639	23	1		1	AKAP12	6	151671464	Silent	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	7861138	151671464	19443603	46	29084											
SYNE1	23345	broad.mit.edu	37	chr6	152841661	152841661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggattcgcttcatccggCgtccttgttcacaaggctgt	6	13	10	12	3	2	0	2	0	0	0	5	1	4	1	2	3	0	3	2	3	1	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:152841661C>T	ENST00000367255.5	-	6	843	c.242G>A	c.(241-243)cGc>cAc	p.R81H	SYNE1_ENST00000413186.2_Missense_Mutation_p.R81H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R81H|SYNE1_ENST00000466159.2_Missense_Mutation_p.R81H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R81H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R81H|SYNE1_ENST00000367248.3_Missense_Mutation_p.R81H|SYNE1_ENST00000367253.4_Missense_Mutation_p.R81H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R81H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	81	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCATCCGGCGTCCTTGTTC	0.388										HNSCC(10;0.0054)			9	89					0	0	0	0	T	152841661	C	T	152841661	3	4	160	1	0	0	0	0	1	0	0	0	15536	768	27	1	26813	1	SYNE1	6	152841661	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	1170197	152841661	18273406	47	29085											
PRKAR1B	5575	broad.mit.edu	37	chr7	647052	647052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtataacagtctccccagCgatgtgagtgacagggaaca	12	8	11	10	1	1	2	0	2	1	0	2	4	1	3	2	1	3	1	2	1	3	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:647052C>T	ENST00000406797.1	-	5	652	c.478G>A	c.(478-480)Gct>Act	p.A160T	AC147651.4_ENST00000429872.1_RNA|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.A160T|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.A160T|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.A160T|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.A160T	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	160					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GTCTCCCCAGCGATGTGAGTG	0.468													4	66					0	0	0	0	T	647052	C	T	647052	3	4	160	1	0	0	0	0	1	0	0	0	12584	768	27	1	695	1	PRKAR1B	7	647052	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08		647052	158491611	48	29086											
CHN2	1124	broad.mit.edu	37	chr7	29438072	29438072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccttagagaaagccagcGgcaaccaggatgctacacgc	13	5	10	13	2	0	1	0	0	0	1	1	3	1	2	3	2	5	2	3	2	4	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:29438072G>A	ENST00000222792.6	+	5	790	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	CHN2_ENST00000435288.2_Missense_Mutation_p.R87Q|CHN2_ENST00000546235.1_Missense_Mutation_p.R72Q|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000539406.1_Missense_Mutation_p.R162Q|CHN2_ENST00000495789.2_Missense_Mutation_p.R100Q	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	87	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GAAAGCCAGCGGCAACCAGGA	0.512													19	60					0	0	0	0	A	29438072	G	A	29438072	3	1	160	1	0	0	0	0	1	0	0	0	3392	1116	39	1	278	1	CHN2	7	29438072	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	28791020	29438072	129700591	49	29087											
VWC2	375567	broad.mit.edu	37	chr7	49951682	49951682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggcagagaagtgaaGactgacgagtgcaccatatg	12	7	13	9	1	0	4	0	2	0	2	0	6	0	4	2	1	2	3	2	1	3	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:49951682G>T	ENST00000340652.3	+	4	1435	c.879G>T	c.(877-879)aaG>aaT	p.K293N	ZPBP_ENST00000491129.1_Intron	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	293					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GAGAAGTGAAGACTGACGAGT	0.453													16	63					1.67942e-08	1.8409e-08	1	0	T	49951682	G	T	49951682	3	4	160	1	0	0	0	0	1	0	0	0	17339	933	33	2	889	2	VWC2	7	49951682	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	20513610	49951682	109186981	50	29088											
PSPH	5723	broad.mit.edu	37	chr7	56084927	56084927	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttactgttaacatcttacCgttaaagtagaatttcagcc	12	15	6	8	1	2	1	1	0	1	1	2	1	2	1	2	0	4	4	2	0	7	6			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:56084927C>A	ENST00000395471.3	-	6	1226	c.421_splice	c.e6+1	p.G141_splice	PSPH_ENST00000275605.3_Splice_Site_p.G141_splice|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	141					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AACATCTTACCGTTAAAGTAG	0.383													15	208					2.31682e-05	2.44553e-05	1	0	A	56084927	C	A	56084927	5	1	160	1	0	0	0	0	0	0	1	0	12796	666	23	3	268	3	PSPH	7	56084927	Splice_Site	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	6133245	56084927	103053736	51	29089											
PCLO	27445	broad.mit.edu	37	chr7	82451849	82451849	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgcacggcagcttcggcaGcagctatggcagcccctgca	7	7	13	14	2	0	0	0	0	0	0	1	0	0	0	2	3	6	9	2	3	1	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:82451849G>T	ENST00000423517.2	-	20	15090	c.14753C>A	c.(14752-14754)gCt>gAt	p.A4918D	PCLO_ENST00000333891.8_Missense_Mutation_p.A4918D|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4780					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCTTCGGCAGCAGCTATGGC	0.502													82	129					5.71386e-39	7.1319e-39	1	0	T	82451849	G	T	82451849	3	4	160	1	0	0	0	0	1	0	0	0	11654	971	34	4	716	4	PCLO	7	82451849	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	26366922	82451849	76686814	52	29090											
AKAP9	10142	broad.mit.edu	37	chr7	91672001	91672001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaatggaaatgaaaaccaagGagaagttgaagaacaaacat	22	5	10	4	0	0	4	0	2	0	2	0	7	0	5	1	2	3	1	1	2	9	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:91672001G>T	ENST00000359028.2	+	21	5339	c.5114G>T	c.(5113-5115)gGa>gTa	p.G1705V	AKAP9_ENST00000358100.2_Missense_Mutation_p.G1705V|AKAP9_ENST00000356239.3_Missense_Mutation_p.G1693V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1705					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAAACCAAGGAGAAGTTGAA	0.343			T	BRAF	papillary thyroid								24	30					1.85244e-09	2.084e-09	1	0	T	91672001	G	T	91672001	3	4	160	1	0	0	0	0	1	0	0	0	459	1174	41	2	5156	2	AKAP9	7	91672001	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	9220152	91672001	67466662	53	29091											
ZNF655	79027	broad.mit.edu	37	chr7	99170042	99170042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagacttcaggaaattctaaGgaaatttctgtacctggaga	15	11	9	6	0	3	2	1	0	2	2	3	5	3	4	1	3	1	1	1	3	5	5			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:99170042G>A	ENST00000424881.1	+	4	636	c.416G>A	c.(415-417)aGg>aAg	p.R139K	ZNF655_ENST00000493277.1_Missense_Mutation_p.R139K|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.R104K|ZNF655_ENST00000252713.4_Missense_Mutation_p.R104K	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	104					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GAAATTCTAAGGAAATTTCTG	0.398													6	60					0	0	0	0	A	99170042	G	A	99170042	3	1	160	1	0	0	0	0	1	0	0	0	18163	1000	35	4	848	4	ZNF655	7	99170042	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	7498041	99170042	59968621	54	29092											
EPHB4	2050	broad.mit.edu	37	chr7	100417799	100417799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggtctgtgcgtgcccGgaagtacccgacgcggcact	5	6	16	14	6	1	0	0	0	1	0	1	2	1	1	3	4	3	2	3	4	2	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:100417799G>A	ENST00000358173.3	-	5	1396	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	EPHB4_ENST00000360620.3_Missense_Mutation_p.R310W|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	310	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGCGTGCCCGGAAGTACCCG	0.637													5	193					0	0	0	0	A	100417799	G	A	100417799	3	1	160	1	0	0	0	0	1	0	0	0	5215	1115	39	1	2087	1	EPHB4	7	100417799	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	1247757	100417799	58720864	55	29093											
RNF133	168433	broad.mit.edu	37	chr7	122338281	122338281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttgtccaaatgtgttcTgaagatctgttgttaatcgc	9	15	11	6	1	2	2	0	1	2	1	4	3	3	3	1	1	0	4	1	1	3	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:122338281T>C	ENST00000340112.2	-	1	929	c.692A>G	c.(691-693)cAg>cGg	p.Q231R	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	231						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AAATGTGTTCTGAAGATCTGT	0.388													36	70					0	0	0	0	C	122338281	T	C	122338281	3	2	160	1	0	0	0	0	1	0	0	0	13524	1580	55	5	442	5	RNF133	7	122338281	Missense_Mutation	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	21920482	122338281	36800382	56	29094											
IQUB	154865	broad.mit.edu	37	chr7	123150065	123150065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggtattacaatttcctggCccactggaataagtacaact	14	11	7	9	0	0	0	0	0	0	0	1	1	1	1	2	3	3	2	2	3	8	5			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:123150065C>G	ENST00000466202.1	-	3	998	c.422G>C	c.(421-423)gGc>gCc	p.G141A	IQUB_ENST00000324698.6_Missense_Mutation_p.G141A|IQUB_ENST00000434450.1_Missense_Mutation_p.G141A|IQUB_ENST00000488987.1_Intron			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	141	Ubiquitin-like.									breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AATTTCCTGGCCCACTGGAAT	0.318													19	123					0	0	0	0	G	123150065	C	G	123150065	3	3	160	1	0	0	0	0	1	0	0	0	7873	739	26	4	1997	4	IQUB	7	123150065	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	811784	123150065	35988598	57	29095											
TRIM24	8805	broad.mit.edu	37	chr7	138265313	138265313	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcccctaacagtggagaGtggatttgcactttctgccg	7	13	11	10	1	1	1	0	0	1	1	2	3	2	2	3	2	3	1	3	2	1	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:138265313G>A	ENST00000343526.4	+	16	2807	c.2592G>A	c.(2590-2592)gaG>gaA	p.E864E	TRIM24_ENST00000415680.2_Silent_p.E830E			O15164	TIF1A_HUMAN	tripartite motif containing 24	864					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ACAGTGGAGAGTGGATTTGCA	0.408													21	151					0	0	0	0	A	138265313	G	A	138265313	2	1	160	1	0	0	0	0	0	0	0	1	16593	1020	36	4		4	TRIM24	7	138265313	Silent	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	15115248	138265313	20873350	58	29096											
RBM33	155435	broad.mit.edu	37	chr7	155534530	155534530	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatacaacttctcagaaTgtaagcaagcggcccatgca	16	7	8	10	1	1	2	1	0	1	2	2	2	1	2	1	1	5	3	1	1	7	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:155534530T>C	ENST00000401878.3	+	13	2265	c.2067T>C	c.(2065-2067)aaT>aaC	p.N689N		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	689							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CTTCTCAGAATGTAAGCAAGC	0.408													68	82					0	0	0	0	C	155534530	T	C	155534530	2	2	160	1	0	0	0	0	0	0	0	1	13212	1461	51	5		5	RBM33	7	155534530	Silent	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	17269217	155534530	3604133	59	29097											
RP1	6101	broad.mit.edu	37	chr8	55537873	55537873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaactgaggttcaagaGaaaatgattggacagttttc	14	12	10	5	0	2	4	1	3	1	1	3	6	2	5	0	2	1	2	0	2	4	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:55537873G>T	ENST00000220676.1	+	4	1579	c.1431G>T	c.(1429-1431)gaG>gaT	p.E477D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	477					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGTTCAAGAGAAAATGATTG	0.388													14	62					4.7546e-09	5.31397e-09	1	0	T	55537873	G	T	55537873	3	4	160	1	0	0	0	0	1	0	0	0	13617	933	33	2	1441	2	RP1	8	55537873	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08		55537873	90826149	60	29098											
CHD7	55636	broad.mit.edu	37	chr8	61743066	61743097	+	Frame_Shift_Del	DEL	TAACGTACCTAACCTATTAAACACTATGATGG	TAACGTACCTAACCTATTAAACACTATGATGG	-																															tccaaaggcggtggtcaagcTaacgtacctaacctattaaa																										TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:61743066_61743097delTAACGTACCTAACCTATTAAACACTATGATGG	ENST00000423902.2	+	15	4187_4218	c.3708_3739delTAACGTACCTAACCTATTAAACACTATGATGG	c.(3706-3741)gcaafs	p.ANVPNLLNTMME1236fs	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1236					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTGGTCAAGCTAACGTACCTAACCTATTAAACACTATGATGGAATTGCGGAA	0.414													8	72	---	---	---	---					-	61743097	TAACGTACCTAACCTATTAAACACTATGATGG	-	61743066	7	5	160	1	0	1	0	1	0	0	0	0	3359	1509	53	0	3762	0	CHD7	8	61743066	Frame_Shift_Del	DEL	TAACGTACCTAACCTATTAAACACTATGATGG	TCGA-CQ-7072-01A-21D-A30E-08	6205193	61743066	84620956	61	29099											
RIMS2	9699	broad.mit.edu	37	chr8	104948826	104948826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtaaagaaaacattggaacCcaaatggaaccaaacattca	21	6	6	8	0	1	1	1	0	0	1	1	3	1	3	2	2	4	1	2	2	8	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:104948826C>T	ENST00000507740.1	+	10	2035	c.1799C>T	c.(1798-1800)cCc>cTc	p.P600L	RIMS2_ENST00000436393.2_Missense_Mutation_p.P586L|RIMS2_ENST00000262231.10_Missense_Mutation_p.P647L|RIMS2_ENST00000406091.3_Missense_Mutation_p.P808L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	870					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACATTGGAACCCAAATGGAAC	0.358										HNSCC(12;0.0054)			15	58					0	0	0	0	T	104948826	C	T	104948826	3	4	160	1	0	0	0	0	1	0	0	0	13453	623	22	4	2599	4	RIMS2	8	104948826	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	43205760	104948826	41415196	62	29100											
LRP12	29967	broad.mit.edu	37	chr8	105509420	105509420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttacaatggaaatttcCtggttggcaaaaaaagcagt	14	13	9	5	0	0	0	0	0	0	0	1	1	1	1	1	3	2	4	1	3	6	5			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:105509420C>T	ENST00000276654.5	-	5	1468	c.1360G>A	c.(1360-1362)Gga>Aga	p.G454R	LRP12_ENST00000424843.2_Missense_Mutation_p.G435R	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	454	LDL-receptor class A 5.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGGAAATTTCCTGGTTGGCAA	0.418													25	79					0	0	0	0	T	105509420	C	T	105509420	3	4	160	1	0	0	0	0	1	0	0	0	9018	690	24	4	1231	4	LRP12	8	105509420	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	560594	105509420	40854602	63	29101											
ASAP1	50807	broad.mit.edu	37	chr8	131181242	131181242	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttataaagaacttacattaTataaatcagcagccagtttt	16	15	4	6	0	1	1	1	0	0	1	1	1	1	1	1	0	4	2	1	0	9	9			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:131181242T>C	ENST00000357668.1	-	9	845	c.818A>G	c.(817-819)tAt>tGt	p.Y273C	ASAP1_ENST00000518721.1_Missense_Mutation_p.Y273C			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	273					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ACTTACATTATATAAATCAGC	0.284													18	30					0	0	0	0	C	131181242	T	C	131181242	3	2	160	1	0	0	0	0	1	0	0	0	1014	1406	49	5	2655	5	ASAP1	8	131181242	Missense_Mutation	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	25671822	131181242	15182780	64	29102											
TRAPPC9	83696	broad.mit.edu	37	chr8	141461050	141461050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attctcttctccaccgtctgGcagtcctcgtagttggggta	5	14	10	12	2	3	0	0	0	3	0	7	0	4	0	3	3	0	4	3	3	2	5			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:141461050G>A	ENST00000389328.4	-	2	731	c.717C>T	c.(715-717)tgC>tgT	p.C239C	TRAPPC9_ENST00000389327.3_Silent_p.C141C|TRAPPC9_ENST00000438773.2_Silent_p.C141C	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	141					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCACCGTCTGGCAGTCCTCGT	0.577													15	39					0	0	0	0	A	141461050	G	A	141461050	2	1	160	1	0	0	0	0	0	0	0	1	16560	1195	42	4		4	TRAPPC9	8	141461050	Silent	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	10279808	141461050	4902972	65	29103											
TRPM6	140803	broad.mit.edu	37	chr9	77407569	77407569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaacttgacaattggagCactgtagaactcatagactt	15	10	7	9	0	1	3	1	1	0	2	1	4	1	4	1	1	3	2	1	1	6	5			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr9:77407569C>T	ENST00000451710.3	-	19	2746	c.2509G>A	c.(2509-2511)Gct>Act	p.A837T	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.A832T|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.A837T|TRPM6_ENST00000449912.2_Missense_Mutation_p.A832T|TRPM6_ENST00000360774.1_Missense_Mutation_p.A837T			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	837					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						ACAATTGGAGCACTGTAGAAC	0.403													9	43					0	0	0	0	T	77407569	C	T	77407569	3	4	160	1	0	0	0	0	1	0	0	0	16685	710	25	4	3643	4	TRPM6	9	77407569	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08		77407569	63805862	66	29104											
OR13D1	286365	broad.mit.edu	37	chr9	107457357	107457357	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattttggcccttctaaaaCttgtttgttcagatatcacc	11	16	5	9	0	3	1	2	0	1	1	3	1	3	1	2	1	1	2	2	1	4	8			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr9:107457357C>G	ENST00000318763.5	+	1	698	c.655C>G	c.(655-657)Ctt>Gtt	p.L219V		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CCTTCTAAAACTTGTTTGTTC	0.358													18	116					0	0	0	0	G	107457357	C	G	107457357	3	3	160	1	0	0	0	0	1	0	0	0	11011	565	20	4	657	4	OR13D1	9	107457357	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	30049788	107457357	33756074	67	29105											
RPP38	10557	broad.mit.edu	37	chr10	15145770	15145770	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgattcagttaagcctaAgcagaagtgtccctgcctgt	10	12	9	10	0	1	2	1	1	0	1	2	2	2	2	3	0	3	2	3	0	3	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr10:15145770A>C	ENST00000378197.4	+	3	971	c.457A>C	c.(457-459)Agc>Cgc	p.S153R	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_Intron|RPP38_ENST00000378202.5_Missense_Mutation_p.S153R	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	153					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						GTTAAGCCTAAGCAGAAGTGT	0.502													8	66					0	0	0	0	C	15145770	A	C	15145770	3	2	160	1	0	0	0	0	1	0	0	0	13698	72	3	5	459	5	RPP38	10	15145770	Missense_Mutation	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08		15145770	120388977	68	29106											
SLC29A3	55315	broad.mit.edu	37	chr10	73122036	73122036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtggccggcagctcaccGcctggatccaggtgccaggg	6	7	15	13	2	1	0	1	0	0	0	2	1	2	1	5	5	2	2	5	5	1	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr10:73122036G>A	ENST00000373189.5	+	6	1151	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	367					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GCAGCTCACCGCCTGGATCCA	0.597													5	183					0	0	0	0	A	73122036	G	A	73122036	3	1	160	1	0	0	0	0	1	0	0	0	14624	1087	38	1	1125	1	SLC29A3	10	73122036	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	57976266	73122036	62412711	69	29107											
NRG3	10718	broad.mit.edu	37	chr10	83635736	83635736	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgacccccggtgccaGgaactccaagtacccaggca	9	4	10	18	2	0	0	0	0	0	0	2	2	2	1	6	3	3	3	6	3	3	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr10:83635736G>T	ENST00000404547.1	+	1	640	c.640G>T	c.(640-642)Gga>Tga	p.G214*	NRG3_ENST00000372141.2_Nonsense_Mutation_p.G214*			P56975	NRG3_HUMAN	neuregulin 3	214	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCCGGTGCCAGGAACTCCAAG	0.647													8	40					5.18039e-06	5.50215e-06	1	0	T	83635736	G	T	83635736	4	4	160	1	0	0	0	0	0	1	0	0	10720	1001	35	4	642	4	NRG3	10	83635736	Nonsense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	10513700	83635736	51899011	70	29108											
MUC2	4583	broad.mit.edu	37	chr11	1103214	1103214	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacttcaagagcgacccgaAgaacaactgcacattcttca	14	7	8	12	2	3	2	2	0	1	2	3	5	3	3	1	1	4	1	1	1	4	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:1103214A>G	ENST00000441003.2	+	46	7991	c.7964A>G	c.(7963-7965)aAg>aGg	p.K2655R		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5017						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCGACCCGAAGAACAACTGC	0.607													16	95					0	0	0	0	G	1103214	A	G	1103214	3	3	160	1	0	0	0	0	1	0	0	0	10045	72	3	5	8138	5	MUC2	11	1103214	Missense_Mutation	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08		1103214	133903302	71	29109											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606142	1606142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagccacccttggatcccCcacaagagccacagcccccc	10	3	6	22	0	0	1	0	0	0	1	1	2	1	2	8	1	3	0	8	1	1	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:1606142C>A	ENST00000382171.2	-	1	371	c.338G>T	c.(337-339)gGg>gTg	p.G113V	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	113	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTTGGATCCCCCACAAGAGCC	0.662													32	144					1.04352e-10	1.19759e-10	1	0	A	1606142	C	A	1606142	3	1	160	1	0	0	0	0	1	0	0	0	8611	623	22	4	502	4	KRTAP5-1	11	1606142	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	502928	1606142	133400374	72	29110											
OR4A15	81328	broad.mit.edu	37	chr11	55135817	55135817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctatgatcgatacatggCcatctgtaagcctcttcatg	9	12	9	11	1	3	1	1	1	2	0	4	2	3	1	3	2	2	1	3	2	3	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:55135817C>T	ENST00000314706.3	+	1	458	c.458C>T	c.(457-459)gCc>gTc	p.A153V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CGATACATGGCCATCTGTAAG	0.433													54	159					0	0	0	0	T	55135817	C	T	55135817	3	4	160	1	0	0	0	0	1	0	0	0	11111	739	26	4	460	4	OR4A15	11	55135817	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	53529675	55135817	79870699	73	29111											
DPF2	5977	broad.mit.edu	37	chr11	65116374	65116374	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctaccacatgtactgtctCaccccgtccatgtctgagcc	7	10	8	16	1	2	1	1	1	2	0	4	1	3	1	5	1	3	2	5	1	2	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:65116374C>T	ENST00000528416.1	+	10	1204	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	DPF2_ENST00000415073.2_Silent_p.L173L|DPF2_ENST00000252268.4_Silent_p.L371L	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	357					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGTACTGTCTCACCCCGTCCA	0.458													12	71					0	0	0	0	T	65116374	C	T	65116374	2	4	160	1	0	0	0	0	0	0	0	1	4753	813	29	2		2	DPF2	11	65116374	Silent	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	9980557	65116374	69890142	74	29112											
ACTN3	89	broad.mit.edu	37	chr11	66322613	66322613	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtccagctggaaggatggCctggccctctgtgccctcat	5	10	12	14	0	2	0	1	0	1	0	3	2	3	2	4	4	2	1	4	4	1	0			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:66322613C>A	ENST00000502692.1	+	0	815				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						GGAAGGATGGCCTGGCCCTCT	0.662													4	44					0.00024832	0.0002558	1	0	A	66322613	C	A	66322613	1	1	160	0	1	0	0	0	0	0	0	0	206	726	26	4		4	ACTN3	11	66322613	RNA	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	1206239	66322613	68683903	75	29113											
MOGAT2	80168	broad.mit.edu	37	chr11	75439906	75439906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gattcccaactcttctggctCctggttacgctatatccaga	8	13	7	13	1	2	1	0	0	2	1	5	2	5	1	3	2	2	3	3	2	4	5			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:75439906C>T	ENST00000526712.1	+	4	1249	c.476C>T	c.(475-477)tCc>tTc	p.S159F	MOGAT2_ENST00000198801.5_Missense_Mutation_p.S241F			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	241					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TCTTCTGGCTCCTGGTTACGC	0.502													25	98					0	0	0	0	T	75439906	C	T	75439906	3	4	160	1	0	0	0	0	1	0	0	0	9765	855	30	2	740	2	MOGAT2	11	75439906	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	9117293	75439906	59566610	76	29114											
CCDC89	220388	broad.mit.edu	37	chr11	85396727	85396727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcattctcctccctcagCttgatgttctcactcttgta	5	18	4	14	0	5	1	3	1	4	0	9	1	6	1	2	0	1	3	2	0	1	6			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:85396727C>A	ENST00000316398.3	-	1	593	c.447G>T	c.(445-447)aaG>aaT	p.K149N		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	149						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCTCCCTCAGCTTGATGTTCT	0.507													45	84					8.05343e-35	9.97925e-35	1	0	A	85396727	C	A	85396727	3	1	160	1	0	0	0	0	1	0	0	0	2893	796	28	4	681	4	CCDC89	11	85396727	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	9956821	85396727	49609789	77	29115											
FAT3	120114	broad.mit.edu	37	chr11	92087380	92087380	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaactactcattaaggcaaAagcaaatgggaaactgaatc	19	7	8	7	0	1	1	1	1	0	0	2	3	1	2	0	2	4	2	0	2	8	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:92087380A>C	ENST00000298047.6	+	1	2119	c.2102A>C	c.(2101-2103)aAa>aCa	p.K701T	FAT3_ENST00000409404.2_Missense_Mutation_p.K701T|FAT3_ENST00000541502.1_Missense_Mutation_p.K701T|FAT3_ENST00000525166.1_Missense_Mutation_p.K551T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	701					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTAAGGCAAAAGCAAATGGG	0.393										TCGA Ovarian(4;0.039)			36	95					0	0	0	0	C	92087380	A	C	92087380	3	2	160	1	0	0	0	0	1	0	0	0	5736	14	1	5	2104	5	FAT3	11	92087380	Missense_Mutation	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08	6690653	92087380	42919136	78	29116											
SLCO1B3	28234	broad.mit.edu	37	chr12	21028329	21028329	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaatttcactatcattGcatgtgctgaaaacaaatga	18	11	6	6	0	2	3	2	2	0	1	2	3	2	3	0	0	3	2	0	0	6	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:21028329G>A	ENST00000381545.3	+	9	1107	c.888G>A	c.(886-888)ttG>ttA	p.L296L	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.L296L|LST3_ENST00000540229.1_Silent_p.L296L|SLCO1B3_ENST00000553473.1_Silent_p.L296L|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	296					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CACTATCATTGCATGTGCTGA	0.308													14	53					0	0	0	0	A	21028329	G	A	21028329	2	1	160	1	0	0	0	0	0	0	0	1	14812	1310	46	4		4	SLCO1B3	12	21028329	Silent	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08		21028329	112823566	79	29117											
KIF21A	55605	broad.mit.edu	37	chr12	39751240	39751240	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcaattattcttttaccCtagtaaaggaaaataatgtc	14	15	5	7	1	2	0	1	0	1	0	4	1	2	1	1	1	1	1	1	1	9	7			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:39751240C>A	ENST00000395670.3	-	9	1635		c.e9-1		KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTTTTACCCTAGTAAAGGA	0.353													12	38					2.61681e-11	3.02348e-11	1	0	A	39751240	C	A	39751240	5	1	160	1	0	0	0	0	0	0	1	0	8339	695	24	4	3929	4	KIF21A	12	39751240	Splice_Site	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	18722911	39751240	94100655	80	29118											
TARBP2	6895	broad.mit.edu	37	chr12	53898227	53898228	+	Frame_Shift_Ins	INS	-	-	A																															tgtctcccctcagcagtctgINSagtgcaaccccgttggtgct																										TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:53898227_53898228insA	ENST00000266987.2	+	5	952_953	c.469_470insA	c.(469-471)gtgfs	p.V157fs	TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.V66fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.V136fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.V136fs	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	157	Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						TCAGCAGTCTGAGTGCAACCCC	0.589													20	77	---	---	---	---					A	53898228	-	A	53898227	7	5	160	1	0	1	1	0	0	0	0	0	15647	1291	45	0	487	0	TARBP2	12	53898227	Frame_Shift_Ins	INS	-	TCGA-CQ-7072-01A-21D-A30E-08	14146987	53898227	79953668	81	29119											
ERBB3	2065	broad.mit.edu	37	chr12	56481609	56481609	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctgtgctcctcagtgtaAtggtcactgctttgggccca	6	13	10	12	0	3	0	2	0	1	0	4	0	4	0	2	2	2	3	2	2	1	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:56481609A>G	ENST00000267101.3	+	6	1084	c.644A>G	c.(643-645)aAt>aGt	p.N215S	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.N156S	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	215					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTCAGTGTAATGGTCACTGC	0.552													33	80					0	0	0	0	G	56481609	A	G	56481609	3	3	160	1	0	0	0	0	1	0	0	0	5246	101	4	5	797	5	ERBB3	12	56481609	Missense_Mutation	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08	2583382	56481609	77370286	82	29120											
NAV3	89795	broad.mit.edu	37	chr12	78452894	78452894	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgacagtggatgcagacAggtaatgctatcagcatata	14	10	11	6	0	1	2	1	1	0	1	1	3	1	3	0	2	3	4	0	2	4	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:78452894A>T	ENST00000397909.2	+	12	2808	c.2636_splice	c.e12+1	p.S879_splice	NAV3_ENST00000266692.7_Splice_Site_p.S879_splice|NAV3_ENST00000228327.6_Splice_Site_p.S879_splice|NAV3_ENST00000536525.2_Splice_Site_p.S879_splice|RP11-136F16.1_ENST00000549103.1_RNA			Q8IVL0	NAV3_HUMAN	neuron navigator 3	879						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGATGCAGACAGGTAATGCTA	0.383										HNSCC(70;0.22)			15	31					0	0	0	0	T	78452894	A	T	78452894	5	4	160	1	0	0	0	0	0	0	1	0	10255	202	7	5	2681	5	NAV3	12	78452894	Splice_Site	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08	21971285	78452894	55399001	83	29121											
ORAI1	84876	broad.mit.edu	37	chr12	122079278	122079278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaggccagccaaggcccaCcagcaagccccccgccagtg	9	1	11	20	1	0	0	0	0	0	0	0	0	0	0	9	2	3	1	9	2	2	0			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:122079278C>A	ENST00000330079.7	+	2	834	c.641C>A	c.(640-642)aCc>aAc	p.T214N		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	212					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		CCAAGGCCCACCAGCAAGCCC	0.667													11	44					9.70103e-10	1.09859e-09	1	0	A	122079278	C	A	122079278	3	1	160	1	0	0	0	0	1	0	0	0	11328	507	18	4	647	4	ORAI1	12	122079278	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	43626384	122079278	11772617	84	29122											
TMEM132D	121256	broad.mit.edu	37	chr12	129563105	129563105	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcctctgcagaagttcctGagccactgcagtggcaaaga	10	8	12	11	0	1	3	0	1	1	2	2	3	2	3	3	2	3	4	3	2	2	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:129563105G>C	ENST00000422113.2	-	8	2415	c.2089C>G	c.(2089-2091)Cag>Gag	p.Q697E	TMEM132D_ENST00000389441.4_Missense_Mutation_p.Q235E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	697						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGAAGTTCCTGAGCCACTGCA	0.592													16	86					0	0	0	0	C	129563105	G	C	129563105	3	2	160	1	0	0	0	0	1	0	0	0	16141	1299	45	2	1218	2	TMEM132D	12	129563105	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	7483827	129563105	4288790	85	29123											
SACS	26278	broad.mit.edu	37	chr13	23905822	23905822	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcacttctgctgtggggaaTaggattaaaacctttaactc	11	14	8	8	0	2	0	1	0	1	0	3	2	2	2	1	3	3	1	1	3	5	6			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr13:23905822T>A	ENST00000382298.3	-	10	12781	c.12193A>T	c.(12193-12195)Att>Ttt	p.I4065F	SACS_ENST00000402364.1_Missense_Mutation_p.I3315F|SACS_ENST00000382292.3_Missense_Mutation_p.I4065F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4065					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGTGGGGAATAGGATTAAAA	0.348													18	24					0	0	0	0	A	23905822	T	A	23905822	3	1	160	1	0	0	0	0	1	0	0	0	13889	1406	49	5	1550	5	SACS	13	23905822	Missense_Mutation	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08		23905822	91264056	86	29124											
HNRNPA1L2	144983	broad.mit.edu	37	chr13	53217364	53217364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtggggatggctataatgGatttggtaatgatggaagca	12	11	15	3	0	0	1	0	1	0	0	0	4	0	4	0	6	1	3	0	6	4	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr13:53217364G>T	ENST00000342657.3	+	7	1810	c.737G>T	c.(736-738)gGa>gTa	p.G246V	HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.G246V|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.G246V	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	246	Gly-rich.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						ggctataatggatttggtaat	0.463													10	41					3.07112e-06	3.3029e-06	1	0	T	53217364	G	T	53217364	3	4	160	1	0	0	0	0	1	0	0	0	7308	1174	41	2	739	2	HNRNPA1L2	13	53217364	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	29311542	53217364	61952514	87	29125											
KLHL1	57626	broad.mit.edu	37	chr13	70293535	70293535	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtagccgggaacagtgatTtgaagcaggagcatcatgac	13	7	13	8	1	1	3	1	3	0	0	1	5	1	5	1	2	4	3	1	2	3	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr13:70293535T>A	ENST00000377844.4	-	9	2740	c.1981A>T	c.(1981-1983)Aat>Tat	p.N661Y	KLHL1_ENST00000545028.1_Missense_Mutation_p.N468Y	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	661					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GAACAGTGATTTGAAGCAGGA	0.483													56	57					0	0	0	0	A	70293535	T	A	70293535	3	1	160	1	0	0	0	0	1	0	0	0	8417	1841	64	5	277	5	KLHL1	13	70293535	Missense_Mutation	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	17076171	70293535	44876343	88	29126											
MYCBP2	23077	broad.mit.edu	37	chr13	77779509	77779509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcagaataaccccagcctCctccatgacctagaatatat	13	8	7	13	0	0	3	0	1	0	2	2	3	2	3	6	1	2	1	6	1	6	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr13:77779509C>T	ENST00000407578.2	-	26	3991	c.3725G>A	c.(3724-3726)gGa>gAa	p.G1242E	MYCBP2_ENST00000544440.2_Missense_Mutation_p.G1204E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1204E|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCCCAGCCTCCTCCATGACC	0.368													42	35					0	0	0	0	T	77779509	C	T	77779509	3	4	160	1	0	0	0	0	1	0	0	0	10088	855	30	2	10543	2	MYCBP2	13	77779509	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	7485974	77779509	37390369	89	29127											
FAM155A	728215	broad.mit.edu	37	chr13	108518105	108518105	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagcacgctttcaaactcTtcgtatttctcctgagcatg	8	14	8	11	2	3	1	1	1	2	0	5	2	3	2	1	1	3	4	1	1	2	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr13:108518105T>C	ENST00000375915.2	-	1	978	c.840A>G	c.(838-840)gaA>gaG	p.E280E		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	280						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTTCAAACTCTTCGTATTTCT	0.532													73	73					0	0	0	0	C	108518105	T	C	108518105	2	2	160	1	0	0	0	0	0	0	0	1	5506	1606	56	5		5	FAM155A	13	108518105	Silent	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	30738596	108518105	6651773	90	29128											
HECTD1	25831	broad.mit.edu	37	chr14	31572142	31572142	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcacgtgtataacccagCttaggttcagtgtaattgat	10	14	9	8	1	2	1	2	1	0	0	2	1	2	1	1	1	2	4	1	1	4	6			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:31572142C>T	ENST00000399332.1	-	41	8018	c.7530G>A	c.(7528-7530)aaG>aaA	p.K2510K	HECTD1_ENST00000553700.1_Silent_p.K2510K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2510	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TATAACCCAGCTTAGGTTCAG	0.358													24	99					0	0	0	0	T	31572142	C	T	31572142	2	4	160	1	0	0	0	0	0	0	0	1	7089	796	28	4		4	HECTD1	14	31572142	Silent	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08		31572142	75777398	91	29129											
HECTD1	25831	broad.mit.edu	37	chr14	31590677	31590677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgttacatcagagcgggagCcagctcgacgttgcagggat	9	7	15	10	4	1	1	1	0	0	1	2	4	1	3	1	2	5	4	1	2	1	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:31590677C>A	ENST00000399332.1	-	28	5638	c.5150G>T	c.(5149-5151)gGc>gTc	p.G1717V	HECTD1_ENST00000553700.1_Missense_Mutation_p.G1717V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1717					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGAGCGGGAGCCAGCTCGACG	0.498													25	60					1.17739e-12	1.38851e-12	1	0	A	31590677	C	A	31590677	3	1	160	1	0	0	0	0	1	0	0	0	7089	739	26	4	2746	4	HECTD1	14	31590677	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	18535	31590677	75758863	92	29130											
VASH1	22846	broad.mit.edu	37	chr14	77229171	77229171	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagatttagggatgccaGgggggaagaaggtggctggg	10	7	20	4	1	0	2	0	0	0	2	1	5	0	4	1	7	1	1	1	7	4	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:77229171G>C	ENST00000167106.4	+	1	640	c.7G>C	c.(7-9)Ggg>Cgg	p.G3R	VASH1_ENST00000554237.1_Missense_Mutation_p.G3R	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	3					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGGGATGCCAGGGGGGAAGAA	0.647													3	13					0	0	0	0	C	77229171	G	C	77229171	3	2	160	1	0	0	0	0	1	0	0	0	17221	1000	35	4	9	4	VASH1	14	77229171	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	45638494	77229171	30120369	93	29131											
ATG2B	55102	broad.mit.edu	37	chr14	96782897	96782897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagactgaaactgctagAatgaaggcaaatgtagtgct	15	9	11	6	0	0	4	0	2	0	2	0	4	0	4	0	1	4	5	0	1	7	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:96782897A>G	ENST00000359933.4	-	21	4227	c.3334T>C	c.(3334-3336)Tct>Cct	p.S1112P		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1112										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAACTGCTAGAATGAAGGCAA	0.333													12	49					0	0	0	0	G	96782897	A	G	96782897	3	3	160	1	0	0	0	0	1	0	0	0	1098	246	9	5	2990	5	ATG2B	14	96782897	Missense_Mutation	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08	19553726	96782897	10566643	94	29132											
TECPR2	9895	broad.mit.edu	37	chr14	102912180	102912180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacccgtctgcataacgctcGgggatcagcagactctctgg	9	8	11	13	3	3	1	1	0	2	1	5	2	3	2	1	3	4	3	1	3	2	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:102912180G>A	ENST00000359520.7	+	13	3197	c.2971G>A	c.(2971-2973)Ggg>Agg	p.G991R	TECPR2_ENST00000558678.1_Missense_Mutation_p.G991R	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	991							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CATAACGCTCGGGGATCAGCA	0.542													8	121					0	0	0	0	A	102912180	G	A	102912180	3	1	160	1	0	0	0	0	1	0	0	0	15838	1116	39	1	3017	1	TECPR2	14	102912180	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	6129283	102912180	4437360	95	29133											
AHNAK2	113146	broad.mit.edu	37	chr14	105415896	105415896	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagccgcgcaccatccagCttagccttctgggcctggac	6	8	10	17	2	1	0	0	0	1	0	3	1	3	1	6	2	3	2	6	2	1	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:105415896C>T	ENST00000333244.5	-	7	6011	c.5892G>A	c.(5890-5892)aaG>aaA	p.K1964K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1964						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCATCCAGCTTAGCCTTCT	0.592													155	352					0	0	0	0	T	105415896	C	T	105415896	2	4	160	1	0	0	0	0	0	0	0	1	415	796	28	4		4	AHNAK2	14	105415896	Silent	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	2503716	105415896	1933644	96	29134											
BRF1	2972	broad.mit.edu	37	chr14	105677625	105677625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtgggagagcttgggagCaaagcctggaacgaagtggg	11	5	20	5	1	0	1	0	0	0	1	0	5	0	3	1	5	4	2	1	5	3	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:105677625C>A	ENST00000546474.1	-	17	16789	c.1830G>T	c.(1828-1830)ttG>ttT	p.L610F	BRF1_ENST00000379937.2_Missense_Mutation_p.L583F|BRF1_ENST00000440513.3_Missense_Mutation_p.L517F|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000446501.2_Missense_Mutation_p.L372F|BRF1_ENST00000547530.1_Missense_Mutation_p.L136F|BRF1_ENST00000327359.3_Missense_Mutation_p.L495F|BRF1_ENST00000392557.4_Missense_Mutation_p.L406F|BRF1_ENST00000379932.4_Intron	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	610					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		AGCTTGGGAGCAAAGCCTGGA	0.657													5	46					0.00116845	0.00118931	1	0	A	105677625	C	A	105677625	3	1	160	1	0	0	0	0	1	0	0	0	1518	709	25	4	211	4	BRF1	14	105677625	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	261729	105677625	1671915	97	29135											
IFT140	9742	broad.mit.edu	37	chr16	1561057	1561057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggcagtgggagacccagcCcccggtgcacggcgtccacg	6	4	16	15	4	0	1	0	0	0	1	1	2	1	1	4	4	2	2	4	4	0	0			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:1561057C>T	ENST00000426508.2	-	31	4640	c.4277G>A	c.(4276-4278)gGg>gAg	p.G1426E	IFT140_ENST00000361339.5_Missense_Mutation_p.G620E	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1426										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GAGACCCAGCCCCCGGTGCAC	0.677													3	24					0	0	0	0	T	1561057	C	T	1561057	3	4	160	1	0	0	0	0	1	0	0	0	7609	623	22	4	115	4	IFT140	16	1561057	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08		1561057	88793696	98	29136											
RNF40	9810	broad.mit.edu	37	chr16	30780842	30780842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagctagaggagaaggagcGagccttgcagggcagcctcg	11	4	17	9	2	0	2	0	0	0	2	1	6	0	3	2	3	5	3	2	3	3	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:30780842G>A	ENST00000324685.6	+	17	2942	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	RNF40_ENST00000402121.3_Missense_Mutation_p.R528Q|RNF40_ENST00000357890.5_Missense_Mutation_p.R736Q|RNF40_ENST00000563683.1_Missense_Mutation_p.R796Q|RNF40_ENST00000567365.1_3'UTR	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	836					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GAGAAGGAGCGAGCCTTGCAG	0.647													15	35					0	0	0	0	A	30780842	G	A	30780842	3	1	160	1	0	0	0	0	1	0	0	0	13578	1058	37	1	2569	1	RNF40	16	30780842	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	29219785	30780842	59573911	99	29137											
BCKDK	10295	broad.mit.edu	37	chr16	31121723	31121723	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacctcactctttacaggAtgaaaagctcgtccgctact	11	10	8	12	2	2	2	1	1	1	1	4	4	3	3	2	1	3	2	2	1	4	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:31121723A>T	ENST00000394951.1	+	8	1168	c.543_splice	c.e8-1	p.D182_splice	BCKDK_ENST00000394950.3_Splice_Site_p.D182_splice|BCKDK_ENST00000219794.6_Splice_Site_p.D182_splice|BCKDK_ENST00000287507.3_Splice_Site_p.D182_splice			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	182	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TCTTTACAGGATGAAAAGCTC	0.587													25	71					0	0	0	0	T	31121723	A	T	31121723	5	4	160	1	0	0	0	0	0	0	1	0	1365	347	12	5	567	5	BCKDK	16	31121723	Splice_Site	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08	340881	31121723	59233030	100	29138											
SLC6A2	6530	broad.mit.edu	37	chr16	55730148	55730148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttacaggagctggcctaGtgttcatcctgtatccagag	8	13	10	10	0	2	1	1	0	1	1	4	2	4	2	3	2	2	3	3	2	3	5			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:55730148G>T	ENST00000379906.2	+	8	1414	c.1159G>T	c.(1159-1161)Gtg>Ttg	p.V387L	SLC6A2_ENST00000219833.8_Missense_Mutation_p.V387L|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V282L|SLC6A2_ENST00000568943.1_Missense_Mutation_p.V387L|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V387L|SLC6A2_ENST00000566163.1_Missense_Mutation_p.V342L|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V387L	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	387					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCTGGCCTAGTGTTCATCCT	0.512													13	41					7.03913e-09	7.81617e-09	1	0	T	55730148	G	T	55730148	3	4	160	1	0	0	0	0	1	0	0	0	14771	1029	36	4	1280	4	SLC6A2	16	55730148	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	24608425	55730148	34624605	101	29139											
CKLF	51192	broad.mit.edu	37	chr16	66592200	66592200	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttatttttcatacttttAtatgtactcagacttgatcg	10	20	4	7	1	3	2	2	1	1	1	4	2	3	2	0	0	2	1	0	0	5	9			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:66592200A>T	ENST00000264001.4	+	2	335	c.186A>T	c.(184-186)ttA>ttT	p.L62F	CKLF_ENST00000532838.1_Intron|CKLF_ENST00000362093.4_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000345436.4_Missense_Mutation_p.L62F|CKLF_ENST00000351137.4_Intron|CKLF_ENST00000417030.2_Missense_Mutation_p.L62F|CKLF_ENST00000563092.1_Intron	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		TCATACTTTTATATGTACTCA	0.338													41	80					0	0	0	0	T	66592200	A	T	66592200	3	4	160	1	0	0	0	0	1	0	0	0	3477	446	16	5	192	5	CKLF	16	66592200	Missense_Mutation	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08	10862052	66592200	23762553	102	29140											
HYDIN	54768	broad.mit.edu	37	chr16	71098723	71098723	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctctgtattgaccaggTggagggcaggtacaacacac	11	7	11	12	0	1	1	0	1	1	0	1	2	1	2	3	4	2	3	3	4	3	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:71098723T>G	ENST00000393567.2	-	16	2246	c.2096A>C	c.(2095-2097)cAc>cCc	p.H699P	HYDIN_ENST00000538248.1_Missense_Mutation_p.H726P|HYDIN_ENST00000448691.1_Missense_Mutation_p.H699P|HYDIN_ENST00000448089.2_Missense_Mutation_p.H699P|HYDIN_ENST00000321489.5_Missense_Mutation_p.H699P|HYDIN_ENST00000541601.1_Missense_Mutation_p.H716P	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	699										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTGACCAGGTGGAGGGCAGG	0.498													4	19					0	0	0	0	G	71098723	T	G	71098723	3	3	160	1	0	0	0	0	1	0	0	0	7520	1696	59	5	13562	5	HYDIN	16	71098723	Missense_Mutation	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	4506523	71098723	19256030	103	29141											
NUDT7	283927	broad.mit.edu	37	chr16	77775623	77775623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccagcattacgtcacaCgtcttggtcaccgttttatt	9	14	7	11	3	3	1	2	1	1	0	3	1	3	1	2	1	2	2	2	1	2	5			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:77775623C>T	ENST00000268533.5	+	4	562	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.R112C|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000563839.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	165	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TTACGTCACACGTCTTGGTCA	0.483													8	62					0	0	0	0	T	77775623	C	T	77775623	3	4	160	1	0	0	0	0	1	0	0	0	10815	536	19	1	507	1	NUDT7	16	77775623	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	6676900	77775623	12579130	104	29142											
PRPF8	10594	broad.mit.edu	37	chr17	1555043	1555043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggatctccttcacctgggGgttatctggtgggctcaccc	4	11	13	13	1	4	0	2	0	2	0	5	1	4	1	3	5	0	2	3	5	1	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:1555043G>C	ENST00000572621.1	-	39	6674	c.6409C>G	c.(6409-6411)Ccc>Gcc	p.P2137A	PRPF8_ENST00000575116.1_5'UTR|PRPF8_ENST00000304992.6_Missense_Mutation_p.P2137A			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2137	MPN.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCACCTGGGGGTTATCTGGT	0.567													68	197					0	0	0	0	C	1555043	G	C	1555043	3	2	160	1	0	0	0	0	1	0	0	0	12655	1232	43	4	614	4	PRPF8	17	1555043	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08		1555043	79640167	105	29143											
PRPF8	10594	broad.mit.edu	37	chr17	1585429	1585429	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcctttctcacccccacTgggagatgtagacaggttca	9	10	9	13	0	3	2	3	0	1	2	4	3	3	2	3	2	1	2	3	2	1	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:1585429T>G	ENST00000572621.1	-	3	693	c.428A>C	c.(427-429)cAg>cCg	p.Q143P	PRPF8_ENST00000304992.6_Missense_Mutation_p.Q143P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	143						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCACCCCCACTGGGAGATGTA	0.532													11	31					0	0	0	0	G	1585429	T	G	1585429	3	3	160	1	0	0	0	0	1	0	0	0	12655	1580	55	5	6739	5	PRPF8	17	1585429	Missense_Mutation	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	30386	1585429	79609781	106	29144											
TP53	7157	broad.mit.edu	37	chr17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatggccatggcgcggaCgcgggtgccgggcgggggtg	4	5	23	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	1	rs121912654		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCGCGGACGCGGGTGCCG	0.617		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			50	32					5.76465e-13	6.84552e-13	1	0	A	7578461	C	A	7578461	3	1	160	1	0	0	0	0	1	0	0	0	16476	536	19	3	829	3	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	5993032	7578461	73616749	107	29145											
MYH4	4622	broad.mit.edu	37	chr17	10356159	10356159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgtatccattgtggattCttgggccaattttaggtcac	7	17	9	8	0	3	0	1	0	2	0	4	1	4	1	2	3	0	1	2	3	3	7			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:10356159C>T	ENST00000255381.2	-	25	3312	c.3202G>A	c.(3202-3204)Gaa>Aaa	p.E1068K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1068					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATTGTGGATTCTTGGGCCAAT	0.358													23	100					0	0	0	0	T	10356159	C	T	10356159	3	4	160	1	0	0	0	0	1	0	0	0	10107	922	32	2	2681	2	MYH4	17	10356159	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	2777698	10356159	70839051	108	29146											
CCDC144B	284047	broad.mit.edu	37	chr17	18498059	18498060	+	RNA	INS	-	-	A																															tactccattctaagttgttcINSatcagcaacataaaattctc																								rs66528329		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:18498059_18498060insA	ENST00000442583.1	-	0	898_899																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTAAGTTGTTCATCAGCAACAT	0.406													9	9	---	---	---	---					A	18498060	-	A	18498059	6	5	160	0	1	1	1	0	0	0	0	0	2803	826	29	0		0	CCDC144B	17	18498059	RNA	INS	-	TCGA-CQ-7072-01A-21D-A30E-08	8141900	18498059	62697151	109	29147											
ALDH3A2	224	broad.mit.edu	37	chr17	19561060	19561060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatgttttcccctcagacGcataacctggggaaaataca	12	10	9	10	1	1	1	1	0	0	1	2	3	2	3	3	3	2	2	3	3	4	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:19561060G>T	ENST00000176643.6	+	5	1129	c.683G>T	c.(682-684)cGc>cTc	p.R228L	ALDH3A2_ENST00000579855.1_Missense_Mutation_p.R228L|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.R228L|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.R228L|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.R228L			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	228			R -> C (in SLS; severe loss of activity).		cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	CCCCTCAGACGCATAACCTGG	0.368													25	25					1.66031e-10	1.89275e-10	1	0	T	19561060	G	T	19561060	3	4	160	1	0	0	0	0	1	0	0	0	498	1087	38	3	701	3	ALDH3A2	17	19561060	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	1063001	19561060	61634150	110	29148											
NEK8	284086	broad.mit.edu	37	chr17	27068430	27068430	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggggattcttcctggcaGagagcgaagtgtactcttgg	7	11	14	9	1	2	1	0	0	2	1	3	4	3	2	2	4	2	2	2	4	2	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:27068430G>A	ENST00000268766.6	+	14	1925		c.e14-1		AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8							cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTTCCTGGCAGAGAGCGAAGT	0.622													7	27					0	0	0	0	A	27068430	G	A	27068430	5	1	160	1	0	0	0	0	0	0	1	0	10400	956	33	2	1945	2	NEK8	17	27068430	Splice_Site	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	7507370	27068430	54126780	111	29149											
EZH1	2145	broad.mit.edu	37	chr17	40870501	40870501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagtcgtatttaaagcagCgccggcaaaaaagtgtgtgg	13	8	13	7	3	0	0	0	0	0	0	1	0	0	0	1	2	3	4	1	2	6	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:40870501C>T	ENST00000428826.2	-	9	1023	c.902G>A	c.(901-903)cGc>cAc	p.R301H	EZH1_ENST00000435174.1_Missense_Mutation_p.R162H|EZH1_ENST00000592743.1_Missense_Mutation_p.R301H|EZH1_ENST00000415827.2_Missense_Mutation_p.R292H|EZH1_ENST00000590078.1_Missense_Mutation_p.R231H|EZH1_ENST00000585893.1_Missense_Mutation_p.R261H			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	301					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTTAAAGCAGCGCCGGCAAAA	0.532													11	53					0	0	0	0	T	40870501	C	T	40870501	3	4	160	1	0	0	0	0	1	0	0	0	5371	768	27	1	1393	1	EZH1	17	40870501	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	13802071	40870501	40324709	112	29150											
MYL4	4635	broad.mit.edu	37	chr17	45299098	45299098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttcttgcccatcctgcagCacatttcccgcaacaaggag	9	9	8	15	2	1	0	0	0	1	0	3	1	3	1	3	1	4	4	3	1	2	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:45299098C>T	ENST00000354968.1	+	5	492	c.364C>T	c.(364-366)Cac>Tac	p.H122Y	MYL4_ENST00000572316.1_Missense_Mutation_p.H122Y|MYL4_ENST00000393450.1_Missense_Mutation_p.H122Y	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	122					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CATCCTGCAGCACATTTCCCG	0.527													29	102					0	0	0	0	T	45299098	C	T	45299098	3	4	160	1	0	0	0	0	1	0	0	0	10119	710	25	4	378	4	MYL4	17	45299098	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	4428597	45299098	35896112	113	29151											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856536	62856536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcagcacagagactgctGccttatgctcttgggtgaac	8	12	11	10	0	2	2	1	1	1	1	2	3	2	2	1	1	5	4	1	1	2	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:62856536G>A	ENST00000584306.1	-	11	4258	c.3728C>T	c.(3727-3729)gCa>gTa	p.A1243V	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1243V|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A361V|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A281V|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A220V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1243						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGAGACTGCTGCCTTATGCTC	0.567													33	80					0	0	0	0	A	62856536	G	A	62856536	3	1	160	1	0	0	0	0	1	0	0	0	9057	1319	46	4	1192	4	LRRC37A3	17	62856536	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	17557438	62856536	18338674	114	29152											
DSG1	1828	broad.mit.edu	37	chr18	28923454	28923454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgtgattgtggaggtgctCctcgtagtgcagctggcttt	4	15	15	7	1	0	1	0	1	0	0	2	2	1	2	1	3	3	6	1	3	1	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr18:28923454C>T	ENST00000257192.4	+	12	1941	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	577					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGAGGTGCTCCTCGTAGTGC	0.478													28	89					0	0	0	0	T	28923454	C	T	28923454	3	4	160	1	0	0	0	0	1	0	0	0	4812	855	30	2	1775	2	DSG1	18	28923454	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08		28923454	49153794	115	29153											
SETBP1	26040	broad.mit.edu	37	chr18	42530804	42530804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctaagccgcggaagcCacccatggtcatgacacctc	9	8	10	14	2	2	1	1	1	1	0	3	2	2	2	4	2	2	0	4	2	2	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr18:42530804C>T	ENST00000282030.5	+	4	1795	c.1499C>T	c.(1498-1500)cCa>cTa	p.P500L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	500						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCGCGGAAGCCACCCATGGTC	0.488									Schinzel-Giedion syndrome				28	61					0	0	0	0	T	42530804	C	T	42530804	3	4	160	1	0	0	0	0	1	0	0	0	14216	594	21	4	1702	4	SETBP1	18	42530804	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	13607350	42530804	35546444	116	29154											
ARID3A	1820	broad.mit.edu	37	chr19	964396	964396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcctcaacctgcccacGtccatcaccagtgcagcctt	9	7	8	17	1	2	0	2	0	0	0	3	0	3	0	6	1	4	1	6	1	2	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:964396G>A	ENST00000263620.3	+	5	1242	c.915G>A	c.(913-915)acG>acA	p.T305T		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	305	ARID.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		ACCTGCCCACGTCCATCACCA	0.632													14	11					0	0	0	0	A	964396	G	A	964396	2	1	160	1	0	0	0	0	0	0	0	1	918	1132	40	1		1	ARID3A	19	964396	Silent	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08		964396	58164587	117	29155											
GRIN3B	116444	broad.mit.edu	37	chr19	1007862	1007862	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggccccagcaggagcgacCcccccaagctcaacgccttc	8	3	9	21	3	1	0	1	0	0	0	2	2	1	1	7	2	4	2	7	2	2	1	rs144432988	byFrequency	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:1007862C>G	ENST00000234389.3	+	5	2225	c.2206C>G	c.(2206-2208)Ccc>Gcc	p.P736A		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	736					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CAGGAGCGACCCCCCCAAGCT	0.711													8	29					0	0	0	0	G	1007862	C	G	1007862	3	3	160	1	0	0	0	0	1	0	0	0	6834	623	22	4	2224	4	GRIN3B	19	1007862	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	43466	1007862	58121121	118	29156											
NDUFS7	374291	broad.mit.edu	37	chr19	1383927	1383927	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaggccgaggccaagaTggcggtgctgtcaggtgagc	8	7	17	9	2	2	3	1	2	1	1	2	4	2	3	2	5	2	1	2	5	2	0			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:1383927T>C	ENST00000313408.7	+	1	25	c.2T>C	c.(1-3)aTg>aCg	p.M1T	NDUFS7_ENST00000233627.9_Start_Codon_SNP_p.M1T|NDUFS7_ENST00000414651.2_Start_Codon_SNP_p.M1T|NDUFS7_ENST00000539480.1_Start_Codon_SNP_p.M1T|NDUFS7_ENST00000546283.1_Start_Codon_SNP_p.M1T			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	1					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	NADH(DB00157)	GAGGCCAAGATGGCGGTGCTG	0.731													4	8					0	0	0	0	C	1383927	T	C	1383927	1	2	160	1	0	0	0	0	0	0	0	0	10367	1464	51	5		5	NDUFS7	19	1383927	Translation_Start_Site	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	376065	1383927	57745056	119	29157											
DNMT1	1786	broad.mit.edu	37	chr19	10249128	10249128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctacctggttatgttgcTcacaaacttcttgtcatcca	9	14	5	13	0	3	0	2	0	1	0	4	0	4	0	3	1	3	3	3	1	3	5			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:10249128T>C	ENST00000340748.4	-	34	4289	c.4054A>G	c.(4054-4056)Agc>Ggc	p.S1352G	DNMT1_ENST00000540357.1_Missense_Mutation_p.S1352G|DNMT1_ENST00000359526.4_Missense_Mutation_p.S1368G			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1352	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GTTATGTTGCTCACAAACTTC	0.632													18	70					0	0	0	0	C	10249128	T	C	10249128	3	2	160	1	0	0	0	0	1	0	0	0	4711	1551	54	5	824	5	DNMT1	19	10249128	Missense_Mutation	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	8865201	10249128	48879855	120	29158											
ISYNA1	51477	broad.mit.edu	37	chr19	18545850	18545850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcagccacgggtccaactCgcttgaggctgggccctggg	5	7	16	13	2	0	1	0	1	0	0	2	1	1	1	3	5	2	3	3	5	1	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:18545850C>T	ENST00000545187.1	-	8	1386	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	ISYNA1_ENST00000578963.1_Missense_Mutation_p.R389Q|ISYNA1_ENST00000457269.3_Missense_Mutation_p.R463Q|ISYNA1_ENST00000317018.6_Missense_Mutation_p.R315Q|ISYNA1_ENST00000338128.7_Missense_Mutation_p.R517Q			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	517					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GGGTCCAACTCGCTTGAGGCT	0.612													26	114					0	0	0	0	T	18545850	C	T	18545850	3	4	160	1	0	0	0	0	1	0	0	0	7920	884	31	1	130	1	ISYNA1	19	18545850	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	8296722	18545850	40583133	121	29159											
ZNF536	9745	broad.mit.edu	37	chr19	30935718	30935718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcctgtgcccatgggcGgcatgtcccaggaggcccac	6	6	15	14	1	0	0	0	0	0	0	1	1	1	1	4	5	2	1	4	5	0	0			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:30935718G>A	ENST00000355537.3	+	2	1396	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCATGGGCGGCATGTCCCA	0.632													41	43					0	0	0	0	A	30935718	G	A	30935718	3	1	160	1	0	0	0	0	1	0	0	0	18069	1116	39	1	1251	1	ZNF536	19	30935718	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	12389868	30935718	28193265	122	29160											
FCGBP	8857	broad.mit.edu	37	chr19	40368659	40368659	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagtgtgccattagggAagacctggtcattgttgggg	8	10	16	7	0	1	1	1	0	0	1	1	3	1	2	3	4	2	1	3	4	2	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:40368659A>G	ENST00000221347.6	-	28	12696	c.12689T>C	c.(12688-12690)tTc>tCc	p.F4230S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4230	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCATTAGGGAAGACCTGGTC	0.637													14	168					0	0	0	0	G	40368659	A	G	40368659	3	3	160	1	0	0	0	0	1	0	0	0	5823	246	9	5	3564	5	FCGBP	19	40368659	Missense_Mutation	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08	9432941	40368659	18760324	123	29161											
LENG8	114823	broad.mit.edu	37	chr19	54969111	54969111	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctcgccccgctgccccAggtgcagggcatccgcaccg	4	7	12	18	4	1	0	0	0	1	0	3	0	2	0	6	2	2	5	6	2	0	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:54969111A>G	ENST00000326764.5	+	13	2312		c.e13-1		LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8								protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCGCTGCCCCAGGTGCAGGGC	0.682													28	67					0	0	0	0	G	54969111	A	G	54969111	5	3	160	1	0	0	0	0	0	0	1	0	8777	202	7	5	1878	5	LENG8	19	54969111	Splice_Site	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08	14600452	54969111	4159872	124	29162											
LENG9	94059	broad.mit.edu	37	chr19	54973894	54973894	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgcaggaccccactcggcTtctgtcgtctcagcggagcc	5	7	12	17	4	2	0	1	0	2	0	5	2	2	2	4	3	2	2	4	3	0	1			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:54973894T>A	ENST00000333834.4	-	1	1000	c.882A>T	c.(880-882)gaA>gaT	p.E294D		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	294					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCCACTCGGCTTCTGTCGTCT	0.662													11	67					0	0	0	0	A	54973894	T	A	54973894	3	1	160	1	0	0	0	0	1	0	0	0	8778	1606	56	5	627	5	LENG9	19	54973894	Missense_Mutation	SNP	T	TCGA-CQ-7072-01A-21D-A30E-08	4783	54973894	4155089	125	29163											
ZNF835	90485	broad.mit.edu	37	chr19	57176162	57176162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggcacgcaaatggcttCtccccggtgtggattctctg	5	11	13	12	3	2	0	0	0	2	0	5	1	2	1	2	5	0	3	2	5	1	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:57176162C>A	ENST00000537055.2	-	2	636	c.405G>T	c.(403-405)gaG>gaT	p.E135D		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CAAATGGCTTCTCCCCGGTGT	0.637													28	74					1.2476e-16	1.51305e-16	1	0	A	57176162	C	A	57176162	3	1	160	1	0	0	0	0	1	0	0	0	18279	912	32	2	1210	2	ZNF835	19	57176162	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	2202268	57176162	1952821	126	29164											
ZSCAN4	201516	broad.mit.edu	37	chr19	58187875	58187875	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggagagattcatagaagAcctgactgatgacagcataa	15	9	10	7	0	1	6	1	3	0	3	1	8	1	7	1	1	1	1	1	1	3	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:58187875A>T	ENST00000318203.5	+	3	1059	c.362A>T	c.(361-363)gAc>gTc	p.D121V		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	121	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCATAGAAGACCTGACTGAT	0.428													21	50					0	0	0	0	T	58187875	A	T	58187875	3	4	160	1	0	0	0	0	1	0	0	0	18328	275	10	5	364	5	ZSCAN4	19	58187875	Missense_Mutation	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08	1011713	58187875	941108	127	29165											
PAK7	57144	broad.mit.edu	37	chr20	9525046	9525046	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggtagcctagaaatcacCtcaggggccatccagtaggg	12	7	12	10	0	2	1	2	0	0	1	3	1	3	1	4	4	1	2	4	4	5	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:9525046C>T	ENST00000378429.3	-	9	2385	c.1839G>A	c.(1837-1839)gaG>gaA	p.E613E	PAK7_ENST00000378423.1_Silent_p.E613E|PAK7_ENST00000353224.5_Silent_p.E613E	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	613	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TAGAAATCACCTCAGGGGCCA	0.507													13	154					0	0	0	0	T	9525046	C	T	9525046	2	4	160	1	0	0	0	0	0	0	0	1	11476	680	24	4		4	PAK7	20	9525046	Silent	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08		9525046	53500474	128	29166											
NINL	22981	broad.mit.edu	37	chr20	25450670	25450670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagcttcaagctcttgccGaacccttcccagatcgtttt	7	13	7	14	2	2	1	1	0	1	1	4	2	3	1	3	0	5	4	3	0	2	5			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:25450670G>A	ENST00000278886.6	-	18	3383	c.3310C>T	c.(3310-3312)Cgg>Tgg	p.R1104W	NINL_ENST00000422516.1_Missense_Mutation_p.R755W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1104					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGCTCTTGCCGAACCCTTCCC	0.507													34	178					0	0	0	0	A	25450670	G	A	25450670	3	1	160	1	0	0	0	0	1	0	0	0	10490	1057	37	1	866	1	NINL	20	25450670	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	15925624	25450670	37574850	129	29167											
PIGU	128869	broad.mit.edu	37	chr20	33232018	33232018	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacagggcaatagcagtgaGtgcatcagttatctgtcaaa	14	10	10	7	0	3	1	2	1	1	0	3	1	3	1	0	1	3	4	0	1	5	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:33232018G>C	ENST00000374820.2	-	3	228	c.208C>G	c.(208-210)Ctc>Gtc	p.L70V	PIGU_ENST00000452740.2_Missense_Mutation_p.L90V			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	90					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						ATAGCAGTGAGTGCATCAGTT	0.408													10	71					0	0	0	0	C	33232018	G	C	33232018	3	2	160	1	0	0	0	0	1	0	0	0	11972	1029	36	4	1075	4	PIGU	20	33232018	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	7781348	33232018	29793502	130	29168											
OSBPL2	9885	broad.mit.edu	37	chr20	60856119	60856119	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggtgtcttcacagacataAtgaagcctacacctggacca	12	9	8	12	0	2	2	1	1	1	1	2	3	2	3	3	2	2	0	3	2	3	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:60856119A>G	ENST00000313733.3	+	8	882	c.680A>G	c.(679-681)aAt>aGt	p.N227S	OSBPL2_ENST00000439951.2_Missense_Mutation_p.N135S|OSBPL2_ENST00000358053.2_Missense_Mutation_p.N215S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	227					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CACAGACATAATGAAGCCTAC	0.537													45	144					0	0	0	0	G	60856119	A	G	60856119	3	3	160	1	0	0	0	0	1	0	0	0	11349	101	4	5	706	5	OSBPL2	20	60856119	Missense_Mutation	SNP	A	TCGA-CQ-7072-01A-21D-A30E-08	27624101	60856119	2169401	131	29169											
DSCAM	1826	broad.mit.edu	37	chr21	41447099	41447099	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgttggtcgtcagcccttCttcgttttggacaactgact	5	15	9	12	3	2	1	1	1	1	0	5	2	2	2	1	2	2	2	1	2	1	5			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr21:41447099C>A	ENST00000400454.1	-	27	5230	c.4753G>T	c.(4753-4755)Gaa>Taa	p.E1585*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1585					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTCAGCCCTTCTTCGTTTTGG	0.527													15	45					0.000422831	0.000432959	1	0	A	41447099	C	A	41447099	4	1	160	1	0	0	0	0	0	1	0	0	4804	922	32	2	1313	2	DSCAM	21	41447099	Nonsense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08		41447099	6682796	132	29170											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047708	46047708	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctgctctggggcttcctCtttgtgctgccagcagtctg	2	15	12	12	0	4	0	0	0	4	0	5	0	5	0	2	2	4	4	2	2	0	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr21:46047708C>G	ENST00000397911.3	+	1	669	c.620C>G	c.(619-621)tCt>tGt	p.S207C	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	207	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GGGGCTTCCTCTTTGTGCTGC	0.627													139	253					0	0	0	0	G	46047708	C	G	46047708	3	3	160	1	0	0	0	0	1	0	0	0	8568	913	32	2	622	2	KRTAP10-9	21	46047708	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	4600609	46047708	2082187	133	29171											
CCT8L2	150160	broad.mit.edu	37	chr22	17071795	17071795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatccaaggattttttttGtttccacaggaggtgggtgt	8	16	11	6	0	1	0	1	0	0	0	3	2	3	2	2	4	0	1	2	4	2	5			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr22:17071795G>A	ENST00000359963.3	-	1	1905	c.1646C>T	c.(1645-1647)aCa>aTa	p.T549I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	549					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GATTTTTTTTGTTTCCACAGG	0.403													24	90					0	0	0	0	A	17071795	G	A	17071795	3	1	160	1	0	0	0	0	1	0	0	0	2990	1377	48	4	31	4	CCT8L2	22	17071795	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08		17071795	34232771	134	29172											
A4GALT	53947	broad.mit.edu	37	chr22	43089136	43089136	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcagggtggtgacgccGcggcaggcgcggctctcggc	3	4	22	12	6	1	1	0	1	1	0	2	1	1	1	1	8	0	3	1	8	0	0			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr22:43089136G>A	ENST00000401850.1	-	2	1311	c.822C>T	c.(820-822)cgC>cgT	p.R274R	A4GALT_ENST00000249005.2_Silent_p.R274R|A4GALT_ENST00000381278.3_Silent_p.R274R			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	274					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	p.R274R(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						TGGTGACGCCGCGGCAGGCGC	0.667													5	17					0	0	0	0	A	43089136	G	A	43089136	2	1	160	1	0	0	0	0	0	0	0	1	6	1074	38	1		1	A4GALT	22	43089136	Silent	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	26017341	43089136	8215430	135	29173											
MAPK11	5600	broad.mit.edu	37	chr22	50705586	50705586	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtcctcgttcacagccacGttgctgggcttcaggtcctg	5	11	11	14	2	2	0	2	0	0	0	5	0	4	0	3	2	2	4	3	2	0	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr22:50705586G>A	ENST00000330651.6	-	6	565	c.465C>T	c.(463-465)aaC>aaT	p.N155N	MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Silent_p.N47N	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	155	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCACAGCCACGTTGCTGGGCT	0.697													3	32					0	0	0	0	A	50705586	G	A	50705586	2	1	160	1	0	0	0	0	0	0	0	1	9342	1136	40	1		1	MAPK11	22	50705586	Silent	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	7616450	50705586	598980	136	29174											
MAGEB1	4112	broad.mit.edu	37	chrX	30269040	30269040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgttgatgaaaagtacaagGatcacttcactgagatcctc	13	12	8	8	0	2	3	2	3	0	1	4	5	3	4	1	1	1	2	1	1	4	4			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chrX:30269040G>A	ENST00000378981.3	+	4	751	c.430G>A	c.(430-432)Gat>Aat	p.D144N	MAGEB1_ENST00000397548.2_Missense_Mutation_p.D144N|MAGEB1_ENST00000397550.1_Missense_Mutation_p.D144N	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	144	MAGE.			DH -> EY (in Ref. 7; AAH13772).						NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AAAGTACAAGGATCACTTCAC	0.473													8	13					0	0	0	0	A	30269040	G	A	30269040	3	1	160	1	0	0	0	0	1	0	0	0	9241	1174	41	2	432	2	MAGEB1	23	30269040	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08		30269040	125001520	137	29175											
MAGEE2	139599	broad.mit.edu	37	chrX	75004845	75004845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgccgtaatctgcagtgatCtctgcgctacagtggcgtgc	6	11	12	12	4	2	1	0	1	2	0	4	1	2	1	1	1	4	3	1	1	2	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chrX:75004845C>G	ENST00000373359.2	-	1	234	c.42G>C	c.(40-42)gaG>gaC	p.E14D		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	14										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCAGTGATCTCTGCGCTAC	0.592													20	21					0	0	0	0	G	75004845	C	G	75004845	3	3	160	1	0	0	0	0	1	0	0	0	9255	912	32	2	1533	2	MAGEE2	23	75004845	Missense_Mutation	SNP	C	TCGA-CQ-7072-01A-21D-A30E-08	44735805	75004845	80265715	138	29176											
PCDH11X	27328	broad.mit.edu	37	chrX	91873684	91873684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagctctcctctgccacaGgttattgccctccatcgtag	7	11	7	16	1	2	0	0	0	2	0	5	0	3	0	4	1	3	3	4	1	2	3			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chrX:91873684G>T	ENST00000373094.1	+	7	4634	c.3789G>T	c.(3787-3789)caG>caT	p.Q1263H	PCDH11X_ENST00000406881.1_Missense_Mutation_p.Q1255H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Q1245H|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Q1226H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Q1253H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Q1226H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1263					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTCTGCCACAGGTTATTGCCC	0.567													82	66					1.8615e-32	2.29005e-32	1	0	T	91873684	G	T	91873684	3	4	160	1	0	0	0	0	1	0	0	0	11579	991	35	4	3937	4	PCDH11X	23	91873684	Missense_Mutation	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	16868839	91873684	63396876	139	29177											
PAK3	5063	broad.mit.edu	37	chrX	110406906	110406906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtacaggaacacagatcgGcaaagaaaaaaatccaagat	20	6	8	7	1	0	3	0	0	0	3	2	4	1	4	1	2	2	2	1	2	7	2			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chrX:110406906G>A	ENST00000519681.1	+	11	1222	c.780G>A	c.(778-780)cgG>cgA	p.R260R	PAK3_ENST00000446737.1_Silent_p.R239R|PAK3_ENST00000262836.4_Silent_p.R254R|PAK3_ENST00000425146.1_Silent_p.R239R|PAK3_ENST00000360648.4_Silent_p.R275R|PAK3_ENST00000372007.4_Silent_p.R239R|PAK3_ENST00000372010.1_Silent_p.R254R|PAK3_ENST00000417227.1_Silent_p.R260R|PAK3_ENST00000518291.1_Silent_p.R275R			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	254	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ACACAGATCGGCAAAGAAAAA	0.418										TSP Lung(19;0.15)			23	58					0	0	0	0	A	110406906	G	A	110406906	2	1	160	1	0	0	0	0	0	0	0	1	11473	1190	42	4		4	PAK3	23	110406906	Silent	SNP	G	TCGA-CQ-7072-01A-21D-A30E-08	18533222	110406906	44863654	140	29178											
CLCN6	1185	broad.mit.edu	37	chr1	11888618	11888618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggagccacattcaactGtctgaacaagaggcttgcaa	12	8	10	11	0	2	2	1	1	1	1	2	3	2	3	2	2	4	2	2	2	4	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:11888618G>A	ENST00000346436.6	+	12	1110	c.1058G>A	c.(1057-1059)tGt>tAt	p.C353Y	CLCN6_ENST00000376496.3_Missense_Mutation_p.C353Y|CLCN6_ENST00000376487.3_Missense_Mutation_p.C331Y|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376492.3_Intron	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	353					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACATTCAACTGTCTGAACAAG	0.537													38	215					0	0	0	0	A	11888618	G	A	11888618	3	1	161	1	0	0	0	0	1	0	0	0	3497	1377	48	4	1114	4	CLCN6	1	11888618	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08		11888618	237362003	1	29179											
SYNC	81493	broad.mit.edu	37	chr1	33149665	33149665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtgggagcatcagcctgttCcaggctcttgggtagtagca	8	10	14	9	0	2	0	1	0	1	0	3	1	3	1	2	3	3	6	2	3	2	4			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:33149665C>T	ENST00000409190.3	-	4	1842	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	SYNC_ENST00000373484.3_Intron|RBBP4_ENST00000373493.5_3'UTR	NM_030786.2	NP_110413.2	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	462	Tail.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCAGCCTGTTCCAGGCTCTTG	0.428													48	261					0	0	0	0	T	33149665	C	T	33149665	3	4	161	1	0	0	0	0	1	0	0	0	15534	864	30	2	134	2	SYNC	1	33149665	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	21261047	33149665	216100956	2	29180											
MRPS15	64960	broad.mit.edu	37	chr1	36929427	36929427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggtttccggacgacatatCcgcgcgcggcctggaggagg	6	7	16	12	6	0	0	0	0	0	0	2	4	2	3	3	6	0	1	3	6	1	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:36929427C>T	ENST00000373116.5	-	2	316	c.155G>A	c.(154-156)gGa>gAa	p.G52E		NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	52				GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697).	translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACGACATATCCGCGCGCGGC	0.602													3	28					0	0	0	0	T	36929427	C	T	36929427	3	4	161	1	0	0	0	0	1	0	0	0	9895	855	30	2	646	2	MRPS15	1	36929427	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	3779762	36929427	212321194	3	29181											
MACF1	23499	broad.mit.edu	37	chr1	39908187	39908187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagttgttagatgctcagaGaccaataagtggagacccaa	15	8	11	7	0	1	4	1	0	0	4	1	6	1	4	2	1	1	3	2	1	4	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:39908187G>C	ENST00000564288.1	+	77	19829	c.19052G>C	c.(19051-19053)aGa>aCa	p.R6351T	MACF1_ENST00000372915.3_Missense_Mutation_p.R6250T|MACF1_ENST00000317713.7_Missense_Mutation_p.R4292T|MACF1_ENST00000567887.1_Missense_Mutation_p.R6388T|MACF1_ENST00000545844.1_Missense_Mutation_p.R4292T|MACF1_ENST00000539005.1_Missense_Mutation_p.R4162T|MACF1_ENST00000361689.2_Missense_Mutation_p.R4292T|MACF1_ENST00000289893.4_Missense_Mutation_p.R4794T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6359					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATGCTCAGAGACCAATAAGT	0.433													17	49					0	0	0	0	C	39908187	G	C	39908187	3	2	161	1	0	0	0	0	1	0	0	0	9209	942	33	2	19316	2	MACF1	1	39908187	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	2978760	39908187	209342434	4	29182											
ZCCHC11	23318	broad.mit.edu	37	chr1	52896759	52896759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgtccatcgtgagacGtgttagggattgccacaggt	8	10	14	9	2	0	1	0	1	0	1	2	3	1	2	3	2	1	1	3	2	1	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:52896759G>A	ENST00000371544.3	-	28	4896	c.4634C>T	c.(4633-4635)aCg>aTg	p.T1545M	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T1546M	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1545	Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATCGTGAGACGTGTTAGGGAT	0.512													8	53					0	0	0	0	A	52896759	G	A	52896759	3	1	161	1	0	0	0	0	1	0	0	0	17675	1145	40	1	312	1	ZCCHC11	1	52896759	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	12988572	52896759	196353862	5	29183											
CD101	9398	broad.mit.edu	37	chr1	117568409	117568409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcatcaggtggagatggagGatgcaggaatgtactggtgt	10	11	16	4	0	2	1	2	0	0	1	2	5	2	4	0	6	2	2	0	6	2	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:117568409G>A	ENST00000256652.4	+	8	2765	c.2707G>A	c.(2707-2709)Gat>Aat	p.D903N	RP11-27K13.3_ENST00000445523.1_RNA|CD101_ENST00000369470.1_Missense_Mutation_p.D903N	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	903	Ig-like C2-type 7.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGAGATGGAGGATGCAGGAAT	0.537													10	62					0	0	0	0	A	117568409	G	A	117568409	3	1	161	1	0	0	0	0	1	0	0	0	2991	1174	41	2	2737	2	CD101	1	117568409	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	64671650	117568409	131682212	6	29184											
ATP8B2	57198	broad.mit.edu	37	chr1	154303399	154303399	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttcctgttcctcctcattCtgcaggtaggtgacccatag	7	13	8	13	0	2	1	1	1	1	0	5	1	5	1	4	2	1	3	4	2	2	5			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:154303399C>G	ENST00000368489.3	+	4	298	c.298C>G	c.(298-300)Ctg>Gtg	p.L100V	ATP8B2_ENST00000368487.3_Missense_Mutation_p.L67V|ATP8B2_ENST00000341822.2_Missense_Mutation_p.L86V|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	86					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCCTCATTCTGCAGGTAGG	0.478													5	26					0	0	0	0	G	154303399	C	G	154303399	3	3	161	1	0	0	0	0	1	0	0	0	1199	912	32	2	312	2	ATP8B2	1	154303399	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	36734990	154303399	94947222	7	29185											
ARHGEF2	9181	broad.mit.edu	37	chr1	155931566	155931566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcactggggtttgggcccGagggtccatgcggttgtaga	6	9	18	8	2	0	1	0	0	0	1	1	2	1	1	2	6	1	4	2	6	1	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:155931566G>A	ENST00000368316.1	-	15	1740	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R424W|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R452W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R451W|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R453W			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	452	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTTGGGCCCGAGGGTCCATG	0.597													20	55					0	0	0	0	A	155931566	G	A	155931566	3	1	161	1	0	0	0	0	1	0	0	0	905	1057	37	1	1654	1	ARHGEF2	1	155931566	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	1628167	155931566	93319055	8	29186											
SMG7	9887	broad.mit.edu	37	chr1	183519946	183519946	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaagcagcctacccagctCtcctccaacacacaaccata	13	5	3	20	0	1	0	0	0	1	0	3	0	2	0	6	0	6	2	6	0	5	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:183519946C>G	ENST00000367537.3	+	22	3338	c.3143C>G	c.(3142-3144)tCt>tGt	p.S1048C	SMG7_ENST00000515829.2_Missense_Mutation_p.S969C|SMG7_ENST00000508461.1_Missense_Mutation_p.S1023C|SMG7_ENST00000347615.2_Missense_Mutation_p.S1015C|SMG7_ENST00000507469.1_Missense_Mutation_p.S1019C|SMG7_ENST00000456731.2_Missense_Mutation_p.S927C			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1015					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CTACCCAGCTCTCCTCCAACA	0.438													19	75					0	0	0	0	G	183519946	C	G	183519946	3	3	161	1	0	0	0	0	1	0	0	0	14886	913	32	2	3276	2	SMG7	1	183519946	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	27588380	183519946	65730675	9	29187											
CFHR4	10877	broad.mit.edu	37	chr1	196879600	196879600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggttgccaacagtccCatgcctcagtaagcaaacct	10	9	10	12	0	1	0	1	0	0	0	2	0	2	0	4	2	5	3	4	2	3	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:196879600C>T	ENST00000367416.2	+	6	1123	c.986C>T	c.(985-987)cCa>cTa	p.P329L	CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.P83L|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CCAACAGTCCCATGCCTCAGT	0.388													7	55					0	0	0	0	T	196879600	C	T	196879600	3	4	161	1	0	0	0	0	1	0	0	0	3316	609	21	4		4	CFHR4	1	196879600	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	13359654	196879600	52371021	10	29188											
PPP1R12B	4660	broad.mit.edu	37	chr1	202406976	202406976	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggcctttttaacaagccaGaagagcccaaagatgaatct	14	9	8	10	0	1	4	0	1	1	3	1	4	1	4	3	1	3	0	3	1	5	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:202406976G>C	ENST00000406302.3	+	10	1435	c.1282G>C	c.(1282-1284)Gaa>Caa	p.E428Q	PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.E428Q|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.E428Q	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	428					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TAACAAGCCAGAAGAGCCCAA	0.418													11	37					0	0	0	0	C	202406976	G	C	202406976	3	2	161	1	0	0	0	0	1	0	0	0	12431	943	33	2	1320	2	PPP1R12B	1	202406976	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	5527376	202406976	46843645	11	29189											
LRRN2	10446	broad.mit.edu	37	chr1	204588012	204588012	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacacagtcacagcggatgGggttgccgtggagacctacc	9	7	14	11	2	1	2	1	1	0	1	1	4	1	3	3	4	3	1	3	4	1	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:204588012G>C	ENST00000367175.1	-	1	3321	c.1109C>G	c.(1108-1110)cCc>cGc	p.P370R	LRRN2_ENST00000367176.3_Missense_Mutation_p.P370R|LRRN2_ENST00000367177.3_Missense_Mutation_p.P370R			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	370	LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACAGCGGATGGGGTTGCCGTG	0.632													7	51					0	0	0	0	C	204588012	G	C	204588012	3	2	161	1	0	0	0	0	1	0	0	0	9099	1232	43	4	1036	4	LRRN2	1	204588012	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	2181036	204588012	44662609	12	29190											
PIGR	5284	broad.mit.edu	37	chr1	207107783	207107783	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccgctgccttcctctcttCaactgccacatagacggctg	7	10	7	17	2	2	1	1	0	1	1	4	1	3	1	4	1	3	2	4	1	2	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:207107783C>G	ENST00000356495.4	-	6	1870	c.1687G>C	c.(1687-1689)Gaa>Caa	p.E563Q		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	563						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTCCTCTCTTCAACTGCCACA	0.597													10	39					0	0	0	0	G	207107783	C	G	207107783	3	3	161	1	0	0	0	0	1	0	0	0	11969	835	29	2	631	2	PIGR	1	207107783	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	2519771	207107783	42142838	13	29191											
PTPN14	5784	broad.mit.edu	37	chr1	214551380	214551380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagccaccgagagcccattCaatgctgccaacatcagcgg	11	5	10	15	3	2	1	2	0	0	1	2	3	2	1	4	1	6	1	4	1	2	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:214551380C>G	ENST00000366956.5	-	14	2804	c.2610G>C	c.(2608-2610)ttG>ttC	p.L870F	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	870					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AGAGCCCATTCAATGCTGCCA	0.547													15	51					0	0	0	0	G	214551380	C	G	214551380	3	3	161	1	0	0	0	0	1	0	0	0	12863	825	29	2	977	2	PTPN14	1	214551380	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	7443597	214551380	34699241	14	29192											
LYST	1130	broad.mit.edu	37	chr1	235973763	235973763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaatgtaatttttcctGagtggatctttgtgaacttg	9	19	8	5	0	2	2	0	2	2	0	3	3	3	3	1	1	1	1	1	1	4	7			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:235973763G>T	ENST00000389794.3	-	5	529	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	LYST_ENST00000536965.1_Missense_Mutation_p.Q119K|LYST_ENST00000389793.2_Missense_Mutation_p.Q119K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	119					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AATTTTTCCTGAGTGGATCTT	0.373													14	58					1.49906e-05	1.62398e-05	1	0	T	235973763	G	T	235973763	3	4	161	1	0	0	0	0	1	0	0	0	9193	1299	45	2	11246	2	LYST	1	235973763	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	21422383	235973763	13276858	15	29193											
RYR2	6262	broad.mit.edu	37	chr1	237948018	237948018	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactgttagccaacatgccaGaccccactcaggatgaggtt	12	8	9	12	0	1	2	1	1	0	1	1	3	1	3	4	2	4	2	4	2	3	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:237948018G>C	ENST00000366574.2	+	90	13323	c.13006G>C	c.(13006-13008)Gac>Cac	p.D4336H	RYR2_ENST00000360064.6_Missense_Mutation_p.D4342H|RYR2_ENST00000542537.1_Missense_Mutation_p.D4320H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4336					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACATGCCAGACCCCACTCA	0.552													10	62					0	0	0	0	C	237948018	G	C	237948018	3	2	161	1	0	0	0	0	1	0	0	0	13854	942	33	2	13364	2	RYR2	1	237948018	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	1974255	237948018	11302603	16	29194											
KIDINS220	57498	broad.mit.edu	37	chr2	8931278	8931278	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgcatggtaggctcactGagaatatctgccagggcact	9	9	13	10	0	2	1	1	1	1	1	2	2	2	1	1	4	2	5	1	4	3	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:8931278G>A	ENST00000256707.3	-	13	1534	c.1353C>T	c.(1351-1353)ctC>ctT	p.L451L	KIDINS220_ENST00000418530.1_Silent_p.L409L|KIDINS220_ENST00000319688.5_Silent_p.L452L|KIDINS220_ENST00000427284.1_Silent_p.L451L|KIDINS220_ENST00000473731.1_Silent_p.L451L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	451	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAGGCTCACTGAGAATATCTG	0.433													11	52					0	0	0	0	A	8931278	G	A	8931278	2	1	161	1	0	0	0	0	0	0	0	1	8322	1277	45	2		2	KIDINS220	2	8931278	Silent	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08		8931278	234268095	17	29195											
USP34	9736	broad.mit.edu	37	chr2	61415605	61415605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgatatttgacatgtcttCtgaaaacgaagatggaactt	13	13	8	7	1	2	4	0	3	2	1	2	6	2	5	1	1	2	0	1	1	5	4			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:61415605C>T	ENST00000398571.2	-	80	10349	c.10273G>A	c.(10273-10275)Gaa>Aaa	p.E3425K		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3425					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GACATGTCTTCTGAAAACGAA	0.393													18	77					0	0	0	0	T	61415605	C	T	61415605	3	4	161	1	0	0	0	0	1	0	0	0	17161	922	32	2	371	2	USP34	2	61415605	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	52484327	61415605	181783768	18	29196											
CCDC142	84865	broad.mit.edu	37	chr2	74709223	74709223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcctcgtccagccgacttgCcacctggcaaccccgctccc	5	6	8	22	4	0	0	0	0	0	0	3	1	2	0	8	1	3	2	8	1	1	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:74709223C>T	ENST00000393965.3	-	1	1138	c.742G>A	c.(742-744)Gca>Aca	p.A248T	CCDC142_ENST00000290418.4_Missense_Mutation_p.A248T|CCDC142_ENST00000471713.1_5'UTR	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	248										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						AGCCGACTTGCCACCTGGCAA	0.672													7	23					0	0	0	0	T	74709223	C	T	74709223	3	4	161	1	0	0	0	0	1	0	0	0	2801	739	26	4	1525	4	CCDC142	2	74709223	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	13293618	74709223	168490150	19	29197											
FER1L5	90342	broad.mit.edu	37	chr2	97370228	97370228	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatttggccatgagctggatCaaacctcaacttcagctgta	11	12	8	10	0	3	1	3	1	0	0	3	2	3	2	2	2	4	3	2	2	4	4			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:97370228C>G	ENST00000457909.1	+	0	5476							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TGAGCTGGATCAAACCTCAAC	0.488													18	119					0	0	0	0	G	97370228	C	G	97370228	1	3	161	0	1	0	0	0	0	0	0	0	5859	816	29	2		2	FER1L5	2	97370228	RNA	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	22661005	97370228	145829145	20	29198											
R3HDM1	23518	broad.mit.edu	37	chr2	136467655	136467655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccaccgccacctggtgggGggatggtgatgatgcagctc	7	7	15	12	1	0	2	0	2	0	0	1	3	0	3	4	5	2	2	4	5	0	0			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:136467655G>A	ENST00000264160.4	+	22	2855	c.2485G>A	c.(2485-2487)Ggg>Agg	p.G829R	R3HDM1_ENST00000329971.3_Missense_Mutation_p.G700R|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G701R|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G774R|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G830R	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	829							nucleic acid binding	p.G829R(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACCTGGTGGGGGGATGGTGAT	0.453											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	69					0	0	0	0	A	136467655	G	A	136467655	3	1	161	1	0	0	0	0	1	0	0	0	12969	1232	43	4	2563	4	R3HDM1	2	136467655	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	39097427	136467655	106731718	21	29199											
SCN3A	6328	broad.mit.edu	37	chr2	165994547	165994547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttttacttttaaccatgCatcacagcagtcccagatca	12	13	5	11	0	2	1	2	0	0	1	3	1	3	1	2	0	4	3	2	0	2	4			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:165994547C>A	ENST00000360093.3	-	15	2724	c.2233G>T	c.(2233-2235)Gca>Tca	p.A745S	SCN3A_ENST00000283254.7_Missense_Mutation_p.A745S|SCN3A_ENST00000409101.3_Missense_Mutation_p.A696S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	745						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTTAACCATGCATCACAGCAG	0.383													6	61					3.59834e-05	3.74227e-05	1	0	A	165994547	C	A	165994547	3	1	161	1	0	0	0	0	1	0	0	0	14005	710	25	4	3825	4	SCN3A	2	165994547	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	29526892	165994547	77204826	22	29200											
ZNF804A	91752	broad.mit.edu	37	chr2	185801399	185801399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagacaatgtgagccatttGtacctgtccttaacaaacac	15	10	6	10	0	0	2	0	1	0	1	1	2	1	2	3	0	4	1	3	0	5	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:185801399G>T	ENST00000302277.6	+	4	1870	c.1276G>T	c.(1276-1278)Gta>Tta	p.V426L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	426						intracellular	zinc ion binding	p.V426I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAGCCATTTGTACCTGTCCT	0.373													17	114					1.15088e-07	1.26434e-07	1	0	T	185801399	G	T	185801399	3	4	161	1	0	0	0	0	1	0	0	0	18263	1377	48	4	1290	4	ZNF804A	2	185801399	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	19806852	185801399	57397974	23	29201											
ATG9A	79065	broad.mit.edu	37	chr2	220091655	220091655	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctggtgcagattataaaCgtgtaattgttaagaaaaag	15	13	9	4	1	1	2	0	0	1	2	1	2	1	2	0	1	2	3	0	1	7	6			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:220091655C>T	ENST00000409618.1	-	5	587	c.147_splice	c.e5-1	p.V50_splice	ATG9A_ENST00000396761.2_Splice_Site_p.V50_splice|ATG9A_ENST00000361242.4_Splice_Site_p.V50_splice|ATG9A_ENST00000488833.1_5'UTR|ATG9A_ENST00000409422.1_5'UTR			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	50					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATTATAAACGTGTAATTGT	0.408													7	37					0	0	0	0	T	220091655	C	T	220091655	5	4	161	1	0	0	0	0	0	0	1	0	1106	550	19	1	2419	1	ATG9A	2	220091655	Splice_Site	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	34290256	220091655	23107718	24	29202											
TRIP12	9320	broad.mit.edu	37	chr2	230675762	230675762	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaacctgctggagtaaattCttcacaaacacaagaataaa	18	8	6	9	0	2	1	1	0	1	1	2	2	2	2	1	1	3	3	1	1	8	4			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:230675762C>G	ENST00000283943.5	-	14	2090		c.e14-1		TRIP12_ENST00000389045.3_Splice_Site|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Splice_Site	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGAGTAAATTCTTCACAAACA	0.363													4	36					0	0	0	0	G	230675762	C	G	230675762	5	3	161	1	0	0	0	0	0	0	1	0	16651	927	32	2	4179	2	TRIP12	2	230675762	Splice_Site	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	10584107	230675762	12523611	25	29203											
ARL8B	55207	broad.mit.edu	37	chr3	5164258	5164258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcgggcaagaccaccttCgtcaatgtcatcgcggtgag	9	9	11	12	4	2	2	2	1	0	1	5	2	2	2	2	2	1	1	2	2	3	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:5164258C>A	ENST00000256496.3	+	1	354	c.108C>A	c.(106-108)ttC>ttA	p.F36L	ARL8B_ENST00000419534.2_Missense_Mutation_p.F36L	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	36					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		AGACCACCTTCGTCAATGTCA	0.672													3	33					0.150653	0.150653	1	0	A	5164258	C	A	5164258	3	1	161	1	0	0	0	0	1	0	0	0	951	883	31	3	110	3	ARL8B	3	5164258	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08		5164258	192858172	26	29204											
DUSP7	1849	broad.mit.edu	37	chr3	52084899	52084899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtggaaaagtagagctgctCactcgacgcgtggttgtcgc	8	9	14	10	5	1	1	1	0	0	1	3	3	1	2	0	2	2	4	0	2	3	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:52084899C>T	ENST00000495880.1	-	3	1375	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	DUSP7_ENST00000296483.6_Missense_Mutation_p.E347K			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	398					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TAGAGCTGCTCACTCGACGCG	0.607													7	27					0	0	0	0	T	52084899	C	T	52084899	3	4	161	1	0	0	0	0	1	0	0	0	4866	835	29	2	71	2	DUSP7	3	52084899	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	46920641	52084899	145937531	27	29205											
FLNB	2317	broad.mit.edu	37	chr3	58111340	58111340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtgacatatgatgacGtgcctatcccaaacagtccc	11	9	10	11	1	0	3	0	3	0	0	2	4	2	4	3	2	2	0	3	2	3	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:58111340G>A	ENST00000357272.4	+	23	4096	c.3931G>A	c.(3931-3933)Gtg>Atg	p.V1311M	FLNB_ENST00000348383.5_Missense_Mutation_p.V1311M|FLNB_ENST00000295956.4_Missense_Mutation_p.V1311M|FLNB_ENST00000358537.3_Missense_Mutation_p.V1311M|FLNB_ENST00000429972.2_Missense_Mutation_p.V1311M|FLNB_ENST00000493452.1_Missense_Mutation_p.V1142M|FLNB_ENST00000490882.1_Missense_Mutation_p.V1311M|FLNB_ENST00000419752.2_Missense_Mutation_p.V1142M			O75369	FLNB_HUMAN	filamin B, beta	1311	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATATGATGACGTGCCTATCCC	0.463													8	65					0	0	0	0	A	58111340	G	A	58111340	3	1	161	1	0	0	0	0	1	0	0	0	5979	1145	40	1	4021	1	FLNB	3	58111340	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	6026441	58111340	139911090	28	29206											
MAGI1	9223	broad.mit.edu	37	chr3	65376868	65376868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagattttaaaaggatctgGttttttctggccagagctgt	9	15	10	7	0	2	2	0	0	2	2	2	3	2	3	2	3	1	2	2	3	2	5			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:65376868G>T	ENST00000330909.8	-	14	2364	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T|MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T|MAGI1_ENST00000497477.2_Missense_Mutation_p.P789T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	789					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.P789T(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAAGGATCTGGTTTTTTCTGG	0.567													19	39					7.45023e-12	8.3614e-12	1	0	T	65376868	G	T	65376868	3	4	161	1	0	0	0	0	1	0	0	0	9259	1261	44	4	2297	4	MAGI1	3	65376868	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	7265528	65376868	132645562	29	29207											
NR1I2	8856	broad.mit.edu	37	chr3	119526249	119526249	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggacaaggccactggctAtcacttcaatgtcatgacat	11	10	10	10	0	3	1	3	1	0	0	3	2	3	2	1	4	0	1	1	4	3	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:119526249A>G	ENST00000393716.2	+	2	1991	c.152A>G	c.(151-153)tAt>tGt	p.Y51C	NR1I2_ENST00000337940.4_Missense_Mutation_p.Y90C|NR1I2_ENST00000466380.1_Missense_Mutation_p.Y51C	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	51					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GCCACTGGCTATCACTTCAAT	0.537													19	92					0	0	0	0	G	119526249	A	G	119526249	3	3	161	1	0	0	0	0	1	0	0	0	10691	449	16	5	275	5	NR1I2	3	119526249	Missense_Mutation	SNP	A	TCGA-CQ-A4C6-01A-11D-A25D-08	54149381	119526249	78496181	30	29208											
FNDC3B	64778	broad.mit.edu	37	chr3	172003756	172003756	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcaagacattctttcGggaatagagaaaccacaggt	14	8	12	7	1	1	2	0	0	1	2	2	4	1	3	1	3	2	1	1	3	4	3	rs115364239	by1000genomes	TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:172003756G>A	ENST00000336824.4	+	7	930	c.831G>A	c.(829-831)tcG>tcA	p.S277S	FNDC3B_ENST00000416957.1_Silent_p.S277S|FNDC3B_ENST00000415807.2_Silent_p.S277S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	277	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACATTCTTTCGGGAATAGAGA	0.348													18	47					0	0	0	0	A	172003756	G	A	172003756	2	1	161	1	0	0	0	0	0	0	0	1	6015	1103	39	1		1	FNDC3B	3	172003756	Silent	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	52477507	172003756	26018674	31	29209											
PIK3CA	5290	broad.mit.edu	37	chr3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtatttcatgaaacaaAtgaatgatgcacatcatggt	15	12	9	5	0	2	3	2	3	0	0	2	4	2	4	0	2	2	2	0	2	4	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			23	78					0	0	0	0	G	178952072	A	G	178952072	3	3	161	1	0	0	0	0	1	0	0	0	11985	101	4	5	3205	5	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-CQ-A4C6-01A-11D-A25D-08	6948316	178952072	19070358	32	29210											
RTP4	64108	broad.mit.edu	37	chr3	187089110	187089110	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccactgaacatctgtgtCtttattttgctgcttgtatt	7	19	7	8	0	2	1	0	1	2	0	3	2	3	1	1	0	3	3	1	0	3	7			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:187089110C>A	ENST00000259030.2	+	2	800	c.690C>A	c.(688-690)gtC>gtA	p.V230V		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	230					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ACATCTGTGTCTTTATTTTGC	0.413													9	29					2.17888e-05	2.31228e-05	1	0	A	187089110	C	A	187089110	2	1	161	1	0	0	0	0	0	0	0	1	13821	900	32	2		2	RTP4	3	187089110	Silent	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	8137038	187089110	10933320	33	29211											
RBM47	54502	broad.mit.edu	37	chr4	40439899	40439899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgggctgctgcgctgcctCagccgcgccgccgcccctgg	1	6	15	19	5	1	0	1	0	0	0	1	0	1	0	6	2	4	4	6	2	0	0			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:40439899C>T	ENST00000319592.4	-	4	1721	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.E338K|RBM47_ENST00000295971.7_Missense_Mutation_p.E338K|RBM47_ENST00000514014.1_Missense_Mutation_p.E300K|RBM47_ENST00000381793.2_Missense_Mutation_p.E338K			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	338						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TGCGCTGCCTCAGCCGCGCCG	0.662													13	37					0	0	0	0	T	40439899	C	T	40439899	3	4	161	1	0	0	0	0	1	0	0	0	13223	835	29	2	785	2	RBM47	4	40439899	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08		40439899	150714377	34	29212											
COX7B2	170712	broad.mit.edu	37	chr4	46737152	46737152	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctatgtcttgccatgctttGcagaatgctttgaatcttga	8	16	9	8	0	2	3	0	2	2	1	2	3	2	3	1	0	4	4	1	0	3	5			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:46737152G>C	ENST00000396533.1	-	4	308	c.58C>G	c.(58-60)Caa>Gaa	p.Q20E	COX7B2_ENST00000355591.3_Missense_Mutation_p.Q20E|COX7B2_ENST00000543208.1_Missense_Mutation_p.Q19E|COX7B2_ENST00000302930.5_Missense_Mutation_p.Q20E			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	20						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						GCCATGCTTTGCAGAATGCTT	0.423													18	67					0	0	0	0	C	46737152	G	C	46737152	3	2	161	1	0	0	0	0	1	0	0	0	3813	1328	46	4	191	4	COX7B2	4	46737152	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	6297253	46737152	144417124	35	29213											
CNGA1	1259	broad.mit.edu	37	chr4	47939336	47939336	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaacctatgttaccaacgAtggtagcaaaaattaacact	17	10	6	8	1	0	1	0	0	0	1	0	2	0	1	2	1	5	3	2	1	9	5			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:47939336A>T	ENST00000402813.3	-	10	1524	c.1382T>A	c.(1381-1383)aTc>aAc	p.I461N	CNGA1_ENST00000358519.4_Missense_Mutation_p.I392N|CNGA1_ENST00000420489.2_Missense_Mutation_p.I392N|CNGA1_ENST00000544810.1_Missense_Mutation_p.I392N|CNGA1_ENST00000514170.1_Missense_Mutation_p.I392N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	392					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GTTACCAACGATGGTAGCAAA	0.393													18	96					0	0	0	0	T	47939336	A	T	47939336	3	4	161	1	0	0	0	0	1	0	0	0	3626	333	12	5	901	5	CNGA1	4	47939336	Missense_Mutation	SNP	A	TCGA-CQ-A4C6-01A-11D-A25D-08	1202184	47939336	143214940	36	29214											
CEP135	9662	broad.mit.edu	37	chr4	56847522	56847522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagaattatggcagaaaagGaagctttaagagaaaaatta	21	8	10	2	0	0	3	0	0	0	3	0	6	0	4	0	2	1	2	0	2	10	4			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:56847522G>A	ENST00000257287.4	+	13	1880	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	586					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GGCAGAAAAGGAAGCTTTAAG	0.338													12	95					0	0	0	0	A	56847522	G	A	56847522	3	1	161	1	0	0	0	0	1	0	0	0	3276	1175	41	2	1802	2	CEP135	4	56847522	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	8908186	56847522	134306754	37	29215											
POLR2B	5431	broad.mit.edu	37	chr4	57871560	57871560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaagaaatgctccctcAtgttggtgtcagtgattttt	12	14	8	7	0	2	2	2	1	0	1	3	2	3	2	1	1	1	2	1	1	3	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:57871560A>G	ENST00000381227.1	+	9	1462	c.1049A>G	c.(1048-1050)cAt>cGt	p.H350R	POLR2B_ENST00000431623.2_Missense_Mutation_p.H275R|POLR2B_ENST00000314595.5_Missense_Mutation_p.H350R|POLR2B_ENST00000441246.2_Missense_Mutation_p.H343R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	350					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATGCTCCCTCATGTTGGTGTC	0.333													16	64					0	0	0	0	G	57871560	A	G	57871560	3	3	161	1	0	0	0	0	1	0	0	0	12287	217	8	5	1079	5	POLR2B	4	57871560	Missense_Mutation	SNP	A	TCGA-CQ-A4C6-01A-11D-A25D-08	1024038	57871560	133282716	38	29216											
CXCL5	6374	broad.mit.edu	37	chr4	74863796	74863796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaagacaaatttccttccCgttcttcagggaggctctga	10	12	8	11	1	4	2	2	1	2	1	6	3	6	3	2	2	0	2	2	2	2	4			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:74863796C>T	ENST00000296027.4	-	3	456	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	87					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ATTTCCTTCCCGTTCTTCAGG	0.433													10	65					0	0	0	0	T	74863796	C	T	74863796	3	4	161	1	0	0	0	0	1	0	0	0	4119	652	23	1	93	1	CXCL5	4	74863796	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	16992236	74863796	116290480	39	29217											
CCNG2	901	broad.mit.edu	37	chr4	78079685	78079685	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtggtgtctttactgcaGatgaaggatttgggggcaga	8	13	16	4	0	1	3	0	1	1	2	1	4	1	4	0	4	2	2	0	4	2	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:78079685G>C	ENST00000316355.5	+	2	356		c.e2-1		CCNG2_ENST00000497512.1_Splice_Site|CCNG2_ENST00000354403.5_Splice_Site|CCNG2_ENST00000395640.1_5'UTR|CCNG2_ENST00000509972.1_5'UTR|CCNG2_ENST00000502280.1_Splice_Site	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2						cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTACTGCAGATGAAGGATT	0.547													13	79					0	0	0	0	C	78079685	G	C	78079685	5	2	161	1	0	0	0	0	0	0	1	0	2953	956	33	2	2	2	CCNG2	4	78079685	Splice_Site	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	3215889	78079685	113074591	40	29218											
GK2	2712	broad.mit.edu	37	chr4	80327777	80327777	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaaaggcagactagagaaGatagaaggatcaccaccttc	16	5	9	11	0	1	4	1	0	0	4	2	6	1	5	3	2	0	1	3	2	5	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:80327777G>A	ENST00000358842.3	-	1	1595	c.1578C>T	c.(1576-1578)atC>atT	p.I526I		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	526					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GACTAGAGAAGATAGAAGGAT	0.423													10	50					0	0	0	0	A	80327777	G	A	80327777	2	1	161	1	0	0	0	0	0	0	0	1	6472	932	33	2		2	GK2	4	80327777	Silent	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	2248092	80327777	110826499	41	29219											
OTUD4	54726	broad.mit.edu	37	chr4	146059380	146059380	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggtgcaataggaactggGcctaagaatggattgggtcc	11	8	16	6	0	0	1	0	0	0	1	1	4	1	4	2	6	2	1	2	6	5	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:146059380G>A	ENST00000454497.2	-	21	2489	c.2352C>T	c.(2350-2352)ggC>ggT	p.G784G	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.G849G	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	848							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TAGGAACTGGGCCTAAGAATG	0.463													4	54					0	0	0	0	A	146059380	G	A	146059380	2	1	161	1	0	0	0	0	0	0	0	1	11385	1190	42	4		4	OTUD4	4	146059380	Silent	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	65731603	146059380	45094896	42	29220											
TAS2R1	50834	broad.mit.edu	37	chr5	9629959	9629959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaatcacattaacgtagaaGatgaacaactgcagaaaaat	21	7	6	7	1	1	4	1	1	0	3	1	4	1	4	0	0	4	2	0	0	8	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:9629959G>A	ENST00000382492.2	-	1	504	c.186C>T	c.(184-186)atC>atT	p.I62I	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	62					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TAACGTAGAAGATGAACAACT	0.368													7	48					0	0	0	0	A	9629959	G	A	9629959	2	1	161	1	0	0	0	0	0	0	0	1	15656	932	33	2		2	TAS2R1	5	9629959	Silent	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08		9629959	171285301	43	29221											
BRIX1	55299	broad.mit.edu	37	chr5	34925420	34925420	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaactgagaaagaaagagccGaagactcttcttccacatga	17	7	8	9	1	2	5	0	2	2	4	3	7	3	5	2	0	2	0	2	0	4	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:34925420G>A	ENST00000336767.5	+	10	1245	c.882G>A	c.(880-882)ccG>ccA	p.P294P	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	294					ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AGAAAGAGCCGAAGACTCTTC	0.408													6	32					0	0	0	0	A	34925420	G	A	34925420	2	1	161	1	0	0	0	0	0	0	0	1	1523	1045	37	1		1	BRIX1	5	34925420	Silent	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	25295461	34925420	145989840	44	29222											
UGT3A1	133688	broad.mit.edu	37	chr5	35991265	35991265	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacccagtgtagatattgtCaggattttggcagcctctga	9	13	10	9	0	3	2	2	1	1	1	3	3	3	3	2	2	1	2	2	2	2	5			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:35991265C>T	ENST00000274278.3	-	1	435	c.78G>A	c.(76-78)ctG>ctA	p.L26L	UGT3A1_ENST00000503189.1_Silent_p.L26L|UGT3A1_ENST00000507113.1_Silent_p.L26L|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000333811.4_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	26						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)			TAGATATTGTCAGGATTTTGG	0.597													16	80					0	0	0	0	T	35991265	C	T	35991265	2	4	161	1	0	0	0	0	0	0	0	1	17059	813	29	2		2	UGT3A1	5	35991265	Silent	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	1065845	35991265	144923995	45	29223											
GZMA	3001	broad.mit.edu	37	chr5	54403740	54403740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctatgacccagccacacgcGaaggtgaccttaaactttta	12	9	8	12	2	0	2	0	2	0	0	0	3	0	2	3	1	2	1	3	1	5	4			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:54403740G>A	ENST00000274306.6	+	3	369	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	112	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AGCCACACGCGAAGGTGACCT	0.438													16	72					0	0	0	0	A	54403740	G	A	54403740	3	1	161	1	0	0	0	0	1	0	0	0	6965	1059	37	1	344	1	GZMA	5	54403740	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	18412475	54403740	126511520	46	29224											
GPR98	84059	broad.mit.edu	37	chr5	89924618	89924618	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctgcctcatacaatacGaggaggtgcagaagtgagcg	13	8	12	8	2	2	2	1	1	1	1	2	4	2	3	1	2	5	1	1	2	5	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:89924618G>T	ENST00000405460.2	+	8	1574	c.1478G>T	c.(1477-1479)cGa>cTa	p.R493L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	493					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.R493Q(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATACAATACGAGGAGGTGCA	0.428													10	32					2.17888e-05	2.31228e-05	1	0	T	89924618	G	T	89924618	3	4	161	1	0	0	0	0	1	0	0	0	6771	1058	37	3	1508	3	GPR98	5	89924618	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	35520878	89924618	90990642	47	29225											
C5orf15	56951	broad.mit.edu	37	chr5	133295357	133295357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttccaaggtgtcatcaGactcgtcgtcgtccctgggg	5	13	11	12	3	3	1	2	0	1	1	8	1	5	1	2	3	0	0	2	3	1	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:133295357G>A	ENST00000231512.3	-	2	696	c.494C>T	c.(493-495)tCt>tTt	p.S165F	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	165						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			GGTGTCATCAGACTCGTCGTC	0.468													13	50					0	0	0	0	A	133295357	G	A	133295357	3	1	161	1	0	0	0	0	1	0	0	0	2304	942	33	2	311	2	C5orf15	5	133295357	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	43370739	133295357	47619903	48	29226											
PCDHB5	26167	broad.mit.edu	37	chr5	140516912	140516912	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggctgctgagcgagcgCgacgcggccaagcacaggct	8	3	16	14	5	0	1	0	1	0	0	0	3	0	1	2	3	4	4	2	3	1	0			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:140516912C>T	ENST00000231134.5	+	1	2113	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		632	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCGGCCA	0.692													17	82					0	0	0	0	T	140516912	C	T	140516912	2	4	161	1	0	0	0	0	0	0	0	1	11616	755	27	1		1	PCDHB5	5	140516912	Silent	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	7221555	140516912	40398348	49	29227											
PCDH1	5097	broad.mit.edu	37	chr5	141248258	141248258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagggcactgctggcgCgtggggggctgccgccatcc	4	5	18	14	3	0	0	0	0	0	0	1	0	1	0	3	5	3	5	3	5	0	0			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:141248258C>T	ENST00000287008.3	-	2	926	c.779G>A	c.(778-780)cGc>cAc	p.R260H	PCDH1_ENST00000503492.1_Missense_Mutation_p.R260H|PCDH1_ENST00000456271.1_Missense_Mutation_p.R248H|PCDH1_ENST00000536585.1_Missense_Mutation_p.R238H|PCDH1_ENST00000394536.3_Missense_Mutation_p.R260H	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	260	Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACTGCTGGCGCGTGGGGGGCT	0.602													9	29					0	0	0	0	T	141248258	C	T	141248258	3	4	161	1	0	0	0	0	1	0	0	0	11577	768	27	1	3034	1	PCDH1	5	141248258	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	731346	141248258	39667002	50	29228											
WWC1	23286	broad.mit.edu	37	chr5	167849068	167849068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaactggaggaagccaccCggcaggtggcaactctgcac	11	4	14	12	1	1	1	0	0	1	1	1	4	1	3	2	5	4	3	2	5	3	0			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:167849068C>T	ENST00000265293.4	+	10	1742	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W	WWC1_ENST00000521089.1_Missense_Mutation_p.R414W	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	414					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGAAGCCACCCGGCAGGTGGC	0.572													10	63					0	0	0	0	T	167849068	C	T	167849068	3	4	161	1	0	0	0	0	1	0	0	0	17507	643	23	1	1278	1	WWC1	5	167849068	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	26600810	167849068	13066192	51	29229											
FOXI1	2299	broad.mit.edu	37	chr5	169535073	169535073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagggaattactggaccCtggaccccaactgtgagaaa	14	6	11	10	0	0	1	0	1	0	1	0	5	0	4	3	3	2	1	3	3	5	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:169535073C>G	ENST00000306268.6	+	2	656	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	199					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTACTGGACCCTGGACCCCAA	0.428									Pendred syndrome				11	37					0	0	0	0	G	169535073	C	G	169535073	3	3	161	1	0	0	0	0	1	0	0	0	6056	680	24	4	601	4	FOXI1	5	169535073	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	1686005	169535073	11380187	52	29230											
DSP	1832	broad.mit.edu	37	chr6	7574933	7574933	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaggctattctccaaacaGaagacatgttaaaggtttat	14	12	7	8	0	1	2	0	0	1	2	3	2	2	2	2	2	1	3	2	2	6	5			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:7574933G>C	ENST00000379802.3	+	17	2682	c.2341G>C	c.(2341-2343)Gaa>Caa	p.E781Q	DSP_ENST00000418664.2_Missense_Mutation_p.E781Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	781	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTCCAAACAGAAGACATGTT	0.453													16	54					0	0	0	0	C	7574933	G	C	7574933	3	2	161	1	0	0	0	0	1	0	0	0	4817	943	33	2	2407	2	DSP	6	7574933	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08		7574933	163540134	53	29231											
HLA-C	3107	broad.mit.edu	37	chr6	31239532	31239532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctctcggactcgcggcgtCgctgtcgaaccgcacgaact	6	7	11	17	8	1	0	0	0	1	0	5	3	1	1	2	2	2	2	2	2	2	0	rs41543115		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:31239532C>T	ENST00000383329.3	-	2	201	c.187G>A	c.(187-189)Gac>Aac	p.D63N	HLA-C_ENST00000376228.5_Missense_Mutation_p.D63N			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	63	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CTCGCGGCGTCGCTGTCGAAC	0.687													8	54					0	0	0	0	T	31239532	C	T	31239532	3	4	161	1	0	0	0	0	1	0	0	0	7247	884	31	1	941	1	HLA-C	6	31239532	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	23664599	31239532	139875535	54	29232											
FRS3	10817	broad.mit.edu	37	chr6	41738461	41738461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccacggtctttttgaggtCaatcacggcgtaggagtctg	7	11	14	9	3	4	1	2	1	2	0	4	2	4	2	1	5	0	1	1	5	2	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:41738461C>G	ENST00000373018.3	-	7	1626	c.1375G>C	c.(1375-1377)Gac>Cac	p.D459H	FRS3_ENST00000259748.2_Missense_Mutation_p.D459H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	459					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTTTTGAGGTCAATCACGGCG	0.652													14	73					0	0	0	0	G	41738461	C	G	41738461	3	3	161	1	0	0	0	0	1	0	0	0	6110	826	29	2	107	2	FRS3	6	41738461	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	10498929	41738461	129376606	55	29233											
FRS3	10817	broad.mit.edu	37	chr6	41738629	41738629	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggccccggccggcggaaatCaaagttgaagacccttgggg	9	5	16	11	3	1	2	1	1	0	1	1	3	1	3	4	6	0	1	4	6	3	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:41738629C>G	ENST00000373018.3	-	7	1458	c.1207G>C	c.(1207-1209)Gat>Cat	p.D403H	FRS3_ENST00000259748.2_Missense_Mutation_p.D403H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	403					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGGCGGAAATCAAAGTTGAAG	0.677													9	47					0	0	0	0	G	41738629	C	G	41738629	3	3	161	1	0	0	0	0	1	0	0	0	6110	826	29	2	275	2	FRS3	6	41738629	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	168	41738629	129376438	56	29234											
IMPG1	3617	broad.mit.edu	37	chr6	76744439	76744439	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgctgacccagtcctgatAttcccctgtgtcagggatgc	7	11	11	12	0	1	2	1	2	0	0	3	4	3	3	4	1	2	1	4	1	1	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:76744439A>G	ENST00000369963.3	-	2	322	c.133T>C	c.(133-135)Tat>Cat	p.Y45H	IMPG1_ENST00000369950.3_Missense_Mutation_p.Y123H			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	123					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CAGTCCTGATATTCCCCTGTG	0.493													12	52					0	0	0	0	G	76744439	A	G	76744439	3	3	161	1	0	0	0	0	1	0	0	0	7781	449	16	5	2086	5	IMPG1	6	76744439	Missense_Mutation	SNP	A	TCGA-CQ-A4C6-01A-11D-A25D-08	35005810	76744439	94370628	57	29235											
RPF2	84154	broad.mit.edu	37	chr6	111306267	111306267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagagaaccgaaactcaatGaaaatattaaaaatgccatg	21	7	7	6	1	1	3	1	1	0	2	1	5	1	3	2	0	3	0	2	0	9	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:111306267G>A	ENST00000441448.2	+	2	174	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	28						nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						GAAACTCAATGAAAATATTAA	0.323													32	93					0	0	0	0	A	111306267	G	A	111306267	3	1	161	1	0	0	0	0	1	0	0	0	13632	1291	45	2	88	2	RPF2	6	111306267	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	34561828	111306267	59808800	58	29236											
MAP3K4	4216	broad.mit.edu	37	chr6	161470317	161470317	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaaagattgtaggttactCaacacatcatgagcatctcc	15	10	6	10	0	3	2	2	1	1	1	4	2	3	2	1	1	4	3	1	1	5	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:161470317C>G	ENST00000392142.4	+	3	1161	c.1013C>G	c.(1012-1014)tCa>tGa	p.S338*	MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.S338*|MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.S338*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.S338*	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	338					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GTAGGTTACTCAACACATCAT	0.443													10	66					0	0	0	0	G	161470317	C	G	161470317	4	3	161	1	0	0	0	0	0	1	0	0	9321	838	29	2	1023	2	MAP3K4	6	161470317	Nonsense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	50164050	161470317	9644750	59	29237											
DPY19L1	23333	broad.mit.edu	37	chr7	35009087	35009087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaaactgccaaggaagcatGaaaaatacattggaaatgca	19	6	9	7	0	0	1	0	1	0	0	0	3	0	3	1	2	5	3	1	2	7	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:35009087G>C	ENST00000310974.4	-	9	897	c.753C>G	c.(751-753)ttC>ttG	p.F251L	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	251						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAGGAAGCATGAAAAATACAT	0.343													4	26					0	0	0	0	C	35009087	G	C	35009087	3	2	161	1	0	0	0	0	1	0	0	0	4776	1281	45	2	1330	2	DPY19L1	7	35009087	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08		35009087	124129576	60	29238											
ZNF716	441234	broad.mit.edu	37	chr7	57522853	57522853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagaatataaagagaaatGagatggtagccaaacaccca	19	5	8	9	0	0	3	0	1	0	3	0	5	0	3	3	1	2	1	3	1	7	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:57522853G>A	ENST00000420713.1	+	3	353	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAAGAGAAATGAGATGGTAGC	0.408													8	59					0	0	0	0	A	57522853	G	A	57522853	3	1	161	1	0	0	0	0	1	0	0	0	18214	1291	45	2	251	2	ZNF716	7	57522853	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	22513766	57522853	101615810	61	29239											
RELN	5649	broad.mit.edu	37	chr7	103197439	103197439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaccgttattataaggttGccagagtctgaatcttgtag	10	16	9	6	1	2	2	0	1	2	1	2	2	2	2	2	1	2	3	2	1	6	8			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:103197439G>T	ENST00000428762.1	-	38	5941	c.5782C>A	c.(5782-5784)Caa>Aaa	p.Q1928K	RELN_ENST00000343529.5_Missense_Mutation_p.Q1928K|RELN_ENST00000424685.2_Missense_Mutation_p.Q1928K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1928					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTATAAGGTTGCCAGAGTCTG	0.383													23	121					3.08376e-08	3.43619e-08	1	0	T	103197439	G	T	103197439	3	4	161	1	0	0	0	0	1	0	0	0	13302	1328	46	4	4712	4	RELN	7	103197439	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	45674586	103197439	55941224	62	29240											
CFTR	1080	broad.mit.edu	37	chr7	117171067	117171067	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcataggcttatgccttCtctttattgtgaggacactg	8	15	10	8	0	1	1	0	1	1	0	2	2	1	2	1	3	1	2	1	3	4	7			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:117171067C>A	ENST00000003084.6	+	4	520	c.388C>A	c.(388-390)Ctc>Atc	p.L130I	CFTR_ENST00000454343.1_Missense_Mutation_p.L130I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	130	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTTATGCCTTCTCTTTATTGT	0.423									Cystic Fibrosis				5	38					3.59834e-05	3.74227e-05	1	0	A	117171067	C	A	117171067	3	1	161	1	0	0	0	0	1	0	0	0	3323	913	32	2	402	2	CFTR	7	117171067	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	13973628	117171067	41967596	63	29241											
CADPS2	93664	broad.mit.edu	37	chr7	122000987	122000987	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcattcaaatacttacagtGaatgacagaatggatgaaaa	18	10	7	6	0	2	4	2	3	0	1	2	5	2	5	0	1	2	0	0	1	7	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:122000987G>C	ENST00000334010.7	-	24	3883	c.3462C>G	c.(3460-3462)ttC>ttG	p.F1154L	RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000449022.2_Missense_Mutation_p.F1156L|CADPS2_ENST00000412584.2_Missense_Mutation_p.F1115L|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.F1115L|RP5-1101C3.1_ENST00000602199.1_RNA|RP5-1101C3.1_ENST00000482375.1_RNA|RP5-1101C3.1_ENST00000602012.1_RNA	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1156					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TACTTACAGTGAATGACAGAA	0.333													3	17					0	0	0	0	C	122000987	G	C	122000987	3	2	161	1	0	0	0	0	1	0	0	0	2596	1281	45	2	442	2	CADPS2	7	122000987	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	4829920	122000987	37137676	64	29242											
EN2	2020	broad.mit.edu	37	chr7	155255189	155255189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccaacaggtacctgaCggagcagcggcgccagagcc	11	2	13	15	3	0	3	0	1	0	2	0	4	0	4	5	3	5	2	5	3	2	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:155255189C>T	ENST00000297375.4	+	2	1058	c.809C>T	c.(808-810)aCg>aTg	p.T270M		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	270						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTACCTGACGGAGCAGCGG	0.602													16	69					0	0	0	0	T	155255189	C	T	155255189	3	4	161	1	0	0	0	0	1	0	0	0	5148	536	19	1	815	1	EN2	7	155255189	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	33254202	155255189	3883474	65	29243											
PLAG1	5324	broad.mit.edu	37	chr8	57079223	57079223	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgccaccttgtaactccAtcaggtaactctcaatttcc	10	11	5	15	1	2	0	2	0	1	0	5	0	4	0	4	1	2	3	4	1	3	4			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr8:57079223A>C	ENST00000316981.3	-	5	1561	c.1082T>G	c.(1081-1083)aTg>aGg	p.M361R	PLAG1_ENST00000429357.2_Missense_Mutation_p.M361R|PLAG1_ENST00000423799.2_Missense_Mutation_p.M279R	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	361	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TTGTAACTCCATCAGGTAACT	0.438			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								31	147					0	0	0	0	C	57079223	A	C	57079223	3	2	161	1	0	0	0	0	1	0	0	0	12090	217	8	5	424	5	PLAG1	8	57079223	Missense_Mutation	SNP	A	TCGA-CQ-A4C6-01A-11D-A25D-08		57079223	89284799	66	29244											
PSKH2	85481	broad.mit.edu	37	chr8	87081717	87081717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggaagcgagccacctgtatCctctgcgccgcctgggccgc	5	6	13	17	5	1	0	0	0	1	0	2	2	2	1	6	2	3	1	6	2	2	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr8:87081717C>A	ENST00000276616.2	-	1	209	c.135G>T	c.(133-135)agG>agT	p.R45S	PSKH2_ENST00000517981.1_Intron	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	45							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CCACCTGTATCCTCTGCGCCG	0.677													17	16					1.15088e-07	1.26434e-07	1	0	A	87081717	C	A	87081717	3	1	161	1	0	0	0	0	1	0	0	0	12744	854	30	2	1032	2	PSKH2	8	87081717	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	30002494	87081717	59282305	67	29245											
VPS13B	157680	broad.mit.edu	37	chr8	100829940	100829940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actagaaaacaatgaactgaCggagctgtgtgtgaaggcca	15	7	12	7	1	0	4	0	3	0	1	0	5	0	5	1	2	3	1	1	2	6	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr8:100829940C>T	ENST00000358544.2	+	45	8456	c.8345C>T	c.(8344-8346)aCg>aTg	p.T2782M	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.T2757M	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2782					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATGAACTGACGGAGCTGTGT	0.448													17	73					0	0	0	0	T	100829940	C	T	100829940	3	4	161	1	0	0	0	0	1	0	0	0	17286	536	19	1	8713	1	VPS13B	8	100829940	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	13748223	100829940	45534082	68	29246											
EIF3H	8667	broad.mit.edu	37	chr8	117668241	117668241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtgatatttgcttttttCaatctgtgaagcatgttaaa	12	17	8	4	0	2	2	1	2	1	0	2	2	2	2	0	1	2	3	0	1	6	6			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr8:117668241C>G	ENST00000521861.1	-	5	584	c.561G>C	c.(559-561)ttG>ttC	p.L187F	EIF3H_ENST00000276682.4_Missense_Mutation_p.L201F	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	187					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					TTGCTTTTTTCAATCTGTGAA	0.328													21	68					0	0	0	0	G	117668241	C	G	117668241	3	3	161	1	0	0	0	0	1	0	0	0	5056	825	29	2	513	2	EIF3H	8	117668241	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	16838301	117668241	28695781	69	29247											
COL22A1	169044	broad.mit.edu	37	chr8	139629162	139629162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaggcgcccacttacccgggGaccgggtgcaccagaatcgc	8	4	14	15	4	0	1	0	0	0	1	1	3	0	2	4	4	2	1	4	4	2	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr8:139629162G>A	ENST00000303045.6	-	54	4311	c.3865C>T	c.(3865-3867)Ccc>Tcc	p.P1289S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1269S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1289	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTACCCGGGGACCGGGTGCA	0.582										HNSCC(7;0.00092)			11	70					0	0	0	0	A	139629162	G	A	139629162	3	1	161	1	0	0	0	0	1	0	0	0	3711	1174	41	2	1063	2	COL22A1	8	139629162	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	21960921	139629162	6734860	70	29248											
GLIS3	169792	broad.mit.edu	37	chr9	3856103	3856103	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgggtatagggaggCtgtgttctttgcagtattga	6	14	16	5	0	1	1	0	1	1	0	1	2	1	2	0	4	2	7	0	4	3	6			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:3856103C>T	ENST00000324333.10	-	8	2107	c.1914G>A	c.(1912-1914)caG>caA	p.Q638Q	GLIS3_ENST00000381971.3_Silent_p.Q793Q|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	638					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TATAGGGAGGCTGTGTTCTTT	0.468													18	34					0	0	0	0	T	3856103	C	T	3856103	2	4	161	1	0	0	0	0	0	0	0	1	6498	796	28	4		4	GLIS3	9	3856103	Silent	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08		3856103	137357328	71	29249											
CDKN2A	1029	broad.mit.edu	37	chr9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgtgtccaggaagccctCccgggcagcgtcgtgcacgg	6	5	15	15	5	0	0	0	0	0	0	3	1	2	1	3	3	4	2	3	3	1	0	rs121913384		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:21971096C>A	ENST00000304494.5	-	2	532	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	30					7.48243e-07	8.16265e-07	1	0	A	21971096	C	A	21971096	4	1	161	1	0	0	0	0	0	1	0	0	3190	864	30	2	216	2	CDKN2A	9	21971096	Nonsense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	18114993	21971096	119242335	72	29250			1	41		2	2	25	N	G_C	9.22536e-05
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	22					0	0	0	0	A	21971120	G	A	21971120	4	1	161	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	24	21971120	119242311	73	29251			1	41		2	2	25	N	G_C	9.22536e-05
PLAA	9373	broad.mit.edu	37	chr9	26935110	26935110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accggtggcaattaggccatGagggtagatgtcacttgagg	10	9	15	7	1	1	3	1	2	0	1	1	3	1	3	2	5	0	2	2	5	3	3	rs145543530		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:26935110G>A	ENST00000397292.3	-	2	661	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	PLAA_ENST00000520884.1_Missense_Mutation_p.H82Y	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	82					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ATTAGGCCATGAGGGTAGATG	0.418													16	81					0	0	0	0	A	26935110	G	A	26935110	3	1	161	1	0	0	0	0	1	0	0	0	12083	1290	45	2	2195	2	PLAA	9	26935110	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	4963990	26935110	114278321	74	29252											
ZBTB26	57684	broad.mit.edu	37	chr9	125681358	125681358	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	taaatggttggcgtagttctCcaggtgacgaaacaccctgg	10	10	12	9	2	1	1	0	1	1	0	2	2	1	1	2	4	1	3	2	4	4	4			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:125681358C>G	ENST00000373656.3	-	2	929	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	ZBTB26_ENST00000373654.1_Missense_Mutation_p.E286Q	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GCGTAGTTCTCCAGGTGACGA	0.473													20	139					0	0	0	0	G	125681358	C	G	125681358	3	3	161	1	0	0	0	0	1	0	0	0	17628	864	30	2	473	2	ZBTB26	9	125681358	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	98746248	125681358	15532073	75	29253											
NOTCH1	4851	broad.mit.edu	37	chr9	139412282	139412282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacgggttcgagacgcactCgttgacgtcgatctcgcatc	7	9	12	13	7	1	2	0	1	1	1	6	4	1	2	0	1	0	5	0	1	0	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:139412282C>T	ENST00000277541.6	-	8	1438	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	455	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGACGCACTCGTTGACGTCG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			39	59					0	0	0	0	T	139412282	C	T	139412282	3	4	161	1	0	0	0	0	1	0	0	0	10617	893	31	1	6412	1	NOTCH1	9	139412282	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	13730924	139412282	1801149	76	29254											
PFKFB3	5209	broad.mit.edu	37	chr10	6261636	6261636	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaagccagctaccagcccctCgaccccgacaaatgcgacag	12	3	9	17	3	0	0	0	0	0	0	1	4	0	0	6	0	5	1	6	0	3	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:6261636C>G	ENST00000379775.4	+	7	933	c.603C>G	c.(601-603)ctC>ctG	p.L201L	PFKFB3_ENST00000379785.1_Silent_p.L201L|PFKFB3_ENST00000379789.4_Silent_p.L181L|PFKFB3_ENST00000360521.2_Silent_p.L201L|PFKFB3_ENST00000540253.1_Silent_p.L215L|PFKFB3_ENST00000317350.4_Silent_p.L201L|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379782.3_Silent_p.L201L	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	201	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						ACCAGCCCCTCGACCCCGACA	0.512													10	56					0	0	0	0	G	6261636	C	G	6261636	2	3	161	1	0	0	0	0	0	0	0	1	11834	871	31	3		3	PFKFB3	10	6261636	Silent	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08		6261636	129273111	77	29255											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406500	75406500	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggtgccctgccccaggcctCcacacatgagcttgcaatcc	7	8	9	17	0	0	1	0	1	0	0	2	1	2	1	6	2	4	2	6	2	1	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:75406500C>G	ENST00000394810.2	-	4	3059	c.2910G>C	c.(2908-2910)tgG>tgC	p.W970C	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.W746C|SYNPO2L_ENST00000372872.4_Intron	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	970						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CCCCAGGCCTCCACACATGAG	0.597													18	73					0	0	0	0	G	75406500	C	G	75406500	3	3	161	1	0	0	0	0	1	0	0	0	15549	856	30	2	27	2	SYNPO2L	10	75406500	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	69144864	75406500	60128247	78	29256											
GRID1	2894	broad.mit.edu	37	chr10	87614258	87614258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcctgaggcttaccttgcGcatgtctttgccaaaagtct	8	12	10	11	1	2	1	0	1	2	0	2	2	2	1	3	1	4	2	3	1	3	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:87614258G>A	ENST00000327946.7	-	8	1313	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	410						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R410S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTTACCTTGCGCATGTCTTTG	0.512										Multiple Myeloma(13;0.14)			6	52					0	0	0	0	A	87614258	G	A	87614258	3	1	161	1	0	0	0	0	1	0	0	0	6821	1087	38	1	1837	1	GRID1	10	87614258	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	12207758	87614258	47920489	79	29257											
SORCS3	22986	broad.mit.edu	37	chr10	106899195	106899195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctactacgtgtcttatcGaagagaggcctttgctcaga	10	11	10	10	2	2	2	1	0	1	2	3	4	2	2	1	1	4	2	1	1	4	4			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:106899195G>A	ENST00000369701.3	+	8	1480	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	418						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGTCTTATCGAAGAGAGGCC	0.502													19	65					0	0	0	0	A	106899195	G	A	106899195	3	1	161	1	0	0	0	0	1	0	0	0	15020	1058	37	1	1283	1	SORCS3	10	106899195	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	19284937	106899195	28635552	80	29258											
PNLIP	5406	broad.mit.edu	37	chr10	118327287	118327287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccgtcagggaggaagttCtgctcaccctcacaccgtgt	10	8	10	13	2	4	0	3	0	1	0	4	2	4	2	3	2	2	2	3	2	2	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:118327287C>A	ENST00000369221.2	+	13	1403	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	459	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.L459M(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	GGAGGAAGTTCTGCTCACCCT	0.433													8	47					2.17888e-05	2.31228e-05	1	0	A	118327287	C	A	118327287	3	1	161	1	0	0	0	0	1	0	0	0	12221	912	32	2	1421	2	PNLIP	10	118327287	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	11428092	118327287	17207460	81	29259											
PDZD8	118987	broad.mit.edu	37	chr10	119134268	119134268	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcacgagccggatggtcttGatgaagggcaccgtctcgcc	7	7	14	13	5	2	2	0	2	2	0	3	4	2	3	3	3	1	2	3	3	1	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:119134268G>A	ENST00000334464.5	-	1	710	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	157					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GGATGGTCTTGATGAAGGGCA	0.721													7	26					0	0	0	0	A	119134268	G	A	119134268	2	1	161	1	0	0	0	0	0	0	0	1	11776	1280	45	2		2	PDZD8	10	119134268	Silent	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	806981	119134268	16400479	82	29260											
CCKBR	887	broad.mit.edu	37	chr11	6292155	6292155	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaagctggaaatggagttGagctgggagcggaggtcagg	11	6	20	4	1	1	1	1	1	0	0	1	6	1	6	0	7	3	3	0	7	2	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr11:6292155G>C	ENST00000525462.1	+	4	936	c.933G>C	c.(931-933)ttG>ttC	p.L311F	CCKBR_ENST00000532396.1_Intron|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000334619.2_Intron			P32239	GASR_HUMAN	cholecystokinin B receptor	266					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAATGGAGTTGAGCTGGGAGC	0.612													6	22					0	0	0	0	C	6292155	G	C	6292155	3	2	161	1	0	0	0	0	1	0	0	0	2908	1305	45	2		2	CCKBR	11	6292155	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08		6292155	128714361	83	29261											
DBX1	120237	broad.mit.edu	37	chr11	20178646	20178646	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgggcttgctgatgtacttCtgcttctggaacatcttctc	5	16	9	11	1	4	1	0	1	4	0	6	2	4	2	0	2	4	4	0	2	2	5			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr11:20178646C>T	ENST00000524983.2	-	3	897	c.609G>A	c.(607-609)caG>caA	p.Q203Q	DBX1_ENST00000227256.3_Silent_p.Q203Q			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	203					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TGATGTACTTCTGCTTCTGGA	0.672													4	28					0	0	0	0	T	20178646	C	T	20178646	2	4	161	1	0	0	0	0	0	0	0	1	4292	912	32	2		2	DBX1	11	20178646	Silent	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	13886491	20178646	114827870	84	29262											
SLC35C1	55343	broad.mit.edu	37	chr11	45827445	45827445	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggcagaggccaacggggaGaagccctttctgctgcgggc	8	5	17	11	2	1	2	0	0	1	2	1	4	1	2	2	5	4	2	2	5	2	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr11:45827445G>A	ENST00000314134.3	+	1	1489	c.93G>A	c.(91-93)gaG>gaA	p.E31E	SLC35C1_ENST00000442528.2_Silent_p.E18E|SLC35C1_ENST00000456334.1_Silent_p.E18E	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	31						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CCAACGGGGAGAAGCCCTTTC	0.602													13	74					0	0	0	0	A	45827445	G	A	45827445	2	1	161	1	0	0	0	0	0	0	0	1	14667	933	33	2		2	SLC35C1	11	45827445	Silent	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	25648799	45827445	89179071	85	29263											
FADD	8772	broad.mit.edu	37	chr11	70052566	70052566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaactcagacgcatctacctCcgaagcgtcctgatgggccg	9	7	11	14	4	2	2	1	1	1	1	4	4	4	2	4	1	3	1	4	1	3	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr11:70052566C>A	ENST00000301838.4	+	2	911	c.614C>A	c.(613-615)tCc>tAc	p.S205Y	RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	205					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCATCTACCTCCGAAGCGTCC	0.592													12	116					6.40141e-05	6.56987e-05	1	0	A	70052566	C	A	70052566	3	1	161	1	0	0	0	0	1	0	0	0	5405	855	30	2	620	2	FADD	11	70052566	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	24225121	70052566	64953950	86	29264											
PKP2	5318	broad.mit.edu	37	chr12	33031419	33031419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttcttccacggacttctggGagctgtactgtgctgttcct	4	16	10	11	1	2	0	0	0	2	0	4	2	4	2	2	2	3	4	2	2	1	5			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:33031419G>A	ENST00000340811.4	-	3	503	c.395C>T	c.(394-396)tCc>tTc	p.S132F	PKP2_ENST00000070846.6_Missense_Mutation_p.S132F	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	132					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGACTTCTGGGAGCTGTACTG	0.522													57	215					0	0	0	0	A	33031419	G	A	33031419	3	1	161	1	0	0	0	0	1	0	0	0	12057	1174	41	2	2298	2	PKP2	12	33031419	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08		33031419	100820476	87	29265											
TROAP	10024	broad.mit.edu	37	chr12	49717952	49717952	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgatagtcctggtcccagctCctggaaagctctttgctctt	6	14	9	12	0	2	1	0	1	2	0	5	2	5	2	3	2	3	3	3	2	2	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:49717952C>G	ENST00000380327.5	+	4	452	c.352C>G	c.(352-354)Cct>Gct	p.P118A	TROAP_ENST00000257909.3_Intron|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000548311.1_Intron|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000551245.1_Intron	NM_001100620.1	NP_001094090.1	Q12815	TROAP_HUMAN	trophinin associated protein	115					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GGTCCCAGCTCCTGGAAAGCT	0.507													9	60					0	0	0	0	G	49717952	C	G	49717952	3	3	161	1	0	0	0	0	1	0	0	0	16670	855	30	2	362	2	TROAP	12	49717952	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	16686533	49717952	84133943	88	29266											
MYF5	4617	broad.mit.edu	37	chr12	81110932	81110932	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagggtgaatttggggaCgagtttgtgccgcgagtggc	6	9	18	8	4	0	1	0	1	0	0	0	5	0	2	2	4	1	1	2	4	1	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:81110932C>T	ENST00000228644.3	+	1	242	c.90C>T	c.(88-90)gaC>gaT	p.D30D		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	30					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AATTTGGGGACGAGTTTGTGC	0.617													10	31					0	0	0	0	T	81110932	C	T	81110932	2	4	161	1	0	0	0	0	0	0	0	1	10097	535	19	1		1	MYF5	12	81110932	Silent	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	31392980	81110932	52740963	89	29267											
SLC25A3	5250	broad.mit.edu	37	chr12	98993752	98993752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gattctacaagggggttgctCctctctggatgagacagata	10	11	12	8	0	2	2	0	1	2	2	4	5	3	3	1	3	2	2	1	3	3	4			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:98993752C>T	ENST00000188376.5	+	5	1015	c.661C>T	c.(661-663)Cct>Tct	p.P221S	SLC25A3_ENST00000401722.3_Missense_Mutation_p.P221S|SLC25A3_ENST00000552981.1_Missense_Mutation_p.P221S|SLC25A3_ENST00000228318.3_Missense_Mutation_p.P222S|SLC25A3_ENST00000549338.1_Missense_Mutation_p.P221S|SLC25A3_ENST00000548847.1_Missense_Mutation_p.P221S|SLC25A3_ENST00000551917.1_Missense_Mutation_p.P222S	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	222					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GGGGGTTGCTCCTCTCTGGAT	0.438													10	61					0	0	0	0	T	98993752	C	T	98993752	3	4	161	1	0	0	0	0	1	0	0	0	14581	855	30	2	808	2	SLC25A3	12	98993752	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	17882820	98993752	34858143	90	29268											
ANKLE2	23141	broad.mit.edu	37	chr12	133306796	133306796	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcattttgccgattttttAtttcttccaagctcatgtca	7	19	5	10	1	3	0	2	0	1	0	4	1	4	0	2	0	3	2	2	0	2	7			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:133306796A>G	ENST00000539605.1	-	10	8450	c.1766T>C	c.(1765-1767)aTa>aCa	p.I589T	ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000357997.5_Missense_Mutation_p.I651T|ANKLE2_ENST00000542657.1_Missense_Mutation_p.I6T|ANKLE2_ENST00000542282.1_Missense_Mutation_p.I6T			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	651						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CCGATTTTTTATTTCTTCCAA	0.512													9	58					0	0	0	0	G	133306796	A	G	133306796	3	3	161	1	0	0	0	0	1	0	0	0	633	449	16	5	876	5	ANKLE2	12	133306796	Missense_Mutation	SNP	A	TCGA-CQ-A4C6-01A-11D-A25D-08	34313044	133306796	545099	91	29269											
MTIF3	219402	broad.mit.edu	37	chr13	28014163	28014163	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctccatctccctcagcctCtgccgctcctggaggatctg	4	12	8	17	1	5	0	1	0	4	0	8	2	6	2	5	2	2	1	5	2	0	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr13:28014163C>G	ENST00000381116.1	-	5	657	c.423G>C	c.(421-423)caG>caC	p.Q141H	MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Missense_Mutation_p.Q141H|MTIF3_ENST00000405591.2_Missense_Mutation_p.Q141H|MTIF3_ENST00000431572.2_Missense_Mutation_p.Q141H			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	141					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CCCTCAGCCTCTGCCGCTCCT	0.493													10	41					0	0	0	0	G	28014163	C	G	28014163	3	3	161	1	0	0	0	0	1	0	0	0	10005	912	32	2	425	2	MTIF3	13	28014163	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08		28014163	87155715	92	29270											
AKAP6	9472	broad.mit.edu	37	chr14	33293956	33293956	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctaaaccttcatgaaaaaCgacatagaaatatgcatagg	18	10	6	7	1	2	2	1	1	1	1	2	3	2	2	1	1	3	1	1	1	8	6			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr14:33293956C>T	ENST00000280979.4	+	13	7107	c.6937C>T	c.(6937-6939)Cga>Tga	p.R2313*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2313					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.R2313*(1)		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)		TCATGAAAAACGACATAGAAA	0.418													35	75					0	0	0	0	T	33293956	C	T	33293956	4	4	161	1	0	0	0	0	0	1	0	0	455	528	19	1	6983	1	AKAP6	14	33293956	Nonsense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08		33293956	74055584	93	29271											
FOS	2353	broad.mit.edu	37	chr14	75747960	75747960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctggagcccctgtgcactCcggtggtcacctgtactccc	5	9	11	16	1	1	0	1	0	0	0	3	1	3	1	5	3	4	3	5	3	1	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr14:75747960C>T	ENST00000303562.4	+	4	1185	c.976C>T	c.(976-978)Ccg>Tcg	p.P326S	FOS_ENST00000555686.1_Missense_Mutation_p.P212S|FOS_ENST00000555347.1_Missense_Mutation_p.P178S|FOS_ENST00000535987.1_Missense_Mutation_p.P290S	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	326					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		CCTGTGCACTCCGGTGGTCAC	0.632													18	113					0	0	0	0	T	75747960	C	T	75747960	3	4	161	1	0	0	0	0	1	0	0	0	6030	855	30	2	990	2	FOS	14	75747960	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	42454004	75747960	31601580	94	29272											
SPG11	80208	broad.mit.edu	37	chr15	44858160	44858160	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtgaatctgcagagttatCaacttggtgagccgctgaca	12	10	11	8	1	2	4	1	3	1	1	2	4	2	4	1	1	3	3	1	1	4	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr15:44858160C>G	ENST00000261866.7	-	38	6907	c.6891G>C	c.(6889-6891)ttG>ttC	p.L2297F	SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Missense_Mutation_p.L2184F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2297					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCAGAGTTATCAACTTGGTGA	0.537													4	26					0	0	0	0	G	44858160	C	G	44858160	3	3	161	1	0	0	0	0	1	0	0	0	15131	825	29	2	452	2	SPG11	15	44858160	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08		44858160	57673232	95	29273											
SNUPN	10073	broad.mit.edu	37	chr15	75901925	75901925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgttgagtttcgcctgttgCctcctggcagaagtgaagaa	8	12	12	9	1	0	4	0	2	0	2	2	4	1	4	3	1	1	4	3	1	3	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr15:75901925C>T	ENST00000564644.1	-	6	1054	c.476G>A	c.(475-477)gGc>gAc	p.G159D	SNUPN_ENST00000564675.1_Missense_Mutation_p.G159D|SNUPN_ENST00000308588.5_Missense_Mutation_p.G159D|SNUPN_ENST00000371091.5_Missense_Mutation_p.G201D|SNUPN_ENST00000567134.1_Missense_Mutation_p.G159D			O95149	SPN1_HUMAN	snurportin 1	159	Necessary for interaction with XPO1.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						TCGCCTGTTGCCTCCTGGCAG	0.438													13	62					0	0	0	0	T	75901925	C	T	75901925	3	4	161	1	0	0	0	0	1	0	0	0	14965	739	26	4	626	4	SNUPN	15	75901925	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	31043765	75901925	26629467	96	29274											
SNUPN	10073	broad.mit.edu	37	chr15	75901988	75901988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttggtgtaggcactggtaGaaccctgcatggagagaaag	11	9	14	7	0	1	2	0	0	1	2	1	4	1	3	1	4	2	4	1	4	4	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr15:75901988G>A	ENST00000564644.1	-	6	991	c.413C>T	c.(412-414)tCt>tTt	p.S138F	SNUPN_ENST00000564675.1_Missense_Mutation_p.S138F|SNUPN_ENST00000308588.5_Missense_Mutation_p.S138F|SNUPN_ENST00000371091.5_Missense_Mutation_p.S180F|SNUPN_ENST00000567134.1_Missense_Mutation_p.S138F			O95149	SPN1_HUMAN	snurportin 1	138	Necessary for interaction with XPO1.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GGCACTGGTAGAACCCTGCAT	0.483													11	49					0	0	0	0	A	75901988	G	A	75901988	3	1	161	1	0	0	0	0	1	0	0	0	14965	942	33	2	689	2	SNUPN	15	75901988	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	63	75901988	26629404	97	29275											
MYH11	4629	broad.mit.edu	37	chr16	15818249	15818249	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcaaagtcctgcagcttCttcttcgagtcggagagcta	8	11	11	11	2	2	1	0	0	2	1	5	3	3	1	1	2	3	4	1	2	2	4			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:15818249C>T	ENST00000338282.6	-	31	4240	c.4134G>A	c.(4132-4134)aaG>aaA	p.K1378K	NDE1_ENST00000396355.1_3'UTR|MYH11_ENST00000300036.5_Silent_p.K1378K|MYH11_ENST00000452625.2_Silent_p.K1385K|NDE1_ENST00000342673.5_3'UTR|NDE1_ENST00000396354.1_3'UTR|MYH11_ENST00000576790.1_Silent_p.K1378K|MYH11_ENST00000396324.3_Silent_p.K1385K|NDE1_ENST00000571896.1_3'UTR	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1378					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTGCAGCTTCTTCTTCGAGT	0.587			T	CBFB	AML								7	58					0	0	0	0	T	15818249	C	T	15818249	2	4	161	1	0	0	0	0	0	0	0	1	10101	912	32	2		2	MYH11	16	15818249	Silent	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08		15818249	74536504	98	29276											
FAM57B	83723	broad.mit.edu	37	chr16	30038047	30038047	+	Silent	SNP	G	G	A																															cccggggctctggccgctccGtcgtcccctccatgcccttt																										TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:30038047G>A	ENST00000380495.4	-	3	1058	c.327C>T	c.(325-327)gaC>gaT	p.D109D	FAM57B_ENST00000564806.1_Silent_p.D59D|FAM57B_ENST00000279389.4_Silent_p.D59D	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	109	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TGGCCGCTCCGTCGTCCCCTC	0.607													4	34					0	0	0	0	A	30038047	G	A	30038047	2	1	161	1	0	0	0	0	0	0	0	1	5635	1136	40	1		1	FAM57B	16	30038047	Silent	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	14219798	30038047	60316706	99	29277	224	2									
FAM57B	83723	broad.mit.edu	37	chr16	30038054	30038054	+	Missense_Mutation	SNP	C	C	T																															ctctggccgctccgtcgtccCctccatgccctttgacctgg																										TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:30038054C>T	ENST00000380495.4	-	3	1051	c.320G>A	c.(319-321)gGg>gAg	p.G107E	FAM57B_ENST00000564806.1_Missense_Mutation_p.G57E|FAM57B_ENST00000279389.4_Missense_Mutation_p.G57E	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	107	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TCCGTCGTCCCCTCCATGCCC	0.607													4	36					0	0	0	0	T	30038054	C	T	30038054	3	4	161	1	0	0	0	0	1	0	0	0	5635	623	22	4	516	4	FAM57B	16	30038054	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	7	30038054	60316699	100	29278	224	2									
PKD1L2	114780	broad.mit.edu	37	chr16	81211499	81211499	+	Missense_Mutation	SNP	C	C	T																															gctcgtcagaacggtgccctCctctggggcaatagtgcagg																										TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:81211499C>T	ENST00000599697.1	-	14	2349	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K	PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	784	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACGGTGCCCTCCTCTGGGGCA	0.592													15	69					0	0	0	0	T	81211499	C	T	81211499	3	4	161	1	0	0	0	0	1	0	0	0	12037	864	30	2	5218	2	PKD1L2	16	81211499	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	51173445	81211499	9143254	101	29279	225	2									
PKD1L2	114780	broad.mit.edu	37	chr16	81211502	81211502	+	Missense_Mutation	SNP	C	C	T																															cgtcagaacggtgccctcctCtggggcaatagtgcaggcag																										TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:81211502C>T	ENST00000599697.1	-	14	2346	c.2347G>A	c.(2347-2349)Gag>Aag	p.E783K	PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	783	REJ.			E -> G (in Ref. 5; BAC05222).	neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTGCCCTCCTCTGGGGCAATA	0.597													16	69					0	0	0	0	T	81211502	C	T	81211502	3	4	161	1	0	0	0	0	1	0	0	0	12037	922	32	2	5221	2	PKD1L2	16	81211502	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	3	81211502	9143251	102	29280	225	2									
KCNG4	93107	broad.mit.edu	37	chr16	84256345	84256345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcgagccaggcgcatcacGtagaggatgcgcagcgctcg	8	5	16	12	6	1	1	1	0	0	1	2	3	1	2	1	3	3	4	1	3	1	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:84256345G>A	ENST00000308251.4	-	3	1106	c.1038C>T	c.(1036-1038)taC>taT	p.Y346Y		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	346						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGCGCATCACGTAGAGGATGC	0.697													5	20					0	0	0	0	A	84256345	G	A	84256345	2	1	161	1	0	0	0	0	0	0	0	1	8083	1140	40	1		1	KCNG4	16	84256345	Silent	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	3044843	84256345	6098408	103	29281											
TP53	7157	broad.mit.edu	37	chr17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagctcgtggtgaggctCccctttcttgcggagattct	4	12	14	11	2	2	2	0	1	2	1	4	3	3	2	2	4	2	3	2	4	0	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr17:7577058C>A	ENST00000420246.2	-	8	1012	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	294	Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGTGAGGCTCCCCTTTCTTG	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	31					2.47316e-13	2.81615e-13	1	0	A	7577058	C	A	7577058	4	1	161	1	0	0	0	0	0	1	0	0	16476	864	30	2	406	2	TP53	17	7577058	Nonsense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08		7577058	73618152	104	29282											
C17orf47	284083	broad.mit.edu	37	chr17	56621550	56621550	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttatttgtcttgaccatctGatagattgtgcccttctgag	7	18	8	8	0	3	4	0	3	3	1	3	4	3	4	2	0	1	0	2	0	2	7			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr17:56621550G>C	ENST00000321691.3	-	0	179				RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47											NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGACCATCTGATAGATTGTG	0.463													16	111					0	0	0	0	C	56621550	G	C	56621550	1	2	161	1	0	0	0	0	0	0	0	0	1873	1305	45	2		2	C17orf47	17	56621550	Translation_Start_Site	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	49044492	56621550	24573660	105	29283											
AMZ2	51321	broad.mit.edu	37	chr17	66246328	66246328	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacttgcttttttttgttaGatgcaaataatacggcactc	10	18	6	7	1	0	1	0	0	0	1	1	1	0	1	0	1	4	4	0	1	5	9			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr17:66246328G>C	ENST00000359904.3	+	2	1132		c.e2-1		AMZ2_ENST00000392720.2_Splice_Site|AMZ2_ENST00000577866.1_Splice_Site|AMZ2_ENST00000577273.1_5'UTR|AMZ2_ENST00000580753.1_Splice_Site|AMZ2_ENST00000577985.1_5'UTR|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000359783.4_Splice_Site	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2								metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTTTGTTAGATGCAAATAA	0.358													42	58					0	0	0	0	C	66246328	G	C	66246328	5	2	161	1	0	0	0	0	0	0	1	0	597	956	33	2	2	2	AMZ2	17	66246328	Splice_Site	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	9624778	66246328	14948882	106	29284											
MC5R	4161	broad.mit.edu	37	chr18	13826231	13826231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaccacatcatgacggCgaggcgctcaggggccatca	10	5	11	15	3	3	1	3	1	0	0	3	2	3	1	3	4	1	1	3	4	1	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr18:13826231C>T	ENST00000324750.3	+	1	689	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	156					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATCATGACGGCGAGGCGCTCA	0.577													51	165					0	0	0	0	T	13826231	C	T	13826231	3	4	161	1	0	0	0	0	1	0	0	0	9436	768	27	1	469	1	MC5R	18	13826231	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08		13826231	64251017	107	29285											
AP3D1	8943	broad.mit.edu	37	chr19	2120998	2120998	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgaacttgcggatggccttCacgcggatggccacgtccag	7	7	14	13	5	1	0	1	0	0	0	2	3	2	2	3	4	2	0	3	4	1	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:2120998C>T	ENST00000355272.6	-	14	1550	c.1344G>A	c.(1342-1344)gtG>gtA	p.V448V	AP3D1_ENST00000350812.6_Silent_p.V279V|AP3D1_ENST00000356926.4_Silent_p.V357V|AP3D1_ENST00000345016.5_Silent_p.V448V	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	448					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GGATGGCCTTCACGCGGATGG	0.652													13	35					0	0	0	0	T	2120998	C	T	2120998	2	4	161	1	0	0	0	0	0	0	0	1	747	813	29	2		2	AP3D1	19	2120998	Silent	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08		2120998	57007985	108	29286											
KDM4B	23030	broad.mit.edu	37	chr19	5133893	5133893	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcccctctgttcttctaGaggcatcccctttctccggg	3	14	7	17	1	5	1	0	0	5	1	8	1	6	1	5	2	0	2	5	2	1	4			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:5133893G>T	ENST00000159111.4	+	14	2124		c.e14-1		KDM4B_ENST00000536461.1_Splice_Site	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGTTCTTCTAGAGGCATCCCC	0.612													9	37					3.86212e-05	3.99e-05	1	0	T	5133893	G	T	5133893	5	4	161	1	0	0	0	0	0	0	1	0	8182	956	33	2	1952	2	KDM4B	19	5133893	Splice_Site	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	3012895	5133893	53995090	109	29287											
NWD1	284434	broad.mit.edu	37	chr19	16860197	16860197	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgcctgccgtggagccgCgacttggtgaaccccaagaa	9	5	12	15	4	0	2	0	1	0	1	0	4	0	3	6	2	3	0	6	2	3	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:16860197C>T	ENST00000524140.2	+	6	1162	c.744C>T	c.(742-744)cgC>cgT	p.R248R	NWD1_ENST00000523826.1_Silent_p.R42R|NWD1_ENST00000379808.3_Silent_p.R248R|NWD1_ENST00000339803.6_Silent_p.R113R|NWD1_ENST00000552788.1_Silent_p.R248R|NWD1_ENST00000549814.1_Silent_p.R248R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	248							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGTGGAGCCGCGACTTGGTGA	0.602													10	49					0	0	0	0	T	16860197	C	T	16860197	2	4	161	1	0	0	0	0	0	0	0	1	10852	755	27	1		1	NWD1	19	16860197	Silent	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	11726304	16860197	42268786	110	29288											
PLVAP	83483	broad.mit.edu	37	chr19	17476143	17476143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttctgatggccagctcCatcctgagctgctccgcctc	5	11	10	15	1	1	2	0	2	1	0	5	3	4	2	5	1	3	4	5	1	0	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:17476143C>T	ENST00000252590.4	-	3	1192	c.1131G>A	c.(1129-1131)atG>atA	p.M377I		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	377						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGCCAGCTCCATCCTGAGCT	0.617													9	62					0	0	0	0	T	17476143	C	T	17476143	3	4	161	1	0	0	0	0	1	0	0	0	12188	594	21	4	213	4	PLVAP	19	17476143	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	615946	17476143	41652840	111	29289											
PLVAP	83483	broad.mit.edu	37	chr19	17476278	17476278	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcttggagcttggcctcCcgggcctgagcctccttctc	3	11	11	16	1	2	1	1	1	1	0	5	2	4	2	5	3	3	2	5	3	0	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:17476278C>T	ENST00000252590.4	-	3	1057	c.996G>A	c.(994-996)cgG>cgA	p.R332R		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	332				Missing (in Ref. 3; BAC04681).		caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTTGGCCTCCCGGGCCTGAG	0.647													5	37					0	0	0	0	T	17476278	C	T	17476278	2	4	161	1	0	0	0	0	0	0	0	1	12188	610	22	4		4	PLVAP	19	17476278	Silent	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	135	17476278	41652705	112	29290											
ZNF792	126375	broad.mit.edu	37	chr19	35450419	35450419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtcctgtgccactccttCtacagaaacgttatgctcag	8	12	7	14	1	2	1	1	0	1	1	4	1	4	1	4	0	4	2	4	0	3	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:35450419C>T	ENST00000404801.1	-	4	726	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	ZNF792_ENST00000605484.1_Missense_Mutation_p.E47K	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCACTCCTTCTACAGAAACG	0.463													14	47					0	0	0	0	T	35450419	C	T	35450419	3	4	161	1	0	0	0	0	1	0	0	0	18257	922	32	2	1562	2	ZNF792	19	35450419	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	17974141	35450419	23678564	113	29291											
MAP4K1	11184	broad.mit.edu	37	chr19	39108455	39108455	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttaaagacttccccataCgtgccgccacccagccgctg	9	7	7	18	3	0	1	0	0	0	1	1	1	1	1	7	0	3	1	7	0	3	3			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:39108455C>T	ENST00000591517.1	-	1	109	c.81G>A	c.(79-81)acG>acA	p.T27T	MAP4K1_ENST00000396857.2_Silent_p.T27T|MAP4K1_ENST00000589130.1_Silent_p.T23T|MAP4K1_ENST00000586296.1_Silent_p.T27T	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	27	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTTCCCCATACGTGCCGCCAC	0.607													17	78					0	0	0	0	T	39108455	C	T	39108455	2	4	161	1	0	0	0	0	0	0	0	1	9328	523	19	1		1	MAP4K1	19	39108455	Silent	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	3658036	39108455	20020528	114	29292											
KCNC3	3748	broad.mit.edu	37	chr19	50826952	50826952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagatgcgcaggatgcGgacgaagcggaccacccgca	11	4	14	12	5	0	2	0	1	0	1	0	6	0	5	2	3	3	2	2	3	2	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:50826952G>A	ENST00000376959.2	-	2	1421	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	KCNC3_ENST00000477616.1_Missense_Mutation_p.R420C|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	420			R -> H (in SCA13; loss of channel activity).		cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R420C(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CGCAGGATGCGGACGAAGCGG	0.652													9	30					0	0	0	0	A	50826952	G	A	50826952	3	1	161	1	0	0	0	0	1	0	0	0	8069	1116	39	1	1027	1	KCNC3	19	50826952	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08	11718497	50826952	8302031	115	29293											
CSRP2BP	57325	broad.mit.edu	37	chr20	18142736	18142736	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcctccttgagctcctctGaccgcaccccgctgacaagc	6	10	7	18	2	1	3	0	3	1	0	4	3	4	3	6	0	2	3	6	0	1	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr20:18142736G>C	ENST00000278816.2	+	6	1605	c.955G>C	c.(955-957)Gac>Cac	p.D319H	CSRP2BP_ENST00000435364.2_Missense_Mutation_p.D319H|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.D318H|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.D191H			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	319					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GAGCTCCTCTGACCGCACCCC	0.522													50	166					0	0	0	0	C	18142736	G	C	18142736	3	2	161	1	0	0	0	0	1	0	0	0	4000	1290	45	2	973	2	CSRP2BP	20	18142736	Missense_Mutation	SNP	G	TCGA-CQ-A4C6-01A-11D-A25D-08		18142736	44882784	116	29294											
SIK1	150094	broad.mit.edu	37	chr21	44845977	44845977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagggtccgctcgatgtCgtaaaaacccacccggaggg	9	5	13	14	4	0	0	0	0	0	0	3	2	1	1	4	3	1	2	4	3	3	1			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr21:44845977C>A	ENST00000270162.6	-	2	214	c.82G>T	c.(82-84)Gac>Tac	p.D28Y		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	28	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CGCTCGATGTCGTAAAAACCC	0.677													4	5					0.150653	0.150653	1	0	A	44845977	C	A	44845977	3	1	161	1	0	0	0	0	1	0	0	0	14405	884	31	3	2321	3	SIK1	21	44845977	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08		44845977	3283918	117	29295											
MYH9	4627	broad.mit.edu	37	chr22	36685215	36685215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccgctccagctccgccttCtgctccatggcttcctccag	4	10	8	19	2	1	0	0	0	1	0	6	0	6	0	7	1	3	4	7	1	0	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr22:36685215C>T	ENST00000216181.5	-	32	4703	c.4473G>A	c.(4471-4473)caG>caA	p.Q1491Q		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1491					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCGCCTTCTGCTCCATGG	0.637			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				10	33					0	0	0	0	T	36685215	C	T	36685215	2	4	161	1	0	0	0	0	0	0	0	1	10112	912	32	2		2	MYH9	22	36685215	Silent	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08		36685215	14619351	118	29296											
BCOR	54880	broad.mit.edu	37	chrX	39922007	39922007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagaggtaccttgccatCggcattctccacgtagtatt	9	12	9	11	2	2	1	1	0	1	1	4	1	2	1	3	2	2	4	3	2	4	6			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chrX:39922007C>A	ENST00000342274.4	-	9	4425	c.4063G>T	c.(4063-4065)Gat>Tat	p.D1355Y	BCOR_ENST00000378463.1_Missense_Mutation_p.D232Y|BCOR_ENST00000378444.4_Missense_Mutation_p.D1389Y|BCOR_ENST00000397354.3_Missense_Mutation_p.D1355Y|BCOR_ENST00000378455.4_Missense_Mutation_p.D1337Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1389					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACCTTGCCATCGGCATTCTCC	0.577			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						3	4					0.004672	0.00473268	1	0	A	39922007	C	A	39922007	3	1	161	1	0	0	0	0	1	0	0	0	1390	884	31	3	1130	3	BCOR	23	39922007	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08		39922007	115348553	119	29297											
NKAP	79576	broad.mit.edu	37	chrX	119070345	119070345	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcgatgattttttctttctCcttttcttggacctttcttt	3	25	4	9	1	4	1	0	1	4	0	6	3	4	2	2	1	0	0	2	1	0	10			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chrX:119070345C>T	ENST00000371410.3	-	4	754	c.588G>A	c.(586-588)agG>agA	p.R196R	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	196	Lys-rich.|Necessary for interaction with CIR1.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TTTTCTTTCTCCTTTTCTTGG	0.318													9	24					0	0	0	0	T	119070345	C	T	119070345	2	4	161	1	0	0	0	0	0	0	0	1	10509	854	30	2		2	NKAP	23	119070345	Silent	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	79148338	119070345	36200215	120	29298											
PLXNB3	5365	broad.mit.edu	37	chrX	153036775	153036775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcccacagttttatccctCcatgtcccagcgggagctcc	6	10	8	17	1	0	0	0	0	0	0	4	1	4	1	5	1	3	2	5	1	1	2			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chrX:153036775C>T	ENST00000538966.1	+	14	2604	c.2333C>T	c.(2332-2334)tCc>tTc	p.S778F	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.S755F|PLXNB3_ENST00000538282.1_Missense_Mutation_p.S365F|PLXNB3_ENST00000538776.1_Missense_Mutation_p.S408F	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	755					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTTATCCCTCCATGTCCCAG	0.607													4	14					0	0	0	0	T	153036775	C	T	153036775	3	4	161	1	0	0	0	0	1	0	0	0	12197	855	30	2	2428	2	PLXNB3	23	153036775	Missense_Mutation	SNP	C	TCGA-CQ-A4C6-01A-11D-A25D-08	33966430	153036775	2233785	121	29299											
CASZ1	54897	broad.mit.edu	37	chr1	10725221	10725221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctccagggcaccgccgtCcttggagggctcctccgcgt	3	8	12	18	4	0	0	0	0	0	0	5	1	5	1	7	3	0	2	7	3	0	1			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:10725221C>T	ENST00000377022.3	-	5	741	c.424G>A	c.(424-426)Gac>Aac	p.D142N	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.D142N	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCACCGCCGTCCTTGGAGGGC	0.687													7	28					0	0	0	0	T	10725221	C	T	10725221	3	4	162	1	0	0	0	0	1	0	0	0	2710	855	30	2	4927	2	CASZ1	1	10725221	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08		10725221	238525400	1	29300											
SLC30A2	7780	broad.mit.edu	37	chr1	26369045	26369045	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcccagctctgaccttgaAgtataaaatataggctgcca	12	11	8	10	0	1	2	0	2	1	0	2	2	2	2	3	1	2	3	3	1	6	5			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:26369045A>C	ENST00000374278.3	-	4	796	c.580T>G	c.(580-582)Ttc>Gtc	p.F194V	SLC30A2_ENST00000374276.3_Missense_Mutation_p.F243V	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	194					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CTGACCTTGAAGTATAAAATA	0.547													8	89					0	0	0	0	C	26369045	A	C	26369045	3	2	162	1	0	0	0	0	1	0	0	0	14643	72	3	5	407	5	SLC30A2	1	26369045	Missense_Mutation	SNP	A	TCGA-CQ-A4C7-01A-11D-A25D-08	15643824	26369045	222881576	2	29301											
SF3A3	10946	broad.mit.edu	37	chr1	38455601	38455601	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagccgttccttctcctCatgatagcgccgctgctgct	5	12	9	15	3	2	2	1	2	1	0	4	2	3	2	4	0	4	4	4	0	1	3			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:38455601C>A	ENST00000373019.4	-	1	992	c.37G>T	c.(37-39)Gag>Tag	p.E13*	SF3A3_ENST00000448721.2_Nonsense_Mutation_p.E13*	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	13					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCTTCTCCTCATGATAGCGC	0.592											OREG0013386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	86					0.000602214	0.000639388	1	0	A	38455601	C	A	38455601	4	1	162	1	0	0	0	0	0	1	0	0	14235	835	29	2	1536	2	SF3A3	1	38455601	Nonsense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	12086556	38455601	210795020	3	29302											
LPHN2	23266	broad.mit.edu	37	chr1	82372826	82372826	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagagcgctaactatggtcgGacggatgacaagatttgtga	12	9	14	6	3	0	4	0	2	0	2	1	7	0	6	0	3	2	1	0	3	3	3			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:82372826G>T	ENST00000370728.1	+	6	843	c.198G>T	c.(196-198)cgG>cgT	p.R66R	LPHN2_ENST00000370727.1_Silent_p.R66R|LPHN2_ENST00000370730.1_Silent_p.R66R|LPHN2_ENST00000370721.1_Silent_p.R66R|LPHN2_ENST00000370715.1_Silent_p.R66R|LPHN2_ENST00000370725.1_Silent_p.R66R|LPHN2_ENST00000359929.3_Silent_p.R66R|LPHN2_ENST00000370713.1_Silent_p.R66R|LPHN2_ENST00000271029.4_Silent_p.R66R|LPHN2_ENST00000394879.1_Silent_p.R66R|LPHN2_ENST00000319517.6_Silent_p.R66R|LPHN2_ENST00000370717.2_Silent_p.R66R|LPHN2_ENST00000370723.1_Silent_p.R66R|LPHN2_ENST00000335786.5_Silent_p.R66R|LPHN2_ENST00000469377.2_3'UTR			O95490	LPHN2_HUMAN	latrophilin 2	66	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACTATGGTCGGACGGATGACA	0.453													6	94					0.217242	0.217242	1	0	T	82372826	G	T	82372826	2	4	162	1	0	0	0	0	0	0	0	1	8980	1161	41	2		2	LPHN2	1	82372826	Silent	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	43917225	82372826	166877795	4	29303											
RPL5	6125	broad.mit.edu	37	chr1	93301776	93301776	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtttggcatggacaagatCtatgaaggccaagtggaggt	12	9	15	5	0	1	2	0	1	1	1	1	4	1	4	1	6	0	2	1	6	4	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:93301776C>T	ENST00000370321.3	+	5	444	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	118					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGGACAAGATCTATGAAGGCC	0.413													6	104					0	0	0	0	T	93301776	C	T	93301776	2	4	162	1	0	0	0	0	0	0	0	1	13682	903	32	2		2	RPL5	1	93301776	Silent	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	10928950	93301776	155948845	5	29304											
COL11A1	1301	broad.mit.edu	37	chr1	103348754	103348754	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaacagattggtacttaCtccctcagattttttgtctg	10	15	6	10	0	2	2	1	0	1	2	3	2	3	2	2	1	3	1	2	1	4	6			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:103348754C>G	ENST00000358392.2	-	64	5325		c.e64+1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGTACTTACTCCCTCAGAT	0.363													7	61					0	0	0	0	G	103348754	C	G	103348754	5	3	162	1	0	0	0	0	0	0	1	0	3697	579	20	4	464	4	COL11A1	1	103348754	Splice_Site	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	10046978	103348754	145901867	6	29305											
CNTN2	6900	broad.mit.edu	37	chr1	205042245	205042245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccacgctccacctcaccgGcaagaactggatagaaatcc	12	6	7	16	2	1	2	1	0	0	2	4	3	4	3	5	2	1	2	5	2	4	1			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:205042245G>A	ENST00000331830.4	+	22	3178	c.2894G>A	c.(2893-2895)gGc>gAc	p.G965D		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	965	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACCTCACCGGCAAGAACTGG	0.562													3	34					0	0	0	0	A	205042245	G	A	205042245	3	1	162	1	0	0	0	0	1	0	0	0	3671	1203	42	4	2976	4	CNTN2	1	205042245	Missense_Mutation	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	101693491	205042245	44208376	7	29306											
EPRS	2058	broad.mit.edu	37	chr1	220170347	220170347	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggggatttttcagcttttAgcttacgaaccacctcccct	8	14	7	12	1	1	0	1	0	0	0	2	2	2	1	4	2	4	2	4	2	4	6			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:220170347A>C	ENST00000366923.3	-	18	2788	c.2519T>G	c.(2518-2520)cTa>cGa	p.L840R		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	840	3 X 57 AA approximate repeats.|WHEP-TRS 2.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTCAGCTTTTAGCTTACGAAC	0.378													11	89					0	0	0	0	C	220170347	A	C	220170347	3	2	162	1	0	0	0	0	1	0	0	0	5229	420	15	5	2079	5	EPRS	1	220170347	Missense_Mutation	SNP	A	TCGA-CQ-A4C7-01A-11D-A25D-08	15128102	220170347	29080274	8	29307											
KIF26B	55083	broad.mit.edu	37	chr1	245850065	245850065	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacagttcttgcccctcccGaagatgagcctggatgagaa	11	8	10	12	1	1	3	0	2	1	2	2	6	2	4	4	1	2	1	4	1	2	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:245850065G>A	ENST00000366518.4	+	9	2741	c.2637G>A	c.(2635-2637)ccG>ccA	p.P879P	KIF26B_ENST00000407071.2_Silent_p.P1260P			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1260					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGCCCCTCCCGAAGATGAGCC	0.632													3	19					0	0	0	0	A	245850065	G	A	245850065	2	1	162	1	0	0	0	0	0	0	0	1	8346	1045	37	1		1	KIF26B	1	245850065	Silent	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	25679718	245850065	3400556	9	29308											
NBAS	51594	broad.mit.edu	37	chr2	15372601	15372601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accttccaggaccttcagtgGgtcccttggcccaccaaggt	7	9	10	15	0	1	0	1	0	0	0	3	1	3	1	6	4	0	0	6	4	1	3			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:15372601G>T	ENST00000281513.5	-	47	6206	c.6181C>A	c.(6181-6183)Cca>Aca	p.P2061T	NBAS_ENST00000441750.1_Missense_Mutation_p.P1941T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2061										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACCTTCAGTGGGTCCCTTGGC	0.473													6	31					5.18039e-06	5.56892e-06	1	0	T	15372601	G	T	15372601	3	4	162	1	0	0	0	0	1	0	0	0	10256	1232	43	4	958	4	NBAS	2	15372601	Missense_Mutation	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08		15372601	227826772	10	29309											
AFTPH	54812	broad.mit.edu	37	chr2	64778891	64778893	+	In_Frame_Del	DEL	GAA	GAA	-																															atgataaggacatcactgctGaactttctgctcctgtgaaa																										TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:64778891_64778893delGAA	ENST00000422803.1	+	2	597_599	c.283_285delGAA	c.(283-285)del	p.E95del	AFTPH_ENST00000238856.4_In_Frame_Del_p.E95del|AFTPH_ENST00000409933.1_In_Frame_Del_p.E95del|AFTPH_ENST00000238855.7_In_Frame_Del_p.E95del			Q6ULP2	AFTIN_HUMAN	aftiphilin	95					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CATCACTGCTGAACTTTCTGCTC	0.355													9	50	---	---	---	---					-	64778893	GAA	-	64778891	7	5	162	1	0	1	0	1	0	0	0	0	364	1291	45	0	285	0	AFTPH	2	64778891	In_Frame_Del	DEL	GAA	TCGA-CQ-A4C7-01A-11D-A25D-08	49406290	64778891	178420482	11	29310											
LYPD6B	130576	broad.mit.edu	37	chr2	150061851	150061851	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagctgttgtccagatcgtTatcttctcagaaagctgggc	9	13	10	9	1	2	2	1	0	2	2	5	2	3	2	1	1	2	4	1	1	3	4			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:150061851T>C	ENST00000409642.3	+	4	563	c.162T>C	c.(160-162)gtT>gtC	p.V54V	LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Silent_p.V54V|LYPD6B_ENST00000409029.1_Silent_p.V30V|LYPD6B_ENST00000409876.1_Silent_p.V30V	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	30						anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TCCAGATCGTTATCTTCTCAG	0.488													20	140					0	0	0	0	C	150061851	T	C	150061851	2	2	162	1	0	0	0	0	0	0	0	1	9180	1741	61	5		5	LYPD6B	2	150061851	Silent	SNP	T	TCGA-CQ-A4C7-01A-11D-A25D-08	85282960	150061851	93137522	12	29311											
CHRNA1	1134	broad.mit.edu	37	chr2	175614731	175614731	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcggtggtgtgtgttgatGacgatgacagtgatgatgat	9	12	17	3	2	0	6	0	6	0	0	0	8	0	6	0	2	1	1	0	2	0	1			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:175614731G>T	ENST00000348749.5	-	7	1022	c.945C>A	c.(943-945)gtC>gtA	p.V315V	CHRNA1_ENST00000409542.1_Silent_p.V233V|CHRNA1_ENST00000409219.1_Silent_p.V315V|CHRNA1_ENST00000261007.5_Silent_p.V340V|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	340					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GTGTGTTGATGACGATGACAG	0.557													20	35					2.21704e-12	2.47617e-12	1	0	T	175614731	G	T	175614731	2	4	162	1	0	0	0	0	0	0	0	1	3410	1277	45	2		2	CHRNA1	2	175614731	Silent	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	25552880	175614731	67584642	13	29312											
ANKAR	150709	broad.mit.edu	37	chr2	190584435	190584435	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcgggaggcattccatctCtaatcaacctactggtttgt	10	12	9	10	1	2	0	1	0	1	0	4	1	3	1	2	3	3	2	2	3	4	4			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:190584435C>G	ENST00000520309.1	+	11	2450	c.2362C>G	c.(2362-2364)Cta>Gta	p.L788V	ANKAR_ENST00000438402.2_Missense_Mutation_p.L788V|ANKAR_ENST00000431575.2_Missense_Mutation_p.L717V|ANKAR_ENST00000281412.6_Missense_Mutation_p.L552V|ANKAR_ENST00000313581.4_Missense_Mutation_p.L788V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	788						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CATTCCATCTCTAATCAACCT	0.408													4	29					0	0	0	0	G	190584435	C	G	190584435	3	3	162	1	0	0	0	0	1	0	0	0	623	912	32	2	2400	2	ANKAR	2	190584435	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	14969704	190584435	52614938	14	29313											
ALS2	57679	broad.mit.edu	37	chr2	202588135	202588135	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcccttgacacacatcaTcttgccacattcccatatac	11	12	2	16	0	2	1	1	1	1	0	4	1	4	1	3	0	2	0	3	0	2	6			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:202588135T>C	ENST00000264276.6	-	22	3914	c.3542A>G	c.(3541-3543)gAt>gGt	p.D1181G	ALS2_ENST00000457679.2_Missense_Mutation_p.D493G	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1181					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACACACATCATCTTGCCACAT	0.383													17	77					0	0	0	0	C	202588135	T	C	202588135	3	2	162	1	0	0	0	0	1	0	0	0	550	1435	50	5	1483	5	ALS2	2	202588135	Missense_Mutation	SNP	T	TCGA-CQ-A4C7-01A-11D-A25D-08	12003700	202588135	40611238	15	29314											
DOCK3	1795	broad.mit.edu	37	chr3	51376375	51376375	+	Frame_Shift_Del	DEL	A	A	-																															ctttattgtagaatttttacAaatctgagattaacaaggaa																										TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr3:51376375delA	ENST00000266037.9	+	37	3705	c.3682delA	c.(3682-3684)aafs	p.K1228fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1228	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAATTTTTACAAATCTGAGAT	0.463													2	4	---	---	---	---					-	51376375	A	-	51376375	7	5	162	1	0	1	0	1	0	0	0	0	4724	131	5	0	3828	0	DOCK3	3	51376375	Frame_Shift_Del	DEL	A	TCGA-CQ-A4C7-01A-11D-A25D-08		51376375	146646055	16	29315											
TRAT1	50852	broad.mit.edu	37	chr3	108549583	108549583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcttggctttggttatatCactgatcttcaatatttccc	7	17	8	9	0	3	1	2	1	1	0	4	1	4	1	1	3	0	3	1	3	4	7			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr3:108549583C>T	ENST00000295756.6	+	2	304	c.74C>T	c.(73-75)tCa>tTa	p.S25L	TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	25					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TTGGTTATATCACTGATCTTC	0.393													8	65					0	0	0	0	T	108549583	C	T	108549583	3	4	162	1	0	0	0	0	1	0	0	0	16561	838	29	2	80	2	TRAT1	3	108549583	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	57173208	108549583	89472847	17	29316											
SEMA5B	54437	broad.mit.edu	37	chr3	122634290	122634290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accctgtcctcacatacctgGagcagttggcgatgtggatg	8	10	12	11	1	1	0	1	0	0	0	2	3	2	2	3	3	2	2	3	3	1	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr3:122634290G>A	ENST00000195173.4	-	14	2288	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	SEMA5B_ENST00000357599.3_Missense_Mutation_p.S662F|SEMA5B_ENST00000451055.2_Missense_Mutation_p.S716F			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	662					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CACATACCTGGAGCAGTTGGC	0.602													20	41					0	0	0	0	A	122634290	G	A	122634290	3	1	162	1	0	0	0	0	1	0	0	0	14125	1174	41	2	1510	2	SEMA5B	3	122634290	Missense_Mutation	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	14084707	122634290	75388140	18	29317											
ECE2	9718	broad.mit.edu	37	chr3	183975424	183975424	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggaagctggacttcccCagtgcttcttttgatgtggt	5	14	13	9	1	1	1	0	1	1	0	2	3	2	3	2	3	3	2	2	3	1	4			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr3:183975424C>G	ENST00000402825.3	+	2	360	c.360C>G	c.(358-360)ccC>ccG	p.P120P	ECE2_ENST00000324557.4_Silent_p.P120P|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	120	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGACTTCCCCAGTGCTTCTT	0.612													4	55					0	0	0	0	G	183975424	C	G	183975424	2	3	162	1	0	0	0	0	0	0	0	1	4926	581	21	4		4	ECE2	3	183975424	Silent	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	61341134	183975424	14047006	19	29318											
ZBTB49	166793	broad.mit.edu	37	chr4	4322518	4322518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcaaagctggtgacgaGagcccagatgtgctggagga	11	6	15	9	1	0	3	0	1	0	2	0	6	0	5	1	3	4	3	1	3	1	0			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr4:4322518G>T	ENST00000337872.4	+	8	1894	c.1773G>T	c.(1771-1773)gaG>gaT	p.E591D	ZBTB49_ENST00000538529.1_Missense_Mutation_p.E74D|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E469D	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CTGGTGACGAGAGCCCAGATG	0.567													6	35					0.0293803	0.029726	1	0	T	4322518	G	T	4322518	3	4	162	1	0	0	0	0	1	0	0	0	17645	933	33	2	1799	2	ZBTB49	4	4322518	Missense_Mutation	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08		4322518	186831758	20	29319											
N4BP2	55728	broad.mit.edu	37	chr4	40122006	40122006	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggtgaaatagtggaagaaAgagcaacagtaacgaaaaaa	21	5	11	4	1	0	3	0	1	0	2	0	5	0	4	0	2	3	2	0	2	9	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr4:40122006A>G	ENST00000261435.6	+	9	2691	c.2275A>G	c.(2275-2277)Aga>Gga	p.R759G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	759						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGTGGAAGAAAGAGCAACAGT	0.378													23	69					0	0	0	0	G	40122006	A	G	40122006	3	3	162	1	0	0	0	0	1	0	0	0	10180	64	3	5	2301	5	N4BP2	4	40122006	Missense_Mutation	SNP	A	TCGA-CQ-A4C7-01A-11D-A25D-08	35799488	40122006	151032270	21	29320											
ENAM	10117	broad.mit.edu	37	chr4	71508562	71508562	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaatcaaattataaactGcctcactctgagggttatat	16	13	5	7	0	3	1	2	1	1	0	3	1	3	1	1	1	2	1	1	1	9	5			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr4:71508562G>A	ENST00000396073.3	+	9	1700	c.1419G>A	c.(1417-1419)ctG>ctA	p.L473L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	473					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATTATAAACTGCCTCACTCTG	0.378													8	13					0	0	0	0	A	71508562	G	A	71508562	2	1	162	1	0	0	0	0	0	0	0	1	5150	1306	46	4		4	ENAM	4	71508562	Silent	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	31386556	71508562	119645714	22	29321											
TRIO	7204	broad.mit.edu	37	chr5	14401070	14401070	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataattgtctttttatccAgacctcagagttgggtgtca	10	16	8	7	0	3	2	2	0	1	2	4	2	4	2	2	1	0	1	2	1	3	7			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr5:14401070A>G	ENST00000344204.4	+	31	4638		c.e31-1		TRIO_ENST00000537187.1_Splice_Site	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTTTTATCCAGACCTCAGAG	0.403													9	20					0	0	0	0	G	14401070	A	G	14401070	5	3	162	1	0	0	0	0	0	0	1	0	16647	202	7	5	4735	5	TRIO	5	14401070	Splice_Site	SNP	A	TCGA-CQ-A4C7-01A-11D-A25D-08		14401070	166514190	23	29322											
TSLP	85480	broad.mit.edu	37	chr5	110409293	110409293	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagaaatgttcgccatgAaaactaaggctgccttagct	14	9	8	10	1	0	2	0	1	0	1	1	2	0	2	3	1	3	3	3	1	6	3			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr5:110409293A>G	ENST00000420978.2	+	4	1723	c.301A>G	c.(301-303)Aaa>Gaa	p.K101E	TSLP_ENST00000379706.4_Missense_Mutation_p.K5E|TSLP_ENST00000344895.3_Missense_Mutation_p.K101E			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	101						extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GTTCGCCATGAAAACTAAGGC	0.537													11	110					0	0	0	0	G	110409293	A	G	110409293	3	3	162	1	0	0	0	0	1	0	0	0	16723	247	9	5	311	5	TSLP	5	110409293	Missense_Mutation	SNP	A	TCGA-CQ-A4C7-01A-11D-A25D-08	96008223	110409293	70505967	24	29323											
GMNN	51053	broad.mit.edu	37	chr6	24784759	24784759	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaagtagcagaacatgtaCagtatatggcagagctaata	17	8	10	6	0	0	3	0	0	0	3	0	3	0	3	0	1	4	6	0	1	8	6			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr6:24784759C>T	ENST00000230056.3	+	6	777	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	GMNN_ENST00000356509.3_Nonsense_Mutation_p.Q149*	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	149	Necessary and sufficient for interaction with IDAS.				M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding	p.Q149*(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						AGAACATGTACAGTATATGGC	0.328													16	34					0	0	0	0	T	24784759	C	T	24784759	4	4	162	1	0	0	0	0	0	1	0	0	6544	479	17	4	463	4	GMNN	6	24784759	Nonsense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08		24784759	146330308	25	29324											
PGC	5225	broad.mit.edu	37	chr6	41708282	41708282	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgacaggcgcccagtagatCtgccccgtgtacaggctgct	7	8	13	13	2	1	2	0	1	1	1	1	2	1	2	3	2	3	4	3	2	2	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr6:41708282C>G	ENST00000373025.3	-	6	776	c.714G>C	c.(712-714)caG>caC	p.Q238H		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	238					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CCCAGTAGATCTGCCCCGTGT	0.617													6	108					0	0	0	0	G	41708282	C	G	41708282	3	3	162	1	0	0	0	0	1	0	0	0	11857	912	32	2	468	2	PGC	6	41708282	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	16923523	41708282	129406785	26	29325											
DST	667	broad.mit.edu	37	chr6	56495095	56495095	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtcagctataactgctTcttcttcacacagtttagtt	8	18	5	10	0	5	0	2	0	3	0	5	0	5	0	0	0	3	4	0	0	3	9			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr6:56495095T>G	ENST00000370754.5	-	30	4129	c.4130A>C	c.(4129-4131)gAa>gCa	p.E1377A	DST_ENST00000370765.6_Missense_Mutation_p.E873A|DST_ENST00000421834.2_Missense_Mutation_p.E1199A|DST_ENST00000370769.4_Missense_Mutation_p.E1199A|DST_ENST00000361203.3_Missense_Mutation_p.E1199A|DST_ENST00000312431.6_Missense_Mutation_p.E1199A|DST_ENST00000244364.6_Missense_Mutation_p.E873A|DST_ENST00000518935.1_Missense_Mutation_p.E873A|DST_ENST00000446842.2_Missense_Mutation_p.E873A|DST_ENST00000370788.2_Missense_Mutation_p.E1199A			Q03001	DYST_HUMAN	dystonin	1199					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATAACTGCTTCTTCTTCACA	0.308													12	35					0	0	0	0	G	56495095	T	G	56495095	3	3	162	1	0	0	0	0	1	0	0	0	4819	1783	62	5	17809	5	DST	6	56495095	Missense_Mutation	SNP	T	TCGA-CQ-A4C7-01A-11D-A25D-08	14786813	56495095	114619972	27	29326											
COL9A1	1297	broad.mit.edu	37	chr6	70935688	70935688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcttcctggagggccaCgctcccccttttctcccaag	5	10	8	18	1	2	0	0	0	2	0	5	2	4	1	6	2	0	1	6	2	1	3			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr6:70935688C>T	ENST00000357250.6	-	37	2686	c.2528G>A	c.(2527-2529)cGt>cAt	p.R843H	RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Missense_Mutation_p.R600H|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.R600H	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	843	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGAGGGCCACGCTCCCCCTT	0.438													9	38					0	0	0	0	T	70935688	C	T	70935688	3	4	162	1	0	0	0	0	1	0	0	0	3737	536	19	1	245	1	COL9A1	6	70935688	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	14440593	70935688	100179379	28	29327											
LPA	4018	broad.mit.edu	37	chr6	161020532	161020532	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtaaagaacaaagacgtacGcatttgggtagttttctggg	12	11	13	5	2	1	2	0	0	1	2	1	2	1	2	0	3	2	5	0	3	6	6			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr6:161020532G>A	ENST00000447678.1	-	21	3407	c.3287_splice	c.e21+1	p.A1096_splice	LPA_ENST00000316300.5_Splice_Site_p.A1096_splice	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3604	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAAGACGTACGCATTTGGGTA	0.488													20	246					0	0	0	0	A	161020532	G	A	161020532	5	1	162	1	0	0	0	0	0	0	1	0	8967	1101	38	1	2915	1	LPA	6	161020532	Splice_Site	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	90084844	161020532	10094535	29	29328											
NFE2L3	9603	broad.mit.edu	37	chr7	26192147	26192148	+	In_Frame_Ins	INS	-	-	CGG																															ctgaagcggtggtggtcggcINScggcggcggcctcctgcacc																										TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr7:26192147_26192148insCGG	ENST00000056233.3	+	1	288_289	c.29_30insCGG	c.(28-30)ggg>gCGGgg	p.10_11insA		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	10					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TGGTGGTCGGCCGGCGGCGGCC	0.757													7	10	---	---	---	---					CGG	26192148	-	CGG	26192147	7	5	162	1	0	1	1	0	0	0	0	0	10439	739	26	0	31	0	NFE2L3	7	26192147	In_Frame_Ins	INS	-	TCGA-CQ-A4C7-01A-11D-A25D-08		26192147	132946516	30	29329											
POLM	27434	broad.mit.edu	37	chr7	44119175	44119175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtaagcacctacctggaCaaccctagaggagtgttctc	11	9	10	11	0	1	1	0	0	1	1	2	3	1	3	3	3	3	3	3	3	4	4			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr7:44119175C>T	ENST00000242248.5	-	4	738	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	POLM_ENST00000335195.6_Missense_Mutation_p.V213I|POLM_ENST00000395831.3_Missense_Mutation_p.V213I	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	213					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCTACCTGGACAACCCTAGAG	0.637								DNA polymerases (catalytic subunits)					5	46					0	0	0	0	T	44119175	C	T	44119175	3	4	162	1	0	0	0	0	1	0	0	0	12278	478	17	4	879	4	POLM	7	44119175	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	17927028	44119175	115019488	31	29330											
GIGYF1	64599	broad.mit.edu	37	chr7	100284282	100284282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatctcaccagggctggcGgagcgccagcggtcgccgtc	6	5	14	16	5	1	0	1	0	1	0	4	1	1	1	4	4	2	1	4	4	1	0			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr7:100284282G>A	ENST00000275732.5	-	7	1893	c.684C>T	c.(682-684)tcC>tcT	p.S228S	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	228										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CAGGGCTGGCGGAGCGCCAGC	0.697													18	43					0	0	0	0	A	100284282	G	A	100284282	2	1	162	1	0	0	0	0	0	0	0	1	6428	1103	39	1		1	GIGYF1	7	100284282	Silent	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	56165107	100284282	58854381	32	29331											
PTPRZ1	5803	broad.mit.edu	37	chr7	121612604	121612604	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttttttagtggaaattaAtctcactaatgactaccgtg	11	17	6	7	1	2	1	1	1	2	0	3	2	2	2	1	1	1	0	1	1	5	7			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr7:121612604A>G	ENST00000393386.2	+	4	725	c.314A>G	c.(313-315)aAt>aGt	p.N105S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.N105S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	105	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTGGAAATTAATCTCACTAAT	0.318													7	29					0	0	0	0	G	121612604	A	G	121612604	3	3	162	1	0	0	0	0	1	0	0	0	12896	101	4	5	328	5	PTPRZ1	7	121612604	Missense_Mutation	SNP	A	TCGA-CQ-A4C7-01A-11D-A25D-08	21328322	121612604	37526059	33	29332											
CRH	1392	broad.mit.edu	37	chr8	67089181	67089181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcttgctgtgctaactgctCggccctggccatttccaaga	7	11	10	13	1	0	1	0	0	0	1	2	1	1	1	3	2	5	4	3	2	2	3			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr8:67089181C>T	ENST00000276571.3	-	2	978	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	178					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	GCTAACTGCTCGGCCCTGGCC	0.532											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	48					0	0	0	0	T	67089181	C	T	67089181	3	4	162	1	0	0	0	0	1	0	0	0	3899	893	31	1	62	1	CRH	8	67089181	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08		67089181	79274841	34	29333											
CPNE3	8895	broad.mit.edu	37	chr8	87544758	87544758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagctgaagaaataaaaGataatagagtggtcttgttt	15	14	9	3	0	2	4	1	1	1	3	2	4	2	4	0	1	1	2	0	1	6	6			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr8:87544758G>T	ENST00000521271.1	+	6	571	c.409G>T	c.(409-411)Gat>Tat	p.D137Y	CPNE3_ENST00000198765.4_Missense_Mutation_p.D137Y	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	137	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						AGAAATAAAAGATAATAGAGT	0.328													8	142					0.00307968	0.003153	1	0	T	87544758	G	T	87544758	3	4	162	1	0	0	0	0	1	0	0	0	3843	942	33	2	423	2	CPNE3	8	87544758	Missense_Mutation	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	20455577	87544758	58819264	35	29334											
PHF20L1	51105	broad.mit.edu	37	chr8	133829644	133829644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctccctcttgacttaaGtcgtggttcagaagttacag	8	14	9	10	1	3	2	1	1	2	1	5	2	3	2	1	1	1	2	1	1	3	4			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr8:133829644G>C	ENST00000395386.2	+	12	1732	c.1433G>C	c.(1432-1434)aGt>aCt	p.S478T	PHF20L1_ENST00000395383.1_Missense_Mutation_p.S482T|PHF20L1_ENST00000395390.2_Missense_Mutation_p.S453T|PHF20L1_ENST00000315808.10_Missense_Mutation_p.S478T|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395382.3_Missense_Mutation_p.S348T	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	478							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTTGACTTAAGTCGTGGTTCA	0.438													5	64					0	0	0	0	C	133829644	G	C	133829644	3	2	162	1	0	0	0	0	1	0	0	0	11904	1029	36	4	1481	4	PHF20L1	8	133829644	Missense_Mutation	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	46284886	133829644	12534378	36	29335											
OR13F1	138805	broad.mit.edu	37	chr9	107266698	107266698	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctccatcaccattctagAttcccacctgcacaccccta	10	10	3	18	0	3	1	1	0	2	1	5	2	4	1	6	0	1	1	6	0	2	4			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr9:107266698A>G	ENST00000334726.2	+	1	244	c.155A>G	c.(154-156)gAt>gGt	p.D52G		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCATTCTAGATTCCCACCTG	0.483													12	104					0	0	0	0	G	107266698	A	G	107266698	3	3	162	1	0	0	0	0	1	0	0	0	11012	333	12	5	157	5	OR13F1	9	107266698	Missense_Mutation	SNP	A	TCGA-CQ-A4C7-01A-11D-A25D-08		107266698	33946733	37	29336											
STXBP1	6812	broad.mit.edu	37	chr9	130432187	130432187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttccagggaagtcaccCggtctctgaaagatttttct	9	14	8	10	1	4	2	1	1	3	1	6	3	5	3	2	2	0	0	2	2	3	4			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr9:130432187C>T	ENST00000373302.3	+	11	1052	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	STXBP1_ENST00000373299.1_Missense_Mutation_p.R305W	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	305					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GGAAGTCACCCGGTCTCTGAA	0.438													23	132					0	0	0	0	T	130432187	C	T	130432187	3	4	162	1	0	0	0	0	1	0	0	0	15442	643	23	1	955	1	STXBP1	9	130432187	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	23165489	130432187	10781244	38	29337											
ABCA2	20	broad.mit.edu	37	chr9	139910307	139910307	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtgccgtttgttggagagctCcaggtcctcgatcatcctgg	5	12	13	11	2	1	1	1	0	0	1	5	3	4	1	4	3	2	3	4	3	0	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr9:139910307C>G	ENST00000265662.5	-	23	3481	c.3334G>C	c.(3334-3336)Gag>Cag	p.E1112Q	ABCA2_ENST00000371605.3_Missense_Mutation_p.E1111Q|ABCA2_ENST00000341511.6_Missense_Mutation_p.E1112Q			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1111	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTGGAGAGCTCCAGGTCCTCG	0.682													4	61					0	0	0	0	G	139910307	C	G	139910307	3	3	162	1	0	0	0	0	1	0	0	0	32	864	30	2	4084	2	ABCA2	9	139910307	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	9478120	139910307	1303124	39	29338											
DCLRE1C	64421	broad.mit.edu	37	chr10	14950607	14950607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctcgggtatatgtgtctCactgcttagagtagttggtt	6	17	11	7	1	1	1	1	0	1	1	4	1	2	1	1	2	1	5	1	2	4	7			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr10:14950607C>T	ENST00000453695.2	-	14	1963	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	DCLRE1C_ENST00000378249.1_Missense_Mutation_p.E512K|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.E507K|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.E627K|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.E512K|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.E507K|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.E507K|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.E512K|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.E507K|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.E280K	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	627					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	p.E627K(1)|p.E512K(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						ATATGTGTCTCACTGCTTAGA	0.388								Non-homologous end-joining					14	64					0	0	0	0	T	14950607	C	T	14950607	3	4	162	1	0	0	0	0	1	0	0	0	4328	835	29	2	203	2	DCLRE1C	10	14950607	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08		14950607	120584140	40	29339											
ZNF33A	7581	broad.mit.edu	37	chr10	38306271	38306271	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcaacaaggagaagaGccatggaaacaggaggaaga	18	2	15	6	0	0	3	0	0	0	3	0	7	0	6	1	5	4	2	1	5	5	0			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr10:38306271G>A	ENST00000374618.3	+	4	385	c.207G>A	c.(205-207)gaG>gaA	p.E69E	ZNF33A_ENST00000469037.2_Silent_p.E69E|ZNF33A_ENST00000307441.9_Silent_p.E69E|ZNF33A_ENST00000432900.2_Silent_p.E76E|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000458705.2_Silent_p.E69E	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	69	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AAGGAGAAGAGCCATGGAAAC	0.433													5	66					0	0	0	0	A	38306271	G	A	38306271	2	1	162	1	0	0	0	0	0	0	0	1	17949	962	34	4		4	ZNF33A	10	38306271	Silent	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	23355664	38306271	97228476	41	29340											
CTNNA3	29119	broad.mit.edu	37	chr10	67862978	67862978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctcgtgttcctcttcaagGtcagaaacatcctccagttc	9	12	6	14	1	3	1	2	0	1	1	8	1	6	1	4	1	1	2	4	1	2	3			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr10:67862978G>T	ENST00000433211.1	-	14	2088	c.1914C>A	c.(1912-1914)gaC>gaA	p.D638E	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D638E	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	638					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCTCTTCAAGGTCAGAAACAT	0.458													10	39					1.58986e-06	1.73074e-06	1	0	T	67862978	G	T	67862978	3	4	162	1	0	0	0	0	1	0	0	0	4046	1252	44	4	793	4	CTNNA3	10	67862978	Missense_Mutation	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	29556707	67862978	67671769	42	29341											
KCNA4	3739	broad.mit.edu	37	chr11	30032996	30032996	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaagtaaggcaaaatggaGacaatgtcaatgatgttcat	17	10	10	4	0	2	3	2	2	0	1	2	4	2	3	0	2	0	3	0	2	6	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr11:30032996G>C	ENST00000328224.6	-	2	2463	c.1230C>G	c.(1228-1230)gtC>gtG	p.V410V		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	410						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GCAAAATGGAGACAATGTCAA	0.488													5	65					0	0	0	0	C	30032996	G	C	30032996	2	2	162	1	0	0	0	0	0	0	0	1	8058	929	33	2		2	KCNA4	11	30032996	Silent	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08		30032996	104973520	43	29342											
TTC17	55761	broad.mit.edu	37	chr11	43380578	43380578	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccaggctggctcctcagccTttccgccttgctgagtgtgg	3	11	12	15	1	1	1	1	1	0	0	3	1	3	1	5	3	2	3	5	3	0	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr11:43380578T>C	ENST00000039989.4	+	1	88	c.74T>C	c.(73-75)cTt>cCt	p.L25P	TTC17_ENST00000299240.6_Missense_Mutation_p.L25P|RP11-484D2.2_ENST00000526220.1_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	25							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTCCTCAGCCTTTCCGCCTTG	0.716													4	16					0	0	0	0	C	43380578	T	C	43380578	3	2	162	1	0	0	0	0	1	0	0	0	16780	1609	56	5	76	5	TTC17	11	43380578	Missense_Mutation	SNP	T	TCGA-CQ-A4C7-01A-11D-A25D-08	13347582	43380578	91625938	44	29343											
OR5T3	390154	broad.mit.edu	37	chr11	56020573	56020573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccagctatgcttcagacCatgacatcatagtgtcaata	12	12	7	10	0	3	2	3	1	0	1	4	2	4	2	2	0	2	3	2	0	4	5			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr11:56020573C>A	ENST00000303059.3	+	1	898	c.898C>A	c.(898-900)Cat>Aat	p.H300N		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGCTTCAGACCATGACATCAT	0.388													6	89					0.00116845	0.00122544	1	0	A	56020573	C	A	56020573	3	1	162	1	0	0	0	0	1	0	0	0	11254	594	21	4	900	4	OR5T3	11	56020573	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	12639995	56020573	78985943	45	29344											
RCOR2	283248	broad.mit.edu	37	chr11	63679869	63679869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggggccccatcctgctCagcctcccattcctgcagca	6	8	8	19	0	1	0	1	0	0	0	5	0	5	0	7	2	4	3	7	2	0	1			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr11:63679869C>T	ENST00000301459.4	-	11	1552	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CCATCCTGCTCAGCCTCCCAT	0.597													16	105					0	0	0	0	T	63679869	C	T	63679869	3	4	162	1	0	0	0	0	1	0	0	0	13265	835	29	2	414	2	RCOR2	11	63679869	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	7659296	63679869	71326647	46	29345											
DRAP1	10589	broad.mit.edu	37	chr11	65687307	65687307	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgggaaggtggcggcggcGgtgcctgtcatcatctgtat	6	11	16	8	3	3	0	2	0	1	0	3	1	3	1	1	6	1	1	1	6	2	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr11:65687307G>A	ENST00000312515.2	+	2	344	c.99G>A	c.(97-99)gcG>gcA	p.A33A	DRAP1_ENST00000532933.1_Silent_p.A13A|DRAP1_ENST00000527119.1_Intron|DRAP1_ENST00000376991.2_Silent_p.A33A	NM_006442.3	NP_006433.2	Q14919	NC2A_HUMAN	DR1-associated protein 1 (negative cofactor 2 alpha)	33	Histone-fold.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5				READ - Rectum adenocarcinoma(159;0.166)		TGGCGGCGGCGGTGCCTGTCA	0.687													4	52					0	0	0	0	A	65687307	G	A	65687307	2	1	162	1	0	0	0	0	0	0	0	1	4791	1103	39	1		1	DRAP1	11	65687307	Silent	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	2007438	65687307	69319209	47	29346											
CCDC77	84318	broad.mit.edu	37	chr12	550057	550057	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagataatgacaaaacgCtatgaggcattggagcgtcg	14	9	11	7	3	0	3	0	2	0	1	1	4	0	4	0	2	3	2	0	2	5	4			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr12:550057C>T	ENST00000239830.4	+	12	1394	c.1215C>T	c.(1213-1215)cgC>cgT	p.R405R	CCDC77_ENST00000412006.2_Silent_p.R373R|CCDC77_ENST00000422000.1_Silent_p.R373R|CCDC77_ENST00000540180.1_Silent_p.R373R	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	405						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TGACAAAACGCTATGAGGCAT	0.448													5	39					0	0	0	0	T	550057	C	T	550057	2	4	162	1	0	0	0	0	0	0	0	1	2878	784	28	4		4	CCDC77	12	550057	Silent	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08		550057	133301838	48	29347											
NELL2	4753	broad.mit.edu	37	chr12	44917200	44917200	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcgacaatcatatccGccatccaaattgaagcaaat	16	8	6	11	2	1	1	1	1	0	0	4	3	3	2	3	1	1	1	3	1	5	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr12:44917200G>A	ENST00000429094.2	-	17	2376	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	NELL2_ENST00000333837.4_Silent_p.G647G|NELL2_ENST00000549027.1_Silent_p.G623G|NELL2_ENST00000551601.1_Silent_p.G576G|NELL2_ENST00000437801.2_Silent_p.G674G|NELL2_ENST00000395487.2_Silent_p.G623G|NELL2_ENST00000452445.2_Silent_p.G624G	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	624	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AATCATATCCGCCATCCAAAT	0.443													9	71					0	0	0	0	A	44917200	G	A	44917200	2	1	162	1	0	0	0	0	0	0	0	1	10404	1074	38	1		1	NELL2	12	44917200	Silent	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	44367143	44917200	88934695	49	29348											
AMIGO2	347902	broad.mit.edu	37	chr12	47472100	47472100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaacagtcacagacaaatGggtttccatgaaggtagatg	14	8	13	6	0	1	3	1	1	0	2	2	4	2	4	1	3	1	2	1	3	4	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr12:47472100G>A	ENST00000266581.4	-	2	1152	c.686C>T	c.(685-687)cCa>cTa	p.P229L	AMIGO2_ENST00000429635.1_Missense_Mutation_p.P229L|AMIGO2_ENST00000550413.1_Missense_Mutation_p.P229L|AMIGO2_ENST00000321382.3_Missense_Mutation_p.P229L	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	229	LRRCT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					ACAGACAAATGGGTTTCCATG	0.428													10	34					0	0	0	0	A	47472100	G	A	47472100	3	1	162	1	0	0	0	0	1	0	0	0	576	1348	47	4	886	4	AMIGO2	12	47472100	Missense_Mutation	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	2554900	47472100	86379795	50	29349											
RNF113B	140432	broad.mit.edu	37	chr13	98828923	98828923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagatgtcaggctggtaatCccagcgcacagtggcgcgca	9	6	14	12	3	1	1	1	0	0	1	2	1	2	1	1	3	1	5	1	3	1	1			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr13:98828923C>T	ENST00000267291.6	-	1	596	c.568G>A	c.(568-570)Gat>Aat	p.D190N	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	190							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GGCTGGTAATCCCAGCGCACA	0.612													12	51					0	0	0	0	T	98828923	C	T	98828923	3	4	162	1	0	0	0	0	1	0	0	0	13513	855	30	2	408	2	RNF113B	13	98828923	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08		98828923	16340955	51	29350											
RABGGTA	5875	broad.mit.edu	37	chr14	24736895	24736895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtgcagcacacgcacctCggcatactccatcttgagca	10	7	9	15	2	1	1	0	1	1	0	3	1	2	1	2	2	4	5	2	2	1	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr14:24736895C>T	ENST00000399409.3	-	13	1807	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	RABGGTA_ENST00000216840.6_Missense_Mutation_p.E442K|RABGGTA_ENST00000560777.1_Missense_Mutation_p.E51K	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	442					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		ACACGCACCTCGGCATACTCC	0.617													6	18					0	0	0	0	T	24736895	C	T	24736895	3	4	162	1	0	0	0	0	1	0	0	0	13049	893	31	1	395	1	RABGGTA	14	24736895	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08		24736895	82612645	52	29351											
CLEC14A	161198	broad.mit.edu	37	chr14	38724551	38724551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccgatttcgtccgcgatgCaagtaactgagatcgggagc	9	8	13	11	6	0	1	0	1	0	1	3	5	1	2	2	1	3	2	2	1	2	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr14:38724551C>A	ENST00000342213.2	-	1	1023	c.677G>T	c.(676-678)tGc>tTc	p.C226F		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	226						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GTCCGCGATGCAAGTAACTGA	0.652													35	117					6.53348e-20	7.49172e-20	1	0	A	38724551	C	A	38724551	3	1	162	1	0	0	0	0	1	0	0	0	3529	710	25	4	799	4	CLEC14A	14	38724551	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	13987656	38724551	68624989	53	29352											
FBLN5	10516	broad.mit.edu	37	chr14	92353600	92353600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcggcagatgaaagagcCgtaggtgttgacgcaggttt	11	8	15	7	3	0	4	0	2	0	2	0	4	0	4	1	3	2	5	1	3	2	3			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr14:92353600C>T	ENST00000267620.10	-	8	968	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	FBLN5_ENST00000342058.4_Missense_Mutation_p.G226S|FBLN5_ENST00000556154.1_Missense_Mutation_p.G231S			Q9UBX5	FBLN5_HUMAN	fibulin 5	226	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				ATGAAAGAGCCGTAGGTGTTG	0.522													21	132					0	0	0	0	T	92353600	C	T	92353600	3	4	162	1	0	0	0	0	1	0	0	0	5745	652	23	1	690	1	FBLN5	14	92353600	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	53629049	92353600	14995940	54	29353											
ITPK1	3705	broad.mit.edu	37	chr14	93483111	93483111	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggatgatgacgtccagGgggccctgctcctcgatcgg	5	10	15	11	3	0	2	0	2	0	0	4	4	2	3	3	4	1	1	3	4	0	1			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr14:93483111G>A	ENST00000267615.6	-	4	329	c.156C>T	c.(154-156)ccC>ccT	p.P52P	ITPK1_ENST00000555495.1_5'UTR|ITPK1_ENST00000354313.3_Silent_p.P52P|ITPK1_ENST00000556603.2_Silent_p.P52P|ITPK1_ENST00000556954.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	52					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TGACGTCCAGGGGGCCCTGCT	0.582													10	54					0	0	0	0	A	93483111	G	A	93483111	2	1	162	1	0	0	0	0	0	0	0	1	7969	1219	43	4		4	ITPK1	14	93483111	Silent	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	1129511	93483111	13866429	55	29354											
GRIN2A	2903	broad.mit.edu	37	chr16	9858783	9858783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttttcttcaatgtgcactCcatgaatgcagctgtagatg	9	15	8	9	0	3	2	1	1	2	1	4	2	4	2	1	0	3	4	1	0	3	4			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr16:9858783C>T	ENST00000396573.2	-	14	2927	c.2618G>A	c.(2617-2619)gGa>gAa	p.G873E	GRIN2A_ENST00000562109.1_Missense_Mutation_p.G873E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G873E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G873E|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G873E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G716E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	873					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AATGTGCACTCCATGAATGCA	0.468													6	72					0	0	0	0	T	9858783	C	T	9858783	3	4	162	1	0	0	0	0	1	0	0	0	6829	855	30	2	1780	2	GRIN2A	16	9858783	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08		9858783	80495970	56	29355											
IL4R	3566	broad.mit.edu	37	chr16	27363939	27363942	+	Frame_Shift_Del	DEL	AGGG	AGGG	-																															tgaagtctgggatttcctacAgggcacgggtgagggcctgg																										TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr16:27363939_27363942delAGGG	ENST00000395762.2	+	7	851_854	c.592_595delAGGG	c.(592-597)cafs	p.RA198fs	IL4R_ENST00000449195.1_Frame_Shift_Del_p.RA198fs|IL4R_ENST00000380922.3_Frame_Shift_Del_p.RA183fs|IL4R_ENST00000543915.2_Frame_Shift_Del_p.RA198fs|IL4R_ENST00000170630.2_Frame_Shift_Del_p.RA198fs	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	198	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GATTTCCTACAGGGCACGGGTGAG	0.544													10	120	---	---	---	---					-	27363942	AGGG	-	27363939	7	5	162	1	0	1	0	1	0	0	0	0	7751	179	7	0	610	0	IL4R	16	27363939	Frame_Shift_Del	DEL	AGGG	TCGA-CQ-A4C7-01A-11D-A25D-08	17505156	27363939	62990814	57	29356											
PRR14	78994	broad.mit.edu	37	chr16	30666196	30666196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgctgagggcactgcgtCtgtcagcccccggcccccaa	5	6	13	17	2	2	1	1	1	1	0	2	1	2	1	4	3	3	3	4	3	1	0			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr16:30666196C>T	ENST00000542965.2	+	7	1361	c.905C>T	c.(904-906)tCt>tTt	p.S302F	PRR14_ENST00000300835.4_Missense_Mutation_p.S302F|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	302	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GGCACTGCGTCTGTCAGCCCC	0.642													4	39					0	0	0	0	T	30666196	C	T	30666196	3	4	162	1	0	0	0	0	1	0	0	0	12666	913	32	2	931	2	PRR14	16	30666196	Missense_Mutation	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08	3302257	30666196	59688557	58	29357											
MT1E	4493	broad.mit.edu	37	chr16	56660685	56660685	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagctgtgccagacgaaaaaAagcatcctctgggtctgggt	11	8	13	9	1	2	1	0	0	2	1	3	3	3	1	2	2	3	2	2	2	3	0	rs117777471	by1000genomes	TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr16:56660685A>G	ENST00000330439.6	+	2	390	c.336A>G	c.(334-336)aaA>aaG	p.K112K	MT1E_ENST00000306061.6_Intron|MT1E_ENST00000568293.1_Intron			P04732	MT1E_HUMAN	metallothionein 1E	0						cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										AGACGAAAAAAAGCATCCTCT	0.542													3	25					0	0	0	0	G	56660685	A	G	56660685	2	3	162	1	0	0	0	0	0	0	0	1	9969	29	1	5		5	MT1E	16	56660685	Silent	SNP	A	TCGA-CQ-A4C7-01A-11D-A25D-08	25994489	56660685	33694068	59	29358											
TP53	7157	broad.mit.edu	37	chr17	7577025	7577025	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgcttgcttacctcgctTagtgctccctgggggcagct	3	13	11	14	1	0	0	0	0	0	0	3	0	2	0	3	2	5	6	3	2	2	3			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr17:7577025T>A	ENST00000420246.2	-	8	1045	c.913A>T	c.(913-915)Aag>Tag	p.K305*	TP53_ENST00000445888.2_Nonsense_Mutation_p.K305*|TP53_ENST00000455263.2_Nonsense_Mutation_p.K305*|TP53_ENST00000359597.4_Nonsense_Mutation_p.K305*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.K305*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	305	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		K -> E (in a sporadic cancer; somatic mutation).|K -> M (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation; loss of nuclear localization).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K305*(19)|p.0?(8)|p.?(3)|p.L265_K305del41(1)|p.K305E(1)|p.K305fs*32(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTACCTCGCTTAGTGCTCCCT	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	34					0	0	0	0	A	7577025	T	A	7577025	4	1	162	1	0	0	0	0	0	1	0	0	16476	1763	61	5	373	5	TP53	17	7577025	Nonsense_Mutation	SNP	T	TCGA-CQ-A4C7-01A-11D-A25D-08		7577025	73618185	60	29359											
UNC45B	146862	broad.mit.edu	37	chr17	33475352	33475352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagctccaggactacaagGccgccacaaatagctacagc	13	5	8	15	1	0	0	0	0	0	0	2	1	2	1	4	2	5	2	4	2	5	3			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr17:33475352G>T	ENST00000268876.5	+	2	167	c.70G>T	c.(70-72)Gcc>Tcc	p.A24S	UNC45B_ENST00000591048.1_Missense_Mutation_p.A24S|UNC45B_ENST00000433649.1_Missense_Mutation_p.A24S|UNC45B_ENST00000394570.2_Missense_Mutation_p.A24S|UNC45B_ENST00000378449.1_Missense_Mutation_p.A24S	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	24					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGACTACAAGGCCGCCACAAA	0.587													25	50					1.75199e-13	1.98251e-13	1	0	T	33475352	G	T	33475352	3	4	162	1	0	0	0	0	1	0	0	0	17085	1203	42	4	72	4	UNC45B	17	33475352	Missense_Mutation	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	25898327	33475352	47719858	61	29360											
LAMA3	3909	broad.mit.edu	37	chr18	21511041	21511041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcagacaaggaacctgcagGtcactctggaagatggttac	12	9	11	9	0	3	2	2	0	1	2	3	4	3	4	1	4	3	2	1	4	4	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr18:21511041G>A	ENST00000313654.9	+	65	8693	c.8452G>A	c.(8452-8454)Gtc>Atc	p.V2818I	LAMA3_ENST00000587184.1_Missense_Mutation_p.V1153I|LAMA3_ENST00000269217.6_Missense_Mutation_p.V1209I|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.V2762I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2818	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAACCTGCAGGTCACTCTGGA	0.388													33	66					0	0	0	0	A	21511041	G	A	21511041	3	1	162	1	0	0	0	0	1	0	0	0	8660	1261	44	4	8885	4	LAMA3	18	21511041	Missense_Mutation	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08		21511041	56566207	62	29361											
SLC35E1	79939	broad.mit.edu	37	chr19	16666183	16666183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagccaggagcaggagcGtccagggccactggtagacg	10	4	16	11	2	0	2	0	1	0	1	1	4	1	4	3	4	3	2	3	4	1	1			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:16666183G>A	ENST00000595753.1	-	5	799	c.782C>T	c.(781-783)aCg>aTg	p.T261M	CTD-3222D19.2_ENST00000409035.1_Intron	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	261					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GAGCAGGAGCGTCCAGGGCCA	0.597													4	50					0	0	0	0	A	16666183	G	A	16666183	3	1	162	1	0	0	0	0	1	0	0	0	14672	1145	40	1	458	1	SLC35E1	19	16666183	Missense_Mutation	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08		16666183	42462800	63	29362											
ZNF91	7644	broad.mit.edu	37	chr19	23543067	23543067	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttgtaggttttctctctgGtatgaattctcttatgttca	7	21	7	6	0	4	1	1	1	3	0	6	1	4	1	0	2	0	4	0	2	4	8			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:23543067G>C	ENST00000300619.7	-	4	2919	c.2714C>G	c.(2713-2715)aCc>aGc	p.T905S	ZNF91_ENST00000397082.2_Missense_Mutation_p.T873S|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	905						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTCTCTCTGGTATGAATTCT	0.393													4	30					0	0	0	0	C	23543067	G	C	23543067	3	2	162	1	0	0	0	0	1	0	0	0	18293	1261	44	4	865	4	ZNF91	19	23543067	Missense_Mutation	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	6876884	23543067	35585916	64	29363											
PAFAH1B3	5050	broad.mit.edu	37	chr19	42806160	42806160	+	Frame_Shift_Del	DEL	T	T	-																															tgaagacgacttcgggttccTtatctttgctgtcagccacg																										TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:42806160delT	ENST00000538771.1	-	3	466	c.110delA	c.(109-111)agfs	p.K37fs	PAFAH1B3_ENST00000262890.3_Frame_Shift_Del_p.K37fs	NM_001145939.1|NM_001145940.1	NP_001139411.1|NP_001139412.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	37					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				TTCGGGTTCCTTATCTTTGCT	0.647													2	4	---	---	---	---					-	42806160	T	-	42806160	7	5	162	1	0	1	0	1	0	0	0	0	11457	1609	56	0	601	0	PAFAH1B3	19	42806160	Frame_Shift_Del	DEL	T	TCGA-CQ-A4C7-01A-11D-A25D-08	19263093	42806160	16322823	65	29364											
ZNF761	388561	broad.mit.edu	37	chr19	53958230	53958230	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgcacatatttcagaccGaagagaaaattgataatcaa	20	9	6	6	1	2	3	2	1	0	2	2	5	2	3	1	0	1	1	1	0	7	4			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:53958230G>A	ENST00000454407.1	+	0	922							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATTTCAGACCGAAGAGAAAAT	0.388													7	87					0	0	0	0	A	53958230	G	A	53958230	1	1	162	0	1	0	0	0	0	0	0	0	18230	1059	37	1		1	ZNF761	19	53958230	RNA	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	11152070	53958230	5170753	66	29365											
NLRP5	126206	broad.mit.edu	37	chr19	56538774	56538774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctccgttcaccctcatacGcagtctgctgaggaaggtcc	7	9	10	15	2	3	1	2	1	1	0	5	2	5	2	4	2	2	3	4	2	2	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:56538774G>A	ENST00000390649.3	+	7	1175	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	392	NACHT.					mitochondrion|nucleolus	ATP binding	p.R392H(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACCCTCATACGCAGTCTGCTG	0.552													5	18					0	0	0	0	A	56538774	G	A	56538774	3	1	162	1	0	0	0	0	1	0	0	0	10550	1087	38	1	1201	1	NLRP5	19	56538774	Missense_Mutation	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	2580544	56538774	2590209	67	29366											
ZNF417	147687	broad.mit.edu	37	chr19	58420104	58420104	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttataaggcttttgtccagaAtgaactcttttatgaacatg	12	16	7	6	0	1	3	0	2	1	1	2	3	2	3	1	1	2	1	1	1	6	6			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:58420104A>G	ENST00000312026.5	-	3	1706	c.1542T>C	c.(1540-1542)caT>caC	p.H514H	ZNF417_ENST00000536263.1_Silent_p.H315H|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Silent_p.H513H	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TTTGTCCAGAATGAACTCTTT	0.408													19	68					0	0	0	0	G	58420104	A	G	58420104	2	3	162	1	0	0	0	0	0	0	0	1	17989	98	4	5		5	ZNF417	19	58420104	Silent	SNP	A	TCGA-CQ-A4C7-01A-11D-A25D-08	1881330	58420104	708879	68	29367											
DNMT3L	29947	broad.mit.edu	37	chr21	45680690	45680690	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactcaccttctatatttcGctggttagccttgacttcat	8	16	5	12	1	3	1	2	1	1	0	4	1	3	1	2	1	1	2	2	1	3	7			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr21:45680690G>A	ENST00000270172.3	-	3	622	c.139C>T	c.(139-141)Cga>Tga	p.R47*	DNMT3L_ENST00000418993.1_Nonsense_Mutation_p.R47*	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	47	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TCTATATTTCGCTGGTTAGCC	0.448													12	77					0	0	0	0	A	45680690	G	A	45680690	4	1	162	1	0	0	0	0	0	1	0	0	4714	1095	38	1	1064	1	DNMT3L	21	45680690	Nonsense_Mutation	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08		45680690	2449205	69	29368											
KIAA1644	85352	broad.mit.edu	37	chr22	44692710	44692710	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcagtggaagccaaagtgGtagcggcctttgtggtctgt	7	10	17	7	1	1	0	0	0	1	0	1	1	1	1	2	5	2	2	2	5	3	2			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr22:44692710G>A	ENST00000381176.4	-	3	255	c.123C>T	c.(121-123)taC>taT	p.Y41Y		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	41						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				AGCCAAAGTGGTAGCGGCCTT	0.547													10	170					0	0	0	0	A	44692710	G	A	44692710	2	1	162	1	0	0	0	0	0	0	0	1	8301	1256	44	4		4	KIAA1644	22	44692710	Silent	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08		44692710	6611856	70	29369											
SH3KBP1	30011	broad.mit.edu	37	chrX	19587305	19587305	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcaatctttggactgtcacCcctacattaaaaacacaagc	14	10	5	12	0	3	0	2	0	1	0	3	1	3	1	2	1	3	0	2	1	6	3			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chrX:19587305C>T	ENST00000397821.3	-	13	1590	c.1298_splice	c.e13-1	p.G434_splice	SH3KBP1_ENST00000541422.1_Splice_Site_p.G173_splice|SH3KBP1_ENST00000379698.4_Splice_Site_p.G397_splice|SH3KBP1_ENST00000379716.1_Splice_Site_p.G196_splice	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	434					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GGACTGTCACCCCTACATTAA	0.473													6	37					0	0	0	0	T	19587305	C	T	19587305	5	4	162	1	0	0	0	0	0	0	1	0	14343	637	22	4	721	4	SH3KBP1	23	19587305	Splice_Site	SNP	C	TCGA-CQ-A4C7-01A-11D-A25D-08		19587305	135683255	71	29370											
WNK3	65267	broad.mit.edu	37	chrX	54359869	54359869	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcattgcagccttaattcTctcatctttgggggatgatt	8	17	8	8	0	4	1	2	1	2	0	5	2	4	2	1	2	2	1	1	2	1	6			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chrX:54359869T>C	ENST00000354646.2	-	2	676	c.238A>G	c.(238-240)Aga>Gga	p.R80G	WNK3_ENST00000375169.3_Missense_Mutation_p.R80G|WNK3_ENST00000375159.2_Missense_Mutation_p.R80G	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	80					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GCCTTAATTCTCTCATCTTTG	0.398													7	38					0	0	0	0	C	54359869	T	C	54359869	3	2	162	1	0	0	0	0	1	0	0	0	17475	1559	54	5	5256	5	WNK3	23	54359869	Missense_Mutation	SNP	T	TCGA-CQ-A4C7-01A-11D-A25D-08	34772564	54359869	100910691	72	29371											
PCDH11X	27328	broad.mit.edu	37	chrX	91134233	91134233	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgactgtggctatccagtGacgaccttcgaggtacctgt	7	12	11	11	2	1	2	0	2	1	0	3	4	2	2	3	2	1	2	3	2	2	3			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chrX:91134233G>A	ENST00000373094.1	+	2	3839	c.2994G>A	c.(2992-2994)gtG>gtA	p.V998V	PCDH11X_ENST00000298274.8_Silent_p.V998V|PCDH11X_ENST00000373088.1_Silent_p.V998V|PCDH11X_ENST00000373097.1_Silent_p.V998V|PCDH11X_ENST00000395337.2_Silent_p.V998V|PCDH11X_ENST00000504220.1_Silent_p.V998V|PCDH11X_ENST00000361724.1_Silent_p.V998V|PCDH11X_ENST00000361655.2_Silent_p.V998V|PCDH11X_ENST00000406881.1_Silent_p.V998V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	998					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCTATCCAGTGACGACCTTCG	0.438													17	77					0	0	0	0	A	91134233	G	A	91134233	2	1	162	1	0	0	0	0	0	0	0	1	11579	1277	45	2		2	PCDH11X	23	91134233	Silent	SNP	G	TCGA-CQ-A4C7-01A-11D-A25D-08	36774364	91134233	64136327	73	29372											
AADACL3	126767	broad.mit.edu	37	chr1	12785713	12785713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggatgtgatgtgctcgcCcctgattgcagaagatgaca	9	10	12	10	1	0	5	0	3	0	2	1	6	0	6	3	1	2	2	3	1	1	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:12785713C>T	ENST00000332530.3	+	3	819	c.593C>T	c.(592-594)cCc>cTc	p.P198L	AADACL3_ENST00000359318.5_Missense_Mutation_p.P268L	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	268							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTGCTCGCCCCTGATTGCA	0.493													14	55					0	0	0	0	T	12785713	C	T	12785713	3	4	163	1	0	0	0	0	1	0	0	0	12	623	22	4	821	4	AADACL3	1	12785713	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08		12785713	236464908	1	29373											
SNRNP40	9410	broad.mit.edu	37	chr1	31769513	31769513	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccggctcctgggccagacCccgctcccaacagcaactca	8	4	9	20	2	1	1	1	0	0	1	3	1	3	1	6	2	3	3	6	2	2	0			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:31769513C>A	ENST00000263694.4	-	1	104	c.86G>T	c.(85-87)gGg>gTg	p.G29V	SNRNP40_ENST00000446633.2_Missense_Mutation_p.G29V	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	29						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						TGGGCCAGACCCCGCTCCCAA	0.637													7	49					0.0293803	0.0298222	1	0	A	31769513	C	A	31769513	3	1	163	1	0	0	0	0	1	0	0	0	14944	623	22	4	1027	4	SNRNP40	1	31769513	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	18983800	31769513	217481108	2	29374											
RBBP4	5928	broad.mit.edu	37	chr1	33138283	33138283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccagaagatgcagaagacGggccaccagagttgttggta	12	6	13	10	1	0	5	0	0	0	5	0	5	0	5	4	2	1	4	4	2	3	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:33138283G>A	ENST00000373493.5	+	10	1243	c.1084G>A	c.(1084-1086)Ggg>Agg	p.G362R	RBBP4_ENST00000458695.2_Missense_Mutation_p.G327R|RBBP4_ENST00000544435.1_Missense_Mutation_p.G110R|RBBP4_ENST00000414241.3_Missense_Mutation_p.G361R|RBBP4_ENST00000373485.1_Missense_Mutation_p.G362R	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	362					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TGCAGAAGACGGGCCACCAGA	0.368													3	25					0	0	0	0	A	33138283	G	A	33138283	3	1	163	1	0	0	0	0	1	0	0	0	13183	1116	39	1	1122	1	RBBP4	1	33138283	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	1368770	33138283	216112338	3	29375											
ZMYM6	9204	broad.mit.edu	37	chr1	35453023	35453023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agattattattttggtgattCataaaagggtgaattatcca	14	16	8	3	0	1	3	1	2	0	1	2	3	2	3	1	2	0	0	1	2	6	7			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:35453023C>T	ENST00000357182.4	-	16	3887	c.3660G>A	c.(3658-3660)atG>atA	p.M1220I	ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1220					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTTGGTGATTCATAAAAGGGT	0.368													12	57					0	0	0	0	T	35453023	C	T	35453023	3	4	163	1	0	0	0	0	1	0	0	0	17799	826	29	2	321	2	ZMYM6	1	35453023	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	2314740	35453023	213797598	4	29376											
MCOLN2	255231	broad.mit.edu	37	chr1	85422147	85422147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgtcaatattcagtgtctCattagaaggaaacatggtcc	12	13	9	7	0	3	1	3	0	1	1	5	2	4	2	1	2	1	1	1	2	5	4			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:85422147C>T	ENST00000370608.3	-	4	599	c.532G>A	c.(532-534)Gag>Aag	p.E178K	MCOLN2_ENST00000284027.5_Missense_Mutation_p.E150K|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	178						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTCAGTGTCTCATTAGAAGGA	0.408													19	112					0	0	0	0	T	85422147	C	T	85422147	3	4	163	1	0	0	0	0	1	0	0	0	9465	835	29	2	1212	2	MCOLN2	1	85422147	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	49969124	85422147	163828474	5	29377											
KPRP	448834	broad.mit.edu	37	chr1	152733428	152733428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctcgcccagggcagtGtgagattccagagccacgtc	7	8	11	15	2	0	2	0	1	0	2	4	3	2	2	5	1	1	1	5	1	0	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:152733428G>C	ENST00000368773.1	+	2	1422	c.1364G>C	c.(1363-1365)tGt>tCt	p.C455S	KPRP_ENST00000606109.1_Missense_Mutation_p.C455S	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	455	Pro-rich.					cytoplasm		p.C455Y(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGGGCAGTGTGAGATTCCA	0.612													14	95					0	0	0	0	C	152733428	G	C	152733428	3	2	163	1	0	0	0	0	1	0	0	0	8488	1377	48	4	1366	4	KPRP	1	152733428	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	67311281	152733428	96517193	6	29378											
RABGAP1L	9910	broad.mit.edu	37	chr1	174188383	174188383	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaatttgttttggttcctCagtatgcagatgataattct	11	17	8	5	0	2	3	1	1	1	2	3	3	3	3	1	1	1	4	1	1	4	7			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:174188383C>T	ENST00000251507.4	+	2	262	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	30					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TTTGGTTCCTCAGTATGCAGA	0.318													7	47					0	0	0	0	T	174188383	C	T	174188383	4	4	163	1	0	0	0	0	0	1	0	0	13047	827	29	2	90	2	RABGAP1L	1	174188383	Nonsense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	21454955	174188383	75062238	7	29379											
NEK2	4751	broad.mit.edu	37	chr1	211840550	211840550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctctgctagtctctcacGaacacaaagctcctgttctt	8	13	6	14	1	4	0	1	0	3	0	7	1	6	0	2	0	3	3	2	0	3	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:211840550G>A	ENST00000366999.4	-	7	1147	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	NEK2_ENST00000366998.3_Missense_Mutation_p.R337C|NEK2_ENST00000540251.1_Missense_Mutation_p.R294C|NEK2_ENST00000462283.1_5'UTR	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	337	Interaction with PCNT.|Necessary for interaction with MAD1L1.|Required for microtubule binding and for localization to the centrosomes.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		AGTCTCTCACGAACACAAAGC	0.378													7	98					0	0	0	0	A	211840550	G	A	211840550	3	1	163	1	0	0	0	0	1	0	0	0	10394	1058	37	1	336	1	NEK2	1	211840550	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	37652167	211840550	37410071	8	29380											
OR2T12	127064	broad.mit.edu	37	chr1	248458047	248458047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatttagtaaaggggtgaaCatagtatagaaggctgacac	15	9	13	4	0	0	3	0	2	0	1	0	4	0	4	0	4	1	3	0	4	8	6			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr1:248458047C>T	ENST00000317996.1	-	1	833	c.834G>A	c.(832-834)atG>atA	p.M278I		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AAGGGGTGAACATAGTATAGA	0.473													30	119					0	0	0	0	T	248458047	C	T	248458047	3	4	163	1	0	0	0	0	1	0	0	0	11090	478	17	4	131	4	OR2T12	1	248458047	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	36617497	248458047	792574	9	29381											
NBAS	51594	broad.mit.edu	37	chr2	15319196	15319196	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagtttcagagatggaagCaggagggactggttaagcag	14	7	16	4	0	1	2	1	0	0	2	1	6	1	5	0	4	2	4	0	4	3	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:15319196C>T	ENST00000281513.5	-	51	6781	c.6756G>A	c.(6754-6756)ctG>ctA	p.L2252L	NBAS_ENST00000441750.1_Silent_p.L2132L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2252										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGATGGAAGCAGGAGGGACT	0.552													6	48					0	0	0	0	T	15319196	C	T	15319196	2	4	163	1	0	0	0	0	0	0	0	1	10256	697	25	4		4	NBAS	2	15319196	Silent	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08		15319196	227880177	10	29382											
SLC8A1	6546	broad.mit.edu	37	chr2	40656621	40656621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccctctgcttgccagctCgatacctcttgtagacatac	7	12	6	16	1	2	1	0	0	2	1	4	2	3	1	4	0	5	3	4	0	3	5			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:40656621C>A	ENST00000406785.1	-	2	989	c.800G>T	c.(799-801)cGa>cTa	p.R267L	SLC8A1_ENST00000408028.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R267L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R267L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	267	Calmodulin-binding (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.R267L(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)	CTTGCCAGCTCGATACCTCTT	0.433													100	123					7.62712e-44	8.37123e-44	1	0	A	40656621	C	A	40656621	3	1	163	1	0	0	0	0	1	0	0	0	14794	884	31	3	2269	3	SLC8A1	2	40656621	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	25337425	40656621	202542752	11	29383											
CALM2	805	broad.mit.edu	37	chr2	47389661	47389661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaattgaagacttaccatCagcatctacttcattaatca	16	12	3	10	0	4	2	3	1	1	1	4	2	4	2	1	0	3	1	1	0	6	5			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:47389661C>G	ENST00000272298.7	-	3	332	c.175G>C	c.(175-177)Gat>Cat	p.D59H	CALM2_ENST00000422269.1_Intron|CALM2_ENST00000409563.1_Missense_Mutation_p.D106H	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	59	EF-hand 2.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GACTTACCATCAGCATCTACT	0.398													5	101					0	0	0	0	G	47389661	C	G	47389661	3	3	163	1	0	0	0	0	1	0	0	0	2610	826	29	2	290	2	CALM2	2	47389661	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	6733040	47389661	195809712	12	29384											
PCYOX1	51449	broad.mit.edu	37	chr2	70503972	70503972	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgttgaatcgaaaaatgtcGaatattacttttctcaactt	13	15	5	8	3	1	1	1	1	1	0	4	3	1	1	1	0	2	1	1	0	7	6			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:70503972G>A	ENST00000433351.2	+	6	994	c.966G>A	c.(964-966)tcG>tcA	p.S322S	PCYOX1_ENST00000264441.5_Intron|PCYOX1_ENST00000545138.1_Silent_p.S244S|PCYOX1_ENST00000505044.2_Silent_p.S245S	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	322					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GAAAAATGTCGAATATTACTT	0.368													4	46					0	0	0	0	A	70503972	G	A	70503972	2	1	163	1	0	0	0	0	0	0	0	1	11679	1045	37	1		1	PCYOX1	2	70503972	Silent	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	23114311	70503972	172695401	13	29385											
TMEM131	23505	broad.mit.edu	37	chr2	98392478	98392478	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgctgaagaggttttcctTtccctgaggataaaaattaa	12	13	9	7	1	0	3	0	2	0	1	2	4	2	4	2	2	1	2	2	2	5	5			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:98392478T>C	ENST00000186436.5	-	32	4376	c.4148A>G	c.(4147-4149)aAa>aGa	p.K1383R		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1383	Lys-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AGGTTTTCCTTTCCCTGAGGA	0.438													5	36					0	0	0	0	C	98392478	T	C	98392478	3	2	163	1	0	0	0	0	1	0	0	0	16138	1841	64	5	1543	5	TMEM131	2	98392478	Missense_Mutation	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08	27888506	98392478	144806895	14	29386											
MAP3K2	10746	broad.mit.edu	37	chr2	128066276	128066276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacagatggtctgaagccGtttgctggccccaaaatctc	10	9	11	11	1	2	3	0	1	2	2	3	4	2	3	3	2	2	2	3	2	3	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:128066276G>A	ENST00000409947.1	-	16	1801	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	MAP3K2_ENST00000344908.5_Missense_Mutation_p.R507W			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	507	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		GTCTGAAGCCGTTTGCTGGCC	0.458													6	100					0	0	0	0	A	128066276	G	A	128066276	3	1	163	1	0	0	0	0	1	0	0	0	9319	1144	40	1	348	1	MAP3K2	2	128066276	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	29673798	128066276	115133097	15	29387											
ARL5A	26225	broad.mit.edu	37	chr2	152659794	152659794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaggtcagtagagatcatCtaatcttaagtcgtgacatc	14	11	9	7	1	4	3	2	1	2	2	6	4	4	3	0	1	0	1	0	1	4	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:152659794C>G	ENST00000295087.8	-	6	847	c.536G>C	c.(535-537)aGa>aCa	p.R179T	ARL5A_ENST00000428992.2_Missense_Mutation_p.R142T	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	179					small GTPase mediated signal transduction	intracellular	GTP binding			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		TAGAGATCATCTAATCTTAAG	0.313													4	27					0	0	0	0	G	152659794	C	G	152659794	3	3	163	1	0	0	0	0	1	0	0	0	943	913	32	2	7	2	ARL5A	2	152659794	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	24593518	152659794	90539579	16	29388											
SATB2	23314	broad.mit.edu	37	chr2	200193463	200193463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactgctggaggccgaggaGaccatgctcacattgggatt	9	8	15	9	1	1	1	1	0	0	1	1	6	1	4	2	5	2	2	2	5	0	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:200193463G>A	ENST00000443023.1	-	7	2632	c.1167C>T	c.(1165-1167)gtC>gtT	p.V389V	SATB2_ENST00000260926.5_Silent_p.V448V|SATB2_ENST00000428695.1_Silent_p.V330V|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000457245.1_Silent_p.V448V|SATB2_ENST00000417098.1_Silent_p.V448V			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	448						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGGCCGAGGAGACCATGCTCA	0.527													8	55					0	0	0	0	A	200193463	G	A	200193463	2	1	163	1	0	0	0	0	0	0	0	1	13940	929	33	2		2	SATB2	2	200193463	Silent	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	47533669	200193463	43005910	17	29389											
CXCR2	3579	broad.mit.edu	37	chr2	218999925	218999925	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaacttctatagtggcaTcctgctactggcctgcatca	9	12	8	12	0	3	0	2	0	1	0	4	0	4	0	2	2	4	3	2	2	4	4			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:218999925T>A	ENST00000318507.2	+	3	828	c.401T>A	c.(400-402)aTc>aAc	p.I134N		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	134					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TATAGTGGCATCCTGCTACTG	0.527													4	55					0	0	0	0	A	218999925	T	A	218999925	3	1	163	1	0	0	0	0	1	0	0	0	4123	1435	50	5	403	5	CXCR2	2	218999925	Missense_Mutation	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08	18806462	218999925	24199448	18	29390											
TRIP12	9320	broad.mit.edu	37	chr2	230725191	230725191	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgggtgccttagaattaGattttctactctcaggaggg	8	15	11	7	0	2	2	1	0	2	2	3	3	2	3	1	3	2	0	1	3	4	6			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr2:230725191G>C	ENST00000389044.4	-	3	323	c.155C>G	c.(154-156)tCt>tGt	p.S52C	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Missense_Mutation_p.S52C|TRIP12_ENST00000283943.5_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.S52C			Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	34					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTTAGAATTAGATTTTCTACT	0.383													15	69					0	0	0	0	C	230725191	G	C	230725191	3	2	163	1	0	0	0	0	1	0	0	0	16651	957	33	2		2	TRIP12	2	230725191	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	11725266	230725191	12474182	19	29391											
NUP210	23225	broad.mit.edu	37	chr3	13421096	13421096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgaggctgctctgtcccaGctgcagtgcagtgaccatcg	7	8	13	13	2	1	1	0	1	1	0	3	3	2	1	2	1	4	5	2	1	0	0	rs149916127		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:13421096G>C	ENST00000254508.5	-	7	1025	c.943C>G	c.(943-945)Ctg>Gtg	p.L315V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	315					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTCTGTCCCAGCTGCAGTGCA	0.587													4	41					0	0	0	0	C	13421096	G	C	13421096	3	2	163	1	0	0	0	0	1	0	0	0	10831	962	34	4	4856	4	NUP210	3	13421096	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08		13421096	184601334	20	29392											
SPATA12	353324	broad.mit.edu	37	chr3	57107805	57107805	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaggcactagactcttccaGactcgttccatggccaccca	10	8	8	15	1	1	2	0	0	1	2	4	3	3	2	4	2	0	2	4	2	2	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:57107805G>C	ENST00000334325.1	+	2	758	c.83G>C	c.(82-84)aGa>aCa	p.R28T	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	28										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		GACTCTTCCAGACTCGTTCCA	0.552													8	36					0	0	0	0	C	57107805	G	C	57107805	3	2	163	1	0	0	0	0	1	0	0	0	15089	942	33	2	85	2	SPATA12	3	57107805	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	43686709	57107805	140914625	21	29393											
ACOX2	8309	broad.mit.edu	37	chr3	58508313	58508313	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtctgtaaatgctgcacTgagtcctttatgagcctgaa	10	12	11	8	0	1	3	0	3	1	0	2	3	2	3	2	1	3	3	2	1	4	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:58508313T>C	ENST00000302819.5	-	12	1833	c.1542A>G	c.(1540-1542)tcA>tcG	p.S514S	ACOX2_ENST00000459701.2_Silent_p.S500S|ACOX2_ENST00000481527.1_5'UTR	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	514					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AATGCTGCACTGAGTCCTTTA	0.522													8	33					0	0	0	0	C	58508313	T	C	58508313	2	2	163	1	0	0	0	0	0	0	0	1	159	1567	55	5		5	ACOX2	3	58508313	Silent	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08	1400508	58508313	139514117	22	29394											
ALG1L	200810	broad.mit.edu	37	chr3	125652459	125652459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagggctggccactcgCggagatgcatcaccagcctg	8	5	13	15	2	1	1	1	0	0	1	2	2	1	1	4	3	3	3	4	3	0	0			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:125652459C>T	ENST00000340333.3	-	2	222	c.59G>A	c.(58-60)cGc>cAc	p.R20H		NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	20							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						TGGCCACTCGCGGAGATGCAT	0.622													6	20					0	0	0	0	T	125652459	C	T	125652459	3	4	163	1	0	0	0	0	1	0	0	0	517	768	27	1	524	1	ALG1L	3	125652459	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	67144146	125652459	72369971	23	29395											
ABTB1	80325	broad.mit.edu	37	chr3	127396078	127396078	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccacctgcagacccccgcctCcgggaggacatggcgctgct	6	5	12	18	3	0	1	0	0	0	1	1	3	1	3	6	3	2	3	6	3	0	0			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:127396078C>T	ENST00000468137.1	+	7	901	c.285C>T	c.(283-285)ctC>ctT	p.L95L	ABTB1_ENST00000453791.2_Silent_p.L95L|ABTB1_ENST00000232744.8_Silent_p.L237L|ABTB1_ENST00000393363.3_Silent_p.L95L			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	237						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						ACCCCCGCCTCCGGGAGGACA	0.667													3	14					0	0	0	0	T	127396078	C	T	127396078	2	4	163	1	0	0	0	0	0	0	0	1	102	842	30	2		2	ABTB1	3	127396078	Silent	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	1743619	127396078	70626352	24	29396											
ATP2C1	27032	broad.mit.edu	37	chr3	130694231	130694231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaacaagtaattaagtactGtactacataccagagcaaag	18	8	7	8	1	0	1	0	0	0	1	0	2	0	1	1	0	6	4	1	0	9	6	rs137853014		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:130694231G>A	ENST00000510168.1	+	18	2019	c.1469G>A	c.(1468-1470)tGt>tAt	p.C490Y	ATP2C1_ENST00000504948.1_Missense_Mutation_p.C474Y|ATP2C1_ENST00000505330.1_Missense_Mutation_p.C474Y|ATP2C1_ENST00000504381.1_Missense_Mutation_p.C435Y|ATP2C1_ENST00000533801.2_Missense_Mutation_p.C485Y|ATP2C1_ENST00000328560.8_Missense_Mutation_p.C490Y|ATP2C1_ENST00000393221.4_Missense_Mutation_p.C524Y|ATP2C1_ENST00000508532.1_Missense_Mutation_p.C490Y|ATP2C1_ENST00000422190.2_Missense_Mutation_p.C490Y|ATP2C1_ENST00000428331.2_Missense_Mutation_p.C490Y|ATP2C1_ENST00000359644.3_Missense_Mutation_p.C490Y|ATP2C1_ENST00000513801.1_Missense_Mutation_p.C474Y|ATP2C1_ENST00000507488.2_Missense_Mutation_p.C474Y			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	490			C -> F (in HHD).		actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	ATTAAGTACTGTACTACATAC	0.423									Hailey-Hailey disease				13	74					0	0	0	0	A	130694231	G	A	130694231	3	1	163	1	0	0	0	0	1	0	0	0	1147	1377	48	4	1535	4	ATP2C1	3	130694231	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	3298153	130694231	67328199	25	29397											
MRPL3	11222	broad.mit.edu	37	chr3	131219333	131219333	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccataaaggcatcatgcccaGcttcaaggcaataagaccaa	16	6	7	12	0	2	1	2	0	0	1	2	1	2	1	3	2	2	3	3	2	6	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:131219333G>A	ENST00000264995.3	-	3	457	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	MRPL3_ENST00000425847.2_Silent_p.L131L	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	104					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						ATCATGCCCAGCTTCAAGGCA	0.388													4	67					0	0	0	0	A	131219333	G	A	131219333	2	1	163	1	0	0	0	0	0	0	0	1	9863	962	34	4		4	MRPL3	3	131219333	Silent	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	525102	131219333	66803097	26	29398											
AMOTL2	51421	broad.mit.edu	37	chr3	134086462	134086462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccaggtgggcactgccCgaggtggctgaggaggcctg	5	6	20	10	1	0	1	0	1	0	0	0	3	0	2	3	7	1	2	3	7	0	0			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:134086462C>T	ENST00000514516.1	-	3	1270	c.1092G>A	c.(1090-1092)tcG>tcA	p.S364S	AMOTL2_ENST00000249883.5_Silent_p.S306S|AMOTL2_ENST00000422605.2_Silent_p.S306S|AMOTL2_ENST00000513145.1_Silent_p.S306S	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	306										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGCACTGCCCGAGGTGGCTG	0.677													14	50					0	0	0	0	T	134086462	C	T	134086462	2	4	163	1	0	0	0	0	0	0	0	1	584	639	23	1		1	AMOTL2	3	134086462	Silent	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	2867129	134086462	63935968	27	29399											
EIF2A	83939	broad.mit.edu	37	chr3	150285973	150285973	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgttatagctactgctgtGttggtaatagctagcacaga	11	13	10	7	0	0	1	0	0	0	1	0	1	0	1	0	1	5	7	0	1	6	7			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:150285973G>A	ENST00000460851.1	+	9	814	c.705G>A	c.(703-705)gtG>gtA	p.V235V	EIF2A_ENST00000406576.3_Silent_p.V174V|EIF2A_ENST00000487799.1_Silent_p.V210V|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000383043.3_Silent_p.V21V|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000273435.5_Silent_p.V230V			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	235					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTACTGCTGTGTTGGTAATAG	0.353													9	36					0	0	0	0	A	150285973	G	A	150285973	2	1	163	1	0	0	0	0	0	0	0	1	5031	1364	48	4		4	EIF2A	3	150285973	Silent	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	16199511	150285973	47736457	28	29400											
MME	4311	broad.mit.edu	37	chr3	154898213	154898213	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcactgccgcaagaattcaTacatgaatccagaaaagaag	17	8	7	9	1	2	4	2	1	0	3	3	4	3	4	2	0	2	1	2	0	7	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:154898213T>C	ENST00000460393.1	+	23	2338	c.2218T>C	c.(2218-2220)Tac>Cac	p.Y740H	MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.Y740H|MME_ENST00000492661.1_Missense_Mutation_p.Y740H|MME_ENST00000493237.1_Missense_Mutation_p.Y740H|MME_ENST00000462745.1_Missense_Mutation_p.Y740H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	740					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CAAGAATTCATACATGAATCC	0.428													30	87					0	0	0	0	C	154898213	T	C	154898213	3	2	163	1	0	0	0	0	1	0	0	0	9714	1406	49	5	2304	5	MME	3	154898213	Missense_Mutation	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08	4612240	154898213	43124217	29	29401											
PLCH1	23007	broad.mit.edu	37	chr3	155203374	155203374	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgcctttggctggggcGctagctgtgcgtcgcagaat	4	12	14	11	3	0	1	0	0	0	1	2	1	1	1	2	3	3	4	2	3	2	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:155203374G>A	ENST00000460012.1	-	22	3012	c.2655C>T	c.(2653-2655)agC>agT	p.S885S	PLCH1_ENST00000447496.2_Silent_p.S923S|PLCH1_ENST00000414191.1_Silent_p.S885S|PLCH1_ENST00000334686.6_Silent_p.S885S|PLCH1_ENST00000494598.1_Silent_p.S903S|PLCH1_ENST00000340059.7_Silent_p.S923S			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	923					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGGCTGGGGCGCTAGCTGTGC	0.473													4	66					0	0	0	0	A	155203374	G	A	155203374	2	1	163	1	0	0	0	0	0	0	0	1	12109	1078	38	1		1	PLCH1	3	155203374	Silent	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	305161	155203374	42819056	30	29402											
WDR49	151790	broad.mit.edu	37	chr3	167240192	167240192	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttagaaaataaagaaatTtccttttgaatctcactttc	14	16	3	8	0	1	3	1	1	1	2	5	3	3	3	2	0	0	0	2	0	7	6			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:167240192T>C	ENST00000308378.3	-	12	1934	c.1629A>G	c.(1627-1629)gaA>gaG	p.E543E	WDR49_ENST00000476376.1_Silent_p.E368E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	543										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATAAAGAAATTTCCTTTTGAA	0.313													8	43					0	0	0	0	C	167240192	T	C	167240192	2	2	163	1	0	0	0	0	0	0	0	1	17398	1838	64	5		5	WDR49	3	167240192	Silent	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08	12036818	167240192	30782238	31	29403											
TNIK	23043	broad.mit.edu	37	chr3	170805171	170805171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggaatgggttgagacgCgccccagtccctcagtcggg	6	7	15	13	3	1	1	1	1	0	1	3	3	2	2	4	3	0	1	4	3	1	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr3:170805171C>T	ENST00000436636.2	-	24	3190	c.2846G>A	c.(2845-2847)cGc>cAc	p.R949H	TNIK_ENST00000369326.5_Missense_Mutation_p.R927H|TNIK_ENST00000460047.1_Missense_Mutation_p.R886H|TNIK_ENST00000357327.5_Missense_Mutation_p.R920H|TNIK_ENST00000341852.6_Missense_Mutation_p.R865H|TNIK_ENST00000284483.8_Missense_Mutation_p.R941H|TNIK_ENST00000488470.1_Missense_Mutation_p.R894H|TNIK_ENST00000470834.1_Missense_Mutation_p.R912H|TNIK_ENST00000475336.1_Missense_Mutation_p.R857H|TNIK_ENST00000538048.1_Missense_Mutation_p.R901H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	949	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGTTGAGACGCGCCCCAGTCC	0.582													7	75					0	0	0	0	T	170805171	C	T	170805171	3	4	163	1	0	0	0	0	1	0	0	0	16407	768	27	1	1276	1	TNIK	3	170805171	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	3564979	170805171	27217259	32	29404											
SH3TC1	54436	broad.mit.edu	37	chr4	8239292	8239292	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcagagcacttctacctCaaggccctgtcgctctgcaa	8	9	9	15	1	3	1	1	0	2	1	4	1	3	1	2	2	3	4	2	2	3	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr4:8239292C>T	ENST00000539824.1	+	17	3794	c.3420C>T	c.(3418-3420)ctC>ctT	p.L1140L	SH3TC1_ENST00000245105.3_Silent_p.L1216L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1216							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						ACTTCTACCTCAAGGCCCTGT	0.637													5	13					0	0	0	0	T	8239292	C	T	8239292	2	4	163	1	0	0	0	0	0	0	0	1	14349	813	29	2		2	SH3TC1	4	8239292	Silent	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08		8239292	182914984	33	29405											
GPM6A	2823	broad.mit.edu	37	chr4	176622894	176622894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagggaatgccccccaggCatttgatacagcattcaaaa	14	8	8	11	0	1	1	1	1	0	0	1	2	1	2	3	2	3	2	3	2	5	4			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr4:176622894C>A	ENST00000280187.7	-	3	107	c.62G>T	c.(61-63)tGc>tTc	p.C21F	GPM6A_ENST00000506894.1_Missense_Mutation_p.C10F|GPM6A_ENST00000393658.2_Missense_Mutation_p.C21F|GPM6A_ENST00000515090.1_Missense_Mutation_p.C14F	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	21						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GCCCCCCAGGCATTTGATACA	0.433													6	67					0.000157383	0.000164703	1	0	A	176622894	C	A	176622894	3	1	163	1	0	0	0	0	1	0	0	0	6664	710	25	4	798	4	GPM6A	4	176622894	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	168383602	176622894	14531382	34	29406											
CAPSL	133690	broad.mit.edu	37	chr5	35910084	35910084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttgcattatatacttcacGaaggtcttcgattgttataa	11	18	6	6	2	2	0	1	0	1	0	3	2	2	0	0	1	2	2	0	1	6	10			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr5:35910084G>A	ENST00000397367.2	-	4	535	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	CAPSL_ENST00000397366.1_Missense_Mutation_p.R137C|CAPSL_ENST00000514524.1_Missense_Mutation_p.R137C	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	137	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TATACTTCACGAAGGTCTTCG	0.393													17	100					0	0	0	0	A	35910084	G	A	35910084	3	1	163	1	0	0	0	0	1	0	0	0	2664	1058	37	1	225	1	CAPSL	5	35910084	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08		35910084	145005176	35	29407											
CMYA5	202333	broad.mit.edu	37	chr5	79026749	79026749	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattgaccgtaagtccccgTtaatattgaaaggtgtttct	11	14	8	8	2	1	2	0	2	1	0	2	2	2	2	3	1	0	3	3	1	5	6			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr5:79026749T>C	ENST00000446378.2	+	2	2192	c.2161T>C	c.(2161-2163)Tta>Cta	p.L721L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	721						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAAGTCCCCGTTAATATTGAA	0.453													6	37					0	0	0	0	C	79026749	T	C	79026749	2	2	163	1	0	0	0	0	0	0	0	1	3620	1722	60	5		5	CMYA5	5	79026749	Silent	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08	43116665	79026749	101888511	36	29408											
KIF4B	285643	broad.mit.edu	37	chr5	154393920	154393920	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaatatacgggaggatccTaaggaaggcataaagattgt	17	9	11	4	1	0	1	0	0	0	1	1	4	1	4	1	4	1	1	1	4	8	6			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr5:154393920T>C	ENST00000435029.4	+	1	661	c.501T>C	c.(499-501)ccT>ccC	p.P167P		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	167	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGGAGGATCCTAAGGAAGGCA	0.408													25	112					0	0	0	0	C	154393920	T	C	154393920	2	2	163	1	0	0	0	0	0	0	0	1	8355	1509	53	5		5	KIF4B	5	154393920	Silent	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08	75367171	154393920	26521340	37	29409											
BTNL3	10917	broad.mit.edu	37	chr5	180424310	180424310	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttcccccagcccacagcCaagtggaaaggtccacaagg	11	5	11	14	0	0	0	0	0	0	0	2	1	2	1	5	4	2	1	5	4	3	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr5:180424310C>T	ENST00000342868.6	+	3	679	c.495C>T	c.(493-495)gcC>gcT	p.A165A		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	165	Ig-like V-type.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGCCCACAGCCAAGTGGAAAG	0.522													11	53					0	0	0	0	T	180424310	C	T	180424310	2	4	163	1	0	0	0	0	0	0	0	1	1575	581	21	4		4	BTNL3	5	180424310	Silent	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	26030390	180424310	490950	38	29410											
NRN1	51299	broad.mit.edu	37	chr6	6002627	6002627	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgtcgtccaggccctgCgggtagttggccatgctgtc	3	12	14	12	2	1	0	0	0	1	0	4	0	2	0	3	3	2	3	3	3	1	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr6:6002627C>T	ENST00000244766.2	-	2	376	c.159G>A	c.(157-159)ccG>ccA	p.P53P	NRN1_ENST00000495850.1_5'UTR	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	53						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CCAGGCCCTGCGGGTAGTTGG	0.602													6	63					0	0	0	0	T	6002627	C	T	6002627	2	4	163	1	0	0	0	0	0	0	0	1	10729	755	27	1		1	NRN1	6	6002627	Silent	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08		6002627	165112440	39	29411											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045748	26045748	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccggccaccggtggcgtgaAgaaacctcatcgctaccgcc	8	6	11	16	5	1	2	1	1	0	1	3	2	2	2	6	3	2	1	6	3	3	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr6:26045748A>T	ENST00000540144.1	+	1	110	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGTGGCGTGAAGAAACCTCAT	0.632													11	26					0	0	0	0	T	26045748	A	T	26045748	3	4	163	1	0	0	0	0	1	0	0	0	7207	72	3	5	112	5	HIST1H3C	6	26045748	Missense_Mutation	SNP	A	TCGA-CQ-A4C9-01A-11D-A25D-08	20043121	26045748	145069319	40	29412											
SLC35F1	222553	broad.mit.edu	37	chr6	118475631	118475631	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgttaatctctgtggcccTaggccaggtgttatccctcc	6	13	10	12	0	1	0	0	0	1	0	4	1	3	0	4	3	0	2	4	3	3	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr6:118475631T>A	ENST00000360388.4	+	2	398	c.197T>A	c.(196-198)cTa>cAa	p.L66Q		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	66					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTGTGGCCCTAGGCCAGGTG	0.418													6	77					0	0	0	0	A	118475631	T	A	118475631	3	1	163	1	0	0	0	0	1	0	0	0	14676	1522	53	5	203	5	SLC35F1	6	118475631	Missense_Mutation	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08	92429883	118475631	52639436	41	29413											
LAMA2	3908	broad.mit.edu	37	chr6	129828664	129828664	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgatggctgcgtcaggAatctccacatggcagaggcc	9	8	13	11	1	2	2	1	1	1	1	3	3	2	3	2	4	1	3	2	4	1	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr6:129828664A>C	ENST00000421865.2	+	62	8783	c.8734A>C	c.(8734-8736)Aat>Cat	p.N2912H		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2912	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGCGTCAGGAATCTCCACAT	0.453													13	87					0	0	0	0	C	129828664	A	C	129828664	3	2	163	1	0	0	0	0	1	0	0	0	8659	246	9	5	8980	5	LAMA2	6	129828664	Missense_Mutation	SNP	A	TCGA-CQ-A4C9-01A-11D-A25D-08	11353033	129828664	41286403	42	29414											
PCLO	27445	broad.mit.edu	37	chr7	82544994	82544994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcacataactatgcaatCtagaggaagactgtaaaggt	15	10	8	8	0	2	2	1	0	1	2	2	3	2	3	1	2	2	2	1	2	7	5			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:82544994C>G	ENST00000423517.2	-	7	12645	c.12308G>C	c.(12307-12309)aGa>aCa	p.R4103T	PCLO_ENST00000437081.1_Missense_Mutation_p.R823T|PCLO_ENST00000333891.8_Missense_Mutation_p.R4103T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4034					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTATGCAATCTAGAGGAAGA	0.448													3	31					0	0	0	0	G	82544994	C	G	82544994	3	3	163	1	0	0	0	0	1	0	0	0	11654	913	32	2	3213	2	PCLO	7	82544994	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08		82544994	76593669	43	29415											
ZAN	7455	broad.mit.edu	37	chr7	100350592	100350592	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatctccccagaaaaacTcaccatccccacagaaaaac	17	4	2	18	0	2	2	1	0	1	2	4	2	3	2	6	0	2	0	6	0	4	0	rs112032841		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:100350592T>C	ENST00000542585.1	+	0	3012				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACTCACCATCCCC	0.512													9	92					0	0	0	0	C	100350592	T	C	100350592	1	2	163	0	1	0	0	0	0	0	0	0	17609	1551	54	5		5	ZAN	7	100350592	RNA	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08	17805598	100350592	58788071	44	29416											
RELN	5649	broad.mit.edu	37	chr7	103155722	103155722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgctggggtactggggCgctgctgaaggtgtccagca	6	9	16	10	1	1	1	1	1	0	0	2	1	2	1	1	5	4	5	1	5	2	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:103155722C>T	ENST00000424685.2	-	50	8188	c.8029G>A	c.(8029-8031)Gcc>Acc	p.A2677T	RELN_ENST00000343529.5_Missense_Mutation_p.A2677T|RELN_ENST00000428762.1_Missense_Mutation_p.A2677T			P78509	RELN_HUMAN	reelin	2677					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTACTGGGGCGCTGCTGAAG	0.542													19	25					0	0	0	0	T	103155722	C	T	103155722	3	4	163	1	0	0	0	0	1	0	0	0	13302	768	27	1	2417	1	RELN	7	103155722	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	2805130	103155722	55982941	45	29417											
LAMB1	3912	broad.mit.edu	37	chr7	107642158	107642158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactcgggttcctgagcgcGcactcgggctctgcacaggg	6	7	15	13	4	1	1	0	1	1	0	4	2	2	1	1	3	3	4	1	3	1	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:107642158G>A	ENST00000393561.1	-	1	314	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	LAMB1_ENST00000222399.6_Missense_Mutation_p.R20C|LAMB1_ENST00000393560.1_Missense_Mutation_p.R20C			P07942	LAMB1_HUMAN	laminin, beta 1	20	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTGAGCGCGCACTCGGGCT	0.642													3	21					0	0	0	0	A	107642158	G	A	107642158	3	1	163	1	0	0	0	0	1	0	0	0	8663	1087	38	1	5430	1	LAMB1	7	107642158	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	4486436	107642158	51496505	46	29418											
WNT2	7472	broad.mit.edu	37	chr7	116963002	116963002	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgagccaggtcaagagCagagggagccagagccagat	12	3	18	8	0	1	5	1	1	0	4	1	6	1	6	3	4	4	1	3	4	1	0			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:116963002C>A	ENST00000265441.3	-	1	341	c.42G>T	c.(40-42)ctG>ctT	p.L14L		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	14					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AGGTCAAGAGCAGAGGGAGCC	0.622													8	44					1.76689e-08	1.90825e-08	1	0	A	116963002	C	A	116963002	2	1	163	1	0	0	0	0	0	0	0	1	17482	697	25	4		4	WNT2	7	116963002	Silent	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	9320844	116963002	42175661	47	29419											
LMOD2	442721	broad.mit.edu	37	chr7	123302858	123302858	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccccaaaactccccaaaaaAgtccagactgtgaggagccg	14	5	8	14	1	0	2	0	1	0	1	3	3	3	3	6	1	2	0	6	1	5	0			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:123302858A>T	ENST00000458573.2	+	2	1375	c.1218A>T	c.(1216-1218)aaA>aaT	p.K406N	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	406	Pro-rich.					cytoskeleton	actin binding|tropomyosin binding										TCCCCAAAAAAGTCCAGACTG	0.567													7	42					0	0	0	0	T	123302858	A	T	123302858	3	4	163	1	0	0	0	0	1	0	0	0	8912	69	3	5	1224	5	LMOD2	7	123302858	Missense_Mutation	SNP	A	TCGA-CQ-A4C9-01A-11D-A25D-08	6339856	123302858	35835805	48	29420											
GPR37	2861	broad.mit.edu	37	chr7	124404324	124404324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcgtgctgtttccccggCggggacccccaggctcatgg	3	9	15	14	3	1	0	1	0	0	0	3	1	2	1	4	6	1	4	4	6	0	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr7:124404324C>T	ENST00000303921.2	-	1	1357	c.707G>A	c.(706-708)cGc>cAc	p.R236H		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	236						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTCCCCGGCGGGGACCCCC	0.642													10	54					0	0	0	0	T	124404324	C	T	124404324	3	4	163	1	0	0	0	0	1	0	0	0	6740	768	27	1	1142	1	GPR37	7	124404324	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	1101466	124404324	34734339	49	29421											
WRN	7486	broad.mit.edu	37	chr8	31030518	31030518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatttcctacagacttcatCtgcagagagaaagagacgat	14	10	8	9	1	2	4	1	0	1	4	3	7	3	4	1	0	2	1	1	0	3	4			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr8:31030518C>T	ENST00000298139.5	+	35	4448	c.4199C>T	c.(4198-4200)tCt>tTt	p.S1400F	RP11-363L24.3_ENST00000521252.1_RNA|RP11-363L24.3_ENST00000523365.1_RNA	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1400					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAGACTTCATCTGCAGAGAGA	0.358			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				9	44					0	0	0	0	T	31030518	C	T	31030518	3	4	163	1	0	0	0	0	1	0	0	0	17498	913	32	2	4333	2	WRN	8	31030518	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08		31030518	115333504	50	29422											
SOX17	64321	broad.mit.edu	37	chr8	55370808	55370808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgggccgagtcgctgaGccccatcggggacatgaagg	7	5	15	14	3	0	2	0	2	0	0	2	4	0	3	5	4	1	1	5	4	1	0			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr8:55370808G>T	ENST00000297316.4	+	1	314	c.110G>T	c.(109-111)aGc>aTc	p.S37I		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	37					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GAGTCGCTGAGCCCCATCGGG	0.751													3	15					0.004672	0.00477818	1	0	T	55370808	G	T	55370808	3	4	163	1	0	0	0	0	1	0	0	0	15035	971	34	4	112	4	SOX17	8	55370808	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	24340290	55370808	90993214	51	29423											
CYP7A1	1581	broad.mit.edu	37	chr8	59410811	59410811	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcagaagtagcaaagtgaaAttttttccaatcaaaatatt	17	12	6	6	1	1	2	1	1	0	1	2	2	2	2	1	0	1	3	1	0	8	6			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr8:59410811A>T	ENST00000301645.3	-	2	435	c.298T>A	c.(298-300)Ttt>Att	p.F100I		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	100			F -> S.		bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GCAAAGTGAAATTTTTTCCAA	0.323									Neonatal Giant Cell Hepatitis				9	101					0	0	0	0	T	59410811	A	T	59410811	3	4	163	1	0	0	0	0	1	0	0	0	4228	101	4	5	1236	5	CYP7A1	8	59410811	Missense_Mutation	SNP	A	TCGA-CQ-A4C9-01A-11D-A25D-08	4040003	59410811	86953211	52	29424											
CHD7	55636	broad.mit.edu	37	chr8	61778373	61778373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccttgaaggcagcgatgccGaggagagcctggataagact	11	6	14	10	2	0	3	0	1	0	2	0	7	0	4	3	3	3	1	3	3	2	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr8:61778373G>A	ENST00000423902.2	+	38	9354	c.8875G>A	c.(8875-8877)Gag>Aag	p.E2959K	CHD7_ENST00000524602.1_Missense_Mutation_p.E910K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2959					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGCGATGCCGAGGAGAGCCT	0.522													6	32					0	0	0	0	A	61778373	G	A	61778373	3	1	163	1	0	0	0	0	1	0	0	0	3359	1059	37	1	9021	1	CHD7	8	61778373	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	2367562	61778373	84585649	53	29425											
CNBD1	168975	broad.mit.edu	37	chr8	88365940	88365940	+	Frame_Shift_Del	DEL	A	A	-																															tgagattagcgtccttcttcAagttcctttcacgtgcacaa																										TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr8:88365940delA	ENST00000518476.1	+	10	1280	c.1229delA	c.(1228-1230)cafs	p.Q410fs		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	410										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GTCCTTCTTCAAGTTCCTTTC	0.323													8	46	---	---	---	---					-	88365940	A	-	88365940	7	5	163	1	0	1	0	1	0	0	0	0	3621	130	5	0	1267	0	CNBD1	8	88365940	Frame_Shift_Del	DEL	A	TCGA-CQ-A4C9-01A-11D-A25D-08	26587567	88365940	57998082	54	29426											
ZFPM2	23414	broad.mit.edu	37	chr8	106814845	106814845	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgagcggacgaccacGtctcccaaaaggctgctgga	10	6	12	13	3	2	1	0	1	2	0	3	4	2	3	2	3	2	2	2	3	2	0			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr8:106814845G>A	ENST00000407775.2	+	8	2785	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	ZFPM2_ENST00000520492.1_Silent_p.T713T|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.T713T|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.T576T	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	845					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGACGACCACGTCTCCCAAAA	0.478													9	12					0	0	0	0	A	106814845	G	A	106814845	2	1	163	1	0	0	0	0	0	0	0	1	17753	1132	40	1		1	ZFPM2	8	106814845	Silent	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	18448905	106814845	39549177	55	29427											
NFIB	4781	broad.mit.edu	37	chr9	14150263	14150263	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttccctgggttatgggCgctgaggaataagacaaaga	12	8	13	8	1	0	3	0	1	0	2	1	4	1	4	2	3	0	3	2	3	4	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr9:14150263C>T	ENST00000380959.3	-	5	1160	c.685_splice	c.e5-1	p.T229_splice	NFIB_ENST00000397575.3_Splice_Site_p.T229_splice|NFIB_ENST00000397581.2_Splice_Site_p.T229_splice|NFIB_ENST00000543693.1_5'UTR|NFIB_ENST00000380953.1_Splice_Site_p.T229_splice|NFIB_ENST00000397579.2_Splice_Site_p.T229_splice|NFIB_ENST00000380934.4_Splice_Site_p.T255_splice|NFIB_ENST00000380924.1_5'UTR	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	229					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GGGTTATGGGCGCTGAGGAAT	0.438			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								93	88					0	0	0	0	T	14150263	C	T	14150263	5	4	163	1	0	0	0	0	0	0	1	0	10441	782	27	1	595	1	NFIB	9	14150263	Splice_Site	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08		14150263	127063168	56	29428											
ELAVL2	1993	broad.mit.edu	37	chr9	23765013	23765013	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaatcccacagaccccggtCcaaggctctgctgcccacga	11	5	8	17	2	1	1	0	0	1	1	3	2	3	1	5	2	2	2	5	2	3	0			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr9:23765013C>T	ENST00000380110.4	-	2	133	c.66G>A	c.(64-66)tgG>tgA	p.W22*	ELAVL2_ENST00000380117.1_Intron|ELAVL2_ENST00000544538.1_Intron|ELAVL2_ENST00000223951.6_Intron|ELAVL2_ENST00000397312.2_Intron			Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	0					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AGACCCCGGTCCAAGGCTCTG	0.463													6	64					0	0	0	0	T	23765013	C	T	23765013	4	4	163	1	0	0	0	0	0	1	0	0	5088	870	30	2		2	ELAVL2	9	23765013	Nonsense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	9614750	23765013	117448418	57	29429											
PNPLA7	375775	broad.mit.edu	37	chr9	140400147	140400147	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggccagggtctcatcCgtgtgactctctgagtgctg	4	12	13	12	1	2	2	1	2	2	0	5	2	3	2	2	2	2	2	2	2	0	0			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr9:140400147C>A	ENST00000406427.1	-	14	1728	c.1392G>T	c.(1390-1392)acG>acT	p.T464T	PNPLA7_ENST00000277531.4_Silent_p.T439T|PNPLA7_ENST00000371457.1_Silent_p.T45T	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	439				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGGTCTCATCCGTGTGACTCT	0.587													5	101					1.23904e-05	1.3068e-05	1	0	A	140400147	C	A	140400147	2	1	163	1	0	0	0	0	0	0	0	1	12242	639	23	3		3	PNPLA7	9	140400147	Silent	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	116635134	140400147	813284	58	29430											
PTCHD3	374308	broad.mit.edu	37	chr10	27702585	27702585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggtgctcctcctggaggCggagaagcggtaggagtcgt	6	9	17	9	4	0	1	0	0	0	1	4	4	2	3	2	6	2	2	2	6	2	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr10:27702585C>T	ENST00000438700.3	-	1	712	c.595G>A	c.(595-597)Gcc>Acc	p.A199T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	199					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTCCTGGAGGCGGAGAAGCGG	0.602													30	85					0	0	0	0	T	27702585	C	T	27702585	3	4	163	1	0	0	0	0	1	0	0	0	12813	768	27	1	1724	1	PTCHD3	10	27702585	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08		27702585	107832162	59	29431											
PSAP	5660	broad.mit.edu	37	chr10	73591605	73591605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactcaccgccgctcacctCagtggcattgtccttcagca	7	9	7	18	2	4	0	4	0	0	0	5	0	5	0	5	1	1	3	5	1	0	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr10:73591605C>T	ENST00000394936.3	-	3	394	c.247G>A	c.(247-249)Gag>Aag	p.E83K	PSAP_ENST00000394934.1_Missense_Mutation_p.E83K			P07602	SAP_HUMAN	prosaposin	83	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCGCTCACCTCAGTGGCATTG	0.512													14	108					0	0	0	0	T	73591605	C	T	73591605	3	4	163	1	0	0	0	0	1	0	0	0	12722	835	29	2	1391	2	PSAP	10	73591605	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	45889020	73591605	61943142	60	29432											
CYP2C8	1558	broad.mit.edu	37	chr10	96802818	96802818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaattacatgatcaatCtcttcctggactttagctga	10	14	6	11	0	2	2	1	2	1	0	4	3	3	3	2	1	3	1	2	1	4	4			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr10:96802818C>A	ENST00000371270.3	-	7	1072	c.978G>T	c.(976-978)gaG>gaT	p.E326D	CYP2C8_ENST00000535898.1_Missense_Mutation_p.E224D|CYP2C8_ENST00000539050.1_Missense_Mutation_p.E240D	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	326					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	p.E326D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CATGATCAATCTCTTCCTGGA	0.438													8	57					5.18039e-06	5.50672e-06	1	0	A	96802818	C	A	96802818	3	1	163	1	0	0	0	0	1	0	0	0	4199	912	32	2	506	2	CYP2C8	10	96802818	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	23211213	96802818	38731929	61	29433											
DNTT	1791	broad.mit.edu	37	chr10	98095647	98095647	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttaactatctcctatccaGcagtttgagagagacctccg	10	13	7	11	1	1	2	0	1	1	2	4	4	3	2	4	0	2	2	4	0	3	5			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr10:98095647G>A	ENST00000371174.2	+	10	1461		c.e10-1		DNTT_ENST00000419175.1_Intron			P04053	TDT_HUMAN	DNA nucleotidylexotransferase						DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CTCCTATCCAGCAGTTTGAGA	0.403													5	129					0	0	0	0	A	98095647	G	A	98095647	5	1	163	1	0	0	0	0	0	0	1	0	4716	985	34	4	1397	4	DNTT	10	98095647	Splice_Site	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	1292829	98095647	37439100	62	29434											
SEC23IP	11196	broad.mit.edu	37	chr10	121662313	121662313	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccgtcccctccaggtTccttcttcagtgcagtcacc	4	13	7	17	1	3	0	2	0	1	0	6	0	6	0	6	1	2	2	6	1	0	4			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr10:121662313T>G	ENST00000369075.3	+	3	771	c.699T>G	c.(697-699)gtT>gtG	p.V233V	SEC23IP_ENST00000543134.1_Silent_p.V22V	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	233	Interaction with SEC23A.|Pro-rich.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CCCTCCAGGTTCCTTCTTCAG	0.468													19	52					0	0	0	0	G	121662313	T	G	121662313	2	3	163	1	0	0	0	0	0	0	0	1	14080	1770	62	5		5	SEC23IP	10	121662313	Silent	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08	23566666	121662313	13872434	63	29435											
JAKMIP3	282973	broad.mit.edu	37	chr10	133966476	133966476	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagaacctgaccaatgaGgagcaggtggttgtcataca	12	8	13	8	0	1	3	1	2	0	1	1	4	1	4	2	3	4	3	2	3	3	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr10:133966476G>A	ENST00000298622.4	+	16	2154	c.2016G>A	c.(2014-2016)gaG>gaA	p.E672E	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGACCAATGAGGAGCAGGTGG	0.582													2	1					0	0	0	0	A	133966476	G	A	133966476	2	1	163	1	0	0	0	0	0	0	0	1	7995	991	35	4		4	JAKMIP3	10	133966476	Silent	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	12304163	133966476	1568271	64	29436											
MOB2	81532	broad.mit.edu	37	chr11	1491582	1491582	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaggatgaagtggacgtaGagcgtgttcaagtgtccgtg	11	9	16	5	3	1	3	1	1	0	2	2	5	2	5	1	2	1	2	1	2	4	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr11:1491582G>C	ENST00000329957.6	-	5	816	c.627C>G	c.(625-627)ctC>ctG	p.L209L	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	178						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						AGTGGACGTAGAGCGTGTTCA	0.597													9	68					0	0	0	0	C	1491582	G	C	1491582	2	2	163	1	0	0	0	0	0	0	0	1	9751	929	33	2		2	MOB2	11	1491582	Silent	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08		1491582	133514934	65	29437											
ABCC8	6833	broad.mit.edu	37	chr11	17482118	17482118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccggcgaagcccagcaggtCggccaagatgcggaaagtgc	10	3	15	13	4	0	1	0	0	0	1	1	3	0	2	3	4	4	1	3	4	3	0			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr11:17482118C>T	ENST00000302539.4	-	6	1053	c.928G>A	c.(928-930)Gac>Aac	p.D310N	ABCC8_ENST00000389817.3_Missense_Mutation_p.D310N	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	310	ABC transmembrane type-1 1.		D -> N (in HHF1).		carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCCAGCAGGTCGGCCAAGATG	0.647													9	54					0	0	0	0	T	17482118	C	T	17482118	3	4	163	1	0	0	0	0	1	0	0	0	58	884	31	1	3953	1	ABCC8	11	17482118	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	15990536	17482118	117524398	66	29438											
FAT3	120114	broad.mit.edu	37	chr11	92533669	92533669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtacagccctgccttttCacaaagcacatacgtagctg	10	11	7	13	1	1	0	1	0	0	0	1	0	1	0	2	0	6	4	2	0	4	6			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr11:92533669C>T	ENST00000298047.6	+	9	7507	c.7490C>T	c.(7489-7491)tCa>tTa	p.S2497L	FAT3_ENST00000525166.1_Missense_Mutation_p.S2347L|FAT3_ENST00000409404.2_Missense_Mutation_p.S2497L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2497	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTGCCTTTTCACAAAGCACA	0.498										TCGA Ovarian(4;0.039)			4	41					0	0	0	0	T	92533669	C	T	92533669	3	4	163	1	0	0	0	0	1	0	0	0	5736	838	29	2	7524	2	FAT3	11	92533669	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	75051551	92533669	42472847	67	29439											
CASP4	837	broad.mit.edu	37	chr11	104821749	104821749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcagctccattcctcggaGgcagatggtcaaactctgta	10	10	10	11	1	3	1	2	0	1	1	6	2	5	2	2	3	2	3	2	3	2	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr11:104821749G>A	ENST00000444739.2	-	4	1359	c.449C>T	c.(448-450)cCt>cTt	p.P150L	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_Missense_Mutation_p.P94L	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	150					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ATTCCTCGGAGGCAGATGGTC	0.463													9	91					0	0	0	0	A	104821749	G	A	104821749	3	1	163	1	0	0	0	0	1	0	0	0	2698	1000	35	4	704	4	CASP4	11	104821749	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	12288080	104821749	30184767	68	29440											
SLCO1C1	53919	broad.mit.edu	37	chr12	20885955	20885955	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctacttgggatcatctgtCtttggttacctcctatttct	5	19	6	11	0	5	0	1	0	4	0	6	1	6	1	2	2	2	1	2	2	3	6			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr12:20885955C>G	ENST00000381552.1	+	10	1667	c.1299C>G	c.(1297-1299)gtC>gtG	p.V433V	SLCO1C1_ENST00000540354.1_Silent_p.V384V|SLCO1C1_ENST00000545604.1_Silent_p.V433V|SLCO1C1_ENST00000266509.2_Silent_p.V433V|SLCO1C1_ENST00000545102.1_Silent_p.V315V			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	433					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GATCATCTGTCTTTGGTTACC	0.443													11	91					0	0	0	0	G	20885955	C	G	20885955	2	3	163	1	0	0	0	0	0	0	0	1	14813	900	32	2		2	SLCO1C1	12	20885955	Silent	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08		20885955	112965940	69	29441											
DDX11	1663	broad.mit.edu	37	chr12	31242413	31242413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgctgtgtggacatgcagaGaagcaggcacggtagccact	10	6	14	11	2	0	1	0	0	0	1	0	3	0	2	2	3	3	5	2	3	2	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr12:31242413G>A	ENST00000407793.2	+	8	1120	c.869G>A	c.(868-870)aGa>aAa	p.R290K	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.R264K|DDX11_ENST00000350437.4_Missense_Mutation_p.R290K|DDX11_ENST00000545668.1_Missense_Mutation_p.R290K|DDX11_ENST00000542838.1_Missense_Mutation_p.R290K	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	290	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	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)					GACATGCAGAGAAGCAGGCAC	0.517										Multiple Myeloma(12;0.14)			3	28					0	0	0	0	A	31242413	G	A	31242413	3	1	163	1	0	0	0	0	1	0	0	0	4375	942	33	2	895	2	DDX11	12	31242413	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	10356458	31242413	102609482	70	29442											
VPS33A	65082	broad.mit.edu	37	chr12	122729266	122729266	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccttaccaccatcgccCtgtttcttaggtgcaaattt	8	14	7	12	1	1	0	0	0	1	0	3	0	2	0	4	2	2	2	4	2	3	4			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr12:122729266C>T	ENST00000267199.4	-	7	931	c.819G>A	c.(817-819)caG>caA	p.Q273Q	RP11-512M8.5_ENST00000535844.1_Silent_p.Q234Q	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	273					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CACCATCGCCCTGTTTCTTAG	0.488													12	67					0	0	0	0	T	122729266	C	T	122729266	2	4	163	1	0	0	0	0	0	0	0	1	17297	680	24	4		4	VPS33A	12	122729266	Silent	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	91486853	122729266	11122629	71	29443											
FGF9	2254	broad.mit.edu	37	chr13	22246293	22246293	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaatcttccccaatggtaCtatccagggaaccaggaaag	15	7	9	10	0	1	1	0	0	1	1	3	3	3	3	4	3	2	1	4	3	6	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr13:22246293C>G	ENST00000382353.5	+	1	772	c.242C>G	c.(241-243)aCt>aGt	p.T81S		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	81					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		CCCAATGGTACTATCCAGGGA	0.458													11	52					0	0	0	0	G	22246293	C	G	22246293	3	3	163	1	0	0	0	0	1	0	0	0	5904	565	20	4	244	4	FGF9	13	22246293	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08		22246293	92923585	72	29444											
FLT1	2321	broad.mit.edu	37	chr13	29001349	29001349	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaaccacttgattgtaggTtgagggataccatatgcggt	11	11	12	7	1	0	3	0	2	0	1	0	4	0	4	2	3	3	2	2	3	4	6	rs151270578		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr13:29001349T>G	ENST00000282397.4	-	10	1634	c.1383A>C	c.(1381-1383)caA>caC	p.Q461H	FLT1_ENST00000539099.1_Missense_Mutation_p.Q461H|FLT1_ENST00000541932.1_Missense_Mutation_p.Q461H	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	461	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGATTGTAGGTTGAGGGATAC	0.463													4	67					0	0	0	0	G	29001349	T	G	29001349	3	3	163	1	0	0	0	0	1	0	0	0	5986	1722	60	5	2980	5	FLT1	13	29001349	Missense_Mutation	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08	6755056	29001349	86168529	73	29445											
MTUS2	23281	broad.mit.edu	37	chr13	29933536	29933536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccagacagctgggcgttGcgcaaggggagctgaagagg	11	4	18	8	2	0	4	0	1	0	3	0	5	0	5	1	4	3	4	1	4	2	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr13:29933536G>A	ENST00000431530.3	+	6	3131	c.3073G>A	c.(3073-3075)Gcg>Acg	p.A1025T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1015	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCTGGGCGTTGCGCAAGGGGA	0.642													5	16					0	0	0	0	A	29933536	G	A	29933536	3	1	163	1	0	0	0	0	1	0	0	0	10036	1319	46	4	3095	4	MTUS2	13	29933536	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	932187	29933536	85236342	74	29446											
MYCBP2	23077	broad.mit.edu	37	chr13	77619532	77619532	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctaaaaagtgtgggcatttCtgcacactccacatcccaga	12	10	7	12	0	2	1	0	0	2	1	4	1	4	1	2	1	1	2	2	1	3	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr13:77619532C>G	ENST00000407578.2	-	83	14284	c.14018G>C	c.(14017-14019)aGa>aCa	p.R4673T	MYCBP2_ENST00000357337.6_Missense_Mutation_p.R4635T|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R4635T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTGGGCATTTCTGCACACTCC	0.478													7	40					0	0	0	0	G	77619532	C	G	77619532	3	3	163	1	0	0	0	0	1	0	0	0	10088	913	32	2	22	2	MYCBP2	13	77619532	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	47685996	77619532	37550346	75	29447											
ADPRHL1	113622	broad.mit.edu	37	chr13	114079468	114079468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaaattgccatttagcttCaaagtaaaaccagtgctcct	15	12	5	9	0	1	0	1	0	0	0	2	0	2	0	3	0	4	3	3	0	6	6			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr13:114079468C>G	ENST00000356501.4	-	5	602	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q	ADPRHL1_ENST00000375418.3_Missense_Mutation_p.E225Q	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	225					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CATTTAGCTTCAAAGTAAAAC	0.443													5	67					0	0	0	0	G	114079468	C	G	114079468	3	3	163	1	0	0	0	0	1	0	0	0	332	835	29	2	403	2	ADPRHL1	13	114079468	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	36459936	114079468	1090410	76	29448											
C14orf119	55017	broad.mit.edu	37	chr14	23567243	23567243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcagtgagccagacttcGtggcaaagttttaccaagca	12	10	10	9	1	1	2	1	1	0	1	2	2	1	2	2	1	3	4	2	1	3	4			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr14:23567243G>A	ENST00000319074.4	+	2	1232	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	C14orf119_ENST00000554203.1_Missense_Mutation_p.V126M	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN	chromosome 14 open reading frame 119	126										central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		GCCAGACTTCGTGGCAAAGTT	0.498													8	72					0	0	0	0	A	23567243	G	A	23567243	3	1	163	1	0	0	0	0	1	0	0	0	1754	1145	40	1	378	1	C14orf119	14	23567243	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08		23567243	83782297	77	29449											
LTBP2	4053	broad.mit.edu	37	chr14	75078171	75078171	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccgtgagccgccctcgCggcggggttgggggcgcagc	3	4	18	16	6	0	1	0	1	0	0	1	1	0	1	4	5	2	2	4	5	0	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr14:75078171C>T	ENST00000261978.4	-	1	863	c.477G>A	c.(475-477)ccG>ccA	p.P159P	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Silent_p.P159P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	159					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCCGCCCTCGCGGCGGGGTTG	0.731													7	17					0	0	0	0	T	75078171	C	T	75078171	2	4	163	1	0	0	0	0	0	0	0	1	9138	755	27	1		1	LTBP2	14	75078171	Silent	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	51510928	75078171	32271369	78	29450											
NRXN3	9369	broad.mit.edu	37	chr14	80158520	80158520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttaaactttaaaggcaaCactgataatgaacgcttcca	15	13	5	8	1	0	2	0	2	0	0	1	2	1	2	1	1	3	2	1	1	7	7			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr14:80158520C>A	ENST00000428277.2	+	4	992	c.606C>A	c.(604-606)aaC>aaA	p.N202K	NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000281127.7_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000557594.1_Intron|NRXN3_ENST00000556003.1_Intron	NM_001105250.1	NP_001098720.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	200	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)		TTAAAGGCAACACTGATAATG	0.328													3	19					0.004672	0.00477818	1	0	A	80158520	C	A	80158520	3	1	163	1	0	0	0	0	1	0	0	0	10738	477	17	4	2803	4	NRXN3	14	80158520	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	5080349	80158520	27191020	79	29451											
KCNK13	56659	broad.mit.edu	37	chr14	90651171	90651171	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggagatgatctccatgaagGacttgctggcagccaacaag	12	7	13	9	0	1	3	0	2	1	1	2	5	1	4	2	3	3	2	2	3	3	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr14:90651171G>C	ENST00000282146.4	+	2	1492	c.1051G>C	c.(1051-1053)Gac>Cac	p.D351H		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	351						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTCCATGAAGGACTTGCTGGC	0.627													10	36					0	0	0	0	C	90651171	G	C	90651171	3	2	163	1	0	0	0	0	1	0	0	0	8114	1174	41	2	1057	2	KCNK13	14	90651171	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	10492651	90651171	16698369	80	29452											
ASB2	51676	broad.mit.edu	37	chr14	94417390	94417390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaactgtccactctgggCggccacgaacaagggggtga	9	6	13	13	2	1	1	0	1	1	0	3	2	3	1	3	4	2	0	3	4	3	0	rs142812400		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr14:94417390C>T	ENST00000555019.1	-	6	1265	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	ASB2_ENST00000315988.4_Missense_Mutation_p.A231T|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	231					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCACTCTGGGCGGCCACGAAC	0.587													20	105					0	0	0	0	T	94417390	C	T	94417390	3	4	163	1	0	0	0	0	1	0	0	0	1027	768	27	1	1092	1	ASB2	14	94417390	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	3766219	94417390	12932150	81	29453											
GPR132	29933	broad.mit.edu	37	chr14	105518104	105518106	+	In_Frame_Del	DEL	AGA	AGA	-																															gatgctgacgtagatgttgcAgaagaagatgtaggcggtca																										TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr14:105518104_105518106delAGA	ENST00000329797.3	-	4	1279_1281	c.368_370delTCT	c.(367-372)tgc>t	p.FC123del	GPR132_ENST00000539291.2_In_Frame_Del_p.FC123del|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_In_Frame_Del_p.FC114del	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	123					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TAGATGTTGCAGAAGAAGATGTA	0.631													9	159	---	---	---	---					-	105518106	AGA	-	105518104	7	5	163	1	0	1	0	1	0	0	0	0	6691	188	7	0	776	0	GPR132	14	105518104	In_Frame_Del	DEL	AGA	TCGA-CQ-A4C9-01A-11D-A25D-08	11100714	105518104	1831436	82	29454											
CKMT1B	1159	broad.mit.edu	37	chr15	43891412	43891412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgattgattgtgaacggCgtctggagagaggccaggat	10	11	15	5	2	1	4	0	3	1	1	1	7	1	6	1	4	1	0	1	4	1	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr15:43891412C>T	ENST00000300283.6	+	10	1587	c.1195C>T	c.(1195-1197)Cgt>Tgt	p.R399C	CKMT1B_ENST00000441322.1_Missense_Mutation_p.R399C	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	399	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TTGTGAACGGCGTCTGGAGAG	0.498													10	119					0	0	0	0	T	43891412	C	T	43891412	3	4	163	1	0	0	0	0	1	0	0	0	3480	768	27	1	1229	1	CKMT1B	15	43891412	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08		43891412	58639980	83	29455											
LMAN1L	79748	broad.mit.edu	37	chr15	75113085	75113085	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggatgtaactccaaaatCagactctgaagctcaaggag	15	7	11	8	0	3	2	2	1	1	1	4	5	4	5	1	3	2	2	1	3	5	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr15:75113085C>G	ENST00000309664.5	+	8	1023	c.884C>G	c.(883-885)tCa>tGa	p.S295*	LMAN1L_ENST00000379709.3_Nonsense_Mutation_p.S283*	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	295						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTCCAAAATCAGACTCTGAA	0.612													7	54					0	0	0	0	G	75113085	C	G	75113085	4	3	163	1	0	0	0	0	0	1	0	0	8892	838	29	2	914	2	LMAN1L	15	75113085	Nonsense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	31221673	75113085	27418307	84	29456											
FAM86A	196483	broad.mit.edu	37	chr16	5145467	5145467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttaccttgtgcaaaatatCccgcagcagctcagaatctg	11	11	7	12	1	3	1	1	0	2	1	4	1	4	1	2	0	4	4	2	0	5	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr16:5145467C>T	ENST00000427587.4	-	2	213	c.145G>A	c.(145-147)Gat>Aat	p.D49N	FAM86A_ENST00000458008.4_Missense_Mutation_p.D49N|FAM86A_ENST00000587133.1_Missense_Mutation_p.D49N	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	49										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TGCAAAATATCCCGCAGCAGC	0.488													7	60					0	0	0	0	T	5145467	C	T	5145467	3	4	163	1	0	0	0	0	1	0	0	0	5689	855	30	2	875	2	FAM86A	16	5145467	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08		5145467	85209286	85	29457											
TMC5	79838	broad.mit.edu	37	chr16	19460863	19460863	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttcctcttccctccaGtgaaccctgcttatgtaggt	5	15	6	15	0	2	1	0	1	2	0	6	1	5	1	5	1	2	2	5	1	3	4			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr16:19460863G>A	ENST00000396229.2	+	5	1707		c.e5-1		TMC5_ENST00000542583.2_Splice_Site|TMC5_ENST00000541464.1_Splice_Site|TMC5_ENST00000381414.4_Splice_Site	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5							integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTTCCCTCCAGTGAACCCTGC	0.458													35	70					0	0	0	0	A	19460863	G	A	19460863	5	1	163	1	0	0	0	0	0	0	1	0	16082	1043	36	4	968	4	TMC5	16	19460863	Splice_Site	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	14315396	19460863	70893890	86	29458											
SETD1A	9739	broad.mit.edu	37	chr16	30975976	30975976	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccggcggtcagagaacagcTaccaagatgccttttcccgc	9	7	10	15	3	1	2	1	0	0	2	2	3	2	2	4	2	4	1	4	2	3	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr16:30975976T>A	ENST00000262519.8	+	7	1599	c.913T>A	c.(913-915)Tac>Aac	p.Y305N		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	305	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGAGAACAGCTACCAAGATGC	0.597													13	77					0	0	0	0	A	30975976	T	A	30975976	3	1	163	1	0	0	0	0	1	0	0	0	14217	1522	53	5	935	5	SETD1A	16	30975976	Missense_Mutation	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08	11515113	30975976	59378777	87	29459											
COTL1	23406	broad.mit.edu	37	chr16	84623742	84623742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaccagggtcttgtccGtcccggttttggcgcgctgc	2	12	12	15	4	2	0	1	0	1	0	4	0	4	0	4	3	1	2	4	3	0	4			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr16:84623742G>A	ENST00000262428.4	-	3	449	c.287C>T	c.(286-288)aCg>aTg	p.T96M	COTL1_ENST00000564057.1_Missense_Mutation_p.T27M	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	96	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGTCTTGTCCGTCCCGGTTTT	0.602													11	31					0	0	0	0	A	84623742	G	A	84623742	3	1	163	1	0	0	0	0	1	0	0	0	3791	1145	40	1	149	1	COTL1	16	84623742	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	53647766	84623742	5731011	88	29460											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:7578394T>A	ENST00000420246.2	-	5	668	c.536A>T	c.(535-537)cAt>cTt	p.H179L	TP53_ENST00000359597.4_Missense_Mutation_p.H179L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179L|TP53_ENST00000445888.2_Missense_Mutation_p.H179L|TP53_ENST00000413465.2_Missense_Mutation_p.H179L|TP53_ENST00000455263.2_Missense_Mutation_p.H179L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	25					0	0	0	0	A	7578394	T	A	7578394	3	1	163	1	0	0	0	0	1	0	0	0	16476	1464	51	5	762	5	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08		7578394	73616816	89	29461											
KCNH4	23415	broad.mit.edu	37	chr17	40330439	40330439	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaaagaggaacagcacgaCctcccccatctcattcttga	13	7	8	13	1	2	2	1	1	2	1	4	5	3	4	3	2	2	1	3	2	3	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:40330439C>G	ENST00000264661.3	-	3	699	c.367G>C	c.(367-369)Gtc>Ctc	p.V123L	KCNH4_ENST00000607371.1_Missense_Mutation_p.V123L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	123	PAC.				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AACAGCACGACCTCCCCCATC	0.572													6	32					0	0	0	0	G	40330439	C	G	40330439	3	3	163	1	0	0	0	0	1	0	0	0	8087	507	18	4	2742	4	KCNH4	17	40330439	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	32752045	40330439	40864771	90	29462											
MPP2	4355	broad.mit.edu	37	chr17	41958921	41958921	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggatgaggctgtctcGggccgggtcatagtcaaagt	8	8	17	8	2	3	1	2	1	1	0	4	2	3	2	1	5	0	2	1	5	2	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:41958921G>A	ENST00000269095.4	-	7	1022	c.718C>T	c.(718-720)Cga>Tga	p.R240*	MPP2_ENST00000523501.1_Nonsense_Mutation_p.R229*|MPP2_ENST00000520305.1_Nonsense_Mutation_p.R101*|MPP2_ENST00000518766.1_Nonsense_Mutation_p.R285*|MPP2_ENST00000461854.1_Nonsense_Mutation_p.R264*|MPP2_ENST00000377184.3_Nonsense_Mutation_p.R257*|MPP2_ENST00000536246.1_Nonsense_Mutation_p.R229*	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	264	PDZ.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGCTGTCTCGGGCCGGGTCA	0.582													5	41					0	0	0	0	A	41958921	G	A	41958921	4	1	163	1	0	0	0	0	0	1	0	0	9804	1124	39	1	968	1	MPP2	17	41958921	Nonsense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	1628482	41958921	39236289	91	29463											
NXPH3	11248	broad.mit.edu	37	chr17	47656174	47656174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accgcccgaaccacagccccCcaccctcagccaaggtgaag	11	2	8	20	2	1	1	1	1	0	0	1	2	1	1	8	1	3	0	8	1	3	0			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:47656174C>T	ENST00000328741.5	+	2	633	c.271C>T	c.(271-273)Cca>Tca	p.P91S	NXPH3_ENST00000513748.1_Missense_Mutation_p.P91S	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	91	III.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CCACAGCCCCCCACCCTCAGC	0.627													9	35					0	0	0	0	T	47656174	C	T	47656174	3	4	163	1	0	0	0	0	1	0	0	0	10863	623	22	4	277	4	NXPH3	17	47656174	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	5697253	47656174	33539036	92	29464											
HEATR6	63897	broad.mit.edu	37	chr17	58123500	58123500	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagggcctggatagactcctCaatgatttctgcaaatgtgg	10	12	11	8	0	2	2	1	1	1	1	3	3	3	3	2	3	1	1	2	3	4	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:58123500C>G	ENST00000184956.6	-	19	2876	c.2860G>C	c.(2860-2862)Gag>Cag	p.E954Q	HEATR6_ENST00000585976.1_Missense_Mutation_p.E842Q	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	954							binding	p.E954Q(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ATAGACTCCTCAATGATTTCT	0.393													7	82					0	0	0	0	G	58123500	C	G	58123500	3	3	163	1	0	0	0	0	1	0	0	0	7083	835	29	2	693	2	HEATR6	17	58123500	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	10467326	58123500	23071710	93	29465											
WIPI1	55062	broad.mit.edu	37	chr17	66423284	66423284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccacccacctggcaccGtggaggctgaagatgcactt	8	8	12	13	1	0	2	0	1	0	1	1	3	1	3	4	3	1	3	4	3	1	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:66423284G>A	ENST00000262139.5	-	11	1183	c.1184C>T	c.(1183-1185)aCg>aTg	p.T395M	WIPI1_ENST00000546360.1_Missense_Mutation_p.T313M|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	395					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						ACCTGGCACCGTGGAGGCTGA	0.567													5	63					0	0	0	0	A	66423284	G	A	66423284	3	1	163	1	0	0	0	0	1	0	0	0	17466	1145	40	1	168	1	WIPI1	17	66423284	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	8299784	66423284	14771926	94	29466											
KIAA0195	9772	broad.mit.edu	37	chr17	73489130	73489130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctcctgtgtcaccaagcGgcggcctcccctcagccaca	6	7	9	19	2	3	0	2	0	1	0	5	0	4	0	6	2	2	1	6	2	1	0	rs142640709		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:73489130G>T	ENST00000314256.7	+	16	2427	c.2033G>T	c.(2032-2034)cGg>cTg	p.R678L	KIAA0195_ENST00000579208.1_Missense_Mutation_p.R329L|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R688L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	678					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTCACCAAGCGGCGGCCTCCC	0.602													8	40					5.18039e-06	5.50672e-06	1	0	T	73489130	G	T	73489130	3	4	163	1	0	0	0	0	1	0	0	0	8211	1116	39	3	2091	3	KIAA0195	17	73489130	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	7065846	73489130	7706080	95	29467											
C17orf70	80233	broad.mit.edu	37	chr17	79514274	79514274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgagggggcaagggcccCgcccaccacctccctgagac	7	4	13	17	1	1	2	0	2	1	1	2	3	2	2	6	3	0	1	6	3	1	0	rs35394179		TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr17:79514274C>T	ENST00000537152.1	-	5	1906	c.1381G>A	c.(1381-1383)Ggg>Agg	p.G461R	C17orf70_ENST00000327787.8_Missense_Mutation_p.G612R|C17orf70_ENST00000425898.2_Missense_Mutation_p.G261R	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	612					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCAAGGGCCCCGCCCACCACC	0.672													7	65					0	0	0	0	T	79514274	C	T	79514274	3	4	163	1	0	0	0	0	1	0	0	0	1892	652	23	1	831	1	C17orf70	17	79514274	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	6025144	79514274	1680936	96	29468											
RBBP8	5932	broad.mit.edu	37	chr18	20516826	20516826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaagcaagatgaacatctcGggaagcagctgtggaagccc	13	7	12	9	1	1	2	0	1	1	1	2	4	1	4	1	2	5	3	1	2	5	1	rs141481899	byFrequency	TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr18:20516826G>A	ENST00000399722.2	+	2	363	c.12G>A	c.(10-12)tcG>tcA	p.S4S	RBBP8_ENST00000399725.2_Silent_p.S4S|RBBP8_ENST00000327155.5_Silent_p.S4S|RBBP8_ENST00000360790.5_Silent_p.S4S	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	4				S -> L (in Ref. 1; AAC14371).	cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TGAACATCTCGGGAAGCAGCT	0.388								Homologous recombination					22	66					0	0	0	0	A	20516826	G	A	20516826	2	1	163	1	0	0	0	0	0	0	0	1	13187	1103	39	1		1	RBBP8	18	20516826	Silent	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08		20516826	57560422	97	29469											
NOL4	8715	broad.mit.edu	37	chr18	31599400	31599400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtattccgaagttagctgcGcagagaggggactgtcactc	9	10	13	9	2	1	1	1	0	0	1	3	4	2	2	1	2	2	4	1	2	3	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr18:31599400G>A	ENST00000261592.5	-	6	1235	c.938C>T	c.(937-939)gCg>gTg	p.A313V	NOL4_ENST00000589544.1_Missense_Mutation_p.A313V|NOL4_ENST00000538587.1_Missense_Mutation_p.A239V|NOL4_ENST00000269185.4_Missense_Mutation_p.A199V|NOL4_ENST00000535475.1_Missense_Mutation_p.A158V|NOL4_ENST00000535384.1_Missense_Mutation_p.A28V	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	313						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGTTAGCTGCGCAGAGAGGGG	0.473													25	42					0	0	0	0	A	31599400	G	A	31599400	3	1	163	1	0	0	0	0	1	0	0	0	10594	1087	38	1	1002	1	NOL4	18	31599400	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	11082574	31599400	46477848	98	29470											
TCEB3B	51224	broad.mit.edu	37	chr18	44561319	44561319	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccccaggccttttccTggtcctgaagagcctccccg	6	8	11	16	1	0	2	0	1	0	1	3	3	3	3	8	3	2	0	8	3	2	2	rs146911955	byFrequency	TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr18:44561319T>A	ENST00000332567.4	-	1	669	c.317A>T	c.(316-318)cAg>cTg	p.Q106L	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	106					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.Q106R(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCCTTTTCCTGGTCCTGAAG	0.652													20	47					0	0	0	0	A	44561319	T	A	44561319	3	1	163	1	0	0	0	0	1	0	0	0	15776	1580	55	5	1948	5	TCEB3B	18	44561319	Missense_Mutation	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08	12961919	44561319	33515929	99	29471											
VAV1	7409	broad.mit.edu	37	chr19	6850734	6850734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagcagaaggactgtaccGgatcacagagaaaaaggctt	16	5	12	8	1	1	2	1	0	0	2	1	6	1	4	1	3	2	3	1	3	4	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr19:6850734G>A	ENST00000304076.2	+	23	2211	c.2117G>A	c.(2116-2118)cGg>cAg	p.R706Q	VAV1_ENST00000602142.1_Missense_Mutation_p.R728Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R631Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R673Q|VAV1_ENST00000596764.1_Missense_Mutation_p.R696Q	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	728	SH2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGACTGTACCGGATCACAGAG	0.552													4	28					0	0	0	0	A	6850734	G	A	6850734	3	1	163	1	0	0	0	0	1	0	0	0	17227	1116	39	1	2277	1	VAV1	19	6850734	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08		6850734	52278249	100	29472											
ZNF626	199777	broad.mit.edu	37	chr19	20807419	20807419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcacatttgtagggtctctCtccagtatgaattttcttat	8	19	6	8	0	4	1	1	1	3	0	6	1	4	1	1	1	0	2	1	1	4	7			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr19:20807419C>G	ENST00000601440.1	-	4	1410	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TAGGGTCTCTCTCCAGTATGA	0.378													5	26					0	0	0	0	G	20807419	C	G	20807419	3	3	163	1	0	0	0	0	1	0	0	0	18145	922	32	2	326	2	ZNF626	19	20807419	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	13956685	20807419	38321564	101	29473											
ZNF536	9745	broad.mit.edu	37	chr19	30935708	30935708	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaccccgaggtgcctgtGcccatgggcggcatgtccca	6	6	14	15	3	0	0	0	0	0	0	1	2	1	0	5	3	3	1	5	3	0	0			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr19:30935708G>A	ENST00000355537.3	+	2	1386	c.1239G>A	c.(1237-1239)gtG>gtA	p.V413V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGTGCCTGTGCCCATGGGCG	0.622													7	37					0	0	0	0	A	30935708	G	A	30935708	2	1	163	1	0	0	0	0	0	0	0	1	18069	1306	46	4		4	ZNF536	19	30935708	Silent	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	10128289	30935708	28193275	102	29474											
ATP4A	495	broad.mit.edu	37	chr19	36041995	36041995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagacctggaacacgatggcGatcaccaggatcttattcct	11	9	9	12	2	2	1	1	0	1	1	3	5	3	3	3	3	1	0	3	3	2	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr19:36041995G>A	ENST00000262623.3	-	20	2932	c.2904C>T	c.(2902-2904)atC>atT	p.I968I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	968					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	ACACGATGGCGATCACCAGGA	0.552													9	7					0	0	0	0	A	36041995	G	A	36041995	2	1	163	1	0	0	0	0	0	0	0	1	1149	1048	37	1		1	ATP4A	19	36041995	Silent	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	5106287	36041995	23086988	103	29475											
ZNF780A	284323	broad.mit.edu	37	chr19	40580445	40580445	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgccttctcacctgtgTgaatgttcttatggcgatta	9	15	9	8	1	2	2	1	1	2	1	3	3	2	2	2	1	1	1	2	1	4	4			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr19:40580445T>A	ENST00000450241.2	-	6	2113	c.1802A>T	c.(1801-1803)cAc>cTc	p.H601L	ZNF780A_ENST00000595687.2_Missense_Mutation_p.H635L|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.H635L|ZNF780A_ENST00000455521.1_Missense_Mutation_p.H636L|ZNF780A_ENST00000594395.1_Missense_Mutation_p.H636L|ZNF780A_ENST00000414720.2_Intron			O75290	Z780A_HUMAN	zinc finger protein 780A	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCACCTGTGTGAATGTTCTT	0.413													13	64					0	0	0	0	A	40580445	T	A	40580445	3	1	163	1	0	0	0	0	1	0	0	0	18245	1696	59	5	152	5	ZNF780A	19	40580445	Missense_Mutation	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08	4538450	40580445	18548538	104	29476											
VSTM1	284415	broad.mit.edu	37	chr19	54545598	54545598	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatggagatgcagctgaaGatggcgacaaagatggttct	13	8	15	5	1	1	4	0	1	1	3	1	7	1	5	0	4	2	3	0	4	2	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr19:54545598G>C	ENST00000338372.2	-	5	595	c.420C>G	c.(418-420)atC>atG	p.I140M	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Missense_Mutation_p.I52M	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	140						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TGCAGCTGAAGATGGCGACAA	0.542													3	23					0	0	0	0	C	54545598	G	C	54545598	3	2	163	1	0	0	0	0	1	0	0	0	17324	932	33	2	310	2	VSTM1	19	54545598	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	13965153	54545598	4583385	105	29477											
MAVS	57506	broad.mit.edu	37	chr20	3845297	3845297	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagtgccttctaatgcGctcaccaatccagcaccatc	9	9	8	15	1	2	0	1	0	1	0	4	0	3	0	4	1	4	3	4	1	2	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr20:3845297G>A	ENST00000428216.2	+	6	1148	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.A199A	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	340					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CTTCTAATGCGCTCACCAATC	0.562													7	87					0	0	0	0	A	3845297	G	A	3845297	2	1	163	1	0	0	0	0	0	0	0	1	9407	1074	38	1		1	MAVS	20	3845297	Silent	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08		3845297	59180223	106	29478											
PLCB1	23236	broad.mit.edu	37	chr20	8722154	8722154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatccgatatgtgaacctGatggaacagagagctaagca	15	7	10	9	1	0	3	0	2	0	1	1	6	1	4	3	1	4	2	3	1	5	2			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr20:8722154G>A	ENST00000378641.3	+	23	2932	c.2457G>A	c.(2455-2457)ctG>ctA	p.L819L	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.L819L|PLCB1_ENST00000338037.6_Silent_p.L819L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	819					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATGTGAACCTGATGGAACAGA	0.368													3	36					0	0	0	0	A	8722154	G	A	8722154	2	1	163	1	0	0	0	0	0	0	0	1	12099	1277	45	2		2	PLCB1	20	8722154	Silent	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	4876857	8722154	54303366	107	29479											
TRPC4AP	26133	broad.mit.edu	37	chr20	33596524	33596524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagcagacgagttaataagCccctcttcccatcacacacc	12	7	6	16	1	2	1	1	0	1	1	3	2	3	1	4	0	2	3	4	0	2	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr20:33596524C>A	ENST00000252015.2	-	13	1627	c.1538G>T	c.(1537-1539)gGc>gTc	p.G513V	TRPC4AP_ENST00000539834.1_Missense_Mutation_p.G115V|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.G474V|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.G505V			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	513					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGTTAATAAGCCCCTCTTCCC	0.537													6	66					0.00116845	0.00121339	1	0	A	33596524	C	A	33596524	3	1	163	1	0	0	0	0	1	0	0	0	16676	739	26	4	883	4	TRPC4AP	20	33596524	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08	24874370	33596524	29428996	108	29480											
IFNAR1	3454	broad.mit.edu	37	chr21	34727622	34727622	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccctttttttaaattagTatttctctgaacagccattg	9	20	4	8	0	1	1	0	1	1	0	3	1	2	1	2	0	2	1	2	0	5	9			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr21:34727622T>C	ENST00000270139.3	+	11	1593	c.1440_splice	c.e11-1	p.Y481_splice	IFNAR1_ENST00000416947.2_Splice_Site_p.Y412_splice|IFNAR1_ENST00000442357.2_Splice_Site_p.Y420_splice	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	481					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTTAAATTAGTATTTCTCTGA	0.274													7	23					0	0	0	0	C	34727622	T	C	34727622	5	2	163	1	0	0	0	0	0	0	1	0	7597	1652	57	5	1483	5	IFNAR1	21	34727622	Splice_Site	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08		34727622	13402273	109	29481											
MYO18B	84700	broad.mit.edu	37	chr22	26423388	26423388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacggaagaggctaaccgttCctttctctcggggatcaaga	11	9	11	10	3	2	2	1	0	1	2	5	4	3	4	2	4	2	2	2	4	4	3			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chr22:26423388C>A	ENST00000335473.7	+	43	7698	c.7448C>A	c.(7447-7449)tCc>tAc	p.S2483Y	MYO18B_ENST00000407587.2_Missense_Mutation_p.S2484Y|MYO18B_ENST00000536101.1_Missense_Mutation_p.S2483Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2483						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTAACCGTTCCTTTCTCTCG	0.562													5	38					1	1	1	0	A	26423388	C	A	26423388	3	1	163	1	0	0	0	0	1	0	0	0	10136	855	30	2	7614	2	MYO18B	22	26423388	Missense_Mutation	SNP	C	TCGA-CQ-A4C9-01A-11D-A25D-08		26423388	24881178	110	29482											
RBBP7	5931	broad.mit.edu	37	chrX	16871871	16871871	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggtgccaggccacaTcctctacaacagctgagtgg	10	6	12	13	0	1	1	0	1	1	0	2	1	2	1	3	3	5	3	3	3	2	1			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chrX:16871871T>A	ENST00000380087.2	-	6	1052	c.692A>T	c.(691-693)gAt>gTt	p.D231V	RBBP7_ENST00000380084.4_Missense_Mutation_p.D275V|RBBP7_ENST00000404022.1_Missense_Mutation_p.D222V			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	231					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CCAGGCCACATCCTCTACAAC	0.433													8	33					0	0	0	0	A	16871871	T	A	16871871	3	1	163	1	0	0	0	0	1	0	0	0	13186	1435	50	5	613	5	RBBP7	23	16871871	Missense_Mutation	SNP	T	TCGA-CQ-A4C9-01A-11D-A25D-08		16871871	138398689	111	29483											
BEND2	139105	broad.mit.edu	37	chrX	18192182	18192182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttcctctggattatcaGtggaaggttctcgcattcct	7	14	10	10	1	3	0	1	0	2	0	6	2	5	2	2	4	0	3	2	4	2	4			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chrX:18192182G>T	ENST00000380033.4	-	12	2081	c.1949C>A	c.(1948-1950)aCt>aAt	p.T650N	BEND2_ENST00000380030.3_Missense_Mutation_p.T559N	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	650										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TGGATTATCAGTGGAAGGTTC	0.378													4	26					0.184627	0.186005	1	0	T	18192182	G	T	18192182	3	4	163	1	0	0	0	0	1	0	0	0	1402	1029	36	4	488	4	BEND2	23	18192182	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	1320311	18192182	137078378	112	29484											
DOCK11	139818	broad.mit.edu	37	chrX	117700104	117700104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattcagatcaacaccgacaGtttagttcaagaaaaaaagg	18	9	7	7	1	3	2	3	0	0	2	3	3	3	2	1	1	1	2	1	1	7	5			TCGA-CQ-A4C9-01A-11D-A25D-08	TCGA-CQ-A4C9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50ae1afb-03a8-4470-8e00-5037f448bd98	fd1b9890-2f7d-455d-90f6-aa3ad1073601	g.chrX:117700104G>A	ENST00000276204.6	+	8	904	c.830G>A	c.(829-831)aGt>aAt	p.S277N	DOCK11_ENST00000276202.7_Missense_Mutation_p.S277N			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	277					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AACACCGACAGTTTAGTTCAA	0.348													14	43					0	0	0	0	A	117700104	G	A	117700104	3	1	163	1	0	0	0	0	1	0	0	0	4722	1029	36	4	860	4	DOCK11	23	117700104	Missense_Mutation	SNP	G	TCGA-CQ-A4C9-01A-11D-A25D-08	99507922	117700104	37570456	113	29485											
IL22RA1	58985	broad.mit.edu	37	chr1	24463651	24463651	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgaacctgtcagtcaTcttggtggctgaccggcctc	7	10	12	12	1	3	3	2	2	1	1	4	3	3	3	3	3	2	2	3	3	1	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:24463651T>A	ENST00000270800.1	-	3	363	c.325A>T	c.(325-327)Atg>Ttg	p.M109L		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	109	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CTGTCAGTCATCTTGGTGGCT	0.622													6	35					0	0	0	0	A	24463651	T	A	24463651	3	1	164	1	0	0	0	0	1	0	0	0	7726	1435	50	5	1419	5	IL22RA1	1	24463651	Missense_Mutation	SNP	T	TCGA-CQ-A4CB-01A-11D-A25D-08		24463651	224786970	1	29486											
ARID1A	8289	broad.mit.edu	37	chr1	27106260	27106260	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcaagatcctagaggaCgaaccccacagtaaggatga	17	5	9	10	1	1	3	1	1	0	2	2	6	2	5	3	2	2	1	3	2	5	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:27106260C>T	ENST00000324856.7	+	20	6242	c.5871C>T	c.(5869-5871)gaC>gaT	p.D1957D	ARID1A_ENST00000374152.2_Silent_p.D1574D|ARID1A_ENST00000457599.2_Silent_p.D1740D|ARID1A_ENST00000540690.1_Silent_p.D285D	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1957					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCTAGAGGACGAACCCCACA	0.532			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								17	90					0	0	0	0	T	27106260	C	T	27106260	2	4	164	1	0	0	0	0	0	0	0	1	915	535	19	1		1	ARID1A	1	27106260	Silent	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	2642609	27106260	222144361	2	29487											
TMEM222	84065	broad.mit.edu	37	chr1	27657240	27657240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccatcatcggccacatggGcatctgcacatccacaggag	10	6	9	16	1	2	0	1	0	1	0	4	1	3	1	4	3	1	2	4	3	0	0			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:27657240G>A	ENST00000374076.4	+	2	262	c.224G>A	c.(223-225)gGc>gAc	p.G75D		NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	75						integral to membrane	protein binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GGCCACATGGGCATCTGCACA	0.577													25	106					0	0	0	0	A	27657240	G	A	27657240	3	1	164	1	0	0	0	0	1	0	0	0	16239	1203	42	4	230	4	TMEM222	1	27657240	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	550980	27657240	221593381	3	29488											
FAM183A	440585	broad.mit.edu	37	chr1	43621899	43621899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacccagaacgccatgaccGcaggctgaatcacttcaggg	12	5	10	14	2	2	3	2	2	0	1	2	3	2	3	3	2	2	2	3	2	3	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:43621899G>A	ENST00000410048.1	+	4	332	c.236G>A	c.(235-237)cGc>cAc	p.R79H	FAM183A_ENST00000409337.1_3'UTR|FAM183A_ENST00000335282.4_Missense_Mutation_p.R107H			A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	107										kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						CGCCATGACCGCAGGCTGAAT	0.527													4	104					0	0	0	0	A	43621899	G	A	43621899	3	1	164	1	0	0	0	0	1	0	0	0	5552	1087	38	1	334	1	FAM183A	1	43621899	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	15964659	43621899	205628722	4	29489											
NPR1	4881	broad.mit.edu	37	chr1	153651952	153651952	+	Frame_Shift_Del	DEL	C	C	-																															cggctgcgtgtacgccgccgCcccagtggggcgcttcaccg																										TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:153651952delC	ENST00000368680.3	+	1	840	c.368delC	c.(367-369)gcfs	p.A123fs		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	123					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TACGCCGCCGCCCCAGTGGGG	0.741													2	4	---	---	---	---					-	153651952	C	-	153651952	7	5	164	1	0	1	0	1	0	0	0	0	10665	739	26	0	370	0	NPR1	1	153651952	Frame_Shift_Del	DEL	C	TCGA-CQ-A4CB-01A-11D-A25D-08	110030053	153651952	95598669	5	29490											
TADA1	117143	broad.mit.edu	37	chr1	166833074	166833074	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctacatcaaatttctgaCgaacagaagaaagctttttc	16	11	5	9	1	2	3	1	1	1	2	3	4	2	3	1	0	4	1	1	0	6	4			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:166833074C>G	ENST00000367874.4	-	4	410	c.317G>C	c.(316-318)cGt>cCt	p.R106P		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	106					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						AAATTTCTGACGAACAGAAGA	0.393													8	41					0	0	0	0	G	166833074	C	G	166833074	3	3	164	1	0	0	0	0	1	0	0	0	15600	536	19	3	710	3	TADA1	1	166833074	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	13181122	166833074	82417547	6	29491											
ASTN1	460	broad.mit.edu	37	chr1	177001737	177001737	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtcatactcatagccGtccaggataggtgtctcccg	8	11	11	11	2	3	1	2	1	1	0	5	2	4	2	3	2	2	0	3	2	3	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:177001737G>A	ENST00000367654.2	-	3	733	c.720C>T	c.(718-720)gaC>gaT	p.D240D	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.D240D|ASTN1_ENST00000424564.2_Silent_p.D240D|ASTN1_ENST00000367657.3_Silent_p.D240D			O14525	ASTN1_HUMAN	astrotactin 1	240					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						ACTCATAGCCGTCCAGGATAG	0.632													16	54					0	0	0	0	A	177001737	G	A	177001737	2	1	164	1	0	0	0	0	0	0	0	1	1068	1136	40	1		1	ASTN1	1	177001737	Silent	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	10168663	177001737	72248884	7	29492											
PLEKHA6	22874	broad.mit.edu	37	chr1	204198208	204198208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggttggagatgtctacctCatggatgctgcggtggcggc	6	10	16	9	2	2	1	1	0	1	1	2	3	2	2	1	6	3	2	1	6	1	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:204198208C>T	ENST00000272203.3	-	19	2924	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E890K	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	870										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			ATGTCTACCTCATGGATGCTG	0.632													8	37					0	0	0	0	T	204198208	C	T	204198208	3	4	164	1	0	0	0	0	1	0	0	0	12132	835	29	2	554	2	PLEKHA6	1	204198208	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	27196471	204198208	45052413	8	29493											
USH2A	7399	broad.mit.edu	37	chr1	216061956	216061956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaataaacctcatggaatGactcctcgggagagtcacca	13	8	9	11	1	3	2	3	1	0	1	5	4	4	3	3	2	1	0	3	2	4	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:216061956G>T	ENST00000366943.2	-	41	8421	c.8035C>A	c.(8035-8037)Cat>Aat	p.H2679N	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.H2679N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2679	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCATGGAATGACTCCTCGGG	0.468										HNSCC(13;0.011)			9	38					2.74318e-10	3.02519e-10	1	0	T	216061956	G	T	216061956	3	4	164	1	0	0	0	0	1	0	0	0	17132	1290	45	2	7701	2	USH2A	1	216061956	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	11863748	216061956	33188665	9	29494											
USH2A	7399	broad.mit.edu	37	chr1	216498645	216498645	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaccttatcgtttctcattAcctgatactgtccattttcc	8	17	3	13	1	1	1	1	1	1	0	5	1	3	1	4	0	2	1	4	0	3	6			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:216498645A>G	ENST00000366943.2	-	6	1530		c.e6+1		USH2A_ENST00000366942.3_Splice_Site|USH2A_ENST00000307340.3_Splice_Site			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTCTCATTACCTGATACTG	0.343										HNSCC(13;0.011)			12	44					0	0	0	0	G	216498645	A	G	216498645	5	3	164	1	0	0	0	0	0	0	1	0	17132	405	14	5	14745	5	USH2A	1	216498645	Splice_Site	SNP	A	TCGA-CQ-A4CB-01A-11D-A25D-08	436689	216498645	32751976	10	29495											
GALNT2	2590	broad.mit.edu	37	chr1	230391092	230391092	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggcactgtctttgcccggTaagtagtgaaaggctgagcg	8	10	15	8	2	1	2	0	2	1	0	1	2	1	2	1	3	2	4	1	3	3	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:230391092T>C	ENST00000366672.4	+	11	1208		c.e11+2		GALNT2_ENST00000541865.1_Splice_Site|GALNT2_ENST00000543760.1_Splice_Site	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)						immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTTTGCCCGGTAAGTAGTGAA	0.577													4	34					0	0	0	0	C	230391092	T	C	230391092	5	2	164	1	0	0	0	0	0	0	1	0	6262	1652	57	5	1180	5	GALNT2	1	230391092	Splice_Site	SNP	T	TCGA-CQ-A4CB-01A-11D-A25D-08	13892447	230391092	18859529	11	29496											
OR1C1	26188	broad.mit.edu	37	chr1	247921201	247921201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatggatgatattggaggCacagaaggacagctgtgcta	13	9	14	5	0	0	3	0	2	0	1	0	6	0	6	0	4	2	3	0	4	3	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:247921201C>T	ENST00000408896.2	-	1	781	c.508G>A	c.(508-510)Gcc>Acc	p.A170T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATATTGGAGGCACAGAAGGAC	0.483													7	25					0	0	0	0	T	247921201	C	T	247921201	3	4	164	1	0	0	0	0	1	0	0	0	11023	710	25	4	438	4	OR1C1	1	247921201	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	17530109	247921201	1329420	12	29497											
SUPT7L	9913	broad.mit.edu	37	chr2	27883959	27883959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggaggtgacccagggcacGagggaagaggttcactctct	10	6	16	9	1	2	2	1	1	1	1	3	6	2	4	1	5	0	2	1	5	1	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:27883959G>A	ENST00000337768.5	-	3	880	c.311C>T	c.(310-312)tCg>tTg	p.S104L	SUPT7L_ENST00000406540.1_Missense_Mutation_p.S102L|SUPT7L_ENST00000464789.2_Missense_Mutation_p.S102L|SUPT7L_ENST00000405491.1_Missense_Mutation_p.S102L|SUPT7L_ENST00000404798.2_Intron	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	104					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CCCAGGGCACGAGGGAAGAGG	0.532													8	39					0	0	0	0	A	27883959	G	A	27883959	3	1	164	1	0	0	0	0	1	0	0	0	15491	1059	37	1	949	1	SUPT7L	2	27883959	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08		27883959	215315414	13	29498											
SPAST	6683	broad.mit.edu	37	chr2	32379522	32379522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccctcaaactttagaagCgtacatacgttggaacaagg	14	8	9	10	2	1	1	1	0	0	1	1	2	1	2	1	2	6	2	1	2	7	5			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:32379522C>T	ENST00000315285.3	+	17	1933	c.1808C>T	c.(1807-1809)gCg>gTg	p.A603V	SPAST_ENST00000345662.1_Missense_Mutation_p.A571V	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	603	Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACTTTAGAAGCGTACATACGT	0.348													3	49					0	0	0	0	T	32379522	C	T	32379522	3	4	164	1	0	0	0	0	1	0	0	0	15087	768	27	1	1874	1	SPAST	2	32379522	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	4495563	32379522	210819851	14	29499											
GPR39	2863	broad.mit.edu	37	chr2	133402871	133402871	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtcctcgcagcagtttCggcgggtgttcgtgcaggtg	3	11	17	10	5	0	0	0	0	0	0	4	0	1	0	1	4	2	5	1	4	0	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:133402871C>A	ENST00000329321.3	+	2	1523	c.1054C>A	c.(1054-1056)Cgg>Agg	p.R352R	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	352						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAGCAGTTTCGGCGGGTGTT	0.632													16	46					2.35188e-11	2.61813e-11	1	0	A	133402871	C	A	133402871	2	1	164	1	0	0	0	0	0	0	0	1	6742	875	31	3		3	GPR39	2	133402871	Silent	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	101023349	133402871	109796502	15	29500											
SCN1A	6323	broad.mit.edu	37	chr2	166848805	166848805	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggacatcatcaaagcaaaGagcagcgtgcggatcccctt	13	6	11	11	2	2	1	2	0	0	1	3	3	3	3	2	2	4	2	2	2	2	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:166848805G>C	ENST00000423058.2	-	26	4997	c.4980C>G	c.(4978-4980)ctC>ctG	p.L1660L	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L1632L|SCN1A_ENST00000375405.3_Silent_p.L1649L|SCN1A_ENST00000303395.4_Silent_p.L1660L|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1660						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCAAAGCAAAGAGCAGCGTGC	0.502													21	82					0	0	0	0	C	166848805	G	C	166848805	2	2	164	1	0	0	0	0	0	0	0	1	14001	929	33	2		2	SCN1A	2	166848805	Silent	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	33445934	166848805	76350568	16	29501											
MRPL44	65080	broad.mit.edu	37	chr2	224824372	224824372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagctgctatattaaaagtGaggaggccaaacgccaacaa	17	7	9	8	1	0	1	0	1	0	0	0	2	0	2	2	2	4	2	2	2	8	4			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:224824372G>A	ENST00000258383.3	+	2	370	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	101	RNase III.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		TATTAAAAGTGAGGAGGCCAA	0.368													10	54					0	0	0	0	A	224824372	G	A	224824372	3	1	164	1	0	0	0	0	1	0	0	0	9878	1291	45	2	307	2	MRPL44	2	224824372	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	57975567	224824372	18375001	17	29502											
DGKD	8527	broad.mit.edu	37	chr2	234343483	234343483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgttcccacgcgaggccGacctactgcaatgtgtgccg	6	8	12	15	4	0	0	0	0	0	0	1	2	1	0	5	1	3	2	5	1	2	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:234343483G>A	ENST00000264057.2	+	5	534	c.522G>A	c.(520-522)ccG>ccA	p.P174P	DGKD_ENST00000409813.3_Silent_p.P130P	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	174					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACGCGAGGCCGACCTACTGCA	0.562													17	85					0	0	0	0	A	234343483	G	A	234343483	2	1	164	1	0	0	0	0	0	0	0	1	4504	1045	37	1		1	DGKD	2	234343483	Silent	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	9519111	234343483	8855890	18	29503											
HDLBP	3069	broad.mit.edu	37	chr2	242174939	242174939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcatcttgcggatcccacttCctttctgcccaataacgtaa	9	13	5	14	2	3	0	1	0	2	0	5	1	5	1	3	1	3	1	3	1	3	5			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:242174939C>T	ENST00000391975.1	-	22	3202	c.2975G>A	c.(2974-2976)gGa>gAa	p.G992E	HDLBP_ENST00000391976.2_Missense_Mutation_p.G992E|HDLBP_ENST00000427183.2_Missense_Mutation_p.G959E|HDLBP_ENST00000310931.4_Missense_Mutation_p.G992E	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	992	KH 12.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GATCCCACTTCCTTTCTGCCC	0.552													15	61					0	0	0	0	T	242174939	C	T	242174939	3	4	164	1	0	0	0	0	1	0	0	0	7075	855	30	2	859	2	HDLBP	2	242174939	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	7831456	242174939	1024434	19	29504											
STAC	6769	broad.mit.edu	37	chr3	36587780	36587780	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtactagaaaacatctGattgctggctcctcctccgt	9	13	8	11	1	1	3	0	2	1	1	4	3	4	3	3	1	3	3	3	1	4	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:36587780G>T	ENST00000273183.3	+	11	1508	c.1208G>T	c.(1207-1209)tGa>tTa	p.*403L	STAC_ENST00000457375.2_Nonstop_Mutation_p.*342L	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	0					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GAAAACATCTGATTGCTGGCT	0.507													9	38					1.12685e-05	1.19791e-05	1	0	T	36587780	G	T	36587780	4	4	164	1	0	0	0	0	0	0	0	0	15329	1285	45	2	1250	2	STAC	3	36587780	Nonstop_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08		36587780	161434650	20	29505											
SHISA5	51246	broad.mit.edu	37	chr3	48510907	48510907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtccagggtagctgggcgGcacacttggaggctgaggat	7	8	18	8	1	0	1	0	1	0	0	1	3	1	3	1	7	1	4	1	7	1	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:48510907G>A	ENST00000296444.2	-	5	832	c.496C>T	c.(496-498)Ccg>Tcg	p.P166S	SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000426002.1_Missense_Mutation_p.P63S|SHISA5_ENST00000444115.1_Missense_Mutation_p.P135S|SHISA5_ENST00000443308.2_Missense_Mutation_p.P159S|SHISA5_ENST00000442747.1_Missense_Mutation_p.P135S	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	166	Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						TAGCTGGGCGGCACACTTGGA	0.597													3	50					0	0	0	0	A	48510907	G	A	48510907	3	1	164	1	0	0	0	0	1	0	0	0	14371	1203	42	4	234	4	SHISA5	3	48510907	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	11923127	48510907	149511523	21	29506											
KALRN	8997	broad.mit.edu	37	chr3	123946894	123946894	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttcctatcctaaaggaaaAggtggccttcgtgtctggtg	8	12	11	10	1	1	0	0	0	1	0	4	1	3	1	4	4	0	0	4	4	5	4	rs36107295		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:123946894A>C	ENST00000360013.3	+	2	252	c.125A>C	c.(124-126)aAg>aCg	p.K42T	KALRN_ENST00000460856.1_Missense_Mutation_p.K42T|KALRN_ENST00000240874.3_Missense_Mutation_p.K42T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	42	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTAAAGGAAAAGGTGGCCTTC	0.448													25	123					0	0	0	0	C	123946894	A	C	123946894	3	2	164	1	0	0	0	0	1	0	0	0	8028	72	3	5	131	5	KALRN	3	123946894	Missense_Mutation	SNP	A	TCGA-CQ-A4CB-01A-11D-A25D-08	75435987	123946894	74075536	22	29507											
UROC1	131669	broad.mit.edu	37	chr3	126224668	126224668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatgcccaggtaccgacgtGcagcattcaacacggtgagc	10	6	12	13	4	1	1	1	1	0	0	1	3	1	1	2	2	6	3	2	2	2	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:126224668G>A	ENST00000290868.2	-	8	742	c.689C>T	c.(688-690)gCa>gTa	p.A230V	UROC1_ENST00000383579.3_Missense_Mutation_p.A230V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	230					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GTACCGACGTGCAGCATTCAA	0.657													4	31					0	0	0	0	A	126224668	G	A	126224668	3	1	164	1	0	0	0	0	1	0	0	0	17124	1319	46	4	1577	4	UROC1	3	126224668	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	2277774	126224668	71797762	23	29508											
SI	6476	broad.mit.edu	37	chr3	164757710	164757710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtaataagtaatgcagggcCccacaaaaactcagtgtcct	15	8	8	10	0	1	0	1	0	0	0	2	0	2	0	3	1	2	3	3	1	5	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:164757710C>T	ENST00000264382.3	-	19	2271	c.2209G>A	c.(2209-2211)Ggc>Agc	p.G737S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	737	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AATGCAGGGCCCCACAAAAAC	0.333										HNSCC(35;0.089)			10	98					0	0	0	0	T	164757710	C	T	164757710	3	4	164	1	0	0	0	0	1	0	0	0	14385	623	22	4	3394	4	SI	3	164757710	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	38533042	164757710	33264720	24	29509											
UBXN7	26043	broad.mit.edu	37	chr3	196089375	196089375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggcaagattctctacctCttcttcttcatcagagccac	8	14	5	14	0	6	2	2	0	4	2	7	2	6	2	2	1	2	1	2	1	2	6			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:196089375C>T	ENST00000296328.4	-	9	1092	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	UBXN7_ENST00000428095.1_Missense_Mutation_p.E178K|UBXN7_ENST00000535858.1_Missense_Mutation_p.E192K	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	340	Poly-Glu.						protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTCTCTACCTCTTCTTCTTCA	0.458													18	125					0	0	0	0	T	196089375	C	T	196089375	3	4	164	1	0	0	0	0	1	0	0	0	17014	922	32	2	463	2	UBXN7	3	196089375	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	31331665	196089375	1933055	25	29510											
EVC2	132884	broad.mit.edu	37	chr4	5576499	5576499	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgttgttcctctctcaaActggagtgaaaataaaatat	13	15	6	7	0	3	1	1	1	2	0	5	2	4	2	1	1	1	2	1	1	6	5			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr4:5576499A>C	ENST00000310917.2	-	19	3764	c.3032_splice	c.e19-1	p.C1011_splice	EVC2_ENST00000344938.1_Splice_Site_p.C1091_splice|EVC2_ENST00000344408.5_Splice_Site_p.C1091_splice	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1091						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCTCTCTCAAACTGGAGTGAA	0.393													13	47					0	0	0	0	C	5576499	A	C	5576499	5	2	164	1	0	0	0	0	0	0	1	0	5324	57	2	5	669	5	EVC2	4	5576499	Splice_Site	SNP	A	TCGA-CQ-A4CB-01A-11D-A25D-08		5576499	185577777	26	29511											
CRMP1	1400	broad.mit.edu	37	chr4	5838521	5838521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcccagacgaccgtcatccGctcctctatcccgttgacac	7	9	7	18	4	2	2	1	1	1	1	6	3	6	2	5	0	0	2	5	0	1	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr4:5838521G>A	ENST00000324989.7	-	10	1511	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.R359W|CRMP1_ENST00000397890.2_Missense_Mutation_p.R361W	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	361					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		ACCGTCATCCGCTCCTCTATC	0.577													21	60					0	0	0	0	A	5838521	G	A	5838521	3	1	164	1	0	0	0	0	1	0	0	0	3920	1086	38	1	657	1	CRMP1	4	5838521	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	262022	5838521	185315755	27	29512											
RBPJ	3516	broad.mit.edu	37	chr4	26422206	26422206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaaacattgtatatatctGactcagacaagcgaaagcac	17	8	6	10	1	2	2	1	1	1	1	2	3	2	2	1	0	3	2	1	0	7	4			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr4:26422206G>A	ENST00000342320.4	+	5	528	c.352G>A	c.(352-354)Gac>Aac	p.D118N	RBPJ_ENST00000345843.3_Missense_Mutation_p.D117N|RBPJ_ENST00000348160.4_Missense_Mutation_p.D119N|RBPJ_ENST00000507561.1_Missense_Mutation_p.D97N|RBPJ_ENST00000355476.3_Missense_Mutation_p.D118N|RBPJ_ENST00000504907.1_Missense_Mutation_p.D118N|RBPJ_ENST00000361572.6_Missense_Mutation_p.D132N|RBPJ_ENST00000342295.1_Missense_Mutation_p.D132N			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	132					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTATATATCTGACTCAGACAA	0.373													4	32					0	0	0	0	A	26422206	G	A	26422206	3	1	164	1	0	0	0	0	1	0	0	0	13243	1290	45	2	475	2	RBPJ	4	26422206	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	20583685	26422206	164732070	28	29513											
SLC4A4	8671	broad.mit.edu	37	chr4	72316105	72316105	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcttttattattctttaGgtgttccatgacattgctta	9	20	5	7	0	2	1	0	1	2	0	3	1	3	1	1	1	1	2	1	1	4	9			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr4:72316105G>T	ENST00000340595.3	+	7	1117		c.e7-1		SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000512686.1_Splice_Site|SLC4A4_ENST00000514331.1_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTATTCTTTAGGTGTTCCATG	0.408													4	33					0.184627	0.184627	1	0	T	72316105	G	T	72316105	5	4	164	1	0	0	0	0	0	0	1	0	14744	1014	35	4	1208	4	SLC4A4	4	72316105	Splice_Site	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	45893899	72316105	118838171	29	29514											
GYPA	2993	broad.mit.edu	37	chr4	145040931	145040931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catatgtgtcccgtttgtgcGtatctgcatataagagaagt	10	14	10	7	2	1	1	0	0	1	1	2	2	2	1	1	0	2	3	1	0	5	5	rs144802902	byFrequency	TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr4:145040931G>A	ENST00000360771.4	-	3	255	c.140C>T	c.(139-141)aCg>aTg	p.T47M	GYPA_ENST00000504786.1_Intron|GYPA_ENST00000512064.1_Missense_Mutation_p.T47M|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000512789.1_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000535709.1_Missense_Mutation_p.T21M|GYPA_ENST00000324022.10_Missense_Mutation_p.T14M|GYPB_ENST00000283126.7_Intron	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	47			T -> K (in ENEH/Hut antigen).|T -> M (in ENEH/Vw antigen).		interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					CCGTTTGTGCGTATCTGCATA	0.453													4	38					0	0	0	0	A	145040931	G	A	145040931	3	1	164	1	0	0	0	0	1	0	0	0	6958	1145	40	1	332	1	GYPA	4	145040931	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	72724826	145040931	46113345	30	29515											
DNAH5	1767	broad.mit.edu	37	chr5	13792168	13792168	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagacccgagaaagatctcGtaggttaaacacataatgga	16	7	9	9	2	1	3	0	0	1	3	2	5	1	4	2	2	1	2	2	2	5	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr5:13792168G>A	ENST00000265104.4	-	50	8487	c.8383C>T	c.(8383-8385)Cga>Tga	p.R2795*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2795	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAAGATCTCGTAGGTTAAAC	0.418									Kartagener syndrome				4	47					0	0	0	0	A	13792168	G	A	13792168	4	1	164	1	0	0	0	0	0	1	0	0	4641	1153	40	1	5611	1	DNAH5	5	13792168	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08		13792168	167123092	31	29516											
CCDC125	202243	broad.mit.edu	37	chr5	68599697	68599697	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgtcagacttcagcattTtaatttcttctgttttcact	8	20	4	9	0	5	1	3	0	2	1	5	1	5	1	0	0	1	2	0	0	1	8			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr5:68599697T>C	ENST00000396496.2	-	7	784	c.677A>G	c.(676-678)aAa>aGa	p.K226R	CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000396499.1_Missense_Mutation_p.K226R|CCDC125_ENST00000383374.2_Missense_Mutation_p.K225R|CCDC125_ENST00000511257.1_Missense_Mutation_p.K101R			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	226						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CTTCAGCATTTTAATTTCTTC	0.279													6	13					0	0	0	0	C	68599697	T	C	68599697	3	2	164	1	0	0	0	0	1	0	0	0	2786	1841	64	5	882	5	CCDC125	5	68599697	Missense_Mutation	SNP	T	TCGA-CQ-A4CB-01A-11D-A25D-08	54807529	68599697	112315563	32	29517											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744164	140744164	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcttggtcaccgcgggcagGatagaccgggaggagctctg	8	6	17	10	3	2	1	1	0	1	1	2	4	2	4	2	5	2	3	2	5	1	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr5:140744164G>A	ENST00000518069.1	+	1	267	c.267G>A	c.(265-267)agG>agA	p.R89R	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGGGCAGGATAGACCGGG	0.557													15	64					0	0	0	0	A	140744164	G	A	140744164	2	1	164	1	0	0	0	0	0	0	0	1	11628	1165	41	2		2	PCDHGA5	5	140744164	Silent	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	72144467	140744164	40171096	33	29518											
PCYOX1L	78991	broad.mit.edu	37	chr5	148743768	148743768	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggaggtcatggagaagttCatgaggtagggctggcagag	11	7	19	4	0	2	3	2	1	0	2	2	6	2	4	0	6	0	4	0	6	2	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr5:148743768C>T	ENST00000514349.1	+	2	774	c.195C>T	c.(193-195)ttC>ttT	p.F65F	PCYOX1L_ENST00000274569.4_Silent_p.F155F			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	155					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGAAGTTCATGAGGTAGG	0.562													7	24					0	0	0	0	T	148743768	C	T	148743768	2	4	164	1	0	0	0	0	0	0	0	1	11680	825	29	2		2	PCYOX1L	5	148743768	Silent	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	7999604	148743768	32171492	34	29519											
UIMC1	51720	broad.mit.edu	37	chr5	176334156	176334156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttccaagaaactaaggagtCggccttcactgtggcctttt	9	12	10	10	1	1	1	1	0	0	1	3	2	2	2	3	3	1	1	3	3	3	5			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr5:176334156C>T	ENST00000377219.2	-	13	2040	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	UIMC1_ENST00000377227.4_Missense_Mutation_p.R624Q|UIMC1_ENST00000506128.1_Missense_Mutation_p.R458Q|UIMC1_ENST00000511320.1_Missense_Mutation_p.R624Q	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	624					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	p.R624L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTAAGGAGTCGGCCTTCACT	0.468													3	19					0	0	0	0	T	176334156	C	T	176334156	3	4	164	1	0	0	0	0	1	0	0	0	17067	884	31	1	300	1	UIMC1	5	176334156	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	27590388	176334156	4581104	35	29520											
PHACTR1	221692	broad.mit.edu	37	chr6	12750005	12750005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctcgcagaggccaggatctCctttaacctgggggcaggta	8	8	13	12	1	1	1	0	0	1	1	3	2	1	2	4	5	1	3	4	5	2	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:12750005C>G	ENST00000379350.1	+	3	362	c.233C>G	c.(232-234)tCc>tGc	p.S78C	PHACTR1_ENST00000332995.7_Missense_Mutation_p.S78C|PHACTR1_ENST00000379348.2_Missense_Mutation_p.S78C			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	78						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCCAGGATCTCCTTTAACCTG	0.697													4	25					0	0	0	0	G	12750005	C	G	12750005	3	3	164	1	0	0	0	0	1	0	0	0	11881	855	30	2	239	2	PHACTR1	6	12750005	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08		12750005	158365062	36	29521											
ZNF311	282890	broad.mit.edu	37	chr6	28963925	28963925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaaagctgatttctggtcTtgaatgctttcccacactca	10	14	7	10	0	3	3	1	2	2	1	4	3	4	3	1	1	2	2	1	1	3	4			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:28963925T>C	ENST00000377179.3	-	7	1366	c.854A>G	c.(853-855)aAg>aGg	p.K285R	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ATTTCTGGTCTTGAATGCTTT	0.438													8	56					0	0	0	0	C	28963925	T	C	28963925	3	2	164	1	0	0	0	0	1	0	0	0	17929	1609	56	5	1150	5	ZNF311	6	28963925	Missense_Mutation	SNP	T	TCGA-CQ-A4CB-01A-11D-A25D-08	16213920	28963925	142151142	37	29522											
PRPH2	5961	broad.mit.edu	37	chr6	42666177	42666177	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccctggctctcgctctcAgattcctcggggttggacac	5	10	11	15	2	2	1	1	0	2	1	6	2	3	2	2	4	1	3	2	4	0	2	rs61748429		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:42666177A>G	ENST00000230381.5	-	3	1136	c.897T>C	c.(895-897)tcT>tcC	p.S299S		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	299					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TCTCGCTCTCAGATTCCTCGG	0.592													18	48					0	0	0	0	G	42666177	A	G	42666177	2	3	164	1	0	0	0	0	0	0	0	1	12657	175	7	5		5	PRPH2	6	42666177	Silent	SNP	A	TCGA-CQ-A4CB-01A-11D-A25D-08	13702252	42666177	128448890	38	29523											
LCA5	167691	broad.mit.edu	37	chr6	80197214	80197214	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcctgaattctgaccttctCcttttggagttgagaaactg	8	16	8	9	0	2	3	0	3	2	1	4	5	3	4	3	1	1	1	3	1	2	6			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:80197214C>G	ENST00000392959.1	-	9	2212	c.1601G>C	c.(1600-1602)gGa>gCa	p.G534A	LCA5_ENST00000369846.4_Missense_Mutation_p.G534A	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	534					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		CTGACCTTCTCCTTTTGGAGT	0.438													19	84					0	0	0	0	G	80197214	C	G	80197214	3	3	164	1	0	0	0	0	1	0	0	0	8709	855	30	2	496	2	LCA5	6	80197214	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	37531037	80197214	90917853	39	29524											
DOPEY1	23033	broad.mit.edu	37	chr6	83847134	83847134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggggacaacttgagttacGaagttgatcctgaaaccgtg	11	10	12	8	2	0	3	0	3	0	0	1	5	1	4	2	2	3	2	2	2	4	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:83847134G>A	ENST00000349129.2	+	21	3633	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1116K|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1106K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1125					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTTGAGTTACGAAGTTGATCC	0.448													11	40					0	0	0	0	A	83847134	G	A	83847134	3	1	164	1	0	0	0	0	1	0	0	0	4743	1059	37	1	3447	1	DOPEY1	6	83847134	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	3649920	83847134	87267933	40	29525											
SNX14	57231	broad.mit.edu	37	chr6	86246536	86246537	+	Frame_Shift_Ins	INS	-	-	A																															tcttcaccttcagctacaccINSataattaggcaacatagctc																										TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:86246536_86246537insA	ENST00000314673.3	-	17	1757_1758	c.1581_1582insT	c.(1579-1584)tagtgtfs	p.*C527fs	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Frame_Shift_Ins_p.*C475fs|SNX14_ENST00000346348.3_Frame_Shift_Ins_p.*C474fs|SNX14_ENST00000369627.2_Frame_Shift_Ins_p.*C518fs|SNX14_ENST00000513865.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	527					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCAGCTACACCATAATTAGGCA	0.317													10	29	---	---	---	---					A	86246537	-	A	86246536	7	5	164	1	0	1	1	0	0	0	0	0	14973	594	21	0	1310	0	SNX14	6	86246536	Frame_Shift_Ins	INS	-	TCGA-CQ-A4CB-01A-11D-A25D-08	2399402	86246536	84868531	41	29526											
ZAN	7455	broad.mit.edu	37	chr7	100348329	100348329	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgagccggcccttctgcgCcccaggtgacatctgcgtgg	4	8	15	14	3	2	2	0	2	2	0	2	2	2	2	4	4	3	0	4	4	0	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:100348329C>G	ENST00000542585.1	+	0	1479				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCTTCTGCGCCCCAGGTGAC	0.602													5	16					0	0	0	0	G	100348329	C	G	100348329	1	3	164	0	1	0	0	0	0	0	0	0	17609	739	26	4		4	ZAN	7	100348329	RNA	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08		100348329	58790334	42	29527											
MUC17	140453	broad.mit.edu	37	chr7	100684366	100684366	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagtgaaggaatgactccAttaactagtgtacctgtcag	12	11	9	9	0	1	2	1	2	0	0	2	3	2	3	3	1	2	1	3	1	6	4			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:100684366A>G	ENST00000306151.4	+	3	9733	c.9669A>G	c.(9667-9669)ccA>ccG	p.P3223P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3223	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAATGACTCCATTAACTAGTG	0.488													56	281					0	0	0	0	G	100684366	A	G	100684366	2	3	164	1	0	0	0	0	0	0	0	1	10044	204	8	5		5	MUC17	7	100684366	Silent	SNP	A	TCGA-CQ-A4CB-01A-11D-A25D-08	336037	100684366	58454297	43	29528											
DLD	1738	broad.mit.edu	37	chr7	107543983	107543983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagattttgcatctagaGgaattgaaagtaagtatact	17	12	9	3	0	1	3	0	1	1	2	1	5	1	4	0	1	2	3	0	1	8	7			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:107543983G>A	ENST00000205402.5	+	5	609	c.328G>A	c.(328-330)Gga>Aga	p.G110R	DLD_ENST00000494441.1_3'UTR|DLD_ENST00000537148.1_Missense_Mutation_p.G11R|DLD_ENST00000440410.1_Missense_Mutation_p.G87R|DLD_ENST00000437604.2_Missense_Mutation_p.G110R	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	110					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	TGCATCTAGAGGAATTGAAAG	0.313													3	18					0	0	0	0	A	107543983	G	A	107543983	3	1	164	1	0	0	0	0	1	0	0	0	4588	1001	35	4	346	4	DLD	7	107543983	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	6859617	107543983	51594680	44	29529											
AASS	10157	broad.mit.edu	37	chr7	121738887	121738887	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaagaaccaaaacctttctCctggtgcccattgaaagtga	13	9	7	12	0	1	3	0	2	1	1	2	3	1	3	5	1	3	0	5	1	5	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:121738887C>T	ENST00000393376.1	-	13	1535	c.1440G>A	c.(1438-1440)agG>agA	p.R480R	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.R480R			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	480	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	AAACCTTTCTCCTGGTGCCCA	0.318													4	23					0	0	0	0	T	121738887	C	T	121738887	2	4	164	1	0	0	0	0	0	0	0	1	24	854	30	2		2	AASS	7	121738887	Silent	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	14194904	121738887	37399776	45	29530											
OR2A25	392138	broad.mit.edu	37	chr7	143771514	143771514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcacacctggcggtcGtcgacatcgcctgtgcttgc	4	11	10	16	4	1	0	1	0	1	0	6	1	2	0	3	2	2	1	3	2	0	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:143771514G>A	ENST00000408898.2	+	1	240	c.202G>A	c.(202-204)Gtc>Atc	p.V68I		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CCTGGCGGTCGTCGACATCGC	0.577													13	57					0	0	0	0	A	143771514	G	A	143771514	3	1	164	1	0	0	0	0	1	0	0	0	11049	1145	40	1	204	1	OR2A25	7	143771514	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	22032627	143771514	15367149	46	29531											
CHPF2	54480	broad.mit.edu	37	chr7	150933597	150933597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtgcaccctgtctccgaagGtaccctcatgtaccggctcc	6	9	9	17	3	2	0	1	0	1	0	4	1	3	0	5	2	3	4	5	2	3	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:150933597G>T	ENST00000035307.2	+	3	2445	c.932G>T	c.(931-933)gGt>gTt	p.G311V	CHPF2_ENST00000495645.1_Missense_Mutation_p.G303V	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	311						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTCTCCGAAGGTACCCTCATG	0.552													5	13					0.014758	0.0152758	1	0	T	150933597	G	T	150933597	3	4	164	1	0	0	0	0	1	0	0	0	3398	1261	44	4	942	4	CHPF2	7	150933597	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	7162083	150933597	8205066	47	29532											
ZFAND1	79752	broad.mit.edu	37	chr8	82626245	82626245	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttttggcacctttccatcGtttacttgctgtttctcctg	4	20	6	11	1	1	0	0	0	1	0	4	0	2	0	3	1	2	4	3	1	1	7			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr8:82626245G>A	ENST00000220669.5	-	6	406	c.388C>T	c.(388-390)Cga>Tga	p.R130*	ZFAND1_ENST00000517588.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000521895.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000519523.1_Nonsense_Mutation_p.R130*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	130							zinc ion binding	p.R130*(3)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTTCCATCGTTTACTTGCT	0.343													11	42					0	0	0	0	A	82626245	G	A	82626245	4	1	164	1	0	0	0	0	0	1	0	0	17721	1153	40	1	478	1	ZFAND1	8	82626245	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08		82626245	63737777	48	29533											
PHF20L1	51105	broad.mit.edu	37	chr8	133858144	133858144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacatgggcaaagtacagcaGatagcaactctttgctctgt	12	10	10	9	0	2	1	0	0	2	1	2	2	2	1	0	1	5	5	0	1	4	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr8:133858144G>C	ENST00000395386.2	+	21	3329	c.3030G>C	c.(3028-3030)caG>caC	p.Q1010H	PHF20L1_ENST00000220847.7_Missense_Mutation_p.Q397H|PHF20L1_ENST00000395390.2_Missense_Mutation_p.Q985H	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	1010							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAGTACAGCAGATAGCAACTC	0.423													7	32					0	0	0	0	C	133858144	G	C	133858144	3	2	164	1	0	0	0	0	1	0	0	0	11904	933	33	2	3204	2	PHF20L1	8	133858144	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	51231899	133858144	12505878	49	29534											
FAM135B	51059	broad.mit.edu	37	chr8	139151265	139151265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtagaggaaacatttgcGcaaatcagcattatccctga	13	11	9	8	1	1	2	1	1	0	1	2	3	2	3	1	2	3	3	1	2	4	4			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr8:139151265G>T	ENST00000395297.1	-	18	4035	c.3865C>A	c.(3865-3867)Cgc>Agc	p.R1289S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1289								p.R1289G(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAACATTTGCGCAAATCAGCA	0.438										HNSCC(54;0.14)			10	37					3.86212e-05	4.06902e-05	1	0	T	139151265	G	T	139151265	3	4	164	1	0	0	0	0	1	0	0	0	5490	1087	38	3	367	3	FAM135B	8	139151265	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	5293121	139151265	7212757	50	29535											
PLEC	5339	broad.mit.edu	37	chr8	144991442	144991442	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgccgtccgaggaggagaTggtgatctcctcccactcgc	7	7	12	15	4	1	2	0	1	1	1	5	5	3	3	4	3	0	0	4	3	0	0			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr8:144991442T>A	ENST00000322810.4	-	32	13127	c.12958A>T	c.(12958-12960)Atc>Ttc	p.I4320F	PLEC_ENST00000436759.2_Missense_Mutation_p.I4210F|PLEC_ENST00000345136.3_Missense_Mutation_p.I4183F|PLEC_ENST00000398774.2_Missense_Mutation_p.I4151F|PLEC_ENST00000354589.3_Missense_Mutation_p.I4183F|PLEC_ENST00000357649.2_Missense_Mutation_p.I4187F|PLEC_ENST00000527096.1_Missense_Mutation_p.I4206F|PLEC_ENST00000354958.2_Missense_Mutation_p.I4161F|PLEC_ENST00000356346.3_Missense_Mutation_p.I4169F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4320	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAGGAGGAGATGGTGATCTCC	0.607													12	54					0	0	0	0	A	144991442	T	A	144991442	3	1	164	1	0	0	0	0	1	0	0	0	12124	1464	51	5	1100	5	PLEC	8	144991442	Missense_Mutation	SNP	T	TCGA-CQ-A4CB-01A-11D-A25D-08	5840177	144991442	1372580	51	29536											
PCSK5	5125	broad.mit.edu	37	chr9	78790173	78790173	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaatggaatggaatggaatgGaatggaatggaatggaatcg	17	8	15	1	1	0	0	0	0	0	0	1	7	0	7	0	7	0	0	0	7	8	0			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr9:78790173G>A	ENST00000376767.3	+	14	2540	c.2028G>A	c.(2026-2028)tgG>tgA	p.W676*	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						gaatggaatggaatggaatgg	0.373													3	3					0	0	0	0	A	78790173	G	A	78790173	4	1	164	1	0	0	0	0	0	1	0	0	11674	1189	41	2		2	PCSK5	9	78790173	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08		78790173	62423258	52	29537											
VPS13A	23230	broad.mit.edu	37	chr9	79853232	79853232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcagacctccaaaagaGgtacatctagcacagctcac	13	9	6	13	0	4	2	2	0	2	2	5	2	5	2	2	1	3	3	2	1	4	4	rs113804310		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr9:79853232G>T	ENST00000360280.3	+	19	2090	c.1830G>T	c.(1828-1830)gaG>gaT	p.E610D	VPS13A_ENST00000376634.4_Missense_Mutation_p.E610D|VPS13A_ENST00000376636.3_Missense_Mutation_p.E610D|VPS13A_ENST00000357409.5_Missense_Mutation_p.E610D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	610					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTCCAAAAGAGGTACATCTAG	0.343													8	52					1.12685e-05	1.19791e-05	1	0	T	79853232	G	T	79853232	3	4	164	1	0	0	0	0	1	0	0	0	17285	991	35	4	1904	4	VPS13A	9	79853232	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	1063059	79853232	61360199	53	29538											
RASEF	158158	broad.mit.edu	37	chr9	85597629	85597629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcatctgtggtgactttTtggaattggtcccggttaga	6	17	11	7	1	3	2	1	1	2	1	4	3	4	3	1	4	0	1	1	4	2	5			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr9:85597629T>C	ENST00000376447.3	-	17	2446	c.2186A>G	c.(2185-2187)aAa>aGa	p.K729R		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	729					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGGTGACTTTTTGGAATTGGT	0.408													26	116					0	0	0	0	C	85597629	T	C	85597629	3	2	164	1	0	0	0	0	1	0	0	0	13150	1841	64	5	40	5	RASEF	9	85597629	Missense_Mutation	SNP	T	TCGA-CQ-A4CB-01A-11D-A25D-08	5744397	85597629	55615802	54	29539											
FBXO18	84893	broad.mit.edu	37	chr10	5958338	5958338	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttgcctcggctgacgaAgagctgaccattgatcacgt	8	12	10	11	3	2	4	1	3	1	1	3	5	2	4	2	1	2	2	2	1	1	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr10:5958338A>G	ENST00000379999.5	+	11	1964	c.1860A>G	c.(1858-1860)gaA>gaG	p.E620E	FBXO18_ENST00000397269.3_Silent_p.E56E|FBXO18_ENST00000379994.1_Silent_p.E306E|FBXO18_ENST00000362091.4_Silent_p.E569E	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	569					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CGGCTGACGAAGAGCTGACCA	0.478													6	98					0	0	0	0	G	5958338	A	G	5958338	2	3	164	1	0	0	0	0	0	0	0	1	5776	69	3	5		5	FBXO18	10	5958338	Silent	SNP	A	TCGA-CQ-A4CB-01A-11D-A25D-08		5958338	129576409	55	29540											
FRMPD2	143162	broad.mit.edu	37	chr10	49446166	49446166	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatctgctcctggaagagcGctggccaggggttgagaagg	8	7	18	8	1	1	2	0	1	1	2	2	5	2	4	2	6	2	3	2	6	2	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr10:49446166G>A	ENST00000374201.3	-	8	1091	c.788_splice	c.e8-1	p.R263_splice	FRMPD2_ENST00000407470.4_Splice_Site_p.R232_splice|FRMPD2_ENST00000305531.3_Splice_Site_p.R239_splice	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	263					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGGAAGAGCGCTGGCCAGGG	0.622													12	32					0	0	0	0	A	49446166	G	A	49446166	5	1	164	1	0	0	0	0	0	0	1	0	6106	1101	38	1	3228	1	FRMPD2	10	49446166	Splice_Site	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	43487828	49446166	86088581	56	29541											
HPS5	11234	broad.mit.edu	37	chr11	18327881	18327881	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttccttgtttccaatttTccaaaacttttctctaacat	9	20	1	11	0	2	0	0	0	2	0	6	0	5	0	3	0	2	1	3	0	4	8			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:18327881T>C	ENST00000396253.3	-	6	745	c.283A>G	c.(283-285)Aaa>Gaa	p.K95E	HPS5_ENST00000438420.2_Missense_Mutation_p.K95E|HPS5_ENST00000349215.3_Missense_Mutation_p.K209E|HPS5_ENST00000531848.1_Missense_Mutation_p.K95E	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	209						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTTCCAATTTTCCAAAACTTT	0.398									Hermansky-Pudlak syndrome				5	30					0	0	0	0	C	18327881	T	C	18327881	3	2	164	1	0	0	0	0	1	0	0	0	7392	1792	62	5	2832	5	HPS5	11	18327881	Missense_Mutation	SNP	T	TCGA-CQ-A4CB-01A-11D-A25D-08		18327881	116678635	57	29542											
QSER1	79832	broad.mit.edu	37	chr11	32953741	32953741	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccattgaaagagctcttcttCgagaatgtagtgttattaaa	13	14	8	6	1	2	3	0	1	2	2	3	4	2	3	1	0	1	3	1	0	6	6			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:32953741C>T	ENST00000399302.2	+	4	885	c.550C>T	c.(550-552)Cga>Tga	p.R184*	QSER1_ENST00000527788.1_Nonsense_Mutation_p.R184*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	184	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGCTCTTCTTCGAGAATGTAG	0.453													11	91					0	0	0	0	T	32953741	C	T	32953741	4	4	164	1	0	0	0	0	0	1	0	0	12964	876	31	1	556	1	QSER1	11	32953741	Nonsense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	14625860	32953741	102052775	58	29543											
LRRC4C	57689	broad.mit.edu	37	chr11	40135934	40135934	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgttttagatttgagtctCttgtacattgtctttagagt	9	20	8	4	0	2	3	0	1	2	2	3	3	2	3	0	0	1	2	0	0	4	8			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:40135934C>G	ENST00000278198.2	-	2	3872	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q	LRRC4C_ENST00000527150.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E637Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	637					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATTTGAGTCTCTTGTACATTG	0.318													6	47					0	0	0	0	G	40135934	C	G	40135934	3	3	164	1	0	0	0	0	1	0	0	0	9072	922	32	2	17	2	LRRC4C	11	40135934	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	7182193	40135934	94870582	59	29544											
FADS1	3992	broad.mit.edu	37	chr11	61580768	61580768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacagttctccaatcaggaGagagttcatatacttcttca	13	12	7	9	0	5	2	3	0	2	2	6	4	5	3	1	1	1	2	1	1	3	6			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:61580768G>A	ENST00000350997.7	-	2	665	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F	FADS2_ENST00000574708.1_Intron|FADS1_ENST00000542506.1_Missense_Mutation_p.L4F|FADS1_ENST00000433932.1_Missense_Mutation_p.L4F	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	88					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCAATCAGGAGAGAGTTCATA	0.522													24	112					0	0	0	0	A	61580768	G	A	61580768	3	1	164	1	0	0	0	0	1	0	0	0	5406	942	33	2	1116	2	FADS1	11	61580768	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	21444834	61580768	73425748	60	29545											
C11orf82	220042	broad.mit.edu	37	chr11	82644572	82644572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagacttcatccagccttCacaaaaattatccttgcaaa	15	11	4	11	0	2	2	2	1	0	1	4	2	4	2	3	0	2	1	3	0	5	4			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:82644572C>T	ENST00000533655.1	+	6	2404	c.2192C>T	c.(2191-2193)tCa>tTa	p.S731L	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.S731L|C11orf82_ENST00000329143.3_Missense_Mutation_p.S430L|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	731					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATCCAGCCTTCACAAAAATTA	0.368													14	53					0	0	0	0	T	82644572	C	T	82644572	3	4	164	1	0	0	0	0	1	0	0	0	1676	838	29	2	2206	2	C11orf82	11	82644572	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	21063804	82644572	52361944	61	29546											
HSPA8	3312	broad.mit.edu	37	chr11	122928524	122928535	+	In_Frame_Del	DEL	CCTCCTGGCATG	CCTCCTGGCATG	-																															caggaaatcccccaggcattCctcctggcatgcctcctgca																										TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:122928524_122928535delCCTCCTGGCATG	ENST00000534624.1	-	9	2124_2135	c.1848_1859delCATGCCAGGAGG	c.(1846-1860)gga>gg	p.GMPGG616del	HSPA8_ENST00000227378.3_In_Frame_Del_p.GMPGG616del|HSPA8_ENST00000532636.1_In_Frame_Del_p.GMPGG616del|HSPA8_ENST00000453788.2_Splice_Site_p.GMPGG463_splice|HSPA8_ENST00000526110.1_In_Frame_Del_p.GMPGG597del|HSPA8_ENST00000534319.1_In_Frame_Del_p.GMPGG380del|HSPA8_ENST00000533540.1_In_Frame_Del_p.GMPGG470del	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	616					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCCAGGCATTCCTCCTGGCATGCCTCCTGCAC	0.519													15	85	---	---	---	---					-	122928535	CCTCCTGGCATG	-	122928524	7	5	164	1	0	1	0	1	0	0	0	0	7468	855	30	0	85	0	HSPA8	11	122928524	In_Frame_Del	DEL	CCTCCTGGCATG	TCGA-CQ-A4CB-01A-11D-A25D-08	40283952	122928524	12077992	62	29547											
TRPC4	7223	broad.mit.edu	37	chr13	38225478	38225478	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagatccatttgatcaggTaccagagagacttggggctc	10	10	11	10	0	1	4	1	1	0	3	4	5	3	4	3	3	1	2	3	3	1	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr13:38225478T>A	ENST00000379705.3	-	8	2860	c.2003A>T	c.(2002-2004)tAc>tTc	p.Y668F	TRPC4_ENST00000379681.3_Missense_Mutation_p.Y668F|TRPC4_ENST00000447043.1_Missense_Mutation_p.Y668F|TRPC4_ENST00000355779.2_Missense_Mutation_p.Y668F|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.Y495F|TRPC4_ENST00000338947.5_Missense_Mutation_p.Y495F|TRPC4_ENST00000358477.2_Missense_Mutation_p.Y668F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	668	Binds to ITPR1, ITPR2 and ITPR3.				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)		TTTGATCAGGTACCAGAGAGA	0.423													15	30					0	0	0	0	A	38225478	T	A	38225478	3	1	164	1	0	0	0	0	1	0	0	0	16675	1638	57	5	961	5	TRPC4	13	38225478	Missense_Mutation	SNP	T	TCGA-CQ-A4CB-01A-11D-A25D-08		38225478	76944400	63	29548											
OLFM4	10562	broad.mit.edu	37	chr13	53624329	53624329	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctattgtatataaatgctcGagagttgcggatcacctatg	11	13	10	7	2	1	1	1	0	0	1	2	3	1	2	1	1	2	4	1	1	6	7	rs144683972		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr13:53624329G>C	ENST00000219022.2	+	5	1034	c.956G>C	c.(955-957)cGa>cCa	p.R319P		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	319	Olfactomedin-like.				cell adhesion	extracellular space		p.R319Q(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATAAATGCTCGAGAGTTGCGG	0.433													25	78					0	0	0	0	C	53624329	G	C	53624329	3	2	164	1	0	0	0	0	1	0	0	0	10926	1058	37	3	974	3	OLFM4	13	53624329	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	15398851	53624329	61545549	64	29549											
IPO5	3843	broad.mit.edu	37	chr13	98658459	98658459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttgccgatactgcagaaGaaaaatttgtcccctactat	13	11	7	10	1	0	2	0	0	0	2	1	3	1	2	3	0	4	2	3	0	6	5	rs632729		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr13:98658459G>A	ENST00000261574.5	+	17	1807	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	IPO5_ENST00000539640.1_Missense_Mutation_p.E400K|IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000490680.1_Missense_Mutation_p.E525K	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	525					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TACTGCAGAAGAAAAATTTGT	0.383													11	89					0	0	0	0	A	98658459	G	A	98658459	3	1	164	1	0	0	0	0	1	0	0	0	7849	943	33	2	1685	2	IPO5	13	98658459	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	45034130	98658459	16511419	65	29550											
LIG4	3981	broad.mit.edu	37	chr13	108860946	108860946	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatcagttacccaactttCttttaggattttaaactttc	11	18	4	8	0	2	1	1	1	1	0	3	2	2	2	1	1	3	1	1	1	6	7			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr13:108860946C>G	ENST00000356922.4	-	2	2943	c.2671G>C	c.(2671-2673)Gaa>Caa	p.E891Q	LIG4_ENST00000405925.1_Missense_Mutation_p.E891Q|LIG4_ENST00000442234.1_Missense_Mutation_p.E891Q	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	891	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ACCCAACTTTCTTTTAGGATT	0.343								Non-homologous end-joining					16	29					0	0	0	0	G	108860946	C	G	108860946	3	3	164	1	0	0	0	0	1	0	0	0	8837	922	32	2	68	2	LIG4	13	108860946	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	10202487	108860946	6308932	66	29551											
RNASE2	6036	broad.mit.edu	37	chr14	21424015	21424015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggctcactccatgtcaaaCctccacagtttacctgggct	9	10	8	14	0	2	0	2	0	0	0	4	0	4	0	4	2	2	3	4	2	2	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr14:21424015C>T	ENST00000304625.2	+	2	175	c.85C>T	c.(85-87)Cct>Tct	p.P29S		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	29					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		CCATGTCAAACCTCCACAGTT	0.453													9	66					0	0	0	0	T	21424015	C	T	21424015	3	4	164	1	0	0	0	0	1	0	0	0	13489	507	18	4	87	4	RNASE2	14	21424015	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08		21424015	85925525	67	29552											
KHNYN	23351	broad.mit.edu	37	chr14	24901213	24901213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggagattgcaggggagcaaGgggagacacttacgctgtgg	10	6	18	7	2	0	2	0	0	0	2	0	5	0	3	0	6	3	3	0	6	2	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr14:24901213G>A	ENST00000251343.5	+	3	885	c.746G>A	c.(745-747)aGg>aAg	p.R249K	KHNYN_ENST00000556842.1_Missense_Mutation_p.R249K|KHNYN_ENST00000553935.1_Missense_Mutation_p.R249K			O15037	KHNYN_HUMAN	KH and NYN domain containing	249										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						AGGGGAGCAAGGGGAGACACT	0.617											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	55					0	0	0	0	A	24901213	G	A	24901213	3	1	164	1	0	0	0	0	1	0	0	0	8201	1000	35	4	752	4	KHNYN	14	24901213	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	3477198	24901213	82448327	68	29553											
PRKD1	5587	broad.mit.edu	37	chr14	30100021	30100021	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggcatgctggatggctatCtcccacatcctggccacatc	8	9	10	14	0	1	0	0	0	1	0	4	1	2	1	3	4	1	3	3	4	1	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr14:30100021C>G	ENST00000331968.5	-	10	1828	c.1599G>C	c.(1597-1599)gaG>gaC	p.E533D	PRKD1_ENST00000415220.2_Missense_Mutation_p.E541D	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	533	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGATGGCTATCTCCCACATCC	0.522													12	74					0	0	0	0	G	30100021	C	G	30100021	3	3	164	1	0	0	0	0	1	0	0	0	12598	912	32	2	1175	2	PRKD1	14	30100021	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	5198808	30100021	77249519	69	29554											
SOCS4	122809	broad.mit.edu	37	chr14	55510556	55510556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacctcctaaataccacaCgcagattgattatgtccact	14	10	4	13	1	0	2	0	1	0	1	2	2	2	2	4	0	2	1	4	0	5	4			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr14:55510556C>T	ENST00000395472.2	+	2	1129	c.797C>T	c.(796-798)aCg>aTg	p.T266M	SOCS4_ENST00000555846.1_Missense_Mutation_p.T266M|SOCS4_ENST00000339298.2_Missense_Mutation_p.T266M	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	266					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AAATACCACACGCAGATTGAT	0.418													16	60					0	0	0	0	T	55510556	C	T	55510556	3	4	164	1	0	0	0	0	1	0	0	0	15004	536	19	1	799	1	SOCS4	14	55510556	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	25410535	55510556	51838984	70	29555											
TYRO3	7301	broad.mit.edu	37	chr15	41859694	41859694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaatgccttggggccctCtccctatgctgactgggtgc	4	11	12	14	0	1	1	0	1	1	0	2	1	1	1	4	3	4	1	4	3	2	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr15:41859694C>T	ENST00000263798.3	+	7	1144	c.920C>T	c.(919-921)tCt>tTt	p.S307F	TYRO3_ENST00000559066.1_Missense_Mutation_p.S262F	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	307	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TTGGGGCCCTCTCCCTATGCT	0.647													21	99					0	0	0	0	T	41859694	C	T	41859694	3	4	164	1	0	0	0	0	1	0	0	0	16910	913	32	2	946	2	TYRO3	15	41859694	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08		41859694	60671698	71	29556											
FBN1	2200	broad.mit.edu	37	chr15	48755289	48755289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaaactcacctgtacttggGatgggacactgttcacaggg	11	10	11	9	0	2	0	2	0	0	0	2	2	2	2	1	3	2	2	1	3	3	4			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr15:48755289G>A	ENST00000316623.5	-	42	5669	c.5214C>T	c.(5212-5214)atC>atT	p.I1738I		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1738	TB 7.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGTACTTGGGATGGGACACT	0.428													22	80					0	0	0	0	A	48755289	G	A	48755289	2	1	164	1	0	0	0	0	0	0	0	1	5747	1164	41	2		2	FBN1	15	48755289	Silent	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	6895595	48755289	53776103	72	29557											
CACNG3	10368	broad.mit.edu	37	chr16	24372741	24372741	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccccgggcagcgtgacTccaaaaaaagttactcctat	13	7	9	12	2	0	2	0	1	0	1	2	3	2	2	4	1	2	2	4	1	5	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr16:24372741T>A	ENST00000005284.3	+	4	1707	c.505T>A	c.(505-507)Tcc>Acc	p.S169T		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	169					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAGCGTGACTCCAAAAAAAG	0.443													33	122					0	0	0	0	A	24372741	T	A	24372741	3	1	164	1	0	0	0	0	1	0	0	0	2583	1551	54	5	519	5	CACNG3	16	24372741	Missense_Mutation	SNP	T	TCGA-CQ-A4CB-01A-11D-A25D-08		24372741	65982012	73	29558											
WDR59	79726	broad.mit.edu	37	chr16	75018899	75018899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaccacgttttcgctgCtccatcgcgccgccatctcc	6	10	6	19	5	1	0	0	0	1	0	5	0	2	0	5	0	3	3	5	0	2	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr16:75018899C>T	ENST00000262144.6	-	1	147	c.17G>A	c.(16-18)aGc>aAc	p.S6N	WDR59_ENST00000562331.1_Intron	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	6										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GTTTTCGCTGCTCCATCGCGC	0.726													3	8					0	0	0	0	T	75018899	C	T	75018899	3	4	164	1	0	0	0	0	1	0	0	0	17404	797	28	4	3011	4	WDR59	16	75018899	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	50646158	75018899	15335854	74	29559											
TP53	7157	broad.mit.edu	37	chr17	7578196	7578196	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggcggctcatagggcAccaccacactatgtcgaaaa	12	6	9	14	2	2	0	2	0	0	0	3	1	2	0	3	3	0	2	3	3	4	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:7578196A>C	ENST00000420246.2	-	6	785	c.653T>G	c.(652-654)gTg>gGg	p.V218G	TP53_ENST00000359597.4_Missense_Mutation_p.V218G|TP53_ENST00000445888.2_Missense_Mutation_p.V218G|TP53_ENST00000455263.2_Missense_Mutation_p.V218G|TP53_ENST00000413465.2_Missense_Mutation_p.V218G|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.V218G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	218	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.V218E(8)|p.0?(8)|p.V218G(5)|p.V218del(5)|p.V218A(3)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCATAGGGCACCACCACACT	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	20					0	0	0	0	C	7578196	A	C	7578196	3	2	164	1	0	0	0	0	1	0	0	0	16476	159	6	5	641	5	TP53	17	7578196	Missense_Mutation	SNP	A	TCGA-CQ-A4CB-01A-11D-A25D-08		7578196	73617014	75	29560											
MYH8	4626	broad.mit.edu	37	chr17	10297616	10297616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcatccaggagctcctgttCggcgattttcctgcttctct	4	14	10	13	2	1	0	0	0	1	0	6	2	4	1	3	3	2	4	3	3	0	4			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:10297616C>T	ENST00000403437.2	-	35	5210	c.5116G>A	c.(5116-5118)Gaa>Aaa	p.E1706K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1706					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGCTCCTGTTCGGCGATTTTC	0.562									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				13	55					0	0	0	0	T	10297616	C	T	10297616	3	4	164	1	0	0	0	0	1	0	0	0	10111	893	31	1	721	1	MYH8	17	10297616	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	2719420	10297616	70897594	76	29561											
LRRC48	83450	broad.mit.edu	37	chr17	17896185	17896185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgtgcctaccttcctgAcctcatgtacctggactacc	7	12	6	16	0	2	1	1	1	1	0	3	2	3	2	6	1	4	1	6	1	3	4			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:17896185A>G	ENST00000313838.8	+	7	930	c.551A>G	c.(550-552)gAc>gGc	p.D184G	LRRC48_ENST00000399187.1_Missense_Mutation_p.D184G|LRRC48_ENST00000399182.1_Missense_Mutation_p.D184G|LRRC48_ENST00000411504.2_Missense_Mutation_p.D184G|LRRC48_ENST00000584166.1_Missense_Mutation_p.D184G	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	184	LRRCT.					cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TACCTTCCTGACCTCATGTAC	0.557													3	31					0	0	0	0	G	17896185	A	G	17896185	3	3	164	1	0	0	0	0	1	0	0	0	9069	275	10	5	565	5	LRRC48	17	17896185	Missense_Mutation	SNP	A	TCGA-CQ-A4CB-01A-11D-A25D-08	7598569	17896185	63299025	77	29562											
GIT1	28964	broad.mit.edu	37	chr17	27908805	27908805	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagccggtcagtgagctCatattggcactcaaccagcc	9	7	11	14	1	3	1	3	1	0	0	3	1	3	1	4	3	4	2	4	3	2	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:27908805C>A	ENST00000225394.3	-	6	921	c.673G>T	c.(673-675)Gag>Tag	p.E225*	GIT1_ENST00000581348.1_Nonsense_Mutation_p.E225*|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Nonsense_Mutation_p.E225*|GIT1_ENST00000394869.3_Nonsense_Mutation_p.E225*	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	225					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TCAGTGAGCTCATATTGGCAC	0.662													6	26					0.0293803	0.0301468	1	0	A	27908805	C	A	27908805	4	1	164	1	0	0	0	0	0	1	0	0	6447	835	29	2	1703	2	GIT1	17	27908805	Nonsense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	10012620	27908805	53286405	78	29563											
CRLF3	51379	broad.mit.edu	37	chr17	29119578	29119578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagactgtacccctcaaaaCcagctgtccactctttttca	10	12	4	15	0	4	1	3	0	1	1	5	1	5	1	4	0	3	2	4	0	3	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:29119578C>T	ENST00000324238.6	-	6	963	c.839G>A	c.(838-840)gGt>gAt	p.G280D	CTD-2349P21.9_ENST00000580085.1_lincRNA|CRLF3_ENST00000544695.1_Missense_Mutation_p.G164D|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	280					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				CCCCTCAAAACCAGCTGTCCA	0.403													14	78					0	0	0	0	T	29119578	C	T	29119578	3	4	164	1	0	0	0	0	1	0	0	0	3918	507	18	4	501	4	CRLF3	17	29119578	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	1210773	29119578	52075632	79	29564											
UNK	85451	broad.mit.edu	37	chr17	73818688	73818688	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcggcaagagctggatgaAgccaacagcaccatcaagca	14	5	10	12	1	1	2	1	1	0	1	2	3	1	3	2	2	5	4	2	2	4	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:73818688A>T	ENST00000293218.3	+	15	2196	c.2196A>T	c.(2194-2196)gaA>gaT	p.E732D	UNK_ENST00000589666.1_Missense_Mutation_p.E656D			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	656							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTGGATGAAGCCAACAGCA	0.642													12	44					0	0	0	0	T	73818688	A	T	73818688	3	4	164	1	0	0	0	0	1	0	0	0	17096	69	3	5	2254	5	UNK	17	73818688	Missense_Mutation	SNP	A	TCGA-CQ-A4CB-01A-11D-A25D-08	44699110	73818688	7376522	80	29565											
RNF157	114804	broad.mit.edu	37	chr17	74208539	74208539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaacttctctcctcccataAtgaagtggctggcaaaatag	13	10	7	11	0	1	1	0	1	1	0	4	1	3	1	2	2	1	2	2	2	6	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:74208539A>G	ENST00000269391.6	-	2	245	c.113T>C	c.(112-114)aTt>aCt	p.I38T	RNF157_ENST00000319945.6_Missense_Mutation_p.I38T|RNF157_ENST00000592271.1_Missense_Mutation_p.I38T	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	38							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TCCTCCCATAATGAAGTGGCT	0.398													9	36					0	0	0	0	G	74208539	A	G	74208539	3	3	164	1	0	0	0	0	1	0	0	0	13539	101	4	5	1998	5	RNF157	17	74208539	Missense_Mutation	SNP	A	TCGA-CQ-A4CB-01A-11D-A25D-08	389851	74208539	6986671	81	29566											
NFATC1	4772	broad.mit.edu	37	chr18	77193673	77193673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtcccaccaccgagccCactacgagacggagggcagc	11	2	11	17	3	0	1	0	0	0	1	1	4	1	2	5	2	3	1	5	2	2	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr18:77193673C>T	ENST00000253506.5	+	3	1690	c.1321C>T	c.(1321-1323)Cac>Tac	p.H441Y	NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000542384.1_Missense_Mutation_p.H441Y|NFATC1_ENST00000318065.5_Missense_Mutation_p.H428Y|NFATC1_ENST00000427363.2_Missense_Mutation_p.H441Y|NFATC1_ENST00000587635.1_Missense_Mutation_p.H441Y|NFATC1_ENST00000329101.4_Missense_Mutation_p.H428Y|NFATC1_ENST00000592223.1_Missense_Mutation_p.H428Y|NFATC1_ENST00000591814.1_Missense_Mutation_p.H441Y|NFATC1_ENST00000586434.1_Missense_Mutation_p.H428Y	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	441	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCACCGAGCCCACTACGAGAC	0.687													15	49					0	0	0	0	T	77193673	C	T	77193673	3	4	164	1	0	0	0	0	1	0	0	0	10431	594	21	4	1423	4	NFATC1	18	77193673	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08		77193673	883575	82	29567											
ZNF555	148254	broad.mit.edu	37	chr19	2852908	2852908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataacacacactggcgagaAgccatataaatgtaaggaat	19	7	8	7	1	0	1	0	0	0	1	0	3	0	2	1	2	2	1	1	2	8	4			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:2852908A>G	ENST00000334241.4	+	4	983	c.845A>G	c.(844-846)aAg>aGg	p.K282R	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.K281R	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		ACTGGCGAGAAGCCATATAAA	0.403													7	52					0	0	0	0	G	2852908	A	G	2852908	3	3	164	1	0	0	0	0	1	0	0	0	18081	72	3	5	859	5	ZNF555	19	2852908	Missense_Mutation	SNP	A	TCGA-CQ-A4CB-01A-11D-A25D-08		2852908	56276075	83	29568											
DAPK3	1613	broad.mit.edu	37	chr19	3964800	3964800	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaccacgtccgtcttgttCtcgaagatgtcgtgcagggt	7	11	13	10	4	2	1	0	0	2	1	5	3	3	2	2	2	1	2	2	2	1	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:3964800C>T	ENST00000545797.2	-	3	495	c.252G>A	c.(250-252)gaG>gaA	p.E84E	DAPK3_ENST00000301264.3_Silent_p.E84E			O43293	DAPK3_HUMAN	death-associated protein kinase 3	84	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTCTTGTTCTCGAAGATGT	0.642													10	49					0	0	0	0	T	3964800	C	T	3964800	2	4	164	1	0	0	0	0	0	0	0	1	4270	912	32	2		2	DAPK3	19	3964800	Silent	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	1111892	3964800	55164183	84	29569											
MUC16	94025	broad.mit.edu	37	chr19	9006365	9006365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagcaaggtcagtctgcagCcagaatacagagggccaaca	14	5	12	10	0	2	3	1	1	1	2	2	3	2	3	2	2	5	2	2	2	4	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:9006365C>A	ENST00000397910.4	-	45	39856	c.39653G>T	c.(39652-39654)gGc>gTc	p.G13218V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13220	SEA 8.				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						CAGTCTGCAGCCAGAATACAG	0.527													4	77					0.014758	0.0152758	1	0	A	9006365	C	A	9006365	3	1	164	1	0	0	0	0	1	0	0	0	10043	739	26	4	4030	4	MUC16	19	9006365	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	5041565	9006365	50122618	85	29570											
EIF3G	8666	broad.mit.edu	37	chr19	10226178	10226178	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccactcgacgttgaggatGaggtggtcgtagccaaagcc	9	7	14	11	3	0	2	0	2	0	0	2	4	0	3	3	3	2	2	3	3	2	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:10226178G>C	ENST00000253108.4	-	10	966	c.924C>G	c.(922-924)ctC>ctG	p.L308L		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	308	RRM.					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CGTTGAGGATGAGGTGGTCGT	0.632													11	49					0	0	0	0	C	10226178	G	C	10226178	2	2	164	1	0	0	0	0	0	0	0	1	5055	1277	45	2		2	EIF3G	19	10226178	Silent	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	1219813	10226178	48902805	86	29571											
TMEM38A	79041	broad.mit.edu	37	chr19	16799059	16799059	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggggtgaccatcaccaCgacaaccatggtgggtccca	9	6	13	13	2	1	1	1	1	0	0	2	2	2	1	4	4	2	0	4	4	1	0			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:16799059C>T	ENST00000187762.2	+	6	868	c.777C>T	c.(775-777)caC>caT	p.H259H		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	259						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ACCATCACCACGACAACCATG	0.632													32	131					0	0	0	0	T	16799059	C	T	16799059	2	4	164	1	0	0	0	0	0	0	0	1	16253	535	19	1		1	TMEM38A	19	16799059	Silent	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	6572881	16799059	42329924	87	29572											
USHBP1	83878	broad.mit.edu	37	chr19	17373777	17373777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccagttccctgccagagcCcccatccatcttcttgtcag	6	10	8	17	0	3	1	1	0	2	1	5	1	5	1	6	1	2	1	6	1	0	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:17373777C>T	ENST00000252597.3	-	4	399	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	USHBP1_ENST00000431146.2_Missense_Mutation_p.G12S|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	76							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTGCCAGAGCCCCCATCCATC	0.547													18	64					0	0	0	0	T	17373777	C	T	17373777	3	4	164	1	0	0	0	0	1	0	0	0	17133	623	22	4	1925	4	USHBP1	19	17373777	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	574718	17373777	41755206	88	29573											
ZNF493	284443	broad.mit.edu	37	chr19	21606524	21606524	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagatgtgaagaatatTgcaaagcttataaggagtcc	15	9	9	8	0	0	3	0	1	0	2	1	4	1	4	2	1	2	2	2	1	6	4			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:21606524T>G	ENST00000392288.2	+	4	1172	c.1063T>G	c.(1063-1065)Tgc>Ggc	p.C355G	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.C227G	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGAAGAATATTGCAAAGCTTA	0.358													7	45					0	0	0	0	G	21606524	T	G	21606524	3	3	164	1	0	0	0	0	1	0	0	0	18039	1812	63	5	1140	5	ZNF493	19	21606524	Missense_Mutation	SNP	T	TCGA-CQ-A4CB-01A-11D-A25D-08	4232747	21606524	37522459	89	29574											
ZNF681	148213	broad.mit.edu	37	chr19	23927938	23927938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattgaaatattttgctCtgggtagttggcaaacattg	11	15	9	6	0	2	1	1	1	1	0	2	1	2	1	0	2	2	4	0	2	4	7			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:23927938C>A	ENST00000402377.3	-	4	555	c.414G>T	c.(412-414)caG>caT	p.Q138H	ZNF681_ENST00000395385.3_Missense_Mutation_p.Q69H	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATATTTTGCTCTGGGTAGTTG	0.294													3	17					0.115264	0.116249	1	0	A	23927938	C	A	23927938	3	1	164	1	0	0	0	0	1	0	0	0	18183	912	32	2	1527	2	ZNF681	19	23927938	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	2321414	23927938	35201045	90	29575											
NPHS1	4868	broad.mit.edu	37	chr19	36332691	36332691	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgtgaagagggcgtaaTcctgggcggcagacacgttg	10	8	15	8	3	0	3	0	1	0	2	1	3	1	3	1	3	1	3	1	3	3	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:36332691T>C	ENST00000378910.5	-	20	2740	c.2741A>G	c.(2740-2742)gAt>gGt	p.D914G	NPHS1_ENST00000353632.6_Missense_Mutation_p.D914G	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	914	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGGGCGTAATCCTGGGCGGC	0.572													4	35					0	0	0	0	C	36332691	T	C	36332691	3	2	164	1	0	0	0	0	1	0	0	0	10652	1435	50	5	1024	5	NPHS1	19	36332691	Missense_Mutation	SNP	T	TCGA-CQ-A4CB-01A-11D-A25D-08	12404753	36332691	22796292	91	29576											
CEACAM19	56971	broad.mit.edu	37	chr19	45175995	45175995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcccagacaccttccaGgacttcaactggtacctggg	8	9	11	13	0	1	1	1	0	0	1	3	2	3	2	4	4	2	1	4	4	2	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:45175995G>A	ENST00000358777.4	+	2	663	c.183G>A	c.(181-183)caG>caA	p.Q61Q	CEACAM19_ENST00000403660.3_Silent_p.Q61Q|CEACAM19_ENST00000480278.1_3'UTR|CTB-171A8.1_ENST00000590796.1_RNA	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	61						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				ACACCTTCCAGGACTTCAACT	0.567													6	58					0	0	0	0	A	45175995	G	A	45175995	2	1	164	1	0	0	0	0	0	0	0	1	3219	991	35	4		4	CEACAM19	19	45175995	Silent	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	8843304	45175995	13952988	92	29577											
SIRPB2	284759	broad.mit.edu	37	chr20	1459088	1459088	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagatgcctccaaagtTgtaaatggcctcccggctca	9	9	12	11	1	1	1	1	0	0	1	3	2	3	1	4	3	1	3	4	3	3	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr20:1459088T>G	ENST00000359801.3	-	3	652	c.616A>C	c.(616-618)Aac>Cac	p.N206H	SIRPB2_ENST00000444444.1_Missense_Mutation_p.N108H|SIRPB2_ENST00000537284.1_Missense_Mutation_p.N68H|SIRPB2_ENST00000381630.1_Missense_Mutation_p.N108H	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	206	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCTCCAAAGTTGTAAATGGCC	0.567													3	41					0	0	0	0	G	1459088	T	G	1459088	3	3	164	1	0	0	0	0	1	0	0	0	14422	1812	63	5	424	5	SIRPB2	20	1459088	Missense_Mutation	SNP	T	TCGA-CQ-A4CB-01A-11D-A25D-08		1459088	61566432	93	29578											
ESF1	51575	broad.mit.edu	37	chr20	13763786	13763786	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatttcttgtttggatgacaTttttaattcttaatctcgac	9	21	5	6	1	3	1	0	1	3	0	4	3	3	2	0	1	0	1	0	1	3	9			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr20:13763786T>A	ENST00000202816.1	-	2	108	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTGGATGACATTTTTAATTCT	0.318													8	33					0	0	0	0	A	13763786	T	A	13763786	1	1	164	1	0	0	0	0	0	0	0	0	5289	1493	52	5		5	ESF1	20	13763786	Translation_Start_Site	SNP	T	TCGA-CQ-A4CB-01A-11D-A25D-08	12304698	13763786	49261734	94	29579											
SLC12A5	57468	broad.mit.edu	37	chr20	44682334	44682334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacgcatcactgcggaggtcGaggtggtggagatggtgagt	8	9	18	6	3	1	2	1	1	0	1	2	5	1	3	0	6	2	1	0	6	1	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr20:44682334G>A	ENST00000454036.1	+	20	2810	c.2734G>A	c.(2734-2736)Gag>Aag	p.E912K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E889K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	912					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCGGAGGTCGAGGTGGTGGA	0.542													19	86					0	0	0	0	A	44682334	G	A	44682334	3	1	164	1	0	0	0	0	1	0	0	0	14474	1059	37	1	2868	1	SLC12A5	20	44682334	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	30918548	44682334	18343186	95	29580											
MYT1	4661	broad.mit.edu	37	chr20	62871146	62871146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagaacctgaagaacatcGaggaggagaacaagctcatt	18	5	11	7	1	1	5	1	1	0	4	2	8	1	6	1	2	4	1	1	2	6	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr20:62871146G>A	ENST00000536311.1	+	22	3572	c.3208G>A	c.(3208-3210)Gag>Aag	p.E1070K	MYT1_ENST00000328439.1_Missense_Mutation_p.E1043K			Q01538	MYT1_HUMAN	myelin transcription factor 1	1043					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAAGAACATCGAGGAGGAGAA	0.577													15	66					0	0	0	0	A	62871146	G	A	62871146	3	1	164	1	0	0	0	0	1	0	0	0	10176	1059	37	1	3205	1	MYT1	20	62871146	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	18188812	62871146	154374	96	29581											
TTC3	7267	broad.mit.edu	37	chr21	38538034	38538034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caactgtattgcactgaagaAggttgcatcacggctcaaga	13	9	10	9	1	2	3	2	1	0	2	2	3	2	3	0	2	3	5	0	2	5	3			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr21:38538034A>G	ENST00000399017.2	+	33	6265	c.3518A>G	c.(3517-3519)aAg>aGg	p.K1173R	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.K1173R|TTC3_ENST00000354749.2_Missense_Mutation_p.K1173R	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1173	Arg/Lys-rich (basic).				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCACTGAAGAAGGTTGCATCA	0.368													18	126					0	0	0	0	G	38538034	A	G	38538034	3	3	164	1	0	0	0	0	1	0	0	0	16793	72	3	5	3644	5	TTC3	21	38538034	Missense_Mutation	SNP	A	TCGA-CQ-A4CB-01A-11D-A25D-08		38538034	9591861	97	29582											
MICAL3	57553	broad.mit.edu	37	chr22	18389389	18389389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaattttgcccagagggCtttggctttccagtagttaa	8	14	10	9	0	0	1	0	0	0	1	2	1	2	1	3	2	1	4	3	2	3	6			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:18389389C>T	ENST00000441493.2	-	2	542	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	MICAL3_ENST00000585038.1_Missense_Mutation_p.A64T|MICAL3_ENST00000400561.2_Missense_Mutation_p.A64T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A64T|MICAL3_ENST00000429452.1_Missense_Mutation_p.A64T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A64T|MICAL3_ENST00000383094.3_Missense_Mutation_p.A64T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A64T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	64						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCCCAGAGGGCTTTGGCTTTC	0.502													37	108					0	0	0	0	T	18389389	C	T	18389389	3	4	164	1	0	0	0	0	1	0	0	0	9640	797	28	4	6679	4	MICAL3	22	18389389	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08		18389389	32915177	98	29583											
MRPL40	64976	broad.mit.edu	37	chr22	19423198	19423198	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcacctttgaggagactGagaggagagctctgcttctg	9	10	13	9	0	3	4	1	2	2	3	3	7	3	4	1	2	3	3	1	2	0	2			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:19423198G>C	ENST00000333130.3	+	4	987	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000471259.1_3'UTR	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	112					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TGAGGAGACTGAGAGGAGAGC	0.522													37	198					0	0	0	0	C	19423198	G	C	19423198	3	2	164	1	0	0	0	0	1	0	0	0	9874	1291	45	2	348	2	MRPL40	22	19423198	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	1033809	19423198	31881368	99	29584											
SYNGR1	9145	broad.mit.edu	37	chr22	39746049	39746049	+	Frame_Shift_Del	DEL	G	G	-																															cgtacggagcgggcaaagccGggggcgccttcgacccctac																										TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:39746049delG	ENST00000328933.5	+	1	49	c.34delG	c.(34-36)ggfs	p.G13fs	SYNGR1_ENST00000318801.4_Frame_Shift_Del_p.G13fs|SYNGR1_ENST00000216155.7_Frame_Shift_Del_p.G13fs|SYNGR1_ENST00000406293.3_Frame_Shift_Del_p.G13fs	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					GGGCAAAGCCGGGGGCGCCTT	0.766													2	4	---	---	---	---					-	39746049	G	-	39746049	7	5	164	1	0	1	0	1	0	0	0	0	15539	1116	39	0	36	0	SYNGR1	22	39746049	Frame_Shift_Del	DEL	G	TCGA-CQ-A4CB-01A-11D-A25D-08	20322851	39746049	11558517	100	29585											
CELSR1	9620	broad.mit.edu	37	chr22	46931868	46931868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagagctctcgttgagctgGaagacgtcccacgcgccccc	7	6	11	17	4	1	3	0	1	1	2	3	4	2	4	4	1	2	3	4	1	1	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:46931868G>T	ENST00000262738.3	-	1	1199	c.1200C>A	c.(1198-1200)ttC>ttA	p.F400L	CELSR1_ENST00000395964.1_Missense_Mutation_p.F400L	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	400	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGTTGAGCTGGAAGACGTCCC	0.687													3	26					2.56e-06	2.77138e-06	1	0	T	46931868	G	T	46931868	3	4	164	1	0	0	0	0	1	0	0	0	3250	1165	41	2	7984	2	CELSR1	22	46931868	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	7185819	46931868	4372698	101	29586											
TRABD	80305	broad.mit.edu	37	chr22	50636403	50636403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaggccgcgcggcgcctcGagctgcctcgggcctctgac	3	5	15	18	6	1	1	0	1	1	0	3	2	1	1	5	3	2	1	5	3	0	0			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:50636403G>A	ENST00000303434.4	+	8	942	c.823G>A	c.(823-825)Gag>Aag	p.E275K	TRABD_ENST00000395829.1_Missense_Mutation_p.E275K|TRABD_ENST00000395827.1_Missense_Mutation_p.E275K|TRABD_ENST00000380909.4_Missense_Mutation_p.E275K	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	275										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GCGGCGCCTCGAGCTGCCTCG	0.692													14	59					0	0	0	0	A	50636403	G	A	50636403	3	1	164	1	0	0	0	0	1	0	0	0	16530	1059	37	1	849	1	TRABD	22	50636403	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	3704535	50636403	668163	102	29587											
HUWE1	10075	broad.mit.edu	37	chrX	53619411	53619411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggcgggagccaccttcctCttgccctgtatcctcttctc	3	12	8	18	2	3	0	0	0	3	0	6	1	5	1	6	2	2	1	6	2	1	4			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chrX:53619411C>G	ENST00000342160.3	-	32	4376	c.3919G>C	c.(3919-3921)Gag>Cag	p.E1307Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.E1307Q|HUWE1_ENST00000218328.8_Missense_Mutation_p.E1307Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1307					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCACCTTCCTCTTGCCCTGTA	0.562													11	47					0	0	0	0	G	53619411	C	G	53619411	3	3	164	1	0	0	0	0	1	0	0	0	7514	922	32	2	9413	2	HUWE1	23	53619411	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08		53619411	101651149	103	29588											
DIAPH2	1730	broad.mit.edu	37	chrX	96136680	96136680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaacttcttaattgcctaGaatccctcagggtttcttta	11	15	6	9	0	3	2	1	0	2	2	4	2	4	2	2	1	2	1	2	1	5	7			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chrX:96136680G>C	ENST00000324765.8	+	5	897	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	DIAPH2_ENST00000373061.3_Missense_Mutation_p.E184Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.E180Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E184Q|DIAPH2_ENST00000355827.4_Missense_Mutation_p.E184Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	184	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TAATTGCCTAGAATCCCTCAG	0.383													10	12					0	0	0	0	C	96136680	G	C	96136680	3	2	164	1	0	0	0	0	1	0	0	0	4556	943	33	2	568	2	DIAPH2	23	96136680	Missense_Mutation	SNP	G	TCGA-CQ-A4CB-01A-11D-A25D-08	42517269	96136680	59133880	104	29589											
ABCD1	215	broad.mit.edu	37	chrX	153001569	153001569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctggggctttgcagatgCagaggccgtgaagaaggcag	9	7	16	9	1	1	4	0	1	1	3	1	4	1	4	2	4	2	4	2	4	2	1			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chrX:153001569C>T	ENST00000218104.3	+	3	1484	c.1085C>T	c.(1084-1086)gCa>gTa	p.A362V	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	362	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTGCAGATGCAGAGGCCGTG	0.622													12	23					0	0	0	0	T	153001569	C	T	153001569	3	4	164	1	0	0	0	0	1	0	0	0	60	710	25	4	1095	4	ABCD1	23	153001569	Missense_Mutation	SNP	C	TCGA-CQ-A4CB-01A-11D-A25D-08	56864889	153001569	2268991	105	29590											
AURKAIP1	54998	broad.mit.edu	37	chr1	1309521	1309521	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaatttgaggcgcatccgcGacgccttcatccccctgctc	6	10	9	16	4	1	2	1	2	0	0	4	3	3	2	4	1	1	2	4	1	1	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:1309521G>A	ENST00000338370.3	-	2	757	c.357C>T	c.(355-357)gtC>gtT	p.V119V	AURKAIP1_ENST00000378853.3_Silent_p.V119V|AURKAIP1_ENST00000338338.5_Silent_p.V119V|AURKAIP1_ENST00000321751.5_Silent_p.V119V			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	119					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding			kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCGCATCCGCGACGCCTTCAT	0.612													28	55					0	0	0	0	A	1309521	G	A	1309521	2	1	165	1	0	0	0	0	0	0	0	1	1226	1045	37	1		1	AURKAIP1	1	1309521	Silent	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08		1309521	247941100	1	29591											
CCNL2	81669	broad.mit.edu	37	chr1	1334480	1334480	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggtctctgtgtcggtgtcGaggccgctcgacatggacgg	4	10	16	11	6	1	0	0	0	1	0	6	3	1	1	1	5	0	1	1	5	0	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:1334480G>A	ENST00000400809.3	-	1	212	c.207C>T	c.(205-207)ctC>ctT	p.L69L	CCNL2_ENST00000408918.4_Silent_p.L69L	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	69					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGTCGGTGTCGAGGCCGCTCG	0.677													10	28					0	0	0	0	A	1334480	G	A	1334480	2	1	165	1	0	0	0	0	0	0	0	1	2961	1045	37	1		1	CCNL2	1	1334480	Silent	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	24959	1334480	247916141	2	29592											
AKR7L	246181	broad.mit.edu	37	chr1	19596156	19596156	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgtttccacctgccgggtGgtggcgctgtacatgccctg	3	11	13	14	3	0	0	0	0	0	0	2	0	2	0	5	3	3	3	5	3	1	2	rs6665756	by1000genomes	TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:19596156G>T	ENST00000420396.2	-	0	507				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCTGCCGGGTGGTGGCGCTGT	0.562													4	54					0.00909568	0.00923419	1	0	T	19596156	G	T	19596156	1	4	165	0	1	0	0	0	0	0	0	0	477	1335	47	4		4	AKR7L	1	19596156	RNA	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	18261676	19596156	229654465	3	29593											
TMCO2	127391	broad.mit.edu	37	chr1	40717103	40717103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgggtctgcaagagaaaaTtttgaaaaaacttaagacag	17	10	9	5	0	1	3	0	1	1	2	1	4	1	3	0	1	2	1	0	1	7	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:40717103T>C	ENST00000372766.3	+	2	479	c.386T>C	c.(385-387)aTt>aCt	p.I129T	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	129						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CAAGAGAAAATTTTGAAAAAA	0.413													11	49					0	0	0	0	C	40717103	T	C	40717103	3	2	165	1	0	0	0	0	1	0	0	0	16090	1493	52	5	392	5	TMCO2	1	40717103	Missense_Mutation	SNP	T	TCGA-CQ-A4CD-01A-21D-A25D-08	21120947	40717103	208533518	4	29594											
EPS15	2060	broad.mit.edu	37	chr1	51864782	51864782	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatcagtagattgcctgaaGaaacagtctgatgcaaatgg	14	9	12	6	0	2	4	1	2	1	2	2	5	2	5	1	2	3	2	1	2	4	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:51864782G>C	ENST00000371733.3	-	20	2070	c.1974C>G	c.(1972-1974)ttC>ttG	p.F658L	EPS15_ENST00000396122.4_Missense_Mutation_p.F335L|EPS15_ENST00000371730.2_Missense_Mutation_p.F524L	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	658	15 X 3 AA repeats of D-P-F.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ATTGCCTGAAGAAACAGTCTG	0.373			T	MLL	ALL								18	62					0	0	0	0	C	51864782	G	C	51864782	3	2	165	1	0	0	0	0	1	0	0	0	5230	933	33	2	740	2	EPS15	1	51864782	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	11147679	51864782	197385839	5	29595											
DOCK7	85440	broad.mit.edu	37	chr1	63018486	63018486	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgctattactaaggcttcGagaacgatttaaattaaggc	14	13	8	6	2	0	1	0	0	0	1	1	3	0	1	0	2	3	2	0	2	7	8			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:63018486G>A	ENST00000251157.5	-	22	2716	c.2683C>T	c.(2683-2685)Cga>Tga	p.R895*	DOCK7_ENST00000340370.5_Nonsense_Mutation_p.R895*	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	895					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTAAGGCTTCGAGAACGATTT	0.453													13	36					0	0	0	0	A	63018486	G	A	63018486	4	1	165	1	0	0	0	0	0	1	0	0	4728	1066	37	1	3758	1	DOCK7	1	63018486	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	11153704	63018486	186232135	6	29596											
DEPDC1	55635	broad.mit.edu	37	chr1	68954653	68954653	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcttcctggcttagttctCtattatcaattgcattttct	7	20	4	10	0	4	0	1	0	3	0	6	0	5	0	1	1	1	3	1	1	4	8			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:68954653C>G	ENST00000456315.2	-	4	650	c.536G>C	c.(535-537)aGa>aCa	p.R179T	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R179T	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	179					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GCTTAGTTCTCTATTATCAAT	0.299													11	41					0	0	0	0	G	68954653	C	G	68954653	3	3	165	1	0	0	0	0	1	0	0	0	4476	913	32	2	1935	2	DEPDC1	1	68954653	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	5936167	68954653	180295968	7	29597											
LRRC39	127495	broad.mit.edu	37	chr1	100634004	100634004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggtcttcattgagtttCtttattcttttttcccaaac	7	21	4	9	0	5	1	2	1	3	0	6	1	6	1	1	1	1	1	1	1	2	10			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:100634004C>A	ENST00000370138.1	-	3	267	c.69G>T	c.(67-69)aaG>aaT	p.K23N	LRRC39_ENST00000342895.3_Missense_Mutation_p.K23N|LRRC39_ENST00000370137.1_Missense_Mutation_p.K23N	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	23										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CATTGAGTTTCTTTATTCTTT	0.338													10	32					0.000673444	0.000697869	1	0	A	100634004	C	A	100634004	3	1	165	1	0	0	0	0	1	0	0	0	9059	912	32	2	970	2	LRRC39	1	100634004	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	31679351	100634004	148616617	8	29598											
OLFM3	118427	broad.mit.edu	37	chr1	102296381	102296381	+	Frame_Shift_Del	DEL	A	A	-																															atagactgggacatgttctgAacctgttgaacaagaatatt																										TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:102296381delA	ENST00000370103.4	-	3	432	c.219delT	c.(217-219)gtfs	p.V73fs	OLFM3_ENST00000359814.3_Frame_Shift_Del_p.V93fs|OLFM3_ENST00000338858.5_Frame_Shift_Del_p.V93fs|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	93						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ACATGTTCTGAACCTGTTGAA	0.343													17	65	---	---	---	---					-	102296381	A	-	102296381	7	5	165	1	0	1	0	1	0	0	0	0	10925	233	9	0	1173	0	OLFM3	1	102296381	Frame_Shift_Del	DEL	A	TCGA-CQ-A4CD-01A-21D-A25D-08	1662377	102296381	146954240	9	29599											
HIST2H2BF	440689	broad.mit.edu	37	chr1	149783657	149783657	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcgggacgcctctcccgcGatgcgctcgaagatgtcgtt	6	8	14	13	7	1	1	0	0	1	1	4	4	1	2	2	2	1	2	2	2	1	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:149783657G>A	ENST00000427880.2	-	1	268	c.222C>T	c.(220-222)atC>atT	p.I74I	HIST2H2BF_ENST00000545683.1_Silent_p.I74I|HIST2H2BF_ENST00000369167.1_Silent_p.I74I|HIST2H2BF_ENST00000469483.1_5'UTR			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	74					nucleosome assembly	nucleosome|nucleus	DNA binding	p.I74I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CCTCTCCCGCGATGCGCTCGA	0.642													25	107					0	0	0	0	A	149783657	G	A	149783657	2	1	165	1	0	0	0	0	0	0	0	1	7230	1048	37	1		1	HIST2H2BF	1	149783657	Silent	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	47487276	149783657	99466964	10	29600											
CTSS	1520	broad.mit.edu	37	chr1	150722538	150722538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacaccaacagacactgggCctttattggccacagcttct	10	10	7	14	0	1	1	0	0	1	1	1	1	1	1	3	2	3	1	3	2	3	5			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:150722538C>A	ENST00000368985.3	-	6	997	c.737G>T	c.(736-738)gGc>gTc	p.G246V	CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.G196V	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	246					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGACACTGGGCCTTTATTGGC	0.378													25	34					4.47668e-21	5.02998e-21	1	0	A	150722538	C	A	150722538	3	1	165	1	0	0	0	0	1	0	0	0	4073	739	26	4	270	4	CTSS	1	150722538	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	938881	150722538	98528083	11	29601											
TDRD5	163589	broad.mit.edu	37	chr1	179620113	179620113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttaacatttttttgtgtGacacatcctcaaacgaagat	12	15	5	9	1	1	2	1	1	0	1	3	3	3	2	2	0	2	0	2	0	3	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:179620113G>C	ENST00000444136.1	+	12	2162	c.1912G>C	c.(1912-1914)Gac>Cac	p.D638H	TDRD5_ENST00000367614.1_Missense_Mutation_p.D638H|TDRD5_ENST00000294848.8_Missense_Mutation_p.D638H	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	638					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTTTTGTGTGACACATCCTC	0.413													27	113					0	0	0	0	C	179620113	G	C	179620113	3	2	165	1	0	0	0	0	1	0	0	0	15827	1290	45	2	1954	2	TDRD5	1	179620113	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	28897575	179620113	69630508	12	29602											
C1orf116	79098	broad.mit.edu	37	chr1	207200887	207200887	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgctgtcacagctgccGacacgggtcacgggttctga	8	9	12	12	3	4	1	3	1	1	0	4	2	4	1	1	2	3	3	1	2	0	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:207200887G>T	ENST00000359470.5	-	2	306	c.57C>A	c.(55-57)gtC>gtA	p.V19V	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	19						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CACAGCTGCCGACACGGGTCA	0.622													7	88					0.00621372	0.00634053	1	0	T	207200887	G	T	207200887	2	4	165	1	0	0	0	0	0	0	0	1	2008	1045	37	3		3	C1orf116	1	207200887	Silent	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	27580774	207200887	42049734	13	29603											
CENPF	1063	broad.mit.edu	37	chr1	214791936	214791936	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtaaatctgagcttgaaaGaagccaacaagctgcgcagt	14	8	11	8	1	1	3	0	2	1	1	1	3	1	3	1	0	5	4	1	0	6	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:214791936G>C	ENST00000366955.3	+	4	548	c.380G>C	c.(379-381)aGa>aCa	p.R127T		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	127	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGCTTGAAAGAAGCCAACAA	0.403													44	59					0	0	0	0	C	214791936	G	C	214791936	3	2	165	1	0	0	0	0	1	0	0	0	3260	942	33	2	390	2	CENPF	1	214791936	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	7591049	214791936	34458685	14	29604											
LYST	1130	broad.mit.edu	37	chr1	235922444	235922444	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatagtgctgtggcttcgctGgaaggaggccaatcccttta	9	11	12	9	1	0	0	0	0	0	0	2	2	1	2	2	4	1	3	2	4	5	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:235922444G>A	ENST00000389794.3	-	23	6883	c.6709C>T	c.(6709-6711)Cag>Tag	p.Q2237*	LYST_ENST00000389793.2_Nonsense_Mutation_p.Q2237*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2237					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGGCTTCGCTGGAAGGAGGCC	0.527													37	53					0	0	0	0	A	235922444	G	A	235922444	4	1	165	1	0	0	0	0	0	1	0	0	9193	1357	47	4	4820	4	LYST	1	235922444	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	21130508	235922444	13328177	15	29605											
AFTPH	54812	broad.mit.edu	37	chr2	64780062	64780062	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagaatttggggatataaAtgctgtttcttgccaagagg	11	13	13	4	0	1	2	0	0	1	2	1	4	1	3	1	4	2	2	1	4	5	5			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:64780062A>G	ENST00000422803.1	+	2	1768	c.1454A>G	c.(1453-1455)aAt>aGt	p.N485S	AFTPH_ENST00000409933.1_Missense_Mutation_p.N485S|AFTPH_ENST00000238855.7_Missense_Mutation_p.N485S|AFTPH_ENST00000238856.4_Missense_Mutation_p.N485S|AFTPH_ENST00000409183.1_Missense_Mutation_p.N116S|AFTPH_ENST00000487769.1_3'UTR			Q6ULP2	AFTIN_HUMAN	aftiphilin	485					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GGGGATATAAATGCTGTTTCT	0.363													34	74					0	0	0	0	G	64780062	A	G	64780062	3	3	165	1	0	0	0	0	1	0	0	0	364	101	4	5	1456	5	AFTPH	2	64780062	Missense_Mutation	SNP	A	TCGA-CQ-A4CD-01A-21D-A25D-08		64780062	178419311	16	29606											
LIMS2	55679	broad.mit.edu	37	chr2	128396899	128396899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttgggctgggccttgcggGaggtcagctccgacagcttc	4	9	15	13	2	1	0	1	0	0	0	3	2	2	1	3	4	3	3	3	4	0	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:128396899G>A	ENST00000409455.1	-	10	1603	c.968C>T	c.(967-969)tCc>tTc	p.S323F	LIMS2_ENST00000494613.1_5'UTR|LIMS2_ENST00000409808.2_Missense_Mutation_p.S323F|LIMS2_ENST00000409754.1_Missense_Mutation_p.S176F|LIMS2_ENST00000355119.4_Missense_Mutation_p.S328F|LIMS2_ENST00000410038.1_Missense_Mutation_p.S176F|LIMS2_ENST00000409286.1_Missense_Mutation_p.S176F|LIMS2_ENST00000410011.1_Missense_Mutation_p.S323F|LIMS2_ENST00000324938.5_Missense_Mutation_p.S352F|LIMS2_ENST00000409254.1_Missense_Mutation_p.S176F|LIMS2_ENST00000545738.2_Missense_Mutation_p.S350F			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	328					cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GGCCTTGCGGGAGGTCAGCTC	0.612													28	86					0	0	0	0	A	128396899	G	A	128396899	3	1	165	1	0	0	0	0	1	0	0	0	8858	1174	41	2	46	2	LIMS2	2	128396899	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	63616837	128396899	114802474	17	29607											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135890465	135890465	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttttcctttccttcaagTtcttattccctgatgctgtt	4	23	4	10	0	2	1	1	1	1	0	5	1	5	1	3	0	1	3	3	0	2	9			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:135890465T>C	ENST00000264158.8	+	14	1280	c.1236_splice	c.e14-1	p.F413_splice	RAB3GAP1_ENST00000539493.1_Splice_Site_p.F369_splice|RAB3GAP1_ENST00000442034.1_Splice_Site_p.F413_splice|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	413						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTCCTTCAAGTTCTTATTCCC	0.294													10	26					0	0	0	0	C	135890465	T	C	135890465	5	2	165	1	0	0	0	0	0	0	1	0	13017	1739	60	5	1291	5	RAB3GAP1	2	135890465	Splice_Site	SNP	T	TCGA-CQ-A4CD-01A-21D-A25D-08	7493566	135890465	107308908	18	29608											
ARL5A	26225	broad.mit.edu	37	chr2	152670738	152670738	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagagattcttggccaccaAtatcccacattaggaaacgt	14	9	8	10	1	1	1	0	0	1	1	2	4	2	2	3	2	1	0	3	2	5	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:152670738A>G	ENST00000295087.8	-	3	511	c.200T>C	c.(199-201)aTt>aCt	p.I67T	ARL5A_ENST00000428992.2_Missense_Mutation_p.I30T	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	67					small GTPase mediated signal transduction	intracellular	GTP binding			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		TTGGCCACCAATATCCCACAT	0.338													23	72					0	0	0	0	G	152670738	A	G	152670738	3	3	165	1	0	0	0	0	1	0	0	0	943	101	4	5	355	5	ARL5A	2	152670738	Missense_Mutation	SNP	A	TCGA-CQ-A4CD-01A-21D-A25D-08	16780273	152670738	90528635	19	29609											
ICA1L	130026	broad.mit.edu	37	chr2	203686198	203686198	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctagctcattttcttcctctGatataactaggaaaaaaatt	14	15	4	8	0	3	1	1	1	2	0	4	2	4	2	1	1	2	1	1	1	7	8			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:203686198G>C	ENST00000392237.2	-	5	399	c.242C>G	c.(241-243)tCa>tGa	p.S81*	ICA1L_ENST00000358299.2_Nonsense_Mutation_p.S81*|ICA1L_ENST00000425178.1_Nonsense_Mutation_p.S81*|ICA1L_ENST00000418208.1_Intron	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	81	AH.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCTTCCTCTGATATAACTAG	0.353													15	27					0	0	0	0	C	203686198	G	C	203686198	4	2	165	1	0	0	0	0	0	1	0	0	7531	1294	45	2	1246	2	ICA1L	2	203686198	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	51015460	203686198	39513175	20	29610											
FN1	2335	broad.mit.edu	37	chr2	216272015	216272015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagttctgtgctgctaccttCtactgatggcgaatagacta	9	13	10	9	1	2	2	0	1	2	1	2	4	2	2	1	1	4	3	1	1	5	6			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:216272015C>T	ENST00000354785.4	-	18	2917	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	FN1_ENST00000345488.5_Missense_Mutation_p.E850K|FN1_ENST00000336916.4_Missense_Mutation_p.E850K|FN1_ENST00000323926.6_Missense_Mutation_p.E850K|FN1_ENST00000446046.1_Missense_Mutation_p.E850K|FN1_ENST00000356005.4_Missense_Mutation_p.E850K|FN1_ENST00000443816.1_Missense_Mutation_p.E850K|FN1_ENST00000432072.2_Missense_Mutation_p.E850K|FN1_ENST00000421182.1_Missense_Mutation_p.E850K|FN1_ENST00000359671.1_Missense_Mutation_p.E850K|FN1_ENST00000357867.4_Missense_Mutation_p.E850K|FN1_ENST00000346544.3_Missense_Mutation_p.E850K|FN1_ENST00000357009.2_Missense_Mutation_p.E850K			P02751	FINC_HUMAN	fibronectin 1	850	Fibronectin type-III 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCTACCTTCTACTGATGGC	0.433													22	60					0	0	0	0	T	216272015	C	T	216272015	3	4	165	1	0	0	0	0	1	0	0	0	6007	922	32	2	5001	2	FN1	2	216272015	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	12585817	216272015	26927358	21	29611											
ZNF142	7701	broad.mit.edu	37	chr2	219520928	219520928	+	Silent	SNP	G	G	A																															ccagctactgtctccacaatGatctccatgttccctggtcc																										TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:219520928G>A	ENST00000411696.2	-	3	1004	c.225C>T	c.(223-225)atC>atT	p.I75I	ZNF142_ENST00000449707.1_Silent_p.I75I			P52746	ZN142_HUMAN	zinc finger protein 142	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCTCCACAATGATCTCCATGT	0.592													8	43					0	0	0	0	A	219520928	G	A	219520928	2	1	165	1	0	0	0	0	0	0	0	1	17826	1280	45	2		2	ZNF142	2	219520928	Silent	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	3248913	219520928	23678445	22	29612	226	2									
ZNF142	7701	broad.mit.edu	37	chr2	219520929	219520929	+	Missense_Mutation	SNP	A	A	T																															cagctactgtctccacaatgAtctccatgttccctggtccc																										TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:219520929A>T	ENST00000411696.2	-	3	1003	c.224T>A	c.(223-225)aTc>aAc	p.I75N	ZNF142_ENST00000449707.1_Missense_Mutation_p.I75N			P52746	ZN142_HUMAN	zinc finger protein 142	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTCCACAATGATCTCCATGTT	0.592													8	42					0	0	0	0	T	219520929	A	T	219520929	3	4	165	1	0	0	0	0	1	0	0	0	17826	333	12	5	4867	5	ZNF142	2	219520929	Missense_Mutation	SNP	A	TCGA-CQ-A4CD-01A-21D-A25D-08	1	219520929	23678444	23	29613	226	2									
ABCB6	10058	broad.mit.edu	37	chr2	220078891	220078891	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgttccacttcgtaactctcGgcgttgtaatacttcacctg	7	14	7	13	4	2	0	1	0	1	0	5	0	3	0	2	1	2	4	2	1	3	7	rs144749234		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:220078891G>A	ENST00000265316.3	-	8	1720	c.1404C>T	c.(1402-1404)gcC>gcT	p.A468A	ABCB6_ENST00000439002.2_Silent_p.A422A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	468	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTAACTCTCGGCGTTGTAAT	0.488													15	74					0	0	0	0	A	220078891	G	A	220078891	2	1	165	1	0	0	0	0	0	0	0	1	45	1103	39	1		1	ABCB6	2	220078891	Silent	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	557962	220078891	23120482	24	29614											
COL4A4	1286	broad.mit.edu	37	chr2	227895306	227895318	+	Splice_Site	DEL	CAGGTGCTCCTGA	CAGGTGCTCCTGA	-																															cccagggaggcctggaggccCaggtgctcctgaccacagag																										TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:227895306_227895318delCAGGTGCTCCTGA	ENST00000396625.3	-	41	4025_4033	c.3817_splice	c.e41-1	p.A1273_splice	COL4A4_ENST00000329662.7_Splice_Site_p.A1273_splice	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1273	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTGGAGGCCCAGGTGCTCCTGACCACAGAGAA	0.54													9	31	---	---	---	---					-	227895318	CAGGTGCTCCTGA	-	227895306	8	5	165	1	0	1	0	1	0	0	1	0	3723	594	21	0	1278	0	COL4A4	2	227895306	Splice_Site	DEL	CAGGTGCTCCTGA	TCGA-CQ-A4CD-01A-21D-A25D-08	7816415	227895306	15304067	25	29615											
COL4A4	1286	broad.mit.edu	37	chr2	227963502	227963502	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggccagggaaccctgggTcccctggtgggcctgccaaa	7	5	15	14	1	0	0	0	0	0	0	1	1	1	1	6	5	3	0	6	5	2	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:227963502T>C	ENST00000396625.3	-	19	1319	c.1112A>G	c.(1111-1113)gAc>gGc	p.D371G	COL4A4_ENST00000329662.7_Missense_Mutation_p.D371G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	371	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GAACCCTGGGTCCCCTGGTGG	0.493													6	28					0	0	0	0	C	227963502	T	C	227963502	3	2	165	1	0	0	0	0	1	0	0	0	3723	1667	58	5	4080	5	COL4A4	2	227963502	Missense_Mutation	SNP	T	TCGA-CQ-A4CD-01A-21D-A25D-08	68196	227963502	15235871	26	29616											
GIGYF2	26058	broad.mit.edu	37	chr2	233710512	233710512	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagttgctgaagctctttCagggagtaaataaagcccaa	16	9	9	7	0	2	1	1	1	1	0	2	2	2	2	1	1	3	4	1	1	8	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:233710512C>T	ENST00000373566.3	+	27	3639	c.3442C>T	c.(3442-3444)Cag>Tag	p.Q1148*	GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q1148*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q1126*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q1147*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q1126*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q1120*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1126					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAGCTCTTTCAGGGAGTAAA	0.393													20	40					0	0	0	0	T	233710512	C	T	233710512	4	4	165	1	0	0	0	0	0	1	0	0	6429	827	29	2	3540	2	GIGYF2	2	233710512	Nonsense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	5747010	233710512	9488861	27	29617											
UGT1A4	54657	broad.mit.edu	37	chr2	234628224	234628224	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggatcttgtcagctatgcatCcgtgtggctgttccgagggg	5	12	15	9	2	2	0	1	0	1	0	4	2	4	1	2	4	2	4	2	4	1	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:234628224C>G	ENST00000373409.3	+	1	801	c.758C>G	c.(757-759)tCc>tGc	p.S253C	UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		AGCTATGCATCCGTGTGGCTG	0.522													44	148					0	0	0	0	G	234628224	C	G	234628224	3	3	165	1	0	0	0	0	1	0	0	0	17043	855	30	2	760	2	UGT1A4	2	234628224	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	917712	234628224	8571149	28	29618											
USP4	7375	broad.mit.edu	37	chr3	49316263	49316263	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaccactatctgatcctcaGaggccagggacacgttgcta	10	9	9	13	1	3	2	2	1	1	1	4	3	4	3	3	2	1	2	3	2	2	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:49316263G>C	ENST00000351842.4	-	20	2584	c.2576C>G	c.(2575-2577)tCt>tGt	p.S859C	USP4_ENST00000265560.4_Missense_Mutation_p.S906C	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	906					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CTGATCCTCAGAGGCCAGGGA	0.423													36	50					0	0	0	0	C	49316263	G	C	49316263	3	2	165	1	0	0	0	0	1	0	0	0	17167	942	33	2	182	2	USP4	3	49316263	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08		49316263	148706167	29	29619											
BSN	8927	broad.mit.edu	37	chr3	49690575	49690575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagatgatgcgcaaagctGagctgctccagaggcagcaa	13	5	14	9	1	0	4	0	2	0	2	1	5	1	4	1	2	5	6	1	2	2	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:49690575G>A	ENST00000296452.4	+	5	3700	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1196					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCGCAAAGCTGAGCTGCTCCA	0.677													10	11					0	0	0	0	A	49690575	G	A	49690575	3	1	165	1	0	0	0	0	1	0	0	0	1538	1291	45	2	3604	2	BSN	3	49690575	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	374312	49690575	148331855	30	29620											
BSN	8927	broad.mit.edu	37	chr3	49697990	49697990	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcccccctccagaggaGgctcaccttcccctggctgg	5	6	10	20	0	1	1	1	0	0	1	3	2	3	2	8	4	1	2	8	4	0	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:49697990G>A	ENST00000296452.4	+	6	8826	c.8712G>A	c.(8710-8712)gaG>gaA	p.E2904E		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2904					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCCAGAGGAGGCTCACCTTC	0.677													22	44					0	0	0	0	A	49697990	G	A	49697990	2	1	165	1	0	0	0	0	0	0	0	1	1538	991	35	4		4	BSN	3	49697990	Silent	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	7415	49697990	148324440	31	29621											
SLC15A2	6565	broad.mit.edu	37	chr3	121646627	121646627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttaggaaaatggctgttGgtatgatcctagcatgcctg	10	12	11	8	0	0	1	0	1	0	0	1	2	1	2	2	3	2	4	2	3	5	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:121646627G>A	ENST00000489711.1	+	14	1535	c.1147G>A	c.(1147-1149)Ggt>Agt	p.G383S	SLC15A2_ENST00000295605.2_Missense_Mutation_p.G352S	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	383					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)	AATGGCTGTTGGTATGATCCT	0.383													11	26					0	0	0	0	A	121646627	G	A	121646627	3	1	165	1	0	0	0	0	1	0	0	0	14487	1348	47	4	1201	4	SLC15A2	3	121646627	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	71948637	121646627	76375803	32	29622											
AMOTL2	51421	broad.mit.edu	37	chr3	134089642	134089642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtacaacatgagggtactGaggtgggggtcctcgggact	9	9	16	7	1	0	2	0	2	0	0	2	3	1	3	1	5	3	2	1	5	4	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:134089642G>C	ENST00000514516.1	-	2	986	c.808C>G	c.(808-810)Cag>Gag	p.Q270E	AMOTL2_ENST00000422605.2_Missense_Mutation_p.Q212E|AMOTL2_ENST00000513145.1_Missense_Mutation_p.Q212E|AMOTL2_ENST00000249883.5_Missense_Mutation_p.Q212E|AMOTL2_ENST00000511759.1_Intron	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	212										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TGAGGGTACTGAGGTGGGGGT	0.662													20	57					0	0	0	0	C	134089642	G	C	134089642	3	2	165	1	0	0	0	0	1	0	0	0	584	1299	45	2	1744	2	AMOTL2	3	134089642	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	12443015	134089642	63932788	33	29623											
MSL2	55167	broad.mit.edu	37	chr3	135871452	135871452	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttaactgcttgttttcctCaaactgctcatagtctttgc	7	17	6	11	0	3	0	2	0	1	0	4	0	4	0	1	0	5	4	1	0	3	6			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:135871452C>G	ENST00000309993.2	-	2	1003	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	MSL2_ENST00000434835.2_Missense_Mutation_p.E17Q	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	91					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TTGTTTTCCTCAAACTGCTCA	0.408													37	110					0	0	0	0	G	135871452	C	G	135871452	3	3	165	1	0	0	0	0	1	0	0	0	9948	835	29	2	1466	2	MSL2	3	135871452	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	1781810	135871452	62150978	34	29624											
GPR149	344758	broad.mit.edu	37	chr3	154055808	154055808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccaaggcctcttcattatCacaaatttcaagaacctcca	13	11	4	13	0	4	1	3	0	1	1	6	1	6	1	4	1	1	0	4	1	5	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:154055808C>G	ENST00000389740.2	-	4	1975	c.1876G>C	c.(1876-1878)Gat>Cat	p.D626H		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	626						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCTTCATTATCACAAATTTCA	0.423													21	81					0	0	0	0	G	154055808	C	G	154055808	3	3	165	1	0	0	0	0	1	0	0	0	6703	826	29	2	323	2	GPR149	3	154055808	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	18184356	154055808	43966622	35	29625											
SPATA16	83893	broad.mit.edu	37	chr3	172631518	172631518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggtgtccatagcatctGccattagtgactgcagctgt	9	11	11	10	0	1	1	0	1	1	0	2	1	2	1	2	1	4	3	2	1	3	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:172631518G>T	ENST00000351008.3	-	10	1703	c.1520C>A	c.(1519-1521)gCa>gAa	p.A507E		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	507					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CATAGCATCTGCCATTAGTGA	0.348													5	14					0.184627	0.186492	1	0	T	172631518	G	T	172631518	3	4	165	1	0	0	0	0	1	0	0	0	15091	1319	46	4	197	4	SPATA16	3	172631518	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	18575710	172631518	25390912	36	29626											
C1QTNF7	114905	broad.mit.edu	37	chr4	15437537	15437537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccctgggccccatggtcGcatcggccttccaggaagag	6	8	12	15	2	0	1	0	0	0	1	4	2	2	2	6	4	0	1	6	4	1	2	rs137951137	byFrequency	TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr4:15437537G>A	ENST00000295297.4	+	2	450	c.191G>A	c.(190-192)cGc>cAc	p.R64H	C1QTNF7_ENST00000444304.2_Missense_Mutation_p.R57H|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.R57H	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	57	Collagen-like.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CCCCATGGTCGCATCGGCCTT	0.542													14	30					0	0	0	0	A	15437537	G	A	15437537	3	1	165	1	0	0	0	0	1	0	0	0	1987	1087	38	1	197	1	C1QTNF7	4	15437537	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08		15437537	175716739	37	29627											
QDPR	5860	broad.mit.edu	37	chr4	17493925	17493925	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaggctctggcagagctGgtgaacagcacccttggcca	9	6	13	13	0	1	2	0	1	1	1	1	2	1	2	3	4	4	4	3	4	1	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr4:17493925G>C	ENST00000281243.5	-	5	654	c.475C>G	c.(475-477)Cag>Gag	p.Q159E	QDPR_ENST00000513615.1_Intron|QDPR_ENST00000428702.2_Missense_Mutation_p.Q128E|QDPR_ENST00000508623.1_Intron	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	159					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	TGGCAGAGCTGGTGAACAGCA	0.647													7	13					0	0	0	0	C	17493925	G	C	17493925	3	2	165	1	0	0	0	0	1	0	0	0	12954	1357	47	4	271	4	QDPR	4	17493925	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	2056388	17493925	173660351	38	29628											
MTHFD2L	441024	broad.mit.edu	37	chr4	75065546	75065546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaatatgcaatggaattGccccagaaaaagatgtagat	18	8	9	6	0	0	3	0	0	0	3	0	5	0	4	2	1	3	2	2	1	8	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr4:75065546G>T	ENST00000395759.2	+	4	514	c.487G>T	c.(487-489)Gcc>Tcc	p.A163S	MTHFD2L_ENST00000433372.1_Missense_Mutation_p.A28S|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.A105S|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.A105S	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	105					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			CAATGGAATTGCCCCAGAAAA	0.343													18	50					5.35267e-07	5.72478e-07	1	0	T	75065546	G	T	75065546	3	4	165	1	0	0	0	0	1	0	0	0	10000	1319	46	4	501	4	MTHFD2L	4	75065546	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	57571621	75065546	116088730	39	29629											
KIAA1109	84162	broad.mit.edu	37	chr4	123109097	123109097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagccgcaaactctgtgcatCaactttgatgatgctttctt	9	14	7	11	1	3	2	1	2	2	0	3	2	3	2	1	0	5	3	1	0	2	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr4:123109097C>G	ENST00000264501.4	+	9	1048	c.675C>G	c.(673-675)atC>atG	p.I225M	KIAA1109_ENST00000455637.1_Missense_Mutation_p.I225M|KIAA1109_ENST00000388738.3_Missense_Mutation_p.I225M			Q2LD37	K1109_HUMAN	KIAA1109	225					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTCTGTGCATCAACTTTGATG	0.358													12	33					0	0	0	0	G	123109097	C	G	123109097	3	3	165	1	0	0	0	0	1	0	0	0	8259	816	29	2	701	2	KIAA1109	4	123109097	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	48043551	123109097	68045179	40	29630											
FAT1	2195	broad.mit.edu	37	chr4	187628651	187628652	+	Frame_Shift_Ins	INS	-	-	A																															tttcacggtcaagaggagatINSaaaattttcagcattcctgt																										TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr4:187628651_187628652insA	ENST00000441802.2	-	2	2539_2540	c.2330_2331insT	c.(2329-2331)ttcfs	p.F777fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	777	Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAAGAGGAGATAAAATTTTCAG	0.436										HNSCC(5;0.00058)			31	72	---	---	---	---					A	187628652	-	A	187628651	7	5	165	1	0	1	1	0	0	0	0	0	5734	1403	49	0	11539	0	FAT1	4	187628651	Frame_Shift_Ins	INS	-	TCGA-CQ-A4CD-01A-21D-A25D-08	64519554	187628651	3525625	41	29631											
CDH18	1016	broad.mit.edu	37	chr5	19571872	19571872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggacccaagtgagaaaagcGaaaatcaagatgtgtatttg	17	8	11	5	1	1	2	1	1	0	2	1	5	1	3	1	1	1	1	1	1	7	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr5:19571872G>A	ENST00000507958.1	-	10	2059	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C	CDH18_ENST00000511273.1_Missense_Mutation_p.R357C|CDH18_ENST00000274170.4_Missense_Mutation_p.R357C|CDH18_ENST00000502796.1_Missense_Mutation_p.R357C|CDH18_ENST00000506372.1_Missense_Mutation_p.R357C|CDH18_ENST00000382275.1_Missense_Mutation_p.R357C			Q13634	CAD18_HUMAN	cadherin 18, type 2	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R357C(1)		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)					TGAGAAAAGCGAAAATCAAGA	0.378													15	59					0	0	0	0	A	19571872	G	A	19571872	3	1	165	1	0	0	0	0	1	0	0	0	3132	1058	37	1	1327	1	CDH18	5	19571872	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08		19571872	161343388	42	29632											
CDH9	1007	broad.mit.edu	37	chr5	26903762	26903762	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacctgtttgacagttataAtcccttcctgtgtatccttg	9	16	6	10	0	0	1	0	1	0	0	3	1	3	1	4	0	1	3	4	0	4	6			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr5:26903762A>T	ENST00000231021.4	-	6	1155	c.983T>A	c.(982-984)aTt>aAt	p.I328N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	328	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GACAGTTATAATCCCTTCCTG	0.403													63	117					0	0	0	0	T	26903762	A	T	26903762	3	4	165	1	0	0	0	0	1	0	0	0	3146	101	4	5	1414	5	CDH9	5	26903762	Missense_Mutation	SNP	A	TCGA-CQ-A4CD-01A-21D-A25D-08	7331890	26903762	154011498	43	29633											
BRD8	10902	broad.mit.edu	37	chr5	137497527	137497527	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtgctatgtcatctgtaAcaggctgcaggaagacattg	11	10	12	8	0	2	1	1	0	1	1	2	2	2	2	0	3	3	4	0	3	3	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr5:137497527A>C	ENST00000254900.5	-	17	2578	c.2207T>G	c.(2206-2208)gTt>gGt	p.V736G	BRD8_ENST00000402931.1_Missense_Mutation_p.V736G|BRD8_ENST00000411594.2_Missense_Mutation_p.V739G|BRD8_ENST00000230901.5_Missense_Mutation_p.V809G|BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000455658.2_Missense_Mutation_p.V695G	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	736	Bromo 1.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTCATCTGTAACAGGCTGCAG	0.458													8	36					0	0	0	0	C	137497527	A	C	137497527	3	2	165	1	0	0	0	0	1	0	0	0	1514	43	2	5	1608	5	BRD8	5	137497527	Missense_Mutation	SNP	A	TCGA-CQ-A4CD-01A-21D-A25D-08	110593765	137497527	43417733	44	29634											
LARS	51520	broad.mit.edu	37	chr5	145529194	145529194	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatcacatacagcgtcaatCatctttttctgaatagtctt	11	16	4	10	1	6	1	3	1	3	0	6	1	6	1	0	0	2	0	0	0	5	6			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr5:145529194C>G	ENST00000394434.2	-	15	1660	c.1494G>C	c.(1492-1494)atG>atC	p.M498I	LARS_ENST00000510191.1_Missense_Mutation_p.M444I|LARS_ENST00000274562.9_Missense_Mutation_p.M471I|LARS_ENST00000545646.1_Missense_Mutation_p.M452I	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	498	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAGCGTCAATCATCTTTTTCT	0.383													16	72					0	0	0	0	G	145529194	C	G	145529194	3	3	165	1	0	0	0	0	1	0	0	0	8687	826	29	2	2108	2	LARS	5	145529194	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	8031667	145529194	35386066	45	29635											
FARS2	10667	broad.mit.edu	37	chr6	5771587	5771587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggaacggactctgtcccaGagagaggtcaggcacatcca	12	6	12	11	1	2	2	1	0	1	2	4	5	4	4	2	4	1	1	2	4	1	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:5771587G>C	ENST00000324331.6	+	7	1617	c.1281G>C	c.(1279-1281)caG>caC	p.Q427H	FARS2_ENST00000274680.4_Missense_Mutation_p.Q427H			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	427	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CTCTGTCCCAGAGAGAGGTCA	0.592													12	28					0	0	0	0	C	5771587	G	C	5771587	3	2	165	1	0	0	0	0	1	0	0	0	5723	933	33	2	1303	2	FARS2	6	5771587	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08		5771587	165343480	46	29636											
F13A1	2162	broad.mit.edu	37	chr6	6225053	6225053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cataggcatagatattgtccCaggatccaacgaggacacct	13	8	9	11	1	0	1	0	0	0	1	2	4	2	3	3	3	1	1	3	3	4	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:6225053C>A	ENST00000264870.3	-	7	1104	c.839G>T	c.(838-840)tGg>tTg	p.W280L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	280					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)	GATATTGTCCCAGGATCCAAC	0.498													19	51					1.15919e-05	1.22665e-05	1	0	A	6225053	C	A	6225053	3	1	165	1	0	0	0	0	1	0	0	0	5378	595	21	4	1395	4	F13A1	6	6225053	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	453466	6225053	164890014	47	29637											
PTK7	5754	broad.mit.edu	37	chr6	43096998	43096998	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaacgcctccttcaacatCaaatgtgagagccagggggg	11	6	12	12	1	2	1	2	1	0	1	3	2	3	1	4	3	3	0	4	3	3	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:43096998C>T	ENST00000230419.4	+	2	584	c.363C>T	c.(361-363)atC>atT	p.I121I	PTK7_ENST00000481273.1_Silent_p.I129I|PTK7_ENST00000349241.2_Silent_p.I121I|PTK7_ENST00000345201.2_Silent_p.I121I|PTK7_ENST00000476760.1_Silent_p.I121I|PTK7_ENST00000471863.1_Silent_p.I121I|PTK7_ENST00000352931.2_Silent_p.I121I	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	121					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCTTCAACATCAAATGTGAGA	0.602													7	29					0	0	0	0	T	43096998	C	T	43096998	2	4	165	1	0	0	0	0	0	0	0	1	12845	816	29	2		2	PTK7	6	43096998	Silent	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	36871945	43096998	128018069	48	29638											
GRIK2	2898	broad.mit.edu	37	chr6	102074444	102074444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacttctcttcactcagccGtgccattttagacctggtgc	7	13	8	13	1	3	2	2	0	1	2	4	2	3	2	3	1	3	0	3	1	1	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:102074444G>A	ENST00000369138.1	+	3	963	c.473G>A	c.(472-474)cGt>cAt	p.R158H	GRIK2_ENST00000421544.1_Missense_Mutation_p.R158H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R158H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R158H|GRIK2_ENST00000358361.3_Missense_Mutation_p.R158H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R109H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R158H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	158					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R158H(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TCACTCAGCCGTGCCATTTTA	0.473													11	41					0	0	0	0	A	102074444	G	A	102074444	3	1	165	1	0	0	0	0	1	0	0	0	6824	1145	40	1	483	1	GRIK2	6	102074444	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	58977446	102074444	69040623	49	29639											
FYN	2534	broad.mit.edu	37	chr6	112021406	112021406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggttttgacagacagatCggtaagccttggcatccctt	8	14	10	9	1	0	3	0	1	0	2	2	3	1	3	2	3	1	3	2	3	1	6			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:112021406C>T	ENST00000354650.3	-	9	1369	c.763G>A	c.(763-765)Gat>Aat	p.D255N	FYN_ENST00000368678.4_Intron|FYN_ENST00000356013.2_Intron|FYN_ENST00000538466.1_Intron|FYN_ENST00000368667.2_Missense_Mutation_p.D255N|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000229470.5_Intron|FYN_ENST00000229471.4_Intron|FYN_ENST00000368682.3_Intron	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	255					axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	ACAGACAGATCGGTAAGCCTT	0.542													24	68					0	0	0	0	T	112021406	C	T	112021406	3	4	165	1	0	0	0	0	1	0	0	0	6174	884	31	1	1034	1	FYN	6	112021406	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	9946962	112021406	59093661	50	29640											
ROS1	6098	broad.mit.edu	37	chr6	117681103	117681103	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaaacgtccacacaacttGattttgatccatatctaaaa	16	12	4	9	1	1	3	0	3	1	0	3	3	3	3	2	0	2	0	2	0	6	5			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:117681103G>C	ENST00000368508.3	-	23	3715	c.3517C>G	c.(3517-3519)Caa>Gaa	p.Q1173E	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.Q1168E	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1173					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CACACAACTTGATTTTGATCC	0.363			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								13	54					0	0	0	0	C	117681103	G	C	117681103	3	2	165	1	0	0	0	0	1	0	0	0	13616	1299	45	2	3610	2	ROS1	6	117681103	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	5659697	117681103	53433964	51	29641											
PTPRK	5796	broad.mit.edu	37	chr6	128385918	128385918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaccttttgtagcaatgcGtacgcactgggttttagttt	7	17	9	8	2	0	0	0	0	0	0	0	0	0	0	1	1	4	6	1	1	5	8			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:128385918G>A	ENST00000368227.3	-	13	2545	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	PTPRK_ENST00000368226.4_Missense_Mutation_p.R727C|PTPRK_ENST00000368215.3_Missense_Mutation_p.R727C|PTPRK_ENST00000532331.1_Missense_Mutation_p.R727C|PTPRK_ENST00000368213.5_Missense_Mutation_p.R727C|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.R727C|PTPRK_ENST00000368207.3_Missense_Mutation_p.R727C			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	727					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GTAGCAATGCGTACGCACTGG	0.343													6	25					0	0	0	0	A	128385918	G	A	128385918	3	1	165	1	0	0	0	0	1	0	0	0	12887	1145	40	1	2237	1	PTPRK	6	128385918	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	10704815	128385918	42729149	52	29642											
FUCA2	2519	broad.mit.edu	37	chr6	143816918	143816918	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggttagctgtggcagttCtaccataatgccattttgct	9	15	9	8	0	1	0	0	0	1	0	1	0	1	0	2	2	4	5	2	2	4	6			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:143816918C>A	ENST00000002165.5	-	7	1385	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*	RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	444					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		TGTGGCAGTTCTACCATAATG	0.453													12	30					5.50884e-06	5.86046e-06	1	0	A	143816918	C	A	143816918	4	1	165	1	0	0	0	0	0	1	0	0	6143	922	32	2	77	2	FUCA2	6	143816918	Nonsense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	15431000	143816918	27298149	53	29643											
SASH1	23328	broad.mit.edu	37	chr6	148869524	148869524	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctcatttccatcggtctgCccatgtacgccggcaccctc	5	10	9	17	3	2	0	1	0	1	0	5	0	3	0	4	3	2	3	4	3	1	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:148869524C>G	ENST00000367467.3	+	20	4049	c.3574C>G	c.(3574-3576)Ccc>Gcc	p.P1192A		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1192	SAM 2.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CATCGGTCTGCCCATGTACGC	0.572													22	54					0	0	0	0	G	148869524	C	G	148869524	3	3	165	1	0	0	0	0	1	0	0	0	13934	739	26	4	3652	4	SASH1	6	148869524	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	5052606	148869524	22245543	54	29644											
CCDC129	223075	broad.mit.edu	37	chr7	31617900	31617900	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcagtggccttgctcatCtatgccggccaagcaggctc	8	8	11	14	1	2	0	1	0	1	0	3	0	2	0	3	3	4	4	3	3	3	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr7:31617900C>A	ENST00000409210.1	+	6	930	c.746C>A	c.(745-747)tCt>tAt	p.S249Y	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.S341Y|CCDC129_ENST00000451887.2_Missense_Mutation_p.S367Y			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	341										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCTTGCTCATCTATGCCGGCC	0.498													4	23					1	1	1	0	A	31617900	C	A	31617900	3	1	165	1	0	0	0	0	1	0	0	0	2789	913	32	2	1048	2	CCDC129	7	31617900	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08		31617900	127520763	55	29645											
C7orf25	79020	broad.mit.edu	37	chr7	42949829	42949829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtatattttctcggtcaactCtggtcacctgcaaaagttca	10	14	7	10	1	5	0	3	0	2	0	6	0	5	0	1	2	2	3	1	2	5	5			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr7:42949829C>G	ENST00000350427.4	-	2	946	c.671G>C	c.(670-672)aGa>aCa	p.R224T	C7orf25_ENST00000447342.1_Missense_Mutation_p.R224T|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.R224T|C7orf25_ENST00000431882.2_Missense_Mutation_p.R282T			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	224										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TCGGTCAACTCTGGTCACCTG	0.423													27	52					0	0	0	0	G	42949829	C	G	42949829	3	3	165	1	0	0	0	0	1	0	0	0	2403	913	32	2	598	2	C7orf25	7	42949829	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	11331929	42949829	116188834	56	29646											
STAG3	10734	broad.mit.edu	37	chr7	99799430	99799430	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatcctgccagccttgactCttgtctatttttccattctc	5	19	4	13	0	3	1	0	1	3	0	6	1	5	1	4	0	2	0	4	0	2	7			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr7:99799430C>G	ENST00000426455.1	+	22	2649	c.2242C>G	c.(2242-2244)Ctt>Gtt	p.L748V	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.L748V|STAG3_ENST00000394018.2_Missense_Mutation_p.L690V|GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA			Q9UJ98	STAG3_HUMAN	stromal antigen 3	748					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCCTTGACTCTTGTCTATTT	0.448													21	88					0	0	0	0	G	99799430	C	G	99799430	3	3	165	1	0	0	0	0	1	0	0	0	15334	913	32	2	2324	2	STAG3	7	99799430	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	56849601	99799430	59339233	57	29647											
PXDNL	137902	broad.mit.edu	37	chr8	52370181	52370181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggatcatgagtgtgccatCatcaaacacattaagtcgag	13	10	9	9	2	3	1	3	1	0	0	5	3	3	2	1	1	2	0	1	1	2	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:52370181C>T	ENST00000356297.4	-	9	959	c.859G>A	c.(859-861)Gat>Aat	p.D287N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D287N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	287	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGTGTGCCATCATCAAACACA	0.413													23	71					0	0	0	0	T	52370181	C	T	52370181	3	4	165	1	0	0	0	0	1	0	0	0	12930	826	29	2	3592	2	PXDNL	8	52370181	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08		52370181	93993841	58	29648											
RB1CC1	9821	broad.mit.edu	37	chr8	53569561	53569561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttaatttcacaattttgaGagtgcattatattttccatc	11	19	4	7	0	1	1	1	1	0	1	3	2	2	1	1	0	1	1	1	0	4	9			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:53569561G>A	ENST00000025008.5	-	15	3351	c.2828C>T	c.(2827-2829)tCt>tTt	p.S943F	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.S943F|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S943F	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	943					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACAATTTTGAGAGTGCATTAT	0.323													11	41					0	0	0	0	A	53569561	G	A	53569561	3	1	165	1	0	0	0	0	1	0	0	0	13181	942	33	2	1996	2	RB1CC1	8	53569561	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	1199380	53569561	92794461	59	29649											
SULF1	23213	broad.mit.edu	37	chr8	70476248	70476248	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctggttttggctgtccTgggcacagaattgctgggaa	6	13	14	8	0	1	1	0	0	1	1	2	2	2	2	1	4	2	5	1	4	2	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:70476248T>G	ENST00000260128.4	+	5	755	c.38T>G	c.(37-39)cTg>cGg	p.L13R	SULF1_ENST00000419716.3_Missense_Mutation_p.L13R|SULF1_ENST00000458141.2_Missense_Mutation_p.L13R|SULF1_ENST00000402687.4_Missense_Mutation_p.L13R	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	13					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTGGCTGTCCTGGGCACAGAA	0.468													20	34					0	0	0	0	G	70476248	T	G	70476248	3	3	165	1	0	0	0	0	1	0	0	0	15460	1580	55	5	40	5	SULF1	8	70476248	Missense_Mutation	SNP	T	TCGA-CQ-A4CD-01A-21D-A25D-08	16906687	70476248	75887774	60	29650											
CA3	761	broad.mit.edu	37	chr8	86352120	86352120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgccgagttgtatttgatGatacttatgataggtcaagt	10	15	10	6	1	1	3	1	3	0	0	1	4	1	3	2	1	2	2	2	1	5	6			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:86352120G>C	ENST00000285381.2	+	2	297	c.214G>C	c.(214-216)Gat>Cat	p.D72H		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	72					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTATTTGATGATACTTATGA	0.428													10	46					0	0	0	0	C	86352120	G	C	86352120	3	2	165	1	0	0	0	0	1	0	0	0	2542	1290	45	2	220	2	CA3	8	86352120	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	15875872	86352120	60011902	61	29651											
VPS13B	157680	broad.mit.edu	37	chr8	100127959	100127959	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggaaagtttgaaactttCtatcacagatcaacaactgc	15	11	7	8	0	3	2	2	1	1	1	3	3	3	3	0	1	4	1	0	1	5	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:100127959C>G	ENST00000395996.1	+	7	905	c.794C>G	c.(793-795)tCt>tGt	p.S265C	VPS13B_ENST00000357162.2_Missense_Mutation_p.S265C|VPS13B_ENST00000441350.2_Missense_Mutation_p.S265C|VPS13B_ENST00000358544.2_Missense_Mutation_p.S265C|VPS13B_ENST00000355155.1_Missense_Mutation_p.S265C			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	265					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGAAACTTTCTATCACAGAT	0.303													15	70					0	0	0	0	G	100127959	C	G	100127959	3	3	165	1	0	0	0	0	1	0	0	0	17286	913	32	2	816	2	VPS13B	8	100127959	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	13775839	100127959	46236063	62	29652											
RGS22	26166	broad.mit.edu	37	chr8	101075915	101075915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttaaaaaattcttgccatGaatagactcaaaacaatcat	19	11	3	8	0	3	2	2	1	1	1	3	2	3	2	1	0	2	0	1	0	8	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:101075915G>A	ENST00000360863.6	-	8	1275	c.1081C>T	c.(1081-1083)Cat>Tat	p.H361Y	RGS22_ENST00000523437.1_Missense_Mutation_p.H349Y|RGS22_ENST00000523287.1_Missense_Mutation_p.H180Y	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	361					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTCTTGCCATGAATAGACTCA	0.343													16	59					0	0	0	0	A	101075915	G	A	101075915	3	1	165	1	0	0	0	0	1	0	0	0	13388	1290	45	2	2793	2	RGS22	8	101075915	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	947956	101075915	45288107	63	29653											
FZD6	8323	broad.mit.edu	37	chr8	104337688	104337688	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagataacttgggtctctGatcattgtcgtcagtaccat	9	13	11	8	1	3	2	2	1	1	1	5	3	3	2	1	2	2	1	1	2	2	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:104337688G>C	ENST00000358755.4	+	4	1671	c.1354G>C	c.(1354-1356)Gat>Cat	p.D452H	FZD6_ENST00000523739.1_Missense_Mutation_p.D420H|FZD6_ENST00000540287.1_Missense_Mutation_p.D147H|FZD6_ENST00000522566.1_Missense_Mutation_p.D452H	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	452					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTGGGTCTCTGATCATTGTCG	0.398													32	169					0	0	0	0	C	104337688	G	C	104337688	3	2	165	1	0	0	0	0	1	0	0	0	6182	1290	45	2	1364	2	FZD6	8	104337688	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	3261773	104337688	42026334	64	29654											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457400	110457400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctgtaaaagttcttattGaaggagaaggtttggggact	12	13	13	3	0	2	2	0	1	2	1	2	5	2	3	0	4	0	3	0	4	5	5			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:110457400G>A	ENST00000378402.5	+	38	5406	c.5302G>A	c.(5302-5304)Gaa>Aaa	p.E1768K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1768	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTTCTTATTGAAGGAGAAGG	0.403										HNSCC(38;0.096)			16	75					0	0	0	0	A	110457400	G	A	110457400	3	1	165	1	0	0	0	0	1	0	0	0	12044	1291	45	2	5452	2	PKHD1L1	8	110457400	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	6119712	110457400	35906622	65	29655											
ZNF572	137209	broad.mit.edu	37	chr8	125988597	125988597	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttattcttgcaggagatacAagtatgaataatttggaaac	15	14	8	4	0	1	2	0	1	1	1	1	4	1	3	0	2	3	2	0	2	7	8			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:125988597A>T	ENST00000319286.5	+	3	241	c.87A>T	c.(85-87)acA>acT	p.T29T		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAGGAGATACAAGTATGAATA	0.328										HNSCC(60;0.17)			11	70					0	0	0	0	T	125988597	A	T	125988597	2	4	165	1	0	0	0	0	0	0	0	1	18099	117	5	5		5	ZNF572	8	125988597	Silent	SNP	A	TCGA-CQ-A4CD-01A-21D-A25D-08	15531197	125988597	20375425	66	29656											
COL22A1	169044	broad.mit.edu	37	chr8	139788219	139788219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctataaataccttttctcctCgagttcccttttcacctcgt	7	17	3	14	2	2	0	1	0	1	0	6	1	3	0	4	0	1	1	4	0	4	8			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:139788219C>T	ENST00000303045.6	-	16	2239	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.R598Q	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	598	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCTCCTCGAGTTCCCTT	0.493										HNSCC(7;0.00092)			19	73					0	0	0	0	T	139788219	C	T	139788219	3	4	165	1	0	0	0	0	1	0	0	0	3711	884	31	1	3287	1	COL22A1	8	139788219	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	13799622	139788219	6575803	67	29657											
GML	2765	broad.mit.edu	37	chr8	143921918	143921918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccagtgccaccatgcGcgctcagtgtaagtatcatt	9	9	11	12	2	2	0	2	0	0	0	2	0	2	0	3	1	3	4	3	1	2	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:143921918G>A	ENST00000220940.1	+	2	155	c.65G>A	c.(64-66)cGc>cAc	p.R22H		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	22					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCCACCATGCGCGCTCAGTGT	0.577													34	51					0	0	0	0	A	143921918	G	A	143921918	3	1	165	1	0	0	0	0	1	0	0	0	6543	1087	38	1	67	1	GML	8	143921918	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	4133699	143921918	2442104	68	29658											
ZFP41	286128	broad.mit.edu	37	chr8	144332588	144332588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatccgccatcagaaacGccaccctcggaagaagccct	11	6	7	17	3	2	2	2	0	1	2	5	3	3	3	5	1	2	0	5	1	3	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:144332588G>A	ENST00000330701.4	+	2	944	c.575G>A	c.(574-576)cGc>cAc	p.R192H	ZFP41_ENST00000522452.1_Missense_Mutation_p.R192H|ZFP41_ENST00000520584.1_Missense_Mutation_p.R192H	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	192					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CATCAGAAACGCCACCCTCGG	0.647													40	114					0	0	0	0	A	144332588	G	A	144332588	3	1	165	1	0	0	0	0	1	0	0	0	17744	1087	38	1	577	1	ZFP41	8	144332588	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	410670	144332588	2031434	69	29659											
MPDZ	8777	broad.mit.edu	37	chr9	13121779	13121779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctaggccttttcccggcttCttctgcagctcaatagtgag	6	13	9	13	1	3	1	1	1	2	0	4	1	4	1	3	2	2	3	3	2	3	6			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:13121779C>G	ENST00000319217.7	-	38	5437	c.5190G>C	c.(5188-5190)aaG>aaC	p.K1730N	MPDZ_ENST00000536827.1_Missense_Mutation_p.K1697N|MPDZ_ENST00000541718.1_Missense_Mutation_p.K1730N|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000538841.1_Missense_Mutation_p.K589N|MPDZ_ENST00000381022.2_Missense_Mutation_p.K1730N|MPDZ_ENST00000381015.4_Missense_Mutation_p.K1730N|MPDZ_ENST00000546205.1_Missense_Mutation_p.K1744N|MPDZ_ENST00000447879.1_Missense_Mutation_p.K1697N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1730	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTCCCGGCTTCTTCTGCAGCT	0.478													11	52					0	0	0	0	G	13121779	C	G	13121779	3	3	165	1	0	0	0	0	1	0	0	0	9792	912	32	2	971	2	MPDZ	9	13121779	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08		13121779	128091652	70	29660											
CDKN2A	1029	broad.mit.edu	37	chr9	21971153	21971153	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggtcggcgcagttgggctCcgcgccgtggagcagcagca	5	5	19	12	5	0	0	0	0	0	0	2	1	1	1	2	5	3	6	2	5	0	1	rs121913383		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:21971153C>A	ENST00000304494.5	-	2	475	c.205G>T	c.(205-207)Gag>Tag	p.E69*	CDKN2A_ENST00000361570.3_Missense_Mutation_p.G124V|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G83V|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G83V|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	69			E -> G (found in some patients with melanoma; partial loss of CDK4 binding).|E -> K (in a bladder tumor).|E -> V (in a lung tumor).|Missing (in melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E69*(16)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E69K(1)|p.E61_L94del(1)|p.0(1)|p.E69fs*77(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)|p.L64_E69>Q(1)|p.E69Q(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGTTGGGCTCCGCGCCGTGG	0.711	E69*(A375_SKIN)|E69*(CAL27_UPPER_AERODIGESTIVE_TRACT)|E69*(NCIH1975_LUNG)|E69*(SUIT2_PANCREAS)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	6					0.000602214	0.000627307	1	0	A	21971153	C	A	21971153	4	1	165	1	0	0	0	0	0	1	0	0	3190	864	30	2	273	2	CDKN2A	9	21971153	Nonsense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	8849374	21971153	119242278	71	29661											
C9orf131	138724	broad.mit.edu	37	chr9	35042305	35042305	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagggggatatggggcttctCtggggccaactgacccatgc	8	8	15	10	0	1	1	0	1	1	0	2	2	1	2	2	6	2	1	2	6	3	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:35042305C>G	ENST00000312292.5	+	1	101	c.54C>G	c.(52-54)ctC>ctG	p.L18L	C9orf131_ENST00000421362.2_Intron|C9orf131_ENST00000354479.5_Intron	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	18										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGGGGCTTCTCTGGGGCCAAC	0.552													5	42					0	0	0	0	G	35042305	C	G	35042305	2	3	165	1	0	0	0	0	0	0	0	1	2482	900	32	2		2	C9orf131	9	35042305	Silent	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	13071152	35042305	106171126	72	29662											
PIGO	84720	broad.mit.edu	37	chr9	35092632	35092632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagtcggcagtgtcgcctCagcccccttggggctctgga	5	8	13	15	2	2	0	1	0	1	0	4	1	2	1	3	4	1	2	3	4	0	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:35092632C>G	ENST00000378617.3	-	7	1646	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	PIGO_ENST00000361778.2_Missense_Mutation_p.E418Q|PIGO_ENST00000341666.3_Missense_Mutation_p.E418Q|PIGO_ENST00000298004.5_Missense_Mutation_p.E418Q	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	418					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTGTCGCCTCAGCCCCCTTG	0.587													21	63					0	0	0	0	G	35092632	C	G	35092632	3	3	165	1	0	0	0	0	1	0	0	0	11966	835	29	2	2037	2	PIGO	9	35092632	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	50327	35092632	106120799	73	29663											
UNC13B	10497	broad.mit.edu	37	chr9	35398240	35398240	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaacaacgtgcagcaactGagggtccagctggagaaaat	15	6	12	8	1	0	3	0	2	0	1	1	4	1	3	1	2	6	3	1	2	5	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:35398240G>A	ENST00000378495.3	+	30	3762	c.3540G>A	c.(3538-3540)ctG>ctA	p.L1180L	UNC13B_ENST00000396787.1_Silent_p.L1192L|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Silent_p.L1180L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1180					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGCAGCAACTGAGGGTCCAGC	0.512													9	22					0	0	0	0	A	35398240	G	A	35398240	2	1	165	1	0	0	0	0	0	0	0	1	17081	1277	45	2		2	UNC13B	9	35398240	Silent	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	305608	35398240	105815191	74	29664											
PIP5K1B	8395	broad.mit.edu	37	chr9	71491598	71491598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atattttgacttcagcgaagGgagcaatctgaccccagcac	12	9	9	11	1	2	2	1	2	1	0	2	4	2	3	2	1	3	2	2	1	3	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:71491598G>T	ENST00000265382.3	+	6	511	c.206G>T	c.(205-207)gGg>gTg	p.G69V	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.G69V	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	69	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TTCAGCGAAGGGAGCAATCTG	0.398													20	48					8.28177e-16	9.20197e-16	1	0	T	71491598	G	T	71491598	3	4	165	1	0	0	0	0	1	0	0	0	12012	1232	43	4	216	4	PIP5K1B	9	71491598	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	36093358	71491598	69721833	75	29665											
SMC5	23137	broad.mit.edu	37	chr9	72913017	72913017	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaaaactgcgagaatcttCagccccagattgatgccatt	12	9	9	11	2	2	3	1	1	1	2	2	5	2	4	3	1	4	0	3	1	3	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:72913017C>G	ENST00000361138.5	+	9	1247	c.1189C>G	c.(1189-1191)Cag>Gag	p.Q397E		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	397					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CGAGAATCTTCAGCCCCAGAT	0.413													19	88					0	0	0	0	G	72913017	C	G	72913017	3	3	165	1	0	0	0	0	1	0	0	0	14874	827	29	2	1223	2	SMC5	9	72913017	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	1421419	72913017	68300414	76	29666											
SPTLC1	10558	broad.mit.edu	37	chr9	94830314	94830314	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatggtggcaaatccatatGagtatataatggcttcttct	11	15	8	7	0	2	1	0	1	2	0	3	1	3	1	1	3	0	3	1	3	6	7			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:94830314G>C	ENST00000262554.2	-	6	499	c.494C>G	c.(493-495)tCa>tGa	p.S165*	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	165						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAATCCATATGAGTATATAAT	0.348													10	60					0	0	0	0	C	94830314	G	C	94830314	4	2	165	1	0	0	0	0	0	1	0	0	15213	1294	45	2	967	2	SPTLC1	9	94830314	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	21917297	94830314	46383117	77	29667											
TRIM14	9830	broad.mit.edu	37	chr9	100857233	100857233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaagctcttgacgggctCaaaggagaggggcacgggat	13	5	16	7	2	2	3	1	1	1	2	2	5	2	4	0	5	1	3	0	5	3	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:100857233C>T	ENST00000341469.2	-	4	625	c.616G>A	c.(616-618)Gag>Aag	p.E206K	TRIM14_ENST00000375098.3_Missense_Mutation_p.E206K|TRIM14_ENST00000342043.3_Missense_Mutation_p.E206K	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	206						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				TTGACGGGCTCAAAGGAGAGG	0.587													42	47					0	0	0	0	T	100857233	C	T	100857233	3	4	165	1	0	0	0	0	1	0	0	0	16584	835	29	2	724	2	TRIM14	9	100857233	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	6026919	100857233	40356198	78	29668											
SH2D3C	10044	broad.mit.edu	37	chr9	130536747	130536747	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccttgaacttgaagaactCtagcagaggggaagggaagg	13	6	15	7	0	1	4	0	2	1	2	1	6	1	6	1	4	3	1	1	4	6	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:130536747C>G	ENST00000314830.8	-	2	151		c.e2-1			NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C						JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGAAGAACTCTAGCAGAGGG	0.478													6	40					0	0	0	0	G	130536747	C	G	130536747	5	3	165	1	0	0	0	0	0	0	1	0	14321	927	32	2	2722	2	SH2D3C	9	130536747	Splice_Site	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	29679514	130536747	10676684	79	29669											
SLC25A25	114789	broad.mit.edu	37	chr9	130854238	130854238	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggacgatcgtgaagtcaGaggcaccccagcccctgcct	8	5	14	14	2	1	2	1	1	0	1	2	4	1	3	5	3	2	1	5	3	1	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:130854238G>C	ENST00000373066.5	+	1	496	c.89G>C	c.(88-90)aGa>aCa	p.R30T	SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000432073.2_Missense_Mutation_p.R30T|RP11-379C10.4_ENST00000453870.1_RNA	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	0					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						CGTGAAGTCAGAGGCACCCCA	0.582													27	161					0	0	0	0	C	130854238	G	C	130854238	3	2	165	1	0	0	0	0	1	0	0	0	14576	942	33	2	356	2	SLC25A25	9	130854238	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	317491	130854238	10359193	80	29670											
TRDMT1	1787	broad.mit.edu	37	chr10	17199512	17199512	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcatatcgcagcaatGactttggtggtaaaagatac	15	9	11	6	1	0	3	0	1	0	2	1	4	0	3	0	2	3	4	0	2	6	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:17199512G>T	ENST00000377799.3	-	8	862	c.815C>A	c.(814-816)tCa>tAa	p.S272*	TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000488990.1_Nonsense_Mutation_p.S149*|TRDMT1_ENST00000412821.3_Nonsense_Mutation_p.S248*|TRDMT1_ENST00000457442.2_Nonsense_Mutation_p.S191*|TRDMT1_ENST00000351358.4_Nonsense_Mutation_p.S226*	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	272					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						TCGCAGCAATGACTTTGGTGG	0.393													14	51					9.05144e-12	1.00016e-11	1	0	T	17199512	G	T	17199512	4	4	165	1	0	0	0	0	0	1	0	0	16562	1294	45	2	376	2	TRDMT1	10	17199512	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08		17199512	118335235	81	29671											
APBB1IP	54518	broad.mit.edu	37	chr10	26851329	26851329	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtcagtgctgttctccaaGaggcccagagacatgctgaa	10	9	11	11	0	2	3	1	1	1	2	3	4	2	3	2	1	2	3	2	1	2	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:26851329G>C	ENST00000376236.4	+	14	1899	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	APBB1IP_ENST00000493857.1_3'UTR	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	482					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGTTCTCCAAGAGGCCCAGAG	0.478													35	105					0	0	0	0	C	26851329	G	C	26851329	3	2	165	1	0	0	0	0	1	0	0	0	761	943	33	2	1490	2	APBB1IP	10	26851329	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	9651817	26851329	108683418	82	29672											
SLIT1	6585	broad.mit.edu	37	chr10	98823366	98823366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaaaacaggtggttggaGtgcaggcggctgcaagagga	11	6	17	7	2	0	1	0	0	0	1	1	3	0	3	0	6	3	5	0	6	3	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:98823366G>T	ENST00000266058.4	-	8	884	c.639C>A	c.(637-639)caC>caA	p.H213Q	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.H213Q|SLIT1_ENST00000371070.4_Missense_Mutation_p.H213Q	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	213					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGTGGTTGGAGTGCAGGCGGC	0.652													3	16					6.4e-05	6.70157e-05	1	0	T	98823366	G	T	98823366	3	4	165	1	0	0	0	0	1	0	0	0	14827	1020	36	4	4085	4	SLIT1	10	98823366	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	71972037	98823366	36711381	83	29673											
NFKB2	4791	broad.mit.edu	37	chr10	104161068	104161068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccggggccacacgcctcttGacctcacttgcagcaccaag	8	7	9	17	2	2	1	1	1	1	0	3	1	3	1	5	2	2	2	5	2	1	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:104161068G>A	ENST00000369966.3	+	19	2453	c.2203G>A	c.(2203-2205)Gac>Aac	p.D735N	NFKB2_ENST00000189444.6_Missense_Mutation_p.D735N|NFKB2_ENST00000428099.1_Missense_Mutation_p.D735N	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	735			Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CACGCCTCTTGACCTCACTTG	0.597			T	IGH@	B-NHL								24	56					0	0	0	0	A	104161068	G	A	104161068	3	1	165	1	0	0	0	0	1	0	0	0	10446	1290	45	2	2273	2	NFKB2	10	104161068	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	5337702	104161068	31373679	84	29674											
SORCS3	22986	broad.mit.edu	37	chr10	106937877	106937877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatggtttcacttcggttcCtctctttgttgacggggctc	3	17	11	10	2	2	1	1	1	1	0	6	1	3	1	1	4	0	5	1	4	1	6			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:106937877C>T	ENST00000369701.3	+	14	2182	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	652						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACTTCGGTTCCTCTCTTTGTT	0.478													10	38					0	0	0	0	T	106937877	C	T	106937877	3	4	165	1	0	0	0	0	1	0	0	0	15020	681	24	4	2009	4	SORCS3	10	106937877	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	2776809	106937877	28596870	85	29675											
TDRD1	56165	broad.mit.edu	37	chr10	115971687	115971687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaatctgtactggtcGgatatgtagattatggaaac	13	12	11	5	1	1	3	0	1	1	2	2	5	1	5	0	3	2	2	0	3	7	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:115971687G>A	ENST00000251864.2	+	14	1876	c.1723G>A	c.(1723-1725)Gga>Aga	p.G575R	TDRD1_ENST00000369280.1_Missense_Mutation_p.G575R|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369282.1_Missense_Mutation_p.G575R|TDRD1_ENST00000369281.2_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	575	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTACTGGTCGGATATGTAGA	0.398													26	69					0	0	0	0	A	115971687	G	A	115971687	3	1	165	1	0	0	0	0	1	0	0	0	15824	1117	39	1	1773	1	TDRD1	10	115971687	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	9033810	115971687	19563060	86	29676											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118357632	118357632	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagagcatgccgggatgcaaGaagaatgccctgtctcagat	12	7	13	9	1	1	4	1	0	1	4	2	6	1	5	2	1	4	2	2	1	3	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:118357632G>C	ENST00000528052.1	+	8	839	c.768G>C	c.(766-768)aaG>aaC	p.K256N	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.K256N|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.K256N			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	256					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CGGGATGCAAGAAGAATGCCC	0.517													7	23					0	0	0	0	C	118357632	G	C	118357632	3	2	165	1	0	0	0	0	1	0	0	0	12222	933	33	2	794	2	PNLIPRP1	10	118357632	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	2385945	118357632	17177115	87	29677											
SLC18A2	6571	broad.mit.edu	37	chr10	119015147	119015147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taaccacgctgctgaaggacCcgtacatcctcattgctgca	10	9	8	14	2	1	1	1	1	0	0	2	2	2	2	3	1	5	5	3	1	3	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:119015147C>T	ENST00000298472.5	+	9	1017	c.874C>T	c.(874-876)Ccg>Tcg	p.P292S	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	292					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GCTGAAGGACCCGTACATCCT	0.612													5	23					0	0	0	0	T	119015147	C	T	119015147	3	4	165	1	0	0	0	0	1	0	0	0	14514	623	22	4	904	4	SLC18A2	10	119015147	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	657515	119015147	16519600	88	29678											
WT1	7490	broad.mit.edu	37	chr11	32417947	32417947	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctactccaggcacacgtcGcacatcctgcaggcagagag	10	5	12	14	2	0	1	0	0	0	1	3	2	2	1	2	3	2	5	2	3	1	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr11:32417947G>A	ENST00000332351.3	-	7	1389	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	WT1_ENST00000530998.1_Nonsense_Mutation_p.R140*|WT1_ENST00000448076.3_Nonsense_Mutation_p.R369*|WT1_ENST00000379079.2_Nonsense_Mutation_p.R157*	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	301	Important for interaction with target DNA.		Q -> P (in DDS).		adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R301*(5)|p.R301fs*16(5)|p.R301fs*7(5)|p.?(3)|p.R302fs*15(3)|p.R301fs*8(2)|p.R301fs*3(1)|p.R301fs*11(1)|p.R301fs*17(1)|p.V300fs*6(1)|p.R301fs*19(1)|p.R301fs*6(1)|p.D299fs*15(1)|p.R301fs*73(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGCACACGTCGCACATCCTGC	0.522			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				13	28					0	0	0	0	A	32417947	G	A	32417947	4	1	165	1	0	0	0	0	0	1	0	0	17504	1095	38	1	464	1	WT1	11	32417947	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08		32417947	102588569	89	29679											
OR4P4	81300	broad.mit.edu	37	chr11	55406478	55406478	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgttgtcttgttgttgtcTtatgtttttatattgtatac	5	26	7	3	0	2	0	0	0	2	0	2	0	2	0	0	0	1	5	0	0	5	13			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr11:55406478T>C	ENST00000314612.2	+	1	645	c.645T>C	c.(643-645)tcT>tcC	p.S215S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TGTTGTTGTCTTATGTTTTTA	0.378													18	52					0	0	0	0	C	55406478	T	C	55406478	2	2	165	1	0	0	0	0	0	0	0	1	11151	1596	56	5		5	OR4P4	11	55406478	Silent	SNP	T	TCGA-CQ-A4CD-01A-21D-A25D-08	22988531	55406478	79600038	90	29680											
CDC42BPG	55561	broad.mit.edu	37	chr11	64594814	64594814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgcttgctcttggtgcGgaacagctggcgccggctgt	3	9	17	12	5	1	0	0	0	1	0	1	1	1	1	1	5	4	4	1	5	1	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr11:64594814G>A	ENST00000342711.5	-	33	4206	c.4207C>T	c.(4207-4209)Cgc>Tgc	p.R1403C		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1403					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CTCTTGGTGCGGAACAGCTGG	0.652													23	123					0	0	0	0	A	64594814	G	A	64594814	3	1	165	1	0	0	0	0	1	0	0	0	3103	1116	39	1	468	1	CDC42BPG	11	64594814	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	9188336	64594814	70411702	91	29681											
CDCA5	113130	broad.mit.edu	37	chr11	64851407	64851407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgcgcgccctccgctcaccgGagcgctgagcggctcctccg	3	5	13	20	8	1	1	1	1	0	0	4	2	4	2	5	2	2	3	5	2	0	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr11:64851407G>C	ENST00000275517.3	-	1	216	c.44C>G	c.(43-45)tCc>tGc	p.S15C	CDCA5_ENST00000404147.3_Missense_Mutation_p.S15C	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	15					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCGCTCACCGGAGCGCTGAGC	0.726													10	33					0	0	0	0	C	64851407	G	C	64851407	3	2	165	1	0	0	0	0	1	0	0	0	3118	1174	41	2	738	2	CDCA5	11	64851407	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	256593	64851407	70155109	92	29682											
MMP10	4319	broad.mit.edu	37	chr11	102647507	102647507	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacgaggaataaattggtgCctgtatgaaaatcataaatg	17	10	9	5	1	1	1	1	1	0	0	1	3	1	2	1	2	2	1	1	2	9	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr11:102647507C>T	ENST00000279441.4	-	5	659	c.622_splice	c.e5-1	p.G208_splice		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	208					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TAAATTGGTGCCTGTATGAAA	0.438													18	385					0	0	0	0	T	102647507	C	T	102647507	5	4	165	1	0	0	0	0	0	0	1	0	9718	753	26	4	831	4	MMP10	11	102647507	Splice_Site	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	37796100	102647507	32359009	93	29683											
DYNC2H1	79659	broad.mit.edu	37	chr11	102988494	102988494	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtgatagtctgtaatcatCtaacaggtcaggtgtggcag	10	11	14	6	0	4	1	2	1	2	0	4	1	4	1	0	4	1	2	0	4	3	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr11:102988494C>T	ENST00000375735.2	+	6	1045	c.901C>T	c.(901-903)Cta>Tta	p.L301L	DYNC2H1_ENST00000398093.3_Silent_p.L301L|DYNC2H1_ENST00000334267.7_Silent_p.L301L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	301	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGTAATCATCTAACAGGTCA	0.403													14	272					0	0	0	0	T	102988494	C	T	102988494	2	4	165	1	0	0	0	0	0	0	0	1	4882	912	32	2		2	DYNC2H1	11	102988494	Silent	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	340987	102988494	32018022	94	29684											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438571	6438571	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccagcaggtccatgtcgcgGagcacgcgtcccagcagctc	7	5	12	17	4	0	0	0	0	0	0	4	1	2	1	3	2	4	4	3	2	0	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:6438571G>C	ENST00000162749.2	-	10	1574	c.1275C>G	c.(1273-1275)ctC>ctG	p.L425L	TNFRSF1A_ENST00000540022.1_Silent_p.L382L	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	425	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCATGTCGCGGAGCACGCGTC	0.736													6	5					0	0	0	0	C	6438571	G	C	6438571	2	2	165	1	0	0	0	0	0	0	0	1	16387	1161	41	2		2	TNFRSF1A	12	6438571	Silent	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08		6438571	127413324	95	29685											
C1S	716	broad.mit.edu	37	chr12	7172550	7172550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaccttgcggagagaaGattttgatgtggaagcagct	10	11	15	5	1	0	4	0	2	0	2	0	7	0	6	1	3	3	2	1	3	2	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:7172550G>T	ENST00000406697.1	+	9	1292	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	C1S_ENST00000402681.3_Missense_Mutation_p.D55Y|C1S_ENST00000360817.5_Missense_Mutation_p.D222Y|C1S_ENST00000328916.3_Missense_Mutation_p.D222Y			P09871	C1S_HUMAN	complement component 1, s subcomponent	222	CUB 2.				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)	GCGGAGAGAAGATTTTGATGT	0.468													12	36					0.00136819	0.00141051	1	0	T	7172550	G	T	7172550	3	4	165	1	0	0	0	0	1	0	0	0	1993	942	33	2	682	2	C1S	12	7172550	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	733979	7172550	126679345	96	29686											
TAS2R31	259290	broad.mit.edu	37	chr12	11183603	11183603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaataaggttggagaaattgGcaatcttgagcaaataaaat	19	10	9	3	0	1	2	0	1	1	1	1	3	1	2	0	3	1	3	0	3	7	5			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:11183603G>A	ENST00000390675.2	-	1	403	c.332C>T	c.(331-333)gCc>gTc	p.A111V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	111					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						GGAGAAATTGGCAATCTTGAG	0.403													9	120					0	0	0	0	A	11183603	G	A	11183603	3	1	165	1	0	0	0	0	1	0	0	0	15665	1203	42	4	601	4	TAS2R31	12	11183603	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	4011053	11183603	122668292	97	29687											
ZNF641	121274	broad.mit.edu	37	chr12	48741052	48741052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacctgtgatccagccgcaaGaagtgcagctgccatctccc	9	7	9	16	1	1	2	0	1	1	1	3	2	2	2	5	0	4	3	5	0	2	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:48741052G>C	ENST00000544117.2	-	3	1009	c.301C>G	c.(301-303)Ctt>Gtt	p.L101V	ZNF641_ENST00000547026.1_Missense_Mutation_p.L87V|ZNF641_ENST00000448928.3_Missense_Mutation_p.L87V|ZNF641_ENST00000301042.3_Missense_Mutation_p.L101V			Q96N77	ZN641_HUMAN	zinc finger protein 641	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CCAGCCGCAAGAAGTGCAGCT	0.537													4	30					0	0	0	0	C	48741052	G	C	48741052	3	2	165	1	0	0	0	0	1	0	0	0	18152	942	33	2	1134	2	ZNF641	12	48741052	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	37557449	48741052	85110843	98	29688											
CCNT1	904	broad.mit.edu	37	chr12	49094798	49094798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggaaaataaacttacctAaagtctgcaaaattatgctt	19	11	5	6	0	1	0	0	0	1	0	1	1	1	1	1	1	4	2	1	1	11	5			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:49094798A>G	ENST00000261900.3	-	4	653	c.431T>C	c.(430-432)tTa>tCa	p.L144S		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	144					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AAACTTACCTAAAGTCTGCAA	0.279													6	28					0	0	0	0	G	49094798	A	G	49094798	3	3	165	1	0	0	0	0	1	0	0	0	2963	372	13	5	1773	5	CCNT1	12	49094798	Missense_Mutation	SNP	A	TCGA-CQ-A4CD-01A-21D-A25D-08	353746	49094798	84757097	99	29689											
DIP2B	57609	broad.mit.edu	37	chr12	51072582	51072582	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatctgccctgcagcgctGgggtaccactcaagcaaaat	11	8	10	12	1	2	1	1	1	1	0	2	1	2	1	2	2	5	4	2	2	5	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:51072582G>A	ENST00000301180.5	+	8	1071	c.1037G>A	c.(1036-1038)tGg>tAg	p.W346*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	346						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTGCAGCGCTGGGGTACCACT	0.532													16	29					0	0	0	0	A	51072582	G	A	51072582	4	1	165	1	0	0	0	0	0	1	0	0	4565	1357	47	4	1067	4	DIP2B	12	51072582	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	1977784	51072582	82779313	100	29690											
KRT82	3888	broad.mit.edu	37	chr12	52797498	52797498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactcactttttcttgtagcCctccagtgcagcctggaggc	6	12	10	13	0	2	0	1	0	1	0	3	2	3	1	3	2	3	2	3	2	1	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:52797498C>T	ENST00000257974.2	-	2	684	c.607G>A	c.(607-609)Ggc>Agc	p.G203S		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	203	Coil 1B.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ttcttgtagccctccagtgcA	0.582													27	101					0	0	0	0	T	52797498	C	T	52797498	3	4	165	1	0	0	0	0	1	0	0	0	8548	623	22	4	966	4	KRT82	12	52797498	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	1724916	52797498	81054397	101	29691											
TENC1	23371	broad.mit.edu	37	chr12	53447799	53447802	+	Splice_Site	DEL	GTAA	GTAA	-																															cagcgcagcactctgcccagGtaagtgagggtgctggggtg																										TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:53447799_53447802delGTAA	ENST00000314250.6	+	6	640		c.e6+1		TENC1_ENST00000546602.1_Splice_Site|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000379902.3_Splice_Site|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000314276.3_Splice_Site|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000451358.1_Splice_Site|TENC1_ENST00000552570.1_Splice_Site|TENC1_ENST00000549700.1_Splice_Site	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)						intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTCTGCCCAGGTAAGTGAGGGTGC	0.627											OREG0021855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	31	---	---	---	---					-	53447802	GTAA	-	53447799	8	5	165	1	0	1	0	1	0	0	1	0	15852	1275	44	0	482	0	TENC1	12	53447799	Splice_Site	DEL	GTAA	TCGA-CQ-A4CD-01A-21D-A25D-08	650301	53447799	80404096	102	29692											
PCBP2	5094	broad.mit.edu	37	chr12	53854798	53854798	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatttctttttactccaaaGagtacaggggctcaggtcca	11	12	9	9	0	2	1	1	0	1	1	4	2	4	1	2	3	2	2	2	3	4	5			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:53854798G>A	ENST00000603815.1	+	7	725		c.e7-1		PCBP2_ENST00000552819.1_Splice_Site|PCBP2_ENST00000548933.1_Splice_Site|PCBP2_ENST00000549863.1_Splice_Site|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000541275.1_Splice_Site|PCBP2_ENST00000359462.5_Splice_Site|PCBP2_ENST00000359282.5_Splice_Site|PCBP2_ENST00000552296.2_Splice_Site|PCBP2_ENST00000546463.1_Splice_Site|PCBP2_ENST00000455667.3_Splice_Site|PCBP2_ENST00000437231.1_Splice_Site|PCBP2_ENST00000439930.3_Splice_Site|PCBP2_ENST00000447282.1_Splice_Site	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2						innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TTACTCCAAAGAGTACAGGGG	0.438													16	40					0	0	0	0	A	53854798	G	A	53854798	5	1	165	1	0	0	0	0	0	0	1	0	11572	956	33	2	397	2	PCBP2	12	53854798	Splice_Site	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	406999	53854798	79997097	103	29693											
CDK4	1019	broad.mit.edu	37	chr12	58145293	58145294	+	Frame_Shift_Ins	INS	-	-	G																															ccttctcaccggacaacattINSgggatgctcaaaagcctcca																										TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:58145293_58145294insG	ENST00000257904.6	-	2	572_573	c.207_208insC	c.(205-210)ccatgtfs	p.C70fs	CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000312990.6_Frame_Shift_Ins_p.C70fs	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	70	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CGGACAACATTGGGATGCTCAA	0.564			Mis			melanoma			Hereditary Melanoma				26	69	---	---	---	---					G	58145294	-	G	58145293	7	5	165	1	0	1	1	0	0	0	0	0	3170	1812	63	0	731	0	CDK4	12	58145293	Frame_Shift_Ins	INS	-	TCGA-CQ-A4CD-01A-21D-A25D-08	4290495	58145293	75706602	104	29694											
ZFC3H1	196441	broad.mit.edu	37	chr12	72008698	72008698	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtttctttaatacttGattgaagaggatgacaaagg	13	13	9	6	0	1	4	0	3	1	1	1	5	1	5	1	2	1	1	1	2	4	6			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:72008698G>T	ENST00000378743.3	-	29	5634	c.5276C>A	c.(5275-5277)tCa>tAa	p.S1759*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1759					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTAATACTTGATTGAAGAGG	0.348													23	55					6.44725e-10	6.97e-10	1	0	T	72008698	G	T	72008698	4	4	165	1	0	0	0	0	0	1	0	0	17728	1294	45	2	721	2	ZFC3H1	12	72008698	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	13863405	72008698	61843197	105	29695											
FICD	11153	broad.mit.edu	37	chr12	108912624	108912624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcacatcctggagacccGctacgccgtgcccgggaaga	9	4	13	15	4	0	2	0	0	0	2	1	4	1	3	4	3	2	2	4	3	2	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:108912624G>A	ENST00000552695.1	+	3	984	c.749G>A	c.(748-750)cGc>cAc	p.R250H	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	250					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CTGGAGACCCGCTACGCCGTG	0.582													14	37					0	0	0	0	A	108912624	G	A	108912624	3	1	165	1	0	0	0	0	1	0	0	0	5932	1087	38	1	755	1	FICD	12	108912624	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	36903926	108912624	24939271	106	29696											
COQ5	84274	broad.mit.edu	37	chr12	120941680	120941680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatcttctatcatgtccttGaactcttcctgaaacacaag	11	13	5	12	0	4	2	1	2	3	0	6	2	6	2	2	0	2	1	2	0	4	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:120941680G>C	ENST00000288532.6	-	7	931	c.891C>G	c.(889-891)ttC>ttG	p.F297L	COQ5_ENST00000445328.2_Missense_Mutation_p.F223L	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	297					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGTCCTTGAACTCTTCCT	0.413													23	58					0	0	0	0	C	120941680	G	C	120941680	3	2	165	1	0	0	0	0	1	0	0	0	3778	1281	45	2	96	2	COQ5	12	120941680	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	12029056	120941680	12910215	107	29697											
MORN3	283385	broad.mit.edu	37	chr12	122097169	122097169	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgttggtcaggaaggctGagggtgccgtagccgtctcg	5	10	17	9	3	3	1	1	1	2	0	4	2	3	2	2	4	2	3	2	4	2	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:122097169G>A	ENST00000355329.3	-	2	401	c.231C>T	c.(229-231)ctC>ctT	p.L77L		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	77										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CAGGAAGGCTGAGGGTGCCGT	0.557													21	43					0	0	0	0	A	122097169	G	A	122097169	2	1	165	1	0	0	0	0	0	0	0	1	9779	1277	45	2		2	MORN3	12	122097169	Silent	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	1155489	122097169	11754726	108	29698											
TMED2	10959	broad.mit.edu	37	chr12	124069243	124069243	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggccacggtctcgggCtatttcgttagcatcgacgc	5	11	11	14	5	1	0	0	0	1	0	5	1	2	0	2	3	1	3	2	3	2	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:124069243C>G	ENST00000262225.3	+	1	166	c.60C>G	c.(58-60)ggC>ggG	p.G20G	RP11-486O12.2_ENST00000498967.2_lincRNA	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	20					protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding			kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		CGGTCTCGGGCTATTTCGTTA	0.642													6	27					0	0	0	0	G	124069243	C	G	124069243	2	3	165	1	0	0	0	0	0	0	0	1	16098	784	28	4		4	TMED2	12	124069243	Silent	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	1972074	124069243	9782652	109	29699											
TNFSF11	8600	broad.mit.edu	37	chr13	43180865	43180865	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcccaagttctcataccctGatgaaaggaggaagcaccaa	15	7	8	11	0	1	2	1	2	1	0	3	4	2	4	3	2	2	2	3	2	5	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr13:43180865G>C	ENST00000398795.2	+	5	914	c.546G>C	c.(544-546)ctG>ctC	p.L182L	TNFSF11_ENST00000405262.2_Silent_p.L182L|TNFSF11_ENST00000358545.2_Silent_p.L182L|TNFSF11_ENST00000239849.6_Silent_p.L255L|TNFSF11_ENST00000544862.1_Silent_p.L182L	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	255					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		CTCATACCCTGATGAAAGGAG	0.398													31	55					0	0	0	0	C	43180865	G	C	43180865	2	2	165	1	0	0	0	0	0	0	0	1	16396	1277	45	2		2	TNFSF11	13	43180865	Silent	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08		43180865	71989013	110	29700											
PCDH9	5101	broad.mit.edu	37	chr13	67800669	67800669	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaggaactctgctgctctCtatcaaatgagacatttgac	11	13	8	9	0	3	2	1	2	2	1	4	4	3	3	0	1	3	3	0	1	4	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr13:67800669C>G	ENST00000544246.1	-	2	2595	c.1904G>C	c.(1903-1905)aGa>aCa	p.R635T	PCDH9_ENST00000456367.1_Missense_Mutation_p.R635T|PCDH9_ENST00000377861.3_Missense_Mutation_p.R635T|PCDH9_ENST00000377865.2_Missense_Mutation_p.R635T|PCDH9_ENST00000328454.5_Missense_Mutation_p.R635T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	635	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGCTGCTCTCTATCAAATGA	0.403													22	70					0	0	0	0	G	67800669	C	G	67800669	3	3	165	1	0	0	0	0	1	0	0	0	11589	913	32	2	1825	2	PCDH9	13	67800669	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	24619804	67800669	47369209	111	29701											
SSTR1	6751	broad.mit.edu	37	chr14	38679420	38679420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccttaatggtgatgatgGtggtgatggtgtttgtcatc	7	16	13	5	0	2	3	2	3	0	0	3	3	2	3	1	4	0	1	1	4	1	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr14:38679420G>A	ENST00000267377.2	+	3	1443	c.826G>A	c.(826-828)Gtg>Atg	p.V276M		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	276					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GGTGATGATGGTGGTGATGGT	0.572													13	44					0	0	0	0	A	38679420	G	A	38679420	3	1	165	1	0	0	0	0	1	0	0	0	15287	1261	44	4	828	4	SSTR1	14	38679420	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08		38679420	68670120	112	29702											
PNN	5411	broad.mit.edu	37	chr14	39650601	39650601	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaactaggagcagaagtaGaggtcgagctagaaataaaa	20	5	11	5	1	0	3	0	0	0	3	1	5	0	4	0	2	3	3	0	2	9	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr14:39650601G>C	ENST00000216832.4	+	9	1755	c.1688G>C	c.(1687-1689)aGa>aCa	p.R563T	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	563	Ser-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AGCAGAAGTAGAGGTCGAGCT	0.448													12	51					0	0	0	0	C	39650601	G	C	39650601	3	2	165	1	0	0	0	0	1	0	0	0	12232	942	33	2	1722	2	PNN	14	39650601	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	971181	39650601	67698939	113	29703											
CDKN3	1033	broad.mit.edu	37	chr14	54868293	54868293	+	Silent	SNP	T	T	A																															tttctcggtttatgtgctctTccaggtgggtaacacaataa																										TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr14:54868293T>A	ENST00000541304.1	+	3	184	c.144T>A	c.(142-144)ctT>ctA	p.L48L	CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000335183.6_Silent_p.L48L|CDKN3_ENST00000442975.2_Intron|CDKN3_ENST00000543789.2_Silent_p.L48L|CDKN3_ENST00000458126.2_Silent_p.L48L|CDKN3_ENST00000556102.2_Silent_p.L48L			Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3	48					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(2)|stomach(1)	3						TATGTGCTCTTCCAGGTGGGT	0.328													15	45					0	0	0	0	A	54868293	T	A	54868293	2	1	165	1	0	0	0	0	0	0	0	1	3196	1770	62	5		5	CDKN3	14	54868293	Silent	SNP	T	TCGA-CQ-A4CD-01A-21D-A25D-08	15217692	54868293	52481247	114	29704	227	2									
CDKN3	1033	broad.mit.edu	37	chr14	54868294	54868294	+	Missense_Mutation	SNP	C	C	A																															ttctcggtttatgtgctcttCcaggtgggtaacacaataat																										TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr14:54868294C>A	ENST00000541304.1	+	3	185	c.145C>A	c.(145-147)Cca>Aca	p.P49T	CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000335183.6_Missense_Mutation_p.P49T|CDKN3_ENST00000442975.2_Intron|CDKN3_ENST00000543789.2_Missense_Mutation_p.P49T|CDKN3_ENST00000458126.2_Missense_Mutation_p.P49T|CDKN3_ENST00000556102.2_Missense_Mutation_p.P49T			Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3	49					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(2)|stomach(1)	3						ATGTGCTCTTCCAGGTGGGTA	0.328													15	44					1.01871e-10	1.11946e-10	1	0	A	54868294	C	A	54868294	3	1	165	1	0	0	0	0	1	0	0	0	3196	855	30	2	155	2	CDKN3	14	54868294	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	1	54868294	52481246	115	29705	227	2									
DYNC1H1	1778	broad.mit.edu	37	chr14	102492935	102492935	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatcccagtagaccaagaaGagttaagagattatgtcaaa	18	8	8	7	0	1	4	1	0	0	4	2	5	2	4	2	0	0	2	2	0	6	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr14:102492935G>C	ENST00000360184.4	+	44	8826	c.8662G>C	c.(8662-8664)Gag>Cag	p.E2888Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2888					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGACCAAGAAGAGTTAAGAGA	0.368													19	40					0	0	0	0	C	102492935	G	C	102492935	3	2	165	1	0	0	0	0	1	0	0	0	4877	943	33	2	8836	2	DYNC1H1	14	102492935	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	47624641	102492935	4856605	116	29706											
RPUSD2	27079	broad.mit.edu	37	chr15	40862066	40862066	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgagctcagcccctggcctActatgaggccgcggtccggg	5	6	14	16	4	1	1	1	1	0	0	2	2	2	1	6	4	3	1	6	4	2	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr15:40862066A>G	ENST00000315616.7	+	1	568	c.530A>G	c.(529-531)tAc>tGc	p.Y177C	RPUSD2_ENST00000559271.1_Intron	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	177					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		CCCCTGGCCTACTATGAGGCC	0.622													4	6					0	0	0	0	G	40862066	A	G	40862066	3	3	165	1	0	0	0	0	1	0	0	0	13752	391	14	5	532	5	RPUSD2	15	40862066	Missense_Mutation	SNP	A	TCGA-CQ-A4CD-01A-21D-A25D-08		40862066	61669326	117	29707											
CHAC1	79094	broad.mit.edu	37	chr15	41246009	41246009	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccatcggggcagcgacaaGatggtgagcatccaaccgtg	10	7	13	11	3	0	2	0	1	0	1	3	3	2	2	3	3	3	2	3	3	2	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr15:41246009G>A	ENST00000446533.3	+	1	663	c.354G>A	c.(352-354)aaG>aaA	p.K118K	CHAC1_ENST00000444189.2_Silent_p.K118K	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	118					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		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;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCAGCGACAAGATGGTGAGCA	0.662													4	8					0	0	0	0	A	41246009	G	A	41246009	2	1	165	1	0	0	0	0	0	0	0	1	3337	933	33	2		2	CHAC1	15	41246009	Silent	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	383943	41246009	61285383	118	29708											
HERC1	8925	broad.mit.edu	37	chr15	64067335	64067335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataataaacttagaccagttCgaacacccatttctataagt	16	12	4	9	1	1	1	0	0	1	1	2	2	1	1	2	0	2	1	2	0	7	7			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr15:64067335C>A	ENST00000443617.2	-	2	575	c.488G>T	c.(487-489)cGa>cTa	p.R163L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	163					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TAGACCAGTTCGAACACCCAT	0.468													48	157					1.76056e-25	1.98933e-25	1	0	A	64067335	C	A	64067335	3	1	165	1	0	0	0	0	1	0	0	0	7107	884	31	3	14405	3	HERC1	15	64067335	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	22821326	64067335	38464057	119	29709											
IGF1R	3480	broad.mit.edu	37	chr15	99442718	99442718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatgtagataacattgcttCagagctggagaacttcatgg	13	11	10	7	0	2	3	2	0	0	3	2	4	2	3	0	2	4	3	0	2	4	5	rs147236845		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr15:99442718C>T	ENST00000268035.6	+	5	1726	c.1115C>T	c.(1114-1116)tCa>tTa	p.S372L	IGF1R_ENST00000558762.1_Missense_Mutation_p.S372L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	372					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AACATTGCTTCAGAGCTGGAG	0.458													23	45					0	0	0	0	T	99442718	C	T	99442718	3	4	165	1	0	0	0	0	1	0	0	0	7624	838	29	2	1133	2	IGF1R	15	99442718	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	35375383	99442718	3088674	120	29710											
SPSB3	90864	broad.mit.edu	37	chr16	1828538	1828538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcacagtcacagaaggactCgccggtcacgggcaccgcac	11	3	12	15	4	2	1	2	0	0	1	3	2	2	2	2	3	1	3	2	3	1	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr16:1828538C>T	ENST00000566339.1	-	3	532	c.202G>A	c.(202-204)Gag>Aag	p.E68K	SPSB3_ENST00000301717.4_Missense_Mutation_p.E68K	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	68					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CAGAAGGACTCGCCGGTCACG	0.677													18	46					0	0	0	0	T	1828538	C	T	1828538	3	4	165	1	0	0	0	0	1	0	0	0	15204	893	31	1	885	1	SPSB3	16	1828538	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08		1828538	88526215	121	29711											
SRRM2	23524	broad.mit.edu	37	chr16	2815863	2815863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggtcccgttcccgctcaagGagagagaaaacaagaacaac	16	4	10	11	2	1	3	1	0	0	3	3	5	3	3	2	2	3	2	2	2	6	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr16:2815863G>C	ENST00000301740.8	+	11	5883	c.5334G>C	c.(5332-5334)agG>agC	p.R1778S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1778	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCGCTCAAGGAGAGAGAAAA	0.582													13	33					0	0	0	0	C	2815863	G	C	2815863	3	2	165	1	0	0	0	0	1	0	0	0	15259	1165	41	2	5372	2	SRRM2	16	2815863	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	987325	2815863	87538890	122	29712											
C16orf72	29035	broad.mit.edu	37	chr16	9210584	9210584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccccaggctctcctacaCatgtaagcagtggatcgaat	11	9	9	12	1	1	0	0	0	1	0	3	2	1	1	3	2	3	4	3	2	4	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr16:9210584C>T	ENST00000327827.7	+	4	1040	c.643C>T	c.(643-645)Cat>Tat	p.H215Y		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	215										endometrium(4)|large_intestine(2)|lung(2)	8						CTCTCCTACACATGTAAGCAG	0.433													24	98					0	0	0	0	T	9210584	C	T	9210584	3	4	165	1	0	0	0	0	1	0	0	0	1844	478	17	4	657	4	C16orf72	16	9210584	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	6394721	9210584	81144169	123	29713											
IQCK	124152	broad.mit.edu	37	chr16	19745024	19745024	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtctgcctccaggttgCgccagtagaggaaatgcttt	7	11	11	12	1	1	1	0	0	1	1	2	2	2	2	4	2	3	3	4	2	2	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr16:19745024C>A	ENST00000320394.6	+	4	950	c.251C>A	c.(250-252)gCg>gAg	p.A84E	IQCK_ENST00000541926.1_Missense_Mutation_p.A84E|IQCK_ENST00000433597.2_5'UTR|IQCK_ENST00000564186.1_Missense_Mutation_p.A84E	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	84										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CTCCAGGTTGCGCCAGTAGAG	0.423													24	81					3.01185e-09	3.23855e-09	1	0	A	19745024	C	A	19745024	3	1	165	1	0	0	0	0	1	0	0	0	7866	768	27	3	261	3	IQCK	16	19745024	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	10534440	19745024	70609729	124	29714											
CHP2	63928	broad.mit.edu	37	chr16	23768600	23768600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgcacggtgcaggaggctGatgaagatggggatggggct	9	6	19	7	2	0	3	0	2	0	1	0	5	0	5	1	7	1	4	1	7	1	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr16:23768600G>A	ENST00000300113.2	+	6	916	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	165	EF-hand 4.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCAGGAGGCTGATGAAGATGG	0.567													15	40					0	0	0	0	A	23768600	G	A	23768600	3	1	165	1	0	0	0	0	1	0	0	0	3396	1290	45	2	515	2	CHP2	16	23768600	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	4023576	23768600	66586153	125	29715											
SH2B1	25970	broad.mit.edu	37	chr16	28884863	28884863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaggcgtcgagggcgccaGaagtggcggcagcagcagcc	10	2	18	11	4	0	2	0	0	0	2	1	3	0	2	2	4	3	3	2	4	2	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr16:28884863G>C	ENST00000322610.8	+	11	2432	c.1993G>C	c.(1993-1995)Gaa>Caa	p.E665Q	SH2B1_ENST00000337120.5_3'UTR|SH2B1_ENST00000545570.1_3'UTR|SH2B1_ENST00000359285.5_3'UTR|SH2B1_ENST00000538342.1_3'UTR|SH2B1_ENST00000395532.4_3'UTR|SH2B1_ENST00000563674.1_3'UTR			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	665					blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GAGGGCGCCAGAAGTGGCGGC	0.657													4	19					0	0	0	0	C	28884863	G	C	28884863	3	2	165	1	0	0	0	0	1	0	0	0	14314	943	33	2	2180	2	SH2B1	16	28884863	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	5116263	28884863	61469890	126	29716											
DEF8	54849	broad.mit.edu	37	chr16	90016039	90016039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgccgcgggcaggacgcggGaggccaggtccgtgcatccc	6	3	17	15	6	0	0	0	0	0	0	2	2	2	2	4	5	1	2	4	5	0	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr16:90016039G>A	ENST00000268676.7	+	2	255	c.166G>A	c.(166-168)Gag>Aag	p.E56K	DEF8_ENST00000563795.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000418391.2_Intron|DEF8_ENST00000563594.1_Intron	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	56					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CAGGACGCGGGAGGCCAGGTC	0.667													17	36					0	0	0	0	A	90016039	G	A	90016039	3	1	165	1	0	0	0	0	1	0	0	0	4419	1175	41	2	168	2	DEF8	16	90016039	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	61131176	90016039	338714	127	29717											
TP53	7157	broad.mit.edu	37	chr17	7572959	7572962	+	Frame_Shift_Del	DEL	TGAG	TGAG	-																															aggcccttctgtcttgaacaTgagttttttatggcgggagg																								rs150842067		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:7572959_7572962delTGAG	ENST00000269305.4	-	11	1336_1339	c.1147_1150delCTCA	c.(1147-1152)tgfs	p.LM383fs	TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.LM383fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	383	Basic (repression of DNA-binding).|Interaction with CARM1.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(1)|p.L383F(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCTTGAACATGAGTTTTTTATGG	0.529		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	130	---	---	---	---					-	7572962	TGAG	-	7572959	7	5	165	1	0	1	0	1	0	0	0	0	16476	1464	51	0	35	0	TP53	17	7572959	Frame_Shift_Del	DEL	TGAG	TCGA-CQ-A4CD-01A-21D-A25D-08		7572959	73622251	128	29718											
TP53	7157	broad.mit.edu	37	chr17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcaggtcttggccagttGgcaaaacatcttgttgaggg	9	10	15	7	0	2	1	0	1	2	0	2	1	2	1	1	5	1	4	1	5	2	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:7578524G>C	ENST00000420246.2	-	5	538	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000269305.4_Missense_Mutation_p.Q136E|TP53_ENST00000413465.2_Missense_Mutation_p.Q136E|TP53_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGGCCAGTTGGCAAAACATC	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	43					0	0	0	0	C	7578524	G	C	7578524	3	2	165	1	0	0	0	0	1	0	0	0	16476	1357	47	4	892	4	TP53	17	7578524	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	5565	7578524	73616686	129	29719											
GUCY2D	3000	broad.mit.edu	37	chr17	7915473	7915473	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccctctcagctccaggagctCcggcatgagaacgtggccct	7	7	11	16	2	1	1	1	1	1	1	4	3	3	2	4	3	3	3	4	3	1	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:7915473C>G	ENST00000254854.4	+	9	1911	c.1761C>G	c.(1759-1761)ctC>ctG	p.L587L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	587	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TCCAGGAGCTCCGGCATGAGA	0.592													10	35					0	0	0	0	G	7915473	C	G	7915473	2	3	165	1	0	0	0	0	0	0	0	1	6947	842	30	2		2	GUCY2D	17	7915473	Silent	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	336949	7915473	73279737	130	29720											
NCOR1	9611	broad.mit.edu	37	chr17	15983977	15983977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagatagatcccactgacGgcttgggtgtttcttgagtg	8	12	14	7	1	1	4	0	2	1	2	2	6	2	4	1	2	0	2	1	2	1	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:15983977G>A	ENST00000268712.3	-	24	3499	c.3242C>T	c.(3241-3243)cCg>cTg	p.P1081L	NCOR1_ENST00000395851.1_Missense_Mutation_p.P1097L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1081	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.P1081L(1)|p.P1081Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCCCACTGACGGCTTGGGTGT	0.403													15	50					0	0	0	0	A	15983977	G	A	15983977	3	1	165	1	0	0	0	0	1	0	0	0	10305	1116	39	1	4172	1	NCOR1	17	15983977	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	8068504	15983977	65211233	131	29721											
NOS2	4843	broad.mit.edu	37	chr17	26091112	26091112	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgatgtccaggaagtaGgtgagggcctggctgagtga	8	9	19	5	0	0	4	0	4	0	0	1	5	1	5	2	5	0	2	2	5	2	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:26091112G>A	ENST00000313735.6	-	21	2720	c.2487C>T	c.(2485-2487)acC>acT	p.T829T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	829	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCAGGAAGTAGGTGAGGGCCT	0.617													3	19					0	0	0	0	A	26091112	G	A	26091112	2	1	165	1	0	0	0	0	0	0	0	1	10613	987	35	4		4	NOS2	17	26091112	Silent	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	10107135	26091112	55104098	132	29722											
IKZF3	22806	broad.mit.edu	37	chr17	37922071	37922071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagggctctgtgttctcctCtggctatgtgagacgagaac	7	11	13	10	1	3	2	0	1	3	2	4	4	3	2	1	2	1	4	1	2	2	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:37922071C>G	ENST00000346872.3	-	8	1563	c.1502G>C	c.(1501-1503)aGa>aCa	p.R501T	IKZF3_ENST00000467757.1_Missense_Mutation_p.R445T|IKZF3_ENST00000377944.3_Missense_Mutation_p.R358T|IKZF3_ENST00000439016.2_Missense_Mutation_p.R406T|IKZF3_ENST00000394189.2_Missense_Mutation_p.R319T|IKZF3_ENST00000377945.3_Missense_Mutation_p.R367T|IKZF3_ENST00000439167.2_Missense_Mutation_p.R428T|IKZF3_ENST00000350532.3_Missense_Mutation_p.R462T|IKZF3_ENST00000377952.2_Missense_Mutation_p.R280T|IKZF3_ENST00000346243.3_Missense_Mutation_p.R423T|IKZF3_ENST00000377958.2_Missense_Mutation_p.R414T|IKZF3_ENST00000583368.1_Missense_Mutation_p.R254T|IKZF3_ENST00000351680.3_Missense_Mutation_p.R462T|IKZF3_ENST00000535189.1_Missense_Mutation_p.R467T	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	501					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTGTTCTCCTCTGGCTATGTG	0.483													19	83					0	0	0	0	G	37922071	C	G	37922071	3	3	165	1	0	0	0	0	1	0	0	0	7669	913	32	2	31	2	IKZF3	17	37922071	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	11830959	37922071	43273139	133	29723											
SP2	6668	broad.mit.edu	37	chr17	45994113	45994113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaacgccagtgacaccGgggcccctactcagctcctc	7	8	10	16	2	1	2	1	2	0	0	3	2	2	2	5	2	3	1	5	2	2	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:45994113G>A	ENST00000376741.4	+	3	813	c.676G>A	c.(676-678)Ggg>Agg	p.G226R	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	226					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CAGTGACACCGGGGCCCCTAC	0.612													21	70					0	0	0	0	A	45994113	G	A	45994113	3	1	165	1	0	0	0	0	1	0	0	0	15052	1116	39	1	686	1	SP2	17	45994113	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	8072042	45994113	35201097	134	29724											
RNF157	114804	broad.mit.edu	37	chr17	74154560	74154560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcctcttcatgcagcaCggaagagttttgggaagtgg	9	12	12	8	1	3	1	1	0	2	1	4	3	4	3	1	3	2	3	1	3	2	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:74154560C>T	ENST00000269391.6	-	13	1459	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M	RNF157_ENST00000319945.6_Missense_Mutation_p.V443M	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	443	Ser-rich.						zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TCATGCAGCACGGAAGAGTTT	0.502													23	61					0	0	0	0	T	74154560	C	T	74154560	3	4	165	1	0	0	0	0	1	0	0	0	13539	536	19	1	740	1	RNF157	17	74154560	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	28160447	74154560	7040650	135	29725											
RNF213	57674	broad.mit.edu	37	chr17	78319633	78319633	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctataagctgtatcaaaGaagtcctgtgtgatcatatg	14	12	9	6	0	2	2	2	1	0	1	3	2	3	2	1	0	2	3	1	0	7	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:78319633G>C	ENST00000582970.1	+	29	7641	c.7498G>C	c.(7498-7500)Gaa>Caa	p.E2500Q	RNF213_ENST00000508628.2_Missense_Mutation_p.E2549Q|RNF213_ENST00000336301.6_Missense_Mutation_p.E573Q	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGTATCAAAGAAGTCCTGTG	0.483													24	71					0	0	0	0	C	78319633	G	C	78319633	3	2	165	1	0	0	0	0	1	0	0	0	13562	943	33	2	7927	2	RNF213	17	78319633	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	4165073	78319633	2875577	136	29726											
AATK	9625	broad.mit.edu	37	chr17	79098605	79098605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagctctggcgcgatccagCgcagaggcacccacagctgg	8	4	13	16	3	1	1	0	0	1	1	2	2	2	1	3	3	3	4	3	3	0	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:79098605C>T	ENST00000326724.4	-	9	908	c.884G>A	c.(883-885)cGc>cAc	p.R295H	AATK_ENST00000417379.1_Missense_Mutation_p.R192H	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	295	Protein kinase.					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGCGATCCAGCGCAGAGGCAC	0.667													7	14					0	0	0	0	T	79098605	C	T	79098605	3	4	165	1	0	0	0	0	1	0	0	0	26	768	27	1	3264	1	AATK	17	79098605	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	778972	79098605	2096605	137	29727											
DSC2	1824	broad.mit.edu	37	chr18	28672097	28672097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaaaaagacaaatattttCttcttttcttggttctcagt	11	18	4	8	0	4	1	1	0	4	1	6	1	5	1	1	1	0	1	1	1	4	8	rs140856220		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr18:28672097C>G	ENST00000280904.6	-	3	764	c.321G>C	c.(319-321)aaG>aaC	p.K107N	DSC2_ENST00000251081.6_Missense_Mutation_p.K107N	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	107					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAAATATTTTCTTCTTTTCTT	0.338													7	44					0	0	0	0	G	28672097	C	G	28672097	3	3	165	1	0	0	0	0	1	0	0	0	4802	912	32	2	2480	2	DSC2	18	28672097	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08		28672097	49405151	138	29728											
STK11	6794	broad.mit.edu	37	chr19	1218423	1218423	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctctgtcccagggaaattCaactactgaggaggttacgg	10	10	11	10	1	2	1	1	1	1	0	4	3	3	3	1	4	3	1	1	4	4	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:1218423C>T	ENST00000326873.7	+	2	1471	c.298C>T	c.(298-300)Caa>Taa	p.Q100*	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	100	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGAAATTCAACTACTGAG	0.527		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			20	51					0	0	0	0	T	1218423	C	T	1218423	4	4	165	1	0	0	0	0	0	1	0	0	15377	827	29	2	304	2	STK11	19	1218423	Nonsense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08		1218423	57910560	139	29729											
UHRF1	29128	broad.mit.edu	37	chr19	4950635	4950635	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgcagggcgctggctctCaactgctttgctcccatcaa	6	10	9	16	1	2	0	2	0	1	0	4	0	3	0	2	2	4	5	2	2	2	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:4950635C>G	ENST00000592666.1	+	0	2106							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CGCTGGCTCTCAACTGCTTTG	0.607													15	22					0	0	0	0	G	4950635	C	G	4950635	1	3	165	0	1	0	0	0	0	0	0	0	17063	813	29	2		2	UHRF1	19	4950635	RNA	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	3732212	4950635	54178348	140	29730											
MUC16	94025	broad.mit.edu	37	chr19	9011002	9011002	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacagagctccgatgggtGaaacctgcatagagaaggag	13	5	14	9	1	0	3	0	1	0	2	1	6	1	4	3	2	3	2	3	2	3	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:9011002G>C	ENST00000397910.4	-	37	39119	c.38916C>G	c.(38914-38916)ttC>ttG	p.F12972L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12974					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						TCCGATGGGTGAAACCTGCAT	0.542													17	78					0	0	0	0	C	9011002	G	C	9011002	3	2	165	1	0	0	0	0	1	0	0	0	10043	1281	45	2	4799	2	MUC16	19	9011002	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	4060367	9011002	50117981	141	29731											
PDE4A	5141	broad.mit.edu	37	chr19	10570275	10570275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcctgctctcaggagcGggacctgctgaagaaattcc	8	8	11	14	1	1	2	1	1	1	1	3	4	2	4	4	2	4	2	4	2	2	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:10570275G>A	ENST00000380702.2	+	11	1139	c.1139G>A	c.(1138-1140)cGg>cAg	p.R380Q	PDE4A_ENST00000344979.3_Missense_Mutation_p.R163Q|PDE4A_ENST00000352831.6_Missense_Mutation_p.R402Q|PDE4A_ENST00000440014.2_Missense_Mutation_p.R341Q|PDE4A_ENST00000293683.5_Missense_Mutation_p.R376Q|PDE4A_ENST00000592685.1_Missense_Mutation_p.R380Q			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	402	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	TCTCAGGAGCGGGACCTGCTG	0.637													10	28					0	0	0	0	A	10570275	G	A	10570275	3	1	165	1	0	0	0	0	1	0	0	0	11710	1116	39	1	1700	1	PDE4A	19	10570275	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	1559273	10570275	48558708	142	29732											
OR10H5	284433	broad.mit.edu	37	chr19	15905407	15905407	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctgccacgtgccaccTctgttgaagttggcctgtgg	4	14	11	12	1	3	1	0	1	3	0	3	1	3	1	4	2	2	2	4	2	1	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:15905407T>C	ENST00000308940.8	+	1	647	c.549T>C	c.(547-549)ccT>ccC	p.P183P		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						ACGTGCCACCTCTGTTGAAGT	0.577													7	75					0	0	0	0	C	15905407	T	C	15905407	2	2	165	1	0	0	0	0	0	0	0	1	10980	1538	54	5		5	OR10H5	19	15905407	Silent	SNP	T	TCGA-CQ-A4CD-01A-21D-A25D-08	5335132	15905407	43223576	143	29733											
SIN3B	23309	broad.mit.edu	37	chr19	16977298	16977298	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccaccaggctgtgaacttCaagcagaacgacaccaaggc	14	4	10	13	1	1	2	1	1	0	1	1	4	1	2	3	2	3	2	3	2	4	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:16977298C>G	ENST00000379803.1	+	13	1847	c.1833C>G	c.(1831-1833)ttC>ttG	p.F611L	SIN3B_ENST00000248054.5_Missense_Mutation_p.F579L|SIN3B_ENST00000595541.1_Missense_Mutation_p.F169L	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	611					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGTGAACTTCAAGCAGAACG	0.597													18	72					0	0	0	0	G	16977298	C	G	16977298	3	3	165	1	0	0	0	0	1	0	0	0	14414	825	29	2	1883	2	SIN3B	19	16977298	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	1071891	16977298	42151685	144	29734											
ABHD8	79575	broad.mit.edu	37	chr19	17405231	17405231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggccgctcatcatggcccGgagtacgaaggatgacacgt	9	7	13	12	4	2	1	2	1	0	0	2	4	2	3	2	4	1	2	2	4	2	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:17405231G>A	ENST00000247706.3	-	4	1254	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	339							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ATCATGGCCCGGAGTACGAAG	0.627													35	90					0	0	0	0	A	17405231	G	A	17405231	3	1	165	1	0	0	0	0	1	0	0	0	87	1115	39	1	312	1	ABHD8	19	17405231	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	427933	17405231	41723752	145	29735											
UPF1	5976	broad.mit.edu	37	chr19	18963799	18963799	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttttcatgtgctcagactCaagataacatcactgtcagg	11	13	8	9	0	5	2	5	0	0	2	5	2	5	2	0	1	2	2	0	1	2	3			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:18963799C>T	ENST00000262803.5	+	7	1248	c.976C>T	c.(976-978)Caa>Taa	p.Q326*	UPF1_ENST00000599848.1_Nonsense_Mutation_p.Q326*	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	326	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TGCTCAGACTCAAGATAACAT	0.552													17	52					0	0	0	0	T	18963799	C	T	18963799	4	4	165	1	0	0	0	0	0	1	0	0	17099	827	29	2	1002	2	UPF1	19	18963799	Nonsense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	1558568	18963799	40165184	146	29736											
RYR1	6261	broad.mit.edu	37	chr19	39003117	39003117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccagttcggagatgacGtcatccgtaagggcgcctga	10	7	13	11	4	1	3	1	2	0	1	3	4	2	3	3	2	1	3	3	2	1	2	rs150230127		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:39003117G>A	ENST00000355481.4	+	63	9597	c.9466G>A	c.(9466-9468)Gtc>Atc	p.V3156I	RYR1_ENST00000360985.3_Missense_Mutation_p.V3156I|RYR1_ENST00000359596.3_Missense_Mutation_p.V3156I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3156					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGGAGATGACGTCATCCGTAA	0.622													22	41					0	0	0	0	A	39003117	G	A	39003117	3	1	165	1	0	0	0	0	1	0	0	0	13853	1145	40	1	9716	1	RYR1	19	39003117	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	20039318	39003117	20125866	147	29737											
PSG3	5671	broad.mit.edu	37	chr19	43233993	43233993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggtcctgtatttcacattGatagggtcctgtttcatttc	6	18	8	9	1	2	1	2	1	0	0	6	1	4	1	2	2	0	2	2	2	2	6			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:43233993G>C	ENST00000327495.5	-	4	1109	c.925C>G	c.(925-927)Caa>Gaa	p.Q309E	PSG3_ENST00000595140.1_Missense_Mutation_p.Q309E	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	309	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ATTTCACATTGATAGGGTCCT	0.502													38	129					0	0	0	0	C	43233993	G	C	43233993	3	2	165	1	0	0	0	0	1	0	0	0	12735	1299	45	2	373	2	PSG3	19	43233993	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	4230876	43233993	15894990	148	29738											
SLC1A5	6510	broad.mit.edu	37	chr19	47278812	47278812	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccgtggcatcccctgcGggcccccgatagtgtttgag	5	8	14	14	4	0	1	0	1	0	0	1	3	1	1	5	2	1	2	5	2	1	2			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:47278812G>A	ENST00000542575.2	-	8	2209	c.1581C>T	c.(1579-1581)ccC>ccT	p.P527P	SLC1A5_ENST00000434726.2_Silent_p.P325P|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000412532.2_Silent_p.P299P|SLC1A5_ENST00000594991.1_Silent_p.P351P	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	527					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CATCCCCTGCGGGCCCCCGAT	0.597													38	145					0	0	0	0	A	47278812	G	A	47278812	2	1	165	1	0	0	0	0	0	0	0	1	14523	1103	39	1		1	SLC1A5	19	47278812	Silent	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08	4044819	47278812	11850171	149	29739											
CRX	1406	broad.mit.edu	37	chr19	48339631	48339631	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtggctctgaagatcaatCtgcctgagtccagggttcag	9	10	13	9	0	4	3	2	2	2	1	5	3	5	3	2	3	1	2	2	3	2	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:48339631C>G	ENST00000221996.7	+	3	438	c.232C>G	c.(232-234)Ctg>Gtg	p.L78V	CRX_ENST00000539067.1_Missense_Mutation_p.L78V|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	78					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GAAGATCAATCTGCCTGAGTC	0.607													9	41					0	0	0	0	G	48339631	C	G	48339631	3	3	165	1	0	0	0	0	1	0	0	0	3932	912	32	2	238	2	CRX	19	48339631	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	1060819	48339631	10789352	150	29740											
MBOAT7	79143	broad.mit.edu	37	chr19	54691100	54691100	+	Silent	SNP	C	C	A																															ggcgtgggagtgggcaggccCaggaggctgagggctcggaa																										TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:54691100C>A	ENST00000245615.1	-	4	756	c.276G>T	c.(274-276)ctG>ctT	p.L92L	MBOAT7_ENST00000391754.1_Silent_p.L92L|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Intron	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	92					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGGCAGGCCCAGGAGGCTGA	0.652													3	5					0.004672	0.00479179	1	0	A	54691100	C	A	54691100	2	1	165	1	0	0	0	0	0	0	0	1	9427	581	21	4		4	MBOAT7	19	54691100	Silent	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	6351469	54691100	4437883	151	29741	228	2									
MBOAT7	79143	broad.mit.edu	37	chr19	54691101	54691101	+	Missense_Mutation	SNP	A	A	G																															gcgtgggagtgggcaggcccAggaggctgagggctcggaag																										TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:54691101A>G	ENST00000245615.1	-	4	755	c.275T>C	c.(274-276)cTg>cCg	p.L92P	MBOAT7_ENST00000391754.1_Missense_Mutation_p.L92P|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Intron	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	92					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGCAGGCCCAGGAGGCTGAG	0.652													3	5					0	0	0	0	G	54691101	A	G	54691101	3	3	165	1	0	0	0	0	1	0	0	0	9427	188	7	5	1167	5	MBOAT7	19	54691101	Missense_Mutation	SNP	A	TCGA-CQ-A4CD-01A-21D-A25D-08	1	54691101	4437882	152	29742	228	2									
TPX2	22974	broad.mit.edu	37	chr20	30365422	30365422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactttacatctgaactacGaaagcatccttcatctcctg	12	12	5	12	1	3	1	1	1	2	0	5	3	4	1	2	0	5	1	2	0	5	4			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr20:30365422G>T	ENST00000340513.4	+	9	1391	c.863G>T	c.(862-864)cGa>cTa	p.R288L	TPX2_ENST00000300403.6_Missense_Mutation_p.R288L			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	288					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TCTGAACTACGAAAGCATCCT	0.373													20	42					2.32416e-17	2.59682e-17	1	0	T	30365422	G	T	30365422	3	4	165	1	0	0	0	0	1	0	0	0	16527	1058	37	3	889	3	TPX2	20	30365422	Missense_Mutation	SNP	G	TCGA-CQ-A4CD-01A-21D-A25D-08		30365422	32660098	153	29743											
ZBTB46	140685	broad.mit.edu	37	chr20	62378317	62378317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgaagtccttgtcagggcctCctggggggctgcgcggccgc	3	7	17	14	4	1	0	1	0	0	0	3	1	3	0	4	5	1	1	4	5	1	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr20:62378317C>T	ENST00000245663.4	-	5	1886	c.1736G>A	c.(1735-1737)gGa>gAa	p.G579E	ZBTB46_ENST00000395104.1_Missense_Mutation_p.G579E|ZBTB46_ENST00000302995.2_Missense_Mutation_p.G579E	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTCAGGGCCTCCTGGGGGGCT	0.716													3	5					0	0	0	0	T	62378317	C	T	62378317	3	4	165	1	0	0	0	0	1	0	0	0	17642	855	30	2	37	2	ZBTB46	20	62378317	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	32012895	62378317	647203	154	29744											
NPBWR2	2832	broad.mit.edu	37	chr20	62737341	62737341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtccgtggtcagggccaCgacagaggccaggtggaagg	9	4	18	10	2	1	1	1	0	0	1	2	3	2	2	3	7	0	0	3	7	1	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr20:62737341C>T	ENST00000369768.1	-	1	1183	c.844G>A	c.(844-846)Gtg>Atg	p.V282M		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	282						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GTCAGGGCCACGACAGAGGCC	0.642													13	26					0	0	0	0	T	62737341	C	T	62737341	3	4	165	1	0	0	0	0	1	0	0	0	10639	536	19	1	160	1	NPBWR2	20	62737341	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	359024	62737341	288179	155	29745											
LIPI	149998	broad.mit.edu	37	chr21	15538724	15538724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agccaggttgtttatttcctCcatttggataaaaatctata	12	16	6	7	0	1	0	0	0	1	0	3	1	3	1	3	2	1	2	3	2	6	8			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr21:15538724C>G	ENST00000344577.2	-	5	780	c.755G>C	c.(754-756)gGa>gCa	p.G252A	LIPI_ENST00000536861.1_Missense_Mutation_p.G231A	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	231					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTTATTTCCTCCATTTGGATA	0.338													20	45					0	0	0	0	G	15538724	C	G	15538724	3	3	165	1	0	0	0	0	1	0	0	0	8880	855	30	2	714	2	LIPI	21	15538724	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08		15538724	32591171	156	29746											
ADSL	158	broad.mit.edu	37	chr22	40742709	40742709	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtggctggcggaggcCgagcaggtaacggatcccgg	6	6	19	10	4	0	0	0	0	0	0	1	3	1	2	2	8	2	4	2	8	1	1			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr22:40742709C>G	ENST00000216194.7	+	1	203	c.147C>G	c.(145-147)gcC>gcG	p.A49A	ADSL_ENST00000342312.6_Silent_p.A49A|ADSL_ENST00000454266.2_Silent_p.A49A	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	49					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TGGCGGAGGCCGAGCAGGTAA	0.687													4	8					0	0	0	0	G	40742709	C	G	40742709	2	3	165	1	0	0	0	0	0	0	0	1	346	639	23	3		3	ADSL	22	40742709	Silent	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08		40742709	10561857	157	29747											
WWC3	55841	broad.mit.edu	37	chrX	10102535	10102535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccagcctcgtgaaggagCggcccagccgccgggcccga	7	2	15	17	5	0	1	0	1	0	0	1	3	0	2	6	3	4	0	6	3	1	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chrX:10102535C>T	ENST00000380861.4	+	19	3053	c.2662C>T	c.(2662-2664)Cgg>Tgg	p.R888W	WWC3_ENST00000454666.1_Missense_Mutation_p.R888W	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	888										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGTGAAGGAGCGGCCCAGCCG	0.557													49	51					0	0	0	0	T	10102535	C	T	10102535	3	4	165	1	0	0	0	0	1	0	0	0	17509	759	27	1	2732	1	WWC3	23	10102535	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08		10102535	145168025	158	29748											
COL4A5	1287	broad.mit.edu	37	chrX	107829872	107829872	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagacctgggactggtataActataggagaaaaaggaaac	17	7	11	6	0	0	2	0	0	0	2	0	5	0	4	1	4	2	1	1	4	8	5			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chrX:107829872A>G	ENST00000328300.6	+	19	1304	c.1060A>G	c.(1060-1062)Act>Gct	p.T354A	COL4A5_ENST00000361603.2_Missense_Mutation_p.T354A	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	354	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GACTGGTATAACTATAGGAGA	0.423									Alport syndrome with Diffuse Leiomyomatosis				27	32					0	0	0	0	G	107829872	A	G	107829872	3	3	165	1	0	0	0	0	1	0	0	0	3724	43	2	5	1134	5	COL4A5	23	107829872	Missense_Mutation	SNP	A	TCGA-CQ-A4CD-01A-21D-A25D-08	97727337	107829872	47440688	159	29749											
CAPN6	827	broad.mit.edu	37	chrX	110492172	110492172	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatttttaccttgaagagCtcaaagccaatgatgtaatt	13	13	6	9	0	1	3	1	2	0	1	1	3	1	3	3	0	3	2	3	0	5	6			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chrX:110492172C>T	ENST00000324068.1	-	9	1439	c.1272G>A	c.(1270-1272)gaG>gaA	p.E424E	CAPN6_ENST00000541758.1_Silent_p.E169E	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	424	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTGAAGAGCTCAAAGCCAA	0.463													29	41					0	0	0	0	T	110492172	C	T	110492172	2	4	165	1	0	0	0	0	0	0	0	1	2655	796	28	4		4	CAPN6	23	110492172	Silent	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	2662300	110492172	44778388	160	29750											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298868	125298868	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcacgcctgtgccaccctctCgagagcacaggggccggatg	7	5	14	15	3	1	1	0	0	1	1	2	3	1	2	4	3	2	2	4	3	0	0			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chrX:125298868C>G	ENST00000538699.1	-	2	1120	c.1040G>C	c.(1039-1041)cGa>cCa	p.R347P	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R347P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	347										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCACCCTCTCGAGAGCACAG	0.622													23	25					0	0	0	0	G	125298868	C	G	125298868	3	3	165	1	0	0	0	0	1	0	0	0	4298	884	31	3	355	3	DCAF12L2	23	125298868	Missense_Mutation	SNP	C	TCGA-CQ-A4CD-01A-21D-A25D-08	14806696	125298868	29971692	161	29751											
HES4	57801	broad.mit.edu	37	chr1	934936	934936	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcgacgcaggctccgcaGgtgtctcacggtcatctcca	7	7	11	16	5	3	0	2	0	2	0	6	1	4	0	2	3	0	3	2	3	0	0			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr1:934936G>A	ENST00000428771.2	-	2	538	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	HES4_ENST00000304952.6_Silent_p.L88L|HES4_ENST00000484667.2_Silent_p.L56L	NM_001142467.1|NM_021170.3	NP_001135939.1|NP_066993.1	Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	88	Orange.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGCTCCGCAGGTGTCTCACG	0.741													5	40					0	0	0	0	A	934936	G	A	934936	2	1	166	1	0	0	0	0	0	0	0	1	7118	991	35	4		4	HES4	1	934936	Silent	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08		934936	248315685	1	29752											
ACTRT2	140625	broad.mit.edu	37	chr1	2938391	2938391	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgaaattccaggctccCtcagcagaggccaaccagaa	13	5	8	15	0	1	3	1	1	0	2	3	3	3	3	5	2	2	2	5	2	3	1			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr1:2938391C>A	ENST00000378404.2	+	1	346	c.141C>A	c.(139-141)ccC>ccA	p.P47P		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	47						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCCAGGCTCCCTCAGCAGAGG	0.607													5	74					0.000602214	0.00067039	1	0	A	2938391	C	A	2938391	2	1	166	1	0	0	0	0	0	0	0	1	219	668	24	4		4	ACTRT2	1	2938391	Silent	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	2003455	2938391	246312230	2	29753											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809387	18809387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgccaaggaaatcttcGtcaccggcggctcgctgcgc	6	8	13	14	6	2	0	1	0	1	0	4	1	2	1	2	3	3	2	2	3	2	1			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr1:18809387G>A	ENST00000400664.1	+	1	1964	c.1912G>A	c.(1912-1914)Gtc>Atc	p.V638I		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	638						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAATCTTCGTCACCGGCGG	0.711													5	28					0	0	0	0	A	18809387	G	A	18809387	3	1	166	1	0	0	0	0	1	0	0	0	8412	1145	40	1	1914	1	KLHDC7A	1	18809387	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	15870996	18809387	230441234	3	29754											
NASP	4678	broad.mit.edu	37	chr1	46080809	46080809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttggcttatgggtacaaCtctcagtatgatgaggcagt	9	12	13	7	0	1	2	1	2	1	0	2	2	1	2	0	4	2	5	0	4	4	4	rs139279656	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr1:46080809C>G	ENST00000350030.3	+	10	1878	c.1791C>G	c.(1789-1791)aaC>aaG	p.N597K	NASP_ENST00000537798.1_Missense_Mutation_p.N533K|NASP_ENST00000372052.4_Missense_Mutation_p.N231K|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000351223.3_Missense_Mutation_p.N258K|NASP_ENST00000402363.3_Missense_Mutation_p.N599K	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	597	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					ATGGGTACAACTCTCAGTATG	0.507													5	85					0	0	0	0	G	46080809	C	G	46080809	3	3	166	1	0	0	0	0	1	0	0	0	10242	564	20	4	1906	4	NASP	1	46080809	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	27271422	46080809	203169812	4	29755											
ZCCHC11	23318	broad.mit.edu	37	chr1	52896752	52896752	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacggggccagtgtccatcGtgagacgtgttagggattgc	7	10	16	8	3	0	1	0	1	0	1	2	3	1	2	2	3	2	2	2	3	2	3			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr1:52896752G>A	ENST00000371544.3	-	28	4903	c.4641C>T	c.(4639-4641)caC>caT	p.H1547H	ZCCHC11_ENST00000257177.4_Silent_p.H1548H	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1547	Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGTGTCCATCGTGAGACGTGT	0.512													10	84					0	0	0	0	A	52896752	G	A	52896752	2	1	166	1	0	0	0	0	0	0	0	1	17675	1136	40	1		1	ZCCHC11	1	52896752	Silent	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	6815943	52896752	196353869	5	29756											
DUSP27	92235	broad.mit.edu	37	chr1	167095194	167095194	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgcgggagctcaatGagaagttgatggaggagaga	13	6	17	5	1	1	3	1	2	0	2	1	8	1	6	0	3	4	4	0	3	2	1			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr1:167095194G>T	ENST00000361200.2	+	6	992	c.826G>T	c.(826-828)Gag>Tag	p.E276*	DUSP27_ENST00000443333.1_Nonsense_Mutation_p.E276*|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.E276*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	276					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGCTCAATGAGAAGTTGAT	0.602													12	68					0.00136819	0.00149488	1	0	T	167095194	G	T	167095194	4	4	166	1	0	0	0	0	0	1	0	0	4860	1291	45	2	844	2	DUSP27	1	167095194	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	114198442	167095194	82155427	6	29757											
DCAF6	55827	broad.mit.edu	37	chr1	168013891	168013891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatctgcagaaaacccagttGagaaccatatcaatataagt	17	10	6	8	0	2	2	1	1	1	2	2	3	2	2	2	0	3	2	2	0	8	5			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr1:168013891G>A	ENST00000367840.3	+	15	2006	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	DCAF6_ENST00000367843.3_Missense_Mutation_p.E581K|DCAF6_ENST00000432587.2_Missense_Mutation_p.E607K|DCAF6_ENST00000312263.6_Missense_Mutation_p.E561K	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	584					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AAACCCAGTTGAGAACCATAT	0.363													19	78					0	0	0	0	A	168013891	G	A	168013891	3	1	166	1	0	0	0	0	1	0	0	0	4307	1291	45	2	1795	2	DCAF6	1	168013891	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	918697	168013891	81236730	7	29758											
KLHL12	59349	broad.mit.edu	37	chr1	202888952	202888953	+	Frame_Shift_Ins	INS	-	-	TGTG																															actgtcacatgtactgtttcINStgtgtacacaaagtccaata																										TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr1:202888952_202888953insTGTG	ENST00000367261.3	-	3	497_498	c.279_280insCACA	c.(277-282)acaaacfs	p.N94fs	KLHL12_ENST00000435533.3_Frame_Shift_Ins_p.N132fs	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	94	BTB.				Wnt receptor signaling pathway		protein binding	p.E94K(1)		NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGTACTGTTTCTGTGTACACAA	0.401													9	111	---	---	---	---					TGTG	202888953	-	TGTG	202888952	7	5	166	1	0	1	1	0	0	0	0	0	8420	922	32	0	1466	0	KLHL12	1	202888952	Frame_Shift_Ins	INS	-	TCGA-CQ-A4CE-01A-11D-A25Y-08	34875061	202888952	46361669	8	29759											
GREB1	9687	broad.mit.edu	37	chr2	11725892	11725892	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgggtgttcctagagagCgcaggcatgtcctgcgtgcc	5	11	14	11	2	1	1	0	0	1	1	3	2	3	1	3	2	3	3	3	2	1	3			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr2:11725892C>T	ENST00000381486.2	+	9	1320	c.1020C>T	c.(1018-1020)agC>agT	p.S340S	GREB1_ENST00000234142.5_Silent_p.S340S|GREB1_ENST00000263834.5_Silent_p.S340S|GREB1_ENST00000381483.2_Silent_p.S340S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	340						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCTAGAGAGCGCAGGCATGT	0.537													6	59					0	0	0	0	T	11725892	C	T	11725892	2	4	166	1	0	0	0	0	0	0	0	1	6810	767	27	1		1	GREB1	2	11725892	Silent	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08		11725892	231473481	9	29760											
ABCG5	64240	broad.mit.edu	37	chr2	44065004	44065004	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggatgcacatgatctgcccGctctccacgtacaaggagac	11	7	10	13	2	2	2	0	1	2	1	3	4	2	3	2	2	3	3	2	2	2	1			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr2:44065004G>A	ENST00000260645.1	-	2	373	c.234C>T	c.(232-234)agC>agT	p.S78S	ABCG5_ENST00000405322.1_5'UTR|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	78	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.S78R(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGATCTGCCCGCTCTCCACGT	0.502													17	85					0	0	0	0	A	44065004	G	A	44065004	2	1	166	1	0	0	0	0	0	0	0	1	71	1078	38	1		1	ABCG5	2	44065004	Silent	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	32339112	44065004	199134369	10	29761											
XIRP2	129446	broad.mit.edu	37	chr2	168101531	168101531	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgaaaatcagtccttagAttctataagttctagttcag	13	16	6	6	0	4	2	2	1	2	1	5	2	5	2	1	0	0	2	1	0	6	8			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr2:168101531A>T	ENST00000409195.1	+	9	3718	c.3629A>T	c.(3628-3630)gAt>gTt	p.D1210V	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1210V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D988V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1035					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						CAGTCCTTAGATTCTATAAGT	0.328													19	48					0	0	0	0	T	168101531	A	T	168101531	3	4	166	1	0	0	0	0	1	0	0	0	17526	333	12	5	3659	5	XIRP2	2	168101531	Missense_Mutation	SNP	A	TCGA-CQ-A4CE-01A-11D-A25Y-08	124036527	168101531	75097842	11	29762											
TTN	7273	broad.mit.edu	37	chr2	179469534	179469534	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataatgggtgatttcactGccaccattatcaagaggggc	12	10	10	9	0	2	2	2	1	0	1	2	2	2	2	2	3	1	0	2	3	3	3			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr2:179469534G>T	ENST00000589042.1	-	281	54506	c.54282C>A	c.(54280-54282)ggC>ggA	p.G18094G	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.G16453G|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.G9221G|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.G15526G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.G9029G|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.G9154G|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16453	Fibronectin type-III 31.		E -> A.				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)			TGATTTCACTGCCACCATTAT	0.453													17	105					9.16793e-09	1.0711e-08	1	0	T	179469534	G	T	179469534	2	4	166	1	0	0	0	0	0	0	0	1	16831	1306	46	4		4	TTN	2	179469534	Silent	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	11368003	179469534	63729839	12	29763											
CNTN4	152330	broad.mit.edu	37	chr3	2967357	2967357	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactcttgaaaagagtaactCttgtcaaagtgggaggtgaa	14	10	11	6	0	3	3	1	2	2	1	3	4	3	4	0	2	1	1	0	2	5	3			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr3:2967357C>G	ENST00000397461.1	+	12	1636	c.1252C>G	c.(1252-1254)Ctt>Gtt	p.L418V	CNTN4_ENST00000448906.2_Missense_Mutation_p.L90V|CNTN4_ENST00000358480.3_Missense_Mutation_p.L199V|CNTN4_ENST00000427331.1_Missense_Mutation_p.L418V|CNTN4_ENST00000397459.2_Missense_Mutation_p.L90V|CNTN4_ENST00000418658.1_Missense_Mutation_p.L418V|CNTN4_ENST00000475817.1_3'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	418	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAGAGTAACTCTTGTCAAAGT	0.363													17	123					0	0	0	0	G	2967357	C	G	2967357	3	3	166	1	0	0	0	0	1	0	0	0	3673	913	32	2	1290	2	CNTN4	3	2967357	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08		2967357	195055073	13	29764											
SRGAP3	9901	broad.mit.edu	37	chr3	9102000	9102000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagcaagtagtcattccggGcctttgtgcatttcagcttg	7	14	11	9	1	2	1	2	1	0	0	3	1	3	1	2	1	3	4	2	1	2	5			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr3:9102000G>A	ENST00000383836.3	-	6	1143	c.716C>T	c.(715-717)gCc>gTc	p.A239V	SRGAP3_ENST00000360413.3_Missense_Mutation_p.A239V|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	239					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GTCATTCCGGGCCTTTGTGCA	0.483			T	RAF1	pilocytic astrocytoma								12	67					0	0	0	0	A	9102000	G	A	9102000	3	1	166	1	0	0	0	0	1	0	0	0	15237	1203	42	4	2686	4	SRGAP3	3	9102000	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	6134643	9102000	188920430	14	29765											
TRANK1	9881	broad.mit.edu	37	chr3	36875084	36875084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccctggccacattgaggCgggcggcccccagcagacat	9	5	12	15	2	0	2	0	1	0	1	1	2	1	2	4	4	1	1	4	4	1	1			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr3:36875084C>T	ENST00000301807.6	-	21	6105	c.4208G>A	c.(4207-4209)cGc>cAc	p.R1403H	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1403H|TRANK1_ENST00000429976.2_Missense_Mutation_p.R1953H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1953					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACATTGAGGCGGGCGGCCCC	0.577													5	37					0	0	0	0	T	36875084	C	T	36875084	3	4	166	1	0	0	0	0	1	0	0	0	16549	768	27	1	2931	1	TRANK1	3	36875084	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	27773084	36875084	161147346	15	29766											
PLXNB1	5364	broad.mit.edu	37	chr3	48456266	48456266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatggtggggtcctcagggTtgagtggctgcagggtgggg	4	9	22	6	0	1	1	1	1	0	0	2	1	2	1	1	8	1	4	1	8	0	1			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr3:48456266T>C	ENST00000358536.4	-	21	4420	c.4151A>G	c.(4150-4152)aAc>aGc	p.N1384S	PLXNB1_ENST00000456774.1_Missense_Mutation_p.N1201S|PLXNB1_ENST00000358459.4_Missense_Mutation_p.N1201S|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000296440.6_Missense_Mutation_p.N1384S|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1384					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCTCAGGGTTGAGTGGCTG	0.587													19	77					0	0	0	0	C	48456266	T	C	48456266	3	2	166	1	0	0	0	0	1	0	0	0	12195	1725	60	5	2328	5	PLXNB1	3	48456266	Missense_Mutation	SNP	T	TCGA-CQ-A4CE-01A-11D-A25Y-08	11581182	48456266	149566164	16	29767											
PARP3	10039	broad.mit.edu	37	chr3	51981894	51981894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcgacagtgtcattgcccGaggccacaccgagcctggtg	7	8	12	14	3	1	0	1	0	0	0	2	3	1	0	4	2	2	0	4	2	0	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr3:51981894G>A	ENST00000417220.2	+	11	1903	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	PARP3_ENST00000398755.3_Missense_Mutation_p.R479Q|PARP3_ENST00000486510.1_3'UTR|PARP3_ENST00000431474.1_Missense_Mutation_p.R472Q			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	472	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTCATTGCCCGAGGCCACACC	0.607													21	169					0	0	0	0	A	51981894	G	A	51981894	3	1	166	1	0	0	0	0	1	0	0	0	11533	1058	37	1	1474	1	PARP3	3	51981894	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	3525628	51981894	146040536	17	29768											
ZBED2	79413	broad.mit.edu	37	chr3	111312457	111312457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgctggcatgcctccttctCagccctcaccttccacttca	5	11	5	20	1	3	0	3	0	1	0	6	0	5	0	6	1	2	2	6	1	0	3			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr3:111312457C>G	ENST00000317012.4	-	2	1600	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	198							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						GCCTCCTTCTCAGCCCTCACC	0.532													16	98					0	0	0	0	G	111312457	C	G	111312457	3	3	166	1	0	0	0	0	1	0	0	0	17614	835	29	2	68	2	ZBED2	3	111312457	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	59330563	111312457	86709973	18	29769											
MYLK	4638	broad.mit.edu	37	chr3	123456283	123456283	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccgttcaccaccaggcaCgtgtacactcccacgtcatc	9	7	7	18	3	2	0	2	0	0	0	4	1	3	0	4	1	1	3	4	1	1	2	rs41271441		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr3:123456283C>T	ENST00000360772.3	-	9	1074	c.696G>A	c.(694-696)acG>acA	p.T232T	MYLK_ENST00000475616.1_Silent_p.T232T|MYLK_ENST00000360304.3_Silent_p.T232T|MYLK_ENST00000346322.5_Silent_p.T232T|MYLK_ENST00000359169.1_Silent_p.T232T			Q15746	MYLK_HUMAN	myosin light chain kinase	232	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCACCAGGCACGTGTACACTC	0.567													28	156					0	0	0	0	T	123456283	C	T	123456283	2	4	166	1	0	0	0	0	0	0	0	1	10126	523	19	1		1	MYLK	3	123456283	Silent	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	12143826	123456283	74566147	19	29770											
CRIPAK	285464	broad.mit.edu	37	chr4	1388930	1388931	+	Frame_Shift_Ins	INS	-	-	CA																															atgtggagtgcctgcctgctINScacacgtgcccatgtggagt																								rs71299249		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr4:1388930_1388931insCA	ENST00000324803.4	+	1	3591_3592	c.631_632insCA	c.(631-633)acafs	p.T211fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	211					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCTGCCTGCTCACACGTGCCC	0.663													9	165	---	---	---	---					CA	1388931	-	CA	1388930	7	5	166	1	0	1	1	0	0	0	0	0	3907	1551	54	0	633	0	CRIPAK	4	1388930	Frame_Shift_Ins	INS	-	TCGA-CQ-A4CE-01A-11D-A25Y-08		1388930	189765346	20	29771											
ZBTB49	166793	broad.mit.edu	37	chr4	4322503	4322503	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcacaagaagatgcactgCaaagctggtgacgagagccc	13	4	13	11	2	0	4	0	1	0	3	0	5	0	4	1	2	4	4	1	2	3	0			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr4:4322503C>A	ENST00000337872.4	+	8	1879	c.1758C>A	c.(1756-1758)tgC>tgA	p.C586*	ZBTB49_ENST00000355834.3_Nonsense_Mutation_p.C464*|ZBTB49_ENST00000538529.1_Nonsense_Mutation_p.C69*	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C586*(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGATGCACTGCAAAGCTGGTG	0.562													6	56					2.0095e-06	2.28001e-06	1	0	A	4322503	C	A	4322503	4	1	166	1	0	0	0	0	0	1	0	0	17645	718	25	4	1784	4	ZBTB49	4	4322503	Nonsense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	2933573	4322503	186831773	21	29772											
DMP1	1758	broad.mit.edu	37	chr4	88580599	88580599	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagagcagtgagtcatCagaaggcagtaaagttagct	14	8	13	6	0	3	3	3	1	0	2	3	4	3	3	0	2	2	5	0	2	4	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr4:88580599C>A	ENST00000339673.6	+	5	251	c.152C>A	c.(151-153)tCa>tAa	p.S51*	DMP1_ENST00000282479.7_Intron|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	51					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGTGAGTCATCAGAAGGCAGT	0.348													33	68					2.68265e-12	3.26343e-12	1	0	A	88580599	C	A	88580599	4	1	166	1	0	0	0	0	0	1	0	0	4620	838	29	2	166	2	DMP1	4	88580599	Nonsense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	84258096	88580599	102573677	22	29773											
SPRY1	10252	broad.mit.edu	37	chr4	124323326	124323326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaagtgtggagaatgcactGctcccaggaccctaccatcc	10	7	10	14	0	0	1	0	0	0	1	2	3	2	2	4	2	3	3	4	2	3	1			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr4:124323326G>T	ENST00000394339.2	+	2	920	c.580G>T	c.(580-582)Gct>Tct	p.A194S	SPRY1_ENST00000339241.1_Missense_Mutation_p.A194S	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	194	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AGAATGCACTGCTCCCAGGAC	0.507													10	125					7.48243e-07	8.5721e-07	1	0	T	124323326	G	T	124323326	3	4	166	1	0	0	0	0	1	0	0	0	15195	1319	46	4	582	4	SPRY1	4	124323326	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	35742727	124323326	66830950	23	29774											
FBXW7	55294	broad.mit.edu	37	chr4	153247175	153247175	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctgtaatgaatagactcTattagtatgcccctgcaacg	12	12	7	10	1	1	2	0	1	1	1	1	2	1	2	3	0	4	3	3	0	8	6			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr4:153247175T>C	ENST00000281708.4	-	10	2856	c.1627A>G	c.(1627-1629)Aga>Gga	p.R543G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R463G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R543G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R543G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R367G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	543					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R543G(2)|p.R463G(1)|p.?(1)|p.R304G(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAATAGACTCTATTAGTATGC	0.408			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								64	103					0	0	0	0	C	153247175	T	C	153247175	3	2	166	1	0	0	0	0	1	0	0	0	5814	1530	53	5	508	5	FBXW7	4	153247175	Missense_Mutation	SNP	T	TCGA-CQ-A4CE-01A-11D-A25Y-08	28923849	153247175	37907101	24	29775											
FAT1	2195	broad.mit.edu	37	chr4	187524392	187524393	+	Frame_Shift_Ins	INS	-	-	TGTGT																															aaaactcagtctggctgtgcINStgtgtgttgacatcacactt																										TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr4:187524392_187524393insTGTGT	ENST00000441802.2	-	19	11496_11497	c.11287_11288insACACA	c.(11287-11289)cacfs	p.-3762fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTGGCTGTGCTGTGTGTTGAC	0.515										HNSCC(5;0.00058)			13	31	---	---	---	---					TGTGT	187524393	-	TGTGT	187524392	7	5	166	1	0	1	1	0	0	0	0	0	5734	797	28	0	2514	0	FAT1	4	187524392	Frame_Shift_Ins	INS	-	TCGA-CQ-A4CE-01A-11D-A25Y-08	34277217	187524392	3629884	25	29776											
IL31RA	133396	broad.mit.edu	37	chr5	55192224	55192224	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgaaaccagctgaggcGgatggaagaaggccagtgcg	11	5	16	9	2	0	3	0	2	0	1	1	5	1	5	3	4	3	1	3	4	3	0	rs141877896	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr5:55192224G>A	ENST00000396834.1	+	9	1258	c.762G>A	c.(760-762)gcG>gcA	p.A254A	IL31RA_ENST00000490985.1_Silent_p.A131A|IL31RA_ENST00000447346.2_Silent_p.A273A|IL31RA_ENST00000297015.3_Silent_p.A131A|IL31RA_ENST00000396836.2_Silent_p.A273A|IL31RA_ENST00000354961.4_Silent_p.A254A|IL31RA_ENST00000359040.5_Silent_p.A273A	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	241	Fibronectin type-III 3.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAGCTGAGGCGGATGGAAGAA	0.527													7	55					0	0	0	0	A	55192224	G	A	55192224	2	1	166	1	0	0	0	0	0	0	0	1	7744	1103	39	1		1	IL31RA	5	55192224	Silent	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08		55192224	125723036	26	29777											
RASGRF2	5924	broad.mit.edu	37	chr5	80381703	80381703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggaaaagcctggagtttgCcaaatcaaagctagaggaac	17	6	11	7	0	1	1	1	0	0	1	1	4	1	4	2	3	4	2	2	3	7	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr5:80381703C>T	ENST00000265080.4	+	8	1311	c.1244C>T	c.(1243-1245)gCc>gTc	p.A415V	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	415	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTGGAGTTTGCCAAATCAAAG	0.463													19	65					0	0	0	0	T	80381703	C	T	80381703	3	4	166	1	0	0	0	0	1	0	0	0	13155	739	26	4	1274	4	RASGRF2	5	80381703	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	25189479	80381703	100533557	27	29778											
PCDHA1	56147	broad.mit.edu	37	chr5	140167364	140167364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctattcgctggtggaaCggcgggtgggcgagcgcgcg	4	8	19	10	7	0	0	0	0	0	0	2	2	1	1	1	5	2	1	1	5	2	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr5:140167364C>T	ENST00000504120.2	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R497W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R497W	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAACGGCGGGTGGG	0.672													15	111					0	0	0	0	T	140167364	C	T	140167364	3	4	166	1	0	0	0	0	1	0	0	0	11590	527	19	1	1491	1	PCDHA1	5	140167364	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	59785661	140167364	40747896	28	29779											
PCDHA13	56136	broad.mit.edu	37	chr5	140262142	140262142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaccgcgaggagctgtgtGggcggagcgcggagtgcagc	6	5	20	10	6	0	0	0	0	0	0	1	5	0	3	1	4	4	2	1	4	0	0			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr5:140262142G>A	ENST00000289272.2	+	1	289	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G97R|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGTGTGGGCGGAGCGC	0.567													61	230					0	0	0	0	A	140262142	G	A	140262142	3	1	166	1	0	0	0	0	1	0	0	0	11594	1348	47	4	291	4	PCDHA13	5	140262142	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	94778	140262142	40653118	29	29780											
BPHL	670	broad.mit.edu	37	chr6	3140675	3140675	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccgccttgattgtgcaCggtgagaaggatcctctggt	6	11	13	11	2	1	2	0	2	1	1	2	4	2	3	4	3	2	1	4	3	1	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr6:3140675C>T	ENST00000380375.3	+	7	1313	c.669C>T	c.(667-669)caC>caT	p.H223H	BPHL_ENST00000380379.5_Silent_p.H240H|RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000434640.1_Silent_p.H223H|BPHL_ENST00000380368.2_3'UTR			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	240					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TGATTGTGCACGGTGAGAAGG	0.572													56	171					0	0	0	0	T	3140675	C	T	3140675	2	4	166	1	0	0	0	0	0	0	0	1	1497	535	19	1		1	BPHL	6	3140675	Silent	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08		3140675	167974392	30	29781											
DNAH8	1769	broad.mit.edu	37	chr6	38749052	38749053	+	Frame_Shift_Ins	INS	-	-	C																															tatcattctcagaaagatgaINScccccctcttgctcgcaaca																										TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr6:38749052_38749053insC	ENST00000359357.3	+	14	1765_1766	c.1511_1512insC	c.(1510-1512)gccfs	p.A504fs	DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.A721fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.A504fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGAAAGATGACCCCCCTCTTG	0.381													39	99	---	---	---	---					C	38749053	-	C	38749052	7	5	166	1	0	1	1	0	0	0	0	0	4643	275	10	0	1557	0	DNAH8	6	38749052	Frame_Shift_Ins	INS	-	TCGA-CQ-A4CE-01A-11D-A25Y-08	35608377	38749052	132366015	31	29782											
PHIP	55023	broad.mit.edu	37	chr6	79657436	79657437	+	Frame_Shift_Ins	INS	-	-	A																															actcataattcccagcctctINSaaagtttctctaacggtagc																										TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr6:79657436_79657437insA	ENST00000275034.4	-	36	4276_4277	c.4109_4110insT	c.(4108-4110)tgafs	p.*1370fs	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1370	Bromo 2.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCCCAGCCTCTAAAGTTTCTCT	0.376													12	99	---	---	---	---					A	79657437	-	A	79657436	7	5	166	1	0	1	1	0	0	0	0	0	11914	1519	53	0	1375	0	PHIP	6	79657436	Frame_Shift_Ins	INS	-	TCGA-CQ-A4CE-01A-11D-A25Y-08	40908384	79657436	91457631	32	29783											
ALDH8A1	64577	broad.mit.edu	37	chr6	135263564	135263564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgactcccaccggggccCgcaccgtgtagtgcatgcag	7	5	12	17	4	0	0	0	0	0	0	1	1	1	0	5	2	2	4	5	2	1	1			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr6:135263564C>T	ENST00000265605.2	-	3	493	c.425G>A	c.(424-426)cGg>cAg	p.R142Q	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.R142Q|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.R142Q|RP11-349J5.2_ENST00000416448.2_RNA	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	142					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CACCGGGGCCCGCACCGTGTA	0.582													5	84					0	0	0	0	T	135263564	C	T	135263564	3	4	166	1	0	0	0	0	1	0	0	0	505	652	23	1	1058	1	ALDH8A1	6	135263564	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	55606128	135263564	35851503	33	29784											
WBSCR27	155368	broad.mit.edu	37	chr7	73256457	73256457	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgggcaggctcccacccTcctcctgggccatgctcctg	3	8	10	20	1	0	0	0	0	0	0	5	0	4	0	7	3	1	3	7	3	0	0			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr7:73256457T>C	ENST00000297873.4	-	2	63	c.14A>G	c.(13-15)gAg>gGg	p.E5G		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	5										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GCTCCCACCCTCCTCCTGGGC	0.677													6	51					0	0	0	0	C	73256457	T	C	73256457	3	2	166	1	0	0	0	0	1	0	0	0	17362	1551	54	5	743	5	WBSCR27	7	73256457	Missense_Mutation	SNP	T	TCGA-CQ-A4CE-01A-11D-A25Y-08		73256457	85882206	34	29785											
TECPR1	25851	broad.mit.edu	37	chr7	97852365	97852365	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgtcgctgacggcccaGagggcgatgctgtgcccact	5	8	13	15	3	0	2	0	1	0	1	1	3	0	2	3	2	2	2	3	2	0	1			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr7:97852365G>T	ENST00000447648.2	-	21	3164	c.2865C>A	c.(2863-2865)ctC>ctA	p.L955L	TECPR1_ENST00000379795.3_Silent_p.L957L|TECPR1_ENST00000479975.1_5'UTR			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	955						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGACGGCCCAGAGGGCGATGC	0.677													4	12					0.00909568	0.00975718	1	0	T	97852365	G	T	97852365	2	4	166	1	0	0	0	0	0	0	0	1	15837	929	33	2		2	TECPR1	7	97852365	Silent	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	24595908	97852365	61286298	35	29786											
ZAN	7455	broad.mit.edu	37	chr7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-																															cctccaaagtttttcttttcTtgtttgtttgttttttgaga																								rs71973809		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr7:100384030_100384033delTTGT	ENST00000542585.1	+	0	7124				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505													2	4	---	---	---	---					-	100384033	TTGT	-	100384030	6	5	166	0	1	1	0	1	0	0	0	0	17609	1624	56	0		0	ZAN	7	100384030	RNA	DEL	TTGT	TCGA-CQ-A4CE-01A-11D-A25Y-08	2531665	100384030	58754633	36	29787											
OR9A4	130075	broad.mit.edu	37	chr7	141618705	141618705	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattactctagtgccactgaAttttatctccttggcttccc	8	16	5	12	0	2	1	0	1	2	0	4	1	3	1	3	1	2	1	3	1	5	6			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr7:141618705A>T	ENST00000548136.1	+	1	89	c.30A>T	c.(28-30)gaA>gaT	p.E10D	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GTGCCACTGAATTTTATCTCC	0.373													48	218					0	0	0	0	T	141618705	A	T	141618705	3	4	166	1	0	0	0	0	1	0	0	0	11320	98	4	5	32	5	OR9A4	7	141618705	Missense_Mutation	SNP	A	TCGA-CQ-A4CE-01A-11D-A25Y-08	41234675	141618705	17519958	37	29788											
SSPO	23145	broad.mit.edu	37	chr7	149525064	149525064	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgctggcaccttgggcGtccccacctggtgagacacc	6	7	13	15	2	0	1	0	1	0	1	1	3	1	1	5	3	1	2	5	3	0	1			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr7:149525064G>A	ENST00000378016.2	+	0	14975							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACCTTGGGCGTCCCCACCTG	0.667													4	37					0	0	0	0	A	149525064	G	A	149525064	1	1	166	0	1	0	0	0	0	0	0	0	15279	1145	40	1		1	SSPO	7	149525064	RNA	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	7906359	149525064	9613599	38	29789											
ZNF16	7564	broad.mit.edu	37	chr8	146157911	146157911	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgatatttctgcctgtgAttccaaatcttcatgaatgt	9	18	6	8	0	4	3	1	3	3	0	5	3	5	3	2	0	1	0	2	0	3	5			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr8:146157911A>G	ENST00000276816.4	-	4	448	c.262T>C	c.(262-264)Tca>Cca	p.S88P	ZNF16_ENST00000394909.2_Missense_Mutation_p.S88P	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCTGCCTGTGATTCCAAATCT	0.428													31	154					0	0	0	0	G	146157911	A	G	146157911	3	3	166	1	0	0	0	0	1	0	0	0	17833	333	12	5	1790	5	ZNF16	8	146157911	Missense_Mutation	SNP	A	TCGA-CQ-A4CE-01A-11D-A25Y-08		146157911	206111	39	29790											
POLR1E	64425	broad.mit.edu	37	chr9	37486603	37486603	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgccatccccattctgAcactccctcccagtgacagt	7	11	5	18	0	1	2	0	2	1	0	5	2	5	2	6	0	1	0	6	0	0	2	rs1571234	by1000genomes	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr9:37486603A>G	ENST00000377792.3	+	1	454	c.166A>G	c.(166-168)Aca>Gca	p.T56A	POLR1E_ENST00000442009.2_Intron|POLR1E_ENST00000377798.4_Intron			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	56				T -> A (in Ref. 1; BAC03629).	rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCCCATTCTGACACTCCCTCC	0.562													6	51					0	0	0	0	G	37486603	A	G	37486603	3	3	166	1	0	0	0	0	1	0	0	0	12285	290	10	5		5	POLR1E	9	37486603	Missense_Mutation	SNP	A	TCGA-CQ-A4CE-01A-11D-A25Y-08		37486603	103726828	40	29791											
ANXA1	301	broad.mit.edu	37	chr9	75777732	75777732	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccaaagacataacctcAgacacatctggagattttcg	13	9	8	11	1	2	3	1	0	1	3	3	4	2	3	2	2	1	0	2	2	2	3			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr9:75777732A>G	ENST00000376911.1	+	6	1392	c.510A>G	c.(508-510)tcA>tcG	p.S170S	ANXA1_ENST00000257497.6_Silent_p.S170S			P04083	ANXA1_HUMAN	annexin A1	170					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	ACATAACCTCAGACACATCTG	0.328													5	43					0	0	0	0	G	75777732	A	G	75777732	2	3	166	1	0	0	0	0	0	0	0	1	713	175	7	5		5	ANXA1	9	75777732	Silent	SNP	A	TCGA-CQ-A4CE-01A-11D-A25Y-08	38291129	75777732	65435699	41	29792											
CDK20	23552	broad.mit.edu	37	chr9	90584223	90584223	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcatgggcacctgctcCttaaaggagatcttgttgta	9	11	13	8	0	1	1	0	0	1	1	2	2	2	1	2	4	1	5	2	4	3	4			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr9:90584223C>G	ENST00000375883.3	-	6	972	c.666G>C	c.(664-666)aaG>aaC	p.K222N	CDK20_ENST00000605159.1_Missense_Mutation_p.K222N|CDK20_ENST00000325303.8_Missense_Mutation_p.K243N|CDK20_ENST00000375871.4_Missense_Mutation_p.R181T|CDK20_ENST00000336654.5_Missense_Mutation_p.K235N	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	243	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						GCACCTGCTCCTTAAAGGAGA	0.582													36	155					0	0	0	0	G	90584223	C	G	90584223	3	3	166	1	0	0	0	0	1	0	0	0	3166	681	24	4	319	4	CDK20	9	90584223	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	14806491	90584223	50629208	42	29793											
USP54	159195	broad.mit.edu	37	chr10	75331243	75331243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaagctgcctaaagctaCgtcggaagatatccaagtgc	12	10	10	9	2	0	1	0	0	0	1	2	2	1	2	2	1	5	3	2	1	7	5			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr10:75331243C>T	ENST00000339859.4	-	3	276	c.176G>A	c.(175-177)cGt>cAt	p.R59H	USP54_ENST00000408019.1_Missense_Mutation_p.R59H|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.R59H|USP54_ENST00000319786.7_Missense_Mutation_p.R59H			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	59					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCTAAAGCTACGTCGGAAGAT	0.363													9	80					0	0	0	0	T	75331243	C	T	75331243	3	4	166	1	0	0	0	0	1	0	0	0	17181	536	19	1	4962	1	USP54	10	75331243	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08		75331243	60203504	43	29794											
SORCS3	22986	broad.mit.edu	37	chr10	107022210	107022210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtgactttacggagcctGaggagctgctggacaaagag	11	8	14	8	1	1	3	1	2	0	1	1	6	1	6	1	3	4	2	1	3	2	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr10:107022210G>A	ENST00000369701.3	+	26	3792	c.3565G>A	c.(3565-3567)Gag>Aag	p.E1189K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1189						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TACGGAGCCTGAGGAGCTGCT	0.532													4	58					0	0	0	0	A	107022210	G	A	107022210	3	1	166	1	0	0	0	0	1	0	0	0	15020	1291	45	2	3667	2	SORCS3	10	107022210	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	31690967	107022210	28512537	44	29795											
KCNK7	10089	broad.mit.edu	37	chr11	65360664	65360664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcagcatggccaagaGtcctagaagcaagtaacctg	13	6	11	11	0	0	2	0	0	0	2	1	2	1	2	4	1	5	4	4	1	5	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr11:65360664G>A	ENST00000340313.4	-	3	959	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	246						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						ATGGCCAAGAGTCCTAGAAGC	0.627													17	27					0	0	0	0	A	65360664	G	A	65360664	3	1	166	1	0	0	0	0	1	0	0	0	8124	1029	36	4	191	4	KCNK7	11	65360664	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08		65360664	69645852	45	29796											
FAT3	120114	broad.mit.edu	37	chr11	92615993	92615993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctccttcctctgcaactGcacgccgggctacgtgggcc	4	8	12	17	4	1	0	0	0	1	0	3	0	3	0	4	3	4	4	4	3	2	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr11:92615993G>T	ENST00000298047.6	+	23	12388	c.12371G>T	c.(12370-12372)tGc>tTc	p.C4124F	FAT3_ENST00000409404.2_Missense_Mutation_p.C4124F|FAT3_ENST00000533797.1_Missense_Mutation_p.C459F|FAT3_ENST00000525166.1_Missense_Mutation_p.C3974F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4124	EGF-like 4; calcium-binding (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCTGCAACTGCACGCCGGGC	0.632										TCGA Ovarian(4;0.039)			8	19					0.0381472	0.0401908	1	0	T	92615993	G	T	92615993	3	4	166	1	0	0	0	0	1	0	0	0	5736	1319	46	4	12461	4	FAT3	11	92615993	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	27255329	92615993	42390523	46	29797											
GPR83	10888	broad.mit.edu	37	chr11	94113654	94113654	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctggacaggaggaggacGtagcagttgagggggaacca	11	6	18	6	1	0	1	0	1	0	0	0	6	0	6	1	6	3	4	1	6	2	3			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr11:94113654G>A	ENST00000243673.2	-	4	1104	c.933C>T	c.(931-933)taC>taT	p.Y311Y	GPR83_ENST00000539203.2_Silent_p.Y269Y	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	311						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGAGGAGGACGTAGCAGTTGA	0.527													25	95					0	0	0	0	A	94113654	G	A	94113654	2	1	166	1	0	0	0	0	0	0	0	1	6762	1140	40	1		1	GPR83	11	94113654	Silent	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	1497661	94113654	40892862	47	29798											
CNTN5	53942	broad.mit.edu	37	chr11	99690434	99690434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacccagctggctaggggCagctcagaattattattccc	9	11	9	12	0	2	1	2	0	0	1	3	1	3	1	2	3	2	4	2	3	4	5			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr11:99690434C>A	ENST00000524871.1	+	4	505	c.215C>A	c.(214-216)gCa>gAa	p.A72E	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.A72E|CNTN5_ENST00000528682.1_Missense_Mutation_p.A72E|CNTN5_ENST00000279463.3_Missense_Mutation_p.A72E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	72					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGCTAGGGGCAGCTCAGAAT	0.433													7	68					0.0293803	0.0312332	1	0	A	99690434	C	A	99690434	3	1	166	1	0	0	0	0	1	0	0	0	3674	710	25	4	221	4	CNTN5	11	99690434	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	5576780	99690434	35316082	48	29799											
CACNA1C	775	broad.mit.edu	37	chr12	2778131	2778131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaacatgcctctgaacagCgacgggacagtcatgttcaa	13	8	10	10	2	3	2	2	2	1	0	3	4	3	3	1	1	4	1	1	1	3	1			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr12:2778131C>T	ENST00000399655.1	+	38	4921	c.4656C>T	c.(4654-4656)agC>agT	p.S1552S	CACNA1C_ENST00000399603.1_Silent_p.S1552S|CACNA1C_ENST00000399629.1_Silent_p.S1569S|CACNA1C_ENST00000399641.1_Silent_p.S1552S|CACNA1C_ENST00000399634.1_Silent_p.S1552S|CACNA1C_ENST00000399617.1_Silent_p.S1552S|CACNA1C_ENST00000399638.1_Silent_p.S1580S|CACNA1C_ENST00000399597.1_Silent_p.S1552S|CACNA1C_ENST00000406454.3_Silent_p.S1552S|CACNA1C_ENST00000399595.1_Silent_p.S1541S|CACNA1C_ENST00000399637.1_Silent_p.S1552S|CACNA1C_ENST00000399649.1_Silent_p.S1539S|CACNA1C_ENST00000335762.5_Silent_p.S1577S|CACNA1C_ENST00000402845.3_Silent_p.S1552S|CACNA1C_ENST00000399591.1_Silent_p.S1541S|CACNA1C_ENST00000399606.1_Silent_p.S1572S|CACNA1C_ENST00000344100.3_Silent_p.S1574S|CACNA1C_ENST00000399601.1_Silent_p.S1552S|CACNA1C_ENST00000327702.7_Silent_p.S1552S|CACNA1C_ENST00000399644.1_Silent_p.S1552S|CACNA1C_ENST00000347598.4_Silent_p.S1600S|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399621.1_Silent_p.S1552S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1600					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTCTGAACAGCGACGGGACAG	0.592													8	119					0	0	0	0	T	2778131	C	T	2778131	2	4	166	1	0	0	0	0	0	0	0	1	2565	767	27	1		1	CACNA1C	12	2778131	Silent	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08		2778131	131073764	49	29800											
TAS2R14	50840	broad.mit.edu	37	chr12	11091149	11091149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttggtgctggcgtctcCggatattttgacagtgtgct	4	15	14	8	2	1	1	0	1	1	0	2	2	1	2	1	4	2	3	1	4	1	4			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr12:11091149C>T	ENST00000537503.1	-	1	713	c.658G>A	c.(658-660)Gga>Aga	p.G220R	TAS2R14_ENST00000381852.4_5'UTR|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	220					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CTGGCGTCTCCGGATATTTTG	0.428													8	98					0	0	0	0	T	11091149	C	T	11091149	3	4	166	1	0	0	0	0	1	0	0	0	15659	661	23	1	298	1	TAS2R14	12	11091149	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	8313018	11091149	122760746	50	29801											
C12orf56	115749	broad.mit.edu	37	chr12	64664467	64664467	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagacccctcaccacttGtttcacaatactggccacaa	13	9	5	14	0	2	2	2	1	0	1	2	2	2	2	4	1	1	1	4	1	4	3			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr12:64664467G>C	ENST00000543942.2	-	12	2238	c.1612C>G	c.(1612-1614)Caa>Gaa	p.Q538E	C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.Q378E	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	541										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CTCACCACTTGTTTCACAATA	0.453													17	50					0	0	0	0	C	64664467	G	C	64664467	3	2	166	1	0	0	0	0	1	0	0	0	1712	1386	48	4	264	4	C12orf56	12	64664467	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	53573318	64664467	69187428	51	29802											
ANKS1B	56899	broad.mit.edu	37	chr12	100200390	100200390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctatttctaattgtcGggtcagtgagctcttctagg	6	16	11	8	1	4	1	1	1	3	0	5	1	4	1	0	2	2	3	0	2	3	7			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr12:100200390G>A	ENST00000547776.2	-	4	460	c.461C>T	c.(460-462)cCg>cTg	p.P154L	ANKS1B_ENST00000329257.7_Missense_Mutation_p.P154L|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	154						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCTAATTGTCGGGTCAGTGAG	0.438													9	49					0	0	0	0	A	100200390	G	A	100200390	3	1	166	1	0	0	0	0	1	0	0	0	688	1116	39	1	3665	1	ANKS1B	12	100200390	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	35535923	100200390	33651505	52	29803											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37678603	37678603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcaaagcgcagcccaCgacagtagttcaagtacatg	12	8	8	13	2	2	0	2	0	0	0	3	1	3	0	2	0	3	4	2	0	4	4			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr13:37678603C>T	ENST00000379800.3	-	1	1200	c.791G>A	c.(790-792)cGt>cAt	p.R264H		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	264	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GCGCAGCCCACGACAGTAGTT	0.428													11	127					0	0	0	0	T	37678603	C	T	37678603	3	4	166	1	0	0	0	0	1	0	0	0	3983	536	19	1	226	1	CSNK1A1L	13	37678603	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08		37678603	77491275	53	29804											
COL4A1	1282	broad.mit.edu	37	chr13	110813613	110813613	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgggctcaggggtggacagCcagtacgagtagtcatttcg	9	9	15	8	2	2	0	2	0	0	0	3	2	2	1	1	4	2	3	1	4	2	3			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr13:110813613C>T	ENST00000375820.4	-	49	4687	c.4566G>A	c.(4564-4566)tgG>tgA	p.W1522*	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1522	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGTGGACAGCCAGTACGAGT	0.507													6	58					0	0	0	0	T	110813613	C	T	110813613	4	4	166	1	0	0	0	0	0	1	0	0	3719	740	26	4	459	4	COL4A1	13	110813613	Nonsense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	73135010	110813613	4356265	54	29805											
GRTP1	79774	broad.mit.edu	37	chr13	113979878	113979878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccctatgcccactggtgcCcgtcctgtgcaccctccggg	3	9	11	18	2	0	0	0	0	0	0	2	0	2	0	6	2	4	1	6	2	1	1			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr13:113979878C>T	ENST00000375430.4	-	7	1065	c.1019G>A	c.(1018-1020)gGg>gAg	p.G340E	GRTP1_ENST00000326039.3_Missense_Mutation_p.G262E|GRTP1_ENST00000375431.4_Intron			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	0						intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CCACTGGTGCCCGTCCTGTGC	0.701													6	14					0	0	0	0	T	113979878	C	T	113979878	3	4	166	1	0	0	0	0	1	0	0	0	6860	638	22	4		4	GRTP1	13	113979878	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	3166265	113979878	1190000	55	29806											
SEC23A	10484	broad.mit.edu	37	chr14	39545272	39545272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaatgaacatcatgataCgagcaccagtgttgggaaaa	16	7	9	9	1	1	2	1	2	0	0	1	4	1	3	2	1	3	2	2	1	5	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr14:39545272C>T	ENST00000537403.1	-	4	1450	c.248G>A	c.(247-249)cGt>cAt	p.R83H	SEC23A_ENST00000307712.6_Missense_Mutation_p.R285H|SEC23A_ENST00000536508.1_Missense_Mutation_p.R159H|SEC23A_ENST00000545328.2_Missense_Mutation_p.R256H			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	285					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CATCATGATACGAGCACCAGT	0.353													6	55					0	0	0	0	T	39545272	C	T	39545272	3	4	166	1	0	0	0	0	1	0	0	0	14078	536	19	1	1495	1	SEC23A	14	39545272	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08		39545272	67804268	56	29807											
MAP3K9	4293	broad.mit.edu	37	chr14	71267534	71267534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctattcaaaggtcctccacGagcaaactccatgaccaagc	13	8	6	14	1	2	1	1	1	1	0	5	2	5	1	4	1	3	1	4	1	4	2	rs148675299		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr14:71267534G>A	ENST00000554752.2	-	2	669	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	MAP3K9_ENST00000381250.4_Missense_Mutation_p.R224C|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R224C			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	224	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGTCCTCCACGAGCAAACTCC	0.512													25	102					0	0	0	0	A	71267534	G	A	71267534	3	1	166	1	0	0	0	0	1	0	0	0	9326	1058	37	1	2734	1	MAP3K9	14	71267534	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	31722262	71267534	36082006	57	29808											
FGF7	2252	broad.mit.edu	37	chr15	49776611	49776611	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacggaggggaaatgtttgtTgccttaaatcaaaaggggat	14	10	13	4	1	1	0	1	0	0	0	1	3	1	3	1	5	2	2	1	5	6	3			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr15:49776611T>G	ENST00000267843.4	+	4	1106	c.495T>G	c.(493-495)gtT>gtG	p.V165V	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	165					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	p.V165V(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	AAATGTTTGTTGCCTTAAATC	0.358													6	64					0	0	0	0	G	49776611	T	G	49776611	2	3	166	1	0	0	0	0	0	0	0	1	5902	1799	63	5		5	FGF7	15	49776611	Silent	SNP	T	TCGA-CQ-A4CE-01A-11D-A25Y-08		49776611	52754781	58	29809											
BAIAP3	8938	broad.mit.edu	37	chr16	1388940	1388940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagttctttgcccacatgCgcctcatgctgaagaagggg	8	10	13	10	1	2	2	1	1	1	1	2	3	2	3	2	3	3	2	2	3	2	2	rs139609870		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr16:1388940C>T	ENST00000324385.5	+	3	432	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	BAIAP3_ENST00000426824.3_Missense_Mutation_p.R57C|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R57C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R57C|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R57C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R57C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R57C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	92					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGCCCACATGCGCCTCATGCT	0.657													17	123					0	0	0	0	T	1388940	C	T	1388940	3	4	166	1	0	0	0	0	1	0	0	0	1308	768	27	1	284	1	BAIAP3	16	1388940	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08		1388940	88965813	59	29810											
AMDHD2	51005	broad.mit.edu	37	chr16	2579489	2579489	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcccagacttcgtggtgctCgacgactcccttcacgtcca	6	10	9	16	4	1	1	1	0	0	1	6	3	4	1	3	1	1	1	3	1	0	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr16:2579489C>T	ENST00000302956.4	+	10	1339	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	AMDHD2_ENST00000413459.3_Silent_p.L415L|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000293971.6_Silent_p.L385L			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	385					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TCGTGGTGCTCGACGACTCCC	0.657													29	115					0	0	0	0	T	2579489	C	T	2579489	2	4	166	1	0	0	0	0	0	0	0	1	568	871	31	1		1	AMDHD2	16	2579489	Silent	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	1190549	2579489	87775264	60	29811											
PPL	5493	broad.mit.edu	37	chr16	4935253	4935253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctcgtcctcatattggcGggtgagatcgctgacctccc	6	10	11	14	3	1	2	1	2	0	1	5	3	3	2	4	2	1	1	4	2	1	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr16:4935253G>A	ENST00000345988.2	-	22	3492	c.3403C>T	c.(3403-3405)Cgc>Tgc	p.R1135C	PPL_ENST00000590782.2_Missense_Mutation_p.R1133C	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1135					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCATATTGGCGGGTGAGATCG	0.617													21	74					0	0	0	0	A	4935253	G	A	4935253	3	1	166	1	0	0	0	0	1	0	0	0	12410	1116	39	1	1871	1	PPL	16	4935253	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	2355764	4935253	85419500	61	29812											
GPR139	124274	broad.mit.edu	37	chr16	20043132	20043132	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgcagtgtgagtttgcCggcgagatccaggggctact	7	11	15	8	2	0	3	0	2	0	1	1	4	1	3	2	3	3	3	2	3	1	3			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr16:20043132C>T	ENST00000570682.1	-	2	1287	c.987G>A	c.(985-987)ccG>ccA	p.P329P		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	329						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTGAGTTTGCCGGCGAGATCC	0.473													8	162					0	0	0	0	T	20043132	C	T	20043132	2	4	166	1	0	0	0	0	0	0	0	1	6697	639	23	1		1	GPR139	16	20043132	Silent	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	15107879	20043132	70311621	62	29813											
ADCY7	113	broad.mit.edu	37	chr16	50342585	50342585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaccccacagaggtgctGcccagctcgggggacgctct	6	8	13	14	2	1	1	0	0	1	1	2	2	1	2	3	3	4	4	3	3	1	1			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr16:50342585G>T	ENST00000394697.2	+	17	2283	c.1943G>T	c.(1942-1944)tGc>tTc	p.C648F	ADCY7_ENST00000566433.2_Missense_Mutation_p.C648F|ADCY7_ENST00000538642.1_Missense_Mutation_p.C648F|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000254235.3_Missense_Mutation_p.C648F			P51828	ADCY7_HUMAN	adenylate cyclase 7	648					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CAGAGGTGCTGCCCAGCTCGG	0.652													21	82					4.35082e-09	5.13396e-09	1	0	T	50342585	G	T	50342585	3	4	166	1	0	0	0	0	1	0	0	0	299	1319	46	4	2005	4	ADCY7	16	50342585	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	30299453	50342585	40012168	63	29814											
SALL1	6299	broad.mit.edu	37	chr16	51172806	51172806	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagacagaggcccagaCgggacgtgactggtgggggt	10	4	20	7	2	0	4	0	1	0	3	0	7	0	6	1	6	0	0	1	6	1	0			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr16:51172806C>T	ENST00000440970.1	-	2	3467	c.3036G>A	c.(3034-3036)ccG>ccA	p.P1012P	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.P1109P|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1109					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAGGCCCAGACGGGACGTGAC	0.562													16	56					0	0	0	0	T	51172806	C	T	51172806	2	4	166	1	0	0	0	0	0	0	0	1	13895	523	19	1		1	SALL1	16	51172806	Silent	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	830221	51172806	39181947	64	29815											
CNOT1	23019	broad.mit.edu	37	chr16	58608604	58608604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttttctggggcaagtcCgcccaaaatagaaggacacc	11	9	10	11	1	2	1	0	0	2	1	3	2	3	2	3	3	0	1	3	3	5	3	rs150528737		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr16:58608604C>T	ENST00000317147.5	-	16	2220	c.1888G>A	c.(1888-1890)Gga>Aga	p.G630R	CNOT1_ENST00000441024.2_Missense_Mutation_p.G630R|CNOT1_ENST00000569240.1_Missense_Mutation_p.G630R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	630					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.G630R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGGGCAAGTCCGCCCAAAATA	0.438													22	81					0	0	0	0	T	58608604	C	T	58608604	3	4	166	1	0	0	0	0	1	0	0	0	3647	661	23	1	5600	1	CNOT1	16	58608604	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	7435798	58608604	31746149	65	29816											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67860095	67860095	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgctggcagatgctggcTgagggcaagaacagcgacca	11	4	16	10	2	0	3	0	1	0	2	0	5	0	3	1	3	4	5	1	3	2	0			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr16:67860095T>G	ENST00000388833.3	+	10	1400	c.1023T>G	c.(1021-1023)gcT>gcG	p.A341A	TSNAXIP1_ENST00000415766.3_Silent_p.A326A|TSNAXIP1_ENST00000561639.1_Silent_p.A395A	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	341					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		AGATGCTGGCTGAGGGCAAGA	0.637													13	61					0	0	0	0	G	67860095	T	G	67860095	2	3	166	1	0	0	0	0	0	0	0	1	16727	1567	55	5		5	TSNAXIP1	16	67860095	Silent	SNP	T	TCGA-CQ-A4CE-01A-11D-A25Y-08	9251491	67860095	22494658	66	29817											
ZNF778	197320	broad.mit.edu	37	chr16	89294664	89294664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggaaagcctttgcttcCtcctcacaccttatcgaaca	9	12	7	13	1	1	0	1	0	0	0	4	2	3	1	4	1	3	1	4	1	3	3			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr16:89294664C>T	ENST00000433976.2	+	6	2216	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S	ZNF778_ENST00000306502.6_Silent_p.S586S|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CCTTTGCTTCCTCCTCACACC	0.493													7	83					0	0	0	0	T	89294664	C	T	89294664	2	4	166	1	0	0	0	0	0	0	0	1	18244	668	24	4		4	ZNF778	16	89294664	Silent	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	21434569	89294664	1060089	67	29818											
USP6	9098	broad.mit.edu	37	chr17	5042397	5042397	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcacacacccctccctctGggatcagcagactacaggcg	10	5	9	17	1	2	1	1	0	1	1	3	2	3	2	3	2	3	2	3	2	1	1			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr17:5042397G>T	ENST00000304328.5	+	14	2909	c.48G>T	c.(46-48)ctG>ctT	p.L16L	USP6_ENST00000250066.6_Intron|USP6_ENST00000574788.1_Intron|USP6_ENST00000332776.4_Intron			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	0					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCTCCCTCTGGGATCAGCAG	0.662			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								4	36					1	1	1	0	T	5042397	G	T	5042397	2	4	166	1	0	0	0	0	0	0	0	1	17182	1363	47	4		4	USP6	17	5042397	Silent	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08		5042397	76152813	68	29819											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	34					0	0	0	0	A	7578263	G	A	7578263	4	1	166	1	0	0	0	0	0	1	0	0	16476	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	2535866	7578263	73616947	69	29820											
FBXL20	84961	broad.mit.edu	37	chr17	37453402	37453402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgttgtctttgtacaccCatttagattcagtacttcaa	9	17	6	9	0	4	1	2	0	2	1	4	1	4	1	1	0	2	3	1	0	4	8			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr17:37453402C>G	ENST00000264658.6	-	6	636	c.376G>C	c.(376-378)Ggg>Cgg	p.G126R	FBXL20_ENST00000583610.1_Missense_Mutation_p.G126R|FBXL20_ENST00000577399.1_Missense_Mutation_p.G128R|FBXL20_ENST00000394294.3_Missense_Mutation_p.G126R	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	126						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TTTGTACACCCATTTAGATTC	0.368													5	50					0	0	0	0	G	37453402	C	G	37453402	3	3	166	1	0	0	0	0	1	0	0	0	5762	594	21	4	974	4	FBXL20	17	37453402	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	29875139	37453402	43741808	70	29821											
HDAC5	10014	broad.mit.edu	37	chr17	42158136	42158136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccaggagctgtacctcttCaggagccccagagcctggaa	9	6	12	14	0	2	1	1	0	1	1	2	4	2	4	5	3	4	2	5	3	2	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr17:42158136C>T	ENST00000225983.6	-	21	3048	c.2725G>A	c.(2725-2727)Gaa>Aaa	p.E909K	HDAC5_ENST00000336057.5_Missense_Mutation_p.E823K|HDAC5_ENST00000393622.2_Missense_Mutation_p.E908K|HDAC5_ENST00000586802.1_Missense_Mutation_p.E908K			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	908	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGTACCTCTTCAGGAGCCCCA	0.602													15	107					0	0	0	0	T	42158136	C	T	42158136	3	4	166	1	0	0	0	0	1	0	0	0	7060	835	29	2	674	2	HDAC5	17	42158136	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	4704734	42158136	39037074	71	29822											
HOXB3	3213	broad.mit.edu	37	chr17	46629806	46629806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccgaagagagcagccgCggcgttgtcgtagtaggtgg	7	7	17	10	5	0	1	0	0	0	1	2	3	1	1	3	3	2	4	3	3	3	3			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr17:46629806C>T	ENST00000470495.1	-	1	1478	c.31G>A	c.(31-33)Gcg>Acg	p.A11T	HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.A11T|HOXB3_ENST00000498678.1_Missense_Mutation_p.A11T|HOXB3_ENST00000476342.1_Missense_Mutation_p.A11T|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000485909.2_Intron			P14651	HXB3_HUMAN	homeobox B3	11					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AGAGCAGCCGCGGCGTTGTCG	0.622													12	42					0	0	0	0	T	46629806	C	T	46629806	3	4	166	1	0	0	0	0	1	0	0	0	7352	768	27	1	1272	1	HOXB3	17	46629806	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	4471670	46629806	34565404	72	29823											
CXXC1	30827	broad.mit.edu	37	chr18	47813190	47813190	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctcggacttgctgtcctcCccggcatctggaggctctgg	3	12	12	14	2	3	0	0	0	3	0	6	2	5	2	3	5	1	3	3	5	0	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr18:47813190C>T	ENST00000285106.6	-	2	756	c.42G>A	c.(40-42)ggG>ggA	p.G14G	CXXC1_ENST00000587396.1_5'UTR|CXXC1_ENST00000589940.1_Silent_p.G14G|CXXC1_ENST00000412036.2_Silent_p.G14G	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	14					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGCTGTCCTCCCCGGCATCTG	0.607													6	102					0	0	0	0	T	47813190	C	T	47813190	2	4	166	1	0	0	0	0	0	0	0	1	4129	610	22	4		4	CXXC1	18	47813190	Silent	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08		47813190	30264058	73	29824											
DSEL	92126	broad.mit.edu	37	chr18	65180278	65180278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtccacttaagccactgcGcacattctcccagttgacct	9	10	6	16	1	1	1	0	1	1	0	3	1	2	1	4	0	2	2	4	0	1	3			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr18:65180278G>A	ENST00000310045.7	-	2	3071	c.1598C>T	c.(1597-1599)gCg>gTg	p.A533V	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	523						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAGCCACTGCGCACATTCTCC	0.507													16	76					0	0	0	0	A	65180278	G	A	65180278	3	1	166	1	0	0	0	0	1	0	0	0	4811	1087	38	1	2074	1	DSEL	18	65180278	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	17367088	65180278	12896970	74	29825											
GADD45B	4616	broad.mit.edu	37	chr19	2477210	2477210	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccggccgagacccagggCaccaccgaggcccgagacct	9	1	14	17	4	0	2	0	0	0	2	0	6	0	2	7	3	1	1	7	3	0	0			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr19:2477210C>T	ENST00000215631.4	+	3	562	c.330C>T	c.(328-330)ggC>ggT	p.G110G	GADD45B_ENST00000587345.1_Silent_p.G110G	NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	110					activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress					cervix(2)|lung(1)|ovary(1)	4		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)		AGACCCAGGGCACCACCGAGG	0.672											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	43					0	0	0	0	T	2477210	C	T	2477210	2	4	166	1	0	0	0	0	0	0	0	1	6230	697	25	4		4	GADD45B	19	2477210	Silent	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08		2477210	56651773	75	29826											
C3	718	broad.mit.edu	37	chr19	6677918	6677918	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcacccaaagacaaccAtgctctcggtgaaggcgccg	10	5	13	13	3	1	2	0	1	1	1	2	2	1	2	3	4	2	2	3	4	3	0			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr19:6677918A>G	ENST00000245907.6	-	41	5059	c.4967T>C	c.(4966-4968)aTg>aCg	p.M1656T	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1656	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AAAGACAACCATGCTCTCGGT	0.557													23	54					0	0	0	0	G	6677918	A	G	6677918	3	3	166	1	0	0	0	0	1	0	0	0	2224	217	8	5	28	5	C3	19	6677918	Missense_Mutation	SNP	A	TCGA-CQ-A4CE-01A-11D-A25Y-08	4200708	6677918	52451065	76	29827											
ZNF404	342908	broad.mit.edu	37	chr19	44377555	44377555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccacattctttacatttgtAgggtttcacaccatgatgaa	11	15	6	9	0	2	2	1	2	1	0	3	2	3	2	2	1	1	2	2	1	3	6			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr19:44377555A>G	ENST00000587539.1	-	3	810	c.811T>C	c.(811-813)Tac>Cac	p.Y271H	ZNF404_ENST00000324394.6_Missense_Mutation_p.Y269H	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TTACATTTGTAGGGTTTCACA	0.358													16	75					0	0	0	0	G	44377555	A	G	44377555	3	3	166	1	0	0	0	0	1	0	0	0	17981	420	15	5	851	5	ZNF404	19	44377555	Missense_Mutation	SNP	A	TCGA-CQ-A4CE-01A-11D-A25Y-08	37699637	44377555	14751428	77	29828											
PRMT1	3276	broad.mit.edu	37	chr19	50188182	50188182	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctgcctccccagggtGggagaacgtgtatggcttcg	5	9	14	13	2	0	1	0	0	0	1	2	2	1	1	5	3	3	2	5	3	2	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr19:50188182G>A	ENST00000532489.1	+	8	1015	c.509G>A	c.(508-510)tGg>tAg	p.W170*	PRMT1_ENST00000391851.4_Nonsense_Mutation_p.W198*|PRMT1_ENST00000454376.2_Nonsense_Mutation_p.W216*			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	197						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		TCCCCAGGGTGGGAGAACGTG	0.642											OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	61					0	0	0	0	A	50188182	G	A	50188182	4	1	166	1	0	0	0	0	0	1	0	0	12615	1357	47	4	677	4	PRMT1	19	50188182	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	5810627	50188182	8940801	78	29829											
ZNF813	126017	broad.mit.edu	37	chr19	53994426	53994426	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagtttcaaatcaaacCttaaaagacataggagaatt	17	12	5	7	0	3	2	3	0	0	2	3	3	3	2	1	1	1	1	1	1	6	5			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr19:53994426C>G	ENST00000396403.4	+	4	1068	c.940C>G	c.(940-942)Ctt>Gtt	p.L314V	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CAAATCAAACCTTAAAAGACA	0.398													9	171					0	0	0	0	G	53994426	C	G	53994426	3	3	166	1	0	0	0	0	1	0	0	0	18268	681	24	4	950	4	ZNF813	19	53994426	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	3806244	53994426	5134557	79	29830											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596344	58596344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctccccgcactcgccgcagGcatagggcttcccgcgggac	5	5	12	19	5	0	0	0	0	0	0	3	1	2	1	5	3	0	4	5	3	1	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr19:58596344G>A	ENST00000240727.6	-	7	1640	c.1241C>T	c.(1240-1242)gCc>gTc	p.A414V	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A414V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A278V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A470V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	414					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTCGCCGCAGGCATAGGGCTT	0.726													3	19					0	0	0	0	A	58596344	G	A	58596344	3	1	166	1	0	0	0	0	1	0	0	0	18322	1203	42	4	295	4	ZSCAN18	19	58596344	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	4601918	58596344	532639	80	29831											
SIRPB1	10326	broad.mit.edu	37	chr20	1559260	1559260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggacgtcatagcacagcGcagagtggccgactctccag	10	5	13	13	3	2	1	1	0	1	1	3	3	2	2	2	2	2	2	2	2	1	1	rs143134459		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr20:1559260G>A	ENST00000381605.4	-	2	221	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	SIRPB1_ENST00000262929.5_Missense_Mutation_p.R52C|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R53C|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R53C	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	53	Ig-like V-type.		R -> H (in dbSNP:rs2746603).		cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ATAGCACAGCGCAGAGTGGCC	0.542													35	129					0	0	0	0	A	1559260	G	A	1559260	3	1	166	1	0	0	0	0	1	0	0	0	14421	1087	38	1	1055	1	SIRPB1	20	1559260	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08		1559260	61466260	81	29832											
PCSK2	5126	broad.mit.edu	37	chr20	17341192	17341192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagatcaatactgggcaaGctgatggcactcctggcctt	10	9	10	12	0	1	2	1	1	0	1	2	2	2	2	3	3	2	3	3	3	3	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr20:17341192G>T	ENST00000262545.2	+	4	727	c.412G>T	c.(412-414)Gct>Tct	p.A138S	PCSK2_ENST00000536609.1_Missense_Mutation_p.A103S|PCSK2_ENST00000377899.1_Missense_Mutation_p.A119S	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	138	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACTGGGCAAGCTGATGGCAC	0.428													4	10					0.00024832	0.000279064	1	0	T	17341192	G	T	17341192	3	4	166	1	0	0	0	0	1	0	0	0	11672	971	34	4	426	4	PCSK2	20	17341192	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	15781932	17341192	45684328	82	29833											
BPI	671	broad.mit.edu	37	chr20	36952427	36952427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaggctggggtcttgaaGatgacccttagagatgacat	12	9	13	7	0	1	6	0	3	1	3	1	7	1	6	1	3	0	1	1	3	3	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr20:36952427G>T	ENST00000262865.4	+	8	1013	c.924G>T	c.(922-924)aaG>aaT	p.K308N	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	308					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GGGTCTTGAAGATGACCCTTA	0.542													11	37					0.000673444	0.000742677	1	0	T	36952427	G	T	36952427	3	4	166	1	0	0	0	0	1	0	0	0	1498	933	33	2	954	2	BPI	20	36952427	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	19611235	36952427	26073093	83	29834											
COL9A3	1299	broad.mit.edu	37	chr20	61468572	61468572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgctcgaggaccccctGgataccgcggtcccactggg	5	6	14	16	4	0	0	0	0	0	0	2	3	1	2	4	5	1	1	4	5	1	1			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr20:61468572G>A	ENST00000343916.3	+	30	1744	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	581	Triple-helical region 2 (COL2).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AGGACCCCCTGGATACCGCGG	0.672													19	153					0	0	0	0	A	61468572	G	A	61468572	3	1	166	1	0	0	0	0	1	0	0	0	3739	1349	47	4	1859	4	COL9A3	20	61468572	Missense_Mutation	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08	24516145	61468572	1556948	84	29835											
AGPAT3	56894	broad.mit.edu	37	chr21	45389028	45389028	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcgctaagaaggagctGctctacgtgcccctcatcgg	7	9	11	14	3	2	1	1	0	1	1	5	2	3	2	3	2	4	3	3	2	3	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chr21:45389028G>T	ENST00000398063.2	+	4	870	c.378G>T	c.(376-378)ctG>ctT	p.L126L	AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Silent_p.L126L|AGPAT3_ENST00000291572.8_Silent_p.L126L|AGPAT3_ENST00000398061.1_Silent_p.L126L|AGPAT3_ENST00000398058.1_Silent_p.L126L|AGPAT3_ENST00000546158.1_Silent_p.L126L	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	126					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		AGAAGGAGCTGCTCTACGTGC	0.627													9	62					0.00448238	0.00485249	1	0	T	45389028	G	T	45389028	2	4	166	1	0	0	0	0	0	0	0	1	388	1306	46	4		4	AGPAT3	21	45389028	Silent	SNP	G	TCGA-CQ-A4CE-01A-11D-A25Y-08		45389028	2740867	85	29836											
DDX3X	1654	broad.mit.edu	37	chrX	41206679	41206679	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtggcggaggtggccaCggtagcagcagaggatttgg	8	6	19	8	3	0	1	0	0	0	1	0	3	0	3	1	7	2	4	1	7	1	2			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chrX:41206679C>T	ENST00000399959.2	+	16	2739	c.1884C>T	c.(1882-1884)caC>caT	p.H628H	DDX3X_ENST00000457138.2_Silent_p.H612H|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	628	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						gaggtggccacggtagcagca	0.512										HNSCC(61;0.18)			22	100					0	0	0	0	T	41206679	C	T	41206679	2	4	166	1	0	0	0	0	0	0	0	1	4390	535	19	1		1	DDX3X	23	41206679	Silent	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08		41206679	114063881	86	29837											
PNMA5	114824	broad.mit.edu	37	chrX	152159177	152159177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcatctcgaatgagcttCattaactccagaaaattggg	12	13	7	9	1	4	2	2	1	2	1	6	3	5	2	1	1	2	1	1	1	4	4			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812B-4120-4EC8-ADDF-84F32C91740A	C02303BF-9254-4DF8-9257-7CAEBBCF1D2A	g.chrX:152159177C>T	ENST00000439251.1	-	2	1404	c.966G>A	c.(964-966)atG>atA	p.M322I	PNMA5_ENST00000361887.5_Missense_Mutation_p.M322I|PNMA5_ENST00000452693.1_Missense_Mutation_p.M322I|PNMA5_ENST00000535214.1_Missense_Mutation_p.M322I	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	322					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GAATGAGCTTCATTAACTCCA	0.557													11	117					0	0	0	0	T	152159177	C	T	152159177	3	4	166	1	0	0	0	0	1	0	0	0	12228	826	29	2	384	2	PNMA5	23	152159177	Missense_Mutation	SNP	C	TCGA-CQ-A4CE-01A-11D-A25Y-08	110952498	152159177	3111383	87	29838											
PTCHD2	57540	broad.mit.edu	37	chr1	11561627	11561627	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggacacttccgcggctcAaaagcccacagccaatcgga	11	4	10	16	4	1	0	1	0	0	0	3	2	2	2	4	3	2	1	4	3	3	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr1:11561627A>C	ENST00000294484.6	+	2	716	c.578A>C	c.(577-579)cAa>cCa	p.Q193P	PTCHD2_ENST00000389575.3_Missense_Mutation_p.Q193P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	193					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCCGCGGCTCAAAAGCCCACA	0.697													10	11					0	0	0	0	C	11561627	A	C	11561627	3	2	167	1	0	0	0	0	1	0	0	0	12812	130	5	5	580	5	PTCHD2	1	11561627	Missense_Mutation	SNP	A	TCGA-CQ-A4CG-01A-11D-A25Y-08		11561627	237688994	1	29839											
CAP1	10487	broad.mit.edu	37	chr1	40535481	40535481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaccccaaaccagcccaTcccccaaacgagccacaaag	16	2	4	19	1	0	0	0	0	0	0	1	1	1	0	7	0	5	0	7	0	5	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr1:40535481T>C	ENST00000372797.3	+	9	1489	c.928T>C	c.(928-930)Tcc>Ccc	p.S310P	CAP1_ENST00000372798.1_Missense_Mutation_p.S309P|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372802.1_Missense_Mutation_p.S309P|CAP1_ENST00000372792.2_Missense_Mutation_p.S310P|CAP1_ENST00000372805.3_Missense_Mutation_p.S310P|CAP1_ENST00000340450.3_Missense_Mutation_p.S309P	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	310					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACCAGCCCATCCCCCAAACG	0.522													9	46					0	0	0	0	C	40535481	T	C	40535481	3	2	167	1	0	0	0	0	1	0	0	0	2644	1435	50	5	958	5	CAP1	1	40535481	Missense_Mutation	SNP	T	TCGA-CQ-A4CG-01A-11D-A25Y-08	28973854	40535481	208715140	2	29840											
CTH	1491	broad.mit.edu	37	chr1	70887340	70887340	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaattactagaggcagcAattacaccagaaaccaaggt	18	7	7	9	0	1	2	1	0	0	2	1	2	1	2	2	2	4	2	2	2	7	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr1:70887340A>G	ENST00000411986.2	+	3	540	c.342A>G	c.(340-342)gcA>gcG	p.A114A	CTH_ENST00000464926.1_3'UTR|CTH_ENST00000370938.3_Silent_p.A146A|CTH_ENST00000346806.2_Silent_p.A146A	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	146					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TAGAGGCAGCAATTACACCAG	0.353													12	36					0	0	0	0	G	70887340	A	G	70887340	2	3	167	1	0	0	0	0	0	0	0	1	4041	117	5	5		5	CTH	1	70887340	Silent	SNP	A	TCGA-CQ-A4CG-01A-11D-A25Y-08	30351859	70887340	178363281	3	29841											
SLC16A1	6566	broad.mit.edu	37	chr1	113459887	113459887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacctctggggtccaacaaGgtccatcaatgtttcaaaca	13	9	8	11	0	3	0	2	0	1	0	5	1	5	0	3	3	3	1	3	3	5	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr1:113459887G>A	ENST00000538576.1	-	4	1972	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F	SLC16A1_ENST00000433570.4_Missense_Mutation_p.L381F|SLC16A1_ENST00000369626.3_Missense_Mutation_p.L381F	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	381					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	GGTCCAACAAGGTCCATCAAT	0.488													15	28					0	0	0	0	A	113459887	G	A	113459887	3	1	167	1	0	0	0	0	1	0	0	0	14490	1000	35	4	369	4	SLC16A1	1	113459887	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	42572547	113459887	135790734	4	29842											
FCGR1B	2210	broad.mit.edu	37	chr1	120930249	120930249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacctcaaggccagaggttCtccttccatgaagactctgc	10	9	8	14	0	3	3	1	1	2	2	5	3	4	3	4	2	1	1	4	2	2	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr1:120930249C>T	ENST00000369384.4	-	4	394	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	FCGR1B_ENST00000369383.4_Missense_Mutation_p.E26K|RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000472543.1_5'UTR|RP11-439A17.9_ENST00000457996.1_RNA	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	118	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		GCCAGAGGTTCTCCTTCCATG	0.463													45	114					0	0	0	0	T	120930249	C	T	120930249	3	4	167	1	0	0	0	0	1	0	0	0	5825	922	32	2	498	2	FCGR1B	1	120930249	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	7470362	120930249	128320372	5	29843											
KIF21B	23046	broad.mit.edu	37	chr1	200954026	200954026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgattactggtgagaCgagagaagacattgcggtca	11	9	14	7	2	2	4	1	2	1	3	2	7	2	4	0	3	2	1	0	3	2	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr1:200954026C>T	ENST00000332129.2	-	27	4080	c.3764G>A	c.(3763-3765)cGt>cAt	p.R1255H	KIF21B_ENST00000461742.2_Missense_Mutation_p.R1255H|KIF21B_ENST00000422435.2_Missense_Mutation_p.R1255H|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1255H	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1255					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACTGGTGAGACGAGAGAAGAC	0.622													22	24					0	0	0	0	T	200954026	C	T	200954026	3	4	167	1	0	0	0	0	1	0	0	0	8340	536	19	1	1142	1	KIF21B	1	200954026	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	80023777	200954026	48296595	6	29844											
PPFIA4	8497	broad.mit.edu	37	chr1	203012543	203012543	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatttgccaccttaaccCgggagctgagcatgtgtcgg	9	9	13	10	2	0	1	0	1	0	0	1	3	0	3	3	3	4	2	3	3	2	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr1:203012543C>A	ENST00000367240.2	+	3	780	c.253C>A	c.(253-255)Cgg>Agg	p.R85R	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Silent_p.R85R			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	0					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CACCTTAACCCGGGAGCTGAG	0.542													3	4					0.115264	0.117201	1	0	A	203012543	C	A	203012543	2	1	167	1	0	0	0	0	0	0	0	1	12383	667	23	3		3	PPFIA4	1	203012543	Silent	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	2058517	203012543	46238078	7	29845											
PPFIA4	8497	broad.mit.edu	37	chr1	203044811	203044811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttccgcggagaccctccCggcgggcttccgtgtgtcca	3	8	13	17	6	0	1	0	0	0	1	4	2	4	1	5	3	0	2	5	3	0	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr1:203044811C>T	ENST00000367240.2	+	28	3964	c.3437C>T	c.(3436-3438)cCg>cTg	p.P1146L	PPFIA4_ENST00000599966.1_Missense_Mutation_p.P652L|PPFIA4_ENST00000295706.4_Missense_Mutation_p.P652L|PPFIA4_ENST00000272198.6_Missense_Mutation_p.P661L|PPFIA4_ENST00000447715.2_Missense_Mutation_p.P1145L|PPFIA4_ENST00000414050.2_Missense_Mutation_p.P874L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	661					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GAGACCCTCCCGGCGGGCTTC	0.706													6	9					0	0	0	0	T	203044811	C	T	203044811	3	4	167	1	0	0	0	0	1	0	0	0	12383	652	23	1	2044	1	PPFIA4	1	203044811	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	32268	203044811	46205810	8	29846											
CR2	1380	broad.mit.edu	37	chr1	207649600	207649600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatagggtgtccacctcCgcctaagacccctaacggga	9	8	9	15	2	1	1	1	0	0	1	3	2	3	2	6	2	1	0	6	2	3	4			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr1:207649600C>T	ENST00000367057.3	+	15	2927	c.2738C>T	c.(2737-2739)cCg>cTg	p.P913L	CR2_ENST00000367058.3_Missense_Mutation_p.P854L|CR2_ENST00000367059.3_Intron|CR2_ENST00000458541.2_Missense_Mutation_p.P827L	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	854	Sushi 15.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGTCCACCTCCGCCTAAGACC	0.493													16	50					0	0	0	0	T	207649600	C	T	207649600	3	4	167	1	0	0	0	0	1	0	0	0	3872	652	23	1	2796	1	CR2	1	207649600	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	4604789	207649600	41601021	9	29847											
CNTNAP5	129684	broad.mit.edu	37	chr2	125285025	125285025	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacattgatctgtgtagcatCaaagacaggtaattattgtc	13	13	8	7	0	2	2	1	1	1	1	3	2	2	2	0	1	1	3	0	1	4	5			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr2:125285025C>G	ENST00000431078.1	+	10	2002	c.1638C>G	c.(1636-1638)atC>atG	p.I546M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	546	EGF-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGTGTAGCATCAAAGACAGGT	0.403													22	57					0	0	0	0	G	125285025	C	G	125285025	3	3	167	1	0	0	0	0	1	0	0	0	3680	816	29	2	1676	2	CNTNAP5	2	125285025	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08		125285025	117914348	10	29848											
LRP1B	53353	broad.mit.edu	37	chr2	141459290	141459290	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attctttcaagagtgctgacCtttctctcttactcggttaa	8	17	6	10	1	4	2	1	1	3	1	6	2	4	2	1	1	2	2	1	1	3	5			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr2:141459290C>A	ENST00000389484.3	-	40	7398	c.6427_splice	c.e40+1	p.G2143_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2143	EGF-like 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGTGCTGACCTTTCTCTCTT	0.348										TSP Lung(27;0.18)			42	21					7.63091e-17	9.32667e-17	1	0	A	141459290	C	A	141459290	5	1	167	1	0	0	0	0	0	0	1	0	9019	695	24	4	7580	4	LRP1B	2	141459290	Splice_Site	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	16174265	141459290	101740083	11	29849											
NFE2L2	4780	broad.mit.edu	37	chr2	178098975	178098975	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatctatatcttgcctccAaagtatgtcaatcaaatcca	15	12	4	10	0	4	1	2	0	2	1	6	1	6	1	3	0	1	1	3	0	7	4			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr2:178098975A>G	ENST00000397062.3	-	2	624	c.70T>C	c.(70-72)Tgg>Cgg	p.W24R	NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8R|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8R|NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8R|NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8R	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	24					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.W24R(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCTTGCCTCCAAAGTATGTCA	0.348			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			38	12					0	0	0	0	G	178098975	A	G	178098975	3	3	167	1	0	0	0	0	1	0	0	0	10438	130	5	5	1763	5	NFE2L2	2	178098975	Missense_Mutation	SNP	A	TCGA-CQ-A4CG-01A-11D-A25Y-08	36639685	178098975	65100398	12	29850											
DNAH1	25981	broad.mit.edu	37	chr3	52417474	52417474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcccaatctgtatactGcggacgagcaggaccagatc	12	8	9	12	2	1	1	0	0	1	1	3	4	2	3	2	2	3	2	2	2	3	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr3:52417474G>A	ENST00000420323.2	+	51	8275	c.8014G>A	c.(8014-8016)Gcg>Acg	p.A2672T		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2672	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTGTATACTGCGGACGAGCA	0.557													13	25					0	0	0	0	A	52417474	G	A	52417474	3	1	167	1	0	0	0	0	1	0	0	0	4634	1319	46	4	8212	4	DNAH1	3	52417474	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08		52417474	145604956	13	29851											
KALRN	8997	broad.mit.edu	37	chr3	124157746	124157746	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attcactaggtgtgtagtgtCctggagagcttagagcaaga	11	11	13	6	0	1	3	1	0	0	3	2	4	2	3	1	2	2	3	1	2	4	4			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr3:124157746C>G	ENST00000360013.3	+	18	3181	c.3054C>G	c.(3052-3054)gtC>gtG	p.V1018V	KALRN_ENST00000240874.3_Silent_p.V1018V|KALRN_ENST00000460856.1_Silent_p.V1009V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1018					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGTGTAGTGTCCTGGAGAGCT	0.458													10	28					0	0	0	0	G	124157746	C	G	124157746	2	3	167	1	0	0	0	0	0	0	0	1	8028	842	30	2		2	KALRN	3	124157746	Silent	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	71740272	124157746	73864684	14	29852											
SI	6476	broad.mit.edu	37	chr3	164780178	164780178	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgttgatactgttgaactActtgttctggtgtatctcct	6	18	8	9	0	2	2	0	2	2	0	3	2	2	2	2	1	3	4	2	1	4	7			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr3:164780178A>G	ENST00000264382.3	-	9	1063	c.1001T>C	c.(1000-1002)gTa>gCa	p.V334A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	334	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTGTTGAACTACTTGTTCTGG	0.333										HNSCC(35;0.089)			18	63					0	0	0	0	G	164780178	A	G	164780178	3	3	167	1	0	0	0	0	1	0	0	0	14385	391	14	5	4642	5	SI	3	164780178	Missense_Mutation	SNP	A	TCGA-CQ-A4CG-01A-11D-A25Y-08	40622432	164780178	33242252	15	29853											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			59	33					0	0	0	0	A	178936091	G	A	178936091	3	1	167	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	14155913	178936091	19086339	16	29854											
PROM1	8842	broad.mit.edu	37	chr4	16000015	16000015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaatattgatacctgtaaaCttgttcaaaagtgagcttca	15	13	6	7	0	2	2	2	2	0	0	2	2	2	2	1	0	3	3	1	0	7	7			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr4:16000015C>A	ENST00000505450.1	-	14	2260	c.1648G>T	c.(1648-1650)Gtt>Ttt	p.V550F	PROM1_ENST00000540805.1_Missense_Mutation_p.V559F|PROM1_ENST00000447510.2_Missense_Mutation_p.V559F|PROM1_ENST00000539194.1_Missense_Mutation_p.V559F|PROM1_ENST00000508167.1_Missense_Mutation_p.V550F|PROM1_ENST00000510224.1_Missense_Mutation_p.V559F|PROM1_ENST00000543373.1_Missense_Mutation_p.V550F	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	559					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TACCTGTAAACTTGTTCAAAA	0.294													7	13					0.000157383	0.00017003	1	0	A	16000015	C	A	16000015	3	1	167	1	0	0	0	0	1	0	0	0	12635	565	20	4	974	4	PROM1	4	16000015	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08		16000015	175154261	17	29855											
FBXW7	55294	broad.mit.edu	37	chr4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaccctaagagtggcatctCgagaaccgctaacaactctg	14	7	8	12	2	2	2	0	0	2	2	3	3	2	2	2	1	4	2	2	1	5	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								28	50					0	0	0	0	T	153247366	C	T	153247366	3	4	167	1	0	0	0	0	1	0	0	0	5814	884	31	1	699	1	FBXW7	4	153247366	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	137247351	153247366	37906910	18	29856											
FAT1	2195	broad.mit.edu	37	chr4	187628153	187628154	+	Frame_Shift_Ins	INS	-	-	C																															ctaaccacatgatgacggttINSccttctggaagatcctctcg																										TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr4:187628153_187628154insC	ENST00000441802.2	-	2	3037_3038	c.2828_2829insG	c.(2827-2829)gacfs	p.D943fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	943	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGATGACGGTTCCTTCTGGAAG	0.455										HNSCC(5;0.00058)			93	147	---	---	---	---					C	187628154	-	C	187628153	7	5	167	1	0	1	1	0	0	0	0	0	5734	1770	62	0	11041	0	FAT1	4	187628153	Frame_Shift_Ins	INS	-	TCGA-CQ-A4CG-01A-11D-A25Y-08	34380787	187628153	3526123	19	29857											
MEF2C	4208	broad.mit.edu	37	chr5	88047695	88047695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgttacctgcacttggagGtcgatgtgttacaccaggag	8	12	13	8	1	0	0	0	0	0	0	1	3	0	2	2	3	3	3	2	3	2	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr5:88047695G>A	ENST00000504921.2	-	5	1240	c.568C>T	c.(568-570)Cct>Tct	p.P190S	MEF2C_ENST00000437473.2_Missense_Mutation_p.P190S|MEF2C_ENST00000510942.1_Missense_Mutation_p.P190S|MEF2C_ENST00000514015.1_Missense_Mutation_p.P190S|MEF2C_ENST00000514028.1_Missense_Mutation_p.P190S|MEF2C_ENST00000424173.2_Missense_Mutation_p.P188S|MEF2C_ENST00000508569.1_Missense_Mutation_p.P190S|MEF2C_ENST00000340208.5_Missense_Mutation_p.P208S|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000506554.1_Missense_Mutation_p.P190S|MEF2C_ENST00000539796.1_Missense_Mutation_p.P142S			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	190					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GCACTTGGAGGTCGATGTGTT	0.473										HNSCC(66;0.2)			56	130					0	0	0	0	A	88047695	G	A	88047695	3	1	167	1	0	0	0	0	1	0	0	0	9526	1261	44	4	881	4	MEF2C	5	88047695	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08		88047695	92867565	20	29858											
ZBTB22	9278	broad.mit.edu	37	chr6	33283037	33283037	+	Frame_Shift_Del	DEL	G	G	-																															gtggcgcatgaagctgtctcGccacatgaacttcttggcgc																										TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr6:33283037delG	ENST00000431845.2	-	2	1808	c.1657delC	c.(1657-1659)gafs	p.R553fs	ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.R553fs	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AAGCTGTCTCGCCACATGAAC	0.617													56	90	---	---	---	---					-	33283037	G	-	33283037	7	5	167	1	0	1	0	1	0	0	0	0	17625	1095	38	0	251	0	ZBTB22	6	33283037	Frame_Shift_Del	DEL	G	TCGA-CQ-A4CG-01A-11D-A25Y-08		33283037	137832030	21	29859											
FAM126A	84668	broad.mit.edu	37	chr7	22985394	22985394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgggttatgtgggactgtGacaccactgacttgttcaaa	10	11	12	8	1	1	2	1	2	0	0	1	4	1	3	1	2	0	2	1	2	2	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr7:22985394G>A	ENST00000432176.2	-	11	1612	c.1380C>T	c.(1378-1380)gtC>gtT	p.V460V	FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	460						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						GTGGGACTGTGACACCACTGA	0.468													32	76					0	0	0	0	A	22985394	G	A	22985394	2	1	167	1	0	0	0	0	0	0	0	1	5470	1277	45	2		2	FAM126A	7	22985394	Silent	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08		22985394	136153269	22	29860											
PCLO	27445	broad.mit.edu	37	chr7	82595332	82595332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagtcatgtttctgttcttCtggggctgatgtttttgcct	4	20	10	7	0	4	1	1	1	3	0	4	1	4	1	1	2	1	4	1	2	1	6			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr7:82595332C>T	ENST00000423517.2	-	4	4109	c.3772G>A	c.(3772-3774)Gaa>Aaa	p.E1258K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1258K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1197					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTGTTCTTCTGGGGCTGAT	0.413													71	151					0	0	0	0	T	82595332	C	T	82595332	3	4	167	1	0	0	0	0	1	0	0	0	11654	922	32	2	11761	2	PCLO	7	82595332	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	59609938	82595332	76543331	23	29861											
GATS	352954	broad.mit.edu	37	chr7	99821545	99821545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgtggacagcatgaacacgGatatgttctggtcagccagt	11	9	12	9	2	2	1	1	1	1	0	2	3	2	3	1	3	3	2	1	3	2	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr7:99821545G>A	ENST00000436886.2	-	3	619	c.371C>T	c.(370-372)tCc>tTc	p.S124F	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN		124										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATGAACACGGATATGTTCTG	0.572													38	81					0	0	0	0	A	99821545	G	A	99821545	3	1	167	1	0	0	0	0	1	0	0	0	6313	1174	41	2	128	2	GATS	7	99821545	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	17226213	99821545	59317118	24	29862											
SSPO	23145	broad.mit.edu	37	chr7	149515170	149515170	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggtcagggctgccgtgggCcccgccaggacctcgagtaa	6	6	16	13	3	1	0	1	0	0	0	2	2	1	1	5	4	1	2	5	4	1	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr7:149515170C>G	ENST00000378016.2	+	0	11560							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCCGTGGGCCCCGCCAGGA	0.697													5	10					0	0	0	0	G	149515170	C	G	149515170	1	3	167	0	1	0	0	0	0	0	0	0	15279	739	26	4		4	SSPO	7	149515170	RNA	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	49693625	149515170	9623493	25	29863											
CSMD3	114788	broad.mit.edu	37	chr8	113275944	113275944	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggaaggatagctcataGcctggagaacagatgtagct	13	7	14	7	0	1	2	1	0	0	2	1	5	1	4	1	3	4	4	1	3	5	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr8:113275944G>C	ENST00000297405.5	-	61	10030	c.9786C>G	c.(9784-9786)ggC>ggG	p.G3262G	CSMD3_ENST00000455883.2_Silent_p.G3093G|CSMD3_ENST00000352409.3_Silent_p.G3192G|CSMD3_ENST00000343508.3_Silent_p.G3222G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3262	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAGCTCATAGCCTGGAGAAC	0.473										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	60					0	0	0	0	C	113275944	G	C	113275944	2	2	167	1	0	0	0	0	0	0	0	1	3978	958	34	4		4	CSMD3	8	113275944	Silent	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08		113275944	33088078	26	29864											
SLC24A2	25769	broad.mit.edu	37	chr9	19576921	19576921	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatgtttccctgcactcaCccacgtggttggcagcccca	6	10	10	15	1	1	0	1	0	0	0	2	1	2	1	4	3	2	4	4	3	0	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr9:19576921C>T	ENST00000341998.2	-	5	1290		c.e5+1		SLC24A2_ENST00000286344.3_Splice_Site	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2						visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CCTGCACTCACCCACGTGGTT	0.557													22	30					0	0	0	0	T	19576921	C	T	19576921	5	4	167	1	0	0	0	0	0	0	1	0	14554	521	18	4	780	4	SLC24A2	9	19576921	Splice_Site	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08		19576921	121636510	27	29865											
SPAG6	9576	broad.mit.edu	37	chr10	22680762	22680762	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagacacactcctgaacaCgcacgggctgttgcagtcac	11	6	11	13	2	1	2	1	1	0	1	2	3	2	3	1	2	2	4	1	2	2	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr10:22680762C>T	ENST00000376603.2	+	8	1480	c.1338C>T	c.(1336-1338)caC>caT	p.H446H	SPAG6_ENST00000376624.3_Silent_p.H370H|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Silent_p.H131H|SPAG6_ENST00000313311.6_Silent_p.H370H|SPAG6_ENST00000538630.1_Silent_p.H345H|SPAG6_ENST00000490361.1_3'UTR			O75602	SPAG6_HUMAN	sperm associated antigen 6	370					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CTCCTGAACACGCACGGGCTG	0.453													16	34					0	0	0	0	T	22680762	C	T	22680762	2	4	167	1	0	0	0	0	0	0	0	1	15072	535	19	1		1	SPAG6	10	22680762	Silent	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08		22680762	112853985	28	29866											
SFTPD	6441	broad.mit.edu	37	chr10	81706258	81706258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccctctctcccatccCgtccatcgcgaccaggcagg	6	6	11	18	3	1	0	0	0	1	0	6	2	4	0	5	3	0	1	5	3	0	0	rs142564545		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr10:81706258C>T	ENST00000372292.3	-	2	198	c.158G>A	c.(157-159)cGg>cAg	p.R53Q		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	53	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCTCCCATCCCGTCCATCGCG	0.597													25	47					0	0	0	0	T	81706258	C	T	81706258	3	4	167	1	0	0	0	0	1	0	0	0	14280	652	23	1	997	1	SFTPD	10	81706258	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	59025496	81706258	53828489	29	29867											
AGAP11	119385	broad.mit.edu	37	chr10	88752206	88752206	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaattcagtctgctgtgggGatggcttgatcctttcacag	7	13	12	9	0	3	1	2	1	1	0	4	2	4	2	1	3	1	3	1	3	1	3	rs1745903	by1000genomes	TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr10:88752206G>A	ENST00000444431.1	+	0	44				RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTGCTGTGGGGATGGCTTGAT	0.423													3	26					0	0	0	0	A	88752206	G	A	88752206	1	1	167	0	1	0	0	0	0	0	0	0	367	1189	41	2		2	AGAP11	10	88752206	RNA	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	7045948	88752206	46782541	30	29868											
SORCS3	22986	broad.mit.edu	37	chr10	106737173	106737173	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgacctatcagaagtatcgGctcaccttctatatccagag	11	10	8	12	2	3	2	2	0	1	2	5	3	4	2	3	1	0	2	3	1	5	5			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr10:106737173G>T	ENST00000369701.3	+	4	1103	c.876G>T	c.(874-876)cgG>cgT	p.R292R		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	292						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAAGTATCGGCTCACCTTCT	0.448													24	37					1.10923e-09	1.29055e-09	1	0	T	106737173	G	T	106737173	2	4	167	1	0	0	0	0	0	0	0	1	15020	1190	42	4		4	SORCS3	10	106737173	Silent	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	17984967	106737173	28797574	31	29869											
GPAM	57678	broad.mit.edu	37	chr10	113935464	113935464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgtcttgcaagccatcCgcggtgtctgtgaaaatgat	10	10	12	9	3	2	2	0	2	2	0	3	2	3	2	2	2	2	1	2	2	4	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr10:113935464C>T	ENST00000348367.4	-	6	504	c.307G>A	c.(307-309)Gga>Aga	p.G103R	GPAM_ENST00000369425.1_Missense_Mutation_p.G103R|GPAM_ENST00000423155.1_Missense_Mutation_p.G103R			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	103					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	p.G103*(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GCAAGCCATCCGCGGTGTCTG	0.408													14	49					0	0	0	0	T	113935464	C	T	113935464	3	4	167	1	0	0	0	0	1	0	0	0	6637	661	23	1	2247	1	GPAM	10	113935464	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	7198291	113935464	21599283	32	29870											
HRAS	3265	broad.mit.edu	37	chr11	533552	533552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgtgcagccaggtcacaCttgttccccaccagcaccat	8	8	9	16	1	1	0	1	0	0	0	2	0	2	0	5	1	4	3	5	1	0	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr11:533552C>A	ENST00000417302.1	-	4	538	c.351G>T	c.(349-351)aaG>aaT	p.K117N	HRAS_ENST00000311189.7_Missense_Mutation_p.K117N|HRAS_ENST00000451590.1_Missense_Mutation_p.K117N|HRAS_ENST00000397594.1_Missense_Mutation_p.K117N|HRAS_ENST00000397596.2_Missense_Mutation_p.K117N	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	117			K -> R (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.K117N(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCAGGTCACACTTGTTCCCCA	0.632		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			74	127					1.15074e-40	1.4972e-40	1	0	A	533552	C	A	533552	3	1	167	1	0	0	0	0	1	0	0	0	7398	564	20	4	293	4	HRAS	11	533552	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08		533552	134472964	33	29871											
CTSD	1509	broad.mit.edu	37	chr11	1780781	1780781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagtttgcagtggatggagGggacccacaggttggaggag	9	7	19	6	0	0	0	0	0	0	0	0	5	0	5	1	7	1	4	1	7	0	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr11:1780781G>A	ENST00000236671.2	-	3	449	c.317C>T	c.(316-318)cCc>cTc	p.P106L		NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	106					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTGGATGGAGGGGACCCACAG	0.657													28	102					0	0	0	0	A	1780781	G	A	1780781	3	1	167	1	0	0	0	0	1	0	0	0	4064	1232	43	4	949	4	CTSD	11	1780781	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	1247229	1780781	133225735	34	29872											
PAMR1	25891	broad.mit.edu	37	chr11	35454063	35454063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgggaaggacacagccgcGatgcctcctgtctctgcagt	7	7	12	15	3	1	0	0	0	1	0	3	3	2	2	4	2	3	1	4	2	1	0			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr11:35454063G>A	ENST00000378880.2	-	11	2449	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	PAMR1_ENST00000378878.3_Silent_p.I557I|PAMR1_ENST00000278360.3_Silent_p.I685I|PAMR1_ENST00000532848.1_Silent_p.I628I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	668	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ACACAGCCGCGATGCCTCCTG	0.567													32	94					0	0	0	0	A	35454063	G	A	35454063	2	1	167	1	0	0	0	0	0	0	0	1	11484	1048	37	1		1	PAMR1	11	35454063	Silent	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	33673282	35454063	99552453	35	29873											
KBTBD3	143879	broad.mit.edu	37	chr11	105924557	105924557	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgtggatggtcgagcatCagggaagagtccaccagaac	12	7	14	8	1	1	2	1	0	0	2	3	5	2	4	2	3	2	2	2	3	2	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr11:105924557C>A	ENST00000526793.1	-	3	1018	c.859G>T	c.(859-861)Gat>Tat	p.D287Y	KBTBD3_ENST00000531837.1_Missense_Mutation_p.D287Y|KBTBD3_ENST00000534815.1_Missense_Mutation_p.D208Y	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	283										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GGTCGAGCATCAGGGAAGAGT	0.358													73	78					1.356e-25	1.72712e-25	1	0	A	105924557	C	A	105924557	3	1	167	1	0	0	0	0	1	0	0	0	8047	826	29	2	983	2	KBTBD3	11	105924557	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	70470494	105924557	29081959	36	29874											
HSPB2	3316	broad.mit.edu	37	chr11	111784181	111784181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggcctcctgccagaagaGatcctgacccccacactcta	10	8	7	16	0	1	3	0	1	1	2	3	4	3	3	6	1	1	0	6	1	3	2	rs145827670	by1000genomes	TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr11:111784181G>T	ENST00000304298.3	+	2	699	c.111G>T	c.(109-111)gaG>gaT	p.E37D	CRYAB_ENST00000527950.1_Intron|HSPB2_ENST00000537382.1_Missense_Mutation_p.E37D|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000533475.1_Intron	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	37					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		TGCCAGAAGAGATCCTGACCC	0.637													84	257					8.2577e-42	1.08607e-41	1	0	T	111784181	G	T	111784181	3	4	167	1	0	0	0	0	1	0	0	0	7472	933	33	2	117	2	HSPB2	11	111784181	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	5859624	111784181	23222335	37	29875											
OR4D5	219875	broad.mit.edu	37	chr11	123810742	123810742	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcattatgaatcagactgTctgtgcactccttatggcag	9	13	9	10	0	3	2	2	1	1	1	4	2	4	2	1	1	1	3	1	1	3	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr11:123810742T>A	ENST00000307033.2	+	1	493	c.419T>A	c.(418-420)gTc>gAc	p.V140D		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AATCAGACTGTCTGTGCACTC	0.522													21	106					0	0	0	0	A	123810742	T	A	123810742	3	1	167	1	0	0	0	0	1	0	0	0	11128	1667	58	5	421	5	OR4D5	11	123810742	Missense_Mutation	SNP	T	TCGA-CQ-A4CG-01A-11D-A25Y-08	12026561	123810742	11195774	38	29876											
LRTM2	654429	broad.mit.edu	37	chr12	1943730	1943730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattgcaggggtcgtgtgcgGcgtcgtctgcatcatgatgg	5	11	16	9	4	2	1	1	1	1	0	4	1	2	1	0	4	3	2	0	4	0	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr12:1943730G>T	ENST00000543818.1	+	5	1798	c.956G>T	c.(955-957)gGc>gTc	p.G319V	CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.G319V|LRTM2_ENST00000299194.1_Missense_Mutation_p.G319V|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000543730.1_3'UTR	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	319						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GTCGTGTGCGGCGTCGTCTGC	0.662													24	43					7.33628e-21	9.15144e-21	1	0	T	1943730	G	T	1943730	3	4	167	1	0	0	0	0	1	0	0	0	9109	1203	42	4	966	4	LRTM2	12	1943730	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08		1943730	131908165	39	29877											
PRB1	5542	broad.mit.edu	37	chr12	11506882	11506882	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtggctttcctggaggaGgtggggggccctggggcttg	2	11	20	8	0	0	0	0	0	0	0	1	2	1	2	2	9	0	2	2	9	0	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr12:11506882G>T	ENST00000500254.2	-	3	192	c.155C>A	c.(154-156)cCt>cAt	p.P52H	PRB1_ENST00000545626.1_Missense_Mutation_p.P52H|PRB1_ENST00000546254.1_Missense_Mutation_p.P52H	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	235						extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCCTGGAGGAGGTGGGGGGCC	0.582													74	149					5.2429e-30	6.74884e-30	1	0	T	11506882	G	T	11506882	3	4	167	1	0	0	0	0	1	0	0	0	12522	1000	35	4	844	4	PRB1	12	11506882	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	9563152	11506882	122345013	40	29878											
ESYT1	23344	broad.mit.edu	37	chr12	56528147	56528147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtctacagtaccaactgcCcagtgtgggaggaagcgttc	9	9	12	11	1	1	0	0	0	1	0	2	2	1	2	2	2	5	2	2	2	4	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr12:56528147C>T	ENST00000394048.5	+	15	1831	c.1567C>T	c.(1567-1569)Cca>Tca	p.P523S	ESYT1_ENST00000267113.4_Missense_Mutation_p.P533S|ESYT1_ENST00000541590.1_Missense_Mutation_p.P533S	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	523	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TACCAACTGCCCAGTGTGGGA	0.512													34	78					0	0	0	0	T	56528147	C	T	56528147	3	4	167	1	0	0	0	0	1	0	0	0	5302	623	22	4	1655	4	ESYT1	12	56528147	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	45021265	56528147	77323748	41	29879											
TMTC2	160335	broad.mit.edu	37	chr12	83289634	83289634	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcctaagcattagtttgtTaattttctggggttcctccc	6	19	7	9	0	1	0	0	0	1	0	4	0	4	0	3	2	1	4	3	2	3	8			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr12:83289634T>A	ENST00000549919.1	+	4	2479	c.674T>A	c.(673-675)tTa>tAa	p.L225*	TMTC2_ENST00000548305.1_Nonsense_Mutation_p.L231*|TMTC2_ENST00000321196.3_Nonsense_Mutation_p.L231*			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	231						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ATTAGTTTGTTAATTTTCTGG	0.433													48	73					0	0	0	0	A	83289634	T	A	83289634	4	1	167	1	0	0	0	0	0	1	0	0	16355	1764	61	5	702	5	TMTC2	12	83289634	Nonsense_Mutation	SNP	T	TCGA-CQ-A4CG-01A-11D-A25Y-08	26761487	83289634	50562261	42	29880											
UBE3B	89910	broad.mit.edu	37	chr12	109948218	109948218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttatggtgctgtacgagcGggactgccggcggcgcttca	5	9	16	11	5	1	0	1	0	0	0	1	2	1	1	1	4	4	4	1	4	2	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr12:109948218G>A	ENST00000342494.3	+	17	2406	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.R604Q|UBE3B_ENST00000434735.2_Missense_Mutation_p.R604Q	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	604					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTGTACGAGCGGGACTGCCGG	0.627													5	12					0	0	0	0	A	109948218	G	A	109948218	3	1	167	1	0	0	0	0	1	0	0	0	16976	1116	39	1	1869	1	UBE3B	12	109948218	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	26658584	109948218	23903677	43	29881											
NCOR2	9612	broad.mit.edu	37	chr12	124832754	124832754	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagatggctctgcccacGcggccctccatcatgtcata	8	8	11	14	2	3	1	2	0	1	1	4	3	4	1	3	3	1	1	3	3	1	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr12:124832754G>T	ENST00000356219.3	-	30	4127	c.3972C>A	c.(3970-3972)cgC>cgA	p.R1324R	NCOR2_ENST00000429285.2_Silent_p.R1307R|NCOR2_ENST00000404621.1_Silent_p.R1307R|NCOR2_ENST00000404121.2_Silent_p.R878R|NCOR2_ENST00000397355.1_Silent_p.R1308R|NCOR2_ENST00000405201.1_Silent_p.R1317R	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1325					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCTGCCCACGCGGCCCTCCA	0.652											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	46					1.66031e-10	1.96958e-10	1	0	T	124832754	G	T	124832754	2	4	167	1	0	0	0	0	0	0	0	1	10306	1074	38	3		3	NCOR2	12	124832754	Silent	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	14884536	124832754	9019141	44	29882											
SLC7A1	6541	broad.mit.edu	37	chr13	30110113	30110113	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaggccagcgcagcgatCaggaaggagatgacaatggc	13	4	15	9	2	1	3	1	2	0	1	1	6	1	4	1	4	2	1	1	4	2	0			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr13:30110113C>A	ENST00000380752.5	-	3	599	c.213G>T	c.(211-213)ctG>ctT	p.L71L		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	71					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCGCAGCGATCAGGAAGGAGA	0.632													13	40					0.00244969	0.00257751	1	0	A	30110113	C	A	30110113	2	1	167	1	0	0	0	0	0	0	0	1	14780	813	29	2		2	SLC7A1	13	30110113	Silent	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08		30110113	85059765	45	29883											
ATP7B	540	broad.mit.edu	37	chr13	52524492	52524492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccagggaccaccttgaCgatatcgccccgctgcacca	8	6	8	19	3	0	1	0	1	0	0	2	3	1	2	7	1	1	2	7	1	1	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr13:52524492C>T	ENST00000242839.4	-	10	2647	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.V753I|ATP7B_ENST00000344297.5_Missense_Mutation_p.V669I|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000417240.2_Missense_Mutation_p.V103I|ATP7B_ENST00000418097.2_Missense_Mutation_p.V831I|ATP7B_ENST00000400366.3_Missense_Mutation_p.V720I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	831					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACCACCTTGACGATATCGCCC	0.557									Wilson disease				11	33					0	0	0	0	T	52524492	C	T	52524492	3	4	167	1	0	0	0	0	1	0	0	0	1195	536	19	1	1954	1	ATP7B	13	52524492	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	22414379	52524492	62645386	46	29884											
KCTD12	115207	broad.mit.edu	37	chr13	77459494	77459494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atagcgcgaggtgtagcgctCcgggggacggtcggggtccc	5	6	19	11	6	0	0	0	0	0	0	3	2	2	1	2	6	2	2	2	6	2	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr13:77459494C>T	ENST00000377474.2	-	1	1031	c.790G>A	c.(790-792)Gag>Aag	p.E264K	KCTD12_ENST00000317765.2_Missense_Mutation_p.E264K	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	264						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		GTGTAGCGCTCCGGGGGACGG	0.637											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	20					0	0	0	0	T	77459494	C	T	77459494	3	4	167	1	0	0	0	0	1	0	0	0	8152	864	30	2	191	2	KCTD12	13	77459494	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	24935002	77459494	37710384	47	29885											
LRFN5	145581	broad.mit.edu	37	chr14	42360793	42360793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttattcccaaactaacgggGctcaaatacaaggctgtagt	13	11	8	9	1	1	0	1	0	0	0	2	0	2	0	1	3	3	3	1	3	7	6			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr14:42360793G>C	ENST00000298119.4	+	4	2915	c.1726G>C	c.(1726-1728)Gct>Cct	p.A576P	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	576						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACTAACGGGGCTCAAATACA	0.453										HNSCC(30;0.082)			19	100					0	0	0	0	C	42360793	G	C	42360793	3	2	167	1	0	0	0	0	1	0	0	0	9005	1203	42	4	1732	4	LRFN5	14	42360793	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08		42360793	64988747	48	29886											
BDKRB1	623	broad.mit.edu	37	chr14	96730375	96730375	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcaacggggtcatcaaggCcaatttgttcatcagcatct	11	11	8	11	1	6	0	5	0	1	0	6	0	6	0	1	3	2	2	1	3	3	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr14:96730375C>G	ENST00000216629.6	+	3	962	c.356C>G	c.(355-357)gCc>gGc	p.A119G	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.A119G	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	119					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		GTCATCAAGGCCAATTTGTTC	0.592													28	118					0	0	0	0	G	96730375	C	G	96730375	3	3	167	1	0	0	0	0	1	0	0	0	1396	739	26	4	358	4	BDKRB1	14	96730375	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	54369582	96730375	10619165	49	29887											
SPTBN5	51332	broad.mit.edu	37	chr15	42174866	42174866	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgtccgcactccttcaGccaggcttcctcctcctcac	4	10	6	21	2	2	0	2	0	0	0	7	0	7	0	7	1	1	3	7	1	0	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr15:42174866G>A	ENST00000320955.6	-	10	2190	c.1963C>T	c.(1963-1965)Ctg>Ttg	p.L655L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	655					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACTCCTTCAGCCAGGCTTCC	0.667													6	10					0	0	0	0	A	42174866	G	A	42174866	2	1	167	1	0	0	0	0	0	0	0	1	15212	962	34	4		4	SPTBN5	15	42174866	Silent	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08		42174866	60356526	50	29888											
ALDH1A2	8854	broad.mit.edu	37	chr15	58253014	58253014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatcccccaaaggggctctGggcatttaaggcattgtaac	11	9	11	10	0	1	0	0	0	1	0	2	1	2	0	2	4	1	4	2	4	4	4			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr15:58253014G>T	ENST00000249750.4	-	12	2205	c.1438C>A	c.(1438-1440)Cag>Aag	p.Q480K	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.Q442K|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.Q451K|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.Q459K|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.Q384K	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	480					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	AAGGGGCTCTGGGCATTTAAG	0.418													21	29					3.62473e-10	4.25818e-10	1	0	T	58253014	G	T	58253014	3	4	167	1	0	0	0	0	1	0	0	0	491	1357	47	4	126	4	ALDH1A2	15	58253014	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	16078148	58253014	44278378	51	29889											
WFIKKN1	117166	broad.mit.edu	37	chr16	682656	682656	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagcacgcttccccggCagcccagctgcgccgacgac	6	4	13	18	5	0	0	0	0	0	0	1	2	1	0	4	2	4	5	4	2	0	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr16:682656C>A	ENST00000319070.2	+	2	568	c.246C>A	c.(244-246)ggC>ggA	p.G82G		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	82						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				GCTTCCCCGGCAGCCCAGCTG	0.677													7	17					8.12818e-05	8.86045e-05	1	0	A	682656	C	A	682656	2	1	167	1	0	0	0	0	0	0	0	1	17454	697	25	4		4	WFIKKN1	16	682656	Silent	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08		682656	89672097	52	29890											
ABCC11	85320	broad.mit.edu	37	chr16	48234310	48234310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcgtccagcaggtagatCtgacggtcggaatagacggc	9	7	16	9	4	1	3	0	1	1	2	4	4	2	4	1	5	1	2	1	5	3	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr16:48234310C>A	ENST00000394747.1	-	14	2308	c.1959G>T	c.(1957-1959)caG>caT	p.Q653H	ABCC11_ENST00000353782.5_Missense_Mutation_p.Q653H|ABCC11_ENST00000356608.2_Missense_Mutation_p.Q653H|ABCC11_ENST00000537808.1_Missense_Mutation_p.Q653H|ABCC11_ENST00000394748.1_Missense_Mutation_p.Q653H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	653	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GCAGGTAGATCTGACGGTCGG	0.592													22	31					2.54575e-18	3.14322e-18	1	0	A	48234310	C	A	48234310	3	1	167	1	0	0	0	0	1	0	0	0	51	912	32	2	2253	2	ABCC11	16	48234310	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	47551654	48234310	42120443	53	29891											
CDYL2	124359	broad.mit.edu	37	chr16	80667073	80667073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagacgtagtccttctccGcttccagcttcctcttcact	7	13	5	16	2	3	1	1	0	2	1	7	1	6	1	4	0	1	3	4	0	2	5			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr16:80667073G>A	ENST00000299564.8	-	3	832	c.677C>T	c.(676-678)gCg>gTg	p.A226V	CDYL2_ENST00000563890.1_Missense_Mutation_p.A227V|CDYL2_ENST00000566173.1_Missense_Mutation_p.A227V|CDYL2_ENST00000562812.1_Missense_Mutation_p.A227V	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	226						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GTCCTTCTCCGCTTCCAGCTT	0.488													39	62					0	0	0	0	A	80667073	G	A	80667073	3	1	167	1	0	0	0	0	1	0	0	0	3215	1087	38	1	863	1	CDYL2	16	80667073	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	32432763	80667073	9687680	54	29892											
JPH3	57338	broad.mit.edu	37	chr16	87678395	87678395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcttcggcgtgagccagcGctcggacgggctcaagtacg	6	6	16	13	7	1	1	1	1	0	0	3	2	1	2	1	4	3	4	1	4	2	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr16:87678395G>A	ENST00000284262.2	+	2	1156	c.914G>A	c.(913-915)cGc>cAc	p.R305H		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	305					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GTGAGCCAGCGCTCGGACGGG	0.662													31	57					0	0	0	0	A	87678395	G	A	87678395	3	1	167	1	0	0	0	0	1	0	0	0	8015	1087	38	1	920	1	JPH3	16	87678395	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	7011322	87678395	2676358	55	29893											
C17orf74	201243	broad.mit.edu	37	chr17	7330538	7330538	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctcacggtgttggacgagGcctcccatcaacggacccca	8	6	10	17	3	2	0	2	0	0	0	3	3	3	2	5	4	1	1	5	4	1	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr17:7330538G>C	ENST00000333870.3	+	3	1302	c.1228G>C	c.(1228-1230)Gcc>Ccc	p.A410P	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	410						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GTTGGACGAGGCCTCCCATCA	0.697													13	33					0	0	0	0	C	7330538	G	C	7330538	3	2	167	1	0	0	0	0	1	0	0	0	1895	1203	42	4	1238	4	C17orf74	17	7330538	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08		7330538	73864672	56	29894											
WIPF2	147179	broad.mit.edu	37	chr17	38412764	38412764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcctcctccacctcccaCatttcatcaggtaggtagtc	7	12	7	15	0	2	0	2	0	0	0	7	0	6	0	5	3	0	2	5	3	2	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr17:38412764C>T	ENST00000323571.4	+	2	293	c.53C>T	c.(52-54)aCa>aTa	p.T18I	WIPF2_ENST00000394103.3_Missense_Mutation_p.T18I|WIPF2_ENST00000585043.1_Missense_Mutation_p.T18I|WIPF2_ENST00000494757.1_Intron|WIPF2_ENST00000536600.1_Missense_Mutation_p.T18I|WIPF2_ENST00000583130.1_Missense_Mutation_p.T18I	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	18						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCACCTCCCACATTTCATCAG	0.468										HNSCC(43;0.11)			33	57					0	0	0	0	T	38412764	C	T	38412764	3	4	167	1	0	0	0	0	1	0	0	0	17464	478	17	4	55	4	WIPF2	17	38412764	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	31082226	38412764	42782446	57	29895											
GJC1	10052	broad.mit.edu	37	chr17	42882006	42882006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaggattaaatccagaCggaggtcttcccatcccctg	9	8	9	15	2	1	1	0	0	1	1	4	3	4	3	6	3	0	0	6	3	2	2	rs146820007		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr17:42882006C>T	ENST00000426548.1	-	3	1449	c.1180G>A	c.(1180-1182)Gtc>Atc	p.V394I	GJC1_ENST00000590758.1_Missense_Mutation_p.V394I|GJC1_ENST00000592524.1_Missense_Mutation_p.V394I|GJC1_ENST00000330514.4_Missense_Mutation_p.V394I	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	394					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TAAATCCAGACGGAGGTCTTC	0.488													36	81					0	0	0	0	T	42882006	C	T	42882006	3	4	167	1	0	0	0	0	1	0	0	0	6465	536	19	1	14	1	GJC1	17	42882006	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	4469242	42882006	38313204	58	29896											
ABCA6	23460	broad.mit.edu	37	chr17	67102347	67102347	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatcatctccacttgttCgaaatctataaacacacaca	14	13	2	12	1	4	0	1	0	3	0	6	1	4	0	1	0	1	1	1	0	5	5			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr17:67102347C>A	ENST00000284425.2	-	19	2569	c.2395G>T	c.(2395-2397)Gaa>Taa	p.E799*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	799					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCCACTTGTTCGAAATCTATA	0.378													10	30					7.48243e-07	8.38309e-07	1	0	A	67102347	C	A	67102347	4	1	167	1	0	0	0	0	0	1	0	0	36	893	31	3	2542	3	ABCA6	17	67102347	Nonsense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	24220341	67102347	14092863	59	29897											
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74569351	74569351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcctccgttgcccaccacGgcacaccggatacactttgg	8	8	9	16	3	0	0	0	0	0	0	1	1	1	1	5	3	3	2	5	3	1	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr17:74569351G>A	ENST00000225276.5	-	4	775	c.456C>T	c.(454-456)gcC>gcT	p.A152A	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	152					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TGCCCACCACGGCACACCGGA	0.607													6	9					0	0	0	0	A	74569351	G	A	74569351	2	1	167	1	0	0	0	0	0	0	0	1	15314	1103	39	1		1	ST6GALNAC2	17	74569351	Silent	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	7467004	74569351	6625859	60	29898											
SEC11C	90701	broad.mit.edu	37	chr18	56816786	56816786	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgccatgatcgtgtcttcTgcactcatgatatggaaagg	9	13	10	9	2	3	2	1	2	2	0	5	3	3	3	1	2	1	1	1	2	2	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr18:56816786T>C	ENST00000587834.1	+	2	601	c.129T>C	c.(127-129)tcT>tcC	p.S43S	SEC11C_ENST00000588875.1_Silent_p.S43S	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	43					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				TCGTGTCTTCTGCACTCATGA	0.507													5	65					0	0	0	0	C	56816786	T	C	56816786	2	2	167	1	0	0	0	0	0	0	0	1	14066	1567	55	5		5	SEC11C	18	56816786	Silent	SNP	T	TCGA-CQ-A4CG-01A-11D-A25Y-08		56816786	21260462	61	29899											
ADNP2	22850	broad.mit.edu	37	chr18	77895068	77895068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgcttcgcagaacaccaCcttcctgacatcaggctcta	9	10	8	14	1	2	2	1	1	1	1	4	2	3	2	3	2	2	3	3	2	2	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr18:77895068C>A	ENST00000262198.4	+	4	2227	c.1772C>A	c.(1771-1773)aCc>aAc	p.T591N		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	591					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CAGAACACCACCTTCCTGACA	0.552													22	16					5.26018e-13	6.3018e-13	1	0	A	77895068	C	A	77895068	3	1	167	1	0	0	0	0	1	0	0	0	324	507	18	4	1782	4	ADNP2	18	77895068	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	21078282	77895068	182180	62	29900											
APC2	10297	broad.mit.edu	37	chr19	1465950	1465950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagacccgggacaggaggcgCcacgggagggccgcgcccag	8	0	19	14	5	0	1	0	0	0	1	0	5	0	4	4	5	0	0	4	5	0	0			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr19:1465950C>T	ENST00000535453.1	+	14	4363	c.2650C>T	c.(2650-2652)Cca>Tca	p.P884S	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.P610S|APC2_ENST00000233607.2_Missense_Mutation_p.P884S			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	884					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		ACAGGAGGCGCCACGGGAGGG	0.731													6	8					0	0	0	0	T	1465950	C	T	1465950	3	4	167	1	0	0	0	0	1	0	0	0	765	739	26	4	2704	4	APC2	19	1465950	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08		1465950	57663033	63	29901											
ICAM1	3383	broad.mit.edu	37	chr19	10385558	10385558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagttgttgggcatagagaCcccgttgcctaaaaaggagt	12	9	12	8	1	0	1	0	0	0	1	0	3	0	2	3	2	1	4	3	2	5	5			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr19:10385558C>T	ENST00000264832.3	+	2	510	c.185C>T	c.(184-186)aCc>aTc	p.T62I	ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	62	Ig-like C2-type 1.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GGCATAGAGACCCCGTTGCCT	0.537													42	86					0	0	0	0	T	10385558	C	T	10385558	3	4	167	1	0	0	0	0	1	0	0	0	7532	507	18	4	191	4	ICAM1	19	10385558	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	8919608	10385558	48743425	64	29902											
RAVER1	125950	broad.mit.edu	37	chr19	10428261	10428261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcaaagctgcgtttctGgccgcccagtggggtctgga	5	9	17	10	2	2	0	0	0	2	0	2	1	2	1	2	5	2	3	2	5	1	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr19:10428261G>T	ENST00000293677.6	-	13	2221	c.2140C>A	c.(2140-2142)Cag>Aag	p.Q714K	CTD-2369P2.12_ENST00000586529.1_Missense_Mutation_p.Q115K	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	0						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CTGCGTTTCTGGCCGCCCAGT	0.741													15	18					7.93312e-07	8.80649e-07	1	0	T	10428261	G	T	10428261	3	4	167	1	0	0	0	0	1	0	0	0	13176	1357	47	4	134	4	RAVER1	19	10428261	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	42703	10428261	48700722	65	29903											
NOTCH3	4854	broad.mit.edu	37	chr19	15308354	15308354	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggtgcaacgacctcCatttgcacacgggcttccgt	7	9	11	14	3	0	0	0	0	0	0	2	1	2	0	3	2	4	4	3	2	1	2	rs148166997		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr19:15308354C>A	ENST00000263388.2	-	2	229	c.154G>T	c.(154-156)Gga>Tga	p.G52*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	52	EGF-like 1.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAACGACCTCCATTTGCACAC	0.687													6	7					0.0215528	0.0222896	1	0	A	15308354	C	A	15308354	4	1	167	1	0	0	0	0	0	1	0	0	10620	603	21	4	6939	4	NOTCH3	19	15308354	Nonsense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	4880093	15308354	43820629	66	29904											
KLHL26	55295	broad.mit.edu	37	chr19	18775082	18775082	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccccgcagcacggccgacaAgaacggggccctcaagtgca	10	3	12	16	4	1	1	1	0	0	1	2	2	2	1	4	3	3	3	4	3	3	0			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr19:18775082A>G	ENST00000300976.4	+	2	185	c.95A>G	c.(94-96)aAg>aGg	p.K32R	KLHL26_ENST00000599006.1_Missense_Mutation_p.K32R|KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000595182.1_Missense_Mutation_p.K32R	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	32										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ACGGCCGACAAGAACGGGGCC	0.622													46	118					0	0	0	0	G	18775082	A	G	18775082	3	3	167	1	0	0	0	0	1	0	0	0	8433	72	3	5	101	5	KLHL26	19	18775082	Missense_Mutation	SNP	A	TCGA-CQ-A4CG-01A-11D-A25Y-08	3466728	18775082	40353901	67	29905											
KIRREL2	84063	broad.mit.edu	37	chr19	36350480	36350480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctttgtctgccgggcccGgagccaggccctgcccacag	5	6	12	18	2	1	0	0	0	1	0	1	1	1	1	6	3	3	0	6	3	0	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr19:36350480G>A	ENST00000360202.5	+	5	818	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	KIRREL2_ENST00000586102.2_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R157Q|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R207Q|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R207Q	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	207	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCGGGCCCGGAGCCAGGCC	0.627													34	43					0	0	0	0	A	36350480	G	A	36350480	3	1	167	1	0	0	0	0	1	0	0	0	8377	1116	39	1	638	1	KIRREL2	19	36350480	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	17575398	36350480	22778503	68	29906											
APLP1	333	broad.mit.edu	37	chr19	36363454	36363454	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggggaaatcagtgagcAcgaggggttcctgagggcca	9	6	17	9	1	1	2	1	2	0	0	2	4	2	3	3	5	1	2	3	5	1	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr19:36363454A>C	ENST00000221891.4	+	7	1112	c.920A>C	c.(919-921)cAc>cCc	p.H307P	APLP1_ENST00000537454.2_Missense_Mutation_p.H268P|APLP1_ENST00000586861.1_Missense_Mutation_p.H301P	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	307					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCAGTGAGCACGAGGGGTTC	0.577													59	122					0	0	0	0	C	36363454	A	C	36363454	3	2	167	1	0	0	0	0	1	0	0	0	780	159	6	5	946	5	APLP1	19	36363454	Missense_Mutation	SNP	A	TCGA-CQ-A4CG-01A-11D-A25Y-08	12974	36363454	22765529	69	29907											
ZNF420	147923	broad.mit.edu	37	chr19	37618388	37618388	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtattcatactggtgaaaaAccctatgaatgtaagcaatg	16	11	8	6	0	1	2	1	2	0	0	1	2	1	2	1	1	3	3	1	1	8	5			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr19:37618388A>C	ENST00000337995.3	+	5	710	c.495A>C	c.(493-495)aaA>aaC	p.K165N	ZNF420_ENST00000304239.7_Missense_Mutation_p.K165N|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGGTGAAAAACCCTATGAAT	0.423													28	54					0	0	0	0	C	37618388	A	C	37618388	3	2	167	1	0	0	0	0	1	0	0	0	17992	40	2	5	505	5	ZNF420	19	37618388	Missense_Mutation	SNP	A	TCGA-CQ-A4CG-01A-11D-A25Y-08	1254934	37618388	21510595	70	29908											
SYCN	342898	broad.mit.edu	37	chr19	39694790	39694790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagcttggcgcaagtgcgCgtcccgtccgagtgcttgag	6	9	15	11	5	0	2	0	1	0	1	2	3	2	2	2	1	3	3	2	1	2	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr19:39694790C>T	ENST00000318438.6	-	1	116	c.105G>A	c.(103-105)acG>acA	p.T35T		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	35					exocytosis	transport vesicle membrane				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGCAAGTGCGCGTCCCGTCCG	0.716													18	27					0	0	0	0	T	39694790	C	T	39694790	2	4	167	1	0	0	0	0	0	0	0	1	15521	755	27	1		1	SYCN	19	39694790	Silent	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	2076402	39694790	19434193	71	29909											
CYP2A6	1548	broad.mit.edu	37	chr19	41354625	41354625	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagggtggcgatggagaaGcgccggagctgcttggcgcg	6	5	20	10	6	0	1	0	0	0	1	0	4	0	2	1	5	3	3	1	5	1	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr19:41354625G>A	ENST00000301141.5	-	3	407	c.387C>T	c.(385-387)cgC>cgT	p.R129R	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	129					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CGATGGAGAAGCGCCGGAGCT	0.706													23	52					0	0	0	0	A	41354625	G	A	41354625	2	1	167	1	0	0	0	0	0	0	0	1	4194	958	34	4		4	CYP2A6	19	41354625	Silent	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	1659835	41354625	17774358	72	29910											
CEACAM20	125931	broad.mit.edu	37	chr19	45017502	45017503	+	RNA	DEL	GC	GC	-																															agattgtggtttttggttttGcttttttttttttttttttt																								rs10669399		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr19:45017502_45017503delGC	ENST00000454753.1	-	0	1588							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ttttggttttgctttttttttt	0.46													2	4	---	---	---	---					-	45017503	GC	-	45017502	6	5	167	0	1	1	0	1	0	0	0	0	3220	1334	46	0		0	CEACAM20	19	45017502	RNA	DEL	GC	TCGA-CQ-A4CG-01A-11D-A25Y-08	3662877	45017502	14111481	73	29911											
LILRB3	11025	broad.mit.edu	37	chr19	54726840	54726840	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagcagggctgtgagggcGggcgtcatggcgtctcctcc	5	7	17	12	3	2	2	1	1	1	1	4	2	3	2	2	4	1	2	2	4	0	0	rs144205480	byFrequency	TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr19:54726840G>A	ENST00000391750.1	-	2	145	c.9C>T	c.(7-9)ccC>ccT	p.P3P	LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRB3_ENST00000424807.1_Silent_p.P3P|LILRB3_ENST00000346401.6_Silent_p.P3P|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000245620.9_Silent_p.P3P|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	3					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTGAGGGCGGGCGTCATGG	0.642													12	64					0	0	0	0	A	54726840	G	A	54726840	2	1	167	1	0	0	0	0	0	0	0	1	8846	1103	39	1		1	LILRB3	19	54726840	Silent	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	9709338	54726840	4402143	74	29912											
NLRP8	126205	broad.mit.edu	37	chr19	56466706	56466706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgccacctctgtgttcGtccggtatatttctagcttg	7	15	8	11	2	2	0	0	0	2	0	4	0	3	0	3	1	2	3	3	1	4	6			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr19:56466706G>A	ENST00000291971.3	+	3	1353	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	NLRP8_ENST00000590542.1_Missense_Mutation_p.V428I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	428	NACHT.					cytoplasm	ATP binding	p.V428I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTGTGTTCGTCCGGTATAT	0.498													45	65					0	0	0	0	A	56466706	G	A	56466706	3	1	167	1	0	0	0	0	1	0	0	0	10553	1145	40	1	1292	1	NLRP8	19	56466706	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	1739866	56466706	2662277	75	29913											
ZNF667	63934	broad.mit.edu	37	chr19	56953521	56953521	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcccacatttattatatttAtgtgttttctttccattgtg	7	22	4	8	0	1	0	0	0	1	0	3	0	3	0	2	0	0	1	2	0	4	10			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr19:56953521A>C	ENST00000504904.3	-	7	1562	c.843T>G	c.(841-843)caT>caG	p.H281Q	ZNF667_ENST00000292069.6_Missense_Mutation_p.H281Q|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.H409Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TATTATATTTATGTGTTTTCT	0.368													39	95					0	0	0	0	C	56953521	A	C	56953521	3	2	167	1	0	0	0	0	1	0	0	0	18169	446	16	5	993	5	ZNF667	19	56953521	Missense_Mutation	SNP	A	TCGA-CQ-A4CG-01A-11D-A25Y-08	486815	56953521	2175462	76	29914											
NCOA6	23054	broad.mit.edu	37	chr20	33337511	33337511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggcctgcacatgagggggGaccatgttggtttgttgaat	8	12	15	6	0	0	2	0	2	0	0	0	3	0	3	2	5	1	4	2	5	1	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr20:33337511G>A	ENST00000374796.2	-	10	5057	c.2487C>T	c.(2485-2487)gtC>gtT	p.V829V	NCOA6_ENST00000359003.2_Silent_p.V829V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	829	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATGAGGGGGGACCATGTTGG	0.502													133	116					0	0	0	0	A	33337511	G	A	33337511	2	1	167	1	0	0	0	0	0	0	0	1	10303	1161	41	2		2	NCOA6	20	33337511	Silent	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08		33337511	29688009	77	29915											
GDF5	8200	broad.mit.edu	37	chr20	34022217	34022217	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgtggacctgccgggcGgcgcggtcgaagcccaggcc	4	6	16	15	6	1	0	0	0	1	0	3	2	1	1	4	5	2	0	4	5	1	1			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr20:34022217G>A	ENST00000374372.1	-	4	1499	c.996C>T	c.(994-996)gcC>gcT	p.A332A	GDF5_ENST00000374369.3_Silent_p.A332A|GDF5OS_ENST00000374375.1_Silent_p.A87A			P43026	GDF5_HUMAN	growth differentiation factor 5	332					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCTGCCGGGCGGCGCGGTCGA	0.637													36	89					0	0	0	0	A	34022217	G	A	34022217	2	1	167	1	0	0	0	0	0	0	0	1	6367	1103	39	1		1	GDF5	20	34022217	Silent	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	684706	34022217	29003303	78	29916											
KCNQ2	3785	broad.mit.edu	37	chr20	62071033	62071033	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtctgggggtacttgTccccgtagccaatggtggtc	5	11	14	11	1	1	0	0	0	1	0	4	0	3	0	4	5	2	2	4	5	3	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr20:62071033T>C	ENST00000354587.3	-	6	1021	c.845A>G	c.(844-846)gAc>gGc	p.D282G	KCNQ2_ENST00000430658.1_Missense_Mutation_p.D282G|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D282G|KCNQ2_ENST00000370226.1_Missense_Mutation_p.D282G|KCNQ2_ENST00000370221.1_Missense_Mutation_p.D282G|KCNQ2_ENST00000370222.3_Missense_Mutation_p.D282G|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D282G|KCNQ2_ENST00000359125.2_Missense_Mutation_p.D282G|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D282G|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D282G|KCNQ2_ENST00000344462.3_Missense_Mutation_p.D282G|KCNQ2_ENST00000344425.5_Missense_Mutation_p.D282G			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	282					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGGGTACTTGTCCCCGTAGCC	0.642													42	51					0	0	0	0	C	62071033	T	C	62071033	3	2	167	1	0	0	0	0	1	0	0	0	8136	1667	58	5	1885	5	KCNQ2	20	62071033	Missense_Mutation	SNP	T	TCGA-CQ-A4CG-01A-11D-A25Y-08	28048816	62071033	954487	79	29917											
BACH1	571	broad.mit.edu	37	chr21	30699670	30699670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgactctgagacggacaccGaaggagacagtgaatcctgt	13	6	12	10	3	1	3	0	2	1	2	2	8	2	4	2	2	0	0	2	2	2	0			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr21:30699670G>A	ENST00000399921.1	+	3	1768	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	BACH1_ENST00000286800.3_Missense_Mutation_p.E509K	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	509						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GACGGACACCGAAGGAGACAG	0.413													50	90					0	0	0	0	A	30699670	G	A	30699670	3	1	167	1	0	0	0	0	1	0	0	0	1287	1059	37	1	1531	1	BACH1	21	30699670	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08		30699670	17430225	80	29918											
RRP1	8568	broad.mit.edu	37	chr21	45217866	45217866	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgcttgccattgaagacctCctgaatgaactggacacaca	12	8	8	13	1	0	4	0	3	0	1	1	5	1	5	4	1	2	1	4	1	3	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr21:45217866C>T	ENST00000497547.1	+	8	813	c.696C>T	c.(694-696)ctC>ctT	p.L232L	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	232					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		TTGAAGACCTCCTGAATGAAC	0.572													19	32					0	0	0	0	T	45217866	C	T	45217866	2	4	167	1	0	0	0	0	0	0	0	1	13770	842	30	2		2	RRP1	21	45217866	Silent	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	14518196	45217866	2912029	81	29919											
AIFM3	150209	broad.mit.edu	37	chr22	21328069	21328070	+	Frame_Shift_Ins	INS	-	-	G																															gcgggaagtggagctgggctINSgggggaaggtgttgctggtg																										TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chr22:21328069_21328070insG	ENST00000399167.2	+	4	508_509	c.268_269insG	c.(268-270)gggfs	p.G90fs	AIFM3_ENST00000335375.5_Intron|AIFM3_ENST00000405089.1_Frame_Shift_Ins_p.G96fs|AIFM3_ENST00000440238.2_Frame_Shift_Ins_p.G90fs|AIFM3_ENST00000399163.2_Frame_Shift_Ins_p.G90fs|AIFM3_ENST00000333607.6_Frame_Shift_Ins_p.G90fs	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGAGCTGGGCTGGGGGAAGGTG	0.629													2	4	---	---	---	---					G	21328070	-	G	21328069	7	5	167	1	0	1	1	0	0	0	0	0	428	1580	55	0	296	0	AIFM3	22	21328069	Frame_Shift_Ins	INS	-	TCGA-CQ-A4CG-01A-11D-A25Y-08		21328069	29976497	82	29920											
TBL1X	6907	broad.mit.edu	37	chrX	9659730	9659730	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgtgcctggaatcctgTcagtgatttgctagcctccg	6	14	10	11	1	1	1	1	1	0	0	3	2	3	2	4	1	3	1	4	1	2	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chrX:9659730T>G	ENST00000217964.7	+	8	1368	c.728T>G	c.(727-729)gTc>gGc	p.V243G	TBL1X_ENST00000407597.2_Missense_Mutation_p.V243G|TBL1X_ENST00000380961.1_Missense_Mutation_p.V192G|TBL1X_ENST00000536365.1_Missense_Mutation_p.V192G|TBL1X_ENST00000424279.1_Missense_Mutation_p.V192G	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	243					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TGGAATCCTGTCAGTGATTTG	0.547													25	46					0	0	0	0	G	9659730	T	G	9659730	3	3	167	1	0	0	0	0	1	0	0	0	15733	1667	58	5	746	5	TBL1X	23	9659730	Missense_Mutation	SNP	T	TCGA-CQ-A4CG-01A-11D-A25Y-08		9659730	145610830	83	29921											
DMD	1756	broad.mit.edu	37	chrX	32509576	32509576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttagcaactggcagaattCgatccaccggctgttcagtt	10	11	9	11	2	1	1	1	0	0	1	3	2	2	1	2	2	2	5	2	2	3	4			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chrX:32509576C>T	ENST00000357033.4	-	20	2646	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	DMD_ENST00000378677.2_Missense_Mutation_p.E810K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	814					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGCAGAATTCGATCCACCGG	0.408													19	43					0	0	0	0	T	32509576	C	T	32509576	3	4	167	1	0	0	0	0	1	0	0	0	4617	893	31	1	9100	1	DMD	23	32509576	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	22849846	32509576	122760984	84	29922											
CLCN5	1184	broad.mit.edu	37	chrX	49840630	49840630	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagcttatcatcagcaCagatgaggtaacatgtagtg	12	10	10	9	0	2	2	2	1	0	1	3	2	3	2	1	1	3	4	1	1	3	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chrX:49840630C>A	ENST00000376088.3	+	7	1237	c.596C>A	c.(595-597)aCa>aAa	p.T199K	CLCN5_ENST00000376091.3_Missense_Mutation_p.T199K|CLCN5_ENST00000376108.3_Missense_Mutation_p.T129K|CLCN5_ENST00000307367.2_Missense_Mutation_p.T129K	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	129					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATCATCAGCACAGATGAGGTA	0.388													22	55					8.10497e-08	9.2519e-08	1	0	A	49840630	C	A	49840630	3	1	167	1	0	0	0	0	1	0	0	0	3496	478	17	4	614	4	CLCN5	23	49840630	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	17331054	49840630	105429930	85	29923											
DGAT2L6	347516	broad.mit.edu	37	chrX	69420157	69420158	+	Frame_Shift_Ins	INS	-	-	C																															aactacatcattgccaatcaINScccccatggcattctctctt																										TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chrX:69420157_69420158insC	ENST00000333026.3	+	4	420_421	c.320_321insC	c.(319-321)cccfs	p.P107fs		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	107					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						ATTGCCAATCACCCCCATGGCA	0.465													22	67	---	---	---	---					C	69420158	-	C	69420157	7	5	167	1	0	1	1	0	0	0	0	0	4496	159	6	0	334	0	DGAT2L6	23	69420157	Frame_Shift_Ins	INS	-	TCGA-CQ-A4CG-01A-11D-A25Y-08	19579527	69420157	85850403	86	29924	229	2									
DGAT2L6	347516	broad.mit.edu	37	chrX	69420163	69420163	+	Missense_Mutation	SNP	A	A	C																															catcattgccaatcacccccAtggcattctctcttttggtg																										TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chrX:69420163A>C	ENST00000333026.3	+	4	426	c.326A>C	c.(325-327)cAt>cCt	p.H109P		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	109					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						AATCACCCCCATGGCATTCTC	0.463													27	54					0	0	0	0	C	69420163	A	C	69420163	3	2	167	1	0	0	0	0	1	0	0	0	4496	217	8	5	340	5	DGAT2L6	23	69420163	Missense_Mutation	SNP	A	TCGA-CQ-A4CG-01A-11D-A25Y-08	6	69420163	85850397	87	29925	229	2									
CHM	1121	broad.mit.edu	37	chrX	85218989	85218989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcttctgtggagtttGcagatgtcacaagagcatga	10	11	12	8	0	2	3	1	1	1	2	2	4	2	4	0	1	4	5	0	1	1	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chrX:85218989G>T	ENST00000357749.2	-	5	412	c.383C>A	c.(382-384)gCa>gAa	p.A128E	CHM_ENST00000537751.1_5'UTR|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	128					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGTGGAGTTTGCAGATGTCAC	0.433													20	65					2.4624e-09	2.83762e-09	1	0	T	85218989	G	T	85218989	3	4	167	1	0	0	0	0	1	0	0	0	3379	1319	46	4	1622	4	CHM	23	85218989	Missense_Mutation	SNP	G	TCGA-CQ-A4CG-01A-11D-A25Y-08	15798826	85218989	70051571	88	29926											
DOCK11	139818	broad.mit.edu	37	chrX	117676917	117676917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gataggtcgtcaacgcagaaCggtgcagtctactgtaccag	11	8	12	10	3	2	1	1	0	1	1	3	2	2	1	1	2	5	3	1	2	5	3			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chrX:117676917C>T	ENST00000276204.6	+	3	322	c.248C>T	c.(247-249)aCg>aTg	p.T83M	DOCK11_ENST00000276202.7_Missense_Mutation_p.T83M			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	83	Interaction with activated CDC42 (By similarity).				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAACGCAGAACGGTGCAGTCT	0.398													18	64					0	0	0	0	T	117676917	C	T	117676917	3	4	167	1	0	0	0	0	1	0	0	0	4722	536	19	1	258	1	DOCK11	23	117676917	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	32457928	117676917	37593643	89	29927											
AKAP14	158798	broad.mit.edu	37	chrX	119037536	119037536	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggtcttaaacaaattgAcgaatatttttcggtaagtt	15	14	8	4	2	1	1	0	1	1	0	2	2	1	1	0	2	1	2	0	2	7	7			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chrX:119037536A>C	ENST00000371431.3	+	4	522	c.248A>C	c.(247-249)gAc>gCc	p.D83A	AKAP14_ENST00000371423.2_Missense_Mutation_p.D83A|AKAP14_ENST00000371422.1_Missense_Mutation_p.D83A|AKAP14_ENST00000394594.2_Missense_Mutation_p.D83A|AKAP14_ENST00000334356.2_Missense_Mutation_p.D83A|AKAP14_ENST00000371425.4_Missense_Mutation_p.D83A	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	83						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AAACAAATTGACGAATATTTT	0.418													21	43					0	0	0	0	C	119037536	A	C	119037536	3	2	167	1	0	0	0	0	1	0	0	0	450	275	10	5	254	5	AKAP14	23	119037536	Missense_Mutation	SNP	A	TCGA-CQ-A4CG-01A-11D-A25Y-08	1360619	119037536	36233024	90	29928											
ZNF449	203523	broad.mit.edu	37	chrX	134483099	134483099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacggcacacataccaccaaCcatgcacctagagtcacctg	14	5	6	16	1	1	1	1	0	0	1	1	1	1	1	5	1	4	2	5	1	4	2			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009CBFF6-7773-4AD9-A8A3-4770AF607598	08CF1852-84BF-4AF9-B7EA-12D38A3749FB	g.chrX:134483099C>A	ENST00000339249.4	+	3	559	c.419C>A	c.(418-420)aCc>aAc	p.T140N		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	140					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATACCACCAACCATGCACCTA	0.567													64	150					5.5144e-22	6.95045e-22	1	0	A	134483099	C	A	134483099	3	1	167	1	0	0	0	0	1	0	0	0	18015	507	18	4	425	4	ZNF449	23	134483099	Missense_Mutation	SNP	C	TCGA-CQ-A4CG-01A-11D-A25Y-08	15445563	134483099	20787461	91	29929											
PTCHD2	57540	broad.mit.edu	37	chr1	11561829	11561829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgctgggactactcgcgCgcctatgtgagtgccaacac	7	8	12	14	5	0	1	0	1	0	0	2	2	0	2	2	1	3	1	2	1	3	2			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr1:11561829C>T	ENST00000294484.6	+	2	918	c.780C>T	c.(778-780)cgC>cgT	p.R260R	PTCHD2_ENST00000389575.3_Silent_p.R260R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	260					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACTACTCGCGCGCCTATGTGA	0.682													3	18					0	0	0	0	T	11561829	C	T	11561829	2	4	168	1	0	0	0	0	0	0	0	1	12812	755	27	1		1	PTCHD2	1	11561829	Silent	SNP	C	TCGA-CQ-A4CH-01A-11D-A25Y-08		11561829	237688792	1	29930											
DBT	1629	broad.mit.edu	37	chr1	100684276	100684276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcatcatgagacactgcaGgagtttcaacaacatcttct	12	12	7	10	0	5	1	3	1	2	1	5	3	5	2	0	1	3	3	0	1	2	3			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr1:100684276G>A	ENST00000370132.3	-	5	474	c.461C>T	c.(460-462)cCt>cTt	p.P154L	DBT_ENST00000370131.3_Missense_Mutation_p.P154L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	154					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGACACTGCAGGAGTTTCAAC	0.373													8	171					0	0	0	0	A	100684276	G	A	100684276	3	1	168	1	0	0	0	0	1	0	0	0	4291	1000	35	4	1015	4	DBT	1	100684276	Missense_Mutation	SNP	G	TCGA-CQ-A4CH-01A-11D-A25Y-08	89122447	100684276	148566345	2	29931											
IQGAP3	128239	broad.mit.edu	37	chr1	156542309	156542309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagcctgggcccgctgCtctcctctccatgttcctcc	2	11	8	20	1	2	0	0	0	2	0	6	0	4	0	7	1	3	3	7	1	0	1			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr1:156542309C>T	ENST00000361170.2	-	1	23	c.13G>A	c.(13-15)Gca>Aca	p.A5T		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	5					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGCCCGCTGCTCTCCTCTCC	0.662													10	231					0	0	0	0	T	156542309	C	T	156542309	3	4	168	1	0	0	0	0	1	0	0	0	7869	797	28	4	5034	4	IQGAP3	1	156542309	Missense_Mutation	SNP	C	TCGA-CQ-A4CH-01A-11D-A25Y-08	55858033	156542309	92708312	3	29932											
NEUROD1	4760	broad.mit.edu	37	chr2	182543278	182543278	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgggcgttagccttcaTgcgtctcaatttaaaacgct	8	12	8	13	4	2	0	2	0	1	0	4	0	3	0	2	1	3	2	2	1	4	4			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr2:182543278T>G	ENST00000295108.3	-	2	767	c.310A>C	c.(310-312)Atg>Ctg	p.M104L	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	104					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTAGCCTTCATGCGTCTCAAT	0.547													5	69					0	0	0	0	G	182543278	T	G	182543278	3	3	168	1	0	0	0	0	1	0	0	0	10418	1464	51	5	764	5	NEUROD1	2	182543278	Missense_Mutation	SNP	T	TCGA-CQ-A4CH-01A-11D-A25Y-08		182543278	60656095	4	29933											
ANKAR	150709	broad.mit.edu	37	chr2	190584538	190584538	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaggatgttattgccaaatAtgtaagttcctttcatatac	13	15	6	7	0	1	0	1	0	0	0	2	1	2	1	2	1	2	3	2	1	7	8			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr2:190584538A>G	ENST00000520309.1	+	11	2553	c.2466_splice	c.e11+1	p.Y822_splice	ANKAR_ENST00000438402.2_Splice_Site_p.Y822_splice|ANKAR_ENST00000281412.6_Splice_Site_p.Y586_splice|ANKAR_ENST00000431575.2_Splice_Site_p.Y751_splice|ANKAR_ENST00000313581.4_Splice_Site_p.Y822_splice	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	822						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATTGCCAAATATGTAAGTTCC	0.343													4	41					0	0	0	0	G	190584538	A	G	190584538	5	3	168	1	0	0	0	0	0	0	1	0	623	463	16	5	2503	5	ANKAR	2	190584538	Splice_Site	SNP	A	TCGA-CQ-A4CH-01A-11D-A25Y-08	8041260	190584538	52614835	5	29934											
MARCH4	57574	broad.mit.edu	37	chr2	217234886	217234886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgaggagaccctggtggCgcaacatctggggggctggg	7	7	18	9	1	1	2	0	1	1	1	1	3	1	2	1	7	1	2	1	7	1	1			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr2:217234886C>T	ENST00000273067.4	-	1	1864	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	33						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		ACCCTGGTGGCGCAACATCTG	0.632													3	9					0	0	0	0	T	217234886	C	T	217234886	3	4	168	1	0	0	0	0	1	0	0	0	9372	768	27	1	1150	1	MARCH4	2	217234886	Missense_Mutation	SNP	C	TCGA-CQ-A4CH-01A-11D-A25Y-08	26650348	217234886	25964487	6	29935											
SI	6476	broad.mit.edu	37	chr3	164758883	164758883	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatgcaggatcctgatgCtgtgagatagaaagagaaat	18	8	11	4	0	0	4	0	2	0	3	1	7	1	5	1	1	2	2	1	1	5	1			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr3:164758883C>T	ENST00000264382.3	-	18	2067		c.e18-1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GATCCTGATGCTGTGAGATAG	0.318										HNSCC(35;0.089)			8	110					0	0	0	0	T	164758883	C	T	164758883	5	4	168	1	0	0	0	0	0	0	1	0	14385	811	28	4	3603	4	SI	3	164758883	Splice_Site	SNP	C	TCGA-CQ-A4CH-01A-11D-A25Y-08		164758883	33263547	7	29936											
PCDHGC4	56098	broad.mit.edu	37	chr5	140866238	140866238	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactcctggagcccaggaatCgagatgtatcagcttcctct	9	10	9	13	1	2	1	1	0	1	1	5	4	4	3	3	2	2	2	3	2	2	2			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr5:140866238C>T	ENST00000306593.1	+	1	1498	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*	PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAGGAATCGAGATGTATC	0.527													11	158					0	0	0	0	T	140866238	C	T	140866238	4	4	168	1	0	0	0	0	0	1	0	0	11641	876	31	1	1500	1	PCDHGC4	5	140866238	Nonsense_Mutation	SNP	C	TCGA-CQ-A4CH-01A-11D-A25Y-08		140866238	40049022	8	29937											
GCM2	9247	broad.mit.edu	37	chr6	10877387	10877387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcactctgctgtttcagcCgtgccttgtcgcagatggcc	4	12	10	15	2	3	1	2	0	1	1	4	1	3	1	4	1	3	3	4	1	0	2			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr6:10877387C>T	ENST00000379491.4	-	2	476	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	110			R -> W (in FIH; abolishes DNA binding ability).		cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTGTTTCAGCCGTGCCTTGTC	0.562													5	101					0	0	0	0	T	10877387	C	T	10877387	3	4	168	1	0	0	0	0	1	0	0	0	6347	652	23	1	1207	1	GCM2	6	10877387	Missense_Mutation	SNP	C	TCGA-CQ-A4CH-01A-11D-A25Y-08		10877387	160237680	9	29938											
ZFP57	346171	broad.mit.edu	37	chr6	29640669	29640669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagttgggcggctctgtgaGgtgggccttctggtgtctgg	2	13	19	7	1	3	1	0	1	3	0	3	1	3	1	1	6	0	3	1	6	1	3			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr6:29640669G>T	ENST00000376883.1	-	6	1570	c.1159C>A	c.(1159-1161)Ctc>Atc	p.L387I	ZFP57_ENST00000376881.3_Missense_Mutation_p.L387I|ZFP57_ENST00000488757.1_Missense_Mutation_p.L407I			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	323					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GGCTCTGTGAGGTGGGCCTTC	0.502													31	380					1.06801e-11	1.1443e-11	1	0	T	29640669	G	T	29640669	3	4	168	1	0	0	0	0	1	0	0	0	17746	1000	35	4	395	4	ZFP57	6	29640669	Missense_Mutation	SNP	G	TCGA-CQ-A4CH-01A-11D-A25Y-08	18763282	29640669	141474398	10	29939											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736													5	48					0	0	0	0	A	45390463	G	A	45390463	2	1	168	1	0	0	0	0	0	0	0	1	13833	962	34	4		4	RUNX2	6	45390463	Silent	SNP	G	TCGA-CQ-A4CH-01A-11D-A25Y-08	15749794	45390463	125724604	11	29940											
MTHFD1L	25902	broad.mit.edu	37	chr6	151336665	151336665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactaggaccgacacccgcGctgagattgacttggtgtgt	8	10	12	11	3	1	2	1	2	0	1	1	5	1	3	2	2	0	1	2	2	1	3			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr6:151336665G>A	ENST00000367321.3	+	24	2696	c.2422G>A	c.(2422-2424)Gct>Act	p.A808T		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	808	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CGACACCCGCGCTGAGATTGA	0.473													9	124					0	0	0	0	A	151336665	G	A	151336665	3	1	168	1	0	0	0	0	1	0	0	0	9998	1087	38	1	2516	1	MTHFD1L	6	151336665	Missense_Mutation	SNP	G	TCGA-CQ-A4CH-01A-11D-A25Y-08	105946202	151336665	19778402	12	29941											
FZD9	8326	broad.mit.edu	37	chr7	72849938	72849938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtggagctccaagacttTccagacctggcagagcctgt	8	9	13	11	0	0	3	0	0	0	3	2	4	2	4	4	3	2	2	4	3	1	1			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr7:72849938T>C	ENST00000344575.3	+	1	1830	c.1601T>C	c.(1600-1602)tTc>tCc	p.F534S		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	534					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCAAGACTTTCCAGACCTGG	0.662													6	79					0	0	0	0	C	72849938	T	C	72849938	3	2	168	1	0	0	0	0	1	0	0	0	6185	1783	62	5	1603	5	FZD9	7	72849938	Missense_Mutation	SNP	T	TCGA-CQ-A4CH-01A-11D-A25Y-08		72849938	86288725	13	29942											
POMZP3	22932	broad.mit.edu	37	chr7	76254844	76254844	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgagcctgttaccttctTttattttcctggccatcaag	6	17	6	12	0	2	1	1	1	1	0	4	1	4	1	5	1	2	1	5	1	3	6			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr7:76254844T>G	ENST00000310842.4	-	3	906	c.222A>C	c.(220-222)aaA>aaC	p.K74N	UPK3B_ENST00000443097.2_Intron|POMZP3_ENST00000275569.4_Missense_Mutation_p.K74N|UPK3B_ENST00000419923.2_Intron|AC004980.7_ENST00000418663.1_RNA	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	74										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				GTTACCTTCTTTTATTTTCCT	0.463													11	358					0	0	0	0	G	76254844	T	G	76254844	3	3	168	1	0	0	0	0	1	0	0	0	12319	1838	64	5	364	5	POMZP3	7	76254844	Missense_Mutation	SNP	T	TCGA-CQ-A4CH-01A-11D-A25Y-08	3404906	76254844	82883819	14	29943											
DBF4	10926	broad.mit.edu	37	chr7	87537388	87537388	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagagtggtatatgcaaTgttttagatatttgggaaga	15	13	12	1	0	0	3	0	0	0	3	0	5	0	4	0	2	1	3	0	2	8	6			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr7:87537388T>A	ENST00000265728.1	+	12	2439	c.1935T>A	c.(1933-1935)aaT>aaA	p.N645K		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	645					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GTATATGCAATGTTTTAGATA	0.348													6	110					0	0	0	0	A	87537388	T	A	87537388	3	1	168	1	0	0	0	0	1	0	0	0	4281	1461	51	5	1981	5	DBF4	7	87537388	Missense_Mutation	SNP	T	TCGA-CQ-A4CH-01A-11D-A25Y-08	11282544	87537388	71601275	15	29944											
MUC17	140453	broad.mit.edu	37	chr7	100677606	100677606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctcctacaactgctgaagGtaccagcataccaacctcga	13	8	6	14	1	1	1	0	1	1	0	3	2	1	1	4	1	7	3	4	1	6	3			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr7:100677606G>T	ENST00000306151.4	+	3	2973	c.2909G>T	c.(2908-2910)gGt>gTt	p.G970V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	970	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTGCTGAAGGTACCAGCATA	0.512													17	477					1.5739e-10	1.6471e-10	1	0	T	100677606	G	T	100677606	3	4	168	1	0	0	0	0	1	0	0	0	10044	1261	44	4	2919	4	MUC17	7	100677606	Missense_Mutation	SNP	G	TCGA-CQ-A4CH-01A-11D-A25Y-08	13140218	100677606	58461057	16	29945											
DOCK5	80005	broad.mit.edu	37	chr8	25203031	25203031	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgctgacagaccagctCagcggccagttagatgacaa	12	6	10	13	1	1	4	1	2	0	2	1	4	1	4	3	1	3	3	3	1	2	1			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr8:25203031C>A	ENST00000276440.7	+	26	2702	c.2658C>A	c.(2656-2658)ctC>ctA	p.L886L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	886						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGACCAGCTCAGCGGCCAGT	0.557													6	138					2.7689e-08	2.83183e-08	1	0	A	25203031	C	A	25203031	2	1	168	1	0	0	0	0	0	0	0	1	4726	813	29	2		2	DOCK5	8	25203031	Silent	SNP	C	TCGA-CQ-A4CH-01A-11D-A25Y-08		25203031	121160991	17	29946											
FZD8	8325	broad.mit.edu	37	chr10	35929680	35929680	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacccgggctcgcagggAgccgcgccgccgccaggggg	4	2	19	16	6	0	0	0	0	0	0	1	1	0	1	5	5	1	3	5	5	0	0			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr10:35929680A>G	ENST00000374694.1	-	1	682	c.678T>C	c.(676-678)gcT>gcC	p.A226A		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	226					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GCTCGCAGGGAGCCGCGCCGC	0.791													3	11					0	0	0	0	G	35929680	A	G	35929680	2	3	168	1	0	0	0	0	0	0	0	1	6184	291	11	5		5	FZD8	10	35929680	Silent	SNP	A	TCGA-CQ-A4CH-01A-11D-A25Y-08		35929680	99605067	18	29947											
ALOX5	240	broad.mit.edu	37	chr10	45924084	45924084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagggaacattttcatcGtggactttgagctgctggat	10	12	12	7	1	1	1	1	1	0	0	2	4	1	4	0	3	4	3	0	3	2	3			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr10:45924084G>A	ENST00000374391.2	+	7	906	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	ALOX5_ENST00000542434.1_Missense_Mutation_p.V285M	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	285	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CATTTTCATCGTGGACTTTGA	0.532													4	45					0	0	0	0	A	45924084	G	A	45924084	3	1	168	1	0	0	0	0	1	0	0	0	540	1145	40	1	879	1	ALOX5	10	45924084	Missense_Mutation	SNP	G	TCGA-CQ-A4CH-01A-11D-A25Y-08	9994404	45924084	89610663	19	29948											
OMP	4975	broad.mit.edu	37	chr11	76814248	76814248	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagattggaatgaggccgaCgccctggagtttggggagcg	9	8	17	7	3	0	2	0	1	0	1	0	6	0	5	2	5	1	1	2	5	2	3			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr11:76814248C>T	ENST00000529803.1	+	1	363	c.363C>T	c.(361-363)gaC>gaT	p.D121D	CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	121					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						ATGAGGCCGACGCCCTGGAGT	0.617													7	70					0	0	0	0	T	76814248	C	T	76814248	2	4	168	1	0	0	0	0	0	0	0	1	10938	535	19	1		1	OMP	11	76814248	Silent	SNP	C	TCGA-CQ-A4CH-01A-11D-A25Y-08		76814248	58192268	20	29949											
SCN8A	6334	broad.mit.edu	37	chr12	52145365	52145365	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttgaacatgtcttggcTgtaggaaatctggtaagatg	12	13	11	5	0	2	2	0	1	2	1	2	3	2	3	0	3	1	3	0	3	5	4			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr12:52145365T>A	ENST00000354534.5	+	14	2536	c.2358T>A	c.(2356-2358)gcT>gcA	p.A786A	SCN8A_ENST00000550891.1_Silent_p.A786A|SCN8A_ENST00000545061.1_Silent_p.A786A	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	786					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATGTCTTGGCTGTAGGAAATC	0.423													10	67					0	0	0	0	A	52145365	T	A	52145365	2	1	168	1	0	0	0	0	0	0	0	1	14011	1567	55	5		5	SCN8A	12	52145365	Silent	SNP	T	TCGA-CQ-A4CH-01A-11D-A25Y-08		52145365	81706530	21	29950											
SLC46A3	283537	broad.mit.edu	37	chr13	29287531	29287531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagcaaacagagccaaaCgctggttgcaagagcaccaa	17	3	10	11	1	0	2	0	0	0	2	0	2	0	2	2	1	6	6	2	1	5	1			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr13:29287531C>T	ENST00000266943.6	-	3	715	c.346G>A	c.(346-348)Gtt>Att	p.V116I	SLC46A3_ENST00000380814.4_Missense_Mutation_p.V116I	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	116					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CAGAGCCAAACGCTGGTTGCA	0.413													6	64					0	0	0	0	T	29287531	C	T	29287531	3	4	168	1	0	0	0	0	1	0	0	0	14734	536	19	1	1069	1	SLC46A3	13	29287531	Missense_Mutation	SNP	C	TCGA-CQ-A4CH-01A-11D-A25Y-08		29287531	85882347	22	29951											
GRK1	6011	broad.mit.edu	37	chr13	114322035	114322035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaggcccagaccatcctgGcccagtacctggacccccag	10	4	10	17	0	0	2	0	0	0	2	1	3	1	3	7	3	1	1	7	3	2	1			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr13:114322035G>A	ENST00000335678.6	+	1	566	c.334G>A	c.(334-336)Gcc>Acc	p.A112T		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	112	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GACCATCCTGGCCCAGTACCT	0.602													14	49					0	0	0	0	A	114322035	G	A	114322035	3	1	168	1	0	0	0	0	1	0	0	0	6840	1203	42	4	336	4	GRK1	13	114322035	Missense_Mutation	SNP	G	TCGA-CQ-A4CH-01A-11D-A25Y-08	85034504	114322035	847843	23	29952											
AKAP6	9472	broad.mit.edu	37	chr14	33243055	33243055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccattgtcatgcaagccGtccagtggcaaacacgtcta	12	8	9	12	2	2	0	1	0	1	0	3	0	3	0	3	1	4	2	3	1	4	2			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr14:33243055G>A	ENST00000280979.4	+	12	3714	c.3544G>A	c.(3544-3546)Gtc>Atc	p.V1182I	AKAP6_ENST00000557272.1_Missense_Mutation_p.V1182I	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1182					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)		CATGCAAGCCGTCCAGTGGCA	0.428													8	60					0	0	0	0	A	33243055	G	A	33243055	3	1	168	1	0	0	0	0	1	0	0	0	455	1145	40	1	3586	1	AKAP6	14	33243055	Missense_Mutation	SNP	G	TCGA-CQ-A4CH-01A-11D-A25Y-08		33243055	74106485	24	29953											
DUOX2	50506	broad.mit.edu	37	chr15	45391947	45391947	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggttgaggaaagtctctcGcaggaaggttatgaggttgc	9	10	16	6	2	1	2	0	2	1	0	3	4	1	4	0	5	1	4	0	5	3	3			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr15:45391947G>A	ENST00000389039.6	-	25	3713	c.3328C>T	c.(3328-3330)Cga>Tga	p.R1110*	DUOX2_ENST00000603300.1_Nonsense_Mutation_p.R1110*			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1110	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AAAGTCTCTCGCAGGAAGGTT	0.572													7	97					0	0	0	0	A	45391947	G	A	45391947	4	1	168	1	0	0	0	0	0	1	0	0	4837	1095	38	1	1358	1	DUOX2	15	45391947	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CH-01A-11D-A25Y-08		45391947	57139445	25	29954											
TP53	7157	broad.mit.edu	37	chr17	7579703	7579703	+	Frame_Shift_Del	DEL	A	A	-																															ccaacccttgtccttaccagAacgttgttttcaggaagtct																										TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr17:7579703delA	ENST00000420246.2	-	3	225	c.93delT	c.(91-93)gtfs	p.V31fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.V31fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V31fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V31fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V31fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V31fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	31	Interaction with HRMT1L2.|Transcription activation (acidic).		V -> I (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P13fs*18(1)|p.L26fs*11(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCCTTACCAGAACGTTGTTTT	0.597		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	92	---	---	---	---					-	7579703	A	-	7579703	7	5	168	1	0	1	0	1	0	0	0	0	16476	233	9	0	1213	0	TP53	17	7579703	Frame_Shift_Del	DEL	A	TCGA-CQ-A4CH-01A-11D-A25Y-08		7579703	73615507	26	29955											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-																															tccagttatgcccagctcctTcctcctcctcctcctcctct																										TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													7	42	---	---	---	---					-	12986929	TCC	-	12986927	7	5	168	1	0	1	0	1	0	0	0	0	14096	1770	62	0	1188	0	SEH1L	18	12986927	In_Frame_Del	DEL	TCC	TCGA-CQ-A4CH-01A-11D-A25Y-08		12986927	65090321	27	29956											
MAP3K10	4294	broad.mit.edu	37	chr19	40715068	40715068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggataagcggaaaggatcCgatggggccagcccccctgc	9	5	14	13	2	0	0	0	0	0	0	1	4	1	3	5	5	3	0	5	5	2	1			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr19:40715068C>T	ENST00000253055.3	+	6	1782	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	498					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGAAAGGATCCGATGGGGCCA	0.562													6	107					0	0	0	0	T	40715068	C	T	40715068	2	4	168	1	0	0	0	0	0	0	0	1	9313	639	23	1		1	MAP3K10	19	40715068	Silent	SNP	C	TCGA-CQ-A4CH-01A-11D-A25Y-08		40715068	18413915	28	29957											
ZNF616	90317	broad.mit.edu	37	chr19	52619793	52619793	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttgtaaggtttctctgtAgtatgtatcctctgatgatt	8	19	8	6	0	2	2	0	2	2	0	4	2	3	2	1	1	0	5	1	1	4	7			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr19:52619793A>G	ENST00000600228.1	-	4	885	c.624T>C	c.(622-624)acT>acC	p.T208T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTTTCTCTGTAGTATGTATCC	0.398													7	162					0	0	0	0	G	52619793	A	G	52619793	2	3	168	1	0	0	0	0	0	0	0	1	18136	407	15	5		5	ZNF616	19	52619793	Silent	SNP	A	TCGA-CQ-A4CH-01A-11D-A25Y-08	11904725	52619793	6509190	29	29958											
UQCR10	29796	broad.mit.edu	37	chr22	30163555	30163555	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggtgagggcctgtgccatCcctgaccttggacccgcctg	4	8	15	14	1	0	2	0	2	0	0	1	3	1	3	6	4	1	0	6	4	0	1			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr22:30163555C>T	ENST00000401406.3	+	1	193	c.168C>T	c.(166-168)atC>atT	p.I56I	UQCR10_ENST00000330029.6_Intron			Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	0					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						CCTGTGCCATCCCTGACCTTG	0.592													5	29					0	0	0	0	T	30163555	C	T	30163555	2	4	168	1	0	0	0	0	0	0	0	1	17112	845	30	2		2	UQCR10	22	30163555	Silent	SNP	C	TCGA-CQ-A4CH-01A-11D-A25Y-08		30163555	21141011	30	29959											
MTMR3	8897	broad.mit.edu	37	chr22	30408409	30408409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatcacttgtctgtgcttCtgaaatcagcgcttctggta	7	15	8	11	1	5	1	2	1	3	0	6	1	6	1	1	1	2	3	1	1	2	4			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chr22:30408409C>G	ENST00000333027.3	+	13	1502	c.1174C>G	c.(1174-1176)Ctg>Gtg	p.L392V	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Missense_Mutation_p.L392V|MTMR3_ENST00000323630.5_Missense_Mutation_p.L256V|MTMR3_ENST00000351488.3_Missense_Mutation_p.L392V|MTMR3_ENST00000406629.1_Missense_Mutation_p.L392V	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	392	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTCTGTGCTTCTGAAATCAGC	0.473													10	314					0	0	0	0	G	30408409	C	G	30408409	3	3	168	1	0	0	0	0	1	0	0	0	10015	912	32	2	1216	2	MTMR3	22	30408409	Missense_Mutation	SNP	C	TCGA-CQ-A4CH-01A-11D-A25Y-08	244854	30408409	20896157	31	29960											
THOC2	57187	broad.mit.edu	37	chrX	122759892	122759892	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatatacacagctgtagaaaTtttgtgatggtctcattttt	12	17	7	5	0	1	2	1	1	1	1	2	2	1	2	0	1	2	2	0	1	5	7			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B77AA7FA-403B-4EE1-B537-695A799C80F5	92E8B340-322E-4411-95D8-7DB81767F660	g.chrX:122759892T>C	ENST00000245838.8	-	25	2959	c.2928A>G	c.(2926-2928)aaA>aaG	p.K976K	THOC2_ENST00000491737.1_Silent_p.K861K|THOC2_ENST00000355725.4_Silent_p.K976K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	976					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GCTGTAGAAATTTTGTGATGG	0.343													7	57					0	0	0	0	C	122759892	T	C	122759892	2	2	168	1	0	0	0	0	0	0	0	1	15959	1490	52	5		5	THOC2	23	122759892	Silent	SNP	T	TCGA-CQ-A4CH-01A-11D-A25Y-08		122759892	32510668	32	29961											
SLC45A1	50651	broad.mit.edu	37	chr1	8386060	8386060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatggacgtgtgcagccccGcagaccaggaccgaggcctg	8	5	15	13	3	0	2	0	1	0	1	0	5	0	4	5	3	2	2	5	3	0	0			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr1:8386060G>A	ENST00000471889.1	+	4	1058	c.673G>A	c.(673-675)Gca>Aca	p.A225T	SLC45A1_ENST00000289877.8_Missense_Mutation_p.A225T|SLC45A1_ENST00000377479.2_Missense_Mutation_p.A259T			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	225					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCAGCCCCGCAGACCAGGA	0.657													47	17					0	0	0	0	A	8386060	G	A	8386060	3	1	169	1	0	0	0	0	1	0	0	0	14728	1087	38	1	683	1	SLC45A1	1	8386060	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08		8386060	240864561	1	29962											
DAB1	1600	broad.mit.edu	37	chr1	57535057	57535057	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaatgttttcttccgtttcGggatcacggattggctcgtg	6	16	11	8	4	2	0	1	0	1	0	5	2	3	2	1	3	0	3	1	3	2	6			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr1:57535057G>T	ENST00000371236.2	-	8	902	c.639C>A	c.(637-639)ccC>ccA	p.P213P	DAB1_ENST00000371234.4_Silent_p.P213P|DAB1_ENST00000371231.1_Silent_p.P213P|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	213					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTCCGTTTCGGGATCACGGA	0.408													15	74					3.32936e-07	3.54985e-07	1	0	T	57535057	G	T	57535057	2	4	169	1	0	0	0	0	0	0	0	1	4250	1103	39	3		3	DAB1	1	57535057	Silent	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	49148997	57535057	191715564	2	29963											
DUSP27	92235	broad.mit.edu	37	chr1	167097229	167097229	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcctttccaaagtgactGgtctggaagttccagaggga	10	10	11	10	0	1	2	0	1	1	1	4	4	4	4	4	3	0	1	4	3	2	2			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr1:167097229G>A	ENST00000361200.2	+	6	3027	c.2861G>A	c.(2860-2862)tGg>tAg	p.W954*	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.W954*|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.W954*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	954	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAAAGTGACTGGTCTGGAAGT	0.483													15	41					0	0	0	0	A	167097229	G	A	167097229	4	1	169	1	0	0	0	0	0	1	0	0	4860	1357	47	4	2879	4	DUSP27	1	167097229	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	109562172	167097229	82153392	3	29964											
CACNA1S	779	broad.mit.edu	37	chr1	201047050	201047050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggatgcagcggagcaCggagatgcccaggggtgtca	9	4	19	9	3	1	1	1	0	0	1	1	5	1	3	1	6	4	2	1	6	0	0			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr1:201047050C>T	ENST00000362061.3	-	11	1802	c.1576G>A	c.(1576-1578)Gtg>Atg	p.V526M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V526M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	526					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAGCGGAGCACGGAGATGCCC	0.632													27	48					0	0	0	0	T	201047050	C	T	201047050	3	4	169	1	0	0	0	0	1	0	0	0	2572	536	19	1	4181	1	CACNA1S	1	201047050	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	33949821	201047050	48203571	4	29965											
CNTN2	6900	broad.mit.edu	37	chr1	205039043	205039043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactcactggcagaccgcccGggtgcctggcgccgatgccc	5	5	13	18	4	1	1	1	0	0	1	1	2	1	1	5	3	2	1	5	3	0	0			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr1:205039043G>A	ENST00000331830.4	+	18	2569	c.2285G>A	c.(2284-2286)cGg>cAg	p.R762Q		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	762	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGACCGCCCGGGTGCCTGGC	0.652													121	119					0	0	0	0	A	205039043	G	A	205039043	3	1	169	1	0	0	0	0	1	0	0	0	3671	1116	39	1	2351	1	CNTN2	1	205039043	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	3991993	205039043	44211578	5	29966											
CR1L	1379	broad.mit.edu	37	chr1	207874869	207874869	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttcccacaggtaaaTcatgtgaaactcctccagtt	10	15	5	11	0	2	1	1	1	1	0	5	1	5	1	3	1	1	2	3	1	3	5			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr1:207874869T>A	ENST00000508064.2	+	9	1294	c.1234T>A	c.(1234-1236)Tca>Aca	p.S412T	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	412	Sushi 7.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CACAGGTAAATCATGTGAAAC	0.433													77	12					0	0	0	0	A	207874869	T	A	207874869	3	1	169	1	0	0	0	0	1	0	0	0	3871	1435	50	5	1268	5	CR1L	1	207874869	Missense_Mutation	SNP	T	TCGA-CQ-A4CI-01A-11D-A25Y-08	2835826	207874869	41375752	6	29967											
CCDC121	79635	broad.mit.edu	37	chr2	27850447	27850447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatatctggaggctgattCttgtcttcttcgttcaatct	6	18	8	9	1	6	1	1	1	5	0	7	2	6	2	0	2	1	3	0	2	2	6			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr2:27850447C>T	ENST00000324364.3	-	2	400	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	CCDC121_ENST00000394775.3_Missense_Mutation_p.E236K|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Intron	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	74										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GAGGCTGATTCTTGTCTTCTT	0.403													136	209					0	0	0	0	T	27850447	C	T	27850447	3	4	169	1	0	0	0	0	1	0	0	0	2782	922	32	2	620	2	CCDC121	2	27850447	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08		27850447	215348926	7	29968											
LTBP1	4052	broad.mit.edu	37	chr2	33585721	33585721	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaatgctactataatcTcaatgacgccagtctctgtg	13	11	8	9	1	2	2	1	1	2	1	4	3	2	2	1	0	2	1	1	0	6	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr2:33585721T>A	ENST00000404816.2	+	27	4411	c.4058T>A	c.(4057-4059)cTc>cAc	p.L1353H	LTBP1_ENST00000402934.1_Missense_Mutation_p.L972H|LTBP1_ENST00000272273.5_Missense_Mutation_p.L251H|LTBP1_ENST00000407925.1_Missense_Mutation_p.L1027H|LTBP1_ENST00000354476.3_Missense_Mutation_p.L1354H|LTBP1_ENST00000418533.2_Missense_Mutation_p.L985H|LTBP1_ENST00000390003.4_Missense_Mutation_p.L1028H|LTBP1_ENST00000404525.1_Missense_Mutation_p.L974H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1353	TB 3.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TACTATAATCTCAATGACGCC	0.418													36	83					0	0	0	0	A	33585721	T	A	33585721	3	1	169	1	0	0	0	0	1	0	0	0	9137	1551	54	5	4219	5	LTBP1	2	33585721	Missense_Mutation	SNP	T	TCGA-CQ-A4CI-01A-11D-A25Y-08	5735274	33585721	209613652	8	29969											
SOS1	6654	broad.mit.edu	37	chr2	39281904	39281904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgaggtggaaggctcttCgtcagttaaagataatatat	12	13	10	6	1	2	2	1	1	1	1	4	3	3	3	1	3	0	2	1	3	6	5			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr2:39281904C>T	ENST00000426016.1	-	6	657	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	SOS1_ENST00000428721.2_Missense_Mutation_p.E134K|SOS1_ENST00000395038.2_Missense_Mutation_p.E191K|SOS1_ENST00000402219.2_Missense_Mutation_p.E191K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	191					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GAAGGCTCTTCGTCAGTTAAA	0.279									Noonan syndrome				63	105					0	0	0	0	T	39281904	C	T	39281904	3	4	169	1	0	0	0	0	1	0	0	0	15024	893	31	1	3506	1	SOS1	2	39281904	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	5696183	39281904	203917469	9	29970											
EXOC6B	23233	broad.mit.edu	37	chr2	72725629	72725629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagtttcactatattggtCtctgatttctaacagcatgt	10	16	7	8	0	3	2	1	1	2	1	4	2	3	2	0	1	2	2	0	1	3	6			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr2:72725629C>T	ENST00000272427.6	-	13	1421	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N	EXOC6B_ENST00000410104.1_Missense_Mutation_p.D431N	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	431					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTATATTGGTCTCTGATTTCT	0.353													12	16					0	0	0	0	T	72725629	C	T	72725629	3	4	169	1	0	0	0	0	1	0	0	0	5346	913	32	2	1184	2	EXOC6B	2	72725629	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	33443725	72725629	170473744	10	29971											
INO80B	83444	broad.mit.edu	37	chr2	74684886	74684886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catccgcgccgctacgcttgCtcccgcacaggccaggcact	6	6	10	19	5	0	0	0	0	0	0	2	0	2	0	4	2	2	5	4	2	1	2			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr2:74684886C>T	ENST00000233331.7	+	5	1060	c.966C>T	c.(964-966)tgC>tgT	p.C322C		NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	322					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GCTACGCTTGCTCCCGCACAG	0.706													18	24					0	0	0	0	T	74684886	C	T	74684886	2	4	169	1	0	0	0	0	0	0	0	1	7800	805	28	4		4	INO80B	2	74684886	Silent	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	1959257	74684886	168514487	11	29972											
EIF2AK3	9451	broad.mit.edu	37	chr2	88926546	88926546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accccgaggctcctgctctcCcgcggctgccggcagcgcct	3	6	12	20	5	1	0	0	0	1	0	3	1	2	0	6	3	3	4	6	3	0	0			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr2:88926546C>T	ENST00000303236.3	-	1	548	c.247G>A	c.(247-249)Gga>Aga	p.G83R		NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	83					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TCCTGCTCTCccgcggctgcc	0.726													12	13					0	0	0	0	T	88926546	C	T	88926546	3	4	169	1	0	0	0	0	1	0	0	0	5034	632	22	4	3171	4	EIF2AK3	2	88926546	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	14241660	88926546	154272827	12	29973											
SLC9A2	6549	broad.mit.edu	37	chr2	103324610	103324610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgactcagacgcagatgccGggaccaccgtgctcaatttg	9	7	12	13	4	2	2	2	0	0	2	2	4	2	3	3	1	2	2	3	1	1	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr2:103324610G>A	ENST00000233969.2	+	12	2243	c.2101G>A	c.(2101-2103)Ggg>Agg	p.G701R		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	701						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CGCAGATGCCGGGACCACCGT	0.498													48	70					0	0	0	0	A	103324610	G	A	103324610	3	1	169	1	0	0	0	0	1	0	0	0	14800	1116	39	1	2147	1	SLC9A2	2	103324610	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	14398064	103324610	139874763	13	29974											
SLC20A1	6574	broad.mit.edu	37	chr2	113418038	113418039	+	Frame_Shift_Ins	INS	-	-	A																															tcttcaaaagtggcaacaccINSaatatggcttctactctatg																										TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr2:113418038_113418039insA	ENST00000272542.3	+	9	2221_2222	c.1682_1683insA	c.(1681-1683)catfs	p.H561fs		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	561					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTGGCAACACCAATATGGCTTC	0.455													104	138	---	---	---	---					A	113418039	-	A	113418038	7	5	169	1	0	1	1	0	0	0	0	0	14526	594	21	0	1712	0	SLC20A1	2	113418038	Frame_Shift_Ins	INS	-	TCGA-CQ-A4CI-01A-11D-A25Y-08	10093428	113418038	129781335	14	29975											
MYO7B	4648	broad.mit.edu	37	chr2	128350410	128350410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggcagctgcgatactcGggcatgatggagaccgtgca	8	7	15	11	4	0	2	0	1	0	1	1	4	0	2	1	3	5	4	1	3	1	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr2:128350410G>A	ENST00000389524.4	+	17	2087	c.2034G>A	c.(2032-2034)tcG>tcA	p.S678S	MYO7B_ENST00000428314.1_Silent_p.S678S|MYO7B_ENST00000409816.2_Silent_p.S678S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	678	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGCGATACTCGGGCATGATGG	0.657													8	7					0	0	0	0	A	128350410	G	A	128350410	2	1	169	1	0	0	0	0	0	0	0	1	10153	1103	39	1		1	MYO7B	2	128350410	Silent	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	14932372	128350410	114848963	15	29976											
DHRS9	10170	broad.mit.edu	37	chr2	169938401	169938401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaccaagttggggagAaaggtgagagacatggaagt	16	6	16	3	0	0	5	0	2	0	3	0	8	0	6	1	4	1	1	1	4	5	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr2:169938401A>G	ENST00000327239.4	+	5	1814	c.310A>G	c.(310-312)Aaa>Gaa	p.K104E	DHRS9_ENST00000602501.1_Missense_Mutation_p.K104E|DHRS9_ENST00000436483.2_Missense_Mutation_p.K104E|DHRS9_ENST00000432060.2_Missense_Mutation_p.K164E|DHRS9_ENST00000428522.1_Missense_Mutation_p.K104E|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Missense_Mutation_p.K104E|DHRS9_ENST00000412271.1_Missense_Mutation_p.K104E	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	104					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGTTGGGGAGAAAGGTGAGAG	0.493													16	46					0	0	0	0	G	169938401	A	G	169938401	3	3	169	1	0	0	0	0	1	0	0	0	4535	247	9	5	312	5	DHRS9	2	169938401	Missense_Mutation	SNP	A	TCGA-CQ-A4CI-01A-11D-A25Y-08	41587991	169938401	73260972	16	29977											
TTN	7273	broad.mit.edu	37	chr2	179612366	179612366	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcctggtctctggtgtcttTagtttcaggaacctcacgct	5	15	10	11	1	4	0	2	0	2	0	5	1	4	1	2	3	2	2	2	3	2	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr2:179612366T>C	ENST00000360870.5	-	46	14983	c.14761A>G	c.(14761-14763)Aaa>Gaa	p.K4921E	TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1048	Ig-like 29.						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)			CTGGTGTCTTTAGTTTCAGGA	0.433													52	124					0	0	0	0	C	179612366	T	C	179612366	3	2	169	1	0	0	0	0	1	0	0	0	16831	1763	61	5	95536	5	TTN	2	179612366	Missense_Mutation	SNP	T	TCGA-CQ-A4CI-01A-11D-A25Y-08	9673965	179612366	63587007	17	29978											
CYP20A1	57404	broad.mit.edu	37	chr2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-																															aaccacctctgaagaagttcAaaaaaaattatatgaagaga																										TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr2:204150380delA	ENST00000356079.4	+	9	1019	c.896delA	c.(895-897)cafs	p.Q299fs	CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	299						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348													7	220	---	---	---	---					-	204150380	A	-	204150380	7	5	169	1	0	1	0	1	0	0	0	0	4184	130	5	0	930	0	CYP20A1	2	204150380	Frame_Shift_Del	DEL	A	TCGA-CQ-A4CI-01A-11D-A25Y-08	24538014	204150380	39048993	18	29979											
HJURP	55355	broad.mit.edu	37	chr2	234749348	234749348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagggaattgccctggCgtccggagccctggggttct	5	8	14	14	2	1	0	0	0	1	0	2	2	2	2	4	5	2	1	4	5	1	2			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr2:234749348C>T	ENST00000411486.2	-	8	2143	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	HJURP_ENST00000441687.1_Missense_Mutation_p.R608H|HJURP_ENST00000432087.1_Missense_Mutation_p.R639H	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	693					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ATTGCCCTGGCGTCCGGAGCC	0.592													62	24					0	0	0	0	T	234749348	C	T	234749348	3	4	169	1	0	0	0	0	1	0	0	0	7239	768	27	1	176	1	HJURP	2	234749348	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	30598968	234749348	8450025	19	29980											
EDEM1	9695	broad.mit.edu	37	chr3	5249856	5249856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaacgatatggtgccctcCctgagagatataactggcag	12	8	12	9	1	0	2	0	1	0	1	1	5	1	3	2	3	3	1	2	3	4	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr3:5249856C>T	ENST00000256497.4	+	8	1550	c.1417C>T	c.(1417-1419)Cct>Tct	p.P473S	EDEM1_ENST00000445686.1_Missense_Mutation_p.P278S	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	473					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TGGTGCCCTCCCTGAGAGATA	0.498													68	30					0	0	0	0	T	5249856	C	T	5249856	3	4	169	1	0	0	0	0	1	0	0	0	4947	623	22	4	1447	4	EDEM1	3	5249856	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08		5249856	192772574	20	29981											
ATP2B2	491	broad.mit.edu	37	chr3	10387081	10387081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacccacctgcgtgatgcagGcgcctgtgaaggccacaatc	9	6	12	14	2	0	2	0	2	0	0	1	3	0	2	4	2	2	1	4	2	2	0			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr3:10387081G>T	ENST00000397077.1	-	17	3130	c.2555C>A	c.(2554-2556)gCc>gAc	p.A852D	ATP2B2_ENST00000383800.4_Missense_Mutation_p.A852D|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A897D|ATP2B2_ENST00000352432.4_Missense_Mutation_p.A897D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A883D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	897					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTGATGCAGGCGCCTGTGAA	0.622													20	12					1.33834e-09	1.47584e-09	1	0	T	10387081	G	T	10387081	3	4	169	1	0	0	0	0	1	0	0	0	1144	1203	42	4	1065	4	ATP2B2	3	10387081	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	5137225	10387081	187635349	21	29982											
SLC6A11	6538	broad.mit.edu	37	chr3	10971010	10971010	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctcctattttctgggcctCgtgatgttaacagaggtgag	8	14	11	8	1	2	3	0	2	2	1	4	3	2	3	2	2	1	1	2	2	2	4			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr3:10971010C>T	ENST00000254488.2	+	10	1422	c.1356C>T	c.(1354-1356)ctC>ctT	p.L452L		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	452					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TTCTGGGCCTCGTGATGTTAA	0.572													86	62					0	0	0	0	T	10971010	C	T	10971010	2	4	169	1	0	0	0	0	0	0	0	1	14762	871	31	1		1	SLC6A11	3	10971010	Silent	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	583929	10971010	187051420	22	29983											
C3orf17	25871	broad.mit.edu	37	chr3	112724609	112724609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagatcagttctatgcacaGtacagtgtgagagtctccac	12	10	10	9	0	3	2	1	1	2	2	4	4	3	2	1	0	2	3	1	0	2	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr3:112724609G>T	ENST00000314400.5	-	9	1669	c.1478C>A	c.(1477-1479)aCt>aAt	p.T493N	C3orf17_ENST00000383675.2_Missense_Mutation_p.T423N|C3orf17_ENST00000393857.2_Missense_Mutation_p.T357N	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	493						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TCTATGCACAGTACAGTGTGA	0.418													37	78					1.26612e-14	1.44571e-14	1	0	T	112724609	G	T	112724609	3	4	169	1	0	0	0	0	1	0	0	0	2230	1029	36	4	229	4	C3orf17	3	112724609	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	101753599	112724609	85297821	23	29984											
CPNE4	131034	broad.mit.edu	37	chr3	131624166	131624166	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaggggtctggtttggaaAgggcatctctgtcagaaatg	10	10	14	7	0	3	1	1	0	2	1	4	2	3	2	0	5	0	2	0	5	2	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr3:131624166A>T	ENST00000512055.1	-	6	2248	c.122T>A	c.(121-123)cTt>cAt	p.L41H	CPNE4_ENST00000511604.1_Missense_Mutation_p.L41H|CPNE4_ENST00000502818.1_Missense_Mutation_p.L59H|CPNE4_ENST00000512332.1_Missense_Mutation_p.L59H|CPNE4_ENST00000429747.1_Missense_Mutation_p.L41H			Q96A23	CPNE4_HUMAN	copine IV	41	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGGTTTGGAAAGGGCATCTCT	0.517													59	75					0	0	0	0	T	131624166	A	T	131624166	3	4	169	1	0	0	0	0	1	0	0	0	3844	72	3	5	1611	5	CPNE4	3	131624166	Missense_Mutation	SNP	A	TCGA-CQ-A4CI-01A-11D-A25Y-08	18899557	131624166	66398264	24	29985											
EPHA5	2044	broad.mit.edu	37	chr4	66197808	66197808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctactgatctgtaggccccaGatcctagtgggctatgttct	7	13	10	11	0	2	2	0	1	2	1	3	2	3	2	3	2	1	3	3	2	4	5			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr4:66197808G>A	ENST00000273854.3	-	17	3491	c.2891C>T	c.(2890-2892)tCt>tTt	p.S964F	EPHA5_ENST00000354839.4_Missense_Mutation_p.S942F|EPHA5_ENST00000511294.1_Missense_Mutation_p.S965F|EPHA5_ENST00000432638.2_Missense_Mutation_p.S801F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	964					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.S964Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTAGGCCCCAGATCCTAGTGG	0.358										TSP Lung(17;0.13)			31	17					0	0	0	0	A	66197808	G	A	66197808	3	1	169	1	0	0	0	0	1	0	0	0	5208	942	33	2	230	2	EPHA5	4	66197808	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08		66197808	124956468	25	29986											
RUFY3	22902	broad.mit.edu	37	chr4	71648890	71648890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagttcctacatactggaatCcaatcggaaggttaatctta	14	12	7	8	1	1	0	0	0	1	0	4	2	3	2	2	3	2	2	2	3	8	5			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr4:71648890C>T	ENST00000226328.4	+	9	1540	c.977C>T	c.(976-978)tCc>tTc	p.S326F	RUFY3_ENST00000381006.3_Missense_Mutation_p.S326F|RUFY3_ENST00000536664.1_Missense_Mutation_p.S310F|RUFY3_ENST00000417478.2_Missense_Mutation_p.S386F|RUFY3_ENST00000502653.1_Missense_Mutation_p.S273F	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	326					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			ATACTGGAATCCAATCGGAAG	0.353													12	4					0	0	0	0	T	71648890	C	T	71648890	3	4	169	1	0	0	0	0	1	0	0	0	13825	855	30	2	1373	2	RUFY3	4	71648890	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	5451082	71648890	119505386	26	29987											
ALB	213	broad.mit.edu	37	chr4	74283319	74283319	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtagaggtctcaagaaaccTaggaaaagtgggcagcaaat	16	7	12	6	0	1	2	1	0	1	2	2	3	1	3	1	3	2	3	1	3	7	2			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr4:74283319T>A	ENST00000295897.4	+	11	1450	c.1361T>A	c.(1360-1362)cTa>cAa	p.L454Q	ALB_ENST00000505649.1_Intron|ALB_ENST00000415165.2_Missense_Mutation_p.L262Q|ALB_ENST00000503124.1_Missense_Mutation_p.L304Q|ALB_ENST00000509063.1_Missense_Mutation_p.L454Q|ALB_ENST00000401494.3_Missense_Mutation_p.L339Q	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	454	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TCAAGAAACCTAGGAAAAGTG	0.363													25	26					0	0	0	0	A	74283319	T	A	74283319	3	1	169	1	0	0	0	0	1	0	0	0	486	1522	53	5	1403	5	ALB	4	74283319	Missense_Mutation	SNP	T	TCGA-CQ-A4CI-01A-11D-A25Y-08	2634429	74283319	116870957	27	29988											
IBSP	3381	broad.mit.edu	37	chr4	88723830	88723830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaagtacaggccacgatatTatctttacaagcatgcctac	13	12	6	10	1	1	0	0	0	1	0	1	1	1	0	2	1	5	2	2	1	7	7			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr4:88723830T>C	ENST00000226284.5	+	4	197	c.130T>C	c.(130-132)Tat>Cat	p.Y44H		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	44					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GCCACGATATTATCTTTACAA	0.274													35	21					0	0	0	0	C	88723830	T	C	88723830	3	2	169	1	0	0	0	0	1	0	0	0	7528	1754	61	5	140	5	IBSP	4	88723830	Missense_Mutation	SNP	T	TCGA-CQ-A4CI-01A-11D-A25Y-08	14440511	88723830	102430446	28	29989											
NDST4	64579	broad.mit.edu	37	chr4	115858651	115858651	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcccatgttgattggtatTccatgttcctaaaacaaagc	12	13	7	9	0	0	1	0	1	0	0	2	1	2	1	3	1	3	3	3	1	5	7			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr4:115858651T>A	ENST00000264363.2	-	5	1908	c.1230A>T	c.(1228-1230)ggA>ggT	p.G410G		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	410	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGATTGGTATTCCATGTTCCT	0.433													21	11					0	0	0	0	A	115858651	T	A	115858651	2	1	169	1	0	0	0	0	0	0	0	1	10328	1770	62	5		5	NDST4	4	115858651	Silent	SNP	T	TCGA-CQ-A4CI-01A-11D-A25Y-08	27134821	115858651	75295625	29	29990											
LARP1B	55132	broad.mit.edu	37	chr4	129012524	129012524	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactttgattattcatatggTtatcaagaacatggtgaaag	15	14	8	4	0	2	3	2	2	0	1	2	3	2	3	0	2	2	1	0	2	7	5			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr4:129012524T>C	ENST00000326639.6	+	7	736	c.525T>C	c.(523-525)ggT>ggC	p.G175G	LARP1B_ENST00000394288.3_Silent_p.G175G|LARP1B_ENST00000264584.5_Silent_p.G128G|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000512292.1_Silent_p.G175G|LARP1B_ENST00000427266.1_Silent_p.G175G|LARP1B_ENST00000432347.2_Silent_p.G175G|LARP1B_ENST00000441387.1_Silent_p.G175G	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	175							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						ATTCATATGGTTATCAAGAAC	0.313													30	15					0	0	0	0	C	129012524	T	C	129012524	2	2	169	1	0	0	0	0	0	0	0	1	8682	1712	60	5		5	LARP1B	4	129012524	Silent	SNP	T	TCGA-CQ-A4CI-01A-11D-A25Y-08	13153873	129012524	62141752	30	29991											
FAT1	2195	broad.mit.edu	37	chr4	187549662	187549662	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaccgtgagggtgtgctGgtgaacagcttcatgatcca	9	10	13	9	1	1	4	1	4	0	0	2	4	2	4	2	2	3	2	2	2	1	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr4:187549662G>A	ENST00000441802.2	-	8	4788	c.4579C>T	c.(4579-4581)Cag>Tag	p.Q1527*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1527	Cadherin 13.			HQHT -> SPAH (in Ref. 1; CAA60685).	actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGGGTGTGCTGGTGAACAGCT	0.488										HNSCC(5;0.00058)			20	12					0	0	0	0	A	187549662	G	A	187549662	4	1	169	1	0	0	0	0	0	1	0	0	5734	1357	47	4	9267	4	FAT1	4	187549662	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	58537138	187549662	3604614	31	29992											
PRDM9	56979	broad.mit.edu	37	chr5	23527778	23527778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaggggagaagccctacGtctgcagggagtgtgggcgg	9	5	18	9	2	1	1	0	0	1	1	1	3	1	2	1	5	3	1	1	5	2	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr5:23527778G>A	ENST00000296682.3	+	11	2763	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	861					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAAGCCCTACGTCTGCAGGGA	0.592										HNSCC(3;0.000094)			54	103					0	0	0	0	A	23527778	G	A	23527778	3	1	169	1	0	0	0	0	1	0	0	0	12543	1145	40	1	2619	1	PRDM9	5	23527778	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08		23527778	157387482	32	29993											
C9	735	broad.mit.edu	37	chr5	39311416	39311416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttgttgtgagcacaacatCgcgatttctcattacaaatc	12	13	7	9	2	1	1	1	1	1	0	4	2	1	1	0	0	3	3	0	0	3	4	rs147710831		TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr5:39311416C>T	ENST00000263408.4	-	7	1029	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	312	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGCACAACATCGCGATTTCTC	0.368													53	71					0	0	0	0	T	39311416	C	T	39311416	3	4	169	1	0	0	0	0	1	0	0	0	2468	884	31	1	765	1	C9	5	39311416	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	15783638	39311416	141603844	33	29994											
SGTB	54557	broad.mit.edu	37	chr5	64976529	64976529	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttctgctattttcagatttGacttataggaatcattttca	10	19	6	6	0	4	2	3	1	1	1	4	3	4	3	0	1	1	2	0	1	4	9			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr5:64976529G>C	ENST00000381007.4	-	7	807	c.572C>G	c.(571-573)tCa>tGa	p.S191*		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	191							binding			large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TTTCAGATTTGACTTATAGGA	0.368													26	92					0	0	0	0	C	64976529	G	C	64976529	4	2	169	1	0	0	0	0	0	1	0	0	14313	1294	45	2	362	2	SGTB	5	64976529	Nonsense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	25665113	64976529	115938731	34	29995											
PCDHA4	56144	broad.mit.edu	37	chr5	140188074	140188074	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagacgggggctcgccttcGctgtgggccacggccagtgt	4	7	17	13	5	0	1	0	0	0	1	2	2	0	1	3	4	0	2	3	4	0	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr5:140188074G>A	ENST00000530339.1	+	1	1302	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.S434S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.S434S	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGCCTTCGCTGTGGGCCA	0.612													76	53					0	0	0	0	A	140188074	G	A	140188074	2	1	169	1	0	0	0	0	0	0	0	1	11597	1074	38	1		1	PCDHA4	5	140188074	Silent	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	75211545	140188074	40727186	35	29996											
HIVEP1	3096	broad.mit.edu	37	chr6	12164245	12164245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatgcacagggagctccaGaaatgccagcttcccaaagc	12	7	10	12	0	0	2	0	1	0	1	2	3	2	3	3	1	5	3	3	1	2	2			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr6:12164245G>A	ENST00000379388.2	+	9	8040	c.7708G>A	c.(7708-7710)Gaa>Aaa	p.E2570K	HIVEP1_ENST00000541134.1_Missense_Mutation_p.E435K	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2570					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGGAGCTCCAGAAATGCCAGC	0.542													23	16					0	0	0	0	A	12164245	G	A	12164245	3	1	169	1	0	0	0	0	1	0	0	0	7236	943	33	2	7738	2	HIVEP1	6	12164245	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08		12164245	158950822	36	29997											
MRPS18B	28973	broad.mit.edu	37	chr6	30585647	30585647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcgtacgtcaagatggCggcgtctgtattaaacaccg	9	9	13	10	5	2	1	1	0	1	1	2	1	2	1	1	3	2	2	1	3	5	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr6:30585647C>T	ENST00000259873.4	+	1	162	c.5C>T	c.(4-6)gCg>gTg	p.A2V	MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_Missense_Mutation_p.A2V	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	2					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GTCAAGATGGCGGCGTCTGTA	0.537													30	39					0	0	0	0	T	30585647	C	T	30585647	3	4	169	1	0	0	0	0	1	0	0	0	9899	768	27	1	7	1	MRPS18B	6	30585647	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	18421402	30585647	140529420	37	29998											
SYNCRIP	10492	broad.mit.edu	37	chr6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T																															caagaaagcaaaagcctctgINSttttttttcttgtcatccgg																										TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr6:86332353_86332354insT	ENST00000355238.6	-	8	1060_1061	c.854_855insA	c.(853-855)aagfs	p.K285fs	SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAAGCCTCTGTTTTTTTTCTT	0.411													7	271	---	---	---	---					T	86332354	-	T	86332353	7	5	169	1	0	1	1	0	0	0	0	0	15535	1368	48	0	1078	0	SYNCRIP	6	86332353	Frame_Shift_Ins	INS	-	TCGA-CQ-A4CI-01A-11D-A25Y-08	55746706	86332353	84782714	38	29999											
REV3L	5980	broad.mit.edu	37	chr6	111701419	111701419	+	Missense_Mutation	SNP	T	T	C																															gagcctcatcaggactactgTccactataaaacaagtacaa																										TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr6:111701419T>C	ENST00000435970.1	-	13	1802	c.986A>G	c.(985-987)gAc>gGc	p.D329G	REV3L_ENST00000368802.3_Missense_Mutation_p.D407G|REV3L_ENST00000358835.3_Missense_Mutation_p.D407G|REV3L_ENST00000368805.1_Missense_Mutation_p.D407G			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	407					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGGACTACTGTCCACTATAAA	0.433								DNA polymerases (catalytic subunits)					47	70					0	0	0	0	C	111701419	T	C	111701419	3	2	169	1	0	0	0	0	1	0	0	0	13322	1667	58	5	8260	5	REV3L	6	111701419	Missense_Mutation	SNP	T	TCGA-CQ-A4CI-01A-11D-A25Y-08	25369066	111701419	59413648	39	30000	230	2									
REV3L	5980	broad.mit.edu	37	chr6	111701420	111701420	+	Missense_Mutation	SNP	C	C	A																															agcctcatcaggactactgtCcactataaaacaagtacaat																										TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr6:111701420C>A	ENST00000435970.1	-	13	1801	c.985G>T	c.(985-987)Gac>Tac	p.D329Y	REV3L_ENST00000368802.3_Missense_Mutation_p.D407Y|REV3L_ENST00000358835.3_Missense_Mutation_p.D407Y|REV3L_ENST00000368805.1_Missense_Mutation_p.D407Y			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	407					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGACTACTGTCCACTATAAAA	0.433								DNA polymerases (catalytic subunits)					47	67					1.7489e-18	2.02571e-18	1	0	A	111701420	C	A	111701420	3	1	169	1	0	0	0	0	1	0	0	0	13322	855	30	2	8261	2	REV3L	6	111701420	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	1	111701420	59413647	40	30001	230	2									
CLVS2	134829	broad.mit.edu	37	chr6	123319157	123319157	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgcagtactttgagtacCggcagcagaacctggacatg	10	8	13	10	2	0	2	0	1	0	1	0	3	0	3	2	3	4	5	2	3	3	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr6:123319157C>A	ENST00000275162.4	+	2	1570	c.235C>A	c.(235-237)Cgg>Agg	p.R79R	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	79					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CTTTGAGTACCGGCAGCAGAA	0.557													58	92					4.96213e-28	5.9178e-28	1	0	A	123319157	C	A	123319157	2	1	169	1	0	0	0	0	0	0	0	1	3602	643	23	3		3	CLVS2	6	123319157	Silent	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	11617737	123319157	47795910	41	30002											
SASH1	23328	broad.mit.edu	37	chr6	148865655	148865655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctccccagtcccgatgcgCcatgcctgccagtgaaaagg	8	6	10	17	2	0	1	0	1	0	0	2	2	2	1	7	1	3	0	7	1	2	0			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr6:148865655C>T	ENST00000367467.3	+	18	3524	c.3049C>T	c.(3049-3051)Cca>Tca	p.P1017S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1017	Pro-rich.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCCCGATGCGCCATGCCTGCC	0.677													28	46					0	0	0	0	T	148865655	C	T	148865655	3	4	169	1	0	0	0	0	1	0	0	0	13934	739	26	4	3119	4	SASH1	6	148865655	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	25546498	148865655	22249412	42	30003											
SYNE1	23345	broad.mit.edu	37	chr6	152651011	152651011	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcattcatgattctcaagcTggactggacctcttcctgat	8	13	8	12	1	3	2	2	2	2	0	5	4	4	4	2	2	1	2	2	2	1	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr6:152651011T>G	ENST00000367255.5	-	78	15410	c.14809A>C	c.(14809-14811)Agc>Cgc	p.S4937R	SYNE1_ENST00000341594.5_Missense_Mutation_p.S4684R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4937R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4866R|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4866R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4937					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTCTCAAGCTGGACTGGACC	0.493										HNSCC(10;0.0054)			82	154					0	0	0	0	G	152651011	T	G	152651011	3	3	169	1	0	0	0	0	1	0	0	0	15536	1580	55	5	11933	5	SYNE1	6	152651011	Missense_Mutation	SNP	T	TCGA-CQ-A4CI-01A-11D-A25Y-08	3785356	152651011	18464056	43	30004											
SYNJ2	8871	broad.mit.edu	37	chr6	158449877	158449877	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctacaaaatcactgccActgacttttaccctcttcag	13	12	3	13	0	4	1	2	1	2	0	4	1	4	1	2	0	3	0	2	0	5	4			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr6:158449877A>G	ENST00000355585.4	+	3	379	c.304A>G	c.(304-306)Act>Gct	p.T102A	SYNJ2_ENST00000449859.2_Missense_Mutation_p.T51A|SYNJ2_ENST00000367121.3_Missense_Mutation_p.T102A|SYNJ2_ENST00000367122.2_Missense_Mutation_p.T102A	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	102							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AATCACTGCCACTGACTTTTA	0.498													29	56					0	0	0	0	G	158449877	A	G	158449877	3	3	169	1	0	0	0	0	1	0	0	0	15544	159	6	5	314	5	SYNJ2	6	158449877	Missense_Mutation	SNP	A	TCGA-CQ-A4CI-01A-11D-A25Y-08	5798866	158449877	12665190	44	30005											
RPS6KA2	6196	broad.mit.edu	37	chr6	166845943	166845943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccgcaggaggatctcaatCtcttccgaggggtctctctt	7	12	10	12	2	4	0	1	0	4	0	8	3	5	2	2	4	1	1	2	4	2	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr6:166845943C>G	ENST00000510118.1	-	17	1783	c.1443G>C	c.(1441-1443)gaG>gaC	p.E481D	RPS6KA2_ENST00000265678.4_Missense_Mutation_p.E456D|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.E464D|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.E367D|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.E367D			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	456	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGATCTCAATCTCTTCCGAGG	0.522													10	19					0	0	0	0	G	166845943	C	G	166845943	3	3	169	1	0	0	0	0	1	0	0	0	13736	912	32	2	861	2	RPS6KA2	6	166845943	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	8396066	166845943	4269124	45	30006											
SUN1	23353	broad.mit.edu	37	chr7	897553	897553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtccagctggcgacacGtgaagaccggctgtgagaca	10	6	14	11	3	0	3	0	2	0	2	1	5	1	3	2	2	2	3	2	2	1	0			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr7:897553G>A	ENST00000456758.2	+	19	2050	c.2050G>A	c.(2050-2052)Gtg>Atg	p.V684M	SUN1_ENST00000389574.3_Missense_Mutation_p.V412M|SUN1_ENST00000413514.2_Missense_Mutation_p.V293M|SUN1_ENST00000425407.2_Missense_Mutation_p.V412M|SUN1_ENST00000405266.1_Missense_Mutation_p.V532M|SUN1_ENST00000401592.1_Missense_Mutation_p.V495M|SUN1_ENST00000452783.2_Missense_Mutation_p.V392M			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	522	SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGGCGACACGTGAAGACCGG	0.483													86	197					0	0	0	0	A	897553	G	A	897553	3	1	169	1	0	0	0	0	1	0	0	0	15481	1145	40	1	1716	1	SUN1	7	897553	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08		897553	158241110	46	30007											
AIMP2	7965	broad.mit.edu	37	chr7	6049123	6049123	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgccgggcgctggccaCgtgcaggtaggagcgcgggg	5	3	20	13	6	0	0	0	0	0	0	0	1	0	1	3	6	3	3	3	6	1	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr7:6049123C>G	ENST00000223029.3	+	1	248	c.129C>G	c.(127-129)caC>caG	p.H43Q	AIMP2_ENST00000400479.2_Intron|AIMP2_ENST00000395236.2_Missense_Mutation_p.H43Q	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	43					apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GCGCTGGCCACGTGCAGGTAG	0.776													16	31					0	0	0	0	G	6049123	C	G	6049123	3	3	169	1	0	0	0	0	1	0	0	0	434	535	19	3	131	3	AIMP2	7	6049123	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	5151570	6049123	153089540	47	30008											
OGDH	4967	broad.mit.edu	37	chr7	44737219	44737219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaggctttgagctgggcttCgccatggccagtcctaatgc	6	11	13	11	1	0	1	0	1	0	0	2	1	1	1	3	3	2	4	3	3	2	4			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr7:44737219C>T	ENST00000222673.5	+	17	2238	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	OGDH_ENST00000444676.1_Silent_p.F747F|OGDH_ENST00000447398.1_Silent_p.F743F|OGDH_ENST00000543843.1_Silent_p.F683F|OGDH_ENST00000449767.1_Silent_p.F728F|OGDH_ENST00000439616.2_Silent_p.F582F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	732				LGFA -> AGLR (in Ref. 1; BAA01393 and 2; BAA06836).	glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGCTGGGCTTCGCCATGGCCA	0.597													52	84					0	0	0	0	T	44737219	C	T	44737219	2	4	169	1	0	0	0	0	0	0	0	1	10910	883	31	1		1	OGDH	7	44737219	Silent	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	38688096	44737219	114401444	48	30009											
MAGI2	9863	broad.mit.edu	37	chr7	77764355	77764355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccctcctgaggaatgatgCgaagggtgacactaagacct	12	7	11	11	1	0	4	0	3	0	1	1	6	1	5	3	2	1	0	3	2	3	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr7:77764355C>T	ENST00000354212.4	-	17	3267	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H	MAGI2_ENST00000522391.1_Missense_Mutation_p.R1005H|MAGI2_ENST00000419488.1_Missense_Mutation_p.R991H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1005	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGAATGATGCGAAGGGTGAC	0.577													26	20					0	0	0	0	T	77764355	C	T	77764355	3	4	169	1	0	0	0	0	1	0	0	0	9260	768	27	1	1377	1	MAGI2	7	77764355	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	33027136	77764355	81374308	49	30010											
DLGAP2	9228	broad.mit.edu	37	chr8	1496892	1496892	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggaagtcggacccagccGccgctgtgttccgggcacac	6	6	13	16	5	0	0	0	0	0	0	3	2	2	2	5	3	1	3	5	3	1	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr8:1496892G>A	ENST00000421627.2	+	2	167	c.33G>A	c.(31-33)ccG>ccA	p.P11P		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	90					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGACCCAGCCGCCGCTGTGTT	0.706													7	3					0	0	0	0	A	1496892	G	A	1496892	2	1	169	1	0	0	0	0	0	0	0	1	4597	1074	38	1		1	DLGAP2	8	1496892	Silent	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08		1496892	144867130	50	30011											
MSR1	4481	broad.mit.edu	37	chr8	16026258	16026258	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctcatgtgttccataaaGacttcttgaaatctcatttc	10	17	5	9	0	3	2	2	1	2	1	6	2	4	2	1	0	1	2	1	0	3	6			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr8:16026258G>C	ENST00000350896.3	-	4	536	c.339C>G	c.(337-339)gtC>gtG	p.V113V	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000262101.5_Silent_p.V113V|MSR1_ENST00000381998.4_Silent_p.V113V|MSR1_ENST00000445506.2_Silent_p.V131V|MSR1_ENST00000355282.2_Silent_p.V113V	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	113					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.V113V(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTTCCATAAAGACTTCTTGAA	0.388													72	56					0	0	0	0	C	16026258	G	C	16026258	2	2	169	1	0	0	0	0	0	0	0	1	9956	929	33	2		2	MSR1	8	16026258	Silent	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	14529366	16026258	130337764	51	30012											
SLC26A7	115111	broad.mit.edu	37	chr8	92406045	92406045	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttacatggactgtaaaggCaggagtgtggatgtattgtt	10	14	14	3	0	0	0	0	0	0	0	0	3	0	3	0	4	1	5	0	4	4	6			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr8:92406045C>G	ENST00000276609.3	+	17	2036	c.1797C>G	c.(1795-1797)ggC>ggG	p.G599G	SLC26A7_ENST00000523719.1_Silent_p.G599G|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Silent_p.G599G	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	599	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACTGTAAAGGCAGGAGTGTGG	0.388													63	125					0	0	0	0	G	92406045	C	G	92406045	2	3	169	1	0	0	0	0	0	0	0	1	14610	697	25	4		4	SLC26A7	8	92406045	Silent	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	76379787	92406045	53957977	52	30013											
RUNX1T1	862	broad.mit.edu	37	chr8	92982962	92982962	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttggcctcggcgaccgtgCgctccatcttggccctctct	2	12	11	16	4	2	0	0	0	2	0	5	1	3	0	4	3	1	2	4	3	0	2	rs143723171		TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr8:92982962C>A	ENST00000523629.1	-	11	1917	c.1463G>T	c.(1462-1464)cGc>cTc	p.R488L	RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R451L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R451L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R451L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R488L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R461L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R499L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R461L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	488					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)			GGCGACCGTGCGCTCCATCTT	0.617													24	28					1.96895e-08	2.11334e-08	1	0	A	92982962	C	A	92982962	3	1	169	1	0	0	0	0	1	0	0	0	13832	768	27	3	359	3	RUNX1T1	8	92982962	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	576917	92982962	53381060	53	30014											
RNF19A	25897	broad.mit.edu	37	chr8	101300145	101300145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaattccatccaccccGccatttagctcccttgattt	7	14	4	16	1	0	1	0	1	0	0	3	1	3	1	6	0	2	2	6	0	2	6			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr8:101300145G>A	ENST00000519449.1	-	3	574	c.258C>T	c.(256-258)ggC>ggT	p.G86G	RNF19A_ENST00000341084.2_Silent_p.G86G	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	86					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CATCCACCCCGCCATTTAGCT	0.373													70	137					0	0	0	0	A	101300145	G	A	101300145	2	1	169	1	0	0	0	0	0	0	0	1	13555	1074	38	1		1	RNF19A	8	101300145	Silent	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	8317183	101300145	45063877	54	30015											
WDYHV1	55093	broad.mit.edu	37	chr8	124453639	124453639	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaatttacacatcggtttgGcagtaaaaactgctgaactt	13	12	8	8	2	0	1	0	1	0	0	1	2	0	1	0	2	4	4	0	2	6	5			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr8:124453639G>C	ENST00000523984.1	+	6	650	c.422G>C	c.(421-423)gGc>gCc	p.G141A	WDYHV1_ENST00000518125.1_Missense_Mutation_p.G53A|WDYHV1_ENST00000523356.1_3'UTR|WDYHV1_ENST00000287387.2_Missense_Mutation_p.G201A|WDYHV1_ENST00000517609.1_3'UTR			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	201					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						CATCGGTTTGGCAGTAAAAAC	0.423													20	9					0	0	0	0	C	124453639	G	C	124453639	3	2	169	1	0	0	0	0	1	0	0	0	17439	1203	42	4	624	4	WDYHV1	8	124453639	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	23153494	124453639	21910383	55	30016											
KIAA1432	57589	broad.mit.edu	37	chr9	5763392	5763392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgaagatgctttagtcCttggtgctgtcaatgacact	8	16	10	7	0	1	3	1	2	0	1	2	3	2	3	1	1	2	3	1	1	3	4			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr9:5763392C>T	ENST00000414202.2	+	19	2556	c.2365C>T	c.(2365-2367)Ctt>Ttt	p.L789F	KIAA1432_ENST00000449720.2_Missense_Mutation_p.L673F|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L789F|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L710F|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L710F	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	789						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGCTTTAGTCCTTGGTGCTGT	0.473													168	91					0	0	0	0	T	5763392	C	T	5763392	3	4	169	1	0	0	0	0	1	0	0	0	8284	681	24	4	2198	4	KIAA1432	9	5763392	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08		5763392	135450039	56	30017											
IFNA17	3451	broad.mit.edu	37	chr9	21227775	21227775	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagtcctcattcatcaggGgagtctcttccatcccaacc	8	11	8	14	0	4	0	3	0	1	0	8	2	7	2	4	3	1	0	4	3	1	2			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr9:21227775G>C	ENST00000413767.2	-	1	446	c.398C>G	c.(397-399)cCc>cGc	p.P133R		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	133					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATTCATCAGGGGAGTCTCTTC	0.453													254	71					0	0	0	0	C	21227775	G	C	21227775	3	2	169	1	0	0	0	0	1	0	0	0	7589	1232	43	4	175	4	IFNA17	9	21227775	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	15464383	21227775	119985656	57	30018											
CEP78	84131	broad.mit.edu	37	chr9	80866898	80866898	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatattatgcgcccgcacctCttccacctggtgtgtctggt	6	13	9	13	2	2	0	0	0	2	0	3	0	3	0	4	2	1	1	4	2	3	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr9:80866898C>G	ENST00000424347.2	+	9	1433	c.1144C>G	c.(1144-1146)Ctt>Gtt	p.L382V	CEP78_ENST00000277082.5_Missense_Mutation_p.L382V|CEP78_ENST00000376598.2_Missense_Mutation_p.L382V|CEP78_ENST00000415759.2_Missense_Mutation_p.L383V|CEP78_ENST00000376597.4_Missense_Mutation_p.L383V			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	382					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GCCCGCACCTCTTCCACCTGG	0.418													7	11					0	0	0	0	G	80866898	C	G	80866898	3	3	169	1	0	0	0	0	1	0	0	0	3291	913	32	2	1181	2	CEP78	9	80866898	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	59639123	80866898	60346533	58	30019											
COL5A1	1289	broad.mit.edu	37	chr9	137694768	137694768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgggcccaatgggtgagcGtggccaccctgggccccctg	6	5	15	15	2	0	1	0	1	0	0	0	1	0	1	5	4	2	0	5	4	2	0			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr9:137694768G>A	ENST00000371817.3	+	39	3455	c.3041G>A	c.(3040-3042)cGt>cAt	p.R1014H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1014	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATGGGTGAGCGTGGCCACCCT	0.602													10	10					0	0	0	0	A	137694768	G	A	137694768	3	1	169	1	0	0	0	0	1	0	0	0	3726	1145	40	1	3195	1	COL5A1	9	137694768	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	56827870	137694768	3518663	59	30020											
CACNA1B	774	broad.mit.edu	37	chr9	140811698	140811698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctccttcttgcagatgcgGagcccgtgggtgacttcccc	4	12	11	14	2	2	2	0	1	2	1	4	3	3	3	4	2	3	1	4	2	0	4			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr9:140811698G>A	ENST00000371372.1	+	6	926	c.781G>A	c.(781-783)Gag>Aag	p.E261K	CACNA1B_ENST00000371363.1_Missense_Mutation_p.E261K|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E261K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E261K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E261K|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	261					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGCAGATGCGGAGCCCGTGGG	0.612													30	48					0	0	0	0	A	140811698	G	A	140811698	3	1	169	1	0	0	0	0	1	0	0	0	2564	1175	41	2	803	2	CACNA1B	9	140811698	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	3116930	140811698	401733	60	30021											
KIAA1217	56243	broad.mit.edu	37	chr10	24762969	24762970	+	Frame_Shift_Ins	INS	-	-	C																															cctacagcacggcgacaataINScccaaagacagagagaccag																										TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr10:24762969_24762970insC	ENST00000376451.2	+	2	1073_1074	c.813_814insC	c.(811-816)atccaafs	p.Q272fs	KIAA1217_ENST00000376452.3_Frame_Shift_Ins_p.Q554fs|KIAA1217_ENST00000396446.1_Frame_Shift_Ins_p.Q272fs|KIAA1217_ENST00000458595.1_Frame_Shift_Ins_p.Q554fs|KIAA1217_ENST00000376454.3_Frame_Shift_Ins_p.Q554fs|KIAA1217_ENST00000307544.6_Frame_Shift_Ins_p.Q272fs|KIAA1217_ENST00000430453.2_Frame_Shift_Ins_p.Q475fs|KIAA1217_ENST00000376462.1_Frame_Shift_Ins_p.Q474fs|KIAA1217_ENST00000396445.1_Frame_Shift_Ins_p.Q272fs			Q5T5P2	SKT_HUMAN	KIAA1217	554					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGGCGACAATACCCAAAGACAG	0.55													30	12	---	---	---	---					C	24762970	-	C	24762969	7	5	169	1	0	1	1	0	0	0	0	0	8267	381	14	0	1681	0	KIAA1217	10	24762969	Frame_Shift_Ins	INS	-	TCGA-CQ-A4CI-01A-11D-A25Y-08		24762969	110771778	61	30022											
ANKRD30A	91074	broad.mit.edu	37	chr10	37422978	37422978	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttacttgtggatttcAtcagtaagtgtttacgttta	8	19	9	5	1	2	0	2	0	0	0	2	1	2	1	0	1	3	5	0	1	4	8			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr10:37422978A>T	ENST00000374660.1	+	5	683	c.584A>T	c.(583-585)cAt>cTt	p.H195L	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H195L|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H195L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	251						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGTGGATTTCATCAGTAAGTG	0.383													135	2793					0	0	0	0	T	37422978	A	T	37422978	3	4	169	1	0	0	0	0	1	0	0	0	658	217	8	5	602	5	ANKRD30A	10	37422978	Missense_Mutation	SNP	A	TCGA-CQ-A4CI-01A-11D-A25Y-08	12660009	37422978	98111769	62	30023											
UNC5B	219699	broad.mit.edu	37	chr10	73039707	73039707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtggagctccgctgccGcgccttccccgccacacaga	5	6	11	19	4	0	1	0	0	0	1	2	2	2	2	7	1	2	2	7	1	0	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr10:73039707G>A	ENST00000335350.6	+	2	625	c.209G>A	c.(208-210)cGc>cAc	p.R70H	UNC5B_ENST00000373192.4_Missense_Mutation_p.R70H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	70	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTCCGCTGCCGCGCCTTCCCC	0.627													84	70					0	0	0	0	A	73039707	G	A	73039707	3	1	169	1	0	0	0	0	1	0	0	0	17088	1087	38	1	215	1	UNC5B	10	73039707	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	35616729	73039707	62495040	63	30024											
NOLC1	9221	broad.mit.edu	37	chr10	103912172	103912172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtattgcctggaggatggCggacgccggcattcgccgcg	5	7	17	12	7	0	0	0	0	0	0	1	3	0	3	3	5	1	2	3	5	1	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr10:103912172C>T	ENST00000405356.1	+	1	240	c.5C>T	c.(4-6)gCg>gTg	p.A2V	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.A2V|NOLC1_ENST00000605788.1_Missense_Mutation_p.A2V			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	2					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TGGAGGATGGCGGACGCCGGC	0.632													30	22					0	0	0	0	T	103912172	C	T	103912172	3	4	169	1	0	0	0	0	1	0	0	0	10599	768	27	1	7	1	NOLC1	10	103912172	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	30872465	103912172	31622575	64	30025											
ADAM12	8038	broad.mit.edu	37	chr10	127843862	127843862	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtttccgtgaaactgctGgcaatgagacctctgcggaa	9	10	13	9	2	1	2	0	2	1	1	2	4	2	3	2	3	3	3	2	3	3	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr10:127843862G>T	ENST00000368679.4	-	4	582	c.273C>A	c.(271-273)gcC>gcA	p.A91A	ADAM12_ENST00000368676.4_Silent_p.A91A	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	91					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGAAACTGCTGGCAATGAGAC	0.433													9	76					0.000274275	0.000286742	1	0	T	127843862	G	T	127843862	2	4	169	1	0	0	0	0	0	0	0	1	236	1335	47	4		4	ADAM12	10	127843862	Silent	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	23931690	127843862	7690885	65	30026											
OR52B2	255725	broad.mit.edu	37	chr11	6191307	6191307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagccaaaagatggctaGggccttgggcacagtggtgg	10	8	16	7	0	0	2	0	1	0	1	0	2	0	2	2	5	1	2	2	5	4	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr11:6191307G>T	ENST00000530810.1	-	1	331	c.250C>A	c.(250-252)Cta>Ata	p.L84I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGATGGCTAGGGCCTTGGGC	0.483													39	63					1.08169e-08	1.17671e-08	1	0	T	6191307	G	T	6191307	3	4	169	1	0	0	0	0	1	0	0	0	11182	991	35	4	724	4	OR52B2	11	6191307	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08		6191307	128815209	66	30027											
OR8J3	81168	broad.mit.edu	37	chr11	55904585	55904585	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaaccaaatttgttgCtgcagatataaagactattg	17	11	8	5	0	0	2	0	0	0	2	0	3	0	3	1	1	3	3	1	1	8	6			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr11:55904585C>G	ENST00000301529.1	-	1	609	c.610G>C	c.(610-612)Gca>Cca	p.A204P		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AAATTTGTTGCTGCAGATATA	0.313													40	73					0	0	0	0	G	55904585	C	G	55904585	3	3	169	1	0	0	0	0	1	0	0	0	11313	797	28	4	339	4	OR8J3	11	55904585	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	49713278	55904585	79101931	67	30028											
OR8H1	219469	broad.mit.edu	37	chr11	56058221	56058221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaacattcagcagctccCaagaagacaaaaaagaacat	22	4	6	9	0	1	4	1	0	0	4	2	4	2	4	1	0	4	2	1	0	8	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr11:56058221C>A	ENST00000313022.2	-	1	345	c.318G>T	c.(316-318)ttG>ttT	p.L106F		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CAGCAGCTCCCAAGAAGACAA	0.428													97	204					3.07327e-39	3.72028e-39	1	0	A	56058221	C	A	56058221	3	1	169	1	0	0	0	0	1	0	0	0	11308	593	21	4	619	4	OR8H1	11	56058221	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	153636	56058221	78948295	68	30029											
H2AFX	3014	broad.mit.edu	37	chr11	118965860	118965860	+	Frame_Shift_Del	DEL	C	C	-																															ggatggccagctgcaggtggCgggggatgattcgcgtcttc																										TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr11:118965860delC	ENST00000530167.1	-	1	317	c.245delG	c.(244-246)ccfs	p.R82fs		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	82					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CTGCAGGTGGCGGGGGATGAT	0.662								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	120	---	---	---	---					-	118965860	C	-	118965860	7	5	169	1	0	1	0	1	0	0	0	0	6978	768	27	0	190	0	H2AFX	11	118965860	Frame_Shift_Del	DEL	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	62907639	118965860	16040656	69	30030											
CACNA1C	775	broad.mit.edu	37	chr12	2602465	2602465	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatggtcccaagcacggCatcaccaactttgacaactt	11	9	9	12	1	1	1	1	1	0	0	2	2	2	2	2	3	3	2	2	3	3	2			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr12:2602465C>A	ENST00000399655.1	+	7	1291	c.1026C>A	c.(1024-1026)ggC>ggA	p.G342G	CACNA1C_ENST00000344100.3_Silent_p.G342G|CACNA1C_ENST00000399597.1_Silent_p.G342G|CACNA1C_ENST00000399617.1_Silent_p.G342G|CACNA1C_ENST00000399591.1_Silent_p.G342G|CACNA1C_ENST00000406454.3_Silent_p.G342G|CACNA1C_ENST00000399634.1_Silent_p.G342G|CACNA1C_ENST00000347598.4_Silent_p.G342G|CACNA1C_ENST00000399637.1_Silent_p.G342G|CACNA1C_ENST00000480911.1_Silent_p.G342G|CACNA1C_ENST00000399638.1_Silent_p.G342G|CACNA1C_ENST00000327702.7_Silent_p.G342G|CACNA1C_ENST00000399595.1_Silent_p.G342G|CACNA1C_ENST00000399606.1_Silent_p.G342G|CACNA1C_ENST00000399649.1_Silent_p.G342G|CACNA1C_ENST00000399629.1_Silent_p.G342G|CACNA1C_ENST00000399644.1_Silent_p.G342G|CACNA1C_ENST00000399601.1_Silent_p.G342G|CACNA1C_ENST00000402845.3_Silent_p.G342G|CACNA1C_ENST00000399621.1_Silent_p.G342G|CACNA1C_ENST00000399603.1_Silent_p.G342G|CACNA1C_ENST00000399641.1_Silent_p.G342G|CACNA1C_ENST00000335762.5_Silent_p.G342G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	342					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCAAGCACGGCATCACCAACT	0.607													80	161					6.86016e-32	8.24243e-32	1	0	A	2602465	C	A	2602465	2	1	169	1	0	0	0	0	0	0	0	1	2565	697	25	4		4	CACNA1C	12	2602465	Silent	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08		2602465	131249430	70	30031											
SLCO1B1	10599	broad.mit.edu	37	chr12	21349925	21349925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgatgggttggagcttGgtggcttaatttccttgtgt	4	18	13	6	1	1	0	0	0	1	0	3	2	2	1	1	4	1	3	1	4	1	6			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr12:21349925G>T	ENST00000256958.2	+	8	869	c.773G>T	c.(772-774)tGg>tTg	p.W258L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	258					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GTTGGAGCTTGGTGGCTTAAT	0.348													52	126					1.21353e-23	1.42612e-23	1	0	T	21349925	G	T	21349925	3	4	169	1	0	0	0	0	1	0	0	0	14811	1357	47	4	799	4	SLCO1B1	12	21349925	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	18747460	21349925	112501970	71	30032											
LRRK2	120892	broad.mit.edu	37	chr12	40689364	40689364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccctaagccagaaatgctGtataagtgttcatttggagc	11	12	10	8	0	1	1	1	0	0	1	1	2	1	2	2	1	4	3	2	1	4	5			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr12:40689364G>A	ENST00000298910.7	+	23	3072	c.3014G>A	c.(3013-3015)tGt>tAt	p.C1005Y	LRRK2_ENST00000343742.2_Missense_Mutation_p.C1005Y	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1005					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CAGAAATGCTGTATAAGTGTT	0.388													38	57					0	0	0	0	A	40689364	G	A	40689364	3	1	169	1	0	0	0	0	1	0	0	0	9097	1377	48	4	3104	4	LRRK2	12	40689364	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	19339439	40689364	93162531	72	30033											
FAM19A2	338811	broad.mit.edu	37	chr12	62261196	62261196	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgctttctgtaagtatCtcttactcatcctgcaaata	9	18	5	9	0	3	0	1	0	2	0	5	0	4	0	1	0	3	5	1	0	5	7			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr12:62261196C>A	ENST00000416284.3	-	2	1595	c.11G>T	c.(10-12)aGa>aTa	p.R4I	FAM19A2_ENST00000551449.1_Missense_Mutation_p.R4I|FAM19A2_ENST00000551619.1_Missense_Mutation_p.R4I	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	4						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CTGTAAGTATCTCTTACTCAT	0.313													36	50					4.34311e-12	4.82234e-12	1	0	A	62261196	C	A	62261196	3	1	169	1	0	0	0	0	1	0	0	0	5575	913	32	2	400	2	FAM19A2	12	62261196	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	21571832	62261196	71590699	73	30034											
SOCS2	8835	broad.mit.edu	37	chr12	93968823	93968823	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctttatctgaccaaaccGctctacacgtcagcaccatc	11	9	4	17	2	3	1	1	1	2	0	4	1	3	1	4	0	3	2	4	0	3	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr12:93968823G>A	ENST00000340600.2	+	3	1063	c.465G>A	c.(463-465)ccG>ccA	p.P155P	SOCS2_ENST00000549206.1_Silent_p.P155P|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000536696.2_Silent_p.P155P|SOCS2_ENST00000549122.1_Silent_p.P155P|SOCS2_ENST00000551556.1_Silent_p.P155P	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	155	SH2.|SOCS box.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity	p.P155P(1)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						TGACCAAACCGCTCTACACGT	0.502													41	61					0	0	0	0	A	93968823	G	A	93968823	2	1	169	1	0	0	0	0	0	0	0	1	15002	1074	38	1		1	SOCS2	12	93968823	Silent	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	31707627	93968823	39883072	74	30035											
RIC8B	55188	broad.mit.edu	37	chr12	107236418	107236418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctcttgtttggatgttctCatttgtccgttaacccatga	6	18	8	9	1	2	1	1	1	2	0	5	2	3	2	2	1	1	3	2	1	1	5			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr12:107236418C>T	ENST00000392837.4	+	5	1039	c.888C>T	c.(886-888)ctC>ctT	p.L296L	RIC8B_ENST00000355478.2_Silent_p.L256L|RIC8B_ENST00000392839.2_Silent_p.L296L|RIC8B_ENST00000549643.1_Intron			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	296					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TGGATGTTCTCATTTGTCCGT	0.358													33	51					0	0	0	0	T	107236418	C	T	107236418	2	4	169	1	0	0	0	0	0	0	0	1	13439	813	29	2		2	RIC8B	12	107236418	Silent	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	13267595	107236418	26615477	75	30036											
SLITRK1	114798	broad.mit.edu	37	chr13	84455101	84455101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaccccggaggtcgaggTgggtgatgggcacatactgg	7	9	17	8	2	0	1	0	1	0	0	1	3	0	2	2	6	2	2	2	6	2	2			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr13:84455101T>C	ENST00000377084.2	-	1	1427	c.542A>G	c.(541-543)cAc>cGc	p.H181R		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	181						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGGTCGAGGTGGGTGATGGG	0.537													67	30					0	0	0	0	C	84455101	T	C	84455101	3	2	169	1	0	0	0	0	1	0	0	0	14830	1696	59	5	1552	5	SLITRK1	13	84455101	Missense_Mutation	SNP	T	TCGA-CQ-A4CI-01A-11D-A25Y-08		84455101	30714777	76	30037											
SLITRK6	84189	broad.mit.edu	37	chr13	86369375	86369375	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctttacttaatttggtCaggtggttaccatttagata	10	17	8	6	0	1	1	1	0	0	1	1	1	1	1	2	3	3	1	2	3	5	8			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr13:86369375C>A	ENST00000400286.2	-	2	1867	c.1269G>T	c.(1267-1269)ctG>ctT	p.L423L		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	423						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTAATTTGGTCAGGTGGTTAC	0.348													10	108					1.76689e-08	1.90919e-08	1	0	A	86369375	C	A	86369375	2	1	169	1	0	0	0	0	0	0	0	1	14835	813	29	2		2	SLITRK6	13	86369375	Silent	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	1914274	86369375	28800503	77	30038											
NALCN	259232	broad.mit.edu	37	chr13	101717876	101717876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctcccacgcagtagcCgcagcaggaacttgacgcgg	9	4	12	16	4	0	1	0	1	0	0	1	2	1	2	4	2	4	4	4	2	2	2			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr13:101717876C>T	ENST00000251127.6	-	40	4565	c.4484G>A	c.(4483-4485)cGg>cAg	p.R1495Q		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1495						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACGCAGTAGCCGCAGCAGGAA	0.572													88	19					0	0	0	0	T	101717876	C	T	101717876	3	4	169	1	0	0	0	0	1	0	0	0	10218	652	23	1	752	1	NALCN	13	101717876	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	15348501	101717876	13452002	78	30039											
PRKD1	5587	broad.mit.edu	37	chr14	30046468	30046468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggatgctgacacgctcaccGagggctttcatttctgtttc	7	13	10	11	2	3	1	2	1	1	0	4	3	3	2	1	2	1	4	1	2	0	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr14:30046468G>A	ENST00000331968.5	-	18	2944	c.2715C>T	c.(2713-2715)ctC>ctT	p.L905L	PRKD1_ENST00000415220.2_Silent_p.L913L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	905					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CACGCTCACCGAGGGCTTTCA	0.478													46	13					0	0	0	0	A	30046468	G	A	30046468	2	1	169	1	0	0	0	0	0	0	0	1	12598	1045	37	1		1	PRKD1	14	30046468	Silent	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08		30046468	77303072	79	30040											
FANCM	57697	broad.mit.edu	37	chr14	45628353	45628353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgagttatgatcttctcttCatttcgagatagtgttcaag	9	16	8	8	2	4	2	2	1	2	1	6	4	4	2	1	0	0	2	1	0	3	6			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr14:45628353C>T	ENST00000267430.5	+	9	1536	c.1451C>T	c.(1450-1452)tCa>tTa	p.S484L	FANCM_ENST00000542564.2_Missense_Mutation_p.S458L|FANCM_ENST00000556036.1_Missense_Mutation_p.S484L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	484	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATCTTCTCTTCATTTCGAGAT	0.348								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				39	9					0	0	0	0	T	45628353	C	T	45628353	3	4	169	1	0	0	0	0	1	0	0	0	5716	838	29	2	1485	2	FANCM	14	45628353	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	15581885	45628353	61721187	80	30041											
MAP1A	4130	broad.mit.edu	37	chr15	43818933	43818933	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcccctgggcctcagaCttcaaggatttccaggaatc	9	8	11	13	1	2	1	2	0	0	1	4	4	3	4	4	4	1	0	4	4	2	2			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr15:43818933C>T	ENST00000382031.1	+	5	6007	c.5976C>T	c.(5974-5976)gaC>gaT	p.D1992D	MAP1A_ENST00000300231.5_Silent_p.D1754D|MAP1A_ENST00000399453.1_Silent_p.D1754D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1754						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGCCTCAGACTTCAAGGATT	0.567													64	94					0	0	0	0	T	43818933	C	T	43818933	2	4	169	1	0	0	0	0	0	0	0	1	9296	564	20	4		4	MAP1A	15	43818933	Silent	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08		43818933	58712459	81	30042											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499903	59499903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtggagtggagtgaacaTagctggtgtccctttgaagg	8	12	16	5	0	0	2	0	2	0	0	1	4	1	4	1	4	2	1	1	4	3	2			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr15:59499903T>C	ENST00000307144.4	+	1	862	c.764T>C	c.(763-765)aTa>aCa	p.I255T	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	255					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GGAGTGAACATAGCTGGTGTC	0.448													34	58					0	0	0	0	C	59499903	T	C	59499903	3	2	169	1	0	0	0	0	1	0	0	0	8753	1406	49	5	766	5	LDHAL6B	15	59499903	Missense_Mutation	SNP	T	TCGA-CQ-A4CI-01A-11D-A25Y-08	15680970	59499903	43031489	82	30043											
SLC24A1	9187	broad.mit.edu	37	chr15	65917572	65917572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaacccctacggtcagggCaaagctgaccatgcaggtcc	12	5	10	14	1	1	1	1	1	0	0	2	1	2	1	4	3	5	3	4	3	4	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr15:65917572C>A	ENST00000261892.6	+	2	1441	c.1154C>A	c.(1153-1155)gCa>gAa	p.A385E	SLC24A1_ENST00000537259.1_Missense_Mutation_p.A385E|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A385E|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A385E|SLC24A1_ENST00000546330.1_Missense_Mutation_p.A385E|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A385E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	385					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACGGTCAGGGCAAAGCTGACC	0.577													35	61					1.62565e-12	1.81756e-12	1	0	A	65917572	C	A	65917572	3	1	169	1	0	0	0	0	1	0	0	0	14553	710	25	4		4	SLC24A1	15	65917572	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	6417669	65917572	36613820	83	30044											
AMDHD2	51005	broad.mit.edu	37	chr16	2578082	2578082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcactcagtggctgacctgcGggcggcagaggatgctgtgt	6	8	17	10	2	1	2	1	1	0	1	1	3	1	3	1	4	2	4	1	4	0	0			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr16:2578082G>A	ENST00000302956.4	+	6	744	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000293971.6_Missense_Mutation_p.R217Q|AMDHD2_ENST00000413459.3_Missense_Mutation_p.R217Q|CEMP1_ENST00000382350.1_Intron			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	217					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GCTGACCTGCGGGCGGCAGAG	0.682													48	24					0	0	0	0	A	2578082	G	A	2578082	3	1	169	1	0	0	0	0	1	0	0	0	568	1116	39	1	672	1	AMDHD2	16	2578082	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08		2578082	87776671	84	30045											
CREBBP	1387	broad.mit.edu	37	chr16	3781794	3781794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctccttgtgcttctccaTggtggcatacagcttctggg	5	14	10	12	0	2	0	0	0	2	0	4	0	3	0	3	3	4	3	3	3	2	5			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr16:3781794T>C	ENST00000262367.5	-	29	5682	c.4873A>G	c.(4873-4875)Atg>Gtg	p.M1625V	CREBBP_ENST00000382070.3_Missense_Mutation_p.M1587V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1625	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.M1625V(1)|p.M1625L(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCTTCTCCATGGTGGCATAC	0.612			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						58	28					0	0	0	0	C	3781794	T	C	3781794	3	2	169	1	0	0	0	0	1	0	0	0	3891	1464	51	5	2467	5	CREBBP	16	3781794	Missense_Mutation	SNP	T	TCGA-CQ-A4CI-01A-11D-A25Y-08	1203712	3781794	86572959	85	30046											
CDH8	1006	broad.mit.edu	37	chr16	61854850	61854850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttagccttataatgcCatcctgggcctgggcatcag	7	14	9	11	0	2	0	1	0	1	0	3	0	3	0	4	2	2	1	4	2	3	5			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr16:61854850C>A	ENST00000577390.1	-	6	1957	c.1003G>T	c.(1003-1005)Ggc>Tgc	p.G335C	CDH8_ENST00000299345.6_Missense_Mutation_p.G335C|CDH8_ENST00000584337.1_Missense_Mutation_p.G335C|CDH8_ENST00000577730.1_Missense_Mutation_p.G335C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	335	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTTATAATGCCATCCTGGGCC	0.383													33	63					2.47316e-13	2.78446e-13	1	0	A	61854850	C	A	61854850	3	1	169	1	0	0	0	0	1	0	0	0	3145	594	21	4	1424	4	CDH8	16	61854850	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	58073056	61854850	28499903	86	30047											
CNTNAP4	85445	broad.mit.edu	37	chr16	76573651	76573651	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtacaagttaaataaatatCaagagcctgatgttgttaac	16	12	8	5	0	1	2	1	1	0	1	1	2	1	2	1	1	3	4	1	1	9	6			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr16:76573651C>G	ENST00000307431.8	+	21	3638	c.3253C>G	c.(3253-3255)Caa>Gaa	p.Q1085E	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q1037E|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q1013E|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.Q1089E	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1086	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AAATAAATATCAAGAGCCTGA	0.343													44	45					0	0	0	0	G	76573651	C	G	76573651	3	3	169	1	0	0	0	0	1	0	0	0	3679	827	29	2	3347	2	CNTNAP4	16	76573651	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	14718801	76573651	13781102	87	30048											
FANCA	2175	broad.mit.edu	37	chr16	89807210	89807210	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctggtaaggtctgacttAcatttgaggtcagatgtgac	9	13	13	6	0	2	4	1	3	1	1	2	4	2	4	0	4	1	2	0	4	2	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr16:89807210A>T	ENST00000389301.3	-	38	3859		c.e38+1		FANCA_ENST00000568369.1_Splice_Site|ZNF276_ENST00000289816.5_3'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A						DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGTCTGACTTACATTTGAGGT	0.483			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	17					0	0	0	0	T	89807210	A	T	89807210	5	4	169	1	0	0	0	0	0	0	1	0	5707	405	14	5	561	5	FANCA	16	89807210	Splice_Site	SNP	A	TCGA-CQ-A4CI-01A-11D-A25Y-08	13233559	89807210	547543	88	30049											
WSCD1	23302	broad.mit.edu	37	chr17	6021339	6021350	+	In_Frame_Del	DEL	CCGACGCACCAT	CCGACGCACCAT	-																															gaaaaggaccactggcggagCcgacgcaccatctgtgtcaa																										TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr17:6021339_6021350delCCGACGCACCAT	ENST00000574946.1	+	8	1596_1607	c.1206_1217delCCGACGCACCAT	c.(1204-1218)agc>ag	p.SRRTI402del	WSCD1_ENST00000573634.1_In_Frame_Del_p.SRRTI286del|WSCD1_ENST00000317744.5_In_Frame_Del_p.SRRTI402del|WSCD1_ENST00000539421.1_In_Frame_Del_p.SRRTI402del|WSCD1_ENST00000574232.1_In_Frame_Del_p.SRRTI402del			Q658N2	WSCD1_HUMAN	WSC domain containing 1	402						integral to membrane	sulfotransferase activity	p.R404H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACTGGCGGAGCCGACGCACCATCTGTGTCAAA	0.552													29	39	---	---	---	---					-	6021350	CCGACGCACCAT	-	6021339	7	5	169	1	0	1	0	1	0	0	0	0	17502	738	26	0	1232	0	WSCD1	17	6021339	In_Frame_Del	DEL	CCGACGCACCAT	TCGA-CQ-A4CI-01A-11D-A25Y-08		6021339	75173871	89	30050											
LLGL1	3996	broad.mit.edu	37	chr17	18145527	18145527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccaggctaacgggacccCaagcatcctgctggccccac	9	4	11	17	1	0	0	0	0	0	0	1	2	1	1	6	3	4	3	6	3	2	1	rs150245335	byFrequency	TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr17:18145527C>T	ENST00000316843.4	+	20	3026	c.2930C>T	c.(2929-2931)cCa>cTa	p.P977L		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	977					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					AACGGGACCCCAAGCATCCTG	0.617													7	140					0	0	0	0	T	18145527	C	T	18145527	3	4	169	1	0	0	0	0	1	0	0	0	8888	594	21	4	3008	4	LLGL1	17	18145527	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	12124188	18145527	63049683	90	30051											
ZNF830	91603	broad.mit.edu	37	chr17	33289647	33289647	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgacagcgatgatgaGggggaactacaggatttgtt	12	10	14	5	1	0	3	0	3	0	0	0	6	0	5	0	3	4	2	0	3	3	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr17:33289647G>A	ENST00000361952.3	+	1	1099	c.1062G>A	c.(1060-1062)gaG>gaA	p.E354E		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	354					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				GCGATGATGAGGGGGAACTAC	0.408													40	58					0	0	0	0	A	33289647	G	A	33289647	2	1	169	1	0	0	0	0	0	0	0	1	18277	991	35	4		4	ZNF830	17	33289647	Silent	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	15144120	33289647	47905563	91	30052											
TANC2	26115	broad.mit.edu	37	chr17	61473152	61473152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctttggttcatgctgcaCtccgaggtcatctggaggtt	5	14	13	9	1	3	0	2	0	1	0	4	2	4	1	1	4	3	5	1	4	0	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr17:61473152C>G	ENST00000424789.2	+	16	2882	c.2878C>G	c.(2878-2880)Ctc>Gtc	p.L960V	RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.L960V	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	960							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCATGCTGCACTCCGAGGTCA	0.498													15	6					0	0	0	0	G	61473152	C	G	61473152	3	3	169	1	0	0	0	0	1	0	0	0	15636	565	20	4	2940	4	TANC2	17	61473152	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	28183505	61473152	19722058	92	30053											
SLC38A10	124565	broad.mit.edu	37	chr17	79226361	79226361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggagcctttccgcccgCgtgtctggatggaggtttgt	3	12	14	12	3	1	0	0	0	1	0	2	3	2	3	4	4	1	1	4	4	0	2			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr17:79226361C>T	ENST00000374759.3	-	13	1962	c.1579G>A	c.(1579-1581)Gcg>Acg	p.A527T	SLC38A10_ENST00000288439.5_Missense_Mutation_p.A527T	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	527					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTTCCGCCCGCGTGTCTGGAT	0.622													47	88					0	0	0	0	T	79226361	C	T	79226361	3	4	169	1	0	0	0	0	1	0	0	0	14690	768	27	1	2074	1	SLC38A10	17	79226361	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	17753209	79226361	1968849	93	30054											
FASN	2194	broad.mit.edu	37	chr17	80045897	80045897	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccaggagccgtacctcCagggacactgtccctgcaga	8	6	11	16	1	0	1	0	0	0	1	3	3	3	3	6	2	3	2	6	2	1	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr17:80045897C>T	ENST00000306749.2	-	18	3017	c.2799G>A	c.(2797-2799)ctG>ctA	p.L933L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	933					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCCGTACCTCCAGGGACACTG	0.667													36	72					0	0	0	0	T	80045897	C	T	80045897	2	4	169	1	0	0	0	0	0	0	0	1	5728	581	21	4		4	FASN	17	80045897	Silent	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	819536	80045897	1149313	94	30055											
FOXK2	3607	broad.mit.edu	37	chr17	80478021	80478021	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgagatcttcacgccccCgggcggcggcggccatggcg	4	5	15	17	7	2	1	1	0	1	1	3	2	2	1	4	5	0	0	4	5	0	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr17:80478021C>G	ENST00000335255.5	+	1	431	c.257C>G	c.(256-258)cCg>cGg	p.P86R		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	86	FHA.|Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).	embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TTCAcgcccccgggcggcggc	0.731													11	10					0	0	0	0	G	80478021	C	G	80478021	3	3	169	1	0	0	0	0	1	0	0	0	6062	652	23	3	259	3	FOXK2	17	80478021	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	432124	80478021	717189	95	30056											
SPIRE1	56907	broad.mit.edu	37	chr18	12493138	12493138	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttctgctttaatttcttcTaatattctttcatggaggct	7	21	5	8	0	5	0	1	0	4	0	5	1	5	1	0	2	1	2	0	2	3	9			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr18:12493138T>C	ENST00000409402.4	-	8	1389	c.1122A>G	c.(1120-1122)ttA>ttG	p.L374L	SPIRE1_ENST00000383356.2_Silent_p.L215L|SPIRE1_ENST00000410092.3_Silent_p.L374L|SPIRE1_ENST00000453447.2_Silent_p.L254L|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Silent_p.L177L	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	374	WH2 2.					cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TAATTTCTTCTAATATTCTTT	0.438													30	46					0	0	0	0	C	12493138	T	C	12493138	2	2	169	1	0	0	0	0	0	0	0	1	15161	1519	53	5		5	SPIRE1	18	12493138	Silent	SNP	T	TCGA-CQ-A4CI-01A-11D-A25Y-08		12493138	65584110	96	30057											
ZNF532	55205	broad.mit.edu	37	chr18	56586563	56586563	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcagcaaaggatccccGtcctctcccgcagggtccac	10	5	9	17	2	1	0	0	0	1	0	5	1	4	1	5	2	3	3	5	2	2	0			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr18:56586563G>A	ENST00000336078.4	+	4	1820	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P	ZNF532_ENST00000591230.1_Silent_p.P348P|ZNF532_ENST00000591808.1_Silent_p.P348P|ZNF532_ENST00000591083.1_Silent_p.P348P|ZNF532_ENST00000589288.1_Silent_p.P348P	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P348P(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AAGGATCCCCGTCCTCTCCCG	0.507													54	26					0	0	0	0	A	56586563	G	A	56586563	2	1	169	1	0	0	0	0	0	0	0	1	18067	1132	40	1		1	ZNF532	18	56586563	Silent	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	44093425	56586563	21490685	97	30058											
ZNF559	84527	broad.mit.edu	37	chr19	9449975	9449975	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgtgatgctggagaactAtaagaatctagttgcagtag	14	11	12	4	0	1	4	0	1	1	3	1	5	1	4	0	1	3	4	0	1	6	5			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr19:9449975A>G	ENST00000393883.2	+	4	788	c.140A>G	c.(139-141)tAt>tGt	p.Y47C	ZNF559_ENST00000317221.7_Missense_Mutation_p.Y47C|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000586255.1_Missense_Mutation_p.Y75C|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000585352.1_Missense_Mutation_p.Y47C|ZNF559_ENST00000592896.1_Missense_Mutation_p.Y75C|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Intron|ZNF559_ENST00000592504.1_Missense_Mutation_p.Y47C|ZNF559_ENST00000587557.1_Missense_Mutation_p.Y111C|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.Y47C|ZNF177_ENST00000602856.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CTGGAGAACTATAAGAATCTA	0.408													80	105					0	0	0	0	G	9449975	A	G	9449975	3	3	169	1	0	0	0	0	1	0	0	0	18085	449	16	5	146	5	ZNF559	19	9449975	Missense_Mutation	SNP	A	TCGA-CQ-A4CI-01A-11D-A25Y-08		9449975	49679008	98	30059											
KIAA1683	80726	broad.mit.edu	37	chr19	18368530	18368530	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagctccacccacgtgacGgggtggagcatctgccagtg	7	6	13	15	2	1	1	0	1	1	0	2	2	2	2	4	3	3	2	4	3	0	0			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr19:18368530G>A	ENST00000392413.3	-	4	3779	c.3564C>T	c.(3562-3564)ccC>ccT	p.P1188P	KIAA1683_ENST00000600328.2_Silent_p.P1001P|KIAA1683_ENST00000600359.2_Silent_p.P955P	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCCACGTGACGGGGTGGAGCA	0.667													34	57					0	0	0	0	A	18368530	G	A	18368530	2	1	169	1	0	0	0	0	0	0	0	1	8302	1103	39	1		1	KIAA1683	19	18368530	Silent	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	8918555	18368530	40760453	99	30060											
GMIP	51291	broad.mit.edu	37	chr19	19740953	19740953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcagggctgggccccCgcccccgcaaactccctctg	5	5	11	20	2	1	0	0	0	1	0	2	0	2	0	5	2	3	4	5	2	1	0			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr19:19740953C>T	ENST00000203556.4	-	21	2869	c.2732G>A	c.(2731-2733)cGg>cAg	p.R911Q	GMIP_ENST00000587238.1_Missense_Mutation_p.R885Q|GMIP_ENST00000445806.2_Missense_Mutation_p.R882Q	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	911					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCTGGGCCCCCGCCCCCGCAA	0.672													11	23					0	0	0	0	T	19740953	C	T	19740953	3	4	169	1	0	0	0	0	1	0	0	0	6542	652	23	1	184	1	GMIP	19	19740953	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	1372423	19740953	39388030	100	30061											
SLC7A9	11136	broad.mit.edu	37	chr19	33355054	33355054	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgaggaggcttgcagccCacatagaagggcgcacacac	12	6	12	11	1	0	2	0	1	0	1	0	3	0	3	1	3	2	3	1	3	2	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr19:33355054C>T	ENST00000023064.4	-	4	617	c.426G>A	c.(424-426)gtG>gtA	p.V142V	SLC7A9_ENST00000587772.1_Silent_p.V142V|SLC7A9_ENST00000590341.1_Silent_p.V142V	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	142			V -> A (in dbSNP:rs12150889).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCTTGCAGCCCACATAGAAGG	0.587													16	19					0	0	0	0	T	33355054	C	T	33355054	2	4	169	1	0	0	0	0	0	0	0	1	14793	581	21	4		4	SLC7A9	19	33355054	Silent	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	13614101	33355054	25773929	101	30062											
PLA2G4C	8605	broad.mit.edu	37	chr19	48602939	48602939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacttacttctctggtttGcttagagataaccatgtagg	10	15	9	7	0	1	2	0	1	1	1	2	3	1	2	1	2	3	3	1	2	4	6			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr19:48602939G>T	ENST00000354276.3	-	5	763	c.436C>A	c.(436-438)Caa>Aaa	p.Q146K	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.Q156K|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.Q146K|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.Q146K	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	146	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCTCTGGTTTGCTTAGAGATA	0.542													5	67					0.014758	0.0150382	1	0	T	48602939	G	T	48602939	3	4	169	1	0	0	0	0	1	0	0	0	12075	1328	46	4	1245	4	PLA2G4C	19	48602939	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	15247885	48602939	10526044	102	30063											
ZNF444	55311	broad.mit.edu	37	chr19	56671029	56671029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgaggggccggcgcctgGggactcccaggctgtgcgcc	3	5	19	14	3	0	1	0	1	0	0	1	2	1	2	4	7	1	2	4	7	0	0			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr19:56671029G>A	ENST00000337080.3	+	5	810	c.443G>A	c.(442-444)gGg>gAg	p.G148E	ZNF444_ENST00000592949.1_Missense_Mutation_p.G147E|ZNF444_ENST00000592171.1_3'UTR	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	148					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		CCGGCGCCTGGGGACTCCCAG	0.726													3	0					0	0	0	0	A	56671029	G	A	56671029	3	1	169	1	0	0	0	0	1	0	0	0	18012	1232	43	4	453	4	ZNF444	19	56671029	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	8068090	56671029	2457954	103	30064											
ZNF417	147687	broad.mit.edu	37	chr19	58420556	58420556	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttaataaagcagaactTctgacgaaaagatttcccac	16	10	7	8	1	1	3	0	1	1	2	2	4	2	3	1	1	2	2	1	1	6	4			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr19:58420556T>A	ENST00000312026.5	-	3	1254	c.1090A>T	c.(1090-1092)Aag>Tag	p.K364*	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Nonsense_Mutation_p.K165*|ZNF417_ENST00000595559.1_Nonsense_Mutation_p.K363*	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		AAGCAGAACTTCTGACGAAAA	0.433													88	63					0	0	0	0	A	58420556	T	A	58420556	4	1	169	1	0	0	0	0	0	1	0	0	17989	1792	62	5	641	5	ZNF417	19	58420556	Nonsense_Mutation	SNP	T	TCGA-CQ-A4CI-01A-11D-A25Y-08	1749527	58420556	708427	104	30065											
C20orf26	26074	broad.mit.edu	37	chr20	20232255	20232255	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagccactgttttaatgatAaagattatgcactgatgtca	13	13	8	7	0	1	3	1	2	0	1	1	3	1	3	1	0	2	3	1	0	4	4			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr20:20232255A>G	ENST00000245957.5	+	20	2252	c.2176A>G	c.(2176-2178)Aaa>Gaa	p.K726E	C20orf26_ENST00000377293.1_Missense_Mutation_p.K82E|C20orf26_ENST00000377309.2_Missense_Mutation_p.K82E|C20orf26_ENST00000389656.3_Missense_Mutation_p.K82E	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	726										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTTTAATGATAAAGATTATGC	0.493													89	100					0	0	0	0	G	20232255	A	G	20232255	3	3	169	1	0	0	0	0	1	0	0	0	2126	363	13	5	2282	5	C20orf26	20	20232255	Missense_Mutation	SNP	A	TCGA-CQ-A4CI-01A-11D-A25Y-08		20232255	42793265	105	30066											
ACSS1	84532	broad.mit.edu	37	chr20	25011639	25011639	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagatggaggagggccAaaatgcagagcagtttgggg	13	6	17	5	0	1	2	1	0	0	2	1	5	1	4	1	5	2	3	1	5	2	1	rs60849220	by1000genomes	TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr20:25011639A>G	ENST00000537502.1	-	1	1669	c.138T>C	c.(136-138)ttT>ttC	p.F46F	ACSS1_ENST00000323482.4_Intron|ACSS1_ENST00000542618.1_Intron|ACSS1_ENST00000432802.2_Intron			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	0	Poly-Ala.				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAGGAGGGCCAAAATGCAGAG	0.517													3	23					0	0	0	0	G	25011639	A	G	25011639	2	3	169	1	0	0	0	0	0	0	0	1	188	145	5	5		5	ACSS1	20	25011639	Silent	SNP	A	TCGA-CQ-A4CI-01A-11D-A25Y-08	4779384	25011639	38013881	106	30067											
BAGE2	85319	broad.mit.edu	37	chr21	11039233	11039233	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgattcttctttggatacCactgttttaggttcctctaa	7	19	6	9	0	3	1	0	1	3	0	4	2	4	2	2	2	1	2	2	2	3	9			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr21:11039233C>A	ENST00000470054.1	-	0	970									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTTGGATACCACTGTTTTAG	0.403													33	241					1.30897e-18	1.52713e-18	1	0	A	11039233	C	A	11039233	1	1	169	0	1	0	0	0	0	0	0	0	1296	609	21	4		4	BAGE2	21	11039233	RNA	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08		11039233	37090662	107	30068											
DIP2A	23181	broad.mit.edu	37	chr21	47969742	47969742	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggattgtcctggtggctgagCagcggccggatgcctcggag	5	8	18	10	3	0	1	0	1	0	0	2	4	1	4	3	6	3	2	3	6	0	1			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr21:47969742C>T	ENST00000318711.7	+	22	2767	c.2584C>T	c.(2584-2586)Cag>Tag	p.Q862*	DIP2A_ENST00000400274.1_Nonsense_Mutation_p.Q857*|DIP2A_ENST00000457905.3_Nonsense_Mutation_p.Q861*|DIP2A_ENST00000427143.2_Nonsense_Mutation_p.Q797*|DIP2A_ENST00000417564.2_Nonsense_Mutation_p.Q861*	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	861					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGTGGCTGAGCAGCGGCCGGA	0.637													52	29					0	0	0	0	T	47969742	C	T	47969742	4	4	169	1	0	0	0	0	0	1	0	0	4564	711	25	4	2716	4	DIP2A	21	47969742	Nonsense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	36930509	47969742	160153	108	30069											
ARVCF	421	broad.mit.edu	37	chr22	19969136	19969136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacgcagcaggaaatgcCggtccagggcaccatctgca	11	4	11	15	2	1	0	0	0	1	0	2	1	2	1	4	3	3	4	4	3	1	0			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chr22:19969136C>T	ENST00000263207.3	-	5	785	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	ARVCF_ENST00000406522.1_Missense_Mutation_p.R102Q|ARVCF_ENST00000406259.1_Missense_Mutation_p.R165Q|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000344269.3_Missense_Mutation_p.R102Q|ARVCF_ENST00000401994.1_Missense_Mutation_p.R102Q	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	165					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CAGGAAATGCCGGTCCAGGGC	0.682													33	50					0	0	0	0	T	19969136	C	T	19969136	3	4	169	1	0	0	0	0	1	0	0	0	1007	652	23	1	2454	1	ARVCF	22	19969136	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08		19969136	31335430	109	30070											
FAM47C	442444	broad.mit.edu	37	chrX	37029109	37029109	+	Missense_Mutation	SNP	C	C	A																															gcagtctgtttgactttaccCctgagtgcagagcaacctat																										TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chrX:37029109C>A	ENST00000358047.3	+	1	2678	c.2626C>A	c.(2626-2628)Cct>Act	p.P876T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	876										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGACTTTACCCCTGAGTGCAG	0.463													46	12					5.20006e-24	6.15595e-24	1	0	A	37029109	C	A	37029109	3	1	169	1	0	0	0	0	1	0	0	0	5618	623	22	4	2628	4	FAM47C	23	37029109	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08		37029109	118241451	110	30071	231	2									
FAM47C	442444	broad.mit.edu	37	chrX	37029110	37029110	+	Missense_Mutation	SNP	C	C	T																															cagtctgtttgactttacccCtgagtgcagagcaacctatc																										TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chrX:37029110C>T	ENST00000358047.3	+	1	2679	c.2627C>T	c.(2626-2628)cCt>cTt	p.P876L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	876										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GACTTTACCCCTGAGTGCAGA	0.468													45	12					0	0	0	0	T	37029110	C	T	37029110	3	4	169	1	0	0	0	0	1	0	0	0	5618	681	24	4	2629	4	FAM47C	23	37029110	Missense_Mutation	SNP	C	TCGA-CQ-A4CI-01A-11D-A25Y-08	1	37029110	118241450	111	30072	231	2									
WNK3	65267	broad.mit.edu	37	chrX	54259280	54259280	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacatgtgtcaaggacTgggggcggcttcgaagtttg	7	11	15	8	2	1	0	1	0	0	0	3	2	2	1	1	4	0	2	1	4	2	2			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chrX:54259280T>A	ENST00000354646.2	-	21	5240	c.4802A>T	c.(4801-4803)cAg>cTg	p.Q1601L	WNK3_ENST00000375169.3_Missense_Mutation_p.Q1554L|WNK3_ENST00000375159.2_Missense_Mutation_p.Q1601L	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1554					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTCAAGGACTGGGGGCGGCT	0.383													49	9					0	0	0	0	A	54259280	T	A	54259280	3	1	169	1	0	0	0	0	1	0	0	0	17475	1580	55	5	616	5	WNK3	23	54259280	Missense_Mutation	SNP	T	TCGA-CQ-A4CI-01A-11D-A25Y-08	17230170	54259280	101011280	112	30073											
HEPH	9843	broad.mit.edu	37	chrX	65427085	65427085	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggctcctgggttccagAtacaagaaagctgtattcag	11	10	12	8	0	1	2	1	0	0	2	3	3	3	2	2	2	2	4	2	2	4	4			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chrX:65427085A>G	ENST00000519389.1	+	14	2681	c.2502A>G	c.(2500-2502)agA>agG	p.R834R	HEPH_ENST00000374727.3_Silent_p.R783R|HEPH_ENST00000419594.1_Silent_p.R591R|HEPH_ENST00000441993.2_Silent_p.R783R|HEPH_ENST00000336279.5_Silent_p.R513R|HEPH_ENST00000343002.2_Silent_p.R780R			Q9BQS7	HEPH_HUMAN	hephaestin	780	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGGGTTCCAGATACAAGAAAG	0.468													27	9					0	0	0	0	G	65427085	A	G	65427085	2	3	169	1	0	0	0	0	0	0	0	1	7104	330	12	5		5	HEPH	23	65427085	Silent	SNP	A	TCGA-CQ-A4CI-01A-11D-A25Y-08	11167805	65427085	89843475	113	30074											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913745	77913745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagcttctggggctccttgGcctctgaggactttcggagt	4	12	15	10	1	2	1	0	1	2	0	4	4	3	4	2	6	1	2	2	6	0	3			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chrX:77913745G>T	ENST00000321110.1	-	2	468	c.173C>A	c.(172-174)gCc>gAc	p.A58D		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	58							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGGCTCCTTGGCCTCTGAGGA	0.572													17	5					4.7546e-09	5.20742e-09	1	0	T	77913745	G	T	77913745	3	4	169	1	0	0	0	0	1	0	0	0	17686	1203	42	4	1258	4	ZCCHC5	23	77913745	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	12486660	77913745	77356815	114	30075											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177196	89177196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatcatgtcgagaaataacGcagatacaggcagagttctt	15	9	9	8	2	2	3	1	0	1	3	3	4	2	3	0	1	2	3	0	1	4	4			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chrX:89177196G>A	ENST00000561129.2	+	1	242	c.112G>A	c.(112-114)Gca>Aca	p.A38T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.A38T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	38						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GAGAAATAACGCAGATACAGG	0.552													35	7					0	0	0	0	A	89177196	G	A	89177196	3	1	169	1	0	0	0	0	1	0	0	0	15921	1087	38	1	114	1	TGIF2LX	23	89177196	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	11263451	89177196	66093364	115	30076											
TCEAL2	140597	broad.mit.edu	37	chrX	101381889	101381889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaccgcacgagggaaaGccagaagtagcttgtattct	12	7	11	11	2	1	1	0	0	1	1	1	3	1	2	3	1	3	4	3	1	4	4			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ABCADACD-7540-4143-AB82-15889248D286	83A03ED6-2B0B-42F5-BAC6-D5146DF9C520	g.chrX:101381889G>T	ENST00000372780.1	+	3	306	c.87G>T	c.(85-87)aaG>aaT	p.K29N	TCEAL2_ENST00000329035.2_Missense_Mutation_p.K29N	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						ACGAGGGAAAGCCAGAAGTAG	0.423													34	13					3.90053e-15	4.48561e-15	1	0	T	101381889	G	T	101381889	3	4	169	1	0	0	0	0	1	0	0	0	15765	962	34	4	89	4	TCEAL2	23	101381889	Missense_Mutation	SNP	G	TCGA-CQ-A4CI-01A-11D-A25Y-08	12204693	101381889	53888671	116	30077											
IL22RA1	58985	broad.mit.edu	37	chr1	24465129	24465129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccggcccgctgtcccacGtcaggatgttttcaaagttg	6	11	10	14	3	2	0	2	0	0	0	4	1	4	1	4	2	0	3	4	2	1	3			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:24465129G>A	ENST00000270800.1	-	2	157	c.119C>T	c.(118-120)aCg>aTg	p.T40M		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	40	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GCTGTCCCACGTCAGGATGTT	0.582													14	84					0	0	0	0	A	24465129	G	A	24465129	3	1	170	1	0	0	0	0	1	0	0	0	7726	1145	40	1	1629	1	IL22RA1	1	24465129	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08		24465129	224785492	1	30078											
LRRC41	10489	broad.mit.edu	37	chr1	46745880	46745880	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaccttgcagagtcagattCtgtagcaaaaagagcacctc	13	10	8	10	0	2	3	1	0	1	3	3	3	2	3	2	0	4	4	2	0	4	4			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:46745880C>T	ENST00000343304.6	-	7	2289	c.2004G>A	c.(2002-2004)caG>caA	p.Q668Q	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	668										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAGTCAGATTCTGTAGCAAAA	0.468													25	67					0	0	0	0	T	46745880	C	T	46745880	2	4	170	1	0	0	0	0	0	0	0	1	9063	912	32	2		2	LRRC41	1	46745880	Silent	SNP	C	TCGA-CR-5243-01A-01D-1512-08	22280751	46745880	202504741	2	30079											
HFM1	164045	broad.mit.edu	37	chr1	91727872	91727872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttataatttgaagaatttggGtttttttcagagaaagtaaa	15	17	8	1	0	1	3	1	1	0	2	1	4	1	3	0	1	0	2	0	1	7	8			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:91727872G>T	ENST00000370425.3	-	38	4262	c.4164C>A	c.(4162-4164)aaC>aaA	p.N1388K	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_3'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.N1067K	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1388							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAGAATTTGGGTTTTTTTCAG	0.284													50	83					4.00472e-15	4.55439e-15	1	0	T	91727872	G	T	91727872	3	4	170	1	0	0	0	0	1	0	0	0	7133	1252	44	4	151	4	HFM1	1	91727872	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08	44981992	91727872	157522749	3	30080											
CSDE1	7812	broad.mit.edu	37	chr1	115261328	115261328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaagcgattgaccaacCgatcaggtcgaggagctgca	11	8	11	11	3	3	1	2	1	1	0	4	5	3	2	2	2	4	2	2	2	2	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:115261328C>T	ENST00000438362.2	-	19	2771	c.2393G>A	c.(2392-2394)cGg>cAg	p.R798Q	CSDE1_ENST00000358528.4_Missense_Mutation_p.R752Q|CSDE1_ENST00000339438.6_Missense_Mutation_p.R721Q|CSDE1_ENST00000483407.1_5'UTR|CSDE1_ENST00000534699.1_Missense_Mutation_p.R752Q|CSDE1_ENST00000261443.5_Missense_Mutation_p.R721Q|CSDE1_ENST00000530886.1_Missense_Mutation_p.R622Q|CSDE1_ENST00000369530.1_Missense_Mutation_p.R767Q	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	752					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		ATTGACCAACCGATCAGGTCG	0.498													3	71					0	0	0	0	T	115261328	C	T	115261328	3	4	170	1	0	0	0	0	1	0	0	0	3961	652	23	1	149	1	CSDE1	1	115261328	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	23533456	115261328	133989293	4	30081											
RORC	6097	broad.mit.edu	37	chr1	151804261	151804261	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagctcccttggtgccGtcctggctgccctggctgcc	1	9	15	16	1	0	0	0	0	0	0	2	0	2	0	5	5	4	4	5	5	0	1			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:151804261G>A	ENST00000318247.6	-	0	87					NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTTGGTGCCGTCCTGGCTGC	0.711													45	78					0	0	0	0	A	151804261	G	A	151804261	1	1	170	1	0	0	0	0	0	0	0	0	13615	1160	40	1		1	RORC	1	151804261	Translation_Start_Site	SNP	G	TCGA-CR-5243-01A-01D-1512-08	36542933	151804261	97446360	5	30082											
TMEM79	84283	broad.mit.edu	37	chr1	156255560	156255560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggcagtggtgaggccGcctggctgttcctgtggggg	3	9	20	9	1	0	2	0	2	0	0	1	2	1	2	3	6	0	4	3	6	0	1	rs140033065	byFrequency	TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:156255560G>A	ENST00000405535.2	+	2	714	c.543G>A	c.(541-543)ccG>ccA	p.P181P	TMEM79_ENST00000295694.5_Silent_p.P181P|TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000495881.1_3'UTR	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	181						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGGTGAGGCCGCCTGGCTGTT	0.682													35	52					0	0	0	0	A	156255560	G	A	156255560	2	1	170	1	0	0	0	0	0	0	0	1	16297	1074	38	1		1	TMEM79	1	156255560	Silent	SNP	G	TCGA-CR-5243-01A-01D-1512-08	4451299	156255560	92995061	6	30083											
AKT3	10000	broad.mit.edu	37	chr1	243727052	243727052	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatattctggagtgccacaGaatgtcttcatggtggctgc	9	12	12	8	0	3	2	1	0	2	2	3	3	3	3	1	3	2	1	1	3	2	3			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:243727052G>A	ENST00000366539.1	-	10	1118	c.918C>T	c.(916-918)ttC>ttT	p.F306F	AKT3_ENST00000366540.1_Silent_p.F306F|AKT3_ENST00000263826.5_Silent_p.F306F|AKT3_ENST00000336199.5_Silent_p.F306F			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	306	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GAGTGCCACAGAATGTCTTCA	0.398													38	131					0	0	0	0	A	243727052	G	A	243727052	2	1	170	1	0	0	0	0	0	0	0	1	481	933	33	2		2	AKT3	1	243727052	Silent	SNP	G	TCGA-CR-5243-01A-01D-1512-08	87471492	243727052	5523569	7	30084											
YWHAQ	10971	broad.mit.edu	37	chr2	9770492	9770492	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagctcggcgccctgctcGgtcactgccttcatgcaggt	5	9	12	15	3	2	0	2	0	0	0	4	1	2	0	2	3	4	3	2	3	0	1			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:9770492G>C	ENST00000381844.4	-	1	253	c.90C>G	c.(88-90)acC>acG	p.T30T	YWHAQ_ENST00000238081.3_Silent_p.T30T			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	30					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CGCCCTGCTCGGTCACTGCCT	0.662													25	28					0	0	0	0	C	9770492	G	C	9770492	2	2	170	1	0	0	0	0	0	0	0	1	17601	1103	39	3		3	YWHAQ	2	9770492	Silent	SNP	G	TCGA-CR-5243-01A-01D-1512-08		9770492	233428881	8	30085											
REG1B	5968	broad.mit.edu	37	chr2	79313560	79313560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactctccttaatcagtgagGccacgaaggcaccctccgcc	9	8	8	16	2	2	1	1	1	1	0	4	2	3	1	5	2	1	1	5	2	3	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:79313560G>T	ENST00000305089.3	-	4	334	c.254C>A	c.(253-255)gCc>gAc	p.A85D		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	85	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AATCAGTGAGGCCACGAAGGC	0.502													56	66					2.5401e-28	3.00664e-28	1	0	T	79313560	G	T	79313560	3	4	170	1	0	0	0	0	1	0	0	0	13293	1203	42	4	258	4	REG1B	2	79313560	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08	69543068	79313560	163885813	9	30086											
ACTR1B	10120	broad.mit.edu	37	chr2	98274472	98274472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtccggcgcaggtccatgtCggacttgtgtatggcgaagg	6	9	16	10	5	0	0	0	0	0	0	3	2	2	1	2	5	0	2	2	5	2	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:98274472C>T	ENST00000289228.5	-	8	1075	c.859G>A	c.(859-861)Gac>Aac	p.D287N		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	287						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						AGGTCCATGTCGGACTTGTGT	0.607													5	128					0	0	0	0	T	98274472	C	T	98274472	3	4	170	1	0	0	0	0	1	0	0	0	210	884	31	1	287	1	ACTR1B	2	98274472	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	18960912	98274472	144924901	10	30087											
HS6ST1	9394	broad.mit.edu	37	chr2	129026403	129026403	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgccactcgctcaggtagCgggacacggggtctcgtagc	6	6	15	14	5	2	0	1	0	1	0	4	1	2	1	2	4	2	3	2	4	2	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:129026403C>G	ENST00000259241.6	-	2	582	c.569G>C	c.(568-570)cGc>cCc	p.R190P		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	190	3'-phosphate binding (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GCTCAGGTAGCGGGACACGGG	0.642													19	53					0	0	0	0	G	129026403	C	G	129026403	3	3	170	1	0	0	0	0	1	0	0	0	7420	768	27	3	670	3	HS6ST1	2	129026403	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	30751931	129026403	114172970	11	30088											
GMPPA	29926	broad.mit.edu	37	chr2	220368880	220368880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatctacctcttttctcctGaagccttgaagcctcttcgg	6	14	7	14	1	4	2	0	2	4	0	6	2	4	2	4	1	3	1	4	1	3	5			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:220368880G>A	ENST00000358215.3	+	7	934	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	GMPPA_ENST00000341142.3_Missense_Mutation_p.E189K|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.E189K|GMPPA_ENST00000373908.1_Missense_Mutation_p.E189K|GMPPA_ENST00000373917.3_Missense_Mutation_p.E189K	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	189					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CTTTTCTCCTGAAGCCTTGAA	0.527													5	128					0	0	0	0	A	220368880	G	A	220368880	3	1	170	1	0	0	0	0	1	0	0	0	6545	1291	45	2	587	2	GMPPA	2	220368880	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08	91342477	220368880	22830493	12	30089											
SP100	6672	broad.mit.edu	37	chr2	231334791	231334791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcttcaggaaacctgcagCtcatccctaagaagagggtc	12	7	11	11	0	2	2	2	0	0	2	4	4	3	3	2	2	4	3	2	2	3	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:231334791C>A	ENST00000264052.5	+	15	1762	c.1407C>A	c.(1405-1407)agC>agA	p.S469R	SP100_ENST00000409112.1_Missense_Mutation_p.S469R|SP100_ENST00000427101.2_Missense_Mutation_p.S441R|SP100_ENST00000409341.1_Missense_Mutation_p.S469R|SP100_ENST00000340126.4_Missense_Mutation_p.S469R|SP100_ENST00000409897.1_Missense_Mutation_p.S434R|SP100_ENST00000409824.1_Missense_Mutation_p.S444R	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	469					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAACCTGCAGCTCATCCCTAA	0.428													3	27					1	1	1	0	A	231334791	C	A	231334791	3	1	170	1	0	0	0	0	1	0	0	0	15048	796	28	4	1465	4	SP100	2	231334791	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	10965911	231334791	11864582	13	30090											
HTR2B	3357	broad.mit.edu	37	chr2	231973477	231973477	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttttactgactttgtggcCcggtaattgcaggtgatata	8	16	11	6	1	0	2	0	2	0	0	0	2	0	2	1	3	2	3	1	3	4	8			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:231973477C>A	ENST00000258400.3	-	4	1712	c.1200G>T	c.(1198-1200)cgG>cgT	p.R400R	PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	400					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	ACTTTGTGGCCCGGTAATTGC	0.428													4	147					0.00909568	0.00959181	1	0	A	231973477	C	A	231973477	2	1	170	1	0	0	0	0	0	0	0	1	7495	610	22	4		4	HTR2B	2	231973477	Silent	SNP	C	TCGA-CR-5243-01A-01D-1512-08	638686	231973477	11225896	14	30091											
FGD5	152273	broad.mit.edu	37	chr3	14960293	14960293	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgatggagaaagtgccctaCgctctaaagattgagacttc	12	10	11	8	1	1	4	0	2	1	3	2	6	1	4	1	1	2	1	1	1	4	4			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr3:14960293C>A	ENST00000285046.5	+	13	3632	c.3522C>A	c.(3520-3522)taC>taA	p.Y1174*	FGD5_ENST00000543601.1_Nonsense_Mutation_p.Y933*|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1174	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AAGTGCCCTACGCTCTAAAGA	0.602													19	9					3.5997e-14	4.05403e-14	1	0	A	14960293	C	A	14960293	4	1	170	1	0	0	0	0	0	1	0	0	5881	547	19	3	3572	3	FGD5	3	14960293	Nonsense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08		14960293	183062137	15	30092											
KIAA1524	57650	broad.mit.edu	37	chr3	108285471	108285471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatgcatttttagtgtatCatctccacagagaggttaag	13	14	8	6	0	2	1	1	0	1	1	3	2	2	1	1	1	1	3	1	1	5	6			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr3:108285471C>A	ENST00000295746.8	-	11	1364	c.1288G>T	c.(1288-1290)Gat>Tat	p.D430Y	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.D271Y	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	430						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTAGTGTATCATCTCCACAG	0.303													4	172					0.00909568	0.00959181	1	0	A	108285471	C	A	108285471	3	1	170	1	0	0	0	0	1	0	0	0	8290	826	29	2	1473	2	KIAA1524	3	108285471	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	93325178	108285471	89736959	16	30093											
GK5	256356	broad.mit.edu	37	chr3	141884548	141884548	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatattcttgacatttcttCtgtggcttgaaaaccacttc	9	17	5	10	0	4	2	1	2	3	0	5	2	4	2	1	1	1	1	1	1	3	7			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr3:141884548C>A	ENST00000392993.2	-	16	1657	c.1506G>T	c.(1504-1506)caG>caT	p.Q502H		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	502					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						GACATTTCTTCTGTGGCTTGA	0.353													87	209					9.1841e-55	1.0983e-54	1	0	A	141884548	C	A	141884548	3	1	170	1	0	0	0	0	1	0	0	0	6473	912	32	2	87	2	GK5	3	141884548	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	33599077	141884548	56137882	17	30094											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			41	85					0	0	0	0	A	178936082	G	A	178936082	3	1	170	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08	37051534	178936082	19086348	18	30095											
EIF2B5	8893	broad.mit.edu	37	chr3	183855991	183855991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagtgatggagtggaggttcGatatgatttactggattgtc	9	15	14	3	1	0	2	0	2	0	0	2	6	0	5	0	4	1	1	0	4	3	6			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr3:183855991G>A	ENST00000273783.3	+	5	844	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	EIF2B5_ENST00000444495.1_Missense_Mutation_p.R241Q	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	241					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTGGAGGTTCGATATGATTTA	0.483													46	117					0	0	0	0	A	183855991	G	A	183855991	3	1	170	1	0	0	0	0	1	0	0	0	5040	1058	37	1	740	1	EIF2B5	3	183855991	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08	4919909	183855991	14166439	19	30096											
IL1RAP	3556	broad.mit.edu	37	chr3	190366168	190366168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcattcagaaaagcagaCgcctcctggttgttctaagc	10	11	9	11	1	3	2	2	0	1	2	4	2	4	2	2	1	2	4	2	1	3	5			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr3:190366168C>T	ENST00000412504.2	+	11	1639	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R463C|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R463C|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R463C			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	463	TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GAAAAGCAGACGCCTCCTGGT	0.502													120	343					0	0	0	0	T	190366168	C	T	190366168	3	4	170	1	0	0	0	0	1	0	0	0	7713	536	19	1	1445	1	IL1RAP	3	190366168	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	6510177	190366168	7656262	20	30097											
HRASLS	57110	broad.mit.edu	37	chr3	192980878	192980878	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acagaataaacaataaatacGatgaaacgtacccccctctc	18	7	4	12	2	1	2	0	1	1	1	2	3	1	2	3	0	4	1	3	0	9	4			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr3:192980878G>C	ENST00000264735.2	+	3	668	c.574G>C	c.(574-576)Gat>Cat	p.D192H	HRASLS_ENST00000602513.1_Missense_Mutation_p.D87H	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	87								p.D87Y(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|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;0.000159)		CAATAAATACGATGAAACGTA	0.433													78	203					0	0	0	0	C	192980878	G	C	192980878	3	2	170	1	0	0	0	0	1	0	0	0	7399	1058	37	3	265	3	HRASLS	3	192980878	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08	2614710	192980878	5041552	21	30098											
EVC2	132884	broad.mit.edu	37	chr4	5664846	5664846	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttactcttctaaggctTgaagcatgctcccagggtcc	8	13	8	12	0	3	1	0	1	3	0	5	1	5	1	2	2	3	3	2	2	3	5			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr4:5664846T>G	ENST00000310917.2	-	9	1624	c.893A>C	c.(892-894)cAa>cCa	p.Q298P	EVC2_ENST00000344938.1_Missense_Mutation_p.Q378P|EVC2_ENST00000344408.5_Missense_Mutation_p.Q378P	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	378						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTCTAAGGCTTGAAGCATGCT	0.433													37	133					0	0	0	0	G	5664846	T	G	5664846	3	3	170	1	0	0	0	0	1	0	0	0	5324	1812	63	5	2849	5	EVC2	4	5664846	Missense_Mutation	SNP	T	TCGA-CR-5243-01A-01D-1512-08		5664846	185489430	22	30099											
CD38	952	broad.mit.edu	37	chr4	15818249	15818249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagttgggaactcagaccGtaccttgcaacaaggtaatt	13	10	10	8	1	1	2	1	1	0	1	1	3	1	3	2	2	4	4	2	2	6	5			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr4:15818249G>A	ENST00000226279.2	+	2	486	c.349G>A	c.(349-351)Gta>Ata	p.V117I		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	117					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	p.V117I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						AACTCAGACCGTACCTTGCAA	0.378													4	152					0	0	0	0	A	15818249	G	A	15818249	3	1	170	1	0	0	0	0	1	0	0	0	3038	1145	40	1	355	1	CD38	4	15818249	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08	10153403	15818249	175336027	23	30100											
PTPN13	5783	broad.mit.edu	37	chr4	87653773	87653773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggaagaatgaggataaccGaaggaaagtaaacataatgc	20	5	12	4	1	0	2	0	1	0	1	0	6	0	5	1	3	3	1	1	3	8	3			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr4:87653773G>A	ENST00000436978.1	+	12	2192	c.1712G>A	c.(1711-1713)cGa>cAa	p.R571Q	PTPN13_ENST00000427191.2_Missense_Mutation_p.R571Q|PTPN13_ENST00000316707.6_Missense_Mutation_p.R571Q|PTPN13_ENST00000411767.2_Missense_Mutation_p.R571Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.R571Q	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	571						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAGGATAACCGAAGGAAAGTA	0.328													30	68					0	0	0	0	A	87653773	G	A	87653773	3	1	170	1	0	0	0	0	1	0	0	0	12862	1058	37	1	1754	1	PTPN13	4	87653773	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08	71835524	87653773	103500503	24	30101											
PKD2	5311	broad.mit.edu	37	chr4	88973183	88973183	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattaacatatacagaacatCaaatgtggaggtgctactac	17	10	7	7	0	1	1	1	0	0	1	1	2	1	2	0	2	6	1	0	2	8	5			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr4:88973183C>G	ENST00000237596.2	+	7	1655	c.1589C>G	c.(1588-1590)tCa>tGa	p.S530*	PKD2_ENST00000508588.1_5'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	530						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TACAGAACATCAAATGTGGAG	0.333													18	80					0	0	0	0	G	88973183	C	G	88973183	4	3	170	1	0	0	0	0	0	1	0	0	12038	838	29	2	1615	2	PKD2	4	88973183	Nonsense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	1319410	88973183	102181093	25	30102											
ASB5	140458	broad.mit.edu	37	chr4	177142616	177142616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttacctttactggcggcctCatgcgttggggatggaagac	7	11	14	9	2	1	1	1	0	0	1	1	3	1	3	2	5	3	2	2	5	3	4			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr4:177142616C>T	ENST00000296525.3	-	4	633	c.520G>A	c.(520-522)Gag>Aag	p.E174K	ASB5_ENST00000512254.1_Missense_Mutation_p.E121K	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	174					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CTGGCGGCCTCATGCGTTGGG	0.488													68	106					0	0	0	0	T	177142616	C	T	177142616	3	4	170	1	0	0	0	0	1	0	0	0	1030	835	29	2	485	2	ASB5	4	177142616	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	88169433	177142616	14011660	26	30103											
DNAH5	1767	broad.mit.edu	37	chr5	13871017	13871017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaataagcataaaaatGttttccatctcactccggta	13	14	4	10	1	3	0	2	0	2	0	6	0	5	0	2	1	1	3	2	1	6	6			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr5:13871017G>A	ENST00000265104.4	-	24	3797	c.3693C>T	c.(3691-3693)aaC>aaT	p.N1231N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1231	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATAAAAATGTTTTCCATCT	0.408									Kartagener syndrome				37	191					0	0	0	0	A	13871017	G	A	13871017	2	1	170	1	0	0	0	0	0	0	0	1	4641	1368	48	4		4	DNAH5	5	13871017	Silent	SNP	G	TCGA-CR-5243-01A-01D-1512-08		13871017	167044243	27	30104											
FNIP1	96459	broad.mit.edu	37	chr5	130987626	130987626	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggctactggccacttgaaCagtccatttatccatgtcag	9	12	8	12	0	1	1	1	1	0	0	3	1	3	1	3	2	2	1	3	2	3	4			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr5:130987626C>G	ENST00000307968.7	-	15	3090	c.3091G>C	c.(3091-3093)Gtt>Ctt	p.V1031L	FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.V1014L|FNIP1_ENST00000510461.1_Missense_Mutation_p.V1059L	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GCCACTTGAACAGTCCATTTA	0.383													30	67					0	0	0	0	G	130987626	C	G	130987626	3	3	170	1	0	0	0	0	1	0	0	0	6020	478	17	4	337	4	FNIP1	5	130987626	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	117116609	130987626	49927634	28	30105											
SLC22A5	6584	broad.mit.edu	37	chr5	131721136	131721136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacttcatccgagactggCggatgctgctggtggcgctg	5	11	14	11	3	1	1	1	0	0	1	2	3	2	2	1	4	3	3	1	4	1	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr5:131721136C>T	ENST00000245407.3	+	4	990	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	SLC22A5_ENST00000435065.2_Missense_Mutation_p.R281W	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	257			R -> W (in CDSP).		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CCGAGACTGGCGGATGCTGCT	0.522											OREG0016766	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	87					0	0	0	0	T	131721136	C	T	131721136	3	4	170	1	0	0	0	0	1	0	0	0	14545	759	27	1	783	1	SLC22A5	5	131721136	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	733510	131721136	49194124	29	30106											
FSTL4	23105	broad.mit.edu	37	chr5	132736645	132736645	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcagaacttcttcccgCaggaggccagcagctcgttg	7	8	13	13	2	1	1	0	0	1	1	3	2	2	2	2	3	4	6	2	3	1	3			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr5:132736645C>A	ENST00000265342.7	-	4	443	c.194G>T	c.(193-195)tGc>tTc	p.C65F		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	65						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTCTTCCCGCAGGAGGCCAG	0.627													12	26					3.27435e-08	3.58325e-08	1	0	A	132736645	C	A	132736645	3	1	170	1	0	0	0	0	1	0	0	0	6127	710	25	4	2386	4	FSTL4	5	132736645	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	1015509	132736645	48178615	30	30107											
TTC1	7265	broad.mit.edu	37	chr5	159437650	159437650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcctgatcccaaaaatCagcattcccagagtaagctg	13	9	7	12	0	1	2	1	1	0	1	4	2	4	2	3	0	2	4	3	0	3	3			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr5:159437650C>A	ENST00000231238.5	+	2	225	c.115C>A	c.(115-117)Cag>Aag	p.Q39K	TTC1_ENST00000522793.1_Missense_Mutation_p.Q39K	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	39					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TCCCAAAAATCAGCATTCCCA	0.507													3	46					1	1	1	0	A	159437650	C	A	159437650	3	1	170	1	0	0	0	0	1	0	0	0	16774	827	29	2	117	2	TTC1	5	159437650	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	26701005	159437650	21477610	31	30108											
DOCK2	1794	broad.mit.edu	37	chr5	169508958	169508958	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacaagaagacactcacacgGaagaaggtcaatcagttctt	16	7	9	9	1	4	3	3	0	1	3	4	5	4	4	0	2	0	1	0	2	5	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr5:169508958G>A	ENST00000256935.8	+	51	5480	c.5400G>A	c.(5398-5400)cgG>cgA	p.R1800R	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.R1292R|DOCK2_ENST00000540750.1_Silent_p.R861R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1800					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACTCACACGGAAGAAGGTCA	0.527													31	49					0	0	0	0	A	169508958	G	A	169508958	2	1	170	1	0	0	0	0	0	0	0	1	4723	1161	41	2		2	DOCK2	5	169508958	Silent	SNP	G	TCGA-CR-5243-01A-01D-1512-08	10071308	169508958	11406302	32	30109											
HIST1H4C	8364	broad.mit.edu	37	chr6	26104203	26104203	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcggcaaaggcggaaaaGgcttggggaagggtggtgct	9	6	20	6	3	0	0	0	0	0	0	1	2	0	2	0	8	1	3	0	8	4	1			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr6:26104203G>C	ENST00000377803.2	+	1	100	c.28G>C	c.(28-30)Ggc>Cgc	p.G10R		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	10					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AGGCGGAAAAGGCTTGGGGAA	0.527													33	67					0	0	0	0	C	26104203	G	C	26104203	3	2	170	1	0	0	0	0	1	0	0	0	7217	1000	35	4	30	4	HIST1H4C	6	26104203	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08		26104203	145010864	33	30110											
SLC29A4	222962	broad.mit.edu	37	chr7	5338650	5338650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggccctggcccccaacgAgtccccaaaggacagcccag	9	2	10	20	2	0	0	0	0	0	0	1	2	1	1	7	3	2	0	7	3	2	0			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr7:5338650A>G	ENST00000396872.2	+	8	1075	c.914A>G	c.(913-915)gAg>gGg	p.E305G	SLC29A4_ENST00000406453.3_Missense_Mutation_p.E291G|SLC29A4_ENST00000297195.4_Missense_Mutation_p.E305G	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	305					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCCCCAACGAGTCCCCAAAG	0.692													4	45					0	0	0	0	G	5338650	A	G	5338650	3	3	170	1	0	0	0	0	1	0	0	0	14625	304	11	5	940	5	SLC29A4	7	5338650	Missense_Mutation	SNP	A	TCGA-CR-5243-01A-01D-1512-08		5338650	153800013	34	30111											
GLI3	2737	broad.mit.edu	37	chr7	42005532	42005532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggccgcgtgtaattctGaagcacgagactgcgcttct	7	10	12	12	5	2	2	0	1	2	1	3	3	2	2	1	1	2	3	1	1	2	3			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr7:42005532G>T	ENST00000395925.3	-	15	3223	c.3139C>A	c.(3139-3141)Cag>Aag	p.Q1047K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1047					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTGTAATTCTGAAGCACGAGA	0.672									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				16	22					1.15088e-07	1.24768e-07	1	0	T	42005532	G	T	42005532	3	4	170	1	0	0	0	0	1	0	0	0	6490	1299	45	2	1607	2	GLI3	7	42005532	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08	36666882	42005532	117133131	35	30112											
CLDN15	24146	broad.mit.edu	37	chr7	100877667	100877667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatgcctagcaagaggcCgaggaagcccaggaggatgg	11	4	16	10	2	0	1	0	0	0	1	0	5	0	4	3	5	3	2	3	5	4	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr7:100877667C>T	ENST00000401528.1	-	3	1399	c.274G>A	c.(274-276)Ggc>Agc	p.G92S	CLDN15_ENST00000308344.5_Missense_Mutation_p.G92S|CLDN15_ENST00000433422.1_5'UTR	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	92					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					AGCAAGAGGCCGAGGAAGCCC	0.647													27	71					0	0	0	0	T	100877667	C	T	100877667	3	4	170	1	0	0	0	0	1	0	0	0	3506	652	23	1	428	1	CLDN15	7	100877667	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	58872135	100877667	58260996	36	30113											
OR2F1	26211	broad.mit.edu	37	chr7	143657530	143657530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcagtggcttcatcagctCtcctgtgcagactgctatca	7	12	10	12	0	5	1	4	0	1	1	6	1	5	1	1	2	3	4	1	2	1	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr7:143657530C>G	ENST00000392899.1	+	1	504	c.467C>G	c.(466-468)tCt>tGt	p.S156C		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTCATCAGCTCTCCTGTGCAG	0.522													38	68					0	0	0	0	G	143657530	C	G	143657530	3	3	170	1	0	0	0	0	1	0	0	0	11067	913	32	2	469	2	OR2F1	7	143657530	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	42779863	143657530	15481133	37	30114											
OR2A7	401427	broad.mit.edu	37	chr7	143956023	143956023	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtgcagaaggctttcctCtgaacttcccttgattggat	8	13	10	10	0	1	3	0	2	1	1	3	4	3	4	2	3	2	2	2	3	2	4			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr7:143956023C>T	ENST00000493325.1	-	1	792	c.699G>A	c.(697-699)caG>caA	p.Q233Q	RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					AGGCTTTCCTCTGAACTTCCC	0.483													47	268					0	0	0	0	T	143956023	C	T	143956023	2	4	170	1	0	0	0	0	0	0	0	1	11053	912	32	2		2	OR2A7	7	143956023	Silent	SNP	C	TCGA-CR-5243-01A-01D-1512-08	298493	143956023	15182640	38	30115											
FAM120A	23196	broad.mit.edu	37	chr9	96291641	96291641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcactgtaggcagaaGgctcgtccactgcctcttca	7	11	9	14	1	3	1	1	0	2	1	6	1	4	1	2	2	2	4	2	2	2	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr9:96291641G>A	ENST00000277165.6	+	9	1707	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S	FAM120A_ENST00000340893.4_Missense_Mutation_p.G505S|FAM120A_ENST00000333936.5_Missense_Mutation_p.G533S|FAM120A_ENST00000375389.3_Missense_Mutation_p.G505S	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	505						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTAGGCAGAAGGCTCGTCCAC	0.537													33	37					0	0	0	0	A	96291641	G	A	96291641	3	1	170	1	0	0	0	0	1	0	0	0	5456	1000	35	4	1547	4	FAM120A	9	96291641	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08		96291641	44921790	39	30116											
NOTCH1	4851	broad.mit.edu	37	chr9	139402754	139402754	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggccggtccagccgctgggGcactcgcagcggtactgggt	5	6	17	13	4	0	0	0	0	0	0	2	0	1	0	3	6	3	4	3	6	1	1			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr9:139402754G>C	ENST00000277541.6	-	20	3330	c.3255C>G	c.(3253-3255)tgC>tgG	p.C1085W		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1085	EGF-like 28.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGCCGCTGGGGCACTCGCAGC	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			36	65					0	0	0	0	C	139402754	G	C	139402754	3	2	170	1	0	0	0	0	1	0	0	0	10617	1195	42	4	4472	4	NOTCH1	9	139402754	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08	43111113	139402754	1810677	40	30117											
ARID5B	84159	broad.mit.edu	37	chr10	63852287	63852287	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggatttggaccttgTgattgcagggaaaaaggccc	10	9	14	8	0	0	1	0	1	0	0	0	5	0	5	3	5	1	1	3	5	2	3			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr10:63852287T>C	ENST00000279873.7	+	10	3475	c.3065T>C	c.(3064-3066)gTg>gCg	p.V1022A	ARID5B_ENST00000309334.5_Missense_Mutation_p.V779A	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1022					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TTGGACCTTGTGATTGCAGGG	0.587													72	113					0	0	0	0	C	63852287	T	C	63852287	3	2	170	1	0	0	0	0	1	0	0	0	924	1696	59	5	3103	5	ARID5B	10	63852287	Missense_Mutation	SNP	T	TCGA-CR-5243-01A-01D-1512-08		63852287	71682460	41	30118											
BTAF1	9044	broad.mit.edu	37	chr10	93719841	93719841	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatgtgctgctaaaattacTtacacaagaacaatgggaag	16	9	10	6	0	0	1	0	0	0	1	0	3	0	3	0	2	5	2	0	2	8	3			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr10:93719841T>G	ENST00000265990.6	+	11	1501	c.1193T>G	c.(1192-1194)cTt>cGt	p.L398R	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	398					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTAAAATTACTTACACAAGAA	0.393													61	111					0	0	0	0	G	93719841	T	G	93719841	3	3	170	1	0	0	0	0	1	0	0	0	1544	1609	56	5	1235	5	BTAF1	10	93719841	Missense_Mutation	SNP	T	TCGA-CR-5243-01A-01D-1512-08	29867554	93719841	41814906	42	30119											
LDB1	8861	broad.mit.edu	37	chr10	103867955	103867955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcaggggagttgttaaaGctgtcctcgtcgtcaatgcc	8	11	13	9	2	1	0	1	0	0	0	4	1	2	1	2	2	3	4	2	2	3	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr10:103867955G>A	ENST00000361198.5	-	11	1646	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	LDB1_ENST00000425280.1_Silent_p.S377S	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	377	LIM-binding domain (LID) (By similarity).				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		AGTTGTTAAAGCTGTCCTCGT	0.622													71	117					0	0	0	0	A	103867955	G	A	103867955	2	1	170	1	0	0	0	0	0	0	0	1	8748	962	34	4		4	LDB1	10	103867955	Silent	SNP	G	TCGA-CR-5243-01A-01D-1512-08	10148114	103867955	31666792	43	30120											
SLC6A5	9152	broad.mit.edu	37	chr11	20622730	20622730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaacagcccggaggcggCggcggcgcagggccacccgg	7	0	18	16	6	0	0	0	0	0	0	0	1	0	1	4	7	3	1	4	7	1	0			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr11:20622730C>T	ENST00000525748.1	+	2	332	c.59C>T	c.(58-60)gCg>gTg	p.A20V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	20					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCGGAGGCGGCGGCGGCGCAG	0.652													8	7					0	0	0	0	T	20622730	C	T	20622730	3	4	170	1	0	0	0	0	1	0	0	0	14775	768	27	1	65	1	SLC6A5	11	20622730	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08		20622730	114383786	44	30121											
CD163	9332	broad.mit.edu	37	chr12	7639365	7639365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatagatctctactctccCagcacagcgacctcctccat	10	10	5	16	1	2	2	0	1	2	1	6	3	4	2	4	0	3	1	4	0	2	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr12:7639365C>A	ENST00000359156.4	-	10	2390	c.2188G>T	c.(2188-2190)Ggg>Tgg	p.G730W	CD163_ENST00000396620.3_Missense_Mutation_p.G763W|CD163_ENST00000432237.2_Missense_Mutation_p.G730W|CD163_ENST00000541972.1_Missense_Mutation_p.G718W	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	730	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCTACTCTCCCAGCACAGCGA	0.483													9	205					0.00448238	0.00481441	1	0	A	7639365	C	A	7639365	3	1	170	1	0	0	0	0	1	0	0	0	2996	594	21	4	1310	4	CD163	12	7639365	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08		7639365	126212530	45	30122											
DIP2B	57609	broad.mit.edu	37	chr12	51072578	51072578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgaatctgccctgcagCgctggggtaccactcaagca	8	9	10	14	1	3	1	1	1	2	0	3	1	3	1	2	2	5	4	2	2	3	2	rs145274091		TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr12:51072578C>T	ENST00000301180.5	+	8	1067	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	345						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGCCCTGCAGCGCTGGGGTAC	0.532													36	64					0	0	0	0	T	51072578	C	T	51072578	3	4	170	1	0	0	0	0	1	0	0	0	4565	768	27	1	1063	1	DIP2B	12	51072578	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	43433213	51072578	82779317	46	30123											
ACVRL1	94	broad.mit.edu	37	chr12	52307464	52307464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcctgtggcatgtccgacgGaggcaggagaagcagcgtgg	8	5	19	9	3	0	1	0	0	0	1	1	4	1	2	2	6	2	3	2	6	1	0			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr12:52307464G>A	ENST00000550683.1	+	3	578	c.477G>A	c.(475-477)cgG>cgA	p.R159R	ACVRL1_ENST00000419526.2_Intron|ACVRL1_ENST00000388922.4_Silent_p.R145R	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	145					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ATGTCCGACGGAGGCAGGAGA	0.662													20	28					0	0	0	0	A	52307464	G	A	52307464	2	1	170	1	0	0	0	0	0	0	0	1	225	1161	41	2		2	ACVRL1	12	52307464	Silent	SNP	G	TCGA-CR-5243-01A-01D-1512-08	1234886	52307464	81544431	47	30124											
MAP3K12	7786	broad.mit.edu	37	chr12	53876860	53876860	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttgcggtgacgggtcttgCcacggcgactccgtcctggt	3	10	14	14	5	1	1	0	1	1	0	3	2	3	1	4	4	2	0	4	4	0	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr12:53876860C>A	ENST00000267079.2	-	12	1853	c.1628G>T	c.(1627-1629)gGc>gTc	p.G543V	MAP3K12_ENST00000547035.1_Missense_Mutation_p.G576V|MAP3K12_ENST00000547488.1_Missense_Mutation_p.G576V	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	543					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ACGGGTCTTGCCACGGCGACT	0.647													36	40					1.42033e-22	1.66423e-22	1	0	A	53876860	C	A	53876860	3	1	170	1	0	0	0	0	1	0	0	0	9315	739	26	4	967	4	MAP3K12	12	53876860	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	1569396	53876860	79975035	48	30125											
PARP4	143	broad.mit.edu	37	chr13	25068806	25068806	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttcttcaatgtaattttCaaagtattcacttgcatctt	11	18	4	8	0	5	0	3	0	2	0	5	0	5	0	0	0	1	4	0	0	4	9	rs145170390		TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr13:25068806C>G	ENST00000381989.3	-	7	751	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	216					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATGTAATTTTCAAAGTATTCA	0.338													43	17					0	0	0	0	G	25068806	C	G	25068806	3	3	170	1	0	0	0	0	1	0	0	0	11534	835	29	2	4640	2	PARP4	13	25068806	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08		25068806	90101072	49	30126											
SLITRK5	26050	broad.mit.edu	37	chr13	88328310	88328310	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctacgtggggctcttgcagCacatggataaagttgtggag	9	10	14	8	1	1	0	0	0	1	0	1	2	1	2	1	4	3	4	1	4	3	4			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr13:88328310C>G	ENST00000325089.6	+	2	886	c.667C>G	c.(667-669)Cac>Gac	p.H223D	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	223						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCTCTTGCAGCACATGGATAA	0.498													4	137					0	0	0	0	G	88328310	C	G	88328310	3	3	170	1	0	0	0	0	1	0	0	0	14834	710	25	4	669	4	SLITRK5	13	88328310	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	63259504	88328310	26841568	50	30127											
ATP11A	23250	broad.mit.edu	37	chr13	113530144	113530144	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatccagatgctgtccagCgggcccgcctggctggccat	5	9	12	15	2	1	1	1	0	0	1	3	1	3	1	5	3	2	2	5	3	0	1			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr13:113530144C>T	ENST00000487903.1	+	28	3304	c.3216C>T	c.(3214-3216)agC>agT	p.S1072S	ATP11A_ENST00000375645.3_Silent_p.S1072S|ATP11A_ENST00000283558.8_Silent_p.S1072S|ATP11A_ENST00000375630.2_Silent_p.S1072S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1072					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGCTGTCCAGCGGGCCCGCCT	0.612													69	23					0	0	0	0	T	113530144	C	T	113530144	2	4	170	1	0	0	0	0	0	0	0	1	1123	767	27	1		1	ATP11A	13	113530144	Silent	SNP	C	TCGA-CR-5243-01A-01D-1512-08	25201834	113530144	1639734	51	30128											
CLEC14A	161198	broad.mit.edu	37	chr14	38724510	38724510	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagggacacaacacatcgcCcgagagtttgtcccagcgag	11	5	12	13	3	0	1	0	0	0	1	2	4	1	2	2	1	2	2	2	1	1	1			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr14:38724510C>A	ENST00000342213.2	-	1	1064	c.718G>T	c.(718-720)Ggc>Tgc	p.G240C		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	240						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AACACATCGCCCGAGAGTTTG	0.622													21	338					6.44725e-10	7.19117e-10	1	0	A	38724510	C	A	38724510	3	1	170	1	0	0	0	0	1	0	0	0	3529	623	22	4	758	4	CLEC14A	14	38724510	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08		38724510	68625030	52	30129											
FSCB	84075	broad.mit.edu	37	chr14	44976120	44976120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgatgggtagctttggggCtagatgattttggtatggcc	7	14	15	5	1	0	2	0	1	0	1	0	3	0	2	1	5	2	4	1	5	4	7			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr14:44976120C>A	ENST00000340446.4	-	1	362	c.71G>T	c.(70-72)aGc>aTc	p.S24I		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	24						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCTTTGGGGCTAGATGATTT	0.423													145	202					2.99446e-77	3.6183e-77	1	0	A	44976120	C	A	44976120	3	1	170	1	0	0	0	0	1	0	0	0	6114	797	28	4	2410	4	FSCB	14	44976120	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	6251610	44976120	62373420	53	30130											
PELI2	57161	broad.mit.edu	37	chr14	56755238	56755238	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacacggacgaagcccagatCacacagagcaccatatccag	16	3	8	14	2	1	2	1	0	0	2	2	4	2	3	3	1	3	1	3	1	3	1			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr14:56755238C>T	ENST00000267460.4	+	4	679	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	131					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						AAGCCCAGATCACACAGAGCA	0.502													16	26					0	0	0	0	T	56755238	C	T	56755238	2	4	170	1	0	0	0	0	0	0	0	1	11793	816	29	2		2	PELI2	14	56755238	Silent	SNP	C	TCGA-CR-5243-01A-01D-1512-08	11779118	56755238	50594302	54	30131											
LGMN	5641	broad.mit.edu	37	chr14	93182496	93182496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attacctcttcaggactttgCcggatcctatgcccttcact	7	14	6	14	1	3	0	2	0	1	0	4	2	4	2	4	2	3	0	4	2	2	5			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr14:93182496C>T	ENST00000393218.2	-	6	726	c.389G>A	c.(388-390)gGc>gAc	p.G130D	LGMN_ENST00000555699.1_Missense_Mutation_p.G130D|LGMN_ENST00000334869.4_Missense_Mutation_p.G130D|LGMN_ENST00000557434.1_Missense_Mutation_p.G130D	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	130					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CAGGACTTTGCCGGATCCTAT	0.468													4	198					0	0	0	0	T	93182496	C	T	93182496	3	4	170	1	0	0	0	0	1	0	0	0	8809	739	26	4	952	4	LGMN	14	93182496	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	36427258	93182496	14167044	55	30132											
B2M	567	broad.mit.edu	37	chr15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-																															ccttagctgtgctcgcgctaCtctctctttctggcctggag																										TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr15:45003781_45003782delCT	ENST00000558401.1	+	1	107_108	c.37_38delCT	c.(37-39)cfs	p.L13fs	B2M_ENST00000559916.1_Frame_Shift_Del_p.L13fs|B2M_ENST00000544417.1_Frame_Shift_Del_p.L13fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	13					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.L15fs*41(4)|p.A11fs*42(1)|p.L13F(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTCGCGCTACTCTCTCTTTCT	0.614													31	26	---	---	---	---					-	45003782	CT	-	45003781	7	5	170	1	0	1	0	1	0	0	0	0	1248	565	20	0	39	0	B2M	15	45003781	Frame_Shift_Del	DEL	CT	TCGA-CR-5243-01A-01D-1512-08		45003781	57527611	56	30133											
MLST8	64223	broad.mit.edu	37	chr16	2258607	2258607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgggggactcccagtacatCgtcactggtgagccccgccc	6	7	12	16	3	1	1	1	1	0	0	4	2	2	2	4	3	2	1	4	3	1	1			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr16:2258607C>T	ENST00000569417.1	+	8	1209	c.855C>T	c.(853-855)atC>atT	p.I285I	MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000397124.1_Silent_p.I285I|MLST8_ENST00000564088.1_Silent_p.I285I|MLST8_ENST00000565250.1_Silent_p.I285I|MLST8_ENST00000382450.4_Silent_p.I284I|MLST8_ENST00000301724.10_Silent_p.I285I	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	285					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CCCAGTACATCGTCACTGGTG	0.711													46	70					0	0	0	0	T	2258607	C	T	2258607	2	4	170	1	0	0	0	0	0	0	0	1	9703	874	31	1		1	MLST8	16	2258607	Silent	SNP	C	TCGA-CR-5243-01A-01D-1512-08		2258607	88096146	57	30134											
RFWD3	55159	broad.mit.edu	37	chr16	74695298	74695298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggagctggctgttgttcgGcatgatttaactgcacctga	8	12	12	9	1	0	2	0	2	0	0	1	3	0	3	1	3	3	6	1	3	1	4			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr16:74695298G>A	ENST00000361070.4	-	2	147	c.50C>T	c.(49-51)gCc>gTc	p.A17V	RFWD3_ENST00000571750.1_Missense_Mutation_p.A17V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	17					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGTTGTTCGGCATGATTTAA	0.478													4	224					0	0	0	0	A	74695298	G	A	74695298	3	1	170	1	0	0	0	0	1	0	0	0	13343	1203	42	4	2322	4	RFWD3	16	74695298	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08	72436691	74695298	15659455	58	30135											
KDM6B	23135	broad.mit.edu	37	chr17	7751611	7751611	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgcctgcccgaggccctCgactctttgattttcccccc	4	11	8	18	2	1	1	0	1	1	0	3	3	2	1	6	1	3	1	6	1	0	3			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr17:7751611C>T	ENST00000254846.5	+	11	2394	c.2005C>T	c.(2005-2007)Cga>Tga	p.R669*	KDM6B_ENST00000448097.2_Nonsense_Mutation_p.R669*	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	669	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCGAGGCCCTCGACTCTTTGA	0.647													61	79					0	0	0	0	T	7751611	C	T	7751611	4	4	170	1	0	0	0	0	0	1	0	0	8190	876	31	1	2035	1	KDM6B	17	7751611	Nonsense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08		7751611	73443599	59	30136											
HNF1B	6928	broad.mit.edu	37	chr17	36091723	36091723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgcctcctccttcctgCggtttgcaaaccagttgtag	7	12	10	12	1	0	0	0	0	0	0	3	1	3	1	5	2	4	4	5	2	3	4			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr17:36091723C>T	ENST00000225893.4	-	4	1269	c.908G>A	c.(907-909)cGc>cAc	p.R303H	HNF1B_ENST00000560016.1_Missense_Mutation_p.R303H|HNF1B_ENST00000561193.1_Missense_Mutation_p.R277H|HNF1B_ENST00000427275.2_Missense_Mutation_p.R277H	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	303					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CTCCTTCCTGCGGTTTGCAAA	0.607													59	100					0	0	0	0	T	36091723	C	T	36091723	3	4	170	1	0	0	0	0	1	0	0	0	7302	768	27	1	789	1	HNF1B	17	36091723	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	28340112	36091723	45103487	60	30137											
GRN	2896	broad.mit.edu	37	chr17	42427094	42427094	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttccactgcagtgcagaCgggcgatcctgcttccaaag	8	8	12	13	2	0	1	0	0	0	1	3	2	3	1	3	2	3	4	3	2	1	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr17:42427094C>T	ENST00000053867.3	+	4	386	c.324C>T	c.(322-324)gaC>gaT	p.D108D	GRN_ENST00000589265.1_Silent_p.D108D	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	108					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCAGTGCAGACGGGCGATCCT	0.637													18	36					0	0	0	0	T	42427094	C	T	42427094	2	4	170	1	0	0	0	0	0	0	0	1	6854	535	19	1		1	GRN	17	42427094	Silent	SNP	C	TCGA-CR-5243-01A-01D-1512-08	6335371	42427094	38768116	61	30138											
ABCC3	8714	broad.mit.edu	37	chr17	48746781	48746781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggaaaacgtgcttttCggcaaagccctgaaccccaa	12	8	8	13	2	1	1	1	1	0	0	2	2	1	2	3	2	4	2	3	2	5	3			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr17:48746781C>A	ENST00000285238.8	+	17	2213	c.2133C>A	c.(2131-2133)ttC>ttA	p.F711L		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	711	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	ACGTGCTTTTCGGCAAAGCCC	0.582													4	137					1	1	1	0	A	48746781	C	A	48746781	3	1	170	1	0	0	0	0	1	0	0	0	54	883	31	3	2283	3	ABCC3	17	48746781	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	6319687	48746781	32448429	62	30139											
TIMP2	7077	broad.mit.edu	37	chr17	76851860	76851860	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaacttggcctggtgcccGttgatgttcttctctgtgac	6	14	11	10	1	2	3	0	2	2	1	3	3	2	3	2	2	2	2	2	2	2	4			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr17:76851860G>A	ENST00000262768.7	-	5	850	c.552C>T	c.(550-552)aaC>aaT	p.N184N	TIMP2_ENST00000586057.1_Silent_p.N107N|TIMP2_ENST00000536189.2_Silent_p.N107N|TIMP2_ENST00000585421.1_Silent_p.N107N|RP11-323N12.5_ENST00000587434.1_RNA	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	184							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CCTGGTGCCCGTTGATGTTCT	0.632													43	65					0	0	0	0	A	76851860	G	A	76851860	2	1	170	1	0	0	0	0	0	0	0	1	16012	1136	40	1		1	TIMP2	17	76851860	Silent	SNP	G	TCGA-CR-5243-01A-01D-1512-08	28105079	76851860	4343350	63	30140											
RALBP1	10928	broad.mit.edu	37	chr18	9535827	9535827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgggggtgccgtccagccGcccagagacggcgtccttga	5	5	16	15	6	0	2	0	1	0	1	2	3	2	2	5	3	2	0	5	3	0	1			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr18:9535827G>A	ENST00000019317.4	+	10	2083	c.1860G>A	c.(1858-1860)ccG>ccA	p.P620P	RALBP1_ENST00000383432.3_Silent_p.P620P			Q15311	RBP1_HUMAN	ralA binding protein 1	620					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						CCGTCCAGCCGCCCAGAGACG	0.667													6	11					0	0	0	0	A	9535827	G	A	9535827	2	1	170	1	0	0	0	0	0	0	0	1	13094	1074	38	1		1	RALBP1	18	9535827	Silent	SNP	G	TCGA-CR-5243-01A-01D-1512-08		9535827	68541421	64	30141											
ROCK1	6093	broad.mit.edu	37	chr18	18547018	18547018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgaagctcattcctatgtGcacattcttctaccaattgc	9	15	5	12	0	4	1	1	1	3	0	5	1	5	1	2	0	4	2	2	0	4	6			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr18:18547018G>A	ENST00000399799.1	-	27	4152	c.3212C>T	c.(3211-3213)gCa>gTa	p.A1071V		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1071					actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ATTCCTATGTGCACATTCTTC	0.333													63	96					0	0	0	0	A	18547018	G	A	18547018	3	1	170	1	0	0	0	0	1	0	0	0	13602	1319	46	4	880	4	ROCK1	18	18547018	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08	9011191	18547018	59530230	65	30142											
DNM2	1785	broad.mit.edu	37	chr19	10887831	10887831	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcatcaccaagcttgacctGatggacgagggcaccgacgc	10	6	12	13	3	2	2	2	2	0	0	2	5	2	3	3	2	1	2	3	2	1	1			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:10887831G>C	ENST00000314646.5	+	5	791	c.627G>C	c.(625-627)ctG>ctC	p.L209L	DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000355667.6_Silent_p.L209L|DNM2_ENST00000585892.1_Silent_p.L209L|DNM2_ENST00000408974.4_Silent_p.L209L|DNM2_ENST00000389253.4_Silent_p.L209L|DNM2_ENST00000359692.6_Silent_p.L209L			P50570	DYN2_HUMAN	dynamin 2	209					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGCTTGACCTGATGGACGAGG	0.597			"F, N, Splice, Mis, O"		ETP ALL								27	60					0	0	0	0	C	10887831	G	C	10887831	2	2	170	1	0	0	0	0	0	0	0	1	4708	1277	45	2		2	DNM2	19	10887831	Silent	SNP	G	TCGA-CR-5243-01A-01D-1512-08		10887831	48241152	66	30143											
ZNF433	163059	broad.mit.edu	37	chr19	12126251	12126251	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccataacccttacattcataCggcttctcttctctgtgcat	8	15	4	14	1	3	0	1	0	2	0	5	0	3	0	2	1	4	2	2	1	3	6			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:12126251C>T	ENST00000419886.2	-	5	1617	c.1326G>A	c.(1324-1326)ccG>ccA	p.P442P	CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000344980.6_Silent_p.P477P|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TACATTCATACGGCTTCTCTT	0.388													19	41					0	0	0	0	T	12126251	C	T	12126251	2	4	170	1	0	0	0	0	0	0	0	1	18002	523	19	1		1	ZNF433	19	12126251	Silent	SNP	C	TCGA-CR-5243-01A-01D-1512-08	1238420	12126251	47002732	67	30144											
ZNF90	7643	broad.mit.edu	37	chr19	20228642	20228642	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagagcagagcctaaaagaTtccttccaaaaagtgatagt	16	8	8	9	0	0	4	0	1	0	3	2	4	2	4	4	0	2	1	4	0	5	4			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:20228642T>C	ENST00000418063.2	+	4	391	c.279T>C	c.(277-279)gaT>gaC	p.D93D	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	93						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GCCTAAAAGATTCCTTCCAAA	0.343													5	24					0	0	0	0	C	20228642	T	C	20228642	2	2	170	1	0	0	0	0	0	0	0	1	18292	1490	52	5		5	ZNF90	19	20228642	Silent	SNP	T	TCGA-CR-5243-01A-01D-1512-08	8102391	20228642	38900341	68	30145											
MAG	4099	broad.mit.edu	37	chr19	35800939	35800939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagttcgtgtactcggagcGcagcggcctcgtgctcacca	6	8	14	13	5	1	0	1	0	0	0	4	2	1	2	2	3	4	4	2	3	1	2	rs147583558		TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:35800939G>A	ENST00000361922.4	+	8	1544	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	MAG_ENST00000537831.2_Missense_Mutation_p.R440H|MAG_ENST00000392213.3_Missense_Mutation_p.R465H|MAG_ENST00000593348.1_3'UTR	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	465	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TACTCGGAGCGCAGCGGCCTC	0.677													36	64					0	0	0	0	A	35800939	G	A	35800939	3	1	170	1	0	0	0	0	1	0	0	0	9227	1087	38	1	1416	1	MAG	19	35800939	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08	15572297	35800939	23328044	69	30146											
ZNF221	7638	broad.mit.edu	37	chr19	44470025	44470025	+	Frame_Shift_Del	DEL	A	A	-																															tgaagagtggtcctgtcagcAaatatgggaacaaattgcaa																										TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:44470025delA	ENST00000251269.5	+	6	699	c.371delA	c.(370-372)cafs	p.Q124fs	ZNF221_ENST00000587682.1_Frame_Shift_Del_p.Q124fs|ZNF221_ENST00000592350.1_Frame_Shift_Del_p.Q124fs	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				TCCTGTCAGCAAATATGGGAA	0.443													47	112	---	---	---	---					-	44470025	A	-	44470025	7	5	170	1	0	1	0	1	0	0	0	0	17870	130	5	0	385	0	ZNF221	19	44470025	Frame_Shift_Del	DEL	A	TCGA-CR-5243-01A-01D-1512-08	8669086	44470025	14658958	70	30147											
CPT1C	126129	broad.mit.edu	37	chr19	50216294	50216294	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatgatcaccttccacatCtccagcaaaaaatcaagcac	15	7	5	14	0	3	1	2	1	1	0	5	1	4	1	3	1	2	3	3	1	4	1			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:50216294C>G	ENST00000392518.4	+	19	2571	c.2199C>G	c.(2197-2199)atC>atG	p.I733M	CPT1C_ENST00000598293.1_Missense_Mutation_p.I733M|CPT1C_ENST00000405931.2_Missense_Mutation_p.I722M|CPT1C_ENST00000323446.5_Missense_Mutation_p.I733M|CPT1C_ENST00000354199.5_Missense_Mutation_p.I644M	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	733					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCTTCCACATCTCCAGCAAAA	0.493													121	214					0	0	0	0	G	50216294	C	G	50216294	3	3	170	1	0	0	0	0	1	0	0	0	3863	903	32	2	2265	2	CPT1C	19	50216294	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	5746269	50216294	8912689	71	30148											
MYH14	79784	broad.mit.edu	37	chr19	50720993	50720993	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccaccccacgtgtacgCagtgaccgagggggcctatc	7	6	14	14	3	0	1	0	1	0	0	1	2	0	1	5	3	2	2	5	3	2	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:50720993C>A	ENST00000440075.2	+	3	574	c.527C>A	c.(526-528)gCa>gAa	p.A176E	MYH14_ENST00000262269.8_Missense_Mutation_p.A176E|MYH14_ENST00000601313.1_Missense_Mutation_p.A176E|MYH14_ENST00000376970.2_Missense_Mutation_p.A176E|MYH14_ENST00000425460.1_Missense_Mutation_p.A176E|MYH14_ENST00000598205.1_Missense_Mutation_p.A176E|MYH14_ENST00000596571.1_Missense_Mutation_p.A176E			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	176	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CACGTGTACGCAGTGACCGAG	0.637													42	71					2.56175e-15	2.9422e-15	1	0	A	50720993	C	A	50720993	3	1	170	1	0	0	0	0	1	0	0	0	10103	710	25	4	533	4	MYH14	19	50720993	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	504699	50720993	8407990	72	30149											
ZNF845	91664	broad.mit.edu	37	chr19	53856710	53856710	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaccttccgtcacaatTcagtccttgtaattcataag	13	12	5	11	1	3	0	3	0	0	0	5	0	5	0	3	0	1	2	3	0	5	6			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:53856710T>G	ENST00000458035.1	+	4	2899	c.2782T>G	c.(2782-2784)Tca>Gca	p.S928A	ZNF845_ENST00000595091.1_Missense_Mutation_p.S928A	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CCGTCACAATTCAGTCCTTGT	0.373													14	21					0	0	0	0	G	53856710	T	G	53856710	3	3	170	1	0	0	0	0	1	0	0	0	18284	1783	62	5	2792	5	ZNF845	19	53856710	Missense_Mutation	SNP	T	TCGA-CR-5243-01A-01D-1512-08	3135717	53856710	5272273	73	30150											
ZNF761	388561	broad.mit.edu	37	chr19	53946133	53946133	+	RNA	DEL	A	A	-																															tctttaaaaatcatgttgtgAaaaaaaaaatacataatcac																								rs35108555		TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:53946133delA	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATGTTGTGAAAAAAAAAAT	0.348													8	3	---	---	---	---					-	53946133	A	-	53946133	6	5	170	0	1	1	0	1	0	0	0	0	18230	261	9	0		0	ZNF761	19	53946133	RNA	DEL	A	TCGA-CR-5243-01A-01D-1512-08	89423	53946133	5182850	74	30151											
ADAM33	80332	broad.mit.edu	37	chr20	3652265	3652265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtgcctggctctaccaggCccaggccaagcaggtccagc	7	5	14	15	0	1	0	0	0	1	0	2	0	2	0	5	5	4	2	5	5	2	1			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr20:3652265C>T	ENST00000356518.2	-	16	2109	c.1868G>A	c.(1867-1869)gGc>gAc	p.G623D	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Missense_Mutation_p.G623D|ADAM33_ENST00000379861.4_Missense_Mutation_p.G623D	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	623	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CTCTACCAGGCCCAGGCCAAG	0.632													3	29					0	0	0	0	T	3652265	C	T	3652265	3	4	170	1	0	0	0	0	1	0	0	0	250	739	26	4	601	4	ADAM33	20	3652265	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08		3652265	59373255	75	30152											
CDC25B	994	broad.mit.edu	37	chr20	3781917	3781917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtgtctcagtcctgaccGgaagatggaagtggaggagc	11	7	15	8	1	1	2	1	1	1	1	3	6	2	6	2	4	1	0	2	4	2	0			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr20:3781917G>A	ENST00000245960.5	+	8	1419	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	CDC25B_ENST00000379598.5_Missense_Mutation_p.R177Q|CDC25B_ENST00000340833.4_Missense_Mutation_p.R200Q|CDC25B_ENST00000439880.2_Missense_Mutation_p.R227Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.R177Q|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	241					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AGTCCTGACCGGAAGATGGAA	0.562													5	238					0	0	0	0	A	3781917	G	A	3781917	3	1	170	1	0	0	0	0	1	0	0	0	3092	1116	39	1	752	1	CDC25B	20	3781917	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08	129652	3781917	59243603	76	30153											
HAO1	54363	broad.mit.edu	37	chr20	7920988	7920988	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcatttgccccagaccTgtaatagtcatatatagact	12	14	5	10	0	3	2	3	0	0	2	3	2	3	2	3	0	1	1	3	0	5	7			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr20:7920988T>C	ENST00000378789.3	-	1	133	c.82A>G	c.(82-84)Agg>Ggg	p.R28G		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	28	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCCCCAGACCTGTAATAGTCA	0.313													3	186					0	0	0	0	C	7920988	T	C	7920988	3	2	170	1	0	0	0	0	1	0	0	0	7001	1579	55	5	1062	5	HAO1	20	7920988	Missense_Mutation	SNP	T	TCGA-CR-5243-01A-01D-1512-08	4139071	7920988	55104532	77	30154											
BCL2L1	598	broad.mit.edu	37	chr20	30310086	30310086	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcactcactgagtctcGtctctggttagtgattctct	5	16	8	12	1	5	2	2	2	3	0	8	2	5	2	0	1	1	2	0	1	1	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr20:30310086G>A	ENST00000307677.4	-	0	346				BCL2L1_ENST00000376055.4_De_novo_Start_InFrame|BCL2L1_ENST00000420653.1_De_novo_Start_InFrame|BCL2L1_ENST00000376062.2_De_novo_Start_InFrame	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1						induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			ACTGAGTCTCGTCTCTGGTTA	0.418													18	68					0	0	0	0	A	30310086	G	A	30310086	1	1	170	1	0	0	0	0	0	0	0	0	1371	1160	40	1		1	BCL2L1	20	30310086	Translation_Start_Site	SNP	G	TCGA-CR-5243-01A-01D-1512-08	22389098	30310086	32715434	78	30155											
PLAGL2	5326	broad.mit.edu	37	chr20	30784277	30784277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggaatgcttgatggaaaCgaggcagggtggtgctactc	10	9	15	7	1	0	1	0	1	0	0	1	4	0	3	0	5	4	3	0	5	3	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr20:30784277C>T	ENST00000246229.4	-	3	1733	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	490						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTGATGGAAACGAGGCAGGGT	0.577													20	142					0	0	0	0	T	30784277	C	T	30784277	3	4	170	1	0	0	0	0	1	0	0	0	12092	536	19	1	25	1	PLAGL2	20	30784277	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	474191	30784277	32241243	79	30156											
PRPF6	24148	broad.mit.edu	37	chr20	62660835	62660835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacccccatgtgctcctggCcgtggccaagtgagtggggc	5	8	15	13	1	0	2	0	2	0	0	1	2	1	2	5	4	1	1	5	4	1	0			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr20:62660835C>T	ENST00000535781.1	+	18	2528	c.2417C>T	c.(2416-2418)gCc>gTc	p.A806V	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	846					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GTGCTCCTGGCCGTGGCCAAG	0.587													4	187					0	0	0	0	T	62660835	C	T	62660835	3	4	170	1	0	0	0	0	1	0	0	0	12654	739	26	4	2611	4	PRPF6	20	62660835	Missense_Mutation	SNP	C	TCGA-CR-5243-01A-01D-1512-08	31876558	62660835	364685	80	30157											
TRIOBP	11078	broad.mit.edu	37	chr22	38154082	38154082	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcccctcactgccctgctCaaccaaagccgcggagagcg	8	5	11	17	3	2	1	2	0	0	1	2	2	2	1	5	1	6	1	5	1	2	0			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr22:38154082C>G	ENST00000406386.3	+	16	6405	c.6150C>G	c.(6148-6150)ctC>ctG	p.L2050L	TRIOBP_ENST00000403663.2_Silent_p.L337L|TRIOBP_ENST00000407319.2_Silent_p.L337L|RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2050					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					CTGCCCTGCTCAACCAAAGCC	0.642													10	16					0	0	0	0	G	38154082	C	G	38154082	2	3	170	1	0	0	0	0	0	0	0	1	16648	813	29	2		2	TRIOBP	22	38154082	Silent	SNP	C	TCGA-CR-5243-01A-01D-1512-08		38154082	13150484	81	30158											
NCAPH2	29781	broad.mit.edu	37	chr22	50961570	50961570	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccggccttcgaggtgtgtcGttccatgctggcctccctgc	2	11	13	15	3	0	0	0	0	0	0	4	1	2	0	5	3	2	2	5	3	0	2			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr22:50961570G>C	ENST00000395701.3	+	19	1746	c.1652G>C	c.(1651-1653)cGt>cCt	p.R551P	NCAPH2_ENST00000420993.2_Missense_Mutation_p.R551P|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R552P			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	551					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GAGGTGTGTCGTTCCATGCTG	0.647													10	14					0	0	0	0	C	50961570	G	C	50961570	3	2	170	1	0	0	0	0	1	0	0	0	10280	1145	40	3	1768	3	NCAPH2	22	50961570	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08	12807488	50961570	342996	82	30159											
PTCHD1	139411	broad.mit.edu	37	chrX	23411520	23411520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattttcacattttcaagagGacatcatcttctctaaaaaa	16	14	3	8	0	5	1	3	0	2	1	6	2	5	2	0	1	0	0	0	1	5	6			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chrX:23411520G>A	ENST00000379361.4	+	3	2745	c.1885G>A	c.(1885-1887)Gac>Aac	p.D629N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	629					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTTTCAAGAGGACATCATCTT	0.398													37	64					0	0	0	0	A	23411520	G	A	23411520	3	1	170	1	0	0	0	0	1	0	0	0	12811	1174	41	2	1895	2	PTCHD1	23	23411520	Missense_Mutation	SNP	G	TCGA-CR-5243-01A-01D-1512-08		23411520	131859040	83	30160											
CHD5	26038	broad.mit.edu	37	chr1	6202630	6202632	+	In_Frame_Del	DEL	GAT	GAT	-																															agtgtgccgcctgtggagtcGatgtaccatggctgcttgtc																										TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:6202630_6202632delGAT	ENST00000262450.3	-	14	2176_2178	c.2077_2079delATC	c.(2077-2079)del	p.I693del	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	693					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTGTGGAGTCGATGTACCATGGC	0.635													18	72	---	---	---	---					-	6202632	GAT	-	6202630	7	5	171	1	0	1	0	1	0	0	0	0	3357	1048	37	0	3897	0	CHD5	1	6202630	In_Frame_Del	DEL	GAT	TCGA-CR-5247-01A-01D-2012-08		6202630	243047991	1	30161											
HCRTR1	3061	broad.mit.edu	37	chr1	32089283	32089283	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaagacagccaagatgCtgatggtggtgctgctggtc	9	8	17	7	0	0	3	0	1	0	2	1	5	0	5	1	5	4	3	1	5	2	0			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:32089283C>T	ENST00000403528.2	+	7	1283	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	HCRTR1_ENST00000373706.5_Silent_p.L300L|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Silent_p.L300L	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	300					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		AGCCAAGATGCTGATGGTGGT	0.632													8	46					0	0	0	0	T	32089283	C	T	32089283	2	4	171	1	0	0	0	0	0	0	0	1	7051	796	28	4		4	HCRTR1	1	32089283	Silent	SNP	C	TCGA-CR-5247-01A-01D-2012-08	25886653	32089283	217161338	2	30162											
SPOCD1	90853	broad.mit.edu	37	chr1	32263807	32263824	+	Splice_Site	DEL	CCCTTTTCTCCTCCTGGT	CCCTTTTCTCCTCCTGGT	-																															ccgactgggctcagcactcaCccttttctcctcctggtccc																										TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:32263807_32263824delCCCTTTTCTCCTCCTGGT	ENST00000360482.2	-	9	2258_2275	c.2145_splice	c.e9+1	p.DQEEKRG710_splice	SPOCD1_ENST00000257100.3_Splice_Site_p.DQEEKRG203_splice|SPOCD1_ENST00000533231.1_Splice_Site_p.DQEEKRG710_splice|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	710	TFIIS central.				transcription, DNA-dependent			p.E713K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCAGCACTCACCCTTTTCTCCTCCTGGTCCCGCCAGCG	0.624													8	64	---	---	---	---					-	32263824	CCCTTTTCTCCTCCTGGT	-	32263807	8	5	171	1	0	1	0	1	0	0	1	0	15168	521	18	0	1536	0	SPOCD1	1	32263807	Splice_Site	DEL	CCCTTTTCTCCTCCTGGT	TCGA-CR-5247-01A-01D-2012-08	174524	32263807	216986814	3	30163											
DLGAP3	58512	broad.mit.edu	37	chr1	35365842	35365842	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctccccatccttgccaccGgtggggtaacccccccagtc	6	8	8	19	1	1	0	0	0	1	0	4	0	2	0	8	3	2	1	8	3	1	2	rs149715442		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:35365842G>A	ENST00000373347.1	-	4	1408	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	DLGAP3_ENST00000235180.4_Silent_p.T380T			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	380					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.T380T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCTTGCCACCGGTGGGGTAAC	0.612													34	122					0	0	0	0	A	35365842	G	A	35365842	2	1	171	1	0	0	0	0	0	0	0	1	4598	1103	39	1		1	DLGAP3	1	35365842	Silent	SNP	G	TCGA-CR-5247-01A-01D-2012-08	3102035	35365842	213884779	4	30164											
LRIG2	9860	broad.mit.edu	37	chr1	113661886	113661886	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccgggtgatttgctcagaTtgttatgacaatgccaacat	11	12	9	9	1	1	3	1	2	0	1	1	3	1	3	2	1	3	2	2	1	3	3			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:113661886T>G	ENST00000361127.4	+	17	2910	c.2712T>G	c.(2710-2712)gaT>gaG	p.D904E	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	904						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TTTGCTCAGATTGTTATGACA	0.413													23	80					0	0	0	0	G	113661886	T	G	113661886	3	3	171	1	0	0	0	0	1	0	0	0	9009	1490	52	5	2778	5	LRIG2	1	113661886	Missense_Mutation	SNP	T	TCGA-CR-5247-01A-01D-2012-08	78296044	113661886	135588735	5	30165											
SPTA1	6708	broad.mit.edu	37	chr1	158596754	158596754	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttttcattcagagcctctAtcttggaagaaatctctttg	9	17	6	9	0	6	2	2	0	4	2	7	3	6	3	1	1	1	0	1	1	3	6			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:158596754A>G	ENST00000368148.3	-	41	5888	c.5708T>C	c.(5707-5709)aTa>aCa	p.I1903T	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.I1900T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1903					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGAGCCTCTATCTTGGAAGA	0.428													29	97					0	0	0	0	G	158596754	A	G	158596754	3	3	171	1	0	0	0	0	1	0	0	0	15206	449	16	5	1599	5	SPTA1	1	158596754	Missense_Mutation	SNP	A	TCGA-CR-5247-01A-01D-2012-08	44934868	158596754	90653867	6	30166											
TNFSF4	7292	broad.mit.edu	37	chr1	173155865	173155865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctggtaatgaaggctaatGttgacttcctgggagaagta	11	13	12	5	0	1	3	0	2	1	1	2	4	2	3	1	3	0	4	1	3	5	6			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:173155865G>A	ENST00000281834.3	-	3	478	c.342C>T	c.(340-342)aaC>aaT	p.N114N	TNFSF4_ENST00000367718.1_Silent_p.N64N	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	114					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						GAAGGCTAATGTTGACTTCCT	0.468													13	48					0	0	0	0	A	173155865	G	A	173155865	2	1	171	1	0	0	0	0	0	0	0	1	16404	1368	48	4		4	TNFSF4	1	173155865	Silent	SNP	G	TCGA-CR-5247-01A-01D-2012-08	14559111	173155865	76094756	7	30167											
ASTN1	460	broad.mit.edu	37	chr1	176998825	176998825	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaaggtcagctgggggtcGttttctgcctctgtgccaga	7	12	13	9	1	3	1	1	0	2	1	4	1	3	1	2	3	3	2	2	3	2	3	rs61758728		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:176998825G>A	ENST00000367654.2	-	5	1078	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N	ASTN1_ENST00000424564.2_Silent_p.N355N|ASTN1_ENST00000361833.2_Silent_p.N355N|ASTN1_ENST00000367657.3_Silent_p.N355N|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	355					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						GCTGGGGGTCGTTTTCTGCCT	0.507													17	13					0	0	0	0	A	176998825	G	A	176998825	2	1	171	1	0	0	0	0	0	0	0	1	1068	1136	40	1		1	ASTN1	1	176998825	Silent	SNP	G	TCGA-CR-5247-01A-01D-2012-08	3842960	176998825	72251796	8	30168											
EPHX1	2052	broad.mit.edu	37	chr1	226027611	226027611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctcctgggacagcgtttCgggaggtttcttggcctcac	4	12	12	13	2	2	0	1	0	1	0	5	2	4	2	3	4	1	2	3	4	0	3			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:226027611C>T	ENST00000366837.4	+	6	1000	c.804C>T	c.(802-804)ttC>ttT	p.F268F	EPHX1_ENST00000272167.5_Silent_p.F268F	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	268					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GACAGCGTTTCGGGAGGTTTC	0.552													41	147					0	0	0	0	T	226027611	C	T	226027611	2	4	171	1	0	0	0	0	0	0	0	1	5217	883	31	1		1	EPHX1	1	226027611	Silent	SNP	C	TCGA-CR-5247-01A-01D-2012-08	49028786	226027611	23223010	9	30169											
FMN2	56776	broad.mit.edu	37	chr1	240601400	240601400	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttcttcatgaaaccaaaActtggagagaaggaggtgtc	14	11	10	6	0	2	2	1	1	1	1	3	5	2	4	1	3	2	0	1	3	5	4			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr1:240601400A>T	ENST00000319653.9	+	16	5180	c.4950A>T	c.(4948-4950)aaA>aaT	p.K1650N	FMN2_ENST00000545751.1_Missense_Mutation_p.K246N	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1650	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGAAACCAAAACTTGGAGAGA	0.383													8	77					0	0	0	0	T	240601400	A	T	240601400	3	4	171	1	0	0	0	0	1	0	0	0	5995	40	2	5	5012	5	FMN2	1	240601400	Missense_Mutation	SNP	A	TCGA-CR-5247-01A-01D-2012-08	14573789	240601400	8649221	10	30170											
DPYSL5	56896	broad.mit.edu	37	chr2	27121496	27121496	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtgggccgcgagctcatGatccctggcggggccaaggt	6	6	17	12	3	1	1	1	1	0	0	2	2	2	1	3	6	1	1	3	6	1	0			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:27121496G>C	ENST00000288699.6	+	2	287	c.129G>C	c.(127-129)atG>atC	p.M43I	DPYSL5_ENST00000401478.1_Missense_Mutation_p.M43I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	43					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGAGCTCATGATCCCTGGCG	0.577													11	90					0	0	0	0	C	27121496	G	C	27121496	3	2	171	1	0	0	0	0	1	0	0	0	4786	1290	45	2	131	2	DPYSL5	2	27121496	Missense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08		27121496	216077877	11	30171											
TSPYL6	388951	broad.mit.edu	37	chr2	54483229	54483229	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggacctctggccctggtgCgggtcttccagagcatagtc	5	9	14	13	2	2	1	0	0	2	1	4	2	3	2	3	4	2	1	3	4	1	2			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:54483229C>T	ENST00000317802.7	-	1	180	c.60G>A	c.(58-60)ccG>ccA	p.P20P	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	20					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GGCCCTGGTGCGGGTCTTCCA	0.622													28	124					0	0	0	0	T	54483229	C	T	54483229	2	4	171	1	0	0	0	0	0	0	0	1	16758	755	27	1		1	TSPYL6	2	54483229	Silent	SNP	C	TCGA-CR-5247-01A-01D-2012-08	27361733	54483229	188716144	12	30172											
REG3G	130120	broad.mit.edu	37	chr2	79254230	79254230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggctgagggatccttcgtgtCctccctggtgaggagcatta	6	11	14	10	1	0	2	0	2	0	0	4	4	3	4	3	4	1	2	3	4	1	2			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:79254230C>T	ENST00000272324.5	+	4	450	c.266C>T	c.(265-267)tCc>tTc	p.S89F	REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Missense_Mutation_p.S89F	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	89	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCTTCGTGTCCTCCCTGGTG	0.537													21	106					0	0	0	0	T	79254230	C	T	79254230	3	4	171	1	0	0	0	0	1	0	0	0	13295	855	30	2	276	2	REG3G	2	79254230	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08	24771001	79254230	163945143	13	30173											
REV1	51455	broad.mit.edu	37	chr2	100055565	100055565	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaccaagcaatcctgtgtCtttaaggcaccattagagct	11	10	9	11	0	1	1	0	0	1	1	2	1	2	1	3	2	2	4	3	2	4	3			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:100055565C>T	ENST00000258428.3	-	6	939	c.711G>A	c.(709-711)aaG>aaA	p.K237K	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.K237K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	237					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATCCTGTGTCTTTAAGGCAC	0.512								Direct reversal of damage					4	34					0	0	0	0	T	100055565	C	T	100055565	2	4	171	1	0	0	0	0	0	0	0	1	13321	912	32	2		2	REV1	2	100055565	Silent	SNP	C	TCGA-CR-5247-01A-01D-2012-08	20801335	100055565	143143808	14	30174											
IL1R2	7850	broad.mit.edu	37	chr2	102636165	102636165	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggggaccactcacttactCgtacacgatgtggccctgga	9	8	12	12	2	1	0	1	0	0	0	2	3	1	2	2	4	2	1	2	4	2	2			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:102636165C>T	ENST00000332549.3	+	5	808	c.579C>T	c.(577-579)ctC>ctT	p.L193L	IL1R2_ENST00000441002.1_Silent_p.L193L|IL1R2_ENST00000393414.2_Silent_p.L193L	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	193	Ig-like C2-type 2.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CTCACTTACTCGTACACGATG	0.418													9	21					0	0	0	0	T	102636165	C	T	102636165	2	4	171	1	0	0	0	0	0	0	0	1	7712	871	31	1		1	IL1R2	2	102636165	Silent	SNP	C	TCGA-CR-5247-01A-01D-2012-08	2580600	102636165	140563208	15	30175											
RGPD4	285190	broad.mit.edu	37	chr2	108478175	108478175	+	Frame_Shift_Del	DEL	A	A	-																															attttagatgacagtgattcAaatctttcagtggtcaagaa																										TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:108478175delA	ENST00000408999.3	+	15	2261	c.2184delA	c.(2182-2184)tcfs	p.S728fs	RGPD4_ENST00000354986.4_Frame_Shift_Del_p.S728fs	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	728					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACAGTGATTCAAATCTTTCAG	0.373													8	45	---	---	---	---					-	108478175	A	-	108478175	7	5	171	1	0	1	0	1	0	0	0	0	13370	117	5	0	2242	0	RGPD4	2	108478175	Frame_Shift_Del	DEL	A	TCGA-CR-5247-01A-01D-2012-08	5842010	108478175	134721198	16	30176											
LCT	3938	broad.mit.edu	37	chr2	136566782	136566782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctggaaacaaaagtctgcGtagctgtcaaacaagtcaat	15	9	9	8	1	4	0	2	0	2	0	4	1	4	1	0	1	4	2	0	1	7	1			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:136566782G>A	ENST00000264162.2	-	8	3145	c.3135C>T	c.(3133-3135)taC>taT	p.Y1045Y		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1045	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AAAAGTCTGCGTAGCTGTCAA	0.493													28	55					0	0	0	0	A	136566782	G	A	136566782	2	1	171	1	0	0	0	0	0	0	0	1	8746	1140	40	1		1	LCT	2	136566782	Silent	SNP	G	TCGA-CR-5247-01A-01D-2012-08	28088607	136566782	106632591	17	30177											
MCM6	4175	broad.mit.edu	37	chr2	136610440	136610440	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcaattgattcctcaattcTtgaatgcaaatctactatgc	13	15	4	9	0	4	2	2	2	2	0	5	2	5	2	1	0	3	1	1	0	6	6			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:136610440T>C	ENST00000264156.2	-	12	1732	c.1672A>G	c.(1672-1674)Aga>Gga	p.R558G	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	558					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCCTCAATTCTTGAATGCAAA	0.368													22	38					0	0	0	0	C	136610440	T	C	136610440	3	2	171	1	0	0	0	0	1	0	0	0	9460	1617	56	5	817	5	MCM6	2	136610440	Missense_Mutation	SNP	T	TCGA-CR-5247-01A-01D-2012-08	43658	136610440	106588933	18	30178											
COL4A4	1286	broad.mit.edu	37	chr2	227966581	227966581	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctataatgaggtacatttacCtttaatcctggaaaacctgg	13	13	7	8	0	0	1	0	1	0	0	1	2	1	2	3	3	3	1	3	3	7	7			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:227966581C>A	ENST00000396625.3	-	16	1182	c.975_splice	c.e16+1	p.K325_splice	COL4A4_ENST00000329662.7_Splice_Site_p.K325_splice	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	325	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTACATTTACCTTTAATCCTG	0.318													5	7					0.00116845	0.00132726	1	0	A	227966581	C	A	227966581	5	1	171	1	0	0	0	0	0	0	1	0	3723	695	24	4	4229	4	COL4A4	2	227966581	Splice_Site	SNP	C	TCGA-CR-5247-01A-01D-2012-08	91356141	227966581	15232792	19	30179											
NCL	4691	broad.mit.edu	37	chr2	232326373	232326378	+	In_Frame_Del	DEL	TCCTCG	TCCTCG	-																															caatttcatcttcatcctcaTcctcgtcctcgtcatcctcc																								rs151176710	byFrequency	TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr2:232326373_232326378delTCCTCG	ENST00000322723.4	-	3	726_731	c.486_491delCGAGGA	c.(484-492)gat>ga	p.DED162del		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	162	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ttcatcctcatcctcgtcctcgtcat	0.519													22	44	---	---	---	---					-	232326378	TCCTCG	-	232326373	7	5	171	1	0	1	0	1	0	0	0	0	10296	1435	50	0	1689	0	NCL	2	232326373	In_Frame_Del	DEL	TCCTCG	TCGA-CR-5247-01A-01D-2012-08	4359792	232326373	10873000	20	30180											
BSN	8927	broad.mit.edu	37	chr3	49700618	49700618	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgctcgggacctgggtcGccatgaggcccggccccact	6	5	13	17	4	0	1	0	1	0	0	2	2	0	2	5	4	0	1	5	4	0	0			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr3:49700618G>T	ENST00000296452.4	+	7	11141	c.11027G>T	c.(11026-11028)cGc>cTc	p.R3676L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3676					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GACCTGGGTCGCCATGAGGCC	0.667													8	26					0.00307968	0.00343164	1	0	T	49700618	G	T	49700618	3	4	171	1	0	0	0	0	1	0	0	0	1538	1087	38	3	11053	3	BSN	3	49700618	Missense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08		49700618	148321812	21	30181											
KLHL24	54800	broad.mit.edu	37	chr3	183368865	183368865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgttgggtctatcgtgccGttgatctgagaagaccactg	7	12	13	9	3	2	3	0	2	2	2	3	4	2	3	2	1	2	2	2	1	2	3			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr3:183368865G>A	ENST00000454652.1	+	4	1107	c.721G>A	c.(721-723)Gtt>Att	p.V241I	KLHL24_ENST00000476808.1_Missense_Mutation_p.V241I|KLHL24_ENST00000242810.6_Missense_Mutation_p.V241I			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	241	BACK.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CTATCGTGCCGTTGATCTGAG	0.418													13	53					0	0	0	0	A	183368865	G	A	183368865	3	1	171	1	0	0	0	0	1	0	0	0	8431	1145	40	1	723	1	KLHL24	3	183368865	Missense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08	133668247	183368865	14653565	22	30182											
GABRA2	2555	broad.mit.edu	37	chr4	46334667	46334667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagggccaaaactggtcaCgtagatgttagtgaagactt	13	9	12	7	1	1	3	1	1	0	2	1	4	1	3	1	2	1	2	1	2	5	3			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr4:46334667C>T	ENST00000510861.1	-	4	393	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	GABRA2_ENST00000356504.1_Missense_Mutation_p.V74M|GABRA2_ENST00000515082.1_Missense_Mutation_p.V74M|GABRA2_ENST00000381620.4_Missense_Mutation_p.V74M|GABRA2_ENST00000540012.1_Intron|GABRA2_ENST00000507069.1_Missense_Mutation_p.V74M|GABRA2_ENST00000514090.1_Missense_Mutation_p.V74M			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	74					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAACTGGTCACGTAGATGTTA	0.343													14	34					0	0	0	0	T	46334667	C	T	46334667	3	4	171	1	0	0	0	0	1	0	0	0	6209	536	19	1	1163	1	GABRA2	4	46334667	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08		46334667	144819609	23	30183											
LRRC66	339977	broad.mit.edu	37	chr4	52862054	52862054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaacactgacaggcacacCgccagagccaggtcctgggg	11	4	13	13	1	0	3	0	2	0	1	1	3	1	3	4	4	2	1	4	4	1	0			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr4:52862054C>T	ENST00000343457.3	-	4	1140	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	378						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ACAGGCACACCGCCAGAGCCA	0.562													32	59					0	0	0	0	T	52862054	C	T	52862054	2	4	171	1	0	0	0	0	0	0	0	1	9082	639	23	1		1	LRRC66	4	52862054	Silent	SNP	C	TCGA-CR-5247-01A-01D-2012-08	6527387	52862054	138292222	24	30184											
PCDH10	57575	broad.mit.edu	37	chr4	134071659	134071659	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaatgacaaccccccctctTtcccggagccagacctgacg	9	8	7	17	2	1	3	0	2	1	1	2	4	2	4	6	1	2	0	6	1	2	2			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr4:134071659T>C	ENST00000264360.4	+	1	1190	c.364T>C	c.(364-366)Ttc>Ctc	p.F122L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	122	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCCCCCTCTTTCCCGGAGCC	0.612													16	86					0	0	0	0	C	134071659	T	C	134071659	3	2	171	1	0	0	0	0	1	0	0	0	11578	1841	64	5	366	5	PCDH10	4	134071659	Missense_Mutation	SNP	T	TCGA-CR-5247-01A-01D-2012-08	81209605	134071659	57082617	25	30185											
NPY5R	4889	broad.mit.edu	37	chr4	164271702	164271702	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgatatcttggttgtgctgTtttgctcacctttcacactg	5	18	8	10	0	3	1	2	1	1	0	3	1	3	1	1	1	2	4	1	1	1	6			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr4:164271702T>C	ENST00000515560.1	+	4	1799	c.277T>C	c.(277-279)Ttt>Ctt	p.F93L	NPY5R_ENST00000506953.1_Missense_Mutation_p.F93L|NPY5R_ENST00000338566.3_Missense_Mutation_p.F93L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	93					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GGTTGTGCTGTTTTGCTCACC	0.403													66	148					0	0	0	0	C	164271702	T	C	164271702	3	2	171	1	0	0	0	0	1	0	0	0	10681	1725	60	5	279	5	NPY5R	4	164271702	Missense_Mutation	SNP	T	TCGA-CR-5247-01A-01D-2012-08	30200043	164271702	26882574	26	30186											
MTRR	4552	broad.mit.edu	37	chr5	7873624	7873624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatttctttgctcacctgCggtatgggttactgggtaat	6	17	11	7	1	2	1	1	1	1	0	2	1	2	1	1	3	3	4	1	3	3	6			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr5:7873624C>T	ENST00000264668.2	+	3	379	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	MTRR_ENST00000341013.6_Intron|MTRR_ENST00000440940.2_Missense_Mutation_p.R90W|MTRR_ENST00000502509.1_Intron	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	117	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TGCTCACCTGCGGTATGGGTT	0.448													17	69					0	0	0	0	T	7873624	C	T	7873624	3	4	171	1	0	0	0	0	1	0	0	0	10031	759	27	1	359	1	MTRR	5	7873624	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08		7873624	173041636	27	30187											
RNF14	9604	broad.mit.edu	37	chr5	141359811	141359811	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgccagctgcctgtgatgCaggaacctggctgcaccatg	7	8	13	13	0	0	1	0	1	0	0	0	2	0	2	4	2	6	5	4	2	1	0			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr5:141359811C>G	ENST00000394520.2	+	6	1267	c.958C>G	c.(958-960)Cag>Gag	p.Q320E	RNF14_ENST00000394515.3_Missense_Mutation_p.Q144E|RNF14_ENST00000394519.1_Missense_Mutation_p.Q320E|RNF14_ENST00000394514.2_Missense_Mutation_p.Q194E|RNF14_ENST00000347642.3_Missense_Mutation_p.Q320E|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000356143.1_Missense_Mutation_p.Q320E	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	320					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GCCTGTGATGCAGGAACCTGG	0.567													59	31					0	0	0	0	G	141359811	C	G	141359811	3	3	171	1	0	0	0	0	1	0	0	0	13528	711	25	4	972	4	RNF14	5	141359811	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08	133486187	141359811	39555449	28	30188											
NSD1	64324	broad.mit.edu	37	chr5	176709563	176709563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatgatatcactaatttctAtatgctcaccctagacaaag	15	12	4	10	0	3	2	2	1	1	1	3	2	3	2	1	0	1	1	1	0	6	6			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr5:176709563A>G	ENST00000439151.2	+	19	6035	c.5990A>G	c.(5989-5991)tAt>tGt	p.Y1997C	NSD1_ENST00000361032.4_Missense_Mutation_p.Y1894C|NSD1_ENST00000354179.4_Missense_Mutation_p.Y1728C|NSD1_ENST00000347982.4_Missense_Mutation_p.Y1728C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1997	S-adenosyl-L-methionine binding.|SET.		Y -> C (in WES).		negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACTAATTTCTATATGCTCACC	0.373			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			50	21					0	0	0	0	G	176709563	A	G	176709563	3	3	171	1	0	0	0	0	1	0	0	0	10740	449	16	5	6060	5	NSD1	5	176709563	Missense_Mutation	SNP	A	TCGA-CR-5247-01A-01D-2012-08	35349752	176709563	4205697	29	30189											
HIST1H4E	8367	broad.mit.edu	37	chr6	26204885	26204885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtcatgtctggtcgcGgcaaaggcggaaagggactg	8	9	17	7	3	2	0	1	0	1	0	3	2	2	2	0	6	0	2	0	6	2	1			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr6:26204885G>A	ENST00000360441.4	+	1	28	c.13G>A	c.(13-15)Ggc>Agc	p.G5S		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	5					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.G5C(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GTCTGGTCGCGGCAAAGGCGG	0.517													30	63					0	0	0	0	A	26204885	G	A	26204885	3	1	171	1	0	0	0	0	1	0	0	0	7219	1116	39	1	15	1	HIST1H4E	6	26204885	Missense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08		26204885	144910182	30	30190											
ABCF1	23	broad.mit.edu	37	chr6	30546133	30546133	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtcatttcagtacccgccCcaaaaccccgcggagggaag	10	6	10	15	3	2	0	2	0	0	0	2	2	2	2	5	2	2	1	5	2	4	2			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr6:30546133C>A	ENST00000326195.8	+	5	464	c.352C>A	c.(352-354)Cca>Aca	p.P118T	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.P118T	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	118					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AGTACCCGCCCCAAAACCCCG	0.498													4	78					0.00909568	0.00994574	1	0	A	30546133	C	A	30546133	3	1	171	1	0	0	0	0	1	0	0	0	65	623	22	4	370	4	ABCF1	6	30546133	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08	4341248	30546133	140568934	31	30191											
TIAM2	26230	broad.mit.edu	37	chr6	155485661	155485661	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacccaaagagtctccttgCagccgccagccgcccctcca	9	5	8	19	2	1	1	0	0	1	1	3	2	2	1	8	0	4	1	8	0	2	1			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr6:155485661C>A	ENST00000461783.3	+	10	3414	c.2141C>A	c.(2140-2142)gCa>gAa	p.A714E	TIAM2_ENST00000529824.2_Missense_Mutation_p.A714E|TIAM2_ENST00000456144.1_Missense_Mutation_p.A714E|TIAM2_ENST00000367174.2_Missense_Mutation_p.A66E|TIAM2_ENST00000318981.5_Missense_Mutation_p.A714E|TIAM2_ENST00000528391.2_Missense_Mutation_p.A26E|TIAM2_ENST00000360366.4_Missense_Mutation_p.A714E|TIAM2_ENST00000456877.2_Missense_Mutation_p.A26E			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	714					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGTCTCCTTGCAGCCGCCAGC	0.552													80	148					5.82419e-33	6.95337e-33	1	0	A	155485661	C	A	155485661	3	1	171	1	0	0	0	0	1	0	0	0	15985	710	25	4	2159	4	TIAM2	6	155485661	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08	124939528	155485661	15629406	32	30192											
INTS1	26173	broad.mit.edu	37	chr7	1523641	1523641	+	Missense_Mutation	SNP	A	A	G																															agacctcctcgccctcacccAgctgtagacctcctcgccct																										TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr7:1523641A>G	ENST00000389470.4	-	26	3912	c.3913T>C	c.(3913-3915)Tgg>Cgg	p.W1305R	INTS1_ENST00000404767.3_Missense_Mutation_p.W1143R			Q8N201	INT1_HUMAN	integrator complex subunit 1	1143					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCCCTCACCCAGCTGTAGACC	0.687													14	55					0	0	0	0	G	1523641	A	G	1523641	3	3	171	1	0	0	0	0	1	0	0	0	7828	188	7	5	3241	5	INTS1	7	1523641	Missense_Mutation	SNP	A	TCGA-CR-5247-01A-01D-2012-08		1523641	157615022	33	30193	232	2									
INTS1	26173	broad.mit.edu	37	chr7	1523644	1523644	+	Missense_Mutation	SNP	T	T	C																															cctcctcgccctcacccagcTgtagacctcctcgccctcct																										TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr7:1523644T>C	ENST00000389470.4	-	26	3909	c.3910A>G	c.(3910-3912)Agc>Ggc	p.S1304G	INTS1_ENST00000404767.3_Missense_Mutation_p.S1142G			Q8N201	INT1_HUMAN	integrator complex subunit 1	1142					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTCACCCAGCTGTAGACCTCC	0.687													14	55					0	0	0	0	C	1523644	T	C	1523644	3	2	171	1	0	0	0	0	1	0	0	0	7828	1580	55	5	3244	5	INTS1	7	1523644	Missense_Mutation	SNP	T	TCGA-CR-5247-01A-01D-2012-08	3	1523644	157615019	34	30194	232	2									
AHR	196	broad.mit.edu	37	chr7	17382646	17382646	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacttcatcatccgtcagaAgccagaccttttcctgattt	9	13	5	14	1	3	3	3	1	0	2	5	3	5	3	5	0	1	0	5	0	1	4	rs146912085		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr7:17382646A>T	ENST00000242057.4	+	11	3148	c.2505A>T	c.(2503-2505)gaA>gaT	p.E835D		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	835				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857).	apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ATCCGTCAGAAGCCAGACCTT	0.373													77	87					0	0	0	0	T	17382646	A	T	17382646	3	4	171	1	0	0	0	0	1	0	0	0	416	69	3	5	2547	5	AHR	7	17382646	Missense_Mutation	SNP	A	TCGA-CR-5247-01A-01D-2012-08	15859002	17382646	141756017	35	30195											
HDAC9	9734	broad.mit.edu	37	chr7	18975526	18975526	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctcacagccatctgtgaTgcatcagaagcctgtgtaaa	12	10	9	10	0	3	2	2	1	2	1	4	3	3	2	2	0	3	2	2	0	3	1			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr7:18975526T>G	ENST00000406451.3	+	23	3039	c.2889T>G	c.(2887-2889)gaT>gaG	p.D963E	HDAC9_ENST00000441542.2_Missense_Mutation_p.D966E|HDAC9_ENST00000432645.2_Missense_Mutation_p.D963E|HDAC9_ENST00000401921.1_Missense_Mutation_p.D922E	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	963	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCATCTGTGATGCATCAGAAG	0.438													36	96					0	0	0	0	G	18975526	T	G	18975526	3	3	171	1	0	0	0	0	1	0	0	0	7064	1461	51	5	3097	5	HDAC9	7	18975526	Missense_Mutation	SNP	T	TCGA-CR-5247-01A-01D-2012-08	1592880	18975526	140163137	36	30196											
KLHL7	55975	broad.mit.edu	37	chr7	23213806	23213806	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattctcgaatataatacCgaaacagacaaatgggttgc	16	9	7	9	2	1	1	0	0	1	1	2	3	1	1	1	1	3	1	1	1	6	5	rs142565112		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr7:23213806C>T	ENST00000322231.7	+	12	2074	c.1584C>T	c.(1582-1584)acC>acT	p.T528T	KLHL7_ENST00000409689.1_Silent_p.T502T|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000542558.1_Silent_p.T325T|KLHL7_ENST00000545443.1_Silent_p.T528T|KLHL7_ENST00000339077.4_Silent_p.T550T|KLHL7_ENST00000539124.1_Silent_p.T474T			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	550						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATATAATACCGAAACAGACA	0.423													27	46					0	0	0	0	T	23213806	C	T	23213806	2	4	171	1	0	0	0	0	0	0	0	1	8446	639	23	1		1	KLHL7	7	23213806	Silent	SNP	C	TCGA-CR-5247-01A-01D-2012-08	4238280	23213806	135924857	37	30197											
SRRT	51593	broad.mit.edu	37	chr7	100484575	100484575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatcaacgtggagcgggatGagaagttgattaaggtgcca	13	8	15	5	2	1	3	1	2	0	2	1	6	1	5	1	3	3	1	1	3	3	2			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr7:100484575G>A	ENST00000388793.4	+	14	2024	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	SRRT_ENST00000432932.1_Missense_Mutation_p.E602K|SRRT_ENST00000457580.2_Missense_Mutation_p.E603K|SRRT_ENST00000347433.4_Missense_Mutation_p.E603K	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	603					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGAGCGGGATGAGAAGTTGAT	0.647													30	196					0	0	0	0	A	100484575	G	A	100484575	3	1	171	1	0	0	0	0	1	0	0	0	15262	1291	45	2	1857	2	SRRT	7	100484575	Missense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08	77270769	100484575	58654088	38	30198											
CUX1	1523	broad.mit.edu	37	chr7	101844779	101844779	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaaagcaggcaccactgtcCcagagtgacatcaccatcct	12	8	7	14	0	1	2	1	1	0	1	3	2	3	2	4	1	1	2	4	1	2	1	rs150235372		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr7:101844779C>T	ENST00000360264.3	+	18	2255	c.2235C>T	c.(2233-2235)tcC>tcT	p.S745S	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.S576S|CUX1_ENST00000546411.2_Silent_p.S632S|CUX1_ENST00000549414.2_Silent_p.S712S|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Silent_p.S678S|CUX1_ENST00000292535.7_Silent_p.S734S|CUX1_ENST00000292538.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	734					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S734S(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CACCACTGTCCCAGAGTGACA	0.632													22	318					0	0	0	0	T	101844779	C	T	101844779	2	4	171	1	0	0	0	0	0	0	0	1	4096	610	22	4		4	CUX1	7	101844779	Silent	SNP	C	TCGA-CR-5247-01A-01D-2012-08	1360204	101844779	57293884	39	30199											
SSPO	23145	broad.mit.edu	37	chr7	149483094	149483094	+	RNA	DEL	G	G	-																															agagaagcaaaagaagggctGgacaggggagctagagagcc																										TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr7:149483094delG	ENST00000378016.2	+	0	3244							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			aagaagggctggaCAGGGGAG	0.537													5	2	---	---	---	---					-	149483094	G	-	149483094	6	5	171	0	1	1	0	1	0	0	0	0	15279	1363	47	0		0	SSPO	7	149483094	RNA	DEL	G	TCGA-CR-5247-01A-01D-2012-08	47638315	149483094	9655569	40	30200											
XKR5	389610	broad.mit.edu	37	chr8	6673270	6673270	+	RNA	DEL	A	A	-																															ctaccctttgagcccattgtAaaaaaaaaaaatacgttggg																										TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					-	6673270	A	-	6673270	6	5	171	0	1	1	0	1	0	0	0	0	17530	377	13	0		0	XKR5	8	6673270	RNA	DEL	A	TCGA-CR-5247-01A-01D-2012-08		6673270	139690752	41	30201											
TRPS1	7227	broad.mit.edu	37	chr8	116430580	116430580	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgaagcttctggtagaggCcacacgcgttgcatacatat	11	10	11	9	2	1	2	0	1	1	1	1	2	1	2	1	2	3	4	1	2	4	5			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr8:116430580C>G	ENST00000395715.3	-	6	3378	c.2801G>C	c.(2800-2802)gGc>gCc	p.G934A	TRPS1_ENST00000520276.1_Missense_Mutation_p.G925A|TRPS1_ENST00000519076.1_Missense_Mutation_p.G675A|TRPS1_ENST00000220888.5_Missense_Mutation_p.G921A	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	921					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGGTAGAGGCCACACGCGTT	0.483									Langer-Giedion syndrome				137	31					0	0	0	0	G	116430580	C	G	116430580	3	3	171	1	0	0	0	0	1	0	0	0	16688	739	26	4	1091	4	TRPS1	8	116430580	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08	109757310	116430580	29933442	42	30202											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777750	18777750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagatctcagcggcccagCagctctcagcctcggaggtg	8	6	13	14	2	2	1	2	0	2	1	5	2	2	2	2	3	4	3	2	3	1	0			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr9:18777750C>A	ENST00000380548.4	+	19	3862	c.3523C>A	c.(3523-3525)Cag>Aag	p.Q1175K		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1175	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGCGGCCCAGCAGCTCTCAGC	0.692													13	15					0.00136819	0.00153922	1	0	A	18777750	C	A	18777750	3	1	171	1	0	0	0	0	1	0	0	0	274	711	25	4	3601	4	ADAMTSL1	9	18777750	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08		18777750	122435681	43	30203											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	8	6	10	17	3	2	1	2	1	0	0	4	1	3	1	3	1	4	4	3	1	0	0	rs121913387		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	6					0	0	0	0	A	21971186	G	A	21971186	4	1	171	1	0	0	0	0	0	1	0	0	3190	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08	3193436	21971186	119242245	44	30204											
GDA	9615	broad.mit.edu	37	chr9	74834409	74834409	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagatttgtgtcagaaaTgctccaaaagaacgtgagta	14	12	9	6	1	2	4	2	1	0	3	3	4	3	4	1	0	2	2	1	0	5	3			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr9:74834409T>A	ENST00000358399.3	+	6	686	c.593T>A	c.(592-594)aTg>aAg	p.M198K	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376989.3_Missense_Mutation_p.M173K|GDA_ENST00000238018.4_Missense_Mutation_p.M198K|GDA_ENST00000376986.1_Missense_Mutation_p.M156K|GDA_ENST00000545168.1_Missense_Mutation_p.M124K	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	198					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)		GTGTCAGAAATGCTCCAAAAG	0.323													10	15					0	0	0	0	A	74834409	T	A	74834409	3	1	171	1	0	0	0	0	1	0	0	0	6356	1464	51	5	615	5	GDA	9	74834409	Missense_Mutation	SNP	T	TCGA-CR-5247-01A-01D-2012-08	52863223	74834409	66379022	45	30205											
DOLK	22845	broad.mit.edu	37	chr9	131708963	131708963	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagagcgcttgatgagcTggttgaggacaaagctaatg	12	9	14	6	1	1	4	1	3	0	1	1	6	1	5	0	2	3	4	0	2	2	3			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr9:131708963T>G	ENST00000372586.3	-	1	935	c.620A>C	c.(619-621)cAg>cCg	p.Q207P	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	207					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CTTGATGAGCTGGTTGAGGAC	0.542													40	35					0	0	0	0	G	131708963	T	G	131708963	3	3	171	1	0	0	0	0	1	0	0	0	4739	1580	55	5	1000	5	DOLK	9	131708963	Missense_Mutation	SNP	T	TCGA-CR-5247-01A-01D-2012-08	56874554	131708963	9504468	46	30206											
FIBCD1	84929	broad.mit.edu	37	chr9	133805423	133805423	+	Frame_Shift_Del	DEL	C	C	-																															cggtgcacagcacgtagccgCagctcggccgctgcaggccc																										TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr9:133805423delC	ENST00000372338.4	-	2	325	c.83delG	c.(82-84)tcfs	p.C28fs	FIBCD1_ENST00000253018.4_5'UTR|FIBCD1_ENST00000448616.1_Frame_Shift_Del_p.C28fs|FIBCD1_ENST00000372337.2_5'UTR	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	28					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CACGTAGCCGCAGCTCGGCCG	0.682													2	4	---	---	---	---					-	133805423	C	-	133805423	7	5	171	1	0	1	0	1	0	0	0	0	5929	710	25	0	1326	0	FIBCD1	9	133805423	Frame_Shift_Del	DEL	C	TCGA-CR-5247-01A-01D-2012-08	2096460	133805423	7408008	47	30207											
TUBAL3	79861	broad.mit.edu	37	chr10	5435651	5435651	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggcccaggcctccacaatCgccgtggtgttgctcagcat	6	8	12	15	3	1	0	1	0	0	0	3	0	2	0	4	3	2	3	4	3	1	1			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr10:5435651C>T	ENST00000380419.3	-	4	1207	c.1170G>A	c.(1168-1170)gcG>gcA	p.A390A	TUBAL3_ENST00000479328.1_Silent_p.A350A	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	390					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CCTCCACAATCGCCGTGGTGT	0.592													31	46					0	0	0	0	T	5435651	C	T	5435651	2	4	171	1	0	0	0	0	0	0	0	1	16847	871	31	1		1	TUBAL3	10	5435651	Silent	SNP	C	TCGA-CR-5247-01A-01D-2012-08		5435651	130099096	48	30208											
BICC1	80114	broad.mit.edu	37	chr10	60549208	60549208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcagaataacactagtGctgtgaaggtaaattattca	14	12	9	6	0	2	2	2	1	1	1	3	2	2	2	0	2	2	2	0	2	7	5			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr10:60549208G>A	ENST00000373886.3	+	7	791	c.787G>A	c.(787-789)Gct>Act	p.A263T		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	263					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TAACACTAGTGCTGTGAAGGT	0.328													31	36					0	0	0	0	A	60549208	G	A	60549208	3	1	171	1	0	0	0	0	1	0	0	0	1432	1319	46	4	813	4	BICC1	10	60549208	Missense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08	55113557	60549208	74985539	49	30209											
LRRTM3	347731	broad.mit.edu	37	chr10	68686715	68686715	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctactgagcggatcagctgTagcactggttatagccccca	9	9	11	12	1	1	1	1	1	0	0	1	2	1	2	2	2	5	5	2	2	4	4			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr10:68686715T>C	ENST00000361320.4	+	2	619	c.41T>C	c.(40-42)gTa>gCa	p.V14A	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	14						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GGATCAGCTGTAGCACTGGTT	0.413													22	28					0	0	0	0	C	68686715	T	C	68686715	3	2	171	1	0	0	0	0	1	0	0	0	9105	1638	57	5	47	5	LRRTM3	10	68686715	Missense_Mutation	SNP	T	TCGA-CR-5247-01A-01D-2012-08	8137507	68686715	66848032	50	30210											
OR4C16	219428	broad.mit.edu	37	chr11	55339991	55339991	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatctgtaagcccctgcacTacatgaccatcataagccag	13	8	6	14	0	2	1	1	1	1	0	2	1	2	1	4	0	4	2	4	0	3	3			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr11:55339991T>A	ENST00000314634.3	+	1	388	c.388T>A	c.(388-390)Tac>Aac	p.Y130N		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GCCCCTGCACTACATGACCAT	0.502													61	95					0	0	0	0	A	55339991	T	A	55339991	3	1	171	1	0	0	0	0	1	0	0	0	11120	1522	53	5	390	5	OR4C16	11	55339991	Missense_Mutation	SNP	T	TCGA-CR-5247-01A-01D-2012-08		55339991	79666525	51	30211											
OR5L2	26338	broad.mit.edu	37	chr11	55594850	55594850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgcactgattcaggtcagCtctcggctccacacccccgt	7	9	8	17	2	3	1	2	1	1	0	5	1	4	1	3	2	2	3	3	2	0	1			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr11:55594850C>A	ENST00000378397.1	+	1	156	c.156C>A	c.(154-156)agC>agA	p.S52R		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCAGGTCAGCTCTCGGCTCC	0.478										HNSCC(27;0.073)			101	220					4.49162e-49	5.41773e-49	1	0	A	55594850	C	A	55594850	3	1	171	1	0	0	0	0	1	0	0	0	11242	796	28	4	158	4	OR5L2	11	55594850	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08	254859	55594850	79411666	52	30212											
MTA2	9219	broad.mit.edu	37	chr11	62362870	62362870	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagcaggaaagtttgtctgTtcttagccagtagcttggcc	9	12	12	8	0	2	0	0	0	2	0	2	2	2	1	2	2	3	5	2	2	4	5			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr11:62362870T>C	ENST00000278823.2	-	14	1738	c.1349A>G	c.(1348-1350)aAc>aGc	p.N450S	MTA2_ENST00000527204.1_Missense_Mutation_p.N277S|MTA2_ENST00000524902.1_Missense_Mutation_p.N277S	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	450					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGTTTGTCTGTTCTTAGCCAG	0.537													69	71					0	0	0	0	C	62362870	T	C	62362870	3	2	171	1	0	0	0	0	1	0	0	0	9979	1725	60	5	677	5	MTA2	11	62362870	Missense_Mutation	SNP	T	TCGA-CR-5247-01A-01D-2012-08	6768020	62362870	72643646	53	30213											
FOLR1	2348	broad.mit.edu	37	chr11	71903251	71903253	+	In_Frame_Del	DEL	CTT	CTT	-																															tgacaacacagctgctgctcCttctagtgtgggtggctgta																										TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr11:71903251_71903253delCTT	ENST00000393679.1	+	2	470_472	c.34_36delCTT	c.(34-36)del	p.L13del	RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_In_Frame_Del_p.L13del|FOLR1_ENST00000393681.2_In_Frame_Del_p.L13del|FOLR1_ENST00000393676.3_In_Frame_Del_p.L13del			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	13					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						GCTGCTGCTCCTTCTAGTGTGGG	0.547													37	99	---	---	---	---					-	71903253	CTT	-	71903251	7	5	171	1	0	1	0	1	0	0	0	0	6026	681	24	0	36	0	FOLR1	11	71903251	In_Frame_Del	DEL	CTT	TCGA-CR-5247-01A-01D-2012-08	9540381	71903251	63103265	54	30214											
PRKRIR	5612	broad.mit.edu	37	chr11	76061960	76061960	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggaagctctgacttacttGtatagagtttaatatatgtg	12	16	9	4	0	1	2	0	1	1	1	1	3	1	3	0	1	2	3	0	1	8	9			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr11:76061960G>C	ENST00000260045.3	-	5	2339	c.2234C>G	c.(2233-2235)aCa>aGa	p.T745R		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	745					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	p.T745R(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGACTTACTTGTATAGAGTTT	0.313													6	23					0	0	0	0	C	76061960	G	C	76061960	3	2	171	1	0	0	0	0	1	0	0	0	12606	1377	48	4	55	4	PRKRIR	11	76061960	Missense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08	4158709	76061960	58944556	55	30215											
DYNC2H1	79659	broad.mit.edu	37	chr11	102988373	102988373	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattaggtggttcatttggAaggtttgttcagaaaaagtt	11	17	11	2	0	2	1	2	0	0	1	2	2	2	2	0	4	0	4	0	4	5	7			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr11:102988373A>T	ENST00000375735.2	+	6	924	c.780A>T	c.(778-780)ggA>ggT	p.G260G	DYNC2H1_ENST00000334267.7_Silent_p.G260G|DYNC2H1_ENST00000398093.3_Silent_p.G260G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	260	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTCATTTGGAAGGTTTGTTC	0.289													11	356					0	0	0	0	T	102988373	A	T	102988373	2	4	171	1	0	0	0	0	0	0	0	1	4882	233	9	5		5	DYNC2H1	11	102988373	Silent	SNP	A	TCGA-CR-5247-01A-01D-2012-08	26926413	102988373	32018143	56	30216											
H2AFJ	55766	broad.mit.edu	37	chr12	14927722	14927722	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgaccatcgctcagggCggcgtcctgcccaacatcca	10	6	10	15	3	1	1	1	1	0	0	4	1	3	1	4	2	2	1	4	2	2	0			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr12:14927722C>T	ENST00000544848.1	+	1	453	c.318C>T	c.(316-318)ggC>ggT	p.G106G		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	106					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						TCGCTCAGGGCGGCGTCCTGC	0.597													4	108					0	0	0	0	T	14927722	C	T	14927722	2	4	171	1	0	0	0	0	0	0	0	1	6976	755	27	1		1	H2AFJ	12	14927722	Silent	SNP	C	TCGA-CR-5247-01A-01D-2012-08		14927722	118924173	57	30217											
NACA	4666	broad.mit.edu	37	chr12	57111165	57111165	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggggagggaggagtcatAgcgggacctcctttgtggga	7	9	19	6	1	1	0	1	0	0	0	2	5	2	5	2	6	1	0	2	6	1	3			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr12:57111165A>T	ENST00000454682.1	-	3	4430	c.4149T>A	c.(4147-4149)gcT>gcA	p.A1383A	NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGGAGTCATAGCGGGACCTC	0.597			T	BCL6	NHL								10	23					0	0	0	0	T	57111165	A	T	57111165	2	4	171	1	0	0	0	0	0	0	0	1	10203	407	15	5		5	NACA	12	57111165	Silent	SNP	A	TCGA-CR-5247-01A-01D-2012-08	42183443	57111165	76740730	58	30218											
HELB	92797	broad.mit.edu	37	chr12	66717930	66717930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttcctgattttgctaaaaAtaagcgtgactttgaaagta	13	14	8	6	1	0	3	0	3	0	0	1	3	1	3	1	0	2	3	1	0	6	7			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr12:66717930A>G	ENST00000247815.4	+	10	2524	c.2465A>G	c.(2464-2466)aAt>aGt	p.N822S		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	822					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTTGCTAAAAATAAGCGTGAC	0.333													11	42					0	0	0	0	G	66717930	A	G	66717930	3	3	171	1	0	0	0	0	1	0	0	0	7095	101	4	5	2503	5	HELB	12	66717930	Missense_Mutation	SNP	A	TCGA-CR-5247-01A-01D-2012-08	9606765	66717930	67133965	59	30219											
TMEM132D	121256	broad.mit.edu	37	chr12	130185156	130185156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaagaaggagacgtccGcgttgttgatgtggtaggtc	9	10	16	6	3	1	3	1	1	0	2	3	5	2	4	1	4	0	3	1	4	3	3			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr12:130185156G>A	ENST00000422113.2	-	2	493	c.167C>T	c.(166-168)gCg>gTg	p.A56V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	56						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGAGACGTCCGCGTTGTTGAT	0.557													27	36					0	0	0	0	A	130185156	G	A	130185156	3	1	171	1	0	0	0	0	1	0	0	0	16141	1087	38	1	3164	1	TMEM132D	12	130185156	Missense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08	63467226	130185156	3666739	60	30220											
TBC1D4	9882	broad.mit.edu	37	chr13	75873599	75873599	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaagctgatcccctgaCagtatcccacttctttgtcc	9	11	5	16	0	1	2	0	2	1	0	4	2	4	2	5	0	1	2	5	0	2	3			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr13:75873599C>G	ENST00000377636.3	-	17	3369	c.3023G>C	c.(3022-3024)tGt>tCt	p.C1008S	TBC1D4_ENST00000377625.2_Missense_Mutation_p.C945S|TBC1D4_ENST00000431480.2_Missense_Mutation_p.C1000S|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000425511.1_Missense_Mutation_p.C172S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1008	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GATCCCCTGACAGTATCCCAC	0.493													7	120					0	0	0	0	G	75873599	C	G	75873599	3	3	171	1	0	0	0	0	1	0	0	0	15716	478	17	4	893	4	TBC1D4	13	75873599	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08		75873599	39296279	61	30221											
PCK2	5106	broad.mit.edu	37	chr14	24572431	24572431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgtgggcagcgccatgCgctctgagtccactgctgca	5	11	13	12	2	1	1	0	1	1	0	2	1	2	1	2	1	4	5	2	1	0	1	rs145351624		TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr14:24572431C>T	ENST00000545054.2	+	9	1951	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Intron|PCK2_ENST00000559250.1_Missense_Mutation_p.R491C|PCK2_ENST00000561286.1_Missense_Mutation_p.R345C|PCK2_ENST00000216780.4_Missense_Mutation_p.R479C			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	479					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CAGCGCCATGCGCTCTGAGTC	0.572													3	26					0	0	0	0	T	24572431	C	T	24572431	3	4	171	1	0	0	0	0	1	0	0	0	11653	768	27	1	1561	1	PCK2	14	24572431	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08		24572431	82777109	62	30222											
NFATC4	4776	broad.mit.edu	37	chr14	24842446	24842446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagatgaaaggaacctgCggcctcatgccttctatcag	10	9	10	12	1	3	2	2	1	1	1	3	3	3	3	3	2	4	1	3	2	3	2			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr14:24842446C>T	ENST00000413692.2	+	5	1762	c.1618C>T	c.(1618-1620)Cgg>Tgg	p.R540W	NFATC4_ENST00000556279.1_Missense_Mutation_p.R509W|NFATC4_ENST00000553879.1_Missense_Mutation_p.R407W|NFATC4_ENST00000554966.1_Missense_Mutation_p.R490W|NFATC4_ENST00000554344.1_Missense_Mutation_p.R407W|NFATC4_ENST00000539237.2_Missense_Mutation_p.R509W|NFATC4_ENST00000554591.1_Missense_Mutation_p.R540W|NFATC4_ENST00000553708.1_Missense_Mutation_p.R477W|NFATC4_ENST00000554473.1_Missense_Mutation_p.R12W|NFATC4_ENST00000554661.1_Missense_Mutation_p.R407W|NFATC4_ENST00000250373.4_Missense_Mutation_p.R477W|NFATC4_ENST00000557451.1_Missense_Mutation_p.R407W|NFATC4_ENST00000422617.3_Missense_Mutation_p.R465W|NFATC4_ENST00000556759.1_Missense_Mutation_p.R12W|NFATC4_ENST00000553469.1_Missense_Mutation_p.R509W|NFATC4_ENST00000555167.1_Missense_Mutation_p.R12W|NFATC4_ENST00000555453.1_Missense_Mutation_p.R465W|NFATC4_ENST00000556169.1_Missense_Mutation_p.R465W|NFATC4_ENST00000424781.2_Missense_Mutation_p.R490W|NFATC4_ENST00000554050.1_Missense_Mutation_p.R477W|NFATC4_ENST00000555590.1_Missense_Mutation_p.R490W	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	477	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AAGGAACCTGCGGCCTCATGC	0.567													12	42					0	0	0	0	T	24842446	C	T	24842446	3	4	171	1	0	0	0	0	1	0	0	0	10435	759	27	1	1636	1	NFATC4	14	24842446	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08	270015	24842446	82507094	63	30223											
HERC2	8924	broad.mit.edu	37	chr15	28389924	28389924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcccctgggatgcgcagctCgctggaccagtcggaccact	7	7	12	15	3	0	0	0	0	0	0	3	3	1	3	4	3	2	3	4	3	0	0			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr15:28389924C>T	ENST00000261609.7	-	72	11143	c.11035G>A	c.(11035-11037)Gag>Aag	p.E3679K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3679					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATGCGCAGCTCGCTGGACCAG	0.572													15	34					0	0	0	0	T	28389924	C	T	28389924	3	4	171	1	0	0	0	0	1	0	0	0	7108	893	31	1	3557	1	HERC2	15	28389924	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08		28389924	74141468	64	30224											
PPL	5493	broad.mit.edu	37	chr16	4945271	4945272	+	Frame_Shift_Ins	INS	-	-	T																															ccccacgcacctgctcccccINStcaaagtcacagagtgcctc																										TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr16:4945271_4945272insT	ENST00000345988.2	-	11	1321_1322	c.1232_1233insA	c.(1231-1233)gggfs	p.G411fs	PPL_ENST00000590782.2_Frame_Shift_Ins_p.G409fs	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	411					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTGCTCCCCCTCAAAGTCACA	0.629													14	39	---	---	---	---					T	4945272	-	T	4945271	7	5	171	1	0	1	1	0	0	0	0	0	12410	680	24	0	4085	0	PPL	16	4945271	Frame_Shift_Ins	INS	-	TCGA-CR-5247-01A-01D-2012-08		4945271	85409482	65	30225											
DHX33	56919	broad.mit.edu	37	chr17	5357145	5357145	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaactggtgcctacctctGgatctctggcacggtcatct	7	11	10	13	1	4	0	1	0	3	0	5	1	4	1	2	4	4	2	2	4	2	1			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr17:5357145G>A	ENST00000225296.3	-	7	1503	c.1303C>T	c.(1303-1305)Cag>Tag	p.Q435*	DHX33_ENST00000433302.3_Nonsense_Mutation_p.Q211*	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	435	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCTACCTCTGGATCTCTGGC	0.562													5	41					0	0	0	0	A	5357145	G	A	5357145	4	1	171	1	0	0	0	0	0	1	0	0	4543	1357	47	4	844	4	DHX33	17	5357145	Nonsense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08		5357145	75838065	66	30226											
EPN2	22905	broad.mit.edu	37	chr17	19188962	19188962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgctgtgcccccagcacCgcacaggggccccgctgggt	4	5	13	19	3	0	0	0	0	0	0	1	0	0	0	6	3	2	4	6	3	0	0			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr17:19188962C>T	ENST00000314728.5	+	4	1109	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	EPN2_ENST00000571254.1_Intron|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000347697.2_Intron|EPN2_ENST00000395620.2_Intron|EPN2_ENST00000395626.1_Missense_Mutation_p.R209C|EPN2_ENST00000395618.3_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	209					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					cccccagcaccgcacaggggc	0.697													3	10					0	0	0	0	T	19188962	C	T	19188962	3	4	171	1	0	0	0	0	1	0	0	0	5224	652	23	1	631	1	EPN2	17	19188962	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08	13831817	19188962	62006248	67	30227											
TLCD1	116238	broad.mit.edu	37	chr17	27051713	27051713	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaatgggtgaggtaggcctGaggggccaggcggaagagaa	12	4	20	5	1	0	3	0	2	0	1	0	6	0	4	2	7	0	1	2	7	4	1			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr17:27051713G>C	ENST00000292090.3	-	4	669	c.559C>G	c.(559-561)Cag>Gag	p.Q187E	TLCD1_ENST00000394933.3_Missense_Mutation_p.Q140E	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	187	TLC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					AGGTAGGCCTGAGGGGCCAGG	0.502													7	108					0	0	0	0	C	27051713	G	C	27051713	3	2	171	1	0	0	0	0	1	0	0	0	16031	1299	45	2	188	2	TLCD1	17	27051713	Missense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08	7862751	27051713	54143497	68	30228											
DNAH17	8632	broad.mit.edu	37	chr17	76481086	76481086	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccgtagttcctccccgAtttcttctccagcggcttct	3	13	8	17	4	3	0	0	0	3	0	6	1	5	0	5	2	1	3	5	2	1	5			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr17:76481086A>T	ENST00000389840.5	-	48	7595	c.7471T>A	c.(7471-7473)Tcg>Acg	p.S2491T	DNAH17_ENST00000585328.1_Missense_Mutation_p.S2500T|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCCTCCCCGATTTCTTCTCC	0.632													13	17					0	0	0	0	T	76481086	A	T	76481086	3	4	171	1	0	0	0	0	1	0	0	0	4638	333	12	5	6011	5	DNAH17	17	76481086	Missense_Mutation	SNP	A	TCGA-CR-5247-01A-01D-2012-08	49429373	76481086	4714124	69	30229											
AATK	9625	broad.mit.edu	37	chr17	79108261	79108261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagacacagccaccacggcGagggaggatggccaggacag	14	1	15	11	2	0	1	0	0	0	1	0	5	0	4	3	5	1	0	3	5	1	0			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr17:79108261G>A	ENST00000326724.4	-	2	120	c.96C>T	c.(94-96)ctC>ctT	p.L32L		NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	32						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCACCACGGCGAGGGAGGATG	0.677													16	25					0	0	0	0	A	79108261	G	A	79108261	2	1	171	1	0	0	0	0	0	0	0	1	26	1045	37	1		1	AATK	17	79108261	Silent	SNP	G	TCGA-CR-5247-01A-01D-2012-08	2627175	79108261	2086949	70	30230											
ZNF24	7572	broad.mit.edu	37	chr18	32917689	32917689	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctaatgctgaaggaagcTcctgctttggagctagtgct	9	13	11	8	0	1	1	0	1	1	0	2	3	2	3	1	2	5	5	1	2	4	4			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr18:32917689T>C	ENST00000261332.6	-	4	793	c.614A>G	c.(613-615)gAg>gGg	p.E205G	ZNF24_ENST00000399061.3_Missense_Mutation_p.E205G|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	205					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGAAGGAAGCTCCTGCTTTGG	0.388													56	42					0	0	0	0	C	32917689	T	C	32917689	3	2	171	1	0	0	0	0	1	0	0	0	17887	1551	54	5	496	5	ZNF24	18	32917689	Missense_Mutation	SNP	T	TCGA-CR-5247-01A-01D-2012-08		32917689	45159559	71	30231											
NEDD4L	23327	broad.mit.edu	37	chr18	55996286	55996286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaccaggaggcagcacaccGgcgcttccgctcccgcaggc	8	3	12	18	4	0	0	0	0	0	0	2	1	2	1	4	4	2	5	4	4	1	1			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr18:55996286G>A	ENST00000456986.1	+	10	977	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	NEDD4L_ENST00000356462.6_Missense_Mutation_p.R247Q|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R247Q|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R239Q|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R126Q|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R247Q|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R239Q|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R126Q|NEDD4L_ENST00000400345.3_Missense_Mutation_p.R247Q|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R126Q|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R126Q	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	247					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GCAGCACACCGGCGCTTCCGC	0.602													22	14					0	0	0	0	A	55996286	G	A	55996286	3	1	171	1	0	0	0	0	1	0	0	0	10381	1116	39	1	806	1	NEDD4L	18	55996286	Missense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08	23078597	55996286	22080962	72	30232											
TLE6	79816	broad.mit.edu	37	chr19	2987144	2987144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacccagctgttctgggacaAggagccttggttttggcacg	7	10	14	10	1	1	0	0	0	1	0	1	3	1	2	2	4	2	4	2	4	1	4			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:2987144A>G	ENST00000246112.4	+	7	650	c.449A>G	c.(448-450)aAg>aGg	p.K150R	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Missense_Mutation_p.K27R	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	27					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		TTCTGGGACAAGGAGCCTTGG	0.597													19	89					0	0	0	0	G	2987144	A	G	2987144	3	3	171	1	0	0	0	0	1	0	0	0	16036	72	3	5	471	5	TLE6	19	2987144	Missense_Mutation	SNP	A	TCGA-CR-5247-01A-01D-2012-08		2987144	56141839	73	30233											
CCDC124	115098	broad.mit.edu	37	chr19	18053527	18053529	+	In_Frame_Del	DEL	GGA	GGA	-																															aaggagacgcagcgcctactGgaggaggaggactccaagct																										TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:18053527_18053529delGGA	ENST00000597436.1	+	3	329_331	c.222_224delGGA	c.(220-225)ctg>ct	p.LE74del	CCDC124_ENST00000445755.2_In_Frame_Del_p.LE74del	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	74							DNA binding			central_nervous_system(1)|kidney(2)	3						AGCGCCTACTGGAGGAGGAGGAC	0.675													2	4	---	---	---	---					-	18053529	GGA	-	18053527	7	5	171	1	0	1	0	1	0	0	0	0	2785	1335	47	0	228	0	CCDC124	19	18053527	In_Frame_Del	DEL	GGA	TCGA-CR-5247-01A-01D-2012-08	15066383	18053527	41075456	74	30234											
WDR62	284403	broad.mit.edu	37	chr19	36550887	36550887	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtgtggtggtgatttTggaccccaaggagaacaagc	10	9	14	8	0	0	2	0	1	0	1	0	4	0	3	2	4	3	1	2	4	3	2			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:36550887T>G	ENST00000401500.2	+	3	322	c.287T>G	c.(286-288)tTg>tGg	p.L96W	WDR62_ENST00000388999.3_Missense_Mutation_p.L96W|WDR62_ENST00000270301.7_Missense_Mutation_p.L96W|WDR62_ENST00000378860.4_3'UTR	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	96					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGGTGATTTTGGACCCCAAG	0.582													3	156					0	0	0	0	G	36550887	T	G	36550887	3	3	171	1	0	0	0	0	1	0	0	0	17409	1821	63	5	297	5	WDR62	19	36550887	Missense_Mutation	SNP	T	TCGA-CR-5247-01A-01D-2012-08	18497360	36550887	22578096	75	30235											
ZNF420	147923	broad.mit.edu	37	chr19	37619779	37619780	+	Frame_Shift_Ins	INS	-	-	T																															gcctttactcagagttcacaINStctttctcggcatcagagaa																								rs142983916	by1000genomes	TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:37619779_37619780insT	ENST00000337995.3	+	5	2101_2102	c.1886_1887insT	c.(1885-1887)cctfs	p.P629fs	ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_3'UTR|ZNF420_ENST00000304239.7_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAGTTCACATCTTTCTCGGC	0.426													38	35	---	---	---	---					T	37619780	-	T	37619779	7	5	171	1	0	1	1	0	0	0	0	0	17992	217	8	0	1896	0	ZNF420	19	37619779	Frame_Shift_Ins	INS	-	TCGA-CR-5247-01A-01D-2012-08	1068892	37619779	21509204	76	30236											
EID2	163126	broad.mit.edu	37	chr19	40030302	40030302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgggtggcggagacggaGatagggcaacgcagccaggc	11	3	19	8	3	0	2	0	0	0	2	0	4	0	2	1	6	2	2	1	6	3	1			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:40030302G>A	ENST00000390658.2	-	1	568	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F		NM_153232.3	NP_694964.3	Q8N6I1	EID2_HUMAN	EP300 interacting inhibitor of differentiation 2	140					cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding			large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CGGAGACGGAGATAGGGCAAC	0.602													24	102					0	0	0	0	A	40030302	G	A	40030302	3	1	171	1	0	0	0	0	1	0	0	0	5023	942	33	2	296	2	EID2	19	40030302	Missense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08	2410523	40030302	19098681	77	30237											
ZNF780A	284323	broad.mit.edu	37	chr19	40581529	40581529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttacattcatatggttttaCaccagaatgaatactctgat	13	15	5	8	0	2	3	1	2	1	1	2	3	2	3	1	1	3	1	1	1	6	6			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:40581529C>T	ENST00000450241.2	-	6	1029	c.718G>A	c.(718-720)Gta>Ata	p.V240I	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I			O75290	Z780A_HUMAN	zinc finger protein 780A	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTACACCAGAATGA	0.388													5	219					0	0	0	0	T	40581529	C	T	40581529	3	4	171	1	0	0	0	0	1	0	0	0	18245	478	17	4	1236	4	ZNF780A	19	40581529	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08	551227	40581529	18547454	78	30238											
POLD1	5424	broad.mit.edu	37	chr19	50906777	50906777	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccaccttcatccgtatcatgGaccccgacgtgatcaccggt	8	9	8	16	4	3	1	3	1	0	0	4	3	4	2	6	2	0	1	6	2	1	2			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:50906777G>C	ENST00000440232.2	+	10	1218	c.1165G>C	c.(1165-1167)Gac>Cac	p.D389H	POLD1_ENST00000595904.1_Missense_Mutation_p.D389H|POLD1_ENST00000599857.1_Missense_Mutation_p.D389H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	389					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CCGTATCATGGACCCCGACGT	0.597								DNA polymerases (catalytic subunits)					19	138					0	0	0	0	C	50906777	G	C	50906777	3	2	171	1	0	0	0	0	1	0	0	0	12262	1174	41	2	1199	2	POLD1	19	50906777	Missense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08	10325248	50906777	8222206	79	30239											
LILRB4	11006	broad.mit.edu	37	chr19	55175317	55175317	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggctcgggagtaccGtctggataaagaggaaagcc	11	6	15	9	2	1	1	0	0	1	1	2	5	1	5	3	5	2	2	3	5	4	2			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr19:55175317G>C	ENST00000391736.1	+	5	491	c.176G>C	c.(175-177)cGt>cCt	p.R59P	LILRB4_ENST00000391733.3_Missense_Mutation_p.R59P|LILRB4_ENST00000391734.3_Missense_Mutation_p.R59P|LILRB4_ENST00000430952.2_Missense_Mutation_p.R59P|LILRB4_ENST00000270452.2_Missense_Mutation_p.R59P	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	59	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CGGGAGTACCGTCTGGATAAA	0.587													37	118					0	0	0	0	C	55175317	G	C	55175317	3	2	171	1	0	0	0	0	1	0	0	0	8847	1145	40	3	186	3	LILRB4	19	55175317	Missense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08	4268540	55175317	3953666	80	30240											
TBC1D20	128637	broad.mit.edu	37	chr20	420957	420957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcatataaccgcacgaCgtgcctgaagtcagacagga	14	6	11	10	3	2	2	2	1	0	1	2	5	2	3	2	1	2	1	2	1	4	2			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr20:420957C>T	ENST00000354200.4	-	6	850	c.703G>A	c.(703-705)Gtc>Atc	p.V235I	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	235	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				AACCGCACGACGTGCCTGAAG	0.557													8	48					0	0	0	0	T	420957	C	T	420957	3	4	171	1	0	0	0	0	1	0	0	0	15700	536	19	1	520	1	TBC1D20	20	420957	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08		420957	62604563	81	30241											
SIRPG	55423	broad.mit.edu	37	chr20	1629753	1629753	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aactccacgttctcagggctCccttttcgaaacttcacaca	10	11	5	15	2	2	0	2	0	1	0	6	1	4	0	2	1	2	2	2	1	2	4			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr20:1629753C>T	ENST00000381580.1	-	2	455	c.276G>A	c.(274-276)ggG>ggA	p.G92G	SIRPG_ENST00000344103.4_Silent_p.G125G|SIRPG_ENST00000216927.4_Silent_p.G125G|SIRPG_ENST00000381583.2_Silent_p.G125G|SIRPG_ENST00000303415.3_Silent_p.G125G			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	125	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TCTCAGGGCTCCCTTTTCGAA	0.498													55	83					0	0	0	0	T	1629753	C	T	1629753	2	4	171	1	0	0	0	0	0	0	0	1	14424	842	30	2		2	SIRPG	20	1629753	Silent	SNP	C	TCGA-CR-5247-01A-01D-2012-08	1208796	1629753	61395767	82	30242											
ZBP1	81030	broad.mit.edu	37	chr20	56191333	56191333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccagctctgcaggaccctCgccttcaggatcagtcccgc	6	7	11	17	2	3	0	2	0	1	0	5	2	4	2	4	3	2	2	4	3	0	1			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chr20:56191333C>T	ENST00000340462.4	-	2	506	c.226G>A	c.(226-228)Gag>Aag	p.E76K	ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000541799.1_Missense_Mutation_p.E76K|ZBP1_ENST00000343535.4_Missense_Mutation_p.E76K|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000371173.3_Missense_Mutation_p.E76K			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	76						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GCAGGACCCTCGCCTTCAGGA	0.607													15	43					0	0	0	0	T	56191333	C	T	56191333	3	4	171	1	0	0	0	0	1	0	0	0	17616	893	31	1	1168	1	ZBP1	20	56191333	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08	54561580	56191333	6834187	83	30243											
DMD	1756	broad.mit.edu	37	chrX	31838157	31838157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcagctcttgaagtaaaCggtttaccgccttccactca	9	11	6	15	2	3	1	2	1	1	0	4	1	4	1	4	1	3	3	4	1	4	5			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chrX:31838157C>T	ENST00000357033.4	-	50	7450	c.7244G>A	c.(7243-7245)cGt>cAt	p.R2415H	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.R2411H|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2415					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGAAGTAAACGGTTTACCGC	0.428													20	12					0	0	0	0	T	31838157	C	T	31838157	3	4	171	1	0	0	0	0	1	0	0	0	4617	536	19	1	4081	1	DMD	23	31838157	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08		31838157	123432403	84	30244											
PCDH11X	27328	broad.mit.edu	37	chrX	91873697	91873697	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacaggttattgccctcCatcgtagtcaggcccaatca	9	10	8	14	1	2	0	2	0	0	0	4	0	3	0	4	2	2	2	4	2	3	3			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chrX:91873697C>A	ENST00000373094.1	+	7	4647	c.3802C>A	c.(3802-3804)Cat>Aat	p.H1268N	PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1258N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1250N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1260N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1231N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1231N|PCDH11X_ENST00000504220.1_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1268					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TATTGCCCTCCATCGTAGTCA	0.562													73	83					2.81854e-13	3.26504e-13	1	0	A	91873697	C	A	91873697	3	1	171	1	0	0	0	0	1	0	0	0	11579	594	21	4	3950	4	PCDH11X	23	91873697	Missense_Mutation	SNP	C	TCGA-CR-5247-01A-01D-2012-08	60035540	91873697	63396863	85	30245											
CHRDL1	91851	broad.mit.edu	37	chrX	109943927	109943927	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatatcaccatcagaatgTtcccatgacagttctccatc	13	11	5	12	0	3	3	2	1	1	2	6	3	4	3	3	0	0	2	3	0	3	3			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chrX:109943927T>C	ENST00000218054.4	-	7	757	c.561A>G	c.(559-561)gaA>gaG	p.E187E	CHRDL1_ENST00000444321.2_Silent_p.E187E|CHRDL1_ENST00000372045.1_Silent_p.E181E|CHRDL1_ENST00000482160.1_Silent_p.E108E|CHRDL1_ENST00000394797.4_Silent_p.E187E|CHRDL1_ENST00000434224.1_Silent_p.E108E|CHRDL1_ENST00000372042.1_Silent_p.E188E	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	181					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CATCAGAATGTTCCCATGACA	0.403													12	28					0	0	0	0	C	109943927	T	C	109943927	2	2	171	1	0	0	0	0	0	0	0	1	3402	1722	60	5		5	CHRDL1	23	109943927	Silent	SNP	T	TCGA-CR-5247-01A-01D-2012-08	18070230	109943927	45326633	86	30246											
ARHGAP36	158763	broad.mit.edu	37	chrX	130218231	130218231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgagctggaagacggaGccctgctgctgcagaccctg	7	7	15	12	1	0	3	0	1	0	2	0	5	0	5	2	3	5	5	2	3	1	0			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chrX:130218231G>T	ENST00000276211.5	+	5	943	c.598G>T	c.(598-600)Gcc>Tcc	p.A200S	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.A64S|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A188S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	200					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGAAGACGGAGCCCTGCTGCT	0.463													13	9					1.5842e-08	1.81717e-08	1	0	T	130218231	G	T	130218231	3	4	171	1	0	0	0	0	1	0	0	0	885	971	34	4	612	4	ARHGAP36	23	130218231	Missense_Mutation	SNP	G	TCGA-CR-5247-01A-01D-2012-08	20274304	130218231	25052329	87	30247											
IL9R	3581	broad.mit.edu	37	chrX	155233408	155233408	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcaccgtcgtgctgccAcctgaggcagtgctcgtgcc	5	8	14	14	3	0	1	0	1	0	0	2	2	0	1	4	1	5	4	4	1	0	0			TCGA-CR-5247-01A-01D-2012-08	TCGA-CR-5247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b5b07b4-29ef-4a55-b6ab-93352613f631	0a609d02-a7e6-4a46-8d4e-48923c54d349	g.chrX:155233408A>G	ENST00000369423.2	+	5	493	c.455A>G	c.(454-456)cAc>cGc	p.H152R	IL9R_ENST00000424344.3_Silent_p.P86P|IL9R_ENST00000244174.5_Silent_p.P107P|IL9R_ENST00000540897.1_Missense_Mutation_p.H142R			Q01113	IL9R_HUMAN	interleukin 9 receptor	96	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCGTGCTGCCACCTGAGGCAG	0.607													9	19					0	0	0	0	G	155233408	A	G	155233408	3	3	171	1	0	0	0	0	1	0	0	0	7761	146	6	5	335	5	IL9R	23	155233408	Missense_Mutation	SNP	A	TCGA-CR-5247-01A-01D-2012-08	25015177	155233408	37152	88	30248											
MRPL20	55052	broad.mit.edu	37	chr1	1341194	1341194	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catactcacccataccttaaCtaaattcccaatgagcgctg	13	10	4	14	1	1	1	1	1	0	0	2	1	2	1	3	0	4	1	3	0	6	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:1341194C>G	ENST00000482352.1	-	3	343	c.271G>C	c.(271-273)Gtt>Ctt	p.V91L	MRPL20_ENST00000493287.1_5'UTR|MRPL20_ENST00000344843.7_Missense_Mutation_p.V91L			Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	91							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CATACCTTAACTAAATTCCCA	0.453													40	130					0	0	0	0	G	1341194	C	G	1341194	3	3	172	1	0	0	0	0	1	0	0	0	9856	565	20	4	186	4	MRPL20	1	1341194	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08		1341194	247909427	1	30249											
UTS2	10911	broad.mit.edu	37	chr1	7913473	7913473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgacgcagagcataagatGaaatacgttggtttccattt	13	12	10	6	2	0	4	0	2	0	2	1	4	1	4	1	1	2	4	1	1	3	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:7913473G>T	ENST00000054668.5	-	1	18	c.19C>A	c.(19-21)Cat>Aat	p.H7N	UTS2_ENST00000377516.2_5'UTR	NM_021995.2	NP_068835.1	O95399	UTS2_HUMAN	urotensin 2	101					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		AGCATAAGATGAAATACGTTG	0.413													6	46					3.09899e-07	5.40689e-07	1	0	T	7913473	G	T	7913473	3	4	172	1	0	0	0	0	1	0	0	0	17200	1290	45	2	500	2	UTS2	1	7913473	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	6572279	7913473	241337148	2	30250											
SPEN	23013	broad.mit.edu	37	chr1	16261424	16261424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccagacatataatgcctctCctgtgatttcgtctgtgaag	9	13	8	11	1	2	3	0	2	2	1	4	3	2	3	3	0	1	0	3	0	3	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:16261424C>G	ENST00000375759.3	+	11	8893	c.8689C>G	c.(8689-8691)Cct>Gct	p.P2897A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2897					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAATGCCTCTCCTGTGATTTC	0.582													9	42					0	0	0	0	G	16261424	C	G	16261424	3	3	172	1	0	0	0	0	1	0	0	0	15128	855	30	2	8731	2	SPEN	1	16261424	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	8347951	16261424	232989197	3	30251											
UBR4	23352	broad.mit.edu	37	chr1	19451151	19451151	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccatttctgttagaagctGagtataggcctcaaacacat	13	12	7	9	0	2	2	1	1	1	1	2	2	2	2	2	1	3	3	2	1	6	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:19451151G>C	ENST00000375267.2	-	65	9475	c.9472C>G	c.(9472-9474)Cag>Gag	p.Q3158E	UBR4_ENST00000375226.2_Missense_Mutation_p.Q3134E|UBR4_ENST00000375254.3_Missense_Mutation_p.Q3158E|UBR4_ENST00000375217.2_Missense_Mutation_p.Q3151E			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3158					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTTAGAAGCTGAGTATAGGCC	0.428													11	58					0	0	0	0	C	19451151	G	C	19451151	3	2	172	1	0	0	0	0	1	0	0	0	17000	1299	45	2	6247	2	UBR4	1	19451151	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	3189727	19451151	229799470	4	30252											
UBR4	23352	broad.mit.edu	37	chr1	19453067	19453067	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttccaatattccagcagtGatttgagcacgtgcaggcag	10	11	10	10	1	1	2	0	2	1	0	3	2	3	2	2	1	3	4	2	1	2	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:19453067G>C	ENST00000375267.2	-	64	9314	c.9311C>G	c.(9310-9312)tCa>tGa	p.S3104*	UBR4_ENST00000375226.2_Nonsense_Mutation_p.S3080*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.S3104*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.S3097*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3104					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCCAGCAGTGATTTGAGCAC	0.537													39	124					0	0	0	0	C	19453067	G	C	19453067	4	2	172	1	0	0	0	0	0	1	0	0	17000	1294	45	2	6412	2	UBR4	1	19453067	Nonsense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1916	19453067	229797554	5	30253											
HTR6	3362	broad.mit.edu	37	chr1	19992627	19992627	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcctggaccgctacctgctCatcctctcgccgctgcgcta	5	9	9	18	4	2	0	1	0	1	0	4	1	3	1	5	1	4	4	5	1	2	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:19992627C>G	ENST00000289753.1	+	1	848	c.381C>G	c.(379-381)ctC>ctG	p.L127L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	127					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GCTACCTGCTCATCCTCTCGC	0.687													8	102					0	0	0	0	G	19992627	C	G	19992627	2	3	172	1	0	0	0	0	0	0	0	1	7504	813	29	2		2	HTR6	1	19992627	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	539560	19992627	229257994	6	30254											
CLIC4	25932	broad.mit.edu	37	chr1	25153552	25153552	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatactgctggaatggaCatctttgccaaattctctgc	11	13	7	10	0	3	0	1	0	2	0	4	2	3	2	1	2	4	1	1	2	4	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:25153552C>T	ENST00000374379.4	+	4	557	c.360C>T	c.(358-360)gaC>gaT	p.D120D	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	120	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CTGGAATGGACATCTTTGCCA	0.333													16	143					0	0	0	0	T	25153552	C	T	25153552	2	4	172	1	0	0	0	0	0	0	0	1	3558	477	17	4		4	CLIC4	1	25153552	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	5160925	25153552	224097069	7	30255											
KIAA0319L	79932	broad.mit.edu	37	chr1	35917293	35917293	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcatctttgacagtcaaGgtgaacacataggtccccac	11	10	7	13	0	3	2	2	2	2	0	5	2	4	2	2	2	1	0	2	2	3	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:35917293G>T	ENST00000325722.3	-	13	2232	c.1998C>A	c.(1996-1998)acC>acA	p.T666T	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.T103T	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	666	PKD 4.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGACAGTCAAGGTGAACACAT	0.498											OREG0013354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	129					1.61572e-30	2.95028e-30	1	0	T	35917293	G	T	35917293	2	4	172	1	0	0	0	0	0	0	0	1	8220	987	35	4		4	KIAA0319L	1	35917293	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	10763741	35917293	213333328	8	30256											
GJA9	81025	broad.mit.edu	37	chr1	39340782	39340782	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagtgtggaaatctcattaGaaagtacagtttcctgttca	13	14	8	6	0	2	1	2	0	1	1	4	2	3	2	1	1	1	3	1	1	5	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:39340782G>C	ENST00000454994.2	-	2	1265	c.989C>G	c.(988-990)tCt>tGt	p.S330C	RP5-864K19.4_ENST00000443161.1_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000357771.3_Missense_Mutation_p.S330C|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000360786.3_Missense_Mutation_p.S330C			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	330					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AATCTCATTAGAAAGTACAGT	0.313													21	48					0	0	0	0	C	39340782	G	C	39340782	3	2	172	1	0	0	0	0	1	0	0	0	6457	942	33	2	562	2	GJA9	1	39340782	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	3423489	39340782	209909839	9	30257											
BMP8B	656	broad.mit.edu	37	chr1	40230448	40230448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgggagcgtggggcccGttgacccagcaggccggcca	5	6	17	13	3	0	1	0	1	0	0	0	2	0	2	4	5	2	3	4	5	0	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:40230448G>A	ENST00000372827.3	-	4	1090	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	BMP8B_ENST00000397360.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	239					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGTGGGGCCCGTTGACCCAGC	0.657													8	103					0	0	0	0	A	40230448	G	A	40230448	3	1	172	1	0	0	0	0	1	0	0	0	1472	1144	40	1	509	1	BMP8B	1	40230448	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	889666	40230448	209020173	10	30258											
MFSD2A	84879	broad.mit.edu	37	chr1	40433512	40433512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcatcttggtggccctcatgGagagtaacctcatcattaca	10	12	8	11	0	5	1	4	0	1	1	5	2	5	1	2	3	2	1	2	3	2	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:40433512G>A	ENST00000372809.5	+	11	1314	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.E378K|MFSD2A_ENST00000420632.2_Missense_Mutation_p.E222K	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	391					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGCCCTCATGGAGAGTAACCT	0.542													11	69					0	0	0	0	A	40433512	G	A	40433512	3	1	172	1	0	0	0	0	1	0	0	0	9599	1175	41	2	1213	2	MFSD2A	1	40433512	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	203064	40433512	208817109	11	30259											
TIE1	7075	broad.mit.edu	37	chr1	43778211	43778211	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccagctggatgtgcagctCtaccactgcaccctcctggg	7	9	10	15	0	1	0	0	0	1	0	2	1	2	1	4	2	6	4	4	2	2	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:43778211C>G	ENST00000372476.3	+	12	1945	c.1866C>G	c.(1864-1866)ctC>ctG	p.L622L	TIE1_ENST00000433781.2_Silent_p.L267L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	622	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.L622L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATGTGCAGCTCTACCACTGCA	0.692													5	86					0	0	0	0	G	43778211	C	G	43778211	2	3	172	1	0	0	0	0	0	0	0	1	15987	900	32	2		2	TIE1	1	43778211	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3344699	43778211	205472410	12	30260											
ZSWIM5	57643	broad.mit.edu	37	chr1	45671764	45671764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacgggctccgggatccgctCgaagcgctcctccacccgtt	5	7	11	18	6	0	0	0	0	0	0	5	2	4	1	5	2	1	4	5	2	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:45671764C>G	ENST00000359600.5	-	1	464	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	ZSWIM5_ENST00000464588.1_Intron	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	87							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGATCCGCTCGAAGCGCTCC	0.672													11	36					0	0	0	0	G	45671764	C	G	45671764	3	3	172	1	0	0	0	0	1	0	0	0	18335	893	31	3	3354	3	ZSWIM5	1	45671764	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1893553	45671764	203578857	13	30261											
SSX2IP	117178	broad.mit.edu	37	chr1	85127939	85127939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttttggggagaaagaagaGaaatcatttcctttttcatt	12	16	8	5	0	3	3	2	0	1	3	4	5	4	3	1	2	0	0	1	2	3	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:85127939G>A	ENST00000437941.2	-	7	1140	c.788C>T	c.(787-789)tCt>tTt	p.S263F	SSX2IP_ENST00000342203.3_Missense_Mutation_p.S290F|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S263F|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S290F|SSX2IP_ENST00000603677.1_Intron	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	290					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGAAAGAAGAGAAATCATTTC	0.338													13	122					0	0	0	0	A	85127939	G	A	85127939	3	1	172	1	0	0	0	0	1	0	0	0	15294	942	33	2	1003	2	SSX2IP	1	85127939	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	39456175	85127939	164122682	14	30262											
ABCA4	24	broad.mit.edu	37	chr1	94512578	94512578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctggccggccacagggctCaaaaatctttaccagattct	11	9	9	12	1	3	1	1	0	2	1	3	1	3	1	3	3	2	2	3	3	3	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:94512578C>G	ENST00000370225.3	-	19	2901	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.E865Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	939	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCACAGGGCTCAAAAATCTTT	0.507													15	236					0	0	0	0	G	94512578	C	G	94512578	3	3	172	1	0	0	0	0	1	0	0	0	34	835	29	2	4134	2	ABCA4	1	94512578	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	9384639	94512578	154738043	15	30263											
ABCD3	5825	broad.mit.edu	37	chr1	94955518	94955518	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggagaaatcattattgcaGataacattataaagtacgta	17	12	7	5	1	1	2	1	0	0	2	1	3	1	2	0	1	3	3	0	1	8	7			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:94955518G>C	ENST00000370214.4	+	15	1333	c.1309G>C	c.(1309-1311)Gat>Cat	p.D437H	ABCD3_ENST00000536817.1_Missense_Mutation_p.D364H|ABCD3_ENST00000394233.2_Missense_Mutation_p.D327H|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Missense_Mutation_p.D461H	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	437					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CATTATTGCAGATAACATTAT	0.323													14	88					0	0	0	0	C	94955518	G	C	94955518	3	2	172	1	0	0	0	0	1	0	0	0	62	942	33	2	1398	2	ABCD3	1	94955518	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	442940	94955518	154295103	16	30264											
KCNC4	3749	broad.mit.edu	37	chr1	110754320	110754320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgcctcgcctggctggccGaccccgacggcgggggccgg	2	3	17	19	7	0	0	0	0	0	0	1	2	0	0	7	6	0	1	7	6	0	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:110754320G>A	ENST00000369787.3	+	1	226	c.199G>A	c.(199-201)Gac>Aac	p.D67N	KCNC4_ENST00000413138.3_Missense_Mutation_p.D67N|KCNC4_ENST00000438661.2_Missense_Mutation_p.D67N	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	67					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGGCTGGCCGACCCCGACGG	0.721													6	25					0	0	0	0	A	110754320	G	A	110754320	3	1	172	1	0	0	0	0	1	0	0	0	8070	1058	37	1	201	1	KCNC4	1	110754320	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	15798802	110754320	138496301	17	30265											
KCND3	3752	broad.mit.edu	37	chr1	112524371	112524371	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatggccatggtgagggaGaagagaagaaagcccagttc	14	6	15	6	0	0	5	0	2	0	3	1	7	0	5	2	3	1	1	2	3	3	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:112524371G>A	ENST00000369697.1	-	1	1047	c.978C>T	c.(976-978)ttC>ttT	p.F326F	KCND3_ENST00000302127.4_Silent_p.F326F|KCND3_ENST00000315987.2_Silent_p.F326F			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	326						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGGTGAGGGAGAAGAGAAGAA	0.552													9	47					0	0	0	0	A	112524371	G	A	112524371	2	1	172	1	0	0	0	0	0	0	0	1	8073	933	33	2		2	KCND3	1	112524371	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1770051	112524371	136726250	18	30266											
AP4B1	10717	broad.mit.edu	37	chr1	114442908	114442908	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacctgggctactgctcttGaggaaactatccaacagatt	12	10	8	11	0	1	2	0	1	1	1	2	3	2	3	2	2	4	2	2	2	4	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:114442908G>C	ENST00000369569.1	-	5	1012	c.732C>G	c.(730-732)ctC>ctG	p.L244L	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Silent_p.L76L|AP4B1_ENST00000369566.3_Silent_p.L151L|AP4B1_ENST00000256658.4_Silent_p.L244L	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	244					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTGCTCTTGAGGAAACTAT	0.473													5	56					0	0	0	0	C	114442908	G	C	114442908	2	2	172	1	0	0	0	0	0	0	0	1	752	1277	45	2		2	AP4B1	1	114442908	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1918537	114442908	134807713	19	30267											
FAM46C	54855	broad.mit.edu	37	chr1	118166279	118166279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccacagaccaggaagaaatCaaaactctagagcgctacat	17	5	7	12	1	2	3	1	0	1	3	2	4	2	4	2	1	3	1	2	1	6	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:118166279C>G	ENST00000369448.3	+	2	1036	c.789C>G	c.(787-789)atC>atG	p.I263M		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	263										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AGGAAGAAATCAAAACTCTAG	0.507			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			14	38					0	0	0	0	G	118166279	C	G	118166279	3	3	172	1	0	0	0	0	1	0	0	0	5614	816	29	2	791	2	FAM46C	1	118166279	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3723371	118166279	131084342	20	30268											
PDE4DIP	9659	broad.mit.edu	37	chr1	144952223	144952223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccctctgggccagggcctCagtgtattggtcgggcttga	4	11	15	11	1	2	1	1	1	1	0	4	1	3	1	3	4	0	2	3	4	1	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:144952223C>T	ENST00000369359.4	-	7	945	c.907G>A	c.(907-909)Gag>Aag	p.E303K	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E303K|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.E166K|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.E303K|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E166K|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E166K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E166K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E166K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E232K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	166					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCAGGGCCTCAGTGTATTGG	0.522			T	PDGFRB	MPD								15	157					0	0	0	0	T	144952223	C	T	144952223	3	4	172	1	0	0	0	0	1	0	0	0	11714	835	29	2	7851	2	PDE4DIP	1	144952223	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	26785944	144952223	104298398	21	30269											
RPRD2	23248	broad.mit.edu	37	chr1	150437148	150437148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtggagatcaccccagaGagcattctgtctgcactttc	10	10	10	11	0	3	2	1	0	2	2	4	4	3	2	2	2	2	2	2	2	1	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:150437148G>C	ENST00000401000.4	+	9	1544	c.1479G>C	c.(1477-1479)gaG>gaC	p.E493D	RPRD2_ENST00000369068.4_Missense_Mutation_p.E519D|RPRD2_ENST00000539519.1_Missense_Mutation_p.E493D|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	519	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCACCCCAGAGAGCATTCTGT	0.517											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	19					0	0	0	0	C	150437148	G	C	150437148	3	2	172	1	0	0	0	0	1	0	0	0	13702	933	33	2	1595	2	RPRD2	1	150437148	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	5484925	150437148	98813473	22	30270											
GOLPH3L	55204	broad.mit.edu	37	chr1	150636160	150636160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgggggttccagatagattCgaccccgcatggccagctct	7	9	12	13	3	1	2	0	0	1	2	4	3	2	2	4	3	1	3	4	3	1	3	rs150623963		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:150636160C>T	ENST00000271732.3	-	3	307	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	GOLPH3L_ENST00000540514.1_Intron	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	88						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CAGATAGATTCGACCCCGCAT	0.502													23	61					0	0	0	0	T	150636160	C	T	150636160	3	4	172	1	0	0	0	0	1	0	0	0	6617	884	31	1	606	1	GOLPH3L	1	150636160	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	199012	150636160	98614461	23	30271											
FLG	2312	broad.mit.edu	37	chr1	152277823	152277823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagcttcatggtgacgtGacactgagtgcctggagctg	8	10	15	8	1	1	3	1	3	0	0	1	5	1	5	1	3	3	2	1	3	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:152277823G>A	ENST00000368799.1	-	3	9574	c.9539C>T	c.(9538-9540)tCa>tTa	p.S3180L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3180	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACGTGACACTGAGTG	0.562									Ichthyosis				100	139					0	0	0	0	A	152277823	G	A	152277823	3	1	172	1	0	0	0	0	1	0	0	0	5967	1294	45	2	2650	2	FLG	1	152277823	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1641663	152277823	96972798	24	30272											
FLG2	388698	broad.mit.edu	37	chr1	152327870	152327870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattgacttgagcctgaccCatgttgtccaaagccagatg	10	10	11	10	0	0	4	0	3	0	1	1	5	1	5	4	1	2	1	4	1	1	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:152327870C>T	ENST00000388718.5	-	3	2464	c.2392G>A	c.(2392-2394)Ggg>Agg	p.G798R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	798	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCTGACCCATGTTGTCCA	0.522													44	417					0	0	0	0	T	152327870	C	T	152327870	3	4	172	1	0	0	0	0	1	0	0	0	5968	594	21	4	4787	4	FLG2	1	152327870	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	50047	152327870	96922751	25	30273											
CLK2	1196	broad.mit.edu	37	chr1	155238104	155238104	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcgatggtcaacacattgTacaactcggccgaaggtccc	10	8	10	13	3	1	0	1	0	0	0	3	2	2	0	2	3	4	1	2	3	4	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:155238104T>C	ENST00000368361.4	-	5	849	c.534A>G	c.(532-534)gtA>gtG	p.V178V	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.V177V|CLK2_ENST00000536801.1_Silent_p.V178V|CLK2_ENST00000355560.4_Silent_p.V176V			P49760	CLK2_HUMAN	CDC-like kinase 2	178	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAACACATTGTACAACTCGGC	0.502								Other conserved DNA damage response genes					15	51					0	0	0	0	C	155238104	T	C	155238104	2	2	172	1	0	0	0	0	0	0	0	1	3567	1625	57	5		5	CLK2	1	155238104	Silent	SNP	T	TCGA-CR-5248-01A-01D-2012-08	2910234	155238104	94012517	26	30274											
RUSC1	23623	broad.mit.edu	37	chr1	155292421	155292421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacacaagaataactgattCtggctcgaaaacagatgcag	17	7	8	9	1	1	3	0	1	1	2	2	4	1	3	0	1	4	2	0	1	6	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:155292421C>G	ENST00000368352.5	+	2	1008	c.857C>G	c.(856-858)tCt>tGt	p.S286C	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.S286C	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	286						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			ATAACTGATTCTGGCTCGAAA	0.478													36	120					0	0	0	0	G	155292421	C	G	155292421	3	3	172	1	0	0	0	0	1	0	0	0	13835	913	32	2	859	2	RUSC1	1	155292421	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	54317	155292421	93958200	27	30275											
DAP3	7818	broad.mit.edu	37	chr1	155699156	155699156	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagagaagataaaagccCggtaggaaaactgggtgtct	17	6	13	5	1	1	2	0	0	1	2	1	5	1	3	1	3	2	1	1	3	8	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:155699156C>G	ENST00000368336.5	+	9	966	c.843_splice	c.e9+1	p.P281_splice	DAP3_ENST00000421487.2_Splice_Site_p.P247_splice|DAP3_ENST00000471214.1_3'UTR|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Splice_Site_p.P281_splice|DAP3_ENST00000535183.1_Splice_Site_p.P240_splice	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	281					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GATAAAAGCCCGGTAGGAAAA	0.438													18	59					0	0	0	0	G	155699156	C	G	155699156	5	3	172	1	0	0	0	0	0	0	1	0	4267	666	23	3	872	3	DAP3	1	155699156	Splice_Site	SNP	C	TCGA-CR-5248-01A-01D-2012-08	406735	155699156	93551465	28	30276											
IGSF9	57549	broad.mit.edu	37	chr1	159912846	159912846	+	Frame_Shift_Del	DEL	G	G	-																															cagccactcgatgacatgcaGggggggccggccggccgggg																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:159912846delG	ENST00000368094.1	-	3	351	c.154delC	c.(154-156)tgfs	p.L52fs	IGSF9_ENST00000361509.3_Frame_Shift_Del_p.L52fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	52	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGACATGCAgggggggccgg	0.637													10	61	---	---	---	---					-	159912846	G	-	159912846	7	5	172	1	0	1	0	1	0	0	0	0	7658	991	35	0	3461	0	IGSF9	1	159912846	Frame_Shift_Del	DEL	G	TCGA-CR-5248-01A-01D-2012-08	4213690	159912846	89337775	29	30277											
HSPA6	3310	broad.mit.edu	37	chr1	161494658	161494658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aacccccacaacaccgtgttCgatgccaagcggctgatcgg	10	6	10	15	4	0	1	0	1	0	0	2	2	0	1	4	2	4	2	4	2	3	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:161494658C>G	ENST00000309758.4	+	1	623	c.210C>G	c.(208-210)ttC>ttG	p.F70L		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	70					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACACCGTGTTCGATGCCAAGC	0.687													8	28					0	0	0	0	G	161494658	C	G	161494658	3	3	172	1	0	0	0	0	1	0	0	0	7467	883	31	3	212	3	HSPA6	1	161494658	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1581812	161494658	87755963	30	30278											
POGK	57645	broad.mit.edu	37	chr1	166819358	166819358	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgtggtctacaagccactGaatgacagtgtgcgggccca	9	8	13	11	2	1	2	0	2	1	0	2	2	1	2	2	2	3	0	2	2	3	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:166819358G>C	ENST00000367875.1	+	5	1902	c.1542G>C	c.(1540-1542)ctG>ctC	p.L514L	POGK_ENST00000536514.1_Silent_p.L429L|POGK_ENST00000537173.1_Silent_p.L396L|POGK_ENST00000367876.4_Silent_p.L514L			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	514	DDE.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						acaagccactgaatgacagtg	0.567													4	12					0	0	0	0	C	166819358	G	C	166819358	2	2	172	1	0	0	0	0	0	0	0	1	12257	1277	45	2		2	POGK	1	166819358	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	5324700	166819358	82431263	31	30279											
TBX19	9095	broad.mit.edu	37	chr1	168260635	168260635	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcagcaaagtgaagctGaccaacaagctcaatggagg	14	7	10	10	0	2	2	2	2	0	0	3	3	3	3	2	2	4	3	2	2	5	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:168260635G>T	ENST00000367821.3	+	2	492	c.441G>T	c.(439-441)ctG>ctT	p.L147L		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	147					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					AAGTGAAGCTGACCAACAAGC	0.587													6	138					3.59834e-05	6.14853e-05	1	0	T	168260635	G	T	168260635	2	4	172	1	0	0	0	0	0	0	0	1	15748	1277	45	2		2	TBX19	1	168260635	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1441277	168260635	80989986	32	30280											
TNN	63923	broad.mit.edu	37	chr1	175046766	175046766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcagtgacgatggggcttCgctcttggccctgggggagg	4	9	17	11	2	2	1	1	1	1	0	3	3	2	2	2	6	0	2	2	6	0	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:175046766C>T	ENST00000239462.4	+	2	325	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	71					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GATGGGGCTTCGCTCTTGGCC	0.587													10	33					0	0	0	0	T	175046766	C	T	175046766	3	4	172	1	0	0	0	0	1	0	0	0	16417	893	31	1	214	1	TNN	1	175046766	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	6786131	175046766	74203855	33	30281											
KCNT2	343450	broad.mit.edu	37	chr1	196309572	196309572	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttggtttttaaatgctGaattctcttctttggtaata	8	20	8	5	0	3	1	0	1	3	0	4	1	3	1	0	3	1	3	0	3	5	9			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:196309572G>T	ENST00000367433.5	-	16	1783	c.1682C>A	c.(1681-1683)tCa>tAa	p.S561*	KCNT2_ENST00000294725.8_Nonsense_Mutation_p.S561*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.S511*|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.S172*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	561						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.S561L(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTAAATGCTGAATTCTCTTC	0.358													8	37					3.09899e-07	5.40689e-07	1	0	T	196309572	G	T	196309572	4	4	172	1	0	0	0	0	0	1	0	0	8145	1294	45	2	1777	2	KCNT2	1	196309572	Nonsense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	21262806	196309572	52941049	34	30282											
LGR6	59352	broad.mit.edu	37	chr1	202245595	202245595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgaccctggccctcaaccGcatcagccacatccccgact	9	6	6	20	2	2	1	2	1	0	0	3	2	3	1	6	1	2	1	6	1	1	0	rs142083498		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:202245595G>A	ENST00000367278.3	+	5	679	c.590G>A	c.(589-591)cGc>cAc	p.R197H	LGR6_ENST00000255432.7_Missense_Mutation_p.R145H|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	197						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCCCTCAACCGCATCAGCCAC	0.637													9	33					0	0	0	0	A	202245595	G	A	202245595	3	1	172	1	0	0	0	0	1	0	0	0	8812	1087	38	1	755	1	LGR6	1	202245595	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	5936023	202245595	47005026	35	30283											
G0S2	50486	broad.mit.edu	37	chr1	209849324	209849324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccgggccctgtccaacCggcagcacgcctcctaggaa	7	4	13	17	4	0	0	0	0	0	0	2	1	2	1	6	4	2	2	6	4	3	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:209849324C>T	ENST00000367029.4	+	2	457	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1switch 2	99					cell cycle					large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		CCTGTCCAACCGGCAGCACGC	0.662													9	30					0	0	0	0	T	209849324	C	T	209849324	3	4	172	1	0	0	0	0	1	0	0	0	6187	643	23	1	297	1	G0S2	1	209849324	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	7603729	209849324	39401297	36	30284											
OR2L8	391190	broad.mit.edu	37	chr1	248112521	248112521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatctatggcctatgatcGttacattgctatttgctttc	7	17	8	9	1	1	1	0	1	1	0	3	1	1	1	1	2	3	4	1	2	4	7	rs148005952	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:248112521G>A	ENST00000357191.3	+	1	362	c.362G>A	c.(361-363)cGt>cAt	p.R121H	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R121L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCCTATGATCGTTACATTGCT	0.443													38	153					0	0	0	0	A	248112521	G	A	248112521	3	1	172	1	0	0	0	0	1	0	0	0	11080	1145	40	1	364	1	OR2L8	1	248112521	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	38263197	248112521	1138100	37	30285											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10917766	10917766	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccttcccggaccacaaggTtaaggtaaccccgctaggta	11	7	9	14	2	0	0	0	0	0	0	1	1	1	1	5	4	1	4	5	4	5	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:10917766T>C	ENST00000272238.4	+	11	990	c.881T>C	c.(880-882)gTt>gCt	p.V294A	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	294					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GACCACAAGGTTAAGGTAACC	0.512													17	55					0	0	0	0	C	10917766	T	C	10917766	3	2	172	1	0	0	0	0	1	0	0	0	1185	1725	60	5	919	5	ATP6V1C2	2	10917766	Missense_Mutation	SNP	T	TCGA-CR-5248-01A-01D-2012-08		10917766	232281607	38	30286											
APOB	338	broad.mit.edu	37	chr2	21231537	21231537	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaattctggtatgtgaaggtCaggaacttgaaaatcattaa	15	12	10	4	0	3	2	2	2	1	0	3	4	3	3	0	3	1	1	0	3	7	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:21231537C>G	ENST00000233242.1	-	26	8330	c.8203G>C	c.(8203-8205)Gac>Cac	p.D2735H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2735				Missing (in Ref. 15; AAA51758).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGTGAAGGTCAGGAACTTGA	0.418													22	116					0	0	0	0	G	21231537	C	G	21231537	3	3	172	1	0	0	0	0	1	0	0	0	787	826	29	2	5504	2	APOB	2	21231537	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	10313771	21231537	221967836	39	30287											
GTF3C2	2976	broad.mit.edu	37	chr2	27559195	27559195	+	Frame_Shift_Del	DEL	C	C	-																															cacatattgcgaggctcctgCcccctctggcactgggcacc																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:27559195delC	ENST00000359541.2	-	8	1654	c.1225delG	c.(1225-1227)cafs	p.A409fs	AC109828.1_ENST00000585326.1_RNA|GTF3C2_ENST00000264720.3_Frame_Shift_Del_p.A409fs|AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000416453.2_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	409						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGCTCCTGCCCCCTCTGGC	0.592													8	128	---	---	---	---					-	27559195	C	-	27559195	7	5	172	1	0	1	0	1	0	0	0	0	6923	739	26	0	1558	0	GTF3C2	2	27559195	Frame_Shift_Del	DEL	C	TCGA-CR-5248-01A-01D-2012-08	6327658	27559195	215640178	40	30288											
THUMPD2	80745	broad.mit.edu	37	chr2	39997221	39997221	+	Missense_Mutation	SNP	C	C	T																															attcaaccaacttcctggatCttcatttataagtctttgca																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:39997221C>T	ENST00000505747.1	-	3	328	c.301G>A	c.(301-303)Gat>Aat	p.D101N	THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000454352.2_Missense_Mutation_p.D71N|THUMPD2_ENST00000260619.6_Missense_Mutation_p.D71N	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	101							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CTTCCTGGATCTTCATTTATA	0.289													5	36					0	0	0	0	T	39997221	C	T	39997221	3	4	172	1	0	0	0	0	1	0	0	0	15977	913	32	2	1242	2	THUMPD2	2	39997221	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	12438026	39997221	203202152	41	30289	233	2									
THUMPD2	80745	broad.mit.edu	37	chr2	39997224	39997224	+	Missense_Mutation	SNP	C	C	T																															caaccaacttcctggatcttCatttataagtctttgcattt																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:39997224C>T	ENST00000505747.1	-	3	325	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000454352.2_Missense_Mutation_p.E70K|THUMPD2_ENST00000260619.6_Missense_Mutation_p.E70K	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	100							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CCTGGATCTTCATTTATAAGT	0.299													5	35					0	0	0	0	T	39997224	C	T	39997224	3	4	172	1	0	0	0	0	1	0	0	0	15977	835	29	2	1245	2	THUMPD2	2	39997224	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3	39997224	203202149	42	30290	233	2									
ZFP36L2	678	broad.mit.edu	37	chr2	43451806	43451806	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggcggcaaagttgtgggtCtggatggcgagcggcgtgat	7	8	19	7	5	1	1	0	1	1	0	1	3	1	2	0	6	1	2	0	6	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:43451806C>T	ENST00000282388.3	-	2	1430	c.1137G>A	c.(1135-1137)caG>caA	p.Q379Q	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	379					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				AGTTGTGGGTCTGGATGGCGA	0.751													6	14					0	0	0	0	T	43451806	C	T	43451806	2	4	172	1	0	0	0	0	0	0	0	1	17742	912	32	2		2	ZFP36L2	2	43451806	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3454582	43451806	199747567	43	30291											
SOCS5	9655	broad.mit.edu	37	chr2	46986960	46986960	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatccctgcatgcccgaattGagcagtggaatcacaacttt	11	10	9	11	1	1	1	1	1	0	0	2	4	2	2	2	1	4	2	2	1	3	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:46986960G>C	ENST00000306503.5	+	2	1463	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	SOCS5_ENST00000394861.2_Missense_Mutation_p.E431Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	431	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TGCCCGAATTGAGCAGTGGAA	0.493													32	87					0	0	0	0	C	46986960	G	C	46986960	3	2	172	1	0	0	0	0	1	0	0	0	15005	1291	45	2	1293	2	SOCS5	2	46986960	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	3535154	46986960	196212413	44	30292											
NRXN1	9378	broad.mit.edu	37	chr2	50765639	50765639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catagttgagcagagcagtcCacacctcggtggggaagaca	12	6	13	10	1	0	3	0	1	0	2	2	4	1	4	2	3	2	3	2	3	2	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:50765639C>A	ENST00000404971.1	-	11	3354	c.2015G>T	c.(2014-2016)tGg>tTg	p.W672L	NRXN1_ENST00000402717.3_Missense_Mutation_p.W624L|NRXN1_ENST00000406859.3_Missense_Mutation_p.W632L|NRXN1_ENST00000406316.2_Missense_Mutation_p.W632L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.W624L|NRXN1_ENST00000401669.2_Missense_Mutation_p.W632L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	632	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAGAGCAGTCCACACCTCGGT	0.517													15	186					1.05317e-09	1.85487e-09	1	0	A	50765639	C	A	50765639	3	1	172	1	0	0	0	0	1	0	0	0	10736	595	21	4	2947	4	NRXN1	2	50765639	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3778679	50765639	192433734	45	30293											
SMEK2	57223	broad.mit.edu	37	chr2	55792169	55792169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatgggcagtaagagacttGatatcttcctgtataagcac	13	12	9	7	0	1	2	0	1	1	1	2	3	2	2	1	1	1	4	1	1	5	7			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:55792169G>C	ENST00000272313.5	-	12	2016	c.1689C>G	c.(1687-1689)atC>atG	p.I563M	SMEK2_ENST00000345102.5_Missense_Mutation_p.I648M|SMEK2_ENST00000407823.3_Missense_Mutation_p.I616M	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	648						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAAGAGACTTGATATCTTCCT	0.279													2	9					0	0	0	0	C	55792169	G	C	55792169	3	2	172	1	0	0	0	0	1	0	0	0	14882	1280	45	2	621	2	SMEK2	2	55792169	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	5026530	55792169	187407204	46	30294											
SMEK2	57223	broad.mit.edu	37	chr2	55806911	55806911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttagaaattcacttttttCggttttctgaaacatagaat	13	18	5	5	1	2	3	1	1	1	2	3	3	2	3	0	1	1	1	0	1	5	9			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:55806911C>T	ENST00000272313.5	-	9	1699	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	SMEK2_ENST00000345102.5_Missense_Mutation_p.E458K|SMEK2_ENST00000407823.3_Missense_Mutation_p.E458K	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	458						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCACTTTTTTCGGTTTTCTGA	0.308													10	25					0	0	0	0	T	55806911	C	T	55806911	3	4	172	1	0	0	0	0	1	0	0	0	14882	893	31	1	1213	1	SMEK2	2	55806911	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	14742	55806911	187392462	47	30295											
APLF	200558	broad.mit.edu	37	chr2	68805097	68805097	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggaaaggaagatgaagaGaaggaagatgtggaagagct	18	4	16	3	0	0	5	0	1	0	4	0	10	0	9	1	4	1	1	1	4	6	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:68805097G>C	ENST00000303795.4	+	10	1650	c.1479G>C	c.(1477-1479)gaG>gaC	p.E493D	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	493					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						AAGATGAAGAGAAGGAAGATG	0.373													9	36					0	0	0	0	C	68805097	G	C	68805097	3	2	172	1	0	0	0	0	1	0	0	0	777	933	33	2	1517	2	APLF	2	68805097	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	12998186	68805097	174394276	48	30296											
ANKRD53	79998	broad.mit.edu	37	chr2	71211740	71211740	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtgccctctgttgttgcaGaaagagcacaaaattctcag	11	12	9	9	0	2	2	1	0	2	2	3	2	2	2	1	0	3	4	1	0	3	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:71211740G>C	ENST00000272421.6	+	7	1296		c.e7-1		AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000457410.1_Splice_Site|ANKRD53_ENST00000360589.3_Splice_Site|ANKRD53_ENST00000441349.1_Splice_Site	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53											endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						TGTTGTTGCAGAAAGAGCACA	0.547											OREG0014687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	99					0	0	0	0	C	71211740	G	C	71211740	5	2	172	1	0	0	0	0	0	0	1	0	678	956	33	2	1056	2	ANKRD53	2	71211740	Splice_Site	SNP	G	TCGA-CR-5248-01A-01D-2012-08	2406643	71211740	171987633	49	30297											
MPHOSPH10	10199	broad.mit.edu	37	chr2	71360440	71360440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaagccccgttttcagtGatgaggattctgaccttgac	10	11	11	9	1	2	4	1	4	1	0	2	6	2	6	3	2	1	1	3	2	2	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:71360440G>A	ENST00000244230.2	+	2	854	c.502G>A	c.(502-504)Gat>Aat	p.D168N	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.D168N	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	168					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						CGTTTTCAGTGATGAGGATTC	0.443													7	70					0	0	0	0	A	71360440	G	A	71360440	3	1	172	1	0	0	0	0	1	0	0	0	9795	1290	45	2	508	2	MPHOSPH10	2	71360440	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	148700	71360440	171838933	50	30298											
FER1L5	90342	broad.mit.edu	37	chr2	97363189	97363189	+	RNA	DEL	C	C	-																															cagggaagctctggcctcaaCccccctctcctctctgaagt																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:97363189delC	ENST00000457909.1	+	0	3586							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CTGGCCTCAACCCCCCTCTCC	0.517													4	8	---	---	---	---					-	97363189	C	-	97363189	6	5	172	0	1	1	0	1	0	0	0	0	5859	522	18	0		0	FER1L5	2	97363189	RNA	DEL	C	TCGA-CR-5248-01A-01D-2012-08	26002749	97363189	145836184	51	30299											
AFF3	3899	broad.mit.edu	37	chr2	100625344	100625344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgttgagtttcttgatttCttctttctcgttctttcctc	2	23	5	11	1	5	2	0	2	5	0	8	2	6	2	2	0	0	3	2	0	0	8			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:100625344C>T	ENST00000317233.4	-	4	339	c.104G>A	c.(103-105)aGa>aAa	p.R35K	AFF3_ENST00000409579.1_Missense_Mutation_p.R60K|AFF3_ENST00000356421.2_Missense_Mutation_p.R60K|AFF3_ENST00000409236.1_Missense_Mutation_p.R35K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	35					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTCTTGATTTCTTCTTTCTCG	0.393													4	22					0	0	0	0	T	100625344	C	T	100625344	3	4	172	1	0	0	0	0	1	0	0	0	358	913	32	2	3660	2	AFF3	2	100625344	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3262155	100625344	142574029	52	30300											
POTEF	728378	broad.mit.edu	37	chr2	130877784	130877784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaggggaagcagtggcagCaccacttgcccatcttgttc	9	8	12	12	0	1	0	0	0	1	0	2	1	1	1	2	3	4	5	2	3	1	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:130877784C>T	ENST00000357462.5	-	1	398	c.305G>A	c.(304-306)tGc>tAc	p.C102Y	POTEF_ENST00000409914.2_Missense_Mutation_p.C102Y|POTEF_ENST00000360967.5_Missense_Mutation_p.C102Y|POTEF_ENST00000361163.4_Missense_Mutation_p.C102Y			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	102						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCAGTGGCAGCACCACTTGCC	0.607													36	258					0	0	0	0	T	130877784	C	T	130877784	3	4	172	1	0	0	0	0	1	0	0	0	12337	710	25	4	2982	4	POTEF	2	130877784	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	30252440	130877784	112321589	53	30301											
LRP1B	53353	broad.mit.edu	37	chr2	142004806	142004806	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataacttaccaattttagccTtgcaagatctgttgtctggc	10	15	7	9	0	2	1	0	0	2	1	2	1	2	1	2	1	4	2	2	1	5	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:142004806T>C	ENST00000389484.3	-	5	1552	c.581A>G	c.(580-582)aAg>aGg	p.K194R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	194	EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATTTTAGCCTTGCAAGATCT	0.383										TSP Lung(27;0.18)			7	50					0	0	0	0	C	142004806	T	C	142004806	3	2	172	1	0	0	0	0	1	0	0	0	9019	1609	56	5	13566	5	LRP1B	2	142004806	Missense_Mutation	SNP	T	TCGA-CR-5248-01A-01D-2012-08	11127022	142004806	101194567	54	30302											
WDSUB1	151525	broad.mit.edu	37	chr2	160104982	160104982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaaccttggtcctgagctCttcaattttcctcagcactt	7	17	5	12	0	3	1	2	1	1	0	5	1	5	1	3	1	3	2	3	1	2	7			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:160104982C>T	ENST00000409990.3	-	10	1430	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	WDSUB1_ENST00000409124.1_Intron|WDSUB1_ENST00000358147.4_Missense_Mutation_p.E300K|WDSUB1_ENST00000392796.3_Missense_Mutation_p.E392K|WDSUB1_ENST00000359774.4_Missense_Mutation_p.E392K	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	392	SAM.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GTCCTGAGCTCTTCAATTTTC	0.388													7	53					0	0	0	0	T	160104982	C	T	160104982	3	4	172	1	0	0	0	0	1	0	0	0	17437	922	32	2	264	2	WDSUB1	2	160104982	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	18100176	160104982	83094391	55	30303											
KCNH7	90134	broad.mit.edu	37	chr2	163253401	163253401	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctcttacatctgcattaGactttccaggtttggcataa	9	14	9	9	0	2	1	0	0	2	1	3	1	3	1	1	3	2	4	1	3	3	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:163253401G>C	ENST00000332142.5	-	11	2561	c.2462C>G	c.(2461-2463)tCt>tGt	p.S821C		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	821					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATCTGCATTAGACTTTCCAGG	0.373													15	31					0	0	0	0	C	163253401	G	C	163253401	3	2	172	1	0	0	0	0	1	0	0	0	8090	942	33	2	1152	2	KCNH7	2	163253401	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	3148419	163253401	79945972	56	30304											
SCN3A	6328	broad.mit.edu	37	chr2	165986604	165986604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtcgttcatgtgccacCgtgggagcgtacagtcatca	10	9	12	10	3	3	1	3	0	0	1	4	2	3	2	2	1	3	2	2	1	2	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:165986604C>T	ENST00000360093.3	-	17	3259	c.2768G>A	c.(2767-2769)cGg>cAg	p.R923Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.R874Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.R923Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	923						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CATGTGCCACCGTGGGAGCGT	0.512													49	179					0	0	0	0	T	165986604	C	T	165986604	3	4	172	1	0	0	0	0	1	0	0	0	14005	652	23	1	3282	1	SCN3A	2	165986604	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	2733203	165986604	77212769	57	30305											
HOXD8	3234	broad.mit.edu	37	chr2	176996323	176996323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctggaggaagacagagccGaaggcctgacaaattaactt	15	6	12	8	1	0	3	0	1	0	2	0	6	0	5	2	3	3	1	2	3	4	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:176996323G>A	ENST00000313173.4	+	2	1483	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	HOXD8_ENST00000450510.2_Missense_Mutation_p.E285K|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000429017.1_Missense_Mutation_p.E102K|HOXD8_ENST00000544999.1_Missense_Mutation_p.E285K|HOXD8_ENST00000548663.1_Missense_Mutation_p.E182K	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	286					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AGACAGAGCCGAAGGCCTGAC	0.423													12	29					0	0	0	0	A	176996323	G	A	176996323	3	1	172	1	0	0	0	0	1	0	0	0	7375	1059	37	1	862	1	HOXD8	2	176996323	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	11009719	176996323	66203050	58	30306											
TTN	7273	broad.mit.edu	37	chr2	179403892	179403892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgactctagaaccaccatCatctttgggccgggaccagg	9	9	11	12	1	3	2	1	1	2	1	3	3	3	3	4	3	1	0	4	3	2	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:179403892C>T	ENST00000589042.1	-	353	98994	c.98770G>A	c.(98770-98772)Gat>Aat	p.D32924N	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30356N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D23859N|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D24051N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D23984N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D31283N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31283							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)			GAACCACCATCATCTTTGGGC	0.468													16	60					0	0	0	0	T	179403892	C	T	179403892	3	4	172	1	0	0	0	0	1	0	0	0	16831	826	29	2	9249	2	TTN	2	179403892	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	2407569	179403892	63795481	59	30307											
TTN	7273	broad.mit.edu	37	chr2	179554565	179554565	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgggggagcttcctttttCtttgcaacaggaacgggaat	8	12	13	8	1	1	0	0	0	1	0	2	3	2	3	1	4	4	3	1	4	3	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:179554565C>G	ENST00000589042.1	-	122	32045	c.31821G>C	c.(31819-31821)aaG>aaC	p.K10607N	TTN_ENST00000342992.6_Missense_Mutation_p.K9363N|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K10290N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10290	Glu-rich.|Pro-rich.						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)			CTTCCTTTTTCTTTGCAACAG	0.378													10	188					0	0	0	0	G	179554565	C	G	179554565	3	3	172	1	0	0	0	0	1	0	0	0	16831	912	32	2	72672	2	TTN	2	179554565	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	150673	179554565	63644808	60	30308											
TTN	7273	broad.mit.edu	37	chr2	179612368	179612368	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggtctctggtgtctttaGtttcaggaacctcacgcttt	5	16	9	11	1	4	0	2	0	2	0	5	1	4	1	2	3	1	2	2	3	2	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:179612368G>C	ENST00000360870.5	-	46	14981	c.14759C>G	c.(14758-14760)aCt>aGt	p.T4920S	TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1043	Ig-like 29.						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)			GGTGTCTTTAGTTTCAGGAAC	0.428													7	55					0	0	0	0	C	179612368	G	C	179612368	3	2	172	1	0	0	0	0	1	0	0	0	16831	1029	36	4	95538	4	TTN	2	179612368	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	57803	179612368	63587005	61	30309											
PLCL1	5334	broad.mit.edu	37	chr2	198950579	198950579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgataatcctatttttgatGaaacttttgagttccaagta	12	17	7	5	0	0	4	0	4	0	0	2	4	2	4	2	0	1	2	2	0	5	8			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:198950579G>A	ENST00000428675.1	+	2	2736	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E682K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	780	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TATTTTTGATGAAACTTTTGA	0.388													18	75					0	0	0	0	A	198950579	G	A	198950579	3	1	172	1	0	0	0	0	1	0	0	0	12111	1291	45	2	2344	2	PLCL1	2	198950579	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	19338211	198950579	44248794	62	30310											
BMPR2	659	broad.mit.edu	37	chr2	203397344	203397344	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatggcaccagaagtgctaGaaggagctgtgaacttgagg	13	8	14	6	0	0	4	0	2	0	2	0	5	0	5	1	3	3	3	1	3	5	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:203397344G>C	ENST00000374580.4	+	9	1704	c.1165G>C	c.(1165-1167)Gaa>Caa	p.E389Q	BMPR2_ENST00000374574.2_Missense_Mutation_p.E389Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	389	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGAAGTGCTAGAAGGAGCTGT	0.378													7	35					0	0	0	0	C	203397344	G	C	203397344	3	2	172	1	0	0	0	0	1	0	0	0	1476	943	33	2	1199	2	BMPR2	2	203397344	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	4446765	203397344	39802029	63	30311											
ANKZF1	55139	broad.mit.edu	37	chr2	220098917	220098917	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacactggaaaacagtaagaGaggagagaaagaagcctact	19	4	11	7	0	0	3	0	0	0	3	0	7	0	5	1	2	3	1	1	2	6	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:220098917G>C	ENST00000323348.5	+	9	1285	c.1111G>C	c.(1111-1113)Gag>Cag	p.E371Q	ANKZF1_ENST00000410034.3_Missense_Mutation_p.E371Q|ANKZF1_ENST00000409849.1_Missense_Mutation_p.E161Q	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	371						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACAGTAAGAGAGGAGAGAAA	0.458													11	31					0	0	0	0	C	220098917	G	C	220098917	3	2	172	1	0	0	0	0	1	0	0	0	692	943	33	2	1141	2	ANKZF1	2	220098917	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	16701573	220098917	23100456	64	30312											
ANKZF1	55139	broad.mit.edu	37	chr2	220098992	220098992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaagcgctggggcagaatGaggaatctcccaaacagggt	13	5	15	8	1	1	2	0	1	1	1	2	4	1	4	1	5	2	2	1	5	4	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:220098992G>A	ENST00000323348.5	+	9	1360	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	ANKZF1_ENST00000410034.3_Missense_Mutation_p.E396K|ANKZF1_ENST00000409849.1_Missense_Mutation_p.E186K	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	396						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCAGAATGAGGAATCTCC	0.438													24	67					0	0	0	0	A	220098992	G	A	220098992	3	1	172	1	0	0	0	0	1	0	0	0	692	1291	45	2	1216	2	ANKZF1	2	220098992	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	75	220098992	23100381	65	30313											
CHPF	79586	broad.mit.edu	37	chr2	220408002	220408002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggtagggcaagacgcGcggctcccaattctccccgg	7	6	15	13	4	1	1	0	0	1	1	3	1	2	1	3	5	0	3	3	5	3	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:220408002G>A	ENST00000243776.6	-	1	507	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	CHPF_ENST00000373891.2_Missense_Mutation_p.R87C	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	87						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCAAGACGCGCGGCTCCCAA	0.746													5	25					0	0	0	0	A	220408002	G	A	220408002	3	1	172	1	0	0	0	0	1	0	0	0	3397	1087	38	1	2084	1	CHPF	2	220408002	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	309010	220408002	22791371	66	30314											
CHPF	79586	broad.mit.edu	37	chr2	220408070	220408070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctccgctccgggctgcaccGagttgggccggcgcgccgcg	2	5	17	17	8	0	0	0	0	0	0	2	1	2	0	5	3	1	5	5	3	0	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:220408070G>A	ENST00000243776.6	-	1	439	c.191C>T	c.(190-192)tCg>tTg	p.S64L	CHPF_ENST00000373891.2_Missense_Mutation_p.S64L	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	64						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGGCTGCACCGAGTTGGGCCG	0.756													7	19					0	0	0	0	A	220408070	G	A	220408070	3	1	172	1	0	0	0	0	1	0	0	0	3397	1059	37	1	2152	1	CHPF	2	220408070	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	68	220408070	22791303	67	30315											
EPHA4	2043	broad.mit.edu	37	chr2	222428965	222428965	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctattgcagtccctcaaggtGaatttaatctcaatatacac	13	13	5	10	0	2	1	2	1	1	0	4	1	3	1	1	1	2	1	1	1	7	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:222428965G>A	ENST00000281821.2	-	3	350	c.309C>T	c.(307-309)ttC>ttT	p.F103F	EPHA4_ENST00000409854.1_Silent_p.F103F|EPHA4_ENST00000392071.4_Silent_p.F52F|EPHA4_ENST00000409938.1_Silent_p.F103F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	103						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)		CCCTCAAGGTGAATTTAATCT	0.473													19	87					0	0	0	0	A	222428965	G	A	222428965	2	1	172	1	0	0	0	0	0	0	0	1	5207	1281	45	2		2	EPHA4	2	222428965	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	2020895	222428965	20770408	68	30316											
GPR55	9290	broad.mit.edu	37	chr2	231774833	231774833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagcagaaaacatccaggCagcagttgacgttggagaaa	16	6	12	7	1	0	3	0	1	0	2	1	4	1	3	1	2	3	6	1	2	4	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:231774833C>T	ENST00000392040.1	-	2	1037	c.845G>A	c.(844-846)tGc>tAc	p.C282Y	GPR55_ENST00000392039.2_Missense_Mutation_p.C282Y	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	282					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AACATCCAGGCAGCAGTTGAC	0.512													24	80					0	0	0	0	T	231774833	C	T	231774833	3	4	172	1	0	0	0	0	1	0	0	0	6748	710	25	4	118	4	GPR55	2	231774833	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	9345868	231774833	11424540	69	30317											
B3GNT7	93010	broad.mit.edu	37	chr2	232262649	232262649	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggctgcgcccacgccCatggcctctcaggggcccca	5	6	13	17	2	1	0	1	0	1	0	2	1	1	0	5	4	1	1	5	4	0	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:232262649C>T	ENST00000287590.5	+	2	480	c.219C>T	c.(217-219)ccC>ccT	p.P73P	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	73					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGCCCACGCCCATGGCCTCTC	0.617													15	54					0	0	0	0	T	232262649	C	T	232262649	2	4	172	1	0	0	0	0	0	0	0	1	1266	581	21	4		4	B3GNT7	2	232262649	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	487816	232262649	10936724	70	30318											
DIS3L2	129563	broad.mit.edu	37	chr2	233164768	233164768	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctaaagcttgctttcactCtggaccacgagaccggattg	10	10	10	11	2	2	1	1	0	1	1	2	4	2	3	2	2	3	3	2	2	2	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:233164768C>G	ENST00000325385.7	+	14	1954	c.1678C>G	c.(1678-1680)Ctg>Gtg	p.L560V	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Missense_Mutation_p.L560V	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	560							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGCTTTCACTCTGGACCACGA	0.423													9	37					0	0	0	0	G	233164768	C	G	233164768	3	3	172	1	0	0	0	0	1	0	0	0	4574	912	32	2	1728	2	DIS3L2	2	233164768	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	902119	233164768	10034605	71	30319											
HES6	55502	broad.mit.edu	37	chr2	239148343	239148343	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgcagctcctgcaggctctCgttgatccgcgcgcgccgct	3	8	12	18	7	1	1	0	1	1	0	4	1	3	1	4	1	2	6	4	1	0	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:239148343C>G	ENST00000409160.3	-	2	259	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	HES6_ENST00000409002.3_Missense_Mutation_p.E43Q|HES6_ENST00000409356.1_Silent_p.T68T|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409182.1_Intron|HES6_ENST00000409574.1_Missense_Mutation_p.E43Q|HES6_ENST00000272937.5_Missense_Mutation_p.E43Q	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2	Q96HZ4	HES6_HUMAN	hes family bHLH transcription factor 6	43	Helix-loop-helix motif.				cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGCAGGCTCTCGTTGATCCGC	0.791													2	9					0	0	0	0	G	239148343	C	G	239148343	3	3	172	1	0	0	0	0	1	0	0	0	7120	893	31	3	559	3	HES6	2	239148343	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	5983575	239148343	4051030	72	30320											
LMCD1	29995	broad.mit.edu	37	chr3	8607273	8607273	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttctggaaggatggtgcAccctggtgcggccgccatta	7	10	13	11	2	1	0	0	0	1	0	1	2	1	2	3	5	3	1	3	5	3	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:8607273A>C	ENST00000157600.3	+	5	1111	c.879A>C	c.(877-879)gcA>gcC	p.A293A	LMCD1_ENST00000454244.1_Silent_p.A220A|LMCD1_ENST00000397386.3_Silent_p.A181A|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	293	LIM zinc-binding 1.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGGATGGTGCACCCTGGTGCG	0.632													8	18					0	0	0	0	C	8607273	A	C	8607273	2	2	172	1	0	0	0	0	0	0	0	1	8899	146	6	5		5	LMCD1	3	8607273	Silent	SNP	A	TCGA-CR-5248-01A-01D-2012-08		8607273	189415157	73	30321											
DAZL	1618	broad.mit.edu	37	chr3	16630195	16630195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttaagcattgcccgacttCttctaaagtgatgcactctt	10	15	6	10	1	3	1	0	1	3	0	3	2	3	1	1	0	3	2	1	0	3	7			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:16630195C>T	ENST00000250863.8	-	11	1207	c.920G>A	c.(919-921)aGa>aAa	p.R307K	DAZL_ENST00000399444.2_Missense_Mutation_p.R287K	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN	deleted in azoospermia-like	287					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						TGCCCGACTTCTTCTAAAGTG	0.343													4	127					0	0	0	0	T	16630195	C	T	16630195	3	4	172	1	0	0	0	0	1	0	0	0	4279	913	32	2	31	2	DAZL	3	16630195	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	8022922	16630195	181392235	74	30322											
RARB	5915	broad.mit.edu	37	chr3	25634998	25634998	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttttttccttccagattcTtagaatttgcaccaggtata	9	19	5	8	0	1	2	0	0	1	2	3	2	3	2	3	1	1	2	3	1	4	10			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:25634998T>G	ENST00000330688.4	+	6	1212	c.791T>G	c.(790-792)cTt>cGt	p.L264R	RARB_ENST00000404969.1_Missense_Mutation_p.L271R|RARB_ENST00000437042.2_Missense_Mutation_p.L152R|RARB_ENST00000462272.1_Intron|RARB_ENST00000458646.1_Missense_Mutation_p.L152R	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	271	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TTCCAGATTCTTAGAATTTGC	0.408													14	26					0	0	0	0	G	25634998	T	G	25634998	3	3	172	1	0	0	0	0	1	0	0	0	13135	1609	56	5	813	5	RARB	3	25634998	Missense_Mutation	SNP	T	TCGA-CR-5248-01A-01D-2012-08	9004803	25634998	172387432	75	30323											
CMTM8	152189	broad.mit.edu	37	chr3	32398904	32398904	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacgcttattgctggaactGagtacttccgggtccccgca	7	10	12	12	3	0	1	0	1	0	0	2	3	2	3	3	3	3	4	3	3	3	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:32398904G>C	ENST00000307526.3	+	2	481	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	CMTM8_ENST00000458535.2_Intron	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	63	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TGCTGGAACTGAGTACTTCCG	0.473													3	79					0	0	0	0	C	32398904	G	C	32398904	3	2	172	1	0	0	0	0	1	0	0	0	3619	1291	45	2	193	2	CMTM8	3	32398904	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	6763906	32398904	165623526	76	30324											
CRTAP	10491	broad.mit.edu	37	chr3	33171442	33171442	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtttcagatcattatgtaGaagttctggaatgcaaaata	14	15	8	4	0	3	2	2	0	1	2	3	3	3	3	0	1	1	4	0	1	7	6	rs137853945		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:33171442G>C	ENST00000320954.6	+	4	904	c.805G>C	c.(805-807)Gaa>Caa	p.E269Q	CRTAP_ENST00000485310.1_3'UTR|CRTAP_ENST00000449224.1_Intron	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	269						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TCATTATGTAGAAGTTCTGGA	0.373													4	49					0	0	0	0	C	33171442	G	C	33171442	3	2	172	1	0	0	0	0	1	0	0	0	3928	943	33	2	819	2	CRTAP	3	33171442	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	772538	33171442	164850988	77	30325											
GOLGA4	2803	broad.mit.edu	37	chr3	37367779	37367779	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaattgcagatccagcttGagttaaaatcaaaggaagct	17	9	9	6	0	1	3	1	1	0	2	2	4	2	4	1	1	3	4	1	1	6	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:37367779G>C	ENST00000361924.2	+	14	4776	c.4402G>C	c.(4402-4404)Gag>Cag	p.E1468Q	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1490Q|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1468	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATCCAGCTTGAGTTAAAATC	0.343													4	45					0	0	0	0	C	37367779	G	C	37367779	3	2	172	1	0	0	0	0	1	0	0	0	6606	1291	45	2	4526	2	GOLGA4	3	37367779	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	4196337	37367779	160654651	78	30326											
TDGF1	6997	broad.mit.edu	37	chr3	46620773	46620773	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggggatacctggccttcaGagatgacagcatttggcccc	8	9	12	12	1	1	2	1	1	0	1	2	4	1	3	4	4	2	1	4	4	1	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:46620773G>C	ENST00000296145.5	+	3	873	c.140G>C	c.(139-141)aGa>aCa	p.R47T	LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.R31T	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	47					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CTGGCCTTCAGAGATGACAGC	0.527													7	33					0	0	0	0	C	46620773	G	C	46620773	3	2	172	1	0	0	0	0	1	0	0	0	15820	942	33	2	150	2	TDGF1	3	46620773	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	9252994	46620773	151401657	79	30327											
MON1A	84315	broad.mit.edu	37	chr3	49948247	49948247	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcgccagctcttgtgcCgactgccgcgtacgagccac	5	8	11	17	5	1	0	0	0	1	0	2	2	2	0	5	0	6	2	5	0	1	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:49948247C>T	ENST00000417270.1	-	5	1401	c.708G>A	c.(706-708)tcG>tcA	p.S236S	CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000455683.2_Silent_p.S163S|MON1A_ENST00000296473.3_Silent_p.S325S			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	228							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCTCTTGTGCCGACTGCCGCG	0.582													7	19					0	0	0	0	T	49948247	C	T	49948247	2	4	172	1	0	0	0	0	0	0	0	1	9768	639	23	1		1	MON1A	3	49948247	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3327474	49948247	148074183	80	30328											
CISH	1154	broad.mit.edu	37	chr3	50645484	50645484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaacaggtagctggggtGcgtgctgtcacgtactaaga	9	9	15	8	3	1	2	1	1	0	1	1	2	1	2	0	3	5	4	0	3	4	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:50645484G>A	ENST00000443053.2	-	4	609	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	CISH_ENST00000348721.3_Missense_Mutation_p.H111Y	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	111	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TAGCTGGGGTGCGTGCTGTCA	0.567													14	37					0	0	0	0	A	50645484	G	A	50645484	3	1	172	1	0	0	0	0	1	0	0	0	3467	1319	46	4	449	4	CISH	3	50645484	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	697237	50645484	147376946	81	30329											
PHF7	51533	broad.mit.edu	37	chr3	52454998	52454998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagctgcatcttatgttgtGaagacttatcccaacagagt	13	12	8	8	0	1	3	0	1	1	2	2	3	2	3	1	0	3	3	1	0	5	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:52454998G>A	ENST00000327906.3	+	7	1153	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	PHF7_ENST00000478707.1_Missense_Mutation_p.E165K|PHF7_ENST00000347025.2_Missense_Mutation_p.E165K	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	165						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CTTATGTTGTGAAGACTTATC	0.493													32	80					0	0	0	0	A	52454998	G	A	52454998	3	1	172	1	0	0	0	0	1	0	0	0	11911	1291	45	2	515	2	PHF7	3	52454998	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1809514	52454998	145567432	82	30330											
OR5H6	79295	broad.mit.edu	37	chr3	97983934	97983934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctgtatctttatactatgGccccctcaccttcaaatatc	10	15	3	13	0	4	0	2	0	2	0	5	0	4	0	3	1	1	1	3	1	6	7			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:97983934G>A	ENST00000383696.2	+	1	847	c.806G>A	c.(805-807)gGc>gAc	p.G269D	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTATACTATGGCCCCCTCACC	0.398													13	49					0	0	0	0	A	97983934	G	A	97983934	3	1	172	1	0	0	0	0	1	0	0	0	11234	1203	42	4	808	4	OR5H6	3	97983934	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	45528936	97983934	100038496	83	30331											
ZBTB11	27107	broad.mit.edu	37	chr3	101373663	101373663	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaaaggtacttggactCtcctattagaaaaaattaaa	17	11	7	6	0	1	2	0	1	1	1	2	3	1	3	1	2	2	2	1	2	9	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:101373663C>A	ENST00000312938.4	-	8	2774	c.2194G>T	c.(2194-2196)Gag>Tag	p.E732*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACTTGGACTCTCCTATTAGA	0.423													5	54					0.000602214	0.00101735	1	0	A	101373663	C	A	101373663	4	1	172	1	0	0	0	0	0	1	0	0	17619	922	32	2	983	2	ZBTB11	3	101373663	Nonsense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3389729	101373663	96648767	84	30332											
ATP1B3	483	broad.mit.edu	37	chr3	141622545	141622545	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgggttatgcttcagactCtcaacgatgaggttccaaaa	11	12	10	8	1	2	2	2	1	1	1	4	3	3	2	1	2	2	3	1	2	4	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:141622545C>G	ENST00000539728.1	+	3	444	c.151C>G	c.(151-153)Ctc>Gtc	p.L51V	ATP1B3_ENST00000462082.1_Silent_p.L18L|ATP1B3_ENST00000286371.3_Missense_Mutation_p.L65V			P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	65					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						GCTTCAGACTCTCAACGATGA	0.373													12	110					0	0	0	0	G	141622545	C	G	141622545	3	3	172	1	0	0	0	0	1	0	0	0	1138	913	32	2	199	2	ATP1B3	3	141622545	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	40248882	141622545	56399885	85	30333											
HPS3	84343	broad.mit.edu	37	chr3	148858878	148858878	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctggaacttcttggtGaaaaaagtgaacagtctgga	13	9	11	8	0	2	2	0	2	2	0	2	4	2	4	2	3	3	0	2	3	5	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:148858878G>T	ENST00000296051.2	+	3	927	c.787G>T	c.(787-789)Gaa>Taa	p.E263*	HPS3_ENST00000460120.1_Nonsense_Mutation_p.E98*	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	263						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)			ACTTCTTGGTGAAAAAAGTGA	0.383									Hermansky-Pudlak syndrome				13	73					2.27111e-07	3.98112e-07	1	0	T	148858878	G	T	148858878	4	4	172	1	0	0	0	0	0	1	0	0	7390	1291	45	2	797	2	HPS3	3	148858878	Nonsense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	7236333	148858878	49163552	86	30334											
IGSF10	285313	broad.mit.edu	37	chr3	151154852	151154852	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatatagtttcctctgtcAtaagctgttgcttctttaat	9	18	6	8	0	3	1	1	0	2	1	4	1	4	1	1	0	2	4	1	0	4	8			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:151154852A>G	ENST00000282466.3	-	6	7496	c.7497T>C	c.(7495-7497)taT>taC	p.Y2499Y	IGSF10_ENST00000495443.1_5'UTR|MED12L_ENST00000474524.1_3'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2499	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCCTCTGTCATAAGCTGTTG	0.393													8	167					0	0	0	0	G	151154852	A	G	151154852	2	3	172	1	0	0	0	0	0	0	0	1	7650	224	8	5		5	IGSF10	3	151154852	Silent	SNP	A	TCGA-CR-5248-01A-01D-2012-08	2295974	151154852	46867578	87	30335											
LEKR1	389170	broad.mit.edu	37	chr3	156763471	156763471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatcctcccaggggtggaGcatcttcagcaaatgagact	11	8	10	12	0	2	1	1	1	1	1	4	3	4	2	2	3	2	2	2	3	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:156763471G>T	ENST00000470811.1	+	14	2434	c.1099G>T	c.(1099-1101)Gca>Tca	p.A367S	LEKR1_ENST00000356539.4_Missense_Mutation_p.A671S			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAGGGGTGGAGCATCTTCAGC	0.547													19	110					5.26018e-13	9.39768e-13	1	0	T	156763471	G	T	156763471	3	4	172	1	0	0	0	0	1	0	0	0	8770	971	34	4	2057	4	LEKR1	3	156763471	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	5608619	156763471	41258959	88	30336											
VEPH1	79674	broad.mit.edu	37	chr3	157146231	157146231	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctattaattggctgaggCtgcttttcatacacagcagg	9	14	10	8	0	2	1	1	1	1	0	2	1	2	1	0	3	3	4	0	3	3	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:157146231C>T	ENST00000362010.2	-	5	883	c.576G>A	c.(574-576)caG>caA	p.Q192Q	VEPH1_ENST00000392833.2_Silent_p.Q192Q|VEPH1_ENST00000543418.1_Silent_p.Q192Q|VEPH1_ENST00000392832.2_Silent_p.Q192Q	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	192						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTGGCTGAGGCTGCTTTTCAT	0.458													19	59					0	0	0	0	T	157146231	C	T	157146231	2	4	172	1	0	0	0	0	0	0	0	1	17250	796	28	4		4	VEPH1	3	157146231	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	382760	157146231	40876199	89	30337											
SLITRK3	22865	broad.mit.edu	37	chr3	164908029	164908029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaggtccaaatgggttaaaGagacagccttaaataaattg	16	10	10	5	0	0	1	0	0	0	1	1	2	1	1	2	2	1	2	2	2	8	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:164908029G>C	ENST00000475390.1	-	2	1033	c.590C>G	c.(589-591)tCt>tGt	p.S197C	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S197C			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	197						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATGGGTTAAAGAGACAGCCTT	0.413										HNSCC(40;0.11)			13	68					0	0	0	0	C	164908029	G	C	164908029	3	2	172	1	0	0	0	0	1	0	0	0	14832	942	33	2	2347	2	SLITRK3	3	164908029	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	7761798	164908029	33114401	90	30338											
EIF2B5	8893	broad.mit.edu	37	chr3	183861986	183861986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacttcttcctagagcatGaagctcttggtatttccatg	9	14	9	9	0	2	2	0	1	2	1	4	3	4	3	2	2	2	3	2	2	3	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:183861986G>A	ENST00000273783.3	+	14	2091	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	EIF2B5_ENST00000444495.1_Missense_Mutation_p.E657K	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	657	W2.				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCTAGAGCATGAAGCTCTTGG	0.502													30	171					0	0	0	0	A	183861986	G	A	183861986	3	1	172	1	0	0	0	0	1	0	0	0	5040	1291	45	2	2023	2	EIF2B5	3	183861986	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	18953957	183861986	14160444	91	30339											
FAM131A	131408	broad.mit.edu	37	chr3	184060556	184060556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagcagtttgccatcgCggaagccaagctccgagcat	9	7	13	12	3	0	1	0	1	0	0	2	3	1	2	3	2	5	5	3	2	2	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:184060556C>T	ENST00000310585.4	+	2	1804	c.440C>T	c.(439-441)gCg>gTg	p.A147V	FAM131A_ENST00000383847.2_Missense_Mutation_p.A178V|FAM131A_ENST00000450976.1_Missense_Mutation_p.A93V|FAM131A_ENST00000340957.5_Missense_Mutation_p.A93V|FAM131A_ENST00000453072.1_Missense_Mutation_p.A93V|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Missense_Mutation_p.A55V			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	147						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTTGCCATCGCGGAAGCCAAG	0.557													12	40					0	0	0	0	T	184060556	C	T	184060556	3	4	172	1	0	0	0	0	1	0	0	0	5480	768	27	1	551	1	FAM131A	3	184060556	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	198570	184060556	13961874	92	30340											
LPP	4026	broad.mit.edu	37	chr3	188327198	188327198	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttaatgtgcaggtgaagTcagcccagcccagccctcat	9	9	9	14	0	2	1	2	1	0	0	2	1	2	1	4	1	4	1	4	1	2	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:188327198T>G	ENST00000312675.4	+	6	925	c.679T>G	c.(679-681)Tca>Gca	p.S227A	LPP_ENST00000543006.1_Missense_Mutation_p.S227A|LPP_ENST00000448637.1_Missense_Mutation_p.S227A|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	227	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCAGGTGAAGTCAGCCCAGCC	0.562			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								11	92					0	0	0	0	G	188327198	T	G	188327198	3	3	172	1	0	0	0	0	1	0	0	0	8987	1667	58	5	693	5	LPP	3	188327198	Missense_Mutation	SNP	T	TCGA-CR-5248-01A-01D-2012-08	4266642	188327198	9695232	93	30341											
CPN2	1370	broad.mit.edu	37	chr3	194063020	194063020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caggtgctggaaaagaccctCgggcagagcctccagcatgt	10	6	13	12	1	0	2	0	0	0	2	2	3	1	3	3	3	3	3	3	3	2	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:194063020C>G	ENST00000323830.3	-	2	501	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	CPN2_ENST00000429275.1_Missense_Mutation_p.E138Q	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	138					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAAAGACCCTCGGGCAGAGCC	0.607													5	89					0	0	0	0	G	194063020	C	G	194063020	3	3	172	1	0	0	0	0	1	0	0	0	3840	893	31	3	1229	3	CPN2	3	194063020	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	5735822	194063020	3959410	94	30342											
PCGF3	10336	broad.mit.edu	37	chr4	728799	728799	+	Frame_Shift_Del	DEL	C	C	-																															attgtgatccaccagagccaCcccctgcagtacatcgggtg																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:728799delC	ENST00000362003.5	+	5	584	c.189delC	c.(187-189)cafs	p.H63fs	PCGF3_ENST00000470161.2_Frame_Shift_Del_p.H63fs|PCGF3_ENST00000505655.2_Frame_Shift_Del_p.H63fs|PCGF3_ENST00000521023.2_Frame_Shift_Del_p.H29fs	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding	p.L65fs*26(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						ACCAGAGCCACCCCCTGCAGT	0.607													11	27	---	---	---	---					-	728799	C	-	728799	7	5	172	1	0	1	0	1	0	0	0	0	11647	506	18	0	195	0	PCGF3	4	728799	Frame_Shift_Del	DEL	C	TCGA-CR-5248-01A-01D-2012-08		728799	190425477	95	30343											
SLIT2	9353	broad.mit.edu	37	chr4	20530585	20530585	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaataggtacagaagattaTcgatcaaaattaagtggaga	18	10	9	4	1	2	3	2	0	0	3	3	5	2	3	0	2	1	1	0	2	8	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:20530585T>C	ENST00000504154.1	+	16	1728	c.1476T>C	c.(1474-1476)taT>taC	p.Y492Y	SLIT2_ENST00000503837.1_Silent_p.Y488Y|SLIT2_ENST00000273739.5_Silent_p.Y496Y|SLIT2_ENST00000503823.1_Silent_p.Y484Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	492					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAGAAGATTATCGATCAAAAT	0.353													13	51					0	0	0	0	C	20530585	T	C	20530585	2	2	172	1	0	0	0	0	0	0	0	1	14828	1442	50	5		5	SLIT2	4	20530585	Silent	SNP	T	TCGA-CR-5248-01A-01D-2012-08	19801786	20530585	170623691	96	30344											
SEL1L3	23231	broad.mit.edu	37	chr4	25792177	25792177	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtatttcatcatcttttagtCtaattgtttcaacatatgcc	10	19	4	8	0	5	0	3	0	2	0	5	0	5	0	1	0	2	2	1	0	5	8			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:25792177C>G	ENST00000399878.3	-	12	2098	c.1976G>C	c.(1975-1977)aGa>aCa	p.R659T	SEL1L3_ENST00000264868.5_Missense_Mutation_p.R624T|SEL1L3_ENST00000502949.1_Missense_Mutation_p.R506T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	659						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATCTTTTAGTCTAATTGTTTC	0.443													13	41					0	0	0	0	G	25792177	C	G	25792177	3	3	172	1	0	0	0	0	1	0	0	0	14099	913	32	2	1474	2	SEL1L3	4	25792177	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	5261592	25792177	165362099	97	30345											
FRYL	285527	broad.mit.edu	37	chr4	48608509	48608509	+	Frame_Shift_Del	DEL	A	A	-																															acaggatacatttttactcgAaaaaatttcattcccattat																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:48608509delA	ENST00000358350.4	-	10	1291	c.687delT	c.(685-687)ttfs	p.F229fs	FRYL_ENST00000537810.1_Frame_Shift_Del_p.F229fs|FRYL_ENST00000507711.1_Frame_Shift_Del_p.F229fs|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Frame_Shift_Del_p.F229fs	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTTTTACTCGAAAAAATTTCA	0.348													11	24	---	---	---	---					-	48608509	A	-	48608509	7	5	172	1	0	1	0	1	0	0	0	0	6112	243	9	0	8574	0	FRYL	4	48608509	Frame_Shift_Del	DEL	A	TCGA-CR-5248-01A-01D-2012-08	22816332	48608509	142545767	98	30346											
LRRC66	339977	broad.mit.edu	37	chr4	52861239	52861239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacctcgctgtagtgggctGaaagcgcttcctcagccctt	7	10	11	13	2	1	1	1	1	0	0	3	2	2	1	3	1	3	4	3	1	3	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:52861239G>A	ENST00000343457.3	-	4	1955	c.1949C>T	c.(1948-1950)tCa>tTa	p.S650L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	650						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTAGTGGGCTGAAAGCGCTTC	0.532													16	40					0	0	0	0	A	52861239	G	A	52861239	3	1	172	1	0	0	0	0	1	0	0	0	9082	1294	45	2	697	2	LRRC66	4	52861239	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	4252730	52861239	138293037	99	30347											
CLOCK	9575	broad.mit.edu	37	chr4	56301653	56301653	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgagttgctgctgttgctGagactgatgttgctggtgat	5	15	15	6	0	0	4	0	4	0	1	0	5	0	4	0	1	4	8	0	1	0	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:56301653G>A	ENST00000309964.4	-	22	2720	c.2470C>T	c.(2470-2472)Cag>Tag	p.Q824*	CLOCK_ENST00000381322.1_Nonsense_Mutation_p.Q824*|CLOCK_ENST00000513440.1_Nonsense_Mutation_p.Q824*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	824	Poly-Gln.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TGCTGTTGCTGAGACTGATGT	0.527													25	56					0	0	0	0	A	56301653	G	A	56301653	4	1	172	1	0	0	0	0	0	1	0	0	3579	1299	45	2	74	2	CLOCK	4	56301653	Nonsense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	3440414	56301653	134852623	100	30348											
TECRL	253017	broad.mit.edu	37	chr4	65274945	65274945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtcttagagggcccgctGagagtacaagttttgacaaa	11	11	12	7	1	1	3	0	2	1	2	1	4	1	3	1	2	1	3	1	2	4	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:65274945G>A	ENST00000381210.3	-	1	235	c.125C>T	c.(124-126)tCa>tTa	p.S42L	TECRL_ENST00000507440.1_Missense_Mutation_p.S42L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	42					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AGGGCCCGCTGAGAGTACAAG	0.393													8	28					0	0	0	0	A	65274945	G	A	65274945	3	1	172	1	0	0	0	0	1	0	0	0	15840	1294	45	2	1014	2	TECRL	4	65274945	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	8973292	65274945	125879331	101	30349											
SMARCAD1	56916	broad.mit.edu	37	chr4	95155231	95155231	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgctaaacttcagactttGaaggaactttttccacaaag	14	12	7	8	0	1	2	1	1	0	1	2	4	2	3	1	1	3	1	1	1	5	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:95155231G>C	ENST00000354268.4	+	4	568	c.495G>C	c.(493-495)ttG>ttC	p.L165F	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L165F			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	165	CUE 1.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ttcagactttgaaggaacttt	0.373													8	18					0	0	0	0	C	95155231	G	C	95155231	3	2	172	1	0	0	0	0	1	0	0	0	14860	1281	45	2	505	2	SMARCAD1	4	95155231	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	29880286	95155231	95999045	102	30350											
ANK2	287	broad.mit.edu	37	chr4	114195732	114195732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacacaccactgcacatctCtgcccgggagggccaggtgg	8	6	13	14	1	1	0	0	0	1	0	2	1	1	1	3	4	3	2	3	4	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:114195732C>T	ENST00000357077.4	+	15	1663	c.1610C>T	c.(1609-1611)tCt>tTt	p.S537F	ANK2_ENST00000264366.6_Missense_Mutation_p.S537F|ANK2_ENST00000506722.1_Missense_Mutation_p.S516F|ANK2_ENST00000394537.3_Missense_Mutation_p.S537F	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	537					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGCACATCTCTGCCCGGGAG	0.532													22	36					0	0	0	0	T	114195732	C	T	114195732	3	4	172	1	0	0	0	0	1	0	0	0	621	913	32	2	1693	2	ANK2	4	114195732	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	19040501	114195732	76958544	103	30351											
ANKRD50	57182	broad.mit.edu	37	chr4	125590572	125590572	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtgaagaattactttgtTtcgcttttttcccagctgat	7	18	8	8	1	0	3	0	2	0	1	2	3	1	3	1	0	2	4	1	0	3	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:125590572T>C	ENST00000504087.1	-	4	4897	c.3860A>G	c.(3859-3861)aAa>aGa	p.K1287R	ANKRD50_ENST00000515641.1_Missense_Mutation_p.K1108R	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1287	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATTACTTTGTTTCGCTTTTTT	0.418													4	126					0	0	0	0	C	125590572	T	C	125590572	3	2	172	1	0	0	0	0	1	0	0	0	676	1841	64	5	433	5	ANKRD50	4	125590572	Missense_Mutation	SNP	T	TCGA-CR-5248-01A-01D-2012-08	11394840	125590572	65563704	104	30352											
WDR17	116966	broad.mit.edu	37	chr4	177041161	177041161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcatagcttcttgtctGatatctgtatgttcagatgg	8	17	9	7	0	5	2	2	1	3	1	5	2	5	2	0	1	2	4	0	1	3	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:177041161G>T	ENST00000393643.2	+	4	703	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	WDR17_ENST00000508596.1_Missense_Mutation_p.D151Y|WDR17_ENST00000280190.4_Missense_Mutation_p.D175Y|WDR17_ENST00000507824.2_Missense_Mutation_p.D175Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	175										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTCTTGTCTGATATCTGTAT	0.408													32	87					1.88708e-17	3.42063e-17	1	0	T	177041161	G	T	177041161	3	4	172	1	0	0	0	0	1	0	0	0	17373	1290	45	2	537	2	WDR17	4	177041161	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	51450589	177041161	14113115	105	30353											
PLEKHG4B	153478	broad.mit.edu	37	chr5	171516	171516	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcttccagctgcgtcAcggcaatgacctgctggcca	6	9	12	14	2	2	1	1	1	1	0	3	1	3	1	3	3	4	4	3	3	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:171516A>G	ENST00000283426.6	+	14	2989	c.2939A>G	c.(2938-2940)cAc>cGc	p.H980R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	980	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGCTGCGTCACGGCAATGAC	0.667													4	30					0	0	0	0	G	171516	A	G	171516	3	3	172	1	0	0	0	0	1	0	0	0	12144	159	6	5	2993	5	PLEKHG4B	5	171516	Missense_Mutation	SNP	A	TCGA-CR-5248-01A-01D-2012-08		171516	180743744	106	30354											
ZDHHC11	79844	broad.mit.edu	37	chr5	801245	801245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttcactttcagcactgtCagttttcatgggctctgttg	5	17	9	10	0	6	0	4	0	2	0	6	0	6	0	0	1	1	4	0	1	0	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:801245C>T	ENST00000283441.8	-	12	1599	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.D406N|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	406						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TCAGCACTGTCAGTTTTCATG	0.398													11	104					0	0	0	0	T	801245	C	T	801245	3	4	172	1	0	0	0	0	1	0	0	0	17696	826	29	2	26	2	ZDHHC11	5	801245	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	629729	801245	180114015	107	30355											
NSUN2	54888	broad.mit.edu	37	chr5	6605463	6605463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctgccttttcttcccttCtgtagtccgagttaacaaat	8	15	7	11	1	2	0	0	0	2	0	4	2	4	0	3	0	3	3	3	0	3	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:6605463C>T	ENST00000264670.6	-	15	1971	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	NSUN2_ENST00000506139.1_Missense_Mutation_p.E519K|NSUN2_ENST00000539938.1_Missense_Mutation_p.E318K	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	554						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TTCTTCCCTTCTGTAGTCCGA	0.423													22	155					0	0	0	0	T	6605463	C	T	6605463	3	4	172	1	0	0	0	0	1	0	0	0	10749	922	32	2	663	2	NSUN2	5	6605463	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	5804218	6605463	174309797	108	30356											
DNAH5	1767	broad.mit.edu	37	chr5	13871062	13871062	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttacagtggcgtccaatGacaaccatccaggcctttgt	9	12	9	11	1	0	1	0	1	0	0	2	1	2	1	4	2	2	1	4	2	3	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:13871062G>A	ENST00000265104.4	-	24	3752	c.3648C>T	c.(3646-3648)gtC>gtT	p.V1216V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1216	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCGTCCAATGACAACCATCC	0.388									Kartagener syndrome				14	68					0	0	0	0	A	13871062	G	A	13871062	2	1	172	1	0	0	0	0	0	0	0	1	4641	1277	45	2		2	DNAH5	5	13871062	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	7265599	13871062	167044198	109	30357											
TRIO	7204	broad.mit.edu	37	chr5	14291310	14291310	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaccagtgcttccagctGaggctgtttgaacaggatgc	8	10	13	10	0	0	2	0	2	0	0	1	4	1	4	2	3	4	4	2	3	1	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:14291310G>A	ENST00000344204.4	+	5	1050	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	TRIO_ENST00000537187.1_Silent_p.L342L|TRIO_ENST00000509967.2_Silent_p.L293L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	342					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTTCCAGCTGAGGCTGTTTG	0.587													18	56					0	0	0	0	A	14291310	G	A	14291310	2	1	172	1	0	0	0	0	0	0	0	1	16647	1277	45	2		2	TRIO	5	14291310	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	420248	14291310	166623950	110	30358											
C1QTNF3	114899	broad.mit.edu	37	chr5	34033476	34033476	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	catgctgcccccgctcccctCgaggccccaggtcacctttg	4	8	9	20	2	1	0	1	0	0	0	3	1	2	0	7	2	2	2	7	2	0	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:34033476C>G	ENST00000382065.3	-	3	1209	c.503G>C	c.(502-504)cGa>cCa	p.R168P	C1QTNF3_ENST00000231338.7_Missense_Mutation_p.R95P	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	95	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CCGCTCCCCTCGAGGCCCCAG	0.562													21	64					0	0	0	0	G	34033476	C	G	34033476	3	3	172	1	0	0	0	0	1	0	0	0	1983	884	31	3	472	3	C1QTNF3	5	34033476	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	19742166	34033476	146881784	111	30359											
PIK3R1	5295	broad.mit.edu	37	chr5	67576368	67576368	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acttgtagaagtacaaagctCcgaagaatatattcagctat	16	11	7	7	1	1	2	1	0	0	2	2	3	2	2	1	0	3	4	1	0	9	7			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:67576368C>G	ENST00000521381.1	+	6	1263	c.647C>G	c.(646-648)tCc>tGc	p.S216C	PIK3R1_ENST00000396611.1_Missense_Mutation_p.S216C|PIK3R1_ENST00000521657.1_Missense_Mutation_p.S216C|PIK3R1_ENST00000274335.5_Missense_Mutation_p.S216C	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	216	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GTACAAAGCTCCGAAGAATAT	0.343			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			26	130					0	0	0	0	G	67576368	C	G	67576368	3	3	172	1	0	0	0	0	1	0	0	0	11990	855	30	2	665	2	PIK3R1	5	67576368	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	33542892	67576368	113338892	112	30360											
PTCD2	79810	broad.mit.edu	37	chr5	71654230	71654230	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtcgcaccttccagccactCagccagtccctgttggctga	6	9	9	17	2	1	1	1	1	0	0	4	1	3	1	5	1	2	3	5	1	0	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:71654230C>G	ENST00000380639.5	+	10	1159	c.1143C>G	c.(1141-1143)ctC>ctG	p.L381L	PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000503868.1_Silent_p.L272L|PTCD2_ENST00000536805.1_Silent_p.L209L	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	381										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TCCAGCCACTCAGCCAGTCCC	0.517													5	15					0	0	0	0	G	71654230	C	G	71654230	2	3	172	1	0	0	0	0	0	0	0	1	12807	813	29	2		2	PTCD2	5	71654230	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	4077862	71654230	109261030	113	30361											
THBS4	7060	broad.mit.edu	37	chr5	79355723	79355723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatcacctgtattgatgttGatgaggtaaaagttcactta	12	14	10	5	0	2	3	2	3	0	0	2	4	2	4	1	2	0	4	1	2	4	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:79355723G>A	ENST00000350881.2	+	7	1172	c.982G>A	c.(982-984)Gat>Aat	p.D328N	THBS4_ENST00000511733.1_Missense_Mutation_p.D237N|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	328	EGF-like 2; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TATTGATGTTGATGAGGTAAA	0.507													41	102					0	0	0	0	A	79355723	G	A	79355723	3	1	172	1	0	0	0	0	1	0	0	0	15950	1290	45	2	1008	2	THBS4	5	79355723	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	7701493	79355723	101559537	114	30362											
ERAP1	51752	broad.mit.edu	37	chr5	96130758	96130758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctctaccttgtttgggtagGggatacggtatgctgaaata	9	14	12	6	1	1	1	0	1	1	0	2	2	1	2	1	4	3	4	1	4	6	7			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:96130758G>A	ENST00000296754.3	-	5	1163	c.906C>T	c.(904-906)ccC>ccT	p.P302P	ERAP1_ENST00000443439.2_Silent_p.P302P	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	302					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GTTTGGGTAGGGGATACGGTA	0.388													4	21					0	0	0	0	A	96130758	G	A	96130758	2	1	172	1	0	0	0	0	0	0	0	1	5241	1219	43	4		4	ERAP1	5	96130758	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	16775035	96130758	84784502	115	30363											
P4HA2	8974	broad.mit.edu	37	chr5	131530707	131530707	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggttgtaccagaacacAgctgtaccctgggaaagaga	15	6	12	8	0	0	3	0	0	0	3	0	5	0	4	2	2	4	4	2	2	5	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:131530707A>C	ENST00000401867.1	-	15	2017	c.1449T>G	c.(1447-1449)gcT>gcG	p.A483A	P4HA2_ENST00000166534.4_Silent_p.A483A|P4HA2_ENST00000379086.1_Silent_p.A481A|P4HA2_ENST00000379104.2_Silent_p.A483A|P4HA2_ENST00000360568.3_Silent_p.A481A|P4HA2_ENST00000379100.2_Silent_p.A481A			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	483	Fe2OG dioxygenase.					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ACCAGAACACAGCTGTACCCT	0.542													19	52					0	0	0	0	C	131530707	A	C	131530707	2	2	172	1	0	0	0	0	0	0	0	1	11428	175	7	5		5	P4HA2	5	131530707	Silent	SNP	A	TCGA-CR-5248-01A-01D-2012-08	35399949	131530707	49384553	116	30364											
FAM53C	51307	broad.mit.edu	37	chr5	137680625	137680625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcagaccacccagtcGgggaaactcccccaaggagc	11	3	10	17	1	1	1	1	0	0	1	3	3	2	3	5	3	2	1	5	3	2	0	rs146380618	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:137680625G>A	ENST00000239906.5	+	4	676	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.R83Q|FAM53C_ENST00000513056.1_Intron	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	83										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCACCCAGTCGGGGAAACTCC	0.622													24	90					0	0	0	0	A	137680625	G	A	137680625	3	1	172	1	0	0	0	0	1	0	0	0	5628	1116	39	1	258	1	FAM53C	5	137680625	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	6149918	137680625	43234635	117	30365											
PCDHA6	56142	broad.mit.edu	37	chr5	140209601	140209601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcctggacgaagcggactCtccgcgccaccggctgctgg	5	7	14	15	5	1	0	0	0	1	0	3	3	2	2	4	4	2	2	4	4	1	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:140209601C>G	ENST00000529310.1	+	1	2039	c.1925C>G	c.(1924-1926)tCt>tGt	p.S642C	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCGGACTCTCCGCGCCAC	0.672													25	60					0	0	0	0	G	140209601	C	G	140209601	3	3	172	1	0	0	0	0	1	0	0	0	11599	913	32	2	1927	2	PCDHA6	5	140209601	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	2528976	140209601	40705659	118	30366											
GFOD1	54438	broad.mit.edu	37	chr6	13487002	13487002	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcatctccttggccagctCctccgcttcttcctgcgtgc	3	13	7	18	2	3	0	1	0	2	0	7	0	6	0	5	1	3	2	5	1	0	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:13487002C>A	ENST00000379287.3	-	1	785	c.121G>T	c.(121-123)Gag>Tag	p.E41*	GFOD1-AS1_ENST00000446001.1_RNA|GFOD1_ENST00000603223.1_Nonsense_Mutation_p.E41*	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	41						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TTGGCCAGCTCCTCCGCTTCT	0.627													25	82					7.38237e-10	1.30329e-09	1	0	A	13487002	C	A	13487002	4	1	172	1	0	0	0	0	0	1	0	0	6394	864	30	2	1059	2	GFOD1	6	13487002	Nonsense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08		13487002	157628065	119	30367											
HIST1H4C	8364	broad.mit.edu	37	chr6	26104378	26104378	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttcttagagaacgttattcGagacgccgtcacctatacgg	10	12	9	10	5	2	2	1	0	1	2	3	4	2	2	2	1	2	1	2	1	5	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:26104378G>C	ENST00000377803.2	+	1	275	c.203G>C	c.(202-204)cGa>cCa	p.R68P		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	68					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.R68P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AACGTTATTCGAGACGCCGTC	0.527													10	46					0	0	0	0	C	26104378	G	C	26104378	3	2	172	1	0	0	0	0	1	0	0	0	7217	1058	37	3	205	3	HIST1H4C	6	26104378	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	12617376	26104378	145010689	120	30368											
ZBTB12	221527	broad.mit.edu	37	chr6	31867996	31867996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgaactgcttgccacagcGagggcacatgaagatgaagt	12	8	13	8	1	0	4	0	3	0	1	0	5	0	4	1	1	4	3	1	1	3	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:31867996G>A	ENST00000375527.2	-	2	1262	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						TTGCCACAGCGAGGGCACATG	0.562													20	65					0	0	0	0	A	31867996	G	A	31867996	3	1	172	1	0	0	0	0	1	0	0	0	17620	1058	37	1	296	1	ZBTB12	6	31867996	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	5763618	31867996	139247071	121	30369											
ZBTB12	221527	broad.mit.edu	37	chr6	31868111	31868111	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaaggggtttccacctgaGaagcccccaggcaggggtcc	8	8	13	12	0	0	1	0	1	0	1	2	2	2	1	5	5	1	2	5	5	2	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:31868111G>C	ENST00000375527.2	-	2	1147	c.972C>G	c.(970-972)ttC>ttG	p.F324L	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	324	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						TTCCACCTGAGAAGCCCCCAG	0.687													7	35					0	0	0	0	C	31868111	G	C	31868111	3	2	172	1	0	0	0	0	1	0	0	0	17620	933	33	2	411	2	ZBTB12	6	31868111	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	115	31868111	139246956	122	30370											
KIF6	221458	broad.mit.edu	37	chr6	39330286	39330286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaggcacggccatgttttCcgagattcctgtagaaggaa	11	9	12	9	2	0	3	0	0	0	3	2	5	2	4	3	3	0	3	3	3	3	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:39330286C>T	ENST00000287152.7	-	17	1964	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	KIF6_ENST00000538893.1_Missense_Mutation_p.E568K|KIF6_ENST00000373216.3_Missense_Mutation_p.E624K|KIF6_ENST00000373213.4_Missense_Mutation_p.E463K|KIF6_ENST00000229913.5_Missense_Mutation_p.E75K|KIF6_ENST00000394362.1_Missense_Mutation_p.E75K|KIF6_ENST00000373215.3_Missense_Mutation_p.E607K|KIF6_ENST00000541946.1_Missense_Mutation_p.E75K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	624					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCCATGTTTTCCGAGATTCCT	0.512											OREG0017415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	137					0	0	0	0	T	39330286	C	T	39330286	3	4	172	1	0	0	0	0	1	0	0	0	8359	864	30	2	602	2	KIF6	6	39330286	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	7462175	39330286	131784781	123	30371											
TREM2	54209	broad.mit.edu	37	chr6	41126780	41126780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatggaagtgggtgggaaGgggatttctccttccaagag	10	9	17	5	0	1	1	0	0	1	1	3	5	2	5	2	6	0	0	2	6	3	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:41126780G>A	ENST00000373122.4	-	4	567	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F	TREM2_ENST00000373113.3_Silent_p.P169P|TREM2_ENST00000338469.3_Intron			Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	0					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGTGGGAAGGGGATTTCTC	0.547													6	15					0	0	0	0	A	41126780	G	A	41126780	3	1	172	1	0	0	0	0	1	0	0	0	16566	987	35	4	193	4	TREM2	6	41126780	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1796494	41126780	129988287	124	30372											
YIPF3	25844	broad.mit.edu	37	chr6	43481162	43481162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagtgaagaccagcatgaGaggtccatagagttcacctg	13	7	12	9	0	1	5	1	2	0	4	2	6	2	5	3	1	1	2	3	1	2	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:43481162G>A	ENST00000372422.2	-	5	651	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F	YIPF3_ENST00000506469.1_Missense_Mutation_p.L163F	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	157					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			ACCAGCATGAGAGGTCCATAG	0.478													6	46					0	0	0	0	A	43481162	G	A	43481162	3	1	172	1	0	0	0	0	1	0	0	0	17575	942	33	2	603	2	YIPF3	6	43481162	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	2354382	43481162	127633905	125	30373											
XPO5	57510	broad.mit.edu	37	chr6	43538730	43538730	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttccaaaatgttcaatgttCcctgaaaaagaacaagagat	17	10	6	8	0	1	3	1	1	0	2	3	4	3	3	2	0	1	2	2	0	7	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:43538730C>T	ENST00000265351.7	-	4	512	c.300_splice	c.e4-1	p.G101_splice		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	101	Necessary for interaction with Ran.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GTTCAATGTTCCCTGAAAAAG	0.408													5	127					0	0	0	0	T	43538730	C	T	43538730	5	4	172	1	0	0	0	0	0	0	1	0	17543	869	30	2	3428	2	XPO5	6	43538730	Splice_Site	SNP	C	TCGA-CR-5248-01A-01D-2012-08	57568	43538730	127576337	126	30374											
TFAP2B	7021	broad.mit.edu	37	chr6	50803961	50803961	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcgccccctgaatgcctCaatgcatctctcctcggcgg	5	10	9	17	3	2	1	1	1	1	0	6	1	3	1	4	2	2	1	4	2	2	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:50803961C>T	ENST00000263046.4	+	5	982	c.816C>T	c.(814-816)ctC>ctT	p.L272L	TFAP2B_ENST00000393655.3_Silent_p.L263L			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	263					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CTGAATGCCTCAATGCATCTC	0.458													13	46					0	0	0	0	T	50803961	C	T	50803961	2	4	172	1	0	0	0	0	0	0	0	1	15882	813	29	2		2	TFAP2B	6	50803961	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	7265231	50803961	120311106	127	30375											
TMEM14A	28978	broad.mit.edu	37	chr6	52541908	52541908	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaccttgccaatggaccTgatcggttttggttatgcag	8	13	11	9	1	0	1	0	1	0	0	1	2	0	2	3	3	4	4	3	3	3	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:52541908T>C	ENST00000211314.4	+	2	161	c.8T>C	c.(7-9)cTg>cCg	p.L3P		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	3						integral to membrane				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					CCAATGGACCTGATCGGTTTT	0.393													3	106					0	0	0	0	C	52541908	T	C	52541908	3	2	172	1	0	0	0	0	1	0	0	0	16157	1580	55	5	10	5	TMEM14A	6	52541908	Missense_Mutation	SNP	T	TCGA-CR-5248-01A-01D-2012-08	1737947	52541908	118573159	128	30376											
DST	667	broad.mit.edu	37	chr6	56437028	56437028	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagactatgcaaaacttcaaGatgtttcttgtgttctaaaa	14	14	7	6	0	3	2	1	0	2	2	3	3	3	2	0	0	2	3	0	0	6	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:56437028G>C	ENST00000370754.5	-	53	13497	c.13498C>G	c.(13498-13500)Ctt>Gtt	p.L4500V	DST_ENST00000446842.2_Missense_Mutation_p.L3996V|DST_ENST00000244364.6_Missense_Mutation_p.L1908V|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.L4322V|DST_ENST00000361203.3_Missense_Mutation_p.L4320V|DST_ENST00000421834.2_Missense_Mutation_p.L2234V|DST_ENST00000370788.2_Missense_Mutation_p.L2234V			Q03001	DYST_HUMAN	dystonin	4320					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAAACTTCAAGATGTTTCTTG	0.333													5	11					0	0	0	0	C	56437028	G	C	56437028	3	2	172	1	0	0	0	0	1	0	0	0	4819	942	33	2	9997	2	DST	6	56437028	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	3895120	56437028	114678039	129	30377											
ZNF451	26036	broad.mit.edu	37	chr6	57012646	57012646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactgctaacaagccttcatCagctattactgttattgatc	11	14	6	10	0	2	1	2	1	0	0	3	2	2	1	1	0	5	3	1	0	5	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:57012646C>T	ENST00000370706.4	+	10	2007	c.1763C>T	c.(1762-1764)tCa>tTa	p.S588L	RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.S588L|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.S588L	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAGCCTTCATCAGCTATTACT	0.393													15	62					0	0	0	0	T	57012646	C	T	57012646	3	4	172	1	0	0	0	0	1	0	0	0	18017	838	29	2	1801	2	ZNF451	6	57012646	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	575618	57012646	114102421	130	30378											
LMBRD1	55788	broad.mit.edu	37	chr6	70411789	70411789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactgtacttactttgacaaGaagagagaaattacaaacag	18	10	7	6	0	0	4	0	1	0	3	0	5	0	4	0	0	5	1	0	0	8	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:70411789G>A	ENST00000370577.3	-	10	1201	c.972C>T	c.(970-972)ttC>ttT	p.F324F	LMBRD1_ENST00000370570.1_Silent_p.F251F	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	324					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTTTGACAAGAAGAGAGAAA	0.294													4	15					0	0	0	0	A	70411789	G	A	70411789	2	1	172	1	0	0	0	0	0	0	0	1	8897	933	33	2		2	LMBRD1	6	70411789	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	13399143	70411789	100703278	131	30379											
LMBRD1	55788	broad.mit.edu	37	chr6	70423682	70423682	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggcaaaggtcgaccaTctttgctctgcaaataacag	11	11	9	10	1	2	0	0	0	2	0	3	1	2	0	1	2	4	4	1	2	3	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:70423682T>C	ENST00000370577.3	-	9	999	c.770A>G	c.(769-771)gAt>gGt	p.D257G	LMBRD1_ENST00000370570.1_Missense_Mutation_p.D184G	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	257					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AGGTCGACCATCTTTGCTCTG	0.363													7	23					0	0	0	0	C	70423682	T	C	70423682	3	2	172	1	0	0	0	0	1	0	0	0	8897	1435	50	5	884	5	LMBRD1	6	70423682	Missense_Mutation	SNP	T	TCGA-CR-5248-01A-01D-2012-08	11893	70423682	100691385	132	30380											
BCKDHB	594	broad.mit.edu	37	chr6	81053418	81053418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctagaggctcctatatcaaGagtatgtggttatgacacac	12	11	9	9	0	1	3	1	1	0	2	2	3	2	3	2	2	0	3	2	2	6	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:81053418G>C	ENST00000320393.6	+	10	1123	c.1076G>C	c.(1075-1077)aGa>aCa	p.R359T	BCKDHB_ENST00000356489.5_Missense_Mutation_p.R359T|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	359					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CCTATATCAAGAGTATGTGGT	0.373													5	45					0	0	0	0	C	81053418	G	C	81053418	3	2	172	1	0	0	0	0	1	0	0	0	1364	942	33	2	1114	2	BCKDHB	6	81053418	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	10629736	81053418	90061649	133	30381											
MCM9	254394	broad.mit.edu	37	chr6	119252640	119252640	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagcctcaggctgagaaagGgactggagaattgtcaaggc	13	6	14	8	0	2	2	2	1	0	2	2	5	2	3	1	4	1	1	1	4	3	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:119252640G>A	ENST00000316316.6	-	2	535	c.249C>T	c.(247-249)tcC>tcT	p.S83S	MCM9_ENST00000316068.3_Silent_p.S83S	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	83					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		GCTGAGAAAGGGACTGGAGAA	0.423													7	28					0	0	0	0	A	119252640	G	A	119252640	2	1	172	1	0	0	0	0	0	0	0	1	9463	1219	43	4		4	MCM9	6	119252640	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	38199222	119252640	51862427	134	30382											
LAMA2	3908	broad.mit.edu	37	chr6	129687405	129687405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccttcttctcggtgacttgGctcgcctggagcagatggtc	4	12	13	12	2	2	2	0	1	2	1	5	3	2	3	2	4	1	2	2	4	0	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:129687405G>T	ENST00000421865.2	+	33	4808	c.4759G>T	c.(4759-4761)Gct>Tct	p.A1587S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1587	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGGTGACTTGGCTCGCCTGGA	0.478													16	52					6.94344e-10	1.22871e-09	1	0	T	129687405	G	T	129687405	3	4	172	1	0	0	0	0	1	0	0	0	8659	1203	42	4	4889	4	LAMA2	6	129687405	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	10434765	129687405	41427662	135	30383											
MAP3K5	4217	broad.mit.edu	37	chr6	137019686	137019686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgatccacaagaggtaagcaGatgggtccaagaagcagctc	14	5	12	10	1	0	3	0	0	0	3	3	4	2	3	2	2	3	4	2	2	4	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:137019686G>A	ENST00000359015.4	-	4	1107	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	249					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAGGTAAGCAGATGGGTCCAA	0.413													6	23					0	0	0	0	A	137019686	G	A	137019686	2	1	172	1	0	0	0	0	0	0	0	1	9322	932	33	2		2	MAP3K5	6	137019686	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	7332281	137019686	34095381	136	30384											
HIVEP2	3097	broad.mit.edu	37	chr6	143081778	143081778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacatgctatgcttctctgCtgctttgtgcaaatcttcca	7	15	8	11	0	2	0	0	0	2	0	4	1	3	1	1	1	5	5	1	1	2	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:143081778C>T	ENST00000367603.2	-	9	6389	c.5647G>A	c.(5647-5649)Gca>Aca	p.A1883T	HIVEP2_ENST00000367604.1_Missense_Mutation_p.A1883T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1883T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGCTTCTCTGCTGCTTTGTGC	0.368													4	14					0	0	0	0	T	143081778	C	T	143081778	3	4	172	1	0	0	0	0	1	0	0	0	7237	797	28	4	1701	4	HIVEP2	6	143081778	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	6062092	143081778	28033289	137	30385											
SASH1	23328	broad.mit.edu	37	chr6	148865685	148865685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaaaaggggcagccccGccagccccaccagccctagc	10	2	11	18	1	0	1	0	1	0	0	0	1	0	1	7	2	4	1	7	2	3	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:148865685G>A	ENST00000367467.3	+	18	3554	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1027	Pro-rich.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGGCAGCCCCGCCAGCCCCAC	0.701													5	37					0	0	0	0	A	148865685	G	A	148865685	3	1	172	1	0	0	0	0	1	0	0	0	13934	1087	38	1	3149	1	SASH1	6	148865685	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	5783907	148865685	22249382	138	30386											
ZBTB2	57621	broad.mit.edu	37	chr6	151686993	151686993	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacgtggcgggcagcctggTtggccctgcaaaagcttttg	7	9	14	11	2	0	0	0	0	0	0	0	0	0	0	2	4	3	4	2	4	2	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:151686993T>C	ENST00000325144.4	-	3	1348	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GGCAGCCTGGTTGGCCCTGCA	0.517													19	51					0	0	0	0	C	151686993	T	C	151686993	3	2	172	1	0	0	0	0	1	0	0	0	17623	1725	60	5	340	5	ZBTB2	6	151686993	Missense_Mutation	SNP	T	TCGA-CR-5248-01A-01D-2012-08	2821308	151686993	19428074	139	30387											
WIPI2	26100	broad.mit.edu	37	chr7	5232766	5232766	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagagaagtgaaaggggcatCaagagcagctggtcttggcc	12	7	15	7	0	2	3	1	1	1	2	2	4	2	3	1	4	2	3	1	4	4	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:5232766C>G	ENST00000288828.4	+	2	324	c.92C>G	c.(91-93)tCa>tGa	p.S31*	WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000485854.1_Intron|WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000404704.3_Nonsense_Mutation_p.S31*	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	31					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		AAAGGGGCATCAAGAGCAGCT	0.388													8	98					0	0	0	0	G	5232766	C	G	5232766	4	3	172	1	0	0	0	0	0	1	0	0	17467	838	29	2	98	2	WIPI2	7	5232766	Nonsense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08		5232766	153905897	140	30388											
EIF2AK1	27102	broad.mit.edu	37	chr7	6086667	6086667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcctaagatggcaagttCttcaaattcatttaagtaac	13	16	5	7	0	3	1	2	0	1	1	4	1	4	1	1	1	1	3	1	1	5	9			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:6086667C>G	ENST00000199389.6	-	5	651	c.505G>C	c.(505-507)Gaa>Caa	p.E169Q	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.E45Q	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	169	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	p.E169K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		ATGGCAAGTTCTTCAAATTCA	0.348													7	23					0	0	0	0	G	6086667	C	G	6086667	3	3	172	1	0	0	0	0	1	0	0	0	5032	922	32	2	1431	2	EIF2AK1	7	6086667	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	853901	6086667	153051996	141	30389											
C7orf31	136895	broad.mit.edu	37	chr7	25218826	25218826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagttgggcgagtaaccgtCtggagggggttgtgcaattc	7	10	17	7	2	1	0	0	0	1	0	2	2	1	1	1	4	2	5	1	4	2	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:25218826C>G	ENST00000409280.1	-	2	410	c.102G>C	c.(100-102)caG>caC	p.Q34H	C7orf31_ENST00000283905.3_Missense_Mutation_p.Q34H			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	34										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GAGTAACCGTCTGGAGGGGGT	0.428													14	47					0	0	0	0	G	25218826	C	G	25218826	3	3	172	1	0	0	0	0	1	0	0	0	2410	912	32	2	1706	2	C7orf31	7	25218826	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	19132159	25218826	133919837	142	30390											
NFE2L3	9603	broad.mit.edu	37	chr7	26224729	26224729	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaggtggctactacccaGaacccagtaagctttgtcac	10	10	9	12	0	1	1	1	0	0	1	1	1	1	1	2	2	4	4	2	2	5	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:26224729G>T	ENST00000056233.3	+	4	1670	c.1411G>T	c.(1411-1413)Gaa>Taa	p.E471*		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	471					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CTACTACCCAGAACCCAGTAA	0.428													27	97					6.32553e-13	1.1274e-12	1	0	T	26224729	G	T	26224729	4	4	172	1	0	0	0	0	0	1	0	0	10439	943	33	2	1425	2	NFE2L3	7	26224729	Nonsense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1005903	26224729	132913934	143	30391											
BMPER	168667	broad.mit.edu	37	chr7	34101656	34101656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgctgtcctatttgcactGaaagtaagtttattcctttg	9	17	8	7	0	0	1	0	1	0	0	2	2	2	1	2	0	2	4	2	0	4	7	rs139550819		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:34101656G>A	ENST00000297161.2	+	12	1449	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	BMPER_ENST00000426693.1_Missense_Mutation_p.E359K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	359					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TATTTGCACTGAAAGTAAGTT	0.299													4	33					0	0	0	0	A	34101656	G	A	34101656	3	1	172	1	0	0	0	0	1	0	0	0	1473	1291	45	2	1117	2	BMPER	7	34101656	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	7876927	34101656	125037007	144	30392											
AOAH	313	broad.mit.edu	37	chr7	36677476	36677476	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatcggggacttcttgAcaatttgtcttgccttctgt	7	15	9	10	1	3	2	0	1	3	1	4	3	3	3	2	2	1	0	2	2	2	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:36677476A>T	ENST00000431169.1	-	5	731	c.431T>A	c.(430-432)gTc>gAc	p.V144D	AOAH_ENST00000535891.1_Missense_Mutation_p.V112D|AOAH_ENST00000258749.5_Missense_Mutation_p.V144D	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	144					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GGACTTCTTGACAATTTGTCT	0.428													7	30					0	0	0	0	T	36677476	A	T	36677476	3	4	172	1	0	0	0	0	1	0	0	0	727	275	10	5	1705	5	AOAH	7	36677476	Missense_Mutation	SNP	A	TCGA-CR-5248-01A-01D-2012-08	2575820	36677476	122461187	145	30393											
ABCB4	5244	broad.mit.edu	37	chr7	87069132	87069132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcagctgggcccctctctCtccaaccagggtgtcaaatt	8	10	8	15	0	4	0	2	0	2	0	6	0	4	0	4	2	2	1	4	2	2	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:87069132C>T	ENST00000265723.4	-	14	1693	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	ABCB4_ENST00000359206.3_Missense_Mutation_p.E528K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E528K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E528K|ABCB4_ENST00000453593.1_Missense_Mutation_p.E528K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	528	ABC transporter 1.		E -> D (in dbSNP:rs8187797).		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GCCCCTCTCTCTCCAACCAGG	0.478													26	75					0	0	0	0	T	87069132	C	T	87069132	3	4	172	1	0	0	0	0	1	0	0	0	43	922	32	2	2338	2	ABCB4	7	87069132	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	50391656	87069132	72069531	146	30394											
ZNF804B	219578	broad.mit.edu	37	chr7	88956698	88956698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgggaatttgctcgaaatgTagcttctaagtcatggaaag	13	11	11	6	2	2	0	1	0	1	0	3	3	2	2	0	2	2	3	0	2	5	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:88956698T>C	ENST00000333190.4	+	3	899	c.290T>C	c.(289-291)gTa>gCa	p.V97A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	97						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCTCGAAATGTAGCTTCTAAG	0.328										HNSCC(36;0.09)			7	50					0	0	0	0	C	88956698	T	C	88956698	3	2	172	1	0	0	0	0	1	0	0	0	18264	1638	57	5	300	5	ZNF804B	7	88956698	Missense_Mutation	SNP	T	TCGA-CR-5248-01A-01D-2012-08	1887566	88956698	70181965	147	30395											
MCM7	4176	broad.mit.edu	37	chr7	99696975	99696975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agggtcccgactccgctgctCcatcattagccgatgctcaa	8	9	9	15	3	2	0	2	0	0	0	5	2	5	0	4	1	3	3	4	1	2	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:99696975C>T	ENST00000303887.5	-	4	973	c.328G>A	c.(328-330)Gag>Aag	p.E110K	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.E110K	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	110					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CTCCGCTGCTCCATCATTAGC	0.483													23	100					0	0	0	0	T	99696975	C	T	99696975	3	4	172	1	0	0	0	0	1	0	0	0	9461	864	30	2	1879	2	MCM7	7	99696975	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	10740277	99696975	59441688	148	30396											
MUC17	140453	broad.mit.edu	37	chr7	100678577	100678577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacgctggtgaccagtcctGaggctagcacccttttaaca	9	9	9	14	1	0	2	0	2	0	0	1	2	1	2	4	2	2	3	4	2	2	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:100678577G>A	ENST00000306151.4	+	3	3944	c.3880G>A	c.(3880-3882)Gag>Aag	p.E1294K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1294	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACCAGTCCTGAGGCTAGCAC	0.473													107	407					0	0	0	0	A	100678577	G	A	100678577	3	1	172	1	0	0	0	0	1	0	0	0	10044	1291	45	2	3890	2	MUC17	7	100678577	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	981602	100678577	58460086	149	30397											
RELN	5649	broad.mit.edu	37	chr7	103137182	103137182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taacagaaatgtatttctggTaatccatctcatggagcaaa	15	12	7	7	0	2	1	1	0	2	1	4	2	3	2	1	2	2	3	1	2	5	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:103137182T>C	ENST00000428762.1	-	56	9143	c.8984A>G	c.(8983-8985)tAc>tGc	p.Y2995C	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.Y2995C|RELN_ENST00000343529.5_Missense_Mutation_p.Y2995C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2995					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTATTTCTGGTAATCCATCTC	0.418													12	47					0	0	0	0	C	103137182	T	C	103137182	3	2	172	1	0	0	0	0	1	0	0	0	13302	1638	57	5	1438	5	RELN	7	103137182	Missense_Mutation	SNP	T	TCGA-CR-5248-01A-01D-2012-08	2458605	103137182	56001481	150	30398											
TMEM168	64418	broad.mit.edu	37	chr7	112424433	112424433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggttagtaaagtgggccGatgacggacataaccagaaa	14	8	13	6	2	0	2	0	1	0	1	0	4	0	3	2	3	1	2	2	3	5	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:112424433G>A	ENST00000312814.5	-	2	1008	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	TMEM168_ENST00000454074.1_Missense_Mutation_p.R150W	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	150						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AAAGTGGGCCGATGACGGACA	0.408													7	60					0	0	0	0	A	112424433	G	A	112424433	3	1	172	1	0	0	0	0	1	0	0	0	16177	1057	37	1	1661	1	TMEM168	7	112424433	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	9287251	112424433	46714230	151	30399											
CADPS2	93664	broad.mit.edu	37	chr7	121960236	121960236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatcagccttcttcttcttCgtcactgtctttcatagtaa	8	18	4	11	1	7	0	3	0	4	0	8	0	7	0	1	0	1	1	1	0	3	8			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:121960236C>T	ENST00000334010.7	-	28	4289	c.3868G>A	c.(3868-3870)Gaa>Aaa	p.E1290K	CADPS2_ENST00000313070.7_Missense_Mutation_p.E1251K|CADPS2_ENST00000412584.2_Missense_Mutation_p.E1251K|CADPS2_ENST00000449022.2_Missense_Mutation_p.E1292K	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1292					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCTTCTTCTTCGTCACTGTCT	0.413													20	78					0	0	0	0	T	121960236	C	T	121960236	3	4	172	1	0	0	0	0	1	0	0	0	2596	893	31	1	20	1	CADPS2	7	121960236	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	9535803	121960236	37178427	152	30400											
GCC1	79571	broad.mit.edu	37	chr7	127222320	127222320	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcctcacgatgccgttcGccctcctccagcagccgatc	6	8	7	20	4	1	0	1	0	0	0	6	2	4	0	7	0	3	2	7	0	0	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:127222320G>A	ENST00000321407.2	-	2	2500	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	692						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GATGCCGTTCGCCCTCCTCCA	0.582													18	58					0	0	0	0	A	127222320	G	A	127222320	2	1	172	1	0	0	0	0	0	0	0	1	6334	1074	38	1		1	GCC1	7	127222320	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	5262084	127222320	31916343	153	30401											
FLNC	2318	broad.mit.edu	37	chr7	128485033	128485033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagcgcggcaaggtcggtGaggcagccaccttcactgtg	7	7	16	11	3	1	1	1	1	0	0	2	2	1	2	2	5	2	2	2	5	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:128485033G>A	ENST00000325888.8	+	21	3775	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K	FLNC_ENST00000346177.6_Missense_Mutation_p.E1172K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1172					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						CAAGGTCGGTGAGGCAGCCAC	0.652													13	35					0	0	0	0	A	128485033	G	A	128485033	3	1	172	1	0	0	0	0	1	0	0	0	5980	1291	45	2	3596	2	FLNC	7	128485033	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1262713	128485033	30653630	154	30402											
STRA8	346673	broad.mit.edu	37	chr7	134916760	134916760	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgatgtggacaagatcctCtttttcaatcaagaaatcag	14	13	7	7	0	4	3	3	1	1	2	5	4	5	4	1	1	0	0	1	1	4	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:134916760C>G	ENST00000275764.3	+	1	30	c.30C>G	c.(28-30)ctC>ctG	p.L10L		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	10					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ACAAGATCCTCTTTTTCAATC	0.488													16	71					0	0	0	0	G	134916760	C	G	134916760	2	3	172	1	0	0	0	0	0	0	0	1	15413	900	32	2		2	STRA8	7	134916760	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	6431727	134916760	24221903	155	30403											
PRSS1	5644	broad.mit.edu	37	chr7	142460829	142460829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctacaccaaggtctacaaCtatgtgaaatggattaagaa	16	10	8	7	0	2	2	0	1	2	1	2	3	2	3	1	2	3	0	1	2	8	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:142460829C>G	ENST00000486171.1	+	6	761	c.744C>G	c.(742-744)aaC>aaG	p.N248K	PRSS1_ENST00000311737.7_Missense_Mutation_p.N234K			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	234					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGGTCTACAACTATGTGAAAT	0.493													3	98					0	0	0	0	G	142460829	C	G	142460829	3	3	172	1	0	0	0	0	1	0	0	0	12693	564	20	4	720	4	PRSS1	7	142460829	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	7544069	142460829	16677834	156	30404											
TPK1	27010	broad.mit.edu	37	chr7	144245667	144245667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacaccaatcaccctccattCcagtgtctacatgcaacctg	11	9	4	17	0	2	0	1	0	1	0	4	0	4	0	5	0	3	1	5	0	3	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:144245667C>T	ENST00000549981.1	-	10	902	c.179G>A	c.(178-180)gGa>gAa	p.G60E	TPK1_ENST00000378099.3_Missense_Mutation_p.G128E|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.G123E|TPK1_ENST00000360057.3_Missense_Mutation_p.G177E			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	177					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ACCCTCCATTCCAGTGTCTAC	0.468													19	60					0	0	0	0	T	144245667	C	T	144245667	3	4	172	1	0	0	0	0	1	0	0	0	16499	855	30	2	209	2	TPK1	7	144245667	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1784838	144245667	14892996	157	30405											
ABCF2	10061	broad.mit.edu	37	chr7	150920888	150920888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catctctgccttgtcggcatCcagctcctccaggcgctcgt	4	11	9	17	3	1	0	0	0	1	0	7	0	4	0	4	2	2	3	4	2	0	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:150920888C>T	ENST00000287844.2	-	5	707	c.598G>A	c.(598-600)Gat>Aat	p.D200N	ABCF2_ENST00000222388.2_Missense_Mutation_p.D200N	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	200	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGTCGGCATCCAGCTCCTCC	0.602													10	14					0	0	0	0	T	150920888	C	T	150920888	3	4	172	1	0	0	0	0	1	0	0	0	66	855	30	2	1358	2	ABCF2	7	150920888	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	6675221	150920888	8217775	158	30406											
GALNTL5	168391	broad.mit.edu	37	chr7	151716792	151716792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacggaaatattcgcgagcGtgttgagttaaggaaacgac	13	9	12	7	5	0	1	0	1	0	0	1	5	0	3	0	2	3	2	0	2	5	5	rs149825214	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:151716792G>A	ENST00000392800.2	+	9	1492	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R413H	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	413						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATTCGCGAGCGTGTTGAGTTA	0.423													6	53					0	0	0	0	A	151716792	G	A	151716792	3	1	172	1	0	0	0	0	1	0	0	0	6273	1145	40	1	1268	1	GALNTL5	7	151716792	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	795904	151716792	7421871	159	30407											
MTUS1	57509	broad.mit.edu	37	chr8	17532707	17532707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcttacctagctctccccGgaggttaacaagttcttgag	8	12	9	12	1	3	1	0	1	3	0	4	2	3	2	3	2	3	4	3	2	4	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:17532707G>A	ENST00000381869.3	-	7	3204	c.2731C>T	c.(2731-2733)Cgg>Tgg	p.R911W	MTUS1_ENST00000519263.1_Missense_Mutation_p.R911W|MTUS1_ENST00000381861.3_Missense_Mutation_p.R212W|MTUS1_ENST00000297488.6_Missense_Mutation_p.R131W|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000400046.1_Missense_Mutation_p.R37W|MTUS1_ENST00000262102.6_Missense_Mutation_p.R965W|MTUS1_ENST00000544260.1_Missense_Mutation_p.R110W	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	965			K -> T.			Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGCTCTCCCCGGAGGTTAACA	0.463													10	42					0	0	0	0	A	17532707	G	A	17532707	3	1	172	1	0	0	0	0	1	0	0	0	10035	1115	39	1	951	1	MTUS1	8	17532707	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08		17532707	128831315	160	30408											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19363042	19363042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagacccaggccagcagcatCgctggcttggtactgcccat	8	7	11	15	1	0	1	0	0	0	1	1	1	0	1	3	3	4	5	3	3	1	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:19363042C>T	ENST00000454498.2	-	4	1317	c.304G>A	c.(304-306)Gat>Aat	p.D102N	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.D102N|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.D102N|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.D102N|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.D102N	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	102					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CCAGCAGCATCGCTGGCTTGG	0.627													20	42					0	0	0	0	T	19363042	C	T	19363042	3	4	172	1	0	0	0	0	1	0	0	0	3970	884	31	1	1322	1	CSGALNACT1	8	19363042	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1830335	19363042	127000980	161	30409											
ATP6V1B2	526	broad.mit.edu	37	chr8	20074737	20074737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcattctacccaagatttatCcacctatcaatgtgctgccc	10	13	4	14	0	3	1	2	0	1	1	4	1	4	1	4	0	3	1	4	0	5	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:20074737C>A	ENST00000276390.2	+	12	1208	c.1168C>A	c.(1168-1170)Cca>Aca	p.P390T		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	390					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		CAAGATTTATCCACCTATCAA	0.363													13	79					1.5842e-08	2.78356e-08	1	0	A	20074737	C	A	20074737	3	1	172	1	0	0	0	0	1	0	0	0	1183	855	30	2	1214	2	ATP6V1B2	8	20074737	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	711695	20074737	126289285	162	30410											
HGSNAT	138050	broad.mit.edu	37	chr8	43053070	43053070	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggatgtgaaggggctgtgGacaggaaccccattctttta	9	11	14	7	0	1	1	0	1	1	0	1	4	1	4	2	5	1	1	2	5	3	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:43053070G>A	ENST00000458501.2	+	17	1785	c.1785G>A	c.(1783-1785)tgG>tgA	p.W595*	HGSNAT_ENST00000379644.4_Nonsense_Mutation_p.W567*|HGSNAT_ENST00000521576.1_Nonsense_Mutation_p.W284*|HGSNAT_ENST00000297798.7_Nonsense_Mutation_p.W299*			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	595					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGGGGCTGTGGACAGGAACCC	0.552													6	22					0	0	0	0	A	43053070	G	A	43053070	4	1	172	1	0	0	0	0	0	1	0	0	7138	1183	41	2	1767	2	HGSNAT	8	43053070	Nonsense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	22978333	43053070	103310952	163	30411											
RP1	6101	broad.mit.edu	37	chr8	55539467	55539467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagatctccatgagacacagGttggatctctgaatgatgct	12	11	10	8	0	2	4	0	3	2	2	4	6	2	5	1	2	1	2	1	2	2	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:55539467G>A	ENST00000220676.1	+	4	3173	c.3025G>A	c.(3025-3027)Gtt>Att	p.V1009I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1009					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGAGACACAGGTTGGATCTCT	0.383													44	193					0	0	0	0	A	55539467	G	A	55539467	3	1	172	1	0	0	0	0	1	0	0	0	13617	1261	44	4	3035	4	RP1	8	55539467	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	12486397	55539467	90824555	164	30412											
GEM	2669	broad.mit.edu	37	chr8	95272531	95272531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgttccctgactcagaggaGatgactgagtctgtggagtc	8	11	14	8	0	2	5	1	3	1	2	4	7	3	6	1	2	0	1	1	2	0	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:95272531G>C	ENST00000297596.2	-	2	465	c.201C>G	c.(199-201)atC>atG	p.I67M	GEM_ENST00000396194.2_Missense_Mutation_p.I67M	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	67					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			ACTCAGAGGAGATGACTGAGT	0.587													11	53					0	0	0	0	C	95272531	G	C	95272531	3	2	172	1	0	0	0	0	1	0	0	0	6380	932	33	2	705	2	GEM	8	95272531	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	39733064	95272531	51091491	165	30413											
RNF19A	25897	broad.mit.edu	37	chr8	101287254	101287254	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacgtaagctctgggctctCtcttgtcgagcagcatcaca	10	10	9	12	2	4	0	1	0	3	0	6	1	4	0	0	1	4	5	0	1	2	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:101287254C>G	ENST00000519449.1	-	4	1126	c.810G>C	c.(808-810)gaG>gaC	p.E270D	RNF19A_ENST00000341084.2_Missense_Mutation_p.E270D	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	270					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TCTGGGCTCTCTCTTGTCGAG	0.428													10	69					0	0	0	0	G	101287254	C	G	101287254	3	3	172	1	0	0	0	0	1	0	0	0	13555	912	32	2	1738	2	RNF19A	8	101287254	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	6014723	101287254	45076768	166	30414											
EPPK1	83481	broad.mit.edu	37	chr8	144942096	144942096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttctggattgcaacaCgtgtctcgtggcctcattga	7	13	11	10	2	3	1	1	1	2	0	4	2	3	2	1	2	3	3	1	2	1	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:144942096C>T	ENST00000525985.1	-	2	5397	c.5326G>A	c.(5326-5328)Gtg>Atg	p.V1776M				P58107	EPIPL_HUMAN	epiplakin 1	1776						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GATTGCAACACGTGTCTCGTG	0.527													6	65					0	0	0	0	T	144942096	C	T	144942096	3	4	172	1	0	0	0	0	1	0	0	0	5228	536	19	1	1940	1	EPPK1	8	144942096	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	43654842	144942096	1421926	167	30415											
CPSF1	29894	broad.mit.edu	37	chr8	145623786	145623786	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgtggggccctgagtggcGaagccactggtgtccagctc	6	7	15	13	2	0	1	0	1	0	0	2	2	1	1	4	4	2	1	4	4	1	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:145623786G>A	ENST00000349769.3	-	19	1894	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	600					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCTGAGTGGCGAAGCCACTGG	0.657													6	181					0	0	0	0	A	145623786	G	A	145623786	2	1	172	1	0	0	0	0	0	0	0	1	3854	1049	37	1		1	CPSF1	8	145623786	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	681690	145623786	740236	168	30416											
DOCK8	81704	broad.mit.edu	37	chr9	368027	368027	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttttccagaaaccttctCtatgtctacccacagaggct	9	14	5	13	0	3	2	0	0	3	2	5	2	4	2	3	1	2	1	3	1	3	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:368027C>G	ENST00000432829.2	+	15	1801	c.1485C>G	c.(1483-1485)ctC>ctG	p.L495L	DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000469391.1_Silent_p.L495L|DOCK8_ENST00000382329.1_5'UTR|DOCK8_ENST00000453981.1_Silent_p.L563L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	563	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAAACCTTCTCTATGTCTACC	0.378													9	56					0	0	0	0	G	368027	C	G	368027	2	3	172	1	0	0	0	0	0	0	0	1	4729	900	32	2		2	DOCK8	9	368027	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08		368027	140845404	169	30417											
VLDLR	7436	broad.mit.edu	37	chr9	2645067	2645067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggatcttgctactggcGtgtgcaaggcagtaggtaaa	12	10	13	6	1	1	0	0	0	1	0	1	1	1	1	0	4	3	5	0	4	6	4	rs140062795	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:2645067G>A	ENST00000382100.2	+	9	1653	c.1297G>A	c.(1297-1299)Gtg>Atg	p.V433M	VLDLR_ENST00000382099.2_Missense_Mutation_p.V433M	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	433	EGF-like 2; calcium-binding (Potential).				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGCTACTGGCGTGTGCAAGGC	0.418													6	108					0	0	0	0	A	2645067	G	A	2645067	3	1	172	1	0	0	0	0	1	0	0	0	17270	1145	40	1	1331	1	VLDLR	9	2645067	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	2277040	2645067	138568364	170	30418											
KIAA2026	158358	broad.mit.edu	37	chr9	5922659	5922659	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttttccttctttatgctGaatcacaaaattcttaggca	10	17	5	9	0	3	1	1	1	2	0	4	1	4	1	1	1	2	3	1	1	5	7			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:5922659G>A	ENST00000399933.3	-	8	3336	c.3337C>T	c.(3337-3339)Cag>Tag	p.Q1113*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.Q1083*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1113										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCTTTATGCTGAATCACAAAA	0.373													27	100					0	0	0	0	A	5922659	G	A	5922659	4	1	172	1	0	0	0	0	0	1	0	0	8321	1299	45	2	2978	2	KIAA2026	9	5922659	Nonsense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	3277592	5922659	135290772	171	30419											
TESK1	7016	broad.mit.edu	37	chr9	35605991	35605991	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgcccccaggttcggcaccGacagtcagggcaagtcatgg	8	6	13	14	2	2	0	2	0	0	0	3	1	2	0	3	4	1	3	3	4	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:35605991G>C	ENST00000336395.5	+	2	480	c.230G>C	c.(229-231)cGa>cCa	p.R77P	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	77	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTTCGGCACCGACAGTCAGGG	0.672													5	71					0	0	0	0	C	35605991	G	C	35605991	3	2	172	1	0	0	0	0	1	0	0	0	15861	1058	37	3	236	3	TESK1	9	35605991	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	29683332	35605991	105607440	172	30420											
TESK1	7016	broad.mit.edu	37	chr9	35606017	35606017	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcaagtcatggtgctgAagatgaacaagctccccagt	12	7	12	10	0	1	3	1	2	0	1	2	3	2	3	2	2	3	3	2	2	4	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:35606017A>C	ENST00000336395.5	+	2	506	c.256A>C	c.(256-258)Aag>Cag	p.K86Q	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	86	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATGGTGCTGAAGATGAACAA	0.657													5	70					0	0	0	0	C	35606017	A	C	35606017	3	2	172	1	0	0	0	0	1	0	0	0	15861	247	9	5	262	5	TESK1	9	35606017	Missense_Mutation	SNP	A	TCGA-CR-5248-01A-01D-2012-08	26	35606017	105607414	173	30421											
FBXO10	26267	broad.mit.edu	37	chr9	37531963	37531963	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagcctctgcattgtggtaAatgttgttgccggcaatcaa	9	12	10	10	1	2	0	1	0	1	0	2	0	2	0	3	2	3	5	3	2	4	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:37531963A>C	ENST00000432825.2	-	4	1560	c.1512T>G	c.(1510-1512)atT>atG	p.I504M	FBXO10_ENST00000543968.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.I29M|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	504						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CATTGTGGTAAATGTTGTTGC	0.502													15	45					0	0	0	0	C	37531963	A	C	37531963	3	2	172	1	0	0	0	0	1	0	0	0	5771	10	1	5	1390	5	FBXO10	9	37531963	Missense_Mutation	SNP	A	TCGA-CR-5248-01A-01D-2012-08	1925946	37531963	103681468	174	30422											
TMC1	117531	broad.mit.edu	37	chr9	75441857	75441857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagctggatggcgaagatCttgagacagctttcaaaccc	12	8	10	11	1	2	2	1	1	1	2	2	5	2	3	2	2	3	2	2	2	3	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:75441857C>G	ENST00000297784.5	+	21	2616	c.2076C>G	c.(2074-2076)atC>atG	p.I692M	TMC1_ENST00000340019.3_Missense_Mutation_p.I692M|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.I692M	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	692					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGGCGAAGATCTTGAGACAGC	0.463													47	151					0	0	0	0	G	75441857	C	G	75441857	3	3	172	1	0	0	0	0	1	0	0	0	16078	903	32	2	2142	2	TMC1	9	75441857	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	37909894	75441857	65771574	175	30423											
AGTPBP1	23287	broad.mit.edu	37	chr9	88247624	88247624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggctctttgaatggaggCggaatgtgaccaaaataatc	14	10	11	6	1	1	2	0	2	1	0	2	4	1	4	1	4	0	1	1	4	6	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:88247624C>T	ENST00000357081.3	-	14	2112	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Silent_p.P616P|AGTPBP1_ENST00000376109.3_Silent_p.P668P|AGTPBP1_ENST00000432218.1_Silent_p.P494P			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	656					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TGAATGGAGGCGGAATGTGAC	0.403													11	56					0	0	0	0	T	88247624	C	T	88247624	2	4	172	1	0	0	0	0	0	0	0	1	400	755	27	1		1	AGTPBP1	9	88247624	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	12805767	88247624	52965807	176	30424											
WDR31	114987	broad.mit.edu	37	chr9	116079162	116079162	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagaagtcaagggtcctgatCcatccagagacaaggtgaaa	15	6	12	8	0	1	4	1	2	0	2	4	6	4	4	3	2	0	0	3	2	4	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:116079162C>G	ENST00000374193.4	-	11	1217	c.971G>C	c.(970-972)gGa>gCa	p.G324A	WDR31_ENST00000341761.4_Missense_Mutation_p.G323A|WDR31_ENST00000374195.3_Missense_Mutation_p.G199A|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	324										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GGGTCCTGATCCATCCAGAGA	0.483													17	32					0	0	0	0	G	116079162	C	G	116079162	3	3	172	1	0	0	0	0	1	0	0	0	17382	855	30	2	136	2	WDR31	9	116079162	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	27831538	116079162	25134269	177	30425											
ZNF618	114991	broad.mit.edu	37	chr9	116812166	116812166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgccgtcgagaaccccGcagctcaggaagatgatcgg	9	6	13	13	4	1	3	1	1	0	2	3	5	1	4	3	2	4	3	3	2	2	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:116812166G>A	ENST00000288466.7	+	14	2404	c.2305G>A	c.(2305-2307)Gca>Aca	p.A769T	ZNF618_ENST00000374126.5_Missense_Mutation_p.A862T|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	862					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGAGAACCCCGCAGCTCAGGA	0.597													6	108					0	0	0	0	A	116812166	G	A	116812166	3	1	172	1	0	0	0	0	1	0	0	0	18137	1087	38	1	2359	1	ZNF618	9	116812166	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	733004	116812166	24401265	178	30426											
LRSAM1	90678	broad.mit.edu	37	chr9	130263293	130263293	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctggtccccacagagctGaaaccaccaatgggtgaggt	10	8	12	11	0	1	3	0	2	1	1	2	3	2	3	4	3	2	1	4	3	2	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:130263293G>A	ENST00000323301.4	+	24	2521	c.1917G>A	c.(1915-1917)ctG>ctA	p.L639L	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Silent_p.L639L|LRSAM1_ENST00000373324.4_Silent_p.L612L|LRSAM1_ENST00000300417.6_Silent_p.L639L	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	639					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CCACAGAGCTGAAACCACCAA	0.647													20	71					0	0	0	0	A	130263293	G	A	130263293	2	1	172	1	0	0	0	0	0	0	0	1	9107	1277	45	2		2	LRSAM1	9	130263293	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	13451127	130263293	10950138	179	30427											
FAM129B	64855	broad.mit.edu	37	chr9	130270171	130270171	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatgtccttcatgacggtCtgcagcaccacctcctcgta	8	10	9	14	2	2	1	1	1	1	0	5	2	4	2	4	2	2	3	4	2	1	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:130270171C>G	ENST00000373312.3	-	13	1842	c.1629G>C	c.(1627-1629)caG>caC	p.Q543H	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.Q530H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	543							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TCATGACGGTCTGCAGCACCA	0.642													13	95					0	0	0	0	G	130270171	C	G	130270171	3	3	172	1	0	0	0	0	1	0	0	0	5478	912	32	2	619	2	FAM129B	9	130270171	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	6878	130270171	10943260	180	30428											
C9orf96	169436	broad.mit.edu	37	chr9	136260786	136260786	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccaggcagcctgaaggcCgtcctgaagacaatggagga	12	4	14	11	1	0	3	0	2	0	1	1	5	1	5	4	4	2	1	4	4	3	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:136260786C>A	ENST00000371957.3	+	9	869	c.762C>A	c.(760-762)gcC>gcA	p.A254A	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	254	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCTGAAGGCCGTCCTGAAGA	0.557													29	66					3.65163e-15	6.57117e-15	1	0	A	136260786	C	A	136260786	2	1	172	1	0	0	0	0	0	0	0	1	2533	639	23	3		3	C9orf96	9	136260786	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	5990615	136260786	4952645	181	30429											
FRMD4A	55691	broad.mit.edu	37	chr10	13698869	13698869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccctcgcggcccagcgacGgagtccgcaggatctgcgat	6	5	14	16	7	1	0	0	0	1	0	3	4	2	2	3	3	2	1	3	3	0	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:13698869G>A	ENST00000357447.2	-	22	3088	c.2720C>T	c.(2719-2721)cCg>cTg	p.P907L	FRMD4A_ENST00000358621.4_Missense_Mutation_p.P892L|FRMD4A_ENST00000378503.1_Missense_Mutation_p.P907L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	907						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCCCAGCGACGGAGTCCGCAG	0.751													6	10					0	0	0	0	A	13698869	G	A	13698869	3	1	172	1	0	0	0	0	1	0	0	0	6099	1116	39	1	411	1	FRMD4A	10	13698869	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08		13698869	121835878	182	30430											
MARCH8	220972	broad.mit.edu	37	chr10	45956749	45956749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctcgcagcagcgcgtgtcgGagctcttgatccactgctgc	5	9	13	14	4	1	1	0	1	1	0	4	2	2	2	1	1	5	5	1	1	0	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:45956749G>A	ENST00000453424.2	-	6	1460	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	MARCH8_ENST00000395769.2_Missense_Mutation_p.S118F|MARCH8_ENST00000395771.3_Missense_Mutation_p.S118F|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000319836.3_Missense_Mutation_p.S118F			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	118						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	p.S118F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						GCGCGTGTCGGAGCTCTTGAT	0.572													5	45					0	0	0	0	A	45956749	G	A	45956749	3	1	172	1	0	0	0	0	1	0	0	0	9376	1174	41	2	534	2	MARCH8	10	45956749	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	32257880	45956749	89577998	183	30431											
NDST2	8509	broad.mit.edu	37	chr10	75567373	75567373	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgggaagccgggcccgAcgaagaactggtcctggcac	10	4	15	12	3	0	1	0	0	0	1	1	4	1	2	3	4	2	1	3	4	3	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:75567373A>G	ENST00000299641.4	-	4	1375	c.405T>C	c.(403-405)cgT>cgC	p.R135R	NDST2_ENST00000309979.6_Silent_p.R258R	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	258	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GCCGGGCCCGACGAAGAACTG	0.557													8	36					0	0	0	0	G	75567373	A	G	75567373	2	3	172	1	0	0	0	0	0	0	0	1	10326	262	10	5		5	NDST2	10	75567373	Silent	SNP	A	TCGA-CR-5248-01A-01D-2012-08	29610624	75567373	59967374	184	30432											
CAMK2G	818	broad.mit.edu	37	chr10	75608802	75608802	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgctgctctccctgtacttcGatggctaggccaaaatcagc	8	11	9	13	1	2	0	1	0	1	0	4	1	2	0	2	2	4	4	2	2	4	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:75608802G>C	ENST00000423381.1	-	7	609	c.486C>G	c.(484-486)atC>atG	p.I162M	CAMK2G_ENST00000372765.1_Missense_Mutation_p.I162M|CAMK2G_ENST00000351293.3_Missense_Mutation_p.I162M|CAMK2G_ENST00000305762.7_Missense_Mutation_p.I162M|CAMK2G_ENST00000322680.3_Missense_Mutation_p.I162M|CAMK2G_ENST00000322635.3_Missense_Mutation_p.I162M|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Missense_Mutation_p.I162M	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	162	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CCTGTACTTCGATGGCTAGGC	0.562											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	111					0	0	0	0	C	75608802	G	C	75608802	3	2	172	1	0	0	0	0	1	0	0	0	2627	1048	37	3	1344	3	CAMK2G	10	75608802	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	41429	75608802	59925945	185	30433											
ZMIZ1	57178	broad.mit.edu	37	chr10	81063878	81063878	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtctctgaagtgccccatCacattccggcgcatccagct	7	10	9	15	2	2	1	1	1	1	0	5	1	4	1	4	1	2	2	4	1	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:81063878C>T	ENST00000334512.5	+	19	2804	c.2232C>T	c.(2230-2232)atC>atT	p.I744I		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	744					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGTGCCCCATCACATTCCGGC	0.612													10	33					0	0	0	0	T	81063878	C	T	81063878	2	4	172	1	0	0	0	0	0	0	0	1	17791	816	29	2		2	ZMIZ1	10	81063878	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	5455076	81063878	54470869	186	30434											
PLCE1	51196	broad.mit.edu	37	chr10	96005912	96005912	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaccaggacacacacctctCtgcccgctgcttcctccagc	7	7	7	20	2	1	0	0	0	1	0	4	2	3	1	5	1	3	2	5	1	0	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:96005912C>G	ENST00000260766.3	+	8	3264	c.2630C>G	c.(2629-2631)tCt>tGt	p.S877C	PLCE1_ENST00000371385.3_Missense_Mutation_p.S569C|PLCE1_ENST00000371380.2_Missense_Mutation_p.S877C|PLCE1_ENST00000371375.1_Missense_Mutation_p.S569C	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	877					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACACACCTCTCTGCCCGCTGC	0.582													3	49					0	0	0	0	G	96005912	C	G	96005912	3	3	172	1	0	0	0	0	1	0	0	0	12106	913	32	2	2942	2	PLCE1	10	96005912	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	14942034	96005912	39528835	187	30435											
NOC3L	64318	broad.mit.edu	37	chr10	96109029	96109029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggcctaacttcgtaatttCtgcccttcacaaaaccagaa	12	11	5	13	1	2	1	1	0	1	1	3	1	2	1	3	1	3	1	3	1	5	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:96109029C>G	ENST00000371361.3	-	10	1335	c.1235G>C	c.(1234-1236)aGa>aCa	p.R412T	NOC3L_ENST00000371350.1_Missense_Mutation_p.R412T|NOC3L_ENST00000543788.1_Missense_Mutation_p.R150T|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	412						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTCGTAATTTCTGCCCTTCAC	0.328													13	45					0	0	0	0	G	96109029	C	G	96109029	3	3	172	1	0	0	0	0	1	0	0	0	10584	913	32	2	1215	2	NOC3L	10	96109029	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	103117	96109029	39425718	188	30436											
LCOR	84458	broad.mit.edu	37	chr10	98715469	98715469	+	Frame_Shift_Del	DEL	A	A	-																															atctcagtggttatgagtggAaaaatgagtgtttccaaagc																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:98715469delA	ENST00000540664.1	+	8	1635	c.1092delA	c.(1090-1092)ggfs	p.G364fs	LCOR_ENST00000371097.4_Frame_Shift_Del_p.G364fs|LCOR_ENST00000371103.3_Frame_Shift_Del_p.G364fs|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000356016.3_Frame_Shift_Del_p.G364fs	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TTATGAGTGGAAAAATGAGTG	0.468													9	57	---	---	---	---					-	98715469	A	-	98715469	7	5	172	1	0	1	0	1	0	0	0	0	8742	233	9	0	1102	0	LCOR	10	98715469	Frame_Shift_Del	DEL	A	TCGA-CR-5248-01A-01D-2012-08	2606440	98715469	36819278	189	30437											
RRP12	23223	broad.mit.edu	37	chr10	99131844	99131844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctctaggtagggccGgatggtggagtatagcttac	8	10	14	9	1	2	0	1	0	1	0	2	2	2	2	2	5	2	4	2	5	5	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:99131844G>A	ENST00000370992.4	-	20	2440	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	RRP12_ENST00000315563.6_Missense_Mutation_p.R677W|RRP12_ENST00000414986.1_Missense_Mutation_p.R716W|RRP12_ENST00000536831.1_Missense_Mutation_p.R495W|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	777						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		AGGTAGGGCCGGATGGTGGAG	0.622													12	41					0	0	0	0	A	99131844	G	A	99131844	3	1	172	1	0	0	0	0	1	0	0	0	13771	1115	39	1	1624	1	RRP12	10	99131844	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	416375	99131844	36402903	190	30438											
HMX3	340784	broad.mit.edu	37	chr10	124896741	124896741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaaagcaaaaaggaaggcGaagcggcgccaggcgcggcc	14	0	17	10	5	0	0	0	0	0	0	0	3	0	2	2	6	2	1	2	6	5	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:124896741G>A	ENST00000357878.5	+	2	657	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	190					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AAAGGAAGGCGAAGCGGCGCC	0.652													4	10					0	0	0	0	A	124896741	G	A	124896741	3	1	172	1	0	0	0	0	1	0	0	0	7298	1059	37	1	574	1	HMX3	10	124896741	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	25764897	124896741	10638006	191	30439											
C10orf137	26098	broad.mit.edu	37	chr10	127409947	127409947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccagcaggaactaccattCttggcaacagcaagaaaagc	15	5	10	11	0	1	1	0	0	1	1	1	2	1	2	2	3	6	3	2	3	6	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:127409947C>G	ENST00000337623.3	+	2	388	c.283C>G	c.(283-285)Ctt>Gtt	p.L95V	C10orf137_ENST00000356792.4_Missense_Mutation_p.L95V	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	95			L -> F (in a colorectal cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.L95F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACTACCATTCTTGGCAACAG	0.438													10	53					0	0	0	0	G	127409947	C	G	127409947	3	3	172	1	0	0	0	0	1	0	0	0	1604	913	32	2	289	2	C10orf137	10	127409947	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	2513206	127409947	8124800	192	30440											
LRRC27	80313	broad.mit.edu	37	chr10	134165110	134165110	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaacactctgtaattttaGaaggaagacagcctcctcca	16	9	6	10	0	1	2	0	0	1	2	3	3	3	3	3	1	2	1	3	1	6	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:134165110G>A	ENST00000392638.2	+	8	1216		c.e8-1		LRRC27_ENST00000368610.3_Splice_Site|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Splice_Site|LRRC27_ENST00000368615.3_Splice_Site|LRRC27_ENST00000368612.1_Splice_Site|LRRC27_ENST00000368614.3_Splice_Site|LRRC27_ENST00000344079.5_Splice_Site|LRRC27_ENST00000432555.2_Splice_Site			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TGTAATTTTAGAAGGAAGACA	0.483													63	213					0	0	0	0	A	134165110	G	A	134165110	5	1	172	1	0	0	0	0	0	0	1	0	9045	956	33	2	1047	2	LRRC27	10	134165110	Splice_Site	SNP	G	TCGA-CR-5248-01A-01D-2012-08	6755163	134165110	1369637	193	30441											
SIRT3	23410	broad.mit.edu	37	chr11	236149	236149	+	Frame_Shift_Del	DEL	G	G	-																															aaggggcgcgccgggtccaaGggctcaccgcgggccccatg																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:236149delG	ENST00000382743.4	-	1	282	c.180delC	c.(178-180)ccfs	p.P60fs	SIRT3_ENST00000528702.1_Intron|SIRT3_ENST00000532956.1_Frame_Shift_Del_p.P60fs|SIRT3_ENST00000525319.1_Intron|SIRT3_ENST00000524564.1_Frame_Shift_Del_p.P60fs|SIRT3_ENST00000529382.1_Intron	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	60					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CCGGGTCCAAGGGCTCACCGC	0.701													2	4	---	---	---	---					-	236149	G	-	236149	7	5	172	1	0	1	0	1	0	0	0	0	14427	987	35	0	1047	0	SIRT3	11	236149	Frame_Shift_Del	DEL	G	TCGA-CR-5248-01A-01D-2012-08		236149	134770367	194	30442											
MUC2	4583	broad.mit.edu	37	chr11	1096554	1096554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatcaagaccgtgcatatGatgcccatgcaggtgcaggt	10	9	12	10	1	1	3	1	2	0	1	1	3	1	3	2	2	4	3	2	2	2	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:1096554G>A	ENST00000441003.2	+	34	6606	c.6579G>A	c.(6577-6579)atG>atA	p.M2193I	MUC2_ENST00000361558.6_Missense_Mutation_p.M331I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4555						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGTGCATATGATGCCCATGC	0.637													5	20					0	0	0	0	A	1096554	G	A	1096554	3	1	172	1	0	0	0	0	1	0	0	0	10045	1290	45	2	6705	2	MUC2	11	1096554	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	860405	1096554	133909962	195	30443											
OR52K2	119774	broad.mit.edu	37	chr11	4470668	4470668	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctggatctccatccctttCtgcttagcatatacactggc	8	14	6	13	0	3	0	0	0	3	0	5	1	4	1	2	2	3	2	2	2	3	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:4470668C>G	ENST00000325719.4	+	1	144	c.99C>G	c.(97-99)ttC>ttG	p.F33L		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCCCTTTCTGCTTAGCAT	0.517													7	70					0	0	0	0	G	4470668	C	G	4470668	3	3	172	1	0	0	0	0	1	0	0	0	11195	912	32	2	101	2	OR52K2	11	4470668	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3374114	4470668	130535848	196	30444											
CNGA4	1262	broad.mit.edu	37	chr11	6262988	6262988	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagggctctactttggggaGatcagcatcatcaacatcaa	12	9	10	10	0	5	1	4	0	1	1	5	2	5	1	0	3	3	3	0	3	3	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:6262988G>A	ENST00000379936.2	+	5	1360	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E	CNGA4_ENST00000533426.1_Silent_p.E184E	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	415					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTTGGGGAGATCAGCATCA	0.552													41	69					0	0	0	0	A	6262988	G	A	6262988	2	1	172	1	0	0	0	0	0	0	0	1	3629	933	33	2		2	CNGA4	11	6262988	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1792320	6262988	128743528	197	30445											
ILK	3611	broad.mit.edu	37	chr11	6629392	6629392	+	Frame_Shift_Del	DEL	C	C	-																															aatgaaccgtggggatgacaCccccctgcatctggcagcca																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:6629392delC	ENST00000396751.2	+	2	662	c.206delC	c.(205-207)acfs	p.T69fs	ILK_ENST00000299421.4_Frame_Shift_Del_p.T69fs|ILK_ENST00000528995.1_Frame_Shift_Del_p.T69fs|ILK_ENST00000420936.2_Frame_Shift_Del_p.T69fs|ILK_ENST00000537806.1_Intron	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	69	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	p.L71fs*26(1)		central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GGGGATGACACCCCCCTGCAT	0.557													14	52	---	---	---	---					-	6629392	C	-	6629392	7	5	172	1	0	1	0	1	0	0	0	0	7766	507	18	0	212	0	ILK	11	6629392	Frame_Shift_Del	DEL	C	TCGA-CR-5248-01A-01D-2012-08	366404	6629392	128377124	198	30446											
SBF2	81846	broad.mit.edu	37	chr11	9810748	9810748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggctccgtggcccagcttCtccagccaggtcagagtctt	5	10	11	15	1	3	1	1	0	2	1	5	1	4	1	4	3	2	2	4	3	0	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:9810748C>T	ENST00000256190.8	-	35	4977	c.4840G>A	c.(4840-4842)Gaa>Aaa	p.E1614K	SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1614					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGCCCAGCTTCTCCAGCCAGG	0.537													15	50					0	0	0	0	T	9810748	C	T	9810748	3	4	172	1	0	0	0	0	1	0	0	0	13945	922	32	2	733	2	SBF2	11	9810748	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3181356	9810748	125195768	199	30447											
SBF2	81846	broad.mit.edu	37	chr11	9810835	9810835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgtggacagggtctcttCtatgtagtaatcccacttct	7	14	9	11	0	3	0	0	0	3	0	5	1	4	1	2	2	0	2	2	2	3	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:9810835C>T	ENST00000256190.8	-	35	4890	c.4753G>A	c.(4753-4755)Gaa>Aaa	p.E1585K	SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1585					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AGGGTCTCTTCTATGTAGTAA	0.488													19	75					0	0	0	0	T	9810835	C	T	9810835	3	4	172	1	0	0	0	0	1	0	0	0	13945	922	32	2	820	2	SBF2	11	9810835	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	87	9810835	125195681	200	30448											
CCDC73	493860	broad.mit.edu	37	chr11	32635181	32635181	+	Frame_Shift_Del	DEL	T	T	-																															gtatactggagttttctcagTttttttatctgaagttgaaa																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:32635181delT	ENST00000335185.5	-	16	2726	c.2683delA	c.(2683-2685)ctfs	p.T895fs		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	895										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GTTTTCTCAGTTTTTTTATCT	0.403													13	101	---	---	---	---					-	32635181	T	-	32635181	7	5	172	1	0	1	0	1	0	0	0	0	2873	1725	60	0	568	0	CCDC73	11	32635181	Frame_Shift_Del	DEL	T	TCGA-CR-5248-01A-01D-2012-08	22824346	32635181	102371335	201	30449											
OR4C46	119749	broad.mit.edu	37	chr11	51515816	51515816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatcactttatgtgtgatCtgaaccctttgctcaacctc	9	15	6	11	0	3	3	2	2	1	1	4	3	3	3	2	0	3	1	2	0	4	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:51515816C>T	ENST00000328188.1	+	1	535	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TATGTGTGATCTGAACCCTTT	0.458													23	98					0	0	0	0	T	51515816	C	T	51515816	2	4	172	1	0	0	0	0	0	0	0	1	11122	912	32	2		2	OR4C46	11	51515816	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	18880635	51515816	83490700	202	30450											
APLNR	187	broad.mit.edu	37	chr11	57003609	57003609	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaggtgcagtaggggaaGatgttcatgaggaagaggtc	12	8	17	4	0	1	3	1	1	0	2	2	5	1	5	0	5	2	4	0	5	3	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:57003609G>T	ENST00000606794.1	-	1	1066	c.870C>A	c.(868-870)atC>atA	p.I290I		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	290						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGTAGGGGAAGATGTTCATGA	0.587													5	46					1.23904e-05	2.13184e-05	1	0	T	57003609	G	T	57003609	2	4	172	1	0	0	0	0	0	0	0	1	779	932	33	2		2	APLNR	11	57003609	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	5487793	57003609	78002907	203	30451											
OR5B17	219965	broad.mit.edu	37	chr11	58125821	58125821	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaaatggcaatgaggtgaGaaccacaggtagataaaggc	18	5	13	5	0	0	4	0	2	0	3	0	5	0	4	1	4	1	2	1	4	7	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:58125821G>C	ENST00000357377.3	-	1	721	c.722C>G	c.(721-723)tCt>tGt	p.S241C		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AATGAGGTGAGAACCACAGGT	0.393													8	29					0	0	0	0	C	58125821	G	C	58125821	3	2	172	1	0	0	0	0	1	0	0	0	11220	942	33	2	224	2	OR5B17	11	58125821	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1122212	58125821	76880695	204	30452											
DAGLA	747	broad.mit.edu	37	chr11	61511546	61511546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgggcgcctgggggactCgcccagtcctcaggtgctgg	5	7	16	13	2	1	0	1	0	0	0	3	1	2	1	3	5	1	1	3	5	1	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:61511546C>T	ENST00000257215.5	+	20	2830	c.2714C>T	c.(2713-2715)tCg>tTg	p.S905L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	905					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGGGGGACTCGCCCAGTCCT	0.652													9	37					0	0	0	0	T	61511546	C	T	61511546	3	4	172	1	0	0	0	0	1	0	0	0	4259	893	31	1	2788	1	DAGLA	11	61511546	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3385725	61511546	73494970	205	30453											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62490138	62490138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctcaaattgtccattttCtgccttgagtcctcgtccat	6	17	5	13	1	2	1	1	1	1	0	7	1	6	1	5	0	1	0	5	0	1	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:62490138C>G	ENST00000301785.5	-	6	1222	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E344Q	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	344	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGTCCATTTTCTGCCTTGAGT	0.428													13	55					0	0	0	0	G	62490138	C	G	62490138	3	3	172	1	0	0	0	0	1	0	0	0	7325	922	32	2	1249	2	HNRNPUL2	11	62490138	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	978592	62490138	72516378	206	30454											
FKBP2	2286	broad.mit.edu	37	chr11	64009964	64009964	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaagctgcagatcggggtCaagaagcgggtggaccactg	11	5	17	8	2	1	2	1	0	0	2	2	4	1	4	1	5	3	2	1	5	3	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:64009964C>G	ENST00000394540.3	+	2	575	c.105C>G	c.(103-105)gtC>gtG	p.V35V	FKBP2_ENST00000309366.4_Silent_p.V35V|FKBP2_ENST00000449942.2_Silent_p.V35V	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	35					protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(2)|lung(3)	5						AGATCGGGGTCAAGAAGCGGG	0.632													7	76					0	0	0	0	G	64009964	C	G	64009964	2	3	172	1	0	0	0	0	0	0	0	1	5953	813	29	2		2	FKBP2	11	64009964	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1519826	64009964	70996552	207	30455											
CDCA5	113130	broad.mit.edu	37	chr11	64851416	64851416	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgctcaccggagcgctgaGcggctcctccggaccgcgtt	4	7	13	17	7	1	1	1	1	0	0	4	3	4	3	5	3	2	4	5	3	0	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:64851416G>C	ENST00000275517.3	-	1	207	c.35C>G	c.(34-36)gCt>gGt	p.A12G	CDCA5_ENST00000404147.3_Missense_Mutation_p.A12G	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	12					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGAGCGCTGAGCGGCTCCTCC	0.721													14	51					0	0	0	0	C	64851416	G	C	64851416	3	2	172	1	0	0	0	0	1	0	0	0	3118	971	34	4	747	4	CDCA5	11	64851416	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	841452	64851416	70155100	208	30456											
ZNHIT2	741	broad.mit.edu	37	chr11	64884391	64884391	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cccagggctccggaaacgccGagcagtgtggcacagaagtc	10	4	14	13	3	0	1	0	0	0	1	2	3	1	2	3	3	2	3	3	3	2	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:64884391G>C	ENST00000310597.4	-	1	779	c.735C>G	c.(733-735)ctC>ctG	p.L245L		NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	245							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CGGAAACGCCGAGCAGTGTGG	0.662													7	13					0	0	0	0	C	64884391	G	C	64884391	2	2	172	1	0	0	0	0	0	0	0	1	18300	1045	37	3		3	ZNHIT2	11	64884391	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	32975	64884391	70122125	209	30457											
MAP3K11	4296	broad.mit.edu	37	chr11	65380700	65380700	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagccttgagggcaatGatgttggggtgtgccagcat	9	9	14	9	0	0	2	0	2	0	0	0	2	0	2	2	3	3	3	2	3	1	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:65380700G>T	ENST00000309100.3	-	1	1013	c.528C>A	c.(526-528)atC>atA	p.I176I		NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	176	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						TGAGGGCAATGATGTTGGGGT	0.667													7	51					0.00307968	0.00517914	1	0	T	65380700	G	T	65380700	2	4	172	1	0	0	0	0	0	0	0	1	9314	1280	45	2		2	MAP3K11	11	65380700	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	496309	65380700	69625816	210	30458											
RPS6KB2	6199	broad.mit.edu	37	chr11	67200087	67200087	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtggcgagctcttcacGcatctggagcgagagggcat	8	7	16	10	3	3	1	1	0	2	1	3	4	3	2	0	4	2	4	0	4	0	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:67200087G>A	ENST00000312629.5	+	6	519	c.474G>A	c.(472-474)acG>acA	p.T158T	RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	158	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGCTCTTCACGCATCTGGAGC	0.567													22	74					0	0	0	0	A	67200087	G	A	67200087	2	1	172	1	0	0	0	0	0	0	0	1	13742	1074	38	1		1	RPS6KB2	11	67200087	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1819387	67200087	67806429	211	30459											
PPFIA1	8500	broad.mit.edu	37	chr11	70208451	70208451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcaaacgtgaaaagcGgggccatcatgtcggccctg	10	5	14	12	4	1	1	1	1	0	0	2	2	1	1	3	3	3	1	3	3	3	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:70208451G>A	ENST00000253925.7	+	21	2937	c.2722G>A	c.(2722-2724)Ggg>Agg	p.G908R	PPFIA1_ENST00000389547.3_Missense_Mutation_p.G908R|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	908	SAM 1.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGTGAAAAGCGGGGCCATCAT	0.607													24	142					0	0	0	0	A	70208451	G	A	70208451	3	1	172	1	0	0	0	0	1	0	0	0	12380	1116	39	1	2800	1	PPFIA1	11	70208451	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	3008364	70208451	64798065	212	30460											
FOLR1	2348	broad.mit.edu	37	chr11	71903275	71903275	+	Frame_Shift_Del	DEL	G	G	-																															tagtgtgggtggctgtagtaGgggaggctcagacaaggatt																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:71903275delG	ENST00000393679.1	+	2	494	c.58delG	c.(58-60)ggfs	p.G20fs	FOLR1_ENST00000312293.4_Frame_Shift_Del_p.G20fs|FOLR1_ENST00000393676.3_Frame_Shift_Del_p.G20fs|FOLR1_ENST00000393681.2_Frame_Shift_Del_p.G20fs|RP11-807H22.7_ENST00000378140.3_RNA			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	20					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						GGCTGTAGTAGGGGAGGCTCA	0.552													18	129	---	---	---	---					-	71903275	G	-	71903275	7	5	172	1	0	1	0	1	0	0	0	0	6026	1000	35	0	60	0	FOLR1	11	71903275	Frame_Shift_Del	DEL	G	TCGA-CR-5248-01A-01D-2012-08	1694824	71903275	63103241	213	30461											
YAP1	10413	broad.mit.edu	37	chr11	101981721	101981721	+	Frame_Shift_Del	DEL	C	C	-																															cccaggcggcgccgcaggcaCcccccgccgggcatcagatc																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:101981721delC	ENST00000282441.5	+	1	530	c.142delC	c.(142-144)ccfs	p.P49fs	YAP1_ENST00000345877.2_Frame_Shift_Del_p.P49fs|YAP1_ENST00000537274.1_Frame_Shift_Del_p.P49fs|YAP1_ENST00000531439.1_Frame_Shift_Del_p.P49fs|YAP1_ENST00000526343.1_Frame_Shift_Del_p.P49fs	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Yes-associated protein 1	49	Pro-rich.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	p.A50fs*62(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GCCGCAGGCACCCCCCGCCGG	0.761													5	9	---	---	---	---					-	101981721	C	-	101981721	7	5	172	1	0	1	0	1	0	0	0	0	17562	507	18	0	144	0	YAP1	11	101981721	Frame_Shift_Del	DEL	C	TCGA-CR-5248-01A-01D-2012-08	30078446	101981721	33024795	214	30462											
LAYN	143903	broad.mit.edu	37	chr11	111428359	111428359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatgttgggtttggatctGtagaaaaaggcaagtaaaac	14	12	12	3	0	1	1	0	0	1	1	1	2	1	2	0	3	1	6	0	3	7	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:111428359G>A	ENST00000436913.2	+	5	718	c.317G>A	c.(316-318)tGt>tAt	p.C106Y	LAYN_ENST00000525126.1_Missense_Mutation_p.C259Y|LAYN_ENST00000533265.1_Missense_Mutation_p.C251Y|LAYN_ENST00000375614.2_Missense_Mutation_p.C251Y|LAYN_ENST00000375615.3_Missense_Mutation_p.C259Y|LAYN_ENST00000528924.1_3'UTR	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	259	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GTTTGGATCTGTAGAAAAAGG	0.433													40	422					0	0	0	0	A	111428359	G	A	111428359	3	1	172	1	0	0	0	0	1	0	0	0	8702	1377	48	4	774	4	LAYN	11	111428359	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	9446638	111428359	23578157	215	30463											
CRTAM	56253	broad.mit.edu	37	chr11	122720855	122720855	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaagtgtgtcacttctctGaggaagaactcctccctcca	10	11	7	13	0	2	2	1	1	1	1	6	3	5	3	3	1	1	0	3	1	4	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:122720855G>A	ENST00000227348.4	+	2	173	c.126G>A	c.(124-126)ctG>ctA	p.L42L		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	42	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCACTTCTCTGAGGAAGAACT	0.483													22	29					0	0	0	0	A	122720855	G	A	122720855	2	1	172	1	0	0	0	0	0	0	0	1	3927	1277	45	2		2	CRTAM	11	122720855	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	11292496	122720855	12285661	216	30464											
C12orf4	57102	broad.mit.edu	37	chr12	4639069	4639069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcagctccacatctctttCaccaatcagttctgagatac	10	14	4	13	0	5	1	3	1	2	1	7	2	6	1	2	0	2	2	2	0	2	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:4639069C>T	ENST00000261250.3	-	4	559	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	C12orf4_ENST00000545746.1_Missense_Mutation_p.E158K	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	158										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ACATCTCTTTCACCAATCAGT	0.343													12	59					0	0	0	0	T	4639069	C	T	4639069	3	4	172	1	0	0	0	0	1	0	0	0	1697	835	29	2	1230	2	C12orf4	12	4639069	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08		4639069	129212826	217	30465											
SLC2A3	6515	broad.mit.edu	37	chr12	8074141	8074141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctcaaaagtcctgccacgGgtctcagggactttgaagaa	11	9	10	11	1	2	2	2	1	1	1	5	3	4	3	3	2	1	0	3	2	4	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:8074141G>A	ENST00000075120.7	-	10	1599	c.1359C>T	c.(1357-1359)acC>acT	p.T453T		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	453					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TCCTGCCACGGGTCTCAGGGA	0.488													21	79					0	0	0	0	A	8074141	G	A	8074141	2	1	172	1	0	0	0	0	0	0	0	1	14633	1219	43	4		4	SLC2A3	12	8074141	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	3435072	8074141	125777754	218	30466											
ATF7IP	55729	broad.mit.edu	37	chr12	14578131	14578131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatatcttagaaaatacaGactctatggagacagatgaa	19	9	8	5	0	2	6	0	1	2	5	2	7	2	6	0	1	1	0	0	1	8	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:14578131G>T	ENST00000544627.1	+	2	1626	c.1306G>T	c.(1306-1308)Gac>Tac	p.D436Y	ATF7IP_ENST00000540793.1_Missense_Mutation_p.D428Y|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D428Y|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D428Y|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D428Y			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	428	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGAAAATACAGACTCTATGGA	0.333													9	49					0.00448238	0.00752111	1	0	T	14578131	G	T	14578131	3	4	172	1	0	0	0	0	1	0	0	0	1091	942	33	2	1284	2	ATF7IP	12	14578131	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	6503990	14578131	119273764	219	30467											
C12orf60	144608	broad.mit.edu	37	chr12	14976214	14976214	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtcagctaaagaagtattCaaaagtgcccatacgccagt	15	8	8	10	1	2	1	2	0	0	1	2	1	2	1	2	0	3	2	2	0	7	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:14976214C>G	ENST00000330828.2	+	2	549	c.345C>G	c.(343-345)ttC>ttG	p.F115L	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	115										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						AAGAAGTATTCAAAAGTGCCC	0.433													25	75					0	0	0	0	G	14976214	C	G	14976214	3	3	172	1	0	0	0	0	1	0	0	0	1715	825	29	2	347	2	C12orf60	12	14976214	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	398083	14976214	118875681	220	30468											
ITPR2	3709	broad.mit.edu	37	chr12	26714879	26714879	+	Frame_Shift_Del	DEL	T	T	-																															ctggaatggcaattccacgaTtttttgctgaaaaagaaaga																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:26714879delT	ENST00000381340.3	-	35	5053	c.4637delA	c.(4636-4638)atfs	p.N1546fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1546					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AATTCCACGATTTTTTGCTGA	0.318													7	44	---	---	---	---					-	26714879	T	-	26714879	7	5	172	1	0	1	0	1	0	0	0	0	7974	1493	52	0	3560	0	ITPR2	12	26714879	Frame_Shift_Del	DEL	T	TCGA-CR-5248-01A-01D-2012-08	11738665	26714879	107137016	221	30469											
DDX11	1663	broad.mit.edu	37	chr12	31255377	31255377	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaggcctgtggccaggagaGaggccaggtgacaggggccc	9	3	18	11	0	0	2	0	1	0	1	0	4	0	3	4	7	0	0	4	7	0	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:31255377G>C	ENST00000407793.2	+	23	2539	c.2288G>C	c.(2287-2289)aGa>aCa	p.R763T	DDX11_ENST00000542838.1_Missense_Mutation_p.R763T|DDX11_ENST00000545668.1_Missense_Mutation_p.R763T|DDX11_ENST00000350437.4_Missense_Mutation_p.R713T|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.R737T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	763					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	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)					GGCCAGGAGAGAGGCCAGGTG	0.562										Multiple Myeloma(12;0.14)			28	98					0	0	0	0	C	31255377	G	C	31255377	3	2	172	1	0	0	0	0	1	0	0	0	4375	942	33	2	2374	2	DDX11	12	31255377	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	4540498	31255377	102596518	222	30470											
OR6C76	390326	broad.mit.edu	37	chr12	55820433	55820433	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcattatacaaccatCatgagtgacaggatctgtta	12	12	7	10	0	3	2	1	2	2	0	3	3	3	3	2	1	3	2	2	1	4	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:55820433C>A	ENST00000328314.3	+	1	396	c.396C>A	c.(394-396)atC>atA	p.I132I		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATACAACCATCATGAGTGACA	0.433													22	108					3.76869e-24	6.86474e-24	1	0	A	55820433	C	A	55820433	2	1	172	1	0	0	0	0	0	0	0	1	11271	816	29	2		2	OR6C76	12	55820433	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	24565056	55820433	78031462	223	30471											
ITGA7	3679	broad.mit.edu	37	chr12	56096885	56096885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcctccaggctcaacGggcaagcgaagaggcctcca	10	5	11	15	2	2	1	1	0	1	1	5	2	4	1	4	3	2	2	4	3	3	0	rs143749139	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:56096885G>A	ENST00000257880.7	-	2	503	c.284C>T	c.(283-285)cCg>cTg	p.P95L	ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000257879.6_Missense_Mutation_p.P95L|ITGA7_ENST00000555728.1_Missense_Mutation_p.P95L|ITGA7_ENST00000347027.6_Missense_Mutation_p.P95L|ITGA7_ENST00000394229.2_Missense_Mutation_p.P95L|ITGA7_ENST00000553804.1_Missense_Mutation_p.P95L|ITGA7_ENST00000394230.2_Missense_Mutation_p.P95L			Q13683	ITA7_HUMAN	integrin, alpha 7	95					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGGCTCAACGGGCAAGCGAA	0.652													19	61					0	0	0	0	A	56096885	G	A	56096885	3	1	172	1	0	0	0	0	1	0	0	0	7934	1116	39	1	3403	1	ITGA7	12	56096885	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	276452	56096885	77755010	224	30472											
ESYT1	23344	broad.mit.edu	37	chr12	56522298	56522298	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaggcggttgctggtgctGatacctgtgtatttggccgg	4	12	18	7	2	0	1	0	1	0	0	0	2	0	2	2	6	3	4	2	6	2	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:56522298G>C	ENST00000394048.5	+	1	459	c.195G>C	c.(193-195)ctG>ctC	p.L65L	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000267113.4_Silent_p.L65L|ESYT1_ENST00000541590.1_Silent_p.L65L	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	65						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGCTGGTGCTGATACCTGTGT	0.672													5	15					0	0	0	0	C	56522298	G	C	56522298	2	2	172	1	0	0	0	0	0	0	0	1	5302	1277	45	2		2	ESYT1	12	56522298	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	425413	56522298	77329597	225	30473											
AGAP2	116986	broad.mit.edu	37	chr12	58128428	58128428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggaatcggtggatgagcGatgacttcccactcctggca	9	9	12	11	2	1	2	1	2	0	0	4	5	3	4	2	4	1	1	2	4	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:58128428G>A	ENST00000257897.3	-	3	339	c.254C>T	c.(253-255)tCg>tTg	p.S85L	AGAP2_ENST00000547588.1_Missense_Mutation_p.S421L	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	421					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						GTGGATGAGCGATGACTTCCC	0.537													51	151					0	0	0	0	A	58128428	G	A	58128428	3	1	172	1	0	0	0	0	1	0	0	0	368	1059	37	1	2384	1	AGAP2	12	58128428	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1606130	58128428	75723467	226	30474											
PTPRB	5787	broad.mit.edu	37	chr12	70963581	70963581	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgtgcttgggaatagtctGagagtcaaccttttgactgt	9	13	12	7	1	2	2	1	2	1	1	2	5	2	3	1	1	2	1	1	1	3	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:70963581G>A	ENST00000334414.6	-	14	3552	c.3508C>T	c.(3508-3510)Cag>Tag	p.Q1170*	PTPRB_ENST00000550358.1_Nonsense_Mutation_p.Q1082*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.Q952*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.Q952*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.Q862*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.Q1169*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.Q862*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	952	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGAATAGTCTGAGAGTCAACC	0.547													12	55					0	0	0	0	A	70963581	G	A	70963581	4	1	172	1	0	0	0	0	0	1	0	0	12878	1299	45	2	3223	2	PTPRB	12	70963581	Nonsense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	12835153	70963581	62888314	227	30475											
NAV3	89795	broad.mit.edu	37	chr12	78574787	78574787	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggcagtcattaggactttCtctaaacaatttgaacatca	14	12	6	9	0	3	1	2	1	1	0	4	2	3	2	0	2	2	1	0	2	5	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:78574787C>G	ENST00000397909.2	+	30	5827	c.5654C>G	c.(5653-5655)tCt>tGt	p.S1885C	NAV3_ENST00000266692.7_Missense_Mutation_p.S1686C|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.S1863C|NAV3_ENST00000536525.2_Missense_Mutation_p.S1863C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1885	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTAGGACTTTCTCTAAACAAT	0.483										HNSCC(70;0.22)			21	89					0	0	0	0	G	78574787	C	G	78574787	3	3	172	1	0	0	0	0	1	0	0	0	10255	913	32	2	5702	2	NAV3	12	78574787	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	7611206	78574787	55277108	228	30476											
METAP2	10988	broad.mit.edu	37	chr12	95868071	95868071	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagcagccaagaaaaaaaGacgaaagaagaagaagagca	24	0	12	5	1	0	6	0	0	0	6	0	8	0	7	1	1	3	2	1	1	9	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:95868071G>C	ENST00000323666.5	+	1	345	c.116G>C	c.(115-117)aGa>aCa	p.R39T	METAP2_ENST00000550777.1_Missense_Mutation_p.R39T|METAP2_ENST00000261220.9_Missense_Mutation_p.R39T|METAP2_ENST00000546753.1_Missense_Mutation_p.R39T|METAP2_ENST00000551840.1_Missense_Mutation_p.R39T	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	39	Arg/Lys-rich (basic).				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AAGAAAAAAAGACGAAAGAAG	0.557													15	68					0	0	0	0	C	95868071	G	C	95868071	3	2	172	1	0	0	0	0	1	0	0	0	9556	942	33	2	118	2	METAP2	12	95868071	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	17293284	95868071	37983824	229	30477											
ANKS1B	56899	broad.mit.edu	37	chr12	99793498	99793498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactggcagtaaagcttgtgCaccctgtagatgtgttgatt	9	13	12	7	0	0	2	0	1	0	1	0	3	0	2	1	1	2	6	1	1	3	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:99793498C>T	ENST00000547776.2	-	12	1666	c.1667G>A	c.(1666-1668)tGc>tAc	p.C556Y	ANKS1B_ENST00000547010.1_Missense_Mutation_p.C136Y|ANKS1B_ENST00000329257.7_Missense_Mutation_p.C556Y	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	556						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AAAGCTTGTGCACCCTGTAGA	0.428													25	74					0	0	0	0	T	99793498	C	T	99793498	3	4	172	1	0	0	0	0	1	0	0	0	688	710	25	4	2427	4	ANKS1B	12	99793498	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3925427	99793498	34058397	230	30478											
NAA25	80018	broad.mit.edu	37	chr12	112492367	112492367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctgccacacagtggtctCatcacctagaaccaaaatac	13	7	7	14	0	2	1	2	0	1	1	3	1	2	1	4	2	3	0	4	2	5	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:112492367C>T	ENST00000261745.4	-	14	1701	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	485						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACAGTGGTCTCATCACCTAGA	0.433													9	15					0	0	0	0	T	112492367	C	T	112492367	3	4	172	1	0	0	0	0	1	0	0	0	10191	835	29	2	1509	2	NAA25	12	112492367	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	12698869	112492367	21359528	231	30479											
EP400	57634	broad.mit.edu	37	chr12	132554096	132554096	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggttgcctacgccgcGcagccggcccttaagaccca	9	5	11	16	4	0	2	0	0	0	2	0	2	0	2	5	2	3	2	5	2	3	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:132554096G>A	ENST00000333577.4	+	52	9148	c.9039G>A	c.(9037-9039)gcG>gcA	p.A3013A	EP400_ENST00000389561.2_Silent_p.A2977A|EP400_ENST00000389562.2_Silent_p.A2976A|EP400_ENST00000332482.4_Silent_p.A2940A|EP400_ENST00000330386.6_Silent_p.A2896A			Q96L91	EP400_HUMAN	E1A binding protein p400	3013					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTACGCCGCGCAGCCGGCCC	0.647													18	106					0	0	0	0	A	132554096	G	A	132554096	2	1	172	1	0	0	0	0	0	0	0	1	5187	1074	38	1		1	EP400	12	132554096	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	20061729	132554096	1297799	232	30480											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20235942	20235942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgaacggtcggcagaaGaacgggaccaccgccctcat	13	4	12	12	4	1	3	1	1	0	2	2	4	1	4	3	3	2	1	3	3	4	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr13:20235942G>T	ENST00000361479.5	+	8	1964	c.1896G>T	c.(1894-1896)aaG>aaT	p.K632N	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.K632N	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	632					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GTCGGCAGAAGAACGGGACCA	0.562													33	76					5.91797e-21	1.07534e-20	1	0	T	20235942	G	T	20235942	3	4	172	1	0	0	0	0	1	0	0	0	9797	933	33	2	1926	2	MPHOSPH8	13	20235942	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08		20235942	94933936	233	30481											
MTMR6	9107	broad.mit.edu	37	chr13	25840348	25840348	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattcctcagcgagatcaatGagctgccagccttgtagtcg	9	11	10	11	2	2	2	2	1	0	1	4	3	3	2	3	0	4	2	3	0	3	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr13:25840348G>C	ENST00000381801.5	-	4	1142	c.381C>G	c.(379-381)ctC>ctG	p.L127L	MTMR6_ENST00000540661.1_Silent_p.L127L	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	127	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CGAGATCAATGAGCTGCCAGC	0.393													12	23					0	0	0	0	C	25840348	G	C	25840348	2	2	172	1	0	0	0	0	0	0	0	1	10017	1277	45	2		2	MTMR6	13	25840348	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	5604406	25840348	89329530	234	30482											
MTMR6	9107	broad.mit.edu	37	chr13	25842002	25842002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgcacagttctgaagttCttgcactgtatcacaagggg	12	11	10	8	0	3	1	1	1	2	0	3	1	3	1	0	2	2	5	0	2	4	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr13:25842002C>G	ENST00000381801.5	-	3	980	c.219G>C	c.(217-219)aaG>aaC	p.K73N	MTMR6_ENST00000540661.1_Missense_Mutation_p.K73N	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	73						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTCTGAAGTTCTTGCACTGTA	0.393													12	29					0	0	0	0	G	25842002	C	G	25842002	3	3	172	1	0	0	0	0	1	0	0	0	10017	912	32	2	1694	2	MTMR6	13	25842002	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1654	25842002	89327876	235	30483											
ELF1	1997	broad.mit.edu	37	chr13	41517197	41517197	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaaaaatgcctttctctcGctgggtccacttgatgtatt	8	17	7	9	1	1	1	0	1	1	0	4	1	2	1	2	1	1	2	2	1	4	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr13:41517197G>A	ENST00000239882.3	-	7	1011	c.697C>T	c.(697-699)Cga>Tga	p.R233*	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Nonsense_Mutation_p.R209*	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	233					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CCTTTCTCTCGCTGGGTCCAC	0.408													16	46					0	0	0	0	A	41517197	G	A	41517197	4	1	172	1	0	0	0	0	0	1	0	0	5091	1095	38	1	1174	1	ELF1	13	41517197	Nonsense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	15675195	41517197	73652681	236	30484											
RNASE9	390443	broad.mit.edu	37	chr14	21025129	21025129	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttatcttcttctgggaaatCaaaatctgtatccacctctt	10	17	4	10	0	6	0	1	0	5	0	7	1	7	1	2	1	0	1	2	1	5	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:21025129C>G	ENST00000557068.1	-	4	1825	c.100G>C	c.(100-102)Gat>Cat	p.D34H	RNASE9_ENST00000338904.3_Missense_Mutation_p.D34H|RNASE9_ENST00000557209.1_Missense_Mutation_p.D39H|RNASE9_ENST00000554964.1_Missense_Mutation_p.D34H|RNASE9_ENST00000556208.1_Missense_Mutation_p.D39H|RNASE9_ENST00000555230.1_Missense_Mutation_p.D34H|RNASE9_ENST00000553706.1_Missense_Mutation_p.D39H|RNASE9_ENST00000553541.1_Missense_Mutation_p.D34H|RNASE9_ENST00000429244.2_Missense_Mutation_p.D34H|RNASE9_ENST00000404716.3_Missense_Mutation_p.D39H			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	34						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TCTGGGAAATCAAAATCTGTA	0.438													14	45					0	0	0	0	G	21025129	C	G	21025129	3	3	172	1	0	0	0	0	1	0	0	0	13495	826	29	2	521	2	RNASE9	14	21025129	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08		21025129	86324411	237	30485											
PSMB5	5693	broad.mit.edu	37	chr14	23495350	23495350	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gatcagccacattgtcactgGagactcggatccagccatcc	10	8	9	14	1	2	1	2	0	0	1	5	4	4	2	4	2	2	0	4	2	0	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:23495350G>C	ENST00000361611.6	-	3	1003	c.740C>G	c.(739-741)tCc>tGc	p.S247C	PSMB5_ENST00000493471.2_3'UTR|PSMB5_ENST00000460922.2_3'UTR|PSMB5_ENST00000425762.2_Missense_Mutation_p.S144C	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	247					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	ATTGTCACTGGAGACTCGGAT	0.552													4	158					0	0	0	0	C	23495350	G	C	23495350	3	2	172	1	0	0	0	0	1	0	0	0	12759	1174	41	2	55	2	PSMB5	14	23495350	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	2470221	23495350	83854190	238	30486											
AKAP6	9472	broad.mit.edu	37	chr14	33147558	33147558	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagcacaaagagatgcTgttgagcagatgtccctcaa	13	8	11	9	0	1	3	1	1	0	2	2	5	2	4	1	1	3	4	1	1	3	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:33147558T>G	ENST00000280979.4	+	8	2942	c.2772T>G	c.(2770-2772)gcT>gcG	p.A924A	AKAP6_ENST00000557354.1_Silent_p.A924A|AKAP6_ENST00000557272.1_Silent_p.A924A	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	924					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)		AAAGAGATGCTGTTGAGCAGA	0.438													4	23					0	0	0	0	G	33147558	T	G	33147558	2	3	172	1	0	0	0	0	0	0	0	1	455	1567	55	5		5	AKAP6	14	33147558	Silent	SNP	T	TCGA-CR-5248-01A-01D-2012-08	9652208	33147558	74201982	239	30487											
AKAP6	9472	broad.mit.edu	37	chr14	33293569	33293569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaatctgcagttcccagcGaagctgcaatgccactacaa	13	8	8	12	1	1	1	0	1	1	0	2	2	2	1	2	0	6	4	2	0	5	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:33293569G>A	ENST00000280979.4	+	13	6720	c.6550G>A	c.(6550-6552)Gaa>Aaa	p.E2184K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2184					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)		AGTTCCCAGCGAAGCTGCAAT	0.458													8	22					0	0	0	0	A	33293569	G	A	33293569	3	1	172	1	0	0	0	0	1	0	0	0	455	1059	37	1	6596	1	AKAP6	14	33293569	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	146011	33293569	74055971	240	30488											
L2HGDH	79944	broad.mit.edu	37	chr14	50750625	50750625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggactttctttagccatttCaataccttttacttcaaaat	12	17	3	9	0	3	0	2	0	1	0	3	1	3	1	2	1	3	0	2	1	6	8			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:50750625C>T	ENST00000267436.4	-	5	1064	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	L2HGDH_ENST00000261699.4_Missense_Mutation_p.E223K|L2HGDH_ENST00000555610.1_3'UTR|L2HGDH_ENST00000421284.3_Missense_Mutation_p.E223K|L2HGDH_ENST00000555423.1_Missense_Mutation_p.E223K			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	223					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TTAGCCATTTCAATACCTTTT	0.418													19	55					0	0	0	0	T	50750625	C	T	50750625	3	4	172	1	0	0	0	0	1	0	0	0	8643	835	29	2	748	2	L2HGDH	14	50750625	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	17457056	50750625	56598915	241	30489											
PYGL	5836	broad.mit.edu	37	chr14	51411035	51411035	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgccggttgaaactcttCttcagctctgccacgttctc	6	13	9	13	2	5	1	1	1	4	0	6	1	5	1	2	2	4	3	2	2	1	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:51411035C>T	ENST00000216392.7	-	1	419	c.87G>A	c.(85-87)aaG>aaA	p.K29K	PYGL_ENST00000532462.1_Silent_p.K29K|PYGL_ENST00000544180.2_Silent_p.K29K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	29					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TGAAACTCTTCTTCAGCTCTG	0.667													18	38					0	0	0	0	T	51411035	C	T	51411035	2	4	172	1	0	0	0	0	0	0	0	1	12943	912	32	2		2	PYGL	14	51411035	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	660410	51411035	55938505	242	30490											
ADAM20	8748	broad.mit.edu	37	chr14	70991263	70991263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctcatgtggacaatgtatCtctgtcccccaaaccgcagg	9	9	8	15	1	2	0	1	0	1	0	4	1	3	1	4	2	1	2	4	2	3	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:70991263C>G	ENST00000256389.3	-	2	606	c.362G>C	c.(361-363)aGa>aCa	p.R121T	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	71					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GACAATGTATCTCTGTCCCCC	0.532													23	73					0	0	0	0	G	70991263	C	G	70991263	3	3	172	1	0	0	0	0	1	0	0	0	242	913	32	2	1972	2	ADAM20	14	70991263	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	19580228	70991263	36358277	243	30491											
ADAM20	8748	broad.mit.edu	37	chr14	70991307	70991307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagagccatccaggagcCtttgcacctctgcccctgct	7	9	10	15	0	1	1	0	0	1	1	2	3	2	2	6	2	5	2	6	2	1	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:70991307C>A	ENST00000256389.3	-	2	562	c.318G>T	c.(316-318)aaG>aaT	p.K106N	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	56					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ATCCAGGAGCCTTTGCACCTC	0.522													22	69					1.50039e-11	2.66776e-11	1	0	A	70991307	C	A	70991307	3	1	172	1	0	0	0	0	1	0	0	0	242	680	24	4	2016	4	ADAM20	14	70991307	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	44	70991307	36358233	244	30492											
PCNX	22990	broad.mit.edu	37	chr14	71576209	71576209	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggaagggatcaacctgtCtaaaaggaaagagctacagt	15	8	11	7	0	3	1	1	0	2	1	3	4	3	4	1	3	3	1	1	3	6	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:71576209C>G	ENST00000304743.2	+	35	7231	c.6785C>G	c.(6784-6786)tCt>tGt	p.S2262C	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.S2151C|PCNX_ENST00000238570.5_Missense_Mutation_p.S2190C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2262						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATCAACCTGTCTAAAAGGAAA	0.408													11	37					0	0	0	0	G	71576209	C	G	71576209	3	3	172	1	0	0	0	0	1	0	0	0	11662	913	32	2	6923	2	PCNX	14	71576209	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	584902	71576209	35773331	245	30493											
PCNX	22990	broad.mit.edu	37	chr14	71576247	71576247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcctgatgaaggaatcCggttaaaagctgggagaaat	14	8	14	5	1	0	3	0	2	0	1	1	5	1	4	2	4	1	2	2	4	5	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:71576247C>T	ENST00000304743.2	+	35	7269	c.6823C>T	c.(6823-6825)Cgg>Tgg	p.R2275W	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.R2164W|PCNX_ENST00000238570.5_Missense_Mutation_p.R2203W	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2275						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGAAGGAATCCGGTTAAAAGC	0.473													12	47					0	0	0	0	T	71576247	C	T	71576247	3	4	172	1	0	0	0	0	1	0	0	0	11662	643	23	1	6961	1	PCNX	14	71576247	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	38	71576247	35773293	246	30494											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055532	72055532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagtcatcagatcttgaaGataaccgatcagaagactct	15	9	9	8	1	5	5	3	1	2	4	5	7	5	6	1	1	1	0	1	1	4	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:72055532G>A	ENST00000555818.1	+	2	1291	c.943G>A	c.(943-945)Gat>Aat	p.D315N	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D315N|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D315N	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	315					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGATCTTGAAGATAACCGATC	0.408													14	50					0	0	0	0	A	72055532	G	A	72055532	3	1	172	1	0	0	0	0	1	0	0	0	14417	942	33	2	945	2	SIPA1L1	14	72055532	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	479285	72055532	35294008	247	30495											
TMED10	10972	broad.mit.edu	37	chr14	75643164	75643164	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcacggaggcacttgcgaGagttaatgggcagatggaag	11	7	15	8	2	1	2	1	0	0	2	1	5	1	4	1	4	1	3	1	4	2	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:75643164G>C	ENST00000303575.4	-	1	170	c.119C>G	c.(118-120)tCt>tGt	p.S40C		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	40					protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		GCACTTGCGAGAGTTAATGGG	0.622													5	100					0	0	0	0	C	75643164	G	C	75643164	3	2	172	1	0	0	0	0	1	0	0	0	16097	942	33	2	560	2	TMED10	14	75643164	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	3587632	75643164	31706376	248	30496											
VASH1	22846	broad.mit.edu	37	chr14	77239553	77239553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaagccgtgatcctgggaAtgtatccttcctcacctgaa	9	11	10	11	1	1	2	1	2	0	0	4	4	4	4	5	2	1	1	5	2	4	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:77239553A>G	ENST00000554237.1	+	4	1022	c.529A>G	c.(529-531)Atg>Gtg	p.M177V	VASH1_ENST00000556038.1_3'UTR|VASH1_ENST00000167106.4_Splice_Site_p.I177_splice			Q7L8A9	VASH1_HUMAN	vasohibin 1	177					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GATCCTGGGAATGTATCCTTC	0.582													12	35					0	0	0	0	G	77239553	A	G	77239553	3	3	172	1	0	0	0	0	1	0	0	0	17221	115	4	5	543	5	VASH1	14	77239553	Missense_Mutation	SNP	A	TCGA-CR-5248-01A-01D-2012-08	1596389	77239553	30109987	249	30497											
SETD3	84193	broad.mit.edu	37	chr14	99925500	99925500	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcattagcaattttcgtggaAcccataaaaacaattcttct	14	14	4	9	1	3	0	1	0	2	0	4	1	3	1	1	1	3	1	1	1	7	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:99925500A>G	ENST00000331768.5	-	5	527	c.368T>C	c.(367-369)gTt>gCt	p.V123A	SETD3_ENST00000436070.2_Missense_Mutation_p.V123A|SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000329331.3_Missense_Mutation_p.V123A	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	123	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TTTTCGTGGAACCCATAAAAA	0.343													12	92					0	0	0	0	G	99925500	A	G	99925500	3	3	172	1	0	0	0	0	1	0	0	0	14219	43	2	5	1498	5	SETD3	14	99925500	Missense_Mutation	SNP	A	TCGA-CR-5248-01A-01D-2012-08	22685947	99925500	7424040	250	30498											
ZNF839	55778	broad.mit.edu	37	chr14	102805529	102805529	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaacagcagaggccgggaGaagcccaggcccttgcatgc	10	3	14	14	1	0	2	0	0	0	2	0	3	0	2	4	3	5	2	4	3	2	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:102805529G>A	ENST00000262236.5	+	7	1903	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000558850.1_Silent_p.E516E|ZNF839_ENST00000442396.2_Silent_p.E632E|ZNF839_ENST00000559185.1_Silent_p.E516E	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	516						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGGCCGGGAGAAGCCCAGGC	0.582													6	23					0	0	0	0	A	102805529	G	A	102805529	2	1	172	1	0	0	0	0	0	0	0	1	18281	933	33	2		2	ZNF839	14	102805529	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	2880029	102805529	4544011	251	30499											
TECPR2	9895	broad.mit.edu	37	chr14	102901519	102901519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgagccggctgggtgcaGaggacgccgggctgctcaag	7	5	17	12	3	1	2	1	1	0	1	1	3	1	3	3	4	3	4	3	4	1	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:102901519G>C	ENST00000359520.7	+	9	2591	c.2365G>C	c.(2365-2367)Gag>Cag	p.E789Q	TECPR2_ENST00000558678.1_Missense_Mutation_p.E789Q	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	789							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCTGGGTGCAGAGGACGCCGG	0.552													19	92					0	0	0	0	C	102901519	G	C	102901519	3	2	172	1	0	0	0	0	1	0	0	0	15838	943	33	2	2395	2	TECPR2	14	102901519	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	95990	102901519	4448021	252	30500											
CKB	1152	broad.mit.edu	37	chr14	103986510	103986510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcacctccgagaacttctCatgcttgcccaggttgggca	9	9	10	13	1	1	1	1	0	1	1	3	2	2	1	3	2	4	4	3	2	2	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:103986510C>T	ENST00000348956.2	-	7	1273	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	306	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GAGAACTTCTCATGCTTGCCC	0.632													8	40					0	0	0	0	T	103986510	C	T	103986510	3	4	172	1	0	0	0	0	1	0	0	0	3476	835	29	2	237	2	CKB	14	103986510	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1084991	103986510	3363030	253	30501											
PPP1R13B	23368	broad.mit.edu	37	chr14	104209072	104209072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgacagacccctccacgctCggatccttccagtctgcacc	7	9	7	18	2	1	2	0	1	1	1	5	3	4	3	6	1	1	2	6	1	0	2	rs12891833		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:104209072C>T	ENST00000202556.9	-	10	1521	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	PPP1R13B_ENST00000423488.2_5'UTR|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	413					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CCTCCACGCTCGGATCCTTCC	0.552													9	69					0	0	0	0	T	104209072	C	T	104209072	2	4	172	1	0	0	0	0	0	0	0	1	12433	871	31	1		1	PPP1R13B	14	104209072	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	222562	104209072	3140468	254	30502											
AHNAK2	113146	broad.mit.edu	37	chr14	105414035	105414035	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccttgacatctagctGggggcccttgaggtccattt	5	11	14	11	0	1	2	0	2	1	0	2	2	2	2	3	5	1	1	3	5	1	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:105414035G>A	ENST00000333244.5	-	7	7872	c.7753C>T	c.(7753-7755)Cag>Tag	p.Q2585*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2585						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCTAGCTGGGGGCCCTTG	0.627													67	220					0	0	0	0	A	105414035	G	A	105414035	4	1	172	1	0	0	0	0	0	1	0	0	415	1357	47	4	9638	4	AHNAK2	14	105414035	Nonsense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1204963	105414035	1935505	255	30503											
GPR132	29933	broad.mit.edu	37	chr14	105518119	105518119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcagaagaagatgtaggCggtcaccttgcaggccagca	11	7	14	9	1	1	3	1	0	0	3	1	3	1	3	2	3	3	5	2	3	3	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:105518119C>T	ENST00000329797.3	-	4	1266	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	GPR132_ENST00000392585.2_Missense_Mutation_p.A110T|GPR132_ENST00000539291.2_Missense_Mutation_p.A119T|GPR132_ENST00000546679.1_5'UTR	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	119					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AAGATGTAGGCGGTCACCTTG	0.607													14	212					0	0	0	0	T	105518119	C	T	105518119	3	4	172	1	0	0	0	0	1	0	0	0	6691	768	27	1	791	1	GPR132	14	105518119	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	104084	105518119	1831421	256	30504											
BRF1	2972	broad.mit.edu	37	chr14	105677498	105677498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagggcactgacgcagggctCcccgtcctcctcgtcaggct	5	7	12	17	3	1	1	1	1	0	0	5	1	4	1	4	3	0	4	4	3	0	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:105677498C>T	ENST00000546474.1	-	17	16916	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K	BRF1_ENST00000440513.3_Missense_Mutation_p.E560K|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000327359.3_Missense_Mutation_p.E538K|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000547530.1_Missense_Mutation_p.E179K|BRF1_ENST00000446501.2_Missense_Mutation_p.E415K|BRF1_ENST00000379937.2_Missense_Mutation_p.E626K|BRF1_ENST00000392557.4_Missense_Mutation_p.E449K	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	653					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ACGCAGGGCTCCCCGTCCTCC	0.667													28	99					0	0	0	0	T	105677498	C	T	105677498	3	4	172	1	0	0	0	0	1	0	0	0	1518	864	30	2	84	2	BRF1	14	105677498	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	159379	105677498	1672042	257	30505											
UBE3A	7337	broad.mit.edu	37	chr15	25620732	25620732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttggagggatgaggatCacagagttttgcattaatct	10	15	11	5	0	3	2	1	1	2	1	3	5	3	5	0	3	1	2	0	3	1	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:25620732C>T	ENST00000232165.3	-	5	897	c.241G>A	c.(241-243)Gat>Aat	p.D81N	UBE3A_ENST00000438097.1_Missense_Mutation_p.D61N|UBE3A_ENST00000566215.1_Missense_Mutation_p.D61N|UBE3A_ENST00000397954.2_Missense_Mutation_p.D84N|UBE3A_ENST00000428984.2_Missense_Mutation_p.D61N|SNHG14_ENST00000554726.1_RNA	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	84					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GGATGAGGATCACAGAGTTTT	0.423													12	42					0	0	0	0	T	25620732	C	T	25620732	3	4	172	1	0	0	0	0	1	0	0	0	16975	826	29	2	2413	2	UBE3A	15	25620732	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08		25620732	76910660	258	30506											
FSIP1	161835	broad.mit.edu	37	chr15	40068622	40068622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaggatcctggttctgttGagagcacctccaaagaagca	12	9	11	9	0	1	3	0	2	1	2	3	5	3	4	3	2	2	4	3	2	3	2	rs148913803		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:40068622G>A	ENST00000350221.3	-	2	313	c.104C>T	c.(103-105)tCa>tTa	p.S35L	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	35										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TGGTTCTGTTGAGAGCACCTC	0.388													16	68					0	0	0	0	A	40068622	G	A	40068622	3	1	172	1	0	0	0	0	1	0	0	0	6122	1294	45	2	1685	2	FSIP1	15	40068622	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	14447890	40068622	62462770	259	30507											
PPP1R14D	54866	broad.mit.edu	37	chr15	41107889	41107889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgctaaagatggtctctCaggcttatttctgaggccgg	7	12	13	9	1	3	2	1	1	2	1	4	2	3	2	1	5	1	3	1	5	3	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:41107889C>T	ENST00000427255.2	-	5	626	c.559G>A	c.(559-561)Gag>Aag	p.E187K	PPP1R14D_ENST00000299174.5_3'UTR	NM_001130143.1	NP_001123615.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	0					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|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;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GATGGTCTCTCAGGCTTATTT	0.517													7	35					0	0	0	0	T	41107889	C	T	41107889	3	4	172	1	0	0	0	0	1	0	0	0	12438	835	29	2	47	2	PPP1R14D	15	41107889	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1039267	41107889	61423503	260	30508											
MAPKBP1	23005	broad.mit.edu	37	chr15	42109197	42109197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctacagcagacgctggacGaacactcatcctccatcact	11	7	7	16	2	2	1	2	0	0	1	4	3	4	2	3	1	3	2	3	1	2	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:42109197G>A	ENST00000457542.2	+	14	1961	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E398K|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.E565K|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E442K|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E559K	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	565										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GACGCTGGACGAACACTCATC	0.602													8	110					0	0	0	0	A	42109197	G	A	42109197	3	1	172	1	0	0	0	0	1	0	0	0	9361	1059	37	1	1747	1	MAPKBP1	15	42109197	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1001308	42109197	60422195	261	30509											
SPTBN5	51332	broad.mit.edu	37	chr15	42144929	42144929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaactccacatctgacactGagtgctggggagaagcatgt	11	8	12	10	0	1	3	0	2	1	1	2	4	2	3	1	2	3	3	1	2	2	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:42144929G>A	ENST00000320955.6	-	61	10579	c.10352C>T	c.(10351-10353)tCa>tTa	p.S3451L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3451					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ATCTGACACTGAGTGCTGGGG	0.587													7	218					0	0	0	0	A	42144929	G	A	42144929	3	1	172	1	0	0	0	0	1	0	0	0	15212	1294	45	2	704	2	SPTBN5	15	42144929	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	35732	42144929	60386463	262	30510											
CAPN3	825	broad.mit.edu	37	chr15	42678467	42678467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcatcgaaaactacgcagGgatcttccacttccaggtga	11	11	8	11	2	2	1	1	1	1	0	5	3	4	2	2	2	2	1	2	2	3	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:42678467G>A	ENST00000397163.3	+	3	701	c.482G>A	c.(481-483)gGg>gAg	p.G161E	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.G74E|CAPN3_ENST00000357568.3_Missense_Mutation_p.G161E|CAPN3_ENST00000349748.3_Missense_Mutation_p.G161E|CAPN3_ENST00000318023.7_Missense_Mutation_p.G161E	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	161	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AACTACGCAGGGATCTTCCAC	0.547											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	95					0	0	0	0	A	42678467	G	A	42678467	3	1	172	1	0	0	0	0	1	0	0	0	2653	1232	43	4	544	4	CAPN3	15	42678467	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	533538	42678467	59852925	263	30511											
STRC	161497	broad.mit.edu	37	chr15	43910158	43910158	+	Frame_Shift_Del	DEL	G	G	-																															atgggggccgagttggggtaGgggggcccccaggaactaag																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:43910158delG	ENST00000450892.2	-	2	538	c.461delC	c.(460-462)ctfs	p.P154fs	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	154					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGTTGGGGTAGGGGGGCCCCC	0.642													13	128	---	---	---	---					-	43910158	G	-	43910158	7	5	172	1	0	1	0	1	0	0	0	0	15418	1000	35	0	4978	0	STRC	15	43910158	Frame_Shift_Del	DEL	G	TCGA-CR-5248-01A-01D-2012-08	1231691	43910158	58621234	264	30512											
AP4E1	23431	broad.mit.edu	37	chr15	51226870	51226870	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaatccttacgaagagctGagttaaatcacaatgtcaca	16	10	7	8	1	2	3	2	2	0	1	3	4	3	3	1	0	2	2	1	0	6	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:51226870G>C	ENST00000261842.5	+	8	1025	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	AP4E1_ENST00000560508.1_Missense_Mutation_p.E232Q	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	307					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACGAAGAGCTGAGTTAAATCA	0.274													6	22					0	0	0	0	C	51226870	G	C	51226870	3	2	172	1	0	0	0	0	1	0	0	0	753	1291	45	2	949	2	AP4E1	15	51226870	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	7316712	51226870	51304522	265	30513											
MYO5A	4644	broad.mit.edu	37	chr15	52620057	52620057	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggaactgaccttcaataCttttttgatgctgttaattg	11	16	7	7	0	1	2	1	2	0	0	1	3	1	3	1	1	3	2	1	1	4	7			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:52620057C>G	ENST00000399231.3	-	35	4870	c.4627G>C	c.(4627-4629)Gta>Cta	p.V1543L	MYO5A_ENST00000356338.6_Missense_Mutation_p.V1516L|MYO5A_ENST00000399233.2_Missense_Mutation_p.V1540L|MYO5A_ENST00000553916.1_Missense_Mutation_p.V1541L|MYO5A_ENST00000358212.6_Missense_Mutation_p.V1568L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1543	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACCTTCAATACTTTTTTGATG	0.368													26	102					0	0	0	0	G	52620057	C	G	52620057	3	3	172	1	0	0	0	0	1	0	0	0	10148	565	20	4	968	4	MYO5A	15	52620057	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1393187	52620057	49911335	266	30514											
WDR72	256764	broad.mit.edu	37	chr15	53809925	53809925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgcaggggcagacctttgCtatccatgaatgatgccttg	8	12	11	10	0	0	3	0	2	0	1	1	3	1	3	3	2	3	3	3	2	2	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:53809925C>A	ENST00000396328.1	-	20	3519	c.3280G>T	c.(3280-3282)Gca>Tca	p.A1094S	WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000559418.1_Missense_Mutation_p.A1104S|WDR72_ENST00000360509.5_Missense_Mutation_p.A1094S|WDR72_ENST00000557913.1_Missense_Mutation_p.A1091S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1094										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAGACCTTTGCTATCCATGAA	0.383													6	81					2.0095e-06	3.48157e-06	1	0	A	53809925	C	A	53809925	3	1	172	1	0	0	0	0	1	0	0	0	17418	797	28	4	32	4	WDR72	15	53809925	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1189868	53809925	48721467	267	30515											
GCNT3	9245	broad.mit.edu	37	chr15	59911580	59911580	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggtgctccttatgctccCtgctctggaatccaccagcg	7	10	10	14	1	1	0	0	0	1	0	4	1	4	1	4	2	4	3	4	2	3	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:59911580C>G	ENST00000396065.1	+	3	1591	c.1143C>G	c.(1141-1143)ccC>ccG	p.P381P	GCNT3_ENST00000560585.1_Silent_p.P381P	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	381					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTATGCTCCCTGCTCTGGAA	0.522													37	122					0	0	0	0	G	59911580	C	G	59911580	2	3	172	1	0	0	0	0	0	0	0	1	6351	668	24	4		4	GCNT3	15	59911580	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	6101655	59911580	42619812	268	30516											
MTFMT	123263	broad.mit.edu	37	chr15	65316055	65316055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttactccagtaactgtgtctCcgtgaagcactgtatggatt	9	14	9	9	1	1	1	0	1	1	0	3	2	2	2	2	1	3	3	2	1	4	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:65316055C>T	ENST00000220058.4	-	3	510	c.497G>A	c.(496-498)gGa>gAa	p.G166E	MTFMT_ENST00000561025.1_Intron	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	166						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	AACTGTGTCTCCGTGAAGCAC	0.398													6	27					0	0	0	0	T	65316055	C	T	65316055	3	4	172	1	0	0	0	0	1	0	0	0	9994	855	30	2	700	2	MTFMT	15	65316055	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	5404475	65316055	37215337	269	30517											
CYP11A1	1583	broad.mit.edu	37	chr15	74659879	74659879	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggcactcagaaaggtctgGcagcctttgaccaggactga	10	7	14	10	0	2	3	1	2	1	1	2	4	2	4	2	5	1	2	2	5	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:74659879G>T	ENST00000268053.6	-	1	202	c.48C>A	c.(46-48)tgC>tgA	p.C16*	CYP11A1_ENST00000541301.1_Nonsense_Mutation_p.C16*|CYP11A1_ENST00000467407.1_5'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	16				C -> Y (in Ref. 1; AAA52162).	C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GAAAGGTCTGGCAGCCTTTGA	0.652													6	39					3.59834e-05	6.14853e-05	1	0	T	74659879	G	T	74659879	4	4	172	1	0	0	0	0	0	1	0	0	4176	1195	42	4	1553	4	CYP11A1	15	74659879	Nonsense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	9343824	74659879	27871513	270	30518											
FANCI	55215	broad.mit.edu	37	chr15	89802003	89802003	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactcctgagagccatcttCaaaggtaataataattaatg	15	11	7	8	0	2	1	1	1	1	1	3	2	3	1	2	1	1	2	2	1	5	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:89802003C>T	ENST00000310775.7	+	3	239	c.153C>T	c.(151-153)ttC>ttT	p.F51F	FANCI_ENST00000300027.8_Silent_p.F51F|FANCI_ENST00000567996.1_Silent_p.F51F|FANCI_ENST00000451393.2_5'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	51					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAGCCATCTTCAAAGGTAATA	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	93					0	0	0	0	T	89802003	C	T	89802003	2	4	172	1	0	0	0	0	0	0	0	1	5714	825	29	2		2	FANCI	15	89802003	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	15142124	89802003	12729389	271	30519											
LRRC28	123355	broad.mit.edu	37	chr15	99903443	99903443	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctctttcccttgagagAgacgccaatggcagggctgc	9	8	12	12	1	1	2	0	1	1	2	2	4	2	2	2	2	2	3	2	2	2	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:99903443A>T	ENST00000301981.3	+	9	1244	c.1004A>T	c.(1003-1005)gAg>gTg	p.E335V	LRRC28_ENST00000447360.2_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.E266V|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000558879.1_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	335										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CCCTTGAGAGAGACGCCAATG	0.582													7	71					0	0	0	0	T	99903443	A	T	99903443	3	4	172	1	0	0	0	0	1	0	0	0	9046	304	11	5	1034	5	LRRC28	15	99903443	Missense_Mutation	SNP	A	TCGA-CR-5248-01A-01D-2012-08	10101440	99903443	2627949	272	30520											
ZNF174	7727	broad.mit.edu	37	chr16	3452340	3452340	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaggcatcgatgtccaatGagcagcaaggagattgtgac	12	8	13	8	1	1	3	1	2	0	1	3	5	2	3	1	2	2	3	1	2	2	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:3452340G>C	ENST00000268655.4	+	1	921	c.336G>C	c.(334-336)atG>atC	p.M112I	ZNF174_ENST00000344823.5_Missense_Mutation_p.M112I|ZNF174_ENST00000572544.1_Missense_Mutation_p.M112I|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000575752.1_Missense_Mutation_p.M112I|ZNF174_ENST00000571936.1_Missense_Mutation_p.M112I	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	112	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GATGTCCAATGAGCAGCAAGG	0.542													19	57					0	0	0	0	C	3452340	G	C	3452340	3	2	172	1	0	0	0	0	1	0	0	0	17839	1290	45	2	338	2	ZNF174	16	3452340	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08		3452340	86902413	273	30521											
PRM2	5620	broad.mit.edu	37	chr16	11370049	11370049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatccggtgcagcctccttCgagagcagtgtctgcgccta	6	9	13	13	3	1	1	0	0	1	1	4	3	3	2	4	2	4	2	4	2	1	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:11370049C>T	ENST00000435245.2	-	1	288	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	PRM2_ENST00000241808.4_Missense_Mutation_p.R60Q|RMI2_ENST00000572173.1_Intron			P04554	PRM2_HUMAN	protamine 2	60					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						CAGCCTCCTTCGAGAGCAGTG	0.642													25	76					0	0	0	0	T	11370049	C	T	11370049	3	4	172	1	0	0	0	0	1	0	0	0	12613	884	31	1	137	1	PRM2	16	11370049	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	7917709	11370049	78984704	274	30522											
ABCC6	368	broad.mit.edu	37	chr16	16255391	16255391	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgcaaacaccaggccattCcccaggagctccacattggc	10	6	9	16	0	0	0	0	0	0	0	2	1	2	1	5	3	3	3	5	3	1	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:16255391C>T	ENST00000205557.7	-	25	3566	c.3537G>A	c.(3535-3537)ggG>ggA	p.G1179G		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1179	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCAGGCCATTCCCCAGGAGCT	0.602													9	54					0	0	0	0	T	16255391	C	T	16255391	2	4	172	1	0	0	0	0	0	0	0	1	57	842	30	2		2	ABCC6	16	16255391	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	4885342	16255391	74099362	275	30523											
ERN2	10595	broad.mit.edu	37	chr16	23706160	23706160	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagcaggcagcttcttgcaGaggccgaagtctgagagcac	10	6	13	12	1	2	2	0	1	2	2	2	4	2	2	2	2	4	5	2	2	1	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:23706160G>A	ENST00000256797.4	-	17	2301	c.2133C>T	c.(2131-2133)ctC>ctT	p.L711L	ERN2_ENST00000457008.2_Silent_p.L611L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	663	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCTTCTTGCAGAGGCCGAAGT	0.647													10	31					0	0	0	0	A	23706160	G	A	23706160	2	1	172	1	0	0	0	0	0	0	0	1	5276	929	33	2		2	ERN2	16	23706160	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	7450769	23706160	66648593	276	30524											
GTF3C1	2975	broad.mit.edu	37	chr16	27480793	27480793	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcaggtttcacctccatgctCcggcgcttgccccctacacc	5	9	8	19	2	1	0	1	0	0	0	3	0	3	0	6	2	3	4	6	2	1	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:27480793C>G	ENST00000356183.4	-	32	4908	c.4893G>C	c.(4891-4893)cgG>cgC	p.R1631R	GTF3C1_ENST00000561623.1_Silent_p.R1631R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1631						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCTCCATGCTCCGGCGCTTGC	0.602													15	53					0	0	0	0	G	27480793	C	G	27480793	2	3	172	1	0	0	0	0	0	0	0	1	6922	842	30	2		2	GTF3C1	16	27480793	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3774633	27480793	62873960	277	30525											
ZNF629	23361	broad.mit.edu	37	chr16	30794731	30794731	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgtggatcttctggtgcttGaggaggttgtggttctggcc	3	14	17	7	1	3	1	0	1	3	0	3	3	3	3	1	6	1	3	1	6	0	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:30794731G>A	ENST00000262525.4	-	3	1125	c.918C>T	c.(916-918)ctC>ctT	p.L306L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TCTGGTGCTTGAGGAGGTTGT	0.642													18	95					0	0	0	0	A	30794731	G	A	30794731	2	1	172	1	0	0	0	0	0	0	0	1	18148	1277	45	2		2	ZNF629	16	30794731	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	3313938	30794731	59560022	278	30526											
CNOT1	23019	broad.mit.edu	37	chr16	58577583	58577583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggttccctgcatgtaatCatagccattccagctgtcaa	12	11	7	11	0	2	0	2	0	0	0	4	0	4	0	3	1	3	4	3	1	4	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:58577583C>A	ENST00000317147.5	-	31	4694	c.4362G>T	c.(4360-4362)atG>atT	p.M1454I	CNOT1_ENST00000245138.4_Missense_Mutation_p.M305I|CNOT1_ENST00000569240.1_Missense_Mutation_p.M1449I|CNOT1_ENST00000441024.2_Missense_Mutation_p.M1454I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1454					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGCATGTAATCATAGCCATTC	0.438													11	27					6.40141e-05	0.000109132	1	0	A	58577583	C	A	58577583	3	1	172	1	0	0	0	0	1	0	0	0	3647	826	29	2	3066	2	CNOT1	16	58577583	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	27782852	58577583	31777170	279	30527											
CDH3	1001	broad.mit.edu	37	chr16	68712542	68712542	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataagccactggaccgggagGagattgccaagtatgaggca	13	6	14	8	1	0	2	0	1	0	1	0	5	0	4	3	4	2	2	3	4	3	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:68712542G>T	ENST00000264012.4	+	5	1073	c.529G>T	c.(529-531)Gag>Tag	p.E177*	CDH3_ENST00000581171.1_Nonsense_Mutation_p.E122*|CDH3_ENST00000429102.2_Nonsense_Mutation_p.E177*	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	177	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GGACCGGGAGGAGATTGCCAA	0.582													17	83					2.48551e-13	4.45121e-13	1	0	T	68712542	G	T	68712542	4	4	172	1	0	0	0	0	0	1	0	0	3140	1175	41	2	547	2	CDH3	16	68712542	Nonsense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	10134959	68712542	21642211	280	30528											
ZC3H18	124245	broad.mit.edu	37	chr16	88665043	88665043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatagggtgggccggtagttGatgaaattttgcctccaccc	9	11	12	9	1	0	2	0	2	0	0	1	2	1	2	4	3	1	2	4	3	4	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:88665043G>A	ENST00000301011.5	+	5	1053	c.853G>A	c.(853-855)Gat>Aat	p.D285N	ZC3H18_ENST00000452588.2_Missense_Mutation_p.D309N	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	285	Pro-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCGGTAGTTGATGAAATTTT	0.468													5	13					0	0	0	0	A	88665043	G	A	88665043	3	1	172	1	0	0	0	0	1	0	0	0	17663	1290	45	2	867	2	ZC3H18	16	88665043	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	19952501	88665043	1689710	281	30529											
ANKRD11	29123	broad.mit.edu	37	chr16	89352507	89352508	+	Frame_Shift_Ins	INS	-	-	G																															aacaggaggttcaccatcgtINSgggggagttggccactttca																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:89352507_89352508insG	ENST00000301030.4	-	8	1291_1292	c.831_832insC	c.(829-834)cccgatfs	p.D278fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.D278fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	278						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)		TTCACCATCGTGGGGGAGTTGG	0.574													47	152	---	---	---	---					G	89352508	-	G	89352507	7	5	172	1	0	1	1	0	0	0	0	0	639	1696	59	0	7183	0	ANKRD11	16	89352507	Frame_Shift_Ins	INS	-	TCGA-CR-5248-01A-01D-2012-08	687464	89352507	1002246	282	30530											
VPS53	55275	broad.mit.edu	37	chr17	530477	530477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accactcacgtggaaacatgCggccgtatttctcctcatag	10	10	8	13	3	3	0	2	0	1	0	4	1	3	1	3	2	2	1	3	2	3	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:530477C>T	ENST00000437048.2	-	10	1057	c.911G>A	c.(910-912)cGc>cAc	p.R304H	VPS53_ENST00000571805.1_Missense_Mutation_p.R304H|VPS53_ENST00000291074.5_Missense_Mutation_p.R275H|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000446250.2_Missense_Mutation_p.R106H|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000576149.1_5'UTR	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	304					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TGGAAACATGCGGCCGTATTT	0.498													20	53					0	0	0	0	T	530477	C	T	530477	3	4	172	1	0	0	0	0	1	0	0	0	17311	768	27	1	1654	1	VPS53	17	530477	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08		530477	80664733	283	30531											
ABR	29	broad.mit.edu	37	chr17	1028559	1028559	+	Frame_Shift_Del	DEL	C	C	-																															tggagtcggggagacgccatCccccccgccctggctgcggg																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:1028559delC	ENST00000544583.2	-	2	666	c.67delG	c.(67-69)atfs	p.D23fs	ABR_ENST00000302538.5_Frame_Shift_Del_p.D69fs|ABR_ENST00000574437.1_Frame_Shift_Del_p.D23fs	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	69					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GAGACGCCATCCCCCCCGCCC	0.677													17	73	---	---	---	---					-	1028559	C	-	1028559	7	5	172	1	0	1	0	1	0	0	0	0	99	855	30	0	2601	0	ABR	17	1028559	Frame_Shift_Del	DEL	C	TCGA-CR-5248-01A-01D-2012-08	498082	1028559	80166651	284	30532											
SLC25A11	8402	broad.mit.edu	37	chr17	4843164	4843164	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaggggaggtacggggcttCccgtctatcccgccggcccc	4	8	14	15	4	1	0	0	0	1	0	3	1	3	1	5	6	1	2	5	6	3	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:4843164C>A	ENST00000225665.7	-	1	382	c.42G>T	c.(40-42)ggG>ggT	p.G14G	SLC25A11_ENST00000544061.2_Silent_p.G14G	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	14					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TACGGGGCTTCCCGTCTATCC	0.706													4	25					1.23904e-05	2.13184e-05	1	0	A	4843164	C	A	4843164	2	1	172	1	0	0	0	0	0	0	0	1	14561	842	30	2		2	SLC25A11	17	4843164	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3814605	4843164	76352046	285	30533											
RPAIN	84268	broad.mit.edu	37	chr17	5323530	5323530	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtctcccgcgaagaggaGatggcggagtcgttgaggtc	7	10	16	8	4	1	3	0	1	1	2	4	6	1	4	1	4	0	1	1	4	1	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:5323530G>A	ENST00000381209.3	+	0	570				RPAIN_ENST00000574003.1_De_novo_Start_InFrame|RPAIN_ENST00000405578.4_De_novo_Start_InFrame|RPAIN_ENST00000327154.6_De_novo_Start_InFrame|RPAIN_ENST00000536255.2_De_novo_Start_InFrame|RPAIN_ENST00000381208.5_De_novo_Start_InFrame	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein						DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						GCGAAGAGGAGATGGCGGAGT	0.632													4	26					0	0	0	0	A	5323530	G	A	5323530	1	1	172	1	0	0	0	0	0	0	0	0	13625	957	33	2		2	RPAIN	17	5323530	Translation_Start_Site	SNP	G	TCGA-CR-5248-01A-01D-2012-08	480366	5323530	75871680	286	30534											
C17orf74	201243	broad.mit.edu	37	chr17	7330298	7330298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccctgcctcggtgtccCggaacgcccggcctgaggcc	3	5	13	20	4	0	1	0	1	0	0	2	2	1	2	8	4	2	0	8	4	1	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:7330298C>T	ENST00000333870.3	+	3	1062	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	330						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTCGGTGTCCCGGAACGCCCG	0.692													16	37					0	0	0	0	T	7330298	C	T	7330298	3	4	172	1	0	0	0	0	1	0	0	0	1895	643	23	1	998	1	C17orf74	17	7330298	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	2006768	7330298	73864912	287	30535											
DNAH9	1770	broad.mit.edu	37	chr17	11584154	11584154	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccagaggtgcacagccttcGatgcagaacagcagcaattc	12	6	11	12	1	0	2	0	0	0	2	2	3	0	2	2	1	6	4	2	1	2	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:11584154G>C	ENST00000262442.3	+	19	3759	c.3691G>C	c.(3691-3693)Gat>Cat	p.D1231H	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1231H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1231	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CACAGCCTTCGATGCAGAACA	0.522													9	24					0	0	0	0	C	11584154	G	C	11584154	3	2	172	1	0	0	0	0	1	0	0	0	4644	1058	37	3	3765	3	DNAH9	17	11584154	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	4253856	11584154	69611056	288	30536											
RASD1	51655	broad.mit.edu	37	chr17	17399349	17399349	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaggcgtgtaggcgtcctcGaagcggccggtgaggaagcg	7	6	19	9	6	0	1	0	1	0	0	2	3	1	2	2	5	2	2	2	5	4	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:17399349G>A	ENST00000225688.3	-	1	358	c.147C>T	c.(145-147)ttC>ttT	p.F49F	RASD1_ENST00000579152.1_Silent_p.F49F	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	49					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						AGGCGTCCTCGAAGCGGCCGG	0.622													16	52					0	0	0	0	A	17399349	G	A	17399349	2	1	172	1	0	0	0	0	0	0	0	1	13148	1049	37	1		1	RASD1	17	17399349	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	5815195	17399349	63795861	289	30537											
FAM83G	644815	broad.mit.edu	37	chr17	18881970	18881970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttggccacagtgcccgCgggcaccagggggaccacag	7	5	14	15	2	1	0	0	0	1	0	1	1	1	1	4	4	1	1	4	4	0	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:18881970C>T	ENST00000388995.6	-	5	1232	c.1009G>A	c.(1009-1011)Gcg>Acg	p.A337T	SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A337T|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A337T|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	337										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ACAGTGCCCGCGGGCACCAGG	0.597													40	148					0	0	0	0	T	18881970	C	T	18881970	3	4	172	1	0	0	0	0	1	0	0	0	5685	768	27	1	1470	1	FAM83G	17	18881970	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1482621	18881970	62313240	290	30538											
SARM1	23098	broad.mit.edu	37	chr17	26711532	26711532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccagctggaaggaggccGaggttcagacgtggctgcag	8	6	17	10	2	1	1	1	0	0	1	1	4	1	3	2	5	3	4	2	5	1	1	rs147156050	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:26711532G>A	ENST00000457710.3	+	3	1615	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	416					innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GAAGGAGGCCGAGGTTCAGAC	0.677													7	30					0	0	0	0	A	26711532	G	A	26711532	3	1	172	1	0	0	0	0	1	0	0	0	13928	1059	37	1	1254	1	SARM1	17	26711532	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	7829562	26711532	54483678	291	30539											
SARM1	23098	broad.mit.edu	37	chr17	26711577	26711577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggtttctccaagtactgcGagagcttccgggtagagtcg	7	11	13	10	4	1	2	0	0	1	2	5	3	2	2	2	2	3	4	2	2	3	4	rs137938585	by1000genomes	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:26711577G>A	ENST00000457710.3	+	3	1660	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	431					innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CAAGTACTGCGAGAGCTTCCG	0.682													6	18					0	0	0	0	A	26711577	G	A	26711577	3	1	172	1	0	0	0	0	1	0	0	0	13928	1059	37	1	1299	1	SARM1	17	26711577	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	45	26711577	54483633	292	30540											
LRRC37B	114659	broad.mit.edu	37	chr17	30349151	30349151	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtgacagttcaacctcCaggtgaggatcaagctcatt	12	10	10	9	0	3	3	3	3	0	0	4	4	4	4	2	2	2	2	2	2	3	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:30349151C>G	ENST00000327564.7	+	1	1128	c.1067C>G	c.(1066-1068)cCa>cGa	p.P356R	LRRC37B_ENST00000394713.3_Missense_Mutation_p.P329R|LRRC37B_ENST00000584368.1_Missense_Mutation_p.P341R|LRRC37B_ENST00000341671.7_Missense_Mutation_p.P329R|LRRC37B_ENST00000543378.2_Missense_Mutation_p.P247R			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	329						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GTTCAACCTCCAGGTGAGGAT	0.473													34	132					0	0	0	0	G	30349151	C	G	30349151	3	3	172	1	0	0	0	0	1	0	0	0	9058	594	21	4	988	4	LRRC37B	17	30349151	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3637574	30349151	50846059	293	30541											
SLFN12	55106	broad.mit.edu	37	chr17	33738501	33738501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggctttaaaaagggctttCagcaagtatttccttcttgt	11	15	8	7	0	2	0	1	0	1	0	3	0	3	0	1	2	1	4	1	2	6	7			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:33738501C>T	ENST00000394562.1	-	6	2116	c.1593G>A	c.(1591-1593)ctG>ctA	p.L531L	SLFN12_ENST00000304905.5_Silent_p.L531L|SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Silent_p.L531L			Q8IYM2	SLN12_HUMAN	schlafen family member 12	531							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAGGGCTTTCAGCAAGTATT	0.388													15	60					0	0	0	0	T	33738501	C	T	33738501	2	4	172	1	0	0	0	0	0	0	0	1	14822	813	29	2		2	SLFN12	17	33738501	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3389350	33738501	47456709	294	30542											
GPR179	440435	broad.mit.edu	37	chr17	36486166	36486166	+	Frame_Shift_Del	DEL	G	G	-																															tctgtaggtgctccgagaacGggtcagagctttaatcgcca																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:36486166delG	ENST00000342292.4	-	11	3306	c.3286delC	c.(3286-3288)gtfs	p.R1096fs		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1096						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCCGAGAACGGGTCAGAGCT	0.612													15	57	---	---	---	---					-	36486166	G	-	36486166	7	5	172	1	0	1	0	1	0	0	0	0	6723	1116	39	0	3821	0	GPR179	17	36486166	Frame_Shift_Del	DEL	G	TCGA-CR-5248-01A-01D-2012-08	2747665	36486166	44709044	295	30543											
GSDMB	55876	broad.mit.edu	37	chr17	38066128	38066128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcaccagatacaggttttCtctcgtattaattgatcgga	10	15	8	8	2	2	2	1	1	1	1	5	3	2	3	1	2	1	2	1	2	3	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:38066128C>G	ENST00000394175.2	-	3	680	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q	GSDMB_ENST00000360317.3_Missense_Mutation_p.E153Q|GSDMB_ENST00000394179.1_Missense_Mutation_p.E153Q|GSDMB_ENST00000520542.1_Missense_Mutation_p.E153Q|GSDMB_ENST00000418519.1_Missense_Mutation_p.E153Q|GSDMB_ENST00000309481.7_Missense_Mutation_p.E153Q	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	153						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TACAGGTTTTCTCTCGTATTA	0.473													20	60					0	0	0	0	G	38066128	C	G	38066128	3	3	172	1	0	0	0	0	1	0	0	0	6867	922	32	2	825	2	GSDMB	17	38066128	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1579962	38066128	43129082	296	30544											
DGKE	8526	broad.mit.edu	37	chr17	54912414	54912414	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacattctgcagggcgccttCtgcgactgctgcgggctccg	4	9	13	15	4	2	0	0	0	2	0	3	1	3	0	2	2	4	3	2	2	0	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:54912414C>G	ENST00000284061.3	+	2	438	c.258C>G	c.(256-258)ttC>ttG	p.F86L	DGKE_ENST00000576869.1_3'UTR|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000572810.1_Missense_Mutation_p.F86L	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	86					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AGGGCGCCTTCTGCGACTGCT	0.627													11	43					0	0	0	0	G	54912414	C	G	54912414	3	3	172	1	0	0	0	0	1	0	0	0	4505	912	32	2	260	2	DGKE	17	54912414	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	16846286	54912414	26282796	297	30545											
SCPEP1	59342	broad.mit.edu	37	chr17	55075841	55075841	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagctcaaaattattcctGaggatcaatcctggggaggt	13	10	11	7	0	2	2	2	1	0	1	4	4	4	4	2	4	1	1	2	4	5	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:55075841G>T	ENST00000262288.3	+	10	1031	c.976G>T	c.(976-978)Gag>Tag	p.E326*		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	326					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AATTATTCCTGAGGATCAATC	0.438													23	59					5.35356e-11	9.49619e-11	1	0	T	55075841	G	T	55075841	4	4	172	1	0	0	0	0	0	1	0	0	14022	1291	45	2	1014	2	SCPEP1	17	55075841	Nonsense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	163427	55075841	26119369	298	30546											
EPX	8288	broad.mit.edu	37	chr17	56276417	56276417	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggtgacacccgatcaacGgaaacccccaaactggcagc	14	3	9	15	2	1	1	1	1	0	0	1	3	1	2	3	3	4	1	3	3	4	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:56276417G>A	ENST00000225371.5	+	8	1247	c.1137G>A	c.(1135-1137)acG>acA	p.T379T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	379					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCGATCAACGGAAACCCCCA	0.567													8	20					0	0	0	0	A	56276417	G	A	56276417	2	1	172	1	0	0	0	0	0	0	0	1	5238	1103	39	1		1	EPX	17	56276417	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1200576	56276417	24918793	299	30547											
BZRAP1	9256	broad.mit.edu	37	chr17	56403660	56403660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcctttcctcaccaccctCaggttcgtttcctgcagctt	4	14	5	18	1	2	0	2	0	0	0	6	0	5	0	6	1	2	4	6	1	0	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:56403660C>T	ENST00000355701.3	-	3	1434	c.564G>A	c.(562-564)ctG>ctA	p.L188L	BZRAP1_ENST00000343736.4_Silent_p.L188L|BZRAP1_ENST00000268893.6_Silent_p.L188L|BZRAP1-AS1_ENST00000579527.1_RNA	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	188						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACCACCCTCAGGTTCGTTT	0.637													23	48					0	0	0	0	T	56403660	C	T	56403660	2	4	172	1	0	0	0	0	0	0	0	1	1586	813	29	2		2	BZRAP1	17	56403660	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	127243	56403660	24791550	300	30548											
BRIP1	83990	broad.mit.edu	37	chr17	59885908	59885908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggatggacacaagtatgatCcctgctggaaagaatagtca	15	8	11	7	0	1	2	1	1	0	1	2	5	2	5	1	3	1	2	1	3	5	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:59885908C>T	ENST00000259008.2	-	7	1105	c.838G>A	c.(838-840)Gat>Aat	p.D280N	BRIP1_ENST00000577598.1_Missense_Mutation_p.D280N	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	280	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CAAGTATGATCCCTGCTGGAA	0.438			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					16	64					0	0	0	0	T	59885908	C	T	59885908	3	4	172	1	0	0	0	0	1	0	0	0	1522	855	30	2	2967	2	BRIP1	17	59885908	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	3482248	59885908	21309302	301	30549											
FDXR	2232	broad.mit.edu	37	chr17	72860147	72860147	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagcccacaagggaggtcttCcatgtctcccgtgggcactg	7	8	12	14	1	2	0	0	0	2	0	4	1	3	1	3	3	1	1	3	3	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:72860147C>G	ENST00000455107.2	-	10	1409	c.993G>C	c.(991-993)tgG>tgC	p.W331C	FDXR_ENST00000582944.1_Missense_Mutation_p.E341Q|FDXR_ENST00000581530.1_Missense_Mutation_p.E355Q|FDXR_ENST00000293195.5_Missense_Mutation_p.E349Q|FDXR_ENST00000544854.1_Missense_Mutation_p.E297Q|FDXR_ENST00000442102.2_Missense_Mutation_p.E392Q|FDXR_ENST00000420580.2_Missense_Mutation_p.E309Q|FDXR_ENST00000413947.2_Missense_Mutation_p.E380Q|FDXR_ENST00000583917.1_Missense_Mutation_p.E321Q			P22570	ADRO_HUMAN	ferredoxin reductase	0					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGAGGTCTTCCATGTCTCCC	0.632													8	75					0	0	0	0	G	72860147	C	G	72860147	3	3	172	1	0	0	0	0	1	0	0	0	5852	864	30	2	442	2	FDXR	17	72860147	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	12974239	72860147	8335063	302	30550											
ZACN	353174	broad.mit.edu	37	chr17	74077661	74077661	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggcgctcaagtccatcatCgctctcttggtgcctgcaga	7	10	10	14	3	3	1	2	0	1	1	6	1	4	1	2	2	2	3	2	2	1	1	rs143332874		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:74077661C>T	ENST00000334586.5	+	7	788	c.705C>T	c.(703-705)atC>atT	p.I235I	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	235	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGTCCATCATCGCTCTCTTGG	0.642													31	98					0	0	0	0	T	74077661	C	T	74077661	2	4	172	1	0	0	0	0	0	0	0	1	17606	874	31	1		1	ZACN	17	74077661	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1217514	74077661	7117549	303	30551											
NDC80	10403	broad.mit.edu	37	chr18	2578095	2578096	+	Frame_Shift_Del	DEL	AC	AC	-																															cccctcatacgaacttcctgAcacaaagtttgaagaagagg																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:2578095_2578096delAC	ENST00000261597.4	+	5	613_614	c.431_432delAC	c.(430-432)gfs	p.D144fs	NDC80_ENST00000576274.1_3'UTR	NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	144	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GAACTTCCTGACACAAAGTTTG	0.386													23	79	---	---	---	---					-	2578096	AC	-	2578095	7	5	172	1	0	1	0	1	0	0	0	0	10312	275	10	0	445	0	NDC80	18	2578095	Frame_Shift_Del	DEL	AC	TCGA-CR-5248-01A-01D-2012-08		2578095	75499153	304	30552											
PTPN2	5771	broad.mit.edu	37	chr18	12814324	12814325	+	Frame_Shift_Ins	INS	-	-	T																															ctcatgttcagtaacacttgINSttttatgttaatatcatctc																										TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:12814324_12814325insT	ENST00000309660.5	-	7	828_829	c.735_736insA	c.(733-738)aaaagtfs	p.S246fs	PTPN2_ENST00000591115.1_Frame_Shift_Ins_p.S269fs|PTPN2_ENST00000591497.1_Frame_Shift_Ins_p.S217fs|PTPN2_ENST00000353319.4_Frame_Shift_Ins_p.S246fs|PTPN2_ENST00000327283.3_Frame_Shift_Ins_p.S246fs	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	246	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AGTAACACTTGTTTTATGTTAA	0.356													8	25	---	---	---	---					T	12814325	-	T	12814324	7	5	172	1	0	1	1	0	0	0	0	0	12865	1386	48	0	549	0	PTPN2	18	12814324	Frame_Shift_Ins	INS	-	TCGA-CR-5248-01A-01D-2012-08	10236229	12814324	65262924	305	30553											
ZNF521	25925	broad.mit.edu	37	chr18	22805237	22805237	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcagccgtacataggctcaGaggtgtcaacgtcttcttcg	8	10	11	12	4	4	1	2	0	2	1	5	1	4	1	1	2	3	3	1	2	3	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:22805237G>C	ENST00000361524.3	-	4	2793	c.2645C>G	c.(2644-2646)tCt>tGt	p.S882C	ZNF521_ENST00000538137.2_Missense_Mutation_p.S882C|ZNF521_ENST00000584787.1_Missense_Mutation_p.S662C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	882					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CATAGGCTCAGAGGTGTCAAC	0.532			T	PAX5	ALL								18	69					0	0	0	0	C	22805237	G	C	22805237	3	2	172	1	0	0	0	0	1	0	0	0	18060	942	33	2	1310	2	ZNF521	18	22805237	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	9990913	22805237	55272011	306	30554											
ASXL3	80816	broad.mit.edu	37	chr18	31320039	31320039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcttttctgaagggacaGataataagggaaatgagctt	13	12	11	5	0	2	3	0	2	2	1	2	5	2	5	0	2	1	1	0	2	4	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:31320039G>A	ENST00000269197.5	+	11	2671	c.2671G>A	c.(2671-2673)Gat>Aat	p.D891N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAAGGGACAGATAATAAGGG	0.348													9	53					0	0	0	0	A	31320039	G	A	31320039	3	1	172	1	0	0	0	0	1	0	0	0	1072	942	33	2	2713	2	ASXL3	18	31320039	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	8514802	31320039	46757209	307	30555											
ZNF396	252884	broad.mit.edu	37	chr18	32954025	32954025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccggcctcagccagagatGacaaagttcccagagccggc	10	6	11	14	2	1	3	1	1	0	2	3	4	3	3	5	2	2	1	5	2	1	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:32954025G>A	ENST00000306346.1	-	2	363	c.232C>T	c.(232-234)Cat>Tat	p.H78Y	ZNF396_ENST00000589332.1_Missense_Mutation_p.H78Y|ZNF396_ENST00000586687.1_Missense_Mutation_p.H78Y	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	78	SCAN box.				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H78Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AGCCAGAGATGACAAAGTTCC	0.597													13	74					0	0	0	0	A	32954025	G	A	32954025	3	1	172	1	0	0	0	0	1	0	0	0	17977	1290	45	2	785	2	ZNF396	18	32954025	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1633986	32954025	45123223	308	30556											
SETBP1	26040	broad.mit.edu	37	chr18	42531993	42531993	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggtactcttttgatttCtgctccctggacaacccgga	8	12	10	11	1	2	1	0	1	2	0	3	4	3	4	2	4	3	2	2	4	2	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:42531993C>T	ENST00000282030.5	+	4	2984	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	896						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTTTTGATTTCTGCTCCCTGG	0.557									Schinzel-Giedion syndrome				12	24					0	0	0	0	T	42531993	C	T	42531993	2	4	172	1	0	0	0	0	0	0	0	1	14216	912	32	2		2	SETBP1	18	42531993	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	9577968	42531993	35545255	309	30557											
NETO1	81832	broad.mit.edu	37	chr18	70526106	70526106	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatcccatagattccagctCtccatcagcaaaaaatttaa	17	10	3	11	0	2	1	1	0	1	1	5	1	4	1	3	0	2	2	3	0	6	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:70526106C>G	ENST00000327305.6	-	4	1081	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	NETO1_ENST00000299430.2_Missense_Mutation_p.E141Q|NETO1_ENST00000583169.1_Missense_Mutation_p.E142Q|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.E141Q	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	142	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATTCCAGCTCTCCATCAGCA	0.338													14	37					0	0	0	0	G	70526106	C	G	70526106	3	3	172	1	0	0	0	0	1	0	0	0	10409	922	32	2	1214	2	NETO1	18	70526106	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	27994113	70526106	7551142	310	30558											
BSG	682	broad.mit.edu	37	chr19	579570	579570	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgctccttgaatgacagCgccacagaggtcacagggca	11	6	11	13	1	1	3	1	2	0	1	2	3	2	3	3	2	2	2	3	2	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:579570C>T	ENST00000333511.3	+	3	556	c.486C>T	c.(484-486)agC>agT	p.S162S	BSG_ENST00000545507.2_5'UTR|BSG_ENST00000346916.4_Intron|BSG_ENST00000353555.4_Silent_p.S46S|BSG_ENST00000574970.1_3'UTR	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	162	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGAATGACAGCGCCACAGAGG	0.627													16	45					0	0	0	0	T	579570	C	T	579570	2	4	172	1	0	0	0	0	0	0	0	1	1537	767	27	1		1	BSG	19	579570	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08		579570	58549413	311	30559											
HCN2	610	broad.mit.edu	37	chr19	603773	603773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatcaagaagaagtatctgCgcacgtggttcgtggtggac	11	9	14	7	3	2	3	1	0	1	3	3	4	2	4	0	3	1	3	0	3	4	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:603773C>T	ENST00000251287.2	+	2	915	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	288					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GAAGTATCTGCGCACGTGGTT	0.547													7	66					0	0	0	0	T	603773	C	T	603773	3	4	172	1	0	0	0	0	1	0	0	0	7047	768	27	1	868	1	HCN2	19	603773	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	24203	603773	58525210	312	30560											
ATP8B3	148229	broad.mit.edu	37	chr19	1800407	1800407	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgactgagaaaccgaagccGaaggccaacaccaggcagac	15	3	11	12	2	0	3	0	2	0	2	0	6	0	3	4	2	3	1	4	2	4	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:1800407G>A	ENST00000539485.1	-	13	1427	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	ATP8B3_ENST00000525591.1_Silent_p.F351F|ATP8B3_ENST00000310127.6_Silent_p.F398F|ATP8B3_ENST00000526092.1_Silent_p.F345F			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	398					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		AACCGAAGCCGAAGGCCAACA	0.597													22	78					0	0	0	0	A	1800407	G	A	1800407	2	1	172	1	0	0	0	0	0	0	0	1	1200	1049	37	1		1	ATP8B3	19	1800407	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1196634	1800407	57328576	313	30561											
SEMA6B	10501	broad.mit.edu	37	chr19	4554425	4554425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtagttaaactccatcGcaatctcccggaagaagaag	14	7	9	11	2	1	2	0	0	1	2	4	3	2	3	3	2	1	3	3	2	7	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:4554425G>A	ENST00000586582.1	-	9	1056	c.746C>T	c.(745-747)gCg>gTg	p.A249V	SEMA6B_ENST00000301293.3_Missense_Mutation_p.A249V|SEMA6B_ENST00000586965.1_Missense_Mutation_p.A249V	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	249	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACTCCATCGCAATCTCCCG	0.567													7	48					0	0	0	0	A	4554425	G	A	4554425	3	1	172	1	0	0	0	0	1	0	0	0	14127	1087	38	1	1956	1	SEMA6B	19	4554425	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	2754018	4554425	54574558	314	30562											
GTF2F1	2962	broad.mit.edu	37	chr19	6389547	6389547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtacttcttcctccgagcCtcctcccgaagcttgcggtt	4	12	8	17	4	1	0	0	0	1	0	5	2	5	0	6	1	4	3	6	1	2	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:6389547C>A	ENST00000394456.5	-	4	698	c.234G>T	c.(232-234)gaG>gaT	p.E78D	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Missense_Mutation_p.E50D	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	78					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						TCCTCCGAGCCTCCTCCCGAA	0.607													35	166					2.42023e-17	4.37639e-17	1	0	A	6389547	C	A	6389547	3	1	172	1	0	0	0	0	1	0	0	0	6908	680	24	4	1359	4	GTF2F1	19	6389547	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1835122	6389547	52739436	315	30563											
EVI5L	115704	broad.mit.edu	37	chr19	7912766	7912766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggggccggatcgccaacGagtgggaggagtggcggcgc	6	5	21	9	5	0	0	0	0	0	0	1	4	0	3	2	7	1	0	2	7	1	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:7912766G>A	ENST00000270530.4	+	3	482	c.286G>A	c.(286-288)Gag>Aag	p.E96K	EVI5L_ENST00000538904.2_Missense_Mutation_p.E96K	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	96						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GATCGCCAACGAGTGGGAGGA	0.697													4	7					0	0	0	0	A	7912766	G	A	7912766	3	1	172	1	0	0	0	0	1	0	0	0	5328	1059	37	1	292	1	EVI5L	19	7912766	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1523219	7912766	51216217	316	30564											
MUC16	94025	broad.mit.edu	37	chr19	9067629	9067629	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctgggacagacgaataaGattccttttcagaagtggtg	12	10	13	6	1	1	3	1	0	0	3	2	5	2	4	1	3	0	1	1	3	3	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:9067629G>C	ENST00000397910.4	-	3	20020	c.19817C>G	c.(19816-19818)tCt>tGt	p.S6606C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6608	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						AGACGAATAAGATTCCTTTTC	0.433													6	192					0	0	0	0	C	9067629	G	C	9067629	3	2	172	1	0	0	0	0	1	0	0	0	10043	942	33	2	24034	2	MUC16	19	9067629	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1154863	9067629	50061354	317	30565											
OR7G3	390883	broad.mit.edu	37	chr19	9237045	9237045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatacaccaggatgttattGatgaggacatcagaacaggc	16	8	10	7	0	1	3	1	2	0	1	1	5	1	5	1	3	2	1	1	3	4	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:9237045G>A	ENST00000305444.2	-	1	581	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGATGTTATTGATGAGGACAT	0.443													23	67					0	0	0	0	A	9237045	G	A	9237045	2	1	172	1	0	0	0	0	0	0	0	1	11295	1280	45	2		2	OR7G3	19	9237045	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	169416	9237045	49891938	318	30566											
AP1M1	8907	broad.mit.edu	37	chr19	16314374	16314374	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggggatgctgtcgcccatCctggcccacgggggggtccg	4	6	18	13	3	0	0	0	0	0	0	3	2	2	1	4	6	1	1	4	6	0	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:16314374C>T	ENST00000291439.3	+	2	596	c.147C>T	c.(145-147)atC>atT	p.I49I	AP1M1_ENST00000444449.2_Silent_p.I49I|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000429941.2_Silent_p.I49I	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	49					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TGTCGCCCATCCTGGCCCACG	0.592													20	44					0	0	0	0	T	16314374	C	T	16314374	2	4	172	1	0	0	0	0	0	0	0	1	735	845	30	2		2	AP1M1	19	16314374	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	7077329	16314374	42814609	319	30567											
UPF1	5976	broad.mit.edu	37	chr19	18976383	18976383	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttcagggcgaggcaccccGaaaggcaagactggtcgtgg	9	6	15	11	3	1	1	1	0	0	1	2	3	1	1	2	5	0	2	2	5	2	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:18976383G>A	ENST00000262803.5	+	22	3305	c.3033G>A	c.(3031-3033)ccG>ccA	p.P1011P	UPF1_ENST00000599848.1_Silent_p.P1022P	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1022					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GAGGCACCCCGAAAGGCAAGA	0.632													6	106					0	0	0	0	A	18976383	G	A	18976383	2	1	172	1	0	0	0	0	0	0	0	1	17099	1045	37	1		1	UPF1	19	18976383	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	2662009	18976383	40152600	320	30568											
ZNF253	56242	broad.mit.edu	37	chr19	20002713	20002713	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaaccttactacacataaGagaattcataccggagagaa	18	7	7	9	1	1	2	1	0	0	2	1	5	1	3	2	1	4	1	2	1	7	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:20002713G>A	ENST00000589717.1	+	4	749	c.657G>A	c.(655-657)aaG>aaA	p.K219K	ZNF253_ENST00000355650.4_Silent_p.K143K	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	219					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTACACATAAGAGAATTCATA	0.383													12	47					0	0	0	0	A	20002713	G	A	20002713	2	1	172	1	0	0	0	0	0	0	0	1	17892	933	33	2		2	ZNF253	19	20002713	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1026330	20002713	39126270	321	30569											
ZNF536	9745	broad.mit.edu	37	chr19	30934667	30934667	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccccgcatccctggaggaGaaggcccacgtgcccatgag	8	4	12	17	2	0	2	0	1	0	1	1	4	1	3	6	3	1	1	6	3	1	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:30934667G>A	ENST00000355537.3	+	2	345	c.198G>A	c.(196-198)gaG>gaA	p.E66E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCTGGAGGAGAAGGCCCACG	0.687													14	48					0	0	0	0	A	30934667	G	A	30934667	2	1	172	1	0	0	0	0	0	0	0	1	18069	933	33	2		2	ZNF536	19	30934667	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	10931954	30934667	28194316	322	30570											
SBSN	374897	broad.mit.edu	37	chr19	36018688	36018688	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccaaacctcccagcctCatttccagcctgccctgcag	7	8	7	19	0	1	0	1	0	0	0	3	0	3	0	7	1	5	1	7	1	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:36018688C>A	ENST00000452271.2	-	1	524	c.496G>T	c.(496-498)Gag>Tag	p.E166*	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	165	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTCCCAGCCTCATTTCCAGCC	0.632													5	42					0.000602214	0.00101735	1	0	A	36018688	C	A	36018688	4	1	172	1	0	0	0	0	0	1	0	0	13950	835	29	2	1292	2	SBSN	19	36018688	Nonsense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	5084021	36018688	23110295	323	30571											
ZNF540	163255	broad.mit.edu	37	chr19	38102931	38102931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatgtcaagaatgtgggaaGacctttactctttacccaca	13	11	8	9	0	2	2	1	0	1	2	2	4	2	3	2	1	2	0	2	1	6	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:38102931G>C	ENST00000592533.1	+	5	1082	c.750G>C	c.(748-750)aaG>aaC	p.K250N	ZNF540_ENST00000316433.4_Missense_Mutation_p.K250N|ZNF540_ENST00000343599.5_Missense_Mutation_p.K250N|ZNF540_ENST00000589117.1_Missense_Mutation_p.K218N	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTGGGAAGACCTTTACTC	0.353													7	34					0	0	0	0	C	38102931	G	C	38102931	3	2	172	1	0	0	0	0	1	0	0	0	18070	933	33	2	764	2	ZNF540	19	38102931	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	2084243	38102931	21026052	324	30572											
SPRED3	399473	broad.mit.edu	37	chr19	38885397	38885397	+	Frame_Shift_Del	DEL	C	C	-																															caggcttcgggccgaccacgCccccccagcgccgccgctcc																								rs142553701	by1000genomes	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:38885397delC	ENST00000587013.1	+	4	748	c.670delC	c.(670-672)ccfs	p.P225fs	SPRED3_ENST00000338502.4_Frame_Shift_Del_p.P181fs|SPRED3_ENST00000586301.1_Frame_Shift_Del_p.P181fs			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	181	KBD.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCGACCACGCCCCCCCAGCG	0.731													4	9	---	---	---	---					-	38885397	C	-	38885397	7	5	172	1	0	1	0	1	0	0	0	0	15184	739	26	0	592	0	SPRED3	19	38885397	Frame_Shift_Del	DEL	C	TCGA-CR-5248-01A-01D-2012-08	782466	38885397	20243586	325	30573											
FCGBP	8857	broad.mit.edu	37	chr19	40376432	40376432	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacccatctgggcactgcaGaggggcactgagagccgagc	10	4	14	13	1	1	2	0	1	1	2	1	4	1	2	2	3	3	3	2	3	0	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:40376432G>C	ENST00000221347.6	-	25	11879	c.11872C>G	c.(11872-11874)Ctg>Gtg	p.L3958V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3958	Cys-rich.|TIL 9.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGCACTGCAGAGGGGCACTG	0.632													5	29					0	0	0	0	C	40376432	G	C	40376432	3	2	172	1	0	0	0	0	1	0	0	0	5823	933	33	2	4393	2	FCGBP	19	40376432	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1491035	40376432	18752551	326	30574											
HIPK4	147746	broad.mit.edu	37	chr19	40889957	40889957	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagggcagccccagcaggatCtcaggggcccggtagaagcg	10	3	16	12	2	1	1	1	0	1	1	2	2	1	2	3	5	3	3	3	5	3	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:40889957C>G	ENST00000291823.2	-	2	839	c.555G>C	c.(553-555)gaG>gaC	p.E185D		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	185	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCAGCAGGATCTCAGGGGCCC	0.632													16	57					0	0	0	0	G	40889957	C	G	40889957	3	3	172	1	0	0	0	0	1	0	0	0	7169	912	32	2	1307	2	HIPK4	19	40889957	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	513525	40889957	18239026	327	30575											
PRX	57716	broad.mit.edu	37	chr19	40900746	40900746	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgctgaagggactgtactCtgagcctgctgccctggggt	5	11	14	11	0	2	2	0	2	2	0	2	3	2	3	2	3	5	3	2	3	2	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:40900746C>G	ENST00000324001.7	-	7	3783	c.3513G>C	c.(3511-3513)caG>caC	p.Q1171H	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1171	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGACTGTACTCTGAGCCTGCT	0.662													4	132					0	0	0	0	G	40900746	C	G	40900746	3	3	172	1	0	0	0	0	1	0	0	0	12721	912	32	2	876	2	PRX	19	40900746	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	10789	40900746	18228237	328	30576											
CYP2S1	29785	broad.mit.edu	37	chr19	41704509	41704509	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtggtaccctgctgggagtCagctcccaggggggtcaggt	5	8	18	10	0	2	0	2	0	0	0	3	1	3	1	2	7	3	3	2	7	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:41704509C>G	ENST00000310054.4	+	4	852	c.636C>G	c.(634-636)gtC>gtG	p.V212V	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	212					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						TGCTGGGAGTCAGCTCCCAGG	0.617													4	117					0	0	0	0	G	41704509	C	G	41704509	2	3	172	1	0	0	0	0	0	0	0	1	4206	813	29	2		2	CYP2S1	19	41704509	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	803763	41704509	17424474	329	30577											
ATP1A3	478	broad.mit.edu	37	chr19	42482830	42482830	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccttcatttcctcgtccaGaggctgctccttgccctgta	4	14	7	16	1	1	1	1	0	0	1	6	1	5	1	5	1	2	3	5	1	1	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:42482830G>A	ENST00000545399.1	-	12	1750	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	ATP1A3_ENST00000302102.5_Silent_p.L520L|ATP1A3_ENST00000543770.1_Silent_p.L531L|ATP1A3_ENST00000602133.1_Silent_p.L490L	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	520					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCCTCGTCCAGAGGCTGCTCC	0.657													19	89					0	0	0	0	A	42482830	G	A	42482830	2	1	172	1	0	0	0	0	0	0	0	1	1134	933	33	2		2	ATP1A3	19	42482830	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	778321	42482830	16646153	330	30578											
ZNF284	342909	broad.mit.edu	37	chr19	44590114	44590114	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttcagtgatgtctccatCcttgatcttcatcaacaatt	9	17	4	11	0	6	2	3	2	3	0	8	2	7	2	2	0	1	0	2	0	2	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:44590114C>A	ENST00000421176.3	+	5	699	c.483C>A	c.(481-483)atC>atA	p.I161I	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ATGTCTCCATCCTTGATCTTC	0.408													8	23					0.000157383	0.000267695	1	0	A	44590114	C	A	44590114	2	1	172	1	0	0	0	0	0	0	0	1	17916	845	30	2		2	ZNF284	19	44590114	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	2107284	44590114	14538869	331	30579											
PVRL2	5819	broad.mit.edu	37	chr19	45391518	45391518	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagaggatgaggagggggAggaggaggaagagtatctgg	12	6	21	2	0	2	3	0	1	2	2	2	9	2	9	0	8	0	1	0	8	3	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:45391518A>G	ENST00000252483.5	+	9	1499	c.1499A>G	c.(1498-1500)gAg>gGg	p.E500G	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	500					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		gaggagggggaggaggaggaa	0.577													10	49					0	0	0	0	G	45391518	A	G	45391518	3	3	172	1	0	0	0	0	1	0	0	0	12922	304	11	5	1935	5	PVRL2	19	45391518	Missense_Mutation	SNP	A	TCGA-CR-5248-01A-01D-2012-08	801404	45391518	13737465	332	30580											
SLC1A5	6510	broad.mit.edu	37	chr19	47290911	47290911	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcacaccaccagcggcaaGatgatcatccgcagcagacg	12	4	10	15	3	1	3	1	1	0	2	2	3	2	3	3	1	3	4	3	1	1	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:47290911G>C	ENST00000542575.2	-	1	940	c.312C>G	c.(310-312)atC>atG	p.I104M		NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	104					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CCAGCGGCAAGATGATCATCC	0.721													4	13					0	0	0	0	C	47290911	G	C	47290911	3	2	172	1	0	0	0	0	1	0	0	0	14523	932	33	2	1352	2	SLC1A5	19	47290911	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1899393	47290911	11838072	333	30581											
CYTH2	9266	broad.mit.edu	37	chr19	48981790	48981790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggagggaaaccacatGgtgtaccggatctcggcccc	8	7	15	11	2	1	0	0	0	1	0	2	3	1	3	4	6	2	1	4	6	2	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:48981790G>T	ENST00000427476.1	+	11	1356	c.1056G>T	c.(1054-1056)atG>atT	p.M352I	CYTH2_ENST00000452733.2_Missense_Mutation_p.M351I	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	352	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GAAACCACATGGTGTACCGGA	0.597													9	60					0.000274275	0.000465456	1	0	T	48981790	G	T	48981790	3	4	172	1	0	0	0	0	1	0	0	0	4236	1348	47	4	1098	4	CYTH2	19	48981790	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1690879	48981790	10147193	334	30582											
CPT1C	126129	broad.mit.edu	37	chr19	50208329	50208329	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggaatgccgtccatgccctCctcctgtaccgccaccgcct	5	8	9	19	3	0	0	0	0	0	0	3	1	3	1	9	1	3	1	9	1	2	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:50208329C>T	ENST00000392518.4	+	9	1209	c.837C>T	c.(835-837)ctC>ctT	p.L279L	CPT1C_ENST00000354199.5_Silent_p.L279L|CPT1C_ENST00000598293.1_Silent_p.L279L|CPT1C_ENST00000405931.2_Silent_p.L268L|CPT1C_ENST00000323446.5_Silent_p.L279L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	279					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TCCATGCCCTCCTCCTGTACC	0.652													21	66					0	0	0	0	T	50208329	C	T	50208329	2	4	172	1	0	0	0	0	0	0	0	1	3863	842	30	2		2	CPT1C	19	50208329	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1226539	50208329	8920654	335	30583											
ZNF473	25888	broad.mit.edu	37	chr19	50549839	50549839	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcgggaaaacgttccgtcaGagctcatgcctttctaagca	10	10	10	11	3	3	1	2	0	1	1	4	2	4	2	2	1	5	3	2	1	3	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:50549839G>C	ENST00000595661.1	+	6	2634	c.2139G>C	c.(2137-2139)caG>caC	p.Q713H	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.Q713H|ZNF473_ENST00000445728.3_Missense_Mutation_p.Q701H|ZNF473_ENST00000391821.2_Missense_Mutation_p.Q713H			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	713					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CGTTCCGTCAGAGCTCATGCC	0.502											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	82					0	0	0	0	C	50549839	G	C	50549839	3	2	172	1	0	0	0	0	1	0	0	0	18026	933	33	2	2153	2	ZNF473	19	50549839	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	341510	50549839	8579144	336	30584											
MYBPC2	4606	broad.mit.edu	37	chr19	50951529	50951529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgcggatctgacggtgaagGcctcagaacaagctgtgttc	9	9	13	10	3	2	3	1	2	1	1	4	4	2	4	1	3	2	2	1	3	3	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:50951529G>A	ENST00000357701.5	+	13	1405	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	452	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GACGGTGAAGGCCTCAGAACA	0.547													5	53					0	0	0	0	A	50951529	G	A	50951529	3	1	172	1	0	0	0	0	1	0	0	0	10082	1203	42	4	1404	4	MYBPC2	19	50951529	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	401690	50951529	8177454	337	30585											
ZNF175	7728	broad.mit.edu	37	chr19	52090088	52090088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacaagaaaacattgaaCacagaaagcaattgtgaata	21	8	6	6	0	1	4	1	2	0	2	1	4	1	4	0	0	4	1	0	0	9	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:52090088C>A	ENST00000262259.2	+	5	862	c.504C>A	c.(502-504)aaC>aaA	p.N168K	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	168					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AAACATTGAACACAGAAAGCA	0.413													18	49					3.32936e-07	5.79526e-07	1	0	A	52090088	C	A	52090088	3	1	172	1	0	0	0	0	1	0	0	0	17840	477	17	4	518	4	ZNF175	19	52090088	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1138559	52090088	7038895	338	30586											
NLRP12	91662	broad.mit.edu	37	chr19	54308652	54308652	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaattcttattggctatgaGagctgcagagaggtcctcgc	10	11	11	9	1	1	2	0	1	1	2	3	4	2	2	1	2	2	3	1	2	3	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:54308652G>C	ENST00000324134.6	-	5	2464	c.2296C>G	c.(2296-2298)Ctc>Gtc	p.L766V	NLRP12_ENST00000391772.1_Missense_Mutation_p.L767V|NLRP12_ENST00000535162.1_Missense_Mutation_p.L766V|NLRP12_ENST00000354278.3_Missense_Mutation_p.L766V|NLRP12_ENST00000345770.5_Missense_Mutation_p.L767V|NLRP12_ENST00000391773.1_Missense_Mutation_p.L767V|NLRP12_ENST00000391775.3_Missense_Mutation_p.L766V|NLRP12_ENST00000351894.4_Missense_Mutation_p.L766V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	766					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTGGCTATGAGAGCTGCAGAG	0.557													13	105					0	0	0	0	C	54308652	G	C	54308652	3	2	172	1	0	0	0	0	1	0	0	0	10544	942	33	2	913	2	NLRP12	19	54308652	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	2218564	54308652	4820331	339	30587											
CACNG6	59285	broad.mit.edu	37	chr19	54496185	54496185	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccggcggcggggggccgcGggccggcggcgggcgcacgg	3	0	24	14	10	0	0	0	0	0	0	0	0	0	0	3	10	1	1	3	10	1	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:54496185G>A	ENST00000252729.2	+	1	644	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CACNG6_ENST00000352529.1_Silent_p.A18A|CACNG6_ENST00000346968.2_Silent_p.A18A	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	18						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		ggggggccgcgggccggcggc	0.741													4	18					0	0	0	0	A	54496185	G	A	54496185	2	1	172	1	0	0	0	0	0	0	0	1	2586	1103	39	1		1	CACNG6	19	54496185	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	187533	54496185	4632798	340	30588											
EPS8L1	54869	broad.mit.edu	37	chr19	55593493	55593493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcgggccaagccgccctCggaggccgagtacaccgacg	7	3	15	16	6	0	0	0	0	0	0	1	3	0	1	5	3	3	2	5	3	2	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:55593493C>T	ENST00000201647.6	+	10	991	c.935C>T	c.(934-936)tCg>tTg	p.S312L	EPS8L1_ENST00000540810.1_Missense_Mutation_p.S248L|EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Missense_Mutation_p.S294L|EPS8L1_ENST00000245618.5_Missense_Mutation_p.S185L	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	312						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AAGCCGCCCTCGGAGGCCGAG	0.721													7	6					0	0	0	0	T	55593493	C	T	55593493	3	4	172	1	0	0	0	0	1	0	0	0	5233	893	31	1	1021	1	EPS8L1	19	55593493	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	1097308	55593493	3535490	341	30589											
ZNF543	125919	broad.mit.edu	37	chr19	57840200	57840200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctatgaatgcaaagaatgtgGaaaagcctttagtgataggg	15	10	12	4	0	0	3	0	2	0	1	0	4	0	4	1	2	2	1	1	2	8	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:57840200G>C	ENST00000321545.4	+	4	1715	c.1370G>C	c.(1369-1371)gGa>gCa	p.G457A		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		AAAGAATGTGGAAAAGCCTTT	0.488													15	52					0	0	0	0	C	57840200	G	C	57840200	3	2	172	1	0	0	0	0	1	0	0	0	18071	1174	41	2	1384	2	ZNF543	19	57840200	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	2246707	57840200	1288783	342	30590											
ZNF446	55663	broad.mit.edu	37	chr19	58991811	58991811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccggacacacacgagtggGccaggtgtgcagtccccggg	8	4	15	14	3	0	0	0	0	0	0	1	2	1	1	4	4	1	1	4	4	0	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:58991811G>A	ENST00000335841.4	+	6	1103	c.986G>A	c.(985-987)gGc>gAc	p.G329D	ZNF446_ENST00000594369.1_Silent_p.G357G|ZNF446_ENST00000596341.1_Silent_p.G306G			Q9NWS9	ZN446_HUMAN	zinc finger protein 446	0	Pro-rich.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACACGAGTGGGCCAGGTGTGC	0.662													11	40					0	0	0	0	A	58991811	G	A	58991811	3	1	172	1	0	0	0	0	1	0	0	0	18014	1190	42	4	1093	4	ZNF446	19	58991811	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1151611	58991811	137172	343	30591											
FLRT3	23767	broad.mit.edu	37	chr20	14307152	14307152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccttttctggggcttggCacatgagcccacgcacgttg	7	10	12	12	2	1	1	0	1	1	0	1	2	1	1	2	3	2	4	2	3	1	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:14307152C>T	ENST00000378053.3	-	2	1257	c.1001G>A	c.(1000-1002)tGc>tAc	p.C334Y	FLRT3_ENST00000341420.4_Missense_Mutation_p.C334Y|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	334	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TGGGGCTTGGCACATGAGCCC	0.473													22	87					0	0	0	0	T	14307152	C	T	14307152	3	4	172	1	0	0	0	0	1	0	0	0	5985	710	25	4	952	4	FLRT3	20	14307152	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08		14307152	48718368	344	30592											
DNMT3B	1789	broad.mit.edu	37	chr20	31385005	31385005	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgccaggatcgcttccttGagctgttttacatgtatgat	7	15	10	9	1	0	2	0	2	0	0	2	3	1	3	2	1	3	5	2	1	2	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:31385005G>C	ENST00000328111.2	+	14	1711	c.1390G>C	c.(1390-1392)Gag>Cag	p.E464Q	DNMT3B_ENST00000201963.3_Missense_Mutation_p.E456Q|DNMT3B_ENST00000443239.3_Missense_Mutation_p.E402Q|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000456297.2_Missense_Mutation_p.E368Q|DNMT3B_ENST00000348286.2_Missense_Mutation_p.E444Q|DNMT3B_ENST00000353855.2_Missense_Mutation_p.E444Q|DNMT3B_ENST00000344505.4_Missense_Mutation_p.E444Q	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	464	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGCTTCCTTGAGCTGTTTTA	0.572													23	119					0	0	0	0	C	31385005	G	C	31385005	3	2	172	1	0	0	0	0	1	0	0	0	4713	1291	45	2	1480	2	DNMT3B	20	31385005	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	17077853	31385005	31640515	345	30593											
MYH7B	57644	broad.mit.edu	37	chr20	33568448	33568448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagtctatacggcctccgTagtggctgcttacaagggaa	9	9	11	12	2	1	0	0	0	1	0	2	1	2	1	3	3	3	3	3	3	6	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:33568448T>C	ENST00000262873.7	+	6	628	c.536T>C	c.(535-537)gTa>gCa	p.V179A	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	137	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACGGCCTCCGTAGTGGCTGCT	0.547													3	178					0	0	0	0	C	33568448	T	C	33568448	3	2	172	1	0	0	0	0	1	0	0	0	10110	1638	57	5	558	5	MYH7B	20	33568448	Missense_Mutation	SNP	T	TCGA-CR-5248-01A-01D-2012-08	2183443	33568448	29457072	346	30594											
RBL1	5933	broad.mit.edu	37	chr20	35696531	35696531	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctatacgttcacgaaattCttgtggtagatttgacatgt	10	17	8	6	2	3	2	1	1	2	1	3	3	3	2	0	1	1	2	0	1	4	8			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:35696531C>G	ENST00000373664.3	-	3	415	c.349G>C	c.(349-351)Gaa>Caa	p.E117Q	RBL1_ENST00000344359.3_Missense_Mutation_p.E117Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	117					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCACGAAATTCTTGTGGTAGA	0.279													7	16					0	0	0	0	G	35696531	C	G	35696531	3	3	172	1	0	0	0	0	1	0	0	0	13191	922	32	2	2946	2	RBL1	20	35696531	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	2128083	35696531	27328989	347	30595											
CHD6	84181	broad.mit.edu	37	chr20	40045305	40045305	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggctctgagaggctggttcGagaaccagcactgctggtta	8	9	14	10	2	1	2	0	1	1	2	2	4	1	2	1	4	3	6	1	4	2	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:40045305G>A	ENST00000373233.3	-	33	6586	c.6409C>T	c.(6409-6411)Cga>Tga	p.R2137*		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2137					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.R2137*(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGGCTGGTTCGAGAACCAGCA	0.587													5	88					0	0	0	0	A	40045305	G	A	40045305	4	1	172	1	0	0	0	0	0	1	0	0	3358	1066	37	1	1758	1	CHD6	20	40045305	Nonsense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	4348774	40045305	22980215	348	30596											
SLC2A10	81031	broad.mit.edu	37	chr20	45354422	45354422	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caactaacagggcagcccaaCgtgctgtgctatgcctccac	10	7	9	15	1	0	0	0	0	0	0	1	0	1	0	3	1	7	3	3	1	4	2	rs41283042		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:45354422C>T	ENST00000359271.2	+	2	997	c.747C>T	c.(745-747)aaC>aaT	p.N249N		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	249						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGCAGCCCAACGTGCTGTGCT	0.617													38	112					0	0	0	0	T	45354422	C	T	45354422	2	4	172	1	0	0	0	0	0	0	0	1	14627	535	19	1		1	SLC2A10	20	45354422	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	5309117	45354422	17671098	349	30597											
LAMA5	3911	broad.mit.edu	37	chr20	60897442	60897442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggtggcactcggagccctCggcggccggtccacaagcac	6	4	16	15	4	0	0	0	0	0	0	3	1	1	1	3	7	2	2	3	7	1	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:60897442C>T	ENST00000252999.3	-	47	6295	c.6229G>A	c.(6229-6231)Gag>Aag	p.E2077K		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2077	Laminin EGF-like 21.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGGAGCCCTCGGCGGCCGGT	0.706													4	14					0	0	0	0	T	60897442	C	T	60897442	3	4	172	1	0	0	0	0	1	0	0	0	8662	893	31	1	4994	1	LAMA5	20	60897442	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	15543020	60897442	2128078	350	30598											
ARFGAP1	55738	broad.mit.edu	37	chr20	61915227	61915227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggtcacaagcagcagccgGagccggtaaagcccgtgtct	9	5	15	12	3	2	0	1	0	1	0	2	1	2	1	3	4	5	3	3	4	3	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:61915227G>A	ENST00000353546.3	+	10	802	c.742G>A	c.(742-744)Gag>Aag	p.E248K	ARFGAP1_ENST00000519273.2_Intron|ARFGAP1_ENST00000370283.4_Intron|ARFGAP1_ENST00000370275.4_Intron|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E174K|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E195K	NM_175609.1	NP_783202.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	239					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GCAGCAGCCGGAGCCGGTAAA	0.602													27	128					0	0	0	0	A	61915227	G	A	61915227	3	1	172	1	0	0	0	0	1	0	0	0	851	1175	41	2	776	2	ARFGAP1	20	61915227	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1017785	61915227	1110293	351	30599											
PPDPF	79144	broad.mit.edu	37	chr20	62153084	62153084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcgggaagtccaccctccCgttcatggccacggtgttgg	5	11	12	13	3	1	0	1	0	0	0	4	1	3	1	4	4	0	2	4	4	1	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:62153084C>T	ENST00000370179.3	+	4	393	c.197C>T	c.(196-198)cCg>cTg	p.P66L	PPDPF_ENST00000370177.1_Missense_Mutation_p.P92L|PPDPF_ENST00000473620.1_3'UTR	NM_024299.2	NP_077275.1	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and proliferation factor	66					cell differentiation|multicellular organismal development					kidney(1)|lung(2)|ovary(1)	4						TCCACCCTCCCGTTCATGGCC	0.642													15	42					0	0	0	0	T	62153084	C	T	62153084	3	4	172	1	0	0	0	0	1	0	0	0	12377	652	23	1	207	1	PPDPF	20	62153084	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	237857	62153084	872436	352	30600											
ZNF512B	57473	broad.mit.edu	37	chr20	62597952	62597952	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgacaggtttgctcactccGatgggcttgctgaccccaac	7	10	11	13	1	1	2	1	2	0	0	2	3	2	2	3	2	3	4	3	2	1	2	rs143583869	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:62597952G>A	ENST00000450537.1	-	5	636	c.576C>T	c.(574-576)atC>atT	p.I192I	ZNF512B_ENST00000369888.1_Silent_p.I192I|ZNF512B_ENST00000217130.3_Silent_p.I192I			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGCTCACTCCGATGGGCTTGC	0.612													43	105					0	0	0	0	A	62597952	G	A	62597952	2	1	172	1	0	0	0	0	0	0	0	1	18052	1048	37	1		1	ZNF512B	20	62597952	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	444868	62597952	427568	353	30601											
KRTAP19-1	337882	broad.mit.edu	37	chr21	31852536	31852536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccacagccagaaccccgtCtgcagaagctgccacatcca	12	4	8	17	1	1	2	0	0	1	2	2	2	2	2	6	0	6	2	6	0	2	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:31852536C>T	ENST00000390689.2	-	1	127	c.101G>A	c.(100-102)aGa>aAa	p.R34K		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	34	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGAACCCCGTCTGCAGAAGCT	0.587													71	211					0	0	0	0	T	31852536	C	T	31852536	3	4	172	1	0	0	0	0	1	0	0	0	8580	913	32	2	173	2	KRTAP19-1	21	31852536	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08		31852536	16277359	354	30602											
TTC3	7267	broad.mit.edu	37	chr21	38520891	38520891	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtactgtaaaatagaatttCacatgaattgctggaagaag	17	11	9	4	0	1	3	1	1	0	2	1	4	1	4	0	1	2	3	0	1	8	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:38520891C>G	ENST00000399017.2	+	23	4809	c.2062C>G	c.(2062-2064)Cac>Gac	p.H688D	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.H688D|TTC3_ENST00000540756.1_Missense_Mutation_p.H378D|TTC3_ENST00000354749.2_Missense_Mutation_p.H688D	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	688					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AATAGAATTTCACATGAATTG	0.308													24	86					0	0	0	0	G	38520891	C	G	38520891	3	3	172	1	0	0	0	0	1	0	0	0	16793	826	29	2	2148	2	TTC3	21	38520891	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	6668355	38520891	9609004	355	30603											
DYRK1A	1859	broad.mit.edu	37	chr21	38862551	38862551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgtcctacaacctctatGacttgctgagaaacaccaat	12	11	6	12	0	1	2	0	2	1	1	2	3	2	2	3	0	5	2	3	0	5	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:38862551G>A	ENST00000339659.3	+	6	2182	c.712G>A	c.(712-714)Gac>Aac	p.D238N	DYRK1A_ENST00000451934.1_Missense_Mutation_p.D247N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.D19N|DYRK1A_ENST00000398960.2_Missense_Mutation_p.D247N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.D247N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.D247N|DYRK1A_ENST00000338785.3_Missense_Mutation_p.D247N	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	247	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.D247H(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAACCTCTATGACTTGCTGAG	0.413													18	66					0	0	0	0	A	38862551	G	A	38862551	3	1	172	1	0	0	0	0	1	0	0	0	4890	1290	45	2	761	2	DYRK1A	21	38862551	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	341660	38862551	9267344	356	30604											
ETS2	2114	broad.mit.edu	37	chr21	40193623	40193623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtttaagctcgccgaccccGatgaggtatggccagagccc	9	7	12	13	3	0	2	0	1	0	1	1	4	0	2	5	2	2	3	5	2	2	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:40193623G>A	ENST00000360214.3	+	10	1649	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N	ETS2_ENST00000360938.3_Missense_Mutation_p.D397N	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	397					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CGCCGACCCCGATGAGGTATG	0.507													34	88					0	0	0	0	A	40193623	G	A	40193623	3	1	172	1	0	0	0	0	1	0	0	0	5314	1058	37	1	1219	1	ETS2	21	40193623	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1331072	40193623	7936272	357	30605											
RIPK4	54101	broad.mit.edu	37	chr21	43165984	43165984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtttctttcacttcgtcatCaggcttttcacacaggtcct	7	16	6	12	1	5	0	4	0	1	0	7	0	6	0	1	2	0	2	1	2	0	5			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:43165984C>T	ENST00000352483.2	-	7	1079	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	RIPK4_ENST00000542057.1_Missense_Mutation_p.D228N|RIPK4_ENST00000544709.1_Missense_Mutation_p.D228N|RIPK4_ENST00000332512.3_Missense_Mutation_p.D291N			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	291						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						ACTTCGTCATCAGGCTTTTCA	0.522													31	68					0	0	0	0	T	43165984	C	T	43165984	3	4	172	1	0	0	0	0	1	0	0	0	13468	826	29	2	1495	2	RIPK4	21	43165984	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	2972361	43165984	4963911	358	30606											
ITGB2	3689	broad.mit.edu	37	chr21	46320373	46320373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcagccgcgtgacgttGcgccagccgatttcctcctg	6	8	11	16	5	0	1	0	1	0	0	2	2	2	1	6	0	4	2	6	0	0	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:46320373G>A	ENST00000397850.2	-	8	1211	c.759C>T	c.(757-759)cgC>cgT	p.R253R	ITGB2_ENST00000302347.5_Silent_p.R253R|ITGB2_ENST00000355153.4_Silent_p.R253R|ITGB2_ENST00000397854.3_Silent_p.R196R|ITGB2_ENST00000397857.1_Silent_p.R253R|ITGB2_ENST00000397852.1_Silent_p.R253R			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	253	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCGTGACGTTGCGCCAGCCGA	0.652													11	46					0	0	0	0	A	46320373	G	A	46320373	2	1	172	1	0	0	0	0	0	0	0	1	7947	1306	46	4		4	ITGB2	21	46320373	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	3154389	46320373	1809522	359	30607											
COL6A2	1292	broad.mit.edu	37	chr21	47536580	47536580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacagggtgaatttggagccGacggtcgcaaggtaggctgg	9	7	17	8	3	0	1	0	1	0	0	1	3	0	2	1	6	1	3	1	6	3	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:47536580G>A	ENST00000300527.4	+	9	1047	c.943G>A	c.(943-945)Gac>Aac	p.D315N	COL6A2_ENST00000357838.4_Missense_Mutation_p.D315N|COL6A2_ENST00000397763.1_Missense_Mutation_p.D315N|COL6A2_ENST00000409416.1_Missense_Mutation_p.D315N|COL6A2_ENST00000310645.5_Missense_Mutation_p.D315N	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	315	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ATTTGGAGCCGACGGTCGCAA	0.617													13	32					0	0	0	0	A	47536580	G	A	47536580	3	1	172	1	0	0	0	0	1	0	0	0	3730	1058	37	1	973	1	COL6A2	21	47536580	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1216207	47536580	593315	360	30608											
SERPIND1	3053	broad.mit.edu	37	chr22	21134215	21134215	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataatctcttccgtaagctGactcatcgcctcttcaggag	9	12	7	13	2	4	1	2	1	2	0	7	2	5	2	2	1	1	2	2	1	2	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:21134215G>A	ENST00000215727.5	+	2	898	c.615G>A	c.(613-615)ctG>ctA	p.L205L	PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.L205L|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	205	Glycosaminoglycan-binding site.				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)	TCCGTAAGCTGACTCATCGCC	0.418													17	72					0	0	0	0	A	21134215	G	A	21134215	2	1	172	1	0	0	0	0	0	0	0	1	14197	1277	45	2		2	SERPIND1	22	21134215	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08		21134215	30170351	361	30609											
HIC2	23119	broad.mit.edu	37	chr22	21800507	21800507	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcctacggggacaacttGtatgtgtgcattccctgcgc	6	12	12	11	2	0	0	0	0	0	0	2	1	2	1	2	2	4	2	2	2	3	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:21800507G>C	ENST00000443632.2	+	2	1695	c.1323G>C	c.(1321-1323)ttG>ttC	p.L441F	HIC2_ENST00000407464.2_Missense_Mutation_p.L441F|HIC2_ENST00000407598.2_Missense_Mutation_p.L441F			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	441					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GGGACAACTTGTATGTGTGCA	0.622													18	102					0	0	0	0	C	21800507	G	C	21800507	3	2	172	1	0	0	0	0	1	0	0	0	7152	1368	48	4	1329	4	HIC2	22	21800507	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	666292	21800507	29504059	362	30610											
GAS2L1	10634	broad.mit.edu	37	chr22	29706633	29706633	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcccacacctgcaggtgctGaggagccacgtgatggtgcg	7	7	15	12	2	0	2	0	2	0	0	0	3	0	3	3	3	5	2	3	3	0	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:29706633G>C	ENST00000471961.1	+	3	1795	c.747G>C	c.(745-747)ctG>ctC	p.L249L	GAS2L1_ENST00000407854.1_Silent_p.L249L|GAS2L1_ENST00000407647.2_Silent_p.L249L|GAS2L1_ENST00000406549.3_Silent_p.L249L|GAS2L1_ENST00000403764.1_Silent_p.L249L|GAS2L1_ENST00000360113.2_Silent_p.L249L|GAS2L1_ENST00000341313.6_Silent_p.L249L			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	249	GAR.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						TGCAGGTGCTGAGGAGCCACG	0.711													4	16					0	0	0	0	C	29706633	G	C	29706633	2	2	172	1	0	0	0	0	0	0	0	1	6295	1277	45	2		2	GAS2L1	22	29706633	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	7906126	29706633	21597933	363	30611											
MORC2	22880	broad.mit.edu	37	chr22	31333850	31333850	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgctcccccattgctcGgagcaggtgccggtactcct	5	9	12	15	2	0	0	0	0	0	0	3	1	2	1	4	4	5	4	4	4	1	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:31333850G>A	ENST00000215862.4	-	15	2498	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	MORC2_ENST00000397641.2_Nonsense_Mutation_p.R441*|MORC2_ENST00000469915.1_Intron	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	441							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCCATTGCTCGGAGCAGGTGC	0.567													12	63					0	0	0	0	A	31333850	G	A	31333850	4	1	172	1	0	0	0	0	0	1	0	0	9772	1124	39	1	1829	1	MORC2	22	31333850	Nonsense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1627217	31333850	19970716	364	30612											
LIMK2	3985	broad.mit.edu	37	chr22	31654293	31654293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaggtgttcagaatgccagGattccctcaccaactggtac	10	10	9	12	0	3	1	3	0	0	1	4	2	4	2	3	3	3	2	3	3	3	3	rs35923988		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:31654293G>A	ENST00000331728.4	+	3	247	c.133G>A	c.(133-135)Gat>Aat	p.D45N	LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000340552.4_Missense_Mutation_p.D24N|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Missense_Mutation_p.D24N	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	45	LIM zinc-binding 1.		D -> N (in dbSNP:rs35923988).			mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGAATGCCAGGATTCCCTCAC	0.517													15	64					0	0	0	0	A	31654293	G	A	31654293	3	1	172	1	0	0	0	0	1	0	0	0	8856	1174	41	2	200	2	LIMK2	22	31654293	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	320443	31654293	19650273	365	30613											
LIMK2	3985	broad.mit.edu	37	chr22	31654368	31654368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actactgggggaagtttgggGagttctgtcatgggtgctcc	6	12	16	7	0	2	0	1	0	1	0	3	2	3	2	1	5	2	3	1	5	2	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:31654368G>A	ENST00000331728.4	+	3	322	c.208G>A	c.(208-210)Gag>Aag	p.E70K	LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000340552.4_Missense_Mutation_p.E49K|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Missense_Mutation_p.E49K	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	70						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GAAGTTTGGGGAGTTCTGTCA	0.522													17	53					0	0	0	0	A	31654368	G	A	31654368	3	1	172	1	0	0	0	0	1	0	0	0	8856	1175	41	2	275	2	LIMK2	22	31654368	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	75	31654368	19650198	366	30614											
CACNG2	10369	broad.mit.edu	37	chr22	36960607	36960607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagcccttgatgcccaCgggggaggcgtccctggagt	6	8	16	11	2	0	2	0	2	0	0	1	4	1	4	3	4	2	1	3	4	1	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:36960607C>T	ENST00000300105.6	-	4	1744	c.763G>A	c.(763-765)Gtg>Atg	p.V255M		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	255					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TTGATGCCCACGGGGGAGGCG	0.687													32	91					0	0	0	0	T	36960607	C	T	36960607	3	4	172	1	0	0	0	0	1	0	0	0	2582	536	19	1	212	1	CACNG2	22	36960607	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	5306239	36960607	14343959	367	30615											
POLR2F	5435	broad.mit.edu	37	chr22	38437089	38437089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccaggaggcggcggctcaGagaggagtgactcgcctgaa	9	6	16	10	3	1	3	1	2	0	1	3	6	2	5	2	5	0	1	2	5	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:38437089G>A	ENST00000407936.1	+	6	558	c.467G>A	c.(466-468)aGa>aAa	p.R156K				P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	0					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					cggcggctcagagaggagtga	0.527													36	151					0	0	0	0	A	38437089	G	A	38437089	3	1	172	1	0	0	0	0	1	0	0	0	12291	957	33	2		2	POLR2F	22	38437089	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	1476482	38437089	12867477	368	30616											
MLC1	23209	broad.mit.edu	37	chr22	50500060	50500060	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccaggctttctccttgtcGaactccttcagggggctcct	4	13	9	15	1	2	0	1	0	1	0	7	1	5	0	4	3	1	2	4	3	1	3			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:50500060G>A	ENST00000311597.5	-	12	1692	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000431262.2_Silent_p.F332F|MLC1_ENST00000538737.1_Silent_p.F328F|MLC1_ENST00000450140.2_Silent_p.F310F|MLC1_ENST00000395876.2_Silent_p.F362F|MLC1_ENST00000535444.1_Silent_p.F283F	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	362						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TCTCCTTGTCGAACTCCTTCA	0.652													12	56					0	0	0	0	A	50500060	G	A	50500060	2	1	172	1	0	0	0	0	0	0	0	1	9681	1049	37	1		1	MLC1	22	50500060	Silent	SNP	G	TCGA-CR-5248-01A-01D-2012-08	12062971	50500060	804506	369	30617											
MIOX	55586	broad.mit.edu	37	chr22	50927676	50927676	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacagagctcgggatgtatCagccccactgtgggctcgac	8	7	13	13	2	1	1	1	0	0	1	3	3	1	2	2	2	2	4	2	2	1	1			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:50927676C>T	ENST00000395732.3	+	7	560	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	MIOX_ENST00000395733.3_Silent_p.I190I|MIOX_ENST00000216075.6_Nonsense_Mutation_p.Q180*			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	180					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGGGATGTATCAGCCCCACTG	0.697													4	17					0	0	0	0	T	50927676	C	T	50927676	4	4	172	1	0	0	0	0	0	1	0	0	9659	827	29	2	564	2	MIOX	22	50927676	Nonsense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	427616	50927676	376890	370	30618											
CXorf22	170063	broad.mit.edu	37	chrX	35974178	35974178	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaattttaaaccttgtttCatgggtgaacgttcagaaat	12	16	7	6	1	2	2	2	1	0	1	2	2	2	2	1	1	2	2	1	1	5	6			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:35974178C>T	ENST00000297866.5	+	8	1341	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	425										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AACCTTGTTTCATGGGTGAAC	0.363													17	15					0	0	0	0	T	35974178	C	T	35974178	2	4	172	1	0	0	0	0	0	0	0	1	4134	825	29	2		2	CXorf22	23	35974178	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08		35974178	119296382	371	30619											
HUWE1	10075	broad.mit.edu	37	chrX	53618007	53618007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtgggttaaaaggtactCtgtggcctgctccatggtgc	7	11	15	8	0	1	0	0	0	1	0	2	0	2	0	2	5	3	3	2	5	3	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:53618007C>T	ENST00000342160.3	-	33	4505	c.4048G>A	c.(4048-4050)Gag>Aag	p.E1350K	HUWE1_ENST00000218328.8_Missense_Mutation_p.E1350K|HUWE1_ENST00000262854.6_Missense_Mutation_p.E1350K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1350	UBA.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAAAGGTACTCTGTGGCCTGC	0.498													14	11					0	0	0	0	T	53618007	C	T	53618007	3	4	172	1	0	0	0	0	1	0	0	0	7514	922	32	2	9280	2	HUWE1	23	53618007	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	17643829	53618007	101652553	372	30620											
NHSL2	340527	broad.mit.edu	37	chrX	71359916	71359916	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaggtcggtcagcaagtctGagccggaagatgatattgag	11	9	15	6	2	2	5	1	4	1	1	3	6	2	6	1	3	2	1	1	3	3	2			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:71359916G>C	ENST00000373677.1	+	2	2682	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	NHSL2_ENST00000540800.1_Missense_Mutation_p.E840Q|NHSL2_ENST00000510661.1_Missense_Mutation_p.E609Q|NHSL2_ENST00000535692.1_Missense_Mutation_p.E474Q			F5H593	F5H593_HUMAN	NHS-like 2	840										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CAGCAAGTCTGAGCCGGAAGA	0.522													7	15					0	0	0	0	C	71359916	G	C	71359916	3	2	172	1	0	0	0	0	1	0	0	0	10482	1291	45	2	2540	2	NHSL2	23	71359916	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	17741909	71359916	83910644	373	30621											
ELF4	2000	broad.mit.edu	37	chrX	129201444	129201444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtctgcagggtcagggccGagcccgaccccacgggggcc	5	4	16	16	4	2	0	1	0	1	0	3	2	2	0	5	4	2	1	5	4	0	0			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:129201444G>A	ENST00000308167.5	-	9	1623	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	ELF4_ENST00000335997.7_Missense_Mutation_p.S415L	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	415					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GGTCAGGGCCGAGCCCGACCC	0.587			T	ERG	AML								25	38					0	0	0	0	A	129201444	G	A	129201444	3	1	172	1	0	0	0	0	1	0	0	0	5094	1059	37	1	751	1	ELF4	23	129201444	Missense_Mutation	SNP	G	TCGA-CR-5248-01A-01D-2012-08	57841528	129201444	26069116	374	30622											
ARHGEF6	9459	broad.mit.edu	37	chrX	135795499	135795499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaagttctttagcatattCtttttcagtgtccaggatgt	8	18	8	7	0	3	1	1	1	2	0	4	2	4	2	1	1	1	2	1	1	3	7			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:135795499C>T	ENST00000250617.6	-	7	1968	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E128K|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E101K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E101K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	255	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.E255*(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTAGCATATTCTTTTTCAGTG	0.328													24	28					0	0	0	0	T	135795499	C	T	135795499	3	4	172	1	0	0	0	0	1	0	0	0	912	922	32	2	1631	2	ARHGEF6	23	135795499	Missense_Mutation	SNP	C	TCGA-CR-5248-01A-01D-2012-08	6594055	135795499	19475061	375	30623											
PNCK	139728	broad.mit.edu	37	chrX	152936781	152936781	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcccacacatctacggcCttcccgtagggtttctgctc	6	10	10	15	2	2	0	0	0	2	0	4	0	3	0	3	3	2	3	3	3	2	4			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:152936781C>T	ENST00000393831.2	-	7	1076	c.642G>A	c.(640-642)aaG>aaA	p.K214K	PNCK_ENST00000370145.4_Silent_p.K208K|PNCK_ENST00000370150.1_Silent_p.K191K|PNCK_ENST00000370142.1_Silent_p.K214K|PNCK_ENST00000340888.3_Silent_p.K191K|PNCK_ENST00000447676.2_Silent_p.K274K	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	191	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCTACGGCCTTCCCGTAGG	0.642													4	38					0	0	0	0	T	152936781	C	T	152936781	2	4	172	1	0	0	0	0	0	0	0	1	12217	680	24	4		4	PNCK	23	152936781	Silent	SNP	C	TCGA-CR-5248-01A-01D-2012-08	17141282	152936781	2333779	376	30624											
GPR153	387509	broad.mit.edu	37	chr1	6313858	6313858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcagagaggttttggCgggctccgagccatcgatgg	6	9	17	9	3	1	1	0	0	1	1	3	4	2	1	2	5	2	3	2	5	0	2			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr1:6313858C>T	ENST00000377893.2	-	3	965	c.706G>A	c.(706-708)Gcc>Acc	p.A236T		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	236						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GAGGTTTTGGCGGGCTCCGAG	0.677													3	61					0	0	0	0	T	6313858	C	T	6313858	3	4	173	1	0	0	0	0	1	0	0	0	6708	768	27	1	1139	1	GPR153	1	6313858	Missense_Mutation	SNP	C	TCGA-CR-5249-01A-01D-1512-08		6313858	242936763	1	30625											
KPRP	448834	broad.mit.edu	37	chr1	152732580	152732580	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagggcgtcctgcagtgtgCcagcctcagggaagattctc	8	8	14	11	1	2	2	1	0	1	2	4	3	3	3	3	2	3	1	3	2	1	1			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr1:152732580C>T	ENST00000368773.1	+	2	574	c.516C>T	c.(514-516)tgC>tgT	p.C172C	KPRP_ENST00000606109.1_Silent_p.C172C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	172	Gln-rich.					cytoplasm		p.C172C(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCAGTGTGCCAGCCTCAGG	0.522													4	137					0	0	0	0	T	152732580	C	T	152732580	2	4	173	1	0	0	0	0	0	0	0	1	8488	747	26	4		4	KPRP	1	152732580	Silent	SNP	C	TCGA-CR-5249-01A-01D-1512-08	146418722	152732580	96518041	2	30626											
LHX9	56956	broad.mit.edu	37	chr1	197896796	197896796	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcagaagaccaagcgcaTgcgaacctctttcaagcatc	12	7	8	14	3	2	2	1	0	1	2	4	3	2	2	2	0	4	3	2	0	4	1			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr1:197896796T>C	ENST00000367390.3	+	5	809	c.782T>C	c.(781-783)aTg>aCg	p.M261T	LHX9_ENST00000367391.1_Missense_Mutation_p.M261T|LHX9_ENST00000367387.4_Missense_Mutation_p.M270T|LHX9_ENST00000337020.2_Missense_Mutation_p.M270T|LHX9_ENST00000561173.1_Missense_Mutation_p.M276T	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	270					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						ACCAAGCGCATGCGAACCTCT	0.522													9	348					0	0	0	0	C	197896796	T	C	197896796	3	2	173	1	0	0	0	0	1	0	0	0	8831	1464	51	5	855	5	LHX9	1	197896796	Missense_Mutation	SNP	T	TCGA-CR-5249-01A-01D-1512-08	45164216	197896796	51353825	3	30627											
LAX1	54900	broad.mit.edu	37	chr1	203743036	203743038	+	In_Frame_Del	DEL	ACA	ACA	-																															gcaatgccttccaggagcatAcagcccacatccatgccaca																										TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr1:203743036_203743038delACA	ENST00000442561.2	+	5	814_816	c.424_426delACA	c.(424-426)del	p.T142del	LAX1_ENST00000367217.5_In_Frame_Del_p.T126del|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	142					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAGGAGCATACAGCCCACATCC	0.527													19	73	---	---	---	---					-	203743038	ACA	-	203743036	7	5	173	1	0	1	0	1	0	0	0	0	8701	391	14	0	487	0	LAX1	1	203743036	In_Frame_Del	DEL	ACA	TCGA-CR-5249-01A-01D-1512-08	5846240	203743036	45507585	4	30628											
CNTN2	6900	broad.mit.edu	37	chr1	205038678	205038678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccccggagagctcatcGtcaactggacggtaagctgc	9	6	13	13	3	2	1	2	0	0	1	3	4	2	2	2	3	5	3	2	3	2	1			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr1:205038678G>A	ENST00000331830.4	+	17	2469	c.2185G>A	c.(2185-2187)Gtc>Atc	p.V729I		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	729	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAGCTCATCGTCAACTGGAC	0.612													3	34					0	0	0	0	A	205038678	G	A	205038678	3	1	173	1	0	0	0	0	1	0	0	0	3671	1145	40	1	2247	1	CNTN2	1	205038678	Missense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08	1295642	205038678	44211943	5	30629											
EMX1	2016	broad.mit.edu	37	chr2	73161022	73161022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctcccatcacatcaaccGgtggcgcattgccacgaagc	9	6	11	15	3	2	0	2	0	0	0	3	1	3	0	3	3	3	2	3	3	2	1			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr2:73161022G>T	ENST00000258106.6	+	3	1190	c.812G>T	c.(811-813)cGg>cTg	p.R271L	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	238						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						CACATCAACCGGTGGCGCATT	0.577													3	84					0.004672	0.00506682	1	0	T	73161022	G	T	73161022	3	4	173	1	0	0	0	0	1	0	0	0	5145	1116	39	3	822	3	EMX1	2	73161022	Missense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08		73161022	170038351	6	30630											
SNRNP200	23020	broad.mit.edu	37	chr2	96970571	96970571	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccggcgggtccggtcaatGagagaacggtcagcttggag	8	7	16	10	4	2	2	2	1	0	1	4	4	4	3	2	5	2	1	2	5	2	1			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr2:96970571G>A	ENST00000323853.5	-	2	158	c.81C>T	c.(79-81)ctC>ctT	p.L27L	SNRNP200_ENST00000349783.5_Silent_p.L27L	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	27						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCCGGTCAATGAGAGAACGGT	0.507													22	45					0	0	0	0	A	96970571	G	A	96970571	2	1	173	1	0	0	0	0	0	0	0	1	14940	1277	45	2		2	SNRNP200	2	96970571	Silent	SNP	G	TCGA-CR-5249-01A-01D-1512-08	23809549	96970571	146228802	7	30631											
RGPD3	653489	broad.mit.edu	37	chr2	107032392	107032392	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactttttgtggtggaacTgagcttctgaaccaattctt	8	16	9	8	0	2	2	0	2	2	0	2	3	2	3	1	2	4	2	1	2	3	5			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr2:107032392T>G	ENST00000409886.3	-	21	5065	c.4978A>C	c.(4978-4980)Agt>Cgt	p.S1660R	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1660R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1660					intracellular transport		binding	p.S1660R(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTGGTGGAACTGAGCTTCTGA	0.383													4	312					0	0	0	0	G	107032392	T	G	107032392	3	3	173	1	0	0	0	0	1	0	0	0	13369	1580	55	5	310	5	RGPD3	2	107032392	Missense_Mutation	SNP	T	TCGA-CR-5249-01A-01D-1512-08	10061821	107032392	136166981	8	30632											
NPHP3	27031	broad.mit.edu	37	chr3	132441028	132441028	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccgcggggcagcgaccCgggcccggcccctgctgccg	3	2	15	21	6	0	0	0	0	0	0	0	1	0	0	7	4	3	2	7	4	0	0			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr3:132441028C>A	ENST00000326682.8	-	1	248	c.172G>T	c.(172-174)Ggg>Tgg	p.G58W	NPHP3_ENST00000343113.4_Missense_Mutation_p.G58W|NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000337331.5_Missense_Mutation_p.G58W|NPHP3_ENST00000383282.2_Missense_Mutation_p.G58W			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	58					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ggcagcgacccgggcccggcc	0.766													2	2					1	1	1	0	A	132441028	C	A	132441028	3	1	173	1	0	0	0	0	1	0	0	0	10650	652	23	3	3928	3	NPHP3	3	132441028	Missense_Mutation	SNP	C	TCGA-CR-5249-01A-01D-1512-08		132441028	65581402	9	30633											
SLITRK3	22865	broad.mit.edu	37	chr3	164906486	164906486	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaccaccacctccaccAtcctcaaacagcctgtggca	10	5	5	21	1	1	0	1	0	0	0	3	0	3	0	9	1	2	1	9	1	1	0			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr3:164906486A>G	ENST00000475390.1	-	2	2576	c.2133T>C	c.(2131-2133)gaT>gaC	p.D711D	SLITRK3_ENST00000241274.3_Silent_p.D711D			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	711						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						cacctccaccaTCCTCAAACA	0.582										HNSCC(40;0.11)			14	72					0	0	0	0	G	164906486	A	G	164906486	2	3	173	1	0	0	0	0	0	0	0	1	14832	214	8	5		5	SLITRK3	3	164906486	Silent	SNP	A	TCGA-CR-5249-01A-01D-1512-08	32465458	164906486	33115944	10	30634											
SAMD7	344658	broad.mit.edu	37	chr3	169642896	169642896	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcagtggccagaaggaatGaaatgattcaacggcatcat	15	7	12	7	1	2	3	2	2	0	1	2	4	2	4	1	4	1	2	1	4	4	1			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr3:169642896G>C	ENST00000428432.2	+	5	651	c.262G>C	c.(262-264)Gaa>Caa	p.E88Q	SAMD7_ENST00000335556.3_Missense_Mutation_p.E88Q	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	88										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAGAAGGAATGAAATGATTCA	0.363													3	105					0	0	0	0	C	169642896	G	C	169642896	3	2	173	1	0	0	0	0	1	0	0	0	13909	1291	45	2	272	2	SAMD7	3	169642896	Missense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08	4736410	169642896	28379534	11	30635											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			139	67					0	0	0	0	A	178936082	G	A	178936082	3	1	173	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08	9293186	178936082	19086348	12	30636											
IQCG	84223	broad.mit.edu	37	chr3	197665623	197665623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggaagtttgtctagattcGttccttctagattcatttct	7	20	7	7	1	4	2	1	0	3	2	6	3	5	3	1	1	0	2	1	1	3	9			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr3:197665623G>A	ENST00000265239.6	-	5	735	c.311C>T	c.(310-312)aCg>aTg	p.T104M	IQCG_ENST00000455191.1_Missense_Mutation_p.T104M|IQCG_ENST00000453254.1_Missense_Mutation_p.T104M|IQCG_ENST00000480302.1_5'UTR	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	104										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GTCTAGATTCGTTCCTTCTAG	0.358													32	1085					0	0	0	0	A	197665623	G	A	197665623	3	1	173	1	0	0	0	0	1	0	0	0	7863	1145	40	1	1052	1	IQCG	3	197665623	Missense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08	18729541	197665623	356807	13	30637											
THAP9	79725	broad.mit.edu	37	chr4	83827690	83827690	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactacaggatgatcaagAagagaaagggtttacgatta	18	8	11	4	1	1	4	1	1	0	3	1	7	1	5	0	2	3	1	0	2	7	4			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr4:83827690A>G	ENST00000302236.5	+	3	541	c.490A>G	c.(490-492)Aag>Gag	p.K164E		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	164							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GATGATCAAGAAGAGAAAGGG	0.403													49	117					0	0	0	0	G	83827690	A	G	83827690	3	3	173	1	0	0	0	0	1	0	0	0	15945	247	9	5	500	5	THAP9	4	83827690	Missense_Mutation	SNP	A	TCGA-CR-5249-01A-01D-1512-08		83827690	107326586	14	30638											
CCDC110	256309	broad.mit.edu	37	chr4	186379447	186379447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattctcgttgaagatgcCgcatctcaaattccaaggta	13	12	7	9	2	2	2	1	1	2	1	5	2	3	2	2	1	1	3	2	1	6	5			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr4:186379447C>T	ENST00000307588.3	-	6	2369	c.2294G>A	c.(2293-2295)cGg>cAg	p.R765Q	CCDC110_ENST00000510617.1_Missense_Mutation_p.R765Q|CCDC110_ENST00000393540.3_Missense_Mutation_p.R728Q	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	765						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTGAAGATGCCGCATCTCAAA	0.308													18	46					0	0	0	0	T	186379447	C	T	186379447	3	4	173	1	0	0	0	0	1	0	0	0	2772	652	23	1	215	1	CCDC110	4	186379447	Missense_Mutation	SNP	C	TCGA-CR-5249-01A-01D-1512-08	102551757	186379447	4774829	15	30639											
CHD1	1105	broad.mit.edu	37	chr5	98237004	98237004	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaatctgaaccagactgaGatggagatcctgacccagac	13	7	10	11	0	1	7	0	4	1	4	2	9	2	7	3	1	1	0	3	1	2	0			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr5:98237004G>C	ENST00000284049.3	-	5	622	c.473C>G	c.(472-474)tCt>tGt	p.S158C		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	158					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ACCAGACTGAGATGGAGATCC	0.348													52	176					0	0	0	0	C	98237004	G	C	98237004	3	2	173	1	0	0	0	0	1	0	0	0	3352	942	33	2	4783	2	CHD1	5	98237004	Missense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08		98237004	82678256	16	30640											
C6orf58	352999	broad.mit.edu	37	chr6	127911331	127911331	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctacaaccttgattagAtcatataagttccagaaggg	13	13	7	8	0	1	3	1	1	0	2	3	3	3	3	3	1	2	1	3	1	6	7			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr6:127911331A>G	ENST00000329722.7	+	5	786	c.774A>G	c.(772-774)agA>agG	p.R258R		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	258						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CCTTGATTAGATCATATAAGT	0.408													68	145					0	0	0	0	G	127911331	A	G	127911331	2	3	173	1	0	0	0	0	0	0	0	1	2389	330	12	5		5	C6orf58	6	127911331	Silent	SNP	A	TCGA-CR-5249-01A-01D-1512-08		127911331	43203736	17	30641											
SYNE1	23345	broad.mit.edu	37	chr6	152461285	152461285	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggagaagctcccatcGgtcaatcacacctggcaaga	11	6	11	13	1	2	2	2	0	0	2	4	3	3	2	3	4	1	2	3	4	3	0			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr6:152461285G>A	ENST00000367255.5	-	140	25859	c.25258C>T	c.(25258-25260)Cga>Tga	p.R8420*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R8372*|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Nonsense_Mutation_p.R598*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R8032*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.R2944*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R8420*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R8372*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.R575*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8420					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCCCATCGGTCAATCACA	0.453										HNSCC(10;0.0054)			26	85					0	0	0	0	A	152461285	G	A	152461285	4	1	173	1	0	0	0	0	0	1	0	0	15536	1124	39	1	1163	1	SYNE1	6	152461285	Nonsense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08	24549954	152461285	18653782	18	30642											
DNAH11	8701	broad.mit.edu	37	chr7	21598482	21598482	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtcctgttttacttcacaAgatatggaatatcacataga	13	14	7	7	0	2	2	2	0	0	2	3	3	3	3	1	2	1	1	1	2	6	6			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr7:21598482A>T	ENST00000328843.6	+	3	589	c.558A>T	c.(556-558)caA>caT	p.Q186H	DNAH11_ENST00000409508.3_Missense_Mutation_p.Q186H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	186	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTACTTCACAAGATATGGAAT	0.333									Kartagener syndrome				4	26					0	0	0	0	T	21598482	A	T	21598482	3	4	173	1	0	0	0	0	1	0	0	0	4636	69	3	5	568	5	DNAH11	7	21598482	Missense_Mutation	SNP	A	TCGA-CR-5249-01A-01D-1512-08		21598482	137540181	19	30643											
FZD1	8321	broad.mit.edu	37	chr7	90895605	90895605	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgggccaggtggacggCgatgtgctgagcggagtgtg	5	7	21	8	4	0	1	0	1	0	0	0	4	0	3	1	5	2	2	1	5	0	0			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr7:90895605C>T	ENST00000287934.2	+	1	1823	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	470					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			AGGTGGACGGCGATGTGCTGA	0.622													5	209					0	0	0	0	T	90895605	C	T	90895605	2	4	173	1	0	0	0	0	0	0	0	1	6176	755	27	1		1	FZD1	7	90895605	Silent	SNP	C	TCGA-CR-5249-01A-01D-1512-08	69297123	90895605	68243058	20	30644											
BMS1	9790	broad.mit.edu	37	chr10	43318580	43318580	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagggaatgtttaattcTgccttggaagtggccaaatt	10	14	11	6	0	1	0	0	0	1	0	1	2	1	2	2	3	1	2	2	3	5	6			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr10:43318580T>A	ENST00000374518.4	+	20	3210	c.3147T>A	c.(3145-3147)tcT>tcA	p.S1049S		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1049					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTTTAATTCTGCCTTGGAAG	0.403													4	165					0	0	0	0	A	43318580	T	A	43318580	2	1	173	1	0	0	0	0	0	0	0	1	1477	1567	55	5		5	BMS1	10	43318580	Silent	SNP	T	TCGA-CR-5249-01A-01D-1512-08		43318580	92216167	21	30645											
HELLS	3070	broad.mit.edu	37	chr10	96348062	96348062	+	Frame_Shift_Del	DEL	T	T	-																															tcctaaacgagaagtagtcgTttatgctccactttcaaaga																										TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr10:96348062delT	ENST00000348459.5	+	13	1508	c.1403delT	c.(1402-1404)gtfs	p.V468fs	HELLS_ENST00000371332.4_Frame_Shift_Del_p.V514fs|HELLS_ENST00000394045.1_Frame_Shift_Del_p.V370fs|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	468					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GAAGTAGTCGTTTATGCTCCA	0.363													35	82	---	---	---	---					-	96348062	T	-	96348062	7	5	173	1	0	1	0	1	0	0	0	0	7096	1725	60	0	1453	0	HELLS	10	96348062	Frame_Shift_Del	DEL	T	TCGA-CR-5249-01A-01D-1512-08	53029482	96348062	39186685	22	30646											
SORCS1	114815	broad.mit.edu	37	chr10	108448071	108448071	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaatcttcttgttagccAagaacattccctttatccct	9	16	4	12	0	3	1	1	0	2	1	5	1	5	1	3	0	2	1	3	0	5	6			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr10:108448071A>G	ENST00000263054.6	-	10	1446	c.1439T>C	c.(1438-1440)tTg>tCg	p.L480S	SORCS1_ENST00000369698.1_Missense_Mutation_p.L15S|SORCS1_ENST00000344440.6_Missense_Mutation_p.L480S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	480						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTTGTTAGCCAAGAACATTCC	0.403													3	96					0	0	0	0	G	108448071	A	G	108448071	3	3	173	1	0	0	0	0	1	0	0	0	15018	131	5	5	2369	5	SORCS1	10	108448071	Missense_Mutation	SNP	A	TCGA-CR-5249-01A-01D-1512-08	12100009	108448071	27086676	23	30647											
PTPRE	5791	broad.mit.edu	37	chr10	129877950	129877950	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcagagaccacatatggtGcaaaccctggtaagaatctg	13	9	9	10	0	2	2	1	0	1	2	2	3	2	2	2	2	2	2	2	2	4	3			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr10:129877950G>A	ENST00000254667.3	+	20	2298	c.2019G>A	c.(2017-2019)gtG>gtA	p.V673V	PTPRE_ENST00000419012.2_Silent_p.V673V|PTPRE_ENST00000306042.5_Silent_p.V615V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	673	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CACATATGGTGCAAACCCTGG	0.383													27	100					0	0	0	0	A	129877950	G	A	129877950	2	1	173	1	0	0	0	0	0	0	0	1	12882	1306	46	4		4	PTPRE	10	129877950	Silent	SNP	G	TCGA-CR-5249-01A-01D-1512-08	21429879	129877950	5656797	24	30648											
KCNA4	3739	broad.mit.edu	37	chr11	30032800	30032800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcagaaggcccagttcccGcatgctggctctgagggtgt	7	9	14	11	1	2	2	1	1	1	1	3	3	3	2	2	3	1	4	2	3	1	1			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr11:30032800G>A	ENST00000328224.6	-	2	2659	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	476						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCCAGTTCCCGCATGCTGGCT	0.522													8	79					0	0	0	0	A	30032800	G	A	30032800	3	1	173	1	0	0	0	0	1	0	0	0	8058	1086	38	1	539	1	KCNA4	11	30032800	Missense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08		30032800	104973716	25	30649											
OR4A5	81318	broad.mit.edu	37	chr11	51411725	51411725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcttttcctgactgtaaGttttaagggagcttaggatg	8	15	10	8	0	1	1	0	1	1	0	2	3	2	3	2	2	1	3	2	2	3	6			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr11:51411725G>A	ENST00000319760.6	-	1	723	c.671C>T	c.(670-672)aCt>aTt	p.T224I		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				CTGACTGTAAGTTTTAAGGGA	0.413													13	102					0	0	0	0	A	51411725	G	A	51411725	3	1	173	1	0	0	0	0	1	0	0	0	11114	1029	36	4	280	4	OR4A5	11	51411725	Missense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08	21378925	51411725	83594791	26	30650											
SLC22A25	387601	broad.mit.edu	37	chr11	62997044	62997044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatggtatactatgacgttGaacattataaggaaaaccat	16	12	8	5	1	0	3	0	3	0	0	0	4	0	4	1	2	3	2	1	2	8	6			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr11:62997044G>C	ENST00000306494.6	-	1	80	c.81C>G	c.(79-81)ttC>ttG	p.F27L	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	27					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTATGACGTTGAACATTATAA	0.463													5	123					0	0	0	0	C	62997044	G	C	62997044	3	2	173	1	0	0	0	0	1	0	0	0	14542	1281	45	2	1598	2	SLC22A25	11	62997044	Missense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08	11585319	62997044	72009472	27	30651											
ABCC9	10060	broad.mit.edu	37	chr12	21991022	21991022	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttactcacctaaaggcccGaatggtggtgagtccttctg	8	12	11	10	1	2	1	1	1	1	0	3	2	3	1	3	3	1	1	3	3	4	4			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr12:21991022G>T	ENST00000261200.4	-	28	3555	c.3556C>A	c.(3556-3558)Cgg>Agg	p.R1186R	ABCC9_ENST00000261201.4_Silent_p.R1186R|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.R1150R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1186	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTAAAGGCCCGAATGGTGGTG	0.418													3	62					1	1	1	0	T	21991022	G	T	21991022	2	4	173	1	0	0	0	0	0	0	0	1	59	1057	37	3		3	ABCC9	12	21991022	Silent	SNP	G	TCGA-CR-5249-01A-01D-1512-08		21991022	111860873	28	30652											
KRT7	3855	broad.mit.edu	37	chr12	52639289	52639289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaggagctggaagccGccctgcagcggggcaagcag	10	2	18	11	2	0	0	0	0	0	0	0	3	0	3	2	5	6	5	2	5	2	0			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr12:52639289G>A	ENST00000331817.5	+	7	1261	c.1078G>A	c.(1078-1080)Gcc>Acc	p.A360T	RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	360	Coil 2.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GCTGGAAGCCGCCCTGCAGCG	0.652													5	54					0	0	0	0	A	52639289	G	A	52639289	3	1	173	1	0	0	0	0	1	0	0	0	8535	1087	38	1	1104	1	KRT7	12	52639289	Missense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08	30648267	52639289	81212606	29	30653											
HECTD1	25831	broad.mit.edu	37	chr14	31602803	31602803	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtttgtccactggcatttttCcccatctgtttaattctcac	6	18	5	12	0	2	0	1	0	2	0	5	0	4	0	3	1	0	3	3	1	1	6			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr14:31602803C>T	ENST00000399332.1	-	23	4145	c.3657G>A	c.(3655-3657)ggG>ggA	p.G1219G	HECTD1_ENST00000553700.1_Silent_p.G1219G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1219					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGGCATTTTTCCCCATCTGTT	0.403													27	101					0	0	0	0	T	31602803	C	T	31602803	2	4	173	1	0	0	0	0	0	0	0	1	7089	842	30	2		2	HECTD1	14	31602803	Silent	SNP	C	TCGA-CR-5249-01A-01D-1512-08		31602803	75746737	30	30654											
SAMD4A	23034	broad.mit.edu	37	chr14	55168922	55168922	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcctggctcactctatTgaacacaaccagcacattga	15	9	5	12	0	2	2	1	2	1	0	3	2	3	2	2	1	3	2	2	1	5	3			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr14:55168922T>C	ENST00000251091.5	+	2	644	c.339T>C	c.(337-339)atT>atC	p.I113I	SAMD4A_ENST00000554335.1_Silent_p.I113I|SAMD4A_ENST00000357634.3_Silent_p.I112I|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000392067.3_Silent_p.I113I	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	113					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CTCACTCTATTGAACACAACC	0.483													26	88					0	0	0	0	C	55168922	T	C	55168922	2	2	173	1	0	0	0	0	0	0	0	1	13906	1800	63	5		5	SAMD4A	14	55168922	Silent	SNP	T	TCGA-CR-5249-01A-01D-1512-08	23566119	55168922	52180618	31	30655											
SEL1L	6400	broad.mit.edu	37	chr14	81945956	81945956	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaggtacggaccacttacGtttgtttcccgtatgtactg	9	13	10	9	3	0	1	0	0	0	1	1	2	1	2	2	2	3	5	2	2	5	6			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr14:81945956G>T	ENST00000336735.4	-	20	2291	c.2175_splice	c.e20+1	p.N725_splice		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	725	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GACCACTTACGTTTGTTTCCC	0.458													3	125					1	1	1	0	T	81945956	G	T	81945956	5	4	173	1	0	0	0	0	0	0	1	0	14097	1159	40	3	217	3	SEL1L	14	81945956	Splice_Site	SNP	G	TCGA-CR-5249-01A-01D-1512-08	26777034	81945956	25403584	32	30656											
TMEM202	338949	broad.mit.edu	37	chr15	72691006	72691006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtagcctaccgtccctGccaagaaacatccaagtgcc	10	8	7	16	1	0	1	0	0	0	1	2	1	2	1	7	0	5	1	7	0	5	3			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr15:72691006G>A	ENST00000341689.3	+	2	148	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	32						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TACCGTCCCTGCCAAGAAACA	0.532													17	65					0	0	0	0	A	72691006	G	A	72691006	3	1	173	1	0	0	0	0	1	0	0	0	16221	1319	46	4	100	4	TMEM202	15	72691006	Missense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08		72691006	29840386	33	30657											
CACNA1H	8912	broad.mit.edu	37	chr16	1250512	1250512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgctcgggtgactccaacCcccacaacggtgccatcaac	9	5	9	18	3	1	1	1	1	0	0	3	1	2	1	5	2	4	1	5	2	3	0			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr16:1250512C>T	ENST00000348261.5	+	7	1308	c.1060C>T	c.(1060-1062)Ccc>Tcc	p.P354S	CACNA1H_ENST00000358590.4_Missense_Mutation_p.P354S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P354S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	354					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGACTCCAACCCCCACAACGG	0.652													3	67					0	0	0	0	T	1250512	C	T	1250512	3	4	173	1	0	0	0	0	1	0	0	0	2570	623	22	4	1082	4	CACNA1H	16	1250512	Missense_Mutation	SNP	C	TCGA-CR-5249-01A-01D-1512-08		1250512	89104241	34	30658											
ABCC11	85320	broad.mit.edu	37	chr16	48221269	48221269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggtccagctgttccaagtCccctgcgaagcagttcaaaa	10	9	9	13	1	1	0	1	0	0	0	4	1	4	0	4	1	3	4	4	1	4	2			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr16:48221269C>T	ENST00000394747.1	-	20	3125	c.2776G>A	c.(2776-2778)Gac>Aac	p.D926N	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.D926N|ABCC11_ENST00000353782.5_Missense_Mutation_p.D926N|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.D926N	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	926	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGTTCCAAGTCCCCTGCGAAG	0.527													21	37					0	0	0	0	T	48221269	C	T	48221269	3	4	173	1	0	0	0	0	1	0	0	0	51	855	30	2	1412	2	ABCC11	16	48221269	Missense_Mutation	SNP	C	TCGA-CR-5249-01A-01D-1512-08	46970757	48221269	42133484	35	30659											
VPS4A	27183	broad.mit.edu	37	chr16	69349972	69349972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaagaactacgaggaggCgctgcggctgtaccagcatg	11	5	14	11	3	0	1	0	0	0	1	0	3	0	2	2	3	6	4	2	3	4	2			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr16:69349972C>T	ENST00000254950.11	+	2	239	c.83C>T	c.(82-84)gCg>gTg	p.A28V	RP11-343C2.3_ENST00000570054.2_Missense_Mutation_p.A52V|VPS4A_ENST00000569775.1_3'UTR	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	28	Interaction with CHMP1B.|MIT.				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				TACGAGGAGGCGCTGCGGCTG	0.577													4	115					0	0	0	0	T	69349972	C	T	69349972	3	4	173	1	0	0	0	0	1	0	0	0	17308	768	27	1	89	1	VPS4A	16	69349972	Missense_Mutation	SNP	C	TCGA-CR-5249-01A-01D-1512-08	21128703	69349972	21004781	36	30660											
WWP2	11060	broad.mit.edu	37	chr16	69922039	69922039	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtgtgaccccgaatccCaacacgacttctctccctgc	8	10	7	16	2	1	2	0	2	1	0	4	4	3	2	4	0	2	0	4	0	2	2			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr16:69922039C>A	ENST00000359154.2	+	8	902	c.801C>A	c.(799-801)ccC>ccA	p.P267P	WWP2_ENST00000542271.1_Silent_p.P151P|WWP2_ENST00000356003.2_Silent_p.P267P|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.P267P|WWP2_ENST00000569174.1_Silent_p.P267P	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	267					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCCGAATCCCAACACGACTT	0.617													20	78					4.35082e-09	4.85526e-09	1	0	A	69922039	C	A	69922039	2	1	173	1	0	0	0	0	0	0	0	1	17512	581	21	4		4	WWP2	16	69922039	Silent	SNP	C	TCGA-CR-5249-01A-01D-1512-08	572067	69922039	20432714	37	30661											
CHST6	4166	broad.mit.edu	37	chr16	75512887	75512887	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgcacggatttctgccagCggctcccgcgccaggtcctc	5	7	12	17	5	1	0	0	0	1	0	4	1	3	1	4	3	3	2	4	3	0	1			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr16:75512887C>T	ENST00000332272.4	-	3	1019	c.840G>A	c.(838-840)ccG>ccA	p.P280P	CHST6_ENST00000390664.2_Silent_p.P280P|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	280					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTTCTGCCAGCGGCTCCCGCG	0.662													15	49					0	0	0	0	T	75512887	C	T	75512887	2	4	173	1	0	0	0	0	0	0	0	1	3437	755	27	1		1	CHST6	16	75512887	Silent	SNP	C	TCGA-CR-5249-01A-01D-1512-08	5590848	75512887	14841866	38	30662											
SLC13A5	284111	broad.mit.edu	37	chr17	6606290	6606290	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgcgaccaaggactcactCgttcatctggcccaggagca	9	7	12	13	2	3	0	2	0	1	0	4	3	3	2	2	4	2	2	2	4	1	1			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr17:6606290C>T	ENST00000433363.2	-	5	948	c.716_splice	c.e5+1	p.E239_splice	SLC13A5_ENST00000381074.4_Splice_Site_p.E196_splice|SLC13A5_ENST00000573648.1_Splice_Site_p.E239_splice|SLC13A5_ENST00000293800.6_Splice_Site_p.E222_splice	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	239						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AGGACTCACTCGTTCATCTGG	0.647													22	95					0	0	0	0	T	6606290	C	T	6606290	5	4	173	1	0	0	0	0	0	0	1	0	14483	898	31	1	1023	1	SLC13A5	17	6606290	Splice_Site	SNP	C	TCGA-CR-5249-01A-01D-1512-08		6606290	74588920	39	30663											
DLX3	1747	broad.mit.edu	37	chr17	48070809	48070809	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggccagctcggcgcgctcGggcagcgccaggtactgggc	4	4	18	15	6	0	0	0	0	0	0	2	0	0	0	2	5	3	4	2	5	1	1			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr17:48070809G>A	ENST00000434704.2	-	2	696	c.471C>T	c.(469-471)ccC>ccT	p.P157P	DLX3_ENST00000512495.2_Silent_p.P37P	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	157						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CGGCGCGCTCGGGCAGCGCCA	0.706													7	22					0	0	0	0	A	48070809	G	A	48070809	2	1	173	1	0	0	0	0	0	0	0	1	4609	1103	39	1		1	DLX3	17	48070809	Silent	SNP	G	TCGA-CR-5249-01A-01D-1512-08	41464519	48070809	33124401	40	30664											
GRIN2C	2905	broad.mit.edu	37	chr17	72840467	72840467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagttgggcaccgagtggCgcagcttccagtagaccagg	9	7	15	10	2	0	2	0	1	0	1	1	3	1	2	3	3	1	5	3	3	1	3			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr17:72840467C>T	ENST00000293190.5	-	12	2677	c.2531G>A	c.(2530-2532)cGc>cAc	p.R844H	GRIN2C_ENST00000347612.4_Missense_Mutation_p.R844H	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	844					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CACCGAGTGGCGCAGCTTCCA	0.617													4	110					0	0	0	0	T	72840467	C	T	72840467	3	4	173	1	0	0	0	0	1	0	0	0	6831	768	27	1	1178	1	GRIN2C	17	72840467	Missense_Mutation	SNP	C	TCGA-CR-5249-01A-01D-1512-08	24769658	72840467	8354743	41	30665											
GGA3	23163	broad.mit.edu	37	chr17	73239164	73239164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggacttctcctcatcatCaaaaacagggtttttgggac	10	13	8	10	0	4	0	3	0	1	0	5	2	4	2	1	3	1	1	1	3	2	4	rs35542883		TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr17:73239164C>A	ENST00000245541.6	-	6	724	c.508G>T	c.(508-510)Gat>Tat	p.D170Y	GGA3_ENST00000537686.1_Intron|GGA3_ENST00000582486.1_Missense_Mutation_p.D98Y|GGA3_ENST00000578348.1_Missense_Mutation_p.D48Y|GGA3_ENST00000582717.1_Missense_Mutation_p.D98Y|GGA3_ENST00000538886.1_Missense_Mutation_p.D48Y|GGA3_ENST00000351904.7_Missense_Mutation_p.D137Y	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	170	Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TCCTCATCATCAAAAACAGGG	0.547													5	284					1	1	1	0	A	73239164	C	A	73239164	3	1	173	1	0	0	0	0	1	0	0	0	6405	826	29	2	1799	2	GGA3	17	73239164	Missense_Mutation	SNP	C	TCGA-CR-5249-01A-01D-1512-08	398697	73239164	7956046	42	30666											
SLC26A11	284129	broad.mit.edu	37	chr17	78195395	78195395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acggcgctgggtcaggccagGtcctctggccccgggatggc	4	6	17	14	3	2	0	1	0	1	0	3	1	3	1	4	7	0	1	4	7	0	0			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr17:78195395G>T	ENST00000361193.3	+	3	316	c.36G>T	c.(34-36)agG>agT	p.R12S	SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000546047.2_Missense_Mutation_p.R12S|SLC26A11_ENST00000572725.1_Missense_Mutation_p.R12S|SLC26A11_ENST00000411502.3_Missense_Mutation_p.R12S	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	12						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTCAGGCCAGGTCCTCTGGCC	0.687													7	19					0.00621372	0.00664522	1	0	T	78195395	G	T	78195395	3	4	173	1	0	0	0	0	1	0	0	0	14604	1252	44	4	38	4	SLC26A11	17	78195395	Missense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08	4956231	78195395	2999815	43	30667											
PNPLA6	10908	broad.mit.edu	37	chr19	7605584	7605584	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagccttctcagcatcctGgatgtcatcaccgtgagtga	10	10	9	12	1	3	2	3	2	1	0	5	3	4	3	3	1	3	1	3	1	1	1			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr19:7605584G>A	ENST00000221249.6	+	9	1097	c.666G>A	c.(664-666)ctG>ctA	p.L222L	PNPLA6_ENST00000450331.3_Silent_p.L222L|PNPLA6_ENST00000545201.2_Silent_p.L222L|PNPLA6_ENST00000414982.3_Silent_p.L270L|PNPLA6_ENST00000600737.1_Silent_p.L261L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	261					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCAGCATCCTGGATGTCATCA	0.587													5	127					0	0	0	0	A	7605584	G	A	7605584	2	1	173	1	0	0	0	0	0	0	0	1	12241	1335	47	4		4	PNPLA6	19	7605584	Silent	SNP	G	TCGA-CR-5249-01A-01D-1512-08		7605584	51523399	44	30668											
ILF3	3609	broad.mit.edu	37	chr19	10793296	10793296	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggctgaggagaccgaggcGaagccagcagtggtggcccc	8	4	17	12	3	0	2	0	1	0	1	1	5	0	2	4	5	2	2	4	5	1	0			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr19:10793296G>A	ENST00000449870.1	+	13	1781	c.1464G>A	c.(1462-1464)gcG>gcA	p.A488A	ILF3_ENST00000590261.1_Silent_p.A488A|ILF3_ENST00000318511.3_Silent_p.A488A|ILF3_ENST00000250241.8_Silent_p.A488A|ILF3_ENST00000588657.1_Silent_p.A488A|ILF3_ENST00000407004.3_Silent_p.A488A|ILF3_ENST00000592763.1_Silent_p.A488A|ILF3_ENST00000420083.1_Silent_p.A488A|ILF3_ENST00000589998.1_Silent_p.A488A	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	488					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGACCGAGGCGAAGCCAGCAG	0.642													6	51					0	0	0	0	A	10793296	G	A	10793296	2	1	173	1	0	0	0	0	0	0	0	1	7765	1045	37	1		1	ILF3	19	10793296	Silent	SNP	G	TCGA-CR-5249-01A-01D-1512-08	3187712	10793296	48335687	45	30669											
QTRT1	81890	broad.mit.edu	37	chr19	10823854	10823854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgcttcccggacttcgtgCgggacttcatgggcgccatg	5	9	14	13	5	1	0	1	0	0	0	3	2	2	2	2	3	2	1	2	3	0	3			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr19:10823854C>T	ENST00000250237.5	+	10	1130	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	374					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GGACTTCGTGCGGGACTTCAT	0.657													20	97					0	0	0	0	T	10823854	C	T	10823854	3	4	173	1	0	0	0	0	1	0	0	0	12967	759	27	1	1158	1	QTRT1	19	10823854	Missense_Mutation	SNP	C	TCGA-CR-5249-01A-01D-1512-08	30558	10823854	48305129	46	30670											
CACNA1A	773	broad.mit.edu	37	chr19	13368242	13368242	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgatcaaggccacaaaGatattgacaaagaagaaggg	19	6	11	5	0	1	6	1	3	0	3	1	6	1	6	1	2	0	0	1	2	6	2			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr19:13368242G>T	ENST00000360228.5	-	28	4511	c.4512C>A	c.(4510-4512)atC>atA	p.I1504I	CACNA1A_ENST00000573710.2_Silent_p.I1505I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1505					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGGCCACAAAGATATTGACAA	0.502													14	31					2.61681e-11	2.96316e-11	1	0	T	13368242	G	T	13368242	2	4	173	1	0	0	0	0	0	0	0	1	2563	932	33	2		2	CACNA1A	19	13368242	Silent	SNP	G	TCGA-CR-5249-01A-01D-1512-08	2544388	13368242	45760741	47	30671											
ZNF569	148266	broad.mit.edu	37	chr19	37904081	37904081	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcattgcattcataGggtttctctccagaatgaat	11	14	6	10	0	3	2	2	1	1	1	5	2	4	2	2	1	1	2	2	1	3	5			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr19:37904081G>T	ENST00000316950.6	-	6	2036	c.1479C>A	c.(1477-1479)ccC>ccA	p.P493P	ZNF569_ENST00000392150.2_Silent_p.P334P|ZNF569_ENST00000392149.2_Silent_p.P493P	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCATTCATAGGGTTTCTCTC	0.353													31	92					2.65835e-16	3.05511e-16	1	0	T	37904081	G	T	37904081	2	4	173	1	0	0	0	0	0	0	0	1	18095	987	35	4		4	ZNF569	19	37904081	Silent	SNP	G	TCGA-CR-5249-01A-01D-1512-08	24535839	37904081	21224902	48	30672											
GYS1	2997	broad.mit.edu	37	chr19	49494659	49494659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacgccctgctccgtgtacGgccccaccaggaagtagttg	7	8	11	15	3	1	0	1	0	0	0	2	1	2	1	5	2	2	4	5	2	3	3			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr19:49494659G>A	ENST00000323798.3	-	2	396	c.200C>T	c.(199-201)cCg>cTg	p.P67L	GYS1_ENST00000263276.6_Missense_Mutation_p.P67L|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	67					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CTCCGTGTACGGCCCCACCAG	0.637													6	291					0	0	0	0	A	49494659	G	A	49494659	3	1	173	1	0	0	0	0	1	0	0	0	6962	1116	39	1	2073	1	GYS1	19	49494659	Missense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08	11590578	49494659	9634324	49	30673											
ZNF337	26152	broad.mit.edu	37	chr20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-																															cacacataggacttctctccTgtgtgtgtgttctggtgcaa																										TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)afs	p.T231fs	ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.51													7	184	---	---	---	---					-	25657232	TG	-	25657231	7	5	173	1	0	1	0	1	0	0	0	0	17948	1567	55	0	1566	0	ZNF337	20	25657231	Frame_Shift_Del	DEL	TG	TCGA-CR-5249-01A-01D-1512-08		25657231	37368289	50	30674											
NCOA6	23054	broad.mit.edu	37	chr20	33345055	33345055	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtaaactctgtggccccTggtttggtggttgctgctgc	4	14	14	9	0	1	0	0	0	1	0	1	1	1	0	2	4	4	5	2	4	2	3			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr20:33345055T>C	ENST00000374796.2	-	8	4066	c.1496A>G	c.(1495-1497)cAg>cGg	p.Q499R	NCOA6_ENST00000359003.2_Missense_Mutation_p.Q499R			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	499	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGTGGCCCCTGGTTTGGTGG	0.488													6	273					0	0	0	0	C	33345055	T	C	33345055	3	2	173	1	0	0	0	0	1	0	0	0	10303	1580	55	5	4731	5	NCOA6	20	33345055	Missense_Mutation	SNP	T	TCGA-CR-5249-01A-01D-1512-08	7687824	33345055	29680465	51	30675											
KCNB1	3745	broad.mit.edu	37	chr20	48098552	48098552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcgccttcccgctcccGtagggtctcggcctcacgct	2	10	9	20	5	2	0	1	0	1	0	7	0	5	0	5	2	0	3	5	2	1	2			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr20:48098552G>A	ENST00000371741.4	-	1	632	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	156					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCCGCTCCCGTAGGGTCTCG	0.582													46	117					0	0	0	0	A	48098552	G	A	48098552	3	1	173	1	0	0	0	0	1	0	0	0	8065	1144	40	1	2118	1	KCNB1	20	48098552	Missense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08	14753497	48098552	14926968	52	30676											
ZGPAT	84619	broad.mit.edu	37	chr20	62340307	62340307	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaagagggagaggaCgaggaagagctgagtgggac	14	2	22	3	1	0	4	0	1	0	3	0	12	0	9	0	6	1	1	0	6	2	0			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr20:62340307C>T	ENST00000328969.5	+	2	502	c.375C>T	c.(373-375)gaC>gaT	p.D125D	ZGPAT_ENST00000369967.3_Silent_p.D125D|ZGPAT_ENST00000357119.4_Silent_p.D125D|ZGPAT_ENST00000448100.1_Silent_p.D125D|ZGPAT_ENST00000355969.6_Silent_p.D125D|ZGPAT_ENST00000490623.1_3'UTR	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	125	Poly-Glu.				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					agggagaggacgaggaagagC	0.637													5	70					0	0	0	0	T	62340307	C	T	62340307	2	4	173	1	0	0	0	0	0	0	0	1	17769	535	19	1		1	ZGPAT	20	62340307	Silent	SNP	C	TCGA-CR-5249-01A-01D-1512-08	14241755	62340307	685213	53	30677											
ABCG1	9619	broad.mit.edu	37	chr21	43708124	43708124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgccgaggtgaacccttttCtttggcaccggccctctgaa	7	11	10	13	2	2	2	0	2	2	0	2	3	2	2	4	3	2	1	4	3	2	3			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chr21:43708124C>G	ENST00000398437.1	+	10	1685	c.1537C>G	c.(1537-1539)Ctt>Gtt	p.L513V	ABCG1_ENST00000340588.4_Missense_Mutation_p.L475V|ABCG1_ENST00000398449.3_Missense_Mutation_p.L367V|ABCG1_ENST00000398457.2_Missense_Mutation_p.L369V|ABCG1_ENST00000343687.3_Missense_Mutation_p.L378V|ABCG1_ENST00000361802.2_Missense_Mutation_p.L367V|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.L364V			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	367	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GAACCCTTTTCTTTGGCACCG	0.567													17	238					0	0	0	0	G	43708124	C	G	43708124	3	3	173	1	0	0	0	0	1	0	0	0	68	913	32	2	1301	2	ABCG1	21	43708124	Missense_Mutation	SNP	C	TCGA-CR-5249-01A-01D-1512-08		43708124	4421771	54	30678											
PDHA1	5160	broad.mit.edu	37	chrX	19369427	19369427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgtgggcctggaggccgGcatcaaccccacagaccatc	8	6	12	15	1	1	1	1	0	0	1	2	2	1	2	5	4	1	1	5	4	1	0			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chrX:19369427G>A	ENST00000379806.5	+	5	579	c.434G>A	c.(433-435)gGc>gAc	p.G145D	PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CTGGAGGCCGGCATCAACCCC	0.507													6	222					0	0	0	0	A	19369427	G	A	19369427	3	1	173	1	0	0	0	0	1	0	0	0	11735	1203	42	4	473	4	PDHA1	23	19369427	Missense_Mutation	SNP	G	TCGA-CR-5249-01A-01D-1512-08		19369427	135901133	55	30679											
PCDH11X	27328	broad.mit.edu	37	chrX	91642836	91642836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagccttaccagcacatctCatggcctgccccttggctat	7	10	8	16	0	1	0	1	0	1	0	2	0	1	0	5	2	4	3	5	2	2	3			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chrX:91642836C>G	ENST00000373094.1	+	5	4092	c.3247C>G	c.(3247-3249)Cat>Gat	p.H1083D	PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1046D|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1083D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1073D|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1073D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1046D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1083					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.H1083Y(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGCACATCTCATGGCCTGCC	0.552													38	134					0	0	0	0	G	91642836	C	G	91642836	3	3	173	1	0	0	0	0	1	0	0	0	11579	826	29	2	3387	2	PCDH11X	23	91642836	Missense_Mutation	SNP	C	TCGA-CR-5249-01A-01D-1512-08	72273409	91642836	63627724	56	30680											
WDR44	54521	broad.mit.edu	37	chrX	117532358	117532358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcttacagtaatgacgCggcacagtcagatgatgaag	12	9	10	10	2	2	4	1	3	1	1	2	4	2	4	1	1	1	2	1	1	3	3			TCGA-CR-5249-01A-01D-1512-08	TCGA-CR-5249-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42bf9ca3-47d8-45ff-bccf-bda80af58d22	25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48	g.chrX:117532358C>T	ENST00000254029.3	+	8	1594	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	WDR44_ENST00000371825.3_Missense_Mutation_p.A400V|WDR44_ENST00000371822.5_Missense_Mutation_p.A375V	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	400						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGTAATGACGCGGCACAGTCA	0.358													36	95					0	0	0	0	T	117532358	C	T	117532358	3	4	173	1	0	0	0	0	1	0	0	0	17392	768	27	1	1229	1	WDR44	23	117532358	Missense_Mutation	SNP	C	TCGA-CR-5249-01A-01D-1512-08	25889522	117532358	37738202	57	30681											
SPTBN1	6711	broad.mit.edu	37	chr2	54844759	54844759	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcaggtaccccaatgtcaAcattcacaatttcaccacta	13	10	5	13	0	3	0	3	0	0	0	3	0	3	0	3	2	2	2	3	2	5	4			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:54844759A>G	uc002rxu.2	+	6	830	c.581A>G	c.(580-582)AAC>AGC	p.N194S	SPTBN1_uc002rxv.1_Missense_Mutation_p.N194S|SPTBN1_uc002rxx.2_Missense_Mutation_p.N181S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	194	CH 2.|Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CCCAATGTCAACATTCACAAT	0.438													19	39					0	0	0	0	G	54844759	A	G	54844759	3	3	174	1	0	0	0	0	1	0	0	0	15209	43	2	5	712	5	SPTBN1	2	54844759	Missense_Mutation	SNP	A	TCGA-CR-5250-01A-01D-1512-08		54844759	188354614	1	30682											
THSD7B	80731	broad.mit.edu	37	chr2	137814582	137814582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatatacatttagccttaaGgttggaccatggagtaaatg	14	12	10	5	0	0	0	0	0	0	0	0	3	0	2	2	3	2	2	2	3	7	7			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:137814582G>T	uc002tva.1	+	2	639	c.639G>T	c.(637-639)AAG>AAT	p.K213N	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.K103N	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTAGCCTTAAGGTTGGACCAT	0.423													86	190					8.68e-40	9.78e-40	1	0	T	137814582	G	T	137814582	3	4	174	1	0	0	0	0	1	0	0	0	15974	991	35	4	645	4	THSD7B	2	137814582	Missense_Mutation	SNP	G	TCGA-CR-5250-01A-01D-1512-08	82969823	137814582	105384791	2	30683											
XIRP2	129446	broad.mit.edu	37	chr2	168106779	168106779	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaactgcaacagattttgtcGagagtgaaacagtttgaagc	14	10	11	6	1	0	4	0	2	0	2	1	6	0	4	0	0	5	2	0	0	4	3			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:168106779G>A	uc002udx.2	+	8	8895	c.8877G>A	c.(8875-8877)TCG>TCA	p.S2959S	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.S2784S|XIRP2_uc010fpq.2_Silent_p.S2737S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Silent_p.S305S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2784	Potential.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGATTTTGTCGAGAGTGAAAC	0.383													74	135					0	0	0	0	A	168106779	G	A	168106779	2	1	174	1	0	0	0	0	0	0	0	1	17526	1045	37	1		1	XIRP2	2	168106779	Silent	SNP	G	TCGA-CR-5250-01A-01D-1512-08	30292197	168106779	75092594	3	30684											
WIPF1	7456	broad.mit.edu	37	chr2	175446127	175446127	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagagcatttctcccaGcctgctctgtcttattcaag	10	12	8	11	0	4	1	1	0	3	1	5	2	4	1	2	1	3	2	2	1	3	3			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:175446127G>C	uc002uiy.2	-	4	424	c.92C>G	c.(91-93)GCT>GGT	p.A31G	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.A31G|WIPF1_uc010fqt.1_Missense_Mutation_p.A31G|WIPF1_uc002ujc.1_Missense_Mutation_p.A31G|WIPF1_uc002uiz.2_Missense_Mutation_p.A31G|WIPF1_uc002ujb.1_Missense_Mutation_p.A31G|WIPF1_uc010zep.1_Missense_Mutation_p.A31G	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	31					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						ATTTCTCCCAGCCTGCTCTGT	0.418													118	198					0	0	0	0	C	175446127	G	C	175446127	3	2	174	1	0	0	0	0	1	0	0	0	17463	971	34	4	1443	4	WIPF1	2	175446127	Missense_Mutation	SNP	G	TCGA-CR-5250-01A-01D-1512-08	7339348	175446127	67753246	4	30685											
TTN	7273	broad.mit.edu	37	chr2	179401254	179401254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggccacaacacaagaaTcttttgtgacagcagtaata	15	9	7	10	0	1	2	0	1	1	1	2	2	2	2	2	1	2	2	2	1	5	4			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:179401254T>C	uc010zfg.1	-	306	92740	c.92516A>G	c.(92515-92517)GAT>GGT	p.D30839G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D24534G|TTN_uc010zfi.1_Missense_Mutation_p.D24467G|TTN_uc010zfj.1_Missense_Mutation_p.D24342G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31766							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACACAAGAATCTTTTGTGAC	0.403													46	92					0	0	0	0	C	179401254	T	C	179401254	3	2	174	1	0	0	0	0	1	0	0	0	16831	1435	50	5	7783	5	TTN	2	179401254	Missense_Mutation	SNP	T	TCGA-CR-5250-01A-01D-1512-08	3955127	179401254	63798119	5	30686											
VGLL4	9686	broad.mit.edu	37	chr3	11600120	11600120	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagaggcggactcagggctGctggatgctccgtccttggc	5	8	16	12	3	1	1	1	0	0	1	3	4	3	3	2	5	2	3	2	5	0	1			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr3:11600120G>A	uc003bwf.2	-	6	1149	c.783C>T	c.(781-783)AGC>AGT	p.S261S	VGLL4_uc010hdx.1_Silent_p.S267S|VGLL4_uc003bwg.2_Silent_p.S266S|VGLL4_uc010hdv.1_Silent_p.S177S|VGLL4_uc010hdw.1_Silent_p.S181S|VGLL4_uc011aun.1_Silent_p.S202S	NM_014667	NP_055482	Q14135	VGLL4_HUMAN	vestigial like 4 isoform b	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ACTCAGGGCTGCTGGATGCTC	0.657													33	64					0	0	0	0	A	11600120	G	A	11600120	2	1	174	1	0	0	0	0	0	0	0	1	17257	1310	46	4		4	VGLL4	3	11600120	Silent	SNP	G	TCGA-CR-5250-01A-01D-1512-08		11600120	186422310	6	30687											
ALS2CL	259173	broad.mit.edu	37	chr3	46725326	46725326	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcttcgggcgtgaggagGtgaaacgtgcacctagacag	9	9	14	9	3	2	3	0	2	2	1	3	4	2	4	1	3	2	1	1	3	2	3			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr3:46725326G>C	uc003cqa.1	-	9	1048	c.858C>G	c.(856-858)CAC>CAG	p.H286Q	ALS2CL_uc003cpz.1_5'Flank|ALS2CL_uc003cqb.1_Missense_Mutation_p.H286Q|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	286					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCGTGAGGAGGTGAAACGTGC	0.617													65	62					0	0	0	0	C	46725326	G	C	46725326	3	2	174	1	0	0	0	0	1	0	0	0	551	1252	44	4	2075	4	ALS2CL	3	46725326	Missense_Mutation	SNP	G	TCGA-CR-5250-01A-01D-1512-08	35125206	46725326	151297104	7	30688											
PDE12	201626	broad.mit.edu	37	chr3	57543283	57543283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaaagtctaagttcagcCttcttagccagcatgacatt	12	11	7	11	1	3	1	1	1	2	0	3	2	3	1	3	0	3	2	3	0	3	5			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr3:57543283C>T	uc003diw.3	+	1	1303	c.1177C>T	c.(1177-1179)CTT>TTT	p.L393F	PDE12_uc003div.2_Missense_Mutation_p.L393F	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	393							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TAAGTTCAGCCTTCTTAGCCA	0.532													34	21					0	0	0	0	T	57543283	C	T	57543283	3	4	174	1	0	0	0	0	1	0	0	0	11703	681	24	4	1179	4	PDE12	3	57543283	Missense_Mutation	SNP	C	TCGA-CR-5250-01A-01D-1512-08	10817957	57543283	140479147	8	30689											
TRA2B	6434	broad.mit.edu	37	chr3	185655648	185655648	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcgccgctgtcgctcaTgactcctggctgctgtcgcc	2	11	11	17	4	1	1	1	1	0	0	5	1	2	1	3	1	2	5	3	1	0	0			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr3:185655648T>C	uc003fpv.2	-	1	277	c.1A>G	c.(1-3)ATG>GTG	p.M1V	TRA2B_uc003fpu.2_5'Flank|TRA2B_uc010hym.2_5'UTR|TRA2B_uc003fpw.2_Missense_Mutation_p.M1V|TRA2B_uc003fpx.2_RNA	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	1					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						CTGTCGCTCATGACTCCTGGC	0.632													26	37					0	0	0	0	C	185655648	T	C	185655648	3	2	174	1	0	0	0	0	1	0	0	0	16529	1464	51	5	901	5	TRA2B	3	185655648	Missense_Mutation	SNP	T	TCGA-CR-5250-01A-01D-1512-08	128112365	185655648	12366782	9	30690											
ACOX3	8310	broad.mit.edu	37	chr4	8376858	8376858	+	Frame_Shift_Del	DEL	C	C	-																															gagctccacgaaggccagcgCcaacggacggccgtgggaca																										TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr4:8376858delC	uc010idk.2	-	15	1820	c.1675delG	c.(1675-1677)GCGfs	p.A559fs	ACOX3_uc003glc.3_Frame_Shift_Del_p.A559fs|ACOX3_uc003gld.3_Frame_Shift_Del_p.A559fs|ACOX3_uc003gle.1_Frame_Shift_Del_p.A464fs	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	559					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						AAGGCCAGCGCCAACGGACGG	0.697													2	4	---	---	---	---					-	8376858	C	-	8376858	7	5	174	1	0	1	0	1	0	0	0	0	160	739	26	0	443	0	ACOX3	4	8376858	Frame_Shift_Del	DEL	C	TCGA-CR-5250-01A-01D-1512-08		8376858	182777418	10	30691											
UGT2B11	10720	broad.mit.edu	37	chr4	70079789	70079789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccaaaagtcaaaataaaGcacatagatcatatttttta	20	11	4	6	0	2	1	2	0	0	1	2	2	2	1	1	0	2	1	1	0	10	6			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr4:70079789G>T	uc003heh.2	-	1	661	c.652C>A	c.(652-654)CTT>ATT	p.L218I	uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	218					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						TCAAAATAAAGCACATAGATC	0.338													31	96					4.66e-17	5.03e-17	1	0	T	70079789	G	T	70079789	3	4	174	1	0	0	0	0	1	0	0	0	17053	971	34	4	961	4	UGT2B11	4	70079789	Missense_Mutation	SNP	G	TCGA-CR-5250-01A-01D-1512-08	61702931	70079789	121074487	11	30692											
ODZ2	57451	broad.mit.edu	37	chr5	167645514	167645514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatgatgcctacgcgactGatgccatcttgaattcccca	10	10	9	12	2	1	4	0	3	1	1	2	6	2	4	4	0	3	0	4	0	2	3			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr5:167645514G>C	uc010jjd.2	+	23	4591	c.4591G>C	c.(4591-4593)GAT>CAT	p.D1531H	ODZ2_uc003lzr.3_Missense_Mutation_p.D1301H|ODZ2_uc003lzt.3_Missense_Mutation_p.D904H|ODZ2_uc010jje.2_Missense_Mutation_p.D795H	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CTACGCGACTGATGCCATCTT	0.498													86	212					0	0	0	0	C	167645514	G	C	167645514	3	2	174	1	0	0	0	0	1	0	0	0	10906	1290	45	2	4681	2	ODZ2	5	167645514	Missense_Mutation	SNP	G	TCGA-CR-5250-01A-01D-1512-08		167645514	13269746	12	30693											
RASGEF1C	255426	broad.mit.edu	37	chr5	179545821	179545821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttggccgtcctcactttgGcccaggtcttcttcagcctg	4	13	9	15	1	4	0	2	0	2	0	5	0	5	0	4	3	1	0	4	3	0	4			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr5:179545821G>T	uc003mlq.2	-	8	1250	c.953C>A	c.(952-954)GCC>GAC	p.A318D	RASGEF1C_uc003mlr.2_Missense_Mutation_p.A318D|RASGEF1C_uc003mlp.3_Missense_Mutation_p.A167D	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	318	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCACTTTGGCCCAGGTCTT	0.627													52	87					3.17e-08	3.32e-08	1	0	T	179545821	G	T	179545821	3	4	174	1	0	0	0	0	1	0	0	0	13153	1203	42	4	471	4	RASGEF1C	5	179545821	Missense_Mutation	SNP	G	TCGA-CR-5250-01A-01D-1512-08	11900307	179545821	1369439	13	30694											
KCNK16	83795	broad.mit.edu	37	chr6	39284101	39284101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagccagagctggcagcatCtgtgcagaagcagggggccc	9	4	16	12	0	1	2	0	0	1	2	1	2	1	2	2	3	5	6	2	3	1	0			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr6:39284101C>T	uc003ooq.2	-	5	793	c.779G>A	c.(778-780)AGA>AAA	p.R260K	KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_Intron|KCNK16_uc010jwy.2_Intron|KCNK16_uc011dtz.1_Missense_Mutation_p.R260K	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	260	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(1)	3						CTGGCAGCATCTGTGCAGAAG	0.637													10	20					0	0	0	0	T	39284101	C	T	39284101	3	4	174	1	0	0	0	0	1	0	0	0	8116	913	32	2	543	2	KCNK16	6	39284101	Missense_Mutation	SNP	C	TCGA-CR-5250-01A-01D-1512-08		39284101	131830966	14	30695											
RAC1	5879	broad.mit.edu	37	chr7	6426860	6426860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagctgtaggtaaaacttGcctactgatcagttacacaa	14	11	8	8	0	1	2	1	1	0	1	1	2	1	2	1	1	5	4	1	1	7	6			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr7:6426860G>T	uc003spx.2	+	2	294	c.53G>T	c.(52-54)TGC>TTC	p.C18F	RAC1_uc003spw.2_Missense_Mutation_p.C18F	NM_006908	NP_008839	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1	18					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			lung(2)	2		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GGTAAAACTTGCCTACTGATC	0.338													38	115					1.16e-17	1.26e-17	1	0	T	6426860	G	T	6426860	3	4	174	1	0	0	0	0	1	0	0	0	13056	1319	46	4	59	4	RAC1	7	6426860	Missense_Mutation	SNP	G	TCGA-CR-5250-01A-01D-1512-08		6426860	152711803	15	30696											
DBNL	28988	broad.mit.edu	37	chr7	44098509	44098509	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccctccaggagtctgcCgtgcacccgagggagatttt	6	10	12	13	2	1	1	0	0	1	1	3	4	3	2	4	2	2	2	4	2	0	3	rs148365536	byFrequency	TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr7:44098509C>T	uc003tjp.3	+	9	860	c.762C>T	c.(760-762)GCC>GCT	p.A254A	DBNL_uc003tjn.2_Silent_p.A126A|DBNL_uc003tjo.3_Silent_p.A255A|DBNL_uc003tjr.3_Silent_p.A127A|DBNL_uc003tjq.3_Silent_p.A263A|DBNL_uc011kbm.1_Silent_p.A230A|DBNL_uc011kbn.1_Silent_p.A151A|DBNL_uc011kbo.1_Silent_p.A155A|DBNL_uc011kbp.1_Silent_p.A206A|DBNL_uc011kbq.1_Silent_p.A179A|DBNL_uc011kbr.1_Silent_p.A203A|DBNL_uc011kbs.1_Silent_p.A159A	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	254					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			skin(1)	1						AGGAGTCTGCCGTGCACCCGA	0.612													29	49					0	0	0	0	T	44098509	C	T	44098509	2	4	174	1	0	0	0	0	0	0	0	1	4288	639	23	1		1	DBNL	7	44098509	Silent	SNP	C	TCGA-CR-5250-01A-01D-1512-08	37671649	44098509	115040154	16	30697											
COL1A2	1278	broad.mit.edu	37	chr7	94057678	94057678	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgtgatttctctactggCgaaacctgtatccgggccca	8	12	9	12	2	1	1	0	1	1	0	3	2	2	1	3	2	3	1	3	2	4	4			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr7:94057678C>T	uc003ung.1	+	50	4071	c.3600C>T	c.(3598-3600)GGC>GGT	p.G1200G	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1200	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTCTACTGGCGAAACCTGTA	0.428										HNSCC(75;0.22)			65	152					0	0	0	0	T	94057678	C	T	94057678	2	4	174	1	0	0	0	0	0	0	0	1	3708	755	27	1		1	COL1A2	7	94057678	Silent	SNP	C	TCGA-CR-5250-01A-01D-1512-08	49959169	94057678	65080985	17	30698											
CSMD3	114788	broad.mit.edu	37	chr8	113332168	113332168	+	Frame_Shift_Del	DEL	T	T	-																															cttccgtcaaaatttcagcaTtgggcacaggtggtggaggt																										TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr8:113332168delT	uc003ynu.2	-	46	7367	c.7208delA	c.(7207-7209)AATfs	p.N2403fs	CSMD3_uc003yns.2_Frame_Shift_Del_p.N1605fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.N2363fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.N2299fs|CSMD3_uc003ynw.1_Frame_Shift_Del_p.N114fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2403	Extracellular (Potential).|Sushi 13.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AATTTCAGCATTGGGCACAGG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			53	155	---	---	---	---					-	113332168	T	-	113332168	7	5	174	1	0	1	0	1	0	0	0	0	3978	1493	52	0	4019	0	CSMD3	8	113332168	Frame_Shift_Del	DEL	T	TCGA-CR-5250-01A-01D-1512-08		113332168	33031854	18	30699											
ZFAND5	7763	broad.mit.edu	37	chr9	74975552	74975552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaataacttacccattgggCtcattctgccactattttgc	10	14	6	11	0	2	0	1	0	1	0	2	1	2	0	2	1	4	1	2	1	4	7			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr9:74975552C>T	uc004aiv.2	-	2	421	c.143G>A	c.(142-144)AGC>AAC	p.S48N	ZFAND5_uc010mox.1_5'Flank|ZFAND5_uc010moy.1_Missense_Mutation_p.S48N|ZFAND5_uc004aix.2_Missense_Mutation_p.S48N|ZFAND5_uc004aiw.2_Missense_Mutation_p.S48N|ZFAND5_uc004aiy.2_Missense_Mutation_p.S48N	NM_006007	NP_005998	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	48							DNA binding|zinc ion binding				0						ACCCATTGGGCTCATTCTGCC	0.413													117	244					0	0	0	0	T	74975552	C	T	74975552	3	4	174	1	0	0	0	0	1	0	0	0	17725	797	28	4	518	4	ZFAND5	9	74975552	Missense_Mutation	SNP	C	TCGA-CR-5250-01A-01D-1512-08		74975552	66237879	19	30700											
SH2D3C	10044	broad.mit.edu	37	chr9	130504111	130504111	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgccgcgaagctgaacaTgttgcccatagtcccccgca	9	6	10	16	4	0	1	0	1	0	0	1	3	1	1	5	0	3	3	5	0	3	2			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr9:130504111T>C	uc004bsc.2	-	9	2186	c.2044A>G	c.(2044-2046)ATG>GTG	p.M682V	SH2D3C_uc010mxo.2_Missense_Mutation_p.M522V|SH2D3C_uc004bry.2_Missense_Mutation_p.M524V|SH2D3C_uc004brz.3_Missense_Mutation_p.M328V|SH2D3C_uc011mak.1_Missense_Mutation_p.M328V|SH2D3C_uc004bsa.2_Missense_Mutation_p.M525V|SH2D3C_uc004bsb.2_Missense_Mutation_p.M614V	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	682	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						AAGCTGAACATGTTGCCCATA	0.672													14	36					0	0	0	0	C	130504111	T	C	130504111	3	2	174	1	0	0	0	0	1	0	0	0	14321	1464	51	5	554	5	SH2D3C	9	130504111	Missense_Mutation	SNP	T	TCGA-CR-5250-01A-01D-1512-08	55528559	130504111	10709320	20	30701											
PTGES2	80142	broad.mit.edu	37	chr9	130886072	130886072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaactcggtcacctccttgcCctgctcgttcacagccttca	6	11	7	17	2	3	0	3	0	0	0	6	1	4	0	4	1	4	2	4	1	1	3			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr9:130886072C>T	uc004bti.2	-	4	1073	c.595G>A	c.(595-597)GGC>AGC	p.G199S	PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Missense_Mutation_p.G8S|PTGES2_uc004btl.2_Missense_Mutation_p.G8S|PTGES2_uc004btm.2_RNA	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	199	Cytoplasmic (Potential).				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity				0						ACCTCCTTGCCCTGCTCGTTC	0.577													24	70					0	0	0	0	T	130886072	C	T	130886072	3	4	174	1	0	0	0	0	1	0	0	0	12827	623	22	4	554	4	PTGES2	9	130886072	Missense_Mutation	SNP	C	TCGA-CR-5250-01A-01D-1512-08	381961	130886072	10327359	21	30702											
IPO7	10527	broad.mit.edu	37	chr11	9466668	9466668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caaaatgattgagaagcatgGaggatacaaattcagtgctc	16	9	10	6	0	1	2	1	2	0	1	2	5	1	4	0	2	3	2	0	2	5	3			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr11:9466668G>C	uc001mho.2	+	25	3186	c.3044G>C	c.(3043-3045)GGA>GCA	p.G1015A		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	1015					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GAGAAGCATGGAGGATACAAA	0.378													11	135					0	0	0	0	C	9466668	G	C	9466668	3	2	174	1	0	0	0	0	1	0	0	0	7850	1174	41	2	3142	2	IPO7	11	9466668	Missense_Mutation	SNP	G	TCGA-CR-5250-01A-01D-1512-08		9466668	125539848	22	30703											
CKAP5	9793	broad.mit.edu	37	chr11	46810308	46810308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcatggcatttcagttcggtCcattagctcaacagccttga	9	12	9	11	1	2	1	2	1	0	0	4	1	3	1	2	2	3	4	2	2	2	4			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr11:46810308C>T	uc001ndi.1	-	16	2001	c.1891G>A	c.(1891-1893)GAC>AAC	p.D631N	CKAP5_uc009ylg.1_Missense_Mutation_p.D517N|CKAP5_uc001ndj.1_Missense_Mutation_p.D631N	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	631					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						TCAGTTCGGTCCATTAGCTCA	0.308													41	75					0	0	0	0	T	46810308	C	T	46810308	3	4	174	1	0	0	0	0	1	0	0	0	3475	855	30	2	4323	2	CKAP5	11	46810308	Missense_Mutation	SNP	C	TCGA-CR-5250-01A-01D-1512-08	37343640	46810308	88196208	23	30704											
USP35	57558	broad.mit.edu	37	chr11	77921098	77921098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctgagcaggaaaaggaaGaagacagcctgggagcgggg	14	2	19	6	1	0	3	0	1	0	2	0	6	0	6	1	6	3	2	1	6	4	0			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr11:77921098G>A	uc009yva.1	+	10	2443	c.2197G>A	c.(2197-2199)GAA>AAA	p.E733K	USP35_uc001oze.2_Missense_Mutation_p.E489K|USP35_uc001ozc.2_Missense_Mutation_p.E301K|USP35_uc010rsp.1_Missense_Mutation_p.E165K|USP35_uc001ozd.2_Missense_Mutation_p.E344K|USP35_uc001ozf.2_Missense_Mutation_p.E464K	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	733					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ggaaaaggaagaagaCAGCCT	0.333													30	60					0	0	0	0	A	77921098	G	A	77921098	3	1	174	1	0	0	0	0	1	0	0	0	17162	943	33	2	2231	2	USP35	11	77921098	Missense_Mutation	SNP	G	TCGA-CR-5250-01A-01D-1512-08	31110790	77921098	57085418	24	30705											
GALNT6	11226	broad.mit.edu	37	chr12	51751183	51751183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgatgaggggcttcccccCgcggttgttctcacccacat	6	10	10	15	2	1	2	1	2	1	0	3	2	2	2	4	3	0	3	4	3	0	3	rs142431103		TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr12:51751183C>T	uc001ryk.2	-	9	1777	c.1552G>A	c.(1552-1554)GGG>AGG	p.G518R	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.G518R|GALNT6_uc001ryj.1_Missense_Mutation_p.G83R	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	518	Ricin B-type lectin.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						GGCTTCCCCCCGCGGTTGTTC	0.612													21	57					0	0	0	0	T	51751183	C	T	51751183	3	4	174	1	0	0	0	0	1	0	0	0	6266	652	23	1	328	1	GALNT6	12	51751183	Missense_Mutation	SNP	C	TCGA-CR-5250-01A-01D-1512-08		51751183	82100712	25	30706											
STAB2	55576	broad.mit.edu	37	chr12	104107482	104107482	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgactgtaagagaacCaccccaggaaggcgagtgtg	13	5	14	9	1	0	2	0	1	0	1	0	5	0	3	3	3	1	2	3	3	4	1			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr12:104107482C>A	uc001tjw.2	+	42	4659	c.4473C>A	c.(4471-4473)ACC>ACA	p.T1491T	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1491	Extracellular (Potential).|EGF-like 12.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						GTAAGAGAACCACCCCAGGAA	0.542													100	273					8.45e-40	9.6e-40	1	0	A	104107482	C	A	104107482	2	1	174	1	0	0	0	0	0	0	0	1	15328	581	21	4		4	STAB2	12	104107482	Silent	SNP	C	TCGA-CR-5250-01A-01D-1512-08	52356299	104107482	29744413	26	30707											
CIT	11113	broad.mit.edu	37	chr12	120148383	120148383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcagttcatgtctagacGgtcatcaccttccagtttca	8	13	8	12	2	5	1	4	0	1	1	6	1	6	1	2	1	1	3	2	1	1	4			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr12:120148383G>T	uc001txi.1	-	37	4824	c.4771C>A	c.(4771-4773)CGT>AGT	p.R1591S	CIT_uc001txh.1_Missense_Mutation_p.R1110S|CIT_uc001txj.1_Missense_Mutation_p.R1633S	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1591	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATGTCTAGACGGTCATCACCT	0.483													46	118					1.23e-26	1.36e-26	1	0	T	120148383	G	T	120148383	3	4	174	1	0	0	0	0	1	0	0	0	3468	1116	39	3	1356	3	CIT	12	120148383	Missense_Mutation	SNP	G	TCGA-CR-5250-01A-01D-1512-08	16040901	120148383	13703512	27	30708											
FNDC3A	22862	broad.mit.edu	37	chr13	49772367	49772367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggaaaggttacaagctatAttatcaacaatttgcaacca	16	11	7	7	0	1	0	1	0	0	0	1	1	1	1	1	2	5	3	1	2	9	5			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr13:49772367A>G	uc001vcm.2	+	22	3045	c.2740A>G	c.(2740-2742)ATT>GTT	p.I914V	FNDC3A_uc001vcn.2_Missense_Mutation_p.I914V|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.I858V	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	914	Fibronectin type-III 7.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TACAAGCTATATTATCAACAA	0.363													58	102					0	0	0	0	G	49772367	A	G	49772367	3	3	174	1	0	0	0	0	1	0	0	0	6014	449	16	5	2833	5	FNDC3A	13	49772367	Missense_Mutation	SNP	A	TCGA-CR-5250-01A-01D-1512-08		49772367	65397511	28	30709											
DLST	1743	broad.mit.edu	37	chr14	75361079	75361079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcccagaatacatgtgCaatgctgacaacttttaatg	13	10	10	8	0	0	2	0	1	0	1	0	3	0	3	1	2	4	2	1	2	5	3			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr14:75361079C>T	uc001xqv.2	+	10	800	c.737C>T	c.(736-738)GCA>GTA	p.A246V	DLST_uc001xqu.2_Missense_Mutation_p.A158V|DLST_uc001xqt.2_Missense_Mutation_p.A162V|DLST_uc010tuw.1_Missense_Mutation_p.A160V|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.A246V	NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	246					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)		AATACATGTGCAATGCTGACA	0.468													79	65					0	0	0	0	T	75361079	C	T	75361079	3	4	174	1	0	0	0	0	1	0	0	0	4606	710	25	4	775	4	DLST	14	75361079	Missense_Mutation	SNP	C	TCGA-CR-5250-01A-01D-1512-08		75361079	31988461	29	30710											
TRAF3	7187	broad.mit.edu	37	chr14	103352585	103352585	+	Frame_Shift_Del	DEL	C	C	-																															tgccctcacaagtgcagcgtCcagactctcctgaggagcga																										TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr14:103352585delC	uc001ymc.1	+	7	983	c.630delC	c.(628-630)GTCfs	p.V210fs	TRAF3_uc001yme.1_Frame_Shift_Del_p.V210fs|TRAF3_uc001ymd.1_Frame_Shift_Del_p.V210fs|TRAF3_uc010txy.1_Intron	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3 isoform 1	210	TRAF-type 2.				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGTGCAGCGTCCAGACTCTCC	0.498													26	10	---	---	---	---					-	103352585	C	-	103352585	7	5	174	1	0	1	0	1	0	0	0	0	16534	842	30	0	648	0	TRAF3	14	103352585	Frame_Shift_Del	DEL	C	TCGA-CR-5250-01A-01D-1512-08	27991506	103352585	3996955	30	30711											
APBA2	321	broad.mit.edu	37	chr15	29346705	29346705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccaacgggaacaccggCgcctccccctaccgcctgag	8	3	12	18	4	0	1	0	1	0	0	1	3	1	2	7	3	3	0	7	3	3	1	rs111870710	byFrequency	TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr15:29346705C>T	uc001zck.2	+	3	825	c.618C>T	c.(616-618)GGC>GGT	p.G206G	APBA2_uc010azj.2_Silent_p.G206G|APBA2_uc010uat.1_Silent_p.G206G|APBA2_uc001zcl.2_Silent_p.G206G|APBA2_uc010uas.1_Silent_p.G206G	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	206	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGAACACCGGCGCCTCCCCCT	0.607													17	26					0	0	0	0	T	29346705	C	T	29346705	2	4	174	1	0	0	0	0	0	0	0	1	758	755	27	1		1	APBA2	15	29346705	Silent	SNP	C	TCGA-CR-5250-01A-01D-1512-08		29346705	73184687	31	30712											
MAP2K1	5604	broad.mit.edu	37	chr15	66729094	66729099	+	In_Frame_Del	DEL	TGGAGA	TGGAGA	-																															ctttctccagctaattcatcTggagatcaaacccgcaatcc																										TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr15:66729094_66729099delTGGAGA	uc010bhq.2	+	3	777_782	c.302_307delTGGAGA	c.(301-309)CTGGAGATC>CTC	p.EI102del	MAP2K1_uc010ujp.1_In_Frame_Del_p.EI80del	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	102_103	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						CTAATTCATCTGGAGATCAAACCCGC	0.447									Cardiofaciocutaneous_syndrome				36	60	---	---	---	---					-	66729099	TGGAGA	-	66729094	7	5	174	1	0	1	0	1	0	0	0	0	9305	1580	55	0	312	0	MAP2K1	15	66729094	In_Frame_Del	DEL	TGGAGA	TCGA-CR-5250-01A-01D-1512-08	37382389	66729094	35802298	32	30713											
CLN6	54982	broad.mit.edu	37	chr15	68504043	68504043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgagattcttgatgatGgggttctcacggacagacag	9	11	14	7	1	2	4	1	3	2	2	3	6	2	5	0	4	0	2	0	4	0	4			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr15:68504043G>A	uc002arf.2	-	4	614	c.456C>T	c.(454-456)CCC>CCT	p.P152P	CLN6_uc010ujy.1_Intron|CLN6_uc010ujz.1_Silent_p.P184P	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	CLN6 protein	152					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity				0						TCTTGATGATGGGGTTCTCAC	0.582													61	154					0	0	0	0	A	68504043	G	A	68504043	2	1	174	1	0	0	0	0	0	0	0	1	3575	1335	47	4		4	CLN6	15	68504043	Silent	SNP	G	TCGA-CR-5250-01A-01D-1512-08	1774949	68504043	34027349	33	30714											
MYO1C	4641	broad.mit.edu	37	chr17	1374583	1374583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacagccaccccatcctgcGgccgtcctgcccacgtgggc	5	5	11	20	3	0	0	0	0	0	0	2	0	2	0	7	2	3	1	7	2	0	0			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr17:1374583G>A	uc002fsp.2	-	20	2289	c.2069C>T	c.(2068-2070)CCG>CTG	p.P690L	MYO1C_uc002fsn.2_Missense_Mutation_p.P671L|MYO1C_uc002fso.2_Missense_Mutation_p.P655L|MYO1C_uc010vqj.1_Missense_Mutation_p.P655L|MYO1C_uc010vqk.1_Missense_Mutation_p.P666L	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	690	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCATCCTGCGGCCGTCCTGC	0.667													22	37					0	0	0	0	A	1374583	G	A	1374583	3	1	174	1	0	0	0	0	1	0	0	0	10140	1116	39	1	1174	1	MYO1C	17	1374583	Missense_Mutation	SNP	G	TCGA-CR-5250-01A-01D-1512-08		1374583	79820627	34	30715											
NCR1	9437	broad.mit.edu	37	chr19	55418074	55418074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattctacatcccggacatGaactcccgcatggcagggca	12	7	9	13	2	1	1	0	1	1	0	3	2	3	2	2	3	2	3	2	3	3	2			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr19:55418074G>A	uc002qib.2	+	3	302	c.264G>A	c.(262-264)ATG>ATA	p.M88I	NCR1_uc002qic.2_Missense_Mutation_p.M88I|NCR1_uc002qie.2_Missense_Mutation_p.M88I|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	NM_004829	NP_004820	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	88	Ig-like 1.|Extracellular (Potential).				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0449)		TCCCGGACATGAACTCCCGCA	0.517													39	74					0	0	0	0	A	55418074	G	A	55418074	3	1	174	1	0	0	0	0	1	0	0	0	10307	1290	45	2	274	2	NCR1	19	55418074	Missense_Mutation	SNP	G	TCGA-CR-5250-01A-01D-1512-08		55418074	3710909	35	30716											
MC3R	4159	broad.mit.edu	37	chr20	54824431	54824431	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgcggcgtctgtggcgtgGtgttcatcgtctactcggag	3	12	16	10	5	3	0	1	0	2	0	5	1	3	1	0	4	2	2	0	4	1	2			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr20:54824431G>C	uc002xxb.2	+	1	644	c.532G>C	c.(532-534)GTG>CTG	p.V178L		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	215	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			CTGTGGCGTGGTGTTCATCGT	0.557													55	121					0	0	0	0	C	54824431	G	C	54824431	3	2	174	1	0	0	0	0	1	0	0	0	9434	1261	44	4	534	4	MC3R	20	54824431	Missense_Mutation	SNP	G	TCGA-CR-5250-01A-01D-1512-08		54824431	8201089	36	30717											
COL6A2	1292	broad.mit.edu	37	chr21	47545929	47545929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggtcatcacggacgggCgccacgaccctcgggacgat	7	5	15	14	7	2	0	2	0	0	0	3	4	2	2	2	5	0	0	2	5	0	0			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr21:47545929C>T	uc002zia.1	+	26	2282	c.2200C>T	c.(2200-2202)CGC>TGC	p.R734C	COL6A2_uc002zhy.1_Missense_Mutation_p.R734C|COL6A2_uc002zhz.1_Missense_Mutation_p.R734C|COL6A2_uc002zib.1_Missense_Mutation_p.R140C|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	734	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CACGGACGGGCGCCACGACCC	0.637													47	96					0	0	0	0	T	47545929	C	T	47545929	3	4	174	1	0	0	0	0	1	0	0	0	3730	768	27	1	2298	1	COL6A2	21	47545929	Missense_Mutation	SNP	C	TCGA-CR-5250-01A-01D-1512-08		47545929	583966	37	30718											
IL3RA	3563	broad.mit.edu	37	chrX	1471026	1471026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaggtgcggagaatctgaCctgctggattcatgacgtgg	8	9	16	8	2	2	3	1	2	1	1	2	5	2	4	1	5	2	2	1	5	1	1			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chrX:1471026C>T	uc004cps.2	+	5	681	c.332C>T	c.(331-333)ACC>ATC	p.T111I	IL3RA_uc011mhd.1_Missense_Mutation_p.T33I	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	111	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GAGAATCTGACCTGCTGGATT	0.493													25	37					0	0	0	0	T	1471026	C	T	1471026	3	4	174	1	0	0	0	0	1	0	0	0	7748	507	18	4	346	4	IL3RA	23	1471026	Missense_Mutation	SNP	C	TCGA-CR-5250-01A-01D-1512-08		1471026	153799534	38	30719											
ZNF449	203523	broad.mit.edu	37	chrX	134494851	134494851	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttaaatgtaattattgtggGaaaagttttagacagagacc	15	14	9	3	0	0	2	0	0	0	2	0	4	0	3	1	1	0	2	1	1	7	7			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chrX:134494851G>A	uc004eys.2	+	5	1572	c.1407G>A	c.(1405-1407)GGG>GGA	p.G469G	ZNF449_uc004eyt.2_Silent_p.G349G|ZNF449_uc004eyu.2_Silent_p.G275G	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	469	C2H2-type 6.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					ATTATTGTGGGAAAAGTTTTA	0.388													91	54					0	0	0	0	A	134494851	G	A	134494851	2	1	174	1	0	0	0	0	0	0	0	1	18015	1161	41	2		2	ZNF449	23	134494851	Silent	SNP	G	TCGA-CR-5250-01A-01D-1512-08	133023825	134494851	20775709	39	30720											
USP9Y	8287	broad.mit.edu	37	chrY	14885611	14885611	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atgcagtttatctttgtgatCgtgaagcctgttttaagtgg	8	17	11	5	1	1	2	0	2	1	0	2	2	1	2	1	1	2	3	1	1	3	5			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chrY:14885611C>G	uc004fst.1	+	17	3028	c.2083C>G	c.(2083-2085)CGT>GGT	p.R695G	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	695					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						TCTTTGTGATCGTGAAGCCTG	0.398													76	36					0	0	0	0	G	14885611	C	G	14885611	3	3	174	1	0	0	0	0	1	0	0	0	17187	884	31	3	2141	3	USP9Y	24	14885611	Missense_Mutation	SNP	C	TCGA-CR-5250-01A-01D-1512-08		14885611	44487955	40	30721											
KLHL17	339451	broad.mit.edu	37	chr1	898584	898584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccatgtccacgcgccggGcccgggtgggagtggctgcg	3	6	17	15	5	0	0	0	0	0	0	2	1	2	1	5	4	1	1	5	4	0	0			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr1:898584G>T	ENST00000338591.3	+	7	1245	c.1138G>T	c.(1138-1140)Gcc>Tcc	p.A380S		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	380	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACGCGCCGGGCCCGGGTGGG	0.716													4	13					0.00024832	0.000261564	1	0	T	898584	G	T	898584	3	4	175	1	0	0	0	0	1	0	0	0	8424	1203	42	4	1164	4	KLHL17	1	898584	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08		898584	248352037	1	30722											
WDTC1	23038	broad.mit.edu	37	chr1	27632707	27632707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacaggccgagtcgtggaaGatatggagggtgcttcacag	10	8	15	8	2	2	1	2	0	0	1	3	4	2	3	1	4	1	1	1	4	2	2			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr1:27632707G>A	ENST00000319394.3	+	16	2402	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	WDTC1_ENST00000361771.3_Missense_Mutation_p.D622N	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	623							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		AGTCGTGGAAGATATGGAGGG	0.607													19	36					0	0	0	0	A	27632707	G	A	27632707	3	1	175	1	0	0	0	0	1	0	0	0	17438	942	33	2	1922	2	WDTC1	1	27632707	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08	26734123	27632707	221617914	2	30723											
MTF1	4520	broad.mit.edu	37	chr1	38323083	38323083	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgcttcatgatctatcAggtgaaagccctcttcaccc	10	12	6	13	0	5	2	3	2	2	0	5	2	5	2	2	1	2	1	2	1	2	4			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr1:38323083A>G	ENST00000373036.4	-	2	388	c.248T>C	c.(247-249)cTg>cCg	p.L83P	MTF1_ENST00000468190.1_5'UTR	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	83						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATGATCTATCAGGTGAAAGCC	0.483													3	80					0	0	0	0	G	38323083	A	G	38323083	3	3	175	1	0	0	0	0	1	0	0	0	9992	188	7	5	2053	5	MTF1	1	38323083	Missense_Mutation	SNP	A	TCGA-CR-6467-01A-11D-1870-08	10690376	38323083	210927538	3	30724											
KPRP	448834	broad.mit.edu	37	chr1	152732235	152732235	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcatgcccagttcaagtttgCcaggtgtcagaccaggctcc	8	10	10	13	0	3	1	3	0	0	1	4	1	4	1	4	2	2	3	4	2	1	2			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr1:152732235C>T	ENST00000368773.1	+	2	229	c.171C>T	c.(169-171)tgC>tgT	p.C57C	KPRP_ENST00000606109.1_Silent_p.C57C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	57	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCAAGTTTGCCAGGTGTCAG	0.547													30	79					0	0	0	0	T	152732235	C	T	152732235	2	4	175	1	0	0	0	0	0	0	0	1	8488	747	26	4		4	KPRP	1	152732235	Silent	SNP	C	TCGA-CR-6467-01A-11D-1870-08	114409152	152732235	96518386	4	30725											
LRP1B	53353	broad.mit.edu	37	chr2	141267498	141267498	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggccagtgttcataccGcagcctgctgtggaaagctc	7	9	11	14	1	1	0	1	0	0	0	2	1	1	1	4	2	4	4	4	2	2	2			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr2:141267498G>A	ENST00000389484.3	-	52	9368	c.8398_splice	c.e52+1	p.C2799_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2799	LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C2799C(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTTCATACCGCAGCCTGCTG	0.507										TSP Lung(27;0.18)			4	110					0	0	0	0	A	141267498	G	A	141267498	5	1	175	1	0	0	0	0	0	0	1	0	9019	1101	38	1	5562	1	LRP1B	2	141267498	Splice_Site	SNP	G	TCGA-CR-6467-01A-11D-1870-08		141267498	101931875	5	30726											
OBSL1	23363	broad.mit.edu	37	chr2	220435109	220435109	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggagcagcgggcggccCtcccagtgccattcgatctc	5	7	13	16	4	1	0	0	0	1	0	5	2	3	1	4	3	3	1	4	3	0	1			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr2:220435109C>T	ENST00000404537.1	-	1	902	c.846G>A	c.(844-846)gaG>gaA	p.E282E	OBSL1_ENST00000265318.4_Silent_p.E282E|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000603926.1_Silent_p.E282E|OBSL1_ENST00000373873.4_Silent_p.E282E|OBSL1_ENST00000373876.1_Silent_p.E282E|OBSL1_ENST00000289656.3_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	282	Ig-like 3.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCGGGCGGCCCTCCCAGTGCC	0.672													10	20					0	0	0	0	T	220435109	C	T	220435109	2	4	175	1	0	0	0	0	0	0	0	1	10884	680	24	4		4	OBSL1	2	220435109	Silent	SNP	C	TCGA-CR-6467-01A-11D-1870-08	79167611	220435109	22764264	6	30727											
SP140L	93349	broad.mit.edu	37	chr2	231223763	231223763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggagaagacatttaacCtgtcagttttggaagcactg	13	11	10	7	0	1	2	1	0	0	2	1	4	1	3	1	2	3	2	1	2	4	4			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr2:231223763C>A	ENST00000243810.6	+	4	355	c.355C>A	c.(355-357)Ctg>Atg	p.L119M	SP140L_ENST00000415673.2_Missense_Mutation_p.L119M|SP140L_ENST00000444636.1_Missense_Mutation_p.L119M|SP140L_ENST00000396563.4_Missense_Mutation_p.L119M|SP140L_ENST00000458341.1_Missense_Mutation_p.L32M			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	119	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GACATTTAACCTGTCAGTTTT	0.358													4	161					0.014758	0.0153405	1	0	A	231223763	C	A	231223763	3	1	175	1	0	0	0	0	1	0	0	0	15051	680	24	4	369	4	SP140L	2	231223763	Missense_Mutation	SNP	C	TCGA-CR-6467-01A-11D-1870-08	10788654	231223763	11975610	7	30728											
KIF1A	547	broad.mit.edu	37	chr2	241722504	241722504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgcccagggtggtcagcGacttgttgatgttggccccc	4	11	13	13	1	1	1	1	1	0	0	1	2	1	1	4	3	2	2	4	3	0	4			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr2:241722504G>A	ENST00000498729.2	-	9	1067	c.821C>T	c.(820-822)tCg>tTg	p.S274L	KIF1A_ENST00000320389.7_Missense_Mutation_p.S274L	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	274	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTGGTCAGCGACTTGTTGAT	0.657													24	40					0	0	0	0	A	241722504	G	A	241722504	3	1	175	1	0	0	0	0	1	0	0	0	8334	1059	37	1	4407	1	KIF1A	2	241722504	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08	10498741	241722504	1476869	8	30729											
SLC4A7	9497	broad.mit.edu	37	chr3	27431585	27431585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcattccaaataattttataCggtcaaataactacatatag	17	13	4	7	1	1	0	1	0	0	0	2	0	2	0	1	1	3	1	1	1	9	9			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr3:27431585C>T	ENST00000295736.5	-	22	3240	c.3170G>A	c.(3169-3171)cGt>cAt	p.R1057H	SLC4A7_ENST00000388777.4_Missense_Mutation_p.R607H|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R933H|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1053H|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1049H|SLC4A7_ENST00000437179.1_Missense_Mutation_p.R938H|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1066H|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R938H|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R942H|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1053H	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1057						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TAATTTTATACGGTCAAATAA	0.328													4	163					0	0	0	0	T	27431585	C	T	27431585	3	4	175	1	0	0	0	0	1	0	0	0	14746	536	19	1	490	1	SLC4A7	3	27431585	Missense_Mutation	SNP	C	TCGA-CR-6467-01A-11D-1870-08		27431585	170590845	9	30730											
ZCCHC4	29063	broad.mit.edu	37	chr4	25314436	25314436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacggcggcgggaagatggCggcctccaggaatgggtttg	7	6	20	8	4	0	1	0	0	0	1	1	4	1	4	2	8	0	1	2	8	2	1			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr4:25314436C>T	ENST00000302874.4	+	1	29	c.5C>T	c.(4-6)gCg>gTg	p.A2V	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	2							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GGGAAGATGGCGGCCTCCAGG	0.652											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	174					0	0	0	0	T	25314436	C	T	25314436	3	4	175	1	0	0	0	0	1	0	0	0	17685	768	27	1	7	1	ZCCHC4	4	25314436	Missense_Mutation	SNP	C	TCGA-CR-6467-01A-11D-1870-08		25314436	165839840	10	30731											
NAA11	84779	broad.mit.edu	37	chr4	80247011	80247011	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattcatcaggtcgtctggCtgagcgttgcggatgttcat	7	14	12	8	3	4	1	3	1	1	0	5	2	4	2	0	3	2	3	0	3	1	4			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr4:80247011C>T	ENST00000286794.4	-	1	193	c.21G>A	c.(19-21)caG>caA	p.Q7Q		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	7	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GGTCGTCTGGCTGAGCGTTGC	0.522													15	25					0	0	0	0	T	80247011	C	T	80247011	2	4	175	1	0	0	0	0	0	0	0	1	10187	796	28	4		4	NAA11	4	80247011	Silent	SNP	C	TCGA-CR-6467-01A-11D-1870-08	54932575	80247011	110907265	11	30732											
EGF	1950	broad.mit.edu	37	chr4	110915936	110915936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatgaccaccactattccGtaagaaatagtgactctgaa	16	9	7	9	1	1	5	0	3	1	2	2	5	2	5	3	0	0	1	3	0	6	4			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr4:110915936G>A	ENST00000265171.5	+	20	3350	c.2905G>A	c.(2905-2907)Gta>Ata	p.V969I	EGF_ENST00000509793.1_Missense_Mutation_p.V927I|EGF_ENST00000503392.1_Missense_Mutation_p.V928I	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	969					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CCACTATTCCGTAAGAAATAG	0.443													27	47					0	0	0	0	A	110915936	G	A	110915936	3	1	175	1	0	0	0	0	1	0	0	0	4998	1145	40	1	2983	1	EGF	4	110915936	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08	30668925	110915936	80238340	12	30733											
TBC1D9	23158	broad.mit.edu	37	chr4	141583131	141583131	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcccatttcattctgaaaAgctgggtgttctggaaggga	10	12	12	7	0	3	1	1	1	2	0	3	3	3	3	1	3	2	2	1	3	3	3			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr4:141583131A>T	ENST00000442267.2	-	10	1793	c.1719T>A	c.(1717-1719)gcT>gcA	p.A573A		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	573	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CATTCTGAAAAGCTGGGTGTT	0.468													24	58					0	0	0	0	T	141583131	A	T	141583131	2	4	175	1	0	0	0	0	0	0	0	1	15721	59	3	5		5	TBC1D9	4	141583131	Silent	SNP	A	TCGA-CR-6467-01A-11D-1870-08	30667195	141583131	49571145	13	30734											
FAM149A	25854	broad.mit.edu	37	chr4	187074901	187074901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacccccgctcagtgcctgCggacacagcagcaacatcag	11	4	10	16	2	2	1	2	0	0	1	2	2	2	2	3	1	5	3	3	1	1	0			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr4:187074901C>T	ENST00000356371.5	+	5	1062	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C	FAM149A_ENST00000227065.4_Silent_p.C63C|FAM149A_ENST00000503432.1_Silent_p.C63C|FAM149A_ENST00000502970.1_Silent_p.C63C|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000389354.5_Silent_p.C63C|FAM149A_ENST00000514153.1_Silent_p.C63C			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	354										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCAGTGCCTGCGGACACAGCA	0.468													4	174					0	0	0	0	T	187074901	C	T	187074901	2	4	175	1	0	0	0	0	0	0	0	1	5496	776	27	1		1	FAM149A	4	187074901	Silent	SNP	C	TCGA-CR-6467-01A-11D-1870-08	45491770	187074901	4079375	14	30735											
GPR98	84059	broad.mit.edu	37	chr5	89943471	89943471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgttgaaaaaggagaaaCgctcatttttgaggttggaa	13	12	11	5	1	1	3	1	2	0	1	2	5	2	4	1	3	1	3	1	3	4	4			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr5:89943471C>T	ENST00000405460.2	+	17	3275	c.3179C>T	c.(3178-3180)aCg>aTg	p.T1060M		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1060	Calx-beta 8.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAGGAGAAACGCTCATTTTT	0.413													33	139					0	0	0	0	T	89943471	C	T	89943471	3	4	175	1	0	0	0	0	1	0	0	0	6771	536	19	1	3245	1	GPR98	5	89943471	Missense_Mutation	SNP	C	TCGA-CR-6467-01A-11D-1870-08		89943471	90971789	15	30736											
TCERG1	10915	broad.mit.edu	37	chr5	145851099	145851099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagaaaaggctgcccagaagGcaaagccagttgctactgct	14	6	11	10	0	0	2	0	0	0	2	0	2	0	2	2	2	5	5	2	2	6	2			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr5:145851099G>A	ENST00000296702.5	+	9	1599	c.1561G>A	c.(1561-1563)Gca>Aca	p.A521T	TCERG1_ENST00000394421.2_Missense_Mutation_p.A500T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	521					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCCAGAAGGCAAAGCCAGT	0.388													74	67					0	0	0	0	A	145851099	G	A	145851099	3	1	175	1	0	0	0	0	1	0	0	0	15779	1203	42	4	1595	4	TCERG1	5	145851099	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08	55907628	145851099	35064161	16	30737											
HLA-A	3105	broad.mit.edu	37	chr6	29911160	29911179	+	Frame_Shift_Del	DEL	CCTGCGCTCTTGGACCGCGG	CCTGCGCTCTTGGACCGCGG	-																															tacatcgccctgaacgaggaCctgcgctcttggaccgcggc																								rs41542714		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr6:29911160_29911179delCCTGCGCTCTTGGACCGCGG	ENST00000396634.1	+	5	800_819	c.459_478delCCTGCGCTCTTGGACCGCGG	c.(457-480)gacgfs	p.DLRSWTAA153fs	HLA-A_ENST00000376809.5_Frame_Shift_Del_p.DLRSWTAA153fs|HLA-A_ENST00000376806.5_Frame_Shift_Del_p.DLRSWTAA153fs|HLA-A_ENST00000376802.2_Frame_Shift_Del_p.DLRSWTAA153fs			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	153	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.A160fs*15(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGC	0.655									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			14	25	---	---	---	---					-	29911179	CCTGCGCTCTTGGACCGCGG	-	29911160	7	5	175	1	0	1	0	1	0	0	0	0	7245	506	18	0	469	0	HLA-A	6	29911160	Frame_Shift_Del	DEL	CCTGCGCTCTTGGACCGCGG	TCGA-CR-6467-01A-11D-1870-08		29911160	141203907	17	30738											
PPP1R10	5514	broad.mit.edu	37	chr6	30571952	30571952	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcatggctcagacgccgCgctgtctcaaatgcatgtcg	8	11	10	12	4	3	1	3	0	1	1	5	1	3	1	1	1	1	3	1	1	2	1			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr6:30571952C>T	ENST00000376511.2	-	14	1893	c.1341G>A	c.(1339-1341)gcG>gcA	p.A447A		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	447	Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCAGACGCCGCGCTGTCTCAA	0.552													109	45					0	0	0	0	T	30571952	C	T	30571952	2	4	175	1	0	0	0	0	0	0	0	1	12428	755	27	1		1	PPP1R10	6	30571952	Silent	SNP	C	TCGA-CR-6467-01A-11D-1870-08	660792	30571952	140543115	18	30739											
SYNE1	23345	broad.mit.edu	37	chr6	152651634	152651634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggttcagttcatccaccGcctccccaaggcccgccacc	6	8	7	20	2	3	0	2	0	1	0	5	0	5	0	8	2	0	2	8	2	1	2			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr6:152651634G>A	ENST00000367255.5	-	78	14787	c.14186C>T	c.(14185-14187)gCg>gTg	p.A4729V	SYNE1_ENST00000448038.1_Missense_Mutation_p.A4658V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4476V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4658V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4729V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4729					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCATCCACCGCCTCCCCAAG	0.552										HNSCC(10;0.0054)			14	42					0	0	0	0	A	152651634	G	A	152651634	3	1	175	1	0	0	0	0	1	0	0	0	15536	1087	38	1	12556	1	SYNE1	6	152651634	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08	122079682	152651634	18463433	19	30740											
TTLL2	83887	broad.mit.edu	37	chr6	167754366	167754367	+	Frame_Shift_Ins	INS	-	-	T																															gtaaatggacgctcagcagaINStttttttcctaccttcgtag																								rs150247166		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr6:167754366_167754367insT	ENST00000239587.5	+	3	1066_1067	c.978_979insT	c.(976-981)agttttfs	p.SF326fs		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	326	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGCTCAGCAGATTTTTTTCCTA	0.446													82	161	---	---	---	---					T	167754367	-	T	167754366	7	5	175	1	0	1	1	0	0	0	0	0	16823	330	12	0	988	0	TTLL2	6	167754366	Frame_Shift_Ins	INS	-	TCGA-CR-6467-01A-11D-1870-08	15102732	167754366	3360701	20	30741											
EIF2AK1	27102	broad.mit.edu	37	chr7	6077066	6077066	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacttaccttcagatctcGgtgcacaattcccatgttat	9	13	5	14	1	2	1	1	0	1	1	4	1	3	1	3	1	2	2	3	1	3	4			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr7:6077066G>A	ENST00000199389.6	-	11	1467	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	EIF2AK1_ENST00000536084.1_Nonsense_Mutation_p.R317*	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	441	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TTCAGATCTCGGTGCACAATT	0.378													32	45					0	0	0	0	A	6077066	G	A	6077066	4	1	175	1	0	0	0	0	0	1	0	0	5032	1124	39	1	591	1	EIF2AK1	7	6077066	Nonsense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08		6077066	153061597	21	30742											
EEPD1	80820	broad.mit.edu	37	chr7	36194642	36194642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctggacctgccgccagggGggcccacccagattatctcc	7	6	11	17	1	1	1	0	0	1	1	2	2	1	2	7	4	1	0	7	4	1	1			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr7:36194642G>A	ENST00000242108.4	+	2	1427	c.709G>A	c.(709-711)Ggg>Agg	p.G237R	EEPD1_ENST00000534978.1_Missense_Mutation_p.G237R	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	237					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GCCGCCAGGGGGGCCCACCCA	0.662													8	28					0	0	0	0	A	36194642	G	A	36194642	3	1	175	1	0	0	0	0	1	0	0	0	4968	1232	43	4	711	4	EEPD1	7	36194642	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08	30117576	36194642	122944021	22	30743											
POM121L12	285877	broad.mit.edu	37	chr7	53103445	53103445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgctgcaaggccccgaCgccctggcggctcccatgag	5	5	12	19	3	0	1	0	1	0	0	1	2	1	1	6	3	2	3	6	3	1	0			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr7:53103445C>T	ENST00000408890.4	+	1	97	c.81C>T	c.(79-81)gaC>gaT	p.D27D		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	27										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AAGGCCCCGACGCCCTGGCGG	0.701													7	13					0	0	0	0	T	53103445	C	T	53103445	2	4	175	1	0	0	0	0	0	0	0	1	12313	535	19	1		1	POM121L12	7	53103445	Silent	SNP	C	TCGA-CR-6467-01A-11D-1870-08	16908803	53103445	106035218	23	30744											
XPO7	23039	broad.mit.edu	37	chr8	21851879	21851879	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttctactacagcgaacTctagttggcctagtaagaga	11	11	9	10	1	2	1	0	0	2	1	2	3	2	1	2	1	5	2	2	1	6	7			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr8:21851879T>A	ENST00000434536.1	+	20	2283	c.2181T>A	c.(2179-2181)acT>acA	p.T727T	XPO7_ENST00000433566.4_Silent_p.T719T|XPO7_ENST00000252512.9_Silent_p.T718T			Q9UIA9	XPO7_HUMAN	exportin 7	718					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TACAGCGAACTCTAGTTGGCC	0.388													18	35					0	0	0	0	A	21851879	T	A	21851879	2	1	175	1	0	0	0	0	0	0	0	1	17545	1538	54	5		5	XPO7	8	21851879	Silent	SNP	T	TCGA-CR-6467-01A-11D-1870-08		21851879	124512143	24	30745											
ASH2L	9070	broad.mit.edu	37	chr8	37986388	37986388	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactcttctggctatggacaGggagacgtcctgggatttta	8	13	12	8	1	2	1	0	0	2	1	3	4	3	3	1	4	1	1	1	4	3	5			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr8:37986388G>A	ENST00000343823.6	+	12	1755	c.1446G>A	c.(1444-1446)caG>caA	p.Q482Q	ASH2L_ENST00000545394.1_Silent_p.Q343Q|ASH2L_ENST00000521652.1_Silent_p.Q388Q|ASH2L_ENST00000250635.7_Silent_p.Q388Q|ASH2L_ENST00000428278.2_Silent_p.Q388Q	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	482	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GCTATGGACAGGGAGACGTCC	0.443													108	487					0	0	0	0	A	37986388	G	A	37986388	2	1	175	1	0	0	0	0	0	0	0	1	1046	991	35	4		4	ASH2L	8	37986388	Silent	SNP	G	TCGA-CR-6467-01A-11D-1870-08	16134509	37986388	108377634	25	30746											
PDE7A	5150	broad.mit.edu	37	chr8	66695027	66695027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataatgcttacctagcatacGaatgtataatgcagtctgat	14	13	7	7	1	1	1	0	1	1	0	1	2	1	1	1	0	5	4	1	0	7	6			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr8:66695027G>A	ENST00000401827.3	-	2	633	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	PDE7A_ENST00000379419.4_Missense_Mutation_p.R38C|PDE7A_ENST00000396642.3_Missense_Mutation_p.R64C	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	64						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CCTAGCATACGAATGTATAAT	0.284													11	15					0	0	0	0	A	66695027	G	A	66695027	3	1	175	1	0	0	0	0	1	0	0	0	11722	1058	37	1	1338	1	PDE7A	8	66695027	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08	28708639	66695027	79668995	26	30747											
ZHX2	22882	broad.mit.edu	37	chr8	123966105	123966105	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccagggtagcgacgagaaCgaggagtcgagcgttgtgga	10	5	19	7	5	0	1	0	0	0	1	1	7	0	3	1	4	3	2	1	4	2	2			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr8:123966105C>T	ENST00000314393.4	+	3	3190	c.2355C>T	c.(2353-2355)aaC>aaT	p.N785N		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	785						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCGACGAGAACGAGGAGTCGA	0.612													9	31					0	0	0	0	T	123966105	C	T	123966105	2	4	175	1	0	0	0	0	0	0	0	1	17771	535	19	1		1	ZHX2	8	123966105	Silent	SNP	C	TCGA-CR-6467-01A-11D-1870-08	57271078	123966105	22397917	27	30748											
SLC24A2	25769	broad.mit.edu	37	chr9	19619581	19619581	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaccaaagcttgatgtttaCcttcggcgagtgggtcaagg	11	10	12	8	2	1	1	1	1	0	0	2	2	1	1	2	3	3	2	2	3	4	4			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr9:19619581C>T	ENST00000341998.2	-	3	1140		c.e3+1		SLC24A2_ENST00000286344.3_Splice_Site	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2						visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TTGATGTTTACCTTCGGCGAG	0.512													46	155					0	0	0	0	T	19619581	C	T	19619581	5	4	175	1	0	0	0	0	0	0	1	0	14554	521	18	4	938	4	SLC24A2	9	19619581	Splice_Site	SNP	C	TCGA-CR-6467-01A-11D-1870-08		19619581	121593850	28	30749											
MAPKAP1	79109	broad.mit.edu	37	chr9	128347842	128347842	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatggattacttgagcttCggctcccgtccttcgcttgt	6	14	10	11	3	0	2	0	1	0	1	4	3	2	3	2	2	2	3	2	2	2	5			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr9:128347842C>T	ENST00000265960.3	-	5	995	c.663G>A	c.(661-663)ccG>ccA	p.P221P	MAPKAP1_ENST00000373503.3_Silent_p.P29P|MAPKAP1_ENST00000350766.3_Silent_p.P221P|MAPKAP1_ENST00000373497.5_Silent_p.P29P|MAPKAP1_ENST00000394060.3_Silent_p.P221P|MAPKAP1_ENST00000373511.2_Silent_p.P221P|MAPKAP1_ENST00000394063.1_Silent_p.P29P|MAPKAP1_ENST00000373498.1_Silent_p.P221P	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	221					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	p.P221P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						ACTTGAGCTTCGGCTCCCGTC	0.532													26	111					0	0	0	0	T	128347842	C	T	128347842	2	4	175	1	0	0	0	0	0	0	0	1	9357	871	31	1		1	MAPKAP1	9	128347842	Silent	SNP	C	TCGA-CR-6467-01A-11D-1870-08	108728261	128347842	12865589	29	30750											
MTPAP	55149	broad.mit.edu	37	chr10	30638194	30638194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtcaagagccccacgccgGgaaccgccattgctaaaaaa	13	4	11	13	3	1	1	1	0	0	1	1	2	1	2	5	2	3	1	5	2	5	2			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr10:30638194G>A	ENST00000263063.3	-	1	54	c.11C>T	c.(10-12)cCc>cTc	p.P4L	MTPAP_ENST00000358107.4_Intron|MTPAP_ENST00000488290.1_Intron	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	4					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCCCACGCCGGGAACCGCCAT	0.567													3	31					0	0	0	0	A	30638194	G	A	30638194	3	1	175	1	0	0	0	0	1	0	0	0	10026	1232	43	4	1773	4	MTPAP	10	30638194	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08		30638194	104896553	30	30751											
TACC2	10579	broad.mit.edu	37	chr10	123989891	123989891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttagagtttgccatcatgcGgatagaagccctgaagctgg	10	10	13	8	1	1	3	1	1	0	2	1	4	1	4	2	2	4	3	2	2	4	3			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr10:123989891G>A	ENST00000369005.1	+	16	8403	c.8063G>A	c.(8062-8064)cGg>cAg	p.R2688Q	TACC2_ENST00000513429.1_Missense_Mutation_p.R834Q|TACC2_ENST00000358010.1_Missense_Mutation_p.R834Q|TACC2_ENST00000260733.3_Missense_Mutation_p.R766Q|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000369004.3_Intron|TACC2_ENST00000360561.3_Intron|TACC2_ENST00000368999.1_Missense_Mutation_p.R778Q|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R2688Q|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000515603.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2688						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.R2688Q(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCATCATGCGGATAGAAGCC	0.567													35	93					0	0	0	0	A	123989891	G	A	123989891	3	1	175	1	0	0	0	0	1	0	0	0	15593	1116	39	1	8193	1	TACC2	10	123989891	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08	93351697	123989891	11544856	31	30752											
ILK	3611	broad.mit.edu	37	chr11	6630568	6630568	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggcaatgacattgtcgtGaaggtgctgaaggttcgaga	11	9	15	6	2	0	4	0	3	0	1	2	5	0	4	0	3	1	3	0	3	3	2			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr11:6630568G>A	ENST00000396751.2	+	7	1113	c.657G>A	c.(655-657)gtG>gtA	p.V219V	ILK_ENST00000528995.1_Silent_p.V158V|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000299421.4_Silent_p.V219V|ILK_ENST00000420936.2_Silent_p.V219V|ILK_ENST00000537806.1_Silent_p.V85V	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	219	Protein kinase.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		ACATTGTCGTGAAGGTGCTGA	0.547													24	57					0	0	0	0	A	6630568	G	A	6630568	2	1	175	1	0	0	0	0	0	0	0	1	7766	1277	45	2		2	ILK	11	6630568	Silent	SNP	G	TCGA-CR-6467-01A-11D-1870-08		6630568	128375948	32	30753											
CKAP5	9793	broad.mit.edu	37	chr11	46800015	46800015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagactggaacctacctgatCtccgtcctcggcaaaagatc	11	8	8	14	2	1	3	0	1	1	2	5	4	2	4	4	2	2	1	4	2	4	1			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr11:46800015C>G	ENST00000529230.1	-	21	2614	c.2568G>C	c.(2566-2568)gaG>gaC	p.E856D	CKAP5_ENST00000354558.3_Missense_Mutation_p.E856D|CKAP5_ENST00000415402.1_Missense_Mutation_p.E856D|CKAP5_ENST00000312055.5_Missense_Mutation_p.E856D			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	856					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CCTACCTGATCTCCGTCCTCG	0.413													23	54					0	0	0	0	G	46800015	C	G	46800015	3	3	175	1	0	0	0	0	1	0	0	0	3475	912	32	2	3626	2	CKAP5	11	46800015	Missense_Mutation	SNP	C	TCGA-CR-6467-01A-11D-1870-08	40169447	46800015	88206501	33	30754											
AKAP3	10566	broad.mit.edu	37	chr12	4735774	4735774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgttctgaactgtgtccGttaggttgtgattgctgaca	6	16	12	7	1	1	3	0	3	1	0	2	3	2	3	1	1	2	5	1	1	2	5			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr12:4735774G>A	ENST00000545990.2	-	5	2818	c.2294C>T	c.(2293-2295)aCg>aTg	p.T765M	AKAP3_ENST00000228850.1_Missense_Mutation_p.T765M	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	765					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AACTGTGTCCGTTAGGTTGTG	0.488													30	126					0	0	0	0	A	4735774	G	A	4735774	3	1	175	1	0	0	0	0	1	0	0	0	452	1145	40	1	275	1	AKAP3	12	4735774	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08		4735774	129116121	34	30755											
PIK3C2G	5288	broad.mit.edu	37	chr12	18435208	18435208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgaaaacaccttttttGtgcccactgcaccaaaatgg	12	12	7	10	0	0	2	0	2	0	0	0	2	0	2	3	1	3	1	3	1	4	4			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr12:18435208G>T	ENST00000433979.1	+	2	309	c.193G>T	c.(193-195)Gtg>Ttg	p.V65L	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.V65L|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.V65L|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.V65L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	65					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CACCTTTTTTGTGCCCACTGC	0.408													4	86					0.150653	0.154567	1	0	T	18435208	G	T	18435208	3	4	175	1	0	0	0	0	1	0	0	0	11983	1377	48	4	195	4	PIK3C2G	12	18435208	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08	13699434	18435208	115416687	35	30756											
KRT6B	3854	broad.mit.edu	37	chr12	52843354	52843354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccaggtccaggttgcGgttgttgtccatggatagca	6	12	14	9	1	0	0	0	0	0	0	3	1	3	1	3	4	2	5	3	4	1	4			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr12:52843354G>A	ENST00000252252.3	-	5	1023	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	326	Linker 12.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCCAGGTTGCGGTTGTTGTCC	0.527													4	220					0	0	0	0	A	52843354	G	A	52843354	3	1	175	1	0	0	0	0	1	0	0	0	8533	1116	39	1	738	1	KRT6B	12	52843354	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08	34408146	52843354	81008541	36	30757											
PCDH8	5100	broad.mit.edu	37	chr13	53420242	53420242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcgcacctccttcttgCggcggttgcaggtggtggcg	2	12	15	12	4	1	0	0	0	1	0	2	0	2	0	2	5	3	3	2	5	0	4			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr13:53420242C>T	ENST00000377942.3	-	1	2533	c.2330G>A	c.(2329-2331)cGc>cAc	p.R777H	PCDH8_ENST00000338862.4_Missense_Mutation_p.R777H	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	777					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTCCTTCTTGCGGCGGTTGCA	0.741													15	17					0	0	0	0	T	53420242	C	T	53420242	3	4	175	1	0	0	0	0	1	0	0	0	11588	768	27	1	894	1	PCDH8	13	53420242	Missense_Mutation	SNP	C	TCGA-CR-6467-01A-11D-1870-08		53420242	61749636	37	30758											
GPC5	2262	broad.mit.edu	37	chr13	92345950	92345950	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatactgcctcaatgtcatgCgaggctgcctggcgcacatg	8	9	12	12	2	2	0	2	0	0	0	2	2	2	0	2	2	4	2	2	2	2	1			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr13:92345950C>T	ENST00000377067.3	+	3	1207	c.835C>T	c.(835-837)Cga>Tga	p.R279*		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	279						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAATGTCATGCGAGGCTGCCT	0.542													22	27					0	0	0	0	T	92345950	C	T	92345950	4	4	175	1	0	0	0	0	0	1	0	0	6650	760	27	1	845	1	GPC5	13	92345950	Nonsense_Mutation	SNP	C	TCGA-CR-6467-01A-11D-1870-08	38925708	92345950	22823928	38	30759											
FSCB	84075	broad.mit.edu	37	chr14	44974032	44974032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcagaagcaaatcagctGgtggggaatgtttgtcaacg	12	9	13	7	1	3	1	3	0	0	1	3	2	3	2	0	3	3	3	0	3	4	1			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr14:44974032G>A	ENST00000340446.4	-	1	2450	c.2159C>T	c.(2158-2160)cCa>cTa	p.P720L		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	720						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CAAATCAGCTGGTGGGGAATG	0.522													11	30					0	0	0	0	A	44974032	G	A	44974032	3	1	175	1	0	0	0	0	1	0	0	0	6114	1348	47	4	322	4	FSCB	14	44974032	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08		44974032	62375508	39	30760											
RPL4	6124	broad.mit.edu	37	chr15	66795855	66795855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagtacaccgatatcagtgGgcgagcacacgcctaaagaa	14	5	12	10	3	1	1	1	0	0	1	1	4	1	2	2	2	2	2	2	2	5	3	rs142487012		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr15:66795855G>A	ENST00000307961.6	-	2	108	c.16C>T	c.(16-18)Cca>Tca	p.P6S	RPL4_ENST00000568588.1_5'UTR	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	6					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GATATCAGTGGGCGAGCACAC	0.403													26	11					0	0	0	0	A	66795855	G	A	66795855	3	1	175	1	0	0	0	0	1	0	0	0	13680	1232	43	4	1303	4	RPL4	15	66795855	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08		66795855	35735537	40	30761											
XYLT1	64131	broad.mit.edu	37	chr16	17202658	17202658	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatgaccgggcaggctGtggggcccgtggcacagatg	6	7	17	11	2	1	2	0	1	1	1	1	2	1	2	2	5	1	4	2	5	0	0			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr16:17202658G>C	ENST00000261381.6	-	12	2858	c.2774C>G	c.(2773-2775)aCa>aGa	p.T925R		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	925					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGGGCAGGCTGTGGGGCCCGT	0.677													9	19					0	0	0	0	C	17202658	G	C	17202658	3	2	175	1	0	0	0	0	1	0	0	0	17559	1377	48	4	109	4	XYLT1	16	17202658	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08		17202658	73152095	41	30762											
GLOD4	51031	broad.mit.edu	37	chr17	685428	685428	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatccccaggacgtcccgaTagaaacgcgccgtctggaag	10	6	11	14	5	2	1	1	0	1	1	4	4	4	3	4	2	1	0	4	2	3	1			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr17:685428T>C	ENST00000301329.6	-	1	153	c.68A>G	c.(67-69)tAt>tGt	p.Y23C	GLOD4_ENST00000301328.5_Missense_Mutation_p.Y23C|GLOD4_ENST00000536578.1_5'UTR	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	23						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GACGTCCCGATAGAAACGCGC	0.692													13	32					0	0	0	0	C	685428	T	C	685428	3	2	175	1	0	0	0	0	1	0	0	0	6501	1406	49	5	864	5	GLOD4	17	685428	Missense_Mutation	SNP	T	TCGA-CR-6467-01A-11D-1870-08		685428	80509782	42	30763											
DNAH2	146754	broad.mit.edu	37	chr17	7668743	7668743	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacagtctcaacggggagtGggttgtcttccaacaaactc	10	9	12	10	1	2	0	1	0	2	0	5	2	3	2	1	4	3	1	1	4	3	2			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr17:7668743G>A	ENST00000572933.1	+	21	4831	c.3371G>A	c.(3370-3372)tGg>tAg	p.W1124*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W1124*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1124	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AACGGGGAGTGGGTTGTCTTC	0.537													28	74					0	0	0	0	A	7668743	G	A	7668743	4	1	175	1	0	0	0	0	0	1	0	0	4639	1357	47	4	3449	4	DNAH2	17	7668743	Nonsense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08	6983315	7668743	73526467	43	30764											
TBC1D3B	414059	broad.mit.edu	37	chr17	34499240	34499240	+	Frame_Shift_Del	DEL	C	C	-																															ccgtatcgatccctgaagaaCatatgcttccttaatgtccc																										TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr17:34499240delC	ENST00000454519.3	-	7	620	c.471delG	c.(469-471)atfs	p.M157fs	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Frame_Shift_Del_p.M157fs	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	157	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCTGAAGAACATATGCTTCC	0.562													48	1435	---	---	---	---					-	34499240	C	-	34499240	7	5	175	1	0	1	0	1	0	0	0	0	15712	478	17	0	1210	0	TBC1D3B	17	34499240	Frame_Shift_Del	DEL	C	TCGA-CR-6467-01A-11D-1870-08	26830497	34499240	46695970	44	30765											
DHX58	79132	broad.mit.edu	37	chr17	40253880	40253880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactttttggcctggatccGcccctgaggggtctccagca	5	10	11	15	1	1	1	0	1	1	0	3	2	2	2	6	4	1	1	6	4	0	2			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr17:40253880G>A	ENST00000251642.3	-	14	2158	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	646	RNA-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCCTGGATCCGCCCCTGAGGG	0.587											OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	68					0	0	0	0	A	40253880	G	A	40253880	3	1	175	1	0	0	0	0	1	0	0	0	4551	1086	38	1	104	1	DHX58	17	40253880	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08	5754640	40253880	40941330	45	30766											
SPOP	8405	broad.mit.edu	37	chr17	47688665	47688665	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagatagccttgtgagccTggaattcctggccggcaaca	10	9	11	11	1	0	2	0	1	0	1	1	3	1	3	4	3	3	1	4	3	4	4			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr17:47688665T>C	ENST00000393331.3	-	8	1105	c.635A>G	c.(634-636)cAg>cGg	p.Q212R	SPOP_ENST00000347630.2_Missense_Mutation_p.Q212R|SPOP_ENST00000504102.1_Missense_Mutation_p.Q212R|SPOP_ENST00000503676.1_Missense_Mutation_p.Q212R|SPOP_ENST00000393328.2_Missense_Mutation_p.Q212R	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	212	BTB.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTTGTGAGCCTGGAATTCCTG	0.448										Prostate(2;0.17)			4	201					0	0	0	0	C	47688665	T	C	47688665	3	2	175	1	0	0	0	0	1	0	0	0	15174	1580	55	5	509	5	SPOP	17	47688665	Missense_Mutation	SNP	T	TCGA-CR-6467-01A-11D-1870-08	7434785	47688665	33506545	46	30767											
ITGB4	3691	broad.mit.edu	37	chr17	73753345	73753345	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgcaaagcgagtacagCagcatcaccaccacccacac	13	3	7	18	2	1	0	1	0	0	0	1	1	1	0	4	0	5	5	4	0	2	1			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr17:73753345C>T	ENST00000200181.3	+	39	5470	c.5283C>T	c.(5281-5283)agC>agT	p.S1761S	ITGB4_ENST00000579662.1_Silent_p.S1691S|ITGB4_ENST00000450894.3_Silent_p.S1691S|ITGB4_ENST00000449880.2_Silent_p.S1744S|ITGB4_ENST00000339591.3_Silent_p.S1744S|GALK1_ENST00000225614.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1761					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGAGTACAGCAGCATCACCA	0.667													16	37					0	0	0	0	T	73753345	C	T	73753345	2	4	175	1	0	0	0	0	0	0	0	1	7950	709	25	4		4	ITGB4	17	73753345	Silent	SNP	C	TCGA-CR-6467-01A-11D-1870-08	26064680	73753345	7441865	47	30768											
ATP5A1	498	broad.mit.edu	37	chr18	43666161	43666161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcatcgaggtcagaaccGaactgggcaaaagcagcaac	15	3	12	11	2	1	1	1	0	0	1	2	3	1	1	1	2	6	5	1	2	5	0	rs141613719		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr18:43666161G>A	ENST00000593152.2	-	10	1736	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	ATP5A1_ENST00000398752.6_Silent_p.F449F|ATP5A1_ENST00000590665.1_Silent_p.F427F|ATP5A1_ENST00000282050.2_Silent_p.F449F	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	449					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GGTCAGAACCGAACTGGGCAA	0.458													52	44					0	0	0	0	A	43666161	G	A	43666161	2	1	175	1	0	0	0	0	0	0	0	1	1151	1049	37	1		1	ATP5A1	18	43666161	Silent	SNP	G	TCGA-CR-6467-01A-11D-1870-08		43666161	34411087	48	30769											
APBA3	9546	broad.mit.edu	37	chr19	3752701	3752701	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgcccaggccctcccctcgCcgcttctcgaggtgcacctg	4	7	10	20	4	1	0	0	0	1	0	4	1	2	0	6	2	1	2	6	2	0	1			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr19:3752701C>G	ENST00000316757.3	-	8	1400	c.1200G>C	c.(1198-1200)cgG>cgC	p.R400R		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	400	PDZ 1.				intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCCCTCGCCGCTTCTCGA	0.746													6	8					0	0	0	0	G	3752701	C	G	3752701	2	3	175	1	0	0	0	0	0	0	0	1	759	726	26	4		4	APBA3	19	3752701	Silent	SNP	C	TCGA-CR-6467-01A-11D-1870-08		3752701	55376282	49	30770											
DPP9	91039	broad.mit.edu	37	chr19	4684712	4684712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcgaaccgaagccctCgctgacaggagcccctgccg	7	5	10	19	4	0	1	0	1	0	0	2	4	0	2	7	1	4	1	7	1	2	1			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr19:4684712C>A	ENST00000262960.9	-	18	2418	c.2141G>T	c.(2140-2142)cGa>cTa	p.R714L	DPP9_ENST00000601173.1_5'UTR|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000594671.1_Missense_Mutation_p.R685L|DPP9_ENST00000598800.1_Missense_Mutation_p.R685L	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	685					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CCGAAGCCCTCGCTGACAGGA	0.582													7	15					1.26484e-09	1.3688e-09	1	0	A	4684712	C	A	4684712	3	1	175	1	0	0	0	0	1	0	0	0	4769	884	31	3	557	3	DPP9	19	4684712	Missense_Mutation	SNP	C	TCGA-CR-6467-01A-11D-1870-08	932011	4684712	54444271	50	30771											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56703238	56703238	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctcctggacagtgcaGcgaccctgggcaggatctgc	6	7	13	15	1	1	0	0	0	1	0	2	3	2	2	4	3	4	2	4	3	0	0			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr19:56703238G>C	ENST00000586855.2	-	3	882	c.569C>G	c.(568-570)gCt>gGt	p.A190G	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.A190G			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	190					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGACAGTGCAGCGACCCTGGG	0.622													6	31					0	0	0	0	C	56703238	G	C	56703238	3	2	175	1	0	0	0	0	1	0	0	0	18330	971	34	4	930	4	ZSCAN5B	19	56703238	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08	52018526	56703238	2425745	51	30772											
DSN1	79980	broad.mit.edu	37	chr20	35399490	35399490	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattctttcctctgaaacGccttgattcatctccaggga	9	14	7	11	1	4	3	1	3	3	0	6	4	5	4	3	1	1	0	3	1	2	4	rs139234953		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr20:35399490G>A	ENST00000426836.1	-	3	513	c.141C>T	c.(139-141)ggC>ggT	p.G47G	DSN1_ENST00000448110.1_Silent_p.G31G|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373745.3_Silent_p.G47G|DSN1_ENST00000373750.4_Silent_p.G47G	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	47					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				CCTCTGAAACGCCTTGATTCA	0.448													53	205					0	0	0	0	A	35399490	G	A	35399490	2	1	175	1	0	0	0	0	0	0	0	1	4816	1074	38	1		1	DSN1	20	35399490	Silent	SNP	G	TCGA-CR-6467-01A-11D-1870-08		35399490	27626030	52	30773											
MC3R	4159	broad.mit.edu	37	chr20	54823948	54823948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagccaacactgcctaatGgctcggagcacctccaagcc	10	7	8	16	1	1	0	1	0	0	0	3	1	2	1	5	2	5	2	5	2	3	2			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr20:54823948G>A	ENST00000243911.2	+	1	161	c.49G>A	c.(49-51)Ggc>Agc	p.G17S		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	54					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ACTGCCTAATGGCTCGGAGCA	0.582													56	153					0	0	0	0	A	54823948	G	A	54823948	3	1	175	1	0	0	0	0	1	0	0	0	9434	1348	47	4	51	4	MC3R	20	54823948	Missense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08	19424458	54823948	8201572	53	30774											
LSS	4047	broad.mit.edu	37	chr21	47626627	47626627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagctccagcaagtgccccCcacgcttggtctcataggtg	7	8	11	15	1	1	0	1	0	1	0	3	0	2	0	4	2	3	4	4	2	2	2			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr21:47626627C>T	ENST00000397728.3	-	16	1601	c.1523G>A	c.(1522-1524)gGg>gAg	p.G508E	LSS_ENST00000457828.2_Missense_Mutation_p.G428E|LSS_ENST00000356396.4_Missense_Mutation_p.G508E|LSS_ENST00000522411.1_Missense_Mutation_p.G497E	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	508					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CAAGTGCCCCCCACGCTTGGT	0.602													20	56					0	0	0	0	T	47626627	C	T	47626627	3	4	175	1	0	0	0	0	1	0	0	0	9129	623	22	4	703	4	LSS	21	47626627	Missense_Mutation	SNP	C	TCGA-CR-6467-01A-11D-1870-08		47626627	503268	54	30775											
RIMBP3	85376	broad.mit.edu	37	chr22	20458538	20458538	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccagagcttcatcctGccccgctgggagttgactgg	5	11	11	14	1	1	2	1	1	0	1	4	3	4	3	5	2	2	3	5	2	0	3			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr22:20458538G>A	ENST00000426804.1	-	1	3248	c.2764C>T	c.(2764-2766)Cag>Tag	p.Q922*		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GCTTCATCCTGCCCCGCTGGG	0.597													10	34					0	0	0	0	A	20458538	G	A	20458538	4	1	175	1	0	0	0	0	0	1	0	0	13447	1328	46	4	2159	4	RIMBP3	22	20458538	Nonsense_Mutation	SNP	G	TCGA-CR-6467-01A-11D-1870-08		20458538	30846028	55	30776											
LAPTM5	7805	broad.mit.edu	37	chr1	31212769	31212769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggacaggaagggcagcaGgtacttctcccggttctgaa	10	7	14	10	1	2	1	0	1	2	0	3	3	2	3	1	5	2	4	1	5	3	3			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:31212769G>A	ENST00000294507.3	-	4	348	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	92					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AAGGGCAGCAGGTACTTCTCC	0.592													9	17					0	0	0	0	A	31212769	G	A	31212769	2	1	176	1	0	0	0	0	0	0	0	1	8679	991	35	4		4	LAPTM5	1	31212769	Silent	SNP	G	TCGA-CR-6470-01A-11D-1870-08		31212769	218037852	1	30777											
MACF1	23499	broad.mit.edu	37	chr1	39749133	39749133	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaatcacttatgtgtcttcGatttatgatgccttccctaa	9	17	6	9	1	2	1	1	1	1	0	4	2	3	1	2	0	1	1	2	0	4	7	rs150686066		TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:39749133G>A	ENST00000564288.1	+	9	1638	c.861G>A	c.(859-861)tcG>tcA	p.S287S	MACF1_ENST00000317713.7_Silent_p.S292S|MACF1_ENST00000372915.3_Silent_p.S292S|MACF1_ENST00000545844.1_Silent_p.S292S|MACF1_ENST00000361689.2_Silent_p.S292S|MACF1_ENST00000567887.1_Silent_p.S324S|MACF1_ENST00000539005.1_Silent_p.S292S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	292	Actin-binding.|CH 2.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.S292S(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGTGTCTTCGATTTATGATG	0.408													16	48					0	0	0	0	A	39749133	G	A	39749133	2	1	176	1	0	0	0	0	0	0	0	1	9209	1045	37	1		1	MACF1	1	39749133	Silent	SNP	G	TCGA-CR-6470-01A-11D-1870-08	8536364	39749133	209501488	2	30778											
IPO13	9670	broad.mit.edu	37	chr1	44433110	44433117	+	Frame_Shift_Del	DEL	TTCCCCTC	TTCCCCTC	-																															aggccctgcagccacctggtTtcccctctgcccgcctcagc																										TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:44433110_44433117delTTCCCCTC	ENST00000372343.3	+	19	3399_3406	c.2737_2744delTTCCCCTC	c.(2737-2745)tfs	p.FPS913fs	IPO13_ENST00000372339.3_Frame_Shift_Del_p.FPS131fs	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	913					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCCACCTGGTTTCCCCTCTGCCCGCCTC	0.615													20	55	---	---	---	---					-	44433117	TTCCCCTC	-	44433110	7	5	176	1	0	1	0	1	0	0	0	0	7847	1841	64	0	2811	0	IPO13	1	44433110	Frame_Shift_Del	DEL	TTCCCCTC	TCGA-CR-6470-01A-11D-1870-08	4683977	44433110	204817511	3	30779											
CYP4A22	284541	broad.mit.edu	37	chr1	47609516	47609516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatgcctttcatgagaatGacaccatctacagcctgacc	12	9	8	12	0	2	3	1	3	1	1	2	5	2	4	4	1	3	0	4	1	3	2	rs143425502	byFrequency	TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:47609516G>A	ENST00000371891.3	+	6	749	c.718G>A	c.(718-720)Gac>Aac	p.D240N	CYP4A22_ENST00000371890.3_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.D240N|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	240						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATGAGAATGACACCATCTA	0.537													31	87					0	0	0	0	A	47609516	G	A	47609516	3	1	176	1	0	0	0	0	1	0	0	0	4216	1290	45	2	740	2	CYP4A22	1	47609516	Missense_Mutation	SNP	G	TCGA-CR-6470-01A-11D-1870-08	3176406	47609516	201641105	4	30780											
SLC44A5	204962	broad.mit.edu	37	chr1	75685020	75685020	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatacaggtacccccgatgtCgccaagaaactgaataaact	15	8	7	11	2	0	2	0	1	0	1	1	3	0	2	3	1	4	1	3	1	8	4			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:75685020C>T	ENST00000370855.5	-	16	1301	c.1188G>A	c.(1186-1188)gcG>gcA	p.A396A	SLC44A5_ENST00000370859.3_Silent_p.A396A|SLC44A5_ENST00000535611.1_Silent_p.A266A	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	396						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A396A(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCCCCGATGTCGCCAAGAAAC	0.393													6	33					0	0	0	0	T	75685020	C	T	75685020	2	4	176	1	0	0	0	0	0	0	0	1	14727	871	31	1		1	SLC44A5	1	75685020	Silent	SNP	C	TCGA-CR-6470-01A-11D-1870-08	28075504	75685020	173565601	5	30781											
BCAR3	8412	broad.mit.edu	37	chr1	94140372	94140372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacatcttgataggcatctgGgcgatgctcagcgagagggg	9	8	15	9	2	3	2	1	1	2	1	3	4	3	2	0	4	2	2	0	4	1	2			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:94140372G>A	ENST00000370244.1	-	4	403	c.115C>T	c.(115-117)Cca>Tca	p.P39S	BCAR3_ENST00000260502.6_Missense_Mutation_p.P39S|BCAR3_ENST00000370243.1_Missense_Mutation_p.P39S	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	39					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TAGGCATCTGGGCGATGCTCA	0.537													9	49					0	0	0	0	A	94140372	G	A	94140372	3	1	176	1	0	0	0	0	1	0	0	0	1353	1232	43	4	2406	4	BCAR3	1	94140372	Missense_Mutation	SNP	G	TCGA-CR-6470-01A-11D-1870-08	18455352	94140372	155110249	6	30782											
FNDC7	163479	broad.mit.edu	37	chr1	109271297	109271297	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtttcaagggatgcattCtccatgattaatgtgcactg	11	14	9	7	0	2	1	1	1	1	0	3	2	2	2	1	1	2	3	1	1	3	3			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:109271297C>T	ENST00000370017.3	+	8	1690	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	FNDC7_ENST00000271311.2_Silent_p.F472F	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	472	Fibronectin type-III 6.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GGGATGCATTCTCCATGATTA	0.428													14	59					0	0	0	0	T	109271297	C	T	109271297	2	4	176	1	0	0	0	0	0	0	0	1	6018	912	32	2		2	FNDC7	1	109271297	Silent	SNP	C	TCGA-CR-6470-01A-11D-1870-08	15130925	109271297	139979324	7	30783											
NID1	4811	broad.mit.edu	37	chr1	236195924	236195924	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaaagatccttcctttCaccttgccattgactcgctg	8	12	5	16	1	1	2	1	1	0	1	4	2	3	2	5	0	1	1	5	0	1	4			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:236195924C>A	ENST00000264187.6	-	6	1396	c.1314G>T	c.(1312-1314)gtG>gtT	p.V438V	NID1_ENST00000366595.3_Silent_p.V438V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	438	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCCTTCCTTTCACCTTGCCAT	0.478													9	40					1.12685e-05	1.22075e-05	1	0	A	236195924	C	A	236195924	2	1	176	1	0	0	0	0	0	0	0	1	10484	813	29	2		2	NID1	1	236195924	Silent	SNP	C	TCGA-CR-6470-01A-11D-1870-08	126924627	236195924	13054697	8	30784											
HEATR1	55127	broad.mit.edu	37	chr1	236766584	236766584	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctttggtctgaacacttcGctccaaggtttttgctagct	6	16	9	10	1	1	1	0	1	1	0	3	1	2	1	1	2	4	5	1	2	3	5			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:236766584G>A	ENST00000366582.3	-	3	349	c.235C>T	c.(235-237)Cga>Tga	p.R79*	HEATR1_ENST00000366579.1_Nonsense_Mutation_p.R79*|HEATR1_ENST00000366581.2_Nonsense_Mutation_p.R79*	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	79					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGAACACTTCGCTCCAAGGTT	0.418													11	64					0	0	0	0	A	236766584	G	A	236766584	4	1	176	1	0	0	0	0	0	1	0	0	7077	1095	38	1	6371	1	HEATR1	1	236766584	Nonsense_Mutation	SNP	G	TCGA-CR-6470-01A-11D-1870-08	570660	236766584	12484037	9	30785											
NCAPH	23397	broad.mit.edu	37	chr2	97019076	97019076	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgcagaagatcgccagAtctgcccttccctggccggg	7	8	13	13	2	1	3	0	0	1	3	3	3	2	3	4	2	2	1	4	2	1	1			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr2:97019076A>T	ENST00000455200.1	+	8	1205	c.910A>T	c.(910-912)Atc>Ttc	p.I304F	NCAPH_ENST00000240423.4_Missense_Mutation_p.I315F|NCAPH_ENST00000427946.1_Missense_Mutation_p.I179F			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	315					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AGATCGCCAGATCTGCCCTTC	0.502													16	36					0	0	0	0	T	97019076	A	T	97019076	3	4	176	1	0	0	0	0	1	0	0	0	10279	333	12	5	973	5	NCAPH	2	97019076	Missense_Mutation	SNP	A	TCGA-CR-6470-01A-11D-1870-08		97019076	146180297	10	30786											
SCN3A	6328	broad.mit.edu	37	chr2	165997340	165997340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgctctccatgtctgtgcgGcacaaacagtgagtctctcc	7	11	9	14	2	3	1	0	1	3	0	7	1	4	1	2	1	2	2	2	1	1	0			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr2:165997340G>A	ENST00000360093.3	-	13	2331	c.1840C>T	c.(1840-1842)Ccg>Tcg	p.P614S	SCN3A_ENST00000283254.7_Missense_Mutation_p.P614S|SCN3A_ENST00000409101.3_Missense_Mutation_p.P614S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	614						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGTCTGTGCGGCACAAACAGT	0.507													4	59					0	0	0	0	A	165997340	G	A	165997340	3	1	176	1	0	0	0	0	1	0	0	0	14005	1203	42	4	4226	4	SCN3A	2	165997340	Missense_Mutation	SNP	G	TCGA-CR-6470-01A-11D-1870-08	68978264	165997340	77202033	11	30787											
SCN7A	6332	broad.mit.edu	37	chr2	167273486	167273486	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgttttgatcaaagctcTcacaaccacctggtatatat	11	14	7	9	0	2	1	2	1	1	0	3	1	2	1	2	2	2	4	2	2	5	6			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr2:167273486T>C	ENST00000409855.1	-	20	3271	c.3145A>G	c.(3145-3147)Aga>Gga	p.R1049G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1049					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATCAAAGCTCTCACAACCACC	0.323													4	15					0	0	0	0	C	167273486	T	C	167273486	3	2	176	1	0	0	0	0	1	0	0	0	14010	1559	54	5	1927	5	SCN7A	2	167273486	Missense_Mutation	SNP	T	TCGA-CR-6470-01A-11D-1870-08	1276146	167273486	75925887	12	30788											
TTN	7273	broad.mit.edu	37	chr2	179597035	179597035	+	Frame_Shift_Del	DEL	A	A	-																															tggcatctcccttctttaacAgctgtgatggctctaacttt																										TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr2:179597035delA	ENST00000589042.1	-	57	16885	c.16661delT	c.(16660-16662)cgfs	p.L5555fs	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.L5238fs|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.L4311fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5238	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTTTAACAGCTGTGATGG	0.393													38	155	---	---	---	---					-	179597035	A	-	179597035	7	5	176	1	0	1	0	1	0	0	0	0	16831	188	7	0	88092	0	TTN	2	179597035	Frame_Shift_Del	DEL	A	TCGA-CR-6470-01A-11D-1870-08	12323549	179597035	63602338	13	30789											
TTN	7273	broad.mit.edu	37	chr2	179598097	179598097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattgtttttaaaacttattCggtattttttactggcgacc	9	19	6	7	2	0	0	0	0	0	0	1	1	0	0	1	2	2	2	1	2	5	10	rs146847928	by1000genomes	TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr2:179598097C>T	ENST00000589042.1	-	54	16147	c.15923G>A	c.(15922-15924)cGa>cAa	p.R5308Q	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R4991Q|TTN_ENST00000342992.6_Missense_Mutation_p.R4064Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4991	Ig-like 33.						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)			AAAACTTATTCGGTATTTTTT	0.473													28	89					0	0	0	0	T	179598097	C	T	179598097	3	4	176	1	0	0	0	0	1	0	0	0	16831	884	31	1	88842	1	TTN	2	179598097	Missense_Mutation	SNP	C	TCGA-CR-6470-01A-11D-1870-08	1062	179598097	63601276	14	30790											
PFN2	5217	broad.mit.edu	37	chr3	149684321	149684321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgccattgagtatgccttCttattcaatccgcctccatg	7	16	6	12	1	2	1	1	1	1	0	4	1	4	1	5	0	2	1	5	0	3	6			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr3:149684321C>T	ENST00000239940.7	-	3	630	c.378G>A	c.(376-378)aaG>aaA	p.K126K	PFN2_ENST00000475518.1_Silent_p.K77K|PFN2_ENST00000498307.1_Silent_p.K77K|PFN2_ENST00000497148.1_Silent_p.K77K|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000490975.1_Silent_p.K111K|PFN2_ENST00000489155.1_Silent_p.K77K|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000481275.1_Silent_p.K77K|PFN2_ENST00000423691.2_Intron			P35080	PROF2_HUMAN	profilin 2	126					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGTATGCCTTCTTATTCAATC	0.393													13	729					0	0	0	0	T	149684321	C	T	149684321	2	4	176	1	0	0	0	0	0	0	0	1	11840	912	32	2		2	PFN2	3	149684321	Silent	SNP	C	TCGA-CR-6470-01A-11D-1870-08		149684321	48338109	15	30791											
ECT2	1894	broad.mit.edu	37	chr3	172501696	172501696	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagatttcatgcttttctCaaggtaatgtgtgtttcttt	8	19	7	7	0	3	1	2	0	2	1	4	1	3	1	1	1	1	3	1	1	3	6			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr3:172501696C>T	ENST00000417960.1	+	16	2106	c.1629C>T	c.(1627-1629)ctC>ctT	p.L543L	ECT2_ENST00000427830.1_Silent_p.L544L|ECT2_ENST00000392692.3_Silent_p.L575L|ECT2_ENST00000540509.1_Silent_p.L575L|ECT2_ENST00000441497.2_Silent_p.L544L|ECT2_ENST00000232458.5_Silent_p.L544L	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	544	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATGCTTTTCTCAAGGTAATGT	0.269													12	156					0	0	0	0	T	172501696	C	T	172501696	2	4	176	1	0	0	0	0	0	0	0	1	4937	813	29	2		2	ECT2	3	172501696	Silent	SNP	C	TCGA-CR-6470-01A-11D-1870-08	22817375	172501696	25520734	16	30792											
SULT1B1	27284	broad.mit.edu	37	chr4	70615521	70615521	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggggtgatggattcttcTccaattgttctatacctgag	7	15	10	9	1	3	2	0	2	3	0	5	3	4	3	3	3	1	1	3	3	3	6			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr4:70615521T>C	ENST00000310613.2	-	4	590	c.293A>G	c.(292-294)gAg>gGg	p.E98G		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	98					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TGGATTCTTCTCCAATTGTTC	0.383													17	72					0	0	0	0	C	70615521	T	C	70615521	3	2	176	1	0	0	0	0	1	0	0	0	15466	1551	54	5	617	5	SULT1B1	4	70615521	Missense_Mutation	SNP	T	TCGA-CR-6470-01A-11D-1870-08		70615521	120538755	17	30793											
HIST1H4D	8360	broad.mit.edu	37	chr6	26189157	26189157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtttcctcataaatgaGgccagaaatacgcttgacgc	12	9	10	10	3	1	3	1	2	0	1	2	4	2	3	2	1	1	2	2	1	4	4			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr6:26189157G>A	ENST00000340756.2	-	1	147	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	50					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TCATAAATGAGGCCAGAAATA	0.542													23	60					0	0	0	0	A	26189157	G	A	26189157	3	1	176	1	0	0	0	0	1	0	0	0	7218	1000	35	4	167	4	HIST1H4D	6	26189157	Missense_Mutation	SNP	G	TCGA-CR-6470-01A-11D-1870-08		26189157	144925910	18	30794											
TRDN	10345	broad.mit.edu	37	chr6	123869615	123869615	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacctttatcagtatcttcGtcaccatcatcatcttcttc	8	17	3	13	1	7	0	4	0	3	0	9	0	7	0	2	0	1	2	2	0	3	7			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr6:123869615G>A	ENST00000334268.4	-	3	692	c.375C>T	c.(373-375)gaC>gaT	p.D125D	TRDN_ENST00000546248.1_Silent_p.D125D|TRDN_ENST00000398178.3_Silent_p.D125D|TRDN_ENST00000542443.1_Silent_p.D125D			Q13061	TRDN_HUMAN	triadin	125					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CAGTATCTTCGTCACCATCAT	0.363													4	13					0	0	0	0	A	123869615	G	A	123869615	2	1	176	1	0	0	0	0	0	0	0	1	16563	1136	40	1		1	TRDN	6	123869615	Silent	SNP	G	TCGA-CR-6470-01A-11D-1870-08	97680458	123869615	47245452	19	30795											
LFNG	3955	broad.mit.edu	37	chr7	2565945	2565945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcaccatcggctacatcGtggaggccctgctgggtgtg	6	9	14	12	2	0	0	0	0	0	0	2	1	0	1	2	4	3	3	2	4	1	1			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr7:2565945G>A	ENST00000222725.5	+	6	909	c.889G>A	c.(889-891)Gtg>Atg	p.V297M	LFNG_ENST00000359574.3_Missense_Mutation_p.V297M|LFNG_ENST00000402045.1_Missense_Mutation_p.V168M|LFNG_ENST00000402506.1_Missense_Mutation_p.V226M|LFNG_ENST00000338732.3_Missense_Mutation_p.V168M	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	297					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CGGCTACATCGTGGAGGCCCT	0.657													20	65					0	0	0	0	A	2565945	G	A	2565945	3	1	176	1	0	0	0	0	1	0	0	0	8790	1145	40	1	1187	1	LFNG	7	2565945	Missense_Mutation	SNP	G	TCGA-CR-6470-01A-11D-1870-08		2565945	156572718	20	30796											
ADCY1	107	broad.mit.edu	37	chr7	45743232	45743232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctactcccaggtgggcGtcatgtttgcctccatcccc	5	11	9	16	1	1	0	1	0	0	0	5	0	5	0	6	2	2	1	6	2	1	2			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr7:45743232G>A	ENST00000297323.7	+	16	2627	c.2605G>A	c.(2605-2607)Gtc>Atc	p.V869I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	869					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CCAGGTGGGCGTCATGTTTGC	0.572													17	66					0	0	0	0	A	45743232	G	A	45743232	3	1	176	1	0	0	0	0	1	0	0	0	292	1145	40	1	2667	1	ADCY1	7	45743232	Missense_Mutation	SNP	G	TCGA-CR-6470-01A-11D-1870-08	43177287	45743232	113395431	21	30797											
CYP51A1	1595	broad.mit.edu	37	chr7	91758200	91758200	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagtgtcacctactggattAggcacatcgtatgcaactcc	11	10	8	12	1	1	0	1	0	0	0	3	1	2	1	2	2	3	3	2	2	4	3			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr7:91758200A>G	ENST00000003100.8	-	3	627	c.462T>C	c.(460-462)ccT>ccC	p.P154P	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Silent_p.P49P	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	148					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTACTGGATTAGGCACATCGT	0.373													3	184					0	0	0	0	G	91758200	A	G	91758200	2	3	176	1	0	0	0	0	0	0	0	1	4227	407	15	5		5	CYP51A1	7	91758200	Silent	SNP	A	TCGA-CR-6470-01A-11D-1870-08	46014968	91758200	67380463	22	30798											
EXOC4	60412	broad.mit.edu	37	chr7	133689777	133689777	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtcaagctcaacaaagatAtcagcgccattgaagaggcc	14	7	10	10	1	3	3	3	1	0	2	3	3	3	3	2	2	3	1	2	2	5	2			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr7:133689777A>G	ENST00000253861.4	+	16	2490	c.2461A>G	c.(2461-2463)Atc>Gtc	p.I821V	EXOC4_ENST00000541309.1_Missense_Mutation_p.I109V|EXOC4_ENST00000545148.1_Missense_Mutation_p.I431V|EXOC4_ENST00000539845.1_Missense_Mutation_p.I720V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	821					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CAACAAAGATATCAGCGCCAT	0.498													3	133					0	0	0	0	G	133689777	A	G	133689777	3	3	176	1	0	0	0	0	1	0	0	0	5343	449	16	5	2532	5	EXOC4	7	133689777	Missense_Mutation	SNP	A	TCGA-CR-6470-01A-11D-1870-08	41931577	133689777	25448886	23	30799											
SVIL	6840	broad.mit.edu	37	chr10	29801693	29801693	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggaccgccctgcttcctGggtgtgcaggctgctggccg	3	8	17	13	2	0	0	0	0	0	0	1	2	1	1	4	4	3	4	4	4	0	1			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr10:29801693G>A	ENST00000375398.2	-	19	3936	c.3487C>T	c.(3487-3489)Cag>Tag	p.Q1163*	SVIL_ENST00000535393.1_Nonsense_Mutation_p.Q61*|SVIL_ENST00000375400.3_Nonsense_Mutation_p.Q737*|SVIL_ENST00000355867.4_Nonsense_Mutation_p.Q1163*			O95425	SVIL_HUMAN	supervillin	1163					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCTGCTTCCTGGGTGTGCAGG	0.542											OREG0020097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	67					0	0	0	0	A	29801693	G	A	29801693	4	1	176	1	0	0	0	0	0	1	0	0	15511	1357	47	4	3245	4	SVIL	10	29801693	Nonsense_Mutation	SNP	G	TCGA-CR-6470-01A-11D-1870-08		29801693	105733054	24	30800											
NRP1	8829	broad.mit.edu	37	chr10	33474639	33474639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtttccttttccgatttcgCcctcgaaaatcacctaacaa	10	13	5	13	3	1	0	1	0	0	0	5	2	3	0	4	1	1	1	4	1	4	5			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr10:33474639C>T	ENST00000265371.4	-	16	2873	c.2348G>A	c.(2347-2349)gGc>gAc	p.G783D	NRP1_ENST00000395995.1_Missense_Mutation_p.G783D|NRP1_ENST00000374867.2_Missense_Mutation_p.G783D			O14786	NRP1_HUMAN	neuropilin 1	783	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCCGATTTCGCCCTCGAAAAT	0.403													3	43					0	0	0	0	T	33474639	C	T	33474639	3	4	176	1	0	0	0	0	1	0	0	0	10731	739	26	4	435	4	NRP1	10	33474639	Missense_Mutation	SNP	C	TCGA-CR-6470-01A-11D-1870-08	3672946	33474639	102060108	25	30801											
FAM53B	9679	broad.mit.edu	37	chr10	126312097	126312097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggtgttgctgacgtggCgggcgaaggggctctgggga	4	8	20	9	3	1	1	0	1	1	0	1	3	1	2	1	7	1	3	1	7	1	1			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr10:126312097C>T	ENST00000337318.3	-	5	1194	c.983G>A	c.(982-984)cGc>cAc	p.R328H	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.R328H	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	328										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GCTGACGTGGCGGGCGAAGGG	0.697													7	5					0	0	0	0	T	126312097	C	T	126312097	3	4	176	1	0	0	0	0	1	0	0	0	5627	768	27	1	289	1	FAM53B	10	126312097	Missense_Mutation	SNP	C	TCGA-CR-6470-01A-11D-1870-08	92837458	126312097	9222650	26	30802											
SLC25A22	79751	broad.mit.edu	37	chr11	792587	792587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagtcccttgtagagacCggcaatgccacggctccgca	8	6	11	16	4	0	1	0	0	0	1	2	3	2	1	5	2	1	4	5	2	2	2			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr11:792587C>T	ENST00000320230.5	-	7	1034	c.553G>A	c.(553-555)Ggt>Agt	p.G185S	SLC25A22_ENST00000531214.1_Missense_Mutation_p.G185S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	185						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	TTGTAGAGACCGGCAATGCCA	0.736													7	18					0	0	0	0	T	792587	C	T	792587	3	4	176	1	0	0	0	0	1	0	0	0	14573	652	23	1	434	1	SLC25A22	11	792587	Missense_Mutation	SNP	C	TCGA-CR-6470-01A-11D-1870-08		792587	134213929	27	30803											
PTPRJ	5795	broad.mit.edu	37	chr11	48145371	48145371	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaacatcaacccgtatcttCtacaatcaaataagacaaag	19	8	3	11	1	4	1	2	0	2	1	4	1	4	1	1	0	3	1	1	0	8	4			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr11:48145371C>G	ENST00000418331.2	+	5	1175	c.823C>G	c.(823-825)Cta>Gta	p.L275V	PTPRJ_ENST00000440289.2_Missense_Mutation_p.L275V	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	275	Fibronectin type-III 2.|Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCCGTATCTTCTACAATCAAA	0.473													24	63					0	0	0	0	G	48145371	C	G	48145371	3	3	176	1	0	0	0	0	1	0	0	0	12886	912	32	2	841	2	PTPRJ	11	48145371	Missense_Mutation	SNP	C	TCGA-CR-6470-01A-11D-1870-08	47352784	48145371	86861145	28	30804											
SPTBN2	6712	broad.mit.edu	37	chr11	66457726	66457726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtaggccttctggagcCggtggccgtcgtcctgcacc	4	8	14	15	4	1	0	0	0	1	0	3	1	2	1	5	4	3	2	5	4	1	2			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr11:66457726C>T	ENST00000533211.1	-	28	5925	c.5594G>A	c.(5593-5595)cGg>cAg	p.R1865Q	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1865Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1865Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1865					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTTCTGGAGCCGGTGGCCGTC	0.701													5	10					0	0	0	0	T	66457726	C	T	66457726	3	4	176	1	0	0	0	0	1	0	0	0	15210	652	23	1	1622	1	SPTBN2	11	66457726	Missense_Mutation	SNP	C	TCGA-CR-6470-01A-11D-1870-08	18312355	66457726	68548790	29	30805											
ERC1	23085	broad.mit.edu	37	chr12	1553834	1553834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaccccctgatcctccgtgGactcactccaccagcttcct	7	9	6	19	1	1	2	1	1	0	1	5	3	5	3	7	1	1	1	7	1	0	1			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr12:1553834G>A	ENST00000397203.2	+	18	3537	c.3131G>A	c.(3130-3132)gGa>gAa	p.G1044E	ERC1_ENST00000355446.5_Missense_Mutation_p.G1044E|ERC1_ENST00000360905.4_Missense_Mutation_p.G1044E|ERC1_ENST00000543086.3_Missense_Mutation_p.G1016E|ERC1_ENST00000589028.1_Missense_Mutation_p.G1044E|ERC1_ENST00000546231.2_Missense_Mutation_p.G1048E			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	1044					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ATCCTCCGTGGACTCACTCCA	0.522													29	95					0	0	0	0	A	1553834	G	A	1553834	3	1	176	1	0	0	0	0	1	0	0	0	5248	1174	41	2	3197	2	ERC1	12	1553834	Missense_Mutation	SNP	G	TCGA-CR-6470-01A-11D-1870-08		1553834	132298061	30	30806											
CTDSP2	10106	broad.mit.edu	37	chr12	58217826	58217826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacggaataggcgggccCggaacaccccacaccggtcc	10	3	11	17	4	1	0	1	0	0	0	2	2	2	2	5	5	1	0	5	5	3	1			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr12:58217826C>T	ENST00000398073.2	-	7	854	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	CTDSP2_ENST00000547701.1_Missense_Mutation_p.R32Q|CTDSP2_ENST00000548823.1_Intron	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	184	FCP1 homology.				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					TAGGCGGGCCCGGAACACCCC	0.587													4	28					0	0	0	0	T	58217826	C	T	58217826	3	4	176	1	0	0	0	0	1	0	0	0	4036	652	23	1	272	1	CTDSP2	12	58217826	Missense_Mutation	SNP	C	TCGA-CR-6470-01A-11D-1870-08	56663992	58217826	75634069	31	30807											
CATSPERB	79820	broad.mit.edu	37	chr14	92136312	92136312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggcaatggcagttttcCtgacctaggtaaacaaagaa	15	8	10	8	0	0	3	0	1	0	2	1	3	1	3	2	3	1	4	2	3	6	4			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr14:92136312C>T	ENST00000256343.3	-	14	1289	c.1133G>A	c.(1132-1134)aGg>aAg	p.R378K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	378					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GGCAGTTTTCCTGACCTAGGT	0.358													21	42					0	0	0	0	T	92136312	C	T	92136312	3	4	176	1	0	0	0	0	1	0	0	0	2716	681	24	4	2273	4	CATSPERB	14	92136312	Missense_Mutation	SNP	C	TCGA-CR-6470-01A-11D-1870-08		92136312	15213228	32	30808											
CYLD	1540	broad.mit.edu	37	chr16	50818266	50818266	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttagttctgttctggAcactgtgttacttagaccca	7	17	8	9	0	2	1	0	0	2	1	2	2	2	2	1	1	2	4	1	1	3	6			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr16:50818266A>C	ENST00000540145.1	+	12	2268	c.1853A>C	c.(1852-1854)gAc>gCc	p.D618A	CYLD_ENST00000398568.2_Missense_Mutation_p.D615A|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Missense_Mutation_p.D615A|CYLD_ENST00000568704.2_Missense_Mutation_p.D433A|CYLD_ENST00000566206.1_Missense_Mutation_p.D615A|CYLD_ENST00000427738.3_Missense_Mutation_p.D618A|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.D618A|CYLD_ENST00000564326.1_Missense_Mutation_p.D615A			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	618					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TCTGTTCTGGACACTGTGTTA	0.318			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				18	56					0	0	0	0	C	50818266	A	C	50818266	3	2	176	1	0	0	0	0	1	0	0	0	4175	275	10	5	1891	5	CYLD	16	50818266	Missense_Mutation	SNP	A	TCGA-CR-6470-01A-11D-1870-08		50818266	39536487	33	30809											
CCDC113	29070	broad.mit.edu	37	chr16	58287951	58287951	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaggtatggaccgtggggTaggcctgactgccgaccaaa	10	6	15	10	2	0	1	0	1	0	0	0	4	0	2	4	5	1	2	4	5	3	2			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr16:58287951T>C	ENST00000219299.4	+	3	357	c.278T>C	c.(277-279)gTa>gCa	p.V93A	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	93						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GACCGTGGGGTAGGCCTGACT	0.507													6	75					0	0	0	0	C	58287951	T	C	58287951	3	2	176	1	0	0	0	0	1	0	0	0	2775	1638	57	5	288	5	CCDC113	16	58287951	Missense_Mutation	SNP	T	TCGA-CR-6470-01A-11D-1870-08	7469685	58287951	32066802	34	30810											
RASL10B	91608	broad.mit.edu	37	chr17	34067531	34067531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtacgtcaagaccatccGccagcagatcctggagacga	12	6	11	12	3	1	4	1	1	0	3	3	6	3	4	4	1	2	2	4	1	2	1			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr17:34067531G>A	ENST00000268864.3	+	3	697	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	107	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGACCATCCGCCAGCAGATC	0.577													21	43					0	0	0	0	A	34067531	G	A	34067531	3	1	176	1	0	0	0	0	1	0	0	0	13162	1087	38	1	326	1	RASL10B	17	34067531	Missense_Mutation	SNP	G	TCGA-CR-6470-01A-11D-1870-08		34067531	47127679	35	30811											
HOXB3	3213	broad.mit.edu	37	chr17	46629478	46629478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtgagggtggagttggtgCcgggaccgcactttggggga	5	9	21	6	2	0	1	0	1	0	0	0	4	0	4	2	7	1	2	2	7	0	2			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr17:46629478C>T	ENST00000470495.1	-	1	1806	c.359G>A	c.(358-360)gGc>gAc	p.G120D	HOXB3_ENST00000489475.1_Missense_Mutation_p.G47D|HOXB3_ENST00000311626.4_Missense_Mutation_p.G120D|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000498678.1_Missense_Mutation_p.G120D|HOXB3_ENST00000476342.1_Missense_Mutation_p.G120D|HOXB3_ENST00000472863.1_Missense_Mutation_p.G47D|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000490677.1_Intron			P14651	HXB3_HUMAN	homeobox B3	120					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGAGTTGGTGCCGGGACCGCA	0.597													5	338					0	0	0	0	T	46629478	C	T	46629478	3	4	176	1	0	0	0	0	1	0	0	0	7352	739	26	4	944	4	HOXB3	17	46629478	Missense_Mutation	SNP	C	TCGA-CR-6470-01A-11D-1870-08	12561947	46629478	34565732	36	30812											
ABCA8	10351	broad.mit.edu	37	chr17	66898960	66898960	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggtgtaactgttttgataTattttcaccatggtatactc	10	17	7	7	0	1	1	1	1	0	0	2	1	1	1	1	2	2	3	1	2	5	9			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr17:66898960T>C	ENST00000269080.2	-	19	2675	c.2538A>G	c.(2536-2538)atA>atG	p.I846M	ABCA8_ENST00000586539.1_Missense_Mutation_p.I886M|ABCA8_ENST00000430352.2_Missense_Mutation_p.I886M	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	846						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGTTTTGATATATTTTCACCA	0.378													15	62					0	0	0	0	C	66898960	T	C	66898960	3	2	176	1	0	0	0	0	1	0	0	0	38	1396	49	5	2287	5	ABCA8	17	66898960	Missense_Mutation	SNP	T	TCGA-CR-6470-01A-11D-1870-08	20269482	66898960	14296250	37	30813											
ZCCHC2	54877	broad.mit.edu	37	chr18	60241452	60241452	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccttaaactcacccaagtAtcagcatatttcttttatgc	11	15	3	12	0	3	0	2	0	1	0	4	0	4	0	2	0	3	2	2	0	6	6			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr18:60241452A>C	ENST00000269499.5	+	13	2556	c.2138A>C	c.(2137-2139)tAt>tCt	p.Y713S	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.Y392S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	713					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCACCCAAGTATCAGCATATT	0.443													46	178					0	0	0	0	C	60241452	A	C	60241452	3	2	176	1	0	0	0	0	1	0	0	0	17682	449	16	5	2188	5	ZCCHC2	18	60241452	Missense_Mutation	SNP	A	TCGA-CR-6470-01A-11D-1870-08		60241452	17835796	38	30814											
DAPK3	1613	broad.mit.edu	37	chr19	3964913	3964913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggctggatgacaggcggcGcttcttgatgaacttggctg	6	10	15	10	3	1	3	0	3	1	0	1	4	1	4	1	5	1	3	1	5	1	3			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr19:3964913G>A	ENST00000545797.2	-	3	382	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	DAPK3_ENST00000301264.3_Missense_Mutation_p.R47C			O43293	DAPK3_HUMAN	death-associated protein kinase 3	47	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GACAGGCGGCGCTTCTTGATG	0.647													24	73					0	0	0	0	A	3964913	G	A	3964913	3	1	176	1	0	0	0	0	1	0	0	0	4270	1087	38	1	1253	1	DAPK3	19	3964913	Missense_Mutation	SNP	G	TCGA-CR-6470-01A-11D-1870-08		3964913	55164070	39	30815											
DNMT1	1786	broad.mit.edu	37	chr19	10249194	10249194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggagcaaacacgtgcagtgGctccgggaacagagggagct	11	4	17	9	2	0	1	0	0	0	1	1	4	1	4	1	4	5	4	1	4	2	0			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr19:10249194G>A	ENST00000340748.4	-	34	4223	c.3988C>T	c.(3988-3990)Cca>Tca	p.P1330S	DNMT1_ENST00000540357.1_Missense_Mutation_p.P1330S|DNMT1_ENST00000359526.4_Missense_Mutation_p.P1346S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1330	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ACGTGCAGTGGCTCCGGGAAC	0.652													12	57					0	0	0	0	A	10249194	G	A	10249194	3	1	176	1	0	0	0	0	1	0	0	0	4711	1203	42	4	890	4	DNMT1	19	10249194	Missense_Mutation	SNP	G	TCGA-CR-6470-01A-11D-1870-08	6284281	10249194	48879789	40	30816											
NOTCH3	4854	broad.mit.edu	37	chr19	15298078	15298078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctggcgatgccatccaCgcagcgaccatggtggcatg	9	6	14	12	3	0	0	0	0	0	0	1	3	1	0	3	3	3	3	3	3	1	0			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr19:15298078C>T	ENST00000263388.2	-	11	1753	c.1678G>A	c.(1678-1680)Gtg>Atg	p.V560M		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	560	EGF-like 14; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ATGCCATCCACGCAGCGACCA	0.662													10	36					0	0	0	0	T	15298078	C	T	15298078	3	4	176	1	0	0	0	0	1	0	0	0	10620	536	19	1	5379	1	NOTCH3	19	15298078	Missense_Mutation	SNP	C	TCGA-CR-6470-01A-11D-1870-08	5048884	15298078	43830905	41	30817											
APOL5	80831	broad.mit.edu	37	chr22	36122860	36122860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcttcatgcctaccagatgGccaaatccaactctggcttc	10	11	6	14	0	3	1	1	0	2	1	5	1	4	1	4	2	3	1	4	2	3	3			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr22:36122860G>A	ENST00000249044.2	+	3	745	c.745G>A	c.(745-747)Gcc>Acc	p.A249T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	249					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CTACCAGATGGCCAAATCCAA	0.483													4	207					0	0	0	0	A	36122860	G	A	36122860	3	1	176	1	0	0	0	0	1	0	0	0	811	1203	42	4	755	4	APOL5	22	36122860	Missense_Mutation	SNP	G	TCGA-CR-6470-01A-11D-1870-08		36122860	15181706	42	30818											
ENTHD1	150350	broad.mit.edu	37	chr22	40283603	40283603	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcatattcataatctctgaGagagaaattgtgttgaaagt	15	13	9	4	0	2	3	1	2	1	2	3	5	2	3	0	0	1	2	0	0	4	5			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr22:40283603G>C	ENST00000325157.6	-	2	400	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	50	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TAATCTCTGAGAGAGAAATTG	0.423													28	92					0	0	0	0	C	40283603	G	C	40283603	2	2	176	1	0	0	0	0	0	0	0	1	5175	929	33	2		2	ENTHD1	22	40283603	Silent	SNP	G	TCGA-CR-6470-01A-11D-1870-08	4160743	40283603	11020963	43	30819											
EP300	2033	broad.mit.edu	37	chr22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtatacatatcttacctcGatagtgttcatttcttccgt	9	17	6	9	2	3	0	1	0	2	0	5	2	4	0	2	0	2	2	2	0	5	8			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				21	77					0	0	0	0	A	41565529	G	A	41565529	3	1	176	1	0	0	0	0	1	0	0	0	5186	1058	37	1	4297	1	EP300	22	41565529	Missense_Mutation	SNP	G	TCGA-CR-6470-01A-11D-1870-08	1281926	41565529	9739037	44	30820											
BRWD3	254065	broad.mit.edu	37	chrX	79979296	79979296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaagcagcaaatgtccaTgagaatctgtgcaggcaaaa	18	6	9	8	0	1	1	0	1	1	1	2	2	2	1	1	1	3	4	1	1	6	0			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chrX:79979296T>C	ENST00000373275.4	-	16	1817	c.1601A>G	c.(1600-1602)cAt>cGt	p.H534R		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	534										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAAATGTCCATGAGAATCTGT	0.378													13	19					0	0	0	0	C	79979296	T	C	79979296	3	2	176	1	0	0	0	0	1	0	0	0	1534	1464	51	5	3911	5	BRWD3	23	79979296	Missense_Mutation	SNP	T	TCGA-CR-6470-01A-11D-1870-08		79979296	75291264	45	30821											
RAB40AL	282808	broad.mit.edu	37	chrX	102192947	102192947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctaagggcctgaatgccaGgatgatgcgaggcctctcct	8	8	14	11	1	1	2	0	2	1	0	2	4	1	3	4	4	2	1	4	4	2	1			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chrX:102192947G>A	ENST00000218249.5	+	1	748	c.701G>A	c.(700-702)aGg>aAg	p.R234K	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	234					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						CTGAATGCCAGGATGATGCGA	0.587													48	49					0	0	0	0	A	102192947	G	A	102192947	3	1	176	1	0	0	0	0	1	0	0	0	13022	1000	35	4	703	4	RAB40AL	23	102192947	Missense_Mutation	SNP	G	TCGA-CR-6470-01A-11D-1870-08	22213651	102192947	53077613	46	30822											
EPHA8	2046	broad.mit.edu	37	chr1	22923821	22923821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagcacccccacctgtcttCctgcctctgcatcacccccc	5	9	4	23	0	4	0	2	0	2	0	5	0	5	0	8	0	3	2	8	0	0	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:22923821C>T	ENST00000166244.3	+	10	1854	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	594						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACCTGTCTTCCTGCCTCTGC	0.657													15	48					0	0	0	0	T	22923821	C	T	22923821	2	4	177	1	0	0	0	0	0	0	0	1	5211	854	30	2		2	EPHA8	1	22923821	Silent	SNP	C	TCGA-CR-6471-01A-11D-1870-08		22923821	226326800	1	30823											
ZBTB8A	653121	broad.mit.edu	37	chr1	33059296	33059296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattgatgctgaaatggactCtactcctgttggctatcagt	9	14	10	8	0	2	2	1	2	1	0	3	4	3	3	1	2	2	3	1	2	3	4			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:33059296C>T	ENST00000373510.4	+	3	993	c.764C>T	c.(763-765)tCt>tTt	p.S255F	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.S255F|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GAAATGGACTCTACTCCTGTT	0.438													16	45					0	0	0	0	T	33059296	C	T	33059296	3	4	177	1	0	0	0	0	1	0	0	0	17651	913	32	2	766	2	ZBTB8A	1	33059296	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	10135475	33059296	216191325	2	30824											
KIAA1522	57648	broad.mit.edu	37	chr1	33235677	33235677	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcgccacattgaccgtgtCtaccgggatgacacctttgt	8	10	10	13	3	1	2	0	2	1	0	1	3	1	3	4	1	2	0	4	1	1	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:33235677C>G	ENST00000401073.2	+	6	967	c.897C>G	c.(895-897)gtC>gtG	p.V299V	KIAA1522_ENST00000373480.1_Silent_p.V240V|KIAA1522_ENST00000373481.3_Silent_p.V251V|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	240										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TTGACCGTGTCTACCGGGATG	0.682													19	47					0	0	0	0	G	33235677	C	G	33235677	2	3	177	1	0	0	0	0	0	0	0	1	8289	900	32	2		2	KIAA1522	1	33235677	Silent	SNP	C	TCGA-CR-6471-01A-11D-1870-08	176381	33235677	216014944	3	30825											
MFSD2A	84879	broad.mit.edu	37	chr1	40424394	40424394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccctttctctgcctccAtcatcctgtttgtgggccga	3	14	10	14	1	2	0	1	0	1	0	5	1	4	0	5	2	1	1	5	2	0	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:40424394A>G	ENST00000372809.5	+	3	432	c.289A>G	c.(289-291)Atc>Gtc	p.I97V	MFSD2A_ENST00000372811.5_Missense_Mutation_p.I84V|MFSD2A_ENST00000420632.2_Intron	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	97					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTCTGCCTCCATCATCCTGTT	0.582													50	152					0	0	0	0	G	40424394	A	G	40424394	3	3	177	1	0	0	0	0	1	0	0	0	9599	217	8	5	299	5	MFSD2A	1	40424394	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08	7188717	40424394	208826227	4	30826											
CPT2	1376	broad.mit.edu	37	chr1	53675843	53675843	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccggtttctgaagacacTccgggctggccttctggagc	6	10	12	13	2	2	2	0	1	2	1	4	3	4	3	3	4	1	2	3	4	1	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:53675843T>A	ENST00000371486.3	+	4	1012	c.497T>A	c.(496-498)cTc>cAc	p.L166H		NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	166					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CTGAAGACACTCCGGGCTGGC	0.493													21	51					0	0	0	0	A	53675843	T	A	53675843	3	1	177	1	0	0	0	0	1	0	0	0	3864	1551	54	5	511	5	CPT2	1	53675843	Missense_Mutation	SNP	T	TCGA-CR-6471-01A-11D-1870-08	13251449	53675843	195574778	5	30827											
IGSF3	3321	broad.mit.edu	37	chr1	117142910	117142910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgatacactgcaagtcaaagGagtcgctgtaggtcaccccc	11	8	10	12	1	2	1	2	1	0	0	3	2	2	2	2	2	2	3	2	2	4	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:117142910G>C	ENST00000369486.3	-	7	2447	c.1682C>G	c.(1681-1683)tCc>tGc	p.S561C	IGSF3_ENST00000318837.6_Missense_Mutation_p.S581C|IGSF3_ENST00000369483.1_Missense_Mutation_p.S581C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	561	Ig-like C2-type 5.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CAAGTCAAAGGAGTCGCTGTA	0.592													18	68					0	0	0	0	C	117142910	G	C	117142910	3	2	177	1	0	0	0	0	1	0	0	0	7654	1174	41	2	1922	2	IGSF3	1	117142910	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	63467067	117142910	132107711	6	30828											
PDE4DIP	9659	broad.mit.edu	37	chr1	144859816	144859816	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggaagttctggttaaTggaggaggggctgaggctgg	7	9	21	4	0	1	1	0	1	1	0	1	4	1	4	0	9	0	5	0	9	2	2	rs72063878		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:144859816T>C	ENST00000369359.4	-	41	6714	c.6676A>G	c.(6676-6678)Att>Gtt	p.I2226V	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I1984V|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.I2090V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I2090V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I2175V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2090					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCTGGTTAATGGAGGAGGGG	0.577			T	PDGFRB	MPD								6	98					0	0	0	0	C	144859816	T	C	144859816	3	2	177	1	0	0	0	0	1	0	0	0	11714	1464	51	5	800	5	PDE4DIP	1	144859816	Missense_Mutation	SNP	T	TCGA-CR-6471-01A-11D-1870-08	27716906	144859816	104390805	7	30829											
PDE4DIP	9659	broad.mit.edu	37	chr1	144931233	144931233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgggtcggtttccagggCcttctgaaccatggcagctg	5	11	13	12	1	1	1	0	1	1	0	4	1	3	1	4	4	2	3	4	4	1	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:144931233C>T	ENST00000529945.1	-	1	915	c.476G>A	c.(475-477)gGc>gAc	p.G159D	PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G159D|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTTCCAGGGCCTTCTGAACC	0.552			T	PDGFRB	MPD								22	159					0	0	0	0	T	144931233	C	T	144931233	3	4	177	1	0	0	0	0	1	0	0	0	11714	739	26	4	7223	4	PDE4DIP	1	144931233	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	71417	144931233	104319388	8	30830											
IGSF9	57549	broad.mit.edu	37	chr1	159907550	159907550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtccaggaagaacacgCggcactcgtaccagccctgg	9	5	13	14	3	0	1	0	0	0	1	2	2	1	2	3	4	3	3	3	4	3	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:159907550C>T	ENST00000368094.1	-	4	523	c.326G>A	c.(325-327)cGc>cAc	p.R109H	IGSF9_ENST00000361509.3_Missense_Mutation_p.R109H	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	109	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GAAGAACACGCGGCACTCGTA	0.602													18	60					0	0	0	0	T	159907550	C	T	159907550	3	4	177	1	0	0	0	0	1	0	0	0	7658	768	27	1	3285	1	IGSF9	1	159907550	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	14976317	159907550	89343071	9	30831											
DCAF6	55827	broad.mit.edu	37	chr1	168014380	168014380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgaagaaacatccaccaggGactctgctcttcaggacaca	14	7	8	12	0	3	2	1	1	2	1	4	4	4	4	2	2	2	1	2	2	2	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:168014380G>A	ENST00000367840.3	+	16	2267	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	DCAF6_ENST00000367843.3_Missense_Mutation_p.D668N|DCAF6_ENST00000312263.6_Missense_Mutation_p.D648N|DCAF6_ENST00000432587.2_Missense_Mutation_p.D694N	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	648					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						ATCCACCAGGGACTCTGCTCT	0.483													13	28					0	0	0	0	A	168014380	G	A	168014380	3	1	177	1	0	0	0	0	1	0	0	0	4307	1174	41	2	2060	2	DCAF6	1	168014380	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	8106830	168014380	81236241	10	30832											
CACNA1E	777	broad.mit.edu	37	chr1	181702754	181702754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcagctagacatgggcCgggtcatcagccagagcgag	10	6	15	10	2	2	2	2	0	0	2	2	3	2	2	2	2	4	2	2	2	1	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:181702754C>T	ENST00000526775.1	+	20	3238	c.3073C>T	c.(3073-3075)Cgg>Tgg	p.R1025W	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R651W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R995W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R976W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1025W|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1044W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1044W	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1044					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGACATGGGCCGGGTCATCAG	0.647													6	17					0	0	0	0	T	181702754	C	T	181702754	3	4	177	1	0	0	0	0	1	0	0	0	2567	643	23	1	3212	1	CACNA1E	1	181702754	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	13688374	181702754	67547867	11	30833											
KCNT2	343450	broad.mit.edu	37	chr1	196309633	196309633	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtagaattcataatgtatcGaggacctggattcagcaaaa	15	11	9	6	1	2	1	2	0	0	1	3	4	2	3	1	2	1	3	1	2	6	5			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:196309633G>A	ENST00000367433.5	-	16	1722	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R491*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.R541*|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.R152*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	541	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATAATGTATCGAGGACCTGGA	0.323													21	53					0	0	0	0	A	196309633	G	A	196309633	4	1	177	1	0	0	0	0	0	1	0	0	8145	1066	37	1	1838	1	KCNT2	1	196309633	Nonsense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	14606879	196309633	52940988	12	30834											
FAM71A	149647	broad.mit.edu	37	chr1	212799632	212799632	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacagagccaatagagaTgacaaaaaggagaaaggctg	19	3	12	7	0	0	4	0	1	0	3	0	6	0	4	2	2	2	1	2	2	5	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:212799632T>G	ENST00000294829.3	+	1	1844	c.1413T>G	c.(1411-1413)gaT>gaG	p.D471E	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	471										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CCAATAGAGATGACAAAAAGG	0.557													20	44					0	0	0	0	G	212799632	T	G	212799632	3	3	177	1	0	0	0	0	1	0	0	0	5653	1461	51	5	1415	5	FAM71A	1	212799632	Missense_Mutation	SNP	T	TCGA-CR-6471-01A-11D-1870-08	16489999	212799632	36450989	13	30835											
MARK1	4139	broad.mit.edu	37	chr1	220805593	220805593	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaaataaatgatgccttaAtaaatcagaagtatgatgaa	20	11	7	3	0	1	5	1	4	0	1	1	5	1	5	1	0	1	1	1	0	9	4			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:220805593A>G	ENST00000402574.1	+	11	1657	c.655A>G	c.(655-657)Ata>Gta	p.I219V	MARK1_ENST00000366917.4_Missense_Mutation_p.I354V|MARK1_ENST00000366918.4_Missense_Mutation_p.I332V	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	354	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGATGCCTTAATAAATCAGAA	0.299													70	218					0	0	0	0	G	220805593	A	G	220805593	3	3	177	1	0	0	0	0	1	0	0	0	9381	101	4	5	1102	5	MARK1	1	220805593	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08	8005961	220805593	28445028	14	30836											
SNAP47	116841	broad.mit.edu	37	chr1	227935613	227935613	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagttgagatcaagaaggAggcttcacattttatcttca	13	13	8	7	0	4	2	3	1	1	2	4	4	4	3	0	2	0	2	0	2	4	6			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:227935613A>T	ENST00000366759.4	+	2	725	c.311A>T	c.(310-312)gAg>gTg	p.E104V	SNAP47_ENST00000315781.5_Missense_Mutation_p.E104V|SNAP47_ENST00000366760.1_Intron	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	104						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATCAAGAAGGAGGCTTCACAT	0.527													20	48					0	0	0	0	T	227935613	A	T	227935613	3	4	177	1	0	0	0	0	1	0	0	0	14920	304	11	5	317	5	SNAP47	1	227935613	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08	7130020	227935613	21315008	15	30837											
EXO1	9156	broad.mit.edu	37	chr1	242020736	242020736	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaaagcgggaattgtgcaAgccataattacagaggactc	16	7	10	8	1	0	1	0	0	0	1	1	3	0	3	1	2	5	1	1	2	6	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:242020736A>G	ENST00000366548.3	+	7	1088	c.495A>G	c.(493-495)caA>caG	p.Q165Q	EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000348581.5_Silent_p.Q165Q|EXO1_ENST00000518483.1_Silent_p.Q165Q	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	165	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAATTGTGCAAGCCATAATTA	0.458								Editing and processing nucleases					20	59					0	0	0	0	G	242020736	A	G	242020736	2	3	177	1	0	0	0	0	0	0	0	1	5337	69	3	5		5	EXO1	1	242020736	Silent	SNP	A	TCGA-CR-6471-01A-11D-1870-08	14085123	242020736	7229885	16	30838											
OR2L13	284521	broad.mit.edu	37	chr1	248262997	248262997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcttcctgaccatggCgtgttctgaaggcttactcc	5	15	8	13	1	3	2	0	2	3	0	5	2	5	2	3	2	1	2	3	2	2	5			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:248262997C>T	ENST00000366478.2	+	3	657	c.320C>T	c.(319-321)gCg>gTg	p.A107V	OR2L13_ENST00000358120.2_Missense_Mutation_p.A107V	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.A107V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTGACCATGGCGTGTTCTGAA	0.517													66	224					0	0	0	0	T	248262997	C	T	248262997	3	4	177	1	0	0	0	0	1	0	0	0	11077	768	27	1	322	1	OR2L13	1	248262997	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	6242261	248262997	987624	17	30839											
RBKS	64080	broad.mit.edu	37	chr2	28081341	28081341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtcattgctccaagccgagCagcttggacacactggttgg	8	9	12	12	2	1	0	1	0	0	0	2	2	2	1	2	3	4	4	2	3	1	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:28081341C>A	ENST00000302188.3	-	2	939	c.187G>T	c.(187-189)Gct>Tct	p.A63S	RBKS_ENST00000444339.2_Missense_Mutation_p.A63S	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	63					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					CCAAGCCGAGCAGCTTGGACA	0.438													18	56					5.01169e-05	5.22161e-05	1	0	A	28081341	C	A	28081341	3	1	177	1	0	0	0	0	1	0	0	0	13190	710	25	4	809	4	RBKS	2	28081341	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08		28081341	215118032	18	30840											
XDH	7498	broad.mit.edu	37	chr2	31562418	31562418	+	Frame_Shift_Del	DEL	G	G	-																															agggacaccctgaactcaatGgggatgctgccaaatgccgg																										TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:31562418delG	ENST00000379416.3	-	34	3759	c.3711delC	c.(3709-3711)ccfs	p.P1237fs		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1237					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGAACTCAATGGGGATGCTGC	0.577													46	164	---	---	---	---					-	31562418	G	-	31562418	7	5	177	1	0	1	0	1	0	0	0	0	17522	1335	47	0	302	0	XDH	2	31562418	Frame_Shift_Del	DEL	G	TCGA-CR-6471-01A-11D-1870-08	3481077	31562418	211636955	19	30841											
LTBP1	4052	broad.mit.edu	37	chr2	33540271	33540271	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggagtgcctaaacacagAgggttctttccattgtgtct	9	12	12	8	0	2	1	0	0	2	1	3	2	3	2	2	3	2	1	2	3	2	4			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:33540271A>G	ENST00000404816.2	+	24	4018	c.3665A>G	c.(3664-3666)gAg>gGg	p.E1222G	LTBP1_ENST00000418533.2_Missense_Mutation_p.E896G|LTBP1_ENST00000390003.4_Missense_Mutation_p.E897G|LTBP1_ENST00000402934.1_Missense_Mutation_p.E843G|LTBP1_ENST00000404525.1_Missense_Mutation_p.E843G|LTBP1_ENST00000407925.1_Missense_Mutation_p.E896G|LTBP1_ENST00000272273.5_Missense_Mutation_p.E162G|LTBP1_ENST00000354476.3_Missense_Mutation_p.E1223G			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1222	EGF-like 12; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTAAACACAGAGGGTTCTTTC	0.408													11	44					0	0	0	0	G	33540271	A	G	33540271	3	3	177	1	0	0	0	0	1	0	0	0	9137	304	11	5	3814	5	LTBP1	2	33540271	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08	1977853	33540271	209659102	20	30842											
SLC3A1	6519	broad.mit.edu	37	chr2	44528282	44528282	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaggttgaccacggcataTgctctcatttcttcccaggc	8	12	8	13	1	2	1	1	1	2	0	4	1	3	1	2	3	2	3	2	3	2	5			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:44528282T>C	ENST00000410056.3	+	6	1152	c.1152T>C	c.(1150-1152)taT>taC	p.Y384Y	SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000409229.3_Intron|SLC3A1_ENST00000409387.1_Intron|SLC3A1_ENST00000260649.6_Intron|SLC3A1_ENST00000409741.1_Intron|SLC3A1_ENST00000409380.1_Intron			Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	386					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CCACGGCATATGCTCTCATTT	0.512													6	31					0	0	0	0	C	44528282	T	C	44528282	2	2	177	1	0	0	0	0	0	0	0	1	14714	1479	51	5		5	SLC3A1	2	44528282	Silent	SNP	T	TCGA-CR-6471-01A-11D-1870-08	10988011	44528282	198671091	21	30843											
DPP10	57628	broad.mit.edu	37	chr2	116503737	116503737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcacactttggagctcatgCcacctgacagctttaaatca	11	11	6	13	0	3	1	3	1	0	0	3	2	3	2	2	1	3	2	2	1	2	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:116503737C>T	ENST00000410059.1	+	10	1408	c.928C>T	c.(928-930)Cca>Tca	p.P310S	DPP10_ENST00000393147.2_Missense_Mutation_p.P314S|DPP10_ENST00000310323.8_Missense_Mutation_p.P303S|DPP10_ENST00000409163.1_Missense_Mutation_p.P260S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	310					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGAGCTCATGCCACCTGACAG	0.343													3	40					0	0	0	0	T	116503737	C	T	116503737	3	4	177	1	0	0	0	0	1	0	0	0	4763	739	26	4	1137	4	DPP10	2	116503737	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	71975455	116503737	126695636	22	30844											
ARHGAP15	55843	broad.mit.edu	37	chr2	143913112	143913112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacactgaattctacccGccaaggcacaggagctgtgc	12	6	11	12	1	1	1	0	1	1	0	1	3	1	3	2	3	4	2	2	3	4	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:143913112G>A	ENST00000409869.1	+	3	230	c.53G>A	c.(52-54)cGc>cAc	p.R18H	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.R18H			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	18					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AATTCTACCCGCCAAGGCACA	0.398													9	23					0	0	0	0	A	143913112	G	A	143913112	3	1	177	1	0	0	0	0	1	0	0	0	868	1087	38	1	55	1	ARHGAP15	2	143913112	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	27409375	143913112	99286261	23	30845											
SLC4A10	57282	broad.mit.edu	37	chr2	162696359	162696359	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatgatgacgaggaacacaTtcctcatgaccttttcacag	12	10	9	10	1	2	3	2	3	0	0	3	6	3	5	2	2	1	0	2	2	1	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:162696359T>A	ENST00000375514.5	+	5	658	c.371T>A	c.(370-372)aTt>aAt	p.I124N	SLC4A10_ENST00000272716.5_Missense_Mutation_p.I113N|SLC4A10_ENST00000415876.2_Missense_Mutation_p.I113N|SLC4A10_ENST00000535165.1_Missense_Mutation_p.I113N|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.I113N|SLC4A10_ENST00000446997.1_Missense_Mutation_p.I113N	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	113					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAGGAACACATTCCTCATGAC	0.438													19	57					0	0	0	0	A	162696359	T	A	162696359	3	1	177	1	0	0	0	0	1	0	0	0	14739	1493	52	5	437	5	SLC4A10	2	162696359	Missense_Mutation	SNP	T	TCGA-CR-6471-01A-11D-1870-08	18783247	162696359	80503014	24	30846											
OSBPL6	114880	broad.mit.edu	37	chr2	179197685	179197685	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaaattgtgagatcaccaAgagatgctagttttcacata	15	12	8	6	0	2	3	2	2	0	2	2	5	2	3	1	0	1	2	1	0	4	5			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:179197685A>T	ENST00000190611.4	+	8	950	c.574A>T	c.(574-576)Aga>Tga	p.R192*	OSBPL6_ENST00000392505.2_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000409045.3_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000359685.3_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000357080.4_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000409631.1_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000315022.2_Nonsense_Mutation_p.R171*	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	192					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GAGATCACCAAGAGATGCTAG	0.413													25	71					0	0	0	0	T	179197685	A	T	179197685	4	4	177	1	0	0	0	0	0	1	0	0	11352	64	3	5	639	5	OSBPL6	2	179197685	Nonsense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08	16501326	179197685	64001688	25	30847											
TTN	7273	broad.mit.edu	37	chr2	179473617	179473617	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttcaaatacaaagttgAttggtggtcccggtgtatct	10	15	9	7	1	3	1	1	1	2	0	4	1	4	1	1	3	1	2	1	3	5	6			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:179473617A>T	ENST00000589042.1	-	274	52345	c.52121T>A	c.(52120-52122)aTc>aAc	p.I17374N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I8309N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I15733N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I8434N|TTN_ENST00000342992.6_Missense_Mutation_p.I14806N|TTN_ENST00000342175.6_Missense_Mutation_p.I8501N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15733	Fibronectin type-III 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAAAGTTGATTGGTGGTCC	0.388													31	116					0	0	0	0	T	179473617	A	T	179473617	3	4	177	1	0	0	0	0	1	0	0	0	16831	333	12	5	55928	5	TTN	2	179473617	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08	275932	179473617	63725756	26	30848											
MARS2	92935	broad.mit.edu	37	chr2	198571571	198571571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgtccagctgtgtccGgcaaactaatggttttgtcc	6	12	12	11	2	0	0	0	0	0	0	3	0	3	0	4	3	2	3	4	3	2	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:198571571G>A	ENST00000282276.6	+	1	1485	c.1442G>A	c.(1441-1443)cGg>cAg	p.R481Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	481					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AGCTGTGTCCGGCAAACTAAT	0.542													32	104					0	0	0	0	A	198571571	G	A	198571571	3	1	177	1	0	0	0	0	1	0	0	0	9386	1116	39	1	1444	1	MARS2	2	198571571	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	19097954	198571571	44627802	27	30849											
ERBB4	2066	broad.mit.edu	37	chr2	212295727	212295727	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagagtctggctagcccAaaatctgtgattttcacatg	11	12	8	10	0	3	2	1	1	2	1	4	2	4	2	2	1	1	1	2	1	4	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:212295727A>C	ENST00000342788.4	-	21	2896	c.2586T>G	c.(2584-2586)ttT>ttG	p.F862L	ERBB4_ENST00000436443.1_Missense_Mutation_p.F862L|ERBB4_ENST00000402597.1_Missense_Mutation_p.F852L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	862	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGGCTAGCCCAAAATCTGTGA	0.418										TSP Lung(8;0.080)			3	104					0	0	0	0	C	212295727	A	C	212295727	3	2	177	1	0	0	0	0	1	0	0	0	5247	127	5	5	1372	5	ERBB4	2	212295727	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08	13724156	212295727	30903646	28	30850											
ABCB6	10058	broad.mit.edu	37	chr2	220080750	220080750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgacactggatgtgccccGatccgcgatccgcagcacct	7	8	11	15	4	0	1	0	1	0	0	2	4	2	2	5	1	2	2	5	1	0	0			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:220080750G>A	ENST00000265316.3	-	5	1439	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	ABCB6_ENST00000439002.2_Missense_Mutation_p.R329W	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	375	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGTGCCCCGATCCGCGATC	0.687													4	16					0	0	0	0	A	220080750	G	A	220080750	3	1	177	1	0	0	0	0	1	0	0	0	45	1057	37	1	1465	1	ABCB6	2	220080750	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	7785023	220080750	23118623	29	30851											
KCNE4	23704	broad.mit.edu	37	chr2	223917672	223917672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacttctacattctggttGtcatgtccttctacggcatt	7	17	7	10	1	4	0	1	0	3	0	5	0	5	0	1	2	3	3	1	2	3	8			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:223917672G>T	ENST00000281830.3	+	2	608	c.277G>T	c.(277-279)Gtc>Ttc	p.V93F	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.V42F			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	42						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CATTCTGGTTGTCATGTCCTT	0.597													24	82					2.98393e-07	3.20974e-07	1	0	T	223917672	G	T	223917672	3	4	177	1	0	0	0	0	1	0	0	0	8078	1377	48	4	126	4	KCNE4	2	223917672	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	3836922	223917672	19281701	30	30852											
SERPINE2	5270	broad.mit.edu	37	chr2	224866605	224866605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccaagaggaagagggggaGatgccagttcatggttcctt	10	8	16	7	0	1	3	1	0	0	3	2	5	2	4	3	5	1	2	3	5	2	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:224866605G>A	ENST00000409840.3	-	3	673	c.13C>T	c.(13-15)Ctc>Ttc	p.L5F	SERPINE2_ENST00000409304.1_Missense_Mutation_p.L5F|SERPINE2_ENST00000447280.2_Missense_Mutation_p.L17F|SERPINE2_ENST00000258405.4_Missense_Mutation_p.L5F			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	5					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAGAGGGGGAGATGCCAGTTC	0.443													33	66					0	0	0	0	A	224866605	G	A	224866605	3	1	177	1	0	0	0	0	1	0	0	0	14199	942	33	2	1215	2	SERPINE2	2	224866605	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	948933	224866605	18332768	31	30853											
B3GNT7	93010	broad.mit.edu	37	chr2	232262638	232262638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacccgaaagatgtggctGcgcccacgcccatggcctct	9	6	11	15	3	1	2	0	0	1	2	1	3	1	2	4	2	2	1	4	2	2	0			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:232262638G>T	ENST00000287590.5	+	2	469	c.208G>T	c.(208-210)Gcg>Tcg	p.A70S	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	70					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		AGATGTGGCTGCGCCCACGCC	0.617													10	35					2.17888e-05	2.28209e-05	1	0	T	232262638	G	T	232262638	3	4	177	1	0	0	0	0	1	0	0	0	1266	1319	46	4	214	4	B3GNT7	2	232262638	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	7396033	232262638	10936735	32	30854											
TRIM71	131405	broad.mit.edu	37	chr3	32931915	32931915	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtggagaagctgcggcaaAacctcaacaagcttgagagc	14	5	13	9	1	1	2	1	1	0	2	1	4	1	2	1	3	6	3	1	3	5	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:32931915A>C	ENST00000383763.4	+	4	1282	c.1219A>C	c.(1219-1221)Aac>Cac	p.N407H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	407					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGCGGCAAAACCTCAACAA	0.567													27	83					0	0	0	0	C	32931915	A	C	32931915	3	2	177	1	0	0	0	0	1	0	0	0	16639	14	1	5	1233	5	TRIM71	3	32931915	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08		32931915	165090515	33	30855											
SUSD5	26032	broad.mit.edu	37	chr3	33255548	33255548	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaagccgagcagcctcCagttgtaggccctgagagcc	10	5	13	13	1	0	1	0	1	0	1	1	4	1	2	5	2	4	3	5	2	2	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:33255548C>T	ENST00000309558.3	-	2	579	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	54	Link.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GAGCAGCCTCCAGTTGTAGGC	0.547													5	28					0	0	0	0	T	33255548	C	T	33255548	2	4	177	1	0	0	0	0	0	0	0	1	15501	581	21	4		4	SUSD5	3	33255548	Silent	SNP	C	TCGA-CR-6471-01A-11D-1870-08	323633	33255548	164766882	34	30856											
SETD2	29072	broad.mit.edu	37	chr3	47163558	47163558	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagctgaactagtgctaccGatgctctgcttatattcttc	9	14	8	10	1	2	1	0	1	2	0	3	3	2	1	1	0	6	4	1	0	6	6			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:47163558G>A	ENST00000409792.3	-	3	2610	c.2568C>T	c.(2566-2568)atC>atT	p.I856I		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	856					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TAGTGCTACCGATGCTCTGCT	0.358			"N, F, S, Mis"		clear cell renal carcinoma								13	42					0	0	0	0	A	47163558	G	A	47163558	2	1	177	1	0	0	0	0	0	0	0	1	14218	1048	37	1		1	SETD2	3	47163558	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	13908010	47163558	150858872	35	30857											
ATRIP	84126	broad.mit.edu	37	chr3	48501802	48501802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcacctggggactcacCgacacattcctcctgcgtga	8	7	11	15	3	1	1	1	1	0	0	3	4	3	3	4	3	2	1	4	3	0	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:48501802C>T	ENST00000412052.1	+	8	1532	c.1070C>T	c.(1069-1071)cCg>cTg	p.P357L	ATRIP_ENST00000320211.3_Missense_Mutation_p.P450L|ATRIP_ENST00000346691.4_Missense_Mutation_p.P450L|ATRIP_ENST00000357105.6_Missense_Mutation_p.P323L	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	450					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGACTCACCGACACATTCC	0.562								Other conserved DNA damage response genes					15	59					0	0	0	0	T	48501802	C	T	48501802	3	4	177	1	0	0	0	0	1	0	0	0	1209	652	23	1	1379	1	ATRIP	3	48501802	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	1338244	48501802	149520628	36	30858											
OR5H6	79295	broad.mit.edu	37	chr3	97983874	97983874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaaagaagtctatcaaagGgatacgaaaagctgtctcca	18	7	9	7	1	3	2	1	0	2	2	4	4	3	3	1	1	2	1	1	1	8	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:97983874G>A	ENST00000383696.2	+	1	787	c.746G>A	c.(745-747)gGg>gAg	p.G249E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCTATCAAAGGGATACGAAAA	0.383													7	39					0	0	0	0	A	97983874	G	A	97983874	3	1	177	1	0	0	0	0	1	0	0	0	11234	1232	43	4	748	4	OR5H6	3	97983874	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	49482072	97983874	100038556	37	30859											
OR5H2	79310	broad.mit.edu	37	chr3	98001947	98001947	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcttgggagtttagcCtttgttgatgcttggatatc	5	21	10	5	0	1	1	0	1	1	0	2	3	1	3	1	2	2	3	1	2	2	10			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:98001947C>G	ENST00000355273.2	+	1	216	c.216C>G	c.(214-216)gcC>gcG	p.A72A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GGAGTTTAGCCTTTGTTGATG	0.393													50	210					0	0	0	0	G	98001947	C	G	98001947	2	3	177	1	0	0	0	0	0	0	0	1	11233	668	24	4		4	OR5H2	3	98001947	Silent	SNP	C	TCGA-CR-6471-01A-11D-1870-08	18073	98001947	100020483	38	30860											
PIK3CA	5290	broad.mit.edu	37	chr3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttttgatgaaacaagacGactttgtgaccttcggcttt	10	16	8	7	2	0	4	0	3	0	1	1	5	0	4	1	1	1	1	1	1	2	6	rs121913287		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	62					0	0	0	0	A	178916876	G	A	178916876	3	1	177	1	0	0	0	0	1	0	0	0	11985	1058	37	1	265	1	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	80914929	178916876	19105554	39	30861											
PIK3CA	5290	broad.mit.edu	37	chr3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtatttcatgaaacaaAtgaatgatgcacatcatggt	15	12	9	5	0	2	3	2	3	0	0	2	4	2	4	0	2	2	2	0	2	4	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			14	42					0	0	0	0	G	178952072	A	G	178952072	3	3	177	1	0	0	0	0	1	0	0	0	11985	101	4	5	3205	5	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08	35196	178952072	19070358	40	30862											
VPS8	23355	broad.mit.edu	37	chr3	184714191	184714191	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtaacctgagagcttcGgtcaccagaggactgaatcc	10	10	11	10	1	1	3	1	2	0	2	3	5	2	4	3	2	2	2	3	2	2	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:184714191G>T	ENST00000287546.4	+	43	3909	c.3738G>T	c.(3736-3738)tcG>tcT	p.S1246S	VPS8_ENST00000446204.2_Silent_p.S1154S|VPS8_ENST00000436792.2_Silent_p.S1244S|VPS8_ENST00000437079.3_Silent_p.S1246S	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1246							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGAGAGCTTCGGTCACCAGAG	0.413													21	32					1.96292e-10	2.15813e-10	1	0	T	184714191	G	T	184714191	2	4	177	1	0	0	0	0	0	0	0	1	17314	1103	39	3		3	VPS8	3	184714191	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	5762119	184714191	13308239	41	30863											
LPP	4026	broad.mit.edu	37	chr3	188242516	188242516	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacgctgagattgactccTtgaccagcatcttggctgac	8	11	11	11	1	1	4	0	4	1	1	2	6	2	5	2	2	1	3	2	2	0	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:188242516T>C	ENST00000312675.4	+	5	616	c.370T>C	c.(370-372)Ttg>Ctg	p.L124L	LPP_ENST00000448637.1_Silent_p.L124L|LPP_ENST00000543006.1_Silent_p.L124L	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	124	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GATTGACTCCTTGACCAGCAT	0.547			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								42	100					0	0	0	0	C	188242516	T	C	188242516	2	2	177	1	0	0	0	0	0	0	0	1	8987	1606	56	5		5	LPP	3	188242516	Silent	SNP	T	TCGA-CR-6471-01A-11D-1870-08	3528325	188242516	9779914	42	30864											
CPN2	1370	broad.mit.edu	37	chr3	194061983	194061983	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtgccctcggggttgctGtaggtgcactggctccgggc	3	9	17	12	3	0	0	0	0	0	0	2	0	1	0	2	6	3	5	2	6	1	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:194061983G>A	ENST00000323830.3	-	2	1538	c.1449C>T	c.(1447-1449)taC>taT	p.Y483Y	CPN2_ENST00000429275.1_Silent_p.Y483Y	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	483					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CGGGGTTGCTGTAGGTGCACT	0.662													19	37					0	0	0	0	A	194061983	G	A	194061983	2	1	177	1	0	0	0	0	0	0	0	1	3840	1372	48	4		4	CPN2	3	194061983	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	5819467	194061983	3960447	43	30865											
DHX15	1665	broad.mit.edu	37	chr4	24550530	24550530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggaggctcaaaaatgCgttgctgctgctgaggtgga	9	9	17	6	1	1	1	1	1	0	0	1	4	1	3	0	5	4	5	0	5	2	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:24550530C>T	ENST00000336812.4	-	6	1352	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	399	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CTCAAAAATGCGTTGCTGCTG	0.363													11	37					0	0	0	0	T	24550530	C	T	24550530	3	4	177	1	0	0	0	0	1	0	0	0	4538	768	27	1	1227	1	DHX15	4	24550530	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08		24550530	166603746	44	30866											
WDR19	57728	broad.mit.edu	37	chr4	39217514	39217514	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgctagcactctctaccCaaaggggctcacttcatgtt	9	12	8	12	0	3	0	2	0	1	0	4	0	3	0	1	2	3	5	1	2	3	5			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:39217514C>G	ENST00000399820.3	+	11	1169	c.1015C>G	c.(1015-1017)Caa>Gaa	p.Q339E	WDR19_ENST00000506503.1_Missense_Mutation_p.Q339E|WDR19_ENST00000288634.7_Missense_Mutation_p.Q179E	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	339					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						ACTCTCTACCCAAAGGGGCTC	0.448													20	56					0	0	0	0	G	39217514	C	G	39217514	3	3	177	1	0	0	0	0	1	0	0	0	17375	595	21	4	1057	4	WDR19	4	39217514	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	14666984	39217514	151936762	45	30867											
PDGFRA	5156	broad.mit.edu	37	chr4	55141026	55141026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaaccgaggtatgaaattCgctggagggtcattgaatca	14	9	12	6	2	2	3	2	2	0	1	3	5	2	4	1	3	1	2	1	3	4	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:55141026C>T	ENST00000257290.5	+	12	2003	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	558					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTATGAAATTCGCTGGAGGGT	0.463			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			22	50					0	0	0	0	T	55141026	C	T	55141026	3	4	177	1	0	0	0	0	1	0	0	0	11732	884	31	1	1714	1	PDGFRA	4	55141026	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	15923512	55141026	136013250	46	30868											
ALB	213	broad.mit.edu	37	chr4	74284002	74284002	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatatatgcacactttctgaGaaggagagacaaatcaagaa	18	8	9	6	0	2	3	1	1	1	3	2	7	2	4	0	1	1	1	0	1	6	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:74284002G>A	ENST00000295897.4	+	12	1715	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	ALB_ENST00000509063.1_Silent_p.E542E|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Silent_p.E350E|ALB_ENST00000401494.3_Silent_p.E427E|ALB_ENST00000503124.1_Silent_p.E392E	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	542	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CACTTTCTGAGAAGGAGAGAC	0.388													12	51					0	0	0	0	A	74284002	G	A	74284002	2	1	177	1	0	0	0	0	0	0	0	1	486	933	33	2		2	ALB	4	74284002	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	19142976	74284002	116870274	47	30869											
HELQ	113510	broad.mit.edu	37	chr4	84368164	84368164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaaagaaaccgagttctaTaccaaaacttgacaaacctg	19	7	5	10	1	1	2	0	1	1	1	1	3	1	2	3	0	5	1	3	0	8	4			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:84368164T>C	ENST00000295488.3	-	4	1378	c.1216A>G	c.(1216-1218)Ata>Gta	p.I406V	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	406	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CCGAGTTCTATACCAAAACTT	0.373								Other identified genes with known or suspected DNA repair function					9	25					0	0	0	0	C	84368164	T	C	84368164	3	2	177	1	0	0	0	0	1	0	0	0	7097	1406	49	5	2149	5	HELQ	4	84368164	Missense_Mutation	SNP	T	TCGA-CR-6471-01A-11D-1870-08	10084162	84368164	106786112	48	30870											
BDH2	56898	broad.mit.edu	37	chr4	104017355	104017355	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttactaaggcagctgcttgGccaatcccctgagcagcggc	8	8	11	14	1	0	1	0	1	0	0	1	1	1	1	3	3	5	4	3	3	3	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:104017355G>C	ENST00000296424.4	-	2	177	c.57C>G	c.(55-57)ggC>ggG	p.G19G		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	19					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		CAGCTGCTTGGCCAATCCCCT	0.423													11	24					0	0	0	0	C	104017355	G	C	104017355	2	2	177	1	0	0	0	0	0	0	0	1	1395	1190	42	4		4	BDH2	4	104017355	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	19649191	104017355	87136921	49	30871											
INPP4B	8821	broad.mit.edu	37	chr4	143003331	143003331	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaataccattcagtttgCggcaaatctgtaacatatgt	14	12	7	8	2	2	0	1	0	1	0	2	1	2	0	1	1	4	3	1	1	6	5			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:143003331C>A	ENST00000513000.1	-	26	2928	c.2495G>T	c.(2494-2496)cGc>cTc	p.R832L	INPP4B_ENST00000262992.4_Missense_Mutation_p.R832L|INPP4B_ENST00000508116.1_Missense_Mutation_p.R832L|INPP4B_ENST00000308502.4_Missense_Mutation_p.R832L|INPP4B_ENST00000509777.1_Missense_Mutation_p.R832L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	832					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ATTCAGTTTGCGGCAAATCTG	0.403													11	45					0.00136819	0.00141808	1	0	A	143003331	C	A	143003331	3	1	177	1	0	0	0	0	1	0	0	0	7806	768	27	3	287	3	INPP4B	4	143003331	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	38985976	143003331	48150945	50	30872											
IRX2	153572	broad.mit.edu	37	chr5	2748625	2748625	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggccctgcagcgccgcGttcaagttcccgtagtttgt	4	11	11	15	4	1	0	1	0	0	0	2	0	2	0	4	1	2	5	4	1	2	4			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:2748625G>A	ENST00000382611.6	-	3	1445	c.1197C>T	c.(1195-1197)aaC>aaT	p.N399N	IRX2_ENST00000302057.5_Silent_p.N399N	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	399						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCAGCGCCGCGTTCAAGTTCC	0.711													21	67					0	0	0	0	A	2748625	G	A	2748625	2	1	177	1	0	0	0	0	0	0	0	1	7897	1136	40	1		1	IRX2	5	2748625	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08		2748625	178166635	51	30873											
DNAH5	1767	broad.mit.edu	37	chr5	13839478	13839478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccatcacctgtctgtaagtgGagttattacaagcctgtcag	10	12	9	10	0	3	0	2	0	1	0	3	1	3	1	3	1	2	2	3	1	4	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:13839478G>A	ENST00000265104.4	-	35	5973	c.5869C>T	c.(5869-5871)Cca>Tca	p.P1957S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1957	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTGTAAGTGGAGTTATTACA	0.418									Kartagener syndrome				29	104					0	0	0	0	A	13839478	G	A	13839478	3	1	177	1	0	0	0	0	1	0	0	0	4641	1174	41	2	8185	2	DNAH5	5	13839478	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	11090853	13839478	167075782	52	30874											
CCDC125	202243	broad.mit.edu	37	chr5	68603840	68603840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgcgtatgacttgtggCtttgcccagtattgcctaag	6	14	11	10	1	0	1	0	1	0	0	0	1	0	1	3	1	4	3	3	1	3	6			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:68603840C>T	ENST00000396496.2	-	5	576	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	CCDC125_ENST00000383374.2_Missense_Mutation_p.A156T|CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000511257.1_Missense_Mutation_p.A32T|CCDC125_ENST00000396499.1_Missense_Mutation_p.A157T			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	157						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TGACTTGTGGCTTTGCCCAGT	0.343													49	45					0	0	0	0	T	68603840	C	T	68603840	3	4	177	1	0	0	0	0	1	0	0	0	2786	797	28	4	1098	4	CCDC125	5	68603840	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	54764362	68603840	112311420	53	30875											
NUDT12	83594	broad.mit.edu	37	chr5	102895788	102895788	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctgggtgcccattcctTgccgcatacattaaagcagt	9	12	8	12	1	1	0	0	0	1	0	3	0	2	0	3	1	4	2	3	1	3	4			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:102895788T>G	ENST00000230792.2	-	2	258	c.162A>C	c.(160-162)gcA>gcC	p.A54A	NUDT12_ENST00000507423.1_Intron	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	54						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GCCCATTCCTTGCCGCATACA	0.408													14	106					0	0	0	0	G	102895788	T	G	102895788	2	3	177	1	0	0	0	0	0	0	0	1	10799	1799	63	5		5	NUDT12	5	102895788	Silent	SNP	T	TCGA-CR-6471-01A-11D-1870-08	34291948	102895788	78019472	54	30876											
CXXC5	51523	broad.mit.edu	37	chr5	139060923	139060923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcgccctgccggcggcGcatcaactgcgagcagtgca	6	5	15	15	6	1	0	1	0	0	0	1	1	1	0	2	2	6	3	2	2	1	0			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:139060923G>A	ENST00000302517.3	+	2	1529	c.815G>A	c.(814-816)cGc>cAc	p.R272H	CXXC5_ENST00000511048.1_Missense_Mutation_p.R272H|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	272					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCGGCGGCGCATCAACTGC	0.572													81	112					0	0	0	0	A	139060923	G	A	139060923	3	1	177	1	0	0	0	0	1	0	0	0	4131	1087	38	1	817	1	CXXC5	5	139060923	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	36165135	139060923	41854337	55	30877											
PCDHA7	56141	broad.mit.edu	37	chr5	140215783	140215783	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgactcaggctacaacgcGtggctttcgtatgagttgca	8	11	12	10	3	1	2	1	2	0	0	2	2	1	2	0	2	3	6	0	2	3	4			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:140215783G>T	ENST00000525929.1	+	1	1815	c.1815G>T	c.(1813-1815)gcG>gcT	p.A605A	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.A605A|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACAACGCGTGGCTTTCGT	0.637													31	83					5.60225e-13	6.37056e-13	1	0	T	140215783	G	T	140215783	2	4	177	1	0	0	0	0	0	0	0	1	11600	1132	40	3		3	PCDHA7	5	140215783	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	1154860	140215783	40699477	56	30878											
PCDHA12	56137	broad.mit.edu	37	chr5	140256301	140256301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacagcgccctggaccGcgagagcgtgtcggcctatg	6	6	16	13	5	0	1	0	0	0	1	1	4	0	3	3	3	2	1	3	3	1	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:140256301G>A	ENST00000398631.2	+	1	1244	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGGACCGCGAGAGCGTG	0.612													57	223					0	0	0	0	A	140256301	G	A	140256301	3	1	177	1	0	0	0	0	1	0	0	0	11593	1087	38	1	1246	1	PCDHA12	5	140256301	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	40518	140256301	40658959	57	30879											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783917	140783918	+	Frame_Shift_Del	DEL	CA	CA	-																															tacctcccggaaaacaacgcCagaggtacttccatcttctc																										TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:140783917_140783918delCA	ENST00000573521.1	+	1	1398_1399	c.1398_1399delCA	c.(1396-1401)gcgafs	p.AR466fs	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAACAACGCCAGAGGTACTTC	0.47													17	110	---	---	---	---					-	140783918	CA	-	140783917	7	5	177	1	0	1	0	1	0	0	0	0	11632	581	21	0	1400	0	PCDHGA9	5	140783917	Frame_Shift_Del	DEL	CA	TCGA-CR-6471-01A-11D-1870-08	527616	140783917	40131343	58	30880											
SGCD	6444	broad.mit.edu	37	chr5	156186283	156186283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcctcatggatcctacaCgcctacaggaacgaggcaga	12	6	10	13	2	1	1	1	0	0	1	2	4	2	3	3	3	4	1	3	3	3	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:156186283C>T	ENST00000435422.3	+	8	1239	c.752C>T	c.(751-753)aCg>aTg	p.T251M	SGCD_ENST00000337851.4_Missense_Mutation_p.T252M	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	251					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATCCTACACGCCTACAGGA	0.498													20	106					0	0	0	0	T	156186283	C	T	156186283	3	4	177	1	0	0	0	0	1	0	0	0	14288	536	19	1	857	1	SGCD	5	156186283	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	15402366	156186283	24728977	59	30881											
STK10	6793	broad.mit.edu	37	chr5	171520586	171520586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattggccagcttctcccCacccaaggtctccagggcgc	6	7	10	18	1	2	0	0	0	2	0	4	0	2	0	6	3	1	1	6	3	1	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:171520586C>T	ENST00000176763.5	-	9	1727	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	462							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCTTCTCCCCACCCAAGGTC	0.652													23	96					0	0	0	0	T	171520586	C	T	171520586	3	4	177	1	0	0	0	0	1	0	0	0	15376	594	21	4	1566	4	STK10	5	171520586	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	15334303	171520586	9394674	60	30882											
STK10	6793	broad.mit.edu	37	chr5	171534817	171534817	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgaaggaatctcgtttcTgtagagtcttcagattcttg	9	15	10	7	2	5	3	1	1	4	2	6	5	5	4	0	1	0	2	0	1	3	5			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:171534817T>C	ENST00000176763.5	-	5	903	c.560A>G	c.(559-561)cAg>cGg	p.Q187R		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	187	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATCTCGTTTCTGTAGAGTCTT	0.498											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	54					0	0	0	0	C	171534817	T	C	171534817	3	2	177	1	0	0	0	0	1	0	0	0	15376	1580	55	5	2406	5	STK10	5	171534817	Missense_Mutation	SNP	T	TCGA-CR-6471-01A-11D-1870-08	14231	171534817	9380443	61	30883											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171774317	171774317	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccggcgaggagggggtctCtgcctcatctttggtgatcc	4	11	14	12	2	3	1	1	1	2	0	6	3	5	2	3	5	1	0	3	5	0	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:171774317C>T	ENST00000311601.5	-	11	1202	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q	SH3PXD2B_ENST00000519643.1_Silent_p.Q344Q	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	344					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGGGGGTCTCTGCCTCATCT	0.542													11	79					0	0	0	0	T	171774317	C	T	171774317	2	4	177	1	0	0	0	0	0	0	0	1	14345	912	32	2		2	SH3PXD2B	5	171774317	Silent	SNP	C	TCGA-CR-6471-01A-11D-1870-08	239500	171774317	9140943	62	30884											
GPX6	257202	broad.mit.edu	37	chr6	28473490	28473490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcatgcaccttcaggaaaGtaaagaccttctgttctttt	11	14	6	10	0	4	1	2	0	2	1	4	2	4	2	2	1	1	3	2	1	3	6			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:28473490G>T	ENST00000361902.1	-	4	498	c.449C>A	c.(448-450)aCt>aAt	p.T150N	GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	150					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CTTCAGGAAAGTAAAGACCTT	0.473													15	72					6.31663e-08	6.8689e-08	1	0	T	28473490	G	T	28473490	3	4	177	1	0	0	0	0	1	0	0	0	6794	1029	36	4	224	4	GPX6	6	28473490	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08		28473490	142641577	63	30885											
TAP2	6891	broad.mit.edu	37	chr6	32782192	32782192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttctagcatcaccacaGtctgaaaggtccagtctcca	11	11	6	13	0	5	1	2	1	3	0	7	1	6	1	3	1	1	1	3	1	2	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:32782192G>A	ENST00000452392.2	-	14	2542	c.2369C>T	c.(2368-2370)aCt>aTt	p.T790I	HLA-DOB_ENST00000438763.2_Missense_Mutation_p.T183I			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										CATCACCACAGTCTGAAAGGT	0.532													33	88					0	0	0	0	A	32782192	G	A	32782192	3	1	177	1	0	0	0	0	1	0	0	0	15642	1029	36	4		4	TAP2	6	32782192	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	4308702	32782192	138332875	64	30886											
GRM4	2914	broad.mit.edu	37	chr6	34029792	34029792	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatcttcaccgactgggcGatgcacacgccccctgcagg	7	7	12	15	3	2	0	1	0	1	0	2	2	2	0	3	3	2	3	3	3	1	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:34029792G>T	ENST00000374181.3	-	3	919	c.750C>A	c.(748-750)atC>atA	p.I250I	GRM4_ENST00000535756.1_Silent_p.I117I|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000538487.1_Silent_p.I250I|GRM4_ENST00000544773.1_Silent_p.I81I|GRM4_ENST00000455714.2_Silent_p.I110I|GRM4_ENST00000374177.3_Silent_p.I181I	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	250					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CCGACTGGGCGATGCACACGC	0.627													26	28					1.66031e-10	1.83556e-10	1	0	T	34029792	G	T	34029792	2	4	177	1	0	0	0	0	0	0	0	1	6849	1048	37	3		3	GRM4	6	34029792	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	1247600	34029792	137085275	65	30887											
PAQR8	85315	broad.mit.edu	37	chr6	52268776	52268776	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accctccagatcctcttcttCctggttagcgcttatttctt	5	17	5	14	1	3	1	0	0	3	1	6	1	6	1	4	1	1	2	4	1	2	6			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:52268776C>T	ENST00000442253.2	+	2	939	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PAQR8_ENST00000360726.3_Silent_p.F255F	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	255					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCTCTTCTTCCTGGTTAGCG	0.577													14	55					0	0	0	0	T	52268776	C	T	52268776	2	4	177	1	0	0	0	0	0	0	0	1	11512	854	30	2		2	PAQR8	6	52268776	Silent	SNP	C	TCGA-CR-6471-01A-11D-1870-08	18238984	52268776	118846291	66	30888											
FAM83B	222584	broad.mit.edu	37	chr6	54735396	54735396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatgcccggactcttagggGgcacccatatagatctcctt	8	11	10	12	1	2	2	0	1	2	1	3	3	2	3	3	3	1	1	3	3	3	4			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:54735396G>A	ENST00000306858.7	+	2	468	c.352G>A	c.(352-354)Ggc>Agc	p.G118S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	118										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACTCTTAGGGGGCACCCATAT	0.433													32	93					0	0	0	0	A	54735396	G	A	54735396	3	1	177	1	0	0	0	0	1	0	0	0	5680	1232	43	4	354	4	FAM83B	6	54735396	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	2466620	54735396	116379671	67	30889											
EPHA7	2045	broad.mit.edu	37	chr6	94068069	94068069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttatcagaaaaactgtgaGttggacaacgagagcactga	15	9	10	7	1	1	4	1	2	0	2	1	6	1	5	0	1	3	2	0	1	4	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:94068069G>T	ENST00000369303.4	-	4	1077	c.893C>A	c.(892-894)aCt>aAt	p.T298N		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	298	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AAAACTGTGAGTTGGACAACG	0.473													10	66					2.17888e-05	2.28209e-05	1	0	T	94068069	G	T	94068069	3	4	177	1	0	0	0	0	1	0	0	0	5210	1029	36	4	2159	4	EPHA7	6	94068069	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	39332673	94068069	77046998	68	30890											
SIM1	6492	broad.mit.edu	37	chr6	100841635	100841635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaactgtctgtaggcgcacGatgcgtcgtgctgggagcca	9	8	14	10	4	1	0	0	0	1	0	2	2	1	1	1	2	4	3	1	2	3	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:100841635G>A	ENST00000369208.3	-	11	2080	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	SIM1_ENST00000262901.4_Missense_Mutation_p.S433L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	433	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTAGGCGCACGATGCGTCGTG	0.617													13	59					0	0	0	0	A	100841635	G	A	100841635	3	1	177	1	0	0	0	0	1	0	0	0	14411	1059	37	1	1010	1	SIM1	6	100841635	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	6773566	100841635	70273432	69	30891											
LIN28B	389421	broad.mit.edu	37	chr6	105406144	105406144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccccttggatattccagtcGatgtatttgtacaccaagta	10	13	8	10	1	0	0	0	0	0	0	2	2	1	1	4	1	1	3	4	1	5	7			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:105406144G>A	ENST00000345080.4	+	2	384	c.181G>A	c.(181-183)Gat>Aat	p.D61N		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	61	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				TATTCCAGTCGATGTATTTGT	0.458													39	114					0	0	0	0	A	105406144	G	A	105406144	3	1	177	1	0	0	0	0	1	0	0	0	8861	1058	37	1	187	1	LIN28B	6	105406144	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	4564509	105406144	65708923	70	30892											
RTN4IP1	84816	broad.mit.edu	37	chr6	107019900	107019900	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaattacagtctttcctcGtgcgtgtcctctttccacct	6	17	5	13	2	2	0	0	0	2	0	6	0	5	0	4	0	2	0	4	0	2	4			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:107019900G>A	ENST00000369063.3	-	9	1627	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	RTN4IP1_ENST00000539449.1_3'UTR|RTN4IP1_ENST00000498091.1_5'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	388						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GTCTTTCCTCGTGCGTGTCCT	0.383													21	94					0	0	0	0	A	107019900	G	A	107019900	4	1	177	1	0	0	0	0	0	1	0	0	13814	1153	40	1	32	1	RTN4IP1	6	107019900	Nonsense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	1613756	107019900	64095167	71	30893											
FAM184A	79632	broad.mit.edu	37	chr6	119341157	119341157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaccttctccagttctaGaatctgttgcttctgctctt	5	20	5	11	0	5	1	0	0	5	1	6	1	5	1	2	0	3	4	2	0	3	8			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:119341157G>T	ENST00000338891.7	-	4	1761	c.1318C>A	c.(1318-1320)Cta>Ata	p.L440I	FAM184A_ENST00000368475.4_Missense_Mutation_p.L320I|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.L320I|FAM184A_ENST00000521531.1_Missense_Mutation_p.L440I|FAM184A_ENST00000352896.5_Missense_Mutation_p.L320I	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	440										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCCAGTTCTAGAATCTGTTGC	0.388													25	58					3.65163e-15	4.17629e-15	1	0	T	119341157	G	T	119341157	3	4	177	1	0	0	0	0	1	0	0	0	5553	933	33	2	2164	2	FAM184A	6	119341157	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	12321257	119341157	51773910	72	30894											
PBOV1	59351	broad.mit.edu	37	chr6	138539373	138539373	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttactttttctttttttcGaaataccttgtagcagaatg	9	21	5	6	1	1	1	0	0	1	1	2	2	1	1	1	0	3	2	1	0	5	10			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:138539373G>A	ENST00000527246.2	-	1	254	c.160C>T	c.(160-162)Cga>Tga	p.R54*	KIAA1244_ENST00000251691.4_Intron	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN	prostate and breast cancer overexpressed 1	54						cytoplasm|nucleus		p.R54*(2)		endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		TCTTTTTTTCGAAATACCTtg	0.393													10	33					0	0	0	0	A	138539373	G	A	138539373	4	1	177	1	0	0	0	0	0	1	0	0	11561	1066	37	1	251	1	PBOV1	6	138539373	Nonsense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	19198216	138539373	32575694	73	30895											
CARD11	84433	broad.mit.edu	37	chr7	2946386	2946386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtcaggttccaccgtggcGtacaggcacggcagggcctc	7	7	14	13	3	1	0	1	0	0	0	3	0	2	0	3	5	1	4	3	5	1	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:2946386G>A	ENST00000396946.4	-	25	3754	c.3351C>T	c.(3349-3351)taC>taT	p.Y1117Y		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1117	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.Y1110Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCACCGTGGCGTACAGGCACG	0.647			Mis		DLBCL								9	30					0	0	0	0	A	2946386	G	A	2946386	2	1	177	1	0	0	0	0	0	0	0	1	2670	1140	40	1		1	CARD11	7	2946386	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08		2946386	156192277	74	30896											
GCK	2645	broad.mit.edu	37	chr7	44187277	44187277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accggggtttgcagagctctCgtccaccaggcggtcatact	7	9	12	13	3	2	1	1	0	1	1	4	1	3	1	3	4	3	3	3	4	1	2	rs104894005	byFrequency	TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:44187277C>T	ENST00000403799.3	-	7	1304	c.835G>A	c.(835-837)Gag>Aag	p.E279K	GCK_ENST00000437084.1_Missense_Mutation_p.E262K|GCK_ENST00000395796.3_Missense_Mutation_p.E278K|GCK_ENST00000345378.2_Missense_Mutation_p.E280K	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	279			E -> Q (in MODY2).		cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCAGAGCTCTCGTCCACCAGG	0.692													23	62					0	0	0	0	T	44187277	C	T	44187277	3	4	177	1	0	0	0	0	1	0	0	0	6342	893	31	1	578	1	GCK	7	44187277	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	41240891	44187277	114951386	75	30897											
PPP1R9A	55607	broad.mit.edu	37	chr7	94897863	94897863	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctttcaatattcttagaCttgaatgaagcagtcccaga	13	14	6	8	0	3	4	1	2	2	2	4	4	4	4	1	0	1	1	1	0	6	6			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:94897863C>A	ENST00000289495.5	+	11	2817	c.2599_splice	c.e11-1	p.D867_splice	PPP1R9A_ENST00000340694.4_Splice_Site_p.D867_splice|PPP1R9A_ENST00000456331.2_Splice_Site_p.D867_splice|PPP1R9A_ENST00000433360.1_Splice_Site_p.D889_splice|PPP1R9A_ENST00000433881.1_Splice_Site_p.D867_splice|PPP1R9A_ENST00000424654.1_Splice_Site_p.D867_splice	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	867	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TATTCTTAGACTTGAATGAAG	0.443										HNSCC(28;0.073)			25	48					1.42536e-11	1.58461e-11	1	0	A	94897863	C	A	94897863	5	1	177	1	0	0	0	0	0	0	1	0	12454	579	20	4	2713	4	PPP1R9A	7	94897863	Splice_Site	SNP	C	TCGA-CR-6471-01A-11D-1870-08	50710586	94897863	64240800	76	30898											
PPP1R9A	55607	broad.mit.edu	37	chr7	94898583	94898583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacctaagggtttgagaaCgtcttctccagaatcagatt	11	12	8	10	1	3	3	1	1	2	3	5	4	4	3	3	1	1	1	3	1	3	4			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:94898583C>T	ENST00000289495.5	+	12	2984	c.2768C>T	c.(2767-2769)aCg>aTg	p.T923M	PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T941M|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T963M|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T941M	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	923	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GGTTTGAGAACGTCTTCTCCA	0.433										HNSCC(28;0.073)			18	32					0	0	0	0	T	94898583	C	T	94898583	3	4	177	1	0	0	0	0	1	0	0	0	12454	536	19	1	2938	1	PPP1R9A	7	94898583	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	720	94898583	64240080	77	30899											
RELN	5649	broad.mit.edu	37	chr7	103270590	103270590	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaactgaattccaaactgCtttgcatcacctggtagttc	10	13	7	11	0	1	2	1	2	0	0	3	2	2	2	2	1	4	4	2	1	4	4			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:103270590C>T	ENST00000424685.2	-	20	2658	c.2499G>A	c.(2497-2499)aaG>aaA	p.K833K	RELN_ENST00000343529.5_Silent_p.K833K|RELN_ENST00000428762.1_Silent_p.K833K			P78509	RELN_HUMAN	reelin	833					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCAAACTGCTTTGCATCAC	0.343													16	80					0	0	0	0	T	103270590	C	T	103270590	2	4	177	1	0	0	0	0	0	0	0	1	13302	796	28	4		4	RELN	7	103270590	Silent	SNP	C	TCGA-CR-6471-01A-11D-1870-08	8372007	103270590	55868073	78	30900											
PUS7	54517	broad.mit.edu	37	chr7	105099648	105099648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtgtcttcccttctaGgttgtccacatctgtgttga	4	17	11	9	0	3	1	0	1	3	0	5	1	5	1	2	3	0	2	2	3	1	5			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:105099648G>A	ENST00000356362.2	-	15	2030	c.1816C>T	c.(1816-1818)Cta>Tta	p.L606L	PUS7_ENST00000469408.1_Silent_p.L606L	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	606					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTCCCTTCTAGGTTGTCCACA	0.348													14	41					0	0	0	0	A	105099648	G	A	105099648	2	1	177	1	0	0	0	0	0	0	0	1	12915	991	35	4		4	PUS7	7	105099648	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	1829058	105099648	54039015	79	30901											
CADPS2	93664	broad.mit.edu	37	chr7	122111562	122111562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgacagcctctcacacCataacgggcacagtactcat	11	9	7	14	1	3	1	2	1	2	0	4	1	3	1	2	1	3	2	2	1	2	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:122111562C>T	ENST00000334010.7	-	13	2477	c.2056G>A	c.(2056-2058)Ggt>Agt	p.G686S	CADPS2_ENST00000412584.2_Missense_Mutation_p.G682S|CADPS2_ENST00000449022.2_Missense_Mutation_p.G685S|CADPS2_ENST00000313070.7_Missense_Mutation_p.G682S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	685					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.G685C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CCTCTCACACCATAACGGGCA	0.418													3	10					0	0	0	0	T	122111562	C	T	122111562	3	4	177	1	0	0	0	0	1	0	0	0	2596	594	21	4	1949	4	CADPS2	7	122111562	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	17011914	122111562	37027101	80	30902											
IMPDH1	3614	broad.mit.edu	37	chr7	128038619	128038619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcttcaggtcggtgcggGcgatgatggccaccagctca	6	10	13	12	3	4	1	2	1	2	0	5	2	4	1	2	4	2	1	2	4	0	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:128038619G>T	ENST00000338791.6	-	10	1273	c.923C>A	c.(922-924)gCc>gAc	p.A308D	IMPDH1_ENST00000354269.5_Missense_Mutation_p.A298D|IMPDH1_ENST00000348127.6_Missense_Mutation_p.A272D|IMPDH1_ENST00000343214.4_Missense_Mutation_p.A198D|IMPDH1_ENST00000378717.4_Missense_Mutation_p.A239D|IMPDH1_ENST00000480861.1_Missense_Mutation_p.A218D|IMPDH1_ENST00000470772.1_Missense_Mutation_p.A222D|IMPDH1_ENST00000496200.1_Missense_Mutation_p.A198D|IMPDH1_ENST00000419067.2_Missense_Mutation_p.A275D	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	223					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GTCGGTGCGGGCGATGATGGC	0.577											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	111					1.06647e-15	1.22675e-15	1	0	T	128038619	G	T	128038619	3	4	177	1	0	0	0	0	1	0	0	0	7779	1203	42	4	908	4	IMPDH1	7	128038619	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	5927057	128038619	31100044	81	30903											
CCDC136	64753	broad.mit.edu	37	chr7	128454860	128454861	+	Frame_Shift_Ins	INS	-	-	C																															gccttctgttgtcaaagaagINScccgggggaagaatgctaat																										TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:128454860_128454861insC	ENST00000297788.4	+	15	3299_3300	c.2932_2933insC	c.(2932-2934)ccgfs	p.P978fs	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	978						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TGTCAAAGAAGCCCGGGGGAAG	0.54													6	13	---	---	---	---					C	128454861	-	C	128454860	7	5	177	1	0	1	1	0	0	0	0	0	2795	971	34	0	2990	0	CCDC136	7	128454860	Frame_Shift_Ins	INS	-	TCGA-CR-6471-01A-11D-1870-08	416241	128454860	30683803	82	30904											
CSMD1	64478	broad.mit.edu	37	chr8	2966226	2966226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgtttcgagggctgtgttgCcactgaaaactcccagctgg	7	10	12	12	2	0	1	0	1	0	0	2	2	1	1	3	2	3	4	3	2	2	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:2966226C>T	ENST00000520002.1	-	45	7211	c.6656G>A	c.(6655-6657)gGc>gAc	p.G2219D	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2219D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2219D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2219D|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2218D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2218D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2219	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCTGTGTTGCCACTGAAAAC	0.498													5	12					0	0	0	0	T	2966226	C	T	2966226	3	4	177	1	0	0	0	0	1	0	0	0	3976	739	26	4	4149	4	CSMD1	8	2966226	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08		2966226	143397796	83	30905											
MFHAS1	9258	broad.mit.edu	37	chr8	8749414	8749414	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtaggggatccccttcatGcagacctcgtaggggggctg	7	9	15	10	1	1	1	1	0	0	1	3	2	2	2	3	5	1	4	3	5	2	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:8749414G>A	ENST00000276282.6	-	1	1741	c.1155C>T	c.(1153-1155)tgC>tgT	p.C385C		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	385										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCCCCTTCATGCAGACCTCGT	0.617													22	19					0	0	0	0	A	8749414	G	A	8749414	2	1	177	1	0	0	0	0	0	0	0	1	9590	1311	46	4		4	MFHAS1	8	8749414	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	5783188	8749414	137614608	84	30906											
UBR5	51366	broad.mit.edu	37	chr8	103281237	103281237	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataatgagttccatggcctCatccactcttgctctcagag	10	12	7	12	0	3	2	2	1	2	1	6	2	5	2	3	1	1	2	3	1	2	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:103281237C>A	ENST00000520539.1	-	51	7936	c.7330G>T	c.(7330-7332)Gag>Tag	p.E2444*	UBR5_ENST00000521922.1_Nonsense_Mutation_p.E2438*|UBR5_ENST00000518205.1_Nonsense_Mutation_p.E173*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.E2444*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2444	PABC.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCATGGCCTCATCCACTCTT	0.443													27	117					3.73148e-12	4.19528e-12	1	0	A	103281237	C	A	103281237	4	1	177	1	0	0	0	0	0	1	0	0	17001	835	29	2	1105	2	UBR5	8	103281237	Nonsense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	94531823	103281237	43082785	85	30907											
ZNF572	137209	broad.mit.edu	37	chr8	125989237	125989237	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatcacatacaggtgaaaaaCcatatgaatgttctgtctgc	14	11	8	8	0	3	2	1	2	2	0	3	3	3	2	1	1	3	1	1	1	5	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:125989237C>A	ENST00000319286.5	+	3	881	c.727C>A	c.(727-729)Cca>Aca	p.P243T		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGGTGAAAAACCATATGAATG	0.453										HNSCC(60;0.17)			22	90					1.26454e-06	1.35292e-06	1	0	A	125989237	C	A	125989237	3	1	177	1	0	0	0	0	1	0	0	0	18099	507	18	4	733	4	ZNF572	8	125989237	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	22708000	125989237	20374785	86	30908											
ASAP1	50807	broad.mit.edu	37	chr8	131130412	131130412	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacaaaaacgataccagttTtgtacaaggaagtcaaccaa	20	7	6	8	1	1	0	1	0	0	0	1	2	1	1	2	1	5	2	2	1	9	4			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:131130412T>G	ENST00000357668.1	-	19	1902	c.1875A>C	c.(1873-1875)caA>caC	p.Q625H	ASAP1_ENST00000518721.1_Missense_Mutation_p.Q625H			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	625					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GATACCAGTTTTGTACAAGGA	0.428													34	42					0	0	0	0	G	131130412	T	G	131130412	3	3	177	1	0	0	0	0	1	0	0	0	1014	1838	64	5	1558	5	ASAP1	8	131130412	Missense_Mutation	SNP	T	TCGA-CR-6471-01A-11D-1870-08	5141175	131130412	15233610	87	30909											
GPAA1	8733	broad.mit.edu	37	chr8	145139718	145139718	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccccggcctctcccgcttCgtctccatcggcctctacat	3	11	6	21	4	3	0	0	0	3	0	8	0	4	0	6	2	1	1	6	2	1	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:145139718C>T	ENST00000355091.4	+	8	1225	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	GPAA1_ENST00000361036.6_Silent_p.F308F	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	368					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCCCGCTTCGTCTCCATCG	0.607													83	93					0	0	0	0	T	145139718	C	T	145139718	2	4	177	1	0	0	0	0	0	0	0	1	6636	883	31	1		1	GPAA1	8	145139718	Silent	SNP	C	TCGA-CR-6471-01A-11D-1870-08	14009306	145139718	1224304	88	30910											
IFNA21	3452	broad.mit.edu	37	chr9	21166295	21166295	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagttcagtggaaaattttTctaggaggctctgttcccaa	11	14	9	7	0	3	0	1	0	2	0	4	2	4	2	1	3	0	3	1	3	5	6			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr9:21166295T>G	ENST00000380225.1	-	1	364	c.317A>C	c.(316-318)gAa>gCa	p.E106A		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	106					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGAAAATTTTTCTAGGAGGCT	0.498													45	178					0	0	0	0	G	21166295	T	G	21166295	3	3	177	1	0	0	0	0	1	0	0	0	7591	1783	62	5	256	5	IFNA21	9	21166295	Missense_Mutation	SNP	T	TCGA-CR-6471-01A-11D-1870-08		21166295	120047136	89	30911											
GOLGA1	2800	broad.mit.edu	37	chr9	127650555	127650555	+	Nonsense_Mutation	SNP	G	G	A																															atttttctccagaagttgctGctccaagtcctgtttctcct																										TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr9:127650555G>A	ENST00000373555.4	-	19	2215	c.1882C>T	c.(1882-1884)Cag>Tag	p.Q628*		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	628						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AGAAGTTGCTGCTCCAAGTCC	0.517													42	251					0	0	0	0	A	127650555	G	A	127650555	4	1	177	1	0	0	0	0	0	1	0	0	6602	1328	46	4	441	4	GOLGA1	9	127650555	Nonsense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	106484260	127650555	13562876	90	30912	234	2									
GOLGA1	2800	broad.mit.edu	37	chr9	127650556	127650556	+	Missense_Mutation	SNP	C	C	A																															tttttctccagaagttgctgCtccaagtcctgtttctcctt																										TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr9:127650556C>A	ENST00000373555.4	-	19	2214	c.1881G>T	c.(1879-1881)gaG>gaT	p.E627D		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	627						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GAAGTTGCTGCTCCAAGTCCT	0.512													41	250					1.48646e-12	1.68072e-12	1	0	A	127650556	C	A	127650556	3	1	177	1	0	0	0	0	1	0	0	0	6602	796	28	4	442	4	GOLGA1	9	127650556	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	1	127650556	13562875	91	30913	234	2									
MRC1	4360	broad.mit.edu	37	chr10	17875801	17875801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacagaacgctgagctcctGagcatcacagagattcatga	14	7	9	11	1	2	5	2	3	0	2	3	6	3	5	1	0	4	3	1	0	2	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:17875801G>A	ENST00000331429.2	+	4	868	c.765G>A	c.(763-765)ctG>ctA	p.L255L	MRC1L1_ENST00000457317.1_Silent_p.L255L																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGAGCTCCTGAGCATCACAG	0.428													34	43					0	0	0	0	A	17875801	G	A	17875801	2	1	177	1	0	0	0	0	0	0	0	1	9826	1277	45	2		2	MRC1	10	17875801	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08		17875801	117658946	92	30914											
MLLT10	8028	broad.mit.edu	37	chr10	21845639	21845639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatacatagaacatcactGcgcatgtgcatctccccacc	11	9	7	14	1	2	1	1	0	1	1	3	2	2	2	3	1	4	2	3	1	3	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:21845639G>T	ENST00000377100.3	+	4	664	c.308G>T	c.(307-309)tGc>tTc	p.C103F	MLLT10_ENST00000377091.2_3'UTR|MLLT10_ENST00000495130.1_Intron|MLLT10_ENST00000446906.2_Intron|MLLT10_ENST00000377059.3_Intron|MLLT10_ENST00000307729.7_Intron|MLLT10_ENST00000377072.3_Intron	NM_001195628.1|NM_001195630.1	NP_001182557.1|NP_001182559.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	0	Self-association.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						gaacatcactgcgcatgtgca	0.468			T	"MLL, PICALM, CDK6"	AL								9	22					0.00829132	0.00854908	1	0	T	21845639	G	T	21845639	3	4	177	1	0	0	0	0	1	0	0	0	9695	1334	46	4		4	MLLT10	10	21845639	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	3969838	21845639	113689108	93	30915											
TMEM72	643236	broad.mit.edu	37	chr10	45430152	45430152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacttccttctgagcaagcGgaagaagaggaaagctgccc	12	7	11	11	1	1	3	0	1	1	2	2	5	2	5	2	2	5	2	2	2	5	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:45430152G>A	ENST00000544540.1	+	4	528	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	133						integral to membrane		p.R133L(2)		breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						CTGAGCAAGCGGAAGAAGAGG	0.602													25	79					0	0	0	0	A	45430152	G	A	45430152	3	1	177	1	0	0	0	0	1	0	0	0	16295	1116	39	1	416	1	TMEM72	10	45430152	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	23584513	45430152	90104595	94	30916											
CHAT	1103	broad.mit.edu	37	chr10	50833611	50833611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttctcctcctaccggcTccccggccatacccaggaca	6	8	7	20	2	2	0	0	0	2	0	5	1	4	1	7	3	2	2	7	3	2	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:50833611T>C	ENST00000395562.2	+	7	1068	c.599T>C	c.(598-600)cTc>cCc	p.L200P	CHAT_ENST00000339797.1_Missense_Mutation_p.L164P|CHAT_ENST00000351556.3_Missense_Mutation_p.L164P|CHAT_ENST00000395559.2_Missense_Mutation_p.L164P|CHAT_ENST00000337653.2_Missense_Mutation_p.L282P|CHAT_ENST00000455728.2_Missense_Mutation_p.L164P	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	282					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TCCTACCGGCTCCCCGGCCAT	0.592													10	7					0	0	0	0	C	50833611	T	C	50833611	3	2	177	1	0	0	0	0	1	0	0	0	3342	1551	54	5	911	5	CHAT	10	50833611	Missense_Mutation	SNP	T	TCGA-CR-6471-01A-11D-1870-08	5403459	50833611	84701136	95	30917											
ASAH2B	653308	broad.mit.edu	37	chr10	52502706	52502706	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggcagcatcgacaatttAtggaccgcacgcattatctg	11	10	10	10	3	1	1	0	1	1	0	2	3	1	2	1	2	1	4	1	2	3	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:52502706A>G	ENST00000374006.1	+	2	87	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	ASAH2B_ENST00000374007.1_5'UTR|ASAH2B_ENST00000483649.1_3'UTR|ASAH2B_ENST00000185907.9_5'UTR	NM_001079516.1	NP_001072984.1	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B	0					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(2)|lung(2)	4						TCGACAATTTATGGACCGCAC	0.448													58	176					0	0	0	0	G	52502706	A	G	52502706	3	3	177	1	0	0	0	0	1	0	0	0	1012	449	16	5	24	5	ASAH2B	10	52502706	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08	1669095	52502706	83032041	96	30918											
SH2D4B	387694	broad.mit.edu	37	chr10	82403807	82403807	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccctgcggacagagggAcagcccaccagactaccatc	12	3	11	15	1	0	2	0	0	0	2	1	5	0	5	4	3	4	0	4	3	2	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:82403807A>C	ENST00000470604.2	+	8	1262	c.1262A>C	c.(1261-1263)gAc>gCc	p.D421A	SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000313455.4_Silent_p.G300G|SH2D4B_ENST00000339284.2_Silent_p.G348G			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	421										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGACAGAGGGACAGCCCACCA	0.373													9	36					0	0	0	0	C	82403807	A	C	82403807	3	2	177	1	0	0	0	0	1	0	0	0	14323	262	10	5	1114	5	SH2D4B	10	82403807	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08	29901101	82403807	53130940	97	30919											
CNNM2	54805	broad.mit.edu	37	chr10	104835934	104835934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgccgtcacaccaacactGgggagcagcaataaccagct	13	4	10	14	2	1	0	1	0	0	0	1	2	1	1	3	2	5	3	3	2	3	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:104835934G>A	ENST00000369878.3	+	7	2449	c.2325G>A	c.(2323-2325)ctG>ctA	p.L775L	CNNM2_ENST00000475511.1_3'UTR|CNNM2_ENST00000433628.2_Silent_p.L753L|CNNM2_ENST00000457502.2_Silent_p.L533L	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	775					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CACCAACACTGGGGAGCAGCA	0.527													3	12					0	0	0	0	A	104835934	G	A	104835934	2	1	177	1	0	0	0	0	0	0	0	1	3643	1335	47	4		4	CNNM2	10	104835934	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	22432127	104835934	30698813	98	30920											
DOCK1	1793	broad.mit.edu	37	chr10	129216755	129216755	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgctctccatgctcctgAacggcatcgtggacccagct	7	8	9	17	3	1	1	0	1	1	0	4	2	2	2	4	2	3	4	4	2	1	0			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:129216755A>T	ENST00000280333.6	+	45	4688	c.4579A>T	c.(4579-4581)Aac>Tac	p.N1527Y		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1527	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CATGCTCCTGAACGGCATCGT	0.602													7	26					0	0	0	0	T	129216755	A	T	129216755	3	4	177	1	0	0	0	0	1	0	0	0	4720	246	9	5	4757	5	DOCK1	10	129216755	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08	24380821	129216755	6317992	99	30921											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629441	1629441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttggagcccccacaggAgccacagctggagcaggaac	10	3	12	16	0	0	0	0	0	0	0	0	4	0	4	5	4	5	2	5	4	1	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr11:1629441A>G	ENST00000399685.1	-	1	252	c.175T>C	c.(175-177)Tcc>Ccc	p.S59P		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	59	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCCCCACAGGAGCCACAGCTG	0.677													72	193					0	0	0	0	G	1629441	A	G	1629441	3	3	177	1	0	0	0	0	1	0	0	0	8615	304	11	5	545	5	KRTAP5-3	11	1629441	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08		1629441	133377075	100	30922											
DCHS1	8642	broad.mit.edu	37	chr11	6653621	6653621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccaaaggggctacttGctccctctgctgcaaggtga	8	8	12	13	0	1	1	0	1	1	0	2	1	2	1	3	4	4	4	3	4	3	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr11:6653621G>T	ENST00000299441.3	-	6	3533	c.3122C>A	c.(3121-3123)gCa>gAa	p.A1041E	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1041	Cadherin 10.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGCTACTTGCTCCCTCTGC	0.597													15	38					2.23348e-06	2.36417e-06	1	0	T	6653621	G	T	6653621	3	4	177	1	0	0	0	0	1	0	0	0	4319	1319	46	4	6838	4	DCHS1	11	6653621	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	5024180	6653621	128352895	101	30923											
PPFIBP2	8495	broad.mit.edu	37	chr11	7631535	7631535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcaggagctgctaagccGcacatctcttgagacccaga	10	8	10	13	1	1	2	0	1	1	2	2	4	1	3	2	1	4	4	2	1	1	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr11:7631535G>A	ENST00000299492.4	+	6	888	c.500G>A	c.(499-501)cGc>cAc	p.R167H	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.R24H|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.R55H|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.R9H	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	167					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTGCTAAGCCGCACATCTCTT	0.493													4	180					0	0	0	0	A	7631535	G	A	7631535	3	1	177	1	0	0	0	0	1	0	0	0	12385	1087	38	1	518	1	PPFIBP2	11	7631535	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	977914	7631535	127374981	102	30924											
SLC15A3	51296	broad.mit.edu	37	chr11	60709581	60709581	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaaatgtttgggatgtGgaggtgaagaccctgcagga	11	9	17	4	0	0	2	0	1	0	1	0	6	0	6	1	5	1	2	1	5	3	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr11:60709581G>C	ENST00000227880.3	-	4	1266	c.1033C>G	c.(1033-1035)Cac>Gac	p.H345D		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	345					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TTTGGGATGTGGAGGTGAAGA	0.577													33	111					0	0	0	0	C	60709581	G	C	60709581	3	2	177	1	0	0	0	0	1	0	0	0	14488	1348	47	4	732	4	SLC15A3	11	60709581	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	53078046	60709581	74296935	103	30925											
SLC6A13	6540	broad.mit.edu	37	chr12	330578	330578	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagggttccgagtctgtaGaggctccaggcaggaatgca	9	9	15	8	1	1	2	0	1	1	1	3	4	3	3	2	4	1	5	2	4	2	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:330578G>A	ENST00000343164.4	-	14	1702	c.1650C>T	c.(1648-1650)ctC>ctT	p.L550L	SLC6A13_ENST00000445055.2_Silent_p.L458L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	550					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CGAGTCTGTAGAGGCTCCAGG	0.632													8	15					0	0	0	0	A	330578	G	A	330578	2	1	177	1	0	0	0	0	0	0	0	1	14764	929	33	2		2	SLC6A13	12	330578	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08		330578	133521317	104	30926											
TAS2R7	50837	broad.mit.edu	37	chr12	10954990	10954990	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacaatctaatagtattacGcacaatagacaaattctgga	19	10	5	7	1	2	1	0	0	2	1	2	2	2	2	0	1	2	2	0	1	9	6	rs141765045		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:10954990G>A	ENST00000240687.2	-	1	236	c.180C>T	c.(178-180)tgC>tgT	p.C60C		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	60					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						ATAGTATTACGCACAATAGAC	0.378													26	64					0	0	0	0	A	10954990	G	A	10954990	2	1	177	1	0	0	0	0	0	0	0	1	15677	1079	38	1		1	TAS2R7	12	10954990	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	10624412	10954990	122896905	105	30927											
CEP290	80184	broad.mit.edu	37	chr12	88480186	88480186	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accttttgtgccgcatttagTatttcattttgctgacggtc	6	18	8	9	2	1	1	1	1	0	0	2	1	1	1	2	1	2	3	2	1	2	8			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:88480186T>C	ENST00000552810.1	-	33	4627	c.4284A>G	c.(4282-4284)atA>atG	p.I1428M	CEP290_ENST00000397838.3_Missense_Mutation_p.I488M|CEP290_ENST00000309041.7_Missense_Mutation_p.I1430M|CEP290_ENST00000547691.2_Missense_Mutation_p.I488M	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1428					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CCGCATTTAGTATTTCATTTT	0.363													5	17					0	0	0	0	C	88480186	T	C	88480186	3	2	177	1	0	0	0	0	1	0	0	0	3282	1628	57	5	3243	5	CEP290	12	88480186	Missense_Mutation	SNP	T	TCGA-CR-6471-01A-11D-1870-08	77525196	88480186	45371709	106	30928											
UTP20	27340	broad.mit.edu	37	chr12	101748816	101748816	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctcaaaacaaggaagaaAtagagagaacaattaaaaat	23	7	6	5	0	1	3	1	0	0	3	2	5	2	4	1	1	2	0	1	1	11	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:101748816A>G	ENST00000261637.4	+	41	5488	c.5314A>G	c.(5314-5316)Ata>Gta	p.I1772V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1772					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAGGAAGAAATAGAGAGAAC	0.433													8	47					0	0	0	0	G	101748816	A	G	101748816	3	3	177	1	0	0	0	0	1	0	0	0	17195	101	4	5	5476	5	UTP20	12	101748816	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08	13268630	101748816	32103079	107	30929											
GNPTAB	79158	broad.mit.edu	37	chr12	102153816	102153816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cattccacttaccaggttggGatcatagtaggattcctgag	10	12	10	9	0	1	1	1	1	0	0	3	3	3	3	3	3	1	2	3	3	3	6			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:102153816G>A	ENST00000299314.7	-	16	3503	c.3241C>T	c.(3241-3243)Ccc>Tcc	p.P1081S		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1081					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACCAGGTTGGGATCATAGTAG	0.388													15	47					0	0	0	0	A	102153816	G	A	102153816	3	1	177	1	0	0	0	0	1	0	0	0	6596	1174	41	2	553	2	GNPTAB	12	102153816	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	405000	102153816	31698079	108	30930											
TRPV4	59341	broad.mit.edu	37	chr12	110240837	110240837	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcgagttaatgaactccCtcatgttgccggtgcgctcc	7	10	12	12	3	1	1	1	1	0	0	3	2	3	1	3	2	3	3	3	2	2	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:110240837C>A	ENST00000418703.2	-	3	765	c.671G>T	c.(670-672)aGg>aTg	p.R224M	TRPV4_ENST00000541794.1_Missense_Mutation_p.R224M|TRPV4_ENST00000537083.1_Missense_Mutation_p.R224M|TRPV4_ENST00000536838.1_Missense_Mutation_p.R190M|TRPV4_ENST00000392719.2_Missense_Mutation_p.R224M|TRPV4_ENST00000544971.1_Missense_Mutation_p.R224M|TRPV4_ENST00000261740.2_Missense_Mutation_p.R224M|TRPV4_ENST00000346520.2_Missense_Mutation_p.R224M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	224					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AATGAACTCCCTCATGTTGCC	0.632													15	29					4.7546e-09	5.19872e-09	1	0	A	110240837	C	A	110240837	3	1	177	1	0	0	0	0	1	0	0	0	16693	681	24	4	1996	4	TRPV4	12	110240837	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	8087021	110240837	23611058	109	30931											
SPPL3	121665	broad.mit.edu	37	chr12	121206162	121206162	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttttccaggcagagacaggcGaggaacatcacgcccaacat	13	6	10	12	2	1	1	1	0	0	1	2	4	2	2	2	3	2	1	2	3	2	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:121206162G>C	ENST00000353487.2	-	8	1242	c.739C>G	c.(739-741)Cgc>Ggc	p.R247G		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	248						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAGACAGGCGAGGAACATCA	0.562													26	99					0	0	0	0	C	121206162	G	C	121206162	3	2	177	1	0	0	0	0	1	0	0	0	15180	1058	37	3	431	3	SPPL3	12	121206162	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	10965325	121206162	12645733	110	30932											
CAMKK2	10645	broad.mit.edu	37	chr12	121682412	121682412	+	Frame_Shift_Del	DEL	T	T	-																															gactcacattccctggttggTtttttgctggaatcaccaga																										TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:121682412delT	ENST00000324774.5	-	16	2388	c.1560delA	c.(1558-1560)aafs	p.K520fs	CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000545538.1_Frame_Shift_Del_p.K307fs|CAMKK2_ENST00000446440.2_Frame_Shift_Del_p.K477fs|CAMKK2_ENST00000412367.2_Intron|CAMKK2_ENST00000404169.3_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000402834.4_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000392473.2_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000392474.2_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000347034.2_Frame_Shift_Del_p.K477fs|CAMKK2_ENST00000337174.3_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	520					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCTGGTTGGTTTTTTGCTGG	0.627													2	4	---	---	---	---					-	121682412	T	-	121682412	7	5	177	1	0	1	0	1	0	0	0	0	2632	1722	60	0	224	0	CAMKK2	12	121682412	Frame_Shift_Del	DEL	T	TCGA-CR-6471-01A-11D-1870-08	476250	121682412	12169483	111	30933											
WASF3	10810	broad.mit.edu	37	chr13	27257005	27257005	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccgggtcttctctttcGtcctccccaatgcatggccc	3	12	9	17	2	2	0	0	0	2	0	7	0	5	0	5	3	1	1	5	3	1	2	rs148684191		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr13:27257005G>A	ENST00000361042.4	+	9	1461	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	WASF3_ENST00000335327.5_Silent_p.S415S			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	415					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTTCTCTTTCGTCCTCCCCAA	0.677													27	91					0	0	0	0	A	27257005	G	A	27257005	2	1	177	1	0	0	0	0	0	0	0	1	17350	1132	40	1		1	WASF3	13	27257005	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08		27257005	87912873	112	30934											
DOCK9	23348	broad.mit.edu	37	chr13	99476709	99476709	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatggaggcctcctcgtcGatgtttggggtaatgaccct	7	12	12	10	2	1	1	1	1	0	0	4	3	2	2	3	4	0	2	3	4	1	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr13:99476709G>T	ENST00000376460.1	-	46	5153	c.5073C>A	c.(5071-5073)atC>atA	p.I1691I	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Silent_p.I1692I	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1692	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTCCTCGTCGATGTTTGGGG	0.537													32	111					1.36161e-19	1.58457e-19	1	0	T	99476709	G	T	99476709	2	4	177	1	0	0	0	0	0	0	0	1	4730	1048	37	3		3	DOCK9	13	99476709	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	72219704	99476709	15693169	113	30935											
MYH6	4624	broad.mit.edu	37	chr14	23862217	23862217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccagtttccgctttgctCgctccaggtccatgcgcacc	4	11	8	18	3	0	0	0	0	0	0	5	0	4	0	6	1	2	5	6	1	0	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr14:23862217C>T	ENST00000405093.3	-	24	3225	c.3155G>A	c.(3154-3156)cGa>cAa	p.R1052Q	MYH6_ENST00000356287.3_Missense_Mutation_p.R1052Q	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1052					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGCTTTGCTCGCTCCAGGTC	0.488													31	73					0	0	0	0	T	23862217	C	T	23862217	3	4	177	1	0	0	0	0	1	0	0	0	10108	884	31	1	2728	1	MYH6	14	23862217	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08		23862217	83487323	114	30936											
RTF1	23168	broad.mit.edu	37	chr15	41750014	41750014	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctggaacagatgacagAgaaagagagagagcaagaac	18	3	13	7	1	1	6	0	1	1	5	1	10	1	7	1	1	3	1	1	1	4	0			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr15:41750014A>G	ENST00000389629.4	+	4	614	c.602A>G	c.(601-603)gAg>gGg	p.E201G		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	201	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CAGATGACAGAGAAAGAGAGA	0.517													27	71					0	0	0	0	G	41750014	A	G	41750014	3	3	177	1	0	0	0	0	1	0	0	0	13806	304	11	5	616	5	RTF1	15	41750014	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08		41750014	60781378	115	30937											
RFX7	64864	broad.mit.edu	37	chr15	56387585	56387586	+	Frame_Shift_Ins	INS	-	-	A																															ttagtgatttgttgccatccINSatttggattaaagctgccaa																										TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr15:56387585_56387586insA	ENST00000423270.1	-	9	2339_2340	c.2340_2341insT	c.(2338-2343)aagatgfs	p.KM780fs	RFX7_ENST00000559447.2_Frame_Shift_Ins_p.KM683fs|RFX7_ENST00000422057.1_Frame_Shift_Ins_p.KM683fs|RFX7_ENST00000317318.6_Frame_Shift_Ins_p.KM780fs	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	683					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGTTGCCATCCATTTGGATTAA	0.371													28	81	---	---	---	---					A	56387586	-	A	56387585	7	5	177	1	0	1	1	0	0	0	0	0	13350	603	21	0	2045	0	RFX7	15	56387585	Frame_Shift_Ins	INS	-	TCGA-CR-6471-01A-11D-1870-08	14637571	56387585	46143807	116	30938											
IGDCC3	9543	broad.mit.edu	37	chr15	65621833	65621833	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccagctggccccgctgTccccgtctcgccccatttag	3	8	10	20	4	1	0	0	0	1	0	3	0	2	0	7	2	1	2	7	2	1	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr15:65621833T>G	ENST00000327987.4	-	13	2351	c.2100A>C	c.(2098-2100)ggA>ggC	p.G700G		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	700										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCCCGCTGTCCCCGTCTCG	0.647													33	59					0	0	0	0	G	65621833	T	G	65621833	2	3	177	1	0	0	0	0	0	0	0	1	7621	1654	58	5		5	IGDCC3	15	65621833	Silent	SNP	T	TCGA-CR-6471-01A-11D-1870-08	9234248	65621833	36909559	117	30939											
ACAN	176	broad.mit.edu	37	chr15	89398654	89398654	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgagatcctagagggCtctgcctctggagttgggga	7	9	17	8	0	2	2	0	1	2	2	3	6	3	5	2	5	2	3	2	5	1	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr15:89398654C>T	ENST00000439576.2	+	12	3212	c.2838C>T	c.(2836-2838)ggC>ggT	p.G946G	ACAN_ENST00000352105.7_Silent_p.G946G|ACAN_ENST00000559004.1_Silent_p.G946G|ACAN_ENST00000561243.1_Silent_p.G946G	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	946					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCCTAGAGGGCTCTGCCTCTG	0.557													21	63					0	0	0	0	T	89398654	C	T	89398654	2	4	177	1	0	0	0	0	0	0	0	1	117	784	28	4		4	ACAN	15	89398654	Silent	SNP	C	TCGA-CR-6471-01A-11D-1870-08	23776821	89398654	13132738	118	30940											
FES	2242	broad.mit.edu	37	chr15	91433462	91433462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggccccggcgagccccCgcctgtgctgctcctgcagg	2	6	14	19	3	0	0	0	0	0	0	1	1	1	0	7	3	4	3	7	3	0	0			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr15:91433462C>T	ENST00000328850.3	+	9	1332	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	FES_ENST00000394300.3_Missense_Mutation_p.P339L|FES_ENST00000444422.2_Missense_Mutation_p.P397L|FES_ENST00000394302.1_Missense_Mutation_p.P339L|FES_ENST00000414248.2_Missense_Mutation_p.P339L|FES_ENST00000448367.1_3'UTR|FES_ENST00000450438.2_Missense_Mutation_p.P339L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	397					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCGAGCCCCCGCCTGTGCTG	0.726													11	22					0	0	0	0	T	91433462	C	T	91433462	3	4	177	1	0	0	0	0	1	0	0	0	5865	652	23	1	1220	1	FES	15	91433462	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	2034808	91433462	11097930	119	30941											
RAB40C	57799	broad.mit.edu	37	chr16	640410	640410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggacggcgcggcagAgtccccgtacgcctacagta	8	5	13	15	5	0	1	0	0	0	1	1	2	1	2	4	3	3	4	4	3	3	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:640410A>G	ENST00000535977.1	+	2	341	c.119A>G	c.(118-120)gAg>gGg	p.E40G	RAB40C_ENST00000248139.3_Missense_Mutation_p.E40G|RAB40C_ENST00000539661.1_Missense_Mutation_p.E40G|RAB40C_ENST00000538492.1_Missense_Mutation_p.E40G	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	40					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GGCGCGGCAGAGTCCCCGTAC	0.716													7	24					0	0	0	0	G	640410	A	G	640410	3	3	177	1	0	0	0	0	1	0	0	0	13024	304	11	5	121	5	RAB40C	16	640410	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08		640410	89714343	120	30942											
PTX4	390667	broad.mit.edu	37	chr16	1538463	1538463	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgacctcccagtttccactCcccatgacactacccggccc	7	8	6	20	1	0	2	0	2	0	0	3	2	3	2	7	1	1	1	7	1	1	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:1538463C>T	ENST00000293922.1	-	1	5	c.6G>A	c.(4-6)ggG>ggA	p.G2G	PTX4_ENST00000447419.2_Intron|PTX4_ENST00000440447.2_Intron	NM_001013658.1	NP_001013680.1	Q96A99	PTX4_HUMAN	pentraxin 4, long	0			G -> E (in dbSNP:rs2745103).			extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AGTTTCCACTCCCCATGACAC	0.652													3	33					0	0	0	0	T	1538463	C	T	1538463	2	4	177	1	0	0	0	0	0	0	0	1	12905	842	30	2		2	PTX4	16	1538463	Silent	SNP	C	TCGA-CR-6471-01A-11D-1870-08	898053	1538463	88816290	121	30943											
CREBBP	1387	broad.mit.edu	37	chr16	3781253	3781253	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcactcgttgcaggtgtaGacaaagcggtcctggccctg	7	10	13	11	2	0	1	0	0	0	1	2	1	1	1	2	3	3	4	2	3	2	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:3781253G>C	ENST00000262367.5	-	30	5921	c.5112C>G	c.(5110-5112)gtC>gtG	p.V1704V	CREBBP_ENST00000382070.3_Silent_p.V1666V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1704	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCAGGTGTAGACAAAGCGGT	0.662			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						13	57					0	0	0	0	C	3781253	G	C	3781253	2	2	177	1	0	0	0	0	0	0	0	1	3891	929	33	2		2	CREBBP	16	3781253	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	2242790	3781253	86573500	122	30944											
CLEC16A	23274	broad.mit.edu	37	chr16	11114117	11114117	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagcacctccgtgcaggaGcagaacaccacggacgagga	12	2	13	14	3	0	1	0	0	0	1	1	5	1	4	4	3	4	3	4	3	1	0			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:11114117G>A	ENST00000409790.1	+	12	1601	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E	CLEC16A_ENST00000409552.3_Silent_p.E439E	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	457								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCGTGCAGGAGCAGAACACCA	0.597													11	28					0	0	0	0	A	11114117	G	A	11114117	2	1	177	1	0	0	0	0	0	0	0	1	3530	962	34	4		4	CLEC16A	16	11114117	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	7332864	11114117	79240636	123	30945											
LOC81691	81691	broad.mit.edu	37	chr16	20856094	20856094	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctattgcaggagccccgcctCtttcttggcctggaagctgt	5	12	11	13	1	2	0	0	0	2	0	2	2	2	2	4	3	3	2	4	3	2	4			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:20856094C>G	ENST00000261377.6	+	17	2072	c.1863C>G	c.(1861-1863)ctC>ctG	p.L621L	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Silent_p.L621L|AC004381.6_ENST00000348433.6_Silent_p.L590L	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AGCCCCGCCTCTTTCTTGGCC	0.428													29	82					0	0	0	0	G	20856094	C	G	20856094	2	3	177	1	0	0	0	0	0	0	0	1	8954	900	32	2		2	LOC81691	16	20856094	Silent	SNP	C	TCGA-CR-6471-01A-11D-1870-08	9741977	20856094	69498659	124	30946											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25258086	25258086	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagacttgcggataaattcGatgcctatttcatcatcatc	11	14	6	10	2	4	1	4	0	0	1	6	3	4	2	1	1	2	0	1	1	3	5	rs149172025	by1000genomes	TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:25258086G>A	ENST00000328086.7	-	5	2234	c.1431C>T	c.(1429-1431)atC>atT	p.I477I		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	477					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGATAAATTCGATGCCTATTT	0.448													28	92					0	0	0	0	A	25258086	G	A	25258086	2	1	177	1	0	0	0	0	0	0	0	1	17782	1048	37	1		1	ZKSCAN2	16	25258086	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	4401992	25258086	65096667	125	30947											
SETD1A	9739	broad.mit.edu	37	chr16	30980949	30980949	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgacgaggaagatgaGgaagatgaagatcgagagga	17	4	18	2	2	0	7	0	3	0	4	1	14	0	11	0	4	0	0	0	4	3	0			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:30980949G>A	ENST00000262519.8	+	12	3641	c.2955G>A	c.(2953-2955)gaG>gaA	p.E985E		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	985	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGGAAGATGAGGAAGATGAAG	0.507													7	31					0	0	0	0	A	30980949	G	A	30980949	2	1	177	1	0	0	0	0	0	0	0	1	14217	991	35	4		4	SETD1A	16	30980949	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	5722863	30980949	59373804	126	30948											
MBTPS1	8720	broad.mit.edu	37	chr16	84115471	84115472	+	Frame_Shift_Ins	INS	-	-	T																															ctgacgcgatcagggcctgcINSttcatactggcgggattcac																										TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:84115471_84115472insT	ENST00000343411.3	-	11	1823_1824	c.1328_1329insA	c.(1327-1329)acafs	p.T443fs	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	443					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCAGGGCCTGCTTCATACTGGC	0.525													21	49	---	---	---	---					T	84115472	-	T	84115471	7	5	177	1	0	1	1	0	0	0	0	0	9430	796	28	0	1881	0	MBTPS1	16	84115471	Frame_Shift_Ins	INS	-	TCGA-CR-6471-01A-11D-1870-08	53134522	84115471	6239282	127	30949											
TAF1C	9013	broad.mit.edu	37	chr16	84217036	84217036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcagtcacatccagcaCgactcggggccgcttccgat	7	8	10	16	4	2	0	2	0	0	0	5	2	4	0	3	2	2	3	3	2	0	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:84217036C>T	ENST00000567759.1	-	4	480	c.298G>A	c.(298-300)Gtg>Atg	p.V100M	TAF1C_ENST00000341690.6_Missense_Mutation_p.V33M|TAF1C_ENST00000566732.1_Missense_Mutation_p.V100M|TAF1C_ENST00000378541.4_Missense_Mutation_p.V100M|TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000541676.1_Missense_Mutation_p.V33M	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	100					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						ACATCCAGCACGACTCGGGGC	0.637													8	16					0	0	0	0	T	84217036	C	T	84217036	3	4	177	1	0	0	0	0	1	0	0	0	15612	536	19	1	2355	1	TAF1C	16	84217036	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	101565	84217036	6137717	128	30950											
GEMIN4	50628	broad.mit.edu	37	chr17	649755	649755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcaacttttcagagaggcCctttcgcccccaggaacgca	10	7	9	15	2	1	1	1	0	0	1	2	3	1	2	3	2	3	2	3	2	2	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:649755C>T	ENST00000576778.1	-	1	2836	c.1495G>A	c.(1495-1497)Ggc>Agc	p.G499S	GEMIN4_ENST00000319004.5_Missense_Mutation_p.G510S			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	510					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCAGAGAGGCCCTTTCGCCCC	0.527													14	25					0	0	0	0	T	649755	C	T	649755	3	4	177	1	0	0	0	0	1	0	0	0	6381	623	22	4	1652	4	GEMIN4	17	649755	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08		649755	80545455	129	30951											
KIF1C	10749	broad.mit.edu	37	chr17	4926827	4926827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcctgaaggatcagaggCagcagaggaggcagccccca	11	2	14	14	1	1	3	1	1	0	2	1	5	1	5	4	4	2	3	4	4	1	0			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:4926827C>T	ENST00000320785.5	+	23	3050	c.2693C>T	c.(2692-2694)gCa>gTa	p.A898V		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	898					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGATCAGAGGCAGCAGAGGAG	0.637													11	35					0	0	0	0	T	4926827	C	T	4926827	3	4	177	1	0	0	0	0	1	0	0	0	8336	710	25	4	2775	4	KIF1C	17	4926827	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	4277072	4926827	76268383	130	30952											
ZNF594	84622	broad.mit.edu	37	chr17	5086056	5086056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaataaggagtgaacgcCgcctgaaggctttcccacat	11	9	11	10	2	0	3	0	3	0	0	1	4	1	4	3	2	1	2	3	2	4	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:5086056C>T	ENST00000399604.4	-	1	1636	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q	ZNF594_ENST00000575779.1_Missense_Mutation_p.R499Q			Q96JF6	ZN594_HUMAN	zinc finger protein 594	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GAGTGAACGCCGCCTGAAGGC	0.478													11	58					0	0	0	0	T	5086056	C	T	5086056	3	4	177	1	0	0	0	0	1	0	0	0	18119	652	23	1	931	1	ZNF594	17	5086056	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	159229	5086056	76109154	131	30953											
KRBA2	124751	broad.mit.edu	37	chr17	8273377	8273377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccttatgtacataatacCgtattcgatcacgttctcca	10	15	4	12	3	2	0	1	0	1	0	5	1	3	0	3	0	2	3	3	0	5	8			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:8273377C>T	ENST00000396267.1	-	2	1139	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000331336.2_Missense_Mutation_p.R185Q|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000583963.1_RNA			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	185	KRAB.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TACATAATACCGTATTCGATC	0.443													47	127					0	0	0	0	T	8273377	C	T	8273377	3	4	177	1	0	0	0	0	1	0	0	0	8492	652	23	1	928	1	KRBA2	17	8273377	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	3187321	8273377	72921833	132	30954											
MYO18A	399687	broad.mit.edu	37	chr17	27423781	27423781	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcagggggcccacccacctCctctgcttcttctccagttc	4	10	9	18	0	3	0	0	0	3	0	6	0	4	0	5	3	1	3	5	3	0	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:27423781C>T	ENST00000527372.1	-	28	4563	c.4383G>A	c.(4381-4383)agG>agA	p.R1461R	MYO18A_ENST00000533112.1_Silent_p.R1461R|MYO18A_ENST00000531253.1_Silent_p.R1461R|MYO18A_ENST00000354329.4_Silent_p.R1461R	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1461					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCACCCACCTCCTCTGCTTCT	0.627													3	10					0	0	0	0	T	27423781	C	T	27423781	2	4	177	1	0	0	0	0	0	0	0	1	10135	854	30	2		2	MYO18A	17	27423781	Silent	SNP	C	TCGA-CR-6471-01A-11D-1870-08	19150404	27423781	53771429	133	30955											
EPN3	55040	broad.mit.edu	37	chr17	48613879	48613879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctcagccctccacctcCggcgggggcgagggccaccc	4	3	14	20	3	1	0	1	0	0	0	3	1	3	0	7	5	1	0	7	5	0	0			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:48613879C>T	ENST00000537145.1	+	2	346	c.209C>T	c.(208-210)cCg>cTg	p.P70L	EPN3_ENST00000268933.3_5'UTR|EPN3_ENST00000541226.1_5'UTR			Q9H201	EPN3_HUMAN	epsin 3	206	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCTCCACCTCCGGCGGGGGCG	0.642													18	46					0	0	0	0	T	48613879	C	T	48613879	3	4	177	1	0	0	0	0	1	0	0	0	5225	667	23	1		1	EPN3	17	48613879	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	21190098	48613879	32581331	134	30956											
CETN1	1068	broad.mit.edu	37	chr18	580607	580607	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgggcttcgaacccaggaagGaagagatgaagaaaatgatc	16	6	13	6	1	0	4	0	2	0	2	2	8	0	6	1	3	1	1	1	3	6	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:580607G>C	ENST00000327228.3	+	1	241	c.199G>C	c.(199-201)Gaa>Caa	p.E67Q		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	67	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						ACCCAGGAAGGAAGAGATGAA	0.557													10	34					0	0	0	0	C	580607	G	C	580607	3	2	177	1	0	0	0	0	1	0	0	0	3303	1175	41	2	201	2	CETN1	18	580607	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08		580607	77496641	135	30957											
SMCHD1	23347	broad.mit.edu	37	chr18	2732451	2732451	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtatgatgaaggagaaagAgaaatcaatataacatcagc	20	8	9	4	0	2	4	2	2	0	2	2	6	2	4	0	1	2	1	0	1	7	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:2732451A>G	ENST00000320876.6	+	25	3575	c.3237A>G	c.(3235-3237)agA>agG	p.R1079R	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.R1079R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1079					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAGGAGAAAGAGAAATCAATA	0.289													6	28					0	0	0	0	G	2732451	A	G	2732451	2	3	177	1	0	0	0	0	0	0	0	1	14876	301	11	5		5	SMCHD1	18	2732451	Silent	SNP	A	TCGA-CR-6471-01A-11D-1870-08	2151844	2732451	75344797	136	30958											
MIB1	57534	broad.mit.edu	37	chr18	19379870	19379870	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgacctcaatgaagaattaGttaaggctgctgccaatgga	13	10	11	7	0	1	3	1	2	0	1	1	4	1	4	2	2	2	3	2	2	6	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:19379870G>C	ENST00000261537.6	+	9	1570	c.1306G>C	c.(1306-1308)Gtt>Ctt	p.V436L	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	436					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGAAGAATTAGTTAAGGCTGC	0.348													21	55					0	0	0	0	C	19379870	G	C	19379870	3	2	177	1	0	0	0	0	1	0	0	0	9635	1029	36	4	1340	4	MIB1	18	19379870	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	16647419	19379870	58697378	137	30959											
SMAD2	4087	broad.mit.edu	37	chr18	45394805	45394805	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttaggatctcggtgtgtcGgggcactaatactggaggca	8	11	15	7	2	1	0	0	0	1	0	3	2	1	2	0	6	1	3	0	6	3	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:45394805G>A	ENST00000402690.2	-	5	938	c.544C>T	c.(544-546)Cga>Tga	p.R182*	SMAD2_ENST00000591214.1_Nonsense_Mutation_p.R152*|SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.R152*|SMAD2_ENST00000262160.6_Nonsense_Mutation_p.R182*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.R152*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	182					anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TCGGTGTGTCGGGGCACTAAT	0.438													12	44					0	0	0	0	A	45394805	G	A	45394805	4	1	177	1	0	0	0	0	0	1	0	0	14846	1124	39	1	887	1	SMAD2	18	45394805	Nonsense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	26014935	45394805	32682443	138	30960											
CD226	10666	broad.mit.edu	37	chr18	67563082	67563082	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctgcagttgctcactatTtgtcttgggaacttggaggt	6	15	13	7	0	2	0	1	0	1	0	2	2	2	2	0	4	3	4	0	4	2	5			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:67563082T>A	ENST00000280200.4	-	4	850	c.582A>T	c.(580-582)caA>caT	p.Q194H	CD226_ENST00000581982.1_Missense_Mutation_p.Q39H|CD226_ENST00000577287.1_Missense_Mutation_p.Q39H|CD226_ENST00000582621.1_Missense_Mutation_p.Q194H	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	194	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TGCTCACTATTTGTCTTGGGA	0.542													41	75					0	0	0	0	A	67563082	T	A	67563082	3	1	177	1	0	0	0	0	1	0	0	0	3015	1838	64	5	444	5	CD226	18	67563082	Missense_Mutation	SNP	T	TCGA-CR-6471-01A-11D-1870-08	22168277	67563082	10514166	139	30961											
ZNF407	55628	broad.mit.edu	37	chr18	72343009	72343009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaataaacccgaaaatgatGaggatgaaaagataaacaaa	24	5	8	4	1	0	5	0	3	0	2	0	7	0	6	1	1	2	0	1	1	10	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:72343009G>A	ENST00000299687.5	+	1	34	c.34G>A	c.(34-36)Gag>Aag	p.E12K	ZNF407_ENST00000309902.6_Missense_Mutation_p.E12K|ZNF407_ENST00000582337.1_Missense_Mutation_p.E12K|ZNF407_ENST00000577538.1_Missense_Mutation_p.E12K	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGAAAATGATGAGGATGAAAA	0.408													7	18					0	0	0	0	A	72343009	G	A	72343009	3	1	177	1	0	0	0	0	1	0	0	0	17982	1291	45	2	36	2	ZNF407	18	72343009	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	4779927	72343009	5734239	140	30962											
NFATC1	4772	broad.mit.edu	37	chr18	77208983	77208983	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagaacagcatgcgagccGtgtaagccgcgggggacctc	9	4	16	12	5	0	1	0	0	0	1	1	4	0	2	3	3	5	2	3	3	2	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:77208983G>A	ENST00000253506.5	+	4	1957	c.1589_splice	c.e4+1	p.V530_splice	NFATC1_ENST00000591814.1_Splice_Site_p.V530_splice|NFATC1_ENST00000318065.5_Splice_Site_p.V517_splice|NFATC1_ENST00000586434.1_Splice_Site_p.V517_splice|NFATC1_ENST00000545796.1_Splice_Site_p.V58_splice|NFATC1_ENST00000542384.1_Splice_Site_p.V530_splice|NFATC1_ENST00000592223.1_Splice_Site_p.V517_splice|NFATC1_ENST00000427363.2_Splice_Site_p.V530_splice|NFATC1_ENST00000397790.2_Splice_Site_p.V58_splice|NFATC1_ENST00000587635.1_Splice_Site_p.V530_splice|NFATC1_ENST00000329101.4_Splice_Site_p.V517_splice	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	530	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CATGCGAGCCGTGTAAGCCGC	0.687													8	27					0	0	0	0	A	77208983	G	A	77208983	5	1	177	1	0	0	0	0	0	0	1	0	10431	1159	40	1	1694	1	NFATC1	18	77208983	Splice_Site	SNP	G	TCGA-CR-6471-01A-11D-1870-08	4865974	77208983	868265	141	30963											
FUT5	2527	broad.mit.edu	37	chr19	5867522	5867522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggatcagtagggtggggtggGcaggggtcgccatgctgtcc	5	8	20	8	1	1	0	1	0	0	0	3	1	2	1	2	7	1	3	2	7	1	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:5867522G>A	ENST00000252675.5	-	5	777	c.215C>T	c.(214-216)gCc>gTc	p.A72V	FUT5_ENST00000588525.1_Missense_Mutation_p.A72V			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	72					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GGTGGGGTGGGCAGGGGTCGC	0.662													15	51					0	0	0	0	A	5867522	G	A	5867522	3	1	177	1	0	0	0	0	1	0	0	0	6155	1203	42	4	913	4	FUT5	19	5867522	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08		5867522	53261461	142	30964											
ZNF440	126070	broad.mit.edu	37	chr19	11942501	11942501	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggatcacactggagagaaAcccaatgcttgtaaagtatg	15	8	11	7	0	1	1	1	0	0	1	1	4	1	3	1	2	2	3	1	2	5	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:11942501A>G	ENST00000304060.5	+	4	674	c.510A>G	c.(508-510)aaA>aaG	p.K170K		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTGGAGAGAAACCCAATGCTT	0.413													54	103					0	0	0	0	G	11942501	A	G	11942501	2	3	177	1	0	0	0	0	0	0	0	1	18008	40	2	5		5	ZNF440	19	11942501	Silent	SNP	A	TCGA-CR-6471-01A-11D-1870-08	6074979	11942501	47186482	143	30965											
ZNF443	10224	broad.mit.edu	37	chr19	12541096	12541096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctttttatgtctatgcaaGgaactgagagaagcaaatgc	13	12	10	6	0	2	2	0	1	2	1	2	4	2	3	0	1	4	2	0	1	6	4			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:12541096G>A	ENST00000301547.5	-	4	2087	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	630					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GTCTATGCAAGGAACTGAGAG	0.403													22	96					0	0	0	0	A	12541096	G	A	12541096	2	1	177	1	0	0	0	0	0	0	0	1	18011	987	35	4		4	ZNF443	19	12541096	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08	598595	12541096	46587887	144	30966											
EPS15L1	58513	broad.mit.edu	37	chr19	16552783	16552783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccaccctccctgtgtatgCcggatcgacctgaaatggga	8	8	10	15	2	0	1	0	1	0	0	2	4	1	3	6	2	1	1	6	2	2	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:16552783C>T	ENST00000597937.1	-	3	89	c.85G>A	c.(85-87)Gca>Aca	p.A29T	CTD-2013N17.4_ENST00000587343.1_RNA|EPS15L1_ENST00000248070.6_Missense_Mutation_p.A29T|EPS15L1_ENST00000455140.2_Missense_Mutation_p.A29T|EPS15L1_ENST00000535753.2_Missense_Mutation_p.A29T|EPS15L1_ENST00000594975.1_Missense_Mutation_p.A29T	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	29	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CCTGTGTATGCCGGATCGACC	0.512											OREG0025335	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	123					0	0	0	0	T	16552783	C	T	16552783	3	4	177	1	0	0	0	0	1	0	0	0	5231	739	26	4	2593	4	EPS15L1	19	16552783	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	4011687	16552783	42576200	145	30967											
KIAA1683	80726	broad.mit.edu	37	chr19	18378184	18378184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggacttgaggccctcgtGctggggctgtggaggcgctt	3	11	17	10	2	0	1	0	1	0	0	1	3	0	3	1	6	1	3	1	6	0	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:18378184G>A	ENST00000392413.3	-	3	381	c.166C>T	c.(166-168)Cac>Tac	p.H56Y	KIAA1683_ENST00000600328.2_Missense_Mutation_p.H56Y|KIAA1683_ENST00000600359.2_Missense_Mutation_p.H10Y	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	56						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGCCCTCGTGCTGGGGCTGT	0.657													31	76					0	0	0	0	A	18378184	G	A	18378184	3	1	177	1	0	0	0	0	1	0	0	0	8302	1319	46	4	3945	4	KIAA1683	19	18378184	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	1825401	18378184	40750799	146	30968											
ZNF99	7652	broad.mit.edu	37	chr19	22941426	22941426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaaaagctttgccacattCttcacatttgcagggtttct	9	16	6	10	0	3	0	1	0	2	0	3	0	3	0	1	1	3	3	1	1	2	6			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:22941426C>T	ENST00000397104.3	-	5	1011	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	ZNF99_ENST00000596209.1_Missense_Mutation_p.E429K					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCCACATTCTTCACATTTG	0.373													13	47					0	0	0	0	T	22941426	C	T	22941426	3	4	177	1	0	0	0	0	1	0	0	0	18297	922	32	2	2112	2	ZNF99	19	22941426	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	4563242	22941426	36187557	147	30969											
GRIK5	2901	broad.mit.edu	37	chr19	42546827	42546827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcggccagctcccgcagCatgtccacgcagaagccctc	8	5	10	18	3	0	1	0	0	0	1	4	1	2	1	4	1	4	5	4	1	1	0			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:42546827C>T	ENST00000262895.3	-	11	1349	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	GRIK5_ENST00000301218.4_Missense_Mutation_p.M450I|GRIK5_ENST00000593562.1_Missense_Mutation_p.M450I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	450						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GCTCCCGCAGCATGTCCACGC	0.677													14	25					0	0	0	0	T	42546827	C	T	42546827	3	4	177	1	0	0	0	0	1	0	0	0	6827	710	25	4	1628	4	GRIK5	19	42546827	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	19605401	42546827	16582156	148	30970											
ZC3H4	23211	broad.mit.edu	37	chr19	47570458	47570458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcccgggcgctgccgggCgttggggggccctgccgtgg	0	5	22	14	6	0	0	0	0	0	0	0	0	0	0	4	7	2	2	4	7	0	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:47570458C>T	ENST00000253048.5	-	15	3104	c.3067G>A	c.(3067-3069)Gcc>Acc	p.A1023T	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1023							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CGCTGCCGGGCGTTGGGGGGC	0.706													13	24					0	0	0	0	T	47570458	C	T	47570458	3	4	177	1	0	0	0	0	1	0	0	0	17665	768	27	1	848	1	ZC3H4	19	47570458	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	5023631	47570458	11558525	149	30971											
PTPRH	5794	broad.mit.edu	37	chr19	55711682	55711682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaatgtgtacaaggttcCgggctcaagtctctcagctg	10	10	12	9	1	3	1	2	0	1	1	5	2	4	1	1	2	2	4	1	2	4	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:55711682C>T	ENST00000376350.3	-	7	1364	c.1342G>A	c.(1342-1344)Gga>Aga	p.G448R	PTPRH_ENST00000263434.5_Missense_Mutation_p.G270R|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	448	Fibronectin type-III 5.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TACAAGGTTCCGGGCTCAAGT	0.522													27	89					0	0	0	0	T	55711682	C	T	55711682	3	4	177	1	0	0	0	0	1	0	0	0	12885	661	23	1	2061	1	PTPRH	19	55711682	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	8141224	55711682	3417301	150	30972											
ZNF460	10794	broad.mit.edu	37	chr19	57803220	57803220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcatgtcagggctcacaagGcaccagtggattcatactgg	10	8	12	11	1	3	0	3	0	0	0	3	1	3	1	1	4	1	3	1	4	2	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:57803220G>T	ENST00000360338.3	+	3	1633	c.1311G>T	c.(1309-1311)agG>agT	p.R437S	ZNF460_ENST00000537645.1_Missense_Mutation_p.R396S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R437S(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCTCACAAGGCACCAGTGGA	0.478													17	48					1.99824e-07	2.16114e-07	1	0	T	57803220	G	T	57803220	3	4	177	1	0	0	0	0	1	0	0	0	18019	1194	42	4	1321	4	ZNF460	19	57803220	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	2091538	57803220	1325763	151	30973											
SIRPB2	284759	broad.mit.edu	37	chr20	1456848	1456848	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgctaaggtgttcatGgctcctgctgggcctgtggt	4	13	13	11	0	1	0	1	0	0	0	3	0	3	0	3	4	2	4	3	4	1	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr20:1456848G>T	ENST00000359801.3	-	5	1029	c.993C>A	c.(991-993)gcC>gcA	p.A331A	SIRPB2_ENST00000444444.1_Silent_p.A233A	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	331						integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGGTGTTCATGGCTCCTGCTG	0.592													36	109					3.21399e-22	3.76226e-22	1	0	T	1456848	G	T	1456848	2	4	177	1	0	0	0	0	0	0	0	1	14422	1335	47	4		4	SIRPB2	20	1456848	Silent	SNP	G	TCGA-CR-6471-01A-11D-1870-08		1456848	61568672	152	30974											
SNAP25	6616	broad.mit.edu	37	chr20	10256162	10256162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgaagacgcagacatgcGcaatgagctggaggagatgc	12	4	16	9	3	0	4	0	1	0	3	0	7	0	5	1	3	3	3	1	3	2	0			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr20:10256162G>A	ENST00000254976.2	+	2	234	c.23G>A	c.(22-24)cGc>cAc	p.R8H	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.R8H	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	8	Interaction with CENPF (By similarity).				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GCAGACATGCGCAATGAGCTG	0.602													7	25					0	0	0	0	A	10256162	G	A	10256162	3	1	177	1	0	0	0	0	1	0	0	0	14918	1087	38	1	25	1	SNAP25	20	10256162	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	8799314	10256162	52769358	153	30975											
DNMT3B	1789	broad.mit.edu	37	chr20	31395666	31395666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggagcgtgcctgtcatccGacacctcttcgcccctctga	5	10	9	17	3	3	1	1	1	2	0	5	3	4	2	5	1	2	0	5	1	0	1	rs121908946		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr20:31395666G>A	ENST00000328111.2	+	23	2840	c.2519G>A	c.(2518-2520)cGa>cAa	p.R840Q	DNMT3B_ENST00000348286.2_Missense_Mutation_p.R757Q|DNMT3B_ENST00000344505.4_Silent_p.P780P|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R832Q|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R715Q|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R681Q|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R820Q	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	840			R -> Q (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTGTCATCCGACACCTCTTC	0.602													35	106					0	0	0	0	A	31395666	G	A	31395666	3	1	177	1	0	0	0	0	1	0	0	0	4713	1058	37	1	2645	1	DNMT3B	20	31395666	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08	21139504	31395666	31629854	154	30976											
KRTAP10-5	386680	broad.mit.edu	37	chr21	46000227	46000227	+	Missense_Mutation	SNP	C	C	T																															gggggaggaggcgcagcaagCcggctggcagcacgagggcg																										TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr21:46000227C>T	ENST00000400372.1	-	1	254	c.229G>A	c.(229-231)Gct>Act	p.A77T	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	77	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						gcgcagcaagccggctggcag	0.677													4	72					0	0	0	0	T	46000227	C	T	46000227	3	4	177	1	0	0	0	0	1	0	0	0	8564	739	26	4	590	4	KRTAP10-5	21	46000227	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08		46000227	2129668	155	30977	235	2									
KRTAP10-5	386680	broad.mit.edu	37	chr21	46000228	46000228	+	Silent	SNP	C	C	T																															ggggaggaggcgcagcaagcCggctggcagcacgagggcgt																										TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr21:46000228C>T	ENST00000400372.1	-	1	253	c.228G>A	c.(226-228)ccG>ccA	p.P76P	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	76	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						cgcagcaagccggctggcagc	0.677													4	71					0	0	0	0	T	46000228	C	T	46000228	2	4	177	1	0	0	0	0	0	0	0	1	8564	639	23	1		1	KRTAP10-5	21	46000228	Silent	SNP	C	TCGA-CR-6471-01A-11D-1870-08	1	46000228	2129667	156	30978	235	2									
RTDR1	27156	broad.mit.edu	37	chr22	23401824	23401824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttggtggcattcaggcgcGctatggtcatgggggagtgc	5	10	17	9	2	2	0	2	0	0	0	2	1	2	1	1	6	1	2	1	6	1	3			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr22:23401824G>A	ENST00000216036.4	-	7	1059	c.863C>T	c.(862-864)gCg>gTg	p.A288V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	288							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		ATTCAGGCGCGCTATGGTCAT	0.657													16	119					0	0	0	0	A	23401824	G	A	23401824	3	1	177	1	0	0	0	0	1	0	0	0	13804	1087	38	1	187	1	RTDR1	22	23401824	Missense_Mutation	SNP	G	TCGA-CR-6471-01A-11D-1870-08		23401824	27902742	157	30979											
LIMK2	3985	broad.mit.edu	37	chr22	31655979	31655979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacgctcatctccatgcCggccaccactgaaggcaggc	8	7	10	16	2	3	1	2	1	1	0	4	1	3	1	4	3	1	2	4	3	1	0			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr22:31655979C>T	ENST00000331728.4	+	5	581	c.467C>T	c.(466-468)cCg>cTg	p.P156L	LIMK2_ENST00000333611.4_Missense_Mutation_p.P135L|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.P78L|LIMK2_ENST00000340552.4_Missense_Mutation_p.P135L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	156	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ATCTCCATGCCGGCCACCACT	0.557													4	77					0	0	0	0	T	31655979	C	T	31655979	3	4	177	1	0	0	0	0	1	0	0	0	8856	652	23	1	542	1	LIMK2	22	31655979	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	8254155	31655979	19648587	158	30980											
EP300	2033	broad.mit.edu	37	chr22	41566460	41566460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaagtgagggagatgattAtatcttccattgccatcctc	11	12	8	10	0	1	3	0	2	1	1	4	4	3	3	4	1	1	0	4	1	3	4			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr22:41566460A>G	ENST00000263253.7	+	27	5556	c.4337A>G	c.(4336-4338)tAt>tGt	p.Y1446C	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1446					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGAGATGATTATATCTTCCAT	0.408			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				52	72					0	0	0	0	G	41566460	A	G	41566460	3	3	177	1	0	0	0	0	1	0	0	0	5186	449	16	5	4443	5	EP300	22	41566460	Missense_Mutation	SNP	A	TCGA-CR-6471-01A-11D-1870-08	9910481	41566460	9738106	159	30981											
HUWE1	10075	broad.mit.edu	37	chrX	53587364	53587365	+	Frame_Shift_Ins	INS	-	-	G																															tagggatatttcctggggatINSggggggatgtctgctgcaag																										TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chrX:53587364_53587365insG	ENST00000342160.3	-	55	7977_7978	c.7520_7521insC	c.(7519-7521)ctcfs	p.L2507fs	HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.L2507fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2507					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTCCTGGGGATGGGGGGATGTC	0.495													21	18	---	---	---	---					G	53587365	-	G	53587364	7	5	177	1	0	1	1	0	0	0	0	0	7514	1451	51	0	5719	0	HUWE1	23	53587364	Frame_Shift_Ins	INS	-	TCGA-CR-6471-01A-11D-1870-08		53587364	101683196	160	30982											
TEX13A	56157	broad.mit.edu	37	chrX	104464900	104464900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcctctttgacctcaCtgggcacctcgctgtcctcc	4	11	9	17	1	2	1	1	1	1	0	5	1	4	1	5	2	1	3	5	2	0	1			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chrX:104464900C>T	ENST00000372578.3	-	2	293	c.182G>A	c.(181-183)aGt>aAt	p.S61N	TEX13A_ENST00000413579.1_Missense_Mutation_p.S61N|TEX13A_ENST00000372575.1_Missense_Mutation_p.S61N|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	61						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TTTGACCTCACTGGGCACCTC	0.592													15	20					0	0	0	0	T	104464900	C	T	104464900	3	4	177	1	0	0	0	0	1	0	0	0	15870	565	20	4	1057	4	TEX13A	23	104464900	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	50877536	104464900	50805660	161	30983											
TRPC5	7224	broad.mit.edu	37	chrX	111195420	111195420	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttctcgttctcaatggCaatgagcagggcactccggc	8	9	12	12	2	2	1	1	1	2	0	5	1	3	1	1	4	1	5	1	4	2	2			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chrX:111195420C>A	ENST00000262839.2	-	2	1147	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	77					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCTCAATGGCAATGAGCAGG	0.527													26	39					2.85442e-18	3.30249e-18	1	0	A	111195420	C	A	111195420	3	1	177	1	0	0	0	0	1	0	0	0	16677	710	25	4	2732	4	TRPC5	23	111195420	Missense_Mutation	SNP	C	TCGA-CR-6471-01A-11D-1870-08	6730520	111195420	44075140	162	30984											
DNAJC11	55735	broad.mit.edu	37	chr1	6698379	6698379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactccgcctcttgcttcttCtgcagcacatcggtggcggc	4	11	11	15	3	3	0	0	0	3	0	5	1	4	0	2	3	3	3	2	3	0	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:6698379C>T	ENST00000377577.5	-	12	1422	c.1299G>A	c.(1297-1299)caG>caA	p.Q433Q	DNAJC11_ENST00000542246.1_Silent_p.Q395Q|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Silent_p.Q343Q|DNAJC11_ENST00000294401.7_Silent_p.Q381Q|DNAJC11_ENST00000465508.1_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	433					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGCTTCTTCTGCAGCACAT	0.632													23	20					0	0	0	0	T	6698379	C	T	6698379	2	4	178	1	0	0	0	0	0	0	0	1	4666	912	32	2		2	DNAJC11	1	6698379	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08		6698379	242552242	1	30985											
PIK3CD	5293	broad.mit.edu	37	chr1	9777022	9777022	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaccccgtctcagtacatCtgcagctgcctgcacagtgg	7	9	10	15	1	2	0	1	0	2	0	3	0	2	0	3	1	6	5	3	1	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:9777022C>G	ENST00000377346.4	+	7	981	c.786C>G	c.(784-786)atC>atG	p.I262M	PIK3CD_ENST00000361110.2_Intron|PIK3CD_ENST00000536656.1_Intron	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	262					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CTCAGTACATCTGCAGCTGCC	0.662													25	18					0	0	0	0	G	9777022	C	G	9777022	3	3	178	1	0	0	0	0	1	0	0	0	11987	903	32	2	804	2	PIK3CD	1	9777022	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	3078643	9777022	239473599	2	30986											
CASZ1	54897	broad.mit.edu	37	chr1	10707968	10707968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgacgctgggatctgaggCatctggggtatggtggaagc	8	9	17	7	1	2	2	0	2	2	0	2	4	2	4	0	6	1	3	0	6	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:10707968C>T	ENST00000377022.3	-	16	3704	c.3387G>A	c.(3385-3387)atG>atA	p.M1129I	CASZ1_ENST00000344008.5_Missense_Mutation_p.M1129I|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1129	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGATCTGAGGCATCTGGGGTA	0.667													32	15					0	0	0	0	T	10707968	C	T	10707968	3	4	178	1	0	0	0	0	1	0	0	0	2710	710	25	4	1920	4	CASZ1	1	10707968	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	930946	10707968	238542653	3	30987											
ALPL	249	broad.mit.edu	37	chr1	21903031	21903031	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggtctggcccccatgctGagtgacacagacaagaagcc	11	5	12	13	0	1	4	0	2	1	2	1	4	1	4	3	2	2	2	3	2	2	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:21903031G>A	ENST00000374840.3	+	11	1456	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	ALPL_ENST00000374832.1_Silent_p.L402L|ALPL_ENST00000374829.1_Silent_p.L48L|ALPL_ENST00000374830.1_Silent_p.L48L|ALPL_ENST00000540617.1_Silent_p.L347L|ALPL_ENST00000539907.1_Silent_p.L325L|ALPL_ENST00000425315.2_Silent_p.L402L	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	402					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CCCCCATGCTGAGTGACACAG	0.607													49	65					0	0	0	0	A	21903031	G	A	21903031	2	1	178	1	0	0	0	0	0	0	0	1	547	1277	45	2		2	ALPL	1	21903031	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	11195063	21903031	227347590	4	30988											
LDLRAD2	401944	broad.mit.edu	37	chr1	22148095	22148095	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccacgagacaagacgcaGctttggaaggttacaccttg	12	7	10	12	2	0	2	0	0	0	2	0	4	0	3	3	2	2	3	3	2	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:22148095G>C	ENST00000344642.2	+	4	983	c.796G>C	c.(796-798)Gct>Cct	p.A266P	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.A266P|LDLRAD2_ENST00000484271.1_3'UTR	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	266						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		ACAAGACGCAGCTTTGGAAGG	0.602													39	64					0	0	0	0	C	22148095	G	C	22148095	3	2	178	1	0	0	0	0	1	0	0	0	8759	971	34	4	810	4	LDLRAD2	1	22148095	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	245064	22148095	227102526	5	30989											
WASF2	10163	broad.mit.edu	37	chr1	27755376	27755376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggcacaggtgccttggctCgatgttcctcgttactaacg	7	11	11	12	4	0	0	0	0	0	0	3	1	1	0	2	3	3	4	2	3	2	4	rs151177492		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:27755376C>T	ENST00000430629.2	-	2	240	c.25G>A	c.(25-27)Gag>Aag	p.E9K	WASF2_ENST00000536657.1_Missense_Mutation_p.E9K	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	9					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGCCTTGGCTCGATGTTCCTC	0.488													30	26					0	0	0	0	T	27755376	C	T	27755376	3	4	178	1	0	0	0	0	1	0	0	0	17349	893	31	1	1503	1	WASF2	1	27755376	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	5607281	27755376	221495245	6	30990											
KIAA0319L	79932	broad.mit.edu	37	chr1	35921704	35921704	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtgctctggttcccaaaGagggtgatggagttttgggg	7	12	16	6	0	2	2	1	1	1	1	3	3	3	3	1	5	1	3	1	5	1	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:35921704G>A	ENST00000325722.3	-	10	1800	c.1566C>T	c.(1564-1566)ctC>ctT	p.L522L	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	522	PKD 3.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTTCCCAAAGAGGGTGATGG	0.547													117	172					0	0	0	0	A	35921704	G	A	35921704	2	1	178	1	0	0	0	0	0	0	0	1	8220	929	33	2		2	KIAA0319L	1	35921704	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	8166328	35921704	213328917	7	30991											
MACF1	23499	broad.mit.edu	37	chr1	39852945	39852945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttgaggacctggttggatGataaacaaagccagcaagca	15	7	12	7	0	0	2	0	2	0	0	0	4	0	4	2	3	4	4	2	3	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:39852945G>A	ENST00000564288.1	+	58	15208	c.14431G>A	c.(14431-14433)Gat>Aat	p.D4811N	MACF1_ENST00000317713.7_Missense_Mutation_p.D2749N|MACF1_ENST00000372915.3_Missense_Mutation_p.D4816N|MACF1_ENST00000539005.1_Missense_Mutation_p.D2728N|MACF1_ENST00000545844.1_Missense_Mutation_p.D2749N|MACF1_ENST00000567887.1_Missense_Mutation_p.D4848N|MACF1_ENST00000361689.2_Missense_Mutation_p.D2749N|MACF1_ENST00000289893.4_Missense_Mutation_p.D3251N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4816					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGTTGGATGATAAACAAAG	0.448													106	161					0	0	0	0	A	39852945	G	A	39852945	3	1	178	1	0	0	0	0	1	0	0	0	9209	1290	45	2	14606	2	MACF1	1	39852945	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3931241	39852945	209397676	8	30992											
MACF1	23499	broad.mit.edu	37	chr1	39907972	39907972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctctgggagaacctgggtGagaaaattgcccaccgacag	12	6	12	11	1	1	2	0	1	1	2	1	5	1	2	4	2	2	0	4	2	3	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:39907972G>A	ENST00000564288.1	+	76	19705	c.18928G>A	c.(18928-18930)Gag>Aag	p.E6310K	MACF1_ENST00000317713.7_Missense_Mutation_p.E4251K|MACF1_ENST00000372915.3_Missense_Mutation_p.E6209K|MACF1_ENST00000539005.1_Missense_Mutation_p.E4121K|MACF1_ENST00000545844.1_Missense_Mutation_p.E4251K|MACF1_ENST00000567887.1_Missense_Mutation_p.E6347K|MACF1_ENST00000361689.2_Missense_Mutation_p.E4251K|MACF1_ENST00000289893.4_Missense_Mutation_p.E4753K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6318					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACCTGGGTGAGAAAATTGC	0.448													17	36					0	0	0	0	A	39907972	G	A	39907972	3	1	178	1	0	0	0	0	1	0	0	0	9209	1291	45	2	19188	2	MACF1	1	39907972	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	55027	39907972	209342649	9	30993											
HIVEP3	59269	broad.mit.edu	37	chr1	41976891	41976904	+	Frame_Shift_Del	DEL	TGAGCAGGGCCGGG	TGAGCAGGGCCGGG	-																															agggtcgggaggagagaggaTgagcagggccgggtgagcag																								rs147310017		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:41976891_41976904delTGAGCAGGGCCGGG	ENST00000372584.1	-	8	7450_7463	c.6436_6449delCCCGGCCCTGCTCA	c.(6436-6450)tfs	p.PGPAH2146fs	HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.PGPAH2146fs|HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.PGPAH2147fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.PGPAH2147fs|HIVEP3_ENST00000460604.1_5'UTR	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2147	6 X 4 AA tandem repeats of S-P-X-[RK].				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)				GGAGAGAGGATGAGCAGGGCCGGGTGAGCAGGAG	0.617													13	46	---	---	---	---					-	41976904	TGAGCAGGGCCGGG	-	41976891	7	5	178	1	0	1	0	1	0	0	0	0	7238	1464	51	0	772	0	HIVEP3	1	41976891	Frame_Shift_Del	DEL	TGAGCAGGGCCGGG	TCGA-CR-6472-01A-11D-1870-08	2068919	41976891	207273730	10	30994											
NRD1	4898	broad.mit.edu	37	chr1	52256649	52256649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaactcttctatcttcttatCaacaacttcagaactgaaac	15	13	2	11	0	6	2	2	1	4	1	6	2	6	2	0	0	5	0	0	0	7	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:52256649C>T	ENST00000354831.7	-	30	3367	c.3178G>A	c.(3178-3180)Gat>Aat	p.D1060N	NRD1_ENST00000539524.1_Missense_Mutation_p.D928N|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.D992N	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	991					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATCTTCTTATCAACAACTTCA	0.398													18	23					0	0	0	0	T	52256649	C	T	52256649	3	4	178	1	0	0	0	0	1	0	0	0	10716	826	29	2	497	2	NRD1	1	52256649	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	10279758	52256649	196993972	11	30995											
MAGOH	4116	broad.mit.edu	37	chr1	53692756	53692756	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgtaatccaataagactGaagaccaaacacttcaggtc	17	8	7	9	0	1	3	1	1	0	2	3	3	2	3	2	1	1	1	2	1	6	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:53692756G>A	ENST00000371470.3	-	5	563	c.402C>T	c.(400-402)ttC>ttT	p.F134F	MAGOH_ENST00000371466.4_Silent_p.F97F	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	134					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						CAATAAGACTGAAGACCAAAC	0.373													6	14					0	0	0	0	A	53692756	G	A	53692756	2	1	178	1	0	0	0	0	0	0	0	1	9263	1281	45	2		2	MAGOH	1	53692756	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1436107	53692756	195557865	12	30996											
C1orf87	127795	broad.mit.edu	37	chr1	60538268	60538268	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaatgattttcaccatgatCtcaggcattgcatctgatcc	10	13	6	12	0	3	3	2	3	2	0	5	3	4	3	3	1	1	2	3	1	1	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:60538268C>G	ENST00000371201.3	-	2	155	c.48G>C	c.(46-48)gaG>gaC	p.E16D	C1orf87_ENST00000450089.2_Missense_Mutation_p.E16D	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	16							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCACCATGATCTCAGGCATTG	0.393													31	66					0	0	0	0	G	60538268	C	G	60538268	3	3	178	1	0	0	0	0	1	0	0	0	2084	912	32	2	1636	2	C1orf87	1	60538268	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	6845512	60538268	188712353	13	30997											
LEPR	3953	broad.mit.edu	37	chr1	66058502	66058502	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaatcacatctggtggAgtaattttccagtcacctct	11	14	7	9	0	4	1	2	1	2	0	5	2	5	2	2	2	0	1	2	2	3	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:66058502A>C	ENST00000349533.6	+	6	842	c.657A>C	c.(655-657)ggA>ggC	p.G219G	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Silent_p.G219G|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Silent_p.G219G|LEPR_ENST00000371058.1_Silent_p.G219G|LEPR_ENST00000371059.3_Silent_p.G219G	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	219					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CATCTGGTGGAGTAATTTTCC	0.378													13	31					0	0	0	0	C	66058502	A	C	66058502	2	2	178	1	0	0	0	0	0	0	0	1	8781	291	11	5		5	LEPR	1	66058502	Silent	SNP	A	TCGA-CR-6472-01A-11D-1870-08	5520234	66058502	183192119	14	30998											
USP33	23032	broad.mit.edu	37	chr1	78204976	78204976	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgttttcttgtatttggtGaggttgtcttacatgaggca	7	18	11	5	0	2	2	0	2	2	0	2	2	2	2	0	3	1	4	0	3	2	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:78204976G>C	ENST00000370793.1	-	6	764	c.418C>G	c.(418-420)Cac>Gac	p.H140D	USP33_ENST00000357428.1_Missense_Mutation_p.H140D|USP33_ENST00000370794.3_Missense_Mutation_p.H109D|USP33_ENST00000370792.3_Missense_Mutation_p.H140D	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	140					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TGTATTTGGTGAGGTTGTCTT	0.373													45	91					0	0	0	0	C	78204976	G	C	78204976	3	2	178	1	0	0	0	0	1	0	0	0	17160	1290	45	2	2502	2	USP33	1	78204976	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	12146474	78204976	171045645	15	30999											
COL24A1	255631	broad.mit.edu	37	chr1	86252129	86252129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcaagacctgttcttcctgGgccgcctctgatgccctaaa	8	10	9	14	1	2	2	0	1	2	1	3	2	3	2	5	1	2	2	5	1	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:86252129G>T	ENST00000370571.2	-	48	4333	c.3967C>A	c.(3967-3969)Cca>Aca	p.P1323T	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1323T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1323	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTTCTTCCTGGGCCGCCTCTG	0.463													47	67					6.08268e-21	6.57389e-21	1	0	T	86252129	G	T	86252129	3	4	178	1	0	0	0	0	1	0	0	0	3713	1232	43	4	1229	4	COL24A1	1	86252129	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	8047153	86252129	162998492	16	31000											
GBP2	2634	broad.mit.edu	37	chr1	89579735	89579735	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacatttggtccacatccttGaaagagttcttcatgaagac	13	12	7	9	0	2	4	1	2	1	2	4	4	4	4	2	1	1	1	2	1	3	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:89579735G>C	ENST00000370466.3	-	7	1381	c.1113C>G	c.(1111-1113)ttC>ttG	p.F371L	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	371					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)		CCACATCCTTGAAAGAGTTCT	0.488													54	79					0	0	0	0	C	89579735	G	C	89579735	3	2	178	1	0	0	0	0	1	0	0	0	6323	1281	45	2	682	2	GBP2	1	89579735	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3327606	89579735	159670886	17	31001											
LRRC8C	84230	broad.mit.edu	37	chr1	90179681	90179681	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgggctccgaaatctggaaGagctgtacctagttggctct	9	11	12	9	1	2	1	0	0	2	1	3	3	3	2	2	3	2	5	2	3	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:90179681G>C	ENST00000370454.4	+	3	1807	c.1552G>C	c.(1552-1554)Gag>Cag	p.E518Q	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	518						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAATCTGGAAGAGCTGTACCT	0.468													22	37					0	0	0	0	C	90179681	G	C	90179681	3	2	178	1	0	0	0	0	1	0	0	0	9087	943	33	2	1558	2	LRRC8C	1	90179681	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	599946	90179681	159070940	18	31002											
CCDC18	343099	broad.mit.edu	37	chr1	93649049	93649049	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagtttaggggaagagttatCcaggtaagtaagtaaaatca	16	10	12	3	0	1	1	1	0	0	1	2	3	2	2	1	3	0	5	1	3	7	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:93649049C>G	ENST00000343253.7	+	2	633	c.131C>G	c.(130-132)tCc>tGc	p.S44C	CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.S44C|CCDC18_ENST00000557479.1_Missense_Mutation_p.S162C			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	44										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GAAGAGTTATCCAGGTAAGTA	0.343													23	28					0	0	0	0	G	93649049	C	G	93649049	3	3	178	1	0	0	0	0	1	0	0	0	2820	855	30	2	491	2	CCDC18	1	93649049	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	3469368	93649049	155601572	19	31003											
S1PR1	1901	broad.mit.edu	37	chr1	101704696	101704696	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaactgacctcggtggtgttCattctcatctgctgctttat	7	16	8	10	1	3	1	2	1	2	0	5	1	3	1	1	2	3	3	1	2	2	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:101704696C>T	ENST00000305352.6	+	2	531	c.156C>T	c.(154-156)ttC>ttT	p.F52F	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	52					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.F52L(1)|p.F52>?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CGGTGGTGTTCATTCTCATCT	0.438											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	85					0	0	0	0	T	101704696	C	T	101704696	2	4	178	1	0	0	0	0	0	0	0	1	13878	825	29	2		2	S1PR1	1	101704696	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	8055647	101704696	147545925	20	31004											
CELSR2	1952	broad.mit.edu	37	chr1	109811620	109811621	+	Frame_Shift_Del	DEL	TG	TG	-																															acagtcattctgcctgagtcTgtcttcagaggtcagtggtg																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:109811620_109811621delTG	ENST00000271332.3	+	19	6682_6683	c.6621_6622delTG	c.(6619-6624)tctcfs	p.SV2207fs		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2207					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGCCTGAGTCTGTCTTCAGAGG	0.599													17	32	---	---	---	---					-	109811621	TG	-	109811620	7	5	178	1	0	1	0	1	0	0	0	0	3251	1567	55	0	6695	0	CELSR2	1	109811620	Frame_Shift_Del	DEL	TG	TCGA-CR-6472-01A-11D-1870-08	8106924	109811620	139439001	21	31005											
EPS8L3	79574	broad.mit.edu	37	chr1	110294644	110294644	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctctccctggaccacagtCagttcccgtgggttcctagc	5	12	9	15	1	2	0	1	0	1	0	6	1	5	1	4	2	1	2	4	2	1	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:110294644C>T	ENST00000369805.3	-	15	1639	c.1410G>A	c.(1408-1410)ctG>ctA	p.L470L	EPS8L3_ENST00000361852.4_Silent_p.L439L|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Silent_p.L469L	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	469	SH3.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGACCACAGTCAGTTCCCGTG	0.592													42	93					0	0	0	0	T	110294644	C	T	110294644	2	4	178	1	0	0	0	0	0	0	0	1	5235	813	29	2		2	EPS8L3	1	110294644	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	483024	110294644	138955977	22	31006											
KCNA2	3737	broad.mit.edu	37	chr1	111146834	111146834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatgcatgtcttcattctCatcccggaagatgggcaatg	10	11	9	11	1	3	1	2	0	2	1	5	2	4	2	2	2	1	2	2	2	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:111146834C>T	ENST00000485317.1	-	3	1244	c.571G>A	c.(571-573)Gag>Aag	p.E191K	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.E191K|KCNA2_ENST00000369770.3_Missense_Mutation_p.E191K|KCNA2_ENST00000316361.4_Missense_Mutation_p.E191K			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	191						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TCTTCATTCTCATCCCGGAAG	0.493													31	54					0	0	0	0	T	111146834	C	T	111146834	3	4	178	1	0	0	0	0	1	0	0	0	8056	835	29	2	932	2	KCNA2	1	111146834	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	852190	111146834	138103787	23	31007											
DDX20	11218	broad.mit.edu	37	chr1	112309284	112309284	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcggtcttccttcagattGcagactgaagcccaggaaga	11	8	12	10	1	2	4	1	1	1	3	3	5	3	5	2	3	2	1	2	3	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:112309284G>A	ENST00000475700.1	+	3	3420	c.1062G>A	c.(1060-1062)ttG>ttA	p.L354L	DDX20_ENST00000369702.4_Silent_p.L746L			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	746	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTTCAGATTGCAGACTGAAG	0.473													21	46					0	0	0	0	A	112309284	G	A	112309284	2	1	178	1	0	0	0	0	0	0	0	1	4380	1310	46	4		4	DDX20	1	112309284	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1162450	112309284	136941337	24	31008											
MAGI3	260425	broad.mit.edu	37	chr1	114226508	114226508	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcagctgacaaaaacaaaGagactggaaggttcaaaccg	18	4	11	8	1	1	2	1	1	0	1	1	4	1	3	1	3	3	3	1	3	5	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:114226508G>C	ENST00000307546.9	+	21	4393	c.4318G>C	c.(4318-4320)Gag>Cag	p.E1440Q	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1465					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAAACAAAGAGACTGGAAG	0.433													4	14					0	0	0	0	C	114226508	G	C	114226508	3	2	178	1	0	0	0	0	1	0	0	0	9261	943	33	2	4454	2	MAGI3	1	114226508	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1917224	114226508	135024113	25	31009											
PEX11B	8799	broad.mit.edu	37	chr1	145522727	145522727	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcggctgcaagtcctgctCctggctcgagtccttagagg	5	11	12	13	2	0	1	0	0	0	1	5	2	3	1	3	3	2	4	3	3	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:145522727C>A	ENST00000369306.3	+	4	737	c.588C>A	c.(586-588)ctC>ctA	p.L196L	PEX11B_ENST00000537888.1_Silent_p.L182L	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	196					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGTCCTGCTCCTGGCTCGAG	0.577													34	192					2.26627e-22	2.46198e-22	1	0	A	145522727	C	A	145522727	2	1	178	1	0	0	0	0	0	0	0	1	11810	842	30	2		2	PEX11B	1	145522727	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	31296219	145522727	103727894	26	31010											
GJA8	2703	broad.mit.edu	37	chr1	147381142	147381142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagaagaaggaggaagcaGagaggctgaccacggaggag	16	1	19	5	1	0	4	0	1	0	3	0	11	0	8	1	5	1	2	1	5	3	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:147381142G>A	ENST00000240986.4	+	2	1113	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	GJA8_ENST00000369235.1_Missense_Mutation_p.E354K	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	354					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGAGGAAGCAGAGAGGCTGAC	0.632													5	20					0	0	0	0	A	147381142	G	A	147381142	3	1	178	1	0	0	0	0	1	0	0	0	6456	943	33	2	1062	2	GJA8	1	147381142	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1858415	147381142	101869479	27	31011											
FCGR1A	2209	broad.mit.edu	37	chr1	149762936	149762936	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggatttagaaatctctttgGattctggtcatgagaagaag	12	13	12	4	0	3	3	1	1	2	3	4	6	3	5	0	3	0	0	0	3	4	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:149762936G>C	ENST00000369168.4	+	6	1042	c.988G>C	c.(988-990)Gat>Cat	p.D330H	RP11-196G18.3_ENST00000428289.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	330	Interaction with EPB41L2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AATCTCTTTGGATTCTGGTCA	0.383													28	142					0	0	0	0	C	149762936	G	C	149762936	3	2	178	1	0	0	0	0	1	0	0	0	5824	1174	41	2	1010	2	FCGR1A	1	149762936	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2381794	149762936	99487685	28	31012											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858839	149858839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaagtcaccatcgcccaGggcggcgttttgcctaacat	9	8	11	13	3	1	0	1	0	0	0	2	0	1	0	3	3	2	2	3	3	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:149858839G>T	ENST00000331380.2	+	1	315	c.315G>T	c.(313-315)caG>caT	p.Q105H		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	105					nucleosome assembly	nucleosome|nucleus	DNA binding	p.Q105H(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCATCGCCCAGGGCGGCGTTT	0.522													41	163					1.68508e-10	1.76359e-10	1	0	T	149858839	G	T	149858839	3	4	178	1	0	0	0	0	1	0	0	0	7228	991	35	4	317	4	HIST2H2AC	1	149858839	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	95903	149858839	99391782	29	31013											
SV2A	9900	broad.mit.edu	37	chr1	149878401	149878401	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgttcacaaacttgtactcGaacaggtctgtgggcaaagg	11	10	11	9	1	2	0	1	0	1	0	3	1	2	0	0	3	3	3	0	3	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:149878401G>C	ENST00000369146.3	-	11	2176	c.1686C>G	c.(1684-1686)ttC>ttG	p.F562L	SV2A_ENST00000369145.1_Missense_Mutation_p.F562L	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	562					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACTTGTACTCGAACAGGTCTG	0.537													16	46					0	0	0	0	C	149878401	G	C	149878401	3	2	178	1	0	0	0	0	1	0	0	0	15507	1049	37	3	554	3	SV2A	1	149878401	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	19562	149878401	99372220	30	31014											
SNX27	81609	broad.mit.edu	37	chr1	151630748	151630748	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagggaggcagctgtgttCtaagcggtaccgggagtttg	7	9	18	7	2	1	0	0	0	1	0	1	2	1	2	1	5	3	6	1	5	2	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:151630748C>G	ENST00000368843.3	+	3	701	c.581C>G	c.(580-582)tCt>tGt	p.S194C	SNX27_ENST00000458013.2_Missense_Mutation_p.S194C|SNX27_ENST00000368838.1_Missense_Mutation_p.S101C	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	194	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCTGTGTTCTAAGCGGTAC	0.408													61	252					0	0	0	0	G	151630748	C	G	151630748	3	3	178	1	0	0	0	0	1	0	0	0	14985	913	32	2	591	2	SNX27	1	151630748	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1752347	151630748	97619873	31	31015											
FLG	2312	broad.mit.edu	37	chr1	152282183	152282183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactgtgtgtctgactcttCtgagtgtccctcgctgtcac	4	15	10	12	1	4	3	1	3	3	0	6	3	5	3	1	0	0	1	1	0	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:152282183C>T	ENST00000368799.1	-	3	5214	c.5179G>A	c.(5179-5181)Gaa>Aaa	p.E1727K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1727	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGACTCTTCTGAGTGTCCC	0.597									Ichthyosis				151	465					0	0	0	0	T	152282183	C	T	152282183	3	4	178	1	0	0	0	0	1	0	0	0	5967	922	32	2	7010	2	FLG	1	152282183	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	651435	152282183	96968438	32	31016											
LCE2C	353140	broad.mit.edu	37	chr1	152648745	152648745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctcttccaccggcgccGgcaccagagccccgactgct	5	6	10	20	5	1	1	0	0	1	1	3	2	2	1	7	2	2	2	7	2	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:152648745G>T	ENST00000368783.1	+	2	309	c.254G>T	c.(253-255)cGg>cTg	p.R85L	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	85	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCGGCGCCGGCACCAGAGC	0.677													5	112					0.00116845	0.0011835	1	0	T	152648745	G	T	152648745	3	4	178	1	0	0	0	0	1	0	0	0	8720	1116	39	3	256	3	LCE2C	1	152648745	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	366562	152648745	96601876	33	31017											
CRTC2	200186	broad.mit.edu	37	chr1	153925047	153925047	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccggtggcctcctcctacCttcttagcatcccatggctt	5	12	7	17	1	1	0	0	0	1	0	4	0	4	0	6	3	2	2	6	3	2	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:153925047C>G	ENST00000368633.1	-	8	829	c.702_splice	c.e8+1	p.K234_splice	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	234					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCCTCCTACCTTCTTAGCAT	0.522													9	521					0	0	0	0	G	153925047	C	G	153925047	5	3	178	1	0	0	0	0	0	0	1	0	3930	695	24	4	1407	4	CRTC2	1	153925047	Splice_Site	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1276302	153925047	95325574	34	31018											
SSR2	6746	broad.mit.edu	37	chr1	155984754	155984754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtttgggcaactcaccaCaacgggcccatcctcctggg	8	7	12	14	1	1	0	1	0	0	0	3	0	3	0	4	4	2	2	4	4	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:155984754C>A	ENST00000295702.4	-	4	432	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L	SSR2_ENST00000480567.1_Missense_Mutation_p.V121L|SSR2_ENST00000529008.1_Intron|SSR2_ENST00000496742.1_Intron	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	121					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAACTCACCACAACGGGCCCA	0.517													8	39					1.06961e-07	1.10293e-07	1	0	A	155984754	C	A	155984754	3	1	178	1	0	0	0	0	1	0	0	0	15281	478	17	4	202	4	SSR2	1	155984754	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	2059707	155984754	93265867	35	31019											
COPA	1314	broad.mit.edu	37	chr1	160309718	160309718	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccttaatcttatagtcatctCctccagagacgaacagtggc	11	11	7	12	1	3	1	1	0	2	1	5	3	4	1	3	1	1	0	3	1	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:160309718C>G	ENST00000241704.7	-	3	438	c.209G>C	c.(208-210)gGa>gCa	p.G70A	COPA_ENST00000368069.3_Missense_Mutation_p.G70A	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	70					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATAGTCATCTCCTCCAGAGAC	0.458													63	219					0	0	0	0	G	160309718	C	G	160309718	3	3	178	1	0	0	0	0	1	0	0	0	3757	855	30	2	3616	2	COPA	1	160309718	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	4324964	160309718	88940903	36	31020											
NDUFS2	4720	broad.mit.edu	37	chr1	161172237	161172237	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcccaggtgctgcggcctgGggctggagtccgattgccga	4	7	18	12	3	0	0	0	0	0	0	1	3	1	1	4	6	3	2	4	6	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:161172237G>C	ENST00000392179.4	+	1	301	c.62G>C	c.(61-63)gGg>gCg	p.G21A	NDUFS2_ENST00000476409.2_5'UTR|NDUFS2_ENST00000367993.3_Missense_Mutation_p.G21A	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	21					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	CTGCGGCCTGGGGCTGGAGTC	0.652													3	31					0	0	0	0	C	161172237	G	C	161172237	3	2	178	1	0	0	0	0	1	0	0	0	10362	1232	43	4	64	4	NDUFS2	1	161172237	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	862519	161172237	88078384	37	31021											
DDR2	4921	broad.mit.edu	37	chr1	162745470	162745470	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaaggagataaagatcAtgtctcggctcaaggaccca	13	10	9	9	1	4	2	2	0	2	2	5	4	4	3	1	3	0	1	1	3	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:162745470A>G	ENST00000367922.2	+	16	2323	c.1885A>G	c.(1885-1887)Atg>Gtg	p.M629V	DDR2_ENST00000367921.3_Missense_Mutation_p.M629V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	629	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GATAAAGATCATGTCTCGGCT	0.413													12	173					0	0	0	0	G	162745470	A	G	162745470	3	3	178	1	0	0	0	0	1	0	0	0	4369	217	8	5	1935	5	DDR2	1	162745470	Missense_Mutation	SNP	A	TCGA-CR-6472-01A-11D-1870-08	1573233	162745470	86505151	38	31022											
DCAF6	55827	broad.mit.edu	37	chr1	168014240	168014240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttccagaagaatctgcttCatctgaaaaagccaaggaac	15	8	9	9	0	3	3	1	1	2	2	4	4	4	4	2	2	3	2	2	2	6	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:168014240C>T	ENST00000367840.3	+	16	2127	c.2033C>T	c.(2032-2034)tCa>tTa	p.S678L	DCAF6_ENST00000432587.2_Missense_Mutation_p.S647L|DCAF6_ENST00000312263.6_Missense_Mutation_p.S601L|DCAF6_ENST00000367843.3_Missense_Mutation_p.S621L	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	603	IQ.				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAATCTGCTTCATCTGAAAAA	0.433													43	161					0	0	0	0	T	168014240	C	T	168014240	3	4	178	1	0	0	0	0	1	0	0	0	4307	838	29	2	1920	2	DCAF6	1	168014240	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	5268770	168014240	81236381	39	31023											
RABGAP1L	9910	broad.mit.edu	37	chr1	174363181	174363181	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctgtctactctggtgaaGagtggtgtccctgaagcatt	7	12	14	8	0	2	3	0	2	2	1	3	3	3	3	1	3	2	2	1	3	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:174363181G>C	ENST00000251507.4	+	13	1782	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N	RABGAP1L_ENST00000367689.3_Missense_Mutation_p.K183N|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.K499N	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	536					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CTCTGGTGAAGAGTGGTGTCC	0.473													45	123					0	0	0	0	C	174363181	G	C	174363181	3	2	178	1	0	0	0	0	1	0	0	0	13047	933	33	2	1654	2	RABGAP1L	1	174363181	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	6348941	174363181	74887440	40	31024											
TNR	7143	broad.mit.edu	37	chr1	175360470	175360470	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctgcgggcctgttctttCagagccaccacattgacaat	8	10	11	12	1	2	2	1	1	1	1	2	2	2	2	3	2	2	2	3	2	1	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:175360470C>G	ENST00000367674.1	-	7	2169	c.1461G>C	c.(1459-1461)ctG>ctC	p.L487L	TNR_ENST00000263525.2_Silent_p.L487L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	487	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTGTTCTTTCAGAGCCACCA	0.557													31	67					0	0	0	0	G	175360470	C	G	175360470	2	3	178	1	0	0	0	0	0	0	0	1	16432	813	29	2		2	TNR	1	175360470	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	997289	175360470	73890151	41	31025											
ASTN1	460	broad.mit.edu	37	chr1	176983947	176983947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggtttgtcccccattcGttccgaatgcaaaggtgctt	6	13	9	13	2	0	0	0	0	0	0	3	1	2	0	4	2	2	4	4	2	2	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:176983947G>A	ENST00000367654.2	-	8	1540	c.1527C>T	c.(1525-1527)aaC>aaT	p.N509N	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.N501N|ASTN1_ENST00000367657.3_Silent_p.N501N|ASTN1_ENST00000361833.2_Silent_p.N501N			O14525	ASTN1_HUMAN	astrotactin 1	509					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						TCCCCCATTCGTTCCGAATGC	0.493													179	419					0	0	0	0	A	176983947	G	A	176983947	2	1	178	1	0	0	0	0	0	0	0	1	1068	1136	40	1		1	ASTN1	1	176983947	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1623477	176983947	72266674	42	31026											
RASAL2	9462	broad.mit.edu	37	chr1	178389654	178389654	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttccttctagggattcttCagcaagcgcctgaaaggctc	8	12	9	12	1	3	1	1	1	2	0	5	2	4	2	2	2	2	2	2	2	3	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:178389654C>G	ENST00000448150.3	+	5	1337	c.519C>G	c.(517-519)ttC>ttG	p.F173L	RASAL2_ENST00000462775.1_Missense_Mutation_p.F43L|RASAL2_ENST00000367649.3_Missense_Mutation_p.F191L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	43	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGGGATTCTTCAGCAAGCGCC	0.468													12	51					0	0	0	0	G	178389654	C	G	178389654	3	3	178	1	0	0	0	0	1	0	0	0	13146	825	29	2	608	2	RASAL2	1	178389654	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1405707	178389654	70860967	43	31027											
CEP350	9857	broad.mit.edu	37	chr1	179972362	179972362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgatgggaaagtgtggcagGaggctgagtttcaaaacatg	12	9	15	5	0	1	2	1	2	0	0	1	4	1	4	0	4	1	3	0	4	3	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:179972362G>C	ENST00000367607.3	+	7	1490	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	358						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGTGTGGCAGGAGGCTGAGTT	0.378													14	45					0	0	0	0	C	179972362	G	C	179972362	3	2	178	1	0	0	0	0	1	0	0	0	3283	1175	41	2	1094	2	CEP350	1	179972362	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1582708	179972362	69278259	44	31028											
LHX4	89884	broad.mit.edu	37	chr1	180199673	180199673	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcgctccgagatgatgcaGagtgcgactgtccccgcgga	7	9	13	12	5	0	3	0	1	0	2	3	6	2	4	3	1	2	2	3	1	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:180199673G>A	ENST00000263726.2	+	1	253	c.9G>A	c.(7-9)caG>caA	p.Q3Q		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	3						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						AGATGATGCAGAGTGCGACTG	0.522													13	46					0	0	0	0	A	180199673	G	A	180199673	2	1	178	1	0	0	0	0	0	0	0	1	8827	933	33	2		2	LHX4	1	180199673	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	227311	180199673	69050948	45	31029											
XPR1	9213	broad.mit.edu	37	chr1	180843068	180843068	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctactgtctttgccccacttGaggttttccggtaagcaaac	8	13	8	12	1	1	1	0	1	1	0	2	1	2	1	3	2	4	3	3	2	3	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:180843068G>C	ENST00000367590.4	+	13	1996	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q	XPR1_ENST00000367589.3_Missense_Mutation_p.E535Q	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	600	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGCCCCACTTGAGGTTTTCCG	0.363													22	40					0	0	0	0	C	180843068	G	C	180843068	3	2	178	1	0	0	0	0	1	0	0	0	17547	1291	45	2	1848	2	XPR1	1	180843068	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	643395	180843068	68407553	46	31030											
CACNA1E	777	broad.mit.edu	37	chr1	181689972	181689972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttgataccttccctgcagCcatcatgactgtgttccagg	7	14	8	12	0	1	2	1	2	0	0	3	2	3	2	4	1	3	2	4	1	1	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:181689972C>G	ENST00000526775.1	+	15	2102	c.1937C>G	c.(1936-1938)gCc>gGc	p.A646G	CACNA1E_ENST00000367567.4_Missense_Mutation_p.A253G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A597G|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A597G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A646G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A646G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A646G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	646					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTCCCTGCAGCCATCATGACT	0.433													6	32					0	0	0	0	G	181689972	C	G	181689972	3	3	178	1	0	0	0	0	1	0	0	0	2567	739	26	4	1995	4	CACNA1E	1	181689972	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	846904	181689972	67560649	47	31031											
RNASEL	6041	broad.mit.edu	37	chr1	182555377	182555377	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacatctgcccccatctcatCaaggagaatcttcaagacct	12	10	5	14	0	5	2	3	0	3	2	6	3	5	2	3	1	2	0	3	1	4	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:182555377C>G	ENST00000367559.3	-	2	818	c.565G>C	c.(565-567)Gat>Cat	p.D189H	RNASEL_ENST00000539397.1_Missense_Mutation_p.D189H|RNASEL_ENST00000444138.1_Missense_Mutation_p.D189H	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	189					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CCCATCTCATCAAGGAGAATC	0.502													32	93					0	0	0	0	G	182555377	C	G	182555377	3	3	178	1	0	0	0	0	1	0	0	0	13501	826	29	2	1684	2	RNASEL	1	182555377	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	865405	182555377	66695244	48	31032											
LAMC2	3918	broad.mit.edu	37	chr1	183196670	183196670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagattgttattcaggggatGagaatcctgacattgagtgt	11	13	13	4	0	1	4	1	3	0	2	2	7	2	5	1	2	0	1	1	2	2	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:183196670G>A	ENST00000264144.4	+	10	1371	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	LAMC2_ENST00000493293.1_Missense_Mutation_p.E436K	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	436	Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TTCAGGGGATGAGAATCCTGA	0.522													55	262					0	0	0	0	A	183196670	G	A	183196670	3	1	178	1	0	0	0	0	1	0	0	0	8668	1291	45	2	1344	2	LAMC2	1	183196670	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	641293	183196670	66053951	49	31033											
ASPM	259266	broad.mit.edu	37	chr1	197070880	197070880	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagcatgtttccaagtctGaaatgtaatatatgttctgt	12	16	8	5	0	2	2	0	2	2	0	3	2	3	2	1	0	1	4	1	0	6	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:197070880G>A	ENST00000367409.4	-	18	7757	c.7501C>T	c.(7501-7503)Cag>Tag	p.Q2501*	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2501					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCCAAGTCTGAAATGTAATA	0.348													44	122					0	0	0	0	A	197070880	G	A	197070880	4	1	178	1	0	0	0	0	0	1	0	0	1060	1299	45	2	2976	2	ASPM	1	197070880	Nonsense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	13874210	197070880	52179741	50	31034											
NR5A2	2494	broad.mit.edu	37	chr1	200143123	200143123	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaaaacttccagctggtaGaaggtgtccaggaacaagtc	13	9	11	8	0	0	2	0	1	0	1	3	3	2	3	2	3	3	2	2	3	6	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:200143123G>C	ENST00000367362.3	+	8	1657	c.1411G>C	c.(1411-1413)Gaa>Caa	p.E471Q	NR5A2_ENST00000544748.1_Missense_Mutation_p.E399Q|NR5A2_ENST00000236914.3_Missense_Mutation_p.E425Q	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	471					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCAGCTGGTAGAAGGTGTCCA	0.393													3	15					0	0	0	0	C	200143123	G	C	200143123	3	2	178	1	0	0	0	0	1	0	0	0	10707	943	33	2	1441	2	NR5A2	1	200143123	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3072243	200143123	49107498	51	31035											
LGR6	59352	broad.mit.edu	37	chr1	202288024	202288024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggagaagagctcctgtGattctacccaggccctggta	9	9	12	11	0	1	3	0	1	1	2	2	4	2	3	3	3	3	3	3	3	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:202288024G>A	ENST00000367278.3	+	18	2682	c.2593G>A	c.(2593-2595)Gat>Aat	p.D865N	LGR6_ENST00000255432.7_Missense_Mutation_p.D813N|LGR6_ENST00000439764.2_Missense_Mutation_p.D726N	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	865						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GAGCTCCTGTGATTCTACCCA	0.652													33	97					0	0	0	0	A	202288024	G	A	202288024	3	1	178	1	0	0	0	0	1	0	0	0	8812	1290	45	2	2810	2	LGR6	1	202288024	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2144901	202288024	46962597	52	31036											
MYOG	4656	broad.mit.edu	37	chr1	203054939	203054939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtccccagccccttgtcctCaaggggccctggggcctcgg	3	7	14	17	1	1	0	1	0	0	0	4	0	3	0	7	6	1	0	7	6	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:203054939C>T	ENST00000241651.4	-	1	225	c.151G>A	c.(151-153)Gag>Aag	p.E51K		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	51					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CCCTTGTCCTCAAGGGGCCCT	0.672													40	77					0	0	0	0	T	203054939	C	T	203054939	3	4	178	1	0	0	0	0	1	0	0	0	10160	835	29	2	535	2	MYOG	1	203054939	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	766915	203054939	46195682	53	31037											
FMOD	2331	broad.mit.edu	37	chr1	203316468	203316468	+	Missense_Mutation	SNP	C	C	G																															gttctccaggttggtgttgaCtggggggatcttctgcagct																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:203316468C>G	ENST00000354955.4	-	2	1394	c.931G>C	c.(931-933)Gtc>Ctc	p.V311L	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	311					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TTGGTGTTGACTGGGGGGATC	0.527													41	133					0	0	0	0	G	203316468	C	G	203316468	3	3	178	1	0	0	0	0	1	0	0	0	6004	565	20	4	207	4	FMOD	1	203316468	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	261529	203316468	45934153	54	31038	236	2									
FMOD	2331	broad.mit.edu	37	chr1	203316478	203316478	+	Missense_Mutation	SNP	C	C	G																															ttggtgttgactggggggatCttctgcagctggttgtagga																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:203316478C>G	ENST00000354955.4	-	2	1384	c.921G>C	c.(919-921)aaG>aaC	p.K307N	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	307					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTGGGGGGATCTTCTGCAGCT	0.542													43	132					0	0	0	0	G	203316478	C	G	203316478	3	3	178	1	0	0	0	0	1	0	0	0	6004	912	32	2	217	2	FMOD	1	203316478	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	10	203316478	45934143	55	31039	236	2									
CNTN2	6900	broad.mit.edu	37	chr1	205027723	205027723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaattctccaaggaggagcGagacccagtgaaagctcatg	13	6	13	9	1	2	2	1	1	1	1	3	6	2	5	2	3	2	1	2	3	3	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:205027723G>A	ENST00000331830.4	+	5	703	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	140	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGGAGGAGCGAGACCCAGTG	0.622													28	18					0	0	0	0	A	205027723	G	A	205027723	3	1	178	1	0	0	0	0	1	0	0	0	3671	1058	37	1	433	1	CNTN2	1	205027723	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1711245	205027723	44222898	56	31040											
CDK18	5129	broad.mit.edu	37	chr1	205495256	205495256	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaccttgtggccctgaaaGagatccggctggagcacgag	11	6	14	10	2	0	3	0	1	0	2	1	6	1	4	3	3	2	2	3	3	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:205495256G>C	ENST00000360066.2	+	6	821	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	CDK18_ENST00000429964.2_Missense_Mutation_p.E174Q|CDK18_ENST00000506784.1_Missense_Mutation_p.E204Q|CDK18_ENST00000509056.1_3'UTR	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	172	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GGCCCTGAAAGAGATCCGGCT	0.647													10	28					0	0	0	0	C	205495256	G	C	205495256	3	2	178	1	0	0	0	0	1	0	0	0	3163	943	33	2	628	2	CDK18	1	205495256	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	467533	205495256	43755365	57	31041											
IL10	3586	broad.mit.edu	37	chr1	206942023	206942023	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtaggcttctatgtagttGatgaagatgtcaaactcact	12	14	9	6	0	3	3	2	2	1	1	3	3	3	3	0	1	1	4	0	1	5	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:206942023G>A	ENST00000423557.1	-	5	553	c.495C>T	c.(493-495)atC>atT	p.I165I		NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	165					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CTATGTAGTTGATGAAGATGT	0.408													33	31					0	0	0	0	A	206942023	G	A	206942023	2	1	178	1	0	0	0	0	0	0	0	1	7672	1280	45	2		2	IL10	1	206942023	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1446767	206942023	42308598	58	31042											
CD46	4179	broad.mit.edu	37	chr1	207925591	207925591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccgccgcgagtgtccctttCcttcctggcgctttcctggg	1	12	12	16	4	0	0	0	0	0	0	4	1	4	0	6	2	0	1	6	2	0	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:207925591C>T	ENST00000358170.2	+	1	190	c.34C>T	c.(34-36)Cct>Tct	p.P12S	CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367047.1_Missense_Mutation_p.P12S|CD46_ENST00000361067.1_Missense_Mutation_p.P12S|CD46_ENST00000357714.1_Missense_Mutation_p.P12S|CD46_ENST00000322918.5_Missense_Mutation_p.P12S|CD46_ENST00000367042.1_Missense_Mutation_p.P12S|CD46_ENST00000354848.1_Missense_Mutation_p.P12S|CD46_ENST00000441839.2_Missense_Mutation_p.P12S|CD46_ENST00000367041.1_Missense_Mutation_p.P12S|CD46_ENST00000480003.1_Missense_Mutation_p.P12S|CD46_ENST00000360212.2_Missense_Mutation_p.P12S|CD46_ENST00000322875.4_Missense_Mutation_p.P12S	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	12					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GTGTCCCTTTCCTTCCTGGCG	0.667													106	311					0	0	0	0	T	207925591	C	T	207925591	3	4	178	1	0	0	0	0	1	0	0	0	3047	855	30	2	36	2	CD46	1	207925591	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	983568	207925591	41325030	59	31043											
INTS7	25896	broad.mit.edu	37	chr1	212161241	212161241	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttacctggaactatactGaagtaatgtttgatggcgat	11	14	9	7	1	0	2	0	2	0	0	1	4	1	3	2	2	3	2	2	2	6	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:212161241G>T	ENST00000366994.3	-	8	1088	c.984C>A	c.(982-984)ttC>ttA	p.F328L	INTS7_ENST00000366992.3_Missense_Mutation_p.F328L|INTS7_ENST00000366993.3_Missense_Mutation_p.F328L|INTS7_ENST00000440600.2_Missense_Mutation_p.F279L|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	328					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GAACTATACTGAAGTAATGTT	0.388													18	62					2.35188e-11	2.46967e-11	1	0	T	212161241	G	T	212161241	3	4	178	1	0	0	0	0	1	0	0	0	7836	1281	45	2	1956	2	INTS7	1	212161241	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	4235650	212161241	37089380	60	31044											
NSL1	25936	broad.mit.edu	37	chr1	212964964	212964964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgcacagttgtagcatttCggtcacagcccgcttcgagg	7	9	12	13	4	1	0	1	0	0	0	3	1	1	0	2	2	2	5	2	2	1	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:212964964C>T	ENST00000366977.3	-	1	160	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	NSL1_ENST00000366975.6_Missense_Mutation_p.E48K|NSL1_ENST00000422588.2_Missense_Mutation_p.E48K|NSL1_ENST00000366976.1_Missense_Mutation_p.E48K	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	48					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TGTAGCATTTCGGTCACAGCC	0.652													41	140					0	0	0	0	T	212964964	C	T	212964964	3	4	178	1	0	0	0	0	1	0	0	0	10744	893	31	1	816	1	NSL1	1	212964964	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	803723	212964964	36285657	61	31045											
MARK1	4139	broad.mit.edu	37	chr1	220809219	220809219	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcatataccaaaagacctCaggctaacagtgtggaaagt	16	9	8	8	0	2	1	2	0	0	1	2	2	2	2	2	2	2	1	2	2	7	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:220809219C>G	ENST00000402574.1	+	13	1918	c.916C>G	c.(916-918)Cag>Gag	p.Q306E	MARK1_ENST00000366917.4_Missense_Mutation_p.Q441E|MARK1_ENST00000366918.4_Missense_Mutation_p.Q419E	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	441	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAAAAGACCTCAGGCTAACAG	0.408													30	76					0	0	0	0	G	220809219	C	G	220809219	3	3	178	1	0	0	0	0	1	0	0	0	9381	827	29	2	1371	2	MARK1	1	220809219	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	7844255	220809219	28441402	62	31046											
MIA3	375056	broad.mit.edu	37	chr1	222802603	222802603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agataaggctctctgagggaGaagccaaagaggactccttg	13	7	13	8	0	1	4	0	1	1	3	3	6	2	5	2	3	1	1	2	3	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:222802603G>A	ENST00000344922.5	+	4	2066	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	MIA3_ENST00000344441.6_Missense_Mutation_p.E681K|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	681					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTCTGAGGGAGAAGCCAAAGA	0.498													33	112					0	0	0	0	A	222802603	G	A	222802603	3	1	178	1	0	0	0	0	1	0	0	0	9634	943	33	2	2055	2	MIA3	1	222802603	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1993384	222802603	26448018	63	31047											
SUSD4	55061	broad.mit.edu	37	chr1	223438081	223438081	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaagcagcgataggagatCacagtccccaccgggaagga	14	3	14	10	2	1	1	1	0	0	1	2	6	2	4	3	4	2	1	3	4	3	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:223438081C>T	ENST00000343846.3	-	4	1248	c.615G>A	c.(613-615)gtG>gtA	p.V205V	SUSD4_ENST00000454695.2_Silent_p.V45V|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Silent_p.V205V|SUSD4_ENST00000344029.6_Silent_p.V205V			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	205	Sushi 3.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GATAGGAGATCACAGTCCCCA	0.512													46	117					0	0	0	0	T	223438081	C	T	223438081	2	4	178	1	0	0	0	0	0	0	0	1	15500	813	29	2		2	SUSD4	1	223438081	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	635478	223438081	25812540	64	31048											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649840	232649841	+	Frame_Shift_Del	DEL	TC	TC	-																															cctgtcgccttcccctccagTctcatttctaaagtaaggac																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:232649840_232649841delTC	ENST00000366630.1	-	2	1603_1604	c.1245_1246delGA	c.(1243-1248)gactfs	p.ET415fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Del_p.ET415fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	415					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCCCCTCCAGTCTCATTTCTAA	0.52													73	258	---	---	---	---					-	232649841	TC	-	232649840	7	5	178	1	0	1	0	1	0	0	0	0	14418	1667	58	0	4006	0	SIPA1L2	1	232649840	Frame_Shift_Del	DEL	TC	TCGA-CR-6472-01A-11D-1870-08	9211759	232649840	16600781	65	31049											
TARBP1	6894	broad.mit.edu	37	chr1	234546228	234546228	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtaataatgtctaaatgtGataaaactgctaaaaacgta	19	11	7	4	1	1	1	0	1	1	0	1	2	1	1	0	0	3	3	0	0	10	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:234546228G>C	ENST00000040877.1	-	23	3754	c.3755C>G	c.(3754-3756)tCa>tGa	p.S1252*		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1252					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GTCTAAATGTGATAAAACTGC	0.259													10	92					0	0	0	0	C	234546228	G	C	234546228	4	2	178	1	0	0	0	0	0	1	0	0	15646	1294	45	2	1142	2	TARBP1	1	234546228	Nonsense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1896388	234546228	14704393	66	31050											
ERO1LB	56605	broad.mit.edu	37	chr1	236399689	236399689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatactgagcagctggaGatctctcatctgaacaagaa	14	9	8	10	0	3	4	1	2	2	2	4	5	3	4	0	1	5	2	0	1	5	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:236399689G>T	ENST00000354619.5	-	7	716	c.515C>A	c.(514-516)tCt>tAt	p.S172Y	ERO1LB_ENST00000327333.8_3'UTR	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	172					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AGCAGCTGGAGATCTCTCATC	0.403													61	144					7.91745e-34	8.72167e-34	1	0	T	236399689	G	T	236399689	3	4	178	1	0	0	0	0	1	0	0	0	5278	942	33	2	928	2	ERO1LB	1	236399689	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1853461	236399689	12850932	67	31051											
OR2W5	441932	broad.mit.edu	37	chr1	247655066	247655066	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctcctggtgccgctctcCctcatcctcatctcctatgg	3	13	6	19	1	4	0	2	0	2	0	9	0	7	0	6	2	1	1	6	2	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:247655066C>T	ENST00000522351.1	+	0	697							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGCCGCTCTCCCTCATCCTCA	0.562													9	150					0	0	0	0	T	247655066	C	T	247655066	1	4	178	0	1	0	0	0	0	0	0	0	11105	623	22	4		4	OR2W5	1	247655066	RNA	SNP	C	TCGA-CR-6472-01A-11D-1870-08	11255377	247655066	1595555	68	31052											
OR2G2	81470	broad.mit.edu	37	chr1	247751981	247751981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttggttcacctttacaactCccatgccctgggatccactg	7	13	7	14	0	1	0	1	0	0	0	3	1	3	1	4	2	3	1	4	2	2	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:247751981C>T	ENST00000320065.1	+	1	320	c.320C>T	c.(319-321)tCc>tTc	p.S107F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTTACAACTCCCATGCCCTG	0.537													58	161					0	0	0	0	T	247751981	C	T	247751981	3	4	178	1	0	0	0	0	1	0	0	0	11069	855	30	2	322	2	OR2G2	1	247751981	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	96915	247751981	1498640	69	31053											
GEN1	348654	broad.mit.edu	37	chr2	17946179	17946179	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttcagtgcctccatatgctcGaatgcttaggaatcccctgg	8	12	9	12	1	1	0	1	0	0	0	4	2	3	1	4	2	3	2	4	2	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:17946179G>C	ENST00000381254.2	+	4	578	c.364G>C	c.(364-366)Gaa>Caa	p.E122Q	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.E122Q	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	122	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCATATGCTCGAATGCTTAGG	0.428								Homologous recombination					68	27					0	0	0	0	C	17946179	G	C	17946179	3	2	178	1	0	0	0	0	1	0	0	0	6386	1059	37	3	374	3	GEN1	2	17946179	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08		17946179	225253194	70	31054											
ITSN2	50618	broad.mit.edu	37	chr2	24522802	24522802	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgtctttctatgtcttttctCctttcttcctctcgttgtct	1	23	4	13	2	7	0	0	0	7	0	10	0	8	0	2	0	0	1	2	0	1	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:24522802C>G	ENST00000355123.4	-	12	1763	c.1320G>C	c.(1318-1320)agG>agC	p.R440S	ITSN2_ENST00000406921.3_Missense_Mutation_p.R440S|ITSN2_ENST00000361999.3_Missense_Mutation_p.R440S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	440					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCTTTTCTCCTTTCTTCCT	0.299													50	18					0	0	0	0	G	24522802	C	G	24522802	3	3	178	1	0	0	0	0	1	0	0	0	7980	854	30	2	3940	2	ITSN2	2	24522802	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	6576623	24522802	218676571	71	31055											
ITSN2	50618	broad.mit.edu	37	chr2	24522843	24522843	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccaattcccgttgcttctCtaagcgtttttctaattcaa	8	17	4	12	2	3	0	1	0	2	0	6	0	5	0	2	0	2	3	2	0	4	8			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:24522843C>G	ENST00000355123.4	-	12	1722	c.1279G>C	c.(1279-1281)Gag>Cag	p.E427Q	ITSN2_ENST00000406921.3_Missense_Mutation_p.E427Q|ITSN2_ENST00000361999.3_Missense_Mutation_p.E427Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	427					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTTGCTTCTCTAAGCGTTTT	0.358													70	25					0	0	0	0	G	24522843	C	G	24522843	3	3	178	1	0	0	0	0	1	0	0	0	7980	922	32	2	3981	2	ITSN2	2	24522843	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	41	24522843	218676530	72	31056											
IFT172	26160	broad.mit.edu	37	chr2	27712512	27712512	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagggtcctcaggtgcttCaagtgcatgacgcacacctg	9	8	12	12	1	2	1	2	1	0	0	3	1	3	1	2	2	3	4	2	2	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:27712512C>T	ENST00000260570.3	-	1	112	c.9G>A	c.(7-9)ttG>ttA	p.L3L	IFT172_ENST00000359466.6_Silent_p.L3L|IFT172_ENST00000416524.2_5'UTR	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	3					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCAGGTGCTTCAAGTGCATGA	0.562													26	12					0	0	0	0	T	27712512	C	T	27712512	2	4	178	1	0	0	0	0	0	0	0	1	7610	825	29	2		2	IFT172	2	27712512	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	3189669	27712512	215486861	73	31057											
LTBP1	4052	broad.mit.edu	37	chr2	33488459	33488459	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcctactcaagtgacaGgttggtgcagtatttttaca	9	15	9	8	0	1	1	1	1	0	0	2	1	2	1	1	2	4	4	1	2	4	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:33488459G>T	ENST00000404816.2	+	15	2970	c.2617_splice	c.e15+1	p.E873_splice	LTBP1_ENST00000402934.1_Splice_Site_p.E494_splice|LTBP1_ENST00000404525.1_Splice_Site_p.E494_splice|LTBP1_ENST00000418533.2_Splice_Site_p.E547_splice|LTBP1_ENST00000354476.3_Splice_Site_p.E874_splice|LTBP1_ENST00000407925.1_Splice_Site_p.E547_splice|LTBP1_ENST00000390003.4_Splice_Site_p.E548_splice			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	873	EGF-like 4; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCAAGTGACAGGTTGGTGCAG	0.428													32	71					1.62565e-12	1.71278e-12	1	0	T	33488459	G	T	33488459	5	4	178	1	0	0	0	0	0	0	1	0	9137	1014	35	4	2730	4	LTBP1	2	33488459	Splice_Site	SNP	G	TCGA-CR-6472-01A-11D-1870-08	5775947	33488459	209710914	74	31058											
SOS1	6654	broad.mit.edu	37	chr2	39262376	39262376	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaagttcaaagtaatggaGacagtggtaaacaggggcca	17	6	12	6	0	1	1	1	0	0	1	1	2	1	1	1	4	1	3	1	4	6	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:39262376G>C	ENST00000426016.1	-	9	1137	c.1051C>G	c.(1051-1053)Ctc>Gtc	p.L351V	SOS1_ENST00000428721.2_Missense_Mutation_p.L294V|SOS1_ENST00000395038.2_Missense_Mutation_p.L351V|SOS1_ENST00000402219.2_Missense_Mutation_p.L351V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	351	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAGTAATGGAGACAGTGGTAA	0.313									Noonan syndrome				3	13					0	0	0	0	C	39262376	G	C	39262376	3	2	178	1	0	0	0	0	1	0	0	0	15024	942	33	2	3014	2	SOS1	2	39262376	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	5773917	39262376	203936997	75	31059											
EPCAM	4072	broad.mit.edu	37	chr2	47596657	47596657	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcagcatggcgcccccgCaggtcctcgcgttcgggctt	3	7	14	17	7	0	0	0	0	0	0	3	0	1	0	3	3	1	5	3	3	0	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:47596657C>T	ENST00000263735.4	+	1	371	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	EPCAM_ENST00000405271.1_Intron	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	5					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GGCGCCCCCGCAGGTCCTCGC	0.741													8	5					0	0	0	0	T	47596657	C	T	47596657	4	4	178	1	0	0	0	0	0	1	0	0	5200	711	25	4	15	4	EPCAM	2	47596657	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	8334281	47596657	195602716	76	31060											
RTN4	57142	broad.mit.edu	37	chr2	55253905	55253905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtactggggaaagaagtatCatcattactactctcactat	13	12	7	9	1	3	1	3	0	1	1	4	2	3	2	0	2	3	2	0	2	7	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:55253905C>G	ENST00000337526.6	-	3	1573	c.1330G>C	c.(1330-1332)Gat>Cat	p.D444H	RTN4_ENST00000354474.6_Missense_Mutation_p.D212H|RTN4_ENST00000394611.2_Missense_Mutation_p.D238H|RTN4_ENST00000404909.1_Missense_Mutation_p.D238H|RTN4_ENST00000405240.1_Missense_Mutation_p.D238H|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.D238H|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	444					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AAAGAAGTATCATCATTACTA	0.398													5	240					0	0	0	0	G	55253905	C	G	55253905	3	3	178	1	0	0	0	0	1	0	0	0	13813	826	29	2	2314	2	RTN4	2	55253905	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	7657248	55253905	187945468	77	31061											
AAK1	22848	broad.mit.edu	37	chr2	69732794	69732794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgagcctccaagcttctCgggatgtttgcctggagaga	8	10	13	10	1	1	2	0	1	1	1	3	5	2	4	3	2	4	3	3	2	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:69732794C>T	ENST00000409085.4	-	16	2552	c.2176G>A	c.(2176-2178)Gag>Aag	p.E726K	AAK1_ENST00000409068.1_Intron|AAK1_ENST00000406297.3_Missense_Mutation_p.E726K	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	726						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.E726K(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CCAAGCTTCTCGGGATGTTTG	0.488													13	5					0	0	0	0	T	69732794	C	T	69732794	3	4	178	1	0	0	0	0	1	0	0	0	16	893	31	1	737	1	AAK1	2	69732794	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	14478889	69732794	173466579	78	31062											
EXOC6B	23233	broad.mit.edu	37	chr2	72562091	72562091	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttacttgtctcaagtcgatGaaggccaactgcagcgtgtc	9	11	10	11	2	1	1	1	1	1	0	4	2	1	1	1	1	4	1	1	1	4	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:72562091G>A	ENST00000272427.6	-	20	2311	c.2181C>T	c.(2179-2181)ttC>ttT	p.F727F	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	727					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCAAGTCGATGAAGGCCAACT	0.458													48	33					0	0	0	0	A	72562091	G	A	72562091	2	1	178	1	0	0	0	0	0	0	0	1	5346	1281	45	2		2	EXOC6B	2	72562091	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2829297	72562091	170637282	79	31063											
POLR1A	25885	broad.mit.edu	37	chr2	86276328	86276328	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaatgatacgttgcctcttGacatctgcctttggcttcac	7	15	7	12	1	4	2	2	2	2	0	4	2	4	2	2	1	3	2	2	1	2	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:86276328G>C	ENST00000263857.6	-	17	2808	c.2430C>G	c.(2428-2430)gtC>gtG	p.V810V	POLR1A_ENST00000409681.1_Silent_p.V810V			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	810					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTTGCCTCTTGACATCTGCCT	0.542													46	30					0	0	0	0	C	86276328	G	C	86276328	2	2	178	1	0	0	0	0	0	0	0	1	12281	1277	45	2		2	POLR1A	2	86276328	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	13714237	86276328	156923045	80	31064											
LMAN2L	81562	broad.mit.edu	37	chr2	97400156	97400156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcccaatacctggctgcatCcgatcctttgtgtaccagat	8	12	7	14	1	0	1	0	0	0	1	3	2	3	1	5	1	3	3	5	1	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:97400156C>G	ENST00000426463.2	-	3	437	c.62G>C	c.(61-63)gGa>gCa	p.G21A	LMAN2L_ENST00000264963.4_Silent_p.R138R|LMAN2L_ENST00000377079.4_Silent_p.R138R|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000534882.1_Missense_Mutation_p.G21A			Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	0					ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CTGGCTGCATCCGATCCTTTG	0.498													53	49					0	0	0	0	G	97400156	C	G	97400156	3	3	178	1	0	0	0	0	1	0	0	0	8894	842	30	2	693	2	LMAN2L	2	97400156	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	11123828	97400156	145799217	81	31065											
NEB	4703	broad.mit.edu	37	chr2	152507244	152507244	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatgtccactgggctggaGaacttagttttccacttctc	9	13	8	11	0	1	1	0	0	1	1	4	2	3	1	2	2	2	2	2	2	3	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:152507244G>A	ENST00000397345.3	-	53	7273	c.7071C>T	c.(7069-7071)ttC>ttT	p.F2357F	NEB_ENST00000427231.2_Silent_p.F2357F|NEB_ENST00000172853.10_Silent_p.F2357F|NEB_ENST00000604864.1_Silent_p.F2357F|NEB_ENST00000603639.1_Silent_p.F2357F|NEB_ENST00000409198.1_Silent_p.F2357F	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2357					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGGGCTGGAGAACTTAGTTT	0.458													135	108					0	0	0	0	A	152507244	G	A	152507244	2	1	178	1	0	0	0	0	0	0	0	1	10372	933	33	2		2	NEB	2	152507244	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	55107088	152507244	90692129	82	31066											
PRPF40A	55660	broad.mit.edu	37	chr2	153573906	153573906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagctcccgtccccggcctCatcgtcgggctcagactgct	4	9	10	18	4	3	1	3	0	0	1	7	1	5	1	4	2	2	3	4	2	0	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:153573906C>T	ENST00000410080.1	-	1	589	c.48G>A	c.(46-48)atG>atA	p.M16I	PRPF40A_ENST00000486100.1_5'UTR	NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	1					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCCCCGGCCTCATCGTCGGGC	0.642													14	11					0	0	0	0	T	153573906	C	T	153573906	3	4	178	1	0	0	0	0	1	0	0	0	12651	826	29	2	2848	2	PRPF40A	2	153573906	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1066662	153573906	89625467	83	31067											
KCNH7	90134	broad.mit.edu	37	chr2	163250937	163250937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatgacaatttccttcttCttagtttacagttgtctcct	9	18	4	10	0	3	1	0	1	3	0	5	1	4	1	2	0	1	2	2	0	4	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:163250937C>T	ENST00000332142.5	-	12	2771	c.2672G>A	c.(2671-2673)aGa>aAa	p.R891K		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	891					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTTCCTTCTTCTTAGTTTACA	0.333													30	19					0	0	0	0	T	163250937	C	T	163250937	3	4	178	1	0	0	0	0	1	0	0	0	8090	913	32	2	938	2	KCNH7	2	163250937	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	9677031	163250937	79948436	84	31068											
PLEKHA3	65977	broad.mit.edu	37	chr2	179365828	179365828	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagtatctacacttcacCgactctcccagcgacgccga	11	7	6	17	4	3	0	1	0	2	0	4	3	3	0	4	0	3	1	4	0	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:179365828C>T	ENST00000234453.4	+	7	1102	c.700C>T	c.(700-702)Cga>Tga	p.R234*		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	234						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TACACTTCACCGACTCTCCCA	0.388													57	29					0	0	0	0	T	179365828	C	T	179365828	4	4	178	1	0	0	0	0	0	1	0	0	12129	644	23	1	726	1	PLEKHA3	2	179365828	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	16114891	179365828	63833545	85	31069											
TTN	7273	broad.mit.edu	37	chr2	179416824	179416824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcttccagttagtttgtGaagtttcccgcttctcgatg	6	16	8	11	2	2	1	0	1	2	0	5	2	4	1	3	0	0	4	3	0	2	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:179416824G>A	ENST00000589042.1	-	335	91027	c.90803C>T	c.(90802-90804)tCa>tTa	p.S30268L	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27700L|TTN_ENST00000342175.6_Missense_Mutation_p.S21395L|TTN_ENST00000359218.5_Missense_Mutation_p.S21328L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S28627L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S21203L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28627							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)			GTTAGTTTGTGAAGTTTCCCG	0.423													67	40					0	0	0	0	A	179416824	G	A	179416824	3	1	178	1	0	0	0	0	1	0	0	0	16831	1294	45	2	17288	2	TTN	2	179416824	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	50996	179416824	63782549	86	31070											
COL5A2	1290	broad.mit.edu	37	chr2	189932835	189932835	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggaccagaggtacctggaGagccctattaaacagcaaga	15	5	12	9	0	0	3	0	0	0	3	0	6	0	4	3	3	4	2	3	3	5	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:189932835G>C	ENST00000374866.3	-	21	1581	c.1307C>G	c.(1306-1308)tCt>tGt	p.S436C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	436					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTACCTGGAGAGCCCTATTA	0.537													34	29					0	0	0	0	C	189932835	G	C	189932835	3	2	178	1	0	0	0	0	1	0	0	0	3727	942	33	2	3328	2	COL5A2	2	189932835	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	10516011	189932835	53266538	87	31071											
C2orf62	375307	broad.mit.edu	37	chr2	219229377	219229377	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcttccagaccatccaGgtagaccatcagcaggctga	10	7	11	13	0	1	3	1	1	0	2	3	3	3	3	4	3	1	4	4	3	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:219229377G>A	ENST00000289388.3	+	7	686	c.657G>A	c.(655-657)caG>caA	p.Q219Q	C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	219										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACCATCCAGGTAGACCATC	0.582													24	11					0	0	0	0	A	219229377	G	A	219229377	2	1	178	1	0	0	0	0	0	0	0	1	2201	991	35	4		4	C2orf62	2	219229377	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	29296542	219229377	23969996	88	31072											
TRIP12	9320	broad.mit.edu	37	chr2	230643289	230643289	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttttgaatatacttggTcccttcttggctccctgaaa	8	15	9	9	0	1	2	0	2	1	0	3	3	3	2	2	3	1	2	2	3	4	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:230643289T>C	ENST00000283943.5	-	35	5177	c.4999A>G	c.(4999-5001)Acc>Gcc	p.T1667A	TRIP12_ENST00000389044.4_Missense_Mutation_p.T1715A|TRIP12_ENST00000389045.3_Missense_Mutation_p.T1397A	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1667					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATATACTTGGTCCCTTCTTGG	0.403													30	39					0	0	0	0	C	230643289	T	C	230643289	3	2	178	1	0	0	0	0	1	0	0	0	16651	1667	58	5	1007	5	TRIP12	2	230643289	Missense_Mutation	SNP	T	TCGA-CR-6472-01A-11D-1870-08	11413912	230643289	12556084	89	31073											
ITM2C	81618	broad.mit.edu	37	chr2	231742261	231742261	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctccggcgccgggcaacgcgGaggcgtgagtggctggcttc	4	6	18	13	6	0	1	0	1	0	0	2	2	1	2	2	6	1	3	2	6	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:231742261G>A	ENST00000326427.6	+	5	834	c.708G>A	c.(706-708)cgG>cgA	p.R236R	ITM2C_ENST00000409704.2_Silent_p.R174R|ITM2C_ENST00000335005.6_Silent_p.R189R|ITM2C_ENST00000326407.6_Silent_p.R199R	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	236					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGCAACGCGGAGGCGTGAGT	0.622													23	26					0	0	0	0	A	231742261	G	A	231742261	2	1	178	1	0	0	0	0	0	0	0	1	7967	1161	41	2		2	ITM2C	2	231742261	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1098972	231742261	11457112	90	31074											
EIF4E2	9470	broad.mit.edu	37	chr2	233421129	233421129	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgcctttccattcagtttGaaagatgatgacagtgggga	10	13	12	6	0	1	4	1	3	0	1	2	5	2	5	2	2	1	2	2	2	1	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:233421129G>C	ENST00000409514.1	+	2	66	c.24G>C	c.(22-24)ttG>ttC	p.L8F	EIF4E2_ENST00000409495.1_Missense_Mutation_p.L8F|EIF4E2_ENST00000479834.1_3'UTR|EIF4E2_ENST00000409167.3_Missense_Mutation_p.L8F|EIF4E2_ENST00000409098.1_Missense_Mutation_p.L8F|EIF4E2_ENST00000258416.3_Missense_Mutation_p.L8F|EIF4E2_ENST00000409394.1_Missense_Mutation_p.L8F|EIF4E2_ENST00000409322.1_Missense_Mutation_p.L8F			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	8				MNNKFDALKDDDSGDHDQNEENSTQKD -> MMTVGTMIRM KKTAHRKI (in Ref. 3; AAC39871).	regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CATTCAGTTTGAAAGATGATG	0.413													14	11					0	0	0	0	C	233421129	G	C	233421129	3	2	178	1	0	0	0	0	1	0	0	0	5068	1281	45	2	30	2	EIF4E2	2	233421129	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1678868	233421129	9778244	91	31075											
CRELD1	78987	broad.mit.edu	37	chr3	9984547	9984547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtggagctgaccaattcTgcgtgaacactgagggctcc	9	9	12	11	1	1	3	0	3	1	0	2	4	2	4	2	2	3	2	2	2	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:9984547T>C	ENST00000383811.3	+	7	1383	c.784T>C	c.(784-786)Tgc>Cgc	p.C262R	CRELD1_ENST00000397170.3_Missense_Mutation_p.C262R|CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000452070.1_Missense_Mutation_p.C262R|CRELD1_ENST00000326434.5_Missense_Mutation_p.C262R	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	262					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TGACCAATTCTGCGTGAACAC	0.542													32	47					0	0	0	0	C	9984547	T	C	9984547	3	2	178	1	0	0	0	0	1	0	0	0	3896	1580	55	5	810	5	CRELD1	3	9984547	Missense_Mutation	SNP	T	TCGA-CR-6472-01A-11D-1870-08		9984547	188037883	92	31076											
IRAK2	3656	broad.mit.edu	37	chr3	10264363	10264363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctcacccccaaacttgctCacccaatggctcatctgtgt	9	11	5	16	0	4	0	3	0	2	0	5	0	4	0	3	1	2	2	3	1	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:10264363C>T	ENST00000256458.4	+	9	1147	c.1057C>T	c.(1057-1059)Cac>Tac	p.H353Y		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	353	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CAAACTTGCTCACCCAATGGC	0.473													68	111					0	0	0	0	T	10264363	C	T	10264363	3	4	178	1	0	0	0	0	1	0	0	0	7876	826	29	2	1091	2	IRAK2	3	10264363	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	279816	10264363	187758067	93	31077											
TSEN2	80746	broad.mit.edu	37	chr3	12545233	12545233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accatgagtacgtgctggtcGaggaagcggagtgtgccatg	9	8	16	8	3	0	1	0	1	0	0	1	4	0	3	2	3	4	2	2	3	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:12545233G>A	ENST00000444864.1	+	5	1168	c.781G>A	c.(781-783)Gag>Aag	p.E261K	TSEN2_ENST00000415684.1_Missense_Mutation_p.E261K|TSEN2_ENST00000402228.3_Missense_Mutation_p.E261K|TSEN2_ENST00000383797.5_Missense_Mutation_p.E261K|TSEN2_ENST00000284995.6_Missense_Mutation_p.E261K|TSEN2_ENST00000314571.7_Missense_Mutation_p.E261K|TSEN2_ENST00000454502.2_Missense_Mutation_p.E202K	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	261					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CGTGCTGGTCGAGGAAGCGGA	0.567													14	28					0	0	0	0	A	12545233	G	A	12545233	3	1	178	1	0	0	0	0	1	0	0	0	16707	1059	37	1	795	1	TSEN2	3	12545233	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2280870	12545233	185477197	94	31078											
NR1D2	9975	broad.mit.edu	37	chr3	23996052	23996052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgattgcctatatcagttCttccagctcagcctcaagcc	8	13	7	13	0	4	1	3	1	1	0	5	1	5	1	4	0	4	2	4	0	3	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:23996052C>G	ENST00000312521.4	+	2	360	c.41C>G	c.(40-42)tCt>tGt	p.S14C	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	14	Poly-Ser.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TATATCAGTTCTTCCAGCTCA	0.398													57	94					0	0	0	0	G	23996052	C	G	23996052	3	3	178	1	0	0	0	0	1	0	0	0	10687	913	32	2	47	2	NR1D2	3	23996052	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	11450819	23996052	174026378	95	31079											
NEK10	152110	broad.mit.edu	37	chr3	27244013	27244013	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctactgcccagacatcagccTtctccccatacggctcactc	8	9	5	19	1	3	1	2	0	1	1	5	1	3	1	4	1	4	1	4	1	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:27244013T>G	ENST00000429845.2	-	25	2488	c.2126A>C	c.(2125-2127)aAg>aCg	p.K709T	NEK10_ENST00000383771.4_Missense_Mutation_p.K21T|NEK10_ENST00000383770.3_Missense_Mutation_p.K21T|NEK10_ENST00000357467.2_Missense_Mutation_p.K106T|NEK10_ENST00000295720.6_Missense_Mutation_p.K21T			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	709	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GACATCAGCCTTCTCCCCATA	0.478													27	35					0	0	0	0	G	27244013	T	G	27244013	3	3	178	1	0	0	0	0	1	0	0	0	10392	1624	56	5		5	NEK10	3	27244013	Missense_Mutation	SNP	T	TCGA-CR-6472-01A-11D-1870-08	3247961	27244013	170778417	96	31080											
ZNF860	344787	broad.mit.edu	37	chr3	32031248	32031248	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaacaggaagtacacataaGagaaaaatctttccaatgta	21	8	6	6	0	1	1	0	0	1	1	2	3	2	2	1	1	2	2	1	1	9	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:32031248G>C	ENST00000360311.4	+	2	1226	c.677G>C	c.(676-678)aGa>aCa	p.R226T		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GTACACATAAGAGAAAAATCT	0.308													29	83					0	0	0	0	C	32031248	G	C	32031248	3	2	178	1	0	0	0	0	1	0	0	0	18287	942	33	2	679	2	ZNF860	3	32031248	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	4787235	32031248	165991182	97	31081											
CNOT10	25904	broad.mit.edu	37	chr3	32776347	32776347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtttgcagccatatgtCtcagaaatgccttgttgctg	8	14	11	8	0	1	1	1	0	1	1	2	2	1	2	2	1	4	4	2	1	2	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:32776347C>A	ENST00000328834.5	+	12	1709	c.1393C>A	c.(1393-1395)Ctc>Atc	p.L465I	CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000454516.2_Missense_Mutation_p.L525I|CNOT10_ENST00000538368.1_Missense_Mutation_p.L237I|CNOT10_ENST00000331889.6_Missense_Mutation_p.L465I	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	465					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AGCCATATGTCTCAGAAATGC	0.408													93	167					1.66795e-42	1.84383e-42	1	0	A	32776347	C	A	32776347	3	1	178	1	0	0	0	0	1	0	0	0	3648	913	32	2	1439	2	CNOT10	3	32776347	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	745099	32776347	165246083	98	31082											
TRANK1	9881	broad.mit.edu	37	chr3	36884182	36884182	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggagttgaggtcttaacGaacatgctatcatcaaagtc	13	10	10	8	1	3	1	2	1	1	0	4	3	3	2	0	2	3	3	0	2	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:36884182G>A	ENST00000429976.2	-	17	5326	c.5079C>T	c.(5077-5079)ttC>ttT	p.F1693F	TRANK1_ENST00000428977.2_Silent_p.F1143F|TRANK1_ENST00000301807.6_Silent_p.F1143F|TRANK1_ENST00000463984.1_5'UTR			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1693					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGGTCTTAACGAACATGCTAT	0.463													10	28					0	0	0	0	A	36884182	G	A	36884182	2	1	178	1	0	0	0	0	0	0	0	1	16549	1049	37	1		1	TRANK1	3	36884182	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	4107835	36884182	161138248	99	31083											
TMEM42	131616	broad.mit.edu	37	chr3	44903512	44903512	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgcacctccaggcgggtgcGatgcggcgccgcttttgggg	3	7	17	14	6	0	0	0	0	0	0	1	1	1	0	4	5	2	2	4	5	0	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:44903512G>C	ENST00000302392.4	+	1	152	c.96G>C	c.(94-96)gcG>gcC	p.A32A		NM_144638.1	NP_653239.1	Q69YG0	TMM42_HUMAN	transmembrane protein 42	32						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		AGGCGGGTGCGATGCGGCGCC	0.741													4	3					0	0	0	0	C	44903512	G	C	44903512	2	2	178	1	0	0	0	0	0	0	0	1	16260	1045	37	3		3	TMEM42	3	44903512	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	8019330	44903512	153118918	100	31084											
PLXNB1	5364	broad.mit.edu	37	chr3	48451107	48451107	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctggtgctgagaatcacctgGaacaggtcatccacgaactt	11	9	10	11	1	2	1	2	1	0	1	3	4	3	2	2	3	3	1	2	3	3	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:48451107G>C	ENST00000358536.4	-	33	6080	c.5811C>G	c.(5809-5811)ttC>ttG	p.F1937L	PLXNB1_ENST00000358459.4_Missense_Mutation_p.F1754L|PLXNB1_ENST00000448774.2_Missense_Mutation_p.F548L|PLXNB1_ENST00000296440.6_Missense_Mutation_p.F1937L|PLXNB1_ENST00000456774.1_Missense_Mutation_p.F1754L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1937					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAATCACCTGGAACAGGTCAT	0.607													20	48					0	0	0	0	C	48451107	G	C	48451107	3	2	178	1	0	0	0	0	1	0	0	0	12195	1165	41	2	620	2	PLXNB1	3	48451107	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3547595	48451107	149571323	101	31085											
CELSR3	1951	broad.mit.edu	37	chr3	48699002	48699002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtagactaggcgcccggcctCgccggcgtccgggtcctgag	4	6	16	15	6	0	2	0	1	0	1	3	2	2	2	5	4	0	1	5	4	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:48699002C>G	ENST00000544264.1	-	1	1346	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	CELSR3_ENST00000164024.4_Missense_Mutation_p.E356Q			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	356	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCCGGCCTCGCCGGCGTCC	0.672													24	45					0	0	0	0	G	48699002	C	G	48699002	3	3	178	1	0	0	0	0	1	0	0	0	3252	893	31	3	9012	3	CELSR3	3	48699002	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	247895	48699002	149323428	102	31086											
USP19	10869	broad.mit.edu	37	chr3	49152909	49152909	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccggagttcccgagtgttgGacagagactgaatgacgctg	9	8	14	10	3	0	3	0	2	0	1	1	7	1	5	2	2	0	3	2	2	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49152909G>C	ENST00000453664.1	-	12	2138	c.1820C>G	c.(1819-1821)tCc>tGc	p.S607C	USP19_ENST00000398898.2_Missense_Mutation_p.S556C|USP19_ENST00000398892.3_Missense_Mutation_p.S556C|USP19_ENST00000417901.1_Missense_Mutation_p.S619C|USP19_ENST00000434032.2_Missense_Mutation_p.S617C|USP19_ENST00000398888.2_Missense_Mutation_p.S516C|USP19_ENST00000398896.1_Missense_Mutation_p.S324C	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	516					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGAGTGTTGGACAGAGACTG	0.547													49	56					0	0	0	0	C	49152909	G	C	49152909	3	2	178	1	0	0	0	0	1	0	0	0	17146	1174	41	2	2473	2	USP19	3	49152909	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	453907	49152909	148869521	103	31087											
USP19	10869	broad.mit.edu	37	chr3	49155409	49155409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctgctcctcttgaggagtgGatgctgaccctgacgatgaa	8	11	12	10	1	2	4	0	4	2	0	3	7	3	6	2	2	2	2	2	2	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49155409G>A	ENST00000453664.1	-	3	587	c.269C>T	c.(268-270)tCc>tTc	p.S90F	USP19_ENST00000398898.2_Missense_Mutation_p.S43F|USP19_ENST00000398892.3_Missense_Mutation_p.S43F|USP19_ENST00000417901.1_Missense_Mutation_p.S90F|USP19_ENST00000434032.2_Missense_Mutation_p.S90F|USP19_ENST00000398888.2_Missense_Mutation_p.S90F|USP19_ENST00000398896.1_5'UTR|USP19_ENST00000488993.1_5'UTR	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	90					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGAGGAGTGGATGCTGACCC	0.567													63	43					0	0	0	0	A	49155409	G	A	49155409	3	1	178	1	0	0	0	0	1	0	0	0	17146	1174	41	2	3783	2	USP19	3	49155409	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2500	49155409	148867021	104	31088											
CCDC36	339834	broad.mit.edu	37	chr3	49278740	49278740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagatggaggtttatttcctCctcctttgtcagttggaaaa	10	15	9	7	0	1	1	1	0	0	1	4	3	4	3	3	3	0	2	3	3	4	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49278740C>T	ENST00000438782.1	+	4	549	c.313C>T	c.(313-315)Cct>Tct	p.P105S	CCDC36_ENST00000366429.2_Missense_Mutation_p.P105S|CCDC36_ENST00000296449.5_Missense_Mutation_p.P105S|CCDC36_ENST00000452691.2_Missense_Mutation_p.P105S|CCDC36_ENST00000451634.2_Missense_Mutation_p.P95S			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	105										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TTTATTTCCTCCTCCTTTGTC	0.383													15	33					0	0	0	0	T	49278740	C	T	49278740	3	4	178	1	0	0	0	0	1	0	0	0	2834	855	30	2	323	2	CCDC36	3	49278740	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	123331	49278740	148743690	105	31089											
MST1R	4486	broad.mit.edu	37	chr3	49929191	49929191	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcttctgccccacttacGacttagtgacttgatggcac	8	12	7	14	1	2	2	0	2	2	0	2	3	2	2	3	1	2	1	3	1	2	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49929191G>A	ENST00000296474.3	-	15	3379	c.3352_splice	c.e15+1	p.R1118_splice	MST1R_ENST00000344206.4_Splice_Site_p.R1069_splice	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1118	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCCCACTTACGACTTAGTGAC	0.527													49	86					0	0	0	0	A	49929191	G	A	49929191	5	1	178	1	0	0	0	0	0	0	1	0	9961	1072	37	1	874	1	MST1R	3	49929191	Splice_Site	SNP	G	TCGA-CR-6472-01A-11D-1870-08	650451	49929191	148093239	106	31090											
SEMA3B	7869	broad.mit.edu	37	chr3	50307782	50307782	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaccccactccagcctggaGagacccagaggaatggctcc	10	4	12	15	0	0	2	0	0	0	2	2	6	2	5	6	4	1	1	6	4	1	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:50307782G>C	ENST00000418948.1	+	0	501							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCAGCCTGGAGAGACCCAGAG	0.637													8	17					0	0	0	0	C	50307782	G	C	50307782	1	2	178	0	1	0	0	0	0	0	0	0	14112	957	33	2		2	SEMA3B	3	50307782	RNA	SNP	G	TCGA-CR-6472-01A-11D-1870-08	378591	50307782	147714648	107	31091											
SEMA3B	7869	broad.mit.edu	37	chr3	50308001	50308001	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagggcagggctaaaacaGaggcctgcctgttctggctg	9	7	15	10	0	1	1	0	0	1	1	1	2	1	1	2	4	2	4	2	4	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:50308001G>C	ENST00000418948.1	+	0	564							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGCTAAAACAGAGGCCTGCCT	0.652													6	15					0	0	0	0	C	50308001	G	C	50308001	1	2	178	0	1	0	0	0	0	0	0	0	14112	957	33	2		2	SEMA3B	3	50308001	RNA	SNP	G	TCGA-CR-6472-01A-11D-1870-08	219	50308001	147714429	108	31092											
PDZRN3	23024	broad.mit.edu	37	chr3	73651507	73651507	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggccagtattcacatacctCaataatcctgtcatgaattt	12	14	5	10	0	3	1	3	1	0	0	4	1	4	1	3	1	1	1	3	1	5	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:73651507C>G	ENST00000263666.4	-	3	1030	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	PDZRN3_ENST00000308537.4_Missense_Mutation_p.E306Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	306	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCACATACCTCAATAATCCTG	0.478													79	133					0	0	0	0	G	73651507	C	G	73651507	3	3	178	1	0	0	0	0	1	0	0	0	11780	835	29	2	2316	2	PDZRN3	3	73651507	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	23343506	73651507	124370923	109	31093											
ROBO1	6091	broad.mit.edu	37	chr3	78737857	78737857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccggttgcttcacactGaaaagttacagtccgtccca	10	12	7	12	2	1	1	1	1	0	0	4	1	4	1	3	1	2	3	3	1	3	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:78737857G>T	ENST00000436010.2	-	7	1991	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	ROBO1_ENST00000495273.1_Missense_Mutation_p.Q335K|ROBO1_ENST00000467549.1_Missense_Mutation_p.Q335K|ROBO1_ENST00000464233.1_Missense_Mutation_p.Q371K			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	371	Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GCTTCACACTGAAAAGTTACA	0.413													7	8					0.00198382	0.00199971	1	0	T	78737857	G	T	78737857	3	4	178	1	0	0	0	0	1	0	0	0	13598	1299	45	2	3936	2	ROBO1	3	78737857	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	5086350	78737857	119284573	110	31094											
PROS1	5627	broad.mit.edu	37	chr3	93646189	93646189	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaccctgtttggtttcttCaagtaaagaatttgcacgac	11	15	7	8	1	2	1	1	0	1	1	2	2	2	1	1	1	2	4	1	1	5	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:93646189C>G	ENST00000394236.3	-	2	455	c.139G>C	c.(139-141)Gaa>Caa	p.E47Q	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	47	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTGGTTTCTTCAAGTAAAGAA	0.388													38	53					0	0	0	0	G	93646189	C	G	93646189	3	3	178	1	0	0	0	0	1	0	0	0	12638	835	29	2	1947	2	PROS1	3	93646189	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	14908332	93646189	104376241	111	31095											
EPHA6	285220	broad.mit.edu	37	chr3	97439174	97439174	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaaaattctcctcagcaagcGatgcatggagctatggcatt	12	10	10	9	1	2	0	1	0	1	0	3	3	2	1	1	2	4	4	1	2	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:97439174G>C	ENST00000389672.5	+	15	2892	c.2854G>C	c.(2854-2856)Gat>Cat	p.D952H		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	857						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTCAGCAAGCGATGCATGGAG	0.463													38	53					0	0	0	0	C	97439174	G	C	97439174	3	2	178	1	0	0	0	0	1	0	0	0	5209	1058	37	3	3029	3	EPHA6	3	97439174	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3792985	97439174	100583256	112	31096											
KIAA1407	57577	broad.mit.edu	37	chr3	113724488	113724488	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgcaggtttttcttcagctCgagaattgttttctgctgtt	5	19	9	8	1	3	1	1	0	2	1	4	2	3	1	0	1	3	6	0	1	1	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:113724488C>G	ENST00000295878.3	-	10	1881	c.1735G>C	c.(1735-1737)Gag>Cag	p.E579Q	KIAA1407_ENST00000545063.1_Missense_Mutation_p.E410Q	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	579										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTCTTCAGCTCGAGAATTGTT	0.507													48	96					0	0	0	0	G	113724488	C	G	113724488	3	3	178	1	0	0	0	0	1	0	0	0	8280	893	31	3	1107	3	KIAA1407	3	113724488	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	16285314	113724488	84297942	113	31097											
C3orf30	152405	broad.mit.edu	37	chr3	118865466	118865466	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggaggaaagaactgctGaacagactgaacgaagatta	17	6	12	6	2	0	6	0	3	0	3	0	9	0	8	0	2	4	1	0	2	6	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:118865466G>T	ENST00000295622.1	+	1	470	c.430G>T	c.(430-432)Gaa>Taa	p.E144*		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	144										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAGAACTGCTGAACAGACTGA	0.488													19	37					1.45105e-14	1.53397e-14	1	0	T	118865466	G	T	118865466	4	4	178	1	0	0	0	0	0	1	0	0	2240	1291	45	2	432	2	C3orf30	3	118865466	Nonsense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	5140978	118865466	79156964	114	31098											
POLQ	10721	broad.mit.edu	37	chr3	121258384	121258384	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagagaaatgccttgatggaGaggtgctgcccatataaccg	13	8	12	8	1	0	3	0	1	0	2	0	5	0	3	3	2	4	1	3	2	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:121258384G>C	ENST00000264233.5	-	4	655	c.527C>G	c.(526-528)tCt>tGt	p.S176C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	176	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTTGATGGAGAGGTGCTGCC	0.393								DNA polymerases (catalytic subunits)					22	48					0	0	0	0	C	121258384	G	C	121258384	3	2	178	1	0	0	0	0	1	0	0	0	12280	942	33	2	7353	2	POLQ	3	121258384	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2392918	121258384	76764046	115	31099											
CHCHD6	84303	broad.mit.edu	37	chr3	126451938	126451938	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtatgaacaggagcatgCtgctatccaggataagctct	12	9	11	9	0	1	1	0	1	1	0	2	3	2	3	1	3	5	5	1	3	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:126451938C>G	ENST00000508789.1	+	4	356	c.284C>G	c.(283-285)gCt>gGt	p.A95G	CHCHD6_ENST00000290913.3_Missense_Mutation_p.A95G			Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	95			A -> S (in dbSNP:rs2272487).							endometrium(2)|large_intestine(3)|lung(3)	8						CAGGAGCATGCTGCTATCCAG	0.552													8	57					0	0	0	0	G	126451938	C	G	126451938	3	3	178	1	0	0	0	0	1	0	0	0	3349	797	28	4	298	4	CHCHD6	3	126451938	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	5193554	126451938	71570492	116	31100											
COL6A6	131873	broad.mit.edu	37	chr3	130293197	130293197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccaggccgcggaagccctGagacacagaggtatcgacat	11	4	13	13	3	0	2	0	1	0	2	1	5	0	3	3	3	1	1	3	3	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:130293197G>A	ENST00000358511.6	+	7	3406	c.3375G>A	c.(3373-3375)ctG>ctA	p.L1125L	COL6A6_ENST00000453409.2_Silent_p.L1125L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1125	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGAAGCCCTGAGACACAGAG	0.567													27	52					0	0	0	0	A	130293197	G	A	130293197	2	1	178	1	0	0	0	0	0	0	0	1	3733	1277	45	2		2	COL6A6	3	130293197	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3841259	130293197	67729233	117	31101											
ACAD11	84129	broad.mit.edu	37	chr3	132294631	132294631	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcacatgtgcatacaacttCttcttgaaagctatcctttg	10	15	5	11	0	3	1	1	1	2	0	4	1	4	1	1	0	4	2	1	0	4	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:132294631C>G	ENST00000264990.6	-	17	2957	c.1986G>C	c.(1984-1986)aaG>aaC	p.K662N	ACAD11_ENST00000545291.1_Missense_Mutation_p.K187N|ACAD11_ENST00000355458.3_Intron	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CATACAACTTCTTCTTGAAAG	0.438													23	54					0	0	0	0	G	132294631	C	G	132294631	3	3	178	1	0	0	0	0	1	0	0	0	109	912	32	2	372	2	ACAD11	3	132294631	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	2001434	132294631	65727799	118	31102											
UBA5	79876	broad.mit.edu	37	chr3	132394720	132394720	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaaatttttcaggtccagttCcagacttacctgaaggaatt	13	13	7	8	0	1	2	1	1	0	1	3	3	3	3	3	2	1	1	3	2	5	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:132394720C>G	ENST00000356232.4	+	11	2156	c.1084C>G	c.(1084-1086)Cca>Gca	p.P362A	UBA5_ENST00000494238.2_Missense_Mutation_p.P306A|UBA5_ENST00000473651.1_Intron|UBA5_ENST00000493720.2_Missense_Mutation_p.362_362insA|UBA5_ENST00000264991.4_Missense_Mutation_p.P306A	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	362					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGGTCCAGTTCCAGACTTACC	0.308													24	33					0	0	0	0	G	132394720	C	G	132394720	3	3	178	1	0	0	0	0	1	0	0	0	16926	855	30	2	1126	2	UBA5	3	132394720	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	100089	132394720	65627710	119	31103											
NPHP3	27031	broad.mit.edu	37	chr3	132423059	132423059	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactttctcaaatcccaactCatgggctgaattagaagcct	12	12	6	11	0	2	2	2	1	1	1	4	2	3	2	2	1	3	1	2	1	6	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:132423059C>G	ENST00000326682.8	-	9	1583	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q	NPHP3_ENST00000337331.5_Missense_Mutation_p.E503Q			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	503					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AATCCCAACTCATGGGCTGAA	0.363													95	106					0	0	0	0	G	132423059	C	G	132423059	3	3	178	1	0	0	0	0	1	0	0	0	10650	835	29	2	2561	2	NPHP3	3	132423059	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	28339	132423059	65599371	120	31104											
KY	339855	broad.mit.edu	37	chr3	134327552	134327552	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttgttgtagaattcactCttgtgatacatgttgttctc	7	19	7	8	0	3	2	1	1	2	1	4	2	3	2	1	0	1	4	1	0	3	8			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:134327552C>G	ENST00000508956.1	-	9	1023	c.966G>C	c.(964-966)aaG>aaC	p.K322N	KY_ENST00000423778.2_Missense_Mutation_p.K343N|KY_ENST00000503669.1_Intron			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	343						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGAATTCACTCTTGTGATACA	0.507													56	75					0	0	0	0	G	134327552	C	G	134327552	3	3	178	1	0	0	0	0	1	0	0	0	8639	912	32	2	964	2	KY	3	134327552	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1904493	134327552	63694878	121	31105											
PLS1	5357	broad.mit.edu	37	chr3	142394998	142394998	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaaggttttctcctttcaGaggaagaaaaagtggctttt	12	13	9	7	0	2	2	1	0	1	2	3	3	2	3	2	3	0	2	2	3	4	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:142394998G>C	ENST00000337777.3	+	5	577		c.e5-1		PLS1_ENST00000497002.1_Splice_Site|PLS1_ENST00000457734.2_Splice_Site	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1							cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TCTCCTTTCAGAGGAAGAAAA	0.353													20	50					0	0	0	0	C	142394998	G	C	142394998	5	2	178	1	0	0	0	0	0	0	1	0	12179	956	33	2	378	2	PLS1	3	142394998	Splice_Site	SNP	G	TCGA-CR-6472-01A-11D-1870-08	8067446	142394998	55627432	122	31106											
P2RY13	53829	broad.mit.edu	37	chr3	151046746	151046746	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctctggggcaccgctcaGatctgttgaagccttgcatc	6	12	11	12	1	3	2	1	1	2	1	5	2	3	2	2	2	2	4	2	2	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:151046746G>C	ENST00000325602.5	-	2	117	c.98C>G	c.(97-99)tCt>tGt	p.S33C	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	33						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GCACCGCTCAGATCTGTTGAA	0.458													62	80					0	0	0	0	C	151046746	G	C	151046746	3	2	178	1	0	0	0	0	1	0	0	0	11421	942	33	2	970	2	P2RY13	3	151046746	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	8651748	151046746	46975684	123	31107											
BCHE	590	broad.mit.edu	37	chr3	165548094	165548094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatggctctggtgaacaatGaatggcttccaggagaaagc	13	8	13	7	0	1	3	0	2	1	1	2	5	2	3	1	4	2	2	1	4	5	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:165548094G>A	ENST00000264381.3	-	2	894	c.728C>T	c.(727-729)tCa>tTa	p.S243L	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	243					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GGTGAACAATGAATGGCTTCC	0.438													35	132					0	0	0	0	A	165548094	G	A	165548094	3	1	178	1	0	0	0	0	1	0	0	0	1362	1294	45	2	1092	2	BCHE	3	165548094	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	14501348	165548094	32474336	124	31108											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540507	169540507	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acggaaatcgggctgagcggGaaccgcctggagaaggtgcc	10	4	17	10	4	0	2	0	1	0	1	1	5	0	4	3	5	3	1	3	5	3	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:169540507G>C	ENST00000340806.6	+	1	798	c.798G>C	c.(796-798)ggG>ggC	p.G266G		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	266										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GGCTGAGCGGGAACCGCCTGG	0.612													26	19					0	0	0	0	C	169540507	G	C	169540507	2	2	178	1	0	0	0	0	0	0	0	1	9095	1161	41	2		2	LRRIQ4	3	169540507	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3992413	169540507	28481923	125	31109											
FNDC3B	64778	broad.mit.edu	37	chr3	172096154	172096154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagaatccaggcagcaagcGaggctggagaagggcccttc	11	5	14	11	1	1	2	1	0	0	2	3	4	2	2	2	4	2	3	2	4	3	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:172096154G>A	ENST00000336824.4	+	24	3202	c.3103G>A	c.(3103-3105)Gag>Aag	p.E1035K	FNDC3B_ENST00000415807.2_Missense_Mutation_p.E1035K|FNDC3B_ENST00000416957.1_Missense_Mutation_p.E1035K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1035	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGCAGCAAGCGAGGCTGGAGA	0.488													50	42					0	0	0	0	A	172096154	G	A	172096154	3	1	178	1	0	0	0	0	1	0	0	0	6015	1059	37	1	3193	1	FNDC3B	3	172096154	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2555647	172096154	25926276	126	31110											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			46	44					0	0	0	0	A	178936091	G	A	178936091	3	1	178	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	6839937	178936091	19086339	127	31111											
BCL6	604	broad.mit.edu	37	chr3	187447411	187447411	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttctgggattgtttccttgGgtgaatagatattgctgtgg	6	17	13	5	0	1	2	0	1	1	1	2	3	2	3	1	3	1	2	1	3	3	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:187447411G>C	ENST00000406870.2	-	5	1148	c.782C>G	c.(781-783)cCc>cGc	p.P261R	BCL6_ENST00000450123.2_Missense_Mutation_p.P261R|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.P261R|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	261					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGTTTCCTTGGGTGAATAGAT	0.572			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								28	62					0	0	0	0	C	187447411	G	C	187447411	3	2	178	1	0	0	0	0	1	0	0	0	1380	1232	43	4	1362	4	BCL6	3	187447411	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	8511320	187447411	10575019	128	31112											
PPP1R2	5504	broad.mit.edu	37	chr3	195256617	195256617	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtaaggagtgcttggttCatctattttcattaaaccat	11	16	8	6	0	3	0	2	0	1	0	3	1	3	1	1	3	2	3	1	3	4	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:195256617C>A	ENST00000328432.3	-	2	568	c.208G>T	c.(208-210)Gaa>Taa	p.E70*		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	70					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		GTGCTTGGTTCATCTATTTTC	0.373													60	52					2.73361e-28	3.00077e-28	1	0	A	195256617	C	A	195256617	4	1	178	1	0	0	0	0	0	1	0	0	12446	835	29	2	429	2	PPP1R2	3	195256617	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	7809206	195256617	2765813	129	31113											
LPHN3	23284	broad.mit.edu	37	chr4	62935975	62935975	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctataaccataacgagacCgccctagagaaaaagattct	16	7	8	10	2	1	3	0	0	1	3	1	5	1	3	3	1	2	1	3	1	6	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:62935975C>T	ENST00000514591.1	+	25	4088	c.3759C>T	c.(3757-3759)acC>acT	p.T1253T	LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000507625.1_Silent_p.T1312T|LPHN3_ENST00000506746.1_Silent_p.T1355T|LPHN3_ENST00000512091.1_3'UTR|LPHN3_ENST00000514996.1_Silent_p.T1287T|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000506720.1_Silent_p.T1364T|LPHN3_ENST00000508946.1_Silent_p.T1296T|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000545650.1_Silent_p.T1253T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1231					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATAACGAGACCGCCCTAGAGA	0.458													5	5					0	0	0	0	T	62935975	C	T	62935975	2	4	178	1	0	0	0	0	0	0	0	1	8981	639	23	1		1	LPHN3	4	62935975	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08		62935975	128218301	130	31114											
EPHA5	2044	broad.mit.edu	37	chr4	66467879	66467879	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtcccgcagggtaaatttGagttctatgaagattctgga	11	12	11	7	1	2	3	0	2	2	1	3	4	3	4	1	2	0	3	1	2	4	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:66467879G>C	ENST00000273854.3	-	3	990	c.390C>G	c.(388-390)ctC>ctG	p.L130L	EPHA5_ENST00000354839.4_Silent_p.L130L|EPHA5_ENST00000432638.2_Silent_p.L130L|EPHA5_ENST00000511294.1_Silent_p.L130L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	130					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGGTAAATTTGAGTTCTATGA	0.428										TSP Lung(17;0.13)			52	29					0	0	0	0	C	66467879	G	C	66467879	2	2	178	1	0	0	0	0	0	0	0	1	5208	1277	45	2		2	EPHA5	4	66467879	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3531904	66467879	124686397	131	31115											
C4orf40	401137	broad.mit.edu	37	chr4	71024438	71024438	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggggcccctgttgcagctGagcctgctgcagaggcacct	6	7	14	14	0	0	2	0	1	0	1	0	2	0	2	4	3	5	6	4	3	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:71024438G>C	ENST00000344526.5	+	3	658	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	C4orf40_ENST00000502294.1_Missense_Mutation_p.E157Q|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	157	Ala-rich.					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						TGTTGCAGCTGAGCCTGCTGC	0.642													43	11					0	0	0	0	C	71024438	G	C	71024438	3	2	178	1	0	0	0	0	1	0	0	0	2290	1291	45	2	479	2	C4orf40	4	71024438	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	4556559	71024438	120129838	132	31116											
SLC4A4	8671	broad.mit.edu	37	chr4	72429528	72429529	+	Frame_Shift_Ins	INS	-	-	A																															gtctgactgcccatactcagINSaaaaagttccaagtattaaa																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:72429528_72429529insA	ENST00000340595.3	+	21	3182_3183	c.2986_2987insA	c.(2986-2988)aaafs	p.K996fs	SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000264485.5_Frame_Shift_Ins_p.K1040fs|SLC4A4_ENST00000351898.6_Frame_Shift_Ins_p.K956fs	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	1040						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCCATACTCAGAAAAAGTTCCA	0.381													69	174	---	---	---	---					A	72429529	-	A	72429528	7	5	178	1	0	1	1	0	0	0	0	0	14744	943	33	0	3329	0	SLC4A4	4	72429528	Frame_Shift_Ins	INS	-	TCGA-CR-6472-01A-11D-1870-08	1405090	72429528	118724748	133	31117											
ADH1C	126	broad.mit.edu	37	chr4	100261734	100261734	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgaagcctaactacatacctCcaaaaatagctcctttccac	14	10	3	14	0	0	1	0	1	0	0	3	1	3	1	5	0	5	1	5	0	7	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:100261734C>T	ENST00000515683.1	-	0	1313					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTACATACCTCCAAAAATAGC	0.413													92	72					0	0	0	0	T	100261734	C	T	100261734	1	4	178	0	1	0	0	0	0	0	0	0	309	855	30	2		2	ADH1C	4	100261734	RNA	SNP	C	TCGA-CR-6472-01A-11D-1870-08	27832206	100261734	90892542	134	31118											
NUDT6	11162	broad.mit.edu	37	chr4	123814217	123814217	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcttaagcattcttcctgGcaaaaatttatggtgaatga	13	14	7	7	0	2	2	0	2	2	0	3	2	3	2	1	2	1	2	1	2	5	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:123814217G>A	ENST00000304430.5	-	5	750	c.717C>T	c.(715-717)tgC>tgT	p.C239C	NUDT6_ENST00000339154.2_Silent_p.C70C|NUDT6_ENST00000502270.1_Silent_p.C70C|FGF2_ENST00000264498.3_3'UTR	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	239	Nudix hydrolase.					mitochondrion|nucleus	growth factor activity|hydrolase activity			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						ATTCTTCCTGGCAAAAATTTA	0.443													4	81					0	0	0	0	A	123814217	G	A	123814217	2	1	178	1	0	0	0	0	0	0	0	1	10814	1195	42	4		4	NUDT6	4	123814217	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	23552483	123814217	67340059	135	31119											
GAB1	2549	broad.mit.edu	37	chr4	144354740	144354740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacccaggcagattcatcctCtgctactctacctcctccat	8	11	4	18	0	3	1	1	0	2	1	6	1	6	1	5	1	3	2	5	1	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:144354740C>T	ENST00000262995.4	+	3	891	c.464C>T	c.(463-465)tCt>tTt	p.S155F	GAB1_ENST00000505913.1_Missense_Mutation_p.S52F|GAB1_ENST00000262994.4_Missense_Mutation_p.S155F	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	155					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GATTCATCCTCTGCTACTCTA	0.483													46	28					0	0	0	0	T	144354740	C	T	144354740	3	4	178	1	0	0	0	0	1	0	0	0	6196	913	32	2	474	2	GAB1	4	144354740	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	20540523	144354740	46799536	136	31120											
ARHGAP10	79658	broad.mit.edu	37	chr4	148867785	148867785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatgtaaaaacatgcaatGaggtggacctggagaattct	15	10	11	5	0	1	3	0	1	1	2	1	5	1	4	1	3	2	2	1	3	6	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:148867785G>A	ENST00000336498.3	+	15	1560	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.E90K	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	441	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AACATGCAATGAGGTGGACCT	0.383													12	5					0	0	0	0	A	148867785	G	A	148867785	3	1	178	1	0	0	0	0	1	0	0	0	864	1291	45	2	1379	2	ARHGAP10	4	148867785	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	4513045	148867785	42286491	137	31121											
MND1	84057	broad.mit.edu	37	chr4	154315459	154315459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagcctacagaaaagcattGagaaagctaaaattggccga	18	6	9	8	1	0	2	0	1	0	2	0	4	0	2	2	1	4	2	2	1	7	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:154315459G>A	ENST00000240488.3	+	5	411	c.322G>A	c.(322-324)Gag>Aag	p.E108K	MND1_ENST00000504860.1_Missense_Mutation_p.E93K	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	108					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					GAAAAGCATTGAGAAAGCTAA	0.353													14	13					0	0	0	0	A	154315459	G	A	154315459	3	1	178	1	0	0	0	0	1	0	0	0	9745	1291	45	2	340	2	MND1	4	154315459	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	5447674	154315459	36838817	138	31122											
MND1	84057	broad.mit.edu	37	chr4	154318395	154318395	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgaaccaggctagcaaaaGagctttcttcacttcgagac	13	8	9	11	2	2	2	1	0	1	2	3	4	2	2	1	1	4	3	1	1	4	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:154318395G>C	ENST00000240488.3	+	6	465	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	MND1_ENST00000504860.1_Missense_Mutation_p.E111Q	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	126					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					GCTAGCAAAAGAGCTTTCTTC	0.358													6	3					0	0	0	0	C	154318395	G	C	154318395	3	2	178	1	0	0	0	0	1	0	0	0	9745	943	33	2	398	2	MND1	4	154318395	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2936	154318395	36835881	139	31123											
LRAT	9227	broad.mit.edu	37	chr4	155665794	155665794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcgttattgtcaaagtgGccagcatccgcgtggacaca	9	9	13	10	3	1	0	1	0	0	0	2	1	2	1	2	3	1	2	2	3	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:155665794G>T	ENST00000336356.3	+	2	569	c.316G>T	c.(316-318)Gcc>Tcc	p.A106S	LRAT_ENST00000507827.1_Missense_Mutation_p.A106S	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	106					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TGTCAAAGTGGCCAGCATCCG	0.572													9	4					5.4927e-09	5.70117e-09	1	0	T	155665794	G	T	155665794	3	4	178	1	0	0	0	0	1	0	0	0	8994	1203	42	4	318	4	LRAT	4	155665794	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1347399	155665794	35488482	140	31124											
NAF1	92345	broad.mit.edu	37	chr4	164050069	164050069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaatagtaaggtccaaaatGagaattactatctccagaag	17	10	7	7	0	1	2	0	1	1	2	3	3	2	2	2	1	1	1	2	1	9	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:164050069G>A	ENST00000274054.2	-	8	1658	c.1465C>T	c.(1465-1467)Cat>Tat	p.H489Y	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	489					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GGTCCAAAATGAGAATTACTA	0.433													17	12					0	0	0	0	A	164050069	G	A	164050069	3	1	178	1	0	0	0	0	1	0	0	0	10210	1290	45	2	164	2	NAF1	4	164050069	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	8384275	164050069	27104207	141	31125											
NEK1	4750	broad.mit.edu	37	chr4	170428916	170428916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcagcctcttcacttccttCttgtccttcagaatgattag	7	16	6	12	0	5	2	3	1	2	1	7	2	7	2	3	0	1	0	3	0	2	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:170428916C>G	ENST00000439128.2	-	20	2417	c.1777G>C	c.(1777-1779)Gaa>Caa	p.E593Q	NEK1_ENST00000510533.1_Missense_Mutation_p.E549Q|NEK1_ENST00000512193.1_Missense_Mutation_p.E524Q|NEK1_ENST00000511633.1_Missense_Mutation_p.E577Q|NEK1_ENST00000507142.1_Missense_Mutation_p.E621Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	593					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCACTTCCTTCTTGTCCTTCA	0.358													30	22					0	0	0	0	G	170428916	C	G	170428916	3	3	178	1	0	0	0	0	1	0	0	0	10391	922	32	2	2059	2	NEK1	4	170428916	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	6378847	170428916	20725360	142	31126											
ADAMTS16	170690	broad.mit.edu	37	chr5	5186271	5186271	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccatagaaatgaagaactGaacgtggagaccttggtggt	13	9	12	7	1	0	5	0	2	0	3	1	6	1	5	2	3	2	0	2	3	5	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:5186271G>C	ENST00000274181.7	+	5	1008	c.870G>C	c.(868-870)ctG>ctC	p.L290L	ADAMTS16_ENST00000511368.1_Silent_p.L290L	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	290	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATGAAGAACTGAACGTGGAGA	0.473													38	51					0	0	0	0	C	5186271	G	C	5186271	2	2	178	1	0	0	0	0	0	0	0	1	261	1277	45	2		2	ADAMTS16	5	5186271	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08		5186271	175728989	143	31127											
BASP1	10409	broad.mit.edu	37	chr5	17275436	17275436	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggaagaggaggggaccccGaaggagagtgagccccaggc	12	1	18	10	2	0	3	0	1	0	2	0	8	0	6	4	6	1	0	4	6	2	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:17275436G>A	ENST00000322611.3	+	2	371	c.111G>A	c.(109-111)ccG>ccA	p.P37P		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	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	0.647													11	12					0	0	0	0	A	17275436	G	A	17275436	2	1	178	1	0	0	0	0	0	0	0	1	1321	1045	37	1		1	BASP1	5	17275436	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	12089165	17275436	163639824	144	31128											
NPR3	4883	broad.mit.edu	37	chr5	32712159	32712159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgggactgggaggcggcttCtgccgccgggcactcgcttc	4	7	16	14	5	1	0	0	0	1	0	3	2	1	2	2	5	1	3	2	5	0	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:32712159C>T	ENST00000265074.8	+	1	620	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Silent_p.L93L|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	93					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGGCGGCTTCTGCCGCCGGG	0.677													17	41					0	0	0	0	T	32712159	C	T	32712159	2	4	178	1	0	0	0	0	0	0	0	1	10667	912	32	2		2	NPR3	5	32712159	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	15436723	32712159	148203101	145	31129											
ZNF131	7690	broad.mit.edu	37	chr5	43161724	43161724	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaggtagaaggtattgaaAttgtggaacttcagctgtca	14	11	11	5	0	2	2	2	1	0	1	2	3	2	3	0	3	3	3	0	3	6	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:43161724A>G	ENST00000399534.1	+	5	789	c.745A>G	c.(745-747)Att>Gtt	p.I249V	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Intron|ZNF131_ENST00000509634.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.I249V|ZNF131_ENST00000505606.2_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	249						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AGGTATTGAAATTGTGGAACT	0.403													23	49					0	0	0	0	G	43161724	A	G	43161724	3	3	178	1	0	0	0	0	1	0	0	0	17816	116	4	5		5	ZNF131	5	43161724	Missense_Mutation	SNP	A	TCGA-CR-6472-01A-11D-1870-08	10449565	43161724	137753536	146	31130											
PDE8B	8622	broad.mit.edu	37	chr5	76715710	76715710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaacaagccaatggcagctGaggtgagtactgctttccat	11	10	10	10	0	1	2	1	2	0	0	2	2	2	2	2	2	5	4	2	2	4	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:76715710G>A	ENST00000264917.5	+	19	2293	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	PDE8B_ENST00000342343.4_Missense_Mutation_p.E730K|PDE8B_ENST00000340978.3_Missense_Mutation_p.E703K|PDE8B_ENST00000346042.3_Missense_Mutation_p.E653K|PDE8B_ENST00000505283.1_Missense_Mutation_p.E215K|PDE8B_ENST00000333194.4_Missense_Mutation_p.E695K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	750	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AATGGCAGCTGAGGTGAGTAC	0.448													17	33					0	0	0	0	A	76715710	G	A	76715710	3	1	178	1	0	0	0	0	1	0	0	0	11725	1291	45	2	2322	2	PDE8B	5	76715710	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	33553986	76715710	104199550	147	31131											
RHOBTB3	22836	broad.mit.edu	37	chr5	95087996	95087996	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacaagtgaaaaaatgaaGaaaagaaaaatgagcaactc	25	4	8	4	0	0	6	0	3	0	3	1	6	0	6	0	0	2	1	0	0	11	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:95087996G>A	ENST00000379982.3	+	5	1132	c.624G>A	c.(622-624)aaG>aaA	p.K208K	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	208					retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAAAAATGAAGAAAAGAAAAA	0.313													46	96					0	0	0	0	A	95087996	G	A	95087996	2	1	178	1	0	0	0	0	0	0	0	1	13418	933	33	2		2	RHOBTB3	5	95087996	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	18372286	95087996	85827264	148	31132											
PJA2	9867	broad.mit.edu	37	chr5	108691708	108691708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagcaactcctagtccatCtgcaaagccatcaaataggc	13	9	6	13	0	3	0	2	0	1	0	5	0	5	0	3	1	4	2	3	1	5	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:108691708C>T	ENST00000361189.2	-	7	1911	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	PJA2_ENST00000361557.3_Missense_Mutation_p.D558N	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	558	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		CCTAGTCCATCTGCAAAGCCA	0.383													40	77					0	0	0	0	T	108691708	C	T	108691708	3	4	178	1	0	0	0	0	1	0	0	0	12034	913	32	2	470	2	PJA2	5	108691708	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	13603712	108691708	72223552	149	31133											
APC	324	broad.mit.edu	37	chr5	112137026	112137026	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacatgatgctgagcggcaGaatgaaggtcaaggagtggg	12	7	16	6	1	2	4	2	3	0	1	2	5	2	5	0	4	2	2	0	4	3	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:112137026G>C	ENST00000457016.1	+	8	1160	c.780G>C	c.(778-780)caG>caC	p.Q260H	APC_ENST00000508376.2_Missense_Mutation_p.Q260H|APC_ENST00000257430.4_Missense_Mutation_p.Q260H			P25054	APC_HUMAN	adenomatous polyposis coli	260	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTGAGCGGCAGAATGAAGGTC	0.363		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			15	35					0	0	0	0	C	112137026	G	C	112137026	3	2	178	1	0	0	0	0	1	0	0	0	764	933	33	2	806	2	APC	5	112137026	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3445318	112137026	68778234	150	31134											
FAM170A	340069	broad.mit.edu	37	chr5	118968548	118968548	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttctacctccgaatactgctCctgcgtttcttcttcacgca	6	15	5	15	3	4	0	1	0	3	0	6	1	6	0	3	0	4	3	3	0	3	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:118968548C>G	ENST00000515256.1	+	2	348	c.176C>G	c.(175-177)tCc>tGc	p.S59C				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	59						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GAATACTGCTCCTGCGTTTCT	0.547													33	61					0	0	0	0	G	118968548	C	G	118968548	3	3	178	1	0	0	0	0	1	0	0	0	5530	855	30	2	182	2	FAM170A	5	118968548	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	6831522	118968548	61946712	151	31135											
ALDH7A1	501	broad.mit.edu	37	chr5	125918566	125918566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaaggcaagataggtcctCcaatcatccttgataaacca	15	8	7	11	0	1	3	1	1	0	2	4	3	4	3	4	2	1	1	4	2	6	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:125918566C>T	ENST00000409134.3	-	5	713	c.494G>A	c.(493-495)gGa>gAa	p.G165E	ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.G192E|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.G165E	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	165					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	GATAGGTCCTCCAATCATCCT	0.388													30	27					0	0	0	0	T	125918566	C	T	125918566	3	4	178	1	0	0	0	0	1	0	0	0	504	855	30	2	1181	2	ALDH7A1	5	125918566	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	6950018	125918566	54996694	152	31136											
AFF4	27125	broad.mit.edu	37	chr5	132232368	132232368	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctctcactttcatctgaatCtgaggatgaggtatctgttt	8	16	9	8	0	5	3	2	3	4	0	6	4	5	4	0	2	0	3	0	2	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:132232368C>G	ENST00000265343.5	-	11	2333	c.1954G>C	c.(1954-1956)Gat>Cat	p.D652H	AFF4_ENST00000378595.3_Missense_Mutation_p.D652H	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	652					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATCTGAATCTGAGGATGAG	0.438													38	73					0	0	0	0	G	132232368	C	G	132232368	3	3	178	1	0	0	0	0	1	0	0	0	359	913	32	2	1581	2	AFF4	5	132232368	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	6313802	132232368	48682892	153	31137											
PCDHA5	56143	broad.mit.edu	37	chr5	140201501	140201501	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaccttcgttggccgcatCgcgcaggacctagggctgga	7	7	15	12	4	0	0	0	0	0	0	2	3	0	3	3	5	1	4	3	5	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140201501C>T	ENST00000529859.1	+	1	141	c.141C>T	c.(139-141)atC>atT	p.I47I	PCDHA5_ENST00000529619.1_Silent_p.I47I|PCDHA5_ENST00000378126.3_Silent_p.I47I|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCCGCATCGCGCAGGACC	0.647													46	56					0	0	0	0	T	140201501	C	T	140201501	2	4	178	1	0	0	0	0	0	0	0	1	11598	874	31	1		1	PCDHA5	5	140201501	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	7969133	140201501	40713759	154	31138											
PCDHA5	56143	broad.mit.edu	37	chr5	140201580	140201580	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagggccgcggggaccttCtggaggtaaatctgcagaat	10	7	14	10	2	2	1	0	0	2	1	2	3	2	3	3	5	1	2	3	5	4	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140201580C>T	ENST00000529859.1	+	1	220	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L	PCDHA5_ENST00000529619.1_Silent_p.L74L|PCDHA5_ENST00000378126.3_Silent_p.L74L|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1												p.Q49fs*50(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGGACCTTCTGGAGGTAAA	0.647													67	130					0	0	0	0	T	140201580	C	T	140201580	2	4	178	1	0	0	0	0	0	0	0	1	11598	912	32	2		2	PCDHA5	5	140201580	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	79	140201580	40713680	155	31139											
PCDHA6	56142	broad.mit.edu	37	chr5	140209500	140209500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctacaacgcgtggctttcGtatgagctgcagcccccggc	6	8	13	14	4	0	1	0	1	0	0	1	1	0	1	2	3	5	5	2	3	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140209500G>A	ENST00000529310.1	+	1	1938	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.S608S(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAGCTGC	0.657													21	46					0	0	0	0	A	140209500	G	A	140209500	2	1	178	1	0	0	0	0	0	0	0	1	11599	1132	40	1		1	PCDHA6	5	140209500	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	7920	140209500	40705760	156	31140											
PCDHB6	56130	broad.mit.edu	37	chr5	140532108	140532108	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgtgtctgacgggaggctCagaaacaaatgagttcaagt	12	9	14	6	1	3	3	2	2	1	1	3	4	3	4	0	3	1	2	0	3	3	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140532108C>G	ENST00000231136.1	+	1	2270	c.2270C>G	c.(2269-2271)tCa>tGa	p.S757*	PCDHB6_ENST00000543635.1_Nonsense_Mutation_p.S621*	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		757					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGGAGGCTCAGAAACAAAT	0.562													67	101					0	0	0	0	G	140532108	C	G	140532108	4	3	178	1	0	0	0	0	0	1	0	0	11617	838	29	2	2272	2	PCDHB6	5	140532108	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	322608	140532108	40383152	157	31141											
PCDHGA1	56114	broad.mit.edu	37	chr5	140710402	140710402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgtaggcaacatcgccaagGacctagggctgcaaccccag	11	5	11	14	2	0	0	0	0	0	0	2	1	0	1	4	3	3	4	4	3	5	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140710402G>A	ENST00000517417.1	+	1	151	c.151G>A	c.(151-153)Gac>Aac	p.D51N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D51N	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCGCCAAGGACCTAGGGCT	0.557													31	89					0	0	0	0	A	140710402	G	A	140710402	3	1	178	1	0	0	0	0	1	0	0	0	11621	1174	41	2	153	2	PCDHGA1	5	140710402	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	178294	140710402	40204858	158	31142											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711728	140711728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatcacttactccctaataGaggacactatccagggggca	14	8	8	11	0	1	1	1	0	0	1	3	2	3	2	2	3	1	1	2	3	5	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140711728G>A	ENST00000517417.1	+	1	1477	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E493K	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCTAATAGAGGACACTAT	0.537													53	135					0	0	0	0	A	140711728	G	A	140711728	3	1	178	1	0	0	0	0	1	0	0	0	11621	943	33	2	1479	2	PCDHGA1	5	140711728	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1326	140711728	40203532	159	31143											
PCDHGA9	56107	broad.mit.edu	37	chr5	140782700	140782700	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagccccgggagctggcgGagcgccgagtccgcatcgtc	5	5	17	14	6	0	0	0	0	0	0	3	4	1	3	4	4	3	2	4	4	0	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140782700G>T	ENST00000573521.1	+	1	181	c.181G>T	c.(181-183)Gag>Tag	p.E61*	PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGCGGAGCGCCGAGT	0.607													53	86					7.41606e-26	8.11252e-26	1	0	T	140782700	G	T	140782700	4	4	178	1	0	0	0	0	0	1	0	0	11632	1175	41	2	183	2	PCDHGA9	5	140782700	Nonsense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	70972	140782700	40132560	160	31144											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812070	140812070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagctggctccccgctccGcagagcccggctacctggtg	4	7	14	16	3	0	1	0	0	0	1	2	2	2	2	5	4	3	5	5	4	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140812070G>A	ENST00000252085.3	+	1	1886	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T	PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.A582T(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCGCTCCGCAGAGCCCGG	0.682													58	105					0	0	0	0	A	140812070	G	A	140812070	3	1	178	1	0	0	0	0	1	0	0	0	11624	1087	38	1	1746	1	PCDHGA12	5	140812070	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	29370	140812070	40103190	161	31145											
ANXA6	309	broad.mit.edu	37	chr5	150512081	150512081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtccccagacagctcccctCggatgctggcttcaatcggc	7	8	10	16	2	1	1	1	0	0	1	5	2	3	2	4	3	2	3	4	3	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:150512081C>T	ENST00000354546.5	-	10	919	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.R199Q|ANXA6_ENST00000356496.5_Missense_Mutation_p.R231Q|ANXA6_ENST00000377751.5_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	231						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	p.R231Q(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCTCCCCTCGGATGCTGGC	0.552													7	22					0	0	0	0	T	150512081	C	T	150512081	3	4	178	1	0	0	0	0	1	0	0	0	721	884	31	1	1397	1	ANXA6	5	150512081	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	9700011	150512081	30403179	162	31146											
N4BP3	23138	broad.mit.edu	37	chr5	177547335	177547335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccctgagccccgggcccCgggccagccaggcccgggca	4	1	15	21	4	0	1	0	1	0	0	0	1	0	1	9	4	2	1	9	4	0	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:177547335C>T	ENST00000274605.5	+	3	846	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	163				R -> Q (in Ref. 3; AAH53323).		cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCGGGCCCCGGGCCAGCCA	0.706													6	9					0	0	0	0	T	177547335	C	T	177547335	3	4	178	1	0	0	0	0	1	0	0	0	10183	643	23	1	493	1	N4BP3	5	177547335	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	27035254	177547335	3367925	163	31147											
JARID2	3720	broad.mit.edu	37	chr6	15410497	15410497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagggattaggaccagcatCagaacagtcagagaatgaaa	18	6	11	6	0	2	3	2	1	0	2	2	6	2	5	1	2	2	1	1	2	5	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:15410497C>T	ENST00000341776.2	+	3	468	c.224C>T	c.(223-225)tCa>tTa	p.S75L	JARID2_ENST00000541660.1_Missense_Mutation_p.S37L|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	75					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGACCAGCATCAGAACAGTCA	0.463													114	27					0	0	0	0	T	15410497	C	T	15410497	3	4	178	1	0	0	0	0	1	0	0	0	7998	838	29	2	234	2	JARID2	6	15410497	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08		15410497	155704570	164	31148											
LRRC16A	55604	broad.mit.edu	37	chr6	25450578	25450578	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtttcaggtggattttctCagatgtatgcctgtgtttgt	6	19	11	5	0	2	1	2	0	1	1	3	2	2	2	1	2	1	3	1	2	1	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:25450578C>T	ENST00000329474.6	+	7	849	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	161					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGATTTTCTCAGATGTATGC	0.378													17	14					0	0	0	0	T	25450578	C	T	25450578	4	4	178	1	0	0	0	0	0	1	0	0	9035	827	29	2	507	2	LRRC16A	6	25450578	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	10040081	25450578	145664489	165	31149											
OR11A1	26531	broad.mit.edu	37	chr6	29394966	29394966	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatctaccacaaatccagaGagccaggttgtgaccaccag	13	6	8	14	0	1	2	0	1	1	1	2	3	2	2	6	1	2	1	6	1	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:29394966G>C	ENST00000377149.1	-	5	925	c.453C>G	c.(451-453)ctC>ctG	p.L151L	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Silent_p.L151L|OR11A1_ENST00000377147.2_Silent_p.L151L			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAAATCCAGAGAGCCAGGTTG	0.547													17	19					0	0	0	0	C	29394966	G	C	29394966	2	2	178	1	0	0	0	0	0	0	0	1	10995	929	33	2		2	OR11A1	6	29394966	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3944388	29394966	141720101	166	31150											
TAP1	6890	broad.mit.edu	37	chr6	32815407	32815407	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccataggcaatattttcttGaagacttcttccaaatacct	12	14	5	10	0	2	2	0	1	2	1	3	2	3	2	3	1	1	1	3	1	6	8			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:32815407G>A	ENST00000354258.4	-	9	2127	c.1966C>T	c.(1966-1968)Caa>Taa	p.Q656*	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Nonsense_Mutation_p.Q395*	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	656	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						ATATTTTCTTGAAGACTTCTT	0.468													26	15					0	0	0	0	A	32815407	G	A	32815407	4	1	178	1	0	0	0	0	0	1	0	0	15641	1299	45	2	472	2	TAP1	6	32815407	Nonsense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3420441	32815407	138299660	167	31151											
ITPR3	3710	broad.mit.edu	37	chr6	33660555	33660555	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctcctgttcttcttcatCgtcatcatcattgtgctgaa	7	16	6	12	1	6	1	4	1	2	0	8	2	7	1	2	0	1	2	2	0	1	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:33660555C>T	ENST00000374316.5	+	56	8569	c.7509C>T	c.(7507-7509)atC>atT	p.I2503I	ITPR3_ENST00000605930.1_Silent_p.I2503I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2503					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCTTCTTCATCGTCATCATCA	0.537													32	35					0	0	0	0	T	33660555	C	T	33660555	2	4	178	1	0	0	0	0	0	0	0	1	7975	874	31	1		1	ITPR3	6	33660555	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	845148	33660555	137454512	168	31152											
KCNK5	8645	broad.mit.edu	37	chr6	39159321	39159321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacgtccttggaggctgtgCtccccttcacctgcagggcc	4	10	12	15	1	1	1	1	1	0	0	3	2	3	2	5	3	2	3	5	3	0	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:39159321C>T	ENST00000359534.3	-	5	1183	c.845G>A	c.(844-846)aGc>aAc	p.S282N		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	282					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGAGGCTGTGCTCCCCTTCAC	0.547													71	48					0	0	0	0	T	39159321	C	T	39159321	3	4	178	1	0	0	0	0	1	0	0	0	8122	797	28	4	658	4	KCNK5	6	39159321	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	5498766	39159321	131955746	169	31153											
DAAM2	23500	broad.mit.edu	37	chr6	39846340	39846340	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggacaagtggcagagctGgtagcccagctcagtgaact	10	6	15	10	1	1	2	1	1	0	1	1	3	1	3	1	4	4	4	1	4	3	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:39846340G>C	ENST00000538976.1	+	13	1703	c.1521G>C	c.(1519-1521)ctG>ctC	p.L507L	DAAM2_ENST00000398904.2_Silent_p.L507L|DAAM2_ENST00000274867.4_Silent_p.L507L	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	507					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGGCAGAGCTGGTAGCCCAGC	0.582													3	1					0	0	0	0	C	39846340	G	C	39846340	2	2	178	1	0	0	0	0	0	0	0	1	4249	1335	47	4		4	DAAM2	6	39846340	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	687019	39846340	131268727	170	31154											
GCM1	8521	broad.mit.edu	37	chr6	52993467	52993467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagtagactccggaggcaGaaggaggaagcaggtctcca	13	4	15	9	1	1	3	0	0	1	3	3	6	2	6	2	5	1	3	2	5	3	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:52993467G>A	ENST00000259803.7	-	6	1059	c.848C>T	c.(847-849)tCt>tTt	p.S283F		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	283						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TCCGGAGGCAGAAGGAGGAAG	0.473													22	48					0	0	0	0	A	52993467	G	A	52993467	3	1	178	1	0	0	0	0	1	0	0	0	6346	942	33	2	466	2	GCM1	6	52993467	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	13147127	52993467	118121600	171	31155											
IBTK	25998	broad.mit.edu	37	chr6	82927733	82927733	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atctccctctaaatccttctCcatcttgcgtaacaaataga	12	13	3	13	1	4	1	0	0	4	1	7	1	5	1	3	0	2	1	3	0	5	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:82927733C>G	ENST00000306270.7	-	10	1919	c.1370G>C	c.(1369-1371)gGa>gCa	p.G457A	IBTK_ENST00000503631.1_Missense_Mutation_p.G457A|IBTK_ENST00000510291.1_Missense_Mutation_p.G457A	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	457					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AAATCCTTCTCCATCTTGCGT	0.353													21	32					0	0	0	0	G	82927733	C	G	82927733	3	3	178	1	0	0	0	0	1	0	0	0	7529	855	30	2	2771	2	IBTK	6	82927733	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	29934266	82927733	88187334	172	31156											
DOPEY1	23033	broad.mit.edu	37	chr6	83830475	83830475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggatctaaagccttttcGcattttaatcagtttactgg	10	15	8	8	1	2	0	1	0	1	0	3	1	2	1	1	2	2	3	1	2	4	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:83830475G>A	ENST00000349129.2	+	10	1324	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H	DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.R346H|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R346H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	355					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGCCTTTTCGCATTTTAATC	0.368													12	45					0	0	0	0	A	83830475	G	A	83830475	3	1	178	1	0	0	0	0	1	0	0	0	4743	1087	38	1	1094	1	DOPEY1	6	83830475	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	902742	83830475	87284592	173	31157											
SLC22A16	85413	broad.mit.edu	37	chr6	110778028	110778028	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaccgtaacataatctttCtggcctgaagacaacagggc	12	9	9	11	1	2	2	0	1	2	1	2	2	2	2	2	2	3	2	2	2	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:110778028C>G	ENST00000368919.3	-	2	312	c.246G>C	c.(244-246)caG>caC	p.Q82H	SLC22A16_ENST00000456137.2_Missense_Mutation_p.Q82H|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.Q82H|SLC22A16_ENST00000330550.4_Intron	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	82					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CATAATCTTTCTGGCCTGAAG	0.488													64	128					0	0	0	0	G	110778028	C	G	110778028	3	3	178	1	0	0	0	0	1	0	0	0	14535	912	32	2	1515	2	SLC22A16	6	110778028	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	26947553	110778028	60337039	174	31158											
GTF3C6	112495	broad.mit.edu	37	chr6	111288781	111288781	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaacatgatttgtaactttCtacatgaaaatgaagacgaa	17	11	6	7	1	1	4	0	3	1	1	1	5	1	4	1	0	3	1	1	0	7	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:111288781C>G	ENST00000329970.7	+	6	640	c.430C>G	c.(430-432)Cta>Gta	p.L144V	GTF3C6_ENST00000480191.1_3'UTR	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	144						transcription factor TFIIIC complex	DNA binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TTGTAACTTTCTACATGAAAA	0.393													62	121					0	0	0	0	G	111288781	C	G	111288781	3	3	178	1	0	0	0	0	1	0	0	0	6927	912	32	2	452	2	GTF3C6	6	111288781	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	510753	111288781	59826286	175	31159											
TSPYL1	7259	broad.mit.edu	37	chr6	116599934	116599934	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccccctgcgccatataattgGagtagaaagagacaccactc	13	7	8	13	1	0	2	0	0	0	2	1	4	0	3	4	1	1	1	4	1	4	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:116599934G>C	ENST00000368608.3	-	1	1132	c.1060C>G	c.(1060-1062)Cca>Gca	p.P354A	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	354					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CATATAATTGGAGTAGAAAGA	0.473													43	98					0	0	0	0	C	116599934	G	C	116599934	3	2	178	1	0	0	0	0	1	0	0	0	16754	1174	41	2	257	2	TSPYL1	6	116599934	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	5311153	116599934	54515133	176	31160											
GPRC6A	222545	broad.mit.edu	37	chr6	117150061	117150061	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catgaatagcaaacaaacctCcaattatgatatgtcccgga	16	9	6	10	1	0	2	0	2	0	0	2	3	2	3	3	1	3	1	3	1	7	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:117150061C>G	ENST00000310357.3	-	1	137	c.116G>C	c.(115-117)gGa>gCa	p.G39A	GPRC6A_ENST00000368549.3_Missense_Mutation_p.G39A|GPRC6A_ENST00000530250.1_Missense_Mutation_p.G39A	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	39					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAACAAACCTCCAATTATGAT	0.433													22	33					0	0	0	0	G	117150061	C	G	117150061	3	3	178	1	0	0	0	0	1	0	0	0	6778	855	30	2	2688	2	GPRC6A	6	117150061	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	550127	117150061	53965006	177	31161											
TRDN	10345	broad.mit.edu	37	chr6	123869710	123869710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtggtttcctccatagcatCacgtaccagttttaaaggat	10	13	8	10	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	4	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:123869710C>T	ENST00000334268.4	-	3	597	c.280G>A	c.(280-282)Gat>Aat	p.D94N	TRDN_ENST00000546248.1_Missense_Mutation_p.D94N|TRDN_ENST00000398178.3_Missense_Mutation_p.D94N|TRDN_ENST00000542443.1_Missense_Mutation_p.D94N			Q13061	TRDN_HUMAN	triadin	94					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCCATAGCATCACGTACCAGT	0.353													4	4					0	0	0	0	T	123869710	C	T	123869710	3	4	178	1	0	0	0	0	1	0	0	0	16563	826	29	2	2065	2	TRDN	6	123869710	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	6719649	123869710	47245357	178	31162											
ENPP3	5169	broad.mit.edu	37	chr6	131999049	131999049	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgaagaacctgattcctCtggacatgcaggtggaccag	10	11	11	9	0	1	3	0	2	1	1	2	5	2	5	3	3	2	1	3	3	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:131999049C>G	ENST00000414305.1	+	12	1308	c.980C>G	c.(979-981)tCt>tGt	p.S327C	ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.S327C|ENPP3_ENST00000358229.5_Missense_Mutation_p.S327C			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	327	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCTGATTCCTCTGGACATGCA	0.348													18	40					0	0	0	0	G	131999049	C	G	131999049	3	3	178	1	0	0	0	0	1	0	0	0	5169	913	32	2	1022	2	ENPP3	6	131999049	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	8129339	131999049	39116018	179	31163											
BCLAF1	9774	broad.mit.edu	37	chr6	136599330	136599330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggtggtgtagcaataggtGaaggactatggggtgatcta	11	11	16	3	0	1	2	0	2	1	0	1	3	1	3	0	6	1	2	0	6	7	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:136599330G>A	ENST00000531224.1	-	4	941	c.689C>T	c.(688-690)tCa>tTa	p.S230L	BCLAF1_ENST00000530767.1_Missense_Mutation_p.S230L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S230L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S228L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S228L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S228L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	230					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGCAATAGGTGAAGGACTATG	0.433													41	125					0	0	0	0	A	136599330	G	A	136599330	3	1	178	1	0	0	0	0	1	0	0	0	1387	1294	45	2	2113	2	BCLAF1	6	136599330	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	4600281	136599330	34515737	180	31164											
SLC35D3	340146	broad.mit.edu	37	chr6	137245833	137245833	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaggagttacccagtccttGagaaggaggtgcatgtacgt	10	9	14	8	2	0	1	0	1	0	1	1	5	1	3	2	3	3	3	2	3	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:137245833G>C	ENST00000331858.4	+	2	1415	c.1250G>C	c.(1249-1251)tGa>tCa	p.*417S		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	0					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCCAGTCCTTGAGAAGGAGGT	0.408													25	34					0	0	0	0	C	137245833	G	C	137245833	4	2	178	1	0	0	0	0	0	0	0	0	14671	1285	45	2	1256	2	SLC35D3	6	137245833	Nonstop_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	646503	137245833	33869234	181	31165											
PERP	64065	broad.mit.edu	37	chr6	138428475	138428475	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccaggccgcagcggatCatgttgacgggcggcgcggg	6	4	19	12	6	1	1	1	1	0	0	1	2	1	2	2	6	1	2	2	6	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:138428475C>A	ENST00000421351.3	-	1	173	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	1					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CGCAGCGGATCATGTTGACGG	0.756													20	35					2.39187e-15	2.53708e-15	1	0	A	138428475	C	A	138428475	1	1	178	1	0	0	0	0	0	0	0	0	11803	826	29	2		2	PERP	6	138428475	Translation_Start_Site	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1182642	138428475	32686592	182	31166											
SHPRH	257218	broad.mit.edu	37	chr6	146264599	146264599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaggtggtacatcactatCagcatgatttagagattcag	14	11	10	6	0	3	3	3	1	0	2	3	4	3	3	0	2	2	2	0	2	4	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:146264599C>T	ENST00000367503.3	-	9	2316	c.1918G>A	c.(1918-1920)Gat>Aat	p.D640N	SHPRH_ENST00000367505.2_Missense_Mutation_p.D640N|SHPRH_ENST00000275233.7_Missense_Mutation_p.D640N|SHPRH_ENST00000438092.2_Missense_Mutation_p.D640N	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	640					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.D640N(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACATCACTATCAGCATGATTT	0.393													42	90					0	0	0	0	T	146264599	C	T	146264599	3	4	178	1	0	0	0	0	1	0	0	0	14379	826	29	2	3265	2	SHPRH	6	146264599	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	7836124	146264599	24850468	183	31167											
NUP43	348995	broad.mit.edu	37	chr6	150052833	150052833	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttcagagcaggtaaaaaGatgttctgggttggatgggt	11	12	14	4	0	3	2	1	0	2	2	3	3	3	3	0	4	1	4	0	4	3	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:150052833G>C	ENST00000340413.2	-	7	905	c.829C>G	c.(829-831)Ctt>Gtt	p.L277V	NUP43_ENST00000367404.4_Missense_Mutation_p.L181V|NUP43_ENST00000460354.2_Missense_Mutation_p.L277V|NUP43_ENST00000367403.3_3'UTR	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	277					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CAGGTAAAAAGATGTTCTGGG	0.423													15	27					0	0	0	0	C	150052833	G	C	150052833	3	2	178	1	0	0	0	0	1	0	0	0	10836	942	33	2	321	2	NUP43	6	150052833	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3788234	150052833	21062234	184	31168											
PLEKHG1	57480	broad.mit.edu	37	chr6	151152198	151152198	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccctttgggtcatccataGagttgactattgatgacata	10	14	8	9	0	1	4	1	3	0	1	3	4	3	4	2	1	0	1	2	1	3	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:151152198G>C	ENST00000367328.1	+	16	2263	c.1951G>C	c.(1951-1953)Gag>Cag	p.E651Q	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.E651Q	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	651					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GTCATCCATAGAGTTGACTAT	0.453													12	18					0	0	0	0	C	151152198	G	C	151152198	3	2	178	1	0	0	0	0	1	0	0	0	12140	943	33	2	2005	2	PLEKHG1	6	151152198	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1099365	151152198	19962869	185	31169											
SYNE1	23345	broad.mit.edu	37	chr6	152644705	152644705	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatcctggagcatgctcagGgtttgctgccgcagcatgcc	6	9	12	14	1	1	0	1	0	0	0	2	1	2	1	4	2	6	6	4	2	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:152644705G>C	ENST00000367255.5	-	82	16426	c.15825C>G	c.(15823-15825)acC>acG	p.T5275T	SYNE1_ENST00000265368.4_Silent_p.T5275T|SYNE1_ENST00000423061.1_Silent_p.T5204T|SYNE1_ENST00000448038.1_Silent_p.T5204T|SYNE1_ENST00000341594.5_Silent_p.T4968T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5275					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATGCTCAGGGTTTGCTGCC	0.567										HNSCC(10;0.0054)			26	46					0	0	0	0	C	152644705	G	C	152644705	2	2	178	1	0	0	0	0	0	0	0	1	15536	1219	43	4		4	SYNE1	6	152644705	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1492507	152644705	18470362	186	31170											
C6orf120	387263	broad.mit.edu	37	chr6	170102948	170102948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggagagcgagttcgagatGaaggtgtactacgacggcac	11	7	15	8	4	0	3	0	1	0	2	1	7	0	3	0	3	3	3	0	3	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:170102948G>A	ENST00000332290.2	+	1	692	c.393G>A	c.(391-393)atG>atA	p.M131I	C6orf120_ENST00000439249.1_Missense_Mutation_p.M150I	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	131						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		AGTTCGAGATGAAGGTGTACT	0.711													10	24					0	0	0	0	A	170102948	G	A	170102948	3	1	178	1	0	0	0	0	1	0	0	0	2345	1290	45	2	395	2	C6orf120	6	170102948	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	17458243	170102948	1012119	187	31171											
FAM120B	84498	broad.mit.edu	37	chr6	170626882	170626882	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatatgttcttcatcccctCagggctagctgtgtttacac	9	14	7	11	0	3	0	2	0	1	0	4	0	4	0	2	1	2	4	2	1	4	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:170626882C>G	ENST00000476287.1	+	2	512	c.404C>G	c.(403-405)tCa>tGa	p.S135*	FAM120B_ENST00000540480.1_Nonsense_Mutation_p.S147*|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Nonsense_Mutation_p.S158*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	135					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TTCATCCCCTCAGGGCTAGCT	0.458													36	67					0	0	0	0	G	170626882	C	G	170626882	4	3	178	1	0	0	0	0	0	1	0	0	5458	838	29	2	406	2	FAM120B	6	170626882	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	523934	170626882	488185	188	31172											
SDK1	221935	broad.mit.edu	37	chr7	4247913	4247913	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggggcgcacccaccaGgccggtaggaggaaggcggg	9	1	19	12	3	0	0	0	0	0	0	0	2	0	2	3	8	1	3	3	8	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:4247913G>A	ENST00000404826.2	+	37	5536	c.5397G>A	c.(5395-5397)caG>caA	p.Q1799Q	SDK1_ENST00000389531.3_Silent_p.Q1779Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1799					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCACCCACCAGGCCGGTAGGA	0.627													8	26					0	0	0	0	A	4247913	G	A	4247913	2	1	178	1	0	0	0	0	0	0	0	1	14055	991	35	4		4	SDK1	7	4247913	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08		4247913	154890750	189	31173											
RADIL	55698	broad.mit.edu	37	chr7	4862113	4862113	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctcgatggagttagacatCcagaaaagaatgggctgcaa	15	7	12	7	1	0	3	0	0	0	3	2	5	1	4	1	2	2	4	1	2	5	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:4862113C>T	ENST00000399583.3	-	6	1714	c.1527G>A	c.(1525-1527)tgG>tgA	p.W509*	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000538469.1_Nonsense_Mutation_p.W269*	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	509	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGTTAGACATCCAGAAAAGAA	0.537													12	42					0	0	0	0	T	4862113	C	T	4862113	4	4	178	1	0	0	0	0	0	1	0	0	13079	856	30	2	1740	2	RADIL	7	4862113	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	614200	4862113	154276550	190	31174											
AHR	196	broad.mit.edu	37	chr7	17379231	17379231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttaagtaagtctcccttCataccttcagattatcaaca	12	15	3	11	0	5	1	3	0	2	1	6	1	5	1	2	0	2	1	2	0	5	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:17379231C>G	ENST00000242057.4	+	10	2425	c.1782C>G	c.(1780-1782)ttC>ttG	p.F594L		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	594					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AGTCTCCCTTCATACCTTCAG	0.403													51	79					0	0	0	0	G	17379231	C	G	17379231	3	3	178	1	0	0	0	0	1	0	0	0	416	825	29	2	1820	2	AHR	7	17379231	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	12517118	17379231	141759432	191	31175											
DPY19L1	23333	broad.mit.edu	37	chr7	34997615	34997615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaaataattaccaaagaaGaagcataataagaagttaat	22	8	5	6	0	0	3	0	0	0	3	0	3	0	3	2	0	2	2	2	0	10	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:34997615G>A	ENST00000310974.4	-	11	1085	c.941C>T	c.(940-942)tCt>tTt	p.S314F	DPY19L1_ENST00000462134.2_Intron	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	314						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TACCAAAGAAGAAGCATAATA	0.289													4	17					0	0	0	0	A	34997615	G	A	34997615	3	1	178	1	0	0	0	0	1	0	0	0	4776	942	33	2	1134	2	DPY19L1	7	34997615	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	17618384	34997615	124141048	192	31176											
NPC1L1	29881	broad.mit.edu	37	chr7	44555448	44555448	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagaccaagccatgcagcagGcccagcagagtgatcaggag	14	3	13	11	0	1	3	1	1	0	2	1	4	1	4	3	2	4	3	3	2	2	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:44555448G>A	ENST00000289547.4	-	19	3886	c.3831C>T	c.(3829-3831)ggC>ggT	p.G1277G	NPC1L1_ENST00000546276.1_Silent_p.G1204G|NPC1L1_ENST00000381160.3_Silent_p.G1250G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1277					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CATGCAGCAGGCCCAGCAGAG	0.577													15	30					0	0	0	0	A	44555448	G	A	44555448	2	1	178	1	0	0	0	0	0	0	0	1	10641	1190	42	4		4	NPC1L1	7	44555448	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	9557833	44555448	114583215	193	31177											
COBL	23242	broad.mit.edu	37	chr7	51096582	51096582	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtgaggactcaccaagttCcccagctcgtcaatcttaat	10	10	8	13	2	3	1	2	1	1	0	5	2	4	2	3	1	1	2	3	1	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:51096582C>A	ENST00000395542.2	-	12	2641	c.2457G>T	c.(2455-2457)ggG>ggT	p.G819G	COBL_ENST00000265136.7_Silent_p.G737G			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	737										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCACCAAGTTCCCCAGCTCGT	0.507													20	41					0.00188189	0.00190001	1	0	A	51096582	C	A	51096582	2	1	178	1	0	0	0	0	0	0	0	1	3683	842	30	2		2	COBL	7	51096582	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	6541134	51096582	108042081	194	31178											
VKORC1L1	154807	broad.mit.edu	37	chr7	65419170	65419170	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactttgtgctgaaggagttCtgcatcatctgcatcgtcac	8	14	9	10	1	4	1	2	1	2	0	5	2	4	2	0	1	4	4	0	1	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:65419170C>G	ENST00000360768.3	+	3	519	c.414C>G	c.(412-414)ttC>ttG	p.F138L	VKORC1L1_ENST00000434382.2_Missense_Mutation_p.L102V	NM_173517.3	NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	138						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	TGAAGGAGTTCTGCATCATCT	0.517													35	39					0	0	0	0	G	65419170	C	G	65419170	3	3	178	1	0	0	0	0	1	0	0	0	17269	912	32	2	424	2	VKORC1L1	7	65419170	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	14322588	65419170	93719493	195	31179											
GUSB	2990	broad.mit.edu	37	chr7	65439419	65439419	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgcagagaaacgttgttGaagaactgcctgcgggccag	11	8	14	8	2	0	4	0	2	0	2	0	5	0	4	2	1	5	3	2	1	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:65439419G>A	ENST00000304895.4	-	8	1384	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	GUSB_ENST00000421103.1_Silent_p.F272F|GUSB_ENST00000345660.6_Silent_p.F367F	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	418					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AAACGTTGTTGAAGAACTGCC	0.632													35	47					0	0	0	0	A	65439419	G	A	65439419	2	1	178	1	0	0	0	0	0	0	0	1	6952	1281	45	2		2	GUSB	7	65439419	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	20249	65439419	93699244	196	31180											
STYXL1	51657	broad.mit.edu	37	chr7	75630281	75630281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcggctgataccttgggtgGaaaagatcagaatgacagag	13	8	14	6	1	1	5	1	2	0	3	1	6	1	6	1	3	2	1	1	3	4	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:75630281G>T	ENST00000451157.1	-	8	906	c.737C>A	c.(736-738)tCc>tAc	p.S246Y	STYXL1_ENST00000359697.3_Missense_Mutation_p.S246Y|STYXL1_ENST00000340062.5_Missense_Mutation_p.S150Y|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Missense_Mutation_p.S246Y|STYXL1_ENST00000248600.1_Missense_Mutation_p.S246Y			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	246	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						ACCTTGGGTGGAAAAGATCAG	0.567													33	103					1.30998e-17	1.40133e-17	1	0	T	75630281	G	T	75630281	3	4	178	1	0	0	0	0	1	0	0	0	15451	1174	41	2	212	2	STYXL1	7	75630281	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	10190862	75630281	83508382	197	31181											
PEX1	5189	broad.mit.edu	37	chr7	92131290	92131290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatctctagccacaaacccgCcagtttctttagctacatgc	11	11	5	14	1	2	0	0	0	2	0	3	0	2	0	3	0	5	2	3	0	5	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:92131290C>G	ENST00000248633.4	-	14	2425	c.2330G>C	c.(2329-2331)gGc>gCc	p.G777A	PEX1_ENST00000438045.1_Missense_Mutation_p.G455A|PEX1_ENST00000541751.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.G720A	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	777					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CACAAACCCGCCAGTTTCTTT	0.378													121	191					0	0	0	0	G	92131290	C	G	92131290	3	3	178	1	0	0	0	0	1	0	0	0	11807	739	26	4	1565	4	PEX1	7	92131290	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	16501009	92131290	67007373	198	31182											
SGCE	8910	broad.mit.edu	37	chr7	94230021	94230021	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaccagtgccactgccGagggcacagccagtgtaatt	12	6	12	11	1	0	0	0	0	0	0	0	2	0	1	4	2	3	2	4	2	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:94230021G>T	ENST00000415788.2	-	8	1169	c.1082C>A	c.(1081-1083)tCg>tAg	p.S361*	SGCE_ENST00000447873.1_Nonsense_Mutation_p.S325*|SGCE_ENST00000445866.2_Nonsense_Mutation_p.S325*|SGCE_ENST00000437425.2_Nonsense_Mutation_p.S284*|SGCE_ENST00000428696.2_Nonsense_Mutation_p.S325*|SGCE_ENST00000265735.7_Nonsense_Mutation_p.S325*			O43556	SGCE_HUMAN	sarcoglycan, epsilon	325					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCCACTGCCGAGGGCACAGC	0.433													19	31					4.35082e-09	4.5309e-09	1	0	T	94230021	G	T	94230021	4	4	178	1	0	0	0	0	0	1	0	0	14289	1059	37	3	511	3	SGCE	7	94230021	Nonsense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2098731	94230021	64908642	199	31183											
ZNF3	7551	broad.mit.edu	37	chr7	99674971	99674971	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagatacgagatcagcctGagtttccatggaagggcaag	12	8	13	8	1	1	3	1	2	0	2	2	6	2	4	2	2	2	2	2	2	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:99674971G>C	ENST00000303915.6	-	2	977	c.10C>G	c.(10-12)Cag>Gag	p.Q4E	ZNF3_ENST00000413658.2_Missense_Mutation_p.Q4E|ZNF3_ENST00000424697.1_Missense_Mutation_p.Q4E|ZNF3_ENST00000299667.4_Missense_Mutation_p.Q4E			P17036	ZNF3_HUMAN	zinc finger protein 3	4					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGATCAGCCTGAGTTTCCATG	0.488													50	88					0	0	0	0	C	99674971	G	C	99674971	3	2	178	1	0	0	0	0	1	0	0	0	17924	1299	45	2	1475	2	ZNF3	7	99674971	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	5444950	99674971	59463692	200	31184											
C7orf43	55262	broad.mit.edu	37	chr7	99754719	99754719	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctcccaggacctcaccaGacattgtccaccagcagcac	10	5	6	20	0	1	1	1	0	0	1	3	2	3	2	7	1	2	2	7	1	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:99754719G>A	ENST00000316937.3	-	5	1028	c.843C>T	c.(841-843)gtC>gtT	p.V281V	C7orf43_ENST00000457641.1_Silent_p.V12V|C7orf43_ENST00000419841.1_Silent_p.V49V|C7orf43_ENST00000498638.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	281										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACCTCACCAGACATTGTCCA	0.572													21	66					0	0	0	0	A	99754719	G	A	99754719	2	1	178	1	0	0	0	0	0	0	0	1	2416	929	33	2		2	C7orf43	7	99754719	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	79748	99754719	59383944	201	31185											
C7orf43	55262	broad.mit.edu	37	chr7	99755503	99755503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggggcagtctatccagtGaaacggtgagtgggaagatg	10	8	17	6	1	1	3	0	2	1	1	2	4	2	4	1	4	1	1	1	4	3	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:99755503G>A	ENST00000316937.3	-	2	655	c.470C>T	c.(469-471)tCa>tTa	p.S157L	C7orf43_ENST00000457641.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	157										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTATCCAGTGAAACGGTGAG	0.537													11	29					0	0	0	0	A	99755503	G	A	99755503	3	1	178	1	0	0	0	0	1	0	0	0	2416	1294	45	2	1312	2	C7orf43	7	99755503	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	784	99755503	59383160	202	31186											
ACTL6B	51412	broad.mit.edu	37	chr7	100246206	100246211	+	In_Frame_Del	DEL	GATGTC	GATGTC	-																															gcgatcatgtaaggtgggatGatgtcaatggccatctcctg																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:100246206_100246211delGATGTC	ENST00000160382.5	-	7	743_748	c.637_642delGACATC	c.(637-642)del	p.DI213del		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	213					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AAGGTGGGATGATGTCAATGGCCATC	0.597													9	12	---	---	---	---					-	100246211	GATGTC	-	100246206	7	5	178	1	0	1	0	1	0	0	0	0	199	1280	45	0	670	0	ACTL6B	7	100246206	In_Frame_Del	DEL	GATGTC	TCGA-CR-6472-01A-11D-1870-08	490703	100246206	58892457	203	31187											
ACHE	43	broad.mit.edu	37	chr7	100488803	100488803	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcataccggtggcgctgagCaatttggggaggaagcggtt	8	9	17	7	3	0	1	0	1	0	0	0	3	0	3	1	6	4	4	1	6	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:100488803C>T	ENST00000302913.4	-	4	1848	c.1710G>A	c.(1708-1710)ttG>ttA	p.L570L	ACHE_ENST00000428317.1_Silent_p.L570L|ACHE_ENST00000419336.2_Silent_p.L482L|ACHE_ENST00000412389.1_Silent_p.L570L|ACHE_ENST00000411582.1_Silent_p.L570L|ACHE_ENST00000241069.5_Silent_p.L570L	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	570					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	TGGCGCTGAGCAATTTGGGGA	0.701													8	9					0	0	0	0	T	100488803	C	T	100488803	2	4	178	1	0	0	0	0	0	0	0	1	141	709	25	4		4	ACHE	7	100488803	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	242597	100488803	58649860	204	31188											
PRKRIP1	79706	broad.mit.edu	37	chr7	102045060	102045060	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagcaaaaattggatgcaGagtttcagaaaagactggaa	17	8	11	5	0	1	3	1	0	0	3	1	5	1	5	0	2	3	4	0	2	5	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:102045060G>C	ENST00000496391.1	+	8	1632	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	PRKRIP1_ENST00000354783.4_Missense_Mutation_p.E70Q|PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.E108Q|PRKRIP1_ENST00000462601.1_Missense_Mutation_p.E51Q			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	108	Required for RNA-binding (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						ATTGGATGCAGAGTTTCAGAA	0.483											OREG0018229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	102					0	0	0	0	C	102045060	G	C	102045060	3	2	178	1	0	0	0	0	1	0	0	0	12605	943	33	2	336	2	PRKRIP1	7	102045060	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1556257	102045060	57093603	205	31189											
LAMB4	22798	broad.mit.edu	37	chr7	107678026	107678026	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaccttctcgatgtcttctgGaggcacgttttcctcttaaa	8	15	7	11	2	4	0	0	0	4	0	6	2	5	1	2	2	1	2	2	2	3	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:107678026G>C	ENST00000388781.3	-	30	4569	c.4486C>G	c.(4486-4488)Cca>Gca	p.P1496A	LAMB4_ENST00000388780.3_Missense_Mutation_p.P1496A|LAMB4_ENST00000205386.4_Missense_Mutation_p.P1496A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1496	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATGTCTTCTGGAGGCACGTTT	0.388													31	71					0	0	0	0	C	107678026	G	C	107678026	3	2	178	1	0	0	0	0	1	0	0	0	8666	1174	41	2	819	2	LAMB4	7	107678026	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	5632966	107678026	51460637	206	31190											
WNT2	7472	broad.mit.edu	37	chr7	116918349	116918349	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccgggtgacatgggaggTgtcgtagcctctcccacagc	7	8	13	13	2	1	1	0	1	1	0	4	2	2	2	3	3	2	1	3	3	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:116918349T>G	ENST00000265441.3	-	5	1242	c.943A>C	c.(943-945)Acc>Ccc	p.T315P		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	315					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACATGGGAGGTGTCGTAGCCT	0.597													10	34					0	0	0	0	G	116918349	T	G	116918349	3	3	178	1	0	0	0	0	1	0	0	0	17482	1696	59	5	143	5	WNT2	7	116918349	Missense_Mutation	SNP	T	TCGA-CR-6472-01A-11D-1870-08	9240323	116918349	42220314	207	31191											
FSCN3	29999	broad.mit.edu	37	chr7	127240257	127240257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccttctccagcacagggggGatccttctggtcaataacat	9	11	9	12	0	3	0	1	0	2	0	6	1	5	1	3	4	2	1	3	4	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:127240257G>A	ENST00000265825.5	+	6	1520	c.1301G>A	c.(1300-1302)gGa>gAa	p.G434E	FSCN3_ENST00000420086.2_Silent_p.G298G	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	434						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCACAGGGGGGATCCTTCTGG	0.562													21	41					0	0	0	0	A	127240257	G	A	127240257	3	1	178	1	0	0	0	0	1	0	0	0	6117	1174	41	2	1323	2	FSCN3	7	127240257	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	10321908	127240257	31898406	208	31192											
NUP205	23165	broad.mit.edu	37	chr7	135292103	135292103	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagaatctcctcagctggCtgagctatgttaccaggtac	9	10	11	11	1	2	2	1	1	1	1	3	3	2	2	2	2	4	5	2	2	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:135292103C>G	ENST00000285968.6	+	22	3205	c.3179C>G	c.(3178-3180)gCt>gGt	p.A1060G		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1060					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CCTCAGCTGGCTGAGCTATGT	0.498													24	19					0	0	0	0	G	135292103	C	G	135292103	3	3	178	1	0	0	0	0	1	0	0	0	10830	797	28	4	3265	4	NUP205	7	135292103	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	8051846	135292103	23846560	209	31193											
EPHB6	2051	broad.mit.edu	37	chr7	142561964	142561964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctttactaccgtcaggctGaggagcccgacagccctgac	8	7	10	16	2	1	2	1	2	0	0	1	4	1	3	4	2	4	1	4	2	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:142561964G>A	ENST00000392957.2	+	7	1193	c.406G>A	c.(406-408)Gag>Aag	p.E136K	EPHB6_ENST00000442129.1_Missense_Mutation_p.E136K|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	136						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCGTCAGGCTGAGGAGCCCGA	0.622													31	50					0	0	0	0	A	142561964	G	A	142561964	3	1	178	1	0	0	0	0	1	0	0	0	5216	1291	45	2	416	2	EPHB6	7	142561964	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	7269861	142561964	16576699	210	31194											
EPHA1	2041	broad.mit.edu	37	chr7	143104760	143104760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccctgtgccttgcttgtgtCcatcagagtaactgaaagtg	8	13	10	10	0	1	2	1	1	0	1	3	2	3	2	3	0	3	2	3	0	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:143104760C>T	ENST00000275815.3	-	2	180	c.94G>A	c.(94-96)Gac>Aac	p.D32N		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	32						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTGCTTGTGTCCATCAGAGTA	0.562													99	149					0	0	0	0	T	143104760	C	T	143104760	3	4	178	1	0	0	0	0	1	0	0	0	5203	855	30	2	2904	2	EPHA1	7	143104760	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	542796	143104760	16033903	211	31195											
OR2A2	442361	broad.mit.edu	37	chr7	143807003	143807003	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttggcttttgctgttacaGagtgcctgattttggtggtg	5	18	13	5	0	0	2	0	1	0	1	0	2	0	2	1	3	3	3	1	3	1	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:143807003G>C	ENST00000408979.2	+	1	397	c.328G>C	c.(328-330)Gag>Cag	p.E110Q		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGCTGTTACAGAGTGCCTGAT	0.443													57	126					0	0	0	0	C	143807003	G	C	143807003	3	2	178	1	0	0	0	0	1	0	0	0	11048	943	33	2	330	2	OR2A2	7	143807003	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	702243	143807003	15331660	212	31196											
MSRA	4482	broad.mit.edu	37	chr8	10102704	10102704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgcaggaggctatacttCaaatcctacttataaagaag	14	13	7	7	0	1	1	1	0	0	1	2	2	2	2	1	2	3	2	1	2	8	8			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:10102704C>T	ENST00000528246.1	+	4	727	c.104C>T	c.(103-105)tCa>tTa	p.S35L	MSRA_ENST00000441698.2_Intron|MSRA_ENST00000518255.1_Missense_Mutation_p.S101L|MSRA_ENST00000521209.2_Missense_Mutation_p.S35L|MSRA_ENST00000317173.4_Missense_Mutation_p.S101L|MSRA_ENST00000382490.5_Missense_Mutation_p.S58L	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	101					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GGCTATACTTCAAATCCTACT	0.408													34	60					0	0	0	0	T	10102704	C	T	10102704	3	4	178	1	0	0	0	0	1	0	0	0	9957	838	29	2	329	2	MSRA	8	10102704	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08		10102704	136261318	213	31197											
CTSB	1508	broad.mit.edu	37	chr8	11706668	11706668	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagatggcttccacagccccGaaggcctgcaggaacgagcc	10	4	13	14	2	0	1	0	0	0	1	1	5	1	2	5	3	4	2	5	3	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:11706668G>A	ENST00000353047.6	-	5	586	c.333C>T	c.(331-333)ttC>ttT	p.F111F	CTSB_ENST00000531089.1_Silent_p.F111F|CTSB_ENST00000453527.2_Silent_p.F111F|CTSB_ENST00000530640.2_Silent_p.F111F|CTSB_ENST00000533455.1_Silent_p.F111F|CTSB_ENST00000534510.1_Silent_p.F111F|CTSB_ENST00000434271.1_Silent_p.F111F|CTSB_ENST00000415599.2_Intron|CTSB_ENST00000345125.3_Silent_p.F111F|CTSB_ENST00000525076.1_5'UTR	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	111					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCACAGCCCCGAAGGCCTGCA	0.657													7	27					0	0	0	0	A	11706668	G	A	11706668	2	1	178	1	0	0	0	0	0	0	0	1	4062	1049	37	1		1	CTSB	8	11706668	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1603964	11706668	134657354	214	31198											
EPHX2	2053	broad.mit.edu	37	chr8	27394310	27394310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattgttttagggagtggctGaggctgaactggaacagaac	11	10	15	5	0	0	3	0	2	0	1	0	6	0	5	0	4	3	3	0	4	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:27394310G>A	ENST00000521400.1	+	13	1610	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	EPHX2_ENST00000521780.1_Missense_Mutation_p.E328K|EPHX2_ENST00000518379.1_Missense_Mutation_p.E362K|EPHX2_ENST00000517536.1_Missense_Mutation_p.E211K|EPHX2_ENST00000380476.3_Missense_Mutation_p.E341K	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	394	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GGGAGTGGCTGAGGCTGAACT	0.512													30	68					0	0	0	0	A	27394310	G	A	27394310	3	1	178	1	0	0	0	0	1	0	0	0	5218	1291	45	2	1230	2	EPHX2	8	27394310	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	15687642	27394310	118969712	215	31199											
ELP3	55140	broad.mit.edu	37	chr8	27967950	27967950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagacaagacaccgaataGaacaggtacatttttaaaaa	20	8	6	7	1	0	3	0	0	0	3	0	4	0	3	1	1	3	1	1	1	9	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:27967950G>C	ENST00000256398.8	+	6	834	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q	ELP3_ENST00000542181.1_Missense_Mutation_p.E24Q|ELP3_ENST00000380353.4_Missense_Mutation_p.E61Q|ELP3_ENST00000524103.1_Missense_Mutation_p.E81Q|ELP3_ENST00000537665.1_Missense_Mutation_p.E34Q|ELP3_ENST00000521015.1_Missense_Mutation_p.E139Q|ELP3_ENST00000523760.1_3'UTR	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	153					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		ACACCGAATAGAACAGGTACA	0.343													31	59					0	0	0	0	C	27967950	G	C	27967950	3	2	178	1	0	0	0	0	1	0	0	0	5119	943	33	2	479	2	ELP3	8	27967950	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	573640	27967950	118396072	216	31200											
C8orf4	56892	broad.mit.edu	37	chr8	40011187	40011187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttgaaaacacagaccaaGaatcactagaaaggctcttc	16	9	6	10	0	3	4	1	1	2	3	4	4	3	4	1	1	1	1	1	1	6	3	rs10353		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:40011187G>A	ENST00000315792.3	+	1	199	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K		NM_020130.4	NP_064515.1	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	46					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CACAGACCAAGAATCACTAGA	0.488													29	46					0	0	0	0	A	40011187	G	A	40011187	3	1	178	1	0	0	0	0	1	0	0	0	2449	943	33	2	138	2	C8orf4	8	40011187	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	12043237	40011187	106352835	217	31201											
MCM4	4173	broad.mit.edu	37	chr8	48885504	48885504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtcgcactgtactaccaGagcgaggagcaggcagagga	11	5	15	10	2	0	2	0	0	0	2	1	5	0	4	1	4	4	4	1	4	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:48885504G>C	ENST00000262105.2	+	13	2225	c.2016G>C	c.(2014-2016)caG>caC	p.Q672H	MCM4_ENST00000523944.1_Missense_Mutation_p.Q672H	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	672					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.Q672H(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGTACTACCAGAGCGAGGAGC	0.552													14	28					0	0	0	0	C	48885504	G	C	48885504	3	2	178	1	0	0	0	0	1	0	0	0	9458	933	33	2	2066	2	MCM4	8	48885504	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	8874317	48885504	97478518	218	31202											
HEY1	23462	broad.mit.edu	37	chr8	80677568	80677568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggccgacagggaggccactGaggagagcagaggcggcgac	11	1	19	10	3	0	3	0	1	0	2	0	7	0	4	2	6	1	1	2	6	0	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:80677568G>A	ENST00000337919.5	-	5	975	c.782C>T	c.(781-783)tCa>tTa	p.S261L	HEY1_ENST00000523976.1_Missense_Mutation_p.S167L|HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000354724.3_Missense_Mutation_p.S257L	NM_001040708.1	NP_001035798.1	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	257					angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GGAGGCCACTGAGGAGAGCAG	0.652			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	6					0	0	0	0	A	80677568	G	A	80677568	3	1	178	1	0	0	0	0	1	0	0	0	7128	1294	45	2	148	2	HEY1	8	80677568	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	31792064	80677568	65686454	219	31203											
ESRP1	54845	broad.mit.edu	37	chr8	95709092	95709092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cattttagtatgcaaccgagGatggacttatacacacaaat	15	11	7	8	1	0	0	0	0	0	0	0	3	0	2	1	2	3	2	1	2	6	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:95709092G>C	ENST00000433389.2	+	15	2174	c.1984G>C	c.(1984-1986)Gat>Cat	p.D662H	ESRP1_ENST00000423620.2_Intron|ESRP1_ENST00000454170.2_Intron|ESRP1_ENST00000358397.5_Missense_Mutation_p.D658H	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	662					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGCAACCGAGGATGGACTTAT	0.388													3	10					0	0	0	0	C	95709092	G	C	95709092	3	2	178	1	0	0	0	0	1	0	0	0	5296	1174	41	2	2042	2	ESRP1	8	95709092	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	15031524	95709092	50654930	220	31204											
INTS8	55656	broad.mit.edu	37	chr8	95869113	95869113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgttgcttttggatattCatacacacgaagctgggaca	12	12	10	7	1	1	1	1	0	0	1	1	4	1	3	0	2	3	3	0	2	3	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:95869113C>T	ENST00000523731.1	+	15	1994	c.1861C>T	c.(1861-1863)Cat>Tat	p.H621Y	INTS8_ENST00000447247.1_Missense_Mutation_p.H621Y|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	621					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TTTGGATATTCATACACACGA	0.488													51	77					0	0	0	0	T	95869113	C	T	95869113	3	4	178	1	0	0	0	0	1	0	0	0	7837	826	29	2	1919	2	INTS8	8	95869113	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	160021	95869113	50494909	221	31205											
DERL1	79139	broad.mit.edu	37	chr8	124042888	124042888	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatataagaaatataaattGaccaaataaagaaatccagt	22	10	5	4	0	0	4	0	2	0	2	1	4	1	4	2	0	0	0	2	0	10	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:124042888G>C	ENST00000259512.4	-	2	522	c.222C>G	c.(220-222)gtC>gtG	p.V74V	DERL1_ENST00000405944.3_Silent_p.V74V|DERL1_ENST00000419562.2_Intron|RP11-557C18.3_ENST00000521258.1_RNA	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	74					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AATATAAATTGACCAAATAAA	0.363													32	71					0	0	0	0	C	124042888	G	C	124042888	2	2	178	1	0	0	0	0	0	0	0	1	4483	1277	45	2		2	DERL1	8	124042888	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	28173775	124042888	22321134	222	31206											
FER1L6	654463	broad.mit.edu	37	chr8	125078776	125078776	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctaagtattatgcctccctGaagaaagcccagaaggtaga	14	9	9	9	0	1	4	0	1	1	3	2	4	2	4	3	1	2	2	3	1	7	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:125078776G>A	ENST00000522917.1	+	27	3869	c.3663G>A	c.(3661-3663)ctG>ctA	p.L1221L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.L1221L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1221						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGCCTCCCTGAAGAAAGCCC	0.483													9	158					0	0	0	0	A	125078776	G	A	125078776	2	1	178	1	0	0	0	0	0	0	0	1	5860	1277	45	2		2	FER1L6	8	125078776	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1035888	125078776	21285246	223	31207											
PHF20L1	51105	broad.mit.edu	37	chr8	133855066	133855066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaacaagaattccacatGagaagtaaaaacagtttaca	21	7	7	6	0	0	3	0	1	0	3	1	5	1	3	1	0	3	2	1	0	9	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:133855066G>A	ENST00000395386.2	+	19	2993	c.2694G>A	c.(2692-2694)atG>atA	p.M898I	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.M285I|PHF20L1_ENST00000395390.2_Missense_Mutation_p.M873I	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	898							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AATTCCACATGAGAAGTAAAA	0.383													34	78					0	0	0	0	A	133855066	G	A	133855066	3	1	178	1	0	0	0	0	1	0	0	0	11904	1290	45	2	2860	2	PHF20L1	8	133855066	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	8776290	133855066	12508956	224	31208											
PSCA	8000	broad.mit.edu	37	chr8	143763453	143763453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgtgacaccgacttgtGcaacgccagcggggcccatg	7	7	14	13	3	0	1	0	1	0	0	0	2	0	1	3	2	4	2	3	2	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:143763453G>A	ENST00000301258.4	+	3	331	c.248G>A	c.(247-249)tGc>tAc	p.C83Y		NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN	prostate stem cell antigen	83										endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACCGACTTGTGCAACGCCAGC	0.627													14	23					0	0	0	0	A	143763453	G	A	143763453	3	1	178	1	0	0	0	0	1	0	0	0	12724	1319	46	4	258	4	PSCA	8	143763453	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	9908387	143763453	2600569	225	31209											
ZNF707	286075	broad.mit.edu	37	chr8	144776267	144776267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagaagaaccacacgcGcgagaagcccttctgctgcg	11	4	10	16	4	1	3	0	0	1	3	1	4	1	3	4	0	4	1	4	0	3	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:144776267G>A	ENST00000532205.1	+	8	1582	c.683G>A	c.(682-684)cGc>cAc	p.R228H	ZNF707_ENST00000454097.1_Missense_Mutation_p.R228H|ZNF707_ENST00000358656.4_Missense_Mutation_p.R228H|ZNF707_ENST00000532158.1_Missense_Mutation_p.R228H|ZNF707_ENST00000418203.2_Missense_Mutation_p.R228H			Q96C28	ZN707_HUMAN	zinc finger protein 707	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACCACACGCGCGAGAAGCCC	0.667													11	14					0	0	0	0	A	144776267	G	A	144776267	3	1	178	1	0	0	0	0	1	0	0	0	18206	1087	38	1	697	1	ZNF707	8	144776267	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1012814	144776267	1587755	226	31210											
SCRIB	23513	broad.mit.edu	37	chr8	144877604	144877604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgaccttgcctgggccctCagggctcagctcccggtcga	4	9	12	16	2	3	1	2	1	1	0	5	2	4	1	4	3	2	2	4	3	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:144877604C>G	ENST00000356994.2	-	25	3706	c.3700G>C	c.(3700-3702)Gag>Cag	p.E1234Q	SCRIB_ENST00000320476.3_Missense_Mutation_p.E1234Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.E1153Q	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1234					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTGGGCCCTCAGGGCTCAGC	0.677													4	10					0	0	0	0	G	144877604	C	G	144877604	3	3	178	1	0	0	0	0	1	0	0	0	14024	835	29	2	1319	2	SCRIB	8	144877604	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	101337	144877604	1486418	227	31211											
COMMD5	28991	broad.mit.edu	37	chr8	146076069	146076069	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagtcctgcagtctgcgctCacacctcttctccagatctg	6	12	7	16	1	6	1	2	0	4	1	8	1	7	1	3	0	2	2	3	0	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:146076069C>G	ENST00000450361.2	-	2	1076	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	COMMD5_ENST00000305103.3_Missense_Mutation_p.E219Q|COMMD5_ENST00000402718.3_Missense_Mutation_p.E219Q	NM_001081003.1	NP_001074472.1	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	219						nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			AGTCTGCGCTCACACCTCTTC	0.582													10	20					0	0	0	0	G	146076069	C	G	146076069	3	3	178	1	0	0	0	0	1	0	0	0	3749	835	29	2	23	2	COMMD5	8	146076069	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1198465	146076069	287953	228	31212											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777191	18777191	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggggaggaagggcggcccGaaggaggccctgcagaccca	9	1	19	12	3	0	1	0	0	0	1	0	5	0	4	3	7	1	1	3	7	2	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:18777191G>A	ENST00000380548.4	+	19	3303	c.2964G>A	c.(2962-2964)ccG>ccA	p.P988P		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	988						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGGGCGGCCCGAAGGAGGCCC	0.652													12	16					0	0	0	0	A	18777191	G	A	18777191	2	1	178	1	0	0	0	0	0	0	0	1	274	1045	37	1		1	ADAMTSL1	9	18777191	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08		18777191	122436240	229	31213											
TOPORS	10210	broad.mit.edu	37	chr9	32541770	32541770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtatcctcctttacttcaGaatccttatcactgtcactg	8	16	4	13	0	3	1	3	0	0	1	6	1	6	1	3	0	1	1	3	0	4	5	rs142671355		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:32541770G>A	ENST00000360538.2	-	3	2869	c.2753C>T	c.(2752-2754)tCt>tTt	p.S918F	TOPORS_ENST00000379858.1_Missense_Mutation_p.S853F	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	918					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CTTTACTTCAGAATCCTTATC	0.378													65	44					0	0	0	0	A	32541770	G	A	32541770	3	1	178	1	0	0	0	0	1	0	0	0	16465	942	33	2	388	2	TOPORS	9	32541770	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	13764579	32541770	108671661	230	31214											
TAF1L	138474	broad.mit.edu	37	chr9	32630255	32630255	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcgtcactcccagcatCttcctcatcatcttctcctt	5	17	2	17	1	7	0	3	0	4	0	11	0	9	0	3	0	1	1	3	0	0	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:32630255C>A	ENST00000242310.4	-	1	5412	c.5323G>T	c.(5323-5325)Gat>Tat	p.D1775Y		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1775					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCCCAGCATCTTCCTCATCA	0.453													48	47					2.14674e-31	2.36066e-31	1	0	A	32630255	C	A	32630255	3	1	178	1	0	0	0	0	1	0	0	0	15614	913	32	2	161	2	TAF1L	9	32630255	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	88485	32630255	108583176	231	31215											
CCDC107	203260	broad.mit.edu	37	chr9	35660595	35660595	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaacagctggcccagacaGagcagcacctgaacaacctg	14	3	9	15	0	0	3	0	1	0	2	0	3	0	3	3	1	6	3	3	1	3	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:35660595G>C	ENST00000426546.2	+	4	427	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000378407.3_Missense_Mutation_p.E121Q|CCDC107_ENST00000327351.2_Missense_Mutation_p.E121Q|ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.E121Q|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378406.1_Missense_Mutation_p.E121Q|CCDC107_ENST00000421582.2_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	121						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCAGACAGAGCAGCACCT	0.527													23	44					0	0	0	0	C	35660595	G	C	35660595	3	2	178	1	0	0	0	0	1	0	0	0	2767	943	33	2	375	2	CCDC107	9	35660595	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3030340	35660595	105552836	232	31216											
GLIPR2	152007	broad.mit.edu	37	chr9	36162499	36162499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcttcttcgaagaaaacGtcctgccgccgaagaagtaa	13	7	11	10	4	1	2	0	0	1	2	3	4	2	2	3	1	2	2	3	1	6	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:36162499G>A	ENST00000377960.4	+	5	479	c.445G>A	c.(445-447)Gtc>Atc	p.V149I	GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.V123I	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	149				TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).		extracellular region|Golgi membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						CGAAGAAAACGTCCTGCCGCC	0.537													29	22					0	0	0	0	A	36162499	G	A	36162499	3	1	178	1	0	0	0	0	1	0	0	0	6495	1145	40	1	463	1	GLIPR2	9	36162499	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	501904	36162499	105050932	233	31217											
ZNF658	26149	broad.mit.edu	37	chr9	40772752	40772752	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaattctctgatgtgcacaGaggtgtgttctttgggagaa	9	14	13	5	0	2	4	0	2	2	2	3	5	2	4	0	2	1	2	0	2	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:40772752G>C	ENST00000602553.1	-	5	2817	c.2523C>G	c.(2521-2523)ctC>ctG	p.L841L	ZNF658_ENST00000377626.3_Silent_p.L841L|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GATGTGCACAGAGGTGTGTTC	0.433													15	66					0	0	0	0	C	40772752	G	C	40772752	2	2	178	1	0	0	0	0	0	0	0	1	18164	929	33	2		2	ZNF658	9	40772752	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	4610253	40772752	100440679	234	31218											
ZNF169	169841	broad.mit.edu	37	chr9	97062208	97062208	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagatcttcccaagctCatctgcaggaggtgacttcc	10	9	8	14	0	3	2	1	1	2	1	5	3	5	3	2	2	2	2	2	2	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:97062208C>A	ENST00000395395.2	+	5	458	c.368C>A	c.(367-369)tCa>tAa	p.S123*	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	123						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				TTCCCAAGCTCATCTGCAGGA	0.507													27	22					1.12875e-08	1.16774e-08	1	0	A	97062208	C	A	97062208	4	1	178	1	0	0	0	0	0	1	0	0	17837	838	29	2	382	2	ZNF169	9	97062208	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	56289456	97062208	44151223	235	31219											
ZNF462	58499	broad.mit.edu	37	chr9	109687761	109687761	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggtgtcttatgagagctCaagcatcaatggtagaaagt	12	12	12	5	0	3	2	2	1	1	2	3	3	3	2	0	2	2	3	0	2	5	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:109687761C>G	ENST00000277225.5	+	3	1857	c.1568C>G	c.(1567-1569)tCa>tGa	p.S523*	ZNF462_ENST00000457913.1_Nonsense_Mutation_p.S523*			Q96JM2	ZN462_HUMAN	zinc finger protein 462	523					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TATGAGAGCTCAAGCATCAAT	0.532													18	17					0	0	0	0	G	109687761	C	G	109687761	4	3	178	1	0	0	0	0	0	1	0	0	18021	838	29	2	1574	2	ZNF462	9	109687761	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	12625553	109687761	31525670	236	31220											
C5	727	broad.mit.edu	37	chr9	123808549	123808549	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtaactaaattttttatcagGataacttttaatagagattg	15	17	6	3	0	1	1	1	0	0	1	1	3	1	2	0	1	2	1	0	1	7	10			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:123808549G>C	ENST00000223642.1	-	2	207	c.178C>G	c.(178-180)Cct>Gct	p.P60A		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	60					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTTTTATCAGGATAACTTTTA	0.313													30	21					0	0	0	0	C	123808549	G	C	123808549	3	2	178	1	0	0	0	0	1	0	0	0	2301	1174	41	2	5012	2	C5	9	123808549	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	14120788	123808549	17404882	237	31221											
DPP7	29952	broad.mit.edu	37	chr9	140007428	140007428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacggggttggcagggagggGacccaggaagtcagtggggt	8	5	22	6	1	1	0	1	0	0	0	1	4	1	3	1	9	0	2	1	9	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:140007428G>A	ENST00000371579.2	-	7	851	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	283						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GCAGGGAGGGGACCCAGGAAG	0.667													30	12					0	0	0	0	A	140007428	G	A	140007428	3	1	178	1	0	0	0	0	1	0	0	0	4767	1174	41	2	659	2	DPP7	9	140007428	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	16198879	140007428	1206003	238	31222											
ZMYND11	10771	broad.mit.edu	37	chr10	294371	294371	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgtgtcaactcagacaaaGaagttaagtgcctcttcacc	12	10	7	12	1	4	2	3	0	1	2	5	2	5	2	3	0	2	1	3	0	4	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:294371G>A	ENST00000309776.4	+	13	1751	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K	ZMYND11_ENST00000602682.1_Silent_p.K356K|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000381607.4_Silent_p.K347K|ZMYND11_ENST00000545619.1_Silent_p.K321K|ZMYND11_ENST00000558098.2_Silent_p.K441K|ZMYND11_ENST00000381604.4_Silent_p.K401K|ZMYND11_ENST00000403354.1_Silent_p.K361K|ZMYND11_ENST00000381591.1_Silent_p.K441K|ZMYND11_ENST00000509513.2_Silent_p.K440K|ZMYND11_ENST00000397959.3_Silent_p.K356K|ZMYND11_ENST00000381602.4_Silent_p.K401K|ZMYND11_ENST00000397962.3_Silent_p.K441K|ZMYND11_ENST00000402736.1_Silent_p.K410K|ZMYND11_ENST00000381584.1_Silent_p.K424K|ZMYND11_ENST00000535374.1_Silent_p.K236K	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	401					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTCAGACAAAGAAGTTAAGTG	0.488													48	66					0	0	0	0	A	294371	G	A	294371	2	1	178	1	0	0	0	0	0	0	0	1	17801	933	33	2		2	ZMYND11	10	294371	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08		294371	135240376	239	31223											
GDI2	2665	broad.mit.edu	37	chr10	5807996	5807996	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccccatagatgtcattcttCttgcgcttcatttcctcaaa	8	16	4	13	1	5	1	3	0	2	1	7	1	7	1	3	0	1	1	3	0	2	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:5807996C>G	ENST00000380191.4	-	11	1601	c.1311G>C	c.(1309-1311)aaG>aaC	p.K437N	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Missense_Mutation_p.K441N|GDI2_ENST00000380181.3_Missense_Mutation_p.K392N	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	437					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TGTCATTCTTCTTGCGCTTCA	0.338													56	103					0	0	0	0	G	5807996	C	G	5807996	3	3	178	1	0	0	0	0	1	0	0	0	6372	912	32	2	30	2	GDI2	10	5807996	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	5513625	5807996	129726751	240	31224											
PFKFB3	5209	broad.mit.edu	37	chr10	6263358	6263358	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcagtttgccagtgctctGagcaagttcgtggaggagca	8	11	13	9	1	2	1	1	1	2	0	4	3	2	3	1	2	4	5	1	2	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:6263358G>C	ENST00000379775.4	+	9	1176	c.846G>C	c.(844-846)ctG>ctC	p.L282L	PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379785.1_Silent_p.L282L|PFKFB3_ENST00000360521.2_Silent_p.L282L|PFKFB3_ENST00000317350.4_Silent_p.L282L|PFKFB3_ENST00000379789.4_Silent_p.L262L|PFKFB3_ENST00000540253.1_Silent_p.L296L|PFKFB3_ENST00000379782.3_Silent_p.L282L	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	282	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CCAGTGCTCTGAGCAAGTTCG	0.647													14	14					0	0	0	0	C	6263358	G	C	6263358	2	2	178	1	0	0	0	0	0	0	0	1	11834	1277	45	2		2	PFKFB3	10	6263358	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	455362	6263358	129271389	241	31225											
DHTKD1	55526	broad.mit.edu	37	chr10	12155015	12155015	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacagatggtccggaacttCagaaaaccactcattgttgc	13	9	9	10	1	2	3	2	0	0	3	3	4	3	4	2	2	3	1	2	2	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:12155015C>T	ENST00000263035.4	+	13	2333	c.2271C>T	c.(2269-2271)ttC>ttT	p.F757F		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	757					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TCCGGAACTTCAGAAAACCAC	0.478													39	84					0	0	0	0	T	12155015	C	T	12155015	2	4	178	1	0	0	0	0	0	0	0	1	4537	825	29	2		2	DHTKD1	10	12155015	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	5891657	12155015	123379732	242	31226											
ABI1	10006	broad.mit.edu	37	chr10	27048155	27048155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catactgggaaccaggagctGagcccggggctgctgaaaag	11	5	15	10	1	0	2	0	2	0	0	0	4	0	4	2	4	5	3	2	4	4	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:27048155G>A	ENST00000355394.4	-	9	1140	c.917C>T	c.(916-918)tCa>tTa	p.S306L	ABI1_ENST00000376170.4_Missense_Mutation_p.S277L|ABI1_ENST00000359188.4_Missense_Mutation_p.S277L|ABI1_ENST00000376140.3_Missense_Mutation_p.S278L|ABI1_ENST00000376142.2_Missense_Mutation_p.S305L|ABI1_ENST00000376166.1_Missense_Mutation_p.S272L|ABI1_ENST00000376138.3_Missense_Mutation_p.S278L|ABI1_ENST00000376139.2_Missense_Mutation_p.S273L|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376134.3_Missense_Mutation_p.S279L|ABI1_ENST00000376160.1_Missense_Mutation_p.S272L|ABI1_ENST00000346832.5_Missense_Mutation_p.S322L			Q8IZP0	ABI1_HUMAN	abl-interactor 1	305	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCAGGAGCTGAGCCCGGGGC	0.498													28	56					0	0	0	0	A	27048155	G	A	27048155	3	1	178	1	0	0	0	0	1	0	0	0	88	1294	45	2	628	2	ABI1	10	27048155	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	14893140	27048155	108486592	243	31227											
ANKRD26	22852	broad.mit.edu	37	chr10	27326148	27326148	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttttgagccatttcaatCtccttttgtttggaaaggtg	7	19	8	7	0	3	1	1	1	2	0	4	2	3	2	2	2	1	1	2	2	2	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:27326148C>G	ENST00000376087.4	-	23	2829	c.2664G>C	c.(2662-2664)gaG>gaC	p.E888D	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E904D|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E445D	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	887						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CCATTTCAATCTCCTTTTGTT	0.328													34	84					0	0	0	0	G	27326148	C	G	27326148	3	3	178	1	0	0	0	0	1	0	0	0	654	912	32	2	2516	2	ANKRD26	10	27326148	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	277993	27326148	108208599	244	31228											
RET	5979	broad.mit.edu	37	chr10	43619153	43619153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgtgggagatcgtgAccctagggggaaacccctat	8	9	13	11	1	0	2	0	1	0	1	2	4	1	3	4	3	2	1	4	3	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:43619153A>G	ENST00000355710.3	+	17	3068	c.2836A>G	c.(2836-2838)Acc>Gcc	p.T946A	RET_ENST00000340058.5_Missense_Mutation_p.T946A	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	946	Protein kinase.		T -> M (in MEN2B and MTC; familial form).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GGAGATCGTGACCCTAGGGGG	0.612		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				73	104					0	0	0	0	G	43619153	A	G	43619153	3	3	178	1	0	0	0	0	1	0	0	0	13317	275	10	5	2902	5	RET	10	43619153	Missense_Mutation	SNP	A	TCGA-CR-6472-01A-11D-1870-08	16293005	43619153	91915594	245	31229											
STOX1	219736	broad.mit.edu	37	chr10	70645407	70645407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaaaatgaggtaattcctGaagtcttgaggaaaagtcat	16	10	11	4	0	2	4	1	3	1	1	3	6	3	5	1	2	0	1	1	2	6	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:70645407G>A	ENST00000298596.6	+	3	1938	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.E509K|STOX1_ENST00000399169.4_Missense_Mutation_p.E619K|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	619						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GGTAATTCCTGAAGTCTTGAG	0.443													27	80					0	0	0	0	A	70645407	G	A	70645407	3	1	178	1	0	0	0	0	1	0	0	0	15409	1291	45	2	1865	2	STOX1	10	70645407	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	27026254	70645407	64889340	246	31230											
COL13A1	1305	broad.mit.edu	37	chr10	71690269	71690269	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacccagggagcccaggagaGaagggggaaaaaggggagac	15	0	18	8	0	0	2	0	0	0	2	0	7	0	5	2	6	1	0	2	6	3	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:71690269G>C	ENST00000356340.3	+	28	2147	c.1611G>C	c.(1609-1611)gaG>gaC	p.E537D	COL13A1_ENST00000520133.1_Missense_Mutation_p.E486D|COL13A1_ENST00000398968.3_Missense_Mutation_p.E518D|COL13A1_ENST00000398974.3_Missense_Mutation_p.E525D|COL13A1_ENST00000354547.3_Missense_Mutation_p.E515D|COL13A1_ENST00000398973.3_Missense_Mutation_p.E537D|COL13A1_ENST00000357811.3_Missense_Mutation_p.E515D|COL13A1_ENST00000520267.1_Missense_Mutation_p.E480D|COL13A1_ENST00000398978.3_Missense_Mutation_p.E537D|COL13A1_ENST00000398972.3_Missense_Mutation_p.E537D|COL13A1_ENST00000398969.3_Missense_Mutation_p.E480D|COL13A1_ENST00000517713.1_Missense_Mutation_p.E515D|COL13A1_ENST00000398964.3_Missense_Mutation_p.E508D|COL13A1_ENST00000398966.3_Missense_Mutation_p.E515D|COL13A1_ENST00000398971.3_Missense_Mutation_p.E537D|COL13A1_ENST00000522165.1_Missense_Mutation_p.E518D			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	537	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GCCCAGGAGAGAAGGGGGAAA	0.627													13	23					0	0	0	0	C	71690269	G	C	71690269	3	2	178	1	0	0	0	0	1	0	0	0	3700	933	33	2	1725	2	COL13A1	10	71690269	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1044862	71690269	63844478	247	31231											
PPP3CB	5532	broad.mit.edu	37	chr10	75230956	75230956	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaatgcaggtggctctttGaatctatctaactgtgaaag	12	12	9	8	0	3	2	0	2	3	0	3	2	3	2	1	2	2	2	1	2	5	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:75230956G>A	ENST00000360663.5	-	6	792	c.681C>T	c.(679-681)ttC>ttT	p.F227F	PPP3CB_ENST00000394828.2_Silent_p.F227F|PPP3CB_ENST00000394822.2_Silent_p.F245F|PPP3CB_ENST00000545874.1_Silent_p.F141F|PPP3CB_ENST00000495897.1_5'UTR|PPP3CB_ENST00000394829.2_Silent_p.F227F|PPP3CB_ENST00000342558.3_Silent_p.F227F			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	227	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GTGGCTCTTTGAATCTATCTA	0.343													22	53					0	0	0	0	A	75230956	G	A	75230956	2	1	178	1	0	0	0	0	0	0	0	1	12474	1281	45	2		2	PPP3CB	10	75230956	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3540687	75230956	60303791	248	31232											
SEC24C	9632	broad.mit.edu	37	chr10	75525644	75525644	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctatccctgggctcttatGaattcttggccactgtagat	8	14	9	10	0	2	2	0	1	2	1	3	2	3	2	2	2	1	3	2	2	4	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:75525644G>T	ENST00000339365.2	+	11	1615	c.1453G>T	c.(1453-1455)Gaa>Taa	p.E485*	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Nonsense_Mutation_p.E485*|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Nonsense_Mutation_p.E366*|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	485					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GGGCTCTTATGAATTCTTGGC	0.507													73	128					3.54697e-40	3.91411e-40	1	0	T	75525644	G	T	75525644	4	4	178	1	0	0	0	0	0	1	0	0	14083	1291	45	2	1487	2	SEC24C	10	75525644	Nonsense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	294688	75525644	60009103	249	31233											
AP3M1	26985	broad.mit.edu	37	chr10	75897965	75897965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcttatcccggtagataCtgatgaggtagtggtgaggt	10	11	15	5	1	0	5	0	3	0	2	1	5	1	5	1	4	2	3	1	4	4	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:75897965C>T	ENST00000355264.4	-	2	484	c.173G>A	c.(172-174)aGt>aAt	p.S58N	AP3M1_ENST00000372745.1_Missense_Mutation_p.S58N	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	58					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CCGGTAGATACTGATGAGGTA	0.428													30	48					0	0	0	0	T	75897965	C	T	75897965	3	4	178	1	0	0	0	0	1	0	0	0	748	565	20	4	1115	4	AP3M1	10	75897965	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	372321	75897965	59636782	250	31234											
CPEB3	22849	broad.mit.edu	37	chr10	93902855	93902855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacgagaggtccaaacctgcGaaagctggcagtgatctcat	12	8	11	10	2	1	2	1	1	1	1	3	4	2	2	2	2	4	2	2	2	3	1	rs141047227		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:93902855G>A	ENST00000412050.4	-	6	1430	c.1342C>T	c.(1342-1344)Cgc>Tgc	p.R448C	CPEB3_ENST00000265997.4_Missense_Mutation_p.R462C	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	462	RRM 1.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				CCAAACCTGCGAAAGCTGGCA	0.388													27	46					0	0	0	0	A	93902855	G	A	93902855	3	1	178	1	0	0	0	0	1	0	0	0	3832	1058	37	1	732	1	CPEB3	10	93902855	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	18004890	93902855	41631892	251	31235											
RRP12	23223	broad.mit.edu	37	chr10	99120333	99120333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agggggtatctccagctcctCctcctcagcctctttctggt	4	13	9	15	0	4	0	1	0	3	0	8	0	7	0	5	3	2	2	5	3	1	2	rs116818150	by1000genomes	TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:99120333C>T	ENST00000370992.4	-	31	3721	c.3610G>A	c.(3610-3612)Gag>Aag	p.E1204K	RRP12_ENST00000414986.1_Missense_Mutation_p.E1143K|RRP12_ENST00000536831.1_Missense_Mutation_p.E922K|RRP12_ENST00000315563.6_Missense_Mutation_p.E1104K|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1204						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCAGCTCCTCCTCCTCAGCC	0.557													35	55					0	0	0	0	T	99120333	C	T	99120333	3	4	178	1	0	0	0	0	1	0	0	0	13771	864	30	2	299	2	RRP12	10	99120333	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	5217478	99120333	36414414	252	31236											
TAF5	6877	broad.mit.edu	37	chr10	105139422	105139422	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctttggatgacgaggatGaagagggagaaaatgaagaa	17	7	14	3	1	0	6	0	3	0	3	0	10	0	8	1	3	1	0	1	3	6	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:105139422G>T	ENST00000369839.3	+	4	1194	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	TAF5_ENST00000351396.4_Nonsense_Mutation_p.E391*	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	391					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGACGAGGATGAAGAGGGAGA	0.328													11	23					3.27435e-08	3.38188e-08	1	0	T	105139422	G	T	105139422	4	4	178	1	0	0	0	0	0	1	0	0	15619	1291	45	2	1185	2	TAF5	10	105139422	Nonsense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	6019089	105139422	30395325	253	31237											
INPP5F	22876	broad.mit.edu	37	chr10	121541174	121541174	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtggcttattctaattcGgcagaaagcattggtgggca	10	12	13	6	1	1	1	0	0	1	1	2	1	1	1	0	5	1	4	0	5	3	5	rs150684982		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:121541174G>C	ENST00000361976.2	+	3	372	c.206G>C	c.(205-207)cGg>cCg	p.R69P	INPP5F_ENST00000369083.3_Missense_Mutation_p.R69P|INPP5F_ENST00000369081.1_5'UTR	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	69							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATTCTAATTCGGCAGAAAGCA	0.423													15	41					0	0	0	0	C	121541174	G	C	121541174	3	2	178	1	0	0	0	0	1	0	0	0	7811	1116	39	3	216	3	INPP5F	10	121541174	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	16401752	121541174	13993573	254	31238											
JAKMIP3	282973	broad.mit.edu	37	chr10	133930719	133930719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagctacaggctgtgcgtGagacgctgctgcggcagcat	8	7	16	10	3	0	1	0	1	0	1	0	3	0	2	0	3	6	6	0	3	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:133930719G>A	ENST00000298622.4	+	2	412	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGCTGTGCGTGAGACGCTGCT	0.597													14	36					0	0	0	0	A	133930719	G	A	133930719	3	1	178	1	0	0	0	0	1	0	0	0	7995	1291	45	2	280	2	JAKMIP3	10	133930719	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	12389545	133930719	1604028	255	31239											
TALDO1	6888	broad.mit.edu	37	chr11	747535	747535	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtccgcgctggaccagctCaagcagttcaccaccgtggt	8	7	12	14	3	2	0	2	0	0	0	3	2	3	1	4	2	2	4	4	2	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:747535C>G	ENST00000319006.3	+	1	207	c.54C>G	c.(52-54)ctC>ctG	p.L18L	TALDO1_ENST00000528097.1_Silent_p.L18L			P37837	TALDO_HUMAN	transaldolase 1	18					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TGGACCAGCTCAAGCAGTTCA	0.736													5	9					0	0	0	0	G	747535	C	G	747535	2	3	178	1	0	0	0	0	0	0	0	1	15634	813	29	2		2	TALDO1	11	747535	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08		747535	134258981	256	31240											
ZNF214	7761	broad.mit.edu	37	chr11	7022289	7022289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccattgaatctctcagtaGgtcttcttgacatatcaccc	9	15	5	12	0	5	2	2	2	3	0	7	2	6	2	2	1	0	1	2	1	3	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:7022289G>C	ENST00000278314.4	-	3	940	c.625C>G	c.(625-627)Cta>Gta	p.L209V	ZNF214_ENST00000536068.1_Missense_Mutation_p.L209V	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCTCTCAGTAGGTCTTCTTGA	0.398													40	19					0	0	0	0	C	7022289	G	C	7022289	3	2	178	1	0	0	0	0	1	0	0	0	17865	991	35	4	1199	4	ZNF214	11	7022289	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	6274754	7022289	127984227	257	31241											
USP47	55031	broad.mit.edu	37	chr11	11924275	11924275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaataggtgggaatttgaaGaatctgaagaagatccagtg	15	11	12	3	0	1	5	0	2	1	3	2	6	2	6	1	2	0	0	1	2	7	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:11924275G>A	ENST00000339865.5	+	5	1166	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	USP47_ENST00000527733.1_Missense_Mutation_p.E203K|USP47_ENST00000399455.2_Missense_Mutation_p.E223K|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	223					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GGAATTTGAAGAATCTGAAGA	0.259													22	11					0	0	0	0	A	11924275	G	A	11924275	3	1	178	1	0	0	0	0	1	0	0	0	17174	943	33	2	421	2	USP47	11	11924275	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	4901986	11924275	123082241	258	31242											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956206	18956206	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcacaactgcgtttcctgtCagcccgacaagggaaacgat	12	7	10	12	3	1	0	1	0	0	0	2	3	2	1	2	1	5	2	2	1	3	1	rs147529961	byFrequency	TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:18956206C>T	ENST00000302797.3	-	1	350	c.126G>A	c.(124-126)ctG>ctA	p.L42L	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	42					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CGTTTCCTGTCAGCCCGACAA	0.562													54	108					0	0	0	0	T	18956206	C	T	18956206	2	4	178	1	0	0	0	0	0	0	0	1	9836	813	29	2		2	MRGPRX1	11	18956206	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	7031931	18956206	116050310	259	31243											
E2F8	79733	broad.mit.edu	37	chr11	19247323	19247332	+	Frame_Shift_Del	DEL	CTTGAGTTTT	CTTGAGTTTT	-																															tgtggtttggggaaagagcaCttgagttttctttaccagac																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:19247323_19247332delCTTGAGTTTT	ENST00000527884.1	-	11	2205_2214	c.1973_1982delAAAACTCAAG	c.(1972-1983)gtfs	p.ENSS658fs	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Frame_Shift_Del_p.ENSS658fs|E2F8_ENST00000529188.1_5'UTR	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	658					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGAAAGAGCACTTGAGTTTTCTTTACCAGA	0.49													43	69	---	---	---	---					-	19247332	CTTGAGTTTT	-	19247323	7	5	178	1	0	1	0	1	0	0	0	0	4909	565	20	0	633	0	E2F8	11	19247323	Frame_Shift_Del	DEL	CTTGAGTTTT	TCGA-CR-6472-01A-11D-1870-08	291117	19247323	115759193	260	31244											
NELL1	4745	broad.mit.edu	37	chr11	21581825	21581825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgactgtctctgcccctCtgggccctcctgctctggtg	1	14	10	16	0	3	1	0	1	3	0	5	1	4	1	4	2	2	1	4	2	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:21581825C>T	ENST00000298925.5	+	18	2114	c.1961C>T	c.(1960-1962)tCt>tTt	p.S654F	NELL1_ENST00000529218.1_Intron|NELL1_ENST00000325319.5_Missense_Mutation_p.S569F|NELL1_ENST00000532434.1_Missense_Mutation_p.S579F|NELL1_ENST00000357134.5_Missense_Mutation_p.S626F			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	626	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTCTGCCCCTCTGGGCCCTCC	0.537													29	24					0	0	0	0	T	21581825	C	T	21581825	3	4	178	1	0	0	0	0	1	0	0	0	10403	913	32	2	1943	2	NELL1	11	21581825	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	2334502	21581825	113424691	261	31245											
DCDC1	341019	broad.mit.edu	37	chr11	30953466	30953466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcatgggaggactgctcgGaacaagcagtccttgtattg	9	11	12	9	1	1	0	1	0	0	0	3	3	2	3	1	3	3	3	1	3	3	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:30953466G>T	ENST00000597505.1	-	20	2748	c.2749C>A	c.(2749-2751)Ccg>Acg	p.P917T	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_5'UTR|DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	270					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGACTGCTCGGAACAAGCAGT	0.393													16	20					2.62699e-14	2.77244e-14	1	0	T	30953466	G	T	30953466	3	4	178	1	0	0	0	0	1	0	0	0	4316	1189	41	2		2	DCDC1	11	30953466	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	9371641	30953466	104053050	262	31246											
QSER1	79832	broad.mit.edu	37	chr11	32953947	32953947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacggaggattacaacagaaGacctcccaggtctcagtgga	14	6	11	10	1	1	2	1	0	1	2	3	5	2	5	2	4	3	0	2	4	4	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:32953947G>C	ENST00000399302.2	+	4	1091	c.756G>C	c.(754-756)aaG>aaC	p.K252N	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	252	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TACAACAGAAGACCTCCCAGG	0.438													30	46					0	0	0	0	C	32953947	G	C	32953947	3	2	178	1	0	0	0	0	1	0	0	0	12964	933	33	2	762	2	QSER1	11	32953947	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2000481	32953947	102052569	263	31247											
HIPK3	10114	broad.mit.edu	37	chr11	33308711	33308711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattagcaaggctcagtactGaaaatgctgatgaatataac	16	11	8	6	0	1	3	1	3	0	0	1	3	1	3	0	1	4	4	0	1	9	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:33308711G>A	ENST00000303296.4	+	2	1056	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	HIPK3_ENST00000525975.1_Missense_Mutation_p.E251K|HIPK3_ENST00000456517.1_Missense_Mutation_p.E251K|HIPK3_ENST00000379016.3_Missense_Mutation_p.E251K	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	251	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GCTCAGTACTGAAAATGCTGA	0.363													24	30					0	0	0	0	A	33308711	G	A	33308711	3	1	178	1	0	0	0	0	1	0	0	0	7168	1291	45	2	753	2	HIPK3	11	33308711	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	354764	33308711	101697805	264	31248											
OR5D14	219436	broad.mit.edu	37	chr11	55563457	55563457	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggccatgtcacagaggctCtgtgccctgctggtggctgg	4	10	16	11	0	2	1	1	0	1	1	2	1	2	1	2	5	2	3	2	5	0	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:55563457C>T	ENST00000335605.1	+	1	426	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CACAGAGGCTCTGTGCCCTGC	0.517													32	50					0	0	0	0	T	55563457	C	T	55563457	2	4	178	1	0	0	0	0	0	0	0	1	11226	900	32	2		2	OR5D14	11	55563457	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	22254746	55563457	79443059	265	31249											
OR8I2	120586	broad.mit.edu	37	chr11	55860932	55860932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggactgatcacgttaatcaGaatggattctcagcttcaca	12	11	9	9	1	4	2	4	1	1	1	5	4	4	4	0	2	1	2	0	2	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:55860932G>A	ENST00000302124.2	+	1	180	c.149G>A	c.(148-150)aGa>aAa	p.R50K	OR8I2_ENST00000560768.1_Missense_Mutation_p.R50K			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ACGTTAATCAGAATGGATTCT	0.373													95	155					0	0	0	0	A	55860932	G	A	55860932	3	1	178	1	0	0	0	0	1	0	0	0	11311	942	33	2	151	2	OR8I2	11	55860932	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	297475	55860932	79145584	266	31250											
LRRC55	219527	broad.mit.edu	37	chr11	56950027	56950027	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgggggcctggccttcctCagcctggaggctcttgaggg	4	10	16	11	0	2	1	1	1	1	0	3	2	3	2	4	6	1	1	4	6	1	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:56950027C>T	ENST00000497933.1	+	1	807	c.660C>T	c.(658-660)ctC>ctT	p.L220L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	190	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGGCCTTCCTCAGCCTGGAGG	0.652													34	49					0	0	0	0	T	56950027	C	T	56950027	2	4	178	1	0	0	0	0	0	0	0	1	9075	813	29	2		2	LRRC55	11	56950027	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1089095	56950027	78056489	267	31251											
C11orf31	280636	broad.mit.edu	37	chr11	57509396	57509396	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agccccggaggggcagcttcGaggtgacgctgctgcgcccg	5	5	17	14	5	0	1	0	1	0	0	1	3	0	2	3	4	4	4	3	4	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:57509396G>C	ENST00000388857.4	+	2	262	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	C11orf31_ENST00000534355.1_Missense_Mutation_p.E80Q|TMX2-CTNND1_ENST00000528395.1_Intron			Q8IZQ5	SELH_HUMAN	chromosome 11 open reading frame 31	80					cell redox homeostasis		selenium binding										GGGCAGCTTCGAGGTGACGCT	0.677													5	6					0	0	0	0	C	57509396	G	C	57509396	3	2	178	1	0	0	0	0	1	0	0	0	1648	1059	37	3	244	3	C11orf31	11	57509396	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	559369	57509396	77497120	268	31252											
OR5B17	219965	broad.mit.edu	37	chr11	58126450	58126450	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcagagtgatgaggtagatGagggtaaacatgataaagag	16	8	15	2	0	1	7	1	4	0	3	1	7	1	7	0	2	1	2	0	2	5	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:58126450G>A	ENST00000357377.3	-	1	92	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAGGTAGATGAGGGTAAACA	0.443													60	89					0	0	0	0	A	58126450	G	A	58126450	2	1	178	1	0	0	0	0	0	0	0	1	11220	1277	45	2		2	OR5B17	11	58126450	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	617054	58126450	76880066	269	31253											
FAM111A	63901	broad.mit.edu	37	chr11	58920182	58920182	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttcgattaaagtagtGaaacttcttgtacgtctcag	10	16	7	8	2	4	1	1	1	4	0	6	2	4	1	0	0	2	2	0	0	5	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:58920182G>T	ENST00000528737.1	+	5	3859	c.1041G>T	c.(1039-1041)gtG>gtT	p.V347V	FAM111A_ENST00000361723.3_Silent_p.V347V|FAM111A_ENST00000533703.1_Silent_p.V347V|FAM111A_ENST00000531147.1_Silent_p.V347V|FAM111A_ENST00000420244.1_Silent_p.V347V			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	347					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTAAAGTAGTGAAACTTCTTG	0.348													34	53					4.34311e-12	4.56825e-12	1	0	T	58920182	G	T	58920182	2	4	178	1	0	0	0	0	0	0	0	1	5440	1277	45	2		2	FAM111A	11	58920182	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	793732	58920182	76086334	270	31254											
SDHAF2	54949	broad.mit.edu	37	chr11	61205277	61205277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagagcccgcctgctctatGagagcagaaagaggggaatg	14	5	14	8	1	1	4	0	1	1	4	1	6	1	5	2	2	3	2	2	2	4	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:61205277G>A	ENST00000301761.2	+	2	291	c.217G>A	c.(217-219)Gag>Aag	p.E73K	SDHAF2_ENST00000543265.1_Missense_Mutation_p.E73K|RP11-286N22.8_ENST00000544880.1_3'UTR|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.E61K|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000537782.1_Missense_Mutation_p.E73K|SDHAF2_ENST00000534878.1_Missense_Mutation_p.E73K	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2	73					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						CCTGCTCTATGAGAGCAGAAA	0.458													38	77					0	0	0	0	A	61205277	G	A	61205277	3	1	178	1	0	0	0	0	1	0	0	0	14051	1291	45	2	223	2	SDHAF2	11	61205277	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2285095	61205277	73801239	271	31255											
MTA2	9219	broad.mit.edu	37	chr11	62365499	62365499	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcctgttgcttaccctCtactaggcgatctgggatct	5	15	9	12	1	3	0	0	0	3	0	4	2	4	1	2	2	3	2	2	2	3	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:62365499C>A	ENST00000278823.2	-	6	876	c.487G>T	c.(487-489)Gag>Tag	p.E163*	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	163	ELM2.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TGCTTACCCTCTACTAGGCGA	0.498													58	155					7.05995e-25	7.70957e-25	1	0	A	62365499	C	A	62365499	4	1	178	1	0	0	0	0	0	1	0	0	9979	922	32	2	1571	2	MTA2	11	62365499	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1160222	62365499	72641017	272	31256											
MTA2	9219	broad.mit.edu	37	chr11	62365820	62365820	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttttccaggtactggctCaagatatctgtctcattcaa	9	15	6	11	0	4	1	3	0	2	1	7	1	6	1	2	2	1	2	2	2	4	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:62365820C>G	ENST00000278823.2	-	5	740	c.351G>C	c.(349-351)ttG>ttC	p.L117F	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	117	BAH.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGTACTGGCTCAAGATATCTG	0.517													181	348					0	0	0	0	G	62365820	C	G	62365820	3	3	178	1	0	0	0	0	1	0	0	0	9979	825	29	2	1711	2	MTA2	11	62365820	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	321	62365820	72640696	273	31257											
STX5	6811	broad.mit.edu	37	chr11	62575026	62575026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccggttggaggtgacaGactggaagtacttgaggatc	10	8	15	8	1	0	3	0	2	0	1	1	6	0	6	2	5	1	2	2	5	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:62575026G>T	ENST00000294179.3	-	11	1136	c.983C>A	c.(982-984)tCt>tAt	p.S328Y	STX5_ENST00000394690.1_Missense_Mutation_p.S274Y|STX5_ENST00000541317.1_Missense_Mutation_p.S232Y|STX5_ENST00000377897.4_3'UTR	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	328					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GGAGGTGACAGACTGGAAGTA	0.532													14	24					7.93312e-07	8.16683e-07	1	0	T	62575026	G	T	62575026	3	4	178	1	0	0	0	0	1	0	0	0	15438	942	33	2	88	2	STX5	11	62575026	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	209206	62575026	72431490	274	31258											
RTN3	10313	broad.mit.edu	37	chr11	63487851	63487851	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaatgagacagaattctCattaaatgtgacaacatctg	15	14	6	6	0	2	3	1	2	2	2	3	4	2	3	0	0	1	0	0	0	5	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:63487851C>A	ENST00000377819.5	+	3	2031	c.1877C>A	c.(1876-1878)tCa>tAa	p.S626*	RTN3_ENST00000339997.4_Nonsense_Mutation_p.S607*|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Nonsense_Mutation_p.S514*|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	626					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ACAGAATTCTCATTAAATGTG	0.388													40	62					5.59293e-11	5.86325e-11	1	0	A	63487851	C	A	63487851	4	1	178	1	0	0	0	0	0	1	0	0	13812	838	29	2	1887	2	RTN3	11	63487851	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	912825	63487851	71518665	275	31259											
CDC42BPG	55561	broad.mit.edu	37	chr11	64603995	64603995	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacaatgaggccttgtccctCagcatctctgccaggaagag	10	8	11	12	0	2	2	1	1	1	1	4	4	3	3	3	2	2	1	3	2	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:64603995C>G	ENST00000342711.5	-	12	1391	c.1392G>C	c.(1390-1392)ctG>ctC	p.L464L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	464					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCTTGTCCCTCAGCATCTCTG	0.637											OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	37					0	0	0	0	G	64603995	C	G	64603995	2	3	178	1	0	0	0	0	0	0	0	1	3103	813	29	2		2	CDC42BPG	11	64603995	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1116144	64603995	70402521	276	31260											
ATG2A	23130	broad.mit.edu	37	chr11	64662529	64662529	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttgcgcatgcccccgagCaggctggacgtggcctccgt	4	8	15	14	4	0	0	0	0	0	0	1	2	1	1	4	4	3	4	4	4	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:64662529C>G	ENST00000421419.2	-	41	5853	c.5739G>C	c.(5737-5739)ctG>ctC	p.L1913L	ATG2A_ENST00000377264.3_Silent_p.L1911L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1911							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGCCCCCGAGCAGGCTGGACG	0.706													23	47					0	0	0	0	G	64662529	C	G	64662529	2	3	178	1	0	0	0	0	0	0	0	1	1097	697	25	4		4	ATG2A	11	64662529	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	58534	64662529	70343987	277	31261											
TBC1D10C	374403	broad.mit.edu	37	chr11	67177168	67177168	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgggcccggggcccccccatCgaggggccccccaggcccca	4	1	14	22	3	0	0	0	0	0	0	1	1	0	0	9	6	0	0	9	6	0	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:67177168C>G	ENST00000312390.5	+	10	1313	c.1284C>G	c.(1282-1284)atC>atG	p.I428M	TBC1D10C_ENST00000542590.1_Missense_Mutation_p.I428M|TBC1D10C_ENST00000526387.1_3'UTR	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	428	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCCCCCCATCGAGGGGCCCC	0.682													11	25					0	0	0	0	G	67177168	C	G	67177168	3	3	178	1	0	0	0	0	1	0	0	0	15691	874	31	3	1318	3	TBC1D10C	11	67177168	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	2514639	67177168	67829348	278	31262											
TBC1D10C	374403	broad.mit.edu	37	chr11	67177203	67177203	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gccccaacgaggctccacctCcttcctggacacccgcttct	6	8	7	20	2	1	0	0	0	1	0	4	2	4	1	7	2	1	2	7	2	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:67177203C>G	ENST00000312390.5	+	10	1348	c.1319C>G	c.(1318-1320)tCc>tGc	p.S440C	TBC1D10C_ENST00000542590.1_Missense_Mutation_p.S440C|TBC1D10C_ENST00000526387.1_3'UTR	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	440	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCTCCACCTCCTTCCTGGAC	0.657													19	22					0	0	0	0	G	67177203	C	G	67177203	3	3	178	1	0	0	0	0	1	0	0	0	15691	855	30	2	1353	2	TBC1D10C	11	67177203	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	35	67177203	67829313	279	31263											
GAL	51083	broad.mit.edu	37	chr11	68456340	68456340	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttgacaggtccatacctGaaaacaatatcatgcgcaca	14	9	7	11	1	1	2	1	2	0	0	2	2	2	2	2	1	3	2	2	1	5	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:68456340G>C	ENST00000265643.3	+	5	505	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	83					growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		GTCCATACCTGAAAACAATAT	0.418													5	28					0	0	0	0	C	68456340	G	C	68456340	3	2	178	1	0	0	0	0	1	0	0	0	6245	1291	45	2	261	2	GAL	11	68456340	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1279137	68456340	66550176	280	31264											
CPT1A	1374	broad.mit.edu	37	chr11	68542817	68542817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccactgcagcctggtgggGtacggaatgttcggattgat	7	11	14	9	2	0	1	0	1	0	0	2	3	1	3	2	5	3	3	2	5	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:68542817G>A	ENST00000265641.5	-	13	1696	c.1542C>T	c.(1540-1542)taC>taT	p.Y514Y	CPT1A_ENST00000540367.1_Silent_p.Y514Y|CPT1A_ENST00000539743.1_Silent_p.Y514Y|CPT1A_ENST00000376618.2_Silent_p.Y514Y	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	514					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCCTGGTGGGGTACGGAATGT	0.502													44	75					0	0	0	0	A	68542817	G	A	68542817	2	1	178	1	0	0	0	0	0	0	0	1	3861	1256	44	4		4	CPT1A	11	68542817	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	86477	68542817	66463699	281	31265											
FADD	8772	broad.mit.edu	37	chr11	70049837	70049837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcggcggccggggccgCgcctggggaagaaggtgggc	4	2	25	10	5	0	1	0	0	0	1	0	2	0	2	3	10	0	0	3	10	2	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:70049837C>T	ENST00000301838.4	+	1	569	c.272C>T	c.(271-273)gCg>gTg	p.A91V		NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	91					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			gccggggccgcgcctggggaa	0.791													3	12					0	0	0	0	T	70049837	C	T	70049837	3	4	178	1	0	0	0	0	1	0	0	0	5405	768	27	1	274	1	FADD	11	70049837	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1507020	70049837	64956679	282	31266											
PHOX2A	401	broad.mit.edu	37	chr11	71952253	71952253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctccttgagctgcgCgctggtgaacgtggtgcgga	5	9	15	12	4	0	2	0	2	0	0	2	3	2	3	2	3	5	3	2	3	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:71952253C>T	ENST00000298231.5	-	2	469	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PHOX2A_ENST00000544057.1_5'UTR	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	100					noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TTGAGCTGCGCGCTGGTGAAC	0.637													15	23					0	0	0	0	T	71952253	C	T	71952253	3	4	178	1	0	0	0	0	1	0	0	0	11930	768	27	1	564	1	PHOX2A	11	71952253	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1902416	71952253	63054263	283	31267											
RELT	84957	broad.mit.edu	37	chr11	73101849	73101849	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgccccccaggcaccttctCagctgcatggggctccagcc	5	7	10	19	0	1	0	1	0	1	0	3	0	2	0	6	3	4	4	6	3	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:73101849C>G	ENST00000064780.2	+	4	431	c.170C>G	c.(169-171)tCa>tGa	p.S57*	RELT_ENST00000393580.2_Nonsense_Mutation_p.S57*	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	57						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGCACCTTCTCAGCTGCATGG	0.647													22	58					0	0	0	0	G	73101849	C	G	73101849	4	3	178	1	0	0	0	0	0	1	0	0	13303	838	29	2	180	2	RELT	11	73101849	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1149596	73101849	61904667	284	31268											
ZBTB16	7704	broad.mit.edu	37	chr11	113935271	113935271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtcgagcttcctgataacGaggctgtggagcagcacagg	9	7	16	9	2	0	1	0	1	0	0	2	4	1	2	1	4	4	4	1	4	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:113935271G>A	ENST00000335953.4	+	2	1629	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K	ZBTB16_ENST00000392996.2_Missense_Mutation_p.E417K	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	417					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCCTGATAACGAGGCTGTGGA	0.632													21	10					0	0	0	0	A	113935271	G	A	113935271	3	1	178	1	0	0	0	0	1	0	0	0	17621	1059	37	1	1251	1	ZBTB16	11	113935271	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	40833422	113935271	21071245	285	31269											
ZBTB16	7704	broad.mit.edu	37	chr11	114121062	114121062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcaggtgagaagccctttGagtgtaagctctgccaccag	9	9	11	12	0	2	2	1	2	1	1	2	3	2	2	4	1	3	2	4	1	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:114121062G>C	ENST00000335953.4	+	7	2187	c.1807G>C	c.(1807-1809)Gag>Cag	p.E603Q	ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.E603Q|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	603					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GAAGCCCTTTGAGTGTAAGCT	0.622													21	23					0	0	0	0	C	114121062	G	C	114121062	3	2	178	1	0	0	0	0	1	0	0	0	17621	1291	45	2	1829	2	ZBTB16	11	114121062	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	185791	114121062	20885454	286	31270											
OR8D1	283159	broad.mit.edu	37	chr11	124180474	124180474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgacgaaggacaagctgctGaggaaatagtacatgggggt	13	7	15	6	2	0	1	0	1	0	0	1	5	0	3	0	4	3	3	0	4	5	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:124180474G>A	ENST00000357821.2	-	1	259	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACAAGCTGCTGAGGAAATAGT	0.463													26	24					0	0	0	0	A	124180474	G	A	124180474	2	1	178	1	0	0	0	0	0	0	0	1	11302	1277	45	2		2	OR8D1	11	124180474	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	10059412	124180474	10826042	287	31271											
PUS3	83480	broad.mit.edu	37	chr11	125765351	125765351	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagatagaatagtcctctGaaaattaatcacaccgttgg	15	10	8	8	1	2	3	1	1	1	2	3	3	3	3	2	1	1	2	2	1	6	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:125765351G>C	ENST00000227474.3	-	3	809	c.712C>G	c.(712-714)Cag>Gag	p.Q238E	PUS3_ENST00000530811.1_Missense_Mutation_p.Q238E|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000526028.1_Intron	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	238						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		ATAGTCCTCTGAAAATTAATC	0.443													33	19					0	0	0	0	C	125765351	G	C	125765351	3	2	178	1	0	0	0	0	1	0	0	0	12914	1299	45	2	741	2	PUS3	11	125765351	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1584877	125765351	9241165	288	31272											
GLB1L2	89944	broad.mit.edu	37	chr11	134241000	134241000	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctatgagaccagcatcacCtcgtctggcatcctcagtgg	8	10	9	14	1	4	1	2	1	2	1	6	2	5	1	3	2	1	2	3	2	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:134241000C>A	ENST00000535456.2	+	13	1502	c.1314C>A	c.(1312-1314)acC>acA	p.T438T	GLB1L2_ENST00000339772.7_Silent_p.T438T|GLB1L2_ENST00000389881.3_Silent_p.T438T|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	438					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCAGCATCACCTCGTCTGGCA	0.527													43	81					2.62258e-09	2.73566e-09	1	0	A	134241000	C	A	134241000	2	1	178	1	0	0	0	0	0	0	0	1	6480	668	24	4		4	GLB1L2	11	134241000	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	8475649	134241000	765516	289	31273											
CACNA1C	775	broad.mit.edu	37	chr12	2774867	2774867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgggcagagtatgaccctGaagccaagtaagttcccaga	12	8	11	10	0	1	4	0	2	1	2	2	4	2	4	3	1	1	4	3	1	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:2774867G>A	ENST00000399655.1	+	36	4784	c.4519G>A	c.(4519-4521)Gaa>Aaa	p.E1507K	CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1494K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1496K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1529K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1507K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1532K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E1555K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1524K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1527K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1535K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1496K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1507K	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1555	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTATGACCCTGAAGCCAAGTA	0.517													10	18					0	0	0	0	A	2774867	G	A	2774867	3	1	178	1	0	0	0	0	1	0	0	0	2565	1291	45	2	4987	2	CACNA1C	12	2774867	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08		2774867	131077028	290	31274											
CD27	939	broad.mit.edu	37	chr12	6554306	6554306	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgttctggggaccctGgtggggctctcagctactcc	3	11	14	13	1	2	0	1	0	2	0	4	1	3	1	2	5	3	3	2	5	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:6554306G>A	ENST00000266557.3	+	1	274	c.45G>A	c.(43-45)ctG>ctA	p.L15L	CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233.1	P26842	CD27_HUMAN	CD27 molecule	15					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TGGGGACCCTGGTGGGGCTCT	0.642													9	15					0	0	0	0	A	6554306	G	A	6554306	2	1	178	1	0	0	0	0	0	0	0	1	3019	1335	47	4		4	CD27	12	6554306	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3779439	6554306	127297589	291	31275											
DUSP16	80824	broad.mit.edu	37	chr12	12630651	12630651	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtaccagcgggctgtcctCtaacagcgacggctgcacgc	7	7	12	15	4	1	0	0	0	1	0	2	1	2	0	2	2	5	4	2	2	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:12630651C>G	ENST00000228862.2	-	7	1745	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	372					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGGCTGTCCTCTAACAGCGAC	0.622													23	35					0	0	0	0	G	12630651	C	G	12630651	3	3	178	1	0	0	0	0	1	0	0	0	4852	922	32	2	887	2	DUSP16	12	12630651	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	6076345	12630651	121221244	292	31276											
GRIN2B	2904	broad.mit.edu	37	chr12	14019074	14019074	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgagaacgagctctgctGcctgacacggccaggacggc	8	7	13	13	3	2	2	0	2	2	1	2	5	2	3	2	3	4	2	2	3	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:14019074G>C	ENST00000279593.3	-	2	278	c.69C>G	c.(67-69)ggC>ggG	p.G23G		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	23					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAGCTCTGCTGCCTGACACGG	0.582													23	34					0	0	0	0	C	14019074	G	C	14019074	2	2	178	1	0	0	0	0	0	0	0	1	6830	1306	46	4		4	GRIN2B	12	14019074	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1388423	14019074	119832821	293	31277											
PIK3C2G	5288	broad.mit.edu	37	chr12	18439791	18439791	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattttaagtcaataggttGttccattcagctagtggaag	11	16	9	5	0	2	0	2	0	0	0	3	1	3	1	1	2	1	3	1	2	6	8			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:18439791G>C	ENST00000433979.1	+	3	805	c.689G>C	c.(688-690)tGt>tCt	p.C230S	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.C230S|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.C230S|PIK3C2G_ENST00000536967.1_3'UTR|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.C230S	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	230					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCAATAGGTTGTTCCATTCAG	0.299													3	8					0	0	0	0	C	18439791	G	C	18439791	3	2	178	1	0	0	0	0	1	0	0	0	11983	1377	48	4	695	4	PIK3C2G	12	18439791	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	4420717	18439791	115412104	294	31278											
RECQL	5965	broad.mit.edu	37	chr12	21629873	21629873	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttgtatctcccattaatGagctttacaatatcctcaat	11	16	3	11	0	2	1	1	1	1	0	4	1	3	1	3	0	2	2	3	0	6	6	rs138413466		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:21629873G>C	ENST00000444129.2	-	8	1389	c.921C>G	c.(919-921)ctC>ctG	p.L307L	RECQL_ENST00000421138.2_Silent_p.L307L	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	307	Helicase C-terminal.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TCCCATTAATGAGCTTTACAA	0.318								Other identified genes with known or suspected DNA repair function					3	23					0	0	0	0	C	21629873	G	C	21629873	2	2	178	1	0	0	0	0	0	0	0	1	13283	1277	45	2		2	RECQL	12	21629873	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3190082	21629873	112222022	295	31279											
C12orf71	728858	broad.mit.edu	37	chr12	27235188	27235188	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaactgctctggttcatcctGaatttggtcttgtctcttca	7	17	7	10	0	5	1	2	1	3	0	7	1	6	1	1	2	2	2	1	2	2	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:27235188G>C	ENST00000429849.2	-	1	259	c.229C>G	c.(229-231)Cag>Gag	p.Q77E		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	77										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GGTTCATCCTGAATTTGGTCT	0.507													17	30					0	0	0	0	C	27235188	G	C	27235188	3	2	178	1	0	0	0	0	1	0	0	0	1724	1299	45	2	588	2	C12orf71	12	27235188	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	5605315	27235188	106616707	296	31280											
MRPS35	60488	broad.mit.edu	37	chr12	27869326	27869326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgcagtacctcttcctgttCgaatgggttatccagtaaaa	10	13	8	10	1	1	0	0	0	1	0	4	1	3	0	3	1	2	5	3	1	5	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:27869326C>G	ENST00000081029.3	+	3	327	c.256C>G	c.(256-258)Cga>Gga	p.R86G	MRPS35_ENST00000538315.1_Missense_Mutation_p.R86G	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	86					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					TCTTCCTGTTCGAATGGGTTA	0.453													25	27					0	0	0	0	G	27869326	C	G	27869326	3	3	178	1	0	0	0	0	1	0	0	0	9914	876	31	3	266	3	MRPS35	12	27869326	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	634138	27869326	105982569	297	31281											
LRRK2	120892	broad.mit.edu	37	chr12	40696615	40696615	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgcctttcttgcctccttCtatgacaatcctaaaattat	10	17	3	11	0	2	1	0	1	2	0	4	1	4	1	4	0	2	0	4	0	6	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:40696615C>G	ENST00000298910.7	+	26	3579	c.3521C>G	c.(3520-3522)tCt>tGt	p.S1174C	LRRK2_ENST00000343742.2_Missense_Mutation_p.S1174C	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1174					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGCCTCCTTCTATGACAATC	0.269													46	121					0	0	0	0	G	40696615	C	G	40696615	3	3	178	1	0	0	0	0	1	0	0	0	9097	913	32	2	3623	2	LRRK2	12	40696615	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	12827289	40696615	93155280	298	31282											
C12orf54	121273	broad.mit.edu	37	chr12	48888677	48888677	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaggccgtatccacaacctGaagacacagctcttcagtca	12	7	9	13	1	3	2	2	1	1	1	4	3	4	3	3	2	2	2	3	2	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:48888677G>A	ENST00000314014.2	+	8	470	c.339G>A	c.(337-339)ctG>ctA	p.L113L	C12orf54_ENST00000548364.1_Silent_p.L113L|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	113										endometrium(1)|large_intestine(4)	5						TCCACAACCTGAAGACACAGC	0.498													45	84					0	0	0	0	A	48888677	G	A	48888677	2	1	178	1	0	0	0	0	0	0	0	1	1711	1277	45	2		2	C12orf54	12	48888677	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	8192062	48888677	84963218	299	31283											
OR8S1	341568	broad.mit.edu	37	chr12	48919697	48919697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaggaaaaccatttcagtaGagggctgcctggctcaggtc	11	8	13	9	0	2	2	2	0	0	2	3	3	2	3	2	4	2	3	2	4	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:48919697G>A	ENST00000310194.1	+	1	283	c.283G>A	c.(283-285)Gag>Aag	p.E95K	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CATTTCAGTAGAGGGCTGCCT	0.527													21	53					0	0	0	0	A	48919697	G	A	48919697	3	1	178	1	0	0	0	0	1	0	0	0	11317	943	33	2	285	2	OR8S1	12	48919697	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	31020	48919697	84932198	300	31284											
OR8S1	341568	broad.mit.edu	37	chr12	48919765	48919765	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagcctgccttctctcaggGatggcctatgaccgccatgc	7	9	11	14	1	2	1	1	1	1	0	3	3	2	2	5	2	3	0	5	2	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:48919765G>T	ENST00000310194.1	+	1	351	c.351G>T	c.(349-351)ggG>ggT	p.G117G	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TTCTCTCAGGGATGGCCTATG	0.537													38	67					6.5261e-18	7.00498e-18	1	0	T	48919765	G	T	48919765	2	4	178	1	0	0	0	0	0	0	0	1	11317	1161	41	2		2	OR8S1	12	48919765	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	68	48919765	84932130	301	31285											
SCN8A	6334	broad.mit.edu	37	chr12	52156422	52156422	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatggaactgagtctagcaGacgtggaggggctttcagtg	10	10	15	6	1	2	2	1	1	1	1	2	4	2	4	0	4	2	2	0	4	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:52156422G>C	ENST00000354534.5	+	15	2684	c.2506G>C	c.(2506-2508)Gac>Cac	p.D836H	SCN8A_ENST00000545061.1_Missense_Mutation_p.D836H|SCN8A_ENST00000550891.1_Missense_Mutation_p.D836H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	836					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GAGTCTAGCAGACGTGGAGGG	0.408													47	86					0	0	0	0	C	52156422	G	C	52156422	3	2	178	1	0	0	0	0	1	0	0	0	14011	942	33	2	2560	2	SCN8A	12	52156422	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3236657	52156422	81695473	302	31286											
MAP3K12	7786	broad.mit.edu	37	chr12	53879964	53879964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggccagcccgcagtacctCatacagctggccctgggcgc	6	5	13	17	3	1	0	1	0	0	0	1	0	1	0	4	3	4	3	4	3	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:53879964C>T	ENST00000267079.2	-	5	823	c.598G>A	c.(598-600)Gag>Aag	p.E200K	MAP3K12_ENST00000547488.1_Missense_Mutation_p.E233K|MAP3K12_ENST00000547035.1_Missense_Mutation_p.E233K	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	200	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CGCAGTACCTCATACAGCTGG	0.597													23	34					0	0	0	0	T	53879964	C	T	53879964	3	4	178	1	0	0	0	0	1	0	0	0	9315	835	29	2	2025	2	MAP3K12	12	53879964	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1723542	53879964	79971931	303	31287											
HOXC13	3229	broad.mit.edu	37	chr12	54338956	54338956	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaacctctctgagcgccaGgtaaccatctggttccagaa	11	8	9	13	2	2	2	0	1	2	1	4	3	3	2	4	2	3	2	4	2	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:54338956G>C	ENST00000243056.3	+	2	1065	c.909G>C	c.(907-909)caG>caC	p.Q303H		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	303						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						CTGAGCGCCAGGTAACCATCT	0.577			T	NUP98	AML								26	39					0	0	0	0	C	54338956	G	C	54338956	3	2	178	1	0	0	0	0	1	0	0	0	7362	991	35	4	915	4	HOXC13	12	54338956	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	458992	54338956	79512939	304	31288											
STAT2	6773	broad.mit.edu	37	chr12	56742395	56742395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagaatggtaacttgccagGagggctctctcgctggagga	9	8	14	10	1	1	1	0	0	1	1	3	4	1	4	2	5	2	3	2	5	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:56742395G>T	ENST00000314128.4	-	19	1665	c.1642C>A	c.(1642-1644)Cct>Act	p.P548T	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.P544T			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	548					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AACTTGCCAGGAGGGCTCTCT	0.527													35	52					2.42023e-17	2.58459e-17	1	0	T	56742395	G	T	56742395	3	4	178	1	0	0	0	0	1	0	0	0	15355	1174	41	2	937	2	STAT2	12	56742395	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2403439	56742395	77109500	305	31289											
LRP1	4035	broad.mit.edu	37	chr12	57573152	57573152	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacgcacgtcagatggagatCcgaggtgtggacctggatgc	9	8	15	9	3	1	2	1	0	0	2	2	6	2	4	2	4	2	1	2	4	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:57573152C>T	ENST00000243077.3	+	29	5245	c.4779C>T	c.(4777-4779)atC>atT	p.I1593I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1593					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGATGGAGATCCGAGGTGTGG	0.567													13	19					0	0	0	0	T	57573152	C	T	57573152	2	4	178	1	0	0	0	0	0	0	0	1	9015	845	30	2		2	LRP1	12	57573152	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	830757	57573152	76278743	306	31290											
SHMT2	6472	broad.mit.edu	37	chr12	57626334	57626334	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagcgcctatgctcgcctCattgactacgcccgcatgag	8	8	9	16	4	1	2	1	2	0	0	2	2	1	2	4	0	3	2	4	0	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:57626334C>G	ENST00000328923.3	+	6	1145	c.693C>G	c.(691-693)ctC>ctG	p.L231L	SHMT2_ENST00000553474.1_Silent_p.L210L|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000393827.4_Silent_p.L135L|SHMT2_ENST00000414700.3_Silent_p.L210L|SHMT2_ENST00000557487.1_Silent_p.L221L|SHMT2_ENST00000449049.3_Silent_p.L210L	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	231						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	ATGCTCGCCTCATTGACTACG	0.632													46	90					0	0	0	0	G	57626334	C	G	57626334	2	3	178	1	0	0	0	0	0	0	0	1	14374	813	29	2		2	SHMT2	12	57626334	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	53182	57626334	76225561	307	31291											
INHBE	83729	broad.mit.edu	37	chr12	57850383	57850383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggactggatactgcagcccGaggggtaccagctgaattac	10	7	14	10	1	0	1	0	1	0	0	0	4	0	3	2	4	6	3	2	4	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:57850383G>A	ENST00000266646.2	+	2	1021	c.805G>A	c.(805-807)Gag>Aag	p.E269K	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	269					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						ACTGCAGCCCGAGGGGTACCA	0.612											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	48					0	0	0	0	A	57850383	G	A	57850383	3	1	178	1	0	0	0	0	1	0	0	0	7797	1059	37	1	811	1	INHBE	12	57850383	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	224049	57850383	76001512	308	31292											
METTL1	4234	broad.mit.edu	37	chr12	58163393	58163393	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgctagcagggtgggactGatgattcgccacttgtgctt	6	13	13	9	1	1	2	0	2	1	0	2	3	1	3	1	2	3	3	1	2	1	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:58163393G>C	ENST00000324871.7	-	4	1237	c.528C>G	c.(526-528)atC>atG	p.I176M	METTL1_ENST00000257848.7_Missense_Mutation_p.Q115E	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	methyltransferase like 1	176						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			GGGTGGGACTGATGATTCGCC	0.542													45	95					0	0	0	0	C	58163393	G	C	58163393	3	2	178	1	0	0	0	0	1	0	0	0	9562	1299	45	2	314	2	METTL1	12	58163393	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	313010	58163393	75688502	309	31293											
E2F7	144455	broad.mit.edu	37	chr12	77419538	77419538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagctgggctattgatcCaaggccaggcaagctgaaat	13	7	13	8	0	0	3	0	2	0	1	1	4	1	3	2	3	2	4	2	3	5	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:77419538C>T	ENST00000322886.7	-	12	2600	c.2365G>A	c.(2365-2367)Gga>Aga	p.G789R	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	789					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GCTATTGATCCAAGGCCAGGC	0.537													20	32					0	0	0	0	T	77419538	C	T	77419538	3	4	178	1	0	0	0	0	1	0	0	0	4908	603	21	4	378	4	E2F7	12	77419538	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	19256145	77419538	56432357	310	31294											
C12orf50	160419	broad.mit.edu	37	chr12	88381726	88381726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttagggaatgctttggatGaggactgtccttgttatctt	8	16	12	5	0	1	1	0	1	1	0	2	4	2	4	1	3	1	3	1	3	3	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:88381726G>A	ENST00000298699.2	-	9	898	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	240										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCTTTGGATGAGGACTGTCC	0.333													24	37					0	0	0	0	A	88381726	G	A	88381726	3	1	178	1	0	0	0	0	1	0	0	0	1707	1290	45	2	546	2	C12orf50	12	88381726	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	10962188	88381726	45470169	311	31295											
FGD6	55785	broad.mit.edu	37	chr12	95603900	95603900	+	Missense_Mutation	SNP	T	T	A																															catcactgttggattccataTtcaattcacttttatttcct																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:95603900T>A	ENST00000343958.4	-	2	1383	c.1160A>T	c.(1159-1161)aAt>aTt	p.N387I	FGD6_ENST00000546711.1_Missense_Mutation_p.N387I|FGD6_ENST00000549499.1_Missense_Mutation_p.N387I	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	387					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGATTCCATATTCAATTCACT	0.333													30	68					0	0	0	0	A	95603900	T	A	95603900	3	1	178	1	0	0	0	0	1	0	0	0	5882	1493	52	5	3212	5	FGD6	12	95603900	Missense_Mutation	SNP	T	TCGA-CR-6472-01A-11D-1870-08	7222174	95603900	38247995	312	31296	237	2									
FGD6	55785	broad.mit.edu	37	chr12	95603902	95603902	+	Silent	SNP	C	C	T																															tcactgttggattccatattCaattcacttttatttcctag																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:95603902C>T	ENST00000343958.4	-	2	1381	c.1158G>A	c.(1156-1158)ttG>ttA	p.L386L	FGD6_ENST00000546711.1_Silent_p.L386L|FGD6_ENST00000549499.1_Silent_p.L386L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	386					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATTCCATATTCAATTCACTTT	0.333													29	68					0	0	0	0	T	95603902	C	T	95603902	2	4	178	1	0	0	0	0	0	0	0	1	5882	825	29	2		2	FGD6	12	95603902	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	2	95603902	38247993	313	31297	237	2									
ARL1	400	broad.mit.edu	37	chr12	101794928	101794928	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgactgcatctgtgtttGaatagtaacatctccagtat	13	14	7	7	0	2	2	0	2	2	0	3	2	2	2	1	0	2	4	1	0	5	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:101794928G>C	ENST00000261636.8	-	4	422	c.248C>G	c.(247-249)tCa>tGa	p.S83*	ARL1_ENST00000551688.1_Intron|ARL1_ENST00000536227.1_Nonsense_Mutation_p.S66*|ARL1_ENST00000551828.1_Nonsense_Mutation_p.S66*|ARL1_ENST00000551671.1_Nonsense_Mutation_p.S83*|ARL1_ENST00000539055.1_Nonsense_Mutation_p.S37*	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	83					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	p.S83*(1)		central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		ATCTGTGTTTGAATAGTAACA	0.368													28	77					0	0	0	0	C	101794928	G	C	101794928	4	2	178	1	0	0	0	0	0	1	0	0	927	1294	45	2	309	2	ARL1	12	101794928	Nonsense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	6191026	101794928	32056967	314	31298											
CORO1C	23603	broad.mit.edu	37	chr12	109051145	109051145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtggtgaagacattgccatCggccaggaagatggctctca	11	8	13	9	1	1	3	1	1	1	2	3	4	1	4	2	4	1	1	2	4	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:109051145C>T	ENST00000261401.3	-	6	857	c.685G>A	c.(685-687)Gat>Aat	p.D229N	CORO1C_ENST00000541050.1_Missense_Mutation_p.D229N|CORO1C_ENST00000420959.2_Missense_Mutation_p.D282N|CORO1C_ENST00000421578.2_Missense_Mutation_p.D124N|CORO1C_ENST00000549772.1_Missense_Mutation_p.D235N|CORO1C_ENST00000549384.1_Intron	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	229					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	p.D229N(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						ACATTGCCATCGGCCAGGAAG	0.547													37	54					0	0	0	0	T	109051145	C	T	109051145	3	4	178	1	0	0	0	0	1	0	0	0	3785	884	31	1	763	1	CORO1C	12	109051145	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	7256217	109051145	24800750	315	31299											
ACACB	32	broad.mit.edu	37	chr12	109675123	109675123	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccaaggtgaaggaaggtgtgGaagtgacggaccataggttc	12	7	16	6	1	0	2	0	2	0	0	1	5	0	5	2	6	0	1	2	6	5	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:109675123G>C	ENST00000338432.7	+	34	4719	c.4600G>C	c.(4600-4602)Gaa>Caa	p.E1534Q	ACACB_ENST00000377854.5_Missense_Mutation_p.E1464Q|ACACB_ENST00000377848.3_Missense_Mutation_p.E1534Q|ACACB_ENST00000543201.1_Missense_Mutation_p.E200Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1534					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGAAGGTGTGGAAGTGACGGA	0.532													27	42					0	0	0	0	C	109675123	G	C	109675123	3	2	178	1	0	0	0	0	1	0	0	0	107	1175	41	2	4730	2	ACACB	12	109675123	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	623978	109675123	24176772	316	31300											
UBE3B	89910	broad.mit.edu	37	chr12	109945505	109945505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcaactcttggccatgctGatgctgttctgtgactgttc	7	14	10	10	0	2	2	0	2	2	0	3	2	2	2	1	1	4	5	1	1	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:109945505G>A	ENST00000342494.3	+	15	2182	c.1587G>A	c.(1585-1587)ctG>ctA	p.L529L	UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Silent_p.L529L|UBE3B_ENST00000434735.2_Silent_p.L529L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	529					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGGCCATGCTGATGCTGTTCT	0.498													56	82					0	0	0	0	A	109945505	G	A	109945505	2	1	178	1	0	0	0	0	0	0	0	1	16976	1277	45	2		2	UBE3B	12	109945505	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	270382	109945505	23906390	317	31301											
TRPV4	59341	broad.mit.edu	37	chr12	110246198	110246198	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccgggacacgatgtcaaaGaggataggccggttgaagac	12	5	14	10	3	1	3	1	1	0	2	1	6	1	5	3	4	0	1	3	4	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:110246198G>C	ENST00000418703.2	-	2	556	c.462C>G	c.(460-462)ctC>ctG	p.L154L	TRPV4_ENST00000346520.2_Silent_p.L154L|TRPV4_ENST00000261740.2_Silent_p.L154L|TRPV4_ENST00000544971.1_Silent_p.L154L|TRPV4_ENST00000541794.1_Silent_p.L154L|TRPV4_ENST00000537083.1_Silent_p.L154L|TRPV4_ENST00000536838.1_Silent_p.L120L|TRPV4_ENST00000392719.2_Silent_p.L154L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	154					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CGATGTCAAAGAGGATAGGCC	0.607													17	56					0	0	0	0	C	110246198	G	C	110246198	2	2	178	1	0	0	0	0	0	0	0	1	16693	929	33	2		2	TRPV4	12	110246198	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	300693	110246198	23605697	318	31302											
DDX54	79039	broad.mit.edu	37	chr12	113612896	113612896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggagaacagcaccgtCtggtggcccccggggaggcg	6	4	19	12	4	1	1	0	0	1	1	1	3	1	2	3	7	2	1	3	7	1	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:113612896C>A	ENST00000314045.7	-	8	846	c.819G>T	c.(817-819)caG>caT	p.Q273H	DDX54_ENST00000306014.5_Missense_Mutation_p.Q273H	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	273	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACAGCACCGTCTGGTGGCCCC	0.657											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	53					1.22384e-17	1.3114e-17	1	0	A	113612896	C	A	113612896	3	1	178	1	0	0	0	0	1	0	0	0	4404	912	32	2	1881	2	DDX54	12	113612896	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	3366698	113612896	20238999	319	31303											
WSB2	55884	broad.mit.edu	37	chr12	118474261	118474261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaagagacaacactgctttGatggccctctagcttccgaa	12	9	8	12	1	1	2	0	1	1	1	2	4	2	2	2	1	3	2	2	1	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:118474261G>C	ENST00000315436.3	-	6	856	c.715C>G	c.(715-717)Caa>Gaa	p.Q239E	WSB2_ENST00000535496.1_Missense_Mutation_p.Q241E|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Missense_Mutation_p.Q29E|WSB2_ENST00000441406.2_Missense_Mutation_p.Q256E|WSB2_ENST00000542304.1_Missense_Mutation_p.Q14E	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	239					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACACTGCTTTGATGGCCCTCT	0.507													56	87					0	0	0	0	C	118474261	G	C	118474261	3	2	178	1	0	0	0	0	1	0	0	0	17501	1299	45	2	515	2	WSB2	12	118474261	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	4861365	118474261	15377634	320	31304											
CCDC64	92558	broad.mit.edu	37	chr12	120518755	120518755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaccgactcagagtcacttCtgaggacaaggagccaaagg	14	5	12	10	1	3	3	2	1	1	2	3	6	3	5	2	3	1	0	2	3	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:120518755C>T	ENST00000397558.2	+	7	1373	c.1373C>T	c.(1372-1374)tCt>tTt	p.S458F	CCDC64_ENST00000257583.4_Missense_Mutation_p.S155F|CCDC64_ENST00000446727.2_Missense_Mutation_p.S129F	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	458					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGAGTCACTTCTGAGGACAAG	0.498													21	34					0	0	0	0	T	120518755	C	T	120518755	3	4	178	1	0	0	0	0	1	0	0	0	2862	913	32	2	1399	2	CCDC64	12	120518755	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	2044494	120518755	13333140	321	31305											
TMEM132B	114795	broad.mit.edu	37	chr12	125834005	125834020	+	Frame_Shift_Del	DEL	GAGTCGAGGGATTGTG	GAGTCGAGGGATTGTG	-																															ctttcttgtgcagtgacagaGagtcgagggattgtggatag																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:125834005_125834020delGAGTCGAGGGATTGTG	ENST00000299308.3	+	2	68_83	c.60_75delGAGTCGAGGGATTGTG	c.(58-75)gafs	p.ESRGIV20fs	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	20						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGTGACAGAGAGTCGAGGGATTGTGGATAGCCTGC	0.472													21	120	---	---	---	---					-	125834020	GAGTCGAGGGATTGTG	-	125834005	7	5	178	1	0	1	0	1	0	0	0	0	16140	933	33	0	66	0	TMEM132B	12	125834005	Frame_Shift_Del	DEL	GAGTCGAGGGATTGTG	TCGA-CR-6472-01A-11D-1870-08	5315250	125834005	8017890	322	31306											
GPR133	283383	broad.mit.edu	37	chr12	131569129	131569129	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacggctgtgcgctcacgaGaggaaacctcacctactccg	9	6	10	16	4	2	1	2	0	0	1	3	3	3	2	4	2	3	2	4	2	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:131569129G>C	ENST00000261654.5	+	15	2151	c.1592G>C	c.(1591-1593)aGa>aCa	p.R531T	GPR133_ENST00000535015.1_Missense_Mutation_p.R563T|GPR133_ENST00000376682.4_Missense_Mutation_p.R217T|GPR133_ENST00000543617.1_Missense_Mutation_p.R50T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	531	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCGCTCACGAGAGGAAACCTC	0.622													20	32					0	0	0	0	C	131569129	G	C	131569129	3	2	178	1	0	0	0	0	1	0	0	0	6692	942	33	2	1650	2	GPR133	12	131569129	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	5735124	131569129	2282766	323	31307											
TNFRSF19	55504	broad.mit.edu	37	chr13	24243009	24243009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattcattctctcaatccaGaacttgaaagctcaacgtct	13	12	4	12	1	5	2	3	1	2	1	7	2	6	2	1	0	3	1	1	0	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:24243009G>A	ENST00000382263.3	+	9	1202	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E340K|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.E340K|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.E208K	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	340					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TCTCAATCCAGAACTTGAAAG	0.448													46	40					0	0	0	0	A	24243009	G	A	24243009	3	1	178	1	0	0	0	0	1	0	0	0	16386	943	33	2	1048	2	TNFRSF19	13	24243009	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08		24243009	90926869	324	31308											
TSC22D1	8848	broad.mit.edu	37	chr13	45149790	45149790	+	Missense_Mutation	SNP	G	G	C																															ttccgtgtgagattcatccaGatcatcatagctctcagtgt																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:45149790G>C	ENST00000458659.2	-	1	911	c.421C>G	c.(421-423)Ctg>Gtg	p.L141V	TSC22D1_ENST00000501704.2_Missense_Mutation_p.L141V	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	141					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GATTCATCCAGATCATCATAG	0.488													26	21					0	0	0	0	C	45149790	G	C	45149790	3	2	178	1	0	0	0	0	1	0	0	0	16702	933	33	2	2941	2	TSC22D1	13	45149790	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	20906781	45149790	70020088	325	31309	238	2									
TSC22D1	8848	broad.mit.edu	37	chr13	45149798	45149798	+	Missense_Mutation	SNP	T	T	C																															gagattcatccagatcatcaTagctctcagtgtcctctgct																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:45149798T>C	ENST00000458659.2	-	1	903	c.413A>G	c.(412-414)tAt>tGt	p.Y138C	TSC22D1_ENST00000501704.2_Missense_Mutation_p.Y138C	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	138					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CAGATCATCATAGCTCTCAGT	0.473													25	23					0	0	0	0	C	45149798	T	C	45149798	3	2	178	1	0	0	0	0	1	0	0	0	16702	1406	49	5	2949	5	TSC22D1	13	45149798	Missense_Mutation	SNP	T	TCGA-CR-6472-01A-11D-1870-08	8	45149798	70020080	326	31310	238	2									
RAP2A	5911	broad.mit.edu	37	chr13	98086796	98086796	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccctgaccgtgcagttcgtGaccggcaccttcatcgagaa	8	8	11	14	4	1	3	1	2	0	1	3	4	1	3	4	1	1	3	4	1	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:98086796G>C	ENST00000245304.4	+	1	321	c.72G>C	c.(70-72)gtG>gtC	p.V24V		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	24					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			TGCAGTTCGTGACCGGCACCT	0.652													34	19					0	0	0	0	C	98086796	G	C	98086796	2	2	178	1	0	0	0	0	0	0	0	1	13122	1277	45	2		2	RAP2A	13	98086796	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	52936998	98086796	17083082	327	31311											
MYH7	4625	broad.mit.edu	37	chr14	23901905	23901905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagatgtggggcggggcctCgctcctcttcttgccccggt	3	10	15	13	3	2	1	0	0	2	1	4	2	3	1	4	5	1	1	4	5	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:23901905C>T	ENST00000355349.3	-	5	607	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	149	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		GGCGGGGCCTCGCTCCTCTTC	0.597													47	30					0	0	0	0	T	23901905	C	T	23901905	3	4	178	1	0	0	0	0	1	0	0	0	10109	893	31	1	5506	1	MYH7	14	23901905	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08		23901905	83447635	328	31312											
NYNRIN	57523	broad.mit.edu	37	chr14	24886199	24886199	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttgctgcacctggccttCagggcctcctccactgatgc	4	11	9	17	0	1	1	1	1	0	0	3	1	3	1	6	2	3	2	6	2	0	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:24886199C>T	ENST00000382554.3	+	9	5562	c.5244C>T	c.(5242-5244)ttC>ttT	p.F1748F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1748	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACCTGGCCTTCAGGGCCTCCT	0.612													12	9					0	0	0	0	T	24886199	C	T	24886199	2	4	178	1	0	0	0	0	0	0	0	1	10867	825	29	2		2	NYNRIN	14	24886199	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	984294	24886199	82463341	329	31313											
POLE2	5427	broad.mit.edu	37	chr14	50117106	50117106	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgcccaatacactgggcaGacataaagaggtaggggagt	14	7	13	7	0	0	2	0	0	0	2	0	3	0	3	1	4	2	2	1	4	6	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:50117106G>C	ENST00000539565.2	-	16	1514	c.1296C>G	c.(1294-1296)gtC>gtG	p.V432V	POLE2_ENST00000216367.5_Silent_p.V458V|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Silent_p.V458V	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	458					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					ACACTGGGCAGACATAAAGAG	0.398													44	20					0	0	0	0	C	50117106	G	C	50117106	2	2	178	1	0	0	0	0	0	0	0	1	12269	929	33	2		2	POLE2	14	50117106	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	25230907	50117106	57232434	330	31314											
DLGAP5	9787	broad.mit.edu	37	chr14	55625316	55625316	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatcaacttcctttggtatCacagaaactgctgtttcagc	10	15	6	10	0	3	1	3	0	0	1	4	1	4	1	1	1	4	3	1	1	4	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:55625316C>G	ENST00000247191.2	-	14	2013	c.1797G>C	c.(1795-1797)gtG>gtC	p.V599V	DLGAP5_ENST00000395425.2_Silent_p.V599V	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	599					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CCTTTGGTATCACAGAAACTG	0.363													30	23					0	0	0	0	G	55625316	C	G	55625316	2	3	178	1	0	0	0	0	0	0	0	1	4600	813	29	2		2	DLGAP5	14	55625316	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	5508210	55625316	51724224	331	31315											
SLC35F4	341880	broad.mit.edu	37	chr14	58048118	58048118	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagaaagagtttcagcgtCagaccatcttcaccaaaaat	16	10	6	9	1	4	3	3	0	1	3	4	3	4	3	2	0	1	1	2	0	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:58048118C>A	ENST00000556826.1	-	4	857	c.621G>T	c.(619-621)ctG>ctT	p.L207L	SLC35F4_ENST00000339762.6_Silent_p.L243L|SLC35F4_ENST00000554729.1_Silent_p.L84L	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTTCAGCGTCAGACCATCTT	0.403													3	9					0.004672	0.0047019	1	0	A	58048118	C	A	58048118	2	1	178	1	0	0	0	0	0	0	0	1	14679	813	29	2		2	SLC35F4	14	58048118	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	2422802	58048118	49301422	332	31316											
ACTN1	87	broad.mit.edu	37	chr14	69352204	69352204	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgggcagccaggtcactCtcgaaggcctcatgcttctt	6	11	12	12	1	4	0	2	0	2	0	5	1	4	0	2	4	2	2	2	4	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:69352204C>G	ENST00000193403.6	-	12	1706	c.1323G>C	c.(1321-1323)gaG>gaC	p.E441D	ACTN1_ENST00000538545.2_Missense_Mutation_p.E441D|ACTN1_ENST00000376839.3_Missense_Mutation_p.E376D|ACTN1_ENST00000394419.4_Missense_Mutation_p.E441D|ACTN1_ENST00000438964.2_Missense_Mutation_p.E441D	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	441	Interaction with DDN.				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)		CCAGGTCACTCTCGAAGGCCT	0.617													16	11					0	0	0	0	G	69352204	C	G	69352204	3	3	178	1	0	0	0	0	1	0	0	0	204	912	32	2	1465	2	ACTN1	14	69352204	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	11304086	69352204	37997336	333	31317											
SYNJ2BP	55333	broad.mit.edu	37	chr14	70839806	70839806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatgggaataccacttgggtCcccttcacctcgatgtccta	8	12	8	13	1	1	0	1	0	0	0	4	2	3	1	5	2	1	0	5	2	4	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:70839806C>T	ENST00000256366.4	-	4	421	c.340G>A	c.(340-342)Gac>Aac	p.D114N	RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_5'UTR	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CCACTTGGGTCCCCTTCACCT	0.463													38	21					0	0	0	0	T	70839806	C	T	70839806	3	4	178	1	0	0	0	0	1	0	0	0	15545	855	30	2	101	2	SYNJ2BP	14	70839806	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1487602	70839806	36509734	334	31318											
ADAM21	8747	broad.mit.edu	37	chr14	70925890	70925890	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgtcatatctctgatgtCttttgtgggagagttcaatg	10	16	10	5	0	4	2	2	1	2	1	5	3	4	2	0	1	0	1	0	1	3	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:70925890C>G	ENST00000603540.1	+	2	1932	c.1674C>G	c.(1672-1674)gtC>gtG	p.V558V	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.V558V	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	558	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCTCTGATGTCTTTTGTGGGA	0.398													34	20					0	0	0	0	G	70925890	C	G	70925890	2	3	178	1	0	0	0	0	0	0	0	1	243	900	32	2		2	ADAM21	14	70925890	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	86084	70925890	36423650	335	31319											
SPTLC2	9517	broad.mit.edu	37	chr14	77984395	77984395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttacagtatcaagtatttCtttggtatgagctgctgaca	11	15	8	7	0	2	2	1	2	1	0	2	2	2	2	0	1	3	5	0	1	5	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:77984395C>G	ENST00000216484.2	-	11	1748	c.1555G>C	c.(1555-1557)Gaa>Caa	p.E519Q		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	519						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCAAGTATTTCTTTGGTATGA	0.393													48	15					0	0	0	0	G	77984395	C	G	77984395	3	3	178	1	0	0	0	0	1	0	0	0	15214	922	32	2	141	2	SPTLC2	14	77984395	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	7058505	77984395	29365145	336	31320											
TRIP11	9321	broad.mit.edu	37	chr14	92488172	92488172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctttaagatggctgatttCtacctatatatttataatcc	11	17	6	7	0	1	2	0	1	1	1	2	2	2	2	2	2	1	2	2	2	7	10			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:92488172C>G	ENST00000267622.4	-	4	689	c.316G>C	c.(316-318)Gaa>Caa	p.E106Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	106					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGGCTGATTTCTACCTATATA	0.358			T	PDGFRB	AML								20	15					0	0	0	0	G	92488172	C	G	92488172	3	3	178	1	0	0	0	0	1	0	0	0	16650	922	32	2	5695	2	TRIP11	14	92488172	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	14503777	92488172	14861368	337	31321											
SERPINA10	51156	broad.mit.edu	37	chr14	94756786	94756786	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcctgctcatcttcctCttcctccttgggagcctgca	3	13	8	17	0	3	0	1	0	2	0	7	1	7	1	6	2	3	2	6	2	0	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:94756786C>A	ENST00000554723.1	-	2	683	c.265G>T	c.(265-267)Gag>Tag	p.E89*	SERPINA10_ENST00000393096.1_Nonsense_Mutation_p.E49*|SERPINA10_ENST00000554173.1_Nonsense_Mutation_p.E49*|SERPINA10_ENST00000261994.4_Nonsense_Mutation_p.E49*			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	49					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCATCTTCCTCTTCCTCCTTG	0.617													6	5					0.00116845	0.0011835	1	0	A	94756786	C	A	94756786	4	1	178	1	0	0	0	0	0	1	0	0	14174	922	32	2	1205	2	SERPINA10	14	94756786	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	2268614	94756786	12592754	338	31322											
ATG2B	55102	broad.mit.edu	37	chr14	96783494	96783494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctcaccttcacatctgtGaacactgctattaatccatg	12	12	4	13	0	3	1	2	1	1	0	4	1	4	1	3	0	3	1	3	0	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:96783494G>A	ENST00000359933.4	-	20	4091	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1066										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCACATCTGTGAACACTGCTA	0.323													34	33					0	0	0	0	A	96783494	G	A	96783494	2	1	178	1	0	0	0	0	0	0	0	1	1098	1281	45	2		2	ATG2B	14	96783494	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2026708	96783494	10566046	339	31323											
PPP1R13B	23368	broad.mit.edu	37	chr14	104206422	104206422	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagcggggagtggggctgtGggctgggcaggggggagctc	4	6	24	7	1	1	0	1	0	0	0	2	2	1	2	0	9	2	4	0	9	0	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:104206422G>A	ENST00000202556.9	-	12	2613	c.2331C>T	c.(2329-2331)ccC>ccT	p.P777P	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.P196P	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	777	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GTGGGGCTGTGGGCTGGGCAG	0.602													51	32					0	0	0	0	A	104206422	G	A	104206422	2	1	178	1	0	0	0	0	0	0	0	1	12433	1335	47	4		4	PPP1R13B	14	104206422	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	7422928	104206422	3143118	340	31324											
UBE3A	7337	broad.mit.edu	37	chr15	25599757	25599757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattggtcaccatatgaaaaCctctccgaaaagccttgaac	14	9	6	12	1	2	2	1	2	1	0	3	3	2	2	4	1	3	0	4	1	6	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:25599757C>T	ENST00000232165.3	-	10	2854	c.2198G>A	c.(2197-2199)gGt>gAt	p.G733D	UBE3A_ENST00000566215.1_Missense_Mutation_p.G713D|UBE3A_ENST00000397954.2_Missense_Mutation_p.G736D|UBE3A_ENST00000428984.2_Missense_Mutation_p.G713D|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.G713D	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	736					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CATATGAAAACCTCTCCGAAA	0.353													34	64					0	0	0	0	T	25599757	C	T	25599757	3	4	178	1	0	0	0	0	1	0	0	0	16975	507	18	4	436	4	UBE3A	15	25599757	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08		25599757	76931635	341	31325											
GABRA5	2558	broad.mit.edu	37	chr15	27188522	27188522	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggtcaattactttaccaaGagaggctgggcctgggatgg	10	9	14	8	1	1	1	1	0	0	1	1	3	1	2	2	5	2	1	2	5	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:27188522G>C	ENST00000335625.5	+	10	1926	c.1038G>C	c.(1036-1038)aaG>aaC	p.K346N	GABRA5_ENST00000355395.5_Missense_Mutation_p.K346N|GABRA5_ENST00000400081.3_Missense_Mutation_p.K346N	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	346					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTTTACCAAGAGAGGCTGGG	0.522													3	5					0	0	0	0	C	27188522	G	C	27188522	3	2	178	1	0	0	0	0	1	0	0	0	6212	933	33	2	1068	2	GABRA5	15	27188522	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1588765	27188522	75342870	342	31326											
PLCB2	5330	broad.mit.edu	37	chr15	40591134	40591134	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgaatttggtcaggtgctCcttcgtcatgtagggtttgg	6	15	14	6	1	2	1	2	1	0	0	4	2	3	1	1	4	1	3	1	4	2	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:40591134C>G	ENST00000260402.3	-	9	964	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	PLCB2_ENST00000456256.2_Missense_Mutation_p.E239Q|PLCB2_ENST00000557821.1_Missense_Mutation_p.E239Q	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	239					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GTCAGGTGCTCCTTCGTCATG	0.577													26	69					0	0	0	0	G	40591134	C	G	40591134	3	3	178	1	0	0	0	0	1	0	0	0	12100	864	30	2	2938	2	PLCB2	15	40591134	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	13402612	40591134	61940258	343	31327											
CDAN1	146059	broad.mit.edu	37	chr15	43020963	43020963	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtgtcaccagctgctcttgGagaagtgactctgcctggcg	6	11	13	11	1	3	2	1	1	2	1	3	3	3	2	2	2	3	2	2	2	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:43020963G>C	ENST00000356231.3	-	20	2714	c.2691C>G	c.(2689-2691)ctC>ctG	p.L897L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	897						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCTGCTCTTGGAGAAGTGACT	0.607													16	23					0	0	0	0	C	43020963	G	C	43020963	2	2	178	1	0	0	0	0	0	0	0	1	3083	1161	41	2		2	CDAN1	15	43020963	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2429829	43020963	59510429	344	31328											
SPG11	80208	broad.mit.edu	37	chr15	44955770	44955770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcaccaacagcatcggtaGaacccgccccatggccgcgg	9	4	12	16	4	0	1	0	0	0	1	1	1	0	1	5	4	3	3	5	4	3	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:44955770G>C	ENST00000261866.7	-	1	92	c.76C>G	c.(76-78)Cta>Gta	p.L26V	SPG11_ENST00000427534.2_Missense_Mutation_p.L26V|SPG11_ENST00000558319.1_Missense_Mutation_p.L26V|SPG11_ENST00000535302.2_Missense_Mutation_p.L26V|SPG11_ENST00000559193.1_Missense_Mutation_p.L26V	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	26					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGCATCGGTAGAACCCGCCCC	0.721													5	3					0	0	0	0	C	44955770	G	C	44955770	3	2	178	1	0	0	0	0	1	0	0	0	15131	933	33	2	7415	2	SPG11	15	44955770	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1934807	44955770	57575622	345	31329											
LEO1	123169	broad.mit.edu	37	chr15	52242003	52242003	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatttccatacacgactcAcctcgaatgccccctttata	11	12	4	14	2	1	0	1	0	0	0	3	2	2	0	4	0	2	1	4	0	5	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:52242003A>T	ENST00000299601.5	-	10	1859		c.e10+1		LEO1_ENST00000315141.5_Splice_Site	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)						histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TACACGACTCACCTCGAATGC	0.453													53	128					0	0	0	0	T	52242003	A	T	52242003	5	4	178	1	0	0	0	0	0	0	1	0	8779	173	6	5	212	5	LEO1	15	52242003	Splice_Site	SNP	A	TCGA-CR-6472-01A-11D-1870-08	7286233	52242003	50289389	346	31330											
RNF111	54778	broad.mit.edu	37	chr15	59373350	59373350	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacagctgcaccaatccctCagcatcttcctcctacacac	10	9	4	18	0	2	0	1	0	1	0	5	0	5	0	4	0	5	4	4	0	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:59373350C>T	ENST00000348370.4	+	8	2597	c.2164C>T	c.(2164-2166)Cag>Tag	p.Q722*	RNF111_ENST00000559209.1_Nonsense_Mutation_p.Q722*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.Q722*|RNF111_ENST00000557998.1_Nonsense_Mutation_p.Q722*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.Q722*	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	722	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q722*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACCAATCCCTCAGCATCTTCC	0.502													48	91					0	0	0	0	T	59373350	C	T	59373350	4	4	178	1	0	0	0	0	0	1	0	0	13510	827	29	2	2190	2	RNF111	15	59373350	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	7131347	59373350	43158042	347	31331											
RORA	6095	broad.mit.edu	37	chr15	60795042	60795042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcaaaggcacggcacattCtgataaacaccacctctaga	15	7	7	12	1	3	2	1	1	2	1	3	2	3	2	2	2	1	2	2	2	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:60795042C>T	ENST00000335670.6	-	8	1200	c.1100G>A	c.(1099-1101)aGa>aAa	p.R367K	RORA_ENST00000261523.5_Missense_Mutation_p.R400K|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.R312K|RORA_ENST00000309157.4_Missense_Mutation_p.R392K	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	400	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						ACGGCACATTCTGATAAACAC	0.458													104	172					0	0	0	0	T	60795042	C	T	60795042	3	4	178	1	0	0	0	0	1	0	0	0	13613	913	32	2	487	2	RORA	15	60795042	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1421692	60795042	41736350	348	31332											
MYO9A	4649	broad.mit.edu	37	chr15	72154892	72154892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcaaagaagaacagtattCacagtatgtagggatgctat	16	11	9	5	0	2	2	2	0	0	2	2	3	2	3	0	1	2	4	0	1	8	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:72154892C>T	ENST00000356056.5	-	33	6512	c.6040G>A	c.(6040-6042)Gaa>Aaa	p.E2014K	MYO9A_ENST00000444904.1_Missense_Mutation_p.E1995K|MYO9A_ENST00000424560.1_Missense_Mutation_p.E2085K|MYO9A_ENST00000564571.1_Missense_Mutation_p.E2014K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2014	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAACAGTATTCACAGTATGTA	0.358													31	41					0	0	0	0	T	72154892	C	T	72154892	3	4	178	1	0	0	0	0	1	0	0	0	10154	835	29	2	1646	2	MYO9A	15	72154892	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	11359850	72154892	30376500	349	31333											
IREB2	3658	broad.mit.edu	37	chr15	78783062	78783062	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atatcacctgcaggaagtatCgctaggaatagtgctgccgc	11	9	11	10	2	1	0	1	0	0	0	2	2	1	2	2	2	3	4	2	2	6	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:78783062C>G	ENST00000258886.8	+	18	2432	c.2283C>G	c.(2281-2283)atC>atG	p.I761M		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	761							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CAGGAAGTATCGCTAGGAATA	0.398													85	151					0	0	0	0	G	78783062	C	G	78783062	3	3	178	1	0	0	0	0	1	0	0	0	7879	874	31	3	2353	3	IREB2	15	78783062	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	6628170	78783062	23748330	350	31334											
IL16	3603	broad.mit.edu	37	chr15	81592437	81592437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggtgtgtctgagtcccctCccccagggcggcagcccaat	6	7	12	16	1	1	1	0	1	1	0	3	1	3	1	5	3	1	1	5	3	1	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:81592437C>T	ENST00000394660.2	+	14	3130	c.2770C>T	c.(2770-2772)Ccc>Tcc	p.P924S	IL16_ENST00000302987.4_Missense_Mutation_p.P924S|IL16_ENST00000394652.2_Missense_Mutation_p.P223S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	924					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGAGTCCCCTCCCCCAGGGCG	0.652													36	42					0	0	0	0	T	81592437	C	T	81592437	3	4	178	1	0	0	0	0	1	0	0	0	7686	855	30	2	2820	2	IL16	15	81592437	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	2809375	81592437	20938955	351	31335											
ALPK3	57538	broad.mit.edu	37	chr15	85399943	85399943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtcagacaggagtgcacaGaagggcatgatgacacaggg	14	4	15	8	0	1	4	1	2	0	2	1	5	1	5	0	3	1	2	0	3	1	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:85399943G>A	ENST00000258888.5	+	6	2747	c.2580G>A	c.(2578-2580)caG>caA	p.Q860Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	860					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGTGCACAGAAGGGCATGA	0.542													15	32					0	0	0	0	A	85399943	G	A	85399943	2	1	178	1	0	0	0	0	0	0	0	1	546	933	33	2		2	ALPK3	15	85399943	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3807506	85399943	17131449	352	31336											
PDIA2	64714	broad.mit.edu	37	chr16	336596	336596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggagatggcccctgcctGggaggcattggctgagaagt	9	7	16	9	0	0	2	0	1	0	2	0	5	0	3	3	5	1	2	3	5	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:336596G>C	ENST00000219406.6	+	9	1301	c.1283G>C	c.(1282-1284)tGg>tCg	p.W428S	PDIA2_ENST00000404312.1_Missense_Mutation_p.W425S	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	428	Thioredoxin 2.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCCCTGCCTGGGAGGCATTG	0.627													17	36					0	0	0	0	C	336596	G	C	336596	3	2	178	1	0	0	0	0	1	0	0	0	11739	1357	47	4	1317	4	PDIA2	16	336596	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08		336596	90018157	353	31337											
FBXL16	146330	broad.mit.edu	37	chr16	745766	745766	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttgggcagcagctgcGagatggccgcgatggcgtcg	6	6	18	11	5	0	1	0	0	0	1	1	3	0	1	2	4	3	4	2	4	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:745766G>T	ENST00000397621.1	-	3	1122	c.791C>A	c.(790-792)tCg>tAg	p.S264*	FBXL16_ENST00000324361.5_Nonsense_Mutation_p.S264*|FBXL16_ENST00000562563.1_Nonsense_Mutation_p.S52*	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	264										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CAGCAGCTGCGAGATGGCCGC	0.692													7	20					0.000673444	0.000685431	1	0	T	745766	G	T	745766	4	4	178	1	0	0	0	0	0	1	0	0	5757	1059	37	3	664	3	FBXL16	16	745766	Nonsense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	409170	745766	89608987	354	31338											
RPL3L	6123	broad.mit.edu	37	chr16	1996986	1996986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagcccttctgcccggcccGagcaatggagcagcccacgc	8	5	11	17	3	1	0	0	0	1	0	1	2	1	1	4	2	5	2	4	2	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:1996986G>A	ENST00000268661.7	-	6	896	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	268					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCCCGGCCCGAGCAATGGAG	0.672													30	68					0	0	0	0	A	1996986	G	A	1996986	3	1	178	1	0	0	0	0	1	0	0	0	13679	1057	37	1	441	1	RPL3L	16	1996986	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1251220	1996986	88357767	355	31339											
PKD1	5310	broad.mit.edu	37	chr16	2153846	2153846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgactcggctcccagctCtgagggctgtggtgcccgca	4	9	15	13	2	1	2	0	2	1	0	3	2	2	2	2	4	2	4	2	4	0	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:2153846C>G	ENST00000262304.4	-	23	8420	c.8212G>C	c.(8212-8214)Gag>Cag	p.E2738Q	PKD1_ENST00000423118.1_Missense_Mutation_p.E2738Q|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2738	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTCCCAGCTCTGAGGGCTGT	0.642													4	10					0	0	0	0	G	2153846	C	G	2153846	3	3	178	1	0	0	0	0	1	0	0	0	12035	922	32	2	4795	2	PKD1	16	2153846	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	156860	2153846	88200907	356	31340											
ABCA3	21	broad.mit.edu	37	chr16	2334310	2334310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagtagtgggcggcgacctCggaggaggtgcagtacctcc	7	6	17	11	3	0	0	0	0	0	0	2	3	1	2	3	5	2	4	3	5	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:2334310C>T	ENST00000301732.5	-	25	4532	c.3832G>A	c.(3832-3834)Gag>Aag	p.E1278K	ABCA3_ENST00000382381.3_Missense_Mutation_p.E1220K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1278					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GCGGCGACCTCGGAGGAGGTG	0.622													22	34					0	0	0	0	T	2334310	C	T	2334310	3	4	178	1	0	0	0	0	1	0	0	0	33	893	31	1	1318	1	ABCA3	16	2334310	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	180464	2334310	88020443	357	31341											
PRSS27	83886	broad.mit.edu	37	chr16	2764177	2764177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaattggtgaagggcactgGtgcctccagctccaccaggg	8	8	14	11	0	0	1	0	1	0	0	2	1	2	1	4	4	2	3	4	4	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:2764177G>C	ENST00000302641.3	-	4	451	c.397C>G	c.(397-399)Cca>Gca	p.P133A		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	133	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						AAGGGCACTGGTGCCTCCAGC	0.647													23	26					0	0	0	0	C	2764177	G	C	2764177	3	2	178	1	0	0	0	0	1	0	0	0	12700	1261	44	4	487	4	PRSS27	16	2764177	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	429867	2764177	87590576	358	31342											
CREBBP	1387	broad.mit.edu	37	chr16	3779048	3779048	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttgggtcggggcacattCaggctcacgggggccatctg	5	9	17	10	2	3	0	2	0	1	0	4	0	3	0	1	7	0	3	1	7	0	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:3779048C>T	ENST00000262367.5	-	31	6809	c.6000G>A	c.(5998-6000)ctG>ctA	p.L2000L	CREBBP_ENST00000382070.3_Silent_p.L1962L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2000					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGGCACATTCAGGCTCACGG	0.692			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						7	4					0	0	0	0	T	3779048	C	T	3779048	2	4	178	1	0	0	0	0	0	0	0	1	3891	813	29	2		2	CREBBP	16	3779048	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1014871	3779048	86575705	359	31343											
LITAF	9516	broad.mit.edu	37	chr16	11643571	11643571	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgcagggcatccacgcaGaaggggatgaagcagcagcc	11	4	14	12	1	0	2	0	1	0	1	2	3	2	3	3	3	4	5	3	3	2	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:11643571G>C	ENST00000571688.1	-	4	638	c.408C>G	c.(406-408)ttC>ttG	p.F136L	LITAF_ENST00000572255.1_Missense_Mutation_p.F43L|LITAF_ENST00000571459.1_3'UTR|LITAF_ENST00000570904.1_Missense_Mutation_p.F136L|LITAF_ENST00000574763.1_Missense_Mutation_p.F136L|LITAF_ENST00000381810.3_Missense_Mutation_p.L137V|LITAF_ENST00000576036.1_Missense_Mutation_p.F136L|LITAF_ENST00000339430.5_Missense_Mutation_p.F136L|LITAF_ENST00000413364.2_3'UTR	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	136					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						CATCCACGCAGAAGGGGATGA	0.582													11	13					0	0	0	0	C	11643571	G	C	11643571	3	2	178	1	0	0	0	0	1	0	0	0	8885	933	33	2	81	2	LITAF	16	11643571	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	7864523	11643571	78711182	360	31344											
TXNDC11	51061	broad.mit.edu	37	chr16	11773491	11773491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgctggaggctgcttatttCtgctctcagtttctggatct	4	17	10	10	1	4	0	1	0	4	0	6	2	4	2	0	3	2	5	0	3	1	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:11773491C>T	ENST00000356957.3	-	13	2625	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.E813K			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	840					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTGCTTATTTCTGCTCTCAGT	0.597													20	39					0	0	0	0	T	11773491	C	T	11773491	3	4	178	1	0	0	0	0	1	0	0	0	16888	922	32	2	443	2	TXNDC11	16	11773491	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	129920	11773491	78581262	361	31345											
MYH11	4629	broad.mit.edu	37	chr16	15917115	15917115	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctgagttcactcaccttGaagcatgctccggtaggccg	7	9	11	14	2	2	2	2	2	0	0	3	2	3	2	4	2	2	4	4	2	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:15917115G>A	ENST00000338282.6	-	3	605	c.499C>T	c.(499-501)Caa>Taa	p.Q167*	MYH11_ENST00000396324.3_Nonsense_Mutation_p.Q167*|MYH11_ENST00000452625.2_Nonsense_Mutation_p.Q167*|MYH11_ENST00000576790.1_Nonsense_Mutation_p.Q167*|MYH11_ENST00000300036.5_Nonsense_Mutation_p.Q167*	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	167	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CACTCACCTTGAAGCATGCTC	0.592			T	CBFB	AML								25	51					0	0	0	0	A	15917115	G	A	15917115	4	1	178	1	0	0	0	0	0	1	0	0	10101	1299	45	2	5635	2	MYH11	16	15917115	Nonsense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	4143624	15917115	74437638	362	31346											
DNAH3	55567	broad.mit.edu	37	chr16	20952835	20952835	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctctgggaagcttggagaGaatgtcttgtgccaactcct	8	12	12	9	0	2	1	0	0	2	1	4	4	3	3	2	2	3	1	2	2	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:20952835G>C	ENST00000261383.3	-	59	11541	c.11542C>G	c.(11542-11544)Ctc>Gtc	p.L3848V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3848					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCTTGGAGAGAATGTCTTGT	0.478													56	151					0	0	0	0	C	20952835	G	C	20952835	3	2	178	1	0	0	0	0	1	0	0	0	4640	942	33	2	823	2	DNAH3	16	20952835	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	5035720	20952835	69401918	363	31347											
ARHGAP17	55114	broad.mit.edu	37	chr16	24950913	24950913	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagtccataagcttcacaCcaaagctacacagagagaag	17	5	9	10	0	1	2	1	0	0	2	2	4	2	3	2	1	3	2	2	1	5	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:24950913C>G	ENST00000289968.6	-	17	1565	c.1496G>C	c.(1495-1497)gGt>gCt	p.G499A	ARHGAP17_ENST00000303665.5_Intron|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	499					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AAGCTTCACACCAAAGCTACA	0.537													15	9					0	0	0	0	G	24950913	C	G	24950913	3	3	178	1	0	0	0	0	1	0	0	0	869	507	18	4	1165	4	ARHGAP17	16	24950913	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	3998078	24950913	65403840	364	31348											
HIRIP3	8479	broad.mit.edu	37	chr16	30006744	30006744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtggctgcggcccgagtGagctaagtacctccgccgca	7	6	14	14	4	0	1	0	1	0	0	1	2	1	1	4	3	3	4	4	3	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:30006744G>T	ENST00000279392.3	-	2	936	c.106C>A	c.(106-108)Cac>Aac	p.H36N	INO80E_ENST00000563197.1_5'UTR|HIRIP3_ENST00000564026.1_Missense_Mutation_p.H36N|HIRIP3_ENST00000566471.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	36					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CGGCCCGAGTGAGCTAAGTAC	0.662													19	52					8.28177e-16	8.81427e-16	1	0	T	30006744	G	T	30006744	3	4	178	1	0	0	0	0	1	0	0	0	7171	1290	45	2	1588	2	HIRIP3	16	30006744	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	5055831	30006744	60348009	365	31349											
N4BP1	9683	broad.mit.edu	37	chr16	48595137	48595137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtttgaaccccagacttCatgtttctgttctattggca	7	16	8	10	0	3	2	1	1	2	1	3	2	3	2	2	2	1	4	2	2	2	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:48595137C>T	ENST00000262384.3	-	2	1653	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	473					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CCCCAGACTTCATGTTTCTGT	0.383													30	58					0	0	0	0	T	48595137	C	T	48595137	3	4	178	1	0	0	0	0	1	0	0	0	10179	835	29	2	1297	2	N4BP1	16	48595137	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	18588393	48595137	41759616	366	31350											
N4BP1	9683	broad.mit.edu	37	chr16	48595296	48595296	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggaatcagttgtaagctCatttgtgctgctataaacac	12	13	9	7	0	2	0	2	0	0	0	2	1	2	1	0	1	4	5	0	1	5	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:48595296C>A	ENST00000262384.3	-	2	1494	c.1258G>T	c.(1258-1260)Gag>Tag	p.E420*	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	420					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GTTGTAAGCTCATTTGTGCTG	0.363													27	40					7.41945e-09	7.68836e-09	1	0	A	48595296	C	A	48595296	4	1	178	1	0	0	0	0	0	1	0	0	10179	835	29	2	1456	2	N4BP1	16	48595296	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	159	48595296	41759457	367	31351											
ADCY7	113	broad.mit.edu	37	chr16	50325658	50325658	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catccacaggtgcccttcttCctgttcattgtcttcgtggt	4	16	8	13	1	3	0	1	0	2	0	6	0	5	0	3	2	1	1	3	2	0	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:50325658C>T	ENST00000394697.2	+	4	727	c.387C>T	c.(385-387)ttC>ttT	p.F129F	ADCY7_ENST00000566433.2_Silent_p.F129F|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000538642.1_Silent_p.F129F|ADCY7_ENST00000537579.1_Silent_p.F129F|ADCY7_ENST00000254235.3_Silent_p.F129F			P51828	ADCY7_HUMAN	adenylate cyclase 7	129					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGCCCTTCTTCCTGTTCATTG	0.657													4	19					0	0	0	0	T	50325658	C	T	50325658	2	4	178	1	0	0	0	0	0	0	0	1	299	854	30	2		2	ADCY7	16	50325658	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1730362	50325658	40029095	368	31352											
SALL1	6299	broad.mit.edu	37	chr16	51174620	51174620	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataggggttcatctggatatGagggtatttctctttgtggc	7	16	13	5	0	3	1	1	1	2	0	4	2	3	2	0	5	0	2	0	5	3	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:51174620G>C	ENST00000440970.1	-	2	1653	c.1222C>G	c.(1222-1224)Cat>Gat	p.H408D	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.H505D|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	505					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATCTGGATATGAGGGTATTTC	0.512													41	74					0	0	0	0	C	51174620	G	C	51174620	3	2	178	1	0	0	0	0	1	0	0	0	13895	1290	45	2	2469	2	SALL1	16	51174620	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	848962	51174620	39180133	369	31353											
BBS2	583	broad.mit.edu	37	chr16	56536599	56536599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttactttccccatccactGagcagcagattaactgtatg	11	13	6	11	0	0	2	0	1	0	1	2	2	2	2	3	0	4	3	3	0	3	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:56536599G>A	ENST00000245157.5	-	8	1346	c.926C>T	c.(925-927)tCa>tTa	p.S309L	BBS2_ENST00000568104.1_Missense_Mutation_p.S309L|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	309					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CCCATCCACTGAGCAGCAGAT	0.408									Bardet-Biedl syndrome				43	86					0	0	0	0	A	56536599	G	A	56536599	3	1	178	1	0	0	0	0	1	0	0	0	1342	1294	45	2	1279	2	BBS2	16	56536599	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	5361979	56536599	33818154	370	31354											
RSPRY1	89970	broad.mit.edu	37	chr16	57238671	57238671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcccacttcctagggactgGaggtgccgctactaccatgg	8	8	12	13	1	0	0	0	0	0	0	1	2	1	2	4	4	4	1	4	4	3	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:57238671G>A	ENST00000537866.1	+	2	974	c.101G>A	c.(100-102)gGa>gAa	p.G34E	RSPRY1_ENST00000394420.4_Missense_Mutation_p.G34E			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	34						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CTAGGGACTGGAGGTGCCGCT	0.532													88	132					0	0	0	0	A	57238671	G	A	57238671	3	1	178	1	0	0	0	0	1	0	0	0	13798	1174	41	2	103	2	RSPRY1	16	57238671	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	702072	57238671	33116082	371	31355											
CNGB1	1258	broad.mit.edu	37	chr16	57954370	57954370	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctgtccgctccttgaaGagcttcaccagctcctggag	6	12	9	14	1	2	2	1	1	1	1	6	3	5	3	4	1	2	3	4	1	1	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:57954370G>C	ENST00000564448.1	-	19	1764	c.1704C>G	c.(1702-1704)ctC>ctG	p.L568L	CNGB1_ENST00000251102.8_Silent_p.L574L			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	574					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCTCCTTGAAGAGCTTCACCA	0.592													40	40					0	0	0	0	C	57954370	G	C	57954370	2	2	178	1	0	0	0	0	0	0	0	1	3630	929	33	2		2	CNGB1	16	57954370	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	715699	57954370	32400383	372	31356											
CCDC113	29070	broad.mit.edu	37	chr16	58301439	58301439	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacaaggagatcttgctGagaaaagagctacttgaaaa	16	8	11	6	0	1	4	0	2	1	3	1	7	1	5	0	2	3	2	0	2	6	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:58301439G>T	ENST00000219299.4	+	7	919	c.840G>T	c.(838-840)ctG>ctT	p.L280L	CCDC113_ENST00000443128.2_Silent_p.L226L	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	280						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGATCTTGCTGAGAAAAGAGC	0.383													32	53					1.56442e-22	1.70246e-22	1	0	T	58301439	G	T	58301439	2	4	178	1	0	0	0	0	0	0	0	1	2775	1277	45	2		2	CCDC113	16	58301439	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	347069	58301439	32053314	373	31357											
CMTM2	146225	broad.mit.edu	37	chr16	66620961	66620961	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccgtggtctttgctgtgaGaagtcggcgatccatgaatc	8	11	13	9	3	1	2	0	2	1	1	4	4	2	2	2	2	2	1	2	2	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:66620961G>C	ENST00000268595.2	+	3	657	c.506G>C	c.(505-507)aGa>aCa	p.R169T	CMTM2_ENST00000379486.2_Missense_Mutation_p.R116T	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	169	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		TTTGCTGTGAGAAGTCGGCGA	0.517													37	85					0	0	0	0	C	66620961	G	C	66620961	3	2	178	1	0	0	0	0	1	0	0	0	3613	942	33	2	516	2	CMTM2	16	66620961	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	8319522	66620961	23733792	374	31358											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67861873	67861873	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acatcaggcgtgtgggacctCgagagccagagcctgcaagc	10	5	14	12	2	1	2	1	0	0	2	2	4	1	3	3	2	4	1	3	2	1	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:67861873C>G	ENST00000388833.3	+	16	2331	c.1954C>G	c.(1954-1956)Cga>Gga	p.R652G	TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.R637G|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R706G	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	652					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TGTGGGACCTCGAGAGCCAGA	0.537													36	74					0	0	0	0	G	67861873	C	G	67861873	3	3	178	1	0	0	0	0	1	0	0	0	16727	876	31	3	2008	3	TSNAXIP1	16	67861873	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1240912	67861873	22492880	375	31359											
LCAT	3931	broad.mit.edu	37	chr16	67974294	67974294	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcaggccacgccatgcgaGagggaaacatccagggggag	11	3	15	12	2	1	1	1	0	0	1	2	4	2	3	4	4	2	0	4	4	1	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:67974294G>C	ENST00000264005.5	-	6	865	c.836C>G	c.(835-837)tCt>tGt	p.S279C		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	279					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CGCCATGCGAGAGGGAAACAT	0.552													34	76					0	0	0	0	C	67974294	G	C	67974294	3	2	178	1	0	0	0	0	1	0	0	0	8711	942	33	2	490	2	LCAT	16	67974294	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	112421	67974294	22380459	376	31360											
SLC12A4	6560	broad.mit.edu	37	chr16	67985730	67985730	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggagggaggacccaccctgGagcacaccagcagctgcccc	9	2	14	16	0	0	0	0	0	0	0	0	4	0	4	5	4	4	3	5	4	0	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:67985730G>C	ENST00000422611.2	-	7	1173	c.1134C>G	c.(1132-1134)ctC>ctG	p.L378L	SLC12A4_ENST00000572037.1_Silent_p.L328L|SLC12A4_ENST00000338335.3_Silent_p.L376L|SLC12A4_ENST00000576616.1_Silent_p.L376L|SLC12A4_ENST00000537830.2_Silent_p.L370L|SLC12A4_ENST00000541864.2_Silent_p.L345L|SLC12A4_ENST00000316341.3_Silent_p.L376L	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	376					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACCCACCCTGGAGCACACCAG	0.632													8	14					0	0	0	0	C	67985730	G	C	67985730	2	2	178	1	0	0	0	0	0	0	0	1	14473	1161	41	2		2	SLC12A4	16	67985730	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	11436	67985730	22369023	377	31361											
NFATC3	4775	broad.mit.edu	37	chr16	68217146	68217146	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctttccatccttaggctCacattgtccttgaagttcct	6	17	6	12	0	1	1	1	1	0	0	5	1	5	1	4	1	1	3	4	1	2	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:68217146C>G	ENST00000349223.5	+	8	2199	c.1975C>G	c.(1975-1977)Cac>Gac	p.H659D	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.H659D|NFATC3_ENST00000329524.4_Missense_Mutation_p.H659D|NFATC3_ENST00000575270.1_Missense_Mutation_p.H659D	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	659					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCCTTAGGCTCACATTGTCCT	0.418													44	95					0	0	0	0	G	68217146	C	G	68217146	3	3	178	1	0	0	0	0	1	0	0	0	10434	826	29	2	2005	2	NFATC3	16	68217146	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	231416	68217146	22137607	378	31362											
ATP2C2	9914	broad.mit.edu	37	chr16	84444203	84444203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcgtggtcactgtcgccttCatccaggtgagtatttcctg	5	14	11	11	2	2	1	2	1	0	0	6	1	4	1	3	2	0	1	3	2	1	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:84444203C>T	ENST00000416219.2	+	5	536	c.447C>T	c.(445-447)ttC>ttT	p.F149F	ATP2C2_ENST00000262429.4_Silent_p.F149F|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	149					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGTCGCCTTCATCCAGGTGA	0.582													46	38					0	0	0	0	T	84444203	C	T	84444203	2	4	178	1	0	0	0	0	0	0	0	1	1148	825	29	2		2	ATP2C2	16	84444203	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	16227057	84444203	5910550	379	31363											
FBXO31	79791	broad.mit.edu	37	chr16	87369778	87369778	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactcgtactgactggtgtaGatgaacttcatcaggatgag	11	11	11	8	1	2	4	2	3	0	1	3	5	2	5	0	2	2	2	0	2	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:87369778G>C	ENST00000311635.7	-	6	837	c.825C>G	c.(823-825)atC>atG	p.I275M		NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	275					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GACTGGTGTAGATGAACTTCA	0.617													12	17					0	0	0	0	C	87369778	G	C	87369778	3	2	178	1	0	0	0	0	1	0	0	0	5786	932	33	2	810	2	FBXO31	16	87369778	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2925575	87369778	2984975	380	31364											
CBFA2T3	863	broad.mit.edu	37	chr16	88947816	88947816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcccagtggttgagctcctCgcggtcggcctcctggcacc	3	8	13	17	4	0	1	0	1	0	0	4	1	2	1	5	4	1	3	5	4	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:88947816C>T	ENST00000268679.4	-	9	1681	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	CBFA2T3_ENST00000448839.1_Missense_Mutation_p.E353K|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.E391K|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.E343K|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.E343K|RP11-830F9.5_ENST00000562574.1_RNA|RP11-830F9.5_ENST00000562405.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	429	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).		E -> G (in dbSNP:rs1053526).		cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TTGAGCTCCTCGCGGTCGGCC	0.736			T	RUNX1	AML								6	3					0	0	0	0	T	88947816	C	T	88947816	3	4	178	1	0	0	0	0	1	0	0	0	2723	893	31	1	692	1	CBFA2T3	16	88947816	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1578038	88947816	1406937	381	31365											
VPS53	55275	broad.mit.edu	37	chr17	463774	463774	+	Silent	SNP	G	G	A																															gagccctccttttccttgagGaggctgctgatagtcagtcc																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:463774G>A	ENST00000437048.2	-	15	1742	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	VPS53_ENST00000291074.5_Silent_p.L503L|VPS53_ENST00000401468.3_Silent_p.L255L|VPS53_ENST00000571805.1_Silent_p.L532L|VPS53_ENST00000446250.2_Silent_p.L334L|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	532					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TTTCCTTGAGGAGGCTGCTGA	0.498													3	35					0	0	0	0	A	463774	G	A	463774	2	1	178	1	0	0	0	0	0	0	0	1	17311	1161	41	2		2	VPS53	17	463774	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08		463774	80731436	382	31366	239	2									
VPS53	55275	broad.mit.edu	37	chr17	463775	463775	+	Missense_Mutation	SNP	A	A	T																															agccctccttttccttgaggAggctgctgatagtcagtcct																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:463775A>T	ENST00000437048.2	-	15	1741	c.1595T>A	c.(1594-1596)cTc>cAc	p.L532H	VPS53_ENST00000291074.5_Missense_Mutation_p.L503H|VPS53_ENST00000401468.3_Missense_Mutation_p.L255H|VPS53_ENST00000571805.1_Missense_Mutation_p.L532H|VPS53_ENST00000446250.2_Missense_Mutation_p.L334H|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	532					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TTCCTTGAGGAGGCTGCTGAT	0.498													3	35					0	0	0	0	T	463775	A	T	463775	3	4	178	1	0	0	0	0	1	0	0	0	17311	304	11	5	950	5	VPS53	17	463775	Missense_Mutation	SNP	A	TCGA-CR-6472-01A-11D-1870-08	1	463775	80731435	383	31367	239	2									
GLOD4	51031	broad.mit.edu	37	chr17	685477	685477	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactttgaatacgaagtgcaGagctctgcgagcagccatga	12	8	11	10	2	1	3	0	2	1	1	1	5	1	3	1	0	6	3	1	0	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:685477G>A	ENST00000301329.6	-	1	104	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	GLOD4_ENST00000536578.1_5'UTR|GLOD4_ENST00000301328.5_Silent_p.L7L	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	7						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACGAAGTGCAGAGCTCTGCGA	0.667													8	8					0	0	0	0	A	685477	G	A	685477	2	1	178	1	0	0	0	0	0	0	0	1	6501	933	33	2		2	GLOD4	17	685477	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	221702	685477	80509733	384	31368											
RNMTL1	55178	broad.mit.edu	37	chr17	685930	685930	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcccggggacaggaggctGaggtgatgtggttcttgagc	7	10	17	7	1	1	3	0	3	1	0	2	5	2	5	1	6	1	2	1	6	1	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:685930G>T	ENST00000304478.4	+	1	418	c.312G>T	c.(310-312)ctG>ctT	p.L104L		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	104					RNA processing		protein binding|RNA binding|RNA methyltransferase activity	p.L104L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		ACAGGAGGCTGAGGTGATGTG	0.572													6	6					0.00116845	0.0011835	1	0	T	685930	G	T	685930	2	4	178	1	0	0	0	0	0	0	0	1	13592	1277	45	2		2	RNMTL1	17	685930	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	453	685930	80509280	385	31369											
ITGAE	3682	broad.mit.edu	37	chr17	3658507	3658507	+	Frame_Shift_Del	DEL	C	C	-																															gcgtgtgtcgtagagcaacgCccctccggaccagtcaaagg																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:3658507delC	ENST00000263087.4	-	12	1386	c.1288delG	c.(1288-1290)cgfs	p.A430fs		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	430					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TAGAGCAACGCCCCTCCGGAC	0.716													5	4	---	---	---	---					-	3658507	C	-	3658507	7	5	178	1	0	1	0	1	0	0	0	0	7938	739	26	0	2331	0	ITGAE	17	3658507	Frame_Shift_Del	DEL	C	TCGA-CR-6472-01A-11D-1870-08	2972577	3658507	77536703	386	31370											
MED11	400569	broad.mit.edu	37	chr17	4636382	4636382	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatgagggctccagctactCttcgaggaaggactgtcaga	10	8	12	11	1	2	2	1	1	1	1	4	5	3	4	2	3	2	2	2	3	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:4636382C>G	ENST00000293777.5	+	3	310	c.254C>G	c.(253-255)tCt>tGt	p.S85C	MED11_ENST00000575284.1_3'UTR	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	85					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(2)	4						TCCAGCTACTCTTCGAGGAAG	0.552													35	19					0	0	0	0	G	4636382	C	G	4636382	3	3	178	1	0	0	0	0	1	0	0	0	9496	913	32	2	264	2	MED11	17	4636382	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	977875	4636382	76558828	387	31371											
EIF4A1	1973	broad.mit.edu	37	chr17	7481674	7481674	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttccagaatcggtcgaggtgGacggtttggccgtaaaggtg	8	10	16	7	4	0	1	0	0	0	1	3	3	1	2	2	6	0	2	2	6	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:7481674G>C	ENST00000293831.8	+	11	1107	c.1091G>C	c.(1090-1092)gGa>gCa	p.G364A	EIF4A1_ENST00000577269.1_Missense_Mutation_p.W343C|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.W337C	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	364	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GGTCGAGGTGGACGGTTTGGC	0.507													4	102					0	0	0	0	C	7481674	G	C	7481674	3	2	178	1	0	0	0	0	1	0	0	0	5062	1174	41	2	1133	2	EIF4A1	17	7481674	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2845292	7481674	73713536	388	31372											
MYH10	4628	broad.mit.edu	37	chr17	8379172	8379172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacatcactggtcttactttCtgtgtcatcgtcggagagct	7	14	10	10	2	4	1	2	0	2	1	6	3	4	1	0	2	2	1	0	2	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:8379172C>G	ENST00000360416.3	-	43	6112	c.5974G>C	c.(5974-5976)Gaa>Caa	p.E1992Q	MYH10_ENST00000379980.4_Missense_Mutation_p.E1977Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1961Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1982Q|NDEL1_ENST00000299734.7_Intron	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1961					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GTCTTACTTTCTGTGTCATCG	0.582													88	61					0	0	0	0	G	8379172	C	G	8379172	3	3	178	1	0	0	0	0	1	0	0	0	10100	922	32	2	53	2	MYH10	17	8379172	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	897498	8379172	72816038	389	31373											
MYH10	4628	broad.mit.edu	37	chr17	8393817	8393817	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcctccagctgggtcctCatttcctccacctgctgctc	4	12	7	18	0	1	0	1	0	0	0	7	0	6	0	6	1	4	4	6	1	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:8393817C>G	ENST00000360416.3	-	35	4863	c.4725G>C	c.(4723-4725)atG>atC	p.M1575I	MYH10_ENST00000379980.4_Missense_Mutation_p.M1560I|MYH10_ENST00000269243.4_Missense_Mutation_p.M1544I|MYH10_ENST00000396239.1_Missense_Mutation_p.M1565I	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1544					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GCTGGGTCCTCATTTCCTCCA	0.557													36	32					0	0	0	0	G	8393817	C	G	8393817	3	3	178	1	0	0	0	0	1	0	0	0	10100	826	29	2	1334	2	MYH10	17	8393817	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	14645	8393817	72801393	390	31374											
FLOT2	2319	broad.mit.edu	37	chr17	27208935	27208935	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acgcaggatctcctgtgcctCcacggcaatctgtttcttgc	6	12	9	14	2	3	0	0	0	3	0	5	1	4	1	3	2	2	3	3	2	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:27208935C>G	ENST00000394906.2	-	10	1053	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	FLOT2_ENST00000394908.4_Missense_Mutation_p.E271Q|FLOT2_ENST00000585169.1_Missense_Mutation_p.E271Q|FLOT2_ENST00000577789.1_5'UTR			Q14254	FLOT2_HUMAN	flotillin 2	271					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TCCTGTGCCTCCACGGCAATC	0.612													21	43					0	0	0	0	G	27208935	C	G	27208935	3	3	178	1	0	0	0	0	1	0	0	0	5982	864	30	2	491	2	FLOT2	17	27208935	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	18815118	27208935	53986275	391	31375											
EFCAB5	374786	broad.mit.edu	37	chr17	28361326	28361326	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttgccactctgcagatGaatttcgggaggtcataaaa	12	11	9	9	1	2	2	1	1	1	1	3	3	2	3	2	2	2	1	2	2	3	3	rs11365297		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:28361326G>T	ENST00000394835.3	+	8	1315	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.E319*|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.E375*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.E375*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.E375*|EFCAB5_ENST00000541045.1_Nonsense_Mutation_p.E32*	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	375							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTCTGCAGATGAATTTCGGGA	0.413													12	38					3.07112e-06	3.15643e-06	1	0	T	28361326	G	T	28361326	4	4	178	1	0	0	0	0	0	1	0	0	4974	1291	45	2	1153	2	EFCAB5	17	28361326	Nonsense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1152391	28361326	52833884	392	31376											
ATAD5	79915	broad.mit.edu	37	chr17	29185216	29185216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaatttactgaagaagtaaGaaatcttttgcttgaggaaa	16	12	10	3	0	1	4	0	2	1	2	1	6	1	6	0	2	2	2	0	2	7	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:29185216G>C	ENST00000321990.4	+	9	3209	c.2831G>C	c.(2830-2832)aGa>aCa	p.R944T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	944					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAGAAGTAAGAAATCTTTTG	0.303													24	34					0	0	0	0	C	29185216	G	C	29185216	3	2	178	1	0	0	0	0	1	0	0	0	1080	942	33	2	2865	2	ATAD5	17	29185216	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	823890	29185216	52009994	393	31377											
CACNB1	782	broad.mit.edu	37	chr17	37340341	37340341	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtttgctggggttgttgaGaactgagcgcttagccaggg	6	12	17	6	1	0	2	0	2	0	1	0	3	0	2	1	3	4	5	1	3	2	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:37340341G>C	ENST00000394303.3	-	10	1048	c.841C>G	c.(841-843)Ctc>Gtc	p.L281V	CACNB1_ENST00000394310.3_Missense_Mutation_p.L281V|CACNB1_ENST00000344140.5_Missense_Mutation_p.L326V	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	281					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GGGTTGTTGAGAACTGAGCGC	0.582													22	36					0	0	0	0	C	37340341	G	C	37340341	3	2	178	1	0	0	0	0	1	0	0	0	2577	942	33	2	1080	2	CACNB1	17	37340341	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	8155125	37340341	43854869	394	31378											
RAPGEFL1	51195	broad.mit.edu	37	chr17	38347604	38347604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtgttccacggggagcgcGgccgccgggagacggccaac	7	3	17	14	7	0	1	0	0	0	1	1	3	1	2	4	5	2	1	4	5	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:38347604G>A	ENST00000436615.3	+	9	1244	c.754G>A	c.(754-756)Ggc>Agc	p.G252S	RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.G252S|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.G301S|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.G307S	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	458					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGGGGAGCGCGGCCGCCGGGA	0.711													9	9					0	0	0	0	A	38347604	G	A	38347604	3	1	178	1	0	0	0	0	1	0	0	0	13131	1116	39	1	780	1	RAPGEFL1	17	38347604	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1007263	38347604	42847606	395	31379											
KRT38	8687	broad.mit.edu	37	chr17	39595601	39595601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctggcgcagggagcgctCactctccagcctttcatcac	7	8	10	16	2	4	0	3	0	1	0	5	1	4	1	2	2	3	3	2	2	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:39595601C>T	ENST00000246646.3	-	3	585	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	196	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AGGGAGCGCTCACTCTCCAGC	0.622													22	46					0	0	0	0	T	39595601	C	T	39595601	3	4	178	1	0	0	0	0	1	0	0	0	8527	835	29	2	804	2	KRT38	17	39595601	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1247997	39595601	41599609	396	31380											
KRT17	3872	broad.mit.edu	37	chr17	39780615	39780615	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctacccccgagggtgctGcccaggccgccagcagatcc	6	5	12	18	2	0	1	0	0	0	1	1	2	1	1	6	2	5	3	6	2	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:39780615G>A	ENST00000311208.8	-	1	214	c.147C>T	c.(145-147)ggC>ggT	p.G49G	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	49	Head.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CGAGGGTGCTGCCCAGGCCGC	0.701													12	18					0	0	0	0	A	39780615	G	A	39780615	2	1	178	1	0	0	0	0	0	0	0	1	8506	1306	46	4		4	KRT17	17	39780615	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	185014	39780615	41414595	397	31381											
FAM134C	162427	broad.mit.edu	37	chr17	40733894	40733894	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggtccagaagttcaaaGtcatccccctcagcatcagt	11	9	8	13	0	4	1	4	0	0	1	6	2	6	1	3	1	1	2	3	1	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:40733894G>C	ENST00000309428.5	-	9	1397	c.1338C>G	c.(1336-1338)gaC>gaG	p.D446E	FAM134C_ENST00000543197.1_Missense_Mutation_p.D251E|FAM134C_ENST00000585894.1_Missense_Mutation_p.D349E	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	446						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GAAGTTCAAAGTCATCCCCCT	0.587													22	32					0	0	0	0	C	40733894	G	C	40733894	3	2	178	1	0	0	0	0	1	0	0	0	5488	1020	36	4	66	4	FAM134C	17	40733894	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	953279	40733894	40461316	398	31382											
FAM134C	162427	broad.mit.edu	37	chr17	40734073	40734073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggttggatcctacaggaaGagcaccaagcaggagctccg	12	5	14	10	1	0	1	0	0	0	1	2	5	2	4	3	4	4	4	3	4	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:40734073G>A	ENST00000309428.5	-	9	1218	c.1159C>T	c.(1159-1161)Ctt>Ttt	p.L387F	FAM134C_ENST00000543197.1_Missense_Mutation_p.L192F|FAM134C_ENST00000585894.1_Missense_Mutation_p.L290F	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	387						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CCTACAGGAAGAGCACCAAGC	0.657													35	55					0	0	0	0	A	40734073	G	A	40734073	3	1	178	1	0	0	0	0	1	0	0	0	5488	942	33	2	245	2	FAM134C	17	40734073	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	179	40734073	40461137	399	31383											
NAGS	162417	broad.mit.edu	37	chr17	42084746	42084746	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgggtgcgcagcctggaCaagctggaccagggccgtct	7	6	15	13	3	1	0	0	0	1	0	1	2	1	2	3	4	4	2	3	4	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:42084746C>G	ENST00000293404.3	+	5	1270	c.1152C>G	c.(1150-1152)gaC>gaG	p.D384E		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	384	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	GCAGCCTGGACAAGCTGGACC	0.662											OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	32					0	0	0	0	G	42084746	C	G	42084746	3	3	178	1	0	0	0	0	1	0	0	0	10215	477	17	4	1170	4	NAGS	17	42084746	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1350673	42084746	39110464	400	31384											
SLC4A1	6521	broad.mit.edu	37	chr17	42338013	42338013	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggctcacccttggtgaaGactctacgcagctctaggag	9	8	13	11	1	3	2	1	1	2	1	3	4	3	4	1	4	2	3	1	4	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:42338013G>C	ENST00000262418.6	-	5	494	c.339C>G	c.(337-339)gtC>gtG	p.V113V	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'UTR	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	113					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTTGGTGAAGACTCTACGCA	0.642													23	28					0	0	0	0	C	42338013	G	C	42338013	2	2	178	1	0	0	0	0	0	0	0	1	14738	929	33	2		2	SLC4A1	17	42338013	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	253267	42338013	38857197	401	31385											
HEXIM2	124790	broad.mit.edu	37	chr17	43246753	43246753	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctacaacaccacccagttCctgatgaatgacagggaccc	12	6	7	16	0	0	3	0	3	0	0	1	4	1	4	5	1	2	1	5	1	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:43246753C>A	ENST00000307275.3	+	4	874	c.438C>A	c.(436-438)ttC>ttA	p.F146L	HEXIM2_ENST00000591576.1_Missense_Mutation_p.F146L|HEXIM2_ENST00000592695.1_Missense_Mutation_p.F146L|RP13-890H12.2_ENST00000589796.1_RNA	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	146					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						CCACCCAGTTCCTGATGAATG	0.632													18	29					2.39187e-15	2.53708e-15	1	0	A	43246753	C	A	43246753	3	1	178	1	0	0	0	0	1	0	0	0	7127	854	30	2	444	2	HEXIM2	17	43246753	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	908740	43246753	37948457	402	31386											
TTLL6	284076	broad.mit.edu	37	chr17	46862508	46862508	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcatttttcctttcacctCtgacactcaagagcaagtca	10	15	4	12	0	5	2	4	1	1	1	6	2	6	2	2	0	1	1	2	0	2	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:46862508C>G	ENST00000393382.3	-	13	1958	c.1817G>C	c.(1816-1818)aGa>aCa	p.R606T	TTLL6_ENST00000433608.2_Missense_Mutation_p.R299T	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	558						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCTTTCACCTCTGACACTCAA	0.527													37	63					0	0	0	0	G	46862508	C	G	46862508	3	3	178	1	0	0	0	0	1	0	0	0	16827	913	32	2	870	2	TTLL6	17	46862508	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	3615755	46862508	34332702	403	31387											
SNF8	11267	broad.mit.edu	37	chr17	47022055	47022055	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctcacctctgcaagtttCttcttggcgatggcgccagc	5	12	10	14	2	4	0	1	0	3	0	4	1	4	0	2	2	3	3	2	2	1	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:47022055C>G	ENST00000502492.1	-	1	424	c.42G>C	c.(40-42)aaG>aaC	p.K14N	SNF8_ENST00000290330.3_Missense_Mutation_p.K14N			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	14					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						CTGCAAGTTTCTTCTTGGCGA	0.687													86	128					0	0	0	0	G	47022055	C	G	47022055	3	3	178	1	0	0	0	0	1	0	0	0	14934	912	32	2	766	2	SNF8	17	47022055	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	159547	47022055	34173155	404	31388											
SPAG9	9043	broad.mit.edu	37	chr17	49054546	49054546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaagacaccataagagctGtaattctcacaaaagagaag	19	7	7	8	0	1	3	1	0	1	3	2	4	1	3	1	0	2	2	1	0	7	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:49054546G>C	ENST00000262013.7	-	27	3654	c.3446C>G	c.(3445-3447)aCa>aGa	p.T1149R	SPAG9_ENST00000505279.1_Missense_Mutation_p.T1139R|SPAG9_ENST00000357122.4_Missense_Mutation_p.T1135R|SPAG9_ENST00000510283.1_Missense_Mutation_p.T992R	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1149					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CATAAGAGCTGTAATTCTCAC	0.388													55	82					0	0	0	0	C	49054546	G	C	49054546	3	2	178	1	0	0	0	0	1	0	0	0	15075	1377	48	4	535	4	SPAG9	17	49054546	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2032491	49054546	32140664	405	31389											
TEX2	55852	broad.mit.edu	37	chr17	62290455	62290455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctatctctcttgtgggctCaccagtggactttgggtggt	4	16	12	9	0	4	0	1	0	3	0	5	1	4	1	1	4	0	1	1	4	1	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:62290455C>T	ENST00000258991.3	-	2	1207	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	TEX2_ENST00000584379.1_Missense_Mutation_p.E375K|TEX2_ENST00000583097.1_Missense_Mutation_p.E375K			Q8IWB9	TEX2_HUMAN	testis expressed 2	375					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTTGTGGGCTCACCAGTGGAC	0.483													41	109					0	0	0	0	T	62290455	C	T	62290455	3	4	178	1	0	0	0	0	1	0	0	0	15875	835	29	2	2325	2	TEX2	17	62290455	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	13235909	62290455	18904755	406	31390											
PRKAR1A	5573	broad.mit.edu	37	chr17	66524033	66524033	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaattccttagtaaagtctCtattttaggtgagttgtaaa	12	16	9	4	0	1	1	0	1	1	0	3	2	2	2	1	2	0	3	1	2	8	8			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:66524033C>G	ENST00000589228.1	+	8	889	c.761C>G	c.(760-762)tCt>tGt	p.S254C	PRKAR1A_ENST00000358598.2_Missense_Mutation_p.S254C|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.S254C|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.S254C|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.S254C|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.S254C	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	254					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)					AGTAAAGTCTCTATTTTAGGT	0.353			"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				29	77					0	0	0	0	G	66524033	C	G	66524033	3	3	178	1	0	0	0	0	1	0	0	0	12583	913	32	2	787	2	PRKAR1A	17	66524033	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	4233578	66524033	14671177	407	31391											
CDC42EP4	23580	broad.mit.edu	37	chr17	71281968	71281968	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccactcctccttgtccatGatgctgaggacgtcacccag	7	10	8	16	1	1	2	1	2	0	0	5	3	5	3	5	1	1	1	5	1	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:71281968G>A	ENST00000335793.3	-	2	1066	c.672C>T	c.(670-672)atC>atT	p.I224I	CDC42EP4_ENST00000439510.2_Silent_p.I154I|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	224					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCTTGTCCATGATGCTGAGGA	0.657													25	72					0	0	0	0	A	71281968	G	A	71281968	2	1	178	1	0	0	0	0	0	0	0	1	3107	1280	45	2		2	CDC42EP4	17	71281968	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	4757935	71281968	9913242	408	31392											
SDK2	54549	broad.mit.edu	37	chr17	71364591	71364591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggggtgctccgaggcccatCcccagcggcgttgaaggcgg	5	5	18	13	4	0	1	0	1	0	0	2	2	2	1	4	6	2	2	4	6	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:71364591C>T	ENST00000392650.3	-	37	5122	c.5122G>A	c.(5122-5124)Gat>Aat	p.D1708N	SDK2_ENST00000388726.3_Missense_Mutation_p.D1689N|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1708	Fibronectin type-III 11.				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						CGAGGCCCATCCCCAGCGGCG	0.647													3	21					0	0	0	0	T	71364591	C	T	71364591	3	4	178	1	0	0	0	0	1	0	0	0	14056	855	30	2	1432	2	SDK2	17	71364591	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	82623	71364591	9830619	409	31393											
SDK2	54549	broad.mit.edu	37	chr17	71415334	71415334	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taacccttgagaattccattCtggtggctctcaggaggcgg	8	11	12	10	1	2	1	1	1	2	1	4	3	3	2	2	5	1	1	2	5	2	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:71415334C>G	ENST00000392650.3	-	16	2157	c.2157G>C	c.(2155-2157)caG>caC	p.Q719H	SDK2_ENST00000388726.3_Missense_Mutation_p.Q719H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	719	Fibronectin type-III 2.				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						GAATTCCATTCTGGTGGCTCT	0.617													7	17					0	0	0	0	G	71415334	C	G	71415334	3	3	178	1	0	0	0	0	1	0	0	0	14056	912	32	2	4481	2	SDK2	17	71415334	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	50743	71415334	9779876	410	31394											
NT5C	30833	broad.mit.edu	37	chr17	73127368	73127368	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttcgtacacactggcCactttatcctgaaagacaag	11	9	10	11	1	0	2	0	1	0	1	2	2	1	2	2	3	1	2	2	3	4	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:73127368C>T	ENST00000245552.2	-	2	270	c.183G>A	c.(181-183)gtG>gtA	p.V61V	NT5C_ENST00000582160.1_5'UTR|NT5C_ENST00000582170.1_Silent_p.V61V|NT5C_ENST00000579082.1_5'UTR|NT5C_ENST00000578337.1_5'UTR	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	61					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			ACACACTGGCCACTTTATCCT	0.652													7	21					0	0	0	0	T	73127368	C	T	73127368	2	4	178	1	0	0	0	0	0	0	0	1	10755	581	21	4		4	NT5C	17	73127368	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1712034	73127368	8067842	411	31395											
ITGB4	3691	broad.mit.edu	37	chr17	73736024	73736024	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacctgatggcctctgaccActtggacacgcccatgctgc	8	8	10	15	1	1	2	0	2	1	0	1	4	1	3	4	2	3	1	4	2	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:73736024A>G	ENST00000200181.3	+	20	2505	c.2318A>G	c.(2317-2319)cAc>cGc	p.H773R	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.H773R|ITGB4_ENST00000449880.2_Missense_Mutation_p.H773R|ITGB4_ENST00000339591.3_Missense_Mutation_p.H773R|ITGB4_ENST00000450894.3_Missense_Mutation_p.H773R	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	773					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTCTGACCACTTGGACACG	0.612													13	57					0	0	0	0	G	73736024	A	G	73736024	3	3	178	1	0	0	0	0	1	0	0	0	7950	159	6	5	2392	5	ITGB4	17	73736024	Missense_Mutation	SNP	A	TCGA-CR-6472-01A-11D-1870-08	608656	73736024	7459186	412	31396											
EVPL	2125	broad.mit.edu	37	chr17	74006418	74006418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaactctaccacttccttCtcctccagcctctccaaggg	8	11	5	17	0	3	1	0	0	3	1	7	1	5	1	6	1	3	0	6	1	4	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:74006418C>T	ENST00000301607.3	-	22	3121	c.2868G>A	c.(2866-2868)gaG>gaA	p.E956E	EVPL_ENST00000586740.1_Silent_p.E978E	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	956	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCACTTCCTTCTCCTCCAGCC	0.682													16	55					0	0	0	0	T	74006418	C	T	74006418	2	4	178	1	0	0	0	0	0	0	0	1	5330	912	32	2		2	EVPL	17	74006418	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	270394	74006418	7188792	413	31397											
CYTH1	9267	broad.mit.edu	37	chr17	76694965	76694965	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggttcatggcaatgaacctCtccacagtgggcttatcttt	8	13	9	11	1	3	1	1	1	2	0	4	1	3	1	2	3	1	3	2	3	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:76694965C>G	ENST00000589297.1	-	8	1151	c.459G>C	c.(457-459)gaG>gaC	p.E153D	CYTH1_ENST00000585509.1_Missense_Mutation_p.E153D|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000361101.4_Missense_Mutation_p.E212D|CYTH1_ENST00000446868.3_Missense_Mutation_p.E212D|CYTH1_ENST00000591455.1_Missense_Mutation_p.E212D			Q15438	CYH1_HUMAN	cytohesin 1	212	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CAATGAACCTCTCCACAGTGG	0.483													122	344					0	0	0	0	G	76694965	C	G	76694965	3	3	178	1	0	0	0	0	1	0	0	0	4235	912	32	2	584	2	CYTH1	17	76694965	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	2688547	76694965	4500245	414	31398											
RNF213	57674	broad.mit.edu	37	chr17	78348306	78348306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggataggtacctggtgtacGgcgatgaatacaaggctctc	10	10	13	8	2	1	1	0	1	1	0	2	3	1	2	1	5	3	3	1	5	6	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:78348306G>A	ENST00000582970.1	+	50	13134	c.12991G>A	c.(12991-12993)Ggc>Agc	p.G4331S	RNF213_ENST00000336301.6_Missense_Mutation_p.G2404S|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G4380S|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTGGTGTACGGCGATGAATA	0.562													22	69					0	0	0	0	A	78348306	G	A	78348306	3	1	178	1	0	0	0	0	1	0	0	0	13562	1116	39	1	13504	1	RNF213	17	78348306	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1653341	78348306	2846904	415	31399											
ASPSCR1	79058	broad.mit.edu	37	chr17	79954344	79954344	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaccccaggaagcctGggctcgtcagcgtcggctgg	7	5	16	13	3	1	1	1	0	0	1	3	2	1	2	3	5	2	3	3	5	2	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:79954344G>C	ENST00000306729.7	+	7	652	c.555G>C	c.(553-555)ctG>ctC	p.L185L	ASPSCR1_ENST00000306739.4_Silent_p.L185L|ASPSCR1_ENST00000580534.1_Silent_p.L108L	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	185							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAGGAAGCCTGGGCTCGTCAG	0.672			T	TFE3	alveolar soft part sarcoma								8	36					0	0	0	0	C	79954344	G	C	79954344	2	2	178	1	0	0	0	0	0	0	0	1	1063	1335	47	4		4	ASPSCR1	17	79954344	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1606038	79954344	1240866	416	31400											
SMCHD1	23347	broad.mit.edu	37	chr18	2700762	2700762	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtactcctcctaagaagaGagggcttgcaccaattgaat	12	10	10	9	0	0	3	0	1	0	2	2	4	2	3	3	1	2	3	3	1	5	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:2700762G>C	ENST00000320876.6	+	12	1831	c.1493G>C	c.(1492-1494)aGa>aCa	p.R498T	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R498T	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	498					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CCTAAGAAGAGAGGGCTTGCA	0.338													24	31					0	0	0	0	C	2700762	G	C	2700762	3	2	178	1	0	0	0	0	1	0	0	0	14876	942	33	2	1539	2	SMCHD1	18	2700762	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08		2700762	75376486	417	31401											
SMCHD1	23347	broad.mit.edu	37	chr18	2724980	2724980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaagggccctgtaaactCttgtcaaggcaaggtaagca	13	7	11	10	0	2	0	1	0	1	0	2	0	2	0	2	3	3	4	2	3	6	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:2724980C>A	ENST00000320876.6	+	21	3025	c.2687C>A	c.(2686-2688)tCt>tAt	p.S896Y	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S896Y	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	896					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CCTGTAAACTCTTGTCAAGGC	0.323													10	10					0.000673444	0.000685431	1	0	A	2724980	C	A	2724980	3	1	178	1	0	0	0	0	1	0	0	0	14876	913	32	2	2769	2	SMCHD1	18	2724980	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	24218	2724980	75352268	418	31402											
ABHD3	171586	broad.mit.edu	37	chr18	19237110	19237110	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttttacaaacatatgtcgGtgcctggaacaaaagaattt	14	13	8	6	1	0	1	0	0	0	1	1	2	0	2	1	2	4	1	1	2	7	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:19237110G>A	ENST00000578270.1	-	6	1201	c.261C>T	c.(259-261)caC>caT	p.H87H	ABHD3_ENST00000289119.2_Silent_p.H282H|ABHD3_ENST00000580981.1_Silent_p.H229H			Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	282						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						ACATATGTCGGTGCCTGGAAC	0.338													7	16					0	0	0	0	A	19237110	G	A	19237110	2	1	178	1	0	0	0	0	0	0	0	1	83	1252	44	4		4	ABHD3	18	19237110	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	16512130	19237110	58840138	419	31403											
TTC39C	125488	broad.mit.edu	37	chr18	21705475	21705475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtacttgtggaaagctcttCcaaactgttccttccccaac	9	13	6	13	0	1	0	0	0	1	0	4	1	4	1	4	1	4	3	4	1	4	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:21705475C>G	ENST00000540918.2	+	5	710	c.460C>G	c.(460-462)Cca>Gca	p.P154A	TTC39C_ENST00000317571.3_Missense_Mutation_p.P461A|TTC39C_ENST00000304621.6_Missense_Mutation_p.P400A			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	461							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GAAAGCTCTTCCAAACTGTTC	0.463													25	40					0	0	0	0	G	21705475	C	G	21705475	3	3	178	1	0	0	0	0	1	0	0	0	16805	855	30	2	1419	2	TTC39C	18	21705475	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	2468365	21705475	56371773	420	31404											
ASXL3	80816	broad.mit.edu	37	chr18	31314318	31314318	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggataaggcaagaaattGagaaggaaaagaaaacagaa	22	4	12	3	1	0	4	0	1	0	4	0	7	0	6	0	3	2	1	0	3	9	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:31314318G>T	ENST00000269197.5	+	10	1021	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.E48Q(1)|p.E341Q(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAAGAAATTGAGAAGGAAAA	0.323													8	21					9.70103e-10	1.01361e-09	1	0	T	31314318	G	T	31314318	4	4	178	1	0	0	0	0	0	1	0	0	1072	1291	45	2	1059	2	ASXL3	18	31314318	Nonsense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	9608843	31314318	46762930	421	31405											
ONECUT2	9480	broad.mit.edu	37	chr18	55103474	55103474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accctcacccgcaccaccatCcgcaccaccaccaccaccac	11	2	2	26	2	1	0	1	0	0	0	2	0	2	0	10	0	0	2	10	0	0	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:55103474C>T	ENST00000491143.2	+	1	558	c.526C>T	c.(526-528)Ccg>Tcg	p.P176S		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	176	Poly-His.				organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		gcaccaccatccgcaccacca	0.662													6	5					0	0	0	0	T	55103474	C	T	55103474	3	4	178	1	0	0	0	0	1	0	0	0	10940	855	30	2	528	2	ONECUT2	18	55103474	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	23789156	55103474	22973774	422	31406											
KIAA1468	57614	broad.mit.edu	37	chr18	59895656	59895656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtggacagcatccagatGtaaatagttcagacaaggga	16	7	11	7	0	1	2	1	0	0	2	2	4	2	4	1	2	1	3	1	2	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:59895656G>A	ENST00000256858.6	+	8	1521	c.1273G>A	c.(1273-1275)Gta>Ata	p.V425I	KIAA1468_ENST00000592479.1_3'UTR|KIAA1468_ENST00000398130.2_Missense_Mutation_p.V425I			Q9P260	K1468_HUMAN	KIAA1468	425							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GCATCCAGATGTAAATAGTTC	0.428													26	50					0	0	0	0	A	59895656	G	A	59895656	3	1	178	1	0	0	0	0	1	0	0	0	8287	1377	48	4	1303	4	KIAA1468	18	59895656	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	4792182	59895656	18181592	423	31407											
PHLPP1	23239	broad.mit.edu	37	chr18	60642700	60642700	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atatcaagcatgaccctgtgGatccaggaggatccttcacc	11	9	9	12	0	2	1	2	1	0	0	4	4	4	4	4	3	1	1	4	3	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:60642700G>C	ENST00000400316.4	+	16	4071	c.2290G>C	c.(2290-2292)Gat>Cat	p.D764H	PHLPP1_ENST00000262719.5_Missense_Mutation_p.D1276H	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1276					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TGACCCTGTGGATCCAGGAGG	0.522													64	97					0	0	0	0	C	60642700	G	C	60642700	3	2	178	1	0	0	0	0	1	0	0	0	11926	1174	41	2	3888	2	PHLPP1	18	60642700	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	747044	60642700	17434548	424	31408											
PHLPP1	23239	broad.mit.edu	37	chr18	60642822	60642822	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagctgtgaagaagagctGaagaggattaaacagcacaa	18	6	12	5	0	0	6	0	3	0	3	0	7	0	7	0	1	4	3	0	1	6	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:60642822G>A	ENST00000400316.4	+	16	4193	c.2412G>A	c.(2410-2412)ctG>ctA	p.L804L	PHLPP1_ENST00000262719.5_Silent_p.L1316L	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1316					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						AAGAAGAGCTGAAGAGGATTA	0.502													51	87					0	0	0	0	A	60642822	G	A	60642822	2	1	178	1	0	0	0	0	0	0	0	1	11926	1277	45	2		2	PHLPP1	18	60642822	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	122	60642822	17434426	425	31409											
VPS4B	9525	broad.mit.edu	37	chr18	61064456	61064456	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcgggcatggggttcCggcaagggaatataaattcg	9	9	15	8	3	0	0	0	0	0	0	3	1	1	1	1	5	1	5	1	5	5	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:61064456C>T	ENST00000238497.5	-	9	1106	c.903G>A	c.(901-903)ccG>ccA	p.P301P		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	301					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CATGGGGTTCCGGCAAGGGAA	0.393													6	58					0	0	0	0	T	61064456	C	T	61064456	2	4	178	1	0	0	0	0	0	0	0	1	17309	639	23	1		1	VPS4B	18	61064456	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	421634	61064456	17012792	426	31410											
ZNF407	55628	broad.mit.edu	37	chr18	72344264	72344264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtaatagctttcgtcgacGaagcagcactttcaccttga	10	11	10	10	3	1	1	1	1	0	0	3	3	1	1	1	1	3	4	1	1	3	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:72344264G>A	ENST00000299687.5	+	1	1289	c.1289G>A	c.(1288-1290)cGa>cAa	p.R430Q	ZNF407_ENST00000582337.1_Missense_Mutation_p.R430Q|ZNF407_ENST00000577538.1_Missense_Mutation_p.R430Q|ZNF407_ENST00000309902.6_Missense_Mutation_p.R430Q	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTTCGTCGACGAAGCAGCACT	0.428													44	52					0	0	0	0	A	72344264	G	A	72344264	3	1	178	1	0	0	0	0	1	0	0	0	17982	1058	37	1	1291	1	ZNF407	18	72344264	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	11279808	72344264	5732984	427	31411											
POLRMT	5442	broad.mit.edu	37	chr19	619625	619625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggaggcgcttctcaatCtgcaggcgcccgccatagcg	6	7	12	16	5	2	0	1	0	2	0	4	1	3	1	3	3	2	2	3	3	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:619625C>A	ENST00000588649.2	-	13	3111	c.3027G>T	c.(3025-3027)caG>caT	p.Q1009H		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1009	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCTTCTCAATCTGCAGGCGCC	0.612													27	51					7.76418e-22	8.42012e-22	1	0	A	619625	C	A	619625	3	1	178	1	0	0	0	0	1	0	0	0	12310	912	32	2	701	2	POLRMT	19	619625	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08		619625	58509358	428	31412											
CNN2	1265	broad.mit.edu	37	chr19	1032417	1032417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaacaagctacagccgggctCcgtccccaagatcaaccgct	11	5	9	16	3	1	1	1	0	0	1	3	2	3	1	5	1	5	3	5	1	5	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:1032417C>G	ENST00000263097.4	+	3	575	c.212C>G	c.(211-213)tCc>tGc	p.S71C	CNN2_ENST00000348419.3_Missense_Mutation_p.S71C|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Missense_Mutation_p.S71C|CNN2_ENST00000565096.2_Missense_Mutation_p.S71C	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	71	CH.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CAGCCGGGCTCCGTCCCCAAG	0.622													40	67					0	0	0	0	G	1032417	C	G	1032417	3	3	178	1	0	0	0	0	1	0	0	0	3640	855	30	2	222	2	CNN2	19	1032417	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	412792	1032417	58096566	429	31413											
REXO1	57455	broad.mit.edu	37	chr19	1828053	1828053	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccgggagctggccctgctGaggtgccgggccgagtagtt	4	8	17	12	3	0	1	0	1	0	0	1	3	1	2	4	4	3	4	4	4	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:1828053G>A	ENST00000170168.4	-	2	829	c.735C>T	c.(733-735)ctC>ctT	p.L245L	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	245						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		TGGCCCTGCTGAGGTGCCGGG	0.677													23	43					0	0	0	0	A	1828053	G	A	1828053	2	1	178	1	0	0	0	0	0	0	0	1	13323	1277	45	2		2	REXO1	19	1828053	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	795636	1828053	57300930	430	31414											
SGTA	6449	broad.mit.edu	37	chr19	2759262	2759262	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttgtcacttacagctgctGaatctggggattgttcatta	8	15	11	7	0	3	1	2	1	1	0	3	2	3	2	0	3	3	4	0	3	3	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:2759262G>A	ENST00000221566.2	-	9	891	c.730C>T	c.(730-732)Cag>Tag	p.Q244*		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	244					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		TACAGCTGCTGAATCTGGGGA	0.393													62	145					0	0	0	0	A	2759262	G	A	2759262	4	1	178	1	0	0	0	0	0	1	0	0	14312	1299	45	2	223	2	SGTA	19	2759262	Nonsense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	931209	2759262	56369721	431	31415											
ZNF555	148254	broad.mit.edu	37	chr19	2851477	2851477	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtttcagatgatgaaactCaatttaaggccagtgggtca	12	12	11	6	0	3	3	3	2	0	1	3	3	3	3	1	3	1	1	1	3	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:2851477C>G	ENST00000334241.4	+	3	280	c.142C>G	c.(142-144)Caa>Gaa	p.Q48E	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.Q48E	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		TGATGAAACTCAATTTAAGGC	0.393													18	25					0	0	0	0	G	2851477	C	G	2851477	3	3	178	1	0	0	0	0	1	0	0	0	18081	827	29	2	152	2	ZNF555	19	2851477	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	92215	2851477	56277506	432	31416											
MUC16	94025	broad.mit.edu	37	chr19	9066076	9066076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaagtgaagtcacaggaaGaggagaggaggagatagtca	17	4	17	3	0	2	5	2	1	0	4	2	10	2	7	0	4	0	0	0	4	4	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:9066076G>A	ENST00000397910.4	-	3	21573	c.21370C>T	c.(21370-21372)Ctt>Ttt	p.L7124F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7126	Ser-rich.|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						GTCACAGGAAGAGGAGAGGAG	0.517													35	89					0	0	0	0	A	9066076	G	A	9066076	3	1	178	1	0	0	0	0	1	0	0	0	10043	942	33	2	22481	2	MUC16	19	9066076	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	6214599	9066076	50062907	433	31417											
COL5A3	50509	broad.mit.edu	37	chr19	10104345	10104345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggccatcgaagccacgatCaccctgtccagagacaccag	12	4	10	15	2	1	1	1	0	0	1	3	5	2	1	5	1	1	0	5	1	1	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:10104345C>T	ENST00000264828.3	-	18	1730	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	549	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AAGCCACGATCACCCTGTCCA	0.587													18	47					0	0	0	0	T	10104345	C	T	10104345	3	4	178	1	0	0	0	0	1	0	0	0	3728	826	29	2	3792	2	COL5A3	19	10104345	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1038269	10104345	49024638	434	31418											
RGL3	57139	broad.mit.edu	37	chr19	11517470	11517470	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggggaccttgaggcatGagcccttcctcttcctccgc	5	10	11	15	1	1	2	0	2	1	0	4	3	4	3	5	3	2	2	5	3	0	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:11517470G>A	ENST00000380456.3	-	6	771	c.708C>T	c.(706-708)ctC>ctT	p.L236L	RGL3_ENST00000393423.3_Silent_p.L236L	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	236					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTTGAGGCATGAGCCCTTCCT	0.577													22	34					0	0	0	0	A	11517470	G	A	11517470	2	1	178	1	0	0	0	0	0	0	0	1	13360	1277	45	2		2	RGL3	19	11517470	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1413125	11517470	47611513	435	31419											
ECSIT	51295	broad.mit.edu	37	chr19	11618651	11618651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccagggcggcctgctgatCgggactctggattcctggtg	4	9	17	11	2	1	1	0	1	1	0	3	3	2	3	3	6	1	1	3	6	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:11618651C>T	ENST00000270517.7	-	6	946	c.811G>A	c.(811-813)Gat>Aat	p.D271N	ECSIT_ENST00000252440.7_Intron|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000417981.2_Missense_Mutation_p.D57N|ECSIT_ENST00000592312.1_Silent_p.P201P|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591104.1_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	271					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GCCTGCTGATCGGGACTCTGG	0.632													14	30					0	0	0	0	T	11618651	C	T	11618651	3	4	178	1	0	0	0	0	1	0	0	0	4936	884	31	1	496	1	ECSIT	19	11618651	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	101181	11618651	47510332	436	31420											
ZNF69	7620	broad.mit.edu	37	chr19	11998761	11998761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgctgtagtcacaggaGgtgtagagaggaccccggga	9	6	16	10	1	1	1	1	0	0	1	1	5	1	4	3	4	1	3	3	4	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:11998761G>T	ENST00000429654.2	+	1	163	c.23G>T	c.(22-24)aGg>aTg	p.R8M	ZNF69_ENST00000340180.5_Missense_Mutation_p.R8M			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	8						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AGTCACAGGAGGTGTAGAGAG	0.637													15	41					4.7546e-09	4.94322e-09	1	0	T	11998761	G	T	11998761	3	4	178	1	0	0	0	0	1	0	0	0	18190	1000	35	4	25	4	ZNF69	19	11998761	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	380110	11998761	47130222	437	31421											
ZNF700	90592	broad.mit.edu	37	chr19	12060754	12060754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcaaaccttcagatgcatGaaaggactcacactggagag	14	7	9	11	0	3	3	3	1	0	2	3	5	3	4	2	2	2	1	2	2	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:12060754G>A	ENST00000482090.1	+	3	2279	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K	ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.E639K			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCAGATGCATGAAAGGACTCA	0.423													32	62					0	0	0	0	A	12060754	G	A	12060754	3	1	178	1	0	0	0	0	1	0	0	0	18199	1291	45	2	1929	2	ZNF700	19	12060754	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	61993	12060754	47068229	438	31422											
PRKACA	5566	broad.mit.edu	37	chr19	14203941	14203941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccctaaaactcagaaaactCcttgccacacttctcattga	13	10	3	15	0	2	2	2	1	1	1	4	2	3	2	4	0	3	0	4	0	4	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:14203941C>G	ENST00000308677.4	-	10	1235	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.E339Q	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	347	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TCAGAAAACTCCTTGCCACAC	0.468													12	21					0	0	0	0	G	14203941	C	G	14203941	3	3	178	1	0	0	0	0	1	0	0	0	12577	864	30	2	20	2	PRKACA	19	14203941	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	2143187	14203941	44925042	439	31423											
TECR	9524	broad.mit.edu	37	chr19	14676041	14676041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgcggaagatcccataccCcaccaagaaccccttcacgt	12	5	7	17	3	1	2	1	0	0	2	2	4	2	3	6	1	2	0	6	1	4	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:14676041C>T	ENST00000600083.1	+	11	860	c.227C>T	c.(226-228)cCc>cTc	p.P76L	TECR_ENST00000215567.5_Missense_Mutation_p.P231L|TECR_ENST00000596073.1_Missense_Mutation_p.P76L|TECR_ENST00000436007.2_Missense_Mutation_p.P246L			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	231					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						ATCCCATACCCCACCAAGAAC	0.637													39	60					0	0	0	0	T	14676041	C	T	14676041	3	4	178	1	0	0	0	0	1	0	0	0	15839	623	22	4	734	4	TECR	19	14676041	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	472100	14676041	44452942	440	31424											
SYDE1	85360	broad.mit.edu	37	chr19	15224468	15224468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcagaccccgaagtggtGactcggccccgcggtcgagg	6	5	16	14	5	0	2	0	1	0	1	2	4	0	2	4	5	0	1	4	5	1	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:15224468G>A	ENST00000600252.1	+	5	2515	c.873G>A	c.(871-873)gtG>gtA	p.V291V	SYDE1_ENST00000342784.2_Silent_p.V634V|SYDE1_ENST00000600440.1_Silent_p.V567V			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	634					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CCGAAGTGGTGACTCGGCCCC	0.697													38	81					0	0	0	0	A	15224468	G	A	15224468	2	1	178	1	0	0	0	0	0	0	0	1	15526	1277	45	2		2	SYDE1	19	15224468	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	548427	15224468	43904515	441	31425											
NOTCH3	4854	broad.mit.edu	37	chr19	15292503	15292503	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgggccgcaggggttgctCaggcactcatccacatcgcg	6	6	13	16	4	2	0	2	0	0	0	4	0	3	0	3	4	1	4	3	4	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:15292503C>G	ENST00000263388.2	-	17	2751	c.2676G>C	c.(2674-2676)ctG>ctC	p.L892L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	892	EGF-like 23; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGGGGTTGCTCAGGCACTCAT	0.677													3	1					0	0	0	0	G	15292503	C	G	15292503	2	3	178	1	0	0	0	0	0	0	0	1	10620	813	29	2		2	NOTCH3	19	15292503	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	68035	15292503	43836480	442	31426											
PGLYRP2	114770	broad.mit.edu	37	chr19	15586745	15586745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctggtcccagcagccctCagttcccaggtctggatggc	6	8	13	14	0	2	0	1	0	1	0	4	2	4	1	3	4	3	3	3	4	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:15586745C>T	ENST00000292609.4	-	2	865	c.736G>A	c.(736-738)Gag>Aag	p.E246K	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.E246K			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	246					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CAGCAGCCCTCAGTTCCCAGG	0.617													22	40					0	0	0	0	T	15586745	C	T	15586745	3	4	178	1	0	0	0	0	1	0	0	0	11866	835	29	2	1010	2	PGLYRP2	19	15586745	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	294242	15586745	43542238	443	31427											
SLC27A1	376497	broad.mit.edu	37	chr19	17608070	17608070	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accccgtcccccaggtggttCagtacatcggggagatctgc	7	8	12	14	2	2	1	1	0	1	1	4	2	3	1	4	4	2	2	4	4	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:17608070C>G	ENST00000252595.7	+	7	1100	c.1003C>G	c.(1003-1005)Cag>Gag	p.Q335E	SLC27A1_ENST00000442725.1_Missense_Mutation_p.Q335E|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Missense_Mutation_p.Q156E	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	335	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCAGGTGGTTCAGTACATCGG	0.711													10	19					0	0	0	0	G	17608070	C	G	17608070	3	3	178	1	0	0	0	0	1	0	0	0	14613	827	29	2	1029	2	SLC27A1	19	17608070	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	2021325	17608070	41520913	444	31428											
B3GNT3	10331	broad.mit.edu	37	chr19	17918980	17918980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcccctagcaactatgtgCgccgcgagctgctgcggcgc	5	7	12	17	5	0	0	0	0	0	0	1	1	1	0	4	1	6	3	4	1	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:17918980C>T	ENST00000318683.6	+	2	511	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	B3GNT3_ENST00000595387.1_Missense_Mutation_p.R122C	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	122					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CAACTATGTGCGCCGCGAGCT	0.677													3	24					0	0	0	0	T	17918980	C	T	17918980	3	4	178	1	0	0	0	0	1	0	0	0	1262	768	27	1	366	1	B3GNT3	19	17918980	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	310910	17918980	41210003	445	31429											
UPF1	5976	broad.mit.edu	37	chr19	18956861	18956861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaccagccagttgttggctGagttgaacttcgaggaagat	11	10	13	7	1	0	4	0	2	0	2	1	6	0	5	2	2	2	4	2	2	2	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:18956861G>A	ENST00000262803.5	+	2	576	c.304G>A	c.(304-306)Gag>Aag	p.E102K	UPF1_ENST00000599848.1_Missense_Mutation_p.E102K	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	102	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTTGTTGGCTGAGTTGAACTT	0.577													23	26					0	0	0	0	A	18956861	G	A	18956861	3	1	178	1	0	0	0	0	1	0	0	0	17099	1291	45	2	310	2	UPF1	19	18956861	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1037881	18956861	40172122	446	31430											
UPF1	5976	broad.mit.edu	37	chr19	18967806	18967806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgagccggagtgcatggttCccgtggtcctcggggccaag	5	7	16	13	4	0	0	0	0	0	0	3	2	2	1	5	5	2	2	5	5	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:18967806C>A	ENST00000262803.5	+	14	2217	c.1945C>A	c.(1945-1947)Ccc>Acc	p.P649T	UPF1_ENST00000599848.1_Missense_Mutation_p.P660T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	660					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTGCATGGTTCCCGTGGTCCT	0.582													39	63					2.54651e-27	2.79051e-27	1	0	A	18967806	C	A	18967806	3	1	178	1	0	0	0	0	1	0	0	0	17099	855	30	2	1999	2	UPF1	19	18967806	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	10945	18967806	40161177	447	31431											
ZNF99	7652	broad.mit.edu	37	chr19	22940553	22940553	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattatctcatgttttctaaGagttgaggactggctaaaag	13	14	9	5	0	2	2	1	1	2	1	3	3	2	3	0	2	0	3	0	2	5	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:22940553G>C	ENST00000397104.3	-	5	1884	c.1885C>G	c.(1885-1887)Ctt>Gtt	p.L629V	ZNF99_ENST00000596209.1_Missense_Mutation_p.L720V					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTTTCTAAGAGTTGAGGAC	0.363													24	49					0	0	0	0	C	22940553	G	C	22940553	3	2	178	1	0	0	0	0	1	0	0	0	18297	942	33	2	1239	2	ZNF99	19	22940553	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3972747	22940553	36188430	448	31432											
ZNF99	7652	broad.mit.edu	37	chr19	22952052	22952052	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacattcctatataaattCtgctgagccatgtccaggca	13	12	6	10	0	1	1	0	1	1	0	3	1	3	1	3	1	3	2	3	1	5	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:22952052C>A	ENST00000397104.3	-	2	140	c.141G>T	c.(139-141)caG>caT	p.Q47H	ZNF99_ENST00000596209.1_Missense_Mutation_p.Q26H					zinc finger protein 99									p.Q47H(1)|p.Q47Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATATAAATTCTGCTGAGCCA	0.383													41	74					5.44703e-19	5.87681e-19	1	0	A	22952052	C	A	22952052	3	1	178	1	0	0	0	0	1	0	0	0	18297	912	32	2	2995	2	ZNF99	19	22952052	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	11499	22952052	36176931	449	31433											
DPY19L3	147991	broad.mit.edu	37	chr19	32949405	32949405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcattcgttgttgcctttCataatctcaggtatggtata	9	17	8	7	1	2	0	2	0	1	0	4	0	2	0	1	2	2	5	1	2	5	9			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:32949405C>T	ENST00000342179.5	+	12	1527	c.1312C>T	c.(1312-1314)Cat>Tat	p.H438Y	DPY19L3_ENST00000392250.2_Missense_Mutation_p.H438Y|DPY19L3_ENST00000586987.1_Missense_Mutation_p.H438Y|DPY19L3_ENST00000590651.1_3'UTR	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	438						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TGTTGCCTTTCATAATCTCAG	0.348													81	117					0	0	0	0	T	32949405	C	T	32949405	3	4	178	1	0	0	0	0	1	0	0	0	4778	826	29	2	1354	2	DPY19L3	19	32949405	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	9997353	32949405	26179578	450	31434											
PDCD2L	84306	broad.mit.edu	37	chr19	34904736	34904736	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagcgaattgctgcttgtCaggagcagattttgaggtaa	11	12	13	5	1	1	3	1	2	0	1	1	5	1	4	0	2	4	4	0	2	3	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:34904736C>G	ENST00000246535.3	+	5	828	c.781C>G	c.(781-783)Cag>Gag	p.Q261E	PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	261						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGCTGCTTGTCAGGAGCAGAT	0.328													11	31					0	0	0	0	G	34904736	C	G	34904736	3	3	178	1	0	0	0	0	1	0	0	0	11691	827	29	2	799	2	PDCD2L	19	34904736	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1955331	34904736	24224247	451	31435											
LRFN3	79414	broad.mit.edu	37	chr19	36431159	36431159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgcgcgtccccacctgctCtgggcggccgctacttctgg	2	9	12	18	4	2	0	0	0	2	0	3	0	3	0	5	3	3	2	5	3	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:36431159C>T	ENST00000588831.1	+	3	1886	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	LRFN3_ENST00000246529.3_Silent_p.L278L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	278	LRRCT.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCACCTGCTCTGGGCGGCCG	0.711													8	17					0	0	0	0	T	36431159	C	T	36431159	2	4	178	1	0	0	0	0	0	0	0	1	9003	912	32	2		2	LRFN3	19	36431159	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1526423	36431159	22697824	452	31436											
RYR1	6261	broad.mit.edu	37	chr19	38976417	38976417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgccaggcccactgcgcGcaggctactatgacctcctc	7	7	9	18	2	0	1	0	1	0	0	2	1	1	1	5	2	3	2	5	2	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:38976417G>A	ENST00000355481.4	+	34	5253	c.5122G>A	c.(5122-5124)Gca>Aca	p.A1708T	RYR1_ENST00000360985.3_Missense_Mutation_p.A1708T|RYR1_ENST00000359596.3_Missense_Mutation_p.A1708T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1708	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCACTGCGCGCAGGCTACTA	0.647													25	44					0	0	0	0	A	38976417	G	A	38976417	3	1	178	1	0	0	0	0	1	0	0	0	13853	1087	38	1	5256	1	RYR1	19	38976417	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2545258	38976417	20152566	453	31437											
PLEKHG2	64857	broad.mit.edu	37	chr19	39915437	39915437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagagaggaggctctctaGacattcagggcctctcaccc	9	8	11	13	0	3	3	2	1	2	2	5	5	3	4	2	3	0	1	2	3	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:39915437G>C	ENST00000425673.1	+	17	3902	c.3577G>C	c.(3577-3579)Gac>Cac	p.D1193H	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.D1163H|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.D1222H			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1222					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGCTCTCTAGACATTCAGGG	0.532													83	163					0	0	0	0	C	39915437	G	C	39915437	3	2	178	1	0	0	0	0	1	0	0	0	12141	942	33	2	3734	2	PLEKHG2	19	39915437	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	939020	39915437	19213546	454	31438											
SUPT5H	6829	broad.mit.edu	37	chr19	39962116	39962116	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacatccatgtgaaagacatCgttaaggtcattgatggccc	13	10	9	9	1	1	3	1	2	0	1	3	3	2	3	2	2	1	1	2	2	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:39962116C>T	ENST00000599117.1	+	20	2164	c.1797C>T	c.(1795-1797)atC>atT	p.I599I	SUPT5H_ENST00000598725.1_Silent_p.I599I|SUPT5H_ENST00000432763.2_Silent_p.I599I|SUPT5H_ENST00000402194.2_Silent_p.I595I|SUPT5H_ENST00000359191.6_Silent_p.I595I			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	599	KOW 4.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGAAAGACATCGTTAAGGTCA	0.512													29	51					0	0	0	0	T	39962116	C	T	39962116	2	4	178	1	0	0	0	0	0	0	0	1	15489	874	31	1		1	SUPT5H	19	39962116	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	46679	39962116	19166867	455	31439											
SPTBN4	57731	broad.mit.edu	37	chr19	40996095	40996095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aacgtgggttcgcatgacatCgtggatgggaatcaccggct	9	9	14	9	4	1	1	1	1	0	0	3	3	1	3	1	4	1	3	1	4	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:40996095C>G	ENST00000352632.3	+	4	521	c.435C>G	c.(433-435)atC>atG	p.I145M	SPTBN4_ENST00000595535.1_Missense_Mutation_p.I145M|SPTBN4_ENST00000338932.3_Missense_Mutation_p.I145M|SPTBN4_ENST00000598249.1_Missense_Mutation_p.I145M|SPTBN4_ENST00000344104.3_Missense_Mutation_p.I145M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	145	Actin-binding.|CH 1.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCATGACATCGTGGATGGGA	0.637													26	35					0	0	0	0	G	40996095	C	G	40996095	3	3	178	1	0	0	0	0	1	0	0	0	15211	874	31	3	445	3	SPTBN4	19	40996095	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1033979	40996095	18132888	456	31440											
EXOSC5	56915	broad.mit.edu	37	chr19	41895711	41895711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccagcacgagggtcccatCagagtccagggcgcaggcga	10	4	14	13	3	1	1	1	0	0	1	4	3	4	1	3	3	1	2	3	3	0	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:41895711C>G	ENST00000221233.4	-	4	634	c.484G>C	c.(484-486)Gat>Cat	p.D162H	EXOSC5_ENST00000596905.1_Missense_Mutation_p.D124H|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	162					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						AGGGTCCCATCAGAGTCCAGG	0.617													49	73					0	0	0	0	G	41895711	C	G	41895711	3	3	178	1	0	0	0	0	1	0	0	0	5355	826	29	2	235	2	EXOSC5	19	41895711	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	899616	41895711	17233272	457	31441											
ARHGEF1	9138	broad.mit.edu	37	chr19	42406794	42406803	+	Frame_Shift_Del	DEL	TGTGCCTTCG	TGTGCCTTCG	-																															aacgcaaggaccctcggttcTgtgccttcgtgcaggtgagg																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:42406794_42406803delTGTGCCTTCG	ENST00000599846.1	+	18	1902_1911	c.1777_1786delTGTGCCTTCG	c.(1777-1788)tgfs	p.CAFV593fs	ARHGEF1_ENST00000347545.4_Frame_Shift_Del_p.CAFV504fs|ARHGEF1_ENST00000354532.3_Frame_Shift_Del_p.CAFV537fs|ARHGEF1_ENST00000378152.4_Frame_Shift_Del_p.CAFV519fs|ARHGEF1_ENST00000337665.4_Frame_Shift_Del_p.CAFV552fs			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	537	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCCTCGGTTCTGTGCCTTCGTGCAGGTGAG	0.624													19	43	---	---	---	---					-	42406803	TGTGCCTTCG	-	42406794	7	5	178	1	0	1	0	1	0	0	0	0	895	1580	55	0	1720	0	ARHGEF1	19	42406794	Frame_Shift_Del	DEL	TGTGCCTTCG	TCGA-CR-6472-01A-11D-1870-08	511083	42406794	16722189	458	31442											
GRIK5	2901	broad.mit.edu	37	chr19	42558072	42558072	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacccgcccggtcagcccatCatactctacctggcagggtg	7	7	11	16	2	3	0	2	0	1	0	3	1	3	0	4	3	3	1	4	3	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:42558072C>G	ENST00000262895.3	-	9	1065	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H	GRIK5_ENST00000301218.4_Missense_Mutation_p.D356H|GRIK5_ENST00000593562.1_Missense_Mutation_p.D356H	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	356						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTCAGCCCATCATACTCTACC	0.617													12	17					0	0	0	0	G	42558072	C	G	42558072	3	3	178	1	0	0	0	0	1	0	0	0	6827	826	29	2	1920	2	GRIK5	19	42558072	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	151278	42558072	16570911	459	31443											
TMEM145	284339	broad.mit.edu	37	chr19	42827884	42827884	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgggaacgtgacgtttatCagcgactcggtgcccaactt	9	11	11	10	4	1	1	1	1	0	0	2	3	1	2	1	2	4	1	1	2	4	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:42827884C>T	ENST00000301204.3	+	14	1385	c.1344C>T	c.(1342-1344)atC>atT	p.I448I		NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	448						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TGACGTTTATCAGCGACTCGG	0.682													26	47					0	0	0	0	T	42827884	C	T	42827884	2	4	178	1	0	0	0	0	0	0	0	1	16153	816	29	2		2	TMEM145	19	42827884	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	269812	42827884	16301099	460	31444											
PVR	5817	broad.mit.edu	37	chr19	45161157	45161157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctaggagctcgccaggcaGaactgaccgtccaggtcaaa	11	5	11	14	2	1	2	1	1	0	1	3	3	2	3	4	3	2	2	4	3	3	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:45161157G>A	ENST00000425690.3	+	5	1269	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	PVR_ENST00000403059.4_Missense_Mutation_p.E324K|PVR_ENST00000344956.4_Missense_Mutation_p.E324K|PVR_ENST00000406449.4_Missense_Mutation_p.E324K|CTB-171A8.1_ENST00000590796.1_RNA	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	324	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCGCCAGGCAGAACTGACCGT	0.572											OREG0025540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	25					0	0	0	0	A	45161157	G	A	45161157	3	1	178	1	0	0	0	0	1	0	0	0	12919	943	33	2	988	2	PVR	19	45161157	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2333273	45161157	13967826	461	31445											
HIF3A	64344	broad.mit.edu	37	chr19	46800352	46800352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatggcgctggggctgcagCgcgcaaggtactgaagttcg	7	7	16	11	4	0	1	0	1	0	0	1	1	0	1	1	4	3	6	1	4	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:46800352C>G	ENST00000377670.4	+	1	50	c.19C>G	c.(19-21)Cgc>Ggc	p.R7G		NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GGGGCTGCAGCGCGCAAGGTA	0.716													17	29					0	0	0	0	G	46800352	C	G	46800352	3	3	178	1	0	0	0	0	1	0	0	0	7155	768	27	3	21	3	HIF3A	19	46800352	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1639195	46800352	12328631	462	31446											
ZC3H4	23211	broad.mit.edu	37	chr19	47597670	47597670	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttggatttcctcctcttCttcgacctccttttctcttt	2	21	4	14	1	3	0	0	0	3	0	8	2	6	1	4	1	1	1	4	1	0	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:47597670C>T	ENST00000253048.5	-	3	394	c.357G>A	c.(355-357)aaG>aaA	p.K119K	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	119							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCCTCTTCTTCGACCTCC	0.562													137	280					0	0	0	0	T	47597670	C	T	47597670	2	4	178	1	0	0	0	0	0	0	0	1	17665	912	32	2		2	ZC3H4	19	47597670	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	797318	47597670	11531313	463	31447											
SLC8A2	6543	broad.mit.edu	37	chr19	47960796	47960796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgcttgtcggccatcCaggcgaataccacgcacacc	9	5	10	17	4	0	0	0	0	0	0	2	1	1	0	5	2	2	3	5	2	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:47960796C>A	ENST00000236877.6	-	3	1126	c.731G>T	c.(730-732)tGg>tTg	p.W244L	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	244					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GTCGGCCATCCAGGCGAATAC	0.692													24	35					5.61819e-17	5.98956e-17	1	0	A	47960796	C	A	47960796	3	1	178	1	0	0	0	0	1	0	0	0	14795	595	21	4	2066	4	SLC8A2	19	47960796	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	363126	47960796	11168187	464	31448											
TULP2	7288	broad.mit.edu	37	chr19	49391429	49391429	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtgccaccctcgcctttCagggccttggacaactcttc	5	11	8	17	2	2	0	1	0	1	0	5	1	3	1	5	2	2	0	5	2	1	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49391429C>A	ENST00000221399.3	-	8	870	c.726G>T	c.(724-726)ctG>ctT	p.L242L		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	242					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CCTCGCCTTTCAGGGCCTTGG	0.592													35	39					7.53189e-24	8.21068e-24	1	0	A	49391429	C	A	49391429	2	1	178	1	0	0	0	0	0	0	0	1	16870	813	29	2		2	TULP2	19	49391429	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1430633	49391429	9737554	465	31449											
LIN7B	64130	broad.mit.edu	37	chr19	49621200	49621200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttgtccgttacacaccgcGagtgctggaggagatggagg	8	8	17	8	3	0	1	0	0	0	1	1	5	1	3	2	5	2	3	2	5	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49621200G>A	ENST00000221459.2	+	5	571	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	LIN7B_ENST00000391864.3_Missense_Mutation_p.R106Q	NM_022165.2	NP_071448.1	Q9HAP6	LIN7B_HUMAN	lin-7 homolog B (C. elegans)	176					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding			central_nervous_system(1)|endometrium(1)|prostate(1)	3		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		TACACACCGCGAGTGCTGGAG	0.657													34	78					0	0	0	0	A	49621200	G	A	49621200	3	1	178	1	0	0	0	0	1	0	0	0	8866	1058	37	1	545	1	LIN7B	19	49621200	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	229771	49621200	9507783	466	31450											
HRC	3270	broad.mit.edu	37	chr19	49657828	49657828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgagacatcctcatcctCttcactcccatggcctcggt	7	12	6	16	1	4	1	2	1	2	1	8	2	7	1	4	2	0	0	4	2	0	1	rs139799783		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49657828C>G	ENST00000252825.4	-	1	853	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	HRC_ENST00000595625.1_Missense_Mutation_p.E223Q	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	223	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCCTCATCCTCTTCACTCCCA	0.547													14	36					0	0	0	0	G	49657828	C	G	49657828	3	3	178	1	0	0	0	0	1	0	0	0	7402	922	32	2	1456	2	HRC	19	49657828	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	36628	49657828	9471155	467	31451											
HRC	3270	broad.mit.edu	37	chr19	49657906	49657907	+	In_Frame_Ins	INS	-	-	CTG																															tcttcctcctcctcctcctcINSctcctcctcttctccttcat																										TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49657906_49657907insCTG	ENST00000252825.4	-	1	774_775	c.588_589insCAG	c.(586-591)gaagga>gaCAGagga	p.196_196E>DR	HRC_ENST00000595625.1_In_Frame_Ins_p.196_196E>DR	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	196	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcctcctcctcctcctcctctt	0.559													18	70	---	---	---	---					CTG	49657907	-	CTG	49657906	7	5	178	1	0	1	1	0	0	0	0	0	7402	864	30	0	1534	0	HRC	19	49657906	In_Frame_Ins	INS	-	TCGA-CR-6472-01A-11D-1870-08	78	49657906	9471077	468	31452											
AP2A1	160	broad.mit.edu	37	chr19	50285913	50285913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctggccctgcactgcatCgccaacgtgggcagccggga	6	6	14	15	3	0	0	0	0	0	0	1	1	0	1	4	3	5	3	4	3	1	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:50285913C>T	ENST00000354293.5	+	4	571	c.405C>T	c.(403-405)atC>atT	p.I135I	AP2A1_ENST00000359032.5_Silent_p.I135I|AP2A1_ENST00000600199.1_3'UTR	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	135					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCACTGCATCGCCAACGTGG	0.647													6	20					0	0	0	0	T	50285913	C	T	50285913	2	4	178	1	0	0	0	0	0	0	0	1	740	874	31	1		1	AP2A1	19	50285913	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	628007	50285913	8843070	469	31453											
VRK3	51231	broad.mit.edu	37	chr19	50510833	50510833	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacagagtgtaccttcataGagaatgccctggttgtccct	9	11	11	10	0	1	2	1	0	0	2	2	4	2	3	3	2	2	2	3	2	3	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:50510833G>C	ENST00000599538.1	-	5	1204	c.540C>G	c.(538-540)ctC>ctG	p.L180L	VRK3_ENST00000377011.2_Silent_p.L130L|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000593919.1_Silent_p.L180L|VRK3_ENST00000594948.1_Silent_p.L180L|VRK3_ENST00000601912.1_Silent_p.L130L|VRK3_ENST00000601341.1_Silent_p.L130L|VRK3_ENST00000316763.3_Silent_p.L180L|VRK3_ENST00000594092.1_Silent_p.L180L|VRK3_ENST00000443401.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	180	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TACCTTCATAGAGAATGCCCT	0.582													24	74					0	0	0	0	C	50510833	G	C	50510833	2	2	178	1	0	0	0	0	0	0	0	1	17317	929	33	2		2	VRK3	19	50510833	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	224920	50510833	8618150	470	31454											
ZNF473	25888	broad.mit.edu	37	chr19	50542425	50542425	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgtgtttcaggaatttgTgaccctcaaggatgtcggca	9	13	11	8	1	2	1	2	1	0	0	3	3	2	3	1	3	1	2	1	3	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:50542425T>G	ENST00000595661.1	+	4	512	c.17T>G	c.(16-18)gTg>gGg	p.V6G	ZNF473_ENST00000445728.3_5'UTR|ZNF473_ENST00000601364.1_Missense_Mutation_p.V6G|ZNF473_ENST00000391821.2_Missense_Mutation_p.V6G|ZNF473_ENST00000270617.3_Missense_Mutation_p.V6G			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	6	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CAGGAATTTGTGACCCTCAAG	0.577													45	97					0	0	0	0	G	50542425	T	G	50542425	3	3	178	1	0	0	0	0	1	0	0	0	18026	1696	59	5	23	5	ZNF473	19	50542425	Missense_Mutation	SNP	T	TCGA-CR-6472-01A-11D-1870-08	31592	50542425	8586558	471	31455											
ZNF432	9668	broad.mit.edu	37	chr19	52537236	52537236	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actacatatacaagatttctCttctgtatgaatttgctgat	12	17	5	7	0	2	3	0	2	2	1	3	3	2	3	0	0	3	2	0	0	6	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:52537236C>G	ENST00000594154.1	-	5	1908	c.1696G>C	c.(1696-1698)Gag>Cag	p.E566Q	ZNF432_ENST00000221315.5_Missense_Mutation_p.E566Q			O94892	ZN432_HUMAN	zinc finger protein 432	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAAGATTTCTCTTCTGTATGA	0.398													39	87					0	0	0	0	G	52537236	C	G	52537236	3	3	178	1	0	0	0	0	1	0	0	0	18001	922	32	2	266	2	ZNF432	19	52537236	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1994811	52537236	6591747	472	31456											
KIR3DL3	115653	broad.mit.edu	37	chr19	55247444	55247444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccctccctccaggactctGatgaacaagaccctcaggag	10	8	8	15	0	2	3	1	2	1	1	5	5	5	5	4	2	1	0	4	2	2	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:55247444G>A	ENST00000291860.1	+	8	1132	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	372						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CCAGGACTCTGATGAACAAGA	0.542													64	155					0	0	0	0	A	55247444	G	A	55247444	3	1	178	1	0	0	0	0	1	0	0	0	8374	1290	45	2	1144	2	KIR3DL3	19	55247444	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2710208	55247444	3881539	473	31457											
SBK2	646643	broad.mit.edu	37	chr19	56041144	56041144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctcccactgcctccgcctCgccctcccgctgcctccagg	2	7	8	24	4	0	0	0	0	0	0	5	0	4	0	8	1	2	2	8	1	0	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:56041144C>T	ENST00000413299.1	-	4	1040	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	SBK2_ENST00000344158.3_Missense_Mutation_p.E335K	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	335							ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCTCCGCCTCGCCCTCCCGC	0.731													17	23					0	0	0	0	T	56041144	C	T	56041144	3	4	178	1	0	0	0	0	1	0	0	0	13947	893	31	1	46	1	SBK2	19	56041144	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	793700	56041144	3087839	474	31458											
ZNF547	284306	broad.mit.edu	37	chr19	57888534	57888534	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatgaggaggcacctttaGagccaggtgtttctgtagga	10	10	15	6	0	1	2	0	1	1	1	1	5	1	5	2	5	1	3	2	5	2	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:57888534G>C	ENST00000282282.3	+	4	340	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCACCTTTAGAGCCAGGTGT	0.507													22	38					0	0	0	0	C	57888534	G	C	57888534	3	2	178	1	0	0	0	0	1	0	0	0	18074	943	33	2	200	2	ZNF547	19	57888534	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1847390	57888534	1240449	475	31459											
ZNF211	10520	broad.mit.edu	37	chr19	58153116	58153116	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccaccggagacttcacactgGagaaagaccctatgagtgca	13	6	10	12	1	1	4	1	1	0	3	1	6	1	4	3	2	1	1	3	2	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:58153116G>C	ENST00000544273.1	+	5	1625	c.1298G>C	c.(1297-1299)gGa>gCa	p.G433A	ZNF211_ENST00000420680.1_Missense_Mutation_p.G425A|ZNF211_ENST00000391703.3_Missense_Mutation_p.G360A|ZNF211_ENST00000347302.3_Missense_Mutation_p.G421A|ZNF211_ENST00000299871.5_Missense_Mutation_p.G486A|ZNF211_ENST00000254182.7_Missense_Mutation_p.G412A|ZNF211_ENST00000240731.4_Missense_Mutation_p.G434A|ZNF211_ENST00000541801.1_Missense_Mutation_p.G412A			Q13398	ZN211_HUMAN	zinc finger protein 211	421						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTCACACTGGAGAAAGACCC	0.478													26	57					0	0	0	0	C	58153116	G	C	58153116	3	2	178	1	0	0	0	0	1	0	0	0	17862	1174	41	2	1315	2	ZNF211	19	58153116	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	264582	58153116	975867	476	31460											
DEFB126	81623	broad.mit.edu	37	chr20	126135	126135	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgaagagatgcatgtaaaGaatggttgggcaatgtgcgg	12	9	15	5	1	0	3	0	1	0	2	0	4	0	3	1	3	2	4	1	3	5	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:126135G>C	ENST00000382398.3	+	2	398	c.138G>C	c.(136-138)aaG>aaC	p.K46N	DEFB126_ENST00000542572.1_Intron	NM_030931.2	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	46					defense response to bacterium	extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGCATGTAAAGAATGGTTGGG	0.403													27	55					0	0	0	0	C	126135	G	C	126135	3	2	178	1	0	0	0	0	1	0	0	0	4448	933	33	2	144	2	DEFB126	20	126135	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08		126135	62899385	477	31461											
ATRN	8455	broad.mit.edu	37	chr20	3553417	3553417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttcaatagtctcctcctCagcgacatcctggtattcac	8	13	7	13	1	4	0	3	0	1	0	7	1	6	0	3	2	1	2	3	2	3	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:3553417C>T	ENST00000262919.5	+	12	1979	c.1911C>T	c.(1909-1911)ctC>ctT	p.L637L	ATRN_ENST00000446916.2_Silent_p.L637L	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	637					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTCTCCTCCTCAGCGACATCC	0.468													40	110					0	0	0	0	T	3553417	C	T	3553417	2	4	178	1	0	0	0	0	0	0	0	1	1210	813	29	2		2	ATRN	20	3553417	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	3427282	3553417	59472103	478	31462											
POLR3F	10621	broad.mit.edu	37	chr20	18448199	18448199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcctgacgcggatccggtcGaaatagaaaacaggtaaacc	14	5	11	11	5	0	2	0	1	0	1	2	4	1	3	3	3	2	1	3	3	6	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:18448199G>A	ENST00000377603.4	+	1	429	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	17					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						GGATCCGGTCGAAATAGAAAA	0.622													22	40					0	0	0	0	A	18448199	G	A	18448199	3	1	178	1	0	0	0	0	1	0	0	0	12305	1059	37	1	51	1	POLR3F	20	18448199	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	14894782	18448199	44577321	479	31463											
RALGAPA2	57186	broad.mit.edu	37	chr20	20601168	20601168	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcttgggcaacatcttttCtatctggctcctccatgaac	7	15	6	13	0	4	1	0	1	4	0	6	1	6	1	2	2	2	2	2	2	3	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:20601168C>G	ENST00000202677.6	-	11	1482	c.1340G>C	c.(1339-1341)aGa>aCa	p.R447T		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	447					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AACATCTTTTCTATCTGGCTC	0.393													31	47					0	0	0	0	G	20601168	C	G	20601168	3	3	178	1	0	0	0	0	1	0	0	0	13096	913	32	2	4397	2	RALGAPA2	20	20601168	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	2152969	20601168	42424352	480	31464											
TP53INP2	58476	broad.mit.edu	37	chr20	33297096	33297096	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgcccccgcgggccgccctCcgcccgcgccctccttgatg	1	6	11	23	6	0	1	0	1	0	0	2	1	2	1	8	1	1	0	8	1	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:33297096C>G	ENST00000374810.3	+	4	570	c.181C>G	c.(181-183)Ccg>Gcg	p.P61A	TP53INP2_ENST00000374809.2_Missense_Mutation_p.P61A|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	61						nucleus				endometrium(1)|urinary_tract(1)	2						gggccgccctccgcccgcgcc	0.741													7	8					0	0	0	0	G	33297096	C	G	33297096	3	3	178	1	0	0	0	0	1	0	0	0	16484	855	30	2	187	2	TP53INP2	20	33297096	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	12695928	33297096	29728424	481	31465											
MMP24	10893	broad.mit.edu	37	chr20	33862274	33862274	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgatgtgccgggctccgtGaacgccgtggccgtggtcat	6	8	15	12	6	1	1	1	1	0	0	2	2	2	1	4	3	3	1	4	3	2	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:33862274G>A	ENST00000246186.6	+	9	1885	c.1800G>A	c.(1798-1800)gtG>gtA	p.V600V	MMP24-AS1_ENST00000438751.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000455178.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	600					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGGGCTCCGTGAACGCCGTGG	0.627													37	64					0	0	0	0	A	33862274	G	A	33862274	2	1	178	1	0	0	0	0	0	0	0	1	9731	1277	45	2		2	MMP24	20	33862274	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	565178	33862274	29163246	482	31466											
DLGAP4	22839	broad.mit.edu	37	chr20	35155433	35155433	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggcccagaccaggctctGagaccatgcaggaggaaaga	13	3	15	10	0	1	3	0	1	1	3	1	7	1	6	3	5	1	2	3	5	1	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:35155433G>C	ENST00000373913.3	+	13	3449	c.2969G>C	c.(2968-2970)tGa>tCa	p.*990S	DLGAP4_ENST00000340491.4_Nonstop_Mutation_p.*454S|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000339266.5_Nonstop_Mutation_p.*993S|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000373907.2_Nonstop_Mutation_p.*993S|DLGAP4_ENST00000401952.2_Nonstop_Mutation_p.*990S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	0					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACCAGGCTCTGAGACCATGCA	0.502													20	25					0	0	0	0	C	35155433	G	C	35155433	4	2	178	1	0	0	0	0	0	0	0	0	4599	1285	45	2	3139	2	DLGAP4	20	35155433	Nonstop_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1293159	35155433	27870087	483	31467											
JPH2	57158	broad.mit.edu	37	chr20	42815224	42815224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctcaaagccaaagttccagGagccagagtattcgccctgg	11	7	10	13	1	1	1	1	0	0	1	3	2	2	2	5	2	2	2	5	2	3	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:42815224G>C	ENST00000372980.3	-	1	994	c.122C>G	c.(121-123)tCc>tGc	p.S41C	JPH2_ENST00000342272.3_Missense_Mutation_p.S41C	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	41	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AAAGTTCCAGGAGCCAGAGTA	0.617													10	24					0	0	0	0	C	42815224	G	C	42815224	3	2	178	1	0	0	0	0	1	0	0	0	8014	1174	41	2	2003	2	JPH2	20	42815224	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	7659791	42815224	20210296	484	31468											
KCNK15	60598	broad.mit.edu	37	chr20	43374746	43374746	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccgcgagctggagcgcctGgcgctccaggctgagcccca	6	5	14	16	4	0	1	0	1	0	0	1	3	1	2	5	3	4	3	5	3	1	1	rs112757483		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:43374746G>A	ENST00000372861.3	+	1	326	c.195G>A	c.(193-195)ctG>ctA	p.L65L		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	65						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				TGGAGCGCCTGGCGCTCCAGG	0.697													6	11					0	0	0	0	A	43374746	G	A	43374746	2	1	178	1	0	0	0	0	0	0	0	1	8115	1335	47	4		4	KCNK15	20	43374746	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	559522	43374746	19650774	485	31469											
PABPC1L	80336	broad.mit.edu	37	chr20	43566728	43566728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctctacccccttatccatGatgtccacacccagctggct	7	11	6	17	0	1	1	0	1	1	0	4	1	3	1	5	1	2	2	5	1	2	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:43566728G>A	ENST00000372824.1	+	4	1852	c.334G>A	c.(334-336)Gat>Aat	p.D112N	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Missense_Mutation_p.D112N|PABPC1L_ENST00000255136.3_Missense_Mutation_p.D558N|PABPC1L_ENST00000217075.2_Missense_Mutation_p.D112N|PABPC1L_ENST00000217073.2_Missense_Mutation_p.D558N|PABPC1L_ENST00000537323.1_3'UTR			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	558	RRM 2.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCTTATCCATGATGTCCACAC	0.572													21	29					0	0	0	0	A	43566728	G	A	43566728	3	1	178	1	0	0	0	0	1	0	0	0	11435	1290	45	2	1722	2	PABPC1L	20	43566728	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	191982	43566728	19458792	486	31470											
DNTTIP1	116092	broad.mit.edu	37	chr20	44433831	44433831	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccacctttgtgttgggatCtcgagccaacaagtaagttt	10	13	9	9	1	1	0	0	0	1	0	2	2	1	1	3	1	3	3	3	1	4	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:44433831C>G	ENST00000372622.3	+	9	718	c.650C>G	c.(649-651)tCt>tGt	p.S217C		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	217						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GTGTTGGGATCTCGAGCCAAC	0.463													97	150					0	0	0	0	G	44433831	C	G	44433831	3	3	178	1	0	0	0	0	1	0	0	0	4717	913	32	2	684	2	DNTTIP1	20	44433831	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	867103	44433831	18591689	487	31471											
STAU1	6780	broad.mit.edu	37	chr20	47733708	47733708	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgccgataccatggctgatCagaggtggctgagaggagca	10	8	15	8	1	1	3	1	2	0	2	1	6	1	4	2	4	3	3	2	4	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:47733708C>G	ENST00000371828.3	-	12	1849	c.1362G>C	c.(1360-1362)ctG>ctC	p.L454L	STAU1_ENST00000371792.1_Silent_p.L446L|STAU1_ENST00000371802.1_Silent_p.L454L|STAU1_ENST00000347458.5_Silent_p.L448L|STAU1_ENST00000340954.7_Silent_p.L448L|STAU1_ENST00000360426.4_Silent_p.L448L|STAU1_ENST00000371856.2_Silent_p.L529L	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	529						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CATGGCTGATCAGAGGTGGCT	0.478													28	32					0	0	0	0	G	47733708	C	G	47733708	2	3	178	1	0	0	0	0	0	0	0	1	15362	813	29	2		2	STAU1	20	47733708	Silent	SNP	C	TCGA-CR-6472-01A-11D-1870-08	3299877	47733708	15291812	488	31472											
ZNF217	7764	broad.mit.edu	37	chr20	52198855	52198855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccgcatgtgatttttaaGaaaccaaggctccttgaatc	11	13	8	9	1	0	3	0	2	0	1	3	3	2	3	3	1	1	2	3	1	4	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:52198855G>A	ENST00000371471.2	-	2	936	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	ZNF217_ENST00000302342.3_Missense_Mutation_p.L171F			O75362	ZN217_HUMAN	zinc finger protein 217	171					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGATTTTTAAGAAACCAAGGC	0.463													64	125					0	0	0	0	A	52198855	G	A	52198855	3	1	178	1	0	0	0	0	1	0	0	0	17867	942	33	2	2651	2	ZNF217	20	52198855	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	4465147	52198855	10826665	489	31473											
ZBP1	81030	broad.mit.edu	37	chr20	56188387	56188387	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctcttcttccagaatcttCtgcaaaataatattcaactg	12	15	4	10	0	5	1	1	0	4	1	6	1	6	1	1	0	3	2	1	0	6	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:56188387C>G	ENST00000340462.4	-	4	714		c.e4-1		ZBP1_ENST00000395822.3_Splice_Site|ZBP1_ENST00000541799.1_Splice_Site|ZBP1_ENST00000343535.4_Splice_Site|ZBP1_ENST00000371173.3_Splice_Site			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1							cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CCAGAATCTTCTGCAAAATAA	0.448													51	74					0	0	0	0	G	56188387	C	G	56188387	5	3	178	1	0	0	0	0	0	0	1	0	17616	927	32	2	880	2	ZBP1	20	56188387	Splice_Site	SNP	C	TCGA-CR-6472-01A-11D-1870-08	3989532	56188387	6837133	490	31474											
CDH26	60437	broad.mit.edu	37	chr20	58571732	58571732	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattttgtgcttgaacctaaGaggcatggatgctctgtatc	9	15	10	7	0	1	2	0	1	1	1	2	3	1	3	1	2	3	4	1	2	4	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:58571732G>A	ENST00000348616.4	+	13	2235	c.1935G>A	c.(1933-1935)aaG>aaA	p.K645K	CDH26_ENST00000244047.5_Silent_p.K645K|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_Intron|CDH26_ENST00000350849.6_Intron	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	645					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			TTGAACCTAAGAGGCATGGAT	0.453													75	124					0	0	0	0	A	58571732	G	A	58571732	2	1	178	1	0	0	0	0	0	0	0	1	3139	933	33	2		2	CDH26	20	58571732	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	2383345	58571732	4453788	491	31475											
ARFGAP1	55738	broad.mit.edu	37	chr20	61907878	61907878	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggaaggacattgagcttGagaagatgaaagctggtggg	13	8	17	3	0	0	4	0	3	0	2	0	7	0	6	0	4	2	2	0	4	3	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:61907878G>C	ENST00000370275.4	+	4	309	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E73Q|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E20Q|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.E73Q|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000547204.1_5'UTR			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	73	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CATTGAGCTTGAGAAGATGAA	0.522													22	31					0	0	0	0	C	61907878	G	C	61907878	3	2	178	1	0	0	0	0	1	0	0	0	851	1291	45	2	227	2	ARFGAP1	20	61907878	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	3336146	61907878	1117642	492	31476											
CHRNA4	1137	broad.mit.edu	37	chr20	61982264	61982264	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctggtcgaaggggaagaAggtgacgtcgatgctgcagg	9	7	18	7	3	0	2	0	1	0	1	2	5	0	3	0	5	3	3	0	5	3	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:61982264A>C	ENST00000370263.4	-	5	720	c.499T>G	c.(499-501)Ttc>Gtc	p.F167V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	167					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	AAGGGGAAGAAGGTGACGTCG	0.607													33	53					0	0	0	0	C	61982264	A	C	61982264	3	2	178	1	0	0	0	0	1	0	0	0	3414	72	3	5	1392	5	CHRNA4	20	61982264	Missense_Mutation	SNP	A	TCGA-CR-6472-01A-11D-1870-08	74386	61982264	1043256	493	31477											
MYT1	4661	broad.mit.edu	37	chr20	62837064	62837064	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgaggtgaaggacgcctCtgtttcggatgaatcggaag	10	9	14	8	3	1	3	0	3	1	0	3	6	1	6	1	4	0	1	1	4	3	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:62837064C>G	ENST00000536311.1	+	6	672	c.308C>G	c.(307-309)tCt>tGt	p.S103C	MYT1_ENST00000360149.4_Missense_Mutation_p.S103C|MYT1_ENST00000328439.1_Missense_Mutation_p.S103C			Q01538	MYT1_HUMAN	myelin transcription factor 1	103					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGGACGCCTCTGTTTCGGAT	0.597													6	13					0	0	0	0	G	62837064	C	G	62837064	3	3	178	1	0	0	0	0	1	0	0	0	10176	913	32	2	322	2	MYT1	20	62837064	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	854800	62837064	188456	494	31478											
TIAM1	7074	broad.mit.edu	37	chr21	32492803	32492803	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagggcagcttgcttcttGagctgtgccatgcgggacgc	6	9	15	11	2	1	1	0	1	1	0	1	3	1	2	1	2	5	4	1	2	0	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32492803G>C	ENST00000286827.3	-	29	5130	c.4659C>G	c.(4657-4659)ctC>ctG	p.L1553L	TIAM1_ENST00000541036.1_Silent_p.L1493L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1553					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTGCTTCTTGAGCTGTGCCA	0.597													33	36					0	0	0	0	C	32492803	G	C	32492803	2	2	178	1	0	0	0	0	0	0	0	1	15984	1277	45	2		2	TIAM1	21	32492803	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08		32492803	15637092	495	31479											
TIAM1	7074	broad.mit.edu	37	chr21	32513499	32513499	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acagccccaaactcttcatgGattttctgcatctcattgat	10	14	5	12	0	4	1	2	1	3	0	5	2	4	2	2	1	3	1	2	1	1	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32513499G>A	ENST00000286827.3	-	23	4182	c.3711C>T	c.(3709-3711)atC>atT	p.I1237I	TIAM1_ENST00000541036.1_Silent_p.I1177I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1237					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACTCTTCATGGATTTTCTGCA	0.463													28	38					0	0	0	0	A	32513499	G	A	32513499	2	1	178	1	0	0	0	0	0	0	0	1	15984	1164	41	2		2	TIAM1	21	32513499	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	20696	32513499	15616396	496	31480											
TIAM1	7074	broad.mit.edu	37	chr21	32513759	32513759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaggtacgactccagcgtgGatgagtgctgctgcttcggg	6	10	16	9	3	0	2	0	2	0	0	2	4	1	3	1	3	5	4	1	3	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32513759G>A	ENST00000286827.3	-	22	4010	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F	TIAM1_ENST00000541036.1_Missense_Mutation_p.S1120F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1180	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCCAGCGTGGATGAGTGCTG	0.577													43	91					0	0	0	0	A	32513759	G	A	32513759	3	1	178	1	0	0	0	0	1	0	0	0	15984	1174	41	2	1268	2	TIAM1	21	32513759	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	260	32513759	15616136	497	31481											
TIAM1	7074	broad.mit.edu	37	chr21	32589957	32589957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctccttcgcttgctcgcgGatctggacatggcctgagta	5	12	12	12	3	1	1	0	1	1	0	4	3	2	3	2	3	2	4	2	3	1	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32589957G>A	ENST00000286827.3	-	10	2525	c.2054C>T	c.(2053-2055)tCc>tTc	p.S685F	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.S685F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	685					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTGCTCGCGGATCTGGACAT	0.542													42	75					0	0	0	0	A	32589957	G	A	32589957	3	1	178	1	0	0	0	0	1	0	0	0	15984	1174	41	2	2801	2	TIAM1	21	32589957	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	76198	32589957	15539938	498	31482											
IFNGR2	3460	broad.mit.edu	37	chr21	34787221	34787221	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcccagctgcccgctcctCagcacccgaagattcgcctg	6	9	8	18	3	1	1	1	0	0	1	4	2	3	1	5	0	3	3	5	0	1	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:34787221C>T	ENST00000290219.6	+	2	748	c.100C>T	c.(100-102)Cag>Tag	p.Q34*	IFNGR2_ENST00000405436.1_5'UTR|IFNGR2_ENST00000381995.1_Nonsense_Mutation_p.Q53*	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	34	Fibronectin type-III 1.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	GCCCGCTCCTCAGCACCCGAA	0.527													15	16					0	0	0	0	T	34787221	C	T	34787221	4	4	178	1	0	0	0	0	0	1	0	0	7603	827	29	2	106	2	IFNGR2	21	34787221	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	2197264	34787221	13342674	499	31483											
UMODL1	89766	broad.mit.edu	37	chr21	43508453	43508453	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccgtccaccacctgcactCagcccctgggaacgcctcca	8	5	7	21	2	1	0	1	0	0	0	3	1	3	1	8	1	3	1	8	1	1	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:43508453C>G	ENST00000400427.1	+	5	833	c.437C>G	c.(436-438)tCa>tGa	p.S146*	UMODL1_ENST00000408989.2_Nonsense_Mutation_p.S218*|UMODL1_ENST00000408910.2_Nonsense_Mutation_p.S218*|UMODL1_ENST00000400424.1_Nonsense_Mutation_p.S146*	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	218	WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CACCTGCACTCAGCCCCTGGG	0.642													21	7					0	0	0	0	G	43508453	C	G	43508453	4	3	178	1	0	0	0	0	0	1	0	0	17076	838	29	2	671	2	UMODL1	21	43508453	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	8721232	43508453	4621442	500	31484											
UBASH3A	53347	broad.mit.edu	37	chr21	43852254	43852254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctggtggttcgccacgggGagagagtggatcagatcttc	7	10	16	8	2	2	2	1	0	1	2	4	5	2	4	1	5	1	2	1	5	0	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:43852254G>A	ENST00000319294.6	+	9	1244	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	UBASH3A_ENST00000398367.1_Missense_Mutation_p.E367K|UBASH3A_ENST00000291535.6_Missense_Mutation_p.E367K	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	405	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCGCCACGGGGAGAGAGTGGA	0.567													5	7					0	0	0	0	A	43852254	G	A	43852254	3	1	178	1	0	0	0	0	1	0	0	0	16935	1175	41	2	1247	2	UBASH3A	21	43852254	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	343801	43852254	4277641	501	31485											
RGL4	266747	broad.mit.edu	37	chr22	24034855	24034855	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaccttttctccttttccaGatcctgctccacgtcctggg	4	15	7	15	1	1	2	0	1	1	1	6	2	5	2	6	1	1	1	6	1	0	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:24034855G>A	ENST00000290691.5	+	3	1543		c.e3-1		GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Splice_Site	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4						small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TCCTTTTCCAGATCCTGCTCC	0.547													20	35					0	0	0	0	A	24034855	G	A	24034855	5	1	178	1	0	0	0	0	0	0	1	0	13361	956	33	2	383	2	RGL4	22	24034855	Splice_Site	SNP	G	TCGA-CR-6472-01A-11D-1870-08		24034855	27269711	502	31486											
PIWIL3	440822	broad.mit.edu	37	chr22	25150055	25150055	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctgggcctgggcagaTgttctctttatgaaatcata	8	14	10	9	0	3	2	1	1	2	1	4	2	3	2	2	2	0	2	2	2	3	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:25150055T>G	ENST00000332271.5	-	8	1319	c.903A>C	c.(901-903)acA>acC	p.T301T	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.T192T|PIWIL3_ENST00000527701.1_Silent_p.T192T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	301	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCTGGGCAGATGTTCTCTTTA	0.388													36	73					0	0	0	0	G	25150055	T	G	25150055	2	3	178	1	0	0	0	0	0	0	0	1	12031	1451	51	5		5	PIWIL3	22	25150055	Silent	SNP	T	TCGA-CR-6472-01A-11D-1870-08	1115200	25150055	26154511	503	31487											
CRYBA4	1413	broad.mit.edu	37	chr22	27026412	27026412	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtggggctctcatgccccGaccttccaggtgcagagcat	7	8	13	13	1	1	1	1	0	1	1	3	3	2	1	4	3	3	3	4	3	0	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:27026412G>A	ENST00000354760.3	+	6	587	c.552G>A	c.(550-552)ccG>ccA	p.P184P	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	184	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CTCATGCCCCGACCTTCCAGG	0.597													27	28					0	0	0	0	A	27026412	G	A	27026412	2	1	178	1	0	0	0	0	0	0	0	1	3939	1045	37	1		1	CRYBA4	22	27026412	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1876357	27026412	24278154	504	31488											
MYH9	4627	broad.mit.edu	37	chr22	36684376	36684376	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcgcctccaggtccttcagGtccatctccagcttcttccg	4	12	8	17	2	3	0	1	0	2	0	8	0	7	0	6	2	2	1	6	2	0	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:36684376G>A	ENST00000216181.5	-	34	5084	c.4854C>T	c.(4852-4854)gaC>gaT	p.D1618D		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1618					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGTCCTTCAGGTCCATCTCCA	0.642			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				17	61					0	0	0	0	A	36684376	G	A	36684376	2	1	178	1	0	0	0	0	0	0	0	1	10112	1252	44	4		4	MYH9	22	36684376	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	9657964	36684376	14620190	505	31489											
EIF3D	8664	broad.mit.edu	37	chr22	36912642	36912642	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaatatcatctccaagcttCcacctgcggtaactgcagca	11	10	6	14	1	3	0	2	0	1	0	5	0	4	0	3	1	5	4	3	1	4	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:36912642C>T	ENST00000216190.8	-	12	1459	c.1089G>A	c.(1087-1089)tgG>tgA	p.W363*	EIF3D_ENST00000541106.1_Nonsense_Mutation_p.W314*|EIF3D_ENST00000405442.1_Nonsense_Mutation_p.W363*	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	363						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						CTCCAAGCTTCCACCTGCGGT	0.512													95	172					0	0	0	0	T	36912642	C	T	36912642	4	4	178	1	0	0	0	0	0	1	0	0	5052	856	30	2	573	2	EIF3D	22	36912642	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	228266	36912642	14391924	506	31490											
ELFN2	114794	broad.mit.edu	37	chr22	37769912	37769912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggccgagtccagcttgaGagcatcgatgcagttgttaa	11	9	13	8	2	0	2	0	1	0	2	2	5	1	2	2	1	3	5	2	1	1	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:37769912G>C	ENST00000402918.1	-	3	2448	c.1663C>G	c.(1663-1665)Ctc>Gtc	p.L555V	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.L555V	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	555						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCCAGCTTGAGAGCATCGATG	0.627													30	28					0	0	0	0	C	37769912	G	C	37769912	3	2	178	1	0	0	0	0	1	0	0	0	5096	942	33	2	803	2	ELFN2	22	37769912	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	857270	37769912	13534654	507	31491											
XPNPEP3	63929	broad.mit.edu	37	chr22	41253202	41253202	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaatgccttggctgctctCagcccccaagctggttcccg	5	10	10	16	2	1	0	1	0	1	0	3	0	2	0	4	2	4	5	4	2	2	3			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:41253202C>A	ENST00000357137.4	+	1	101	c.17C>A	c.(16-18)tCa>tAa	p.S6*	XPNPEP3_ENST00000541156.1_Nonsense_Mutation_p.S6*|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000414396.1_Nonsense_Mutation_p.S6*	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	6					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TGGCTGCTCTCAGCCCCCAAG	0.632													8	4					0.000442599	0.00045194	1	0	A	41253202	C	A	41253202	4	1	178	1	0	0	0	0	0	1	0	0	17540	838	29	2	19	2	XPNPEP3	22	41253202	Nonsense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	3483290	41253202	10051364	508	31492											
TNFRSF13C	115650	broad.mit.edu	37	chr22	42322147	42322147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcggaggacgcgccgcGaagccgccgctgtcgccgcc	4	4	15	18	9	1	0	0	0	1	0	2	3	1	2	5	2	2	1	5	2	1	0			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:42322147G>T	ENST00000291232.3	-	2	369	c.325C>A	c.(325-327)Cgc>Agc	p.R109S		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	109						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						GACGCGCCGCGAAGCCGCCGC	0.731													10	12					6.40141e-05	6.5578e-05	1	0	T	42322147	G	T	42322147	3	4	178	1	0	0	0	0	1	0	0	0	16382	1058	37	3	237	3	TNFRSF13C	22	42322147	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	1068945	42322147	8982419	509	31493											
MPPED1	758	broad.mit.edu	37	chr22	43831044	43831044	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cactcgaggacggaccccatCcagatgccgtacggcgacgt	9	5	12	15	6	0	1	0	0	0	1	2	5	1	3	4	3	2	1	4	3	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:43831044C>G	ENST00000417669.1	+	3	759	c.315C>G	c.(313-315)atC>atG	p.I105M	MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000538182.1_Missense_Mutation_p.I138M|MPPED1_ENST00000542779.1_Missense_Mutation_p.I105M|MPPED1_ENST00000443721.1_Missense_Mutation_p.I105M|MPPED1_ENST00000439548.1_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	105							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CGGACCCCATCCAGATGCCGT	0.642													49	36					0	0	0	0	G	43831044	C	G	43831044	3	3	178	1	0	0	0	0	1	0	0	0	9811	845	30	2	321	2	MPPED1	22	43831044	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	1508897	43831044	7473522	510	31494											
PANX2	56666	broad.mit.edu	37	chr22	50616191	50616191	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaacatcctggccatgttCtgcaacgagaaccgcgacca	12	7	8	14	3	2	1	1	0	1	1	3	3	3	1	4	1	4	2	4	1	3	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:50616191C>G	ENST00000395842.2	+	2	1050	c.1050C>G	c.(1048-1050)ttC>ttG	p.F350L	PANX2_ENST00000159647.5_Missense_Mutation_p.F350L	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	350					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGGCCATGTTCTGCAACGAGA	0.587													30	16					0	0	0	0	G	50616191	C	G	50616191	3	3	178	1	0	0	0	0	1	0	0	0	11492	912	32	2	1056	2	PANX2	22	50616191	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	6785147	50616191	688375	511	31495											
ARHGAP6	395	broad.mit.edu	37	chrX	11204461	11204461	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctttttcctttttactttGagcctcagcaggcaaggaaa	9	14	9	9	0	1	1	1	1	0	0	2	2	2	2	2	3	3	3	2	3	3	6			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:11204461G>C	ENST00000337414.4	-	5	2040	c.1168C>G	c.(1168-1170)Caa>Gaa	p.Q390E	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q199E|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q390E|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q422E|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q215E|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q187E|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q187E	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	390					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTTTTACTTTGAGCCTCAGCA	0.453													89	32					0	0	0	0	C	11204461	G	C	11204461	3	2	178	1	0	0	0	0	1	0	0	0	889	1299	45	2	1914	2	ARHGAP6	23	11204461	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08		11204461	144066099	512	31496											
ATP6AP2	10159	broad.mit.edu	37	chrX	40456555	40456555	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccattcactccttattttctGaggaaactcctgttgttttg	7	18	6	10	0	2	1	1	1	1	0	4	2	4	2	3	1	1	2	3	1	2	7			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:40456555G>C	ENST00000378438.4	+	4	513	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	ATP6AP2_ENST00000544975.1_Missense_Mutation_p.E43Q|ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000486558.1_Intron|ATP6AP2_ENST00000535539.1_Intron	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	119					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTTATTTTCTGAGGAAACTCC	0.338													33	19					0	0	0	0	C	40456555	G	C	40456555	3	2	178	1	0	0	0	0	1	0	0	0	1171	1291	45	2	369	2	ATP6AP2	23	40456555	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	29252094	40456555	114814005	513	31497											
CXorf38	159013	broad.mit.edu	37	chrX	40496291	40496291	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagtatactgccacaatctCtgggatgttcttgaattcat	10	14	9	8	0	3	1	1	1	2	0	4	3	3	3	1	2	2	2	1	2	4	5			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:40496291C>G	ENST00000378426.1	-	3	829	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	CXorf38_ENST00000327877.5_Missense_Mutation_p.E197Q|CXorf38_ENST00000378421.1_Missense_Mutation_p.E78Q|CXorf38_ENST00000440784.2_Missense_Mutation_p.E112Q			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	197										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						GCCACAATCTCTGGGATGTTC	0.368													30	11					0	0	0	0	G	40496291	C	G	40496291	3	3	178	1	0	0	0	0	1	0	0	0	4139	922	32	2	382	2	CXorf38	23	40496291	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	39736	40496291	114774269	514	31498											
HUWE1	10075	broad.mit.edu	37	chrX	53654387	53654387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatcagtttccatttcctctCcttcttgtgtagtattgggt	5	20	7	9	0	3	0	1	0	2	0	6	0	5	0	3	1	0	3	3	1	3	8			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:53654387C>T	ENST00000342160.3	-	16	1920	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E	HUWE1_ENST00000218328.8_Missense_Mutation_p.G488E|HUWE1_ENST00000262854.6_Missense_Mutation_p.G488E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	488					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CATTTCCTCTCCTTCTTGTGT	0.378													40	18					0	0	0	0	T	53654387	C	T	53654387	3	4	178	1	0	0	0	0	1	0	0	0	7514	855	30	2	11933	2	HUWE1	23	53654387	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	13158096	53654387	101616173	515	31499											
ARR3	407	broad.mit.edu	37	chrX	69496305	69496305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgaccaacctgccctgttCtgtgacactgcagccaggtc	7	9	11	14	0	1	2	0	2	1	0	2	2	1	2	4	2	4	2	4	2	1	1			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:69496305C>G	ENST00000374495.3	+	7	466	c.368C>G	c.(367-369)tCt>tGt	p.S123C	ARR3_ENST00000307959.8_Missense_Mutation_p.S123C			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	123					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						CTGCCCTGTTCTGTGACACTG	0.478													27	8					0	0	0	0	G	69496305	C	G	69496305	3	3	178	1	0	0	0	0	1	0	0	0	983	913	32	2	390	2	ARR3	23	69496305	Missense_Mutation	SNP	C	TCGA-CR-6472-01A-11D-1870-08	15841918	69496305	85774255	516	31500											
GPR112	139378	broad.mit.edu	37	chrX	135430993	135430993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaacagtcatcacaagcaGatgaggctacaactttgggc	13	8	9	11	0	3	2	3	1	0	1	3	2	3	2	0	2	4	2	0	2	4	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:135430993G>A	ENST00000394143.1	+	6	5419	c.5128G>A	c.(5128-5130)Gat>Aat	p.D1710N	GPR112_ENST00000370652.1_Missense_Mutation_p.D1710N|GPR112_ENST00000394141.1_Missense_Mutation_p.D1505N|GPR112_ENST00000287534.4_Missense_Mutation_p.D1647N|GPR112_ENST00000412101.1_Missense_Mutation_p.D1505N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1710					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCACAAGCAGATGAGGCTAC	0.438													83	25					0	0	0	0	A	135430993	G	A	135430993	3	1	178	1	0	0	0	0	1	0	0	0	6678	942	33	2	5138	2	GPR112	23	135430993	Missense_Mutation	SNP	G	TCGA-CR-6472-01A-11D-1870-08	65934688	135430993	19839567	517	31501											
MECP2	4204	broad.mit.edu	37	chrX	153296808	153296808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccctctcccagttaccgtGaagtcaaaatcattagggtc	10	11	7	13	1	3	1	2	1	1	0	6	1	4	1	3	1	1	1	3	1	5	2			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:153296808G>A	ENST00000303391.6	-	4	720	c.471C>T	c.(469-471)ttC>ttT	p.F157F	MECP2_ENST00000453960.2_Silent_p.F169F|MECP2_ENST00000407218.1_Intron	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	157	MBD.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTTACCGTGAAGTCAAAAT	0.562													53	12					0	0	0	0	A	153296808	G	A	153296808	2	1	178	1	0	0	0	0	0	0	0	1	9492	1281	45	2		2	MECP2	23	153296808	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	17865815	153296808	1973752	518	31502											
FLNA	2316	broad.mit.edu	37	chrX	153580937	153580937	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaccagggattttcaggctGaggtcacaatgactaccaac	12	9	9	11	0	2	2	2	2	0	0	2	3	2	3	2	3	3	1	2	3	4	4			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:153580937G>A	ENST00000422373.1	-	39	6710	c.6462C>T	c.(6460-6462)ctC>ctT	p.L2154L	FLNA_ENST00000344736.4_Silent_p.L2122L|FLNA_ENST00000369856.3_Silent_p.L295L|FLNA_ENST00000369850.3_Silent_p.L2162L|FLNA_ENST00000360319.4_Silent_p.L2154L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2162					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.L2162L(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTTCAGGCTGAGGTCACAAT	0.637													26	14					0	0	0	0	A	153580937	G	A	153580937	2	1	178	1	0	0	0	0	0	0	0	1	5978	1277	45	2		2	FLNA	23	153580937	Silent	SNP	G	TCGA-CR-6472-01A-11D-1870-08	284129	153580937	1689623	519	31503											
C1orf168	199920	broad.mit.edu	37	chr1	57252852	57252852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagcatgtacttacctctCtggagacagggagccctctt	9	10	11	11	0	2	1	0	0	2	1	3	4	2	3	2	3	4	2	2	3	2	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:57252852C>T	ENST00000343433.6	-	4	1029	c.949G>A	c.(949-951)Gag>Aag	p.E317K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	317								p.E317*(1)		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						ACTTACCTCTCTGGAGACAGG	0.488													35	42					0	0	0	0	T	57252852	C	T	57252852	3	4	179	1	0	0	0	0	1	0	0	0	2031	922	32	2	1305	2	C1orf168	1	57252852	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08		57252852	191997769	1	31504											
TCHH	7062	broad.mit.edu	37	chr1	152080007	152080007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttatctccccgacttggcGgtgcctctgttcctccttct	2	17	7	15	2	3	0	0	0	3	0	6	1	5	0	5	2	1	1	5	2	1	5			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:152080007G>A	ENST00000368804.1	-	2	5685	c.5686C>T	c.(5686-5688)Cgc>Tgc	p.R1896C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1896					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGACTTGGCGGTGCCTCTGT	0.582													72	63					0	0	0	0	A	152080007	G	A	152080007	3	1	179	1	0	0	0	0	1	0	0	0	15794	1116	39	1	149	1	TCHH	1	152080007	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	94827155	152080007	97170614	2	31505											
RPTN	126638	broad.mit.edu	37	chr1	152128845	152128845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agattgttgtgtatgtctttCagactgaccataatgagaat	12	15	9	5	0	2	4	1	2	1	3	2	5	2	4	1	0	0	2	1	0	3	5			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:152128845C>G	ENST00000316073.3	-	3	794	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	244	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTATGTCTTTCAGACTGACCA	0.423													100	115					0	0	0	0	G	152128845	C	G	152128845	3	3	179	1	0	0	0	0	1	0	0	0	13749	835	29	2	1628	2	RPTN	1	152128845	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	48838	152128845	97121776	3	31506											
FLG	2312	broad.mit.edu	37	chr1	152285143	152285143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgactaccactggaccctCggtgtccactgtctctgact	6	11	8	16	1	1	2	0	2	1	0	4	3	2	3	4	2	1	0	4	2	1	1			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:152285143C>T	ENST00000368799.1	-	3	2254	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	740	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R740L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGACCCTCGGTGTCCACT	0.577									Ichthyosis				250	325					0	0	0	0	T	152285143	C	T	152285143	3	4	179	1	0	0	0	0	1	0	0	0	5967	884	31	1	9970	1	FLG	1	152285143	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	156298	152285143	96965478	4	31507											
ASPM	259266	broad.mit.edu	37	chr1	197069707	197069707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacagaaatgctctgtagtGattttgtaaaaccactgctg	13	12	9	7	0	1	3	0	1	1	2	1	3	1	3	1	0	3	4	1	0	4	4			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:197069707G>A	ENST00000367409.4	-	18	8930	c.8674C>T	c.(8674-8676)Cac>Tac	p.H2892Y	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2892					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTCTGTAGTGATTTTGTAAA	0.343													24	26					0	0	0	0	A	197069707	G	A	197069707	3	1	179	1	0	0	0	0	1	0	0	0	1060	1290	45	2	1803	2	ASPM	1	197069707	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	44784564	197069707	52180914	5	31508											
TPO	7173	broad.mit.edu	37	chr2	1459985	1459985	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaccacagagcaccagcaaAgctgccttcgggggaggggc	11	3	14	13	1	0	1	0	0	0	1	1	2	0	2	3	4	4	3	3	4	1	1			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:1459985A>G	ENST00000345913.4	+	7	841	c.750A>G	c.(748-750)aaA>aaG	p.K250K	TPO_ENST00000337415.3_Silent_p.K250K|TPO_ENST00000346956.3_Silent_p.K250K|TPO_ENST00000382201.3_Silent_p.K250K|TPO_ENST00000329066.4_Silent_p.K250K|TPO_ENST00000349624.3_Silent_p.K250K|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Silent_p.K250K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	250					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCACCAGCAAAGCTGCCTTCG	0.483													11	20					0	0	0	0	G	1459985	A	G	1459985	2	3	179	1	0	0	0	0	0	0	0	1	16505	69	3	5		5	TPO	2	1459985	Silent	SNP	A	TCGA-CR-6473-01A-11D-1870-08		1459985	241739388	6	31509											
PLEKHH2	130271	broad.mit.edu	37	chr2	43871918	43871918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaagcaagcaagatacgaGagcttttagcagagaaggta	16	8	11	6	1	1	3	1	0	0	3	1	5	1	3	0	1	5	5	0	1	7	5			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:43871918G>A	ENST00000282406.4	+	2	216	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	36						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAAGATACGAGAGCTTTTAGC	0.398													20	27					0	0	0	0	A	43871918	G	A	43871918	3	1	179	1	0	0	0	0	1	0	0	0	12149	943	33	2	108	2	PLEKHH2	2	43871918	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	42411933	43871918	199327455	7	31510											
FAM178B	51252	broad.mit.edu	37	chr2	97543732	97543732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggggctctcccggatctgCgtgctgatgtggcggtccaa	4	10	16	11	3	2	1	0	1	2	0	4	2	3	2	2	5	2	2	2	5	1	0	rs145363262		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:97543732C>T	ENST00000417561.3	-	20	2345	c.2346G>A	c.(2344-2346)acG>acA	p.T782T	FAM178B_ENST00000393526.2_Silent_p.T74T|FAM178B_ENST00000490605.2_Silent_p.T634T|FAM178B_ENST00000327896.3_Silent_p.T602T|FAM178B_ENST00000470789.1_5'UTR			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	782										large_intestine(1)|ovary(1)	2						CCCGGATCTGCGTGCTGATGT	0.647													15	25					0	0	0	0	T	97543732	C	T	97543732	2	4	179	1	0	0	0	0	0	0	0	1	5545	755	27	1		1	FAM178B	2	97543732	Silent	SNP	C	TCGA-CR-6473-01A-11D-1870-08	53671814	97543732	145655641	8	31511											
TSGA10	80705	broad.mit.edu	37	chr2	99721848	99721848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactgtacactccagctcctCtatcctttgttccaggtgag	8	13	7	13	0	1	1	0	1	1	0	5	1	5	1	4	1	3	3	4	1	3	4			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:99721848C>G	ENST00000393483.3	-	9	1277	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	TSGA10_ENST00000539964.1_Missense_Mutation_p.E145Q|TSGA10_ENST00000355053.4_Missense_Mutation_p.E145Q|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.E145Q|TSGA10_ENST00000542655.1_Missense_Mutation_p.E145Q	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	145					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCCAGCTCCTCTATCCTTTGT	0.338													25	42					0	0	0	0	G	99721848	C	G	99721848	3	3	179	1	0	0	0	0	1	0	0	0	16712	922	32	2	1715	2	TSGA10	2	99721848	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	2178116	99721848	143477525	9	31512											
R3HDM1	23518	broad.mit.edu	37	chr2	136399147	136399147	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagggtcatctacaggctctCtttctcacatccagcagcct	8	12	7	14	0	4	0	2	0	3	0	7	0	5	0	2	2	3	2	2	2	2	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:136399147C>G	ENST00000264160.4	+	15	1631	c.1261C>G	c.(1261-1263)Ctt>Gtt	p.L421V	R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000409606.1_Missense_Mutation_p.L421V|R3HDM1_ENST00000410054.1_Missense_Mutation_p.L365V|R3HDM1_ENST00000409478.1_Intron	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	421							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TACAGGCTCTCTTTCTCACAT	0.438													46	65					0	0	0	0	G	136399147	C	G	136399147	3	3	179	1	0	0	0	0	1	0	0	0	12969	913	32	2	1311	2	R3HDM1	2	136399147	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	36677299	136399147	106800226	10	31513											
SCN9A	6335	broad.mit.edu	37	chr2	167143021	167143021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctttcttctgtttcttCtttctttagcacttttagag	4	25	4	8	0	6	1	0	0	6	1	6	1	6	1	0	0	1	2	0	0	2	11			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:167143021C>T	ENST00000375387.4	-	11	1770	c.1430G>A	c.(1429-1431)aGa>aAa	p.R477K	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R476K|SCN9A_ENST00000409435.1_Missense_Mutation_p.R476K|SCN9A_ENST00000303354.6_Missense_Mutation_p.R477K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	476						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTGTTTCTTCTTTCTTTAGC	0.408													25	29					0	0	0	0	T	167143021	C	T	167143021	3	4	179	1	0	0	0	0	1	0	0	0	14012	913	32	2	4574	2	SCN9A	2	167143021	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	30743874	167143021	76056352	11	31514											
ZNF804A	91752	broad.mit.edu	37	chr2	185801739	185801740	+	Frame_Shift_Ins	INS	-	-	A																															tccagtagttgtgattctggINSaaaaaatgagaacacaggtc																										TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:185801739_185801740insA	ENST00000302277.6	+	4	2210_2211	c.1616_1617insA	c.(1615-1617)gaafs	p.E539fs		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	539						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGTGATTCTGGAAAAAATGAGA	0.347													12	31	---	---	---	---					A	185801740	-	A	185801739	7	5	179	1	0	1	1	0	0	0	0	0	18263	1174	41	0	1630	0	ZNF804A	2	185801739	Frame_Shift_Ins	INS	-	TCGA-CR-6473-01A-11D-1870-08	18658718	185801739	57397634	12	31515											
DNAH7	56171	broad.mit.edu	37	chr2	196602680	196602680	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataacagtgctacacctcGtccaatccagtgttccttgg	10	11	7	13	1	0	0	0	0	0	0	4	0	3	0	4	1	3	2	4	1	3	4			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:196602680G>A	ENST00000312428.6	-	65	12140	c.12040C>T	c.(12040-12042)Cga>Tga	p.R4014*	DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Nonsense_Mutation_p.R497*	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	4014					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCTACACCTCGTCCAATCCAG	0.433													21	24					0	0	0	0	A	196602680	G	A	196602680	4	1	179	1	0	0	0	0	0	1	0	0	4642	1153	40	1	38	1	DNAH7	2	196602680	Nonsense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	10800941	196602680	46596693	13	31516											
ALS2CR11	151254	broad.mit.edu	37	chr2	202430560	202430560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtctggggataagaatGctggatattctactgtctgt	9	14	12	6	0	4	1	1	0	3	1	4	3	4	3	0	4	2	1	0	4	4	4			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:202430560G>A	ENST00000439140.1	-	9	913	c.869C>T	c.(868-870)gCa>gTa	p.A290V	ALS2CR11_ENST00000439802.1_Missense_Mutation_p.A290V|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.A290V|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.A290V	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	290										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GGATAAGAATGCTGGATATTC	0.393													7	17					0	0	0	0	A	202430560	G	A	202430560	3	1	179	1	0	0	0	0	1	0	0	0	552	1319	46	4	4772	4	ALS2CR11	2	202430560	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	5827880	202430560	40768813	14	31517											
BCS1L	617	broad.mit.edu	37	chr2	219527690	219527690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcttccaccgaggcccGcatcgtgttcatgaccacca	7	9	10	15	3	1	1	1	1	0	0	3	2	2	1	5	2	0	3	5	2	0	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:219527690G>A	ENST00000431802.1	+	7	1673	c.974G>A	c.(973-975)cGc>cAc	p.R325H	BCS1L_ENST00000392111.2_Missense_Mutation_p.R325H|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000439945.1_Missense_Mutation_p.R325H|BCS1L_ENST00000392110.2_Missense_Mutation_p.R325H|BCS1L_ENST00000392109.1_Missense_Mutation_p.R325H|BCS1L_ENST00000412366.1_Missense_Mutation_p.R325H|BCS1L_ENST00000359273.3_Missense_Mutation_p.R325H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	325					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCGAGGCCCGCATCGTGTTC	0.582													4	96					0	0	0	0	A	219527690	G	A	219527690	3	1	179	1	0	0	0	0	1	0	0	0	1393	1087	38	1	996	1	BCS1L	2	219527690	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	17097130	219527690	23671683	15	31518											
TTLL3	26140	broad.mit.edu	37	chr3	9877030	9877030	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctagggaagcccctgcttCgattccccactgcccttgtc	6	10	9	16	1	0	0	0	0	0	0	3	2	1	1	5	1	4	2	5	1	2	4			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:9877030C>T	ENST00000547186.1	+	13	2392	c.2176C>T	c.(2176-2178)Cga>Tga	p.R726*	TTLL3_ENST00000426895.4_Nonsense_Mutation_p.R869*|TTLL3_ENST00000430793.1_3'UTR|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000397241.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000383827.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	726					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GCCCCTGCTTCGATTCCCCAC	0.547													45	12					0	0	0	0	T	9877030	C	T	9877030	4	4	179	1	0	0	0	0	0	1	0	0	16824	876	31	1	2222	1	TTLL3	3	9877030	Nonsense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08		9877030	188145400	16	31519											
SATB1	6304	broad.mit.edu	37	chr3	18391090	18391090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgccgtggggggagccgagGgcctgtctgtggctgctgct	2	10	19	10	2	1	0	0	0	1	0	1	2	1	1	3	5	4	3	3	5	0	1			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:18391090G>T	ENST00000338745.6	-	11	3598	c.1864C>A	c.(1864-1866)Cct>Act	p.P622T	SATB1_ENST00000454909.2_Missense_Mutation_p.P622T|SATB1_ENST00000417717.2_Missense_Mutation_p.P654T|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	622					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGGAGCCGAGGGCCTGTCTGT	0.607													22	4					2.70639e-06	2.89669e-06	1	0	T	18391090	G	T	18391090	3	4	179	1	0	0	0	0	1	0	0	0	13939	1232	43	4	431	4	SATB1	3	18391090	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	8514060	18391090	179631340	17	31520											
ENTPD3	956	broad.mit.edu	37	chr3	40457535	40457535	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatggccggaatgaggctGagaagaagtttctggcaatg	11	9	15	6	1	1	3	0	2	1	2	1	5	1	4	1	4	0	4	1	4	5	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:40457535G>T	ENST00000301825.3	+	7	920	c.802G>T	c.(802-804)Gag>Tag	p.E268*	ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Nonsense_Mutation_p.E268*|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Nonsense_Mutation_p.E268*|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	268						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GAATGAGGCTGAGAAGAAGTT	0.552													15	5					4.14922e-12	4.54754e-12	1	0	T	40457535	G	T	40457535	4	4	179	1	0	0	0	0	0	1	0	0	5178	1291	45	2	824	2	ENTPD3	3	40457535	Nonsense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	22066445	40457535	157564895	18	31521											
USP19	10869	broad.mit.edu	37	chr3	49149394	49149394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcataagtgaggcgtgaGgcaggtacactgaccaggaa	12	5	16	8	2	0	3	0	3	0	0	0	4	0	4	1	5	1	3	1	5	3	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:49149394G>A	ENST00000453664.1	-	20	3135	c.2817C>T	c.(2815-2817)gcC>gcT	p.A939A	USP19_ENST00000398892.3_Silent_p.A888A|USP19_ENST00000398896.1_Silent_p.A656A|USP19_ENST00000398898.2_Silent_p.A888A|USP19_ENST00000398888.2_Silent_p.A848A|USP19_ENST00000434032.2_Silent_p.A949A|USP19_ENST00000417901.1_Silent_p.A951A	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	848					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAGGCGTGAGGCAGGTACAC	0.607													14	7					0	0	0	0	A	49149394	G	A	49149394	2	1	179	1	0	0	0	0	0	0	0	1	17146	987	35	4		4	USP19	3	49149394	Silent	SNP	G	TCGA-CR-6473-01A-11D-1870-08	8691859	49149394	148873036	19	31522											
GNL3	26354	broad.mit.edu	37	chr3	52720819	52720819	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaaacgcatgacctgccaTaagcggtataaaatccaaaa	18	7	7	9	2	0	1	0	1	0	0	1	1	1	1	3	1	3	3	3	1	8	4			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:52720819T>C	ENST00000394799.2	+	2	222	c.12T>C	c.(10-12)caT>caC	p.H4H	GNL3_ENST00000460073.1_Intron|GNL3_ENST00000418458.1_Silent_p.H16H	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	16	Basic (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TGACCTGCCATAAGCGGTATA	0.398													18	7					0	0	0	0	C	52720819	T	C	52720819	2	2	179	1	0	0	0	0	0	0	0	1	6588	1403	49	5		5	GNL3	3	52720819	Silent	SNP	T	TCGA-CR-6473-01A-11D-1870-08	3571425	52720819	145301611	20	31523											
ITIH1	3697	broad.mit.edu	37	chr3	52825552	52825552	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaatttttccaccccatCggttttgaagtgtctgacat	8	14	9	10	1	1	2	0	2	1	0	3	2	2	2	3	2	0	2	3	2	2	4	rs143276781	byFrequency	TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:52825552C>T	ENST00000273283.2	+	21	2538	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Silent_p.I696I|ITIH1_ENST00000537050.1_Silent_p.I550I|ITIH1_ENST00000405128.3_Silent_p.I204I	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	838	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.I838I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCCACCCCATCGGTTTTGAAG	0.597													21	4					0	0	0	0	T	52825552	C	T	52825552	2	4	179	1	0	0	0	0	0	0	0	1	7956	874	31	1		1	ITIH1	3	52825552	Silent	SNP	C	TCGA-CR-6473-01A-11D-1870-08	104733	52825552	145196878	21	31524											
DCP1A	55802	broad.mit.edu	37	chr3	53376252	53376252	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggttcaactagattgtgcaTatttagtcgattcacaatgg	11	15	9	6	1	2	1	2	0	0	1	3	2	2	1	0	2	2	2	0	2	5	7			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:53376252T>C	ENST00000607628.1	-	3	332	c.223A>G	c.(223-225)Atg>Gtg	p.M75V	DCP1A_ENST00000606822.1_Missense_Mutation_p.M75V|DCP1A_ENST00000294241.6_Missense_Mutation_p.M75V|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	75					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		AGATTGTGCATATTTAGTCGA	0.318													7	1					0	0	0	0	C	53376252	T	C	53376252	3	2	179	1	0	0	0	0	1	0	0	0	4330	1406	49	5	1557	5	DCP1A	3	53376252	Missense_Mutation	SNP	T	TCGA-CR-6473-01A-11D-1870-08	550700	53376252	144646178	22	31525											
PHLDB2	90102	broad.mit.edu	37	chr3	111637948	111637948	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtataagtgaagaacagagAtctcaggagttggctgcaat	14	9	13	5	0	1	3	1	1	1	2	2	5	1	4	0	3	2	4	0	3	5	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:111637948A>T	ENST00000431670.2	+	4	2160	c.1749A>T	c.(1747-1749)agA>agT	p.R583S	PHLDB2_ENST00000495180.1_Missense_Mutation_p.R169S|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R583S|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R583S|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R583S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R610S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	583						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGAACAGAGATCTCAGGAGT	0.403													53	157					0	0	0	0	T	111637948	A	T	111637948	3	4	179	1	0	0	0	0	1	0	0	0	11924	330	12	5	1844	5	PHLDB2	3	111637948	Missense_Mutation	SNP	A	TCGA-CR-6473-01A-11D-1870-08	58261696	111637948	86384482	23	31526											
KALRN	8997	broad.mit.edu	37	chr3	124053163	124053163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgcagcggcccctgagcCctgggaactccgaatccctc	6	7	11	17	2	0	1	0	1	0	0	3	3	2	2	5	2	5	2	5	2	2	0			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:124053163C>T	ENST00000360013.3	+	9	1589	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	KALRN_ENST00000460856.1_Missense_Mutation_p.P488S|KALRN_ENST00000240874.3_Missense_Mutation_p.P488S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	488					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCCCCTGAGCCCTGGGAACTC	0.567													35	100					0	0	0	0	T	124053163	C	T	124053163	3	4	179	1	0	0	0	0	1	0	0	0	8028	623	22	4	1496	4	KALRN	3	124053163	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	12415215	124053163	73969267	24	31527											
CLDN1	9076	broad.mit.edu	37	chr3	190026161	190026161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacaggaacagcaaagtaGggcacctcccagaaggcaga	15	2	14	10	0	0	2	0	0	0	2	1	4	1	4	2	4	2	4	2	4	4	1			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:190026161G>A	ENST00000295522.3	-	4	809	c.541C>T	c.(541-543)Cta>Tta	p.L181L		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	181					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		CAGCAAAGTAGGGCACCTCCC	0.512													22	119					0	0	0	0	A	190026161	G	A	190026161	2	1	179	1	0	0	0	0	0	0	0	1	3501	991	35	4		4	CLDN1	3	190026161	Silent	SNP	G	TCGA-CR-6473-01A-11D-1870-08	65972998	190026161	7996269	25	31528											
ATP13A5	344905	broad.mit.edu	37	chr3	193068904	193068904	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagataacagtcaaaatGatgatggccacagagtattc	16	9	10	6	0	1	4	1	2	0	2	2	5	1	4	1	2	1	1	1	2	4	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:193068904G>A	ENST00000342358.4	-	7	810	c.693C>T	c.(691-693)atC>atT	p.I231I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	231					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)		CAGTCAAAATGATGATGGCCA	0.393													30	58					0	0	0	0	A	193068904	G	A	193068904	2	1	179	1	0	0	0	0	0	0	0	1	1131	1280	45	2		2	ATP13A5	3	193068904	Silent	SNP	G	TCGA-CR-6473-01A-11D-1870-08	3042743	193068904	4953526	26	31529											
SENP5	205564	broad.mit.edu	37	chr3	196657755	196657755	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgccccgagtgcggaagagGatttacaaggagctatgtga	12	8	14	7	2	0	2	0	1	0	1	0	6	0	5	2	3	4	1	2	3	4	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:196657755G>C	ENST00000323460.5	+	10	2478	c.2229G>C	c.(2227-2229)agG>agC	p.R743S	SENP5_ENST00000419026.1_Missense_Mutation_p.R233S|SENP5_ENST00000445299.2_Missense_Mutation_p.R697S	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	743					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TGCGGAAGAGGATTTACAAGG	0.488													22	61					0	0	0	0	C	196657755	G	C	196657755	3	2	179	1	0	0	0	0	1	0	0	0	14136	1165	41	2	2263	2	SENP5	3	196657755	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	3588851	196657755	1364675	27	31530											
CEP135	9662	broad.mit.edu	37	chr4	56841014	56841014	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatttctgaaaggtatagAagaagaacgagattattata	18	12	8	3	1	1	5	0	1	1	4	1	6	1	5	0	1	2	1	0	1	10	7			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr4:56841014A>G	ENST00000257287.4	+	11	1476	c.1352A>G	c.(1351-1353)gAa>gGa	p.E451G		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	451					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AAAGGTATAGAAGAAGAACGA	0.388													30	44					0	0	0	0	G	56841014	A	G	56841014	3	3	179	1	0	0	0	0	1	0	0	0	3276	246	9	5	1390	5	CEP135	4	56841014	Missense_Mutation	SNP	A	TCGA-CR-6473-01A-11D-1870-08		56841014	134313262	28	31531											
GRIA2	2891	broad.mit.edu	37	chr4	158254056	158254056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaagaattgaaatctcccGaagggggaatgcaggagact	15	6	13	7	1	1	3	0	1	1	2	2	6	1	4	1	3	1	2	1	3	5	1	rs142538282	byFrequency	TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr4:158254056G>A	ENST00000296526.7	+	7	1293	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	GRIA2_ENST00000393815.2_Missense_Mutation_p.R276Q|GRIA2_ENST00000507898.1_Missense_Mutation_p.R276Q|GRIA2_ENST00000264426.9_Missense_Mutation_p.R323Q|GRIA2_ENST00000449365.1_Missense_Mutation_p.R276Q	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	323					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GAAATCTCCCGAAGGGGGAAT	0.478													39	57					0	0	0	0	A	158254056	G	A	158254056	3	1	179	1	0	0	0	0	1	0	0	0	6818	1058	37	1	994	1	GRIA2	4	158254056	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	101413042	158254056	32900220	29	31532											
PTCD2	79810	broad.mit.edu	37	chr5	71654182	71654182	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggacaggaaatctcacacGttgctattaaacaagaggat	16	8	10	7	1	1	1	1	0	1	1	2	4	1	4	0	3	2	2	0	3	5	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr5:71654182G>A	ENST00000380639.5	+	10	1111	c.1095G>A	c.(1093-1095)acG>acA	p.T365T	PTCD2_ENST00000503868.1_Silent_p.T256T|PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000536805.1_Silent_p.T193T	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	365										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		AATCTCACACGTTGCTATTAA	0.532													31	23					0	0	0	0	A	71654182	G	A	71654182	2	1	179	1	0	0	0	0	0	0	0	1	12807	1132	40	1		1	PTCD2	5	71654182	Silent	SNP	G	TCGA-CR-6473-01A-11D-1870-08		71654182	109261078	30	31533											
MARCH3	115123	broad.mit.edu	37	chr5	126206381	126206381	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggaggcccagcaaggacgGctggttagaaggtacattga	12	7	15	7	1	0	2	0	1	0	1	0	4	0	4	1	6	2	4	1	6	4	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr5:126206381G>C	ENST00000308660.5	-	5	1220	c.706C>G	c.(706-708)Ccg>Gcg	p.P236A		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	236					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		AGCAAGGACGGCTGGTTAGAA	0.463													35	79					0	0	0	0	C	126206381	G	C	126206381	3	2	179	1	0	0	0	0	1	0	0	0	9371	1203	42	4	59	4	MARCH3	5	126206381	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	54552199	126206381	54708879	31	31534											
KLHL3	26249	broad.mit.edu	37	chr5	136974777	136974777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatacacatccactgtccGcacccgcagtgagccattaa	11	8	7	15	2	1	1	1	1	0	0	3	1	3	1	4	0	2	2	4	0	2	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr5:136974777G>A	ENST00000508657.1	-	10	1702	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	KLHL3_ENST00000309755.4_Missense_Mutation_p.R362W|KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000506491.1_Missense_Mutation_p.R280W|KLHL3_ENST00000506873.1_5'UTR	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	362						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TCCACTGTCCGCACCCGCAGT	0.592													3	31					0	0	0	0	A	136974777	G	A	136974777	3	1	179	1	0	0	0	0	1	0	0	0	8435	1086	38	1	703	1	KLHL3	5	136974777	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	10768396	136974777	43940483	32	31535											
MFAP3	4238	broad.mit.edu	37	chr5	153429537	153429537	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactatgaagatgtccattgGcacaattcaaaaggacagca	16	8	8	9	0	1	2	1	1	0	1	2	3	2	3	1	2	1	2	1	2	5	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr5:153429537G>A	ENST00000436816.1	+	2	474	c.255G>A	c.(253-255)tgG>tgA	p.W85*	MFAP3_ENST00000322602.5_Nonsense_Mutation_p.W85*|MFAP3_ENST00000439768.2_Intron	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	85	Ig-like C2-type.					integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATGTCCATTGGCACAATTCAA	0.418													18	32					0	0	0	0	A	153429537	G	A	153429537	4	1	179	1	0	0	0	0	0	1	0	0	9584	1212	42	4	257	4	MFAP3	5	153429537	Nonsense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	16454760	153429537	27485723	33	31536											
BTN3A3	10384	broad.mit.edu	37	chr6	26448955	26448955	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctattcattccattgcaGagtggaggaaaatccagtac	12	11	8	10	0	1	1	1	0	0	1	4	3	4	3	3	2	2	2	3	2	4	5			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr6:26448955G>A	ENST00000244519.2	+	8	1180		c.e8-1		BTN3A3_ENST00000361232.3_Splice_Site|BTN3A3_ENST00000339789.4_Splice_Site	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3							integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TTCCATTGCAGAGTGGAGGAA	0.448													47	72					0	0	0	0	A	26448955	G	A	26448955	5	1	179	1	0	0	0	0	0	0	1	0	1573	956	33	2	959	2	BTN3A3	6	26448955	Splice_Site	SNP	G	TCGA-CR-6473-01A-11D-1870-08		26448955	144666112	34	31537											
OR12D2	26529	broad.mit.edu	37	chr6	29365090	29365090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tactgtcacggggacaattgCcatgggccccttctttctga	7	12	10	12	1	3	1	1	1	2	0	3	2	3	2	3	3	2	0	3	3	2	4			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr6:29365090C>G	ENST00000383555.2	+	1	675	c.614C>G	c.(613-615)gCc>gGc	p.A205G	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A205V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGGACAATTGCCATGGGCCCC	0.448													59	87					0	0	0	0	G	29365090	C	G	29365090	3	3	179	1	0	0	0	0	1	0	0	0	11002	739	26	4	616	4	OR12D2	6	29365090	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	2916135	29365090	141749977	35	31538											
IGF2R	3482	broad.mit.edu	37	chr6	160469544	160469544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggctgcaaccgatatgcatCggcttgccagatgaagtatg	10	9	13	9	2	0	2	0	1	0	1	1	3	0	2	2	2	4	5	2	2	4	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr6:160469544C>T	ENST00000356956.1	+	18	2631	c.2483C>T	c.(2482-2484)tCg>tTg	p.S828L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	828					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CGATATGCATCGGCTTGCCAG	0.483													18	6					0	0	0	0	T	160469544	C	T	160469544	3	4	179	1	0	0	0	0	1	0	0	0	7629	893	31	1	2553	1	IGF2R	6	160469544	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	131104454	160469544	10645523	36	31539											
PDE1C	5137	broad.mit.edu	37	chr7	31890345	31890345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaaagatctccagctccGtcagccagttctgaaaggag	12	8	10	11	1	3	2	1	1	2	1	5	3	4	3	3	1	3	3	3	1	3	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr7:31890345G>A	ENST00000396184.3	-	9	965	c.761C>T	c.(760-762)aCg>aTg	p.T254M	PDE1C_ENST00000396182.2_Missense_Mutation_p.T254M|PDE1C_ENST00000396193.1_Missense_Mutation_p.T314M|PDE1C_ENST00000321453.7_Missense_Mutation_p.T254M|PDE1C_ENST00000396191.1_Missense_Mutation_p.T254M	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	254	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTCCAGCTCCGTCAGCCAGTT	0.463													35	11					0	0	0	0	A	31890345	G	A	31890345	3	1	179	1	0	0	0	0	1	0	0	0	11706	1145	40	1	1183	1	PDE1C	7	31890345	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08		31890345	127248318	37	31540											
MUC17	140453	broad.mit.edu	37	chr7	100685655	100685655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgaccatttctgaggctgGcacagcttcaacacttcctg	8	11	10	12	0	2	2	1	2	1	0	3	2	3	2	2	3	2	3	2	3	1	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr7:100685655G>A	ENST00000306151.4	+	3	11022	c.10958G>A	c.(10957-10959)gGc>gAc	p.G3653D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3653	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGAGGCTGGCACAGCTTCA	0.493													4	177					0	0	0	0	A	100685655	G	A	100685655	3	1	179	1	0	0	0	0	1	0	0	0	10044	1203	42	4	10968	4	MUC17	7	100685655	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	68795310	100685655	58453008	38	31541											
SSPO	23145	broad.mit.edu	37	chr7	149473162	149473162	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctcctctttgggatggCgtgggccctggctgacgggt	2	11	16	12	2	1	1	0	1	1	0	2	2	2	2	3	5	1	1	3	5	0	1			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr7:149473162C>T	ENST00000378016.2	+	0	32							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTTGGGATGGCGTGGGCCCTG	0.652													9	8					0	0	0	0	T	149473162	C	T	149473162	1	4	179	0	1	0	0	0	0	0	0	0	15279	768	27	1		1	SSPO	7	149473162	RNA	SNP	C	TCGA-CR-6473-01A-11D-1870-08	48787507	149473162	9665501	39	31542											
UPF2	26019	broad.mit.edu	37	chr10	11997456	11997456	+	Frame_Shift_Del	DEL	T	T	-																															cggtaattgtaaagttctccTaagaacttggcactgctgat																										TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:11997456delT	ENST00000356352.2	-	13	3098	c.2625delA	c.(2623-2625)ttfs	p.L875fs	UPF2_ENST00000357604.5_Frame_Shift_Del_p.L875fs|UPF2_ENST00000397053.2_Frame_Shift_Del_p.L875fs			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	875	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AAAGTTCTCCTAAGAACTTGG	0.368													31	53	---	---	---	---					-	11997456	T	-	11997456	7	5	179	1	0	1	0	1	0	0	0	0	17100	1519	53	0	1229	0	UPF2	10	11997456	Frame_Shift_Del	DEL	T	TCGA-CR-6473-01A-11D-1870-08		11997456	123537291	40	31543											
PCDH15	65217	broad.mit.edu	37	chr10	56138640	56138640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attatcctttaaagaaagttCtatggtggggtctggtcctc	9	15	10	7	0	2	1	0	0	2	1	5	1	4	1	2	4	0	1	2	4	5	5			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:56138640C>T	ENST00000373965.2	-	4	614	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	PCDH15_ENST00000373955.1_Missense_Mutation_p.E74K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E74K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E74K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E74K|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E74K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E52K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E74K|PCDH15_ENST00000395442.1_Missense_Mutation_p.E74K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E74K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E79K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E52K|PCDH15_ENST00000395440.1_Missense_Mutation_p.E74K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E74K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E74K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	74	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAAGAAAGTTCTATGGTGGGG	0.428										HNSCC(58;0.16)			53	108					0	0	0	0	T	56138640	C	T	56138640	3	4	179	1	0	0	0	0	1	0	0	0	11582	922	32	2	7411	2	PCDH15	10	56138640	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	44141184	56138640	79396107	41	31544											
TTC18	118491	broad.mit.edu	37	chr10	75035242	75035242	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttgttgaaggtattcctCtgccttggcaaagttcttct	6	17	9	9	0	3	1	0	1	3	0	4	1	4	1	2	2	2	5	2	2	3	7			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:75035242C>G	ENST00000401621.2	-	23	2965	c.2845G>C	c.(2845-2847)Gag>Cag	p.E949Q	TTC18_ENST00000394865.1_Missense_Mutation_p.E949Q|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.E418Q|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000310715.3_Missense_Mutation_p.E949Q|DNAJC9-AS1_ENST00000440197.2_RNA			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	949							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AGGTATTCCTCTGCCTTGGCA	0.473													76	76					0	0	0	0	G	75035242	C	G	75035242	3	3	179	1	0	0	0	0	1	0	0	0	16781	922	32	2	544	2	TTC18	10	75035242	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	18896602	75035242	60499505	42	31545											
CWF19L1	55280	broad.mit.edu	37	chr10	101997927	101997927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaccactgactggtagtgtCcaataggcaggatgaggaca	12	7	12	10	0	0	2	0	2	0	0	1	4	1	4	3	4	0	2	3	4	3	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:101997927C>T	ENST00000354105.4	-	11	1192	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.G124E	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	369							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CTGGTAGTGTCCAATAGGCAG	0.498													64	120					0	0	0	0	T	101997927	C	T	101997927	3	4	179	1	0	0	0	0	1	0	0	0	4103	855	30	2	526	2	CWF19L1	10	101997927	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	26962685	101997927	33536820	43	31546											
CNNM2	54805	broad.mit.edu	37	chr10	104678631	104678631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcggcgccacagcccggggGagcgcgggctggggggcccc	3	1	22	15	5	0	0	0	0	0	0	0	1	0	1	4	8	2	1	4	8	0	0			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:104678631G>C	ENST00000369878.3	+	1	518	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	CNNM2_ENST00000369875.3_Missense_Mutation_p.E132Q|CNNM2_ENST00000433628.2_Missense_Mutation_p.E132Q	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	132					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAgcccgggggagcgcgggct	0.692													20	19					0	0	0	0	C	104678631	G	C	104678631	3	2	179	1	0	0	0	0	1	0	0	0	3643	1175	41	2	396	2	CNNM2	10	104678631	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	2680704	104678631	30856116	44	31547											
DMBT1	1755	broad.mit.edu	37	chr10	124380632	124380632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaggtgtcgaggccgaGtggaggtcctgtatcgaggc	7	8	18	8	3	0	1	0	1	0	0	3	5	1	2	2	5	0	1	2	5	1	1			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:124380632G>T	ENST00000338354.3	+	41	5063	c.4957G>T	c.(4957-4959)Gtg>Ttg	p.V1653L	DMBT1_ENST00000330163.4_Missense_Mutation_p.V1025L|DMBT1_ENST00000344338.3_Missense_Mutation_p.V1643L|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1025L|DMBT1_ENST00000368955.3_Missense_Mutation_p.V1643L|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.V1653L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1653	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCGAGGCCGAGTGGAGGTCCT	0.562													130	207					4.56115e-48	5.20731e-48	1	0	T	124380632	G	T	124380632	3	4	179	1	0	0	0	0	1	0	0	0	4614	1029	36	4	5119	4	DMBT1	10	124380632	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	19702001	124380632	11154115	45	31548											
OR52B2	255725	broad.mit.edu	37	chr11	6190885	6190885	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcaaacgaaacactgctcgGaggatcagtgagtaagacac	15	5	12	9	2	1	2	1	1	0	1	2	5	1	4	0	3	3	3	0	3	3	1			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:6190885G>A	ENST00000530810.1	-	1	753	c.672C>T	c.(670-672)ctC>ctT	p.L224L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACACTGCTCGGAGGATCAGTG	0.498													15	21					0	0	0	0	A	6190885	G	A	6190885	2	1	179	1	0	0	0	0	0	0	0	1	11182	1161	41	2		2	OR52B2	11	6190885	Silent	SNP	G	TCGA-CR-6473-01A-11D-1870-08		6190885	128815631	46	31549											
PSMA1	5682	broad.mit.edu	37	chr11	14632514	14632514	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaagatattctcacctTcaccttgctgagctgcataa	13	11	6	11	0	2	2	2	1	1	1	3	2	2	2	2	0	4	4	2	0	4	5			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:14632514T>A	ENST00000418988.2	-	2	346	c.19A>T	c.(19-21)Aag>Tag	p.K7*		NM_148976.2	NP_683877.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						ATTCTCACCTTCACCTTGCTG	0.418													7	17					0	0	0	0	A	14632514	T	A	14632514	4	1	179	1	0	0	0	0	0	1	0	0	12745	1792	62	5	887	5	PSMA1	11	14632514	Nonsense_Mutation	SNP	T	TCGA-CR-6473-01A-11D-1870-08	8441629	14632514	120374002	47	31550											
KCNC1	3746	broad.mit.edu	37	chr11	17793798	17793798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagcacacgcactttaagaAcatccccatcggcttctggt	10	10	8	13	2	1	2	0	1	1	1	3	2	2	2	2	2	2	3	2	2	2	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:17793798A>G	ENST00000379472.3	+	2	1187	c.1157A>G	c.(1156-1158)aAc>aGc	p.N386S	KCNC1_ENST00000265969.6_Missense_Mutation_p.N386S	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	386						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CACTTTAAGAACATCCCCATC	0.617													29	50					0	0	0	0	G	17793798	A	G	17793798	3	3	179	1	0	0	0	0	1	0	0	0	8067	43	2	5	1163	5	KCNC1	11	17793798	Missense_Mutation	SNP	A	TCGA-CR-6473-01A-11D-1870-08	3161284	17793798	117212718	48	31551											
GTF2H1	2965	broad.mit.edu	37	chr11	18359808	18359808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagcaggatgttggcatttCtgctgcatttctggtatgtg	7	16	12	6	0	2	0	0	0	2	0	2	1	2	1	0	3	3	6	0	3	2	5			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:18359808C>G	ENST00000265963.4	+	4	660	c.500C>G	c.(499-501)tCt>tGt	p.S167C	GTF2H1_ENST00000534641.1_Missense_Mutation_p.S51C|GTF2H1_ENST00000453096.2_Missense_Mutation_p.S167C|GTF2H1_ENST00000524753.4_5'UTR	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	167					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GTTGGCATTTCTGCTGCATTT	0.368								Nucleotide excision repair (NER)					52	64					0	0	0	0	G	18359808	C	G	18359808	3	3	179	1	0	0	0	0	1	0	0	0	6910	913	32	2	510	2	GTF2H1	11	18359808	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	566010	18359808	116646708	49	31552											
NPAS4	266743	broad.mit.edu	37	chr11	66191925	66191925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcacagccaccttcccagagCctctgggcagccctgcccat	7	6	9	19	0	1	1	0	0	1	1	2	1	2	1	6	1	4	2	6	1	0	1			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:66191925C>T	ENST00000311034.2	+	7	1740	c.1564C>T	c.(1564-1566)Cct>Tct	p.P522S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	522					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTTCCCAGAGCCTCTGGGCAG	0.597													6	216					0	0	0	0	T	66191925	C	T	66191925	3	4	179	1	0	0	0	0	1	0	0	0	10635	739	26	4	1590	4	NPAS4	11	66191925	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	47832117	66191925	68814591	50	31553											
PGR	5241	broad.mit.edu	37	chr11	100999748	100999748	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccgacctcgggggagggCgggccgcccgccacgtgggg	4	3	20	14	6	0	0	0	0	0	0	2	3	1	1	5	6	0	0	5	6	0	0			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:100999748C>T	ENST00000325455.5	-	1	1507	c.54G>A	c.(52-54)ccG>ccA	p.P18P	PGR_ENST00000263463.5_Silent_p.P18P|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	18	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CGGGGGAGGGCGGGCCGCCCG	0.682													6	0					0	0	0	0	T	100999748	C	T	100999748	2	4	179	1	0	0	0	0	0	0	0	1	11877	755	27	1		1	PGR	11	100999748	Silent	SNP	C	TCGA-CR-6473-01A-11D-1870-08	34807823	100999748	34006768	51	31554											
KCNA6	3742	broad.mit.edu	37	chr12	4919430	4919430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccctggccggcgagtcCgcttcttcgaccccctgagg	5	7	13	16	4	1	2	0	1	1	1	3	5	2	2	5	3	0	1	5	3	0	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:4919430C>T	ENST00000433855.1	+	1	1089	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	KCNA6_ENST00000280684.3_Missense_Mutation_p.R75C	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	75						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CCGGCGAGTCCGCTTCTTCGA	0.632										HNSCC(72;0.22)			30	29					0	0	0	0	T	4919430	C	T	4919430	3	4	179	1	0	0	0	0	1	0	0	0	8060	652	23	1	225	1	KCNA6	12	4919430	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08		4919430	128932465	52	31555											
BICD1	636	broad.mit.edu	37	chr12	32458713	32458713	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagctggaagatgccaTccgattgaaagagattgctg	12	8	12	9	1	0	3	0	1	0	2	1	6	1	4	3	1	4	2	3	1	2	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:32458713T>A	ENST00000548411.1	+	4	843	c.662T>A	c.(661-663)aTc>aAc	p.I221N	BICD1_ENST00000281474.5_Missense_Mutation_p.I221N	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	221					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GAAGATGCCATCCGATTGAAA	0.463													16	27					0	0	0	0	A	32458713	T	A	32458713	3	1	179	1	0	0	0	0	1	0	0	0	1433	1435	50	5	676	5	BICD1	12	32458713	Missense_Mutation	SNP	T	TCGA-CR-6473-01A-11D-1870-08	27539283	32458713	101393182	53	31556											
PPHLN1	51535	broad.mit.edu	37	chr12	42745801	42745801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgattaccgagactatgacGagggccgcagtttttctcat	9	13	10	9	3	1	3	1	2	1	1	2	5	1	3	2	1	1	2	2	1	2	5			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:42745801G>A	ENST00000395568.2	+	3	271	c.187G>A	c.(187-189)Gag>Aag	p.E63K	PPHLN1_ENST00000549190.1_Missense_Mutation_p.E81K|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000358314.7_Missense_Mutation_p.E63K|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.E70K|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000449194.2_Missense_Mutation_p.E63K|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000550535.1_3'UTR	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	63					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		AGACTATGACGAGGGCCGCAG	0.393													23	18					0	0	0	0	A	42745801	G	A	42745801	3	1	179	1	0	0	0	0	1	0	0	0	12386	1059	37	1	218	1	PPHLN1	12	42745801	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	10287088	42745801	91106094	54	31557											
KRT73	319101	broad.mit.edu	37	chr12	53005099	53005099	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgccggccggctgctagCtgcagctcctggaactagag	7	7	13	14	2	0	1	0	0	0	1	1	2	1	2	4	3	6	5	4	3	3	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:53005099C>G	ENST00000305748.3	-	6	1033	c.999G>C	c.(997-999)caG>caC	p.Q333H	RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	333	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGCTGCTAGCTGCAGCTCCT	0.547													25	27					0	0	0	0	G	53005099	C	G	53005099	3	3	179	1	0	0	0	0	1	0	0	0	8538	796	28	4	639	4	KRT73	12	53005099	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	10259298	53005099	80846796	55	31558											
ACADS	35	broad.mit.edu	37	chr12	121175211	121175211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaggagcagaagcaggCgtgggtcacgcctttcacca	10	6	12	13	2	2	1	2	0	0	1	3	2	3	2	3	3	2	2	3	3	2	1	rs17848085		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:121175211C>T	ENST00000242592.4	+	4	564	c.413C>T	c.(412-414)gCg>gTg	p.A138V	ACADS_ENST00000411593.2_Missense_Mutation_p.A138V	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	138						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CAGAAGCAGGCGTGGGTCACG	0.622													18	31					0	0	0	0	T	121175211	C	T	121175211	3	4	179	1	0	0	0	0	1	0	0	0	114	768	27	1	427	1	ACADS	12	121175211	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	68170112	121175211	12676684	56	31559											
PSPC1	55269	broad.mit.edu	37	chr13	20277482	20277482	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctgagatggtggtccttGaggaaatctgtcattgtgct	8	14	12	7	0	3	2	1	2	2	1	4	4	4	3	1	3	1	1	1	3	1	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr13:20277482G>C	ENST00000338910.4	-	9	1564	c.1405C>G	c.(1405-1407)Caa>Gaa	p.Q469E		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	469	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GGTGGTCCTTGAGGAAATCTG	0.438													11	21					0	0	0	0	C	20277482	G	C	20277482	3	2	179	1	0	0	0	0	1	0	0	0	12795	1299	45	2	170	2	PSPC1	13	20277482	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08		20277482	94892396	57	31560											
BRCA2	675	broad.mit.edu	37	chr13	32972674	32972674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagtaattcaatagctgacGaagaacttgcattgataaat	18	11	7	5	1	1	3	1	2	0	1	1	4	1	3	0	0	3	3	0	0	8	6	rs28897761		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr13:32972674G>A	ENST00000544455.1	+	27	10251	c.10024G>A	c.(10024-10026)Gaa>Aaa	p.E3342K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E3342K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3342					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AATAGCTGACGAAGAACTTGC	0.358			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			10	27					0	0	0	0	A	32972674	G	A	32972674	3	1	179	1	0	0	0	0	1	0	0	0	1507	1059	37	1	10126	1	BRCA2	13	32972674	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	12695192	32972674	82197204	58	31561											
ZIC2	7546	broad.mit.edu	37	chr13	100635350	100635350	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggctgtggcaaagtcttCgcgcgctccgagaacctcaa	8	7	12	14	5	2	1	1	0	1	1	4	2	3	1	3	2	1	3	3	2	3	1			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr13:100635350C>T	ENST00000376335.3	+	1	1325	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	344					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAAAGTCTTCGCGCGCTCCG	0.617													27	41					0	0	0	0	T	100635350	C	T	100635350	2	4	179	1	0	0	0	0	0	0	0	1	17774	883	31	1		1	ZIC2	13	100635350	Silent	SNP	C	TCGA-CR-6473-01A-11D-1870-08	67662676	100635350	14534528	59	31562											
EDDM3A	10876	broad.mit.edu	37	chr14	21216174	21216174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaggattatagaacctatCagcaactagaaagtctatgc	15	10	8	8	0	2	3	1	1	1	2	2	4	2	4	1	1	4	1	1	1	8	5			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr14:21216174C>T	ENST00000326842.2	+	2	562	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	145					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TAGAACCTATCAGCAACTAGA	0.453													22	24					0	0	0	0	T	21216174	C	T	21216174	2	4	179	1	0	0	0	0	0	0	0	1	4945	816	29	2		2	EDDM3A	14	21216174	Silent	SNP	C	TCGA-CR-6473-01A-11D-1870-08		21216174	86133366	60	31563											
FSCB	84075	broad.mit.edu	37	chr14	44975037	44975037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgtgctgagggagacCgaatttcaccaagaagctct	10	11	10	10	1	2	3	1	1	1	2	2	5	2	3	3	1	2	2	3	1	3	3	rs138964489		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr14:44975037C>T	ENST00000340446.4	-	1	1445	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	385	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAGGGAGACCGAATTTCACC	0.527													44	77					0	0	0	0	T	44975037	C	T	44975037	3	4	179	1	0	0	0	0	1	0	0	0	6114	652	23	1	1327	1	FSCB	14	44975037	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	23758863	44975037	62374503	61	31564											
MAP3K9	4293	broad.mit.edu	37	chr14	71267584	71267584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctccttcagacatacccctCttagggcaatgatgttgggg	8	11	11	11	0	2	2	1	1	1	1	3	2	3	2	3	3	1	3	3	3	3	4			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr14:71267584C>T	ENST00000554752.2	-	2	619	c.620G>A	c.(619-621)aGa>aAa	p.R207K	MAP3K9_ENST00000555993.2_Missense_Mutation_p.R207K|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R207K			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	207	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACATACCCCTCTTAGGGCAAT	0.532													41	49					0	0	0	0	T	71267584	C	T	71267584	3	4	179	1	0	0	0	0	1	0	0	0	9326	913	32	2	2784	2	MAP3K9	14	71267584	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	26292547	71267584	36081956	62	31565											
DNAL1	83544	broad.mit.edu	37	chr14	74125657	74125657	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccatgcttgctaattgCgagtaagttctcttttcatc	7	18	7	9	1	2	0	1	0	1	0	5	1	3	0	1	0	3	4	1	0	2	8			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr14:74125657C>T	ENST00000553645.1	+	3	191	c.150C>T	c.(148-150)tgC>tgT	p.C50C	DNAL1_ENST00000540526.1_Silent_p.C11C|DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000554871.1_Silent_p.C11C|DNAL1_ENST00000311089.3_Intron	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	50										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		TTGCTAATTGCGAGTAAGTTC	0.403													122	183					0	0	0	0	T	74125657	C	T	74125657	2	4	179	1	0	0	0	0	0	0	0	1	4693	776	27	1		1	DNAL1	14	74125657	Silent	SNP	C	TCGA-CR-6473-01A-11D-1870-08	2858073	74125657	33223883	63	31566											
DYNC1H1	1778	broad.mit.edu	37	chr14	102509067	102509067	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacgttcagcagcattccCgtctcacggatatgcaaggt	10	9	11	11	3	2	0	2	0	1	0	4	2	3	2	1	3	3	4	1	3	2	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr14:102509067C>T	ENST00000360184.4	+	69	12659	c.12495C>T	c.(12493-12495)ccC>ccT	p.P4165P	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4165	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCAGCATTCCCGTCTCACGGA	0.557													13	14					0	0	0	0	T	102509067	C	T	102509067	2	4	179	1	0	0	0	0	0	0	0	1	4877	639	23	1		1	DYNC1H1	14	102509067	Silent	SNP	C	TCGA-CR-6473-01A-11D-1870-08	28383410	102509067	4840473	64	31567											
EIF2AK4	440275	broad.mit.edu	37	chr15	40259747	40259747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcttcgcaggtacacagCtcagctcctgtcaggccttg	7	10	10	14	1	3	0	3	0	0	0	5	0	4	0	2	2	4	5	2	2	1	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr15:40259747C>T	ENST00000263791.5	+	9	1263	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.A407V|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.A407V	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	407	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGGTACACAGCTCAGCTCCTG	0.532													26	36					0	0	0	0	T	40259747	C	T	40259747	3	4	179	1	0	0	0	0	1	0	0	0	5035	797	28	4	1254	4	EIF2AK4	15	40259747	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08		40259747	62271645	65	31568											
C15orf59	388135	broad.mit.edu	37	chr15	74043429	74043429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaccaccactgctggggtCgtcactgggctgcccgaggt	5	8	13	15	2	2	0	2	0	0	0	3	1	2	0	3	4	2	2	3	4	0	0			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr15:74043429C>T	ENST00000569673.1	-	2	1247	c.43G>A	c.(43-45)Gac>Aac	p.D15N	C15orf59_ENST00000379822.4_Missense_Mutation_p.D15N			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	15										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTGCTGGGGTCGTCACTGGGC	0.652													34	49					0	0	0	0	T	74043429	C	T	74043429	3	4	179	1	0	0	0	0	1	0	0	0	1819	884	31	1	846	1	C15orf59	15	74043429	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	33783682	74043429	28487963	66	31569											
SOX8	30812	broad.mit.edu	37	chr16	1035131	1035131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgactacggttcctgcagCggccagtccagcgccacccc	6	5	10	20	4	0	0	0	0	0	0	2	1	2	0	7	2	4	2	7	2	1	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:1035131C>T	ENST00000293894.3	+	3	1201	c.1086C>T	c.(1084-1086)agC>agT	p.S362S		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	362					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GTTCCTGCAGCGGCCAGTCCA	0.736													4	1					0	0	0	0	T	1035131	C	T	1035131	2	4	179	1	0	0	0	0	0	0	0	1	15045	767	27	1		1	SOX8	16	1035131	Silent	SNP	C	TCGA-CR-6473-01A-11D-1870-08		1035131	89319622	67	31570											
FLYWCH1	84256	broad.mit.edu	37	chr16	2980808	2980810	+	In_Frame_Del	DEL	GGA	GGA	-																															gtgctgagcaagccggccctGgaggaggaggaggcaccccg																										TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:2980808_2980810delGGA	ENST00000399667.2	+	4	1086_1088	c.723_725delGGA	c.(721-726)ctg>ct	p.LE241del	FLYWCH1_ENST00000253928.9_In_Frame_Del_p.LE241del|FLYWCH1_ENST00000416288.2_In_Frame_Del_p.LE240del			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	241						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						AGCCGGCCCTGGAGGAGGAGGAG	0.704													3	6	---	---	---	---					-	2980810	GGA	-	2980808	7	5	179	1	0	1	0	1	0	0	0	0	5992	1335	47	0	726	0	FLYWCH1	16	2980808	In_Frame_Del	DEL	GGA	TCGA-CR-6473-01A-11D-1870-08	1945677	2980808	87373945	68	31571											
NLRC5	84166	broad.mit.edu	37	chr16	57063689	57063689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggtctcctcgcagttttCgggacaaccagctcagtgac	7	11	10	13	2	2	1	1	1	1	0	5	2	2	2	2	2	2	3	2	2	1	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:57063689C>T	ENST00000436936.1	+	9	2473	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	NLRC5_ENST00000262510.6_Missense_Mutation_p.R750W|NLRC5_ENST00000539144.1_Missense_Mutation_p.R750W|NLRC5_ENST00000308149.7_Missense_Mutation_p.R750W			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	750					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCGCAGTTTTCGGGACAACCA	0.582													8	8					0	0	0	0	T	57063689	C	T	57063689	3	4	179	1	0	0	0	0	1	0	0	0	10540	875	31	1	2274	1	NLRC5	16	57063689	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	54082881	57063689	33291064	69	31572											
GFOD2	81577	broad.mit.edu	37	chr16	67709163	67709163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggatcggctcgacctcttGatggcatccaccacgctctg	6	9	10	16	4	2	1	0	1	2	0	5	3	3	2	4	3	0	3	4	3	0	1			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:67709163G>C	ENST00000268797.7	-	3	1398	c.1053C>G	c.(1051-1053)atC>atG	p.I351M	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	351						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TCGACCTCTTGATGGCATCCA	0.657													35	15					0	0	0	0	C	67709163	G	C	67709163	3	2	179	1	0	0	0	0	1	0	0	0	6395	1280	45	2	108	2	GFOD2	16	67709163	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	10645474	67709163	22645590	70	31573											
MBTPS1	8720	broad.mit.edu	37	chr16	84132744	84132744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaagtgttagcagccccGctttctgtttttcttttatc	5	19	6	11	1	3	0	1	0	2	0	4	0	3	0	2	0	2	4	2	0	3	7			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:84132744G>A	ENST00000343411.3	-	3	830	c.335C>T	c.(334-336)gCg>gTg	p.A112V		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	112					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	p.A112V(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAGCAGCCCCGCTTTCTGTTT	0.423													9	53					0	0	0	0	A	84132744	G	A	84132744	3	1	179	1	0	0	0	0	1	0	0	0	9430	1087	38	1	2907	1	MBTPS1	16	84132744	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	16423581	84132744	6222009	71	31574											
MYH2	4620	broad.mit.edu	37	chr17	10424679	10424679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactcagcaatgtcagccCgttcctcggcctcctccagc	6	8	10	17	2	2	0	2	0	0	0	6	1	5	1	5	2	3	2	5	2	1	1			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:10424679C>T	ENST00000245503.5	-	40	6128	c.5744G>A	c.(5743-5745)cGg>cAg	p.R1915Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.R682Q|MYH2_ENST00000397183.2_Missense_Mutation_p.R1915Q|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1915					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AATGTCAGCCCGTTCCTCGGC	0.488													56	115					0	0	0	0	T	10424679	C	T	10424679	3	4	179	1	0	0	0	0	1	0	0	0	10105	652	23	1	85	1	MYH2	17	10424679	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08		10424679	70770531	72	31575											
PIPOX	51268	broad.mit.edu	37	chr17	27382170	27382170	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagacgtccagatcctgagCagctttgtcagagatcactt	10	10	11	10	1	2	4	2	1	0	3	4	6	4	4	2	1	2	2	2	1	0	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:27382170C>A	ENST00000323372.4	+	6	1223	c.897C>A	c.(895-897)agC>agA	p.S299R	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	299					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	AGATCCTGAGCAGCTTTGTCA	0.602													17	138					2.37509e-13	2.62409e-13	1	0	A	27382170	C	A	27382170	3	1	179	1	0	0	0	0	1	0	0	0	12015	709	25	4	919	4	PIPOX	17	27382170	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	16957491	27382170	53813040	73	31576											
TADA2A	6871	broad.mit.edu	37	chr17	35771469	35771469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaatggaccgtttgggtcCctttagcagtaagtacagtg	9	11	14	7	1	0	0	0	0	0	0	1	2	1	2	2	3	2	4	2	3	4	5			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:35771469C>T	ENST00000394395.2	+	2	190	c.17C>T	c.(16-18)cCc>cTc	p.P6L	TADA2A_ENST00000417170.1_Missense_Mutation_p.P6L|TADA2A_ENST00000225396.6_Missense_Mutation_p.P6L|TADA2A_ENST00000586023.1_Missense_Mutation_p.P6L	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	6			P -> S (in dbSNP:rs7211875).		histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CGTTTGGGTCCCTTTAGCAGT	0.473													44	62					0	0	0	0	T	35771469	C	T	35771469	3	4	179	1	0	0	0	0	1	0	0	0	15601	623	22	4	19	4	TADA2A	17	35771469	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	8389299	35771469	45423741	74	31577											
ABCA10	10349	broad.mit.edu	37	chr17	67153022	67153022	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttccatacttcatttccaGacaccttatgacaaaaagga	15	12	4	10	0	1	2	1	1	0	1	3	3	3	3	3	1	1	0	3	1	4	5			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:67153022G>C	ENST00000269081.4	-	29	4315	c.3406C>G	c.(3406-3408)Ctg>Gtg	p.L1136V	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1136					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCATTTCCAGACACCTTATG	0.303													16	12					0	0	0	0	C	67153022	G	C	67153022	3	2	179	1	0	0	0	0	1	0	0	0	29	933	33	2	1273	2	ABCA10	17	67153022	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	31381553	67153022	14042188	75	31578											
ABCA10	10349	broad.mit.edu	37	chr17	67171572	67171572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatcgctgatgctgctcatgCcgataaaaggagaaacgcag	14	7	11	9	3	1	2	1	1	0	1	2	4	1	2	1	1	4	4	1	1	4	1			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:67171572C>T	ENST00000269081.4	-	24	3761	c.2852G>A	c.(2851-2853)gGc>gAc	p.G951D	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	951					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GCTGCTCATGCCGATAAAAGG	0.343													4	84					0	0	0	0	T	67171572	C	T	67171572	3	4	179	1	0	0	0	0	1	0	0	0	29	739	26	4	1847	4	ABCA10	17	67171572	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	18550	67171572	14023638	76	31579											
RECQL5	9400	broad.mit.edu	37	chr17	73661241	73661241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggcatgcacacaaagaCgtccttgttacctgaaaaaa	14	9	9	9	1	0	2	0	1	0	1	1	2	1	2	2	1	2	3	2	1	5	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:73661241C>T	ENST00000420326.2	-	3	301	c.142G>A	c.(142-144)Gtc>Atc	p.V48I	RECQL5_ENST00000340830.5_Missense_Mutation_p.V48I|RECQL5_ENST00000317905.5_Missense_Mutation_p.V48I|RECQL5_ENST00000584999.1_Missense_Mutation_p.V48I|RECQL5_ENST00000423245.2_Intron	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	48	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CACACAAAGACGTCCTTGTTA	0.438								Other identified genes with known or suspected DNA repair function					45	145					0	0	0	0	T	73661241	C	T	73661241	3	4	179	1	0	0	0	0	1	0	0	0	13285	536	19	1	2992	1	RECQL5	17	73661241	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	6489669	73661241	7533969	77	31580											
MC5R	4161	broad.mit.edu	37	chr18	13826656	13826656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctctcatatatgccttcCgcagccaagagatgcggaag	11	8	9	13	2	1	1	1	0	1	1	3	3	2	2	4	1	3	1	4	1	4	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr18:13826656C>T	ENST00000324750.3	+	1	1114	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	298					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.R298C(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATATGCCTTCCGCAGCCAAGA	0.483													60	73					0	0	0	0	T	13826656	C	T	13826656	3	4	179	1	0	0	0	0	1	0	0	0	9436	652	23	1	894	1	MC5R	18	13826656	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08		13826656	64250592	78	31581											
FEM1A	55527	broad.mit.edu	37	chr19	4793183	4793183	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagcttcctctccttcgcGgaactcttctcctacgtgct	5	13	7	16	3	3	0	0	0	3	0	7	1	4	1	3	1	5	3	3	1	2	4			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:4793183G>A	ENST00000269856.3	+	1	1456	c.1317G>A	c.(1315-1317)gcG>gcA	p.A439A	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	439					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TCTCCTTCGCGGAACTCTTCT	0.622													49	82					0	0	0	0	A	4793183	G	A	4793183	2	1	179	1	0	0	0	0	0	0	0	1	5854	1103	39	1		1	FEM1A	19	4793183	Silent	SNP	G	TCGA-CR-6473-01A-11D-1870-08		4793183	54335800	79	31582											
MUC16	94025	broad.mit.edu	37	chr19	9083519	9083519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccgttgtctctgagttttCagaactctgactgaatacaa	11	13	8	9	1	3	4	1	3	2	1	4	4	3	4	1	0	3	2	1	0	4	4			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9083519C>T	ENST00000397910.4	-	1	8499	c.8296G>A	c.(8296-8298)Gaa>Aaa	p.E2766K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2766	Ser-rich.|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						TCTGAGTTTTCAGAACTCTGA	0.502													27	39					0	0	0	0	T	9083519	C	T	9083519	3	4	179	1	0	0	0	0	1	0	0	0	10043	835	29	2	35563	2	MUC16	19	9083519	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	4290336	9083519	50045464	80	31583			1	42		8	8	4072	C		1.631806e-17
MUC16	94025	broad.mit.edu	37	chr19	9084696	9084696	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagctatggaggtgttgatCagatcagaagaagaactgct	14	9	13	5	0	2	5	2	1	0	4	2	7	2	6	0	2	3	3	0	2	5	2	rs151239264	by1000genomes	TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9084696C>T	ENST00000397910.4	-	1	7322	c.7119G>A	c.(7117-7119)ctG>ctA	p.L2373L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2373	Ser-rich.|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						AGGTGTTGATCAGATCAGAAG	0.443													23	27					0	0	0	0	T	9084696	C	T	9084696	2	4	179	1	0	0	0	0	0	0	0	1	10043	813	29	2		2	MUC16	19	9084696	Silent	SNP	C	TCGA-CR-6473-01A-11D-1870-08	1177	9084696	50044287	81	31584			1	42		8	8	4072	C		1.631806e-17
MUC16	94025	broad.mit.edu	37	chr19	9085596	9085596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagaatggcctgaggaCagtgcctcagataaactagt	13	7	10	11	0	1	3	1	1	0	2	1	4	1	4	4	2	2	0	4	2	4	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9085596C>T	ENST00000397910.4	-	1	6422	c.6219G>A	c.(6217-6219)ctG>ctA	p.L2073L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2073	Ser-rich.|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						GGCCTGAGGACAGTGCCTCAG	0.473													63	101					0	0	0	0	T	9085596	C	T	9085596	2	4	179	1	0	0	0	0	0	0	0	1	10043	465	17	4		4	MUC16	19	9085596	Silent	SNP	C	TCGA-CR-6473-01A-11D-1870-08	900	9085596	50043387	82	31585			1	42		8	8	4072	C		1.631806e-17
MUC16	94025	broad.mit.edu	37	chr19	9085982	9085982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgcctgtagaaatgacttCttccactggaatggatgaaa	13	12	9	7	0	1	3	0	2	1	1	2	5	2	5	2	2	1	1	2	2	5	4			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9085982C>T	ENST00000397910.4	-	1	6036	c.5833G>A	c.(5833-5835)Gaa>Aaa	p.E1945K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1945	Ser-rich.|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						GAAATGACTTCTTCCACTGGA	0.488													30	39					0	0	0	0	T	9085982	C	T	9085982	3	4	179	1	0	0	0	0	1	0	0	0	10043	922	32	2	38026	2	MUC16	19	9085982	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	386	9085982	50043001	83	31586			1	42		8	8	4072	C		1.631806e-17
MUC16	94025	broad.mit.edu	37	chr19	9086220	9086220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctctagtgacaccagtattCaatgacctgtcagtggccaa	11	10	9	11	0	3	2	2	2	1	0	3	2	3	2	3	1	0	2	3	1	4	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9086220C>G	ENST00000397910.4	-	1	5798	c.5595G>C	c.(5593-5595)ttG>ttC	p.L1865F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1865	Ser-rich.|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						CACCAGTATTCAATGACCTGT	0.502													20	28					0	0	0	0	G	9086220	C	G	9086220	3	3	179	1	0	0	0	0	1	0	0	0	10043	825	29	2	38264	2	MUC16	19	9086220	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	238	9086220	50042763	84	31587			1	42		8	8	4072	C		1.631806e-17
MUC16	94025	broad.mit.edu	37	chr19	9086743	9086743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaatgactggctgatgcttCttcctggagcactagtaaca	10	12	9	10	0	1	2	0	2	1	0	2	3	2	3	1	2	3	4	1	2	3	5			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9086743C>T	ENST00000397910.4	-	1	5275	c.5072G>A	c.(5071-5073)aGa>aAa	p.R1691K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1691	Ser-rich.|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						GCTGATGCTTCTTCCTGGAGC	0.483													53	56					0	0	0	0	T	9086743	C	T	9086743	3	4	179	1	0	0	0	0	1	0	0	0	10043	913	32	2	38787	2	MUC16	19	9086743	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	523	9086743	50042240	85	31588			1	42		8	8	4072	C		1.631806e-17
MUC16	94025	broad.mit.edu	37	chr19	9086890	9086890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctatgcccagggtgactCcactactactgctccctgtt	6	11	10	14	0	0	1	0	1	0	0	2	1	2	1	3	2	4	3	3	2	3	4			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9086890C>A	ENST00000397910.4	-	1	5128	c.4925G>T	c.(4924-4926)gGa>gTa	p.G1642V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1642	Ser-rich.|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						CAGGGTGACTCCACTACTACT	0.512													59	99					1.00798e-23	1.14127e-23	1	0	A	9086890	C	A	9086890	3	1	179	1	0	0	0	0	1	0	0	0	10043	855	30	2	38934	2	MUC16	19	9086890	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	147	9086890	50042093	86	31589			1	42		8	8	4072	C		1.631806e-17
MUC16	94025	broad.mit.edu	37	chr19	9087590	9087590	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctggagctgactgtgtctCaaatccagatgatttttctg	8	15	9	9	0	2	3	1	2	2	1	5	4	4	4	2	1	1	1	2	1	1	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9087590C>G	ENST00000397910.4	-	1	4428	c.4225G>C	c.(4225-4227)Gag>Cag	p.E1409Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1409	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						GACTGTGTCTCAAATCCAGAT	0.473													54	78					0	0	0	0	G	9087590	C	G	9087590	3	3	179	1	0	0	0	0	1	0	0	0	10043	835	29	2	39634	2	MUC16	19	9087590	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	700	9087590	50041393	87	31590			1	42		8	8	4072	C		1.631806e-17
TYK2	7297	broad.mit.edu	37	chr19	10473005	10473005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccggccctcagcaagcagCcctgcaaggcagccccaagt	9	3	10	19	1	1	0	1	0	0	0	1	0	1	0	6	2	5	4	6	2	3	0			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:10473005C>T	ENST00000525621.1	-	11	2085	c.1604G>A	c.(1603-1605)gGc>gAc	p.G535D	TYK2_ENST00000524462.1_Missense_Mutation_p.G350D|TYK2_ENST00000264818.6_Missense_Mutation_p.G535D|TYK2_ENST00000529370.1_Missense_Mutation_p.G535D	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	535					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGCAAGCAGCCCTGCAAGGC	0.652													3	40					0	0	0	0	T	10473005	C	T	10473005	3	4	179	1	0	0	0	0	1	0	0	0	16906	739	26	4	2019	4	TYK2	19	10473005	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	1385415	10473005	48655978	88	31591											
CNN1	1264	broad.mit.edu	37	chr19	11657661	11657661	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctagctggagaacatcggCaacttcatcaaggccatcac	12	8	8	13	1	4	1	3	0	1	1	5	2	4	1	1	3	3	2	1	3	4	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:11657661C>A	ENST00000592923.1	+	5	694	c.117C>A	c.(115-117)ggC>ggA	p.G39G	CNN1_ENST00000252456.2_Silent_p.G89G|CNN1_ENST00000535659.2_Silent_p.G39G|CNN1_ENST00000544952.1_Silent_p.G69G			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	89	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						AGAACATCGGCAACTTCATCA	0.572													8	75					5.18039e-06	5.50166e-06	1	0	A	11657661	C	A	11657661	2	1	179	1	0	0	0	0	0	0	0	1	3639	697	25	4		4	CNN1	19	11657661	Silent	SNP	C	TCGA-CR-6473-01A-11D-1870-08	1184656	11657661	47471322	89	31592											
GRAMD1A	57655	broad.mit.edu	37	chr19	35512474	35512474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgctcattgagaagaactCgtggagcggcattgaagact	11	9	13	8	3	1	4	1	2	0	3	3	6	1	5	0	2	2	2	0	2	3	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:35512474C>T	ENST00000599564.1	+	15	1876	c.1805C>T	c.(1804-1806)tCg>tTg	p.S602L	GRAMD1A_ENST00000504615.2_Missense_Mutation_p.S281L|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.S508L|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.S515L			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	515						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGAAGAACTCGTGGAGCGGC	0.582													31	46					0	0	0	0	T	35512474	C	T	35512474	3	4	179	1	0	0	0	0	1	0	0	0	6797	893	31	1	1598	1	GRAMD1A	19	35512474	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	23854813	35512474	23616509	90	31593											
LIN37	55957	broad.mit.edu	37	chr19	36245020	36245020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagatcccgcatcccatctCcactgcagcctgagatgcag	9	7	9	16	1	1	2	0	1	1	2	4	3	3	2	4	0	3	4	4	0	0	0			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:36245020C>T	ENST00000301159.9	+	7	911	c.547C>T	c.(547-549)Cca>Tca	p.P183S	AC002398.9_ENST00000591613.2_3'UTR	NM_019104.2	NP_061977.1	Q96GY3	LIN37_HUMAN	lin-37 homolog (C. elegans)	183	Pro-rich.						protein binding			large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CATCCCATCTCCACTGCAGCC	0.627													24	28					0	0	0	0	T	36245020	C	T	36245020	3	4	179	1	0	0	0	0	1	0	0	0	8862	855	30	2	573	2	LIN37	19	36245020	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08	732546	36245020	22883963	91	31594											
HNRNPL	3191	broad.mit.edu	37	chr19	39330892	39330892	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcccatactgggggccGtagcgacttgggccccgacg	5	6	17	13	4	0	0	0	0	0	0	0	2	0	0	4	4	3	1	4	4	2	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:39330892G>A	ENST00000221419.5	-	8	1443	c.1077C>T	c.(1075-1077)taC>taT	p.Y359Y	HNRNPL_ENST00000600873.1_Silent_p.Y226Y	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	359	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACTGGGGGCCGTAGCGACTTG	0.652													5	6					0	0	0	0	A	39330892	G	A	39330892	2	1	179	1	0	0	0	0	0	0	0	1	7320	1140	40	1		1	HNRNPL	19	39330892	Silent	SNP	G	TCGA-CR-6473-01A-11D-1870-08	3085872	39330892	19798091	92	31595											
PSG9	5678	broad.mit.edu	37	chr19	43763286	43763286	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtaggggatgggcagcttCgctgtgtggataacagagag	10	9	17	5	1	0	1	0	0	0	1	1	4	0	3	0	4	2	4	0	4	2	3	rs4028446		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:43763286C>T	ENST00000418820.2	-	3	530	c.430_splice	c.e3-1	p.S144_splice	PSG9_ENST00000270077.3_Splice_Site_p.P237_splice|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Splice_Site_p.S144_splice|PSG9_ENST00000244293.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	144	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGGGCAGCTTCGCTGTGTGGA	0.493													74	146					0	0	0	0	T	43763286	C	T	43763286	5	4	179	1	0	0	0	0	0	0	1	0	12741	898	31	1	581	1	PSG9	19	43763286	Splice_Site	SNP	C	TCGA-CR-6473-01A-11D-1870-08	4432394	43763286	15365697	93	31596											
ZNF667	63934	broad.mit.edu	37	chr19	56969527	56969527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttctctgtcactcaccagGagcccggcgtcttcttactg	5	12	10	14	2	5	0	2	0	3	0	6	1	5	1	2	3	2	1	2	3	1	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:56969527G>T	ENST00000591790.1	-	4	1678	c.250C>A	c.(250-252)Cct>Act	p.P84T	ZNF667_ENST00000342634.3_Missense_Mutation_p.P177T|ZNF667_ENST00000292069.6_Missense_Mutation_p.P84T|ZNF667_ENST00000504904.3_Missense_Mutation_p.P84T			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CACTCACCAGGAGCCCGGCGT	0.478													6	73					3.59834e-05	3.79209e-05	1	0	T	56969527	G	T	56969527	3	4	179	1	0	0	0	0	1	0	0	0	18169	1174	41	2	1590	2	ZNF667	19	56969527	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	13206241	56969527	2159456	94	31597											
TPX2	22974	broad.mit.edu	37	chr20	30381707	30381707	+	Frame_Shift_Del	DEL	T	T	-																															gtgccacattatggggtgccTtttaagccccaaatcccaga																										TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr20:30381707delT	ENST00000340513.4	+	15	2202	c.1674delT	c.(1672-1674)ccfs	p.P558fs	TPX2_ENST00000300403.6_Frame_Shift_Del_p.P522fs			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	522					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATGGGGTGCCTTTTAAGCCCC	0.428													7	890	---	---	---	---					-	30381707	T	-	30381707	7	5	179	1	0	1	0	1	0	0	0	0	16527	1596	56	0	1612	0	TPX2	20	30381707	Frame_Shift_Del	DEL	T	TCGA-CR-6473-01A-11D-1870-08		30381707	32643813	95	31598											
DNMT3B	1789	broad.mit.edu	37	chr20	31379433	31379433	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagacaaactggtggcactGgggctgttcagccagcactt	9	8	13	11	0	1	1	1	0	0	1	1	1	1	1	1	4	3	5	1	4	1	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr20:31379433G>A	ENST00000328111.2	+	8	1161	c.840G>A	c.(838-840)ctG>ctA	p.L280L	DNMT3B_ENST00000344505.4_Silent_p.L280L|DNMT3B_ENST00000348286.2_Silent_p.L280L|DNMT3B_ENST00000456297.2_Silent_p.L204L|DNMT3B_ENST00000201963.3_Silent_p.L292L|DNMT3B_ENST00000443239.3_Silent_p.L238L|DNMT3B_ENST00000375623.4_Silent_p.L238L|DNMT3B_ENST00000353855.2_Silent_p.L280L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	280	Interaction with DNMT1 and DNMT3A.|PWWP.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGTGGCACTGGGGCTGTTCA	0.483													18	154					0	0	0	0	A	31379433	G	A	31379433	2	1	179	1	0	0	0	0	0	0	0	1	4713	1335	47	4		4	DNMT3B	20	31379433	Silent	SNP	G	TCGA-CR-6473-01A-11D-1870-08	997726	31379433	31646087	96	31599											
HIRA	7290	broad.mit.edu	37	chr22	19346902	19346902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccggctggtgagtaccgtctCccactccttcccttcccggt	3	11	9	18	3	1	1	0	1	1	0	5	1	4	1	6	3	1	2	6	3	1	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:19346902C>T	ENST00000263208.5	-	18	2447	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Missense_Mutation_p.E687K|HIRA_ENST00000546308.1_Missense_Mutation_p.E687K	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	731	Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGTACCGTCTCCCACTCCTTC	0.602													38	35					0	0	0	0	T	19346902	C	T	19346902	3	4	179	1	0	0	0	0	1	0	0	0	7170	864	30	2	894	2	HIRA	22	19346902	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08		19346902	31957664	97	31600											
TRMT2A	27037	broad.mit.edu	37	chr22	20103246	20103246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcagcaggccttgttgtgCttgtgcctctgctcgagcag	4	11	15	11	1	1	0	0	0	1	0	2	1	1	0	2	2	5	6	2	2	0	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:20103246C>T	ENST00000252136.7	-	3	1045	c.657G>A	c.(655-657)aaG>aaA	p.K219K	TRMT2A_ENST00000404751.3_Silent_p.K219K|TRMT2A_ENST00000403707.3_Silent_p.K219K|TRMT2A_ENST00000439169.2_Silent_p.K219K	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	219					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						CCTTGTTGTGCTTGTGCCTCT	0.602													10	19					0	0	0	0	T	20103246	C	T	20103246	2	4	179	1	0	0	0	0	0	0	0	1	16660	796	28	4		4	TRMT2A	22	20103246	Silent	SNP	C	TCGA-CR-6473-01A-11D-1870-08	756344	20103246	31201320	98	31601											
ASPHD2	57168	broad.mit.edu	37	chr22	26829615	26829615	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttgggacccccgaggactGattgtctgaccttgcttcac	6	11	10	14	1	2	2	1	2	1	0	2	5	2	4	4	2	1	1	4	2	0	4			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:26829615G>C	ENST00000215906.5	+	2	472	c.34G>C	c.(34-36)Gat>Cat	p.D12H		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	12					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CCCGAGGACTGATTGTCTGAC	0.652													11	20					0	0	0	0	C	26829615	G	C	26829615	3	2	179	1	0	0	0	0	1	0	0	0	1059	1290	45	2	36	2	ASPHD2	22	26829615	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	6726369	26829615	24474951	99	31602											
ARFGAP3	26286	broad.mit.edu	37	chr22	43206867	43206867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtttcagtatctttgctgGtctcttttttccaataggaa	7	19	7	8	0	3	0	1	0	2	0	5	1	4	1	1	2	1	3	1	2	4	7			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:43206867G>T	ENST00000263245.5	-	12	1367	c.1148C>A	c.(1147-1149)aCc>aAc	p.T383N	ARFGAP3_ENST00000437119.2_Missense_Mutation_p.T339N|ARFGAP3_ENST00000429508.2_Missense_Mutation_p.T311N	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	383					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						ATCTTTGCTGGTCTCTTTTTT	0.428													50	67					2.29192e-23	2.57371e-23	1	0	T	43206867	G	T	43206867	3	4	179	1	0	0	0	0	1	0	0	0	853	1261	44	4	422	4	ARFGAP3	22	43206867	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	16377252	43206867	8097699	100	31603											
TBC1D22A	25771	broad.mit.edu	37	chr22	47393590	47393590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatgttagaagaactcGtgagccggattgatggtaag	14	10	13	4	2	0	5	0	3	0	2	1	6	0	6	1	2	2	2	1	2	6	3			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:47393590G>A	ENST00000337137.4	+	10	1352	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.V349M|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.V318M|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.V337M	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	396	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGAAGAACTCGTGAGCCGGAT	0.507													43	52					0	0	0	0	A	47393590	G	A	47393590	3	1	179	1	0	0	0	0	1	0	0	0	15702	1145	40	1	1224	1	TBC1D22A	22	47393590	Missense_Mutation	SNP	G	TCGA-CR-6473-01A-11D-1870-08	4186723	47393590	3910976	101	31604											
TMEM164	84187	broad.mit.edu	37	chrX	109310602	109310602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctggcctgccctccatgtCggggagctatcgtcgtcttc	3	12	11	15	3	1	0	0	0	1	0	7	1	3	1	4	3	2	1	4	3	1	2			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chrX:109310602C>T	ENST00000372073.1	+	3	754	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	TMEM164_ENST00000372068.2_Missense_Mutation_p.R140W|TMEM164_ENST00000372072.3_5'UTR|TMEM164_ENST00000288381.4_Intron			Q5U3C3	TM164_HUMAN	transmembrane protein 164	140						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CCCTCCATGTCGGGGAGCTAT	0.403													41	63					0	0	0	0	T	109310602	C	T	109310602	3	4	179	1	0	0	0	0	1	0	0	0	16173	875	31	1	424	1	TMEM164	23	109310602	Missense_Mutation	SNP	C	TCGA-CR-6473-01A-11D-1870-08		109310602	45959958	102	31605											
GRIA3	2892	broad.mit.edu	37	chrX	122532519	122532519	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgacacacgacgcaatactGgtcatagcagaagctttccg	12	9	9	11	3	1	2	1	1	0	1	2	3	2	2	1	1	3	3	1	1	4	4			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chrX:122532519G>A	ENST00000264357.5	+	7	1237	c.945G>A	c.(943-945)ctG>ctA	p.L315L	GRIA3_ENST00000371256.5_Silent_p.L315L|GRIA3_ENST00000542149.1_Silent_p.L315L|GRIA3_ENST00000541091.1_Silent_p.L299L|GRIA3_ENST00000371251.1_Silent_p.L315L	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	315					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ACGCAATACTGGTCATAGCAG	0.453													25	24					0	0	0	0	A	122532519	G	A	122532519	2	1	179	1	0	0	0	0	0	0	0	1	6819	1335	47	4		4	GRIA3	23	122532519	Silent	SNP	G	TCGA-CR-6473-01A-11D-1870-08	13221917	122532519	32738041	103	31606											
CAMTA1	23261	broad.mit.edu	37	chr1	7724942	7724942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttctccgacctgatcaacGacttcatctccgtggagggg	8	10	11	12	3	4	1	2	1	2	0	6	4	4	2	3	3	1	1	3	3	1	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:7724942G>A	ENST00000303635.7	+	9	2542	c.2335G>A	c.(2335-2337)Gac>Aac	p.D779N	CAMTA1_ENST00000439411.2_Missense_Mutation_p.D779N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.D779N(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCTGATCAACGACTTCATCTC	0.647			T	WWTR1	epitheliod hemangioendothelioma								27	313					0	0	0	0	A	7724942	G	A	7724942	3	1	180	1	0	0	0	0	1	0	0	0	2638	1058	37	1	2369	1	CAMTA1	1	7724942	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08		7724942	241525679	1	31607											
MASP2	10747	broad.mit.edu	37	chr1	11090260	11090260	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagactgggagtgatttttCtcctttggagctcgtccaga	8	13	11	9	1	1	3	0	1	1	2	4	5	2	5	2	2	1	1	2	2	0	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:11090260C>A	ENST00000400897.3	-	10	1285	c.1270G>T	c.(1270-1272)Gaa>Taa	p.E424*	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	424	Sushi 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGTGATTTTTCTCCTTTGGAG	0.423													15	46					1.5739e-10	1.77063e-10	1	0	A	11090260	C	A	11090260	4	1	180	1	0	0	0	0	0	1	0	0	9392	922	32	2	798	2	MASP2	1	11090260	Nonsense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	3365318	11090260	238160361	2	31608											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17953907	17953907	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctggagacgctggctgAgaagctgaacgagcagaagc	13	4	16	8	2	0	5	0	2	0	4	0	8	0	5	0	2	5	5	0	2	3	0			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:17953907A>G	ENST00000361221.3	+	15	1652	c.1493A>G	c.(1492-1494)gAg>gGg	p.E498G	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.E206G|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.E276G|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.E256G|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E459G|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E459G|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E498G	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	498	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACGCTGGCTGAGAAGCTGAAC	0.627													11	42					0	0	0	0	G	17953907	A	G	17953907	3	3	180	1	0	0	0	0	1	0	0	0	897	304	11	5	1547	5	ARHGEF10L	1	17953907	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	6863647	17953907	231296714	3	31609											
C1orf173	127254	broad.mit.edu	37	chr1	75039018	75039018	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccacagtgctgcctccccTtttccctgtactatgtcagc	5	12	6	18	0	1	0	1	0	0	0	3	0	3	0	6	0	4	2	6	0	2	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:75039018T>C	ENST00000326665.5	-	14	2594	c.2376A>G	c.(2374-2376)aaA>aaG	p.K792K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	792	Glu-rich.									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						CTGCCTCCCCTTTTCCCTGTA	0.522													3	149					0	0	0	0	C	75039018	T	C	75039018	2	2	180	1	0	0	0	0	0	0	0	1	2033	1606	56	5		5	C1orf173	1	75039018	Silent	SNP	T	TCGA-CR-6474-01A-11D-1870-08	57085111	75039018	174211603	4	31610											
USP33	23032	broad.mit.edu	37	chr1	78183606	78183606	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatcatatgtcacaatttGagctggactatccttagcaa	14	12	7	8	0	2	2	2	1	0	1	3	3	3	3	1	1	2	2	1	1	6	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:78183606G>C	ENST00000370793.1	-	18	2303	c.1957C>G	c.(1957-1959)Caa>Gaa	p.Q653E	USP33_ENST00000357428.1_Missense_Mutation_p.Q653E|USP33_ENST00000370792.3_Missense_Mutation_p.Q645E|USP33_ENST00000370794.3_Missense_Mutation_p.Q622E	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	653					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GTCACAATTTGAGCTGGACTA	0.363													5	80					0	0	0	0	C	78183606	G	C	78183606	3	2	180	1	0	0	0	0	1	0	0	0	17160	1299	45	2	915	2	USP33	1	78183606	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	3144588	78183606	171067015	5	31611											
NEXN	91624	broad.mit.edu	37	chr1	78383306	78383306	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgtaccaaaacttggcaAgggtgatgtaaaggataagt	15	10	11	5	0	0	1	0	1	0	0	0	2	0	2	1	3	2	3	1	3	8	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:78383306A>T	ENST00000334785.7	+	3	267	c.83A>T	c.(82-84)aAg>aTg	p.K28M	NEXN_ENST00000330010.8_Intron|NEXN_ENST00000294624.8_Missense_Mutation_p.K28M|NEXN_ENST00000457030.1_Missense_Mutation_p.K28M	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	28					regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAACTTGGCAAGGGTGATGTA	0.338													6	61					0	0	0	0	T	78383306	A	T	78383306	3	4	180	1	0	0	0	0	1	0	0	0	10425	72	3	5	89	5	NEXN	1	78383306	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	199700	78383306	170867315	6	31612											
HS2ST1	9653	broad.mit.edu	37	chr1	87558299	87558299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttattattactttctgagaTttggagatgattatagacca	12	17	7	5	0	1	4	0	2	1	3	1	6	1	4	1	1	1	0	1	1	5	7			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:87558299T>C	ENST00000370550.5	+	4	898	c.535T>C	c.(535-537)Ttt>Ctt	p.F179L	HS2ST1_ENST00000356813.4_Missense_Mutation_p.F153L|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.F153L|HS2ST1_ENST00000370551.4_Missense_Mutation_p.F179L	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	179						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CTTTCTGAGATTTGGAGATGA	0.299													7	69					0	0	0	0	C	87558299	T	C	87558299	3	2	180	1	0	0	0	0	1	0	0	0	7412	1493	52	5	549	5	HS2ST1	1	87558299	Missense_Mutation	SNP	T	TCGA-CR-6474-01A-11D-1870-08	9174993	87558299	161692322	7	31613											
PKN2	5586	broad.mit.edu	37	chr1	89271671	89271671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaaatagatgaatcttctGaattaagagttttggatata	16	14	9	2	0	2	5	0	2	2	3	2	7	2	6	0	1	0	1	0	1	7	7			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:89271671G>C	ENST00000370521.3	+	12	2133	c.1774G>C	c.(1774-1776)Gaa>Caa	p.E592Q	PKN2_ENST00000316005.7_3'UTR|PKN2_ENST00000544045.1_Missense_Mutation_p.E266Q|PKN2_ENST00000370505.3_Missense_Mutation_p.E435Q|PKN2_ENST00000370513.5_Missense_Mutation_p.E544Q	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	592					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGAATCTTCTGAATTAAGAGT	0.388													8	50					0	0	0	0	C	89271671	G	C	89271671	3	2	180	1	0	0	0	0	1	0	0	0	12052	1291	45	2	1820	2	PKN2	1	89271671	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	1713372	89271671	159978950	8	31614											
DPYD	1806	broad.mit.edu	37	chr1	97981411	97981411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttataaacttcaatccggcCatttctacactaatgtccac	12	14	3	12	1	2	0	1	0	1	0	4	0	4	0	3	1	2	0	3	1	6	7			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:97981411C>A	ENST00000370192.3	-	13	1711	c.1611G>T	c.(1609-1611)atG>atT	p.M537I		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	537					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCAATCCGGCCATTTCTACAC	0.438													5	51					1.024e-07	1.12849e-07	1	0	A	97981411	C	A	97981411	3	1	180	1	0	0	0	0	1	0	0	0	4781	594	21	4	1510	4	DPYD	1	97981411	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	8709740	97981411	151269210	9	31615											
TRIM33	51592	broad.mit.edu	37	chr1	114948369	114948369	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtggtgtcaagctactctCaggactgctcaactaaaaca	13	9	9	10	0	3	0	3	0	1	0	4	1	3	1	0	3	5	2	0	3	5	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:114948369C>G	ENST00000358465.2	-	15	2514	c.2431G>C	c.(2431-2433)Gag>Cag	p.E811Q	TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_Missense_Mutation_p.E811Q|TRIM33_ENST00000450349.2_Missense_Mutation_p.E443Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	811			E -> K (in a lung adenocarcinoma sample; somatic mutation).		negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	p.E811K(2)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		AAGCTACTCTCAGGACTGCTC	0.373			T	RET	papillary thyroid								3	92					0	0	0	0	G	114948369	C	G	114948369	3	3	180	1	0	0	0	0	1	0	0	0	16602	835	29	2	976	2	TRIM33	1	114948369	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	16966958	114948369	134302252	10	31616											
WDR3	10885	broad.mit.edu	37	chr1	118495242	118495242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatctctgagactttgggAgagaacaagggagcctctta	13	9	11	8	0	2	2	0	1	2	2	3	6	2	4	1	2	2	0	1	2	4	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:118495242A>G	ENST00000349139.4	+	19	2155	c.2108A>G	c.(2107-2109)gAg>gGg	p.E703G		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	703						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AGACTTTGGGAGAGAACAAGG	0.463													3	122					0	0	0	0	G	118495242	A	G	118495242	3	3	180	1	0	0	0	0	1	0	0	0	17381	304	11	5	2178	5	WDR3	1	118495242	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	3546873	118495242	130755379	11	31617											
HIST2H3D	653604	broad.mit.edu	37	chr1	149784913	149784913	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcatggatggcgcacaggttCgtgtcttcgaacagccccac	8	8	12	13	3	1	0	0	0	1	0	3	2	1	1	2	3	2	3	2	3	1	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:149784913C>G	ENST00000331491.1	-	1	323	c.324G>C	c.(322-324)acG>acC	p.T108T		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	108					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CGCACAGGTTCGTGTCTTCGA	0.627													9	39					0	0	0	0	G	149784913	C	G	149784913	2	3	180	1	0	0	0	0	0	0	0	1	7231	871	31	3		3	HIST2H3D	1	149784913	Silent	SNP	C	TCGA-CR-6474-01A-11D-1870-08	31289671	149784913	99465708	12	31618											
FCRL5	83416	broad.mit.edu	37	chr1	157497570	157497570	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgacatcctcatgataaaaCcagtacaggattgggggaga	14	8	12	7	0	1	3	1	2	0	1	2	5	2	4	2	3	2	1	2	3	3	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:157497570C>T	ENST00000361835.3	-	9	1954	c.1797G>A	c.(1795-1797)tgG>tgA	p.W599*	FCRL5_ENST00000356953.4_Nonsense_Mutation_p.W599*|FCRL5_ENST00000368190.3_Nonsense_Mutation_p.W599*|FCRL5_ENST00000368191.3_Nonsense_Mutation_p.W514*	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	599	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CATGATAAAACCAGTACAGGA	0.582													21	85					0	0	0	0	T	157497570	C	T	157497570	4	4	180	1	0	0	0	0	0	1	0	0	5843	508	18	4	1172	4	FCRL5	1	157497570	Nonsense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	7712657	157497570	91753051	13	31619											
CD1D	912	broad.mit.edu	37	chr1	158151354	158151354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggagctgcagacgcacagCtggagcaacgactcggacac	11	3	15	12	3	0	1	0	0	0	1	1	5	0	4	0	4	5	5	0	4	1	0			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:158151354C>T	ENST00000368171.3	+	3	670	c.171C>T	c.(169-171)agC>agT	p.S57S		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	57					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGACGCACAGCTGGAGCAACG	0.632													50	145					0	0	0	0	T	158151354	C	T	158151354	2	4	180	1	0	0	0	0	0	0	0	1	3006	796	28	4		4	CD1D	1	158151354	Silent	SNP	C	TCGA-CR-6474-01A-11D-1870-08	653784	158151354	91099267	14	31620											
KIFAP3	22920	broad.mit.edu	37	chr1	170001123	170001123	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggttttcagggtcttcatCaagtaaacaacttgttaagg	11	15	9	6	0	4	0	3	0	1	0	4	0	4	0	0	3	2	3	0	3	5	7			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:170001123C>G	ENST00000367765.1	-	8	2126	c.625G>C	c.(625-627)Gat>Cat	p.D209H	KIFAP3_ENST00000538366.1_Missense_Mutation_p.D171H|KIFAP3_ENST00000361580.2_Missense_Mutation_p.D249H|KIFAP3_ENST00000367767.1_Missense_Mutation_p.D205H	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	249					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGGTCTTCATCAAGTAAACAA	0.333													10	82					0	0	0	0	G	170001123	C	G	170001123	3	3	180	1	0	0	0	0	1	0	0	0	8362	826	29	2	1685	2	KIFAP3	1	170001123	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	11849769	170001123	79249498	15	31621											
SLC1A4	6509	broad.mit.edu	37	chr2	65245229	65245229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgacccttccctctatgatGaagtgcattgaagagaacaa	13	9	9	10	1	1	4	0	3	1	1	2	6	2	4	2	0	2	1	2	0	5	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:65245229G>A	ENST00000234256.3	+	6	1302	c.1059G>A	c.(1057-1059)atG>atA	p.M353I	SLC1A4_ENST00000531327.1_Missense_Mutation_p.M55I	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	353					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CCTCTATGATGAAGTGCATTG	0.517													36	88					0	0	0	0	A	65245229	G	A	65245229	3	1	180	1	0	0	0	0	1	0	0	0	14522	1290	45	2	1081	2	SLC1A4	2	65245229	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08		65245229	177954144	16	31622											
AFF3	3899	broad.mit.edu	37	chr2	100210748	100210748	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttagaggatgccggttCagcctgaaagcagaaaaccg	12	8	12	9	2	1	3	1	1	0	2	1	4	1	4	3	2	4	3	3	2	4	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:100210748C>A	ENST00000317233.4	-	14	1610	c.1375G>T	c.(1375-1377)Gaa>Taa	p.E459*	AFF3_ENST00000409579.1_Nonsense_Mutation_p.E484*|AFF3_ENST00000409236.1_Nonsense_Mutation_p.E459*|AFF3_ENST00000356421.2_Nonsense_Mutation_p.E484*	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	459					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GATGCCGGTTCAGCCTGAAAG	0.433													33	186					8.53417e-09	9.46943e-09	1	0	A	100210748	C	A	100210748	4	1	180	1	0	0	0	0	0	1	0	0	358	835	29	2	2349	2	AFF3	2	100210748	Nonsense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	34965519	100210748	142988625	17	31623											
ACMSD	130013	broad.mit.edu	37	chr2	135621074	135621074	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggacgttgcccatgcAggcccctgagctggcggtca	5	8	15	13	2	2	1	1	1	1	0	2	2	2	2	3	5	3	3	3	5	0	1			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:135621074A>G	ENST00000356140.5	+	5	495	c.359A>G	c.(358-360)cAg>cGg	p.Q120R	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Missense_Mutation_p.Q62R|ACMSD_ENST00000392928.1_Missense_Mutation_p.Q62R	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	120					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTGCCCATGCAGGCCCCTGAG	0.587													3	73					0	0	0	0	G	135621074	A	G	135621074	3	3	180	1	0	0	0	0	1	0	0	0	144	188	7	5	377	5	ACMSD	2	135621074	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	35410326	135621074	107578299	18	31624											
SCN1A	6323	broad.mit.edu	37	chr2	166897962	166897962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagggtgggcatttctGcctggattcttcaagttcta	8	13	10	10	0	4	0	1	0	3	0	4	1	4	1	2	3	2	2	2	3	3	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:166897962G>T	ENST00000423058.2	-	13	2211	c.2194C>A	c.(2194-2196)Cag>Aag	p.Q732K	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.Q704K|SCN1A_ENST00000375405.3_Missense_Mutation_p.Q721K|SCN1A_ENST00000303395.4_Missense_Mutation_p.Q732K|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	732						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGGCATTTCTGCCTGGATTCT	0.323													32	56					1.36615e-20	1.5922e-20	1	0	T	166897962	G	T	166897962	3	4	180	1	0	0	0	0	1	0	0	0	14001	1328	46	4	3891	4	SCN1A	2	166897962	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	31276888	166897962	76301411	19	31625											
TTN	7273	broad.mit.edu	37	chr2	179582358	179582358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaaaatctgaagagttgCtacattatgaacaaaagatg	17	12	8	4	0	1	4	0	2	1	2	1	4	1	4	0	0	3	3	0	0	8	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:179582358C>T	ENST00000589042.1	-	87	25467	c.25243G>A	c.(25243-25245)Gca>Aca	p.A8415T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A7171T|TTN_ENST00000591111.1_Missense_Mutation_p.A8098T|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8098							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)			TGAAGAGTTGCTACATTATGA	0.428													4	21					0	0	0	0	T	179582358	C	T	179582358	3	4	180	1	0	0	0	0	1	0	0	0	16831	797	28	4	79390	4	TTN	2	179582358	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	12684396	179582358	63617015	20	31626											
PLCL1	5334	broad.mit.edu	37	chr2	198953700	198953701	+	Frame_Shift_Del	DEL	TT	TT	-																															caatactccttcagtctcacTtgtgatgaaagacagctttc																										TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:198953700_198953701delTT	ENST00000428675.1	+	3	3232_3233	c.2834_2835delTT	c.(2833-2835)cfs	p.L945fs	PLCL1_ENST00000437704.2_Frame_Shift_Del_p.L847fs	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	945					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCAGTCTCACTTGTGATGAAAG	0.47													42	261	---	---	---	---					-	198953701	TT	-	198953700	7	5	180	1	0	1	0	1	0	0	0	0	12111	1609	56	0	2844	0	PLCL1	2	198953700	Frame_Shift_Del	DEL	TT	TCGA-CR-6474-01A-11D-1870-08	19371342	198953700	44245673	21	31627											
SPAG16	79582	broad.mit.edu	37	chr2	215274872	215274872	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtctccctcaggtcgagttTtagctcaggcaagtggcaat	8	12	11	10	1	3	0	2	0	1	0	5	1	3	0	1	3	1	4	1	3	3	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:215274872T>C	ENST00000331683.5	+	16	1824	c.1729T>C	c.(1729-1731)Tta>Cta	p.L577L	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|SPAG16_ENST00000374309.3_Silent_p.L483L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	577					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGGTCGAGTTTTAGCTCAGGC	0.408													21	47					0	0	0	0	C	215274872	T	C	215274872	2	2	180	1	0	0	0	0	0	0	0	1	15068	1838	64	5		5	SPAG16	2	215274872	Silent	SNP	T	TCGA-CR-6474-01A-11D-1870-08	16321172	215274872	27924501	22	31628											
DOCK10	55619	broad.mit.edu	37	chr2	225652094	225652094	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaactccacacacatgtaTagctgctccaccaggatatt	14	9	6	12	0	0	1	0	0	0	1	2	2	2	2	3	1	3	3	3	1	4	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:225652094T>C	ENST00000409592.3	-	49	5534	c.5421A>G	c.(5419-5421)ctA>ctG	p.L1807L	DOCK10_ENST00000258390.7_Silent_p.L1813L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1813	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CACACATGTATAGCTGCTCCA	0.428													65	174					0	0	0	0	C	225652094	T	C	225652094	2	2	180	1	0	0	0	0	0	0	0	1	4721	1393	49	5		5	DOCK10	2	225652094	Silent	SNP	T	TCGA-CR-6474-01A-11D-1870-08	10377222	225652094	17547279	23	31629											
TRIP12	9320	broad.mit.edu	37	chr2	230663654	230663654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactacctcccgcagtccgtGctggctcaatgttgttgctg	5	12	10	14	2	1	0	1	0	0	0	3	0	3	0	3	1	3	6	3	1	2	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:230663654G>A	ENST00000283943.5	-	22	3372	c.3194C>T	c.(3193-3195)gCa>gTa	p.A1065V	TRIP12_ENST00000389045.3_Missense_Mutation_p.A795V|TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389044.4_Missense_Mutation_p.A1113V	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1065					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CGCAGTCCGTGCTGGCTCAAT	0.478													19	52					0	0	0	0	A	230663654	G	A	230663654	3	1	180	1	0	0	0	0	1	0	0	0	16651	1319	46	4	2864	4	TRIP12	2	230663654	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	5011560	230663654	12535719	24	31630											
HACL1	26061	broad.mit.edu	37	chr3	15609397	15609397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaacccaaatgcactgtCtccttccacacagatgatcc	14	8	5	14	0	1	3	0	1	1	2	4	3	3	3	4	0	2	1	4	0	3	1			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:15609397C>T	ENST00000321169.5	-	14	1730	c.1363G>A	c.(1363-1365)Gac>Aac	p.D455N	HACL1_ENST00000457447.2_Missense_Mutation_p.D395N|HACL1_ENST00000451445.2_Missense_Mutation_p.D373N|HACL1_ENST00000456194.2_Missense_Mutation_p.D428N|HACL1_ENST00000435217.2_Missense_Mutation_p.D214N	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	455	Thiamine pyrophosphate binding.				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						AATGCACTGTCTCCTTCCACA	0.443													19	210					0	0	0	0	T	15609397	C	T	15609397	3	4	180	1	0	0	0	0	1	0	0	0	6991	913	32	2	389	2	HACL1	3	15609397	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08		15609397	182413033	25	31631											
CELSR3	1951	broad.mit.edu	37	chr3	48691215	48691215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacggaaatggtggggatggGccatagctgagtggataaga	12	7	17	5	1	0	2	0	1	0	1	0	5	0	5	1	6	1	1	1	6	3	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:48691215G>A	ENST00000544264.1	-	9	5565	c.5285C>T	c.(5284-5286)gCc>gTc	p.A1762V	CELSR3_ENST00000164024.4_Missense_Mutation_p.A1762V			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1762					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGGGGATGGGCCATAGCTGA	0.577													4	71					0	0	0	0	A	48691215	G	A	48691215	3	1	180	1	0	0	0	0	1	0	0	0	3252	1203	42	4	4761	4	CELSR3	3	48691215	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	33081818	48691215	149331215	26	31632											
NCKIPSD	51517	broad.mit.edu	37	chr3	48719836	48719836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgggtaggctgtgctgcCgctcgaacccagctcgacac	8	7	12	14	3	0	0	0	0	0	0	2	2	0	0	2	2	5	5	2	2	3	1			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:48719836C>T	ENST00000294129.2	-	3	550	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.R144Q|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.R144Q	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	144					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTGTGCTGCCGCTCGAACCC	0.597													14	133					0	0	0	0	T	48719836	C	T	48719836	3	4	180	1	0	0	0	0	1	0	0	0	10295	652	23	1	1781	1	NCKIPSD	3	48719836	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	28621	48719836	149302594	27	31633											
PRKCD	5580	broad.mit.edu	37	chr3	53222779	53222780	+	Frame_Shift_Ins	INS	-	-	T																															gctggaccgggatggccacaINStcaagattgccgactttggg																										TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:53222779_53222780insT	ENST00000394729.2	+	15	1787_1788	c.1459_1460insT	c.(1459-1461)caafs	p.Q487fs	PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.Q487fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	487	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GGATGGCCACATCAAGATTGCC	0.564													25	97	---	---	---	---					T	53222780	-	T	53222779	7	5	180	1	0	1	1	0	0	0	0	0	12589	217	8	0	1513	0	PRKCD	3	53222779	Frame_Shift_Ins	INS	-	TCGA-CR-6474-01A-11D-1870-08	4502943	53222779	144799651	28	31634											
CACNA2D3	55799	broad.mit.edu	37	chr3	54913049	54913049	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttttatcattttagttgaGaaatgctatggtgaatcgaa	12	17	8	4	1	2	2	1	2	1	1	3	4	2	2	0	1	1	2	0	1	6	6			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:54913049G>C	ENST00000474759.1	+	19	1763	c.1715G>C	c.(1714-1716)aGa>aCa	p.R572T	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R572T|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R572T|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R478T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	572						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTTTAGTTGAGAAATGCTATG	0.408													3	26					0	0	0	0	C	54913049	G	C	54913049	3	2	180	1	0	0	0	0	1	0	0	0	2575	942	33	2	1789	2	CACNA2D3	3	54913049	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	1690270	54913049	143109381	29	31635											
CADM2	253559	broad.mit.edu	37	chr3	85961658	85961658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacgaatccctcaatgccaCccctcaggtagccatgcagg	10	7	8	16	1	3	0	3	0	0	0	4	1	4	0	5	2	3	2	5	2	3	1			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:85961658C>G	ENST00000383699.3	+	6	1292	c.665C>G	c.(664-666)aCc>aGc	p.T222S	CADM2_ENST00000407528.2_Missense_Mutation_p.T213S|CADM2_ENST00000405615.2_Missense_Mutation_p.T215S	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	213					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTCAATGCCACCCCTCAGGTA	0.488													13	30					0	0	0	0	G	85961658	C	G	85961658	3	3	180	1	0	0	0	0	1	0	0	0	2592	507	18	4	727	4	CADM2	3	85961658	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	31048609	85961658	112060772	30	31636											
KALRN	8997	broad.mit.edu	37	chr3	124415027	124415027	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtaatctgatgccccaaGacagtgggatttatacctgc	10	12	9	10	0	2	2	0	1	2	1	2	3	2	3	3	1	3	1	3	1	4	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:124415027G>C	ENST00000360013.3	+	54	7751	c.7624G>C	c.(7624-7626)Gac>Cac	p.D2542H	KALRN_ENST00000428018.2_Missense_Mutation_p.D813H|KALRN_ENST00000291478.4_Missense_Mutation_p.D845H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2541	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GATGCCCCAAGACAGTGGGAT	0.463													23	154					0	0	0	0	C	124415027	G	C	124415027	3	2	180	1	0	0	0	0	1	0	0	0	8028	942	33	2	7994	2	KALRN	3	124415027	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	38453369	124415027	73607403	31	31637											
GK5	256356	broad.mit.edu	37	chr3	141884493	141884493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttataccaattcatggagcGtttcactgctttggcccagt	8	14	9	10	1	2	0	2	0	0	0	2	1	2	1	2	2	3	3	2	2	3	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:141884493G>A	ENST00000392993.2	-	16	1712	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	521					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TTCATGGAGCGTTTCACTGCT	0.393													19	146					0	0	0	0	A	141884493	G	A	141884493	3	1	180	1	0	0	0	0	1	0	0	0	6473	1145	40	1	32	1	GK5	3	141884493	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	17469466	141884493	56137937	32	31638											
KCNAB1	7881	broad.mit.edu	37	chr3	155838565	155838565	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctcaggggaaagccagctCagggcgcgtcaactggctct	8	6	13	14	2	4	0	3	0	1	0	4	1	4	1	2	4	3	2	2	4	2	0			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:155838565C>G	ENST00000490337.1	+	1	229	c.165C>G	c.(163-165)ctC>ctG	p.L55L	KCNAB1_ENST00000389636.5_Silent_p.L55L	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	55						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAGCCAGCTCAGGGCGCGTC	0.557													10	61					0	0	0	0	G	155838565	C	G	155838565	2	3	180	1	0	0	0	0	0	0	0	1	8062	813	29	2		2	KCNAB1	3	155838565	Silent	SNP	C	TCGA-CR-6474-01A-11D-1870-08	13954072	155838565	42183865	33	31639											
SPATA16	83893	broad.mit.edu	37	chr3	172643242	172643242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttggggaggaaaagatgaCcagtcaactgtctgaggcaa	13	8	14	6	0	2	3	1	2	1	1	2	5	2	5	1	4	1	2	1	4	4	1			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:172643242C>A	ENST00000351008.3	-	7	1305	c.1122G>T	c.(1120-1122)tgG>tgT	p.W374C		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	374					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GAAAAGATGACCAGTCAACTG	0.368													16	68					5.35267e-07	5.78088e-07	1	0	A	172643242	C	A	172643242	3	1	180	1	0	0	0	0	1	0	0	0	15091	508	18	4	607	4	SPATA16	3	172643242	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	16804677	172643242	25379188	34	31640											
ZNF721	170960	broad.mit.edu	37	chr4	436363	436363	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccccagtgtaaattttcttCtgttgattcaggtccgtgta	7	17	8	9	1	3	1	1	1	2	0	5	1	5	1	3	1	0	3	3	1	3	7			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:436363C>T	ENST00000338977.5	-	2	1905	c.1857G>A	c.(1855-1857)caG>caA	p.Q619Q	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.Q631Q					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AAATTTTCTTCTGTTGATTCA	0.403													29	285					0	0	0	0	T	436363	C	T	436363	2	4	180	1	0	0	0	0	0	0	0	1	18217	912	32	2		2	ZNF721	4	436363	Silent	SNP	C	TCGA-CR-6474-01A-11D-1870-08		436363	190717913	35	31641											
TADA2B	93624	broad.mit.edu	37	chr4	7056454	7056454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagagtacgaggcagcgcgGcataaacgggagaagaggaa	15	2	17	7	4	0	3	0	0	0	3	0	6	0	4	0	4	3	4	0	4	5	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:7056454G>A	ENST00000310074.7	+	2	1125	c.936G>A	c.(934-936)cgG>cgA	p.R312R	TADA2B_ENST00000512388.1_Silent_p.R237R|TADA2B_ENST00000515646.1_Silent_p.R220R	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	p.R312R(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						AGGCAGCGCGGCATAAACGGG	0.557													3	44					0	0	0	0	A	7056454	G	A	7056454	2	1	180	1	0	0	0	0	0	0	0	1	15602	1190	42	4		4	TADA2B	4	7056454	Silent	SNP	G	TCGA-CR-6474-01A-11D-1870-08	6620091	7056454	184097822	36	31642											
FBXL5	26234	broad.mit.edu	37	chr4	15632370	15632370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcacccattcatcatCaggttcagtatcaagttcag	11	15	5	10	0	7	0	7	0	0	0	7	0	7	0	1	1	0	3	1	1	2	6			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:15632370C>A	ENST00000341285.3	-	6	935	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	FBXL5_ENST00000382358.4_Missense_Mutation_p.D145Y|FBXL5_ENST00000412094.2_Missense_Mutation_p.D254Y	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	271					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CATTCATCATCAGGTTCAGTA	0.373													3	44					0.150653	0.154467	1	0	A	15632370	C	A	15632370	3	1	180	1	0	0	0	0	1	0	0	0	5767	826	29	2	1288	2	FBXL5	4	15632370	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	8575916	15632370	175521906	37	31643											
SLIT2	9353	broad.mit.edu	37	chr4	20482374	20482374	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcagctgtattgaagAtggggcattcagggctctcc	9	10	12	10	0	3	3	2	1	1	2	4	3	3	3	2	3	1	4	2	3	2	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:20482374A>T	ENST00000504154.1	+	6	755	c.503A>T	c.(502-504)gAt>gTt	p.D168V	SLIT2_ENST00000273739.5_Missense_Mutation_p.D168V|SLIT2_ENST00000503823.1_Missense_Mutation_p.D168V|SLIT2_ENST00000503837.1_Missense_Mutation_p.D168V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	168					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGTATTGAAGATGGGGCATTC	0.458													15	70					0	0	0	0	T	20482374	A	T	20482374	3	4	180	1	0	0	0	0	1	0	0	0	14828	333	12	5	525	5	SLIT2	4	20482374	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	4850004	20482374	170671902	38	31644											
BEND4	389206	broad.mit.edu	37	chr4	42145927	42145927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatggactgagaatggttgGagtccaggagttttcctcca	9	12	12	8	0	1	1	1	1	0	1	4	5	4	4	3	4	0	2	3	4	1	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:42145927G>T	ENST00000502486.1	-	3	1151	c.572C>A	c.(571-573)tCc>tAc	p.S191Y	BEND4_ENST00000504360.1_Missense_Mutation_p.S187Y	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	191										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AGAATGGTTGGAGTCCAGGAG	0.468													3	17					0.004672	0.0049147	1	0	T	42145927	G	T	42145927	3	4	180	1	0	0	0	0	1	0	0	0	1404	1174	41	2	1048	2	BEND4	4	42145927	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	21663553	42145927	149008349	39	31645											
WDFY3	23001	broad.mit.edu	37	chr4	85748035	85748035	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgtggtaataccagcTggttttagttcactgacacc	8	12	9	12	0	1	1	1	1	0	0	1	1	1	1	4	2	2	4	4	2	3	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:85748035T>A	ENST00000322366.6	-	10	1463	c.1056A>T	c.(1054-1056)ccA>ccT	p.P352P	WDFY3_ENST00000295888.4_Silent_p.P352P			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	352						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAATACCAGCTGGTTTTAGTT	0.438													7	50					0	0	0	0	A	85748035	T	A	85748035	2	1	180	1	0	0	0	0	0	0	0	1	17366	1567	55	5		5	WDFY3	4	85748035	Silent	SNP	T	TCGA-CR-6474-01A-11D-1870-08	43602108	85748035	105406241	40	31646											
DKK2	27123	broad.mit.edu	37	chr4	107847051	107847051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggccgatgatccttggtggGgactgtggcaatacctccca	8	9	13	11	1	0	1	0	1	0	0	2	3	2	2	4	5	1	1	4	5	2	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:107847051G>A	ENST00000285311.3	-	2	983	c.278C>T	c.(277-279)cCc>cTc	p.P93L	DKK2_ENST00000510463.1_Missense_Mutation_p.P47L|DKK2_ENST00000513208.1_5'UTR	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	93	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TCCTTGGTGGGGACTGTGGCA	0.512													3	88					0	0	0	0	A	107847051	G	A	107847051	3	1	180	1	0	0	0	0	1	0	0	0	4582	1232	43	4	513	4	DKK2	4	107847051	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	22099016	107847051	83307225	41	31647											
NDST4	64579	broad.mit.edu	37	chr4	115773929	115773929	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttggtaagtggtcacaagTtttctctctggaccagatgt	8	16	10	7	0	3	1	1	0	2	1	4	2	3	2	1	3	0	2	1	3	2	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:115773929T>G	ENST00000264363.2	-	8	2446	c.1768A>C	c.(1768-1770)Act>Cct	p.T590P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	590	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGGTCACAAGTTTTCTCTCTG	0.348													9	28					0	0	0	0	G	115773929	T	G	115773929	3	3	180	1	0	0	0	0	1	0	0	0	10328	1725	60	5	878	5	NDST4	4	115773929	Missense_Mutation	SNP	T	TCGA-CR-6474-01A-11D-1870-08	7926878	115773929	75380347	42	31648											
USP53	54532	broad.mit.edu	37	chr4	120213687	120213687	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttttcacgttgataactCtgcttctgggaagagagtga	9	13	11	8	1	3	3	1	2	2	1	3	5	3	4	1	1	2	2	1	1	2	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:120213687C>G	ENST00000450251.1	+	15	3087	c.2543C>G	c.(2542-2544)tCt>tGt	p.S848C	USP53_ENST00000274030.6_Missense_Mutation_p.S848C			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	848					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GTTGATAACTCTGCTTCTGGG	0.393													6	43					0	0	0	0	G	120213687	C	G	120213687	3	3	180	1	0	0	0	0	1	0	0	0	17180	913	32	2	2601	2	USP53	4	120213687	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	4439758	120213687	70940589	43	31649											
CCNA2	890	broad.mit.edu	37	chr4	122742139	122742139	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagagaacctttacctccaTttccctaaggtatgtgtgaa	11	13	7	10	0	1	2	1	1	0	1	3	3	3	2	4	1	2	1	4	1	5	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:122742139T>G	ENST00000274026.5	-	3	868	c.565A>C	c.(565-567)Atg>Ctg	p.M189L		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	189					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TTTACCTCCATTTCCCTAAGG	0.313													9	77					0	0	0	0	G	122742139	T	G	122742139	3	3	180	1	0	0	0	0	1	0	0	0	2939	1493	52	5	757	5	CCNA2	4	122742139	Missense_Mutation	SNP	T	TCGA-CR-6474-01A-11D-1870-08	2528452	122742139	68412137	44	31650											
MYO10	4651	broad.mit.edu	37	chr5	16761646	16761646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccaagatacctcggacatCatattgcacctagttttaat	12	13	5	11	1	1	1	1	0	0	1	3	2	2	2	3	1	2	2	3	1	5	6			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:16761646C>T	ENST00000513610.1	-	17	2120	c.1666G>A	c.(1666-1668)Gat>Aat	p.D556N		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	556	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCTCGGACATCATATTGCACC	0.383													18	107					0	0	0	0	T	16761646	C	T	16761646	3	4	180	1	0	0	0	0	1	0	0	0	10132	826	29	2	4610	2	MYO10	5	16761646	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08		16761646	164153614	45	31651											
EGFLAM	133584	broad.mit.edu	37	chr5	38464020	38464020	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcacttcaccctgtccaccGattaccacatttccctcgtg	7	12	4	18	2	2	0	2	0	0	0	5	1	4	0	5	0	1	0	5	0	1	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:38464020G>C	ENST00000322350.5	+	22	3308	c.2962G>C	c.(2962-2964)Gat>Cat	p.D988H	EGFLAM_ENST00000506135.1_Missense_Mutation_p.D131H|EGFLAM_ENST00000514476.1_Missense_Mutation_p.D131H|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D996H|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D354H|EGFLAM_ENST00000397210.3_Missense_Mutation_p.D131H|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D754H	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	996	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCTGTCCACCGATTACCACAT	0.512													11	54					0	0	0	0	C	38464020	G	C	38464020	3	2	180	1	0	0	0	0	1	0	0	0	5002	1058	37	3	3062	3	EGFLAM	5	38464020	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	21702374	38464020	142451240	46	31652											
FBXO4	26272	broad.mit.edu	37	chr5	41929884	41929884	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttcttttttacactccCtgatcattcagaatgaacca	11	15	3	12	0	4	3	3	2	1	1	5	3	5	3	2	0	2	0	2	0	3	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:41929884C>T	ENST00000296812.2	+	3	567	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	FBXO4_ENST00000281623.3_Silent_p.L171L|FBXO4_ENST00000509134.1_Silent_p.L171L	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	171					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	p.L171M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TTTACACTCCCTGATCATTCA	0.403													15	100					0	0	0	0	T	41929884	C	T	41929884	2	4	180	1	0	0	0	0	0	0	0	1	5793	680	24	4		4	FBXO4	5	41929884	Silent	SNP	C	TCGA-CR-6474-01A-11D-1870-08	3465864	41929884	138985376	47	31653											
DDX46	9879	broad.mit.edu	37	chr5	134121257	134121257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtggtctgtgtttacggagGaacaggaatcagtgagcagg	11	9	16	5	1	2	1	1	1	1	0	2	4	2	4	0	5	3	2	0	5	3	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:134121257G>C	ENST00000452510.2	+	11	1603	c.1445G>C	c.(1444-1446)gGa>gCa	p.G482A	DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000354283.4_Missense_Mutation_p.G482A	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	482	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTACGGAGGAACAGGAATC	0.363													8	68					0	0	0	0	C	134121257	G	C	134121257	3	2	180	1	0	0	0	0	1	0	0	0	4396	1174	41	2	1487	2	DDX46	5	134121257	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	92191373	134121257	46794003	48	31654											
SIL1	64374	broad.mit.edu	37	chr5	138283163	138283163	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctcctcctcggcgaacatCtgccatccgccacagccgca	7	6	8	20	4	1	0	0	0	1	0	5	1	4	0	7	1	3	1	7	1	1	0			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:138283163C>G	ENST00000394817.2	-	10	1169		c.e10-1		SIL1_ENST00000265195.5_Splice_Site|SIL1_ENST00000515008.1_Splice_Site|SIL1_ENST00000509534.1_Splice_Site	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor						intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CGGCGAACATCTGCCATCCGC	0.632									Marinesco-Sjgren syndrome				5	37					0	0	0	0	G	138283163	C	G	138283163	5	3	180	1	0	0	0	0	0	0	1	0	14409	927	32	2	360	2	SIL1	5	138283163	Splice_Site	SNP	C	TCGA-CR-6474-01A-11D-1870-08	4161906	138283163	42632097	49	31655											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798773	140798773	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgacgtcaatgacaacgcGccggttttcggacagtcagc	10	8	11	12	5	2	2	2	2	0	0	3	3	2	3	1	2	2	1	1	2	2	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:140798773G>A	ENST00000398594.2	+	1	1347	c.1347G>A	c.(1345-1347)gcG>gcA	p.A449A	PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018927.3	NP_061750.1												p.A449A(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAACGCGCCGGTTTTCG	0.572													4	49					0	0	0	0	A	140798773	G	A	140798773	2	1	180	1	0	0	0	0	0	0	0	1	11639	1074	38	1		1	PCDHGB7	5	140798773	Silent	SNP	G	TCGA-CR-6474-01A-11D-1870-08	2515610	140798773	40116487	50	31656											
AFAP1L1	134265	broad.mit.edu	37	chr5	148715178	148715178	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcaaataaaccccagAacagcgttccagagcaacct	17	5	6	13	1	0	2	0	0	0	2	1	2	1	2	4	0	7	3	4	0	6	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:148715178A>T	ENST00000296721.4	+	18	2274	c.2176A>T	c.(2176-2178)Aac>Tac	p.N726Y	AFAP1L1_ENST00000515000.1_Intron	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	726							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAACCCCAGAACAGCGTTCC	0.488													5	93					0	0	0	0	T	148715178	A	T	148715178	3	4	180	1	0	0	0	0	1	0	0	0	354	246	9	5	2246	5	AFAP1L1	5	148715178	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	7916405	148715178	32200082	51	31657											
ATP10B	23120	broad.mit.edu	37	chr5	160063305	160063305	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcaaaggtcccattccAgatgctgtgacctgagagga	10	11	10	10	0	2	3	1	2	1	2	4	5	4	4	3	2	1	1	3	2	1	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:160063305A>T	ENST00000327245.5	-	11	1858	c.1012T>A	c.(1012-1014)Tgg>Agg	p.W338R	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	338					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCCCATTCCAGATGCTGTGA	0.493													3	58					0	0	0	0	T	160063305	A	T	160063305	3	4	180	1	0	0	0	0	1	0	0	0	1121	188	7	5	3437	5	ATP10B	5	160063305	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	11348127	160063305	20851955	52	31658											
NRSN1	140767	broad.mit.edu	37	chr6	24145830	24145830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggattgactgttctggcaGtgggctttcttgtgcccccc	3	14	12	12	1	2	1	0	1	2	0	3	2	2	2	3	3	1	3	3	3	0	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:24145830G>T	ENST00000378491.4	+	4	545	c.244G>T	c.(244-246)Gtg>Ttg	p.V82L		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	82					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTCTGGCAGTGGGCTTTCT	0.478													14	149					4.36969e-10	4.882e-10	1	0	T	24145830	G	T	24145830	3	4	180	1	0	0	0	0	1	0	0	0	10733	1029	36	4	250	4	NRSN1	6	24145830	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08		24145830	146969237	53	31659											
SLC35B2	347734	broad.mit.edu	37	chr6	44222789	44222789	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagggccccctgttctagcAgtgagcccactgtgaagagg	8	8	14	11	0	1	3	0	2	1	1	1	3	1	3	3	2	2	3	3	2	3	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:44222789A>T	ENST00000393812.3	-	4	1096	c.953T>A	c.(952-954)cTg>cAg	p.L318Q	SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000537814.1_Missense_Mutation_p.L185Q|SLC35B2_ENST00000538577.1_Missense_Mutation_p.L225Q	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	318					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGTTCTAGCAGTGAGCCCAC	0.557													17	37					0	0	0	0	T	44222789	A	T	44222789	3	4	180	1	0	0	0	0	1	0	0	0	14664	188	7	5	349	5	SLC35B2	6	44222789	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	20076959	44222789	126892278	54	31660											
HCRTR2	3062	broad.mit.edu	37	chr6	55113547	55113547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgccttccagccacaCtggtcgtggatatcactgag	8	10	9	14	1	2	1	2	1	0	0	4	2	3	2	4	2	2	0	4	2	1	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:55113547C>A	ENST00000370862.3	+	2	670	c.334C>A	c.(334-336)Ctg>Atg	p.L112M		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	112					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCCAGCCACACTGGTCGTGGA	0.443													18	168					0.000132079	0.000141701	1	0	A	55113547	C	A	55113547	3	1	180	1	0	0	0	0	1	0	0	0	7052	564	20	4	340	4	HCRTR2	6	55113547	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	10890758	55113547	116001520	55	31661											
MDN1	23195	broad.mit.edu	37	chr6	90425374	90425374	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtaagagatacaaatacctGaaattgggatttggtgttat	14	14	10	3	0	0	2	0	1	0	1	0	4	0	3	1	2	2	2	1	2	6	6			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:90425374G>A	ENST00000369393.3	-	45	6973	c.6858C>T	c.(6856-6858)ttC>ttT	p.F2286F	MDN1_ENST00000428876.1_Silent_p.F2286F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2286					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACAAATACCTGAAATTGGGAT	0.403													10	113					0	0	0	0	A	90425374	G	A	90425374	2	1	180	1	0	0	0	0	0	0	0	1	9484	1281	45	2		2	MDN1	6	90425374	Silent	SNP	G	TCGA-CR-6474-01A-11D-1870-08	35311827	90425374	80689693	56	31662											
AIM1	202	broad.mit.edu	37	chr6	107016350	107016350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attttcctttcttttaggggGcacacagtatgatcaaaatc	11	15	7	8	0	2	1	1	1	1	0	4	1	3	1	1	2	0	2	1	2	4	6			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:107016350G>A	ENST00000369066.3	+	20	5568	c.5081G>A	c.(5080-5082)gGc>gAc	p.G1694D	AIM1_ENST00000535438.1_Missense_Mutation_p.G513D	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1694	Ricin B-type lectin.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CTTTTAGGGGGCACACAGTAT	0.398													4	127					0	0	0	0	A	107016350	G	A	107016350	3	1	180	1	0	0	0	0	1	0	0	0	430	1203	42	4	5159	4	AIM1	6	107016350	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	16590976	107016350	64098717	57	31663											
FAM184A	79632	broad.mit.edu	37	chr6	119324126	119324126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgcatttttctctcgatCtttcaactgcaaaagttgag	9	16	7	9	1	3	1	1	1	2	0	5	2	3	1	0	0	4	4	0	0	3	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:119324126C>G	ENST00000338891.7	-	9	2469	c.2026G>C	c.(2026-2028)Gat>Cat	p.D676H	FAM184A_ENST00000368475.4_Missense_Mutation_p.D556H|FAM184A_ENST00000352896.5_Missense_Mutation_p.D556H|FAM184A_ENST00000521531.1_Missense_Mutation_p.D676H|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	676										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTCTCTCGATCTTTCAACTGC	0.358													11	89					0	0	0	0	G	119324126	C	G	119324126	3	3	180	1	0	0	0	0	1	0	0	0	5553	913	32	2	1436	2	FAM184A	6	119324126	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	12307776	119324126	51790941	58	31664											
L3MBTL3	84456	broad.mit.edu	37	chr6	130370430	130370430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgtgttgttgctagtttCgggtaaatgagtttggagcc	6	16	14	5	1	0	1	0	1	0	0	1	2	0	2	1	2	3	7	1	2	3	6			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:130370430C>T	ENST00000529410.1	+	6	585	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.R36W|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.R36W|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.R36W|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.R36W|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.R36W			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	36					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TTGCTAGTTTCGGGTAAATGA	0.368													8	25					0	0	0	0	T	130370430	C	T	130370430	3	4	180	1	0	0	0	0	1	0	0	0	8646	875	31	1	112	1	L3MBTL3	6	130370430	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	11046304	130370430	40744637	59	31665											
BCLAF1	9774	broad.mit.edu	37	chr6	136597106	136597106	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagacttttctcgtgcatcCagattcttgtgtagaggggg	7	14	13	7	1	2	3	0	0	2	3	4	3	3	3	1	2	1	3	1	2	2	6			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:136597106C>G	ENST00000531224.1	-	5	1809	c.1557G>C	c.(1555-1557)ctG>ctC	p.L519L	BCLAF1_ENST00000353331.4_Silent_p.L517L|BCLAF1_ENST00000527759.1_Silent_p.L517L|BCLAF1_ENST00000530767.1_Silent_p.L346L|BCLAF1_ENST00000392348.2_Silent_p.L517L|BCLAF1_ENST00000527536.1_Silent_p.L519L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	519					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTCGTGCATCCAGATTCTTGT	0.423													12	310					0	0	0	0	G	136597106	C	G	136597106	2	3	180	1	0	0	0	0	0	0	0	1	1387	581	21	4		4	BCLAF1	6	136597106	Silent	SNP	C	TCGA-CR-6474-01A-11D-1870-08	6226676	136597106	34517961	60	31666											
GRM1	2911	broad.mit.edu	37	chr6	146480529	146480529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgctttcaaagagctggctgCccaggaaggcctctgtatcg	8	9	12	12	2	2	1	1	0	1	1	3	2	2	2	2	3	2	4	2	3	3	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:146480529C>T	ENST00000392299.2	+	3	1216	c.746C>T	c.(745-747)gCc>gTc	p.A249V	GRM1_ENST00000492807.2_Missense_Mutation_p.A249V|GRM1_ENST00000282753.1_Missense_Mutation_p.A249V|GRM1_ENST00000361719.2_Missense_Mutation_p.A249V|GRM1_ENST00000355289.4_Missense_Mutation_p.A249V|GRM1_ENST00000507907.1_Missense_Mutation_p.A249V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	249					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GAGCTGGCTGCCCAGGAAGGC	0.507													9	82					0	0	0	0	T	146480529	C	T	146480529	3	4	180	1	0	0	0	0	1	0	0	0	6846	739	26	4	752	4	GRM1	6	146480529	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	9883423	146480529	24634538	61	31667											
INTS1	26173	broad.mit.edu	37	chr7	1528988	1528988	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcgcactcacttggtcatCaccatctccatgagcatctt	8	12	7	14	1	5	1	3	1	2	0	6	1	5	1	2	1	2	2	2	1	0	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr7:1528988C>T	ENST00000389470.4	-	19	2693	c.2694G>A	c.(2692-2694)gtG>gtA	p.V898V	INTS1_ENST00000404767.3_Silent_p.V770V			Q8N201	INT1_HUMAN	integrator complex subunit 1	770					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ACTTGGTCATCACCATCTCCA	0.682													4	18					0	0	0	0	T	1528988	C	T	1528988	2	4	180	1	0	0	0	0	0	0	0	1	7828	813	29	2		2	INTS1	7	1528988	Silent	SNP	C	TCGA-CR-6474-01A-11D-1870-08		1528988	157609675	62	31668											
CLIP2	7461	broad.mit.edu	37	chr7	73790521	73790521	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtggcgggcctgaaggAcaaggttcagcaggccacca	10	4	17	10	1	1	1	1	1	0	0	1	3	1	3	3	7	1	2	3	7	2	1			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr7:73790521A>G	ENST00000223398.6	+	10	2117	c.1790A>G	c.(1789-1791)gAc>gGc	p.D597G	CLIP2_ENST00000361545.5_Missense_Mutation_p.D562G|CLIP2_ENST00000395060.1_Missense_Mutation_p.D597G	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	597						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGCCTGAAGGACAAGGTTCAG	0.612													5	21					0	0	0	0	G	73790521	A	G	73790521	3	3	180	1	0	0	0	0	1	0	0	0	3563	275	10	5	1824	5	CLIP2	7	73790521	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	72261533	73790521	85348142	63	31669											
CLIP2	7461	broad.mit.edu	37	chr7	73795176	73795176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaggagacgatcaggaCgaaggaaactgtggagggtg	13	6	17	5	2	2	2	2	0	0	2	2	8	2	5	0	5	1	0	0	5	2	1			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr7:73795176C>T	ENST00000223398.6	+	11	2789	c.2462C>T	c.(2461-2463)aCg>aTg	p.T821M	CLIP2_ENST00000361545.5_Missense_Mutation_p.T786M|CLIP2_ENST00000395060.1_Missense_Mutation_p.T821M	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	821						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACGATCAGGACGAAGGAAACT	0.602													26	85					0	0	0	0	T	73795176	C	T	73795176	3	4	180	1	0	0	0	0	1	0	0	0	3563	536	19	1	2500	1	CLIP2	7	73795176	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	4655	73795176	85343487	64	31670											
TRPV5	56302	broad.mit.edu	37	chr7	142625874	142625874	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgcaggtggtccccaTgtccatcgtaggacagcagc	7	7	15	12	1	0	0	0	0	0	0	3	1	2	1	3	5	3	4	3	5	1	1			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr7:142625874T>G	ENST00000265310.1	-	6	1022	c.674A>C	c.(673-675)cAt>cCt	p.H225P	TRPV5_ENST00000442623.1_Missense_Mutation_p.H225P	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	225					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTGGTCCCCATGTCCATCGTA	0.567													4	92					0	0	0	0	G	142625874	T	G	142625874	3	3	180	1	0	0	0	0	1	0	0	0	16694	1464	51	5	1555	5	TRPV5	7	142625874	Missense_Mutation	SNP	T	TCGA-CR-6474-01A-11D-1870-08	68830698	142625874	16512789	65	31671											
OR2F2	135948	broad.mit.edu	37	chr7	143632931	143632931	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggctgccatcatggtgtcTagcattgttcttctgatgac	7	14	11	9	0	4	2	1	2	3	0	4	3	4	2	1	2	2	3	1	2	1	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr7:143632931T>G	ENST00000408955.2	+	1	673	c.606T>G	c.(604-606)tcT>tcG	p.S202S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCATGGTGTCTAGCATTGTTC	0.478													15	56					0	0	0	0	G	143632931	T	G	143632931	2	3	180	1	0	0	0	0	0	0	0	1	11068	1509	53	5		5	OR2F2	7	143632931	Silent	SNP	T	TCGA-CR-6474-01A-11D-1870-08	1007057	143632931	15505732	66	31672											
POTEA	340441	broad.mit.edu	37	chr8	43147925	43147925	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaagggacaagaagaagAggtaaccgggcctggggctg	15	3	16	7	1	0	3	0	0	0	3	0	4	0	4	2	5	1	2	2	5	6	1			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr8:43147925A>G	ENST00000522175.2	+	0	300							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAAGAAGAAGAGGTAACCGGG	0.627													3	56					0	0	0	0	G	43147925	A	G	43147925	1	3	180	0	1	0	0	0	0	0	0	0	12333	318	11	5		5	POTEA	8	43147925	RNA	SNP	A	TCGA-CR-6474-01A-11D-1870-08		43147925	103216097	67	31673											
ATP6V1C1	528	broad.mit.edu	37	chr8	104054601	104054601	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtcttggttggcttgtcaGatgaactggctaaactggat	9	14	12	6	0	2	2	1	1	1	1	2	3	2	3	0	4	2	3	0	4	3	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr8:104054601G>A	ENST00000521514.1	+	0	172				ATP6V1C1_ENST00000518857.1_Intron|ATP6V1C1_ENST00000395862.3_Missense_Mutation_p.D56N|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.D56N			P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TGGCTTGTCAGATGAACTGGC	0.363													12	128					0	0	0	0	A	104054601	G	A	104054601	1	1	180	1	0	0	0	0	0	0	0	0	1184	942	33	2		2	ATP6V1C1	8	104054601	Translation_Start_Site	SNP	G	TCGA-CR-6474-01A-11D-1870-08	60906676	104054601	42309421	68	31674											
RGS3	5998	broad.mit.edu	37	chr9	116356436	116356436	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaggattccagagagcGtgtgtggctgcagcctgcac	8	7	15	11	1	0	1	0	0	0	1	1	3	1	2	3	3	4	3	3	3	0	1			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr9:116356436G>A	ENST00000462403.1	+	1	671	c.237G>A	c.(235-237)gcG>gcA	p.A79A	RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000374140.2_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	0					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCAGAGAGCGTGTGTGGCTG	0.667													13	54					0	0	0	0	A	116356436	G	A	116356436	2	1	180	1	0	0	0	0	0	0	0	1	13389	1132	40	1		1	RGS3	9	116356436	Silent	SNP	G	TCGA-CR-6474-01A-11D-1870-08		116356436	24856995	69	31675											
GPR107	57720	broad.mit.edu	37	chr9	132887236	132887236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaacttttcagacattattAcgtcttggtaagtaaaaaaa	17	13	6	5	1	2	1	1	0	1	1	2	2	2	1	0	1	2	2	0	1	8	7			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr9:132887236A>G	ENST00000372406.1	+	17	2000	c.1493A>G	c.(1492-1494)tAc>tGc	p.Y498C	GPR107_ENST00000347136.6_Missense_Mutation_p.Y450C|GPR107_ENST00000372410.3_Missense_Mutation_p.Y469C	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	498						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AGACATTATTACGTCTTGGTA	0.308													2	3					0	0	0	0	G	132887236	A	G	132887236	3	3	180	1	0	0	0	0	1	0	0	0	6672	391	14	5	1559	5	GPR107	9	132887236	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	16530800	132887236	8326195	70	31676											
SFMBT2	57713	broad.mit.edu	37	chr10	7423850	7423850	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatattggaagctgacaaaGtgctctccatgcctgatgag	11	10	11	9	0	1	3	0	3	1	0	2	4	1	4	2	1	3	3	2	1	3	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:7423850G>C	ENST00000361972.4	-	2	101	c.11C>G	c.(10-12)aCt>aGt	p.T4S	SFMBT2_ENST00000379713.3_Missense_Mutation_p.T4S|SFMBT2_ENST00000397167.1_Missense_Mutation_p.T4S|SFMBT2_ENST00000397160.3_Missense_Mutation_p.T4S|SFMBT2_ENST00000379711.2_Missense_Mutation_p.T4S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	4					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AGCTGACAAAGTGCTCTCCAT	0.398													28	53					0	0	0	0	C	7423850	G	C	7423850	3	2	180	1	0	0	0	0	1	0	0	0	14245	1029	36	4	2753	4	SFMBT2	10	7423850	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08		7423850	128110897	71	31677											
MYO3A	53904	broad.mit.edu	37	chr10	26482144	26482144	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttataggtgtctgtaaAggagaggagccaaaaatatt	14	13	10	4	0	2	1	0	0	2	1	2	3	2	2	1	3	1	1	1	3	7	6			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:26482144A>T	ENST00000265944.5	+	32	4615	c.4449A>T	c.(4447-4449)aaA>aaT	p.K1483N	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1483					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTGTCTGTAAAGGAGAGGAGC	0.333													3	30					0	0	0	0	T	26482144	A	T	26482144	3	4	180	1	0	0	0	0	1	0	0	0	10146	69	3	5	4567	5	MYO3A	10	26482144	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	19058294	26482144	109052603	72	31678											
PARD3	56288	broad.mit.edu	37	chr10	34671564	34671564	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	attctgaggtgccgaggctgGagcggatggtggttttcccg	5	11	17	8	3	1	1	0	1	1	0	2	4	2	3	2	6	2	2	2	6	0	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:34671564G>C	ENST00000374789.3	-	9	1628	c.1303C>G	c.(1303-1305)Cca>Gca	p.P435A	PARD3_ENST00000374794.3_Missense_Mutation_p.P391A|PARD3_ENST00000350537.4_Missense_Mutation_p.P435A|PARD3_ENST00000544292.1_Missense_Mutation_p.P165A|PARD3_ENST00000340077.5_Missense_Mutation_p.P435A|PARD3_ENST00000374773.1_Missense_Mutation_p.P435A|PARD3_ENST00000374776.1_Missense_Mutation_p.P435A|PARD3_ENST00000545693.1_Missense_Mutation_p.P435A|PARD3_ENST00000374788.3_Missense_Mutation_p.P435A|PARD3_ENST00000346874.4_Missense_Mutation_p.P435A|PARD3_ENST00000545260.1_Missense_Mutation_p.P391A|PARD3_ENST00000374790.3_Missense_Mutation_p.P391A	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	435					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCCGAGGCTGGAGCGGATGGT	0.502													3	75					0	0	0	0	C	34671564	G	C	34671564	3	2	180	1	0	0	0	0	1	0	0	0	11514	1174	41	2	2870	2	PARD3	10	34671564	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	8189420	34671564	100863183	73	31679											
ARID5B	84159	broad.mit.edu	37	chr10	63759919	63759919	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggtaccgctcgatgcTgaaacgcatccaggataagc	10	7	11	13	4	0	1	0	1	0	0	2	3	1	2	3	2	5	4	3	2	3	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:63759919T>C	ENST00000279873.7	+	4	982	c.572T>C	c.(571-573)cTg>cCg	p.L191P		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	191					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CGCTCGATGCTGAAACGCATC	0.532													3	67					0	0	0	0	C	63759919	T	C	63759919	3	2	180	1	0	0	0	0	1	0	0	0	924	1580	55	5	586	5	ARID5B	10	63759919	Missense_Mutation	SNP	T	TCGA-CR-6474-01A-11D-1870-08	29088355	63759919	71774828	74	31680											
SFXN4	119559	broad.mit.edu	37	chr10	120917410	120917410	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtttccattgatgctgttGaacgctgccatgtaggcaca	8	13	10	10	1	0	2	0	2	0	0	1	2	1	2	2	1	3	6	2	1	2	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:120917410G>A	ENST00000355697.2	-	8	463	c.444C>T	c.(442-444)ttC>ttT	p.F148F	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Silent_p.F139F	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	148					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TGATGCTGTTGAACGCTGCCA	0.418													9	60					0	0	0	0	A	120917410	G	A	120917410	2	1	180	1	0	0	0	0	0	0	0	1	14284	1281	45	2		2	SFXN4	10	120917410	Silent	SNP	G	TCGA-CR-6474-01A-11D-1870-08	57157491	120917410	14617337	75	31681											
MKI67	4288	broad.mit.edu	37	chr10	129907526	129907526	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaggctctgtctcagtatCtgaagtttttgtctccagag	8	15	10	8	0	4	3	1	2	4	1	6	3	4	3	1	1	0	3	1	1	3	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:129907526C>G	ENST00000368654.3	-	13	2953	c.2578G>C	c.(2578-2580)Gat>Cat	p.D860H	MKI67_ENST00000368653.3_Missense_Mutation_p.D500H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	860					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTCTCAGTATCTGAAGTTTTT	0.433													18	171					0	0	0	0	G	129907526	C	G	129907526	3	3	180	1	0	0	0	0	1	0	0	0	9667	913	32	2	7204	2	MKI67	10	129907526	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	8990116	129907526	5627221	76	31682											
EBF3	253738	broad.mit.edu	37	chr10	131761669	131761669	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacaaaagcggtcctttCaatctccaccggctgcccct	8	9	7	17	2	2	0	1	0	1	0	5	0	4	0	6	2	2	1	6	2	3	1			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:131761669C>A	ENST00000368648.3	-	2	325	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	EBF3_ENST00000355311.5_Nonsense_Mutation_p.E85*	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	85					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCGGTCCTTTCAATCTCCACC	0.557													26	121					1.39806e-14	1.60628e-14	1	0	A	131761669	C	A	131761669	4	1	180	1	0	0	0	0	0	1	0	0	4918	835	29	2	1462	2	EBF3	10	131761669	Nonsense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	1854143	131761669	3773078	77	31683											
MUC6	4588	broad.mit.edu	37	chr11	1028716	1028716	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggcgcagctggaccacGagctccagcccgaagctggt	8	5	15	13	3	0	0	0	0	0	0	1	3	1	1	3	4	4	4	3	4	1	0			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr11:1028716G>T	ENST00000421673.2	-	13	1571	c.1521C>A	c.(1519-1521)ctC>ctA	p.L507L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	507	VWFD 2.				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)		GCTGGACCACGAGCTCCAGCC	0.642													4	19					0.00024832	0.000264657	1	0	T	1028716	G	T	1028716	2	4	180	1	0	0	0	0	0	0	0	1	10050	1045	37	3		3	MUC6	11	1028716	Silent	SNP	G	TCGA-CR-6474-01A-11D-1870-08		1028716	133977800	78	31684											
LRRC4C	57689	broad.mit.edu	37	chr11	40137506	40137506	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccaatttcaatggttcTgatatggttcctactcaact	10	14	6	11	0	3	1	2	1	1	0	4	1	4	1	3	2	3	2	3	2	5	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr11:40137506T>G	ENST00000278198.2	-	2	2300	c.337A>C	c.(337-339)Aga>Cga	p.R113R	LRRC4C_ENST00000527150.1_Silent_p.R113R|LRRC4C_ENST00000528697.1_Silent_p.R113R|LRRC4C_ENST00000530763.1_Silent_p.R113R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	113					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCAATGGTTCTGATATGGTTC	0.438													16	45					0	0	0	0	G	40137506	T	G	40137506	2	3	180	1	0	0	0	0	0	0	0	1	9072	1588	55	5		5	LRRC4C	11	40137506	Silent	SNP	T	TCGA-CR-6474-01A-11D-1870-08	39108790	40137506	94869010	79	31685											
OR5M8	219484	broad.mit.edu	37	chr11	56258421	56258421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acataaggcaccgtgatgagGaaggagcacacactcttgga	14	6	12	9	1	1	2	0	2	1	0	1	5	1	5	1	4	1	2	1	4	2	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr11:56258421G>T	ENST00000327216.2	-	1	450	c.426C>A	c.(424-426)ttC>ttA	p.F142L		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCGTGATGAGGAAGGAGCACA	0.512													19	85					5.03518e-11	5.70419e-11	1	0	T	56258421	G	T	56258421	3	4	180	1	0	0	0	0	1	0	0	0	11247	1165	41	2	513	2	OR5M8	11	56258421	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	16120915	56258421	78748095	80	31686											
CPSF7	79869	broad.mit.edu	37	chr11	61196680	61196680	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaactcctcgtcagcatataTatcaatcaagtccactcctt	12	12	4	13	1	3	0	3	0	0	0	7	1	6	0	3	0	2	1	3	0	6	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr11:61196680T>A	ENST00000340437.4	-	2	237	c.157A>T	c.(157-159)Ata>Tta	p.I53L	CPSF7_ENST00000541963.1_Missense_Mutation_p.I10L|CPSF7_ENST00000448745.1_Missense_Mutation_p.I10L|CPSF7_ENST00000439958.3_Missense_Mutation_p.I10L|CPSF7_ENST00000394888.4_Missense_Mutation_p.I10L	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	10	Poly-Pro.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TCAGCATATATATCAATCAAG	0.478													35	212					0	0	0	0	A	61196680	T	A	61196680	3	1	180	1	0	0	0	0	1	0	0	0	3860	1406	49	5	1419	5	CPSF7	11	61196680	Missense_Mutation	SNP	T	TCGA-CR-6474-01A-11D-1870-08	4938259	61196680	73809836	81	31687											
SLC3A2	6520	broad.mit.edu	37	chr11	62655847	62655847	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcctttccttgttccggcgGctgagtgaccagcggagtaa	6	11	12	12	3	0	2	0	2	0	0	3	3	3	3	4	3	1	3	4	3	1	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr11:62655847G>T	ENST00000377892.1	+	13	1892	c.1668G>T	c.(1666-1668)cgG>cgT	p.R556R	SLC3A2_ENST00000535296.1_Silent_p.R494R|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Silent_p.R424R|SLC3A2_ENST00000377889.2_Silent_p.R463R|SLC3A2_ENST00000377891.2_Silent_p.R526R|SLC3A2_ENST00000377890.2_Silent_p.R525R|SLC3A2_ENST00000536981.1_Silent_p.R70R			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	525					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.R556R(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TGTTCCGGCGGCTGAGTGACC	0.587													22	69					1.50039e-11	1.71171e-11	1	0	T	62655847	G	T	62655847	2	4	180	1	0	0	0	0	0	0	0	1	14715	1190	42	4		4	SLC3A2	11	62655847	Silent	SNP	G	TCGA-CR-6474-01A-11D-1870-08	1459167	62655847	72350669	82	31688											
CASC1	55259	broad.mit.edu	37	chr12	25308336	25308336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagttcttcatttctcCtttctagatcctgttgcaca	7	18	4	12	0	5	1	2	0	3	1	7	1	6	1	2	0	1	3	2	0	2	7			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr12:25308336C>A	ENST00000354189.5	-	5	418	c.383G>T	c.(382-384)aGg>aTg	p.R128M	CASC1_ENST00000395987.3_Missense_Mutation_p.R70M|CASC1_ENST00000395990.2_Missense_Mutation_p.R24M|CASC1_ENST00000320267.9_Missense_Mutation_p.R64M|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Missense_Mutation_p.R5M|CASC1_ENST00000537577.1_De_novo_Start_InFrame	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	64										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTCATTTCTCCTTTCTAGATC	0.343													7	20					0.0381472	0.0393621	1	0	A	25308336	C	A	25308336	3	1	180	1	0	0	0	0	1	0	0	0	2685	681	24	4	2007	4	CASC1	12	25308336	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08		25308336	108543559	83	31689											
LIMA1	51474	broad.mit.edu	37	chr12	50571764	50571764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggtctgtgcccaaagcCttcatcatagttgcccttag	7	13	10	11	0	3	0	2	0	1	0	3	0	3	0	3	1	3	1	3	1	3	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr12:50571764C>T	ENST00000547825.1	-	5	1726	c.457G>A	c.(457-459)Ggc>Agc	p.G153S	LIMA1_ENST00000552823.1_Missense_Mutation_p.G295S|LIMA1_ENST00000552909.1_Missense_Mutation_p.G294S|LIMA1_ENST00000552783.1_Missense_Mutation_p.G296S|LIMA1_ENST00000552491.1_Missense_Mutation_p.G152S|LIMA1_ENST00000394943.3_Missense_Mutation_p.G456S|LIMA1_ENST00000341247.4_Missense_Mutation_p.G455S	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	455					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TGCCCAAAGCCTTCATCATAG	0.418													8	163					0	0	0	0	T	50571764	C	T	50571764	3	4	180	1	0	0	0	0	1	0	0	0	8850	681	24	4	920	4	LIMA1	12	50571764	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	25263428	50571764	83280131	84	31690											
CEP290	80184	broad.mit.edu	37	chr12	88535027	88535027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgccagttcttcttgacGgggcaggtcatctgggtcaa	7	12	12	10	1	6	1	2	1	4	0	6	1	6	1	1	4	1	2	1	4	1	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr12:88535027G>A	ENST00000552810.1	-	2	401	c.58C>T	c.(58-60)Cgt>Tgt	p.R20C	CEP290_ENST00000309041.7_Missense_Mutation_p.R20C	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	20					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCTTCTTGACGGGGCAGGTCA	0.333													14	27					0	0	0	0	A	88535027	G	A	88535027	3	1	180	1	0	0	0	0	1	0	0	0	3282	1116	39	1	7593	1	CEP290	12	88535027	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	37963263	88535027	45316868	85	31691											
FRY	10129	broad.mit.edu	37	chr13	32653003	32653003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaacggttacatcaagcctCcggttccacctgcttctggc	7	10	9	15	2	2	0	1	0	1	0	4	0	4	0	4	3	4	4	4	3	3	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr13:32653003C>A	ENST00000380250.3	+	2	599	c.103C>A	c.(103-105)Ccg>Acg	p.P35T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CATCAAGCCTCCGGTTCCACC	0.478													41	229					4.32679e-17	5.00672e-17	1	0	A	32653003	C	A	32653003	3	1	180	1	0	0	0	0	1	0	0	0	6111	855	30	2	109	2	FRY	13	32653003	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08		32653003	82516875	86	31692											
MYH6	4624	broad.mit.edu	37	chr14	23874010	23874010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgcttggtgttcacagtCttccccgccccggattctcc	5	11	8	17	3	3	0	1	0	2	0	5	1	4	1	5	2	0	2	5	2	0	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr14:23874010C>A	ENST00000405093.3	-	7	622	c.552G>T	c.(550-552)aaG>aaT	p.K184N	MYH6_ENST00000356287.3_Missense_Mutation_p.K184N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	184	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGTTCACAGTCTTCCCCGCCC	0.552													7	58					1.06961e-07	1.17079e-07	1	0	A	23874010	C	A	23874010	3	1	180	1	0	0	0	0	1	0	0	0	10108	912	32	2	5399	2	MYH6	14	23874010	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08		23874010	83475530	87	31693											
SIPA1L1	26037	broad.mit.edu	37	chr14	72152344	72152344	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgggcgcccactagagAggcggtaagtgtgccttcaa	9	7	15	10	3	1	2	1	1	0	1	1	3	1	2	2	3	1	1	2	3	3	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr14:72152344A>T	ENST00000555818.1	+	10	3718	c.3370A>T	c.(3370-3372)Agg>Tgg	p.R1124W	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R599W|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1124W|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1124W	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1124					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCCACTAGAGAGGCGGTAAGT	0.507													7	33					0	0	0	0	T	72152344	A	T	72152344	3	4	180	1	0	0	0	0	1	0	0	0	14417	295	11	5	3404	5	SIPA1L1	14	72152344	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	48278334	72152344	35197196	88	31694											
RCOR1	23186	broad.mit.edu	37	chr14	103187405	103187405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgatggtggaatagaacCatatcgacttccagaggtag	13	10	11	7	1	0	3	0	1	0	2	2	5	1	4	2	3	1	1	2	3	5	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr14:103187405C>A	ENST00000262241.6	+	9	1341	c.1115C>A	c.(1114-1116)cCa>cAa	p.P372Q	RCOR1_ENST00000570597.1_Missense_Mutation_p.P369Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	369	Interaction with KDM1A.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GGAATAGAACCATATCGACTT	0.303													5	159					0.0293803	0.0305104	1	0	A	103187405	C	A	103187405	3	1	180	1	0	0	0	0	1	0	0	0	13264	594	21	4	1140	4	RCOR1	14	103187405	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	31035061	103187405	4162135	89	31695											
FMN1	342184	broad.mit.edu	37	chr15	33358886	33358886	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttaaaagcctccagggcTgtctctggcgactttggctt	6	13	11	11	1	1	0	0	0	1	0	3	1	2	0	2	3	1	3	2	3	2	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:33358886T>A	ENST00000334528.9	-	1	1199	c.1200A>T	c.(1198-1200)acA>acT	p.T400T	FMN1_ENST00000559047.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000558197.1_Silent_p.T400T|FMN1_ENST00000561249.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	497	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCTCCAGGGCTGTCTCTGGCG	0.577													16	58					0	0	0	0	A	33358886	T	A	33358886	2	1	180	1	0	0	0	0	0	0	0	1	5994	1567	55	5		5	FMN1	15	33358886	Silent	SNP	T	TCGA-CR-6474-01A-11D-1870-08		33358886	69172506	90	31696											
THBS1	7057	broad.mit.edu	37	chr15	39884784	39884784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagctggactctgactcaGaccgcattggagatacctgt	9	11	10	11	1	3	3	2	1	1	2	3	5	3	4	2	2	2	2	2	2	1	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:39884784G>A	ENST00000260356.5	+	17	2713	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	850					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTCTGACTCAGACCGCATTGG	0.448													5	14					0	0	0	0	A	39884784	G	A	39884784	3	1	180	1	0	0	0	0	1	0	0	0	15947	942	33	2	2610	2	THBS1	15	39884784	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	6525898	39884784	62646608	91	31697											
THBS1	7057	broad.mit.edu	37	chr15	39884823	39884823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacaacaatcaggatattGatgaagatggccaccagaac	16	7	10	8	0	1	5	1	3	0	2	1	6	1	6	2	2	2	0	2	2	5	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:39884823G>A	ENST00000260356.5	+	17	2752	c.2587G>A	c.(2587-2589)Gat>Aat	p.D863N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	863					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCAGGATATTGATGAAGATGG	0.468													7	19					0	0	0	0	A	39884823	G	A	39884823	3	1	180	1	0	0	0	0	1	0	0	0	15947	1290	45	2	2649	2	THBS1	15	39884823	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	39	39884823	62646569	92	31698											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499449	59499449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcccttgtggatcttgatGaagacaaactgaagggtgag	11	11	13	6	0	1	5	0	4	1	1	1	6	1	6	1	2	2	0	1	2	3	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:59499449G>A	ENST00000307144.4	+	1	408	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	104					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GGATCTTGATGAAGACAAACT	0.438													18	122					0	0	0	0	A	59499449	G	A	59499449	3	1	180	1	0	0	0	0	1	0	0	0	8753	1291	45	2	312	2	LDHAL6B	15	59499449	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	19614626	59499449	43031943	93	31699											
MORF4L1	10933	broad.mit.edu	37	chr15	79172896	79172896	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacaagtgaaatacttcAtacattacagtggttggaat	17	11	7	6	0	1	1	1	1	0	0	1	2	1	2	0	2	4	1	0	2	7	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:79172896A>G	ENST00000331268.5	+	3	334	c.130A>G	c.(130-132)Ata>Gta	p.I44V	MORF4L1_ENST00000558502.1_Intron|MORF4L1_ENST00000426013.2_Missense_Mutation_p.I44V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.I69V|MORF4L1_ENST00000559345.1_5'UTR|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000558746.1_Missense_Mutation_p.I44V	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	44	Interaction with MYST1.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						GAAATACTTCATACATTACAG	0.289													10	30					0	0	0	0	G	79172896	A	G	79172896	3	3	180	1	0	0	0	0	1	0	0	0	9776	217	8	5	140	5	MORF4L1	15	79172896	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	19673447	79172896	23358496	94	31700											
DET1	55070	broad.mit.edu	37	chr15	89074302	89074302	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgacaagaccaccttgTcacacttgaacgtgcgtgta	10	11	10	10	2	1	3	1	2	0	1	1	3	1	3	2	0	2	1	2	0	3	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:89074302T>C	ENST00000564406.1	-	3	828	c.668A>G	c.(667-669)gAc>gGc	p.D223G	DET1_ENST00000558413.1_Intron|DET1_ENST00000444300.1_Missense_Mutation_p.D223G|DET1_ENST00000268148.8_Missense_Mutation_p.D212G	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	212						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GACCACCTTGTCACACTTGAA	0.502													13	53					0	0	0	0	C	89074302	T	C	89074302	3	2	180	1	0	0	0	0	1	0	0	0	4487	1667	58	5	1033	5	DET1	15	89074302	Missense_Mutation	SNP	T	TCGA-CR-6474-01A-11D-1870-08	9901406	89074302	13457090	95	31701											
WDR90	197335	broad.mit.edu	37	chr16	705335	705335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcgggcagggcagtgtgCggctctggcggctgcgtggc	2	7	21	11	5	1	0	0	0	1	0	1	0	1	0	0	6	3	4	0	6	0	0			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr16:705335C>T	ENST00000549091.1	+	15	1677	c.1585C>T	c.(1585-1587)Cgg>Tgg	p.R529W	WDR90_ENST00000293879.4_Missense_Mutation_p.R529W|LA16c-349E10.1_ENST00000573609.1_RNA	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	529										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGCAGTGTGCGGCTCTGGCG	0.697													3	33					0	0	0	0	T	705335	C	T	705335	3	4	180	1	0	0	0	0	1	0	0	0	17433	759	27	1	1643	1	WDR90	16	705335	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08		705335	89649418	96	31702											
KIAA0430	9665	broad.mit.edu	37	chr16	15694394	15694394	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgattggcaggggagagactGagtgaactcaaacgacctac	13	7	13	8	1	1	4	1	3	0	1	1	7	1	5	1	3	3	1	1	3	3	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr16:15694394G>C	ENST00000396368.3	-	25	4910	c.4704C>G	c.(4702-4704)ctC>ctG	p.L1568L	KIAA0430_ENST00000344181.3_Silent_p.L1256L|KIAA0430_ENST00000551742.1_Silent_p.L1568L|KIAA0430_ENST00000548025.1_Silent_p.L1565L|KIAA0430_ENST00000602337.1_Silent_p.L1565L|KIAA0430_ENST00000540441.2_Silent_p.L1403L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1567						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGGAGAGACTGAGTGAACTCA	0.552													22	74					0	0	0	0	C	15694394	G	C	15694394	2	2	180	1	0	0	0	0	0	0	0	1	8228	1277	45	2		2	KIAA0430	16	15694394	Silent	SNP	G	TCGA-CR-6474-01A-11D-1870-08	14989059	15694394	74660359	97	31703											
ADAMTS18	170692	broad.mit.edu	37	chr16	77397755	77397755	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacgtttatgtcacttccaaTagtcccatctttaaataggc	11	14	5	11	1	2	0	1	0	1	0	4	0	4	0	2	1	0	1	2	1	6	7			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr16:77397755T>G	ENST00000282849.5	-	6	1418	c.1000A>C	c.(1000-1002)Att>Ctt	p.I334L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	334	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCACTTCCAATAGTCCCATCT	0.383													8	41					0	0	0	0	G	77397755	T	G	77397755	3	3	180	1	0	0	0	0	1	0	0	0	263	1406	49	5	2737	5	ADAMTS18	16	77397755	Missense_Mutation	SNP	T	TCGA-CR-6474-01A-11D-1870-08	61703361	77397755	12956998	98	31704											
RNMTL1	55178	broad.mit.edu	37	chr17	691248	691248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttaagatgacatatccaaaGactcagcttcagcattcact	14	11	6	10	0	3	3	3	1	0	2	4	3	4	3	1	0	2	3	1	0	3	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:691248G>A	ENST00000304478.4	+	3	709	c.603G>A	c.(601-603)aaG>aaA	p.K201K		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	201					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CATATCCAAAGACTCAGCTTC	0.483													14	187					0	0	0	0	A	691248	G	A	691248	2	1	180	1	0	0	0	0	0	0	0	1	13592	933	33	2		2	RNMTL1	17	691248	Silent	SNP	G	TCGA-CR-6474-01A-11D-1870-08		691248	80503962	99	31705											
MNT	4335	broad.mit.edu	37	chr17	2298243	2298243	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggtccccagcgtgggTgggggcggctgctggggggc	2	7	22	10	2	1	0	1	0	0	0	2	0	2	0	2	8	2	2	2	8	0	1			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:2298243T>G	ENST00000174618.4	-	2	984	c.579A>C	c.(577-579)ccA>ccC	p.P193P		NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	193					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CCAGCGTGGGTGGGGGCGGCT	0.672													4	13					0	0	0	0	G	2298243	T	G	2298243	2	3	180	1	0	0	0	0	0	0	0	1	9748	1683	59	5		5	MNT	17	2298243	Silent	SNP	T	TCGA-CR-6474-01A-11D-1870-08	1606995	2298243	78896967	100	31706											
NEURL4	84461	broad.mit.edu	37	chr17	7230951	7230951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctgtggcagccacacCgcaatcccgcccattcaccc	8	5	8	20	2	1	0	1	0	0	0	2	0	2	0	6	2	1	2	6	2	1	1			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:7230951C>A	ENST00000399464.2	-	2	550	c.535G>T	c.(535-537)Ggt>Tgt	p.G179C	NEURL4_ENST00000315614.7_Missense_Mutation_p.G179C|NEURL4_ENST00000570460.1_Missense_Mutation_p.G179C	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCCACACCGCAATCCCGC	0.652													32	43					2.20262e-25	2.60456e-25	1	0	A	7230951	C	A	7230951	3	1	180	1	0	0	0	0	1	0	0	0	10417	652	23	3	4265	3	NEURL4	17	7230951	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	4932708	7230951	73964259	101	31707											
TP53	7157	broad.mit.edu	37	chr17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgggcctccggttcatgCcgcccatgcaggaactgtta	7	9	13	12	2	1	0	1	0	0	0	2	2	2	2	4	4	3	3	4	4	2	2	rs121912656		TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:7577547C>A	ENST00000420246.2	-	7	866	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000269305.4_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTTCATGCCGCCCATGCA	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			40	42					1.62957e-23	1.91298e-23	1	0	A	7577547	C	A	7577547	3	1	180	1	0	0	0	0	1	0	0	0	16476	739	26	4	556	4	TP53	17	7577547	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	346596	7577547	73617663	102	31708											
WRAP53	55135	broad.mit.edu	37	chr17	7592167	7592167	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagctgtgtcccaggagctAcgggagggggacccagtttc	7	8	15	11	1	1	0	1	0	0	0	3	3	2	3	2	4	3	3	2	4	1	2	rs111433356		TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:7592167A>G	ENST00000316024.5	+	1	2549	c.201A>G	c.(199-201)ctA>ctG	p.L67L	WRAP53_ENST00000431639.2_Silent_p.L67L|WRAP53_ENST00000457584.2_Silent_p.L67L|WRAP53_ENST00000534050.1_Silent_p.L67L|WRAP53_ENST00000396463.2_Silent_p.L67L			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	67					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CCCAGGAGCTACGGGAGGGGG	0.577													29	90					0	0	0	0	G	7592167	A	G	7592167	2	3	180	1	0	0	0	0	0	0	0	1	17496	378	14	5		5	WRAP53	17	7592167	Silent	SNP	A	TCGA-CR-6474-01A-11D-1870-08	14620	7592167	73603043	103	31709											
PER1	5187	broad.mit.edu	37	chr17	8047060	8047060	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggggtgggccagggggTggagggtggcacgggtgagg	4	6	27	4	1	0	1	0	1	0	0	0	2	0	2	1	11	0	1	1	11	0	0			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:8047060T>G	ENST00000317276.4	-	19	2833	c.2596A>C	c.(2596-2598)Acc>Ccc	p.T866P	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Missense_Mutation_p.T843P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	866	Pro-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.T866P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCAGGGGGTGGAGGGTGGC	0.667			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					4	24					0	0	0	0	G	8047060	T	G	8047060	3	3	180	1	0	0	0	0	1	0	0	0	11800	1696	59	5	1296	5	PER1	17	8047060	Missense_Mutation	SNP	T	TCGA-CR-6474-01A-11D-1870-08	454893	8047060	73148150	104	31710											
MYH8	4626	broad.mit.edu	37	chr17	10293886	10293886	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagctcatgctggagtttgCggaatttagatagattagca	11	12	11	7	1	1	2	1	0	0	2	1	4	1	4	1	2	4	4	1	2	4	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:10293886C>G	ENST00000403437.2	-	40	5793	c.5699G>C	c.(5698-5700)cGc>cCc	p.R1900P	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1900					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGGAGTTTGCGGAATTTAGA	0.453									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				19	143					0	0	0	0	G	10293886	C	G	10293886	3	3	180	1	0	0	0	0	1	0	0	0	10111	768	27	3	118	3	MYH8	17	10293886	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	2246826	10293886	70901324	105	31711											
FLII	2314	broad.mit.edu	37	chr17	18156743	18156743	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggaattcaggtacagcttCttcagcttgctcagcttgca	8	14	9	10	0	4	0	3	0	1	0	4	1	4	1	0	2	6	6	0	2	2	7			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:18156743C>T	ENST00000327031.4	-	9	1110	c.885G>A	c.(883-885)aaG>aaA	p.K295K	FLII_ENST00000584444.1_5'UTR|FLII_ENST00000579294.1_Silent_p.K284K|FLII_ENST00000379450.4_Silent_p.K210K|FLII_ENST00000578558.1_Silent_p.K295K|FLII_ENST00000545457.2_Silent_p.K241K	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	295	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GGTACAGCTTCTTCAGCTTGC	0.587													29	61					0	0	0	0	T	18156743	C	T	18156743	2	4	180	1	0	0	0	0	0	0	0	1	5970	912	32	2		2	FLII	17	18156743	Silent	SNP	C	TCGA-CR-6474-01A-11D-1870-08	7862857	18156743	63038467	106	31712											
CCL15	6359	broad.mit.edu	37	chr17	34325338	34325338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacacctggcttggagcactCgctgctcgtttcaaaataac	10	10	9	12	2	1	0	1	0	0	0	3	2	1	1	1	2	3	5	1	2	3	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:34325338C>T	ENST00000354059.4	-	3	778	c.226G>A	c.(226-228)Gag>Aag	p.E76K	CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.E76K	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	76					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGGAGCACTCGCTGCTCGTT	0.522													3	41					0	0	0	0	T	34325338	C	T	34325338	3	4	180	1	0	0	0	0	1	0	0	0	2913	893	31	1	123	1	CCL15	17	34325338	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	16168595	34325338	46869872	107	31713											
THRA	7067	broad.mit.edu	37	chr17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccagggcttctttcgccGcacaatccagaagaacctcc	10	7	7	17	2	1	2	0	0	1	2	4	2	3	2	6	1	1	2	6	1	3	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:38240101G>A	ENST00000450525.2	+	5	727	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCTTTCGCCGCACAATCCAG	0.547													4	104					0	0	0	0	A	38240101	G	A	38240101	3	1	180	1	0	0	0	0	1	0	0	0	15967	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	3914763	38240101	42955109	108	31714											
ABCA10	10349	broad.mit.edu	37	chr17	67189687	67189687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttttctcttctgcccacCacttaattttttagcaataa	10	18	3	10	0	2	0	0	0	2	0	3	0	2	0	2	0	2	2	2	0	5	9			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:67189687C>A	ENST00000269081.4	-	15	2497	c.1588G>T	c.(1588-1590)Ggt>Tgt	p.G530C	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	530	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCTGCCCACCACTTAATTTT	0.299													7	13					0.000274275	0.000290409	1	0	A	67189687	C	A	67189687	3	1	180	1	0	0	0	0	1	0	0	0	29	594	21	4	3147	4	ABCA10	17	67189687	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	28949586	67189687	14005523	109	31715											
MYOM1	8736	broad.mit.edu	37	chr18	3086058	3086059	+	Frame_Shift_Ins	INS	-	-	T																															tgttataagcagggtacataINStaccatccttaaagtcatgc																										TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr18:3086058_3086059insT	ENST00000400569.3	-	30	4561_4562	c.4228_4229insA	c.(4228-4230)atgfs	p.M1410fs	MYOM1_ENST00000261606.7_Frame_Shift_Ins_p.M1314fs|MYOM1_ENST00000356443.4_Frame_Shift_Ins_p.M1410fs			P52179	MYOM1_HUMAN	myomesin 1	1410	Ig-like C2-type 4.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGGGTACATATACCATCCTTA	0.366													13	86	---	---	---	---					T	3086059	-	T	3086058	7	5	180	1	0	1	1	0	0	0	0	0	10161	449	16	0	864	0	MYOM1	18	3086058	Frame_Shift_Ins	INS	-	TCGA-CR-6474-01A-11D-1870-08		3086058	74991190	110	31716											
SETBP1	26040	broad.mit.edu	37	chr18	42530201	42530201	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagcagccacagctcacCagccccacccagcagctctg	10	3	7	21	0	2	0	1	0	1	0	2	0	2	0	6	0	6	4	6	0	1	0			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr18:42530201C>G	ENST00000282030.5	+	4	1192	c.896C>G	c.(895-897)cCa>cGa	p.P299R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	299						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACAGCTCACCAGCCCCACCC	0.572									Schinzel-Giedion syndrome				12	59					0	0	0	0	G	42530201	C	G	42530201	3	3	180	1	0	0	0	0	1	0	0	0	14216	594	21	4	1099	4	SETBP1	18	42530201	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	39444143	42530201	35547047	111	31717											
MATK	4145	broad.mit.edu	37	chr19	3779783	3779783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttttgccccaggtactcaCcctgcaggacagctgggggg	6	8	13	14	0	1	0	1	0	0	0	1	1	1	1	4	5	4	3	4	5	1	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:3779783C>T	ENST00000310132.6	-	9	1153	c.755G>A	c.(754-756)gGt>gAt	p.G252D	MATK_ENST00000585778.1_Missense_Mutation_p.G252D|MATK_ENST00000395045.2_Missense_Mutation_p.G253D|MATK_ENST00000395040.2_Missense_Mutation_p.G211D	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	252	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGTACTCACCCTGCAGGAC	0.627													8	64					0	0	0	0	T	3779783	C	T	3779783	3	4	180	1	0	0	0	0	1	0	0	0	9401	507	18	4	792	4	MATK	19	3779783	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08		3779783	55349200	112	31718											
MAP2K2	5605	broad.mit.edu	37	chr19	4110577	4110577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagcccacgatgtacggcGagttgcattcgtgcaggacc	10	7	13	11	4	0	1	0	0	0	1	1	4	0	2	2	2	4	4	2	2	2	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:4110577G>A	ENST00000262948.5	-	3	633	c.380C>T	c.(379-381)tCg>tTg	p.S127L	MAP2K2_ENST00000394867.4_Missense_Mutation_p.S30L|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	127	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGTACGGCGAGTTGCATTC	0.612													8	48					0	0	0	0	A	4110577	G	A	4110577	3	1	180	1	0	0	0	0	1	0	0	0	9306	1059	37	1	858	1	MAP2K2	19	4110577	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	330794	4110577	55018406	113	31719											
ZNF441	126068	broad.mit.edu	37	chr19	11888528	11888528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagagatgtgatgcaggaaAccatcagaaacctggactgt	15	7	11	8	0	1	3	1	1	0	2	1	6	1	5	2	2	3	1	2	2	2	0			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:11888528A>G	ENST00000357901.4	+	2	208	c.106A>G	c.(106-108)Acc>Gcc	p.T36A	ZNF441_ENST00000454339.2_5'UTR	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GATGCAGGAAACCATCAGAAA	0.423													10	45					0	0	0	0	G	11888528	A	G	11888528	3	3	180	1	0	0	0	0	1	0	0	0	18009	43	2	5	112	5	ZNF441	19	11888528	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	7777951	11888528	47240455	114	31720											
ABHD8	79575	broad.mit.edu	37	chr19	17411962	17411962	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcaatatggatggtcctcTtggggcgcctggctcgccgc	5	10	14	12	3	2	0	1	0	1	0	4	1	3	1	3	5	0	1	3	5	2	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:17411962T>C	ENST00000247706.3	-	2	703	c.464A>G	c.(463-465)aAg>aGg	p.K155R	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	155							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GATGGTCCTCTTGGGGCGCCT	0.682													13	45					0	0	0	0	C	17411962	T	C	17411962	3	2	180	1	0	0	0	0	1	0	0	0	87	1609	56	5	871	5	ABHD8	19	17411962	Missense_Mutation	SNP	T	TCGA-CR-6474-01A-11D-1870-08	5523434	17411962	41717021	115	31721											
ZNF493	284443	broad.mit.edu	37	chr19	21606158	21606158	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagacacaggagagttcatActggagagaaatcctacaaa	17	7	9	8	0	1	3	1	0	0	3	2	6	2	4	1	2	2	1	1	2	5	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:21606158A>T	ENST00000392288.2	+	4	806	c.697A>T	c.(697-699)Act>Tct	p.T233S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.T105S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAGAGTTCATACTGGAGAGAA	0.368													17	47					0	0	0	0	T	21606158	A	T	21606158	3	4	180	1	0	0	0	0	1	0	0	0	18039	391	14	5	774	5	ZNF493	19	21606158	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	4194196	21606158	37522825	116	31722											
ZNF99	7652	broad.mit.edu	37	chr19	22939994	22939994	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcttaaaagctttgccAcattcttcacatttgtatgg	10	15	7	9	0	2	0	1	0	1	0	2	1	2	0	1	1	3	3	1	1	3	6			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:22939994A>G	ENST00000397104.3	-	6	2336	c.2337T>C	c.(2335-2337)tgT>tgC	p.C779C						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGCTTTGCCACATTCTTCAC	0.373													8	65					0	0	0	0	G	22939994	A	G	22939994	2	3	180	1	0	0	0	0	0	0	0	1	18297	157	6	5		5	ZNF99	19	22939994	Silent	SNP	A	TCGA-CR-6474-01A-11D-1870-08	1333836	22939994	36188989	117	31723											
CD22	933	broad.mit.edu	37	chr19	35832025	35832025	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctcgtgggcctcccctgtCgccctgaatgtccagtgtga	4	11	12	14	2	0	2	0	2	0	0	4	2	2	2	5	1	1	1	5	1	1	0			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:35832025C>T	ENST00000085219.5	+	7	1557	c.1491C>T	c.(1489-1491)gtC>gtT	p.V497V	CD22_ENST00000419549.2_Silent_p.V325V|CD22_ENST00000536635.2_Silent_p.V409V|CD22_ENST00000594250.1_Silent_p.V320V|CD22_ENST00000270311.6_Silent_p.V377V|CD22_ENST00000341773.6_Silent_p.V320V|CD22_ENST00000544992.2_Silent_p.V497V	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	497	Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCTCCCCTGTCGCCCTGAATG	0.627													36	64					0	0	0	0	T	35832025	C	T	35832025	2	4	180	1	0	0	0	0	0	0	0	1	3014	871	31	1		1	CD22	19	35832025	Silent	SNP	C	TCGA-CR-6474-01A-11D-1870-08	12892031	35832025	23296958	118	31724											
NLRP8	126205	broad.mit.edu	37	chr19	56473581	56473581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggccgcactgaggcaccctCagtgcaaactgcaaaagcta	12	5	10	14	2	1	1	1	1	0	0	1	1	1	1	2	2	4	5	2	2	4	1			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:56473581C>G	ENST00000291971.3	+	4	2262	c.2191C>G	c.(2191-2193)Cag>Gag	p.Q731E	NLRP8_ENST00000590542.1_Missense_Mutation_p.Q731E	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	731						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGGCACCCTCAGTGCAAACT	0.478													17	68					0	0	0	0	G	56473581	C	G	56473581	3	3	180	1	0	0	0	0	1	0	0	0	10553	827	29	2	2205	2	NLRP8	19	56473581	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	20641556	56473581	2655402	119	31725											
ZIM3	114026	broad.mit.edu	37	chr19	57646638	57646638	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctctcttcccagtgtgaAttttctcatgatcgatgaca	10	14	7	10	1	2	3	1	3	2	0	6	4	3	3	1	0	1	1	1	0	2	3			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:57646638A>C	ENST00000269834.1	-	5	1452	c.1067T>G	c.(1066-1068)aTt>aGt	p.I356S		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAGTGTGAATTTTCTCATG	0.388													21	133					0	0	0	0	C	57646638	A	C	57646638	3	2	180	1	0	0	0	0	1	0	0	0	17780	101	4	5	355	5	ZIM3	19	57646638	Missense_Mutation	SNP	A	TCGA-CR-6474-01A-11D-1870-08	1173057	57646638	1482345	120	31726											
TMC2	117532	broad.mit.edu	37	chr20	2542577	2542577	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactggcccagatcctggagCaggtggaagaaaaaaagaag	17	4	13	7	0	0	3	0	0	0	3	1	5	1	5	2	4	2	1	2	4	6	0			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:2542577C>T	ENST00000358864.1	+	4	490	c.475C>T	c.(475-477)Cag>Tag	p.Q159*		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	159	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GATCCTGGAGCAGGTGGAAGA	0.627													13	70					0	0	0	0	T	2542577	C	T	2542577	4	4	180	1	0	0	0	0	0	1	0	0	16079	711	25	4	489	4	TMC2	20	2542577	Nonsense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08		2542577	60482943	121	31727											
ATRN	8455	broad.mit.edu	37	chr20	3541513	3541513	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatctttggtcactgccctCtctatggatatataagcaat	10	15	6	10	0	4	0	2	0	2	0	5	1	4	1	1	2	2	1	1	2	5	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:3541513C>G	ENST00000262919.5	+	8	1476	c.1408C>G	c.(1408-1410)Ctc>Gtc	p.L470V	ATRN_ENST00000446916.2_Missense_Mutation_p.L470V	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	470					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TCACTGCCCTCTCTATGGATA	0.418													5	66					0	0	0	0	G	3541513	C	G	3541513	3	3	180	1	0	0	0	0	1	0	0	0	1210	913	32	2	1438	2	ATRN	20	3541513	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	998936	3541513	59484007	122	31728											
PLCB1	23236	broad.mit.edu	37	chr20	8352093	8352093	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggagacacgccaaagctcCcaaggtaggaggttgagtgt	11	7	15	8	1	0	2	0	1	0	1	1	4	1	3	2	4	1	3	2	4	3	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:8352093C>G	ENST00000378641.3	+	3	717	c.242C>G	c.(241-243)cCc>cGc	p.P81R	PLCB1_ENST00000338037.6_Missense_Mutation_p.P81R|PLCB1_ENST00000378637.2_Missense_Mutation_p.P81R	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	81					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCCAAAGCTCCCAAGGTAGGA	0.458													9	51					0	0	0	0	G	8352093	C	G	8352093	3	3	180	1	0	0	0	0	1	0	0	0	12099	623	22	4	252	4	PLCB1	20	8352093	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	4810580	8352093	54673427	123	31729											
KIF16B	55614	broad.mit.edu	37	chr20	16359581	16359581	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccatgcccagggtggaGtgcctctgcagcgcagaatg	8	8	13	12	1	2	1	0	0	2	1	3	2	2	2	3	2	4	2	3	2	1	0			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:16359581G>C	ENST00000354981.2	-	19	3223	c.3066C>G	c.(3064-3066)caC>caG	p.H1022Q	KIF16B_ENST00000355755.3_Missense_Mutation_p.H1022Q|KIF16B_ENST00000408042.1_Missense_Mutation_p.H1022Q|KIF16B_ENST00000378003.2_Missense_Mutation_p.H248Q	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1022	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.H1022Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCAGGGTGGAGTGCCTCTGCA	0.597													6	106					0	0	0	0	C	16359581	G	C	16359581	3	2	180	1	0	0	0	0	1	0	0	0	8329	1020	36	4	919	4	KIF16B	20	16359581	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	8007488	16359581	46665939	124	31730											
RBM39	9584	broad.mit.edu	37	chr20	34317447	34317447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactgttaaattttggtccgGagctaaaaaggaaacacaaa	17	9	8	7	1	0	0	0	0	0	0	1	2	1	2	1	3	2	2	1	3	7	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:34317447G>A	ENST00000361162.6	-	5	683	c.299C>T	c.(298-300)tCc>tTc	p.S100F	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Intron|RBM39_ENST00000253363.6_Missense_Mutation_p.S100F	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	100					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TTTTGGTCCGGAGCTAAAAAG	0.373													4	53					0	0	0	0	A	34317447	G	A	34317447	3	1	180	1	0	0	0	0	1	0	0	0	13215	1174	41	2	1345	2	RBM39	20	34317447	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08	17957866	34317447	28708073	125	31731											
ADAMTS1	9510	broad.mit.edu	37	chr21	28216933	28216933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcggtttccggaagcGgcgtctcggacccggatttg	5	9	15	12	6	1	0	0	0	1	0	4	3	2	3	3	6	1	1	3	6	1	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr21:28216933G>A	ENST00000284984.2	-	1	795	c.341C>T	c.(340-342)cCg>cTg	p.P114L		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	114					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTCCGGAAGCGGCGTCTCGGA	0.677											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	16					0	0	0	0	A	28216933	G	A	28216933	3	1	180	1	0	0	0	0	1	0	0	0	255	1116	39	1	2598	1	ADAMTS1	21	28216933	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08		28216933	19912962	126	31732											
KRTAP10-11	386678	broad.mit.edu	37	chr21	46066855	46066855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtgctgtgtgtccacCtgctctgaggattcctcttc	3	15	10	13	0	2	1	0	1	2	0	5	2	4	2	4	1	2	2	4	1	0	2			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr21:46066855C>T	ENST00000334670.8	+	1	525	c.480C>T	c.(478-480)acC>acT	p.T160T	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	154	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GTGTGTCCACCTGCTCTGAGG	0.637													86	157					0	0	0	0	T	46066855	C	T	46066855	2	4	180	1	0	0	0	0	0	0	0	1	8559	668	24	4		4	KRTAP10-11	21	46066855	Silent	SNP	C	TCGA-CR-6474-01A-11D-1870-08	17849922	46066855	2063040	127	31733											
EFCAB6	64800	broad.mit.edu	37	chr22	43926760	43926760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagcttttgaacgtgcgccGcattggcctccagcagtgca	8	10	11	12	3	0	1	0	1	0	0	1	1	1	1	3	1	5	4	3	1	2	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr22:43926760G>A	ENST00000262726.7	-	31	4571	c.4318C>T	c.(4318-4320)Cgg>Tgg	p.R1440W	EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R1288W|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1440	EF-hand 16.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AACGTGCGCCGCATTGGCCTC	0.562													4	108					0	0	0	0	A	43926760	G	A	43926760	3	1	180	1	0	0	0	0	1	0	0	0	4975	1086	38	1	195	1	EFCAB6	22	43926760	Missense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08		43926760	7377806	128	31734											
RPS6KA6	27330	broad.mit.edu	37	chrX	83357104	83357104	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaagtccattttctcctcGaagttgttttgcaaacccaa	11	13	7	10	1	1	1	0	0	1	1	4	3	2	1	3	0	2	3	3	0	4	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chrX:83357104G>A	ENST00000262752.2	-	18	1724	c.1717C>T	c.(1717-1719)Cga>Tga	p.R573*	RPS6KA6_ENST00000495332.1_Intron|RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R573*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	573	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTTTCTCCTCGAAGTTGTTTT	0.368													15	7					0	0	0	0	A	83357104	G	A	83357104	4	1	180	1	0	0	0	0	0	1	0	0	13740	1066	37	1	540	1	RPS6KA6	23	83357104	Nonsense_Mutation	SNP	G	TCGA-CR-6474-01A-11D-1870-08		83357104	71913456	129	31735											
KLHL4	56062	broad.mit.edu	37	chrX	86890582	86890582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattatatgctattggtggaCgtgatggaagttcctgcctc	8	14	12	7	1	0	1	0	1	0	0	2	4	1	3	2	3	2	2	2	3	4	5			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chrX:86890582C>T	ENST00000373119.4	+	9	1877	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	KLHL4_ENST00000373114.4_Missense_Mutation_p.R578C	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	578						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TATTGGTGGACGTGATGGAAG	0.398													11	12					0	0	0	0	T	86890582	C	T	86890582	3	4	180	1	0	0	0	0	1	0	0	0	8443	536	19	1	1766	1	KLHL4	23	86890582	Missense_Mutation	SNP	C	TCGA-CR-6474-01A-11D-1870-08	3533478	86890582	68379978	130	31736											
TRPC5	7224	broad.mit.edu	37	chrX	111078215	111078215	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcactaccagggagatGacattgtatgttccaaacat	14	9	9	9	0	0	2	0	1	0	1	1	3	1	2	2	1	4	4	2	1	3	4			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chrX:111078215G>T	ENST00000262839.2	-	7	2748	c.1830C>A	c.(1828-1830)gtC>gtA	p.V610V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	610					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCAGGGAGATGACATTGTATG	0.423													5	228					0.217242	0.221341	1	0	T	111078215	G	T	111078215	2	4	180	1	0	0	0	0	0	0	0	1	16677	1277	45	2		2	TRPC5	23	111078215	Silent	SNP	G	TCGA-CR-6474-01A-11D-1870-08	24187633	111078215	44192345	131	31737											
SAMD11	148398	broad.mit.edu	37	chr1	861349	861349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggggatcctgcaggtgcatCctccgatctgcgactgcccg	6	8	13	14	3	1	0	0	0	1	0	4	3	4	1	4	3	4	2	4	3	0	0			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:861349C>A	ENST00000342066.3	+	2	111	c.28C>A	c.(28-30)Cct>Act	p.P10T	AL645608.1_ENST00000598827.1_Missense_Mutation_p.G84V	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	10						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCAGGTGCATCCTCCGATCTG	0.647													7	73					0.000274275	0.000286411	1	0	A	861349	C	A	861349	3	1	181	1	0	0	0	0	1	0	0	0	13901	855	30	2	30	2	SAMD11	1	861349	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08		861349	248389272	1	31738											
TNFRSF4	7293	broad.mit.edu	37	chr1	1149108	1149108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtcgttgtagaagcccggcCcgcacggacggcacaccgtg	7	5	14	15	7	0	1	0	0	0	1	1	2	0	2	3	3	1	4	3	3	2	2			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:1149108C>T	ENST00000379236.3	-	2	207	c.203G>A	c.(202-204)gGg>gAg	p.G68E		NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	68					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAGCCCGGCCCGCACGGACG	0.692													3	7					0	0	0	0	T	1149108	C	T	1149108	3	4	181	1	0	0	0	0	1	0	0	0	16391	623	22	4	654	4	TNFRSF4	1	1149108	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	287759	1149108	248101513	2	31739											
PRAMEF17	391004	broad.mit.edu	37	chr1	13716862	13716862	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatttctggactatatggTctggagccagggccctctcc	7	11	12	11	0	3	0	0	0	3	0	4	3	3	3	3	5	1	0	3	5	3	3			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:13716862T>G	ENST00000376098.4	+	2	375	c.349T>G	c.(349-351)Tct>Gct	p.S117A		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	117										kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACTATATGGTCTGGAGCCAG	0.527													21	123					0	0	0	0	G	13716862	T	G	13716862	3	3	181	1	0	0	0	0	1	0	0	0	12509	1667	58	5	355	5	PRAMEF17	1	13716862	Missense_Mutation	SNP	T	TCGA-CR-6477-01A-11D-1870-08	12567754	13716862	235533759	3	31740											
HTR6	3362	broad.mit.edu	37	chr1	19992722	19992722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgccgctctcgcctcctTcctgcccctgctgctgggct	0	11	9	21	3	1	0	0	0	1	0	5	0	3	0	7	1	3	4	7	1	0	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:19992722T>C	ENST00000289753.1	+	1	943	c.476T>C	c.(475-477)tTc>tCc	p.F159S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	159					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CTCGCCTCCTTCCTGCCCCTG	0.716													6	39					0	0	0	0	C	19992722	T	C	19992722	3	2	181	1	0	0	0	0	1	0	0	0	7504	1783	62	5	478	5	HTR6	1	19992722	Missense_Mutation	SNP	T	TCGA-CR-6477-01A-11D-1870-08	6275860	19992722	229257899	4	31741											
C1orf172	126695	broad.mit.edu	37	chr1	27278782	27278783	+	Frame_Shift_Del	DEL	AT	AT	-																															gggggctgaggtggtttatcAtatgtctccagacatagctc																										TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:27278782_27278783delAT	ENST00000320567.5	-	2	177_178	c.89_90delAT	c.(88-90)tfs	p.Y30fs		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	30	Pro-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGTTTATCATATGTCTCCAG	0.629													37	54	---	---	---	---					-	27278783	AT	-	27278782	7	5	181	1	0	1	0	1	0	0	0	0	2032	224	8	0	1118	0	C1orf172	1	27278782	Frame_Shift_Del	DEL	AT	TCGA-CR-6477-01A-11D-1870-08	7286060	27278782	221971839	5	31742											
CYP4A11	1579	broad.mit.edu	37	chr1	47407103	47407103	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctcagcacagagacactCatggtgcagcacctgctgga	10	6	13	12	0	2	1	2	0	0	1	2	3	2	2	1	3	4	5	1	3	0	0			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:47407103C>T	ENST00000310638.4	-	1	34	c.3G>A	c.(1-3)atG>atA	p.M1I	CYP4A11_ENST00000371904.4_Start_Codon_SNP_p.M1I|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371905.1_Start_Codon_SNP_p.M1I	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	1					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CAGAGACACTCATGGTGCAGC	0.597													13	91					0	0	0	0	T	47407103	C	T	47407103	1	4	181	1	0	0	0	0	0	0	0	0	4215	826	29	2		2	CYP4A11	1	47407103	Translation_Start_Site	SNP	C	TCGA-CR-6477-01A-11D-1870-08	20128321	47407103	201843518	6	31743											
C1orf87	127795	broad.mit.edu	37	chr1	60505607	60505607	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatttcaggagaacccctCttagaaaatctctgacaaag	15	9	6	11	0	3	3	1	1	2	2	4	4	3	3	3	1	1	0	3	1	5	2			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:60505607C>T	ENST00000371201.3	-	5	836	c.729G>A	c.(727-729)aaG>aaA	p.K243K	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	243							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGAACCCCTCTTAGAAAATC	0.408													17	327					0	0	0	0	T	60505607	C	T	60505607	2	4	181	1	0	0	0	0	0	0	0	1	2084	912	32	2		2	C1orf87	1	60505607	Silent	SNP	C	TCGA-CR-6477-01A-11D-1870-08	13098504	60505607	188745014	7	31744											
ROR1	4919	broad.mit.edu	37	chr1	64608106	64608106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatcacaagtgttataacaGcacaggtgtggactaccggg	13	8	12	8	1	1	1	1	0	0	1	1	2	1	2	1	3	3	2	1	3	4	3			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:64608106G>A	ENST00000371079.1	+	7	1322	c.947G>A	c.(946-948)aGc>aAc	p.S316N	ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Missense_Mutation_p.S316N	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	316	Kringle.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TGTTATAACAGCACAGGTGTG	0.502													3	76					0	0	0	0	A	64608106	G	A	64608106	3	1	181	1	0	0	0	0	1	0	0	0	13611	971	34	4	973	4	ROR1	1	64608106	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	4102499	64608106	184642515	8	31745											
LRRC8B	23507	broad.mit.edu	37	chr1	90048267	90048267	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagtcatcttatcacatcTtaaaaccatggtgggacgtc	11	11	7	12	1	4	0	2	0	2	0	5	1	4	1	2	2	1	0	2	2	3	2			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:90048267T>A	ENST00000330947.2	+	5	418	c.58T>A	c.(58-60)Tta>Ata	p.L20I	LRRC8B_ENST00000439853.1_Missense_Mutation_p.L20I|LRRC8B_ENST00000358200.4_Missense_Mutation_p.L20I	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	20						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TTATCACATCTTAAAACCATG	0.483													13	117					0	0	0	0	A	90048267	T	A	90048267	3	1	181	1	0	0	0	0	1	0	0	0	9086	1606	56	5	60	5	LRRC8B	1	90048267	Missense_Mutation	SNP	T	TCGA-CR-6477-01A-11D-1870-08	25440161	90048267	159202354	9	31746											
COL11A1	1301	broad.mit.edu	37	chr1	103496741	103496741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacagtctggactataatgCtcacagtagtcatatgctgc	11	12	8	10	0	4	0	3	0	1	0	4	1	4	1	0	1	3	3	0	1	4	4			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:103496741C>G	ENST00000358392.2	-	5	1028	c.711G>C	c.(709-711)gaG>gaC	p.E237D	COL11A1_ENST00000370096.3_Missense_Mutation_p.E237D|COL11A1_ENST00000353414.4_Missense_Mutation_p.E237D|COL11A1_ENST00000512756.1_Missense_Mutation_p.E237D	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	237	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GACTATAATGCTCACAGTAGT	0.458													8	25					0	0	0	0	G	103496741	C	G	103496741	3	3	181	1	0	0	0	0	1	0	0	0	3697	796	28	4	5118	4	COL11A1	1	103496741	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	13448474	103496741	145753880	10	31747											
TRIM46	80128	broad.mit.edu	37	chr1	155148051	155148051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcctgcctccacccctTccacccgcagcccccgcctc	3	7	4	27	2	1	0	0	0	1	0	5	0	3	0	11	0	2	1	11	0	0	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:155148051T>C	ENST00000392451.2	+	2	336	c.253T>C	c.(253-255)Tcc>Ccc	p.S85P	TRIM46_ENST00000368382.1_Missense_Mutation_p.S62P|TRIM46_ENST00000368383.3_Missense_Mutation_p.S85P|TRIM46_ENST00000368385.4_Missense_Mutation_p.S85P|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000543729.1_Missense_Mutation_p.S92P|TRIM46_ENST00000334634.4_Missense_Mutation_p.S85P|TRIM46_ENST00000468878.1_3'UTR			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	85						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCCACCCCTTCCACCCGCAG	0.682													4	59					0	0	0	0	C	155148051	T	C	155148051	3	2	181	1	0	0	0	0	1	0	0	0	16616	1783	62	5	259	5	TRIM46	1	155148051	Missense_Mutation	SNP	T	TCGA-CR-6477-01A-11D-1870-08	51651310	155148051	94102570	11	31748											
ASPM	259266	broad.mit.edu	37	chr1	197070787	197070787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaataaccacagcagaatGccattgtctgatataatttt	14	13	6	8	0	1	3	0	2	1	1	1	3	1	3	2	0	3	1	2	0	5	6			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:197070787G>A	ENST00000367409.4	-	18	7850	c.7594C>T	c.(7594-7596)Cat>Tat	p.H2532Y	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2532	IQ 27.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACAGCAGAATGCCATTGTCTG	0.343													14	94					0	0	0	0	A	197070787	G	A	197070787	3	1	181	1	0	0	0	0	1	0	0	0	1060	1319	46	4	2883	4	ASPM	1	197070787	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	41922736	197070787	52179834	12	31749											
NR5A2	2494	broad.mit.edu	37	chr1	200017505	200017505	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactctgcctccaaaggcctAcctctgaaccatgctgcctt	8	10	6	17	0	2	1	0	1	2	0	3	1	3	1	6	1	5	1	6	1	3	2			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:200017505A>G	ENST00000367362.3	+	5	915	c.669A>G	c.(667-669)ctA>ctG	p.L223L	NR5A2_ENST00000544748.1_Silent_p.L151L|NR5A2_ENST00000236914.3_Silent_p.L177L	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	223					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCAAAGGCCTACCTCTGAACC	0.512													19	112					0	0	0	0	G	200017505	A	G	200017505	2	3	181	1	0	0	0	0	0	0	0	1	10707	378	14	5		5	NR5A2	1	200017505	Silent	SNP	A	TCGA-CR-6477-01A-11D-1870-08	2946718	200017505	49233116	13	31750											
SLC1A4	6509	broad.mit.edu	37	chr2	65245373	65245373	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caactcaacaacgtagagctCaacgcaggacagattttcac	15	7	7	12	2	3	2	3	0	0	2	3	3	3	3	0	1	5	3	0	1	5	3			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:65245373C>G	ENST00000234256.3	+	6	1446	c.1203C>G	c.(1201-1203)ctC>ctG	p.L401L	SLC1A4_ENST00000531327.1_Silent_p.L103L	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	401					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	ACGTAGAGCTCAACGCAGGAC	0.488													7	64					0	0	0	0	G	65245373	C	G	65245373	2	3	181	1	0	0	0	0	0	0	0	1	14522	813	29	2		2	SLC1A4	2	65245373	Silent	SNP	C	TCGA-CR-6477-01A-11D-1870-08		65245373	177954000	14	31751											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459945	107459945	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggacctgtgcagccggAaaagccccctcccgtgggcc	6	6	12	17	2	1	0	0	0	1	0	2	2	2	2	6	3	3	1	6	3	2	0			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:107459945A>C	ENST00000409382.3	-	2	1099	c.489T>G	c.(487-489)ttT>ttG	p.F163L	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.F163L|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.F163L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	163					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						GTGCAGCCGGAAAAGCCCCCT	0.642													19	174					0	0	0	0	C	107459945	A	C	107459945	3	2	181	1	0	0	0	0	1	0	0	0	15312	243	9	5	1207	5	ST6GAL2	2	107459945	Missense_Mutation	SNP	A	TCGA-CR-6477-01A-11D-1870-08	42214572	107459945	135739428	15	31752											
LCT	3938	broad.mit.edu	37	chr2	136566025	136566025	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacacacctttcaaagcctCattgatgtaggttttgtggt	9	15	8	9	0	3	1	3	1	0	0	3	1	3	1	2	2	1	2	2	2	2	5			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:136566025C>G	ENST00000264162.2	-	8	3902	c.3892G>C	c.(3892-3894)Gag>Cag	p.E1298Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1298	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.E1298Q(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTCAAAGCCTCATTGATGTAG	0.443													25	230					0	0	0	0	G	136566025	C	G	136566025	3	3	181	1	0	0	0	0	1	0	0	0	8746	835	29	2	1931	2	LCT	2	136566025	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	29106080	136566025	106633348	16	31753											
ACVR1	90	broad.mit.edu	37	chr2	158636996	158636996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctggtagacgtggaagcCatcgttgatgctcagtgagg	8	12	14	7	2	2	3	1	2	1	1	3	4	2	4	1	3	2	3	1	3	2	3			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:158636996C>T	ENST00000263640.3	-	4	613	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	ACVR1_ENST00000487456.1_5'UTR|ACVR1_ENST00000434821.1_Missense_Mutation_p.G62S|ACVR1_ENST00000409283.2_Missense_Mutation_p.G62S|ACVR1_ENST00000410057.2_Missense_Mutation_p.G62S	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	62					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	ACGTGGAAGCCATCGTTGATG	0.552													19	156					0	0	0	0	T	158636996	C	T	158636996	3	4	181	1	0	0	0	0	1	0	0	0	220	594	21	4	1377	4	ACVR1	2	158636996	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	22070971	158636996	84562377	17	31754											
KCNH7	90134	broad.mit.edu	37	chr2	163302670	163302670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgatttacatatgttgttCtgaagtttattaaaatatct	12	20	5	4	0	3	2	0	2	3	0	3	2	3	2	0	0	1	3	0	0	7	9			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:163302670C>T	ENST00000332142.5	-	7	1511	c.1412G>A	c.(1411-1413)aGa>aAa	p.R471K	KCNH7_ENST00000328032.4_Missense_Mutation_p.R464K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	471					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATATGTTGTTCTGAAGTTTAT	0.363													4	38					0	0	0	0	T	163302670	C	T	163302670	3	4	181	1	0	0	0	0	1	0	0	0	8090	913	32	2	2284	2	KCNH7	2	163302670	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	4665674	163302670	79896703	18	31755											
HOXD10	3236	broad.mit.edu	37	chr2	176982013	176982013	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggttcccgtccctggatAttttagactgagtcagacct	8	13	10	10	1	1	4	1	2	0	2	3	5	3	5	3	2	0	1	3	2	2	4			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:176982013A>G	ENST00000249501.4	+	1	707	c.452A>G	c.(451-453)tAt>tGt	p.Y151C	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	151						nucleus	sequence-specific DNA binding	p.Y151C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GTCCCTGGATATTTTAGACTG	0.552													413	142					0	0	0	0	G	176982013	A	G	176982013	3	3	181	1	0	0	0	0	1	0	0	0	7369	449	16	5	454	5	HOXD10	2	176982013	Missense_Mutation	SNP	A	TCGA-CR-6477-01A-11D-1870-08	13679343	176982013	66217360	19	31756											
TTN	7273	broad.mit.edu	37	chr2	179586740	179586740	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacggatctccttgttatcTtttgaccaagtgattcgcat	8	15	9	9	2	2	2	0	2	2	0	4	4	2	4	2	2	0	2	2	2	2	5			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:179586740T>C	ENST00000589042.1	-	78	22874	c.22650A>G	c.(22648-22650)aaA>aaG	p.K7550K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.K7233K|TTN_ENST00000342992.6_Silent_p.K6306K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7233	Ig-like 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K6306N(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)			CCTTGTTATCTTTTGACCAAG	0.418													23	224					0	0	0	0	C	179586740	T	C	179586740	2	2	181	1	0	0	0	0	0	0	0	1	16831	1606	56	5		5	TTN	2	179586740	Silent	SNP	T	TCGA-CR-6477-01A-11D-1870-08	2604727	179586740	63612633	20	31757											
ANKAR	150709	broad.mit.edu	37	chr2	190592581	190592581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttcttaaattcatttgaaGatgtgttgaaggctgtatct	10	18	9	4	0	3	3	1	2	2	1	3	3	3	3	0	1	0	4	0	1	5	6			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:190592581G>A	ENST00000281412.6	+	12	2708	c.1960G>A	c.(1960-1962)Gat>Aat	p.D654N	ANKAR_ENST00000438402.2_Splice_Site|ANKAR_ENST00000520309.1_Splice_Site|ANKAR_ENST00000313581.4_Splice_Site|ANKAR_ENST00000431575.2_Splice_Site			Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	879						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TTCATTTGAAGATGTGTTGAA	0.343													11	45					0	0	0	0	A	190592581	G	A	190592581	3	1	181	1	0	0	0	0	1	0	0	0	623	956	33	2	2681	2	ANKAR	2	190592581	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	11005841	190592581	52606792	21	31758											
CUL3	8452	broad.mit.edu	37	chr2	225376094	225376094	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctttccatttttcaacAtatgtactagcccagaattc	10	16	4	11	0	2	1	1	0	1	1	4	1	3	1	2	0	3	1	2	0	5	7			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:225376094A>C	ENST00000264414.4	-	6	1198	c.860T>G	c.(859-861)aTg>aGg	p.M287R	CUL3_ENST00000344951.4_Missense_Mutation_p.M221R|CUL3_ENST00000409096.1_Missense_Mutation_p.M263R|CUL3_ENST00000409777.1_Missense_Mutation_p.M263R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	287					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATTTTTCAACATATGTACTAG	0.323													21	123					0	0	0	0	C	225376094	A	C	225376094	3	2	181	1	0	0	0	0	1	0	0	0	4088	217	8	5	1490	5	CUL3	2	225376094	Missense_Mutation	SNP	A	TCGA-CR-6477-01A-11D-1870-08	34783513	225376094	17823279	22	31759											
CNTN6	27255	broad.mit.edu	37	chr3	1320176	1320176	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgcttctctgtggcccAccgccacattttggaggtat	5	13	12	11	1	1	0	0	0	1	0	2	1	1	1	3	4	1	2	3	4	1	4			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:1320176A>G	ENST00000446702.2	+	5	1065	c.438A>G	c.(436-438)ccA>ccG	p.P146P	CNTN6_ENST00000539053.1_Silent_p.P74P|CNTN6_ENST00000350110.2_Silent_p.P146P			Q9UQ52	CNTN6_HUMAN	contactin 6	146	Ig-like C2-type 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCTGTGGCCCACCGCCACATT	0.453													10	74					0	0	0	0	G	1320176	A	G	1320176	2	3	181	1	0	0	0	0	0	0	0	1	3675	146	6	5		5	CNTN6	3	1320176	Silent	SNP	A	TCGA-CR-6477-01A-11D-1870-08		1320176	196702254	23	31760											
SATB1	6304	broad.mit.edu	37	chr3	18391087	18391087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggttgccgtggggggagccGagggcctgtctgtggctgct	2	9	21	9	2	1	0	0	0	1	0	1	2	1	1	3	6	3	3	3	6	0	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:18391087G>A	ENST00000338745.6	-	11	3601	c.1867C>T	c.(1867-1869)Cgg>Tgg	p.R623W	SATB1_ENST00000454909.2_Missense_Mutation_p.R623W|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.R655W	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	623					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGGGGGAGCCGAGGGCCTGTC	0.602													10	38					0	0	0	0	A	18391087	G	A	18391087	3	1	181	1	0	0	0	0	1	0	0	0	13939	1057	37	1	428	1	SATB1	3	18391087	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	17070911	18391087	179631343	24	31761											
LRRC3B	116135	broad.mit.edu	37	chr3	26751571	26751571	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaatgccttcaataacctGaaggccagggccagaattgc	15	7	9	10	0	1	2	1	1	0	1	1	2	1	2	4	2	3	0	4	2	6	3			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:26751571G>A	ENST00000396641.2	+	2	1000	c.408G>A	c.(406-408)ctG>ctA	p.L136L	LRRC3B_ENST00000417744.1_Silent_p.L136L|LRRC3B_ENST00000456208.2_Silent_p.L136L	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	136						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TCAATAACCTGAAGGCCAGGG	0.507													23	31					0	0	0	0	A	26751571	G	A	26751571	2	1	181	1	0	0	0	0	0	0	0	1	9060	1277	45	2		2	LRRC3B	3	26751571	Silent	SNP	G	TCGA-CR-6477-01A-11D-1870-08	8360484	26751571	171270859	25	31762											
ZCWPW2	152098	broad.mit.edu	37	chr3	28562601	28562601	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggaaataaatatgggAgaaaaggtaatattgatagt	19	9	13	0	0	0	3	0	1	0	2	0	6	0	4	0	4	0	1	0	4	9	6			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:28562601A>G	ENST00000383768.2	+	9	1091	c.903A>G	c.(901-903)ggA>ggG	p.G301G	ZCWPW2_ENST00000421010.1_Silent_p.G301G			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	301							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TAAATATGGGAGAAAAGGTAA	0.338													10	20					0	0	0	0	G	28562601	A	G	28562601	2	3	181	1	0	0	0	0	0	0	0	1	17693	291	11	5		5	ZCWPW2	3	28562601	Silent	SNP	A	TCGA-CR-6477-01A-11D-1870-08	1811030	28562601	169459829	26	31763											
SCN10A	6336	broad.mit.edu	37	chr3	38760236	38760236	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcagcatctcgaacacaaAgataaaggtgaagaccctgt	17	6	9	9	1	1	3	0	1	1	2	2	4	1	3	1	1	3	2	1	1	6	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:38760236A>C	ENST00000449082.2	-	20	3588	c.3589T>G	c.(3589-3591)Ttt>Gtt	p.F1197V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1197					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCGAACACAAAGATAAAGGTG	0.488													7	71					0	0	0	0	C	38760236	A	C	38760236	3	2	181	1	0	0	0	0	1	0	0	0	13999	72	3	5	2313	5	SCN10A	3	38760236	Missense_Mutation	SNP	A	TCGA-CR-6477-01A-11D-1870-08	10197635	38760236	159262194	27	31764											
CDCP1	64866	broad.mit.edu	37	chr3	45160021	45160021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatgtcttttagaaatgaCgatgtaacagggttttgcca	12	15	9	5	1	1	2	0	1	1	1	1	3	1	2	1	1	2	2	1	1	5	7			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:45160021C>T	ENST00000296129.1	-	2	309	c.175G>A	c.(175-177)Gtc>Atc	p.V59I	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.V59I	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	59						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTAGAAATGACGATGTAACAG	0.428													4	94					0	0	0	0	T	45160021	C	T	45160021	3	4	181	1	0	0	0	0	1	0	0	0	3122	536	19	1	2375	1	CDCP1	3	45160021	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	6399785	45160021	152862409	28	31765											
DHX30	22907	broad.mit.edu	37	chr3	47888975	47888975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatcaaaggagtgcagcagCgcctccaggaggccctgggc	10	4	15	12	1	1	1	1	0	0	1	2	3	2	3	3	4	3	2	3	4	1	0			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:47888975C>T	ENST00000446256.2	+	14	2514	c.1942C>T	c.(1942-1944)Cgc>Tgc	p.R648C	DHX30_ENST00000457607.1_Missense_Mutation_p.R715C|DHX30_ENST00000445061.1_Missense_Mutation_p.R687C|DHX30_ENST00000348968.4_Missense_Mutation_p.R659C	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	687						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTGCAGCAGCGCCTCCAGGA	0.632													7	20					0	0	0	0	T	47888975	C	T	47888975	3	4	181	1	0	0	0	0	1	0	0	0	4541	768	27	1	2112	1	DHX30	3	47888975	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	2728954	47888975	150133455	29	31766											
EPHA3	2042	broad.mit.edu	37	chr3	89390112	89390112	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatggtaatatgaagtgTgctaagtgcccgcctcacag	10	11	12	8	1	1	1	1	1	0	0	1	2	1	2	2	2	2	2	2	2	4	4			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:89390112T>G	ENST00000336596.2	+	4	1086	c.861T>G	c.(859-861)tgT>tgG	p.C287W	EPHA3_ENST00000494014.1_Missense_Mutation_p.C287W|EPHA3_ENST00000452448.2_Missense_Mutation_p.C287W	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	287	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATATGAAGTGTGCTAAGTGCC	0.408										TSP Lung(6;0.00050)			13	127					0	0	0	0	G	89390112	T	G	89390112	3	3	181	1	0	0	0	0	1	0	0	0	5206	1702	59	5	875	5	EPHA3	3	89390112	Missense_Mutation	SNP	T	TCGA-CR-6477-01A-11D-1870-08	41501137	89390112	108632318	30	31767											
TET2	54790	broad.mit.edu	37	chr4	106158042	106158042	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcagatgcacaggccaatTaaggtggaacctggatgcaa	14	7	12	8	0	1	1	1	0	0	1	1	3	1	3	2	4	3	2	2	4	4	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr4:106158042T>A	ENST00000513237.1	+	3	3803	c.3006T>A	c.(3004-3006)atT>atA	p.I1002I	TET2_ENST00000380013.4_Silent_p.I981I|TET2_ENST00000545826.1_Silent_p.I981I|TET2_ENST00000540549.1_Silent_p.I981I|TET2_ENST00000305737.2_Silent_p.I981I|TET2_ENST00000413648.2_Silent_p.I981I|TET2_ENST00000394764.1_Silent_p.I981I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	981					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACAGGCCAATTAAGGTGGAAC	0.473			"Mis N, F"		MDS								18	47					0	0	0	0	A	106158042	T	A	106158042	2	1	181	1	0	0	0	0	0	0	0	1	15864	1742	61	5		5	TET2	4	106158042	Silent	SNP	T	TCGA-CR-6477-01A-11D-1870-08		106158042	84996234	31	31768											
FAT1	2195	broad.mit.edu	37	chr4	187540779	187540779	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgattcccaaacatctGgtatgagattcctctatttg	9	15	8	9	0	2	2	0	2	2	1	4	3	4	2	2	1	1	2	2	1	3	5			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr4:187540779G>A	ENST00000441802.2	-	10	7170	c.6961C>T	c.(6961-6963)Cag>Tag	p.Q2321*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2321	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.Q2321*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCAAACATCTGGTATGAGATT	0.463										HNSCC(5;0.00058)			37	96					0	0	0	0	A	187540779	G	A	187540779	4	1	181	1	0	0	0	0	0	1	0	0	5734	1357	47	4	6877	4	FAT1	4	187540779	Nonsense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	81382737	187540779	3613497	32	31769											
DNAH5	1767	broad.mit.edu	37	chr5	13721156	13721156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgagcatggacttcctggcCctggcccatggacacataac	9	7	10	15	1	0	0	0	0	0	0	1	3	1	2	4	4	2	1	4	4	1	2			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:13721156C>A	ENST00000265104.4	-	71	12336	c.12232G>T	c.(12232-12234)Ggc>Tgc	p.G4078C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4078	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTTCCTGGCCCTGGCCCATG	0.483									Kartagener syndrome				17	116					5.01169e-05	5.28018e-05	1	0	A	13721156	C	A	13721156	3	1	181	1	0	0	0	0	1	0	0	0	4641	623	22	4	1678	4	DNAH5	5	13721156	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08		13721156	167194104	33	31770											
MTMR12	54545	broad.mit.edu	37	chr5	32276834	32276834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgttacttccttttcGtttgtgtgaatttcctaaaa	7	21	5	8	1	1	1	0	1	1	0	5	1	3	1	2	0	1	2	2	0	4	8			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:32276834G>T	ENST00000382142.3	-	2	266	c.96C>A	c.(94-96)aaC>aaA	p.N32K	MTMR12_ENST00000264934.5_Missense_Mutation_p.N32K|MTMR12_ENST00000280285.5_Missense_Mutation_p.N32K	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	32						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTTCCTTTTCGTTTGTGTGAA	0.343													3	53					0.00909568	0.00941483	1	0	T	32276834	G	T	32276834	3	4	181	1	0	0	0	0	1	0	0	0	10011	1136	40	3	2207	3	MTMR12	5	32276834	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	18555678	32276834	148638426	34	31771											
MRPS30	10884	broad.mit.edu	37	chr5	44815046	44815046	+	Frame_Shift_Del	DEL	T	T	-																															gaagcagatgttactcgaccTtttgtctcccaggctgtgat																										TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:44815046delT	ENST00000507110.1	+	5	1100	c.1062delT	c.(1060-1062)ccfs	p.P354fs		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	354					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TTACTCGACCTTTTGTCTCCC	0.373													7	396	---	---	---	---					-	44815046	T	-	44815046	7	5	181	1	0	1	0	1	0	0	0	0	9910	1596	56	0	1080	0	MRPS30	5	44815046	Frame_Shift_Del	DEL	T	TCGA-CR-6477-01A-11D-1870-08	12538212	44815046	136100214	35	31772											
F2RL2	2151	broad.mit.edu	37	chr5	75914422	75914422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagctccacgaaaggtcttaAtgggtaaggttggctttgcc	9	11	13	8	1	1	0	0	0	1	0	2	2	2	0	2	4	2	4	2	4	3	4			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:75914422A>G	ENST00000296641.4	-	2	313	c.110T>C	c.(109-111)aTt>aCt	p.I37T	F2RL2_ENST00000504899.1_Missense_Mutation_p.I15T|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	37					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAAGGTCTTAATGGGTAAGGT	0.393													3	118					0	0	0	0	G	75914422	A	G	75914422	3	3	181	1	0	0	0	0	1	0	0	0	5383	101	4	5	1018	5	F2RL2	5	75914422	Missense_Mutation	SNP	A	TCGA-CR-6477-01A-11D-1870-08	31099376	75914422	105000838	36	31773											
GPR98	84059	broad.mit.edu	37	chr5	89941887	89941887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgaggattagaagaaatGatgaccccatttattttgca	13	13	8	7	0	1	5	0	3	1	2	1	6	1	6	2	1	1	1	2	1	4	5			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:89941887G>A	ENST00000405460.2	+	16	3097	c.3001G>A	c.(3001-3003)Gat>Aat	p.D1001N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1001					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGAAGAAATGATGACCCCAT	0.343													5	7					0	0	0	0	A	89941887	G	A	89941887	3	1	181	1	0	0	0	0	1	0	0	0	6771	1290	45	2	3063	2	GPR98	5	89941887	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	14027465	89941887	90973373	37	31774											
FAT2	2196	broad.mit.edu	37	chr5	150925423	150925423	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgactttaagaacataggAgcattgtcattttcatcaat	13	15	7	6	0	3	2	3	1	0	1	3	3	3	3	0	1	2	2	0	1	4	7			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:150925423A>G	ENST00000261800.5	-	9	5277	c.5265T>C	c.(5263-5265)gcT>gcC	p.A1755A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1755	Cadherin 15.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAACATAGGAGCATTGTCAT	0.403													24	113					0	0	0	0	G	150925423	A	G	150925423	2	3	181	1	0	0	0	0	0	0	0	1	5735	291	11	5		5	FAT2	5	150925423	Silent	SNP	A	TCGA-CR-6477-01A-11D-1870-08	60983536	150925423	29989837	38	31775											
ITPR3	3710	broad.mit.edu	37	chr6	33636910	33636910	+	Frame_Shift_Del	DEL	C	C	-																															cgggccggcaacgcccacgaCgagaatgtgctcagctacta																								rs138892441		TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:33636910delC	ENST00000374316.5	+	19	3226	c.2166delC	c.(2164-2166)gafs	p.D722fs	ITPR3_ENST00000605930.1_Frame_Shift_Del_p.D722fs			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	722					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACGCCCACGACGAGAATGTGC	0.607													7	79	---	---	---	---					-	33636910	C	-	33636910	7	5	181	1	0	1	0	1	0	0	0	0	7975	535	19	0	2236	0	ITPR3	6	33636910	Frame_Shift_Del	DEL	C	TCGA-CR-6477-01A-11D-1870-08		33636910	137478157	39	31776											
MAPK14	1432	broad.mit.edu	37	chr6	36070426	36070426	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttattggtgccaatcccctgGgtaagttgaccatatatcct	9	14	8	10	0	0	1	0	1	0	0	2	1	2	1	5	2	1	2	5	2	5	6			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:36070426G>T	ENST00000229795.3	+	10	1288	c.841_splice	c.e10+1	p.A281_splice	MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000468133.1_Splice_Site_p.A204_splice|MAPK14_ENST00000229794.4_Splice_Site_p.A281_splice	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	281	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						CAATCCCCTGGGTAAGTTGAC	0.373													23	75					3.6726e-16	4.12731e-16	1	0	T	36070426	G	T	36070426	5	4	181	1	0	0	0	0	0	0	1	0	9345	1246	43	4	963	4	MAPK14	6	36070426	Splice_Site	SNP	G	TCGA-CR-6477-01A-11D-1870-08	2433516	36070426	135044641	40	31777											
DST	667	broad.mit.edu	37	chr6	56494141	56494141	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcaaggtcccgttctttaTacgttttaaacatttcatca	12	16	4	9	2	4	0	3	0	1	0	5	0	5	0	1	1	2	2	1	1	6	7			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:56494141T>C	ENST00000370754.5	-	31	4282	c.4283A>G	c.(4282-4284)tAt>tGt	p.Y1428C	DST_ENST00000312431.6_Missense_Mutation_p.Y1250C|DST_ENST00000370765.6_Missense_Mutation_p.Y924C|DST_ENST00000518935.1_Missense_Mutation_p.Y924C|DST_ENST00000244364.6_Missense_Mutation_p.Y924C|DST_ENST00000370769.4_Missense_Mutation_p.Y1250C|DST_ENST00000421834.2_Missense_Mutation_p.Y1250C|DST_ENST00000446842.2_Missense_Mutation_p.Y924C|DST_ENST00000370788.2_Missense_Mutation_p.Y1250C|DST_ENST00000361203.3_Missense_Mutation_p.Y1250C			Q03001	DYST_HUMAN	dystonin	1250					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCGTTCTTTATACGTTTTAAA	0.383													31	67					0	0	0	0	C	56494141	T	C	56494141	3	2	181	1	0	0	0	0	1	0	0	0	4819	1406	49	5	17652	5	DST	6	56494141	Missense_Mutation	SNP	T	TCGA-CR-6477-01A-11D-1870-08	20423715	56494141	114620926	41	31778											
SYNE1	23345	broad.mit.edu	37	chr6	152831446	152831446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctaactatgctgtccaCggaggatgcgctgctggaca	10	8	13	10	2	0	1	0	0	0	1	1	4	1	4	1	3	5	4	1	3	2	2			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:152831446C>T	ENST00000367255.5	-	8	1064	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	SYNE1_ENST00000466159.2_Missense_Mutation_p.V155M|SYNE1_ENST00000448038.1_Missense_Mutation_p.V162M|SYNE1_ENST00000413186.2_Missense_Mutation_p.V155M|SYNE1_ENST00000423061.1_Missense_Mutation_p.V162M|SYNE1_ENST00000367253.4_Missense_Mutation_p.V155M|SYNE1_ENST00000265368.4_Missense_Mutation_p.V155M|SYNE1_ENST00000367248.3_Missense_Mutation_p.V162M|SYNE1_ENST00000341594.5_Missense_Mutation_p.V155M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	155	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGCTGTCCACGGAGGATGCG	0.473										HNSCC(10;0.0054)			4	67					0	0	0	0	T	152831446	C	T	152831446	3	4	181	1	0	0	0	0	1	0	0	0	15536	536	19	1	26559	1	SYNE1	6	152831446	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	96337305	152831446	18283621	42	31779											
CNKSR3	154043	broad.mit.edu	37	chr6	154763230	154763230	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctccaacttaccggtccagCcacgccagcagggccttggc	7	7	10	17	2	1	0	0	0	1	0	3	0	2	0	6	3	4	1	6	3	2	2			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:154763230C>T	ENST00000607772.1	-	3	955	c.411G>A	c.(409-411)tgG>tgA	p.W137*	CNKSR3_ENST00000479339.1_Nonsense_Mutation_p.W57*	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	137	CRIC.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ACCGGTCCAGCCACGCCAGCA	0.562													3	40					0	0	0	0	T	154763230	C	T	154763230	4	4	181	1	0	0	0	0	0	1	0	0	3638	740	26	4	1300	4	CNKSR3	6	154763230	Nonsense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	1931784	154763230	16351837	43	31780											
CCDC146	57639	broad.mit.edu	37	chr7	76909918	76909918	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaatgatcgaagaggagAtggtgcagcttcgcaaaaga	15	7	12	7	2	1	4	1	1	0	3	3	6	1	4	0	2	2	3	0	2	4	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr7:76909918A>G	ENST00000285871.4	+	14	1994	c.1867A>G	c.(1867-1869)Atg>Gtg	p.M623V	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.M337V	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	623										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CGAAGAGGAGATGGTGCAGCT	0.408													5	13					0	0	0	0	G	76909918	A	G	76909918	3	3	181	1	0	0	0	0	1	0	0	0	2805	333	12	5	1917	5	CCDC146	7	76909918	Missense_Mutation	SNP	A	TCGA-CR-6477-01A-11D-1870-08		76909918	82228745	44	31781											
MUC17	140453	broad.mit.edu	37	chr7	100683015	100683015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggctagcaccgtttcaaCaactgctgttgacaccagca	11	9	9	12	1	1	2	1	2	0	0	1	2	1	2	2	1	5	6	2	1	3	3			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr7:100683015C>T	ENST00000306151.4	+	3	8382	c.8318C>T	c.(8317-8319)aCa>aTa	p.T2773I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2773	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCGTTTCAACAACTGCTGTT	0.488													63	368					0	0	0	0	T	100683015	C	T	100683015	3	4	181	1	0	0	0	0	1	0	0	0	10044	478	17	4	8328	4	MUC17	7	100683015	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	23773097	100683015	58455648	45	31782											
PMPCB	9512	broad.mit.edu	37	chr7	102952157	102952158	+	Frame_Shift_Ins	INS	-	-	T																															aaatcttctgaaaacaaacaINStgttgttgcagcttgatggt																										TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr7:102952157_102952158insT	ENST00000249269.4	+	10	1260_1261	c.1222_1223insT	c.(1222-1224)gttfs	p.V408fs	PMPCB_ENST00000428154.1_Frame_Shift_Ins_p.V408fs|PMPCB_ENST00000420236.2_Frame_Shift_Ins_p.V303fs	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	408					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAAAACAAACATGTTGTTGCAG	0.356													7	33	---	---	---	---					T	102952158	-	T	102952157	7	5	181	1	0	1	1	0	0	0	0	0	12213	217	8	0	1260	0	PMPCB	7	102952157	Frame_Shift_Ins	INS	-	TCGA-CR-6477-01A-11D-1870-08	2269142	102952157	56186506	46	31783											
CSMD1	64478	broad.mit.edu	37	chr8	3265649	3265649	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgacttcctggctccgagaTaatcaaccagacacagttca	12	9	7	13	2	2	2	2	0	0	2	5	4	4	2	3	1	1	2	3	1	2	3			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:3265649T>G	ENST00000520002.1	-	15	2401	c.1846A>C	c.(1846-1848)Atc>Ctc	p.I616L	CSMD1_ENST00000602557.1_Missense_Mutation_p.I616L|CSMD1_ENST00000400186.3_Missense_Mutation_p.I616L|CSMD1_ENST00000542608.1_Missense_Mutation_p.I615L|CSMD1_ENST00000539096.1_Missense_Mutation_p.I615L|CSMD1_ENST00000537824.1_Missense_Mutation_p.I615L|CSMD1_ENST00000602723.1_Missense_Mutation_p.I616L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	616	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCTCCGAGATAATCAACCAG	0.403													5	23					0	0	0	0	G	3265649	T	G	3265649	3	3	181	1	0	0	0	0	1	0	0	0	3976	1406	49	5	9079	5	CSMD1	8	3265649	Missense_Mutation	SNP	T	TCGA-CR-6477-01A-11D-1870-08		3265649	143098373	47	31784											
RP1L1	94137	broad.mit.edu	37	chr8	10466397	10466397	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaccctcgtccactccaggCccctggctcagccccggccc	4	6	8	23	2	2	0	2	0	0	0	5	0	4	0	8	3	1	1	8	3	0	0			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:10466397C>A	ENST00000382483.3	-	4	5434	c.5211G>T	c.(5209-5211)ggG>ggT	p.G1737G		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1737					intracellular signal transduction					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)		CCACTCCAGGCCCCTGGCTCA	0.657													12	123					1.08611e-07	1.1651e-07	1	0	A	10466397	C	A	10466397	2	1	181	1	0	0	0	0	0	0	0	1	13618	726	26	4		4	RP1L1	8	10466397	Silent	SNP	C	TCGA-CR-6477-01A-11D-1870-08	7200748	10466397	135897625	48	31785											
POTEA	340441	broad.mit.edu	37	chr8	43173712	43173712	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagttccacaaagaaagagCagaaagcatgaaaatcagca	20	6	8	7	0	1	4	1	1	0	3	2	4	2	4	1	0	3	4	1	0	6	2			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:43173712C>T	ENST00000522175.2	+	0	998							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAGAAAGAGCAGAAAGCATG	0.403													11	71					0	0	0	0	T	43173712	C	T	43173712	1	4	181	0	1	0	0	0	0	0	0	0	12333	709	25	4		4	POTEA	8	43173712	RNA	SNP	C	TCGA-CR-6477-01A-11D-1870-08	32707315	43173712	103190310	49	31786											
SLC25A32	81034	broad.mit.edu	37	chr8	104415406	104415406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttaccttatataatccacGcacaccttcatacttatata	13	15	2	11	1	1	0	1	0	0	0	2	0	2	0	3	0	2	2	3	0	8	9			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:104415406G>A	ENST00000297578.4	-	4	704	c.538C>T	c.(538-540)Cgt>Tgt	p.R180C	SLC25A32_ENST00000543107.1_Missense_Mutation_p.R48C	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	180					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TATAATCCACGCACACCTTCA	0.318													3	27					0	0	0	0	A	104415406	G	A	104415406	3	1	181	1	0	0	0	0	1	0	0	0	14584	1087	38	1	425	1	SLC25A32	8	104415406	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	61241694	104415406	41948616	50	31787											
CSMD3	114788	broad.mit.edu	37	chr8	113347570	113347570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataccaaccgtgataactgaGcacaaaaaagccacttgttg	16	8	7	10	1	0	2	0	2	0	0	0	2	0	2	3	0	5	2	3	0	6	4			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:113347570G>A	ENST00000297405.5	-	45	7397	c.7153C>T	c.(7153-7155)Ctc>Ttc	p.L2385F	CSMD3_ENST00000352409.3_Missense_Mutation_p.L2315F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2345F|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2281F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2385	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATAACTGAGCACAAAAAAG	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	28					0	0	0	0	A	113347570	G	A	113347570	3	1	181	1	0	0	0	0	1	0	0	0	3978	971	34	4	4078	4	CSMD3	8	113347570	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	8932164	113347570	33016452	51	31788											
TLE4	7091	broad.mit.edu	37	chr9	82320810	82320810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtcaatgcaggacagcGatggtgagaaaagtgatgac	14	8	13	6	1	1	3	1	3	0	1	1	6	1	4	0	2	2	1	0	2	3	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr9:82320810G>T	ENST00000376520.4	+	10	1564	c.736G>T	c.(736-738)Gat>Tat	p.D246Y	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.D246Y|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376552.2_Missense_Mutation_p.D246Y|TLE4_ENST00000265284.6_Missense_Mutation_p.D221Y			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCAGGACAGCGATGGTGAGAA	0.398													48	65					3.76628e-20	4.27328e-20	1	0	T	82320810	G	T	82320810	3	4	181	1	0	0	0	0	1	0	0	0	16035	1058	37	3	774	3	TLE4	9	82320810	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08		82320810	58892621	52	31789											
AGAP6	414189	broad.mit.edu	37	chr10	51768861	51768861	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggtgattatatgaagaatAttcataaaaaagagattgac	19	12	8	2	0	1	5	1	3	0	2	1	6	1	5	0	1	0	0	0	1	9	7			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:51768861A>G	ENST00000374056.4	+	7	1305	c.907A>G	c.(907-909)Att>Gtt	p.I303V	AGAP6_ENST00000412531.3_Missense_Mutation_p.I326V			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	326					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TATGAAGAATATTCATAAAAA	0.433													38	200					0	0	0	0	G	51768861	A	G	51768861	3	3	181	1	0	0	0	0	1	0	0	0	372	449	16	5	1006	5	AGAP6	10	51768861	Missense_Mutation	SNP	A	TCGA-CR-6477-01A-11D-1870-08		51768861	83765886	53	31790											
LZTS2	84445	broad.mit.edu	37	chr10	102763471	102763475	+	Frame_Shift_Del	DEL	AGTGG	AGTGG	-																															ctgacaaacccctggcatttAgtggctgggccagtggctgc																										TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:102763471_102763475delAGTGG	ENST00000370220.1	+	2	3679_3683	c.616_620delAGTGG	c.(616-621)cfs	p.SG206fs	LZTS2_ENST00000370223.3_Frame_Shift_Del_p.SG206fs			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	206	Required for centrosomal localization (By similarity).|Ser-rich.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CCTGGCATTTAGTGGCTGGGCCAGT	0.644													44	220	---	---	---	---					-	102763475	AGTGG	-	102763471	7	5	181	1	0	1	0	1	0	0	0	0	9204	420	15	0	622	0	LZTS2	10	102763471	Frame_Shift_Del	DEL	AGTGG	TCGA-CR-6477-01A-11D-1870-08	50994610	102763471	32771276	54	31791											
C10orf118	55088	broad.mit.edu	37	chr10	115923080	115923080	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatctgctcctgatcttcGttttacatctaagaaattga	12	15	5	9	1	3	3	0	2	3	1	5	3	4	3	1	0	2	2	1	0	4	5			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:115923080G>A	ENST00000369287.3	-	0	214				C10orf118_ENST00000369286.1_De_novo_Start_InFrame|C10orf118_ENST00000369285.3_De_novo_Start_InFrame	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118											NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CCTGATCTTCGTTTTACATCT	0.368													16	28					0	0	0	0	A	115923080	G	A	115923080	1	1	181	1	0	0	0	0	0	0	0	0	1597	1160	40	1		1	C10orf118	10	115923080	Translation_Start_Site	SNP	G	TCGA-CR-6477-01A-11D-1870-08	13159609	115923080	19611667	55	31792											
SEC23IP	11196	broad.mit.edu	37	chr10	121685722	121685722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtgaattatgaatcttttGaagttggcgccggacaggtg	9	13	14	5	2	1	3	0	3	1	0	1	4	1	4	1	3	0	1	1	3	4	4			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:121685722G>A	ENST00000369075.3	+	13	2368	c.2296G>A	c.(2296-2298)Gaa>Aaa	p.E766K	SEC23IP_ENST00000543134.1_Missense_Mutation_p.E555K	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	766					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGAATCTTTTGAAGTTGGCGC	0.418													9	143					0	0	0	0	A	121685722	G	A	121685722	3	1	181	1	0	0	0	0	1	0	0	0	14080	1291	45	2	2346	2	SEC23IP	10	121685722	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	5762642	121685722	13849025	56	31793											
OR5J2	282775	broad.mit.edu	37	chr11	55945016	55945016	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaagggccatagaaatgaAacatttcctctgttaatttc	15	12	7	7	0	1	2	0	1	1	1	3	3	2	2	2	1	1	1	2	1	6	4			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:55945016A>C	ENST00000312298.1	+	1	923	c.923A>C	c.(922-924)aAa>aCa	p.K308T		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATAGAAATGAAACATTTCCTC	0.388													5	18					0	0	0	0	C	55945016	A	C	55945016	3	2	181	1	0	0	0	0	1	0	0	0	11236	14	1	5	925	5	OR5J2	11	55945016	Missense_Mutation	SNP	A	TCGA-CR-6477-01A-11D-1870-08		55945016	79061500	57	31794											
ACTN3	89	broad.mit.edu	37	chr11	66330402	66330402	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgagcaagttgtagcttccTtcaagatcttggcaggagac	10	11	11	9	0	2	3	1	1	1	2	3	4	3	3	1	2	2	5	1	2	3	5			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:66330402T>C	ENST00000513398.1	+	0	2621				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TGTAGCTTCCTTCAAGATCTT	0.612													10	75					0	0	0	0	C	66330402	T	C	66330402	1	2	181	0	1	0	0	0	0	0	0	0	206	1609	56	5		5	ACTN3	11	66330402	RNA	SNP	T	TCGA-CR-6477-01A-11D-1870-08	10385386	66330402	68676114	58	31795											
CPT1A	1374	broad.mit.edu	37	chr11	68571514	68571514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaccggcaggcgaggcagcGatgtctggaagctgtacaac	10	5	16	10	3	1	0	0	0	1	0	1	4	1	2	1	5	4	4	1	5	3	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:68571514G>A	ENST00000265641.5	-	5	663	c.509C>T	c.(508-510)tCg>tTg	p.S170L	CPT1A_ENST00000376618.2_Missense_Mutation_p.S170L|CPT1A_ENST00000539743.1_Missense_Mutation_p.S170L|CPT1A_ENST00000540367.1_Missense_Mutation_p.S170L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	170					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCGAGGCAGCGATGTCTGGAA	0.498													7	54					0	0	0	0	A	68571514	G	A	68571514	3	1	181	1	0	0	0	0	1	0	0	0	3861	1059	37	1	1912	1	CPT1A	11	68571514	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	2241112	68571514	66435002	59	31796											
NUMA1	4926	broad.mit.edu	37	chr11	71725761	71725761	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgggaggctgtttcctGctgctcacctgccttgcgca	3	11	11	16	2	1	0	1	0	0	0	3	1	3	1	4	2	4	5	4	2	0	2			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:71725761G>A	ENST00000393695.3	-	15	3119	c.2788C>T	c.(2788-2790)Cag>Tag	p.Q930*	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Nonsense_Mutation_p.Q930*	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	930					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTGTTTCCTGCTGCTCACCT	0.607			T	RARA	APL								23	66					0	0	0	0	A	71725761	G	A	71725761	4	1	181	1	0	0	0	0	0	1	0	0	10821	1328	46	4	3611	4	NUMA1	11	71725761	Nonsense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	3154247	71725761	63280755	60	31797											
OR10S1	219873	broad.mit.edu	37	chr11	123847715	123847715	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaagatgtaggaaataacGatgaggatgaggcagcctgc	15	7	14	5	1	0	4	0	3	0	1	0	7	0	6	1	3	3	2	1	3	4	2			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:123847715G>A	ENST00000531945.1	-	1	773	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGAAATAACGATGAGGATGA	0.592													5	46					0	0	0	0	A	123847715	G	A	123847715	2	1	181	1	0	0	0	0	0	0	0	1	10989	1048	37	1		1	OR10S1	11	123847715	Silent	SNP	G	TCGA-CR-6477-01A-11D-1870-08	52121954	123847715	11158801	61	31798											
CPNE8	144402	broad.mit.edu	37	chr12	39069531	39069531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctactcaccatcaaattctgCtggtccaacacctactataa	13	11	3	14	0	3	0	2	0	1	0	4	0	4	0	3	1	4	1	3	1	6	5			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr12:39069531C>T	ENST00000331366.5	-	18	1516	c.1420G>A	c.(1420-1422)Gca>Aca	p.A474T	CPNE8_ENST00000360449.3_Missense_Mutation_p.A462T|CPNE8_ENST00000538596.2_Missense_Mutation_p.A143T|CPNE8_ENST00000546603.1_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	474	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TCAAATTCTGCTGGTCCAACA	0.318													3	65					0	0	0	0	T	39069531	C	T	39069531	3	4	181	1	0	0	0	0	1	0	0	0	3848	797	28	4	286	4	CPNE8	12	39069531	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08		39069531	94782364	62	31799											
NAV3	89795	broad.mit.edu	37	chr12	78511829	78511829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggacagattcagagaaacGctccaccacagacgagacct	15	4	10	12	2	1	4	1	0	0	4	2	8	2	5	3	1	1	1	3	1	1	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr12:78511829G>A	ENST00000397909.2	+	14	2965	c.2792G>A	c.(2791-2793)cGc>cAc	p.R931H	NAV3_ENST00000266692.7_Missense_Mutation_p.R931H|NAV3_ENST00000536525.2_Missense_Mutation_p.R931H|NAV3_ENST00000228327.6_Missense_Mutation_p.R931H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	931						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCAGAGAAACGCTCCACCACA	0.388										HNSCC(70;0.22)			30	124					0	0	0	0	A	78511829	G	A	78511829	3	1	181	1	0	0	0	0	1	0	0	0	10255	1087	38	1	2846	1	NAV3	12	78511829	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	39442298	78511829	55340066	63	31800											
NUP37	79023	broad.mit.edu	37	chr12	102471261	102471261	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataaaaccggattgttccAttcttctctgcaaccattag	11	14	5	11	1	3	0	1	0	2	0	5	1	4	1	3	1	3	2	3	1	4	6			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr12:102471261A>G	ENST00000552283.1	-	7	700	c.561T>C	c.(559-561)aaT>aaC	p.N187N	NUP37_ENST00000251074.1_Silent_p.N187N			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	187					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GGATTGTTCCATTCTTCTCTG	0.363													9	68					0	0	0	0	G	102471261	A	G	102471261	2	3	181	1	0	0	0	0	0	0	0	1	10835	214	8	5		5	NUP37	12	102471261	Silent	SNP	A	TCGA-CR-6477-01A-11D-1870-08	23959432	102471261	31380634	64	31801											
C1QTNF9	338872	broad.mit.edu	37	chr13	24895797	24895797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcctgcagctgaagctcgGggatgaggtgtggctgcagg	6	9	18	8	1	0	2	0	2	0	0	2	3	1	3	1	5	4	5	1	5	1	0			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr13:24895797G>A	ENST00000382071.2	+	4	978	c.893G>A	c.(892-894)gGg>gAg	p.G298E	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G298E			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	298	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)		CTGAAGCTCGGGGATGAGGTG	0.507													4	89					0	0	0	0	A	24895797	G	A	24895797	3	1	181	1	0	0	0	0	1	0	0	0	1989	1232	43	4	903	4	C1QTNF9	13	24895797	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08		24895797	90274081	65	31802											
PELI2	57161	broad.mit.edu	37	chr14	56755320	56755320	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcacggatattcgccgccGgatttgactcttccaaaaac	11	9	8	13	4	1	1	0	1	1	0	3	3	2	3	3	2	2	1	3	2	3	4			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:56755320G>T	ENST00000267460.4	+	4	761	c.475G>T	c.(475-477)Gga>Tga	p.G159*		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	159					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						ATTCGCCGCCGGATTTGACTC	0.438													11	27					9.05144e-12	9.98196e-12	1	0	T	56755320	G	T	56755320	4	4	181	1	0	0	0	0	0	1	0	0	11793	1117	39	3	489	3	PELI2	14	56755320	Nonsense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08		56755320	50594220	66	31803											
HIF1A	3091	broad.mit.edu	37	chr14	62203800	62203800	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccagccgctggagacacaAtcatatctttagattttggc	10	11	8	12	1	2	2	1	0	1	2	2	3	2	2	3	2	1	1	3	2	3	5			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:62203800A>G	ENST00000394997.1	+	9	1490	c.1225A>G	c.(1225-1227)Atc>Gtc	p.I409V	RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000539097.1_Missense_Mutation_p.I432V|HIF1A_ENST00000557538.1_Missense_Mutation_p.I349V|HIF1A_ENST00000323441.6_Missense_Mutation_p.I408V|HIF1A_ENST00000337138.4_Missense_Mutation_p.I408V|HIF1A-AS2_ENST00000554254.1_lincRNA			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	408	N-terminal VHL recognition site.|ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TGGAGACACAATCATATCTTT	0.393													26	36					0	0	0	0	G	62203800	A	G	62203800	3	3	181	1	0	0	0	0	1	0	0	0	7153	101	4	5	1256	5	HIF1A	14	62203800	Missense_Mutation	SNP	A	TCGA-CR-6477-01A-11D-1870-08	5448480	62203800	45145740	67	31804											
SYT16	83851	broad.mit.edu	37	chr14	62536483	62536483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaaccaaaattcagccGttcgttgttgacacacggag	13	8	10	10	3	1	2	1	1	0	1	2	3	1	3	2	1	2	4	2	1	3	4			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:62536483G>A	ENST00000430451.2	+	2	883	c.686G>A	c.(685-687)cGt>cAt	p.R229H	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.R229H	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	229								p.R229L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AAATTCAGCCGTTCGTTGTTG	0.473													14	102					0	0	0	0	A	62536483	G	A	62536483	3	1	181	1	0	0	0	0	1	0	0	0	15563	1145	40	1	692	1	SYT16	14	62536483	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	332683	62536483	44813057	68	31805											
MPP5	64398	broad.mit.edu	37	chr14	67787776	67787776	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgattttgtttgcctagatAcaacccggagtaggcgagac	10	11	11	9	2	0	3	0	1	0	2	0	5	0	4	2	2	3	2	2	2	4	6			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:67787776A>G	ENST00000261681.4	+	13	2201	c.1540A>G	c.(1540-1542)Aca>Gca	p.T514A	MPP5_ENST00000555925.1_Missense_Mutation_p.T480A|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	514	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TTGCCTAGATACAACCCGGAG	0.438													3	84					0	0	0	0	G	67787776	A	G	67787776	3	3	181	1	0	0	0	0	1	0	0	0	9807	391	14	5	1582	5	MPP5	14	67787776	Missense_Mutation	SNP	A	TCGA-CR-6477-01A-11D-1870-08	5251293	67787776	39561764	69	31806											
KIAA0247	9766	broad.mit.edu	37	chr14	70175480	70175481	+	Frame_Shift_Ins	INS	-	-	T																															tcatacgaggaggctgtataINStggcagttctggtcactgtg																										TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:70175480_70175481insT	ENST00000342745.4	+	5	858_859	c.545_546insT	c.(544-546)tggfs	p.W182fs		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	182						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GAGGCTGTATATGGCAGTTCTG	0.589													63	78	---	---	---	---					T	70175481	-	T	70175480	7	5	181	1	0	1	1	0	0	0	0	0	8216	449	16	0	559	0	KIAA0247	14	70175480	Frame_Shift_Ins	INS	-	TCGA-CR-6477-01A-11D-1870-08	2387704	70175480	37174060	70	31807											
MYO9A	4649	broad.mit.edu	37	chr15	72227761	72227761	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttatcaagcaaggaggTgccacttgatagtctgctct	10	13	9	9	0	4	1	1	1	3	0	4	2	4	2	1	2	3	2	1	2	4	4			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr15:72227761T>A	ENST00000356056.5	-	17	2915	c.2443A>T	c.(2443-2445)Acc>Tcc	p.T815S	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.T815S|MYO9A_ENST00000424560.1_Missense_Mutation_p.T815S|MYO9A_ENST00000444904.1_Missense_Mutation_p.T796S|MYO9A_ENST00000566885.1_Missense_Mutation_p.T435S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	815					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGCAAGGAGGTGCCACTTGAT	0.393													13	76					0	0	0	0	A	72227761	T	A	72227761	3	1	181	1	0	0	0	0	1	0	0	0	10154	1696	59	5	5307	5	MYO9A	15	72227761	Missense_Mutation	SNP	T	TCGA-CR-6477-01A-11D-1870-08		72227761	30303631	71	31808											
ABCA3	21	broad.mit.edu	37	chr16	2369816	2369816	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtccacagcatgctgcacGgccaggaagccttcccggat	8	6	12	15	3	0	0	0	0	0	0	2	2	2	2	4	4	4	3	4	4	1	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:2369816G>A	ENST00000301732.5	-	8	1339	c.639C>T	c.(637-639)gcC>gcT	p.A213A	ABCA3_ENST00000382381.3_Silent_p.A213A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	213					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CATGCTGCACGGCCAGGAAGC	0.652													10	66					0	0	0	0	A	2369816	G	A	2369816	2	1	181	1	0	0	0	0	0	0	0	1	33	1103	39	1		1	ABCA3	16	2369816	Silent	SNP	G	TCGA-CR-6477-01A-11D-1870-08		2369816	87984937	72	31809											
ACSM5	54988	broad.mit.edu	37	chr16	20442585	20442585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgcctcctggagaagaggGgaatgttgccgtccgtatca	8	9	13	11	2	1	2	1	0	0	2	3	4	3	3	5	3	2	2	5	3	3	2			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:20442585G>A	ENST00000331849.4	+	10	1397	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	417					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGAGAAGAGGGGAATGTTGCC	0.522													18	151					0	0	0	0	A	20442585	G	A	20442585	3	1	181	1	0	0	0	0	1	0	0	0	187	1232	43	4	1284	4	ACSM5	16	20442585	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	18072769	20442585	69912168	73	31810											
ITFG1	81533	broad.mit.edu	37	chr16	47294551	47294551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaaacattcgacgcgcctCttcacagcttgcattattac	10	14	5	12	3	2	0	1	0	1	0	3	1	2	0	1	0	4	2	1	0	4	7			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:47294551C>G	ENST00000320640.6	-	11	1354	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.E263Q	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	376						extracellular region|integral to membrane		p.E376K(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CGACGCGCCTCTTCACAGCTT	0.438													7	71					0	0	0	0	G	47294551	C	G	47294551	3	3	181	1	0	0	0	0	1	0	0	0	7922	922	32	2	744	2	ITFG1	16	47294551	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	26851966	47294551	43060202	74	31811											
CES2	8824	broad.mit.edu	37	chr16	66969474	66969474	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccactgctggacagaccCggggcagcctctgggtgaac	8	6	14	13	1	1	2	0	1	1	1	2	4	2	3	3	4	3	2	3	4	1	0			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:66969474C>A	ENST00000317091.4	+	1	1112	c.128C>A	c.(127-129)cCg>cAg	p.P43Q	CES2_ENST00000417689.1_Missense_Mutation_p.P43Q	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	0					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TGGACAGACCCGGGGCAGCCT	0.682													10	78					2.17888e-05	2.31628e-05	1	0	A	66969474	C	A	66969474	3	1	181	1	0	0	0	0	1	0	0	0	3299	652	23	3	130	3	CES2	16	66969474	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	19674923	66969474	23385279	75	31812											
CENPT	80152	broad.mit.edu	37	chr16	67863714	67863714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagatgctcctggcccGtcagcctcagcagtcccctg	6	8	10	17	1	2	2	2	1	0	1	4	2	4	2	6	1	3	2	6	1	1	0			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:67863714G>A	ENST00000562787.1	-	12	1688	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	CENPT_ENST00000440851.2_Silent_p.D380D|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000219172.3_Silent_p.D380D	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	380					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTCCTGGCCCGTCAGCCTCAG	0.612													4	143					0	0	0	0	A	67863714	G	A	67863714	2	1	181	1	0	0	0	0	0	0	0	1	3271	1136	40	1		1	CENPT	16	67863714	Silent	SNP	G	TCGA-CR-6477-01A-11D-1870-08	894240	67863714	22491039	76	31813											
USP6	9098	broad.mit.edu	37	chr17	5042701	5042701	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccccgccatgggcatctcgTttttccacgccctgtcctgg	3	12	9	17	3	1	0	0	0	1	0	5	0	4	0	6	2	0	2	6	2	0	2			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:5042701T>G	ENST00000574788.1	+	22	3460	c.1230T>G	c.(1228-1230)cgT>cgG	p.R410R	USP6_ENST00000304328.5_Silent_p.R93R|USP6_ENST00000250066.6_Silent_p.R410R|USP6_ENST00000332776.4_Silent_p.R410R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	410					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGGCATCTCGTTTTTCCACGC	0.662			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								6	53					0	0	0	0	G	5042701	T	G	5042701	2	3	181	1	0	0	0	0	0	0	0	1	17182	1712	60	5		5	USP6	17	5042701	Silent	SNP	T	TCGA-CR-6477-01A-11D-1870-08		5042701	76152509	77	31814											
TP53	7157	broad.mit.edu	37	chr17	7574003	7574003	+	Frame_Shift_Del	DEL	G	G	-																															caaggcctcattcagctctcGgaacatctcgaagcgctcac																										TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:7574003delG	ENST00000269305.4	-	10	1213	c.1024delC	c.(1024-1026)gafs	p.R342fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.R342fs|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAGCTCTCGGAACATCTCG	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	36	---	---	---	---					-	7574003	G	-	7574003	7	5	181	1	0	1	0	1	0	0	0	0	16476	1124	39	0	165	0	TP53	17	7574003	Frame_Shift_Del	DEL	G	TCGA-CR-6477-01A-11D-1870-08	2531302	7574003	73621207	78	31815											
MYH1	4619	broad.mit.edu	37	chr17	10398332	10398332	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacgatgctgcaggtccttCaccgtctgttccaggttctt	6	13	10	12	2	3	1	1	0	2	1	5	2	5	1	3	2	2	4	3	2	0	4			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:10398332C>T	ENST00000226207.5	-	37	5476	c.5382G>A	c.(5380-5382)gtG>gtA	p.V1794V	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1794						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGGTCCTTCACCGTCTGTT	0.557													27	145					0	0	0	0	T	10398332	C	T	10398332	2	4	181	1	0	0	0	0	0	0	0	1	10099	813	29	2		2	MYH1	17	10398332	Silent	SNP	C	TCGA-CR-6477-01A-11D-1870-08	2824329	10398332	70796878	79	31816											
MYH1	4619	broad.mit.edu	37	chr17	10408543	10408543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgcacatggcctgggttCgggtaatcagctgggccagc	6	9	14	12	1	2	0	1	0	1	0	3	0	2	0	2	4	3	4	2	4	1	2			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:10408543C>T	ENST00000226207.5	-	21	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	791	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458													34	49					0	0	0	0	T	10408543	C	T	10408543	3	4	181	1	0	0	0	0	1	0	0	0	10099	884	31	1	3527	1	MYH1	17	10408543	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	10211	10408543	70786667	80	31817											
ANKRD13B	124930	broad.mit.edu	37	chr17	27937744	27937744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagctcatcacccgcacacgGacagaacatctttcagaaca	14	6	7	14	2	4	2	3	0	1	2	4	4	4	3	1	1	3	2	1	1	2	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:27937744G>A	ENST00000394859.3	+	8	1018	c.864G>A	c.(862-864)cgG>cgA	p.R288R	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	288										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CCCGCACACGGACAGAACATC	0.542													6	45					0	0	0	0	A	27937744	G	A	27937744	2	1	181	1	0	0	0	0	0	0	0	1	642	1161	41	2		2	ANKRD13B	17	27937744	Silent	SNP	G	TCGA-CR-6477-01A-11D-1870-08	17529201	27937744	53257466	81	31818											
SLC39A6	25800	broad.mit.edu	37	chr18	33703502	33703502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaccactcaaagtcccaaCggccagtgccacaaggaaac	15	4	7	15	1	2	0	2	0	0	0	3	1	3	1	4	2	3	0	4	2	4	0			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr18:33703502C>T	ENST00000269187.5	-	4	1309	c.1096G>A	c.(1096-1098)Gtt>Att	p.V366I	SLC39A6_ENST00000590986.1_Missense_Mutation_p.V366I|SLC39A6_ENST00000440549.2_Missense_Mutation_p.V91I	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	366						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						AAAGTCCCAACGGCCAGTGCC	0.393													22	190					0	0	0	0	T	33703502	C	T	33703502	3	4	181	1	0	0	0	0	1	0	0	0	14710	536	19	1	1211	1	SLC39A6	18	33703502	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08		33703502	44373746	82	31819											
ADAMTSL5	339366	broad.mit.edu	37	chr19	1507298	1507299	+	Frame_Shift_Del	DEL	TG	TG	-																															tgcaatgtctcctggggcccTgtgtctcgggtgtagaccac																										TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr19:1507298_1507299delTG	ENST00000330475.4	-	9	1237_1238	c.794_795delCA	c.(793-795)afs	p.T265fs	ADAMTSL5_ENST00000413997.2_Frame_Shift_Del_p.T275fs|ADAMTSL5_ENST00000395467.2_Frame_Shift_Del_p.T34fs|ADAMTSL5_ENST00000590562.1_5'UTR	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	265						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGGGCCCTGTGTCTCGGGT	0.673													11	75	---	---	---	---					-	1507299	TG	-	1507298	7	5	181	1	0	1	0	1	0	0	0	0	278	1567	55	0	636	0	ADAMTSL5	19	1507298	Frame_Shift_Del	DEL	TG	TCGA-CR-6477-01A-11D-1870-08		1507298	57621685	83	31820											
PRR12	57479	broad.mit.edu	37	chr19	50099892	50099892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaagagccctccgccccCacctcccacggcccagtcta	9	4	7	21	2	1	1	0	0	1	1	3	1	3	1	7	1	1	1	7	1	3	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr19:50099892C>T	ENST00000418929.2	+	4	2312	c.2300C>T	c.(2299-2301)cCa>cTa	p.P767L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	475							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)		CCTCCGCCCCCACCTCCCACG	0.721													3	23					0	0	0	0	T	50099892	C	T	50099892	3	4	181	1	0	0	0	0	1	0	0	0	12664	594	21	4	2314	4	PRR12	19	50099892	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	48592594	50099892	9029091	84	31821											
UMODL1	89766	broad.mit.edu	37	chr21	43536021	43536025	+	Frame_Shift_Del	DEL	GTCAG	GTCAG	-																															gaaaggtcagaatcaaaaatGtcaggtactcagaatccttt																										TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr21:43536021_43536025delGTCAG	ENST00000400427.1	+	13	2965_2969	c.2569_2573delGTCAG	c.(2569-2574)gfs	p.VR857fs	UMODL1_ENST00000408910.2_Frame_Shift_Del_p.VR801fs|UMODL1_ENST00000400424.1_Frame_Shift_Del_p.VR729fs|UMODL1_ENST00000408989.2_Frame_Shift_Del_p.VR929fs	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	801	SEA 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AATCAAAAATGTCAGGTACTCAGAA	0.434													14	88	---	---	---	---					-	43536025	GTCAG	-	43536021	7	5	181	1	0	1	0	1	0	0	0	0	17076	1377	48	0	2835	0	UMODL1	21	43536021	Frame_Shift_Del	DEL	GTCAG	TCGA-CR-6477-01A-11D-1870-08		43536021	4593874	85	31822											
MN1	4330	broad.mit.edu	37	chr22	28193871	28193871	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacgggcctccgggtcctggGgccccaggagcagtccctcc	4	5	15	17	2	0	0	0	0	0	0	4	2	4	1	7	5	1	1	7	5	0	0			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr22:28193871G>A	ENST00000302326.4	-	1	3615	c.2661C>T	c.(2659-2661)gcC>gcT	p.A887A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	887							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGGGTCCTGGGGCCCCAGGAG	0.711			T	ETV6	"AML, meningioma"								14	18					0	0	0	0	A	28193871	G	A	28193871	2	1	181	1	0	0	0	0	0	0	0	1	9743	1219	43	4		4	MN1	22	28193871	Silent	SNP	G	TCGA-CR-6477-01A-11D-1870-08		28193871	23110695	86	31823											
SLC5A1	6523	broad.mit.edu	37	chr22	32487710	32487710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacatctacgccaaggtccGcaagagagcatctgagaaag	14	5	12	10	2	2	2	0	1	2	2	3	5	3	3	2	2	2	2	2	2	4	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr22:32487710G>A	ENST00000266088.4	+	11	1491	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	SLC5A1_ENST00000543737.1_Missense_Mutation_p.R287H	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	414					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GCCAAGGTCCGCAAGAGAGCA	0.522													33	42					0	0	0	0	A	32487710	G	A	32487710	3	1	181	1	0	0	0	0	1	0	0	0	14749	1087	38	1	1283	1	SLC5A1	22	32487710	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	4293839	32487710	18816856	87	31824											
CDKL5	6792	broad.mit.edu	37	chrX	18593592	18593592	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggaaagttgtacttggtGtttgagtatgttgaaaaagt	12	14	14	1	0	0	2	0	2	0	0	0	3	0	3	0	3	1	5	0	3	5	6			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:18593592G>C	ENST00000379989.3	+	6	549	c.264G>C	c.(262-264)gtG>gtC	p.V88V	CDKL5_ENST00000379996.3_Silent_p.V88V	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	88	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGTACTTGGTGTTTGAGTATG	0.378													26	91					0	0	0	0	C	18593592	G	C	18593592	2	2	181	1	0	0	0	0	0	0	0	1	3186	1364	48	4		4	CDKL5	23	18593592	Silent	SNP	G	TCGA-CR-6477-01A-11D-1870-08		18593592	136676968	88	31825											
PDHA1	5160	broad.mit.edu	37	chrX	19377655	19377655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggatgctgcccagtttGccacggccgatcctgagcca	7	9	12	13	2	0	2	0	2	0	0	1	4	1	3	5	2	4	2	5	2	0	2			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:19377655G>A	ENST00000379806.5	+	12	1316	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	PDHA1_ENST00000540249.1_Missense_Mutation_p.A322T|PDHA1_ENST00000379804.1_Missense_Mutation_p.A72T|PDHA1_ENST00000545074.1_Missense_Mutation_p.A360T|PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000422285.2_Missense_Mutation_p.A353T	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	353					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	TGCCCAGTTTGCCACGGCCGA	0.473													42	93					0	0	0	0	A	19377655	G	A	19377655	3	1	181	1	0	0	0	0	1	0	0	0	11735	1319	46	4	1238	4	PDHA1	23	19377655	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	784063	19377655	135892905	89	31826											
DMD	1756	broad.mit.edu	37	chrX	31950341	31950341	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatattcttttgttcttcTagcctggagaaagaagaata	14	14	8	5	0	3	4	0	0	3	4	3	5	3	4	1	1	1	1	1	1	7	8			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:31950341T>C	ENST00000357033.4	-	46	6824	c.6618A>G	c.(6616-6618)ctA>ctG	p.L2206L	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Silent_p.L2202L|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2206					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTGTTCTTCTAGCCTGGAGA	0.303													8	44					0	0	0	0	C	31950341	T	C	31950341	2	2	181	1	0	0	0	0	0	0	0	1	4617	1509	53	5		5	DMD	23	31950341	Silent	SNP	T	TCGA-CR-6477-01A-11D-1870-08	12572686	31950341	123320219	90	31827											
CCNB3	85417	broad.mit.edu	37	chrX	50028249	50028249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccagtcatcatgaccCatctgaaaaggttagagcaa	13	9	9	10	0	3	3	2	2	1	1	3	3	3	3	2	1	2	2	2	1	4	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:50028249C>T	ENST00000376042.1	+	3	384	c.86C>T	c.(85-87)cCa>cTa	p.P29L	CCNB3_ENST00000348603.2_Missense_Mutation_p.P29L|CCNB3_ENST00000276014.7_Missense_Mutation_p.P29L|CCNB3_ENST00000376038.1_Missense_Mutation_p.P29L			Q8WWL7	CCNB3_HUMAN	cyclin B3	29					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CATCATGACCCATCTGAAAAG	0.458													6	75					0	0	0	0	T	50028249	C	T	50028249	3	4	181	1	0	0	0	0	1	0	0	0	2943	594	21	4	88	4	CCNB3	23	50028249	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	18077908	50028249	105242311	91	31828											
BRWD3	254065	broad.mit.edu	37	chrX	79988994	79988994	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaacagcaacaactttaTcctaagacatgaaacagatt	18	9	5	9	0	0	4	0	2	0	2	1	4	1	4	1	0	5	1	1	0	6	4			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:79988994T>C	ENST00000373275.4	-	12	1304	c.1086_splice	c.e12-1	p.D363_splice		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	363										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AACAACTTTATCCTAAGACAT	0.299													6	108					0	0	0	0	C	79988994	T	C	79988994	5	2	181	1	0	0	0	0	0	0	1	0	1534	1449	50	5	4440	5	BRWD3	23	79988994	Splice_Site	SNP	T	TCGA-CR-6477-01A-11D-1870-08	29960745	79988994	75281566	92	31829											
PCDH11X	27328	broad.mit.edu	37	chrX	91133770	91133770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcaccacaccttaaggCtgctcagaaaaacaagcaga	16	4	8	13	0	1	2	1	0	0	2	1	2	1	2	3	2	3	4	3	2	4	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:91133770C>A	ENST00000373094.1	+	2	3376	c.2531C>A	c.(2530-2532)gCt>gAt	p.A844D	PCDH11X_ENST00000361655.2_Missense_Mutation_p.A844D|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A844D|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A844D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A844D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A844D|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A844D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A844D|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A844D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	844					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CACCTTAAGGCTGCTCAGAAA	0.438													45	107					2.79147e-13	3.10748e-13	1	0	A	91133770	C	A	91133770	3	1	181	1	0	0	0	0	1	0	0	0	11579	797	28	4	2537	4	PCDH11X	23	91133770	Missense_Mutation	SNP	C	TCGA-CR-6477-01A-11D-1870-08	11144776	91133770	64136790	93	31830											
UPF3B	65109	broad.mit.edu	37	chrX	118985732	118985732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttttttttttttttacctCgtatcattagaaaaaaactc	11	22	2	6	1	1	1	1	0	0	1	3	1	1	1	1	0	2	1	1	0	6	10			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:118985732C>T	ENST00000276201.2	-	2	330	c.261G>A	c.(259-261)acG>acA	p.T87T	UPF3B_ENST00000345865.2_Silent_p.T87T	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	87	Necessary for interaction with UPF2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTTTTACCTCGTATCATTAG	0.318													7	8					0	0	0	0	T	118985732	C	T	118985732	2	4	181	1	0	0	0	0	0	0	0	1	17102	871	31	1		1	UPF3B	23	118985732	Silent	SNP	C	TCGA-CR-6477-01A-11D-1870-08	27851962	118985732	36284828	94	31831											
ARHGAP36	158763	broad.mit.edu	37	chrX	130218939	130218939	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgctggatgacaatcagAatgtgcatgatgtggctgca	11	11	13	6	0	1	3	1	2	0	1	1	4	1	4	0	2	3	4	0	2	3	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:130218939A>C	ENST00000276211.5	+	7	1201	c.856A>C	c.(856-858)Aat>Cat	p.N286H	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.N150H|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.N274H	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	286	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGACAATCAGAATGTGCATGA	0.498													63	268					0	0	0	0	C	130218939	A	C	130218939	3	2	181	1	0	0	0	0	1	0	0	0	885	246	9	5	878	5	ARHGAP36	23	130218939	Missense_Mutation	SNP	A	TCGA-CR-6477-01A-11D-1870-08	11233207	130218939	25051621	95	31832											
ZIC3	7547	broad.mit.edu	37	chrX	136649736	136649736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggagcagaacaaccacGtctgctactgggaggagtgc	10	5	14	12	2	1	1	0	0	1	1	1	4	1	4	2	3	6	2	2	3	3	1			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:136649736G>A	ENST00000287538.5	+	1	1436	c.886G>A	c.(886-888)Gtc>Atc	p.V296I	ZIC3_ENST00000370606.3_Missense_Mutation_p.V296I	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	296					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GAACAACCACGTCTGCTACTG	0.612													31	101					0	0	0	0	A	136649736	G	A	136649736	3	1	181	1	0	0	0	0	1	0	0	0	17775	1145	40	1	888	1	ZIC3	23	136649736	Missense_Mutation	SNP	G	TCGA-CR-6477-01A-11D-1870-08	6430797	136649736	18620824	96	31833											
SPANXN3	139067	broad.mit.edu	37	chrX	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-																															ctgacaatcttacctcatcaTtttttttgttattggattca																										TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)atfs	p.N24fs		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453													7	258	---	---	---	---					-	142605149	T	-	142605149	7	5	181	1	0	1	0	1	0	0	0	0	15082	1493	52	0	362	0	SPANXN3	23	142605149	Frame_Shift_Del	DEL	T	TCGA-CR-6477-01A-11D-1870-08	5955413	142605149	12665411	97	31834											
ECE1	1889	broad.mit.edu	37	chr1	21599368	21599368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaagatggagctggtcactGagacacaagcttcgctcagg	11	8	12	10	1	3	2	3	1	0	2	4	4	3	3	0	3	2	3	0	3	2	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:21599368G>A	ENST00000415912.2	-	4	394	c.269C>T	c.(268-270)tCa>tTa	p.S90L	ECE1_ENST00000436918.2_Missense_Mutation_p.S106L|ECE1_ENST00000357071.4_Missense_Mutation_p.S94L|ECE1_ENST00000264205.6_Missense_Mutation_p.S103L|ECE1_ENST00000374893.6_Missense_Mutation_p.S106L	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	106					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GCTGGTCACTGAGACACAAGC	0.597													10	80					0	0	0	0	A	21599368	G	A	21599368	3	1	182	1	0	0	0	0	1	0	0	0	4925	1294	45	2	2059	2	ECE1	1	21599368	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08		21599368	227651253	1	31835											
MECR	51102	broad.mit.edu	37	chr1	29557401	29557401	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggttcgcacccgccacagGgtactgcagacccacatgct	8	6	12	15	2	0	1	0	0	0	1	1	1	0	1	3	3	3	5	3	3	1	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:29557401G>A	ENST00000263702.6	-	1	43	c.18C>T	c.(16-18)acC>acT	p.T6T	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000373791.3_5'UTR			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	6					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CCCGCCACAGGGTACTGCAGA	0.721													3	27					0	0	0	0	A	29557401	G	A	29557401	2	1	182	1	0	0	0	0	0	0	0	1	9493	1219	43	4		4	MECR	1	29557401	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	7958033	29557401	219693220	2	31836											
ZMYM4	9202	broad.mit.edu	37	chr1	35859302	35859302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacagactaaagccacctCttgcaaaccacatacccaaa	17	5	3	16	0	1	1	0	0	1	1	1	1	1	1	4	0	4	1	4	0	5	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:35859302C>T	ENST00000314607.6	+	18	2953	c.2873C>T	c.(2872-2874)tCt>tTt	p.S958F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.S869F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	958					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAGCCACCTCTTGCAAACCA	0.398													11	88					0	0	0	0	T	35859302	C	T	35859302	3	4	182	1	0	0	0	0	1	0	0	0	17797	913	32	2	2943	2	ZMYM4	1	35859302	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	6301901	35859302	213391319	3	31837											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43637162	43637162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacatacaaactcatctctCgctggaagtcgtcttctgga	12	11	7	11	2	4	0	1	0	3	0	7	2	4	2	0	2	3	1	0	2	4	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:43637162C>T	ENST00000431635.2	-	4	624	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	EBNA1BP2_ENST00000472982.1_5'UTR|EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.R104Q	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	104					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTCATCTCTCGCTGGAAGTC	0.493													15	126					0	0	0	0	T	43637162	C	T	43637162	3	4	182	1	0	0	0	0	1	0	0	0	4921	884	31	1	637	1	EBNA1BP2	1	43637162	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	7777860	43637162	205613459	4	31838											
UROD	7389	broad.mit.edu	37	chr1	45478996	45478996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccctctggatgctgccatCattttctccgacatccttgt	5	16	6	14	1	3	0	1	0	2	0	6	2	5	1	4	1	2	1	4	1	0	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:45478996C>T	ENST00000246337.4	+	4	365	c.246C>T	c.(244-246)atC>atT	p.I82I	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	82						cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					ATGCTGCCATCATTTTCTCCG	0.483									Porphyria Cutanea Tarda, Type II				37	130					0	0	0	0	T	45478996	C	T	45478996	2	4	182	1	0	0	0	0	0	0	0	1	17125	816	29	2		2	UROD	1	45478996	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	1841834	45478996	203771625	5	31839											
KTI12	112970	broad.mit.edu	37	chr1	52499004	52499004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgcccgccgcctgggCtctcccgtcctcctcagcgc	1	8	11	21	4	2	0	1	0	1	0	5	0	4	0	6	1	3	3	6	1	0	0			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:52499004C>T	ENST00000371614.1	-	1	484	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	144							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GCCGCCTGGGCTCTCCCGTCC	0.672													21	72					0	0	0	0	T	52499004	C	T	52499004	3	4	182	1	0	0	0	0	1	0	0	0	8637	797	28	4	638	4	KTI12	1	52499004	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	7020008	52499004	196751617	6	31840											
CLCA4	22802	broad.mit.edu	37	chr1	87012825	87012825	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggttattcagaggttttgTtttcctcttagttctgtgcc	4	19	11	7	0	3	1	1	0	2	1	4	1	4	1	2	3	1	4	2	3	2	8			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:87012825T>C	ENST00000370563.3	+	1	65	c.23T>C	c.(22-24)gTt>gCt	p.V8A		NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	8						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AGAGGTTTTGTTTTCCTCTTA	0.363													11	98					0	0	0	0	C	87012825	T	C	87012825	3	2	182	1	0	0	0	0	1	0	0	0	3489	1725	60	5	25	5	CLCA4	1	87012825	Missense_Mutation	SNP	T	TCGA-CR-6478-01A-11D-1870-08	34513821	87012825	162237796	7	31841											
AKNAD1	254268	broad.mit.edu	37	chr1	109366241	109366241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaggaatcttagtgccaCagtcctgacatttgttactc	10	13	9	9	0	1	1	0	1	1	0	3	2	2	2	2	2	2	2	2	2	4	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:109366241C>T	ENST00000370001.3	-	12	2274	c.2006G>A	c.(2005-2007)tGt>tAt	p.C669Y	AKNAD1_ENST00000369994.1_Missense_Mutation_p.C639Y|AKNAD1_ENST00000369995.3_Missense_Mutation_p.C669Y|AKNAD1_ENST00000357393.4_Missense_Mutation_p.C376Y	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	669										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CTTAGTGCCACAGTCCTGACA	0.488													10	55					0	0	0	0	T	109366241	C	T	109366241	3	4	182	1	0	0	0	0	1	0	0	0	464	478	17	4	524	4	AKNAD1	1	109366241	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	22353416	109366241	139884380	8	31842											
DENND2D	79961	broad.mit.edu	37	chr1	111731345	111731345	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttaactcattgatcccctGaccaagagagtctaagatgt	12	12	7	10	0	2	4	1	2	1	2	3	5	3	4	3	0	1	0	3	0	3	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:111731345G>A	ENST00000357640.4	-	10	1307	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	DENND2D_ENST00000369752.5_Nonsense_Mutation_p.Q357*	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	360										breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTGATCCCCTGACCAAGAGAG	0.468													8	207					0	0	0	0	A	111731345	G	A	111731345	4	1	182	1	0	0	0	0	0	1	0	0	4468	1299	45	2	349	2	DENND2D	1	111731345	Nonsense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	2365104	111731345	137519276	9	31843											
HRNR	388697	broad.mit.edu	37	chr1	152187050	152187050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccatgctgagtgtaaccaGaggactgccatgagctagac	12	8	11	10	0	0	4	0	2	0	2	1	5	1	5	3	1	4	3	3	1	2	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:152187050G>A	ENST00000368801.2	-	3	7130	c.7055C>T	c.(7054-7056)tCt>tTt	p.S2352F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2352					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTAACCAGAGGACTGCCA	0.567													19	301					0	0	0	0	A	152187050	G	A	152187050	3	1	182	1	0	0	0	0	1	0	0	0	7409	942	33	2	1501	2	HRNR	1	152187050	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	40455705	152187050	97063571	10	31844											
PPP1R12B	4660	broad.mit.edu	37	chr1	202464747	202464747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcctctaagaggctgtccatCcgagagaggaggcggcccaa	10	6	13	12	2	1	2	0	0	1	2	4	5	4	3	4	4	0	1	4	4	2	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:202464747C>T	ENST00000406302.3	+	17	2538	c.2385C>T	c.(2383-2385)atC>atT	p.I795I	PPP1R12B_ENST00000391959.3_Silent_p.I21I|PPP1R12B_ENST00000367270.4_Silent_p.I21I|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000336894.4_Silent_p.I795I	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	795					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGCTGTCCATCCGAGAGAGGA	0.463													7	48					0	0	0	0	T	202464747	C	T	202464747	2	4	182	1	0	0	0	0	0	0	0	1	12431	845	30	2		2	PPP1R12B	1	202464747	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	50277697	202464747	46785874	11	31845											
USH2A	7399	broad.mit.edu	37	chr1	216017746	216017746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagatagaatactcagtgaCaacaccatttgggtttgaag	15	11	9	6	0	1	4	1	2	0	2	1	4	1	4	1	1	2	1	1	1	6	5			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:216017746C>T	ENST00000366943.2	-	46	9534	c.9148G>A	c.(9148-9150)Gtc>Atc	p.V3050I	USH2A_ENST00000307340.3_Missense_Mutation_p.V3050I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3050	Fibronectin type-III 17.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTCAGTGACAACACCATTT	0.433										HNSCC(13;0.011)			7	61					0	0	0	0	T	216017746	C	T	216017746	3	4	182	1	0	0	0	0	1	0	0	0	17132	478	17	4	6568	4	USH2A	1	216017746	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	13552999	216017746	33232875	12	31846											
MIA3	375056	broad.mit.edu	37	chr1	222801790	222801790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagagagctctagttcagagGaagaaaaagaagatgatgat	18	8	12	3	0	2	7	1	2	1	5	2	9	2	8	0	1	1	2	0	1	6	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:222801790G>A	ENST00000344922.5	+	4	1253	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Missense_Mutation_p.E410K|MIA3_ENST00000344441.6_Missense_Mutation_p.E410K	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	410					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TAGTTCAGAGGAAGAAAAAGA	0.408													15	61					0	0	0	0	A	222801790	G	A	222801790	3	1	182	1	0	0	0	0	1	0	0	0	9634	1175	41	2	1242	2	MIA3	1	222801790	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	6784044	222801790	26448831	13	31847											
LYST	1130	broad.mit.edu	37	chr1	235904814	235904814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttctctcttgtgcagcgtGggctggcgacaaaatatgca	8	12	11	10	2	2	0	0	0	2	0	3	1	2	0	0	2	3	3	0	2	3	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:235904814G>A	ENST00000389794.3	-	31	8440	c.8266C>T	c.(8266-8268)Cac>Tac	p.H2756Y	LYST_ENST00000389793.2_Missense_Mutation_p.H2756Y			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2756					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.H2756N(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTGCAGCGTGGGCTGGCGAC	0.438													11	77					0	0	0	0	A	235904814	G	A	235904814	3	1	182	1	0	0	0	0	1	0	0	0	9193	1348	47	4	3231	4	LYST	1	235904814	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	13103024	235904814	13345807	14	31848											
OR2L8	391190	broad.mit.edu	37	chr1	248112567	248112567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactatctcatccgcatgagCaaaagagtgtgtgtgctgat	11	11	10	9	1	1	3	1	2	1	1	3	3	2	3	1	0	2	3	1	0	3	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:248112567C>A	ENST00000357191.3	+	1	408	c.408C>A	c.(406-408)agC>agA	p.S136R	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCCGCATGAGCAAAAGAGTGT	0.438													5	239					0.000602214	0.000621641	1	0	A	248112567	C	A	248112567	3	1	182	1	0	0	0	0	1	0	0	0	11080	709	25	4	410	4	OR2L8	1	248112567	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	12207753	248112567	1138054	15	31849											
OR2T6	254879	broad.mit.edu	37	chr1	248551586	248551586	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggattctcatcacagtgcAtcagatgacatcggctgaag	12	9	10	10	1	3	3	3	2	1	1	5	4	3	4	0	2	1	2	0	2	1	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:248551586A>C	ENST00000355728.2	+	1	677	c.677A>C	c.(676-678)cAt>cCt	p.H226P		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCACAGTGCATCAGATGACA	0.502													24	85					0	0	0	0	C	248551586	A	C	248551586	3	2	182	1	0	0	0	0	1	0	0	0	11100	217	8	5	679	5	OR2T6	1	248551586	Missense_Mutation	SNP	A	TCGA-CR-6478-01A-11D-1870-08	439019	248551586	699035	16	31850											
OR2T11	127077	broad.mit.edu	37	chr1	248790265	248790265	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgactgagcagaaagtacatGggggtgtggaggcgagagtc	11	7	18	5	1	0	4	0	2	0	2	1	6	0	5	0	4	2	2	0	4	2	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr1:248790265G>A	ENST00000330803.2	-	1	226	c.165C>T	c.(163-165)ccC>ccT	p.P55P		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAAGTACATGGGGGTGTGGA	0.468													6	69					0	0	0	0	A	248790265	G	A	248790265	2	1	182	1	0	0	0	0	0	0	0	1	11089	1335	47	4		4	OR2T11	1	248790265	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	238679	248790265	460356	17	31851											
MBOAT2	129642	broad.mit.edu	37	chr2	9008678	9008678	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcattattaatggcatcAgctatagaaaacaacattag	17	10	7	7	0	1	1	1	0	0	1	1	1	1	1	0	1	4	4	0	1	8	5			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:9008678A>G	ENST00000305997.3	-	9	1083	c.883_splice	c.e9-1	p.A295_splice	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	295					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAATGGCATCAGCTATAGAAA	0.333													3	96					0	0	0	0	G	9008678	A	G	9008678	5	3	182	1	0	0	0	0	0	0	1	0	9426	202	7	5	697	5	MBOAT2	2	9008678	Splice_Site	SNP	A	TCGA-CR-6478-01A-11D-1870-08		9008678	234190695	18	31852											
OTOF	9381	broad.mit.edu	37	chr2	26750743	26750743	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgaaaacctgaatctccaGcatctcatttctgtcgatgc	10	13	7	11	1	3	2	1	2	3	0	6	3	3	2	2	0	3	2	2	0	3	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:26750743G>C	ENST00000272371.2	-	3	310	c.184C>G	c.(184-186)Ctg>Gtg	p.L62V	OTOF_ENST00000403946.3_Missense_Mutation_p.L62V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	62					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAATCTCCAGCATCTCATTT	0.577													11	79					0	0	0	0	C	26750743	G	C	26750743	3	2	182	1	0	0	0	0	1	0	0	0	11374	962	34	4	6314	4	OTOF	2	26750743	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	17742065	26750743	216448630	19	31853											
FAM98A	25940	broad.mit.edu	37	chr2	33810258	33810258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccctccatctgtccagcctCcttgatgcttatttcctctt	4	17	4	16	0	2	1	0	1	2	0	7	1	7	1	6	0	2	1	6	0	1	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:33810258C>T	ENST00000238823.8	-	8	1282	c.1142G>A	c.(1141-1143)gGa>gAa	p.G381E	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Missense_Mutation_p.G186E			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	382	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TGTCCAGCCTCCTTGATGCTT	0.577													6	97					0	0	0	0	T	33810258	C	T	33810258	3	4	182	1	0	0	0	0	1	0	0	0	5701	855	30	2	418	2	FAM98A	2	33810258	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	7059515	33810258	209389115	20	31854											
MAP4K3	8491	broad.mit.edu	37	chr2	39485697	39485697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggtatctctctccagttgGgttacatgagtaacatttgt	9	16	9	7	0	2	1	0	1	2	0	4	1	2	1	1	2	2	4	1	2	3	5			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:39485697G>A	ENST00000263881.3	-	30	2664	c.2340C>T	c.(2338-2340)acC>acT	p.T780T	MAP4K3_ENST00000341681.5_Silent_p.T759T|MAP4K3_ENST00000437545.1_Silent_p.T696T|MAP4K3_ENST00000536018.1_Silent_p.T333T	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	780	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TCTCCAGTTGGGTTACATGAG	0.328													7	40					0	0	0	0	A	39485697	G	A	39485697	2	1	182	1	0	0	0	0	0	0	0	1	9330	1219	43	4		4	MAP4K3	2	39485697	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	5675439	39485697	203713676	21	31855											
TTC7A	57217	broad.mit.edu	37	chr2	47300993	47300993	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggctgccgttgactgcttCctcaccgcccttgagctgga	5	10	12	14	2	1	2	1	2	0	0	2	4	2	3	4	2	3	4	4	2	0	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:47300993C>T	ENST00000319190.5	+	20	2876	c.2508C>T	c.(2506-2508)ttC>ttT	p.F836F	TTC7A_ENST00000409245.1_Silent_p.F802F|CALM2_ENST00000422269.1_Intron|TTC7A_ENST00000394850.2_Silent_p.F860F|TTC7A_ENST00000263737.6_Silent_p.F482F	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	836							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTGACTGCTTCCTCACCGCCC	0.677													10	24					0	0	0	0	T	47300993	C	T	47300993	2	4	182	1	0	0	0	0	0	0	0	1	16808	854	30	2		2	TTC7A	2	47300993	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	7815296	47300993	195898380	22	31856											
NRXN1	9378	broad.mit.edu	37	chr2	50280535	50280535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggctgttgactcagttgtCatagaggaaggcacttcacc	9	11	12	9	0	3	2	3	1	0	1	3	3	3	3	1	3	0	4	1	3	2	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:50280535C>T	ENST00000404971.1	-	22	5461	c.4122G>A	c.(4120-4122)atG>atA	p.M1374I	NRXN1_ENST00000401710.1_Missense_Mutation_p.M322I|NRXN1_ENST00000342183.5_Missense_Mutation_p.M269I|NRXN1_ENST00000401669.2_Missense_Mutation_p.M1334I|NRXN1_ENST00000406316.2_Missense_Mutation_p.M1304I|NRXN1_ENST00000405472.3_Missense_Mutation_p.M1326I|NRXN1_ENST00000406859.3_Missense_Mutation_p.M1304I|NRXN1_ENST00000402717.3_Missense_Mutation_p.M1326I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1304				Missing (in Ref. 2; BAA25504).	adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTCAGTTGTCATAGAGGAAG	0.483													11	102					0	0	0	0	T	50280535	C	T	50280535	3	4	182	1	0	0	0	0	1	0	0	0	10736	826	29	2	533	2	NRXN1	2	50280535	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	2979542	50280535	192918838	23	31857											
USP34	9736	broad.mit.edu	37	chr2	61492562	61492562	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacagcctgtcttgcctcAggtatcatataaagttgctg	11	12	9	9	0	3	1	2	0	1	1	3	1	3	1	2	1	3	3	2	1	5	5			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:61492562A>T	ENST00000398571.2	-	43	5824	c.5748T>A	c.(5746-5748)ccT>ccA	p.P1916P		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1916					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTCTTGCCTCAGGTATCATAT	0.338													15	85					0	0	0	0	T	61492562	A	T	61492562	2	4	182	1	0	0	0	0	0	0	0	1	17161	175	7	5		5	USP34	2	61492562	Silent	SNP	A	TCGA-CR-6478-01A-11D-1870-08	11212027	61492562	181706811	24	31858											
BMP10	27302	broad.mit.edu	37	chr2	69092867	69092867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgggctctagctttgtggGcacacagcaggctttggaag	8	10	15	8	0	1	0	0	0	1	0	1	2	1	1	0	4	2	5	0	4	2	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:69092867G>A	ENST00000295379.1	-	2	1329	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	391					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|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	cell surface|extracellular space|Z disc	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						AGCTTTGTGGGCACACAGCAG	0.512													4	153					0	0	0	0	A	69092867	G	A	69092867	3	1	182	1	0	0	0	0	1	0	0	0	1462	1203	42	4	107	4	BMP10	2	69092867	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	7600305	69092867	174106506	25	31859											
ANKRD36	375248	broad.mit.edu	37	chr2	97866192	97866192	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaaattccattcaggcCacaagtgatgagaaggattc	13	11	9	8	0	2	2	2	2	0	1	4	4	3	3	2	2	0	1	2	2	3	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:97866192C>T	ENST00000420699.2	+	46	3031	c.2787C>T	c.(2785-2787)gcC>gcT	p.A929A	ANKRD36_ENST00000461153.2_Silent_p.A929A	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	929										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CCATTCAGGCCACAAGTGATG	0.333													4	36					0	0	0	0	T	97866192	C	T	97866192	2	4	182	1	0	0	0	0	0	0	0	1	664	581	21	4		4	ANKRD36	2	97866192	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	28773325	97866192	145333181	26	31860											
ACTR1B	10120	broad.mit.edu	37	chr2	98275416	98275416	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaacacctctgccgccttCtcccggttcttactcgggtt	6	12	8	15	3	3	1	0	0	3	1	5	1	3	1	4	2	3	2	4	2	3	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:98275416C>T	ENST00000289228.5	-	5	582	c.366G>A	c.(364-366)gaG>gaA	p.E122E		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	122						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CTGCCGCCTTCTCCCGGTTCT	0.607													25	348					0	0	0	0	T	98275416	C	T	98275416	2	4	182	1	0	0	0	0	0	0	0	1	210	912	32	2		2	ACTR1B	2	98275416	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	409224	98275416	144923957	27	31861											
ANAPC1	64682	broad.mit.edu	37	chr2	112608479	112608479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtccaggaataaaaacCtttcccacctttaagcaata	15	9	6	11	0	0	0	0	0	0	0	2	1	2	1	4	2	2	2	4	2	7	5			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:112608479C>A	ENST00000341068.3	-	14	2296	c.1524G>T	c.(1522-1524)aaG>aaT	p.K508N		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	508					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GAATAAAAACCTTTCCCACCT	0.378													4	20					5.9392e-07	6.37054e-07	1	0	A	112608479	C	A	112608479	3	1	182	1	0	0	0	0	1	0	0	0	598	680	24	4	4450	4	ANAPC1	2	112608479	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	14333063	112608479	130590894	28	31862											
DBI	1622	broad.mit.edu	37	chr2	120125495	120125495	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgctgtatttccagacctGatgcctgcgtttgtgagagc	7	13	11	10	1	0	3	0	2	0	2	1	4	1	3	3	0	4	3	3	0	1	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:120125495G>A	ENST00000393103.2	+	0	243				DBI_ENST00000542275.1_Intron|DBI_ENST00000355857.3_Intron|DBI_ENST00000311521.4_Intron|DBI_ENST00000409094.1_Intron|DBI_ENST00000535617.1_Intron|DBI_ENST00000535757.1_Intron|DBI_ENST00000460901.1_Intron	NM_001079863.1	NP_001073332.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)						transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						ttccagacctgatgcctgcgt	0.572													12	107					0	0	0	0	A	120125495	G	A	120125495	1	1	182	1	0	0	0	0	0	0	0	0	4284	1305	45	2		2	DBI	2	120125495	Translation_Start_Site	SNP	G	TCGA-CR-6478-01A-11D-1870-08	7517016	120125495	123073878	29	31863											
MARCH7	64844	broad.mit.edu	37	chr2	160599714	160599714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaactttcctgtacaaactGtactacctcagctgggagaa	13	11	7	10	0	1	1	1	0	0	1	2	2	2	1	2	1	6	3	2	1	7	5			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:160599714G>A	ENST00000259050.3	+	3	418	c.296G>A	c.(295-297)tGt>tAt	p.C99Y	MARCH7_ENST00000539065.1_Missense_Mutation_p.C99Y|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000409175.1_Missense_Mutation_p.C99Y|MARCH7_ENST00000409591.1_Missense_Mutation_p.C61Y	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	99	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTACAAACTGTACTACCTCA	0.403													10	56					0	0	0	0	A	160599714	G	A	160599714	3	1	182	1	0	0	0	0	1	0	0	0	9375	1377	48	4	302	4	MARCH7	2	160599714	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	40474219	160599714	82599659	30	31864											
SCN9A	6335	broad.mit.edu	37	chr2	167133711	167133711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagctcttaccaaagagctGcatgccgaccacagcaaaaa	15	6	8	12	1	1	1	0	0	1	1	1	2	1	1	3	0	6	5	3	0	5	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:167133711G>T	ENST00000375387.4	-	16	2999	c.2659C>A	c.(2659-2661)Cag>Aag	p.Q887K	SCN9A_ENST00000409435.1_Missense_Mutation_p.Q886K|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q875K|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q887K|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	886						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCAAAGAGCTGCATGCCGACC	0.468													11	115					5.01169e-05	5.22959e-05	1	0	T	167133711	G	T	167133711	3	4	182	1	0	0	0	0	1	0	0	0	14012	1328	46	4	3358	4	SCN9A	2	167133711	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	6533997	167133711	76065662	31	31865											
AOX1	316	broad.mit.edu	37	chr2	201507512	201507512	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgcagccaaatgtggactAtcccctgagaaggtaatact	12	10	10	9	0	0	1	0	1	0	1	1	3	1	2	3	2	3	3	3	2	5	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr2:201507512A>G	ENST00000374700.2	+	25	3076	c.2835A>G	c.(2833-2835)ctA>ctG	p.L945L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	945					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AATGTGGACTATCCCCTGAGA	0.488													9	59					0	0	0	0	G	201507512	A	G	201507512	2	3	182	1	0	0	0	0	0	0	0	1	730	436	16	5		5	AOX1	2	201507512	Silent	SNP	A	TCGA-CR-6478-01A-11D-1870-08	34373801	201507512	41691861	32	31866											
ZNF501	115560	broad.mit.edu	37	chr3	44776296	44776296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaaacaccagcgaattcAtactggagagaaaccatata	18	9	6	8	1	1	1	1	0	0	1	1	4	1	2	2	1	4	0	2	1	8	6			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:44776296A>G	ENST00000396048.2	+	3	820	c.383A>G	c.(382-384)cAt>cGt	p.H128R		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		CAGCGAATTCATACTGGAGAG	0.408													18	33					0	0	0	0	G	44776296	A	G	44776296	3	3	182	1	0	0	0	0	1	0	0	0	18044	217	8	5	385	5	ZNF501	3	44776296	Missense_Mutation	SNP	A	TCGA-CR-6478-01A-11D-1870-08		44776296	153246134	33	31867											
BSN	8927	broad.mit.edu	37	chr3	49689519	49689519	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgactgatgaggatttcatgCgacggcagattctcgagatg	10	11	13	7	3	2	5	1	3	1	2	3	8	2	6	0	2	1	1	0	2	0	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:49689519C>T	ENST00000296452.4	+	5	2644	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	844					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGATTTCATGCGACGGCAGAT	0.622													12	24					0	0	0	0	T	49689519	C	T	49689519	4	4	182	1	0	0	0	0	0	1	0	0	1538	760	27	1	2548	1	BSN	3	49689519	Nonsense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	4913223	49689519	148332911	34	31868											
DCP1A	55802	broad.mit.edu	37	chr3	53381537	53381537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccagctcgactcagcGcctccatcttgaatcccaga	8	8	7	18	2	2	2	1	1	1	1	5	3	4	2	5	0	3	1	5	0	1	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:53381537G>A	ENST00000607628.1	-	1	117	c.8C>T	c.(7-9)gCg>gTg	p.A3V	DCP1A_ENST00000294241.6_Missense_Mutation_p.A3V|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000606822.1_Missense_Mutation_p.A3V	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	3					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		TCGACTCAGCGCCTCCATCTT	0.622													7	44					0	0	0	0	A	53381537	G	A	53381537	3	1	182	1	0	0	0	0	1	0	0	0	4330	1087	38	1	1780	1	DCP1A	3	53381537	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	3692018	53381537	144640893	35	31869											
POLQ	10721	broad.mit.edu	37	chr3	121206399	121206399	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaatagggctgttgtctttGaacccatttctactccctgg	7	15	8	11	0	2	1	0	1	2	0	3	1	3	1	2	2	2	2	2	2	4	6			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:121206399G>A	ENST00000264233.5	-	16	5507	c.5379C>T	c.(5377-5379)ttC>ttT	p.F1793F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1793					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGTTGTCTTTGAACCCATTTC	0.378								DNA polymerases (catalytic subunits)					9	107					0	0	0	0	A	121206399	G	A	121206399	2	1	182	1	0	0	0	0	0	0	0	1	12280	1281	45	2		2	POLQ	3	121206399	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	67824862	121206399	76816031	36	31870											
GOLGB1	2804	broad.mit.edu	37	chr3	121410866	121410866	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttttgatggttttcagtgTttccataagctgattggttt	6	21	9	5	0	1	2	1	2	0	0	2	2	2	2	1	2	1	4	1	2	1	8			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:121410866T>C	ENST00000393667.3	-	14	7455	c.7345A>G	c.(7345-7347)Aca>Gca	p.T2449A	GOLGB1_ENST00000340645.5_Missense_Mutation_p.T2444A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2444					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTTTCAGTGTTTCCATAAGC	0.393													21	128					0	0	0	0	C	121410866	T	C	121410866	3	2	182	1	0	0	0	0	1	0	0	0	6613	1725	60	5	2485	5	GOLGB1	3	121410866	Missense_Mutation	SNP	T	TCGA-CR-6478-01A-11D-1870-08	204467	121410866	76611564	37	31871											
TFDP2	7029	broad.mit.edu	37	chr3	141692899	141692899	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcacttacctccagattCtgacattcctgagcagaatt	10	14	5	12	0	2	4	1	2	2	2	5	4	4	4	3	0	2	1	3	0	2	5			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr3:141692899C>T	ENST00000499676.2	-	8	1145	c.474G>A	c.(472-474)caG>caA	p.Q158Q	TFDP2_ENST00000486111.1_Silent_p.Q158Q|TFDP2_ENST00000479040.1_Silent_p.Q157Q|TFDP2_ENST00000477292.1_Silent_p.Q82Q|TFDP2_ENST00000495310.1_Silent_p.Q121Q|TFDP2_ENST00000489671.1_Silent_p.Q218Q|TFDP2_ENST00000317104.7_Silent_p.Q142Q|TFDP2_ENST00000310282.6_Silent_p.Q158Q|TFDP2_ENST00000467072.1_Silent_p.Q158Q|TFDP2_ENST00000397991.4_Silent_p.Q190Q	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	218					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						CCTCCAGATTCTGACATTCCT	0.303													31	82					0	0	0	0	T	141692899	C	T	141692899	2	4	182	1	0	0	0	0	0	0	0	1	15892	912	32	2		2	TFDP2	3	141692899	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	20282033	141692899	56329531	38	31872											
LRPAP1	4043	broad.mit.edu	37	chr4	3520617	3520617	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcggtcctgctcagggtCtccagcaggacgttgtactc	5	11	11	14	2	2	0	1	0	1	0	6	1	3	1	3	3	3	4	3	3	1	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:3520617C>T	ENST00000500728.2	-	4	719	c.573G>A	c.(571-573)gaG>gaA	p.E191E	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	191					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TGCTCAGGGTCTCCAGCAGGA	0.637													3	9					0	0	0	0	T	3520617	C	T	3520617	2	4	182	1	0	0	0	0	0	0	0	1	9028	912	32	2		2	LRPAP1	4	3520617	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08		3520617	187633659	39	31873											
ARAP2	116984	broad.mit.edu	37	chr4	36162102	36162102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatttaattcttctttggtGagagatgccaaaagagtttt	11	18	8	4	0	2	3	0	1	2	2	2	4	2	3	1	1	1	1	1	1	4	8			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:36162102G>A	ENST00000303965.4	-	13	2910	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	807	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTTCTTTGGTGAGAGATGCCA	0.289													3	36					0	0	0	0	A	36162102	G	A	36162102	2	1	182	1	0	0	0	0	0	0	0	1	841	1277	45	2		2	ARAP2	4	36162102	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	32641485	36162102	154992174	40	31874											
SLC30A9	10463	broad.mit.edu	37	chr4	42069198	42069198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccacttgcatgggccttaCttctataacaggtaaatatt	12	13	7	9	0	1	0	0	0	1	0	1	0	1	0	2	2	4	2	2	2	6	8			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:42069198C>T	ENST00000264451.6	+	14	1421	c.1241C>T	c.(1240-1242)aCt>aTt	p.T414I		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	414					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGGGCCTTACTTCTATAACA	0.333													5	146					0	0	0	0	T	42069198	C	T	42069198	3	4	182	1	0	0	0	0	1	0	0	0	14650	565	20	4	1295	4	SLC30A9	4	42069198	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	5907096	42069198	149085078	41	31875											
LRRC66	339977	broad.mit.edu	37	chr4	52861043	52861043	+	Silent	SNP	G	G	A																															cttgcactctctgaacttatGgagctcagagtgaacagaga																										TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:52861043G>A	ENST00000343457.3	-	4	2151	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	715						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTGAACTTATGGAGCTCAGAG	0.527													5	86					0	0	0	0	A	52861043	G	A	52861043	2	1	182	1	0	0	0	0	0	0	0	1	9082	1335	47	4		4	LRRC66	4	52861043	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	10791845	52861043	138293233	42	31876	240	2									
LRRC66	339977	broad.mit.edu	37	chr4	52861044	52861044	+	Missense_Mutation	SNP	G	G	A																															ttgcactctctgaacttatgGagctcagagtgaacagagac																										TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:52861044G>A	ENST00000343457.3	-	4	2150	c.2144C>T	c.(2143-2145)tCc>tTc	p.S715F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	715						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAACTTATGGAGCTCAGAGT	0.527													4	87					0	0	0	0	A	52861044	G	A	52861044	3	1	182	1	0	0	0	0	1	0	0	0	9082	1174	41	2	502	2	LRRC66	4	52861044	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	1	52861044	138293232	43	31877	240	2									
EPHA5	2044	broad.mit.edu	37	chr4	66197747	66197747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatccattttccatgaaaatCtctgtataccggcccatctt	10	15	4	12	1	2	1	0	1	2	0	5	1	4	1	4	1	1	1	4	1	5	6			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:66197747C>T	ENST00000273854.3	-	17	3552	c.2952G>A	c.(2950-2952)gaG>gaA	p.E984E	EPHA5_ENST00000354839.4_Silent_p.E962E|EPHA5_ENST00000511294.1_Silent_p.E985E|EPHA5_ENST00000432638.2_Silent_p.E821E	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	984	SAM.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCATGAAAATCTCTGTATACC	0.433										TSP Lung(17;0.13)			11	43					0	0	0	0	T	66197747	C	T	66197747	2	4	182	1	0	0	0	0	0	0	0	1	5208	912	32	2		2	EPHA5	4	66197747	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	13336703	66197747	124956529	44	31878											
CXCL10	3627	broad.mit.edu	37	chr4	76943923	76943923	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttggattaacaggttgatTactaatgctgatgcaggtac	11	13	10	7	0	0	2	0	2	0	0	0	3	0	3	1	3	5	4	1	3	4	6			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:76943923T>G	ENST00000306602.1	-	2	174	c.109A>C	c.(109-111)Aat>Cat	p.N37H	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	37					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACAGGTTGATTACTAATGCTG	0.408													4	81					0	0	0	0	G	76943923	T	G	76943923	3	3	182	1	0	0	0	0	1	0	0	0	4110	1754	61	5	199	5	CXCL10	4	76943923	Missense_Mutation	SNP	T	TCGA-CR-6478-01A-11D-1870-08	10746176	76943923	114210353	45	31879											
SEC31A	22872	broad.mit.edu	37	chr4	83774850	83774850	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctatctccttcattttcaAgcctggttcccaaaagatct	9	14	6	12	0	4	1	2	0	2	1	6	1	5	1	3	2	1	2	3	2	4	5			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:83774850A>G	ENST00000432794.1	-	18	2190	c.2027T>C	c.(2026-2028)cTt>cCt	p.L676P	SEC31A_ENST00000505984.1_Missense_Mutation_p.L637P|SEC31A_ENST00000509142.1_Missense_Mutation_p.L676P|SEC31A_ENST00000505472.1_Missense_Mutation_p.L676P|SEC31A_ENST00000500777.2_Missense_Mutation_p.L637P|SEC31A_ENST00000448323.1_Missense_Mutation_p.L676P|SEC31A_ENST00000508502.1_Missense_Mutation_p.L676P|SEC31A_ENST00000443462.2_Missense_Mutation_p.L671P|SEC31A_ENST00000311785.7_Missense_Mutation_p.L676P|SEC31A_ENST00000355196.2_Missense_Mutation_p.L676P|SEC31A_ENST00000348405.4_Missense_Mutation_p.L637P|SEC31A_ENST00000513858.1_Missense_Mutation_p.L637P|SEC31A_ENST00000264405.5_Missense_Mutation_p.L409P|SEC31A_ENST00000395310.2_Missense_Mutation_p.L676P|SEC31A_ENST00000508479.1_Missense_Mutation_p.L676P|SEC31A_ENST00000326950.5_Missense_Mutation_p.L637P			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	676					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTCATTTTCAAGCCTGGTTCC	0.378													14	40					0	0	0	0	G	83774850	A	G	83774850	3	3	182	1	0	0	0	0	1	0	0	0	14085	72	3	5	1675	5	SEC31A	4	83774850	Missense_Mutation	SNP	A	TCGA-CR-6478-01A-11D-1870-08	6830927	83774850	107379426	46	31880											
THAP9	79725	broad.mit.edu	37	chr4	83839313	83839313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagatacaaatttcaagatGaagtttttctaagcaaagta	17	12	6	6	0	2	3	1	1	1	2	2	3	2	3	1	0	2	3	1	0	7	6			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:83839313G>A	ENST00000302236.5	+	5	1999	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	650							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATTTCAAGATGAAGTTTTTCT	0.398													6	50					0	0	0	0	A	83839313	G	A	83839313	3	1	182	1	0	0	0	0	1	0	0	0	15945	1291	45	2	1966	2	THAP9	4	83839313	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	64463	83839313	107314963	47	31881											
COPS4	51138	broad.mit.edu	37	chr4	83989672	83989672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatggaatagttcattttGaaagtaagaggttttgtgta	12	17	11	1	0	1	3	1	2	0	1	1	4	1	4	0	2	0	4	0	2	5	9			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:83989672G>A	ENST00000264389.2	+	9	1219	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	COPS4_ENST00000503682.1_Missense_Mutation_p.E394K|COPS4_ENST00000511653.1_Missense_Mutation_p.E362K|COPS4_ENST00000509093.1_Intron	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	362	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AGTTCATTTTGAAAGTAAGAG	0.333													5	44					0	0	0	0	A	83989672	G	A	83989672	3	1	182	1	0	0	0	0	1	0	0	0	3765	1291	45	2	1118	2	COPS4	4	83989672	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	150359	83989672	107164604	48	31882											
TET2	54790	broad.mit.edu	37	chr4	106156428	106156428	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccaaccaaagtaacacAacacttttaagggaagtgaa	18	7	6	10	0	0	1	0	1	0	0	0	2	0	2	3	1	4	1	3	1	8	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr4:106156428A>G	ENST00000540549.1	+	3	2189	c.1329A>G	c.(1327-1329)acA>acG	p.T443T	TET2_ENST00000413648.2_Silent_p.T443T|TET2_ENST00000513237.1_Silent_p.T464T|TET2_ENST00000380013.4_Silent_p.T443T|TET2_ENST00000305737.2_Silent_p.T443T|TET2_ENST00000394764.1_Silent_p.T443T|TET2_ENST00000545826.1_Silent_p.T443T			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	443					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AAAGTAACACAACACTTTTAA	0.463			"Mis N, F"		MDS								22	45					0	0	0	0	G	106156428	A	G	106156428	2	3	182	1	0	0	0	0	0	0	0	1	15864	117	5	5		5	TET2	4	106156428	Silent	SNP	A	TCGA-CR-6478-01A-11D-1870-08	22166756	106156428	84997848	49	31883											
KIAA0947	23379	broad.mit.edu	37	chr5	5461426	5461426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtaatgatacagatattaCtactaaagtattctctactg	14	15	6	6	0	1	2	0	1	1	1	2	2	1	2	0	1	4	2	0	1	9	9			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:5461426C>A	ENST00000296564.7	+	13	2201	c.1979C>A	c.(1978-1980)aCt>aAt	p.T660N		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	660										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACAGATATTACTACTAAAGTA	0.393													16	62					4.7546e-09	5.18684e-09	1	0	A	5461426	C	A	5461426	3	1	182	1	0	0	0	0	1	0	0	0	8253	565	20	4	2029	4	KIAA0947	5	5461426	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08		5461426	175453834	50	31884											
ZFR	51663	broad.mit.edu	37	chr5	32407005	32407025	+	In_Frame_Del	DEL	GGCAGCTGTTGCAGCAGCAGC	GGCAGCTGTTGCAGCAGCAGC	-																															gtaaaggtggtccctgtccaGgcagctgttgcagcagcagc																										TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:32407005_32407025delGGCAGCTGTTGCAGCAGCAGC	ENST00000265069.8	-	6	988_1008	c.886_906delGCTGCTGCTGCAACAGCTGCC	c.(886-906)del	p.AAAATAA296del		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	296	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCCCTGTCCAGGCAgctgttgcagcagcagcagcagctgct	0.466													8	51	---	---	---	---					-	32407025	GGCAGCTGTTGCAGCAGCAGC	-	32407005	7	5	182	1	0	1	0	1	0	0	0	0	17754	987	35	0	2378	0	ZFR	5	32407005	In_Frame_Del	DEL	GGCAGCTGTTGCAGCAGCAGC	TCGA-CR-6478-01A-11D-1870-08	26945579	32407005	148508255	51	31885											
SEMA6A	57556	broad.mit.edu	37	chr5	115782989	115782989	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgggggaggcccgcaGgggcaggtccgtgggaatca	6	5	21	9	2	1	0	1	0	0	0	2	2	2	2	2	8	0	3	2	8	1	0			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:115782989G>A	ENST00000343348.6	-	19	3200	c.2413C>T	c.(2413-2415)Ctg>Ttg	p.L805L	SEMA6A_ENST00000503865.1_Silent_p.L184L|SEMA6A_ENST00000510263.1_Silent_p.L805L|SEMA6A_ENST00000282394.6_Silent_p.L282L|SEMA6A_ENST00000257414.8_Silent_p.L822L|SEMA6A_ENST00000513137.1_Silent_p.L232L	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	805	Pro-rich.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GAGGCCCGCAGGGGCAGGTCC	0.652													7	50					0	0	0	0	A	115782989	G	A	115782989	2	1	182	1	0	0	0	0	0	0	0	1	14126	991	35	4		4	SEMA6A	5	115782989	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	83375984	115782989	65132271	52	31886											
HSD17B4	3295	broad.mit.edu	37	chr5	118865640	118865640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcatatgtggatcttgcaCcaacatctggtacttcagct	10	13	8	10	0	3	0	1	0	2	0	3	1	3	1	1	2	5	4	1	2	3	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:118865640C>T	ENST00000504811.1	+	22	2078	c.1894C>T	c.(1894-1896)Cca>Tca	p.P632S	HSD17B4_ENST00000414835.2_Missense_Mutation_p.P467S|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000256216.6_Missense_Mutation_p.P607S|HSD17B4_ENST00000515320.1_Missense_Mutation_p.P589S|HSD17B4_ENST00000509514.1_Missense_Mutation_p.P345S|HSD17B4_ENST00000510025.1_Missense_Mutation_p.P583S|HSD17B4_ENST00000513628.1_Missense_Mutation_p.P470S	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	607	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GGATCTTGCACCAACATCTGG	0.363													7	70					0	0	0	0	T	118865640	C	T	118865640	3	4	182	1	0	0	0	0	1	0	0	0	7436	507	18	4	1901	4	HSD17B4	5	118865640	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	3082651	118865640	62049620	53	31887											
PCDHA4	56144	broad.mit.edu	37	chr5	140188443	140188443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtgttcgtgctggaCgaaaacgacaacgcgccagc	10	6	13	12	5	0	0	0	0	0	0	1	3	0	1	1	2	5	3	1	2	3	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr5:140188443C>T	ENST00000530339.1	+	1	1671	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Silent_p.D557D|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.D557D|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAAAACGACA	0.667													7	50					0	0	0	0	T	140188443	C	T	140188443	2	4	182	1	0	0	0	0	0	0	0	1	11597	535	19	1		1	PCDHA4	5	140188443	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	21322803	140188443	40726817	54	31888											
HIST1H2BB	3018	broad.mit.edu	37	chr6	26043662	26043662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcgagaagcctcgcccGcgatgcgctcgaagatgtcg	8	5	14	14	7	0	2	0	0	0	2	3	5	0	2	3	1	2	1	3	1	2	0			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:26043662G>A	ENST00000357905.2	-	1	223	c.224C>T	c.(223-225)gCg>gTg	p.A75V		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	75					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGCCTCGCCCGCGATGCGCTC	0.597													36	89					0	0	0	0	A	26043662	G	A	26043662	3	1	182	1	0	0	0	0	1	0	0	0	7191	1087	38	1	160	1	HIST1H2BB	6	26043662	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08		26043662	145071405	55	31889											
HIST1H2AG	8969	broad.mit.edu	37	chr6	27101060	27101060	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaactggcgggcaacgcGgcccgcgacaacaagaagac	12	2	14	13	5	0	2	0	0	0	2	0	4	0	3	1	4	3	1	1	4	5	0			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:27101060G>A	ENST00000359193.2	+	1	229	c.210G>A	c.(208-210)gcG>gcA	p.A70A		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	70					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						CGGGCAACGCGGCCCGCGACA	0.647													28	52					0	0	0	0	A	27101060	G	A	27101060	2	1	182	1	0	0	0	0	0	0	0	1	7183	1103	39	1		1	HIST1H2AG	6	27101060	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	1057398	27101060	144014007	56	31890											
OR2J2	26707	broad.mit.edu	37	chr6	29141562	29141562	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcatcatcatcctgtcAtacgtggactcccatctcca	8	13	5	15	1	5	0	4	0	1	0	8	1	7	1	3	1	1	1	3	1	1	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:29141562A>T	ENST00000377167.2	+	1	252	c.150A>T	c.(148-150)tcA>tcT	p.S50S		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCATCCTGTCATACGTGGACT	0.453													6	288					0	0	0	0	T	29141562	A	T	29141562	2	4	182	1	0	0	0	0	0	0	0	1	11074	204	8	5		5	OR2J2	6	29141562	Silent	SNP	A	TCGA-CR-6478-01A-11D-1870-08	2040502	29141562	141973505	57	31891											
DNAH8	1769	broad.mit.edu	37	chr6	38939413	38939413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggacaagaagtacatgctcGaaagctgattcagatgtcaa	16	8	10	7	1	2	3	2	1	0	2	3	5	2	4	0	1	3	3	0	1	5	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:38939413G>A	ENST00000359357.3	+	81	12100	c.11846G>A	c.(11845-11847)cGa>cAa	p.R3949Q	DNAH8_ENST00000449981.2_Missense_Mutation_p.R4166Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3913Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTACATGCTCGAAAGCTGATT	0.413													4	31					0	0	0	0	A	38939413	G	A	38939413	3	1	182	1	0	0	0	0	1	0	0	0	4643	1058	37	1	12160	1	DNAH8	6	38939413	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	9797851	38939413	132175654	58	31892											
HSP90AB1	3326	broad.mit.edu	37	chr6	44219502	44219502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgaagactccactaaccGccgccgcctgtctgagctgc	8	6	9	18	4	1	2	0	1	1	1	2	3	2	2	6	0	3	1	6	0	2	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:44219502G>A	ENST00000371554.1	+	9	1557	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R448H|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R448H			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	448					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	p.R448L(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCACTAACCGCCGCCGCCTG	0.468													10	103					0	0	0	0	A	44219502	G	A	44219502	3	1	182	1	0	0	0	0	1	0	0	0	7454	1087	38	1	1373	1	HSP90AB1	6	44219502	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	5280089	44219502	126895565	59	31893											
GSTA5	221357	broad.mit.edu	37	chr6	52701052	52701052	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggctctctccttcatgTctttcccataaaggttgtat	8	15	7	11	0	3	0	1	0	2	0	6	0	5	0	2	2	0	3	2	2	3	5			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:52701052T>C	ENST00000370989.1	-	4	412	c.254A>G	c.(253-255)gAc>gGc	p.D85G	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Missense_Mutation_p.D85G			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	85	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CTCCTTCATGTCTTTCCCATA	0.453													53	122					0	0	0	0	C	52701052	T	C	52701052	3	2	182	1	0	0	0	0	1	0	0	0	6884	1667	58	5	430	5	GSTA5	6	52701052	Missense_Mutation	SNP	T	TCGA-CR-6478-01A-11D-1870-08	8481550	52701052	118414015	60	31894											
FHL5	9457	broad.mit.edu	37	chr6	97052644	97052644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatctttgttacaaagacCggcactggcatgaaggatgc	12	9	12	8	1	1	2	0	1	1	1	1	4	1	4	1	4	2	3	1	4	3	2	rs145856574	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:97052644C>T	ENST00000326771.2	+	4	558	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	FHL5_ENST00000541107.1_Missense_Mutation_p.R60W	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	60	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TTACAAAGACCGGCACTGGCA	0.433													10	56					0	0	0	0	T	97052644	C	T	97052644	3	4	182	1	0	0	0	0	1	0	0	0	5926	643	23	1	184	1	FHL5	6	97052644	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	44351592	97052644	74062423	61	31895											
KLHL32	114792	broad.mit.edu	37	chr6	97414959	97414959	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtctgaacgctgcctcaGgtatgccctgtaggatatgt	7	11	12	11	2	2	1	1	1	1	0	2	2	2	2	3	2	3	3	3	2	4	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:97414959G>C	ENST00000369261.4	+	2	386	c.23_splice	c.e2+1	p.S8_splice	KLHL32_ENST00000539200.1_Splice_Site_p.S8_splice|KLHL32_ENST00000536676.1_Splice_Site_p.S8_splice|KLHL32_ENST00000544166.1_5'UTR	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	8										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CGCTGCCTCAGGTATGCCCTG	0.483													5	12					0	0	0	0	C	97414959	G	C	97414959	5	2	182	1	0	0	0	0	0	0	1	0	8438	1014	35	4	25	4	KLHL32	6	97414959	Splice_Site	SNP	G	TCGA-CR-6478-01A-11D-1870-08	362315	97414959	73700108	62	31896											
C6orf211	79624	broad.mit.edu	37	chr6	151785628	151785628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtatttaaagaatcaaaaGagcaaaatttctatgggtca	18	12	7	4	0	3	2	2	0	1	2	3	2	3	2	0	1	1	2	0	1	9	5			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr6:151785628G>A	ENST00000367294.3	+	4	692	c.433G>A	c.(433-435)Gag>Aag	p.E145K	C6orf211_ENST00000483931.1_3'UTR|C6orf211_ENST00000545879.1_Missense_Mutation_p.E26K	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	145							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		AGAATCAAAAGAGCAAAATTT	0.328													6	37					0	0	0	0	A	151785628	G	A	151785628	3	1	182	1	0	0	0	0	1	0	0	0	2375	943	33	2	447	2	C6orf211	6	151785628	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	54370669	151785628	19329439	63	31897											
VPS41	27072	broad.mit.edu	37	chr7	38796567	38796567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagagcattgccatagttCttgtcataggtgtacctggt	8	14	10	9	0	2	1	1	0	1	1	3	1	3	1	3	2	3	3	3	2	3	6			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:38796567C>T	ENST00000310301.4	-	19	1620	c.1566G>A	c.(1564-1566)aaG>aaA	p.K522K	VPS41_ENST00000395969.2_Silent_p.K497K	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	522					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	p.K522N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGCCATAGTTCTTGTCATAGG	0.299													7	48					0	0	0	0	T	38796567	C	T	38796567	2	4	182	1	0	0	0	0	0	0	0	1	17306	912	32	2		2	VPS41	7	38796567	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08		38796567	120342096	64	31898											
C7orf25	79020	broad.mit.edu	37	chr7	42950074	42950074	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtcttcagcctgctcaatGatgcttttgtcaccatattg	9	15	7	10	0	4	1	3	1	1	0	4	1	4	1	2	0	3	2	2	0	3	5			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:42950074G>A	ENST00000350427.4	-	2	701	c.426C>T	c.(424-426)atC>atT	p.I142I	C7orf25_ENST00000438029.1_Silent_p.I142I|C7orf25_ENST00000431882.2_Silent_p.I200I|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Silent_p.I142I			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	142										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CCTGCTCAATGATGCTTTTGT	0.507													7	101					0	0	0	0	A	42950074	G	A	42950074	2	1	182	1	0	0	0	0	0	0	0	1	2403	1280	45	2		2	C7orf25	7	42950074	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	4153507	42950074	116188589	65	31899											
LANCL2	55915	broad.mit.edu	37	chr7	55466318	55466318	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgagtcccaggaatgtgtCacaaagtgagttttagaact	12	12	11	6	0	1	3	1	2	0	1	2	4	2	4	1	1	1	1	1	1	4	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:55466318C>T	ENST00000254770.2	+	3	1103	c.525C>T	c.(523-525)gtC>gtT	p.V175V	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	175					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			AGGAATGTGTCACAAAGTGAG	0.463													8	40					0	0	0	0	T	55466318	C	T	55466318	2	4	182	1	0	0	0	0	0	0	0	1	8674	813	29	2		2	LANCL2	7	55466318	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	12516244	55466318	103672345	66	31900											
LRCH4	4034	broad.mit.edu	37	chr7	100179491	100179491	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggcagggattggagctcGttgctgctcacgtcctggta	6	10	16	9	2	1	0	1	0	0	0	3	3	2	2	1	4	3	6	1	4	1	3	rs149222783	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:100179491G>A	ENST00000497245.1	-	0	424				LRCH4_ENST00000310300.6_Silent_p.N169N			O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4						nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATTGGAGCTCGTTGCTGCTCA	0.612													5	81					0	0	0	0	A	100179491	G	A	100179491	1	1	182	1	0	0	0	0	0	0	0	0	8999	1136	40	1		1	LRCH4	7	100179491	Translation_Start_Site	SNP	G	TCGA-CR-6478-01A-11D-1870-08	44713173	100179491	58959172	67	31901											
TRIM56	81844	broad.mit.edu	37	chr7	100731849	100731849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatggagcccagacccCaaaagaggaaaaagcccaga	17	2	12	10	0	0	4	0	0	0	4	0	7	0	6	4	3	2	0	4	3	4	0			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:100731849C>T	ENST00000306085.6	+	3	1553	c.1256C>T	c.(1255-1257)cCa>cTa	p.P419L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	419					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCCAGACCCCAAAAGAGGAA	0.642													10	75					0	0	0	0	T	100731849	C	T	100731849	3	4	182	1	0	0	0	0	1	0	0	0	16625	594	21	4	1258	4	TRIM56	7	100731849	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	552358	100731849	58406814	68	31902											
PSMC2	5701	broad.mit.edu	37	chr7	103007958	103007958	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttgatcctagaggcaatAttaaagtgctgatggccact	11	13	10	7	0	0	3	0	2	0	1	1	3	1	3	2	2	1	3	2	2	5	5			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:103007958A>G	ENST00000435765.1	+	11	1354	c.943A>G	c.(943-945)Att>Gtt	p.I315V	PSMC2_ENST00000292644.3_Missense_Mutation_p.I315V|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.I178V|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	315					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TAGAGGCAATATTAAAGTGCT	0.443													59	39					0	0	0	0	G	103007958	A	G	103007958	3	3	182	1	0	0	0	0	1	0	0	0	12765	449	16	5	981	5	PSMC2	7	103007958	Missense_Mutation	SNP	A	TCGA-CR-6478-01A-11D-1870-08	2276109	103007958	56130705	69	31903											
PRSS1	5644	broad.mit.edu	37	chr7	142459743	142459743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggaagactctgaacaatGacatcatgttaatcaagctc	16	9	7	9	0	3	3	2	2	1	1	4	4	3	4	0	1	2	2	0	1	5	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr7:142459743G>A	ENST00000486171.1	+	4	378	c.361G>A	c.(361-363)Gac>Aac	p.D121N	PRSS1_ENST00000311737.7_Missense_Mutation_p.D107N			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	107	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCTGAACAATGACATCATGTT	0.552													17	86					0	0	0	0	A	142459743	G	A	142459743	3	1	182	1	0	0	0	0	1	0	0	0	12693	1290	45	2	329	2	PRSS1	7	142459743	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	39451785	142459743	16678920	70	31904											
FUT10	84750	broad.mit.edu	37	chr8	33246581	33246581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttgcactccccatttcCgttccctgagagctgtcaga	6	12	8	15	2	2	2	1	1	1	2	5	3	5	2	4	0	2	3	4	0	0	3	rs17855839		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr8:33246581C>T	ENST00000327671.5	-	4	1743	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	FUT10_ENST00000335589.3_Missense_Mutation_p.R309Q|FUT10_ENST00000524021.1_Missense_Mutation_p.R343Q|FUT10_ENST00000518672.1_Missense_Mutation_p.R343Q|FUT10_ENST00000518076.1_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	371			R -> P (in dbSNP:rs17855839).		embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCCCCATTTCCGTTCCCTGAG	0.478													37	98					0	0	0	0	T	33246581	C	T	33246581	3	4	182	1	0	0	0	0	1	0	0	0	6150	652	23	1	335	1	FUT10	8	33246581	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08		33246581	113117441	71	31905											
SOX17	64321	broad.mit.edu	37	chr8	55372417	55372417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgaacagtatctgcacttCgtgtgcaagcctgagatggg	9	12	12	8	1	1	2	0	2	1	1	2	3	1	2	1	1	4	3	1	1	3	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr8:55372417C>T	ENST00000297316.4	+	2	1311	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	369	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			ATCTGCACTTCGTGTGCAAGC	0.662													4	22					0	0	0	0	T	55372417	C	T	55372417	2	4	182	1	0	0	0	0	0	0	0	1	15035	883	31	1		1	SOX17	8	55372417	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	22125836	55372417	90991605	72	31906											
FER1L6	654463	broad.mit.edu	37	chr8	125113503	125113503	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatcttctctttagagaaGatggagtgtaagactcctgc	12	12	9	8	0	2	3	0	0	2	3	4	5	3	4	1	1	2	1	1	1	4	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr8:125113503G>A	ENST00000522917.1	+	38	5255	c.5049G>A	c.(5047-5049)aaG>aaA	p.K1683K	FER1L6_ENST00000399018.1_Silent_p.K1683K|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1683	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTTTAGAGAAGATGGAGTGTA	0.483													5	64					0	0	0	0	A	125113503	G	A	125113503	2	1	182	1	0	0	0	0	0	0	0	1	5860	933	33	2		2	FER1L6	8	125113503	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	69741086	125113503	21250519	73	31907											
RRAGA	10670	broad.mit.edu	37	chr9	19050493	19050493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggtcatgtcagatcCgtcgatcccttctgcggcca	6	11	12	12	3	3	1	2	0	1	1	6	3	5	1	3	3	1	0	3	3	0	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr9:19050493C>T	ENST00000380527.1	+	1	1122	c.836C>T	c.(835-837)cCg>cTg	p.P279L		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	279					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						ATGTCAGATCCGTCGATCCCT	0.512													8	134					0	0	0	0	T	19050493	C	T	19050493	3	4	182	1	0	0	0	0	1	0	0	0	13757	652	23	1	838	1	RRAGA	9	19050493	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08		19050493	122162938	74	31908											
RABEPK	10244	broad.mit.edu	37	chr9	127969967	127969967	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggagcaaatccaaacAgaagcttctcagacgtgcac	13	7	11	10	1	1	2	1	0	1	2	3	3	2	3	1	2	4	3	1	2	3	2	rs17855990		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr9:127969967A>G	ENST00000373544.1	+	4	344	c.178A>G	c.(178-180)Aga>Gga	p.R60G	RABEPK_ENST00000373538.3_Missense_Mutation_p.R60G|RABEPK_ENST00000259460.8_Missense_Mutation_p.R60G|RABEPK_ENST00000394125.4_Missense_Mutation_p.R60G|RABEPK_ENST00000394124.4_Missense_Mutation_p.R60G			Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	60			R -> G (in dbSNP:rs17855990).		receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						AAATCCAAACAGAAGCTTCTC	0.532													8	141					0	0	0	0	G	127969967	A	G	127969967	3	3	182	1	0	0	0	0	1	0	0	0	13045	180	7	5	184	5	RABEPK	9	127969967	Missense_Mutation	SNP	A	TCGA-CR-6478-01A-11D-1870-08	108919474	127969967	13243464	75	31909											
C9orf96	169436	broad.mit.edu	37	chr9	136260872	136260872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgctccagatcgacccctCggatcgaataacgataaagt	13	8	9	11	4	0	1	0	0	0	1	4	6	1	2	3	1	2	1	3	1	4	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr9:136260872C>T	ENST00000371957.3	+	9	955	c.848C>T	c.(847-849)tCg>tTg	p.S283L	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	283	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATCGACCCCTCGGATCGAATA	0.493													12	87					0	0	0	0	T	136260872	C	T	136260872	3	4	182	1	0	0	0	0	1	0	0	0	2533	893	31	1	882	1	C9orf96	9	136260872	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	8290905	136260872	4952559	76	31910											
KIAA1462	57608	broad.mit.edu	37	chr10	30316179	30316179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggctacctgccagctcGtccattccgttgctaacctc	7	11	8	15	2	0	0	0	0	0	0	4	0	2	0	5	1	5	4	5	1	3	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:30316179G>A	ENST00000375377.1	-	3	2999	c.2898C>T	c.(2896-2898)gaC>gaT	p.D966D		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	966										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGCCAGCTCGTCCATTCCGT	0.567													20	59					0	0	0	0	A	30316179	G	A	30316179	2	1	182	1	0	0	0	0	0	0	0	1	8285	1136	40	1		1	KIAA1462	10	30316179	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08		30316179	105218568	77	31911											
C10orf68	79741	broad.mit.edu	37	chr10	33094002	33094002	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttattaaatgatgaattcAagacacagtcaaagagtttc	16	12	7	6	0	2	4	2	2	0	2	3	4	2	4	0	0	0	2	0	0	6	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:33094002A>G	ENST00000375028.3	+	9	884	c.814A>G	c.(814-816)Aag>Gag	p.K272E	C10orf68_ENST00000375025.4_Missense_Mutation_p.K332E|C10orf68_ENST00000375030.2_Intron			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	296										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TGATGAATTCAAGACACAGTC	0.308													3	166					0	0	0	0	G	33094002	A	G	33094002	3	3	182	1	0	0	0	0	1	0	0	0	1623	131	5	5	920	5	C10orf68	10	33094002	Missense_Mutation	SNP	A	TCGA-CR-6478-01A-11D-1870-08	2777823	33094002	102440745	78	31912											
FAM13C	220965	broad.mit.edu	37	chr10	61022290	61022290	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagaggagcttggctccggGcccgcagcttccggtttccc	4	8	13	16	3	0	1	0	0	0	1	3	2	3	2	5	4	2	5	5	4	0	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:61022290G>A	ENST00000373867.3	-	11	1356	c.891C>T	c.(889-891)ggC>ggT	p.G297G	FAM13C_ENST00000435852.2_Silent_p.G380G|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000442566.3_Silent_p.G401G|FAM13C_ENST00000277705.6_Silent_p.G401G|FAM13C_ENST00000468840.2_Silent_p.G297G|FAM13C_ENST00000422313.2_Silent_p.G380G|FAM13C_ENST00000373868.2_Silent_p.G380G	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	380										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						TTGGCTCCGGGCCCGCAGCTT	0.547													7	64					0	0	0	0	A	61022290	G	A	61022290	2	1	182	1	0	0	0	0	0	0	0	1	5495	1190	42	4		4	FAM13C	10	61022290	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	27928288	61022290	74512457	79	31913											
ANKRD2	26287	broad.mit.edu	37	chr10	99340627	99340627	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagttccgtcggacagcaCtgcaccgagcttccctggaa	9	7	11	14	3	0	0	0	0	0	0	3	4	2	2	3	2	3	4	3	2	1	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:99340627C>T	ENST00000307518.5	+	5	820	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	ANKRD2_ENST00000455090.1_Silent_p.L158L|ANKRD2_ENST00000370655.1_Silent_p.L158L|ANKRD2_ENST00000298808.5_Silent_p.L185L			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	185					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		TCGGACAGCACTGCACCGAGC	0.627													3	9					0	0	0	0	T	99340627	C	T	99340627	2	4	182	1	0	0	0	0	0	0	0	1	647	564	20	4		4	ANKRD2	10	99340627	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	38318337	99340627	36194120	80	31914											
GOT1	2805	broad.mit.edu	37	chr10	101190305	101190305	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgcggaacctcggcaaaGactgacggaggtgccatatc	10	6	13	12	3	0	2	0	1	0	1	2	4	0	4	3	4	3	1	3	4	3	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:101190305G>A	ENST00000370508.5	-	1	45	c.18C>T	c.(16-18)gtC>gtT	p.V6V	GOT1_ENST00000471741.1_5'UTR	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	6					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCTCGGCAAAGACTGACGGAG	0.617													13	93					0	0	0	0	A	101190305	G	A	101190305	2	1	182	1	0	0	0	0	0	0	0	1	6627	929	33	2		2	GOT1	10	101190305	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	1849678	101190305	34344442	81	31915											
SORCS3	22986	broad.mit.edu	37	chr10	106899161	106899161	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccccacaatctaggtaacaActagtggaagagccagctac	14	6	8	13	0	1	1	0	0	1	1	1	2	1	2	3	2	5	2	3	2	7	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:106899161A>C	ENST00000369701.3	+	8	1446	c.1219A>C	c.(1219-1221)Act>Cct	p.T407P		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	407						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTAGGTAACAACTAGTGGAAG	0.458													10	91					0	0	0	0	C	106899161	A	C	106899161	3	2	182	1	0	0	0	0	1	0	0	0	15020	43	2	5	1249	5	SORCS3	10	106899161	Missense_Mutation	SNP	A	TCGA-CR-6478-01A-11D-1870-08	5708856	106899161	28635586	82	31916											
WDR11	55717	broad.mit.edu	37	chr10	122668114	122668114	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattatgcccggagtttgaaGaacctcggttttaagcaggg	10	11	13	7	2	0	2	0	1	0	1	1	4	0	3	2	3	3	3	2	3	4	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr10:122668114G>A	ENST00000263461.6	+	29	3810	c.3564G>A	c.(3562-3564)aaG>aaA	p.K1188K	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	1188						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GGAGTTTGAAGAACCTCGGTT	0.438													5	89					0	0	0	0	A	122668114	G	A	122668114	2	1	182	1	0	0	0	0	0	0	0	1	17369	933	33	2		2	WDR11	10	122668114	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	15768953	122668114	12866633	83	31917											
ART1	417	broad.mit.edu	37	chr11	3681285	3681285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgccaccaggtgttccGaggtgtgcacggcctgcgct	4	8	15	14	4	0	0	0	0	0	0	1	1	1	0	5	4	3	3	5	4	0	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:3681285G>T	ENST00000250693.1	+	3	637	c.536G>T	c.(535-537)cGa>cTa	p.R179L		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	179					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CAGGTGTTCCGAGGTGTGCAC	0.672													14	18					4.3838e-07	4.72859e-07	1	0	T	3681285	G	T	3681285	3	4	182	1	0	0	0	0	1	0	0	0	1001	1058	37	3	542	3	ART1	11	3681285	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08		3681285	131325231	84	31918											
TAF10	6881	broad.mit.edu	37	chr11	6633269	6633269	+	Frame_Shift_Del	DEL	C	C	-																															cagctgctccagccccaggtCcccccgctgtccccgcgggg																										TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:6633269delC	ENST00000299424.4	-	1	629	c.152delG	c.(151-153)gafs	p.G51fs	TAF10_ENST00000531760.1_Intron	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	51					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCCCCAGGTCCCCCCGCTGT	0.816													2	4	---	---	---	---					-	6633269	C	-	6633269	7	5	182	1	0	1	0	1	0	0	0	0	15605	855	30	0	524	0	TAF10	11	6633269	Frame_Shift_Del	DEL	C	TCGA-CR-6478-01A-11D-1870-08	2951984	6633269	128373247	85	31919											
MS4A4A	51338	broad.mit.edu	37	chr11	60059779	60059779	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgtgccccagctgggAaacatggctgtcatacattc	8	10	11	12	0	1	0	1	0	0	0	2	1	1	1	3	3	4	2	3	3	2	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:60059779A>T	ENST00000355131.3	+	3	289	c.66A>T	c.(64-66)ggA>ggT	p.G22G	MS4A4A_ENST00000532114.1_Silent_p.G41G|MS4A4A_ENST00000337908.4_Silent_p.G41G|MS4A4A_ENST00000395016.3_Silent_p.G22G	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	41						integral to membrane	receptor activity	p.G41G(1)|p.G22G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CCCAGCTGGGAAACATGGCTG	0.488													12	64					0	0	0	0	T	60059779	A	T	60059779	2	4	182	1	0	0	0	0	0	0	0	1	9932	233	9	5		5	MS4A4A	11	60059779	Silent	SNP	A	TCGA-CR-6478-01A-11D-1870-08	53426510	60059779	74946737	86	31920											
AHNAK	79026	broad.mit.edu	37	chr11	62294494	62294494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacatcccccttgattttGggtcctttgagatttagatc	7	16	7	11	0	0	3	0	2	0	2	4	4	3	3	4	1	0	0	4	1	1	6			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:62294494G>A	ENST00000378024.4	-	5	7669	c.7395C>T	c.(7393-7395)ccC>ccT	p.P2465P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2465					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTGATTTTGGGTCCTTTGA	0.443													23	216					0	0	0	0	A	62294494	G	A	62294494	2	1	182	1	0	0	0	0	0	0	0	1	414	1335	47	4		4	AHNAK	11	62294494	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	2234715	62294494	72712022	87	31921											
ADRBK1	156	broad.mit.edu	37	chr11	67052618	67052618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcgcaagtgcctgctcCtcaagatccgcggtgggaaa	10	6	14	11	3	1	1	1	0	0	1	3	3	3	3	3	3	3	2	3	3	3	0			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:67052618C>T	ENST00000308595.5	+	20	2154	c.1864C>T	c.(1864-1866)Ctc>Ttc	p.L622F	ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	622	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GTGCCTGCTCCTCAAGATCCG	0.647													21	303					0	0	0	0	T	67052618	C	T	67052618	3	4	182	1	0	0	0	0	1	0	0	0	343	681	24	4	1942	4	ADRBK1	11	67052618	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	4758124	67052618	67953898	88	31922											
SHANK2	22941	broad.mit.edu	37	chr11	70332040	70332040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagagttggttggttggctgGagttcaacgaaggggactga	9	10	17	5	1	1	2	1	1	0	1	1	5	1	4	0	6	1	5	0	6	2	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:70332040G>A	ENST00000338508.4	-	32	4360	c.4361C>T	c.(4360-4362)tCc>tTc	p.S1454F	SHANK2_ENST00000449833.2_Missense_Mutation_p.S858F|SHANK2_ENST00000423696.2_Missense_Mutation_p.S1074F|SHANK2_ENST00000409161.1_Missense_Mutation_p.S857F			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1074	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGTTGGCTGGAGTTCAACGA	0.547													8	297					0	0	0	0	A	70332040	G	A	70332040	3	1	182	1	0	0	0	0	1	0	0	0	14353	1174	41	2	1199	2	SHANK2	11	70332040	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	3279422	70332040	64674476	89	31923											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71276860	71276860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccaagggggactgtggctCttgtgggggctccaaagggg	6	8	18	9	0	1	0	0	0	1	0	3	1	3	1	2	7	0	2	2	7	2	1	rs36179995		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:71276860C>G	ENST00000398531.1	+	1	252	c.227C>G	c.(226-228)tCt>tGt	p.S76C	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	76	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GACTGTGGCTCTTGTGGGGGC	0.677													94	273					0	0	0	0	G	71276860	C	G	71276860	3	3	182	1	0	0	0	0	1	0	0	0	8612	913	32	2	229	2	KRTAP5-10	11	71276860	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	944820	71276860	63729656	90	31924											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71277239	71277239	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtgctgccagtgtaagatCtgaggctctgaacccagacc	9	9	12	11	0	2	4	0	2	2	2	2	4	2	4	3	1	3	3	3	1	2	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:71277239C>G	ENST00000398531.1	+	1	631	c.606C>G	c.(604-606)atC>atG	p.I202M	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	202						keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						AGTGTAAGATCTGAGGCTCTG	0.542													86	136					0	0	0	0	G	71277239	C	G	71277239	3	3	182	1	0	0	0	0	1	0	0	0	8612	903	32	2	608	2	KRTAP5-10	11	71277239	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	379	71277239	63729277	91	31925											
FAT3	120114	broad.mit.edu	37	chr11	92624271	92624271	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagactcagcatcagactCaagtgtagacatcacatctt	13	10	8	10	0	5	3	4	0	1	3	5	4	5	3	0	1	1	2	0	1	2	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:92624271C>T	ENST00000298047.6	+	27	13779	c.13762C>T	c.(13762-13764)Caa>Taa	p.Q4588*	FAT3_ENST00000533797.1_Nonsense_Mutation_p.Q891*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Q4438*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.Q4556*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4588					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCATCAGACTCAAGTGTAGAC	0.507										TCGA Ovarian(4;0.039)			11	16					0	0	0	0	T	92624271	C	T	92624271	4	4	182	1	0	0	0	0	0	1	0	0	5736	827	29	2	13764	2	FAT3	11	92624271	Nonsense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	21347032	92624271	42382245	92	31926											
ZC3H12C	85463	broad.mit.edu	37	chr11	110036199	110036199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagacttattccttgcccGataactccacacagccgtgt	9	10	8	14	2	0	1	0	0	0	1	2	2	2	1	4	1	3	1	4	1	2	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:110036199G>A	ENST00000453089.2	+	5	3177	c.2296G>A	c.(2296-2298)Gat>Aat	p.D766N	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D798N|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D797N			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	797							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTCCTTGCCCGATAACTCCAC	0.572													3	40					0	0	0	0	A	110036199	G	A	110036199	3	1	182	1	0	0	0	0	1	0	0	0	17658	1058	37	1	2411	1	ZC3H12C	11	110036199	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	17411928	110036199	24970317	93	31927											
NTM	50863	broad.mit.edu	37	chr11	132081943	132081943	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaattgtagagatttcttCagatatctccattaatgaag	15	14	6	6	0	3	3	1	1	2	2	4	4	3	3	1	0	0	1	1	0	6	6			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr11:132081943C>G	ENST00000374786.1	+	3	907	c.428C>G	c.(427-429)tCa>tGa	p.S143*	NTM_ENST00000427481.2_Nonsense_Mutation_p.S134*|NTM_ENST00000539799.1_Nonsense_Mutation_p.S143*|NTM_ENST00000425719.2_Nonsense_Mutation_p.S143*|NTM_ENST00000374784.1_Nonsense_Mutation_p.S143*|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Nonsense_Mutation_p.S143*	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	143	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GAGATTTCTTCAGATATCTCC	0.393													7	59					0	0	0	0	G	132081943	C	G	132081943	4	3	182	1	0	0	0	0	0	1	0	0	10770	838	29	2	524	2	NTM	11	132081943	Nonsense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	22045744	132081943	2924573	94	31928											
WBP11	51729	broad.mit.edu	37	chr12	14949890	14949890	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgcagctttttacgcttgtCtttcagtactttctcattta	7	19	5	10	2	3	0	2	0	2	0	4	0	3	0	0	0	3	4	0	0	3	9			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:14949890C>G	ENST00000261167.2	-	5	471	c.238G>C	c.(238-240)Gac>Cac	p.D80H	WBP11_ENST00000537574.1_Missense_Mutation_p.D80H	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	80					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TTACGCTTGTCTTTCAGTACT	0.343													27	37					0	0	0	0	G	14949890	C	G	14949890	3	3	182	1	0	0	0	0	1	0	0	0	17354	913	32	2	1719	2	WBP11	12	14949890	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08		14949890	118902005	95	31929											
PDE3A	5139	broad.mit.edu	37	chr12	20799470	20799470	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttacatgctgtttggtaTcttactacacagcctattcc	8	17	6	10	0	1	0	0	0	1	0	2	0	2	0	2	1	5	4	2	1	5	8			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:20799470T>C	ENST00000359062.3	+	11	2338	c.2298T>C	c.(2296-2298)taT>taC	p.Y766Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	766	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGTTTGGTATCTTACTACAC	0.413													12	51					0	0	0	0	C	20799470	T	C	20799470	2	2	182	1	0	0	0	0	0	0	0	1	11708	1442	50	5		5	PDE3A	12	20799470	Silent	SNP	T	TCGA-CR-6478-01A-11D-1870-08	5849580	20799470	113052425	96	31930											
YARS2	51067	broad.mit.edu	37	chr12	32900172	32900172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttataatgtagaaatttCtttttcctattttaagtaag	13	21	4	3	0	1	1	0	0	1	1	2	1	2	1	1	0	0	2	1	0	7	11			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:32900172C>T	ENST00000324868.8	-	5	1427	c.1400G>A	c.(1399-1401)aGa>aAa	p.R467K	YARS2_ENST00000551673.1_5'UTR	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	467					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GTAGAAATTTCTTTTTCCTAT	0.338													19	30					0	0	0	0	T	32900172	C	T	32900172	3	4	182	1	0	0	0	0	1	0	0	0	17564	913	32	2	37	2	YARS2	12	32900172	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	12100702	32900172	100951723	97	31931											
KIF21A	55605	broad.mit.edu	37	chr12	39726145	39726145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttatctccctctccattCtccttgactatcttctccct	4	20	1	16	0	5	1	0	1	5	0	9	1	5	1	4	0	0	0	4	0	2	7			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:39726145C>T	ENST00000395670.3	-	21	3341	c.2922G>A	c.(2920-2922)gaG>gaA	p.E974E	KIF21A_ENST00000361961.3_Silent_p.E961E|KIF21A_ENST00000361418.5_Silent_p.E974E|KIF21A_ENST00000544797.2_Silent_p.E961E|KIF21A_ENST00000541463.2_Silent_p.E938E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	974					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCTCTCCATTCTCCTTGACTA	0.373													12	149					0	0	0	0	T	39726145	C	T	39726145	2	4	182	1	0	0	0	0	0	0	0	1	8339	912	32	2		2	KIF21A	12	39726145	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	6825973	39726145	94125750	98	31932											
LRRK2	120892	broad.mit.edu	37	chr12	40651163	40651163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggctgtaaaatgctaaatCatctttttgaaggaaggtaa	14	13	10	4	0	2	1	1	1	1	0	2	2	2	2	0	3	1	4	0	3	7	5			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:40651163C>T	ENST00000298910.7	+	12	1460	c.1402C>T	c.(1402-1404)Cat>Tat	p.H468Y	LRRK2_ENST00000343742.2_Missense_Mutation_p.H468Y	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	468					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AATGCTAAATCATCTTTTTGA	0.318													13	120					0	0	0	0	T	40651163	C	T	40651163	3	4	182	1	0	0	0	0	1	0	0	0	9097	826	29	2	1448	2	LRRK2	12	40651163	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	925018	40651163	93200732	99	31933											
KRR1	11103	broad.mit.edu	37	chr12	75905362	75905362	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttttctggccgctccaGcgagggagacgccatttgca	6	10	12	13	3	1	1	0	0	1	1	2	3	2	1	4	2	2	2	4	2	0	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:75905362G>A	ENST00000229214.4	-	1	39	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	KRR1_ENST00000438169.2_Silent_p.L6L	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	6					rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GGCCGCTCCAGCGAGGGAGAC	0.527													6	69					0	0	0	0	A	75905362	G	A	75905362	2	1	182	1	0	0	0	0	0	0	0	1	8498	962	34	4		4	KRR1	12	75905362	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	35254199	75905362	57946533	100	31934											
PPFIA2	8499	broad.mit.edu	37	chr12	81839428	81839428	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgagggagactgggcttgCcgttttaccaccgtcattct	6	12	11	12	2	2	2	1	1	1	1	2	3	2	2	4	2	2	2	4	2	1	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:81839428C>T	ENST00000550584.2	-	5	772	c.477G>A	c.(475-477)cgG>cgA	p.R159R	PPFIA2_ENST00000443686.3_Silent_p.R85R|PPFIA2_ENST00000548586.1_Silent_p.R159R|PPFIA2_ENST00000545296.2_5'UTR|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000550359.2_Silent_p.R6R|PPFIA2_ENST00000549325.1_Silent_p.R141R|PPFIA2_ENST00000333447.7_Silent_p.R141R|PPFIA2_ENST00000407050.4_Silent_p.R85R|PPFIA2_ENST00000549396.1_Silent_p.R159R|PPFIA2_ENST00000552948.1_Silent_p.R159R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	85								p.R159R(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACTGGGCTTGCCGTTTTACCA	0.428													3	48					0	0	0	0	T	81839428	C	T	81839428	2	4	182	1	0	0	0	0	0	0	0	1	12381	726	26	4		4	PPFIA2	12	81839428	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	5934066	81839428	52012467	101	31935											
STAB2	55576	broad.mit.edu	37	chr12	104067821	104067821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgggccctacgtgcagttCtgtcacatccacgccacctg	6	10	10	15	2	2	0	1	0	1	0	3	0	3	0	4	1	2	2	4	1	1	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:104067821C>T	ENST00000388887.2	+	23	2712	c.2508C>T	c.(2506-2508)ttC>ttT	p.F836F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	836	EGF-like 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACGTGCAGTTCTGTCACATCC	0.562													23	53					0	0	0	0	T	104067821	C	T	104067821	2	4	182	1	0	0	0	0	0	0	0	1	15328	912	32	2		2	STAB2	12	104067821	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	22228393	104067821	29784074	102	31936											
USP30	84749	broad.mit.edu	37	chr12	109522853	109522853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcagcgccgatgcccttcCctctcccagttgttcccgac	4	11	8	18	3	2	0	1	0	1	0	5	2	4	0	5	0	2	2	5	0	0	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr12:109522853C>T	ENST00000257548.5	+	12	1357	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	USP30_ENST00000392784.2_Missense_Mutation_p.P391S	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	422					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GATGCCCTTCCCTCTCCCAGT	0.502													29	283					0	0	0	0	T	109522853	C	T	109522853	3	4	182	1	0	0	0	0	1	0	0	0	17157	623	22	4	1310	4	USP30	12	109522853	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	5455032	109522853	24329042	103	31937											
FNDC3A	22862	broad.mit.edu	37	chr13	49742771	49742771	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaggcagaatataattctAtaaagggaactccttcagag	15	10	8	8	0	2	2	1	0	1	2	4	3	4	3	2	2	1	1	2	2	7	6			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr13:49742771A>G	ENST00000492622.2	+	10	1365	c.1060A>G	c.(1060-1062)Ata>Gta	p.I354V	FNDC3A_ENST00000541916.1_Missense_Mutation_p.I354V|FNDC3A_ENST00000398316.3_Missense_Mutation_p.I298V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	354	Fibronectin type-III 1.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATATAATTCTATAAAGGGAAC	0.368													24	56					0	0	0	0	G	49742771	A	G	49742771	3	3	182	1	0	0	0	0	1	0	0	0	6014	449	16	5	1105	5	FNDC3A	13	49742771	Missense_Mutation	SNP	A	TCGA-CR-6478-01A-11D-1870-08		49742771	65427107	104	31938											
SLC35F4	341880	broad.mit.edu	37	chr14	58056063	58056063	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgggcaatagaagttcttaTaagtaatttttacaatctgt	14	16	7	4	0	2	1	0	0	2	1	2	1	2	1	0	1	1	3	0	1	8	8			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr14:58056063T>C	ENST00000556826.1	-	3	694	c.458A>G	c.(457-459)tAt>tGt	p.Y153C	SLC35F4_ENST00000554729.1_Missense_Mutation_p.Y30C|SLC35F4_ENST00000339762.6_Missense_Mutation_p.Y189C	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAAGTTCTTATAAGTAATTTT	0.393													18	32					0	0	0	0	C	58056063	T	C	58056063	3	2	182	1	0	0	0	0	1	0	0	0	14679	1406	49	5	1023	5	SLC35F4	14	58056063	Missense_Mutation	SNP	T	TCGA-CR-6478-01A-11D-1870-08		58056063	49293477	105	31939											
RYR3	6263	broad.mit.edu	37	chr15	33916108	33916108	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttccaaaagagaagatgAgattggagcctgtcaaagaa	17	8	10	6	0	1	4	1	1	0	4	2	7	2	5	2	1	2	0	2	1	6	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr15:33916108A>G	ENST00000389232.4	+	20	2528	c.2458A>G	c.(2458-2460)Aga>Gga	p.R820G	RYR3_ENST00000415757.3_Missense_Mutation_p.R820G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	820					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAGAAGATGAGATTGGAGCC	0.488													24	95					0	0	0	0	G	33916108	A	G	33916108	3	3	182	1	0	0	0	0	1	0	0	0	13855	296	11	5	2536	5	RYR3	15	33916108	Missense_Mutation	SNP	A	TCGA-CR-6478-01A-11D-1870-08		33916108	68615284	106	31940											
SLC12A6	9990	broad.mit.edu	37	chr15	34526146	34526146	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggactcgctctagtcccTcggtaagcacctctaggaac	9	9	10	13	2	2	0	0	0	2	0	5	2	3	2	2	3	2	4	2	3	5	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr15:34526146T>A	ENST00000354181.3	-	26	3881	c.3389A>T	c.(3388-3390)gAg>gTg	p.E1130V	SLC12A6_ENST00000458406.2_Missense_Mutation_p.E1071V|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E1071V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E1130V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E1079V|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E1130V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.E942V|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E1115V|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E1121V|SLC12A6_ENST00000560164.1_Missense_Mutation_p.E942V			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1130					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTCTAGTCCCTCGGTAAGCAC	0.453													10	59					0	0	0	0	A	34526146	T	A	34526146	3	1	182	1	0	0	0	0	1	0	0	0	14475	1551	54	5	67	5	SLC12A6	15	34526146	Missense_Mutation	SNP	T	TCGA-CR-6478-01A-11D-1870-08	610038	34526146	68005246	107	31941											
DUOX1	53905	broad.mit.edu	37	chr15	45445673	45445673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctggcctcttccatgatGatgggtgagtaagtgcgaat	8	13	12	8	1	1	3	0	3	1	0	3	4	3	3	3	2	1	1	3	2	2	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr15:45445673G>A	ENST00000321429.4	+	27	3927	c.3520G>A	c.(3520-3522)Gat>Aat	p.D1174N	DUOX1_ENST00000389037.3_Missense_Mutation_p.D1174N|DUOX1_ENST00000559221.1_3'UTR|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.D820N	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1174	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTTCCATGATGATGGGTGAGT	0.507													18	106					0	0	0	0	A	45445673	G	A	45445673	3	1	182	1	0	0	0	0	1	0	0	0	4836	1290	45	2	3618	2	DUOX1	15	45445673	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	10919527	45445673	57085719	108	31942											
NTN3	4917	broad.mit.edu	37	chr16	2522266	2522266	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggcccagcctgatggcagCggccttctggccttcagcat	5	9	12	15	1	2	1	1	1	1	0	2	1	2	1	4	4	3	2	4	4	0	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:2522266C>T	ENST00000293973.1	+	1	767	c.564C>T	c.(562-564)agC>agT	p.S188S		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	188	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CTGATGGCAGCGGCCTTCTGG	0.697													5	16					0	0	0	0	T	2522266	C	T	2522266	2	4	182	1	0	0	0	0	0	0	0	1	10772	767	27	1		1	NTN3	16	2522266	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08		2522266	87832487	109	31943											
ZNF597	146434	broad.mit.edu	37	chr16	3486915	3486915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggtgttttcagcactgtGgcttttctgatgctgtgcca	5	16	12	8	0	2	1	1	1	1	0	2	1	2	1	1	2	3	5	1	2	1	5			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:3486915G>A	ENST00000301744.4	-	4	1019	c.784C>T	c.(784-786)Cac>Tac	p.H262Y	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TCAGCACTGTGGCTTTTCTGA	0.438													14	120					0	0	0	0	A	3486915	G	A	3486915	3	1	182	1	0	0	0	0	1	0	0	0	18122	1348	47	4	494	4	ZNF597	16	3486915	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	964649	3486915	86867838	110	31944											
CREBBP	1387	broad.mit.edu	37	chr16	3786770	3786770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggcaatggaagatgtaatCatctccttcacttggaggac	11	11	11	8	0	3	1	2	0	1	1	4	4	3	4	1	4	0	2	1	4	3	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:3786770C>T	ENST00000262367.5	-	27	5250	c.4441G>A	c.(4441-4443)Gat>Aat	p.D1481N	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1443N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1481	Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGATGTAATCATCTCCTTCA	0.527			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						28	133					0	0	0	0	T	3786770	C	T	3786770	3	4	182	1	0	0	0	0	1	0	0	0	3891	826	29	2	2907	2	CREBBP	16	3786770	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	299855	3786770	86567983	111	31945											
SETD1A	9739	broad.mit.edu	37	chr16	30977192	30977192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgactttgtgaactccttgGagctcatggaccgacttggg	8	12	12	9	1	1	2	1	2	0	0	2	5	2	4	2	3	2	1	2	3	1	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:30977192G>A	ENST00000262519.8	+	8	2676	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GAACTCCTTGGAGCTCATGGA	0.622													10	89					0	0	0	0	A	30977192	G	A	30977192	3	1	182	1	0	0	0	0	1	0	0	0	14217	1175	41	2	2016	2	SETD1A	16	30977192	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	27190422	30977192	59377561	112	31946											
ACD	65057	broad.mit.edu	37	chr16	67692699	67692699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgcacagcattgagctgggGacagtgtacacagcttctcc	10	9	11	11	0	1	1	0	1	1	0	2	2	1	2	1	2	5	5	1	2	1	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:67692699G>A	ENST00000219251.8	-	8	1246	c.915C>T	c.(913-915)gtC>gtT	p.V305V	ACD_ENST00000393919.4_Silent_p.V308V	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	308	Interaction with POT1.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTGAGCTGGGGACAGTGTACA	0.552													9	51					0	0	0	0	A	67692699	G	A	67692699	2	1	182	1	0	0	0	0	0	0	0	1	135	1161	41	2		2	ACD	16	67692699	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	36715507	67692699	22662054	113	31947											
RANBP10	57610	broad.mit.edu	37	chr16	67778207	67778207	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaccaaggctgtggccattCttggtgtagaagcaggtgcc	9	9	13	10	0	1	1	0	0	1	1	1	1	1	1	3	4	2	3	3	4	3	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr16:67778207C>T	ENST00000317506.3	-	4	667	c.552G>A	c.(550-552)aaG>aaA	p.K184K	RANBP10_ENST00000602677.1_Silent_p.K184K|RANBP10_ENST00000425512.2_Silent_p.K52K|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000448631.2_Intron|RANBP10_ENST00000411657.2_Silent_p.K67K|RANBP10_ENST00000536251.1_5'UTR	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	184	B30.2/SPRY.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TGTGGCCATTCTTGGTGTAGA	0.582													6	70					0	0	0	0	T	67778207	C	T	67778207	2	4	182	1	0	0	0	0	0	0	0	1	13108	912	32	2		2	RANBP10	16	67778207	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	85508	67778207	22576546	114	31948											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840605	1840605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggctgaggttgaccaggtCcacgaagatgtcgtcctgga	8	9	15	9	2	0	3	0	2	0	1	3	5	2	4	3	4	0	2	3	4	1	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:1840605C>T	ENST00000331238.5	-	2	529	c.511G>A	c.(511-513)Gac>Aac	p.D171N		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	171					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TTGACCAGGTCCACGAAGATG	0.627													7	44					0	0	0	0	T	1840605	C	T	1840605	3	4	182	1	0	0	0	0	1	0	0	0	13816	855	30	2	818	2	RTN4RL1	17	1840605	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08		1840605	79354605	115	31949											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	41					0	0	0	0	C	7578394	T	C	7578394	3	2	182	1	0	0	0	0	1	0	0	0	16476	1464	51	5	762	5	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-CR-6478-01A-11D-1870-08	5737789	7578394	73616816	116	31950											
TP53I13	90313	broad.mit.edu	37	chr17	27896356	27896356	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcaccaagagtgacctaCacacgagtgagcccagggca	12	5	12	12	1	1	3	1	2	0	1	1	4	1	3	3	1	2	1	3	1	2	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:27896356C>T	ENST00000301057.7	+	3	277	c.162C>T	c.(160-162)taC>taT	p.Y54Y	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	54						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GAGTGACCTACACACGAGTGA	0.622													5	29					0	0	0	0	T	27896356	C	T	27896356	2	4	182	1	0	0	0	0	0	0	0	1	16481	489	17	4		4	TP53I13	17	27896356	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	20317962	27896356	53298854	117	31951											
TADA2A	6871	broad.mit.edu	37	chr17	35825582	35825582	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaggacctgtatgaaacaAtgaggcgatttgcaagaatt	14	10	10	7	1	0	3	0	2	0	1	1	5	1	4	2	2	2	2	2	2	5	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:35825582A>G	ENST00000394395.2	+	11	933	c.760A>G	c.(760-762)Atg>Gtg	p.M254V	TADA2A_ENST00000586023.1_Missense_Mutation_p.M254V|TADA2A_ENST00000417170.1_Missense_Mutation_p.M254V|TADA2A_ENST00000225396.6_Missense_Mutation_p.M254V|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	254					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						GTATGAAACAATGAGGCGATT	0.433													37	103					0	0	0	0	G	35825582	A	G	35825582	3	3	182	1	0	0	0	0	1	0	0	0	15601	101	4	5	798	5	TADA2A	17	35825582	Missense_Mutation	SNP	A	TCGA-CR-6478-01A-11D-1870-08	7929226	35825582	45369628	118	31952											
TNS4	84951	broad.mit.edu	37	chr17	38638646	38638646	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactcgatgaggaagtgtcgGatgaggtcattgctgtcctc	8	11	14	8	2	1	2	1	2	0	0	5	6	2	4	1	3	1	1	1	3	1	1	rs147623676	byFrequency	TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:38638646G>T	ENST00000254051.6	-	7	1682	c.1524C>A	c.(1522-1524)atC>atA	p.I508I		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	508	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGAAGTGTCGGATGAGGTCAT	0.572													11	59					7.03913e-09	7.63566e-09	1	0	T	38638646	G	T	38638646	2	4	182	1	0	0	0	0	0	0	0	1	16439	1164	41	2		2	TNS4	17	38638646	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	2813064	38638646	42556564	119	31953											
KCNH4	23415	broad.mit.edu	37	chr17	40327728	40327728	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggccggactgggacacatAggtggtgcggaagttcagga	9	7	17	8	2	1	0	1	0	0	0	1	4	1	4	1	7	1	1	1	7	2	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:40327728A>G	ENST00000264661.3	-	6	1188	c.856T>C	c.(856-858)Tat>Cat	p.Y286H	KCNH4_ENST00000607371.1_Missense_Mutation_p.Y286H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	286					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGGACACATAGGTGGTGCGG	0.552													3	139					0	0	0	0	G	40327728	A	G	40327728	3	3	182	1	0	0	0	0	1	0	0	0	8087	420	15	5	2241	5	KCNH4	17	40327728	Missense_Mutation	SNP	A	TCGA-CR-6478-01A-11D-1870-08	1689082	40327728	40867482	120	31954											
MPP2	4355	broad.mit.edu	37	chr17	41956730	41956730	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggcctcgatgaacacCacgtaagggacaaactcggc	11	6	12	12	3	1	1	0	1	1	0	3	3	1	2	2	4	2	1	2	4	3	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:41956730C>A	ENST00000269095.4	-	12	1699	c.1395G>T	c.(1393-1395)gtG>gtT	p.V465V	MPP2_ENST00000461854.1_Silent_p.V489V|MPP2_ENST00000520305.1_Silent_p.V326V|MPP2_ENST00000518766.1_Silent_p.V510V|MPP2_ENST00000523501.1_Silent_p.V454V|MPP2_ENST00000377184.3_Silent_p.V482V|MPP2_ENST00000536246.1_Silent_p.V454V	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	489	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CGATGAACACCACGTAAGGGA	0.582													18	78					5.3912e-06	5.71885e-06	1	0	A	41956730	C	A	41956730	2	1	182	1	0	0	0	0	0	0	0	1	9804	581	21	4		4	MPP2	17	41956730	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	1629002	41956730	39238480	121	31955											
EPN3	55040	broad.mit.edu	37	chr17	48618855	48618855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttggagaccccagccccaGttccaagcaaaatggcacga	12	6	10	13	1	0	1	0	0	0	1	1	3	1	1	5	2	2	4	5	2	3	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:48618855G>A	ENST00000268933.3	+	9	1964	c.1385G>A	c.(1384-1386)aGt>aAt	p.S462N	EPN3_ENST00000537145.1_Missense_Mutation_p.S490N|EPN3_ENST00000541226.1_3'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	462						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCCAGCCCCAGTTCCAAGCAA	0.577													6	50					0	0	0	0	A	48618855	G	A	48618855	3	1	182	1	0	0	0	0	1	0	0	0	5225	1029	36	4	1415	4	EPN3	17	48618855	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	6662125	48618855	32576355	122	31956											
TEX2	55852	broad.mit.edu	37	chr17	62291153	62291153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggagagctagctaagggcCccgacgaagacgaccctggg	10	4	16	11	3	0	2	0	0	0	2	0	6	0	2	3	3	2	2	3	3	3	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr17:62291153C>T	ENST00000258991.3	-	2	509	c.425G>A	c.(424-426)gGg>gAg	p.G142E	TEX2_ENST00000583097.1_Missense_Mutation_p.G142E|TEX2_ENST00000584379.1_Missense_Mutation_p.G142E			Q8IWB9	TEX2_HUMAN	testis expressed 2	142					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGCTAAGGGCCCCGACGAAGA	0.527													11	109					0	0	0	0	T	62291153	C	T	62291153	3	4	182	1	0	0	0	0	1	0	0	0	15875	623	22	4	3023	4	TEX2	17	62291153	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	13672298	62291153	18904057	123	31957											
EPB41L3	23136	broad.mit.edu	37	chr18	5397374	5397374	+	Missense_Mutation	SNP	G	G	C																															agtgctaagcggcaggtggtGcacggtgggttccgtctcta																										TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:5397374G>C	ENST00000341928.2	-	18	2864	c.2524C>G	c.(2524-2526)Cac>Gac	p.H842D	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.H147D|EPB41L3_ENST00000427684.2_Missense_Mutation_p.H139D|EPB41L3_ENST00000544123.1_Missense_Mutation_p.H673D|EPB41L3_ENST00000540638.2_Missense_Mutation_p.H620D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.H620D|EPB41L3_ENST00000342933.3_Missense_Mutation_p.H842D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	842	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGCAGGTGGTGCACGGTGGGT	0.567													14	52					0	0	0	0	C	5397374	G	C	5397374	3	2	182	1	0	0	0	0	1	0	0	0	5192	1319	46	4	759	4	EPB41L3	18	5397374	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08		5397374	72679874	124	31958	241	2									
EPB41L3	23136	broad.mit.edu	37	chr18	5397375	5397375	+	Silent	SNP	C	C	A																															gtgctaagcggcaggtggtgCacggtgggttccgtctctat																										TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:5397375C>A	ENST00000341928.2	-	18	2863	c.2523G>T	c.(2521-2523)gtG>gtT	p.V841V	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Silent_p.V146V|EPB41L3_ENST00000427684.2_Silent_p.V138V|EPB41L3_ENST00000544123.1_Silent_p.V672V|EPB41L3_ENST00000540638.2_Silent_p.V619V|EPB41L3_ENST00000400111.3_Silent_p.V619V|EPB41L3_ENST00000342933.3_Silent_p.V841V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	841	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCAGGTGGTGCACGGTGGGTT	0.567													14	53					2.31682e-05	2.43076e-05	1	0	A	5397375	C	A	5397375	2	1	182	1	0	0	0	0	0	0	0	1	5192	697	25	4		4	EPB41L3	18	5397375	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	1	5397375	72679873	125	31959	241	2									
PSMA8	143471	broad.mit.edu	37	chr18	23772346	23772346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaggaaaaggaagaagcaGagaagaaaaaatcaaagaaa	28	1	10	2	0	1	4	1	0	0	4	1	7	1	6	0	2	1	1	0	2	12	0			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:23772346G>A	ENST00000308268.6	+	7	831	c.742G>A	c.(742-744)Gag>Aag	p.E248K	PSMA8_ENST00000343848.6_Missense_Mutation_p.E204K|PSMA8_ENST00000415576.2_Missense_Mutation_p.E242K	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	248					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GGAAGAAGCAGAGAAGAAAAA	0.303													9	47					0	0	0	0	A	23772346	G	A	23772346	3	1	182	1	0	0	0	0	1	0	0	0	12752	943	33	2	768	2	PSMA8	18	23772346	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	18374971	23772346	54304902	126	31960											
POLI	11201	broad.mit.edu	37	chr18	51820401	51820401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtagcaaacaggtatcctCtgtatctccttgtgaaccgg	10	11	9	11	1	2	1	0	1	2	0	4	1	3	1	3	2	3	4	3	2	5	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:51820401C>T	ENST00000579534.1	+	10	1930	c.1787C>T	c.(1786-1788)tCt>tTt	p.S596F	POLI_ENST00000406285.3_Missense_Mutation_p.S517F|POLI_ENST00000579434.1_Missense_Mutation_p.S493F|POLI_ENST00000217800.5_Missense_Mutation_p.S470F	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	596	Ser-rich.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		CAGGTATCCTCTGTATCTCCT	0.338								DNA polymerases (catalytic subunits)					20	56					0	0	0	0	T	51820401	C	T	51820401	3	4	182	1	0	0	0	0	1	0	0	0	12275	913	32	2	1825	2	POLI	18	51820401	Missense_Mutation	SNP	C	TCGA-CR-6478-01A-11D-1870-08	28048055	51820401	26256847	127	31961											
ZADH2	284273	broad.mit.edu	37	chr18	72914175	72914175	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtgtatctggcactagcAgagaggcctagggccaccac	10	7	12	12	0	1	1	0	0	1	1	1	2	1	1	3	3	1	3	3	3	3	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr18:72914175A>G	ENST00000322342.3	-	2	619	c.330T>C	c.(328-330)tcT>tcC	p.S110S	ZADH2_ENST00000537114.2_5'UTR	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	110						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TGGCACTAGCAGAGAGGCCTA	0.537													12	108					0	0	0	0	G	72914175	A	G	72914175	2	3	182	1	0	0	0	0	0	0	0	1	17607	175	7	5		5	ZADH2	18	72914175	Silent	SNP	A	TCGA-CR-6478-01A-11D-1870-08	21093774	72914175	5163073	128	31962											
EMR1	2015	broad.mit.edu	37	chr19	6919744	6919744	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatccaatcatctacactCtggagaacattcaggtttgt	12	12	7	10	0	4	2	2	0	2	2	5	3	5	2	1	2	2	1	1	2	3	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:6919744C>T	ENST00000312053.4	+	13	1643	c.1606C>T	c.(1606-1608)Ctg>Ttg	p.L536L	EMR1_ENST00000381407.5_Silent_p.L395L|EMR1_ENST00000381404.4_Silent_p.L484L|EMR1_ENST00000450315.3_Silent_p.L359L|EMR1_ENST00000250572.8_Silent_p.L536L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	536	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CATCTACACTCTGGAGAACAT	0.458													7	61					0	0	0	0	T	6919744	C	T	6919744	2	4	182	1	0	0	0	0	0	0	0	1	5142	912	32	2		2	EMR1	19	6919744	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08		6919744	52209239	129	31963											
ATG4D	84971	broad.mit.edu	37	chr19	10663623	10663623	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctggccgagggccatgcTcaggaccacagcctggacga	9	4	13	15	2	1	0	1	0	0	0	1	4	1	2	5	4	2	1	5	4	0	0			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:10663623T>A	ENST00000309469.4	+	10	1478	c.1305T>A	c.(1303-1305)gcT>gcA	p.A435A	ATG4D_ENST00000540862.1_Silent_p.A102A	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	435					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGGGCCATGCTCAGGACCACA	0.672													13	61					0	0	0	0	A	10663623	T	A	10663623	2	1	182	1	0	0	0	0	0	0	0	1	1103	1538	54	5		5	ATG4D	19	10663623	Silent	SNP	T	TCGA-CR-6478-01A-11D-1870-08	3743879	10663623	48465360	130	31964											
CLEC17A	388512	broad.mit.edu	37	chr19	14707912	14707912	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttggactcttcttcatagaCcaggagttgatggaagaact	11	13	10	7	0	3	3	1	1	2	2	3	6	3	6	1	3	1	1	1	3	3	5			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:14707912C>T	ENST00000547437.1	+	10	662	c.583_splice	c.e10-1	p.Y195_splice	CLEC17A_ENST00000397439.2_Splice_Site_p.Y178_splice|CLEC17A_ENST00000417570.1_Splice_Site_p.Y195_splice	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	195						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										TCTTCATAGACCAGGAGTTGA	0.493													3	18					0	0	0	0	T	14707912	C	T	14707912	5	4	182	1	0	0	0	0	0	0	1	0	3531	521	18	4	568	4	CLEC17A	19	14707912	Splice_Site	SNP	C	TCGA-CR-6478-01A-11D-1870-08	4044289	14707912	44421071	131	31965											
OR7A17	26333	broad.mit.edu	37	chr19	14991892	14991892	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatgcagcctgcataggtGatgactctgctctgtgtctg	6	13	13	9	0	3	3	0	3	3	0	3	3	3	3	1	1	4	3	1	1	1	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:14991892G>A	ENST00000327462.2	-	1	372	c.276C>T	c.(274-276)atC>atT	p.I92I		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CTGCATAGGTGATGACTCTGC	0.468													15	77					0	0	0	0	A	14991892	G	A	14991892	2	1	182	1	0	0	0	0	0	0	0	1	11286	1280	45	2		2	OR7A17	19	14991892	Silent	SNP	G	TCGA-CR-6478-01A-11D-1870-08	283980	14991892	44137091	132	31966											
CPAMD8	27151	broad.mit.edu	37	chr19	17057903	17057903	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgatgttgttgagtccCaggtcgctgaaggacagaac	9	9	13	10	2	0	4	0	3	0	1	2	5	1	5	2	2	1	3	2	2	2	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:17057903C>T	ENST00000443236.1	-	21	2815	c.2784G>A	c.(2782-2784)ctG>ctA	p.L928L		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	881						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTTGAGTCCCAGGTCGCTGA	0.592													11	78					0	0	0	0	T	17057903	C	T	17057903	2	4	182	1	0	0	0	0	0	0	0	1	3825	581	21	4		4	CPAMD8	19	17057903	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	2066011	17057903	42071080	133	31967											
KIAA1683	80726	broad.mit.edu	37	chr19	18376204	18376204	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgtgtctgggaatgcaTcttgctcagacaggtgtcca	9	11	12	9	0	3	2	1	0	2	2	4	3	4	3	1	2	2	2	1	2	1	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:18376204T>A	ENST00000392413.3	-	3	2361	c.2146A>T	c.(2146-2148)Atg>Ttg	p.M716L	KIAA1683_ENST00000600328.2_Missense_Mutation_p.M716L|KIAA1683_ENST00000600359.2_Missense_Mutation_p.M670L	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	716						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGGGAATGCATCTTGCTCAGA	0.627													8	54					0	0	0	0	A	18376204	T	A	18376204	3	1	182	1	0	0	0	0	1	0	0	0	8302	1435	50	5	1965	5	KIAA1683	19	18376204	Missense_Mutation	SNP	T	TCGA-CR-6478-01A-11D-1870-08	1318301	18376204	40752779	134	31968											
ZNF90	7643	broad.mit.edu	37	chr19	20229657	20229657	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaatgtcaagaatgtgacAaagtcttcaaacgctcctca	16	9	6	10	1	4	2	3	1	1	1	5	2	5	2	1	0	1	1	1	0	5	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:20229657A>G	ENST00000418063.2	+	4	1406	c.1294A>G	c.(1294-1296)Aaa>Gaa	p.K432E	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	432						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						AGAATGTGACAAAGTCTTCAA	0.413													3	13					0	0	0	0	G	20229657	A	G	20229657	3	3	182	1	0	0	0	0	1	0	0	0	18292	131	5	5	1308	5	ZNF90	19	20229657	Missense_Mutation	SNP	A	TCGA-CR-6478-01A-11D-1870-08	1853453	20229657	38899326	135	31969											
ZNF536	9745	broad.mit.edu	37	chr19	31039805	31039805	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actctgggagagcagaagagCggtgcatggaccggccacgt	10	5	16	10	3	1	3	0	0	1	3	1	5	1	4	2	4	3	2	2	4	1	0	rs147863190		TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:31039805C>T	ENST00000355537.3	+	4	3426	c.3279C>T	c.(3277-3279)agC>agT	p.S1093S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1093					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.S1093S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCAGAAGAGCGGTGCATGGA	0.537													11	39					0	0	0	0	T	31039805	C	T	31039805	2	4	182	1	0	0	0	0	0	0	0	1	18069	767	27	1		1	ZNF536	19	31039805	Silent	SNP	C	TCGA-CR-6478-01A-11D-1870-08	10810148	31039805	28089178	136	31970											
TNNT1	7138	broad.mit.edu	37	chr19	55652591	55652591	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaccagctcctcttcctccTtcttccgctgctcgaaatgt	6	13	5	17	2	2	0	0	0	2	0	7	1	6	0	5	0	3	3	5	0	2	3			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr19:55652591T>G	ENST00000588981.1	-	8	476	c.272A>C	c.(271-273)aAg>aCg	p.K91T	TNNT1_ENST00000536926.1_Missense_Mutation_p.K80T|TNNT1_ENST00000291901.8_Missense_Mutation_p.K91T|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587758.1_Missense_Mutation_p.K80T|TNNT1_ENST00000587465.2_Missense_Mutation_p.K21T|TNNT1_ENST00000356783.5_Missense_Mutation_p.K80T|TNNT1_ENST00000585321.2_Missense_Mutation_p.K21T	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	91					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CTCTTCCTCCTTCTTCCGCTG	0.592											OREG0025677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	50					0	0	0	0	G	55652591	T	G	55652591	3	3	182	1	0	0	0	0	1	0	0	0	16424	1609	56	5	592	5	TNNT1	19	55652591	Missense_Mutation	SNP	T	TCGA-CR-6478-01A-11D-1870-08	24612786	55652591	3476392	137	31971											
SEC23B	10483	broad.mit.edu	37	chr20	18529385	18529385	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgatccagcccattctcTactcttactcctttcatggg	7	15	5	14	0	4	1	2	1	2	0	7	1	6	1	3	1	3	0	3	1	2	4			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr20:18529385T>A	ENST00000336714.3	+	16	2308	c.1876T>A	c.(1876-1878)Tac>Aac	p.Y626N	SEC23B_ENST00000377475.3_Missense_Mutation_p.Y626N|SEC23B_ENST00000262544.2_Missense_Mutation_p.Y626N|SEC23B_ENST00000377465.1_Missense_Mutation_p.Y626N	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	626					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GCCCATTCTCTACTCTTACTC	0.438													14	52					0	0	0	0	A	18529385	T	A	18529385	3	1	182	1	0	0	0	0	1	0	0	0	14079	1522	53	5	1934	5	SEC23B	20	18529385	Missense_Mutation	SNP	T	TCGA-CR-6478-01A-11D-1870-08		18529385	44496135	138	31972											
MOCS3	27304	broad.mit.edu	37	chr20	49575960	49575962	+	In_Frame_Del	DEL	TGC	TGC	-																															cctggttaatgacgcatgtgTgctggcgggtcggcccctcg																										TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr20:49575960_49575962delTGC	ENST00000244051.1	+	1	598_600	c.581_583delTGC	c.(580-585)gtg>g	p.VL194del		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	194					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GACGCATGTGTGCTGGCGGGTCG	0.596													15	55	---	---	---	---					-	49575962	TGC	-	49575960	7	5	182	1	0	1	0	1	0	0	0	0	9762	1696	59	0	583	0	MOCS3	20	49575960	In_Frame_Del	DEL	TGC	TCGA-CR-6478-01A-11D-1870-08	31046575	49575960	13449560	139	31973											
BRWD1	54014	broad.mit.edu	37	chr21	40604128	40604128	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccatttttctccatggcTccttattagggttcagttca	7	17	7	10	0	3	0	2	0	1	0	6	1	5	0	3	2	0	3	3	2	2	6			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chr21:40604128T>A	ENST00000342449.3	-	25	3053	c.2975A>T	c.(2974-2976)gAg>gTg	p.E992V	BRWD1_ENST00000333229.2_Missense_Mutation_p.E992V|BRWD1_ENST00000380800.3_Missense_Mutation_p.E992V	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	992					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCTCCATGGCTCCTTATTAGG	0.299													15	39					0	0	0	0	A	40604128	T	A	40604128	3	1	182	1	0	0	0	0	1	0	0	0	1533	1551	54	5	4298	5	BRWD1	21	40604128	Missense_Mutation	SNP	T	TCGA-CR-6478-01A-11D-1870-08		40604128	7525767	140	31974											
PTCHD1	139411	broad.mit.edu	37	chrX	23353314	23353314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccagaaagccaacatgctgGaccagcatcacaccgacctg	13	5	8	15	1	1	1	1	0	0	1	2	3	2	2	5	1	4	2	5	1	2	0			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chrX:23353314G>A	ENST00000379361.4	+	1	1182	c.322G>A	c.(322-324)Gac>Aac	p.D108N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	108					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CAACATGCTGGACCAGCATCA	0.677													7	26					0	0	0	0	A	23353314	G	A	23353314	3	1	182	1	0	0	0	0	1	0	0	0	12811	1174	41	2	324	2	PTCHD1	23	23353314	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08		23353314	131917246	141	31975											
AWAT1	158833	broad.mit.edu	37	chrX	69455943	69455943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcgttcggcctgggtaaGgaactggtgtgtctggaccc	6	9	16	10	2	1	0	0	0	1	0	2	2	1	2	2	6	1	2	2	6	2	2			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chrX:69455943G>A	ENST00000374521.3	+	3	250	c.209G>A	c.(208-210)aGg>aAg	p.R70K	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	70					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						GCCTGGGTAAGGAACTGGTGT	0.517													11	91					0	0	0	0	A	69455943	G	A	69455943	3	1	182	1	0	0	0	0	1	0	0	0	1238	1000	35	4	219	4	AWAT1	23	69455943	Missense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	46102629	69455943	85814617	142	31976											
MED12	9968	broad.mit.edu	37	chrX	70356763	70356763	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccgggtcggagcggcccttAtggtgtgacagtgcctccgg	4	8	16	13	4	0	1	0	1	0	0	2	2	1	2	4	5	2	0	4	5	1	1			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chrX:70356763A>G	ENST00000333646.6	+	38	5634	c.5435A>G	c.(5434-5436)tAt>tGt	p.Y1812C	MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_Missense_Mutation_p.Y1812C|MED12_ENST00000374102.1_Missense_Mutation_p.Y1812C	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1812	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGCGGCCCTTATGGTGTGACA	0.592			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						15	42					0	0	0	0	G	70356763	A	G	70356763	3	3	182	1	0	0	0	0	1	0	0	0	9497	449	16	5	5585	5	MED12	23	70356763	Missense_Mutation	SNP	A	TCGA-CR-6478-01A-11D-1870-08	900820	70356763	84913797	143	31977											
CT45A5	441521	broad.mit.edu	37	chrX	134947917	134947917	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactacttacttcgtccaagGcatcggatttccttcactac	9	13	5	14	2	1	0	1	0	0	0	5	1	3	1	2	2	3	1	2	2	4	6			TCGA-CR-6478-01A-11D-1870-08	TCGA-CR-6478-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21f40c6-4260-4def-8cca-1c11895b35b0	047fe7f4-33c6-4080-8d2f-5849cd110a6c	g.chrX:134947917G>T	ENST00000370724.3	-	3	652	c.408C>A	c.(406-408)tgC>tgA	p.C136*	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Nonsense_Mutation_p.C136*	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	136										endometrium(1)|large_intestine(2)|lung(6)	9						TTCGTCCAAGGCATCGGATTT	0.398													26	95					2.27525e-19	2.51062e-19	1	0	T	134947917	G	T	134947917	4	4	182	1	0	0	0	0	0	1	0	0	4020	1195	42	4	173	4	CT45A5	23	134947917	Nonsense_Mutation	SNP	G	TCGA-CR-6478-01A-11D-1870-08	64591154	134947917	20322643	144	31978											
TMEM222	84065	broad.mit.edu	37	chr1	27657224	27657224	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaggtggtttttccccAtcatcggccacatgggcatc	7	11	9	14	1	2	0	2	0	0	0	5	0	3	0	3	4	0	2	3	4	0	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:27657224A>G	ENST00000374076.4	+	2	246	c.208A>G	c.(208-210)Atc>Gtc	p.I70V		NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	70						integral to membrane	protein binding	p.I70V(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GTTTTTCCCCATCATCGGCCA	0.582													74	148					0	0	0	0	G	27657224	A	G	27657224	3	3	183	1	0	0	0	0	1	0	0	0	16239	217	8	5	214	5	TMEM222	1	27657224	Missense_Mutation	SNP	A	TCGA-CR-6480-01A-11D-1870-08		27657224	221593397	1	31979											
IL12RB2	3595	broad.mit.edu	37	chr1	67787297	67787297	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattgcagatgcgtgcaagaGaggcgatgtgactgtgaagc	11	9	15	6	2	0	4	0	2	0	2	0	6	0	4	0	1	4	2	0	1	3	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:67787297G>C	ENST00000262345.1	+	3	729	c.89G>C	c.(88-90)aGa>aCa	p.R30T	IL12RB2_ENST00000544434.1_Missense_Mutation_p.R30T|IL12RB2_ENST00000541374.1_Missense_Mutation_p.R30T|IL12RB2_ENST00000371000.1_Missense_Mutation_p.R30T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	30					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GCGTGCAAGAGAGGCGATGTG	0.393													33	66					0	0	0	0	C	67787297	G	C	67787297	3	2	183	1	0	0	0	0	1	0	0	0	7680	942	33	2	95	2	IL12RB2	1	67787297	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	40130073	67787297	181463324	2	31980											
C1orf173	127254	broad.mit.edu	37	chr1	75037078	75037078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctagccctgaggtcttcCgctccagggctcctggagtg	4	10	13	14	1	1	1	0	1	1	0	5	2	5	2	5	3	1	2	5	3	1	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:75037078C>T	ENST00000326665.5	-	14	4534	c.4316G>A	c.(4315-4317)cGg>cAg	p.R1439Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1439	Glu-rich.									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						TGAGGTCTTCCGCTCCAGGGC	0.612													14	126					0	0	0	0	T	75037078	C	T	75037078	3	4	183	1	0	0	0	0	1	0	0	0	2033	652	23	1	280	1	C1orf173	1	75037078	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	7249781	75037078	174213543	3	31981											
ATXN7L2	127002	broad.mit.edu	37	chr1	110028684	110028684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtttctcctctaggggctGagctggaggagagtagcaaa	9	10	15	7	0	2	2	0	1	2	1	3	4	2	3	1	4	2	5	1	4	3	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:110028684G>A	ENST00000369870.3	+	2	148	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	45										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTAGGGGCTGAGCTGGAGGA	0.527													33	43					0	0	0	0	A	110028684	G	A	110028684	3	1	183	1	0	0	0	0	1	0	0	0	1221	1291	45	2	139	2	ATXN7L2	1	110028684	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	34991606	110028684	139221937	4	31982											
CTSS	1520	broad.mit.edu	37	chr1	150724308	150724308	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgatgcccttgttatcaatGatgtactggaaagccgttgt	9	14	10	8	2	1	1	1	1	0	0	2	3	1	2	2	1	3	3	2	1	4	4			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:150724308G>A	ENST00000368985.3	-	5	836	c.576C>T	c.(574-576)atC>atT	p.I192I	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.I142I	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	192					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGTTATCAATGATGTACTGGA	0.468													48	88					0	0	0	0	A	150724308	G	A	150724308	2	1	183	1	0	0	0	0	0	0	0	1	4073	1280	45	2		2	CTSS	1	150724308	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	40695624	150724308	98526313	5	31983			1	43		3	3	173	G		2.632191e-07
CTSS	1520	broad.mit.edu	37	chr1	150724458	150724458	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagggcccccacagcactGaaagcccagcaagcaccaca	13	2	8	18	0	0	1	0	1	0	0	1	1	1	1	5	1	4	3	5	1	2	0			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:150724458G>A	ENST00000368985.3	-	5	686	c.426C>T	c.(424-426)ttC>ttT	p.F142F	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.F92F	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	142					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCACAGCACTGAAAGCCCAGC	0.478													15	32					0	0	0	0	A	150724458	G	A	150724458	2	1	183	1	0	0	0	0	0	0	0	1	4073	1281	45	2		2	CTSS	1	150724458	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	150	150724458	98526163	6	31984			1	43		3	3	173	G		2.632191e-07
CTSS	1520	broad.mit.edu	37	chr1	150724480	150724480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccagcaagcaccacaaGaaccctaaaacagatacaag	20	2	6	13	0	0	2	0	0	0	2	0	2	0	2	3	0	6	2	3	0	8	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:150724480G>T	ENST00000368985.3	-	5	664	c.404C>A	c.(403-405)tCt>tAt	p.S135Y	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.S85Y	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	135					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGCACCACAAGAACCCTAAAA	0.493													15	28					6.31663e-08	6.66755e-08	1	0	T	150724480	G	T	150724480	3	4	183	1	0	0	0	0	1	0	0	0	4073	942	33	2	607	2	CTSS	1	150724480	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	22	150724480	98526141	7	31985			1	43		3	3	173	G		2.632191e-07
LY9	4063	broad.mit.edu	37	chr1	160771628	160771628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcatcgagggtgaccaccGcacactcctggagggcagcg	8	5	14	14	4	1	1	1	1	0	0	3	3	2	2	3	3	1	2	3	3	0	0			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:160771628G>A	ENST00000368039.2	+	3	504	c.503G>A	c.(502-504)cGc>cAc	p.R168H	LY9_ENST00000263285.5_Intron|LY9_ENST00000471816.1_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000341032.4_Intron	NM_001033667.2	NP_001028839.1	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	0	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.R168H(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGTGACCACCGCACACTCCTG	0.572													4	148					0	0	0	0	A	160771628	G	A	160771628	3	1	183	1	0	0	0	0	1	0	0	0	9166	1087	38	1	513	1	LY9	1	160771628	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	10047148	160771628	88478993	8	31986											
RASAL2	9462	broad.mit.edu	37	chr1	178433454	178433454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacaatgtccccagtagaGaggacagcagcctgggttct	10	7	12	12	0	1	1	0	0	1	1	2	3	2	2	4	2	2	3	4	2	2	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:178433454G>A	ENST00000448150.3	+	15	4079	c.3261G>A	c.(3259-3261)gaG>gaA	p.E1087E	RASAL2_ENST00000462775.1_Silent_p.E957E|RASAL2_ENST00000367649.3_Silent_p.E1098E	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	957					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCCAGTAGAGAGGACAGCAG	0.478													15	23					0	0	0	0	A	178433454	G	A	178433454	2	1	183	1	0	0	0	0	0	0	0	1	13146	933	33	2		2	RASAL2	1	178433454	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	17661826	178433454	70817167	9	31987											
TPR	7175	broad.mit.edu	37	chr1	186327736	186327736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatctctctcaagtacagatGattgcttgttggctttatca	9	17	7	8	0	3	2	2	1	2	1	5	2	3	2	0	1	2	4	0	1	4	7			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:186327736G>A	ENST00000367478.3	-	13	1732	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	479					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.S480*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AAGTACAGATGATTGCTTGTT	0.318			T	NTRK1	papillary thyroid								28	75					0	0	0	0	A	186327736	G	A	186327736	3	1	183	1	0	0	0	0	1	0	0	0	16511	1294	45	2	5811	2	TPR	1	186327736	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	7894282	186327736	62922885	10	31988											
RRP15	51018	broad.mit.edu	37	chr1	218475717	218475717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtgatgctgagccctGtgacaaagaaaatgaaaatg	15	8	13	5	0	0	6	0	5	0	1	0	6	0	6	1	1	2	1	1	1	5	0			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:218475717G>T	ENST00000366932.3	+	2	251	c.221G>T	c.(220-222)tGt>tTt	p.C74F	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	74						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		GCTGAGCCCTGTGACAAAGAA	0.428													23	30					1.64293e-13	1.76693e-13	1	0	T	218475717	G	T	218475717	3	4	183	1	0	0	0	0	1	0	0	0	13772	1377	48	4	227	4	RRP15	1	218475717	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	32147981	218475717	30774904	11	31989											
TMEM63A	9725	broad.mit.edu	37	chr1	226041387	226041387	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgatcatgcggaaggtataGaggatgagacctggcagccg	12	7	15	7	2	1	3	1	2	0	2	1	6	1	5	2	4	2	2	2	4	3	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:226041387G>C	ENST00000366835.3	-	19	2010	c.1740C>G	c.(1738-1740)ctC>ctG	p.L580L		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	580						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GGAAGGTATAGAGGATGAGAC	0.602													5	5					0	0	0	0	C	226041387	G	C	226041387	2	2	183	1	0	0	0	0	0	0	0	1	16284	929	33	2		2	TMEM63A	1	226041387	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	7565670	226041387	23209234	12	31990											
HEATR1	55127	broad.mit.edu	37	chr1	236718636	236718636	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttcaaggtgtcagcaaaAggcttcactaagtggccggc	10	9	13	9	1	3	0	3	0	0	0	3	0	3	0	1	5	1	3	1	5	4	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:236718636A>G	ENST00000366582.3	-	41	5997	c.5883T>C	c.(5881-5883)ccT>ccC	p.P1961P	HEATR1_ENST00000366581.2_Silent_p.P1880P	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1961					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTCAGCAAAAGGCTTCACTA	0.483													3	122					0	0	0	0	G	236718636	A	G	236718636	2	3	183	1	0	0	0	0	0	0	0	1	7077	59	3	5		5	HEATR1	1	236718636	Silent	SNP	A	TCGA-CR-6480-01A-11D-1870-08	10677249	236718636	12531985	13	31991											
RYR2	6262	broad.mit.edu	37	chr1	237713931	237713931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaacaaggacagcctccgcGaggctgtgcgcacgctgctg	8	5	13	15	4	0	0	0	0	0	0	1	2	1	1	3	2	4	4	3	2	2	0			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:237713931G>A	ENST00000366574.2	+	27	3471	c.3154G>A	c.(3154-3156)Gag>Aag	p.E1052K	RYR2_ENST00000542537.1_Missense_Mutation_p.E1036K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1050K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1052	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E1050K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGCCTCCGCGAGGCTGTGCG	0.493													6	6					0	0	0	0	A	237713931	G	A	237713931	3	1	183	1	0	0	0	0	1	0	0	0	13854	1059	37	1	3260	1	RYR2	1	237713931	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	995295	237713931	11536690	14	31992											
KIF26B	55083	broad.mit.edu	37	chr1	245850334	245850334	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgagatgggagatgactCtttcaacaaagcagccccca	12	8	10	11	0	3	3	1	2	2	2	3	5	3	3	2	1	3	1	2	1	2	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr1:245850334C>G	ENST00000366518.4	+	9	3010	c.2906C>G	c.(2905-2907)tCt>tGt	p.S969C	KIF26B_ENST00000407071.2_Missense_Mutation_p.S1350C			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1350					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGAGATGACTCTTTCAACAAA	0.557													13	19					0	0	0	0	G	245850334	C	G	245850334	3	3	183	1	0	0	0	0	1	0	0	0	8346	913	32	2	4095	2	KIF26B	1	245850334	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	8136403	245850334	3400287	15	31993											
NT5C1B	93034	broad.mit.edu	37	chr2	18765360	18765360	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcttgcagaataccttgacGaagcggaacgccgggcccgg	10	5	14	12	5	0	2	0	1	0	1	0	4	0	3	3	3	5	2	3	3	4	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:18765360G>A	ENST00000304081.4	-	5	985	c.885C>T	c.(883-885)ttC>ttT	p.F295F	NT5C1B_ENST00000600945.1_Silent_p.F355F|NT5C1B-RDH14_ENST00000532967.1_Silent_p.F355F|NT5C1B_ENST00000359846.2_Silent_p.F355F	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ATACCTTGACGAAGCGGAACG	0.572													29	67					0	0	0	0	A	18765360	G	A	18765360	2	1	183	1	0	0	0	0	0	0	0	1	10757	1049	37	1		1	NT5C1B	2	18765360	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08		18765360	224434013	16	31994											
TP53I3	9540	broad.mit.edu	37	chr2	24302332	24302332	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttattgtccctagacctCagcaaactggtgatcagact	11	11	7	12	0	2	3	2	1	0	2	3	3	3	3	3	1	2	1	3	1	3	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:24302332C>T	ENST00000238721.4	-	4	1652	c.798G>A	c.(796-798)ctG>ctA	p.L266L	TP53I3_ENST00000313482.4_Intron|TP53I3_ENST00000335934.4_Silent_p.L266L|TP53I3_ENST00000407482.1_Intron|FAM228B_ENST00000461972.1_Intron	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	266					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTAGACCTCAGCAAACTGG	0.438													35	90					0	0	0	0	T	24302332	C	T	24302332	2	4	183	1	0	0	0	0	0	0	0	1	16482	813	29	2		2	TP53I3	2	24302332	Silent	SNP	C	TCGA-CR-6480-01A-11D-1870-08	5536972	24302332	218897041	17	31995											
DOK1	1796	broad.mit.edu	37	chr2	74784055	74784055	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcggagcacaaagcccctCcttgctcccaagccccaggg	8	5	9	19	1	0	0	0	0	0	0	3	1	2	1	7	2	4	2	7	2	2	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:74784055C>A	ENST00000233668.5	+	5	1929	c.1260C>A	c.(1258-1260)ctC>ctA	p.L420L	DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Silent_p.L281L|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	420	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CAAAGCCCCTCCTTGCTCCCA	0.617													81	147					3.16549e-35	3.49225e-35	1	0	A	74784055	C	A	74784055	2	1	183	1	0	0	0	0	0	0	0	1	4732	842	30	2		2	DOK1	2	74784055	Silent	SNP	C	TCGA-CR-6480-01A-11D-1870-08	50481723	74784055	168415318	18	31996											
ARID5A	10865	broad.mit.edu	37	chr2	97215191	97215195	+	Splice_Site	DEL	AGCAG	AGCAG	-																															ggtgccccatctcggcttcaAgcagagtgcgtccctggggt																										TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:97215191_97215195delAGCAG	ENST00000454558.2	+	3	1227_1231	c.55_splice	c.e3+1	p.KQ17_splice	ARID5A_ENST00000357485.3_Splice_Site_p.KQ85_splice			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	85					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CTCGGCTTCAAGCAGAGTGCGTCCC	0.678													21	54	---	---	---	---					-	97215195	AGCAG	-	97215191	8	5	183	1	0	1	0	1	0	0	1	0	923	72	3	0	264	0	ARID5A	2	97215191	Splice_Site	DEL	AGCAG	TCGA-CR-6480-01A-11D-1870-08	22431136	97215191	145984182	19	31997											
NCK2	8440	broad.mit.edu	37	chr2	106498358	106498358	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccctgcgcacgccccAcagataagctacaccgggcc	9	4	9	19	3	0	1	0	0	0	1	0	1	0	1	5	1	4	3	5	1	2	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:106498358A>G	ENST00000233154.4	+	4	1243	c.801A>G	c.(799-801)ccA>ccG	p.P267P	NCK2_ENST00000393349.2_Silent_p.P267P|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	267					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						CGCACGCCCCACAGATAAGCT	0.667													19	32					0	0	0	0	G	106498358	A	G	106498358	2	3	183	1	0	0	0	0	0	0	0	1	10290	146	6	5		5	NCK2	2	106498358	Silent	SNP	A	TCGA-CR-6480-01A-11D-1870-08	9283167	106498358	136701015	20	31998											
KIF5C	3800	broad.mit.edu	37	chr2	149838001	149838001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagctggctgtcaattatGaccagaaatcacaggaagtg	14	8	12	7	0	2	2	2	1	0	1	2	4	2	4	1	3	1	2	1	3	4	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:149838001G>A	ENST00000435030.1	+	14	1863	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.D404N|KIF5C_ENST00000397413.1_Missense_Mutation_p.D267N			O60282	KIF5C_HUMAN	kinesin family member 5C	499					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TGTCAATTATGACCAGAAATC	0.532													6	7					0	0	0	0	A	149838001	G	A	149838001	3	1	183	1	0	0	0	0	1	0	0	0	8358	1290	45	2	1471	2	KIF5C	2	149838001	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	43339643	149838001	93361372	21	31999											
MARCH7	64844	broad.mit.edu	37	chr2	160615841	160615841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacatagagctcatgcaaatGaacaagttagtatattttgc	15	13	7	6	0	1	2	1	1	0	1	1	2	1	2	0	0	5	4	0	0	8	7			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:160615841G>A	ENST00000259050.3	+	7	2010	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	MARCH7_ENST00000539065.1_Missense_Mutation_p.E574K|MARCH7_ENST00000409175.1_Missense_Mutation_p.E630K|MARCH7_ENST00000409591.1_Missense_Mutation_p.E592K	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	630							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TCATGCAAATGAACAAGTTAG	0.353													38	57					0	0	0	0	A	160615841	G	A	160615841	3	1	183	1	0	0	0	0	1	0	0	0	9375	1291	45	2	1910	2	MARCH7	2	160615841	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	10777840	160615841	82583532	22	32000											
PDE11A	50940	broad.mit.edu	37	chr2	178592823	178592823	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggagagcagctgtgatcatGgcatcaacgtcgagagaaaa	14	6	13	8	3	2	3	2	1	0	2	3	6	2	3	0	2	3	3	0	2	3	0			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:178592823G>A	ENST00000286063.5	-	11	2183	c.1866C>T	c.(1864-1866)gcC>gcT	p.A622A	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Silent_p.A264A|PDE11A_ENST00000409504.1_Silent_p.A264A|PDE11A_ENST00000358450.4_Silent_p.A372A|PDE11A_ENST00000389683.3_Silent_p.A178A	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	622					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTGTGATCATGGCATCAACGT	0.443									Primary Pigmented Nodular Adrenocortical Disease, Familial				23	38					0	0	0	0	A	178592823	G	A	178592823	2	1	183	1	0	0	0	0	0	0	0	1	11702	1335	47	4		4	PDE11A	2	178592823	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	17976982	178592823	64606550	23	32001											
TTN	7273	broad.mit.edu	37	chr2	179529438	179529438	+	Missense_Mutation	SNP	G	G	A																															cacaagcgttttcttttcagGgacaatttcttggagagctt																										TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:179529438G>A	ENST00000589042.1	-	167	36369	c.36145C>T	c.(36145-36147)Cct>Tct	p.P12049S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10197	Ig-like 80.						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)			TTCTTTTCAGGGACAATTTCT	0.383													9	56					0	0	0	0	A	179529438	G	A	179529438	3	1	183	1	0	0	0	0	1	0	0	0	16831	1247	43	4		4	TTN	2	179529438	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	936615	179529438	63669935	24	32002	242	2									
TTN	7273	broad.mit.edu	37	chr2	179529439	179529439	+	Silent	SNP	G	G	T																															acaagcgttttcttttcaggGacaatttcttggagagcttc																										TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:179529439G>T	ENST00000589042.1	-	167	36368	c.36144C>A	c.(36142-36144)gtC>gtA	p.V12048V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10196	Ig-like 80.						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)			TCTTTTCAGGGACAATTTCTT	0.383													8	56					1.06961e-07	1.12211e-07	1	0	T	179529439	G	T	179529439	2	4	183	1	0	0	0	0	0	0	0	1	16831	1189	41	2		2	TTN	2	179529439	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	1	179529439	63669934	25	32003	242	2									
RPE	6120	broad.mit.edu	37	chr2	210867428	210867428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccgtccatcctcaacagcGacctggccaatttaggggcc	8	7	10	16	2	1	0	1	0	0	0	3	1	3	0	6	3	2	0	6	3	3	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr2:210867428G>A	ENST00000359429.6	+	1	140	c.43G>A	c.(43-45)Gac>Aac	p.D15N	RPE_ENST00000429921.1_5'UTR|RPE_ENST00000540255.1_Missense_Mutation_p.D15N|RPE_ENST00000438204.2_5'UTR|RPE_ENST00000354506.6_Missense_Mutation_p.D15N|RPE_ENST00000429907.1_5'UTR|RPE_ENST00000411934.2_5'UTR|RPE_ENST00000435437.2_Missense_Mutation_p.D15N|RPE_ENST00000436630.2_5'UTR|RPE_ENST00000454822.1_5'UTR|RPE_ENST00000452025.1_Missense_Mutation_p.D15N|RPE_ENST00000445268.1_5'UTR	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	15					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		CCTCAACAGCGACCTGGCCAA	0.617													16	34					0	0	0	0	A	210867428	G	A	210867428	3	1	183	1	0	0	0	0	1	0	0	0	13629	1058	37	1	45	1	RPE	2	210867428	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	31337989	210867428	32331945	26	32004											
SETD5	55209	broad.mit.edu	37	chr3	9476528	9476528	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaatgagcagggggaaggTtattagacttcatcggcgga	11	8	17	5	2	1	2	1	1	0	1	2	5	1	5	0	6	1	2	0	6	4	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:9476528T>G	ENST00000402466.1	+	6	785	c.17T>G	c.(16-18)gTt>gGt	p.V6G	SETD5_ENST00000402198.1_Missense_Mutation_p.V117G|SETD5_ENST00000406341.1_Missense_Mutation_p.V117G|SETD5_ENST00000407969.1_Missense_Mutation_p.V136G|SETD5_ENST00000302463.6_Missense_Mutation_p.V6G			Q9C0A6	SETD5_HUMAN	SET domain containing 5	117										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGGGGGAAGGTTATTAGACTT	0.438													9	31					0	0	0	0	G	9476528	T	G	9476528	3	3	183	1	0	0	0	0	1	0	0	0	14221	1725	60	5	364	5	SETD5	3	9476528	Missense_Mutation	SNP	T	TCGA-CR-6480-01A-11D-1870-08		9476528	188545902	27	32005											
CAMK1	8536	broad.mit.edu	37	chr3	9801205	9801205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaaagttcttcttgatCtgctcactcaccgactggtg	7	14	9	11	1	5	1	2	1	3	0	5	2	5	1	1	2	1	3	1	2	1	4			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:9801205C>A	ENST00000256460.3	-	10	1056	c.879G>T	c.(877-879)caG>caT	p.Q293H	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	293	Autoinhibitory domain (By similarity).				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TCTTCTTGATCTGCTCACTCA	0.527													7	240					5.18039e-06	5.30447e-06	1	0	A	9801205	C	A	9801205	3	1	183	1	0	0	0	0	1	0	0	0	2621	912	32	2	245	2	CAMK1	3	9801205	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	324677	9801205	188221225	28	32006											
WDR82	80335	broad.mit.edu	37	chr3	52292653	52292653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacacagctacttttatacCgctctctccattccagacat	11	12	3	15	1	1	1	0	0	1	1	4	1	3	1	3	0	4	2	3	0	4	5			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:52292653C>A	ENST00000296490.3	-	8	1092	c.811G>T	c.(811-813)Ggt>Tgt	p.G271C		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	271					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		ACTTTTATACCGCTCTCTCCA	0.448													8	48					0.00307968	0.00311612	1	0	A	52292653	C	A	52292653	3	1	183	1	0	0	0	0	1	0	0	0	17427	652	23	3	138	3	WDR82	3	52292653	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	42491448	52292653	145729777	29	32007											
KIAA1407	57577	broad.mit.edu	37	chr3	113684007	113684007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacactaatctggctcattCgttcaccagacttgtcttac	9	15	5	12	1	4	1	2	0	2	1	5	1	4	1	1	1	2	2	1	1	3	6			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:113684007C>T	ENST00000295878.3	-	17	2952	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	936										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTGGCTCATTCGTTCACCAGA	0.438													20	111					0	0	0	0	T	113684007	C	T	113684007	3	4	183	1	0	0	0	0	1	0	0	0	8280	893	31	1	8	1	KIAA1407	3	113684007	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	61391354	113684007	84338423	30	32008											
COX17	10063	broad.mit.edu	37	chr3	119396148	119396148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagggtttgagtcaaccaGacccggcatctttcgcgcca	8	8	12	13	3	2	2	1	1	1	1	3	2	2	2	3	3	1	3	3	3	1	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:119396148G>C	ENST00000261070.2	-	1	102	c.10C>G	c.(10-12)Ctg>Gtg	p.L4V	COX17_ENST00000497116.1_Missense_Mutation_p.L4V|COX17_ENST00000484810.1_Missense_Mutation_p.L4V	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone	4	Ala/Pro-rich.				copper ion transport|generation of precursor metabolites and energy	mitochondrial intermembrane space	copper chaperone activity			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		GAGTCAACCAGACCCGGCATC	0.617													6	21					0	0	0	0	C	119396148	G	C	119396148	3	2	183	1	0	0	0	0	1	0	0	0	3796	933	33	2	189	2	COX17	3	119396148	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	5712141	119396148	78626282	31	32009											
SEMA5B	54437	broad.mit.edu	37	chr3	122629104	122629104	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtctgctgcaatgggtaGaagttggctctgtcatcagg	7	13	14	7	0	4	1	2	0	2	1	4	1	4	1	0	4	2	5	0	4	3	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:122629104G>A	ENST00000357599.3	-	23	3728	c.3342C>T	c.(3340-3342)ttC>ttT	p.F1114F	SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Silent_p.F1168F	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1114					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCAATGGGTAGAAGTTGGCTC	0.537													41	129					0	0	0	0	A	122629104	G	A	122629104	2	1	183	1	0	0	0	0	0	0	0	1	14125	933	33	2		2	SEMA5B	3	122629104	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	3232956	122629104	75393326	32	32010											
KALRN	8997	broad.mit.edu	37	chr3	124066089	124066089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccctgcagaagaggcatGatgactttgaagaggtggct	10	8	16	7	0	0	6	0	3	0	3	0	6	0	6	1	4	1	3	1	4	2	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:124066089G>A	ENST00000360013.3	+	10	1868	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	KALRN_ENST00000460856.1_Missense_Mutation_p.D581N|KALRN_ENST00000240874.3_Missense_Mutation_p.D581N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	581					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAAGAGGCATGATGACTTTGA	0.527													26	145					0	0	0	0	A	124066089	G	A	124066089	3	1	183	1	0	0	0	0	1	0	0	0	8028	1290	45	2	1779	2	KALRN	3	124066089	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	1436985	124066089	73956341	33	32011											
SLC12A8	84561	broad.mit.edu	37	chr3	124839586	124839586	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcctccacgcatcgccttCcccagggctgccccttcctc	3	9	6	23	2	0	0	0	0	0	0	6	0	4	0	9	1	1	2	9	1	0	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:124839586C>A	ENST00000430155.2	-	1	112	c.84G>T	c.(82-84)ggG>ggT	p.G28G	SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000469902.1_Intron|SLC12A8_ENST00000393469.4_Intron|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000423114.2_Intron			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	0					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GCATCGCCTTCCCCAGGGCTG	0.637													8	7					3.09899e-07	3.21168e-07	1	0	A	124839586	C	A	124839586	2	1	183	1	0	0	0	0	0	0	0	1	14477	870	30	2		2	SLC12A8	3	124839586	Silent	SNP	C	TCGA-CR-6480-01A-11D-1870-08	773497	124839586	73182844	34	32012											
PEX5L	51555	broad.mit.edu	37	chr3	179597776	179597776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctctgctcagcatccGtgctgatgaggtcagatcca	7	10	11	13	1	3	3	2	2	1	1	6	3	5	3	3	2	3	3	3	2	0	0			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:179597776G>A	ENST00000467460.1	-	5	776	c.446C>T	c.(445-447)aCg>aTg	p.T149M	PEX5L_ENST00000485199.1_Missense_Mutation_p.T114M|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000476138.1_Missense_Mutation_p.T106M|PEX5L_ENST00000472994.1_Missense_Mutation_p.T90M|PEX5L_ENST00000468741.1_De_novo_Start_InFrame|PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000465751.1_Missense_Mutation_p.T125M|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000263962.8_Missense_Mutation_p.T147M	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	149					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTCAGCATCCGTGCTGATGAG	0.517													12	131					0	0	0	0	A	179597776	G	A	179597776	3	1	183	1	0	0	0	0	1	0	0	0	11821	1145	40	1	1478	1	PEX5L	3	179597776	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	54758190	179597776	18424654	35	32013											
LMLN	89782	broad.mit.edu	37	chr3	197751552	197751552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttaagaactatggcgctGaaaagtatggacctcattcc	12	13	8	8	1	1	2	1	1	0	1	2	3	2	3	2	2	1	2	2	2	6	6			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr3:197751552G>A	ENST00000330198.4	+	14	1571	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	LMLN_ENST00000482695.1_Missense_Mutation_p.E502K|LMLN_ENST00000332636.5_Missense_Mutation_p.E465K|LMLN_ENST00000420910.2_Missense_Mutation_p.E554K	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	517					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTATGGCGCTGAAAAGTATGG	0.393													21	92					0	0	0	0	A	197751552	G	A	197751552	3	1	183	1	0	0	0	0	1	0	0	0	8902	1291	45	2	1718	2	LMLN	3	197751552	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	18153776	197751552	270878	36	32014											
MAEA	10296	broad.mit.edu	37	chr4	1326563	1326563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatgcaagaaagcacttCagccaagcagaagggagcca	17	3	11	10	0	1	3	1	0	0	3	1	4	1	4	2	1	5	3	2	1	4	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:1326563C>A	ENST00000303400.4	+	6	738	c.675C>A	c.(673-675)ttC>ttA	p.F225L	MAEA_ENST00000452175.2_Missense_Mutation_p.F146L|MAEA_ENST00000264750.6_Missense_Mutation_p.F184L|MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000510794.1_Missense_Mutation_p.F224L|MAEA_ENST00000505839.1_Missense_Mutation_p.F177L|MAEA_ENST00000505177.2_Missense_Mutation_p.F263L|MAEA_ENST00000514708.1_Missense_Mutation_p.Q159K	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	225					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GAAAGCACTTCAGCCAAGCAG	0.517													10	26					3.07112e-06	3.16362e-06	1	0	A	1326563	C	A	1326563	3	1	183	1	0	0	0	0	1	0	0	0	9218	825	29	2	697	2	MAEA	4	1326563	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08		1326563	189827713	37	32015											
PCDH7	5099	broad.mit.edu	37	chr4	30723353	30723353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccagtgtcagatgatcttCgacgagaacgagtgcttcct	9	10	10	12	3	2	3	1	1	1	2	4	6	3	3	3	0	2	1	3	0	1	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:30723353C>T	ENST00000361762.2	+	1	1317	c.309C>T	c.(307-309)ttC>ttT	p.F103F	PCDH7_ENST00000543491.1_Silent_p.F103F	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	103	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGATGATCTTCGACGAGAACG	0.602													11	10					0	0	0	0	T	30723353	C	T	30723353	2	4	183	1	0	0	0	0	0	0	0	1	11587	883	31	1		1	PCDH7	4	30723353	Silent	SNP	C	TCGA-CR-6480-01A-11D-1870-08	29396790	30723353	160430923	38	32016											
FRAS1	80144	broad.mit.edu	37	chr4	79403092	79403092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcccagctctcggaaggtgGaatttgggcctggtgtcatt	6	13	13	9	1	2	0	1	0	1	0	4	2	3	2	2	5	1	1	2	5	2	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:79403092G>A	ENST00000264895.6	+	57	9018	c.8578G>A	c.(8578-8580)Gaa>Aaa	p.E2860K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2855	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCGGAAGGTGGAATTTGGGCC	0.522													49	43					0	0	0	0	A	79403092	G	A	79403092	3	1	183	1	0	0	0	0	1	0	0	0	6089	1175	41	2	8879	2	FRAS1	4	79403092	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	48679739	79403092	111751184	39	32017											
AFF1	4299	broad.mit.edu	37	chr4	88047256	88047256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgtttcactccaggccctCcaggccctcctcacagtcct	6	10	7	18	0	2	0	2	0	0	0	6	1	6	0	6	2	0	1	6	2	0	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:88047256C>T	ENST00000307808.6	+	13	2978	c.2558C>T	c.(2557-2559)tCc>tTc	p.S853F	AFF1_ENST00000544085.1_Missense_Mutation_p.S491F|AFF1_ENST00000395146.4_Missense_Mutation_p.S860F	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	853						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCAGGCCCTCCAGGCCCTCC	0.537													50	69					0	0	0	0	T	88047256	C	T	88047256	3	4	183	1	0	0	0	0	1	0	0	0	356	855	30	2	2650	2	AFF1	4	88047256	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	8644164	88047256	103107020	40	32018			2	44		2	2	22	C		8.886209e-05
AFF1	4299	broad.mit.edu	37	chr4	88047277	88047277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggccctcctcacagtcctCaaagaaggaaatgctccccc	11	6	7	17	0	2	1	2	0	0	1	5	2	5	2	5	2	1	1	5	2	3	0			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:88047277C>T	ENST00000307808.6	+	13	2999	c.2579C>T	c.(2578-2580)tCa>tTa	p.S860L	AFF1_ENST00000544085.1_Missense_Mutation_p.S498L|AFF1_ENST00000395146.4_Missense_Mutation_p.S867L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	860						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCACAGTCCTCAAAGAAGGAA	0.552													41	59					0	0	0	0	T	88047277	C	T	88047277	3	4	183	1	0	0	0	0	1	0	0	0	356	838	29	2	2671	2	AFF1	4	88047277	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	21	88047277	103106999	41	32019			2	44		2	2	22	C		8.886209e-05
FBXW7	55294	broad.mit.edu	37	chr4	153249401	153249401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacgcacagtggaagtatgCccatataaggtgtgtataca	14	9	10	8	1	0	0	0	0	0	0	0	1	0	1	1	2	3	3	1	2	7	5			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:153249401C>T	ENST00000281708.4	-	9	2606	c.1377G>A	c.(1375-1377)ggG>ggA	p.G459G	FBXW7_ENST00000393956.3_Silent_p.G283G|FBXW7_ENST00000603548.1_Silent_p.G459G|FBXW7_ENST00000296555.5_Silent_p.G341G|FBXW7_ENST00000263981.5_Silent_p.G379G|FBXW7_ENST00000603841.1_Silent_p.G459G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	459					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGGAAGTATGCCCATATAAGG	0.413			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								4	184					0	0	0	0	T	153249401	C	T	153249401	2	4	183	1	0	0	0	0	0	0	0	1	5814	726	26	4		4	FBXW7	4	153249401	Silent	SNP	C	TCGA-CR-6480-01A-11D-1870-08	65202124	153249401	37904875	42	32020											
DDX60L	91351	broad.mit.edu	37	chr4	169383027	169383027	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggccttcctctgaaactatCagaaaatacgggtaatgctg	13	10	9	9	1	2	2	1	1	1	1	3	2	3	2	2	2	3	2	2	2	6	4			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:169383027C>T	ENST00000511577.1	-	5	676	c.429G>A	c.(427-429)ctG>ctA	p.L143L	DDX60L_ENST00000260184.7_Silent_p.L143L|DDX60L_ENST00000505890.1_Silent_p.L143L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	143							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGAAACTATCAGAAAATACG	0.378													4	13					0	0	0	0	T	169383027	C	T	169383027	2	4	183	1	0	0	0	0	0	0	0	1	4411	813	29	2		2	DDX60L	4	169383027	Silent	SNP	C	TCGA-CR-6480-01A-11D-1870-08	16133626	169383027	21771249	43	32021											
DDX60L	91351	broad.mit.edu	37	chr4	169383170	169383170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaagaagttcaggaaaatCaaaatatgcatattcagcat	19	10	7	5	0	3	2	3	1	0	1	3	3	3	3	0	1	2	3	0	1	8	4			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr4:169383170C>T	ENST00000511577.1	-	5	533	c.286G>A	c.(286-288)Gat>Aat	p.D96N	DDX60L_ENST00000260184.7_Missense_Mutation_p.D96N|DDX60L_ENST00000505890.1_Missense_Mutation_p.D96N			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	96							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCAGGAAAATCAAAATATGCA	0.348													7	10					0	0	0	0	T	169383170	C	T	169383170	3	4	183	1	0	0	0	0	1	0	0	0	4411	826	29	2	4970	2	DDX60L	4	169383170	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	143	169383170	21771106	44	32022											
LIFR	3977	broad.mit.edu	37	chr5	38504091	38504091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttacctgctcttgtactGaattagatttcttaatttca	10	19	4	8	0	4	2	1	1	3	1	4	2	4	2	1	0	3	2	1	0	5	7			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr5:38504091G>A	ENST00000263409.4	-	10	1586	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	LIFR_ENST00000453190.2_Missense_Mutation_p.S475L|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	475	Fibronectin type-III 3.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTCTTGTACTGAATTAGATTT	0.284			T	PLAG1	salivary adenoma								33	53					0	0	0	0	A	38504091	G	A	38504091	3	1	183	1	0	0	0	0	1	0	0	0	8834	1294	45	2	1913	2	LIFR	5	38504091	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08		38504091	142411169	45	32023											
DMXL1	1657	broad.mit.edu	37	chr5	118533530	118533530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttcttctccgacgacttGaaatccatggtgggccacct	9	11	9	12	2	2	1	0	1	2	0	4	3	3	1	4	2	0	1	4	2	2	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr5:118533530G>A	ENST00000311085.8	+	32	7704	c.7624G>A	c.(7624-7626)Gaa>Aaa	p.E2542K	DMXL1_ENST00000539542.1_Missense_Mutation_p.E2542K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2542										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCGACGACTTGAAATCCATGG	0.443													73	73					0	0	0	0	A	118533530	G	A	118533530	3	1	183	1	0	0	0	0	1	0	0	0	4631	1291	45	2	7750	2	DMXL1	5	118533530	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	80029439	118533530	62381730	46	32024											
GFRA3	2676	broad.mit.edu	37	chr5	137599972	137599972	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcgggcacggtgaacGgtccaatagatgtccaagca	11	6	14	10	3	0	2	0	1	0	1	2	2	2	2	2	4	3	3	2	4	4	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr5:137599972G>A	ENST00000274721.3	-	2	603	c.357C>T	c.(355-357)acC>acT	p.T119T	GFRA3_ENST00000378362.3_Silent_p.T119T	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	119					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CACGGTGAACGGTCCAATAGA	0.552													25	49					0	0	0	0	A	137599972	G	A	137599972	2	1	183	1	0	0	0	0	0	0	0	1	6400	1103	39	1		1	GFRA3	5	137599972	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	19066442	137599972	43315288	47	32025											
ECSCR	641700	broad.mit.edu	37	chr5	138842247	138842247	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagctgcatggctcctgcGgtgcccatgtcagctgggta	6	9	13	13	1	1	0	1	0	0	0	2	0	2	0	2	3	5	5	2	3	1	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr5:138842247G>A	ENST00000515823.1	-	1	81	c.9C>T	c.(7-9)acC>acT	p.T3T		NM_001077693.2	NP_001071161.1	Q19T08	ECSCR_HUMAN	endothelial cell surface expressed chemotaxis and apoptosis regulator	3					angiogenesis|cell differentiation|chemotaxis	integral to membrane|plasma membrane											TGGCTCCTGCGGTGCCCATGT	0.632													5	7					0	0	0	0	A	138842247	G	A	138842247	2	1	183	1	0	0	0	0	0	0	0	1	4935	1103	39	1		1	ECSCR	5	138842247	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	1242275	138842247	42073013	48	32026											
PCDHA11	56138	broad.mit.edu	37	chr5	140250408	140250408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggctggcagcgcgggaGgcgcagttaacaagctagta	10	6	15	10	3	1	0	1	0	0	0	1	1	1	1	0	4	3	6	0	4	4	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr5:140250408G>A	ENST00000398640.2	+	1	1720	c.1720G>A	c.(1720-1722)Ggc>Agc	p.G574S	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGCGGGAGGCGCAGTTAA	0.667													64	73					0	0	0	0	A	140250408	G	A	140250408	3	1	183	1	0	0	0	0	1	0	0	0	11592	1000	35	4	1722	4	PCDHA11	5	140250408	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	1408161	140250408	40664852	49	32027											
SLC35B3	51000	broad.mit.edu	37	chr6	8421006	8421006	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcgagggtaaaccatatCaggccaaggctcatacatat	14	8	9	10	1	3	0	3	0	0	0	3	1	3	0	2	3	3	2	2	3	6	4			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr6:8421006C>T	ENST00000379660.4	-	6	1079	c.630G>A	c.(628-630)ctG>ctA	p.L210L	SLC35B3_ENST00000339306.5_Silent_p.L210L	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	210					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TAAACCATATCAGGCCAAGGC	0.388													37	111					0	0	0	0	T	8421006	C	T	8421006	2	4	183	1	0	0	0	0	0	0	0	1	14665	813	29	2		2	SLC35B3	6	8421006	Silent	SNP	C	TCGA-CR-6480-01A-11D-1870-08		8421006	162694061	50	32028											
NHLRC1	378884	broad.mit.edu	37	chr6	18122141	18122141	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggaccctgcctccgcatCagttaccacaatcccattct	9	9	6	17	1	2	0	1	0	1	0	4	1	4	1	5	1	2	2	5	1	2	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr6:18122141C>G	ENST00000340650.3	-	1	710	c.697G>C	c.(697-699)Gat>Cat	p.D233H		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	233			D -> A (in EPM2).		proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GCCTCCGCATCAGTTACCACA	0.542													12	38					0	0	0	0	G	18122141	C	G	18122141	3	3	183	1	0	0	0	0	1	0	0	0	10475	826	29	2	494	2	NHLRC1	6	18122141	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	9701135	18122141	152992926	51	32029											
DST	667	broad.mit.edu	37	chr6	56496810	56496810	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcgaacttcagagatgtaGagattataaactgattcctc	13	14	7	7	1	1	3	1	1	0	2	4	6	2	3	1	0	2	1	1	0	5	6			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr6:56496810G>C	ENST00000370754.5	-	28	3734	c.3735C>G	c.(3733-3735)ctC>ctG	p.L1245L	DST_ENST00000312431.6_Silent_p.L1067L|DST_ENST00000446842.2_Silent_p.L741L|DST_ENST00000370765.6_Silent_p.L741L|DST_ENST00000244364.6_Silent_p.L741L|DST_ENST00000370769.4_Silent_p.L1067L|DST_ENST00000518935.1_Silent_p.L741L|DST_ENST00000421834.2_Silent_p.L1067L|DST_ENST00000370788.2_Silent_p.L1067L|DST_ENST00000361203.3_Silent_p.L1067L			Q03001	DYST_HUMAN	dystonin	1067					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGAGATGTAGAGATTATAAA	0.348													17	38					0	0	0	0	C	56496810	G	C	56496810	2	2	183	1	0	0	0	0	0	0	0	1	4819	929	33	2		2	DST	6	56496810	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	38374669	56496810	114618257	52	32030											
ACTB	60	broad.mit.edu	37	chr7	5568921	5568921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttctccatgtcgtcccaGttggtgacgatgccgtgctc	5	14	10	12	3	1	1	0	1	1	0	5	2	2	1	3	1	2	2	3	1	0	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:5568921G>C	ENST00000331789.5	-	3	425	c.234C>G	c.(232-234)aaC>aaG	p.N78K		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	78					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGTCGTCCCAGTTGGTGACGA	0.607													33	48					0	0	0	0	C	5568921	G	C	5568921	3	2	183	1	0	0	0	0	1	0	0	0	193	1020	36	4	909	4	ACTB	7	5568921	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08		5568921	153569742	53	32031											
ICA1	3382	broad.mit.edu	37	chr7	8196806	8196806	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctcatggatggctgccatAgtgtgagaagttttctccca	8	13	10	10	0	2	1	1	1	2	1	4	3	2	2	2	2	1	2	2	2	2	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:8196806A>T	ENST00000402384.3	-	8	1010	c.744T>A	c.(742-744)acT>acA	p.T248T	ICA1_ENST00000396675.3_Silent_p.T248T|ICA1_ENST00000401396.1_Silent_p.T236T|ICA1_ENST00000406470.2_Silent_p.T248T|ICA1_ENST00000407906.1_Silent_p.T248T|ICA1_ENST00000265577.7_Silent_p.T247T|ICA1_ENST00000422063.2_Silent_p.T248T			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	248	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGGCTGCCATAGTGTGAGAAG	0.398													6	88					0	0	0	0	T	8196806	A	T	8196806	2	4	183	1	0	0	0	0	0	0	0	1	7530	407	15	5		5	ICA1	7	8196806	Silent	SNP	A	TCGA-CR-6480-01A-11D-1870-08	2627885	8196806	150941857	54	32032											
WBSCR17	64409	broad.mit.edu	37	chr7	70597882	70597882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaagtgccggcccatcGcggtgcgcagcggagacgcc	6	4	16	15	6	0	1	0	0	0	1	1	2	0	1	4	4	3	1	4	4	1	0			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:70597882G>A	ENST00000333538.5	+	1	728	c.94G>A	c.(94-96)Gcg>Acg	p.A32T		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	32						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGGCCCATCGCGGTGCGCAG	0.637													9	16					0	0	0	0	A	70597882	G	A	70597882	3	1	183	1	0	0	0	0	1	0	0	0	17360	1087	38	1	96	1	WBSCR17	7	70597882	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	62401076	70597882	88540781	55	32033											
NAPEPLD	222236	broad.mit.edu	37	chr7	102743916	102743916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatttaggtatcttgattctCcatgcttcaagacaaaaaaa	15	14	5	7	0	3	2	1	1	2	1	4	2	3	2	1	1	1	2	1	1	7	7			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:102743916C>T	ENST00000417955.1	-	5	1296	c.1142G>A	c.(1141-1143)gGa>gAa	p.G381E	NAPEPLD_ENST00000465647.1_Missense_Mutation_p.G381E|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.G454E|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.G381E|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.G381E			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	381					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCTTGATTCTCCATGCTTCAA	0.348													29	59					0	0	0	0	T	102743916	C	T	102743916	3	4	183	1	0	0	0	0	1	0	0	0	10233	855	30	2	43	2	NAPEPLD	7	102743916	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	32146034	102743916	56394747	56	32034											
HBP1	26959	broad.mit.edu	37	chr7	106826251	106826251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgctttattttagatcatCtcctgtacacatcatagcca	10	16	5	10	0	3	1	2	0	1	1	4	1	3	1	2	0	3	3	2	0	4	7			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:106826251C>G	ENST00000222574.4	+	4	590	c.404C>G	c.(403-405)tCt>tGt	p.S135C	HBP1_ENST00000485846.1_Missense_Mutation_p.S135C|HBP1_ENST00000468410.1_Missense_Mutation_p.S135C	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	135					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TTTAGATCATCTCCTGTACAC	0.393													54	85					0	0	0	0	G	106826251	C	G	106826251	3	3	183	1	0	0	0	0	1	0	0	0	7035	913	32	2	414	2	HBP1	7	106826251	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	4082335	106826251	52312412	57	32035											
NRCAM	4897	broad.mit.edu	37	chr7	107880487	107880487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagataagcgcttcttttTcggcattattttaagctgca	9	15	8	9	3	1	1	0	0	1	1	2	1	1	1	0	1	3	5	0	1	3	7			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:107880487T>C	ENST00000379028.3	-	4	492	c.22A>G	c.(22-24)Aaa>Gaa	p.K8E	NRCAM_ENST00000425651.2_Missense_Mutation_p.K8E|NRCAM_ENST00000413765.2_Missense_Mutation_p.K8E|NRCAM_ENST00000379022.4_Missense_Mutation_p.K8E|NRCAM_ENST00000379024.4_Missense_Mutation_p.K8E|NRCAM_ENST00000351718.4_Missense_Mutation_p.K8E			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	8					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CGCTTCTTTTTCGGCATTATT	0.418													45	69					0	0	0	0	C	107880487	T	C	107880487	3	2	183	1	0	0	0	0	1	0	0	0	10715	1792	62	5	4042	5	NRCAM	7	107880487	Missense_Mutation	SNP	T	TCGA-CR-6480-01A-11D-1870-08	1054236	107880487	51258176	58	32036											
POT1	25913	broad.mit.edu	37	chr7	124481048	124481048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctatcaaaagtagacattCatttgaaagcgggagaatac	16	11	8	6	1	3	3	2	1	1	2	3	4	3	3	0	1	2	1	0	1	7	6			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:124481048C>T	ENST00000357628.3	-	14	1946	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	POT1_ENST00000393329.1_Missense_Mutation_p.E319K	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	450					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AGTAGACATTCATTTGAAAGC	0.269													30	77					0	0	0	0	T	124481048	C	T	124481048	3	4	183	1	0	0	0	0	1	0	0	0	12332	835	29	2	580	2	POT1	7	124481048	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	16600561	124481048	34657615	59	32037											
FAM71F1	84691	broad.mit.edu	37	chr7	128359080	128359080	+	Silent	SNP	T	T	A																															accaccaaagaccctaggatTcttgtcacgcactgcctggt																										TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:128359080T>A	ENST00000315184.5	+	3	683	c.630T>A	c.(628-630)atT>atA	p.I210I	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Silent_p.I111I	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	210										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						ACCCTAGGATTCTTGTCACGC	0.537													5	108					0	0	0	0	A	128359080	T	A	128359080	2	1	183	1	0	0	0	0	0	0	0	1	5658	1771	62	5		5	FAM71F1	7	128359080	Silent	SNP	T	TCGA-CR-6480-01A-11D-1870-08	3878032	128359080	30779583	60	32038	243	2									
FAM71F1	84691	broad.mit.edu	37	chr7	128359081	128359081	+	Missense_Mutation	SNP	C	C	G																															ccaccaaagaccctaggattCttgtcacgcactgcctggta																										TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:128359081C>G	ENST00000315184.5	+	3	684	c.631C>G	c.(631-633)Ctt>Gtt	p.L211V	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.L112V	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	211										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCCTAGGATTCTTGTCACGCA	0.542													5	105					0	0	0	0	G	128359081	C	G	128359081	3	3	183	1	0	0	0	0	1	0	0	0	5658	913	32	2	641	2	FAM71F1	7	128359081	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	1	128359081	30779582	61	32039	243	2									
DENND2A	27147	broad.mit.edu	37	chr7	140266910	140266910	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagggaactgttgggtgagTtctggcacgtaggcagcccc	8	8	16	9	1	1	2	0	1	1	1	1	3	1	3	2	4	2	5	2	4	2	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:140266910T>A	ENST00000275884.6	-	8	2172	c.1755A>T	c.(1753-1755)gaA>gaT	p.E585D	DENND2A_ENST00000492720.1_Missense_Mutation_p.E585D|DENND2A_ENST00000537639.1_Missense_Mutation_p.E585D|DENND2A_ENST00000496613.1_Missense_Mutation_p.E585D			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	585	UDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTTGGGTGAGTTCTGGCACGT	0.562													6	5					0	0	0	0	A	140266910	T	A	140266910	3	1	183	1	0	0	0	0	1	0	0	0	4466	1722	60	5	1322	5	DENND2A	7	140266910	Missense_Mutation	SNP	T	TCGA-CR-6480-01A-11D-1870-08	11907829	140266910	18871753	62	32040											
GSTK1	373156	broad.mit.edu	37	chr7	142965251	142965251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgttatttggctctgaccGgatggagctgctggcgcacc	6	11	13	11	2	1	1	0	1	1	0	1	3	1	3	2	4	2	5	2	4	1	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr7:142965251G>A	ENST00000479303.1	+	6	831	c.773G>A	c.(772-774)cGg>cAg	p.R258Q	GSTK1_ENST00000409500.3_Missense_Mutation_p.R190Q|GSTK1_ENST00000443571.2_Missense_Mutation_p.R159Q|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000358406.5_Missense_Mutation_p.R202Q	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	202						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	GGCTCTGACCGGATGGAGCTG	0.552													5	325					0	0	0	0	A	142965251	G	A	142965251	3	1	183	1	0	0	0	0	1	0	0	0	6886	1116	39	1	795	1	GSTK1	7	142965251	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	2698341	142965251	16173412	63	32041											
UNC5D	137970	broad.mit.edu	37	chr8	35616853	35616853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tataggaagtggtttcagatGaaaggcatcaaggtggacag	14	9	14	4	0	2	2	2	1	0	1	2	4	2	4	0	5	0	2	0	5	5	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr8:35616853G>A	ENST00000287272.2	+	13	1992	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	UNC5D_ENST00000449677.1_Missense_Mutation_p.E303K|UNC5D_ENST00000416672.1_Missense_Mutation_p.E732K|UNC5D_ENST00000420357.1_Missense_Mutation_p.E660K|UNC5D_ENST00000404895.2_Missense_Mutation_p.E727K|UNC5D_ENST00000453357.2_Missense_Mutation_p.E722K			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	727					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGTTTCAGATGAAAGGCATCA	0.378													37	70					0	0	0	0	A	35616853	G	A	35616853	3	1	183	1	0	0	0	0	1	0	0	0	17091	1291	45	2	2233	2	UNC5D	8	35616853	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08		35616853	110747169	64	32042											
RUNX1T1	862	broad.mit.edu	37	chr8	93027012	93027012	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggtggtgagggggcgccaTtcaaggctgtaggagaatgg	8	8	20	5	1	1	2	1	1	0	1	1	3	1	2	1	7	0	2	1	7	3	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr8:93027012T>C	ENST00000523629.1	-	4	717	c.263A>G	c.(262-264)aAt>aGt	p.N88S	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.N51S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.N88S|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.N51S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.N61S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.N51S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.N51S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.N99S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.N61S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	88					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)			GGGGGCGCCATTCAAGGCTGT	0.517													3	46					0	0	0	0	C	93027012	T	C	93027012	3	2	183	1	0	0	0	0	1	0	0	0	13832	1493	52	5	1587	5	RUNX1T1	8	93027012	Missense_Mutation	SNP	T	TCGA-CR-6480-01A-11D-1870-08	57410159	93027012	53337010	65	32043											
PLEC	5339	broad.mit.edu	37	chr8	144992204	144992204	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagctggtgccttccaGgaacttctgcaagttcttgg	7	12	12	10	0	2	0	0	0	2	0	3	2	3	1	2	3	5	4	2	3	2	4			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr8:144992204G>A	ENST00000322810.4	-	32	12365	c.12196C>T	c.(12196-12198)Ctg>Ttg	p.L4066L	PLEC_ENST00000527096.1_Silent_p.L3952L|PLEC_ENST00000357649.2_Silent_p.L3933L|PLEC_ENST00000354958.2_Silent_p.L3907L|PLEC_ENST00000345136.3_Silent_p.L3929L|PLEC_ENST00000356346.3_Silent_p.L3915L|PLEC_ENST00000436759.2_Silent_p.L3956L|PLEC_ENST00000398774.2_Silent_p.L3897L|PLEC_ENST00000354589.3_Silent_p.L3929L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4066	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGCCTTCCAGGAACTTCTGC	0.642													7	8					0	0	0	0	A	144992204	G	A	144992204	2	1	183	1	0	0	0	0	0	0	0	1	12124	991	35	4		4	PLEC	8	144992204	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	51965192	144992204	1371818	66	32044											
KIAA0020	9933	broad.mit.edu	37	chr9	2829887	2829887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgatgcttccgcatgccGcagcatcttcctcacgtggc	5	10	11	15	3	2	1	1	1	1	0	4	1	4	1	3	2	3	5	3	2	0	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:2829887G>A	ENST00000397885.2	-	8	945	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	247	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCCGCATGCCGCAGCATCTTC	0.438													5	122					0	0	0	0	A	2829887	G	A	2829887	3	1	183	1	0	0	0	0	1	0	0	0	8203	1086	38	1	1251	1	KIAA0020	9	2829887	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08		2829887	138383544	67	32045											
KIAA2026	158358	broad.mit.edu	37	chr9	5968103	5968103	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtaagacttgaatgcaaGagaatgaagaccttcacgct	14	11	9	7	1	1	5	1	2	0	3	1	6	1	5	1	0	1	3	1	0	5	4			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:5968103G>C	ENST00000399933.3	-	3	2127	c.2128C>G	c.(2128-2130)Ctt>Gtt	p.L710V	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L710V	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	710	Lys-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGAATGCAAGAGAATGAAGA	0.308													3	6					0	0	0	0	C	5968103	G	C	5968103	3	2	183	1	0	0	0	0	1	0	0	0	8321	942	33	2	4207	2	KIAA2026	9	5968103	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	3138216	5968103	135245328	68	32046											
KIAA2026	158358	broad.mit.edu	37	chr9	5968206	5968206	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctcattttagttagtttGagtttcttgtggctctgtag	5	19	10	7	0	3	1	1	1	2	0	3	1	3	1	1	1	0	5	1	1	3	7			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:5968206G>A	ENST00000399933.3	-	3	2024	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L	KIAA2026_ENST00000381461.2_Silent_p.L675L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	675	Lys-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TAGTTAGTTTGAGTTTCTTGT	0.333													23	41					0	0	0	0	A	5968206	G	A	5968206	2	1	183	1	0	0	0	0	0	0	0	1	8321	1277	45	2		2	KIAA2026	9	5968206	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	103	5968206	135245225	69	32047											
PTPRD	5789	broad.mit.edu	37	chr9	8484233	8484233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggtgcagtctttgccGtgaccctgtgctgcagccca	5	11	11	14	1	2	1	0	1	2	0	2	1	2	1	3	1	5	3	3	1	0	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:8484233G>A	ENST00000381196.4	-	27	3842	c.3299C>T	c.(3298-3300)aCg>aTg	p.T1100M	PTPRD_ENST00000486161.1_Missense_Mutation_p.T689M|PTPRD_ENST00000356435.5_Missense_Mutation_p.T1100M|PTPRD_ENST00000355233.5_Missense_Mutation_p.T689M|PTPRD_ENST00000397606.3_Missense_Mutation_p.T679M|PTPRD_ENST00000397611.3_Missense_Mutation_p.T686M|PTPRD_ENST00000397617.3_Missense_Mutation_p.T679M|PTPRD_ENST00000540109.1_Missense_Mutation_p.T1100M|PTPRD_ENST00000360074.4_Missense_Mutation_p.T1087M|PTPRD_ENST00000537002.1_Missense_Mutation_p.T686M|PTPRD_ENST00000358503.5_Missense_Mutation_p.T1078M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1100	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTCTTTGCCGTGACCCTGTG	0.483										TSP Lung(15;0.13)			24	49					0	0	0	0	A	8484233	G	A	8484233	3	1	183	1	0	0	0	0	1	0	0	0	12881	1145	40	1	2572	1	PTPRD	9	8484233	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	2516027	8484233	132729198	70	32048											
DNAJA1	3301	broad.mit.edu	37	chr9	33030454	33030454	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaggtagaggaggtaagaaAggagcagtagagtgctgtcc	13	8	16	4	0	0	3	0	0	0	3	1	5	1	5	1	4	2	5	1	4	5	4			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:33030454A>G	ENST00000330899.4	+	5	615	c.432A>G	c.(430-432)aaA>aaG	p.K144K	DNAJA1_ENST00000544625.1_5'UTR|DNAJA1_ENST00000495015.1_Intron	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	144					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		GAGGTAAGAAAGGAGCAGTAG	0.353													11	8					0	0	0	0	G	33030454	A	G	33030454	2	3	183	1	0	0	0	0	0	0	0	1	4647	69	3	5		5	DNAJA1	9	33030454	Silent	SNP	A	TCGA-CR-6480-01A-11D-1870-08	24546221	33030454	108182977	71	32049											
RECK	8434	broad.mit.edu	37	chr9	36117110	36117110	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgacacagaccacatggAgcacaacaatctctgcactt	13	9	7	12	0	1	2	0	1	1	1	2	3	1	3	1	1	3	2	1	1	2	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:36117110A>G	ENST00000377966.3	+	17	2755	c.2189A>G	c.(2188-2190)gAg>gGg	p.E730G		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	730	Kazal-like 2.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GACCACATGGAGCACAACAAT	0.453													5	52					0	0	0	0	G	36117110	A	G	36117110	3	3	183	1	0	0	0	0	1	0	0	0	13282	304	11	5	2255	5	RECK	9	36117110	Missense_Mutation	SNP	A	TCGA-CR-6480-01A-11D-1870-08	3086656	36117110	105096321	72	32050											
PTAR1	375743	broad.mit.edu	37	chr9	72338300	72338300	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataagatcagtgctgaattCaacttcttcttctagaagat	14	14	6	7	0	5	4	2	1	3	3	5	4	5	4	0	0	2	1	0	0	6	6			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:72338300C>G	ENST00000377200.5	-	4	654	c.652G>C	c.(652-654)Gaa>Caa	p.E218Q	PTAR1_ENST00000340434.4_Missense_Mutation_p.E297Q			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	297					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GTGCTGAATTCAACTTCTTCT	0.408													59	90					0	0	0	0	G	72338300	C	G	72338300	3	3	183	1	0	0	0	0	1	0	0	0	12803	835	29	2	331	2	PTAR1	9	72338300	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	36221190	72338300	68875131	73	32051											
COL5A1	1289	broad.mit.edu	37	chr9	137734077	137734077	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtgcccatcgtggacatCatgttcaatgacttcggtga	9	11	11	10	2	2	2	2	2	0	0	4	3	2	3	1	3	1	1	1	3	1	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr9:137734077C>T	ENST00000371817.3	+	66	5859	c.5445C>T	c.(5443-5445)atC>atT	p.I1815I		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1815	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGTGGACATCATGTTCAATG	0.582													14	25					0	0	0	0	T	137734077	C	T	137734077	2	4	183	1	0	0	0	0	0	0	0	1	3726	816	29	2		2	COL5A1	9	137734077	Silent	SNP	C	TCGA-CR-6480-01A-11D-1870-08	65395777	137734077	3479354	74	32052											
PRKCQ	5588	broad.mit.edu	37	chr10	6506278	6506278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttaaagcctcttacgtcGctctggaaaggtcgaacttg	9	12	9	11	3	2	0	0	0	2	0	4	2	2	1	2	2	3	1	2	2	5	4			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:6506278G>A	ENST00000263125.5	-	13	1541	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.A481V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.A356V	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	481	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CTCTTACGTCGCTCTGGAAAG	0.448													88	275					0	0	0	0	A	6506278	G	A	6506278	3	1	183	1	0	0	0	0	1	0	0	0	12595	1087	38	1	702	1	PRKCQ	10	6506278	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08		6506278	129028469	75	32053											
ANK3	288	broad.mit.edu	37	chr10	61828403	61828403	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcattctcaccagtccttCtactgctccttttctcactg	5	17	3	16	0	4	0	3	0	3	0	8	0	6	0	3	0	2	1	3	0	1	6			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61828403C>G	ENST00000280772.1	-	37	12427	c.12236G>C	c.(12235-12237)aGa>aCa	p.R4079T	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4079					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACCAGTCCTTCTACTGCTCCT	0.473													56	100					0	0	0	0	G	61828403	C	G	61828403	3	3	183	1	0	0	0	0	1	0	0	0	622	913	32	2	1238	2	ANK3	10	61828403	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	55322125	61828403	73706344	76	32054			3	45		8	8	3551	C		3.361318e-17
ANK3	288	broad.mit.edu	37	chr10	61829289	61829289	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgttgttattaaagttatCtttttgaaaatcatgttttt	10	23	6	2	0	2	1	1	1	1	0	2	1	2	1	0	0	0	5	0	0	6	9			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61829289C>G	ENST00000280772.1	-	37	11541	c.11350G>C	c.(11350-11352)Gat>Cat	p.D3784H	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3784					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTAAAGTTATCTTTTTGAAAA	0.343													64	96					0	0	0	0	G	61829289	C	G	61829289	3	3	183	1	0	0	0	0	1	0	0	0	622	913	32	2	2124	2	ANK3	10	61829289	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	886	61829289	73705458	77	32055			3	45		8	8	3551	C		3.361318e-17
ANK3	288	broad.mit.edu	37	chr10	61829440	61829440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccagggccttctttcttCatggtcatggtggatgcaga	6	14	11	10	0	5	1	2	0	3	1	6	2	5	2	2	4	1	1	2	4	0	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61829440C>T	ENST00000280772.1	-	37	11390	c.11199G>A	c.(11197-11199)atG>atA	p.M3733I	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3733					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTCTTTCTTCATGGTCATGG	0.428													106	151					0	0	0	0	T	61829440	C	T	61829440	3	4	183	1	0	0	0	0	1	0	0	0	622	826	29	2	2275	2	ANK3	10	61829440	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	151	61829440	73705307	78	32056			3	45		8	8	3551	C		3.361318e-17
ANK3	288	broad.mit.edu	37	chr10	61830234	61830234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggtcccacctttccctcctCctcgataacttcaagtttac	7	14	4	16	1	1	0	1	0	0	0	6	1	5	0	5	1	2	1	5	1	3	5			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61830234C>T	ENST00000280772.1	-	37	10596	c.10405G>A	c.(10405-10407)Gag>Aag	p.E3469K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3469					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCCCTCCTCCTCGATAACT	0.448													28	51					0	0	0	0	T	61830234	C	T	61830234	3	4	183	1	0	0	0	0	1	0	0	0	622	864	30	2	3069	2	ANK3	10	61830234	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	794	61830234	73704513	79	32057			3	45		8	8	3551	C		3.361318e-17
ANK3	288	broad.mit.edu	37	chr10	61831482	61831482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctttcctgggctaaactCtaaagaatcaggagatttgg	11	13	9	8	0	2	2	1	0	1	2	4	3	4	2	2	3	1	1	2	3	5	5			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61831482C>G	ENST00000280772.1	-	37	9348	c.9157G>C	c.(9157-9159)Gag>Cag	p.E3053Q	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3053					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGGCTAAACTCTAAAGAATCA	0.473													56	82					0	0	0	0	G	61831482	C	G	61831482	3	3	183	1	0	0	0	0	1	0	0	0	622	922	32	2	4317	2	ANK3	10	61831482	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	1248	61831482	73703265	80	32058			3	45		8	8	3551	C		3.361318e-17
ANK3	288	broad.mit.edu	37	chr10	61831782	61831782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgacactgctgagctctCgctcctcctggaaggctgat	6	11	12	12	1	1	3	0	3	1	0	4	4	3	4	2	2	2	4	2	2	1	0			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61831782C>T	ENST00000280772.1	-	37	9048	c.8857G>A	c.(8857-8859)Gag>Aag	p.E2953K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2953					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTGAGCTCTCGCTCCTCCTG	0.468													24	54					0	0	0	0	T	61831782	C	T	61831782	3	4	183	1	0	0	0	0	1	0	0	0	622	893	31	1	4617	1	ANK3	10	61831782	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	300	61831782	73702965	81	32059			3	45		8	8	3551	C		3.361318e-17
ANK3	288	broad.mit.edu	37	chr10	61831830	61831830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgcctggatggtccccttCtttcacaacatattccctat	7	14	5	15	1	2	0	1	0	1	0	5	1	5	1	5	2	1	0	5	2	3	5			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61831830C>T	ENST00000280772.1	-	37	9000	c.8809G>A	c.(8809-8811)Gaa>Aaa	p.E2937K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2937					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGTCCCCTTCTTTCACAACA	0.443													14	38					0	0	0	0	T	61831830	C	T	61831830	3	4	183	1	0	0	0	0	1	0	0	0	622	922	32	2	4665	2	ANK3	10	61831830	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	48	61831830	73702917	82	32060			3	45		8	8	3551	C		3.361318e-17
ANK3	288	broad.mit.edu	37	chr10	61831953	61831953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagtcacagacataaattCattcttttgatcaacacttt	13	15	3	10	0	5	2	4	1	1	1	5	2	5	2	0	0	1	0	0	0	3	6			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:61831953C>T	ENST00000280772.1	-	37	8877	c.8686G>A	c.(8686-8688)Gaa>Aaa	p.E2896K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2896					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GACATAAATTCATTCTTTTGA	0.353													20	52					0	0	0	0	T	61831953	C	T	61831953	3	4	183	1	0	0	0	0	1	0	0	0	622	835	29	2	4788	2	ANK3	10	61831953	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	123	61831953	73702794	83	32061			3	45		8	8	3551	C		3.361318e-17
PAX2	5076	broad.mit.edu	37	chr10	102568873	102568873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctctcctcccaggggaacGagtactccctcccagccctg	6	8	8	19	1	1	0	0	0	1	0	6	2	5	1	5	2	3	1	5	2	2	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:102568873G>A	ENST00000370296.2	+	8	1418	c.868G>A	c.(868-870)Gag>Aag	p.E290K	PAX2_ENST00000428433.1_Missense_Mutation_p.E290K|PAX2_ENST00000361791.3_Missense_Mutation_p.E267K|PAX2_ENST00000355243.3_Missense_Mutation_p.E267K|PAX2_ENST00000556085.1_Missense_Mutation_p.E266K			Q02962	PAX2_HUMAN	paired box 2	290					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCAGGGGAACGAGTACTCCCT	0.587													40	111					0	0	0	0	A	102568873	G	A	102568873	3	1	183	1	0	0	0	0	1	0	0	0	11550	1059	37	1	898	1	PAX2	10	102568873	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	40736920	102568873	32965874	84	32062											
C10orf76	79591	broad.mit.edu	37	chr10	103799781	103799781	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggccttaccatgaagatctCatcatacatcagcaccactt	13	10	5	13	0	3	2	3	1	1	1	4	2	3	2	3	1	3	1	3	1	3	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:103799781C>G	ENST00000370033.4	-	2	210	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	C10orf76_ENST00000311122.5_Missense_Mutation_p.E31Q	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	31						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		ATGAAGATCTCATCATACATC	0.458													67	129					0	0	0	0	G	103799781	C	G	103799781	3	3	183	1	0	0	0	0	1	0	0	0	1626	835	29	2	2078	2	C10orf76	10	103799781	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	1230908	103799781	31734966	85	32063											
KIAA1598	57698	broad.mit.edu	37	chr10	118646072	118646072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctgcatccaatgctactgGgaggcctatgagatgaagag	11	9	12	9	0	0	3	0	2	0	2	2	5	2	4	3	2	3	2	3	2	4	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr10:118646072G>T	ENST00000355371.4	-	17	2176	c.1679C>A	c.(1678-1680)cCc>cAc	p.P560H	KIAA1598_ENST00000392903.2_Missense_Mutation_p.P560H|ENO4_ENST00000369207.2_Intron|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_Silent_p.S455S	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	560					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AATGCTACTGGGAGGCCTATG	0.373													26	48					4.7796e-09	5.1082e-09	1	0	T	118646072	G	T	118646072	3	4	183	1	0	0	0	0	1	0	0	0	8297	1232	43	4	220	4	KIAA1598	10	118646072	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	14846291	118646072	16888675	86	32064											
DCDC1	341019	broad.mit.edu	37	chr11	31125289	31125289	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcactcactcggtcaaaggtCaaacccaaagcaagatttag	15	7	8	11	1	3	1	3	0	0	1	4	1	3	1	1	2	2	2	1	2	5	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr11:31125289C>G	ENST00000597505.1	-	12	1778	c.1779G>C	c.(1777-1779)ttG>ttC	p.L593F	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGTCAAAGGTCAAACCCAAAG	0.373													26	58					0	0	0	0	G	31125289	C	G	31125289	3	3	183	1	0	0	0	0	1	0	0	0	4316	841	29	2		2	DCDC1	11	31125289	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08		31125289	103881227	87	32065											
PLCB3	5331	broad.mit.edu	37	chr11	64022744	64022744	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcaagctggctatgaacatCctggctcagaacgcctcccg	9	9	9	14	2	2	2	2	1	0	1	4	2	4	2	3	2	3	3	3	2	4	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr11:64022744C>T	ENST00000540288.1	+	5	529	c.426C>T	c.(424-426)atC>atT	p.I142I	PLCB3_ENST00000279230.6_Silent_p.I142I|PLCB3_ENST00000325234.5_Silent_p.I75I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	142					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CTATGAACATCCTGGCTCAGA	0.647													11	22					0	0	0	0	T	64022744	C	T	64022744	2	4	183	1	0	0	0	0	0	0	0	1	12101	845	30	2		2	PLCB3	11	64022744	Silent	SNP	C	TCGA-CR-6480-01A-11D-1870-08	32897455	64022744	70983772	88	32066											
FGF19	9965	broad.mit.edu	37	chr11	69514326	69514326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctcctcgaaagcacagtCttcctccgagtactgaagct	9	10	7	15	2	1	1	0	1	1	0	6	3	5	1	4	0	3	3	4	0	3	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr11:69514326C>T	ENST00000294312.3	-	3	1120	c.355G>A	c.(355-357)Gac>Aac	p.D119N		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	119					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			AAAGCACAGTCTTCCTCCGAG	0.567													10	17					0	0	0	0	T	69514326	C	T	69514326	3	4	183	1	0	0	0	0	1	0	0	0	5892	913	32	2	299	2	FGF19	11	69514326	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	5491582	69514326	65492190	89	32067											
POLD3	10714	broad.mit.edu	37	chr11	74340350	74340350	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatcaaacttcctgaatctGatagcagtgaagatgaaggt	15	10	10	6	0	2	5	1	4	1	1	3	6	3	5	1	1	2	1	1	1	6	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr11:74340350G>C	ENST00000263681.2	+	9	1117	c.988G>C	c.(988-990)Gat>Cat	p.D330H	POLD3_ENST00000532497.1_Missense_Mutation_p.D224H|POLD3_ENST00000527458.1_Missense_Mutation_p.D291H	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	330					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					TCCTGAATCTGATAGCAGTGA	0.398													40	41					0	0	0	0	C	74340350	G	C	74340350	3	2	183	1	0	0	0	0	1	0	0	0	12264	1290	45	2	1022	2	POLD3	11	74340350	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	4826024	74340350	60666166	90	32068											
GRM5	2915	broad.mit.edu	37	chr11	88717906	88717906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acggtttattaaagctatagGagaaagaaaggtatttattt	16	14	9	2	1	0	2	0	0	0	2	0	3	0	2	0	3	1	3	0	3	9	9			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr11:88717906G>T	ENST00000393294.3	-	4	1231	c.862C>A	c.(862-864)Cct>Act	p.P288T	GRM5_ENST00000305432.5_Intron|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305447.4_Intron|GRM5_ENST00000418177.2_Intron|GRM5_ENST00000455756.2_Intron			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	0					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AAAGCTATAGGAGAAAGAAAG	0.303													3	2					6.4e-05	6.51429e-05	1	0	T	88717906	G	T	88717906	3	4	183	1	0	0	0	0	1	0	0	0	6850	1189	41	2		2	GRM5	11	88717906	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	14377556	88717906	46288610	91	32069											
APOA5	116519	broad.mit.edu	37	chr11	116661546	116661546	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgctccatcagatccatCgtgtagggcttcagttgctg	7	12	10	12	1	2	1	2	0	0	1	5	1	4	1	3	1	2	5	3	1	1	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr11:116661546C>T	ENST00000542499.1	-	4	471	c.399G>A	c.(397-399)acG>acA	p.T133T	APOA5_ENST00000227665.4_Silent_p.T133T	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	133					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TCAGATCCATCGTGTAGGGCT	0.652													28	17					0	0	0	0	T	116661546	C	T	116661546	2	4	183	1	0	0	0	0	0	0	0	1	786	871	31	1		1	APOA5	11	116661546	Silent	SNP	C	TCGA-CR-6480-01A-11D-1870-08	27943640	116661546	18344970	92	32070											
FOXM1	2305	broad.mit.edu	37	chr12	2968408	2968408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaagtactgggcccctctGagaagagcagctccggctca	9	6	14	12	1	2	2	1	1	1	2	3	4	3	3	3	3	3	4	3	3	3	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr12:2968408G>A	ENST00000342628.2	-	10	1915	c.1802C>T	c.(1801-1803)tCa>tTa	p.S601L	ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Missense_Mutation_p.S548L|FOXM1_ENST00000359843.3_Missense_Mutation_p.S563L	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	563					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGGCCCCTCTGAGAAGAGCAG	0.612													20	30					0	0	0	0	A	2968408	G	A	2968408	3	1	183	1	0	0	0	0	1	0	0	0	6065	1294	45	2	607	2	FOXM1	12	2968408	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08		2968408	130883487	93	32071											
ANO2	57101	broad.mit.edu	37	chr12	6031929	6031929	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccccctctggaccctgcctGagggctcagccggcgtgggg	3	6	16	16	2	2	1	1	1	1	0	2	2	2	2	5	5	2	1	5	5	0	0			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr12:6031929G>A	ENST00000546188.1	-	2	123	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	ANO2_ENST00000356134.5_Nonsense_Mutation_p.Q18*|ANO2_ENST00000327087.8_Nonsense_Mutation_p.Q18*			Q9NQ90	ANO2_HUMAN	anoctamin 2	22						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GACCCTGCCTGAGGGCTCAGC	0.622													10	18					0	0	0	0	A	6031929	G	A	6031929	4	1	183	1	0	0	0	0	0	1	0	0	696	1299	45	2	3044	2	ANO2	12	6031929	Nonsense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	3063521	6031929	127819966	94	32072											
TAS2R31	259290	broad.mit.edu	37	chr12	11183373	11183373	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatagcagggtcagagtgaAgggcactaagtttcctagcg	12	8	13	8	1	1	2	1	1	0	1	2	2	2	2	1	2	2	3	1	2	4	4			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr12:11183373A>T	ENST00000390675.2	-	1	633	c.562T>A	c.(562-564)Ttc>Atc	p.F188I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	188					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						GTCAGAGTGAAGGGCACTAAG	0.428													41	92					0	0	0	0	T	11183373	A	T	11183373	3	4	183	1	0	0	0	0	1	0	0	0	15665	72	3	5	371	5	TAS2R31	12	11183373	Missense_Mutation	SNP	A	TCGA-CR-6480-01A-11D-1870-08	5151444	11183373	122668522	95	32073											
CDKN1B	1027	broad.mit.edu	37	chr12	12871106	12871106	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagagccaggatgtcagcggGagccgcccggcggcgccttt	6	5	17	13	5	1	1	1	0	0	1	1	4	1	3	4	4	3	0	4	4	0	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr12:12871106G>A	ENST00000228872.4	+	1	1049	c.333G>A	c.(331-333)ggG>ggA	p.G111G	CDKN1B_ENST00000396340.1_Silent_p.G111G|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	111					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		ATGTCAGCGGGAGCCGCCCGG	0.647													32	42					0	0	0	0	A	12871106	G	A	12871106	2	1	183	1	0	0	0	0	0	0	0	1	3188	1161	41	2		2	CDKN1B	12	12871106	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	1687733	12871106	120980789	96	32074											
PCBP2	5094	broad.mit.edu	37	chr12	53861083	53861083	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acaccggattcagtggtatgGatacctcagtgtttatttct	9	15	9	8	1	3	0	2	0	1	0	3	2	3	2	2	3	1	2	2	3	3	6			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr12:53861083G>C	ENST00000541275.1	+	13	1342	c.793G>C	c.(793-795)Gat>Cat	p.D265H	PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000552296.2_Intron|PCBP2_ENST00000549863.1_Intron|PCBP2_ENST00000548933.1_Intron|PCBP2_ENST00000546463.1_Intron|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Intron|PCBP2_ENST00000447282.1_Intron|PCBP2_ENST00000439930.3_Intron|PCBP2_ENST00000437231.1_Intron|PCBP2_ENST00000359462.5_Intron|PCBP2_ENST00000359282.5_Intron|PCBP2_ENST00000603815.1_Intron			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	269					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CAGTGGTATGGATACCTCAGT	0.468													39	60					0	0	0	0	C	53861083	G	C	53861083	3	2	183	1	0	0	0	0	1	0	0	0	11572	1189	41	2		2	PCBP2	12	53861083	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	40989977	53861083	79990812	97	32075											
ANKRD13A	88455	broad.mit.edu	37	chr12	110463612	110463618	+	Frame_Shift_Del	DEL	AAAAAAG	AAAAAAG	-																															gaacatctgaccgaggaggaAaaaaagagatataaaggtaa																										TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr12:110463612_110463618delAAAAAAG	ENST00000261739.4	+	8	1033_1039	c.867_873delAAAAAAG	c.(865-873)gafs	p.EKK289fs		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	289										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CCGAGGAGGAAAAAAAGAGATATAAAG	0.406													12	92	---	---	---	---					-	110463618	AAAAAAG	-	110463612	7	5	183	1	0	1	0	1	0	0	0	0	641	11	1	0	897	0	ANKRD13A	12	110463612	Frame_Shift_Del	DEL	AAAAAAG	TCGA-CR-6480-01A-11D-1870-08	56602529	110463612	23388283	98	32076											
VSIG10	54621	broad.mit.edu	37	chr12	118506244	118506244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattcaccaaggcggtcactCtgtgaatgtggtcctgctta	8	12	10	11	1	3	1	2	1	1	0	4	1	4	1	2	3	1	1	2	3	3	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr12:118506244C>G	ENST00000359236.5	-	8	1781	c.1505G>C	c.(1504-1506)aGa>aCa	p.R502T		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	502						integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GGCGGTCACTCTGTGAATGTG	0.468													37	77					0	0	0	0	G	118506244	C	G	118506244	3	3	183	1	0	0	0	0	1	0	0	0	17319	913	32	2	125	2	VSIG10	12	118506244	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	8042632	118506244	15345651	99	32077											
ATP5S	27109	broad.mit.edu	37	chr14	50789270	50789270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttggccctgacagggCggcatccgagtggttgctgc	5	9	17	10	2	0	1	0	1	0	0	1	3	1	2	2	5	2	4	2	5	0	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr14:50789270C>T	ENST00000245448.6	+	3	886	c.194C>T	c.(193-195)gCg>gTg	p.A65V	ATP5S_ENST00000358473.1_Missense_Mutation_p.A37V|ATP5S_ENST00000554438.1_3'UTR|ATP5S_ENST00000426751.2_Missense_Mutation_p.A65V|ATP5S_ENST00000311459.7_Missense_Mutation_p.A65V	NM_001003805.2	NP_001003805.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	65					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		CCTGACAGGGCGGCATCCGAG	0.527													20	40					0	0	0	0	T	50789270	C	T	50789270	3	4	183	1	0	0	0	0	1	0	0	0	1167	768	27	1	204	1	ATP5S	14	50789270	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08		50789270	56560270	100	32078											
ACOT2	10965	broad.mit.edu	37	chr14	74040259	74040259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctccatctggagtactttGaagaagccatgaactacttg	11	11	9	10	1	1	3	0	2	1	1	2	4	2	4	2	1	4	2	2	1	5	4			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr14:74040259G>A	ENST00000238651.5	+	2	993	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	ACOT2_ENST00000538782.1_Missense_Mutation_p.E74K	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	271					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GGAGTACTTTGAAGAAGCCAT	0.453													62	89					0	0	0	0	A	74040259	G	A	74040259	3	1	183	1	0	0	0	0	1	0	0	0	152	1291	45	2	817	2	ACOT2	14	74040259	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	23250989	74040259	33309281	101	32079											
C15orf52	388115	broad.mit.edu	37	chr15	40627456	40627456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgtgggccggcttctcGgggccaggccctgctgggcc	1	8	16	16	3	2	0	0	0	2	0	4	0	2	0	4	6	1	2	4	6	0	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr15:40627456G>C	ENST00000397536.2	-	7	913	c.878C>G	c.(877-879)cCg>cGg	p.P293R	C15orf52_ENST00000559313.1_Missense_Mutation_p.P503R			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	503										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CCGGCTTCTCGGGGCCAGGCC	0.667													5	127					0	0	0	0	C	40627456	G	C	40627456	3	2	183	1	0	0	0	0	1	0	0	0	1812	1116	39	3	100	3	C15orf52	15	40627456	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08		40627456	61903936	102	32080											
B2M	567	broad.mit.edu	37	chr15	45003747	45003747	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcattcgggccgagatGtctcgctccgtggccttagc	6	9	13	13	4	1	1	0	0	1	1	4	3	2	1	3	2	2	2	3	2	1	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr15:45003747G>T	ENST00000558401.1	+	1	73	c.3G>T	c.(1-3)atG>atT	p.M1I	B2M_ENST00000544417.1_Start_Codon_SNP_p.M1I|B2M_ENST00000559916.1_Start_Codon_SNP_p.M1I	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	1					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.M1I(1)|p.?(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GGGCCGAGATGTCTCGCTCCG	0.612													20	17					1.96895e-08	2.09124e-08	1	0	T	45003747	G	T	45003747	1	4	183	1	0	0	0	0	0	0	0	0	1248	1377	48	4		4	B2M	15	45003747	Translation_Start_Site	SNP	G	TCGA-CR-6480-01A-11D-1870-08	4376291	45003747	57527645	103	32081											
FBN1	2200	broad.mit.edu	37	chr15	48737641	48737641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcactggaaagaccccactGtattaatgcattggccattt	11	11	9	10	0	0	1	0	0	0	1	0	2	0	2	3	3	1	3	3	3	3	4			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr15:48737641G>C	ENST00000316623.5	-	48	6304	c.5849C>G	c.(5848-5850)aCa>aGa	p.T1950R		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1950	EGF-like 33; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGACCCCACTGTATTAATGCA	0.438													41	59					0	0	0	0	C	48737641	G	C	48737641	3	2	183	1	0	0	0	0	1	0	0	0	5747	1377	48	4	2842	4	FBN1	15	48737641	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	3733894	48737641	53793751	104	32082											
SLTM	79811	broad.mit.edu	37	chr15	59172279	59172279	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggaattgccactgatttgTacaattctattaattgggga	12	15	9	5	0	1	1	0	1	1	0	1	3	1	3	1	3	2	1	1	3	5	7			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr15:59172279T>C	ENST00000380516.2	-	21	3111	c.3024A>G	c.(3022-3024)gtA>gtG	p.V1008V	SLTM_ENST00000536328.1_Silent_p.V577V	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	1008					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACTGATTTGTACAATTCTAT	0.413													7	55					0	0	0	0	C	59172279	T	C	59172279	2	2	183	1	0	0	0	0	0	0	0	1	14842	1625	57	5		5	SLTM	15	59172279	Silent	SNP	T	TCGA-CR-6480-01A-11D-1870-08	10434638	59172279	43359113	105	32083											
HERC1	8925	broad.mit.edu	37	chr15	64026927	64026927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaagcaaaggcctacctgtCctttagataagctttcccat	11	11	7	12	0	0	1	0	0	0	1	2	1	2	1	4	1	3	3	4	1	5	5			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr15:64026927C>A	ENST00000443617.2	-	13	2729	c.2642G>T	c.(2641-2643)gGa>gTa	p.G881V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	881					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCCTACCTGTCCTTTAGATAA	0.403													25	49					7.76418e-22	8.45653e-22	1	0	A	64026927	C	A	64026927	3	1	183	1	0	0	0	0	1	0	0	0	7107	855	30	2	12207	2	HERC1	15	64026927	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	4854648	64026927	38504465	106	32084											
LCTL	197021	broad.mit.edu	37	chr15	66855887	66855887	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtgcaaggtcacgatGggagtgatgttgctgctcag	8	10	16	7	1	2	1	2	1	0	0	2	3	2	2	0	3	3	4	0	3	1	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr15:66855887G>A	ENST00000341509.5	-	4	578	c.447C>T	c.(445-447)ccC>ccT	p.P149P	LCTL_ENST00000537670.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	149					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGTCACGATGGGAGTGATGT	0.527													20	34					0	0	0	0	A	66855887	G	A	66855887	2	1	183	1	0	0	0	0	0	0	0	1	8747	1335	47	4		4	LCTL	15	66855887	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	2828960	66855887	35675505	107	32085											
DNAJA4	55466	broad.mit.edu	37	chr15	78557113	78557113	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgcagacacaagatggtgaAggagacccagtactatgaca	15	5	11	10	1	0	5	0	2	0	3	0	6	0	5	2	2	1	2	2	2	4	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr15:78557113A>G	ENST00000394855.3	+	2	323	c.95A>G	c.(94-96)aAg>aGg	p.K32R	DNAJA4_ENST00000343789.3_Missense_Mutation_p.K3R|DNAJA4_ENST00000394852.3_Missense_Mutation_p.K3R|DNAJA4_ENST00000489435.2_Missense_Mutation_p.K32R	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	3	J.				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						AAGATGGTGAAGGAGACCCAG	0.716													3	13					0	0	0	0	G	78557113	A	G	78557113	3	3	183	1	0	0	0	0	1	0	0	0	4650	72	3	5	101	5	DNAJA4	15	78557113	Missense_Mutation	SNP	A	TCGA-CR-6480-01A-11D-1870-08	11701226	78557113	23974279	108	32086											
CIITA	4261	broad.mit.edu	37	chr16	10995908	10995908	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagctgagccccccacTgtggtgactggcagtctcct	6	9	10	16	0	2	2	1	2	1	0	3	2	2	2	4	2	2	2	4	2	0	0			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr16:10995908T>A	ENST00000324288.8	+	7	628	c.495T>A	c.(493-495)acT>acA	p.T165T	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	165					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGCCCCCCACTGTGGTGACTG	0.647			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								4	127					0	0	0	0	A	10995908	T	A	10995908	2	1	183	1	0	0	0	0	0	0	0	1	3457	1567	55	5		5	CIITA	16	10995908	Silent	SNP	T	TCGA-CR-6480-01A-11D-1870-08		10995908	79358845	109	32087											
PRPF8	10594	broad.mit.edu	37	chr17	1582626	1582626	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgatgcttcagggcattCagcacatagtacttaagcag	11	9	11	10	1	2	0	2	0	0	0	2	1	2	0	1	2	4	5	1	2	3	5			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:1582626C>T	ENST00000572621.1	-	9	1633	c.1368G>A	c.(1366-1368)ctG>ctA	p.L456L	PRPF8_ENST00000304992.6_Silent_p.L456L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	456						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCAGGGCATTCAGCACATAGT	0.542													38	66					0	0	0	0	T	1582626	C	T	1582626	2	4	183	1	0	0	0	0	0	0	0	1	12655	813	29	2		2	PRPF8	17	1582626	Silent	SNP	C	TCGA-CR-6480-01A-11D-1870-08		1582626	79612584	110	32088											
CCDC42	146849	broad.mit.edu	37	chr17	8638891	8638891	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggcgcatgctcaccagCgtcttgtagcgtgcaatcac	7	10	11	13	4	3	0	2	0	1	0	4	0	3	0	1	1	4	4	1	1	2	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:8638891C>A	ENST00000293845.3	-	5	757	c.531G>T	c.(529-531)acG>acT	p.T177T	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	177				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TGCTCACCAGCGTCTTGTAGC	0.627													16	20					1.99824e-07	2.08353e-07	1	0	A	8638891	C	A	8638891	2	1	183	1	0	0	0	0	0	0	0	1	2840	755	27	3		3	CCDC42	17	8638891	Silent	SNP	C	TCGA-CR-6480-01A-11D-1870-08	7056265	8638891	72556319	111	32089											
CORO6	84940	broad.mit.edu	37	chr17	27943185	27943185	+	Silent	SNP	G	G	A																															gggtacagatcgtcctggaaGaggtctgactgcgggggtgg																										TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:27943185G>A	ENST00000345068.5	-	10	1284	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000584969.1_Silent_p.L357L|CORO6_ENST00000456796.3_Silent_p.L123L|CORO6_ENST00000388767.3_Silent_p.L357L|CORO6_ENST00000445145.2_Silent_p.L357L|CORO6_ENST00000580212.1_Silent_p.L317L			Q6QEF8	CORO6_HUMAN	coronin 6	357					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CGTCCTGGAAGAGGTCTGACT	0.667													8	13					0	0	0	0	A	27943185	G	A	27943185	2	1	183	1	0	0	0	0	0	0	0	1	3788	929	33	2		2	CORO6	17	27943185	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	19304294	27943185	53252025	112	32090	244	2									
CORO6	84940	broad.mit.edu	37	chr17	27943190	27943190	+	Missense_Mutation	SNP	C	C	G																															cagatcgtcctggaagaggtCtgactgcgggggtgggtgga																										TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:27943190C>G	ENST00000345068.5	-	10	1279	c.1066G>C	c.(1066-1068)Gac>Cac	p.D356H	RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000584969.1_Missense_Mutation_p.D356H|CORO6_ENST00000456796.3_Missense_Mutation_p.D122H|CORO6_ENST00000388767.3_Missense_Mutation_p.D356H|CORO6_ENST00000445145.2_Missense_Mutation_p.D356H|CORO6_ENST00000580212.1_Missense_Mutation_p.D316H			Q6QEF8	CORO6_HUMAN	coronin 6	356					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TGGAAGAGGTCTGACTGCGGG	0.677													7	14					0	0	0	0	G	27943190	C	G	27943190	3	3	183	1	0	0	0	0	1	0	0	0	3788	913	32	2	360	2	CORO6	17	27943190	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	5	27943190	53252020	113	32091	244	2									
EZH1	2145	broad.mit.edu	37	chr17	40870631	40870631	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacatctctgttagttctcGatacctatttaagaaaagag	13	14	7	7	1	2	3	0	1	2	2	4	4	2	3	1	0	1	2	1	0	6	6			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:40870631G>A	ENST00000428826.2	-	9	893	c.772C>T	c.(772-774)Cga>Tga	p.R258*	EZH1_ENST00000592743.1_Nonsense_Mutation_p.R258*|EZH1_ENST00000415827.2_Nonsense_Mutation_p.R249*|EZH1_ENST00000585893.1_Nonsense_Mutation_p.R218*|EZH1_ENST00000435174.1_Nonsense_Mutation_p.R119*|EZH1_ENST00000590078.1_Nonsense_Mutation_p.R188*			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	258					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GTTAGTTCTCGATACCTATTT	0.507													16	36					0	0	0	0	A	40870631	G	A	40870631	4	1	183	1	0	0	0	0	0	1	0	0	5371	1066	37	1	1523	1	EZH1	17	40870631	Nonsense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	12927441	40870631	40324579	114	32092											
GPRC5C	55890	broad.mit.edu	37	chr17	72436363	72436363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcccggaagaaccacGggccccggggctgggtgatc	6	5	16	14	3	0	2	0	1	0	1	2	3	1	3	5	6	1	1	5	6	2	0			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:72436363G>A	ENST00000392627.1	+	2	1709	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	GPRC5C_ENST00000392629.2_Missense_Mutation_p.G162R|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	150						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GAAGAACCACGGGCCCCGGGG	0.597													4	101					0	0	0	0	A	72436363	G	A	72436363	3	1	183	1	0	0	0	0	1	0	0	0	6776	1116	39	1	597	1	GPRC5C	17	72436363	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	31565732	72436363	8758847	115	32093											
GALR2	8811	broad.mit.edu	37	chr17	74072818	74072818	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggggctgtcgctgctcttctCcgggccctacctgagctact	3	11	12	15	2	2	1	0	1	2	0	4	1	2	1	3	3	4	4	3	3	2	3			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:74072818C>G	ENST00000329003.3	+	2	560	c.470C>G	c.(469-471)tCc>tGc	p.S157C		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	157					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTGCTCTTCTCCGGGCCCTAC	0.692													14	35					0	0	0	0	G	74072818	C	G	74072818	3	3	183	1	0	0	0	0	1	0	0	0	6277	855	30	2	476	2	GALR2	17	74072818	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	1636455	74072818	7122392	116	32094											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625693	74625693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgttctctggcactggctCtgcatagatggttgtcctcc	5	15	10	11	0	2	1	0	0	2	1	5	1	4	1	2	3	1	5	2	3	1	4			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr17:74625693C>T	ENST00000156626.7	-	2	431	c.232G>A	c.(232-234)Gag>Aag	p.E78K	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	78					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GGCACTGGCTCTGCATAGATG	0.567													53	88					0	0	0	0	T	74625693	C	T	74625693	3	4	183	1	0	0	0	0	1	0	0	0	15313	922	32	2	1602	2	ST6GALNAC1	17	74625693	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	552875	74625693	6569517	117	32095											
DLGAP1	9229	broad.mit.edu	37	chr18	3502477	3502477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaatgaaccatacaaaatCtacattgttctaccttcttg	14	15	3	9	0	3	1	0	1	3	0	3	1	3	1	2	0	4	1	2	0	8	8			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr18:3502477C>T	ENST00000581527.1	-	12	3264	c.2738G>A	c.(2737-2739)aGa>aAa	p.R913K	DLGAP1_ENST00000315677.3_Intron|DLGAP1_ENST00000584874.1_Intron|DLGAP1_ENST00000581699.1_Intron|DLGAP1_ENST00000539435.1_Intron|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R611K|DLGAP1_ENST00000400147.2_Intron|DLGAP1_ENST00000400149.3_Intron|DLGAP1_ENST00000400150.3_Intron|DLGAP1_ENST00000400155.1_Intron|DLGAP1_ENST00000534970.1_Intron|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R913K	NM_001242761.1	NP_001229690.1	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	0					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CATACAAAATCTACATTGTTC	0.348													19	27					0	0	0	0	T	3502477	C	T	3502477	3	4	183	1	0	0	0	0	1	0	0	0	4596	928	32	2		2	DLGAP1	18	3502477	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08		3502477	74574771	118	32096											
NFATC1	4772	broad.mit.edu	37	chr18	77208872	77208872	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcccgcacgccttctacCaggtgcaccgcatcacaggg	7	6	11	17	4	2	0	1	0	1	0	2	0	2	0	4	2	3	3	4	2	1	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr18:77208872C>T	ENST00000253506.5	+	4	1846	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	NFATC1_ENST00000397790.2_Nonsense_Mutation_p.Q21*|NFATC1_ENST00000587635.1_Nonsense_Mutation_p.Q493*|NFATC1_ENST00000592223.1_Nonsense_Mutation_p.Q480*|NFATC1_ENST00000329101.4_Nonsense_Mutation_p.Q480*|NFATC1_ENST00000591814.1_Nonsense_Mutation_p.Q493*|NFATC1_ENST00000586434.1_Nonsense_Mutation_p.Q480*|NFATC1_ENST00000545796.1_Nonsense_Mutation_p.Q21*|NFATC1_ENST00000542384.1_Nonsense_Mutation_p.Q493*|NFATC1_ENST00000318065.5_Nonsense_Mutation_p.Q480*|NFATC1_ENST00000427363.2_Nonsense_Mutation_p.Q493*	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	493	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CGCCTTCTACCAGGTGCACCG	0.622													18	13					0	0	0	0	T	77208872	C	T	77208872	4	4	183	1	0	0	0	0	0	1	0	0	10431	595	21	4	1583	4	NFATC1	18	77208872	Nonsense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	73706395	77208872	868376	119	32097											
SLC1A5	6510	broad.mit.edu	37	chr19	47282157	47282157	+	Frame_Shift_Del	DEL	G	G	-																															ccaggaacatgatgcccacaGgggcgtacctgatcagtaac																										TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr19:47282157delG	ENST00000542575.2	-	5	1461	c.833delC	c.(832-834)ctfs	p.P278fs	SLC1A5_ENST00000434726.2_Frame_Shift_Del_p.P76fs|SLC1A5_ENST00000412532.2_Frame_Shift_Del_p.P50fs|SLC1A5_ENST00000594991.1_Frame_Shift_Del_p.P102fs	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	278					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GATGCCCACAGGGGCGTACCT	0.582													15	27	---	---	---	---					-	47282157	G	-	47282157	7	5	183	1	0	1	0	1	0	0	0	0	14523	1000	35	0	808	0	SLC1A5	19	47282157	Frame_Shift_Del	DEL	G	TCGA-CR-6480-01A-11D-1870-08		47282157	11846826	120	32098											
ZNF331	55422	broad.mit.edu	37	chr19	54080933	54080933	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatcacctcactcagcaCgagagaatccacacaggcga	13	5	9	14	2	3	1	3	0	0	1	4	4	4	1	2	2	1	2	2	2	2	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr19:54080933C>T	ENST00000253144.9	+	7	2452	c.1119C>T	c.(1117-1119)caC>caT	p.H373H	ZNF331_ENST00000449416.1_Silent_p.H373H|ZNF331_ENST00000513999.1_Silent_p.H373H|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000512387.1_Silent_p.H373H|ZNF331_ENST00000411977.2_Silent_p.H373H|ZNF331_ENST00000511154.1_Silent_p.H373H|ZNF331_ENST00000511593.2_Silent_p.H373H	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCACTCAGCACGAGAGAATCC	0.498			T	?	follicular thyroid adenoma								7	39					0	0	0	0	T	54080933	C	T	54080933	2	4	183	1	0	0	0	0	0	0	0	1	17944	535	19	1		1	ZNF331	19	54080933	Silent	SNP	C	TCGA-CR-6480-01A-11D-1870-08	6798776	54080933	5048050	121	32099											
ZNF337	26152	broad.mit.edu	37	chr20	25657009	25657009	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagtgcttgttgtatgaGgacttatcgttaaaccttcg	9	16	9	7	2	1	1	1	1	0	0	3	2	1	2	1	1	2	4	1	1	5	7			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr20:25657009G>C	ENST00000376436.1	-	4	1454	c.915C>G	c.(913-915)tcC>tcG	p.S305S	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Silent_p.S305S|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Silent_p.S273S					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTTGTATGAGGACTTATCGT	0.473													79	127					0	0	0	0	C	25657009	G	C	25657009	2	2	183	1	0	0	0	0	0	0	0	1	17948	987	35	4		4	ZNF337	20	25657009	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08		25657009	37368511	122	32100											
C20orf112	140688	broad.mit.edu	37	chr20	31062481	31062481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctggaggccaggtgcGggtcagctgacatccatgtg	7	8	16	10	1	2	1	2	1	0	0	3	2	3	2	2	5	2	2	2	5	0	0			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr20:31062481G>A	ENST00000359676.5	-	2	174	c.32C>T	c.(31-33)cCg>cTg	p.P11L	C20orf112_ENST00000326071.4_Missense_Mutation_p.P11L|C20orf112_ENST00000375678.3_Missense_Mutation_p.P120L|C20orf112_ENST00000375677.1_Missense_Mutation_p.P33L|C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	11										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						GGCCAGGTGCGGGTCAGCTGA	0.597													12	23					0	0	0	0	A	31062481	G	A	31062481	3	1	183	1	0	0	0	0	1	0	0	0	2101	1116	39	1	1306	1	C20orf112	20	31062481	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	5405472	31062481	31963039	123	32101											
ZNF512B	57473	broad.mit.edu	37	chr20	62598782	62598782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttttggccgcccctttttCttcccttctgtcttgtcact	1	19	6	15	1	4	0	1	0	3	0	5	0	5	0	4	1	0	1	4	1	0	7			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr20:62598782C>T	ENST00000450537.1	-	3	276	c.216G>A	c.(214-216)aaG>aaA	p.K72K	ZNF512B_ENST00000369888.1_Silent_p.K72K|ZNF512B_ENST00000217130.3_Silent_p.K72K			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCCCTTTTTCTTCCCTTCTG	0.632													58	85					0	0	0	0	T	62598782	C	T	62598782	2	4	183	1	0	0	0	0	0	0	0	1	18052	912	32	2		2	ZNF512B	20	62598782	Silent	SNP	C	TCGA-CR-6480-01A-11D-1870-08	31536301	62598782	426738	124	32102											
KRTAP27-1	643812	broad.mit.edu	37	chr21	31709410	31709410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtaacacagcaagttggttCaactcctggagaagattcca	14	9	9	9	0	1	2	1	0	0	2	3	3	3	2	2	2	3	4	2	2	4	4			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr21:31709410C>G	ENST00000382835.2	-	1	602	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	193						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CAAGTTGGTTCAACTCCTGGA	0.443													23	24					0	0	0	0	G	31709410	C	G	31709410	3	3	183	1	0	0	0	0	1	0	0	0	8597	835	29	2	50	2	KRTAP27-1	21	31709410	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08		31709410	16420485	125	32103											
LRRC3	81543	broad.mit.edu	37	chr21	45876816	45876816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagggagctggatctgtctCacaacgccatcgaggccatc	9	8	11	13	2	3	0	2	0	2	0	6	3	3	2	2	3	2	1	2	3	1	0			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr21:45876816C>T	ENST00000291592.4	+	2	606	c.289C>T	c.(289-291)Cac>Tac	p.H97Y		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	97						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGATCTGTCTCACAACGCCAT	0.662													23	46					0	0	0	0	T	45876816	C	T	45876816	3	4	183	1	0	0	0	0	1	0	0	0	9048	826	29	2	291	2	LRRC3	21	45876816	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	14167406	45876816	2253079	126	32104											
PPIL2	23759	broad.mit.edu	37	chr22	22049338	22049338	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttccgccagggcgtgggcaAgtacatcaacccagcagcca	10	5	11	15	2	1	0	1	0	0	0	2	0	2	0	4	2	4	3	4	2	3	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr22:22049338A>T	ENST00000406385.1	+	19	1505	c.1445A>T	c.(1444-1446)aAg>aTg	p.K482M	PPIL2_ENST00000456792.2_Intron|PPIL2_ENST00000492445.2_Missense_Mutation_p.K482M|PPIL2_ENST00000335025.7_Missense_Mutation_p.K482M|PPIL2_ENST00000412327.1_Missense_Mutation_p.K482M|PPIL2_ENST00000398831.3_Missense_Mutation_p.K482M			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	482					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GGCGTGGGCAAGTACATCAAC	0.647													5	25					0	0	0	0	T	22049338	A	T	22049338	3	4	183	1	0	0	0	0	1	0	0	0	12403	72	3	5	1519	5	PPIL2	22	22049338	Missense_Mutation	SNP	A	TCGA-CR-6480-01A-11D-1870-08		22049338	29255228	127	32105											
YPEL1	29799	broad.mit.edu	37	chr22	22057704	22057704	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttctcgcagtagatgtcGgcaaccgcatgcagcccggt	8	8	12	13	4	1	1	0	0	1	1	3	1	1	1	2	2	3	6	2	2	2	2			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr22:22057704G>A	ENST00000339468.3	-	4	608	c.225C>T	c.(223-225)gcC>gcT	p.A75A		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	75						nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					AGTAGATGTCGGCAACCGCAT	0.642													32	70					0	0	0	0	A	22057704	G	A	22057704	2	1	183	1	0	0	0	0	0	0	0	1	17585	1103	39	1		1	YPEL1	22	22057704	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	8366	22057704	29246862	128	32106											
CELSR1	9620	broad.mit.edu	37	chr22	46776788	46776788	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctccaggggtctcgggagcgGagccccctcgctgtacacca	6	6	13	16	3	1	0	0	0	1	0	4	2	2	2	4	4	3	2	4	4	1	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr22:46776788G>C	ENST00000262738.3	-	22	7152	c.7153C>G	c.(7153-7155)Ccg>Gcg	p.P2385A		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2385					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTCGGGAGCGGAGCCCCCTCG	0.627													13	27					0	0	0	0	C	46776788	G	C	46776788	3	2	183	1	0	0	0	0	1	0	0	0	3250	1174	41	2	1947	2	CELSR1	22	46776788	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	24719084	46776788	4527778	129	32107											
CRELD2	79174	broad.mit.edu	37	chr22	50319135	50319135	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aactgctacaatactccaggGagctacgtctgtgtgtgtcc	9	11	10	11	1	1	0	0	0	1	0	3	1	3	1	2	1	6	2	2	1	5	3	rs151259822		TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr22:50319135G>A	ENST00000404488.3	+	10	1221	c.1086G>A	c.(1084-1086)ggG>ggA	p.G362G	CRELD2_ENST00000403427.3_Silent_p.G285G|CRELD2_ENST00000407217.3_Silent_p.G281G|CRELD2_ENST00000328268.4_Silent_p.G313G	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	313						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		ATACTCCAGGGAGCTACGTCT	0.507													18	52					0	0	0	0	A	50319135	G	A	50319135	2	1	183	1	0	0	0	0	0	0	0	1	3897	1161	41	2		2	CRELD2	22	50319135	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08	3542347	50319135	985431	130	32108											
CRELD2	79174	broad.mit.edu	37	chr22	50319169	50319169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtcctgacggcttcgaaGaaacggaagatgcctgtgtg	9	10	14	8	3	0	3	0	1	0	2	2	5	1	4	2	2	2	1	2	2	3	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chr22:50319169G>A	ENST00000404488.3	+	10	1255	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	CRELD2_ENST00000403427.3_Missense_Mutation_p.E297K|CRELD2_ENST00000407217.3_Missense_Mutation_p.E293K|CRELD2_ENST00000328268.4_Missense_Mutation_p.E325K	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	325						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCTTCGAAGAAACGGAAGA	0.587													19	43					0	0	0	0	A	50319169	G	A	50319169	3	1	183	1	0	0	0	0	1	0	0	0	3897	943	33	2	1158	2	CRELD2	22	50319169	Missense_Mutation	SNP	G	TCGA-CR-6480-01A-11D-1870-08	34	50319169	985397	131	32109											
PGK1	5230	broad.mit.edu	37	chrX	77380864	77380864	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgccaaatggaacacGgaggataaagtcagccatgt	13	8	12	8	1	1	0	1	0	0	0	1	3	1	3	2	3	4	1	2	3	4	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chrX:77380864G>T	ENST00000373316.4	+	10	1322	c.1155G>T	c.(1153-1155)acG>acT	p.T385T	PGK1_ENST00000442431.1_Silent_p.T249T|PGK1_ENST00000537456.1_Silent_p.T357T|PGK1_ENST00000476531.1_3'UTR	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	385					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						AATGGAACACGGAGGATAAAG	0.488													44	20					4.44712e-29	4.87473e-29	1	0	T	77380864	G	T	77380864	2	4	183	1	0	0	0	0	0	0	0	1	11862	1103	39	3		3	PGK1	23	77380864	Silent	SNP	G	TCGA-CR-6480-01A-11D-1870-08		77380864	77889696	132	32110											
CHM	1121	broad.mit.edu	37	chrX	85211360	85211360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttgagtctttaaatattCataaaatgtgatctcttcat	12	20	4	5	0	4	2	2	2	2	0	5	2	4	2	0	0	0	0	0	0	5	8			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chrX:85211360C>T	ENST00000357749.2	-	8	993	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.E174K	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	322					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TTTAAATATTCATAAAATGTG	0.333													11	3					0	0	0	0	T	85211360	C	T	85211360	3	4	183	1	0	0	0	0	1	0	0	0	3379	835	29	2	1029	2	CHM	23	85211360	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	7830496	85211360	70059200	133	32111											
MPP1	4354	broad.mit.edu	37	chrX	154033630	154033630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcccccactctcgccctCgctcgccttgagggtcatct	3	10	9	19	3	3	1	1	1	2	0	6	1	3	1	4	1	1	2	4	1	0	1			TCGA-CR-6480-01A-11D-1870-08	TCGA-CR-6480-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ee5501e-5463-4481-b798-3d23bfb4f113	9c2c99b3-9669-4bf2-81cc-d82c9611ea2f	g.chrX:154033630C>T	ENST00000369534.3	-	1	166	c.19G>A	c.(19-21)Gag>Aag	p.E7K	MPP1_ENST00000413259.3_5'UTR|MPP1_ENST00000393531.1_Missense_Mutation_p.E7K	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	7					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCTCGCCCTCGCTCGCCTTG	0.662													5	2					0	0	0	0	T	154033630	C	T	154033630	3	4	183	1	0	0	0	0	1	0	0	0	9803	893	31	1	1445	1	MPP1	23	154033630	Missense_Mutation	SNP	C	TCGA-CR-6480-01A-11D-1870-08	68822270	154033630	1236930	134	32112											
ATAD3C	219293	broad.mit.edu	37	chr1	1390860	1390860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtcagccggcggctcctCagtcgaccccaggacgtgct	6	6	13	16	4	2	0	2	0	0	0	4	2	3	1	4	4	2	2	4	4	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:1390860C>T	ENST00000378785.2	+	5	1394	c.399C>T	c.(397-399)ctC>ctT	p.L133L		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	133							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCGGCTCCTCAGTCGACCCC	0.667													8	21					0	0	0	0	T	1390860	C	T	1390860	2	4	184	1	0	0	0	0	0	0	0	1	1079	813	29	2		2	ATAD3C	1	1390860	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08		1390860	247859761	1	32113											
SPSB1	80176	broad.mit.edu	37	chr1	9427562	9427562	+	Silent	SNP	G	G	C																															tcggtgcgcctggccctgggGagggagcgcctgggggagat																										TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:9427562G>C	ENST00000328089.6	+	3	1091	c.750G>C	c.(748-750)ggG>ggC	p.G250G	SPSB1_ENST00000357898.3_Silent_p.G250G|SPSB1_ENST00000377399.2_Silent_p.G250G	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	250	SOCS box.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCCCTGGGGAGGGAGCGCC	0.672													13	46					0	0	0	0	C	9427562	G	C	9427562	2	2	184	1	0	0	0	0	0	0	0	1	15202	1161	41	2		2	SPSB1	1	9427562	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	8036702	9427562	239823059	2	32114	245	2									
SPSB1	80176	broad.mit.edu	37	chr1	9427566	9427566	+	Missense_Mutation	SNP	G	G	A																															tgcgcctggccctggggaggGagcgcctgggggagatccac																										TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:9427566G>A	ENST00000328089.6	+	3	1095	c.754G>A	c.(754-756)Gag>Aag	p.E252K	SPSB1_ENST00000357898.3_Missense_Mutation_p.E252K|SPSB1_ENST00000377399.2_Missense_Mutation_p.E252K	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	252	SOCS box.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGGGAGGGAGCGCCTGGG	0.672													13	43					0	0	0	0	A	9427566	G	A	9427566	3	1	184	1	0	0	0	0	1	0	0	0	15202	1175	41	2	760	2	SPSB1	1	9427566	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4	9427566	239823055	3	32115	245	2									
CASZ1	54897	broad.mit.edu	37	chr1	10702951	10702951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgttacccacgggggtgctgGagcagctccggtccatggtg	5	8	16	12	3	0	0	0	0	0	0	2	1	2	1	3	5	4	4	3	5	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:10702951G>A	ENST00000377022.3	-	20	4444	c.4127C>T	c.(4126-4128)tCc>tTc	p.S1376F	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGGGTGCTGGAGCAGCTCCG	0.667													3	22					0	0	0	0	A	10702951	G	A	10702951	3	1	184	1	0	0	0	0	1	0	0	0	2710	1174	41	2	1160	2	CASZ1	1	10702951	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1275385	10702951	238547670	4	32116											
CASZ1	54897	broad.mit.edu	37	chr1	10703259	10703259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagttcttccccagcatcctCcgcatgtgcttccgcgcgtg	5	11	9	16	4	1	0	0	0	1	0	5	0	5	0	5	0	2	4	5	0	1	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:10703259C>T	ENST00000377022.3	-	19	4295	c.3978G>A	c.(3976-3978)cgG>cgA	p.R1326R	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCAGCATCCTCCGCATGTGCT	0.652													7	49					0	0	0	0	T	10703259	C	T	10703259	2	4	184	1	0	0	0	0	0	0	0	1	2710	842	30	2		2	CASZ1	1	10703259	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	308	10703259	238547362	5	32117											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907868	12907868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttcacacctgcgtttcctCggttcacttttggctctgca	4	16	8	13	2	3	0	2	0	1	0	5	0	4	0	2	2	2	5	2	2	0	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:12907868C>T	ENST00000317869.6	-	2	500	c.275G>A	c.(274-276)cGa>cAa	p.R92Q		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGCGTTTCCTCGGTTCACTTT	0.483													9	150					0	0	0	0	T	12907868	C	T	12907868	3	4	184	1	0	0	0	0	1	0	0	0	7313	884	31	1	608	1	HNRNPCL1	1	12907868	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2204609	12907868	236342753	6	32118											
CROCC	9696	broad.mit.edu	37	chr1	17292539	17292539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgaatcgccagctggccGagatggaggctgagagggac	9	5	16	11	2	0	3	0	2	0	2	1	7	0	5	3	4	1	2	3	4	1	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:17292539G>A	ENST00000375541.5	+	29	4690	c.4621G>A	c.(4621-4623)Gag>Aag	p.E1541K		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1541					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCAGCTGGCCGAGATGGAGGC	0.632													6	34					0	0	0	0	A	17292539	G	A	17292539	3	1	184	1	0	0	0	0	1	0	0	0	3923	1059	37	1	4735	1	CROCC	1	17292539	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4384671	17292539	231958082	7	32119											
RUNX3	864	broad.mit.edu	37	chr1	25254140	25254140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgacggccgaggcattgcGcagctcagcggagtagttct	8	8	14	11	4	2	1	1	1	1	0	2	3	2	2	1	3	3	5	1	3	1	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:25254140G>A	ENST00000399916.1	-	3	844	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000308873.6_Missense_Mutation_p.R122C|RUNX3_ENST00000338888.3_Missense_Mutation_p.R136C|RUNX3_ENST00000540420.1_Missense_Mutation_p.R29C	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	122	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GAGGCATTGCGCAGCTCAGCG	0.632													14	104					0	0	0	0	A	25254140	G	A	25254140	3	1	184	1	0	0	0	0	1	0	0	0	13834	1087	38	1	899	1	RUNX3	1	25254140	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	7961601	25254140	223996481	8	32120											
SDC3	9672	broad.mit.edu	37	chr1	31350069	31350069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtggttgtgaggggcatGaggatcccaggtaagcaatg	9	9	18	5	0	0	2	0	2	0	0	1	3	1	3	1	6	1	4	1	6	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:31350069G>A	ENST00000336798.7	-	1	1518	c.26C>T	c.(25-27)tCa>tTa	p.S9L	SDC3_ENST00000339394.6_Intron|SDC3_ENST00000471567.1_Intron			O75056	SDC3_HUMAN	syndecan 3	0						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGGGGCATGAGGATCCCAG	0.562													5	16					0	0	0	0	A	31350069	G	A	31350069	3	1	184	1	0	0	0	0	1	0	0	0	14040	1305	45	2		2	SDC3	1	31350069	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	6095929	31350069	217900552	9	32121											
BAI2	576	broad.mit.edu	37	chr1	32210323	32210323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactttcggttcctcttccGgctcctcacctggaacacgg	5	12	8	16	3	3	0	2	0	1	0	7	1	6	1	4	4	1	2	4	4	1	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:32210323G>A	ENST00000373658.3	-	5	1189	c.848C>T	c.(847-849)cCg>cTg	p.P283L	BAI2_ENST00000257070.4_Missense_Mutation_p.P283L|BAI2_ENST00000527361.1_Missense_Mutation_p.P283L|BAI2_ENST00000398538.1_Missense_Mutation_p.P271L|BAI2_ENST00000440175.2_5'UTR|BAI2_ENST00000398556.3_Missense_Mutation_p.P286L|BAI2_ENST00000398542.1_Missense_Mutation_p.P271L|BAI2_ENST00000373655.2_Missense_Mutation_p.P283L|BAI2_ENST00000398547.1_Missense_Mutation_p.P271L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	283					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TTCCTCTTCCGGCTCCTCACC	0.612													6	39					0	0	0	0	A	32210323	G	A	32210323	3	1	184	1	0	0	0	0	1	0	0	0	1303	1116	39	1	4025	1	BAI2	1	32210323	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	860254	32210323	217040298	10	32122											
ZMYM1	79830	broad.mit.edu	37	chr1	35578687	35578687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtcagcatgcaattggttCcagtacagaagtacaaaaag	16	8	9	8	0	1	1	1	0	0	1	2	1	2	1	1	1	4	5	1	1	6	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:35578687C>T	ENST00000373330.1	+	11	1430	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.S419F			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	419	Ser-rich.					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCAATTGGTTCCAGTACAGAA	0.368													6	27					0	0	0	0	T	35578687	C	T	35578687	3	4	184	1	0	0	0	0	1	0	0	0	17794	855	30	2	1290	2	ZMYM1	1	35578687	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3368364	35578687	213671934	11	32123											
MACF1	23499	broad.mit.edu	37	chr1	39750825	39750825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgatgtggaagaagagtgggGaaagctcatcatagagatgc	14	8	15	4	0	2	4	2	1	0	3	2	7	2	6	0	3	2	1	0	3	4	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:39750825G>A	ENST00000564288.1	+	12	1979	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	MACF1_ENST00000372915.3_Missense_Mutation_p.G406E|MACF1_ENST00000539005.1_Missense_Mutation_p.G406E|MACF1_ENST00000317713.7_Missense_Mutation_p.G406E|MACF1_ENST00000567887.1_Missense_Mutation_p.G438E|MACF1_ENST00000545844.1_Missense_Mutation_p.G406E|MACF1_ENST00000361689.2_Missense_Mutation_p.G406E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	406					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGAGTGGGGAAAGCTCATC	0.458													14	68					0	0	0	0	A	39750825	G	A	39750825	3	1	184	1	0	0	0	0	1	0	0	0	9209	1174	41	2	1259	2	MACF1	1	39750825	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4172138	39750825	209499796	12	32124											
KIAA0754	643314	broad.mit.edu	37	chr1	39876389	39876389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagagaggatagaagcttCtctcagtgaggtttcagaag	12	10	13	6	0	3	4	2	1	1	3	4	6	3	5	0	2	2	3	0	2	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:39876389C>T	ENST00000530275.1	+	1	239	c.44C>T	c.(43-45)tCt>tTt	p.S15F	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	15										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATAGAAGCTTCTCTCAGTGAG	0.468													6	115					0	0	0	0	T	39876389	C	T	39876389	3	4	184	1	0	0	0	0	1	0	0	0	8243	913	32	2	454	2	KIAA0754	1	39876389	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	125564	39876389	209374232	13	32125											
SLFNL1	200172	broad.mit.edu	37	chr1	41481844	41481844	+	Silent	SNP	C	C	T																															tgctgctggagctgctccttCtccatcatcagcgccttcat																								rs142166637		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:41481844C>T	ENST00000359345.1	-	4	3734	c.1158G>A	c.(1156-1158)gaG>gaA	p.E386E	SLFNL1_ENST00000302946.8_Silent_p.E386E|SLFNL1_ENST00000372613.2_Silent_p.E338E|SLFNL1_ENST00000397197.2_Silent_p.E338E|SLFNL1_ENST00000439569.2_Silent_p.E386E|SLFNL1_ENST00000372611.1_Silent_p.E327E	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	386							ATP binding	p.E386E(1)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GCTGCTCCTTCTCCATCATCA	0.637													14	94					0	0	0	0	T	41481844	C	T	41481844	2	4	184	1	0	0	0	0	0	0	0	1	14826	912	32	2		2	SLFNL1	1	41481844	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1605455	41481844	207768777	14	32126	246	2									
SLFNL1	200172	broad.mit.edu	37	chr1	41481853	41481853	+	Silent	SNP	C	C	T																															agctgctccttctccatcatCagcgccttcatcttctcttc																										TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:41481853C>T	ENST00000359345.1	-	4	3725	c.1149G>A	c.(1147-1149)ctG>ctA	p.L383L	SLFNL1_ENST00000302946.8_Silent_p.L383L|SLFNL1_ENST00000372613.2_Silent_p.L335L|SLFNL1_ENST00000397197.2_Silent_p.L335L|SLFNL1_ENST00000439569.2_Silent_p.L383L|SLFNL1_ENST00000372611.1_Silent_p.L324L	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	383							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TCTCCATCATCAGCGCCTTCA	0.642													15	90					0	0	0	0	T	41481853	C	T	41481853	2	4	184	1	0	0	0	0	0	0	0	1	14826	813	29	2		2	SLFNL1	1	41481853	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	9	41481853	207768768	15	32127	246	2									
KIF2C	11004	broad.mit.edu	37	chr1	45221866	45221866	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaccaagcattctgctttGactttgcatttgatgaaaca	13	13	7	8	0	1	4	0	3	1	1	1	4	1	4	1	0	5	3	1	0	3	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:45221866G>C	ENST00000372217.1	+	9	1123	c.772G>C	c.(772-774)Gac>Cac	p.D258H	KIF2C_ENST00000372222.3_Missense_Mutation_p.D199H|KIF2C_ENST00000372224.4_Missense_Mutation_p.D312H|KIF2C_ENST00000372218.4_Missense_Mutation_p.D271H|KIF2C_ENST00000493027.1_3'UTR			Q99661	KIF2C_HUMAN	kinesin family member 2C	312	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					ATTCTGCTTTGACTTTGCATT	0.423													28	143					0	0	0	0	C	45221866	G	C	45221866	3	2	184	1	0	0	0	0	1	0	0	0	8350	1290	45	2	972	2	KIF2C	1	45221866	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3740013	45221866	204028755	16	32128											
PLK3	1263	broad.mit.edu	37	chr1	45268512	45268512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgaggcggatgtatggtCactgggctgtgtcatgtgag	6	11	16	8	1	2	2	2	2	0	0	2	3	2	3	1	4	0	2	1	4	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:45268512C>T	ENST00000372201.4	+	6	973	c.734C>T	c.(733-735)tCa>tTa	p.S245L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	245	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GATGTATGGTCACTGGGCTGT	0.597													11	59					0	0	0	0	T	45268512	C	T	45268512	3	4	184	1	0	0	0	0	1	0	0	0	12169	838	29	2	756	2	PLK3	1	45268512	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	46646	45268512	203982109	17	32129											
CYP4A11	1579	broad.mit.edu	37	chr1	47398445	47398445	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtctcaccttgatcctcctGagaagggcaggaaagcgtgg	9	8	13	11	2	1	2	1	2	1	1	4	4	3	3	3	3	1	1	3	3	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:47398445G>C	ENST00000310638.4	-	11	1383	c.1352C>G	c.(1351-1353)tCa>tGa	p.S451*	CYP4A11_ENST00000371904.4_Nonsense_Mutation_p.S452*|CYP4A11_ENST00000371905.1_Nonsense_Mutation_p.S451*|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	451					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGATCCTCCTGAGAAGGGCAG	0.507													61	311					0	0	0	0	C	47398445	G	C	47398445	4	2	184	1	0	0	0	0	0	1	0	0	4215	1294	45	2	215	2	CYP4A11	1	47398445	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2129933	47398445	201852176	18	32130											
CMPK1	51727	broad.mit.edu	37	chr1	47840885	47840885	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagaattcagacctaccttCagtcaacaaagccaattatt	15	10	5	11	0	3	2	3	0	0	2	3	2	3	2	3	0	3	1	3	0	6	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:47840885C>T	ENST00000371873.5	+	5	714	c.565C>T	c.(565-567)Cag>Tag	p.Q189*	CMPK1_ENST00000450808.2_Nonsense_Mutation_p.Q140*	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN	cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	157					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	GACCTACCTTCAGTCAACAAA	0.368													24	140					0	0	0	0	T	47840885	C	T	47840885	4	4	184	1	0	0	0	0	0	1	0	0	3610	827	29	2	583	2	CMPK1	1	47840885	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	442440	47840885	201409736	19	32131											
FAM159A	348378	broad.mit.edu	37	chr1	53108622	53108622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctctgctacctgttcatCagctctaagccccacacaaa	10	10	6	15	0	4	0	2	0	2	0	4	0	4	0	3	0	5	4	3	0	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:53108622C>T	ENST00000517870.1	+	2	420	c.270C>T	c.(268-270)atC>atT	p.I90I	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	90						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						ACCTGTTCATCAGCTCTAAGC	0.527													20	125					0	0	0	0	T	53108622	C	T	53108622	2	4	184	1	0	0	0	0	0	0	0	1	5509	816	29	2		2	FAM159A	1	53108622	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	5267737	53108622	196141999	20	32132											
C1orf173	127254	broad.mit.edu	37	chr1	75038328	75038328	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcttccttgcaaaggaaGgcttcctttgcaaggcttcc	9	12	8	12	0	1	0	0	0	1	0	4	1	4	1	3	3	2	4	3	3	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:75038328G>T	ENST00000326665.5	-	14	3284	c.3066C>A	c.(3064-3066)gcC>gcA	p.A1022A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1022	Glu-rich.									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						TGCAAAGGAAGGCTTCCTTTG	0.502													17	95					0.000175454	0.000181184	1	0	T	75038328	G	T	75038328	2	4	184	1	0	0	0	0	0	0	0	1	2033	987	35	4		4	C1orf173	1	75038328	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	21929706	75038328	174212293	21	32133											
ASB17	127247	broad.mit.edu	37	chr1	76397847	76397847	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctgtaaatccttggttCgtaacagtgatatccccact	10	14	7	10	1	1	2	0	2	1	0	4	2	3	2	3	1	1	3	3	1	4	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:76397847C>A	ENST00000284142.6	-	1	269	c.130G>T	c.(130-132)Gaa>Taa	p.E44*		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	44					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ATCCTTGGTTCGTAACAGTGA	0.398													34	132					1.414e-09	1.49744e-09	1	0	A	76397847	C	A	76397847	4	1	184	1	0	0	0	0	0	1	0	0	1025	893	31	3	769	3	ASB17	1	76397847	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1359519	76397847	172852774	22	32134											
PRKACB	5567	broad.mit.edu	37	chr1	84650847	84650847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaatgttttcacatctaaGaagaattggaaggttcaggt	14	13	10	4	0	3	3	2	1	1	2	3	4	3	4	0	3	0	2	0	3	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:84650847G>A	ENST00000370689.2	+	5	665	c.401G>A	c.(400-402)aGa>aAa	p.R134K	PRKACB_ENST00000394839.2_Missense_Mutation_p.R104K|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370685.3_Missense_Mutation_p.R181K|PRKACB_ENST00000394838.2_Missense_Mutation_p.R141K|PRKACB_ENST00000370688.3_Missense_Mutation_p.R134K|PRKACB_ENST00000370680.1_Missense_Mutation_p.R140K|PRKACB_ENST00000370682.3_Missense_Mutation_p.R138K	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	134	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TCACATCTAAGAAGAATTGGA	0.308													23	152					0	0	0	0	A	84650847	G	A	84650847	3	1	184	1	0	0	0	0	1	0	0	0	12578	942	33	2	610	2	PRKACB	1	84650847	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	8253000	84650847	164599774	23	32135											
RPF1	80135	broad.mit.edu	37	chr1	84948646	84948646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgacaaccagcgagtgtatGatgaaaccacagtagaccct	14	8	9	10	1	0	4	0	3	0	1	0	5	0	4	3	0	3	2	3	0	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:84948646G>A	ENST00000370654.5	+	3	349	c.334G>A	c.(334-336)Gat>Aat	p.D112N	RPF1_ENST00000370656.1_Missense_Mutation_p.D112N	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	112					rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						GCGAGTGTATGATGAAACCAC	0.318													6	32					0	0	0	0	A	84948646	G	A	84948646	3	1	184	1	0	0	0	0	1	0	0	0	13631	1290	45	2	344	2	RPF1	1	84948646	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	297799	84948646	164301975	24	32136											
COL24A1	255631	broad.mit.edu	37	chr1	86313410	86313410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaatttttccaggaggacCtctgcttccaacttctcctg	7	13	6	15	0	2	0	0	0	2	0	5	2	4	2	5	2	2	1	5	2	2	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:86313410C>G	ENST00000370571.2	-	39	3766	c.3400G>C	c.(3400-3402)Ggt>Cgt	p.G1134R	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1134R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1134	Collagen-like 11.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCAGGAGGACCTCTGCTTCCA	0.418													15	121					0	0	0	0	G	86313410	C	G	86313410	3	3	184	1	0	0	0	0	1	0	0	0	3713	681	24	4	1832	4	COL24A1	1	86313410	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1364764	86313410	162937211	25	32137											
CLCA1	1179	broad.mit.edu	37	chr1	86964330	86964330	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagcaagtgtgtttcagcaGaacatcctcgggaggctcat	11	9	11	10	1	2	1	2	0	0	1	4	2	3	2	1	2	3	4	1	2	3	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:86964330G>C	ENST00000234701.3	+	14	2540	c.2189G>C	c.(2188-2190)aGa>aCa	p.R730T	CLCA1_ENST00000394711.1_Missense_Mutation_p.R730T			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	730					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TGTTTCAGCAGAACATCCTCG	0.423													13	94					0	0	0	0	C	86964330	G	C	86964330	3	2	184	1	0	0	0	0	1	0	0	0	3487	942	33	2	2239	2	CLCA1	1	86964330	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	650920	86964330	162286291	26	32138											
ABCA4	24	broad.mit.edu	37	chr1	94502326	94502326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggtcctgaatcagaatcctCcgtgaccttcagaaaaatct	13	10	7	11	1	3	4	2	2	1	2	6	4	6	4	4	1	0	0	4	1	4	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:94502326C>T	ENST00000370225.3	-	26	3918	c.3832G>A	c.(3832-3834)Gag>Aag	p.E1278K		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1278					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAGAATCCTCCGTGACCTTC	0.438													31	125					0	0	0	0	T	94502326	C	T	94502326	3	4	184	1	0	0	0	0	1	0	0	0	34	864	30	2	3089	2	ABCA4	1	94502326	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	7537996	94502326	154748295	27	32139											
ABCA4	24	broad.mit.edu	37	chr1	94577116	94577116	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcattcctgctgagggcatCgccttgttggggaaatggcc	7	10	14	10	1	0	1	0	1	0	0	2	2	1	2	3	4	2	4	3	4	1	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:94577116C>G	ENST00000370225.3	-	3	266	c.180G>C	c.(178-180)gcG>gcC	p.A60A	ABCA4_ENST00000535735.1_Silent_p.A60A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	60			A -> E (in STGD1).|A -> T (in STGD1).|A -> V (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A60A(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGAGGGCATCGCCTTGTTGG	0.512													10	52					0	0	0	0	G	94577116	C	G	94577116	2	3	184	1	0	0	0	0	0	0	0	1	34	871	31	3		3	ABCA4	1	94577116	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	74790	94577116	154673505	28	32140											
FAM102B	284611	broad.mit.edu	37	chr1	109154857	109154857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaggaaataccactcgcCgctgtttactggaaggctat	11	10	10	10	2	1	0	1	0	0	0	2	3	1	2	2	3	2	3	2	3	5	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:109154857C>T	ENST00000370035.3	+	4	686	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	FAM102B_ENST00000405454.1_Missense_Mutation_p.R116C	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	116										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		TACCACTCGCCGCTGTTTACT	0.363													24	72					0	0	0	0	T	109154857	C	T	109154857	3	4	184	1	0	0	0	0	1	0	0	0	5424	652	23	1	360	1	FAM102B	1	109154857	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	14577741	109154857	140095764	29	32141											
CSF1	1435	broad.mit.edu	37	chr1	110466425	110466425	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccatccatctgccctgctCagagaccccccggagccagg	8	5	10	18	1	2	1	1	0	1	1	3	4	3	2	7	2	3	1	7	2	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:110466425C>G	ENST00000329608.6	+	6	1573	c.1182C>G	c.(1180-1182)ctC>ctG	p.L394L	CSF1_ENST00000420111.2_Intron|CSF1_ENST00000344188.5_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Silent_p.L394L	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	394					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGCCCTGCTCAGAGACCCCC	0.642													9	39					0	0	0	0	G	110466425	C	G	110466425	2	3	184	1	0	0	0	0	0	0	0	1	3963	813	29	2		2	CSF1	1	110466425	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1311568	110466425	138784196	30	32142											
POLR3GL	84265	broad.mit.edu	37	chr1	145459695	145459695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagtaggggagctgcctCatggctcctcgtagctcttg	7	11	13	10	1	2	1	1	1	1	0	4	2	3	2	2	3	3	5	2	3	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:145459695C>T	ENST00000369314.1	-	3	319	c.213G>A	c.(211-213)atG>atA	p.M71I	POLR3GL_ENST00000369313.3_Missense_Mutation_p.M71I	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	71										endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCTGCCTCATGGCTCCTC	0.577													8	43					0	0	0	0	T	145459695	C	T	145459695	3	4	184	1	0	0	0	0	1	0	0	0	12307	826	29	2	467	2	POLR3GL	1	145459695	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	34993270	145459695	103790926	31	32143											
GOLPH3L	55204	broad.mit.edu	37	chr1	150634351	150634351	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagttgctttgatgtgtttCagagtttcatccagtaaaac	10	16	8	7	0	3	2	3	1	0	1	4	2	4	2	1	0	2	5	1	0	2	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:150634351C>T	ENST00000271732.3	-	4	413	c.369G>A	c.(367-369)ctG>ctA	p.L123L	GOLPH3L_ENST00000540514.1_Silent_p.L79L	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	123						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGATGTGTTTCAGAGTTTCAT	0.388													17	95					0	0	0	0	T	150634351	C	T	150634351	2	4	184	1	0	0	0	0	0	0	0	1	6617	813	29	2		2	GOLPH3L	1	150634351	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	5174656	150634351	98616270	32	32144											
S100A4	6275	broad.mit.edu	37	chr1	153516400	153516400	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcttcatctgtccttttCtggagggagaagaggctaca	9	11	12	9	0	3	2	1	0	2	2	4	4	4	3	1	3	2	3	1	3	2	4	rs15262		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:153516400C>T	ENST00000368716.4	-	3	289		c.e3-1		S100A4_ENST00000368715.1_Splice_Site|S100A4_ENST00000368714.1_Splice_Site|S100A4_ENST00000354332.4_Splice_Site|S100A4_ENST00000481009.1_Splice_Site	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4						epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGTCCTTTTCTGGAGGGAGA	0.527													31	114					0	0	0	0	T	153516400	C	T	153516400	5	4	184	1	0	0	0	0	0	0	1	0	13865	927	32	2	168	2	S100A4	1	153516400	Splice_Site	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2882049	153516400	95734221	33	32145											
DCST1	149095	broad.mit.edu	37	chr1	155011959	155011959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacccaagatgctgggcaagGaaggcaggctctttgtcctg	9	9	13	10	0	1	1	0	0	1	1	2	2	2	2	2	4	2	4	2	4	4	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:155011959G>A	ENST00000295542.1	+	5	439	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	DCST1_ENST00000368419.2_Missense_Mutation_p.E115K|DCST1_ENST00000423025.2_Missense_Mutation_p.E90K|DCST1_ENST00000392480.1_Missense_Mutation_p.E115K	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	115						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCTGGGCAAGGAAGGCAGGCT	0.612													5	97					0	0	0	0	A	155011959	G	A	155011959	3	1	184	1	0	0	0	0	1	0	0	0	4334	1175	41	2	357	2	DCST1	1	155011959	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1495559	155011959	94238662	34	32146											
PAQR6	79957	broad.mit.edu	37	chr1	156213794	156213794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccctctctcctgtgccctCtctcctcagcccctgttggt	1	14	7	19	0	3	0	1	0	2	0	7	0	5	0	6	1	3	1	6	1	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:156213794C>T	ENST00000335852.1	-	7	1529	c.914G>A	c.(913-915)aGa>aAa	p.R305K	PAQR6_ENST00000360733.2_Missense_Mutation_p.R305K|PAQR6_ENST00000292291.5_3'UTR|PAQR6_ENST00000540423.1_3'UTR|PAQR6_ENST00000368270.1_3'UTR|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Missense_Mutation_p.R305K	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	0						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					CCTGTGCCCTCTCTCCTCAGC	0.627													23	166					0	0	0	0	T	156213794	C	T	156213794	3	4	184	1	0	0	0	0	1	0	0	0	11510	913	32	2	145	2	PAQR6	1	156213794	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1201835	156213794	93036827	35	32147											
FCRL3	115352	broad.mit.edu	37	chr1	157648586	157648586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccctgcctctgctgctagCctcccctgcagagtcgtctg	3	10	11	17	1	2	1	0	0	2	1	4	1	3	1	5	1	5	3	5	1	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:157648586C>T	ENST00000368184.3	-	15	2410	c.2119G>A	c.(2119-2121)Gct>Act	p.A707T	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.A707T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	707						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)					CTGCTGCTAGCCTCCCCTGCA	0.468													12	56					0	0	0	0	T	157648586	C	T	157648586	3	4	184	1	0	0	0	0	1	0	0	0	5841	739	26	4	89	4	FCRL3	1	157648586	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1434792	157648586	91602035	36	32148											
FCRL3	115352	broad.mit.edu	37	chr1	157665912	157665912	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtatctccctgcatcactCtccttcacggtgagaacatg	9	12	7	13	1	4	1	2	1	2	1	6	2	4	1	2	1	2	2	2	1	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:157665912C>G	ENST00000368184.3	-	7	1341	c.1050G>C	c.(1048-1050)gaG>gaC	p.E350D	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.E350D	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	350	Ig-like C2-type 4.					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)					CTGCATCACTCTCCTTCACGG	0.512													9	64					0	0	0	0	G	157665912	C	G	157665912	3	3	184	1	0	0	0	0	1	0	0	0	5841	912	32	2	1190	2	FCRL3	1	157665912	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	17326	157665912	91584709	37	32149											
SDHC	6391	broad.mit.edu	37	chr1	161326611	161326611	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctctcatgtatcatacctGgaatgggatccgacacttgg	9	11	9	12	1	2	0	2	0	1	0	4	3	3	2	3	3	1	1	3	3	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:161326611G>A	ENST00000367975.2	+	5	535	c.386G>A	c.(385-387)tGg>tAg	p.W129*	SDHC_ENST00000392169.2_Nonsense_Mutation_p.W76*|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000470743.2_3'UTR|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Nonsense_Mutation_p.W95*	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	129					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TATCATACCTGGAATGGGATC	0.463			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Carney-Stratakis syndrome				24	143					0	0	0	0	A	161326611	G	A	161326611	4	1	184	1	0	0	0	0	0	1	0	0	14053	1357	47	4	404	4	SDHC	1	161326611	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3660699	161326611	87924010	38	32150											
RGS4	5999	broad.mit.edu	37	chr1	163039306	163039306	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttgcaggtctgccggcttCttgcttgaggaggtaagatt	6	13	14	8	1	2	2	0	1	2	1	2	3	2	3	1	4	3	5	1	4	1	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:163039306C>G	ENST00000421743.2	+	2	483	c.323C>G	c.(322-324)tCt>tGt	p.S108C	RGS4_ENST00000531057.1_Missense_Mutation_p.S11C|RGS4_ENST00000527809.1_Intron|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367909.6_Missense_Mutation_p.S11C|RGS4_ENST00000367908.4_Missense_Mutation_p.S11C	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	11	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						CTGCCGGCTTCTTGCTTGAGG	0.438											OREG0013952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	42					0	0	0	0	G	163039306	C	G	163039306	3	3	184	1	0	0	0	0	1	0	0	0	13390	913	32	2	329	2	RGS4	1	163039306	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1712695	163039306	86211315	39	32151											
DUSP27	92235	broad.mit.edu	37	chr1	167095830	167095830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgagaggctgctggagattGagaaggaggcttcccggagg	10	6	18	7	2	0	3	0	1	0	3	1	8	1	5	1	6	1	3	1	6	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:167095830G>C	ENST00000361200.2	+	6	1628	c.1462G>C	c.(1462-1464)Gag>Cag	p.E488Q	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E488Q|DUSP27_ENST00000443333.1_Missense_Mutation_p.E488Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	488					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCTGGAGATTGAGAAGGAGGC	0.647													7	27					0	0	0	0	C	167095830	G	C	167095830	3	2	184	1	0	0	0	0	1	0	0	0	4860	1291	45	2	1480	2	DUSP27	1	167095830	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4056524	167095830	82154791	40	32152											
DUSP27	92235	broad.mit.edu	37	chr1	167097324	167097324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttttccaaatcccagtcaGaggaacaggacacctcctcc	12	8	7	14	0	1	1	1	0	0	1	5	3	5	3	5	2	1	1	5	2	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:167097324G>A	ENST00000361200.2	+	6	3122	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E986K|DUSP27_ENST00000443333.1_Missense_Mutation_p.E986K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	986	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ATCCCAGTCAGAGGAACAGGA	0.517													12	59					0	0	0	0	A	167097324	G	A	167097324	3	1	184	1	0	0	0	0	1	0	0	0	4860	943	33	2	2974	2	DUSP27	1	167097324	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1494	167097324	82153297	41	32153											
SOAT1	6646	broad.mit.edu	37	chr1	179311274	179311274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgtaatgaaggcccactCatttgtcagagagaacgtgc	11	12	10	8	1	2	3	2	1	0	2	2	4	2	3	1	1	2	1	1	1	3	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:179311274C>T	ENST00000367619.3	+	8	949	c.806C>T	c.(805-807)tCa>tTa	p.S269L	SOAT1_ENST00000535686.1_Missense_Mutation_p.S5L|SOAT1_ENST00000540564.1_Missense_Mutation_p.S211L|SOAT1_ENST00000539888.1_Missense_Mutation_p.S204L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	269					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	AAGGCCCACTCATTTGTCAGA	0.408													14	52					0	0	0	0	T	179311274	C	T	179311274	3	4	184	1	0	0	0	0	1	0	0	0	14998	838	29	2	832	2	SOAT1	1	179311274	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	12213950	179311274	69939347	42	32154											
QSOX1	5768	broad.mit.edu	37	chr1	180163447	180163447	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgagcagatggctgctgcctCcatgcaccgggtggggagtc	6	7	16	12	2	0	1	0	0	0	1	2	3	1	2	3	4	4	4	3	4	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:180163447C>G	ENST00000367602.3	+	11	1462	c.1388C>G	c.(1387-1389)tCc>tGc	p.S463C	QSOX1_ENST00000367600.5_Missense_Mutation_p.S463C			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	463	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTGCTGCCTCCATGCACCGG	0.627													12	48					0	0	0	0	G	180163447	C	G	180163447	3	3	184	1	0	0	0	0	1	0	0	0	12965	855	30	2	1430	2	QSOX1	1	180163447	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	852173	180163447	69087174	43	32155											
RGS16	6004	broad.mit.edu	37	chr1	182569610	182569610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtggcagtctgcaggttCatcctcgtcagctcgtgggt	4	12	14	11	2	3	0	2	0	1	0	6	0	4	0	1	3	2	5	1	3	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:182569610C>T	ENST00000367558.5	-	5	574	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	142	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						TCTGCAGGTTCATCCTCGTCA	0.592													10	64					0	0	0	0	T	182569610	C	T	182569610	3	4	184	1	0	0	0	0	1	0	0	0	13381	826	29	2	186	2	RGS16	1	182569610	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2406163	182569610	66681011	44	32156											
LAMC2	3918	broad.mit.edu	37	chr1	183209330	183209330	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgaatatggatgcagtacaGatggtgagttcctgttgctt	10	13	12	6	1	0	2	0	1	0	1	1	4	1	3	1	2	3	5	1	2	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:183209330G>C	ENST00000264144.4	+	21	3290	c.3225G>C	c.(3223-3225)caG>caC	p.Q1075H	LAMC2_ENST00000493293.1_Missense_Mutation_p.Q1075H|LAMC2_ENST00000461729.1_3'UTR	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1075	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						ATGCAGTACAGATGGTGAGTT	0.473													22	81					0	0	0	0	C	183209330	G	C	183209330	3	2	184	1	0	0	0	0	1	0	0	0	8668	933	33	2	3307	2	LAMC2	1	183209330	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	639720	183209330	66041291	45	32157											
RGL1	23179	broad.mit.edu	37	chr1	183775568	183775568	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtttaccatgtcaccctCaaaagagtccagattcaaca	13	10	6	12	0	3	2	3	0	0	2	4	2	4	2	3	0	2	2	3	0	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:183775568C>T	ENST00000304685.3	+	3	653	c.192C>T	c.(190-192)ctC>ctT	p.L64L	RGL1_ENST00000367531.1_Silent_p.L64L|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000539189.1_Silent_p.L29L|RGL1_ENST00000360851.3_Silent_p.L29L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	29					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ATGTCACCCTCAAAAGAGTCC	0.473													19	80					0	0	0	0	T	183775568	C	T	183775568	2	4	184	1	0	0	0	0	0	0	0	1	13358	813	29	2		2	RGL1	1	183775568	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	566238	183775568	65475053	46	32158											
RGL1	23179	broad.mit.edu	37	chr1	183853004	183853004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagaattcacgtgcttctCagaagatctcgtggcagagc	11	9	11	10	2	3	4	2	0	2	4	5	4	3	4	0	1	3	3	0	1	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:183853004C>T	ENST00000304685.3	+	7	1261	c.800C>T	c.(799-801)tCa>tTa	p.S267L	RGL1_ENST00000367531.1_Missense_Mutation_p.S267L|RGL1_ENST00000536277.1_Missense_Mutation_p.S230L|RGL1_ENST00000539189.1_Missense_Mutation_p.S232L|RGL1_ENST00000360851.3_Missense_Mutation_p.S232L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	232	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ACGTGCTTCTCAGAAGATCTC	0.483													25	111					0	0	0	0	T	183853004	C	T	183853004	3	4	184	1	0	0	0	0	1	0	0	0	13358	838	29	2	822	2	RGL1	1	183853004	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	77436	183853004	65397617	47	32159											
RNF2	6045	broad.mit.edu	37	chr1	185062311	185062311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcgtgatgagtatgaagctCatcaagagagagtattagcc	13	10	12	6	1	2	5	2	3	0	2	3	6	2	5	1	0	2	3	1	0	5	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:185062311C>T	ENST00000367510.3	+	4	655	c.367C>T	c.(367-369)Cat>Tat	p.H123Y	RNF2_ENST00000367509.4_Intron	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	123	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GTATGAAGCTCATCAAGAGAG	0.423													6	44					0	0	0	0	T	185062311	C	T	185062311	3	4	184	1	0	0	0	0	1	0	0	0	13557	826	29	2	377	2	RNF2	1	185062311	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1209307	185062311	64188310	48	32160											
PRG4	10216	broad.mit.edu	37	chr1	186275736	186275736	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actactacaacaaataaacaGacttcaactgatggaaaaga	21	7	5	8	0	1	3	1	1	0	2	1	4	1	4	0	1	5	0	0	1	9	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:186275736G>A	ENST00000445192.2	+	7	930	c.885G>A	c.(883-885)caG>caA	p.Q295Q	PRG4_ENST00000367486.3_Silent_p.Q252Q|PRG4_ENST00000367484.3_Silent_p.Q254Q|PRG4_ENST00000367485.4_Silent_p.Q202Q|PRG4_ENST00000367483.4_Silent_p.Q254Q	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	295					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAATAAACAGACTTCAACTG	0.368													32	174					0	0	0	0	A	186275736	G	A	186275736	2	1	184	1	0	0	0	0	0	0	0	1	12561	933	33	2		2	PRG4	1	186275736	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1213425	186275736	62974885	49	32161											
TPR	7175	broad.mit.edu	37	chr1	186315362	186315362	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcttttccaactgtgtctGaaattcagctgactctttta	8	18	5	10	0	4	2	1	2	3	0	5	2	5	2	1	0	2	1	1	0	3	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:186315362G>A	ENST00000367478.3	-	23	3297	c.3001C>T	c.(3001-3003)Cag>Tag	p.Q1001*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1001					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AACTGTGTCTGAAATTCAGCT	0.348			T	NTRK1	papillary thyroid								10	78					0	0	0	0	A	186315362	G	A	186315362	4	1	184	1	0	0	0	0	0	1	0	0	16511	1299	45	2	4206	2	TPR	1	186315362	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	39626	186315362	62935259	50	32162											
F13B	2165	broad.mit.edu	37	chr1	197031034	197031034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accataacgcatgttctcttGaattttatacaataacttta	14	16	3	8	1	1	1	0	1	1	0	2	1	1	1	1	0	3	2	1	0	7	9			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:197031034G>C	ENST00000367412.1	-	3	374	c.331C>G	c.(331-333)Caa>Gaa	p.Q111E		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	111	Sushi 2.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATGTTCTCTTGAATTTTATAC	0.373													6	35					0	0	0	0	C	197031034	G	C	197031034	3	2	184	1	0	0	0	0	1	0	0	0	5379	1299	45	2	1694	2	F13B	1	197031034	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	10715672	197031034	52219587	51	32163											
KIF14	9928	broad.mit.edu	37	chr1	200524573	200524573	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggcattagttttcatttCtttggtaacctatagagaat	11	17	7	6	0	2	1	1	0	1	1	2	2	2	1	1	2	1	3	1	2	5	8			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:200524573C>G	ENST00000367350.4	-	28	4801	c.4363G>C	c.(4363-4365)Gaa>Caa	p.E1455Q		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1455	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	p.E1455*(1)|p.E1455Q(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTTTTCATTTCTTTGGTAACC	0.264													8	34					0	0	0	0	G	200524573	C	G	200524573	3	3	184	1	0	0	0	0	1	0	0	0	8327	922	32	2	595	2	KIF14	1	200524573	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3493539	200524573	48726048	52	32164											
PLEKHA6	22874	broad.mit.edu	37	chr1	204197211	204197211	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcccagcccctctcacCagacagcatgcggcccctgc	7	4	10	20	2	1	1	1	0	1	1	2	2	1	1	6	2	4	1	6	2	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:204197211C>T	ENST00000272203.3	-	21	3347	c.3031_splice	c.e21+1	p.V1011_splice	PLEKHA6_ENST00000414478.1_Splice_Site_p.V1031_splice	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	1011										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCCCTCTCACCAGACAGCATG	0.647													7	28					0	0	0	0	T	204197211	C	T	204197211	5	4	184	1	0	0	0	0	0	0	1	0	12132	608	21	4	123	4	PLEKHA6	1	204197211	Splice_Site	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3672638	204197211	45053410	53	32165											
PIGR	5284	broad.mit.edu	37	chr1	207112542	207112542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacttgtagcgcccggagtCatcctggctcagctgggcaa	8	8	12	13	2	2	0	2	0	0	0	3	1	3	1	2	3	2	4	2	3	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:207112542C>T	ENST00000356495.4	-	3	493	c.310G>A	c.(310-312)Gac>Aac	p.D104N		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	104	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGCCCGGAGTCATCCTGGCTC	0.582													9	27					0	0	0	0	T	207112542	C	T	207112542	3	4	184	1	0	0	0	0	1	0	0	0	11969	826	29	2	2020	2	PIGR	1	207112542	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2915331	207112542	42138079	54	32166											
KCNH1	3756	broad.mit.edu	37	chr1	210856787	210856787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcgtttaaggccttgatgtCctccttcagctcgtgcctca	5	13	10	13	2	2	1	2	1	0	0	5	1	4	1	4	2	2	2	4	2	1	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:210856787C>T	ENST00000367007.4	-	11	2894	c.2725G>A	c.(2725-2727)Gac>Aac	p.D909N	KCNH1_ENST00000271751.4_Missense_Mutation_p.D936N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	936					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCCTTGATGTCCTCCTTCAGC	0.517													12	50					0	0	0	0	T	210856787	C	T	210856787	3	4	184	1	0	0	0	0	1	0	0	0	8084	855	30	2	167	2	KCNH1	1	210856787	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3744245	210856787	38393834	55	32167											
TP53BP2	7159	broad.mit.edu	37	chr1	223990037	223990037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctggggaagatttccatCagatgaaaccttaggaaaga	14	10	11	6	0	1	4	1	1	0	3	2	6	2	6	2	3	2	1	2	3	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:223990037C>T	ENST00000391878.2	-	10	1387	c.619G>A	c.(619-621)Gat>Aat	p.D207N	TP53BP2_ENST00000343537.7_Missense_Mutation_p.D336N|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	330					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGATTTCCATCAGATGAAACC	0.458													7	49					0	0	0	0	T	223990037	C	T	223990037	3	4	184	1	0	0	0	0	1	0	0	0	16479	826	29	2	2438	2	TP53BP2	1	223990037	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	13133250	223990037	25260584	56	32168											
TP53BP2	7159	broad.mit.edu	37	chr1	223990487	223990487	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttccacagccggtccctCagctcattaacacgcttatc	8	12	5	16	2	3	0	2	0	1	0	6	0	5	0	3	1	3	2	3	1	2	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:223990487C>G	ENST00000391878.2	-	9	1323	c.555G>C	c.(553-555)ctG>ctC	p.L185L	TP53BP2_ENST00000343537.7_Silent_p.L314L	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	308					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCCGGTCCCTCAGCTCATTAA	0.443													32	131					0	0	0	0	G	223990487	C	G	223990487	2	3	184	1	0	0	0	0	0	0	0	1	16479	813	29	2		2	TP53BP2	1	223990487	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	450	223990487	25260134	57	32169											
CAPN9	10753	broad.mit.edu	37	chr1	230907820	230907820	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaacccttggggccaggttGagtggaacgggtcgtggagc	7	7	19	8	2	0	1	0	1	0	0	1	4	0	4	2	7	3	1	2	7	2	2	rs145028426		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:230907820G>C	ENST00000354537.1	+	7	932	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.E221Q|CAPN9_ENST00000271971.2_Missense_Mutation_p.E284Q	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	284	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGGCCAGGTTGAGTGGAACGG	0.572													9	58					0	0	0	0	C	230907820	G	C	230907820	3	2	184	1	0	0	0	0	1	0	0	0	2657	1291	45	2	876	2	CAPN9	1	230907820	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	6917333	230907820	18342801	58	32170											
LYST	1130	broad.mit.edu	37	chr1	235915332	235915332	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcttgtttttgctattttGaagatatccaagcattacaa	11	17	5	8	0	1	2	0	1	1	1	2	2	2	2	2	0	3	3	2	0	6	8			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:235915332G>A	ENST00000389794.3	-	27	7774	c.7600C>T	c.(7600-7602)Caa>Taa	p.Q2534*	LYST_ENST00000389793.2_Nonsense_Mutation_p.Q2534*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2534					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGCTATTTTGAAGATATCCA	0.343													8	26					0	0	0	0	A	235915332	G	A	235915332	4	1	184	1	0	0	0	0	0	1	0	0	9193	1299	45	2	3913	2	LYST	1	235915332	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	5007512	235915332	13335289	59	32171											
LYST	1130	broad.mit.edu	37	chr1	235922480	235922480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaggtaatcaggtcggcGtgggcaggactcatccccag	8	9	13	11	2	2	0	2	0	0	0	4	1	3	1	2	5	0	2	2	5	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:235922480G>A	ENST00000389794.3	-	23	6847	c.6673C>T	c.(6673-6675)Cgc>Tgc	p.R2225C	LYST_ENST00000389793.2_Missense_Mutation_p.R2225C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2225					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCAGGTCGGCGTGGGCAGGAC	0.532													12	55					0	0	0	0	A	235922480	G	A	235922480	3	1	184	1	0	0	0	0	1	0	0	0	9193	1145	40	1	4856	1	LYST	1	235922480	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	7148	235922480	13328141	60	32172											
ZNF124	7678	broad.mit.edu	37	chr1	247322349	247322349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtactgatcttcaatgctCtggtcttcccctttgtttcc	4	19	6	12	0	4	1	1	1	3	0	6	1	6	1	3	1	2	3	3	1	2	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:247322349C>G	ENST00000472531.1	-	3	304	c.177G>C	c.(175-177)caG>caC	p.Q59H	ZNF124_ENST00000491356.1_Missense_Mutation_p.Q59H|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000340684.6_Missense_Mutation_p.Q59H|ZNF124_ENST00000543802.2_Missense_Mutation_p.Q59H	NM_001243740.1	NP_001230669.1	Q15973	ZN124_HUMAN	zinc finger protein 124	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CTTCAATGCTCTGGTCTTCCC	0.353													7	28					0	0	0	0	G	247322349	C	G	247322349	3	3	184	1	0	0	0	0	1	0	0	0	17815	912	32	2	700	2	ZNF124	1	247322349	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	11399869	247322349	1928272	61	32173											
OR2M4	26245	broad.mit.edu	37	chr1	248402793	248402793	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgctgcccttttacctctatCctgcacagaaacatctgcat	9	13	5	14	0	2	1	0	0	2	1	3	1	3	1	3	0	6	3	3	0	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:248402793C>G	ENST00000306687.1	+	1	563	c.563C>G	c.(562-564)tCc>tGc	p.S188C		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTACCTCTATCCTGCACAGAA	0.403													6	141					0	0	0	0	G	248402793	C	G	248402793	3	3	184	1	0	0	0	0	1	0	0	0	11083	855	30	2	565	2	OR2M4	1	248402793	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1080444	248402793	847828	62	32174											
MYT1L	23040	broad.mit.edu	37	chr2	1914020	1914020	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgggtacctgagcacGcggtccgaggcctggctgga	5	7	16	13	3	0	1	0	1	0	0	1	3	1	2	4	5	3	4	4	5	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:1914020G>A	ENST00000399161.2	-	13	2556	c.1809C>T	c.(1807-1809)cgC>cgT	p.R603R	MYT1L_ENST00000428368.2_Silent_p.R601R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	603					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCTGAGCACGCGGTCCGAGG	0.637													5	37					0	0	0	0	A	1914020	G	A	1914020	2	1	184	1	0	0	0	0	0	0	0	1	10177	1074	38	1		1	MYT1L	2	1914020	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08		1914020	241285353	63	32175											
GRHL1	29841	broad.mit.edu	37	chr2	10136520	10136520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accccatctttgaagggcttGatggaagctgtaagtaggat	11	11	12	7	0	1	2	0	2	1	0	1	4	1	4	2	3	1	4	2	3	4	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:10136520G>C	ENST00000324907.9	+	14	1804	c.1668G>C	c.(1666-1668)ttG>ttC	p.L556F	GRHL1_ENST00000405379.2_Missense_Mutation_p.L556F|GRHL1_ENST00000324883.5_Missense_Mutation_p.L367F|GRHL1_ENST00000480736.1_Missense_Mutation_p.L10F	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	556					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TGAAGGGCTTGATGGAAGCTG	0.413													20	82					0	0	0	0	C	10136520	G	C	10136520	3	2	184	1	0	0	0	0	1	0	0	0	6813	1281	45	2	1722	2	GRHL1	2	10136520	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	8222500	10136520	233062853	64	32176											
ROCK2	9475	broad.mit.edu	37	chr2	11361348	11361348	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttctctatagtaggtaaatCcgatgaaaggcagctgattt	12	14	9	6	1	1	2	0	2	1	0	3	3	2	2	1	2	1	4	1	2	6	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:11361348C>G	ENST00000315872.6	-	9	1683	c.1235G>C	c.(1234-1236)gGa>gCa	p.G412A	ROCK2_ENST00000401753.1_Missense_Mutation_p.G169A	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	412	AGC-kinase C-terminal.|Interaction with NPM1.|Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTAGGTAAATCCGATGAAAGG	0.323													24	123					0	0	0	0	G	11361348	C	G	11361348	3	3	184	1	0	0	0	0	1	0	0	0	13603	855	30	2	3031	2	ROCK2	2	11361348	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1224828	11361348	231838025	65	32177											
E2F6	1876	broad.mit.edu	37	chr2	11605933	11605933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgatggggtctcggcaccGacggcgaaccgtctcctccg	5	8	14	14	6	2	1	0	1	2	0	5	3	3	1	4	4	1	2	4	4	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:11605933G>A	ENST00000381525.3	-	1	342	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	AC099344.1_ENST00000598929.1_Intron|E2F6_ENST00000546212.1_5'UTR|E2F6_ENST00000362009.4_Missense_Mutation_p.R25W|E2F6_ENST00000542100.1_5'UTR|E2F6_ENST00000307236.4_5'UTR	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	25					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		TCTCGGCACCGACGGCGAACC	0.716													5	7					0	0	0	0	A	11605933	G	A	11605933	3	1	184	1	0	0	0	0	1	0	0	0	4907	1057	37	1	800	1	E2F6	2	11605933	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	244585	11605933	231593440	66	32178											
NBAS	51594	broad.mit.edu	37	chr2	15417101	15417101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atactgcagcctttcgtgatCaaagccaccaatagtagggt	12	10	9	10	1	1	1	1	1	0	0	2	1	1	1	3	1	4	2	3	1	5	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:15417101C>T	ENST00000281513.5	-	43	5288	c.5263G>A	c.(5263-5265)Gat>Aat	p.D1755N	NBAS_ENST00000441750.1_Missense_Mutation_p.D1635N	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1755										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTTCGTGATCAAAGCCACCA	0.443													6	51					0	0	0	0	T	15417101	C	T	15417101	3	4	184	1	0	0	0	0	1	0	0	0	10256	826	29	2	1892	2	NBAS	2	15417101	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3811168	15417101	227782272	67	32179											
IFT172	26160	broad.mit.edu	37	chr2	27685974	27685974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taatacttgcatattcccggGatacttgatctgcaatctca	11	14	6	10	1	2	1	1	1	2	0	4	2	3	2	1	1	4	2	1	1	5	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:27685974G>T	ENST00000260570.3	-	19	2115	c.2012C>A	c.(2011-2013)tCc>tAc	p.S671Y		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	671					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ATATTCCCGGGATACTTGATC	0.438													8	58					5.4927e-09	5.80757e-09	1	0	T	27685974	G	T	27685974	3	4	184	1	0	0	0	0	1	0	0	0	7610	1174	41	2	3357	2	IFT172	2	27685974	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	12268873	27685974	215513399	68	32180											
LCLAT1	253558	broad.mit.edu	37	chr2	30756062	30756062	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagaaagaagtgtcattatCatgaaccatcggacaagaat	17	8	10	6	1	2	4	2	1	0	3	3	6	2	5	1	2	1	0	1	2	6	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:30756062C>G	ENST00000309052.4	+	4	569	c.360C>G	c.(358-360)atC>atG	p.I120M	LCLAT1_ENST00000359433.1_Missense_Mutation_p.I120M|LCLAT1_ENST00000379509.3_Missense_Mutation_p.I82M|LCLAT1_ENST00000540623.1_Missense_Mutation_p.I82M|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000319406.4_Missense_Mutation_p.I120M	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	120					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GTGTCATTATCATGAACCATC	0.403													13	133					0	0	0	0	G	30756062	C	G	30756062	3	3	184	1	0	0	0	0	1	0	0	0	8730	816	29	2	370	2	LCLAT1	2	30756062	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3070088	30756062	212443311	69	32181											
BIRC6	57448	broad.mit.edu	37	chr2	32626362	32626362	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatggaactgacagaatatCttgctttgggtcggggagct	9	11	15	6	1	1	2	0	1	1	1	2	5	1	5	0	5	3	2	0	5	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:32626362C>G	ENST00000421745.2	+	7	1300	c.1166C>G	c.(1165-1167)tCt>tGt	p.S389C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	389					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GACAGAATATCTTGCTTTGGG	0.453													41	230					0	0	0	0	G	32626362	C	G	32626362	3	3	184	1	0	0	0	0	1	0	0	0	1443	913	32	2	1192	2	BIRC6	2	32626362	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1870300	32626362	210573011	70	32182											
CDKL4	344387	broad.mit.edu	37	chr2	39411779	39411779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacatctgagaacttttcctCaagagtttcctgaaaaacaa	16	11	5	9	0	2	3	1	2	1	2	4	4	4	3	2	0	3	1	2	0	6	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:39411779C>G	ENST00000378803.1	-	7	744	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	CDKL4_ENST00000395035.3_Missense_Mutation_p.E249Q	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	249	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	p.E249Q(1)		breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				AACTTTTCCTCAAGAGTTTCC	0.323													3	40					0	0	0	0	G	39411779	C	G	39411779	3	3	184	1	0	0	0	0	1	0	0	0	3185	835	29	2	210	2	CDKL4	2	39411779	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	6785417	39411779	203787594	71	32183											
LRPPRC	10128	broad.mit.edu	37	chr2	44116941	44116941	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcgtaacgctttagaaacaGatcatccaattttgtattct	12	15	6	8	2	2	2	1	0	1	2	3	2	3	2	1	0	3	3	1	0	5	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:44116941G>C	ENST00000260665.7	-	37	4117	c.4060C>G	c.(4060-4062)Ctg>Gtg	p.L1354V		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1354	RNA-binding.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTAGAAACAGATCATCCAAT	0.358													11	74					0	0	0	0	C	44116941	G	C	44116941	3	2	184	1	0	0	0	0	1	0	0	0	9029	933	33	2	132	2	LRPPRC	2	44116941	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4705162	44116941	199082432	72	32184											
SOCS5	9655	broad.mit.edu	37	chr2	46986106	46986106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaaaagtttggtagaactcGaagtggacttcaaaggagag	16	9	12	4	1	1	2	1	0	0	2	2	5	1	3	0	3	1	2	0	3	7	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:46986106G>A	ENST00000306503.5	+	2	609	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	SOCS5_ENST00000394861.2_Missense_Mutation_p.R146Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	146					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGTAGAACTCGAAGTGGACTT	0.468													16	67					0	0	0	0	A	46986106	G	A	46986106	3	1	184	1	0	0	0	0	1	0	0	0	15005	1058	37	1	439	1	SOCS5	2	46986106	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2869165	46986106	196213267	73	32185											
SPTBN1	6711	broad.mit.edu	37	chr2	54876298	54876298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtggtcgcagggtcccatGaactgggacaggactatgag	10	7	16	8	1	0	2	0	2	0	0	2	4	1	4	1	5	1	1	1	5	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:54876298G>A	ENST00000333896.5	+	24	5519	c.5134G>A	c.(5134-5136)Gaa>Aaa	p.E1712K	SPTBN1_ENST00000356805.4_Missense_Mutation_p.E1725K	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1725	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGGTCCCATGAACTGGGACA	0.552													12	64					0	0	0	0	A	54876298	G	A	54876298	3	1	184	1	0	0	0	0	1	0	0	0	15209	1291	45	2	5380	2	SPTBN1	2	54876298	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	7890192	54876298	188323075	74	32186											
PNO1	56902	broad.mit.edu	37	chr2	68389791	68389791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacaaggatagttttggctGatgtgtaagtatctgatctt	10	15	12	4	0	2	2	0	2	2	0	2	4	2	4	0	3	0	4	0	3	4	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:68389791G>A	ENST00000263657.2	+	5	707	c.616G>A	c.(616-618)Gat>Aat	p.D206N		NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	206	KH.					nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						AGTTTTGGCTGATGTGTAAGT	0.353													13	65					0	0	0	0	A	68389791	G	A	68389791	3	1	184	1	0	0	0	0	1	0	0	0	12233	1290	45	2	634	2	PNO1	2	68389791	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	13513493	68389791	174809582	75	32187											
HK2	3099	broad.mit.edu	37	chr2	75061710	75061710	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtcgggccgcggcaggatGattgcctcgcatctgcttgc	4	9	14	14	5	1	1	0	1	1	0	3	2	1	2	3	3	3	3	3	3	0	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:75061710G>A	ENST00000290573.2	+	1	603	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	1	Hydrophobic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GCGGCAGGATGATTGCCTCGC	0.677													6	42					0	0	0	0	A	75061710	G	A	75061710	1	1	184	1	0	0	0	0	0	0	0	0	7241	1290	45	2		2	HK2	2	75061710	Translation_Start_Site	SNP	G	TCGA-CR-6481-01A-11D-1870-08	6671919	75061710	168137663	76	32188											
VAMP5	10791	broad.mit.edu	37	chr2	85818887	85818887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgccagcagcaggcgaacGaggtgacggaaattatgcgt	11	6	16	8	4	0	1	0	1	0	0	0	4	0	2	1	4	5	2	1	4	3	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:85818887G>A	ENST00000306384.4	+	2	126	c.43G>A	c.(43-45)Gag>Aag	p.E15K		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	15	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system				NS(1)|large_intestine(3)|lung(1)	5						GCAGGCGAACGAGGTGACGGA	0.602													21	80					0	0	0	0	A	85818887	G	A	85818887	3	1	184	1	0	0	0	0	1	0	0	0	17212	1059	37	1	49	1	VAMP5	2	85818887	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	10757177	85818887	157380486	77	32189											
PROM2	150696	broad.mit.edu	37	chr2	95953210	95953210	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgtggcctgggtgagagagGaggtgagtggggcctcagaa	9	6	20	6	1	1	4	1	2	0	2	1	6	1	5	2	6	0	0	2	6	1	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:95953210G>T	ENST00000317620.9	+	20	2375	c.2242G>T	c.(2242-2244)Gag>Tag	p.E748*	PROM2_ENST00000317668.4_Nonsense_Mutation_p.E748*|PROM2_ENST00000403131.2_Nonsense_Mutation_p.E748*|PROM2_ENST00000542147.1_Nonsense_Mutation_p.E699*	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	748						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGTGAGAGAGGAGGTGAGTGG	0.642													5	40					0.000602214	0.000618994	1	0	T	95953210	G	T	95953210	4	4	184	1	0	0	0	0	0	1	0	0	12636	1175	41	2	2320	2	PROM2	2	95953210	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	10134323	95953210	147246163	78	32190											
AFF3	3899	broad.mit.edu	37	chr2	100203693	100203693	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcttgaagagctgtctttCtctccctgggacttcttgat	6	16	9	10	0	4	3	0	2	4	1	6	4	5	4	1	1	1	1	1	1	1	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:100203693C>G	ENST00000317233.4	-	15	2749	c.2514G>C	c.(2512-2514)gaG>gaC	p.E838D	AFF3_ENST00000356421.2_Missense_Mutation_p.E863D|AFF3_ENST00000409579.1_Missense_Mutation_p.E863D|AFF3_ENST00000409236.1_Missense_Mutation_p.E838D	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	838					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGCTGTCTTTCTCTCCCTGGG	0.453													32	148					0	0	0	0	G	100203693	C	G	100203693	3	3	184	1	0	0	0	0	1	0	0	0	358	912	32	2	1206	2	AFF3	2	100203693	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	4250483	100203693	142995680	79	32191											
NMS	129521	broad.mit.edu	37	chr2	101096984	101096984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggactgctgcagtggacttCaccaagaaggtacacaagag	13	6	13	9	0	1	2	1	0	0	2	1	4	1	4	1	3	3	3	1	3	4	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:101096984C>T	ENST00000376865.1	+	7	370	c.363C>T	c.(361-363)ttC>ttT	p.F121F		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	121					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CAGTGGACTTCACCAAGAAGG	0.562													8	52					0	0	0	0	T	101096984	C	T	101096984	2	4	184	1	0	0	0	0	0	0	0	1	10572	825	29	2		2	NMS	2	101096984	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	893291	101096984	142102389	80	32192											
CNTNAP5	129684	broad.mit.edu	37	chr2	124783248	124783248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggattctttaccacggctGaccagcgttttgactttgct	7	15	9	10	2	1	2	0	2	1	0	1	3	1	3	2	2	3	3	2	2	1	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:124783248G>A	ENST00000431078.1	+	1	385	c.21G>A	c.(19-21)ctG>ctA	p.L7L	CNTNAP5_ENST00000423939.2_3'UTR	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	7					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TACCACGGCTGACCAGCGTTT	0.547													8	71					0	0	0	0	A	124783248	G	A	124783248	2	1	184	1	0	0	0	0	0	0	0	1	3680	1277	45	2		2	CNTNAP5	2	124783248	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	23686264	124783248	118416125	81	32193											
DARS	1615	broad.mit.edu	37	chr2	136740989	136740989	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtttttcttgtgattgtatCattgaagatattccatatct	9	20	7	5	0	3	3	1	2	2	1	4	3	4	3	1	1	0	2	1	1	4	9			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:136740989C>G	ENST00000264161.4	-	2	317	c.102G>C	c.(100-102)atG>atC	p.M34I	DARS_ENST00000537273.1_Intron	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	34					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GTGATTGTATCATTGAAGATA	0.299													2	8					0	0	0	0	G	136740989	C	G	136740989	3	3	184	1	0	0	0	0	1	0	0	0	4274	826	29	2	1463	2	DARS	2	136740989	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	11957741	136740989	106458384	82	32194											
NMI	9111	broad.mit.edu	37	chr2	152132175	152132175	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattttcattttagaaacttCtacataaacctggaaaatga	16	14	5	6	0	2	2	1	1	1	1	2	4	2	3	1	1	3	0	1	1	7	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:152132175C>G	ENST00000243346.5	-	6	927	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	153					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		TTAGAAACTTCTACATAAACC	0.343													6	73					0	0	0	0	G	152132175	C	G	152132175	3	3	184	1	0	0	0	0	1	0	0	0	10567	922	32	2	478	2	NMI	2	152132175	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	15391186	152132175	91067198	83	32195											
PKP4	8502	broad.mit.edu	37	chr2	159530188	159530188	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatccttgctctctacctaGatcatctctgaaagtggtga	10	14	7	10	0	3	3	1	2	2	1	6	3	4	3	2	1	2	1	2	1	4	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:159530188G>A	ENST00000389757.3	+	18	3049		c.e18-1		PKP4_ENST00000389759.3_Splice_Site|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4						cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TCTCTACCTAGATCATCTCTG	0.478										HNSCC(62;0.18)			11	53					0	0	0	0	A	159530188	G	A	159530188	5	1	184	1	0	0	0	0	0	0	1	0	12059	956	33	2	2990	2	PKP4	2	159530188	Splice_Site	SNP	G	TCGA-CR-6481-01A-11D-1870-08	7398013	159530188	83669185	84	32196											
WDSUB1	151525	broad.mit.edu	37	chr2	160092614	160092614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttggtgtaagtaccgctGaaggaagaacaagatttgtc	13	12	11	5	1	0	3	0	1	0	2	1	4	0	4	1	2	2	3	1	2	7	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:160092614G>A	ENST00000409990.3	-	11	1617	c.1361C>T	c.(1360-1362)tCa>tTa	p.S454L	WDSUB1_ENST00000409124.1_Missense_Mutation_p.S407L|WDSUB1_ENST00000392796.3_Missense_Mutation_p.S454L|WDSUB1_ENST00000358147.4_Missense_Mutation_p.S362L|WDSUB1_ENST00000359774.4_Missense_Mutation_p.S454L	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	454	U-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						AAGTACCGCTGAAGGAAGAAC	0.333													10	36					0	0	0	0	A	160092614	G	A	160092614	3	1	184	1	0	0	0	0	1	0	0	0	17437	1294	45	2	73	2	WDSUB1	2	160092614	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	562426	160092614	83106759	85	32197											
SCN3A	6328	broad.mit.edu	37	chr2	166011139	166011139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaccaggacaaaaaatatCatgtatgttttcccagcagc	15	10	7	9	0	1	1	1	1	0	0	2	2	2	2	2	1	2	3	2	1	5	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:166011139C>T	ENST00000360093.3	-	11	1694	c.1203G>A	c.(1201-1203)atG>atA	p.M401I	SCN3A_ENST00000283254.7_Missense_Mutation_p.M401I|SCN3A_ENST00000409101.3_Missense_Mutation_p.M401I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	401				M -> T (in Ref. 4; AAC29514/AAC29515).		voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAAAAAATATCATGTATGTTT	0.413													17	65					0	0	0	0	T	166011139	C	T	166011139	3	4	184	1	0	0	0	0	1	0	0	0	14005	826	29	2	4871	2	SCN3A	2	166011139	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	5918525	166011139	77188234	86	32198											
SCN7A	6332	broad.mit.edu	37	chr2	167262119	167262119	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctttgaataggtgacttttCcttagctttgtcaaaatagg	10	16	9	6	0	1	2	1	2	0	0	2	2	2	2	1	2	1	2	1	2	6	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:167262119C>A	ENST00000409855.1	-	25	5146	c.5020G>T	c.(5020-5022)Gaa>Taa	p.E1674*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1674					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1674K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GGTGACTTTTCCTTAGCTTTG	0.353													38	189					3.09479e-21	3.33053e-21	1	0	A	167262119	C	A	167262119	4	1	184	1	0	0	0	0	0	1	0	0	14010	864	30	2	32	2	SCN7A	2	167262119	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1250980	167262119	75937254	87	32199											
ABCB11	8647	broad.mit.edu	37	chr2	169869909	169869909	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgtagtcaataaaaacatCtgtcattgtgccaaaaatga	16	11	7	7	1	3	1	2	1	1	0	4	1	3	1	1	0	2	1	1	0	7	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:169869909C>G	ENST00000263817.6	-	5	386	c.262G>C	c.(262-264)Gat>Cat	p.D88H		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	88	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ATAAAAACATCTGTCATTGTG	0.423													34	192					0	0	0	0	G	169869909	C	G	169869909	3	3	184	1	0	0	0	0	1	0	0	0	42	913	32	2	3799	2	ABCB11	2	169869909	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2607790	169869909	73329464	88	32200											
TTN	7273	broad.mit.edu	37	chr2	179497295	179497295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtgcttatcttcagcttCaaacatgtattttgcttcat	8	19	6	8	0	4	0	3	0	1	0	4	0	4	0	0	0	4	4	0	0	3	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:179497295C>G	ENST00000589042.1	-	235	43662	c.43438G>C	c.(43438-43440)Gaa>Caa	p.E14480Q	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12839Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5540Q|TTN_ENST00000460472.2_Missense_Mutation_p.E5415Q|TTN_ENST00000342992.6_Missense_Mutation_p.E11912Q|TTN_ENST00000342175.6_Missense_Mutation_p.E5607Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12839	Fibronectin type-III 4.						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)			TCTTCAGCTTCAAACATGTAT	0.348													25	104					0	0	0	0	G	179497295	C	G	179497295	3	3	184	1	0	0	0	0	1	0	0	0	16831	835	29	2	64767	2	TTN	2	179497295	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	9627386	179497295	63702078	89	32201											
TTN	7273	broad.mit.edu	37	chr2	179497313	179497313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaacatgtattttgcttCatcttcaaaagcagctgact	12	15	5	9	0	4	1	3	1	1	0	4	1	4	1	0	0	4	4	0	0	4	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:179497313C>T	ENST00000589042.1	-	235	43644	c.43420G>A	c.(43420-43422)Gaa>Aaa	p.E14474K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12833K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5534K|TTN_ENST00000460472.2_Missense_Mutation_p.E5409K|TTN_ENST00000342992.6_Missense_Mutation_p.E11906K|TTN_ENST00000342175.6_Missense_Mutation_p.E5601K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12833	Fibronectin type-III 4.						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)			TATTTTGCTTCATCTTCAAAA	0.373													30	144					0	0	0	0	T	179497313	C	T	179497313	3	4	184	1	0	0	0	0	1	0	0	0	16831	835	29	2	64785	2	TTN	2	179497313	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	18	179497313	63702060	90	32202											
TTN	7273	broad.mit.edu	37	chr2	179547472	179547472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgttcatactcccgctcctCgtattcttcatattggtcat	6	17	5	13	3	4	0	3	0	1	0	8	0	6	0	2	1	1	3	2	1	3	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:179547472C>T	ENST00000589042.1	-	135	33270	c.33046G>A	c.(33046-33048)Gag>Aag	p.E11016K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10699K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9772K|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10699	Glu-rich.|Pro-rich.						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)			TCCCGCTCCTCGTATTCTTCA	0.358													30	216					0	0	0	0	T	179547472	C	T	179547472	3	4	184	1	0	0	0	0	1	0	0	0	16831	893	31	1	71395	1	TTN	2	179547472	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	50159	179547472	63651901	91	32203											
DUSP19	142679	broad.mit.edu	37	chr2	183960237	183960237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggtttcctgatgaattctGaacaaacctcatttaccagt	12	14	6	9	0	2	3	1	3	1	0	3	3	3	3	3	1	3	1	3	1	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:183960237G>A	ENST00000354221.4	+	4	680	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	DUSP19_ENST00000342619.6_Missense_Mutation_p.E118K|DUSP19_ENST00000469344.1_3'UTR|AC064871.3_ENST00000444562.1_RNA|AC064871.3_ENST00000413954.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	169	Tyrosine-protein phosphatase.				JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						GATGAATTCTGAACAAACCTC	0.388													19	130					0	0	0	0	A	183960237	G	A	183960237	3	1	184	1	0	0	0	0	1	0	0	0	4854	1291	45	2	519	2	DUSP19	2	183960237	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4412765	183960237	59239136	92	32204											
DUSP19	142679	broad.mit.edu	37	chr2	183960345	183960345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacatatcaagagggcaaaGaaagcaataagtgtgacaga	19	6	11	5	0	1	4	1	1	0	3	1	4	1	4	0	1	2	3	0	1	7	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:183960345G>A	ENST00000354221.4	+	4	788	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	DUSP19_ENST00000342619.6_Missense_Mutation_p.E154K|DUSP19_ENST00000469344.1_3'UTR|AC064871.3_ENST00000444562.1_RNA|AC064871.3_ENST00000413954.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	205					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						AGAGGGCAAAGAAAGCAATAA	0.398													10	50					0	0	0	0	A	183960345	G	A	183960345	3	1	184	1	0	0	0	0	1	0	0	0	4854	943	33	2	627	2	DUSP19	2	183960345	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	108	183960345	59239028	93	32205											
ZNF804A	91752	broad.mit.edu	37	chr2	185800988	185800988	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcaatgtgcagagacaaaGaaactgttcaaactcaagag	18	6	10	7	0	2	3	2	0	0	3	2	4	2	3	0	1	3	3	0	1	5	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:185800988G>C	ENST00000302277.6	+	4	1459	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	289						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGAGACAAAGAAACTGTTCA	0.363													9	52					0	0	0	0	C	185800988	G	C	185800988	3	2	184	1	0	0	0	0	1	0	0	0	18263	943	33	2	879	2	ZNF804A	2	185800988	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1840643	185800988	57398385	94	32206											
ZSWIM2	151112	broad.mit.edu	37	chr2	187702178	187702178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttttaatggtgcaaactCtttcctgcacagaggacatt	11	13	8	9	0	1	1	0	0	1	1	2	2	2	2	1	2	3	3	1	2	2	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:187702178C>G	ENST00000295131.2	-	5	637	c.598G>C	c.(598-600)Gag>Cag	p.E200Q		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	200					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GGTGCAAACTCTTTCCTGCAC	0.383													10	85					0	0	0	0	G	187702178	C	G	187702178	3	3	184	1	0	0	0	0	1	0	0	0	18332	922	32	2	1323	2	ZSWIM2	2	187702178	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1901190	187702178	55497195	95	32207											
AOX1	316	broad.mit.edu	37	chr2	201515837	201515837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagttgctgtggaaaagttCaatgcagagaattattggaa	16	11	11	3	0	1	1	1	0	0	1	1	4	1	3	0	2	2	4	0	2	7	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:201515837C>T	ENST00000374700.2	+	26	3229	c.2988C>T	c.(2986-2988)ttC>ttT	p.F996F	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	996					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGGAAAAGTTCAATGCAGAGA	0.473													14	142					0	0	0	0	T	201515837	C	T	201515837	2	4	184	1	0	0	0	0	0	0	0	1	730	825	29	2		2	AOX1	2	201515837	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	13813659	201515837	41683536	96	32208											
MPP4	58538	broad.mit.edu	37	chr2	202550741	202550741	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaggggttcaaaatctttCtgagctatcgtgtcatgggc	10	12	12	7	1	4	2	2	1	2	1	5	2	4	2	0	3	1	2	0	3	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:202550741C>T	ENST00000409474.3	-	6	600	c.393G>A	c.(391-393)caG>caA	p.Q131Q	MPP4_ENST00000359962.5_Silent_p.Q131Q|MPP4_ENST00000396886.3_Intron|MPP4_ENST00000447335.2_Silent_p.Q131Q|MPP4_ENST00000428900.2_Silent_p.Q131Q|MPP4_ENST00000409143.1_Silent_p.Q104Q|MPP4_ENST00000315506.7_Silent_p.Q131Q	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	131	L27 2.					cytoplasm	protein binding			kidney(1)|lung(11)	12						CAAAATCTTTCTGAGCTATCG	0.493													29	137					0	0	0	0	T	202550741	C	T	202550741	2	4	184	1	0	0	0	0	0	0	0	1	9806	912	32	2		2	MPP4	2	202550741	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1034904	202550741	40648632	97	32209											
ICOS	29851	broad.mit.edu	37	chr2	204820605	204820605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctatacaacttggaccattCtcatgccaactattacttct	11	15	3	12	0	3	0	1	0	3	0	4	1	3	1	2	1	5	0	2	1	6	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:204820605C>T	ENST00000316386.6	+	2	372	c.305C>T	c.(304-306)tCt>tTt	p.S102F	ICOS_ENST00000435193.1_Missense_Mutation_p.S102F	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	102	Ig-like V-type.				immune response|T cell costimulation	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						TTGGACCATTCTCATGCCAAC	0.358													9	69					0	0	0	0	T	204820605	C	T	204820605	3	4	184	1	0	0	0	0	1	0	0	0	7539	913	32	2	311	2	ICOS	2	204820605	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2269864	204820605	38378768	98	32210											
ERBB4	2066	broad.mit.edu	37	chr2	212566850	212566850	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagggactggaactgtagaGaggtgatgccctgttgcttg	8	11	15	7	0	1	2	1	1	0	1	1	5	1	4	1	3	3	3	1	3	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:212566850G>C	ENST00000342788.4	-	12	1641	c.1331C>G	c.(1330-1332)tCt>tGt	p.S444C	ERBB4_ENST00000436443.1_Missense_Mutation_p.S444C|ERBB4_ENST00000402597.1_Missense_Mutation_p.S444C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	444					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GAACTGTAGAGAGGTGATGCC	0.458										TSP Lung(8;0.080)			13	83					0	0	0	0	C	212566850	G	C	212566850	3	2	184	1	0	0	0	0	1	0	0	0	5247	942	33	2	2663	2	ERBB4	2	212566850	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	7746245	212566850	30632523	99	32211											
TNS1	7145	broad.mit.edu	37	chr2	218749773	218749773	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcacctttgaaagcatcatCaaggtcctccttcccaaaga	12	9	6	14	1	2	2	2	1	0	1	5	2	5	2	4	1	1	2	4	1	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:218749773C>G	ENST00000171887.4	-	14	1308	c.856G>C	c.(856-858)Gat>Cat	p.D286H	TNS1_ENST00000430930.1_Missense_Mutation_p.D286H|TNS1_ENST00000310858.6_Missense_Mutation_p.D317H|TNS1_ENST00000419504.1_Missense_Mutation_p.D286H	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	286	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AAAGCATCATCAAGGTCCTCC	0.577													4	52					0	0	0	0	G	218749773	C	G	218749773	3	3	184	1	0	0	0	0	1	0	0	0	16437	826	29	2	4431	2	TNS1	2	218749773	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	6182923	218749773	24449600	100	32212											
ATG9A	79065	broad.mit.edu	37	chr2	220085575	220085575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccctccaagaggcagcCgagagaaatgagagggaacc	14	2	12	13	1	0	3	0	1	0	3	1	7	1	4	5	2	2	1	5	2	3	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:220085575C>T	ENST00000409618.1	-	15	2847	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q	ATG9A_ENST00000409422.1_Missense_Mutation_p.R742Q|ATG9A_ENST00000396761.2_Missense_Mutation_p.R803Q|ATG9A_ENST00000361242.4_Missense_Mutation_p.R803Q			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	803					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGAGGCAGCCGAGAGAAATG	0.577													11	44					0	0	0	0	T	220085575	C	T	220085575	3	4	184	1	0	0	0	0	1	0	0	0	1106	652	23	1	119	1	ATG9A	2	220085575	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1335802	220085575	23113798	101	32213											
COL4A4	1286	broad.mit.edu	37	chr2	227958967	227958967	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcctggaagcccaggaaGaccaggaaatccttgtggcc	10	8	11	12	0	1	1	0	0	1	1	3	4	2	4	5	4	1	0	5	4	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:227958967G>C	ENST00000396625.3	-	20	1450	c.1243C>G	c.(1243-1245)Ctt>Gtt	p.L415V	COL4A4_ENST00000329662.7_Missense_Mutation_p.L415V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	415	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGCCCAGGAAGACCAGGAAAT	0.502													5	33					0	0	0	0	C	227958967	G	C	227958967	3	2	184	1	0	0	0	0	1	0	0	0	3723	942	33	2	3945	2	COL4A4	2	227958967	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	7873392	227958967	15240406	102	32214											
COL4A3	1285	broad.mit.edu	37	chr2	228109061	228109061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggacttccaggactcaCgggttccaaaggtgtaaggg	10	8	13	10	1	1	0	1	0	0	0	4	2	4	2	3	5	0	2	3	5	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:228109061C>T	ENST00000396578.3	+	4	422	c.260C>T	c.(259-261)aCg>aTg	p.T87M	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	87	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCAGGACTCACGGGTTCCAAA	0.403													13	73					0	0	0	0	T	228109061	C	T	228109061	3	4	184	1	0	0	0	0	1	0	0	0	3721	536	19	1	274	1	COL4A3	2	228109061	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	150094	228109061	15090312	103	32215											
GIGYF2	26058	broad.mit.edu	37	chr2	233671258	233671258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgggctattttactatgtCtttattggtgaagagagcgt	8	15	13	5	2	1	2	0	1	1	1	1	3	1	2	0	3	2	1	0	3	5	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:233671258C>G	ENST00000373566.3	+	16	1960	c.1763C>G	c.(1762-1764)tCt>tGt	p.S588C	GIGYF2_ENST00000409480.1_Missense_Mutation_p.S588C|GIGYF2_ENST00000452341.2_Missense_Mutation_p.S397C|GIGYF2_ENST00000409451.3_Missense_Mutation_p.S587C|GIGYF2_ENST00000409196.3_Missense_Mutation_p.S560C|GIGYF2_ENST00000373563.4_Missense_Mutation_p.S566C|GIGYF2_ENST00000409547.1_Missense_Mutation_p.S566C			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	566					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTACTATGTCTTTATTGGTG	0.438													33	147					0	0	0	0	G	233671258	C	G	233671258	3	3	184	1	0	0	0	0	1	0	0	0	6429	913	32	2	1817	2	GIGYF2	2	233671258	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	5562197	233671258	9528115	104	32216											
NEU2	4759	broad.mit.edu	37	chr2	233899032	233899032	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actgaccacgggaggacctgGagctcccccagagacctcac	10	4	11	16	1	1	2	1	1	0	1	2	6	2	5	5	3	1	1	5	3	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:233899032G>A	ENST00000233840.3	+	2	408	c.408G>A	c.(406-408)tgG>tgA	p.W136*		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	136							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GGAGGACCTGGAGCTCCCCCA	0.637													10	37					0	0	0	0	A	233899032	G	A	233899032	4	1	184	1	0	0	0	0	0	1	0	0	10412	1183	41	2	414	2	NEU2	2	233899032	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	227774	233899032	9300341	105	32217											
SH3BP4	23677	broad.mit.edu	37	chr2	235950502	235950502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagccctgctggaccccccGctggagctcaacagtgacag	10	5	11	15	1	1	1	1	1	0	0	1	3	1	3	4	2	4	3	4	2	2	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:235950502G>A	ENST00000409212.1	+	4	1596	c.1089G>A	c.(1087-1089)ccG>ccA	p.P363P	SH3BP4_ENST00000392011.2_Silent_p.P363P|SH3BP4_ENST00000344528.4_Silent_p.P363P			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	363					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGGACCCCCCGCTGGAGCTCA	0.597													6	45					0	0	0	0	A	235950502	G	A	235950502	2	1	184	1	0	0	0	0	0	0	0	1	14333	1074	38	1		1	SH3BP4	2	235950502	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2051470	235950502	7248871	106	32218											
CNTN6	27255	broad.mit.edu	37	chr3	1367580	1367580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgggaatgtaaagctagtgGaaagccaaacccttggtata	14	9	11	7	0	0	0	0	0	0	0	0	2	0	2	2	3	3	3	2	3	8	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:1367580G>T	ENST00000446702.2	+	9	1655	c.1028G>T	c.(1027-1029)gGa>gTa	p.G343V	CNTN6_ENST00000539053.1_Missense_Mutation_p.G271V|CNTN6_ENST00000350110.2_Missense_Mutation_p.G343V			Q9UQ52	CNTN6_HUMAN	contactin 6	343	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAGCTAGTGGAAAGCCAAAC	0.393													6	53					0.0215528	0.0217824	1	0	T	1367580	G	T	1367580	3	4	184	1	0	0	0	0	1	0	0	0	3675	1174	41	2	1058	2	CNTN6	3	1367580	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08		1367580	196654850	107	32219											
GADL1	339896	broad.mit.edu	37	chr3	30885930	30885930	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgccaatcccaagaaaaGaggctgccttcttcatagag	13	8	9	11	0	2	3	1	0	1	3	3	3	3	3	3	1	2	1	3	1	5	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:30885930G>C	ENST00000454381.3	-	7	726	c.680C>G	c.(679-681)tCt>tGt	p.S227C	GADL1_ENST00000282538.5_Missense_Mutation_p.S227C			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	227					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	CCCAAGAAAAGAGGCTGCCTT	0.433													35	150					0	0	0	0	C	30885930	G	C	30885930	3	2	184	1	0	0	0	0	1	0	0	0	6233	942	33	2	921	2	GADL1	3	30885930	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	29518350	30885930	167136500	108	32220											
CLASP2	23122	broad.mit.edu	37	chr3	33585011	33585011	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcgtggtgttggtcttgtCaaaggactccccatggaact	8	12	12	9	1	2	0	1	0	1	0	4	3	3	2	2	4	1	1	2	4	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:33585011C>T	ENST00000399362.4	-	32	3692	c.3339G>A	c.(3337-3339)ttG>ttA	p.L1113L	CLASP2_ENST00000307312.7_Silent_p.L595L|CLASP2_ENST00000539981.1_Silent_p.L883L|CLASP2_ENST00000480013.1_Silent_p.L893L|CLASP2_ENST00000468888.2_Silent_p.L1114L|CLASP2_ENST00000359576.5_Silent_p.L1105L|CLASP2_ENST00000461133.3_Silent_p.L873L	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1115										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTGGTCTTGTCAAAGGACTCC	0.393													13	80					0	0	0	0	T	33585011	C	T	33585011	2	4	184	1	0	0	0	0	0	0	0	1	3485	825	29	2		2	CLASP2	3	33585011	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2699081	33585011	164437419	109	32221											
SCN5A	6331	broad.mit.edu	37	chr3	38645426	38645426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagtgatgtgtggtggCtctcgctctcccccgctgtg	3	11	13	14	2	2	1	0	1	2	0	4	1	2	1	3	2	1	4	3	2	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:38645426C>T	ENST00000413689.1	-	12	1860	c.1667G>A	c.(1666-1668)aGc>aAc	p.S556N	SCN5A_ENST00000414099.2_Missense_Mutation_p.S556N|SCN5A_ENST00000333535.4_Missense_Mutation_p.S556N|SCN5A_ENST00000451551.2_Missense_Mutation_p.S556N|SCN5A_ENST00000443581.1_Missense_Mutation_p.S556N|SCN5A_ENST00000450102.2_Missense_Mutation_p.S556N|SCN5A_ENST00000455624.2_Missense_Mutation_p.S556N|SCN5A_ENST00000449557.2_Missense_Mutation_p.S556N|SCN5A_ENST00000425664.1_Missense_Mutation_p.S556N|SCN5A_ENST00000423572.2_Missense_Mutation_p.S556N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	556					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGTGTGGTGGCTCTCGCTCTC	0.642													7	41					0	0	0	0	T	38645426	C	T	38645426	3	4	184	1	0	0	0	0	1	0	0	0	14009	797	28	4	4451	4	SCN5A	3	38645426	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	5060415	38645426	159377004	110	32222											
ULK4	54986	broad.mit.edu	37	chr3	41973352	41973352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacctttgactctacttttCatgcttttcttcaggacatt	8	19	4	10	0	4	1	2	1	2	0	4	2	4	2	1	1	3	1	1	1	2	9			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:41973352C>T	ENST00000301831.4	-	5	987	c.525G>A	c.(523-525)atG>atA	p.M175I	ULK4_ENST00000420927.1_Missense_Mutation_p.M175I	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	175	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTCTACTTTTCATGCTTTTCT	0.423													22	185					0	0	0	0	T	41973352	C	T	41973352	3	4	184	1	0	0	0	0	1	0	0	0	17074	826	29	2	3434	2	ULK4	3	41973352	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3327926	41973352	156049078	111	32223											
QARS	5859	broad.mit.edu	37	chr3	49136368	49136368	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgggtgcaaagggaacctGatggaagcctttggtctcat	11	10	13	7	0	1	1	1	1	1	0	2	3	1	3	2	4	3	1	2	4	4	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:49136368G>C	ENST00000306125.6	-	19	2150	c.1813C>G	c.(1813-1815)Cag>Gag	p.Q605E	QARS_ENST00000414533.1_Missense_Mutation_p.Q594E			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	605					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AAGGGAACCTGATGGAAGCCT	0.517													12	50					0	0	0	0	C	49136368	G	C	49136368	3	2	184	1	0	0	0	0	1	0	0	0	12953	1299	45	2	538	2	QARS	3	49136368	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	7163016	49136368	148886062	112	32224											
MON1A	84315	broad.mit.edu	37	chr3	49947847	49947847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacacgggcgtccaggcctCgccctcgcgaaaggacgagg	8	3	15	15	6	0	0	0	0	0	0	3	3	1	1	3	4	0	1	3	4	1	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:49947847C>T	ENST00000417270.1	-	5	1801	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	MON1A_ENST00000296473.3_Missense_Mutation_p.E459K|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000455683.2_Missense_Mutation_p.E297K			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	362							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTCCAGGCCTCGCCCTCGCGA	0.597													6	44					0	0	0	0	T	49947847	C	T	49947847	3	4	184	1	0	0	0	0	1	0	0	0	9768	893	31	1	595	1	MON1A	3	49947847	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	811479	49947847	148074583	113	32225											
HEMK1	51409	broad.mit.edu	37	chr3	50608743	50608743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtgagtacatcgtggctCatgtccttggagccaaaaca	11	9	10	11	1	1	1	1	1	0	0	3	2	2	2	3	2	3	2	3	2	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:50608743C>T	ENST00000232854.4	+	2	760	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	HEMK1_ENST00000455834.1_Missense_Mutation_p.H70Y|HEMK1_ENST00000434410.1_Missense_Mutation_p.H70Y	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	70					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		CATCGTGGCTCATGTCCTTGG	0.522													5	39					0	0	0	0	T	50608743	C	T	50608743	3	4	184	1	0	0	0	0	1	0	0	0	7101	826	29	2	210	2	HEMK1	3	50608743	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	660896	50608743	147413687	114	32226											
PCBP4	57060	broad.mit.edu	37	chr3	51992917	51992917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgatcttgatatgtgcccctGacatctgccggatctcgctg	6	12	10	13	3	3	2	0	2	3	0	4	4	3	3	3	1	2	1	3	1	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:51992917G>A	ENST00000461554.1	-	13	1143	c.812C>T	c.(811-813)tCa>tTa	p.S271L	PCBP4_ENST00000395013.3_Missense_Mutation_p.S111L|PCBP4_ENST00000322099.7_Missense_Mutation_p.S271L|PCBP4_ENST00000428823.2_Missense_Mutation_p.S228L|PCBP4_ENST00000395014.2_Missense_Mutation_p.S292L|PCBP4_ENST00000484633.1_Missense_Mutation_p.S228L|PCBP4_ENST00000355852.2_Missense_Mutation_p.S271L|PCBP4_ENST00000471622.1_Missense_Mutation_p.S271L	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	271	KH 3.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGTGCCCCTGACATCTGCCG	0.612													21	95					0	0	0	0	A	51992917	G	A	51992917	3	1	184	1	0	0	0	0	1	0	0	0	11574	1294	45	2	407	2	PCBP4	3	51992917	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1384174	51992917	146029513	115	32227											
DUSP7	1849	broad.mit.edu	37	chr3	52087966	52087966	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcacctaccaatgaagctGatggcctcagggaagaactg	13	6	11	11	0	1	3	1	2	0	1	1	4	1	4	3	2	4	2	3	2	5	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:52087966G>C	ENST00000495880.1	-	2	1125	c.942C>G	c.(940-942)atC>atG	p.I314M	DUSP7_ENST00000296483.6_Missense_Mutation_p.I263M			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	314	Tyrosine-protein phosphatase.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAATGAAGCTGATGGCCTCAG	0.612													11	62					0	0	0	0	C	52087966	G	C	52087966	3	2	184	1	0	0	0	0	1	0	0	0	4866	1280	45	2	325	2	DUSP7	3	52087966	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	95049	52087966	145934464	116	32228											
CACNA1D	776	broad.mit.edu	37	chr3	53531326	53531326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcccaaactatgagcacctCtgcacccccacctgtaggat	10	8	7	16	0	1	1	0	1	1	0	1	2	1	2	5	1	4	3	5	1	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:53531326C>G	ENST00000288139.3	+	2	333	c.215C>G	c.(214-216)tCt>tGt	p.S72C	CACNA1D_ENST00000350061.5_Missense_Mutation_p.S72C|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S72C	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	72					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATGAGCACCTCTGCACCCCCA	0.547													4	74					0	0	0	0	G	53531326	C	G	53531326	3	3	184	1	0	0	0	0	1	0	0	0	2566	913	32	2	221	2	CACNA1D	3	53531326	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1443360	53531326	144491104	117	32229											
ERC2	26059	broad.mit.edu	37	chr3	56173588	56173588	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggcagtaagtgactctttGagcacttcaatgtgttgctt	8	16	10	7	0	2	2	1	2	1	0	2	2	2	2	0	1	2	5	0	1	2	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:56173588G>C	ENST00000288221.6	-	6	1677	c.1422C>G	c.(1420-1422)ctC>ctG	p.L474L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	474						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTGACTCTTTGAGCACTTCAA	0.428													11	48					0	0	0	0	C	56173588	G	C	56173588	2	2	184	1	0	0	0	0	0	0	0	1	5249	1277	45	2		2	ERC2	3	56173588	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2642262	56173588	141848842	118	32230											
EPHA3	2042	broad.mit.edu	37	chr3	89259517	89259517	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacggtacccatggactccCagtccctggtggaggttaga	9	8	12	12	1	0	1	0	0	0	1	2	3	2	3	3	5	1	2	3	5	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:89259517C>T	ENST00000336596.2	+	3	886	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	EPHA3_ENST00000452448.2_Nonsense_Mutation_p.Q221*|EPHA3_ENST00000494014.1_Nonsense_Mutation_p.Q221*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	221	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CATGGACTCCCAGTCCCTGGT	0.478										TSP Lung(6;0.00050)			18	137					0	0	0	0	T	89259517	C	T	89259517	4	4	184	1	0	0	0	0	0	1	0	0	5206	595	21	4	671	4	EPHA3	3	89259517	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	33085929	89259517	108762913	119	32231											
DIRC2	84925	broad.mit.edu	37	chr3	122545833	122545833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttgttgttccagctccCaatgggacatcacctcttct	7	13	6	15	0	3	0	1	0	2	0	5	1	5	1	4	1	1	3	4	1	1	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:122545833C>T	ENST00000261038.5	+	3	1022	c.624C>T	c.(622-624)ccC>ccT	p.P208P		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	208					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TTCCAGCTCCCAATGGGACAT	0.458													22	125					0	0	0	0	T	122545833	C	T	122545833	2	4	184	1	0	0	0	0	0	0	0	1	4571	581	21	4		4	DIRC2	3	122545833	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	33286316	122545833	75476597	120	32232											
MYLK	4638	broad.mit.edu	37	chr3	123419491	123419491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggctgtgcaccttcctctCttcctcagacacagtctttg	5	13	9	14	0	3	1	1	0	2	1	6	1	5	1	3	2	1	2	3	2	0	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:123419491C>T	ENST00000360772.3	-	19	3202	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	MYLK_ENST00000360304.3_Missense_Mutation_p.E942K|MYLK_ENST00000359169.1_Missense_Mutation_p.E942K|MYLK_ENST00000346322.5_Missense_Mutation_p.E873K|MYLK_ENST00000475616.1_Missense_Mutation_p.E942K			Q15746	MYLK_HUMAN	myosin light chain kinase	942	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACCTTCCTCTCTTCCTCAGAC	0.587													11	70					0	0	0	0	T	123419491	C	T	123419491	3	4	184	1	0	0	0	0	1	0	0	0	10126	922	32	2	2988	2	MYLK	3	123419491	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	873658	123419491	74602939	121	32233											
TMCC1	23023	broad.mit.edu	37	chr3	129389903	129389903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggcaagcttcaagtattCagcaacgttgtcgtcccggg	8	11	12	10	3	2	0	2	0	0	0	4	0	3	0	1	2	3	6	1	2	4	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:129389903C>T	ENST00000393238.3	-	4	1121	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	TMCC1_ENST00000329333.5_Missense_Mutation_p.E82K|TMCC1_ENST00000432054.2_5'UTR|TMCC1_ENST00000426664.2_Missense_Mutation_p.E147K	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	261						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TTCAAGTATTCAGCAACGTTG	0.498													45	214					0	0	0	0	T	129389903	C	T	129389903	3	4	184	1	0	0	0	0	1	0	0	0	16086	835	29	2	1192	2	TMCC1	3	129389903	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	5970412	129389903	68632527	122	32234											
RAB6B	51560	broad.mit.edu	37	chr3	133553479	133553479	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagagccgacgccacacgtcGaaaaagctggaaagatgaag	16	4	12	9	4	0	3	0	1	0	2	1	6	0	4	2	1	2	1	2	1	5	1	rs147187493		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:133553479G>A	ENST00000285208.4	-	7	851	c.502C>T	c.(502-504)Cga>Tga	p.R168*	RAB6B_ENST00000543906.1_Nonsense_Mutation_p.R168*|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000486858.1_Nonsense_Mutation_p.R155*	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	168					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GCCACACGTCGAAAAAGCTGG	0.522													16	70					0	0	0	0	A	133553479	G	A	133553479	4	1	184	1	0	0	0	0	0	1	0	0	13034	1066	37	1	132	1	RAB6B	3	133553479	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4163576	133553479	64468951	123	32235											
A4GNT	51146	broad.mit.edu	37	chr3	137843367	137843367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaatctttgggggtgtaaGaaggatatgttcagacacct	13	12	11	5	0	2	2	1	0	1	2	2	3	2	3	1	3	0	2	1	3	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:137843367G>A	ENST00000236709.3	-	3	963	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	254					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	p.F254F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GGGGGTGTAAGAAGGATATGT	0.493													21	73					0	0	0	0	A	137843367	G	A	137843367	2	1	184	1	0	0	0	0	0	0	0	1	7	933	33	2		2	A4GNT	3	137843367	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4289888	137843367	60179063	124	32236											
CLSTN2	64084	broad.mit.edu	37	chr3	140277609	140277609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagacctgctgcccagtttGaaagtgccaggggagtgacc	9	7	15	10	0	0	3	0	2	0	1	0	5	0	4	4	3	3	2	4	3	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:140277609G>C	ENST00000458420.3	+	12	2141	c.1951G>C	c.(1951-1953)Gaa>Caa	p.E651Q		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	651					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGCCCAGTTTGAAAGTGCCAG	0.582										HNSCC(16;0.037)			8	50					0	0	0	0	C	140277609	G	C	140277609	3	2	184	1	0	0	0	0	1	0	0	0	3592	1291	45	2	1997	2	CLSTN2	3	140277609	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2434242	140277609	57744821	125	32237											
ATP1B3	483	broad.mit.edu	37	chr3	141626075	141626075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtaggtctgatccaacttCgtatgcagggtacattgaag	11	11	11	8	1	1	2	0	2	1	0	3	2	2	2	1	2	3	4	1	2	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:141626075C>T	ENST00000539728.1	+	4	556	c.263C>T	c.(262-264)tCg>tTg	p.S88L	ATP1B3_ENST00000462082.1_Intron|ATP1B3_ENST00000286371.3_Missense_Mutation_p.S102L			P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	102					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	p.S102L(1)		cervix(1)|endometrium(1)|lung(2)	4						GATCCAACTTCGTATGCAGGG	0.343													8	52					0	0	0	0	T	141626075	C	T	141626075	3	4	184	1	0	0	0	0	1	0	0	0	1138	893	31	1	315	1	ATP1B3	3	141626075	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1348466	141626075	56396355	126	32238											
PLOD2	5352	broad.mit.edu	37	chr3	145789109	145789109	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagtgtaactggtgcaatGaactcccggataaaatgaag	14	10	10	7	1	1	2	1	2	0	0	2	3	2	3	1	2	3	2	1	2	6	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:145789109G>A	ENST00000282903.5	-	18	2127	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	PLOD2_ENST00000461497.1_Silent_p.F310F|PLOD2_ENST00000494950.1_Silent_p.F595F|PLOD2_ENST00000360060.3_Silent_p.F629F|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	629	Fe2OG dioxygenase.				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CTGGTGCAATGAACTCCCGGA	0.418													9	77					0	0	0	0	A	145789109	G	A	145789109	2	1	184	1	0	0	0	0	0	0	0	1	12174	1281	45	2		2	PLOD2	3	145789109	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4163034	145789109	52233321	127	32239											
AADAC	13	broad.mit.edu	37	chr3	151545802	151545802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatatgatctcttaagagatGatggactcatgtatgtcacc	13	13	8	7	0	3	3	2	2	1	1	4	5	3	4	1	1	0	1	1	1	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:151545802G>A	ENST00000232892.6	+	5	1168	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	348					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTAAGAGATGATGGACTCAT	0.468													13	87					0	0	0	0	A	151545802	G	A	151545802	3	1	184	1	0	0	0	0	1	0	0	0	10	1290	45	2	1060	2	AADAC	3	151545802	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	5756693	151545802	46476628	128	32240											
MME	4311	broad.mit.edu	37	chr3	154860103	154860103	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgaacctacaaggagtccaGaaatgctttccgcaaggtga	13	7	10	11	2	0	2	0	1	0	1	2	4	2	3	4	2	3	2	4	2	5	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:154860103G>C	ENST00000460393.1	+	12	1292	c.1172G>C	c.(1171-1173)aGa>aCa	p.R391T	MME_ENST00000493237.1_Missense_Mutation_p.R391T|MME_ENST00000462745.1_Missense_Mutation_p.R391T|MME_ENST00000360490.2_Missense_Mutation_p.R391T|MME_ENST00000492661.1_Missense_Mutation_p.R391T	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	391					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AAGGAGTCCAGAAATGCTTTC	0.393													14	87					0	0	0	0	C	154860103	G	C	154860103	3	2	184	1	0	0	0	0	1	0	0	0	9714	942	33	2	1214	2	MME	3	154860103	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3314301	154860103	43162327	129	32241											
PLCH1	23007	broad.mit.edu	37	chr3	155199669	155199669	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accacaccctgattgtacttGagttttaaaggagaagcaag	14	10	9	8	0	0	3	0	2	0	1	0	4	0	3	2	1	2	3	2	1	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:155199669G>C	ENST00000460012.1	-	23	4413	c.4056C>G	c.(4054-4056)ctC>ctG	p.L1352L	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.L1352L|PLCH1_ENST00000340059.7_Silent_p.L1390L|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Silent_p.L1352L			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1390					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GATTGTACTTGAGTTTTAAAG	0.418													6	75					0	0	0	0	C	155199669	G	C	155199669	2	2	184	1	0	0	0	0	0	0	0	1	12109	1277	45	2		2	PLCH1	3	155199669	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	339566	155199669	42822761	130	32242											
MECOM	2122	broad.mit.edu	37	chr3	168834418	168834418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaaggaagacgtagtgctGaacatttgtccacagtcttt	11	14	9	7	1	1	2	0	1	1	1	2	3	2	3	1	1	2	2	1	1	4	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:168834418G>C	ENST00000464456.1	-	7	1878	c.678C>G	c.(676-678)ttC>ttG	p.F226L	MECOM_ENST00000392736.3_Missense_Mutation_p.F226L|MECOM_ENST00000460814.1_Missense_Mutation_p.F226L|MECOM_ENST00000472280.1_Missense_Mutation_p.F227L|MECOM_ENST00000264674.3_Missense_Mutation_p.F291L|MECOM_ENST00000494292.1_Missense_Mutation_p.F414L|MECOM_ENST00000468789.1_Missense_Mutation_p.F226L|MECOM_ENST00000433243.2_Missense_Mutation_p.F227L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACGTAGTGCTGAACATTTGTC	0.438													14	126					0	0	0	0	C	168834418	G	C	168834418	3	2	184	1	0	0	0	0	1	0	0	0	9491	1281	45	2	2517	2	MECOM	3	168834418	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	13634749	168834418	29188012	131	32243											
SAMD7	344658	broad.mit.edu	37	chr3	169644598	169644598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggggcagagatgtcgtcGactcaggaaaaatacaggga	13	6	15	7	2	1	1	1	0	0	1	3	5	1	3	0	4	1	1	0	4	3	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:169644598G>A	ENST00000428432.2	+	6	937	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	SAMD7_ENST00000335556.3_Missense_Mutation_p.R183Q	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	183										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGATGTCGTCGACTCAGGAAA	0.478													10	75					0	0	0	0	A	169644598	G	A	169644598	3	1	184	1	0	0	0	0	1	0	0	0	13909	1058	37	1	562	1	SAMD7	3	169644598	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	810180	169644598	28377832	132	32244											
KLHL24	54800	broad.mit.edu	37	chr3	183368194	183368194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaggatcttggggtgcGtgattccccagcaactaagc	10	8	13	10	1	1	2	0	1	1	1	2	4	2	3	2	3	4	1	2	3	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:183368194G>A	ENST00000454652.1	+	4	436	c.50G>A	c.(49-51)cGt>cAt	p.R17H	KLHL24_ENST00000242810.6_Missense_Mutation_p.R17H|KLHL24_ENST00000476808.1_Missense_Mutation_p.R17H			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	17						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CTTGGGGTGCGTGATTCCCCA	0.408													7	59					0	0	0	0	A	183368194	G	A	183368194	3	1	184	1	0	0	0	0	1	0	0	0	8431	1145	40	1	52	1	KLHL24	3	183368194	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	13723596	183368194	14654236	133	32245											
ECE2	9718	broad.mit.edu	37	chr3	183996310	183996310	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctctttctgccctctCgggattactacttaaacaga	8	13	8	12	1	3	1	0	0	3	1	4	2	3	2	1	2	4	1	1	2	4	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:183996310C>A	ENST00000402825.3	+	7	1135	c.1135C>A	c.(1135-1137)Cgg>Agg	p.R379R	ECE2_ENST00000357474.5_Silent_p.R307R|ECE2_ENST00000404464.3_Silent_p.R261R|ECE2_ENST00000359140.4_Silent_p.R232R|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	379	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGCCCTCTCGGGATTACTA	0.552													21	113					7.45023e-12	7.95329e-12	1	0	A	183996310	C	A	183996310	2	1	184	1	0	0	0	0	0	0	0	1	4926	875	31	3		3	ECE2	3	183996310	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	628116	183996310	14026120	134	32246											
PSMD2	5708	broad.mit.edu	37	chr3	184022098	184022098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcttttgcaggctaggCttggcttatgctggctcaaa	7	13	12	9	0	1	0	1	0	0	0	1	0	1	0	0	5	2	7	0	5	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:184022098C>T	ENST00000310118.4	+	12	2016	c.1458C>T	c.(1456-1458)ggC>ggT	p.G486G	PSMD2_ENST00000439383.1_Silent_p.G356G|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Silent_p.G327G	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	486					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GCAGGCTAGGCTTGGCTTATG	0.483													51	137					0	0	0	0	T	184022098	C	T	184022098	2	4	184	1	0	0	0	0	0	0	0	1	12777	784	28	4		4	PSMD2	3	184022098	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	25788	184022098	14000332	135	32247											
EIF4G1	1981	broad.mit.edu	37	chr3	184046444	184046444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaaatcttggaattggctGaggacatggaaattgacatc	14	11	11	5	0	1	3	0	3	1	0	2	6	1	6	0	4	0	1	0	4	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:184046444G>A	ENST00000342981.4	+	26	4396	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K	EIF4G1_ENST00000434061.2_Missense_Mutation_p.E1132K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E1164K|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E1327K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E1287K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E1131K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E1288K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E1334K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E1241K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E1240K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E1334K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E1163K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E1327K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E1334K	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1327	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAATTGGCTGAGGACATGGA	0.537													30	188					0	0	0	0	A	184046444	G	A	184046444	3	1	184	1	0	0	0	0	1	0	0	0	5074	1291	45	2	4077	2	EIF4G1	3	184046444	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	24346	184046444	13975986	136	32248											
ETV5	2119	broad.mit.edu	37	chr3	185823423	185823423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctttactaccttcagaatCgtgagccagatctgtgtcca	10	12	8	11	1	2	3	1	1	1	2	4	3	3	3	3	0	4	1	3	0	3	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:185823423C>T	ENST00000306376.5	-	3	370	c.124G>A	c.(124-126)Gat>Aat	p.D42N	ETV5_ENST00000434744.1_Missense_Mutation_p.D42N|ETV5_ENST00000537818.1_Missense_Mutation_p.D84N	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	42					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CCTTCAGAATCGTGAGCCAGA	0.478			T	"TMPRSS2, SCL45A3"	Prostate								9	106					0	0	0	0	T	185823423	C	T	185823423	3	4	184	1	0	0	0	0	1	0	0	0	5320	884	31	1	1452	1	ETV5	3	185823423	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1776979	185823423	12199007	137	32249											
KNG1	3827	broad.mit.edu	37	chr3	186450325	186450325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaccacctaccaagatttgCgtgggctgccccagagatat	11	8	9	13	1	0	2	0	0	0	2	0	3	0	2	5	1	4	1	5	1	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:186450325C>T	ENST00000265023.4	+	7	1004	c.792C>T	c.(790-792)tgC>tgT	p.C264C	KNG1_ENST00000447445.1_Silent_p.C228C|KNG1_ENST00000287611.2_Silent_p.C264C|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	264	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CCAAGATTTGCGTGGGCTGCC	0.488													21	127					0	0	0	0	T	186450325	C	T	186450325	2	4	184	1	0	0	0	0	0	0	0	1	8479	776	27	1		1	KNG1	3	186450325	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	626902	186450325	11572105	138	32250											
ATP13A4	84239	broad.mit.edu	37	chr3	193185238	193185238	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggcacagagctatccatCttgggtaacggagttttggt	9	11	13	8	1	1	1	0	0	1	1	2	2	2	2	1	4	2	4	1	4	2	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:193185238C>T	ENST00000342695.4	-	10	1303	c.981G>A	c.(979-981)aaG>aaA	p.K327K	ATP13A4_ENST00000295548.3_Silent_p.K327K|ATP13A4_ENST00000392443.3_Silent_p.K327K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	327					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGCTATCCATCTTGGGTAACG	0.478													15	137					0	0	0	0	T	193185238	C	T	193185238	2	4	184	1	0	0	0	0	0	0	0	1	1130	912	32	2		2	ATP13A4	3	193185238	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	6734913	193185238	4837192	139	32251											
APOD	347	broad.mit.edu	37	chr3	195306307	195306307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgaagaggccagccagtgcgGaaagcagcagcagcagcatc	13	2	14	12	2	0	1	0	0	0	1	1	3	0	2	2	2	7	5	2	2	2	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:195306307G>A	ENST00000343267.3	-	2	387	c.26C>T	c.(25-27)tCc>tTc	p.S9F		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	9					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AGCCAGTGCGGAAAGCAGCAG	0.577													6	55					0	0	0	0	A	195306307	G	A	195306307	3	1	184	1	0	0	0	0	1	0	0	0	803	1174	41	2	559	2	APOD	3	195306307	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2121069	195306307	2716123	140	32252											
MUC4	4585	broad.mit.edu	37	chr3	195511937	195511937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagagaggtggcgtgacCtgtggatgctgaggaagtgt	10	8	19	4	1	0	3	0	2	0	1	0	7	0	6	1	5	1	1	1	5	2	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:195511937C>T	ENST00000463781.3	-	2	6973	c.6514G>A	c.(6514-6516)Ggt>Agt	p.G2172S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	951					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCTGTGGATGCT	0.577													2	0					0	0	0	0	T	195511937	C	T	195511937	3	4	184	1	0	0	0	0	1	0	0	0	10048	681	24	4		4	MUC4	3	195511937	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	205630	195511937	2510493	141	32253											
WDR53	348793	broad.mit.edu	37	chr3	196288262	196288262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccgtgagatctccgccctCtgctccagaagccagcagcc	8	6	10	17	2	2	2	0	1	2	2	4	3	3	2	6	0	5	2	6	0	1	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:196288262C>G	ENST00000332629.5	-	3	652	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	29										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TCTCCGCCCTCTGCTCCAGAA	0.542													7	38					0	0	0	0	G	196288262	C	G	196288262	3	3	184	1	0	0	0	0	1	0	0	0	17401	922	32	2	999	2	WDR53	3	196288262	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	776325	196288262	1734168	142	32254											
WDR53	348793	broad.mit.edu	37	chr3	196288299	196288299	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcccttctttacttgcattCaggcagaggacaggagaaga	12	9	11	9	0	2	3	1	0	1	3	2	5	2	4	1	3	3	2	1	3	2	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:196288299C>G	ENST00000332629.5	-	3	615	c.48G>C	c.(46-48)ctG>ctC	p.L16L	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	16										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TACTTGCATTCAGGCAGAGGA	0.532													9	45					0	0	0	0	G	196288299	C	G	196288299	2	3	184	1	0	0	0	0	0	0	0	1	17401	813	29	2		2	WDR53	3	196288299	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	37	196288299	1734131	143	32255											
PAK2	5062	broad.mit.edu	37	chr3	196534686	196534686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaattgaccctgttcctGcaccagttggtgattcacat	8	14	8	11	0	1	2	1	2	0	0	2	2	2	2	3	1	1	4	3	1	1	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:196534686G>A	ENST00000327134.3	+	7	932	c.610G>A	c.(610-612)Gca>Aca	p.A204T		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	204					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCCTGTTCCTGCACCAGTTGG	0.393													8	90					0	0	0	0	A	196534686	G	A	196534686	3	1	184	1	0	0	0	0	1	0	0	0	11472	1319	46	4	632	4	PAK2	3	196534686	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	246387	196534686	1487744	144	32256											
SENP5	205564	broad.mit.edu	37	chr3	196626904	196626904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatggacgacctggcgactCtggatggtcagaactggctg	9	9	14	9	2	2	1	1	0	1	1	2	5	2	3	1	5	1	1	1	5	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:196626904C>G	ENST00000323460.5	+	4	1978	c.1729C>G	c.(1729-1731)Ctg>Gtg	p.L577V	SENP5_ENST00000445299.2_Missense_Mutation_p.L577V|SENP5_ENST00000419026.1_Missense_Mutation_p.L67V	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	577	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CCTGGCGACTCTGGATGGTCA	0.383													13	70					0	0	0	0	G	196626904	C	G	196626904	3	3	184	1	0	0	0	0	1	0	0	0	14136	912	32	2	1739	2	SENP5	3	196626904	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	92218	196626904	1395526	145	32257											
FGFR3	2261	broad.mit.edu	37	chr4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atctgcccccacagagcgctCcccgcaccggcccatcctgc	6	5	8	22	3	1	1	0	0	1	1	3	1	3	1	7	1	3	2	7	1	0	0	rs121913483		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				4	16					0	0	0	0	G	1803568	C	G	1803568	3	3	184	1	0	0	0	0	1	0	0	0	5912	855	30	2	768	2	FGFR3	4	1803568	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08		1803568	189350708	146	32258											
TNIP2	79155	broad.mit.edu	37	chr4	2746559	2746559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccgggagatctccttcctCatcagctcgggctcgtgggg	5	9	14	13	3	3	1	2	0	1	1	7	2	4	1	3	4	2	2	3	4	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:2746559C>T	ENST00000510267.1	-	4	877	c.450G>A	c.(448-450)atG>atA	p.M150I	TNIP2_ENST00000315423.7_Missense_Mutation_p.M257I|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Intron	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	257						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCTCCTTCCTCATCAGCTCGG	0.612													19	72					0	0	0	0	T	2746559	C	T	2746559	3	4	184	1	0	0	0	0	1	0	0	0	16409	826	29	2	530	2	TNIP2	4	2746559	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	942991	2746559	188407717	147	32259											
LAP3	51056	broad.mit.edu	37	chr4	17583385	17583385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttcctcttgttttagatCtggaccacctctgaaggcag	8	15	8	10	0	3	2	0	1	3	1	4	3	4	3	3	2	0	2	3	2	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:17583385C>T	ENST00000226299.4	+	3	495	c.221C>T	c.(220-222)tCt>tTt	p.S74F	LAP3_ENST00000606142.1_Missense_Mutation_p.S43F	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	74					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGTTTTAGATCTGGACCACCT	0.418													12	74					0	0	0	0	T	17583385	C	T	17583385	3	4	184	1	0	0	0	0	1	0	0	0	8676	913	32	2	231	2	LAP3	4	17583385	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	14836826	17583385	173570891	148	32260											
GABRB1	2560	broad.mit.edu	37	chr4	47427752	47427752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggaatgagacgagtggctCggaagtgctcacgagcgtga	10	6	16	9	5	1	2	1	2	0	1	2	7	1	4	1	3	2	2	1	3	2	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:47427752C>T	ENST00000295454.3	+	9	1434	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L	GABRB1_ENST00000538619.1_Missense_Mutation_p.S311L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	381					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACGAGTGGCTCGGAAGTGCTC	0.597													10	59					0	0	0	0	T	47427752	C	T	47427752	3	4	184	1	0	0	0	0	1	0	0	0	6214	893	31	1	1176	1	GABRB1	4	47427752	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	29844367	47427752	143726524	149	32261											
CWH43	80157	broad.mit.edu	37	chr4	49034613	49034613	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaagatacccaattgtGaaatctgagcatcaccttct	12	13	6	10	0	4	3	2	2	2	1	4	3	4	3	2	0	2	1	2	0	4	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:49034613G>T	ENST00000226432.4	+	12	1722	c.1539G>T	c.(1537-1539)gtG>gtT	p.V513V	CWH43_ENST00000513409.1_Silent_p.V486V	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	513					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACCCAATTGTGAAATCTGAGC	0.468													38	205					2.40579e-17	2.58069e-17	1	0	T	49034613	G	T	49034613	2	4	184	1	0	0	0	0	0	0	0	1	4105	1277	45	2		2	CWH43	4	49034613	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1606861	49034613	142119663	150	32262											
AASDH	132949	broad.mit.edu	37	chr4	57244556	57244556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatttttccagtgaagtctGaagagcactaggtcattatg	11	14	10	6	0	2	3	1	2	1	1	3	3	3	3	1	1	1	2	1	1	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:57244556G>A	ENST00000205214.6	-	4	606	c.426C>T	c.(424-426)ttC>ttT	p.F142F	AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Silent_p.F142F|AASDH_ENST00000451613.1_Silent_p.F142F|AASDH_ENST00000602986.1_5'UTR|AASDH_ENST00000513376.1_Silent_p.F42F|AASDH_ENST00000510762.1_5'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	142					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AGTGAAGTCTGAAGAGCACTA	0.313													6	49					0	0	0	0	A	57244556	G	A	57244556	2	1	184	1	0	0	0	0	0	0	0	1	22	1281	45	2		2	AASDH	4	57244556	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	8209943	57244556	133909720	151	32263											
YTHDC1	91746	broad.mit.edu	37	chr4	69203024	69203024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcttcttccactccttcctCctcattctcagtgttgttcc	4	18	3	16	0	4	0	2	0	3	0	10	0	9	0	5	0	0	2	5	0	0	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:69203024C>T	ENST00000344157.4	-	4	939	c.604G>A	c.(604-606)Gag>Aag	p.E202K	YTHDC1_ENST00000355665.3_Missense_Mutation_p.E202K|YTHDC1_ENST00000579690.1_Missense_Mutation_p.E202K	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	202	Glu-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						actccttcctcctcATTCTCA	0.463													5	35					0	0	0	0	T	69203024	C	T	69203024	3	4	184	1	0	0	0	0	1	0	0	0	17592	864	30	2	1635	2	YTHDC1	4	69203024	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	11958468	69203024	121951252	152	32264											
FRAS1	80144	broad.mit.edu	37	chr4	79328882	79328882	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaagggcagcacctgcctGatgggaggacagctaccccc	10	5	13	13	0	0	2	0	2	0	0	0	4	0	4	4	3	4	3	4	3	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:79328882G>C	ENST00000264895.6	+	31	4635	c.4195G>C	c.(4195-4197)Gat>Cat	p.D1399H	FRAS1_ENST00000325942.6_Missense_Mutation_p.D1399H	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1398					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCACCTGCCTGATGGGAGGAC	0.587													8	56					0	0	0	0	C	79328882	G	C	79328882	3	2	184	1	0	0	0	0	1	0	0	0	6089	1290	45	2	4317	2	FRAS1	4	79328882	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	10125858	79328882	111825394	153	32265											
FRAS1	80144	broad.mit.edu	37	chr4	79461904	79461904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atatgaagtccctgaatctgGagatgcaagagttggcggta	12	10	13	6	1	1	4	0	2	1	2	2	5	2	4	1	3	1	3	1	3	5	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:79461904G>A	ENST00000264895.6	+	74	12105	c.11665G>A	c.(11665-11667)Gag>Aag	p.E3889K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3884					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTGAATCTGGAGATGCAAGA	0.517													4	22					0	0	0	0	A	79461904	G	A	79461904	3	1	184	1	0	0	0	0	1	0	0	0	6089	1175	41	2	12034	2	FRAS1	4	79461904	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	133022	79461904	111692372	154	32266											
ABCG2	9429	broad.mit.edu	37	chr4	89052248	89052248	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttatccagacctaactcttGaatgaccctgttaatccgtt	10	15	5	11	1	1	3	0	2	1	1	3	3	3	3	4	0	1	2	4	0	4	6	rs1061017		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:89052248G>C	ENST00000237612.3	-	5	1041	c.496C>G	c.(496-498)Caa>Gaa	p.Q166E	ABCG2_ENST00000515655.1_Missense_Mutation_p.Q166E	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	166	ABC transporter.		Q -> E (in dbSNP:rs1061017).		cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CCTAACTCTTGAATGACCCTG	0.418													27	161					0	0	0	0	C	89052248	G	C	89052248	3	2	184	1	0	0	0	0	1	0	0	0	69	1299	45	2	1519	2	ABCG2	4	89052248	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	9590344	89052248	102102028	155	32267											
LEF1	51176	broad.mit.edu	37	chr4	108969898	108969898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgttgggaatgagcttCgttttccacctcaagaagga	10	11	11	9	2	1	2	1	1	0	1	3	4	2	4	2	2	2	4	2	2	3	4	rs148954807	by1000genomes	TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:108969898C>A	ENST00000379951.2	-	10	2279	c.1091G>T	c.(1090-1092)cGa>cTa	p.R364L	LEF1_ENST00000438313.2_3'UTR|LEF1_ENST00000265165.1_3'UTR|LEF1_ENST00000510624.1_3'UTR|LEF1_ENST00000503879.1_5'UTR	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	226					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GAATGAGCTTCGTTTTCCACC	0.453													13	52					4.36969e-10	4.63494e-10	1	0	A	108969898	C	A	108969898	3	1	184	1	0	0	0	0	1	0	0	0	8767	884	31	3	73	3	LEF1	4	108969898	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	19917650	108969898	82184378	156	32268											
LRIT3	345193	broad.mit.edu	37	chr4	110791623	110791623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcaccttttctactgaaaGagttgaaggagatgattctc	12	13	8	8	0	3	5	1	3	2	2	4	6	3	5	1	1	1	1	1	1	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:110791623G>A	ENST00000327908.3	+	4	1933	c.1169G>A	c.(1168-1170)aGa>aAa	p.R390K	LRIT3_ENST00000594814.1_Missense_Mutation_p.R573K|LRIT3_ENST00000379920.3_Missense_Mutation_p.R528K|LRIT3_ENST00000409621.2_Missense_Mutation_p.R390K			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	528						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TCTACTGAAAGAGTTGAAGGA	0.453													17	65					0	0	0	0	A	110791623	G	A	110791623	3	1	184	1	0	0	0	0	1	0	0	0	9013	942	33	2	1593	2	LRIT3	4	110791623	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1821725	110791623	80362653	157	32269											
KIAA1109	84162	broad.mit.edu	37	chr4	123161431	123161431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctctaaatcctcattgcatCgtccccttgatctggataca	9	13	5	14	1	3	1	1	1	2	0	6	2	5	2	4	1	2	1	4	1	3	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:123161431C>T	ENST00000264501.4	+	29	4967	c.4594C>T	c.(4594-4596)Cgt>Tgt	p.R1532C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R1532C|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R1532C			Q2LD37	K1109_HUMAN	KIAA1109	1532					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTCATTGCATCGTCCCCTTGA	0.383													15	77					0	0	0	0	T	123161431	C	T	123161431	3	4	184	1	0	0	0	0	1	0	0	0	8259	884	31	1	4700	1	KIAA1109	4	123161431	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	12369808	123161431	67992845	158	32270											
RNF150	57484	broad.mit.edu	37	chr4	142053860	142053860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtgtaccattcctccttctCggccacggtaaagtccaggc	7	10	10	14	2	1	0	0	0	1	0	5	0	4	0	5	4	1	2	5	4	3	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:142053860C>G	ENST00000306799.3	-	1	756	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	RNF150_ENST00000515673.1_Missense_Mutation_p.E35Q|RNF150_ENST00000507500.1_Missense_Mutation_p.E35Q|RNF150_ENST00000420921.2_Intron	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	35						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TCCTCCTTCTCGGCCACGGTA	0.647													8	44					0	0	0	0	G	142053860	C	G	142053860	3	3	184	1	0	0	0	0	1	0	0	0	13536	893	31	3	1241	3	RNF150	4	142053860	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	18892429	142053860	49100416	159	32271											
NR3C2	4306	broad.mit.edu	37	chr4	149357542	149357542	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgatctcaagggcgtgttCacacaacttagagtggaagg	13	9	12	7	1	2	2	2	1	1	1	3	3	2	3	0	3	1	1	0	3	5	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:149357542C>T	ENST00000355292.3	-	2	833	c.471G>A	c.(469-471)gtG>gtA	p.V157V	NR3C2_ENST00000342437.4_Silent_p.V157V|NR3C2_ENST00000512865.1_Silent_p.V157V|NR3C2_ENST00000358102.3_Silent_p.V157V|NR3C2_ENST00000344721.4_Silent_p.V157V|NR3C2_ENST00000511528.1_Silent_p.V157V			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	157	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	AGGGCGTGTTCACACAACTTA	0.448													16	132					0	0	0	0	T	149357542	C	T	149357542	2	4	184	1	0	0	0	0	0	0	0	1	10702	813	29	2		2	NR3C2	4	149357542	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	7303682	149357542	41796734	160	32272											
KIAA0922	23240	broad.mit.edu	37	chr4	154553947	154553947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaactgcaccctggagaacGgcgtgccttgtgtgattcag	9	10	12	10	2	1	2	1	1	0	1	1	3	1	2	2	2	4	1	2	2	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:154553947G>A	ENST00000409959.3	+	32	4334	c.4285G>A	c.(4285-4287)Ggc>Agc	p.G1429S	KIAA0922_ENST00000440693.1_Missense_Mutation_p.G1345S|KIAA0922_ENST00000409663.3_Missense_Mutation_p.G1428S	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1428						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCTGGAGAACGGCGTGCCTTG	0.532													11	51					0	0	0	0	A	154553947	G	A	154553947	3	1	184	1	0	0	0	0	1	0	0	0	8252	1116	39	1	4411	1	KIAA0922	4	154553947	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	5196405	154553947	36600329	161	32273											
FNIP2	57600	broad.mit.edu	37	chr4	159790180	159790180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgacaagggttttgcagagGacagaggcagcagaaacgac	14	5	14	8	1	0	4	0	1	0	3	0	6	0	5	0	3	3	4	0	3	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:159790180G>C	ENST00000264433.6	+	13	2467	c.2392G>C	c.(2392-2394)Gac>Cac	p.D798H	FNIP2_ENST00000379346.3_Missense_Mutation_p.D821H	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	798	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTTTGCAGAGGACAGAGGCAG	0.562													13	143					0	0	0	0	C	159790180	G	C	159790180	3	2	184	1	0	0	0	0	1	0	0	0	6021	1174	41	2	2442	2	FNIP2	4	159790180	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	5236233	159790180	31364096	162	32274											
CDH10	1008	broad.mit.edu	37	chr5	24537725	24537725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taataaaaagagtaccagctCcatctccagataagatatat	18	10	5	8	0	1	3	0	0	1	3	3	3	2	3	3	0	2	2	3	0	8	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:24537725C>A	ENST00000264463.4	-	3	797	c.290G>T	c.(289-291)gGa>gTa	p.G97V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	97	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGTACCAGCTCCATCTCCAGA	0.363										HNSCC(23;0.051)			9	58					7.48243e-07	7.82415e-07	1	0	A	24537725	C	A	24537725	3	1	184	1	0	0	0	0	1	0	0	0	3125	855	30	2	2116	2	CDH10	5	24537725	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08		24537725	156377535	163	32275											
RXFP3	51289	broad.mit.edu	37	chr5	33938124	33938124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactaccaagccggagcacGaggatcaggggctgcaggcc	10	3	14	14	2	1	0	1	0	0	0	1	3	1	2	4	5	4	3	4	5	2	1	rs138975968		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:33938124G>A	ENST00000330120.3	+	1	1634	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	427						integral to plasma membrane	N-formyl peptide receptor activity	p.E427*(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCCGGAGCACGAGGATCAGGG	0.706													6	23					0	0	0	0	A	33938124	G	A	33938124	3	1	184	1	0	0	0	0	1	0	0	0	13846	1059	37	1	1281	1	RXFP3	5	33938124	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	9400399	33938124	146977136	164	32276											
LMBRD2	92255	broad.mit.edu	37	chr5	36122457	36122457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggtgtgaacaaactgatGagtagcactagtttcatttt	14	13	9	5	0	1	3	1	3	0	0	1	3	1	3	0	1	3	3	0	1	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:36122457G>A	ENST00000296603.4	-	9	1507	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	349						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACAAACTGATGAGTAGCACTA	0.333													10	41					0	0	0	0	A	36122457	G	A	36122457	3	1	184	1	0	0	0	0	1	0	0	0	8898	1290	45	2	1082	2	LMBRD2	5	36122457	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2184333	36122457	144792803	165	32277											
GDNF	2668	broad.mit.edu	37	chr5	37815932	37815932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattttgtcgtacgttgtctCagctgcatcgcaagagccgc	7	13	10	11	4	1	1	1	0	1	1	4	1	1	1	1	0	4	5	1	0	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:37815932C>G	ENST00000326524.2	-	3	656	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	GDNF_ENST00000344622.4_Missense_Mutation_p.E127Q|GDNF_ENST00000515058.1_Missense_Mutation_p.E127Q|GDNF_ENST00000427982.1_Missense_Mutation_p.E170Q|GDNF_ENST00000381826.4_Missense_Mutation_p.E144Q	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	153					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					TACGTTGTCTCAGCTGCATCG	0.443													10	86					0	0	0	0	G	37815932	C	G	37815932	3	3	184	1	0	0	0	0	1	0	0	0	6373	835	29	2	181	2	GDNF	5	37815932	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1693475	37815932	143099328	166	32278											
OSMR	9180	broad.mit.edu	37	chr5	38883988	38883988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaagataagctggtggaaGaaggcaccaatgttaccatt	15	9	10	7	0	0	2	0	0	0	2	0	3	0	3	2	3	2	3	2	3	7	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:38883988G>A	ENST00000274276.3	+	5	880	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	OSMR_ENST00000502536.1_Missense_Mutation_p.E160K	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	160					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)					GCTGGTGGAAGAAGGCACCAA	0.363													8	90					0	0	0	0	A	38883988	G	A	38883988	3	1	184	1	0	0	0	0	1	0	0	0	11363	943	33	2	492	2	OSMR	5	38883988	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1068056	38883988	142031272	167	32279											
PARP8	79668	broad.mit.edu	37	chr5	50091252	50091252	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcttctcagcttgctGtgcgtaaatattttcatctt	7	19	5	10	1	5	0	3	0	3	0	6	0	5	0	0	0	3	3	0	0	3	8			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:50091252G>A	ENST00000281631.5	+	12	1586		c.e12+1		PARP8_ENST00000511363.2_Splice_Site|PARP8_ENST00000514067.2_Splice_Site|PARP8_ENST00000503750.2_Splice_Site|PARP8_ENST00000505697.2_Splice_Site|PARP8_ENST00000514342.2_Splice_Site|PARP8_ENST00000505554.1_Splice_Site	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8							intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCAGCTTGCTGTGCGTAAATA	0.393													10	53					0	0	0	0	A	50091252	G	A	50091252	5	1	184	1	0	0	0	0	0	0	1	0	11536	1391	48	4	1475	4	PARP8	5	50091252	Splice_Site	SNP	G	TCGA-CR-6481-01A-11D-1870-08	11207264	50091252	130824008	168	32280											
MAST4	375449	broad.mit.edu	37	chr5	66458527	66458527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgaacagatccctgtcatCgggtgagagcctcccaggtt	8	10	11	12	1	1	3	1	2	0	2	4	4	3	3	3	2	2	1	3	2	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:66458527C>T	ENST00000404260.3	+	28	4195	c.3887C>T	c.(3886-3888)tCg>tTg	p.S1296L	MAST4_ENST00000403625.2_Missense_Mutation_p.S1293L|MAST4_ENST00000261569.7_Missense_Mutation_p.S1099L|MAST4_ENST00000405643.1_Missense_Mutation_p.S1114L|MAST4_ENST00000403666.1_Missense_Mutation_p.S1104L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1296	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCCTGTCATCGGGTGAGAGC	0.542													11	86					0	0	0	0	T	66458527	C	T	66458527	3	4	184	1	0	0	0	0	1	0	0	0	9396	893	31	1	4118	1	MAST4	5	66458527	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	16367275	66458527	114456733	169	32281											
MAST4	375449	broad.mit.edu	37	chr5	66460113	66460113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggacaaagaggacaacctCtgccctgtgctgaagcccaa	13	5	11	12	0	1	2	0	1	1	1	1	5	1	4	3	2	4	1	3	2	4	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:66460113C>T	ENST00000404260.3	+	29	5423	c.5115C>T	c.(5113-5115)ctC>ctT	p.L1705L	MAST4_ENST00000403625.2_Silent_p.L1702L|MAST4_ENST00000261569.7_Silent_p.L1508L|MAST4_ENST00000405643.1_Silent_p.L1523L|MAST4_ENST00000403666.1_Silent_p.L1513L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1705						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGGACAACCTCTGCCCTGTGC	0.577													7	24					0	0	0	0	T	66460113	C	T	66460113	2	4	184	1	0	0	0	0	0	0	0	1	9396	900	32	2		2	MAST4	5	66460113	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1586	66460113	114455147	170	32282											
RAD17	5884	broad.mit.edu	37	chr5	68669684	68669684	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgggttgacccatcatttGatgattttctagagtgtagt	9	16	10	6	0	2	4	1	3	1	1	2	4	2	4	1	1	0	2	1	1	2	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:68669684G>C	ENST00000509734.1	+	4	748	c.70G>C	c.(70-72)Gat>Cat	p.D24H	RAD17_ENST00000354868.5_Missense_Mutation_p.D13H|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Missense_Mutation_p.D24H|RAD17_ENST00000361732.2_Missense_Mutation_p.D13H|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000354312.3_Missense_Mutation_p.D13H|RAD17_ENST00000345306.6_Missense_Mutation_p.D13H|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000305138.4_Missense_Mutation_p.D13H|RAD17_ENST00000521422.1_5'UTR			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	24					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CCCATCATTTGATGATTTTCT	0.358								Other conserved DNA damage response genes					13	73					0	0	0	0	C	68669684	G	C	68669684	3	2	184	1	0	0	0	0	1	0	0	0	13061	1290	45	2	89	2	RAD17	5	68669684	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2209571	68669684	112245576	171	32283											
RAD17	5884	broad.mit.edu	37	chr5	68669849	68669849	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaacagatttatggtttaGaaaattcaaaagaatatctg	18	13	7	3	0	2	4	1	0	1	4	2	4	2	4	0	1	1	1	0	1	10	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:68669849G>C	ENST00000509734.1	+	4	913	c.235G>C	c.(235-237)Gaa>Caa	p.E79Q	RAD17_ENST00000354868.5_Missense_Mutation_p.E68Q|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Missense_Mutation_p.E79Q|RAD17_ENST00000361732.2_Missense_Mutation_p.E68Q|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000354312.3_Missense_Mutation_p.E68Q|RAD17_ENST00000345306.6_Missense_Mutation_p.E68Q|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000305138.4_Missense_Mutation_p.E68Q|RAD17_ENST00000521422.1_5'UTR			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	79					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTATGGTTTAGAAAATTCAAA	0.333								Other conserved DNA damage response genes					8	77					0	0	0	0	C	68669849	G	C	68669849	3	2	184	1	0	0	0	0	1	0	0	0	13061	943	33	2	254	2	RAD17	5	68669849	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	165	68669849	112245411	172	32284											
GPR98	84059	broad.mit.edu	37	chr5	90041440	90041440	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatatttgaacctggtgagaGagaagctacaatagcagtaa	16	9	11	5	0	0	3	0	2	0	2	0	6	0	3	1	1	4	3	1	1	7	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:90041440G>C	ENST00000405460.2	+	52	10898	c.10802G>C	c.(10801-10803)aGa>aCa	p.R3601T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3601	Calx-beta 23.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTGGTGAGAGAGAAGCTACA	0.333													12	56					0	0	0	0	C	90041440	G	C	90041440	3	2	184	1	0	0	0	0	1	0	0	0	6771	942	33	2	11008	2	GPR98	5	90041440	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	21371591	90041440	90873820	173	32285											
TTC37	9652	broad.mit.edu	37	chr5	94849302	94849302	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttagttctgtagtgtgcctGaagagatccatggtgtcata	9	15	11	6	0	2	2	1	1	1	1	3	3	3	2	2	1	1	2	2	1	4	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:94849302G>C	ENST00000358746.2	-	27	3049	c.2751C>G	c.(2749-2751)ttC>ttG	p.F917L	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	917							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TAGTGTGCCTGAAGAGATCCA	0.338													11	116					0	0	0	0	C	94849302	G	C	94849302	3	2	184	1	0	0	0	0	1	0	0	0	16801	1281	45	2	2011	2	TTC37	5	94849302	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4807862	94849302	86065958	174	32286											
FBN2	2201	broad.mit.edu	37	chr5	127653955	127653955	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttataggatctgcacactCatcaatatctaggagaagca	14	11	8	8	0	4	1	2	0	2	1	4	3	4	2	0	2	2	3	0	2	6	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:127653955C>G	ENST00000508053.1	-	42	5577	c.4603G>C	c.(4603-4605)Gag>Cag	p.E1535Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E1535Q			P35556	FBN2_HUMAN	fibrillin 2	1535	EGF-like 26; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCTGCACACTCATCAATATCT	0.423													23	131					0	0	0	0	G	127653955	C	G	127653955	3	3	184	1	0	0	0	0	1	0	0	0	5748	835	29	2	4255	2	FBN2	5	127653955	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	32804653	127653955	53261305	175	32287											
RAPGEF6	51735	broad.mit.edu	37	chr5	130857157	130857157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactgactagaagacacatGagtcacctgtggatgagggt	13	8	13	7	0	1	6	1	3	0	3	1	7	1	7	1	2	0	0	1	2	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:130857157G>A	ENST00000509018.1	-	7	758	c.553C>T	c.(553-555)Cat>Tat	p.H185Y	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.H185Y|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.H185Y|FNIP1_ENST00000514667.1_Missense_Mutation_p.H235Y|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.H185Y|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.H185Y|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.H185Y	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	185					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GAAGACACATGAGTCACCTGT	0.383													8	59					0	0	0	0	A	130857157	G	A	130857157	3	1	184	1	0	0	0	0	1	0	0	0	13130	1290	45	2	4826	2	RAPGEF6	5	130857157	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3203202	130857157	50058103	176	32288											
SLC22A4	6583	broad.mit.edu	37	chr5	131679482	131679482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggaaaaaaacaagagactCaatggagacagaagaaaatc	22	4	10	5	0	1	4	1	0	0	4	2	7	1	5	0	2	1	0	0	2	8	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:131679482C>T	ENST00000200652.3	+	10	1784	c.1610C>T	c.(1609-1611)tCa>tTa	p.S537L	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	537					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ACAAGAGACTCAATGGAGACA	0.343													6	26					0	0	0	0	T	131679482	C	T	131679482	3	4	184	1	0	0	0	0	1	0	0	0	14544	838	29	2	1648	2	SLC22A4	5	131679482	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	822325	131679482	49235778	177	32289											
PKD2L2	27039	broad.mit.edu	37	chr5	137271509	137271509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcaaaacgcagagcagatGaaaaaatggaaagagaggct	20	5	11	5	1	1	4	1	1	0	3	1	6	1	5	0	2	2	3	0	2	6	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:137271509G>A	ENST00000508638.1	+	11	1447	c.1392G>A	c.(1390-1392)atG>atA	p.M464I	PKD2L2_ENST00000290431.5_Missense_Mutation_p.M565I|PKD2L2_ENST00000508883.1_Missense_Mutation_p.M565I|PKD2L2_ENST00000502810.1_Missense_Mutation_p.M543I|PKD2L2_ENST00000350250.4_Missense_Mutation_p.M531I	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	565						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAGAGCAGATGAAAAAATGGA	0.398													6	44					0	0	0	0	A	137271509	G	A	137271509	3	1	184	1	0	0	0	0	1	0	0	0	12040	1290	45	2	1745	2	PKD2L2	5	137271509	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	5592027	137271509	43643751	178	32290											
ETF1	2107	broad.mit.edu	37	chr5	137847221	137847221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggacttcagtagataactCaatagcttggttgaatccat	13	12	9	7	0	2	2	2	1	0	1	3	4	3	3	1	2	2	3	1	2	5	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:137847221C>G	ENST00000499810.2	-	7	1154	c.706G>C	c.(706-708)Gag>Cag	p.E236Q	ETF1_ENST00000503014.1_Missense_Mutation_p.E255Q|ETF1_ENST00000360541.5_Missense_Mutation_p.E269Q			P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	269					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTAGATAACTCAATAGCTTGG	0.303													8	41					0	0	0	0	G	137847221	C	G	137847221	3	3	184	1	0	0	0	0	1	0	0	0	5306	835	29	2	528	2	ETF1	5	137847221	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	575712	137847221	43068039	179	32291											
SLC4A9	83697	broad.mit.edu	37	chr5	139745140	139745140	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggataaggacaaggccaaaaGacagagacgacattgtaagc	18	4	12	7	1	0	2	0	0	0	2	0	6	0	4	1	3	1	1	1	3	5	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:139745140G>C	ENST00000230993.6	+	12	1794	c.1759G>C	c.(1759-1761)Gac>Cac	p.D587H	SLC4A9_ENST00000507527.1_Missense_Mutation_p.D587H|SLC4A9_ENST00000506545.1_Missense_Mutation_p.D563H|SLC4A9_ENST00000506757.2_Missense_Mutation_p.D563H|SLC4A9_ENST00000432095.2_Missense_Mutation_p.D552H	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	587	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCCAAAAGACAGAGACGA	0.507													7	20					0	0	0	0	C	139745140	G	C	139745140	3	2	184	1	0	0	0	0	1	0	0	0	14748	942	33	2	1733	2	SLC4A9	5	139745140	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1897919	139745140	41170120	180	32292											
PCDHA1	56147	broad.mit.edu	37	chr5	140167978	140167978	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtcaacgtgtacctgatCatcgccatctgcgcggtgtc	7	11	11	12	4	3	1	2	1	1	0	5	2	3	1	2	1	3	1	2	1	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:140167978C>T	ENST00000504120.2	+	1	2103	c.2103C>T	c.(2101-2103)atC>atT	p.I701I	PCDHA1_ENST00000378133.3_Silent_p.I701I|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACCTGATCATCGCCATCT	0.682													19	78					0	0	0	0	T	140167978	C	T	140167978	2	4	184	1	0	0	0	0	0	0	0	1	11590	816	29	2		2	PCDHA1	5	140167978	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	422838	140167978	40747282	181	32293											
PCDHA6	56142	broad.mit.edu	37	chr5	140208515	140208515	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatggggcaatttcatattCttttaatagccttgttgcag	10	16	9	6	0	2	0	1	0	1	0	2	1	2	0	1	2	2	3	1	2	5	8			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:140208515C>G	ENST00000529310.1	+	1	953	c.839C>G	c.(838-840)tCt>tGt	p.S280C	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S280C|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCATATTCTTTTAATAGC	0.388													20	92					0	0	0	0	G	140208515	C	G	140208515	3	3	184	1	0	0	0	0	1	0	0	0	11599	913	32	2	841	2	PCDHA6	5	140208515	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	40537	140208515	40706745	182	32294											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754586	140754586	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aatctagactatgaggactcGagtttttatgagctgggtgt	10	14	12	5	1	1	3	0	2	1	1	2	5	1	4	0	2	1	2	0	2	4	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:140754586G>C	ENST00000517434.1	+	1	936	c.936G>C	c.(934-936)tcG>tcC	p.S312S	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGGACTCGAGTTTTTATG	0.393													32	148					0	0	0	0	C	140754586	G	C	140754586	2	2	184	1	0	0	0	0	0	0	0	1	11629	1045	37	3		3	PCDHGA6	5	140754586	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	546071	140754586	40160674	183	32295											
FAT2	2196	broad.mit.edu	37	chr5	150897219	150897219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttcattggtgaatagaaGaatggcctgtggctggagtg	9	13	15	4	0	1	3	1	1	0	2	1	4	1	4	1	4	0	2	1	4	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:150897219G>A	ENST00000261800.5	-	19	11437	c.11425C>T	c.(11425-11427)Ctt>Ttt	p.L3809F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3809	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGAATAGAAGAATGGCCTGT	0.552													10	65					0	0	0	0	A	150897219	G	A	150897219	3	1	184	1	0	0	0	0	1	0	0	0	5735	942	33	2	1644	2	FAT2	5	150897219	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	10142633	150897219	30018041	184	32296											
KIF4B	285643	broad.mit.edu	37	chr5	154393878	154393878	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaattttggatcttctatgCccatctcgtgagaaagctca	11	13	8	9	1	4	1	1	1	3	1	5	4	4	2	1	1	2	1	1	1	3	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:154393878C>A	ENST00000435029.4	+	1	619	c.459C>A	c.(457-459)tgC>tgA	p.C153*		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	153	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATCTTCTATGCCCATCTCGTG	0.358													22	145					1.9806e-07	2.08749e-07	1	0	A	154393878	C	A	154393878	4	1	184	1	0	0	0	0	0	1	0	0	8355	747	26	4	461	4	KIF4B	5	154393878	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3496659	154393878	26521382	185	32297											
NKX2-5	1482	broad.mit.edu	37	chr5	172660137	172660137	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgcgcggcttcctccgcCgtcgcgcccggggccgctcc	1	5	14	21	9	0	0	0	0	0	0	4	0	3	0	6	3	0	3	6	3	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:172660137C>G	ENST00000329198.4	-	2	683	c.410G>C	c.(409-411)cGg>cCg	p.R137P	NKX2-5_ENST00000424406.2_3'UTR|NKX2-5_ENST00000521848.1_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	137					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTCCTCCGCCGTCGCGCCCG	0.692													3	11					0	0	0	0	G	172660137	C	G	172660137	3	3	184	1	0	0	0	0	1	0	0	0	10523	652	23	3	568	3	NKX2-5	5	172660137	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	18266259	172660137	8255123	186	32298											
NSD1	64324	broad.mit.edu	37	chr5	176673765	176673765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtaaaaaagtgaaaaatGatgactcgtcaaaagagatt	20	9	9	3	1	1	4	1	3	0	1	2	5	1	4	0	0	0	1	0	0	7	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:176673765G>A	ENST00000439151.2	+	10	4510	c.4465G>A	c.(4465-4467)Gat>Aat	p.D1489N	NSD1_ENST00000361032.4_Missense_Mutation_p.D1386N|NSD1_ENST00000347982.4_Missense_Mutation_p.D1220N|NSD1_ENST00000354179.4_Missense_Mutation_p.D1220N	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1489					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGTGAAAAATGATGACTCGTC	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	54					0	0	0	0	A	176673765	G	A	176673765	3	1	184	1	0	0	0	0	1	0	0	0	10740	1290	45	2	4499	2	NSD1	5	176673765	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4013628	176673765	4241495	187	32299											
TBC1D9B	23061	broad.mit.edu	37	chr5	179302008	179302008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggatcaccttgatgccctCatagaaaaagcagtcgacga	14	7	9	11	2	2	2	2	1	0	1	3	5	2	3	2	1	2	1	2	1	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:179302008C>T	ENST00000356834.3	-	12	2117	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E694K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	694	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGATGCCCTCATAGAAAAAG	0.622													10	49					0	0	0	0	T	179302008	C	T	179302008	3	4	184	1	0	0	0	0	1	0	0	0	15722	835	29	2	1716	2	TBC1D9B	5	179302008	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2628243	179302008	1613252	188	32300											
DSP	1832	broad.mit.edu	37	chr6	7559514	7559514	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ataaagccatcagtgtccctCgagtccgcagggccagctcc	9	7	10	15	2	1	0	1	0	0	0	5	1	4	0	5	1	2	2	5	1	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:7559514C>G	ENST00000379802.3	+	4	819	c.478C>G	c.(478-480)Cga>Gga	p.R160G	DSP_ENST00000418664.2_Missense_Mutation_p.R160G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	160	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.R160G(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAGTGTCCCTCGAGTCCGCAG	0.507													25	157					0	0	0	0	G	7559514	C	G	7559514	3	3	184	1	0	0	0	0	1	0	0	0	4817	876	31	3	492	3	DSP	6	7559514	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08		7559514	163555553	189	32301											
DSP	1832	broad.mit.edu	37	chr6	7566622	7566622	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcacagatacgcatgagtCaactggaagttaaagaaaaa	19	8	8	6	1	2	3	2	1	0	2	2	4	2	4	0	1	2	2	0	1	7	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:7566622C>T	ENST00000379802.3	+	8	1293	c.952C>T	c.(952-954)Caa>Taa	p.Q318*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q318*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	318	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACGCATGAGTCAACTGGAAGT	0.373													9	63					0	0	0	0	T	7566622	C	T	7566622	4	4	184	1	0	0	0	0	0	1	0	0	4817	827	29	2	982	2	DSP	6	7566622	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	7108	7566622	163548445	190	32302											
DSP	1832	broad.mit.edu	37	chr6	7570715	7570715	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggctctgtggaaccagctCtacatcaacatgaagagcct	11	10	9	11	0	3	2	1	1	2	1	3	3	3	3	2	2	5	2	2	2	4	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:7570715C>T	ENST00000379802.3	+	13	1961	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	DSP_ENST00000418664.2_Silent_p.L540L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	540	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGAACCAGCTCTACATCAACA	0.498													24	114					0	0	0	0	T	7570715	C	T	7570715	2	4	184	1	0	0	0	0	0	0	0	1	4817	900	32	2		2	DSP	6	7570715	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	4093	7570715	163544352	191	32303											
HIST1H2AC	8334	broad.mit.edu	37	chr6	26124697	26124697	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaacaagaagactcgcatCatcccgcgccacttgcagct	12	6	8	15	3	1	2	1	0	0	2	3	3	2	2	2	0	3	3	2	0	3	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:26124697C>T	ENST00000602637.1	+	1	267	c.237C>T	c.(235-237)atC>atT	p.I79I	HIST1H2AC_ENST00000377791.2_Silent_p.I79I			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	79					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						AGACTCGCATCATCCCGCGCC	0.642													21	109					0	0	0	0	T	26124697	C	T	26124697	2	4	184	1	0	0	0	0	0	0	0	1	7180	816	29	2		2	HIST1H2AC	6	26124697	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	18553982	26124697	144990370	192	32304											
BTN3A1	11119	broad.mit.edu	37	chr6	26413881	26413881	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcctgttttcagaattttGaccttggagcccacggccct	7	14	8	12	1	1	2	1	1	0	1	2	3	2	3	4	2	1	1	4	2	2	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:26413881G>C	ENST00000289361.6	+	10	1871	c.1503G>C	c.(1501-1503)ttG>ttC	p.L501F	BTN3A1_ENST00000414912.2_Missense_Mutation_p.L449F	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	501	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCAGAATTTTGACCTTGGAGC	0.463													18	121					0	0	0	0	C	26413881	G	C	26413881	3	2	184	1	0	0	0	0	1	0	0	0	1571	1281	45	2	1705	2	BTN3A1	6	26413881	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	289184	26413881	144701186	193	32305											
BTN2A1	11120	broad.mit.edu	37	chr6	26463541	26463541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catccggctggagtgcatatCtagagggtggtacccaaagc	10	8	13	10	1	1	1	0	0	1	1	2	2	2	2	2	4	3	3	2	4	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:26463541C>T	ENST00000429381.1	+	4	712	c.500C>T	c.(499-501)tCt>tTt	p.S167F	BTN2A1_ENST00000469185.1_Missense_Mutation_p.S167F|BTN2A1_ENST00000541522.1_Missense_Mutation_p.S106F|BTN2A1_ENST00000312541.5_Missense_Mutation_p.S167F			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	167					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GAGTGCATATCTAGAGGGTGG	0.587													9	74					0	0	0	0	T	26463541	C	T	26463541	3	4	184	1	0	0	0	0	1	0	0	0	1569	913	32	2	510	2	BTN2A1	6	26463541	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	49660	26463541	144651526	194	32306											
HIST1H3I	8354	broad.mit.edu	37	chr6	27839889	27839889	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctcccgtaccaagcgctGaaaaggtagcttccggatta	11	9	10	11	3	1	1	0	1	1	0	3	3	2	2	3	2	3	4	3	2	6	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:27839889G>A	ENST00000328488.2	-	1	210	c.205C>T	c.(205-207)Cag>Tag	p.Q69*		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	69					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCAAGCGCTGAAAAGGTAGC	0.637													32	92					0	0	0	0	A	27839889	G	A	27839889	4	1	184	1	0	0	0	0	0	1	0	0	7213	1299	45	2	209	2	HIST1H3I	6	27839889	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1376348	27839889	143275178	195	32307											
DDR1	780	broad.mit.edu	37	chr6	30856694	30856694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttactcagccaagtgccGctatgccctgggcatgcagg	7	11	11	12	1	1	0	1	0	0	0	1	0	1	0	3	2	5	3	3	2	3	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:30856694G>A	ENST00000324771.8	+	5	643	c.95G>A	c.(94-96)cGc>cAc	p.R32H	DDR1_ENST00000376567.2_Missense_Mutation_p.R32H|DDR1_ENST00000376570.4_Missense_Mutation_p.R32H|DDR1_ENST00000376568.3_Missense_Mutation_p.R32H|DDR1_ENST00000376569.3_Missense_Mutation_p.R32H|DDR1_ENST00000418800.2_Missense_Mutation_p.R32H|DDR1_ENST00000376575.3_Missense_Mutation_p.R32H|DDR1_ENST00000513240.1_Missense_Mutation_p.R32H|DDR1_ENST00000508312.1_Missense_Mutation_p.R50H|DDR1_ENST00000452441.1_Missense_Mutation_p.R32H|DDR1_ENST00000454612.2_Missense_Mutation_p.R32H|DDR1_ENST00000446312.1_Missense_Mutation_p.R32H			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	32	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GCCAAGTGCCGCTATGCCCTG	0.592													3	31					0	0	0	0	A	30856694	G	A	30856694	3	1	184	1	0	0	0	0	1	0	0	0	4368	1087	38	1	101	1	DDR1	6	30856694	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3016805	30856694	140258373	196	32308											
CDSN	1041	broad.mit.edu	37	chr6	31084503	31084503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggagccacccaccacctCgtagccaccataggatttgt	11	7	9	14	1	0	1	0	0	0	1	1	3	0	3	6	2	2	1	6	2	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:31084503C>T	ENST00000376288.2	-	2	915	c.889G>A	c.(889-891)Gag>Aag	p.E297K	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	297	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCCACCACCTCGTAGCCACCA	0.547													5	41					0	0	0	0	T	31084503	C	T	31084503	3	4	184	1	0	0	0	0	1	0	0	0	3208	893	31	1	704	1	CDSN	6	31084503	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	227809	31084503	140030564	197	32309											
HLA-B	3106	broad.mit.edu	37	chr6	31324665	31324665	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtccacgtagcccactGagatgaagcggggctccccg	7	7	13	14	4	0	2	0	2	0	1	3	3	2	2	4	2	2	2	4	2	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:31324665G>T	ENST00000412585.2	-	2	171	c.143C>A	c.(142-144)tCa>tAa	p.S48*		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GTAGCCCACTGAGATGAAGCG	0.697									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				8	24					5.18039e-06	5.38307e-06	1	0	T	31324665	G	T	31324665	4	4	184	1	0	0	0	0	0	1	0	0	7246	1294	45	2	969	2	HLA-B	6	31324665	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	240162	31324665	139790402	198	32310											
C6orf47	57827	broad.mit.edu	37	chr6	31627496	31627496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tagctgctcaacttggggctCctccttgcttggttcggaag	5	13	12	11	1	1	0	1	0	0	0	4	1	3	1	2	4	4	5	2	4	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:31627496C>T	ENST00000375911.1	-	1	1053	c.229G>A	c.(229-231)Gag>Aag	p.E77K	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	77										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						ACTTGGGGCTCCTCCTTGCTT	0.562													4	48					0	0	0	0	T	31627496	C	T	31627496	3	4	184	1	0	0	0	0	1	0	0	0	2385	864	30	2	659	2	C6orf47	6	31627496	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	302831	31627496	139487571	199	32311											
EHMT2	10919	broad.mit.edu	37	chr6	31856391	31856391	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccacctctccgtccacactCtcagtggccatgcacttgtg	6	10	7	18	1	2	0	1	0	2	0	5	0	3	0	5	1	1	1	5	1	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:31856391C>G	ENST00000395728.3	-	10	1520	c.1521G>C	c.(1519-1521)gaG>gaC	p.E507D	EHMT2_ENST00000375537.4_Missense_Mutation_p.E450D|EHMT2_ENST00000375530.4_Missense_Mutation_p.E416D|EHMT2_ENST00000375528.4_Missense_Mutation_p.E473D|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	450					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CGTCCACACTCTCAGTGGCCA	0.662													4	31					0	0	0	0	G	31856391	C	G	31856391	3	3	184	1	0	0	0	0	1	0	0	0	5020	912	32	2	2354	2	EHMT2	6	31856391	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	228895	31856391	139258676	200	32312											
TNXB	7148	broad.mit.edu	37	chr6	32050002	32050002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggtgtcaaactggccctCagggacagtccaggagaggt	11	6	15	9	0	2	1	2	0	0	1	3	4	3	2	2	5	1	0	2	5	2	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:32050002C>T	ENST00000375244.3	-	9	3748	c.3547G>A	c.(3547-3549)Gag>Aag	p.E1183K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1183K			P22105	TENX_HUMAN	tenascin XB	1270	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AACTGGCCCTCAGGGACAGTC	0.602													5	47					0	0	0	0	T	32050002	C	T	32050002	3	4	184	1	0	0	0	0	1	0	0	0	16440	835	29	2	11310	2	TNXB	6	32050002	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	193611	32050002	139065065	201	32313											
ITPR3	3710	broad.mit.edu	37	chr6	33660549	33660549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctatgacctcctgttcttCttcatcgtcatcatcattgt	6	18	5	12	1	7	1	4	1	3	0	9	1	8	1	2	0	0	1	2	0	1	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:33660549C>T	ENST00000374316.5	+	56	8563	c.7503C>T	c.(7501-7503)ttC>ttT	p.F2501F	ITPR3_ENST00000605930.1_Silent_p.F2501F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2501					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCCTGTTCTTCTTCATCGTCA	0.547													17	87					0	0	0	0	T	33660549	C	T	33660549	2	4	184	1	0	0	0	0	0	0	0	1	7975	912	32	2		2	ITPR3	6	33660549	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1610547	33660549	137454518	202	32314											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34839420	34839420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccccatcactctggccatGgaacatgttgtgctgaagag	10	10	10	11	0	2	2	1	1	1	1	3	3	3	3	3	2	2	2	3	2	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:34839420G>A	ENST00000192788.5	+	19	4212	c.4041G>A	c.(4039-4041)atG>atA	p.M1347I	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.M1347I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1347										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTCTGGCCATGGAACATGTTG	0.522													10	53					0	0	0	0	A	34839420	G	A	34839420	3	1	184	1	0	0	0	0	1	0	0	0	17064	1348	47	4	4115	4	UHRF1BP1	6	34839420	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1178871	34839420	136275647	203	32315											
MTCH1	23787	broad.mit.edu	37	chr6	36938202	36938202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcagttgttcacagccatGaggtcgccaactagcaggaa	11	7	11	12	2	1	1	1	1	0	0	2	2	1	2	3	2	3	4	3	2	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:36938202G>A	ENST00000373627.5	-	10	1126	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	MTCH1_ENST00000538808.1_Silent_p.L161L|MTCH1_ENST00000471737.1_5'UTR|MTCH1_ENST00000373616.5_Silent_p.L317L	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	334					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TCACAGCCATGAGGTCGCCAA	0.622													10	52					0	0	0	0	A	36938202	G	A	36938202	2	1	184	1	0	0	0	0	0	0	0	1	9983	1277	45	2		2	MTCH1	6	36938202	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2098782	36938202	134176865	204	32316											
PTK7	5754	broad.mit.edu	37	chr6	43098331	43098331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatgttccattgccagttCtcagcccagccacccccgag	7	8	8	18	1	1	0	1	0	1	0	3	1	2	0	7	0	3	2	7	0	0	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:43098331C>T	ENST00000230419.4	+	5	965	c.744C>T	c.(742-744)ttC>ttT	p.F248F	PTK7_ENST00000352931.2_Silent_p.F248F|PTK7_ENST00000349241.2_Silent_p.F248F|PTK7_ENST00000471863.1_Silent_p.F248F|PTK7_ENST00000345201.2_Silent_p.F248F|PTK7_ENST00000481273.1_Silent_p.F256F	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	248	Ig-like C2-type 3.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ATTGCCAGTTCTCAGCCCAGC	0.582													3	33					0	0	0	0	T	43098331	C	T	43098331	2	4	184	1	0	0	0	0	0	0	0	1	12845	912	32	2		2	PTK7	6	43098331	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	6160129	43098331	128016736	205	32317											
MUT	4594	broad.mit.edu	37	chr6	49415427	49415427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttcgcactgaagtattatCaattgccagaacttctacag	12	13	7	9	1	2	2	1	1	1	1	3	2	2	2	1	0	3	3	1	0	6	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:49415427C>T	ENST00000274813.3	-	8	1643	c.1516G>A	c.(1516-1518)Gat>Aat	p.D506N		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	506					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGTATTATCAATTGCCAGA	0.318													13	70					0	0	0	0	T	49415427	C	T	49415427	3	4	184	1	0	0	0	0	1	0	0	0	10061	826	29	2	760	2	MUT	6	49415427	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	6317096	49415427	121699640	206	32318											
EYS	346007	broad.mit.edu	37	chr6	66204659	66204659	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtttaaaagaacatgcAtcaagttcctggcagtattt	13	13	8	7	0	1	1	1	0	0	1	2	1	2	1	1	2	2	5	1	2	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:66204659A>G	ENST00000503581.1	-	4	1182	c.645T>C	c.(643-645)gaT>gaC	p.D215D	EYS_ENST00000370616.2_Silent_p.D215D|EYS_ENST00000370618.3_Silent_p.D215D|EYS_ENST00000342421.5_Silent_p.D215D|EYS_ENST00000393380.2_Silent_p.D215D|EYS_ENST00000370621.3_Silent_p.D215D	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	215	EGF-like 2.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAGAACATGCATCAAGTTCCT	0.388													3	21					0	0	0	0	G	66204659	A	G	66204659	2	3	184	1	0	0	0	0	0	0	0	1	5370	214	8	5		5	EYS	6	66204659	Silent	SNP	A	TCGA-CR-6481-01A-11D-1870-08	16789232	66204659	104910408	207	32319											
C6orf165	154313	broad.mit.edu	37	chr6	88144769	88144769	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacatttattccatattctCaggtaagcagggtcaatatt	14	14	6	7	0	2	0	2	0	1	0	4	0	3	0	1	2	2	2	1	2	6	8			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:88144769C>T	ENST00000507897.1	+	11	1575	c.1492C>T	c.(1492-1494)Cag>Tag	p.Q498*	C6ORF165_ENST00000369562.4_Nonsense_Mutation_p.Q498*			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	498										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TCCATATTCTCAGGTAAGCAG	0.284													6	56					0	0	0	0	T	88144769	C	T	88144769	4	4	184	1	0	0	0	0	0	1	0	0	2362	827	29	2	1530	2	C6orf165	6	88144769	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	21940110	88144769	82970298	208	32320											
MDN1	23195	broad.mit.edu	37	chr6	90472197	90472197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctgagcaaagagttcctCaaatgcctcccgtaagggta	11	10	10	10	1	2	2	1	1	1	1	4	2	4	2	3	1	2	4	3	1	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:90472197C>G	ENST00000369393.3	-	16	2312	c.2197G>C	c.(2197-2199)Gag>Cag	p.E733Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E733Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	733					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGAGTTCCTCAAATGCCTCC	0.423													4	75					0	0	0	0	G	90472197	C	G	90472197	3	3	184	1	0	0	0	0	1	0	0	0	9484	835	29	2	14941	2	MDN1	6	90472197	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2327428	90472197	80642870	209	32321											
FBXL4	26235	broad.mit.edu	37	chr6	99347183	99347183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacaagtcgtttaaggctGcataacttggcaatgtggtt	12	12	11	6	1	0	1	0	0	0	1	1	1	0	1	0	3	3	5	0	3	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:99347183G>A	ENST00000369244.2	-	7	1706	c.1278C>T	c.(1276-1278)tgC>tgT	p.C426C	FBXL4_ENST00000229971.1_Silent_p.C426C			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	426					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		GTTTAAGGCTGCATAACTTGG	0.378													14	78					0	0	0	0	A	99347183	G	A	99347183	2	1	184	1	0	0	0	0	0	0	0	1	5766	1311	46	4		4	FBXL4	6	99347183	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	8874986	99347183	71767884	210	32322											
AIM1	202	broad.mit.edu	37	chr6	106999740	106999740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttagatgggtagcctatGaaaatcctgacttcacagga	12	12	9	8	0	2	3	1	2	1	1	3	4	3	4	2	2	1	1	2	2	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:106999740G>A	ENST00000369066.3	+	12	4589	c.4102G>A	c.(4102-4104)Gaa>Aaa	p.E1368K	AIM1_ENST00000535438.1_Missense_Mutation_p.E187K|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1368	Beta/gamma crystallin 'Greek key' 8.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GGTAGCCTATGAAAATCCTGA	0.338													25	159					0	0	0	0	A	106999740	G	A	106999740	3	1	184	1	0	0	0	0	1	0	0	0	430	1291	45	2	4148	2	AIM1	6	106999740	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	7652557	106999740	64115327	211	32323											
FAM26D	221301	broad.mit.edu	37	chr6	116879267	116879267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatatttcagtacccactCttttatgcatgggtgatgac	11	14	8	8	0	2	3	1	2	1	1	2	3	2	3	1	1	2	2	1	1	4	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:116879267C>G	ENST00000368596.3	+	2	882	c.838C>G	c.(838-840)Ctt>Gtt	p.L280V	FAM26D_ENST00000405399.1_Missense_Mutation_p.L137V|FAM26D_ENST00000368597.2_Missense_Mutation_p.L94V|FAM26D_ENST00000416171.2_Missense_Mutation_p.L136V			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	280						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		AGTACCCACTCTTTTATGCAT	0.423													16	113					0	0	0	0	G	116879267	C	G	116879267	3	3	184	1	0	0	0	0	1	0	0	0	5596	913	32	2	282	2	FAM26D	6	116879267	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	9879527	116879267	54235800	212	32324											
ZUFSP	221302	broad.mit.edu	37	chr6	116988128	116988128	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgtagggtgttgtctttCttgttatctgaagttccata	7	18	9	7	0	3	1	0	1	3	0	4	1	4	1	1	1	0	4	1	1	4	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:116988128C>T	ENST00000368576.3	-	2	471	c.228G>A	c.(226-228)aaG>aaA	p.K76K	ZUFSP_ENST00000471919.1_Intron|ZUFSP_ENST00000368573.1_Silent_p.K76K	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	76						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TGTTGTCTTTCTTGTTATCTG	0.338													15	83					0	0	0	0	T	116988128	C	T	116988128	2	4	184	1	0	0	0	0	0	0	0	1	18337	912	32	2		2	ZUFSP	6	116988128	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	108861	116988128	54126939	213	32325											
EYA4	2070	broad.mit.edu	37	chr6	133783787	133783787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatgttgccagccatcaaGacagagagtggactttccca	11	9	11	10	0	1	3	1	1	0	2	2	5	2	4	3	1	2	1	3	1	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:133783787G>A	ENST00000367895.5	+	9	1073	c.609G>A	c.(607-609)aaG>aaA	p.K203K	EYA4_ENST00000355286.6_Silent_p.K180K|EYA4_ENST00000355167.3_Silent_p.K203K|EYA4_ENST00000525849.1_Silent_p.K180K|EYA4_ENST00000452339.2_Silent_p.K149K|EYA4_ENST00000431403.2_Silent_p.K203K|EYA4_ENST00000430974.2_Silent_p.K149K|EYA4_ENST00000531901.1_Silent_p.K203K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	203					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGCCATCAAGACAGAGAGTG	0.438													9	56					0	0	0	0	A	133783787	G	A	133783787	2	1	184	1	0	0	0	0	0	0	0	1	5369	933	33	2		2	EYA4	6	133783787	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	16795659	133783787	37331280	214	32326											
IFNGR1	3459	broad.mit.edu	37	chr6	137527279	137527279	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacattctactcaccatctcGgcatacagcaaattcttctg	11	12	4	14	1	5	0	1	0	4	0	6	0	5	0	1	1	3	2	1	1	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:137527279G>A	ENST00000367739.4	-	3	488	c.367C>T	c.(367-369)Cga>Tga	p.R123*	IFNGR1_ENST00000543628.1_Nonsense_Mutation_p.R95*|IFNGR1_ENST00000367735.2_Nonsense_Mutation_p.R113*	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	123					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TCACCATCTCGGCATACAGCA	0.348													14	76					0	0	0	0	A	137527279	G	A	137527279	4	1	184	1	0	0	0	0	0	1	0	0	7602	1124	39	1	1122	1	IFNGR1	6	137527279	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3743492	137527279	33587788	215	32327											
TNFAIP3	7128	broad.mit.edu	37	chr6	138202334	138202334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctggggcccaccggggtGagcctgcccccgaagacccc	5	3	14	19	2	0	2	0	1	0	1	0	3	0	2	8	4	2	0	8	4	1	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:138202334G>A	ENST00000237289.4	+	9	2317	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	751	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.E751K(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CCACCGGGGTGAGCCTGCCCC	0.647			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								5	64					0	0	0	0	A	138202334	G	A	138202334	3	1	184	1	0	0	0	0	1	0	0	0	16368	1291	45	2	2281	2	TNFAIP3	6	138202334	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	675055	138202334	32912733	216	32328											
PRPS1L1	221823	broad.mit.edu	37	chr7	18066763	18066763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctacaaggatagccaCacgatcattcacatctccca	13	9	5	14	1	5	0	3	0	2	0	6	2	5	1	2	1	2	0	2	1	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:18066763C>T	ENST00000506618.2	-	1	723	c.643G>A	c.(643-645)Gtg>Atg	p.V215M		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	215	Binding of phosphoribosylpyrophosphate (Potential).				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGGATAGCCACACGATCATTC	0.453													23	99					0	0	0	0	T	18066763	C	T	18066763	3	4	184	1	0	0	0	0	1	0	0	0	12659	478	17	4	317	4	PRPS1L1	7	18066763	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08		18066763	141071900	217	32329											
DNAH11	8701	broad.mit.edu	37	chr7	21781778	21781778	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagagatttatcaaacgtCttccaggtaccttgactgct	10	13	8	10	1	2	3	1	2	1	1	3	4	3	3	2	1	3	2	2	1	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:21781778C>T	ENST00000328843.6	+	50	8200	c.8169C>T	c.(8167-8169)gtC>gtT	p.V2723V	DNAH11_ENST00000409508.3_Silent_p.V2716V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2723	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATCAAACGTCTTCCAGGTAC	0.358									Kartagener syndrome				13	45					0	0	0	0	T	21781778	C	T	21781778	2	4	184	1	0	0	0	0	0	0	0	1	4636	900	32	2		2	DNAH11	7	21781778	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3715015	21781778	137356885	218	32330											
EPDR1	54749	broad.mit.edu	37	chr7	37989863	37989863	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccaggaaacctttacCataaactacagtgtgatatt	13	12	6	10	0	0	1	0	1	0	0	1	2	1	2	4	1	4	0	4	1	6	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:37989863C>A	ENST00000199448.4	+	3	919	c.540C>A	c.(538-540)acC>acA	p.T180T	EPDR1_ENST00000559325.1_Silent_p.T300T|EPDR1_ENST00000425345.1_Silent_p.T119T|EPDR1_ENST00000423717.1_3'UTR|EPDR1_ENST00000476620.1_Silent_p.T78T	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	180					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AAACCTTTACCATAAACTACA	0.428													4	41					0.00116845	0.00119178	1	0	A	37989863	C	A	37989863	2	1	184	1	0	0	0	0	0	0	0	1	5201	581	21	4		4	EPDR1	7	37989863	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	16208085	37989863	121148800	219	32331											
VPS41	27072	broad.mit.edu	37	chr7	38796440	38796440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaataaaaagcacattacctCtgaatcaaaatccattaata	21	10	2	8	0	2	1	1	1	1	0	3	1	3	1	2	0	2	1	2	0	10	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:38796440C>G	ENST00000310301.4	-	19	1747	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	VPS41_ENST00000395969.2_Missense_Mutation_p.E540Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	565					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CACATTACCTCTGAATCAAAA	0.269													3	20					0	0	0	0	G	38796440	C	G	38796440	3	3	184	1	0	0	0	0	1	0	0	0	17306	922	32	2	915	2	VPS41	7	38796440	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	806577	38796440	120342223	220	32332											
ZNF713	349075	broad.mit.edu	37	chr7	56007242	56007242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctataagtgtgatgaatgtgGaaaaagattcagccagagga	16	9	12	4	0	1	4	1	2	0	2	1	6	1	6	1	2	1	0	1	2	5	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:56007242G>A	ENST00000429591.2	+	4	874	c.836G>A	c.(835-837)gGa>gAa	p.G279E	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GATGAATGTGGAAAAAGATTC	0.458													8	52					0	0	0	0	A	56007242	G	A	56007242	3	1	184	1	0	0	0	0	1	0	0	0	18212	1174	41	2	850	2	ZNF713	7	56007242	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	17210802	56007242	103131421	221	32333											
PTPN12	5782	broad.mit.edu	37	chr7	77256781	77256781	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactcttcagaacacccctCagttttactaatccacttca	11	12	2	16	0	4	1	3	0	1	1	5	1	5	1	4	0	2	1	4	0	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:77256781C>T	ENST00000248594.6	+	13	2057	c.1785C>T	c.(1783-1785)ctC>ctT	p.L595L	PTPN12_ENST00000435495.2_Silent_p.L465L|PTPN12_ENST00000415482.2_Silent_p.L476L	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	595						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GAACACCCCTCAGTTTTACTA	0.403													19	160					0	0	0	0	T	77256781	C	T	77256781	2	4	184	1	0	0	0	0	0	0	0	1	12861	813	29	2		2	PTPN12	7	77256781	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	21249539	77256781	81881882	222	32334											
STEAP2	261729	broad.mit.edu	37	chr7	89856767	89856767	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagcctctgcttaccgatGagaaggtcagagagatattt	12	11	10	8	1	2	3	1	1	1	3	2	6	2	3	2	1	4	1	2	1	4	4	rs151250725		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:89856767G>C	ENST00000287908.3	+	3	1368	c.975G>C	c.(973-975)atG>atC	p.M325I	STEAP2_ENST00000402625.2_Missense_Mutation_p.M325I|STEAP2_ENST00000394632.1_Missense_Mutation_p.M325I|STEAP2_ENST00000394629.2_Missense_Mutation_p.M325I|STEAP2_ENST00000394626.1_Missense_Mutation_p.M325I|STEAP2_ENST00000394621.2_Missense_Mutation_p.M325I|STEAP2_ENST00000394622.2_Missense_Mutation_p.M325I	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	325	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					GCTTACCGATGAGAAGGTCAG	0.383													10	40					0	0	0	0	C	89856767	G	C	89856767	3	2	184	1	0	0	0	0	1	0	0	0	15368	1290	45	2	981	2	STEAP2	7	89856767	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	12599986	89856767	69281896	223	32335											
HEPACAM2	253012	broad.mit.edu	37	chr7	92838091	92838091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttggggggatgagaatcagCagaacaatcaaataggatgg	15	7	15	4	0	2	2	2	1	0	2	2	5	2	4	0	5	2	2	0	5	5	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:92838091C>T	ENST00000394468.2	-	4	891	c.814G>A	c.(814-816)Gct>Act	p.A272T	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.A260T|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.A260T|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.A295T	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	272	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGAGAATCAGCAGAACAATCA	0.433													14	78					0	0	0	0	T	92838091	C	T	92838091	3	4	184	1	0	0	0	0	1	0	0	0	7103	710	25	4	602	4	HEPACAM2	7	92838091	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2981324	92838091	66300572	224	32336											
ZNF655	79027	broad.mit.edu	37	chr7	99159525	99159525	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcagctccacctgttcctCaggtgcctgctcttccccgt	3	12	7	19	1	3	0	2	0	1	0	6	0	6	0	7	1	3	3	7	1	0	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:99159525C>T	ENST00000425063.1	+	3	253	c.151C>T	c.(151-153)Cag>Tag	p.Q51*	ZNF655_ENST00000357864.2_Intron|ZNF655_ENST00000493277.1_Intron|ZNF655_ENST00000394163.2_Intron|ZNF655_ENST00000424881.1_Intron|ZNF655_ENST00000320583.5_Nonsense_Mutation_p.Q51*|ZNF655_ENST00000252713.4_Intron|ZNF655_ENST00000454654.1_Nonsense_Mutation_p.Q51*|ZNF655_ENST00000449244.1_Nonsense_Mutation_p.Q51*|ZNF655_ENST00000440391.1_Intron			Q8N720	ZN655_HUMAN	zinc finger protein 655	3					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ACCTGTTCCTCAGGTGCCTGC	0.612													7	10					0	0	0	0	T	99159525	C	T	99159525	4	4	184	1	0	0	0	0	0	1	0	0	18163	827	29	2	157	2	ZNF655	7	99159525	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	6321434	99159525	59979138	225	32337											
ZAN	7455	broad.mit.edu	37	chr7	100344231	100344231	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtcctcctgagccccgtGagcctgtcctctggctgtct	2	12	11	16	1	2	2	0	2	2	0	5	2	5	2	6	1	2	2	6	1	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:100344231G>A	ENST00000542585.1	+	0	985				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGAGCCCCGTGAGCCTGTCCT	0.572													9	95					0	0	0	0	A	100344231	G	A	100344231	1	1	184	0	1	0	0	0	0	0	0	0	17609	1277	45	2		2	ZAN	7	100344231	RNA	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1184706	100344231	58794432	226	32338											
CUX1	1523	broad.mit.edu	37	chr7	101844841	101844841	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcgcccatgcccaccgtgtCcagctacccacctctcgcca	6	7	6	22	3	1	0	0	0	1	0	4	0	2	0	7	0	3	1	7	0	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:101844841C>G	ENST00000360264.3	+	18	2317	c.2297C>G	c.(2296-2298)tCc>tGc	p.S766C	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.S597C|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.S653C|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.S755C|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.S699C|CUX1_ENST00000549414.2_Missense_Mutation_p.S733C	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	755					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCCACCGTGTCCAGCTACCCA	0.647													21	110					0	0	0	0	G	101844841	C	G	101844841	3	3	184	1	0	0	0	0	1	0	0	0	4096	855	30	2	2401	2	CUX1	7	101844841	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1500610	101844841	57293822	227	32339											
NRCAM	4897	broad.mit.edu	37	chr7	107822288	107822288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatagccttgtaggtgtcctCggatgcttttcagaggtact	7	14	12	8	1	1	1	1	0	0	1	3	3	2	2	2	3	3	3	2	3	3	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:107822288C>T	ENST00000379028.3	-	24	3094	c.2624G>A	c.(2623-2625)cGa>cAa	p.R875Q	NRCAM_ENST00000413765.2_Missense_Mutation_p.R856Q|NRCAM_ENST00000379022.4_Missense_Mutation_p.R875Q|NRCAM_ENST00000379024.4_Missense_Mutation_p.R856Q|NRCAM_ENST00000351718.4_Missense_Mutation_p.R859Q|NRCAM_ENST00000425651.2_Missense_Mutation_p.R875Q			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	875	Fibronectin type-III 3.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TAGGTGTCCTCGGATGCTTTT	0.527													11	38					0	0	0	0	T	107822288	C	T	107822288	3	4	184	1	0	0	0	0	1	0	0	0	10715	884	31	1	1360	1	NRCAM	7	107822288	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	5977447	107822288	51316375	228	32340											
EXOC4	60412	broad.mit.edu	37	chr7	133041328	133041328	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgtggagaaccaaccaagGtaggtgggagtgtattttgt	11	11	14	5	0	0	1	0	0	0	1	0	3	0	2	2	4	2	2	2	4	5	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:133041328G>A	ENST00000253861.4	+	6	1036		c.e6+1		EXOC4_ENST00000393161.2_Splice_Site|EXOC4_ENST00000539845.1_Splice_Site	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4						vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACCAACCAAGGTAGGTGGGAG	0.448													3	32					0	0	0	0	A	133041328	G	A	133041328	5	1	184	1	0	0	0	0	0	0	1	0	5343	1275	44	4	1030	4	EXOC4	7	133041328	Splice_Site	SNP	G	TCGA-CR-6481-01A-11D-1870-08	25219040	133041328	26097335	229	32341											
WEE2	494551	broad.mit.edu	37	chr7	141422958	141422958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtttgcaagctgctatatCtgaaaacactaagtctggca	13	11	9	8	0	2	1	0	1	2	0	2	2	2	1	0	1	4	5	0	1	6	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:141422958C>T	ENST00000397541.2	+	6	1311	c.905C>T	c.(904-906)tCt>tTt	p.S302F	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	302	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GCTGCTATATCTGAAAACACT	0.418													20	105					0	0	0	0	T	141422958	C	T	141422958	3	4	184	1	0	0	0	0	1	0	0	0	17441	913	32	2	927	2	WEE2	7	141422958	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	8381630	141422958	17715705	230	32342											
MGAM	8972	broad.mit.edu	37	chr7	141765603	141765603	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggccttttaccccttctCaagaaaccacaataccattg	11	10	7	13	0	1	1	1	0	1	1	2	1	1	1	5	2	3	0	5	2	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:141765603C>G	ENST00000475668.2	+	40	4796	c.4742C>G	c.(4741-4743)tCa>tGa	p.S1581*	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1581	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACCCCTTCTCAAGAAACCAC	0.478													10	20					0	0	0	0	G	141765603	C	G	141765603	4	3	184	1	0	0	0	0	0	1	0	0	9610	841	29	2		2	MGAM	7	141765603	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	342645	141765603	17373060	231	32343											
MGAM	8972	broad.mit.edu	37	chr7	141793258	141793259	+	Frame_Shift_Ins	INS	-	-	GA																															gcagcaagaccctgtgcatgINSgagagtcagcagatcctccc																										TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:141793258_141793259insGA	ENST00000475668.2	+	60	7134_7135	c.7080_7081insGA	c.(7078-7083)atagagfs	p.IE2360fs	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1464					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCTGTGCATGGAGAGTCAGCA	0.574													2	4	---	---	---	---					GA	141793259	-	GA	141793258	7	5	184	1	0	1	1	0	0	0	0	0	9610	1363	47	0		0	MGAM	7	141793258	Frame_Shift_Ins	INS	-	TCGA-CR-6481-01A-11D-1870-08	27655	141793258	17345405	232	32344											
SMARCD3	6604	broad.mit.edu	37	chr7	150936782	150936782	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctggagaagcttagcatGaagtccctctggatcttgag	9	12	11	9	0	3	3	0	2	3	1	5	5	4	4	1	2	2	2	1	2	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:150936782G>C	ENST00000392811.2	-	12	1659	c.1185C>G	c.(1183-1185)ttC>ttG	p.F395L	SMARCD3_ENST00000262188.8_Missense_Mutation_p.F408L|SMARCD3_ENST00000356800.2_Missense_Mutation_p.F395L	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	408					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTTAGCATGAAGTCCCTCT	0.532													21	98					0	0	0	0	C	150936782	G	C	150936782	3	2	184	1	0	0	0	0	1	0	0	0	14867	1281	45	2	239	2	SMARCD3	7	150936782	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	9143524	150936782	8201881	233	32345											
CSMD1	64478	broad.mit.edu	37	chr8	2836257	2836257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattccatactcaaaactctCagggaagttctgttgcccgt	10	12	7	12	1	3	0	2	0	2	0	5	1	4	1	2	1	3	2	2	1	4	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:2836257C>T	ENST00000602557.1	-	56	9001	c.8446G>A	c.(8446-8448)Gag>Aag	p.E2816K	CSMD1_ENST00000602723.1_Missense_Mutation_p.E2758K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E2758K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2757K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2815K|CSMD1_ENST00000520002.1_Missense_Mutation_p.E2816K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2816	Sushi 20.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCAAAACTCTCAGGGAAGTTC	0.423													3	16					0	0	0	0	T	2836257	C	T	2836257	3	4	184	1	0	0	0	0	1	0	0	0	3976	835	29	2	2315	2	CSMD1	8	2836257	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08		2836257	143527765	234	32346											
RP1L1	94137	broad.mit.edu	37	chr8	10470341	10470341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccagtccccacctcttccGagctgccactctctctccct	4	10	6	21	1	3	0	0	0	3	0	7	1	5	0	7	1	2	1	7	1	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:10470341G>A	ENST00000382483.3	-	4	1490	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	423					intracellular signal transduction					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)		CACCTCTTCCGAGCTGCCACT	0.667													13	38					0	0	0	0	A	10470341	G	A	10470341	3	1	184	1	0	0	0	0	1	0	0	0	13618	1057	37	1	5939	1	RP1L1	8	10470341	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	7634084	10470341	135893681	235	32347											
SLC7A2	6542	broad.mit.edu	37	chr8	17419529	17419529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctggaggcctggagcctCgctctcctcgcgctgtttct	3	11	13	14	3	2	0	0	0	2	0	5	2	2	2	3	4	1	4	3	4	0	1	rs139462829		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:17419529C>T	ENST00000470360.1	+	12	1815	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L	SLC7A2_ENST00000522656.1_Silent_p.L527L|SLC7A2_ENST00000398090.3_Silent_p.L566L|SLC7A2_ENST00000494857.1_Silent_p.L527L|SLC7A2_ENST00000004531.10_Silent_p.L567L			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	527				A -> T (in Ref. 1; BAA06271).	cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCTGGAGCCTCGCTCTCCTCG	0.532													21	70					0	0	0	0	T	17419529	C	T	17419529	2	4	184	1	0	0	0	0	0	0	0	1	14785	871	31	1		1	SLC7A2	8	17419529	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	6949188	17419529	128944493	236	32348											
MTUS1	57509	broad.mit.edu	37	chr8	17613142	17613142	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactacagcagggtcagtttCataatcaaccaccatgtcat	14	10	6	11	0	4	0	4	0	0	0	4	0	4	0	2	1	4	2	2	1	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:17613142C>G	ENST00000381869.3	-	2	648	c.175G>C	c.(175-177)Gaa>Caa	p.E59Q	MTUS1_ENST00000262102.6_Missense_Mutation_p.E59Q|MTUS1_ENST00000519263.1_Missense_Mutation_p.E59Q|MTUS1_ENST00000381862.3_Missense_Mutation_p.E59Q	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	59						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGGTCAGTTTCATAATCAACC	0.403													28	168					0	0	0	0	G	17613142	C	G	17613142	3	3	184	1	0	0	0	0	1	0	0	0	10035	835	29	2	4012	2	MTUS1	8	17613142	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	193613	17613142	128750880	237	32349											
DOK2	9046	broad.mit.edu	37	chr8	21767244	21767244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcagtgagtcatgcggccGagagtaggggctatcaggcc	8	6	17	10	3	2	2	2	1	0	1	2	3	2	2	2	5	1	3	2	5	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:21767244G>A	ENST00000276420.4	-	5	1075	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	DOK2_ENST00000544659.1_Missense_Mutation_p.R119W	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	273	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCATGCGGCCGAGAGTAGGGG	0.682													6	59					0	0	0	0	A	21767244	G	A	21767244	3	1	184	1	0	0	0	0	1	0	0	0	4733	1057	37	1	425	1	DOK2	8	21767244	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4154102	21767244	124596778	238	32350											
LOXL2	4017	broad.mit.edu	37	chr8	23167319	23167319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtctgcgcggctgaggccGagaggcagttctcctccatg	5	8	15	13	4	2	2	0	1	2	1	4	3	3	2	3	4	1	3	3	4	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:23167319G>A	ENST00000389131.3	-	10	2111	c.1742C>T	c.(1741-1743)tCg>tTg	p.S581L		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	581	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GGCTGAGGCCGAGAGGCAGTT	0.647													5	25					0	0	0	0	A	23167319	G	A	23167319	3	1	184	1	0	0	0	0	1	0	0	0	8964	1059	37	1	602	1	LOXL2	8	23167319	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1400075	23167319	123196703	239	32351											
LOXL2	4017	broad.mit.edu	37	chr8	23174627	23174627	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tccgtgccaataccaggtctCctggaagaaccaacaaaaca	15	6	7	13	1	1	1	0	0	1	1	3	2	2	2	5	2	5	0	5	2	7	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:23174627C>G	ENST00000389131.3	-	9	1840	c.1470_splice	c.e9-1	p.E491_splice		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	491	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TACCAGGTCTCCTGGAAGAAC	0.488													33	125					0	0	0	0	G	23174627	C	G	23174627	5	3	184	1	0	0	0	0	0	0	1	0	8964	869	30	2	877	2	LOXL2	8	23174627	Splice_Site	SNP	C	TCGA-CR-6481-01A-11D-1870-08	7308	23174627	123189395	240	32352											
HTRA4	203100	broad.mit.edu	37	chr8	38840029	38840029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttccaggaaaggcgttttCaaataagaaatatctgggtc	13	12	9	7	1	2	1	1	0	1	1	4	2	3	2	1	3	0	1	1	3	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:38840029C>T	ENST00000302495.4	+	7	1227	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	376					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AAGGCGTTTTCAAATAAGAAA	0.423													6	56					0	0	0	0	T	38840029	C	T	38840029	3	4	184	1	0	0	0	0	1	0	0	0	7509	838	29	2	1153	2	HTRA4	8	38840029	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	15665402	38840029	107523993	241	32353											
SFRP1	6422	broad.mit.edu	37	chr8	41161008	41161008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggcacagagatgttcaatGatggcctcagatttcaactc	11	11	9	10	0	3	3	3	1	0	2	4	4	3	3	1	2	1	2	1	2	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:41161008G>C	ENST00000220772.3	-	2	931	c.594C>G	c.(592-594)atC>atG	p.I198M	SFRP1_ENST00000379845.3_Missense_Mutation_p.I62M	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	198	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GATGTTCAATGATGGCCTCAG	0.527													11	36					0	0	0	0	C	41161008	G	C	41161008	3	2	184	1	0	0	0	0	1	0	0	0	14248	1280	45	2	358	2	SFRP1	8	41161008	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2320979	41161008	105203014	242	32354											
ARFGEF1	10565	broad.mit.edu	37	chr8	68131668	68131668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattgtgtatcctcttacctCtgtctgttgttctggcaatt	6	19	7	9	0	4	0	0	0	4	0	5	0	5	0	2	1	1	4	2	1	4	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:68131668C>T	ENST00000262215.3	-	30	4725	c.4336G>A	c.(4336-4338)Gag>Aag	p.E1446K	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.E284K|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.E900K	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1446					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCTCTTACCTCTGTCTGTTGT	0.308													3	36					0	0	0	0	T	68131668	C	T	68131668	3	4	184	1	0	0	0	0	1	0	0	0	854	922	32	2	1253	2	ARFGEF1	8	68131668	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	26970660	68131668	78232354	243	32355											
PREX2	80243	broad.mit.edu	37	chr8	69058533	69058533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcattttgaacaacttcctCaacggctgaaaaatggagga	15	10	8	8	1	2	2	2	2	0	0	3	4	3	4	1	3	3	1	1	3	5	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:69058533C>G	ENST00000288368.4	+	34	4454	c.4177C>G	c.(4177-4179)Caa>Gaa	p.Q1393E		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1393					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACAACTTCCTCAACGGCTGAA	0.338													8	46					0	0	0	0	G	69058533	C	G	69058533	3	3	184	1	0	0	0	0	1	0	0	0	12557	827	29	2	4540	2	PREX2	8	69058533	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	926865	69058533	77305489	244	32356											
KCNB2	9312	broad.mit.edu	37	chr8	73850115	73850115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agataagcctagtgatgggaGagaccctttaagagaagagg	15	7	14	5	0	0	5	0	1	0	4	0	8	0	6	2	2	1	0	2	2	4	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:73850115G>A	ENST00000523207.1	+	3	3113	c.2525G>A	c.(2524-2526)aGa>aAa	p.R842K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	842					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGTGATGGGAGAGACCCTTTA	0.527													10	71					0	0	0	0	A	73850115	G	A	73850115	3	1	184	1	0	0	0	0	1	0	0	0	8066	942	33	2	2531	2	KCNB2	8	73850115	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4791582	73850115	72513907	245	32357											
ZNF704	619279	broad.mit.edu	37	chr8	81577163	81577163	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttctgttcggcttgaatCtgggatggggaaagtaggag	9	12	16	4	1	2	1	0	1	2	0	3	4	2	4	0	5	0	4	0	5	3	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:81577163C>G	ENST00000327835.3	-	6	1045	c.814G>C	c.(814-816)Gat>Cat	p.D272H		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	272						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CGGCTTGAATCTGGGATGGGG	0.577													19	107					0	0	0	0	G	81577163	C	G	81577163	3	3	184	1	0	0	0	0	1	0	0	0	18202	913	32	2	440	2	ZNF704	8	81577163	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	7727048	81577163	64786859	246	32358											
VPS13B	157680	broad.mit.edu	37	chr8	100147838	100147838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcaggaagcctgtttcttCatttgtggtgacaatttgag	8	17	10	6	0	3	2	2	2	1	0	3	3	3	3	1	2	1	1	1	2	2	5	rs141324814	byFrequency	TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:100147838C>T	ENST00000395996.1	+	11	1551	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	VPS13B_ENST00000358544.2_Silent_p.F480F|VPS13B_ENST00000357162.2_Silent_p.F480F|VPS13B_ENST00000355155.1_Silent_p.F480F			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	480					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTGTTTCTTCATTTGTGGTG	0.333													6	39					0	0	0	0	T	100147838	C	T	100147838	2	4	184	1	0	0	0	0	0	0	0	1	17286	825	29	2		2	VPS13B	8	100147838	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	18570675	100147838	46216184	247	32359											
VPS13B	157680	broad.mit.edu	37	chr8	100523503	100523503	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcctcattttcttcatGaaattcttctttcagcacaa	9	18	3	11	0	7	1	3	1	4	0	8	1	7	1	1	0	1	2	1	0	2	7	rs120074151		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:100523503G>T	ENST00000358544.2	+	29	4582	c.4471G>T	c.(4471-4473)Gaa>Taa	p.E1491*	VPS13B_ENST00000357162.2_Nonsense_Mutation_p.E1466*|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1491					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTTCTTCATGAAATTCTTCT	0.333													12	62					0.000978159	0.00100231	1	0	T	100523503	G	T	100523503	4	4	184	1	0	0	0	0	0	1	0	0	17286	1291	45	2	4775	2	VPS13B	8	100523503	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	375665	100523503	45840519	248	32360											
NCALD	83988	broad.mit.edu	37	chr8	102731491	102731491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctacgtacctgcacgatctCtagcatctctgccttgctga	7	13	7	14	2	3	1	0	1	3	0	5	2	3	1	2	0	6	4	2	0	3	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:102731491C>G	ENST00000395923.1	-	4	826	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	NCALD_ENST00000521599.1_Missense_Mutation_p.E123Q|NCALD_ENST00000519508.2_Missense_Mutation_p.E123Q|NCALD_ENST00000311028.3_Missense_Mutation_p.E123Q|NCALD_ENST00000522951.1_Missense_Mutation_p.E123Q|NCALD_ENST00000220931.6_Missense_Mutation_p.E123Q	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	123	EF-hand 3.			E -> V (in Ref. 2; CAB66547).	synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			TGCACGATCTCTAGCATCTCT	0.493													17	100					0	0	0	0	G	102731491	C	G	102731491	3	3	184	1	0	0	0	0	1	0	0	0	10271	922	32	2	226	2	NCALD	8	102731491	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2207988	102731491	43632531	249	32361											
ABRA	137735	broad.mit.edu	37	chr8	107782097	107782097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccaccgttttggacacctCtttctttttgatgtgagaaa	9	15	8	9	1	2	2	0	2	2	1	2	5	2	3	3	1	0	1	3	1	1	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:107782097C>G	ENST00000311955.3	-	1	376	c.322G>C	c.(322-324)Gag>Cag	p.E108Q		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	108					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTGGACACCTCTTTCTTTTTG	0.552													6	137					0	0	0	0	G	107782097	C	G	107782097	3	3	184	1	0	0	0	0	1	0	0	0	100	922	32	2	831	2	ABRA	8	107782097	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	5050606	107782097	38581925	250	32362											
NUDCD1	84955	broad.mit.edu	37	chr8	110293297	110293297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcagtacaatgttgatgtGatcaggcaaaaactgtattt	13	14	8	6	0	2	2	2	2	0	0	2	2	2	2	0	1	2	4	0	1	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:110293297G>A	ENST00000239690.4	-	6	1302	c.928C>T	c.(928-930)Cac>Tac	p.H310Y	NUDCD1_ENST00000427660.2_Missense_Mutation_p.H281Y	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	310	CS.									breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ATGTTGATGTGATCAGGCAAA	0.363													10	45					0	0	0	0	A	110293297	G	A	110293297	3	1	184	1	0	0	0	0	1	0	0	0	10793	1290	45	2	843	2	NUDCD1	8	110293297	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2511200	110293297	36070725	251	32363											
PKHD1L1	93035	broad.mit.edu	37	chr8	110497290	110497290	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggagggagaagagattgtGataacaaccacaagctacga	18	5	12	6	1	0	3	0	1	0	2	0	7	0	4	1	2	4	1	1	2	6	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:110497290G>C	ENST00000378402.5	+	58	9698	c.9594G>C	c.(9592-9594)gtG>gtC	p.V3198V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3198					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAGAGATTGTGATAACAACCA	0.294										HNSCC(38;0.096)			9	48					0	0	0	0	C	110497290	G	C	110497290	2	2	184	1	0	0	0	0	0	0	0	1	12044	1277	45	2		2	PKHD1L1	8	110497290	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	203993	110497290	35866732	252	32364											
RAD21	5885	broad.mit.edu	37	chr8	117874120	117874120	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaagtcatgaaattcttCaggtaaagtaatggcattat	16	13	7	5	0	4	1	3	1	1	0	4	1	4	1	0	2	0	3	0	2	6	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:117874120C>A	ENST00000297338.2	-	4	621	c.334G>T	c.(334-336)Gaa>Taa	p.E112*	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	112					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGAAATTCTTCAGGTAAAGTA	0.378													29	144					8.58068e-18	9.21937e-18	1	0	A	117874120	C	A	117874120	4	1	184	1	0	0	0	0	0	1	0	0	13063	835	29	2	1605	2	RAD21	8	117874120	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	7376830	117874120	28489902	253	32365											
SLC30A8	169026	broad.mit.edu	37	chr8	118183390	118183390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgaatcaagtaattctctCagctcatgttgctacaggtc	12	13	7	9	0	4	1	3	1	1	0	6	1	4	1	0	1	3	4	0	1	5	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:118183390C>T	ENST00000427715.2	+	10	1234	c.800C>T	c.(799-801)tCa>tTa	p.S267L	SLC30A8_ENST00000519688.1_Missense_Mutation_p.S267L|SLC30A8_ENST00000456015.2_Missense_Mutation_p.S316L|SLC30A8_ENST00000521243.1_Missense_Mutation_p.S267L	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	316					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GTAATTCTCTCAGCTCATGTT	0.423													15	85					0	0	0	0	T	118183390	C	T	118183390	3	4	184	1	0	0	0	0	1	0	0	0	14649	838	29	2	973	2	SLC30A8	8	118183390	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	309270	118183390	28180632	254	32366											
COLEC10	10584	broad.mit.edu	37	chr8	120118062	120118062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcagggattagggaaactGaagagaaattctactacatc	16	9	10	6	0	1	2	0	1	1	1	2	5	1	4	0	2	4	1	0	2	7	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:120118062G>A	ENST00000332843.2	+	6	507	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	156	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TAGGGAAACTGAAGAGAAATT	0.428													4	26					0	0	0	0	A	120118062	G	A	120118062	3	1	184	1	0	0	0	0	1	0	0	0	3740	1291	45	2	488	2	COLEC10	8	120118062	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1934672	120118062	26245960	255	32367											
ZHX2	22882	broad.mit.edu	37	chr8	123965799	123965799	+	Silent	SNP	G	G	A																															aaggagaacagatgcttgctGaaaacgggaaccgtgaagtg																										TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:123965799G>A	ENST00000314393.4	+	3	2884	c.2049G>A	c.(2047-2049)ctG>ctA	p.L683L		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	683						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GATGCTTGCTGAAAACGGGAA	0.557													5	51					0	0	0	0	A	123965799	G	A	123965799	2	1	184	1	0	0	0	0	0	0	0	1	17771	1277	45	2		2	ZHX2	8	123965799	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3847737	123965799	22398223	256	32368	247	2									
ZHX2	22882	broad.mit.edu	37	chr8	123965807	123965807	+	Missense_Mutation	SNP	G	G	C																															cagatgcttgctgaaaacggGaaccgtgaagtggatggagc																										TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:123965807G>C	ENST00000314393.4	+	3	2892	c.2057G>C	c.(2056-2058)gGa>gCa	p.G686A		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	686						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGAAAACGGGAACCGTGAAG	0.557													5	52					0	0	0	0	C	123965807	G	C	123965807	3	2	184	1	0	0	0	0	1	0	0	0	17771	1174	41	2	2059	2	ZHX2	8	123965807	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	8	123965807	22398215	257	32369	247	2									
EPPK1	83481	broad.mit.edu	37	chr8	144941998	144941998	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgagctcccgcttcctGtcctctgtgaagtatggaga	7	12	12	10	1	1	3	0	2	1	1	4	5	4	4	3	2	1	3	3	2	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:144941998G>A	ENST00000525985.1	-	2	5495	c.5424C>T	c.(5422-5424)gaC>gaT	p.D1808D				P58107	EPIPL_HUMAN	epiplakin 1	1808						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGCTTCCTGTCCTCTGTGA	0.527													16	71					0	0	0	0	A	144941998	G	A	144941998	2	1	184	1	0	0	0	0	0	0	0	1	5228	1368	48	4		4	EPPK1	8	144941998	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	20976191	144941998	1422024	258	32370											
SPATC1	375686	broad.mit.edu	37	chr8	145096263	145096263	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctccaacatcccagagaaGatcatccaggtgtgcggcca	11	7	10	13	1	2	2	1	0	1	2	5	3	4	2	4	2	2	0	4	2	2	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:145096263G>C	ENST00000377470.3	+	4	1539	c.1437G>C	c.(1435-1437)aaG>aaC	p.K479N	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	479										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCAGAGAAGATCATCCAGG	0.632													6	25					0	0	0	0	C	145096263	G	C	145096263	3	2	184	1	0	0	0	0	1	0	0	0	15107	933	33	2	1451	2	SPATC1	8	145096263	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	154265	145096263	1267759	259	32371											
UHRF2	115426	broad.mit.edu	37	chr9	6506134	6506134	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcccaatgagattctgcaGactctacttgaccttttctt	9	16	5	11	0	3	3	0	2	3	2	4	4	4	3	2	0	2	1	2	0	2	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:6506134G>A	ENST00000276893.5	+	16	2532	c.2364G>A	c.(2362-2364)caG>caA	p.Q788Q	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	788					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AGATTCTGCAGACTCTACTTG	0.463													5	100					0	0	0	0	A	6506134	G	A	6506134	2	1	184	1	0	0	0	0	0	0	0	1	17066	933	33	2		2	UHRF2	9	6506134	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08		6506134	134707297	260	32372											
MTAP	4507	broad.mit.edu	37	chr9	21854777	21854777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttatcaacatgaccacagttCcagaggtggttcttgctaag	11	12	9	9	0	2	2	1	1	1	1	3	2	3	2	2	2	2	3	2	2	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:21854777C>T	ENST00000380172.4	+	6	804	c.598C>T	c.(598-600)Cca>Tca	p.P200S	MTAP_ENST00000460874.2_Missense_Mutation_p.P217S|MTAP_ENST00000580900.1_Missense_Mutation_p.P200S|RP11-145E5.5_ENST00000404796.2_Intron	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	200					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	GACCACAGTTCCAGAGGTGGT	0.537													9	58					0	0	0	0	T	21854777	C	T	21854777	3	4	184	1	0	0	0	0	1	0	0	0	9981	855	30	2	620	2	MTAP	9	21854777	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	15348643	21854777	119358654	261	32373											
GBA2	57704	broad.mit.edu	37	chr9	35739738	35739738	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttccagccacactgtgcctCcatcagccaggaagtatagt	10	9	8	14	0	1	0	1	0	0	0	3	1	3	1	5	1	3	1	5	1	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:35739738C>G	ENST00000378094.4	-	9	1982	c.1469G>C	c.(1468-1470)gGa>gCa	p.G490A	GBA2_ENST00000378103.3_Missense_Mutation_p.G490A|GBA2_ENST00000545786.1_Missense_Mutation_p.G496A|GBA2_ENST00000467252.1_5'UTR			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	490					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACTGTGCCTCCATCAGCCAG	0.532													7	41					0	0	0	0	G	35739738	C	G	35739738	3	3	184	1	0	0	0	0	1	0	0	0	6316	855	30	2	1350	2	GBA2	9	35739738	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	13884961	35739738	105473693	262	32374											
GBA2	57704	broad.mit.edu	37	chr9	35741858	35741858	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggacttgctggtacacagtCtgcccttcccgacgcaggca	8	8	11	14	2	1	0	0	0	1	0	2	2	2	1	2	3	3	4	2	3	1	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:35741858C>G	ENST00000378094.4	-	4	1110	c.597G>C	c.(595-597)caG>caC	p.Q199H	GBA2_ENST00000378103.3_Missense_Mutation_p.Q199H|GBA2_ENST00000545786.1_Missense_Mutation_p.Q205H|GBA2_ENST00000467252.1_5'UTR			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	199					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTACACAGTCTGCCCTTCCC	0.567													3	38					0	0	0	0	G	35741858	C	G	35741858	3	3	184	1	0	0	0	0	1	0	0	0	6316	912	32	2	2242	2	GBA2	9	35741858	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2120	35741858	105471573	263	32375											
NPR2	4882	broad.mit.edu	37	chr9	35806507	35806507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaggaaaaacgcaaggctGaagctctgctctaccaaatc	14	7	10	10	1	2	1	0	1	2	0	3	3	2	3	1	3	4	4	1	3	6	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:35806507G>A	ENST00000342694.2	+	16	2746	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	831					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACGCAAGGCTGAAGCTCTGCT	0.517													17	78					0	0	0	0	A	35806507	G	A	35806507	3	1	184	1	0	0	0	0	1	0	0	0	10666	1291	45	2	2553	2	NPR2	9	35806507	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	64649	35806507	105406924	264	32376											
OR13J1	392309	broad.mit.edu	37	chr9	35870019	35870019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtacctgagtggctggCagatggccaggtagcggtca	7	8	17	9	2	1	2	1	1	0	1	1	2	1	2	2	6	2	4	2	6	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:35870019C>A	ENST00000377981.2	-	1	442	c.380G>T	c.(379-381)tGc>tTc	p.C127F		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GAGTGGCTGGCAGATGGCCAG	0.617													10	42					7.48243e-07	7.82415e-07	1	0	A	35870019	C	A	35870019	3	1	184	1	0	0	0	0	1	0	0	0	11015	710	25	4	561	4	OR13J1	9	35870019	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	63512	35870019	105343412	265	32377											
CLTA	1211	broad.mit.edu	37	chr9	36211652	36211652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgagtcgtccccaggcactGagtgggaacgggtggcccgg	7	5	17	12	4	0	1	0	1	0	0	2	3	1	2	3	5	1	1	3	5	1	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:36211652G>A	ENST00000433436.2	+	7	829	c.628G>A	c.(628-630)Gag>Aag	p.E210K	CLTA_ENST00000396603.2_Missense_Mutation_p.E198K|CLTA_ENST00000538225.1_Missense_Mutation_p.E192K|CLTA_ENST00000470744.1_Missense_Mutation_p.E192K|CLTA_ENST00000242285.6_Missense_Mutation_p.E210K|CLTA_ENST00000466396.1_Missense_Mutation_p.E158K|CLTA_ENST00000345519.5_Missense_Mutation_p.E180K|CLTA_ENST00000540080.1_Missense_Mutation_p.E128K	NM_007096.3	NP_009027.1	P09496	CLCA_HUMAN	clathrin, light chain A	210					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			CCCAGGCACTGAGTGGGAACG	0.527													14	115					0	0	0	0	A	36211652	G	A	36211652	3	1	184	1	0	0	0	0	1	0	0	0	3594	1291	45	2	654	2	CLTA	9	36211652	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	341633	36211652	105001779	266	32378											
TRPM6	140803	broad.mit.edu	37	chr9	77354768	77354768	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcctcagaccaagtgctGacgactctcatagctttacg	10	11	7	13	2	3	2	3	1	1	1	5	3	4	2	2	0	3	2	2	0	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:77354768G>A	ENST00000451710.3	-	33	5607	c.5370C>T	c.(5368-5370)gtC>gtT	p.V1790V	TRPM6_ENST00000376864.4_Silent_p.V1790V|TRPM6_ENST00000361255.3_Silent_p.V1781V|TRPM6_ENST00000360774.1_Silent_p.V1786V|TRPM6_ENST00000449912.2_Silent_p.V1781V|TRPM6_ENST00000376871.3_Silent_p.V623V|TRPM6_ENST00000376872.3_Silent_p.V741V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1786	Alpha-type protein kinase.				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						ACCAAGTGCTGACGACTCTCA	0.512													20	109					0	0	0	0	A	77354768	G	A	77354768	2	1	184	1	0	0	0	0	0	0	0	1	16685	1277	45	2		2	TRPM6	9	77354768	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	41143116	77354768	63858663	267	32379											
C9orf3	84909	broad.mit.edu	37	chr9	97844977	97844977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataggtcctcagcccaggtgGtggccgaaatgttattttaa	10	12	11	8	1	1	0	1	0	0	0	2	1	2	0	3	4	1	1	3	4	4	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:97844977G>T	ENST00000375315.2	+	15	2440	c.2440G>T	c.(2440-2442)Gtg>Ttg	p.V814L	C9orf3_ENST00000425634.2_Missense_Mutation_p.V176L|C9orf3_ENST00000433691.2_Missense_Mutation_p.V155L|C9orf3_ENST00000297979.5_Missense_Mutation_p.V715L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	814					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGCCCAGGTGGTGGCCGAAAT	0.517													13	50					4.3838e-07	4.60577e-07	1	0	T	97844977	G	T	97844977	3	4	184	1	0	0	0	0	1	0	0	0	2502	1261	44	4	2193	4	C9orf3	9	97844977	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	20490209	97844977	43368454	268	32380											
PTCH1	5727	broad.mit.edu	37	chr9	98242295	98242295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgactgtgccacccacaatCaactcctcctgccagtgcat	9	10	6	16	0	1	1	1	1	0	0	3	1	3	1	5	0	4	1	5	0	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:98242295C>G	ENST00000430669.2	-	7	1410	c.825G>C	c.(823-825)ttG>ttC	p.L275F	PTCH1_ENST00000331920.6_Missense_Mutation_p.L341F|PTCH1_ENST00000421141.1_Missense_Mutation_p.L190F|PTCH1_ENST00000375274.2_Missense_Mutation_p.L340F|PTCH1_ENST00000418258.1_Missense_Mutation_p.L190F|PTCH1_ENST00000429896.2_Missense_Mutation_p.L190F|PTCH1_ENST00000437951.1_Missense_Mutation_p.L275F			Q13635	PTC1_HUMAN	patched 1	341					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.L341F(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CACCCACAATCAACTCCTCCT	0.458													30	110					0	0	0	0	G	98242295	C	G	98242295	3	3	184	1	0	0	0	0	1	0	0	0	12809	825	29	2	3388	2	PTCH1	9	98242295	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	397318	98242295	42971136	269	32381											
FOXE1	2304	broad.mit.edu	37	chr9	100616544	100616544	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcctcaagatcccgcgCgaggccggccgcccgggtaa	6	6	13	16	6	1	1	1	0	0	1	3	2	3	1	5	3	1	2	5	3	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:100616544C>G	ENST00000375123.3	+	1	1009	c.348C>G	c.(346-348)cgC>cgG	p.R116R		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	116					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				AGATCCCGCGCGAGGCCGGCC	0.637													8	64					0	0	0	0	G	100616544	C	G	100616544	2	3	184	1	0	0	0	0	0	0	0	1	6050	755	27	3		3	FOXE1	9	100616544	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2374249	100616544	40596887	270	32382											
TRIM14	9830	broad.mit.edu	37	chr9	100872212	100872212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctatctgggttatgttgtCaatgtgctgctgcttcttga	5	19	10	7	0	4	1	1	1	3	0	4	1	4	1	0	1	3	5	0	1	3	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:100872212C>T	ENST00000341469.2	-	2	271	c.262G>A	c.(262-264)Gac>Aac	p.D88N	TRIM14_ENST00000375098.3_Missense_Mutation_p.D88N|TRIM14_ENST00000342043.3_Missense_Mutation_p.D88N	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	88						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GTTATGTTGTCAATGTGCTGC	0.448													25	207					0	0	0	0	T	100872212	C	T	100872212	3	4	184	1	0	0	0	0	1	0	0	0	16584	826	29	2	1086	2	TRIM14	9	100872212	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	255668	100872212	40341219	271	32383											
ERP44	23071	broad.mit.edu	37	chr9	102784444	102784444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtattctctcttcatcatCatcccattacgaaacaattt	11	16	2	12	1	5	0	3	0	2	0	7	1	6	0	1	0	2	1	1	0	4	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:102784444C>T	ENST00000262455.6	-	5	550	c.351G>A	c.(349-351)atG>atA	p.M117I		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	117	Thioredoxin.				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TCTTCATCATCATCCCATTAC	0.393													12	115					0	0	0	0	T	102784444	C	T	102784444	3	4	184	1	0	0	0	0	1	0	0	0	5281	826	29	2	901	2	ERP44	9	102784444	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1912232	102784444	38428987	272	32384											
AKNA	80709	broad.mit.edu	37	chr9	117120255	117120255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgtggaaggcgctcagaGatgccgcttccctccaggct	6	10	12	13	2	2	1	1	0	1	1	4	3	4	2	3	3	1	3	3	3	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:117120255G>C	ENST00000307564.4	-	12	2846	c.2685C>G	c.(2683-2685)atC>atG	p.I895M	AKNA_ENST00000374075.5_Missense_Mutation_p.I814M|AKNA_ENST00000223791.3_Missense_Mutation_p.I355M|AKNA_ENST00000374088.3_Missense_Mutation_p.I895M	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	895					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGCGCTCAGAGATGCCGCTTC	0.642													10	65					0	0	0	0	C	117120255	G	C	117120255	3	2	184	1	0	0	0	0	1	0	0	0	463	932	33	2	1678	2	AKNA	9	117120255	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	14335811	117120255	24093176	273	32385											
OR1L3	26735	broad.mit.edu	37	chr9	125438029	125438029	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagaagggctggcctctgtGatggctccatttgtctgtat	7	13	12	9	0	2	2	0	1	2	1	3	2	3	2	2	3	0	3	2	3	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:125438029G>A	ENST00000304820.2	+	1	715	c.621G>A	c.(619-621)gtG>gtA	p.V207V		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TGGCCTCTGTGATGGCTCCAT	0.453													29	120					0	0	0	0	A	125438029	G	A	125438029	2	1	184	1	0	0	0	0	0	0	0	1	11035	1277	45	2		2	OR1L3	9	125438029	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	8317774	125438029	15775402	274	32386											
RABGAP1	23637	broad.mit.edu	37	chr9	125865491	125865491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaagggaaagagacttgctGagagcagctgccgcctcccg	10	6	13	12	2	1	2	1	1	0	2	2	5	2	3	3	1	4	3	3	1	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:125865491G>A	ENST00000373647.4	+	26	3343	c.3209G>A	c.(3208-3210)tGa>tAa	p.*1070*	RABGAP1_ENST00000373643.5_Silent_p.*409*	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	0					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GAGACTTGCTGAGAGCAGCTG	0.522											OREG0019466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	73					0	0	0	0	A	125865491	G	A	125865491	2	1	184	1	0	0	0	0	0	0	0	1	13046	1285	45	2		2	RABGAP1	9	125865491	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	427462	125865491	15347940	275	32387											
HSPA5	3309	broad.mit.edu	37	chr9	127999008	127999008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtcttcaatgtcagcatCttggtggctttccagccatt	8	14	9	10	0	4	0	2	0	2	0	5	1	5	0	2	2	2	2	2	2	2	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:127999008C>T	ENST00000324460.6	-	8	2031	c.1828G>A	c.(1828-1830)Gat>Aat	p.D610N		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	610					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	ATGTCAGCATCTTGGTGGCTT	0.423										Prostate(1;0.17)			16	127					0	0	0	0	T	127999008	C	T	127999008	3	4	184	1	0	0	0	0	1	0	0	0	7466	913	32	2	140	2	HSPA5	9	127999008	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2133517	127999008	13214423	276	32388											
HSPA5	3309	broad.mit.edu	37	chr9	128001040	128001040	+	Missense_Mutation	SNP	C	C	T																															aagaacaatttcatcaatatCagacttcttcaaatcagaat																										TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:128001040C>T	ENST00000324460.6	-	6	1266	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	355					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TCATCAATATCAGACTTCTTC	0.418										Prostate(1;0.17)			15	57					0	0	0	0	T	128001040	C	T	128001040	3	4	184	1	0	0	0	0	1	0	0	0	7466	826	29	2	913	2	HSPA5	9	128001040	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2032	128001040	13212391	277	32389	248	2									
HSPA5	3309	broad.mit.edu	37	chr9	128001050	128001050	+	Silent	SNP	C	C	T																															tcatcaatatcagacttcttCaaatcagaatcttccaacac																										TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:128001050C>T	ENST00000324460.6	-	6	1256	c.1053G>A	c.(1051-1053)ttG>ttA	p.L351L		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	351					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CAGACTTCTTCAAATCAGAAT	0.393										Prostate(1;0.17)			16	51					0	0	0	0	T	128001050	C	T	128001050	2	4	184	1	0	0	0	0	0	0	0	1	7466	825	29	2		2	HSPA5	9	128001050	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	10	128001050	13212381	278	32390	248	2									
SPTAN1	6709	broad.mit.edu	37	chr9	131388879	131388879	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctggaccgccagatcaaGagcttccgcgtagcctccaa	10	6	11	14	3	1	2	1	0	0	2	3	4	3	3	5	1	3	3	5	1	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:131388879G>C	ENST00000372739.3	+	49	6599	c.6489G>C	c.(6487-6489)aaG>aaC	p.K2163N	SPTAN1_ENST00000358161.5_Missense_Mutation_p.K2163N|SPTAN1_ENST00000372731.4_Missense_Mutation_p.K2158N	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2158				A -> R (in Ref. 13; CAA60503).	actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCCAGATCAAGAGCTTCCGCG	0.597													9	32					0	0	0	0	C	131388879	G	C	131388879	3	2	184	1	0	0	0	0	1	0	0	0	15207	933	33	2	6679	2	SPTAN1	9	131388879	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3387829	131388879	9824552	279	32391											
NCS1	23413	broad.mit.edu	37	chr9	132984969	132984969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggacaatgatggctacatCaccaggaatgagatgctgga	13	9	12	7	0	1	2	1	2	0	1	1	6	1	5	1	4	2	2	1	4	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:132984969C>G	ENST00000372398.3	+	5	434	c.348C>G	c.(346-348)atC>atG	p.I116M	NCS1_ENST00000458469.1_Missense_Mutation_p.I98M	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	116	EF-hand 3.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						ATGGCTACATCACCAGGAATG	0.562													11	57					0	0	0	0	G	132984969	C	G	132984969	3	3	184	1	0	0	0	0	1	0	0	0	10310	816	29	2	380	2	NCS1	9	132984969	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1596090	132984969	8228462	280	32392											
RAPGEF1	2889	broad.mit.edu	37	chr9	134473643	134473643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaatgagggacagctcGtccacttcctcctccgactg	7	10	10	14	2	1	1	1	1	0	0	6	3	5	2	4	2	1	1	4	2	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:134473643G>A	ENST00000372195.1	-	13	2292	c.2049C>T	c.(2047-2049)gaC>gaT	p.D683D	RAPGEF1_ENST00000372190.3_Silent_p.D684D|RAPGEF1_ENST00000372189.3_Silent_p.D666D			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	666					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGGACAGCTCGTCCACTTCCT	0.592													8	22					0	0	0	0	A	134473643	G	A	134473643	2	1	184	1	0	0	0	0	0	0	0	1	13125	1136	40	1		1	RAPGEF1	9	134473643	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1488674	134473643	6739788	281	32393											
NTNG2	84628	broad.mit.edu	37	chr9	135073644	135073644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccctaccagttctacgccGaggactgcatggaggccttc	8	8	11	14	2	1	0	0	0	1	0	2	3	1	2	4	3	4	2	4	3	2	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:135073644G>A	ENST00000393229.3	+	3	1281	c.505G>A	c.(505-507)Gag>Aag	p.E169K	NTNG2_ENST00000372179.3_Missense_Mutation_p.E169K|NTNG2_ENST00000360670.3_Missense_Mutation_p.E169K|NTNG2_ENST00000393228.4_Missense_Mutation_p.E169K	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	169	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GTTCTACGCCGAGGACTGCAT	0.672													6	19					0	0	0	0	A	135073644	G	A	135073644	3	1	184	1	0	0	0	0	1	0	0	0	10776	1059	37	1	511	1	NTNG2	9	135073644	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	600001	135073644	6139787	282	32394											
ADAMTS13	11093	broad.mit.edu	37	chr9	136323096	136323096	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcgctgagtccagccacGagtaatgcagggggctgccg	7	6	14	14	3	0	1	0	1	0	0	2	2	1	1	4	2	3	4	4	2	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:136323096G>A	ENST00000371929.3	+	28	4401	c.3957G>A	c.(3955-3957)acG>acA	p.T1319T	ADAMTS13_ENST00000356589.2_Silent_p.T1232T|ADAMTS13_ENST00000355699.2_Silent_p.T1263T|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371910.1_Silent_p.T115T|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1319	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTCCAGCCACGAGTAATGCAG	0.607													4	69					0	0	0	0	A	136323096	G	A	136323096	2	1	184	1	0	0	0	0	0	0	0	1	258	1045	37	1		1	ADAMTS13	9	136323096	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1249452	136323096	4890335	283	32395											
VAV2	7410	broad.mit.edu	37	chr9	136629201	136629201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtcactggatgccctcctCttctacgtacgttgaaggaa	8	11	9	13	3	3	1	1	1	2	0	4	3	4	3	3	2	3	2	3	2	4	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:136629201C>T	ENST00000371851.1	-	28	2915	c.2590G>A	c.(2590-2592)Gag>Aag	p.E864K	VAV2_ENST00000406606.3_Missense_Mutation_p.E835K|VAV2_ENST00000371850.3_Missense_Mutation_p.E874K			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	874	SH3 2.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ATGCCCTCCTCTTCTACGTAC	0.498													5	42					0	0	0	0	T	136629201	C	T	136629201	3	4	184	1	0	0	0	0	1	0	0	0	17228	922	32	2	20	2	VAV2	9	136629201	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	306105	136629201	4584230	284	32396											
NOTCH1	4851	broad.mit.edu	37	chr9	139391123	139391123	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatctgggacagggcgctGgcagcaaggctactgtgcag	9	7	15	10	1	2	0	1	0	1	0	2	1	2	1	0	4	3	5	0	4	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:139391123G>A	ENST00000277541.6	-	34	7143	c.7068C>T	c.(7066-7068)gcC>gcT	p.A2356A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2356					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACAGGGCGCTGGCAGCAAGGC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			10	62					0	0	0	0	A	139391123	G	A	139391123	2	1	184	1	0	0	0	0	0	0	0	1	10617	1335	47	4		4	NOTCH1	9	139391123	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2761922	139391123	1822308	285	32397											
LCN10	414332	broad.mit.edu	37	chr9	139635723	139635723	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccctcctgtccttccctCgggcccgccgcgtatgcaca	3	9	8	21	4	0	0	0	0	0	0	5	0	4	0	7	1	1	2	7	1	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:139635723C>T	ENST00000497771.1	-	3	403	c.348G>A	c.(346-348)ccG>ccA	p.P116P	LCN10_ENST00000474369.1_Intron|LCN10_ENST00000527229.1_Silent_p.P116P|LCN6_ENST00000435202.1_Intron	NM_001001712.2	NP_001001712.2	Q6JVE6	LCN10_HUMAN	lipocalin 10	103					transport	extracellular region	binding			breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GTCCTTCCCTCGGGCCCGCCG	0.652													4	30					0	0	0	0	T	139635723	C	T	139635723	2	4	184	1	0	0	0	0	0	0	0	1	8734	871	31	1		1	LCN10	9	139635723	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	244600	139635723	1577708	286	32398											
FAM166A	401565	broad.mit.edu	37	chr9	140139845	140139845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtcccaagtctctggagtCtcccttcctgcctggtgggc	3	12	12	14	0	2	0	0	0	2	0	6	1	4	1	4	3	1	0	4	3	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:140139845C>T	ENST00000344774.4	-	3	490	c.436G>A	c.(436-438)Gac>Aac	p.D146N	FAM166A_ENST00000388932.2_Missense_Mutation_p.D146N	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	146										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						TCTCTGGAGTCTCCCTTCCTG	0.652													7	74					0	0	0	0	T	140139845	C	T	140139845	3	4	184	1	0	0	0	0	1	0	0	0	5522	913	32	2	537	2	FAM166A	9	140139845	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	504122	140139845	1073586	287	32399											
ITIH2	3698	broad.mit.edu	37	chr10	7759731	7759731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctatctgcaacctggaCggctggccaaacacttagag	11	8	11	11	1	2	1	0	0	2	1	2	3	2	3	2	4	3	2	2	4	4	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:7759731C>T	ENST00000358415.4	+	6	776	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	ITIH2_ENST00000379587.4_Missense_Mutation_p.R193W|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	204					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCAACCTGGACGGCTGGCCAA	0.512													24	135					0	0	0	0	T	7759731	C	T	7759731	3	4	184	1	0	0	0	0	1	0	0	0	7957	527	19	1	632	1	ITIH2	10	7759731	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08		7759731	127775016	288	32400											
C10orf111	221060	broad.mit.edu	37	chr10	15138708	15138708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcaactcttactgcctttCtcttttcgggctcaagattc	7	15	7	12	1	3	1	1	0	2	1	6	1	3	1	1	2	3	2	1	2	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:15138708C>T	ENST00000378207.3	-	2	389	c.116G>A	c.(115-117)aGa>aAa	p.R39K		NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	39						integral to membrane				lung(5)|upper_aerodigestive_tract(1)	6						TACTGCCTTTCTCTTTTCGGG	0.498													33	112					0	0	0	0	T	15138708	C	T	15138708	3	4	184	1	0	0	0	0	1	0	0	0	1593	913	32	2	355	2	C10orf111	10	15138708	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	7378977	15138708	120396039	289	32401											
VIM	7431	broad.mit.edu	37	chr10	17275592	17275592	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgttcaaaataggatgttGacaatgcgtctctggcacgt	10	13	10	8	2	3	1	1	1	2	0	4	2	3	2	0	2	1	3	0	2	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:17275592G>C	ENST00000544301.1	+	4	1044	c.631G>C	c.(631-633)Gac>Cac	p.D211H	VIM_ENST00000224237.5_Missense_Mutation_p.D211H|RP11-124N14.3_ENST00000456355.1_RNA	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	211	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATAGGATGTTGACAATGCGTC	0.403													7	37					0	0	0	0	C	17275592	G	C	17275592	3	2	184	1	0	0	0	0	1	0	0	0	17262	1290	45	2	641	2	VIM	10	17275592	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2136884	17275592	118259155	290	32402											
SLC39A12	221074	broad.mit.edu	37	chr10	18250518	18250518	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttccacagtgctttgaAccagatgcactattactaat	11	15	5	10	0	1	2	0	1	1	1	2	2	2	2	2	0	4	2	2	0	4	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:18250518A>T	ENST00000377369.2	+	3	543	c.270A>T	c.(268-270)gaA>gaT	p.E90D	SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.E90D|SLC39A12_ENST00000377374.4_Missense_Mutation_p.E90D	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	90					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AGTGCTTTGAACCAGATGCAC	0.368													11	65					0	0	0	0	T	18250518	A	T	18250518	3	4	184	1	0	0	0	0	1	0	0	0	14703	40	2	5	276	5	SLC39A12	10	18250518	Missense_Mutation	SNP	A	TCGA-CR-6481-01A-11D-1870-08	974926	18250518	117284229	291	32403											
DNAJC1	64215	broad.mit.edu	37	chr10	22209807	22209807	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaagagtaatgccagctCagcattgctcatttttctca	12	12	7	10	0	3	1	3	0	1	1	4	2	3	1	1	0	5	4	1	0	3	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:22209807C>A	ENST00000376980.3	-	4	747	c.457G>T	c.(457-459)Gag>Tag	p.E153*	DNAJC1_ENST00000376946.1_3'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	153					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AATGCCAGCTCAGCATTGCTC	0.398													12	63					0.000978159	0.00100231	1	0	A	22209807	C	A	22209807	4	1	184	1	0	0	0	0	0	1	0	0	4664	835	29	2	1243	2	DNAJC1	10	22209807	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3959289	22209807	113324940	292	32404											
ANKRD26	22852	broad.mit.edu	37	chr10	27306526	27306526	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtttgacttgaccaagttCtaccatattcctttctatat	9	18	4	10	0	2	2	0	2	2	0	3	2	3	2	3	0	1	2	3	0	5	9			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:27306526C>G	ENST00000376087.4	-	30	4576	c.4411G>C	c.(4411-4413)Gaa>Caa	p.E1471Q	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1487Q|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E1028Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1470						centrosome		p.E1471K(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGACCAAGTTCTACCATATTC	0.318													19	85					0	0	0	0	G	27306526	C	G	27306526	3	3	184	1	0	0	0	0	1	0	0	0	654	922	32	2	741	2	ANKRD26	10	27306526	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	5096719	27306526	108228221	293	32405											
FZD8	8325	broad.mit.edu	37	chr10	35929113	35929113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccatgtgagcgacaagatCacccaccagatggagctggc	13	5	11	12	1	1	3	1	1	0	2	1	5	1	4	3	2	3	1	3	2	2	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:35929113C>T	ENST00000374694.1	-	1	1249	c.1245G>A	c.(1243-1245)gtG>gtA	p.V415V		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	415					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.V415V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GCGACAAGATCACCCACCAGA	0.632													10	38					0	0	0	0	T	35929113	C	T	35929113	2	4	184	1	0	0	0	0	0	0	0	1	6184	813	29	2		2	FZD8	10	35929113	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	8622587	35929113	99605634	294	32406											
ZNF33A	7581	broad.mit.edu	37	chr10	38344019	38344019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcacaccttcagaaaggtGataaaggagagaaacacttt	16	9	9	7	0	2	3	2	1	0	2	2	5	2	4	1	2	1	0	1	2	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:38344019G>A	ENST00000374618.3	+	5	1145	c.967G>A	c.(967-969)Gat>Aat	p.D323N	ZNF33A_ENST00000458705.2_Missense_Mutation_p.D322N|ZNF33A_ENST00000432900.2_Missense_Mutation_p.D329N|ZNF33A_ENST00000307441.9_Missense_Mutation_p.D322N|ZNF33A_ENST00000469037.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	322						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TCAGAAAGGTGATAAAGGAGA	0.423													14	85					0	0	0	0	A	38344019	G	A	38344019	3	1	184	1	0	0	0	0	1	0	0	0	17949	1290	45	2	981	2	ZNF33A	10	38344019	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2414906	38344019	97190728	295	32407											
ANK3	288	broad.mit.edu	37	chr10	61819457	61819457	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtattgaggatactcactCagacatacattctccaactg	13	11	7	10	0	3	2	2	1	1	1	4	3	3	3	1	2	3	1	1	2	4	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:61819457C>G	ENST00000373827.2	-	40	5216	c.5047_splice	c.e40+1	p.L1682_splice	ANK3_ENST00000355288.2_Splice_Site_p.L822_splice|ANK3_ENST00000280772.1_Intron|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000503366.1_Splice_Site_p.L1689_splice	NM_001204403.1	NP_001191332.1	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3760	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GATACTCACTCAGACATACAT	0.458													16	126					0	0	0	0	G	61819457	C	G	61819457	5	3	184	1	0	0	0	0	0	0	1	0	622	840	29	2	555	2	ANK3	10	61819457	Splice_Site	SNP	C	TCGA-CR-6481-01A-11D-1870-08	23475438	61819457	73715290	296	32408											
ANK3	288	broad.mit.edu	37	chr10	61840377	61840377	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtctatctgttttctcaatCtgaaaaggaaaaaaaaaaag	18	11	6	6	1	4	1	1	1	4	0	5	2	4	2	0	1	0	1	0	1	9	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:61840377C>T	ENST00000280772.1	-	36	4542		c.e36-1		ANK3_ENST00000355288.2_Splice_Site|ANK3_ENST00000373827.2_Splice_Site|ANK3_ENST00000503366.1_Splice_Site	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTCTCAATCTGAAAAGGAA	0.378													6	37					0	0	0	0	T	61840377	C	T	61840377	5	4	184	1	0	0	0	0	0	0	1	0	622	927	32	2	9128	2	ANK3	10	61840377	Splice_Site	SNP	C	TCGA-CR-6481-01A-11D-1870-08	20920	61840377	73694370	297	32409											
PRF1	5551	broad.mit.edu	37	chr10	72358020	72358020	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatcgtccctgccagagTcctgatcccagacctgcaac	8	8	9	16	1	1	3	1	1	0	2	5	3	4	3	5	1	3	1	5	1	1	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:72358020T>A	ENST00000441259.1	-	3	1617	c.1457A>T	c.(1456-1458)gAc>gTc	p.D486V	PRF1_ENST00000373209.2_Missense_Mutation_p.D486V	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	486	C2.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCTGCCAGAGTCCTGATCCCA	0.572			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				21	72					0	0	0	0	A	72358020	T	A	72358020	3	1	184	1	0	0	0	0	1	0	0	0	12558	1667	58	5	214	5	PRF1	10	72358020	Missense_Mutation	SNP	T	TCGA-CR-6481-01A-11D-1870-08	10517643	72358020	63176727	298	32410											
DLG5	9231	broad.mit.edu	37	chr10	79614066	79614066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcaggctctgcaggtccGacatggctcgcacgcactgg	6	8	13	14	3	2	0	0	0	2	0	4	1	3	0	1	4	2	6	1	4	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:79614066G>A	ENST00000372391.2	-	4	604	c.599C>T	c.(598-600)tCg>tTg	p.S200L	DLG5_ENST00000372388.2_Missense_Mutation_p.S200L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	200					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGCAGGTCCGACATGGCTCG	0.597													8	33					0	0	0	0	A	79614066	G	A	79614066	3	1	184	1	0	0	0	0	1	0	0	0	4595	1059	37	1	5276	1	DLG5	10	79614066	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	7256046	79614066	55920681	299	32411											
POLR3A	11128	broad.mit.edu	37	chr10	79784393	79784393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaatttgatacaatgggatCcaccacttttttgttggtct	10	16	8	7	0	1	1	0	1	1	0	2	3	2	2	2	2	1	1	2	2	3	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:79784393C>T	ENST00000372371.3	-	5	696	c.559G>A	c.(559-561)Gat>Aat	p.D187N		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	187					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ACAATGGGATCCACCACTTTT	0.383													13	66					0	0	0	0	T	79784393	C	T	79784393	3	4	184	1	0	0	0	0	1	0	0	0	12300	855	30	2	3721	2	POLR3A	10	79784393	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	170327	79784393	55750354	300	32412											
LRIT1	26103	broad.mit.edu	37	chr10	85994045	85994045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcacatctcagttcagtctCaatgaaggccaagtttgggg	10	10	12	9	0	3	1	3	1	2	0	5	1	3	1	1	4	0	3	1	4	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:85994045C>T	ENST00000372105.3	-	3	700	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	227	LRRCT.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGTTCAGTCTCAATGAAGGCC	0.582													13	66					0	0	0	0	T	85994045	C	T	85994045	3	4	184	1	0	0	0	0	1	0	0	0	9011	835	29	2	1200	2	LRIT1	10	85994045	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	6209652	85994045	49540702	301	32413											
ALDH18A1	5832	broad.mit.edu	37	chr10	97373783	97373783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atacatgtgacagatcccttCgctgtgccccatcactggaa	10	10	8	13	1	1	2	1	1	0	1	3	3	2	3	3	1	2	1	3	1	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:97373783C>T	ENST00000371224.2	-	14	1878	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.E579K	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	581	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	CAGATCCCTTCGCTGTGCCCC	0.502													7	179					0	0	0	0	T	97373783	C	T	97373783	3	4	184	1	0	0	0	0	1	0	0	0	489	893	31	1	666	1	ALDH18A1	10	97373783	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	11379738	97373783	38160964	302	32414											
TLL2	7093	broad.mit.edu	37	chr10	98133495	98133495	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgggggccaggctgtcCggcccgtcatacatttccag	8	8	13	12	2	1	1	1	0	0	1	3	1	3	1	4	4	1	1	4	4	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:98133495C>T	ENST00000357947.3	-	19	2745	c.2520G>A	c.(2518-2520)ccG>ccA	p.P840P		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	840	CUB 4.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCAGGCTGTCCGGCCCGTCAT	0.542													11	61					0	0	0	0	T	98133495	C	T	98133495	2	4	184	1	0	0	0	0	0	0	0	1	16040	639	23	1		1	TLL2	10	98133495	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	759712	98133495	37401252	303	32415											
PIK3AP1	118788	broad.mit.edu	37	chr10	98392752	98392752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgagccagtccttgcatCtgatcagcaactcagatgca	10	11	8	12	0	3	3	2	2	1	1	4	3	4	3	2	0	5	3	2	0	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:98392752C>T	ENST00000371109.3	-	1	246	c.65G>A	c.(64-66)aGa>aAa	p.R22K	PIK3AP1_ENST00000339364.5_Intron|PIK3AP1_ENST00000468783.1_Intron|PIK3AP1_ENST00000371110.2_Intron			Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	0						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		gtccttgcatctgatcagcaa	0.498													5	28					0	0	0	0	T	98392752	C	T	98392752	3	4	184	1	0	0	0	0	1	0	0	0	11980	928	32	2		2	PIK3AP1	10	98392752	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	259257	98392752	37141995	304	32416											
TLX1	3195	broad.mit.edu	37	chr10	102891411	102891411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctgcatgggacccgcctCgcgcctccaggacggagaat	7	6	14	14	4	0	1	0	0	0	1	2	4	1	3	4	4	1	2	4	4	1	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:102891411C>T	ENST00000370196.6	+	1	2155	c.113C>T	c.(112-114)tCg>tTg	p.S38L	TLX1_ENST00000467928.2_Missense_Mutation_p.S38L			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	38						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GGACCCGCCTCGCGCCTCCAG	0.706			T	"TRB@, TRD@"	T-ALL								4	16					0	0	0	0	T	102891411	C	T	102891411	3	4	184	1	0	0	0	0	1	0	0	0	16053	893	31	1	115	1	TLX1	10	102891411	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	4498659	102891411	32643336	305	32417											
PDCD11	22984	broad.mit.edu	37	chr10	105194617	105194617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgaaggtgactcccaacGaggggctgaccgtctccttc	7	9	13	12	2	1	3	0	3	1	0	4	4	2	3	3	4	1	1	3	4	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:105194617G>A	ENST00000369797.3	+	25	3824	c.3730G>A	c.(3730-3732)Gag>Aag	p.E1244K		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1244	S1 motif 11.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GACTCCCAACGAGGGGCTGAC	0.547													10	39					0	0	0	0	A	105194617	G	A	105194617	3	1	184	1	0	0	0	0	1	0	0	0	11688	1059	37	1	3824	1	PDCD11	10	105194617	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2303206	105194617	30340130	306	32418											
COL17A1	1308	broad.mit.edu	37	chr10	105819884	105819884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatctgacgcacttgcagcGatgctggcaggggaggctgt	7	8	17	9	2	1	1	0	1	1	0	1	4	1	3	0	5	3	5	0	5	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:105819884G>A	ENST00000353479.5	-	14	1424	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	COL17A1_ENST00000393211.3_Silent_p.I378I|COL17A1_ENST00000369733.3_Silent_p.I378I	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	378	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CACTTGCAGCGATGCTGGCAG	0.517													9	67					0	0	0	0	A	105819884	G	A	105819884	2	1	184	1	0	0	0	0	0	0	0	1	3704	1048	37	1		1	COL17A1	10	105819884	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	625267	105819884	29714863	307	32419											
ABLIM1	3983	broad.mit.edu	37	chr10	116213165	116213165	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggaaatgtttaggggcctGagcgtaagttggagttagag	11	11	16	3	1	0	2	0	1	0	1	0	4	0	4	1	4	1	4	1	4	4	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:116213165G>A	ENST00000369252.4	-	13	1640	c.1339C>T	c.(1339-1341)Cag>Tag	p.Q447*	ABLIM1_ENST00000277895.5_Nonsense_Mutation_p.Q507*|ABLIM1_ENST00000392952.3_Intron|ABLIM1_ENST00000533213.2_Nonsense_Mutation_p.Q447*|ABLIM1_ENST00000369253.2_Intron|ABLIM1_ENST00000369266.3_Intron	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	507					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TTAGGGGCCTGAGCGTAAGTT	0.532													6	54					0	0	0	0	A	116213165	G	A	116213165	4	1	184	1	0	0	0	0	0	1	0	0	94	1299	45	2	857	2	ABLIM1	10	116213165	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	10393281	116213165	19321582	308	32420											
ATRNL1	26033	broad.mit.edu	37	chr10	117059722	117059722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagctaatccttgtacatCtatggcaaatggccttgtct	12	13	7	9	0	2	0	0	0	2	0	3	0	3	0	2	2	2	3	2	2	6	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:117059722C>T	ENST00000355044.3	+	16	2720	c.2594C>T	c.(2593-2595)tCt>tTt	p.S865F		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	865	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCTTGTACATCTATGGCAAAT	0.433													11	33					0	0	0	0	T	117059722	C	T	117059722	3	4	184	1	0	0	0	0	1	0	0	0	1211	913	32	2	2656	2	ATRNL1	10	117059722	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	846557	117059722	18475025	309	32421											
EIF3A	8661	broad.mit.edu	37	chr10	120801689	120801689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccaaggtcctcgatcatCatccaaccctcgcctgggac	8	8	7	18	2	2	0	2	0	0	0	7	2	5	1	6	2	1	0	6	2	2	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:120801689C>T	ENST00000369144.3	-	19	3470	c.3343G>A	c.(3343-3345)Gat>Aat	p.D1115N	EIF3A_ENST00000541549.1_Missense_Mutation_p.D1081N|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1115	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCTCGATCATCATCCAACCCT	0.602													25	131					0	0	0	0	T	120801689	C	T	120801689	3	4	184	1	0	0	0	0	1	0	0	0	5048	826	29	2	821	2	EIF3A	10	120801689	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3741967	120801689	14733058	310	32422											
TACC2	10579	broad.mit.edu	37	chr10	123844325	123844325	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggccggcgtgtgatgcgtcGagacaggaatttcatgctgg	7	9	17	8	4	1	2	1	1	0	1	2	4	1	3	1	4	2	1	1	4	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:123844325G>C	ENST00000369005.1	+	4	2650	c.2310G>C	c.(2308-2310)tcG>tcC	p.S770S	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.S770S|TACC2_ENST00000515603.1_Silent_p.S770S|TACC2_ENST00000515273.1_Silent_p.S770S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.S770S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	770						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTGATGCGTCGAGACAGGAAT	0.607													16	79					0	0	0	0	C	123844325	G	C	123844325	2	2	184	1	0	0	0	0	0	0	0	1	15593	1045	37	3		3	TACC2	10	123844325	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3042636	123844325	11690422	311	32423											
CHST15	51363	broad.mit.edu	37	chr10	125805644	125805644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggcacgcctggtgaccgtGatgggggcccccttggcagt	4	7	18	12	2	0	2	0	2	0	0	0	2	0	2	4	6	0	2	4	6	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:125805644G>A	ENST00000346248.5	-	2	727	c.85C>T	c.(85-87)Cac>Tac	p.H29Y	CHST15_ENST00000421115.1_Missense_Mutation_p.H29Y|CHST15_ENST00000435907.1_Missense_Mutation_p.H29Y|CHST15_ENST00000462406.1_5'UTR	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	29					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGGTGACCGTGATGGGGGCCC	0.547													9	62					0	0	0	0	A	125805644	G	A	125805644	3	1	184	1	0	0	0	0	1	0	0	0	3432	1290	45	2	1628	2	CHST15	10	125805644	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1961319	125805644	9729103	312	32424											
PHRF1	57661	broad.mit.edu	37	chr11	587351	587351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggctctttcaattctgatGatgatgcagagagctgccca	9	12	10	10	0	3	4	1	3	2	1	3	5	3	4	1	1	3	3	1	1	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:587351G>A	ENST00000264555.5	+	4	435	c.307G>A	c.(307-309)Gat>Aat	p.D103N	PHRF1_ENST00000416188.2_Missense_Mutation_p.D103N|PHRF1_ENST00000533464.1_Missense_Mutation_p.D99N|PHRF1_ENST00000413872.2_Missense_Mutation_p.D102N	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	103							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAATTCTGATGATGATGCAGA	0.557													10	36					0	0	0	0	A	587351	G	A	587351	3	1	184	1	0	0	0	0	1	0	0	0	11933	1290	45	2	317	2	PHRF1	11	587351	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08		587351	134419165	313	32425											
PHRF1	57661	broad.mit.edu	37	chr11	587453	587453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcctggactgcattgtcGaatggtccaaggtgagttca	8	12	12	9	1	2	1	1	1	1	0	4	3	3	2	2	3	2	2	2	3	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:587453G>A	ENST00000264555.5	+	4	537	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	PHRF1_ENST00000416188.2_Missense_Mutation_p.E137K|PHRF1_ENST00000533464.1_Missense_Mutation_p.E133K|PHRF1_ENST00000413872.2_Missense_Mutation_p.E136K	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	137							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTGCATTGTCGAATGGTCCAA	0.562													9	54					0	0	0	0	A	587453	G	A	587453	3	1	184	1	0	0	0	0	1	0	0	0	11933	1059	37	1	419	1	PHRF1	11	587453	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	102	587453	134419063	314	32426											
TRPM5	29850	broad.mit.edu	37	chr11	2433448	2433448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccacatacagtgtgaacttCttcaccaggtgtgtgtcctc	8	12	8	13	0	2	1	1	1	1	0	4	1	3	1	3	1	2	0	3	1	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:2433448C>T	ENST00000452833.1	-	16	2405	c.2397G>A	c.(2395-2397)aaG>aaA	p.K799K	TRPM5_ENST00000155858.6_Silent_p.K797K|TRPM5_ENST00000528453.1_Silent_p.K797K|TRPM5_ENST00000533060.1_Silent_p.K797K			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	797						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGTGAACTTCTTCACCAGGT	0.597													29	104					0	0	0	0	T	2433448	C	T	2433448	2	4	184	1	0	0	0	0	0	0	0	1	16684	912	32	2		2	TRPM5	11	2433448	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1845995	2433448	132573068	315	32427											
RPS13	6207	broad.mit.edu	37	chr11	17098993	17098993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tacagtggggacgctgcgtcGatagggtaaagccgactggg	9	7	17	8	4	0	0	0	0	0	0	1	3	0	1	1	4	3	2	1	4	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:17098993G>C	ENST00000525634.1	-	2	200	c.55C>G	c.(55-57)Cga>Gga	p.R19G	RPS13_ENST00000228140.2_Missense_Mutation_p.R19G|RPS13_ENST00000526895.1_5'UTR			P62277	RS13_HUMAN	ribosomal protein S13	19					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						ACGCTGCGTCGATAGGGTAAA	0.632													6	22					0	0	0	0	C	17098993	G	C	17098993	3	2	184	1	0	0	0	0	1	0	0	0	13708	1066	37	3	420	3	RPS13	11	17098993	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	14665545	17098993	117907523	316	32428											
USH1C	10083	broad.mit.edu	37	chr11	17531001	17531001	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccactggattgcctgtgtCcccagtgcggaagggatggt	6	10	14	11	1	0	0	0	0	0	0	2	3	2	3	4	4	2	0	4	4	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:17531001C>G	ENST00000005226.7	-	18	1914	c.1915G>C	c.(1915-1917)Gac>Cac	p.D639H	USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTGCCTGTGTCCCCAGTGCGG	0.632													12	61					0	0	0	0	G	17531001	C	G	17531001	3	3	184	1	0	0	0	0	1	0	0	0	17130	855	30	2	824	2	USH1C	11	17531001	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	432008	17531001	117475515	317	32429											
AMBRA1	55626	broad.mit.edu	37	chr11	46564069	46564069	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagcgtctcaggtcacactGaagctcatggcgaatgctgc	10	8	12	11	2	3	1	3	1	1	0	4	3	3	1	0	2	4	2	0	2	3	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:46564069G>A	ENST00000458649.2	-	7	1916	c.1498C>T	c.(1498-1500)Cag>Tag	p.Q500*	AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Q500*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Q500*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Q500*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Q410*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Q500*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Q410*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	500					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGGTCACACTGAAGCTCATGG	0.567													15	67					0	0	0	0	A	46564069	G	A	46564069	4	1	184	1	0	0	0	0	0	1	0	0	565	1299	45	2	2446	2	AMBRA1	11	46564069	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	29033068	46564069	88442447	318	32430											
AMBRA1	55626	broad.mit.edu	37	chr11	46564092	46564092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctcatggcgaatgctgcccGagttgttttggctggagcca	6	11	14	10	2	1	0	1	0	0	0	1	3	1	1	2	3	3	5	2	3	1	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:46564092G>C	ENST00000458649.2	-	7	1893	c.1475C>G	c.(1474-1476)tCg>tGg	p.S492W	AMBRA1_ENST00000534300.1_Missense_Mutation_p.S492W|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S492W|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S492W|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S402W|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S492W|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S402W			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	492					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AATGCTGCCCGAGTTGTTTTG	0.562													15	72					0	0	0	0	C	46564092	G	C	46564092	3	2	184	1	0	0	0	0	1	0	0	0	565	1059	37	3	2469	3	AMBRA1	11	46564092	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	23	46564092	88442424	319	32431											
GIF	2694	broad.mit.edu	37	chr11	59604756	59604756	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcccctgcttaatctcattGagtatcatatccgtagtctt	8	17	5	11	1	3	1	2	1	2	0	6	1	5	1	3	0	1	3	3	0	4	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:59604756G>C	ENST00000541311.1	-	6	921	c.687C>G	c.(685-687)ctC>ctG	p.L229L	GIF_ENST00000257248.2_Silent_p.L254L			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	254					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TAATCTCATTGAGTATCATAT	0.463													13	53					0	0	0	0	C	59604756	G	C	59604756	2	2	184	1	0	0	0	0	0	0	0	1	6427	1277	45	2		2	GIF	11	59604756	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	13040664	59604756	75401760	320	32432											
MS4A6E	245802	broad.mit.edu	37	chr11	60107353	60107353	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcagggaactctgtctctGatgctggtttctactgtgtt	5	18	10	8	0	4	1	1	1	3	0	5	2	4	2	0	2	3	3	0	2	2	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:60107353G>C	ENST00000300182.4	+	3	434	c.369G>C	c.(367-369)ctG>ctC	p.L123L		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	123						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						CTCTGTCTCTGATGCTGGTTT	0.483													27	173					0	0	0	0	C	60107353	G	C	60107353	2	2	184	1	0	0	0	0	0	0	0	1	9935	1277	45	2		2	MS4A6E	11	60107353	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	502597	60107353	74899163	321	32433											
SLC25A45	283130	broad.mit.edu	37	chr11	65147398	65147398	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccggtaggtggtctgggtCtgcagcctcacctgggtggg	3	9	17	12	1	3	0	1	0	2	0	3	0	3	0	4	6	2	2	4	6	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:65147398C>G	ENST00000398802.1	-	4	296	c.93G>C	c.(91-93)caG>caC	p.Q31H	SLC25A45_ENST00000526432.1_Missense_Mutation_p.Q31H|SLC25A45_ENST00000360662.3_Intron|SLC25A45_ENST00000417511.2_5'UTR|SLC25A45_ENST00000294187.6_5'UTR|SLC25A45_ENST00000377152.2_5'UTR|SLC25A45_ENST00000534028.1_Intron|SLC25A45_ENST00000527174.1_Missense_Mutation_p.Q31H	NM_182556.2	NP_872362.2	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	31					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TGGTCTGGGTCTGCAGCCTCA	0.632													6	38					0	0	0	0	G	65147398	C	G	65147398	3	3	184	1	0	0	0	0	1	0	0	0	14598	912	32	2	789	2	SLC25A45	11	65147398	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	5040045	65147398	69859118	322	32434											
CTSW	1521	broad.mit.edu	37	chr11	65649791	65649791	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccagcgccatctcacccatCaaggaccaggtatctgccgc	9	6	9	17	2	3	0	2	0	2	0	4	1	3	1	5	2	2	1	5	2	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:65649791C>T	ENST00000528419.1	+	4	436	c.432C>T	c.(430-432)atC>atT	p.I144I	CTSW_ENST00000307886.3_Silent_p.I144I			P56202	CATW_HUMAN	cathepsin W	144					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		TCTCACCCATCAAGGACCAGG	0.612													10	45					0	0	0	0	T	65649791	C	T	65649791	2	4	184	1	0	0	0	0	0	0	0	1	4074	816	29	2		2	CTSW	11	65649791	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	502393	65649791	69356725	323	32435											
CTSW	1521	broad.mit.edu	37	chr11	65650706	65650706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctataccggaaaggtgtgatCaaggccacacccaccacctg	12	6	9	14	1	1	1	1	1	0	0	1	2	1	2	5	3	1	0	5	3	4	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:65650706C>G	ENST00000528419.1	+	9	835	c.831C>G	c.(829-831)atC>atG	p.I277M	CTSW_ENST00000307886.3_Missense_Mutation_p.I277M			P56202	CATW_HUMAN	cathepsin W	277					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		AAGGTGTGATCAAGGCCACAC	0.617													17	71					0	0	0	0	G	65650706	C	G	65650706	3	3	184	1	0	0	0	0	1	0	0	0	4074	816	29	2	865	2	CTSW	11	65650706	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	915	65650706	69355810	324	32436											
GPR152	390212	broad.mit.edu	37	chr11	67220094	67220094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagcagggccaccaggaaGaccgtgtcccagccaccttg	10	4	12	15	1	0	1	0	0	0	1	1	2	1	2	6	2	3	2	6	2	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:67220094G>A	ENST00000312457.2	-	1	106	c.102C>T	c.(100-102)gtC>gtT	p.V34V	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_5'UTR	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	34						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCACCAGGAAGACCGTGTCCC	0.667													6	14					0	0	0	0	A	67220094	G	A	67220094	2	1	184	1	0	0	0	0	0	0	0	1	6707	929	33	2		2	GPR152	11	67220094	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1569388	67220094	67786422	325	32437											
TBX10	347853	broad.mit.edu	37	chr11	67399081	67399081	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcttctggcatcactGggagtcctggccaggcccca	6	7	13	15	0	2	0	1	0	1	0	3	1	3	1	5	5	0	2	5	5	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:67399081G>A	ENST00000335385.3	-	8	1240	c.1153C>T	c.(1153-1155)Cag>Tag	p.Q385*		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	385					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TGGCATCACTGGGAGTCCTGG	0.672													4	9					0	0	0	0	A	67399081	G	A	67399081	4	1	184	1	0	0	0	0	0	1	0	0	15745	1357	47	4	8	4	TBX10	11	67399081	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	178987	67399081	67607435	326	32438											
DNAJB13	374407	broad.mit.edu	37	chr11	73675980	73675980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctttggggggctccagggccGaggggtcaagaagcaggacc	8	5	18	10	1	1	1	1	0	0	1	2	3	2	2	3	7	1	2	3	7	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:73675980G>C	ENST00000339764.1	+	4	1143	c.392G>C	c.(391-393)cGa>cCa	p.R131P	DNAJB13_ENST00000537753.1_5'UTR|RP11-167N4.2_ENST00000537019.1_RNA|RP11-167N4.2_ENST00000540886.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	131					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CTCCAGGGCCGAGGGGTCAAG	0.498											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	61					0	0	0	0	C	73675980	G	C	73675980	3	2	184	1	0	0	0	0	1	0	0	0	4654	1058	37	3	406	3	DNAJB13	11	73675980	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	6276899	73675980	61330536	327	32439											
ME3	10873	broad.mit.edu	37	chr11	86153891	86153891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caattctcaaagacacgtctCggatggtgctgagtggtggg	9	10	14	8	2	2	2	1	1	2	1	4	3	2	3	0	4	1	1	0	4	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:86153891C>T	ENST00000543262.1	-	14	1951	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q	ME3_ENST00000359636.2_Missense_Mutation_p.R542Q|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.R542Q	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	542					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AGACACGTCTCGGATGGTGCT	0.517													12	68					0	0	0	0	T	86153891	C	T	86153891	3	4	184	1	0	0	0	0	1	0	0	0	9488	884	31	1	197	1	ME3	11	86153891	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	12477911	86153891	48852625	328	32440											
CNTN5	53942	broad.mit.edu	37	chr11	100061931	100061931	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagggaaagtacgtttgcCgaggggaaaacgtctttggt	11	9	15	6	4	1	0	0	0	1	0	1	4	1	2	1	4	3	2	1	4	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:100061931C>T	ENST00000524871.1	+	14	1944	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	CNTN5_ENST00000528682.1_Nonsense_Mutation_p.R552*|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Nonsense_Mutation_p.R552*|CNTN5_ENST00000279463.3_Nonsense_Mutation_p.R552*|CNTN5_ENST00000418526.2_Nonsense_Mutation_p.R478*	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	552	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GTACGTTTGCCGAGGGGAAAA	0.393													10	36					0	0	0	0	T	100061931	C	T	100061931	4	4	184	1	0	0	0	0	0	1	0	0	3674	644	23	1	1700	1	CNTN5	11	100061931	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	13908040	100061931	34944585	329	32441											
ATM	472	broad.mit.edu	37	chr11	108106437	108106437	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagaactcttaaattatatCatggatacagtgaaagattc	17	12	6	6	0	2	3	1	1	1	2	3	4	2	4	0	1	2	0	0	1	8	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:108106437C>T	ENST00000278616.4	+	5	757	c.372C>T	c.(370-372)atC>atT	p.I124I	ATM_ENST00000452508.2_Silent_p.I124I	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	124					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TAAATTATATCATGGATACAG	0.313			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			15	42					0	0	0	0	T	108106437	C	T	108106437	2	4	184	1	0	0	0	0	0	0	0	1	1113	816	29	2		2	ATM	11	108106437	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	8044506	108106437	26900079	330	32442											
PPP2R1B	5519	broad.mit.edu	37	chr11	111636039	111636039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtaagaaatggcaacaattCacttcgggtcctttctactc	11	13	7	10	1	2	1	1	0	1	1	5	1	3	1	1	2	2	2	1	2	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:111636039C>T	ENST00000527614.1	-	2	249	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E62K|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.E62K|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.E62K	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	62							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GGCAACAATTCACTTCGGGTC	0.363													11	82					0	0	0	0	T	111636039	C	T	111636039	3	4	184	1	0	0	0	0	1	0	0	0	12459	835	29	2	1900	2	PPP2R1B	11	111636039	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3529602	111636039	23370477	331	32443											
BCO2	83875	broad.mit.edu	37	chr11	112071361	112071361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaggaactatataattttCattgaacaacctctaaagat	18	12	4	7	0	2	2	1	1	1	1	2	3	2	3	1	1	3	0	1	1	9	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:112071361C>T	ENST00000357685.5	+	7	1026	c.891C>T	c.(889-891)ttC>ttT	p.F297F	BCO2_ENST00000393032.2_Silent_p.F263F|BCO2_ENST00000361053.4_Silent_p.F224F|BCO2_ENST00000438022.1_Silent_p.F263F|BCO2_ENST00000532593.1_Silent_p.F192F|BCO2_ENST00000526088.1_Silent_p.F263F|SDHD_ENST00000532612.1_3'UTR|BCO2_ENST00000531169.1_Silent_p.F263F			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	297					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ATATAATTTTCATTGAACAAC	0.383													13	57					0	0	0	0	T	112071361	C	T	112071361	2	4	184	1	0	0	0	0	0	0	0	1	1389	825	29	2		2	BCO2	11	112071361	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	435322	112071361	22935155	332	32444											
DDX6	1656	broad.mit.edu	37	chr11	118633977	118633977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctactcctttcttaataaGatccaggattctcccagggg	9	13	8	11	0	2	1	0	0	2	1	5	2	4	2	3	3	2	1	3	3	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:118633977G>T	ENST00000264018.4	-	7	990	c.685C>A	c.(685-687)Ctt>Att	p.L229I	DDX6_ENST00000534980.1_Missense_Mutation_p.L229I|DDX6_ENST00000526070.2_Missense_Mutation_p.L229I	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	229	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TTCTTAATAAGATCCAGGATT	0.368			T	IGH@	B-NHL								17	121					1.67942e-08	1.77286e-08	1	0	T	118633977	G	T	118633977	3	4	184	1	0	0	0	0	1	0	0	0	4409	942	33	2	794	2	DDX6	11	118633977	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	6562616	118633977	16372539	333	32445											
NTM	50863	broad.mit.edu	37	chr11	131781512	131781512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagctatggacaacgtgaCggtccggcagggggagagcg	11	4	17	9	4	0	2	0	1	0	1	1	4	1	3	1	5	3	2	1	5	3	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:131781512C>T	ENST00000374786.1	+	1	616	c.137C>T	c.(136-138)aCg>aTg	p.T46M	NTM_ENST00000425719.2_Missense_Mutation_p.T46M|NTM_ENST00000427481.2_Missense_Mutation_p.T37M|NTM_ENST00000374791.3_Missense_Mutation_p.T46M|NTM_ENST00000539799.1_Missense_Mutation_p.T46M|NTM_ENST00000374784.1_Missense_Mutation_p.T46M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	46	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GACAACGTGACGGTCCGGCAG	0.617											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	84					0	0	0	0	T	131781512	C	T	131781512	3	4	184	1	0	0	0	0	1	0	0	0	10770	536	19	1	225	1	NTM	11	131781512	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	13147535	131781512	3225004	334	32446											
WNK1	65125	broad.mit.edu	37	chr12	996423	996423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaacttccagcaggtactCtacccagcgagcagctgcca	10	7	9	15	1	1	1	0	1	1	0	2	2	2	1	3	1	8	4	3	1	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:996423C>T	ENST00000537687.1	+	20	6740	c.6097C>T	c.(6097-6099)Cta>Tta	p.L2033L	WNK1_ENST00000340908.4_Silent_p.L1366L|WNK1_ENST00000535572.1_Silent_p.L1526L|WNK1_ENST00000530271.2_Silent_p.L2271L|WNK1_ENST00000315939.6_Silent_p.L1773L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1773					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGCAGGTACTCTACCCAGCGA	0.483													16	102					0	0	0	0	T	996423	C	T	996423	2	4	184	1	0	0	0	0	0	0	0	1	17473	912	32	2		2	WNK1	12	996423	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08		996423	132855472	335	32447											
DYRK4	8798	broad.mit.edu	37	chr12	4721834	4721834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccaattcctttttcccctCtgagacaaggaaggacaagg	12	10	8	11	0	1	1	0	1	1	1	4	4	4	3	4	3	0	0	4	3	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:4721834C>T	ENST00000540757.2	+	12	1431	c.1271C>T	c.(1270-1272)tCt>tTt	p.S424F	DYRK4_ENST00000543431.1_Missense_Mutation_p.S424F|DYRK4_ENST00000010132.5_Missense_Mutation_p.S424F|DYRK4_ENST00000545342.1_Missense_Mutation_p.S61F	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	424						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTTTTCCCCTCTGAGACAAGG	0.522													17	102					0	0	0	0	T	4721834	C	T	4721834	3	4	184	1	0	0	0	0	1	0	0	0	4894	913	32	2	1309	2	DYRK4	12	4721834	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3725411	4721834	129130061	336	32448											
USP5	8078	broad.mit.edu	37	chr12	6966015	6966015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccgagagacaggctacccGttagctgtcaagctgggcac	10	7	12	12	2	1	1	1	0	0	1	1	3	1	1	2	2	4	5	2	2	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:6966015G>A	ENST00000229268.8	+	6	781	c.729G>A	c.(727-729)ccG>ccA	p.P243P	USP5_ENST00000389231.5_Silent_p.P243P	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	243					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CAGGCTACCCGTTAGCTGTCA	0.537													9	48					0	0	0	0	A	6966015	G	A	6966015	2	1	184	1	0	0	0	0	0	0	0	1	17177	1132	40	1		1	USP5	12	6966015	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2244181	6966015	126885880	337	32449											
C1S	716	broad.mit.edu	37	chr12	7169796	7169796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtgcattgtcctgttttCacttttggcatgggtttatg	5	18	11	7	0	1	0	1	0	0	0	2	0	2	0	1	3	1	4	1	3	1	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:7169796C>T	ENST00000406697.1	+	6	651	c.23C>T	c.(22-24)tCa>tTa	p.S8L	C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Missense_Mutation_p.S8L|C1S_ENST00000328916.3_Missense_Mutation_p.S8L			P09871	C1S_HUMAN	complement component 1, s subcomponent	8					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)	GTCCTGTTTTCACTTTTGGCA	0.502													9	69					0	0	0	0	T	7169796	C	T	7169796	3	4	184	1	0	0	0	0	1	0	0	0	1993	838	29	2	29	2	C1S	12	7169796	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	203781	7169796	126682099	338	32450											
TAS2R50	259296	broad.mit.edu	37	chr12	11138872	11138872	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagagaacagattagcatCagaaaagatatcagggacag	19	5	10	7	0	2	4	2	0	0	4	2	6	2	5	0	1	2	1	0	1	5	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:11138872C>T	ENST00000506868.1	-	1	639	c.588G>A	c.(586-588)ctG>ctA	p.L196L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	196					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						AGATTAGCATCAGAAAAGATA	0.408													23	132					0	0	0	0	T	11138872	C	T	11138872	2	4	184	1	0	0	0	0	0	0	0	1	15675	813	29	2		2	TAS2R50	12	11138872	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3969076	11138872	122713023	339	32451											
PRB3	5544	broad.mit.edu	37	chr12	11420963	11420963	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttctggctttcctggacGaggtgggggaccttgggact	4	12	15	10	1	1	0	0	0	1	0	3	4	3	3	3	6	0	1	3	6	0	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:11420963G>A	ENST00000381842.3	-	0	257				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCTGGACGAGGTGGGGGA	0.627													49	385					0	0	0	0	A	11420963	G	A	11420963	1	1	184	0	1	0	0	0	0	0	0	0	12524	1058	37	1		1	PRB3	12	11420963	RNA	SNP	G	TCGA-CR-6481-01A-11D-1870-08	282091	11420963	122430932	340	32452											
ETV6	2120	broad.mit.edu	37	chr12	12043951	12043951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagagtcccaggagctggatGaacaaatataccaagaagat	17	7	10	7	0	0	4	0	1	0	3	1	6	1	6	2	2	3	1	2	2	7	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:12043951G>A	ENST00000396373.4	+	8	1604	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	444						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GGAGCTGGATGAACAAATATA	0.527			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								31	145					0	0	0	0	A	12043951	G	A	12043951	3	1	184	1	0	0	0	0	1	0	0	0	5321	1291	45	2	1360	2	ETV6	12	12043951	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	622988	12043951	121807944	341	32453											
DUSP16	80824	broad.mit.edu	37	chr12	12629840	12629840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttccccagctcttcccgtGacctgttctctgacatgatg	5	14	7	15	1	2	3	0	3	2	0	5	3	4	3	4	0	1	2	4	0	0	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:12629840G>A	ENST00000228862.2	-	7	2556	c.1925C>T	c.(1924-1926)tCa>tTa	p.S642L	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	642					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTCTTCCCGTGACCTGTTCTC	0.498													36	205					0	0	0	0	A	12629840	G	A	12629840	3	1	184	1	0	0	0	0	1	0	0	0	4852	1294	45	2	76	2	DUSP16	12	12629840	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	585889	12629840	121222055	342	32454											
ERP27	121506	broad.mit.edu	37	chr12	15090892	15090892	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtagggaactaacctggaaGaagcctatgacagccacctc	14	6	10	11	0	0	2	0	1	0	1	1	4	0	4	4	2	4	1	4	2	6	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:15090892G>C	ENST00000266397.2	-	2	762	c.189C>G	c.(187-189)ttC>ttG	p.F63L		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	63	Thioredoxin.					endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TAACCTGGAAGAAGCCTATGA	0.547													15	118					0	0	0	0	C	15090892	G	C	15090892	3	2	184	1	0	0	0	0	1	0	0	0	5279	933	33	2	656	2	ERP27	12	15090892	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2461052	15090892	118761003	343	32455											
ABCC9	10060	broad.mit.edu	37	chr12	22069956	22069956	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgcagaaacgcaggtttGatatgtccaagccagactga	13	9	11	8	1	0	5	0	3	0	2	1	5	1	5	2	1	3	3	2	1	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:22069956G>C	ENST00000261200.4	-	4	487	c.488C>G	c.(487-489)tCa>tGa	p.S163*	ABCC9_ENST00000261201.4_Nonsense_Mutation_p.S163*|ABCC9_ENST00000345162.2_Nonsense_Mutation_p.S163*	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	163					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACGCAGGTTTGATATGTCCAA	0.418													33	187					0	0	0	0	C	22069956	G	C	22069956	4	2	184	1	0	0	0	0	0	1	0	0	59	1294	45	2	4443	2	ABCC9	12	22069956	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	6979064	22069956	111781939	344	32456											
CAPRIN2	65981	broad.mit.edu	37	chr12	30876222	30876222	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttgaagaaaatcactttGactggacagattttgttctt	11	16	7	7	0	3	4	1	2	2	2	3	5	3	5	0	1	0	1	0	1	3	6	rs79465544		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:30876222G>A	ENST00000251071.5	-	11	2764	c.2014C>T	c.(2014-2016)Caa>Taa	p.Q672*	CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.Q672*|CAPRIN2_ENST00000395805.2_Nonsense_Mutation_p.Q672*|CAPRIN2_ENST00000308433.5_Nonsense_Mutation_p.Q339*|CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.Q672*	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	672					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAATCACTTTGACTGGACAGA	0.358													7	71					0	0	0	0	A	30876222	G	A	30876222	4	1	184	1	0	0	0	0	0	1	0	0	2661	1299	45	2	1401	2	CAPRIN2	12	30876222	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	8806266	30876222	102975673	345	32457											
DNM1L	10059	broad.mit.edu	37	chr12	32873662	32873662	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgtgatgagtatgcttttCttcaaaagaaatatccatct	12	15	6	8	1	3	3	1	2	2	1	5	3	5	3	2	0	1	2	2	0	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:32873662C>G	ENST00000452533.2	+	8	969	c.805C>G	c.(805-807)Ctt>Gtt	p.L269V	DNM1L_ENST00000414834.2_Missense_Mutation_p.L66V|DNM1L_ENST00000549701.1_Missense_Mutation_p.L269V|DNM1L_ENST00000553257.1_Missense_Mutation_p.L282V|DNM1L_ENST00000547312.1_Missense_Mutation_p.L269V|DNM1L_ENST00000381000.4_Missense_Mutation_p.L282V|DNM1L_ENST00000266481.6_Missense_Mutation_p.L269V|DNM1L_ENST00000358214.5_Missense_Mutation_p.L282V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	269	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTATGCTTTTCTTCAAAAGAA	0.343													11	61					0	0	0	0	G	32873662	C	G	32873662	3	3	184	1	0	0	0	0	1	0	0	0	4707	913	32	2	835	2	DNM1L	12	32873662	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1997440	32873662	100978233	346	32458											
ABCD2	225	broad.mit.edu	37	chr12	39967597	39967597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatatctttccttcgacatCaatgctgacagcactggtac	12	12	6	11	1	2	1	1	1	1	0	4	2	3	1	1	1	3	3	1	1	4	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:39967597C>T	ENST00000308666.3	-	9	2059	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	642	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CCTTCGACATCAATGCTGACA	0.353													7	71					0	0	0	0	T	39967597	C	T	39967597	3	4	184	1	0	0	0	0	1	0	0	0	61	826	29	2	306	2	ABCD2	12	39967597	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	7093935	39967597	93884298	347	32459											
ADAMTS20	80070	broad.mit.edu	37	chr12	43846363	43846363	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattagagggaatgccactGatgtccaaatgtttaccatt	13	12	8	8	0	0	2	0	1	0	1	1	3	1	3	3	1	2	1	3	1	4	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:43846363G>A	ENST00000389420.3	-	13	1895	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	ADAMTS20_ENST00000553158.1_Silent_p.I632I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	632	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GAATGCCACTGATGTCCAAAT	0.388													7	36					0	0	0	0	A	43846363	G	A	43846363	2	1	184	1	0	0	0	0	0	0	0	1	266	1280	45	2		2	ADAMTS20	12	43846363	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3878766	43846363	90005532	348	32460											
HDAC7	51564	broad.mit.edu	37	chr12	48179624	48179624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaggccagcaccactgCgcctcctgccaggttcatca	8	7	8	18	1	2	0	2	0	0	0	4	0	4	0	6	2	3	2	6	2	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:48179624C>T	ENST00000080059.7	-	23	2616	c.2617G>A	c.(2617-2619)Gca>Aca	p.A873T	AC004466.1_ENST00000599515.1_3'UTR|HDAC7_ENST00000354334.3_Missense_Mutation_p.A836T|HDAC7_ENST00000380610.4_Missense_Mutation_p.A890T|HDAC7_ENST00000427332.2_Missense_Mutation_p.A834T|HDAC7_ENST00000552960.1_Missense_Mutation_p.A856T	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	834					negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		AGCACCACTGCGCCTCCTGCC	0.602													7	37					0	0	0	0	T	48179624	C	T	48179624	3	4	184	1	0	0	0	0	1	0	0	0	7062	768	27	1	374	1	HDAC7	12	48179624	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	4333261	48179624	85672271	349	32461											
DNAJC22	79962	broad.mit.edu	37	chr12	49742881	49742881	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagaggggtgacaccccctCtgagtcccattcgctttgct	6	10	10	15	1	1	3	0	2	1	1	3	3	2	3	4	2	1	2	4	2	0	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:49742881C>G	ENST00000549441.2	+	3	1430	c.226C>G	c.(226-228)Ctg>Gtg	p.L76V	DNAJC22_ENST00000395069.3_Missense_Mutation_p.L76V			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GACACCCCCTCTGAGTCCCAT	0.557													18	123					0	0	0	0	G	49742881	C	G	49742881	3	3	184	1	0	0	0	0	1	0	0	0	4677	912	32	2	228	2	DNAJC22	12	49742881	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1563257	49742881	84109014	350	32462											
KCNH3	23416	broad.mit.edu	37	chr12	49944103	49944103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagggtggcaccgtgctcGccatcctaggtttgtgaggg	6	10	15	10	2	1	1	1	1	0	0	3	1	2	1	3	4	1	3	3	4	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:49944103G>A	ENST00000257981.6	+	10	2169	c.1909G>A	c.(1909-1911)Gcc>Acc	p.A637T		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	637					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CACCGTGCTCGCCATCCTAGG	0.622													10	56					0	0	0	0	A	49944103	G	A	49944103	3	1	184	1	0	0	0	0	1	0	0	0	8086	1087	38	1	1947	1	KCNH3	12	49944103	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	201222	49944103	83907792	351	32463											
TMBIM6	7009	broad.mit.edu	37	chr12	50152485	50152485	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtatcttgatgtcagccctGagcttgttgcttttgtcttc	4	18	10	9	0	3	2	1	2	2	0	4	2	3	2	1	1	3	4	1	1	1	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:50152485G>A	ENST00000423828.1	+	7	955	c.627G>A	c.(625-627)ctG>ctA	p.L209L	TMBIM6_ENST00000552699.1_Silent_p.L209L|TMBIM6_ENST00000267115.5_Silent_p.L151L|TMBIM6_ENST00000395006.4_Silent_p.L151L|TMBIM6_ENST00000549385.1_Silent_p.L151L|TMBIM6_ENST00000547798.1_Silent_p.L114L	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	151					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTCAGCCCTGAGCTTGTTGC	0.443													21	79					0	0	0	0	A	50152485	G	A	50152485	2	1	184	1	0	0	0	0	0	0	0	1	16077	1277	45	2		2	TMBIM6	12	50152485	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	208382	50152485	83699410	352	32464											
TARBP2	6895	broad.mit.edu	37	chr12	53895890	53895890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagggaagacgcctgtgtacGaccttctcaaagccgagggc	10	7	13	11	3	1	1	1	0	1	1	2	4	1	2	3	2	2	1	3	2	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:53895890G>A	ENST00000266987.2	+	2	628	c.145G>A	c.(145-147)Gac>Aac	p.D49N	TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000456234.2_Missense_Mutation_p.D28N|TARBP2_ENST00000394357.2_Missense_Mutation_p.D28N|TARBP2_ENST00000549028.1_3'UTR	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	49	DRBM 1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						GCCTGTGTACGACCTTCTCAA	0.592													13	55					0	0	0	0	A	53895890	G	A	53895890	3	1	184	1	0	0	0	0	1	0	0	0	15647	1058	37	1	151	1	TARBP2	12	53895890	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3743405	53895890	79956005	353	32465											
STAT2	6773	broad.mit.edu	37	chr12	56737683	56737683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcactggctgtgatacaggtCcttggtctggctctggcact	5	12	13	11	0	2	1	0	1	2	0	3	1	3	1	1	5	1	4	1	5	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:56737683C>T	ENST00000314128.4	-	23	2362	c.2339G>A	c.(2338-2340)gGa>gAa	p.G780E	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.G776E			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	780					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGATACAGGTCCTTGGTCTGG	0.517													7	159					0	0	0	0	T	56737683	C	T	56737683	3	4	184	1	0	0	0	0	1	0	0	0	15355	855	30	2	224	2	STAT2	12	56737683	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2841793	56737683	77114212	354	32466											
SLC26A10	65012	broad.mit.edu	37	chr12	58019209	58019209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagctggccagccgatgtcGagatgctaggatccgcctcc	7	7	13	14	3	0	1	0	0	0	1	3	4	2	2	5	2	3	3	5	2	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:58019209G>A	ENST00000320442.4	+	13	1801	c.1490G>A	c.(1489-1491)cGa>cAa	p.R497Q	SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	497	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					AGCCGATGTCGAGATGCTAGG	0.582													8	36					0	0	0	0	A	58019209	G	A	58019209	3	1	184	1	0	0	0	0	1	0	0	0	14603	1058	37	1	1540	1	SLC26A10	12	58019209	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1281526	58019209	75832686	355	32467											
HMGA2	8091	broad.mit.edu	37	chr12	66357047	66357047	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaactgaagagacatcctCacaagagtctgccgaagagg	15	5	12	9	1	2	4	1	1	1	3	3	7	3	5	2	2	2	0	2	2	4	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:66357047C>G	ENST00000403681.2	+	5	1445	c.305C>G	c.(304-306)tCa>tGa	p.S102*		NM_003483.4	NP_003474.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2	102					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		GAGACATCCTCACAAGAGTCT	0.517			T	" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"	"lipoma, leiomyoma, pleiomorphic salivary gland adenoma"								8	39					0	0	0	0	G	66357047	C	G	66357047	4	3	184	1	0	0	0	0	0	1	0	0	7274	838	29	2	399	2	HMGA2	12	66357047	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	8337838	66357047	67494848	356	32468											
THAP2	83591	broad.mit.edu	37	chr12	72068122	72068122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaggacaaactcgacgaCttaaaatggatgctgttcca	15	9	8	9	2	0	0	0	0	0	0	2	4	1	2	1	2	3	2	1	2	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:72068122C>A	ENST00000308086.2	+	2	1712	c.211C>A	c.(211-213)Ctt>Att	p.L71I	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.L47I	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	71						nucleolus	DNA binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						AACTCGACGACTTAAAATGGA	0.368													15	69					2.31682e-05	2.4037e-05	1	0	A	72068122	C	A	72068122	3	1	184	1	0	0	0	0	1	0	0	0	15938	565	20	4	217	4	THAP2	12	72068122	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	5711075	72068122	61783773	357	32469											
TPH2	121278	broad.mit.edu	37	chr12	72335507	72335507	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtaaaagcactgaggctCtttcaggtgaatgtgaaata	13	12	11	5	0	2	3	1	3	1	0	2	3	2	3	0	3	1	3	0	3	5	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:72335507C>G	ENST00000333850.3	+	2	390	c.249C>G	c.(247-249)ctC>ctG	p.L83L	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	83	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CACTGAGGCTCTTTCAGGTGA	0.403													9	94					0	0	0	0	G	72335507	C	G	72335507	2	3	184	1	0	0	0	0	0	0	0	1	16497	900	32	2		2	TPH2	12	72335507	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	267385	72335507	61516388	358	32470											
KCNC2	3747	broad.mit.edu	37	chr12	75437009	75437009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctatgttgtttaagcttcggGatttttcatatccttttatg	7	21	7	6	1	1	0	1	0	0	0	3	1	2	1	1	1	1	3	1	1	4	10			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:75437009G>A	ENST00000549446.1	-	5	2473	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000548513.1_Intron|RP11-81K13.1_ENST00000547040.1_RNA|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000550433.1_Intron|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000540018.1_Missense_Mutation_p.S543F|KCNC2_ENST00000298972.1_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	598					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TAAGCTTCGGGATTTTTCATA	0.433													5	42					0	0	0	0	A	75437009	G	A	75437009	3	1	184	1	0	0	0	0	1	0	0	0	8068	1174	41	2	193	2	KCNC2	12	75437009	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3101502	75437009	58414886	359	32471											
HSP90B1	7184	broad.mit.edu	37	chr12	104336982	104336982	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagaggttccagaatgttgCcaaggaaggagtgaagttcg	13	8	15	5	1	0	3	0	1	0	2	2	6	1	5	2	3	1	3	2	3	5	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:104336982C>G	ENST00000299767.5	+	13	1957	c.1775C>G	c.(1774-1776)gCc>gGc	p.A592G		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	592					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CAGAATGTTGCCAAGGAAGGA	0.418													11	68					0	0	0	0	G	104336982	C	G	104336982	3	3	184	1	0	0	0	0	1	0	0	0	7455	739	26	4	1825	4	HSP90B1	12	104336982	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	28899973	104336982	29514913	360	32472											
PWP1	11137	broad.mit.edu	37	chr12	108091362	108091362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttcaaaaaagaagaaaaaGaaaggaaagaaggtaaagaa	26	4	9	2	0	1	5	1	0	0	5	1	6	1	6	0	2	0	1	0	2	12	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:108091362G>C	ENST00000412830.3	+	7	900	c.732G>C	c.(730-732)aaG>aaC	p.K244N	PWP1_ENST00000541166.1_Missense_Mutation_p.K182N	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	244					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						AGAAGAAAAAGAAAGGAAAGA	0.378													11	24					0	0	0	0	C	108091362	G	C	108091362	3	2	184	1	0	0	0	0	1	0	0	0	12925	933	33	2	758	2	PWP1	12	108091362	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3754380	108091362	25760533	361	32473											
TRPV4	59341	broad.mit.edu	37	chr12	110252302	110252302	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgagtccatgggtgctttCttgggcccaggcaccaccga	7	9	13	12	1	1	1	0	1	1	0	2	2	2	1	4	3	1	2	4	3	0	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:110252302C>T	ENST00000418703.2	-	1	394	c.300G>A	c.(298-300)aaG>aaA	p.K100K	TRPV4_ENST00000544971.1_Silent_p.K100K|TRPV4_ENST00000541794.1_Silent_p.K100K|TRPV4_ENST00000537083.1_Silent_p.K100K|TRPV4_ENST00000536838.1_Silent_p.K66K|TRPV4_ENST00000346520.2_Silent_p.K100K|TRPV4_ENST00000392719.2_Silent_p.K100K|TRPV4_ENST00000261740.2_Silent_p.K100K	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	100					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGGGTGCTTTCTTGGGCCCAG	0.552													8	40					0	0	0	0	T	110252302	C	T	110252302	2	4	184	1	0	0	0	0	0	0	0	1	16693	912	32	2		2	TRPV4	12	110252302	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2160940	110252302	23599593	362	32474											
CUX2	23316	broad.mit.edu	37	chr12	111776184	111776184	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctggcacaagctgagcctGaaggggcgggagccttttgt	7	8	15	11	1	0	2	0	2	0	0	0	3	0	3	3	4	3	2	3	4	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:111776184G>A	ENST00000261726.6	+	20	3445	c.3291G>A	c.(3289-3291)ctG>ctA	p.L1097L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1097						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGCTGAGCCTGAAGGGGCGGG	0.592													13	49					0	0	0	0	A	111776184	G	A	111776184	2	1	184	1	0	0	0	0	0	0	0	1	4097	1277	45	2		2	CUX2	12	111776184	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1523882	111776184	22075711	363	32475											
TPCN1	53373	broad.mit.edu	37	chr12	113664628	113664628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatttcaagccctggatatCatatcctgagggccacagga	11	10	9	11	0	2	1	2	1	0	0	3	3	3	3	3	3	1	0	3	3	4	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:113664628C>T	ENST00000550785.1	+	3	356	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	TPCN1_ENST00000541517.1_Missense_Mutation_p.H63Y|TPCN1_ENST00000335509.6_5'UTR	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	0						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCCTGGATATCATATCCTGAG	0.547													6	23					0	0	0	0	T	113664628	C	T	113664628	3	4	184	1	0	0	0	0	1	0	0	0	16490	826	29	2	193	2	TPCN1	12	113664628	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1888444	113664628	20187267	364	32476											
FBXO21	23014	broad.mit.edu	37	chr12	117627050	117627050	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgtgctctgaaaagaacctCtttgagaacgaggctacaat	14	9	9	9	2	2	3	0	2	2	2	2	5	2	3	1	1	4	2	1	1	6	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:117627050C>G	ENST00000427718.2	-	2	431	c.357G>C	c.(355-357)aaG>aaC	p.K119N	FBXO21_ENST00000330622.5_Missense_Mutation_p.K119N	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	119					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		AAAAGAACCTCTTTGAGAACG	0.488													13	85					0	0	0	0	G	117627050	C	G	117627050	3	3	184	1	0	0	0	0	1	0	0	0	5778	912	32	2	1573	2	FBXO21	12	117627050	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3962422	117627050	16224845	365	32477											
KSR2	283455	broad.mit.edu	37	chr12	118405983	118405983	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtctatcatgttttggacCagttcgcactgctgtaaggc	9	13	10	9	1	2	0	1	0	1	0	3	1	2	1	1	2	1	5	1	2	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:118405983C>A	ENST00000339824.5	-	1	805	c.78G>T	c.(76-78)ctG>ctT	p.L26L	KSR2_ENST00000425217.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	26					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTTTTGGACCAGTTCGCACT	0.507													16	170					1.3612e-06	1.4189e-06	1	0	A	118405983	C	A	118405983	2	1	184	1	0	0	0	0	0	0	0	1	8635	609	21	4		4	KSR2	12	118405983	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	778933	118405983	15445912	366	32478											
CIT	11113	broad.mit.edu	37	chr12	120204897	120204897	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaatgtctttactttaatCttttcctcatagtgctgctc	9	18	5	9	0	3	0	1	0	2	0	5	1	4	0	1	0	3	2	1	0	5	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:120204897C>G	ENST00000392521.2	-	19	2353	c.2298G>C	c.(2296-2298)aaG>aaC	p.K766N	CIT_ENST00000261833.7_Missense_Mutation_p.K724N|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	724					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTACTTTAATCTTTTCCTCAT	0.488													30	164					0	0	0	0	G	120204897	C	G	120204897	3	3	184	1	0	0	0	0	1	0	0	0	3468	912	32	2	4031	2	CIT	12	120204897	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1798914	120204897	13646998	367	32479											
SBNO1	55206	broad.mit.edu	37	chr12	123804454	123804454	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagtaaaacataccttatctCcatccataaatcgttgtttt	13	15	3	10	1	1	0	0	0	1	0	4	0	2	0	3	0	2	3	3	0	6	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:123804454C>G	ENST00000420886.2	-	19	2791	c.2792G>C	c.(2791-2793)gGa>gCa	p.G931A	SBNO1_ENST00000267176.4_Missense_Mutation_p.G930A|SBNO1_ENST00000602750.1_Missense_Mutation_p.G930A|SBNO1_ENST00000602398.1_Missense_Mutation_p.G931A	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	931							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TACCTTATCTCCATCCATAAA	0.338													6	41					0	0	0	0	G	123804454	C	G	123804454	3	3	184	1	0	0	0	0	1	0	0	0	13948	855	30	2	1441	2	SBNO1	12	123804454	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3599557	123804454	10047441	368	32480											
SBNO1	55206	broad.mit.edu	37	chr12	123805101	123805101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcatctgctgagccctttCcacagcatcctgacttgtta	7	14	6	14	0	2	2	1	2	1	0	4	2	4	2	3	0	3	3	3	0	1	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:123805101C>T	ENST00000420886.2	-	18	2544	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K	SBNO1_ENST00000267176.4_Missense_Mutation_p.E848K|SBNO1_ENST00000602750.1_Missense_Mutation_p.E848K|SBNO1_ENST00000602398.1_Missense_Mutation_p.E849K	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	849							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGAGCCCTTTCCACAGCATCC	0.383													30	118					0	0	0	0	T	123805101	C	T	123805101	3	4	184	1	0	0	0	0	1	0	0	0	13948	864	30	2	1692	2	SBNO1	12	123805101	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	647	123805101	10046794	369	32481											
SBNO1	55206	broad.mit.edu	37	chr12	123810101	123810101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgccctcttccaaagcttCtaatgttctagcttctcctg	6	14	5	16	1	4	0	0	0	4	0	6	0	5	0	4	0	2	3	4	0	3	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:123810101C>T	ENST00000420886.2	-	14	1920	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	SBNO1_ENST00000267176.4_Missense_Mutation_p.E640K|SBNO1_ENST00000602750.1_Missense_Mutation_p.E640K|SBNO1_ENST00000602398.1_Missense_Mutation_p.E641K	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	641							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCCAAAGCTTCTAATGTTCTA	0.343													31	204					0	0	0	0	T	123810101	C	T	123810101	3	4	184	1	0	0	0	0	1	0	0	0	13948	922	32	2	2332	2	SBNO1	12	123810101	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	5000	123810101	10041794	370	32482											
TMEM132D	121256	broad.mit.edu	37	chr12	129558534	129558534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctactcatcacgatggagttCctggtggggtactcgtcgtc	6	12	12	11	3	2	0	2	0	0	0	6	2	3	1	1	4	2	2	1	4	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:129558534C>A	ENST00000422113.2	-	9	3512	c.3186G>T	c.(3184-3186)agG>agT	p.R1062S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.R600S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1062						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGATGGAGTTCCTGGTGGGGT	0.517													23	111					2.39556e-15	2.56557e-15	1	0	A	129558534	C	A	129558534	3	1	184	1	0	0	0	0	1	0	0	0	16141	854	30	2	117	2	TMEM132D	12	129558534	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	5748433	129558534	4293361	371	32483											
TMEM132D	121256	broad.mit.edu	37	chr12	130184842	130184842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacggcagcttctccccggCgctgcggtcgtcccagtctc	3	8	12	18	5	2	0	0	0	2	0	6	0	3	0	3	3	2	4	3	3	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:130184842C>T	ENST00000422113.2	-	2	807	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	161						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCTCCCCGGCGCTGCGGTCG	0.642													3	22					0	0	0	0	T	130184842	C	T	130184842	3	4	184	1	0	0	0	0	1	0	0	0	16141	768	27	1	2850	1	TMEM132D	12	130184842	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	626308	130184842	3667053	372	32484											
ULK1	8408	broad.mit.edu	37	chr12	132404537	132404537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcagtggtgcgcaggctGaatgagctgtacaaggccag	9	9	15	8	1	0	2	0	2	0	0	0	2	0	2	1	3	4	5	1	3	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:132404537G>A	ENST00000321867.4	+	26	3168	c.2817G>A	c.(2815-2817)ctG>ctA	p.L939L	ULK1_ENST00000540647.1_Silent_p.L184L	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	939					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGCGCAGGCTGAATGAGCTGT	0.647													5	44					0	0	0	0	A	132404537	G	A	132404537	2	1	184	1	0	0	0	0	0	0	0	1	17071	1277	45	2		2	ULK1	12	132404537	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2219695	132404537	1447358	373	32485											
EP400	57634	broad.mit.edu	37	chr12	132498089	132498089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaataccttcctggagctCtggaccatggtgcacttcct	8	11	8	14	0	1	0	0	0	1	0	3	2	3	2	4	3	3	2	4	3	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:132498089C>T	ENST00000333577.4	+	19	3883	c.3774C>T	c.(3772-3774)ctC>ctT	p.L1258L	EP400_ENST00000389562.2_Silent_p.L1221L|EP400_ENST00000389561.2_Silent_p.L1222L|EP400_ENST00000332482.4_Silent_p.L1185L|EP400_ENST00000330386.6_Silent_p.L1222L			Q96L91	EP400_HUMAN	E1A binding protein p400	1258	Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCTGGAGCTCTGGACCATGG	0.572													13	86					0	0	0	0	T	132498089	C	T	132498089	2	4	184	1	0	0	0	0	0	0	0	1	5187	900	32	2		2	EP400	12	132498089	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	93552	132498089	1353806	374	32486											
GOLGA3	2802	broad.mit.edu	37	chr12	133358996	133358996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcccgtaagcttccctttCtcgtgctctaattcaagagc	8	12	8	13	2	3	1	1	0	2	1	5	1	4	1	2	1	3	3	2	1	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:133358996C>T	ENST00000204726.3	-	17	3909	c.3351G>A	c.(3349-3351)gaG>gaA	p.E1117E	GOLGA3_ENST00000450791.2_Silent_p.E1117E|GOLGA3_ENST00000456883.2_Silent_p.E1117E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1117					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTTCCCTTTCTCGTGCTCTA	0.493													33	157					0	0	0	0	T	133358996	C	T	133358996	2	4	184	1	0	0	0	0	0	0	0	1	6605	912	32	2		2	GOLGA3	12	133358996	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	860907	133358996	492899	375	32487											
ATP12A	479	broad.mit.edu	37	chr13	25263408	25263408	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctcacccaggtgtacttGggctgtgtgcttggtctggt	3	15	13	10	0	2	0	1	0	2	0	3	0	2	0	1	4	2	3	1	4	1	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr13:25263408G>A	ENST00000218548.6	+	5	774	c.441G>A	c.(439-441)ttG>ttA	p.L147L	ATP12A_ENST00000381946.3_Silent_p.L147L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	147					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AGGTGTACTTGGGCTGTGTGC	0.532													19	187					0	0	0	0	A	25263408	G	A	25263408	2	1	184	1	0	0	0	0	0	0	0	1	1126	1339	47	4		4	ATP12A	13	25263408	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08		25263408	89906470	376	32488											
FNDC3A	22862	broad.mit.edu	37	chr13	49771891	49771891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaatggaacagatgtcactGaatatcgactggagtgggga	13	9	14	5	1	1	2	1	1	0	1	2	6	1	5	0	4	1	1	0	4	4	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr13:49771891G>A	ENST00000492622.2	+	21	2676	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K	FNDC3A_ENST00000541916.1_Missense_Mutation_p.E791K|FNDC3A_ENST00000398316.3_Missense_Mutation_p.E735K	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	791	Fibronectin type-III 6.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AGATGTCACTGAATATCGACT	0.388													21	73					0	0	0	0	A	49771891	G	A	49771891	3	1	184	1	0	0	0	0	1	0	0	0	6014	1291	45	2	2460	2	FNDC3A	13	49771891	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	24508483	49771891	65397987	377	32489											
RBM26	64062	broad.mit.edu	37	chr13	79952987	79952987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taactctttttcacttttgtCtttctttaccaaagccagaa	10	18	3	10	0	4	1	1	0	3	1	4	1	4	1	2	0	3	0	2	0	4	8			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr13:79952987C>G	ENST00000438737.2	-	2	567	c.127G>C	c.(127-129)Gac>Cac	p.D43H	RBM26_ENST00000267229.7_Missense_Mutation_p.D43H|RBM26_ENST00000438724.1_Missense_Mutation_p.D43H			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	43					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCACTTTTGTCTTTCTTTACC	0.328													4	27					0	0	0	0	G	79952987	C	G	79952987	3	3	184	1	0	0	0	0	1	0	0	0	13208	913	32	2	2895	2	RBM26	13	79952987	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	30181096	79952987	35216891	378	32490											
NPAS3	64067	broad.mit.edu	37	chr14	34145537	34145537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgtcacagggcactgctGaggacggagccagctcagca	9	6	13	13	1	2	1	2	1	0	0	3	3	3	3	2	3	4	4	2	3	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:34145537G>A	ENST00000346562.2	+	5	657	c.583G>A	c.(583-585)Gag>Aag	p.E195K	NPAS3_ENST00000547068.1_Missense_Mutation_p.E123K|NPAS3_ENST00000357798.5_Missense_Mutation_p.E214K|NPAS3_ENST00000548645.1_Missense_Mutation_p.E197K|NPAS3_ENST00000551492.1_Missense_Mutation_p.E232K|NPAS3_ENST00000551008.1_Missense_Mutation_p.E125K|NPAS3_ENST00000356141.4_Missense_Mutation_p.E227K|NPAS3_ENST00000341321.4_Missense_Mutation_p.E227K	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	227	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GGGCACTGCTGAGGACGGAGC	0.617													9	43					0	0	0	0	A	34145537	G	A	34145537	3	1	184	1	0	0	0	0	1	0	0	0	10634	1291	45	2	756	2	NPAS3	14	34145537	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08		34145537	73204003	379	32491											
RALGAPA1	253959	broad.mit.edu	37	chr14	36143457	36143457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaggggaggtcaggttatCagttgaaatgccaaggttat	13	10	14	4	0	2	2	2	1	0	1	2	3	2	3	1	5	1	3	1	5	5	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:36143457C>T	ENST00000258840.6	-	24	3859	c.3469G>A	c.(3469-3471)Gat>Aat	p.D1157N	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1110N|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D1110N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1123N			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1110					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTCAGGTTATCAGTTGAAATG	0.318													6	20					0	0	0	0	T	36143457	C	T	36143457	3	4	184	1	0	0	0	0	1	0	0	0	13095	826	29	2	3007	2	RALGAPA1	14	36143457	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1997920	36143457	71206083	380	32492											
FANCM	57697	broad.mit.edu	37	chr14	45606317	45606317	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaatatggtgcagtaagaGagtgctttttcttacacctc	11	13	10	7	0	1	1	0	0	1	1	2	3	1	2	1	2	3	3	1	2	4	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:45606317G>C	ENST00000267430.5	+	2	639	c.554G>C	c.(553-555)aGa>aCa	p.R185T	FANCM_ENST00000542564.2_Missense_Mutation_p.R185T|FANCM_ENST00000556036.1_Missense_Mutation_p.R185T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	185	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGCAGTAAGAGAGTGCTTTTT	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	63					0	0	0	0	C	45606317	G	C	45606317	3	2	184	1	0	0	0	0	1	0	0	0	5716	942	33	2	560	2	FANCM	14	45606317	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	9462860	45606317	61743223	381	32493											
FANCM	57697	broad.mit.edu	37	chr14	45644452	45644452	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatcctcagtgatagaatCtgatgaagaatgtgctgaaa	14	12	9	6	0	3	6	2	4	1	2	4	6	4	6	1	0	1	1	1	0	5	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:45644452C>G	ENST00000267430.5	+	14	2580	c.2495C>G	c.(2494-2496)tCt>tGt	p.S832C	FANCM_ENST00000542564.2_Missense_Mutation_p.S806C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	832					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GTGATAGAATCTGATGAAGAA	0.294								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	33					0	0	0	0	G	45644452	C	G	45644452	3	3	184	1	0	0	0	0	1	0	0	0	5716	913	32	2	2549	2	FANCM	14	45644452	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	38135	45644452	61705088	382	32494											
FANCM	57697	broad.mit.edu	37	chr14	45665674	45665674	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtcaataagaacaagttCattgagcagatccagcacct	15	9	8	9	0	2	3	2	1	0	2	3	3	3	3	2	0	3	3	2	0	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:45665674C>T	ENST00000267430.5	+	21	5725	c.5640C>T	c.(5638-5640)ttC>ttT	p.F1880F	FANCM_ENST00000542564.2_Silent_p.F1854F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1880	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGAACAAGTTCATTGAGCAGA	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				17	71					0	0	0	0	T	45665674	C	T	45665674	2	4	184	1	0	0	0	0	0	0	0	1	5716	825	29	2		2	FANCM	14	45665674	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	21222	45665674	61683866	383	32495											
NIN	51199	broad.mit.edu	37	chr14	51208379	51208379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttttcctgctgagtcactCgtaggtcagatttcatccgg	6	14	9	12	2	3	2	3	1	0	1	6	2	5	2	3	2	1	2	3	2	1	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:51208379C>T	ENST00000245441.5	-	25	5559	c.5369G>A	c.(5368-5370)cGa>cAa	p.R1790Q	NIN_ENST00000324330.9_Missense_Mutation_p.R1790Q|NIN_ENST00000453196.1_Missense_Mutation_p.R1790Q|NIN_ENST00000382043.4_Missense_Mutation_p.R1077Q|NIN_ENST00000389868.3_Missense_Mutation_p.R1077Q|NIN_ENST00000530997.2_Missense_Mutation_p.R1790Q|NIN_ENST00000382041.3_Missense_Mutation_p.R1790Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1790					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTGAGTCACTCGTAGGTCAGA	0.393			T	PDGFRB	MPD								28	144					0	0	0	0	T	51208379	C	T	51208379	3	4	184	1	0	0	0	0	1	0	0	0	10487	884	31	1	1208	1	NIN	14	51208379	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	5542705	51208379	56141161	384	32496											
CDKN3	1033	broad.mit.edu	37	chr14	54875501	54875501	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagaagaaatgtccaaaaaGatacaggtaggtataatatc	19	10	8	4	0	0	3	0	0	0	3	2	3	1	3	1	2	1	2	1	2	10	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:54875501G>C	ENST00000541304.1	+	4	227	c.187G>C	c.(187-189)Gat>Cat	p.D63H	CDKN3_ENST00000335183.6_Missense_Mutation_p.D63H|CDKN3_ENST00000442975.2_Missense_Mutation_p.D23H|CDKN3_ENST00000395577.2_Missense_Mutation_p.D17H|CDKN3_ENST00000458126.2_Missense_Mutation_p.D63H|CDKN3_ENST00000543789.2_Missense_Mutation_p.D63H|CDKN3_ENST00000556102.2_Missense_Mutation_p.D63H|CDKN3_ENST00000556305.1_3'UTR			Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3	63					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(2)|stomach(1)	3						TGTCCAAAAAGATACAGGTAG	0.279													15	92					0	0	0	0	C	54875501	G	C	54875501	3	2	184	1	0	0	0	0	1	0	0	0	3196	942	33	2	201	2	CDKN3	14	54875501	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3667122	54875501	52474039	385	32497											
KIAA0586	9786	broad.mit.edu	37	chr14	58932685	58932685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatttgttcagcccaagtaGagaaatgcctactttttcag	12	14	7	8	0	2	1	2	0	0	1	2	2	2	1	2	0	3	2	2	0	5	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:58932685G>A	ENST00000423743.3	+	16	2318	c.2060G>A	c.(2059-2061)aGa>aAa	p.R687K	KIAA0586_ENST00000261244.5_Missense_Mutation_p.R655K|KIAA0586_ENST00000354386.6_Missense_Mutation_p.R784K|KIAA0586_ENST00000556134.1_Missense_Mutation_p.R716K|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	655										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCCAAGTAGAGAAATGCCT	0.358													6	166					0	0	0	0	A	58932685	G	A	58932685	3	1	184	1	0	0	0	0	1	0	0	0	8237	942	33	2	2018	2	KIAA0586	14	58932685	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4057184	58932685	48416855	386	32498											
PLEKHG3	26030	broad.mit.edu	37	chr14	65198093	65198093	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgcaggagattcagtcactCctcatcaactggaaggggcc	10	8	11	12	0	4	1	4	0	0	1	5	3	5	2	2	4	2	1	2	4	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:65198093C>G	ENST00000247226.7	+	6	1004	c.696C>G	c.(694-696)ctC>ctG	p.L232L	PLEKHG3_ENST00000394691.1_Silent_p.L288L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	288	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TTCAGTCACTCCTCATCAACT	0.602													5	33					0	0	0	0	G	65198093	C	G	65198093	2	3	184	1	0	0	0	0	0	0	0	1	12142	842	30	2		2	PLEKHG3	14	65198093	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	6265408	65198093	42151447	387	32499											
RBM25	58517	broad.mit.edu	37	chr14	73566393	73566393	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggatataaatgctataGaaatggaagaagacaaaaga	22	6	11	2	0	0	4	0	0	0	4	0	7	0	7	0	3	1	1	0	3	10	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:73566393G>T	ENST00000261973.7	+	9	1087	c.802G>T	c.(802-804)Gaa>Taa	p.E268*	RBM25_ENST00000526754.1_Nonsense_Mutation_p.E268*|RBM25_ENST00000525321.1_Nonsense_Mutation_p.E268*|RBM25_ENST00000527432.1_Nonsense_Mutation_p.E268*|RBM25_ENST00000540173.1_Nonsense_Mutation_p.E268*	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	268					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AAATGCTATAGAAATGGAAGA	0.348													18	90					1.50039e-11	1.59657e-11	1	0	T	73566393	G	T	73566393	4	4	184	1	0	0	0	0	0	1	0	0	13207	943	33	2	832	2	RBM25	14	73566393	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	8368300	73566393	33783147	388	32500											
HEATR4	399671	broad.mit.edu	37	chr14	73989358	73989358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctggatgcatgcagggatGatggatgagagggcggggtg	9	8	20	4	1	1	2	0	2	1	1	1	6	1	5	0	6	2	2	0	6	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:73989358G>A	ENST00000553558.1	-	3	820	c.499C>T	c.(499-501)Cat>Tat	p.H167Y	HEATR4_ENST00000560393.1_Missense_Mutation_p.H120Y|HEATR4_ENST00000334988.2_Missense_Mutation_p.H167Y	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		ATGCAGGGATGATGGATGAGA	0.562													9	46					0	0	0	0	A	73989358	G	A	73989358	3	1	184	1	0	0	0	0	1	0	0	0	7080	1290	45	2	2645	2	HEATR4	14	73989358	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	422965	73989358	33360182	389	32501											
NEK9	91754	broad.mit.edu	37	chr14	75568401	75568401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgcctggggcaatggtaCggatcttataaaaggacaac	12	10	11	8	1	2	0	0	0	2	0	2	2	2	2	1	5	3	2	1	5	6	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:75568401C>T	ENST00000238616.5	-	15	1957	c.1799G>A	c.(1798-1800)cGt>cAt	p.R600H		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	600					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GGCAATGGTACGGATCTTATA	0.413													17	146					0	0	0	0	T	75568401	C	T	75568401	3	4	184	1	0	0	0	0	1	0	0	0	10401	536	19	1	1172	1	NEK9	14	75568401	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1579043	75568401	31781139	390	32502											
ALKBH1	8846	broad.mit.edu	37	chr14	78146284	78146284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagtttctccagtaaacttCggggtctccgtttagtcgct	6	14	10	11	3	2	0	0	0	2	0	6	0	2	0	2	2	1	5	2	2	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:78146284C>T	ENST00000216489.3	-	4	500	c.485G>A	c.(484-486)cGa>cAa	p.R162Q		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	162					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CAGTAAACTTCGGGGTCTCCG	0.398													15	94					0	0	0	0	T	78146284	C	T	78146284	3	4	184	1	0	0	0	0	1	0	0	0	526	884	31	1	696	1	ALKBH1	14	78146284	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2577883	78146284	29203256	391	32503											
FAM181A	90050	broad.mit.edu	37	chr14	94394757	94394757	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccatcgcaagtacctgcaGaagcagctcaagcgcttctc	11	7	9	14	2	2	1	1	0	1	1	4	2	2	1	2	0	5	6	2	0	4	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:94394757G>A	ENST00000267594.5	+	3	619	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FAM181A_ENST00000557000.2_Silent_p.Q42Q|FAM181A_ENST00000557719.1_Silent_p.Q42Q|FAM181A_ENST00000556222.1_Silent_p.Q42Q	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	104										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGTACCTGCAGAAGCAGCTCA	0.632													5	22					0	0	0	0	A	94394757	G	A	94394757	2	1	184	1	0	0	0	0	0	0	0	1	5550	933	33	2		2	FAM181A	14	94394757	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	16248473	94394757	12954783	392	32504											
MTA1	9112	broad.mit.edu	37	chr14	105936499	105936499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccaggccctgccgccgCggccaccgccacctgcgccc	5	2	12	22	5	0	1	0	0	0	1	0	1	0	1	9	2	3	0	9	2	0	0	rs146041220	byFrequency	TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:105936499C>T	ENST00000331320.7	+	21	2309	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000406191.1_Missense_Mutation_p.R687W|MTA1_ENST00000405646.1_Missense_Mutation_p.R682W|MTA1_ENST00000435036.2_Missense_Mutation_p.R239W	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	699	Poly-Pro.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CCTGCCGCCGCGGCCACCGCC	0.736													5	17					0	0	0	0	T	105936499	C	T	105936499	3	4	184	1	0	0	0	0	1	0	0	0	9978	759	27	1	2177	1	MTA1	14	105936499	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	11541742	105936499	1413041	393	32505											
HERC2	8924	broad.mit.edu	37	chr15	28413555	28413555	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttagattcgcttttacctCtctcttttcttgccatggat	5	20	5	11	1	3	1	0	0	3	1	5	2	3	2	2	1	2	1	2	1	2	8			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:28413555C>G	ENST00000261609.7	-	67	10519	c.10411G>C	c.(10411-10413)Gag>Cag	p.E3471Q		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3471					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTTTTACCTCTCTCTTTTCT	0.428													25	125					0	0	0	0	G	28413555	C	G	28413555	3	3	184	1	0	0	0	0	1	0	0	0	7108	922	32	2	4201	2	HERC2	15	28413555	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08		28413555	74117837	394	32506											
HERC2	8924	broad.mit.edu	37	chr15	28459835	28459835	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtcagaggagcaggtagtGagcaagcttcccaagaagtc	13	6	13	9	1	1	3	1	1	0	2	3	4	2	4	1	2	3	4	1	2	4	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:28459835G>A	ENST00000261609.7	-	40	6432	c.6324C>T	c.(6322-6324)ctC>ctT	p.L2108L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2108					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAGGTAGTGAGCAAGCTTC	0.562													5	22					0	0	0	0	A	28459835	G	A	28459835	2	1	184	1	0	0	0	0	0	0	0	1	7108	1277	45	2		2	HERC2	15	28459835	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	46280	28459835	74071557	395	32507											
TRPM1	4308	broad.mit.edu	37	chr15	31323259	31323259	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagatgtttcgggccagtttCcaagagggcttctcctctgg	7	12	12	10	1	2	2	0	0	2	2	5	2	3	2	3	3	0	3	3	3	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:31323259C>T	ENST00000542188.1	-	22	3418	c.3105G>A	c.(3103-3105)tgG>tgA	p.W1035*	RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Nonsense_Mutation_p.W996*|TRPM1_ENST00000256552.6_Nonsense_Mutation_p.W1018*	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	996					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGGCCAGTTTCCAAGAGGGCT	0.478													12	99					0	0	0	0	T	31323259	C	T	31323259	4	4	184	1	0	0	0	0	0	1	0	0	16680	856	30	2	1847	2	TRPM1	15	31323259	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2863424	31323259	71208133	396	32508											
TRPM1	4308	broad.mit.edu	37	chr15	31362189	31362189	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggagactggccgccaatGaaagctgtgatcctagtggc	9	8	14	10	1	0	3	0	2	0	1	1	4	1	3	3	3	1	1	3	3	3	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:31362189G>A	ENST00000559179.1	-	3	391	c.258C>T	c.(256-258)ttC>ttT	p.F86F	TRPM1_ENST00000542188.1_Intron|TRPM1_ENST00000397795.2_Intron|TRPM1_ENST00000256552.6_Intron	NM_001252030.1	NP_001238959.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	0					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGCCGCCAATGAAAGCTGTGA	0.463													53	309					0	0	0	0	A	31362189	G	A	31362189	2	1	184	1	0	0	0	0	0	0	0	1	16680	1305	45	2		2	TRPM1	15	31362189	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	38930	31362189	71169203	397	32509											
FMN1	342184	broad.mit.edu	37	chr15	33359906	33359906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggattcacgtctaaactatgGaatgctttcagcacagcatc	12	11	8	10	1	3	0	2	0	1	0	4	2	3	2	0	2	4	3	0	2	4	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:33359906G>A	ENST00000334528.9	-	1	179	c.180C>T	c.(178-180)ttC>ttT	p.F60F	FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000558197.1_Silent_p.F60F	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTAAACTATGGAATGCTTTCA	0.453													10	71					0	0	0	0	A	33359906	G	A	33359906	2	1	184	1	0	0	0	0	0	0	0	1	5994	1165	41	2		2	FMN1	15	33359906	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1997717	33359906	69171486	398	32510											
MAPKBP1	23005	broad.mit.edu	37	chr15	42110227	42110227	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gatatttaacatcagcagtgGaaagcagaagaagctgttta	16	10	10	5	0	1	2	1	0	0	2	1	4	1	3	0	1	4	4	0	1	6	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:42110227G>C	ENST00000457542.2	+	17	2211	c.1925G>C	c.(1924-1926)gGa>gCa	p.G642A	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G642A|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G481A|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G648A|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G525A	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	648										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATCAGCAGTGGAAAGCAGAAG	0.517													28	140					0	0	0	0	C	42110227	G	C	42110227	3	2	184	1	0	0	0	0	1	0	0	0	9361	1174	41	2	2009	2	MAPKBP1	15	42110227	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	8750321	42110227	60421165	399	32511											
TGM5	9333	broad.mit.edu	37	chr15	43552604	43552604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggggttcttaccagtttCaaccacgaagatgatgttgt	9	13	11	8	1	2	2	1	1	1	1	2	3	2	2	2	2	2	4	2	2	3	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:43552604C>G	ENST00000220420.5	-	2	191	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q	TGM5_ENST00000349114.4_Missense_Mutation_p.E62Q	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	62					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TTACCAGTTTCAACCACGAAG	0.597													5	49					0	0	0	0	G	43552604	C	G	43552604	3	3	184	1	0	0	0	0	1	0	0	0	15927	835	29	2	2026	2	TGM5	15	43552604	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1442377	43552604	58978788	400	32512											
MAP1A	4130	broad.mit.edu	37	chr15	43814069	43814069	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccttatctctcctgagcttgGagttgtctttttcaacgtgc	5	17	8	11	1	3	1	1	1	2	0	5	2	4	2	2	1	3	2	2	1	2	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:43814069G>C	ENST00000382031.1	+	5	1143	c.1112G>C	c.(1111-1113)gGa>gCa	p.G371A	MAP1A_ENST00000399453.1_Missense_Mutation_p.G133A|MAP1A_ENST00000300231.5_Missense_Mutation_p.G133A			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	133	Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCTGAGCTTGGAGTTGTCTTT	0.557													13	51					0	0	0	0	C	43814069	G	C	43814069	3	2	184	1	0	0	0	0	1	0	0	0	9296	1174	41	2	400	2	MAP1A	15	43814069	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	261465	43814069	58717323	401	32513											
PPIP5K1	9677	broad.mit.edu	37	chr15	43827592	43827592	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttagggagggttgatcactGaagccaaattgggagttacc	11	11	13	6	0	1	2	1	2	0	0	1	4	1	4	2	3	2	2	2	3	4	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:43827592G>A	ENST00000420765.1	-	31	3764	c.3582C>T	c.(3580-3582)ttC>ttT	p.F1194F	PPIP5K1_ENST00000396923.3_Silent_p.F1194F|PPIP5K1_ENST00000381879.4_Silent_p.F1170F|PPIP5K1_ENST00000360301.4_Silent_p.F1169F|PPIP5K1_ENST00000360135.4_Silent_p.F1167F|PPIP5K1_ENST00000348806.6_Silent_p.F1167F|PPIP5K1_ENST00000334933.4_Silent_p.F1169F|PPIP5K1_ENST00000381885.1_Silent_p.F1190F	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1194					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GTTGATCACTGAAGCCAAATT	0.522													16	85					0	0	0	0	A	43827592	G	A	43827592	2	1	184	1	0	0	0	0	0	0	0	1	12408	1281	45	2		2	PPIP5K1	15	43827592	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	13523	43827592	58703800	402	32514											
DMXL2	23312	broad.mit.edu	37	chr15	51790872	51790872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagacttgagtgcataagatGacttgaaagtacccttgcat	13	12	9	7	0	0	5	0	3	0	2	0	5	0	5	1	0	3	3	1	0	4	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:51790872G>A	ENST00000251076.5	-	18	4836	c.4549C>T	c.(4549-4551)Cat>Tat	p.H1517Y	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.H1517Y	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1517						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGCATAAGATGACTTGAAAGT	0.408													19	46					0	0	0	0	A	51790872	G	A	51790872	3	1	184	1	0	0	0	0	1	0	0	0	4632	1290	45	2	4668	2	DMXL2	15	51790872	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	7963280	51790872	50740520	403	32515											
THSD4	79875	broad.mit.edu	37	chr15	71535293	71535293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaggctaccctgcagcttCaagtctctttcacagcccag	9	10	7	15	0	4	0	3	0	1	0	5	0	4	0	2	1	4	3	2	1	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:71535293C>T	ENST00000355327.3	+	5	904	c.770C>T	c.(769-771)tCa>tTa	p.S257L	THSD4_ENST00000261862.6_Missense_Mutation_p.S257L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	257	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTGCAGCTTCAAGTCTCTTT	0.562													17	64					0	0	0	0	T	71535293	C	T	71535293	3	4	184	1	0	0	0	0	1	0	0	0	15972	838	29	2	784	2	THSD4	15	71535293	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	19744421	71535293	30996099	404	32516											
C15orf27	123591	broad.mit.edu	37	chr15	76496185	76496185	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctctggacatgcccctCaaactcggcggtaatggcac	8	10	9	14	2	3	0	1	0	2	0	5	1	3	1	2	4	2	2	2	4	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:76496185C>G	ENST00000388942.3	+	11	1401	c.1125C>G	c.(1123-1125)ctC>ctG	p.L375L		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	375						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						ACATGCCCCTCAAACTCGGCG	0.632													23	103					0	0	0	0	G	76496185	C	G	76496185	2	3	184	1	0	0	0	0	0	0	0	1	1800	813	29	2		2	C15orf27	15	76496185	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	4960892	76496185	26035207	405	32517											
C15orf27	123591	broad.mit.edu	37	chr15	76496280	76496280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcagccagacgctgggctCctccatggactgcagcactg	8	6	12	15	1	0	1	0	0	0	1	2	2	2	2	3	2	4	5	3	2	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:76496280C>T	ENST00000388942.3	+	11	1496	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	407						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						ACGCTGGGCTCCTCCATGGAC	0.697													9	30					0	0	0	0	T	76496280	C	T	76496280	3	4	184	1	0	0	0	0	1	0	0	0	1800	855	30	2	1258	2	C15orf27	15	76496280	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	95	76496280	26035112	406	32518											
IL16	3603	broad.mit.edu	37	chr15	81575003	81575003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgtgggcctgggcatcGgcctgtgcagcgttccctac	3	8	15	15	4	0	0	0	0	0	0	2	0	1	0	4	4	3	3	4	4	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:81575003G>A	ENST00000394660.2	+	9	1465	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	IL16_ENST00000302987.4_Missense_Mutation_p.G369S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	369	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCTGGGCATCGGCCTGTGCAG	0.642													26	125					0	0	0	0	A	81575003	G	A	81575003	3	1	184	1	0	0	0	0	1	0	0	0	7686	1116	39	1	1135	1	IL16	15	81575003	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	5078723	81575003	20956389	407	32519											
ALPK3	57538	broad.mit.edu	37	chr15	85406114	85406114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcccagcagtgagacttctCttgtgggcagaaactacgac	10	8	12	11	1	1	2	0	1	1	2	2	4	1	2	1	2	3	2	1	2	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:85406114C>T	ENST00000258888.5	+	10	5151	c.4984C>T	c.(4984-4986)Ctt>Ttt	p.L1662F		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1662	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGAGACTTCTCTTGTGGGCAG	0.557													17	95					0	0	0	0	T	85406114	C	T	85406114	3	4	184	1	0	0	0	0	1	0	0	0	546	913	32	2	5022	2	ALPK3	15	85406114	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3831111	85406114	17125278	408	32520											
ALPK3	57538	broad.mit.edu	37	chr15	85406847	85406847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcagaagcccgggccgCgcctggctttggggaggtgc	5	5	18	13	4	0	1	0	0	0	1	0	2	0	2	3	5	3	3	3	5	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:85406847C>T	ENST00000258888.5	+	11	5248	c.5081C>T	c.(5080-5082)gCg>gTg	p.A1694V		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1694	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCGGGCCGCGCCTGGCTTT	0.557													6	21					0	0	0	0	T	85406847	C	T	85406847	3	4	184	1	0	0	0	0	1	0	0	0	546	768	27	1	5123	1	ALPK3	15	85406847	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	733	85406847	17124545	409	32521											
AEN	64782	broad.mit.edu	37	chr15	89173347	89173347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagccatggagctctaccGgctggtggaggtgcagtggg	7	7	18	9	1	1	0	0	0	1	0	1	3	1	2	2	6	4	3	2	6	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:89173347G>A	ENST00000332810.3	+	4	951	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	AEN_ENST00000379231.3_Missense_Mutation_p.R267Q	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	267					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						GAGCTCTACCGGCTGGTGGAG	0.607													8	42					0	0	0	0	A	89173347	G	A	89173347	3	1	184	1	0	0	0	0	1	0	0	0	351	1116	39	1	810	1	AEN	15	89173347	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3766500	89173347	13358045	410	32522											
OR4F6	390648	broad.mit.edu	37	chr15	102346152	102346152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtattttgttcctccaCagctcccaagatgatttatg	8	17	7	9	0	0	2	0	1	0	1	3	2	3	2	3	1	1	3	3	1	3	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:102346152C>T	ENST00000328882.4	+	1	251	c.230C>T	c.(229-231)aCa>aTa	p.T77I		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGTTCCTCCACAGCTCCCAAG	0.463													49	253					0	0	0	0	T	102346152	C	T	102346152	3	4	184	1	0	0	0	0	1	0	0	0	11137	478	17	4	232	4	OR4F6	15	102346152	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	13172805	102346152	185240	411	32523											
BAIAP3	8938	broad.mit.edu	37	chr16	1398119	1398119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcctgccgaggcgtgcCgccgccgcgcggcctgtgtg	1	6	17	17	8	0	0	0	0	0	0	0	1	0	0	7	2	3	0	7	2	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:1398119C>T	ENST00000324385.5	+	33	3435	c.3277C>T	c.(3277-3279)Cgc>Tgc	p.R1093C	BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1030C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1035C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1075C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1075C|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R1022C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1058C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1093	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CGAGGCGTGCCGCCGCCGCGC	0.701													7	33					0	0	0	0	T	1398119	C	T	1398119	3	4	184	1	0	0	0	0	1	0	0	0	1308	652	23	1	3407	1	BAIAP3	16	1398119	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08		1398119	88956634	412	32524											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1816351	1816351	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgcggcccgggcctctCacagagcacgtcttcactga	8	8	10	15	3	3	2	2	1	2	1	4	2	3	2	2	2	2	1	2	2	0	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:1816351C>A	ENST00000250894.4	+	22	2914	c.2757C>A	c.(2755-2757)ctC>ctA	p.L919L	MAPK8IP3_ENST00000356010.5_Silent_p.L913L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	919					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|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						CCGGGCCTCTCACAGAGCACG	0.687													6	38					3.59834e-05	3.72745e-05	1	0	A	1816351	C	A	1816351	2	1	184	1	0	0	0	0	0	0	0	1	9355	813	29	2		2	MAPK8IP3	16	1816351	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	418232	1816351	88538402	413	32525											
SRRM2	23524	broad.mit.edu	37	chr16	2808519	2808519	+	Frame_Shift_Del	DEL	G	G	-																															tcaccaaccccaaagcagaaGaagaagaaaaagaagaaaga																										TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:2808519delG	ENST00000301740.8	+	5	1113	c.564delG	c.(562-564)aafs	p.K194fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	194	Lys-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAaagcagaagaagaagaaaa	0.453													25	207	---	---	---	---					-	2808519	G	-	2808519	7	5	184	1	0	1	0	1	0	0	0	0	15259	933	33	0	578	0	SRRM2	16	2808519	Frame_Shift_Del	DEL	G	TCGA-CR-6481-01A-11D-1870-08	992168	2808519	87546234	414	32526											
SRRM2	23524	broad.mit.edu	37	chr16	2811883	2811883	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccagggtcccaccgaGagatttcttcttctcccaca	8	10	7	16	1	3	1	0	0	3	1	6	3	5	1	4	1	1	1	4	1	0	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:2811883G>T	ENST00000301740.8	+	11	1903	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	452	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTCCCACCGAGAGATTTCTTC	0.547													19	207					1.56452e-12	1.67286e-12	1	0	T	2811883	G	T	2811883	4	4	184	1	0	0	0	0	0	1	0	0	15259	943	33	2	1392	2	SRRM2	16	2811883	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3364	2811883	87542870	415	32527											
CREBBP	1387	broad.mit.edu	37	chr16	3830809	3830809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttacaccggtgctagaagGaggagctgctgttggtatag	9	10	14	8	1	0	1	0	0	0	1	0	3	0	3	2	4	4	5	2	4	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:3830809G>A	ENST00000262367.5	-	8	2556	c.1747C>T	c.(1747-1749)Cct>Tct	p.P583S	CREBBP_ENST00000382070.3_Missense_Mutation_p.P545S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	583					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGCTAGAAGGAGGAGCTGCT	0.483			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						7	49					0	0	0	0	A	3830809	G	A	3830809	3	1	184	1	0	0	0	0	1	0	0	0	3891	1174	41	2	5677	2	CREBBP	16	3830809	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1018926	3830809	86523944	416	32528											
SEPT12	124404	broad.mit.edu	37	chr16	4835884	4835884	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttcacacccttctcctCtatgactgtggagggagagc	8	10	10	13	0	3	2	1	1	2	1	4	4	3	3	2	2	2	1	2	2	1	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:4835884C>A	ENST00000268231.8	-	4	561	c.298G>T	c.(298-300)Gag>Tag	p.E100*	SEPT12_ENST00000396693.5_Nonsense_Mutation_p.E100*|SEPT12_ENST00000591861.1_5'UTR	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	100					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CCCTTCTCCTCTATGACTGTG	0.582													9	78					0.00621372	0.00630873	1	0	A	4835884	C	A	4835884	4	1	184	1	0	0	0	0	0	1	0	0	14149	922	32	2	806	2	SEPT12	16	4835884	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1005075	4835884	85518869	417	32529											
GRIN2A	2903	broad.mit.edu	37	chr16	9943615	9943615	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcattcctgccactcacttGattttgacgaacttccgaca	10	12	6	13	2	1	2	1	2	0	0	3	4	3	2	3	0	3	1	3	0	1	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:9943615G>C	ENST00000396573.2	-	6	1635	c.1326C>G	c.(1324-1326)atC>atG	p.I442M	GRIN2A_ENST00000396575.2_Missense_Mutation_p.I442M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.I442M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.I285M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.I442M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.I442M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	442					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCACTCACTTGATTTTGACGA	0.493													13	59					0	0	0	0	C	9943615	G	C	9943615	3	2	184	1	0	0	0	0	1	0	0	0	6829	1280	45	2	3104	2	GRIN2A	16	9943615	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	5107731	9943615	80411138	418	32530											
ABCC6	368	broad.mit.edu	37	chr16	16286777	16286777	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgagggcggagggccccagGagctggggatagaaggggca	9	3	22	7	1	0	2	0	1	0	1	0	5	0	5	2	8	1	2	2	8	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:16286777G>A	ENST00000205557.7	-	11	1370	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	447	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGGGCCCCAGGAGCTGGGGAT	0.562													14	59					0	0	0	0	A	16286777	G	A	16286777	2	1	184	1	0	0	0	0	0	0	0	1	57	1161	41	2		2	ABCC6	16	16286777	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	6343162	16286777	74067976	419	32531											
ZP2	7783	broad.mit.edu	37	chr16	21213295	21213295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcttggaggaaaatccGtccagagagcatgtatttcg	10	13	11	7	2	0	1	0	0	0	1	3	4	2	3	2	2	2	3	2	2	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:21213295G>A	ENST00000574002.1	-	13	1819	c.1337C>T	c.(1336-1338)aCg>aTg	p.T446M	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.T446M|ZP2_ENST00000219593.4_Missense_Mutation_p.T446M			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	446	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGGAAAATCCGTCCAGAGAGC	0.363													17	81					0	0	0	0	A	21213295	G	A	21213295	3	1	184	1	0	0	0	0	1	0	0	0	18309	1145	40	1	932	1	ZP2	16	21213295	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4926518	21213295	69141458	420	32532											
ARHGAP17	55114	broad.mit.edu	37	chr16	24950751	24950751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggacagtcccacccccaGagctgctttcagccctagag	9	6	11	15	0	1	2	1	0	0	2	2	3	2	3	4	2	3	2	4	2	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:24950751G>A	ENST00000289968.6	-	17	1727	c.1658C>T	c.(1657-1659)tCt>tTt	p.S553F	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Intron	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	553	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CCCACCCCCAGAGCTGCTTTC	0.687													5	25					0	0	0	0	A	24950751	G	A	24950751	3	1	184	1	0	0	0	0	1	0	0	0	869	942	33	2	1003	2	ARHGAP17	16	24950751	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3737456	24950751	65404002	421	32533											
GTF3C1	2975	broad.mit.edu	37	chr16	27495572	27495572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggtttttgactatgtagcGagctcttcgtccaacggaat	8	14	11	8	3	1	1	0	1	1	0	3	3	2	2	1	2	3	3	1	2	4	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:27495572G>A	ENST00000356183.4	-	25	3976	c.3961C>T	c.(3961-3963)Cgc>Tgc	p.R1321C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1321C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1321						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACTATGTAGCGAGCTCTTCGT	0.488													25	54					0	0	0	0	A	27495572	G	A	27495572	3	1	184	1	0	0	0	0	1	0	0	0	6922	1058	37	1	2420	1	GTF3C1	16	27495572	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2544821	27495572	62859181	422	32534											
ZNF768	79724	broad.mit.edu	37	chr16	30537313	30537313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatggtatctcttcgacttCatagtccccactgccttctt	8	15	5	13	1	3	0	1	0	2	0	6	1	4	0	3	1	1	1	3	1	3	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:30537313C>T	ENST00000380412.5	-	2	323	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	ZNF747_ENST00000569360.1_3'UTR|ZNF747_ENST00000535210.1_3'UTR|ZNF768_ENST00000562803.1_Missense_Mutation_p.E19K	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	50					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCTTCgacttcatagtcccca	0.507													23	162					0	0	0	0	T	30537313	C	T	30537313	3	4	184	1	0	0	0	0	1	0	0	0	18235	835	29	2	1478	2	ZNF768	16	30537313	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3041741	30537313	59817440	423	32535											
GPR114	221188	broad.mit.edu	37	chr16	57597888	57597888	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctccaacacccactttttCaaggtcagtgtgatggcggg	8	12	10	11	1	3	1	2	1	1	0	4	1	3	1	2	3	1	0	2	3	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:57597888C>G	ENST00000340339.4	+	5	949	c.426C>G	c.(424-426)ttC>ttG	p.F142L	GPR114_ENST00000349457.3_Missense_Mutation_p.F142L|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	142					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CCCACTTTTTCAAGGTCAGTG	0.637													11	70					0	0	0	0	G	57597888	C	G	57597888	3	3	184	1	0	0	0	0	1	0	0	0	6680	825	29	2	440	2	GPR114	16	57597888	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	27060575	57597888	32756865	424	32536											
GPR114	221188	broad.mit.edu	37	chr16	57598964	57598964	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatgaaaacaactcatctCtgctgaataactacgtcctg	14	10	7	10	1	2	2	1	2	1	0	4	3	3	3	1	1	5	1	1	1	6	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:57598964C>G	ENST00000340339.4	+	6	971	c.448C>G	c.(448-450)Ctg>Gtg	p.L150V	GPR114_ENST00000349457.3_Missense_Mutation_p.L150V|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CAACTCATCTCTGCTGAATAA	0.567													9	72					0	0	0	0	G	57598964	C	G	57598964	3	3	184	1	0	0	0	0	1	0	0	0	6680	912	32	2	466	2	GPR114	16	57598964	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1076	57598964	32755789	425	32537											
SLC38A7	55238	broad.mit.edu	37	chr16	58704061	58704061	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagagagtttggcttgaatGaggcacagccctgaaagaga	13	8	13	7	0	1	5	1	3	0	2	1	7	1	5	1	2	1	3	1	2	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:58704061G>A	ENST00000570101.1	-	10	2125	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	SLC38A7_ENST00000219320.4_Silent_p.L414L|SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000564010.1_Silent_p.L325L			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	414					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGGCTTGAATGAGGCACAGCC	0.557													14	42					0	0	0	0	A	58704061	G	A	58704061	2	1	184	1	0	0	0	0	0	0	0	1	14697	1277	45	2		2	SLC38A7	16	58704061	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1105097	58704061	31650692	426	32538											
RLTPR	146206	broad.mit.edu	37	chr16	67680670	67680670	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacaatggcttccctttcCgagaggagattcagtgggtg	9	11	12	9	1	1	2	1	0	0	2	3	4	3	2	2	3	1	1	2	3	2	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:67680670C>T	ENST00000334583.6	+	7	848	c.520C>T	c.(520-522)Cga>Tga	p.R174*	RLTPR_ENST00000545661.1_Nonsense_Mutation_p.R174*	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	174										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTTCCCTTTCCGAGAGGAGAT	0.582													10	90					0	0	0	0	T	67680670	C	T	67680670	4	4	184	1	0	0	0	0	0	1	0	0	13479	644	23	1	546	1	RLTPR	16	67680670	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	8976609	67680670	22674083	427	32539											
THAP11	57215	broad.mit.edu	37	chr16	67876995	67876995	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacagccggcgcccatcactCccactggagaagacgtgaag	11	5	11	14	3	1	3	1	1	0	2	2	4	2	3	3	2	2	0	3	2	3	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:67876995C>G	ENST00000303596.1	+	1	783	c.538C>G	c.(538-540)Ccc>Gcc	p.P180A	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GCCCATCACTCCCACTGGAGA	0.647													19	132					0	0	0	0	G	67876995	C	G	67876995	3	3	184	1	0	0	0	0	1	0	0	0	15937	855	30	2	540	2	THAP11	16	67876995	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	196325	67876995	22477758	428	32540											
THAP11	57215	broad.mit.edu	37	chr16	67877127	67877127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctggaggctgccgagtgcCctatgggcccccagttggtg	4	8	17	12	1	0	0	0	0	0	0	0	2	0	1	4	5	2	3	4	5	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:67877127C>T	ENST00000303596.1	+	1	915	c.670C>T	c.(670-672)Cct>Tct	p.P224S	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TGCCGAGTGCCCTATGGGCCC	0.657													7	68					0	0	0	0	T	67877127	C	T	67877127	3	4	184	1	0	0	0	0	1	0	0	0	15937	623	22	4	672	4	THAP11	16	67877127	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	132	67877127	22477626	429	32541											
PSMB10	5699	broad.mit.edu	37	chr16	67969349	67969349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcggctggaaccggtcttCtagcaccgccagggccgcgt	5	8	14	14	5	2	0	0	0	2	0	3	1	2	1	4	4	2	3	4	4	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:67969349C>T	ENST00000358514.4	-	6	869	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	CTC-479C5.12_ENST00000573493.1_Silent_p.*31*	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	178					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		AACCGGTCTTCTAGCACCGCC	0.647													19	65					0	0	0	0	T	67969349	C	T	67969349	3	4	184	1	0	0	0	0	1	0	0	0	12754	922	32	2	301	2	PSMB10	16	67969349	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	92222	67969349	22385404	430	32542											
PSMB10	5699	broad.mit.edu	37	chr16	67970194	67970194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgttagtggctcgcgtatCggcgcccagaatgaccccgt	7	9	12	13	6	0	2	0	1	0	1	3	2	0	2	3	2	0	3	3	2	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:67970194C>A	ENST00000358514.4	-	3	503	c.166G>T	c.(166-168)Gat>Tat	p.D56Y		NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	56					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GCTCGCGTATCGGCGCCCAGA	0.632													8	53					0.00307968	0.00313636	1	0	A	67970194	C	A	67970194	3	1	184	1	0	0	0	0	1	0	0	0	12754	884	31	3	679	3	PSMB10	16	67970194	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	845	67970194	22384559	431	32543											
CDH3	1001	broad.mit.edu	37	chr16	68729708	68729708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcacccagctccaccgagGtctggaggccaggccggagg	8	4	14	15	2	2	0	1	0	1	0	3	3	3	2	5	6	1	1	5	6	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:68729708G>A	ENST00000264012.4	+	15	2706	c.2162G>A	c.(2161-2163)gGt>gAt	p.G721D	CDH3_ENST00000429102.2_Missense_Mutation_p.G721D|CDH3_ENST00000581171.1_Missense_Mutation_p.G666D	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	721					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CTCCACCGAGGTCTGGAGGCC	0.602													7	64					0	0	0	0	A	68729708	G	A	68729708	3	1	184	1	0	0	0	0	1	0	0	0	3140	1261	44	4	2220	4	CDH3	16	68729708	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	759514	68729708	21625045	432	32544											
ZNF19	7567	broad.mit.edu	37	chr16	71510032	71510032	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttttcactgtggggatgtCctggtgcttttccacattac	6	17	9	9	0	1	0	1	0	0	0	3	1	3	1	2	3	2	1	2	3	1	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:71510032C>A	ENST00000288177.5	-	6	673	c.418G>T	c.(418-420)Gac>Tac	p.D140Y	ZNF19_ENST00000565100.2_Missense_Mutation_p.D70Y|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565637.1_Missense_Mutation_p.D98Y|ZNF19_ENST00000564230.1_Missense_Mutation_p.D140Y|AC010547.9_ENST00000561908.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	140						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GTGGGGATGTCCTGGTGCTTT	0.448													8	42					0.0381472	0.0384951	1	0	A	71510032	C	A	71510032	3	1	184	1	0	0	0	0	1	0	0	0	17850	855	30	2	962	2	ZNF19	16	71510032	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2780324	71510032	18844721	433	32545											
PMFBP1	83449	broad.mit.edu	37	chr16	72188118	72188118	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgtctatacctcatcttCtttcagtttgcagtgatggt	7	18	7	9	0	6	1	2	1	4	0	6	1	6	1	1	1	2	2	1	1	2	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:72188118C>G	ENST00000537465.1	-	4	564	c.406G>C	c.(406-408)Gaa>Caa	p.E136Q	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E136Q			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	136										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)				ACCTCATCTTCTTTCAGTTTG	0.463													19	99					0	0	0	0	G	72188118	C	G	72188118	3	3	184	1	0	0	0	0	1	0	0	0	12206	922	32	2	2749	2	PMFBP1	16	72188118	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	678086	72188118	18166635	434	32546											
PKD1L2	114780	broad.mit.edu	37	chr16	81209259	81209259	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctgcacgattggtggcaGaaataactactgtcagcaca	12	8	9	12	1	1	1	1	0	0	1	1	2	1	1	2	2	4	3	2	2	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:81209259G>C	ENST00000599697.1	-	15	2533	c.2534C>G	c.(2533-2535)tCt>tGt	p.S845C	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000531391.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	845	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATTGGTGGCAGAAATAACTAC	0.532													14	61					0	0	0	0	C	81209259	G	C	81209259	3	2	184	1	0	0	0	0	1	0	0	0	12037	942	33	2	5030	2	PKD1L2	16	81209259	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	9021141	81209259	9145494	435	32547											
SPG7	6687	broad.mit.edu	37	chr16	89597147	89597147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaagatggggaaaggagtCagcttcaaagacgtggcagg	13	5	18	5	1	2	2	2	0	0	2	2	5	2	5	0	6	1	2	0	6	3	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:89597147C>T	ENST00000268704.2	+	7	933	c.918C>T	c.(916-918)gtC>gtT	p.V306V	SPG7_ENST00000341316.2_Silent_p.V306V	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	306					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGAAAGGAGTCAGCTTCAAAG	0.517													8	79					0	0	0	0	T	89597147	C	T	89597147	2	4	184	1	0	0	0	0	0	0	0	1	15134	813	29	2		2	SPG7	16	89597147	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	8387888	89597147	757606	436	32548											
FANCA	2175	broad.mit.edu	37	chr16	89877208	89877208	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctaacagggaagacagcttCttctgaaaagagagattaca	16	9	9	7	0	3	4	0	1	3	3	3	6	3	5	0	1	3	1	0	1	5	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:89877208C>G	ENST00000389301.3	-	5	459	c.429G>C	c.(427-429)aaG>aaC	p.K143N	FANCA_ENST00000543736.1_Intron|FANCA_ENST00000389302.3_Missense_Mutation_p.K143N|FANCA_ENST00000568369.1_Missense_Mutation_p.K143N|FANCA_ENST00000563673.1_Missense_Mutation_p.K143N|FANCA_ENST00000534992.1_Missense_Mutation_p.K143N	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	143					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AAGACAGCTTCTTCTGAAAAG	0.348			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				20	105					0	0	0	0	G	89877208	C	G	89877208	3	3	184	1	0	0	0	0	1	0	0	0	5707	912	32	2	4099	2	FANCA	16	89877208	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	280061	89877208	477545	437	32549											
MYBBP1A	10514	broad.mit.edu	37	chr17	4457189	4457189	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcctgcagcagcttcacCgacttcatcagtgcctcctg	7	9	10	15	1	3	0	3	0	0	0	4	1	4	0	4	1	4	3	4	1	0	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:4457189C>G	ENST00000254718.4	-	5	783	c.477G>C	c.(475-477)tcG>tcC	p.S159S	MYBBP1A_ENST00000381556.2_Silent_p.S159S			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	159	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCAGCTTCACCGACTTCATCA	0.627													4	19					0	0	0	0	G	4457189	C	G	4457189	2	3	184	1	0	0	0	0	0	0	0	1	10078	639	23	3		3	MYBBP1A	17	4457189	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08		4457189	76738021	438	32550											
SMTNL2	342527	broad.mit.edu	37	chr17	4510765	4510765	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtcgctgtacaaccacCtgcgtcgcttcgagtaaagc	9	9	9	14	4	0	0	0	0	0	0	4	1	1	0	3	0	4	4	3	0	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:4510765C>T	ENST00000389313.4	+	8	1436	c.1369C>T	c.(1369-1371)Ctg>Ttg	p.L457L	SMTNL2_ENST00000338859.4_Silent_p.L313L	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	457										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		GTACAACCACCTGCGTCGCTT	0.617													22	94					0	0	0	0	T	4510765	C	T	4510765	2	4	184	1	0	0	0	0	0	0	0	1	14904	680	24	4		4	SMTNL2	17	4510765	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	53576	4510765	76684445	439	32551											
MIS12	79003	broad.mit.edu	37	chr17	5392414	5392414	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaggacattttgataacCtttttagcaaaatggagcaa	16	12	8	5	0	0	2	0	2	0	0	0	4	0	4	1	2	3	2	1	2	6	6	rs34335907		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:5392414C>G	ENST00000381165.3	+	3	785	c.232C>G	c.(232-234)Ctt>Gtt	p.L78V	MIS12_ENST00000573759.1_Missense_Mutation_p.L78V	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN	MIS12 kinetochore complex component	78					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						TTTTGATAACCTTTTTAGCAA	0.403													12	45					0	0	0	0	G	5392414	C	G	5392414	3	3	184	1	0	0	0	0	1	0	0	0	9663	681	24	4	234	4	MIS12	17	5392414	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	881649	5392414	75802796	440	32552											
MFSD6L	162387	broad.mit.edu	37	chr17	8700953	8700953	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcccgtaaaagtggcctcGgaacaaggcactcagagccc	12	5	10	14	2	1	1	1	0	0	1	3	2	2	2	3	3	2	2	3	3	4	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:8700953G>A	ENST00000329805.4	-	1	1714	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	496						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AAGTGGCCTCGGAACAAGGCA	0.612													9	32					0	0	0	0	A	8700953	G	A	8700953	4	1	184	1	0	0	0	0	0	1	0	0	9605	1124	39	1	278	1	MFSD6L	17	8700953	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3308539	8700953	72494257	441	32553											
NCOR1	9611	broad.mit.edu	37	chr17	15965063	15965063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttctaacctggcagcttCatgcttactctcttttgttt	5	20	5	11	0	4	0	1	0	3	0	5	0	4	0	1	1	4	4	1	1	2	8			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:15965063C>T	ENST00000268712.3	-	37	5790	c.5533G>A	c.(5533-5535)Gaa>Aaa	p.E1845K	NCOR1_ENST00000395857.3_Missense_Mutation_p.E429K|NCOR1_ENST00000395851.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1845	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGGCAGCTTCATGCTTACTC	0.507													24	113					0	0	0	0	T	15965063	C	T	15965063	3	4	184	1	0	0	0	0	1	0	0	0	10305	835	29	2	1829	2	NCOR1	17	15965063	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	7264110	15965063	65230147	442	32554											
PEMT	10400	broad.mit.edu	37	chr17	17409126	17409126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctcttgtgggacccGgaggctttctgccggtagat	5	11	13	12	2	2	1	0	0	2	1	3	3	3	3	3	4	2	3	3	4	1	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:17409126G>A	ENST00000255389.5	-	7	763	c.690C>T	c.(688-690)tcC>tcT	p.S230S	PEMT_ENST00000435340.2_3'UTR|PEMT_ENST00000395781.2_3'UTR|PEMT_ENST00000395783.1_Silent_p.S193S|PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000395782.1_Silent_p.S193S	NM_001267551.1|NM_148172.2	NP_001254480.1|NP_680477.1	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	193					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		TGTGGGACCCGGAGGCTTTCT	0.672													4	22					0	0	0	0	A	17409126	G	A	17409126	2	1	184	1	0	0	0	0	0	0	0	1	11797	1103	39	1		1	PEMT	17	17409126	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1444063	17409126	63786084	443	32555											
NLK	51701	broad.mit.edu	37	chr17	26518200	26518200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcaccaatcccaaatttGatgacactttcgagaagaac	14	10	6	11	1	1	4	1	2	0	2	3	5	2	4	2	0	1	0	2	0	4	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:26518200G>A	ENST00000407008.3	+	9	2108	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	464					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCCCAAATTTGATGACACTTT	0.428													10	57					0	0	0	0	A	26518200	G	A	26518200	3	1	184	1	0	0	0	0	1	0	0	0	10536	1290	45	2	1424	2	NLK	17	26518200	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	9109074	26518200	54677010	444	32556											
KIAA0100	9703	broad.mit.edu	37	chr17	26943185	26943185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgttcatggcagctcgctCtttcatcttgtcaatgtcat	6	17	8	10	1	6	0	4	0	2	0	7	0	6	0	0	1	1	5	0	1	1	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:26943185C>T	ENST00000528896.2	-	37	6393	c.6319G>A	c.(6319-6321)Gag>Aag	p.E2107K	KIAA0100_ENST00000544884.1_Missense_Mutation_p.E1964K|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.E1964K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2107						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCAGCTCGCTCTTTCATCTTG	0.483													4	56					0	0	0	0	T	26943185	C	T	26943185	3	4	184	1	0	0	0	0	1	0	0	0	8205	922	32	2	400	2	KIAA0100	17	26943185	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	424985	26943185	54252025	445	32557											
ATAD5	79915	broad.mit.edu	37	chr17	29161435	29161435	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaatgtagagtttaagaaGaaaagaaagagggttaattt	19	11	10	1	0	1	5	1	0	0	5	1	5	1	5	0	1	0	3	0	1	8	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29161435G>C	ENST00000321990.4	+	2	714	c.336G>C	c.(334-336)aaG>aaC	p.K112N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	112					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGTTTAAGAAGAAAAGAAAGA	0.338													15	136					0	0	0	0	C	29161435	G	C	29161435	3	2	184	1	0	0	0	0	1	0	0	0	1080	933	33	2	342	2	ATAD5	17	29161435	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2218250	29161435	52033775	446	32558			1	46		10	10	2851	G		5.782985e-18
ATAD5	79915	broad.mit.edu	37	chr17	29161585	29161585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttctgttttacgttacaaGaaacaagtagaggtacttgc	13	13	8	7	1	1	2	0	0	1	2	1	2	1	2	0	1	5	4	0	1	7	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29161585G>C	ENST00000321990.4	+	2	864	c.486G>C	c.(484-486)aaG>aaC	p.K162N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	162					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TACGTTACAAGAAACAAGTAG	0.313													16	197					0	0	0	0	C	29161585	G	C	29161585	3	2	184	1	0	0	0	0	1	0	0	0	1080	933	33	2	492	2	ATAD5	17	29161585	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	150	29161585	52033625	447	32559			1	46		10	10	2851	G		5.782985e-18
ATAD5	79915	broad.mit.edu	37	chr17	29161714	29161714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaatgacttcaaaaagttGagaaaaaggaaatgcagaga	23	6	9	3	0	1	3	1	2	0	2	1	6	1	4	0	1	1	2	0	1	7	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29161714G>C	ENST00000321990.4	+	2	993	c.615G>C	c.(613-615)ttG>ttC	p.L205F	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	205					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCAAAAAGTTGAGAAAAAGGA	0.328													23	141					0	0	0	0	C	29161714	G	C	29161714	3	2	184	1	0	0	0	0	1	0	0	0	1080	1281	45	2	621	2	ATAD5	17	29161714	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	129	29161714	52033496	448	32560			1	46		10	10	2851	G		5.782985e-18
ATAD5	79915	broad.mit.edu	37	chr17	29161793	29161793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactaaatttgcttaaaaaaGatggtaaagatactaaacag	21	10	6	4	0	0	2	0	0	0	2	0	2	0	2	0	1	4	2	0	1	11	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29161793G>C	ENST00000321990.4	+	2	1072	c.694G>C	c.(694-696)Gat>Cat	p.D232H	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	232					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GCTTAAAAAAGATGGTAAAGA	0.338													16	126					0	0	0	0	C	29161793	G	C	29161793	3	2	184	1	0	0	0	0	1	0	0	0	1080	942	33	2	700	2	ATAD5	17	29161793	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	79	29161793	52033417	449	32561			1	46		10	10	2851	G		5.782985e-18
ATAD5	79915	broad.mit.edu	37	chr17	29162131	29162131	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaataccccgaattttcttGaaacaaaagcaatttgaaat	19	11	4	7	1	1	2	0	2	1	0	1	3	1	2	2	0	3	1	2	0	9	5	rs111343309	by1000genomes	TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29162131G>A	ENST00000321990.4	+	2	1410	c.1032G>A	c.(1030-1032)ttG>ttA	p.L344L	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	344					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAATTTTCTTGAAACAAAAGC	0.378													9	42					0	0	0	0	A	29162131	G	A	29162131	2	1	184	1	0	0	0	0	0	0	0	1	1080	1281	45	2		2	ATAD5	17	29162131	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	338	29162131	52033079	450	32562			1	46		10	10	2851	G		5.782985e-18
ATAD5	79915	broad.mit.edu	37	chr17	29162199	29162199	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaacagacagttcagaaaaGaaaatctaatgttgttatac	18	11	7	5	0	2	4	1	1	1	3	2	4	2	4	0	0	2	3	0	0	8	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29162199G>C	ENST00000321990.4	+	2	1478	c.1100G>C	c.(1099-1101)aGa>aCa	p.R367T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	367					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GTTCAGAAAAGAAAATCTAAT	0.343													11	50					0	0	0	0	C	29162199	G	C	29162199	3	2	184	1	0	0	0	0	1	0	0	0	1080	942	33	2	1106	2	ATAD5	17	29162199	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	68	29162199	52033011	451	32563			1	46		10	10	2851	G		5.782985e-18
ATAD5	79915	broad.mit.edu	37	chr17	29162272	29162272	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctggaagttctgaagctgtGaaaccaaaatgcactctaga	14	9	10	8	0	2	3	0	2	2	1	2	4	2	4	1	1	3	4	1	1	6	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29162272G>A	ENST00000321990.4	+	2	1551	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	391					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTGAAGCTGTGAAACCAAAAT	0.363													15	72					0	0	0	0	A	29162272	G	A	29162272	2	1	184	1	0	0	0	0	0	0	0	1	1080	1277	45	2		2	ATAD5	17	29162272	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	73	29162272	52032938	452	32564			1	46		10	10	2851	G		5.782985e-18
ATAD5	79915	broad.mit.edu	37	chr17	29162420	29162420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatatgaagtaggaagagatGataattctaaaaaaatcatg	20	11	8	2	0	2	3	1	2	1	1	2	5	2	4	0	1	0	1	0	1	10	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29162420G>A	ENST00000321990.4	+	2	1699	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	441					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGAAGAGATGATAATTCTAA	0.323													10	63					0	0	0	0	A	29162420	G	A	29162420	3	1	184	1	0	0	0	0	1	0	0	0	1080	1290	45	2	1327	2	ATAD5	17	29162420	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	148	29162420	52032790	453	32565			1	46		10	10	2851	G		5.782985e-18
ATAD5	79915	broad.mit.edu	37	chr17	29162726	29162726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaaagtcttgtttatgaaGatatagcaaatgatgacctt	15	14	8	4	0	1	5	0	4	1	1	1	5	1	5	1	0	1	2	1	0	6	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29162726G>A	ENST00000321990.4	+	2	2005	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	543					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGTTTATGAAGATATAGCAAA	0.289													20	70					0	0	0	0	A	29162726	G	A	29162726	3	1	184	1	0	0	0	0	1	0	0	0	1080	942	33	2	1633	2	ATAD5	17	29162726	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	306	29162726	52032484	454	32566			1	46		10	10	2851	G		5.782985e-18
ATAD5	79915	broad.mit.edu	37	chr17	29164285	29164285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaatctaacaaaagatctGagaaatctgaagcaactgat	21	8	6	6	0	3	4	0	3	3	2	3	5	3	4	0	0	3	1	0	0	8	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29164285G>A	ENST00000321990.4	+	3	2407	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	677					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				caaaagatctgagaaaTCTGA	0.289													11	51					0	0	0	0	A	29164285	G	A	29164285	3	1	184	1	0	0	0	0	1	0	0	0	1080	1291	45	2	2039	2	ATAD5	17	29164285	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1559	29164285	52030925	455	32567			1	46		10	10	2851	G		5.782985e-18
LRRC37B	114659	broad.mit.edu	37	chr17	30349317	30349317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaccttcttctacagccctGaggactacagatcctcctcc	9	10	6	16	0	2	2	0	1	2	1	5	4	5	3	5	1	4	0	5	1	3	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:30349317G>A	ENST00000327564.7	+	1	1294	c.1233G>A	c.(1231-1233)ctG>ctA	p.L411L	LRRC37B_ENST00000584368.1_Silent_p.L396L|LRRC37B_ENST00000341671.7_Silent_p.L384L|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000394713.3_Silent_p.L384L|LRRC37B_ENST00000543378.2_Silent_p.L302L			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	384						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTACAGCCCTGAGGACTACAG	0.542													32	193					0	0	0	0	A	30349317	G	A	30349317	2	1	184	1	0	0	0	0	0	0	0	1	9058	1277	45	2		2	LRRC37B	17	30349317	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1185032	30349317	50845893	456	32568											
LRRC37B	114659	broad.mit.edu	37	chr17	30376174	30376174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacggtccctcatccccaacGaggatgtgagaaagttcatg	11	9	10	11	2	2	1	2	1	0	1	4	4	4	2	3	2	2	1	3	2	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:30376174G>A	ENST00000327564.7	+	10	2579	c.2518G>A	c.(2518-2520)Gag>Aag	p.E840K	LRRC37B_ENST00000584368.1_Missense_Mutation_p.E774K|LRRC37B_ENST00000341671.7_Missense_Mutation_p.E813K|LRRC37B_ENST00000394713.3_Missense_Mutation_p.E762K|LRRC37B_ENST00000543378.2_Missense_Mutation_p.E731K			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	813						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CATCCCCAACGAGGATGTGAG	0.498													22	105					0	0	0	0	A	30376174	G	A	30376174	3	1	184	1	0	0	0	0	1	0	0	0	9058	1059	37	1	2475	1	LRRC37B	17	30376174	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	26857	30376174	50819036	457	32569											
SRCIN1	80725	broad.mit.edu	37	chr17	36704795	36704795	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgtgccctgacctacctCtagctctgcgatgatgcgat	7	11	11	12	2	2	2	0	2	2	0	2	4	2	2	3	1	5	1	3	1	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:36704795C>G	ENST00000264659.7	-	17	3492	c.3268G>C	c.(3268-3270)Gag>Cag	p.E1090Q	SRCIN1_ENST00000578925.1_Missense_Mutation_p.E1124Q|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	962					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TGACCTACCTCTAGCTCTGCG	0.662													11	58					0	0	0	0	G	36704795	C	G	36704795	3	3	184	1	0	0	0	0	1	0	0	0	15226	922	32	2	295	2	SRCIN1	17	36704795	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	6328621	36704795	44490415	458	32570											
SRCIN1	80725	broad.mit.edu	37	chr17	36704826	36704826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgcgatcctcgtcatcCtcgtccttgatggccgaggc	6	11	11	13	4	1	2	1	2	0	0	6	4	4	2	4	2	1	0	4	2	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:36704826C>T	ENST00000264659.7	-	17	3461	c.3237G>A	c.(3235-3237)gaG>gaA	p.E1079E	SRCIN1_ENST00000578925.1_Silent_p.E1113E|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	951					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CCTCGTCATCCTCGTCCTTGA	0.667													11	59					0	0	0	0	T	36704826	C	T	36704826	2	4	184	1	0	0	0	0	0	0	0	1	15226	680	24	4		4	SRCIN1	17	36704826	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	31	36704826	44490384	459	32571											
MLLT6	4302	broad.mit.edu	37	chr17	36876644	36876644	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtggagatgctgaaggcGctgcacgcgctgcagaagga	9	6	17	9	4	0	3	0	1	0	2	1	5	0	4	0	3	3	5	0	3	2	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:36876644G>C	ENST00000325718.7	+	15	2266	c.2175G>C	c.(2173-2175)gcG>gcC	p.A725A		NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	725					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TGCTGAAGGCGCTGCACGCGC	0.682			T	MLL	AL								4	24					0	0	0	0	C	36876644	G	C	36876644	2	2	184	1	0	0	0	0	0	0	0	1	9699	1074	38	3		3	MLLT6	17	36876644	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	171818	36876644	44318566	460	32572											
PNMT	5409	broad.mit.edu	37	chr17	37826388	37826388	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccagctttcagcgggccctgGaccacatcaccacgctgctg	7	7	10	17	2	2	0	2	0	0	0	2	1	2	1	4	2	3	3	4	2	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:37826388G>C	ENST00000269582.2	+	3	913	c.595G>C	c.(595-597)Gac>Cac	p.D199H	PNMT_ENST00000394246.1_Missense_Mutation_p.D101H	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	199					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCGGGCCCTGGACCACATCAC	0.682													6	40					0	0	0	0	C	37826388	G	C	37826388	3	2	184	1	0	0	0	0	1	0	0	0	12231	1174	41	2	605	2	PNMT	17	37826388	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	949744	37826388	43368822	461	32573											
GRB7	2886	broad.mit.edu	37	chr17	37900456	37900456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactccaccaagggcacctCtaaggtaaggtcttgagggt	10	10	11	10	0	2	1	0	1	2	0	3	1	3	1	3	4	1	2	3	4	4	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:37900456C>A	ENST00000309156.4	+	7	1054	c.797C>A	c.(796-798)tCt>tAt	p.S266Y	GRB7_ENST00000309185.3_Missense_Mutation_p.S266Y|GRB7_ENST00000394204.1_Missense_Mutation_p.S266Y|GRB7_ENST00000445327.2_Missense_Mutation_p.S289Y|GRB7_ENST00000394211.3_Missense_Mutation_p.S266Y|GRB7_ENST00000394209.2_Missense_Mutation_p.S266Y	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	266	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAGGGCACCTCTAAGGTAAGG	0.572													17	186					5.03518e-11	5.34938e-11	1	0	A	37900456	C	A	37900456	3	1	184	1	0	0	0	0	1	0	0	0	6809	913	32	2	819	2	GRB7	17	37900456	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	74068	37900456	43294754	462	32574											
RAPGEFL1	51195	broad.mit.edu	37	chr17	38348898	38348898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctaccgagaagtgatctCcaaaatgaagccccctgtga	14	7	9	11	1	1	4	0	3	1	1	2	5	1	4	4	0	3	1	4	0	6	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:38348898C>A	ENST00000436615.3	+	12	1569	c.1079C>A	c.(1078-1080)tCc>tAc	p.S360Y	RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.S360Y|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.S415Y|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.S409Y	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	566					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GAAGTGATCTCCAAAATGAAG	0.527													38	233					4.67007e-22	5.03397e-22	1	0	A	38348898	C	A	38348898	3	1	184	1	0	0	0	0	1	0	0	0	13131	855	30	2	1117	2	RAPGEFL1	17	38348898	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	448442	38348898	42846312	463	32575											
TMEM101	84336	broad.mit.edu	37	chr17	42092252	42092252	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccaaaaggggcagcgtgtGagcagcaccgaacccaactg	12	3	12	14	2	0	1	0	1	0	0	0	2	0	1	4	2	5	3	4	2	4	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:42092252G>A	ENST00000589334.1	-	2	384	c.69C>T	c.(67-69)ctC>ctT	p.L23L	TMEM101_ENST00000542039.1_Intron|TMEM101_ENST00000206380.3_Silent_p.L23L|TMEM101_ENST00000587529.1_Silent_p.L23L			Q96IK0	TM101_HUMAN	transmembrane protein 101	23					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGCAGCGTGTGAGCAGCACCG	0.627													22	63					0	0	0	0	A	42092252	G	A	42092252	2	1	184	1	0	0	0	0	0	0	0	1	16110	1277	45	2		2	TMEM101	17	42092252	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3743354	42092252	39102958	464	32576											
G6PC3	92579	broad.mit.edu	37	chr17	42153206	42153206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtgcgtcgggcacagctggGaaatggccagaagatagcct	10	6	16	9	2	0	2	0	0	0	2	1	3	0	3	2	4	3	2	2	4	3	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:42153206G>A	ENST00000269097.4	+	6	1067	c.836G>A	c.(835-837)gGa>gAa	p.G279E		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	279					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCACAGCTGGGAAATGGCCAG	0.652													12	52					0	0	0	0	A	42153206	G	A	42153206	3	1	184	1	0	0	0	0	1	0	0	0	6193	1174	41	2	858	2	G6PC3	17	42153206	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	60954	42153206	39042004	465	32577											
NMT1	4836	broad.mit.edu	37	chr17	43171126	43171126	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggagccctacaccctgccCcagggcttcacctgggatgc	7	6	11	17	0	1	0	1	0	0	0	1	2	1	2	5	3	4	1	5	3	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:43171126C>G	ENST00000592782.1	+	5	590	c.459C>G	c.(457-459)ccC>ccG	p.P153P	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Silent_p.P153P			P30419	NMT1_HUMAN	N-myristoyltransferase 1	153					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				ACACCCTGCCCCAGGGCTTCA	0.597													9	54					0	0	0	0	G	43171126	C	G	43171126	2	3	184	1	0	0	0	0	0	0	0	1	10573	610	22	4		4	NMT1	17	43171126	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1017920	43171126	38024084	466	32578											
COPZ2	51226	broad.mit.edu	37	chr17	46111232	46111232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagggggacacttactctCagtccggctggtcttgttga	8	11	13	9	1	2	2	1	1	2	1	4	3	3	3	1	4	1	2	1	4	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:46111232C>T	ENST00000006101.4	-	4	258	c.259G>A	c.(259-261)Gag>Aag	p.E87K	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	89					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat				lung(3)|upper_aerodigestive_tract(1)	4						CACTTACTCTCAGTCCGGCTG	0.483													3	20					0	0	0	0	T	46111232	C	T	46111232	3	4	184	1	0	0	0	0	1	0	0	0	3772	835	29	2	395	2	COPZ2	17	46111232	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2940106	46111232	35083978	467	32579											
HOXB8	3218	broad.mit.edu	37	chr17	46690757	46690757	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgtcagtcccagggcgtgcGatacctcgattcgccgctta	6	10	11	14	5	1	0	1	0	0	0	4	2	2	0	3	1	2	1	3	1	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:46690757G>C	ENST00000239144.4	-	2	773	c.539C>G	c.(538-540)tCg>tGg	p.S180W	HOXB8_ENST00000576562.1_Missense_Mutation_p.S179W|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	180						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CAGGGCGTGCGATACCTCGAT	0.532													11	93					0	0	0	0	C	46690757	G	C	46690757	3	2	184	1	0	0	0	0	1	0	0	0	7357	1059	37	3	196	3	HOXB8	17	46690757	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	579525	46690757	34504453	468	32580											
USP32	84669	broad.mit.edu	37	chr17	58282903	58282903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatttgtgaagttcttctCagttccacatggcacaacag	10	13	7	11	0	2	1	1	1	2	0	5	1	4	1	2	1	1	3	2	1	2	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:58282903C>T	ENST00000300896.4	-	26	3348	c.3154G>A	c.(3154-3156)Gag>Aag	p.E1052K	USP32_ENST00000592339.1_Missense_Mutation_p.E722K	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1052					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AAGTTCTTCTCAGTTCCACAT	0.443													11	78					0	0	0	0	T	58282903	C	T	58282903	3	4	184	1	0	0	0	0	1	0	0	0	17159	835	29	2	1696	2	USP32	17	58282903	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	11592146	58282903	22912307	469	32581											
TLK2	11011	broad.mit.edu	37	chr17	60598187	60598187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtgcagcgtcggatccttGagtgataaagaagtagaggt	11	11	14	5	2	0	4	0	2	0	2	2	5	1	5	1	2	2	2	1	2	4	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:60598187G>C	ENST00000326270.9	+	3	403	c.135G>C	c.(133-135)ttG>ttC	p.L45F	TLK2_ENST00000343388.7_Missense_Mutation_p.L45F|TLK2_ENST00000542523.1_Missense_Mutation_p.L45F|TLK2_ENST00000346027.5_Missense_Mutation_p.L45F|TLK2_ENST00000582809.1_5'UTR			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	45					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TCGGATCCTTGAGTGATAAAG	0.408													12	79					0	0	0	0	C	60598187	G	C	60598187	3	2	184	1	0	0	0	0	1	0	0	0	16038	1281	45	2	141	2	TLK2	17	60598187	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2315284	60598187	20597023	470	32582											
LIMD2	80774	broad.mit.edu	37	chr17	61776232	61776232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgtcggccaccagccgctCcatggggtacacggtcttct	5	10	11	15	3	2	0	0	0	2	0	4	0	3	0	4	4	2	2	4	4	1	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:61776232C>T	ENST00000259006.3	-	4	309	c.151G>A	c.(151-153)Gag>Aag	p.E51K	LIMD2_ENST00000583211.1_Missense_Mutation_p.E2K|LIMD2_ENST00000578993.1_Intron|LIMD2_ENST00000582055.1_Missense_Mutation_p.E2K|LIMD2_ENST00000578402.1_Missense_Mutation_p.E51K|LIMD2_ENST00000578061.1_Missense_Mutation_p.E51K	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	51	LIM zinc-binding.						zinc ion binding			kidney(1)|lung(2)	3						ACCAGCCGCTCCATGGGGTAC	0.657													12	74					0	0	0	0	T	61776232	C	T	61776232	3	4	184	1	0	0	0	0	1	0	0	0	8853	864	30	2	240	2	LIMD2	17	61776232	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1178045	61776232	19418978	471	32583											
PRKCA	5578	broad.mit.edu	37	chr17	64683318	64683318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattcctgatcccaagaatGaaagcaagcaaaaaaccaaa	20	7	5	9	0	0	3	0	2	0	1	2	3	2	3	3	0	3	2	3	0	9	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:64683318G>A	ENST00000413366.3	+	6	645	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	207	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TCCCAAGAATGAAAGCAAGCA	0.408													27	127					0	0	0	0	A	64683318	G	A	64683318	3	1	184	1	0	0	0	0	1	0	0	0	12587	1291	45	2	641	2	PRKCA	17	64683318	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2907086	64683318	16511892	472	32584											
HELZ	9931	broad.mit.edu	37	chr17	65147302	65147302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagtactgatgcacaactGggtggacagtctttacccag	12	9	10	10	0	1	1	0	1	1	0	1	2	1	2	1	2	5	2	1	2	4	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:65147302G>A	ENST00000358691.5	-	18	2382	c.2216C>T	c.(2215-2217)cCa>cTa	p.P739L	HELZ_ENST00000580168.1_Missense_Mutation_p.P740L	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATGCACAACTGGGTGGACAGT	0.373													21	87					0	0	0	0	A	65147302	G	A	65147302	3	1	184	1	0	0	0	0	1	0	0	0	7099	1348	47	4	3676	4	HELZ	17	65147302	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	463984	65147302	16047908	473	32585											
KPNA2	3838	broad.mit.edu	37	chr17	66039309	66039309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgctgttgagcagattcttCctaccttagttcggctcctg	6	15	9	11	1	1	2	0	1	1	1	4	2	3	2	3	1	3	5	3	1	2	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:66039309C>T	ENST00000537025.2	+	7	1380	c.760C>T	c.(760-762)Cct>Tct	p.P254S	KPNA2_ENST00000330459.3_Missense_Mutation_p.P254S			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	254					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCAGATTCTTCCTACCTTAGT	0.468													50	290					0	0	0	0	T	66039309	C	T	66039309	3	4	184	1	0	0	0	0	1	0	0	0	8482	855	30	2	782	2	KPNA2	17	66039309	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	892007	66039309	15155901	474	32586											
KPNA2	3838	broad.mit.edu	37	chr17	66042035	66042035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagaagtatttctctgtaGaggtgagtaatggatggtaa	12	14	13	2	0	1	3	0	2	1	2	2	5	1	4	0	3	0	4	0	3	5	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:66042035G>A	ENST00000537025.2	+	10	2115	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	KPNA2_ENST00000582898.1_3'UTR|KPNA2_ENST00000330459.3_Missense_Mutation_p.E499K			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	499	Poly-Glu.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCTCTGTAGAGGTGAGTAA	0.328													23	102					0	0	0	0	A	66042035	G	A	66042035	3	1	184	1	0	0	0	0	1	0	0	0	8482	943	33	2	1529	2	KPNA2	17	66042035	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2726	66042035	15153175	475	32587											
GGA3	23163	broad.mit.edu	37	chr17	73237033	73237033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagggaggattgggatgcctGaggagggtggagtaggtgct	8	8	22	3	0	0	1	0	1	0	0	0	7	0	6	1	7	2	2	1	7	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:73237033G>A	ENST00000245541.6	-	11	1268	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	GGA3_ENST00000351904.7_Missense_Mutation_p.S318L|GGA3_ENST00000538886.1_Missense_Mutation_p.S229L|GGA3_ENST00000582486.1_Missense_Mutation_p.S279L|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000578348.1_Missense_Mutation_p.S229L|GGA3_ENST00000582717.1_Missense_Mutation_p.S279L	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	351	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TGGGATGCCTGAGGAGGGTGG	0.647											OREG0024730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	56					0	0	0	0	A	73237033	G	A	73237033	3	1	184	1	0	0	0	0	1	0	0	0	6405	1294	45	2	1235	2	GGA3	17	73237033	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	7194998	73237033	7958177	476	32588											
TRIM65	201292	broad.mit.edu	37	chr17	73887415	73887415	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgctgactggatcaaaggtCagattgcgataatctgttgg	10	11	13	7	2	3	2	2	1	1	1	3	4	3	3	0	3	1	2	0	3	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:73887415C>T	ENST00000269383.3	-	6	1064	c.999G>A	c.(997-999)ctG>ctA	p.L333L		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	333	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GATCAAAGGTCAGATTGCGAT	0.597													8	19					0	0	0	0	T	73887415	C	T	73887415	2	4	184	1	0	0	0	0	0	0	0	1	16634	813	29	2		2	TRIM65	17	73887415	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	650382	73887415	7307795	477	32589											
TNRC6C	57690	broad.mit.edu	37	chr17	76045388	76045388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactatgattggagatgggaGaagtcagaattgctggggtg	11	10	16	4	0	1	4	1	1	0	3	1	6	1	4	0	4	1	1	0	4	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:76045388G>A	ENST00000335749.4	+	3	814	c.245G>A	c.(244-246)aGa>aAa	p.R82K	TNRC6C_ENST00000588847.1_Missense_Mutation_p.R82K|TNRC6C_ENST00000588061.1_Missense_Mutation_p.R82K|TNRC6C_ENST00000544502.1_Missense_Mutation_p.R82K|TNRC6C_ENST00000301624.4_Missense_Mutation_p.R82K|TNRC6C_ENST00000541771.1_Missense_Mutation_p.R82K	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	82	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGAGATGGGAGAAGTCAGAAT	0.522													15	79					0	0	0	0	A	76045388	G	A	76045388	3	1	184	1	0	0	0	0	1	0	0	0	16436	942	33	2	247	2	TNRC6C	17	76045388	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2157973	76045388	5149822	478	32590											
LGALS3BP	3959	broad.mit.edu	37	chr17	76967746	76967746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgccgggcaggggaaggagGaggtgctcttcgagctgttg	6	8	19	8	2	1	0	0	0	1	0	2	4	1	3	1	6	3	4	1	6	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:76967746G>A	ENST00000262776.3	-	6	1978	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	557					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	p.S557F(2)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGGGAAGGAGGAGGTGCTCTT	0.632											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	55					0	0	0	0	A	76967746	G	A	76967746	3	1	184	1	0	0	0	0	1	0	0	0	8797	1174	41	2	91	2	LGALS3BP	17	76967746	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	922358	76967746	4227464	479	32591											
CARD14	79092	broad.mit.edu	37	chr17	78156549	78156549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgacgtctacaccctggtCaccgggctgcagcctgatgt	6	9	11	15	2	2	2	1	2	1	0	2	2	2	2	4	2	3	2	4	2	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:78156549C>T	ENST00000573882.1	+	5	845	c.309C>T	c.(307-309)gtC>gtT	p.V103V	CARD14_ENST00000570421.1_Silent_p.V103V|CARD14_ENST00000344227.2_Silent_p.V103V			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	103	CARD.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACACCCTGGTCACCGGGCTGC	0.557													8	35					0	0	0	0	T	78156549	C	T	78156549	2	4	184	1	0	0	0	0	0	0	0	1	2671	813	29	2		2	CARD14	17	78156549	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1188803	78156549	3038661	480	32592											
RNF213	57674	broad.mit.edu	37	chr17	78320513	78320513	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagggcccggctgcctactCagatctcttccgcagcctga	6	8	11	16	2	2	2	1	1	1	1	4	2	3	2	4	2	3	3	4	2	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:78320513C>G	ENST00000582970.1	+	29	8521	c.8378C>G	c.(8377-8379)tCa>tGa	p.S2793*	RNF213_ENST00000508628.2_Nonsense_Mutation_p.S2842*|RNF213_ENST00000336301.6_Nonsense_Mutation_p.S866*	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCTGCCTACTCAGATCTCTTC	0.642													4	11					0	0	0	0	G	78320513	C	G	78320513	4	3	184	1	0	0	0	0	0	1	0	0	13562	838	29	2	8807	2	RNF213	17	78320513	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	163964	78320513	2874697	481	32593											
FN3KRP	79672	broad.mit.edu	37	chr17	80674690	80674690	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagggccacgggccactCggggggcgggtgcatcagcc	5	5	18	13	3	2	0	2	0	0	0	3	0	2	0	3	6	2	1	3	6	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:80674690C>A	ENST00000269373.6	+	1	132	c.59C>A	c.(58-60)tCg>tAg	p.S20*	FN3KRP_ENST00000535965.1_5'UTR	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	20							kinase activity	p.G23fs*31(1)		breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ACGGGCCACTCGGGGGGCGGG	0.706													5	19					0.00116845	0.00119178	1	0	A	80674690	C	A	80674690	4	1	184	1	0	0	0	0	0	1	0	0	6009	893	31	3	61	3	FN3KRP	17	80674690	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2354177	80674690	520520	482	32594											
ZNF750	79755	broad.mit.edu	37	chr17	80788498	80788498	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaccggggaaggcaggcctCggagcctgggtgttacaggg	7	5	19	10	3	0	0	0	0	0	0	1	3	0	2	3	7	2	2	3	7	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:80788498C>T	ENST00000269394.3	-	3	2525	c.1692G>A	c.(1690-1692)ccG>ccA	p.P564P	ZNF750_ENST00000572562.1_Silent_p.P165P|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	564						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCAGGCCTCGGAGCCTGGG	0.627													14	57					0	0	0	0	T	80788498	C	T	80788498	2	4	184	1	0	0	0	0	0	0	0	1	18226	871	31	1		1	ZNF750	17	80788498	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	113808	80788498	406712	483	32595											
ZNF750	79755	broad.mit.edu	37	chr17	80789280	80789280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagaccagggtggcttcttCaagcaggtgagagctctgat	10	10	13	8	0	3	3	1	2	2	2	3	4	3	3	1	3	2	3	1	3	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:80789280C>T	ENST00000269394.3	-	2	1884	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	351						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GTGGCTTCTTCAAGCAGGTGA	0.532													32	129					0	0	0	0	T	80789280	C	T	80789280	3	4	184	1	0	0	0	0	1	0	0	0	18226	835	29	2	1128	2	ZNF750	17	80789280	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	782	80789280	405930	484	32596											
ZNF750	79755	broad.mit.edu	37	chr17	80790150	80790150	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttagggcacttgggaactcGatcctgctctgatactaaag	10	12	10	9	1	1	1	0	1	1	0	3	3	2	2	1	2	3	2	1	2	5	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:80790150G>A	ENST00000269394.3	-	2	1014	c.181C>T	c.(181-183)Cga>Tga	p.R61*	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	61						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTGGGAACTCGATCCTGCTCT	0.448													15	63					0	0	0	0	A	80790150	G	A	80790150	4	1	184	1	0	0	0	0	0	1	0	0	18226	1066	37	1	1998	1	ZNF750	17	80790150	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	870	80790150	405060	485	32597											
CLUL1	27098	broad.mit.edu	37	chr18	627346	627346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcagatacagacctaactGagccttacttttttccagct	11	14	5	11	0	1	3	1	1	0	2	2	3	2	3	3	0	5	1	3	0	4	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr18:627346G>A	ENST00000581619.1	+	5	1595	c.748G>A	c.(748-750)Gag>Aag	p.E250K	CLUL1_ENST00000540035.1_Missense_Mutation_p.E277K|CLUL1_ENST00000579494.1_Missense_Mutation_p.E225K|CLUL1_ENST00000400606.2_Missense_Mutation_p.E225K|CLUL1_ENST00000338387.7_Missense_Mutation_p.E225K			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	225					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AGACCTAACTGAGCCTTACTT	0.388													16	115					0	0	0	0	A	627346	G	A	627346	3	1	184	1	0	0	0	0	1	0	0	0	3600	1291	45	2	687	2	CLUL1	18	627346	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08		627346	77449902	486	32598											
ASXL3	80816	broad.mit.edu	37	chr18	31324832	31324832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgaaatctgaacttcacGaagcagacaagggctttaga	14	9	10	8	1	2	4	1	2	1	2	2	5	2	4	0	1	2	2	0	1	5	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr18:31324832G>A	ENST00000269197.5	+	12	5020	c.5020G>A	c.(5020-5022)Gaa>Aaa	p.E1674K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAACTTCACGAAGCAGACAA	0.478													12	63					0	0	0	0	A	31324832	G	A	31324832	3	1	184	1	0	0	0	0	1	0	0	0	1072	1059	37	1	5066	1	ASXL3	18	31324832	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	30697486	31324832	46752416	487	32599											
ASXL3	80816	broad.mit.edu	37	chr18	31325319	31325319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagagtagctaggactgtagGagaacacactcaagttaaat	16	8	11	6	0	1	2	1	0	0	2	1	5	1	3	0	2	2	4	0	2	7	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr18:31325319G>A	ENST00000269197.5	+	12	5507	c.5507G>A	c.(5506-5508)gGa>gAa	p.G1836E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1836					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGGACTGTAGGAGAACACACT	0.483													44	210					0	0	0	0	A	31325319	G	A	31325319	3	1	184	1	0	0	0	0	1	0	0	0	1072	1174	41	2	5553	2	ASXL3	18	31325319	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	487	31325319	46751929	488	32600											
SLC39A6	25800	broad.mit.edu	37	chr18	33689584	33689584	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatacgaaacacgattttaTgttcaaatatggaaataagt	17	14	6	4	2	1	0	1	0	0	0	1	3	1	1	0	1	2	1	0	1	8	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr18:33689584T>A	ENST00000269187.5	-	10	2453	c.2240A>T	c.(2239-2241)cAt>cTt	p.H747L	SLC39A6_ENST00000590986.1_Missense_Mutation_p.H747L	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	747						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CACGATTTTATGTTCAAATAT	0.353													21	118					0	0	0	0	A	33689584	T	A	33689584	3	1	184	1	0	0	0	0	1	0	0	0	14710	1464	51	5	31	5	SLC39A6	18	33689584	Missense_Mutation	SNP	T	TCGA-CR-6481-01A-11D-1870-08	2364265	33689584	44387664	489	32601											
CCBE1	147372	broad.mit.edu	37	chr18	57363888	57363888	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtggtgagctcgcctgaaGacttcagacacgggtattta	10	11	12	8	2	1	4	1	2	0	2	2	4	1	4	1	2	1	2	1	2	3	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr18:57363888G>C	ENST00000439986.4	-	2	222	c.185C>G	c.(184-186)tCt>tGt	p.S62C	RP11-2N1.2_ENST00000588946.1_RNA	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	62					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CTCGCCTGAAGACTTCAGACA	0.572											OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	117					0	0	0	0	C	57363888	G	C	57363888	3	2	184	1	0	0	0	0	1	0	0	0	2756	942	33	2	1075	2	CCBE1	18	57363888	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	23674304	57363888	20713360	490	32602											
ZNF554	115196	broad.mit.edu	37	chr19	2834250	2834250	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaaccggaggcattctttGagcgaacatcaaagaattca	14	10	8	9	2	4	2	3	1	1	1	4	4	4	3	1	2	3	1	1	2	4	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:2834250G>C	ENST00000317243.5	+	5	1215	c.1017G>C	c.(1015-1017)ttG>ttC	p.L339F		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		GGCATTCTTTGAGCGAACATC	0.537													9	66					0	0	0	0	C	2834250	G	C	2834250	3	2	184	1	0	0	0	0	1	0	0	0	18080	1281	45	2	1035	2	ZNF554	19	2834250	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08		2834250	56294733	491	32603											
ZNF554	115196	broad.mit.edu	37	chr19	2834551	2834551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagccctacgaatgcagtGaatgtggaaaggccttcagt	13	8	12	8	1	1	2	1	1	0	1	1	4	1	3	2	2	3	1	2	2	5	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:2834551G>A	ENST00000317243.5	+	5	1516	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		CGAATGCAGTGAATGTGGAAA	0.522													8	40					0	0	0	0	A	2834551	G	A	2834551	3	1	184	1	0	0	0	0	1	0	0	0	18080	1291	45	2	1336	2	ZNF554	19	2834551	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	301	2834551	56294432	492	32604											
UHRF1	29128	broad.mit.edu	37	chr19	4929378	4929378	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgactccggctgctgcctgGgccagagtgagtcagacaag	8	6	14	13	2	1	3	1	1	0	2	2	4	2	3	4	2	2	2	4	2	1	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:4929378G>C	ENST00000592666.1	+	0	874							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CTGCTGCCTGGGCCAGAGTGA	0.657													6	26					0	0	0	0	C	4929378	G	C	4929378	1	2	184	0	1	0	0	0	0	0	0	0	17063	1232	43	4		4	UHRF1	19	4929378	RNA	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2094827	4929378	54199605	493	32605											
TRIP10	9322	broad.mit.edu	37	chr19	6741022	6741022	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatgtcccatgtcaggAtcagttcgaggtgctcgagc	8	9	11	13	2	2	0	2	0	0	0	5	3	3	1	3	2	2	2	3	2	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:6741022A>T	ENST00000313244.9	+	2	61	c.24_splice	c.e2-1	p.D9_splice	TRIP10_ENST00000596758.1_Splice_Site_p.D9_splice|TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000600428.1_5'UTR|TRIP10_ENST00000313285.8_Splice_Site_p.D9_splice			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	9	FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCATGTCAGGATCAGTTCGAG	0.617													7	44					0	0	0	0	T	6741022	A	T	6741022	5	4	184	1	0	0	0	0	0	0	1	0	16649	347	12	5	32	5	TRIP10	19	6741022	Splice_Site	SNP	A	TCGA-CR-6481-01A-11D-1870-08	1811644	6741022	52387961	494	32606											
RDH8	50700	broad.mit.edu	37	chr19	10132365	10132365	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccgctgtccacgcctcctCaaccttggccttcaatgtct	5	13	6	17	2	3	0	2	0	1	0	6	0	6	0	6	1	1	1	6	1	2	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:10132365C>G	ENST00000591589.1	+	6	1125	c.936C>G	c.(934-936)ctC>ctG	p.L312L	RDH8_ENST00000171214.1_Silent_p.L292L			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	292					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CACGCCTCCTCAACCTTGGCC	0.612													6	37					0	0	0	0	G	10132365	C	G	10132365	2	3	184	1	0	0	0	0	0	0	0	1	13278	813	29	2		2	RDH8	19	10132365	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	3391343	10132365	48996618	495	32607											
ANGPTL6	83854	broad.mit.edu	37	chr19	10204253	10204253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcagctgatacacgggttCaaggcccagccagtattctc	9	9	11	12	1	3	1	2	1	1	0	4	1	3	1	2	3	3	3	2	3	3	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:10204253C>T	ENST00000253109.4	-	5	1232	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	ANGPTL6_ENST00000589181.1_Missense_Mutation_p.E292K|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.E332K	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	332	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			TACACGGGTTCAAGGCCCAGC	0.642													7	20					0	0	0	0	T	10204253	C	T	10204253	3	4	184	1	0	0	0	0	1	0	0	0	618	835	29	2	426	2	ANGPTL6	19	10204253	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	71888	10204253	48924730	496	32608											
ANGPTL6	83854	broad.mit.edu	37	chr19	10204273	10204273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaggcccagccagtattctCcgtctggccgcccaaagccc	8	6	9	18	2	2	0	0	0	2	0	3	0	2	0	6	2	2	1	6	2	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:10204273C>T	ENST00000253109.4	-	5	1212	c.974G>A	c.(973-975)gGa>gAa	p.G325E	ANGPTL6_ENST00000589181.1_Missense_Mutation_p.G285E|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.G325E	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	325	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CCAGTATTCTCCGTCTGGCCG	0.647													6	20					0	0	0	0	T	10204273	C	T	10204273	3	4	184	1	0	0	0	0	1	0	0	0	618	855	30	2	446	2	ANGPTL6	19	10204273	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	20	10204273	48924710	497	32609											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10220614	10220614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagttgttcctgtgggcGcgagtcgcgggatgaagaag	9	9	16	7	4	1	2	1	1	0	1	3	4	2	3	1	2	0	2	1	2	3	2	rs149200523	byFrequency	TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:10220614G>A	ENST00000428358.1	+	7	788	c.616G>A	c.(616-618)Gcg>Acg	p.A206T	PPAN_ENST00000253107.7_Missense_Mutation_p.A206T|PPAN_ENST00000393793.1_Missense_Mutation_p.A153T|PPAN_ENST00000556468.1_Missense_Mutation_p.A206T|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.A206T	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		206	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TCCTGTGGGCGCGAGTCGCGG	0.627													8	107					0	0	0	0	A	10220614	G	A	10220614	3	1	184	1	0	0	0	0	1	0	0	0	12360	1087	38	1	642	1	PPAN-P2RY11	19	10220614	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	16341	10220614	48908369	498	32610											
ZNF627	199692	broad.mit.edu	37	chr19	11725686	11725686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgaagacccattcaaaattCccaggagaaatataaggtaa	18	9	7	7	0	1	3	1	1	0	2	2	4	2	3	2	2	0	1	2	2	7	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:11725686C>T	ENST00000361113.5	+	3	383	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	ZNF627_ENST00000588174.1_Missense_Mutation_p.P59S	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						ATTCAAAATTCCCAGGAGAAA	0.289													3	21					0	0	0	0	T	11725686	C	T	11725686	3	4	184	1	0	0	0	0	1	0	0	0	18146	855	30	2	185	2	ZNF627	19	11725686	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1505072	11725686	47403297	499	32611											
ZNF563	147837	broad.mit.edu	37	chr19	12429881	12429881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatctgaaagcttccaagatGatgaaatgttttcccgcatt	12	14	7	8	1	1	4	0	3	1	1	3	4	3	4	2	0	1	3	2	0	4	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:12429881G>A	ENST00000293725.5	-	4	1163	c.958C>T	c.(958-960)Cat>Tat	p.H320Y		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTTCCAAGATGATGAAATGTT	0.438													23	134					0	0	0	0	A	12429881	G	A	12429881	3	1	184	1	0	0	0	0	1	0	0	0	18089	1290	45	2	476	2	ZNF563	19	12429881	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	704195	12429881	46699102	500	32612											
C19orf44	84167	broad.mit.edu	37	chr19	16611792	16611792	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctagatgagaaacacttactCctgaaagagaaccctgtgct	14	9	8	10	0	0	4	0	2	0	3	1	6	1	4	2	0	4	1	2	0	5	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:16611792C>G	ENST00000221671.3	+	2	345	c.189C>G	c.(187-189)ctC>ctG	p.L63L	C19orf44_ENST00000594035.1_Silent_p.L63L|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	63										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AACACTTACTCCTGAAAGAGA	0.478													26	192					0	0	0	0	G	16611792	C	G	16611792	2	3	184	1	0	0	0	0	0	0	0	1	1945	842	30	2		2	C19orf44	19	16611792	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	4181911	16611792	42517191	501	32613											
NWD1	284434	broad.mit.edu	37	chr19	16875993	16875993	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccgccctgctgtggagctCcgaggcatgggtgagtccag	5	8	16	12	2	0	1	0	1	0	0	2	3	2	2	4	3	3	3	4	3	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:16875993C>A	ENST00000524140.2	+	10	2818	c.2400C>A	c.(2398-2400)ctC>ctA	p.L800L	NWD1_ENST00000552788.1_Silent_p.L800L|NWD1_ENST00000549814.1_Silent_p.L800L|NWD1_ENST00000523826.1_Silent_p.L594L|NWD1_ENST00000379808.3_Silent_p.L800L|NWD1_ENST00000339803.6_Silent_p.L665L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	800							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGTGGAGCTCCGAGGCATGG	0.587													5	25					0.000602214	0.000618994	1	0	A	16875993	C	A	16875993	2	1	184	1	0	0	0	0	0	0	0	1	10852	842	30	2		2	NWD1	19	16875993	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	264201	16875993	42252990	502	32614											
FCHO1	23149	broad.mit.edu	37	chr19	17875220	17875220	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctactcgaaggcgatggcGaaactctccaagctggccag	11	6	11	13	3	1	0	0	0	1	0	3	3	1	0	3	3	3	1	3	3	4	1	rs148025294		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:17875220G>A	ENST00000594202.1	+	6	435	c.156G>A	c.(154-156)gcG>gcA	p.A52A	FCHO1_ENST00000596951.1_Silent_p.A52A|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000389133.4_Silent_p.A52A|FCHO1_ENST00000252771.7_Silent_p.A52A|FCHO1_ENST00000597512.1_Silent_p.A59A|FCHO1_ENST00000539407.1_Silent_p.A52A|FCHO1_ENST00000596536.1_Silent_p.A52A|FCHO1_ENST00000600676.1_Silent_p.A52A|FCHO1_ENST00000595033.1_Silent_p.A2A	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	52	FCH.									NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						AGGCGATGGCGAAACTCTCCA	0.602													9	38					0	0	0	0	A	17875220	G	A	17875220	2	1	184	1	0	0	0	0	0	0	0	1	5832	1045	37	1		1	FCHO1	19	17875220	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	999227	17875220	41253763	503	32615											
GDF15	9518	broad.mit.edu	37	chr19	18497038	18497038	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggacggtgaatggctctcaGatgctcctggtgttgctggt	6	12	15	8	1	1	2	1	1	1	1	3	3	2	3	1	5	2	4	1	5	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:18497038G>C	ENST00000595973.1	+	2	590	c.39G>C	c.(37-39)caG>caC	p.Q13H	GDF15_ENST00000252809.3_Missense_Mutation_p.Q13H			Q99988	GDF15_HUMAN	growth differentiation factor 15	13					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						ATGGCTCTCAGATGCTCCTGG	0.647													5	39					0	0	0	0	C	18497038	G	C	18497038	3	2	184	1	0	0	0	0	1	0	0	0	6364	933	33	2	41	2	GDF15	19	18497038	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	621818	18497038	40631945	504	32616											
ZNF682	91120	broad.mit.edu	37	chr19	20117110	20117110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttaaaagctttgccacattCttcacatttgtagggtttct	9	17	7	8	0	3	0	1	0	2	0	3	0	3	0	1	1	2	4	1	1	3	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:20117110C>T	ENST00000397165.2	-	4	1361	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.E325K|ZNF682_ENST00000397162.1_Missense_Mutation_p.E369K|ZNF682_ENST00000358523.5_Missense_Mutation_p.E369K|ZNF682_ENST00000597972.1_Missense_Mutation_p.E407K	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTGCCACATTCTTCACATTTG	0.378													16	77					0	0	0	0	T	20117110	C	T	20117110	3	4	184	1	0	0	0	0	1	0	0	0	18184	922	32	2	299	2	ZNF682	19	20117110	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1620072	20117110	39011873	505	32617											
ZNF536	9745	broad.mit.edu	37	chr19	31038871	31038871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaccctacaagtgtcCgcactgtgactatgccggca	11	8	10	12	2	0	2	0	2	0	1	1	3	1	2	3	1	3	2	3	1	4	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:31038871C>T	ENST00000355537.3	+	4	2492	c.2345C>T	c.(2344-2346)cCg>cTg	p.P782L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	782					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TACAAGTGTCCGCACTGTGAC	0.502													13	70					0	0	0	0	T	31038871	C	T	31038871	3	4	184	1	0	0	0	0	1	0	0	0	18069	652	23	1	2355	1	ZNF536	19	31038871	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	10921761	31038871	28090112	506	32618											
HPN	3249	broad.mit.edu	37	chr19	35551551	35551551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaaccgggtcctgtcccGatggcgagtgtttgccggtg	4	9	17	11	5	0	0	0	0	0	0	2	3	2	1	4	4	2	1	4	4	1	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:35551551G>T	ENST00000262626.2	+	9	1466	c.641G>T	c.(640-642)cGa>cTa	p.R214L	HPN_ENST00000392226.1_Missense_Mutation_p.R214L|HPN_ENST00000597419.1_Missense_Mutation_p.R56L|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	214	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GTCCTGTCCCGATGGCGAGTG	0.682													10	39					3.07112e-06	3.19627e-06	1	0	T	35551551	G	T	35551551	3	4	184	1	0	0	0	0	1	0	0	0	7386	1058	37	3	671	3	HPN	19	35551551	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4512680	35551551	23577432	507	32619											
CD22	933	broad.mit.edu	37	chr19	35828818	35828818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaagcagaatacattcacGctaaacctgcgcgaagtgac	16	6	9	10	3	1	3	1	1	0	2	1	4	1	3	1	0	4	2	1	0	7	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:35828818G>A	ENST00000085219.5	+	5	945	c.879G>A	c.(877-879)acG>acA	p.T293T	CD22_ENST00000270311.6_Silent_p.T173T|CD22_ENST00000536635.2_Silent_p.T293T|CD22_ENST00000594250.1_Intron|CD22_ENST00000419549.2_Silent_p.T121T|CD22_ENST00000544992.2_Silent_p.T293T|CD22_ENST00000341773.6_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	293	Ig-like C2-type 2.				cell adhesion		protein binding|sugar binding	p.T293T(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	ATACATTCACGCTAAACCTGC	0.567													4	43					0	0	0	0	A	35828818	G	A	35828818	2	1	184	1	0	0	0	0	0	0	0	1	3014	1074	38	1		1	CD22	19	35828818	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	277267	35828818	23300165	508	32620											
GAPDHS	26330	broad.mit.edu	37	chr19	36033280	36033280	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctacgtggtggagtccaCaggcgtgtacctctccatac	7	9	10	15	2	1	0	0	0	1	0	3	1	2	1	5	3	3	1	5	3	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:36033280C>G	ENST00000222286.4	+	5	625	c.509C>G	c.(508-510)aCa>aGa	p.T170R	AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	170					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GTGGAGTCCACAGGCGTGTAC	0.637													8	38					0	0	0	0	G	36033280	C	G	36033280	3	3	184	1	0	0	0	0	1	0	0	0	6286	478	17	4	527	4	GAPDHS	19	36033280	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	204462	36033280	23095703	509	32621											
ZNF570	148268	broad.mit.edu	37	chr19	37975067	37975067	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactgctttgtacacaaaaGataatccccaaagaggagaa	17	7	7	10	0	0	3	0	0	0	3	1	4	1	3	3	1	2	2	3	1	6	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:37975067G>C	ENST00000330173.1	+	5	1072	c.543G>C	c.(541-543)aaG>aaC	p.K181N	ZNF570_ENST00000586475.1_Missense_Mutation_p.K237N|ZNF570_ENST00000388801.3_5'UTR	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTACACAAAAGATAATCCCCA	0.358													42	183					0	0	0	0	C	37975067	G	C	37975067	3	2	184	1	0	0	0	0	1	0	0	0	18097	933	33	2	557	2	ZNF570	19	37975067	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1941787	37975067	21153916	510	32622											
FBXO17	115290	broad.mit.edu	37	chr19	39437135	39437135	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagccacacagatctcaatCtgggcgctgtccagcagctc	9	8	9	15	1	3	1	2	0	2	1	6	1	4	1	2	1	3	3	2	1	1	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:39437135C>G	ENST00000292852.4	-	4	875	c.534G>C	c.(532-534)caG>caC	p.Q178H	FBXO17_ENST00000595329.1_Missense_Mutation_p.Q178H|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.D83H|SARS2_ENST00000448145.2_Missense_Mutation_p.Q13H	NM_024907.5	NP_079183.4			F-box protein 17											breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGATCTCAATCTGGGCGCTGT	0.637													12	49					0	0	0	0	G	39437135	C	G	39437135	3	3	184	1	0	0	0	0	1	0	0	0	5775	912	32	2	314	2	FBXO17	19	39437135	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1462068	39437135	19691848	511	32623											
CCDC97	90324	broad.mit.edu	37	chr19	41828509	41828509	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctgcagcacagtagaCgacaaccccgacttcgacaa	12	6	7	16	3	0	1	0	0	0	1	3	4	2	1	4	0	3	3	4	0	3	2	rs143105404		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:41828509C>T	ENST00000269967.3	+	5	1043	c.921C>T	c.(919-921)gaC>gaT	p.D307D		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	307										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCACAGTAGACGACAACCCCG	0.612													9	88					0	0	0	0	T	41828509	C	T	41828509	2	4	184	1	0	0	0	0	0	0	0	1	2902	535	19	1		1	CCDC97	19	41828509	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2391374	41828509	17300474	512	32624											
LIPE	3991	broad.mit.edu	37	chr19	42907160	42907160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctgggccagtgctgcttCagacacactgcggcgcatcg	6	7	15	13	3	1	1	1	0	0	1	2	1	1	1	1	3	3	4	1	3	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:42907160C>T	ENST00000244289.4	-	9	2842	c.2566G>A	c.(2566-2568)Gaa>Aaa	p.E856K	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	856					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)				AGTGCTGCTTCAGACACACTG	0.617													6	52					0	0	0	0	T	42907160	C	T	42907160	3	4	184	1	0	0	0	0	1	0	0	0	8876	835	29	2	672	2	LIPE	19	42907160	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1078651	42907160	16221823	513	32625											
PSG3	5671	broad.mit.edu	37	chr19	43243011	43243011	+	Frame_Shift_Del	DEL	C	C	-																															tgcattggaatatactgtttCtcgtccactgtatgcaggcc																										TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:43243011delC	ENST00000327495.5	-	2	479	c.295delG	c.(295-297)aafs	p.E99fs	PSG3_ENST00000595140.1_Frame_Shift_Del_p.E99fs|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	99	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TATACTGTTTCTCGTCCACTG	0.453													69	541	---	---	---	---					-	43243011	C	-	43243011	7	5	184	1	0	1	0	1	0	0	0	0	12735	922	32	0	1011	0	PSG3	19	43243011	Frame_Shift_Del	DEL	C	TCGA-CR-6481-01A-11D-1870-08	335851	43243011	15885972	514	32626											
FBXO46	23403	broad.mit.edu	37	chr19	46215859	46215859	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatcttgtccttggctcGggccccaggacctgggctgc	3	11	14	13	1	1	1	0	1	1	0	3	2	2	2	4	4	1	2	4	4	0	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:46215859G>A	ENST00000317683.3	-	2	1028	c.895C>T	c.(895-897)Cga>Tga	p.R299*		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	299							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TCCTTGGCTCGGGCCCCAGGA	0.682													4	16					0	0	0	0	A	46215859	G	A	46215859	4	1	184	1	0	0	0	0	0	1	0	0	5800	1124	39	1	920	1	FBXO46	19	46215859	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2972848	46215859	12913124	515	32627											
PNMAL1	55228	broad.mit.edu	37	chr19	46973455	46973455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgagatcgccatgctttCagcatcacccacctcaggat	9	10	7	15	1	4	1	3	1	1	1	5	3	4	2	3	1	2	2	3	1	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:46973455C>T	ENST00000313683.10	-	2	1143	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	PNMAL1_ENST00000438932.2_Missense_Mutation_p.E280K|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	280										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCCATGCTTTCAGCATCACCC	0.517													27	151					0	0	0	0	T	46973455	C	T	46973455	3	4	184	1	0	0	0	0	1	0	0	0	12229	835	29	2	511	2	PNMAL1	19	46973455	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	757596	46973455	12155528	516	32628											
LMTK3	114783	broad.mit.edu	37	chr19	49004553	49004553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctcaccagatgttgctctCgcggctctggtccaccacca	6	10	8	17	2	3	1	1	0	2	1	6	1	5	1	5	2	1	3	5	2	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:49004553C>T	ENST00000600059.1	-	9	1215	c.988G>A	c.(988-990)Gag>Aag	p.E330K	LMTK3_ENST00000270238.3_Missense_Mutation_p.E359K					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		ATGTTGCTCTCGCGGCTCTGG	0.662													13	66					0	0	0	0	T	49004553	C	T	49004553	3	4	184	1	0	0	0	0	1	0	0	0	8915	893	31	1	3422	1	LMTK3	19	49004553	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2031098	49004553	10124430	517	32629											
PPFIA3	8541	broad.mit.edu	37	chr19	49652886	49652886	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgaggcgtaactcccgactCagctgagatgttgcccccca	8	7	10	16	3	1	1	1	1	0	1	2	4	2	1	5	1	3	3	5	1	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:49652886C>G	ENST00000334186.4	+	28	3786	c.3437C>G	c.(3436-3438)tCa>tGa	p.S1146*	PPFIA3_ENST00000602351.1_Nonsense_Mutation_p.S1137*	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1146						cell surface|cytoplasm	protein binding	p.S1146L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ACTCCCGACTCAGCTGAGATG	0.647													3	40					0	0	0	0	G	49652886	C	G	49652886	4	3	184	1	0	0	0	0	0	1	0	0	12382	838	29	2	3543	2	PPFIA3	19	49652886	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	648333	49652886	9476097	518	32630											
MYH14	79784	broad.mit.edu	37	chr19	50780093	50780093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccacgaggcggcagtgcagGagctgaggcagcgccacggc	8	3	17	13	4	0	1	0	1	0	0	1	3	1	2	2	5	3	4	2	5	0	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:50780093G>A	ENST00000440075.2	+	29	3807	c.3760G>A	c.(3760-3762)Gag>Aag	p.E1254K	MYH14_ENST00000425460.1_Missense_Mutation_p.E1221K|MYH14_ENST00000376970.2_Missense_Mutation_p.E1246K|MYH14_ENST00000262269.8_Missense_Mutation_p.E1254K|MYH14_ENST00000601313.1_Missense_Mutation_p.E1254K|MYH14_ENST00000598205.1_Missense_Mutation_p.E1221K|MYH14_ENST00000596571.1_Missense_Mutation_p.E1213K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1213					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGCAGTGCAGGAGCTGAGGCA	0.677													14	51					0	0	0	0	A	50780093	G	A	50780093	3	1	184	1	0	0	0	0	1	0	0	0	10103	1175	41	2	3870	2	MYH14	19	50780093	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1127207	50780093	8348890	519	32631											
ZNF808	388558	broad.mit.edu	37	chr19	53058569	53058569	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggtttgtgacaaggctttCgtgcgtaattcatacctggc	8	13	11	9	3	1	1	1	1	0	0	2	1	1	1	1	3	2	3	1	3	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:53058569C>T	ENST00000359798.4	+	5	2580	c.2400C>T	c.(2398-2400)ttC>ttT	p.F800F		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	800					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACAAGGCTTTCGTGCGTAATT	0.408													24	190					0	0	0	0	T	53058569	C	T	53058569	2	4	184	1	0	0	0	0	0	0	0	1	18266	883	31	1		1	ZNF808	19	53058569	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2278476	53058569	6070414	520	32632											
SUV420H2	84787	broad.mit.edu	37	chr19	55857665	55857665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgacatgcttctacggcGagggcttcttcggcgagaag	8	9	15	9	4	2	2	0	1	2	1	3	4	2	2	0	4	2	2	0	4	2	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:55857665G>A	ENST00000255613.3	+	7	903	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	219	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CTTCTACGGCGAGGGCTTCTT	0.622													8	65					0	0	0	0	A	55857665	G	A	55857665	3	1	184	1	0	0	0	0	1	0	0	0	15505	1059	37	1	677	1	SUV420H2	19	55857665	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	2799096	55857665	3271318	521	32633											
USP29	57663	broad.mit.edu	37	chr19	57641988	57641988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaggagcttccagtggctGactcactgatggaccaggga	12	7	13	9	0	1	2	1	2	0	0	2	5	2	5	2	4	1	2	2	4	2	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:57641988G>A	ENST00000254181.4	+	4	2399	c.1945G>A	c.(1945-1947)Gac>Aac	p.D649N	USP29_ENST00000598197.1_Missense_Mutation_p.D649N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	649					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCAGTGGCTGACTCACTGAT	0.498													6	51					0	0	0	0	A	57641988	G	A	57641988	3	1	184	1	0	0	0	0	1	0	0	0	17155	1290	45	2	1947	2	USP29	19	57641988	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1784323	57641988	1486995	522	32634											
LBP	3929	broad.mit.edu	37	chr20	36992685	36992685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagcttagtggaagcccctCgggcaacagcccagatgctg	10	7	12	12	1	0	1	0	0	0	1	1	2	0	2	3	2	5	3	3	2	4	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr20:36992685C>T	ENST00000217407.2	+	7	870	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	237					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGAAGCCCCTCGGGCAACAGC	0.547													9	37					0	0	0	0	T	36992685	C	T	36992685	3	4	184	1	0	0	0	0	1	0	0	0	8704	875	31	1	735	1	LBP	20	36992685	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08		36992685	26032835	523	32635											
ARFGEF2	10564	broad.mit.edu	37	chr20	47649614	47649614	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtgaaattatgcagtttGacctgatccctgagctccga	9	13	10	9	1	0	4	0	4	0	0	2	5	2	4	3	0	2	3	3	0	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr20:47649614G>C	ENST00000371917.4	+	39	5236	c.5236G>C	c.(5236-5238)Gac>Cac	p.D1746H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1746					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TATGCAGTTTGACCTGATCCC	0.418													9	57					0	0	0	0	C	47649614	G	C	47649614	3	2	184	1	0	0	0	0	1	0	0	0	855	1290	45	2	5390	2	ARFGEF2	20	47649614	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	10656929	47649614	15375906	524	32636											
ZNF217	7764	broad.mit.edu	37	chr20	52199332	52199332	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgtacattaagagggattGagttggcatgtttcctgtca	10	14	11	6	0	1	2	1	1	0	1	2	3	2	3	1	2	1	4	1	2	2	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr20:52199332G>A	ENST00000371471.2	-	2	459	c.34C>T	c.(34-36)Caa>Taa	p.Q12*	ZNF217_ENST00000302342.3_Nonsense_Mutation_p.Q12*			O75362	ZN217_HUMAN	zinc finger protein 217	12					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AAGAGGGATTGAGTTGGCATG	0.468													15	97					0	0	0	0	A	52199332	G	A	52199332	4	1	184	1	0	0	0	0	0	1	0	0	17867	1299	45	2	3128	2	ZNF217	20	52199332	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	4549718	52199332	10826188	525	32637											
DOK5	55816	broad.mit.edu	37	chr20	53208154	53208154	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccttttgtttttctcccaGagagattcaatgtgtatttg	9	18	7	7	0	2	2	1	0	1	2	3	3	2	2	2	0	1	2	2	0	3	7			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr20:53208154G>C	ENST00000262593.5	+	5	759		c.e5-1		DOK5_ENST00000395939.1_Splice_Site	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5								insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			TTTTCTCCCAGAGAGATTCAA	0.368													5	72					0	0	0	0	C	53208154	G	C	53208154	5	2	184	1	0	0	0	0	0	0	1	0	4736	956	33	2	427	2	DOK5	20	53208154	Splice_Site	SNP	G	TCGA-CR-6481-01A-11D-1870-08	1008822	53208154	9817366	526	32638											
PCK1	5105	broad.mit.edu	37	chr20	56139406	56139406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagccgctagcttcaggtgtCaccatcacgtcctggaagaa	10	8	11	12	2	3	1	3	0	0	1	4	3	4	2	3	2	2	2	3	2	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr20:56139406C>T	ENST00000319441.4	+	7	1307	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	PCK1_ENST00000535860.1_Silent_p.V249V|PCK1_ENST00000543666.1_Silent_p.V64V	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	381					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTTCAGGTGTCACCATCACGT	0.567													7	59					0	0	0	0	T	56139406	C	T	56139406	2	4	184	1	0	0	0	0	0	0	0	1	11652	813	29	2		2	PCK1	20	56139406	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2931252	56139406	6886114	527	32639											
DIDO1	11083	broad.mit.edu	37	chr20	61525058	61525058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgacaggtatcttgggtCaggagatgaggatggcttag	11	10	15	5	0	2	3	1	2	1	1	2	5	2	4	0	5	1	2	0	5	3	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr20:61525058C>T	ENST00000266070.4	-	12	3386	c.3061G>A	c.(3061-3063)Gac>Aac	p.D1021N	DIDO1_ENST00000395340.1_Missense_Mutation_p.D1021N|DIDO1_ENST00000395335.2_Missense_Mutation_p.D1021N|DIDO1_ENST00000395343.1_Missense_Mutation_p.D1021N	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1021					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TATCTTGGGTCAGGAGATGAG	0.483													18	87					0	0	0	0	T	61525058	C	T	61525058	3	4	184	1	0	0	0	0	1	0	0	0	4559	826	29	2	3710	2	DIDO1	20	61525058	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	5385652	61525058	1500462	528	32640											
DIDO1	11083	broad.mit.edu	37	chr20	61525160	61525160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccaccatgtgggtgctgtCtgggcgggatgctgcggagg	4	10	18	9	2	1	0	0	0	1	0	2	2	2	2	2	5	3	2	2	5	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr20:61525160C>T	ENST00000266070.4	-	12	3284	c.2959G>A	c.(2959-2961)Gac>Aac	p.D987N	DIDO1_ENST00000395340.1_Missense_Mutation_p.D987N|DIDO1_ENST00000395335.2_Missense_Mutation_p.D987N|DIDO1_ENST00000395343.1_Missense_Mutation_p.D987N	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	987					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGTGCTGTCTGGGCGGGAT	0.622													16	86					0	0	0	0	T	61525160	C	T	61525160	3	4	184	1	0	0	0	0	1	0	0	0	4559	913	32	2	3812	2	DIDO1	20	61525160	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	102	61525160	1500360	529	32641											
CRYZL1	9946	broad.mit.edu	37	chr21	34994360	34994360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataaatcctttttcatcttCatttctgccagaagctaaat	13	16	3	9	0	4	1	2	0	2	1	5	1	5	1	2	0	2	1	2	0	6	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr21:34994360C>T	ENST00000361534.2	-	5	370	c.231G>A	c.(229-231)atG>atA	p.M77I	CRYZL1_ENST00000413017.2_Missense_Mutation_p.M53I|CRYZL1_ENST00000445393.1_Missense_Mutation_p.M53I|CRYZL1_ENST00000290244.5_Missense_Mutation_p.M53I|CRYZL1_ENST00000381540.3_Missense_Mutation_p.M53I|CRYZL1_ENST00000381554.3_Missense_Mutation_p.M53I|AP000304.12_ENST00000429238.1_Intron			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	53					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						TTTTCATCTTCATTTCTGCCA	0.338													28	119					0	0	0	0	T	34994360	C	T	34994360	3	4	184	1	0	0	0	0	1	0	0	0	3953	826	29	2	930	2	CRYZL1	21	34994360	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08		34994360	13135535	530	32642											
ITSN1	6453	broad.mit.edu	37	chr21	35166702	35166702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaaaagtccatggaggctGaacgactgaaacagaaagaa	19	4	11	7	1	0	4	0	2	0	2	1	6	1	5	1	2	3	2	1	2	6	0			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr21:35166702G>A	ENST00000381318.3	+	17	2170	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K	ITSN1_ENST00000437442.2_Missense_Mutation_p.E628K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E628K|ITSN1_ENST00000379960.5_Missense_Mutation_p.E628K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.E628K|ITSN1_ENST00000399326.3_Missense_Mutation_p.E628K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E628K|ITSN1_ENST00000399367.3_Missense_Mutation_p.E628K|ITSN1_ENST00000399353.1_Missense_Mutation_p.E591K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E628K|ITSN1_ENST00000399338.4_Missense_Mutation_p.E628K|ITSN1_ENST00000381291.4_Missense_Mutation_p.E628K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	628	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CATGGAGGCTGAACGACTGAA	0.383													12	67					0	0	0	0	A	35166702	G	A	35166702	3	1	184	1	0	0	0	0	1	0	0	0	7979	1291	45	2	1944	2	ITSN1	21	35166702	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	172342	35166702	12963193	531	32643											
RRP1	8568	broad.mit.edu	37	chr21	45219458	45219458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttttgttccaggctccatCtgcagggctgaacctgaggc	6	11	11	13	0	1	2	0	2	1	0	3	2	3	2	4	3	2	4	4	3	1	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr21:45219458C>T	ENST00000497547.1	+	9	936	c.819C>T	c.(817-819)atC>atT	p.I273I	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	273					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		CAGGCTCCATCTGCAGGGCTG	0.647													5	45					0	0	0	0	T	45219458	C	T	45219458	2	4	184	1	0	0	0	0	0	0	0	1	13770	903	32	2		2	RRP1	21	45219458	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	10052756	45219458	2910437	532	32644											
CECR5	27440	broad.mit.edu	37	chr22	17630458	17630458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccagcagggctgacagctCctgggctttgctgtgttgta	5	11	13	12	0	0	1	0	1	0	0	1	1	1	1	3	2	3	7	3	2	1	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr22:17630458C>T	ENST00000336737.4	-	2	329	c.304G>A	c.(304-306)Gag>Aag	p.E102K	CECR5_ENST00000155674.5_Missense_Mutation_p.E72K|CECR5_ENST00000399852.3_Intron|CECR5_ENST00000480451.1_5'UTR	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	102							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				GCTGACAGCTCCTGGGCTTTG	0.597													14	95					0	0	0	0	T	17630458	C	T	17630458	3	4	184	1	0	0	0	0	1	0	0	0	3236	864	30	2	995	2	CECR5	22	17630458	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08		17630458	33674108	533	32645											
TXNRD2	10587	broad.mit.edu	37	chr22	19868160	19868160	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacattgtcgtagtccatCagatctgaggacccgccgaa	10	9	9	13	3	3	2	2	1	1	1	5	4	4	3	3	1	0	1	3	1	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr22:19868160C>A	ENST00000400519.1	-	13	1163	c.1164G>T	c.(1162-1164)ctG>ctT	p.L388L	TXNRD2_ENST00000400525.1_Silent_p.L366L|TXNRD2_ENST00000400518.1_Silent_p.L359L|TXNRD2_ENST00000400521.1_Silent_p.L389L|TXNRD2_ENST00000535882.1_Silent_p.L388L|TXNRD2_ENST00000542719.1_Silent_p.L359L			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	389					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CGTAGTCCATCAGATCTGAGG	0.632													4	48					0.00909568	0.00922066	1	0	A	19868160	C	A	19868160	2	1	184	1	0	0	0	0	0	0	0	1	16904	813	29	2		2	TXNRD2	22	19868160	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	2237702	19868160	31436406	534	32646											
GGA1	26088	broad.mit.edu	37	chr22	38028118	38028118	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtggtggtttccatgctGagcaccgccccccagcccat	5	9	12	15	1	0	1	0	1	0	0	1	1	1	1	6	3	3	3	6	3	0	1			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr22:38028118G>A	ENST00000406772.1	+	16	2077	c.1425G>A	c.(1423-1425)ctG>ctA	p.L475L	GGA1_ENST00000337437.4_Silent_p.L515L|GGA1_ENST00000381756.5_Silent_p.L565L|GGA1_ENST00000325180.8_Silent_p.L461L|GGA1_ENST00000343632.4_Silent_p.L548L	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	548	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					TTTCCATGCTGAGCACCGCCC	0.627													3	21					0	0	0	0	A	38028118	G	A	38028118	2	1	184	1	0	0	0	0	0	0	0	1	6403	1277	45	2		2	GGA1	22	38028118	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	18159958	38028118	13276448	535	32647											
ST13	6767	broad.mit.edu	37	chr22	41240869	41240869	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttcatctcccatttcttGaggagcatcagtgtctggtt	7	17	8	9	0	5	1	2	1	3	0	6	2	5	2	1	2	1	2	1	2	0	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr22:41240869G>A	ENST00000216218.3	-	4	770	c.289C>T	c.(289-291)Caa>Taa	p.Q97*		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	97							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CCCATTTCTTGAGGAGCATCA	0.408													5	18					0	0	0	0	A	41240869	G	A	41240869	4	1	184	1	0	0	0	0	0	1	0	0	15300	1299	45	2	856	2	ST13	22	41240869	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3212751	41240869	10063697	536	32648											
WBP2NL	164684	broad.mit.edu	37	chr22	42423140	42423140	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcccaggctcctgaaaaCgaggcttctcttccctctgc	7	9	9	16	1	2	1	0	1	2	0	5	2	4	1	3	2	3	3	3	2	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr22:42423140C>T	ENST00000328823.9	+	6	916	c.885C>T	c.(883-885)aaC>aaT	p.N295N	WBP2NL_ENST00000543212.1_Silent_p.N221N	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	295					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CTCCTGAAAACGAGGCTTCTC	0.527													19	83					0	0	0	0	T	42423140	C	T	42423140	2	4	184	1	0	0	0	0	0	0	0	1	17356	535	19	1		1	WBP2NL	22	42423140	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	1182271	42423140	8881426	537	32649											
NUP50	10762	broad.mit.edu	37	chr22	45571788	45571788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttcagtctgacactggagGagcctttaaaggttttaaag	12	12	10	7	0	2	1	1	1	1	0	2	3	2	3	1	3	1	1	1	3	4	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr22:45571788G>T	ENST00000347635.3	+	4	633	c.167G>T	c.(166-168)gGa>gTa	p.G56V	NUP50_ENST00000396096.2_Missense_Mutation_p.G28V|NUP50_ENST00000407019.2_Missense_Mutation_p.G28V|NUP50_ENST00000425733.2_Intron|NUP50_ENST00000486184.1_3'UTR	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	56	Gly-rich.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GACACTGGAGGAGCCTTTAAA	0.463													15	95					0.000422831	0.000435963	1	0	T	45571788	G	T	45571788	3	4	184	1	0	0	0	0	1	0	0	0	10837	1174	41	2	177	2	NUP50	22	45571788	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3148648	45571788	5732778	538	32650											
FAM118A	55007	broad.mit.edu	37	chr22	45728405	45728405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccctctttctttactccGtgccgaataaggtggatttg	7	14	10	10	2	2	0	0	0	2	0	3	2	3	1	3	3	2	0	3	3	3	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr22:45728405G>A	ENST00000216214.3	+	7	1585	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	FAM118A_ENST00000405548.3_Missense_Mutation_p.V69M|FAM118A_ENST00000441876.2_Missense_Mutation_p.V251M	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	251						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCTTTACTCCGTGCCGAATAA	0.478													22	138					0	0	0	0	A	45728405	G	A	45728405	3	1	184	1	0	0	0	0	1	0	0	0	5452	1145	40	1	769	1	FAM118A	22	45728405	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	156617	45728405	5576161	539	32651											
ARSE	415	broad.mit.edu	37	chrX	2878422	2878422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atataattgtatcttaccaaGaatggtgcagatgtaacatg	15	13	8	5	0	1	2	0	0	1	2	1	2	1	2	1	1	3	3	1	1	7	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:2878422G>A	ENST00000540563.1	-	2	136	c.47C>T	c.(46-48)tCt>tTt	p.S16F	ARSE_ENST00000381134.3_Missense_Mutation_p.S7F|ARSE_ENST00000545496.1_5'UTR|ARSE_ENST00000496095.1_5'UTR			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	0					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCTTACCAAGAATGGTGCAG	0.333													11	21					0	0	0	0	A	2878422	G	A	2878422	3	1	184	1	0	0	0	0	1	0	0	0	994	942	33	2	1789	2	ARSE	23	2878422	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08		2878422	152392138	540	32652											
PHKA2	5256	broad.mit.edu	37	chrX	18956826	18956826	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattcaatgttttcgaaGagcttgagttcagcagggtc	10	13	10	8	1	3	2	3	1	0	1	5	3	3	2	0	1	2	4	0	1	2	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:18956826G>T	ENST00000379942.4	-	10	1625	c.960C>A	c.(958-960)ctC>ctA	p.L320L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	320					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGTTTTCGAAGAGCTTGAGTT	0.383													15	35					1.02788e-11	1.09553e-11	1	0	T	18956826	G	T	18956826	2	4	184	1	0	0	0	0	0	0	0	1	11916	929	33	2		2	PHKA2	23	18956826	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	16078404	18956826	136313734	541	32653											
DDX3X	1654	broad.mit.edu	37	chrX	41206168	41206168	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atattactaaggatttgttgGatcttcttgttgaagctaaa	12	17	8	4	0	2	1	0	1	2	0	2	3	2	3	0	2	2	3	0	2	6	9			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:41206168G>C	ENST00000399959.2	+	15	2527	c.1672G>C	c.(1672-1674)Gat>Cat	p.D558H	DDX3X_ENST00000457138.2_Missense_Mutation_p.D542H|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	558	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GGATTTGTTGGATCTTCTTGT	0.393										HNSCC(61;0.18)			15	24					0	0	0	0	C	41206168	G	C	41206168	3	2	184	1	0	0	0	0	1	0	0	0	4390	1174	41	2	1730	2	DDX3X	23	41206168	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	22249342	41206168	114064392	542	32654											
DDX3X	1654	broad.mit.edu	37	chrX	41206210	41206210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaagtgccgtcttggttaGaaaacatggcttatgaacac	14	10	10	7	1	1	3	0	1	1	2	1	3	1	3	1	2	3	2	1	2	7	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:41206210G>C	ENST00000399959.2	+	15	2569	c.1714G>C	c.(1714-1716)Gaa>Caa	p.E572Q	DDX3X_ENST00000457138.2_Missense_Mutation_p.E556Q|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	572	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GTCTTGGTTAGAAAACATGGC	0.403										HNSCC(61;0.18)			16	22					0	0	0	0	C	41206210	G	C	41206210	3	2	184	1	0	0	0	0	1	0	0	0	4390	943	33	2	1772	2	DDX3X	23	41206210	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	42	41206210	114064350	543	32655											
NONO	4841	broad.mit.edu	37	chrX	70514197	70514197	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacagttcgaaaccttcctCagtatgtgtccaacgaactg	11	12	7	11	2	1	0	1	0	0	0	4	2	3	0	3	0	4	2	3	0	5	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:70514197C>T	ENST00000535149.1	+	3	845	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	NONO_ENST00000276079.8_Nonsense_Mutation_p.Q157*|NONO_ENST00000373841.1_Nonsense_Mutation_p.Q157*|NONO_ENST00000373856.3_Nonsense_Mutation_p.Q157*|NONO_ENST00000490044.1_3'UTR	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	157	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AAACCTTCCTCAGTATGTGTC	0.517			T	TFE3	papillary renal cancer								16	41					0	0	0	0	T	70514197	C	T	70514197	4	4	184	1	0	0	0	0	0	1	0	0	10604	827	29	2	479	2	NONO	23	70514197	Nonsense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	29307987	70514197	84756363	544	32656											
BRWD3	254065	broad.mit.edu	37	chrX	79980560	79980560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaacgaatacttcatcatCatgtccctataataaaaatc	17	12	3	9	1	3	1	3	0	0	1	5	2	4	1	1	0	2	0	1	0	9	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:79980560C>T	ENST00000373275.4	-	15	1609	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	465										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACTTCATCATCATGTCCCTAT	0.373													11	21					0	0	0	0	T	79980560	C	T	79980560	3	4	184	1	0	0	0	0	1	0	0	0	1534	826	29	2	4123	2	BRWD3	23	79980560	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	9466363	79980560	75290000	545	32657											
BRWD3	254065	broad.mit.edu	37	chrX	79989634	79989634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccgtatgtgactctaattCagcaattttctcaggaacct	11	14	6	10	1	3	1	2	1	2	0	4	2	3	2	2	1	3	2	2	1	5	6			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:79989634C>T	ENST00000373275.4	-	11	1285	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	357										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GACTCTAATTCAGCAATTTTC	0.338													20	46					0	0	0	0	T	79989634	C	T	79989634	3	4	184	1	0	0	0	0	1	0	0	0	1534	835	29	2	4463	2	BRWD3	23	79989634	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	9074	79989634	75280926	546	32658											
KLHL4	56062	broad.mit.edu	37	chrX	86890739	86890739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggcatgatgcccctgcttCcaaccattgctccaggcttt	6	11	10	14	0	0	1	0	1	0	0	2	1	2	1	5	3	4	4	5	3	1	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:86890739C>T	ENST00000373119.4	+	9	2034	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	KLHL4_ENST00000373114.4_Missense_Mutation_p.S630F	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	630						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCCCCTGCTTCCAACCATTGC	0.403													12	27					0	0	0	0	T	86890739	C	T	86890739	3	4	184	1	0	0	0	0	1	0	0	0	8443	855	30	2	1923	2	KLHL4	23	86890739	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	6901105	86890739	68379821	547	32659											
BTK	695	broad.mit.edu	37	chrX	100604914	100604914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctagaatattgctcagaaGaattttgaaagtgggacgct	14	12	10	5	1	2	4	1	1	1	3	2	5	2	5	0	1	1	2	0	1	6	5			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:100604914G>A	ENST00000308731.7	-	19	2102	c.1939C>T	c.(1939-1941)Ctt>Ttt	p.L647F	BTK_ENST00000372880.1_Missense_Mutation_p.L471F	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	647	Protein kinase.		L -> P (in XLA).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGCTCAGAAGAATTTTGAAA	0.393									Agammaglobulinemia, X-linked				32	80					0	0	0	0	A	100604914	G	A	100604914	3	1	184	1	0	0	0	0	1	0	0	0	1566	942	33	2	44	2	BTK	23	100604914	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	13714175	100604914	54665646	548	32660											
RNF113A	7737	broad.mit.edu	37	chrX	119005174	119005174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggatcttctggctgcgctCaaagatggcttgtgcatcgc	6	12	12	11	2	3	1	1	0	2	1	4	2	3	2	0	3	2	4	0	3	1	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:119005174C>T	ENST00000371442.2	-	1	617	c.403G>A	c.(403-405)Gag>Aag	p.E135K		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	135							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TGGCTGCGCTCAAAGATGGCT	0.527													18	253					0	0	0	0	T	119005174	C	T	119005174	3	4	184	1	0	0	0	0	1	0	0	0	13512	835	29	2	632	2	RNF113A	23	119005174	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	18400260	119005174	36265386	549	32661			2	47		4	4	235	C		1.185106e-08
RNF113A	7737	broad.mit.edu	37	chrX	119005250	119005250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccatatcctctggtccCacgggtttcgccgaacgggt	5	10	11	15	4	1	0	0	0	1	0	5	1	4	0	4	3	1	2	4	3	2	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:119005250C>T	ENST00000371442.2	-	1	541	c.327G>A	c.(325-327)gtG>gtA	p.V109V		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	109							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CCTCTGGTCCCACGGGTTTCG	0.562													14	181					0	0	0	0	T	119005250	C	T	119005250	2	4	184	1	0	0	0	0	0	0	0	1	13512	581	21	4		4	RNF113A	23	119005250	Silent	SNP	C	TCGA-CR-6481-01A-11D-1870-08	76	119005250	36265310	550	32662			2	47		4	4	235	C		1.185106e-08
RNF113A	7737	broad.mit.edu	37	chrX	119005303	119005303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgccgagactctcgggctCattttcctcttcctcttcgc	4	13	7	17	4	4	1	1	0	3	1	8	2	6	1	3	1	0	1	3	1	0	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:119005303C>T	ENST00000371442.2	-	1	488	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	92	Poly-Glu.						nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CTCTCGGGCTCATTTTCCTCT	0.547													11	145					0	0	0	0	T	119005303	C	T	119005303	3	4	184	1	0	0	0	0	1	0	0	0	13512	835	29	2	761	2	RNF113A	23	119005303	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	53	119005303	36265257	551	32663			2	47		4	4	235	C		1.185106e-08
RNF113A	7737	broad.mit.edu	37	chrX	119005408	119005408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgggtcacccgcttcttttCcggtcgaaccacagtgcagc	6	10	11	14	3	2	0	1	0	1	0	4	1	3	0	3	2	3	2	3	2	1	3			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:119005408C>T	ENST00000371442.2	-	1	383	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	57							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CGCTTCTTTTCCGGTCGAACC	0.602													6	133					0	0	0	0	T	119005408	C	T	119005408	3	4	184	1	0	0	0	0	1	0	0	0	13512	864	30	2	866	2	RNF113A	23	119005408	Missense_Mutation	SNP	C	TCGA-CR-6481-01A-11D-1870-08	105	119005408	36265152	552	32664			2	47		4	4	235	C		1.185106e-08
GRIA3	2892	broad.mit.edu	37	chrX	122537305	122537305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggtttgtgcctttctcaGatcagcaaatcagcaatgac	13	11	8	9	0	3	2	3	1	1	1	4	2	3	2	1	1	3	3	1	1	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:122537305G>A	ENST00000264357.5	+	9	1520	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	GRIA3_ENST00000542149.1_Missense_Mutation_p.D410N|GRIA3_ENST00000371256.5_Missense_Mutation_p.D410N|GRIA3_ENST00000371251.1_Missense_Mutation_p.D410N|GRIA3_ENST00000541091.1_Missense_Mutation_p.D394N	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	410					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GCCTTTCTCAGATCAGCAAAT	0.443													58	97					0	0	0	0	A	122537305	G	A	122537305	3	1	184	1	0	0	0	0	1	0	0	0	6819	942	33	2	1262	2	GRIA3	23	122537305	Missense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	3531897	122537305	32733255	553	32665											
IGSF1	3547	broad.mit.edu	37	chrX	130410218	130410218	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagagtgggtttggggtaGaattctgaaattaaagagac	14	10	15	2	0	1	4	0	1	1	3	1	6	1	4	0	4	0	2	0	4	5	4			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:130410218G>A	ENST00000370904.1	-	21	3496	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F	IGSF1_ENST00000361420.3_Silent_p.F871F|IGSF1_ENST00000370903.3_Silent_p.F876F|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Silent_p.F862F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	871	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTTTGGGGTAGAATTCTGAAA	0.473													11	20					0	0	0	0	A	130410218	G	A	130410218	2	1	184	1	0	0	0	0	0	0	0	1	7649	933	33	2		2	IGSF1	23	130410218	Silent	SNP	G	TCGA-CR-6481-01A-11D-1870-08	7872913	130410218	24860342	554	32666											
GABRA3	2556	broad.mit.edu	37	chrX	151366158	151366158	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagccagaacgacacttgtGacagaatgacagtcatgata	15	8	10	8	1	1	6	1	4	0	2	1	7	1	6	1	0	2	0	1	0	3	2			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:151366158G>C	ENST00000370314.4	-	8	1116	c.878C>G	c.(877-879)tCa>tGa	p.S293*	GABRA3_ENST00000535043.1_Nonsense_Mutation_p.S293*|GABRA3_ENST00000370311.1_Nonsense_Mutation_p.S293*	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	293					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGACACTTGTGACAGAATGAC	0.453													12	34					0	0	0	0	C	151366158	G	C	151366158	4	2	184	1	0	0	0	0	0	1	0	0	6210	1294	45	2	612	2	GABRA3	23	151366158	Nonsense_Mutation	SNP	G	TCGA-CR-6481-01A-11D-1870-08	20955940	151366158	3904402	555	32667											
FBXO44	93611	broad.mit.edu	37	chr1	11718436	11718436	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccaggtcaagaaatacttCgttacttcatattagtaaga	15	12	7	7	1	2	2	2	0	0	2	3	3	2	2	1	1	2	2	1	1	7	7			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:11718436C>T	ENST00000376770.1	+	4	876	c.378C>T	c.(376-378)ttC>ttT	p.F126F	FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376768.1_Intron|FBXO44_ENST00000251547.5_Silent_p.F126F|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376762.4_Intron	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	126	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAATACTTCGTTACTTCAT	0.527													28	81					0	0	0	0	T	11718436	C	T	11718436	2	4	185	1	0	0	0	0	0	0	0	1	5798	883	31	1		1	FBXO44	1	11718436	Silent	SNP	C	TCGA-CR-6482-01A-11D-1870-08		11718436	237532185	1	32668											
NBPF3	84224	broad.mit.edu	37	chr1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggactcactggatagatTttattcaactccttttgagt	10	15	8	8	0	2	2	2	1	0	1	3	4	3	4	1	2	1	1	1	2	3	6			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:21806606T>G	ENST00000318220.6	+	14	2151	c.1103T>G	c.(1102-1104)tTt>tGt	p.F368C	NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 2.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGATAGATTTTATTCAACT	0.468													3	97					0	0	0	0	G	21806606	T	G	21806606	3	3	185	1	0	0	0	0	1	0	0	0	10267	1841	64	5	1309	5	NBPF3	1	21806606	Missense_Mutation	SNP	T	TCGA-CR-6482-01A-11D-1870-08	10088170	21806606	227444015	2	32669											
JAK1	3716	broad.mit.edu	37	chr1	65332750	65332750	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttcaccttcaggtcatgCgtggacacgctgctgtcaca	8	12	9	12	2	4	0	4	0	0	0	4	1	4	1	1	2	2	2	1	2	1	3			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:65332750C>T	ENST00000342505.4	-	7	1037	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	263	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCAGGTCATGCGTGGACACGC	0.398			Mis		ALL								4	144					0	0	0	0	T	65332750	C	T	65332750	2	4	185	1	0	0	0	0	0	0	0	1	7990	755	27	1		1	JAK1	1	65332750	Silent	SNP	C	TCGA-CR-6482-01A-11D-1870-08	43526144	65332750	183917871	3	32670											
CSF1	1435	broad.mit.edu	37	chr1	110466699	110466699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggccatgagaggcagtccGagggatccttcagcccgcag	9	5	14	13	2	1	1	1	1	0	1	3	4	3	2	4	3	1	2	4	3	0	1			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:110466699G>A	ENST00000329608.6	+	6	1847	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	CSF1_ENST00000420111.2_Missense_Mutation_p.E188K|CSF1_ENST00000369801.1_Missense_Mutation_p.E370K|CSF1_ENST00000369802.3_Missense_Mutation_p.E486K|CSF1_ENST00000344188.5_Missense_Mutation_p.E370K	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	486					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGGCAGTCCGAGGGATCCTT	0.612													20	61					0	0	0	0	A	110466699	G	A	110466699	3	1	185	1	0	0	0	0	1	0	0	0	3963	1059	37	1	1478	1	CSF1	1	110466699	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08	45133949	110466699	138783922	4	32671											
HRNR	388697	broad.mit.edu	37	chr1	152188507	152188507	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaaatccagaagactgAcctgagccagacccatgtcg	13	6	9	13	1	0	6	0	3	0	3	2	6	1	6	5	0	1	0	5	0	2	0			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:152188507A>T	ENST00000368801.2	-	3	5673	c.5598T>A	c.(5596-5598)ggT>ggA	p.G1866G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1866					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAAGACTGACCTGAGCCAG	0.582													64	1133					0	0	0	0	T	152188507	A	T	152188507	2	4	185	1	0	0	0	0	0	0	0	1	7409	262	10	5		5	HRNR	1	152188507	Silent	SNP	A	TCGA-CR-6482-01A-11D-1870-08	41721808	152188507	97062114	5	32672											
TRIM46	80128	broad.mit.edu	37	chr1	155152367	155152367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacaaggccggctacggCgaatacagtgaagatgtgca	13	6	13	9	3	0	2	0	1	0	1	0	3	0	2	1	3	5	3	1	3	6	2			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:155152367C>T	ENST00000368382.1	+	8	1613	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	TRIM46_ENST00000368383.3_Silent_p.G515G|TRIM46_ENST00000368385.4_Silent_p.G515G|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Silent_p.G389G|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000334634.4_Silent_p.G515G|TRIM46_ENST00000392451.2_3'UTR	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	515	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGGCTACGGCGAATACAGTG	0.657													8	25					0	0	0	0	T	155152367	C	T	155152367	2	4	185	1	0	0	0	0	0	0	0	1	16616	755	27	1		1	TRIM46	1	155152367	Silent	SNP	C	TCGA-CR-6482-01A-11D-1870-08	2963860	155152367	94098254	6	32673											
ISG20L2	81875	broad.mit.edu	37	chr1	156696882	156696882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgcccctttggtcctgtgCccaccatctcacagtcaatt	7	12	6	16	0	2	0	2	0	1	0	4	0	3	0	5	1	2	0	5	1	1	2			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr1:156696882C>T	ENST00000313146.6	-	1	1345	c.563G>A	c.(562-564)gGc>gAc	p.G188D	ISG20L2_ENST00000368219.1_Missense_Mutation_p.G188D	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	188	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGTCCTGTGCCCACCATCTC	0.517											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	164					0	0	0	0	T	156696882	C	T	156696882	3	4	185	1	0	0	0	0	1	0	0	0	7908	739	26	4	510	4	ISG20L2	1	156696882	Missense_Mutation	SNP	C	TCGA-CR-6482-01A-11D-1870-08	1544515	156696882	92553739	7	32674											
RASGRP3	25780	broad.mit.edu	37	chr2	33764264	33764264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatcaacaagcacataaGgaaattagtggaggtaagtg	16	8	12	5	0	2	0	2	0	0	0	2	2	2	2	0	4	2	2	0	4	6	3			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr2:33764264G>T	ENST00000403687.3	+	12	2005	c.1265G>T	c.(1264-1266)aGg>aTg	p.R422M	RASGRP3_ENST00000407811.1_Missense_Mutation_p.R421M|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R422M	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	422	EF-hand 1.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AAGCACATAAGGAAATTAGTG	0.517													3	10					0.00909568	0.0093632	1	0	T	33764264	G	T	33764264	3	4	185	1	0	0	0	0	1	0	0	0	13158	1000	35	4	1303	4	RASGRP3	2	33764264	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08		33764264	209435109	8	32675											
ZFYVE20	64145	broad.mit.edu	37	chr3	15115677	15115677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattgtactctttcaggatgCgggctgaagggtctaaggaa	10	11	14	6	1	3	1	1	1	2	0	3	4	3	3	0	4	2	2	0	4	4	4	rs147577833	byFrequency	TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr3:15115677C>T	ENST00000253699.3	-	14	2580	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	656	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TTTCAGGATGCGGGCTGAAGG	0.562													4	102					0	0	0	0	T	15115677	C	T	15115677	3	4	185	1	0	0	0	0	1	0	0	0	17761	768	27	1	391	1	ZFYVE20	3	15115677	Missense_Mutation	SNP	C	TCGA-CR-6482-01A-11D-1870-08		15115677	182906753	9	32676											
UBA3	9039	broad.mit.edu	37	chr3	69111272	69111272	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcaacatccttacatacTcaatacagtgttctggtagc	12	12	6	11	0	2	0	1	0	1	0	3	0	3	0	1	1	6	3	1	1	6	5			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr3:69111272T>A	ENST00000361055.4	-	10	806	c.752A>T	c.(751-753)gAg>gTg	p.E251V	UBA3_ENST00000415609.2_Missense_Mutation_p.E210V|UBA3_ENST00000349511.4_Missense_Mutation_p.E237V|UBA3_ENST00000540295.1_Missense_Mutation_p.E74V	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	251					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		CCTTACATACTCAATACAGTG	0.343													20	74					0	0	0	0	A	69111272	T	A	69111272	3	1	185	1	0	0	0	0	1	0	0	0	16925	1551	54	5	675	5	UBA3	3	69111272	Missense_Mutation	SNP	T	TCGA-CR-6482-01A-11D-1870-08	53995595	69111272	128911158	10	32677											
POLQ	10721	broad.mit.edu	37	chr3	121208235	121208235	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtgtttcatataaacAttctggttttttgaaccatt	10	19	6	6	0	3	1	2	1	1	0	3	1	3	1	1	2	2	2	1	2	4	8			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr3:121208235A>G	ENST00000264233.5	-	16	3671	c.3543T>C	c.(3541-3543)aaT>aaC	p.N1181N		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1181					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCATATAAACATTCTGGTTTT	0.378								DNA polymerases (catalytic subunits)					7	204					0	0	0	0	G	121208235	A	G	121208235	2	3	185	1	0	0	0	0	0	0	0	1	12280	214	8	5		5	POLQ	3	121208235	Silent	SNP	A	TCGA-CR-6482-01A-11D-1870-08	52096963	121208235	76814195	11	32678											
KALRN	8997	broad.mit.edu	37	chr3	124103747	124103747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagcagttggctcagaCgggggaatgtgaccccgagg	10	5	17	9	2	1	3	1	1	0	2	1	5	1	4	2	4	2	4	2	4	1	1			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr3:124103747C>T	ENST00000360013.3	+	11	1947	c.1820C>T	c.(1819-1821)aCg>aTg	p.T607M	KALRN_ENST00000240874.3_Missense_Mutation_p.T607M|KALRN_ENST00000460856.1_Missense_Mutation_p.T607M	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	607					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTGGCTCAGACGGGGGAATGT	0.577													7	53					0	0	0	0	T	124103747	C	T	124103747	3	4	185	1	0	0	0	0	1	0	0	0	8028	536	19	1	1862	1	KALRN	3	124103747	Missense_Mutation	SNP	C	TCGA-CR-6482-01A-11D-1870-08	2895512	124103747	73918683	12	32679											
NCK1	4690	broad.mit.edu	37	chr3	136664745	136664745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaattagcagcagtcGtcaataacctaaatactggg	16	8	9	8	1	1	1	1	0	0	1	2	2	1	1	1	1	4	2	1	1	7	4	rs149750260		TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr3:136664745G>A	ENST00000469404.1	+	2	446	c.355G>A	c.(355-357)Gtc>Atc	p.V119I	NCK1_ENST00000288986.2_Missense_Mutation_p.V183I|NCK1_ENST00000481752.1_Missense_Mutation_p.V183I	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	183	SH3 2.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						AGCAGCAGTCGTCAATAACCT	0.428													27	114					0	0	0	0	A	136664745	G	A	136664745	3	1	185	1	0	0	0	0	1	0	0	0	10289	1145	40	1	553	1	NCK1	3	136664745	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08	12560998	136664745	61357685	13	32680											
TAF7	6879	broad.mit.edu	37	chr5	140698816	140698816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcattttcctggtgctgttCatctgattcatttagcttgt	5	21	7	8	0	4	1	3	1	1	0	5	1	5	1	1	1	2	3	1	1	1	8			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr5:140698816C>T	ENST00000313368.5	-	1	1514	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	266					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGCTGTTCATCTGATTCA	0.448													32	125					0	0	0	0	T	140698816	C	T	140698816	3	4	185	1	0	0	0	0	1	0	0	0	15623	835	29	2	257	2	TAF7	5	140698816	Missense_Mutation	SNP	C	TCGA-CR-6482-01A-11D-1870-08		140698816	40216444	14	32681											
PCDH12	51294	broad.mit.edu	37	chr5	141325324	141325324	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaggggcaaagagagtctCgccatccaggccgggtcagg	9	5	17	10	2	2	2	1	1	1	1	4	3	3	2	3	5	0	1	3	5	1	0			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr5:141325324C>T	ENST00000231484.3	-	4	4387	c.3177G>A	c.(3175-3177)gcG>gcA	p.A1059A		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1059					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAGAGTCTCGCCATCCAGG	0.667													20	56					0	0	0	0	T	141325324	C	T	141325324	2	4	185	1	0	0	0	0	0	0	0	1	11581	871	31	1		1	PCDH12	5	141325324	Silent	SNP	C	TCGA-CR-6482-01A-11D-1870-08	626508	141325324	39589936	15	32682											
GFRAL	389400	broad.mit.edu	37	chr6	55223938	55223938	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catagaaaatcatgtttcagTaagttccccaaataaaatta	18	12	4	7	0	2	1	2	0	0	1	3	1	3	1	2	0	0	3	2	0	8	6			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr6:55223938T>C	ENST00000340465.2	+	6	1038		c.e6+2			NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like							integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATGTTTCAGTAAGTTCCCCA	0.343													8	41					0	0	0	0	C	55223938	T	C	55223938	5	2	185	1	0	0	0	0	0	0	1	0	6402	1652	57	5	976	5	GFRAL	6	55223938	Splice_Site	SNP	T	TCGA-CR-6482-01A-11D-1870-08		55223938	115891129	16	32683											
DST	667	broad.mit.edu	37	chr6	56472764	56472764	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccaagtctccatcgtacAgcaaaagcctttgccctgtg	10	10	7	14	1	1	0	0	0	1	0	4	0	2	0	4	0	4	2	4	0	4	2			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr6:56472764A>T	ENST00000370754.5	-	39	6562	c.6563T>A	c.(6562-6564)cTg>cAg	p.L2188Q	DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.L2010Q|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.L2010Q|DST_ENST00000446842.2_Missense_Mutation_p.L1684Q|DST_ENST00000370769.4_Missense_Mutation_p.L2010Q			Q03001	DYST_HUMAN	dystonin	2010					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCATCGTACAGCAAAAGCCT	0.393													19	51					0	0	0	0	T	56472764	A	T	56472764	3	4	185	1	0	0	0	0	1	0	0	0	4819	203	7	5		5	DST	6	56472764	Missense_Mutation	SNP	A	TCGA-CR-6482-01A-11D-1870-08	1248826	56472764	114642303	17	32684											
GPRC6A	222545	broad.mit.edu	37	chr6	117128262	117128262	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccaaccagatttctgaatCaggtgagccattgctttaat	11	14	7	9	0	2	3	1	2	1	1	3	3	3	3	3	1	3	1	3	1	3	5			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr6:117128262C>G	ENST00000310357.3	-	3	627	c.606G>C	c.(604-606)ctG>ctC	p.L202L	GPRC6A_ENST00000368549.3_Silent_p.L202L|GPRC6A_ENST00000530250.1_Silent_p.L202L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	202					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATTTCTGAATCAGGTGAGCCA	0.398													50	171					0	0	0	0	G	117128262	C	G	117128262	2	3	185	1	0	0	0	0	0	0	0	1	6778	813	29	2		2	GPRC6A	6	117128262	Silent	SNP	C	TCGA-CR-6482-01A-11D-1870-08	60655498	117128262	53986805	18	32685											
MYB	4602	broad.mit.edu	37	chr6	135510957	135510957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgtgcagtgccagcaccGatggcagaaagtactaaacc	14	6	11	10	1	0	2	0	0	0	2	0	3	0	2	3	1	5	4	3	1	4	2			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr6:135510957G>A	ENST00000341911.5	+	4	441	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	MYB_ENST00000525369.1_Missense_Mutation_p.R81Q|MYB_ENST00000420123.2_Missense_Mutation_p.R57Q|MYB_ENST00000528774.1_Missense_Mutation_p.R81Q|MYB_ENST00000533624.1_Missense_Mutation_p.R81Q|MYB_ENST00000527615.1_Missense_Mutation_p.R81Q|MYB_ENST00000316528.8_Missense_Mutation_p.R81Q|MYB_ENST00000367814.4_Missense_Mutation_p.R81Q|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.R81Q|MYB_ENST00000442647.2_Missense_Mutation_p.R81Q|MYB_ENST00000534044.1_Missense_Mutation_p.R81Q	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	81	HTH myb-type 1.				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TGCCAGCACCGATGGCAGAAA	0.398			T	NFIB	adenoid cystic carcinoma								16	98					0	0	0	0	A	135510957	G	A	135510957	3	1	185	1	0	0	0	0	1	0	0	0	10077	1058	37	1	256	1	MYB	6	135510957	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08	18382695	135510957	35604110	19	32686											
KIAA1549	57670	broad.mit.edu	37	chr7	138601971	138601971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttgagaacaaagaagactCagttaaaatgggcgttgtgt	15	10	12	4	1	1	3	1	1	0	3	1	4	1	3	0	1	1	3	0	1	5	3			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr7:138601971C>T	ENST00000440172.1	-	2	2449	c.2401G>A	c.(2401-2403)Gag>Aag	p.E801K	KIAA1549_ENST00000242365.4_Missense_Mutation_p.E751K|KIAA1549_ENST00000422774.1_Missense_Mutation_p.E801K	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	801						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAAGAAGACTCAGTTAAAATG	0.512			O	BRAF	pilocytic astrocytoma								5	21					0	0	0	0	T	138601971	C	T	138601971	3	4	185	1	0	0	0	0	1	0	0	0	8295	835	29	2	3527	2	KIAA1549	7	138601971	Missense_Mutation	SNP	C	TCGA-CR-6482-01A-11D-1870-08		138601971	20536692	20	32687											
CSMD1	64478	broad.mit.edu	37	chr8	3076900	3076900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctggtaactcccaatgaGggggctgttggaatcttccc	7	10	12	12	0	1	1	0	1	1	0	3	2	3	2	3	4	1	3	3	4	3	3			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr8:3076900G>A	ENST00000520002.1	-	30	5107	c.4552C>T	c.(4552-4554)Ctc>Ttc	p.L1518F	CSMD1_ENST00000400186.3_Missense_Mutation_p.L1518F|CSMD1_ENST00000602723.1_Missense_Mutation_p.L1518F|CSMD1_ENST00000602557.1_Missense_Mutation_p.L1518F|CSMD1_ENST00000539096.1_Missense_Mutation_p.L1517F|CSMD1_ENST00000542608.1_Missense_Mutation_p.L1517F|CSMD1_ENST00000537824.1_Missense_Mutation_p.L1517F|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1518	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCCAATGAGGGGGCTGTTG	0.478													3	3					0	0	0	0	A	3076900	G	A	3076900	3	1	185	1	0	0	0	0	1	0	0	0	3976	1000	35	4	6313	4	CSMD1	8	3076900	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08		3076900	143287122	21	32688											
ARC	23237	broad.mit.edu	37	chr8	143695621	143695621	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcccgccgctggtccggtgGtccagctccatctgtgcgca	4	8	13	16	4	1	0	0	0	1	0	4	0	4	0	5	3	3	3	5	3	0	0			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr8:143695621G>A	ENST00000356613.2	-	1	1212	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	4					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGGTCCGGTGGTCCAGCTCCA	0.746													4	10					0	0	0	0	A	143695621	G	A	143695621	2	1	185	1	0	0	0	0	0	0	0	1	843	1252	44	4		4	ARC	8	143695621	Silent	SNP	G	TCGA-CR-6482-01A-11D-1870-08	140618721	143695621	2668401	22	32689											
NRBP2	340371	broad.mit.edu	37	chr8	144919254	144919254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctctggcgtcggggtcttgGccttttggacctcctccggg	1	12	15	13	3	2	0	0	0	2	0	5	1	4	1	4	6	0	1	4	6	0	3			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr8:144919254G>A	ENST00000442628.2	-	14	1359	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V	NRBP2_ENST00000327830.5_Missense_Mutation_p.A164V	NM_178564.3	NP_848659.2	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	407					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGGGGTCTTGGCCTTTTGGAC	0.607													42	103					0	0	0	0	A	144919254	G	A	144919254	3	1	185	1	0	0	0	0	1	0	0	0	10714	1203	42	4	305	4	NRBP2	8	144919254	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08	1223633	144919254	1444768	23	32690											
PLEC	5339	broad.mit.edu	37	chr8	144998170	144998170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgctcctcctccgccGccagctgccgctgcctcgca	2	6	10	23	6	0	0	0	0	0	0	4	0	3	0	9	0	3	4	9	0	0	0			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr8:144998170G>A	ENST00000322810.4	-	31	6507	c.6338C>T	c.(6337-6339)gCg>gTg	p.A2113V	PLEC_ENST00000356346.3_Missense_Mutation_p.A1962V|PLEC_ENST00000398774.2_Missense_Mutation_p.A1944V|PLEC_ENST00000527096.1_Missense_Mutation_p.A1999V|PLEC_ENST00000345136.3_Missense_Mutation_p.A1976V|PLEC_ENST00000354589.3_Missense_Mutation_p.A1976V|PLEC_ENST00000354958.2_Missense_Mutation_p.A1954V|PLEC_ENST00000357649.2_Missense_Mutation_p.A1980V|PLEC_ENST00000436759.2_Missense_Mutation_p.A2003V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2113	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCCTCCGCCGCCAGCTGCCG	0.741													8	7					0	0	0	0	A	144998170	G	A	144998170	3	1	185	1	0	0	0	0	1	0	0	0	12124	1087	38	1	7724	1	PLEC	8	144998170	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08	78916	144998170	1365852	24	32691											
LRSAM1	90678	broad.mit.edu	37	chr9	130259572	130259572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagcacgagatcctccGgagagtccaggaactgctgg	9	6	13	13	2	0	2	0	0	0	2	3	5	3	3	4	3	4	3	4	3	1	0			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr9:130259572G>A	ENST00000323301.4	+	23	2475	c.1871G>A	c.(1870-1872)cGg>cAg	p.R624Q	LRSAM1_ENST00000300417.6_Missense_Mutation_p.R624Q|LRSAM1_ENST00000373322.1_Missense_Mutation_p.R624Q|LRSAM1_ENST00000373324.4_Missense_Mutation_p.R597Q|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	624	SAM.				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GAGATCCTCCGGAGAGTCCAG	0.617													7	26					0	0	0	0	A	130259572	G	A	130259572	3	1	185	1	0	0	0	0	1	0	0	0	9107	1116	39	1	1957	1	LRSAM1	9	130259572	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08		130259572	10953859	25	32692											
FIBCD1	84929	broad.mit.edu	37	chr9	133805083	133805083	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagccggggcagctggtcGgccagcgtgtccagcagctc	6	5	16	14	3	0	0	0	0	0	0	3	0	1	0	3	4	6	5	3	4	0	0			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr9:133805083G>A	ENST00000372338.4	-	2	665	c.423C>T	c.(421-423)gcC>gcT	p.A141A	FIBCD1_ENST00000448616.1_Silent_p.A141A|FIBCD1_ENST00000253018.4_5'UTR|FIBCD1_ENST00000372337.2_5'UTR	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	141					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCAGCTGGTCGGCCAGCGTGT	0.731													5	9					0	0	0	0	A	133805083	G	A	133805083	2	1	185	1	0	0	0	0	0	0	0	1	5929	1103	39	1		1	FIBCD1	9	133805083	Silent	SNP	G	TCGA-CR-6482-01A-11D-1870-08	3545511	133805083	7408348	26	32693											
DYDC2	84332	broad.mit.edu	37	chr10	82126495	82126495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaccatattcatgcaggagGacacaaacccccttgagaag	15	6	9	11	0	1	2	1	1	0	2	1	5	1	4	3	2	2	1	3	2	3	3			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr10:82126495G>A	ENST00000372199.1	+	6	920	c.322G>A	c.(322-324)Gac>Aac	p.D108N	DYDC2_ENST00000372197.1_Missense_Mutation_p.D108N|DYDC2_ENST00000256039.2_Missense_Mutation_p.D108N|DYDC2_ENST00000444807.2_Missense_Mutation_p.D108N|DYDC2_ENST00000372198.1_Missense_Mutation_p.D122N			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	108							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CATGCAGGAGGACACAAACCC	0.438													4	147					0	0	0	0	A	82126495	G	A	82126495	3	1	185	1	0	0	0	0	1	0	0	0	4875	1174	41	2	332	2	DYDC2	10	82126495	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08		82126495	53408252	27	32694											
WAPAL	23063	broad.mit.edu	37	chr10	88277386	88277386	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttctacaattcggttTgtgctcttttctttcccaag	6	19	5	11	1	5	0	1	0	4	0	7	0	6	0	1	1	2	2	1	1	3	7			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr10:88277386T>C	ENST00000298767.5	-	2	913	c.441A>G	c.(439-441)acA>acG	p.T147T		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	147	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CAATTCGGTTTGTGCTCTTTT	0.363													3	76					0	0	0	0	C	88277386	T	C	88277386	2	2	185	1	0	0	0	0	0	0	0	1	17344	1799	63	5		5	WAPAL	10	88277386	Silent	SNP	T	TCGA-CR-6482-01A-11D-1870-08	6150891	88277386	47257361	28	32695											
FAM178A	55719	broad.mit.edu	37	chr10	102689617	102689617	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaattttcagttacaatTgatgctattcctgatcatca	14	15	5	7	0	3	3	3	2	0	1	4	3	4	3	1	0	2	2	1	0	5	6			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr10:102689617T>G	ENST00000238961.3	+	8	2344	c.2196T>G	c.(2194-2196)atT>atG	p.I732M	FAM178A_ENST00000370269.3_Missense_Mutation_p.I732M	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	732																	CAGTTACAATTGATGCTATTC	0.294													12	56					0	0	0	0	G	102689617	T	G	102689617	3	3	185	1	0	0	0	0	1	0	0	0	5544	1800	63	5	2226	5	FAM178A	10	102689617	Missense_Mutation	SNP	T	TCGA-CR-6482-01A-11D-1870-08	14412231	102689617	32845130	29	32696											
KNDC1	85442	broad.mit.edu	37	chr10	135015084	135015084	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcggatgtggactcggaCgcactgtcacggggaaactt	8	9	15	9	4	1	0	1	0	0	0	3	4	1	4	0	5	1	1	0	5	1	1	rs142572566		TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr10:135015084C>T	ENST00000304613.3	+	17	3090	c.3069C>T	c.(3067-3069)gaC>gaT	p.D1023D	KNDC1_ENST00000368571.2_Silent_p.D958D|KNDC1_ENST00000368572.2_Silent_p.D1025D			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1023					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGGACTCGGACGCACTGTCAC	0.627													13	55					0	0	0	0	T	135015084	C	T	135015084	2	4	185	1	0	0	0	0	0	0	0	1	8478	535	19	1		1	KNDC1	10	135015084	Silent	SNP	C	TCGA-CR-6482-01A-11D-1870-08	32325467	135015084	519663	30	32697											
PRG2	5553	broad.mit.edu	37	chr11	57154973	57154973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacagatgaaaggaagtCttctgaggcagtgggctcga	13	7	15	6	1	2	3	0	2	2	1	3	6	2	5	0	4	1	2	0	4	3	1			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr11:57154973C>A	ENST00000311862.5	-	6	717	c.644G>T	c.(643-645)aGa>aTa	p.R215I	PRG2_ENST00000533605.1_Missense_Mutation_p.R204I|PRG2_ENST00000525955.1_Missense_Mutation_p.R215I	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)		GAAAGGAAGTCTTCTGAGGCA	0.602													9	44					3.09899e-07	3.2868e-07	1	0	A	57154973	C	A	57154973	3	1	185	1	0	0	0	0	1	0	0	0	12559	913	32	2	28	2	PRG2	11	57154973	Missense_Mutation	SNP	C	TCGA-CR-6482-01A-11D-1870-08		57154973	77851543	31	32698											
PRICKLE1	144165	broad.mit.edu	37	chr12	42866219	42866219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccggggggacccaggCgtactcctccaatgcacagc	8	4	13	16	2	0	0	0	0	0	0	2	1	2	1	4	5	3	2	4	5	2	1			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr12:42866219C>T	ENST00000455697.1	-	2	385	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.A34T|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.A34T|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.A34T|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.A34T	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	34	PET.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGGACCCAGGCGTACTCCTCC	0.478													11	43					0	0	0	0	T	42866219	C	T	42866219	3	4	185	1	0	0	0	0	1	0	0	0	12566	768	27	1	2423	1	PRICKLE1	12	42866219	Missense_Mutation	SNP	C	TCGA-CR-6482-01A-11D-1870-08		42866219	90985676	32	32699											
PA2G4	5036	broad.mit.edu	37	chr12	56504766	56504766	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagcatttgaagatgagaaGaaggctcggatgggtgtggt	12	9	17	3	1	0	5	0	2	0	4	1	7	0	6	0	4	1	2	0	4	3	1			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr12:56504766G>C	ENST00000303305.6	+	10	1280	c.861G>C	c.(859-861)aaG>aaC	p.K287N	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	287					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AAGATGAGAAGAAGGCTCGGA	0.428													7	39					0	0	0	0	C	56504766	G	C	56504766	3	2	185	1	0	0	0	0	1	0	0	0	11432	933	33	2	899	2	PA2G4	12	56504766	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08	13638547	56504766	77347129	33	32700											
PA2G4	5036	broad.mit.edu	37	chr12	56505295	56505295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgcaagtcgaaaaacccaGaaaaagaaaaaaaagaaggt	23	4	8	6	1	1	3	0	0	1	3	2	4	1	3	1	1	2	1	1	1	10	0			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr12:56505295G>C	ENST00000303305.6	+	12	1520	c.1101G>C	c.(1099-1101)caG>caC	p.Q367H	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	367	Interaction with RNA (By similarity).|Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	p.Q367H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GAAAAACCCAGAAAAAGAAAA	0.393													22	104					0	0	0	0	C	56505295	G	C	56505295	3	2	185	1	0	0	0	0	1	0	0	0	11432	933	33	2	1147	2	PA2G4	12	56505295	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08	529	56505295	77346600	34	32701											
CHST11	50515	broad.mit.edu	37	chr12	105151235	105151235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggacgatgtcaaattcgAggagtttgtggcctatctca	10	11	13	7	2	2	0	2	0	1	0	4	4	2	2	1	4	0	1	1	4	2	3			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr12:105151235A>G	ENST00000303694.5	+	3	1152	c.713A>G	c.(712-714)gAg>gGg	p.E238G	CHST11_ENST00000549260.1_Missense_Mutation_p.E233G	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	238					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GTCAAATTCGAGGAGTTTGTG	0.567													20	57					0	0	0	0	G	105151235	A	G	105151235	3	3	185	1	0	0	0	0	1	0	0	0	3428	304	11	5	723	5	CHST11	12	105151235	Missense_Mutation	SNP	A	TCGA-CR-6482-01A-11D-1870-08	48645940	105151235	28700660	35	32702											
PABPC3	5042	broad.mit.edu	37	chr13	25670487	25670487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacttgatcaccagcggcTcctccaactacgcgtatgtg	8	9	11	13	3	1	1	1	1	0	0	3	2	3	2	3	2	3	2	3	2	3	3			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr13:25670487T>C	ENST00000281589.3	+	1	188	c.151T>C	c.(151-153)Tcc>Ccc	p.S51P		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	51	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CACCAGCGGCTCCTCCAACTA	0.562													12	53					0	0	0	0	C	25670487	T	C	25670487	3	2	185	1	0	0	0	0	1	0	0	0	11436	1551	54	5	153	5	PABPC3	13	25670487	Missense_Mutation	SNP	T	TCGA-CR-6482-01A-11D-1870-08		25670487	89499391	36	32703											
NID2	22795	broad.mit.edu	37	chr14	52473375	52473375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtacactccagttttttgGttccttttaaaacaaagggg	10	15	9	7	0	0	0	0	0	0	0	2	0	2	0	2	3	2	3	2	3	4	7			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr14:52473375G>A	ENST00000216286.5	-	20	3883	c.3884C>T	c.(3883-3885)aCc>aTc	p.T1295I	NID2_ENST00000541773.1_Missense_Mutation_p.T1194I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1295						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CAGTTTTTTGGTTCCTTTTAA	0.428													13	90					0	0	0	0	A	52473375	G	A	52473375	3	1	185	1	0	0	0	0	1	0	0	0	10485	1261	44	4	255	4	NID2	14	52473375	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08		52473375	54876165	37	32704											
CYFIP1	23191	broad.mit.edu	37	chr15	22956374	22956374	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctctcatgggctttttgaGtttggcataactaatgtacc	8	17	8	8	0	2	1	1	1	1	0	3	1	2	1	1	2	2	4	1	2	3	7			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr15:22956374G>A	ENST00000435939.2	+	1	620	c.318G>A	c.(316-318)gaG>gaA	p.E106E	CYFIP1_ENST00000560848.1_Intron|CYFIP1_ENST00000313077.7_Intron	NM_001033028.1	NP_001028200.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	0					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GGCTTTTTGAGTTTGGCATAA	0.547													8	29					0	0	0	0	A	22956374	G	A	22956374	2	1	185	1	0	0	0	0	0	0	0	1	4169	1020	36	4		4	CYFIP1	15	22956374	Silent	SNP	G	TCGA-CR-6482-01A-11D-1870-08		22956374	79575018	38	32705											
RYR3	6263	broad.mit.edu	37	chr15	34150099	34150099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgagcccgatatgaagtGcgacgacatgatgacggtga	12	7	14	8	5	0	5	0	5	0	0	0	9	0	5	1	1	2	0	1	1	2	1			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr15:34150099G>A	ENST00000389232.4	+	99	14196	c.14126G>A	c.(14125-14127)tGc>tAc	p.C4709Y	RYR3_ENST00000415757.3_Missense_Mutation_p.C4704Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4709				C -> R (in Ref. 6; CAA52326).	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATATGAAGTGCGACGACATG	0.592													6	41					0	0	0	0	A	34150099	G	A	34150099	3	1	185	1	0	0	0	0	1	0	0	0	13855	1319	46	4	14520	4	RYR3	15	34150099	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08	11193725	34150099	68381293	39	32706											
VPS18	57617	broad.mit.edu	37	chr15	41191580	41191580	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcggccctgctccggatctCtacttccgcccattgtacgt	4	13	8	16	4	1	0	0	0	1	0	5	1	3	1	4	2	3	2	4	2	2	5			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr15:41191580C>G	ENST00000220509.5	+	4	903	c.564C>G	c.(562-564)ctC>ctG	p.L188L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	188					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTCCGGATCTCTACTTCCGCC	0.602													14	72					0	0	0	0	G	41191580	C	G	41191580	2	3	185	1	0	0	0	0	0	0	0	1	17290	900	32	2		2	VPS18	15	41191580	Silent	SNP	C	TCGA-CR-6482-01A-11D-1870-08	7041481	41191580	61339812	40	32707											
MAP1A	4130	broad.mit.edu	37	chr15	43816968	43816968	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggataaagcaatagtCtttgagattatggaggcagg	14	9	13	5	0	1	1	0	1	1	1	1	4	1	3	0	4	1	3	0	4	5	4			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr15:43816968C>A	ENST00000382031.1	+	5	4042	c.4011C>A	c.(4009-4011)gtC>gtA	p.V1337V	MAP1A_ENST00000300231.5_Silent_p.V1099V|MAP1A_ENST00000399453.1_Silent_p.V1099V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1099				Missing (in Ref. 4; AAD00355).		cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGCAATAGTCTTTGAGATTA	0.547													18	76					4.54149e-19	5.0461e-19	1	0	A	43816968	C	A	43816968	2	1	185	1	0	0	0	0	0	0	0	1	9296	900	32	2		2	MAP1A	15	43816968	Silent	SNP	C	TCGA-CR-6482-01A-11D-1870-08	2625388	43816968	58714424	41	32708											
LRRK1	79705	broad.mit.edu	37	chr15	101589973	101589973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacgtcaattccttgattGatcagtggtttcccggtaag	9	13	9	10	2	2	2	2	2	0	0	4	2	4	2	3	2	0	2	3	2	2	5			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr15:101589973G>A	ENST00000284395.5	+	24	3815	c.3415G>A	c.(3415-3417)Gat>Aat	p.D1139N	LRRK1_ENST00000388948.3_Missense_Mutation_p.D1142N			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1142					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCTTGATTGATCAGTGGTT	0.463													11	43					0	0	0	0	A	101589973	G	A	101589973	3	1	185	1	0	0	0	0	1	0	0	0	9096	1290	45	2	3510	2	LRRK1	15	101589973	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08	57773005	101589973	941419	42	32709											
TPSD1	23430	broad.mit.edu	37	chr16	1306807	1306807	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcccagggacatcaaGgatctggccgccctcagggt	7	6	13	15	2	3	0	2	0	1	0	3	2	3	2	4	4	1	1	4	4	1	0			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr16:1306807G>C	ENST00000211076.3	+	3	412	c.264G>C	c.(262-264)aaG>aaC	p.K88N	TPSD1_ENST00000397534.2_Missense_Mutation_p.K81N	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	88	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GGGACATCAAGGATCTGGCCG	0.667													3	25					0	0	0	0	C	1306807	G	C	1306807	3	2	185	1	0	0	0	0	1	0	0	0	16520	991	35	4	274	4	TPSD1	16	1306807	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08		1306807	89047946	43	32710											
MYO15A	51168	broad.mit.edu	37	chr17	18057108	18057108	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctgccctcgcgatcgctGgagccccctgaggaactcac	6	7	11	17	3	2	1	1	1	1	0	4	4	2	3	3	2	3	2	3	2	1	0			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr17:18057108G>A	ENST00000205890.5	+	43	8324	c.7986G>A	c.(7984-7986)ctG>ctA	p.L2662L	MYO15A_ENST00000418233.3_5'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2662	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGCGATCGCTGGAGCCCCCTG	0.527													4	33					0	0	0	0	A	18057108	G	A	18057108	2	1	185	1	0	0	0	0	0	0	0	1	10133	1335	47	4		4	MYO15A	17	18057108	Silent	SNP	G	TCGA-CR-6482-01A-11D-1870-08		18057108	63138102	44	32711											
TANC2	26115	broad.mit.edu	37	chr17	61391920	61391920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaaggagtagtgattgtggGaaacattggattcggcaaaa	14	9	13	5	1	0	1	0	1	0	0	1	4	0	4	1	4	1	2	1	4	5	4			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr17:61391920G>A	ENST00000424789.2	+	8	1113	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.G370E	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	370							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GTGATTGTGGGAAACATTGGA	0.498													21	90					0	0	0	0	A	61391920	G	A	61391920	3	1	185	1	0	0	0	0	1	0	0	0	15636	1174	41	2	1139	2	TANC2	17	61391920	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08	43334812	61391920	19803290	45	32712											
FASN	2194	broad.mit.edu	37	chr17	80045301	80045301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtacaggccgtgcttggcCgagcccaggatggacatctg	8	7	15	11	2	1	0	0	0	1	0	1	3	1	2	3	5	3	2	3	5	1	2	rs146226779		TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr17:80045301C>T	ENST00000306749.2	-	20	3341	c.3123G>A	c.(3121-3123)tcG>tcA	p.S1041S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1041					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CGTGCTTGGCCGAGCCCAGGA	0.622													10	50					0	0	0	0	T	80045301	C	T	80045301	2	4	185	1	0	0	0	0	0	0	0	1	5728	639	23	1		1	FASN	17	80045301	Silent	SNP	C	TCGA-CR-6482-01A-11D-1870-08	18653381	80045301	1149909	46	32713											
LRRC30	339291	broad.mit.edu	37	chr18	7231177	7231177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccagctccaaggataaggGccccaagaggatgctgttca	11	6	13	11	0	1	1	1	0	0	1	2	3	2	3	4	4	2	3	4	4	3	2			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr18:7231177G>A	ENST00000383467.2	+	1	55	c.41G>A	c.(40-42)gGc>gAc	p.G14D		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	14										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AAGGATAAGGGCCCCAAGAGG	0.632													11	73					0	0	0	0	A	7231177	G	A	7231177	3	1	185	1	0	0	0	0	1	0	0	0	9049	1203	42	4	43	4	LRRC30	18	7231177	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08		7231177	70846071	47	32714											
MPPE1	65258	broad.mit.edu	37	chr18	11893497	11893497	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacttcccttcatcaaaGatatcccccaggatgaagac	12	9	5	15	0	2	3	2	1	0	2	5	4	5	4	4	1	0	0	4	1	3	3			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr18:11893497G>T	ENST00000588072.1	-	4	1581	c.360C>A	c.(358-360)atC>atA	p.I120I	MPPE1_ENST00000309976.9_Silent_p.I120I|MPPE1_ENST00000317235.7_Silent_p.I120I|MPPE1_ENST00000344987.7_Silent_p.I120I|MPPE1_ENST00000399978.2_Silent_p.I120I	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	120					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CTTCATCAAAGATATCCCCCA	0.537													17	32					1.56452e-12	1.7112e-12	1	0	T	11893497	G	T	11893497	2	4	185	1	0	0	0	0	0	0	0	1	9810	932	33	2		2	MPPE1	18	11893497	Silent	SNP	G	TCGA-CR-6482-01A-11D-1870-08	4662320	11893497	66183751	48	32715											
CYP4F12	66002	broad.mit.edu	37	chr19	15807840	15807840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctggaattgatcatgcGcgccgagggcgggctttggc	7	8	17	9	4	1	1	1	1	0	0	1	4	1	2	1	4	2	2	1	4	2	2			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr19:15807840G>A	ENST00000550308.1	+	13	1900	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R507H	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TTGATCATGCGCGCCGAGGGC	0.562													9	41					0	0	0	0	A	15807840	G	A	15807840	3	1	185	1	0	0	0	0	1	0	0	0	4219	1087	38	1	1566	1	CYP4F12	19	15807840	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08		15807840	43321143	49	32716											
GNG8	94235	broad.mit.edu	37	chr19	47137457	47137457	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttccgctgctgcctgcGacacctgcgagcacccgggt	5	7	14	15	4	0	0	0	0	0	0	1	3	1	1	4	2	5	4	4	2	0	1			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr19:47137457G>T	ENST00000300873.4	-	2	91	c.89C>A	c.(88-90)tCg>tAg	p.S30*		NM_033258.1	NP_150283.1	Q9UK08	GBG8_HUMAN	guanine nucleotide binding protein (G protein), gamma 8	30					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity						Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.000621)|Epithelial(262;0.0171)|GBM - Glioblastoma multiforme(486;0.0325)		TGCTGCCTGCGACACCTGCGA	0.677													6	11					0.00198382	0.00207265	1	0	T	47137457	G	T	47137457	4	4	185	1	0	0	0	0	0	1	0	0	6583	1059	37	3	126	3	GNG8	19	47137457	Nonsense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08	31329617	47137457	11991526	50	32717											
GRIN2D	2906	broad.mit.edu	37	chr19	48922614	48922614	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgcagcctggccacgggcaAgcgtgagtcccccttcctcc	5	6	11	19	3	0	1	0	1	0	0	3	1	3	1	7	2	2	2	7	2	1	1			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr19:48922614A>G	ENST00000263269.3	+	8	1947	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	620						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCCACGGGCAAGCGTGAGTCC	0.597													7	31					0	0	0	0	G	48922614	A	G	48922614	3	3	185	1	0	0	0	0	1	0	0	0	6832	72	3	5	1885	5	GRIN2D	19	48922614	Missense_Mutation	SNP	A	TCGA-CR-6482-01A-11D-1870-08	1785157	48922614	10206369	51	32718											
ZNF543	125919	broad.mit.edu	37	chr19	57838010	57838010	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgcacaggctgtccttTgttcaaaccagagctgatct	9	12	8	12	0	2	2	1	1	1	1	4	2	4	2	3	1	3	4	3	1	1	2			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr19:57838010T>C	ENST00000321545.4	+	3	500	c.155T>C	c.(154-156)tTg>tCg	p.L52S		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		GGCTGTCCTTTGTTCAAACCA	0.493													10	51					0	0	0	0	C	57838010	T	C	57838010	3	2	185	1	0	0	0	0	1	0	0	0	18071	1821	63	5	165	5	ZNF543	19	57838010	Missense_Mutation	SNP	T	TCGA-CR-6482-01A-11D-1870-08	8915396	57838010	1290973	52	32719											
CHODL	140578	broad.mit.edu	37	chr21	19628972	19628972	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagccttgagaatgaagcaGaacagaagttaatagagagc	17	7	11	6	0	1	5	1	2	0	4	1	7	1	5	1	0	4	2	1	0	6	3			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr21:19628972G>C	ENST00000299295.2	+	2	617	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	CHODL_ENST00000543733.1_Missense_Mutation_p.E57Q|CHODL_ENST00000338326.3_Missense_Mutation_p.E35Q|CHODL_ENST00000400127.1_Missense_Mutation_p.E35Q|CHODL_ENST00000400128.1_Missense_Mutation_p.E35Q|CHODL_ENST00000400131.1_Missense_Mutation_p.E35Q|CHODL_ENST00000400135.1_Missense_Mutation_p.E35Q	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	76	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GAATGAAGCAGAACAGAAGTT	0.512													19	79					0	0	0	0	C	19628972	G	C	19628972	3	2	185	1	0	0	0	0	1	0	0	0	3393	943	33	2	232	2	CHODL	21	19628972	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08		19628972	28500923	53	32720											
PRODH	5625	broad.mit.edu	37	chr22	18906002	18906002	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcacattgtcataggcAtcctgtggggccagggccaa	9	8	14	10	0	2	0	2	0	0	0	3	0	3	0	3	5	0	1	3	5	2	2			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr22:18906002A>C	ENST00000357068.6	-	11	1519	c.1254T>G	c.(1252-1254)gaT>gaG	p.D418E	PRODH_ENST00000420436.1_Missense_Mutation_p.D310E|PRODH_ENST00000334029.2_Missense_Mutation_p.D310E	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	418					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	TGTCATAGGCATCCTGTGGGG	0.662													3	21					0	0	0	0	C	18906002	A	C	18906002	3	2	185	1	0	0	0	0	1	0	0	0	12628	214	8	5	564	5	PRODH	22	18906002	Missense_Mutation	SNP	A	TCGA-CR-6482-01A-11D-1870-08		18906002	32398564	54	32721											
RGL4	266747	broad.mit.edu	37	chr22	24038844	24038844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggagaggaacccccagaGagtccagatgaggctgcgga	12	3	15	11	1	0	4	0	1	0	3	1	8	1	6	4	4	2	1	4	4	1	0			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr22:24038844G>A	ENST00000290691.5	+	7	2300	c.1130G>A	c.(1129-1131)aGa>aAa	p.R377K	RGL4_ENST00000401461.1_Missense_Mutation_p.R241K	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	377	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						AACCCCCAGAGAGTCCAGATG	0.652													7	26					0	0	0	0	A	24038844	G	A	24038844	3	1	185	1	0	0	0	0	1	0	0	0	13361	942	33	2	1156	2	RGL4	22	24038844	Missense_Mutation	SNP	G	TCGA-CR-6482-01A-11D-1870-08	5132842	24038844	27265722	55	32722											
CDC42EP1	11135	broad.mit.edu	37	chr22	37962716	37962716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccatcatcaagaacgccatCtccctgccccagctcaacca	11	6	4	20	1	4	1	3	0	1	1	5	1	4	1	6	0	4	1	6	0	3	0			TCGA-CR-6482-01A-11D-1870-08	TCGA-CR-6482-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684bcd80-30fb-49e5-b72a-09502a9d1468	b03408fe-f1c6-4276-9c02-1d783cc12fa5	g.chr22:37962716C>G	ENST00000249014.4	+	2	780	c.360C>G	c.(358-360)atC>atG	p.I120M		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	120					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					AGAACGCCATCTCCCTGCCCC	0.692													16	82					0	0	0	0	G	37962716	C	G	37962716	3	3	185	1	0	0	0	0	1	0	0	0	3104	903	32	2	362	2	CDC42EP1	22	37962716	Missense_Mutation	SNP	C	TCGA-CR-6482-01A-11D-1870-08	13923872	37962716	13341850	56	32723											
NMNAT1	64802	broad.mit.edu	37	chr1	10032236	10032236	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctggccaaggactacatGaatggaacaggtaggagcag	14	5	15	7	0	0	1	0	1	0	0	0	5	0	4	1	5	4	3	1	5	5	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:10032236G>C	ENST00000377205.1	+	2	249	c.105G>C	c.(103-105)atG>atC	p.M35I	NMNAT1_ENST00000492735.1_3'UTR|NMNAT1_ENST00000403197.1_Missense_Mutation_p.M35I	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	35					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		AGGACTACATGAATGGAACAG	0.493													29	150					0	0	0	0	C	10032236	G	C	10032236	3	2	186	1	0	0	0	0	1	0	0	0	10568	1290	45	2	107	2	NMNAT1	1	10032236	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08		10032236	239218385	1	32724											
SPEN	23013	broad.mit.edu	37	chr1	16259153	16259153	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcatcccagttgaaaagtGatccagttgatccagacaag	14	10	8	9	0	1	4	1	3	0	1	4	4	4	4	3	0	0	2	3	0	4	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:16259153G>C	ENST00000375759.3	+	11	6622	c.6418G>C	c.(6418-6420)Gat>Cat	p.D2140H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2140	Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTTGAAAAGTGATCCAGTTGA	0.547													26	115					0	0	0	0	C	16259153	G	C	16259153	3	2	186	1	0	0	0	0	1	0	0	0	15128	1290	45	2	6460	2	SPEN	1	16259153	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	6226917	16259153	232991468	2	32725											
SFN	2810	broad.mit.edu	37	chr1	27190100	27190100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actactaccgctacctggccGaggtggccaccggtgacgac	8	6	12	15	4	0	1	0	1	0	0	0	3	0	1	5	4	3	1	5	4	3	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:27190100G>A	ENST00000339276.4	+	1	468	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	133					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	p.E133K(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CTACCTGGCCGAGGTGGCCAC	0.622													10	50					0	0	0	0	A	27190100	G	A	27190100	3	1	186	1	0	0	0	0	1	0	0	0	14246	1059	37	1	399	1	SFN	1	27190100	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	10930947	27190100	222060521	3	32726											
SPOCD1	90853	broad.mit.edu	37	chr1	32257825	32257825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taggcactcacctgggccccCcaaagggcgcagcctggtgg	7	5	14	15	1	1	0	1	0	0	0	1	0	1	0	5	5	1	2	5	5	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:32257825C>T	ENST00000360482.2	-	15	3082	c.2953G>A	c.(2953-2955)Ggg>Agg	p.G985R	SPOCD1_ENST00000533231.1_Missense_Mutation_p.G985R|SPOCD1_ENST00000257100.3_Missense_Mutation_p.G478R|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	985					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCTGGGCCCCCCAAAGGGCGC	0.662													3	7					0	0	0	0	T	32257825	C	T	32257825	3	4	186	1	0	0	0	0	1	0	0	0	15168	623	22	4	705	4	SPOCD1	1	32257825	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	5067725	32257825	216992796	4	32727											
KPNA6	23633	broad.mit.edu	37	chr1	32622524	32622524	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgatagtcttctcatggactCttatgtgagctctaccactg	8	14	8	11	1	4	1	1	1	4	0	5	3	4	2	1	1	2	1	1	1	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:32622524C>G	ENST00000373625.3	+	3	302	c.209C>G	c.(208-210)tCt>tGt	p.S70C	KPNA6_ENST00000537234.1_Missense_Mutation_p.S67C|KPNA6_ENST00000545542.1_Missense_Mutation_p.S75C|KPNA6_ENST00000469790.1_3'UTR	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	70					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTCATGGACTCTTATGTGAGC	0.458													5	78					0	0	0	0	G	32622524	C	G	32622524	3	3	186	1	0	0	0	0	1	0	0	0	8486	913	32	2	219	2	KPNA6	1	32622524	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	364699	32622524	216628097	5	32728											
DCDC2B	149069	broad.mit.edu	37	chr1	32678154	32678154	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtaactggccattactaTgtggctgtcggagaggatga	9	11	14	7	1	0	2	0	1	0	1	1	4	0	3	1	5	2	2	1	5	3	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:32678154T>C	ENST00000409358.1	+	5	591	c.591T>C	c.(589-591)taT>taC	p.Y197Y		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	197	Doublecortin 2.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCCATTACTATGTGGCTGTCG	0.592													7	46					0	0	0	0	C	32678154	T	C	32678154	2	2	186	1	0	0	0	0	0	0	0	1	4318	1471	51	5		5	DCDC2B	1	32678154	Silent	SNP	T	TCGA-CR-6484-01A-11D-1870-08	55630	32678154	216572467	6	32729											
MCOLN3	55283	broad.mit.edu	37	chr1	85488044	85488044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacacgagcatggtagaagTcccaagaagtatgctacaga	15	6	10	10	1	0	3	0	0	0	3	1	4	1	3	2	1	3	4	2	1	6	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:85488044T>C	ENST00000370589.2	-	10	1187	c.1135A>G	c.(1135-1137)Act>Gct	p.T379A	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.T323A	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	379						integral to membrane	ion channel activity	p.T379P(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATGGTAGAAGTCCCAAGAAGT	0.388													5	29					0	0	0	0	C	85488044	T	C	85488044	3	2	186	1	0	0	0	0	1	0	0	0	9466	1667	58	5	542	5	MCOLN3	1	85488044	Missense_Mutation	SNP	T	TCGA-CR-6484-01A-11D-1870-08	52809890	85488044	163762577	7	32730											
COL11A1	1301	broad.mit.edu	37	chr1	103364318	103364318	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaggaggaccttctgcAcctgcttccccctgttagaa	7	12	8	14	0	1	1	0	0	1	1	3	3	3	3	5	2	2	3	5	2	2	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:103364318A>G	ENST00000358392.2	-	56	4505	c.4188T>C	c.(4186-4188)ggT>ggC	p.G1396G	COL11A1_ENST00000353414.4_Silent_p.G1345G|COL11A1_ENST00000512756.1_Silent_p.G1268G|COL11A1_ENST00000370096.3_Silent_p.G1384G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1384	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GACCTTCTGCACCTGCTTCCC	0.463													6	53					0	0	0	0	G	103364318	A	G	103364318	2	3	186	1	0	0	0	0	0	0	0	1	3697	146	6	5		5	COL11A1	1	103364318	Silent	SNP	A	TCGA-CR-6484-01A-11D-1870-08	17876274	103364318	145886303	8	32731											
NOTCH2	4853	broad.mit.edu	37	chr1	120462868	120462868	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacctgggccacggacattCacatctaacacatccacctc	11	8	6	16	1	2	1	1	1	1	0	4	2	3	2	4	2	1	0	4	2	1	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:120462868C>G	ENST00000256646.2	-	30	5682	c.5463G>C	c.(5461-5463)gtG>gtC	p.V1821V		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1821					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		CACGGACATTCACATCTAACA	0.587			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				4	28					0	0	0	0	G	120462868	C	G	120462868	2	3	186	1	0	0	0	0	0	0	0	1	10618	813	29	2		2	NOTCH2	1	120462868	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	17098550	120462868	128787753	9	32732											
PSMD4	5710	broad.mit.edu	37	chr1	151234661	151234661	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacaacagtgagtatatgcgGaatggagacttcttacccac	13	9	10	9	1	1	2	0	1	1	1	1	5	1	3	1	2	3	1	1	2	5	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:151234661G>A	ENST00000368884.3	+	2	131	c.51G>A	c.(49-51)cgG>cgA	p.R17R	PSMD4_ENST00000368881.4_Silent_p.R17R	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	17	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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 transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTATATGCGGAATGGAGACT	0.493													11	93					0	0	0	0	A	151234661	G	A	151234661	2	1	186	1	0	0	0	0	0	0	0	1	12779	1161	41	2		2	PSMD4	1	151234661	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	30771793	151234661	98015960	10	32733											
CELF3	11189	broad.mit.edu	37	chr1	151680372	151680372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggagacctcgctccttctCagtgtcagcaaacttcacca	9	9	8	15	2	3	1	3	0	1	1	6	2	4	1	3	1	2	2	3	1	1	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:151680372C>G	ENST00000290583.4	-	6	1319	c.526G>C	c.(526-528)Gag>Cag	p.E176Q	CELF3_ENST00000392706.3_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.E176Q|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	176					nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CGCTCCTTCTCAGTGTCAGCA	0.642													4	27					0	0	0	0	G	151680372	C	G	151680372	3	3	186	1	0	0	0	0	1	0	0	0	3246	835	29	2	899	2	CELF3	1	151680372	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	445711	151680372	97570249	11	32734											
KIAA0907	22889	broad.mit.edu	37	chr1	155893435	155893435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgtttgcaaaagattctCacaaagcttcttggcagcag	12	11	8	10	0	2	1	1	0	2	1	3	1	2	1	0	1	3	5	0	1	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:155893435C>T	ENST00000368320.3	-	8	962	c.937G>A	c.(937-939)Gag>Aag	p.E313K	KIAA0907_ENST00000368319.3_Missense_Mutation_p.E313K|KIAA0907_ENST00000368321.3_Missense_Mutation_p.E313K|KIAA0907_ENST00000482337.1_5'UTR			Q7Z7F0	K0907_HUMAN	KIAA0907	313										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			AAAAGATTCTCACAAAGCTTC	0.388													13	56					0	0	0	0	T	155893435	C	T	155893435	3	4	186	1	0	0	0	0	1	0	0	0	8250	835	29	2	935	2	KIAA0907	1	155893435	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	4213063	155893435	93357186	12	32735											
SMG5	23381	broad.mit.edu	37	chr1	156238112	156238112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagacagtttccgagtctCacacttcttcagttggtggt	8	13	11	9	1	3	1	2	0	2	1	5	3	4	1	1	3	0	2	1	3	0	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:156238112C>T	ENST00000361813.5	-	8	952	c.808G>A	c.(808-810)Gag>Aag	p.E270K	SMG5_ENST00000368267.4_Missense_Mutation_p.E270K	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	270					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTCCGAGTCTCACACTTCTTC	0.532													38	267					0	0	0	0	T	156238112	C	T	156238112	3	4	186	1	0	0	0	0	1	0	0	0	14884	835	29	2	2302	2	SMG5	1	156238112	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	344677	156238112	93012509	13	32736											
BCAN	63827	broad.mit.edu	37	chr1	156618362	156618362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctcttctccacccaggaGaactgttcctgggtgaccct	6	12	8	15	0	2	2	0	1	2	1	5	3	3	2	4	2	1	1	4	2	1	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:156618362G>C	ENST00000329117.4	+	6	1108	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	BCAN_ENST00000361588.5_Missense_Mutation_p.E258Q|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	258	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ccacCCAGGAGAACTGTTCCT	0.592													11	80					0	0	0	0	C	156618362	G	C	156618362	3	2	186	1	0	0	0	0	1	0	0	0	1349	943	33	2	790	2	BCAN	1	156618362	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	380250	156618362	92632259	14	32737											
NES	10763	broad.mit.edu	37	chr1	156641455	156641455	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggtgcttgagtttctggaGatttcagtgtttccaggttc	5	17	13	6	0	2	2	1	1	1	1	4	3	3	2	1	3	1	4	1	3	0	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:156641455G>C	ENST00000368223.3	-	4	2657	c.2525C>G	c.(2524-2526)tCt>tGt	p.S842C		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	842	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGTTTCTGGAGATTTCAGTGT	0.433													12	126					0	0	0	0	C	156641455	G	C	156641455	3	2	186	1	0	0	0	0	1	0	0	0	10407	942	33	2	2344	2	NES	1	156641455	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	23093	156641455	92609166	15	32738											
USF1	7391	broad.mit.edu	37	chr1	161011934	161011934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggattgagtggcagggtagCcactgatggcgccagttccc	7	9	15	10	1	0	2	0	2	0	0	1	3	1	3	3	4	1	3	3	4	1	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:161011934C>T	ENST00000368021.3	-	5	452	c.248G>A	c.(247-249)gGc>gAc	p.G83D	USF1_ENST00000368019.1_Missense_Mutation_p.G83D|USF1_ENST00000368020.1_Missense_Mutation_p.G83D|USF1_ENST00000435396.1_Missense_Mutation_p.G24D	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	83					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGCAGGGTAGCCACTGATGGC	0.547													7	54					0	0	0	0	T	161011934	C	T	161011934	3	4	186	1	0	0	0	0	1	0	0	0	17128	739	26	4	712	4	USF1	1	161011934	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	4370479	161011934	88238687	16	32739											
PFDN2	5202	broad.mit.edu	37	chr1	161070553	161070553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgctggcttctcatcttCtcccatgagacgaatgttgt	6	14	10	11	1	3	1	1	1	3	1	5	3	3	1	1	2	1	4	1	2	1	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:161070553C>T	ENST00000368010.3	-	4	469	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	PFDN2_ENST00000468311.1_5'UTR	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	129					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTCTCATCTTCTCCCATGAGA	0.493													11	94					0	0	0	0	T	161070553	C	T	161070553	3	4	186	1	0	0	0	0	1	0	0	0	11828	922	32	2	83	2	PFDN2	1	161070553	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	58619	161070553	88180068	17	32740											
DDR2	4921	broad.mit.edu	37	chr1	162741855	162741855	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtccagcccagtggccctGagggggtgccccactatgca	7	6	13	15	0	0	1	0	1	0	0	1	1	1	1	5	3	3	1	5	3	1	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:162741855G>C	ENST00000367922.2	+	14	1984	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q	DDR2_ENST00000367921.3_Missense_Mutation_p.E516Q	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	516					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CAGTGGCCCTGAGGGGGTGCC	0.587													3	33					0	0	0	0	C	162741855	G	C	162741855	3	2	186	1	0	0	0	0	1	0	0	0	4369	1291	45	2	1588	2	DDR2	1	162741855	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1671302	162741855	86508766	18	32741											
UCK2	7371	broad.mit.edu	37	chr1	165872469	165872469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttgagcagattttatctCagtacattacgttcgtcaag	11	15	7	8	2	3	2	2	1	2	1	5	2	3	2	0	0	3	3	0	0	4	6			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:165872469C>G	ENST00000367879.4	+	5	853	c.550C>G	c.(550-552)Cag>Gag	p.Q184E	UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	184					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GATTTTATCTCAGTACATTAC	0.408													7	124					0	0	0	0	G	165872469	C	G	165872469	3	3	186	1	0	0	0	0	1	0	0	0	17020	827	29	2	568	2	UCK2	1	165872469	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	3130614	165872469	83378152	19	32742											
FMO2	2327	broad.mit.edu	37	chr1	171154965	171154965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgagagaactgaagatattgGaggagtgtggaggttcaaag	14	9	16	2	0	1	4	1	2	0	2	1	8	1	7	0	4	1	1	0	4	4	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:171154965G>A	ENST00000441535.1	+	2	230	c.113G>A	c.(112-114)gGa>gAa	p.G38E	FMO2_ENST00000529935.1_Intron|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.G38E	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	38					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAAGATATTGGAGGAGTGTGG	0.453													14	134					0	0	0	0	A	171154965	G	A	171154965	3	1	186	1	0	0	0	0	1	0	0	0	6000	1174	41	2	115	2	FMO2	1	171154965	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	5282496	171154965	78095656	20	32743											
RC3H1	149041	broad.mit.edu	37	chr1	173951999	173951999	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacaaagcagaaccatcttCtaaggccagcagaaccaact	16	6	7	12	0	2	3	0	1	2	2	2	3	2	3	3	1	5	2	3	1	5	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:173951999C>G	ENST00000367696.2	-	5	985	c.634G>C	c.(634-636)Gaa>Caa	p.E212Q	RC3H1_ENST00000367694.2_Missense_Mutation_p.E212Q|RC3H1_ENST00000258349.4_Missense_Mutation_p.E212Q			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	212					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GAACCATCTTCTAAGGCCAGC	0.403													10	131					0	0	0	0	G	173951999	C	G	173951999	3	3	186	1	0	0	0	0	1	0	0	0	13248	922	32	2	2831	2	RC3H1	1	173951999	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	2797034	173951999	75298622	21	32744											
LAMC2	3918	broad.mit.edu	37	chr1	183209189	183209189	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcaggagattgggagtctGaacttggaagccaatgtgac	11	10	13	7	0	2	3	1	2	2	1	3	6	2	5	1	3	2	0	1	3	3	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:183209189G>A	ENST00000264144.4	+	21	3149	c.3084G>A	c.(3082-3084)ctG>ctA	p.L1028L	LAMC2_ENST00000493293.1_Silent_p.L1028L|LAMC2_ENST00000461729.1_3'UTR	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1028	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TTGGGAGTCTGAACTTGGAAG	0.493													17	122					0	0	0	0	A	183209189	G	A	183209189	2	1	186	1	0	0	0	0	0	0	0	1	8668	1277	45	2		2	LAMC2	1	183209189	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	9257190	183209189	66041432	22	32745											
HMCN1	83872	broad.mit.edu	37	chr1	186086731	186086731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagactgcttcccaggggaGatggctatagaattctgtcc	10	11	11	9	0	1	3	0	0	1	3	3	4	3	3	2	3	1	2	2	3	4	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:186086731G>C	ENST00000271588.4	+	77	12053	c.11824G>C	c.(11824-11826)Gat>Cat	p.D3942H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D3942H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3942	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCCAGGGGAGATGGCTATAG	0.423													7	86					0	0	0	0	C	186086731	G	C	186086731	3	2	186	1	0	0	0	0	1	0	0	0	7270	942	33	2	12130	2	HMCN1	1	186086731	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	2877542	186086731	63163890	23	32746											
KIF14	9928	broad.mit.edu	37	chr1	200522745	200522745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggagagacttagctagaGattctagttcctggtggaca	12	10	13	6	0	1	3	0	0	1	3	2	7	2	5	1	3	1	2	1	3	3	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:200522745G>C	ENST00000367350.4	-	30	5156	c.4718C>G	c.(4717-4719)tCt>tGt	p.S1573C		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1573	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTTAGCTAGAGATTCTAGTTC	0.398													9	48					0	0	0	0	C	200522745	G	C	200522745	3	2	186	1	0	0	0	0	1	0	0	0	8327	942	33	2	232	2	KIF14	1	200522745	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	14436014	200522745	48727876	24	32747											
CSRP1	1465	broad.mit.edu	37	chr1	201465408	201465408	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgacacaccccacatttCttgcctcctccccagttcgg	6	12	5	18	1	2	1	0	1	2	0	5	1	4	1	6	1	1	1	6	1	0	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:201465408C>G	ENST00000367306.1	-	3	387	c.24G>C	c.(22-24)aaG>aaC	p.K8N	CSRP1_ENST00000340006.2_Missense_Mutation_p.K8N|CSRP1_ENST00000526723.1_Missense_Mutation_p.K8N|CSRP1_ENST00000531916.1_Missense_Mutation_p.K8N|CSRP1_ENST00000533432.1_Missense_Mutation_p.K8N|CSRP1_ENST00000458271.2_5'UTR|CSRP1_ENST00000532460.1_Missense_Mutation_p.K8N			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	8						nucleus	zinc ion binding			large_intestine(3)|lung(2)|ovary(1)	6						CCCCACATTTCTTGCCTCCTC	0.483													20	116					0	0	0	0	G	201465408	C	G	201465408	3	3	186	1	0	0	0	0	1	0	0	0	3998	912	32	2	593	2	CSRP1	1	201465408	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	942663	201465408	47785213	25	32748											
ATP2B4	493	broad.mit.edu	37	chr1	203708719	203708719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttccctccacgaaagcattCagaaaccctacaaccaaaag	16	6	5	14	1	1	1	1	0	0	1	3	2	3	1	4	0	4	2	4	0	6	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:203708719C>G	ENST00000357681.5	+	21	4478	c.3355C>G	c.(3355-3357)Cag>Gag	p.Q1119E	ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000391954.2_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1155					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CGAAAGCATTCAGAAACCCTA	0.488													16	101					0	0	0	0	G	203708719	C	G	203708719	3	3	186	1	0	0	0	0	1	0	0	0	1146	827	29	2	3615	2	ATP2B4	1	203708719	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	2243311	203708719	45541902	26	32749											
RPS6KC1	26750	broad.mit.edu	37	chr1	213414696	213414696	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattgtatagtctaaaatCagaacctttgaaaccattct	17	13	4	7	0	3	2	1	1	2	1	3	2	3	2	2	0	2	1	2	0	8	6			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:213414696C>A	ENST00000366960.3	+	11	2027	c.1877C>A	c.(1876-1878)tCa>tAa	p.S626*	RPS6KC1_ENST00000543354.1_Nonsense_Mutation_p.S329*|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.S614*|RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.S414*	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	626					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGTCTAAAATCAGAACCTTTG	0.388													4	42					2.56e-06	2.76539e-06	1	0	A	213414696	C	A	213414696	4	1	186	1	0	0	0	0	0	1	0	0	13743	838	29	2	1919	2	RPS6KC1	1	213414696	Nonsense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	9705977	213414696	35835925	27	32750											
MIA3	375056	broad.mit.edu	37	chr1	222803432	222803432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgctacaagaaatgtcatCaaaactgaagtcagcgcagc	15	8	8	10	1	3	2	3	1	0	1	3	2	3	2	0	0	5	2	0	0	6	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:222803432C>T	ENST00000344922.5	+	4	2895	c.2870C>T	c.(2869-2871)tCa>tTa	p.S957L	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.S957L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	957					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAAATGTCATCAAAACTGAAG	0.428													8	58					0	0	0	0	T	222803432	C	T	222803432	3	4	186	1	0	0	0	0	1	0	0	0	9634	838	29	2	2884	2	MIA3	1	222803432	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	9388736	222803432	26447189	28	32751											
ZP4	57829	broad.mit.edu	37	chr1	238045807	238045807	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccaaggattaaggtcccaGaaaggcctgccacccacaga	13	5	9	14	0	0	2	0	0	0	2	2	3	2	3	5	3	1	0	5	3	3	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:238045807G>C	ENST00000366570.4	-	12	1696	c.1538C>G	c.(1537-1539)tCt>tGt	p.S513C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	513					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.S513fs*4(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TAAGGTCCCAGAAAGGCCTGC	0.453													15	75					0	0	0	0	C	238045807	G	C	238045807	3	2	186	1	0	0	0	0	1	0	0	0	18311	942	33	2	88	2	ZP4	1	238045807	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	15242375	238045807	11204814	29	32752											
OR2T12	127064	broad.mit.edu	37	chr1	248458752	248458752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtgaatcaggagaatCatgagggcattgctaaacag	14	8	11	8	0	2	3	2	2	0	1	3	4	3	3	1	2	2	2	1	2	4	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:248458752C>A	ENST00000317996.1	-	1	128	c.129G>T	c.(127-129)atG>atT	p.M43I		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TCAGGAGAATCATGAGGGCAT	0.522													21	83					4.16121e-05	4.40668e-05	1	0	A	248458752	C	A	248458752	3	1	186	1	0	0	0	0	1	0	0	0	11090	826	29	2	836	2	OR2T12	1	248458752	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	10412945	248458752	791869	30	32753											
OR2M7	391196	broad.mit.edu	37	chr1	248486993	248486993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctggtcacttccttgttgCggaggctataaatgagagga	9	12	12	8	1	2	1	1	1	1	1	3	4	3	3	1	4	1	2	1	4	3	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:248486993C>T	ENST00000317965.2	-	1	906	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCTTGTTGCGGAGGCTATA	0.428													16	43					0	0	0	0	T	248486993	C	T	248486993	3	4	186	1	0	0	0	0	1	0	0	0	11085	768	27	1	63	1	OR2M7	1	248486993	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	28241	248486993	763628	31	32754											
PDIA6	10130	broad.mit.edu	37	chr2	10931955	10931955	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaccaaggagcatagaactCaaccatccaaacatcttcac	17	6	4	14	0	3	1	2	0	1	1	4	2	4	2	3	1	4	1	3	1	5	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:10931955C>G	ENST00000404371.2	-	8	1043	c.706G>C	c.(706-708)Gag>Cag	p.E236Q	PDIA6_ENST00000381611.4_Missense_Mutation_p.E189Q|PDIA6_ENST00000540494.1_Missense_Mutation_p.E181Q|PDIA6_ENST00000272227.3_Missense_Mutation_p.E184Q|PDIA6_ENST00000404824.2_Missense_Mutation_p.E232Q			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	184	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GCATAGAACTCAACCATCCAA	0.398													8	45					0	0	0	0	G	10931955	C	G	10931955	3	3	186	1	0	0	0	0	1	0	0	0	11743	835	29	2	804	2	PDIA6	2	10931955	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08		10931955	232267418	32	32755											
ROCK2	9475	broad.mit.edu	37	chr2	11364578	11364578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtgaatccgcataaaatgGagtatcccctaaaatttcaa	17	10	6	8	1	1	1	1	1	0	0	3	2	3	2	3	1	0	2	3	1	8	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:11364578G>T	ENST00000315872.6	-	7	1325	c.877C>A	c.(877-879)Cca>Aca	p.P293T	ROCK2_ENST00000401753.1_Missense_Mutation_p.P50T	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	293	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GCATAAAATGGAGTATCCCCT	0.318													11	98					3.07112e-06	3.29861e-06	1	0	T	11364578	G	T	11364578	3	4	186	1	0	0	0	0	1	0	0	0	13603	1174	41	2	3397	2	ROCK2	2	11364578	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	432623	11364578	231834795	33	32756											
ZNF513	130557	broad.mit.edu	37	chr2	27600989	27600989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactggggccctggggccccCcactggcaccccctccagcc	4	4	11	22	0	0	0	0	0	0	0	1	0	1	0	8	5	1	1	8	5	0	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:27600989C>T	ENST00000323703.6	-	4	1247	c.1049G>A	c.(1048-1050)gGg>gAg	p.G350E	ZNF513_ENST00000407879.1_Missense_Mutation_p.G288E|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	350					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGGCCCCCCACTGGCACC	0.652													10	69					0	0	0	0	T	27600989	C	T	27600989	3	4	186	1	0	0	0	0	1	0	0	0	18053	623	22	4	580	4	ZNF513	2	27600989	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	16236411	27600989	215598384	34	32757											
IFT172	26160	broad.mit.edu	37	chr2	27695135	27695135	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacgaagtttccggtccctGaagaggagcttgtgtccagt	9	10	12	10	2	0	2	0	1	0	1	3	4	3	3	3	2	1	2	3	2	2	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:27695135G>A	ENST00000260570.3	-	15	1609	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	IFT172_ENST00000359466.6_Silent_p.F502F|IFT172_ENST00000416524.2_Silent_p.F481F	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	502					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCCGGTCCCTGAAGAGGAGCT	0.547													14	148					0	0	0	0	A	27695135	G	A	27695135	2	1	186	1	0	0	0	0	0	0	0	1	7610	1281	45	2		2	IFT172	2	27695135	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	94146	27695135	215504238	35	32758											
GALNT14	79623	broad.mit.edu	37	chr2	31133797	31133797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatgtcccagtgctggctCatgagtgaggactcacatgg	9	9	12	11	0	2	2	2	2	0	0	3	3	3	3	2	3	1	2	2	3	0	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:31133797C>T	ENST00000349752.5	-	15	2268	c.1629G>A	c.(1627-1629)atG>atA	p.M543I	GALNT14_ENST00000356174.3_Missense_Mutation_p.M510I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Missense_Mutation_p.M548I|GALNT14_ENST00000420311.2_Missense_Mutation_p.M508I|GALNT14_ENST00000406653.1_Missense_Mutation_p.M523I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	543	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGTGCTGGCTCATGAGTGAGG	0.567													8	67					0	0	0	0	T	31133797	C	T	31133797	3	4	186	1	0	0	0	0	1	0	0	0	6261	826	29	2	33	2	GALNT14	2	31133797	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	3438662	31133797	212065576	36	32759											
SPAST	6683	broad.mit.edu	37	chr2	32289083	32289083	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacccgctgtttgtaggcttCgcgctgctgcgtttggtcgc	2	14	13	12	5	0	0	0	0	0	0	2	0	0	0	1	2	3	7	1	2	2	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:32289083C>T	ENST00000315285.3	+	1	308	c.183C>T	c.(181-183)ttC>ttT	p.F61F	SPAST_ENST00000345662.1_Silent_p.F61F	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	61	Required for interaction with ATL1.|Required for interaction with RTN1.|Required for interaction with SSNA1 and microtubules.|Required for midbody localization.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	p.F61L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTGTAGGCTTCGCGCTGCTGC	0.697													4	46					0	0	0	0	T	32289083	C	T	32289083	2	4	186	1	0	0	0	0	0	0	0	1	15087	883	31	1		1	SPAST	2	32289083	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1155286	32289083	210910290	37	32760											
ATL2	64225	broad.mit.edu	37	chr2	38537571	38537571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttacattctgaagctcttCatgttgattttgttttacct	7	20	5	9	0	3	2	1	2	2	0	3	2	3	2	2	0	3	3	2	0	3	8			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:38537571C>T	ENST00000378954.4	-	8	824	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	ATL2_ENST00000539122.1_Missense_Mutation_p.E104K|ATL2_ENST00000332337.4_Missense_Mutation_p.E257K|ATL2_ENST00000406122.1_Missense_Mutation_p.E104K|ATL2_ENST00000402054.1_Missense_Mutation_p.E104K|ATL2_ENST00000419554.2_Missense_Mutation_p.E275K|ATL2_ENST00000546051.1_Missense_Mutation_p.E104K|ATL2_ENST00000452935.2_Missense_Mutation_p.E257K	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	275					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TGAAGCTCTTCATGTTGATTT	0.378													10	57					0	0	0	0	T	38537571	C	T	38537571	3	4	186	1	0	0	0	0	1	0	0	0	1111	835	29	2	1064	2	ATL2	2	38537571	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	6248488	38537571	204661802	38	32761											
PLEKHH2	130271	broad.mit.edu	37	chr2	43986079	43986079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccagatggatggccctcCggggacacagtgctgctgac	9	6	13	13	1	0	2	0	1	0	1	1	4	1	4	3	4	3	2	3	4	1	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:43986079C>T	ENST00000282406.4	+	27	4092	c.3982C>T	c.(3982-3984)Cgg>Tgg	p.R1328W		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1328	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GATGGCCCTCCGGGGACACAG	0.423													3	29					0	0	0	0	T	43986079	C	T	43986079	3	4	186	1	0	0	0	0	1	0	0	0	12149	643	23	1	4084	1	PLEKHH2	2	43986079	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	5448508	43986079	199213294	39	32762											
MDH1	4190	broad.mit.edu	37	chr2	63831977	63831977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttatgaagctctgaaagatGacagctggctcaagggagaa	14	9	12	6	0	2	5	1	3	1	2	2	6	2	5	0	2	2	3	0	2	5	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:63831977G>A	ENST00000233114.8	+	6	1081	c.646G>A	c.(646-648)Gac>Aac	p.D216N	MDH1_ENST00000544381.1_Missense_Mutation_p.D127N|MDH1_ENST00000539945.1_Missense_Mutation_p.D234N|MDH1_ENST00000409908.1_Missense_Mutation_p.D51N|MDH1_ENST00000394423.1_Missense_Mutation_p.D216N|MDH1_ENST00000409476.1_Missense_Mutation_p.D92N	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	216					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	TCTGAAAGATGACAGCTGGCT	0.433													8	46					0	0	0	0	A	63831977	G	A	63831977	3	1	186	1	0	0	0	0	1	0	0	0	9477	1290	45	2	668	2	MDH1	2	63831977	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	19845898	63831977	179367396	40	32763											
ATP6V1B1	525	broad.mit.edu	37	chr2	71189955	71189955	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcgctgaccactgctgaattCcttgcctaccagtgtgagaa	9	10	10	12	1	0	3	0	3	0	1	1	4	1	3	4	0	3	2	4	0	3	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:71189955C>T	ENST00000234396.4	+	9	907	c.834C>T	c.(832-834)ttC>ttT	p.F278F	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Silent_p.F278F	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	278					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CTGCTGAATTCCTTGCCTACC	0.582													11	69					0	0	0	0	T	71189955	C	T	71189955	2	4	186	1	0	0	0	0	0	0	0	1	1182	854	30	2		2	ATP6V1B1	2	71189955	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	7357978	71189955	172009418	41	32764											
TBC1D8	11138	broad.mit.edu	37	chr2	101655014	101655014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcctccaccaggctgtctCggtcccggagctcaatgaac	7	7	11	16	3	2	1	1	1	1	0	5	2	4	2	4	3	2	2	4	3	2	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:101655014C>T	ENST00000409318.1	-	7	1314	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	TBC1D8_ENST00000376840.4_Missense_Mutation_p.R380Q	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	380					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CAGGCTGTCTCGGTCCCGGAG	0.587													20	135					0	0	0	0	T	101655014	C	T	101655014	3	4	186	1	0	0	0	0	1	0	0	0	15719	884	31	1	2339	1	TBC1D8	2	101655014	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	30465059	101655014	141544359	42	32765											
SLC5A7	60482	broad.mit.edu	37	chr2	108626898	108626898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggcaggttatgtttctGgcctcttcctgagaataact	7	14	10	10	1	2	1	0	1	2	1	3	2	3	1	3	3	1	3	3	3	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:108626898G>T	ENST00000264047.2	+	9	1600	c.1324G>T	c.(1324-1326)Ggc>Tgc	p.G442C	SLC5A7_ENST00000409059.1_Missense_Mutation_p.G442C|SLC5A7_ENST00000540517.1_Missense_Mutation_p.G337C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	442					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTATGTTTCTGGCCTCTTCCT	0.453													8	67					0.00307968	0.00318093	1	0	T	108626898	G	T	108626898	3	4	186	1	0	0	0	0	1	0	0	0	14758	1348	47	4	1354	4	SLC5A7	2	108626898	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	6971884	108626898	134572475	43	32766											
ZC3H8	84524	broad.mit.edu	37	chr2	112994207	112994207	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagggccaggccattttcGcttcattttcttctgtttgc	4	17	8	12	1	3	0	1	0	2	0	5	0	4	0	3	2	1	2	3	2	0	7			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:112994207G>A	ENST00000409573.1	-	4	565	c.436C>T	c.(436-438)Cga>Tga	p.R146*	ZC3H8_ENST00000272570.5_Nonsense_Mutation_p.R146*			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	146					apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						GGCCATTTTCGCTTCATTTTC	0.353													11	66					0	0	0	0	A	112994207	G	A	112994207	4	1	186	1	0	0	0	0	0	1	0	0	17669	1095	38	1	459	1	ZC3H8	2	112994207	Nonsense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	4367309	112994207	130205166	44	32767											
PSD4	23550	broad.mit.edu	37	chr2	113950670	113950670	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaggagtacctgtccttcttCcagtttggaggccagagtct	7	12	12	10	0	2	1	0	0	2	1	4	4	4	3	4	3	1	2	4	3	1	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:113950670C>G	ENST00000245796.6	+	7	2079	c.1884C>G	c.(1882-1884)ttC>ttG	p.F628L	PSD4_ENST00000441564.2_Missense_Mutation_p.F600L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	628	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTCCTTCTTCCAGTTTGGAG	0.622													4	68					0	0	0	0	G	113950670	C	G	113950670	3	3	186	1	0	0	0	0	1	0	0	0	12728	854	30	2	1906	2	PSD4	2	113950670	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	956463	113950670	129248703	45	32768											
R3HDM1	23518	broad.mit.edu	37	chr2	136389447	136389447	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaggtctccacgtaaaaaaTtccccccaatgacatcttac	13	10	4	14	1	2	1	0	1	2	0	4	1	3	1	4	1	1	1	4	1	6	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:136389447T>A	ENST00000264160.4	+	9	944	c.574T>A	c.(574-576)Ttc>Atc	p.F192I	R3HDM1_ENST00000329971.3_Missense_Mutation_p.F148I|R3HDM1_ENST00000410054.1_Missense_Mutation_p.F136I|R3HDM1_ENST00000409478.1_Missense_Mutation_p.F148I|R3HDM1_ENST00000409606.1_Missense_Mutation_p.F192I	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	192	R3H.						nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACGTAAAAAATTCCCCCCAAT	0.398													21	98					0	0	0	0	A	136389447	T	A	136389447	3	1	186	1	0	0	0	0	1	0	0	0	12969	1493	52	5	600	5	R3HDM1	2	136389447	Missense_Mutation	SNP	T	TCGA-CR-6484-01A-11D-1870-08	22438777	136389447	106809926	46	32769											
BAZ2B	29994	broad.mit.edu	37	chr2	160194206	160194206	+	Silent	SNP	G	G	A																															aattctccatcatgctccttGcacaatttagtaaatgattt																										TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:160194206G>A	ENST00000392783.2	-	32	6027	c.5532C>T	c.(5530-5532)tgC>tgT	p.C1844C	BAZ2B_ENST00000392782.1_Silent_p.C1808C|BAZ2B_ENST00000355831.2_Silent_p.C1810C|BAZ2B_ENST00000343439.5_Silent_p.C1744C	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CATGCTCCTTGCACAATTTAG	0.428													14	80					0	0	0	0	A	160194206	G	A	160194206	2	1	186	1	0	0	0	0	0	0	0	1	1336	1311	46	4		4	BAZ2B	2	160194206	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	23804759	160194206	83005167	47	32770	249	2									
BAZ2B	29994	broad.mit.edu	37	chr2	160194207	160194207	+	Missense_Mutation	SNP	C	C	A																															attctccatcatgctccttgCacaatttagtaaatgattta																										TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:160194207C>A	ENST00000392783.2	-	32	6026	c.5531G>T	c.(5530-5532)tGc>tTc	p.C1844F	BAZ2B_ENST00000392782.1_Missense_Mutation_p.C1808F|BAZ2B_ENST00000355831.2_Missense_Mutation_p.C1810F|BAZ2B_ENST00000343439.5_Missense_Mutation_p.C1744F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATGCTCCTTGCACAATTTAGT	0.423													14	76					9.31168e-06	9.91668e-06	1	0	A	160194207	C	A	160194207	3	1	186	1	0	0	0	0	1	0	0	0	1336	710	25	4	999	4	BAZ2B	2	160194207	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1	160194207	83005166	48	32771	249	2									
IFIH1	64135	broad.mit.edu	37	chr2	163163360	163163360	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaacttgtgataaattctCaatctctgtgaataacagta	15	14	5	7	0	3	2	2	2	2	0	5	2	3	2	0	0	2	1	0	0	7	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:163163360C>G	ENST00000263642.2	-	3	1023	c.628G>C	c.(628-630)Gag>Cag	p.E210Q		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	210					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GATAAATTCTCAATCTCTGTG	0.368													3	38					0	0	0	0	G	163163360	C	G	163163360	3	3	186	1	0	0	0	0	1	0	0	0	7573	835	29	2	2505	2	IFIH1	2	163163360	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	2969153	163163360	80036013	49	32772											
TTN	7273	broad.mit.edu	37	chr2	179417226	179417226	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgtgccccagggatatctGacaggtcaacttcaggtgta	9	11	11	10	0	3	1	2	1	1	0	3	2	3	2	2	3	2	1	2	3	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:179417226G>C	ENST00000589042.1	-	335	90625	c.90401C>G	c.(90400-90402)tCa>tGa	p.S30134*	TTN_ENST00000342992.6_Nonsense_Mutation_p.S27566*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.S28493*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S21069*|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.S21261*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.S21194*|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28493	Fibronectin type-III 119.						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)			AGGGATATCTGACAGGTCAAC	0.423													6	35					0	0	0	0	C	179417226	G	C	179417226	4	2	186	1	0	0	0	0	0	1	0	0	16831	1294	45	2	17690	2	TTN	2	179417226	Nonsense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	16253866	179417226	63782147	50	32773											
MYO1B	4430	broad.mit.edu	37	chr2	192225422	192225422	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaacttccatgtgttctatCagctgctctctggtgcctct	6	15	8	12	0	4	0	1	0	3	0	6	1	5	0	2	1	4	3	2	1	2	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:192225422C>T	ENST00000392318.3	+	8	875	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	MYO1B_ENST00000339514.4_Nonsense_Mutation_p.Q210*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.Q210*|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.Q210*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	210	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGTGTTCTATCAGCTGCTCTC	0.408													20	140					0	0	0	0	T	192225422	C	T	192225422	4	4	186	1	0	0	0	0	0	1	0	0	10139	827	29	2	654	2	MYO1B	2	192225422	Nonsense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	12808196	192225422	50973951	51	32774											
PAX3	5077	broad.mit.edu	37	chr2	223066840	223066840	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggttccagacccccggtgaGaggggagagcgcgtaatcag	10	5	16	10	3	1	3	1	1	0	3	2	5	2	3	3	4	1	2	3	4	1	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:223066840G>C	ENST00000350526.4	-	8	1379	c.1243C>G	c.(1243-1245)Ctc>Gtc	p.L415V	PAX3_ENST00000344493.4_Intron|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_Missense_Mutation_p.L415V|PAX3_ENST00000392069.2_Missense_Mutation_p.L415V|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000409551.3_Missense_Mutation_p.L414V	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	415					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCCGGTGAGAGGGGAGAGC	0.547			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						5	21					0	0	0	0	C	223066840	G	C	223066840	3	2	186	1	0	0	0	0	1	0	0	0	11551	942	33	2	314	2	PAX3	2	223066840	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	30841418	223066840	20132533	52	32775											
WDFY1	57590	broad.mit.edu	37	chr2	224809972	224809972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagcaccgggcggctgctCtgcggcctggagtggatttc	5	8	16	12	3	1	0	0	0	1	0	2	2	1	2	2	5	4	4	2	5	0	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:224809972C>G	ENST00000233055.4	-	1	132	c.30G>C	c.(28-30)caG>caC	p.Q10H		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	10						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GGCGGCTGCTCTGCGGCCTGG	0.726													4	27					0	0	0	0	G	224809972	C	G	224809972	3	3	186	1	0	0	0	0	1	0	0	0	17364	912	32	2	1250	2	WDFY1	2	224809972	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1743132	224809972	18389401	53	32776											
ARMC9	80210	broad.mit.edu	37	chr2	232146798	232146798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtatgtgaatggagctctGtacagcatcctttctgttcc	7	14	9	11	1	2	1	0	1	2	0	4	2	4	2	3	1	3	5	3	1	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:232146798G>A	ENST00000349938.4	+	17	1772	c.1578G>A	c.(1576-1578)ctG>ctA	p.L526L	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	526							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ATGGAGCTCTGTACAGCATCC	0.428													16	143					0	0	0	0	A	232146798	G	A	232146798	2	1	186	1	0	0	0	0	0	0	0	1	962	1364	48	4		4	ARMC9	2	232146798	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	7336826	232146798	11052575	54	32777											
CNTN4	152330	broad.mit.edu	37	chr3	2908579	2908579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtggttaccaataccGtgacaaaccacaaggtcctg	11	9	9	12	1	0	1	0	1	0	0	1	1	1	1	5	2	3	1	5	2	5	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:2908579G>A	ENST00000397461.1	+	7	982	c.598G>A	c.(598-600)Gtg>Atg	p.V200M	CNTN4_ENST00000427331.1_Missense_Mutation_p.V200M|CNTN4_ENST00000418658.1_Missense_Mutation_p.V200M|CNTN4_ENST00000358480.3_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	200	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TACCAATACCGTGACAAACCA	0.398													8	54					0	0	0	0	A	2908579	G	A	2908579	3	1	186	1	0	0	0	0	1	0	0	0	3673	1145	40	1	616	1	CNTN4	3	2908579	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08		2908579	195113851	55	32778											
WDR48	57599	broad.mit.edu	37	chr3	39104562	39104562	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcctatgttattcgagatGaagtggagaagtacaaccga	13	12	10	6	2	0	3	0	1	0	2	2	6	1	3	2	1	2	2	2	1	6	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:39104562G>C	ENST00000302313.5	+	2	98	c.70G>C	c.(70-72)Gaa>Caa	p.E24Q	WDR48_ENST00000544962.1_Intron|WDR48_ENST00000396258.3_5'UTR|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	24					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TATTCGAGATGAAGTGGAGAA	0.388													9	74					0	0	0	0	C	39104562	G	C	39104562	3	2	186	1	0	0	0	0	1	0	0	0	17397	1291	45	2	76	2	WDR48	3	39104562	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	36195983	39104562	158917868	56	32779											
CCDC36	339834	broad.mit.edu	37	chr3	49293924	49293924	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagaatgatgatctccaaGaagaggctgcactgccagca	15	6	10	10	0	1	5	0	2	1	3	2	5	1	5	2	1	3	3	2	1	4	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:49293924G>C	ENST00000438782.1	+	8	1230	c.994G>C	c.(994-996)Gaa>Caa	p.E332Q	CCDC36_ENST00000296449.5_Missense_Mutation_p.E332Q|CCDC36_ENST00000452691.2_Missense_Mutation_p.E332Q			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	332										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TGATCTCCAAGAAGAGGCTGC	0.512													19	82					0	0	0	0	C	49293924	G	C	49293924	3	2	186	1	0	0	0	0	1	0	0	0	2834	943	33	2	1020	2	CCDC36	3	49293924	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	10189362	49293924	148728506	57	32780											
QTRTD1	79691	broad.mit.edu	37	chr3	113798799	113798799	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaggtgctcgagtgtattGaaagaggagtggacttattt	11	13	14	3	1	0	3	0	2	0	1	1	6	0	5	0	3	1	2	0	3	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:113798799G>C	ENST00000281273.4	+	8	1050	c.793G>C	c.(793-795)Gaa>Caa	p.E265Q	QTRTD1_ENST00000479882.1_Missense_Mutation_p.E142Q|QTRTD1_ENST00000493014.1_Missense_Mutation_p.E159Q|QTRTD1_ENST00000485050.1_Missense_Mutation_p.E277Q	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	265					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CGAGTGTATTGAAAGAGGAGT	0.433													21	155					0	0	0	0	C	113798799	G	C	113798799	3	2	186	1	0	0	0	0	1	0	0	0	12968	1291	45	2	815	2	QTRTD1	3	113798799	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	64504875	113798799	84223631	58	32781											
CCDC58	131076	broad.mit.edu	37	chr3	122090639	122090639	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaattgtcctcatcaccttGagtaattcctatatgtattt	10	18	4	9	0	3	1	3	1	0	0	5	1	5	1	3	0	0	2	3	0	5	8			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:122090639G>C	ENST00000291458.5	-	2	66	c.60C>G	c.(58-60)ctC>ctG	p.L20L	CCDC58_ENST00000479899.1_Silent_p.L6L|CCDC58_ENST00000497726.1_Intron	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	20										large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		TCATCACCTTGAGTAATTCCT	0.318													8	63					0	0	0	0	C	122090639	G	C	122090639	2	2	186	1	0	0	0	0	0	0	0	1	2855	1277	45	2		2	CCDC58	3	122090639	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	8291840	122090639	75931791	59	32782											
PAQR9	344838	broad.mit.edu	37	chr3	142681168	142681168	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtgcggcaggcggcgcctgGaggaactggcgcaggccctc	5	4	19	13	4	0	0	0	0	0	0	1	2	0	2	2	8	2	2	2	8	1	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:142681168G>C	ENST00000340634.3	-	1	1010	c.1011C>G	c.(1009-1011)ctC>ctG	p.L337L		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	337						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GCGGCGCCTGGAGGAACTGGC	0.582													17	123					0	0	0	0	C	142681168	G	C	142681168	2	2	186	1	0	0	0	0	0	0	0	1	11513	1161	41	2		2	PAQR9	3	142681168	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	20590529	142681168	55341262	60	32783											
PLSCR5	389158	broad.mit.edu	37	chr3	146307603	146307603	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcattaatggttttcaccTttagaaagaaaataaggagt	15	15	7	4	0	2	2	2	0	0	2	2	3	2	3	1	2	0	1	1	2	6	7			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:146307603T>A	ENST00000443512.1	-	6	1619		c.e6-2		PLSCR5_ENST00000492200.1_Splice_Site|PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000482567.1_Splice_Site	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						GGTTTTCACCTTTAGAAAGAA	0.299													4	110					0	0	0	0	A	146307603	T	A	146307603	5	1	186	1	0	0	0	0	0	0	1	0	12185	1623	56	5	209	5	PLSCR5	3	146307603	Splice_Site	SNP	T	TCGA-CR-6484-01A-11D-1870-08	3626435	146307603	51714827	61	32784											
TM4SF18	116441	broad.mit.edu	37	chr3	149039271	149039271	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattttgtccttattcaaatGattccaggctataggaaaaa	14	14	6	7	0	1	1	1	1	0	0	3	2	3	2	2	2	0	1	2	2	6	7			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:149039271G>A	ENST00000296059.2	-	6	865	c.600C>T	c.(598-600)atC>atT	p.I200I	RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Silent_p.I200I	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	200						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTATTCAAATGATTCCAGGCT	0.303													13	109					0	0	0	0	A	149039271	G	A	149039271	2	1	186	1	0	0	0	0	0	0	0	1	16061	1280	45	2		2	TM4SF18	3	149039271	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	2731668	149039271	48983159	62	32785											
PTX3	5806	broad.mit.edu	37	chr3	157160249	157160249	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttgagtcttttagtgcCtgcatttgggtcaaagccac	8	13	11	9	0	2	1	1	1	1	0	2	1	2	1	2	2	3	2	2	2	2	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:157160249C>T	ENST00000295927.3	+	3	772	c.627C>T	c.(625-627)gcC>gcT	p.A209A	VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	209	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTTTAGTGCCTGCATTTGGG	0.423													14	87					0	0	0	0	T	157160249	C	T	157160249	2	4	186	1	0	0	0	0	0	0	0	1	12904	668	24	4		4	PTX3	3	157160249	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	8120978	157160249	40862181	63	32786											
FAM43A	131583	broad.mit.edu	37	chr3	194408636	194408636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcaacttattagcgacctgGgcgagctcagcttcggcaac	9	8	11	13	4	1	0	1	0	0	0	2	2	1	0	1	2	5	4	1	2	4	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:194408636G>T	ENST00000329759.4	+	1	2015	c.1081G>T	c.(1081-1083)Ggc>Tgc	p.G361C		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	361										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		TAGCGACCTGGGCGAGCTCAG	0.711													4	15					0.00909568	0.00934352	1	0	T	194408636	G	T	194408636	3	4	186	1	0	0	0	0	1	0	0	0	5609	1232	43	4	1083	4	FAM43A	3	194408636	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	37248387	194408636	3613794	64	32787											
ZCCHC4	29063	broad.mit.edu	37	chr4	25351204	25351204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccgtttggtggcttggttGaacctctggctattacattc	5	16	10	10	1	1	1	0	1	1	0	3	1	2	1	2	4	2	4	2	4	3	6			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr4:25351204G>C	ENST00000302874.4	+	7	874	c.850G>C	c.(850-852)Gaa>Caa	p.E284Q	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	284							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TGGCTTGGTTGAACCTCTGGC	0.378													28	152					0	0	0	0	C	25351204	G	C	25351204	3	2	186	1	0	0	0	0	1	0	0	0	17685	1291	45	2	876	2	ZCCHC4	4	25351204	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08		25351204	165803072	65	32788											
RHOH	399	broad.mit.edu	37	chr4	40245288	40245288	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataactcattcctgaacttGaagaacaagtggattggtga	14	11	9	7	0	1	4	1	3	0	1	2	5	2	5	1	2	3	0	1	2	5	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr4:40245288G>A	ENST00000381799.4	+	3	1006	c.282G>A	c.(280-282)ttG>ttA	p.L94L	RHOH_ENST00000505618.1_Silent_p.L94L	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	94					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TCCTGAACTTGAAGAACAAGT	0.572													14	32					0	0	0	0	A	40245288	G	A	40245288	2	1	186	1	0	0	0	0	0	0	0	1	13423	1281	45	2		2	RHOH	4	40245288	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	14894084	40245288	150908988	66	32789											
LIMCH1	22998	broad.mit.edu	37	chr4	41648692	41648692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatcctccttcctgaatgacCccaatcccatgaaatacctg	11	11	4	15	0	0	3	0	3	0	0	4	3	4	3	7	0	1	0	7	0	5	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr4:41648692C>T	ENST00000313860.7	+	12	1501	c.1447C>T	c.(1447-1449)Ccc>Tcc	p.P483S	LIMCH1_ENST00000509277.1_Missense_Mutation_p.P317S|LIMCH1_ENST00000512820.1_Missense_Mutation_p.P471S|LIMCH1_ENST00000512632.1_Missense_Mutation_p.P483S|LIMCH1_ENST00000503057.1_Missense_Mutation_p.P868S|LIMCH1_ENST00000381753.4_Missense_Mutation_p.P317S|LIMCH1_ENST00000512946.1_Missense_Mutation_p.P483S|LIMCH1_ENST00000396595.3_Missense_Mutation_p.P329S|LIMCH1_ENST00000508501.1_Missense_Mutation_p.P483S|LIMCH1_ENST00000513024.1_Missense_Mutation_p.P312S|LIMCH1_ENST00000514096.1_Missense_Mutation_p.P324S|LIMCH1_ENST00000511496.1_Missense_Mutation_p.P324S	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	483					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCTGAATGACCCCAATCCCAT	0.488													33	320					0	0	0	0	T	41648692	C	T	41648692	3	4	186	1	0	0	0	0	1	0	0	0	8851	623	22	4	1521	4	LIMCH1	4	41648692	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1403404	41648692	149505584	67	32790											
ANKRD50	57182	broad.mit.edu	37	chr4	125592795	125592795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcattagccaataatgttCtcccatttgaatcacactga	13	12	5	11	0	2	2	1	2	1	0	3	2	2	2	2	0	2	2	2	0	4	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr4:125592795C>T	ENST00000504087.1	-	4	2674	c.1637G>A	c.(1636-1638)aGa>aAa	p.R546K	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R367K	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	546										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CAATAATGTTCTCCCATTTGA	0.398													6	64					0	0	0	0	T	125592795	C	T	125592795	3	4	186	1	0	0	0	0	1	0	0	0	676	913	32	2	2656	2	ANKRD50	4	125592795	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	83944103	125592795	65561481	68	32791											
SPEF2	79925	broad.mit.edu	37	chr5	35806816	35806816	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaactttgcagacctcctCaactgatgcaggtccagctg	9	12	8	12	0	1	2	1	1	0	1	3	2	3	2	3	1	5	3	3	1	2	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:35806816C>G	ENST00000440995.2	+	35	5003	c.5003C>G	c.(5002-5004)tCa>tGa	p.S1668*	SPEF2_ENST00000303129.4_Nonsense_Mutation_p.S470*|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.S1673*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1673					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGACCTCCTCAACTGATGCA	0.388													5	29					0	0	0	0	G	35806816	C	G	35806816	4	3	186	1	0	0	0	0	0	1	0	0	15125	838	29	2	5177	2	SPEF2	5	35806816	Nonsense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08		35806816	145108444	69	32792											
DHX29	54505	broad.mit.edu	37	chr5	54591224	54591224	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccttactcttagggtcctCttcatatgtttttgttttag	6	21	6	8	0	3	0	1	0	2	0	4	0	4	0	2	1	2	2	2	1	5	9			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:54591224C>G	ENST00000251636.5	-	5	782	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	212							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTAGGGTCCTCTTCATATGTT	0.333													11	85					0	0	0	0	G	54591224	C	G	54591224	3	3	186	1	0	0	0	0	1	0	0	0	4540	922	32	2	3567	2	DHX29	5	54591224	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	18784408	54591224	126324036	70	32793											
MAP3K1	4214	broad.mit.edu	37	chr5	56179360	56179360	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtttaatatgtagacaccaGagactctaccaggacatacc	14	9	7	11	1	1	2	0	0	1	2	1	4	1	3	3	1	2	2	3	1	5	6			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:56179360G>C	ENST00000399503.3	+	15	3673	c.3673G>C	c.(3673-3675)Gag>Cag	p.E1225Q		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1225					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GTAGACACCAGAGACTCTACC	0.368													3	56					0	0	0	0	C	56179360	G	C	56179360	3	2	186	1	0	0	0	0	1	0	0	0	9312	943	33	2	3731	2	MAP3K1	5	56179360	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1588136	56179360	124735900	71	32794											
HTR1A	3350	broad.mit.edu	37	chr5	63256583	63256583	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gttgcgctcatttttcctctCgaaagaggcgggggcacaag	8	10	13	10	3	2	1	1	0	1	1	4	2	3	1	1	3	1	3	1	3	2	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:63256583C>G	ENST00000323865.3	-	1	1197	c.964G>C	c.(964-966)Gag>Cag	p.E322Q	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	322					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TTTTTCCTCTCGAAAGAGGCG	0.617													4	51					0	0	0	0	G	63256583	C	G	63256583	3	3	186	1	0	0	0	0	1	0	0	0	7489	893	31	3	307	3	HTR1A	5	63256583	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	7077223	63256583	117658677	72	32795											
XRCC4	7518	broad.mit.edu	37	chr5	82400809	82400809	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcattttctacaagtatcttGggagaaaacactggaatctg	13	13	8	7	0	4	1	1	0	3	1	4	3	4	2	0	2	2	1	0	2	6	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:82400809G>C	ENST00000282268.3	+	2	246	c.71G>C	c.(70-72)tGg>tCg	p.W24S	XRCC4_ENST00000511817.1_Missense_Mutation_p.W24S|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Missense_Mutation_p.W24S|XRCC4_ENST00000338635.6_Missense_Mutation_p.W24S	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	24					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		CAAGTATCTTGGGAGAAAACA	0.338								Non-homologous end-joining					10	110					0	0	0	0	C	82400809	G	C	82400809	3	2	186	1	0	0	0	0	1	0	0	0	17551	1357	47	4	73	4	XRCC4	5	82400809	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	19144226	82400809	98514451	73	32796											
APC	324	broad.mit.edu	37	chr5	112175987	112175987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaaggacctattagatGattcagatgatgatgatatt	15	13	9	4	0	1	7	1	5	0	2	1	8	1	8	1	1	0	0	1	1	5	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:112175987G>T	ENST00000457016.1	+	16	5076	c.4696G>T	c.(4696-4698)Gat>Tat	p.D1566Y	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.D1566Y|APC_ENST00000508376.2_Missense_Mutation_p.D1566Y			P25054	APC_HUMAN	adenomatous polyposis coli	1566	Asp/Glu-rich (acidic).|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.D1566N(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCTATTAGATGATTCAGATGA	0.363		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			12	83					0.00010058	0.000105623	1	0	T	112175987	G	T	112175987	3	4	186	1	0	0	0	0	1	0	0	0	764	1290	45	2	4754	2	APC	5	112175987	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	29775178	112175987	68739273	74	32797											
ZNF608	57507	broad.mit.edu	37	chr5	123984449	123984449	+	Frame_Shift_Del	DEL	A	A	-																															gagaagagcagccttggtccAaaaaagtagtctctggtttc																										TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:123984449delA	ENST00000306315.5	-	4	2063	c.1628delT	c.(1627-1629)tgfs	p.L543fs	ZNF608_ENST00000504926.1_Frame_Shift_Del_p.L116fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	543						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTTGGTCCAAAAAAGTAGT	0.502													7	190	---	---	---	---					-	123984449	A	-	123984449	7	5	186	1	0	1	0	1	0	0	0	0	18129	131	5	0	2934	0	ZNF608	5	123984449	Frame_Shift_Del	DEL	A	TCGA-CR-6484-01A-11D-1870-08	11808462	123984449	56930811	75	32798											
GRAMD3	65983	broad.mit.edu	37	chr5	125821386	125821386	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctcccaacaggtctgtcaGaaactgttggaatcttacat	11	12	7	11	0	3	1	1	0	2	1	5	2	5	2	2	2	3	1	2	2	4	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:125821386G>C	ENST00000285689.3	+	11	1440	c.979G>C	c.(979-981)Gaa>Caa	p.E327Q	RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000544396.1_Missense_Mutation_p.E223Q|GRAMD3_ENST00000511134.1_Missense_Mutation_p.E311Q|GRAMD3_ENST00000542322.1_Missense_Mutation_p.E335Q|GRAMD3_ENST00000515200.1_Missense_Mutation_p.E305Q|GRAMD3_ENST00000543198.1_Missense_Mutation_p.E305Q|GRAMD3_ENST00000513040.1_Missense_Mutation_p.E342Q|GRAMD3_ENST00000502348.1_Missense_Mutation_p.E218Q|RP11-517I3.1_ENST00000515808.1_RNA	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	327										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AGGTCTGTCAGAAACTGTTGG	0.353													6	60					0	0	0	0	C	125821386	G	C	125821386	3	2	186	1	0	0	0	0	1	0	0	0	6801	943	33	2	1235	2	GRAMD3	5	125821386	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1836937	125821386	55093874	76	32799											
RAD50	10111	broad.mit.edu	37	chr5	131953875	131953875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcattttaagaaagaacttcGagaaccacaatttcgggatg	15	11	8	7	2	1	3	1	0	0	3	3	5	1	4	1	1	2	0	1	1	5	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:131953875G>A	ENST00000378823.3	+	21	3679	c.2861G>A	c.(2860-2862)cGa>cAa	p.R954Q	RAD50_ENST00000265335.6_Missense_Mutation_p.R1093Q	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1093					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAAGAACTTCGAGAACCACAA	0.323								Homologous recombination					32	187					0	0	0	0	A	131953875	G	A	131953875	3	1	186	1	0	0	0	0	1	0	0	0	13066	1058	37	1	3360	1	RAD50	5	131953875	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	6132489	131953875	48961385	77	32800											
PCDH1	5097	broad.mit.edu	37	chr5	141244811	141244811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactcttggggttggtgcctCggtccttagcaagcactgag	6	11	13	11	1	1	1	0	1	1	0	3	1	2	1	2	4	3	3	2	4	2	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:141244811C>T	ENST00000287008.3	-	3	1232	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.R350Q|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Missense_Mutation_p.R362Q|PCDH1_ENST00000536585.1_Missense_Mutation_p.R340Q	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	362	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTTGGTGCCTCGGTCCTTAGC	0.582													14	102					0	0	0	0	T	141244811	C	T	141244811	3	4	186	1	0	0	0	0	1	0	0	0	11577	884	31	1	2724	1	PCDH1	5	141244811	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	9290936	141244811	39670449	78	32801											
KIAA0141	9812	broad.mit.edu	37	chr5	141307791	141307791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccagcaggacctcagCgggtagaacactgctcctgg	8	6	12	15	1	1	1	1	0	0	1	2	2	2	2	4	3	5	3	4	3	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:141307791C>T	ENST00000432126.2	+	4	474	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	KIAA0141_ENST00000194118.4_Missense_Mutation_p.R114W	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	114					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACCTCAGCGGGTAGAACA	0.612													11	67					0	0	0	0	T	141307791	C	T	141307791	3	4	186	1	0	0	0	0	1	0	0	0	8207	759	27	1	354	1	KIAA0141	5	141307791	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	62980	141307791	39607469	79	32802											
ZNF300	91975	broad.mit.edu	37	chr5	150276107	150276107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactccattgtgaatcttctCaagattagaattgggctcac	11	14	7	9	0	3	3	2	1	2	2	5	3	4	3	1	1	1	1	1	1	5	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:150276107C>G	ENST00000446148.2	-	7	1169	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	ZNF300_ENST00000394226.2_Missense_Mutation_p.E232Q|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.E196Q|ZNF300_ENST00000274599.5_Missense_Mutation_p.E232Q	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAATCTTCTCAAGATTAGAA	0.353													22	121					0	0	0	0	G	150276107	C	G	150276107	3	3	186	1	0	0	0	0	1	0	0	0	17926	835	29	2	1124	2	ZNF300	5	150276107	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	8968316	150276107	30639153	80	32803											
KIF4B	285643	broad.mit.edu	37	chr5	154393495	154393495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtccccaaagagattagcGagggctgccagatgtgcctt	9	9	13	10	1	0	2	0	0	0	2	1	4	1	2	4	2	3	1	4	2	2	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:154393495G>A	ENST00000435029.4	+	1	236	c.76G>A	c.(76-78)Gag>Aag	p.E26K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	26	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGAGATTAGCGAGGGCTGCCA	0.522													22	44					0	0	0	0	A	154393495	G	A	154393495	3	1	186	1	0	0	0	0	1	0	0	0	8355	1059	37	1	78	1	KIF4B	5	154393495	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	4117388	154393495	26521765	81	32804											
GABRB2	2561	broad.mit.edu	37	chr5	160721121	160721121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaagccaatagacgatgttGaagaaggaaaaaaccactgg	19	6	10	6	1	0	3	0	1	0	2	0	5	0	4	2	2	2	1	2	2	9	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:160721121G>C	ENST00000274547.2	-	11	1723	c.1506C>G	c.(1504-1506)ttC>ttG	p.F502L	GABRB2_ENST00000393959.1_Missense_Mutation_p.F502L|GABRB2_ENST00000517901.1_Missense_Mutation_p.F401L|GABRB2_ENST00000353437.6_Missense_Mutation_p.F464L|GABRB2_ENST00000520240.1_Missense_Mutation_p.F464L|GABRB2_ENST00000517547.1_Missense_Mutation_p.F304L	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	502					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGACGATGTTGAAGAAGGAAA	0.468													7	55					0	0	0	0	C	160721121	G	C	160721121	3	2	186	1	0	0	0	0	1	0	0	0	6215	1281	45	2	36	2	GABRB2	5	160721121	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	6327626	160721121	20194139	82	32805											
FGFR4	2264	broad.mit.edu	37	chr5	176519745	176519745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctcgcaggcaattccatCggcctctcctaccagtctgc	6	10	8	17	2	2	0	0	0	2	0	6	0	3	0	5	2	3	2	5	2	2	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:176519745C>T	ENST00000292408.4	+	8	1262	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	FGFR4_ENST00000502906.1_Silent_p.I339I|FGFR4_ENST00000393648.2_Silent_p.I339I|FGFR4_ENST00000393637.1_Silent_p.I339I|FGFR4_ENST00000292410.3_Silent_p.I339I	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	339	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCAATTCCATCGGCCTCTCCT	0.632										TSP Lung(9;0.080)			4	52					0	0	0	0	T	176519745	C	T	176519745	2	4	186	1	0	0	0	0	0	0	0	1	5913	874	31	1		1	FGFR4	5	176519745	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	15798624	176519745	4395515	83	32806											
RGS14	10636	broad.mit.edu	37	chr5	176794747	176794747	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcccgggaagtcgctgccGctgggtgtggaggagttggg	6	7	20	8	3	0	0	0	0	0	0	1	3	0	3	2	5	2	3	2	5	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:176794747G>A	ENST00000408923.3	+	7	848	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	220					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTCGCTGCCGCTGGGTGTGG	0.711													6	34					0	0	0	0	A	176794747	G	A	176794747	2	1	186	1	0	0	0	0	0	0	0	1	13380	1074	38	1		1	RGS14	5	176794747	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	275002	176794747	4120513	84	32807											
NUP153	9972	broad.mit.edu	37	chr6	17637953	17637953	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtataaactactgggcttGttgcggtgggctgagcagca	8	12	14	7	1	0	1	0	1	0	0	0	1	0	1	0	3	5	6	0	3	4	6			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:17637953G>C	ENST00000262077.2	-	16	1894	c.1895C>G	c.(1894-1896)aCa>aGa	p.T632R	NUP153_ENST00000537253.1_Missense_Mutation_p.T663R	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	632					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TACTGGGCTTGTTGCGGTGGG	0.438													10	80					0	0	0	0	C	17637953	G	C	17637953	3	2	186	1	0	0	0	0	1	0	0	0	10826	1377	48	4	2560	4	NUP153	6	17637953	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08		17637953	153477114	85	32808											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26200015	26200015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcgagcgcatcgctggcGaggcttcccgcctggcgcat	4	9	13	15	6	1	0	0	0	1	0	4	2	2	0	2	3	1	4	2	3	0	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:26200015G>A	ENST00000359985.1	+	1	268	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	77					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.E77K(3)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CATCGCTGGCGAGGCTTCCCG	0.612													11	155					0	0	0	0	A	26200015	G	A	26200015	3	1	186	1	0	0	0	0	1	0	0	0	7195	1059	37	1	231	1	HIST1H2BF	6	26200015	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	8562062	26200015	144915052	86	32809											
BTN1A1	696	broad.mit.edu	37	chr6	26505360	26505360	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgatcatcagagacacttCtgcgaaaaatgtgtcctgct	12	11	9	9	1	3	2	2	1	1	1	4	4	4	2	1	0	2	1	1	0	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:26505360C>G	ENST00000244513.6	+	3	701	c.635C>G	c.(634-636)tCt>tGt	p.S212C		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	212	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGAGACACTTCTGCGAAAAAT	0.448													11	71					0	0	0	0	G	26505360	C	G	26505360	3	3	186	1	0	0	0	0	1	0	0	0	1568	913	32	2	645	2	BTN1A1	6	26505360	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	305345	26505360	144609707	87	32810											
PGBD1	84547	broad.mit.edu	37	chr6	28269871	28269871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaaatggatcaaattatttCgaaatacagggtgaggataa	18	11	9	3	1	1	1	1	1	0	0	2	4	1	3	0	3	1	0	0	3	7	5	rs147237521	byFrequency	TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:28269871C>T	ENST00000405948.2	+	7	2660	c.2240C>T	c.(2239-2241)tCg>tTg	p.S747L	PGBD1_ENST00000259883.3_Missense_Mutation_p.S747L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	747					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CAAATTATTTCGAAATACAGG	0.388													8	52					0	0	0	0	T	28269871	C	T	28269871	3	4	186	1	0	0	0	0	1	0	0	0	11852	893	31	1	2262	1	PGBD1	6	28269871	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1764511	28269871	142845196	88	32811											
OR2H1	26716	broad.mit.edu	37	chr6	29430385	29430385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctatgcagtgggcaCtccttcacttaaccctctcg	6	14	6	15	1	4	0	1	0	3	0	7	0	5	0	2	1	2	2	2	1	2	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:29430385C>G	ENST00000377136.1	+	4	1304	c.839C>G	c.(838-840)aCt>aGt	p.T280S	OR2H1_ENST00000377132.1_Missense_Mutation_p.T280S|OR2H1_ENST00000442615.1_Missense_Mutation_p.T280S|OR2H1_ENST00000396792.2_Missense_Mutation_p.T280S|OR2H1_ENST00000377133.1_Missense_Mutation_p.T280S|OR2H1_ENST00000473369.1_3'UTR			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GCAGTGGGCACTCCTTCACTT	0.512													14	91					0	0	0	0	G	29430385	C	G	29430385	3	3	186	1	0	0	0	0	1	0	0	0	11072	565	20	4	841	4	OR2H1	6	29430385	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1160514	29430385	141684682	89	32812											
TRIM10	10107	broad.mit.edu	37	chr6	30126982	30126982	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatttcttgaatctcctctCtctcttttcttagacattta	7	20	4	10	0	5	2	0	1	5	1	8	3	5	3	1	1	0	0	1	1	3	7			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:30126982C>G	ENST00000449742.2	-	2	545	c.470G>C	c.(469-471)aGa>aCa	p.R157T	TRIM10_ENST00000376704.3_Missense_Mutation_p.R157T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	157						cytoplasm	zinc ion binding			ovary(1)	1						AATCTCCTCTCTCTCTTTTCT	0.423													3	61					0	0	0	0	G	30126982	C	G	30126982	3	3	186	1	0	0	0	0	1	0	0	0	16581	913	32	2	1087	2	TRIM10	6	30126982	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	696597	30126982	140988085	90	32813											
TRIM15	89870	broad.mit.edu	37	chr6	30131831	30131831	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttcctggacgaggccattCagccctaccgggtaagaagt	9	8	13	11	2	1	1	1	0	0	1	2	3	2	2	4	4	2	2	4	4	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:30131831C>G	ENST00000376694.4	+	1	839	c.370C>G	c.(370-372)Cag>Gag	p.Q124E	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	124					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGAGGCCATTCAGCCCTACCG	0.577													11	42					0	0	0	0	G	30131831	C	G	30131831	3	3	186	1	0	0	0	0	1	0	0	0	16585	827	29	2	372	2	TRIM15	6	30131831	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	4849	30131831	140983236	91	32814											
HSPA1L	3305	broad.mit.edu	37	chr6	31778792	31778792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatcccgaagcgctttttCtacaggctccagggtacccc	7	9	10	15	2	1	0	0	0	1	0	3	1	3	0	4	3	3	4	4	3	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:31778792C>T	ENST00000375654.4	-	2	1147	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	HSPA1L_ENST00000417199.3_Missense_Mutation_p.E320K	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	320					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGCGCTTTTTCTACAGGCTCC	0.488													10	65					0	0	0	0	T	31778792	C	T	31778792	3	4	186	1	0	0	0	0	1	0	0	0	7462	922	32	2	971	2	HSPA1L	6	31778792	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1646961	31778792	139336275	92	32815											
KIFC1	3833	broad.mit.edu	37	chr6	33371665	33371665	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcttcaggaccagctcaGagatgcccagcagcaggtca	11	5	12	13	0	3	1	3	0	0	1	3	3	3	2	2	2	5	5	2	2	0	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:33371665G>C	ENST00000428849.2	+	6	965	c.515G>C	c.(514-516)aGa>aCa	p.R172T		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	172					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GACCAGCTCAGAGATGCCCAG	0.557													12	91					0	0	0	0	C	33371665	G	C	33371665	3	2	186	1	0	0	0	0	1	0	0	0	8363	942	33	2	537	2	KIFC1	6	33371665	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1592873	33371665	137743402	93	32816											
KCNK16	83795	broad.mit.edu	37	chr6	39284586	39284586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtccccaaagccaatggtGctgagagtgatgaaagcaaa	15	7	11	8	0	0	3	0	3	0	1	1	4	1	3	3	1	3	2	3	1	5	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:39284586G>T	ENST00000425054.2	-	4	632	c.633C>A	c.(631-633)agC>agA	p.S211R	KCNK16_ENST00000373229.5_Missense_Mutation_p.S211R|KCNK16_ENST00000507712.1_Missense_Mutation_p.S146R|KCNK16_ENST00000373227.4_Missense_Mutation_p.S211R|KCNK16_ENST00000437525.2_Missense_Mutation_p.S211R	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	211						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGCCAATGGTGCTGAGAGTGA	0.532													36	247					4.46736e-08	4.85359e-08	1	0	T	39284586	G	T	39284586	3	4	186	1	0	0	0	0	1	0	0	0	8116	1310	46	4	693	4	KCNK16	6	39284586	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	5912921	39284586	131830481	94	32817											
ZNF451	26036	broad.mit.edu	37	chr6	57015615	57015615	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcaaacttttttggtcatCtaccagggcatctaaaccaa	12	12	7	10	0	4	0	2	0	2	0	4	0	4	0	2	3	3	1	2	3	5	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:57015615C>T	ENST00000370706.4	+	11	2951	c.2707C>T	c.(2707-2709)Cta>Tta	p.L903L	RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000357489.3_Intron|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Silent_p.L903L|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	903					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTTGGTCATCTACCAGGGCA	0.358													17	106					0	0	0	0	T	57015615	C	T	57015615	2	4	186	1	0	0	0	0	0	0	0	1	18017	912	32	2		2	ZNF451	6	57015615	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	17731029	57015615	114099452	95	32818											
KIAA1009	22832	broad.mit.edu	37	chr6	84895136	84895136	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttacccattacagccccttCttcttcagaactaagttgag	10	14	5	12	0	3	2	1	1	2	1	3	2	3	2	3	0	4	1	3	0	4	8			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:84895136C>G	ENST00000403245.3	-	13	1546	c.1432G>C	c.(1432-1434)Gaa>Caa	p.E478Q	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.E402Q	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	478					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ACAGCCCCTTCTTCTTCAGAA	0.363													9	97					0	0	0	0	G	84895136	C	G	84895136	3	3	186	1	0	0	0	0	1	0	0	0	8254	922	32	2	2839	2	KIAA1009	6	84895136	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	27879521	84895136	86219931	96	32819											
GPR63	81491	broad.mit.edu	37	chr6	97247016	97247016	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcccaagaaactgcaatcaGaaccttagctctatatgggt	13	10	8	10	0	2	2	1	0	1	2	2	2	2	2	2	1	5	2	2	1	7	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:97247016G>A	ENST00000229955.3	-	2	937	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L	GPR63_ENST00000417980.1_Silent_p.L198L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	198						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ACTGCAATCAGAACCTTAGCT	0.458													5	109					0	0	0	0	A	97247016	G	A	97247016	2	1	186	1	0	0	0	0	0	0	0	1	6753	933	33	2		2	GPR63	6	97247016	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	12351880	97247016	73868051	97	32820											
LAMA4	3910	broad.mit.edu	37	chr6	112537671	112537671	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaatccagcattgcatttCtgcaacagacacaccaaacc	16	7	5	13	0	1	2	0	0	1	2	2	2	2	2	3	0	5	3	3	0	4	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:112537671C>T	ENST00000230538.7	-	3	593		c.e3-1		LAMA4_ENST00000431543.2_Splice_Site|LAMA4_ENST00000389463.4_Splice_Site|LAMA4_ENST00000424408.2_Splice_Site|LAMA4_ENST00000524032.1_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATTGCATTTCTGCAACAGAC	0.393													9	40					0	0	0	0	T	112537671	C	T	112537671	5	4	186	1	0	0	0	0	0	0	1	0	8661	927	32	2	5424	2	LAMA4	6	112537671	Splice_Site	SNP	C	TCGA-CR-6484-01A-11D-1870-08	15290655	112537671	58577396	98	32821											
ALDH8A1	64577	broad.mit.edu	37	chr6	135239804	135239804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttcaatcacctcctcttCactatcaaaggggacgacac	11	11	5	14	1	6	0	4	0	2	0	7	2	7	1	2	2	0	0	2	2	3	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:135239804C>T	ENST00000265605.2	-	7	1281	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.E351K|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.E355K	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	405					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACCTCCTCTTCACTATCAAAG	0.517													7	74					0	0	0	0	T	135239804	C	T	135239804	3	4	186	1	0	0	0	0	1	0	0	0	505	835	29	2	254	2	ALDH8A1	6	135239804	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	22702133	135239804	35875263	99	32822											
UTRN	7402	broad.mit.edu	37	chr6	144772564	144772564	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaatggaaaactgccattCagaccacagagataaaagag	19	6	9	7	0	1	4	1	1	0	3	1	6	1	5	2	1	2	0	2	1	5	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:144772564C>G	ENST00000367545.3	+	17	2131	c.2131C>G	c.(2131-2133)Cag>Gag	p.Q711E		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	711	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACTGCCATTCAGACCACAGA	0.363													7	32					0	0	0	0	G	144772564	C	G	144772564	3	3	186	1	0	0	0	0	1	0	0	0	17199	827	29	2	2197	2	UTRN	6	144772564	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	9532760	144772564	26342503	100	32823											
ARID1B	57492	broad.mit.edu	37	chr6	157522076	157522076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcctcagatgatgggcGgcccgctgcagtcgtcctcc	4	8	12	17	4	1	2	1	1	0	1	5	2	4	2	5	2	1	2	5	2	0	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:157522076G>A	ENST00000346085.5	+	18	4349	c.4348G>A	c.(4348-4350)Ggc>Agc	p.G1450S	ARID1B_ENST00000275248.4_Missense_Mutation_p.G1432S|ARID1B_ENST00000350026.5_Missense_Mutation_p.G1437S|ARID1B_ENST00000367148.1_Missense_Mutation_p.G1490S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1437					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GATGATGGGCGGCCCGCTGCA	0.637													10	29					0	0	0	0	A	157522076	G	A	157522076	3	1	186	1	0	0	0	0	1	0	0	0	916	1116	39	1	4418	1	ARID1B	6	157522076	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	12749512	157522076	13592991	101	32824											
MICALL2	79778	broad.mit.edu	37	chr7	1477794	1477794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggagctccagggcgtccagCcgcctctcgatgtcctgcag	5	7	13	16	4	1	0	0	0	1	0	5	2	4	1	5	2	3	2	5	2	0	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:1477794C>T	ENST00000297508.7	-	12	2425	c.2250G>A	c.(2248-2250)cgG>cgA	p.R750R	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Silent_p.R538R	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	750						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGGCGTCCAGCCGCCTCTCGA	0.726													2	3					0	0	0	0	T	1477794	C	T	1477794	2	4	186	1	0	0	0	0	0	0	0	1	9643	726	26	4		4	MICALL2	7	1477794	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08		1477794	157660869	102	32825											
FOXK1	221937	broad.mit.edu	37	chr7	4722413	4722413	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttccaggagccgcacttCtacctgcgctgcctcggcaa	7	8	10	16	3	1	0	0	0	1	0	3	1	2	1	4	2	5	4	4	2	2	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:4722413C>T	ENST00000328914.4	+	1	474	c.474C>T	c.(472-474)ttC>ttT	p.F158F	FOXK1_ENST00000446823.1_Intron	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	158	FHA.				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AGCCGCACTTCTACCTGCGCT	0.692													3	12					0	0	0	0	T	4722413	C	T	4722413	2	4	186	1	0	0	0	0	0	0	0	1	6061	912	32	2		2	FOXK1	7	4722413	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	3244619	4722413	154416250	103	32826											
FOXK1	221937	broad.mit.edu	37	chr7	4800700	4800700	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gttcctgtcccgcaggcctgGaggagaaacccaccattgcg	8	7	12	14	2	0	1	0	0	0	1	2	3	2	2	5	3	2	2	5	3	1	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:4800700G>C	ENST00000328914.4	+	8	1702	c.1702G>C	c.(1702-1704)Gag>Cag	p.E568Q	FOXK1_ENST00000446823.1_Missense_Mutation_p.E405Q	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	568					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CGCAGGCCTGGAGGAGAAACC	0.637													9	94					0	0	0	0	C	4800700	G	C	4800700	3	2	186	1	0	0	0	0	1	0	0	0	6061	1175	41	2	1732	2	FOXK1	7	4800700	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	78287	4800700	154337963	104	32827											
MACC1	346389	broad.mit.edu	37	chr7	20198921	20198921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtggcagctggtgacggaaGagctttagcttgtgcagcaa	9	9	16	7	1	0	2	0	1	0	1	0	3	0	3	0	4	5	6	0	4	3	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:20198921G>C	ENST00000400331.5	-	5	1371	c.1063C>G	c.(1063-1065)Ctt>Gtt	p.L355V	MACC1_ENST00000589011.1_Missense_Mutation_p.L355V|MACC1_ENST00000332878.4_Missense_Mutation_p.L355V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	355					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GGTGACGGAAGAGCTTTAGCT	0.398													3	67					0	0	0	0	C	20198921	G	C	20198921	3	2	186	1	0	0	0	0	1	0	0	0	9208	942	33	2	1507	2	MACC1	7	20198921	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	15398221	20198921	138939742	105	32828											
ELMO1	9844	broad.mit.edu	37	chr7	37172813	37172813	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcccaggtggagtctgcgtGaagtccatggcagggttgac	8	9	15	9	1	1	2	0	2	1	0	3	3	3	3	2	4	1	2	2	4	1	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:37172813G>A	ENST00000310758.4	-	14	1760	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	ELMO1_ENST00000341056.3_Silent_p.F73F|ELMO1_ENST00000442504.1_Silent_p.F371F|ELMO1_ENST00000448602.1_Silent_p.F371F	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	371	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAGTCTGCGTGAAGTCCATGG	0.468													14	141					0	0	0	0	A	37172813	G	A	37172813	2	1	186	1	0	0	0	0	0	0	0	1	5103	1281	45	2		2	ELMO1	7	37172813	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	16973892	37172813	121965850	106	32829											
CDK13	8621	broad.mit.edu	37	chr7	40041594	40041594	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatgaaggaaatagtgactGataaagaagatgctttggat	17	11	11	2	0	0	5	0	3	0	2	0	7	0	7	0	2	1	1	0	2	7	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:40041594G>C	ENST00000181839.4	+	5	2922	c.2317G>C	c.(2317-2319)Gat>Cat	p.D773H	CDK13_ENST00000340829.5_Missense_Mutation_p.D773H|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	773	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AATAGTGACTGATAAAGAAGA	0.323													16	78					0	0	0	0	C	40041594	G	C	40041594	3	2	186	1	0	0	0	0	1	0	0	0	3158	1290	45	2	2335	2	CDK13	7	40041594	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	2868781	40041594	119097069	107	32830											
C7orf10	79783	broad.mit.edu	37	chr7	40723654	40723654	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttgctggttgtcaataGaacgctgtctctggcttcca	6	16	9	10	1	3	1	1	0	2	1	5	1	4	1	1	2	2	4	1	2	3	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:40723654G>C	ENST00000309930.5	+	13	1134		c.e13-1		C7orf10_ENST00000401647.2_Intron|C7orf10_ENST00000335693.4_Intron	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10								transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						gttgtcaatagaacgctgtct	0.483													9	41					0	0	0	0	C	40723654	G	C	40723654	5	2	186	1	0	0	0	0	0	0	1	0	2399	956	33	2	1049	2	C7orf10	7	40723654	Splice_Site	SNP	G	TCGA-CR-6484-01A-11D-1870-08	682060	40723654	118415009	108	32831											
OGDH	4967	broad.mit.edu	37	chr7	44715767	44715767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaaggcccagagagaggCgtgcaaggcagatcgtcaag	13	4	16	8	2	1	3	1	0	0	3	2	4	1	3	1	4	1	3	1	4	3	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:44715767C>T	ENST00000443864.2	+	9	1318	c.1225C>T	c.(1225-1227)Cgt>Tgt	p.R409C	OGDH_ENST00000222673.5_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000447398.1_Intron|OGDH_ENST00000444676.1_Intron|OGDH_ENST00000439616.2_Intron	NM_001003941.2	NP_001003941.1	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	917					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CAGAGAGAGGCGTGCAAGGCA	0.527													9	47					0	0	0	0	T	44715767	C	T	44715767	3	4	186	1	0	0	0	0	1	0	0	0	10910	768	27	1	1350	1	OGDH	7	44715767	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	3992113	44715767	114422896	109	32832											
CCM2	83605	broad.mit.edu	37	chr7	45113081	45113081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccctgaatctgtggatGtgggtggtgcatcaccccac	6	11	12	12	0	2	1	1	1	1	0	3	2	3	2	3	3	1	2	3	3	1	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:45113081G>A	ENST00000381112.3	+	8	1568	c.889G>A	c.(889-891)Gtg>Atg	p.V297M	CCM2_ENST00000258781.6_Missense_Mutation_p.V276M|CCM2_ENST00000544363.1_Missense_Mutation_p.V185M|CCM2_ENST00000541586.1_Missense_Mutation_p.V218M|CCM2_ENST00000474617.1_Missense_Mutation_p.V179M|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000475551.1_Missense_Mutation_p.V270M	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	276					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATCTGTGGATGTGGGTGGTGC	0.587													5	30					0	0	0	0	A	45113081	G	A	45113081	3	1	186	1	0	0	0	0	1	0	0	0	2937	1377	48	4	953	4	CCM2	7	45113081	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	397314	45113081	114025582	110	32833											
STYXL1	51657	broad.mit.edu	37	chr7	75643194	75643194	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatactcaatggctgcttGaggcacaagatctgagagtg	11	9	12	9	0	2	3	1	2	1	2	2	4	2	3	1	2	2	3	1	2	3	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:75643194G>A	ENST00000451157.1	-	5	488	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	STYXL1_ENST00000431581.1_Nonsense_Mutation_p.Q107*|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000359697.3_Nonsense_Mutation_p.Q107*|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000248600.1_Nonsense_Mutation_p.Q107*|STYXL1_ENST00000360591.3_Intron			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	107	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						ATGGCTGCTTGAGGCACAAGA	0.522													23	129					0	0	0	0	A	75643194	G	A	75643194	4	1	186	1	0	0	0	0	0	1	0	0	15451	1299	45	2	642	2	STYXL1	7	75643194	Nonsense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	30530113	75643194	83495469	111	32834											
SRRM3	222183	broad.mit.edu	37	chr7	75896598	75896598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagccccaagcaccgagacGaagggcgaaagacgggcagc	13	1	15	12	4	0	3	0	1	0	2	0	6	0	3	3	2	3	2	3	2	3	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:75896598G>A	ENST00000388802.4	+	11	1062	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	SRRM3_ENST00000326382.8_Missense_Mutation_p.E285K|SRRM3_ENST00000464752.1_3'UTR					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GCACCGAGACGAAGGGCGAAA	0.706													4	13					0	0	0	0	A	75896598	G	A	75896598	3	1	186	1	0	0	0	0	1	0	0	0	15260	1059	37	1	891	1	SRRM3	7	75896598	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	253404	75896598	83242065	112	32835											
PCLO	27445	broad.mit.edu	37	chr7	82453635	82453635	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctgctctgactggaaTgagacttgccatgatcaatg	9	11	12	9	0	2	3	1	3	1	1	2	5	2	4	1	2	2	3	1	2	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:82453635T>C	ENST00000423517.2	-	19	14850	c.14513A>G	c.(14512-14514)cAt>cGt	p.H4838R	PCLO_ENST00000333891.8_Missense_Mutation_p.H4838R|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4700					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGACTGGAATGAGACTTGCC	0.433													9	38					0	0	0	0	C	82453635	T	C	82453635	3	2	186	1	0	0	0	0	1	0	0	0	11654	1464	51	5	960	5	PCLO	7	82453635	Missense_Mutation	SNP	T	TCGA-CR-6484-01A-11D-1870-08	6557037	82453635	76685028	113	32836											
AKAP9	10142	broad.mit.edu	37	chr7	91726162	91726162	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaacaaggtcgaaacttaGagcttcaggtacttcttgaa	15	10	9	7	1	2	3	1	1	1	2	3	4	2	3	0	2	4	2	0	2	7	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:91726162G>C	ENST00000359028.2	+	41	10126	c.9901G>C	c.(9901-9903)Gag>Cag	p.E3301Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E3247Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E3297Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3301			E -> Q (in a breast cancer sample; somatic mutation).		G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.E3301Q(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCGAAACTTAGAGCTTCAGGT	0.438			T	BRAF	papillary thyroid								13	72					0	0	0	0	C	91726162	G	C	91726162	3	2	186	1	0	0	0	0	1	0	0	0	459	943	33	2	10051	2	AKAP9	7	91726162	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	9272527	91726162	67412501	114	32837											
SAMD9	54809	broad.mit.edu	37	chr7	92731898	92731898	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcacttcatactctctatcTtcactttgctgttgagattc	7	19	4	11	0	5	1	3	1	2	1	7	2	5	1	0	0	2	2	0	0	2	8			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:92731898T>C	ENST00000379958.2	-	3	3782	c.3513A>G	c.(3511-3513)gaA>gaG	p.E1171E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1171						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTCTCTATCTTCACTTTGCT	0.393													25	163					0	0	0	0	C	92731898	T	C	92731898	2	2	186	1	0	0	0	0	0	0	0	1	13911	1606	56	5		5	SAMD9	7	92731898	Silent	SNP	T	TCGA-CR-6484-01A-11D-1870-08	1005736	92731898	66406765	115	32838											
COL1A2	1278	broad.mit.edu	37	chr7	94057615	94057615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcttaaaaggttactactgGattgaccctaaccaaggatg	13	12	8	8	0	1	1	0	1	1	0	1	3	1	3	2	3	3	1	2	3	6	6			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:94057615G>T	ENST00000297268.6	+	50	4008	c.3537G>T	c.(3535-3537)tgG>tgT	p.W1179C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1179	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTTACTACTGGATTGACCCTA	0.383										HNSCC(75;0.22)			9	106					0.0692343	0.070354	1	0	T	94057615	G	T	94057615	3	4	186	1	0	0	0	0	1	0	0	0	3708	1183	41	2	3735	2	COL1A2	7	94057615	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1325717	94057615	65081048	116	32839											
TAF6	6878	broad.mit.edu	37	chr7	99705659	99705659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agacaccagtgtctggacagGaagtgcgatggagccaggaa	13	5	15	8	1	1	1	0	0	1	1	1	6	1	5	2	4	2	0	2	4	2	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:99705659G>A	ENST00000344095.4	-	14	2071	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S	TAF6_ENST00000453269.2_Missense_Mutation_p.P516S|TAF6_ENST00000452041.1_Missense_Mutation_p.P516S|TAF6_ENST00000472509.1_Missense_Mutation_p.P573S|TAF6_ENST00000418432.2_Missense_Mutation_p.P440S|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000437822.2_Missense_Mutation_p.P553S	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	516					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCTGGACAGGAAGTGCGATG	0.647													5	46					0	0	0	0	A	99705659	G	A	99705659	3	1	186	1	0	0	0	0	1	0	0	0	15621	1174	41	2	495	2	TAF6	7	99705659	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	5648044	99705659	59433004	117	32840											
TFR2	7036	broad.mit.edu	37	chr7	100229801	100229801	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgagcactccttgagccccGaagtcctgagcattggtcac	9	9	10	13	1	1	3	1	3	0	0	3	4	3	3	4	1	3	2	4	1	1	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:100229801G>A	ENST00000462107.1	-	8	1157	c.870C>T	c.(868-870)ttC>ttT	p.F290F	TFR2_ENST00000223051.3_Silent_p.F290F|TFR2_ENST00000431692.1_Intron|TFR2_ENST00000544242.1_5'UTR			Q9UP52	TFR2_HUMAN	transferrin receptor 2	290					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTTGAGCCCCGAAGTCCTGAG	0.557													18	87					0	0	0	0	A	100229801	G	A	100229801	2	1	186	1	0	0	0	0	0	0	0	1	15905	1049	37	1		1	TFR2	7	100229801	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	524142	100229801	58908862	118	32841											
PRSS1	5644	broad.mit.edu	37	chr7	142460822	142460822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagtctacaccaaggTctacaactatgtgaaatgga	13	9	10	9	0	2	1	0	1	2	0	2	3	2	3	2	3	3	0	2	3	6	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:142460822T>G	ENST00000486171.1	+	6	754	c.737T>G	c.(736-738)gTc>gGc	p.V246G	PRSS1_ENST00000311737.7_Missense_Mutation_p.V232G			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	232					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TACACCAAGGTCTACAACTAT	0.488													16	66					0	0	0	0	G	142460822	T	G	142460822	3	3	186	1	0	0	0	0	1	0	0	0	12693	1667	58	5	713	5	PRSS1	7	142460822	Missense_Mutation	SNP	T	TCGA-CR-6484-01A-11D-1870-08	42231021	142460822	16677841	119	32842											
GIMAP8	155038	broad.mit.edu	37	chr7	150164001	150164001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacccctgaccttttctcctCaatagcttgtgctgaagaca	9	12	6	14	0	2	3	1	2	1	1	3	3	2	3	4	0	2	2	4	0	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:150164001C>T	ENST00000307271.3	+	2	789	c.215C>T	c.(214-216)tCa>tTa	p.S72L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	72						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTTTTCTCCTCAATAGCTTGT	0.493													26	140					0	0	0	0	T	150164001	C	T	150164001	3	4	186	1	0	0	0	0	1	0	0	0	6436	838	29	2	217	2	GIMAP8	7	150164001	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	7703179	150164001	8974662	120	32843											
ATG9B	285973	broad.mit.edu	37	chr7	150713883	150713883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggcaggagagggtgcacGaagaggttggccaggaaggc	11	3	21	6	1	0	2	0	0	0	2	0	6	0	4	1	8	1	3	1	8	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:150713883G>A	ENST00000605938.1	-	10	2390	c.2315C>T	c.(2314-2316)tCg>tTg	p.S772L	ATG9B_ENST00000444312.1_Silent_p.F257F|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Silent_p.F771F	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	39					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGGTGCACGAAGAGGTTGG	0.612													6	21					0	0	0	0	A	150713883	G	A	150713883	3	1	186	1	0	0	0	0	1	0	0	0	1107	1059	37	1	474	1	ATG9B	7	150713883	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	549882	150713883	8424780	121	32844											
DUSP26	78986	broad.mit.edu	37	chr8	33454978	33454978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagaccttgagctactcCgggagaagcgggccataaaa	13	5	13	10	2	0	3	0	1	0	2	1	5	1	3	3	3	3	1	3	3	4	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:33454978C>T	ENST00000256261.4	-	2	573	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	DUSP26_ENST00000523956.1_Missense_Mutation_p.R19Q	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	19						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TGAGCTACTCCGGGAGAAGCG	0.557													9	51					0	0	0	0	T	33454978	C	T	33454978	3	4	186	1	0	0	0	0	1	0	0	0	4859	652	23	1	591	1	DUSP26	8	33454978	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08		33454978	112909044	122	32845											
GPR124	25960	broad.mit.edu	37	chr8	37690552	37690552	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccgaactctggctggcatCacagcctaccagtcctgcct	7	8	8	18	1	2	0	1	0	1	0	3	1	3	0	6	2	4	2	6	2	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:37690552C>G	ENST00000315215.7	+	9	1485	c.1122C>G	c.(1120-1122)atC>atG	p.I374M	GPR124_ENST00000412232.2_Missense_Mutation_p.I374M			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	374					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGCTGGCATCACAGCCTACC	0.667													15	134					0	0	0	0	G	37690552	C	G	37690552	3	3	186	1	0	0	0	0	1	0	0	0	6687	816	29	2	1135	2	GPR124	8	37690552	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	4235574	37690552	108673470	123	32846											
CHRNA6	8973	broad.mit.edu	37	chr8	42611780	42611780	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgatccaatgattagaaGatcaatttcagctttgtcat	12	17	6	6	0	3	4	3	2	0	2	4	4	4	4	1	0	1	1	1	0	4	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:42611780G>C	ENST00000276410.2	-	5	917	c.562C>G	c.(562-564)Ctt>Gtt	p.L188V	CHRNA6_ENST00000534622.1_Missense_Mutation_p.L173V	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	188						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATGATTAGAAGATCAATTTCA	0.363													5	68					0	0	0	0	C	42611780	G	C	42611780	3	2	186	1	0	0	0	0	1	0	0	0	3416	942	33	2	930	2	CHRNA6	8	42611780	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	4921228	42611780	103752242	124	32847											
CHD7	55636	broad.mit.edu	37	chr8	61736506	61736506	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attccatggcgctgtgtagtCattgatgaagcccacaggct	9	11	11	10	1	1	2	1	2	0	0	2	2	2	2	2	2	1	3	2	2	2	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:61736506C>T	ENST00000423902.2	+	13	3788	c.3309C>T	c.(3307-3309)gtC>gtT	p.V1103V	CHD7_ENST00000525508.1_Silent_p.V1103V|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1103	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCTGTGTAGTCATTGATGAAG	0.453													13	118					0	0	0	0	T	61736506	C	T	61736506	2	4	186	1	0	0	0	0	0	0	0	1	3359	813	29	2		2	CHD7	8	61736506	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	19124726	61736506	84627516	125	32848											
VCPIP1	80124	broad.mit.edu	37	chr8	67577807	67577807	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acatttgtgaaggcgattatCcattactgcttttttagcag	10	16	8	7	1	0	1	0	1	0	0	1	2	1	1	1	1	3	2	1	1	4	6			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:67577807C>G	ENST00000310421.4	-	1	1645	c.1387G>C	c.(1387-1389)Gat>Cat	p.D463H		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	463					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AGGCGATTATCCATTACTGCT	0.453													30	233					0	0	0	0	G	67577807	C	G	67577807	3	3	186	1	0	0	0	0	1	0	0	0	17237	855	30	2	2293	2	VCPIP1	8	67577807	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	5841301	67577807	78786215	126	32849											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885717	88885717	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctacctatgaacagcgaCgctgggagcagcacggcaca	13	4	12	12	3	0	1	0	1	0	0	0	3	0	2	1	2	6	5	1	2	4	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:88885717C>T	ENST00000319675.3	-	1	579	c.483G>A	c.(481-483)gcG>gcA	p.A161A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	161								p.A161A(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGAACAGCGACGCTGGGAGCA	0.567													41	61					0	0	0	0	T	88885717	C	T	88885717	2	4	186	1	0	0	0	0	0	0	0	1	4305	523	19	1		1	DCAF4L2	8	88885717	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	21307910	88885717	57478305	127	32850											
OSGIN2	734	broad.mit.edu	37	chr8	90937302	90937302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagctgtatcctgaatatCataaagtctatcatatgatg	16	13	6	6	0	3	2	2	2	1	0	4	2	4	2	1	0	1	2	1	0	9	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:90937302C>T	ENST00000451899.2	+	6	1452	c.1192C>T	c.(1192-1194)Cat>Tat	p.H398Y	OSGIN2_ENST00000297438.2_Missense_Mutation_p.H354Y	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	354					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCCTGAATATCATAAAGTCTA	0.368													15	131					0	0	0	0	T	90937302	C	T	90937302	3	4	186	1	0	0	0	0	1	0	0	0	11361	826	29	2	1214	2	OSGIN2	8	90937302	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	2051585	90937302	55426720	128	32851											
RGS22	26166	broad.mit.edu	37	chr8	100975155	100975155	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttcttggatcttaagaaGaattctctcctgttctaagg	9	17	7	8	0	5	2	0	0	5	2	7	3	6	3	1	2	0	1	1	2	4	7			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:100975155G>C	ENST00000360863.6	-	25	3861	c.3667C>G	c.(3667-3669)Ctt>Gtt	p.L1223V	RGS22_ENST00000523437.1_Missense_Mutation_p.L1211V|RGS22_ENST00000523287.1_Missense_Mutation_p.L1042V	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1223					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.L1223I(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATCTTAAGAAGAATTCTCTCC	0.308													4	35					0	0	0	0	C	100975155	G	C	100975155	3	2	186	1	0	0	0	0	1	0	0	0	13388	942	33	2	139	2	RGS22	8	100975155	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	10037853	100975155	45388867	129	32852											
FAM91A1	157769	broad.mit.edu	37	chr8	124801858	124801858	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctcttggtttaggttcaGagcactggtgaaggagaagc	9	13	13	6	0	2	3	1	1	1	2	3	4	2	3	0	4	2	3	0	4	3	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:124801858G>C	ENST00000334705.7	+	15	1530	c.1284G>C	c.(1282-1284)caG>caC	p.Q428H	FAM91A1_ENST00000521166.1_Missense_Mutation_p.Q428H	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	428										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTTAGGTTCAGAGCACTGGTG	0.333													11	69					0	0	0	0	C	124801858	G	C	124801858	3	2	186	1	0	0	0	0	1	0	0	0	5696	933	33	2	1342	2	FAM91A1	8	124801858	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	23826703	124801858	21562164	130	32853											
COL22A1	169044	broad.mit.edu	37	chr8	139890087	139890087	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggacttgggctctgaggcGatctcctccagctcctcctt	4	11	11	15	2	2	1	0	1	2	0	6	3	5	2	4	3	1	2	4	3	0	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:139890087G>A	ENST00000303045.6	-	3	1010	c.564C>T	c.(562-564)atC>atT	p.I188I	COL22A1_ENST00000435777.1_Silent_p.I188I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	188	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCTCTGAGGCGATCTCCTCCA	0.652										HNSCC(7;0.00092)			6	34					0	0	0	0	A	139890087	G	A	139890087	2	1	186	1	0	0	0	0	0	0	0	1	3711	1048	37	1		1	COL22A1	8	139890087	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	15088229	139890087	6473935	131	32854											
C8orf31	286122	broad.mit.edu	37	chr8	144124445	144124445	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagccacaccagaattcCtgcaattcagtgaggcagct	14	7	9	11	0	1	2	1	1	0	1	2	3	2	2	3	1	3	3	3	1	4	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:144124445C>G	ENST00000395172.1	+	2	379	c.27C>G	c.(25-27)tcC>tcG	p.S9S	C8orf31_ENST00000517653.1_Intron	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	9										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACCAGAATTCCTGCAATTCAG	0.582													11	116					0	0	0	0	G	144124445	C	G	144124445	2	3	186	1	0	0	0	0	0	0	0	1	2444	668	24	4		4	C8orf31	8	144124445	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	4234358	144124445	2239577	132	32855											
C9orf66	157983	broad.mit.edu	37	chr9	214662	214662	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcccgcgctcccttcggccgGaggtcggcggccccgggcag	2	4	17	18	7	0	0	0	0	0	0	3	1	1	1	5	6	0	2	5	6	0	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:214662G>A	ENST00000382387.2	-	1	1231	c.735C>T	c.(733-735)ctC>ctT	p.L245L		NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	245	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCTTCGGCCGGAGGTCGGCGG	0.751													3	4					0	0	0	0	A	214662	G	A	214662	2	1	186	1	0	0	0	0	0	0	0	1	2515	1161	41	2		2	C9orf66	9	214662	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08		214662	140998769	133	32856											
GLDC	2731	broad.mit.edu	37	chr9	6605142	6605142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatacctaccccactctgatGagctctctccacgagttccg	8	11	6	16	2	2	2	0	2	2	0	5	3	4	2	5	0	3	2	5	0	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:6605142G>A	ENST00000321612.6	-	6	1000	c.850C>T	c.(850-852)Cat>Tat	p.H284Y		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	284					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCACTCTGATGAGCTCTCTCC	0.502													12	56					0	0	0	0	A	6605142	G	A	6605142	3	1	186	1	0	0	0	0	1	0	0	0	6484	1290	45	2	2292	2	GLDC	9	6605142	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	6390480	6605142	134608289	134	32857											
ARID3C	138715	broad.mit.edu	37	chr9	34621456	34621456	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtttcaagtaggacctctCagggcaagatgctggaaggg	11	9	14	7	0	2	1	2	0	1	1	3	3	2	3	1	4	1	4	1	4	5	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:34621456C>T	ENST00000378909.2	-	7	1330	c.1238G>A	c.(1237-1239)tGa>tAa	p.*413*		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TAGGACCTCTCAGGGCAAGAT	0.637													3	26					0	0	0	0	T	34621456	C	T	34621456	2	4	186	1	0	0	0	0	0	0	0	1	920	840	29	2		2	ARID3C	9	34621456	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	28016314	34621456	106591975	135	32858											
SIGMAR1	10280	broad.mit.edu	37	chr9	34635701	34635701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcataggagcgaagagtataGaagagggtgaggaagtcctg	14	6	17	4	1	0	4	0	1	0	3	1	7	1	6	1	3	1	2	1	3	6	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:34635701G>C	ENST00000378892.1	-	3	760	c.333C>G	c.(331-333)ttC>ttG	p.F111L	SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000277010.4_Missense_Mutation_p.F200L|SIGMAR1_ENST00000477726.1_Missense_Mutation_p.F169L			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	200					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	GAAGAGTATAGAAGAGGGTGA	0.622													9	34					0	0	0	0	C	34635701	G	C	34635701	3	2	186	1	0	0	0	0	1	0	0	0	14404	933	33	2	75	2	SIGMAR1	9	34635701	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	14245	34635701	106577730	136	32859											
FBXO10	26267	broad.mit.edu	37	chr9	37512610	37512610	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacccgggctgtgatcctCgttgccatggctgtcacctt	4	12	10	15	2	1	1	1	1	0	0	4	1	3	1	5	2	1	3	5	2	0	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:37512610C>T	ENST00000432825.2	-	11	2853	c.2805G>A	c.(2803-2805)acG>acA	p.T935T	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.T460T	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	935						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CTGTGATCCTCGTTGCCATGG	0.607													14	117					0	0	0	0	T	37512610	C	T	37512610	2	4	186	1	0	0	0	0	0	0	0	1	5771	871	31	1		1	FBXO10	9	37512610	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	2876909	37512610	103700821	137	32860											
NAA35	60560	broad.mit.edu	37	chr9	88557141	88557141	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcagtatgccagaaaaaatgGagaaaagcaatacaaactgg	20	6	9	6	0	1	2	1	0	0	2	1	3	1	2	1	2	4	2	1	2	9	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:88557141G>C	ENST00000361671.5	+	2	200	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	NAA35_ENST00000376040.1_Missense_Mutation_p.E23Q	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	23					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AGAAAAAATGGAGAAAAGCAA	0.398													12	77					0	0	0	0	C	88557141	G	C	88557141	3	2	186	1	0	0	0	0	1	0	0	0	10193	1175	41	2	69	2	NAA35	9	88557141	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	51044531	88557141	52656290	138	32861											
NCBP1	4686	broad.mit.edu	37	chr9	100412873	100412873	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taagtcccactggaaggaaaGgaagacttggtaagattctt	14	10	11	6	0	1	2	0	0	1	2	2	5	2	5	1	4	0	1	1	4	5	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:100412873G>C	ENST00000375147.3	+	9	1242	c.986G>C	c.(985-987)aGg>aCg	p.R329T		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	329					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TGGAAGGAAAGGAAGACTTGG	0.378													20	149					0	0	0	0	C	100412873	G	C	100412873	3	2	186	1	0	0	0	0	1	0	0	0	10281	1000	35	4	1020	4	NCBP1	9	100412873	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	11855732	100412873	40800558	139	32862											
RABEPK	10244	broad.mit.edu	37	chr9	127982928	127982928	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatatgtctttgggggcggaGagagaggtgcccagcccgtg	7	9	17	8	2	1	2	0	0	1	2	1	4	1	2	2	4	2	0	2	4	2	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:127982928G>C	ENST00000373538.3	+	5	785	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	RABEPK_ENST00000394125.4_Missense_Mutation_p.E159Q|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000373544.1_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.E108Q	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	159					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGGGGGCGGAGAGAGAGGTGC	0.587													8	60					0	0	0	0	C	127982928	G	C	127982928	3	2	186	1	0	0	0	0	1	0	0	0	13045	943	33	2	489	2	RABEPK	9	127982928	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	27570055	127982928	13230503	140	32863											
NUP214	8021	broad.mit.edu	37	chr9	134014764	134014764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatgggagttgtcgtaGactatacaaaccaagtggaa	13	9	11	8	1	0	1	0	0	0	1	1	3	0	3	2	2	3	2	2	2	6	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:134014764G>T	ENST00000359428.5	+	10	1246	c.1102G>T	c.(1102-1104)Gac>Tac	p.D368Y	RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.D368Y|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.D368Y			P35658	NU214_HUMAN	nucleoporin 214kDa	368					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGTTGTCGTAGACTATACAAA	0.418			T	"DEK, SET, ABL1"	"AML, T-ALL"								10	41					9.31168e-06	9.91668e-06	1	0	T	134014764	G	T	134014764	3	4	186	1	0	0	0	0	1	0	0	0	10833	942	33	2	1140	2	NUP214	9	134014764	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	6031836	134014764	7198667	141	32864											
C9orf163	158055	broad.mit.edu	37	chr9	139379468	139379468	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccagggctcgaccctCtagggtcctccgaaaccctg	7	6	12	16	2	1	0	0	0	1	0	4	3	3	1	5	3	2	1	5	3	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:139379468C>A	ENST00000354376.1	+	1	1522	c.568C>A	c.(568-570)Cta>Ata	p.L190I		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	190							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		GCTCGACCCTCTAGGGTCCTC	0.607											OREG0019617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	17					3.59834e-05	3.82133e-05	1	0	A	139379468	C	A	139379468	3	1	186	1	0	0	0	0	1	0	0	0	2492	912	32	2	570	2	C9orf163	9	139379468	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	5364704	139379468	1833963	142	32865											
TMEM203	94107	broad.mit.edu	37	chr9	140099678	140099678	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcacggacacgatggtggtGaagtaggtgctgagcccgtc	8	7	16	10	4	0	2	0	2	0	0	1	4	0	3	1	4	2	3	1	4	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:140099678G>A	ENST00000343666.5	-	1	412	c.189C>T	c.(187-189)ttC>ttT	p.F63F	TMEM203_ENST00000537254.1_Silent_p.F63F	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	63						integral to membrane				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGATGGTGGTGAAGTAGGTGC	0.617													4	21					0	0	0	0	A	140099678	G	A	140099678	2	1	186	1	0	0	0	0	0	0	0	1	16222	1281	45	2		2	TMEM203	9	140099678	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	720210	140099678	1113753	143	32866											
ABI1	10006	broad.mit.edu	37	chr10	27048143	27048143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtcattgtgccatactggGaaccaggagctgagcccggg	8	8	15	10	1	1	1	1	1	0	0	1	3	1	3	3	4	5	1	3	4	2	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:27048143G>A	ENST00000355394.4	-	9	1152	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ABI1_ENST00000536334.1_Intron|ABI1_ENST00000359188.4_Missense_Mutation_p.S281F|ABI1_ENST00000376166.1_Missense_Mutation_p.S276F|ABI1_ENST00000346832.5_Missense_Mutation_p.S326F|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376138.3_Missense_Mutation_p.S282F|ABI1_ENST00000376139.2_Missense_Mutation_p.S277F|ABI1_ENST00000376134.3_Missense_Mutation_p.S283F|ABI1_ENST00000376140.3_Missense_Mutation_p.S282F|ABI1_ENST00000376170.4_Missense_Mutation_p.S281F|ABI1_ENST00000376142.2_Missense_Mutation_p.S309F|ABI1_ENST00000376160.1_Missense_Mutation_p.S276F			Q8IZP0	ABI1_HUMAN	abl-interactor 1	309	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCATACTGGGAACCAGGAGC	0.483													14	56					0	0	0	0	A	27048143	G	A	27048143	3	1	186	1	0	0	0	0	1	0	0	0	88	1174	41	2	616	2	ABI1	10	27048143	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08		27048143	108486604	144	32867											
DDX21	9188	broad.mit.edu	37	chr10	70737337	70737337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcacttcaaacaatcagctGagaagctgatagaggagaag	16	7	11	7	0	3	4	3	2	0	3	3	6	3	4	0	1	3	2	0	1	5	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:70737337G>A	ENST00000354185.4	+	12	1893	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	599						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ACAATCAGCTGAGAAGCTGAT	0.507													16	117					0	0	0	0	A	70737337	G	A	70737337	3	1	186	1	0	0	0	0	1	0	0	0	4381	1291	45	2	1841	2	DDX21	10	70737337	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	43689194	70737337	64797410	145	32868											
POLR3A	11128	broad.mit.edu	37	chr10	79742546	79742546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacggagcttggatgtgcaGatggaatatctcactgtctc	10	11	11	9	1	2	1	1	0	2	1	4	4	2	4	0	3	2	2	0	3	2	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:79742546G>C	ENST00000372371.3	-	27	3596	c.3459C>G	c.(3457-3459)atC>atG	p.I1153M		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1153					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TGGATGTGCAGATGGAATATC	0.507													7	41					0	0	0	0	C	79742546	G	C	79742546	3	2	186	1	0	0	0	0	1	0	0	0	12300	932	33	2	733	2	POLR3A	10	79742546	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	9005209	79742546	55792201	146	32869											
KIF20B	9585	broad.mit.edu	37	chr10	91505671	91505671	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaggagcagttaaataatCagaaagtggaagaagctata	18	9	11	3	0	1	2	1	0	0	2	1	4	1	4	0	2	2	4	0	2	9	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:91505671C>G	ENST00000416354.1	+	23	4213	c.4141C>G	c.(4141-4143)Cag>Gag	p.Q1381E	KIF20B_ENST00000260753.4_Missense_Mutation_p.Q1311E|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.Q1351E|KIF20B_ENST00000371728.3_Missense_Mutation_p.Q1351E			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1351					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GTTAAATAATCAGAAAGTGGA	0.338													3	30					0	0	0	0	G	91505671	C	G	91505671	3	3	186	1	0	0	0	0	1	0	0	0	8338	827	29	2	4017	2	KIF20B	10	91505671	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	11763125	91505671	44029076	147	32870											
PKD2L1	9033	broad.mit.edu	37	chr10	102048203	102048203	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgggagagtctcctctcctCtaaggcttcctcttctcttt	5	15	7	14	1	5	1	0	0	5	1	9	2	6	1	3	2	0	1	3	2	1	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:102048203C>G	ENST00000353274.3	-	15	2665	c.2283G>C	c.(2281-2283)taG>taC	p.*761Y	PKD2L1_ENST00000318222.3_Missense_Mutation_p.E790Q|PKD2L1_ENST00000338519.3_Missense_Mutation_p.E715Q			Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	0					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTCCTCTCCTCTAAGGCTTCC	0.488													24	132					0	0	0	0	G	102048203	C	G	102048203	4	3	186	1	0	0	0	0	0	0	0	0	12039	922	32	2	53	2	PKD2L1	10	102048203	Nonstop_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	10542532	102048203	33486544	148	32871											
DPCD	25911	broad.mit.edu	37	chr10	103360965	103360965	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgccttctgcagcctatCttcatgcgcaaggacaccaa	10	11	7	13	1	3	0	1	0	2	0	3	1	3	1	3	1	4	2	3	1	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:103360965C>G	ENST00000370151.4	+	4	325	c.276C>G	c.(274-276)atC>atG	p.I92M	DPCD_ENST00000370148.2_Missense_Mutation_p.I92M|DPCD_ENST00000370147.1_Missense_Mutation_p.I92M	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	92							protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						TGCAGCCTATCTTCATGCGCA	0.552													10	72					0	0	0	0	G	103360965	C	G	103360965	3	3	186	1	0	0	0	0	1	0	0	0	4747	903	32	2	290	2	DPCD	10	103360965	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1312762	103360965	32173782	149	32872											
LDB1	8861	broad.mit.edu	37	chr10	103871248	103871248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaaggcgttgccgttcGggggctccttcggcgagtac	5	8	18	10	5	0	0	0	0	0	0	3	2	1	1	2	6	2	4	2	6	2	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:103871248G>A	ENST00000425280.1	-	2	413	c.71C>T	c.(70-72)cCg>cTg	p.P24L	LDB1_ENST00000361198.5_5'UTR|LDB1_ENST00000490751.1_5'UTR	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	24					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTTGCCGTTCGGGGGCTCCTT	0.557													7	34					0	0	0	0	A	103871248	G	A	103871248	3	1	186	1	0	0	0	0	1	0	0	0	8748	1116	39	1	1204	1	LDB1	10	103871248	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	510283	103871248	31663499	150	32873											
AFAP1L2	84632	broad.mit.edu	37	chr10	116057054	116057054	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccctgcctcagccttcttCaggttgtccttcacctccat	4	13	7	17	0	4	0	3	0	1	0	6	0	6	0	6	2	2	1	6	2	0	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:116057054C>G	ENST00000369271.3	-	17	2532	c.2232G>C	c.(2230-2232)ctG>ctC	p.L744L	AFAP1L2_ENST00000304129.4_Silent_p.L744L|AFAP1L2_ENST00000545353.1_Silent_p.L797L|AFAP1L2_ENST00000491814.1_5'UTR	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	744					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CAGCCTTCTTCAGGTTGTCCT	0.627													6	34					0	0	0	0	G	116057054	C	G	116057054	2	3	186	1	0	0	0	0	0	0	0	1	355	813	29	2		2	AFAP1L2	10	116057054	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	12185806	116057054	19477693	151	32874											
INPP5F	22876	broad.mit.edu	37	chr10	121556365	121556365	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaggagtccacctgtgtaGatgatattcacccacgattt	10	12	8	11	1	2	2	2	1	0	1	3	4	3	3	3	1	0	1	3	1	2	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:121556365G>C	ENST00000361976.2	+	7	974	c.808G>C	c.(808-810)Gat>Cat	p.D270H	INPP5F_ENST00000369083.3_Missense_Mutation_p.D270H	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	270	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CACCTGTGTAGATGATATTCA	0.468													4	60					0	0	0	0	C	121556365	G	C	121556365	3	2	186	1	0	0	0	0	1	0	0	0	7811	942	33	2	834	2	INPP5F	10	121556365	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	5499311	121556365	13978382	152	32875											
C10orf137	26098	broad.mit.edu	37	chr10	127429586	127429586	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagatacttattgctgcctCtgcaccaatatgctttccga	10	13	6	12	1	1	1	0	0	1	1	2	2	2	1	3	0	5	3	3	0	4	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:127429586C>G	ENST00000337623.3	+	16	2190	c.2085C>G	c.(2083-2085)ctC>ctG	p.L695L	C10orf137_ENST00000356792.4_Silent_p.L729L	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTGCTGCCTCTGCACCAATA	0.363													29	103					0	0	0	0	G	127429586	C	G	127429586	2	3	186	1	0	0	0	0	0	0	0	1	1604	900	32	2		2	C10orf137	10	127429586	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	5873221	127429586	8105161	153	32876											
MGMT	4255	broad.mit.edu	37	chr10	131557595	131557595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagtgggaggagcaatgaGaggcaatcctgtgagttctc	11	8	15	7	0	1	2	0	2	1	1	3	5	2	4	1	3	2	4	1	3	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:131557595G>A	ENST00000306010.7	+	4	529	c.497G>A	c.(496-498)aGa>aAa	p.R166K		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	166										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GGAGCAATGAGAGGCAATCCT	0.577								Direct reversal of damage					11	46					0	0	0	0	A	131557595	G	A	131557595	3	1	186	1	0	0	0	0	1	0	0	0	9626	942	33	2	511	2	MGMT	10	131557595	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	4128009	131557595	3977152	154	32877											
PHRF1	57661	broad.mit.edu	37	chr11	609574	609574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggaaggaagacagcccctCtgcgagtgggagggtacagg	10	4	19	8	1	1	1	0	0	1	1	1	5	1	4	2	6	3	1	2	6	3	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:609574C>G	ENST00000264555.5	+	14	4246	c.4118C>G	c.(4117-4119)tCt>tGt	p.S1373C	PHRF1_ENST00000413872.2_Missense_Mutation_p.S1371C|PHRF1_ENST00000533464.1_Missense_Mutation_p.S1369C|PHRF1_ENST00000416188.2_Missense_Mutation_p.S1372C	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1373							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GACAGCCCCTCTGCGAGTGGG	0.682													3	13					0	0	0	0	G	609574	C	G	609574	3	3	186	1	0	0	0	0	1	0	0	0	11933	913	32	2	4165	2	PHRF1	11	609574	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08		609574	134396942	155	32878											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629200	1629200	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaggatgacccacagcctGaggagcagcagcagggctta	12	4	14	11	0	0	2	0	2	0	0	0	4	0	4	2	3	5	5	2	3	1	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:1629200G>C	ENST00000399685.1	-	1	493	c.416C>G	c.(415-417)tCa>tGa	p.S139*		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	139	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCCACAGCCTGAGGAGCAGCA	0.627													26	156					0	0	0	0	C	1629200	G	C	1629200	4	2	186	1	0	0	0	0	0	1	0	0	8615	1294	45	2	304	2	KRTAP5-3	11	1629200	Nonsense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1019626	1629200	133377316	156	32879											
TNNT3	7140	broad.mit.edu	37	chr11	1956113	1956113	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagctggagattgacaagttCgagtttggggagaagctgaa	12	9	15	5	1	0	4	0	2	0	2	1	7	0	4	0	3	2	4	0	3	3	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:1956113C>G	ENST00000381558.1	+	13	900	c.621C>G	c.(619-621)ttC>ttG	p.F207L	TNNT3_ENST00000381579.3_Missense_Mutation_p.F207L|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000446240.1_Missense_Mutation_p.F196L|TNNT3_ENST00000360603.3_Missense_Mutation_p.F209L|TNNT3_ENST00000381548.3_Missense_Mutation_p.F217L|TNNT3_ENST00000278317.6_Missense_Mutation_p.F215L|TNNT3_ENST00000397301.1_Missense_Mutation_p.F226L|TNNT3_ENST00000381561.4_Missense_Mutation_p.F218L|TNNT3_ENST00000381549.3_Missense_Mutation_p.F207L|TNNT3_ENST00000397304.2_Missense_Mutation_p.F196L|TNNT3_ENST00000381589.3_Missense_Mutation_p.F213L			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	226					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		TTGACAAGTTCGAGTTTGGGG	0.597													33	134					0	0	0	0	G	1956113	C	G	1956113	3	3	186	1	0	0	0	0	1	0	0	0	16426	883	31	3	736	3	TNNT3	11	1956113	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	326913	1956113	133050403	157	32880											
OR6A2	8590	broad.mit.edu	37	chr11	6816674	6816674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgtccatgatcctgtttgGatccaacaaagccagcaagc	11	9	9	12	0	0	1	0	1	0	0	3	2	3	2	4	1	4	3	4	1	3	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:6816674G>A	ENST00000332601.3	-	1	454	c.266C>T	c.(265-267)tCc>tTc	p.S89F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATCCTGTTTGGATCCAACAAA	0.458													12	62					0	0	0	0	A	6816674	G	A	6816674	3	1	186	1	0	0	0	0	1	0	0	0	11257	1174	41	2	721	2	OR6A2	11	6816674	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	4860561	6816674	128189842	158	32881											
HIPK3	10114	broad.mit.edu	37	chr11	33363124	33363124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggcattgaccacatctGctcattcagttgtgcaccat	9	13	7	12	0	4	1	3	1	1	0	4	1	4	1	2	1	2	4	2	1	0	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:33363124G>A	ENST00000303296.4	+	8	2094	c.1789G>A	c.(1789-1791)Gct>Act	p.A597T	HIPK3_ENST00000456517.1_Missense_Mutation_p.A597T|HIPK3_ENST00000379016.3_Missense_Mutation_p.A597T|HIPK3_ENST00000525975.1_Missense_Mutation_p.A597T	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	597					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GACCACATCTGCTCATTCAGT	0.413													39	318					0	0	0	0	A	33363124	G	A	33363124	3	1	186	1	0	0	0	0	1	0	0	0	7168	1319	46	4	1815	4	HIPK3	11	33363124	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	26546450	33363124	101643392	159	32882											
PDHX	8050	broad.mit.edu	37	chr11	34982054	34982054	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccactggccctcgggggatAttcactaaagagtatgtgtt	9	11	12	9	1	1	1	1	0	0	1	2	2	1	2	2	3	0	2	2	3	4	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:34982054A>G	ENST00000448838.3	+	5	827	c.585A>G	c.(583-585)atA>atG	p.I195M	PDHX_ENST00000227868.4_Missense_Mutation_p.I210M|PDHX_ENST00000430469.2_Intron	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	210	Interaction with DLD.				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CTCGGGGGATATTCACTAAAG	0.378													8	125					0	0	0	0	G	34982054	A	G	34982054	3	3	186	1	0	0	0	0	1	0	0	0	11738	439	16	5	767	5	PDHX	11	34982054	Missense_Mutation	SNP	A	TCGA-CR-6484-01A-11D-1870-08	1618930	34982054	100024462	160	32883											
LDLRAD3	143458	broad.mit.edu	37	chr11	36250750	36250750	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccaccgccctactcttctGacacggaatctctgaaccaa	10	9	5	17	2	3	2	0	2	3	0	5	3	4	3	4	1	2	0	4	1	4	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:36250750G>C	ENST00000315571.5	+	6	862	c.841G>C	c.(841-843)Gac>Cac	p.D281H	LDLRAD3_ENST00000524419.1_Missense_Mutation_p.D271H|LDLRAD3_ENST00000528989.1_Missense_Mutation_p.D232H	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	281						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CTACTCTTCTGACACGGAATC	0.627													32	1322					0	0	0	0	C	36250750	G	C	36250750	3	2	186	1	0	0	0	0	1	0	0	0	8760	1290	45	2	863	2	LDLRAD3	11	36250750	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1268696	36250750	98755766	161	32884											
COMMD9	29099	broad.mit.edu	37	chr11	36300091	36300091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggaaattttctggaaagaGagccagaattgcctcggcag	12	9	13	7	1	1	2	0	0	1	2	2	5	1	4	2	3	2	1	2	3	3	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:36300091G>A	ENST00000263401.5	-	3	269	c.253C>T	c.(253-255)Ctc>Ttc	p.L85F	COMMD9_ENST00000532705.1_Missense_Mutation_p.L85F|COMMD9_ENST00000452374.2_Missense_Mutation_p.L43F	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	85										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				TCTGGAAAGAGAGCCAGAATT	0.483													11	350					0	0	0	0	A	36300091	G	A	36300091	3	1	186	1	0	0	0	0	1	0	0	0	3753	942	33	2	359	2	COMMD9	11	36300091	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	49341	36300091	98706425	162	32885											
ARFGAP2	84364	broad.mit.edu	37	chr11	47189775	47189775	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgctcaatcacctgcatCtcagacagcacggagtggga	10	8	10	13	1	3	1	3	0	1	1	5	3	4	3	2	2	3	3	2	2	1	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:47189775C>G	ENST00000524782.1	-	11	1197	c.969G>C	c.(967-969)gaG>gaC	p.E323D	ARFGAP2_ENST00000419701.2_Missense_Mutation_p.E216D|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.E54D|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.E187D|ARFGAP2_ENST00000395449.3_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	323	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCACCTGCATCTCAGACAGCA	0.552													8	55					0	0	0	0	G	47189775	C	G	47189775	3	3	186	1	0	0	0	0	1	0	0	0	852	912	32	2	620	2	ARFGAP2	11	47189775	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	10889684	47189775	87816741	163	32886											
MADD	8567	broad.mit.edu	37	chr11	47295502	47295502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttctgtcctcggttacttGactatctagtgatcgtaggg	7	15	11	8	2	2	2	0	2	2	0	5	2	3	2	1	2	1	3	1	2	4	6			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:47295502G>C	ENST00000342922.4	+	2	394	c.37G>C	c.(37-39)Gac>Cac	p.D13H	MADD_ENST00000402799.1_Missense_Mutation_p.D13H|MADD_ENST00000349238.3_Missense_Mutation_p.D13H|MADD_ENST00000311027.5_Missense_Mutation_p.D13H|MADD_ENST00000402192.2_Missense_Mutation_p.D13H|MADD_ENST00000406482.1_Missense_Mutation_p.D13H|MADD_ENST00000395336.3_Missense_Mutation_p.D13H|MADD_ENST00000395344.3_Missense_Mutation_p.D13H|MADD_ENST00000407859.3_Missense_Mutation_p.D13H	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	13					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCGGTTACTTGACTATCTAGT	0.443													8	37					0	0	0	0	C	47295502	G	C	47295502	3	2	186	1	0	0	0	0	1	0	0	0	9217	1290	45	2	39	2	MADD	11	47295502	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	105727	47295502	87711014	164	32887											
OR8K5	219453	broad.mit.edu	37	chr11	55927105	55927105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttttcctgccctctgcaGaatgcatttgacatatagct	8	15	6	12	0	1	2	0	1	1	1	2	2	2	2	3	0	4	3	3	0	3	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:55927105G>A	ENST00000313447.1	-	1	688	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GCCCTCTGCAGAATGCATTTG	0.398													8	40					0	0	0	0	A	55927105	G	A	55927105	3	1	186	1	0	0	0	0	1	0	0	0	11316	942	33	2	237	2	OR8K5	11	55927105	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	8631603	55927105	79079411	165	32888											
LRRC55	219527	broad.mit.edu	37	chr11	56954823	56954823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccacctgaccctgaccctgGatgattacctattcattgcg	8	11	8	14	1	1	3	1	3	0	0	1	4	1	4	5	1	2	0	5	1	2	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:56954823G>A	ENST00000497933.1	+	2	1042	c.895G>A	c.(895-897)Gat>Aat	p.D299N		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	269						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCTGACCCTGGATGATTACCT	0.607													9	77					0	0	0	0	A	56954823	G	A	56954823	3	1	186	1	0	0	0	0	1	0	0	0	9075	1174	41	2	901	2	LRRC55	11	56954823	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1027718	56954823	78051693	166	32889											
FAM111A	63901	broad.mit.edu	37	chr11	58920371	58920371	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attggtcaatgtgtaagggtGacatttggttatgaagagct	11	14	13	3	0	1	3	1	2	0	1	1	3	1	3	0	3	1	3	0	3	4	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:58920371G>A	ENST00000528737.1	+	5	4048	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	FAM111A_ENST00000531147.1_Silent_p.V410V|FAM111A_ENST00000533703.1_Silent_p.V410V|FAM111A_ENST00000420244.1_Silent_p.V410V|FAM111A_ENST00000361723.3_Silent_p.V410V			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	410					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GTGTAAGGGTGACATTTGGTT	0.383													14	80					0	0	0	0	A	58920371	G	A	58920371	2	1	186	1	0	0	0	0	0	0	0	1	5440	1277	45	2		2	FAM111A	11	58920371	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1965548	58920371	76086145	167	32890											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810464	65810464	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcgcgagctggcggcGcgcgcgttgagcttggcgta	4	6	19	12	8	0	1	0	1	0	0	0	2	0	1	1	4	2	4	1	4	1	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:65810464G>A	ENST00000312006.4	-	3	1091	c.810C>T	c.(808-810)cgC>cgT	p.R270R	GAL3ST3_ENST00000527878.1_Silent_p.R270R	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	270					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGCTGGCGGCGCGCGCGTTGA	0.711													4	17					0	0	0	0	A	65810464	G	A	65810464	2	1	186	1	0	0	0	0	0	0	0	1	6248	1074	38	1		1	GAL3ST3	11	65810464	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	6890093	65810464	69196052	168	32891											
RIN1	9610	broad.mit.edu	37	chr11	66102285	66102285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggctcccccgggaccCtggcaccccctcctcctcgg	2	6	11	22	3	0	0	0	0	0	0	4	1	3	1	7	4	0	3	7	4	0	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:66102285C>A	ENST00000311320.4	-	6	1111	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W	RIN1_ENST00000530056.1_Missense_Mutation_p.G224W|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.G224W	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	329	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CCCCGGGACCCTGGCACCCCC	0.721													2	2					0.0016	0.00165714	1	0	A	66102285	C	A	66102285	3	1	186	1	0	0	0	0	1	0	0	0	13456	681	24	4	1386	4	RIN1	11	66102285	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	291821	66102285	68904231	169	32892											
CARNS1	57571	broad.mit.edu	37	chr11	67191490	67191490	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaatggccctacgaggctGcctggcttcactgagacggc	8	7	13	13	2	1	1	1	1	0	1	1	4	1	1	2	4	2	2	2	4	2	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:67191490G>C	ENST00000445895.2	+	9	2385	c.2271G>C	c.(2269-2271)ctG>ctC	p.L757L	CARNS1_ENST00000307823.3_Silent_p.L634L|CARNS1_ENST00000531040.1_Silent_p.L731L|CARNS1_ENST00000423745.2_Silent_p.L634L			A5YM72	CRNS1_HUMAN	carnosine synthase 1	634					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CTACGAGGCTGCCTGGCTTCA	0.642													5	20					0	0	0	0	C	67191490	G	C	67191490	2	2	186	1	0	0	0	0	0	0	0	1	2681	1306	46	4		4	CARNS1	11	67191490	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1089205	67191490	67815026	170	32893											
PPFIA1	8500	broad.mit.edu	37	chr11	70218613	70218613	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgtggaattatgtgcctGagaaggttaaattatgaccg	12	12	12	5	1	0	2	0	2	0	1	0	4	0	3	2	2	1	1	2	2	6	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:70218613G>C	ENST00000253925.7	+	23	3287	c.3072G>C	c.(3070-3072)ctG>ctC	p.L1024L	AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR|PPFIA1_ENST00000389547.3_Silent_p.L1024L	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1024	SAM 2.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTATGTGCCTGAGAAGGTTAA	0.328													7	45					0	0	0	0	C	70218613	G	C	70218613	2	2	186	1	0	0	0	0	0	0	0	1	12380	1277	45	2		2	PPFIA1	11	70218613	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	3027123	70218613	64787903	171	32894											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238404	71238404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgggggctgtggctccGgctgtgggggctgtggctct	0	11	21	9	1	1	0	0	0	1	0	2	0	2	0	1	7	0	6	1	7	0	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:71238404G>T	ENST00000398536.4	+	1	92	c.58G>T	c.(58-60)Ggc>Tgc	p.G20C		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	20						keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CTGTGGCTCCGGCTGTGGGGG	0.657													4	173					0.150653	0.151862	1	0	T	71238404	G	T	71238404	3	4	186	1	0	0	0	0	1	0	0	0	8619	1116	39	3	60	3	KRTAP5-7	11	71238404	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1019791	71238404	63768112	172	32895											
ARHGEF17	9828	broad.mit.edu	37	chr11	73074301	73074301	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggcagagaccaccagctcaGaggaggagcaggagccaggc	12	1	16	12	1	1	2	1	0	0	2	1	6	1	5	3	5	3	3	3	5	0	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:73074301G>C	ENST00000263674.3	+	15	5397	c.5047G>C	c.(5047-5049)Gag>Cag	p.E1683Q		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1683					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CACCAGCTCAGAGGAGGAGCA	0.637													3	14					0	0	0	0	C	73074301	G	C	73074301	3	2	186	1	0	0	0	0	1	0	0	0	902	943	33	2	5105	2	ARHGEF17	11	73074301	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1835897	73074301	61932215	173	32896											
ARHGEF17	9828	broad.mit.edu	37	chr11	73074384	73074384	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcaccagcccaatggatggGagagcccttcgccgctccag	8	5	13	15	2	0	1	0	0	0	1	2	3	1	2	5	3	2	2	5	3	1	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:73074384G>C	ENST00000263674.3	+	15	5480	c.5130G>C	c.(5128-5130)ggG>ggC	p.G1710G		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1710					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAATGGATGGGAGAGCCCTTC	0.667													3	14					0	0	0	0	C	73074384	G	C	73074384	2	2	186	1	0	0	0	0	0	0	0	1	902	1161	41	2		2	ARHGEF17	11	73074384	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	83	73074384	61932132	174	32897											
FDX1	2230	broad.mit.edu	37	chr11	110327657	110327657	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcaggtgcatgtgagggaaCcctggcttgttcaacctgtc	7	11	13	10	0	2	1	2	1	0	0	3	2	2	2	2	3	3	3	2	3	2	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:110327657C>G	ENST00000260270.2	+	3	564	c.326C>G	c.(325-327)aCc>aGc	p.T109S		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	109	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	TGTGAGGGAACCCTGGCTTGT	0.418													27	144					0	0	0	0	G	110327657	C	G	110327657	3	3	186	1	0	0	0	0	1	0	0	0	5849	507	18	4	336	4	FDX1	11	110327657	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	37253273	110327657	24678859	175	32898											
DIXDC1	85458	broad.mit.edu	37	chr11	111844775	111844775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggaaacctgaagtctatCatgaggctggtccttgcctt	9	12	11	9	0	2	2	1	2	1	0	3	4	3	3	3	3	2	1	3	3	3	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:111844775C>T	ENST00000440460.2	+	4	642	c.345C>T	c.(343-345)atC>atT	p.I115I	DIXDC1_ENST00000531396.1_Silent_p.I115I|DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000529225.1_Silent_p.I114I	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	115	CH.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TGAAGTCTATCATGAGGCTGG	0.512													8	37					0	0	0	0	T	111844775	C	T	111844775	2	4	186	1	0	0	0	0	0	0	0	1	4578	816	29	2		2	DIXDC1	11	111844775	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1517118	111844775	23161741	176	32899											
DIXDC1	85458	broad.mit.edu	37	chr11	111889689	111889689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttctctagattttccatGatgatgatgccatccctgga	8	17	7	9	0	1	4	0	3	1	1	4	5	3	5	3	1	1	0	3	1	1	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:111889689G>A	ENST00000440460.2	+	21	2275	c.1978G>A	c.(1978-1980)Gat>Aat	p.D660N	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.D449N	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	661	DIX.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GATTTTCCATGATGATGATGC	0.388													10	77					0	0	0	0	A	111889689	G	A	111889689	3	1	186	1	0	0	0	0	1	0	0	0	4578	1290	45	2	2085	2	DIXDC1	11	111889689	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	44914	111889689	23116827	177	32900											
BSX	390259	broad.mit.edu	37	chr11	122848536	122848536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgtctggtgctttgggttCgtcttggcttttccgcagtt	1	17	12	11	3	2	0	0	0	2	0	4	0	3	0	2	3	1	5	2	3	0	6			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:122848536C>T	ENST00000343035.2	-	3	571	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	175										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCTTTGGGTTCGTCTTGGCTT	0.592													14	47					0	0	0	0	T	122848536	C	T	122848536	3	4	186	1	0	0	0	0	1	0	0	0	1543	893	31	1	181	1	BSX	11	122848536	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	10958847	122848536	12157980	178	32901											
KCNJ5	3762	broad.mit.edu	37	chr11	128781747	128781747	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcaagatcagccagccCaagaagagagcggagaccct	13	6	11	11	1	2	4	2	0	0	4	2	6	2	4	3	1	3	0	3	1	3	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:128781747C>G	ENST00000529694.1	+	2	955	c.579C>G	c.(577-579)ccC>ccG	p.P193P	KCNJ5_ENST00000533599.1_Silent_p.P193P|KCNJ5_ENST00000338350.4_Silent_p.P193P	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	193					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TCAGCCAGCCCAAGAAGAGAG	0.562													14	97					0	0	0	0	G	128781747	C	G	128781747	2	3	186	1	0	0	0	0	0	0	0	1	8107	581	21	4		4	KCNJ5	11	128781747	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	5933211	128781747	6224769	179	32902											
KCNA6	3742	broad.mit.edu	37	chr12	4919508	4919508	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccatcctctactactacCagtctgggggccgcctgcgg	6	8	11	16	3	2	0	0	0	2	0	3	0	3	0	5	3	4	0	5	3	3	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:4919508C>T	ENST00000433855.1	+	1	1167	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	KCNA6_ENST00000280684.3_Nonsense_Mutation_p.Q101*	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	101						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CTACTACTACCAGTCTGGGGG	0.657										HNSCC(72;0.22)			17	69					0	0	0	0	T	4919508	C	T	4919508	4	4	186	1	0	0	0	0	0	1	0	0	8060	595	21	4	303	4	KCNA6	12	4919508	Nonsense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08		4919508	128932387	180	32903											
SPSB2	84727	broad.mit.edu	37	chr12	6980429	6980429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggccgagccgggtatccCccaggttgtggcgcacacac	6	6	13	16	3	0	0	0	0	0	0	1	1	1	0	5	4	1	3	5	4	1	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:6980429C>T	ENST00000524270.1	-	3	905	c.719G>A	c.(718-720)gGg>gAg	p.G240E	SPSB2_ENST00000523102.1_Missense_Mutation_p.G240E	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	240	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCGGGTATCCCCCAGGTTGTG	0.627													6	25					0	0	0	0	T	6980429	C	T	6980429	3	4	186	1	0	0	0	0	1	0	0	0	15203	623	22	4	76	4	SPSB2	12	6980429	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	2060921	6980429	126871466	181	32904											
LRP6	4040	broad.mit.edu	37	chr12	12274061	12274061	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggaggagggcccctcctCaggaggagtctgtacaggga	10	5	17	9	0	2	1	1	0	1	1	3	6	3	6	3	6	1	1	3	6	1	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:12274061C>G	ENST00000261349.4	-	23	4917	c.4841G>C	c.(4840-4842)tGa>tCa	p.*1614S	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Nonstop_Mutation_p.*1569S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	0					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGCCCCTCCTCAGGAGGAGTC	0.517													5	24					0	0	0	0	G	12274061	C	G	12274061	4	3	186	1	0	0	0	0	0	0	0	0	9026	837	29	2	4	2	LRP6	12	12274061	Nonstop_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	5293632	12274061	121577834	182	32905											
ATF7IP	55729	broad.mit.edu	37	chr12	14589102	14589102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaatgtacagtctaaacgtCgtcgatatatggaagaagaa	17	9	9	6	3	1	2	0	0	1	2	3	4	1	3	0	1	2	1	0	1	9	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:14589102C>T	ENST00000544627.1	+	4	2052	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.R569C|ATF7IP_ENST00000261168.4_Missense_Mutation_p.R570C|ATF7IP_ENST00000540793.1_Missense_Mutation_p.R570C|ATF7IP_ENST00000543189.1_Missense_Mutation_p.R569C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	570	Glu-rich.|Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTCTAAACGTCGTCGATATAT	0.353													24	67					0	0	0	0	T	14589102	C	T	14589102	3	4	186	1	0	0	0	0	1	0	0	0	1091	884	31	1	1718	1	ATF7IP	12	14589102	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	2315041	14589102	119262793	183	32906											
WNT1	7471	broad.mit.edu	37	chr12	49373291	49373291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccacgaacctgcttacaGactccaagagtctgcaactg	11	8	7	15	1	1	2	0	0	1	2	3	3	3	2	4	0	5	2	4	0	4	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:49373291G>A	ENST00000293549.3	+	2	181	c.145G>A	c.(145-147)Gac>Aac	p.D49N		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	49					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CCTGCTTACAGACTCCAAGAG	0.557													19	101					0	0	0	0	A	49373291	G	A	49373291	3	1	186	1	0	0	0	0	1	0	0	0	17477	942	33	2	151	2	WNT1	12	49373291	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	34784189	49373291	84478604	184	32907											
RHEBL1	121268	broad.mit.edu	37	chr12	49462888	49462888	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgatgtgccaaagatgtcttCcctgtggggagcagtgtgac	8	11	14	8	0	1	3	0	2	1	1	2	4	2	4	2	2	2	1	2	2	1	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:49462888C>T	ENST00000301068.6	-	2	293	c.52_splice	c.e2-1	p.G18_splice		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	18					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|large_intestine(2)|lung(5)	9						AAGATGTCTTCCCTGTGGGGA	0.502													26	69					0	0	0	0	T	49462888	C	T	49462888	5	4	186	1	0	0	0	0	0	0	1	0	13412	869	30	2	525	2	RHEBL1	12	49462888	Splice_Site	SNP	C	TCGA-CR-6484-01A-11D-1870-08	89597	49462888	84389007	185	32908											
KCNH3	23416	broad.mit.edu	37	chr12	49943272	49943272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgacggccatcatccagcGcatgtacgcccgccgctttc	6	8	10	17	6	1	1	1	1	0	0	3	1	2	1	4	1	2	3	4	1	1	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:49943272G>A	ENST00000257981.6	+	9	1777	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	506					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ATCATCCAGCGCATGTACGCC	0.667													10	49					0	0	0	0	A	49943272	G	A	49943272	3	1	186	1	0	0	0	0	1	0	0	0	8086	1087	38	1	1551	1	KCNH3	12	49943272	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	480384	49943272	83908623	186	32909											
DIP2B	57609	broad.mit.edu	37	chr12	51138607	51138607	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttagaccccatctacgtGgcttataacatgtaaccagc	12	10	7	12	1	1	1	0	0	1	1	1	1	1	1	3	1	4	3	3	1	5	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:51138607G>A	ENST00000301180.5	+	38	4750	c.4716G>A	c.(4714-4716)gtG>gtA	p.V1572V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1572						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCATCTACGTGGCTTATAACA	0.517													20	62					0	0	0	0	A	51138607	G	A	51138607	2	1	186	1	0	0	0	0	0	0	0	1	4565	1335	47	4		4	DIP2B	12	51138607	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1195335	51138607	82713288	187	32910											
NR4A1	3164	broad.mit.edu	37	chr12	52448880	52448880	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgacctcaaccaaggcccgGagcggggccccaggtggaag	9	3	16	13	2	1	1	1	1	0	0	1	3	1	3	5	6	2	0	5	6	3	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:52448880G>C	ENST00000545748.1	+	3	1925	c.930G>C	c.(928-930)cgG>cgC	p.R310R	NR4A1_ENST00000394825.1_Silent_p.R256R|NR4A1_ENST00000550082.1_Silent_p.R269R|NR4A1_ENST00000394824.2_Silent_p.R256R|NR4A1_ENST00000243050.1_Silent_p.R256R|NR4A1_ENST00000548232.1_Silent_p.R256R|NR4A1_ENST00000360284.3_Silent_p.R269R			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	256					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCAAGGCCCGGAGCGGGGCCC	0.612													13	117					0	0	0	0	C	52448880	G	C	52448880	2	2	186	1	0	0	0	0	0	0	0	1	10703	1161	41	2		2	NR4A1	12	52448880	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1310273	52448880	81403015	188	32911											
AAAS	8086	broad.mit.edu	37	chr12	53709522	53709522	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatacttaccctcttcttctGagtttgcaatttcatttagc	9	18	4	10	0	4	1	1	1	3	0	4	1	4	1	1	0	4	2	1	0	5	8			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:53709522G>C	ENST00000209873.4	-	3	461	c.296C>G	c.(295-297)tCa>tGa	p.S99*	AAAS_ENST00000550286.1_Missense_Mutation_p.Q6E|AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Nonsense_Mutation_p.S99*	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	99					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CTCTTCTTCTGAGTTTGCAAT	0.483													9	16					0	0	0	0	C	53709522	G	C	53709522	4	2	186	1	0	0	0	0	0	1	0	0	8	1294	45	2	1400	2	AAAS	12	53709522	Nonsense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1260642	53709522	80142373	189	32912											
MAP3K12	7786	broad.mit.edu	37	chr12	53876597	53876597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggaggtggtgagccaggatCcccagctccgcctgtggccc	5	6	15	15	2	0	1	0	1	0	0	2	3	2	3	6	5	2	1	6	5	0	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:53876597C>T	ENST00000267079.2	-	12	2116	c.1891G>A	c.(1891-1893)Gat>Aat	p.D631N	MAP3K12_ENST00000547488.1_Missense_Mutation_p.D664N|MAP3K12_ENST00000547035.1_Missense_Mutation_p.D664N	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	631					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GAGCCAGGATCCCCAGCTCCG	0.667													16	41					0	0	0	0	T	53876597	C	T	53876597	3	4	186	1	0	0	0	0	1	0	0	0	9315	855	30	2	704	2	MAP3K12	12	53876597	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	167075	53876597	79975298	190	32913											
MYL6B	140465	broad.mit.edu	37	chr12	56547847	56547847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggcccctcagaaaacccagGagcctccagtcgatctctcc	10	6	8	17	1	2	1	1	0	1	1	6	3	4	2	6	2	2	0	6	2	2	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:56547847G>A	ENST00000553066.1	+	2	567	c.145G>A	c.(145-147)Gag>Aag	p.E49K	MYL6B_ENST00000552568.1_Missense_Mutation_p.E49K|MYL6B_ENST00000207437.5_Missense_Mutation_p.E49K|MYL6B_ENST00000550152.1_3'UTR|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550443.1_Missense_Mutation_p.E49K			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	49					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GAAAACCCAGGAGCCTCCAGT	0.572													3	28					0	0	0	0	A	56547847	G	A	56547847	3	1	186	1	0	0	0	0	1	0	0	0	10122	1175	41	2	147	2	MYL6B	12	56547847	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	2671250	56547847	77304048	191	32914			1	48		3	3	1129	G		6.448899e-05
MYL6B	140465	broad.mit.edu	37	chr12	56548600	56548600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttttttcttccacagatcGagtttaacaaggaccagctg	10	13	8	10	1	1	1	0	0	1	1	3	3	2	2	2	1	2	3	2	1	2	6			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:56548600G>A	ENST00000553066.1	+	3	600	c.178G>A	c.(178-180)Gag>Aag	p.E60K	MYL6B_ENST00000552568.1_Missense_Mutation_p.E60K|MYL6B_ENST00000207437.5_Missense_Mutation_p.E60K|MYL6B_ENST00000550152.1_3'UTR|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550443.1_Missense_Mutation_p.E60K			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	60					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TCCACAGATCGAGTTTAACAA	0.532													29	198					0	0	0	0	A	56548600	G	A	56548600	3	1	186	1	0	0	0	0	1	0	0	0	10122	1059	37	1	184	1	MYL6B	12	56548600	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	753	56548600	77303295	192	32915			1	48		3	3	1129	G		6.448899e-05
MYL6B	140465	broad.mit.edu	37	chr12	56548975	56548975	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtcctggggaaccccaaGagtgatggtgaggggaccct	10	6	16	9	0	0	3	0	2	0	1	1	5	1	5	4	6	1	0	4	6	3	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:56548975G>A	ENST00000553066.1	+	4	761	c.339G>A	c.(337-339)aaG>aaA	p.K113K	MYL6B_ENST00000552568.1_Silent_p.K113K|MYL6B_ENST00000207437.5_Silent_p.K113K|MYL6B_ENST00000550152.1_3'UTR|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550443.1_Silent_p.K113K			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	113					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGAACCCCAAGAGTGATGGTG	0.522													23	116					0	0	0	0	A	56548975	G	A	56548975	2	1	186	1	0	0	0	0	0	0	0	1	10122	933	33	2		2	MYL6B	12	56548975	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	375	56548975	77302920	193	32916			1	48		3	3	1129	G		6.448899e-05
TIMELESS	8914	broad.mit.edu	37	chr12	56818549	56818549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcagggttcttaccgaGcagacctcaggagagtcagg	10	6	15	10	1	3	2	2	0	1	2	3	4	3	2	2	4	2	4	2	4	1	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:56818549G>A	ENST00000229201.4	-	15	2016	c.1862C>T	c.(1861-1863)gCt>gTt	p.A621V	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A622V	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	622					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTCTTACCGAGCAGACCTCAG	0.587													5	85					0	0	0	0	A	56818549	G	A	56818549	3	1	186	1	0	0	0	0	1	0	0	0	15998	971	34	4	1821	4	TIMELESS	12	56818549	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	269574	56818549	77033346	194	32917											
TSPAN31	6302	broad.mit.edu	37	chr12	58140808	58140808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttatcctcagatctgcaAgagccagagccccacatgcc	10	9	8	14	0	2	3	1	0	1	3	3	3	3	3	5	0	4	2	5	0	2	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:58140808A>G	ENST00000547992.1	+	3	332	c.200A>G	c.(199-201)aAg>aGg	p.K67R	TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000257910.3_Missense_Mutation_p.K151R|TSPAN31_ENST00000547472.1_Missense_Mutation_p.K68R			Q12999	TSN31_HUMAN	tetraspanin 31	151					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAGATCTGCAAGAGCCAGAGC	0.423													4	164					0	0	0	0	G	58140808	A	G	58140808	3	3	186	1	0	0	0	0	1	0	0	0	16741	72	3	5	470	5	TSPAN31	12	58140808	Missense_Mutation	SNP	A	TCGA-CR-6484-01A-11D-1870-08	1322259	58140808	75711087	195	32918											
TMTC2	160335	broad.mit.edu	37	chr12	83455572	83455572	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctagcctcaatgaagcagctGagaagtattatgatctggca	13	10	10	8	0	2	3	1	3	1	1	2	4	2	3	1	1	3	4	1	1	6	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:83455572G>C	ENST00000549919.1	+	12	4080	c.2275G>C	c.(2275-2277)Gag>Cag	p.E759Q	TMTC2_ENST00000321196.3_Missense_Mutation_p.E765Q			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	765						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TGAAGCAGCTGAGAAGTATTA	0.353													13	73					0	0	0	0	C	83455572	G	C	83455572	3	2	186	1	0	0	0	0	1	0	0	0	16355	1291	45	2	2335	2	TMTC2	12	83455572	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	25314764	83455572	50396323	196	32919											
APAF1	317	broad.mit.edu	37	chr12	99093306	99093306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgttgttcgtggtctgctGatggtgcaaggataatggtg	7	14	16	4	1	1	1	0	1	1	0	2	2	1	2	0	4	2	4	0	4	2	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:99093306G>A	ENST00000357310.1	+	17	3002	c.2425G>A	c.(2425-2427)Gat>Aat	p.D809N	APAF1_ENST00000339433.3_Missense_Mutation_p.D809N|APAF1_ENST00000550527.1_Missense_Mutation_p.D798N|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.D809N|APAF1_ENST00000359972.2_Missense_Mutation_p.D798N|APAF1_ENST00000551964.1_Missense_Mutation_p.D809N|APAF1_ENST00000547045.1_Missense_Mutation_p.D809N|APAF1_ENST00000552268.1_Intron	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	809					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GTGGTCTGCTGATGGTGCAAG	0.358													10	49					0	0	0	0	A	99093306	G	A	99093306	3	1	186	1	0	0	0	0	1	0	0	0	756	1290	45	2	2487	2	APAF1	12	99093306	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	15637734	99093306	34758589	197	32920											
SACS	26278	broad.mit.edu	37	chr13	23913992	23913992	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagatcttggtcacttttGagatatatcttctgaataac	11	16	7	7	0	4	3	1	3	3	2	4	5	4	3	0	1	1	0	0	1	4	7			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:23913992G>C	ENST00000382298.3	-	10	4611	c.4023C>G	c.(4021-4023)ctC>ctG	p.L1341L	SACS_ENST00000382292.3_Silent_p.L1341L|SACS_ENST00000402364.1_Silent_p.L591L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1341					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGTCACTTTTGAGATATATCT	0.358													12	40					0	0	0	0	C	23913992	G	C	23913992	2	2	186	1	0	0	0	0	0	0	0	1	13889	1277	45	2		2	SACS	13	23913992	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08		23913992	91255886	198	32921											
FLT1	2321	broad.mit.edu	37	chr13	28913326	28913326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttaagtctctcccgggCaaactcccacttgctggcat	8	11	8	14	1	1	0	0	0	1	0	4	0	3	0	2	2	2	4	2	2	2	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:28913326C>A	ENST00000282397.4	-	17	2718	c.2467G>T	c.(2467-2469)Gcc>Tcc	p.A823S	FLT1_ENST00000540678.1_Missense_Mutation_p.A41S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	823					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTCTCCCGGGCAAACTCCCAC	0.418													4	54					0.000602214	0.000627168	1	0	A	28913326	C	A	28913326	3	1	186	1	0	0	0	0	1	0	0	0	5986	710	25	4	1605	4	FLT1	13	28913326	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	4999334	28913326	86256552	199	32922											
LRCH1	23143	broad.mit.edu	37	chr13	47303005	47303005	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgagatgagattgaaggtCagtctacacgaagacctggg	13	9	13	6	1	2	4	1	3	1	3	2	7	2	4	1	2	1	0	1	2	3	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:47303005C>T	ENST00000311191.6	+	17	2017	c.1788C>T	c.(1786-1788)gtC>gtT	p.V596V	LRCH1_ENST00000389797.3_Silent_p.V631V|LRCH1_ENST00000389798.3_Silent_p.V596V	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	596	CH.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GATTGAAGGTCAGTCTACACG	0.488													18	117					0	0	0	0	T	47303005	C	T	47303005	2	4	186	1	0	0	0	0	0	0	0	1	8996	813	29	2		2	LRCH1	13	47303005	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	18389679	47303005	67866873	200	32923											
OLFM4	10562	broad.mit.edu	37	chr13	53603067	53603067	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctccaattcccagcccCggcttcagctctttcccagg	6	9	8	18	1	2	0	1	0	1	0	5	1	5	1	6	3	2	2	6	3	1	3	rs140749392		TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:53603067C>G	ENST00000219022.2	+	1	174	c.96C>G	c.(94-96)ccC>ccG	p.P32P		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	32	Ser-rich.				cell adhesion	extracellular space		p.P32P(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TTCCCAGCCCCGGCTTCAGCT	0.607													9	165					0	0	0	0	G	53603067	C	G	53603067	2	3	186	1	0	0	0	0	0	0	0	1	10926	639	23	3		3	OLFM4	13	53603067	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	6300062	53603067	61566811	201	32924											
TMTC4	84899	broad.mit.edu	37	chr13	101320888	101320888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagtctccatcatagctgCgtgcaaaacacacaatggca	15	7	7	12	1	2	0	1	0	1	0	3	0	2	0	1	1	4	3	1	1	5	1	rs77476624		TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:101320888C>T	ENST00000342624.5	-	3	422	c.164G>A	c.(163-165)cGc>cAc	p.R55H	TMTC4_ENST00000376234.3_Missense_Mutation_p.R36H|TMTC4_ENST00000328767.5_Missense_Mutation_p.R36H	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	36						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATCATAGCTGCGTGCAAAACA	0.413													3	43					0	0	0	0	T	101320888	C	T	101320888	3	4	186	1	0	0	0	0	1	0	0	0	16357	768	27	1	2186	1	TMTC4	13	101320888	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	47717821	101320888	13848990	202	32925											
HECTD1	25831	broad.mit.edu	37	chr14	31637671	31637671	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctttattaactggacacatCcaatcacctacagacaaata	16	10	3	12	0	1	1	1	0	0	1	2	2	2	2	3	1	2	0	3	1	6	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:31637671C>G	ENST00000399332.1	-	10	1943	c.1455G>C	c.(1453-1455)tgG>tgC	p.W485C	HECTD1_ENST00000553700.1_Missense_Mutation_p.W485C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	485					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGGACACATCCAATCACCTA	0.308													19	145					0	0	0	0	G	31637671	C	G	31637671	3	3	186	1	0	0	0	0	1	0	0	0	7089	856	30	2	6513	2	HECTD1	14	31637671	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08		31637671	75711869	203	32926											
PNN	5411	broad.mit.edu	37	chr14	39650613	39650613	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagtagaggtcgagctaGaaataaaacaagcaagagta	20	5	11	5	1	0	4	0	0	0	4	1	5	0	4	0	1	3	4	0	1	9	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:39650613G>C	ENST00000216832.4	+	9	1767	c.1700G>C	c.(1699-1701)aGa>aCa	p.R567T	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	567	Ser-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GGTCGAGCTAGAAATAAAACA	0.453													4	52					0	0	0	0	C	39650613	G	C	39650613	3	2	186	1	0	0	0	0	1	0	0	0	12232	942	33	2	1734	2	PNN	14	39650613	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	8012942	39650613	67698927	204	32927											
SAV1	60485	broad.mit.edu	37	chr14	51102087	51102087	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggaagagttcccacttCagaatgtggtcatatctgtt	10	13	10	8	0	3	2	2	0	1	2	4	3	4	3	1	2	1	3	1	2	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:51102087C>T	ENST00000324679.4	-	5	1329	c.966G>A	c.(964-966)ctG>ctA	p.L322L		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	322	SARAH.				hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GTTCCCACTTCAGAATGTGGT	0.343													11	30					0	0	0	0	T	51102087	C	T	51102087	2	4	186	1	0	0	0	0	0	0	0	1	13942	813	29	2		2	SAV1	14	51102087	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	11451474	51102087	56247453	205	32928											
PPM1A	5494	broad.mit.edu	37	chr14	60749451	60749451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttagacaagccaaagatGgaaaagcataatgcccaggg	16	8	10	7	0	0	2	0	0	0	2	0	3	0	3	2	2	3	1	2	2	6	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:60749451G>A	ENST00000395076.4	+	2	460	c.30G>A	c.(28-30)atG>atA	p.M10I	PPM1A_ENST00000325658.3_Missense_Mutation_p.M10I|PPM1A_ENST00000325642.3_Missense_Mutation_p.M83I|PPM1A_ENST00000529574.1_Missense_Mutation_p.M10I	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	10					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	p.M10I(1)|p.M83I(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		AGCCAAAGATGGAAAAGCATA	0.443													15	163					0	0	0	0	A	60749451	G	A	60749451	3	1	186	1	0	0	0	0	1	0	0	0	12411	1348	47	4	255	4	PPM1A	14	60749451	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	9647364	60749451	46600089	206	32929											
PRKCH	5583	broad.mit.edu	37	chr14	61952289	61952289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacattcagaagtctcgtCgttttgatgaagcacgagct	10	12	9	10	3	2	3	1	2	1	1	5	4	3	3	1	0	2	3	1	0	2	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:61952289C>T	ENST00000332981.5	+	10	1733	c.1348C>T	c.(1348-1350)Cgt>Tgt	p.R450C	PRKCH_ENST00000555082.1_Missense_Mutation_p.R289C	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	450	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GAAGTCTCGTCGTTTTGATGA	0.443													37	273					0	0	0	0	T	61952289	C	T	61952289	3	4	186	1	0	0	0	0	1	0	0	0	12593	884	31	1	1386	1	PRKCH	14	61952289	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1202838	61952289	45397251	207	32930											
PLEKHG3	26030	broad.mit.edu	37	chr14	65194385	65194385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccctccaccaggatggcagCcaggagcggccggtgagcct	7	5	14	15	2	0	1	0	1	0	0	2	3	2	3	6	5	3	1	6	5	0	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:65194385C>A	ENST00000247226.7	+	2	344	c.36C>A	c.(34-36)agC>agA	p.S12R	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S12R	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	12	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGGATGGCAGCCAGGAGCGGC	0.652													4	16					0.014758	0.0151189	1	0	A	65194385	C	A	65194385	3	1	186	1	0	0	0	0	1	0	0	0	12142	738	26	4	38	4	PLEKHG3	14	65194385	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	3242096	65194385	42155155	208	32931											
FCF1	51077	broad.mit.edu	37	chr14	75200790	75200790	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttacagcataagtgttaCattgtggccacagttgaccg	10	12	9	10	1	1	1	0	1	1	0	1	1	1	1	2	1	3	3	2	1	3	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:75200790C>T	ENST00000341162.4	+	7	519	c.465C>T	c.(463-465)taC>taT	p.Y155Y	FCF1_ENST00000553615.1_Silent_p.Y140Y|FCF1_ENST00000534938.2_Silent_p.Y143Y	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	155	PINc.				rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		ATAAGTGTTACATTGTGGCCA	0.443													10	41					0	0	0	0	T	75200790	C	T	75200790	2	4	186	1	0	0	0	0	0	0	0	1	5822	489	17	4		4	FCF1	14	75200790	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	10006405	75200790	32148750	209	32932											
OTUB2	78990	broad.mit.edu	37	chr14	94511037	94511037	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcgtgcagttcctgcgcCtgctcacgtcggccttcatc	5	11	9	16	4	2	0	2	0	0	0	6	0	3	0	3	1	3	3	3	1	0	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:94511037C>G	ENST00000203664.5	+	5	618	c.409C>G	c.(409-411)Ctg>Gtg	p.L137V		NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	137	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		GTTCCTGCGCCTGCTCACGTC	0.552													3	35					0	0	0	0	G	94511037	C	G	94511037	3	3	186	1	0	0	0	0	1	0	0	0	11383	680	24	4	427	4	OTUB2	14	94511037	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	19310247	94511037	12838503	210	32933											
EML1	2009	broad.mit.edu	37	chr14	100363569	100363569	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcgcatccgtggtggtGttatacaacgtggaggagca	9	11	13	8	3	1	0	1	0	0	0	3	2	2	2	1	4	3	3	1	4	3	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:100363569G>A	ENST00000262233.6	+	7	904	c.765G>A	c.(763-765)gtG>gtA	p.V255V	EML1_ENST00000334192.4_Silent_p.V274V|EML1_ENST00000327921.9_Silent_p.V243V	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	255						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CCGTGGTGGTGTTATACAACG	0.532													9	57					0	0	0	0	A	100363569	G	A	100363569	2	1	186	1	0	0	0	0	0	0	0	1	5134	1364	48	4		4	EML1	14	100363569	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	5852532	100363569	6985971	211	32934											
RYR3	6263	broad.mit.edu	37	chr15	33955886	33955886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggccctgaacatgtctgCggccctgactgcccggaaga	8	6	13	14	2	1	3	0	2	1	1	1	4	1	4	3	3	3	1	3	3	2	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:33955886C>T	ENST00000389232.4	+	36	5637	c.5567C>T	c.(5566-5568)gCg>gTg	p.A1856V	RYR3_ENST00000415757.3_Missense_Mutation_p.A1856V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1856	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACATGTCTGCGGCCCTGACT	0.552													3	16					0	0	0	0	T	33955886	C	T	33955886	3	4	186	1	0	0	0	0	1	0	0	0	13855	768	27	1	5709	1	RYR3	15	33955886	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08		33955886	68575506	212	32935											
PAK6	56924	broad.mit.edu	37	chr15	40565875	40565875	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtctttgtatgccactGaggtaaccgttccctccacc	7	11	8	15	1	1	1	0	1	1	0	3	1	3	1	6	2	2	3	6	2	2	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:40565875G>T	ENST00000455577.2	+	9	2653	c.1741G>T	c.(1741-1743)Gag>Tag	p.E581*	PAK6_ENST00000542403.2_Nonsense_Mutation_p.E581*|PAK6_ENST00000560346.1_Nonsense_Mutation_p.E581*|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Nonsense_Mutation_p.E581*|PAK6_ENST00000260404.4_Nonsense_Mutation_p.E581*|PAK6_ENST00000453867.1_Nonsense_Mutation_p.E581*	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	581	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GTATGCCACTGAGGTAACCGT	0.572													7	43					8.12818e-05	8.55957e-05	1	0	T	40565875	G	T	40565875	4	4	186	1	0	0	0	0	0	1	0	0	11475	1291	45	2	1763	2	PAK6	15	40565875	Nonsense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	6609989	40565875	61965517	213	32936											
PLCB2	5330	broad.mit.edu	37	chr15	40582261	40582261	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactacttcctggatgtgggAgttgttaatctctctcttca	7	16	8	10	0	3	0	1	0	2	0	6	2	4	2	1	2	1	2	1	2	2	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:40582261A>G	ENST00000260402.3	-	30	3481	c.3232T>C	c.(3232-3234)Tcc>Ccc	p.S1078P	PLCB2_ENST00000557821.1_Missense_Mutation_p.S1074P|PLCB2_ENST00000456256.2_Missense_Mutation_p.S1063P	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1078					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGGATGTGGGAGTTGTTAATC	0.468													4	101					0	0	0	0	G	40582261	A	G	40582261	3	3	186	1	0	0	0	0	1	0	0	0	12100	304	11	5	337	5	PLCB2	15	40582261	Missense_Mutation	SNP	A	TCGA-CR-6484-01A-11D-1870-08	16386	40582261	61949131	214	32937											
INO80	54617	broad.mit.edu	37	chr15	41387980	41387980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtagaactccattcagaGaatatgtgtttaacattcca	14	13	6	8	0	1	2	1	0	0	2	3	3	3	2	2	0	2	2	2	0	5	6			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:41387980G>A	ENST00000361937.3	-	3	714	c.290C>T	c.(289-291)tCt>tTt	p.S97F	INO80_ENST00000401393.3_Missense_Mutation_p.S97F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	97	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCCATTCAGAGAATATGTGTT	0.418													6	73					0	0	0	0	A	41387980	G	A	41387980	3	1	186	1	0	0	0	0	1	0	0	0	7799	942	33	2	4516	2	INO80	15	41387980	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	805719	41387980	61143412	215	32938											
OIP5	11339	broad.mit.edu	37	chr15	41624610	41624610	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcccccagccctgcggggccGagcggcgaggaccccttcac	5	3	14	19	4	1	0	1	0	0	0	1	3	1	1	6	4	3	0	6	4	0	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:41624610G>C	ENST00000220514.3	-	1	209	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	50					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTGCGGGGCCGAGCGGCGAGG	0.662													13	58					0	0	0	0	C	41624610	G	C	41624610	2	2	186	1	0	0	0	0	0	0	0	1	10919	1045	37	3		3	OIP5	15	41624610	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	236630	41624610	60906782	216	32939											
LTK	4058	broad.mit.edu	37	chr15	41804373	41804373	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tacagcgactccccgagaccGagggagaagattgctgagac	12	5	13	11	3	0	4	0	1	0	4	1	9	1	4	3	1	3	1	3	1	2	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:41804373G>C	ENST00000263800.6	-	4	546	c.450C>G	c.(448-450)ctC>ctG	p.L150L	LTK_ENST00000453182.2_Silent_p.L150L|LTK_ENST00000355166.5_Silent_p.L150L|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	150					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CCCCGAGACCGAGGGAGAAGA	0.697										TSP Lung(18;0.14)			3	29					0	0	0	0	C	41804373	G	C	41804373	2	2	186	1	0	0	0	0	0	0	0	1	9144	1045	37	3		3	LTK	15	41804373	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	179763	41804373	60727019	217	32940											
PYGO1	26108	broad.mit.edu	37	chr15	55838571	55838571	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgtcgtggcttattctGcgtcccatttgcagggttat	4	17	12	8	2	1	0	0	0	1	0	3	0	2	0	1	3	2	4	1	3	2	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:55838571G>A	ENST00000302000.6	-	3	1004	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	PYGO1_ENST00000563719.1_Nonsense_Mutation_p.Q304*	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	304	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GGCTTATTCTGCGTCCCATTT	0.433													49	323					0	0	0	0	A	55838571	G	A	55838571	4	1	186	1	0	0	0	0	0	1	0	0	12945	1328	46	4	353	4	PYGO1	15	55838571	Nonsense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	14034198	55838571	46692821	218	32941											
TLN2	83660	broad.mit.edu	37	chr15	62993361	62993361	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaacacgaaatccattcTcaagttgatgctatcacggc	13	10	6	12	2	2	1	2	1	1	0	5	2	4	1	2	1	2	2	2	1	4	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:62993361T>C	ENST00000561311.1	+	16	1874	c.1644T>C	c.(1642-1644)tcT>tcC	p.S548S	TLN2_ENST00000306829.6_Silent_p.S548S			Q9Y4G6	TLN2_HUMAN	talin 2	548					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAATCCATTCTCAAGTTGATG	0.468													7	78					0	0	0	0	C	62993361	T	C	62993361	2	2	186	1	0	0	0	0	0	0	0	1	16042	1538	54	5		5	TLN2	15	62993361	Silent	SNP	T	TCGA-CR-6484-01A-11D-1870-08	7154790	62993361	39538031	219	32942											
RASL12	51285	broad.mit.edu	37	chr15	65350896	65350896	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctggcggctgtcgacgctGtacaccaccaggaaggcatg	8	7	13	13	3	1	0	0	0	1	0	2	2	1	1	2	4	1	4	2	4	2	1	rs147666289		TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:65350896G>A	ENST00000220062.4	-	4	570	c.294C>T	c.(292-294)taC>taT	p.Y98Y	RASL12_ENST00000434605.2_Silent_p.Y87Y|RASL12_ENST00000421977.3_Silent_p.Y79Y	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	98					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TGTCGACGCTGTACACCACCA	0.652													10	43					0	0	0	0	A	65350896	G	A	65350896	2	1	186	1	0	0	0	0	0	0	0	1	13165	1372	48	4		4	RASL12	15	65350896	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	2357535	65350896	37180496	220	32943											
GOLGA6A	342096	broad.mit.edu	37	chr15	74368322	74368322	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggaccgcttctctgcagctcGaggactggatggtgaagagt	8	9	15	9	2	1	2	0	1	1	1	3	6	1	5	1	4	2	3	1	4	1	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:74368322G>C	ENST00000290438.3	-	8	609	c.569C>G	c.(568-570)tCg>tGg	p.S190W		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	190										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TCTGCAGCTCGAGGACTGGAT	0.552													13	156					0	0	0	0	C	74368322	G	C	74368322	3	2	186	1	0	0	0	0	1	0	0	0	6608	1059	37	3	1556	3	GOLGA6A	15	74368322	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	9017426	74368322	28163070	221	32944											
EDC3	80153	broad.mit.edu	37	chr15	74967310	74967310	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggacactcacctgaaggtGacttctggaacaagacactt	13	8	9	11	0	2	3	1	2	1	1	2	5	2	5	1	3	1	0	1	3	3	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:74967310G>A	ENST00000315127.4	-	2	337	c.156C>T	c.(154-156)gtC>gtT	p.V52V	EDC3_ENST00000568176.1_Silent_p.V52V|EDC3_ENST00000426797.3_Silent_p.V52V	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	52	Required for P-body targeting and interaction with DCP1A (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						ACCTGAAGGTGACTTCTGGAA	0.498													29	176					0	0	0	0	A	74967310	G	A	74967310	2	1	186	1	0	0	0	0	0	0	0	1	4943	1277	45	2		2	EDC3	15	74967310	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	598988	74967310	27564082	222	32945											
KIAA1199	57214	broad.mit.edu	37	chr15	81181841	81181841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacggagtggttcgatcatGataaagtatctcagactaaa	14	10	11	6	2	2	2	2	1	1	1	4	5	2	4	0	3	0	2	0	3	5	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:81181841G>C	ENST00000394685.3	+	10	1413	c.994G>C	c.(994-996)Gat>Cat	p.D332H	KIAA1199_ENST00000356249.5_Missense_Mutation_p.D332H|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D332H			Q8WUJ3	K1199_HUMAN	KIAA1199	332										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTTCGATCATGATAAAGTATC	0.463													3	87					0	0	0	0	C	81181841	G	C	81181841	3	2	186	1	0	0	0	0	1	0	0	0	8264	1290	45	2	1024	2	KIAA1199	15	81181841	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	6214531	81181841	21349551	223	32946											
MEX3B	84206	broad.mit.edu	37	chr15	82336881	82336881	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctgcccgtcacaacaaaGacaggctcctccccgcgaac	10	6	7	18	3	1	1	1	0	0	1	4	2	4	1	5	1	3	1	5	1	3	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:82336881G>C	ENST00000329713.4	-	2	765	c.330C>G	c.(328-330)gtC>gtG	p.V110V	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	110	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						TCACAACAAAGACAGGCTCCT	0.577													11	51					0	0	0	0	C	82336881	G	C	82336881	2	2	186	1	0	0	0	0	0	0	0	1	9579	929	33	2		2	MEX3B	15	82336881	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1155040	82336881	20194511	224	32947											
CPEB1	64506	broad.mit.edu	37	chr15	83226644	83226644	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgagggtgctggaaacttgtCcaccaagtcagacccaaggg	11	7	13	10	0	1	2	1	1	0	1	2	3	2	3	3	3	2	1	3	3	3	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:83226644C>G	ENST00000563800.1	-	4	2278	c.553G>C	c.(553-555)Gac>Cac	p.D185H	CPEB1_ENST00000568757.1_Missense_Mutation_p.D83H|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.D158H|CPEB1_ENST00000564522.1_Missense_Mutation_p.D83H|CPEB1_ENST00000562019.1_Missense_Mutation_p.D158H|CPEB1_ENST00000398591.2_Missense_Mutation_p.D83H|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000450751.2_Missense_Mutation_p.D83H|CPEB1_ENST00000423133.2_Missense_Mutation_p.D83H|CPEB1_ENST00000261723.6_Missense_Mutation_p.D161H			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	158	Ser-rich.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGAAACTTGTCCACCAAGTCA	0.567													9	87					0	0	0	0	G	83226644	C	G	83226644	3	3	186	1	0	0	0	0	1	0	0	0	3830	855	30	2	1264	2	CPEB1	15	83226644	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	889763	83226644	19304748	225	32948											
ABHD2	11057	broad.mit.edu	37	chr15	89738457	89738457	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagctgcgtttcccctgcaGagaaacgagagaacgtcatg	11	8	11	11	3	2	2	2	0	0	2	3	5	3	2	2	0	5	3	2	0	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:89738457G>C	ENST00000352732.5	+	11	1601		c.e11-1		ABHD2_ENST00000565973.1_Splice_Site|ABHD2_ENST00000355100.3_Splice_Site	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2							integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTCCCCTGCAGAGAAACGAGA	0.582													19	81					0	0	0	0	C	89738457	G	C	89738457	5	2	186	1	0	0	0	0	0	0	1	0	82	956	33	2	1115	2	ABHD2	15	89738457	Splice_Site	SNP	G	TCGA-CR-6484-01A-11D-1870-08	6511813	89738457	12792935	226	32949											
PLIN1	5346	broad.mit.edu	37	chr15	90210983	90210983	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcctccgccgggacacCgcctgcatggccactgaggc	5	6	12	18	4	0	1	0	1	0	0	3	2	2	2	6	3	1	2	6	3	0	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:90210983C>T	ENST00000300055.5	-	7	978	c.813G>A	c.(811-813)gcG>gcA	p.A271A	PLIN1_ENST00000430628.2_Silent_p.A271A	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	271			A -> V (in dbSNP:rs58361219).		triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						GCCGGGACACCGCCTGCATGG	0.677													3	6					0	0	0	0	T	90210983	C	T	90210983	2	4	186	1	0	0	0	0	0	0	0	1	12161	639	23	1		1	PLIN1	15	90210983	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	472526	90210983	12320409	227	32950											
ITFG3	83986	broad.mit.edu	37	chr16	313748	313748	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaccttggctgtagccgttGaaaacggaactggcaccgac	11	7	11	12	3	0	1	0	1	0	0	0	3	0	2	3	3	3	4	3	3	4	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:313748G>C	ENST00000399932.3	+	10	1613	c.1162G>C	c.(1162-1164)Gaa>Caa	p.E388Q	ITFG3_ENST00000600536.1_Missense_Mutation_p.E388Q|ITFG3_ENST00000442458.2_Missense_Mutation_p.E388Q|ITFG3_ENST00000301678.3_Missense_Mutation_p.E388Q|ITFG3_ENST00000301679.2_Missense_Mutation_p.E388Q|ITFG3_ENST00000450082.2_Missense_Mutation_p.E388Q			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	388						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TGTAGCCGTTGAAAACGGAAC	0.537													12	58					0	0	0	0	C	313748	G	C	313748	3	2	186	1	0	0	0	0	1	0	0	0	7924	1291	45	2	1192	2	ITFG3	16	313748	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08		313748	90041005	228	32951											
IFT140	9742	broad.mit.edu	37	chr16	1621494	1621494	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgtccaagaagcagggattCccctcagtctccgagaaaag	13	7	10	11	1	2	2	1	0	1	2	5	4	4	3	4	1	1	1	4	1	4	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:1621494C>T	ENST00000426508.2	-	14	1929	c.1566G>A	c.(1564-1566)ggG>ggA	p.G522G	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	522										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGCAGGGATTCCCCTCAGTCT	0.413													3	43					0	0	0	0	T	1621494	C	T	1621494	2	4	186	1	0	0	0	0	0	0	0	1	7609	842	30	2		2	IFT140	16	1621494	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1307746	1621494	88733259	229	32952											
RNF151	146310	broad.mit.edu	37	chr16	2017315	2017315	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcgccagccctcctgAcagcaacttcgtgtgctccg	5	10	8	18	3	1	1	0	1	1	0	5	1	3	1	5	0	4	2	5	0	1	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:2017315A>G	ENST00000569210.2	+	2	103	c.44A>G	c.(43-45)gAc>gGc	p.D15G	RNF151_ENST00000321392.3_Missense_Mutation_p.D14G|RNF151_ENST00000569714.1_Missense_Mutation_p.D15G			Q2KHN1	RN151_HUMAN	ring finger protein 151	15					cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(1)	2						AGCCCTCCTGACAGCAACTTC	0.582													8	50					0	0	0	0	G	2017315	A	G	2017315	3	3	186	1	0	0	0	0	1	0	0	0	13537	275	10	5	50	5	RNF151	16	2017315	Missense_Mutation	SNP	A	TCGA-CR-6484-01A-11D-1870-08	395821	2017315	88337438	230	32953											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19126188	19126188	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggtgcgggctggccgCgcccgggggtcccccggtct	1	6	19	15	5	1	0	0	0	1	0	2	1	2	0	4	6	2	2	4	6	0	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:19126188C>A	ENST00000381440.3	+	1	935	c.405C>A	c.(403-405)cgC>cgA	p.R135R	CTD-2349B8.1_ENST00000564808.2_3'UTR	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	135						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGGCTGGCCGCGCCCGGGGGT	0.667													3	6					6.4e-05	6.75854e-05	1	0	A	19126188	C	A	19126188	2	1	186	1	0	0	0	0	0	0	0	1	7978	755	27	3		3	ITPRIPL2	16	19126188	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	17108873	19126188	71228565	231	32954											
ANKS4B	257629	broad.mit.edu	37	chr16	21261527	21261527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagttcaagaagaacaaaGatacagcagaacaggtgggg	18	5	12	6	0	2	4	2	0	0	4	2	4	2	4	0	3	4	2	0	3	7	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:21261527G>C	ENST00000311620.5	+	2	713	c.640G>C	c.(640-642)Gat>Cat	p.D214H		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	214										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GAAGAACAAAGATACAGCAGA	0.478													8	72					0	0	0	0	C	21261527	G	C	21261527	3	2	186	1	0	0	0	0	1	0	0	0	690	942	33	2	646	2	ANKS4B	16	21261527	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	2135339	21261527	69093226	232	32955			2	49		4	3	465	N	G	1.094697e-05
ANKS4B	257629	broad.mit.edu	37	chr16	21261721	21261721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagtattgtttttagaagGaacaggatatcgagtcctga	13	12	12	4	1	0	2	0	1	0	1	2	6	1	5	1	3	1	2	1	3	6	6			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:21261721G>T	ENST00000311620.5	+	2	907	c.834G>T	c.(832-834)agG>agT	p.R278S		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	278										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TTTTTAGAAGGAACAGGATAT	0.453													8	81					1.26484e-09	1.37817e-09	1	0	T	21261721	G	T	21261721	3	4	186	1	0	0	0	0	1	0	0	0	690	1165	41	2	840	2	ANKS4B	16	21261721	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	194	21261721	69093032	233	32956			2	49		4	3	465	N	G	1.094697e-05
ANKS4B	257629	broad.mit.edu	37	chr16	21261982	21261982	+	Missense_Mutation	SNP	G	G	T																															gaattcctgcctatcttcaaGagagagcagattgatctaga																										TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:21261982G>T	ENST00000311620.5	+	2	1168	c.1095G>T	c.(1093-1095)aaG>aaT	p.K365N		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	365	SAM.									NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTATCTTCAAGAGAGAGCAGA	0.502													9	69					0.000274275	0.000286431	1	0	T	21261982	G	T	21261982	3	4	186	1	0	0	0	0	1	0	0	0	690	933	33	2	1101	2	ANKS4B	16	21261982	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	261	21261982	69092771	234	32957	250	2	2	49		4	3	465	N	G	1.094697e-05
ANKS4B	257629	broad.mit.edu	37	chr16	21261991	21261991	+	Missense_Mutation	SNP	G	G	T																															cctatcttcaagagagagcaGattgatctagaagctctgct																										TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:21261991G>T	ENST00000311620.5	+	2	1177	c.1104G>T	c.(1102-1104)caG>caT	p.Q368H		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	368	SAM.									NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGAGAGAGCAGATTGATCTAG	0.502													11	78					0.000673444	0.000699417	1	0	T	21261991	G	T	21261991	3	4	186	1	0	0	0	0	1	0	0	0	690	933	33	2	1110	2	ANKS4B	16	21261991	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	9	21261991	69092762	235	32958	250	2	2	49		4	3	465	N	G	1.094697e-05
METTL9	51108	broad.mit.edu	37	chr16	21624068	21624068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcttaaacaacagcattGagaaatcgggctggctattt	12	13	8	8	1	2	1	0	1	2	1	3	2	2	1	0	2	3	3	0	2	5	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:21624068G>A	ENST00000358154.3	+	2	526	c.268G>A	c.(268-270)Gag>Aag	p.E90K	METTL9_ENST00000396014.4_Missense_Mutation_p.E90K	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	90										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		CAACAGCATTGAGAAATCGGG	0.373													6	73					0	0	0	0	A	21624068	G	A	21624068	3	1	186	1	0	0	0	0	1	0	0	0	9577	1291	45	2	274	2	METTL9	16	21624068	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	362077	21624068	68730685	236	32959											
BCL7C	9274	broad.mit.edu	37	chr16	30904177	30904177	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctaccattaagatccagcagGatgagagggccaccccctcg	11	6	10	14	1	0	2	0	1	0	2	2	4	1	3	5	2	2	1	5	2	2	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:30904177G>A	ENST00000380317.4	-	3	621	c.264C>T	c.(262-264)atC>atT	p.I88I	BCL7C_ENST00000215115.4_Silent_p.I88I|MIR4519_ENST00000564901.1_RNA|AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000565573.1_RNA|MIR4519_ENST00000570025.1_RNA			Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	88					apoptosis					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			GATCCAGCAGGATGAGAGGGC	0.662													18	105					0	0	0	0	A	30904177	G	A	30904177	2	1	186	1	0	0	0	0	0	0	0	1	1384	1164	41	2		2	BCL7C	16	30904177	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	9280109	30904177	59450576	237	32960											
PRSS53	339105	broad.mit.edu	37	chr16	31095655	31095655	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtggtgccccagacaggCcctgtcaggggtcaggtgac	7	6	15	13	0	2	2	2	1	0	1	2	2	2	2	4	5	1	0	4	5	0	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:31095655C>T	ENST00000280606.6	-	10	1580	c.1425_splice	c.e10-1	p.G476_splice		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	476	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CCCAGACAGGCCCTGTCAGGG	0.632													3	32					0	0	0	0	T	31095655	C	T	31095655	5	4	186	1	0	0	0	0	0	0	1	0	12711	753	26	4	242	4	PRSS53	16	31095655	Splice_Site	SNP	C	TCGA-CR-6484-01A-11D-1870-08	191478	31095655	59259098	238	32961											
CCDC102A	92922	broad.mit.edu	37	chr16	57555060	57555060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctccccctctagcttctCaatgttcctgctcaacgcca	7	11	6	17	1	3	0	2	0	2	0	6	1	5	0	4	0	4	4	4	0	3	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:57555060C>T	ENST00000258214.2	-	4	1087	c.841G>A	c.(841-843)Gag>Aag	p.E281K		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	281										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCTAGCTTCTCAATGTTCCTG	0.572													8	73					0	0	0	0	T	57555060	C	T	57555060	3	4	186	1	0	0	0	0	1	0	0	0	2761	835	29	2	835	2	CCDC102A	16	57555060	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	26459405	57555060	32799693	239	32962											
CCDC135	84229	broad.mit.edu	37	chr16	57741450	57741450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtgctatcggggaagcgcGaggtgcctgagaacttcttc	7	11	14	9	3	1	1	0	1	1	1	3	4	1	2	1	3	4	1	1	3	3	4	rs116219187	by1000genomes	TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:57741450G>A	ENST00000360716.3	+	8	1158	c.937G>A	c.(937-939)Gag>Aag	p.E313K	CCDC135_ENST00000394337.4_Missense_Mutation_p.E313K|CCDC135_ENST00000336825.8_Missense_Mutation_p.E248K			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	313						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGGGAAGCGCGAGGTGCCTGA	0.587													4	35					0	0	0	0	A	57741450	G	A	57741450	3	1	186	1	0	0	0	0	1	0	0	0	2794	1059	37	1	959	1	CCDC135	16	57741450	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	186390	57741450	32613303	240	32963											
KCTD19	146212	broad.mit.edu	37	chr16	67328549	67328549	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaccacatgcagcctcctGatggaaaaagcttcttcatt	11	11	7	12	0	3	1	2	1	1	0	4	2	4	2	3	1	3	2	3	1	2	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:67328549G>C	ENST00000304372.5	-	11	1579	c.1524C>G	c.(1522-1524)atC>atG	p.I508M		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	508						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCAGCCTCCTGATGGAAAAAG	0.488													3	128					0	0	0	0	C	67328549	G	C	67328549	3	2	186	1	0	0	0	0	1	0	0	0	8159	1280	45	2	1280	2	KCTD19	16	67328549	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	9587099	67328549	23026204	241	32964											
SLC12A4	6560	broad.mit.edu	37	chr16	67985892	67985892	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actacagctgtcttggcacaGatgtcaaactggtcccggga	10	9	11	11	1	2	1	1	0	1	1	3	2	3	2	1	3	3	2	1	3	2	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:67985892G>C	ENST00000422611.2	-	7	1011	c.972C>G	c.(970-972)atC>atG	p.I324M	SLC12A4_ENST00000576616.1_Missense_Mutation_p.I322M|SLC12A4_ENST00000537830.2_Missense_Mutation_p.I316M|SLC12A4_ENST00000572037.1_Missense_Mutation_p.I274M|SLC12A4_ENST00000338335.3_Missense_Mutation_p.I322M|SLC12A4_ENST00000541864.2_Missense_Mutation_p.I291M|SLC12A4_ENST00000316341.3_Missense_Mutation_p.I322M	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	322					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTTGGCACAGATGTCAAACT	0.587													4	28					0	0	0	0	C	67985892	G	C	67985892	3	2	186	1	0	0	0	0	1	0	0	0	14473	932	33	2	2359	2	SLC12A4	16	67985892	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	657343	67985892	22368861	242	32965											
DHODH	1723	broad.mit.edu	37	chr16	72057137	72057137	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccagggtgccctgcgctCtgaaacaggagggctgagtg	7	7	15	12	1	1	2	0	2	1	0	2	3	2	3	3	3	3	2	3	3	1	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:72057137C>G	ENST00000572887.1	+	7	1070	c.893C>G	c.(892-894)tCt>tGt	p.S298C	DHODH_ENST00000219240.4_Missense_Mutation_p.S298C|DHODH_ENST00000573922.1_3'UTR			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	298					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GCCCTGCGCTCTGAAACAGGA	0.562													8	51					0	0	0	0	G	72057137	C	G	72057137	3	3	186	1	0	0	0	0	1	0	0	0	4521	913	32	2	919	2	DHODH	16	72057137	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	4071245	72057137	18297616	243	32966											
TXNL4B	54957	broad.mit.edu	37	chr16	72124582	72124582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgagaaccaacaccttctCagcagtactttttatcgcct	10	12	5	14	1	1	1	1	1	1	1	3	2	1	1	4	0	4	2	4	0	4	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:72124582C>G	ENST00000268483.3	-	2	388	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	TXNL4B_ENST00000423037.1_Missense_Mutation_p.E23Q|TXNL4B_ENST00000426362.2_Missense_Mutation_p.E23Q	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	23					mitosis|mRNA processing|RNA splicing	spliceosomal complex				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						AACACCTTCTCAGCAGTACTT	0.398													10	61					0	0	0	0	G	72124582	C	G	72124582	3	3	186	1	0	0	0	0	1	0	0	0	16902	835	29	2	394	2	TXNL4B	16	72124582	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	67445	72124582	18230171	244	32967											
CNTNAP4	85445	broad.mit.edu	37	chr16	76572114	76572114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacgctgcttcatttcatGgtgatatgaagctgagcaga	10	11	10	10	1	2	4	2	3	0	1	2	4	2	4	1	1	3	4	1	1	2	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:76572114G>A	ENST00000307431.8	+	20	3479	c.3094G>A	c.(3094-3096)Ggt>Agt	p.G1032S	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G984S|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G960S|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G1036S	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1033					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTCATTTCATGGTGATATGAA	0.373													9	84					0	0	0	0	A	76572114	G	A	76572114	3	1	186	1	0	0	0	0	1	0	0	0	3679	1348	47	4	3184	4	CNTNAP4	16	76572114	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	4447532	76572114	13782639	245	32968											
ZNF232	7775	broad.mit.edu	37	chr17	5012863	5012863	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgtgtgtttctctggcctCagccactcacagcagagtac	7	12	9	13	1	3	1	2	0	1	1	5	1	3	1	2	1	3	3	2	1	1	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:5012863C>T	ENST00000250076.3	-	3	978	c.324G>A	c.(322-324)ctG>ctA	p.L108L	ZNF232_ENST00000575898.1_Silent_p.L108L|ZNF232_ENST00000575538.1_Intron|ZNF232_ENST00000416429.2_Silent_p.L81L	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	81	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TCTCTGGCCTCAGCCACTCAC	0.582													16	53					0	0	0	0	T	5012863	C	T	5012863	2	4	186	1	0	0	0	0	0	0	0	1	17880	813	29	2		2	ZNF232	17	5012863	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08		5012863	76182347	246	32969											
GPS2	2874	broad.mit.edu	37	chr17	7216603	7216603	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gacagggcaccaccaggctgGaggaaacctaggtggggaag	12	3	17	9	0	0	0	0	0	0	0	0	4	0	3	3	7	1	2	3	7	3	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:7216603G>C	ENST00000380728.2	-	9	1032	c.732C>G	c.(730-732)ctC>ctG	p.L244L	RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Silent_p.L244L|GPS2_ENST00000389167.5_Silent_p.L244L			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	244					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CACCAGGCTGGAGGAAACCTA	0.557											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	73					0	0	0	0	C	7216603	G	C	7216603	2	2	186	1	0	0	0	0	0	0	0	1	6783	1161	41	2		2	GPS2	17	7216603	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	2203740	7216603	73978607	247	32970											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	24					0	0	0	0	A	7578263	G	A	7578263	4	1	186	1	0	0	0	0	0	1	0	0	16476	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	361660	7578263	73616947	248	32971											
CHD3	1107	broad.mit.edu	37	chr17	7810759	7810759	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgaggtgccaggggtgcctgGagagatggagcctgaacctg	8	7	18	8	0	0	3	0	2	0	1	0	6	0	5	4	5	4	0	4	5	1	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:7810759G>C	ENST00000380358.4	+	32	5055	c.5054G>C	c.(5053-5055)gGa>gCa	p.G1685A	CHD3_ENST00000330494.7_Missense_Mutation_p.G1626A|CHD3_ENST00000358181.4_Missense_Mutation_p.G1626A	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1626	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGGGTGCCTGGAGAGATGGAG	0.592													3	27					0	0	0	0	C	7810759	G	C	7810759	3	2	186	1	0	0	0	0	1	0	0	0	3355	1174	41	2	5284	2	CHD3	17	7810759	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	232496	7810759	73384451	249	32972											
TMEM107	84314	broad.mit.edu	37	chr17	8077524	8077524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccgtcatgaaggtaatcaGaagggtttctttttcagccc	9	13	9	10	1	4	2	3	1	1	1	5	2	5	2	2	2	1	2	2	2	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:8077524G>C	ENST00000316425.5	-	5	550	c.438C>G	c.(436-438)ttC>ttG	p.F146L	TMEM107_ENST00000449985.2_3'UTR|TMEM107_ENST00000431792.2_Missense_Mutation_p.F74L|TMEM107_ENST00000437139.2_Missense_Mutation_p.F140L|TMEM107_ENST00000532998.1_3'UTR|TMEM107_ENST00000533070.1_Missense_Mutation_p.F139L	NM_032354.3	NP_115730.2	Q6UX40	TM107_HUMAN	transmembrane protein 107	140						integral to membrane				large_intestine(1)|lung(4)|ovary(1)	6						AAGGTAATCAGAAGGGTTTCT	0.502													10	66					0	0	0	0	C	8077524	G	C	8077524	3	2	186	1	0	0	0	0	1	0	0	0	16117	933	33	2	6	2	TMEM107	17	8077524	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	266765	8077524	73117686	250	32973											
PFAS	5198	broad.mit.edu	37	chr17	8157504	8157504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaggccctccccagtgctGaggagacaaagaagctgatg	11	6	13	11	0	0	5	0	3	0	2	1	6	1	5	3	2	2	2	3	2	2	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:8157504G>A	ENST00000314666.6	+	3	296	c.163G>A	c.(163-165)Gag>Aag	p.E55K	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	55					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCCAGTGCTGAGGAGACAAA	0.587													7	47					0	0	0	0	A	8157504	G	A	8157504	3	1	186	1	0	0	0	0	1	0	0	0	11826	1291	45	2	169	2	PFAS	17	8157504	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	79980	8157504	73037706	251	32974											
MYOCD	93649	broad.mit.edu	37	chr17	12656083	12656083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccagtccacgtgtgcaCggaggaaagtctcatgagca	10	7	12	12	2	1	1	1	1	1	0	4	3	3	3	3	2	2	2	3	2	1	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:12656083C>T	ENST00000425538.1	+	10	1678	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M	MYOCD_ENST00000395988.1_Missense_Mutation_p.T397M|MYOCD_ENST00000343344.4_Missense_Mutation_p.T493M	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	493	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.T493M(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CACGTGTGCACGGAGGAAAGT	0.612													8	19					0	0	0	0	T	12656083	C	T	12656083	3	4	186	1	0	0	0	0	1	0	0	0	10157	536	19	1	1516	1	MYOCD	17	12656083	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	4498579	12656083	68539127	252	32975											
SEZ6	124925	broad.mit.edu	37	chr17	27284448	27284448	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatggagctgcccatcagCacaaaaccctggtcacagat	13	6	10	12	0	2	1	2	0	0	1	2	3	2	3	2	3	4	2	2	3	2	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:27284448C>A	ENST00000317338.12	-	12	2840	c.2412G>T	c.(2410-2412)gtG>gtT	p.V804V	SEZ6_ENST00000360295.9_Silent_p.V804V|SEZ6_ENST00000442608.3_Silent_p.V804V|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	804	Sushi 4.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TGCCCATCAGCACAAAACCCT	0.582													4	149					0.150653	0.151862	1	0	A	27284448	C	A	27284448	2	1	186	1	0	0	0	0	0	0	0	1	14229	697	25	4		4	SEZ6	17	27284448	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	14628365	27284448	53910762	253	32976											
SLC6A4	6532	broad.mit.edu	37	chr17	28530257	28530257	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggatgcaaatgaaagatGaggttcctatgcagtaaccc	13	9	12	7	0	0	3	0	2	0	1	1	4	1	4	2	3	3	4	2	3	4	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:28530257G>T	ENST00000401766.2	-	13	2263	c.1751C>A	c.(1750-1752)tCa>tAa	p.S584*	SLC6A4_ENST00000261707.3_Nonsense_Mutation_p.S584*			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	584					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AATGAAAGATGAGGTTCCTAT	0.398													9	100					3.07112e-06	3.29861e-06	1	0	T	28530257	G	T	28530257	4	4	186	1	0	0	0	0	0	1	0	0	14774	1294	45	2	149	2	SLC6A4	17	28530257	Nonsense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1245809	28530257	52664953	254	32977											
TNS4	84951	broad.mit.edu	37	chr17	38633892	38633892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaccaggccgatgacctgcGaggctggctggaccatgtca	8	7	13	13	2	2	1	2	1	0	0	2	4	2	2	4	4	1	2	4	4	0	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:38633892G>A	ENST00000254051.6	-	13	2254	c.2096C>T	c.(2095-2097)tCg>tTg	p.S699L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	699	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GATGACCTGCGAGGCTGGCTG	0.587													9	72					0	0	0	0	A	38633892	G	A	38633892	3	1	186	1	0	0	0	0	1	0	0	0	16439	1059	37	1	55	1	TNS4	17	38633892	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	10103635	38633892	42561318	255	32978											
KRT12	3859	broad.mit.edu	37	chr17	39019596	39019596	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtcctccagggatttcttCtgcacgtgggagggaaatgg	8	10	15	8	1	2	0	0	0	2	0	4	4	4	3	2	4	1	1	2	4	1	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:39019596C>T	ENST00000251643.4	-	6	1119		c.e6-1			NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12						visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GGGATTTCTTCTGCACGTGGG	0.552													3	12					0	0	0	0	T	39019596	C	T	39019596	5	4	186	1	0	0	0	0	0	0	1	0	8501	927	32	2	401	2	KRT12	17	39019596	Splice_Site	SNP	C	TCGA-CR-6484-01A-11D-1870-08	385704	39019596	42175614	256	32979											
HELZ	9931	broad.mit.edu	37	chr17	65083187	65083187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaagggccgaccaggtcctCtgggctcatactacacaaag	12	6	10	13	1	2	0	1	0	1	0	3	1	3	0	3	3	2	1	3	3	4	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:65083187C>G	ENST00000358691.5	-	32	5418	c.5252G>C	c.(5251-5253)aGa>aCa	p.R1751T	HELZ_ENST00000580168.1_Missense_Mutation_p.R1752T	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ACCAGGTCCTCTGGGCTCATA	0.428													8	36					0	0	0	0	G	65083187	C	G	65083187	3	3	186	1	0	0	0	0	1	0	0	0	7099	913	32	2	584	2	HELZ	17	65083187	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	26063591	65083187	16112023	257	32980											
CANT1	124583	broad.mit.edu	37	chr17	76989755	76989755	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgctgtcctcctcggatttGagggccacaatgatctggtc	6	11	11	13	2	1	2	0	2	1	0	5	3	3	3	4	3	0	1	4	3	1	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:76989755G>C	ENST00000302345.2	-	4	1577	c.1083C>G	c.(1081-1083)ctC>ctG	p.L361L	CANT1_ENST00000392446.5_Silent_p.L361L|CANT1_ENST00000591773.1_Silent_p.L361L	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	361					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CCTCGGATTTGAGGGCCACAA	0.607			T	ETV4	prostate						OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	55					0	0	0	0	C	76989755	G	C	76989755	2	2	186	1	0	0	0	0	0	0	0	1	2642	1277	45	2		2	CANT1	17	76989755	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	11906568	76989755	4205455	258	32981											
SMAD2	4087	broad.mit.edu	37	chr18	45374862	45374862	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacctatatgccttcttgtCatttctaccgtggcatttcg	7	17	6	11	2	3	0	1	0	2	0	4	0	3	0	3	1	3	1	3	1	4	8			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr18:45374862C>G	ENST00000402690.2	-	8	1375	c.981G>C	c.(979-981)atG>atC	p.M327I	SMAD2_ENST00000591214.1_Missense_Mutation_p.M297I|SMAD2_ENST00000356825.4_Missense_Mutation_p.M297I|SMAD2_ENST00000262160.6_Missense_Mutation_p.M327I|SMAD2_ENST00000586040.1_Missense_Mutation_p.M297I	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	327	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GCCTTCTTGTCATTTCTACCG	0.398													7	64					0	0	0	0	G	45374862	C	G	45374862	3	3	186	1	0	0	0	0	1	0	0	0	14846	826	29	2	438	2	SMAD2	18	45374862	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08		45374862	32702386	259	32982											
RPS15	6209	broad.mit.edu	37	chr19	1440120	1440120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcgcctgcgcaaggccaaGaaggaggcgccgcccatgga	11	2	15	13	4	0	1	0	0	0	1	0	3	0	3	4	4	2	1	4	4	4	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:1440120G>C	ENST00000591804.2	+	4	419	c.93G>C	c.(91-93)aaG>aaC	p.K31N	RPS15_ENST00000593052.1_Missense_Mutation_p.K71N|RPS15_ENST00000591032.1_Missense_Mutation_p.K31N|RPS15_ENST00000233609.4_Missense_Mutation_p.K37N|RPS15_ENST00000589656.2_Missense_Mutation_p.K64N|RPS15_ENST00000586686.2_Missense_Mutation_p.K64N|RPS15_ENST00000585665.1_Missense_Mutation_p.K31N|RPS15_ENST00000586096.2_Missense_Mutation_p.K64N			P62841	RS15_HUMAN	ribosomal protein S15	64					endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding	p.K64K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		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)		GCAAGGCCAAGAAGGAGGCGC	0.662													3	17					0	0	0	0	C	1440120	G	C	1440120	3	2	186	1	0	0	0	0	1	0	0	0	13710	933	33	2	202	2	RPS15	19	1440120	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08		1440120	57688863	260	32983											
LMNB2	84823	broad.mit.edu	37	chr19	2444431	2444431	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcgtccaactctgccctCagcttcccaatctctatctg	7	12	4	18	1	4	0	1	0	3	0	8	0	6	0	4	0	3	1	4	0	3	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:2444431C>G	ENST00000325327.3	-	2	434	c.372G>C	c.(370-372)ctG>ctC	p.L124L	LMNB2_ENST00000582871.1_Silent_p.L104L			Q03252	LMNB2_HUMAN	lamin B2	104	Coil 1B.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		ACTCTGCCCTCAGCTTCCCAA	0.652													6	41					0	0	0	0	G	2444431	C	G	2444431	2	3	186	1	0	0	0	0	0	0	0	1	8905	813	29	2		2	LMNB2	19	2444431	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1004311	2444431	56684552	261	32984											
LRG1	116844	broad.mit.edu	37	chr19	4538721	4538721	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgcaattcttggagcttaGaggcgccctggaggaggttg	7	10	17	7	1	1	1	0	0	1	1	1	4	1	4	1	6	2	3	1	6	2	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:4538721G>C	ENST00000306390.6	-	2	735	c.275C>G	c.(274-276)tCt>tGt	p.S92C	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'UTR	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	92						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGAGCTTAGAGGCGCCCTG	0.627													6	29					0	0	0	0	C	4538721	G	C	4538721	3	2	186	1	0	0	0	0	1	0	0	0	9006	942	33	2	772	2	LRG1	19	4538721	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	2094290	4538721	54590262	262	32985											
COL5A3	50509	broad.mit.edu	37	chr19	10080263	10080263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccactcaccacagggccaggGatccctcgaagaccctcagg	10	4	10	17	1	2	1	2	0	0	1	4	3	3	2	5	3	0	0	5	3	1	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:10080263G>A	ENST00000264828.3	-	56	4171	c.4086C>T	c.(4084-4086)atC>atT	p.I1362I		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1362	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAGGGCCAGGGATCCCTCGAA	0.672													3	23					0	0	0	0	A	10080263	G	A	10080263	2	1	186	1	0	0	0	0	0	0	0	1	3728	1164	41	2		2	COL5A3	19	10080263	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	5541542	10080263	49048720	263	32986											
DOCK6	57572	broad.mit.edu	37	chr19	11333759	11333759	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaagccaggctggcgttGaggtgctcggccagctccac	9	6	14	12	2	0	2	0	1	0	1	2	2	1	2	3	4	3	4	3	4	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:11333759G>C	ENST00000294618.7	-	25	2990	c.2979C>G	c.(2977-2979)ctC>ctG	p.L993L	DOCK6_ENST00000319867.7_Silent_p.L332L	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	993					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGCTGGCGTTGAGGTGCTCGG	0.617													6	74					0	0	0	0	C	11333759	G	C	11333759	2	2	186	1	0	0	0	0	0	0	0	1	4727	1277	45	2		2	DOCK6	19	11333759	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1253496	11333759	47795224	264	32987											
DNAJB1	3337	broad.mit.edu	37	chr19	14627500	14627500	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctctttccgtcggggttTagccgcttgtgggagatttt	4	16	13	8	3	1	1	0	0	1	1	3	2	2	1	2	3	2	3	2	3	1	6	rs143985567	byFrequency	TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:14627500T>C	ENST00000254322.2	-	2	640	c.570A>G	c.(568-570)ctA>ctG	p.L190L	DNAJB1_ENST00000396969.4_Silent_p.L90L	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	190					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	p.L190L(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		CGTCGGGGTTTAGCCGCTTGT	0.483													4	302					0	0	0	0	C	14627500	T	C	14627500	2	2	186	1	0	0	0	0	0	0	0	1	4651	1741	61	5		5	DNAJB1	19	14627500	Silent	SNP	T	TCGA-CR-6484-01A-11D-1870-08	3293741	14627500	44501483	265	32988											
C19orf44	84167	broad.mit.edu	37	chr19	16614078	16614078	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccatcacaggcgccttttCaaactcagtgtctttaaaga	11	13	6	11	1	4	1	3	0	1	1	5	1	5	1	2	1	1	0	2	1	3	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:16614078C>G	ENST00000221671.3	+	3	1118	c.962C>G	c.(961-963)tCa>tGa	p.S321*	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Nonsense_Mutation_p.S321*	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	321										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GGCGCCTTTTCAAACTCAGTG	0.552													12	111					0	0	0	0	G	16614078	C	G	16614078	4	3	186	1	0	0	0	0	0	1	0	0	1945	838	29	2	968	2	C19orf44	19	16614078	Nonsense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1986578	16614078	42514905	266	32989											
NXNL1	115861	broad.mit.edu	37	chr19	17571473	17571473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggccagctgagccgccCgcagtacatagaactcatct	10	6	10	15	2	2	2	1	1	1	1	2	2	2	2	4	1	4	3	4	1	3	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:17571473C>T	ENST00000301944.2	-	1	290	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	69	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						CTGAGCCGCCCGCAGTACATA	0.587													15	59					0	0	0	0	T	17571473	C	T	17571473	3	4	186	1	0	0	0	0	1	0	0	0	10859	652	23	1	440	1	NXNL1	19	17571473	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	957395	17571473	41557510	267	32990											
UPF1	5976	broad.mit.edu	37	chr19	18943117	18943117	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gacacacagggctccgagttCgagttcaccgactttactct	9	10	9	13	3	2	0	1	0	1	0	4	4	3	0	2	1	1	3	2	1	1	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:18943117C>G	ENST00000262803.5	+	1	371	c.99C>G	c.(97-99)ttC>ttG	p.F33L	UPF1_ENST00000599848.1_Missense_Mutation_p.F33L	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	33	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCTCCGAGTTCGAGTTCACCG	0.731													21	69					0	0	0	0	G	18943117	C	G	18943117	3	3	186	1	0	0	0	0	1	0	0	0	17099	883	31	3	101	3	UPF1	19	18943117	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1371644	18943117	40185866	268	32991											
ZNF90	7643	broad.mit.edu	37	chr19	20229332	20229332	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtggcaaagccttcaaGctctcctcaatccttagtac	11	11	7	12	0	3	0	2	0	1	0	5	1	4	0	3	1	3	3	3	1	6	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:20229332G>A	ENST00000418063.2	+	4	1081	c.969G>A	c.(967-969)aaG>aaA	p.K323K	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	323						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						AAGCCTTCAAGCTCTCCTCAA	0.418													5	36					0	0	0	0	A	20229332	G	A	20229332	2	1	186	1	0	0	0	0	0	0	0	1	18292	962	34	4		4	ZNF90	19	20229332	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1286215	20229332	38899651	269	32992											
ZNF429	353088	broad.mit.edu	37	chr19	21720644	21720644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaaccctacaaatgtgaaGaatgtggcaaagcttttaat	17	10	8	6	0	0	3	0	1	0	2	0	3	0	3	1	1	3	2	1	1	7	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:21720644G>C	ENST00000358491.4	+	4	1997	c.1789G>C	c.(1789-1791)Gaa>Caa	p.E597Q	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CAAATGTGAAGAATGTGGCAA	0.358													6	58					0	0	0	0	C	21720644	G	C	21720644	3	2	186	1	0	0	0	0	1	0	0	0	17997	943	33	2	1803	2	ZNF429	19	21720644	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1491312	21720644	37408339	270	32993											
ZNF681	148213	broad.mit.edu	37	chr19	23927132	23927132	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttatgtctagtaaggtgtGaggacttgttaaaagctttg	10	16	11	4	0	2	1	0	1	2	0	2	2	2	2	0	2	1	3	0	2	5	6			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:23927132G>C	ENST00000402377.3	-	4	1361	c.1220C>G	c.(1219-1221)tCa>tGa	p.S407*	ZNF681_ENST00000395385.3_Nonsense_Mutation_p.S338*	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S338L(1)|p.S407L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTAAGGTGTGAGGACTTGTT	0.398													8	71					0	0	0	0	C	23927132	G	C	23927132	4	2	186	1	0	0	0	0	0	1	0	0	18183	1294	45	2	721	2	ZNF681	19	23927132	Nonsense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	2206488	23927132	35201851	271	32994											
ZNF536	9745	broad.mit.edu	37	chr19	31039498	31039498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgcctccctcccgggctcctCggtaactgtgcaggacagca	6	7	11	17	3	0	0	0	0	0	0	4	1	3	1	4	3	3	4	4	3	1	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:31039498C>G	ENST00000355537.3	+	4	3119	c.2972C>G	c.(2971-2973)tCg>tGg	p.S991W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	991					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGGGCTCCTCGGTAACTGTG	0.577													10	68					0	0	0	0	G	31039498	C	G	31039498	3	3	186	1	0	0	0	0	1	0	0	0	18069	893	31	3	2982	3	ZNF536	19	31039498	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	7112366	31039498	28089485	272	32995											
GPATCH1	55094	broad.mit.edu	37	chr19	33592477	33592477	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctaaacctttatcttctaaGaaagtaagaaaaactttttt	16	16	3	6	0	3	2	0	0	3	2	3	2	3	2	1	0	2	1	1	0	8	9			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:33592477G>C	ENST00000170564.2	+	9	1391	c.1077G>C	c.(1075-1077)aaG>aaC	p.K359N		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	359						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TATCTTCTAAGAAAGTAAGAA	0.303													9	48					0	0	0	0	C	33592477	G	C	33592477	3	2	186	1	0	0	0	0	1	0	0	0	6639	933	33	2	1111	2	GPATCH1	19	33592477	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	2552979	33592477	25536506	273	32996											
PDCD2L	84306	broad.mit.edu	37	chr19	34912556	34912556	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagcactggtcagcatgctCaagagtgctaatttaggtga	11	10	11	9	0	2	2	2	1	0	1	2	2	2	2	1	2	4	4	1	2	3	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:34912556C>G	ENST00000246535.3	+	6	977	c.930C>G	c.(928-930)ctC>ctG	p.L310L	PDCD2L_ENST00000587065.2_Silent_p.L8L	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	310						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCAGCATGCTCAAGAGTGCTA	0.408													13	102					0	0	0	0	G	34912556	C	G	34912556	2	3	186	1	0	0	0	0	0	0	0	1	11691	813	29	2		2	PDCD2L	19	34912556	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1320079	34912556	24216427	274	32997											
WDR62	284403	broad.mit.edu	37	chr19	36594781	36594781	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcgcccaagtctcccagctCctgagtcccctggccttcct	4	11	7	19	1	1	1	0	1	1	0	6	1	4	1	7	1	1	1	7	1	1	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:36594781C>G	ENST00000401500.2	+	30	4086	c.4051C>G	c.(4051-4053)Cct>Gct	p.P1351A	WDR62_ENST00000270301.7_Missense_Mutation_p.P1346A	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1346					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTCCCAGCTCCTGAGTCCCC	0.687													8	60					0	0	0	0	G	36594781	C	G	36594781	3	3	186	1	0	0	0	0	1	0	0	0	17409	855	30	2	4169	2	WDR62	19	36594781	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1682225	36594781	22534202	275	32998											
ZNF574	64763	broad.mit.edu	37	chr19	42584276	42584276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggcaagatgttcaagaaGaagtctcacgtgcgtaacca	13	9	11	8	2	2	3	2	0	1	3	3	3	2	3	1	1	2	3	1	1	5	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:42584276G>C	ENST00000600245.1	+	2	2173	c.1518G>C	c.(1516-1518)aaG>aaC	p.K506N	ZNF574_ENST00000359044.4_Missense_Mutation_p.K506N|ZNF574_ENST00000222339.7_Missense_Mutation_p.K596N			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TGTTCAAGAAGAAGTCTCACG	0.582													32	221					0	0	0	0	C	42584276	G	C	42584276	3	2	186	1	0	0	0	0	1	0	0	0	18101	933	33	2	1520	2	ZNF574	19	42584276	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	5989495	42584276	16544707	276	32999											
CIC	23152	broad.mit.edu	37	chr19	42797308	42797308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgccccagagtctgagcttGaggggcagcccacaccacca	9	5	11	16	0	1	3	0	2	1	1	1	3	1	3	5	2	3	2	5	2	0	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:42797308G>C	ENST00000572681.2	+	16	6459	c.6391G>C	c.(6391-6393)Gag>Cag	p.E2131Q	CIC_ENST00000575354.2_Missense_Mutation_p.E1224Q|CIC_ENST00000160740.3_Missense_Mutation_p.E1222Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTCTGAGCTTGAGGGGCAGCC	0.716			"Mis, F, S"		oligodendroglioma								3	15					0	0	0	0	C	42797308	G	C	42797308	3	2	186	1	0	0	0	0	1	0	0	0	3453	1291	45	2	3728	2	CIC	19	42797308	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	213032	42797308	16331675	277	33000											
ZC3H4	23211	broad.mit.edu	37	chr19	47570821	47570821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggaatgaaggctgccttCgggcttggaggtgggcaggg	6	8	20	7	1	0	1	0	1	0	0	1	3	0	3	1	7	1	4	1	7	2	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:47570821C>T	ENST00000253048.5	-	15	2741	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	902							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGCTGCCTTCGGGCTTGGAG	0.697													5	22					0	0	0	0	T	47570821	C	T	47570821	3	4	186	1	0	0	0	0	1	0	0	0	17665	893	31	1	1211	1	ZC3H4	19	47570821	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	4773513	47570821	11558162	278	33001											
PRR12	57479	broad.mit.edu	37	chr19	50099779	50099779	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaggctgaaggagaagaaGaaagggccagagcggggtgg	13	2	22	4	1	0	5	0	1	0	4	0	7	0	6	1	7	1	1	1	7	4	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:50099779G>C	ENST00000418929.2	+	4	2199	c.2187G>C	c.(2185-2187)aaG>aaC	p.K729N		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	453							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)		AGGAGAAGAAGAAAGGGCCAG	0.652													5	15					0	0	0	0	C	50099779	G	C	50099779	3	2	186	1	0	0	0	0	1	0	0	0	12664	933	33	2	2201	2	PRR12	19	50099779	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	2528958	50099779	9029204	279	33002											
IL4I1	259307	broad.mit.edu	37	chr19	50394716	50394716	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctgcagcccagtgccttGaggtctttgagggcctgttg	4	14	13	10	0	2	2	0	2	2	0	2	2	2	2	3	2	3	2	3	2	0	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:50394716G>C	ENST00000595948.1	-	8	1268	c.648C>G	c.(646-648)ctC>ctG	p.L216L	IL4I1_ENST00000391826.2_Silent_p.L194L|IL4I1_ENST00000341114.3_Silent_p.L216L	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	194						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CCAGTGCCTTGAGGTCTTTGA	0.587													17	116					0	0	0	0	C	50394716	G	C	50394716	2	2	186	1	0	0	0	0	0	0	0	1	7750	1277	45	2		2	IL4I1	19	50394716	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	294937	50394716	8734267	280	33003											
POLD1	5424	broad.mit.edu	37	chr19	50902122	50902122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggatggatggcaagcGgcggccaggcccagggcccg	8	2	18	13	3	0	0	0	0	0	0	0	2	0	2	3	7	2	2	3	7	1	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:50902122G>A	ENST00000440232.2	+	2	67	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	POLD1_ENST00000595904.1_Missense_Mutation_p.R5Q|POLD1_ENST00000599857.1_Missense_Mutation_p.R5Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	5			R -> W (in dbSNP:rs9282830).		base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GATGGCAAGCGGCGGCCAGGC	0.647								DNA polymerases (catalytic subunits)					9	16					0	0	0	0	A	50902122	G	A	50902122	3	1	186	1	0	0	0	0	1	0	0	0	12262	1116	39	1	16	1	POLD1	19	50902122	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	507406	50902122	8226861	281	33004											
ZNF614	80110	broad.mit.edu	37	chr19	52519444	52519444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catctctcatgttgtatgagGcatattttctggctgaaggc	8	15	10	8	0	3	2	1	2	2	0	4	2	3	2	0	3	0	4	0	3	3	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:52519444G>A	ENST00000270649.6	-	5	1951	c.1407C>T	c.(1405-1407)tgC>tgT	p.C469C	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTTGTATGAGGCATATTTTCT	0.413													4	137					0	0	0	0	A	52519444	G	A	52519444	2	1	186	1	0	0	0	0	0	0	0	1	18134	1195	42	4		4	ZNF614	19	52519444	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1617322	52519444	6609539	282	33005											
LILRB5	10990	broad.mit.edu	37	chr19	54758764	54758764	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgactttagacacagcggGggatgggctgccccctcctt	6	11	12	12	1	0	2	0	1	0	1	1	3	1	3	3	3	2	1	3	3	1	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:54758764G>A	ENST00000450632.1	-	6	1139	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	LILRB5_ENST00000449561.2_Silent_p.P363P|LILRB5_ENST00000345866.6_Silent_p.P263P|LILRB5_ENST00000316219.5_Silent_p.P363P			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	363	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACACAGCGGGGGATGGGCTG	0.547													5	53					0	0	0	0	A	54758764	G	A	54758764	2	1	186	1	0	0	0	0	0	0	0	1	8848	1219	43	4		4	LILRB5	19	54758764	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	2239320	54758764	4370219	283	33006											
TMEM150B	284417	broad.mit.edu	37	chr19	55824272	55824272	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggaggccggcggggggctGaggctgggccacggctgaac	5	3	23	10	3	0	2	0	2	0	0	0	3	0	3	2	10	1	3	2	10	1	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:55824272G>A	ENST00000326652.4	-	8	839	c.657C>T	c.(655-657)ctC>ctT	p.L219L	TMEM150B_ENST00000438693.1_Silent_p.L219L			A6NC51	T150B_HUMAN	transmembrane protein 150B	219						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GCGGGGGGCTGAGGCTGGGCC	0.672													5	9					0	0	0	0	A	55824272	G	A	55824272	2	1	186	1	0	0	0	0	0	0	0	1	16162	1277	45	2		2	TMEM150B	19	55824272	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	1065508	55824272	3304711	284	33007											
EPN1	29924	broad.mit.edu	37	chr19	56204355	56204355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggagcccgacgagttctctGactttgaccgactccgcacg	7	8	11	15	6	1	2	0	2	1	0	3	6	2	3	3	1	1	2	3	1	0	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:56204355G>C	ENST00000411543.2	+	9	2021	c.1474G>C	c.(1474-1476)Gac>Cac	p.D492H	EPN1_ENST00000085079.7_Missense_Mutation_p.D380H|EPN1_ENST00000270460.6_Missense_Mutation_p.D406H	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	406	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CGAGTTCTCTGACTTTGACCG	0.701													19	121					0	0	0	0	C	56204355	G	C	56204355	3	2	186	1	0	0	0	0	1	0	0	0	5223	1290	45	2	1587	2	EPN1	19	56204355	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	380083	56204355	2924628	285	33008											
NLRP13	126204	broad.mit.edu	37	chr19	56423845	56423845	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtagtctgagtgattgaCtggagatcgtaatacctcac	10	12	12	7	1	2	4	1	3	1	1	3	5	2	4	1	2	1	2	1	2	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:56423845C>T	ENST00000588751.1	-	5	1362	c.1338G>A	c.(1336-1338)caG>caA	p.Q446Q	NLRP13_ENST00000342929.3_Silent_p.Q446Q			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	446	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAGTGATTGACTGGAGATCGT	0.478													13	108					0	0	0	0	T	56423845	C	T	56423845	2	4	186	1	0	0	0	0	0	0	0	1	10545	564	20	4		4	NLRP13	19	56423845	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	219490	56423845	2705138	286	33009											
ZNF304	57343	broad.mit.edu	37	chr19	57866643	57866643	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtttgcgttacagctttCattttcccagtcccatgcag	6	17	7	11	1	1	0	1	0	0	0	3	0	3	0	2	0	4	4	2	0	1	6			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:57866643C>T	ENST00000443917.2	+	3	504	c.165C>T	c.(163-165)ttC>ttT	p.F55F	ZNF304_ENST00000598744.1_Intron|ZNF304_ENST00000282286.5_Intron|ZNF304_ENST00000391705.3_Intron			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	53	KRAB.				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)		TTACAGCTTTCATTTTCCCAG	0.502													4	45					0	0	0	0	T	57866643	C	T	57866643	2	4	186	1	0	0	0	0	0	0	0	1	17928	841	29	2		2	ZNF304	19	57866643	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1442798	57866643	1262340	287	33010											
PTPRA	5786	broad.mit.edu	37	chr20	3007774	3007774	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcttcttacagatgaattCaacagagtgatcattccagt	13	14	6	8	0	4	4	2	2	2	2	5	4	5	4	1	0	2	0	1	0	3	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:3007774C>G	ENST00000216877.6	+	18	2089	c.1689C>G	c.(1687-1689)ttC>ttG	p.F563L	PTPRA_ENST00000318266.5_Missense_Mutation_p.F563L|PTPRA_ENST00000399903.2_Missense_Mutation_p.F572L|PTPRA_ENST00000356147.3_Missense_Mutation_p.F563L|PTPRA_ENST00000358719.4_Missense_Mutation_p.F428L|PTPRA_ENST00000425918.2_Missense_Mutation_p.F583L|PTPRA_ENST00000380393.3_Missense_Mutation_p.F572L	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	572	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGATGAATTCAACAGAGTGA	0.493													9	107					0	0	0	0	G	3007774	C	G	3007774	3	3	186	1	0	0	0	0	1	0	0	0	12877	825	29	2	1778	2	PTPRA	20	3007774	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08		3007774	60017746	288	33011											
RNF24	11237	broad.mit.edu	37	chr20	3944599	3944599	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaccacaatatatatgttGagaggcagattctggaatcc	16	10	8	7	0	1	2	0	1	1	2	2	4	2	3	2	2	1	2	2	2	7	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:3944599G>A	ENST00000336095.5	-	2	317	c.66C>T	c.(64-66)ctC>ctT	p.L22L	RNF24_ENST00000432261.2_Silent_p.L43L|RNF24_ENST00000358395.6_Silent_p.L22L|RNF24_ENST00000545616.1_Silent_p.L43L	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	22						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						TATATATGTTGAGAGGCAGAT	0.363													7	62					0	0	0	0	A	3944599	G	A	3944599	2	1	186	1	0	0	0	0	0	0	0	1	13569	1277	45	2		2	RNF24	20	3944599	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	936825	3944599	59080921	289	33012											
RRBP1	6238	broad.mit.edu	37	chr20	17623689	17623689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgatgagccgctgggcctCgccctcgttgaacaccatgc	6	8	11	16	4	0	2	0	2	0	0	3	3	0	2	4	1	3	2	4	1	1	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:17623689C>T	ENST00000377813.1	-	4	2299	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	RRBP1_ENST00000455029.2_Missense_Mutation_p.E7K|RRBP1_ENST00000360807.4_Missense_Mutation_p.E233K|RRBP1_ENST00000246043.4_Missense_Mutation_p.E666K|RRBP1_ENST00000377807.2_Missense_Mutation_p.E233K			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	666					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CGCTGGGCCTCGCCCTCGTTG	0.637													8	44					0	0	0	0	T	17623689	C	T	17623689	3	4	186	1	0	0	0	0	1	0	0	0	13763	893	31	1	2324	1	RRBP1	20	17623689	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	13679090	17623689	45401831	290	33013											
RIN2	54453	broad.mit.edu	37	chr20	19981362	19981362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgtgtcagatctgcgctGagaagttcaaggtgggggac	9	10	16	6	1	3	2	2	1	1	2	3	4	3	3	0	3	1	2	0	3	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:19981362G>C	ENST00000255006.6	+	12	2766	c.2617G>C	c.(2617-2619)Gag>Cag	p.E873Q	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.E391Q	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	824	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GATCTGCGCTGAGAAGTTCAA	0.517													13	118					0	0	0	0	C	19981362	G	C	19981362	3	2	186	1	0	0	0	0	1	0	0	0	13457	1291	45	2	2512	2	RIN2	20	19981362	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	2357673	19981362	43044158	291	33014											
CST9L	128821	broad.mit.edu	37	chr20	23546668	23546668	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcaatgtcgtcttcaaatttCccacacctagttctccccag	9	13	4	15	1	4	0	2	0	2	0	7	0	5	0	4	0	0	1	4	0	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:23546668C>G	ENST00000376979.3	-	2	595	c.297G>C	c.(295-297)ggG>ggC	p.G99G		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	99						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CTTCAAATTTCCCACACCTAG	0.468													22	205					0	0	0	0	G	23546668	C	G	23546668	2	3	186	1	0	0	0	0	0	0	0	1	4012	842	30	2		2	CST9L	20	23546668	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08	3565306	23546668	39478852	292	33015											
R3HDML	140902	broad.mit.edu	37	chr20	42965898	42965898	+	Frame_Shift_Del	DEL	C	C	-																															taatgctaccccagccccggCccagcccgagagcacggcta																										TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:42965898delC	ENST00000217043.2	+	1	273	c.101delC	c.(100-102)gcfs	p.A34fs		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	34						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCAGCCCCGGCCCAGCCCGAG	0.647													13	74	---	---	---	---					-	42965898	C	-	42965898	7	5	186	1	0	1	0	1	0	0	0	0	12971	739	26	0	103	0	R3HDML	20	42965898	Frame_Shift_Del	DEL	C	TCGA-CR-6484-01A-11D-1870-08	19419230	42965898	20059622	293	33016											
CSE1L	1434	broad.mit.edu	37	chr20	47691914	47691914	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggattatgcaagttttttGagggacctgtgacaggaatc	11	12	13	5	0	0	2	0	2	0	0	1	6	0	5	1	3	1	2	1	3	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:47691914G>C	ENST00000262982.2	+	12	1315	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q	CSE1L_ENST00000396192.3_Missense_Mutation_p.E342Q|CSE1L_ENST00000542325.1_Missense_Mutation_p.E181Q	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	398					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CAAGTTTTTTGAGGGACCTGT	0.383													7	97					0	0	0	0	C	47691914	G	C	47691914	3	2	186	1	0	0	0	0	1	0	0	0	3962	1291	45	2	1234	2	CSE1L	20	47691914	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	4726016	47691914	15333606	294	33017											
SRMS	6725	broad.mit.edu	37	chr20	62172623	62172623	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgtctgacttctgggagaaGacacgataattggccgcctc	10	9	11	11	3	2	3	0	1	2	2	3	5	2	3	2	2	0	0	2	2	2	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:62172623G>C	ENST00000217188.1	-	7	1246	c.1206C>G	c.(1204-1206)gtC>gtG	p.V402V		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	402	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TCTGGGAGAAGACACGATAAT	0.617													18	160					0	0	0	0	C	62172623	G	C	62172623	2	2	186	1	0	0	0	0	0	0	0	1	15242	929	33	2		2	SRMS	20	62172623	Silent	SNP	G	TCGA-CR-6484-01A-11D-1870-08	14480709	62172623	852897	295	33018											
RGS19	10287	broad.mit.edu	37	chr20	62705602	62705602	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcctcgcaggccaaccaGaagagcatgttctcctcgct	9	8	9	15	2	1	2	0	0	1	2	5	2	2	2	4	1	3	5	4	1	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:62705602G>C	ENST00000395042.1	-	5	623	c.357C>G	c.(355-357)ttC>ttG	p.F119L	RGS19_ENST00000332298.5_Missense_Mutation_p.F119L	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	119	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					AGGCCAACCAGAAGAGCATGT	0.607													4	29					0	0	0	0	C	62705602	G	C	62705602	3	2	186	1	0	0	0	0	1	0	0	0	13384	933	33	2	304	2	RGS19	20	62705602	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	532979	62705602	319918	296	33019											
HIRA	7290	broad.mit.edu	37	chr22	19384358	19384358	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccaactgccagtccagcgtCctccacacctttaggctgcg	7	9	8	17	2	0	0	0	0	0	0	4	0	4	0	6	1	4	1	6	1	2	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:19384358C>T	ENST00000263208.5	-	7	862	c.606G>A	c.(604-606)agG>agA	p.R202R	HIRA_ENST00000340170.4_Silent_p.R202R|HIRA_ENST00000541063.1_Silent_p.R158R|HIRA_ENST00000546308.1_Silent_p.R158R	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	202					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGTCCAGCGTCCTCCACACCT	0.557													8	79					0	0	0	0	T	19384358	C	T	19384358	2	4	186	1	0	0	0	0	0	0	0	1	7170	854	30	2		2	HIRA	22	19384358	Silent	SNP	C	TCGA-CR-6484-01A-11D-1870-08		19384358	31920208	297	33020											
DGCR8	54487	broad.mit.edu	37	chr22	20094865	20094865	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcacccacatgtcaagAactgggggtctttactgcgc	8	10	11	12	1	2	1	1	0	1	1	2	1	2	1	1	2	5	2	1	2	3	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:20094865A>G	ENST00000351989.3	+	12	2497	c.2068A>G	c.(2068-2070)Aac>Gac	p.N690D	DGCR8_ENST00000383024.2_Missense_Mutation_p.N657D|DGCR8_ENST00000407755.1_Missense_Mutation_p.N657D	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	690	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					ACATGTCAAGAACTGGGGGTC	0.537													6	108					0	0	0	0	G	20094865	A	G	20094865	3	3	186	1	0	0	0	0	1	0	0	0	4501	246	9	5	2110	5	DGCR8	22	20094865	Missense_Mutation	SNP	A	TCGA-CR-6484-01A-11D-1870-08	710507	20094865	31209701	298	33021											
ZNF74	7625	broad.mit.edu	37	chr22	20755021	20755021	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtaccgggatgtgatgttgGagaactaccagaaccttctt	10	12	11	8	1	1	3	0	1	1	2	1	5	1	4	3	2	4	2	3	2	4	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:20755021G>C	ENST00000400451.2	+	3	734	c.220G>C	c.(220-222)Gag>Cag	p.E74Q	ZNF74_ENST00000403682.3_Missense_Mutation_p.G45A|ZNF74_ENST00000356671.5_Missense_Mutation_p.E74Q|ZNF74_ENST00000405993.1_Missense_Mutation_p.E74Q|ZNF74_ENST00000357502.5_Missense_Mutation_p.G79A	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	74	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGTGATGTTGGAGAACTACCA	0.542													9	134					0	0	0	0	C	20755021	G	C	20755021	3	2	186	1	0	0	0	0	1	0	0	0	18221	1175	41	2	230	2	ZNF74	22	20755021	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	660156	20755021	30549545	299	33022											
PITPNB	23760	broad.mit.edu	37	chr22	28293876	28293876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctcacgaatgcaggcaCtttgctgggagaagagagat	12	8	12	9	1	1	3	1	0	0	3	2	6	2	3	1	2	2	3	1	2	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:28293876C>G	ENST00000335272.5	-	4	278	c.202G>C	c.(202-204)Gtg>Ctg	p.V68L	PITPNB_ENST00000320996.10_Missense_Mutation_p.V68L|PITPNB_ENST00000455418.3_Missense_Mutation_p.V70L	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	68					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						AATGCAGGCACTTTGCTGGGA	0.458													11	97					0	0	0	0	G	28293876	C	G	28293876	3	3	186	1	0	0	0	0	1	0	0	0	12020	565	20	4	645	4	PITPNB	22	28293876	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	7538855	28293876	23010690	300	33023											
NF2	4771	broad.mit.edu	37	chr22	30038255	30038255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttctgtgctcctggcttCttacgccgtccaggccaagg	4	11	12	14	2	2	0	0	0	2	0	4	0	4	0	4	4	2	3	4	4	2	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:30038255C>T	ENST00000338641.4	+	4	869	c.428C>T	c.(427-429)tCt>tTt	p.S143F	NF2_ENST00000397789.3_Missense_Mutation_p.S143F|NF2_ENST00000347330.5_Missense_Mutation_p.S60F|NF2_ENST00000403435.1_Missense_Mutation_p.S143F|NF2_ENST00000413209.2_Missense_Mutation_p.S143F|NF2_ENST00000361452.4_Missense_Mutation_p.S102F|NF2_ENST00000403999.3_Missense_Mutation_p.S143F|NF2_ENST00000353887.4_Missense_Mutation_p.S60F|NF2_ENST00000334961.7_Missense_Mutation_p.S60F|NF2_ENST00000361676.4_Missense_Mutation_p.S101F|NF2_ENST00000361166.4_Missense_Mutation_p.S143F	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	143	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(5)|p.?(2)|p.Y144fs*5(1)|p.K123fs*2(1)|p.A142fs*8(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CTCCTGGCTTCTTACGCCGTC	0.458			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				12	97					0	0	0	0	T	30038255	C	T	30038255	3	4	186	1	0	0	0	0	1	0	0	0	10427	913	32	2	442	2	NF2	22	30038255	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1744379	30038255	21266311	301	33024											
SEC14L4	284904	broad.mit.edu	37	chr22	30891384	30891384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagtacacagggcagccttCgtagtcgtagccacaaagac	13	6	11	11	2	0	1	0	0	0	1	2	2	0	1	2	1	3	4	2	1	5	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:30891384C>T	ENST00000392772.2	-	5	395	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	SEC14L4_ENST00000255858.7_Missense_Mutation_p.E94K|SEC14L4_ENST00000540456.1_Missense_Mutation_p.E79K|SEC14L4_ENST00000381982.3_Missense_Mutation_p.E94K			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	94						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGGCAGCCTTCGTAGTCGTAG	0.562													7	42					0	0	0	0	T	30891384	C	T	30891384	3	4	186	1	0	0	0	0	1	0	0	0	14071	893	31	1	978	1	SEC14L4	22	30891384	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	853129	30891384	20413182	302	33025											
SFI1	9814	broad.mit.edu	37	chr22	31927062	31927062	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgcgtggccagaaagttCttatatttatggattcgaat	12	14	10	5	2	1	2	0	0	1	2	2	4	1	3	1	2	1	1	1	2	5	6			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:31927062C>G	ENST00000432498.1	+	4	678	c.285C>G	c.(283-285)ttC>ttG	p.F95L	SFI1_ENST00000414585.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000443326.1_Intron|SFI1_ENST00000540643.1_Intron|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000400288.2_Missense_Mutation_p.F95L	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	95					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						CCAGAAAGTTCTTATATTTAT	0.358													5	85					0	0	0	0	G	31927062	C	G	31927062	3	3	186	1	0	0	0	0	1	0	0	0	14243	912	32	2	295	2	SFI1	22	31927062	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1035678	31927062	19377504	303	33026											
NLGN4X	57502	broad.mit.edu	37	chrX	5821900	5821900	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctctgaatgatggccttctgGaagagacctgcaggtgcaaa	11	9	12	9	0	2	3	0	2	2	1	2	5	2	4	2	3	2	2	2	3	3	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:5821900G>C	ENST00000381095.3	-	5	1446	c.819C>G	c.(817-819)ttC>ttG	p.F273L	NLGN4X_ENST00000381093.2_Missense_Mutation_p.F293L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.F273L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.F273L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.F273L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	273					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGCCTTCTGGAAGAGACCTG	0.527													9	66					0	0	0	0	C	5821900	G	C	5821900	3	2	186	1	0	0	0	0	1	0	0	0	10534	1165	41	2	1639	2	NLGN4X	23	5821900	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08		5821900	149448660	304	33027											
TBL1X	6907	broad.mit.edu	37	chrX	9683006	9683006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaggtgtgctggaacgcccGaggagacaaagtgggtgcca	10	5	17	9	3	0	1	0	0	0	1	0	5	0	2	2	4	3	1	2	4	2	0			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:9683006G>A	ENST00000217964.7	+	17	2310	c.1670G>A	c.(1669-1671)cGa>cAa	p.R557Q	TBL1X_ENST00000536365.1_Missense_Mutation_p.R506Q|TBL1X_ENST00000407597.2_Missense_Mutation_p.R557Q|TBL1X_ENST00000380961.1_Missense_Mutation_p.R506Q|TBL1X_ENST00000424279.1_Missense_Mutation_p.R506Q	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	557					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TGGAACGCCCGAGGAGACAAA	0.587													8	29					0	0	0	0	A	9683006	G	A	9683006	3	1	186	1	0	0	0	0	1	0	0	0	15733	1058	37	1	1724	1	TBL1X	23	9683006	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	3861106	9683006	145587554	305	33028											
OFD1	8481	broad.mit.edu	37	chrX	13778324	13778324	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcaatgtggtgccttgcaAtggtgagataagtggggatt	9	12	16	4	0	0	1	0	1	0	1	0	3	0	2	1	5	2	2	1	5	3	3			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:13778324A>T	ENST00000380567.1	+	17	2197	c.1325A>T	c.(1324-1326)aAt>aTt	p.N442I	OFD1_ENST00000380550.3_Missense_Mutation_p.N542I|OFD1_ENST00000340096.6_Missense_Mutation_p.N582I|OFD1_ENST00000490265.1_3'UTR			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	582					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTGCCTTGCAATGGTGAGATA	0.423													19	108					0	0	0	0	T	13778324	A	T	13778324	3	4	186	1	0	0	0	0	1	0	0	0	10909	101	4	5	1807	5	OFD1	23	13778324	Missense_Mutation	SNP	A	TCGA-CR-6484-01A-11D-1870-08	4095318	13778324	141492236	306	33029											
ASB9	140462	broad.mit.edu	37	chrX	15266983	15266983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaatccatgagcaggcaggCcagctcttcactggctgtcc	10	8	10	13	0	2	1	1	1	1	0	4	1	4	1	3	3	2	4	3	3	2	1			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:15266983C>A	ENST00000546332.1	-	7	1126	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.A215S|ASB9_ENST00000380488.4_Missense_Mutation_p.A215S|ASB9_ENST00000380483.3_Missense_Mutation_p.A205S	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	215					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					AGCAGGCAGGCCAGCTCTTCA	0.567													13	60					0.0202918	0.0207317	1	0	A	15266983	C	A	15266983	3	1	186	1	0	0	0	0	1	0	0	0	1034	739	26	4	278	4	ASB9	23	15266983	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	1488659	15266983	140003577	307	33030											
ACE2	59272	broad.mit.edu	37	chrX	15584408	15584408	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaacttcagttctaggaatGatatcagacacatttttagg	13	14	7	7	0	4	2	3	1	1	1	4	3	4	3	0	2	1	1	0	2	5	7			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:15584408G>C	ENST00000427411.1	-	17	2298	c.2082C>G	c.(2080-2082)atC>atG	p.I694M	ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000252519.3_Missense_Mutation_p.I694M	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	694					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TTCTAGGAATGATATCAGACA	0.383													34	171					0	0	0	0	C	15584408	G	C	15584408	3	2	186	1	0	0	0	0	1	0	0	0	137	1280	45	2	347	2	ACE2	23	15584408	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	317425	15584408	139686152	308	33031											
RGN	9104	broad.mit.edu	37	chrX	46949306	46949306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatggtttggattggtcgCtagaccacaaaatcttctat	11	13	8	9	1	2	1	0	0	2	1	3	2	2	2	2	3	0	2	2	3	5	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:46949306C>A	ENST00000397180.1	+	5	1447	c.478C>A	c.(478-480)Cta>Ata	p.L160I	RGN_ENST00000336169.3_Missense_Mutation_p.L160I|RGN_ENST00000457380.1_Intron|RGN_ENST00000352078.4_Missense_Mutation_p.L160I	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	160					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GGATTGGTCGCTAGACCACAA	0.468													4	106					0.150653	0.151862	1	0	A	46949306	C	A	46949306	3	1	186	1	0	0	0	0	1	0	0	0	13364	796	28	4	488	4	RGN	23	46949306	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	31364898	46949306	108321254	309	33032											
HUWE1	10075	broad.mit.edu	37	chrX	53589797	53589797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcggcactctcaccttctCggttggcctgcaaggtggaa	6	10	11	14	2	2	0	1	0	2	0	5	1	2	1	3	5	1	3	3	5	2	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:53589797C>T	ENST00000342160.3	-	52	7656	c.7199G>A	c.(7198-7200)cGa>cAa	p.R2400Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R2400Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2400	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTCACCTTCTCGGTTGGCCTG	0.562													17	84					0	0	0	0	T	53589797	C	T	53589797	3	4	186	1	0	0	0	0	1	0	0	0	7514	884	31	1	6053	1	HUWE1	23	53589797	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	6640491	53589797	101680763	310	33033											
WNK3	65267	broad.mit.edu	37	chrX	54321097	54321097	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttgctgagcgggagcaaGgggtaaagttgtattctggg	9	11	17	4	1	1	1	0	1	1	0	1	2	1	2	0	4	3	6	0	4	4	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:54321097G>C	ENST00000354646.2	-	8	2020	c.1582C>G	c.(1582-1584)Ctt>Gtt	p.L528V	WNK3_ENST00000375169.3_Missense_Mutation_p.L528V|WNK3_ENST00000375159.2_Missense_Mutation_p.L528V	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	528					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GCGGGAGCAAGGGGTAAAGTT	0.478													9	38					0	0	0	0	C	54321097	G	C	54321097	3	2	186	1	0	0	0	0	1	0	0	0	17475	1000	35	4	3888	4	WNK3	23	54321097	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	731300	54321097	100949463	311	33034											
CPXCR1	53336	broad.mit.edu	37	chrX	88008988	88008988	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatagtttcacccatcacgaGagagccataacatttagaag	16	9	7	9	1	2	2	2	0	0	2	2	4	2	2	2	0	2	1	2	0	5	5			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:88008988G>C	ENST00000276127.4	+	3	832	c.573G>C	c.(571-573)gaG>gaC	p.E191D	CPXCR1_ENST00000373111.1_Missense_Mutation_p.E191D	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	191						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CCCATCACGAGAGAGCCATAA	0.423													5	37					0	0	0	0	C	88008988	G	C	88008988	3	2	186	1	0	0	0	0	1	0	0	0	3866	933	33	2	575	2	CPXCR1	23	88008988	Missense_Mutation	SNP	G	TCGA-CR-6484-01A-11D-1870-08	33687891	88008988	67261572	312	33035											
PCDH11X	27328	broad.mit.edu	37	chrX	91134270	91134270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgtccgtacacaccagaCcggtaggtatccaagtttct	9	11	9	12	2	1	1	0	0	1	1	3	1	3	1	4	2	1	4	4	2	4	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:91134270C>G	ENST00000373094.1	+	2	3876	c.3031C>G	c.(3031-3033)Ccg>Gcg	p.P1011A	PCDH11X_ENST00000395337.2_Missense_Mutation_p.P1011A|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1011A|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1011A|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1011A|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P1011A|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1011A|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1011A|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P1011A	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1011					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACACACCAGACCGGTAGGTAT	0.403													18	94					0	0	0	0	G	91134270	C	G	91134270	3	3	186	1	0	0	0	0	1	0	0	0	11579	507	18	4	3037	4	PCDH11X	23	91134270	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	3125282	91134270	64136290	313	33036											
ARMCX2	9823	broad.mit.edu	37	chrX	100911437	100911437	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggacacccagaatctcatCaatttcataaggaaaggggc	14	7	10	10	1	3	1	3	0	1	1	4	3	3	3	1	4	0	0	1	4	4	2			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:100911437C>G	ENST00000328766.5	-	5	1591	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H	ARMCX2_ENST00000330154.2_Missense_Mutation_p.D380H|ARMCX2_ENST00000356824.4_Missense_Mutation_p.D380H	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	380						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGAATCTCATCAATTTCATAA	0.517													17	79					0	0	0	0	G	100911437	C	G	100911437	3	3	186	1	0	0	0	0	1	0	0	0	964	826	29	2	764	2	ARMCX2	23	100911437	Missense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	9777167	100911437	54359123	314	33037											
FLNA	2316	broad.mit.edu	37	chrX	153580056	153580056	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaacttgactgagacttCgtagtcacctgggcagggaa	10	10	13	8	1	1	3	1	3	0	1	2	5	1	4	1	2	1	3	1	2	3	4			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:153580056C>A	ENST00000422373.1	-	42	7140	c.6892G>T	c.(6892-6894)Gaa>Taa	p.E2298*	FLNA_ENST00000344736.4_Nonsense_Mutation_p.E2266*|FLNA_ENST00000369850.3_Nonsense_Mutation_p.E2306*|FLNA_ENST00000369856.3_Nonsense_Mutation_p.E439*|FLNA_ENST00000360319.4_Nonsense_Mutation_p.E2298*	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2306					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTGAGACTTCGTAGTCACCT	0.597													6	34					0.0293803	0.0299362	1	0	A	153580056	C	A	153580056	4	1	186	1	0	0	0	0	0	1	0	0	5978	893	31	3	1051	3	FLNA	23	153580056	Nonsense_Mutation	SNP	C	TCGA-CR-6484-01A-11D-1870-08	52668619	153580056	1690504	315	33038											
NPHP4	261734	broad.mit.edu	37	chr1	5935081	5935081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcagcaggctggcgatgCtctcggccttcgtgcgttcc	3	10	14	14	4	2	0	1	0	1	0	5	1	3	0	2	4	3	5	2	4	0	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:5935081C>A	ENST00000378156.4	-	21	3162	c.2897G>T	c.(2896-2898)aGc>aTc	p.S966I	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	966					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGCGATGCTCTCGGCCTT	0.642													4	27					1.23904e-05	1.26657e-05	1	0	A	5935081	C	A	5935081	3	1	187	1	0	0	0	0	1	0	0	0	10651	797	28	4	1423	4	NPHP4	1	5935081	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08		5935081	243315540	1	33039											
EXOSC10	5394	broad.mit.edu	37	chr1	11151235	11151235	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttttgccatattctgctGcctatgatcaatgaatacaa	11	16	5	9	0	2	2	1	2	1	0	2	2	2	2	2	0	4	1	2	0	6	7			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:11151235G>A	ENST00000544779.1	-	5	484	c.477_splice	c.e5-1	p.A160_splice	EXOSC10_ENST00000304457.7_Splice_Site_p.A160_splice|EXOSC10_ENST00000376936.4_Splice_Site_p.A160_splice			Q01780	EXOSX_HUMAN	exosome component 10	160					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		ATATTCTGCTGCCTATGATCA	0.353													14	67					0	0	0	0	A	11151235	G	A	11151235	5	1	187	1	0	0	0	0	0	0	1	0	5351	1333	46	4	2262	4	EXOSC10	1	11151235	Splice_Site	SNP	G	TCGA-CR-6487-01A-11D-1870-08	5216154	11151235	238099386	2	33040											
MFN2	9927	broad.mit.edu	37	chr1	12056346	12056346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaggcctttctccttaccGagggctcagaggaaaagagg	11	8	13	9	1	2	3	1	1	1	2	3	5	2	4	3	4	1	1	3	4	3	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:12056346G>A	ENST00000235329.5	+	5	767	c.445G>A	c.(445-447)Gag>Aag	p.E149K	MFN2_ENST00000444836.1_Missense_Mutation_p.E149K	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	149					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TCTCCTTACCGAGGGCTCAGA	0.602													6	44					0	0	0	0	A	12056346	G	A	12056346	3	1	187	1	0	0	0	0	1	0	0	0	9593	1059	37	1	455	1	MFN2	1	12056346	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	905111	12056346	237194275	3	33041											
GJB5	2709	broad.mit.edu	37	chr1	35223201	35223201	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgacatgcccctcactgctCgtggtcatgcacgtggccta	6	10	11	14	2	2	1	2	1	0	0	3	1	2	1	3	2	3	2	3	2	1	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:35223201C>T	ENST00000338513.1	+	2	443	c.270C>T	c.(268-270)ctC>ctT	p.L90L		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	90					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CCTCACTGCTCGTGGTCATGC	0.617													17	69					0	0	0	0	T	35223201	C	T	35223201	2	4	187	1	0	0	0	0	0	0	0	1	6462	871	31	1		1	GJB5	1	35223201	Silent	SNP	C	TCGA-CR-6487-01A-11D-1870-08	23166855	35223201	214027420	4	33042											
LMO4	8543	broad.mit.edu	37	chr1	87805751	87805751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttacatgctctacctgcCggaatcgcctggtcccggga	6	11	11	13	3	1	0	0	0	1	0	3	2	2	2	4	3	4	2	4	3	3	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:87805751C>T	ENST00000370544.5	+	4	1135	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	LMO4_ENST00000370542.1_Missense_Mutation_p.R119W|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	119	LIM zinc-binding 2.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		CTCTACCTGCCGGAATCGCCT	0.393													28	113					0	0	0	0	T	87805751	C	T	87805751	3	4	187	1	0	0	0	0	1	0	0	0	8909	643	23	1	365	1	LMO4	1	87805751	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	52582550	87805751	161444870	5	33043											
PKN2	5586	broad.mit.edu	37	chr1	89279371	89279371	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgctgccggtggggaccTaatgatgcacattcatactg	10	11	11	9	1	1	1	1	1	0	0	1	2	1	2	2	3	4	2	2	3	3	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:89279371T>C	ENST00000370521.3	+	16	2593	c.2234T>C	c.(2233-2235)cTa>cCa	p.L745P	PKN2_ENST00000370513.5_Missense_Mutation_p.L697P|PKN2_ENST00000544045.1_Missense_Mutation_p.L419P|PKN2_ENST00000370505.3_Missense_Mutation_p.L588P	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	745	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GGTGGGGACCTAATGATGCAC	0.408													3	176					0	0	0	0	C	89279371	T	C	89279371	3	2	187	1	0	0	0	0	1	0	0	0	12052	1522	53	5	2296	5	PKN2	1	89279371	Missense_Mutation	SNP	T	TCGA-CR-6487-01A-11D-1870-08	1473620	89279371	159971250	6	33044											
ABCA4	24	broad.mit.edu	37	chr1	94505666	94505666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggagaaacccttagaCgagcagctgcaggtcccctg	9	7	14	11	1	0	2	0	0	0	2	1	4	1	2	3	3	4	3	3	3	2	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:94505666C>T	ENST00000370225.3	-	24	3626	c.3540G>A	c.(3538-3540)tcG>tcA	p.S1180S		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1180					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AACCCTTAGACGAGCAGCTGC	0.572											OREG0013610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	12					0	0	0	0	T	94505666	C	T	94505666	2	4	187	1	0	0	0	0	0	0	0	1	34	523	19	1		1	ABCA4	1	94505666	Silent	SNP	C	TCGA-CR-6487-01A-11D-1870-08	5226295	94505666	154744955	7	33045											
LPPR4	9890	broad.mit.edu	37	chr1	99771596	99771596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cattcatgcctctatggattCcgctcgatcaaagcagctcc	9	11	7	14	2	3	0	2	0	1	0	6	2	5	1	3	1	3	3	3	1	2	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:99771596C>T	ENST00000370185.3	+	7	1819	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	LPPR4_ENST00000370184.1_Missense_Mutation_p.S283F|LPPR4_ENST00000457765.1_Missense_Mutation_p.S383F	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		441							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCTATGGATTCCGCTCGATCA	0.498													18	75					0	0	0	0	T	99771596	C	T	99771596	3	4	187	1	0	0	0	0	1	0	0	0	8991	855	30	2	1348	2	LPPR4	1	99771596	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	5265930	99771596	149479025	8	33046											
ADORA3	140	broad.mit.edu	37	chr1	112031442	112031442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggtcaggcaggacataGtgacaatgagctggttccct	9	11	12	9	0	1	2	1	2	0	0	2	3	2	3	1	4	1	3	1	4	2	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:112031442G>A	ENST00000369716.4	-	3	795	c.662C>T	c.(661-663)aCt>aTt	p.T221I	ADORA3_ENST00000369717.4_Missense_Mutation_p.T140I	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GCAGGACATAGTGACAATGAG	0.532													12	36					0	0	0	0	A	112031442	G	A	112031442	3	1	187	1	0	0	0	0	1	0	0	0	329	1029	36	4	397	4	ADORA3	1	112031442	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	12259846	112031442	137219179	9	33047											
MAN1A2	10905	broad.mit.edu	37	chr1	117984891	117984891	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtgcaattggctgagaaactCcttcctgcctttaacacacc	10	11	7	13	0	0	1	0	1	0	1	2	2	2	1	4	1	4	2	4	1	3	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:117984891C>G	ENST00000356554.3	+	6	1629	c.894C>G	c.(892-894)ctC>ctG	p.L298L		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	298					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CTGAGAAACTCCTTCCTGCCT	0.343													14	97					0	0	0	0	G	117984891	C	G	117984891	2	3	187	1	0	0	0	0	0	0	0	1	9280	842	30	2		2	MAN1A2	1	117984891	Silent	SNP	C	TCGA-CR-6487-01A-11D-1870-08	5953449	117984891	131265730	10	33048											
FLG2	388698	broad.mit.edu	37	chr1	152331346	152331346	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attacggtgacaacacttctCaagaggtcggtcatcttttt	10	14	8	9	2	3	2	2	1	2	1	5	2	3	2	0	3	2	0	0	3	3	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:152331346C>G	ENST00000388718.5	-	2	87	c.15G>C	c.(13-15)ttG>ttC	p.L5F	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	5	S-100-like (By similarity).						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAACACTTCTCAAGAGGTCGG	0.393													13	62					0	0	0	0	G	152331346	C	G	152331346	3	3	187	1	0	0	0	0	1	0	0	0	5968	825	29	2	7168	2	FLG2	1	152331346	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	34346455	152331346	96919275	11	33049											
NUP210L	91181	broad.mit.edu	37	chr1	154029395	154029395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcgaagaatataattttCagagtattcgtcctgttgct	11	15	8	7	2	1	2	1	0	0	2	4	3	2	2	1	0	2	4	1	0	5	7			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:154029395C>G	ENST00000368559.3	-	23	3207	c.3136G>C	c.(3136-3138)Gaa>Caa	p.E1046Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.E1046Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1046						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATATAATTTTCAGAGTATTCG	0.418													11	48					0	0	0	0	G	154029395	C	G	154029395	3	3	187	1	0	0	0	0	1	0	0	0	10832	835	29	2	2602	2	NUP210L	1	154029395	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	1698049	154029395	95221226	12	33050											
UBE2Q1	55585	broad.mit.edu	37	chr1	154525286	154525286	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtggcctgcaccgagccaGacactgcaccctgtgaggga	9	5	13	14	1	0	2	0	1	0	1	0	4	0	3	4	2	3	2	4	2	0	0			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:154525286G>C	ENST00000292211.4	-	6	819	c.740C>G	c.(739-741)tCt>tGt	p.S247C	UBE2Q1_ENST00000497453.1_5'UTR	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	247							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACCGAGCCAGACACTGCACC	0.562													9	50					0	0	0	0	C	154525286	G	C	154525286	3	2	187	1	0	0	0	0	1	0	0	0	16965	942	33	2	560	2	UBE2Q1	1	154525286	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	495891	154525286	94725335	13	33051											
RXRG	6258	broad.mit.edu	37	chr1	165398095	165398095	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcactcagagtccgtGgggcactcactggggtatct	7	9	12	13	1	3	1	2	0	1	1	4	1	4	1	2	4	1	3	2	4	1	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:165398095G>C	ENST00000359842.5	-	2	460	c.158C>G	c.(157-159)cCa>cGa	p.P53R		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	53	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CAGAGTCCGTGGGGCACTCAC	0.617													9	31					0	0	0	0	C	165398095	G	C	165398095	3	2	187	1	0	0	0	0	1	0	0	0	13850	1348	47	4	1269	4	RXRG	1	165398095	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	10872809	165398095	83852526	14	33052											
LHX4	89884	broad.mit.edu	37	chr1	180240979	180240979	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgtggcaggtttggtttCagaacagaagggccaaagag	11	10	15	5	0	1	3	1	0	0	3	1	3	1	3	1	4	1	3	1	4	3	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:180240979C>T	ENST00000263726.2	+	5	860	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	206						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GGTTTGGTTTCAGAACAGAAG	0.607													25	113					0	0	0	0	T	180240979	C	T	180240979	4	4	187	1	0	0	0	0	0	1	0	0	8827	827	29	2	634	2	LHX4	1	180240979	Nonsense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	14842884	180240979	69009642	15	33053											
KLHDC8A	55220	broad.mit.edu	37	chr1	205306592	205306592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttgacacctcccacggCgaggaggcagttcttgacga	8	8	13	12	3	1	2	0	2	1	0	2	5	2	3	2	4	0	3	2	4	0	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:205306592C>T	ENST00000367156.3	-	9	1804	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A330T|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.A196T|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.A217T|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A330T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	330										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTCCCACGGCGAGGAGGCAG	0.597													32	118					0	0	0	0	T	205306592	C	T	205306592	3	4	187	1	0	0	0	0	1	0	0	0	8414	768	27	1	68	1	KLHDC8A	1	205306592	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	25065613	205306592	43944029	16	33054											
OBSCN	84033	broad.mit.edu	37	chr1	228476582	228476582	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacctctgccactctcacCgtgaagggtaatgactgctc	9	9	10	13	1	2	2	1	2	2	0	4	3	2	3	3	2	2	2	3	2	2	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:228476582C>T	ENST00000570156.2	+	43	11693	c.11619C>T	c.(11617-11619)acC>acT	p.T3873T	OBSCN_ENST00000359599.6_Silent_p.T2291T|OBSCN_ENST00000366707.4_Silent_p.T563T|OBSCN_ENST00000422127.1_Silent_p.T3444T|OBSCN_ENST00000284548.11_Silent_p.T3444T|OBSCN_ENST00000366709.4_Silent_p.T563T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2910	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACTCTCACCGTGAAGGGTA	0.612													9	43					0	0	0	0	T	228476582	C	T	228476582	2	4	187	1	0	0	0	0	0	0	0	1	10883	639	23	1		1	OBSCN	1	228476582	Silent	SNP	C	TCGA-CR-6487-01A-11D-1870-08	23169990	228476582	20774039	17	33055											
NBAS	51594	broad.mit.edu	37	chr2	15415898	15415898	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaactggctccaatgcttCaagaggactcatgttttcat	12	12	8	9	0	3	2	3	0	0	2	4	3	4	3	1	2	2	3	1	2	4	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:15415898C>G	ENST00000281513.5	-	44	5459	c.5434G>C	c.(5434-5436)Gaa>Caa	p.E1812Q	NBAS_ENST00000441750.1_Missense_Mutation_p.E1692Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1812										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCCAATGCTTCAAGAGGACTC	0.373													11	76					0	0	0	0	G	15415898	C	G	15415898	3	3	187	1	0	0	0	0	1	0	0	0	10256	835	29	2	1717	2	NBAS	2	15415898	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08		15415898	227783475	18	33056											
THUMPD2	80745	broad.mit.edu	37	chr2	39963988	39963988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaaatggtgacattctgtCtaagaatttgtggttactgg	10	14	11	6	0	2	2	0	1	2	1	2	2	2	2	1	3	1	1	1	3	4	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:39963988C>G	ENST00000505747.1	-	10	1426	c.1399G>C	c.(1399-1401)Gac>Cac	p.D467H	THUMPD2_ENST00000260619.6_Missense_Mutation_p.D437H	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	467							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				GACATTCTGTCTAAGAATTTG	0.403													26	143					0	0	0	0	G	39963988	C	G	39963988	3	3	187	1	0	0	0	0	1	0	0	0	15977	913	32	2	116	2	THUMPD2	2	39963988	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	24548090	39963988	203235385	19	33057											
LRP1B	53353	broad.mit.edu	37	chr2	140992403	140992403	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttaggtagatgggcggCgctgtgtgtggaagcttgaa	8	11	18	4	2	0	2	0	1	0	1	0	4	0	3	0	4	1	4	0	4	4	4	rs149169898	byFrequency	TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:140992403C>T	ENST00000389484.3	-	90	14582	c.13611G>A	c.(13609-13611)gcG>gcA	p.A4537A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4537					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		agatgggcggcgctgtgtgtg	0.428										TSP Lung(27;0.18)			7	46					0	0	0	0	T	140992403	C	T	140992403	2	4	187	1	0	0	0	0	0	0	0	1	9019	755	27	1		1	LRP1B	2	140992403	Silent	SNP	C	TCGA-CR-6487-01A-11D-1870-08	101028415	140992403	102206970	20	33058											
MYO3B	140469	broad.mit.edu	37	chr2	171055792	171055792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acttccagatcccacagacaCctgggaaattatagagacca	15	7	7	12	0	0	3	0	0	0	3	2	5	2	4	4	1	0	0	4	1	3	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:171055792C>T	ENST00000334231.6	+	2	104	c.104C>T	c.(103-105)aCc>aTc	p.T35I	MYO3B_ENST00000408978.4_Missense_Mutation_p.T26I|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.T26I			Q8WXR4	MYO3B_HUMAN	myosin IIIB	26	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CCCACAGACACCTGGGAAATT	0.413													8	43					0	0	0	0	T	171055792	C	T	171055792	3	4	187	1	0	0	0	0	1	0	0	0	10147	507	18	4	83	4	MYO3B	2	171055792	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	30063389	171055792	72143581	21	33059											
TTN	7273	broad.mit.edu	37	chr2	179431566	179431566	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattacattttatccatcgAatgccacttctgtctctttt	8	20	3	10	1	2	0	0	0	2	0	5	1	3	0	2	0	2	0	2	0	4	7			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:179431566A>T	ENST00000589042.1	-	326	79517	c.79293T>A	c.(79291-79293)atT>atA	p.I26431I	TTN_ENST00000460472.2_Silent_p.I17366I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.I23863I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I24790I|TTN_ENST00000359218.5_Silent_p.I17491I|TTN_ENST00000342175.6_Silent_p.I17558I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24790	Fibronectin type-III 92.						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)			TTATCCATCGAATGCCACTTC	0.413													5	70					0	0	0	0	T	179431566	A	T	179431566	2	4	187	1	0	0	0	0	0	0	0	1	16831	242	9	5		5	TTN	2	179431566	Silent	SNP	A	TCGA-CR-6487-01A-11D-1870-08	8375774	179431566	63767807	22	33060											
TTN	7273	broad.mit.edu	37	chr2	179604387	179604387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagatcagatatttagattCaacttctggttcagtaatgg	12	15	9	5	0	4	3	3	1	1	3	4	4	4	3	0	2	1	2	0	2	4	7			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:179604387C>T	ENST00000589042.1	-	48	13797	c.13573G>A	c.(13573-13575)Gaa>Aaa	p.E4525K	TTN_ENST00000460472.2_Missense_Mutation_p.E4162K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4208K|TTN_ENST00000359218.5_Missense_Mutation_p.E4287K|TTN_ENST00000342175.6_Missense_Mutation_p.E4354K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4208	Ig-like 25.			K -> R (in Ref. 1; CAA62189).			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)			TATTTAGATTCAACTTCTGGT	0.398													29	99					0	0	0	0	T	179604387	C	T	179604387	3	4	187	1	0	0	0	0	1	0	0	0	16831	835	29	2	91216	2	TTN	2	179604387	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	172821	179604387	63594986	23	33061											
MAP2	4133	broad.mit.edu	37	chr2	210559886	210559886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattaggagtaacctatgagCaagctttggccaaagatttg	13	11	11	6	0	0	2	0	1	0	1	0	4	0	3	2	2	3	3	2	2	5	5			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:210559886C>A	ENST00000360351.4	+	7	3498	c.2992C>A	c.(2992-2994)Caa>Aaa	p.Q998K	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.Q994K|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	998					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AACCTATGAGCAAGCTTTGGC	0.418													8	60					0.000157383	0.000159113	1	0	A	210559886	C	A	210559886	3	1	187	1	0	0	0	0	1	0	0	0	9304	711	25	4	3006	4	MAP2	2	210559886	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	30955499	210559886	32639487	24	33062											
CPS1	1373	broad.mit.edu	37	chr2	211459299	211459299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccattacatcagtcttacCgaagccagcactagttgcat	12	10	6	13	1	2	0	1	0	1	0	2	1	2	0	3	0	5	3	3	0	4	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:211459299C>T	ENST00000233072.5	+	12	1428	c.1232C>T	c.(1231-1233)cCg>cTg	p.P411L	CPS1_ENST00000451903.2_5'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.P417L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	411					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TCAGTCTTACCGAAGCCAGCA	0.363													10	41					0	0	0	0	T	211459299	C	T	211459299	3	4	187	1	0	0	0	0	1	0	0	0	3853	652	23	1	1300	1	CPS1	2	211459299	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	899413	211459299	31740074	25	33063											
STK36	27148	broad.mit.edu	37	chr2	219559301	219559301	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcaaggggtgacctttgaCctccagcccatggaatggat	10	8	12	11	0	0	2	0	2	0	0	1	4	1	4	4	4	2	1	4	4	2	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:219559301C>T	ENST00000295709.3	+	21	2733	c.2454C>T	c.(2452-2454)gaC>gaT	p.D818D	STK36_ENST00000440309.1_Silent_p.D818D|STK36_ENST00000392105.3_Silent_p.D818D|STK36_ENST00000392106.2_Silent_p.D818D	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	818					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TGACCTTTGACCTCCAGCCCA	0.552													20	84					0	0	0	0	T	219559301	C	T	219559301	2	4	187	1	0	0	0	0	0	0	0	1	15392	506	18	4		4	STK36	2	219559301	Silent	SNP	C	TCGA-CR-6487-01A-11D-1870-08	8100002	219559301	23640072	26	33064											
COL6A3	1293	broad.mit.edu	37	chr2	238277502	238277502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcaccccgtcttctatgCgactccccgcagacttaaca	8	8	9	16	3	2	1	0	0	2	1	3	2	3	1	4	2	2	2	4	2	2	3	rs115765346	by1000genomes	TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:238277502C>T	ENST00000295550.4	-	10	5056	c.4604G>A	c.(4603-4605)cGc>cAc	p.R1535H	COL6A3_ENST00000347401.3_Missense_Mutation_p.R1334H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R928H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1335H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1329H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1329H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1535	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1535H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCTTCTATGCGACTCCCCGC	0.592													11	65					0	0	0	0	T	238277502	C	T	238277502	3	4	187	1	0	0	0	0	1	0	0	0	3731	768	27	1	5069	1	COL6A3	2	238277502	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	18718201	238277502	4921871	27	33065											
NISCH	11188	broad.mit.edu	37	chr3	52521429	52521429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagggcgaggaggaggatGaggaggaggaagaagaggag	16	1	22	2	1	0	3	0	1	0	2	0	11	0	10	0	8	1	0	0	8	3	0			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:52521429G>A	ENST00000345716.4	+	16	2055	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	NISCH_ENST00000479054.1_Missense_Mutation_p.E641K	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	641	Glu-rich.|Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ggaggaggatgaggaggagga	0.652													12	23					0	0	0	0	A	52521429	G	A	52521429	3	1	187	1	0	0	0	0	1	0	0	0	10502	1291	45	2	1983	2	NISCH	3	52521429	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08		52521429	145501001	28	33066											
ZBTB11	27107	broad.mit.edu	37	chr3	101370392	101370392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatgtttacggagtgttCgagcatctatgtaggcttcg	8	15	11	7	3	2	0	1	0	1	0	4	2	2	1	0	2	2	5	0	2	4	7			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:101370392C>A	ENST00000312938.4	-	11	3360	c.2780G>T	c.(2779-2781)cGa>cTa	p.R927L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	927					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACGGAGTGTTCGAGCATCTAT	0.448													28	114					4.59853e-10	4.78039e-10	1	0	A	101370392	C	A	101370392	3	1	187	1	0	0	0	0	1	0	0	0	17619	884	31	3	385	3	ZBTB11	3	101370392	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	48848963	101370392	96652038	29	33067											
C3orf30	152405	broad.mit.edu	37	chr3	118865322	118865322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagagcatccaaccctgctGatgtttctgaccttagagca	10	10	9	12	0	1	4	0	2	1	2	2	4	2	4	3	0	4	5	3	0	2	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:118865322G>A	ENST00000295622.1	+	1	326	c.286G>A	c.(286-288)Gat>Aat	p.D96N		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	96										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAACCCTGCTGATGTTTCTGA	0.473													5	31					0	0	0	0	A	118865322	G	A	118865322	3	1	187	1	0	0	0	0	1	0	0	0	2240	1290	45	2	288	2	C3orf30	3	118865322	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	17494930	118865322	79157108	30	33068											
SLC15A2	6565	broad.mit.edu	37	chr3	121649690	121649690	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatctctaccctcaggttTgttaacactttgcataaaga	13	14	5	9	0	2	1	1	0	1	1	3	1	2	1	1	1	3	3	1	1	6	6			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:121649690T>C	ENST00000489711.1	+	18	1945	c.1557T>C	c.(1555-1557)ttT>ttC	p.F519F	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Silent_p.F488F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	519					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)	CCCTCAGGTTTGTTAACACTT	0.383													10	45					0	0	0	0	C	121649690	T	C	121649690	2	2	187	1	0	0	0	0	0	0	0	1	14487	1809	63	5		5	SLC15A2	3	121649690	Silent	SNP	T	TCGA-CR-6487-01A-11D-1870-08	2784368	121649690	76372740	31	33069											
PIK3CB	5291	broad.mit.edu	37	chr3	138417818	138417818	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagtgattgtgggaaaatCtctcggcagtcttgtcgcaa	9	11	13	8	2	2	1	0	1	2	0	5	2	2	2	0	3	0	3	0	3	3	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:138417818C>G	ENST00000477593.1	-	12	1774	c.1701G>C	c.(1699-1701)gaG>gaC	p.E567D	PIK3CB_ENST00000544716.1_Missense_Mutation_p.E13D|PIK3CB_ENST00000289153.2_Missense_Mutation_p.E567D			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	567	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GTGGGAAAATCTCTCGGCAGT	0.378													21	104					0	0	0	0	G	138417818	C	G	138417818	3	3	187	1	0	0	0	0	1	0	0	0	11986	912	32	2	1557	2	PIK3CB	3	138417818	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	16768128	138417818	59604612	32	33070											
XRN1	54464	broad.mit.edu	37	chr3	142137436	142137436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggtcatcatcttcagtcTcatcttctaaattatctggg	10	16	6	9	0	8	0	4	0	5	0	9	0	8	0	0	2	0	0	0	2	4	5			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:142137436T>C	ENST00000264951.4	-	12	1373	c.1256A>G	c.(1255-1257)gAg>gGg	p.E419G	XRN1_ENST00000463916.1_Missense_Mutation_p.E419G|XRN1_ENST00000392981.2_Missense_Mutation_p.E419G|XRN1_ENST00000544157.1_Missense_Mutation_p.E209G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	419					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATCTTCAGTCTCATCTTCTAA	0.333													7	32					0	0	0	0	C	142137436	T	C	142137436	3	2	187	1	0	0	0	0	1	0	0	0	17555	1551	54	5	3988	5	XRN1	3	142137436	Missense_Mutation	SNP	T	TCGA-CR-6487-01A-11D-1870-08	3719618	142137436	55884994	33	33071											
SI	6476	broad.mit.edu	37	chr3	164750459	164750459	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgatatgatgaatgtgTgcacacaatatctaatgtgt	12	15	8	6	0	1	3	0	3	1	0	2	3	2	3	1	0	1	1	1	0	5	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:164750459T>C	ENST00000264382.3	-	24	2649	c.2587A>G	c.(2587-2589)Aca>Gca	p.T863A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	863	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GATGAATGTGTGCACACAATA	0.333										HNSCC(35;0.089)			6	64					0	0	0	0	C	164750459	T	C	164750459	3	2	187	1	0	0	0	0	1	0	0	0	14385	1696	59	5	2996	5	SI	3	164750459	Missense_Mutation	SNP	T	TCGA-CR-6487-01A-11D-1870-08	22613023	164750459	33271971	34	33072											
SERPINI1	5274	broad.mit.edu	37	chr3	167543055	167543055	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaattctattcatgggaCgagtcatgcatcctgaaaca	13	11	8	9	1	3	1	2	1	1	0	4	3	4	2	1	1	3	2	1	1	4	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:167543055C>T	ENST00000295777.5	+	9	1608	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Nonsense_Mutation_p.R393*	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	393					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ATTCATGGGACGAGTCATGCA	0.318													44	516					0	0	0	0	T	167543055	C	T	167543055	4	4	187	1	0	0	0	0	0	1	0	0	14205	528	19	1	1207	1	SERPINI1	3	167543055	Nonsense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	2792596	167543055	30479375	35	33073											
TNIK	23043	broad.mit.edu	37	chr3	170800121	170800121	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatcagattatagacttTgccttgcccacttcggtcca	8	14	8	11	1	1	3	1	1	0	2	3	3	2	3	3	1	2	1	3	1	2	6			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:170800121T>C	ENST00000436636.2	-	27	3576	c.3232A>G	c.(3232-3234)Aaa>Gaa	p.K1078E	TNIK_ENST00000460047.1_Missense_Mutation_p.K1015E|TNIK_ENST00000538048.1_Missense_Mutation_p.K1030E|TNIK_ENST00000341852.6_Missense_Mutation_p.K994E|TNIK_ENST00000284483.8_Missense_Mutation_p.K1070E|TNIK_ENST00000488470.1_Missense_Mutation_p.K1023E|TNIK_ENST00000369326.5_Missense_Mutation_p.K1056E|TNIK_ENST00000475336.1_Missense_Mutation_p.K986E|TNIK_ENST00000357327.5_Missense_Mutation_p.K1049E|TNIK_ENST00000470834.1_Missense_Mutation_p.K1041E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1078	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTATAGACTTTGCCTTGCCCA	0.438													5	195					0	0	0	0	C	170800121	T	C	170800121	3	2	187	1	0	0	0	0	1	0	0	0	16407	1821	63	5	878	5	TNIK	3	170800121	Missense_Mutation	SNP	T	TCGA-CR-6487-01A-11D-1870-08	3257066	170800121	27222309	36	33074											
TBL1XR1	79718	broad.mit.edu	37	chr3	176769363	176769363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgcagatccttgttggCtggctgcagctgcggcagct	4	14	13	10	1	0	1	0	0	0	1	1	1	1	1	1	3	5	8	1	3	0	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:176769363C>T	ENST00000430069.1	-	5	615	c.356G>A	c.(355-357)aGc>aAc	p.S119N	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.S119N			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	119					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TCCTTGTTGGCTGGCTGCAGC	0.453													13	290					0	0	0	0	T	176769363	C	T	176769363	3	4	187	1	0	0	0	0	1	0	0	0	15734	797	28	4	1236	4	TBL1XR1	3	176769363	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	5969242	176769363	21253067	37	33075											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			73	123					0	0	0	0	A	178936091	G	A	178936091	3	1	187	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	2166728	178936091	19086339	38	33076											
MFN1	55669	broad.mit.edu	37	chr3	179069808	179069808	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcggagacacatgaaggTggcattttttggcaggtaat	11	12	12	6	1	1	2	0	1	1	1	2	3	1	2	0	5	0	3	0	5	2	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:179069808T>C	ENST00000471841.1	+	3	359	c.233T>C	c.(232-234)gTg>gCg	p.V78A	MFN1_ENST00000280653.7_Missense_Mutation_p.V78A|MFN1_ENST00000263969.5_Missense_Mutation_p.V78A	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	78					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CACATGAAGGTGGCATTTTTT	0.378													67	368					0	0	0	0	C	179069808	T	C	179069808	3	2	187	1	0	0	0	0	1	0	0	0	9592	1696	59	5	239	5	MFN1	3	179069808	Missense_Mutation	SNP	T	TCGA-CR-6487-01A-11D-1870-08	133717	179069808	18952622	39	33077											
MAP3K13	9175	broad.mit.edu	37	chr3	185190964	185190964	+	Frame_Shift_Del	DEL	A	A	-																															cagccagcccaggaaaattcAccccatcccacttacctgca																										TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:185190964delA	ENST00000265026.3	+	11	2179	c.1845delA	c.(1843-1845)tcfs	p.S615fs	MAP3K13_ENST00000443863.1_Frame_Shift_Del_p.S471fs|MAP3K13_ENST00000535426.1_Frame_Shift_Del_p.S471fs|MAP3K13_ENST00000424227.1_Frame_Shift_Del_p.S615fs|MAP3K13_ENST00000446828.1_Frame_Shift_Del_p.S408fs	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	615					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGGAAAATTCACCCCATCCCA	0.532													7	1226	---	---	---	---					-	185190964	A	-	185190964	7	5	187	1	0	1	0	1	0	0	0	0	9316	146	6	0	1883	0	MAP3K13	3	185190964	Frame_Shift_Del	DEL	A	TCGA-CR-6487-01A-11D-1870-08	6121156	185190964	12831466	40	33078											
ATP13A4	84239	broad.mit.edu	37	chr3	193166024	193166024	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacagtccttatccgggctGagatgagctcttccaagaca	10	11	9	11	1	1	3	0	2	1	2	4	4	4	3	3	1	2	2	3	1	3	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:193166024G>C	ENST00000342695.4	-	18	2445	c.2123C>G	c.(2122-2124)tCa>tGa	p.S708*	ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.S689*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	708					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TATCCGGGCTGAGATGAGCTC	0.408													12	176					0	0	0	0	C	193166024	G	C	193166024	4	2	187	1	0	0	0	0	0	1	0	0	1130	1294	45	2	1519	2	ATP13A4	3	193166024	Nonsense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	7975060	193166024	4856406	41	33079											
BDH1	622	broad.mit.edu	37	chr3	197241274	197241274	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagatgccggcattgttaacGaggccccacatgcctggaca	10	7	12	12	2	0	1	0	0	0	1	0	4	0	2	4	3	3	2	4	3	1	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:197241274G>A	ENST00000392379.1	-	7	824	c.423C>T	c.(421-423)ctC>ctT	p.L141L	BDH1_ENST00000441275.1_Silent_p.L54L|BDH1_ENST00000358186.2_Silent_p.L141L|BDH1_ENST00000392378.2_Silent_p.L141L	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	141					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CATTGTTAACGAGGCCCCACA	0.587													13	211					0	0	0	0	A	197241274	G	A	197241274	2	1	187	1	0	0	0	0	0	0	0	1	1394	1045	37	1		1	BDH1	3	197241274	Silent	SNP	G	TCGA-CR-6487-01A-11D-1870-08	4075250	197241274	781156	42	33080											
FAM193A	8603	broad.mit.edu	37	chr4	2661312	2661312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataagaaagcagttactggcGagaacaacttcacagacacc	17	6	8	10	1	1	3	1	0	0	3	1	4	1	3	1	1	4	2	1	1	5	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr4:2661312G>A	ENST00000324666.5	+	7	895	c.544G>A	c.(544-546)Gag>Aag	p.E182K	FAM193A_ENST00000502458.1_Missense_Mutation_p.E206K|FAM193A_ENST00000545951.1_Missense_Mutation_p.E182K|FAM193A_ENST00000505311.1_Missense_Mutation_p.E182K|FAM193A_ENST00000382839.3_Missense_Mutation_p.E182K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	182										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGTTACTGGCGAGAACAACTT	0.453													9	39					0	0	0	0	A	2661312	G	A	2661312	3	1	187	1	0	0	0	0	1	0	0	0	5567	1059	37	1	562	1	FAM193A	4	2661312	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08		2661312	188492964	43	33081											
KCTD8	386617	broad.mit.edu	37	chr4	44449818	44449818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagacctccttggccagcgcGatgcgcccgcacaccatgat	9	6	10	16	4	0	2	0	1	0	1	1	3	1	2	5	1	2	1	5	1	1	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr4:44449818G>A	ENST00000360029.3	-	1	1006	c.723C>T	c.(721-723)atC>atT	p.I241I		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	241						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.I241I(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGGCCAGCGCGATGCGCCCGC	0.667										HNSCC(17;0.042)			4	12					0	0	0	0	A	44449818	G	A	44449818	2	1	187	1	0	0	0	0	0	0	0	1	8168	1048	37	1		1	KCTD8	4	44449818	Silent	SNP	G	TCGA-CR-6487-01A-11D-1870-08	41788506	44449818	146704458	44	33082											
SMAD1	4086	broad.mit.edu	37	chr4	146467854	146467854	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataacattttctttcctctaGatgttcaggcggttgcttat	8	18	7	8	1	3	1	1	0	2	1	4	1	4	1	1	2	2	3	1	2	3	8			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr4:146467854G>A	ENST00000515385.1	+	5	1317		c.e5-1		SMAD1_ENST00000302085.4_Splice_Site|SMAD1_ENST00000394092.2_Splice_Site			Q15797	SMAD1_HUMAN	SMAD family member 1						BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	p.?(2)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CTTTCCTCTAGATGTTCAGGC	0.448													40	103					0	0	0	0	A	146467854	G	A	146467854	5	1	187	1	0	0	0	0	0	0	1	0	14845	956	33	2	789	2	SMAD1	4	146467854	Splice_Site	SNP	G	TCGA-CR-6487-01A-11D-1870-08	102018036	146467854	44686422	45	33083											
POC5	134359	broad.mit.edu	37	chr5	74981280	74981280	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaacaccaggaccatactCttcctttttattatttgtgg	9	17	6	9	0	1	1	0	1	1	0	2	2	2	2	3	2	2	0	3	2	4	8			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:74981280C>G	ENST00000428202.2	-	10	1348	c.1159G>C	c.(1159-1161)Gag>Cag	p.E387Q	POC5_ENST00000446329.2_Missense_Mutation_p.E362Q|POC5_ENST00000380475.2_Missense_Mutation_p.E270Q|POC5_ENST00000514838.2_Missense_Mutation_p.E359Q|POC5_ENST00000510798.1_Missense_Mutation_p.E270Q	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	387					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGACCATACTCTTCCTTTTTA	0.398													17	139					0	0	0	0	G	74981280	C	G	74981280	3	3	187	1	0	0	0	0	1	0	0	0	12249	922	32	2	580	2	POC5	5	74981280	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08		74981280	105933980	46	33084											
CTNNA1	1495	broad.mit.edu	37	chr5	138145823	138145823	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagctcgagctttgctctCtgctgttacccggttgctga	4	13	12	12	2	1	1	0	1	1	0	3	2	1	1	1	2	6	8	1	2	1	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:138145823C>G	ENST00000302763.7	+	4	488	c.398C>G	c.(397-399)tCt>tGt	p.S133C	CTNNA1_ENST00000355078.5_Missense_Mutation_p.S30C|CTNNA1_ENST00000518825.1_Missense_Mutation_p.S133C	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	133	Interaction with JUP and CTNNB1.|Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTTTGCTCTCTGCTGTTACC	0.478													28	62					0	0	0	0	G	138145823	C	G	138145823	3	3	187	1	0	0	0	0	1	0	0	0	4044	913	32	2	408	2	CTNNA1	5	138145823	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	63164543	138145823	42769437	47	33085											
ANKHD1	54882	broad.mit.edu	37	chr5	139918552	139918552	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccataataccctctcatcctCagcttgctgatgttccagga	9	12	6	14	0	2	1	2	1	1	0	5	2	4	2	4	1	3	3	4	1	2	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:139918552C>T	ENST00000297183.6	+	33	7577	c.7453C>T	c.(7453-7455)Cag>Tag	p.Q2485*	ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.Q809*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.Q2485*|ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.Q2485*	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCATCCTCAGCTTGCTGA	0.373													20	75					0	0	0	0	T	139918552	C	T	139918552	4	4	187	1	0	0	0	0	0	1	0	0	628	827	29	2	7689	2	ANKHD1	5	139918552	Nonsense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	1772729	139918552	40996708	48	33086											
PCDHA1	56147	broad.mit.edu	37	chr5	140165875	140165875	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggtgtagtccttttgcAatggtgttttctaggagagg	9	14	14	4	0	1	1	0	0	1	1	2	3	2	1	1	4	1	3	1	4	4	6			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:140165875A>G	ENST00000378133.3	+	1	0		c.e1-1		PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031410.1	NP_113598.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTTTTGCAATGGTGTTTT	0.483													29	150					0	0	0	0	G	140165875	A	G	140165875	5	3	187	1	0	0	0	0	0	0	1	0	11590	145	5	5	2	5	PCDHA1	5	140165875	Splice_Site	SNP	A	TCGA-CR-6487-01A-11D-1870-08	247323	140165875	40749385	49	33087											
PCDHGA1	56114	broad.mit.edu	37	chr5	140710925	140710925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaccagtccgttcagggaCcctcagaatttacattcagg	11	10	9	11	1	3	2	3	1	0	1	4	3	4	3	3	2	2	1	3	2	3	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:140710925C>T	ENST00000517417.1	+	1	674	c.674C>T	c.(673-675)aCc>aTc	p.T225I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T225I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTCAGGGACCCTCAGAATT	0.507													16	49					0	0	0	0	T	140710925	C	T	140710925	3	4	187	1	0	0	0	0	1	0	0	0	11621	507	18	4	676	4	PCDHGA1	5	140710925	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	545050	140710925	40204335	50	33088											
PCDHGA9	56107	broad.mit.edu	37	chr5	140782613	140782613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccagggccagtcagattCgctactcagtgcctgaagag	10	7	13	11	1	2	3	2	1	0	2	3	3	2	3	3	2	2	1	3	2	2	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:140782613C>T	ENST00000573521.1	+	1	94	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTCAGATTCGCTACTCAGT	0.602													14	69					0	0	0	0	T	140782613	C	T	140782613	3	4	187	1	0	0	0	0	1	0	0	0	11632	884	31	1	96	1	PCDHGA9	5	140782613	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	71688	140782613	40132647	51	33089											
DIAPH1	1729	broad.mit.edu	37	chr5	140903714	140903714	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgcttacttaccttgAcggggccctctcttccgtcg	4	13	9	15	3	1	1	0	1	1	0	4	1	2	1	4	2	3	1	4	2	2	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:140903714A>G	ENST00000253811.6	-	27	3800	c.3660T>C	c.(3658-3660)cgT>cgC	p.R1220R	DIAPH1_ENST00000389054.3_Silent_p.R1216R|DIAPH1_ENST00000398557.4_Silent_p.R1219R|DIAPH1_ENST00000398562.2_Silent_p.R1195R|DIAPH1_ENST00000398566.3_Silent_p.R1211R|DIAPH1_ENST00000389057.5_Silent_p.R1210R|DIAPH1_ENST00000520569.1_Silent_p.R1162R|DIAPH1_ENST00000518047.1_Silent_p.R1207R			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1219	DAD.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTACCTTGACGGGGCCCTC	0.532													14	65					0	0	0	0	G	140903714	A	G	140903714	2	3	187	1	0	0	0	0	0	0	0	1	4555	262	10	5		5	DIAPH1	5	140903714	Silent	SNP	A	TCGA-CR-6487-01A-11D-1870-08	121101	140903714	40011546	52	33090											
PCDH1	5097	broad.mit.edu	37	chr5	141248480	141248480	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccagcgggatggggaagAgtgagccgatgttggtgttc	9	8	18	6	2	0	2	0	1	0	1	1	5	0	4	2	4	3	2	2	4	2	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:141248480A>C	ENST00000287008.3	-	2	704	c.557T>G	c.(556-558)cTc>cGc	p.L186R	PCDH1_ENST00000394536.3_Missense_Mutation_p.L186R|PCDH1_ENST00000536585.1_Missense_Mutation_p.L164R|PCDH1_ENST00000456271.1_Missense_Mutation_p.L186R|PCDH1_ENST00000503492.1_Missense_Mutation_p.L186R	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	186	Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GATGGGGAAGAGTGAGCCGAT	0.572													46	204					0	0	0	0	C	141248480	A	C	141248480	3	2	187	1	0	0	0	0	1	0	0	0	11577	304	11	5	3256	5	PCDH1	5	141248480	Missense_Mutation	SNP	A	TCGA-CR-6487-01A-11D-1870-08	344766	141248480	39666780	53	33091											
GRIA1	2890	broad.mit.edu	37	chr5	153149822	153149822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacagaggaggggatgattcGagtgaggaaatccaaaggca	15	5	15	6	1	0	3	0	2	0	1	2	7	1	6	1	5	0	1	1	5	2	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:153149822G>A	ENST00000285900.5	+	13	2460	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q	GRIA1_ENST00000340592.5_Missense_Mutation_p.R706Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.R626Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.R637Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.R716Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.R716Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	706					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGGATGATTCGAGTGAGGAAA	0.483													14	47					0	0	0	0	A	153149822	G	A	153149822	3	1	187	1	0	0	0	0	1	0	0	0	6817	1058	37	1	2167	1	GRIA1	5	153149822	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	11901342	153149822	27765438	54	33092											
RPP40	10799	broad.mit.edu	37	chr6	4998960	4998960	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcctcatacctgttttatgCcaagccaaaagaaaatcaaa	16	11	4	10	0	2	1	2	0	0	1	3	1	3	1	4	0	3	1	4	0	8	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:4998960C>T	ENST00000380051.2	-	5	593	c.549G>A	c.(547-549)tgG>tgA	p.W183*	RPP40_ENST00000464646.1_Nonsense_Mutation_p.W123*|RPP40_ENST00000319533.5_Nonsense_Mutation_p.W160*	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	183					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CTGTTTTATGCCAAGCCAAAA	0.299													4	21					0	0	0	0	T	4998960	C	T	4998960	4	4	187	1	0	0	0	0	0	1	0	0	13699	740	26	4	558	4	RPP40	6	4998960	Nonsense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08		4998960	166116107	55	33093											
FARS2	10667	broad.mit.edu	37	chr6	5369231	5369231	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaggaagaagggggacaActattacctgaatcggactc	14	6	12	9	1	0	2	0	1	0	1	2	5	0	5	1	4	3	1	1	4	6	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:5369231A>G	ENST00000324331.6	+	2	764	c.428A>G	c.(427-429)aAc>aGc	p.N143S	FARS2_ENST00000274680.4_Missense_Mutation_p.N143S			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	143					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AAGGGGGACAACTATTACCTG	0.567													10	74					0	0	0	0	G	5369231	A	G	5369231	3	3	187	1	0	0	0	0	1	0	0	0	5723	43	2	5	430	5	FARS2	6	5369231	Missense_Mutation	SNP	A	TCGA-CR-6487-01A-11D-1870-08	370271	5369231	165745836	56	33094											
RREB1	6239	broad.mit.edu	37	chr6	7229769	7229769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctgaagatggcagcctcGgctccccctcagatcagtct	8	10	9	14	1	4	3	2	1	2	2	6	3	5	3	3	2	1	2	3	2	1	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:7229769G>A	ENST00000379938.2	+	10	1974	c.1437G>A	c.(1435-1437)tcG>tcA	p.S479S	RREB1_ENST00000334984.6_Silent_p.S479S|RREB1_ENST00000349384.6_Silent_p.S479S|RREB1_ENST00000379933.3_Silent_p.S479S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	479					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGGCAGCCTCGGCTCCCCCTC	0.607													26	208					0	0	0	0	A	7229769	G	A	7229769	2	1	187	1	0	0	0	0	0	0	0	1	13764	1103	39	1		1	RREB1	6	7229769	Silent	SNP	G	TCGA-CR-6487-01A-11D-1870-08	1860538	7229769	163885298	57	33095											
MAK	4117	broad.mit.edu	37	chr6	10770373	10770373	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcattgagaggtgctaagTggatcctctggccagctgac	8	11	13	9	0	1	2	0	2	1	1	2	4	2	3	2	3	3	3	2	3	1	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:10770373T>C	ENST00000313243.2	-	13	2070	c.1688A>G	c.(1687-1689)cAc>cGc	p.H563R	MAK_ENST00000538030.1_3'UTR|MAK_ENST00000474039.1_Missense_Mutation_p.H563R|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.H563R|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	563					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGGTGCTAAGTGGATCCTCTG	0.398													17	90					0	0	0	0	C	10770373	T	C	10770373	3	2	187	1	0	0	0	0	1	0	0	0	9266	1696	59	5	191	5	MAK	6	10770373	Missense_Mutation	SNP	T	TCGA-CR-6487-01A-11D-1870-08	3540604	10770373	160344694	58	33096											
MLN	4295	broad.mit.edu	37	chr6	33768873	33768873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggggacgaaggcttccGtctgggaggccagcatggca	9	6	17	9	2	1	1	0	0	1	1	2	4	2	3	2	6	1	3	2	6	1	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:33768873G>A	ENST00000430124.2	-	2	133	c.68C>T	c.(67-69)aCg>aTg	p.T23M	MLN_ENST00000266003.5_Missense_Mutation_p.T23M|MLN_ENST00000507738.1_Missense_Mutation_p.T23M	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	23					cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						GAAGGCTTCCGTCTGGGAGGC	0.577													18	102					0	0	0	0	A	33768873	G	A	33768873	3	1	187	1	0	0	0	0	1	0	0	0	9700	1145	40	1	295	1	MLN	6	33768873	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	22998500	33768873	137346194	59	33097											
C6orf89	221477	broad.mit.edu	37	chr6	36882411	36882411	+	Frame_Shift_Del	DEL	T	T	-																															cagaaggcttctctgaagggTttttcgccaagtggtggcgc																										TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:36882411delT	ENST00000480824.2	+	6	931	c.637delT	c.(637-639)ttfs	p.F214fs	C6orf89_ENST00000359359.2_Frame_Shift_Del_p.F108fs|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.F221fs|C6orf89_ENST00000510325.2_Frame_Shift_Del_p.F108fs|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.F214fs			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	214						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CTCTGAAGGGTTTTTCGCCAA	0.542													7	326	---	---	---	---					-	36882411	T	-	36882411	7	5	187	1	0	1	0	1	0	0	0	0	2395	1725	60	0	676	0	C6orf89	6	36882411	Frame_Shift_Del	DEL	T	TCGA-CR-6487-01A-11D-1870-08	3113538	36882411	134232656	60	33098											
KIF6	221458	broad.mit.edu	37	chr6	39513399	39513399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaactttacgcatatccGcgccaacctctaatctactg	11	11	6	13	3	2	1	0	1	2	0	3	2	3	1	3	0	4	1	3	0	6	5			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:39513399G>A	ENST00000287152.7	-	11	1341	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	KIF6_ENST00000373213.4_Missense_Mutation_p.A255V|KIF6_ENST00000538893.1_Missense_Mutation_p.A416V|KIF6_ENST00000373215.3_Missense_Mutation_p.A416V|KIF6_ENST00000373216.3_Missense_Mutation_p.A416V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	416					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACGCATATCCGCGCCAACCTC	0.363													7	83					0	0	0	0	A	39513399	G	A	39513399	3	1	187	1	0	0	0	0	1	0	0	0	8359	1087	38	1	1249	1	KIF6	6	39513399	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	2630988	39513399	131601668	61	33099											
LRFN2	57497	broad.mit.edu	37	chr6	40360590	40360590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catggccagcacacacaagtCgtagccagtccctgacacca	12	5	8	16	1	0	1	0	1	0	0	2	1	1	1	4	1	2	2	4	1	2	1	rs55706368		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:40360590C>T	ENST00000338305.6	-	3	2004	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	488	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACACACAAGTCGTAGCCAGTC	0.597													4	27					0	0	0	0	T	40360590	C	T	40360590	3	4	187	1	0	0	0	0	1	0	0	0	9002	884	31	1	911	1	LRFN2	6	40360590	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	847191	40360590	130754477	62	33100											
MDN1	23195	broad.mit.edu	37	chr6	90426527	90426528	+	Splice_Site	DEL	CT	CT	-																															tcttcaacaagtttggcaaaCtctgaaatgtcacagggaag																										TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:90426527_90426528delCT	ENST00000369393.3	-	44	6699_6700	c.6583_splice	c.e44-1	p.E2195_splice	MDN1_ENST00000428876.1_Splice_Site_p.E2195_splice			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2195					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTTGGCAAACTCTGAAATGTC	0.421													13	59	---	---	---	---					-	90426528	CT	-	90426527	8	5	187	1	0	1	0	1	0	0	1	0	9484	579	20	0	10441	0	MDN1	6	90426527	Splice_Site	DEL	CT	TCGA-CR-6487-01A-11D-1870-08	50065937	90426527	80688540	63	33101											
CCDC129	223075	broad.mit.edu	37	chr7	31692184	31692184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactattcaaatctgcatcAatataactggatagaagaaa	19	10	5	7	0	3	2	2	0	1	2	3	3	3	3	0	1	2	1	0	1	8	5			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr7:31692184A>G	ENST00000319386.3	+	14	3425	c.2432A>G	c.(2431-2433)cAa>cGa	p.Q811R	CCDC129_ENST00000407970.3_Missense_Mutation_p.Q959R|CCDC129_ENST00000409210.1_Missense_Mutation_p.Q867R|CCDC129_ENST00000451887.2_Missense_Mutation_p.Q985R			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	959	Cys-rich.									cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AATCTGCATCAATATAACTGG	0.468													3	16					0	0	0	0	G	31692184	A	G	31692184	3	3	187	1	0	0	0	0	1	0	0	0	2789	130	5	5	2926	5	CCDC129	7	31692184	Missense_Mutation	SNP	A	TCGA-CR-6487-01A-11D-1870-08		31692184	127446479	64	33102											
NRF1	4899	broad.mit.edu	37	chr7	129367082	129367082	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgttcctgtgcccgcagcGaagctgccgcccatgctgtc	4	9	11	17	3	0	0	0	0	0	0	2	1	1	0	5	0	5	4	5	0	1	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr7:129367082G>A	ENST00000393232.1	+	10	1342	c.1223_splice	c.e10-1	p.E409_splice	NRF1_ENST00000539636.1_Splice_Site_p.E248_splice|NRF1_ENST00000353868.4_Splice_Site_p.E343_splice|NRF1_ENST00000311967.2_Splice_Site_p.E409_splice|NRF1_ENST00000223190.4_Splice_Site_p.E409_splice|NRF1_ENST00000393231.3_Splice_Site_p.E409_splice|NRF1_ENST00000393230.2_Splice_Site_p.E409_splice	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	409	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.E409K(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						TGCCCGCAGCGAAGCTGCCGC	0.577													5	38					0	0	0	0	A	129367082	G	A	129367082	5	1	187	1	0	0	0	0	0	0	1	0	10717	1072	37	1	1259	1	NRF1	7	129367082	Splice_Site	SNP	G	TCGA-CR-6487-01A-11D-1870-08	97674898	129367082	29771581	65	33103											
POLR3D	661	broad.mit.edu	37	chr8	22106636	22106636	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccaggaagactccaggcctCccgaaggatgtatctgtggc	9	7	13	12	1	1	1	0	0	1	1	3	4	3	3	4	4	0	1	4	4	3	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:22106636C>T	ENST00000397802.4	+	6	950	c.735C>T	c.(733-735)ctC>ctT	p.L245L	POLR3D_ENST00000306433.4_Silent_p.L245L			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	245					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTCCAGGCCTCCCGAAGGATG	0.592													4	39					0	0	0	0	T	22106636	C	T	22106636	2	4	187	1	0	0	0	0	0	0	0	1	12303	842	30	2		2	POLR3D	8	22106636	Silent	SNP	C	TCGA-CR-6487-01A-11D-1870-08		22106636	124257386	66	33104											
ADAM32	203102	broad.mit.edu	37	chr8	39022696	39022696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttaacctaaggcctcatGatattgcatatctactaatg	13	14	5	9	0	3	1	1	1	2	0	3	1	3	1	2	1	3	1	2	1	6	7			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:39022696G>A	ENST00000379907.4	+	9	941	c.814G>A	c.(814-816)Gat>Aat	p.D272N	ADAM32_ENST00000437682.2_Missense_Mutation_p.D279N|ADAM32_ENST00000519315.1_Missense_Mutation_p.D272N	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	272	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AAGGCCTCATGATATTGCATA	0.289													5	27					0	0	0	0	A	39022696	G	A	39022696	3	1	187	1	0	0	0	0	1	0	0	0	249	1290	45	2	848	2	ADAM32	8	39022696	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	16916060	39022696	107341326	67	33105											
RP1	6101	broad.mit.edu	37	chr8	55542592	55542592	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgggtaatgtggattcaaaTacacaagacctcagcggtca	13	9	11	8	1	3	1	3	0	0	1	3	2	3	2	1	3	2	1	1	3	4	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:55542592T>C	ENST00000220676.1	+	4	6298	c.6150T>C	c.(6148-6150)aaT>aaC	p.N2050N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2050					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGATTCAAATACACAAGACC	0.338													6	46					0	0	0	0	C	55542592	T	C	55542592	2	2	187	1	0	0	0	0	0	0	0	1	13617	1403	49	5		5	RP1	8	55542592	Silent	SNP	T	TCGA-CR-6487-01A-11D-1870-08	16519896	55542592	90821430	68	33106											
MMP16	4325	broad.mit.edu	37	chr8	89180146	89180146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccacacatcaaaggcaCggcgaatagctttacgagtc	12	8	9	12	3	2	0	1	0	1	0	3	2	2	0	1	2	3	2	1	2	4	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:89180146C>T	ENST00000286614.6	-	4	742	c.461G>A	c.(460-462)cGt>cAt	p.R154H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	154					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATCAAAGGCACGGCGAATAGC	0.368													7	46					0	0	0	0	T	89180146	C	T	89180146	3	4	187	1	0	0	0	0	1	0	0	0	9724	536	19	1	1546	1	MMP16	8	89180146	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	33637554	89180146	57183876	69	33107											
PKHD1L1	93035	broad.mit.edu	37	chr8	110456922	110456922	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctacccctgtgtcgtagaAgaaagtagtgaggattcaat	13	10	11	7	1	1	3	1	1	0	2	2	4	1	4	2	1	2	3	2	1	6	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:110456922A>T	ENST00000378402.5	+	38	4928	c.4824A>T	c.(4822-4824)gaA>gaT	p.E1608D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1608	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGTCGTAGAAGAAAGTAGTG	0.358										HNSCC(38;0.096)			81	210					0	0	0	0	T	110456922	A	T	110456922	3	4	187	1	0	0	0	0	1	0	0	0	12044	69	3	5	4974	5	PKHD1L1	8	110456922	Missense_Mutation	SNP	A	TCGA-CR-6487-01A-11D-1870-08	21276776	110456922	35907100	70	33108											
CSMD3	114788	broad.mit.edu	37	chr8	113960032	113960032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atattacctaaaatctgatcCgattctcttcccattttctg	10	17	3	11	1	3	1	0	1	3	0	6	2	5	1	3	0	1	0	3	0	4	7			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:113960032C>T	ENST00000297405.5	-	9	1739	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G395R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G499R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G459R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	499	Sushi 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATCTGATCCGATTCTCTTC	0.294										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	60					0	0	0	0	T	113960032	C	T	113960032	3	4	187	1	0	0	0	0	1	0	0	0	3978	661	23	1	9880	1	CSMD3	8	113960032	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	3503110	113960032	32403990	71	33109											
DENND3	22898	broad.mit.edu	37	chr8	142178285	142178285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtacctccgagggctcGtttatctgatgcagggacag	8	12	12	9	2	1	1	0	1	1	0	3	3	2	2	2	2	2	4	2	2	2	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:142178285G>A	ENST00000519811.1	+	13	2006	c.1936G>A	c.(1936-1938)Gtt>Att	p.V646I	DENND3_ENST00000424248.1_Missense_Mutation_p.V514I|DENND3_ENST00000262585.2_Missense_Mutation_p.V566I			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	566										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGAGGGCTCGTTTATCTGAT	0.522													14	152					0	0	0	0	A	142178285	G	A	142178285	3	1	187	1	0	0	0	0	1	0	0	0	4469	1145	40	1	1742	1	DENND3	8	142178285	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	28218253	142178285	4185737	72	33110											
C9orf135	138255	broad.mit.edu	37	chr9	72521027	72521027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaactctatcccttgaCtagtgggcctattgtgccaa	11	11	8	11	0	1	2	0	1	1	1	2	2	2	2	3	1	2	0	3	1	5	5			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:72521027C>T	ENST00000377197.3	+	6	752	c.665C>T	c.(664-666)aCt>aTt	p.T222I	C9orf135_ENST00000527647.1_3'UTR|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	222						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TATCCCTTGACTAGTGGGCCT	0.338													12	64					0	0	0	0	T	72521027	C	T	72521027	3	4	187	1	0	0	0	0	1	0	0	0	2483	565	20	4	687	4	C9orf135	9	72521027	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08		72521027	68692404	73	33111											
SLC44A1	23446	broad.mit.edu	37	chr9	108151336	108151336	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcgggagcaagttctgcttGaacctagccgacggttatgg	8	11	13	9	3	1	1	0	1	1	0	2	3	1	2	2	3	4	4	2	3	4	5			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:108151336G>C	ENST00000374720.3	+	16	2220	c.1973G>C	c.(1972-1974)tGa>tCa	p.*658S	SLC44A1_ENST00000374723.1_Intron|SLC44A1_ENST00000343170.7_Intron|SLC44A1_ENST00000374724.1_Intron	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	0						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGTTCTGCTTGAACCTAGCCG	0.343													33	149					0	0	0	0	C	108151336	G	C	108151336	4	2	187	1	0	0	0	0	0	0	0	0	14723	1285	45	2	2035	2	SLC44A1	9	108151336	Nonstop_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	35630309	108151336	33062095	74	33112											
RGS3	5998	broad.mit.edu	37	chr9	116353615	116353615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcttctctccgcagatGagcggggctgacaccgttgg	5	11	13	12	3	3	3	0	2	3	1	5	3	4	3	2	3	1	3	2	3	0	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:116353615G>T	ENST00000374140.2	+	22	3227	c.3018G>T	c.(3016-3018)atG>atT	p.M1006I	RGS3_ENST00000343817.5_Missense_Mutation_p.M725I|RGS3_ENST00000462143.1_Missense_Mutation_p.M327I|RGS3_ENST00000374134.3_Missense_Mutation_p.M327I|RGS3_ENST00000394646.3_Missense_Mutation_p.M399I|RGS3_ENST00000350696.5_Missense_Mutation_p.M1006I|RGS3_ENST00000342620.5_Intron	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1006					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCCGCAGATGAGCGGGGCTG	0.572													8	52					3.09899e-07	3.18555e-07	1	0	T	116353615	G	T	116353615	3	4	187	1	0	0	0	0	1	0	0	0	13389	1290	45	2	3353	2	RGS3	9	116353615	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	8202279	116353615	24859816	75	33113											
OR1J4	26219	broad.mit.edu	37	chr9	125282179	125282179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtctctgtattatggcAcaattattggactgtatttt	8	19	9	5	0	1	0	0	0	1	0	2	1	1	1	0	3	0	3	0	3	5	7			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:125282179A>G	ENST00000340750.1	+	1	760	c.760A>G	c.(760-762)Aca>Gca	p.T254A		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GTATTATGGCACAATTATTGG	0.493													16	70					0	0	0	0	G	125282179	A	G	125282179	3	3	187	1	0	0	0	0	1	0	0	0	11032	159	6	5	762	5	OR1J4	9	125282179	Missense_Mutation	SNP	A	TCGA-CR-6487-01A-11D-1870-08	8928564	125282179	15931252	76	33114											
EHMT1	79813	broad.mit.edu	37	chr9	140657192	140657192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgcctctctgcagctgcCggatggaaacaccgaagagt	11	7	12	11	2	1	1	0	0	1	1	2	4	1	3	3	2	5	2	3	2	3	0			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:140657192C>T	ENST00000460843.1	+	10	1594	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R492W|EHMT1_ENST00000462484.1_Missense_Mutation_p.R523W	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	523					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTGCAGCTGCCGGATGGAAAC	0.537													8	36					0	0	0	0	T	140657192	C	T	140657192	3	4	187	1	0	0	0	0	1	0	0	0	5019	643	23	1	1605	1	EHMT1	9	140657192	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	15375013	140657192	556239	77	33115											
ITIH2	3698	broad.mit.edu	37	chr10	7774362	7774362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgacttgcaggattttctatCgaaagacaagcatgcagatc	13	10	9	9	2	1	2	0	0	1	2	3	5	1	3	0	1	3	3	0	1	3	4	rs150529114		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:7774362C>T	ENST00000358415.4	+	14	1875	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L	ITIH2_ENST00000379587.4_Missense_Mutation_p.S559L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	570					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S570L(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATTTTCTATCGAAAGACAAG	0.488													4	27					0	0	0	0	T	7774362	C	T	7774362	3	4	187	1	0	0	0	0	1	0	0	0	7957	893	31	1	1763	1	ITIH2	10	7774362	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08		7774362	127760385	78	33116											
RET	5979	broad.mit.edu	37	chr10	43606744	43606744	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggtgccaactgcagcacGctaggggtggtcacctcagc	7	8	13	13	1	3	0	2	0	1	0	3	0	3	0	2	4	5	3	2	4	2	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:43606744G>A	ENST00000355710.3	+	7	1585	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	RET_ENST00000340058.5_Silent_p.T451T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	451					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACTGCAGCACGCTAGGGGTGG	0.582		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				10	67					0	0	0	0	A	43606744	G	A	43606744	2	1	187	1	0	0	0	0	0	0	0	1	13317	1074	38	1		1	RET	10	43606744	Silent	SNP	G	TCGA-CR-6487-01A-11D-1870-08	35832382	43606744	91928003	79	33117											
POLR3A	11128	broad.mit.edu	37	chr10	79760814	79760814	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccactgatggcctgctgtcCcacacaggcaatcatctgtg	8	9	10	14	0	2	1	1	1	1	0	3	1	3	1	3	2	1	2	3	2	1	0			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:79760814C>A	ENST00000372371.3	-	18	2535	c.2398G>T	c.(2398-2400)Gga>Tga	p.G800*		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	800					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.G800*(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCCTGCTGTCCCACACAGGCA	0.443													9	57					0.00448238	0.00450687	1	0	A	79760814	C	A	79760814	4	1	187	1	0	0	0	0	0	1	0	0	12300	632	22	4	1830	4	POLR3A	10	79760814	Nonsense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	36154070	79760814	55773933	80	33118											
CEP55	55165	broad.mit.edu	37	chr10	95276830	95276830	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaatatgaagaaacccAaaaagaagttcacaatttaa	24	7	5	5	0	1	4	1	1	0	3	1	4	1	4	1	0	1	1	1	0	11	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:95276830A>T	ENST00000371485.3	+	6	1122	c.818A>T	c.(817-819)cAa>cTa	p.Q273L		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	273					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GAAGAAACCCAAAAAGAAGTT	0.358													10	54					0	0	0	0	T	95276830	A	T	95276830	3	4	187	1	0	0	0	0	1	0	0	0	3284	130	5	5	836	5	CEP55	10	95276830	Missense_Mutation	SNP	A	TCGA-CR-6487-01A-11D-1870-08	15516016	95276830	40257917	81	33119											
PLCE1	51196	broad.mit.edu	37	chr10	95790868	95790868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagagaaaagtggtttctgCccagtcggctgcagatgaaa	12	9	12	8	1	2	3	1	1	1	2	3	4	2	3	1	2	2	3	1	2	3	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:95790868C>T	ENST00000260766.3	+	2	699	c.65C>T	c.(64-66)gCc>gTc	p.A22V	PLCE1_ENST00000371380.2_Missense_Mutation_p.A22V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	22					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTGGTTTCTGCCCAGTCGGCT	0.423													3	51					0	0	0	0	T	95790868	C	T	95790868	3	4	187	1	0	0	0	0	1	0	0	0	12106	739	26	4	67	4	PLCE1	10	95790868	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	514038	95790868	39743879	82	33120											
FAM178A	55719	broad.mit.edu	37	chr10	102683830	102683830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatgataccaaaagcaagaGagtccttccttgagaagcgt	14	9	9	9	1	0	3	0	2	0	2	2	5	2	3	3	0	3	1	3	0	6	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:102683830G>C	ENST00000238961.3	+	5	1220	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	FAM178A_ENST00000370271.3_Missense_Mutation_p.E358Q|FAM178A_ENST00000370269.3_Missense_Mutation_p.E358Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	358																	AAAAGCAAGAGAGTCCTTCCT	0.398													9	48					0	0	0	0	C	102683830	G	C	102683830	3	2	187	1	0	0	0	0	1	0	0	0	5544	943	33	2	1090	2	FAM178A	10	102683830	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	6892962	102683830	32850917	83	33121											
POLL	27343	broad.mit.edu	37	chr10	103339236	103339236	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgctcagcaggttctcGgtaggggaggcctaagagcc	7	7	15	12	2	2	1	1	0	1	1	4	2	3	2	3	5	2	4	3	5	2	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:103339236G>A	ENST00000370162.3	-	9	2196	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	DPCD_ENST00000416979.2_Intron|POLL_ENST00000370168.3_Nonsense_Mutation_p.R241*|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370158.3_Nonsense_Mutation_p.R293*|POLL_ENST00000370172.1_Nonsense_Mutation_p.R480*|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000299206.4_Nonsense_Mutation_p.R568*|POLL_ENST00000456836.2_Nonsense_Mutation_p.R305*|POLL_ENST00000370169.1_Nonsense_Mutation_p.R568*|POLL_ENST00000339310.3_Nonsense_Mutation_p.R291*	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	568					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GCAGGTTCTCGGTAGGGGAGG	0.647								DNA polymerases (catalytic subunits)					14	49					0	0	0	0	A	103339236	G	A	103339236	4	1	187	1	0	0	0	0	0	1	0	0	12277	1124	39	1	29	1	POLL	10	103339236	Nonsense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	655406	103339236	32195511	84	33122											
ADAM12	8038	broad.mit.edu	37	chr10	127726869	127726869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttccaaggtggccgaggtGagcctgacagggttggaagc	8	9	16	8	1	0	2	0	2	0	0	1	4	1	3	3	5	2	1	3	5	2	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:127726869G>A	ENST00000368679.4	-	20	2608	c.2299C>T	c.(2299-2301)Cac>Tac	p.H767Y		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	767					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGGCCGAGGTGAGCCTGACAG	0.587													3	18					0	0	0	0	A	127726869	G	A	127726869	3	1	187	1	0	0	0	0	1	0	0	0	236	1290	45	2	446	2	ADAM12	10	127726869	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	24387633	127726869	7807878	85	33123											
OR51V1	283111	broad.mit.edu	37	chr11	5221401	5221401	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggatgtggaaatgacagTaattaaaaaatttcagacag	20	9	9	3	0	1	2	1	1	0	1	1	4	1	4	0	2	0	1	0	2	6	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:5221401T>A	ENST00000321255.1	-	1	529	c.530A>T	c.(529-531)tAc>tTc	p.Y177F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAATGACAGTAATTAAAAAA	0.393													18	64					0	0	0	0	A	5221401	T	A	5221401	3	1	187	1	0	0	0	0	1	0	0	0	11178	1638	57	5	438	5	OR51V1	11	5221401	Missense_Mutation	SNP	T	TCGA-CR-6487-01A-11D-1870-08		5221401	129785115	86	33124											
APBB1	322	broad.mit.edu	37	chr11	6432243	6432243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagtacaggtgtatcaggCctttggggcccaagggtgcc	8	8	15	10	0	1	1	1	0	0	1	1	1	1	1	3	5	2	2	3	5	3	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:6432243C>T	ENST00000389906.2	-	2	434	c.335G>A	c.(334-336)gGc>gAc	p.G112D	APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.G112D|APBB1_ENST00000299402.6_Missense_Mutation_p.G112D	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	112					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GTGTATCAGGCCTTTGGGGCC	0.632													45	182					0	0	0	0	T	6432243	C	T	6432243	3	4	187	1	0	0	0	0	1	0	0	0	760	739	26	4	1849	4	APBB1	11	6432243	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	1210842	6432243	128574273	87	33125											
USP47	55031	broad.mit.edu	37	chr11	11971469	11971469	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctagatgctgtgtttgctAaaggaatgactgtacggcaa	11	12	12	6	1	0	2	0	1	0	1	0	3	0	3	0	2	4	6	0	2	6	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:11971469A>G	ENST00000339865.5	+	22	3941	c.3178A>G	c.(3178-3180)Aaa>Gaa	p.K1060E	USP47_ENST00000399455.2_Missense_Mutation_p.K1148E|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.K1128E	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1148					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGTGTTTGCTAAAGGAATGAC	0.338													6	36					0	0	0	0	G	11971469	A	G	11971469	3	3	187	1	0	0	0	0	1	0	0	0	17174	363	13	5	3264	5	USP47	11	11971469	Missense_Mutation	SNP	A	TCGA-CR-6487-01A-11D-1870-08	5539226	11971469	123035047	88	33126			1	50		2	2	16	N	C_A	7.122598e-05
USP47	55031	broad.mit.edu	37	chr11	11971484	11971484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctaaaggaatgactgtaCggcaatcaaaagaggaatta	17	9	10	5	1	1	2	1	1	0	1	1	4	1	4	0	3	2	3	0	3	9	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:11971484C>T	ENST00000339865.5	+	22	3956	c.3193C>T	c.(3193-3195)Cgg>Tgg	p.R1065W	USP47_ENST00000399455.2_Missense_Mutation_p.R1153W|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.R1133W	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1153					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AATGACTGTACGGCAATCAAA	0.358													7	37					0	0	0	0	T	11971484	C	T	11971484	3	4	187	1	0	0	0	0	1	0	0	0	17174	527	19	1	3279	1	USP47	11	11971484	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	15	11971484	123035032	89	33127			1	50		2	2	16	N	C_A	7.122598e-05
MICALCL	84953	broad.mit.edu	37	chr11	12345523	12345523	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctccattggttttcatAggagaagaagacacttagaa	13	14	8	6	0	2	4	1	0	1	4	3	5	2	4	1	2	0	1	1	2	5	7			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:12345523A>G	ENST00000256186.2	+	5	1833		c.e5-1			NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like						cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TGGTTTTCATAGGAGAAGAAG	0.353													3	77					0	0	0	0	G	12345523	A	G	12345523	5	3	187	1	0	0	0	0	0	0	1	0	9641	434	15	5	1555	5	MICALCL	11	12345523	Splice_Site	SNP	A	TCGA-CR-6487-01A-11D-1870-08	374039	12345523	122660993	90	33128											
PIK3C2A	5286	broad.mit.edu	37	chr11	17140215	17140215	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tataaattgtgtgctatctgGatatttcccaatgccctgga	10	15	8	8	0	1	0	0	0	1	0	2	2	2	2	2	2	2	1	2	2	6	6			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:17140215G>T	ENST00000265970.7	-	17	3011	c.3012C>A	c.(3010-3012)atC>atA	p.I1004I	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.I624I	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1004					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GTGCTATCTGGATATTTCCCA	0.289													29	120					7.01153e-11	7.33024e-11	1	0	T	17140215	G	T	17140215	2	4	187	1	0	0	0	0	0	0	0	1	11981	1164	41	2		2	PIK3C2A	11	17140215	Silent	SNP	G	TCGA-CR-6487-01A-11D-1870-08	4794692	17140215	117866301	91	33129											
USH1C	10083	broad.mit.edu	37	chr11	17548829	17548829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttgatgacctcctcatggGtacaggaggagatggaatat	11	10	14	6	0	1	3	1	2	0	1	2	6	2	5	2	5	1	2	2	5	3	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:17548829G>A	ENST00000005226.7	-	5	436	c.437C>T	c.(436-438)aCc>aTc	p.T146I	USH1C_ENST00000527720.1_Missense_Mutation_p.T115I|USH1C_ENST00000318024.4_Missense_Mutation_p.T146I|USH1C_ENST00000527020.1_Missense_Mutation_p.T146I	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	146	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTCCTCATGGGTACAGGAGGA	0.547													13	68					0	0	0	0	A	17548829	G	A	17548829	3	1	187	1	0	0	0	0	1	0	0	0	17130	1261	44	4	2432	4	USH1C	11	17548829	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	408614	17548829	117457687	92	33130											
OR5L2	26338	broad.mit.edu	37	chr11	55594821	55594821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtcacgttgttagccaatCtgggcatgactgcactgatt	9	12	11	9	1	2	2	1	2	1	0	2	3	2	2	1	1	2	4	1	1	2	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:55594821C>T	ENST00000378397.1	+	1	127	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GTTAGCCAATCTGGGCATGAC	0.498										HNSCC(27;0.073)			63	247					0	0	0	0	T	55594821	C	T	55594821	2	4	187	1	0	0	0	0	0	0	0	1	11242	912	32	2		2	OR5L2	11	55594821	Silent	SNP	C	TCGA-CR-6487-01A-11D-1870-08	38045992	55594821	79411695	93	33131											
OR5D16	390144	broad.mit.edu	37	chr11	55606633	55606633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaatcctctgctctacacaGttgccatctcccagaaactc	10	10	5	16	0	3	1	0	0	3	1	6	1	4	1	3	0	4	3	3	0	3	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:55606633G>A	ENST00000378396.1	+	1	406	c.406G>A	c.(406-408)Gtt>Att	p.V136I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCTCTACACAGTTGCCATCTC	0.453													20	83					0	0	0	0	A	55606633	G	A	55606633	3	1	187	1	0	0	0	0	1	0	0	0	11227	1029	36	4	408	4	OR5D16	11	55606633	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	11812	55606633	79399883	94	33132											
MMP13	4322	broad.mit.edu	37	chr11	102816405	102816405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagacagcatctactttatCaccaattcctgggaagtctt	12	13	6	10	0	3	1	1	0	2	1	4	2	4	2	2	1	2	1	2	1	5	6			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:102816405C>T	ENST00000260302.3	-	9	1313	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	MMP13_ENST00000340273.4_Missense_Mutation_p.D429N	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	429	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TCTACTTTATCACCAATTCCT	0.338													17	58					0	0	0	0	T	102816405	C	T	102816405	3	4	187	1	0	0	0	0	1	0	0	0	9721	826	29	2	138	2	MMP13	11	102816405	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	47209772	102816405	32190111	95	33133											
ARHGAP20	57569	broad.mit.edu	37	chr11	110450902	110450902	+	Frame_Shift_Del	DEL	A	A	-																															aaaggtttaatcttgggggtAaaaccttctcagtgttttgg																										TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:110450902delA	ENST00000260283.4	-	16	3052	c.2768delT	c.(2767-2769)tafs	p.L923fs	ARHGAP20_ENST00000533353.1_Frame_Shift_Del_p.L897fs|ARHGAP20_ENST00000529591.1_Frame_Shift_Del_p.L466fs|ARHGAP20_ENST00000527598.1_Frame_Shift_Del_p.L887fs|ARHGAP20_ENST00000524756.1_Frame_Shift_Del_p.L900fs|ARHGAP20_ENST00000528829.1_Frame_Shift_Del_p.L887fs|ARHGAP20_ENST00000357139.3_Frame_Shift_Del_p.L897fs	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	923					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCTTGGGGGTAAAACCTTCTC	0.493													30	104	---	---	---	---					-	110450902	A	-	110450902	7	5	187	1	0	1	0	1	0	0	0	0	872	372	13	0	811	0	ARHGAP20	11	110450902	Frame_Shift_Del	DEL	A	TCGA-CR-6487-01A-11D-1870-08	7634497	110450902	24555614	96	33134											
OR6M1	390261	broad.mit.edu	37	chr11	123676380	123676380	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgacggccctgggtggaGgggatacgcaggatggtaga	8	8	18	7	2	1	2	0	1	1	1	1	5	1	5	1	7	1	2	1	7	2	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:123676380G>A	ENST00000309154.2	-	1	715	c.678C>T	c.(676-678)ccC>ccT	p.P226P		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CCTGGGTGGAGGGGATACGCA	0.498													5	21					0	0	0	0	A	123676380	G	A	123676380	2	1	187	1	0	0	0	0	0	0	0	1	11276	987	35	4		4	OR6M1	11	123676380	Silent	SNP	G	TCGA-CR-6487-01A-11D-1870-08	13225478	123676380	11330136	97	33135											
PARP11	57097	broad.mit.edu	37	chr12	3931108	3931108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattcggttgcgatccatcGtcttcccaaagagattagca	11	12	8	10	3	1	1	0	0	1	1	5	3	3	1	2	1	2	2	2	1	3	5			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:3931108G>A	ENST00000228820.4	-	6	623	c.479C>T	c.(478-480)aCg>aTg	p.T160M	PARP11_ENST00000447133.3_Missense_Mutation_p.T79M|PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000427057.2_Missense_Mutation_p.T79M|PARP11_ENST00000397096.2_Missense_Mutation_p.T153M	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	153	PARP catalytic.						NAD+ ADP-ribosyltransferase activity	p.T153M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GCGATCCATCGTCTTCCCAAA	0.348													19	72					0	0	0	0	A	3931108	G	A	3931108	3	1	187	1	0	0	0	0	1	0	0	0	11527	1145	40	1	549	1	PARP11	12	3931108	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08		3931108	129920787	98	33136											
IFFO1	25900	broad.mit.edu	37	chr12	6664531	6664531	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccaccccatccgggtgcAcccacgacaagccaggccct	8	3	9	21	3	0	0	0	0	0	0	1	1	1	0	7	2	2	1	7	2	1	0			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:6664531A>G	ENST00000336604.4	-	1	706	c.665T>C	c.(664-666)gTg>gCg	p.V222A	IFFO1_ENST00000356896.4_Missense_Mutation_p.V222A|IFFO1_ENST00000396840.2_Missense_Mutation_p.V222A	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	222						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						ATCCGGGTGCACCCACGACAA	0.682													8	50					0	0	0	0	G	6664531	A	G	6664531	3	3	187	1	0	0	0	0	1	0	0	0	7563	159	6	5	1066	5	IFFO1	12	6664531	Missense_Mutation	SNP	A	TCGA-CR-6487-01A-11D-1870-08	2733423	6664531	127187364	99	33137											
GPR162	27239	broad.mit.edu	37	chr12	6933294	6933294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtggtgcagctgcgtcGtcaggcttcctccgactatg	4	11	13	13	4	1	0	1	0	0	0	4	1	3	0	3	2	4	3	3	2	1	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:6933294G>A	ENST00000311268.3	+	2	1017	c.230G>A	c.(229-231)cGt>cAt	p.R77H	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	77						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CAGCTGCGTCGTCAGGCTTCC	0.602													11	62					0	0	0	0	A	6933294	G	A	6933294	3	1	187	1	0	0	0	0	1	0	0	0	6715	1145	40	1	251	1	GPR162	12	6933294	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	268763	6933294	126918601	100	33138											
RAPGEF3	10411	broad.mit.edu	37	chr12	48131465	48131465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtgctcagggactgctccGagcctggtggaggagagtag	7	7	19	8	1	1	1	1	0	0	1	2	5	2	3	2	5	3	3	2	5	1	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:48131465G>A	ENST00000405493.2	-	28	2740	c.2531C>T	c.(2530-2532)tCg>tTg	p.S844L	RAPGEF3_ENST00000449771.2_Missense_Mutation_p.S886L|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.S844L|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.S886L|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.S844L|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.S777L|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	844					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GGACTGCTCCGAGCCTGGTGG	0.602													8	25					0	0	0	0	A	48131465	G	A	48131465	3	1	187	1	0	0	0	0	1	0	0	0	13127	1059	37	1	118	1	RAPGEF3	12	48131465	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	41198171	48131465	85720430	101	33139											
SMARCD1	6602	broad.mit.edu	37	chr12	50480110	50480110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggtccagcagcaggCggtccaaaatcgaaaccaca	14	3	10	14	2	0	0	0	0	0	0	3	1	2	0	4	3	4	3	4	3	3	0			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:50480110C>T	ENST00000394963.4	+	2	742	c.344C>T	c.(343-345)gCg>gTg	p.A115V	SMARCD1_ENST00000381513.4_Missense_Mutation_p.A115V	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	115	Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CAGCAGCAGGCGGTCCAAAAT	0.617													7	24					0	0	0	0	T	50480110	C	T	50480110	3	4	187	1	0	0	0	0	1	0	0	0	14865	768	27	1	350	1	SMARCD1	12	50480110	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	2348645	50480110	83371785	102	33140											
NAV3	89795	broad.mit.edu	37	chr12	78513538	78513538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactaaaattgggtcagggCgctcgagtcctgtcaccgtc	9	9	11	12	3	2	0	2	0	0	0	5	1	3	0	2	2	1	1	2	2	3	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:78513538C>T	ENST00000397909.2	+	15	3735	c.3562C>T	c.(3562-3564)Cgc>Tgc	p.R1188C	NAV3_ENST00000228327.6_Missense_Mutation_p.R1188C|NAV3_ENST00000266692.7_Missense_Mutation_p.R1188C|NAV3_ENST00000536525.2_Missense_Mutation_p.R1188C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1188	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R1188S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGGTCAGGGCGCTCGAGTCC	0.493										HNSCC(70;0.22)			9	43					0	0	0	0	T	78513538	C	T	78513538	3	4	187	1	0	0	0	0	1	0	0	0	10255	768	27	1	3620	1	NAV3	12	78513538	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	28033428	78513538	55338357	103	33141											
CCDC64	92558	broad.mit.edu	37	chr12	120510422	120510422	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacggactcctccatggaCgagtcttcagaaacctcgtc	9	9	8	15	3	2	1	1	0	1	1	7	4	5	3	4	2	1	0	4	2	1	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:120510422C>T	ENST00000397558.2	+	6	1197	c.1197C>T	c.(1195-1197)gaC>gaT	p.D399D	CCDC64_ENST00000446727.2_Intron|CCDC64_ENST00000257583.4_Silent_p.D48D	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	399					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCCATGGACGAGTCTTCAG	0.572													13	50					0	0	0	0	T	120510422	C	T	120510422	2	4	187	1	0	0	0	0	0	0	0	1	2862	535	19	1		1	CCDC64	12	120510422	Silent	SNP	C	TCGA-CR-6487-01A-11D-1870-08	41996884	120510422	13341473	104	33142											
MLEC	9761	broad.mit.edu	37	chr12	121125205	121125205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctcggcgtggccggcGtggccggcgcggcgggggcc	0	3	23	15	9	0	0	0	0	0	0	1	0	0	0	4	9	0	1	4	9	0	0			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:121125205G>A	ENST00000228506.3	+	1	534	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	MLEC_ENST00000412616.2_Missense_Mutation_p.V36M	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	36					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CGTggccggcgtggccggcgc	0.746													4	6					0	0	0	0	A	121125205	G	A	121125205	3	1	187	1	0	0	0	0	1	0	0	0	9682	1145	40	1	108	1	MLEC	12	121125205	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	614783	121125205	12726690	105	33143											
RB1	5925	broad.mit.edu	37	chr13	48954379	48954379	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaatggccacatatagcagTaagttaaattttcataaata	17	13	6	5	0	1	0	1	0	0	0	1	0	1	0	1	1	1	4	1	1	9	9			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr13:48954379T>G	ENST00000267163.4	+	16	1636		c.e16+2			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATATAGCAGTAAGTTAAATT	0.338		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			4	10					0	0	0	0	G	48954379	T	G	48954379	5	3	187	1	0	0	0	0	0	0	1	0	13180	1652	57	5	1562	5	RB1	13	48954379	Splice_Site	SNP	T	TCGA-CR-6487-01A-11D-1870-08		48954379	66215499	106	33144											
PCCA	5095	broad.mit.edu	37	chr13	100915005	100915005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggttttagattgtcatctCaagaagctgcttctagtttt	9	18	8	6	0	3	2	2	0	2	2	4	2	3	2	0	1	2	4	0	1	4	7			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr13:100915005C>G	ENST00000376285.1	+	10	777	c.739C>G	c.(739-741)Caa>Gaa	p.Q247E	PCCA_ENST00000376279.3_Missense_Mutation_p.Q247E|PCCA_ENST00000376286.4_Missense_Mutation_p.Q221E	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	247	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ATTGTCATCTCAAGAAGCTGC	0.418													30	136					0	0	0	0	G	100915005	C	G	100915005	3	3	187	1	0	0	0	0	1	0	0	0	11575	827	29	2	777	2	PCCA	13	100915005	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	51960626	100915005	14254873	107	33145											
PSMA6	5687	broad.mit.edu	37	chr14	35786477	35786477	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttacagaagcagagattGatgctcaccttgttgctcta	10	14	8	9	0	3	3	1	1	2	2	3	4	3	3	1	0	4	4	1	0	3	6			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:35786477G>C	ENST00000556506.1	+	6	615	c.611G>C	c.(610-612)tGa>tCa	p.*204S	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.D242H|PSMA6_ENST00000261479.4_Missense_Mutation_p.D236H|PSMA6_ENST00000540871.1_Missense_Mutation_p.D217H|PSMA6_ENST00000555764.1_Missense_Mutation_p.D157H			P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AGCAGAGATTGATGCTCACCT	0.373													29	131					0	0	0	0	C	35786477	G	C	35786477	4	2	187	1	0	0	0	0	0	0	0	0	12750	1290	45	2	732	2	PSMA6	14	35786477	Nonstop_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08		35786477	71563063	108	33146											
ZFYVE26	23503	broad.mit.edu	37	chr14	68252948	68252948	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtacgtggtctatccgtcGacctggaaatagatgaagga	12	9	13	7	3	1	2	0	1	1	1	3	6	2	4	2	3	1	1	2	3	5	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:68252948G>A	ENST00000347230.4	-	17	3160	c.3022C>T	c.(3022-3024)Cga>Tga	p.R1008*	ZFYVE26_ENST00000555452.1_Nonsense_Mutation_p.R1008*	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1008					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTATCCGTCGACCTGGAAAT	0.388													8	19					0	0	0	0	A	68252948	G	A	68252948	4	1	187	1	0	0	0	0	0	1	0	0	17763	1066	37	1	4701	1	ZFYVE26	14	68252948	Nonsense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	32466471	68252948	39096592	109	33147											
PCNX	22990	broad.mit.edu	37	chr14	71493536	71493536	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcattggtctcctgcctCaggtgaatacatttgtaatg	8	17	8	8	0	3	1	2	1	1	0	4	1	3	1	2	2	2	1	2	2	3	6			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:71493536C>T	ENST00000304743.2	+	15	3849	c.3403C>T	c.(3403-3405)Cag>Tag	p.Q1135*	PCNX_ENST00000238570.5_Nonsense_Mutation_p.Q1135*|PCNX_ENST00000439984.3_Nonsense_Mutation_p.Q1024*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1135						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCTCCTGCCTCAGGTGAATAC	0.284													14	64					0	0	0	0	T	71493536	C	T	71493536	4	4	187	1	0	0	0	0	0	1	0	0	11662	827	29	2	3461	2	PCNX	14	71493536	Nonsense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	3240588	71493536	35856004	110	33148											
VSX2	338917	broad.mit.edu	37	chr14	74726405	74726405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctacggggccatggtgcGgcactccatccccctgcccg	4	7	12	18	3	1	0	0	0	1	0	3	0	3	0	5	4	3	2	5	4	1	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:74726405G>A	ENST00000261980.2	+	4	770	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	227	CVC.		R -> W (in MCOP2).		multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GCCATGGTGCGGCACTCCATC	0.637													12	56					0	0	0	0	A	74726405	G	A	74726405	3	1	187	1	0	0	0	0	1	0	0	0	17328	1116	39	1	694	1	VSX2	14	74726405	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	3232869	74726405	32623135	111	33149											
TDP1	55775	broad.mit.edu	37	chr14	90433740	90433740	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctttgacgtggactggctCgtaaaacagtatccaccaga	11	10	10	10	2	0	2	0	1	0	1	2	3	1	3	2	2	2	4	2	2	3	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:90433740C>T	ENST00000335725.4	+	5	883	c.633C>T	c.(631-633)ctC>ctT	p.L211L	TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555880.1_Silent_p.L211L|TDP1_ENST00000393452.3_Silent_p.L211L|TDP1_ENST00000393454.2_Silent_p.L211L|TDP1_ENST00000555565.1_3'UTR	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	211					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGGACTGGCTCGTAAAACAGT	0.408								Repair of DNA-protein crosslinks					18	81					0	0	0	0	T	90433740	C	T	90433740	2	4	187	1	0	0	0	0	0	0	0	1	15822	871	31	1		1	TDP1	14	90433740	Silent	SNP	C	TCGA-CR-6487-01A-11D-1870-08	15707335	90433740	16915800	112	33150											
KCNK13	56659	broad.mit.edu	37	chr14	90650902	90650902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcctctatcgctttgccaActtcgtcttcatcctcatgg	6	14	7	14	2	4	0	2	0	2	0	7	0	5	0	3	2	2	1	3	2	2	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:90650902A>G	ENST00000282146.4	+	2	1223	c.782A>G	c.(781-783)aAc>aGc	p.N261S		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	261						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CGCTTTGCCAACTTCGTCTTC	0.493													23	81					0	0	0	0	G	90650902	A	G	90650902	3	3	187	1	0	0	0	0	1	0	0	0	8114	43	2	5	788	5	KCNK13	14	90650902	Missense_Mutation	SNP	A	TCGA-CR-6487-01A-11D-1870-08	217162	90650902	16698638	113	33151											
ATG2B	55102	broad.mit.edu	37	chr14	96783566	96783566	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagttcttgttctgagaGtctaatttttttttcctgcg	6	20	9	6	1	3	2	0	2	3	2	4	4	4	2	1	0	1	2	1	0	1	8			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:96783566G>A	ENST00000359933.4	-	20	4019	c.3126C>T	c.(3124-3126)gaC>gaT	p.D1042D		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1042										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGTTCTGAGAGTCTAATTTTT	0.373													12	60					0	0	0	0	A	96783566	G	A	96783566	2	1	187	1	0	0	0	0	0	0	0	1	1098	1020	36	4		4	ATG2B	14	96783566	Silent	SNP	G	TCGA-CR-6487-01A-11D-1870-08	6132664	96783566	10565974	114	33152											
ADAM10	102	broad.mit.edu	37	chr15	58925416	58925416	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatccaaagttatgtccAacttcgtgagcaaaagtaat	14	10	10	7	1	0	1	0	1	0	0	3	2	2	2	2	2	2	3	2	2	6	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr15:58925416A>G	ENST00000260408.3	-	9	1598	c.1155T>C	c.(1153-1155)gtT>gtC	p.V385V	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Silent_p.V84V|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	385	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AGTTATGTCCAACTTCGTGAG	0.323													13	29					0	0	0	0	G	58925416	A	G	58925416	2	3	187	1	0	0	0	0	0	0	0	1	234	117	5	5		5	ADAM10	15	58925416	Silent	SNP	A	TCGA-CR-6487-01A-11D-1870-08		58925416	43605976	115	33153											
MYO1E	4643	broad.mit.edu	37	chr15	59455404	59455404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgggtcttctcctcgtaaCgctttgctaagaggcttagg	6	14	11	10	2	3	1	0	0	3	1	5	1	3	1	1	3	2	4	1	3	3	5			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr15:59455404C>T	ENST00000288235.4	-	23	2978	c.2579G>A	c.(2578-2580)cGt>cAt	p.R860H		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	860					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTCCTCGTAACGCTTTGCTAA	0.433													7	27					0	0	0	0	T	59455404	C	T	59455404	3	4	187	1	0	0	0	0	1	0	0	0	10142	536	19	1	771	1	MYO1E	15	59455404	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	529988	59455404	43075988	116	33154											
SRRM2	23524	broad.mit.edu	37	chr16	2816182	2816182	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaacccccctgataagcCgacgtaggtccagatctcga	11	6	9	15	3	1	3	0	1	1	2	3	5	2	3	6	1	2	1	6	1	3	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:2816182C>T	ENST00000301740.8	+	11	6202	c.5653C>T	c.(5653-5655)Cga>Tga	p.R1885*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1885	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCTGATAAGCCGACGTAGGTC	0.592													9	49					0	0	0	0	T	2816182	C	T	2816182	4	4	187	1	0	0	0	0	0	1	0	0	15259	644	23	1	5691	1	SRRM2	16	2816182	Nonsense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08		2816182	87538571	117	33155											
PLEKHG4	25894	broad.mit.edu	37	chr16	67318623	67318623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgttgcaggccttgaCgtgggctgaggaggggcagc	5	8	19	9	1	0	2	0	2	0	0	0	3	0	3	2	6	2	4	2	6	0	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:67318623C>T	ENST00000360461.5	+	12	4235	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.T486M|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.T567M|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.T567M	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	567					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGGCCTTGACGTGGGCTGAG	0.637													5	28					0	0	0	0	T	67318623	C	T	67318623	3	4	187	1	0	0	0	0	1	0	0	0	12143	536	19	1	1746	1	PLEKHG4	16	67318623	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	64502441	67318623	23036130	118	33156											
NFAT5	10725	broad.mit.edu	37	chr16	69703948	69703948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcagtgaaaggagaagaaGaagtgtttttaatcggcaag	15	10	13	3	1	1	4	1	1	0	3	2	5	1	4	0	2	0	3	0	2	6	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:69703948G>A	ENST00000349945.1	+	9	2708	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	NFAT5_ENST00000566899.1_Missense_Mutation_p.E386K|NFAT5_ENST00000354436.2_Missense_Mutation_p.E462K|NFAT5_ENST00000567239.1_Missense_Mutation_p.E480K|NFAT5_ENST00000393742.2_Missense_Mutation_p.E386K|NFAT5_ENST00000432919.1_Missense_Mutation_p.E480K	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	462	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGAGAAGAAGAAGTGTTTTT	0.363													8	38					0	0	0	0	A	69703948	G	A	69703948	3	1	187	1	0	0	0	0	1	0	0	0	10430	943	33	2	1468	2	NFAT5	16	69703948	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	2385325	69703948	20650805	119	33157											
LDHD	197257	broad.mit.edu	37	chr16	75146543	75146543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgaccctgcccagttcctCggcgtcatcagggttgacca	6	10	10	15	2	2	2	2	2	0	0	4	2	3	2	4	2	1	2	4	2	0	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:75146543C>T	ENST00000300051.4	-	10	1361	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	LDHD_ENST00000450168.2_Missense_Mutation_p.E416K	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	439							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CCCAGTTCCTCGGCGTCATCA	0.602													10	39					0	0	0	0	T	75146543	C	T	75146543	3	4	187	1	0	0	0	0	1	0	0	0	8756	893	31	1	216	1	LDHD	16	75146543	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	5442595	75146543	15208210	120	33158											
VMO1	284013	broad.mit.edu	37	chr17	4688867	4688867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgctgctgtgttgtcaccGagggtcgtgggtgcctccac	3	12	14	12	3	1	0	1	0	0	0	4	1	2	0	3	2	2	3	3	2	0	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:4688867G>A	ENST00000328739.5	-	3	478	c.399C>T	c.(397-399)ctC>ctT	p.L133L	VMO1_ENST00000354194.4_3'UTR|VMO1_ENST00000416307.2_3'UTR|VMO1_ENST00000441199.2_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	133					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						TGTTGTCACCGAGGGTCGTGG	0.642													6	23					0	0	0	0	A	4688867	G	A	4688867	2	1	187	1	0	0	0	0	0	0	0	1	17273	1045	37	1		1	VMO1	17	4688867	Silent	SNP	G	TCGA-CR-6487-01A-11D-1870-08		4688867	76506343	121	33159											
CCT6B	10693	broad.mit.edu	37	chr17	33288392	33288392	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacctcagccttggagttGacggcctttatcgcagccat	7	10	10	14	2	1	1	1	1	0	0	2	2	1	2	5	2	2	2	5	2	1	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:33288392G>C	ENST00000314144.5	-	1	136	c.21C>G	c.(19-21)gtC>gtG	p.V7V	CCT6B_ENST00000436961.3_Silent_p.V7V|CCT6B_ENST00000421975.3_Silent_p.V7V	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	7					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CCTTGGAGTTGACGGCCTTTA	0.572													4	48					0	0	0	0	C	33288392	G	C	33288392	2	2	187	1	0	0	0	0	0	0	0	1	2987	1277	45	2		2	CCT6B	17	33288392	Silent	SNP	G	TCGA-CR-6487-01A-11D-1870-08	28599525	33288392	47906818	122	33160											
C17orf66	256957	broad.mit.edu	37	chr17	34190080	34190080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcctttgaccctcatttttCtccttcagctgtttgatgag	6	18	6	11	0	3	3	2	3	1	0	5	3	4	3	3	0	1	2	3	0	0	5			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:34190080C>G	ENST00000311880.2	-	8	823	c.675G>C	c.(673-675)gaG>gaC	p.E225D	C17orf66_ENST00000592980.1_Missense_Mutation_p.E185D	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	225							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCTCATTTTTCTCCTTCAGCT	0.537													20	104					0	0	0	0	G	34190080	C	G	34190080	3	3	187	1	0	0	0	0	1	0	0	0	1889	912	32	2	1069	2	C17orf66	17	34190080	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	901688	34190080	47005130	123	33161											
ABCC3	8714	broad.mit.edu	37	chr17	48750428	48750428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggatgacccactgtccGcggtggactctcatgtggcc	5	10	13	13	2	1	1	1	1	1	0	3	3	2	3	3	4	1	1	3	4	0	0			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:48750428G>A	ENST00000285238.8	+	18	2418	c.2338G>A	c.(2338-2340)Gcg>Acg	p.A780T		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	780	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCACTGTCCGCGGTGGACTC	0.602													13	46					0	0	0	0	A	48750428	G	A	48750428	3	1	187	1	0	0	0	0	1	0	0	0	54	1087	38	1	2492	1	ABCC3	17	48750428	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	14560348	48750428	32444782	124	33162											
TEX2	55852	broad.mit.edu	37	chr17	62238187	62238187	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccaatttctccaaccttCagggcttcaacaagaggctc	10	11	7	13	0	3	1	2	0	1	1	5	1	3	1	3	2	3	2	3	2	4	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:62238187C>T	ENST00000258991.3	-	8	2883	c.2799G>A	c.(2797-2799)ctG>ctA	p.L933L	TEX2_ENST00000584379.1_Silent_p.L926L|TEX2_ENST00000583097.1_Silent_p.L926L			Q8IWB9	TEX2_HUMAN	testis expressed 2	926					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTCCAACCTTCAGGGCTTCAA	0.443													54	213					0	0	0	0	T	62238187	C	T	62238187	2	4	187	1	0	0	0	0	0	0	0	1	15875	813	29	2		2	TEX2	17	62238187	Silent	SNP	C	TCGA-CR-6487-01A-11D-1870-08	13487759	62238187	18957023	125	33163											
MC2R	4158	broad.mit.edu	37	chr18	13884716	13884716	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggtcaatgacggcatTgcacatgatcaacatgccgt	12	8	12	9	2	2	2	2	2	0	0	2	3	2	2	1	3	3	2	1	3	3	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr18:13884716T>A	ENST00000327606.3	-	2	982	c.802A>T	c.(802-804)Aat>Tat	p.N268Y		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	268					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ATGACGGCATTGCACATGATC	0.502													23	69					0	0	0	0	A	13884716	T	A	13884716	3	1	187	1	0	0	0	0	1	0	0	0	9433	1812	63	5	95	5	MC2R	18	13884716	Missense_Mutation	SNP	T	TCGA-CR-6487-01A-11D-1870-08		13884716	64192532	126	33164											
PQLC1	80148	broad.mit.edu	37	chr18	77664144	77664144	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaggaagtaggccgtcttGaaggcgtcaccactggtcca	10	7	13	11	2	2	1	1	1	1	0	3	2	3	2	3	4	1	2	3	4	3	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr18:77664144G>C	ENST00000590381.1	-	4	548	c.377C>G	c.(376-378)tCa>tGa	p.S126*	PQLC1_ENST00000357575.4_Missense_Mutation_p.F198L|PQLC1_ENST00000397778.2_Missense_Mutation_p.F216L|PQLC1_ENST00000590895.1_5'UTR|PQLC1_ENST00000409073.1_Missense_Mutation_p.F133L	NM_001146343.1	NP_001139815.1	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	0						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		AGGCCGTCTTGAAGGCGTCAC	0.647													14	20					0	0	0	0	C	77664144	G	C	77664144	4	2	187	1	0	0	0	0	0	1	0	0	12494	1294	45	2	171	2	PQLC1	18	77664144	Nonsense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	63779428	77664144	413104	127	33165											
CHAF1A	10036	broad.mit.edu	37	chr19	4431980	4431980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagaaccataaggtccGccagaaactgaaggccaagg	14	4	11	12	1	0	3	0	2	0	2	1	4	1	3	5	3	2	0	5	3	5	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:4431980G>A	ENST00000301280.5	+	12	2080	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	660	Binds to p60.|Necessary for homodimerization and competence for chromatin assembly.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CATAAGGTCCGCCAGAAACTG	0.562								Chromatin Structure					4	112					0	0	0	0	A	4431980	G	A	4431980	3	1	187	1	0	0	0	0	1	0	0	0	3340	1087	38	1	2025	1	CHAF1A	19	4431980	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08		4431980	54697003	128	33166											
ISYNA1	51477	broad.mit.edu	37	chr19	18546719	18546719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggtggttgtaactcaCgatggacatggtctgtgggt	7	11	15	8	1	2	0	1	0	1	0	2	2	2	1	1	5	1	2	1	5	1	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:18546719C>T	ENST00000545187.1	-	5	824	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	ISYNA1_ENST00000317018.6_Missense_Mutation_p.V128M|ISYNA1_ENST00000578963.1_Missense_Mutation_p.V202M|ISYNA1_ENST00000338128.7_Missense_Mutation_p.V330M|ISYNA1_ENST00000457269.3_Missense_Mutation_p.V276M			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	330					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TTGTAACTCACGATGGACATG	0.622													40	160					0	0	0	0	T	18546719	C	T	18546719	3	4	187	1	0	0	0	0	1	0	0	0	7920	536	19	1	704	1	ISYNA1	19	18546719	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	14114739	18546719	40582264	129	33167											
AXL	558	broad.mit.edu	37	chr19	41765694	41765694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgtagctgcctcactgCggctgaggtccatcctgctg	4	12	11	14	1	1	1	1	1	0	0	4	1	4	1	4	2	4	4	4	2	1	2	rs61737385		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:41765694C>T	ENST00000301178.4	+	20	2760	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	AXL_ENST00000593513.1_Missense_Mutation_p.A589V|AXL_ENST00000359092.3_Missense_Mutation_p.A848V	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	857						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TGCCTCACTGCGGCTGAGGTC	0.637													7	42					0	0	0	0	T	41765694	C	T	41765694	3	4	187	1	0	0	0	0	1	0	0	0	1242	768	27	1	2648	1	AXL	19	41765694	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	23218975	41765694	17363289	130	33168											
IRF2BP1	26145	broad.mit.edu	37	chr19	46388584	46388584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaagcaaggcccttcgcGccccctcagccacggcctcc	7	4	9	21	3	1	0	1	0	0	0	3	0	2	0	7	2	3	1	7	2	2	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:46388584G>A	ENST00000302165.3	-	1	792	c.449C>T	c.(448-450)gCg>gTg	p.A150V		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGCCCTTCGCGCCCCCTCAGC	0.716													6	16					0	0	0	0	A	46388584	G	A	46388584	3	1	187	1	0	0	0	0	1	0	0	0	7882	1087	38	1	1309	1	IRF2BP1	19	46388584	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	4622890	46388584	12740399	131	33169											
KLK3	354	broad.mit.edu	37	chr19	51361366	51361366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcaggtcagccacagcttCccacacccgctctacgatat	9	10	6	16	2	3	0	2	0	1	0	4	1	4	0	3	1	3	2	3	1	2	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:51361366C>A	ENST00000360617.3	+	3	288	c.288C>A	c.(286-288)ttC>ttA	p.F96L	KLK3_ENST00000595952.1_Intron|KLK3_ENST00000326003.2_Missense_Mutation_p.F96L|KLK3_ENST00000593997.1_Missense_Mutation_p.F96L|KLK3_ENST00000597483.1_Intron			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	96	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCCACAGCTTCCCACACCCGC	0.577													13	41					1.49906e-05	1.52391e-05	1	0	A	51361366	C	A	51361366	3	1	187	1	0	0	0	0	1	0	0	0	8457	854	30	2	302	2	KLK3	19	51361366	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	4972782	51361366	7767617	132	33170											
ZNF320	162967	broad.mit.edu	37	chr19	53384034	53384034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgaaggtgaattaaaggCtttaccacaatcaccacact	14	10	8	9	0	1	2	1	2	0	0	1	2	1	2	2	2	1	1	2	2	6	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:53384034C>T	ENST00000595635.1	-	8	1846	c.1345G>A	c.(1345-1347)Gcc>Acc	p.A449T	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.A449T	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GAATTAAAGGCTTTACCACAA	0.403													6	65					0	0	0	0	T	53384034	C	T	53384034	3	4	187	1	0	0	0	0	1	0	0	0	17934	797	28	4	188	4	ZNF320	19	53384034	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	2022668	53384034	5744949	133	33171											
KIR3DL3	115653	broad.mit.edu	37	chr19	55239242	55239242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttggacagctccacgatgCgggttcccaggtcaactatt	8	10	11	12	3	1	0	1	0	0	0	3	2	3	1	2	3	3	3	2	3	2	4			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:55239242C>T	ENST00000291860.1	+	4	539	c.521C>T	c.(520-522)gCg>gTg	p.A174V	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	174	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity	p.A174V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTCCACGATGCGGGTTCCCAG	0.547													62	41					0	0	0	0	T	55239242	C	T	55239242	3	4	187	1	0	0	0	0	1	0	0	0	8374	768	27	1	535	1	KIR3DL3	19	55239242	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	1855208	55239242	3889741	134	33172											
NLRP4	147945	broad.mit.edu	37	chr19	56369057	56369057	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggatacacaaagacctatCaagctcacgcaaagcagaaa	19	4	7	11	1	2	2	2	0	0	2	2	3	2	3	1	1	3	3	1	1	6	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:56369057C>G	ENST00000301295.6	+	3	720	c.298C>G	c.(298-300)Caa>Gaa	p.Q100E	NLRP4_ENST00000346986.5_Missense_Mutation_p.Q100E|NLRP4_ENST00000587891.1_Missense_Mutation_p.Q25E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	100							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAAGACCTATCAAGCTCACGC	0.423													17	74					0	0	0	0	G	56369057	C	G	56369057	3	3	187	1	0	0	0	0	1	0	0	0	10549	827	29	2	304	2	NLRP4	19	56369057	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	1129815	56369057	2759926	135	33173											
PEG3	5178	broad.mit.edu	37	chr19	57328787	57328787	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttatcatctgacattctgggGaatctctgtgaccggtcgct	7	14	10	10	2	4	2	1	2	3	0	6	3	4	3	1	3	0	1	1	3	2	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:57328787G>C	ENST00000326441.9	-	10	1386	c.1023C>G	c.(1021-1023)ttC>ttG	p.F341L	PEG3_ENST00000593695.1_Missense_Mutation_p.F215L|PEG3_ENST00000598410.1_Missense_Mutation_p.F217L|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.F341L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	341					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACATTCTGGGGAATCTCTGTG	0.473													12	83					0	0	0	0	C	57328787	G	C	57328787	3	2	187	1	0	0	0	0	1	0	0	0	11791	1165	41	2	3747	2	PEG3	19	57328787	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08	959730	57328787	1800196	136	33174											
ZNF324B	388569	broad.mit.edu	37	chr19	58967762	58967762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagcccttcgtgtgcaCgcagtgtggccgcgccttcc	5	8	13	15	5	0	1	0	0	0	1	2	2	1	1	4	1	2	2	4	1	1	2	rs143809080		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:58967762C>T	ENST00000391696.1	+	3	2353	c.1421C>T	c.(1420-1422)aCg>aTg	p.T474M	ZNF324B_ENST00000336614.4_Missense_Mutation_p.T484M|ZNF324B_ENST00000545523.1_Missense_Mutation_p.T484M			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTCGTGTGCACGCAGTGTGGC	0.672													11	62					0	0	0	0	T	58967762	C	T	58967762	3	4	187	1	0	0	0	0	1	0	0	0	17940	536	19	1	1461	1	ZNF324B	19	58967762	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	1638975	58967762	161221	137	33175											
PLCB1	23236	broad.mit.edu	37	chr20	8719969	8719969	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagaaggaggtaaattcaTtggccaccgtatcttgccag	12	10	11	8	1	2	2	1	1	1	1	2	3	2	3	3	3	1	2	3	3	5	5			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr20:8719969T>C	ENST00000378641.3	+	21	2745	c.2270T>C	c.(2269-2271)aTt>aCt	p.I757T	PLCB1_ENST00000338037.6_Missense_Mutation_p.I757T|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.I757T	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	757	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGTAAATTCATTGGCCACCGT	0.418													13	69					0	0	0	0	C	8719969	T	C	8719969	3	2	187	1	0	0	0	0	1	0	0	0	12099	1493	52	5	2352	5	PLCB1	20	8719969	Missense_Mutation	SNP	T	TCGA-CR-6487-01A-11D-1870-08		8719969	54305551	138	33176											
TMEM50B	757	broad.mit.edu	37	chr21	34823152	34823152	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagctcttcggttcttccAaatttgtagatcagagtgct	9	15	8	9	1	3	2	1	0	2	2	5	2	4	2	1	1	2	4	1	1	3	6			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr21:34823152A>G	ENST00000542230.2	-	7	664	c.450T>C	c.(448-450)ttT>ttC	p.F150F		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	150						endoplasmic reticulum|integral to membrane|plasma membrane				breast(1)|kidney(1)|ovary(1)|skin(1)	4						CGGTTCTTCCAAATTTGTAGA	0.348													13	40					0	0	0	0	G	34823152	A	G	34823152	2	3	187	1	0	0	0	0	0	0	0	1	16270	127	5	5		5	TMEM50B	21	34823152	Silent	SNP	A	TCGA-CR-6487-01A-11D-1870-08		34823152	13306743	139	33177											
DSCAM	1826	broad.mit.edu	37	chr21	41725414	41725414	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacgtacaggcggcctatCaccttagcagttccgtatct	8	12	8	13	3	3	0	2	0	1	0	4	0	4	0	3	2	2	4	3	2	4	6			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr21:41725414C>T	ENST00000400454.1	-	5	1389	c.912G>A	c.(910-912)gtG>gtA	p.V304V		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	304	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCGGCCTATCACCTTAGCAG	0.502													28	152					0	0	0	0	T	41725414	C	T	41725414	2	4	187	1	0	0	0	0	0	0	0	1	4804	813	29	2		2	DSCAM	21	41725414	Silent	SNP	C	TCGA-CR-6487-01A-11D-1870-08	6902262	41725414	6404481	140	33178											
PRDM15	63977	broad.mit.edu	37	chr21	43221624	43221624	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agactgtgggttcgaggcttCcggctgggggtggatctgga	5	10	19	7	2	1	1	0	0	1	1	3	4	2	3	1	7	0	3	1	7	0	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr21:43221624C>A	ENST00000422911.1	-	25	3474	c.3373G>T	c.(3373-3375)Gaa>Taa	p.E1125*	PRDM15_ENST00000538201.1_Nonsense_Mutation_p.E1088*|PRDM15_ENST00000447207.2_Nonsense_Mutation_p.E1068*|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000269844.3_Nonsense_Mutation_p.E1434*|PRDM15_ENST00000398548.1_Nonsense_Mutation_p.E1105*			P57071	PRD15_HUMAN	PR domain containing 15	1434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTCGAGGCTTCCGGCTGGGGG	0.587													12	53					2.32078e-09	2.39901e-09	1	0	A	43221624	C	A	43221624	4	1	187	1	0	0	0	0	0	1	0	0	12536	864	30	2	227	2	PRDM15	21	43221624	Nonsense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	1496210	43221624	4908271	141	33179											
NIPSNAP1	8508	broad.mit.edu	37	chr22	29966459	29966459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagtgggcatccttccggGgatccactttgtgaacaaag	9	10	13	9	1	0	1	0	1	0	0	3	3	3	3	3	4	1	1	3	4	2	2			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr22:29966459G>A	ENST00000216121.7	-	2	415	c.161C>T	c.(160-162)cCc>cTc	p.P54L		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	54								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						ATCCTTCCGGGGATCCACTTT	0.542													5	24					0	0	0	0	A	29966459	G	A	29966459	3	1	187	1	0	0	0	0	1	0	0	0	10499	1232	43	4	729	4	NIPSNAP1	22	29966459	Missense_Mutation	SNP	G	TCGA-CR-6487-01A-11D-1870-08		29966459	21338107	142	33180											
EP300	2033	broad.mit.edu	37	chr22	41531855	41531855	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatggaggtgtaggagttCaaacgccgagtcttctttct	10	13	11	7	2	4	0	1	0	3	0	4	3	4	2	1	3	1	2	1	3	4	5			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr22:41531855C>T	ENST00000263253.7	+	7	2786	c.1567C>T	c.(1567-1569)Caa>Taa	p.Q523*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	523					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTAGGAGTTCAAACGCCGAG	0.373			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				12	46					0	0	0	0	T	41531855	C	T	41531855	4	4	187	1	0	0	0	0	0	1	0	0	5186	827	29	2	1593	2	EP300	22	41531855	Nonsense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	11565396	41531855	9772711	143	33181											
SCUBE1	80274	broad.mit.edu	37	chr22	43610219	43610219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catacatgacacacactggcCgagctcaccaccgaagtggg	12	5	10	14	2	1	1	1	1	0	0	1	3	1	1	3	2	2	1	3	2	2	1			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr22:43610219C>T	ENST00000360835.3	-	16	2056	c.1930G>A	c.(1930-1932)Ggc>Agc	p.G644S		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	644					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				ACACACTGGCCGAGCTCACCA	0.642													3	48					0	0	0	0	T	43610219	C	T	43610219	3	4	187	1	0	0	0	0	1	0	0	0	14031	652	23	1	1064	1	SCUBE1	22	43610219	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	2078364	43610219	7694347	144	33182											
SMC1A	8243	broad.mit.edu	37	chrX	53426517	53426517	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttccttccttacctttttGagcttttctatctcattttc	4	23	2	12	0	2	1	1	1	2	0	6	1	4	1	3	0	2	1	3	0	2	10			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chrX:53426517G>A	ENST00000322213.4	-	16	2683	c.2556C>T	c.(2554-2556)ctC>ctT	p.L852L		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	852					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTACCTTTTTGAGCTTTTCTA	0.363													13	28					0	0	0	0	A	53426517	G	A	53426517	2	1	187	1	0	0	0	0	0	0	0	1	14869	1277	45	2		2	SMC1A	23	53426517	Silent	SNP	G	TCGA-CR-6487-01A-11D-1870-08		53426517	101844043	145	33183											
WDR44	54521	broad.mit.edu	37	chrX	117527109	117527109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaaagaagcctgttccagCacgcccacctcctccaacta	12	7	5	17	1	0	1	0	0	0	1	3	1	3	1	6	0	4	2	6	0	5	3			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chrX:117527109C>T	ENST00000254029.3	+	4	1096	c.701C>T	c.(700-702)gCa>gTa	p.A234V	WDR44_ENST00000371822.5_Missense_Mutation_p.A209V|WDR44_ENST00000371825.3_Missense_Mutation_p.A234V|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	234	Pro-rich.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTGTTCCAGCACGCCCACCT	0.517													80	68					0	0	0	0	T	117527109	C	T	117527109	3	4	187	1	0	0	0	0	1	0	0	0	17392	710	25	4	715	4	WDR44	23	117527109	Missense_Mutation	SNP	C	TCGA-CR-6487-01A-11D-1870-08	64100592	117527109	37743451	146	33184											
AIFM1	9131	broad.mit.edu	37	chrX	129272623	129272623	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaagcccccaccgataatCgtaattgatttgacttcccg	11	10	8	12	3	0	2	0	2	0	0	2	4	1	3	4	1	1	1	4	1	3	5			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chrX:129272623C>T	ENST00000287295.3	-	9	1142	c.912G>A	c.(910-912)acG>acA	p.T304T	AIFM1_ENST00000319908.3_Silent_p.T300T|AIFM1_ENST00000535724.1_Silent_p.T217T|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	304	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CACCGATAATCGTAATTGATT	0.433													51	35					0	0	0	0	T	129272623	C	T	129272623	2	4	187	1	0	0	0	0	0	0	0	1	426	871	31	1		1	AIFM1	23	129272623	Silent	SNP	C	TCGA-CR-6487-01A-11D-1870-08	11745514	129272623	25997937	147	33185											
RLF	6018	broad.mit.edu	37	chr1	40703344	40703344	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcccaaaaagataaagacGaaagatctgtttccctcttt	16	10	6	9	1	2	3	0	0	2	3	3	4	3	3	2	0	1	1	2	0	6	3			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr1:40703344G>A	ENST00000372771.4	+	8	2997	c.2970G>A	c.(2968-2970)acG>acA	p.T990T		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	990					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGATAAAGACGAAAGATCTGT	0.408													12	55					0	0	0	0	A	40703344	G	A	40703344	2	1	188	1	0	0	0	0	0	0	0	1	13474	1045	37	1		1	RLF	1	40703344	Silent	SNP	G	TCGA-CR-6488-01A-12D-2078-08		40703344	208547277	1	33186											
HMCN1	83872	broad.mit.edu	37	chr1	186072800	186072800	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcgaatttctactgctcaGgtaagtgtcaaagttcatag	11	14	8	8	1	4	0	3	0	1	0	5	1	4	0	0	1	2	3	0	1	5	6			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr1:186072800G>A	ENST00000271588.4	+	69	10999	c.10770_splice	c.e69+1	p.Q3590_splice	HMCN1_ENST00000367492.2_Splice_Site_p.Q3590_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3590	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTACTGCTCAGGTAAGTGTCA	0.393													7	30					0	0	0	0	A	186072800	G	A	186072800	5	1	188	1	0	0	0	0	0	0	1	0	7270	1014	35	4	11044	4	HMCN1	1	186072800	Splice_Site	SNP	G	TCGA-CR-6488-01A-12D-2078-08	145369456	186072800	63177821	2	33187											
WNT10A	80326	broad.mit.edu	37	chr2	219755048	219755048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacagagacatccacgCgagaatgaggcttcacaaca	14	5	9	13	2	2	3	2	1	0	2	3	5	3	3	2	1	1	1	2	1	2	1			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr2:219755048C>T	ENST00000258411.3	+	3	1352	c.719C>T	c.(718-720)gCg>gTg	p.A240V		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	240					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACATCCACGCGAGAATGAGG	0.617													6	31					0	0	0	0	T	219755048	C	T	219755048	3	4	188	1	0	0	0	0	1	0	0	0	17478	768	27	1	729	1	WNT10A	2	219755048	Missense_Mutation	SNP	C	TCGA-CR-6488-01A-12D-2078-08		219755048	23444325	3	33188											
UGT1A7	54577	broad.mit.edu	37	chr2	234590879	234590879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgccgatgctcgctggaCggcaccattgcgaagtgcat	7	11	12	11	4	0	0	0	0	0	0	1	3	0	1	2	2	4	4	2	2	1	3			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr2:234590879C>T	ENST00000373426.3	+	1	296	c.296C>T	c.(295-297)aCg>aTg	p.T99M	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2												p.T99M(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCTCGCTGGACGGCACCATTG	0.418													6	105					0	0	0	0	T	234590879	C	T	234590879	3	4	188	1	0	0	0	0	1	0	0	0	17046	536	19	1	298	1	UGT1A7	2	234590879	Missense_Mutation	SNP	C	TCGA-CR-6488-01A-12D-2078-08	14835831	234590879	8608494	4	33189											
RBM5	10181	broad.mit.edu	37	chr3	50145726	50145726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggattggaatctgatgcatCatctgcatcaggtagtaaac	13	11	10	7	0	4	1	2	1	2	0	4	3	4	3	0	3	3	4	0	3	4	3			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr3:50145726C>T	ENST00000347869.3	+	14	1356	c.1181C>T	c.(1180-1182)tCa>tTa	p.S394L	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	394	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGATGCATCATCTGCATCA	0.373													9	49					0	0	0	0	T	50145726	C	T	50145726	3	4	188	1	0	0	0	0	1	0	0	0	13225	838	29	2	1231	2	RBM5	3	50145726	Missense_Mutation	SNP	C	TCGA-CR-6488-01A-12D-2078-08		50145726	147876704	5	33190											
ALPK1	80216	broad.mit.edu	37	chr4	113353310	113353310	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccctgcacaaatgggcaCggctctcatagactgtgcat	9	10	10	12	1	1	1	1	0	1	1	3	1	2	1	1	2	2	5	1	2	2	2			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr4:113353310C>T	ENST00000458497.1	+	11	2886	c.2607C>T	c.(2605-2607)caC>caT	p.H869H	ALPK1_ENST00000177648.9_Silent_p.H869H|ALPK1_ENST00000504176.2_Silent_p.H791H	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	869							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAAATGGGCACGGCTCTCATA	0.597													13	22					0	0	0	0	T	113353310	C	T	113353310	2	4	188	1	0	0	0	0	0	0	0	1	544	535	19	1		1	ALPK1	4	113353310	Silent	SNP	C	TCGA-CR-6488-01A-12D-2078-08		113353310	77800966	6	33191											
CCRN4L	25819	broad.mit.edu	37	chr4	139966007	139966007	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaccctggtcaccttgtctAgatgtagaacacaacaatgg	14	9	8	10	0	2	2	1	0	1	2	2	2	2	2	2	2	3	1	2	2	6	3			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr4:139966007A>C	ENST00000280614.2	+	3	868	c.675A>C	c.(673-675)ctA>ctC	p.L225L	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	225					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					CACCTTGTCTAGATGTAGAAC	0.463													26	51					0	0	0	0	C	139966007	A	C	139966007	2	2	188	1	0	0	0	0	0	0	0	1	2980	407	15	5		5	CCRN4L	4	139966007	Silent	SNP	A	TCGA-CR-6488-01A-12D-2078-08	26612697	139966007	51188269	7	33192											
C5orf49	134121	broad.mit.edu	37	chr5	7832094	7832094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatgggctgattgatgcGcttcccatagacagaagacg	11	9	11	10	2	1	5	1	2	0	3	2	5	2	5	1	1	1	2	1	1	3	3			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr5:7832094G>A	ENST00000399810.2	-	3	781	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	C5orf49_ENST00000509627.1_Missense_Mutation_p.R103C	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	105								p.R105C(1)		large_intestine(3)|lung(5)|skin(1)	9						TGATTGATGCGCTTCCCATAG	0.542													9	156					0	0	0	0	A	7832094	G	A	7832094	3	1	188	1	0	0	0	0	1	0	0	0	2328	1087	38	1	134	1	C5orf49	5	7832094	Missense_Mutation	SNP	G	TCGA-CR-6488-01A-12D-2078-08		7832094	173083166	8	33193											
EDIL3	10085	broad.mit.edu	37	chr5	83402601	83402601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtagaggaagctgtgatttGctggtttgatataattccac	11	14	11	5	0	0	3	0	2	0	1	1	4	1	4	1	2	2	4	1	2	4	6			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr5:83402601G>T	ENST00000296591.5	-	6	935	c.517C>A	c.(517-519)Caa>Aaa	p.Q173K	EDIL3_ENST00000380138.3_Missense_Mutation_p.Q163K	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	173	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCTGTGATTTGCTGGTTTGAT	0.393													17	105					6.94344e-10	8.55531e-10	1	0	T	83402601	G	T	83402601	3	4	188	1	0	0	0	0	1	0	0	0	4951	1328	46	4	949	4	EDIL3	5	83402601	Missense_Mutation	SNP	G	TCGA-CR-6488-01A-12D-2078-08	75570507	83402601	97512659	9	33194											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741082	140741082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacttcctacatggttcaCgtggcagagaacaatcctcc	11	9	8	13	1	1	2	1	0	0	2	4	3	4	2	3	2	2	2	3	2	3	3			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr5:140741082C>T	ENST00000522605.1	+	1	1380	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATGGTTCACGTGGCAGAGA	0.557													26	67					0	0	0	0	T	140741082	C	T	140741082	2	4	188	1	0	0	0	0	0	0	0	1	11634	535	19	1		1	PCDHGB2	5	140741082	Silent	SNP	C	TCGA-CR-6488-01A-12D-2078-08	57338481	140741082	40174178	10	33195											
KIAA0141	9812	broad.mit.edu	37	chr5	141316762	141316762	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtccattttctccttaGgactcacagagcaggtacca	9	12	8	12	0	3	1	1	0	2	1	5	2	4	2	3	2	2	2	3	2	2	4			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr5:141316762G>T	ENST00000432126.2	+	11	1283		c.e11-1		KIAA0141_ENST00000194118.4_Splice_Site	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141						apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTCCTTAGGACTCACAGA	0.498													14	86					1.3612e-06	1.59192e-06	1	0	T	141316762	G	T	141316762	5	4	188	1	0	0	0	0	0	0	1	0	8207	1014	35	4	1191	4	KIAA0141	5	141316762	Splice_Site	SNP	G	TCGA-CR-6488-01A-12D-2078-08	575680	141316762	39598498	11	33196											
FOXP4	116113	broad.mit.edu	37	chr6	41566645	41566645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggaagacagggacctggagGaggagctgccgggagaagaa	13	2	19	7	2	0	3	0	0	0	3	0	9	0	8	2	6	2	1	2	6	3	0			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr6:41566645G>A	ENST00000373060.1	+	17	2472	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	FOXP4_ENST00000307972.4_Missense_Mutation_p.E672K|FOXP4_ENST00000373057.3_Missense_Mutation_p.E670K|FOXP4_ENST00000373063.3_Missense_Mutation_p.E659K|FOXP4_ENST00000409208.1_Missense_Mutation_p.E660K	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	672					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GGACCTGGAGGAGGAGCTGCC	0.687													5	14					0	0	0	0	A	41566645	G	A	41566645	3	1	188	1	0	0	0	0	1	0	0	0	6076	1175	41	2	2076	2	FOXP4	6	41566645	Missense_Mutation	SNP	G	TCGA-CR-6488-01A-12D-2078-08		41566645	129548422	12	33197											
CD109	135228	broad.mit.edu	37	chr6	74440235	74440235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaagcaagaagtgaagtttCgcattgttacactcttctca	13	12	7	9	1	2	2	1	1	2	1	4	2	2	2	0	0	2	4	0	0	5	4	rs137899447	by1000genomes	TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr6:74440235C>T	ENST00000437994.2	+	4	876	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	CD109_ENST00000287097.5_Missense_Mutation_p.R149C|CD109_ENST00000422508.2_Intron	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	149						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.R149C(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTGAAGTTTCGCATTGTTAC	0.373													3	35					0	0	0	0	T	74440235	C	T	74440235	3	4	188	1	0	0	0	0	1	0	0	0	2992	884	31	1	459	1	CD109	6	74440235	Missense_Mutation	SNP	C	TCGA-CR-6488-01A-12D-2078-08	32873590	74440235	96674832	13	33198											
TIAM2	26230	broad.mit.edu	37	chr6	155458480	155458480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattggcagcgatcccctccGgcagaacatttatgagaatt	11	10	10	10	2	0	2	0	1	0	2	2	5	2	2	3	2	2	2	3	2	3	4			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr6:155458480G>A	ENST00000461783.3	+	7	2637	c.1364G>A	c.(1363-1365)cGg>cAg	p.R455Q	TIAM2_ENST00000529824.2_Missense_Mutation_p.R455Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.R455Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.R455Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.R455Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	455					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GATCCCCTCCGGCAGAACATT	0.512													5	91					0	0	0	0	A	155458480	G	A	155458480	3	1	188	1	0	0	0	0	1	0	0	0	15985	1116	39	1	1370	1	TIAM2	6	155458480	Missense_Mutation	SNP	G	TCGA-CR-6488-01A-12D-2078-08	81018245	155458480	15656587	14	33199											
DDX56	54606	broad.mit.edu	37	chr7	44612540	44612540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggccactcggacatccCgagcacagtaggtagccagc	10	6	11	14	2	0	0	0	0	0	0	2	2	1	1	3	3	3	3	3	3	2	3			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr7:44612540C>T	ENST00000258772.5	-	3	438	c.332G>A	c.(331-333)cGg>cAg	p.R111Q	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R111Q	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	111	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TCGGACATCCCGAGCACAGTA	0.527													38	82					0	0	0	0	T	44612540	C	T	44612540	3	4	188	1	0	0	0	0	1	0	0	0	4406	652	23	1	1359	1	DDX56	7	44612540	Missense_Mutation	SNP	C	TCGA-CR-6488-01A-12D-2078-08		44612540	114526123	15	33200											
POM121L12	285877	broad.mit.edu	37	chr7	53103492	53103492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagcacgccccagaccaCgccatctccccagggtcgcc	8	3	8	22	3	1	1	0	0	1	1	3	1	1	1	8	1	1	1	8	1	0	0			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr7:53103492C>T	ENST00000408890.4	+	1	144	c.128C>T	c.(127-129)aCg>aTg	p.T43M		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	43								p.T43M(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCAGACCACGCCATCTCCC	0.682													4	39					0	0	0	0	T	53103492	C	T	53103492	3	4	188	1	0	0	0	0	1	0	0	0	12313	536	19	1	130	1	POM121L12	7	53103492	Missense_Mutation	SNP	C	TCGA-CR-6488-01A-12D-2078-08	8490952	53103492	106035171	16	33201											
IQUB	154865	broad.mit.edu	37	chr7	123101543	123101543	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggttaatgcagttacgAcaccggtatatgcggcgtga	11	10	13	7	4	0	2	0	2	0	0	0	3	0	2	1	3	3	4	1	3	5	4			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr7:123101543A>T	ENST00000466202.1	-	11	2451	c.1875T>A	c.(1873-1875)tgT>tgA	p.C625*	IQUB_ENST00000324698.6_Nonsense_Mutation_p.C625*			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	625										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGCAGTTACGACACCGGTATA	0.368													7	40					0	0	0	0	T	123101543	A	T	123101543	4	4	188	1	0	0	0	0	0	1	0	0	7873	273	10	5	512	5	IQUB	7	123101543	Nonsense_Mutation	SNP	A	TCGA-CR-6488-01A-12D-2078-08	69998051	123101543	36037120	17	33202											
HIF1AN	55662	broad.mit.edu	37	chr10	102296171	102296171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgttgttttcatttaggagCctgtggtgctgaccgacaca	7	14	11	9	1	1	1	1	1	0	0	1	3	1	2	2	2	2	3	2	2	1	5			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr10:102296171C>A	ENST00000299163.5	+	2	281	c.181C>A	c.(181-183)Cct>Act	p.P61T	HIF1AN_ENST00000528044.1_3'UTR	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	61	Interaction with VHL.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CATTTAGGAGCCTGTGGTGCT	0.458													22	104					1.50039e-11	1.88231e-11	1	0	A	102296171	C	A	102296171	3	1	188	1	0	0	0	0	1	0	0	0	7154	739	26	4	187	4	HIF1AN	10	102296171	Missense_Mutation	SNP	C	TCGA-CR-6488-01A-12D-2078-08		102296171	33238576	18	33203											
LBX1	10660	broad.mit.edu	37	chr10	102987175	102987175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggggggaggaccggagagCcgggcctcgacttggccctg	5	5	19	12	3	0	1	0	0	0	1	1	5	0	3	4	7	1	0	4	7	0	1			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr10:102987175C>T	ENST00000370193.2	-	2	1676	c.698G>A	c.(697-699)gGc>gAc	p.G233D		NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	233					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		GACCGGAGAGCCGGGCCTCGA	0.756													6	21					0	0	0	0	T	102987175	C	T	102987175	3	4	188	1	0	0	0	0	1	0	0	0	8706	739	26	4	151	4	LBX1	10	102987175	Missense_Mutation	SNP	C	TCGA-CR-6488-01A-12D-2078-08	691004	102987175	32547572	19	33204											
ART5	116969	broad.mit.edu	37	chr11	3661085	3661085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcattaccaaatctgtGggccactgccttatccaggg	8	10	12	11	0	1	0	0	0	1	0	2	0	2	0	4	4	2	1	4	4	3	2			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr11:3661085G>T	ENST00000397068.3	-	2	966	c.574C>A	c.(574-576)Cac>Aac	p.H192N	ART5_ENST00000397067.3_Missense_Mutation_p.H192N|ART5_ENST00000359918.4_Missense_Mutation_p.H192N	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	192						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAAATCTGTGGGCCACTGCC	0.572													7	39					1.06961e-07	1.29479e-07	1	0	T	3661085	G	T	3661085	3	4	188	1	0	0	0	0	1	0	0	0	1004	1348	47	4	313	4	ART5	11	3661085	Missense_Mutation	SNP	G	TCGA-CR-6488-01A-12D-2078-08		3661085	131345431	20	33205											
CYB5R2	51700	broad.mit.edu	37	chr11	7689764	7689764	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtttttttaggctcactCgtctggtctggtctgattcc	4	18	10	9	1	4	1	1	1	3	0	6	1	5	1	1	3	0	2	1	3	1	5			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr11:7689764C>A	ENST00000533558.1	-	6	973	c.417G>T	c.(415-417)acG>acT	p.T139T	CYB5R2_ENST00000299497.9_Silent_p.T139T|CYB5R2_ENST00000299498.6_Silent_p.T139T|CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000524790.1_Silent_p.T139T			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	139					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGGCTCACTCGTCTGGTCTG	0.507													27	104					9.65021e-13	1.23308e-12	1	0	A	7689764	C	A	7689764	2	1	188	1	0	0	0	0	0	0	0	1	4159	871	31	3		3	CYB5R2	11	7689764	Silent	SNP	C	TCGA-CR-6488-01A-12D-2078-08	4028679	7689764	127316752	21	33206											
RASGRP2	10235	broad.mit.edu	37	chr11	64508502	64508502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagctccttgatctgctcagCcaactccgggttcaagtcaa	9	10	8	14	1	4	1	3	1	1	0	6	1	6	1	3	1	4	3	3	1	3	2			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr11:64508502C>T	ENST00000377494.1	-	4	1211	c.289G>A	c.(289-291)Gct>Act	p.A97T	RASGRP2_ENST00000394432.3_Missense_Mutation_p.A97T|RASGRP2_ENST00000377497.3_Missense_Mutation_p.A97T|RASGRP2_ENST00000354024.3_Missense_Mutation_p.A97T|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000394430.1_Missense_Mutation_p.A97T|RASGRP2_ENST00000377486.3_Missense_Mutation_p.A97T|RASGRP2_ENST00000377489.1_Missense_Mutation_p.A97T|RASGRP2_ENST00000377487.1_Missense_Mutation_p.A97T			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	97	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCTGCTCAGCCAACTCCGGG	0.597											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	35					0	0	0	0	T	64508502	C	T	64508502	3	4	188	1	0	0	0	0	1	0	0	0	13157	739	26	4	1588	4	RASGRP2	11	64508502	Missense_Mutation	SNP	C	TCGA-CR-6488-01A-12D-2078-08	56818738	64508502	70498014	22	33207											
KLRC2	3822	broad.mit.edu	37	chr12	10584759	10584759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggatgatgactgctgttaCgaaacacaccaatccatgag	14	9	9	9	1	0	3	0	3	0	0	1	5	1	4	2	1	3	2	2	1	3	1			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr12:10584759C>A	ENST00000381902.2	-	5	536	c.530G>T	c.(529-531)cGt>cTt	p.R177L	KLRC2_ENST00000536833.2_Missense_Mutation_p.R118L|NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.R177L	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	177	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACTGCTGTTACGAAACACACC	0.294													11	26					2.48551e-13	3.23585e-13	1	0	A	10584759	C	A	10584759	3	1	188	1	0	0	0	0	1	0	0	0	8468	536	19	3	173	3	KLRC2	12	10584759	Missense_Mutation	SNP	C	TCGA-CR-6488-01A-12D-2078-08		10584759	123267136	23	33208											
HIST4H4	121504	broad.mit.edu	37	chr12	14923918	14923918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggcgagacggcgaatcGccggctttgtaatgccttgg	6	9	16	10	6	0	1	0	0	0	1	2	3	0	1	2	4	1	2	2	4	2	3			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr12:14923918G>A	ENST00000539745.1	-	1	147	c.101C>T	c.(100-102)gCg>gTg	p.A34V		NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	34					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						ACGGCGAATCGCCGGCTTTGT	0.607											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	52					0	0	0	0	A	14923918	G	A	14923918	3	1	188	1	0	0	0	0	1	0	0	0	7235	1087	38	1	214	1	HIST4H4	12	14923918	Missense_Mutation	SNP	G	TCGA-CR-6488-01A-12D-2078-08	4339159	14923918	118927977	24	33209											
OR4M1	441670	broad.mit.edu	37	chr14	20249043	20249043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacaggttgtccggattGcctgtgccaacaccttccca	8	10	8	15	1	1	0	1	0	0	0	3	1	3	1	5	2	3	1	5	2	1	3			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr14:20249043G>T	ENST00000315957.4	+	1	643	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTCCGGATTGCCTGTGCCAA	0.458													21	268					1.64293e-13	2.18005e-13	1	0	T	20249043	G	T	20249043	3	4	188	1	0	0	0	0	1	0	0	0	11146	1319	46	4	564	4	OR4M1	14	20249043	Missense_Mutation	SNP	G	TCGA-CR-6488-01A-12D-2078-08		20249043	87100497	25	33210											
OCA2	4948	broad.mit.edu	37	chr15	28230313	28230313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatcatggcccacacccGtccccgggagagccggtatg	8	6	13	14	3	1	2	1	1	0	1	2	4	2	2	5	3	1	1	5	3	1	1			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr15:28230313G>A	ENST00000354638.3	-	13	1416	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	OCA2_ENST00000382996.2_Missense_Mutation_p.R421W|OCA2_ENST00000353809.5_Missense_Mutation_p.R397W	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	421					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.R421W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCCCACACCCGTCCCCGGGAG	0.572									Oculocutaneous Albinism				4	11					0	0	0	0	A	28230313	G	A	28230313	3	1	188	1	0	0	0	0	1	0	0	0	10886	1144	40	1	1303	1	OCA2	15	28230313	Missense_Mutation	SNP	G	TCGA-CR-6488-01A-12D-2078-08		28230313	74301079	26	33211											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059020	79059021	+	Frame_Shift_Ins	INS	-	-	A																															gggctcctcagagggcccgtINSaggacagatcctcgtggaaa																										TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr15:79059020_79059021insA	ENST00000388820.4	-	19	3442_3443	c.3232_3233insT	c.(3232-3234)cggfs	p.R1078fs		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1078					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGAGGGCCCGTAGGACAGATCC	0.624													9	35	---	---	---	---					A	79059021	-	A	79059020	7	5	188	1	0	1	1	0	0	0	0	0	271	1638	57	0	1851	0	ADAMTS7	15	79059020	Frame_Shift_Ins	INS	-	TCGA-CR-6488-01A-12D-2078-08	50828707	79059020	23472372	27	33212											
SEZ6L2	26470	broad.mit.edu	37	chr16	29891363	29891363	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatgtgccaggaagggggcGaagcagcgatcctcctcaaa	11	5	13	12	2	1	0	1	0	0	0	3	3	3	1	4	3	3	1	4	3	3	0	rs112977823		TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr16:29891363G>A	ENST00000308713.5	-	9	1922	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	SEZ6L2_ENST00000537485.1_Silent_p.F421F|SEZ6L2_ENST00000350527.3_Silent_p.F395F|SEZ6L2_ENST00000346932.5_Silent_p.F351F	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	465	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAAGGGGGCGAAGCAGCGAT	0.547													10	29					0	0	0	0	A	29891363	G	A	29891363	2	1	188	1	0	0	0	0	0	0	0	1	14231	1049	37	1		1	SEZ6L2	16	29891363	Silent	SNP	G	TCGA-CR-6488-01A-12D-2078-08		29891363	60463390	28	33213											
DDX19A	55308	broad.mit.edu	37	chr16	70404240	70404240	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggtgattgagcgcttcCgagagggcaaagagaaggtt	10	8	16	7	3	0	4	0	2	0	2	1	6	1	4	1	3	2	3	1	3	2	3			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr16:70404240C>T	ENST00000302243.7	+	10	1298	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	DDX19A_ENST00000417604.2_Nonsense_Mutation_p.R348*|DDX19A_ENST00000443119.2_Nonsense_Mutation_p.R289*	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TGAGCGCTTCCGAGAGGGCAA	0.622													3	29					0	0	0	0	T	70404240	C	T	70404240	4	4	188	1	0	0	0	0	0	1	0	0	4378	644	23	1	1173	1	DDX19A	16	70404240	Nonsense_Mutation	SNP	C	TCGA-CR-6488-01A-12D-2078-08	40512877	70404240	19950513	29	33214											
GGNBP2	79893	broad.mit.edu	37	chr17	34935802	34935802	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagaagagcagacatggCagatgcttttctatcttggt	10	11	13	7	0	2	4	0	0	2	4	2	4	2	4	0	3	2	4	0	3	2	4			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr17:34935802C>T	ENST00000304718.4	+	8	1289	c.973C>T	c.(973-975)Cag>Tag	p.Q325*		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	325					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GCAGACATGGCAGATGCTTTT	0.433													7	120					0	0	0	0	T	34935802	C	T	34935802	4	4	188	1	0	0	0	0	0	1	0	0	6410	711	25	4	999	4	GGNBP2	17	34935802	Nonsense_Mutation	SNP	C	TCGA-CR-6488-01A-12D-2078-08		34935802	46259408	30	33215											
CWC25	54883	broad.mit.edu	37	chr17	36963178	36963178	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcccatgccctctcttttGctctgctgtcagaggaccct	5	13	7	16	0	3	1	1	0	2	1	5	2	4	2	3	1	3	2	3	1	0	2			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr17:36963178G>C	ENST00000225428.4	-	7	1039	c.742C>G	c.(742-744)Caa>Gaa	p.Q248E	CWC25_ENST00000536127.1_Missense_Mutation_p.Q185E	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	248										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CCTCTCTTTTGCTCTGCTGTC	0.507													13	57					0	0	0	0	C	36963178	G	C	36963178	3	2	188	1	0	0	0	0	1	0	0	0	4101	1328	46	4	551	4	CWC25	17	36963178	Missense_Mutation	SNP	G	TCGA-CR-6488-01A-12D-2078-08	2027376	36963178	44232032	31	33216											
GRN	2896	broad.mit.edu	37	chr17	42430078	42430078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctgctggcttccgctGcgcagccaggggtaccaagt	5	9	13	14	2	0	0	0	0	0	0	2	0	2	0	4	3	4	5	4	3	2	2			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr17:42430078G>T	ENST00000053867.3	+	13	1756	c.1694G>T	c.(1693-1695)tGc>tTc	p.C565F	GRN_ENST00000589265.1_Missense_Mutation_p.C408F	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	565					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGCTTCCGCTGCGCAGCCAGG	0.667													10	62					7.48243e-07	8.90151e-07	1	0	T	42430078	G	T	42430078	3	4	188	1	0	0	0	0	1	0	0	0	6854	1319	46	4	1740	4	GRN	17	42430078	Missense_Mutation	SNP	G	TCGA-CR-6488-01A-12D-2078-08	5466900	42430078	38765132	32	33217											
ABCA8	10351	broad.mit.edu	37	chr17	66883568	66883568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgaagaccaagaagtacaggGaaacatccaccagcgcctgc	15	3	10	13	2	0	2	0	0	0	2	1	4	1	3	4	1	4	1	4	1	5	1			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr17:66883568G>A	ENST00000269080.2	-	23	3241	c.3104C>T	c.(3103-3105)tCc>tTc	p.S1035F	ABCA8_ENST00000586539.1_Missense_Mutation_p.S1075F|ABCA8_ENST00000430352.2_Missense_Mutation_p.S1075F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1035						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAAGTACAGGGAAACATCCAC	0.418													11	104					0	0	0	0	A	66883568	G	A	66883568	3	1	188	1	0	0	0	0	1	0	0	0	38	1174	41	2	1705	2	ABCA8	17	66883568	Missense_Mutation	SNP	G	TCGA-CR-6488-01A-12D-2078-08	24453490	66883568	14311642	33	33218											
LPIN2	9663	broad.mit.edu	37	chr18	2923796	2923796	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatggaatggtagagcttTgctataccctggtgggtcca	8	13	13	7	0	0	2	0	1	0	1	1	3	1	3	2	4	3	3	2	4	4	5			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr18:2923796T>A	ENST00000261596.4	-	16	2389	c.2151A>T	c.(2149-2151)gcA>gcT	p.A717A		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	717	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGTAGAGCTTTGCTATACCCT	0.478													21	81					0	0	0	0	A	2923796	T	A	2923796	2	1	188	1	0	0	0	0	0	0	0	1	8983	1799	63	5		5	LPIN2	18	2923796	Silent	SNP	T	TCGA-CR-6488-01A-12D-2078-08		2923796	75153452	34	33219											
RFX2	5990	broad.mit.edu	37	chr19	6004277	6004277	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccagccttccaagctctTggcaaagttacggatggcct	10	9	9	13	1	1	0	0	0	1	0	2	1	2	1	4	3	4	3	4	3	4	3			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr19:6004277T>A	ENST00000303657.5	-	13	1584	c.1435A>T	c.(1435-1437)Aag>Tag	p.K479*	RFX2_ENST00000359161.3_Nonsense_Mutation_p.K479*|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Nonsense_Mutation_p.K454*	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCCAAGCTCTTGGCAAAGTTA	0.547													29	101					0	0	0	0	A	6004277	T	A	6004277	4	1	188	1	0	0	0	0	0	1	0	0	13345	1821	63	5	760	5	RFX2	19	6004277	Nonsense_Mutation	SNP	T	TCGA-CR-6488-01A-12D-2078-08		6004277	53124706	35	33220											
CILP2	148113	broad.mit.edu	37	chr19	19655208	19655208	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgagacctcacctcggcGgcgtctgcccccagtgacct	5	6	10	20	4	2	2	1	1	1	1	3	3	2	2	7	2	1	0	7	2	0	0			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr19:19655208G>A	ENST00000586018.1	+	8	1974	c.1872G>A	c.(1870-1872)gcG>gcA	p.A624A	CILP2_ENST00000291495.4_Silent_p.A618A			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	618						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TCACCTCGGCGGCGTCTGCCC	0.697													7	118					0	0	0	0	A	19655208	G	A	19655208	2	1	188	1	0	0	0	0	0	0	0	1	3459	1103	39	1		1	CILP2	19	19655208	Silent	SNP	G	TCGA-CR-6488-01A-12D-2078-08	13650931	19655208	39473775	36	33221											
SOX18	54345	broad.mit.edu	37	chr20	62680604	62680604	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaccatgaaggcgttcAtgggccgccggatgcgcgac	8	5	13	15	5	1	1	1	1	0	0	1	3	1	2	4	3	1	1	4	3	1	1			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr20:62680604A>C	ENST00000340356.7	-	1	390	c.266T>G	c.(265-267)aTg>aGg	p.M89R		NM_018419.2	NP_060889.1	P35713	SOX18_HUMAN	SRY (sex determining region Y)-box 18	89					angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding			lung(3)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GAAGGCGTTCATGGGCCGCCG	0.721													16	30					0	0	0	0	C	62680604	A	C	62680604	3	2	188	1	0	0	0	0	1	0	0	0	15036	217	8	5	896	5	SOX18	20	62680604	Missense_Mutation	SNP	A	TCGA-CR-6488-01A-12D-2078-08		62680604	344916	37	33222											
IL17RA	23765	broad.mit.edu	37	chr22	17578691	17578691	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctggctgccaggtacCtgcctggatgacagctggat	6	11	12	12	0	0	1	0	1	0	0	1	3	1	3	4	4	4	3	4	4	1	2			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr22:17578691C>T	ENST00000319363.6	+	3	301	c.168C>T	c.(166-168)acC>acT	p.T56T	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	56					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TGCCAGGTACCTGCCTGGATG	0.567													9	38					0	0	0	0	T	17578691	C	T	17578691	2	4	188	1	0	0	0	0	0	0	0	1	7692	668	24	4		4	IL17RA	22	17578691	Silent	SNP	C	TCGA-CR-6488-01A-12D-2078-08		17578691	33725875	38	33223											
PHKA2	5256	broad.mit.edu	37	chrX	18972425	18972425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgcggtctgcattcttacGgtaggccatgcccaggcccc	6	9	11	15	3	2	0	0	0	2	0	3	0	2	0	4	4	3	2	4	4	2	3			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chrX:18972425G>A	ENST00000379942.4	-	2	849	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	62					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCATTCTTACGGTAGGCCATG	0.597													19	77					0	0	0	0	A	18972425	G	A	18972425	3	1	188	1	0	0	0	0	1	0	0	0	11916	1116	39	1	3651	1	PHKA2	23	18972425	Missense_Mutation	SNP	G	TCGA-CR-6488-01A-12D-2078-08		18972425	136298135	39	33224											
MAGEB18	286514	broad.mit.edu	37	chrX	26157441	26157441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaacaagaaagtagtgtcGctggtgcatttcttgcttca	11	14	9	7	1	2	1	1	0	1	1	3	1	2	1	0	1	3	4	0	1	5	5			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chrX:26157441G>A	ENST00000325250.1	+	2	526	c.339G>A	c.(337-339)tcG>tcA	p.S113S		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	113	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAGTAGTGTCGCTGGTGCATT	0.413													8	11					0	0	0	0	A	26157441	G	A	26157441	2	1	188	1	0	0	0	0	0	0	0	1	9244	1074	38	1		1	MAGEB18	23	26157441	Silent	SNP	G	TCGA-CR-6488-01A-12D-2078-08	7185016	26157441	129113119	40	33225											
CXorf22	170063	broad.mit.edu	37	chrX	35974175	35974175	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcttaattttaaaccttgTttcatgggtgaacgttcaga	10	17	8	6	1	3	2	2	1	1	1	3	2	3	2	1	1	2	3	1	1	4	7			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chrX:35974175T>G	ENST00000297866.5	+	8	1338	c.1272T>G	c.(1270-1272)tgT>tgG	p.C424W		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	424										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTAAACCTTGTTTCATGGGTG	0.368													10	104					0	0	0	0	G	35974175	T	G	35974175	3	3	188	1	0	0	0	0	1	0	0	0	4134	1731	60	5	1302	5	CXorf22	23	35974175	Missense_Mutation	SNP	T	TCGA-CR-6488-01A-12D-2078-08	9816734	35974175	119296385	41	33226											
HEPH	9843	broad.mit.edu	37	chrX	65413378	65413378	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccagaagagctccagcCgaattgggggcacttactgg	9	10	12	10	1	0	2	0	0	0	2	2	3	2	2	3	3	3	2	3	3	3	4			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chrX:65413378C>T	ENST00000519389.1	+	8	1608	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*	HEPH_ENST00000419594.1_Nonsense_Mutation_p.R426*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.R156*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.R426*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.R423*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.R426*			Q9BQS7	HEPH_HUMAN	hephaestin	423	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GAGCTCCAGCCGAATTGGGGG	0.393													9	17					0	0	0	0	T	65413378	C	T	65413378	4	4	188	1	0	0	0	0	0	1	0	0	7104	644	23	1	1459	1	HEPH	23	65413378	Nonsense_Mutation	SNP	C	TCGA-CR-6488-01A-12D-2078-08	29439203	65413378	89857182	42	33227											
GPR153	387509	broad.mit.edu	37	chr1	6314150	6314150	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggccgacaggatgaaGgacaccatccagatacccat	13	4	12	12	1	0	2	0	1	0	1	1	5	1	4	4	4	1	1	4	4	2	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:6314150G>A	ENST00000377893.2	-	3	673	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	138						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ACAGGATGAAGGACACCATCC	0.622													28	56					0	0	0	0	A	6314150	G	A	6314150	2	1	189	1	0	0	0	0	0	0	0	1	6708	987	35	4		4	GPR153	1	6314150	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08		6314150	242936471	1	33228											
ZBTB48	3104	broad.mit.edu	37	chr1	6646822	6646822	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcgggtgcacatggtgtCtcacacaggggagatgccct	7	8	15	11	1	1	1	1	0	1	1	2	2	1	1	1	4	3	2	1	4	0	0			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:6646822C>G	ENST00000377674.4	+	5	1270	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	371						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CACATGGTGTCTCACACAGGG	0.632													5	16					0	0	0	0	G	6646822	C	G	6646822	3	3	189	1	0	0	0	0	1	0	0	0	17644	913	32	2	1126	2	ZBTB48	1	6646822	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	332672	6646822	242603799	2	33229											
MFN2	9927	broad.mit.edu	37	chr1	12062113	12062113	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcagattgcagaggcGgttcgactcatcatggactc	10	8	12	11	2	2	2	2	0	0	2	4	4	2	3	1	3	2	3	1	3	1	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:12062113G>A	ENST00000235329.5	+	11	1435	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A	MFN2_ENST00000444836.1_Silent_p.A371A	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	371					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTGCAGAGGCGGTTCGACTCA	0.587													39	72					0	0	0	0	A	12062113	G	A	12062113	2	1	189	1	0	0	0	0	0	0	0	1	9593	1103	39	1		1	MFN2	1	12062113	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	5415291	12062113	237188508	3	33230											
UBR4	23352	broad.mit.edu	37	chr1	19447699	19447699	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaccatctttctccttttcTttttcttctttcttgctctt	2	26	1	12	0	7	0	0	0	7	0	8	0	7	0	2	0	2	1	2	0	1	10			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:19447699T>A	ENST00000375267.2	-	68	10128	c.10125A>T	c.(10123-10125)aaA>aaT	p.K3375N	UBR4_ENST00000375254.3_Missense_Mutation_p.K3375N|UBR4_ENST00000375226.2_Missense_Mutation_p.K3351N|UBR4_ENST00000375217.2_Missense_Mutation_p.K3368N			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3375					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTCCTTTTCTTTTTCTTCTT	0.453													32	92					0	0	0	0	A	19447699	T	A	19447699	3	1	189	1	0	0	0	0	1	0	0	0	17000	1606	56	5	5582	5	UBR4	1	19447699	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	7385586	19447699	229802922	4	33231											
PINK1	65018	broad.mit.edu	37	chr1	20971032	20971032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcaccccaacatcatcCgggttctccgcgccttcacc	6	8	5	22	3	4	0	3	0	1	0	6	0	5	0	8	1	1	1	8	1	1	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:20971032C>T	ENST00000321556.4	+	4	920	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	276	Protein kinase.		R -> Q.		cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAACATCATCCGGGTTCTCCG	0.592													8	126					0	0	0	0	T	20971032	C	T	20971032	3	4	189	1	0	0	0	0	1	0	0	0	12004	643	23	1	840	1	PINK1	1	20971032	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	1523333	20971032	228279589	5	33232											
ASAP3	55616	broad.mit.edu	37	chr1	23760810	23760810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgggctggttgtagagtgCtgcgtagtgcagagccgtgt	5	11	18	7	3	0	2	0	0	0	2	1	2	0	2	1	2	4	6	1	2	2	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:23760810C>T	ENST00000336689.3	-	19	1932	c.1888G>A	c.(1888-1890)Gca>Aca	p.A630T	ASAP3_ENST00000495646.1_Missense_Mutation_p.A134T|ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Missense_Mutation_p.A621T	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	630					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TTGTAGAGTGCTGCGTAGTGC	0.577													3	88					0	0	0	0	T	23760810	C	T	23760810	3	4	189	1	0	0	0	0	1	0	0	0	1016	797	28	4	851	4	ASAP3	1	23760810	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	2789778	23760810	225489811	6	33233											
MACF1	23499	broad.mit.edu	37	chr1	39920720	39920720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcagcgggatcaggagcCaatcccgcagaacattgacc	12	6	10	13	2	2	2	2	1	0	1	3	4	3	4	3	2	3	1	3	2	2	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:39920720C>A	ENST00000564288.1	+	89	21803	c.21026C>A	c.(21025-21027)cCa>cAa	p.P7009Q	MACF1_ENST00000545844.1_Missense_Mutation_p.P4950Q|MACF1_ENST00000372915.3_Missense_Mutation_p.P6908Q|MACF1_ENST00000317713.7_Missense_Mutation_p.P4950Q|MACF1_ENST00000289893.4_Missense_Mutation_p.P5452Q|MACF1_ENST00000361689.2_Missense_Mutation_p.P4950Q|MACF1_ENST00000567887.1_Missense_Mutation_p.P7046Q|MACF1_ENST00000539005.1_Missense_Mutation_p.P4820Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6908					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATCAGGAGCCAATCCCGCAG	0.527													24	35					7.92952e-12	9.10588e-12	1	0	A	39920720	C	A	39920720	3	1	189	1	0	0	0	0	1	0	0	0	9209	594	21	4	21338	4	MACF1	1	39920720	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	16159910	39920720	209329901	7	33234											
KLF17	128209	broad.mit.edu	37	chr1	44595384	44595384	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagggtagccaggcccttCggtgggaatctaaggatgcc	9	7	14	11	1	1	0	0	0	1	0	2	2	1	2	4	5	2	1	4	5	4	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:44595384C>T	ENST00000372299.3	+	2	499	c.441C>T	c.(439-441)ttC>ttT	p.F147F	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	147					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCAGGCCCTTCGGTGGGAATC	0.562													5	50					0	0	0	0	T	44595384	C	T	44595384	2	4	189	1	0	0	0	0	0	0	0	1	8397	883	31	1		1	KLF17	1	44595384	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08	4674664	44595384	204655237	8	33235											
NFIA	4774	broad.mit.edu	37	chr1	61920976	61920976	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttttccttttgtcttccagtCctggtacctgggataaaagt	7	17	8	9	0	1	0	0	0	1	0	4	1	4	1	4	2	1	1	4	2	3	7			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:61920976C>T	ENST00000403491.3	+	11	1998	c.1512_splice	c.e11-1	p.S505_splice	NFIA_ENST00000371184.2_Splice_Site_p.S376_splice|NFIA_ENST00000371185.2_Splice_Site_p.S483_splice|NFIA_ENST00000371187.3_Splice_Site_p.I474_splice|NFIA_ENST00000371189.4_Splice_Site_p.S550_splice|NFIA_ENST00000485903.2_Splice_Site_p.S462_splice|NFIA_ENST00000407417.3_Splice_Site_p.S497_splice|NFIA_ENST00000371191.1_Splice_Site_p.S528_splice|NFIA_ENST00000357977.5_Splice_Site_p.S153_splice	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	505					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GTCTTCCAGTCCTGGTACCTG	0.448													4	81					0	0	0	0	T	61920976	C	T	61920976	5	4	189	1	0	0	0	0	0	0	1	0	10440	869	30	2	1702	2	NFIA	1	61920976	Splice_Site	SNP	C	TCGA-CR-6491-01A-11D-1870-08	17325592	61920976	187329645	9	33236											
C1orf173	127254	broad.mit.edu	37	chr1	75072531	75072531	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttctcagtgctcttttCtttcctagatttcggcaaag	6	18	6	11	1	3	1	1	0	3	1	7	1	5	1	2	1	1	2	2	1	2	6			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:75072531C>A	ENST00000326665.5	-	10	1461	c.1243G>T	c.(1243-1245)Gaa>Taa	p.E415*	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Nonsense_Mutation_p.E218*	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	415	Glu-rich.									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						GTGCTCTTTTCTTTCCTAGAT	0.403													6	132					0.000157383	0.000168683	1	0	A	75072531	C	A	75072531	4	1	189	1	0	0	0	0	0	1	0	0	2033	922	32	2	3369	2	C1orf173	1	75072531	Nonsense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	13151555	75072531	174178090	10	33237											
CRABP2	1382	broad.mit.edu	37	chr1	156670775	156670775	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtagaaagtgtctcccTcctgtttgatctccactgct	7	15	8	11	0	2	3	0	2	2	1	5	3	3	3	3	0	1	3	3	0	2	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:156670775T>A	ENST00000368222.3	-	2	294	c.140A>T	c.(139-141)gAg>gTg	p.E47V	CRABP2_ENST00000368221.1_Missense_Mutation_p.E47V	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	47					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	AGTGTCTCCCTCCTGTTTGAT	0.537													28	37					0	0	0	0	A	156670775	T	A	156670775	3	1	189	1	0	0	0	0	1	0	0	0	3874	1551	54	5	288	5	CRABP2	1	156670775	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	81598244	156670775	92579846	11	33238											
COPA	1314	broad.mit.edu	37	chr1	160312934	160312934	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactacctttgacccgcgcGctcttggtctcgaatttggt	5	13	9	14	4	2	1	0	1	2	0	3	2	2	1	3	2	1	1	3	2	2	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:160312934G>A	ENST00000241704.7	-	1	256	c.27C>T	c.(25-27)agC>agT	p.S9S	COPA_ENST00000368069.3_Silent_p.S9S	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	9					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGACCCGCGCGCTCTTGGTCT	0.567													12	249					0	0	0	0	A	160312934	G	A	160312934	2	1	189	1	0	0	0	0	0	0	0	1	3757	1078	38	1		1	COPA	1	160312934	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	3642159	160312934	88937687	12	33239											
RC3H1	149041	broad.mit.edu	37	chr1	173961928	173961928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcaatgctgagttcaCagggaggagctcaatgtctg	10	9	13	9	0	3	1	2	1	1	0	3	3	3	3	0	2	4	5	0	2	2	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:173961928C>A	ENST00000367696.2	-	2	547	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L	RC3H1_ENST00000258349.4_Missense_Mutation_p.V66L|RC3H1_ENST00000367694.2_Missense_Mutation_p.V66L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	66					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCTGAGTTCACAGGGAGGAGC	0.483													26	31					7.01153e-11	7.96419e-11	1	0	A	173961928	C	A	173961928	3	1	189	1	0	0	0	0	1	0	0	0	13248	478	17	4	3281	4	RC3H1	1	173961928	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	13648994	173961928	75288693	13	33240											
CEP350	9857	broad.mit.edu	37	chr1	180010837	180010837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggttcaatcacaacGggaagtaactgaagtcctgc	12	8	12	9	1	2	1	2	1	0	0	3	2	3	2	1	3	3	3	1	3	5	2	rs138458512		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:180010837G>A	ENST00000367607.3	+	19	4680	c.4262G>A	c.(4261-4263)cGg>cAg	p.R1421Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1421						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAATCACAACGGGAAGTAACT	0.438													8	19					0	0	0	0	A	180010837	G	A	180010837	3	1	189	1	0	0	0	0	1	0	0	0	3283	1116	39	1	4332	1	CEP350	1	180010837	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	6048909	180010837	69239784	14	33241											
CACNA1S	779	broad.mit.edu	37	chr1	201022675	201022675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcatgacacggaacaggCggaagaaggcgctggagatg	12	4	16	9	3	1	3	1	1	0	2	1	6	1	5	1	5	1	1	1	5	3	0			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:201022675C>T	ENST00000362061.3	-	30	3933	c.3707G>A	c.(3706-3708)cGc>cAc	p.R1236H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1217H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1236					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACGGAACAGGCGGAAGAAGGC	0.622													4	73					0	0	0	0	T	201022675	C	T	201022675	3	4	189	1	0	0	0	0	1	0	0	0	2572	768	27	1	1974	1	CACNA1S	1	201022675	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	21011838	201022675	48227946	15	33242											
OTOF	9381	broad.mit.edu	37	chr2	26700047	26700047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggccgcacctcgtccGccaggaagcgcagcttctgc	5	7	12	17	4	1	0	0	0	1	0	3	1	2	1	5	2	3	3	5	2	1	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:26700047G>A	ENST00000272371.2	-	21	2642	c.2516C>T	c.(2515-2517)gCg>gTg	p.A839V	OTOF_ENST00000402415.3_Missense_Mutation_p.A149V|OTOF_ENST00000403946.3_Missense_Mutation_p.A839V|OTOF_ENST00000338581.6_Missense_Mutation_p.A92V|OTOF_ENST00000339598.3_Missense_Mutation_p.A92V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	839					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCGTCCGCCAGGAAGCG	0.682													3	18					0	0	0	0	A	26700047	G	A	26700047	3	1	189	1	0	0	0	0	1	0	0	0	11374	1087	38	1	3766	1	OTOF	2	26700047	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08		26700047	216499326	16	33243											
TRMT61B	55006	broad.mit.edu	37	chr2	29092443	29092443	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccttatctccatcgcattAcctttgggaatgttatggca	9	14	7	11	1	1	0	0	0	1	0	3	1	1	1	3	2	1	3	3	2	4	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:29092443A>G	ENST00000306108.5	-	1	723		c.e1+1			NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)								tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CCATCGCATTACCTTTGGGAA	0.448													94	193					0	0	0	0	G	29092443	A	G	29092443	5	3	189	1	0	0	0	0	0	0	1	0	16665	405	14	5	760	5	TRMT61B	2	29092443	Splice_Site	SNP	A	TCGA-CR-6491-01A-11D-1870-08	2392396	29092443	214106930	17	33244											
QPCT	25797	broad.mit.edu	37	chr2	37586939	37586939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagccactgattcagccGtgccatgtgcaatgatgttg	9	11	12	9	1	1	2	1	2	0	0	1	3	1	3	3	1	4	2	3	1	2	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:37586939G>A	ENST00000338415.3	+	3	642	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	QPCT_ENST00000537448.1_Missense_Mutation_p.V113M	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	162					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				TGATTCAGCCGTGCCATGTGC	0.443													39	96					0	0	0	0	A	37586939	G	A	37586939	3	1	189	1	0	0	0	0	1	0	0	0	12956	1145	40	1	494	1	QPCT	2	37586939	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	8494496	37586939	205612434	18	33245											
BCL11A	53335	broad.mit.edu	37	chr2	60688292	60688292	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggccaccgagtcttcgtcGcaagtgtccctgtggccctc	4	9	11	17	4	1	0	0	0	1	0	5	1	2	0	5	2	0	1	5	2	1	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:60688292G>C	ENST00000335712.6	-	4	1982	c.1755C>G	c.(1753-1755)tgC>tgG	p.C585W	BCL11A_ENST00000537768.1_Missense_Mutation_p.C254W|BCL11A_ENST00000538214.1_Missense_Mutation_p.C551W|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.C585W|BCL11A_ENST00000358510.4_Missense_Mutation_p.C551W	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	585					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGTCTTCGTCGCAAGTGTCCC	0.682			T	IGH@	B-CLL								12	30					0	0	0	0	C	60688292	G	C	60688292	3	2	189	1	0	0	0	0	1	0	0	0	1367	1079	38	3	862	3	BCL11A	2	60688292	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	23101353	60688292	182511081	19	33246											
MTHFD2	10797	broad.mit.edu	37	chr2	74441326	74441326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgctgaggcttgaagagcGagaagtgctgaagtctaaag	12	8	16	5	1	1	5	0	3	1	2	1	6	1	5	0	2	3	3	0	2	5	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:74441326G>A	ENST00000394053.2	+	8	1090	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	MTHFD2_ENST00000394050.3_Missense_Mutation_p.R173Q|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000264090.4_Missense_Mutation_p.R235Q|MTHFD2_ENST00000409804.1_Missense_Mutation_p.R209Q|MTHFD2_ENST00000409601.1_Missense_Mutation_p.R254Q	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	337					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTTGAAGAGCGAGAAGTGCTG	0.468													36	64					0	0	0	0	A	74441326	G	A	74441326	3	1	189	1	0	0	0	0	1	0	0	0	9999	1058	37	1	1040	1	MTHFD2	2	74441326	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	13753034	74441326	168758047	20	33247											
LCT	3938	broad.mit.edu	37	chr2	136567035	136567035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcggagcatattcagatcgGcatccagctggtgatagctg	9	10	12	10	2	1	2	1	1	0	1	4	3	2	3	1	3	3	4	1	3	2	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:136567035G>A	ENST00000264162.2	-	8	2892	c.2882C>T	c.(2881-2883)gCc>gTc	p.A961V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	961	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATTCAGATCGGCATCCAGCTG	0.517													4	103					0	0	0	0	A	136567035	G	A	136567035	3	1	189	1	0	0	0	0	1	0	0	0	8746	1203	42	4	2941	4	LCT	2	136567035	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	62125709	136567035	106632338	21	33248											
CHN1	1123	broad.mit.edu	37	chr2	175779816	175779816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtaggtccctggctgcCgctggctctcccggatgagg	5	9	15	12	2	1	1	0	1	1	0	3	2	2	2	3	5	1	4	3	5	2	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:175779816C>T	ENST00000409900.3	-	5	543	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Missense_Mutation_p.R77Q	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	77	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CCCTGGCTGCCGCTGGCTCTC	0.463			T	TAF15	extraskeletal myxoid chondrosarcoma								3	16					0	0	0	0	T	175779816	C	T	175779816	3	4	189	1	0	0	0	0	1	0	0	0	3391	652	23	1	1185	1	CHN1	2	175779816	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	39212781	175779816	67419557	22	33249											
CERKL	375298	broad.mit.edu	37	chr2	182403829	182403829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atagacttacctaatatggaCctctgatgcaacttccatta	13	13	5	10	0	1	2	0	1	1	1	2	3	2	3	3	1	3	1	3	1	6	6			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:182403829C>T	ENST00000410087.3	-	12	1628	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	CERKL_ENST00000339098.5_Missense_Mutation_p.V536I|CERKL_ENST00000374970.2_Missense_Mutation_p.V441I|CERKL_ENST00000409440.3_Missense_Mutation_p.V492I|CERKL_ENST00000374969.2_Missense_Mutation_p.V397I	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	536					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	p.V510I(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTAATATGGACCTCTGATGCA	0.373													27	45					0	0	0	0	T	182403829	C	T	182403829	3	4	189	1	0	0	0	0	1	0	0	0	3297	507	18	4	78	4	CERKL	2	182403829	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	6624013	182403829	60795544	23	33250											
GULP1	51454	broad.mit.edu	37	chr2	189434779	189434779	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagacttagaaacagaaaatAtggaacttaaaaataaagta	24	8	6	3	0	0	3	0	0	0	3	0	4	0	4	0	1	2	1	0	1	13	5			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:189434779A>G	ENST00000409580.1	+	10	1255	c.541A>G	c.(541-543)Atg>Gtg	p.M181V	GULP1_ENST00000409805.1_Missense_Mutation_p.M78V|GULP1_ENST00000409843.1_Missense_Mutation_p.M181V|GULP1_ENST00000409609.1_Missense_Mutation_p.M181V|GULP1_ENST00000409830.1_Missense_Mutation_p.M181V|GULP1_ENST00000359135.3_Missense_Mutation_p.M181V			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	181					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			AACAGAAAATATGGAACTTAA	0.289													14	24					0	0	0	0	G	189434779	A	G	189434779	3	3	189	1	0	0	0	0	1	0	0	0	6951	449	16	5	567	5	GULP1	2	189434779	Missense_Mutation	SNP	A	TCGA-CR-6491-01A-11D-1870-08	7030950	189434779	53764594	24	33251											
SATB2	23314	broad.mit.edu	37	chr2	200173524	200173524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaccacgtgttgcatgcGttcgctgtggtgatgccttg	4	13	14	10	3	0	1	0	1	0	0	1	2	0	2	2	2	3	4	2	2	0	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:200173524G>A	ENST00000443023.1	-	9	2987	c.1522C>T	c.(1522-1524)Cgc>Tgc	p.R508C	SATB2_ENST00000428695.1_Missense_Mutation_p.R449C|SATB2_ENST00000260926.5_Missense_Mutation_p.R567C|SATB2_ENST00000457245.1_Missense_Mutation_p.R567C|SATB2_ENST00000417098.1_Missense_Mutation_p.R567C			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	567						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTTGCATGCGTTCGCTGTGG	0.597													20	75					0	0	0	0	A	200173524	G	A	200173524	3	1	189	1	0	0	0	0	1	0	0	0	13940	1145	40	1	510	1	SATB2	2	200173524	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	10738745	200173524	43025849	25	33252											
FN1	2335	broad.mit.edu	37	chr2	216284069	216284069	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttctcccatgaatctccaAtttgataaaacgtcccagtc	12	12	4	13	1	2	2	0	2	2	0	6	2	3	2	3	0	1	0	3	0	4	3	rs150405747		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:216284069A>T	ENST00000354785.4	-	12	2084	c.1715T>A	c.(1714-1716)aTt>aAt	p.I572N	FN1_ENST00000357867.4_Missense_Mutation_p.I572N|FN1_ENST00000421182.1_Missense_Mutation_p.I572N|FN1_ENST00000357009.2_Missense_Mutation_p.I572N|FN1_ENST00000356005.4_Missense_Mutation_p.I572N|FN1_ENST00000323926.6_Missense_Mutation_p.I572N|FN1_ENST00000346544.3_Missense_Mutation_p.I572N|FN1_ENST00000345488.5_Missense_Mutation_p.I572N|FN1_ENST00000336916.4_Missense_Mutation_p.I572N|FN1_ENST00000426059.1_Missense_Mutation_p.I572N|FN1_ENST00000432072.2_Missense_Mutation_p.I572N|FN1_ENST00000359671.1_Missense_Mutation_p.I572N|FN1_ENST00000443816.1_Missense_Mutation_p.I572N|FN1_ENST00000446046.1_Missense_Mutation_p.I572N			P02751	FINC_HUMAN	fibronectin 1	572	Collagen-binding.|Fibronectin type-I 9.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAATCTCCAATTTGATAAAA	0.418													14	34					0	0	0	0	T	216284069	A	T	216284069	3	4	189	1	0	0	0	0	1	0	0	0	6007	101	4	5	5891	5	FN1	2	216284069	Missense_Mutation	SNP	A	TCGA-CR-6491-01A-11D-1870-08	16110545	216284069	26915304	26	33253											
STK36	27148	broad.mit.edu	37	chr2	219540848	219540848	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggaggagcgaccataCgaccacacagcggacctctg	10	5	13	13	3	1	0	0	0	1	0	1	5	1	3	3	4	3	0	3	4	1	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:219540848C>T	ENST00000295709.3	+	6	810	c.531C>T	c.(529-531)taC>taT	p.Y177Y	STK36_ENST00000440309.1_Silent_p.Y177Y|STK36_ENST00000392106.2_Silent_p.Y177Y|STK36_ENST00000392105.3_Silent_p.Y177Y	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	177	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGCGACCATACGACCACACAG	0.532													7	132					0	0	0	0	T	219540848	C	T	219540848	2	4	189	1	0	0	0	0	0	0	0	1	15392	547	19	1		1	STK36	2	219540848	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08	3256779	219540848	23658525	27	33254											
UGT1A5	54579	broad.mit.edu	37	chr2	234621836	234621836	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcaccctggaggtgaatAtgtacatcaaagaagagaac	15	8	9	9	0	2	3	2	1	0	2	3	5	3	4	2	2	2	1	2	2	6	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:234621836A>G	ENST00000373414.3	+	1	199	c.199A>G	c.(199-201)Atg>Gtg	p.M67V	UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GGAGGTGAATATGTACATCAA	0.547													23	48					0	0	0	0	G	234621836	A	G	234621836	3	3	189	1	0	0	0	0	1	0	0	0	17044	449	16	5	201	5	UGT1A5	2	234621836	Missense_Mutation	SNP	A	TCGA-CR-6491-01A-11D-1870-08	15080988	234621836	8577537	28	33255											
COL6A3	1293	broad.mit.edu	37	chr2	238303780	238303780	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcgaacaagttggaaatgTtcctctccaatggtccaaga	12	11	8	10	1	2	1	0	0	2	1	6	3	4	2	3	2	1	2	3	2	5	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:238303780T>A	ENST00000295550.4	-	3	611	c.159A>T	c.(157-159)gaA>gaT	p.E53D	COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.E53D|COL6A3_ENST00000346358.4_Missense_Mutation_p.E53D|COL6A3_ENST00000409809.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	53	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGGAAATGTTCCTCTCCAA	0.368													15	23					0	0	0	0	A	238303780	T	A	238303780	3	1	189	1	0	0	0	0	1	0	0	0	3731	1722	60	5	9589	5	COL6A3	2	238303780	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	3681944	238303780	4895593	29	33256											
NUP210	23225	broad.mit.edu	37	chr3	13377046	13377046	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaccaccctcagcccggTccggccttttacccggccga	6	6	9	20	4	1	0	1	0	0	0	2	2	2	0	8	3	2	0	8	3	1	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:13377046T>C	ENST00000254508.5	-	28	3833	c.3751A>G	c.(3751-3753)Acc>Gcc	p.T1251A		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1251					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTCAGCCCGGTCCGGCCTTTT	0.592													8	37					0	0	0	0	C	13377046	T	C	13377046	3	2	189	1	0	0	0	0	1	0	0	0	10831	1667	58	5	1964	5	NUP210	3	13377046	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08		13377046	184645384	30	33257											
FBLN2	2199	broad.mit.edu	37	chr3	13679190	13679190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttccgcattggccccgCgccagccttcacgggggaca	6	8	11	16	4	2	0	1	0	1	0	3	1	3	1	5	3	1	1	5	3	1	4	rs112412824		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:13679190C>T	ENST00000404922.3	+	18	3586	c.3467C>T	c.(3466-3468)gCg>gTg	p.A1156V	FBLN2_ENST00000492059.1_Missense_Mutation_p.A1156V|FBLN2_ENST00000535798.1_Missense_Mutation_p.A1135V|FBLN2_ENST00000295760.7_Missense_Mutation_p.A1109V	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1109	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ATTGGCCCCGCGCCAGCCTTC	0.622													9	0					0	0	0	0	T	13679190	C	T	13679190	3	4	189	1	0	0	0	0	1	0	0	0	5744	768	27	1	2223	1	FBLN2	3	13679190	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	302144	13679190	184343240	31	33258											
ANKRD28	23243	broad.mit.edu	37	chr3	15731669	15731669	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccactactatttctgacaTcaagatctaacaaagactgt	14	13	4	10	0	3	3	1	1	2	2	4	3	4	3	1	0	2	0	1	0	5	5			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:15731669T>C	ENST00000399451.2	-	18	2097	c.1730A>G	c.(1729-1731)gAt>gGt	p.D577G	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.D610G	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	577						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATTTCTGACATCAAGATCTAA	0.363													2	5					0	0	0	0	C	15731669	T	C	15731669	3	2	189	1	0	0	0	0	1	0	0	0	656	1435	50	5	1475	5	ANKRD28	3	15731669	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	2052479	15731669	182290761	32	33259											
XIRP1	165904	broad.mit.edu	37	chr3	39227515	39227530	+	Frame_Shift_Del	DEL	CCATCCTGAATTGTCA	CCATCCTGAATTGTCA	-																															cgggatgagcggtgtagatgCcatcctgaattgtcacccac																										TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:39227515_39227530delCCATCCTGAATTGTCA	ENST00000340369.3	-	2	3635_3650	c.3407_3422delTGACAATTCAGGATGG	c.(3406-3423)gcfs	p.VTIQDG1136fs	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1136							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGTGTAGATGCCATCCTGAATTGTCACCCACCCCCC	0.606													15	30	---	---	---	---					-	39227530	CCATCCTGAATTGTCA	-	39227515	7	5	189	1	0	1	0	1	0	0	0	0	17525	739	26	0	2113	0	XIRP1	3	39227515	Frame_Shift_Del	DEL	CCATCCTGAATTGTCA	TCGA-CR-6491-01A-11D-1870-08	23495846	39227515	158794915	33	33260											
IFRD2	7866	broad.mit.edu	37	chr3	50326350	50326350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgcagagggcctccatgtCctcgtaaacaaactcctcct	10	9	7	15	1	0	1	0	0	0	1	5	1	4	1	5	1	3	2	5	1	3	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:50326350C>A	ENST00000436390.1	-	12	1401	c.904G>T	c.(904-906)Gac>Tac	p.D302Y	IFRD2_ENST00000417626.2_Missense_Mutation_p.D302Y|IFRD2_ENST00000336089.4_Missense_Mutation_p.D468Y|IFRD2_ENST00000429673.2_Missense_Mutation_p.D366Y			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	366							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCTCCATGTCCTCGTAAACA	0.587													8	3					0.000157383	0.000168683	1	0	A	50326350	C	A	50326350	3	1	189	1	0	0	0	0	1	0	0	0	7607	855	30	2	440	2	IFRD2	3	50326350	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	11098835	50326350	147696080	34	33261											
FLNB	2317	broad.mit.edu	37	chr3	58104676	58104676	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtgggtgttgctgcaccGctggatctgagcaagataaa	10	10	13	8	1	1	2	0	1	1	1	1	3	1	3	1	2	3	5	1	2	3	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:58104676G>T	ENST00000357272.4	+	19	2988	c.2823G>T	c.(2821-2823)ccG>ccT	p.P941P	FLNB_ENST00000490882.1_Silent_p.P941P|FLNB_ENST00000348383.5_Silent_p.P941P|FLNB_ENST00000358537.3_Silent_p.P941P|FLNB_ENST00000295956.4_Silent_p.P941P|FLNB_ENST00000419752.2_Silent_p.P772P|FLNB_ENST00000493452.1_Silent_p.P772P|FLNB_ENST00000429972.2_Silent_p.P941P			O75369	FLNB_HUMAN	filamin B, beta	941					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTGCTGCACCGCTGGATCTGA	0.517													6	47					0.00116845	0.00124594	1	0	T	58104676	G	T	58104676	2	4	189	1	0	0	0	0	0	0	0	1	5979	1074	38	3		3	FLNB	3	58104676	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	7778326	58104676	139917754	35	33262											
FLNB	2317	broad.mit.edu	37	chr3	58111419	58111419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgcaagcccaaggacctgGattgaaagaggcctttacca	12	7	12	10	0	0	2	0	1	0	1	0	4	0	4	4	4	3	1	4	4	4	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:58111419G>T	ENST00000357272.4	+	23	4175	c.4010G>T	c.(4009-4011)gGa>gTa	p.G1337V	FLNB_ENST00000490882.1_Missense_Mutation_p.G1337V|FLNB_ENST00000348383.5_Missense_Mutation_p.G1337V|FLNB_ENST00000358537.3_Missense_Mutation_p.G1337V|FLNB_ENST00000295956.4_Missense_Mutation_p.G1337V|FLNB_ENST00000419752.2_Missense_Mutation_p.G1168V|FLNB_ENST00000493452.1_Missense_Mutation_p.G1168V|FLNB_ENST00000429972.2_Missense_Mutation_p.G1337V			O75369	FLNB_HUMAN	filamin B, beta	1337	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAAGGACCTGGATTGAAAGAG	0.522													36	34					9.04072e-19	1.05559e-18	1	0	T	58111419	G	T	58111419	3	4	189	1	0	0	0	0	1	0	0	0	5979	1174	41	2	4100	2	FLNB	3	58111419	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	6743	58111419	139911011	36	33263											
KPNA1	3836	broad.mit.edu	37	chr3	122145937	122145937	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcttcatcttcggtcccGaagtaatgctcaataagatc	10	13	7	11	2	4	1	2	0	2	1	7	2	5	1	1	1	1	2	1	1	4	4	rs143005503		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:122145937G>A	ENST00000344337.6	-	14	1688	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	504					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CTTCGGTCCCGAAGTAATGCT	0.438													3	57					0	0	0	0	A	122145937	G	A	122145937	2	1	189	1	0	0	0	0	0	0	0	1	8481	1049	37	1		1	KPNA1	3	122145937	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	64034518	122145937	75876493	37	33264											
MSL2	55167	broad.mit.edu	37	chr3	135870380	135870380	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtacacagtcttggtaGgacttcctggcataaaatga	11	14	9	7	0	1	1	0	1	1	0	2	2	2	2	1	3	1	3	1	3	4	7			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:135870380G>C	ENST00000309993.2	-	2	2075	c.1343C>G	c.(1342-1344)cCt>cGt	p.P448R	MSL2_ENST00000434835.2_Missense_Mutation_p.P374R	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	448	Lys-rich.				histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						AGTCTTGGTAGGACTTCCTGG	0.423													37	96					0	0	0	0	C	135870380	G	C	135870380	3	2	189	1	0	0	0	0	1	0	0	0	9948	1000	35	4	394	4	MSL2	3	135870380	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	13724443	135870380	62152050	38	33265											
PLSCR1	5359	broad.mit.edu	37	chr3	146251283	146251283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtcggtggatactgaGgaggatacccaactggcaag	11	8	14	8	1	0	1	0	1	0	0	1	4	0	4	1	5	4	2	1	5	4	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:146251283G>C	ENST00000342435.4	-	3	478	c.68C>G	c.(67-69)cCt>cGt	p.P23R	PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000487389.1_Missense_Mutation_p.P16R|PLSCR1_ENST00000448787.2_Missense_Mutation_p.L15V	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	23					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TGGATACTGAGGAGGATACCC	0.408													46	67					0	0	0	0	C	146251283	G	C	146251283	3	2	189	1	0	0	0	0	1	0	0	0	12181	1000	35	4	916	4	PLSCR1	3	146251283	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	10380903	146251283	51771147	39	33266											
AGTR1	185	broad.mit.edu	37	chr3	148458873	148458873	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaaaagaatccaagatgaTtgtcccaaagctggaaggca	17	8	9	7	0	0	3	0	1	0	2	2	4	2	4	2	2	1	2	2	2	6	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:148458873T>C	ENST00000542281.1	+	4	497	c.51T>C	c.(49-51)gaT>gaC	p.D17D	AGTR1_ENST00000474935.1_Silent_p.D17D|AGTR1_ENST00000418473.2_Silent_p.D17D|AGTR1_ENST00000404754.2_Silent_p.D17D|AGTR1_ENST00000349243.3_Silent_p.D17D|AGTR1_ENST00000402260.1_Silent_p.D17D|AGTR1_ENST00000497524.1_Silent_p.D17D|AGTR1_ENST00000461609.1_Silent_p.D17D|AGTR1_ENST00000475347.1_Silent_p.D17D	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	17					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TCCAAGATGATTGTCCCAAAG	0.363													28	32					0	0	0	0	C	148458873	T	C	148458873	2	2	189	1	0	0	0	0	0	0	0	1	401	1490	52	5		5	AGTR1	3	148458873	Silent	SNP	T	TCGA-CR-6491-01A-11D-1870-08	2207590	148458873	49563557	40	33267											
IGSF10	285313	broad.mit.edu	37	chr3	151166715	151166715	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaagtatttagcacgaTgtagtcattttcttcagtga	13	15	8	5	1	3	2	2	2	1	0	3	3	3	2	0	0	1	3	0	0	5	7			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:151166715T>C	ENST00000282466.3	-	4	1053	c.1054A>G	c.(1054-1056)Atc>Gtc	p.I352V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	352					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTAGCACGATGTAGTCATTT	0.398													26	52					0	0	0	0	C	151166715	T	C	151166715	3	2	189	1	0	0	0	0	1	0	0	0	7650	1464	51	5	6877	5	IGSF10	3	151166715	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	2707842	151166715	46855715	41	33268											
NLGN1	22871	broad.mit.edu	37	chr3	173998698	173998698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgtttctgaacatcttgGcctttgcagccctgtactac	6	15	8	12	0	2	1	0	1	2	0	2	1	2	1	2	1	6	4	2	1	3	5			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:173998698G>T	ENST00000457714.1	+	7	2506	c.2077G>T	c.(2077-2079)Gcc>Tcc	p.A693S	NLGN1_ENST00000545397.1_Missense_Mutation_p.A693S|NLGN1_ENST00000401917.3_Missense_Mutation_p.A733S|NLGN1_ENST00000361589.4_Missense_Mutation_p.A693S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	710					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GAACATCTTGGCCTTTGCAGC	0.463													50	68					2.27781e-18	2.64479e-18	1	0	T	173998698	G	T	173998698	3	4	189	1	0	0	0	0	1	0	0	0	10531	1203	42	4	2095	4	NLGN1	3	173998698	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	22831983	173998698	24023732	42	33269											
HTT	3064	broad.mit.edu	37	chr4	3101073	3101073	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcagtgatgacgcagaGtcagatgtcaggatggtggc	9	9	16	7	1	2	4	2	2	0	2	2	5	2	5	0	3	1	2	0	3	0	0			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:3101073G>A	ENST00000355072.5	+	3	565	c.420G>A	c.(418-420)gaG>gaA	p.E140E		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	140					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATGACGCAGAGTCAGATGTCA	0.428													4	59					0	0	0	0	A	3101073	G	A	3101073	2	1	189	1	0	0	0	0	0	0	0	1	7510	1020	36	4		4	HTT	4	3101073	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08		3101073	188053203	43	33270											
TLR6	10333	broad.mit.edu	37	chr4	38830188	38830188	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgtcaatgctttcaatgTcgttttagaataagtaaaat	14	17	6	4	1	2	1	2	0	0	1	3	1	2	1	0	0	1	3	0	0	8	7			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:38830188T>C	ENST00000436693.2	-	2	1026	c.907A>G	c.(907-909)Aca>Gca	p.T303A	TLR6_ENST00000381950.1_Missense_Mutation_p.T303A	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	303					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTTTCAATGTCGTTTTAGAA	0.318													10	11					0	0	0	0	C	38830188	T	C	38830188	3	2	189	1	0	0	0	0	1	0	0	0	16049	1667	58	5	1487	5	TLR6	4	38830188	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	35729115	38830188	152324088	44	33271											
KIT	3815	broad.mit.edu	37	chr4	55594178	55594178	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgtttccaattttagcGagtgcccatttgacagaacg	10	13	9	9	2	0	2	0	1	0	1	1	3	1	2	2	0	4	2	2	0	3	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:55594178G>T	ENST00000288135.5	+	13	1978	c.1879_splice	c.e13-1	p.P627_splice		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	627	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAATTTTAGCGAGTGCCCATT	0.433		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				36	48					3.21399e-22	3.79506e-22	1	0	T	55594178	G	T	55594178	5	4	189	1	0	0	0	0	0	0	1	0	8381	1072	37	3	1931	3	KIT	4	55594178	Splice_Site	SNP	G	TCGA-CR-6491-01A-11D-1870-08	16763990	55594178	135560098	45	33272											
EPHA5	2044	broad.mit.edu	37	chr4	66467472	66467472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggaggttcatcggtcacaGaatggttgacacaggagcct	10	9	14	8	1	2	2	2	1	0	1	3	4	2	4	1	5	1	2	1	5	1	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:66467472G>C	ENST00000273854.3	-	3	1397	c.797C>G	c.(796-798)tCt>tGt	p.S266C	EPHA5_ENST00000511294.1_Missense_Mutation_p.S266C|EPHA5_ENST00000432638.2_Missense_Mutation_p.S266C|EPHA5_ENST00000354839.4_Missense_Mutation_p.S266C	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	266	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCGGTCACAGAATGGTTGAC	0.527										TSP Lung(17;0.13)			23	32					0	0	0	0	C	66467472	G	C	66467472	3	2	189	1	0	0	0	0	1	0	0	0	5208	942	33	2	2380	2	EPHA5	4	66467472	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	10873294	66467472	124686804	46	33273											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68934384	68934384	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtgttactgatgaggCtggctccacactgatggcct	7	11	12	11	0	0	3	0	3	0	0	1	3	1	3	3	3	1	3	3	3	1	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:68934384C>G	ENST00000356291.2	-	7	766	c.707G>C	c.(706-708)aGc>aCc	p.S236T	RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	236	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ACTGATGAGGCTGGCTCCACA	0.522													5	71					0	0	0	0	G	68934384	C	G	68934384	3	3	189	1	0	0	0	0	1	0	0	0	16337	797	28	4	625	4	TMPRSS11F	4	68934384	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	2466912	68934384	122219892	47	33274											
SLC4A4	8671	broad.mit.edu	37	chr4	72425949	72425949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaaagaagaagggaaGtctggacagtgacaatgatg	20	5	13	3	0	1	5	0	2	1	3	1	7	1	7	0	2	0	0	0	2	7	0			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:72425949G>T	ENST00000340595.3	+	20	3141	c.2945G>T	c.(2944-2946)aGt>aTt	p.S982I	SLC4A4_ENST00000425175.1_Missense_Mutation_p.S1026I|SLC4A4_ENST00000351898.6_Missense_Mutation_p.S942I|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S1026I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	1026						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			aagaagGGAAGTCTGGACAGT	0.388													16	25					4.7546e-09	5.34254e-09	1	0	T	72425949	G	T	72425949	3	4	189	1	0	0	0	0	1	0	0	0	14744	1029	36	4	3284	4	SLC4A4	4	72425949	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	3491565	72425949	118728327	48	33275											
UNC5C	8633	broad.mit.edu	37	chr4	96141148	96141148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caactgaccttgtcttgctgCcttgatgttcacaggctgaa	8	13	9	11	0	2	3	1	3	1	0	2	3	2	3	2	1	3	3	2	1	2	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:96141148C>T	ENST00000453304.1	-	8	1636	c.1288G>A	c.(1288-1290)Gca>Aca	p.A430T	UNC5C_ENST00000506749.1_Missense_Mutation_p.A449T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	430					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGTCTTGCTGCCTTGATGTTC	0.428													33	79					0	0	0	0	T	96141148	C	T	96141148	3	4	189	1	0	0	0	0	1	0	0	0	17089	739	26	4	1543	4	UNC5C	4	96141148	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	23715199	96141148	95013128	49	33276											
C4orf3	401152	broad.mit.edu	37	chr4	120221571	120221571	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaaccagtaggagtgtttGggaagcccatttgccccaga	10	9	11	11	0	0	1	0	0	0	1	1	3	1	3	5	2	3	2	5	2	3	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:120221571G>A	ENST00000399075.4	-	2	518	c.519C>T	c.(517-519)ccC>ccT	p.P173P	C4orf3_ENST00000504110.1_Silent_p.P40P	NM_001170330.1	NP_001163801.1	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3	40						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						AGGAGTGTTTGGGAAGCCCAT	0.517													47	71					0	0	0	0	A	120221571	G	A	120221571	2	1	189	1	0	0	0	0	0	0	0	1	2281	1335	47	4		4	C4orf3	4	120221571	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	24080423	120221571	70932705	50	33277											
SLC6A19	340024	broad.mit.edu	37	chr5	1219624	1219624	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccccggcctgcaggcctCatctgcctggggacattcct	4	9	11	17	1	2	0	1	0	1	0	4	1	4	1	6	4	2	1	6	4	0	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr5:1219624C>T	ENST00000304460.10	+	10	1439	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	461					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGCAGGCCTCATCTGCCTGG	0.637													14	19					0	0	0	0	T	1219624	C	T	1219624	2	4	189	1	0	0	0	0	0	0	0	1	14770	813	29	2		2	SLC6A19	5	1219624	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08		1219624	179695636	51	33278											
EFNA5	1946	broad.mit.edu	37	chr5	106723440	106723440	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagactttgagctttagacAggaccttcttccattatctg	11	14	7	9	0	2	3	0	1	2	2	3	4	3	4	2	1	1	1	2	1	3	6			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr5:106723440A>G	ENST00000333274.6	-	3	732	c.451T>C	c.(451-453)Tgt>Cgt	p.C151R	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Missense_Mutation_p.C151R	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	151					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		AGCTTTAGACAGGACCTTCTT	0.438													10	144					0	0	0	0	G	106723440	A	G	106723440	3	3	189	1	0	0	0	0	1	0	0	0	4990	188	7	5	247	5	EFNA5	5	106723440	Missense_Mutation	SNP	A	TCGA-CR-6491-01A-11D-1870-08	105503816	106723440	74191820	52	33279											
TNFAIP8	25816	broad.mit.edu	37	chr5	118729027	118729027	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattttaaaccccacttacAaaaactatgtgatggtatca	16	12	5	8	0	1	1	1	1	0	0	1	2	1	1	2	1	3	1	2	1	8	5			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr5:118729027A>C	ENST00000504771.2	+	2	2325	c.548A>C	c.(547-549)cAa>cCa	p.Q183P	TNFAIP8_ENST00000503646.1_Missense_Mutation_p.Q183P|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.Q195P|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.Q185P|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.Q173P	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	183					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		CCCCACTTACAAAAACTATGT	0.343													3	129					0	0	0	0	C	118729027	A	C	118729027	3	2	189	1	0	0	0	0	1	0	0	0	16370	130	5	5	559	5	TNFAIP8	5	118729027	Missense_Mutation	SNP	A	TCGA-CR-6491-01A-11D-1870-08	12005587	118729027	62186233	53	33280											
DPYSL3	1809	broad.mit.edu	37	chr5	146778660	146778660	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttacagactggtggttcttGgcagagacgatcttcacagc	9	11	11	10	1	3	2	1	0	2	2	3	4	3	2	0	3	2	2	0	3	1	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr5:146778660G>T	ENST00000343218.5	-	11	1805	c.1608C>A	c.(1606-1608)gcC>gcA	p.A536A	DPYSL3_ENST00000534907.1_Silent_p.A48A|DPYSL3_ENST00000398514.3_Silent_p.A422A	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	422					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTTCTTGGCAGAGACGA	0.512													7	90					9.70103e-10	1.09595e-09	1	0	T	146778660	G	T	146778660	2	4	189	1	0	0	0	0	0	0	0	1	4784	1335	47	4		4	DPYSL3	5	146778660	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	28049633	146778660	34136600	54	33281											
GFPT2	9945	broad.mit.edu	37	chr5	179751887	179751887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactccgatgagcagggggCtgcctctcctgtagggagaa	8	7	16	10	1	1	2	0	1	1	1	3	5	2	3	3	4	2	3	3	4	2	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr5:179751887C>A	ENST00000253778.8	-	8	774	c.605G>T	c.(604-606)aGc>aTc	p.S202I		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	202	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GAGCAGGGGGCTGCCTCTCCT	0.527													36	64					9.80977e-26	1.17157e-25	1	0	A	179751887	C	A	179751887	3	1	189	1	0	0	0	0	1	0	0	0	6397	797	28	4	1491	4	GFPT2	5	179751887	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	32973227	179751887	1163373	55	33282											
TFAP2A	7020	broad.mit.edu	37	chr6	10410525	10410526	+	Frame_Shift_Ins	INS	-	-	G																															ttgacctacagtgcccagctINSggggcaaccgtgccgtcccg																										TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:10410525_10410526insG	ENST00000379613.3	-	2	350_351	c.94_95insC	c.(94-96)gctfs	p.A32fs	TFAP2A_ENST00000497266.1_5'UTR|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000379608.3_Frame_Shift_Ins_p.A24fs|TFAP2A_ENST00000482890.1_Frame_Shift_Ins_p.A30fs|TFAP2A_ENST00000379604.2_Frame_Shift_Ins_p.A30fs|TFAP2A_ENST00000319516.4_Frame_Shift_Ins_p.A26fs			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	30	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGTGCCCAGCTGGGGCAACCGT	0.614													10	22	---	---	---	---					G	10410526	-	G	10410525	7	5	189	1	0	1	1	0	0	0	0	0	15881	1580	55	0	1248	0	TFAP2A	6	10410525	Frame_Shift_Ins	INS	-	TCGA-CR-6491-01A-11D-1870-08		10410525	160704542	56	33283											
HIST1H2AL	8332	broad.mit.edu	37	chr6	27833150	27833150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgtcgggacgcggcaaGcagggaggcaaagctcgcgc	9	4	17	11	5	1	0	1	0	0	0	3	2	1	2	0	4	2	4	0	4	2	0			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:27833150G>C	ENST00000357320.2	+	1	117	c.18G>C	c.(16-18)aaG>aaC	p.K6N		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	6					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						GACGCGGCAAGCAGGGAGGCA	0.582													10	122					0	0	0	0	C	27833150	G	C	27833150	3	2	189	1	0	0	0	0	1	0	0	0	7188	962	34	4	20	4	HIST1H2AL	6	27833150	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	17422625	27833150	143281917	57	33284											
SYNGAP1	8831	broad.mit.edu	37	chr6	33400552	33400552	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagctttcgccagatcCtgcctcgcttccgaagtgct	6	10	9	16	3	0	1	0	0	0	1	4	2	2	1	5	0	4	4	5	0	1	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:33400552C>T	ENST00000418600.2	+	5	579	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	SYNGAP1_ENST00000428982.2_Silent_p.L101L|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.L160L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	160	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TCGCCAGATCCTGCCTCGCTT	0.557													20	29					0	0	0	0	T	33400552	C	T	33400552	2	4	189	1	0	0	0	0	0	0	0	1	15538	680	24	4		4	SYNGAP1	6	33400552	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08	5567402	33400552	137714515	58	33285											
PI16	221476	broad.mit.edu	37	chr6	36930912	36930912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtggaaacccaggcccCaacttccttagcaacgaaag	12	7	9	13	1	0	0	0	0	0	0	1	2	1	1	4	2	5	2	4	2	5	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:36930912C>T	ENST00000373674.3	+	5	1122	c.794C>T	c.(793-795)cCa>cTa	p.P265L	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	265						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCAGGCCCCAACTTCCTTA	0.577													8	89					0	0	0	0	T	36930912	C	T	36930912	3	4	189	1	0	0	0	0	1	0	0	0	11941	594	21	4	812	4	PI16	6	36930912	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	3530360	36930912	134184155	59	33286											
ABCC10	89845	broad.mit.edu	37	chr6	43406408	43406408	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtccaagggctttggcCtggccacccaggaaccctgg	6	7	14	14	0	0	0	0	0	0	0	1	1	1	1	5	6	1	2	5	6	2	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:43406408C>T	ENST00000244533.3	+	6	2277	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	ABCC10_ENST00000372530.4_Silent_p.L668L	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	668	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGGCTTTGGCCTGGCCACCCA	0.592													32	47					0	0	0	0	T	43406408	C	T	43406408	2	4	189	1	0	0	0	0	0	0	0	1	50	680	24	4		4	ABCC10	6	43406408	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08	6475496	43406408	127708659	60	33287											
KCNQ5	56479	broad.mit.edu	37	chr6	73904678	73904678	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaaagcatttctgacgtCaccacctgccttgttgcctc	8	11	8	14	1	2	1	1	1	1	0	3	2	2	2	4	1	3	2	4	1	1	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:73904678C>T	ENST00000342056.2	+	15	2795	c.2397C>T	c.(2395-2397)gtC>gtT	p.V799V	KCNQ5_ENST00000402622.2_Silent_p.V790V|KCNQ5_ENST00000370398.1_Silent_p.V780V|KCNQ5_ENST00000414165.2_Silent_p.V670V|KCNQ5_ENST00000355635.3_Silent_p.V781V|KCNQ5_ENST00000403813.2_Silent_p.V771V|KCNQ5_ENST00000355194.4_Silent_p.V780V	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	780				T -> P (in Ref. 6; AAF73446).	protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTTCTGACGTCACCACCTGCC	0.507													7	39					0	0	0	0	T	73904678	C	T	73904678	2	4	189	1	0	0	0	0	0	0	0	1	8139	813	29	2		2	KCNQ5	6	73904678	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08	30498270	73904678	97210389	61	33288											
MYO6	4646	broad.mit.edu	37	chr6	76602328	76602328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcaggagcgcagggacCgggagctggccctgaggatt	8	5	19	9	2	0	1	0	1	0	0	0	6	0	6	2	6	3	3	2	6	0	1	rs148245729		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:76602328C>T	ENST00000369981.3	+	28	3307	c.3028C>T	c.(3028-3030)Cgg>Tgg	p.R1010W	MYO6_ENST00000369985.4_Missense_Mutation_p.R1010W|MYO6_ENST00000369975.1_Missense_Mutation_p.R1010W|MYO6_ENST00000369977.3_Missense_Mutation_p.R1010W			Q9UM54	MYO6_HUMAN	myosin VI	1010	Glu-rich.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GCGCAGGGACCGGGAGCTGGC	0.647													23	19					0	0	0	0	T	76602328	C	T	76602328	3	4	189	1	0	0	0	0	1	0	0	0	10151	643	23	1	3134	1	MYO6	6	76602328	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	2697650	76602328	94512739	62	33289											
SYNE1	23345	broad.mit.edu	37	chr6	152639352	152639352	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttctgtactgctgcatctAattccattaactttgaatta	11	18	4	8	0	2	1	0	1	2	0	3	1	3	1	1	0	4	3	1	0	5	7			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:152639352A>T	ENST00000367255.5	-	86	17037	c.16436T>A	c.(16435-16437)tTa>tAa	p.L5479*	SYNE1_ENST00000356820.4_Nonsense_Mutation_p.L3*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.L5479*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.L5408*|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.L5408*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5479					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTGCATCTAATTCCATTAA	0.403										HNSCC(10;0.0054)			27	19					0	0	0	0	T	152639352	A	T	152639352	4	4	189	1	0	0	0	0	0	1	0	0	15536	372	13	5	10274	5	SYNE1	6	152639352	Nonsense_Mutation	SNP	A	TCGA-CR-6491-01A-11D-1870-08	76037024	152639352	18475715	63	33290											
GLCCI1	113263	broad.mit.edu	37	chr7	8125840	8125840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggtctcgtcagcctatctCggcccctctcttttcatgtc	4	15	7	15	2	5	0	2	0	3	0	9	0	5	0	3	2	1	0	3	2	2	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:8125840C>T	ENST00000223145.5	+	8	1873	c.1316C>T	c.(1315-1317)tCg>tTg	p.S439L		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	439										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CAGCCTATCTCGGCCCCTCTC	0.388													13	221					0	0	0	0	T	8125840	C	T	8125840	3	4	189	1	0	0	0	0	1	0	0	0	6482	893	31	1	1346	1	GLCCI1	7	8125840	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08		8125840	151012823	64	33291											
DNAH11	8701	broad.mit.edu	37	chr7	21627788	21627788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatacagagctggatgtgtGtaagcaactgtataatgaac	15	11	10	5	0	0	2	0	1	0	1	0	3	0	3	0	1	5	4	0	1	7	5			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:21627788G>A	ENST00000328843.6	+	10	1848	c.1817G>A	c.(1816-1818)tGt>tAt	p.C606Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.C606Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	606	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGGATGTGTGTAAGCAACTG	0.368									Kartagener syndrome				5	37					0	0	0	0	A	21627788	G	A	21627788	3	1	189	1	0	0	0	0	1	0	0	0	4636	1377	48	4	1855	4	DNAH11	7	21627788	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	13501948	21627788	137510875	65	33292											
URGCP	55665	broad.mit.edu	37	chr7	43918683	43918683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggtattcctggcatcagCattgagggcctgcaacttcc	8	11	11	11	0	1	1	1	1	0	0	3	1	3	1	3	3	3	4	3	3	2	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:43918683C>A	ENST00000336086.6	-	4	2486	c.250G>T	c.(250-252)Gct>Tct	p.A84S	URGCP_ENST00000453200.1_Missense_Mutation_p.A127S|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.A84S|URGCP_ENST00000447717.3_Missense_Mutation_p.A84S|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.A118S|URGCP_ENST00000443736.1_Missense_Mutation_p.A84S			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	127					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGGCATCAGCATTGAGGGCC	0.547													40	70					4.0492e-12	4.67559e-12	1	0	A	43918683	C	A	43918683	3	1	189	1	0	0	0	0	1	0	0	0	17122	710	25	4	2420	4	URGCP	7	43918683	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	22290895	43918683	115219980	66	33293											
GCK	2645	broad.mit.edu	37	chr7	44187278	44187278	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggtttgcagagctctcGtccaccaggcggtcatactc	6	9	12	14	3	2	1	1	0	1	1	5	1	3	1	3	4	3	3	3	4	1	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:44187278G>A	ENST00000403799.3	-	7	1303	c.834C>T	c.(832-834)gaC>gaT	p.D278D	GCK_ENST00000345378.2_Silent_p.D279D|GCK_ENST00000437084.1_Silent_p.D261D|GCK_ENST00000395796.3_Silent_p.D277D	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	278					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CAGAGCTCTCGTCCACCAGGC	0.687													36	38					0	0	0	0	A	44187278	G	A	44187278	2	1	189	1	0	0	0	0	0	0	0	1	6342	1136	40	1		1	GCK	7	44187278	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	268595	44187278	114951385	67	33294											
ZNF716	441234	broad.mit.edu	37	chr7	57522865	57522865	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaatgagatggtagccAaacacccaggtaggtgagag	16	5	14	6	0	0	3	0	2	0	3	0	6	0	3	2	3	2	2	2	3	4	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:57522865A>C	ENST00000420713.1	+	3	365	c.253A>C	c.(253-255)Aaa>Caa	p.K85Q		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GATGGTAGCCAAACACCCAGG	0.443													7	113					0	0	0	0	C	57522865	A	C	57522865	3	2	189	1	0	0	0	0	1	0	0	0	18214	131	5	5	263	5	ZNF716	7	57522865	Missense_Mutation	SNP	A	TCGA-CR-6491-01A-11D-1870-08	13335587	57522865	101615798	68	33295											
BAZ1B	9031	broad.mit.edu	37	chr7	72856543	72856543	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctacttcttctgtcttcGtcccctggactgtccaacgg	4	15	7	15	2	4	0	0	0	4	0	8	1	6	1	3	2	2	0	3	2	2	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:72856543G>A	ENST00000339594.4	-	19	4773	c.4435C>T	c.(4435-4437)Cga>Tga	p.R1479*	BAZ1B_ENST00000404251.1_Nonsense_Mutation_p.R1479*	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1479					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTGTCTTCGTCCCCTGGAC	0.597													8	187					0	0	0	0	A	72856543	G	A	72856543	4	1	189	1	0	0	0	0	0	1	0	0	1334	1153	40	1	20	1	BAZ1B	7	72856543	Nonsense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	15333678	72856543	86282120	69	33296											
CYP3A5	1577	broad.mit.edu	37	chr7	99264261	99264261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctttctctgcttcccGcctcaagtttctcaccaata	6	15	4	16	1	3	0	2	0	2	0	6	0	4	0	4	0	2	2	4	0	3	5			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:99264261G>A	ENST00000343703.5	-	7	840	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.R162W					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					TCTGCTTCCCGCCTCAAGTTT	0.493													11	191					0	0	0	0	A	99264261	G	A	99264261	3	1	189	1	0	0	0	0	1	0	0	0	4212	1086	38	1	1056	1	CYP3A5	7	99264261	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	26407718	99264261	59874402	70	33297											
TES	26136	broad.mit.edu	37	chr7	115892374	115892374	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttatcttcttcctagctGatattcagcaatgagtatac	10	18	5	8	0	3	2	1	2	2	0	4	2	4	2	1	0	3	3	1	0	6	10			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:115892374G>A	ENST00000358204.4	+	6	1136	c.921G>A	c.(919-921)ctG>ctA	p.L307L	TES_ENST00000393481.2_Silent_p.L298L|TES_ENST00000537767.1_Silent_p.L65L|AC073130.3_ENST00000444244.1_RNA|AC002066.1_ENST00000446355.2_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	307	LIM zinc-binding 2.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			CTTCCTAGCTGATATTCAGCA	0.348													8	58					0	0	0	0	A	115892374	G	A	115892374	2	1	189	1	0	0	0	0	0	0	0	1	15859	1277	45	2		2	TES	7	115892374	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	16628113	115892374	43246289	71	33298											
PTPRZ1	5803	broad.mit.edu	37	chr7	121616905	121616905	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaagtgttagtcgttttGgtaagctacttggggaacta	10	14	12	5	2	0	0	0	0	0	0	2	2	0	1	0	3	3	4	0	3	6	7			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:121616905G>T	ENST00000393386.2	+	6	1030	c.619_splice	c.e6+1	p.G207_splice	PTPRZ1_ENST00000449182.1_Splice_Site_p.G207_splice	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	207	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGTCGTTTTGGTAAGCTACT	0.353													7	57					1.12685e-05	1.22662e-05	1	0	T	121616905	G	T	121616905	5	4	189	1	0	0	0	0	0	0	1	0	12896	1362	47	4	641	4	PTPRZ1	7	121616905	Splice_Site	SNP	G	TCGA-CR-6491-01A-11D-1870-08	5724531	121616905	37521758	72	33299											
C8orf58	541565	broad.mit.edu	37	chr8	22460089	22460089	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggtcaaggtcctgctcAaccggatctgccggagaagc	11	6	12	12	2	3	1	2	0	1	1	4	3	4	2	3	4	4	1	3	4	4	0			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:22460089A>G	ENST00000409586.3	+	6	1015	c.895A>G	c.(895-897)Aac>Gac	p.N299D	C8orf58_ENST00000289989.5_Missense_Mutation_p.N307D	NM_001013842.2|NM_001198827.1|NM_173686.2	NP_001013864.1|NP_001185756.1|NP_775957.2	Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	307										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GGTCCTGCTCAACCGGATCTG	0.662													12	27					0	0	0	0	G	22460089	A	G	22460089	3	3	189	1	0	0	0	0	1	0	0	0	2458	130	5	5	941	5	C8orf58	8	22460089	Missense_Mutation	SNP	A	TCGA-CR-6491-01A-11D-1870-08		22460089	123903933	73	33300											
EPHX2	2053	broad.mit.edu	37	chr8	27401308	27401308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggcggagaaggacttcGtgctcgttcctcagatgtcc	7	10	12	12	4	2	2	2	0	0	2	6	4	4	3	2	3	1	2	2	3	1	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:27401308G>A	ENST00000521400.1	+	17	1922	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	EPHX2_ENST00000518379.1_Missense_Mutation_p.V466M|EPHX2_ENST00000517536.1_Missense_Mutation_p.V315M|EPHX2_ENST00000380476.3_Missense_Mutation_p.V445M|EPHX2_ENST00000521780.1_Missense_Mutation_p.V432M	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	498	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GAAGGACTTCGTGCTCGTTCC	0.612													6	54					0	0	0	0	A	27401308	G	A	27401308	3	1	189	1	0	0	0	0	1	0	0	0	5218	1145	40	1	1558	1	EPHX2	8	27401308	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	4941219	27401308	118962714	74	33301											
ELP3	55140	broad.mit.edu	37	chr8	27964292	27964292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacatcagttttacaggaaaTatatgtgtgtaagtatggtg	13	14	10	4	0	1	0	1	0	0	0	1	1	1	1	0	2	1	3	0	2	6	6			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:27964292T>C	ENST00000537665.1	+	3	273	c.28T>C	c.(28-30)Tat>Cat	p.Y10H	ELP3_ENST00000380353.4_Silent_p.N15N|ELP3_ENST00000256398.8_Silent_p.N107N|ELP3_ENST00000521015.1_Silent_p.N93N|ELP3_ENST00000542181.1_5'UTR|ELP3_ENST00000524103.1_Silent_p.N35N|ELP3_ENST00000523760.1_3'UTR			Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	0				S -> G (in Ref. 1; BAA91600).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TTACAGGAAATATATGTGTGT	0.343													24	48					0	0	0	0	C	27964292	T	C	27964292	3	2	189	1	0	0	0	0	1	0	0	0	5119	1403	49	5	335	5	ELP3	8	27964292	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	562984	27964292	118399730	75	33302											
PKHD1L1	93035	broad.mit.edu	37	chr8	110476920	110476920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caatactgtccattctcaagGttggtttggaatgtggatct	9	15	10	7	0	2	0	1	0	2	0	4	2	3	2	1	4	1	2	1	4	4	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:110476920G>T	ENST00000378402.5	+	49	7963	c.7859G>T	c.(7858-7860)gGt>gTt	p.G2620V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2620					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATTCTCAAGGTTGGTTTGGA	0.418										HNSCC(38;0.096)			111	133					2.55716e-62	3.07153e-62	1	0	T	110476920	G	T	110476920	3	4	189	1	0	0	0	0	1	0	0	0	12044	1261	44	4	8053	4	PKHD1L1	8	110476920	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	82512628	110476920	35887102	76	33303											
MED30	90390	broad.mit.edu	37	chr8	118552171	118552171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaattatggatcaattacGaaatctcatctgggatataa	17	12	6	6	1	3	0	2	0	2	0	4	3	3	2	0	2	1	0	0	2	7	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:118552171G>A	ENST00000297347.3	+	4	655	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	MED30_ENST00000522839.1_Missense_Mutation_p.R129Q	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	164					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			GATCAATTACGAAATCTCATC	0.318													4	41					0	0	0	0	A	118552171	G	A	118552171	3	1	189	1	0	0	0	0	1	0	0	0	9517	1058	37	1	505	1	MED30	8	118552171	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	8075251	118552171	27811851	77	33304											
KCNQ3	3786	broad.mit.edu	37	chr8	133150233	133150233	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcctcaaagtctccttgaaTttttttttatagagacggaa	11	15	8	7	1	2	2	1	1	1	1	3	4	2	3	2	2	0	0	2	2	5	7			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:133150233T>A	ENST00000388996.4	-	12	2019	c.1599A>T	c.(1597-1599)aaA>aaT	p.K533N	KCNQ3_ENST00000519445.1_Missense_Mutation_p.K533N|KCNQ3_ENST00000521134.1_Missense_Mutation_p.K413N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	533					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCTCCTTGAATTTTTTTTTAT	0.453													55	107					0	0	0	0	A	133150233	T	A	133150233	3	1	189	1	0	0	0	0	1	0	0	0	8137	1490	52	5	1035	5	KCNQ3	8	133150233	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	14598062	133150233	13213789	78	33305											
COL22A1	169044	broad.mit.edu	37	chr8	139601575	139601575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagggtcacattggcctgggGgaccgggaggtcctgggagg	7	6	20	8	1	1	0	1	0	0	0	2	3	2	3	3	8	0	0	3	8	1	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:139601575G>A	ENST00000303045.6	-	65	5248	c.4802C>T	c.(4801-4803)cCc>cTc	p.P1601L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1581L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1601	Collagen-like 16.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGGCCTGGGGGACCGGGAGG	0.617										HNSCC(7;0.00092)			8	39					0	0	0	0	A	139601575	G	A	139601575	3	1	189	1	0	0	0	0	1	0	0	0	3711	1232	43	4	82	4	COL22A1	8	139601575	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	6451342	139601575	6762447	79	33306											
IFNA6	3443	broad.mit.edu	37	chr9	21350758	21350758	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagagagattctcctcatTtgtgccaggagcatcatggt	12	11	10	8	0	3	2	2	0	1	2	4	4	3	3	2	2	2	1	2	2	2	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:21350758T>C	ENST00000380210.1	-	1	619	c.129A>G	c.(127-129)caA>caG	p.Q43Q		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	43					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TTCTCCTCATTTGTGCCAGGA	0.537													67	30					0	0	0	0	C	21350758	T	C	21350758	2	2	189	1	0	0	0	0	0	0	0	1	7594	1838	64	5		5	IFNA6	9	21350758	Silent	SNP	T	TCGA-CR-6491-01A-11D-1870-08		21350758	119862673	80	33307											
CDKN2A	1029	broad.mit.edu	37	chr9	21968243	21968243	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcaatcggggatgtcTgcagagggcagaaagaaaac	13	9	12	7	1	3	3	1	0	2	3	4	4	3	4	0	3	2	2	0	3	4	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:21968243T>C	ENST00000579755.1	-	3	793		c.e3-2		CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(7)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGGATGTCTGCAGAGGGCA	0.537		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			23	17					0	0	0	0	C	21968243	T	C	21968243	5	2	189	1	0	0	0	0	0	0	1	0	3190	1594	55	5	18	5	CDKN2A	9	21968243	Splice_Site	SNP	T	TCGA-CR-6491-01A-11D-1870-08	617485	21968243	119245188	81	33308											
POLR1E	64425	broad.mit.edu	37	chr9	37486777	37486777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaacaaagattccaccaacCccaggaagaggaatcaacgg	18	3	9	11	1	1	3	1	0	0	3	2	5	2	5	4	3	3	0	4	3	6	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:37486777C>T	ENST00000377792.3	+	1	628	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	POLR1E_ENST00000377798.4_Missense_Mutation_p.P52S|POLR1E_ENST00000442009.2_5'UTR			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	114					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TTCCACCAACCCCAGGAAGAG	0.537													6	47					0	0	0	0	T	37486777	C	T	37486777	3	4	189	1	0	0	0	0	1	0	0	0	12285	623	22	4	160	4	POLR1E	9	37486777	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	15518534	37486777	103726654	82	33309											
CORO2A	7464	broad.mit.edu	37	chr9	100899882	100899882	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagaacaggaggcgatcTcaaaatcatcaaaagggttc	15	8	9	9	1	4	1	4	0	1	1	6	3	4	2	0	3	1	1	0	3	5	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:100899882T>A	ENST00000343933.5	-	3	547	c.290A>T	c.(289-291)gAg>gTg	p.E97V	CORO2A_ENST00000375077.4_Missense_Mutation_p.E97V	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	97					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGAGGCGATCTCAAAATCATC	0.542													51	122					0	0	0	0	A	100899882	T	A	100899882	3	1	189	1	0	0	0	0	1	0	0	0	3786	1551	54	5	1327	5	CORO2A	9	100899882	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	63413105	100899882	40313549	83	33310											
OR1N2	138882	broad.mit.edu	37	chr9	125315629	125315629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatggtggggaacctgCtcattatcctggccatcagc	8	10	10	13	0	3	0	3	0	0	0	4	1	4	1	4	4	3	1	4	4	2	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:125315629C>T	ENST00000373688.2	+	1	239	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GGGGAACCTGCTCATTATCCT	0.522													11	167					0	0	0	0	T	125315629	C	T	125315629	3	4	189	1	0	0	0	0	1	0	0	0	11041	797	28	4	183	4	OR1N2	9	125315629	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	24415747	125315629	15897802	84	33311											
PBX3	5090	broad.mit.edu	37	chr9	128723127	128723127	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcccaccacaccaaattcCggtgcgtactgggggctcgc	7	7	11	16	4	0	0	0	0	0	0	3	0	1	0	4	3	2	2	4	3	2	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:128723127C>T	ENST00000373487.4	+	7	1151	c.1072_splice	c.e7+1	p.S357_splice	PBX3_ENST00000373483.2_Splice_Site_p.S155_splice|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000447726.2_Splice_Site_p.S261_splice|PBX3_ENST00000342287.5_Splice_Site_p.S336_splice|PBX3_ENST00000373489.5_Splice_Site_p.S336_splice			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	336					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						CACCAAATTCCGGTGCGTACT	0.587													3	19					0	0	0	0	T	128723127	C	T	128723127	5	4	189	1	0	0	0	0	0	0	1	0	11565	666	23	1	1030	1	PBX3	9	128723127	Splice_Site	SNP	C	TCGA-CR-6491-01A-11D-1870-08	3407498	128723127	12490304	85	33312											
UPF2	26019	broad.mit.edu	37	chr10	11994186	11994186	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcactgatcatgtaatctatAtcaataggaaatggatggtc	14	13	8	6	0	4	1	3	1	1	0	5	3	4	3	0	3	0	1	0	3	6	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:11994186A>G	ENST00000356352.2	-	14	3386	c.2913T>C	c.(2911-2913)gaT>gaC	p.D971D	UPF2_ENST00000397053.2_Silent_p.D971D|UPF2_ENST00000357604.5_Silent_p.D971D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	971	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TGTAATCTATATCAATAGGAA	0.348													38	55					0	0	0	0	G	11994186	A	G	11994186	2	3	189	1	0	0	0	0	0	0	0	1	17100	446	16	5		5	UPF2	10	11994186	Silent	SNP	A	TCGA-CR-6491-01A-11D-1870-08		11994186	123540561	86	33313											
CDC123	8872	broad.mit.edu	37	chr10	12238301	12238301	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggtacccgttcttccgAggcgttaccatcaagaggtg	7	10	13	11	4	2	1	1	0	1	1	3	2	3	1	3	3	2	3	3	3	3	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:12238301A>T	ENST00000281141.4	+	1	337	c.57A>T	c.(55-57)cgA>cgT	p.R19R	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Silent_p.R19R	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	19					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						CGTTCTTCCGAGGCGTTACCA	0.572													22	48					0	0	0	0	T	12238301	A	T	12238301	2	4	189	1	0	0	0	0	0	0	0	1	3084	291	11	5		5	CDC123	10	12238301	Silent	SNP	A	TCGA-CR-6491-01A-11D-1870-08	244115	12238301	123296446	87	33314											
SPAG6	9576	broad.mit.edu	37	chr10	22699991	22699991	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatagcaaagctcgacgacTttttgtaacaagtggtggcc	11	11	11	8	2	0	1	0	1	0	0	1	3	0	1	1	2	3	3	1	2	4	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:22699991T>A	ENST00000376603.2	+	10	1716	c.1574T>A	c.(1573-1575)cTt>cAt	p.L525H	SPAG6_ENST00000538630.1_Missense_Mutation_p.L424H|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Missense_Mutation_p.L449H|SPAG6_ENST00000376601.1_Missense_Mutation_p.L210H|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000313311.6_Intron			O75602	SPAG6_HUMAN	sperm associated antigen 6	449					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GCTCGACGACTTTTTGTAACA	0.378													25	32					0	0	0	0	A	22699991	T	A	22699991	3	1	189	1	0	0	0	0	1	0	0	0	15072	1609	56	5	1384	5	SPAG6	10	22699991	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	10461690	22699991	112834756	88	33315											
WAC	51322	broad.mit.edu	37	chr10	28872436	28872436	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcaaaacttcagatgcagTaagtattataaacatgtcca	18	10	6	7	0	1	1	1	0	0	1	2	1	2	1	1	0	4	4	1	0	8	5			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:28872436T>G	ENST00000375664.3	+	4	855		c.e4+2		WAC_ENST00000347934.4_Splice_Site|WAC_ENST00000375646.1_Splice_Site|WAC_ENST00000428935.1_Splice_Site|WAC_ENST00000354911.4_Splice_Site			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCAGATGCAGTAAGTATTATA	0.313													49	84					0	0	0	0	G	28872436	T	G	28872436	5	3	189	1	0	0	0	0	0	0	1	0	17343	1652	57	5	397	5	WAC	10	28872436	Splice_Site	SNP	T	TCGA-CR-6491-01A-11D-1870-08	6172445	28872436	106662311	89	33316											
IPMK	253430	broad.mit.edu	37	chr10	60027245	60027245	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcacgcagccgttgaGgaagcggagtctgccgcccg	7	4	18	12	5	1	1	0	1	1	0	1	4	1	3	3	4	3	3	3	4	1	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:60027245G>C	ENST00000373935.3	-	1	449	c.127C>G	c.(127-129)Ctc>Gtc	p.L43V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	43						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CAGCCGTTGAGGAAGCGGAGT	0.701													12	17					0	0	0	0	C	60027245	G	C	60027245	3	2	189	1	0	0	0	0	1	0	0	0	7845	1000	35	4	1147	4	IPMK	10	60027245	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	31154809	60027245	75507502	90	33317											
TSPAN14	81619	broad.mit.edu	37	chr10	82269158	82269158	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccggttccgggagttcttCgagagcaacatcaagtccta	10	9	11	11	3	2	1	1	0	1	1	5	4	4	2	3	2	2	3	3	2	3	4	rs145582053	byFrequency	TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:82269158C>T	ENST00000429989.2	+	5	604	c.381C>T	c.(379-381)ttC>ttT	p.F127F	TSPAN14_ENST00000372158.1_Silent_p.F127F|TSPAN14_ENST00000372164.3_Silent_p.F110F|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372156.1_Silent_p.F127F|TSPAN14_ENST00000341863.6_Intron	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	127						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			GGGAGTTCTTCGAGAGCAACA	0.582													6	51					0	0	0	0	T	82269158	C	T	82269158	2	4	189	1	0	0	0	0	0	0	0	1	16733	883	31	1		1	TSPAN14	10	82269158	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08	22241913	82269158	53265589	91	33318											
HTR7	3363	broad.mit.edu	37	chr10	92508650	92508650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcttcagggcttcatgcatgCctgcagctgagagcttccgg	6	10	13	12	1	2	1	2	1	0	1	3	2	3	1	2	2	5	6	2	2	0	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:92508650C>A	ENST00000371721.3	-	2	1483	c.1241G>T	c.(1240-1242)gGc>gTc	p.G414V	HTR7_ENST00000371719.2_Missense_Mutation_p.G414V|HTR7_ENST00000277874.6_Missense_Mutation_p.G414V|HTR7_ENST00000336152.3_Missense_Mutation_p.G414V			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	414					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TTCATGCATGCCTGCAGCTGA	0.498													7	145					8.12818e-05	8.80202e-05	1	0	A	92508650	C	A	92508650	3	1	189	1	0	0	0	0	1	0	0	0	7505	739	26	4	214	4	HTR7	10	92508650	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	10239492	92508650	43026097	92	33319											
RRP12	23223	broad.mit.edu	37	chr10	99123620	99123620	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactactcacattcctgatGatcacatcttccattgggtc	10	13	6	12	0	3	2	2	2	1	0	6	3	5	2	2	1	2	0	2	1	2	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:99123620G>A	ENST00000370992.4	-	30	3669	c.3558C>T	c.(3556-3558)atC>atT	p.I1186I	RRP12_ENST00000315563.6_Silent_p.I1086I|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Silent_p.I1125I|RRP12_ENST00000536831.1_Silent_p.I904I	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1186						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CATTCCTGATGATCACATCTT	0.542													5	120					0	0	0	0	A	99123620	G	A	99123620	2	1	189	1	0	0	0	0	0	0	0	1	13771	1280	45	2		2	RRP12	10	99123620	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	6614970	99123620	36411127	93	33320											
HPSE2	60495	broad.mit.edu	37	chr10	100503694	100503694	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctggcgctgtacttcaacaGactcagggcactagaactgt	10	9	11	11	1	2	2	2	0	0	2	2	2	2	2	0	2	3	4	0	2	4	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:100503694G>A	ENST00000370552.3	-	4	789	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	HPSE2_ENST00000370546.1_Silent_p.L244L|HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	244					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TACTTCAACAGACTCAGGGCA	0.418													19	42					0	0	0	0	A	100503694	G	A	100503694	2	1	189	1	0	0	0	0	0	0	0	1	7395	933	33	2		2	HPSE2	10	100503694	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	1380074	100503694	35031053	94	33321											
FANK1	92565	broad.mit.edu	37	chr10	127677183	127677183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgctgtacagatttcgcctGaaggtcaccagcccctctgg	8	9	10	14	2	2	2	1	1	1	1	3	2	2	2	4	2	2	2	4	2	2	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:127677183G>A	ENST00000368695.1	+	3	359	c.237G>A	c.(235-237)ctG>ctA	p.L79L	FANK1_ENST00000368693.1_Silent_p.L85L|FANK1_ENST00000368689.1_Silent_p.L79L|FANK1_ENST00000449042.2_Silent_p.L79L	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	85	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GATTTCGCCTGAAGGTCACCA	0.517													8	184					0	0	0	0	A	127677183	G	A	127677183	2	1	189	1	0	0	0	0	0	0	0	1	5717	1277	45	2		2	FANK1	10	127677183	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	27173489	127677183	7857564	95	33322											
MUC5B	727897	broad.mit.edu	37	chr11	1261590	1261590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcaccaccgcctgggtcCcccactccacgacaagtaag	9	6	7	19	2	1	0	1	0	0	0	3	1	3	0	7	1	0	1	7	1	2	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:1261590C>T	ENST00000447027.1	+	30	4022	c.3964C>T	c.(3964-3966)Ccc>Tcc	p.P1322S	MUC5B_ENST00000529681.1_Missense_Mutation_p.P1319S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1319					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCCTGGGTCCCCCACTCCAC	0.617													22	37					0	0	0	0	T	1261590	C	T	1261590	3	4	189	1	0	0	0	0	1	0	0	0	10049	623	22	4	4082	4	MUC5B	11	1261590	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08		1261590	133744926	96	33323											
NLRP14	338323	broad.mit.edu	37	chr11	7081273	7081273	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgatgtctttcggcatccaAgctgtaatcttcaggacttg	8	14	10	9	1	3	1	1	1	2	0	5	2	4	2	1	2	1	3	1	2	2	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:7081273A>T	ENST00000299481.4	+	9	3128	c.2782A>T	c.(2782-2784)Agc>Tgc	p.S928C		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	928					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TCGGCATCCAAGCTGTAATCT	0.433													60	115					0	0	0	0	T	7081273	A	T	7081273	3	4	189	1	0	0	0	0	1	0	0	0	10546	72	3	5	2812	5	NLRP14	11	7081273	Missense_Mutation	SNP	A	TCGA-CR-6491-01A-11D-1870-08	5819683	7081273	127925243	97	33324											
EIF4G2	1982	broad.mit.edu	37	chr11	10825924	10825924	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcagacatagctgagcataCagtgagctatactttggctc	11	10	10	10	1	0	3	0	2	0	1	1	3	0	3	0	1	5	5	0	1	4	5			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:10825924C>A	ENST00000526148.1	-	6	903	c.393G>T	c.(391-393)ctG>ctT	p.L131L	EIF4G2_ENST00000396525.2_Silent_p.L131L|EIF4G2_ENST00000525681.1_Silent_p.L131L|EIF4G2_ENST00000339995.5_Silent_p.L131L	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	131	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCTGAGCATACAGTGAGCTAT	0.443													37	76					9.8876e-21	1.16096e-20	1	0	A	10825924	C	A	10825924	2	1	189	1	0	0	0	0	0	0	0	1	5075	465	17	4		4	EIF4G2	11	10825924	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08	3744651	10825924	124180592	98	33325											
NAV2	89797	broad.mit.edu	37	chr11	20117234	20117237	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															ttaggattccagaccacatcTctttcttattggctgcattg																								rs34775480	byFrequency	TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:20117234_20117237delTCTT	ENST00000396085.1	+	31	6303_6306	c.5942_5945delTCTT	c.(5941-5946)ctfs	p.LF1981fs	NAV2_ENST00000533917.1_Frame_Shift_Del_p.LF1042fs|NAV2_ENST00000311043.8_Frame_Shift_Del_p.LF1042fs|NAV2_ENST00000540292.1_Frame_Shift_Del_p.LF1968fs|NAV2_ENST00000360655.4_Frame_Shift_Del_p.LF1914fs|NAV2_ENST00000396087.3_Frame_Shift_Del_p.LF2037fs|NAV2_ENST00000349880.4_Frame_Shift_Del_p.LF1978fs|NAV2_ENST00000527559.2_Frame_Shift_Del_p.LF1966fs	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2037						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGACCACATCTCTTTCTTATTGGC	0.461													72	151	---	---	---	---					-	20117237	TCTT	-	20117234	7	5	189	1	0	1	0	1	0	0	0	0	10254	1551	54	0	6169	0	NAV2	11	20117234	Frame_Shift_Del	DEL	TCTT	TCGA-CR-6491-01A-11D-1870-08	9291310	20117234	114889282	99	33326											
LRRC4C	57689	broad.mit.edu	37	chr11	40137567	40137567	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgcttgaagctgttcacTttgatgatctggatttggtt	8	17	11	5	0	2	3	1	3	1	0	2	4	2	4	0	2	2	4	0	2	2	5			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:40137567T>A	ENST00000278198.2	-	2	2239	c.276A>T	c.(274-276)aaA>aaT	p.K92N	LRRC4C_ENST00000530763.1_Missense_Mutation_p.K92N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.K92N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.K92N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	92					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGCTGTTCACTTTGATGATCT	0.473													15	49					0	0	0	0	A	40137567	T	A	40137567	3	1	189	1	0	0	0	0	1	0	0	0	9072	1606	56	5	1650	5	LRRC4C	11	40137567	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	20020333	40137567	94868949	100	33327											
ACCSL	390110	broad.mit.edu	37	chr11	44073208	44073208	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgttgtcttcaggtggtGgttctaaatggctgctgctc	5	16	13	7	0	3	0	1	0	2	0	4	0	3	0	0	4	2	5	0	4	2	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:44073208G>A	ENST00000378832.1	+	5	767	c.711G>A	c.(709-711)gtG>gtA	p.V237V		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	237							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TTCAGGTGGTGGTTCTAAATG	0.517													5	209					0	0	0	0	A	44073208	G	A	44073208	2	1	189	1	0	0	0	0	0	0	0	1	134	1335	47	4		4	ACCSL	11	44073208	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	3935641	44073208	90933308	101	33328											
CNTN5	53942	broad.mit.edu	37	chr11	100064359	100064359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaaggacagcctattgatttCgaggaagagggtggacattt	13	10	13	5	1	0	2	0	1	0	1	1	6	0	5	1	4	1	0	1	4	3	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:100064359C>G	ENST00000524871.1	+	15	2138	c.1848C>G	c.(1846-1848)ttC>ttG	p.F616L	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.F616L|CNTN5_ENST00000418526.2_Missense_Mutation_p.F542L|CNTN5_ENST00000527185.1_Missense_Mutation_p.F616L|CNTN5_ENST00000279463.3_Missense_Mutation_p.F616L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	616	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTATTGATTTCGAGGAAGAGG	0.373													6	311					0	0	0	0	G	100064359	C	G	100064359	3	3	189	1	0	0	0	0	1	0	0	0	3674	883	31	3	1898	3	CNTN5	11	100064359	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	55991151	100064359	34942157	102	33329											
SLC6A13	6540	broad.mit.edu	37	chr12	336790	336790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtcaggcacccaagacaGatggcgaaggagaagaatat	15	5	13	8	1	1	4	1	0	0	4	1	6	1	4	1	3	0	2	1	3	5	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:336790G>A	ENST00000343164.4	-	8	928	c.876C>T	c.(874-876)atC>atT	p.I292I	SLC6A13_ENST00000445055.2_Silent_p.I200I	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	292					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACCCAAGACAGATGGCGAAGG	0.562													6	47					0	0	0	0	A	336790	G	A	336790	2	1	189	1	0	0	0	0	0	0	0	1	14764	932	33	2		2	SLC6A13	12	336790	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08		336790	133515105	103	33330											
NOP2	4839	broad.mit.edu	37	chr12	6666180	6666180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagatagcagcagctggctGttgcccctggactgagattt	9	11	12	9	0	0	2	0	1	0	2	0	4	0	3	2	2	4	5	2	2	2	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:6666180G>C	ENST00000541778.1	-	16	2894	c.2406C>G	c.(2404-2406)aaC>aaG	p.N802K	NOP2_ENST00000399466.2_Missense_Mutation_p.N802K|NOP2_ENST00000545200.1_3'UTR|NOP2_ENST00000322166.5_Missense_Mutation_p.N806K|NOP2_ENST00000537442.1_Missense_Mutation_p.N806K|NOP2_ENST00000382421.3_Missense_Mutation_p.N839K			P46087	NOP2_HUMAN	NOP2 nucleolar protein	806					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GCAGCTGGCTGTTGCCCCTGG	0.557													18	32					0	0	0	0	C	6666180	G	C	6666180	3	2	189	1	0	0	0	0	1	0	0	0	10608	1368	48	4	24	4	NOP2	12	6666180	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	6329390	6666180	127185715	104	33331											
LPCAT3	10162	broad.mit.edu	37	chr12	7086775	7086775	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctacctgtctttccacaatAacaatgaggaattccatctg	12	12	5	12	0	2	1	0	1	2	0	4	2	4	2	4	1	2	0	4	1	5	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:7086775A>T	ENST00000261407.4	-	10	1258	c.1173T>A	c.(1171-1173)gtT>gtA	p.V391V	U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_Intron	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	391					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TTTCCACAATAACAATGAGGA	0.547													47	63					0	0	0	0	T	7086775	A	T	7086775	2	4	189	1	0	0	0	0	0	0	0	1	8976	349	13	5		5	LPCAT3	12	7086775	Silent	SNP	A	TCGA-CR-6491-01A-11D-1870-08	420595	7086775	126765120	105	33332											
GALNT6	11226	broad.mit.edu	37	chr12	51773260	51773260	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgtggtggccgttcccaGaagggcttcagttcagctgg	5	11	14	11	1	2	1	2	0	0	1	4	1	4	1	3	4	1	4	3	4	1	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:51773260G>A	ENST00000543196.2	-	2	511	c.306C>T	c.(304-306)ttC>ttT	p.F102F	GALNT6_ENST00000356317.3_Silent_p.F102F			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	102					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCCGTTCCCAGAAGGGCTTCA	0.567													5	118					0	0	0	0	A	51773260	G	A	51773260	2	1	189	1	0	0	0	0	0	0	0	1	6266	933	33	2		2	GALNT6	12	51773260	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	44686485	51773260	82078635	106	33333											
ESYT1	23344	broad.mit.edu	37	chr12	56532256	56532257	+	In_Frame_Ins	INS	-	-	TATATGGAG																															ctgcggccctgctatccatcINStatatggagcgggcagagga																										TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:56532256_56532257insTATATGGAG	ENST00000394048.5	+	22	2670_2671	c.2406_2407insTATATGGAG	c.(2404-2409)atatat>atTATATGGAGatat	p.802_803IY>IIWRY	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000267113.4_In_Frame_Ins_p.812_813IY>IIWRY|ESYT1_ENST00000541590.1_In_Frame_Ins_p.812_813IY>IIWRY	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	802	C2 4.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGCTATCCATCTATATGGAGCG	0.609													5	7	---	---	---	---					TATATGGAG	56532257	-	TATATGGAG	56532256	7	5	189	1	0	1	1	0	0	0	0	0	5302	903	32	0	2522	0	ESYT1	12	56532256	In_Frame_Ins	INS	-	TCGA-CR-6491-01A-11D-1870-08	4758996	56532256	77319639	107	33334											
NACA	4666	broad.mit.edu	37	chr12	57113764	57113764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaatactgaactggggagaTttttgaggtcttcagggtct	9	13	12	7	0	3	3	1	2	2	1	3	4	3	3	1	4	2	0	1	4	3	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:57113764T>C	ENST00000454682.1	-	3	1831	c.1550A>G	c.(1549-1551)aAt>aGt	p.N517S	NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.N517S|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ACTGGGGAGATTTTTGAGGTC	0.498			T	BCL6	NHL								31	60					0	0	0	0	C	57113764	T	C	57113764	3	2	189	1	0	0	0	0	1	0	0	0	10203	1493	52	5	4714	5	NACA	12	57113764	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	581508	57113764	76738131	108	33335											
SDR9C7	121214	broad.mit.edu	37	chr12	57317740	57317740	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggttgtagcggatgcgAgggctccgggaaacaatagc	10	6	16	9	3	0	0	0	0	0	0	1	3	1	2	2	4	4	3	2	4	4	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:57317740A>G	ENST00000293502.1	-	4	962	c.819T>C	c.(817-819)ccT>ccC	p.P273P		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	273						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AGCGGATGCGAGGGCTCCGGG	0.507													4	88					0	0	0	0	G	57317740	A	G	57317740	2	3	189	1	0	0	0	0	0	0	0	1	14061	291	11	5		5	SDR9C7	12	57317740	Silent	SNP	A	TCGA-CR-6491-01A-11D-1870-08	203976	57317740	76534155	109	33336											
MBD6	114785	broad.mit.edu	37	chr12	57919712	57919712	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcaccccccttccttgctAgcagcctactctctgcagcg	5	9	9	18	1	1	0	0	0	1	0	3	0	2	0	5	1	6	4	5	1	2	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:57919712A>T	ENST00000355673.3	+	6	1317	c.961A>T	c.(961-963)Agc>Tgc	p.S321C	MBD6_ENST00000431731.2_Missense_Mutation_p.S321C	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	321	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTTCCTTGCTAGCAGCCTACT	0.692													15	27					0	0	0	0	T	57919712	A	T	57919712	3	4	189	1	0	0	0	0	1	0	0	0	9417	420	15	5	975	5	MBD6	12	57919712	Missense_Mutation	SNP	A	TCGA-CR-6491-01A-11D-1870-08	601972	57919712	75932183	110	33337											
ACACB	32	broad.mit.edu	37	chr12	109678918	109678918	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctacatggttatgcgctaCggcagccggctgtggaaact	8	9	13	11	4	0	0	0	0	0	0	0	1	0	1	1	4	5	5	1	4	4	3	rs147718391		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:109678918C>T	ENST00000338432.7	+	36	4973	c.4854C>T	c.(4852-4854)taC>taT	p.Y1618Y	ACACB_ENST00000377854.5_Silent_p.Y1548Y|ACACB_ENST00000543201.1_Silent_p.Y284Y|ACACB_ENST00000377848.3_Silent_p.Y1618Y			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1618					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTATGCGCTACGGCAGCCGGC	0.562													4	81					0	0	0	0	T	109678918	C	T	109678918	2	4	189	1	0	0	0	0	0	0	0	1	107	547	19	1		1	ACACB	12	109678918	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08	51759206	109678918	24172977	111	33338											
ATXN2	6311	broad.mit.edu	37	chr12	111948230	111948230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgttcgatgcaggactaGcaggcgtaggagatgcagct	9	9	14	9	2	1	1	0	0	1	1	2	4	1	2	0	3	4	6	0	3	2	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:111948230G>T	ENST00000377617.3	-	12	2356	c.2195C>A	c.(2194-2196)gCt>gAt	p.A732D	ATXN2_ENST00000550104.1_Missense_Mutation_p.A732D|ATXN2_ENST00000542287.2_Missense_Mutation_p.A467D|ATXN2_ENST00000535949.1_Missense_Mutation_p.A443D|ATXN2_ENST00000389153.4_Missense_Mutation_p.A467D	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	732	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGCAGGACTAGCAGGCGTAGG	0.493													12	214					0.00136819	0.00145154	1	0	T	111948230	G	T	111948230	3	4	189	1	0	0	0	0	1	0	0	0	1215	971	34	4	1802	4	ATXN2	12	111948230	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	2269312	111948230	21903665	112	33339											
OAS1	4938	broad.mit.edu	37	chr12	113354483	113354483	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcatctactggacaaagtAttatgactttaaaaacccca	15	11	5	10	0	1	1	0	1	1	0	1	2	1	2	2	1	3	2	2	1	7	5			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:113354483A>G	ENST00000452357.2	+	4	1014	c.824A>G	c.(823-825)tAt>tGt	p.Y275C	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000202917.5_Missense_Mutation_p.Y275C|OAS1_ENST00000445409.2_Missense_Mutation_p.Y275C|OAS1_ENST00000551241.1_Missense_Mutation_p.Y275C	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	275					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TGGACAAAGTATTATGACTTT	0.443													39	46					0	0	0	0	G	113354483	A	G	113354483	3	3	189	1	0	0	0	0	1	0	0	0	10870	449	16	5	838	5	OAS1	12	113354483	Missense_Mutation	SNP	A	TCGA-CR-6491-01A-11D-1870-08	1406253	113354483	20497412	113	33340											
FBXO21	23014	broad.mit.edu	37	chr12	117627076	117627076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgaggctacaatcttccGcgcttctaacccagcttttt	9	12	7	13	3	2	0	0	0	2	0	3	2	3	0	2	1	4	3	2	1	4	6			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:117627076G>A	ENST00000427718.2	-	2	405	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	FBXO21_ENST00000330622.5_Missense_Mutation_p.R111W	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	111					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ACAATCTTCCGCGCTTCTAAC	0.483													4	96					0	0	0	0	A	117627076	G	A	117627076	3	1	189	1	0	0	0	0	1	0	0	0	5778	1086	38	1	1599	1	FBXO21	12	117627076	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	4272593	117627076	16224819	114	33341											
GLT1D1	144423	broad.mit.edu	37	chr12	129360459	129360459	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctgtattttttgataaagGgcccatctagaggctgcagg	9	13	11	8	0	2	2	0	1	2	1	2	2	2	2	1	3	1	3	1	3	4	6			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:129360459G>A	ENST00000442111.2	+	2	157	c.68_splice	c.e2-1	p.R23_splice	GLT1D1_ENST00000281703.6_Splice_Site_p.R23_splice|GLT1D1_ENST00000537468.1_Splice_Site_p.L12_splice|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	23					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TTTGATAAAGGGCCCATCTAG	0.418													55	96					0	0	0	0	A	129360459	G	A	129360459	5	1	189	1	0	0	0	0	0	0	1	0	6516	1246	43	4	75	4	GLT1D1	12	129360459	Splice_Site	SNP	G	TCGA-CR-6491-01A-11D-1870-08	11733383	129360459	4491436	115	33342											
EP400	57634	broad.mit.edu	37	chr12	132446187	132446187	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactcacgtctgtggggaaCacgggaatgaagaaggttcc	11	7	13	10	2	2	2	1	1	1	1	3	4	3	4	2	4	1	1	2	4	4	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:132446187C>A	ENST00000333577.4	+	2	1132	c.1023C>A	c.(1021-1023)aaC>aaA	p.N341K	EP400_ENST00000332482.4_Missense_Mutation_p.N341K|EP400_ENST00000389562.2_Missense_Mutation_p.N341K|EP400_ENST00000330386.6_Missense_Mutation_p.N341K|EP400_ENST00000389561.2_Missense_Mutation_p.N341K			Q96L91	EP400_HUMAN	E1A binding protein p400	341					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTGTGGGGAACACGGGAATGA	0.612													8	10					1.58986e-06	1.7581e-06	1	0	A	132446187	C	A	132446187	3	1	189	1	0	0	0	0	1	0	0	0	5187	477	17	4	1025	4	EP400	12	132446187	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	3085728	132446187	1405708	116	33343											
FNDC3A	22862	broad.mit.edu	37	chr13	49762701	49762701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaccagggaacatctttgtGatcgactgaatccaggctgt	10	11	10	10	1	1	2	0	2	1	0	3	4	2	3	2	2	2	1	2	2	3	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr13:49762701G>C	ENST00000492622.2	+	17	2181	c.1876G>C	c.(1876-1878)Gat>Cat	p.D626H	FNDC3A_ENST00000541916.1_Missense_Mutation_p.D626H|FNDC3A_ENST00000398316.3_Missense_Mutation_p.D570H	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	626	Fibronectin type-III 4.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACATCTTTGTGATCGACTGAA	0.393													7	171					0	0	0	0	C	49762701	G	C	49762701	3	2	189	1	0	0	0	0	1	0	0	0	6014	1290	45	2	1949	2	FNDC3A	13	49762701	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08		49762701	65407177	117	33344											
ATP7B	540	broad.mit.edu	37	chr13	52536026	52536026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttggggtttctctgggcCagggaagcatgaaagccaat	9	9	15	8	1	1	1	0	1	1	0	2	2	1	2	2	4	2	3	2	4	3	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr13:52536026C>T	ENST00000242839.4	-	6	2049	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L	ATP7B_ENST00000448424.2_Silent_p.L631L|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400366.3_Silent_p.L520L|ATP7B_ENST00000417240.2_5'UTR|ATP7B_ENST00000418097.2_Silent_p.L631L|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	631	HMA 6.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TTCTCTGGGCCAGGGAAGCAT	0.433									Wilson disease				12	43					0	0	0	0	T	52536026	C	T	52536026	2	4	189	1	0	0	0	0	0	0	0	1	1195	581	21	4		4	ATP7B	13	52536026	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08	2773325	52536026	62633852	118	33345											
SLITRK5	26050	broad.mit.edu	37	chr13	88329424	88329424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaggtgatctgtaaggCgcccaaaaaattcgctgaga	13	7	13	8	3	1	2	0	2	1	1	2	5	1	3	1	3	0	2	1	3	4	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr13:88329424C>T	ENST00000325089.6	+	2	2000	c.1781C>T	c.(1780-1782)gCg>gTg	p.A594V	SLITRK5_ENST00000400028.3_Missense_Mutation_p.A353V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	594	LRRCT 2.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATCTGTAAGGCGCCCAAAAAA	0.532													23	136					0	0	0	0	T	88329424	C	T	88329424	3	4	189	1	0	0	0	0	1	0	0	0	14834	768	27	1	1783	1	SLITRK5	13	88329424	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	35793398	88329424	26840454	119	33346											
TMTC4	84899	broad.mit.edu	37	chr13	101287320	101287320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggctccgaatccaaaagtCagcagcacacagtacccaac	15	4	8	14	1	1	0	1	0	0	0	3	1	3	0	3	1	4	4	3	1	5	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr13:101287320C>T	ENST00000342624.5	-	11	1590	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Silent_p.L425L|TMTC4_ENST00000328767.5_Silent_p.L314L	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	425						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATCCAAAAGTCAGCAGCACAC	0.527													24	40					0	0	0	0	T	101287320	C	T	101287320	2	4	189	1	0	0	0	0	0	0	0	1	16357	813	29	2		2	TMTC4	13	101287320	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08	12957896	101287320	13882558	120	33347											
TMCO3	55002	broad.mit.edu	37	chr13	114152804	114152804	+	Frame_Shift_Del	DEL	A	A	-																															cggatcgtctggaggaagagAtagaggaacatgcttttgac																								rs143854308		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr13:114152804delA	ENST00000434316.2	+	3	951	c.592delA	c.(592-594)tafs	p.I198fs	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Frame_Shift_Del_p.I198fs	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	198						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GGAGGAAGAGATAGAGGAACA	0.418													31	66	---	---	---	---					-	114152804	A	-	114152804	7	5	189	1	0	1	0	1	0	0	0	0	16091	333	12	0	598	0	TMCO3	13	114152804	Frame_Shift_Del	DEL	A	TCGA-CR-6491-01A-11D-1870-08	12865484	114152804	1017074	121	33348											
RALGAPA1	253959	broad.mit.edu	37	chr14	36103939	36103939	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggattgctaaaacactgagCtccataaacacacccatgta	15	9	6	11	0	0	1	0	1	0	0	1	2	1	2	2	1	4	3	2	1	5	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr14:36103939C>A	ENST00000258840.6	-	33	4849	c.4459G>T	c.(4459-4461)Gct>Tct	p.A1487S	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.A1440S|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.A1440S|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.A1453S			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1440	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAACACTGAGCTCCATAAACA	0.343													7	45					5.18039e-06	5.6686e-06	1	0	A	36103939	C	A	36103939	3	1	189	1	0	0	0	0	1	0	0	0	13095	797	28	4	1981	4	RALGAPA1	14	36103939	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08		36103939	71245601	122	33349											
PSMC6	5706	broad.mit.edu	37	chr14	53177865	53177865	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagagttgctttggataTgactacactaactatcatga	15	12	7	7	0	1	3	1	2	0	1	1	4	1	4	0	1	4	2	0	1	6	6			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr14:53177865T>A	ENST00000445930.2	+	5	353	c.347T>A	c.(346-348)aTg>aAg	p.M116K	PSMC6_ENST00000606149.1_Missense_Mutation_p.M102K			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	102					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GCTTTGGATATGACTACACTA	0.328													49	31					0	0	0	0	A	53177865	T	A	53177865	3	1	189	1	0	0	0	0	1	0	0	0	12770	1464	51	5	365	5	PSMC6	14	53177865	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	17073926	53177865	54171675	123	33350											
ANGEL1	23357	broad.mit.edu	37	chr14	77257651	77257652	+	Frame_Shift_Ins	INS	-	-	GGCT																															aaggttacctggagaaggcaINSggctcaagctccgatgcatc																										TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr14:77257651_77257652insGGCT	ENST00000251089.2	-	8	1788_1789	c.1676_1677insAGCC	c.(1675-1677)cgcfs	p.R559fs	ANGEL1_ENST00000557179.1_Frame_Shift_Ins_p.R124fs	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	559										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TGGAGAAGGCAGGCTCAAGCTC	0.505													28	63	---	---	---	---					GGCT	77257652	-	GGCT	77257651	7	5	189	1	0	1	1	0	0	0	0	0	608	175	7	0	347	0	ANGEL1	14	77257651	Frame_Shift_Ins	INS	-	TCGA-CR-6491-01A-11D-1870-08	24079786	77257651	30091889	124	33351											
TRIP11	9321	broad.mit.edu	37	chr14	92471192	92471192	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaactgatcaatctgtttaGttaaagatatattcttttca	14	17	4	6	0	4	2	2	1	2	1	4	2	4	2	0	0	1	2	0	0	7	8			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr14:92471192G>C	ENST00000267622.4	-	11	3501	c.3128C>G	c.(3127-3129)aCt>aGt	p.T1043S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1043					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AATCTGTTTAGTTAAAGATAT	0.318			T	PDGFRB	AML								23	35					0	0	0	0	C	92471192	G	C	92471192	3	2	189	1	0	0	0	0	1	0	0	0	16650	1029	36	4	2855	4	TRIP11	14	92471192	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	15213541	92471192	14878348	125	33352											
CEP152	22995	broad.mit.edu	37	chr15	49083442	49083442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaataggtacctgttcttCattgacttttaatgcttgta	11	18	6	6	0	2	1	1	1	1	0	2	1	2	1	1	1	2	4	1	1	6	10			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr15:49083442C>T	ENST00000380950.2	-	8	1151	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	CEP152_ENST00000399334.3_Missense_Mutation_p.E322K|CEP152_ENST00000325747.5_Missense_Mutation_p.E229K	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	322					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ACCTGTTCTTCATTGACTTTT	0.299													17	41					0	0	0	0	T	49083442	C	T	49083442	3	4	189	1	0	0	0	0	1	0	0	0	3277	835	29	2	4076	2	CEP152	15	49083442	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08		49083442	53447950	126	33353											
WDR72	256764	broad.mit.edu	37	chr15	53889439	53889439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtgttgttgaacttcCgccaagagaacagcttgtat	10	14	9	8	1	1	2	1	1	0	1	2	3	2	2	2	0	3	4	2	0	4	6			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr15:53889439C>T	ENST00000396328.1	-	18	3224	c.2985G>A	c.(2983-2985)gcG>gcA	p.A995A	WDR72_ENST00000559418.1_Silent_p.A1005A|WDR72_ENST00000557913.1_Silent_p.A992A|WDR72_ENST00000360509.5_Silent_p.A995A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	995										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTGAACTTCCGCCAAGAGAA	0.378													9	148					0	0	0	0	T	53889439	C	T	53889439	2	4	189	1	0	0	0	0	0	0	0	1	17418	639	23	1		1	WDR72	15	53889439	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08	4805997	53889439	48641953	127	33354											
IQCH	64799	broad.mit.edu	37	chr15	67757466	67757466	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcctgttttaatcaggTgtgggcaaccggccttaacc	7	11	11	12	2	1	0	1	0	0	0	2	0	2	0	4	4	2	3	4	4	3	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr15:67757466T>C	ENST00000335894.4	+	17	2573	c.2505_splice	c.e17-1	p.V836_splice	IQCH_ENST00000358767.3_Splice_Site_p.V572_splice|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Splice_Site_p.V493_splice|IQCH_ENST00000360277.4_Splice_Site_p.V497_splice	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	836										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTTAATCAGGTGTGGGCAACC	0.517													5	80					0	0	0	0	C	67757466	T	C	67757466	5	2	189	1	0	0	0	0	0	0	1	0	7864	1710	59	5	2701	5	IQCH	15	67757466	Splice_Site	SNP	T	TCGA-CR-6491-01A-11D-1870-08	13868027	67757466	34773926	128	33355											
AKAP13	11214	broad.mit.edu	37	chr15	86201776	86201776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcattttcagttcaatgcGagttcttggggatgttgtca	8	17	10	6	1	5	0	4	0	1	0	5	2	5	1	0	2	1	3	0	2	1	7			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr15:86201776G>T	ENST00000394518.2	+	12	4849	c.4754G>T	c.(4753-4755)cGa>cTa	p.R1585L	AKAP13_ENST00000361243.2_Intron|AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1585					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGTTCAATGCGAGTTCTTGGG	0.433													6	131					0.00307968	0.00325077	1	0	T	86201776	G	T	86201776	3	4	189	1	0	0	0	0	1	0	0	0	449	1058	37	3	4796	3	AKAP13	15	86201776	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	18444310	86201776	16329616	129	33356											
NOXO1	124056	broad.mit.edu	37	chr16	2030459	2030459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccacgcgctctgcagtcgCcagcagcctccgagaatagg	8	6	12	15	4	1	1	0	0	1	1	3	2	2	1	4	1	4	3	4	1	2	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:2030459C>T	ENST00000354249.4	-	4	676	c.307G>A	c.(307-309)Gcg>Acg	p.A103T	NOXO1_ENST00000397280.4_Missense_Mutation_p.A109T|NOXO1_ENST00000566005.1_Missense_Mutation_p.A108T|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000356120.4_Missense_Mutation_p.A104T	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	109	PX.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						TCTGCAGTCGCCAGCAGCCTC	0.682													14	24					0	0	0	0	T	2030459	C	T	2030459	3	4	189	1	0	0	0	0	1	0	0	0	10631	739	26	4	825	4	NOXO1	16	2030459	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08		2030459	88324294	130	33357											
MMP25	64386	broad.mit.edu	37	chr16	3100445	3100445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacagctaccccttcgacGggttggggggcaccctagcc	7	6	14	14	2	0	0	0	0	0	0	1	2	0	1	4	5	3	3	4	5	2	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:3100445G>A	ENST00000336577.4	+	4	796	c.559G>A	c.(559-561)Ggg>Agg	p.G187R	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	187					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CCCCTTCGACGGGTTGGGGGG	0.612													8	41					0	0	0	0	A	3100445	G	A	3100445	3	1	189	1	0	0	0	0	1	0	0	0	9732	1116	39	1	573	1	MMP25	16	3100445	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	1069986	3100445	87254308	131	33358											
ACSM3	6296	broad.mit.edu	37	chr16	20781491	20781491	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttctccaactatgaatcCatgaaacaggacttcaaact	16	11	4	10	0	2	2	1	2	1	0	4	3	3	3	2	1	3	0	2	1	6	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:20781491C>T	ENST00000289416.5	+	2	610	c.135C>T	c.(133-135)tcC>tcT	p.S45S	ACSM3_ENST00000450120.2_5'UTR|ACSM3_ENST00000440284.2_Silent_p.S45S	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	45					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ACTATGAATCCATGAAACAGG	0.443													31	48					0	0	0	0	T	20781491	C	T	20781491	2	4	189	1	0	0	0	0	0	0	0	1	185	581	21	4		4	ACSM3	16	20781491	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08	17681046	20781491	69573262	132	33359											
LYRM1	57149	broad.mit.edu	37	chr16	20927015	20927015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactaaatgaagccagaacGctgttccggaaaaacaaaaa	20	6	7	8	2	0	2	0	1	0	1	1	3	1	3	2	1	4	2	2	1	9	3	rs138841536	by1000genomes	TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:20927015G>A	ENST00000396052.2	+	4	538	c.138G>A	c.(136-138)acG>acA	p.T46T	LYRM1_ENST00000219168.4_Silent_p.T46T|LYRM1_ENST00000568663.1_Silent_p.T46T|LYRM1_ENST00000567954.1_Silent_p.T46T|LYRM1_ENST00000439021.1_Silent_p.T46T|LYRM1_ENST00000412082.2_Intron|LYRM1_ENST00000569023.1_Silent_p.T46T|LYRM1_ENST00000562740.1_Intron			O43325	LYRM1_HUMAN	LYR motif containing 1	46						nucleus				large_intestine(1)|prostate(1)	2						AAGCCAGAACGCTGTTCCGGA	0.423													26	43					0	0	0	0	A	20927015	G	A	20927015	2	1	189	1	0	0	0	0	0	0	0	1	9184	1074	38	1		1	LYRM1	16	20927015	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	145524	20927015	69427738	133	33360											
GTF3C1	2975	broad.mit.edu	37	chr16	27476145	27476145	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctccagcacctgatgctGctccaggagggcctggggag	7	6	15	13	0	0	1	0	1	0	0	2	4	2	3	5	4	3	3	5	4	0	0			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:27476145G>A	ENST00000356183.4	-	34	5383	c.5368C>T	c.(5368-5370)Cag>Tag	p.Q1790*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.Q1790*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1790						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACCTGATGCTGCTCCAGGAGG	0.677													9	17					0	0	0	0	A	27476145	G	A	27476145	4	1	189	1	0	0	0	0	0	1	0	0	6922	1328	46	4	977	4	GTF3C1	16	27476145	Nonsense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	6549130	27476145	62878608	134	33361											
CHST5	23563	broad.mit.edu	37	chr16	75564112	75564112	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacacgatcctcgccgccGgctggggatgagggccctgg	5	6	16	14	4	0	1	0	1	0	0	2	3	1	2	4	5	1	2	4	5	0	0			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:75564112G>A	ENST00000336257.3	-	3	1565	c.171C>T	c.(169-171)gcC>gcT	p.A57A	CHST5_ENST00000541075.1_Silent_p.A63A|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	57					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CCTCGCCGCCGGCTGGGGATG	0.647													8	16					0	0	0	0	A	75564112	G	A	75564112	2	1	189	1	0	0	0	0	0	0	0	1	3436	1103	39	1		1	CHST5	16	75564112	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	48087967	75564112	14790641	135	33362											
GSG2	83903	broad.mit.edu	37	chr17	3627636	3627636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggcccgctccgacttcCgcccttccccagccgcgact	3	7	9	22	6	0	0	0	0	0	0	3	2	3	0	7	1	2	1	7	1	0	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:3627636C>T	ENST00000325418.4	+	1	426	c.407C>T	c.(406-408)cCg>cTg	p.P136L	ITGAE_ENST00000571185.1_5'UTR|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	136					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										CTCCGACTTCCGCCCTTCCCC	0.726													3	5					0	0	0	0	T	3627636	C	T	3627636	3	4	189	1	0	0	0	0	1	0	0	0	6872	652	23	1	409	1	GSG2	17	3627636	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08		3627636	77567574	136	33363											
TP53	7157	broad.mit.edu	37	chr17	7577572	7577572	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcaggaactgttacacaTgtagttgtagtggatggtgg	10	12	14	5	0	0	0	0	0	0	0	0	2	0	2	0	4	3	5	0	4	4	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:7577572T>C	ENST00000420246.2	-	7	841	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TP53_ENST00000269305.4_Missense_Mutation_p.M237V|TP53_ENST00000359597.4_Missense_Mutation_p.M237V|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.M237V|TP53_ENST00000445888.2_Missense_Mutation_p.M237V|TP53_ENST00000455263.2_Missense_Mutation_p.M237V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGTTACACATGTAGTTGTAG	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	54					0	0	0	0	C	7577572	T	C	7577572	3	2	189	1	0	0	0	0	1	0	0	0	16476	1464	51	5	581	5	TP53	17	7577572	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	3949936	7577572	73617638	137	33364											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	39					0	0	0	0	C	7578394	T	C	7578394	3	2	189	1	0	0	0	0	1	0	0	0	16476	1464	51	5	762	5	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	822	7578394	73616816	138	33365											
PFAS	5198	broad.mit.edu	37	chr17	8170154	8170154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgctgaagcgttacCgggatgctggcctccattgc	6	9	13	13	2	0	1	0	1	0	0	1	2	1	2	4	3	5	3	4	3	2	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:8170154C>G	ENST00000314666.6	+	23	3038	c.2905C>G	c.(2905-2907)Cgg>Ggg	p.R969G	PFAS_ENST00000545834.1_Missense_Mutation_p.R545G	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	969					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAAGCGTTACCGGGATGCTGG	0.662													15	28					0	0	0	0	G	8170154	C	G	8170154	3	3	189	1	0	0	0	0	1	0	0	0	11826	643	23	3	2991	3	PFAS	17	8170154	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	591760	8170154	73025056	139	33366											
DNAH9	1770	broad.mit.edu	37	chr17	11648369	11648369	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcgatagtggatctgAagctccaggctgaggacaac	12	6	15	8	1	1	2	0	2	1	0	2	6	2	5	1	5	2	2	1	5	4	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:11648369A>T	ENST00000262442.3	+	31	6435	c.6367A>T	c.(6367-6369)Aag>Tag	p.K2123*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.K2123*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2123	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTGGATCTGAAGCTCCAGGC	0.512													39	73					0	0	0	0	T	11648369	A	T	11648369	4	4	189	1	0	0	0	0	0	1	0	0	4644	247	9	5	6489	5	DNAH9	17	11648369	Nonsense_Mutation	SNP	A	TCGA-CR-6491-01A-11D-1870-08	3478215	11648369	69546841	140	33367											
GOSR1	9527	broad.mit.edu	37	chr17	28808253	28808253	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagttacagtcatagcagtAcccgagatggaagacgcgac	14	6	11	10	3	1	2	1	0	0	2	1	5	1	3	1	1	3	3	1	1	5	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:28808253A>T	ENST00000225724.5	+	2	196	c.124A>T	c.(124-126)Acc>Tcc	p.T42S	GOSR1_ENST00000579905.1_3'UTR|GOSR1_ENST00000451249.2_Missense_Mutation_p.T42S|GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000581721.1_Missense_Mutation_p.T42S	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	42					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						TCATAGCAGTACCCGAGATGG	0.373													27	47					0	0	0	0	T	28808253	A	T	28808253	3	4	189	1	0	0	0	0	1	0	0	0	6625	391	14	5	130	5	GOSR1	17	28808253	Missense_Mutation	SNP	A	TCGA-CR-6491-01A-11D-1870-08	17159884	28808253	52386957	141	33368											
ACACA	31	broad.mit.edu	37	chr17	35656257	35656257	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcctctggagaaccctccaTatcaagatgggaaaagaatg	14	9	9	9	0	2	3	1	0	1	3	4	5	4	4	3	2	1	0	3	2	6	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:35656257T>A	ENST00000360679.3	-	1	435	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	ACACA_ENST00000335166.5_5'UTR|ACACA_ENST00000394406.2_Intron|ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron	NM_198837.1	NP_942134.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	0					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAACCCTCCATATCAAGATGG	0.393													7	24					0	0	0	0	A	35656257	T	A	35656257	1	1	189	1	0	0	0	0	0	0	0	0	106	1406	49	5		5	ACACA	17	35656257	Translation_Start_Site	SNP	T	TCGA-CR-6491-01A-11D-1870-08	6848004	35656257	45538953	142	33369											
RPL23	9349	broad.mit.edu	37	chr17	37008939	37008939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagcgggaagtctgttcagCcgtcccttgatccccttcac	6	10	10	15	2	3	1	2	1	1	0	5	2	5	2	4	1	2	2	4	1	1	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:37008939C>T	ENST00000479035.2	-	3	276	c.144G>A	c.(142-144)cgG>cgA	p.R48R	RPL23_ENST00000394333.1_Silent_p.R48R|RPL23_ENST00000577407.1_Silent_p.R48R|RPL23_ENST00000245857.5_5'UTR|RPL23_ENST00000394332.1_Silent_p.R48R	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	48					endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			endometrium(2)|large_intestine(1)	3						GTCTGTTCAGCCGTCCCTTGA	0.473													38	49					0	0	0	0	T	37008939	C	T	37008939	2	4	189	1	0	0	0	0	0	0	0	1	13655	726	26	4		4	RPL23	17	37008939	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08	1352682	37008939	44186271	143	33370											
KRT38	8687	broad.mit.edu	37	chr17	39596763	39596763	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcgtggcacttgctcctctcGaggagtgtggcctccagctc	4	11	12	14	2	1	0	0	0	1	0	6	2	3	1	3	3	2	3	3	3	0	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:39596763G>C	ENST00000246646.3	-	1	410	c.411C>G	c.(409-411)ctC>ctG	p.L137L		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	137	Coil 1A.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TGCTCCTCTCGAGGAGTGTGG	0.592													3	116					0	0	0	0	C	39596763	G	C	39596763	2	2	189	1	0	0	0	0	0	0	0	1	8527	1045	37	3		3	KRT38	17	39596763	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	2587824	39596763	41598447	144	33371											
HEXIM1	10614	broad.mit.edu	37	chr17	43227082	43227082	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctgacctgggaagagaaGaaaaagttcgacgagaaaca	19	4	12	6	2	0	4	0	1	0	3	1	8	0	5	1	1	2	2	1	1	6	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:43227082G>A	ENST00000332499.2	+	1	2399	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	175	Basic region; mediates nuclear localization and interaction with 7SK snRNA and NR3C1.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGAAGAGAAGAAAAAGTTCG	0.547											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	63					0	0	0	0	A	43227082	G	A	43227082	2	1	189	1	0	0	0	0	0	0	0	1	7126	933	33	2		2	HEXIM1	17	43227082	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	3630319	43227082	37968128	145	33372											
SNX11	29916	broad.mit.edu	37	chr17	46196402	46196402	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcaaagccagctctcGgtgcctgagatagaagcctg	9	9	11	12	1	1	2	0	1	1	2	3	3	2	2	4	1	5	2	4	1	3	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:46196402G>A	ENST00000452859.2	+	0	554				SNX11_ENST00000359238.2_Silent_p.S131S|SNX11_ENST00000582104.1_Silent_p.S123S|SNX11_ENST00000439357.2_Silent_p.S70S|SNX11_ENST00000580219.1_Silent_p.S123S|SNX11_ENST00000393405.2_Silent_p.S131S			Q9Y5W9	SNX11_HUMAN	sorting nexin 11						cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GCCAGCTCTCGGTGCCTGAGA	0.532													15	116					0	0	0	0	A	46196402	G	A	46196402	1	1	189	1	0	0	0	0	0	0	0	0	14970	1103	39	1		1	SNX11	17	46196402	Translation_Start_Site	SNP	G	TCGA-CR-6491-01A-11D-1870-08	2969320	46196402	34998808	146	33373											
LAMA1	284217	broad.mit.edu	37	chr18	6978216	6978216	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccatggtggagtcctgcaGaagctggtgtgtctctcgta	6	11	15	9	1	1	1	0	0	1	1	4	2	2	2	2	4	2	3	2	4	2	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr18:6978216G>A	ENST00000389658.3	-	43	6262	c.6169C>T	c.(6169-6171)Ctg>Ttg	p.L2057L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2057	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGTCCTGCAGAAGCTGGTGT	0.592													4	98					0	0	0	0	A	6978216	G	A	6978216	2	1	189	1	0	0	0	0	0	0	0	1	8658	933	33	2		2	LAMA1	18	6978216	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08		6978216	71099032	147	33374											
SLC39A6	25800	broad.mit.edu	37	chr18	33706965	33706965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagattacagataacttcctCgccattgcgccttcctagaa	12	11	6	12	2	0	3	0	0	0	3	3	3	2	3	4	0	3	0	4	0	5	6			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr18:33706965C>T	ENST00000269187.5	-	2	219	c.6G>A	c.(4-6)gcG>gcA	p.A2A	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Silent_p.A2A	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	2						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	p.A2A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						ATAACTTCCTCGCCATTGCGC	0.383													21	44					0	0	0	0	T	33706965	C	T	33706965	2	4	189	1	0	0	0	0	0	0	0	1	14710	871	31	1		1	SLC39A6	18	33706965	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08	26728749	33706965	44370283	148	33375											
RDH8	50700	broad.mit.edu	37	chr19	10127887	10127887	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccagggagaagtggacgtGctgggtgagacttcacagcc	10	7	15	9	1	1	2	1	1	0	2	2	5	2	3	2	3	2	1	2	3	1	1			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:10127887G>A	ENST00000591589.1	+	2	507	c.318G>A	c.(316-318)gtG>gtA	p.V106V	RDH8_ENST00000171214.1_Silent_p.V86V			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	86					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAGTGGACGTGCTGGGTGAGA	0.587													7	13					0	0	0	0	A	10127887	G	A	10127887	2	1	189	1	0	0	0	0	0	0	0	1	13278	1306	46	4		4	RDH8	19	10127887	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08		10127887	49001096	149	33376											
ZNF440	126070	broad.mit.edu	37	chr19	11942884	11942884	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcattcacgtgtccccgttAtgttcgtatacatgaaagga	11	12	9	9	3	1	1	1	1	0	0	3	2	2	2	2	1	2	4	2	1	4	5			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:11942884A>G	ENST00000304060.5	+	4	1057	c.893A>G	c.(892-894)tAt>tGt	p.Y298C		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGTCCCCGTTATGTTCGTATA	0.398													21	60					0	0	0	0	G	11942884	A	G	11942884	3	3	189	1	0	0	0	0	1	0	0	0	18008	449	16	5	907	5	ZNF440	19	11942884	Missense_Mutation	SNP	A	TCGA-CR-6491-01A-11D-1870-08	1814997	11942884	47186099	150	33377											
ZNF585A	199704	broad.mit.edu	37	chr19	37643886	37643886	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgacttggaaatgaaggaTttgccacagttactgcactc	11	12	10	8	0	0	2	0	2	0	0	1	4	0	4	1	2	3	2	1	2	3	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:37643886T>C	ENST00000356958.4	-	5	1173	c.915A>G	c.(913-915)aaA>aaG	p.K305K	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Silent_p.K250K|ZNF585A_ENST00000292841.5_Silent_p.K250K|ZNF585A_ENST00000355533.2_Silent_p.K250K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAATGAAGGATTTGCCACAGT	0.418													92	142					0	0	0	0	C	37643886	T	C	37643886	2	2	189	1	0	0	0	0	0	0	0	1	18112	1490	52	5		5	ZNF585A	19	37643886	Silent	SNP	T	TCGA-CR-6491-01A-11D-1870-08	25701002	37643886	21485097	151	33378											
ZNF569	148266	broad.mit.edu	37	chr19	37903627	37903627	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagggtaagagatgagatttGagagaaggcttttccacatt	14	11	12	4	0	0	4	0	2	0	3	1	7	1	4	1	2	0	2	1	2	3	5			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:37903627G>C	ENST00000316950.6	-	6	2490	c.1933C>G	c.(1933-1935)Caa>Gaa	p.Q645E	ZNF569_ENST00000392150.2_Missense_Mutation_p.Q486E|ZNF569_ENST00000392149.2_Missense_Mutation_p.Q645E	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGAGATTTGAGAGAAGGCT	0.433													7	115					0	0	0	0	C	37903627	G	C	37903627	3	2	189	1	0	0	0	0	1	0	0	0	18095	1299	45	2	131	2	ZNF569	19	37903627	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	259741	37903627	21225356	152	33379											
MAP3K10	4294	broad.mit.edu	37	chr19	40698536	40698536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcacgtgctggtcaactggGctgtgcaggtggcccggggc	4	8	17	12	2	2	0	2	0	0	0	2	0	2	0	1	6	3	3	1	6	1	0			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:40698536G>A	ENST00000253055.3	+	1	886	c.598G>A	c.(598-600)Gct>Act	p.A200T	MAP3K10_ENST00000593906.1_Intron	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	200	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGTCAACTGGGCTGTGCAGGT	0.622													14	15					0	0	0	0	A	40698536	G	A	40698536	3	1	189	1	0	0	0	0	1	0	0	0	9313	1203	42	4	600	4	MAP3K10	19	40698536	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	2794909	40698536	18430447	153	33380											
ADCK4	79934	broad.mit.edu	37	chr19	41198104	41198104	+	Nonsense_Mutation	SNP	T	T	A																															caggaaagcccctgccagctTgcggtgcagggcataggtct																										TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:41198104T>A	ENST00000324464.3	-	15	1772	c.1471A>T	c.(1471-1473)Aag>Tag	p.K491*	ADCK4_ENST00000450541.1_Nonsense_Mutation_p.K450*|ADCK4_ENST00000243583.6_Nonsense_Mutation_p.K450*	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	491						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCTGCCAGCTTGCGGTGCAGG	0.687													5	8					0	0	0	0	A	41198104	T	A	41198104	4	1	189	1	0	0	0	0	0	1	0	0	290	1821	63	5	167	5	ADCK4	19	41198104	Nonsense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	499568	41198104	17930879	154	33381	251	2									
ADCK4	79934	broad.mit.edu	37	chr19	41198105	41198105	+	Silent	SNP	G	G	A																															aggaaagcccctgccagcttGcggtgcagggcataggtctc																										TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:41198105G>A	ENST00000324464.3	-	15	1771	c.1470C>T	c.(1468-1470)cgC>cgT	p.R490R	ADCK4_ENST00000450541.1_Silent_p.R449R|ADCK4_ENST00000243583.6_Silent_p.R449R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	490						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CTGCCAGCTTGCGGTGCAGGG	0.687													5	7					0	0	0	0	A	41198105	G	A	41198105	2	1	189	1	0	0	0	0	0	0	0	1	290	1306	46	4		4	ADCK4	19	41198105	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	1	41198105	17930878	155	33382	251	2									
DEDD2	162989	broad.mit.edu	37	chr19	42720875	42720875	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgcggcagcaggtcgtgGcgggccagcacgcgcaggag	7	3	20	11	5	0	0	0	0	0	0	1	1	0	1	1	6	3	4	1	6	0	0			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:42720875G>A	ENST00000595337.1	-	2	372	c.285C>T	c.(283-285)cgC>cgT	p.R95R	DEDD2_ENST00000593804.1_Intron|DEDD2_ENST00000596251.1_Silent_p.R95R|DEDD2_ENST00000336034.4_Silent_p.R95R|DEDD2_ENST00000598727.1_Silent_p.R95R	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	95	DED.				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GCAGGTCGTGGCGGGCCAGCA	0.716													10	11					0	0	0	0	A	42720875	G	A	42720875	2	1	189	1	0	0	0	0	0	0	0	1	4417	1190	42	4		4	DEDD2	19	42720875	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	1522770	42720875	16408108	156	33383											
NAPA	8775	broad.mit.edu	37	chr19	47996260	47996260	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgatactgctccagcagCgcagcgtaaccagccacctt	9	9	8	15	2	1	1	0	1	1	0	2	1	2	1	4	0	7	4	4	0	2	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:47996260C>T	ENST00000263354.3	-	7	818	c.519G>A	c.(517-519)gcG>gcA	p.A173A	NAPA_ENST00000595227.1_Silent_p.A134A|NAPA-AS1_ENST00000594367.1_RNA|NAPA-AS1_ENST00000593284.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	173					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GCTCCAGCAGCGCAGCGTAAC	0.642													6	88					0	0	0	0	T	47996260	C	T	47996260	2	4	189	1	0	0	0	0	0	0	0	1	10231	755	27	1		1	NAPA	19	47996260	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08	5275385	47996260	11132723	157	33384											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628589	51628589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcggggagatacttctttCgtatggagaaaggaagtata	13	11	13	4	2	1	2	0	0	1	2	2	5	1	3	0	4	2	2	0	4	6	6	rs147625837		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:51628589C>T	ENST00000440804.3	+	1	425	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.R120C	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	120	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ATACTTCTTTCGTATGGAGAA	0.498													24	64					0	0	0	0	T	51628589	C	T	51628589	3	4	189	1	0	0	0	0	1	0	0	0	14403	884	31	1	360	1	SIGLEC9	19	51628589	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08	3632329	51628589	7500394	158	33385											
ZNF530	348327	broad.mit.edu	37	chr19	58117075	58117075	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggtgtggagcagtagAtgaggggacgccttctgcag	7	10	17	7	1	1	2	0	1	1	1	1	4	1	4	1	4	3	4	1	4	1	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:58117075A>G	ENST00000332854.6	+	3	402	c.182A>G	c.(181-183)gAt>gGt	p.D61G	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAGCAGTAGATGAGGGGACG	0.463													33	54					0	0	0	0	G	58117075	A	G	58117075	3	3	189	1	0	0	0	0	1	0	0	0	18066	333	12	5	192	5	ZNF530	19	58117075	Missense_Mutation	SNP	A	TCGA-CR-6491-01A-11D-1870-08	6488486	58117075	1011908	159	33386											
SLC23A2	9962	broad.mit.edu	37	chr20	4864369	4864369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caattagggccaccgtgggtGtaatggtcaagggaccgatg	10	8	15	8	2	1	0	1	0	0	0	1	2	1	1	3	4	0	1	3	4	4	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr20:4864369G>A	ENST00000379333.1	-	9	1135	c.743C>T	c.(742-744)aCa>aTa	p.T248I	SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Missense_Mutation_p.T248I	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	248					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACCGTGGGTGTAATGGTCAA	0.582													4	78					0	0	0	0	A	4864369	G	A	4864369	3	1	189	1	0	0	0	0	1	0	0	0	14551	1377	48	4	1245	4	SLC23A2	20	4864369	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08		4864369	58161151	160	33387											
GNAS	2778	broad.mit.edu	37	chr20	57428562	57428562	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacccaactttcaggtccTcaacccggcattcagggaag	11	7	9	14	1	3	1	3	0	0	1	4	2	4	2	3	3	2	1	3	3	3	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr20:57428562T>A	ENST00000371100.4	+	1	794	c.242T>A	c.(241-243)cTc>cAc	p.L81H	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.L81H|GNAS_ENST00000371102.4_Missense_Mutation_p.L81H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.S18T|GNAS_ENST00000603534.1_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TTTCAGGTCCTCAACCCGGCA	0.612			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			3	22					0	0	0	0	A	57428562	T	A	57428562	3	1	189	1	0	0	0	0	1	0	0	0	6561	1551	54	5	986	5	GNAS	20	57428562	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	52564193	57428562	5596958	161	33388											
DSCAM	1826	broad.mit.edu	37	chr21	41385184	41385184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctccaggaccgtggggCgcttcagggtccggcttttc	3	10	16	12	3	1	0	1	0	0	0	4	1	3	1	3	6	0	3	3	6	0	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr21:41385184C>T	ENST00000400454.1	-	33	6293	c.5816G>A	c.(5815-5817)cGc>cAc	p.R1939H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1939				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GACCGTGGGGCGCTTCAGGGT	0.612													11	21					0	0	0	0	T	41385184	C	T	41385184	3	4	189	1	0	0	0	0	1	0	0	0	4804	768	27	1	226	1	DSCAM	21	41385184	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08		41385184	6744711	162	33389											
COL6A2	1292	broad.mit.edu	37	chr21	47532166	47532166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcagctccttccgccGcggcaccttcaccgactgcg	5	7	11	18	5	2	0	2	0	0	0	4	1	4	0	5	2	2	3	5	2	0	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr21:47532166G>A	ENST00000300527.4	+	3	493	c.389G>A	c.(388-390)cGc>cAc	p.R130H	COL6A2_ENST00000409416.1_Missense_Mutation_p.R130H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R130H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R130H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R130H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	130	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCCTTCCGCCGCGGCACCTTC	0.672													18	28					0	0	0	0	A	47532166	G	A	47532166	3	1	189	1	0	0	0	0	1	0	0	0	3730	1087	38	1	395	1	COL6A2	21	47532166	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	6146982	47532166	597729	163	33390											
BCR	613	broad.mit.edu	37	chr22	23523321	23523321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcgcttccgcatgatctaCctgcagacgttgctggccaa	8	9	11	13	3	1	2	0	1	1	1	2	3	2	2	3	1	4	5	3	1	2	3			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr22:23523321C>T	ENST00000305877.8	+	1	925	c.174C>T	c.(172-174)taC>taT	p.Y58Y	BCR_ENST00000359540.3_Silent_p.Y58Y|BCR_ENST00000398512.5_Silent_p.Y58Y	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	58	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GCATGATCTACCTGCAGACGT	0.677			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								3	8					0	0	0	0	T	23523321	C	T	23523321	2	4	189	1	0	0	0	0	0	0	0	1	1392	518	18	4		4	BCR	22	23523321	Silent	SNP	C	TCGA-CR-6491-01A-11D-1870-08		23523321	27781245	164	33391											
TRMU	55687	broad.mit.edu	37	chr22	46748195	46748195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctggtcactttatttccaTagaagacaataaggttctgg	12	13	8	8	0	2	2	1	0	1	2	3	2	3	2	2	3	0	1	2	3	5	6			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr22:46748195T>C	ENST00000290846.4	+	7	1080	c.740T>C	c.(739-741)aTa>aCa	p.I247T	TRMU_ENST00000381019.3_Missense_Mutation_p.I247T|TRMU_ENST00000424260.2_3'UTR	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	247						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TTTATTTCCATAGAAGACAAT	0.502													85	133					0	0	0	0	C	46748195	T	C	46748195	3	2	189	1	0	0	0	0	1	0	0	0	16666	1406	49	5	766	5	TRMU	22	46748195	Missense_Mutation	SNP	T	TCGA-CR-6491-01A-11D-1870-08	23224874	46748195	4556371	165	33392											
ZMYM3	9203	broad.mit.edu	37	chrX	70463731	70463731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcaggttcatatcgttcaCcattgggccgagtgatttct	7	15	10	9	2	4	1	3	1	1	0	5	2	4	1	2	2	0	2	2	2	1	5			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chrX:70463731C>T	ENST00000373998.1	-	21	4041	c.3344G>A	c.(3343-3345)gGt>gAt	p.G1115D	ZMYM3_ENST00000373984.3_Missense_Mutation_p.G1122D|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.G1127D|ZMYM3_ENST00000373988.1_Missense_Mutation_p.G1129D|ZMYM3_ENST00000314425.5_Missense_Mutation_p.G1127D	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1127					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ATATCGTTCACCATTGGGCCG	0.502													6	53					0	0	0	0	T	70463731	C	T	70463731	3	4	189	1	0	0	0	0	1	0	0	0	17796	507	18	4	752	4	ZMYM3	23	70463731	Missense_Mutation	SNP	C	TCGA-CR-6491-01A-11D-1870-08		70463731	84806829	166	33393											
GUCY2F	2986	broad.mit.edu	37	chrX	108708521	108708521	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttccttaggacccggtaGggggtgtgcttataaggtaa	8	13	14	6	1	0	0	0	0	0	0	1	1	1	1	2	5	1	4	2	5	5	7			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chrX:108708521G>A	ENST00000218006.2	-	3	1173	c.882C>T	c.(880-882)ccC>ccT	p.P294P		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	294					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGACCCGGTAGGGGGTGTGCT	0.463													4	88					0	0	0	0	A	108708521	G	A	108708521	2	1	189	1	0	0	0	0	0	0	0	1	6948	987	35	4		4	GUCY2F	23	108708521	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	38244790	108708521	46562039	167	33394											
THOC2	57187	broad.mit.edu	37	chrX	122765598	122765598	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgcatcatggggtgtatGaaattcattacagagtacat	12	13	10	6	0	2	2	2	1	0	1	2	2	2	2	0	2	4	4	0	2	4	4			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chrX:122765598G>C	ENST00000245838.8	-	22	2453	c.2422C>G	c.(2422-2424)Cat>Gat	p.H808D	THOC2_ENST00000491737.1_Missense_Mutation_p.H693D|THOC2_ENST00000355725.4_Missense_Mutation_p.H808D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	808					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.H729Y(1)|p.H808Y(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGGGGTGTATGAAATTCATTA	0.418													5	144					0	0	0	0	C	122765598	G	C	122765598	3	2	189	1	0	0	0	0	1	0	0	0	15959	1290	45	2	2427	2	THOC2	23	122765598	Missense_Mutation	SNP	G	TCGA-CR-6491-01A-11D-1870-08	14057077	122765598	32504962	168	33395											
TMEM187	8269	broad.mit.edu	37	chrX	153248203	153248203	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggccacttctggtccaaGgtctgtgacgtgctccagtt	7	11	11	12	1	2	1	0	1	2	0	4	1	4	1	3	3	1	2	3	3	1	2			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chrX:153248203G>A	ENST00000369982.4	+	2	1437	c.690G>A	c.(688-690)aaG>aaA	p.K230K		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	230						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGTCCAAGGTCTGTGACG	0.562													42	16					0	0	0	0	A	153248203	G	A	153248203	2	1	189	1	0	0	0	0	0	0	0	1	16203	991	35	4		4	TMEM187	23	153248203	Silent	SNP	G	TCGA-CR-6491-01A-11D-1870-08	30482605	153248203	2022357	169	33396											
SPEN	23013	broad.mit.edu	37	chr1	16260533	16260533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actctgagatacaagcctcgGaggtgctggtagctgctgac	9	9	13	10	1	1	2	0	2	1	1	2	4	1	3	1	3	5	4	1	3	3	2			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:16260533G>A	ENST00000375759.3	+	11	8002	c.7798G>A	c.(7798-7800)Gag>Aag	p.E2600K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2600	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACAAGCCTCGGAGGTGCTGGT	0.498													12	113					0	0	0	0	A	16260533	G	A	16260533	3	1	190	1	0	0	0	0	1	0	0	0	15128	1175	41	2	7840	2	SPEN	1	16260533	Missense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08		16260533	232990088	1	33397											
CELSR2	1952	broad.mit.edu	37	chr1	109806318	109806318	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctcccaaccctggtacctCagcctcatgttccgcacgcg	7	9	7	18	3	3	0	2	0	1	0	5	0	4	0	5	1	3	3	5	1	2	2			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:109806318C>T	ENST00000271332.3	+	9	4981	c.4920C>T	c.(4918-4920)ctC>ctT	p.L1640L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1640	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCTGGTACCTCAGCCTCATGT	0.652											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	120					0	0	0	0	T	109806318	C	T	109806318	2	4	190	1	0	0	0	0	0	0	0	1	3251	813	29	2		2	CELSR2	1	109806318	Silent	SNP	C	TCGA-CR-6492-01A-12D-2078-08	93545785	109806318	139444303	2	33398											
GPR89A	653519	broad.mit.edu	37	chr1	145765384	145765384	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttaccattatctgtgctaaTagcaggacaatgacattgga	13	12	8	8	0	1	1	0	1	1	0	1	3	1	3	1	2	3	2	1	2	5	5			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:145765384T>C	ENST00000313835.9	-	13	1289	c.1146A>G	c.(1144-1146)ctA>ctG	p.L382L	GPR89A_ENST00000462900.2_Silent_p.L357L|GPR89A_ENST00000454423.3_Silent_p.L262L|GPR89A_ENST00000534502.1_Silent_p.L357L			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	382					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TCTGTGCTAATAGCAGGACAA	0.328													23	173					0	0	0	0	C	145765384	T	C	145765384	2	2	190	1	0	0	0	0	0	0	0	1	6767	1393	49	5		5	GPR89A	1	145765384	Silent	SNP	T	TCGA-CR-6492-01A-12D-2078-08	35959066	145765384	103485237	3	33399											
LHX9	56956	broad.mit.edu	37	chr1	197887087	197887087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcagatccaagactgaggCccgtctggccaaaggcgccc	9	4	13	15	3	1	3	0	1	1	2	2	3	2	3	4	3	0	1	4	3	2	0			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:197887087C>T	ENST00000367390.3	+	2	134	c.107C>T	c.(106-108)gCc>gTc	p.A36V	LHX9_ENST00000561173.1_Missense_Mutation_p.A51V|LHX9_ENST00000337020.2_Missense_Mutation_p.A45V|LHX9_ENST00000367391.1_Missense_Mutation_p.A36V|LHX9_ENST00000367387.4_Missense_Mutation_p.A45V|LHX9_ENST00000606127.1_3'UTR	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	45					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						AAGACTGAGGCCCGTCTGGCC	0.657													7	79					0	0	0	0	T	197887087	C	T	197887087	3	4	190	1	0	0	0	0	1	0	0	0	8831	739	26	4	168	4	LHX9	1	197887087	Missense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08	52121703	197887087	51363534	4	33400											
PTPRC	5788	broad.mit.edu	37	chr1	198668699	198668699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcctaccttaggtgtttCatcagtacagacgcctcacc	8	13	6	14	1	3	1	3	0	0	1	4	1	4	1	4	1	2	2	4	1	3	5			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:198668699C>T	ENST00000367376.2	+	5	470	c.299C>T	c.(298-300)tCa>tTa	p.S100L	PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.S100L|PTPRC_ENST00000442510.2_Missense_Mutation_p.S102L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	100					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTAGGTGTTTCATCAGTACAG	0.488											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	72					0	0	0	0	T	198668699	C	T	198668699	3	4	190	1	0	0	0	0	1	0	0	0	12879	838	29	2	324	2	PTPRC	1	198668699	Missense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08	781612	198668699	50581922	5	33401											
KIF14	9928	broad.mit.edu	37	chr1	200587425	200587425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctcccacattcagtgtcaTtttgacagaatctatttcag	11	14	5	11	0	4	2	3	1	1	1	5	2	5	2	2	0	0	0	2	0	2	5			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:200587425T>C	ENST00000367350.4	-	2	865	c.427A>G	c.(427-429)Atg>Gtg	p.M143V		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	143	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCAGTGTCATTTTGACAGAA	0.348													5	58					0	0	0	0	C	200587425	T	C	200587425	3	2	190	1	0	0	0	0	1	0	0	0	8327	1493	52	5	4635	5	KIF14	1	200587425	Missense_Mutation	SNP	T	TCGA-CR-6492-01A-12D-2078-08	1918726	200587425	48663196	6	33402											
TTC13	79573	broad.mit.edu	37	chr1	231061288	231061288	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtattctcttgtttggcagGaaaccaggtgtttcatattg	8	17	10	6	0	2	0	1	0	1	0	3	1	2	1	1	3	1	4	1	3	3	7			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr1:231061288G>A	ENST00000366661.4	-	13	1570	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	TTC13_ENST00000366662.4_Silent_p.F468F|TTC13_ENST00000414259.1_Silent_p.F468F	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	521							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TGTTTGGCAGGAAACCAGGTG	0.408													6	62					0	0	0	0	A	231061288	G	A	231061288	2	1	190	1	0	0	0	0	0	0	0	1	16776	1165	41	2		2	TTC13	1	231061288	Silent	SNP	G	TCGA-CR-6492-01A-12D-2078-08	30473863	231061288	18189333	7	33403											
KLF11	8462	broad.mit.edu	37	chr2	10186310	10186310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acatatgtgagtccatcctgGagaggaagcggcatgacagc	12	7	13	9	1	0	3	0	2	0	1	2	5	2	4	2	3	2	1	2	3	2	1			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr2:10186310G>A	ENST00000535335.1	+	2	241	c.25G>A	c.(25-27)Gag>Aag	p.E9K	KLF11_ENST00000305883.1_Missense_Mutation_p.E26K|KLF11_ENST00000540845.1_Missense_Mutation_p.E9K	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	26					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GTCCATCCTGGAGAGGAAGCG	0.522													5	50					0	0	0	0	A	10186310	G	A	10186310	3	1	190	1	0	0	0	0	1	0	0	0	8391	1175	41	2	82	2	KLF11	2	10186310	Missense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08		10186310	233013063	8	33404											
BMPR2	659	broad.mit.edu	37	chr2	203420620	203420620	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctactcagatctatccTctccccaagcagcagaacct	10	9	5	17	0	3	2	1	0	2	2	5	2	4	2	5	0	5	2	5	0	4	2			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr2:203420620T>G	ENST00000374580.4	+	12	2771	c.2232T>G	c.(2230-2232)ccT>ccG	p.P744P	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	744					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGATCTATCCTCTCCCCAAGC	0.458													5	72					0	0	0	0	G	203420620	T	G	203420620	2	3	190	1	0	0	0	0	0	0	0	1	1476	1538	54	5		5	BMPR2	2	203420620	Silent	SNP	T	TCGA-CR-6492-01A-12D-2078-08	193234310	203420620	39778753	9	33405											
CHL1	10752	broad.mit.edu	37	chr3	369921	369921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattccatcgaacaattcagGaacattcaggatcccaaacg	16	8	6	11	2	2	0	2	0	0	0	5	3	4	2	2	2	3	0	2	2	5	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr3:369921G>A	ENST00000256509.2	+	5	911	c.269G>A	c.(268-270)gGa>gAa	p.G90E	CHL1_ENST00000397491.2_Missense_Mutation_p.G90E	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	90	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AACAATTCAGGAACATTCAGG	0.388													6	94					0	0	0	0	A	369921	G	A	369921	3	1	190	1	0	0	0	0	1	0	0	0	3378	1174	41	2	279	2	CHL1	3	369921	Missense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08		369921	197652509	10	33406											
CRYBG3	131544	broad.mit.edu	37	chr3	97598838	97598838	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgttgcagatggttatcTatgatctccatgaaagtaca	11	14	9	7	0	2	3	0	2	2	1	3	3	2	3	1	1	2	4	1	1	4	4			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr3:97598838T>A	ENST00000182096.4	+	3	1118	c.1054T>A	c.(1054-1056)Tat>Aat	p.Y352N		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GATGGTTATCTATGATCTCCA	0.284													10	59					0	0	0	0	A	97598838	T	A	97598838	3	1	190	1	0	0	0	0	1	0	0	0	3943	1522	53	5	1064	5	CRYBG3	3	97598838	Missense_Mutation	SNP	T	TCGA-CR-6492-01A-12D-2078-08	97228917	97598838	100423592	11	33407											
CLSTN2	64084	broad.mit.edu	37	chr3	140277533	140277533	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgaggtagatgcctatgtGatggtcctccaggccatcga	8	10	12	11	1	0	3	0	2	0	1	3	4	2	3	5	3	1	1	5	3	2	2			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr3:140277533G>C	ENST00000458420.3	+	12	2065	c.1875G>C	c.(1873-1875)gtG>gtC	p.V625V		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	625					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ATGCCTATGTGATGGTCCTCC	0.547										HNSCC(16;0.037)			5	65					0	0	0	0	C	140277533	G	C	140277533	2	2	190	1	0	0	0	0	0	0	0	1	3592	1277	45	2		2	CLSTN2	3	140277533	Silent	SNP	G	TCGA-CR-6492-01A-12D-2078-08	42678695	140277533	57744897	12	33408											
PHC3	80012	broad.mit.edu	37	chr3	169835109	169835109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtggaggtttgttctctaTactgggaatgctactgtgca	7	15	12	7	0	1	0	0	0	1	0	2	2	1	2	0	3	4	4	0	3	4	5			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr3:169835109T>C	ENST00000494943.1	-	10	2130	c.2062A>G	c.(2062-2064)Ata>Gta	p.I688V	PHC3_ENST00000495893.1_Missense_Mutation_p.I700V|PHC3_ENST00000467570.1_Missense_Mutation_p.I647V			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	688					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTGTTCTCTATACTGGGAATG	0.448													7	42					0	0	0	0	C	169835109	T	C	169835109	3	2	190	1	0	0	0	0	1	0	0	0	11890	1406	49	5	913	5	PHC3	3	169835109	Missense_Mutation	SNP	T	TCGA-CR-6492-01A-12D-2078-08	29557576	169835109	28187321	13	33409											
EIF4G1	1981	broad.mit.edu	37	chr3	184045767	184045767	+	Frame_Shift_Del	DEL	G	G	-																															ctgctctgtgctgggcatctGtctactgctcagtactacca																										TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr3:184045767delG	ENST00000342981.4	+	25	4347	c.3933delG	c.(3931-3933)ctfs	p.L1311fs	EIF4G1_ENST00000352767.3_Frame_Shift_Del_p.L1317fs|EIF4G1_ENST00000382330.3_Frame_Shift_Del_p.L1317fs|EIF4G1_ENST00000441154.1_Frame_Shift_Del_p.L1147fs|EIF4G1_ENST00000414031.1_Frame_Shift_Del_p.L1270fs|EIF4G1_ENST00000350481.5_Frame_Shift_Del_p.L1146fs|EIF4G1_ENST00000435046.2_Frame_Shift_Del_p.L1114fs|EIF4G1_ENST00000411531.1_Frame_Shift_Del_p.L1271fs|EIF4G1_ENST00000434061.2_Frame_Shift_Del_p.L1115fs|EIF4G1_ENST00000319274.6_Frame_Shift_Del_p.L1310fs|EIF4G1_ENST00000427845.1_Frame_Shift_Del_p.L1224fs|EIF4G1_ENST00000392537.2_Frame_Shift_Del_p.L1223fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Frame_Shift_Del_p.L1310fs|EIF4G1_ENST00000424196.1_Frame_Shift_Del_p.L1317fs	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1310	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGGGCATCTGTCTACTGCTC	0.537													7	113	---	---	---	---					-	184045767	G	-	184045767	7	5	190	1	0	1	0	1	0	0	0	0	5074	1364	48	0	4024	0	EIF4G1	3	184045767	Frame_Shift_Del	DEL	G	TCGA-CR-6492-01A-12D-2078-08	14210658	184045767	13976663	14	33410											
TP63	8626	broad.mit.edu	37	chr3	189526137	189526137	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctcgtccaccagtccctAtaacacagaccacgcgcaga	11	6	6	18	3	0	2	0	0	0	2	4	2	3	2	5	0	1	1	5	0	2	2			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr3:189526137A>G	ENST00000264731.3	+	4	490	c.401A>G	c.(400-402)tAt>tGt	p.Y134C	TP63_ENST00000437221.1_Missense_Mutation_p.Y40C|TP63_ENST00000392463.2_Missense_Mutation_p.Y40C|TP63_ENST00000418709.2_Missense_Mutation_p.Y134C|TP63_ENST00000382063.4_Intron|TP63_ENST00000320472.5_Missense_Mutation_p.Y134C|TP63_ENST00000440651.2_Missense_Mutation_p.Y134C|TP63_ENST00000354600.5_Missense_Mutation_p.Y40C|TP63_ENST00000392460.3_Missense_Mutation_p.Y134C|TP63_ENST00000456148.1_Missense_Mutation_p.Y40C|TP63_ENST00000449992.1_Intron|TP63_ENST00000392461.3_Missense_Mutation_p.Y40C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	134					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCAGTCCCTATAACACAGAC	0.617										HNSCC(45;0.13)			15	80					0	0	0	0	G	189526137	A	G	189526137	3	3	190	1	0	0	0	0	1	0	0	0	16487	449	16	5	461	5	TP63	3	189526137	Missense_Mutation	SNP	A	TCGA-CR-6492-01A-12D-2078-08	5480370	189526137	8496293	15	33411											
EVC	2121	broad.mit.edu	37	chr4	5750014	5750014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaagggctattgtgcgattCtcaggagctgcaggctctgg	7	10	15	9	2	2	0	1	0	2	0	3	3	2	1	0	4	3	4	0	4	2	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr4:5750014C>T	ENST00000382674.2	+	8	1263	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F	EVC_ENST00000264956.6_Missense_Mutation_p.S360F|EVC_ENST00000509451.1_Missense_Mutation_p.S360F			P57679	EVC_HUMAN	Ellis van Creveld syndrome	360					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TTGTGCGATTCTCAGGAGCTG	0.488													3	36					0	0	0	0	T	5750014	C	T	5750014	3	4	190	1	0	0	0	0	1	0	0	0	5323	913	32	2	1109	2	EVC	4	5750014	Missense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08		5750014	185404262	16	33412											
FAT1	2195	broad.mit.edu	37	chr4	187530345	187530345	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttcacttaccgtttctcGgtcgagaagtttggtcactt	6	18	8	9	3	3	1	2	0	1	1	5	2	3	1	1	2	1	2	1	2	2	6			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr4:187530345G>A	ENST00000441802.2	-	16	10407	c.10198C>T	c.(10198-10200)Cga>Tga	p.R3400*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3400	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCGTTTCTCGGTCGAGAAGT	0.453										HNSCC(5;0.00058)			8	33					0	0	0	0	A	187530345	G	A	187530345	4	1	190	1	0	0	0	0	0	1	0	0	5734	1124	39	1	3616	1	FAT1	4	187530345	Nonsense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08	181780331	187530345	3623931	17	33413											
FAT1	2195	broad.mit.edu	37	chr4	187542660	187542660	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatacaccactgatgattGactatgggctgtaaccatcc	11	12	7	11	0	1	3	1	3	0	0	2	3	2	3	3	1	2	2	3	1	3	5			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr4:187542660G>A	ENST00000441802.2	-	10	5289	c.5080C>T	c.(5080-5082)Caa>Taa	p.Q1694*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1694	Cadherin 15.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGATGATTGACTATGGGCT	0.393										HNSCC(5;0.00058)			7	49					0	0	0	0	A	187542660	G	A	187542660	4	1	190	1	0	0	0	0	0	1	0	0	5734	1299	45	2	8758	2	FAT1	4	187542660	Nonsense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08	12315	187542660	3611616	18	33414											
TRIML2	205860	broad.mit.edu	37	chr4	189022315	189022315	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatatgcattcctgctgtctCtggagattctgctcacactc	7	14	8	12	0	3	1	1	0	2	1	6	3	4	1	1	1	3	3	1	1	1	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr4:189022315C>G	ENST00000512729.1	-	3	599	c.225G>C	c.(223-225)caG>caC	p.Q75H	TRIML2_ENST00000536972.1_Missense_Mutation_p.Q125H|TRIML2_ENST00000326754.3_Missense_Mutation_p.Q75H	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	75							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CCTGCTGTCTCTGGAGATTCT	0.428													5	45					0	0	0	0	G	189022315	C	G	189022315	3	3	190	1	0	0	0	0	1	0	0	0	16646	912	32	2	958	2	TRIML2	4	189022315	Missense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08	1479655	189022315	2131961	19	33415											
PLEKHG4B	153478	broad.mit.edu	37	chr5	171485	171485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgggcgagctccgagccGccgaggtcgtggtctgcttc	4	8	16	13	5	1	0	0	0	1	0	4	3	2	0	3	3	4	3	3	3	0	1			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr5:171485G>A	ENST00000283426.6	+	14	2958	c.2908G>A	c.(2908-2910)Gcc>Acc	p.A970T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	970	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCTCCGAGCCGCCGAGGTCGT	0.677													4	28					0	0	0	0	A	171485	G	A	171485	3	1	190	1	0	0	0	0	1	0	0	0	12144	1087	38	1	2962	1	PLEKHG4B	5	171485	Missense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08		171485	180743775	20	33416											
PIK3R1	5295	broad.mit.edu	37	chr5	67589628	67589628	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaaagtcgagaatatgAtagattatatgaagaatata	22	10	8	1	1	0	6	0	2	0	4	1	7	0	6	0	0	0	0	0	0	12	6			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr5:67589628A>T	ENST00000521381.1	+	11	2007	c.1391A>T	c.(1390-1392)gAt>gTt	p.D464V	PIK3R1_ENST00000396611.1_Missense_Mutation_p.D464V|PIK3R1_ENST00000274335.5_Missense_Mutation_p.D464V|PIK3R1_ENST00000336483.5_Missense_Mutation_p.D194V|PIK3R1_ENST00000521657.1_Missense_Mutation_p.D464V|PIK3R1_ENST00000320694.8_Missense_Mutation_p.D164V|PIK3R1_ENST00000523872.1_Missense_Mutation_p.D101V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	464					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.Y463_L466del(1)|p.E462_R465delEYDR(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CGAGAATATGATAGATTATAT	0.294			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			9	54					0	0	0	0	T	67589628	A	T	67589628	3	4	190	1	0	0	0	0	1	0	0	0	11990	333	12	5	1559	5	PIK3R1	5	67589628	Missense_Mutation	SNP	A	TCGA-CR-6492-01A-12D-2078-08	67418143	67589628	113325632	21	33417											
HAPLN1	1404	broad.mit.edu	37	chr5	82948498	82948498	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtaatccgaagttagcttGgtccacttaattcggatttt	10	15	9	7	2	0	0	0	0	0	0	3	2	2	1	2	3	1	3	2	3	4	7			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr5:82948498G>T	ENST00000274341.4	-	3	1096	c.246C>A	c.(244-246)acC>acA	p.T82T	HAPLN1_ENST00000514416.1_Silent_p.T82T	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	82	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		AAGTTAGCTTGGTCCACTTAA	0.423													5	97					1.6384e-10	1.84555e-10	1	0	T	82948498	G	T	82948498	2	4	190	1	0	0	0	0	0	0	0	1	7004	1335	47	4		4	HAPLN1	5	82948498	Silent	SNP	G	TCGA-CR-6492-01A-12D-2078-08	15358870	82948498	97966762	22	33418											
RASA1	5921	broad.mit.edu	37	chr5	86659189	86659189	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaaaacgttggaaaaattTatattttatcttagagggta	16	14	9	2	1	1	1	0	0	1	1	1	3	1	3	0	3	1	2	0	3	9	8			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr5:86659189T>A	ENST00000456692.2	+	11	1062	c.947T>A	c.(946-948)tTa>tAa	p.L316*	RASA1_ENST00000506290.1_Nonsense_Mutation_p.L327*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.L493*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.L326*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	493	SH3.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGGAAAAATTTATATTTTATC	0.289													10	33					0	0	0	0	A	86659189	T	A	86659189	4	1	190	1	0	0	0	0	0	1	0	0	13142	1764	61	5	1532	5	RASA1	5	86659189	Nonsense_Mutation	SNP	T	TCGA-CR-6492-01A-12D-2078-08	3710691	86659189	94256071	23	33419											
PCDHA7	56141	broad.mit.edu	37	chr5	140214357	140214357	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacattaacgacaaccCtccggtgttcccagcgacac	12	6	9	14	3	0	0	0	0	0	0	2	4	2	1	3	2	3	1	3	2	3	2			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr5:140214357C>G	ENST00000525929.1	+	1	389	c.389C>G	c.(388-390)cCt>cGt	p.P130R	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P130R|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAACCCTCCGGTGTTC	0.592													8	184					0	0	0	0	G	140214357	C	G	140214357	3	3	190	1	0	0	0	0	1	0	0	0	11600	681	24	4	391	4	PCDHA7	5	140214357	Missense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08	53555168	140214357	40700903	24	33420											
KIF4B	285643	broad.mit.edu	37	chr5	154393632	154393632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaataaagcagtagcgccGctcataaaaggcatatttaa	16	10	7	8	2	2	0	2	0	0	0	2	0	2	0	1	1	2	4	1	1	8	7			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr5:154393632G>A	ENST00000435029.4	+	1	373	c.213G>A	c.(211-213)ccG>ccA	p.P71P		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	71	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.P71P(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTAGCGCCGCTCATAAAAG	0.463													9	62					0	0	0	0	A	154393632	G	A	154393632	2	1	190	1	0	0	0	0	0	0	0	1	8355	1074	38	1		1	KIF4B	5	154393632	Silent	SNP	G	TCGA-CR-6492-01A-12D-2078-08	14179275	154393632	26521628	25	33421											
ALDH5A1	7915	broad.mit.edu	37	chr6	24523069	24523069	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaagcattcgccgaggcCatgaagaagaacctgcgcgt	13	6	12	10	4	0	3	0	1	0	2	1	4	0	3	3	1	3	2	3	1	5	2			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr6:24523069C>T	ENST00000357578.3	+	7	1234	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	ALDH5A1_ENST00000491546.1_Silent_p.A335A|ALDH5A1_ENST00000546278.1_Silent_p.A275A|ALDH5A1_ENST00000348925.2_Silent_p.A376A	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	363					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TCGCCGAGGCCATGAAGAAGA	0.428													10	106					0	0	0	0	T	24523069	C	T	24523069	2	4	190	1	0	0	0	0	0	0	0	1	502	581	21	4		4	ALDH5A1	6	24523069	Silent	SNP	C	TCGA-CR-6492-01A-12D-2078-08		24523069	146591998	26	33422											
ZNF391	346157	broad.mit.edu	37	chr6	27368887	27368887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacgaatacacactggagaGaatccctatgaatgcagtaa	17	7	8	9	1	0	2	0	1	0	1	1	5	1	3	1	1	3	2	1	1	7	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr6:27368887G>C	ENST00000244576.4	+	3	1283	c.738G>C	c.(736-738)gaG>gaC	p.E246D		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						ACACTGGAGAGAATCCCTATG	0.433													3	44					0	0	0	0	C	27368887	G	C	27368887	3	2	190	1	0	0	0	0	1	0	0	0	17974	933	33	2	740	2	ZNF391	6	27368887	Missense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08	2845818	27368887	143746180	27	33423											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28327420	28327420	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccagtctacagaagaccaGatggagcttctggtcataaa	13	8	10	10	0	3	3	1	0	2	3	3	4	3	4	2	2	2	1	2	2	4	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr6:28327420G>A	ENST00000377255.3	+	3	354	c.57G>A	c.(55-57)caG>caA	p.Q19Q	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Silent_p.Q19Q	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	19					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CAGAAGACCAGATGGAGCTTC	0.562													9	98					0	0	0	0	A	28327420	G	A	28327420	2	1	190	1	0	0	0	0	0	0	0	1	17783	933	33	2		2	ZKSCAN3	6	28327420	Silent	SNP	G	TCGA-CR-6492-01A-12D-2078-08	958533	28327420	142787647	28	33424											
DLK2	65989	broad.mit.edu	37	chr6	43418618	43418618	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccccgtggcaggtaccaCtacagctgaggtgggcccta	7	7	14	13	1	0	1	0	1	0	0	0	1	0	1	4	5	3	3	4	5	3	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr6:43418618C>G	ENST00000357338.3	-	6	1511	c.811G>C	c.(811-813)Gtg>Ctg	p.V271L	DLK2_ENST00000372488.3_Missense_Mutation_p.V271L|DLK2_ENST00000414245.1_Missense_Mutation_p.V265L|DLK2_ENST00000372485.1_Missense_Mutation_p.V265L	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	271						integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCAGGTACCACTACAGCTGAG	0.647													6	63					0	0	0	0	G	43418618	C	G	43418618	3	3	190	1	0	0	0	0	1	0	0	0	4602	565	20	4	344	4	DLK2	6	43418618	Missense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08	15091198	43418618	127696449	29	33425											
PRDM1	639	broad.mit.edu	37	chr6	106553695	106553695	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatctcattaaaaacaaaAgaaacatgaccggctacaag	20	7	6	8	1	1	3	1	2	1	1	2	3	1	3	1	1	3	1	1	1	9	2			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr6:106553695A>G	ENST00000369096.4	+	5	1894	c.1660A>G	c.(1660-1662)Aga>Gga	p.R554G	PRDM1_ENST00000369089.3_Missense_Mutation_p.R420G|PRDM1_ENST00000369091.2_Missense_Mutation_p.R518G	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	554					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TAAAAACAAAAGAAACATGAC	0.537			"D, N, Mis, F, S"		DLBCL								4	50					0	0	0	0	G	106553695	A	G	106553695	3	3	190	1	0	0	0	0	1	0	0	0	12530	64	3	5	1691	5	PRDM1	6	106553695	Missense_Mutation	SNP	A	TCGA-CR-6492-01A-12D-2078-08	63135077	106553695	64561372	30	33426											
SYNE1	23345	broad.mit.edu	37	chr6	152722368	152722368	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgttatgtcattaataaActtctccacttgtgtacttt	9	20	5	7	0	2	0	1	0	1	0	3	0	2	0	1	0	2	3	1	0	5	8	rs138004884	byFrequency	TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr6:152722368A>G	ENST00000367255.5	-	47	7535	c.6934T>C	c.(6934-6936)Ttt>Ctt	p.F2312L	SYNE1_ENST00000265368.4_Missense_Mutation_p.F2312L|SYNE1_ENST00000448038.1_Missense_Mutation_p.F2319L|SYNE1_ENST00000423061.1_Missense_Mutation_p.F2319L|SYNE1_ENST00000341594.5_Missense_Mutation_p.F2349L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2312					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCATTAATAAACTTCTCCACT	0.393										HNSCC(10;0.0054)			4	66					0	0	0	0	G	152722368	A	G	152722368	3	3	190	1	0	0	0	0	1	0	0	0	15536	43	2	5	19932	5	SYNE1	6	152722368	Missense_Mutation	SNP	A	TCGA-CR-6492-01A-12D-2078-08	46168673	152722368	18392699	31	33427											
NPSR1	387129	broad.mit.edu	37	chr7	34888178	34888178	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagacacccaggagcgtttcTatgcctctgtgatcattcag	9	11	9	12	1	4	2	2	1	2	1	4	3	4	3	2	1	2	1	2	1	1	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr7:34888178T>C	ENST00000360581.1	+	8	1056	c.928T>C	c.(928-930)Tat>Cat	p.Y310H	NPSR1_ENST00000381539.3_Missense_Mutation_p.Y310H|NPSR1_ENST00000531252.1_Missense_Mutation_p.Y299H|NPSR1_ENST00000381542.1_Missense_Mutation_p.Y244H|NPSR1_ENST00000359791.1_Missense_Mutation_p.Y310H	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	310						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GGAGCGTTTCTATGCCTCTGT	0.498													11	203					0	0	0	0	C	34888178	T	C	34888178	3	2	190	1	0	0	0	0	1	0	0	0	10671	1522	53	5	958	5	NPSR1	7	34888178	Missense_Mutation	SNP	T	TCGA-CR-6492-01A-12D-2078-08		34888178	124250485	32	33428											
TRIM24	8805	broad.mit.edu	37	chr7	138269634	138269634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagtgatgattcagatgatGactttgtacagccccggaag	11	12	11	7	1	1	5	1	4	0	1	1	6	1	6	2	1	2	1	2	1	3	4			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr7:138269634G>A	ENST00000343526.4	+	19	3306	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	TRIM24_ENST00000415680.2_Missense_Mutation_p.D997N			O15164	TIF1A_HUMAN	tripartite motif containing 24	1031					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTCAGATGATGACTTTGTACA	0.373													4	46					0	0	0	0	A	138269634	G	A	138269634	3	1	190	1	0	0	0	0	1	0	0	0	16593	1290	45	2	3165	2	TRIM24	7	138269634	Missense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08	103381456	138269634	20869029	33	33429											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	11					0	0	0	0	A	21971120	G	A	21971120	4	1	190	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08		21971120	119242311	34	33430											
TOPORS	10210	broad.mit.edu	37	chr9	32542338	32542338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagactgtctagaataatGagctctggacagagtcctcc	12	10	10	9	0	2	5	0	2	2	3	4	6	4	6	2	1	1	1	2	1	4	2			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr9:32542338G>A	ENST00000360538.2	-	3	2301	c.2185C>T	c.(2185-2187)Cat>Tat	p.H729Y	TOPORS_ENST00000379858.1_Missense_Mutation_p.H664Y	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	729	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CTAGAATAATGAGCTCTGGAC	0.378													10	154					0	0	0	0	A	32542338	G	A	32542338	3	1	190	1	0	0	0	0	1	0	0	0	16465	1290	45	2	956	2	TOPORS	9	32542338	Missense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08	10571218	32542338	108671093	35	33431											
NOTCH1	4851	broad.mit.edu	37	chr9	139412242	139412242	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaactccccaatctggtccAggcaggtggcgtcgttctgg	6	9	14	12	2	2	0	0	0	2	0	5	1	4	1	3	6	1	2	3	6	2	1			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr9:139412242A>C	ENST00000277541.6	-	8	1478	c.1403T>G	c.(1402-1404)cTg>cGg	p.L468R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	468	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AATCTGGTCCAGGCAGGTGGC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			9	56					0	0	0	0	C	139412242	A	C	139412242	3	2	190	1	0	0	0	0	1	0	0	0	10617	188	7	5	6372	5	NOTCH1	9	139412242	Missense_Mutation	SNP	A	TCGA-CR-6492-01A-12D-2078-08	106869904	139412242	1801189	36	33432											
ABCA2	20	broad.mit.edu	37	chr9	139906446	139906446	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccacgatgatgaagatggcGatgacgacatccgtgccctg	10	7	13	11	4	0	4	0	3	0	1	1	7	1	4	3	1	1	0	3	1	1	0			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr9:139906446G>A	ENST00000265662.5	-	35	5532	c.5385C>T	c.(5383-5385)atC>atT	p.I1795I	ABCA2_ENST00000371605.3_Silent_p.I1794I|ABCA2_ENST00000341511.6_Silent_p.I1795I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1794					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGAAGATGGCGATGACGACAT	0.637													4	48					0	0	0	0	A	139906446	G	A	139906446	2	1	190	1	0	0	0	0	0	0	0	1	32	1048	37	1		1	ABCA2	9	139906446	Silent	SNP	G	TCGA-CR-6492-01A-12D-2078-08	494204	139906446	1306985	37	33433											
DNMBP	23268	broad.mit.edu	37	chr10	101657950	101657950	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgggattctggggtggaaTtcagcaactccattagcaac	10	10	13	8	0	2	0	1	0	1	0	3	2	3	2	1	5	4	2	1	5	4	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr10:101657950T>A	ENST00000342239.3	-	9	2904	c.2813A>T	c.(2812-2814)aAt>aTt	p.N938I	DNMBP_ENST00000543621.1_Missense_Mutation_p.N184I|DNMBP_ENST00000324109.4_Missense_Mutation_p.N938I|DNMBP_ENST00000540316.1_5'UTR			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	938	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGGGGTGGAATTCAGCAACTC	0.438													11	73					0	0	0	0	A	101657950	T	A	101657950	3	1	190	1	0	0	0	0	1	0	0	0	4710	1493	52	5	1956	5	DNMBP	10	101657950	Missense_Mutation	SNP	T	TCGA-CR-6492-01A-12D-2078-08		101657950	33876797	38	33434											
TTC17	55761	broad.mit.edu	37	chr11	43513699	43513699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacttcactctgggcaatGtctacgtggcaatggtgaga	10	10	11	10	1	3	1	1	1	2	1	3	2	3	1	1	3	1	2	1	3	3	2			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr11:43513699G>T	ENST00000039989.4	+	23	3294	c.3280G>T	c.(3280-3282)Gtc>Ttc	p.V1094F		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1094							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTGGGCAATGTCTACGTGGC	0.478													9	86					1.12685e-05	1.2408e-05	1	0	T	43513699	G	T	43513699	3	4	190	1	0	0	0	0	1	0	0	0	16780	1377	48	4	3370	4	TTC17	11	43513699	Missense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08		43513699	91492817	39	33435											
OR5B12	390191	broad.mit.edu	37	chr11	58207492	58207492	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagtccagtagaatcaattCaatcatccccaggttcccaa	13	9	7	12	0	3	1	3	0	0	1	6	2	6	2	4	2	0	2	4	2	5	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr11:58207492C>G	ENST00000302572.2	-	1	154	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGAATCAATTCAATCATCCCC	0.488													5	49					0	0	0	0	G	58207492	C	G	58207492	3	3	190	1	0	0	0	0	1	0	0	0	11219	835	29	2	815	2	OR5B12	11	58207492	Missense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08	14693793	58207492	76799024	40	33436											
SNX15	29907	broad.mit.edu	37	chr11	64802351	64802351	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtgatcgaggagcggCgaaagggggcagaggacctg	10	4	18	9	3	1	2	1	1	0	1	2	6	1	4	2	5	1	1	2	5	1	0			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr11:64802351C>T	ENST00000377244.3	+	4	419	c.289C>T	c.(289-291)Cga>Tga	p.R97*	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	97	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	p.R97*(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CGAGGAGCGGCGAAAGGGGGC	0.622													4	48					0	0	0	0	T	64802351	C	T	64802351	4	4	190	1	0	0	0	0	0	1	0	0	14974	760	27	1	303	1	SNX15	11	64802351	Nonsense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08	6594859	64802351	70204165	41	33437											
MMP7	4316	broad.mit.edu	37	chr11	102401427	102401427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcacacagcacggtgagtCgcatagctgccgtccagaga	11	5	12	13	3	0	2	0	1	0	1	2	3	1	2	2	1	4	4	2	1	1	1			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr11:102401427C>T	ENST00000260227.4	-	1	57	c.5G>A	c.(4-6)cGa>cAa	p.R2Q		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	2					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R2Q(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		CACGGTGAGTCGCATAGCTGC	0.547													5	50					0	0	0	0	T	102401427	C	T	102401427	3	4	190	1	0	0	0	0	1	0	0	0	9737	884	31	1	822	1	MMP7	11	102401427	Missense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08	37599076	102401427	32605089	42	33438											
DSCAML1	57453	broad.mit.edu	37	chr11	117335745	117335745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaccaccccatactgggCgaacttcttgaggttgtcca	9	9	9	14	1	1	1	0	1	1	0	2	3	2	1	5	2	2	1	5	2	2	4			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr11:117335745C>T	ENST00000321322.6	-	17	3359	c.3358G>A	c.(3358-3360)Gcc>Acc	p.A1120T	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A850T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1060	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCATACTGGGCGAACTTCTTG	0.622													6	92					0	0	0	0	T	117335745	C	T	117335745	3	4	190	1	0	0	0	0	1	0	0	0	4805	768	27	1	3051	1	DSCAML1	11	117335745	Missense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08	14934318	117335745	17670771	43	33439											
AMIGO2	347902	broad.mit.edu	37	chr12	47472579	47472579	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaggtccagtctcttaatCagtctgaaaaggttcccagg	10	11	9	11	0	4	1	2	1	2	0	7	1	6	1	2	3	0	1	2	3	3	2			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr12:47472579C>T	ENST00000266581.4	-	2	673	c.207G>A	c.(205-207)ctG>ctA	p.L69L	AMIGO2_ENST00000429635.1_Silent_p.L69L|AMIGO2_ENST00000550413.1_Silent_p.L69L|AMIGO2_ENST00000321382.3_Silent_p.L69L	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	69					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GTCTCTTAATCAGTCTGAAAA	0.493													7	66					0	0	0	0	T	47472579	C	T	47472579	2	4	190	1	0	0	0	0	0	0	0	1	576	813	29	2		2	AMIGO2	12	47472579	Silent	SNP	C	TCGA-CR-6492-01A-12D-2078-08		47472579	86379316	44	33440											
VDR	7421	broad.mit.edu	37	chr12	48238570	48238570	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttcgagcacaaggggcgTtagcttcatgctgcactcag	9	9	11	12	2	2	0	2	0	0	0	3	1	2	0	0	2	4	5	0	2	2	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr12:48238570T>C	ENST00000229022.3	-	11	1524	c.1243A>G	c.(1243-1245)Acg>Gcg	p.T415A	VDR_ENST00000550325.1_Missense_Mutation_p.T465A|VDR_ENST00000549336.1_Missense_Mutation_p.T415A|VDR_ENST00000395324.2_Missense_Mutation_p.T415A|VDR_ENST00000535672.1_Missense_Mutation_p.T383A	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	415	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ACAAGGGGCGTTAGCTTCATG	0.607													4	31					0	0	0	0	C	48238570	T	C	48238570	3	2	190	1	0	0	0	0	1	0	0	0	17245	1725	60	5	44	5	VDR	12	48238570	Missense_Mutation	SNP	T	TCGA-CR-6492-01A-12D-2078-08	765991	48238570	85613325	45	33441											
TENC1	23371	broad.mit.edu	37	chr12	53455639	53455639	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaccctggggccttcctGatcagggacagtcattcatt	9	10	11	11	0	3	1	3	1	0	0	4	3	4	3	3	4	0	0	3	4	1	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr12:53455639G>A	ENST00000314250.6	+	22	3779	c.3489G>A	c.(3487-3489)ctG>ctA	p.L1163L	TENC1_ENST00000314276.3_Silent_p.L1173L|TENC1_ENST00000546602.1_Silent_p.L1066L|TENC1_ENST00000451358.1_Silent_p.L1153L|TENC1_ENST00000549700.1_Silent_p.L1098L|TENC1_ENST00000379902.3_Silent_p.L1039L|TENC1_ENST00000552570.1_Silent_p.L1163L	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1163	SH2.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGGCCTTCCTGATCAGGGACA	0.617													12	139					0	0	0	0	A	53455639	G	A	53455639	2	1	190	1	0	0	0	0	0	0	0	1	15852	1277	45	2		2	TENC1	12	53455639	Silent	SNP	G	TCGA-CR-6492-01A-12D-2078-08	5217069	53455639	80396256	46	33442											
RARG	5916	broad.mit.edu	37	chr12	53609131	53609131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagccggcagtactggcagcGattcctggtcaccttgttga	7	11	12	11	2	1	1	1	1	0	0	2	2	2	1	3	3	3	4	3	3	2	5			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr12:53609131G>A	ENST00000425354.2	-	5	908	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	RARG_ENST00000327550.3_Missense_Mutation_p.R69C|RARG_ENST00000394426.1_Missense_Mutation_p.R141C|RARG_ENST00000543726.1_Missense_Mutation_p.R119C|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000338561.5_Missense_Mutation_p.R130C	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	141					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TACTGGCAGCGATTCCTGGTC	0.552													8	85					0	0	0	0	A	53609131	G	A	53609131	3	1	190	1	0	0	0	0	1	0	0	0	13136	1058	37	1	967	1	RARG	12	53609131	Missense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08	153492	53609131	80242764	47	33443											
IFT81	28981	broad.mit.edu	37	chr12	110574583	110574583	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaattgtattttaaagctAtttcatgcagtgcaaagatt	13	18	6	4	0	1	1	1	0	0	1	1	1	1	1	0	0	3	4	0	0	6	9			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr12:110574583A>G	ENST00000242591.5	+	8	1205	c.699A>G	c.(697-699)ctA>ctG	p.L233L	IFT81_ENST00000361948.4_Silent_p.L233L|IFT81_ENST00000552912.1_Silent_p.L233L	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	233					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TTTTAAAGCTATTTCATGCAG	0.348													3	21					0	0	0	0	G	110574583	A	G	110574583	2	3	190	1	0	0	0	0	0	0	0	1	7618	436	16	5		5	IFT81	12	110574583	Silent	SNP	A	TCGA-CR-6492-01A-12D-2078-08	56965452	110574583	23277312	48	33444											
AKAP6	9472	broad.mit.edu	37	chr14	33292535	33292535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagcagtgagatgaccaatcCctctgatactctgaatattg	12	12	8	9	0	2	4	0	4	2	1	3	5	3	4	2	0	2	1	2	0	5	4			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr14:33292535C>G	ENST00000280979.4	+	13	5686	c.5516C>G	c.(5515-5517)cCc>cGc	p.P1839R	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1839			P -> T (in a colorectal cancer sample; somatic mutation).		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)		ATGACCAATCCCTCTGATACT	0.373													4	75					0	0	0	0	G	33292535	C	G	33292535	3	3	190	1	0	0	0	0	1	0	0	0	455	623	22	4	5562	4	AKAP6	14	33292535	Missense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08		33292535	74057005	49	33445											
SLC8A3	6547	broad.mit.edu	37	chr14	70633915	70633915	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagtacagccccacagttctCcaggcactggtaagaacatg	12	7	10	12	0	1	1	0	0	1	1	2	2	1	1	3	2	3	4	3	2	3	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr14:70633915C>G	ENST00000381269.2	-	2	1978	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	SLC8A3_ENST00000357887.3_Missense_Mutation_p.E409Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E409Q|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E409Q|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E409Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	409	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCACAGTTCTCCAGGCACTGG	0.512													15	106					0	0	0	0	G	70633915	C	G	70633915	3	3	190	1	0	0	0	0	1	0	0	0	14796	864	30	2	1697	2	SLC8A3	14	70633915	Missense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08	37341380	70633915	36715625	50	33446											
YY1	7528	broad.mit.edu	37	chr14	100728656	100728656	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagatgaaaaaaaagataTtgaccatgagacagtggttg	17	10	10	4	0	1	5	1	3	0	3	1	6	1	5	1	1	0	1	1	1	5	4			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr14:100728656T>C	ENST00000262238.4	+	2	955	c.695T>C	c.(694-696)aTt>aCt	p.I232T		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	232					cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AAAAAAGATATTGACCATGAG	0.333													4	47					0	0	0	0	C	100728656	T	C	100728656	3	2	190	1	0	0	0	0	1	0	0	0	17603	1493	52	5	701	5	YY1	14	100728656	Missense_Mutation	SNP	T	TCGA-CR-6492-01A-12D-2078-08	30094741	100728656	6620884	51	33447											
ATP10A	57194	broad.mit.edu	37	chr15	26026297	26026297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtccgcagggaagatttCgttgcagcgaagacgcacaa	13	7	12	9	4	0	2	0	0	0	2	2	4	1	3	1	1	2	4	1	1	4	2			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr15:26026297C>T	ENST00000356865.6	-	2	634	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	175					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.E175K(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGAAGATTTCGTTGCAGCGA	0.498													3	33					0	0	0	0	T	26026297	C	T	26026297	3	4	190	1	0	0	0	0	1	0	0	0	1120	893	31	1	4056	1	ATP10A	15	26026297	Missense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08		26026297	76505095	52	33448											
TLN2	83660	broad.mit.edu	37	chr15	62942335	62942335	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacccgaggaaagggatttgGctggaagcgggcagaacact	12	5	16	8	2	0	1	0	0	0	1	0	6	0	4	1	5	2	2	1	5	3	1			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr15:62942335G>A	ENST00000561311.1	+	4	419	c.189G>A	c.(187-189)tgG>tgA	p.W63*	TLN2_ENST00000306829.6_Nonsense_Mutation_p.W63*			Q9Y4G6	TLN2_HUMAN	talin 2	63					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAGGGATTTGGCTGGAAGCGG	0.478													7	87					0	0	0	0	A	62942335	G	A	62942335	4	1	190	1	0	0	0	0	0	1	0	0	16042	1212	42	4	195	4	TLN2	15	62942335	Nonsense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08	36916038	62942335	39589057	53	33449											
TRAP1	10131	broad.mit.edu	37	chr16	3736066	3736066	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctggcagtgcttggccGtcagacaccagtttgtgacg	7	12	12	10	2	2	2	1	1	1	1	2	2	2	2	2	2	1	3	2	2	0	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr16:3736066G>A	ENST00000246957.5	-	4	490	c.402C>T	c.(400-402)gaC>gaT	p.D134D	TRAP1_ENST00000538171.1_Silent_p.D81D	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	134					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GTGCTTGGCCGTCAGACACCA	0.532													4	58					0	0	0	0	A	3736066	G	A	3736066	2	1	190	1	0	0	0	0	0	0	0	1	16550	1136	40	1		1	TRAP1	16	3736066	Silent	SNP	G	TCGA-CR-6492-01A-12D-2078-08		3736066	86618687	54	33450											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25255343	25255343	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgcccgagagttaatcaGggcatccatctccttgtaga	11	10	10	10	1	2	3	1	0	1	3	4	4	3	3	3	1	1	3	3	1	2	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr16:25255343G>C	ENST00000328086.7	-	6	2547	c.1744C>G	c.(1744-1746)Ctg>Gtg	p.L582V		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	582					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GAGTTAATCAGGGCATCCATC	0.532													7	59					0	0	0	0	C	25255343	G	C	25255343	3	2	190	1	0	0	0	0	1	0	0	0	17782	991	35	4	1167	4	ZKSCAN2	16	25255343	Missense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08	21519277	25255343	65099410	55	33451											
ZNF668	79759	broad.mit.edu	37	chr16	31075507	31075507	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgggtgccgtcttgtaggCcttggggcatagcggacacg	5	9	16	11	4	1	0	0	0	1	0	2	1	1	1	2	5	2	2	2	5	2	4			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr16:31075507C>G	ENST00000538906.1	-	2	1058	c.274G>C	c.(274-276)Gcc>Ccc	p.A92P	ZNF668_ENST00000394983.2_Missense_Mutation_p.A92P|ZNF668_ENST00000300849.4_Missense_Mutation_p.A92P|ZNF668_ENST00000535577.1_Missense_Mutation_p.A92P|ZNF668_ENST00000539836.3_Missense_Mutation_p.A115P|ZNF668_ENST00000426488.2_Missense_Mutation_p.A115P	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GTCTTGTAGGCCTTGGGGCAT	0.667													5	38					0	0	0	0	G	31075507	C	G	31075507	3	3	190	1	0	0	0	0	1	0	0	0	18170	739	26	4	1593	4	ZNF668	16	31075507	Missense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08	5820164	31075507	59279246	56	33452											
MYH13	8735	broad.mit.edu	37	chr17	10209914	10209914	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtgggcgctggtgtcctgTtccttctttagctcctcagc	3	14	12	12	1	2	0	1	0	1	0	5	0	5	0	3	3	2	3	3	3	1	4			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr17:10209914T>C	ENST00000418404.3	-	36	5491	c.5328A>G	c.(5326-5328)gaA>gaG	p.E1776E	MYH13_ENST00000570743.1_Silent_p.E1776E|MYH13_ENST00000252172.4_Silent_p.E1776E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1776					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGTGTCCTGTTCCTTCTTTA	0.577													9	96					0	0	0	0	C	10209914	T	C	10209914	2	2	190	1	0	0	0	0	0	0	0	1	10102	1722	60	5		5	MYH13	17	10209914	Silent	SNP	T	TCGA-CR-6492-01A-12D-2078-08		10209914	70985296	57	33453											
FAM83G	644815	broad.mit.edu	37	chr17	18882983	18882983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgctccgcactctgaGattctgttttgggaaccaag	7	11	10	13	2	2	1	0	1	2	1	3	3	3	2	3	1	2	4	3	1	2	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr17:18882983G>T	ENST00000388995.6	-	4	917	c.694C>A	c.(694-696)Ctc>Atc	p.L232I	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.L232I|FAM83G_ENST00000345041.4_Missense_Mutation_p.L232I|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	232										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CGCACTCTGAGATTCTGTTTT	0.587													6	89					0.00448238	0.00482718	1	0	T	18882983	G	T	18882983	3	4	190	1	0	0	0	0	1	0	0	0	5685	942	33	2	1789	2	FAM83G	17	18882983	Missense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08	8673069	18882983	62312227	58	33454											
VAV1	7409	broad.mit.edu	37	chr19	6829898	6829898	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcttccaggttcgggAtgactcttcaggagaccgag	9	8	13	11	2	2	2	1	1	1	1	4	5	3	3	2	3	1	3	2	3	0	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr19:6829898A>T	ENST00000304076.2	+	14	1461	c.1367A>T	c.(1366-1368)gAt>gTt	p.D456V	VAV1_ENST00000599806.1_Missense_Mutation_p.D401V|VAV1_ENST00000602142.1_Missense_Mutation_p.D456V|VAV1_ENST00000596764.1_Missense_Mutation_p.D424V|VAV1_ENST00000539284.1_Missense_Mutation_p.D359V	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	456	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGGTTCGGGATGACTCTTCA	0.552													4	61					0	0	0	0	T	6829898	A	T	6829898	3	4	190	1	0	0	0	0	1	0	0	0	17227	333	12	5	1421	5	VAV1	19	6829898	Missense_Mutation	SNP	A	TCGA-CR-6492-01A-12D-2078-08		6829898	52299085	59	33455											
KEAP1	9817	broad.mit.edu	37	chr19	10597384	10597384	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagggctccatggtgacagCcacgcccaccccactccggc	7	4	11	19	2	0	1	0	1	0	0	2	1	2	1	6	3	1	2	6	3	0	0			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr19:10597384C>G	ENST00000171111.5	-	6	2366	c.1819G>C	c.(1819-1821)Gct>Cct	p.A607P	KEAP1_ENST00000393623.2_Missense_Mutation_p.A607P	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ATGGTGACAGCCACGCCCACC	0.557													8	122					0	0	0	0	G	10597384	C	G	10597384	3	3	190	1	0	0	0	0	1	0	0	0	8193	739	26	4	59	4	KEAP1	19	10597384	Missense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08	3767486	10597384	48531599	60	33456											
ZNF563	147837	broad.mit.edu	37	chr19	12429679	12429679	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaggtccacctccagtgTgcattatcatgtgtcttcga	8	14	9	10	1	2	1	1	1	1	0	5	2	4	1	3	1	1	1	3	1	2	3			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr19:12429679T>A	ENST00000293725.5	-	4	1365	c.1160A>T	c.(1159-1161)cAc>cTc	p.H387L		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACCTCCAGTGTGCATTATCAT	0.418													13	144					0	0	0	0	A	12429679	T	A	12429679	3	1	190	1	0	0	0	0	1	0	0	0	18089	1696	59	5	274	5	ZNF563	19	12429679	Missense_Mutation	SNP	T	TCGA-CR-6492-01A-12D-2078-08	1832295	12429679	46699304	61	33457											
GADD45GIP1	90480	broad.mit.edu	37	chr19	13065144	13065144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcttgcgctccttcttctCtaggtcctggagcagctcct	3	13	10	15	2	2	0	0	0	2	0	6	1	5	1	3	2	3	4	3	2	1	4			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr19:13065144C>T	ENST00000316939.1	-	2	570	c.547G>A	c.(547-549)Gag>Aag	p.E183K		NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	183					cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						TCCTTCTTCTCTAGGTCCTGG	0.627													6	101					0	0	0	0	T	13065144	C	T	13065144	3	4	190	1	0	0	0	0	1	0	0	0	6232	922	32	2	125	2	GADD45GIP1	19	13065144	Missense_Mutation	SNP	C	TCGA-CR-6492-01A-12D-2078-08	635465	13065144	46063839	62	33458											
CYTH2	9266	broad.mit.edu	37	chr19	48981788	48981788	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggtggagggaaaccacAtggtgtaccggatctcggcc	9	7	16	9	2	1	0	0	0	1	0	2	4	1	3	3	6	2	1	3	6	2	1	rs144064799		TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr19:48981788A>G	ENST00000427476.1	+	11	1354	c.1054A>G	c.(1054-1056)Atg>Gtg	p.M352V	CYTH2_ENST00000452733.2_Missense_Mutation_p.M351V	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	352	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGGAAACCACATGGTGTACCG	0.592													3	54					0	0	0	0	G	48981788	A	G	48981788	3	3	190	1	0	0	0	0	1	0	0	0	4236	217	8	5	1096	5	CYTH2	19	48981788	Missense_Mutation	SNP	A	TCGA-CR-6492-01A-12D-2078-08	35916644	48981788	10147195	63	33459											
NUP62	23636	broad.mit.edu	37	chr19	50412820	50412820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatccagttccccccgaaGcaagagtcgctgttccaaaa	14	7	7	13	2	0	1	0	0	0	1	4	2	3	1	5	0	1	4	5	0	6	2			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr19:50412820G>A	ENST00000596217.1	-	2	2132	c.245C>T	c.(244-246)gCt>gTt	p.A82V	NUP62_ENST00000413454.1_Missense_Mutation_p.A82V|NUP62_ENST00000597723.1_Missense_Mutation_p.A82V|NUP62_ENST00000422090.2_Missense_Mutation_p.A82V|NUP62_ENST00000352066.3_Missense_Mutation_p.A82V|NUP62_ENST00000597029.1_Missense_Mutation_p.A82V|IL4I1_ENST00000341114.3_Intron|CTC-326K19.6_ENST00000451973.1_3'UTR|IL4I1_ENST00000595948.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	82	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCCCCCCGAAGCAAGAGTCGC	0.577													14	131					0	0	0	0	A	50412820	G	A	50412820	3	1	190	1	0	0	0	0	1	0	0	0	10839	971	34	4	1327	4	NUP62	19	50412820	Missense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08	1431032	50412820	8716163	64	33460											
APCDD1L	164284	broad.mit.edu	37	chr20	57035940	57035940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctggggtgcttctgcagcGatggcctgtgctgcggtggc	2	11	18	10	2	1	0	0	0	1	0	1	1	1	0	1	5	6	4	1	5	0	1	rs147052922	byFrequency	TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr20:57035940G>A	ENST00000371149.3	-	4	1642	c.1412C>T	c.(1411-1413)tCg>tTg	p.S471L	APCDD1L_ENST00000439429.1_Missense_Mutation_p.S482L	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	471						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CTTCTGCAGCGATGGCCTGTG	0.627													4	63					0	0	0	0	A	57035940	G	A	57035940	3	1	190	1	0	0	0	0	1	0	0	0	767	1059	37	1	97	1	APCDD1L	20	57035940	Missense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08		57035940	5989580	65	33461											
BRWD1	54014	broad.mit.edu	37	chr21	40568320	40568320	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactcttttagattttgcAtagtccaaatcctcccagtc	11	14	5	11	0	1	2	0	0	1	2	5	2	4	2	3	0	2	1	3	0	4	5			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr21:40568320A>G	ENST00000342449.3	-	41	6753	c.6675T>C	c.(6673-6675)taT>taC	p.Y2225Y	BRWD1_ENST00000333229.2_Intron|BRWD1_ENST00000380800.3_Intron	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TAGATTTTGCATAGTCCAAAT	0.383													7	110					0	0	0	0	G	40568320	A	G	40568320	2	3	190	1	0	0	0	0	0	0	0	1	1533	224	8	5		5	BRWD1	21	40568320	Silent	SNP	A	TCGA-CR-6492-01A-12D-2078-08		40568320	7561575	66	33462											
UBE2G2	7327	broad.mit.edu	37	chr21	46193489	46193489	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgctcaccaccgacagcaGgatcttctccacactctgca	10	8	6	17	1	4	0	1	0	3	0	5	2	4	1	3	1	3	3	3	1	0	1			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr21:46193489G>A	ENST00000345496.2	-	5	628	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_Silent_p.L92L	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	120					protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		ACCGACAGCAGGATCTTCTCC	0.637													4	35					0	0	0	0	A	46193489	G	A	46193489	2	1	190	1	0	0	0	0	0	0	0	1	16953	991	35	4		4	UBE2G2	21	46193489	Silent	SNP	G	TCGA-CR-6492-01A-12D-2078-08	5625169	46193489	1936406	67	33463											
COL18A1	80781	broad.mit.edu	37	chr21	46875807	46875807	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgaacgtggccaaaggcatCcggagcttcgtccagctgtg	8	8	13	12	3	0	1	0	1	0	0	3	2	2	2	3	3	3	3	3	3	2	1			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr21:46875807C>T	ENST00000359759.4	+	1	384	c.363C>T	c.(361-363)atC>atT	p.I121I	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Silent_p.I121I			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	121					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCAAAGGCATCCGGAGCTTCG	0.642													8	80					0	0	0	0	T	46875807	C	T	46875807	2	4	190	1	0	0	0	0	0	0	0	1	3705	845	30	2		2	COL18A1	21	46875807	Silent	SNP	C	TCGA-CR-6492-01A-12D-2078-08	682318	46875807	1254088	68	33464											
MCM3AP	8888	broad.mit.edu	37	chr21	47700039	47700039	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccttcagggaaaagggtTtcttattggggcctgtggac	7	13	13	8	0	3	0	1	0	2	0	4	2	3	2	2	5	0	1	2	5	3	4			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr21:47700039T>A	ENST00000397708.1	-	5	1789	c.1535A>T	c.(1534-1536)aAa>aTa	p.K512I	MCM3AP_ENST00000291688.1_Missense_Mutation_p.K512I			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	512					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGAAAAGGGTTTCTTATTGGG	0.483													8	126					0	0	0	0	A	47700039	T	A	47700039	3	1	190	1	0	0	0	0	1	0	0	0	9457	1841	64	5	4507	5	MCM3AP	21	47700039	Missense_Mutation	SNP	T	TCGA-CR-6492-01A-12D-2078-08	824232	47700039	429856	69	33465											
C22orf29	79680	broad.mit.edu	37	chr22	19839545	19839545	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgtgcccagctaggggAcccctttctgcaggtttacc	6	10	12	13	0	1	0	0	0	1	0	1	1	1	1	4	4	4	4	4	4	2	4			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chr22:19839545A>T	ENST00000405640.1	-	2	908	c.240T>A	c.(238-240)ggT>ggA	p.G80G	GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000407472.1_Silent_p.G80G|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Silent_p.G80G			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	80										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CAGCTAGGGGACCCCTTTCTG	0.627													11	50					0	0	0	0	T	19839545	A	T	19839545	2	4	190	1	0	0	0	0	0	0	0	1	2161	262	10	5		5	C22orf29	22	19839545	Silent	SNP	A	TCGA-CR-6492-01A-12D-2078-08		19839545	31465021	70	33466											
PRICKLE3	4007	broad.mit.edu	37	chrX	49032203	49032203	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagccatcatcctctgatGattcggaactggaactggag	12	9	11	9	1	2	3	1	2	1	1	4	6	3	6	2	3	3	0	2	3	3	1			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chrX:49032203G>T	ENST00000376317.3	-	9	1761	c.1667C>A	c.(1666-1668)tCa>tAa	p.S556*	PRICKLE3_ENST00000538114.1_Nonsense_Mutation_p.S380*|PRICKLE3_ENST00000540849.1_Nonsense_Mutation_p.S488*|PRICKLE3_ENST00000536904.1_Nonsense_Mutation_p.S475*	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	556	Poly-Ser.						protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						ATCCTCTGATGATTCGGAACT	0.577													15	75					1.15088e-07	1.28166e-07	1	0	T	49032203	G	T	49032203	4	4	190	1	0	0	0	0	0	1	0	0	12568	1294	45	2	184	2	PRICKLE3	23	49032203	Nonsense_Mutation	SNP	G	TCGA-CR-6492-01A-12D-2078-08		49032203	106238357	71	33467											
HCFC1	3054	broad.mit.edu	37	chrX	153215722	153215722	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacctcacttgtgtggccggGccatagcccttctcattgcg	5	11	10	15	2	2	0	2	0	1	0	3	0	2	0	4	2	2	0	4	2	1	4			TCGA-CR-6492-01A-12D-2078-08	TCGA-CR-6492-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4550d39-4f32-48ab-b049-2fe623332d07	b2e7e876-1d03-4a50-bfb4-1e5865600181	g.chrX:153215722G>C	ENST00000310441.7	-	24	6942	c.5976C>G	c.(5974-5976)ggC>ggG	p.G1992G	HCFC1_ENST00000369984.4_Silent_p.G2037G|HCFC1_ENST00000354233.3_Silent_p.G1923G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1992					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGGCCGGGCCATAGCCCT	0.632													7	32					0	0	0	0	C	153215722	G	C	153215722	2	2	190	1	0	0	0	0	0	0	0	1	7041	1190	42	4		4	HCFC1	23	153215722	Silent	SNP	G	TCGA-CR-6492-01A-12D-2078-08	104183519	153215722	2054838	72	33468											
CDK11A	728642	broad.mit.edu	37	chr1	1650803	1650803	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctatgatgcctacatttttCttttctcttttcatcttttc	5	23	3	10	0	4	1	1	1	3	0	6	1	4	1	1	0	2	1	1	0	2	10			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:1650803C>G	ENST00000356200.3	-	3	451	c.217G>C	c.(217-219)Gaa>Caa	p.E73Q	CDK11A_ENST00000357760.2_Missense_Mutation_p.E107Q|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000404249.3_Missense_Mutation_p.E107Q|CDK11A_ENST00000378633.1_Missense_Mutation_p.E107Q|CDK11A_ENST00000378635.3_Missense_Mutation_p.E107Q|CDK11A_ENST00000358779.5_Missense_Mutation_p.E107Q|CDK11A_ENST00000378638.2_Missense_Mutation_p.E73Q					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CTACATTTTTCTTTTCTCTTT	0.388													38	128					0	0	0	0	G	1650803	C	G	1650803	3	3	191	1	0	0	0	0	1	0	0	0	3155	922	32	2	2091	2	CDK11A	1	1650803	Missense_Mutation	SNP	C	TCGA-CR-6493-01A-11D-1870-08		1650803	247599818	1	33469											
KIF2C	11004	broad.mit.edu	37	chr1	45206652	45206652	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttcagtggaatgggcAgaaggaggtgccacaaaggg	11	8	17	5	0	1	1	1	0	0	1	1	3	1	3	1	5	1	2	1	5	3	1			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:45206652A>C	ENST00000372224.4	+	2	251	c.138A>C	c.(136-138)gcA>gcC	p.A46A	KIF2C_ENST00000372218.4_Silent_p.A46A|KIF2C_ENST00000493027.1_3'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	46	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TGGAATGGGCAGAAGGAGGTG	0.413													11	11					0	0	0	0	C	45206652	A	C	45206652	2	2	191	1	0	0	0	0	0	0	0	1	8350	175	7	5		5	KIF2C	1	45206652	Silent	SNP	A	TCGA-CR-6493-01A-11D-1870-08	43555849	45206652	204043969	2	33470											
COL11A1	1301	broad.mit.edu	37	chr1	103461591	103461591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caataggaccttgtggaccaGggggaccctgaaatagatga	13	7	13	8	0	0	3	0	2	0	1	0	6	0	6	3	4	0	0	3	4	4	3			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:103461591G>A	ENST00000358392.2	-	27	2602	c.2285C>T	c.(2284-2286)cCt>cTt	p.P762L	COL11A1_ENST00000353414.4_Missense_Mutation_p.P711L|COL11A1_ENST00000370096.3_Missense_Mutation_p.P750L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P634L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	750	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGTGGACCAGGGGGACCCTG	0.358													23	87					0	0	0	0	A	103461591	G	A	103461591	3	1	191	1	0	0	0	0	1	0	0	0	3697	1000	35	4	3335	4	COL11A1	1	103461591	Missense_Mutation	SNP	G	TCGA-CR-6493-01A-11D-1870-08	58254939	103461591	145789030	3	33471											
PMVK	10654	broad.mit.edu	37	chr1	154897618	154897618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagtgactaaagtctggagCggataaattctatcaggttc	12	12	10	7	1	3	1	1	1	2	0	4	3	3	3	0	3	1	1	0	3	6	6			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:154897618C>T	ENST00000368467.3	-	5	871	c.566G>A	c.(565-567)cGc>cAc	p.R189H		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	189					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGTCTGGAGCGGATAAATTC	0.572													68	116					0	0	0	0	T	154897618	C	T	154897618	3	4	191	1	0	0	0	0	1	0	0	0	12216	768	27	1	16	1	PMVK	1	154897618	Missense_Mutation	SNP	C	TCGA-CR-6493-01A-11D-1870-08	51436027	154897618	94353003	4	33472											
CACNA1E	777	broad.mit.edu	37	chr1	181767512	181767512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcggcagctcccacccGtcccgccaaagccccggccc	5	4	10	22	5	0	0	0	0	0	0	4	0	2	0	7	2	2	2	7	2	1	0			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:181767512G>A	ENST00000526775.1	+	46	6463	c.6298G>A	c.(6298-6300)Gtc>Atc	p.V2100I	CACNA1E_ENST00000367570.1_Missense_Mutation_p.V2119I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V2162I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1726I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V2113I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V2051I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V2143I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2162					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTCCCACCCGTCCCGCCAAA	0.627													43	94					0	0	0	0	A	181767512	G	A	181767512	3	1	191	1	0	0	0	0	1	0	0	0	2567	1145	40	1	6541	1	CACNA1E	1	181767512	Missense_Mutation	SNP	G	TCGA-CR-6493-01A-11D-1870-08	26869894	181767512	67483109	5	33473											
PTPRC	5788	broad.mit.edu	37	chr1	198711143	198711143	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcagtggtcccattgTggtgcactgcaggtaggaaa	8	13	12	8	0	2	0	1	0	1	0	3	1	3	1	1	4	2	3	1	4	2	4			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:198711143T>C	ENST00000367376.2	+	24	2714	c.2543T>C	c.(2542-2544)gTg>gCg	p.V848A	PTPRC_ENST00000352140.3_Missense_Mutation_p.V800A|PTPRC_ENST00000348564.6_Missense_Mutation_p.V689A|PTPRC_ENST00000594404.1_Missense_Mutation_p.V687A|PTPRC_ENST00000442510.2_Missense_Mutation_p.V850A	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	848	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGTCCCATTGTGGTGCACTGC	0.473													5	22					0	0	0	0	C	198711143	T	C	198711143	3	2	191	1	0	0	0	0	1	0	0	0	12879	1696	59	5	2644	5	PTPRC	1	198711143	Missense_Mutation	SNP	T	TCGA-CR-6493-01A-11D-1870-08	16943631	198711143	50539478	6	33474											
LTBP1	4052	broad.mit.edu	37	chr2	33623487	33623487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgcaagaatgccaagTgcattaacaccgatggttcc	11	10	8	12	1	1	1	0	0	1	1	3	2	2	1	3	1	4	3	3	1	4	2			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr2:33623487T>C	ENST00000404816.2	+	34	5394	c.5041T>C	c.(5041-5043)Tgc>Cgc	p.C1681R	LTBP1_ENST00000354476.3_Missense_Mutation_p.C1682R|LTBP1_ENST00000272273.5_Missense_Mutation_p.C579R|LTBP1_ENST00000407925.1_Missense_Mutation_p.C1355R|LTBP1_ENST00000404525.1_Missense_Mutation_p.C1302R|LTBP1_ENST00000418533.2_Missense_Mutation_p.C1313R|LTBP1_ENST00000390003.4_Missense_Mutation_p.C1356R|LTBP1_ENST00000402934.1_Missense_Mutation_p.C1300R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1681	EGF-like 18; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAATGCCAAGTGCATTAACAC	0.438													40	50					0	0	0	0	C	33623487	T	C	33623487	3	2	191	1	0	0	0	0	1	0	0	0	9137	1696	59	5	5230	5	LTBP1	2	33623487	Missense_Mutation	SNP	T	TCGA-CR-6493-01A-11D-1870-08		33623487	209575886	7	33475											
CYP27C1	339761	broad.mit.edu	37	chr2	127958736	127958736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggacctgcagaattccCgccagggctttgggatgaag	9	7	13	12	1	0	2	0	1	0	1	1	4	1	4	4	3	1	2	4	3	2	2			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr2:127958736C>T	ENST00000335247.7	-	3	480	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	CYP27C1_ENST00000409327.1_Missense_Mutation_p.R117Q	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	117						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GCAGAATTCCCGCCAGGGCTT	0.522													64	118					0	0	0	0	T	127958736	C	T	127958736	3	4	191	1	0	0	0	0	1	0	0	0	4192	652	23	1	792	1	CYP27C1	2	127958736	Missense_Mutation	SNP	C	TCGA-CR-6493-01A-11D-1870-08	94335249	127958736	115240637	8	33476											
CPS1	1373	broad.mit.edu	37	chr2	211441130	211441130	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctcacaatggccaacccTattattgggaatggtggagc	11	11	10	9	0	1	0	1	0	1	0	2	2	1	2	2	4	2	0	2	4	5	4			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr2:211441130T>C	ENST00000233072.5	+	3	493	c.297T>C	c.(295-297)ccT>ccC	p.P99P	CPS1_ENST00000430249.2_Silent_p.P105P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	99	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGGCCAACCCTATTATTGGGA	0.428													3	117					0	0	0	0	C	211441130	T	C	211441130	2	2	191	1	0	0	0	0	0	0	0	1	3853	1509	53	5		5	CPS1	2	211441130	Silent	SNP	T	TCGA-CR-6493-01A-11D-1870-08	83482394	211441130	31758243	9	33477											
NKTR	4820	broad.mit.edu	37	chr3	42676726	42676726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaagcgctatcacacacCtccaagatcaagatcctgtt	13	11	5	12	1	2	2	2	0	0	2	4	2	4	2	3	0	1	2	3	0	5	4			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr3:42676726C>G	ENST00000232978.8	+	12	1219	c.1031C>G	c.(1030-1032)cCt>cGt	p.P344R	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	344					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TATCACACACCTCCAAGATCA	0.398													31	9					0	0	0	0	G	42676726	C	G	42676726	3	3	191	1	0	0	0	0	1	0	0	0	10518	681	24	4	1073	4	NKTR	3	42676726	Missense_Mutation	SNP	C	TCGA-CR-6493-01A-11D-1870-08		42676726	155345704	10	33478											
NKTR	4820	broad.mit.edu	37	chr3	42680280	42680280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgaagaggaggaggaGgagattgatgacaagcaagt	14	8	17	2	0	0	5	0	3	0	2	0	9	0	8	0	5	1	1	0	5	3	2			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr3:42680280G>T	ENST00000232978.8	+	13	3272	c.3084G>T	c.(3082-3084)gaG>gaT	p.E1028D	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1028					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGGAGGAGGAGGAGATTGATG	0.358													48	22					2.74695e-27	3.19645e-27	1	0	T	42680280	G	T	42680280	3	4	191	1	0	0	0	0	1	0	0	0	10518	991	35	4	3130	4	NKTR	3	42680280	Missense_Mutation	SNP	G	TCGA-CR-6493-01A-11D-1870-08	3554	42680280	155342150	11	33479											
BOC	91653	broad.mit.edu	37	chr3	112993314	112993314	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaccctgagcagatgctgAgggggcaaccggcgctcccc	8	4	14	15	2	0	3	0	2	0	1	1	3	1	3	4	3	4	5	4	3	2	0			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr3:112993314A>G	ENST00000495514.1	+	9	2031	c.1327A>G	c.(1327-1329)Agg>Ggg	p.R443G	BOC_ENST00000273395.4_Missense_Mutation_p.R443G|BOC_ENST00000355385.3_Missense_Mutation_p.R443G			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	443					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCAGATGCTGAGGGGGCAACC	0.652													36	36					0	0	0	0	G	112993314	A	G	112993314	3	3	191	1	0	0	0	0	1	0	0	0	1486	295	11	5	1353	5	BOC	3	112993314	Missense_Mutation	SNP	A	TCGA-CR-6493-01A-11D-1870-08	70313034	112993314	85029116	12	33480											
DNAJB11	51726	broad.mit.edu	37	chr3	186295532	186295534	+	In_Frame_Del	DEL	TAT	TAT	-																															aatattccaagaggaagtgaTattattgtagatctagaagt																										TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr3:186295532_186295534delTAT	ENST00000439351.1	+	5	1328_1330	c.399_401delTAT	c.(397-402)gat>ga	p.DI133del	DNAJB11_ENST00000265028.3_In_Frame_Del_p.DI133del			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	133					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GAGGAAGTGATATTATTGTAGAT	0.369													20	64	---	---	---	---					-	186295534	TAT	-	186295532	7	5	191	1	0	1	0	1	0	0	0	0	4652	1403	49	0	413	0	DNAJB11	3	186295532	In_Frame_Del	DEL	TAT	TCGA-CR-6493-01A-11D-1870-08	73302218	186295532	11726898	13	33481											
PLK4	10733	broad.mit.edu	37	chr4	128812740	128812740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatcttttggcagatcactAtttattatccaaatggtggt	12	16	7	6	0	2	1	1	0	1	1	3	1	3	1	1	3	0	1	1	3	5	6	rs11552117		TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr4:128812740A>G	ENST00000270861.5	+	9	2216	c.1942A>G	c.(1942-1944)Att>Gtt	p.I648V	PLK4_ENST00000513090.1_Missense_Mutation_p.I616V|PLK4_ENST00000507249.1_Missense_Mutation_p.I587V|PLK4_ENST00000514379.1_Missense_Mutation_p.I607V|PLK4_ENST00000515069.1_Missense_Mutation_p.I570V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	648					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GCAGATCACTATTTATTATCC	0.338													53	97					0	0	0	0	G	128812740	A	G	128812740	3	3	191	1	0	0	0	0	1	0	0	0	12170	449	16	5	1976	5	PLK4	4	128812740	Missense_Mutation	SNP	A	TCGA-CR-6493-01A-11D-1870-08		128812740	62341536	14	33482											
AFF4	27125	broad.mit.edu	37	chr5	132269985	132269985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgtccgtccatgggccGcacataggcagtgggtttct	5	11	12	13	2	1	0	0	0	1	0	4	0	4	0	4	3	0	3	4	3	1	2			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr5:132269985G>A	ENST00000265343.5	-	3	1151	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.R258W	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	258	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.R258W(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCATGGGCCGCACATAGGCA	0.517													4	95					0	0	0	0	A	132269985	G	A	132269985	3	1	191	1	0	0	0	0	1	0	0	0	359	1086	38	1	2795	1	AFF4	5	132269985	Missense_Mutation	SNP	G	TCGA-CR-6493-01A-11D-1870-08		132269985	48645275	15	33483											
PCDHB8	56128	broad.mit.edu	37	chr5	140559714	140559714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgttggcctcggtgtcttCgctcttcctcttctcggtgc	0	15	12	14	4	4	0	0	0	4	0	8	0	5	0	2	4	1	2	2	4	0	4			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr5:140559714C>T	ENST00000239444.2	+	1	2344	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		700					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGTCTTCGCTCTTCCTC	0.672													134	38					0	0	0	0	T	140559714	C	T	140559714	3	4	191	1	0	0	0	0	1	0	0	0	11619	893	31	1	2101	1	PCDHB8	5	140559714	Missense_Mutation	SNP	C	TCGA-CR-6493-01A-11D-1870-08	8289729	140559714	40355546	16	33484											
NT5E	4907	broad.mit.edu	37	chr6	86197162	86197162	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatggctcctctcaatcatgCcgctttagagaatgcaacat	11	11	8	11	1	2	1	2	0	1	1	4	3	3	1	2	1	3	3	2	1	4	2			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr6:86197162C>T	ENST00000257770.3	+	5	1108	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NT5E_ENST00000369651.3_Silent_p.C353C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	353					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CTCAATCATGCCGCTTTAGAG	0.413													5	185					0	0	0	0	T	86197162	C	T	86197162	2	4	191	1	0	0	0	0	0	0	0	1	10764	747	26	4		4	NT5E	6	86197162	Silent	SNP	C	TCGA-CR-6493-01A-11D-1870-08		86197162	84917905	17	33485											
SP8	221833	broad.mit.edu	37	chr7	20825289	20825289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacgaggagcgtttccagggGtggaagcctttgccgaagga	9	7	17	8	3	0	0	0	0	0	0	1	6	1	3	3	5	3	1	3	5	2	2			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr7:20825289G>A	ENST00000361443.4	-	3	330	c.93C>T	c.(91-93)caC>caT	p.H31H	SP8_ENST00000418710.2_Silent_p.H49H	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	31	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GTTTCCAGGGGTGGAAGCCTT	0.617													21	42					0	0	0	0	A	20825289	G	A	20825289	2	1	191	1	0	0	0	0	0	0	0	1	15058	1252	44	4		4	SP8	7	20825289	Silent	SNP	G	TCGA-CR-6493-01A-11D-1870-08		20825289	138313374	18	33486											
ABCB4	5244	broad.mit.edu	37	chr7	87051469	87051469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtaaaaaaagaaataattcCcagaaataagaaaatcaaag	26	6	5	4	0	1	3	1	0	0	3	2	3	2	3	1	0	0	1	1	0	11	4			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr7:87051469C>T	ENST00000265723.4	-	18	2395	c.2284G>A	c.(2284-2286)Gga>Aga	p.G762R	ABCB4_ENST00000545634.1_Missense_Mutation_p.G762R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G762R|ABCB4_ENST00000359206.3_Missense_Mutation_p.G762R|ABCB4_ENST00000358400.3_Missense_Mutation_p.G762R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	762	ABC transmembrane type-1 2.		G -> E (in ICP).		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GAAATAATTCCCAGAAATAAG	0.318													3	15					0	0	0	0	T	87051469	C	T	87051469	3	4	191	1	0	0	0	0	1	0	0	0	43	632	22	4	1620	4	ABCB4	7	87051469	Missense_Mutation	SNP	C	TCGA-CR-6493-01A-11D-1870-08	66226180	87051469	72087194	19	33487											
ZNF282	8427	broad.mit.edu	37	chr7	148909533	148909533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatcagcaggatttggcaGacagagatattcccacggat	12	8	13	8	1	1	2	1	0	0	2	2	6	2	5	1	4	1	2	1	4	1	3			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr7:148909533G>A	ENST00000262085.3	+	6	1141	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	ZNF282_ENST00000479907.1_Missense_Mutation_p.D346N	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	346					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GGATTTGGCAGACAGAGATAT	0.453													3	31					0	0	0	0	A	148909533	G	A	148909533	3	1	191	1	0	0	0	0	1	0	0	0	17914	942	33	2	1058	2	ZNF282	7	148909533	Missense_Mutation	SNP	G	TCGA-CR-6493-01A-11D-1870-08	61858064	148909533	10229130	20	33488											
DPY19L4	286148	broad.mit.edu	37	chr8	95802031	95802031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatatgggcgattttgtcatGaggtcaaaattaactattct	13	15	8	5	1	3	1	2	1	1	0	3	2	3	1	0	2	1	0	0	2	6	6			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr8:95802031G>A	ENST00000414645.2	+	19	2164	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	689						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTTTGTCATGAGGTCAAAAT	0.303													98	188					0	0	0	0	A	95802031	G	A	95802031	3	1	191	1	0	0	0	0	1	0	0	0	4779	1291	45	2	2139	2	DPY19L4	8	95802031	Missense_Mutation	SNP	G	TCGA-CR-6493-01A-11D-1870-08		95802031	50561991	21	33489											
SECISBP2	79048	broad.mit.edu	37	chr9	91972404	91972404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtgtttgctctcaaccGcaaagctctggggcgcagtt	6	13	11	11	2	2	0	1	0	2	0	3	0	2	0	1	2	3	6	1	2	2	3			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr9:91972404G>A	ENST00000375807.3	+	15	2263	c.2192G>A	c.(2191-2193)cGc>cAc	p.R731H	SECISBP2_ENST00000339901.4_Missense_Mutation_p.R658H|SECISBP2_ENST00000534113.2_Missense_Mutation_p.R663H	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	731					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GCTCTCAACCGCAAAGCTCTG	0.507													6	205					0	0	0	0	A	91972404	G	A	91972404	3	1	191	1	0	0	0	0	1	0	0	0	14093	1087	38	1	2250	1	SECISBP2	9	91972404	Missense_Mutation	SNP	G	TCGA-CR-6493-01A-11D-1870-08		91972404	49241027	22	33490											
SUSD1	64420	broad.mit.edu	37	chr9	114886703	114886703	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgcatttctggagggttGccacagttgatctctgcaat	7	13	11	10	1	2	1	0	1	2	0	3	2	2	2	2	2	3	4	2	2	1	3			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr9:114886703G>A	ENST00000374270.3	-	6	892	c.720C>T	c.(718-720)ggC>ggT	p.G240G	SUSD1_ENST00000374264.2_Silent_p.G240G|SUSD1_ENST00000374263.3_Silent_p.G240G|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	240	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTGGAGGGTTGCCACAGTTGA	0.483													76	39					0	0	0	0	A	114886703	G	A	114886703	2	1	191	1	0	0	0	0	0	0	0	1	15497	1306	46	4		4	SUSD1	9	114886703	Silent	SNP	G	TCGA-CR-6493-01A-11D-1870-08	22914299	114886703	26326728	23	33491											
OR1N1	138883	broad.mit.edu	37	chr9	125288894	125288894	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccccaccacgggttcGgaccctcaggatagctggca	8	5	11	17	2	1	0	1	0	0	0	2	2	1	2	5	4	1	3	5	4	1	2			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr9:125288894G>A	ENST00000304880.2	-	1	678	c.679C>T	c.(679-681)Cga>Tga	p.R227*		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	227			R -> Q (in dbSNP:rs58226717).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R227*(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCACGGGTTCGGACCCTCAGG	0.542													44	31					0	0	0	0	A	125288894	G	A	125288894	4	1	191	1	0	0	0	0	0	1	0	0	11040	1124	39	1	260	1	OR1N1	9	125288894	Nonsense_Mutation	SNP	G	TCGA-CR-6493-01A-11D-1870-08	10402191	125288894	15924537	24	33492											
SNAPC4	6621	broad.mit.edu	37	chr9	139273678	139273678	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgctccacccggctggaCgccagtcttcggctcccttt	3	10	11	17	4	1	0	0	0	1	0	4	1	3	1	4	3	1	3	4	3	0	2			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr9:139273678C>A	ENST00000298532.2	-	21	2969	c.2601G>T	c.(2599-2601)gcG>gcT	p.A867A		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	867					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCCGGCTGGACGCCAGTCTTC	0.642													6	30					8.12818e-05	8.52793e-05	1	0	A	139273678	C	A	139273678	2	1	191	1	0	0	0	0	0	0	0	1	14925	523	19	3		3	SNAPC4	9	139273678	Silent	SNP	C	TCGA-CR-6493-01A-11D-1870-08	13984784	139273678	1939753	25	33493											
CUBN	8029	broad.mit.edu	37	chr10	16942822	16942822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaagcacaagttgtatgggGttcaatatcaaagtcactaa	15	10	8	8	0	3	0	3	0	0	0	3	0	3	0	1	2	1	4	1	2	7	5			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr10:16942822G>A	ENST00000377833.4	-	53	8277	c.8212C>T	c.(8212-8214)Ccc>Tcc	p.P2738S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2738	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTGTATGGGGTTCAATATCA	0.433													3	29					0	0	0	0	A	16942822	G	A	16942822	3	1	191	1	0	0	0	0	1	0	0	0	4083	1261	44	4	2719	4	CUBN	10	16942822	Missense_Mutation	SNP	G	TCGA-CR-6493-01A-11D-1870-08		16942822	118591925	26	33494											
POLR2L	5441	broad.mit.edu	37	chr11	840466	840466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtagcgcttcaggcccaggGcatccagcgcatccctgtgt	7	8	12	14	2	1	0	1	0	0	0	3	0	3	0	3	2	2	4	3	2	1	2			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr11:840466G>T	ENST00000322028.4	-	2	146	c.110C>A	c.(109-111)gCc>gAc	p.A37D		NM_021128.4	NP_066951.1	P62875	RPAB5_HUMAN	polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa	37					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			lung(1)	1		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGCCCAGGGCATCCAGCGC	0.622													41	75					7.53189e-24	8.60788e-24	1	0	T	840466	G	T	840466	3	4	191	1	0	0	0	0	1	0	0	0	12299	1203	42	4	97	4	POLR2L	11	840466	Missense_Mutation	SNP	G	TCGA-CR-6493-01A-11D-1870-08		840466	134166050	27	33495											
MMP12	4321	broad.mit.edu	37	chr11	102745470	102745473	+	RNA	DEL	CAAA	CAAA	-																															tttcagctgatacgtaaaagCaaacaaacaaacaaacaaac																								rs28360358		TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr11:102745470_102745473delCAAA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TACGTAAaagcaaacaaacaaaca	0.324													12	2	---	---	---	---					-	102745473	CAAA	-	102745470	6	5	191	0	1	1	0	1	0	0	0	0	9720	725	25	0		0	MMP12	11	102745470	RNA	DEL	CAAA	TCGA-CR-6493-01A-11D-1870-08	101905004	102745470	32261046	28	33496											
FAM90A1	55138	broad.mit.edu	37	chr12	8375146	8375146	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcggcttcaccacgaggaGaggctcggggccctggtgcc	5	7	16	13	3	1	1	1	0	0	1	3	3	1	1	3	6	1	2	3	6	0	1			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr12:8375146G>C	ENST00000538603.1	-	7	1225	c.667C>G	c.(667-669)Ctc>Gtc	p.L223V	FAM90A1_ENST00000307435.6_Missense_Mutation_p.L223V	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	223							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ACCACGAGGAGAGGCTCGGGG	0.647													33	57					0	0	0	0	C	8375146	G	C	8375146	3	2	191	1	0	0	0	0	1	0	0	0	5695	942	33	2	731	2	FAM90A1	12	8375146	Missense_Mutation	SNP	G	TCGA-CR-6493-01A-11D-1870-08		8375146	125476749	29	33497											
PIP4K2C	79837	broad.mit.edu	37	chr12	57988994	57988994	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgatttggcattgatgacCaagattacttggtgagagtc	11	13	11	6	1	0	4	0	3	0	2	2	6	0	4	1	2	1	1	1	2	2	4			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr12:57988994C>T	ENST00000354947.5	+	3	374	c.358C>T	c.(358-360)Caa>Taa	p.Q120*	PIP4K2C_ENST00000550465.1_Nonsense_Mutation_p.Q102*|PIP4K2C_ENST00000422156.3_Nonsense_Mutation_p.Q120*|PIP4K2C_ENST00000540759.2_Nonsense_Mutation_p.Q120*			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	120	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CATTGATGACCAAGATTACTT	0.463													131	146					0	0	0	0	T	57988994	C	T	57988994	4	4	191	1	0	0	0	0	0	1	0	0	12010	595	21	4	368	4	PIP4K2C	12	57988994	Nonsense_Mutation	SNP	C	TCGA-CR-6493-01A-11D-1870-08	49613848	57988994	75862901	30	33498											
SACS	26278	broad.mit.edu	37	chr13	23906082	23906082	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcatctaattgttcttcaAgtatactgctcaataatcga	12	16	4	9	1	5	0	3	0	2	0	6	1	5	0	0	0	2	3	0	0	6	8			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr13:23906082A>C	ENST00000382298.3	-	10	12521	c.11933T>G	c.(11932-11934)cTt>cGt	p.L3978R	SACS_ENST00000402364.1_Missense_Mutation_p.L3228R|SACS_ENST00000382292.3_Missense_Mutation_p.L3978R	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3978					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTGTTCTTCAAGTATACTGCT	0.398													23	79					0	0	0	0	C	23906082	A	C	23906082	3	2	191	1	0	0	0	0	1	0	0	0	13889	72	3	5	1810	5	SACS	13	23906082	Missense_Mutation	SNP	A	TCGA-CR-6493-01A-11D-1870-08		23906082	91263796	31	33499											
ACOT1	641371	broad.mit.edu	37	chr14	74004392	74004392	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttggagcccgagaaaccCttggtgcggctggtgaagcg	7	7	16	11	3	0	2	0	1	0	1	0	4	0	3	3	4	4	1	3	4	2	2			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr14:74004392C>T	ENST00000311148.4	+	1	575	c.267C>T	c.(265-267)ccC>ccT	p.P89P	HEATR4_ENST00000553558.1_Intron|ACOT1_ENST00000557556.1_Silent_p.P89P|HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron	NM_001037161.1	NP_001032238.1			acyl-CoA thioesterase 1											endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CCGAGAAACCCTTGGTGCGGC	0.736													4	16					0	0	0	0	T	74004392	C	T	74004392	2	4	191	1	0	0	0	0	0	0	0	1	148	668	24	4		4	ACOT1	14	74004392	Silent	SNP	C	TCGA-CR-6493-01A-11D-1870-08		74004392	33345148	32	33500											
CDAN1	146059	broad.mit.edu	37	chr15	43023151	43023151	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggccagaatggagtccTgaagctcaccggtcggggga	9	6	17	9	2	1	3	1	2	0	1	3	5	2	5	3	5	1	1	3	5	2	0			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr15:43023151T>C	ENST00000356231.3	-	13	2002	c.1979A>G	c.(1978-1980)cAg>cGg	p.Q660R		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	660						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AATGGAGTCCTGAAGCTCACC	0.607													4	132					0	0	0	0	C	43023151	T	C	43023151	3	2	191	1	0	0	0	0	1	0	0	0	3083	1580	55	5	1768	5	CDAN1	15	43023151	Missense_Mutation	SNP	T	TCGA-CR-6493-01A-11D-1870-08		43023151	59508241	33	33501											
ISL2	64843	broad.mit.edu	37	chr15	76633517	76633517	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgcccctggtggcgggcagtCccatccgccatgagaacgcc	6	5	13	17	4	0	1	0	1	0	1	2	2	2	1	6	3	1	1	6	3	1	0			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr15:76633517C>G	ENST00000290759.4	+	5	998	c.838C>G	c.(838-840)Ccc>Gcc	p.P280A	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	280						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GGCGGGCAGTCCCATCCGCCA	0.657													15	29					0	0	0	0	G	76633517	C	G	76633517	3	3	191	1	0	0	0	0	1	0	0	0	7910	855	30	2	856	2	ISL2	15	76633517	Missense_Mutation	SNP	C	TCGA-CR-6493-01A-11D-1870-08	33610366	76633517	25897875	34	33502											
CYLD	1540	broad.mit.edu	37	chr16	50816274	50816274	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaagtagtagaagaaaatActccaccaaaaatggaaaaa	22	6	8	5	0	0	3	0	1	0	2	1	4	1	4	2	1	1	2	2	1	11	3			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr16:50816274A>T	ENST00000540145.1	+	11	2138	c.1723A>T	c.(1723-1725)Act>Tct	p.T575S	CYLD_ENST00000568704.2_Missense_Mutation_p.T390S|CYLD_ENST00000566206.1_Missense_Mutation_p.T572S|CYLD_ENST00000569418.1_Missense_Mutation_p.T572S|CYLD_ENST00000564326.1_Missense_Mutation_p.T572S|CYLD_ENST00000427738.3_Missense_Mutation_p.T575S|CYLD_ENST00000398568.2_Missense_Mutation_p.T572S|CYLD_ENST00000311559.9_Missense_Mutation_p.T575S			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	575	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGAAGAAAATACTCCACCAAA	0.303			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				12	21					0	0	0	0	T	50816274	A	T	50816274	3	4	191	1	0	0	0	0	1	0	0	0	4175	391	14	5	1757	5	CYLD	16	50816274	Missense_Mutation	SNP	A	TCGA-CR-6493-01A-11D-1870-08		50816274	39538479	35	33503											
RLTPR	146206	broad.mit.edu	37	chr16	67680147	67680148	+	In_Frame_Ins	INS	-	-	CCTGGA																															gagtttcctggtgtggccgcINScctggaacagctggcccagc																										TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr16:67680147_67680148insCCTGGA	ENST00000334583.6	+	5	636_637	c.308_309insCCTGGA	c.(307-309)gct>gCCTGGAct	p.103_104insWT	RLTPR_ENST00000545661.1_In_Frame_Ins_p.103_104insWT	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	103										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGTGTGGCCGCCCTGGAACAGC	0.639													15	61	---	---	---	---					CCTGGA	67680148	-	CCTGGA	67680147	7	5	191	1	0	1	1	0	0	0	0	0	13479	739	26	0	326	0	RLTPR	16	67680147	In_Frame_Ins	INS	-	TCGA-CR-6493-01A-11D-1870-08	16863873	67680147	22674606	36	33504											
TP53	7157	broad.mit.edu	37	chr17	7577594	7577595	+	Frame_Shift_Del	DEL	AC	AC	-																															tagttgtagtggatggtggtAcagtcagagccaacctagga																										TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr17:7577594_7577595delAC	ENST00000420246.2	-	7	818_819	c.686_687delGT	c.(685-687)tfs	p.C229fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Del_p.C229fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	229	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C229fs*10(14)|p.0?(8)|p.?(5)|p.C229fs*1(4)|p.C229*(3)|p.C229F(3)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.C136fs*1(1)|p.C229S(1)|p.C136F(1)|p.T230fs*9(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGATGGTGGTACAGTCAGAGCC	0.53		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	71	---	---	---	---					-	7577595	AC	-	7577594	7	5	191	1	0	1	0	1	0	0	0	0	16476	389	14	0	603	0	TP53	17	7577594	Frame_Shift_Del	DEL	AC	TCGA-CR-6493-01A-11D-1870-08		7577594	73617616	37	33505											
TP53	7157	broad.mit.edu	37	chr17	7578550	7578550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatcttgttgagggcagggGagtactgtaggaagaggaag	12	8	17	4	0	1	2	0	1	1	1	1	5	1	5	0	5	1	4	0	5	4	4			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr17:7578550G>T	ENST00000420246.2	-	5	512	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	TP53_ENST00000359597.4_Missense_Mutation_p.S127Y|TP53_ENST00000413465.2_Missense_Mutation_p.S127Y|TP53_ENST00000455263.2_Missense_Mutation_p.S127Y|TP53_ENST00000269305.4_Missense_Mutation_p.S127Y|TP53_ENST00000445888.2_Missense_Mutation_p.S127Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGGCAGGGGAGTACTGTAG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	29					1.01871e-10	1.10504e-10	1	0	T	7578550	G	T	7578550	3	4	191	1	0	0	0	0	1	0	0	0	16476	1174	41	2	918	2	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-CR-6493-01A-11D-1870-08	956	7578550	73616660	38	33506											
ARMC6	93436	broad.mit.edu	37	chr19	19162842	19162842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgactggtgccatcaccCatcatggccaccacactgac	9	8	8	16	0	2	2	2	2	0	0	2	2	2	2	4	2	2	1	4	2	0	0			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr19:19162842C>T	ENST00000535612.1	+	5	1123	c.691C>T	c.(691-693)Cat>Tat	p.H231Y	ARMC6_ENST00000269932.6_Missense_Mutation_p.H206Y|ARMC6_ENST00000392335.2_Missense_Mutation_p.H206Y|ARMC6_ENST00000392336.3_Missense_Mutation_p.H231Y|ARMC6_ENST00000546344.1_Missense_Mutation_p.H138Y	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	231							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TGCCATCACCCATCATGGCCA	0.592													7	44					0	0	0	0	T	19162842	C	T	19162842	3	4	191	1	0	0	0	0	1	0	0	0	959	594	21	4	626	4	ARMC6	19	19162842	Missense_Mutation	SNP	C	TCGA-CR-6493-01A-11D-1870-08		19162842	39966141	39	33507											
RYR1	6261	broad.mit.edu	37	chr19	38991629	38991629	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccgcctcgctggacaCggtgagcaaccctgcccagc	7	4	13	17	3	0	1	0	1	0	0	1	2	0	2	4	3	5	3	4	3	1	0			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr19:38991629C>T	ENST00000355481.4	+	47	7744	c.7614_splice	c.e47+1	p.T2538_splice	RYR1_ENST00000360985.3_Splice_Site_p.T2538_splice|RYR1_ENST00000359596.3_Splice_Site_p.T2538_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2538	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCGCTGGACACGGTGAGCAAC	0.612													8	14					0	0	0	0	T	38991629	C	T	38991629	5	4	191	1	0	0	0	0	0	0	1	0	13853	550	19	1	7799	1	RYR1	19	38991629	Splice_Site	SNP	C	TCGA-CR-6493-01A-11D-1870-08	19828787	38991629	20137354	40	33508											
PREX1	57580	broad.mit.edu	37	chr20	47244457	47244457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagcaacccgtggctcCgtgccaagatggccgcctgc	6	6	14	15	3	0	1	0	0	0	1	1	1	1	1	5	3	4	3	5	3	2	0			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr20:47244457C>T	ENST00000371941.3	-	38	4833	c.4811G>A	c.(4810-4812)cGg>cAg	p.R1604Q	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1604					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCCGTGGCTCCGTGCCAAGAT	0.692													11	30					0	0	0	0	T	47244457	C	T	47244457	3	4	191	1	0	0	0	0	1	0	0	0	12556	652	23	1	180	1	PREX1	20	47244457	Missense_Mutation	SNP	C	TCGA-CR-6493-01A-11D-1870-08		47244457	15781063	41	33509											
FAM104B	90736	broad.mit.edu	37	chrX	55172659	55172659	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcatcgggttcagtaacaAtctggtttaagttgccttct	8	16	9	8	1	3	0	1	0	2	0	4	0	3	0	1	2	3	5	1	2	3	7	rs5018687	by1000genomes	TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chrX:55172659A>G	ENST00000425133.2	-	3	247	c.209T>C	c.(208-210)aTt>aCt	p.I70T	FAM104B_ENST00000358460.4_Missense_Mutation_p.I69T|FAM104B_ENST00000477847.2_Missense_Mutation_p.I66T|FAM104B_ENST00000332132.4_Missense_Mutation_p.I70T|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.I68T	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	69								p.I70T(2)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TTCAGTAACAATCTGGTTTAA	0.458													3	81					0	0	0	0	G	55172659	A	G	55172659	3	3	191	1	0	0	0	0	1	0	0	0	5427	101	4	5	246	5	FAM104B	23	55172659	Missense_Mutation	SNP	A	TCGA-CR-6493-01A-11D-1870-08		55172659	100097901	42	33510											
SPATA21	374955	broad.mit.edu	37	chr1	16736455	16736455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccggaagttcccgaggctCtgtgtccctgcagccaccgc	5	8	12	16	3	1	0	0	0	1	0	3	2	3	1	5	2	3	3	5	2	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:16736455C>G	ENST00000335496.1	-	6	710	c.228G>C	c.(226-228)caG>caC	p.Q76H	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.Q53H	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	76							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCCCGAGGCTCTGTGTCCCTG	0.657													24	63					0	0	0	0	G	16736455	C	G	16736455	3	3	192	1	0	0	0	0	1	0	0	0	15097	912	32	2	1213	2	SPATA21	1	16736455	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08		16736455	232514166	1	33511											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809211	18809211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccgctgaaccaggcccGgccgcactgccggctggtgg	4	5	16	16	4	0	1	0	1	0	0	0	1	0	1	5	5	3	3	5	5	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:18809211G>T	ENST00000400664.1	+	1	1788	c.1736G>T	c.(1735-1737)cGg>cTg	p.R579L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	579						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AACCAGGCCCGGCCGCACTGC	0.711													9	21					7.48243e-07	9.08478e-07	1	0	T	18809211	G	T	18809211	3	4	192	1	0	0	0	0	1	0	0	0	8412	1116	39	3	1738	3	KLHDC7A	1	18809211	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2072756	18809211	230441410	2	33512											
AIM1L	55057	broad.mit.edu	37	chr1	26648778	26648778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccttggagcctgggctagGgggtccaatcacctgtaggc	7	8	14	12	0	1	0	1	0	0	0	2	1	2	1	4	5	1	2	4	5	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:26648778G>A	ENST00000527815.1	-	18	2201	c.2152C>T	c.(2152-2154)Cct>Tct	p.P718S	AIM1L_ENST00000308182.5_Missense_Mutation_p.P547S	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	547							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCTGGGCTAGGGGGTCCAATC	0.617													24	65					0	0	0	0	A	26648778	G	A	26648778	3	1	192	1	0	0	0	0	1	0	0	0	431	1232	43	4	219	4	AIM1L	1	26648778	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	7839567	26648778	222601843	3	33513											
PTPRU	10076	broad.mit.edu	37	chr1	29611279	29611279	+	Frame_Shift_Del	DEL	C	C	-																															caagcggcccctggaggtgtCccagagatcggaggagatgg																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:29611279delC	ENST00000373779.3	+	14	2345	c.2216delC	c.(2215-2217)tcfs	p.S739fs	PTPRU_ENST00000460170.2_Frame_Shift_Del_p.S739fs|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Frame_Shift_Del_p.S739fs|PTPRU_ENST00000356870.3_Frame_Shift_Del_p.S739fs|PTPRU_ENST00000323874.8_Frame_Shift_Del_p.S739fs|PTPRU_ENST00000345512.3_Frame_Shift_Del_p.S739fs	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	739					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGGAGGTGTCCCAGAGATCG	0.577													26	86	---	---	---	---					-	29611279	C	-	29611279	7	5	192	1	0	1	0	1	0	0	0	0	12895	855	30	0	2270	0	PTPRU	1	29611279	Frame_Shift_Del	DEL	C	TCGA-CR-7364-01A-11D-2012-08	2962501	29611279	219639342	4	33514											
KIAA1522	57648	broad.mit.edu	37	chr1	33237601	33237601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgactcaaggcctgcagcCtggccgccagtgaaggcctc	7	6	12	16	2	1	1	1	1	0	0	3	2	2	1	6	3	2	1	6	3	2	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:33237601C>G	ENST00000401073.2	+	6	2891	c.2821C>G	c.(2821-2823)Ctg>Gtg	p.L941V	KIAA1522_ENST00000373480.1_Missense_Mutation_p.L882V|KIAA1522_ENST00000373481.3_Missense_Mutation_p.L893V|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	882	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGCCTGCAGCCTGGCCGCCAG	0.682													4	36					0	0	0	0	G	33237601	C	G	33237601	3	3	192	1	0	0	0	0	1	0	0	0	8289	680	24	4	2843	4	KIAA1522	1	33237601	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	3626322	33237601	216013020	5	33515											
C1orf94	84970	broad.mit.edu	37	chr1	34666433	34666433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcctctttctcagccagtGgccccagagccagaaggacg	9	6	12	14	1	2	2	1	0	2	2	3	4	2	3	5	2	3	0	5	2	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:34666433G>T	ENST00000488417.1	+	3	1190	c.1070G>T	c.(1069-1071)tGg>tTg	p.W357L	C1orf94_ENST00000373374.3_Missense_Mutation_p.W167L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	167							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CTCAGCCAGTGGCCCCAGAGC	0.587													38	65					3.09479e-21	4.69019e-21	1	0	T	34666433	G	T	34666433	3	4	192	1	0	0	0	0	1	0	0	0	2091	1357	47	4	1080	4	C1orf94	1	34666433	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1428832	34666433	214584188	6	33516											
PTCH2	8643	broad.mit.edu	37	chr1	45294273	45294273	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgagtacgacactggtgcCcgtgcgctgcagacactcgc	7	8	13	13	4	0	2	0	1	0	1	1	3	0	2	1	1	4	3	1	1	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:45294273C>G	ENST00000447098.2	-	12	1506	c.1495G>C	c.(1495-1497)Ggc>Cgc	p.G499R	PTCH2_ENST00000372192.3_Missense_Mutation_p.G499R	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	499	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					ACACTGGTGCCCGTGCGCTGC	0.632									Basal Cell Nevus syndrome				5	14					0	0	0	0	G	45294273	C	G	45294273	3	3	192	1	0	0	0	0	1	0	0	0	12810	623	22	4	2180	4	PTCH2	1	45294273	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	10627840	45294273	203956348	7	33517											
RAD54L	8438	broad.mit.edu	37	chr1	46726971	46726971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggagccagggtgtcttctCccatcctcatcatttcctat	6	14	8	13	0	4	0	2	0	2	0	7	1	6	1	4	2	1	0	4	2	1	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:46726971C>A	ENST00000371975.4	+	8	1479	c.805C>A	c.(805-807)Ccc>Acc	p.P269T	RAD54L_ENST00000442598.1_Missense_Mutation_p.P269T	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	269	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGTGTCTTCTCCCATCCTCAT	0.423								Direct reversal of damage;Homologous recombination					20	44					0.00152264	0.0016933	1	0	A	46726971	C	A	46726971	3	1	192	1	0	0	0	0	1	0	0	0	13075	855	30	2	835	2	RAD54L	1	46726971	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1432698	46726971	202523650	8	33518											
USP24	23358	broad.mit.edu	37	chr1	55545229	55545229	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctctaacaggtaaggtttCccttcagacatgaacaacaa	15	9	6	11	0	2	2	1	1	1	1	3	2	3	2	2	2	3	2	2	2	5	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:55545229C>A	ENST00000294383.6	-	60	7181	c.7182G>T	c.(7180-7182)ggG>ggT	p.G2394G	USP24_ENST00000407756.1_Silent_p.G2234G	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2394					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GGTAAGGTTTCCCTTCAGACA	0.433													31	113					7.11191e-15	1.00357e-14	1	0	A	55545229	C	A	55545229	2	1	192	1	0	0	0	0	0	0	0	1	17151	842	30	2		2	USP24	1	55545229	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	8818258	55545229	193705392	9	33519											
C8B	732	broad.mit.edu	37	chr1	57420405	57420405	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtattggtccatttcatgctGacattttttataaatccttc	9	19	5	8	0	1	1	1	1	0	0	4	1	3	1	2	1	1	2	2	1	4	8			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:57420405G>A	ENST00000543257.1	-	5	897	c.331C>T	c.(331-333)Cag>Tag	p.Q111*	C8B_ENST00000535057.1_Nonsense_Mutation_p.Q101*|C8B_ENST00000371237.4_Nonsense_Mutation_p.Q163*	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	163	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATTTCATGCTGACATTTTTTA	0.443													25	72					0	0	0	0	A	57420405	G	A	57420405	4	1	192	1	0	0	0	0	0	1	0	0	2440	1299	45	2	1324	2	C8B	1	57420405	Nonsense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1875176	57420405	191830216	10	33520											
RAVER2	55225	broad.mit.edu	37	chr1	65278490	65278490	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcggctcagtaaaaatccaTacttgaatttggcaagtgtg	12	13	9	7	1	1	1	1	1	0	0	3	1	2	1	1	2	1	3	1	2	6	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:65278490T>C	ENST00000294428.3	+	10	1828	c.1750T>C	c.(1750-1752)Tac>Cac	p.Y584H	RAVER2_ENST00000430964.2_Missense_Mutation_p.Y123H|RAVER2_ENST00000371072.4_Missense_Mutation_p.Y571H			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	584						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TAAAAATCCATACTTGAATTT	0.383													8	33					0	0	0	0	C	65278490	T	C	65278490	3	2	192	1	0	0	0	0	1	0	0	0	13177	1406	49	5	1749	5	RAVER2	1	65278490	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	7858085	65278490	183972131	11	33521											
WLS	79971	broad.mit.edu	37	chr1	68613868	68613868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatactgtagaagggattcGtgagttgtacccctctacaa	12	11	10	8	1	1	3	0	1	1	2	2	4	1	4	2	1	3	3	2	1	6	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:68613868G>A	ENST00000262348.4	-	8	1338	c.1085C>T	c.(1084-1086)aCg>aTg	p.T362M	WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.T271M|WLS_ENST00000354777.2_Missense_Mutation_p.T360M|WLS_ENST00000540432.1_Missense_Mutation_p.T362M	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	362					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GAAGGGATTCGTGAGTTGTAC	0.443													21	75					0	0	0	0	A	68613868	G	A	68613868	3	1	192	1	0	0	0	0	1	0	0	0	17472	1145	40	1	686	1	WLS	1	68613868	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	3335378	68613868	180636753	12	33522											
C1orf173	127254	broad.mit.edu	37	chr1	75072489	75072489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctctctttcctcactttccCctcagccttcttcagttcct	3	18	2	18	0	6	0	3	0	3	0	10	0	9	0	5	0	1	1	5	0	0	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:75072489C>A	ENST00000326665.5	-	10	1503	c.1285G>T	c.(1285-1287)Ggg>Tgg	p.G429W	C1orf173_ENST00000420661.2_Missense_Mutation_p.G232W|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	429	Glu-rich.									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						CTCACTTTCCCCTCAGCCTTC	0.403													44	107					2.24893e-16	3.25301e-16	1	0	A	75072489	C	A	75072489	3	1	192	1	0	0	0	0	1	0	0	0	2033	623	22	4	3327	4	C1orf173	1	75072489	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	6458621	75072489	174178132	13	33523											
MSH4	4438	broad.mit.edu	37	chr1	76343943	76343943	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatgcagtgaggtctaacAtaaatgaatttcttgacata	14	13	8	6	0	2	3	0	3	2	0	2	3	2	3	0	1	2	2	0	1	6	6	rs116549128	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:76343943A>G	ENST00000263187.3	+	11	1584	c.1480A>G	c.(1480-1482)Ata>Gta	p.I494V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	494					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GAGGTCTAACATAAATGAATT	0.318								Mismatch excision repair (MMR)					11	24					0	0	0	0	G	76343943	A	G	76343943	3	3	192	1	0	0	0	0	1	0	0	0	9942	217	8	5	1522	5	MSH4	1	76343943	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	1271454	76343943	172906678	14	33524											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76877998	76877998	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatcgtttacaacatgttGaaaaagacagttggtatcta	14	12	9	6	1	1	2	0	1	1	1	2	2	1	2	0	2	2	5	0	2	6	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:76877998G>A	ENST00000328299.3	+	3	667	c.519G>A	c.(517-519)ttG>ttA	p.L173L	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	173					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACAACATGTTGAAAAAGACAG	0.393													19	68					0	0	0	0	A	76877998	G	A	76877998	2	1	192	1	0	0	0	0	0	0	0	1	15315	1281	45	2		2	ST6GALNAC3	1	76877998	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	534055	76877998	172372623	15	33525											
AK5	26289	broad.mit.edu	37	chr1	77763626	77763626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggctctatcttttgaGgaccaagtaagaatatctcc	11	11	8	11	0	3	2	0	1	3	1	4	3	3	3	3	2	0	2	3	2	5	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:77763626G>A	ENST00000344720.5	+	5	1641	c.615G>A	c.(613-615)gaG>gaA	p.E205E	AK5_ENST00000354567.2_Silent_p.E231E|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	231					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TATCTTTTGAGGACCAAGTAA	0.333													7	28					0	0	0	0	A	77763626	G	A	77763626	2	1	192	1	0	0	0	0	0	0	0	1	443	991	35	4		4	AK5	1	77763626	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	885628	77763626	171486995	16	33526											
HFM1	164045	broad.mit.edu	37	chr1	91846506	91846506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtatatagttgaaatatGgaaattctttgaaaatactt	16	16	6	3	0	1	2	0	2	1	0	1	3	1	3	0	1	1	2	0	1	9	9			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:91846506G>T	ENST00000370425.3	-	7	934	c.836C>A	c.(835-837)cCa>cAa	p.P279Q	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	279							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTGAAATATGGAAATTCTTT	0.249													7	41					2.17888e-05	2.54336e-05	1	0	T	91846506	G	T	91846506	3	4	192	1	0	0	0	0	1	0	0	0	7133	1348	47	4	3603	4	HFM1	1	91846506	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	14082880	91846506	157404115	17	33527											
STXBP3	6814	broad.mit.edu	37	chr1	109315300	109315300	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttaggtgtatactcttgAtgtaccagatgcattctatt	11	16	7	7	0	2	2	0	1	2	1	2	2	2	2	1	1	4	3	1	1	6	8			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:109315300A>G	ENST00000370008.3	+	7	502	c.452A>G	c.(451-453)gAt>gGt	p.D151G	STXBP3_ENST00000485167.1_3'UTR	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	151	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TATACTCTTGATGTACCAGAT	0.313													11	25					0	0	0	0	G	109315300	A	G	109315300	3	3	192	1	0	0	0	0	1	0	0	0	15444	333	12	5	478	5	STXBP3	1	109315300	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	17468794	109315300	139935321	18	33528											
KCNA10	3744	broad.mit.edu	37	chr1	111060380	111060380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggaagaccctcaccaggcGgatgatcctcaggatggcca	10	5	13	13	2	2	2	2	1	0	1	3	5	3	5	4	5	0	0	4	5	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:111060380G>A	ENST00000369771.2	-	1	1417	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	344						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.R344C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTCACCAGGCGGATGATCCTC	0.577													45	120					0	0	0	0	A	111060380	G	A	111060380	3	1	192	1	0	0	0	0	1	0	0	0	8055	1116	39	1	509	1	KCNA10	1	111060380	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1745080	111060380	138190241	19	33529											
KCNA3	3738	broad.mit.edu	37	chr1	111216792	111216792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctggcgctggaagtcgcGgcggggcaagggccgctcct	5	5	17	14	5	0	0	0	0	0	0	2	1	1	1	3	6	0	3	3	6	2	0	rs145190352	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:111216792G>A	ENST00000369769.2	-	1	863	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	214						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAAGTCGCGGCGGGGCAAG	0.687													31	71					0	0	0	0	A	111216792	G	A	111216792	3	1	192	1	0	0	0	0	1	0	0	0	8057	1116	39	1	1091	1	KCNA3	1	111216792	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	156412	111216792	138033829	20	33530											
PTPN22	26191	broad.mit.edu	37	chr1	114397155	114397155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccagtccttccacagcCagcactgaaatgaaagatca	16	6	6	13	0	1	3	1	2	0	1	3	3	3	3	4	0	3	1	4	0	3	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:114397155C>T	ENST00000359785.5	-	9	823	c.688G>A	c.(688-690)Ggc>Agc	p.G230S	PTPN22_ENST00000538253.1_5'UTR|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.G230S|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.G230S	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	230	Substrate binding.|Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCCACAGCCAGCACTGAAA	0.418													6	29					0	0	0	0	T	114397155	C	T	114397155	3	4	192	1	0	0	0	0	1	0	0	0	12869	594	21	4	1810	4	PTPN22	1	114397155	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	3180363	114397155	134853466	21	33531											
PTGFRN	5738	broad.mit.edu	37	chr1	117487467	117487467	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcggcccggccaggcggagCgtcctcgccctgacccacga	5	3	14	19	7	0	1	0	1	0	0	2	3	1	2	5	4	1	0	5	4	0	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:117487467C>T	ENST00000393203.2	+	3	732	c.585C>T	c.(583-585)agC>agT	p.S195S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	195	Ig-like C2-type 2.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CCAGGCGGAGCGTCCTCGCCC	0.751													4	11					0	0	0	0	T	117487467	C	T	117487467	2	4	192	1	0	0	0	0	0	0	0	1	12830	767	27	1		1	PTGFRN	1	117487467	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	3090312	117487467	131763154	22	33532											
CD101	9398	broad.mit.edu	37	chr1	117560848	117560848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaacacctttgacctgtcCtgtgtcgtgagggccggtta	7	11	11	12	2	0	2	0	2	0	0	2	2	1	2	5	2	1	1	5	2	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:117560848C>T	ENST00000256652.4	+	6	1741	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	CD101_ENST00000369470.1_Silent_p.S561S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	561	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGACCTGTCCTGTGTCGTGA	0.478													6	37					0	0	0	0	T	117560848	C	T	117560848	2	4	192	1	0	0	0	0	0	0	0	1	2991	668	24	4		4	CD101	1	117560848	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	73381	117560848	131689773	23	33533											
FAM46C	54855	broad.mit.edu	37	chr1	118165682	118165682	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggctggaggaggcaggcatCaaagtgcacgacgtccggct	9	5	16	11	4	1	0	1	0	0	0	2	3	2	2	1	6	1	5	1	6	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:118165682C>T	ENST00000369448.3	+	2	439	c.192C>T	c.(190-192)atC>atT	p.I64I		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	64										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AGGCAGGCATCAAAGTGCACG	0.552			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			30	80					0	0	0	0	T	118165682	C	T	118165682	2	4	192	1	0	0	0	0	0	0	0	1	5614	816	29	2		2	FAM46C	1	118165682	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	604834	118165682	131084939	24	33534											
SPAG17	200162	broad.mit.edu	37	chr1	118624066	118624066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttggcctcttgagtattCattttcatgacatattgctg	7	18	8	8	0	3	2	2	2	1	0	3	2	3	2	1	1	2	3	1	1	2	8			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:118624066C>G	ENST00000336338.5	-	14	2027	c.1962G>C	c.(1960-1962)atG>atC	p.M654I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	654						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTGAGTATTCATTTTCATGA	0.408													20	75					0	0	0	0	G	118624066	C	G	118624066	3	3	192	1	0	0	0	0	1	0	0	0	15069	826	29	2	4849	2	SPAG17	1	118624066	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	458384	118624066	130626555	25	33535											
NOTCH2	4853	broad.mit.edu	37	chr1	120529625	120529625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgtaagtgttgacccCatccacacaaacccctccat	11	9	6	15	0	0	1	0	1	0	0	2	1	2	1	6	0	1	4	6	0	2	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:120529625C>A	ENST00000256646.2	-	5	1051	c.832G>T	c.(832-834)Ggg>Tgg	p.G278W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	278	EGF-like 7; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		GTGTTGACCCCATCCACACAA	0.483			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				4	92					0.00909568	0.00994106	1	0	A	120529625	C	A	120529625	3	1	192	1	0	0	0	0	1	0	0	0	10618	594	21	4	6703	4	NOTCH2	1	120529625	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1905559	120529625	128720996	26	33536											
ACP6	51205	broad.mit.edu	37	chr1	147119326	147119326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catggcattcaagaacatgtCcagcgggcagagcccatcag	12	6	11	12	1	2	2	2	0	0	2	3	2	3	2	2	2	3	2	2	2	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:147119326C>G	ENST00000369238.5	-	10	1633	c.1186G>C	c.(1186-1188)Gac>Cac	p.D396H	ACP6_ENST00000460583.1_5'UTR	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	396					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AAGAACATGTCCAGCGGGCAG	0.502													22	46					0	0	0	0	G	147119326	C	G	147119326	3	3	192	1	0	0	0	0	1	0	0	0	165	855	30	2	104	2	ACP6	1	147119326	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	26589701	147119326	102131295	27	33537											
TTC24	164118	broad.mit.edu	37	chr1	156554971	156554971	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagggccaccagaagaaaaaAgaggagaggtcggcaaacgt	17	2	15	7	2	0	4	0	0	0	4	1	6	0	4	2	4	1	1	2	4	5	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:156554971A>G	ENST00000368236.3	+	8	1440	c.1404A>G	c.(1402-1404)aaA>aaG	p.K468K	TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Silent_p.K468K	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	468							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAAGAAAAAAGAGGAGAGGT	0.562													18	37					0	0	0	0	G	156554971	A	G	156554971	2	3	192	1	0	0	0	0	0	0	0	1	16788	69	3	5		5	TTC24	1	156554971	Silent	SNP	A	TCGA-CR-7364-01A-11D-2012-08	9435645	156554971	92695650	28	33538											
FCRL4	83417	broad.mit.edu	37	chr1	157555966	157555966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaaactcacctctcacaGtgacattcagcaccatgctc	13	10	4	14	0	3	1	3	1	1	0	5	1	3	1	2	0	3	2	2	0	2	2	rs150996859		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:157555966G>T	ENST00000271532.1	-	6	1262	c.1127C>A	c.(1126-1128)aCt>aAt	p.T376N	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	376						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ACCTCTCACAGTGACATTCAG	0.488													40	85					3.09479e-21	4.69019e-21	1	0	T	157555966	G	T	157555966	3	4	192	1	0	0	0	0	1	0	0	0	5842	1029	36	4	448	4	FCRL4	1	157555966	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1000995	157555966	91694655	29	33539											
CD1D	912	broad.mit.edu	37	chr1	158151871	158151871	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaggtgcaccctgggaaCgcctcaaataacttcttcca	10	10	9	12	1	2	1	1	1	1	0	3	2	3	2	3	2	3	1	3	2	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:158151871C>T	ENST00000368171.3	+	4	877	c.378C>T	c.(376-378)aaC>aaT	p.N126N		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	126					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					ACCCTGGGAACGCCTCAAATA	0.493													55	169					0	0	0	0	T	158151871	C	T	158151871	2	4	192	1	0	0	0	0	0	0	0	1	3006	535	19	1		1	CD1D	1	158151871	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	595905	158151871	91098750	30	33540											
SELP	6403	broad.mit.edu	37	chr1	169582838	169582838	+	Frame_Shift_Del	DEL	G	G	-																															cctcaccgtattcacattctGgcccatagaatccagggtaa																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:169582838delG	ENST00000263686.6	-	4	612	c.575delC	c.(574-576)cafs	p.P192fs	SELP_ENST00000458599.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367792.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367794.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367788.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367793.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367791.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367786.2_Frame_Shift_Del_p.P192fs	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	192	EGF-like.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTCACATTCTGGCCCATAGAA	0.453													20	65	---	---	---	---					-	169582838	G	-	169582838	7	5	192	1	0	1	0	1	0	0	0	0	14106	1348	47	0	1969	0	SELP	1	169582838	Frame_Shift_Del	DEL	G	TCGA-CR-7364-01A-11D-2012-08	11430967	169582838	79667783	31	33541											
SELE	6401	broad.mit.edu	37	chr1	169696913	169696913	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacctcttctgtccattgtcCctgagatgtgcactcaagtt	8	14	7	12	0	3	1	1	1	2	1	5	2	5	1	3	0	2	2	3	0	2	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:169696913C>A	ENST00000333360.7	-	9	1574	c.1435G>T	c.(1435-1437)Gga>Tga	p.G479*	SELE_ENST00000367774.1_Intron|SELE_ENST00000367781.4_Nonsense_Mutation_p.G416*|SELE_ENST00000367780.4_Nonsense_Mutation_p.G354*|SELE_ENST00000367782.4_Intron|SELE_ENST00000367777.1_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367776.1_Nonsense_Mutation_p.G416*|SELE_ENST00000367775.1_Nonsense_Mutation_p.G354*|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	479	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GTCCATTGTCCCTGAGATGTG	0.428													31	99					9.65021e-13	1.32638e-12	1	0	A	169696913	C	A	169696913	4	1	192	1	0	0	0	0	0	1	0	0	14100	632	22	4	417	4	SELE	1	169696913	Nonsense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	114075	169696913	79553708	32	33542											
ASTN1	460	broad.mit.edu	37	chr1	176903411	176903411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaatggttgccgaactggtCcaacagcgccacaaaatctg	12	8	10	11	2	1	0	0	0	1	0	2	1	2	0	3	2	4	2	3	2	5	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:176903411C>A	ENST00000367654.2	-	16	2585	c.2572G>T	c.(2572-2574)Gac>Tac	p.D858Y	ASTN1_ENST00000424564.2_Missense_Mutation_p.D850Y|ASTN1_ENST00000361833.2_Missense_Mutation_p.D850Y|ASTN1_ENST00000367657.3_Missense_Mutation_p.D850Y			O14525	ASTN1_HUMAN	astrotactin 1	858					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						CCGAACTGGTCCAACAGCGCC	0.542													26	52					7.33532e-06	8.62579e-06	1	0	A	176903411	C	A	176903411	3	1	192	1	0	0	0	0	1	0	0	0	1068	855	30	2	1372	2	ASTN1	1	176903411	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	7206498	176903411	72347210	33	33543											
TPR	7175	broad.mit.edu	37	chr1	186337063	186337063	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtctctcattggttctaaTtaagtctcttttctcagctt	7	20	5	9	0	5	0	2	0	4	0	8	0	5	0	0	1	1	2	0	1	3	8			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:186337063T>C	ENST00000367478.3	-	4	678	c.382A>G	c.(382-384)Att>Gtt	p.I128V	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	128					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTGGTTCTAATTAAGTCTCTT	0.323			T	NTRK1	papillary thyroid								10	20					0	0	0	0	C	186337063	T	C	186337063	3	2	192	1	0	0	0	0	1	0	0	0	16511	1493	52	5	6901	5	TPR	1	186337063	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	9433652	186337063	62913558	34	33544											
ASPM	259266	broad.mit.edu	37	chr1	197070947	197070947	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgcagccctttgcatttcTtgtaacttcttctttaccat	7	18	4	12	0	3	0	0	0	3	0	3	0	3	0	2	0	5	3	2	0	2	8			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:197070947T>C	ENST00000367409.4	-	18	7690	c.7434A>G	c.(7432-7434)caA>caG	p.Q2478Q	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2478	IQ 26.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTGCATTTCTTGTAACTTCT	0.363													23	88					0	0	0	0	C	197070947	T	C	197070947	2	2	192	1	0	0	0	0	0	0	0	1	1060	1606	56	5		5	ASPM	1	197070947	Silent	SNP	T	TCGA-CR-7364-01A-11D-2012-08	10733884	197070947	52179674	35	33545											
CRB1	23418	broad.mit.edu	37	chr1	197397023	197397023	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtatccaagatgtaagActaaacaaccaaaatctgga	17	8	8	8	0	1	2	0	0	1	2	2	3	2	3	2	2	2	3	2	2	8	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:197397023A>T	ENST00000367397.1	+	3	1569	c.711A>T	c.(709-711)agA>agT	p.R237S	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.R337S|CRB1_ENST00000367399.2_Missense_Mutation_p.R744S|CRB1_ENST00000535699.1_Missense_Mutation_p.R787S|CRB1_ENST00000367400.3_Missense_Mutation_p.R856S			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	856	EGF-like 6; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AAGATGTAAGACTAAACAACC	0.408													9	20					0	0	0	0	T	197397023	A	T	197397023	3	4	192	1	0	0	0	0	1	0	0	0	3878	272	10	5	2594	5	CRB1	1	197397023	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	326076	197397023	51853598	36	33546											
LHX9	56956	broad.mit.edu	37	chr1	197896918	197896918	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggtctgaccaaaagagttTtgcaggtaagacacatgcat	14	9	10	8	0	1	3	0	1	1	2	1	3	1	3	1	2	2	4	1	2	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:197896918T>C	ENST00000367390.3	+	5	931	c.904T>C	c.(904-906)Ttg>Ctg	p.L302L	LHX9_ENST00000367391.1_Silent_p.L302L|LHX9_ENST00000367387.4_Silent_p.L311L|LHX9_ENST00000337020.2_Silent_p.L311L|LHX9_ENST00000561173.1_Silent_p.L317L	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	311					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CAAAAGAGTTTTGCAGGTAAG	0.483													17	63					0	0	0	0	C	197896918	T	C	197896918	2	2	192	1	0	0	0	0	0	0	0	1	8831	1838	64	5		5	LHX9	1	197896918	Silent	SNP	T	TCGA-CR-7364-01A-11D-2012-08	499895	197896918	51353703	37	33547											
PRELP	5549	broad.mit.edu	37	chr1	203453274	203453274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacctgtacctcaacaacaAtagcatcgagagtgagtggg	14	7	10	10	1	1	2	1	1	0	1	2	3	1	2	2	1	4	2	2	1	5	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:203453274A>G	ENST00000343110.2	+	2	1089	c.962A>G	c.(961-963)aAt>aGt	p.N321S		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	321					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCAACAACAATAGCATCGAG	0.572													15	36					0	0	0	0	G	203453274	A	G	203453274	3	3	192	1	0	0	0	0	1	0	0	0	12553	101	4	5	964	5	PRELP	1	203453274	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	5556356	203453274	45797347	38	33548											
REN	5972	broad.mit.edu	37	chr1	204130517	204130517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggtctggggtggggtgccGatgccaatctcgccatagta	8	9	15	9	2	2	0	0	0	2	0	3	1	2	0	3	5	2	1	3	5	4	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:204130517G>A	ENST00000367195.2	-	3	319	c.276C>T	c.(274-276)atC>atT	p.I92I	REN_ENST00000272190.8_Silent_p.I92I			P00797	RENI_HUMAN	renin	92					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTGGGGTGCCGATGCCAATCT	0.582													6	24					0	0	0	0	A	204130517	G	A	204130517	2	1	192	1	0	0	0	0	0	0	0	1	13306	1048	37	1		1	REN	1	204130517	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	677243	204130517	45120104	39	33549											
KISS1	3814	broad.mit.edu	37	chr1	204159795	204159795	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggctgctgggggctcccGgagctctcggggggcgggga	2	5	21	13	4	1	0	0	0	1	0	3	2	2	2	2	9	2	4	2	9	0	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:204159795G>T	ENST00000367194.4	-	3	382	c.234C>A	c.(232-234)tcC>tcA	p.S78S		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	78					cytoskeleton organization	extracellular region	protein binding			large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		GGGGGCTCCCGGAGCTCTCGG	0.751													5	13					1.024e-07	1.27749e-07	1	0	T	204159795	G	T	204159795	2	4	192	1	0	0	0	0	0	0	0	1	8379	1103	39	3		3	KISS1	1	204159795	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	29278	204159795	45090826	40	33550											
KLHDC8A	55220	broad.mit.edu	37	chr1	205308834	205308834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catatctcggggtgggcatgGgtgctagggacacccacatg	8	8	15	10	1	1	0	0	0	1	0	2	1	1	1	1	5	1	2	1	5	2	2	rs17853535		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:205308834G>A	ENST00000367156.3	-	6	1295	c.479C>T	c.(478-480)cCc>cTc	p.P160L	KLHDC8A_ENST00000460687.1_Missense_Mutation_p.P26L|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.P160L|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.P47L|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.P160L	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	160				P -> H (in Ref. 4; AAH36076).						breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGTGGGCATGGGTGCTAGGGA	0.567													12	50					0	0	0	0	A	205308834	G	A	205308834	3	1	192	1	0	0	0	0	1	0	0	0	8414	1232	43	4	589	4	KLHDC8A	1	205308834	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1149039	205308834	43941787	41	33551											
PM20D1	148811	broad.mit.edu	37	chr1	205797807	205797807	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcagcattctgaatcaactCaaagatgaatttcacttggg	13	12	8	8	0	5	3	4	2	1	1	5	3	5	3	0	1	2	1	0	1	4	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:205797807C>G	ENST00000367136.4	-	13	1494	c.1450G>C	c.(1450-1452)Gag>Cag	p.E484Q	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	484						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGAATCAACTCAAAGATGAAT	0.512													23	41					0	0	0	0	G	205797807	C	G	205797807	3	3	192	1	0	0	0	0	1	0	0	0	12200	835	29	2	62	2	PM20D1	1	205797807	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	488973	205797807	43452814	42	33552											
PLXNA2	5362	broad.mit.edu	37	chr1	208224624	208224624	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcaatgctccactctggctcGatgcgctggacccgagggtc	6	8	13	14	3	1	0	0	0	1	0	4	3	2	1	2	3	2	4	2	3	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:208224624G>C	ENST00000367033.3	-	16	3895	c.3138C>G	c.(3136-3138)atC>atG	p.I1046M		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1046	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACTCTGGCTCGATGCGCTGGA	0.592													9	38					0	0	0	0	C	208224624	G	C	208224624	3	2	192	1	0	0	0	0	1	0	0	0	12192	1048	37	3	2614	3	PLXNA2	1	208224624	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2426817	208224624	41025997	43	33553											
SERTAD4	56256	broad.mit.edu	37	chr1	210415652	210415652	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttcaccaccaagtaacaaActgtgctgcagcaaaggaag	15	6	9	11	0	1	0	1	0	0	0	1	1	1	1	2	1	5	5	2	1	5	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:210415652A>G	ENST00000367012.3	+	4	1271	c.1041A>G	c.(1039-1041)aaA>aaG	p.K347K		NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	347							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CAAGTAACAAACTGTGCTGCA	0.358													10	34					0	0	0	0	G	210415652	A	G	210415652	2	3	192	1	0	0	0	0	0	0	0	1	14210	40	2	5		5	SERTAD4	1	210415652	Silent	SNP	A	TCGA-CR-7364-01A-11D-2012-08	2191028	210415652	38834969	44	33554											
USH2A	7399	broad.mit.edu	37	chr1	215990367	215990367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaagaatagcaaatgtgtCcacagatagattcaggtttt	15	11	9	6	0	1	4	1	0	0	4	2	4	2	4	1	1	1	2	1	1	5	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:215990367C>T	ENST00000366943.2	-	48	9928	c.9542G>A	c.(9541-9543)gGa>gAa	p.G3181E	USH2A_ENST00000307340.3_Missense_Mutation_p.G3181E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3181	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAAATGTGTCCACAGATAGA	0.388										HNSCC(13;0.011)			20	65					0	0	0	0	T	215990367	C	T	215990367	3	4	192	1	0	0	0	0	1	0	0	0	17132	855	30	2	6166	2	USH2A	1	215990367	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	5574715	215990367	33260254	45	33555											
USH2A	7399	broad.mit.edu	37	chr1	216172316	216172316	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtactgttatagatgacactCcaaattgtaaaatcatgtgt	14	14	7	6	0	1	2	1	1	0	1	2	2	2	2	1	0	1	3	1	0	6	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:216172316C>A	ENST00000366943.2	-	34	6956	c.6570G>T	c.(6568-6570)tgG>tgT	p.W2190C	USH2A_ENST00000307340.3_Missense_Mutation_p.W2190C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2190	Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATGACACTCCAAATTGTAA	0.338										HNSCC(13;0.011)			17	55					9.16793e-09	1.17136e-08	1	0	A	216172316	C	A	216172316	3	1	192	1	0	0	0	0	1	0	0	0	17132	856	30	2	9194	2	USH2A	1	216172316	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	181949	216172316	33078305	46	33556											
MIA3	375056	broad.mit.edu	37	chr1	222803552	222803552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaaatgcttgatactcGtgtggctgaaaatagagatc	16	10	10	5	1	0	4	0	2	0	2	2	5	0	4	0	1	2	2	0	1	7	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:222803552G>C	ENST00000344922.5	+	4	3015	c.2990G>C	c.(2989-2991)cGt>cCt	p.R997P	MIA3_ENST00000344441.6_Missense_Mutation_p.R997P|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	997					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTTGATACTCGTGTGGCTGAA	0.408													32	52					0	0	0	0	C	222803552	G	C	222803552	3	2	192	1	0	0	0	0	1	0	0	0	9634	1145	40	3	3004	3	MIA3	1	222803552	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	6631236	222803552	26447069	47	33557											
PRSS38	339501	broad.mit.edu	37	chr1	228033818	228033818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacatagaaatcacgcccaCtcctgctcagccagcccctg	11	7	6	17	1	2	1	2	0	0	1	3	1	3	1	5	0	4	1	5	0	3	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:228033818C>A	ENST00000366757.3	+	5	914	c.890C>A	c.(889-891)aCt>aAt	p.T297N		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	297					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATCACGCCCACTCCTGCTCAG	0.562													15	69					1.05317e-09	1.37323e-09	1	0	A	228033818	C	A	228033818	3	1	192	1	0	0	0	0	1	0	0	0	12706	565	20	4	908	4	PRSS38	1	228033818	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	5230266	228033818	21216803	48	33558											
ACTN2	88	broad.mit.edu	37	chr1	236914832	236914832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggacggagagcggcaGtccatcatggccatccagaa	11	4	15	11	3	1	2	1	0	0	2	3	5	3	3	3	5	1	1	3	5	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:236914832G>T	ENST00000366578.4	+	15	1885	c.1719G>T	c.(1717-1719)caG>caT	p.Q573H	ACTN2_ENST00000546208.1_Missense_Mutation_p.Q67H|ACTN2_ENST00000542672.1_Missense_Mutation_p.Q573H	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	573					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGAGCGGCAGTCCATCATGG	0.547													26	66					8.58068e-18	1.26421e-17	1	0	T	236914832	G	T	236914832	3	4	192	1	0	0	0	0	1	0	0	0	205	1020	36	4	1777	4	ACTN2	1	236914832	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	8881014	236914832	12335789	49	33559											
RYR2	6262	broad.mit.edu	37	chr1	237608741	237608741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacatggatgatggcataaGtttgtcgagatcccagcatg	11	10	11	9	1	0	2	0	1	0	1	2	4	1	3	2	2	1	3	2	2	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237608741G>A	ENST00000366574.2	+	14	1528	c.1211G>A	c.(1210-1212)aGt>aAt	p.S404N	RYR2_ENST00000542537.1_Missense_Mutation_p.S388N|RYR2_ENST00000360064.6_Missense_Mutation_p.S402N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	404	MIR 5.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGGCATAAGTTTGTCGAGA	0.413													28	69					0	0	0	0	A	237608741	G	A	237608741	3	1	192	1	0	0	0	0	1	0	0	0	13854	1029	36	4	1265	4	RYR2	1	237608741	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	693909	237608741	11641880	50	33560											
RYR2	6262	broad.mit.edu	37	chr1	237780711	237780711	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttccgatacaacgaagtCatgcaagccttaaacatgtc	13	10	7	11	3	1	0	1	0	0	0	3	2	2	0	2	0	5	2	2	0	6	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237780711C>A	ENST00000366574.2	+	38	6158	c.5841C>A	c.(5839-5841)gtC>gtA	p.V1947V	RYR2_ENST00000542537.1_Silent_p.V1931V|RYR2_ENST00000360064.6_Silent_p.V1945V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1947	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAACGAAGTCATGCAAGCCT	0.443													16	40					5.01169e-05	5.79677e-05	1	0	A	237780711	C	A	237780711	2	1	192	1	0	0	0	0	0	0	0	1	13854	813	29	2		2	RYR2	1	237780711	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	171970	237780711	11469910	51	33561											
RYR2	6262	broad.mit.edu	37	chr1	237791164	237791164	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgggctcaggagtctgtcaTtgaagaccccgagctggtga	9	9	14	9	1	3	3	2	2	1	1	3	5	3	4	2	3	1	2	2	3	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237791164T>G	ENST00000366574.2	+	41	6541	c.6224T>G	c.(6223-6225)aTt>aGt	p.I2075S	RYR2_ENST00000542537.1_Missense_Mutation_p.I2059S|RYR2_ENST00000360064.6_Missense_Mutation_p.I2073S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2075	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTCTGTCATTGAAGACCCC	0.493													5	25					0	0	0	0	G	237791164	T	G	237791164	3	3	192	1	0	0	0	0	1	0	0	0	13854	1493	52	5	6386	5	RYR2	1	237791164	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	10453	237791164	11459457	52	33562											
RYR2	6262	broad.mit.edu	37	chr1	237951287	237951287	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttgtttgttttcataGgggagaagatggagaaaaag	12	15	13	1	0	1	3	1	0	0	3	1	5	1	3	0	3	0	3	0	3	4	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237951287G>A	ENST00000366574.2	+	92	13645		c.e92-1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTTTCATAGGGGAGAAGAT	0.403													5	6					0	0	0	0	A	237951287	G	A	237951287	5	1	192	1	0	0	0	0	0	0	1	0	13854	1014	35	4	13694	4	RYR2	1	237951287	Splice_Site	SNP	G	TCGA-CR-7364-01A-11D-2012-08	160123	237951287	11299334	53	33563											
ZP4	57829	broad.mit.edu	37	chr1	238046042	238046042	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccctcttggatacttacGgagcttttctggagggtcct	5	14	10	12	1	2	0	0	0	2	0	4	3	4	3	3	4	3	1	3	4	2	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:238046042G>T	ENST00000366570.4	-	11	1653	c.1495_splice	c.e11+1	p.R499_splice	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	499					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R499C(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGATACTTACGGAGCTTTTCT	0.403													10	40					1.76689e-08	2.23948e-08	1	0	T	238046042	G	T	238046042	5	4	192	1	0	0	0	0	0	0	1	0	18311	1130	39	3	135	3	ZP4	1	238046042	Splice_Site	SNP	G	TCGA-CR-7364-01A-11D-2012-08	94755	238046042	11204579	54	33564											
FMN2	56776	broad.mit.edu	37	chr1	240370893	240370893	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccgccgcctctaccCggagcaggcatactccctct	5	8	7	21	3	2	0	0	0	2	0	5	1	5	1	7	2	3	2	7	2	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:240370893C>T	ENST00000319653.9	+	5	3011	c.2781C>T	c.(2779-2781)ccC>ccT	p.P927P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	927	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGCCTCTACCCGGAGCAGGCA	0.682													29	103					0	0	0	0	T	240370893	C	T	240370893	2	4	192	1	0	0	0	0	0	0	0	1	5995	639	23	1		1	FMN2	1	240370893	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	2324851	240370893	8879728	55	33565											
FMN2	56776	broad.mit.edu	37	chr1	240371006	240371006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttcccggggcaggcatacCccttcctccccctcttcccg	3	10	7	21	2	2	0	0	0	2	0	6	0	6	0	7	3	1	2	7	3	1	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:240371006C>A	ENST00000319653.9	+	5	3124	c.2894C>A	c.(2893-2895)cCc>cAc	p.P965H		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	965	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCAGGCATACCCCTTCCTCCC	0.701													21	28					0.000229342	0.000261458	1	0	A	240371006	C	A	240371006	3	1	192	1	0	0	0	0	1	0	0	0	5995	623	22	4	2912	4	FMN2	1	240371006	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	113	240371006	8879615	56	33566											
FH	2271	broad.mit.edu	37	chr1	241669303	241669303	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taattcacgtgatcactaacCtgtaagtgcagccacttttg	11	13	7	10	1	2	1	2	1	0	0	2	1	2	1	2	0	3	2	2	0	3	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:241669303C>A	ENST00000366560.3	-	6	942	c.904_splice	c.e6+1	p.G302_splice		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	302					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GATCACTAACCTGTAAGTGCA	0.388			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer				15	31					2.31682e-05	2.69447e-05	1	0	A	241669303	C	A	241669303	5	1	192	1	0	0	0	0	0	0	1	0	5920	695	24	4	648	4	FH	1	241669303	Splice_Site	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1298297	241669303	7581318	57	33567											
KIF26B	55083	broad.mit.edu	37	chr1	245865828	245865828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactggagtgtgtgacggagCgcctggagagccgtgtcaac	8	7	16	10	3	1	2	1	1	0	1	1	5	1	4	2	3	3	0	2	3	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:245865828C>A	ENST00000366518.4	+	12	5208	c.5104C>A	c.(5104-5106)Cgc>Agc	p.R1702S	KIF26B_ENST00000407071.2_Missense_Mutation_p.R2083S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2083	Ser-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTGACGGAGCGCCTGGAGAG	0.577													22	65					1.96895e-08	2.48565e-08	1	0	A	245865828	C	A	245865828	3	1	192	1	0	0	0	0	1	0	0	0	8346	768	27	3	6305	3	KIF26B	1	245865828	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	4196525	245865828	3384793	58	33568											
OR2L8	391190	broad.mit.edu	37	chr1	248112456	248112456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcactgggtgtgggattcaGagtttcttcttcttggcatt	5	18	11	7	0	5	1	2	0	3	1	5	2	5	2	0	3	0	2	0	3	0	7			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:248112456G>T	ENST00000357191.3	+	1	297	c.297G>T	c.(295-297)caG>caT	p.Q99H	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTGGGATTCAGAGTTTCTTCT	0.428													77	212					2.65773e-34	4.25103e-34	1	0	T	248112456	G	T	248112456	3	4	192	1	0	0	0	0	1	0	0	0	11080	933	33	2	299	2	OR2L8	1	248112456	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2246628	248112456	1138165	59	33569											
APOB	338	broad.mit.edu	37	chr2	21226197	21226197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatatggtgagttttttatCtggagaggactaaacagaga	14	12	12	3	0	1	3	0	1	1	2	1	7	1	4	0	3	1	1	0	3	5	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:21226197C>T	ENST00000233242.1	-	29	12224	c.12097G>A	c.(12097-12099)Gat>Aat	p.D4033N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4033					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGTTTTTTATCTGGAGAGGAC	0.338													87	238					0	0	0	0	T	21226197	C	T	21226197	3	4	192	1	0	0	0	0	1	0	0	0	787	913	32	2	1598	2	APOB	2	21226197	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08		21226197	221973176	60	33570											
OTOF	9381	broad.mit.edu	37	chr2	26696031	26696031	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggggccgagcggtcTgggggccggtagatgaagcg	6	5	21	9	4	1	2	0	1	1	1	1	3	1	2	2	6	3	2	2	6	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:26696031T>G	ENST00000272371.2	-	29	3828	c.3702A>C	c.(3700-3702)ccA>ccC	p.P1234P	OTOF_ENST00000403946.3_Silent_p.P1234P|OTOF_ENST00000338581.6_Silent_p.P487P|OTOF_ENST00000402415.3_Silent_p.P544P|OTOF_ENST00000339598.3_Silent_p.P487P	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1234					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGAGCGGTCTGGGGGCCGGT	0.682													16	44					0	0	0	0	G	26696031	T	G	26696031	2	3	192	1	0	0	0	0	0	0	0	1	11374	1567	55	5		5	OTOF	2	26696031	Silent	SNP	T	TCGA-CR-7364-01A-11D-2012-08	5469834	26696031	216503342	61	33571											
ZNF513	130557	broad.mit.edu	37	chr2	27603383	27603383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggtggctttgcttcCttcggggcatcgtgaccggc	2	11	16	12	4	0	1	0	1	0	0	3	1	1	1	2	5	2	4	2	5	0	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:27603383C>T	ENST00000323703.6	-	1	209	c.11G>A	c.(10-12)aGg>aAg	p.R4K		NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	4					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTTGCTTCCTTCGGGGCAT	0.711													4	9					0	0	0	0	T	27603383	C	T	27603383	3	4	192	1	0	0	0	0	1	0	0	0	18053	681	24	4	1630	4	ZNF513	2	27603383	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	907352	27603383	215595990	62	33572											
WDR43	23160	broad.mit.edu	37	chr2	29169565	29169565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaagatgaagaaaatggcGaggacagagatacagcaagt	20	4	13	4	1	0	4	0	1	0	3	0	8	0	5	0	2	2	1	0	2	7	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:29169565G>A	ENST00000407426.3	+	18	2010	c.1954G>A	c.(1954-1956)Gag>Aag	p.E652K		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	652						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					agaaaatggcgaggacagaga	0.403													3	8					0	0	0	0	A	29169565	G	A	29169565	3	1	192	1	0	0	0	0	1	0	0	0	17391	1059	37	1	2024	1	WDR43	2	29169565	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1566182	29169565	214029808	63	33573											
PSME4	23198	broad.mit.edu	37	chr2	54125132	54125132	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctatatgttcaaatttccAgggccttaaaaggaggaaaa	15	10	9	7	0	1	0	1	0	0	0	2	2	2	2	3	3	0	1	3	3	7	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:54125132A>T	ENST00000404125.1	-	31	3536	c.3481T>A	c.(3481-3483)Tgg>Agg	p.W1161R	PSME4_ENST00000421748.2_Missense_Mutation_p.W305R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1161					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCAAATTTCCAGGGCCTTAAA	0.363													28	85					0	0	0	0	T	54125132	A	T	54125132	3	4	192	1	0	0	0	0	1	0	0	0	12788	188	7	5	2114	5	PSME4	2	54125132	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	24955567	54125132	189074241	64	33574											
XPO1	7514	broad.mit.edu	37	chr2	61760930	61760930	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctccttctccatggtataAgcaattcaccacattatcta	11	13	5	12	0	3	0	1	0	2	0	5	0	4	0	3	2	1	3	3	2	5	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:61760930A>G	ENST00000401558.2	-	2	830	c.103T>C	c.(103-105)Tta>Cta	p.L35L	XPO1_ENST00000406957.1_Silent_p.L35L|XPO1_ENST00000404992.2_Silent_p.L35L|XPO1_ENST00000481214.1_5'UTR	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	35	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CCATGGTATAAGCAATTCACC	0.368			Mis		CLL								16	45					0	0	0	0	G	61760930	A	G	61760930	2	3	192	1	0	0	0	0	0	0	0	1	17541	69	3	5		5	XPO1	2	61760930	Silent	SNP	A	TCGA-CR-7364-01A-11D-2012-08	7635798	61760930	181438443	65	33575											
ARHGAP25	9938	broad.mit.edu	37	chr2	69046528	69046528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtaaggcctgctctcGggtggcaatttggggagttt	6	12	14	9	1	1	0	0	0	1	0	2	1	1	1	2	5	1	4	2	5	2	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:69046528G>T	ENST00000497079.1	+	8	1497	c.1256G>T	c.(1255-1257)cGg>cTg	p.R419L	ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409220.1_Intron|ARHGAP25_ENST00000409030.3_Intron|ARHGAP25_ENST00000295381.3_Intron|ARHGAP25_ENST00000409202.3_Intron|ARHGAP25_ENST00000479844.1_Intron			P42331	RHG25_HUMAN	Rho GTPase activating protein 25	0					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCCTGCTCTCGGGTGGCAATT	0.522													7	22					2.7689e-08	3.48859e-08	1	0	T	69046528	G	T	69046528	3	4	192	1	0	0	0	0	1	0	0	0	876	1131	39	3		3	ARHGAP25	2	69046528	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	7285598	69046528	174152845	66	33576											
DYSF	8291	broad.mit.edu	37	chr2	71825794	71825794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacgctcatcttctacgaGatcgagatctttggcgagcc	9	10	10	12	4	4	3	1	0	3	3	5	6	4	3	1	1	2	1	1	1	1	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:71825794G>T	ENST00000258104.3	+	33	3898	c.3621G>T	c.(3619-3621)gaG>gaT	p.E1207D	DYSF_ENST00000409651.1_Missense_Mutation_p.E1239D|DYSF_ENST00000409366.1_Missense_Mutation_p.E1208D|DYSF_ENST00000394120.2_Missense_Mutation_p.E1208D|DYSF_ENST00000409582.3_Missense_Mutation_p.E1224D|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.E1194D|DYSF_ENST00000413539.2_Missense_Mutation_p.E1238D|DYSF_ENST00000410020.3_Missense_Mutation_p.E1225D|DYSF_ENST00000410041.1_Missense_Mutation_p.E1225D|DYSF_ENST00000429174.2_Missense_Mutation_p.E1207D|DYSF_ENST00000409762.1_Missense_Mutation_p.E1224D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1207	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTTCTACGAGATCGAGATCT	0.567													29	55					5.45727e-16	7.80488e-16	1	0	T	71825794	G	T	71825794	3	4	192	1	0	0	0	0	1	0	0	0	4895	933	33	2	3943	2	DYSF	2	71825794	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2779266	71825794	171373579	67	33577											
DCTN1	1639	broad.mit.edu	37	chr2	74594514	74594514	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctgcatagtacagtcctCaggctgttcggcaaggtgga	9	9	13	10	1	1	0	1	0	0	0	3	1	2	1	1	4	3	6	1	4	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:74594514C>G	ENST00000361874.3	-	19	2535	c.2218G>C	c.(2218-2220)Gag>Cag	p.E740Q	DCTN1_ENST00000409567.3_Missense_Mutation_p.E720Q|DCTN1_ENST00000409438.1_Missense_Mutation_p.E606Q|DCTN1_ENST00000409868.1_Missense_Mutation_p.E723Q|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Missense_Mutation_p.E703Q|DCTN1_ENST00000407639.2_Missense_Mutation_p.E606Q|DCTN1_ENST00000394003.3_Missense_Mutation_p.E733Q	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	740					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTACAGTCCTCAGGCTGTTCG	0.527													18	37					0	0	0	0	G	74594514	C	G	74594514	3	3	192	1	0	0	0	0	1	0	0	0	4338	835	29	2	1674	2	DCTN1	2	74594514	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	2768720	74594514	168604859	68	33578											
REG3A	5068	broad.mit.edu	37	chr2	79384406	79384406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acattacagttataatctttCcacctcagaaatgctggaga	14	12	6	9	0	2	2	1	0	1	2	3	3	3	2	2	1	2	2	2	1	4	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:79384406C>A	ENST00000393878.1	-	5	728	c.474G>T	c.(472-474)tgG>tgT	p.W158C	REG3A_ENST00000305165.2_Missense_Mutation_p.W158C|REG3A_ENST00000409839.3_Missense_Mutation_p.W158C	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	158	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TATAATCTTTCCACCTCAGAA	0.458													19	35					3.51602e-12	4.78088e-12	1	0	A	79384406	C	A	79384406	3	1	192	1	0	0	0	0	1	0	0	0	13294	856	30	2	57	2	REG3A	2	79384406	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	4789892	79384406	163814967	69	33579											
CTNNA2	1496	broad.mit.edu	37	chr2	80136849	80136849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacgcgagacgaccggCgcgagaggatcgtggcggag	8	3	18	12	8	0	2	0	0	0	2	1	7	0	4	2	4	1	1	2	4	0	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:80136849C>A	ENST00000466387.1	+	11	1706	c.982C>A	c.(982-984)Cgc>Agc	p.R328S	CTNNA2_ENST00000361291.4_Missense_Mutation_p.R362S|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R328S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R328S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R328S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R328S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	328					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGACGACCGGCGCGAGAGGAT	0.637													27	94					4.22769e-11	5.67566e-11	1	0	A	80136849	C	A	80136849	3	1	192	1	0	0	0	0	1	0	0	0	4045	768	27	3		3	CTNNA2	2	80136849	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	752443	80136849	163062524	70	33580											
SH2D6	284948	broad.mit.edu	37	chr2	85662935	85662935	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccctgggccgggagggcagGaaccgtgaggaggtgggagc	7	3	22	9	2	0	1	0	1	0	0	0	5	0	5	3	7	2	1	3	7	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:85662935G>C	ENST00000389938.2	+	19	1617	c.303G>C	c.(301-303)agG>agC	p.R101S	SH2D6_ENST00000340326.2_Missense_Mutation_p.R133S|SH2D6_ENST00000481426.2_3'UTR			Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	133	SH2.									central_nervous_system(1)|lung(2)	3						GGGAGGGCAGGAACCGTGAGG	0.637													5	5					0	0	0	0	C	85662935	G	C	85662935	3	2	192	1	0	0	0	0	1	0	0	0	14325	1165	41	2	409	2	SH2D6	2	85662935	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	5526086	85662935	157536438	71	33581											
CNGA3	1261	broad.mit.edu	37	chr2	99013410	99013410	+	Frame_Shift_Del	DEL	G	G	-																															aggccctcaccgagtaccccGaagccaagaaggccctggag																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:99013410delG	ENST00000393504.1	+	8	2194	c.1777delG	c.(1777-1779)aafs	p.E593fs	CNGA3_ENST00000409937.1_Frame_Shift_Del_p.E597fs|CNGA3_ENST00000272602.2_Frame_Shift_Del_p.E593fs|CNGA3_ENST00000436404.2_Frame_Shift_Del_p.E575fs	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	593			E -> K (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CGAGTACCCCGAAGCCAAGAA	0.612													28	45	---	---	---	---					-	99013410	G	-	99013410	7	5	192	1	0	1	0	1	0	0	0	0	3628	1059	37	0	1803	0	CNGA3	2	99013410	Frame_Shift_Del	DEL	G	TCGA-CR-7364-01A-11D-2012-08	13350475	99013410	144185963	72	33582											
C2orf49	79074	broad.mit.edu	37	chr2	105954021	105954021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggggctttgtgggtagccGactggggtctcctggcgacg	3	9	19	10	4	1	0	0	0	1	0	2	2	1	0	2	6	1	2	2	6	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:105954021G>A	ENST00000437250.2	+	1	206	c.91G>A	c.(91-93)Gac>Aac	p.D31N	C2orf49_ENST00000410049.1_5'UTR|C2orf49_ENST00000258457.2_5'UTR			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	0						tRNA-splicing ligase complex				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						GTGGGTAGCCGACTGGGGTCT	0.672													8	21					0	0	0	0	A	105954021	G	A	105954021	3	1	192	1	0	0	0	0	1	0	0	0	2191	1073	37	1		1	C2orf49	2	105954021	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	6940611	105954021	137245352	73	33583											
MERTK	10461	broad.mit.edu	37	chr2	112751909	112751909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgctacgtgcacagtgAggattgcagccgtcaccaga	12	7	11	11	2	1	2	1	1	0	1	1	3	1	3	2	1	5	3	2	1	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:112751909A>G	ENST00000295408.4	+	9	1635	c.1378A>G	c.(1378-1380)Agg>Ggg	p.R460G	MERTK_ENST00000421804.2_Missense_Mutation_p.R460G|MERTK_ENST00000409780.1_Missense_Mutation_p.R284G			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	460	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGCACAGTGAGGATTGCAGC	0.527													55	125					0	0	0	0	G	112751909	A	G	112751909	3	3	192	1	0	0	0	0	1	0	0	0	9548	295	11	5	1412	5	MERTK	2	112751909	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	6797888	112751909	130447464	74	33584											
CNTNAP5	129684	broad.mit.edu	37	chr2	125547524	125547524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctaggatgcattcgctCcttacacttgaatggacaga	10	12	8	11	1	0	2	0	1	0	1	3	4	2	4	2	2	2	2	2	2	3	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:125547524C>A	ENST00000431078.1	+	18	3159	c.2795C>A	c.(2794-2796)tCc>tAc	p.S932Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	932	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S932Y(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCATTCGCTCCTTACACTTG	0.493													26	41					1.1804e-14	1.6583e-14	1	0	A	125547524	C	A	125547524	3	1	192	1	0	0	0	0	1	0	0	0	3680	855	30	2	2865	2	CNTNAP5	2	125547524	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	12795615	125547524	117651849	75	33585											
NCKAP5	344148	broad.mit.edu	37	chr2	133542404	133542404	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acacattcttctgaagaagtCctttttacaactctttgctg	10	16	5	10	0	3	2	0	1	3	1	4	2	4	2	1	0	3	1	1	0	4	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:133542404C>G	ENST00000409261.1	-	14	2353	c.1980G>C	c.(1978-1980)agG>agC	p.R660S	NCKAP5_ENST00000317721.6_Missense_Mutation_p.R660S|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	660							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGAAGAAGTCCTTTTTACAA	0.443													31	89					0	0	0	0	G	133542404	C	G	133542404	3	3	192	1	0	0	0	0	1	0	0	0	10293	854	30	2	3777	2	NCKAP5	2	133542404	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	7994880	133542404	109656969	76	33586											
GALNT13	114805	broad.mit.edu	37	chr2	155157934	155157934	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcccagatttggcaatgtGgaggctccttggagattgtt	7	15	12	7	0	0	2	0	0	0	2	2	4	2	3	2	4	0	3	2	4	1	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:155157934G>T	ENST00000392825.3	+	9	1555	c.988G>T	c.(988-990)Gga>Tga	p.G330*	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Nonsense_Mutation_p.G330*	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	330	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTGGCAATGTGGAGGCTCCTT	0.403													51	131					1.39843e-22	2.13976e-22	1	0	T	155157934	G	T	155157934	4	4	192	1	0	0	0	0	0	1	0	0	6260	1349	47	4	1014	4	GALNT13	2	155157934	Nonsense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	21615530	155157934	88041439	77	33587											
DHRS9	10170	broad.mit.edu	37	chr2	169938164	169938164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaaaggaaaactaaagattGaagacatcactgataagtac	20	8	8	5	0	1	4	1	2	0	2	1	5	1	5	0	1	2	2	0	1	9	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:169938164G>A	ENST00000327239.4	+	5	1577	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	DHRS9_ENST00000412271.1_Missense_Mutation_p.E25K|DHRS9_ENST00000357546.2_Missense_Mutation_p.E25K|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000432060.2_Missense_Mutation_p.E85K|DHRS9_ENST00000436483.2_Missense_Mutation_p.E25K|DHRS9_ENST00000602501.1_Missense_Mutation_p.E25K|DHRS9_ENST00000428522.1_Missense_Mutation_p.E25K	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	25					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACTAAAGATTGAAGACATCAC	0.418													24	59					0	0	0	0	A	169938164	G	A	169938164	3	1	192	1	0	0	0	0	1	0	0	0	4535	1291	45	2	75	2	DHRS9	2	169938164	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	14780230	169938164	73261209	78	33588											
TTN	7273	broad.mit.edu	37	chr2	179404975	179404975	+	Frame_Shift_Del	DEL	G	G	-																															ttcatgttgatctactttttGcatttcaatcaagtagcctg																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179404975delG	ENST00000589042.1	-	351	98142	c.97918delC	c.(97918-97920)aafs	p.Q32640fs	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.Q30999fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.Q30072fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.Q23575fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.Q23767fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.Q23700fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30999	Ig-like 144.						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)			TCTACTTTTTGCATTTCAATC	0.443													74	214	---	---	---	---					-	179404975	G	-	179404975	7	5	192	1	0	1	0	1	0	0	0	0	16831	1328	46	0	10109	0	TTN	2	179404975	Frame_Shift_Del	DEL	G	TCGA-CR-7364-01A-11D-2012-08	9466811	179404975	63794398	79	33589											
TTN	7273	broad.mit.edu	37	chr2	179470318	179470318	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggtttgtcatgacgccGtttttcaatgatatatcctt	8	17	8	8	2	3	2	3	2	0	0	4	2	4	2	2	1	0	2	2	1	3	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179470318G>T	ENST00000589042.1	-	279	53928	c.53704C>A	c.(53704-53706)Cgg>Agg	p.R17902R	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.R15334R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.R8962R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.R9029R|TTN_ENST00000591111.1_Silent_p.R16261R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Silent_p.R8837R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16261	Fibronectin type-III 29.						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)			TCATGACGCCGTTTTTCAATG	0.433													26	97					4.59853e-10	6.08347e-10	1	0	T	179470318	G	T	179470318	2	4	192	1	0	0	0	0	0	0	0	1	16831	1144	40	3		3	TTN	2	179470318	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	65343	179470318	63729055	80	33590											
TTN	7273	broad.mit.edu	37	chr2	179556770	179556770	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagcagcaggttccttctTaggcacaggaactggctttt	8	11	13	9	0	1	0	0	0	1	0	2	2	2	2	1	5	3	5	1	5	2	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179556770T>C	ENST00000589042.1	-	121	31959	c.31735A>G	c.(31735-31737)Aag>Gag	p.K10579E	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K9335E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K10262E|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10262	Glu-rich.|Pro-rich.						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)			GGTTCCTTCTTAGGCACAGGA	0.458													18	43					0	0	0	0	C	179556770	T	C	179556770	3	2	192	1	0	0	0	0	1	0	0	0	16831	1763	61	5	72762	5	TTN	2	179556770	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	86452	179556770	63642603	81	33591											
TTN	7273	broad.mit.edu	37	chr2	179597011	179597011	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttactttgcaggctagcTgggtggcatctcccttcttt	5	15	10	11	0	2	0	0	0	2	0	3	0	2	0	1	3	3	5	1	3	2	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179597011T>A	ENST00000589042.1	-	57	16909	c.16685A>T	c.(16684-16686)cAg>cTg	p.Q5562L	TTN_ENST00000342992.6_Missense_Mutation_p.Q4318L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q5245L|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5245	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGGCTAGCTGGGTGGCATC	0.403													55	112					0	0	0	0	A	179597011	T	A	179597011	3	1	192	1	0	0	0	0	1	0	0	0	16831	1580	55	5	88068	5	TTN	2	179597011	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	40241	179597011	63602362	82	33592											
TTN	7273	broad.mit.edu	37	chr2	179639041	179639041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggttctgacgtccacgaCgagatgtaattgtatatttg	10	14	11	6	3	1	3	0	2	1	1	2	5	2	3	1	1	0	3	1	1	3	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179639041C>A	ENST00000589042.1	-	30	7174	c.6950G>T	c.(6949-6951)cGt>cTt	p.R2317L	TTN_ENST00000342992.6_Missense_Mutation_p.R2317L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R2271L|TTN_ENST00000360870.5_Missense_Mutation_p.R2317L|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R2271L|TTN_ENST00000591111.1_Missense_Mutation_p.R2317L|TTN_ENST00000460472.2_Missense_Mutation_p.R2271L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2032	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R2271H(3)|p.R2317H(2)		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)			ACGTCCACGACGAGATGTAAT	0.408													34	88					3.62531e-18	5.36613e-18	1	0	A	179639041	C	A	179639041	3	1	192	1	0	0	0	0	1	0	0	0	16831	536	19	3	104370	3	TTN	2	179639041	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	42030	179639041	63560332	83	33593											
ITGA4	3676	broad.mit.edu	37	chr2	182392030	182392030	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtttttaccaggtttgtAaacccaacttcatttgtgta	9	19	6	7	0	1	0	1	0	0	0	1	0	1	0	2	1	3	4	2	1	5	9			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:182392030A>G	ENST00000397033.2	+	22	2776	c.2346A>G	c.(2344-2346)gtA>gtG	p.V782V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	782					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCAGGTTTGTAAACCCAACTT	0.299													3	34					0	0	0	0	G	182392030	A	G	182392030	2	3	192	1	0	0	0	0	0	0	0	1	7931	349	13	5		5	ITGA4	2	182392030	Silent	SNP	A	TCGA-CR-7364-01A-11D-2012-08	2752989	182392030	60807343	84	33594											
DNAH7	56171	broad.mit.edu	37	chr2	196749473	196749473	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaatcttattaaatttcaAtcgatcatcatctgtacaag	16	14	4	7	1	5	1	3	0	2	1	6	2	5	1	0	0	1	1	0	0	8	4	rs149685696	by1000genomes	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:196749473A>G	ENST00000312428.6	-	35	5699	c.5599T>C	c.(5599-5601)Ttg>Ctg	p.L1867L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1867					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTAAATTTCAATCGATCATCA	0.358													11	34					0	0	0	0	G	196749473	A	G	196749473	2	3	192	1	0	0	0	0	0	0	0	1	4642	98	4	5		5	DNAH7	2	196749473	Silent	SNP	A	TCGA-CR-7364-01A-11D-2012-08	14357443	196749473	46449900	85	33595											
PARD3B	117583	broad.mit.edu	37	chr2	205986412	205986412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtatgaaaagtcagtcattGgctctcttaacatttttggt	11	16	8	6	0	3	1	2	1	1	0	4	1	3	1	0	2	1	2	0	2	4	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:205986412G>A	ENST00000406610.2	+	8	1111	c.904G>A	c.(904-906)Ggc>Agc	p.G302S	PARD3B_ENST00000358768.2_Missense_Mutation_p.G302S|PARD3B_ENST00000462231.1_Missense_Mutation_p.G302S|PARD3B_ENST00000351153.1_Missense_Mutation_p.G302S|PARD3B_ENST00000349953.3_Missense_Mutation_p.G302S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	302					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GTCAGTCATTGGCTCTCTTAA	0.463													34	38					0	0	0	0	A	205986412	G	A	205986412	3	1	192	1	0	0	0	0	1	0	0	0	11515	1348	47	4	934	4	PARD3B	2	205986412	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	9236939	205986412	37212961	86	33596											
MDH1B	130752	broad.mit.edu	37	chr2	207620081	207620081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgcgcaggacgggagatgCcaggtcttgggtctccacca	8	7	14	12	2	2	1	0	0	2	1	3	3	2	2	3	4	2	1	3	4	0	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:207620081C>T	ENST00000374412.3	-	5	837	c.562G>A	c.(562-564)Gca>Aca	p.A188T	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.A188T|MDH1B_ENST00000449792.1_Missense_Mutation_p.A90T	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	188					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ACGGGAGATGCCAGGTCTTGG	0.532													17	31					0	0	0	0	T	207620081	C	T	207620081	3	4	192	1	0	0	0	0	1	0	0	0	9478	739	26	4	1026	4	MDH1B	2	207620081	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1633669	207620081	35579292	87	33597											
CREB1	1385	broad.mit.edu	37	chr2	208420421	208420421	+	Frame_Shift_Del	DEL	A	A	-																															tgcagctgtaacagaagctgAaaaccaacaaatgacagttc																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:208420421delA	ENST00000432329.2	+	2	313	c.62delA	c.(61-63)gafs	p.E21fs	CREB1_ENST00000430624.1_Frame_Shift_Del_p.E21fs|CREB1_ENST00000374397.4_Frame_Shift_Del_p.E21fs|CREB1_ENST00000353267.3_Frame_Shift_Del_p.E21fs|CREB1_ENST00000536726.1_Frame_Shift_Del_p.E21fs	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	21					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	ACAGAAGCTGAAAACCAACAA	0.433			T	EWSR1	"clear cell sarcoma, angiomatoid fibrous histiocytoma"								10	17	---	---	---	---					-	208420421	A	-	208420421	7	5	192	1	0	1	0	1	0	0	0	0	3884	246	9	0	64	0	CREB1	2	208420421	Frame_Shift_Del	DEL	A	TCGA-CR-7364-01A-11D-2012-08	800340	208420421	34778952	88	33598											
CRYGB	1419	broad.mit.edu	37	chr2	209010545	209010545	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcgctgaggcccatccAttgctggtagtcagggtact	7	10	14	10	1	1	1	1	1	0	0	3	2	2	2	2	4	2	4	2	4	2	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:209010545A>G	ENST00000260988.4	-	2	252	c.205T>C	c.(205-207)Tgg>Cgg	p.W69R		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	69	Beta/gamma crystallin 'Greek key' 2.	Susceptible to oxidation.			visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGGCCCATCCATTGCTGGTAG	0.572													21	44					0	0	0	0	G	209010545	A	G	209010545	3	3	192	1	0	0	0	0	1	0	0	0	3945	217	8	5	330	5	CRYGB	2	209010545	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	590124	209010545	34188828	89	33599											
PIKFYVE	200576	broad.mit.edu	37	chr2	209153476	209153476	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattcatccagattcctcaaAtactcctctttcaacaagac	13	12	3	13	0	4	2	3	0	1	2	7	3	7	2	3	0	2	0	3	0	4	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:209153476A>G	ENST00000264380.4	+	7	1003	c.845A>G	c.(844-846)aAt>aGt	p.N282S	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.N196S|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.N185S|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.N282S	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	282					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATTCCTCAAATACTCCTCTT	0.358													19	29					0	0	0	0	G	209153476	A	G	209153476	3	3	192	1	0	0	0	0	1	0	0	0	11996	101	4	5	867	5	PIKFYVE	2	209153476	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	142931	209153476	34045897	90	33600											
SMARCAL1	50485	broad.mit.edu	37	chr2	217279485	217279485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgaagagaatcgacaaaagGctctggcccgcagagctgag	13	6	13	9	2	1	4	0	2	1	2	2	6	1	4	1	2	1	3	1	2	4	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:217279485G>T	ENST00000357276.4	+	3	388	c.58G>T	c.(58-60)Gct>Tct	p.A20S	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.A20S	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	20					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TCGACAAAAGGCTCTGGCCCG	0.493									Schimke Immuno-Osseous Dysplasia				53	75					6.81593e-30	1.07397e-29	1	0	T	217279485	G	T	217279485	3	4	192	1	0	0	0	0	1	0	0	0	14861	1203	42	4	60	4	SMARCAL1	2	217279485	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	8126009	217279485	25919888	91	33601											
COL6A3	1293	broad.mit.edu	37	chr2	238303598	238303598	+	Frame_Shift_Del	DEL	C	C	-																															cttttccagtctgattggttCccccaatataagacatgttg																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:238303598delC	ENST00000295550.4	-	3	793	c.341delG	c.(340-342)gafs	p.G114fs	COL6A3_ENST00000347401.3_Frame_Shift_Del_p.G114fs|COL6A3_ENST00000346358.4_Frame_Shift_Del_p.G114fs|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000409809.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	114	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGATTGGTTCCCCCAATATA	0.458													22	90	---	---	---	---					-	238303598	C	-	238303598	7	5	192	1	0	1	0	1	0	0	0	0	3731	855	30	0	9407	0	COL6A3	2	238303598	Frame_Shift_Del	DEL	C	TCGA-CR-7364-01A-11D-2012-08	21024113	238303598	4895775	92	33602											
GRIP2	80852	broad.mit.edu	37	chr3	14555833	14555833	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggctcgatgaagcacAcgaggggtggggaggacagg	10	5	19	7	2	1	1	1	1	0	0	2	5	1	3	0	7	1	2	0	7	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:14555833A>C	ENST00000273083.3	-	0	1524							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GATGAAGCACACGAGGGGTGG	0.642													3	3					0	0	0	0	C	14555833	A	C	14555833	1	2	192	0	1	0	0	0	0	0	0	0	6838	159	6	5		5	GRIP2	3	14555833	RNA	SNP	A	TCGA-CR-7364-01A-11D-2012-08		14555833	183466597	93	33603											
OXSM	54995	broad.mit.edu	37	chr3	25835674	25835674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccacaccattgggagatGctgctgaaaacaaagctatc	13	9	8	11	0	0	2	0	1	0	1	2	3	1	2	2	1	4	3	2	1	4	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:25835674G>A	ENST00000280701.3	+	3	1168	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	OXSM_ENST00000420173.2_Missense_Mutation_p.A274T	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	357					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.A357S(2)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ATTGGGAGATGCTGCTGAAAA	0.453													18	21					0	0	0	0	A	25835674	G	A	25835674	3	1	192	1	0	0	0	0	1	0	0	0	11406	1319	46	4	1075	4	OXSM	3	25835674	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	11279841	25835674	172186756	94	33604											
DCLK3	85443	broad.mit.edu	37	chr3	36779796	36779796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatgcttctctccccttgCgtgcctctcttccagagtgg	5	13	9	14	1	2	2	0	0	2	2	6	2	4	2	4	1	3	1	4	1	1	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:36779796C>A	ENST00000416516.2	-	2	845	c.355G>T	c.(355-357)Gca>Tca	p.A119S		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	119						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTCCCCTTGCGTGCCTCTCT	0.567													54	109					6.3008e-33	9.97758e-33	1	0	A	36779796	C	A	36779796	3	1	192	1	0	0	0	0	1	0	0	0	4325	768	27	3	1607	3	DCLK3	3	36779796	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	10944122	36779796	161242634	95	33605											
XIRP1	165904	broad.mit.edu	37	chr3	39228156	39228156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctatgcagctggccaacagCtgcacgctgctcctctcaga	8	9	9	15	1	2	1	1	0	2	1	4	1	3	1	2	1	6	6	2	1	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:39228156C>A	ENST00000340369.3	-	2	3009	c.2781G>T	c.(2779-2781)caG>caT	p.Q927H	XIRP1_ENST00000396251.1_Missense_Mutation_p.Q927H|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	927							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGCCAACAGCTGCACGCTGC	0.647													26	40					1.7881e-09	2.32197e-09	1	0	A	39228156	C	A	39228156	3	1	192	1	0	0	0	0	1	0	0	0	17525	796	28	4	2754	4	XIRP1	3	39228156	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	2448360	39228156	158794274	96	33606											
ZNF621	285268	broad.mit.edu	37	chr3	40570897	40570897	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgcagagggccctgtacgggGaggtgatgctggagaattat	9	8	17	7	2	0	3	0	1	0	2	0	5	0	4	1	5	2	3	1	5	3	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:40570897G>C	ENST00000339296.5	+	3	564	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	ZNF621_ENST00000403205.2_Missense_Mutation_p.E38Q|ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000431278.1_Intron|ZNF621_ENST00000310898.1_Missense_Mutation_p.E38Q	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CCTGTACGGGGAGGTGATGCT	0.527													44	91					0	0	0	0	C	40570897	G	C	40570897	3	2	192	1	0	0	0	0	1	0	0	0	18140	1175	41	2	118	2	ZNF621	3	40570897	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1342741	40570897	157451533	97	33607											
KIF15	56992	broad.mit.edu	37	chr3	44894181	44894181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggagacagaaaagttgcGtgccgaaaatgtatttttaa	15	12	10	4	2	0	2	0	0	0	2	0	4	0	2	1	1	2	2	1	1	7	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:44894181G>A	ENST00000326047.4	+	35	4270	c.4121G>A	c.(4120-4122)cGt>cAt	p.R1374H	KIF15_ENST00000425755.1_Missense_Mutation_p.R1009H	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1374					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAAAGTTGCGTGCCGAAAAT	0.318													7	24					0	0	0	0	A	44894181	G	A	44894181	3	1	192	1	0	0	0	0	1	0	0	0	8328	1145	40	1	4259	1	KIF15	3	44894181	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4323284	44894181	153128249	98	33608											
ARIH2	10425	broad.mit.edu	37	chr3	49020700	49020700	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaagatttccatgacacCtaagttgggatgtggatgtg	11	12	12	6	0	0	3	0	2	0	1	1	5	1	5	2	2	0	1	2	2	2	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:49020700C>G	ENST00000356401.4	+	16	1818	c.1479C>G	c.(1477-1479)acC>acG	p.T493T	RP13-131K19.1_ENST00000415982.1_RNA|ARIH2_ENST00000449376.1_Silent_p.T493T|RP13-131K19.1_ENST00000429681.1_RNA	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	493					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCCATGACACCTAAGTTGGGA	0.547													49	125					0	0	0	0	G	49020700	C	G	49020700	2	3	192	1	0	0	0	0	0	0	0	1	926	668	24	4		4	ARIH2	3	49020700	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	4126519	49020700	149001730	99	33609											
BSN	8927	broad.mit.edu	37	chr3	49691751	49691751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcacctactgaaaccCagcccaccacccatggctac	10	7	5	19	0	2	1	1	1	1	0	2	1	2	1	5	1	5	2	5	1	3	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:49691751C>G	ENST00000296452.4	+	5	4876	c.4762C>G	c.(4762-4764)Cag>Gag	p.Q1588E		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1588					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TACTGAAACCCAGCCCACCAC	0.627													18	33					0	0	0	0	G	49691751	C	G	49691751	3	3	192	1	0	0	0	0	1	0	0	0	1538	595	21	4	4780	4	BSN	3	49691751	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	671051	49691751	148330679	100	33610											
SEMA3B	7869	broad.mit.edu	37	chr3	50314079	50314079	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagggccgtaaccggaGgacccacgcccctgagcctc	10	3	13	15	3	0	2	0	1	0	1	1	5	0	4	6	3	2	1	6	3	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:50314079G>A	ENST00000418948.1	+	0	2426							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGTAACCGGAGGACCCACGCC	0.721													3	9					0	0	0	0	A	50314079	G	A	50314079	1	1	192	0	1	0	0	0	0	0	0	0	14112	1000	35	4		4	SEMA3B	3	50314079	RNA	SNP	G	TCGA-CR-7364-01A-11D-2012-08	622328	50314079	147708351	101	33611											
DNAH1	25981	broad.mit.edu	37	chr3	52428568	52428568	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtcagaccgggcttggCgagacatcctagcactctcg	7	8	13	13	3	2	2	1	0	1	2	4	3	3	2	2	3	1	3	2	3	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:52428568C>A	ENST00000420323.2	+	67	10975	c.10714C>A	c.(10714-10716)Cga>Aga	p.R3572R		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3637					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGGGCTTGGCGAGACATCCT	0.572													11	31					3.07112e-06	3.65198e-06	1	0	A	52428568	C	A	52428568	2	1	192	1	0	0	0	0	0	0	0	1	4634	760	27	3		3	DNAH1	3	52428568	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	2114489	52428568	145593862	102	33612											
ITIH4	3700	broad.mit.edu	37	chr3	52857966	52857966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcagaagaggctgtacCggccacttacagcttcccgc	9	6	11	15	2	0	2	0	0	0	2	1	2	1	2	4	3	3	4	4	3	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:52857966C>T	ENST00000266041.4	-	10	1322	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000485816.1_Missense_Mutation_p.R409Q|ITIH4_ENST00000434759.3_Missense_Mutation_p.R321Q|ITIH4_ENST00000346281.5_Missense_Mutation_p.R409Q|ITIH4_ENST00000406595.1_Missense_Mutation_p.R409Q	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	409	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GAGGCTGTACCGGCCACTTAC	0.582													17	23					0	0	0	0	T	52857966	C	T	52857966	3	4	192	1	0	0	0	0	1	0	0	0	7959	652	23	1	1626	1	ITIH4	3	52857966	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	429398	52857966	145164464	103	33613											
CNTN3	5067	broad.mit.edu	37	chr3	74347306	74347306	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaaagcaacaacataccCaaaaccttcaccattctgta	16	7	5	13	1	2	0	1	0	1	0	2	1	2	1	3	1	5	2	3	1	7	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:74347306C>G	ENST00000263665.6	-	17	2230	c.2203G>C	c.(2203-2205)Ggg>Cgg	p.G735R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	735	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACAACATACCCAAAACCTTCA	0.458													8	24					0	0	0	0	G	74347306	C	G	74347306	3	3	192	1	0	0	0	0	1	0	0	0	3672	594	21	4	907	4	CNTN3	3	74347306	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	21489340	74347306	123675124	104	33614											
VGLL3	389136	broad.mit.edu	37	chr3	87018113	87018113	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgatgcaggttgtgtccCggccaaggactgggatcagc	7	9	15	10	1	2	1	1	1	1	0	3	3	3	3	2	4	2	2	2	4	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:87018113C>A	ENST00000398399.2	-	3	927	c.564G>T	c.(562-564)ccG>ccT	p.P188P	VGLL3_ENST00000383698.3_Silent_p.P188P	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GGTTGTGTCCCGGCCAAGGAC	0.597													37	50					8.73648e-17	1.26949e-16	1	0	A	87018113	C	A	87018113	2	1	192	1	0	0	0	0	0	0	0	1	17256	639	23	3		3	VGLL3	3	87018113	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	12670807	87018113	111004317	105	33615											
OR5K4	403278	broad.mit.edu	37	chr3	98072954	98072954	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagatgttagagaatttctTttctgaggatagaattattt	13	17	8	3	0	2	4	0	1	2	3	2	6	2	5	0	1	0	1	0	1	6	7			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:98072954T>A	ENST00000354924.2	+	1	257	c.257T>A	c.(256-258)tTt>tAt	p.F86Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GAGAATTTCTTTTCTGAGGAT	0.438													115	268					0	0	0	0	A	98072954	T	A	98072954	3	1	192	1	0	0	0	0	1	0	0	0	11240	1841	64	5	259	5	OR5K4	3	98072954	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	11054841	98072954	99949476	106	33616											
KIAA1524	57650	broad.mit.edu	37	chr3	108270064	108270064	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtggatcattgctatcaTgtgggagtgtttgttcaatt	8	17	11	5	0	3	0	3	0	0	0	3	2	3	2	0	2	1	3	0	2	2	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:108270064T>C	ENST00000295746.8	-	21	2726	c.2650A>G	c.(2650-2652)Atg>Gtg	p.M884V	KIAA1524_ENST00000491772.1_Missense_Mutation_p.M725V	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	884						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTGCTATCATGTGGGAGTGT	0.378													10	45					0	0	0	0	C	108270064	T	C	108270064	3	2	192	1	0	0	0	0	1	0	0	0	8290	1464	51	5	71	5	KIAA1524	3	108270064	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	10197110	108270064	89752366	107	33617											
SEC61A1	29927	broad.mit.edu	37	chr3	127783841	127783841	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaacctcatgaatctcatCgccaccatctttgtctttgc	8	13	4	16	1	4	1	2	1	3	0	6	1	4	1	4	0	2	0	4	0	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:127783841C>T	ENST00000243253.3	+	8	922	c.738C>T	c.(736-738)atC>atT	p.I246I	SEC61A1_ENST00000483956.1_Intron|RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000464451.1_Silent_p.I252I|SEC61A1_ENST00000424880.2_Silent_p.I126I	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	246					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TGAATCTCATCGCCACCATCT	0.512													31	115					0	0	0	0	T	127783841	C	T	127783841	2	4	192	1	0	0	0	0	0	0	0	1	14087	874	31	1		1	SEC61A1	3	127783841	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	19513777	127783841	70238589	108	33618											
PLXND1	23129	broad.mit.edu	37	chr3	129304823	129304823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctggcgcacatcgatctcgGaaggcaggacggtcatggca	9	6	14	12	4	2	0	1	0	1	0	4	3	2	2	1	6	0	3	1	6	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:129304823G>A	ENST00000393239.1	-	5	2001	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	PLXND1_ENST00000324093.4_Missense_Mutation_p.S608F			Q9Y4D7	PLXD1_HUMAN	plexin D1	608					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ATCGATCTCGGAAGGCAGGAC	0.657													10	213					0	0	0	0	A	129304823	G	A	129304823	3	1	192	1	0	0	0	0	1	0	0	0	12199	1174	41	2	4082	2	PLXND1	3	129304823	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1520982	129304823	68717607	109	33619											
TMCC1	23023	broad.mit.edu	37	chr3	129389575	129389575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgagtgaggcaatctctCtgggctttgagactacagcg	10	10	13	8	1	2	3	0	3	2	1	3	5	2	3	0	2	2	2	0	2	3	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:129389575C>A	ENST00000393238.3	-	4	1449	c.1109G>T	c.(1108-1110)aGa>aTa	p.R370I	TMCC1_ENST00000329333.5_Missense_Mutation_p.R191I|TMCC1_ENST00000426664.2_Missense_Mutation_p.R256I|TMCC1_ENST00000432054.2_Missense_Mutation_p.R46I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	370						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGCAATCTCTCTGGGCTTTGA	0.527													17	51					4.7546e-09	6.12408e-09	1	0	A	129389575	C	A	129389575	3	1	192	1	0	0	0	0	1	0	0	0	16086	913	32	2	864	2	TMCC1	3	129389575	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	84752	129389575	68632855	110	33620											
EPHB1	2047	broad.mit.edu	37	chr3	134911580	134911580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccatcctaacatcattcGcctggagggtgtggtcacca	9	9	10	13	2	2	0	2	0	0	0	4	2	3	1	4	3	1	0	4	3	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:134911580G>T	ENST00000398015.3	+	11	2415	c.2045G>T	c.(2044-2046)cGc>cTc	p.R682L	EPHB1_ENST00000493838.1_Missense_Mutation_p.R243L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	682	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AACATCATTCGCCTGGAGGGT	0.537													21	38					7.92052e-27	1.23273e-26	1	0	T	134911580	G	T	134911580	3	4	192	1	0	0	0	0	1	0	0	0	5212	1087	38	3	2087	3	EPHB1	3	134911580	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	5522005	134911580	63110850	111	33621											
DBR1	51163	broad.mit.edu	37	chr3	137881194	137881194	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatattcaccacacacaTgatgttcttccttggacttc	9	15	4	13	0	3	1	2	1	1	0	5	2	4	2	2	1	0	1	2	1	1	7			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:137881194T>A	ENST00000260803.4	-	8	1325	c.1172A>T	c.(1171-1173)cAt>cTt	p.H391L	DBR1_ENST00000505015.2_Missense_Mutation_p.H157L	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	391						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACCACACACATGATGTTCTTC	0.408													15	36					0	0	0	0	A	137881194	T	A	137881194	3	1	192	1	0	0	0	0	1	0	0	0	4290	1464	51	5	466	5	DBR1	3	137881194	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	2969614	137881194	60141236	112	33622											
TRPC1	7220	broad.mit.edu	37	chr3	142523472	142523472	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacggcaaaacagtttaaaGgtaagaaattagaagcttga	20	8	9	4	1	0	3	0	1	0	2	0	3	0	3	0	2	3	4	0	2	9	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:142523472G>C	ENST00000273482.6	+	11	2443	c.2052_splice	c.e11+1	p.K684_splice	TRPC1_ENST00000476941.1_Splice_Site_p.K718_splice	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	718					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ACAGTTTAAAGGTAAGAAATT	0.373													12	35					0	0	0	0	C	142523472	G	C	142523472	5	2	192	1	0	0	0	0	0	0	1	0	16673	1014	35	4	2094	4	TRPC1	3	142523472	Splice_Site	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4642278	142523472	55498958	113	33623											
ZIC1	7545	broad.mit.edu	37	chr3	147131245	147131245	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctccacagacaacccGaccacaagctccttatcgcc	10	7	4	20	2	1	1	0	0	1	1	5	2	3	1	6	0	2	1	6	0	3	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:147131245G>T	ENST00000282928.4	+	3	1980	c.1251G>T	c.(1249-1251)ccG>ccT	p.P417P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	417	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CAGACAACCCGACCACAAGCT	0.592													17	98					2.5808e-16	3.72456e-16	1	0	T	147131245	G	T	147131245	2	4	192	1	0	0	0	0	0	0	0	1	17773	1045	37	3		3	ZIC1	3	147131245	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4607773	147131245	50891185	114	33624											
SI	6476	broad.mit.edu	37	chr3	164725726	164725726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ataaggtggataatttagttCgtcatttctgcattgattag	11	17	9	4	1	2	1	1	1	1	0	3	2	2	2	0	2	1	2	0	2	4	8	rs145734588	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:164725726C>G	ENST00000264382.3	-	36	4302	c.4240G>C	c.(4240-4242)Gaa>Caa	p.E1414Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1414	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.E1414K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAATTTAGTTCGTCATTTCTG	0.264										HNSCC(35;0.089)			23	48					0	0	0	0	G	164725726	C	G	164725726	3	3	192	1	0	0	0	0	1	0	0	0	14385	893	31	3	1295	3	SI	3	164725726	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	17594481	164725726	33296704	115	33625											
BCHE	590	broad.mit.edu	37	chr3	165548790	165548790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaccaaaagagaaatCtgatgcatatgattgtgact	19	9	8	5	0	1	5	0	3	1	2	1	6	1	5	1	0	2	1	1	0	6	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:165548790C>A	ENST00000264381.3	-	2	198	c.32G>T	c.(31-33)aGa>aTa	p.R11I	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	11					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AAAGAGAAATCTGATGCATAT	0.333													10	22					0.000673444	0.00075688	1	0	A	165548790	C	A	165548790	3	1	192	1	0	0	0	0	1	0	0	0	1362	913	32	2	1788	2	BCHE	3	165548790	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	823064	165548790	32473640	116	33626											
SKIL	6498	broad.mit.edu	37	chr3	170078601	170078601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcttgttttcaagttggagGagaaaagagactctgtttgc	10	15	11	5	0	3	2	1	0	2	2	3	5	3	3	0	2	1	3	0	2	3	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:170078601G>T	ENST00000458537.3	+	1	1191	c.482G>T	c.(481-483)gGa>gTa	p.G161V	SKIL_ENST00000413427.2_Missense_Mutation_p.G161V|SKIL_ENST00000259119.4_Missense_Mutation_p.G161V|SKIL_ENST00000426052.2_Missense_Mutation_p.G141V	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	161					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAAGTTGGAGGAGAAAAGAGA	0.418													32	98					5.60225e-13	7.76731e-13	1	0	T	170078601	G	T	170078601	3	4	192	1	0	0	0	0	1	0	0	0	14446	1174	41	2	484	2	SKIL	3	170078601	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4529811	170078601	27943829	117	33627											
TNIK	23043	broad.mit.edu	37	chr3	170945955	170945955	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaaaataaagacacttaccCctgtgacatccataaccttg	15	9	5	12	0	0	2	0	1	0	1	1	2	1	2	4	0	2	1	4	0	6	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:170945955C>A	ENST00000436636.2	-	3	523	c.180_splice	c.e3+1	p.G60_splice	TNIK_ENST00000475336.1_Splice_Site_p.G60_splice|TNIK_ENST00000470834.1_Splice_Site_p.G60_splice|TNIK_ENST00000460047.1_Splice_Site_p.G60_splice|TNIK_ENST00000538048.1_Splice_Site_p.G60_splice|TNIK_ENST00000488470.1_Splice_Site_p.G60_splice|TNIK_ENST00000357327.5_Splice_Site_p.G60_splice|TNIK_ENST00000369326.5_Splice_Site_p.G60_splice|TNIK_ENST00000284483.8_Splice_Site_p.G60_splice|TNIK_ENST00000341852.6_Splice_Site_p.G60_splice	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	60	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GACACTTACCCCTGTGACATC	0.398													15	51					4.7546e-09	6.12408e-09	1	0	A	170945955	C	A	170945955	5	1	192	1	0	0	0	0	0	0	1	0	16407	637	22	4	4027	4	TNIK	3	170945955	Splice_Site	SNP	C	TCGA-CR-7364-01A-11D-2012-08	867354	170945955	27076475	118	33628											
FGFRL1	53834	broad.mit.edu	37	chr4	1018993	1018993	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccggcagccccccagcActtactgggcccaggcccag	6	5	11	19	1	1	0	0	0	1	0	2	0	1	0	6	3	3	2	6	3	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:1018993A>T	ENST00000398484.2	+	8	1953	c.1373A>T	c.(1372-1374)cAc>cTc	p.H458L	FGFRL1_ENST00000504138.1_Missense_Mutation_p.H458L|FGFRL1_ENST00000264748.6_Missense_Mutation_p.H458L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.H458L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	458					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCCCCAGCACTTACTGGGC	0.622													6	19					0	0	0	0	T	1018993	A	T	1018993	3	4	192	1	0	0	0	0	1	0	0	0	5914	159	6	5	1395	5	FGFRL1	4	1018993	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08		1018993	190135283	119	33629											
LETM1	3954	broad.mit.edu	37	chr4	1827372	1827372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacacgctgcctgcagctcCttgacattcaggctgtccac	7	9	9	16	2	1	1	1	1	0	0	3	2	3	1	3	1	3	4	3	1	0	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:1827372C>A	ENST00000302787.2	-	7	1415	c.1119G>T	c.(1117-1119)aaG>aaT	p.K373N		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	373	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CCTGCAGCTCCTTGACATTCA	0.577													12	37					3.07112e-06	3.65198e-06	1	0	A	1827372	C	A	1827372	3	1	192	1	0	0	0	0	1	0	0	0	8787	680	24	4	1132	4	LETM1	4	1827372	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	808379	1827372	189326904	120	33630											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107640	6107640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggccgtgtgccgtcgctGctcctgctcgcgctccagct	2	10	13	16	5	0	0	0	0	0	0	4	0	2	0	4	1	4	6	4	1	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:6107640G>T	ENST00000409021.3	-	3	633	c.184C>A	c.(184-186)Cag>Aag	p.Q62K	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.Q62K|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.Q62K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	62	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCCGTCGCTGCTCCTGCTCG	0.672													20	35					5.26018e-13	7.309e-13	1	0	T	6107640	G	T	6107640	3	4	192	1	0	0	0	0	1	0	0	0	7993	1328	46	4	2462	4	JAKMIP1	4	6107640	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4280268	6107640	185046636	121	33631											
GPR78	27201	broad.mit.edu	37	chr4	8588894	8588894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtactctctgctccgccGgccgttccgccaagtcctgg	4	9	10	18	5	1	0	0	0	1	0	5	0	4	0	6	2	2	3	6	2	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:8588894G>T	ENST00000382487.4	+	3	1313	c.896G>T	c.(895-897)cGg>cTg	p.R299L	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	299					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CTGCTCCGCCGGCCGTTCCGC	0.662													20	64					7.41877e-09	9.51701e-09	1	0	T	8588894	G	T	8588894	3	4	192	1	0	0	0	0	1	0	0	0	6759	1116	39	3	906	3	GPR78	4	8588894	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2481254	8588894	182565382	122	33632											
SLIT2	9353	broad.mit.edu	37	chr4	20493400	20493400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtcaccagtcatttatGgctccttcttgtagtgtttt	6	19	8	8	0	3	0	2	0	1	0	4	0	4	0	2	2	0	3	2	2	3	8			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:20493400G>C	ENST00000504154.1	+	9	1044	c.792G>C	c.(790-792)atG>atC	p.M264I	SLIT2_ENST00000273739.5_Missense_Mutation_p.M268I|SLIT2_ENST00000503837.1_Missense_Mutation_p.M268I|SLIT2_ENST00000503823.1_Missense_Mutation_p.M264I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	264	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGTCATTTATGGCTCCTTCTT	0.403													29	108					0	0	0	0	C	20493400	G	C	20493400	3	2	192	1	0	0	0	0	1	0	0	0	14828	1348	47	4	826	4	SLIT2	4	20493400	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	11904506	20493400	170660876	123	33633											
TBC1D1	23216	broad.mit.edu	37	chr4	38047458	38047458	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtaataaagccagaggcctGcaggaacactccatcagtgt	13	7	11	10	0	1	1	1	0	0	1	2	2	2	2	3	3	3	2	3	3	4	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:38047458G>A	ENST00000261439.4	+	10	1918	c.1563G>A	c.(1561-1563)ctG>ctA	p.L521L	TBC1D1_ENST00000508802.1_Silent_p.L521L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	521						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCAGAGGCCTGCAGGAACACT	0.443													26	87					0	0	0	0	A	38047458	G	A	38047458	2	1	192	1	0	0	0	0	0	0	0	1	15688	1306	46	4		4	TBC1D1	4	38047458	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	17554058	38047458	153106818	124	33634											
KLB	152831	broad.mit.edu	37	chr4	39436011	39436011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtttgccaaccctatccatgGggatggcgactatccagagg	9	9	12	11	1	0	1	0	0	0	1	2	3	2	2	4	4	2	1	4	4	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:39436011G>T	ENST00000257408.4	+	2	1104	c.1007G>T	c.(1006-1008)gGg>gTg	p.G336V		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	336	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CCTATCCATGGGGATGGCGAC	0.468													23	69					1.50039e-11	2.02712e-11	1	0	T	39436011	G	T	39436011	3	4	192	1	0	0	0	0	1	0	0	0	8384	1232	43	4	1013	4	KLB	4	39436011	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1388553	39436011	151718265	125	33635											
COX7B2	170712	broad.mit.edu	37	chr4	46737052	46737052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtggctgtaaacacccatGtagcaacacagaaagcagtt	15	7	10	9	0	0	1	0	0	0	1	0	2	0	1	1	1	4	6	1	1	5	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:46737052G>A	ENST00000396533.1	-	4	408	c.158C>T	c.(157-159)aCa>aTa	p.T53I	COX7B2_ENST00000355591.3_Missense_Mutation_p.T53I|COX7B2_ENST00000543208.1_Missense_Mutation_p.T52I|COX7B2_ENST00000302930.5_Missense_Mutation_p.T53I			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	53						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						AAACACCCATGTAGCAACACA	0.433													22	61					0	0	0	0	A	46737052	G	A	46737052	3	1	192	1	0	0	0	0	1	0	0	0	3813	1377	48	4	91	4	COX7B2	4	46737052	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	7301041	46737052	144417224	126	33636											
GABRA4	2557	broad.mit.edu	37	chr4	46981101	46981101	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatatatgtcagttttcaCttctgtaacaggacctaacg	12	13	7	9	1	3	0	2	0	1	0	3	2	3	1	1	1	2	2	1	1	4	7			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:46981101C>A	ENST00000264318.3	-	3	1202	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	74					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCAGTTTTCACTTCTGTAACA	0.343													14	32					1.49906e-05	1.75304e-05	1	0	A	46981101	C	A	46981101	3	1	192	1	0	0	0	0	1	0	0	0	6211	565	20	4	1472	4	GABRA4	4	46981101	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	244049	46981101	144173175	127	33637											
NFXL1	152518	broad.mit.edu	37	chr4	47853907	47853907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatttccttgcacgttGtgtcacattctattgaaacc	8	16	6	11	1	3	1	2	1	1	0	4	1	4	1	2	0	2	3	2	0	2	7			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:47853907G>T	ENST00000507489.1	-	21	2650	c.2474C>A	c.(2473-2475)aCa>aAa	p.T825K	NFXL1_ENST00000381538.3_Missense_Mutation_p.T825K	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	825						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CTTGCACGTTGTGTCACATTC	0.353													18	72					1.15919e-05	1.3606e-05	1	0	T	47853907	G	T	47853907	3	4	192	1	0	0	0	0	1	0	0	0	10458	1377	48	4	273	4	NFXL1	4	47853907	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	872806	47853907	143300369	128	33638											
CNGA1	1259	broad.mit.edu	37	chr4	47939007	47939007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgcaaatataatctccagGactgtagacttggggttgca	11	12	10	8	0	1	1	0	0	1	1	2	2	1	2	1	3	2	4	1	3	4	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:47939007G>T	ENST00000402813.3	-	10	1853	c.1711C>A	c.(1711-1713)Cct>Act	p.P571T	CNGA1_ENST00000358519.4_Missense_Mutation_p.P502T|CNGA1_ENST00000514170.1_Missense_Mutation_p.P502T|CNGA1_ENST00000420489.2_Missense_Mutation_p.P502T|CNGA1_ENST00000544810.1_Missense_Mutation_p.P502T			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	502					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TAATCTCCAGGACTGTAGACT	0.438													19	106					5.03518e-11	6.74545e-11	1	0	T	47939007	G	T	47939007	3	4	192	1	0	0	0	0	1	0	0	0	3626	1174	41	2	572	2	CNGA1	4	47939007	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	85100	47939007	143215269	129	33639											
SGCB	6443	broad.mit.edu	37	chr4	52895089	52895089	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccttgctgaaaaacaatcTtcaaaaaaaacagtttattg	17	12	4	8	0	2	1	1	1	1	0	3	1	3	1	1	0	3	2	1	0	8	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:52895089T>A	ENST00000381431.5	-	4	652		c.e4-2		SGCB_ENST00000535450.1_Splice_Site	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)						cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAAAACAATCTTCAAAAAAAA	0.294													8	32					0	0	0	0	A	52895089	T	A	52895089	5	1	192	1	0	0	0	0	0	0	1	0	14287	1623	56	5	540	5	SGCB	4	52895089	Splice_Site	SNP	T	TCGA-CR-7364-01A-11D-2012-08	4956082	52895089	138259187	130	33640											
USP46	64854	broad.mit.edu	37	chr4	53494256	53494256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctgggccttgtatgcCaacacattctcccggaatgg	7	13	10	11	1	1	0	0	0	1	0	2	1	1	1	3	3	3	2	3	3	3	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:53494256C>A	ENST00000441222.2	-	3	376	c.192G>T	c.(190-192)ttG>ttT	p.L64F	USP46_ENST00000451218.2_Missense_Mutation_p.L37F|USP46_ENST00000508499.1_Missense_Mutation_p.L57F	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	64					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			CCTTGTATGCCAACACATTCT	0.517													14	31					6.72482e-11	8.95233e-11	1	0	A	53494256	C	A	53494256	3	1	192	1	0	0	0	0	1	0	0	0	17173	593	21	4	936	4	USP46	4	53494256	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	599167	53494256	137660020	131	33641											
SCFD2	152579	broad.mit.edu	37	chr4	54179841	54179841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggttttctctgcttgccGcttccactagatgtctccga	5	14	9	13	2	2	1	0	0	2	1	5	2	3	1	3	1	2	4	3	1	1	5	rs138747864		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:54179841G>T	ENST00000401642.3	-	3	1230	c.1097C>A	c.(1096-1098)gCg>gAg	p.A366E	SCFD2_ENST00000388940.4_Missense_Mutation_p.A366E	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	366					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCTGCTTGCCGCTTCCACTAG	0.468													15	31					7.93312e-07	9.57706e-07	1	0	T	54179841	G	T	54179841	3	4	192	1	0	0	0	0	1	0	0	0	13976	1087	38	3	985	3	SCFD2	4	54179841	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	685585	54179841	136974435	132	33642											
UGT2B17	7367	broad.mit.edu	37	chr4	69433907	69433907	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtattttttgaaatactaTatgtccatctatcgaacatt	13	18	4	6	1	1	1	0	1	1	0	3	2	2	1	1	0	2	1	1	0	7	9			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:69433907T>A	ENST00000317746.2	-	1	338	c.296A>T	c.(295-297)tAt>tTt	p.Y99F		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	99					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TGAAATACTATATGTCCATCT	0.274													27	26					0	0	0	0	A	69433907	T	A	69433907	3	1	192	1	0	0	0	0	1	0	0	0	17055	1406	49	5	1320	5	UGT2B17	4	69433907	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	15254066	69433907	121720369	133	33643											
UGT2A1	10941	broad.mit.edu	37	chr4	70513300	70513300	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attggccaaatcaaaacattCccaccaagagtggttcctat	14	10	6	11	0	1	1	1	0	0	1	3	1	3	1	4	2	1	1	4	2	5	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:70513300C>T	ENST00000503640.1	-	1	118	c.63G>A	c.(61-63)ggG>ggA	p.G21G	UGT2A1_ENST00000512704.1_Silent_p.G21G|UGT2A1_ENST00000286604.4_Silent_p.G21G|UGT2A1_ENST00000514019.1_Silent_p.G21G	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	21					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCAAAACATTCCCACCAAGAG	0.388													11	25					0	0	0	0	T	70513300	C	T	70513300	2	4	192	1	0	0	0	0	0	0	0	1	17049	842	30	2		2	UGT2A1	4	70513300	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1079393	70513300	120640976	134	33644											
PPBP	5473	broad.mit.edu	37	chr4	74853045	74853045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacaattttcttgattctggGagcatctgggtccaggcaga	9	13	11	8	0	3	2	0	1	3	1	4	3	4	3	1	3	2	2	1	3	2	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:74853045G>A	ENST00000296028.3	-	3	424	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	111					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	p.P111T(1)		breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTGATTCTGGGAGCATCTGGG	0.428													22	65					0	0	0	0	A	74853045	G	A	74853045	3	1	192	1	0	0	0	0	1	0	0	0	12374	1174	41	2	59	2	PPBP	4	74853045	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4339745	74853045	116301231	135	33645											
CNOT6L	246175	broad.mit.edu	37	chr4	78650155	78650155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtctggatgagcttcacatCagaatactctgggtcccaat	10	11	10	10	0	4	2	2	1	2	1	5	3	5	3	1	3	2	1	1	3	3	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:78650155C>T	ENST00000504123.1	-	10	1235	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N	CNOT6L_ENST00000264903.4_Missense_Mutation_p.D369N			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	369					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						AGCTTCACATCAGAATACTCT	0.428													40	95					0	0	0	0	T	78650155	C	T	78650155	3	4	192	1	0	0	0	0	1	0	0	0	3653	826	29	2	574	2	CNOT6L	4	78650155	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	3797110	78650155	112504121	136	33646											
ARHGAP24	83478	broad.mit.edu	37	chr4	86915782	86915782	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgatgattagcaaacaTgattgcctctttcccaaaga	13	12	7	9	0	2	4	1	3	1	1	3	4	3	4	2	0	3	1	2	0	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:86915782T>C	ENST00000395184.1	+	9	1441	c.975T>C	c.(973-975)caT>caC	p.H325H	ARHGAP24_ENST00000395183.2_Silent_p.H230H|ARHGAP24_ENST00000264343.4_Silent_p.H232H	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	325	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTAGCAAACATGATTGCCTCT	0.418													46	125					0	0	0	0	C	86915782	T	C	86915782	2	2	192	1	0	0	0	0	0	0	0	1	875	1461	51	5		5	ARHGAP24	4	86915782	Silent	SNP	T	TCGA-CR-7364-01A-11D-2012-08	8265627	86915782	104238494	137	33647											
EGF	1950	broad.mit.edu	37	chr4	110902034	110902034	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgaacatatttgcaaaaaGaggcttggaactgcttggtg	12	12	12	5	0	0	2	0	1	0	1	0	3	0	3	0	3	4	3	0	3	5	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:110902034G>A	ENST00000265171.5	+	15	2719	c.2274G>A	c.(2272-2274)aaG>aaA	p.K758K	EGF_ENST00000503392.1_Silent_p.K758K|EGF_ENST00000509793.1_Silent_p.K716K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	758	EGF-like 5.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTTGCAAAAAGAGGCTTGGAA	0.438													22	90					0	0	0	0	A	110902034	G	A	110902034	2	1	192	1	0	0	0	0	0	0	0	1	4998	933	33	2		2	EGF	4	110902034	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	23986252	110902034	80252242	138	33648											
MAML3	55534	broad.mit.edu	37	chr4	140640738	140640738	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcatgcctgggactccctgGctcaggccagacatgaccat	8	7	12	14	0	1	2	1	1	0	1	2	3	2	3	4	4	1	2	4	4	0	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:140640738G>A	ENST00000509479.2	-	5	4012	c.3156C>T	c.(3154-3156)agC>agT	p.S1052S	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	1048					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGACTCCCTGGCTCAGGCCAG	0.647													5	31					0	0	0	0	A	140640738	G	A	140640738	2	1	192	1	0	0	0	0	0	0	0	1	9276	1194	42	4		4	MAML3	4	140640738	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	29738704	140640738	50513538	139	33649											
RNF150	57484	broad.mit.edu	37	chr4	141868813	141868813	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctagtgactcaccggcaGggcaggatccggacaacgtc	10	5	13	13	3	1	1	1	1	0	0	3	3	2	3	3	4	2	2	3	4	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:141868813G>T	ENST00000306799.3	-	4	1412	c.759C>A	c.(757-759)ccC>ccA	p.P253P	RNF150_ENST00000515673.1_Silent_p.P295P|RNF150_ENST00000420921.2_Silent_p.P154P|RNF150_ENST00000379512.2_Silent_p.P154P|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000507500.1_Silent_p.P295P	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	295						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CTCACCGGCAGGGCAGGATCC	0.562													18	69					3.8784e-16	5.55934e-16	1	0	T	141868813	G	T	141868813	2	4	192	1	0	0	0	0	0	0	0	1	13536	987	35	4		4	RNF150	4	141868813	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1228075	141868813	49285463	140	33650											
INPP4B	8821	broad.mit.edu	37	chr4	143130163	143130163	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaaagctcaccaagttCttttatctcctggtttctgt	8	16	8	9	0	4	1	1	0	3	1	5	2	4	1	2	2	1	3	2	2	3	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:143130163C>A	ENST00000513000.1	-	14	1286	c.853G>T	c.(853-855)Gaa>Taa	p.E285*	INPP4B_ENST00000509777.1_Nonsense_Mutation_p.E285*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.E285*|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.E285*|INPP4B_ENST00000508116.1_Nonsense_Mutation_p.E285*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	285					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCACCAAGTTCTTTTATCTCC	0.363													10	42					2.27111e-07	2.8003e-07	1	0	A	143130163	C	A	143130163	4	1	192	1	0	0	0	0	0	1	0	0	7806	922	32	2	1977	2	INPP4B	4	143130163	Nonsense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1261350	143130163	48024113	141	33651											
KIAA0922	23240	broad.mit.edu	37	chr4	154556600	154556600	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaaaacatgaactatgcCaatggcttcccctgtcctgc	11	10	8	12	0	0	2	0	1	0	1	2	2	2	2	4	1	4	2	4	1	6	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:154556600C>T	ENST00000409663.3	+	34	4483	c.4431C>T	c.(4429-4431)gcC>gcT	p.A1477A	KIAA0922_ENST00000409959.3_Silent_p.A1478A|KIAA0922_ENST00000440693.1_Silent_p.A1394A	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1477						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGAACTATGCCAATGGCTTCC	0.438													21	67					0	0	0	0	T	154556600	C	T	154556600	2	4	192	1	0	0	0	0	0	0	0	1	8252	581	21	4		4	KIAA0922	4	154556600	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	11426437	154556600	36597676	142	33652											
DCHS2	54798	broad.mit.edu	37	chr4	155256021	155256021	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataagaaataagtacttactCaagggctctcttgctttcac	13	13	6	9	0	3	1	2	0	1	1	4	1	3	1	0	1	3	3	0	1	6	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:155256021C>G	ENST00000357232.3	-	8	1214	c.1216_splice	c.e8+1	p.L405_splice	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Splice_Site_p.L904_splice	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	405	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGTACTTACTCAAGGGCTCTC	0.373													23	63					0	0	0	0	G	155256021	C	G	155256021	5	3	192	1	0	0	0	0	0	0	1	0	4320	840	29	2	7703	2	DCHS2	4	155256021	Splice_Site	SNP	C	TCGA-CR-7364-01A-11D-2012-08	699421	155256021	35898255	143	33653											
NAF1	92345	broad.mit.edu	37	chr4	164087774	164087774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggctgtgtccctggcacagGggcagagcccggagacggag	7	4	18	12	3	0	2	0	0	0	2	1	4	1	3	2	6	1	3	2	6	0	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:164087774G>A	ENST00000274054.2	-	1	299	c.106C>T	c.(106-108)Cct>Tct	p.P36S	NAF1_ENST00000422287.2_Missense_Mutation_p.P36S	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	36					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CCTGGCACAGGGGCAGAGCCC	0.667													8	18					0	0	0	0	A	164087774	G	A	164087774	3	1	192	1	0	0	0	0	1	0	0	0	10210	1232	43	4	1551	4	NAF1	4	164087774	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	8831753	164087774	27066502	144	33654											
ADAM29	11086	broad.mit.edu	37	chr4	175896769	175896769	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaatatcacagccctccGgatgtggtgattcctgtgag	8	10	10	13	1	1	2	1	2	0	0	3	3	3	3	5	2	1	0	5	2	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:175896769G>T	ENST00000359240.3	+	5	763	c.93G>T	c.(91-93)ccG>ccT	p.P31P	ADAM29_ENST00000514159.1_Silent_p.P31P|ADAM29_ENST00000404450.4_Silent_p.P31P|ADAM29_ENST00000445694.1_Silent_p.P31P	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	31			P -> L (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACAGCCCTCCGGATGTGGTGA	0.517													25	54					4.4004e-07	5.39432e-07	1	0	T	175896769	G	T	175896769	2	4	192	1	0	0	0	0	0	0	0	1	247	1103	39	3		3	ADAM29	4	175896769	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	11808995	175896769	15257507	145	33655											
WDR17	116966	broad.mit.edu	37	chr4	177056354	177056354	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcactataaaagtctgggaTataaacacattaacagcagt	17	9	8	7	0	1	0	0	0	1	0	1	1	1	1	0	2	3	2	0	2	7	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:177056354T>C	ENST00000393643.2	+	8	1446	c.1194T>C	c.(1192-1194)gaT>gaC	p.D398D	WDR17_ENST00000280190.4_Silent_p.D422D|WDR17_ENST00000507824.2_Silent_p.D405D|WDR17_ENST00000508596.1_Silent_p.D398D	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	422										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AAGTCTGGGATATAAACACAT	0.383													19	37					0	0	0	0	C	177056354	T	C	177056354	2	2	192	1	0	0	0	0	0	0	0	1	17373	1403	49	5		5	WDR17	4	177056354	Silent	SNP	T	TCGA-CR-7364-01A-11D-2012-08	1159585	177056354	14097922	146	33656											
WDR17	116966	broad.mit.edu	37	chr4	177084375	177084375	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggcacagtactaggagAgtctgcagcaccagcaaccc	11	6	12	12	0	1	1	0	0	1	1	1	2	1	1	2	2	5	5	2	2	3	2	rs141454308	by1000genomes	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:177084375A>T	ENST00000393643.2	+	22	3173	c.2921A>T	c.(2920-2922)gAg>gTg	p.E974V	WDR17_ENST00000280190.4_Missense_Mutation_p.E998V|WDR17_ENST00000507824.2_Missense_Mutation_p.E981V|WDR17_ENST00000508596.1_Missense_Mutation_p.E974V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	998										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTACTAGGAGAGTCTGCAGCA	0.408													24	49					0	0	0	0	T	177084375	A	T	177084375	3	4	192	1	0	0	0	0	1	0	0	0	17373	304	11	5	3079	5	WDR17	4	177084375	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	28021	177084375	14069901	147	33657											
SLC12A7	10723	broad.mit.edu	37	chr5	1076277	1076277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaacttgaagcgtggaCgccagttgggggtacgtagc	9	8	17	7	3	0	2	0	1	0	1	0	3	0	3	1	4	4	4	1	4	5	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:1076277C>A	ENST00000264930.5	-	14	1866	c.1823G>T	c.(1822-1824)cGt>cTt	p.R608L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	608					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GAAGCGTGGACGCCAGTTGGG	0.642													8	14					0.000673444	0.00075688	1	0	A	1076277	C	A	1076277	3	1	192	1	0	0	0	0	1	0	0	0	14476	536	19	3	1472	3	SLC12A7	5	1076277	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08		1076277	179838983	148	33658											
ADAMTS16	170690	broad.mit.edu	37	chr5	5146522	5146522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctatcaaggctctttgcGatcacacagaaactcctcag	11	12	6	12	1	5	1	3	0	2	1	6	2	6	1	1	1	2	1	1	1	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:5146522G>T	ENST00000274181.7	+	3	593	c.455G>T	c.(454-456)cGa>cTa	p.R152L	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R152L	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	152					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCTCTTTGCGATCACACAGA	0.537													38	102					1.58521e-26	2.45514e-26	1	0	T	5146522	G	T	5146522	3	4	192	1	0	0	0	0	1	0	0	0	261	1058	37	3	465	3	ADAMTS16	5	5146522	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4070245	5146522	175768738	149	33659											
ADAMTS16	170690	broad.mit.edu	37	chr5	5306737	5306737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatttgccgaagcccagcCtggagctggaacgtgcctgc	8	7	12	14	2	0	0	0	0	0	0	0	3	0	2	4	2	7	1	4	2	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:5306737C>A	ENST00000274181.7	+	21	3445	c.3307C>A	c.(3307-3309)Ctg>Atg	p.L1103M		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1103	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAAGCCCAGCCTGGAGCTGGA	0.562													15	47					1.52009e-12	2.08479e-12	1	0	A	5306737	C	A	5306737	3	1	192	1	0	0	0	0	1	0	0	0	261	680	24	4	3389	4	ADAMTS16	5	5306737	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	160215	5306737	175608523	150	33660											
ADCY2	108	broad.mit.edu	37	chr5	7521006	7521006	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcaaggagcacctggtCtggcaggtgggtgcacctcc	7	6	17	11	0	1	0	0	0	1	0	2	2	2	2	3	7	2	4	3	7	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:7521006C>A	ENST00000338316.4	+	3	653	c.564C>A	c.(562-564)gtC>gtA	p.V188V		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	188				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCACCTGGTCTGGCAGGTGG	0.607													18	64					8.34094e-07	1.00503e-06	1	0	A	7521006	C	A	7521006	2	1	192	1	0	0	0	0	0	0	0	1	294	900	32	2		2	ADCY2	5	7521006	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	2214269	7521006	173394254	151	33661											
SEMA5A	9037	broad.mit.edu	37	chr5	9119147	9119147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacgcacacccggccccCgtgcctgggagtggggttgc	4	6	14	17	3	0	0	0	0	0	0	1	1	1	1	5	4	2	2	5	4	0	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:9119147C>A	ENST00000382496.5	-	15	2553	c.1888G>T	c.(1888-1890)Ggg>Tgg	p.G630W		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	630	TSP type-1 2.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACCCGGCCCCCGTGCCTGGGA	0.677													20	39					3.51602e-12	4.78088e-12	1	0	A	9119147	C	A	9119147	3	1	192	1	0	0	0	0	1	0	0	0	14124	652	23	3	1372	3	SEMA5A	5	9119147	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1598141	9119147	171796113	152	33662											
SEMA5A	9037	broad.mit.edu	37	chr5	9337825	9337825	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatacaatatctctcacCttgctcctacaacaagttct	14	12	2	13	0	3	0	1	0	2	0	5	0	4	0	2	0	4	2	2	0	8	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:9337825C>A	ENST00000382496.5	-	4	889	c.224_splice	c.e4+1	p.R75_splice		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	75	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TATCTCTCACCTTGCTCCTAC	0.423													8	35					0.000274275	0.000311008	1	0	A	9337825	C	A	9337825	5	1	192	1	0	0	0	0	0	0	1	0	14124	695	24	4	3080	4	SEMA5A	5	9337825	Splice_Site	SNP	C	TCGA-CR-7364-01A-11D-2012-08	218678	9337825	171577435	153	33663											
DNAH5	1767	broad.mit.edu	37	chr5	13758967	13758967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttacctgcttttcagtCatggcctgttcatactcagc	7	14	8	12	0	4	0	4	0	0	0	4	0	4	0	2	1	4	4	2	1	2	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:13758967C>A	ENST00000265104.4	-	61	10511	c.10407G>T	c.(10405-10407)atG>atT	p.M3469I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3469	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTTTTCAGTCATGGCCTGTT	0.532									Kartagener syndrome				57	133					4.88482e-21	7.36785e-21	1	0	A	13758967	C	A	13758967	3	1	192	1	0	0	0	0	1	0	0	0	4641	826	29	2	3543	2	DNAH5	5	13758967	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	4421142	13758967	167156293	154	33664											
DNAH5	1767	broad.mit.edu	37	chr5	13786380	13786380	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctgcaggaacatattcaGacgctcttttaggtgactaa	12	11	10	8	1	2	2	1	1	1	1	2	4	2	3	0	2	3	3	0	2	4	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:13786380G>A	ENST00000265104.4	-	52	8832	c.8728C>T	c.(8728-8730)Ctg>Ttg	p.L2910L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2910					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACATATTCAGACGCTCTTTT	0.428									Kartagener syndrome				14	48					0	0	0	0	A	13786380	G	A	13786380	2	1	192	1	0	0	0	0	0	0	0	1	4641	933	33	2		2	DNAH5	5	13786380	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	27413	13786380	167128880	155	33665											
CAPSL	133690	broad.mit.edu	37	chr5	35910057	35910057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttccccattctggtactttgGgtggtgttttgcattatata	6	19	9	7	0	1	0	0	0	1	0	2	0	2	0	2	3	2	3	2	3	4	9			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:35910057G>A	ENST00000397367.2	-	4	562	c.436C>T	c.(436-438)Cca>Tca	p.P146S	CAPSL_ENST00000397366.1_Missense_Mutation_p.P146S|CAPSL_ENST00000514524.1_Missense_Mutation_p.P146S	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	146	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TGGTACTTTGGGTGGTGTTTT	0.368													28	87					0	0	0	0	A	35910057	G	A	35910057	3	1	192	1	0	0	0	0	1	0	0	0	2664	1232	43	4	198	4	CAPSL	5	35910057	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	22123677	35910057	145005203	156	33666											
UGT3A1	133688	broad.mit.edu	37	chr5	35965526	35965526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttttccatcaagcctcCaatataaacagtgttgggaa	13	12	8	8	0	1	0	1	0	0	0	3	1	3	1	3	2	2	2	3	2	6	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:35965526C>T	ENST00000274278.3	-	4	1162	c.805G>A	c.(805-807)Gga>Aga	p.G269R	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G235R|UGT3A1_ENST00000333811.4_Missense_Mutation_p.G215R|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G269R	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	269						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)			ATCAAGCCTCCAATATAAACA	0.428													16	62					0	0	0	0	T	35965526	C	T	35965526	3	4	192	1	0	0	0	0	1	0	0	0	17059	603	21	4	864	4	UGT3A1	5	35965526	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	55469	35965526	144949734	157	33667											
HCN1	348980	broad.mit.edu	37	chr5	45303729	45303729	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagagccatctgtcagcttCatttctttactggattttgt	8	18	7	8	0	4	1	2	0	2	1	4	2	4	2	1	1	3	1	1	1	2	7			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:45303729C>G	ENST00000303230.4	-	6	1647	c.1590G>C	c.(1588-1590)atG>atC	p.M530I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	530						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGTCAGCTTCATTTCTTTAC	0.353													16	66					0	0	0	0	G	45303729	C	G	45303729	3	3	192	1	0	0	0	0	1	0	0	0	7046	826	29	2	1094	2	HCN1	5	45303729	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	9338203	45303729	135611531	158	33668											
HSPB3	8988	broad.mit.edu	37	chr5	53751686	53751686	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaggaagagtttgaagctCgaggtctagaagactgcagg	13	7	14	7	1	1	4	0	1	1	3	2	6	1	5	1	3	2	3	1	3	4	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:53751686C>T	ENST00000302005.1	+	1	242	c.67C>T	c.(67-69)Cga>Tga	p.R23*		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	23					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				GTTTGAAGCTCGAGGTCTAGA	0.502													31	49					0	0	0	0	T	53751686	C	T	53751686	4	4	192	1	0	0	0	0	0	1	0	0	7473	876	31	1	69	1	HSPB3	5	53751686	Nonsense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	8447957	53751686	127163574	159	33669											
FBN2	2201	broad.mit.edu	37	chr5	127782271	127782271	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtttcctccttggcatatCcctgggatagcctggcattc	6	13	9	13	0	0	0	0	0	0	0	4	1	3	1	4	3	1	3	4	3	2	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:127782271C>A	ENST00000508053.1	-	13	1829	c.855G>T	c.(853-855)ggG>ggT	p.G285G	FBN2_ENST00000262464.4_Silent_p.G285G|FBN2_ENST00000508989.1_Silent_p.G252G			P35556	FBN2_HUMAN	fibrillin 2	285	EGF-like 4; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTGGCATATCCCTGGGATAG	0.393													20	25					6.44725e-10	8.49379e-10	1	0	A	127782271	C	A	127782271	2	1	192	1	0	0	0	0	0	0	0	1	5748	842	30	2		2	FBN2	5	127782271	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	74030585	127782271	53132989	160	33670											
CSF2	1437	broad.mit.edu	37	chr5	131409633	131409633	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaatgccatccaggaggcCcggcgtctcctgaacctgag	8	7	13	13	2	1	3	0	3	1	0	3	4	2	4	5	3	2	0	5	3	2	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:131409633C>A	ENST00000296871.2	+	1	151	c.117C>A	c.(115-117)gcC>gcA	p.A39A		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	39					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	TCCAGGAGGCCCGGCGTCTCC	0.647													21	45					4.96729e-08	6.23365e-08	1	0	A	131409633	C	A	131409633	2	1	192	1	0	0	0	0	0	0	0	1	3965	610	22	4		4	CSF2	5	131409633	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	3627362	131409633	49505627	161	33671											
CATSPER3	347732	broad.mit.edu	37	chr5	134345142	134345142	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagcaggtgattctgcagCggcagcaggaggagatcagc	12	5	16	8	1	2	3	1	1	1	2	2	5	2	4	0	4	5	4	0	4	1	1	rs142712287		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:134345142C>A	ENST00000282611.6	+	6	984	c.898C>A	c.(898-900)Cgg>Agg	p.R300R		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	300					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATTCTGCAGCGGCAGCAGGA	0.562													31	60					2.14196e-07	2.64619e-07	1	0	A	134345142	C	A	134345142	2	1	192	1	0	0	0	0	0	0	0	1	2714	759	27	3		3	CATSPER3	5	134345142	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	2935509	134345142	46570118	162	33672											
PCDHA6	56142	broad.mit.edu	37	chr5	140209910	140209910	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgtgctccagcgcagTggggagctggtcgtactcgc	4	9	17	11	3	0	0	0	0	0	0	3	1	1	1	1	4	4	5	1	4	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:140209910T>A	ENST00000529310.1	+	1	2348	c.2234T>A	c.(2233-2235)gTg>gAg	p.V745E	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGCGCAGTGGGGAGCTGG	0.677													17	32					0	0	0	0	A	140209910	T	A	140209910	3	1	192	1	0	0	0	0	1	0	0	0	11599	1696	59	5	2236	5	PCDHA6	5	140209910	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	5864768	140209910	40705350	163	33673											
SLC6A7	6534	broad.mit.edu	37	chr5	149576820	149576820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctcacctgcaccgtcagcCccagcgaggagtactggagg	9	5	12	15	2	2	0	2	0	0	0	2	3	2	2	5	3	4	2	5	3	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:149576820C>A	ENST00000230671.2	+	4	936	c.565C>A	c.(565-567)Ccc>Acc	p.P189T	SLC6A7_ENST00000524041.1_Missense_Mutation_p.P189T	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	189						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CACCGTCAGCCCCAGCGAGGA	0.657													13	27					0.00136819	0.00152422	1	0	A	149576820	C	A	149576820	3	1	192	1	0	0	0	0	1	0	0	0	14777	623	22	4	579	4	SLC6A7	5	149576820	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	9366910	149576820	31338440	164	33674											
SLC36A2	153201	broad.mit.edu	37	chr5	150696552	150696552	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtagaacgtggtgacctcCaggagcggtgggatgatgag	10	7	18	6	2	0	4	0	3	0	1	1	7	1	6	2	4	2	1	2	4	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:150696552C>T	ENST00000335244.4	-	10	1407	c.1278G>A	c.(1276-1278)ctG>ctA	p.L426L	SLC36A2_ENST00000450886.1_Silent_p.L150L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	426					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTGACCTCCAGGAGCGGTG	0.647													9	17					0	0	0	0	T	150696552	C	T	150696552	2	4	192	1	0	0	0	0	0	0	0	1	14682	581	21	4		4	SLC36A2	5	150696552	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1119732	150696552	30218708	165	33675											
NSD1	64324	broad.mit.edu	37	chr5	176709508	176709508	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgagcttatagatgaaGaagaatgcagagctcgaatt	14	10	13	4	1	0	6	0	2	0	4	1	7	0	6	0	1	3	3	0	1	6	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:176709508G>T	ENST00000439151.2	+	19	5980	c.5935G>T	c.(5935-5937)Gaa>Taa	p.E1979*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1876*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1710*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1710*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1979	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TATAGATGAAGAAGAATGCAG	0.378			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			33	65					5.91797e-21	8.905e-21	1	0	T	176709508	G	T	176709508	4	4	192	1	0	0	0	0	0	1	0	0	10740	943	33	2	6005	2	NSD1	5	176709508	Nonsense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	26012956	176709508	4205752	166	33676											
NRN1	51299	broad.mit.edu	37	chr6	5999396	5999396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgccccttcctggcaatccGtaagggctgtgaccgtgcag	6	9	12	14	3	0	1	0	1	0	0	3	1	2	1	5	2	1	4	5	2	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:5999396G>T	ENST00000244766.2	-	3	459	c.242C>A	c.(241-243)aCg>aAg	p.T81K	NRN1_ENST00000495850.1_5'UTR	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	81						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CTGGCAATCCGTAAGGGCTGT	0.517													12	57					7.93312e-07	9.57706e-07	1	0	T	5999396	G	T	5999396	3	4	192	1	0	0	0	0	1	0	0	0	10729	1145	40	3	190	3	NRN1	6	5999396	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08		5999396	165115671	167	33677											
PHACTR1	221692	broad.mit.edu	37	chr6	13053694	13053694	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagtaagtttgccaacctGggaaggattttcaagccttg	12	11	11	7	0	1	1	1	0	0	1	1	3	1	3	3	2	3	2	3	2	5	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:13053694G>A	ENST00000379350.1	+	4	477	c.348G>A	c.(346-348)ctG>ctA	p.L116L	PHACTR1_ENST00000379345.2_5'UTR|PHACTR1_ENST00000457702.2_5'UTR|PHACTR1_ENST00000332995.7_Silent_p.L116L|PHACTR1_ENST00000482982.1_3'UTR			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	116						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TTGCCAACCTGGGAAGGATTT	0.507													8	25					0	0	0	0	A	13053694	G	A	13053694	2	1	192	1	0	0	0	0	0	0	0	1	11881	1335	47	4		4	PHACTR1	6	13053694	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	7054298	13053694	158061373	168	33678											
JARID2	3720	broad.mit.edu	37	chr6	15497018	15497018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggcaaggcggacagcgcctCctgtgaaaatcgttctacct	9	9	11	12	3	1	1	0	1	1	0	3	2	2	2	3	3	2	2	3	3	4	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:15497018C>G	ENST00000341776.2	+	7	1806	c.1562C>G	c.(1561-1563)tCc>tGc	p.S521C	JARID2_ENST00000541660.1_Missense_Mutation_p.S483C|JARID2_ENST00000397311.3_Missense_Mutation_p.S349C	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	521					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GACAGCGCCTCCTGTGAAAAT	0.677													13	41					0	0	0	0	G	15497018	C	G	15497018	3	3	192	1	0	0	0	0	1	0	0	0	7998	855	30	2	1588	2	JARID2	6	15497018	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	2443324	15497018	155618049	169	33679											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045742	26045742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcgctccggccaccggtgGcgtgaagaaacctcatcgct	8	6	13	14	5	1	2	1	1	0	1	3	3	2	2	4	3	2	2	4	3	2	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:26045742G>T	ENST00000540144.1	+	1	104	c.104G>T	c.(103-105)gGc>gTc	p.G35V		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	35					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GCCACCGGTGGCGTGAAGAAA	0.627													15	66					0.000219431	0.00025061	1	0	T	26045742	G	T	26045742	3	4	192	1	0	0	0	0	1	0	0	0	7207	1203	42	4	106	4	HIST1H3C	6	26045742	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	10548724	26045742	145069325	170	33680											
HIST1H3C	8352	broad.mit.edu	37	chr6	26046019	26046019	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcccaaagatatccagctGgcacgtcgcatccgtgggga	10	7	12	12	3	0	1	0	0	0	1	3	2	2	2	3	3	2	3	3	3	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:26046019G>T	ENST00000540144.1	+	1	381	c.381G>T	c.(379-381)ctG>ctT	p.L127L		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	127					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						ATATCCAGCTGGCACGTCGCA	0.502													22	47					1.22574e-08	1.56294e-08	1	0	T	26046019	G	T	26046019	2	4	192	1	0	0	0	0	0	0	0	1	7207	1335	47	4		4	HIST1H3C	6	26046019	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	277	26046019	145069048	171	33681											
HIST1H4K	8362	broad.mit.edu	37	chr6	27799255	27799255	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtactttacggtggcgCttagcgccgcctttgccaag	6	10	12	13	5	0	0	0	0	0	0	0	0	0	0	3	2	4	3	3	2	4	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:27799255C>A	ENST00000357549.2	-	1	50	c.51G>T	c.(49-51)aaG>aaT	p.K17N		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	17					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						TACGGTGGCGCTTAGCGCCGC	0.642													11	107					6.44725e-10	8.49379e-10	1	0	A	27799255	C	A	27799255	3	1	192	1	0	0	0	0	1	0	0	0	7225	796	28	4	264	4	HIST1H4K	6	27799255	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1753236	27799255	143315812	172	33682											
COL11A2	1302	broad.mit.edu	37	chr6	33133582	33133582	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtggctggatcacctcGcctgggggaccctgggtgca	5	7	17	12	1	1	0	1	0	0	0	2	2	1	2	3	6	1	3	3	6	0	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:33133582G>T	ENST00000341947.2	-	63	4721	c.4494C>A	c.(4492-4494)ggC>ggA	p.G1498G	COL11A2_ENST00000357486.1_Silent_p.G1477G|COL11A2_ENST00000361917.1_Silent_p.G1391G|COL11A2_ENST00000395197.1_Silent_p.G1438G|COL11A2_ENST00000374708.4_Silent_p.G1412G|COL11A2_ENST00000374714.1_Silent_p.G1472G|COL11A2_ENST00000374713.1_Silent_p.G1451G|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Silent_p.G1417G	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1498	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						GGATCACCTCGCCTGGGGGAC	0.627													17	69					6.94344e-10	9.0909e-10	1	0	T	33133582	G	T	33133582	2	4	192	1	0	0	0	0	0	0	0	1	3698	1074	38	3		3	COL11A2	6	33133582	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	5334327	33133582	137981485	173	33683											
DNAH8	1769	broad.mit.edu	37	chr6	38867649	38867649	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagattggcctcttttattgCtggctatcaaatattccaga	11	15	7	8	0	2	2	1	0	1	2	3	2	3	2	2	2	1	2	2	2	5	7			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:38867649C>A	ENST00000359357.3	+	60	8764	c.8510C>A	c.(8509-8511)gCt>gAt	p.A2837D	DNAH8_ENST00000449981.2_Missense_Mutation_p.A3054D|DNAH8_ENST00000441566.1_Missense_Mutation_p.A2801D					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTTTATTGCTGGCTATCAA	0.343													4	18					2.56e-06	3.05564e-06	1	0	A	38867649	C	A	38867649	3	1	192	1	0	0	0	0	1	0	0	0	4643	797	28	4	8740	4	DNAH8	6	38867649	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	5734067	38867649	132247418	174	33684											
LRFN2	57497	broad.mit.edu	37	chr6	40400710	40400710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccgccggtcaatatcaGggggtacaaagagcagcccc	10	6	12	13	2	2	1	2	0	0	1	3	1	3	1	4	3	3	2	4	3	4	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:40400710G>A	ENST00000338305.6	-	2	685	c.143C>T	c.(142-144)cCt>cTt	p.P48L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	48	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTCAATATCAGGGGGTACAAA	0.612													17	54					0	0	0	0	A	40400710	G	A	40400710	3	1	192	1	0	0	0	0	1	0	0	0	9002	1000	35	4	2234	4	LRFN2	6	40400710	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1533061	40400710	130714357	175	33685											
ENPP5	59084	broad.mit.edu	37	chr6	46135435	46135435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccatgtcatcagggtCttcccaatagagaagaccaa	12	8	10	11	0	3	2	2	0	1	2	4	3	4	2	3	2	0	0	3	2	4	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:46135435C>A	ENST00000371383.2	-	3	825	c.565G>T	c.(565-567)Gac>Tac	p.D189Y	ENPP5_ENST00000230565.3_Missense_Mutation_p.D189Y			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	189						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TCATCAGGGTCTTCCCAATAG	0.418													27	61					3.6726e-16	5.27625e-16	1	0	A	46135435	C	A	46135435	3	1	192	1	0	0	0	0	1	0	0	0	5171	913	32	2	880	2	ENPP5	6	46135435	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	5734725	46135435	124979632	176	33686											
RCAN2	10231	broad.mit.edu	37	chr6	46214500	46214500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttacctggtcctagtttggCcacagcatagaggaggtcat	9	11	11	10	0	1	1	1	0	0	1	2	2	2	2	3	4	2	2	3	4	3	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:46214500C>T	ENST00000371374.1	-	4	747	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	RCAN2_ENST00000330430.6_Missense_Mutation_p.A140T|RCAN2_ENST00000405162.1_Missense_Mutation_p.A186T|RCAN2_ENST00000306764.7_Missense_Mutation_p.A186T	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	140					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CCTAGTTTGGCCACAGCATAG	0.493													8	31					0	0	0	0	T	46214500	C	T	46214500	3	4	192	1	0	0	0	0	1	0	0	0	13251	739	26	4	183	4	RCAN2	6	46214500	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	79065	46214500	124900567	177	33687											
GPR111	222611	broad.mit.edu	37	chr6	47649740	47649740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaaagacagagatcacctAtttacgccatgtgtgcattg	13	10	9	9	1	1	2	1	0	0	2	1	4	1	2	2	0	2	1	2	0	3	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:47649740A>G	ENST00000398742.2	+	5	1290	c.1241A>G	c.(1240-1242)tAt>tGt	p.Y414C	GPR111_ENST00000296862.1_Missense_Mutation_p.Y482C|GPR111_ENST00000507065.1_Missense_Mutation_p.Y414C			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	482	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAGATCACCTATTTACGCCAT	0.463													15	60					0	0	0	0	G	47649740	A	G	47649740	3	3	192	1	0	0	0	0	1	0	0	0	6677	449	16	5	1259	5	GPR111	6	47649740	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	1435240	47649740	123465327	178	33688											
DST	667	broad.mit.edu	37	chr6	56489356	56489356	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagcctcttcaatgaaTcaccagcaaatttaatatat	14	13	3	11	0	3	1	2	1	1	0	4	1	4	1	3	0	2	1	3	0	6	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:56489356T>C	ENST00000370754.5	-	35	4801	c.4802A>G	c.(4801-4803)gAt>gGt	p.D1601G	DST_ENST00000312431.6_Missense_Mutation_p.D1423G|DST_ENST00000361203.3_Missense_Mutation_p.D1423G|DST_ENST00000446842.2_Missense_Mutation_p.D1097G|DST_ENST00000244364.6_Missense_Mutation_p.D1097G|DST_ENST00000370788.2_Missense_Mutation_p.D1423G|DST_ENST00000421834.2_Missense_Mutation_p.D1423G|DST_ENST00000518935.1_Missense_Mutation_p.D1097G|DST_ENST00000370769.4_Missense_Mutation_p.D1423G|DST_ENST00000370765.6_Missense_Mutation_p.D1097G			Q03001	DYST_HUMAN	dystonin	1423					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTCAATGAATCACCAGCAAA	0.393													8	35					0	0	0	0	C	56489356	T	C	56489356	3	2	192	1	0	0	0	0	1	0	0	0	4819	1435	50	5	17117	5	DST	6	56489356	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	8839616	56489356	114625711	179	33689											
COL9A1	1297	broad.mit.edu	37	chr6	70952405	70952405	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatcccactggtcctaatTctcctctactgccctgtaaa	8	12	7	14	0	2	0	0	0	2	0	5	1	4	1	4	2	2	1	4	2	4	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:70952405T>A	ENST00000357250.6	-	29	2044	c.1886A>T	c.(1885-1887)gAa>gTa	p.E629V	COL9A1_ENST00000320755.7_Missense_Mutation_p.E386V|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.E386V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	629	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGTCCTAATTCTCCTCTACT	0.348													21	48					0	0	0	0	A	70952405	T	A	70952405	3	1	192	1	0	0	0	0	1	0	0	0	3737	1783	62	5	919	5	COL9A1	6	70952405	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	14463049	70952405	100162662	180	33690											
FILIP1	27145	broad.mit.edu	37	chr6	76023776	76023776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttagtaagtcaacactgCagcttaattcagaggatttt	12	15	7	7	0	3	1	2	0	1	1	3	2	3	2	0	1	3	3	0	1	4	7			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:76023776C>T	ENST00000393004.2	-	5	1993	c.1772G>A	c.(1771-1773)tGc>tAc	p.C591Y	FILIP1_ENST00000370020.1_Missense_Mutation_p.C492Y|FILIP1_ENST00000237172.7_Missense_Mutation_p.C591Y|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	591										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTCAACACTGCAGCTTAATTC	0.388													37	119					0	0	0	0	T	76023776	C	T	76023776	3	4	192	1	0	0	0	0	1	0	0	0	5939	710	25	4	1877	4	FILIP1	6	76023776	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	5071371	76023776	95091291	181	33691											
SNX14	57231	broad.mit.edu	37	chr6	86256905	86256905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataaaacgaaataaaagatCttgttgctctctgatttgct	14	14	6	7	1	2	2	0	1	2	1	3	3	2	2	0	0	3	3	0	0	5	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:86256905C>T	ENST00000314673.3	-	12	1209	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	SNX14_ENST00000505648.1_Missense_Mutation_p.D293N|SNX14_ENST00000369627.2_Missense_Mutation_p.D345N|SNX14_ENST00000346348.3_Missense_Mutation_p.D301N|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Missense_Mutation_p.D345N	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	345	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AATAAAAGATCTTGTTGCTCT	0.343													6	12					0	0	0	0	T	86256905	C	T	86256905	3	4	192	1	0	0	0	0	1	0	0	0	14973	913	32	2	1879	2	SNX14	6	86256905	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	10233129	86256905	84858162	182	33692											
MDN1	23195	broad.mit.edu	37	chr6	90382061	90382061	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagttttgttagatgtcctGattgcagtctctcaaagcct	9	15	9	8	0	2	3	1	1	1	2	4	3	3	3	2	0	2	3	2	0	2	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:90382061G>C	ENST00000369393.3	-	82	13767	c.13652C>G	c.(13651-13653)tCa>tGa	p.S4551*	MDN1_ENST00000468568.1_5'UTR|MDN1_ENST00000428876.1_Nonsense_Mutation_p.S4551*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4551					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAGATGTCCTGATTGCAGTCT	0.413													13	50					0	0	0	0	C	90382061	G	C	90382061	4	2	192	1	0	0	0	0	0	1	0	0	9484	1294	45	2	3222	2	MDN1	6	90382061	Nonsense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4125156	90382061	80733006	183	33693											
BACH2	60468	broad.mit.edu	37	chr6	90718382	90718382	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaccagcgcctgccaaaaaTattcactgcatgcggccagc	12	6	8	15	2	1	0	1	0	0	0	1	0	1	0	4	1	6	1	4	1	4	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:90718382T>C	ENST00000257749.4	-	6	889	c.182A>G	c.(181-183)tAt>tGt	p.Y61C	BACH2_ENST00000343122.3_Missense_Mutation_p.Y61C|BACH2_ENST00000537989.1_Missense_Mutation_p.Y61C	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	61	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTGCCAAAAATATTCACTGCA	0.478													34	59					0	0	0	0	C	90718382	T	C	90718382	3	2	192	1	0	0	0	0	1	0	0	0	1288	1406	49	5	2359	5	BACH2	6	90718382	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	336321	90718382	80396685	184	33694											
MANEA	79694	broad.mit.edu	37	chr6	96053988	96053988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacatagataccagcatcCgtccatggaacacgcaaaac	16	6	7	12	2	0	1	0	0	0	1	2	3	2	2	3	1	5	2	3	1	6	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:96053988C>A	ENST00000358812.4	+	5	1230	c.1096C>A	c.(1096-1098)Cgt>Agt	p.R366S		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	366	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	p.R366C(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TACCAGCATCCGTCCATGGAA	0.418													17	77					7.87624e-14	1.09921e-13	1	0	A	96053988	C	A	96053988	3	1	192	1	0	0	0	0	1	0	0	0	9290	652	23	3	1110	3	MANEA	6	96053988	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	5335606	96053988	75061079	185	33695											
GPR63	81491	broad.mit.edu	37	chr6	97247474	97247474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatggtttcaaaactatatCtaagcaatggactgaggtca	14	11	8	8	0	3	1	2	1	1	0	3	2	3	2	1	3	2	2	1	3	6	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:97247474C>T	ENST00000229955.3	-	2	479	c.134G>A	c.(133-135)aGa>aAa	p.R45K	GPR63_ENST00000417980.1_Missense_Mutation_p.R45K	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	45						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AAAACTATATCTAAGCAATGG	0.453													10	55					0	0	0	0	T	97247474	C	T	97247474	3	4	192	1	0	0	0	0	1	0	0	0	6753	913	32	2	1129	2	GPR63	6	97247474	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1193486	97247474	73867593	186	33696											
ASCC3	10973	broad.mit.edu	37	chr6	101037825	101037825	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatatgactaagtcataccTctccaatttcaatacagtag	14	12	5	10	0	3	1	2	1	1	0	4	1	3	1	2	0	2	2	2	0	7	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:101037825T>A	ENST00000369162.2	-	35	5758	c.5415_splice	c.e35+1	p.E1805_splice		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAGTCATACCTCTCCAATTTC	0.343													9	29					0	0	0	0	A	101037825	T	A	101037825	5	1	192	1	0	0	0	0	0	0	1	0	1037	1565	54	5	1226	5	ASCC3	6	101037825	Splice_Site	SNP	T	TCGA-CR-7364-01A-11D-2012-08	3790351	101037825	70077242	187	33697											
ASCC3	10973	broad.mit.edu	37	chr6	101296082	101296082	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatatcatataaagtacagCaaagatcttctactcttggc	14	12	6	9	0	4	1	1	0	3	1	4	1	4	1	0	1	3	3	0	1	7	7			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:101296082C>G	ENST00000369162.2	-	4	1087	c.743G>C	c.(742-744)tGc>tCc	p.C248S	ASCC3_ENST00000522650.1_Missense_Mutation_p.C248S	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TAAAGTACAGCAAAGATCTTC	0.318													9	50					0	0	0	0	G	101296082	C	G	101296082	3	3	192	1	0	0	0	0	1	0	0	0	1037	710	25	4	6021	4	ASCC3	6	101296082	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	258257	101296082	69818985	188	33698											
POPDC3	64208	broad.mit.edu	37	chr6	105606590	105606590	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttctttctcctccaagAcacatatcgacaatcagttt	12	15	3	11	1	3	1	1	0	2	1	6	2	4	1	2	0	0	1	2	0	4	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:105606590A>T	ENST00000254765.3	-	4	909	c.631T>A	c.(631-633)Tct>Act	p.S211T	POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	211						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CTCCTCCAAGACACATATCGA	0.403													61	163					0	0	0	0	T	105606590	A	T	105606590	3	4	192	1	0	0	0	0	1	0	0	0	12328	275	10	5	248	5	POPDC3	6	105606590	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	4310508	105606590	65508477	189	33699											
RTN4IP1	84816	broad.mit.edu	37	chr6	107070746	107070746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacattccatcaccacgcCagagacatcccgacccagag	12	4	6	19	2	1	2	1	0	0	2	3	4	3	2	6	0	0	0	6	0	0	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:107070746C>T	ENST00000539449.1	-	2	849	c.373G>A	c.(373-375)Ggc>Agc	p.G125S	RTN4IP1_ENST00000369063.3_Missense_Mutation_p.G125S			Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	125						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		ATCACCACGCCAGAGACATCC	0.478													9	29					0	0	0	0	T	107070746	C	T	107070746	3	4	192	1	0	0	0	0	1	0	0	0	13814	594	21	4	849	4	RTN4IP1	6	107070746	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1464156	107070746	64044321	190	33700											
ROS1	6098	broad.mit.edu	37	chr6	117710810	117710810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgaggtaggatgagatGggaagcagagccatccagaa	14	5	16	6	1	0	3	0	1	0	3	1	8	1	5	2	3	3	2	2	3	3	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:117710810G>T	ENST00000368508.3	-	12	1660	c.1462C>A	c.(1462-1464)Cat>Aat	p.H488N	ROS1_ENST00000368507.3_Missense_Mutation_p.H497N|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	488					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGATGAGATGGGAAGCAGAG	0.433			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								21	48					2.54575e-18	3.78583e-18	1	0	T	117710810	G	T	117710810	3	4	192	1	0	0	0	0	1	0	0	0	13616	1348	47	4	5709	4	ROS1	6	117710810	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	10640064	117710810	53404257	191	33701											
TRDN	10345	broad.mit.edu	37	chr6	123687329	123687329	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttggctcgttcagtttcTgcaagttcagatattaaagg	9	16	9	7	1	4	1	2	0	2	1	5	1	4	1	0	2	1	5	0	2	4	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:123687329T>C	ENST00000334268.4	-	20	1591		c.e20-2		TRDN_ENST00000398178.3_Splice_Site			Q13061	TRDN_HUMAN	triadin						muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GTTCAGTTTCTGCAAGTTCAG	0.308													5	25					0	0	0	0	C	123687329	T	C	123687329	5	2	192	1	0	0	0	0	0	0	1	0	16563	1594	55	5	1005	5	TRDN	6	123687329	Splice_Site	SNP	T	TCGA-CR-7364-01A-11D-2012-08	5976519	123687329	47427738	192	33702											
LAMA2	3908	broad.mit.edu	37	chr6	129380955	129380955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccgattacaaatgctattGatggaaagaacacttggtgg	14	10	10	7	1	0	2	0	1	0	1	0	4	0	3	1	3	3	1	1	3	5	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:129380955G>A	ENST00000421865.2	+	3	359	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	104	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAATGCTATTGATGGAAAGAA	0.358													10	23					0	0	0	0	A	129380955	G	A	129380955	3	1	192	1	0	0	0	0	1	0	0	0	8659	1290	45	2	320	2	LAMA2	6	129380955	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	5693626	129380955	41734112	193	33703											
TMEM200A	114801	broad.mit.edu	37	chr6	130762603	130762603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcccgtcagcacagtgctaCcaaggaataattccattggg	12	8	10	11	1	1	0	1	0	0	0	2	1	2	1	3	2	4	2	3	2	4	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:130762603C>G	ENST00000392429.1	+	2	3414	c.1036C>G	c.(1036-1038)Cca>Gca	p.P346A	TMEM200A_ENST00000545622.1_Missense_Mutation_p.P346A|TMEM200A_ENST00000296978.3_Missense_Mutation_p.P346A	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	346						integral to membrane		p.P346T(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CACAGTGCTACCAAGGAATAA	0.517													13	50					0	0	0	0	G	130762603	C	G	130762603	3	3	192	1	0	0	0	0	1	0	0	0	16217	507	18	4	1038	4	TMEM200A	6	130762603	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1381648	130762603	40352464	194	33704											
CTGF	1490	broad.mit.edu	37	chr6	132270617	132270617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actccacagaatttagctcgGtatgtcttcatgctggtgca	9	13	9	10	1	2	1	1	0	1	1	4	1	3	1	1	2	3	4	1	2	3	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:132270617G>A	ENST00000367976.3	-	5	1037	c.837C>T	c.(835-837)taC>taT	p.Y279Y		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	279	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		ATTTAGCTCGGTATGTCTTCA	0.537													83	307					0	0	0	0	A	132270617	G	A	132270617	2	1	192	1	0	0	0	0	0	0	0	1	4040	1256	44	4		4	CTGF	6	132270617	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1508014	132270617	38844450	195	33705											
OLIG3	167826	broad.mit.edu	37	chr6	137815175	137815175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catcttctgcatcatatcgcCctgcgtggacgagaccgagt	8	10	10	13	4	3	1	1	0	2	1	4	4	3	2	2	1	2	1	2	1	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:137815175C>T	ENST00000367734.2	-	1	356	c.133G>A	c.(133-135)Ggc>Agc	p.G45S		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ATCATATCGCCCTGCGTGGAC	0.607													31	112					0	0	0	0	T	137815175	C	T	137815175	3	4	192	1	0	0	0	0	1	0	0	0	10933	623	22	4	689	4	OLIG3	6	137815175	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	5544558	137815175	33299892	196	33706											
SYNE1	23345	broad.mit.edu	37	chr6	152647563	152647563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagggtggctaccaggCtgtggagctcctccaggtta	6	9	15	11	0	0	0	0	0	0	0	3	1	3	1	4	6	2	4	4	6	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:152647563C>A	ENST00000367255.5	-	79	15762	c.15161G>T	c.(15160-15162)aGc>aTc	p.S5054I	SYNE1_ENST00000423061.1_Missense_Mutation_p.S4983I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S5054I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S4801I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4983I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5054					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCTACCAGGCTGTGGAGCTC	0.522										HNSCC(10;0.0054)			20	71					3.51602e-12	4.78088e-12	1	0	A	152647563	C	A	152647563	3	1	192	1	0	0	0	0	1	0	0	0	15536	797	28	4	11577	4	SYNE1	6	152647563	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	14832388	152647563	18467504	197	33707											
CNKSR3	154043	broad.mit.edu	37	chr6	154727611	154727611	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctggaatggaatcgtGgcgctgctgtggagatctga	7	11	14	9	2	1	2	0	1	1	1	4	5	3	4	2	4	1	2	2	4	2	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:154727611G>A	ENST00000607772.1	-	13	2089	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	CNKSR3_ENST00000479339.1_Silent_p.A435A|CNKSR3_ENST00000433165.2_Silent_p.A340A	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	515	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ATGGAATCGTGGCGCTGCTGT	0.582													32	70					0	0	0	0	A	154727611	G	A	154727611	2	1	192	1	0	0	0	0	0	0	0	1	3638	1335	47	4		4	CNKSR3	6	154727611	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2080048	154727611	16387456	198	33708											
NOX3	50508	broad.mit.edu	37	chr6	155718053	155718053	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatcttttgaagtgtccTcgagagagctttaggtccac	9	12	10	10	1	1	2	0	1	1	1	4	4	3	2	2	1	1	2	2	1	2	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:155718053T>C	ENST00000159060.2	-	13	1726	c.1624A>G	c.(1624-1626)Agg>Ggg	p.R542G		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	542							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGAAGTGTCCTCGAGAGAGCT	0.468													28	69					0	0	0	0	C	155718053	T	C	155718053	3	2	192	1	0	0	0	0	1	0	0	0	10627	1550	54	5	86	5	NOX3	6	155718053	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	990442	155718053	15397014	199	33709											
LPA	4018	broad.mit.edu	37	chr6	161020587	161020587	+	Frame_Shift_Del	DEL	A	A	-																															gtgtggtgtcatagatgaccAagcttggcaagttcttcctg																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:161020587delA	ENST00000447678.1	-	21	3352	c.3232delT	c.(3232-3234)ggfs	p.W1078fs	LPA_ENST00000316300.5_Frame_Shift_Del_p.W1078fs	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3586	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAGATGACCAAGCTTGGCAA	0.502													9	687	---	---	---	---					-	161020587	A	-	161020587	7	5	192	1	0	1	0	1	0	0	0	0	8967	130	5	0	2970	0	LPA	6	161020587	Frame_Shift_Del	DEL	A	TCGA-CR-7364-01A-11D-2012-08	5302534	161020587	10094480	200	33710											
PLG	5340	broad.mit.edu	37	chr6	161128796	161128796	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaacaggaagtcctccAtaatcattaggatgagagat	16	9	9	7	0	1	3	1	2	0	1	3	6	3	5	2	2	1	0	2	2	5	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:161128796A>G	ENST00000308192.9	+	3	313	c.250A>G	c.(250-252)Ata>Gta	p.I84V	PLG_ENST00000366924.2_Missense_Mutation_p.I84V|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	84	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAGTCCTCCATAATCATTAG	0.408													47	143					0	0	0	0	G	161128796	A	G	161128796	3	3	192	1	0	0	0	0	1	0	0	0	12158	217	8	5	260	5	PLG	6	161128796	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	108209	161128796	9986271	201	33711											
PDE10A	10846	broad.mit.edu	37	chr6	165801917	165801917	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtccaggtcatgacacAgacacgcaatcagcagtcct	11	8	10	12	1	2	2	2	1	0	1	4	2	4	2	2	2	1	2	2	2	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:165801917A>G	ENST00000366882.1	-	18	1806	c.1652T>C	c.(1651-1653)cTg>cCg	p.L551P	PDE10A_ENST00000539869.2_Missense_Mutation_p.L561P|PDE10A_ENST00000354448.4_Missense_Mutation_p.L551P			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	551					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTCATGACACAGACACGCAAT	0.488													25	66					0	0	0	0	G	165801917	A	G	165801917	3	3	192	1	0	0	0	0	1	0	0	0	11701	188	7	5	711	5	PDE10A	6	165801917	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	4673121	165801917	5313150	202	33712											
FBXL18	80028	broad.mit.edu	37	chr7	5541042	5541042	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacgacattgcgcgcCatggagtccaggaggttctt	8	9	12	12	3	1	0	0	0	1	0	3	3	3	2	3	3	2	2	3	3	0	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:5541042C>G	ENST00000382368.3	-	3	981	c.858G>C	c.(856-858)atG>atC	p.M286I	FBXL18_ENST00000453700.3_Missense_Mutation_p.M286I	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	286									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CATTGCGCGCCATGGAGTCCA	0.602													21	26					0	0	0	0	G	5541042	C	G	5541042	3	3	192	1	0	0	0	0	1	0	0	0	5759	594	21	4	1310	4	FBXL18	7	5541042	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08		5541042	153597621	203	33713											
PMS2	5395	broad.mit.edu	37	chr7	6042083	6042083	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accaggattaatttactgtaCcttcttaatattcctttgaa	12	17	4	8	0	1	1	0	1	1	0	2	2	2	2	3	1	2	1	3	1	6	9			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:6042083C>T	ENST00000265849.7	-	5	643		c.e5+1		PMS2_ENST00000441476.2_Splice_Site|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Splice_Site|PMS2_ENST00000382321.4_Splice_Site	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)						mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATTTACTGTACCTTCTTAATA	0.408			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	146					0	0	0	0	T	6042083	C	T	6042083	5	4	192	1	0	0	0	0	0	0	1	0	12215	521	18	4	2094	4	PMS2	7	6042083	Splice_Site	SNP	C	TCGA-CR-7364-01A-11D-2012-08	501041	6042083	153096580	204	33714											
IGF2BP3	10643	broad.mit.edu	37	chr7	23383461	23383461	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctggattatacagcgtcAattcctgcaatctgcagaat	11	13	8	9	1	3	1	1	0	2	1	4	2	4	2	1	1	4	3	1	1	5	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:23383461A>T	ENST00000258729.3	-	9	1309	c.953T>A	c.(952-954)tTg>tAg	p.L318*		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	318	KH 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						ATACAGCGTCAATTCCTGCAA	0.383													27	27					0	0	0	0	T	23383461	A	T	23383461	4	4	192	1	0	0	0	0	0	1	0	0	7628	131	5	5	814	5	IGF2BP3	7	23383461	Nonsense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	17341378	23383461	135755202	205	33715											
HNRNPA2B1	3181	broad.mit.edu	37	chr7	26232884	26232885	+	Frame_Shift_Ins	INS	-	-	C																															aattacctccaccatatggtINSccccccatgttcctgctacc																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:26232884_26232885insC	ENST00000354667.4	-	10	1154_1155	c.986_987insG	c.(985-987)gccfs	p.A329fs	HNRNPA2B1_ENST00000356674.7_Frame_Shift_Ins_p.A317fs	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	329	Gly-rich.|Nuclear targeting sequence (By similarity).				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CACCATATGGTCCCCCCATGTT	0.361			T	ETV1	prostate								25	107	---	---	---	---					C	26232885	-	C	26232884	7	5	192	1	0	1	1	0	0	0	0	0	7309	1654	58	0	82	0	HNRNPA2B1	7	26232884	Frame_Shift_Ins	INS	-	TCGA-CR-7364-01A-11D-2012-08	2849423	26232884	132905779	206	33716											
CREB5	9586	broad.mit.edu	37	chr7	28857725	28857725	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatgaggtggcccagcTgaaacagttgttgttaacac	14	9	11	7	0	0	2	0	2	0	0	0	3	0	2	1	2	3	4	1	2	4	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:28857725T>A	ENST00000357727.2	+	10	1682	c.1292T>A	c.(1291-1293)cTg>cAg	p.L431Q	CREB5_ENST00000396298.2_Missense_Mutation_p.L292Q|CREB5_ENST00000409603.1_Missense_Mutation_p.L398Q|CREB5_ENST00000396300.2_Missense_Mutation_p.L424Q|CREB5_ENST00000396299.2_Missense_Mutation_p.L398Q	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	431	Leucine-zipper.				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GTGGCCCAGCTGAAACAGTTG	0.388													20	78					0	0	0	0	A	28857725	T	A	28857725	3	1	192	1	0	0	0	0	1	0	0	0	3890	1580	55	5	1381	5	CREB5	7	28857725	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	2624841	28857725	130280938	207	33717											
CPVL	54504	broad.mit.edu	37	chr7	29152338	29152338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgagctgggaagaaccaGaagaagaggttgctgttgta	13	8	14	6	0	0	5	0	1	0	4	0	6	0	6	2	2	3	5	2	2	5	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:29152338G>C	ENST00000409850.1	-	7	916	c.270C>G	c.(268-270)ttC>ttG	p.F90L	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000265394.5_Missense_Mutation_p.F90L|CPVL_ENST00000396276.3_Missense_Mutation_p.F90L			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	90					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GGAAGAACCAGAAGAAGAGGT	0.493													34	37					0	0	0	0	C	29152338	G	C	29152338	3	2	192	1	0	0	0	0	1	0	0	0	3865	933	33	2	1204	2	CPVL	7	29152338	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	294613	29152338	129986325	208	33718											
BMPER	168667	broad.mit.edu	37	chr7	34125437	34125437	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcatctcaagggcaagcTctgtggtctttgtggcaact	7	11	12	11	1	3	0	1	0	3	0	4	0	3	0	1	3	2	4	1	3	3	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:34125437T>G	ENST00000297161.2	+	14	1852	c.1478T>G	c.(1477-1479)cTc>cGc	p.L493R	BMPER_ENST00000426693.1_Missense_Mutation_p.L493R	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	493	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AAGGGCAAGCTCTGTGGTCTT	0.443													32	50					0	0	0	0	G	34125437	T	G	34125437	3	3	192	1	0	0	0	0	1	0	0	0	1473	1551	54	5	1528	5	BMPER	7	34125437	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	4973099	34125437	125013226	209	33719											
MYO1G	64005	broad.mit.edu	37	chr7	45005293	45005293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcacagcagggggcagcGgccacacaaggtcacgcccg	10	1	15	15	3	1	0	1	0	0	0	1	0	1	0	2	4	3	4	2	4	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:45005293G>A	ENST00000258787.7	-	17	2460	c.2324C>T	c.(2323-2325)cCg>cTg	p.P775L		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	775						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.P775L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						AGGGGGCAGCGGCCACACAAG	0.637													44	43					0	0	0	0	A	45005293	G	A	45005293	3	1	192	1	0	0	0	0	1	0	0	0	10144	1116	39	1	756	1	MYO1G	7	45005293	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	10879856	45005293	114133370	210	33720											
HUS1	3364	broad.mit.edu	37	chr7	48016391	48016391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctaggaatcacctttatgGggatgtcatgggtcacaatg	10	12	11	8	0	3	0	3	0	0	0	4	2	4	2	2	4	0	0	2	4	4	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:48016391G>A	ENST00000258774.5	-	4	424	c.401C>T	c.(400-402)cCc>cTc	p.P134L	HUS1_ENST00000432325.1_Missense_Mutation_p.P113L	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	134					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				CACCTTTATGGGGATGTCATG	0.413								Direct reversal of damage;Other conserved DNA damage response genes					73	101					0	0	0	0	A	48016391	G	A	48016391	3	1	192	1	0	0	0	0	1	0	0	0	7512	1232	43	4	461	4	HUS1	7	48016391	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	3011098	48016391	111122272	211	33721											
ABCA13	154664	broad.mit.edu	37	chr7	48411888	48411888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaacaagtggcatctttGcacacagcaatacctttatt	14	12	6	9	0	1	1	0	1	1	0	1	1	1	1	1	1	4	3	1	1	6	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:48411888G>T	ENST00000435803.1	+	33	10951	c.10927G>T	c.(10927-10929)Gca>Tca	p.A3643S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3643					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						TGGCATCTTTGCACACAGCAA	0.458													68	116					2.50483e-33	3.97641e-33	1	0	T	48411888	G	T	48411888	3	4	192	1	0	0	0	0	1	0	0	0	31	1319	46	4	10886	4	ABCA13	7	48411888	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	395497	48411888	110726775	212	33722											
GBAS	2631	broad.mit.edu	37	chr7	56062652	56062652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggattcttctctcagattgGgcagctgtacatggtgcacc	8	12	11	10	0	3	1	1	0	2	1	4	2	3	2	1	3	3	4	1	3	1	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:56062652G>A	ENST00000322090.3	+	8	712	c.683G>A	c.(682-684)gGg>gAg	p.G228E	GBAS_ENST00000446778.1_Missense_Mutation_p.G189E	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	228						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTCAGATTGGGCAGCTGTAC	0.453													34	669					0	0	0	0	A	56062652	G	A	56062652	3	1	192	1	0	0	0	0	1	0	0	0	6318	1232	43	4	713	4	GBAS	7	56062652	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	7650764	56062652	103076011	213	33723											
TBL2	26608	broad.mit.edu	37	chr7	72985558	72985558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaacgagtgcacagccGcggagtggccctttagttcg	10	7	13	11	4	0	0	0	0	0	0	1	2	0	1	2	2	4	3	2	2	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:72985558G>A	ENST00000305632.5	-	6	1080	c.839C>T	c.(838-840)gCg>gTg	p.A280V	TBL2_ENST00000432538.1_Missense_Mutation_p.A244V|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	280										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGCACAGCCGCGGAGTGGCC	0.567													15	44					0	0	0	0	A	72985558	G	A	72985558	3	1	192	1	0	0	0	0	1	0	0	0	15736	1087	38	1	512	1	TBL2	7	72985558	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	16922906	72985558	86153105	214	33724											
HGF	3082	broad.mit.edu	37	chr7	81346600	81346600	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggatttcccgtgtagcaCcagggtccatgagcatcatc	9	10	11	11	1	1	1	1	1	0	0	4	2	3	2	3	2	2	3	3	2	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:81346600C>G	ENST00000222390.5	-	11	1579	c.1353G>C	c.(1351-1353)tgG>tgC	p.W451C	HGF_ENST00000457544.2_Missense_Mutation_p.W446C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	451	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCGTGTAGCACCAGGGTCCAT	0.423													15	48					0	0	0	0	G	81346600	C	G	81346600	3	3	192	1	0	0	0	0	1	0	0	0	7135	508	18	4	865	4	HGF	7	81346600	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	8361042	81346600	77792063	215	33725											
PCLO	27445	broad.mit.edu	37	chr7	82764673	82764673	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctttgggaggggctggCttggacaaagaatctgcctc	7	11	15	8	0	2	1	0	0	2	1	3	3	2	3	1	6	1	3	1	6	2	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:82764673C>A	ENST00000423517.2	-	3	2530	c.2193G>T	c.(2191-2193)aaG>aaT	p.K731N	PCLO_ENST00000333891.8_Missense_Mutation_p.K731N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	677	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGGGCTGGCTTGGACAAAG	0.537													10	43					0.000442599	0.000500981	1	0	A	82764673	C	A	82764673	3	1	192	1	0	0	0	0	1	0	0	0	11654	796	28	4	13344	4	PCLO	7	82764673	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1418073	82764673	76373990	216	33726											
PCLO	27445	broad.mit.edu	37	chr7	82784850	82784850	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctgctgagctggaggcttAgcaggaccaagaggctgagc	9	7	16	9	0	1	3	0	2	1	1	1	5	1	5	1	4	4	5	1	4	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:82784850A>G	ENST00000423517.2	-	2	1444	c.1107T>C	c.(1105-1107)gcT>gcC	p.A369A	PCLO_ENST00000333891.8_Silent_p.A369A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	329	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGGAGGCTTAGCAGGACCAA	0.577													11	36					0	0	0	0	G	82784850	A	G	82784850	2	3	192	1	0	0	0	0	0	0	0	1	11654	407	15	5		5	PCLO	7	82784850	Silent	SNP	A	TCGA-CR-7364-01A-11D-2012-08	20177	82784850	76353813	217	33727											
SEMA3A	10371	broad.mit.edu	37	chr7	83590917	83590917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccttctggctaggtgTcatgctattggacatttctt	7	15	9	10	0	3	1	1	0	2	1	3	2	3	2	2	3	1	2	2	3	2	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:83590917T>C	ENST00000265362.3	-	17	2400	c.2086A>G	c.(2086-2088)Aca>Gca	p.T696A	SEMA3A_ENST00000436949.1_Missense_Mutation_p.T696A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	696					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TGGCTAGGTGTCATGCTATTG	0.438													31	81					0	0	0	0	C	83590917	T	C	83590917	3	2	192	1	0	0	0	0	1	0	0	0	14111	1667	58	5	233	5	SEMA3A	7	83590917	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	806067	83590917	75547746	218	33728											
TECPR1	25851	broad.mit.edu	37	chr7	97874270	97874270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccactcccagtgcggcgagGgcagtgccaccctgtccagc	6	5	12	18	2	0	0	0	0	0	0	2	1	2	0	5	2	3	1	5	2	0	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:97874270G>A	ENST00000447648.2	-	4	634	c.335C>T	c.(334-336)cCc>cTc	p.P112L	TECPR1_ENST00000379795.3_Missense_Mutation_p.P112L|TECPR1_ENST00000542604.1_Missense_Mutation_p.P33L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	112						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTGCGGCGAGGGCAGTGCCAC	0.622													8	22					0	0	0	0	A	97874270	G	A	97874270	3	1	192	1	0	0	0	0	1	0	0	0	15837	1232	43	4	3254	4	TECPR1	7	97874270	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	14283353	97874270	61264393	219	33729											
RELN	5649	broad.mit.edu	37	chr7	103194255	103194255	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgataatgaagtcatcaaCaatccagatttcttctttct	13	15	4	9	1	5	2	2	1	3	1	7	3	6	2	1	0	1	0	1	0	4	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:103194255C>A	ENST00000428762.1	-	39	5980	c.5821G>T	c.(5821-5823)Gtt>Ttt	p.V1941F	RELN_ENST00000424685.2_Missense_Mutation_p.V1941F|RELN_ENST00000343529.5_Missense_Mutation_p.V1941F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1941					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGTCATCAACAATCCAGATT	0.348													11	54					6.40141e-05	7.39072e-05	1	0	A	103194255	C	A	103194255	3	1	192	1	0	0	0	0	1	0	0	0	13302	478	17	4	4669	4	RELN	7	103194255	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	5319985	103194255	55944408	220	33730											
RELN	5649	broad.mit.edu	37	chr7	103202352	103202352	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaatcgcccaggaatcagcCcccacagtgtagttggcctg	9	8	10	14	1	2	0	2	0	0	0	3	1	2	1	4	2	1	2	4	2	3	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:103202352C>T	ENST00000428762.1	-	35	5418	c.5259G>A	c.(5257-5259)ggG>ggA	p.G1753G	RELN_ENST00000424685.2_Silent_p.G1753G|RELN_ENST00000343529.5_Silent_p.G1753G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1753					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGAATCAGCCCCCACAGTGT	0.478													11	19					0	0	0	0	T	103202352	C	T	103202352	2	4	192	1	0	0	0	0	0	0	0	1	13302	610	22	4		4	RELN	7	103202352	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	8097	103202352	55936311	221	33731											
SLC26A3	1811	broad.mit.edu	37	chr7	107423469	107423469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactgctgatctggagaGggcagtactcccagcaaatc	11	8	11	11	0	1	3	0	2	1	1	3	4	2	3	1	2	4	4	1	2	3	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:107423469G>T	ENST00000340010.5	-	10	1373	c.1189C>A	c.(1189-1191)Ctc>Atc	p.L397I	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L362I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	397					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GATCTGGAGAGGGCAGTACTC	0.458													32	87					9.17885e-22	1.39774e-21	1	0	T	107423469	G	T	107423469	3	4	192	1	0	0	0	0	1	0	0	0	14606	1000	35	4	1153	4	SLC26A3	7	107423469	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4221117	107423469	51715194	222	33732											
LAMB4	22798	broad.mit.edu	37	chr7	107696308	107696308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgatcaaagcacaagtgaCattgaagacaagtagggaat	18	7	10	6	0	1	4	1	3	0	1	1	5	1	5	0	1	1	2	0	1	6	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:107696308C>T	ENST00000388781.3	-	25	3607	c.3524G>A	c.(3523-3525)tGt>tAt	p.C1175Y	LAMB4_ENST00000388780.3_Missense_Mutation_p.C1175Y|LAMB4_ENST00000205386.4_Missense_Mutation_p.C1175Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1175	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCACAAGTGACATTGAAGACA	0.542													20	75					0	0	0	0	T	107696308	C	T	107696308	3	4	192	1	0	0	0	0	1	0	0	0	8666	478	17	4	1801	4	LAMB4	7	107696308	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	272839	107696308	51442355	223	33733											
ASZ1	136991	broad.mit.edu	37	chr7	117003704	117003704	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagaaaaccgaatccgcaTatggtaatagctgtcctctt	14	10	8	9	2	1	2	0	0	1	2	3	3	3	2	3	1	2	3	3	1	7	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:117003704T>C	ENST00000284629.2	-	13	1436	c.1374A>G	c.(1372-1374)atA>atG	p.I458M		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	458					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CGAATCCGCATATGGTAATAG	0.318													14	40					0	0	0	0	C	117003704	T	C	117003704	3	2	192	1	0	0	0	0	1	0	0	0	1073	1396	49	5	57	5	ASZ1	7	117003704	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	9307396	117003704	42134959	224	33734											
ASB15	142685	broad.mit.edu	37	chr7	123270163	123270163	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagaatggccagaaatccgCcaaatactaggtaaaaacca	19	5	8	9	1	0	2	0	0	0	2	1	3	1	2	4	2	2	1	4	2	8	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:123270163C>A	ENST00000451558.1	+	13	2105	c.1584C>A	c.(1582-1584)cgC>cgA	p.R528R	ASB15_ENST00000434204.1_Silent_p.R528R|ASB15_ENST00000451215.1_Silent_p.R528R|ASB15_ENST00000275699.3_Silent_p.R528R|ASB15_ENST00000540573.1_Silent_p.R528R			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	528	SOCS box.				intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CAGAAATCCGCCAAATACTAG	0.353													20	49					5.35267e-07	6.54902e-07	1	0	A	123270163	C	A	123270163	2	1	192	1	0	0	0	0	0	0	0	1	1023	726	26	4		4	ASB15	7	123270163	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	6266459	123270163	35868500	225	33735											
ZNF282	8427	broad.mit.edu	37	chr7	148903833	148903833	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtacttctccgaagacGagtggaagaacttggacgaa	12	9	12	8	3	1	2	0	0	1	2	2	7	1	4	1	2	2	1	1	2	5	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:148903833G>T	ENST00000262085.3	+	3	736	c.631G>T	c.(631-633)Gag>Tag	p.E211*	ZNF282_ENST00000479907.1_Nonsense_Mutation_p.E211*	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	211	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTCCGAAGACGAGTGGAAGAA	0.498													74	174					9.07738e-34	1.44465e-33	1	0	T	148903833	G	T	148903833	4	4	192	1	0	0	0	0	0	1	0	0	17914	1059	37	3	641	3	ZNF282	7	148903833	Nonsense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	25633670	148903833	10234830	226	33736											
USP17L2	377630	broad.mit.edu	37	chr8	11995836	11995836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcagccaatgcctgtgagGgctggatgacatgaccagga	11	6	14	10	0	0	3	0	3	0	0	0	5	0	5	3	3	3	2	3	3	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:11995836G>A	ENST00000333796.3	-	1	750	c.434C>T	c.(433-435)cCc>cTc	p.P145L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	145					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGCCTGTGAGGGCTGGATGAC	0.527													39	70					0	0	0	0	A	11995836	G	A	11995836	3	1	192	1	0	0	0	0	1	0	0	0	17144	1232	43	4	1162	4	USP17L2	8	11995836	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08		11995836	134368186	227	33737											
LONRF1	91694	broad.mit.edu	37	chr8	12598387	12598387	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtaaactgattacctttTgtacttgcagctttgcaggt	8	17	9	7	0	0	1	0	1	0	0	0	1	0	1	1	2	6	5	1	2	4	8			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:12598387T>C	ENST00000398246.3	-	3	1028	c.959A>G	c.(958-960)cAa>cGa	p.Q320R	LONRF1_ENST00000530693.1_5'UTR|LONRF1_ENST00000533751.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	320					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GATTACCTTTTGTACTTGCAG	0.373													39	64					0	0	0	0	C	12598387	T	C	12598387	3	2	192	1	0	0	0	0	1	0	0	0	8958	1812	63	5	1402	5	LONRF1	8	12598387	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	602551	12598387	133765635	228	33738											
PTK2B	2185	broad.mit.edu	37	chr8	27310644	27310644	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgcagtggagttcacaggGcccccacagaagcccccgag	10	5	12	14	1	1	1	1	0	0	1	1	3	1	2	4	2	2	2	4	2	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:27310644G>A	ENST00000397501.1	+	33	3370	c.2562G>A	c.(2560-2562)ggG>ggA	p.G854G	PTK2B_ENST00000346049.5_Silent_p.G854G|PTK2B_ENST00000338238.4_Silent_p.G812G|PTK2B_ENST00000544172.1_Silent_p.G854G|PTK2B_ENST00000517339.1_Silent_p.G812G|PTK2B_ENST00000420218.2_Silent_p.G812G	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	854	Interaction with TGFB1I1 (By similarity).|Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGTTCACAGGGCCCCCACAGA	0.542													33	60					0	0	0	0	A	27310644	G	A	27310644	2	1	192	1	0	0	0	0	0	0	0	1	12843	1190	42	4		4	PTK2B	8	27310644	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	14712257	27310644	119053378	229	33739											
FGFR1	2260	broad.mit.edu	37	chr8	38287450	38287450	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggactccacttccacaggGgctccccagggctgggctgc	7	6	13	15	0	0	0	0	0	0	0	3	1	3	1	4	5	1	3	4	5	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:38287450G>A	ENST00000341462.5	-	3	1049	c.108C>T	c.(106-108)gcC>gcT	p.A36A	FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000447712.2_Silent_p.A36A|FGFR1_ENST00000425967.3_Silent_p.A69A|FGFR1_ENST00000397091.5_Silent_p.A36A|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000397108.4_Silent_p.A36A|FGFR1_ENST00000397113.2_Silent_p.A36A|FGFR1_ENST00000335922.5_Silent_p.A28A|FGFR1_ENST00000532791.1_Silent_p.A36A			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	36	Ig-like C2-type 1.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CTTCCACAGGGGCTCCCCAGG	0.672		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						82	19					0	0	0	0	A	38287450	G	A	38287450	2	1	192	1	0	0	0	0	0	0	0	1	5908	1219	43	4		4	FGFR1	8	38287450	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	10976806	38287450	108076572	230	33740											
ANK1	286	broad.mit.edu	37	chr8	41522471	41522471	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgacaatgtgcatcacgTtctgacagctgaccaggaag	11	8	10	12	1	2	3	1	3	1	0	2	4	2	4	2	1	2	3	2	1	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:41522471T>A	ENST00000457297.1	-	1	333	c.71A>T	c.(70-72)aAc>aTc	p.N24I	ANK1_ENST00000522543.1_Missense_Mutation_p.N24I|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000396942.1_Intron|ANK1_ENST00000289734.7_Intron|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000522231.1_Missense_Mutation_p.N24I|ANK1_ENST00000314214.8_Missense_Mutation_p.N24I|ANK1_ENST00000352337.4_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000396945.1_Intron	NM_020480.4	NP_065213.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTGCATCACGTTCTGACAGCT	0.602													16	47					0	0	0	0	A	41522471	T	A	41522471	3	1	192	1	0	0	0	0	1	0	0	0	620	1725	60	5	518	5	ANK1	8	41522471	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	3235021	41522471	104841551	231	33741											
RP1	6101	broad.mit.edu	37	chr8	55533742	55533742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctggataacttgtccagGaaggtgcccctcccttttgg	6	12	11	12	0	0	0	0	0	0	0	2	2	2	2	4	4	3	1	4	4	2	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:55533742G>T	ENST00000220676.1	+	2	364	c.216G>T	c.(214-216)agG>agT	p.R72S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	72	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTTGTCCAGGAAGGTGCCCC	0.592													25	95					9.86323e-18	1.4498e-17	1	0	T	55533742	G	T	55533742	3	4	192	1	0	0	0	0	1	0	0	0	13617	1165	41	2	218	2	RP1	8	55533742	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	14011271	55533742	90830280	232	33742											
PENK	5179	broad.mit.edu	37	chr8	57353977	57353977	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtagtccatccaccactctgGgcgacctactcttctcatga	8	11	7	15	1	3	1	1	1	3	0	6	2	5	1	4	1	1	1	4	1	2	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:57353977G>C	ENST00000314922.3	-	2	734	c.658C>G	c.(658-660)Cca>Gca	p.P220A	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.P220A	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	220					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CACCACTCTGGGCGACCTACT	0.537													47	112					0	0	0	0	C	57353977	G	C	57353977	3	2	192	1	0	0	0	0	1	0	0	0	11798	1232	43	4	149	4	PENK	8	57353977	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1820235	57353977	89010045	233	33743											
CHD7	55636	broad.mit.edu	37	chr8	61774807	61774807	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccgaaacagaaacgacAtagatgtcgaaaccctaata	20	5	7	9	3	0	2	0	0	0	2	1	6	0	2	2	0	4	0	2	0	7	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:61774807A>G	ENST00000423902.2	+	36	8362	c.7883A>G	c.(7882-7884)cAt>cGt	p.H2628R	CHD7_ENST00000524602.1_Missense_Mutation_p.H579R	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2628					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGAAACGACATAGATGTCGA	0.353													7	11					0	0	0	0	G	61774807	A	G	61774807	3	3	192	1	0	0	0	0	1	0	0	0	3359	217	8	5	8021	5	CHD7	8	61774807	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	4420830	61774807	84589215	234	33744											
SLCO5A1	81796	broad.mit.edu	37	chr8	70594460	70594460	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaacacagccagccagacAagggttaaagtatgtaattc	16	9	8	8	0	0	1	0	0	0	1	1	1	0	1	2	1	3	3	2	1	6	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:70594460A>C	ENST00000260126.3	-	7	2447	c.1741T>G	c.(1741-1743)Tgt>Ggt	p.C581G	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.C581G|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.C526G	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	581	Kazal-like.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCAGCCAGACAAGGGTTAAAG	0.423													17	68					0	0	0	0	C	70594460	A	C	70594460	3	2	192	1	0	0	0	0	1	0	0	0	14819	130	5	5	821	5	SLCO5A1	8	70594460	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	8819653	70594460	75769562	235	33745											
CRISPLD1	83690	broad.mit.edu	37	chr8	75932314	75932314	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcttcacattgcccaaGgtaaaccagtgtacacatag	12	9	8	12	0	1	0	1	0	0	0	1	0	1	0	3	1	4	3	3	1	5	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:75932314G>A	ENST00000262207.4	+	12	1712	c.1244_splice	c.e12+1	p.R415_splice	CRISPLD1_ENST00000517786.1_Splice_Site_p.R229_splice|CRISPLD1_ENST00000523524.1_Splice_Site_p.R227_splice	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	415	LCCL 2.					extracellular region		p.R415I(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CATTGCCCAAGGTAAACCAGT	0.408													14	32					0	0	0	0	A	75932314	G	A	75932314	5	1	192	1	0	0	0	0	0	0	1	0	3912	1014	35	4	1286	4	CRISPLD1	8	75932314	Splice_Site	SNP	G	TCGA-CR-7364-01A-11D-2012-08	5337854	75932314	70431708	236	33746											
CA2	760	broad.mit.edu	37	chr8	86386585	86386585	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactggaacaccaaatatggGgattttgggaaagctgtgca	13	9	12	7	0	0	0	0	0	0	0	0	3	0	3	1	4	3	2	1	4	4	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:86386585G>T	ENST00000285379.5	+	4	614	c.384G>T	c.(382-384)ggG>ggT	p.G128G		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	128					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCAAATATGGGGATTTTGGGA	0.393													35	111					4.40281e-34	7.02458e-34	1	0	T	86386585	G	T	86386585	2	4	192	1	0	0	0	0	0	0	0	1	2541	1219	43	4		4	CA2	8	86386585	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	10454271	86386585	59977437	237	33747											
TMEM55A	55529	broad.mit.edu	37	chr8	92007999	92007999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggagataagcaattgccCaagaaacataggttgctcga	15	8	10	8	1	0	2	0	0	0	2	1	4	0	2	1	2	4	3	1	2	6	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:92007999C>A	ENST00000285419.3	-	7	994	c.680G>T	c.(679-681)tGg>tTg	p.W227L		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	227						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			AGCAATTGCCCAAGAAACATA	0.363													15	43					1.67942e-08	2.13286e-08	1	0	A	92007999	C	A	92007999	3	1	192	1	0	0	0	0	1	0	0	0	16275	595	21	4	97	4	TMEM55A	8	92007999	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	5621414	92007999	54356023	238	33748											
C8orf47	203111	broad.mit.edu	37	chr8	99101705	99101705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaagctcagcctttaggaCcagaagccaagggtcagcct	11	7	11	12	0	2	2	2	1	0	1	2	3	2	3	4	2	4	1	4	2	4	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:99101705C>A	ENST00000318528.3	+	2	819	c.460C>A	c.(460-462)Cca>Aca	p.P154T	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	154										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GCCTTTAGGACCAGAAGCCAA	0.527													7	46					0.000157383	0.000180069	1	0	A	99101705	C	A	99101705	3	1	192	1	0	0	0	0	1	0	0	0	2456	507	18	4	466	4	C8orf47	8	99101705	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	7093706	99101705	47262317	239	33749											
PKHD1L1	93035	broad.mit.edu	37	chr8	110510777	110510777	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattgaactcactgctgcTcatcggagtcctagatctcc	10	12	7	12	1	3	2	2	1	1	1	6	3	4	3	2	1	3	2	2	1	4	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:110510777T>C	ENST00000378402.5	+	66	10790	c.10686T>C	c.(10684-10686)gcT>gcC	p.A3562A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3562					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCACTGCTGCTCATCGGAGTC	0.343										HNSCC(38;0.096)			18	47					0	0	0	0	C	110510777	T	C	110510777	2	2	192	1	0	0	0	0	0	0	0	1	12044	1538	54	5		5	PKHD1L1	8	110510777	Silent	SNP	T	TCGA-CR-7364-01A-11D-2012-08	11409072	110510777	35853245	240	33750											
PKHD1L1	93035	broad.mit.edu	37	chr8	110530661	110530661	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagggaagagtctgaggagGaagagatccatgggattcat	14	7	16	4	0	2	4	1	1	1	3	3	9	3	8	1	4	0	0	1	4	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:110530661G>T	ENST00000378402.5	+	73	12059	c.11955G>T	c.(11953-11955)agG>agT	p.R3985S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3985					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCTGAGGAGGAAGAGATCCA	0.388										HNSCC(38;0.096)			17	52					1.15088e-07	1.42458e-07	1	0	T	110530661	G	T	110530661	3	4	192	1	0	0	0	0	1	0	0	0	12044	1165	41	2	12245	2	PKHD1L1	8	110530661	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	19884	110530661	35833361	241	33751											
CSMD3	114788	broad.mit.edu	37	chr8	113249531	113249531	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttccttcctttgaaattGtaagagcctttccatatata	10	18	5	8	0	0	2	0	1	0	1	3	2	3	2	4	0	1	2	4	0	5	9			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:113249531G>C	ENST00000297405.5	-	67	10759	c.10515C>G	c.(10513-10515)taC>taG	p.Y3505*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Y3435*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Y3465*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Y3336*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3505						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTGAAATTGTAAGAGCCTT	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	50					0	0	0	0	C	113249531	G	C	113249531	4	2	192	1	0	0	0	0	0	1	0	0	3978	1372	48	4	628	4	CSMD3	8	113249531	Nonsense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2718870	113249531	33114491	242	33752											
CSMD3	114788	broad.mit.edu	37	chr8	113277722	113277722	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattcaattccatcgtgtaGcctggctggcacatgtaaga	10	11	9	11	1	1	1	1	0	0	1	3	1	2	1	3	2	1	4	3	2	3	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:113277722G>T	ENST00000297405.5	-	60	9850	c.9606C>A	c.(9604-9606)ggC>ggA	p.G3202G	CSMD3_ENST00000352409.3_Silent_p.G3132G|CSMD3_ENST00000343508.3_Silent_p.G3162G|CSMD3_ENST00000455883.2_Silent_p.G3033G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3202	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATCGTGTAGCCTGGCTGGC	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			32	63					2.08457e-15	2.96794e-15	1	0	T	113277722	G	T	113277722	2	4	192	1	0	0	0	0	0	0	0	1	3978	958	34	4		4	CSMD3	8	113277722	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	28191	113277722	33086300	243	33753											
CSMD3	114788	broad.mit.edu	37	chr8	113317077	113317077	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttggttttgtattcataatgGgagccattcacaattcgcca	10	15	8	8	1	2	0	2	0	0	0	3	1	2	1	2	2	1	2	2	2	3	8			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:113317077G>A	ENST00000297405.5	-	52	8383	c.8139C>T	c.(8137-8139)tcC>tcT	p.S2713S	CSMD3_ENST00000352409.3_Silent_p.S2643S|CSMD3_ENST00000343508.3_Silent_p.S2673S|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2713	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTCATAATGGGAGCCATTCA	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	25					0	0	0	0	A	113317077	G	A	113317077	2	1	192	1	0	0	0	0	0	0	0	1	3978	1219	43	4		4	CSMD3	8	113317077	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	39355	113317077	33046945	244	33754											
OC90	729330	broad.mit.edu	37	chr8	133036754	133036754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccatgaagaggcccgatccCcaagggacccagtgacttcc	10	6	10	15	1	0	3	0	2	0	1	3	5	3	4	6	2	0	0	6	2	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:133036754C>A	ENST00000262283.5	-	18	2143	c.2044G>T	c.(2044-2046)Ggg>Tgg	p.G682W	OC90_ENST00000603859.1_Missense_Mutation_p.G470W|OC90_ENST00000443356.2_Missense_Mutation_p.G486W|OC90_ENST00000254627.3_Missense_Mutation_p.G470W			Q02509	OC90_HUMAN	otoconin 90	486					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGCCCGATCCCCAAGGGACCC	0.582													13	25					3.27435e-08	4.11726e-08	1	0	A	133036754	C	A	133036754	3	1	192	1	0	0	0	0	1	0	0	0	10885	623	22	4	29	4	OC90	8	133036754	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	19719677	133036754	13327268	245	33755											
PHF20L1	51105	broad.mit.edu	37	chr8	133856460	133856460	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagggcaccgaagacccAggagactcacatcttcagtg	15	5	10	11	1	3	2	2	0	1	2	3	4	3	2	2	2	0	1	2	2	3	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:133856460A>G	ENST00000395386.2	+	20	3107	c.2808A>G	c.(2806-2808)ccA>ccG	p.P936P	PHF20L1_ENST00000395390.2_Silent_p.P911P|PHF20L1_ENST00000220847.7_Silent_p.P323P|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	936							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CCGAAGACCCAGGAGACTCAC	0.418													25	47					0	0	0	0	G	133856460	A	G	133856460	2	3	192	1	0	0	0	0	0	0	0	1	11904	175	7	5		5	PHF20L1	8	133856460	Silent	SNP	A	TCGA-CR-7364-01A-11D-2012-08	819706	133856460	12507562	246	33756											
ZFAT	57623	broad.mit.edu	37	chr8	135614050	135614050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctgacccagcactctgggCcttggacagcagtagtgtga	9	9	12	11	0	2	2	0	2	2	0	2	3	2	3	2	2	2	3	2	2	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:135614050C>A	ENST00000520727.1	-	7	2175	c.1876G>T	c.(1876-1878)Gcc>Tcc	p.A626S	ZFAT_ENST00000377838.3_Missense_Mutation_p.A638S|ZFAT_ENST00000429442.2_Missense_Mutation_p.A626S|ZFAT_ENST00000523399.1_Missense_Mutation_p.A576S|ZFAT_ENST00000520356.1_Missense_Mutation_p.A626S|ZFAT_ENST00000520214.1_Missense_Mutation_p.A626S	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCACTCTGGGCCTTGGACAGC	0.597													21	76					3.5997e-14	5.04594e-14	1	0	A	135614050	C	A	135614050	3	1	192	1	0	0	0	0	1	0	0	0	17727	739	26	4	1863	4	ZFAT	8	135614050	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1757590	135614050	10749972	247	33757											
MAPK15	225689	broad.mit.edu	37	chr8	144804268	144804272	+	Frame_Shift_Del	DEL	GGCCC	GGCCC	-																															cctccccggcttcctccggaGgcccggcccggccggaggat																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:144804268_144804272delGGCCC	ENST00000338033.4	+	14	1601_1605	c.1482_1486delGGCCC	c.(1480-1488)gaggfs	p.EAR494fs		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	494					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCCTCCGGAGGCCCGGCCCGGCCG	0.659													25	180	---	---	---	---					-	144804272	GGCCC	-	144804268	7	5	192	1	0	1	0	1	0	0	0	0	9346	991	35	0	1536	0	MAPK15	8	144804268	Frame_Shift_Del	DEL	GGCCC	TCGA-CR-7364-01A-11D-2012-08	9190218	144804268	1559754	248	33758											
KANK1	23189	broad.mit.edu	37	chr9	738306	738306	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgtctgaacaccctcCagcacgagtggttccgcgtg	6	10	12	13	3	2	1	0	1	2	0	4	2	4	1	3	2	2	3	3	2	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:738306C>T	ENST00000382303.1	+	12	4007	c.3355C>T	c.(3355-3357)Cag>Tag	p.Q1119*	KANK1_ENST00000382293.3_Nonsense_Mutation_p.Q961*|KANK1_ENST00000382297.2_Nonsense_Mutation_p.Q1119*|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1119					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GAACACCCTCCAGCACGAGTG	0.502													8	12					0	0	0	0	T	738306	C	T	738306	4	4	192	1	0	0	0	0	0	1	0	0	8029	595	21	4	3381	4	KANK1	9	738306	Nonsense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08		738306	140475125	249	33759											
PTPRD	5789	broad.mit.edu	37	chr9	8340364	8340364	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccatttcacgcagcttGgtgagcatcacaactatggt	9	11	9	12	1	2	1	2	1	0	0	2	1	2	1	1	2	4	3	1	2	2	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:8340364G>T	ENST00000381196.4	-	39	5775	c.5232C>A	c.(5230-5232)acC>acA	p.T1744T	PTPRD_ENST00000540109.1_Silent_p.T1744T|PTPRD_ENST00000360074.4_Silent_p.T1731T|PTPRD_ENST00000355233.5_Silent_p.T1338T|PTPRD_ENST00000537002.1_Silent_p.T1334T|PTPRD_ENST00000358503.5_Silent_p.T1722T|PTPRD_ENST00000486161.1_Silent_p.T1337T|PTPRD_ENST00000356435.5_Silent_p.T1744T|PTPRD_ENST00000397606.3_Silent_p.T1337T|PTPRD_ENST00000397611.3_Silent_p.T1334T|PTPRD_ENST00000397617.3_Silent_p.T1337T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1744	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACGCAGCTTGGTGAGCATCA	0.483										TSP Lung(15;0.13)			18	26					9.16793e-09	1.17136e-08	1	0	T	8340364	G	T	8340364	2	4	192	1	0	0	0	0	0	0	0	1	12881	1335	47	4		4	PTPRD	9	8340364	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	7602058	8340364	132873067	250	33760											
ALDH1B1	219	broad.mit.edu	37	chr9	38395768	38395768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcttcctggcaccccGgctgcttagcctccagggca	4	8	12	17	2	0	0	0	0	0	0	2	0	2	0	5	3	3	6	5	3	1	2	rs61757680		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:38395768G>A	ENST00000377698.3	+	2	176	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	8					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CTGGCACCCCGGCTGCTTAGC	0.627													30	44					0	0	0	0	A	38395768	G	A	38395768	3	1	192	1	0	0	0	0	1	0	0	0	493	1116	39	1	25	1	ALDH1B1	9	38395768	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	30055404	38395768	102817663	251	33761											
SMC5	23137	broad.mit.edu	37	chr9	72897368	72897368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttcgtcaggaatatgaaGaagtaaaactagttcgtgac	15	11	10	5	2	1	3	1	2	0	1	3	4	1	4	0	1	1	3	0	1	7	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:72897368G>A	ENST00000361138.5	+	7	908	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	284					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GGAATATGAAGAAGTAAAACT	0.353													16	29					0	0	0	0	A	72897368	G	A	72897368	3	1	192	1	0	0	0	0	1	0	0	0	14874	943	33	2	876	2	SMC5	9	72897368	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	34501600	72897368	68316063	252	33762											
FGD3	89846	broad.mit.edu	37	chr9	95738930	95738930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggcggacagcgacgtggGtgaggaacctgactctgaga	10	5	18	8	3	1	3	0	3	1	1	1	8	1	6	1	5	2	0	1	5	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:95738930G>T	ENST00000375482.3	+	3	888	c.392G>T	c.(391-393)gGt>gTt	p.G131V	FGD3_ENST00000337352.6_Missense_Mutation_p.G131V|FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000416701.2_Missense_Mutation_p.G131V	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	131					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGCGACGTGGGTGAGGAACCT	0.682													23	30					9.04412e-07	1.08769e-06	1	0	T	95738930	G	T	95738930	3	4	192	1	0	0	0	0	1	0	0	0	5879	1261	44	4	394	4	FGD3	9	95738930	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	22841562	95738930	45474501	253	33763											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123170649	123170649	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagtctcctgtgctcttcatCcagcttctcatacgccttca	6	14	5	16	1	5	0	3	0	3	0	8	0	6	0	3	0	3	2	3	0	1	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:123170649C>G	ENST00000349780.4	-	31	4881	c.4702G>C	c.(4702-4704)Gat>Cat	p.D1568H	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D1536H|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.D1527H|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D1568H	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1568					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|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						TGCTCTTCATCCAGCTTCTCA	0.557													24	51					0	0	0	0	G	123170649	C	G	123170649	3	3	192	1	0	0	0	0	1	0	0	0	3175	855	30	2	1011	2	CDK5RAP2	9	123170649	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	27431719	123170649	18042782	254	33764											
NR5A1	2516	broad.mit.edu	37	chr9	127253385	127253385	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaagaggatgatgaacttGaggcagacaaactcctgccg	13	7	12	9	1	0	6	0	4	0	2	1	7	1	7	2	2	3	1	2	2	3	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:127253385G>C	ENST00000373588.4	-	6	1309	c.1113C>G	c.(1111-1113)ctC>ctG	p.L371L		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	371	Important for dimerization.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						TGATGAACTTGAGGCAGACAA	0.652													7	12					0	0	0	0	C	127253385	G	C	127253385	2	2	192	1	0	0	0	0	0	0	0	1	10706	1277	45	2		2	NR5A1	9	127253385	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4082736	127253385	13960046	255	33765											
GAPVD1	26130	broad.mit.edu	37	chr9	128099315	128099315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgcccaccagctgacctCtcctccttctcagtcagagt	7	10	8	16	0	3	2	2	1	2	1	6	2	4	2	5	1	2	1	5	1	0	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:128099315C>T	ENST00000470056.1	+	14	2607	c.2447C>T	c.(2446-2448)tCt>tTt	p.S816F	GAPVD1_ENST00000394104.2_Missense_Mutation_p.S816F|GAPVD1_ENST00000495955.1_Missense_Mutation_p.S816F|GAPVD1_ENST00000394083.2_Missense_Mutation_p.S795F|GAPVD1_ENST00000297933.6_Missense_Mutation_p.S816F|GAPVD1_ENST00000394105.2_Missense_Mutation_p.S843F|GAPVD1_ENST00000265956.4_Intron|GAPVD1_ENST00000312123.9_Missense_Mutation_p.S795F			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	816					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGCTGACCTCTCCTCCTTCT	0.468													22	31					0	0	0	0	T	128099315	C	T	128099315	3	4	192	1	0	0	0	0	1	0	0	0	6288	913	32	2	2582	2	GAPVD1	9	128099315	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	845930	128099315	13114116	256	33766											
OLAH	55301	broad.mit.edu	37	chr10	15113820	15113820	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtaccatctaaggctgttcTttcctgtgacttgacatgtt	7	16	8	10	1	2	2	0	2	2	0	3	2	3	2	2	1	1	4	2	1	2	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:15113820T>A	ENST00000378217.3	+	8	945	c.758T>A	c.(757-759)cTt>cAt	p.L253H	OLAH_ENST00000378228.3_Missense_Mutation_p.L200H|OLAH_ENST00000485251.1_Intron	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	200					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AAGGCTGTTCTTTCCTGTGAC	0.343													21	67					0	0	0	0	A	15113820	T	A	15113820	3	1	192	1	0	0	0	0	1	0	0	0	10922	1609	56	5	784	5	OLAH	10	15113820	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08		15113820	120420927	257	33767											
CUBN	8029	broad.mit.edu	37	chr10	17127685	17127685	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaaggggccagtagtcTggagcggtgggacagagaaa	12	5	18	6	1	1	1	0	0	1	1	1	4	1	3	1	6	1	2	1	6	3	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:17127685T>A	ENST00000377833.4	-	16	2086	c.2021A>T	c.(2020-2022)cAg>cTg	p.Q674L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	674	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCAGTAGTCTGGAGCGGTGG	0.458													26	84					0	0	0	0	A	17127685	T	A	17127685	3	1	192	1	0	0	0	0	1	0	0	0	4083	1580	55	5	9058	5	CUBN	10	17127685	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	2013865	17127685	118407062	258	33768											
PTCHD3	374308	broad.mit.edu	37	chr10	27687958	27687958	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttataaaaatagcaaaataaCagggtcattcctgtatagat	18	12	6	5	0	1	1	1	0	0	1	2	1	2	1	1	1	2	2	1	1	10	7			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:27687958C>A	ENST00000438700.3	-	4	1686	c.1569G>T	c.(1567-1569)ctG>ctT	p.L523L		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	523	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGCAAAATAACAGGGTCATTC	0.388													18	69					0.000958276	0.0010732	1	0	A	27687958	C	A	27687958	2	1	192	1	0	0	0	0	0	0	0	1	12813	465	17	4		4	PTCHD3	10	27687958	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	10560273	27687958	107846789	259	33769											
PTCHD3	374308	broad.mit.edu	37	chr10	27702471	27702471	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgccacgcgcagatcctGcaccgcgccgtccagtttgc	5	6	11	19	7	0	1	0	0	0	1	2	1	2	1	6	0	2	3	6	0	0	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:27702471G>A	ENST00000438700.3	-	1	826	c.709C>T	c.(709-711)Cag>Tag	p.Q237*		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	237					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGCAGATCCTGCACCGCGCCG	0.617													6	53					0	0	0	0	A	27702471	G	A	27702471	4	1	192	1	0	0	0	0	0	1	0	0	12813	1328	46	4	1610	4	PTCHD3	10	27702471	Nonsense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	14513	27702471	107832276	260	33770											
RBP3	5949	broad.mit.edu	37	chr10	48389293	48389293	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgttgggtgctgtagcgtgGgcccgggagctccatgtggc	4	9	18	10	3	0	0	0	0	0	0	1	1	1	1	2	4	3	4	2	4	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:48389293G>C	ENST00000224600.4	-	1	1698	c.1585C>G	c.(1585-1587)Cca>Gca	p.P529A		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	529	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTGTAGCGTGGGCCCGGGAGC	0.667													13	67					0	0	0	0	C	48389293	G	C	48389293	3	2	192	1	0	0	0	0	1	0	0	0	13239	1232	43	4	2174	4	RBP3	10	48389293	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	20686822	48389293	87145454	261	33771											
CHAT	1103	broad.mit.edu	37	chr10	50870701	50870701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aactacacaggccataacagGgatggccattgacaaccacc	15	5	8	13	0	0	1	0	1	0	0	0	2	0	2	4	3	4	0	4	3	4	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50870701G>A	ENST00000395562.2	+	15	2073	c.1604G>A	c.(1603-1605)gGg>gAg	p.G535E	CHAT_ENST00000455728.2_Missense_Mutation_p.G499E|CHAT_ENST00000351556.3_Missense_Mutation_p.G499E|CHAT_ENST00000339797.1_Missense_Mutation_p.G499E|CHAT_ENST00000395559.2_Missense_Mutation_p.G499E|CHAT_ENST00000337653.2_Missense_Mutation_p.G617E	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	617					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCCATAACAGGGATGGCCATT	0.572													36	84					0	0	0	0	A	50870701	G	A	50870701	3	1	192	1	0	0	0	0	1	0	0	0	3342	1232	43	4	1948	4	CHAT	10	50870701	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2481408	50870701	84664046	262	33772											
C10orf53	282966	broad.mit.edu	37	chr10	50916545	50916545	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggacctgacttgtactgTattggcccagattggatcat	9	12	10	10	0	1	2	1	1	0	1	1	4	1	4	3	3	1	2	3	3	2	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50916545T>A	ENST00000374112.3	+	3	368	c.356T>A	c.(355-357)gTa>gAa	p.V119E	C10orf53_ENST00000535836.1_Missense_Mutation_p.V119E	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				acttgtactgtattggcccag	0.488													61	165					0	0	0	0	A	50916545	T	A	50916545	3	1	192	1	0	0	0	0	1	0	0	0	1616	1638	57	5	435	5	C10orf53	10	50916545	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	45844	50916545	84618202	263	33773											
OGDHL	55753	broad.mit.edu	37	chr10	50964873	50964873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtcctccaccaatttGctggtcttggtccgacttga	6	13	11	11	1	1	1	0	1	1	0	4	2	4	1	4	4	1	1	4	4	1	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50964873G>T	ENST00000374103.4	-	3	409	c.324C>A	c.(322-324)agC>agA	p.S108R	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	108					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCACCAATTTGCTGGTCTTGG	0.632													28	46					3.65163e-15	5.18744e-15	1	0	T	50964873	G	T	50964873	3	4	192	1	0	0	0	0	1	0	0	0	10911	1310	46	4	2792	4	OGDHL	10	50964873	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	48328	50964873	84569874	264	33774											
AGAP6	414189	broad.mit.edu	37	chr10	51768720	51768720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgacaccatcgggagcGgtagagccatccccattaaa	12	7	10	12	2	0	2	0	1	0	1	2	3	1	3	4	2	3	2	4	2	3	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:51768720G>A	ENST00000374056.4	+	7	1164	c.766G>A	c.(766-768)Ggt>Agt	p.G256S	AGAP6_ENST00000412531.3_Missense_Mutation_p.G279S			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	279					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G279C(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CATCGGGAGCGGTAGAGCCAT	0.512													71	339					0	0	0	0	A	51768720	G	A	51768720	3	1	192	1	0	0	0	0	1	0	0	0	372	1116	39	1	865	1	AGAP6	10	51768720	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	803847	51768720	83766027	265	33775											
SUPV3L1	6832	broad.mit.edu	37	chr10	70962202	70962202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttttactaaaaggcagctgGtcttcatccaactgctgagc	10	12	8	11	0	2	1	1	1	1	0	3	1	3	1	1	2	5	3	1	2	4	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:70962202G>A	ENST00000359655.4	+	12	1586	c.1526G>A	c.(1525-1527)gGt>gAt	p.G509D		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	509	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGGCAGCTGGTCTTCATCCA	0.363													31	59					0	0	0	0	A	70962202	G	A	70962202	3	1	192	1	0	0	0	0	1	0	0	0	15492	1261	44	4	1572	4	SUPV3L1	10	70962202	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	19193482	70962202	64572545	266	33776											
SFTPA1	653509	broad.mit.edu	37	chr10	81372067	81372067	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtctcttttctctgcaGgccccatgggtccacctgga	5	12	9	15	0	2	0	0	0	2	0	5	1	3	1	5	3	1	1	5	3	0	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:81372067G>T	ENST00000398636.3	+	4	310		c.e4-1		SFTPA1_ENST00000419470.2_Splice_Site|SFTPA1_ENST00000372308.3_Splice_Site|SFTPA1_ENST00000428376.2_Splice_Site|SFTPA1_ENST00000372313.5_Splice_Site	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1						cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TTTCTCTGCAGGCCCCATGGG	0.567													100	264					7.59261e-44	1.22368e-43	1	0	T	81372067	G	T	81372067	5	4	192	1	0	0	0	0	0	0	1	0	14276	1014	35	4	227	4	SFTPA1	10	81372067	Splice_Site	SNP	G	TCGA-CR-7364-01A-11D-2012-08	10409865	81372067	54162680	267	33777											
MINPP1	9562	broad.mit.edu	37	chr10	89264702	89264702	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgcccggctgcctcctccgGacctccgtagcgcctgccgc	2	6	12	21	6	0	0	0	0	0	0	3	1	3	1	8	2	3	2	8	2	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:89264702G>T	ENST00000371996.4	+	1	71	c.30G>T	c.(28-30)cgG>cgT	p.R10R	MINPP1_ENST00000371994.4_Silent_p.R10R	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	10					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GCCTCCTCCGGACCTCCGTAG	0.731													6	23					0.00116845	0.00130398	1	0	T	89264702	G	T	89264702	2	4	192	1	0	0	0	0	0	0	0	1	9657	1161	41	2		2	MINPP1	10	89264702	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	7892635	89264702	46270045	268	33778											
FAS	355	broad.mit.edu	37	chr10	90768682	90768682	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactgcacccggacccagaAtaccaagtgcagatgtaaac	16	5	8	12	1	0	2	0	0	0	2	0	3	0	3	3	1	5	3	3	1	6	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:90768682A>G	ENST00000355740.2	+	4	591	c.371A>G	c.(370-372)aAt>aGt	p.N124S	FAS_ENST00000355279.2_Missense_Mutation_p.N124S|FAS_ENST00000357339.2_Missense_Mutation_p.N124S|FAS_ENST00000352159.4_Missense_Mutation_p.N124S|FAS_ENST00000313771.5_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	124					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		CGGACCCAGAATACCAAGTGC	0.363													136	359					0	0	0	0	G	90768682	A	G	90768682	3	3	192	1	0	0	0	0	1	0	0	0	5726	101	4	5	385	5	FAS	10	90768682	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	1503980	90768682	44766065	269	33779											
LOXL4	84171	broad.mit.edu	37	chr10	100012126	100012126	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctgtggggcagtttgtGtcctccagacagaagctggc	8	10	13	10	0	0	2	0	0	0	2	2	2	2	2	3	3	2	3	3	3	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:100012126G>A	ENST00000260702.3	-	12	2085	c.1935C>T	c.(1933-1935)gaC>gaT	p.D645D	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	645	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGCAGTTTGTGTCCTCCAGAC	0.537													47	111					0	0	0	0	A	100012126	G	A	100012126	2	1	192	1	0	0	0	0	0	0	0	1	8966	1368	48	4		4	LOXL4	10	100012126	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	9243444	100012126	35522621	270	33780											
FAM178A	55719	broad.mit.edu	37	chr10	102684054	102684054	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccaagtggcaggtaccaaGgagactaagatgcagaaacc	16	5	11	9	0	0	3	0	0	0	3	1	4	1	3	3	3	3	3	3	3	5	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:102684054G>A	ENST00000238961.3	+	5	1444	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	FAM178A_ENST00000370271.3_Silent_p.K432K|FAM178A_ENST00000370269.3_Silent_p.K432K	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	432																	CAGGTACCAAGGAGACTAAGA	0.443													50	139					0	0	0	0	A	102684054	G	A	102684054	2	1	192	1	0	0	0	0	0	0	0	1	5544	991	35	4		4	FAM178A	10	102684054	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2671928	102684054	32850693	271	33781											
NRAP	4892	broad.mit.edu	37	chr10	115381802	115381802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcattgggatttggtgtcCtcgaatcccttcttgtactc	5	16	10	10	1	1	0	0	0	1	0	5	2	3	1	2	3	1	2	2	3	2	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:115381802C>A	ENST00000369358.4	-	24	2863	c.2619G>T	c.(2617-2619)gaG>gaT	p.E873D	NRAP_ENST00000359988.3_Missense_Mutation_p.E865D|NRAP_ENST00000360478.3_Missense_Mutation_p.E830D|NRAP_ENST00000369360.3_Missense_Mutation_p.E838D			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	865						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATTTGGTGTCCTCGAATCCCT	0.532													35	66					4.62619e-21	6.99436e-21	1	0	A	115381802	C	A	115381802	3	1	192	1	0	0	0	0	1	0	0	0	10709	680	24	4	2673	4	NRAP	10	115381802	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	12697748	115381802	20152945	272	33782											
ATRNL1	26033	broad.mit.edu	37	chr10	116975564	116975564	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccatttatgttcatggaggGtataaagcattgccagggaa	12	12	11	6	0	1	0	1	0	0	0	2	2	2	2	2	3	2	3	2	3	5	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:116975564G>A	ENST00000355044.3	+	9	1584	c.1458G>A	c.(1456-1458)ggG>ggA	p.G486G		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	486						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTCATGGAGGGTATAAAGCAT	0.353													10	24					0	0	0	0	A	116975564	G	A	116975564	2	1	192	1	0	0	0	0	0	0	0	1	1211	1248	44	4		4	ATRNL1	10	116975564	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1593762	116975564	18559183	273	33783											
FAM24A	118670	broad.mit.edu	37	chr10	124672281	124672281	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtcttttcttaagagcTgcaaaggaccctgatgctgt	8	14	11	8	0	2	2	0	1	2	1	2	3	2	3	1	1	3	3	1	1	2	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:124672281T>A	ENST00000368894.1	+	3	250	c.129T>A	c.(127-129)gcT>gcA	p.A43A		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	43						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TCTTAAGAGCTGCAAAGGACC	0.473													29	66					0	0	0	0	A	124672281	T	A	124672281	2	1	192	1	0	0	0	0	0	0	0	1	5591	1567	55	5		5	FAM24A	10	124672281	Silent	SNP	T	TCGA-CR-7364-01A-11D-2012-08	7696717	124672281	10862466	274	33784											
CTBP2	1488	broad.mit.edu	37	chr10	126715632	126715632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctgaactggggtccacaaCcaggcacgtcggggccacct	9	5	13	14	2	0	1	0	1	0	0	2	1	1	1	4	5	3	2	4	5	2	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:126715632C>G	ENST00000309035.6	-	1	827	c.697G>C	c.(697-699)Gtt>Ctt	p.V233L	CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000494626.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	391					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGGTCCACAACCAGGCACGTC	0.677													38	73					0	0	0	0	G	126715632	C	G	126715632	3	3	192	1	0	0	0	0	1	0	0	0	4030	507	18	4	2296	4	CTBP2	10	126715632	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	2043351	126715632	8819115	275	33785											
C10orf137	26098	broad.mit.edu	37	chr10	127411642	127411642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttctctttggtagctttgGcatggcatatgactttattg	6	20	9	6	0	1	1	0	1	1	0	2	1	1	1	0	3	1	4	0	3	3	9			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:127411642G>A	ENST00000337623.3	+	3	428	c.323G>A	c.(322-324)gGc>gAc	p.G108D	C10orf137_ENST00000356792.4_Missense_Mutation_p.G108D	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGTAGCTTTGGCATGGCATAT	0.378													36	130					0	0	0	0	A	127411642	G	A	127411642	3	1	192	1	0	0	0	0	1	0	0	0	1604	1203	42	4	333	4	C10orf137	10	127411642	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	696010	127411642	8123105	276	33786											
TCERG1L	256536	broad.mit.edu	37	chr10	132965138	132965138	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccactcggccccgctcTgtccttgtatctgttgggcc	2	11	12	16	3	2	0	0	0	2	0	4	0	3	0	5	3	0	3	5	3	1	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:132965138T>C	ENST00000368642.4	-	5	952	c.867A>G	c.(865-867)acA>acG	p.T289T		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	289										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GGCCCCGCTCTGTCCTTGTAT	0.527													7	32					0	0	0	0	C	132965138	T	C	132965138	2	2	192	1	0	0	0	0	0	0	0	1	15780	1567	55	5		5	TCERG1L	10	132965138	Silent	SNP	T	TCGA-CR-7364-01A-11D-2012-08	5553496	132965138	2569609	277	33787											
KNDC1	85442	broad.mit.edu	37	chr10	135024220	135024220	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgaccgcatcaacagcacGctgaccaggtaccaagctcc	11	5	8	17	3	1	1	1	1	0	0	3	2	2	1	4	1	4	5	4	1	3	1	rs144385432		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:135024220G>T	ENST00000304613.3	+	21	3921	c.3900G>T	c.(3898-3900)acG>acT	p.T1300T	KNDC1_ENST00000368572.2_Silent_p.T1302T			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1300	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCAACAGCACGCTGACCAGGT	0.612													36	112					9.8876e-21	1.48081e-20	1	0	T	135024220	G	T	135024220	2	4	192	1	0	0	0	0	0	0	0	1	8478	1074	38	3		3	KNDC1	10	135024220	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2059082	135024220	510527	278	33788											
OR51A2	401667	broad.mit.edu	37	chr11	4976784	4976784	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccatgcaaggagggctCtgtcttgatgataaaaagaa	13	8	13	7	0	2	3	0	2	2	1	2	4	2	4	1	3	1	2	1	3	5	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:4976784C>A	ENST00000380371.1	-	1	159	c.160G>T	c.(160-162)Gag>Tag	p.E54*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGGAGGGCTCTGTCTTGATG	0.428													20	22					2.89027e-11	3.88839e-11	1	0	A	4976784	C	A	4976784	4	1	192	1	0	0	0	0	0	1	0	0	11157	922	32	2	783	2	OR51A2	11	4976784	Nonsense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08		4976784	130029732	279	33789											
OR52A1	23538	broad.mit.edu	37	chr11	5173083	5173083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggagatgactgttgtgtGataaaattgaaaccggcact	12	11	13	5	1	0	4	0	3	0	1	0	5	0	4	1	2	1	2	1	2	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5173083G>A	ENST00000380367.1	-	2	934	c.517C>T	c.(517-519)Cac>Tac	p.H173Y	OR52A1_ENST00000328942.1_Missense_Mutation_p.H173Y			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	173					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGTTGTGTGATAAAATTGA	0.443													31	55					0	0	0	0	A	5173083	G	A	5173083	3	1	192	1	0	0	0	0	1	0	0	0	11179	1290	45	2	423	2	OR52A1	11	5173083	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	196299	5173083	129833433	280	33790											
OR51B5	282763	broad.mit.edu	37	chr11	5364443	5364443	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagactcgagaaaggaaagTgagtgtataaagtaggcctg	15	7	13	6	1	0	3	0	1	0	2	1	5	0	4	2	2	0	2	2	2	6	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5364443T>A	ENST00000300773.2	-	1	366	c.312A>T	c.(310-312)tcA>tcT	p.S104S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAGGAAAGTGAGTGTATAA	0.507													14	49					0	0	0	0	A	5364443	T	A	5364443	2	1	192	1	0	0	0	0	0	0	0	1	11162	1683	59	5		5	OR51B5	11	5364443	Silent	SNP	T	TCGA-CR-7364-01A-11D-2012-08	191360	5364443	129642073	281	33791											
OR51I2	390064	broad.mit.edu	37	chr11	5474910	5474910	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtactacttcctgtcCatgttgtccttcagtgatgt	6	16	7	12	0	1	1	1	1	0	0	4	1	4	1	4	0	2	2	4	0	2	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5474910C>A	ENST00000341449.2	+	1	273	c.192C>A	c.(190-192)tcC>tcA	p.S64S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTCCTGTCCATGTTGTCCT	0.547													33	85					9.65021e-13	1.32638e-12	1	0	A	5474910	C	A	5474910	2	1	192	1	0	0	0	0	0	0	0	1	11172	581	21	4		4	OR51I2	11	5474910	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	110467	5474910	129531606	282	33792											
OR52H1	390067	broad.mit.edu	37	chr11	5566075	5566075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagcacagaggatgtgtgCgtaggaaacagcaatgagaa	16	5	14	6	1	0	2	0	1	0	2	0	6	0	4	0	2	4	3	0	2	4	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5566075C>T	ENST00000322653.4	-	1	704	c.679G>A	c.(679-681)Gca>Aca	p.A227T	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A227T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATGTGTGCGTAGGAAACA	0.498													16	44					0	0	0	0	T	5566075	C	T	5566075	3	4	192	1	0	0	0	0	1	0	0	0	11190	768	27	1	286	1	OR52H1	11	5566075	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	91165	5566075	129440441	283	33793											
OR56B1	387748	broad.mit.edu	37	chr11	5757697	5757697	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtggtggttccaaccTgtgataactgagaacaatac	11	13	9	8	0	1	2	0	2	1	1	2	3	2	2	2	2	4	1	2	2	5	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5757697T>A	ENST00000317121.3	+	0	17				TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GGTTCCAACCTGTGATAACTG	0.313											OREG0003731	type=REGULATORY REGION|Gene=OR56B1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	47					0	0	0	0	A	5757697	T	A	5757697	1	1	192	1	0	0	0	0	0	0	0	0	11208	1595	55	5		5	OR56B1	11	5757697	Translation_Start_Site	SNP	T	TCGA-CR-7364-01A-11D-2012-08	191622	5757697	129248819	284	33794											
OR10A6	390093	broad.mit.edu	37	chr11	7949914	7949914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggatgaaatacatctgtGcaaaacagcccccaaaagaa	19	5	8	9	0	1	2	0	1	1	1	1	4	1	3	2	1	4	1	2	1	8	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:7949914G>T	ENST00000309838.2	-	1	295	c.296C>A	c.(295-297)gCa>gAa	p.A99E		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATACATCTGTGCAAAACAGCC	0.428													21	59					2.32416e-17	3.40841e-17	1	0	T	7949914	G	T	7949914	3	4	192	1	0	0	0	0	1	0	0	0	10965	1319	46	4	651	4	OR10A6	11	7949914	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2192217	7949914	127056602	285	33795											
BBOX1	8424	broad.mit.edu	37	chr11	27147273	27147273	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacaatatttgatgtgccTgttgaaagagttcagccttt	11	14	9	7	0	1	3	1	2	0	1	1	4	1	3	2	0	2	2	2	0	3	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:27147273T>A	ENST00000263182.3	+	8	1277	c.909T>A	c.(907-909)ccT>ccA	p.P303P	RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000528583.1_Silent_p.P303P|BBOX1_ENST00000529202.1_Silent_p.P303P|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Silent_p.P303P|RP11-1L12.3_ENST00000530430.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	303					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	ttgatgtgcctgttgaaagag	0.373													3	12					0	0	0	0	A	27147273	T	A	27147273	2	1	192	1	0	0	0	0	0	0	0	1	1338	1567	55	5		5	BBOX1	11	27147273	Silent	SNP	T	TCGA-CR-7364-01A-11D-2012-08	19197359	27147273	107859243	286	33796											
CCDC34	91057	broad.mit.edu	37	chr11	27379017	27379017	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caataaaccacacctcccatGgtgtcaggcggctttctggt	9	10	9	13	1	2	0	1	0	1	0	3	0	3	0	3	4	1	1	3	4	3	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:27379017G>C	ENST00000317945.6	-	2	470	c.431C>G	c.(430-432)cCa>cGa	p.P144R	CCDC34_ENST00000328697.6_Missense_Mutation_p.P144R	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	144										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CACCTCCCATGGTGTCAGGCG	0.418													34	61					0	0	0	0	C	27379017	G	C	27379017	3	2	192	1	0	0	0	0	1	0	0	0	2833	1348	47	4	794	4	CCDC34	11	27379017	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	231744	27379017	107627499	287	33797											
TCP11L1	55346	broad.mit.edu	37	chr11	33094117	33094117	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtccagttcagagagaGctggaggaagttgctattaa	12	10	12	7	0	2	2	2	0	0	2	3	5	3	4	1	2	2	4	1	2	3	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:33094117G>A	ENST00000334274.4	+	10	1825	c.1425G>A	c.(1423-1425)gaG>gaA	p.E475E	TCP11L1_ENST00000324357.9_Silent_p.E254E|TCP11L1_ENST00000432887.1_Silent_p.E475E|TCP11L1_ENST00000531632.2_Silent_p.E475E	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	475										kidney(1)|liver(2)|lung(2)|skin(1)	6						TTCAGAGAGAGCTGGAGGAAG	0.493													47	124					0	0	0	0	A	33094117	G	A	33094117	2	1	192	1	0	0	0	0	0	0	0	1	15808	962	34	4		4	TCP11L1	11	33094117	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	5715100	33094117	101912399	288	33798											
PDHX	8050	broad.mit.edu	37	chr11	34988233	34988233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaaacgggcaagattaccGagtccagaccaactccagcc	15	4	8	14	2	0	2	0	0	0	2	2	3	2	2	5	1	5	1	5	1	5	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:34988233G>A	ENST00000448838.3	+	6	885	c.643G>A	c.(643-645)Gag>Aag	p.E215K	PDHX_ENST00000430469.2_Intron|PDHX_ENST00000227868.4_Missense_Mutation_p.E230K	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	230					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CAAGATTACCGAGTCCAGACC	0.502													47	86					0	0	0	0	A	34988233	G	A	34988233	3	1	192	1	0	0	0	0	1	0	0	0	11738	1059	37	1	829	1	PDHX	11	34988233	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1894116	34988233	100018283	289	33799											
PAMR1	25891	broad.mit.edu	37	chr11	35463127	35463127	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagttgttacaaaagaaaGacaccacggtgccaatttta	16	9	9	7	1	0	2	0	0	0	2	0	3	0	3	2	2	2	2	2	2	6	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:35463127G>C	ENST00000378880.2	-	7	1380	c.935C>G	c.(934-936)tCt>tGt	p.S312C	PAMR1_ENST00000278360.3_Missense_Mutation_p.S329C|PAMR1_ENST00000378878.3_Missense_Mutation_p.S201C|PAMR1_ENST00000532848.1_Missense_Mutation_p.S272C	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	312	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ACAAAAGAAAGACACCACGGT	0.493													37	99					0	0	0	0	C	35463127	G	C	35463127	3	2	192	1	0	0	0	0	1	0	0	0	11484	942	33	2	1247	2	PAMR1	11	35463127	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	474894	35463127	99543389	290	33800											
LRRC4C	57689	broad.mit.edu	37	chr11	40137641	40137641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgccatccggaacctcacGcaggtttttccgaacacaaa	12	8	8	13	3	1	0	1	0	0	0	3	3	3	1	4	2	3	2	4	2	3	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:40137641G>C	ENST00000278198.2	-	2	2165	c.202C>G	c.(202-204)Cgt>Ggt	p.R68G	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R68G|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R68G|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R68G			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	68	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGAACCTCACGCAGGTTTTTC	0.527													20	47					0	0	0	0	C	40137641	G	C	40137641	3	2	192	1	0	0	0	0	1	0	0	0	9072	1087	38	3	1724	3	LRRC4C	11	40137641	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4674514	40137641	94868875	291	33801											
ARFGAP2	84364	broad.mit.edu	37	chr11	47197400	47197400	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggaagtagaaggagctttAccgcattggcattcccgccg	10	8	13	10	3	0	1	0	0	0	1	1	3	1	3	3	3	2	4	3	3	4	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:47197400A>T	ENST00000524782.1	-	3	493		c.e3+1		ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000426335.2_Splice_Site|ARFGAP2_ENST00000395449.3_Splice_Site|ARFGAP2_ENST00000419701.2_Splice_Site	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2						protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AAGGAGCTTTACCGCATTGGC	0.537													9	34					0	0	0	0	T	47197400	A	T	47197400	5	4	192	1	0	0	0	0	0	0	1	0	852	405	14	5	1355	5	ARFGAP2	11	47197400	Splice_Site	SNP	A	TCGA-CR-7364-01A-11D-2012-08	7059759	47197400	87809116	292	33802											
MADD	8567	broad.mit.edu	37	chr11	47311587	47311587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaggacgatgcccggcagGacatcatcccggatgtggtc	9	6	14	12	3	1	1	1	0	0	1	3	5	2	4	2	5	1	1	2	5	0	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:47311587G>T	ENST00000342922.4	+	17	3283	c.2926G>T	c.(2926-2928)Gac>Tac	p.D976Y	MADD_ENST00000406482.1_Missense_Mutation_p.D933Y|MADD_ENST00000402192.2_Missense_Mutation_p.D976Y|MADD_ENST00000311027.5_Missense_Mutation_p.D996Y|MADD_ENST00000402799.1_Missense_Mutation_p.D933Y|MADD_ENST00000349238.3_Missense_Mutation_p.D996Y|MADD_ENST00000395336.3_Missense_Mutation_p.D996Y|MADD_ENST00000395344.3_Missense_Mutation_p.D933Y|MADD_ENST00000407859.3_Missense_Mutation_p.D953Y	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	996					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGCCCGGCAGGACATCATCCC	0.587													18	49					5.3912e-06	6.36322e-06	1	0	T	47311587	G	T	47311587	3	4	192	1	0	0	0	0	1	0	0	0	9217	1174	41	2	3052	2	MADD	11	47311587	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	114187	47311587	87694929	293	33803											
OR5L1	219437	broad.mit.edu	37	chr11	55579097	55579097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgcactgattcaggtcaGctctcggctccacaccccca	8	9	8	16	1	3	1	2	1	1	0	5	2	4	1	3	2	2	3	3	2	0	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:55579097G>T	ENST00000333973.2	+	1	244	c.155G>T	c.(154-156)aGc>aTc	p.S52I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S52N(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATTCAGGTCAGCTCTCGGCTC	0.478													84	230					1.32764e-51	2.15614e-51	1	0	T	55579097	G	T	55579097	3	4	192	1	0	0	0	0	1	0	0	0	11241	971	34	4	157	4	OR5L1	11	55579097	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	8267510	55579097	79427419	294	33804											
OR8J1	219477	broad.mit.edu	37	chr11	56128025	56128025	+	Frame_Shift_Del	DEL	G	G	-																															tatgaatgtgccacccaactGggagggttcttgttctttat																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:56128025delG	ENST00000303039.3	+	1	335	c.303delG	c.(301-303)ctfs	p.L101fs		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CCACCCAACTGGGAGGGTTCT	0.413													38	89	---	---	---	---					-	56128025	G	-	56128025	7	5	192	1	0	1	0	1	0	0	0	0	11312	1335	47	0	305	0	OR8J1	11	56128025	Frame_Shift_Del	DEL	G	TCGA-CR-7364-01A-11D-2012-08	548928	56128025	78878491	295	33805											
CTNND1	1500	broad.mit.edu	37	chr11	57559055	57559055	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgctggaggaggaacggcgCcacgtctcggcgcagctgga	7	4	18	12	6	1	0	0	0	1	0	2	4	1	4	1	6	2	3	1	6	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:57559055C>G	ENST00000524630.1	+	3	618	c.105C>G	c.(103-105)cgC>cgG	p.R35R	CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000361391.6_Silent_p.R35R|CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000358694.6_Silent_p.R35R|CTNND1_ENST00000532463.1_Intron|TMX2-CTNND1_ENST00000528395.1_3'UTR|CTNND1_ENST00000526938.1_Silent_p.R35R|RP11-691N7.6_ENST00000531074.1_3'UTR|CTNND1_ENST00000532844.1_5'UTR|CTNND1_ENST00000361332.4_Silent_p.R35R|CTNND1_ENST00000415361.2_Intron|CTNND1_ENST00000399039.4_Silent_p.R35R|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000529919.1_Silent_p.R35R|CTNND1_ENST00000532649.1_5'UTR|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000428599.2_Silent_p.R35R|CTNND1_ENST00000529526.1_5'UTR|CTNND1_ENST00000534579.1_5'UTR|CTNND1_ENST00000528621.1_5'UTR|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000361796.4_Silent_p.R35R|CTNND1_ENST00000526357.1_5'UTR|CTNND1_ENST00000360682.6_Silent_p.R35R|CTNND1_ENST00000530748.1_5'UTR|CTNND1_ENST00000529873.1_5'UTR|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000399050.4_Silent_p.R35R|CTNND1_ENST00000527467.1_Intron			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	35					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGGAACGGCGCCACGTCTCGG	0.637													9	30					0	0	0	0	G	57559055	C	G	57559055	2	3	192	1	0	0	0	0	0	0	0	1	4051	726	26	4		4	CTNND1	11	57559055	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1431030	57559055	77447461	296	33806											
OR6Q1	219952	broad.mit.edu	37	chr11	57799217	57799217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttctttatgtatgtcCagaccaaggtgacctcctcc	7	15	6	13	0	2	2	0	1	2	1	5	2	5	2	5	1	0	1	5	1	3	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:57799217C>A	ENST00000302622.3	+	1	816	c.793C>A	c.(793-795)Cag>Aag	p.Q265K	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TATGTATGTCCAGACCAAGGT	0.502													52	147					1.11015e-26	1.72358e-26	1	0	A	57799217	C	A	57799217	3	1	192	1	0	0	0	0	1	0	0	0	11279	595	21	4	795	4	OR6Q1	11	57799217	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	240162	57799217	77207299	297	33807											
DTX4	23220	broad.mit.edu	37	chr11	58972335	58972335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ataatgtgctggctgaactgGctgcccagggcatctctgag	8	10	13	10	0	1	2	0	2	1	0	2	2	1	2	1	3	3	4	1	3	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:58972335G>A	ENST00000227451.3	+	9	1917	c.1813G>A	c.(1813-1815)Gct>Act	p.A605T	DTX4_ENST00000532982.1_Missense_Mutation_p.A499T	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	605					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GGCTGAACTGGCTGCCCAGGG	0.552													4	13					0	0	0	0	A	58972335	G	A	58972335	3	1	192	1	0	0	0	0	1	0	0	0	4833	1203	42	4	1847	4	DTX4	11	58972335	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1173118	58972335	76034181	298	33808											
AHNAK	79026	broad.mit.edu	37	chr11	62297619	62297619	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaccttcaatattcacatCtggaacttcagcatccattt	11	14	5	11	0	4	0	3	0	1	0	5	2	5	2	2	2	2	1	2	2	3	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:62297619C>G	ENST00000378024.4	-	5	4544	c.4270G>C	c.(4270-4272)Gat>Cat	p.D1424H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1424					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATATTCACATCTGGAACTTCA	0.468													81	228					0	0	0	0	G	62297619	C	G	62297619	3	3	192	1	0	0	0	0	1	0	0	0	414	913	32	2	13522	2	AHNAK	11	62297619	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	3325284	62297619	72708897	299	33809											
GANAB	23193	broad.mit.edu	37	chr11	62393907	62393907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatccagaaagagctctcCttgagctgtaccctgagcaa	12	9	8	12	0	2	4	1	2	1	2	4	4	3	4	3	0	4	4	3	0	3	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:62393907C>T	ENST00000346178.4	-	23	2605	c.2590G>A	c.(2590-2592)Gga>Aga	p.G864R	GANAB_ENST00000540933.1_Missense_Mutation_p.G745R|GANAB_ENST00000356638.3_Missense_Mutation_p.G842R|GANAB_ENST00000534779.1_Missense_Mutation_p.G750R	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	842					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						AAGAGCTCTCCTTGAGCTGTA	0.557													20	50					0	0	0	0	T	62393907	C	T	62393907	3	4	192	1	0	0	0	0	1	0	0	0	6282	690	24	4	322	4	GANAB	11	62393907	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	96288	62393907	72612609	300	33810											
KCNK7	10089	broad.mit.edu	37	chr11	65360635	65360635	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgcggcagctcagagaaGgtctccactgccagcagcat	10	6	11	14	1	2	1	1	0	1	1	3	2	2	1	3	2	5	4	3	2	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:65360635G>C	ENST00000340313.4	-	3	988	c.765C>G	c.(763-765)acC>acG	p.T255T	KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	255						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						GCTCAGAGAAGGTCTCCACTG	0.612													6	20					0	0	0	0	C	65360635	G	C	65360635	2	2	192	1	0	0	0	0	0	0	0	1	8124	987	35	4		4	KCNK7	11	65360635	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2966728	65360635	69645881	301	33811											
RELA	5970	broad.mit.edu	37	chr11	65421990	65421990	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggggcctctgggccccTgtcactaggcgagttatagc	5	9	15	12	2	2	0	1	0	1	0	3	1	2	0	3	5	1	1	3	5	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:65421990T>A	ENST00000406246.3	-	11	1776	c.1515A>T	c.(1513-1515)acA>acT	p.T505T	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Silent_p.T502T	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	505					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TCTGGGCCCCTGTCACTAGGC	0.632													17	42					0	0	0	0	A	65421990	T	A	65421990	2	1	192	1	0	0	0	0	0	0	0	1	13298	1567	55	5		5	RELA	11	65421990	Silent	SNP	T	TCGA-CR-7364-01A-11D-2012-08	61355	65421990	69584526	302	33812											
ACY3	91703	broad.mit.edu	37	chr11	67414349	67414349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcggcagccggatgtggctgCcgggttggccagcacaggca	6	5	18	12	3	0	0	0	0	0	0	0	1	0	1	3	6	3	5	3	6	0	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:67414349C>G	ENST00000255082.3	-	3	336	c.166G>C	c.(166-168)Gca>Cca	p.A56P	ACY3_ENST00000529256.1_5'UTR	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	56					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GATGTGGCTGCCGGGTTGGCC	0.657													4	19					0	0	0	0	G	67414349	C	G	67414349	3	3	192	1	0	0	0	0	1	0	0	0	227	739	26	4	817	4	ACY3	11	67414349	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1992359	67414349	67592167	303	33813											
SUV420H1	51111	broad.mit.edu	37	chr11	67926430	67926430	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagcattcttttgctcCagccgcttgcaatgatttct	7	16	7	11	1	2	2	0	2	2	0	3	2	3	2	2	0	4	4	2	0	2	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:67926430C>T	ENST00000304363.4	-	11	1736	c.1383G>A	c.(1381-1383)ctG>ctA	p.L461L		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TCTTTTGCTCCAGCCGCTTGC	0.348													16	69					0	0	0	0	T	67926430	C	T	67926430	2	4	192	1	0	0	0	0	0	0	0	1	15504	581	21	4		4	SUV420H1	11	67926430	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	512081	67926430	67080086	304	33814											
EED	8726	broad.mit.edu	37	chr11	85977217	85977217	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagagaatgatgaatgcAattaaggaatcttatgatta	18	12	8	3	0	2	4	1	3	1	1	2	6	2	5	0	1	1	1	0	1	8	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:85977217A>T	ENST00000263360.6	+	8	1505	c.819A>T	c.(817-819)gcA>gcT	p.A273A	EED_ENST00000528180.1_Intron|EED_ENST00000351625.6_Silent_p.A273A|EED_ENST00000327320.4_Silent_p.A273A	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	273	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TGATGAATGCAATTAAGGAAT	0.299													24	91					0	0	0	0	T	85977217	A	T	85977217	2	4	192	1	0	0	0	0	0	0	0	1	4958	117	5	5		5	EED	11	85977217	Silent	SNP	A	TCGA-CR-7364-01A-11D-2012-08	18050787	85977217	49029299	305	33815											
FOLH1B	219595	broad.mit.edu	37	chr11	89402587	89402587	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacagaaaaatgggtggctCagcaccaccagatagcagct	15	5	10	11	0	1	2	1	0	0	2	1	2	1	2	2	2	4	4	2	2	4	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:89402587C>T	ENST00000532352.1	+	0	824							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATGGGTGGCTCAGCACCACCA	0.378													15	37					0	0	0	0	T	89402587	C	T	89402587	1	4	192	0	1	0	0	0	0	0	0	0	6025	838	29	2		2	FOLH1B	11	89402587	RNA	SNP	C	TCGA-CR-7364-01A-11D-2012-08	3425370	89402587	45603929	306	33816											
HEPHL1	341208	broad.mit.edu	37	chr11	93797618	93797618	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatcaaacatttctgcacCaaccctgattcagttgacaa	15	11	4	11	0	3	2	2	2	1	0	3	2	3	2	2	0	3	2	2	0	5	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:93797618C>A	ENST00000315765.9	+	4	758	c.750C>A	c.(748-750)acC>acA	p.T250T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	250	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATTTCTGCACCAACCCTGATT	0.408													12	27					0.00185496	0.00205926	1	0	A	93797618	C	A	93797618	2	1	192	1	0	0	0	0	0	0	0	1	7105	581	21	4		4	HEPHL1	11	93797618	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	4395031	93797618	41208898	307	33817											
FOLR4	390243	broad.mit.edu	37	chr11	94040453	94040453	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaactggcgtggtggctgGgactggagtcagggtgagtg	6	9	19	7	1	1	1	1	1	0	0	2	3	2	3	1	6	1	1	1	6	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:94040453G>A	ENST00000440961.2	+	3	494	c.450G>A	c.(448-450)tgG>tgA	p.W150*		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	157						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GTGGTGGCTGGGACTGGAGTC	0.587													4	22					0	0	0	0	A	94040453	G	A	94040453	4	1	192	1	0	0	0	0	0	1	0	0	6029	1241	43	4	460	4	FOLR4	11	94040453	Nonsense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	242835	94040453	40966063	308	33818											
GUCY1A2	2977	broad.mit.edu	37	chr11	106579253	106579253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactggtaagtggttgggCtgacattgatgcgccgaggg	7	11	16	7	2	0	2	0	2	0	0	0	3	0	2	1	4	2	3	1	4	2	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:106579253C>A	ENST00000526355.1	-	7	2444	c.1976G>T	c.(1975-1977)aGc>aTc	p.S659I	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S690I|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S680I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	659					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGTGGTTGGGCTGACATTGAT	0.502													15	42					2.31682e-05	2.69447e-05	1	0	A	106579253	C	A	106579253	3	1	192	1	0	0	0	0	1	0	0	0	6943	797	28	4	230	4	GUCY1A2	11	106579253	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	12538800	106579253	28427263	309	33819											
SIK3	23387	broad.mit.edu	37	chr11	116797940	116797940	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtacagttctcacctgctAttttgatattcagattggca	10	15	7	9	0	2	2	2	1	1	1	3	2	2	2	1	1	2	4	1	1	3	8			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:116797940A>T	ENST00000375300.1	-	4	616	c.611T>A	c.(610-612)aTa>aAa	p.I204K	SIK3_ENST00000434315.2_Missense_Mutation_p.I45K|SIK3_ENST00000446921.2_Missense_Mutation_p.I204K|SIK3_ENST00000542607.1_Missense_Mutation_p.I146K|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000292055.4_Missense_Mutation_p.I146K			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	146	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CTCACCTGCTATTTTGATATT	0.398													25	58					0	0	0	0	T	116797940	A	T	116797940	3	4	192	1	0	0	0	0	1	0	0	0	14407	449	16	5	3434	5	SIK3	11	116797940	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	10218687	116797940	18208576	310	33820											
SORL1	6653	broad.mit.edu	37	chr11	121485640	121485640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggccaagactgacttggGggatagccctctggcatttg	7	10	14	10	0	1	2	0	1	1	1	1	3	1	3	2	4	1	1	2	4	2	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:121485640G>T	ENST00000260197.7	+	41	5609	c.5480G>T	c.(5479-5481)gGg>gTg	p.G1827V	SORL1_ENST00000527934.1_Missense_Mutation_p.G442V|SORL1_ENST00000525532.1_Missense_Mutation_p.G771V|SORL1_ENST00000532694.1_Missense_Mutation_p.G673V|SORL1_ENST00000534286.1_Missense_Mutation_p.G737V	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1827	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACTGACTTGGGGGATAGCCCT	0.517													30	56					5.77227e-19	8.60421e-19	1	0	T	121485640	G	T	121485640	3	4	192	1	0	0	0	0	1	0	0	0	15022	1232	43	4	5642	4	SORL1	11	121485640	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4687700	121485640	13520876	311	33821											
CRTAM	56253	broad.mit.edu	37	chr11	122709301	122709301	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcatggttccccttgcaagGtaaggacttagagttatttt	9	14	11	7	0	0	1	0	0	0	1	1	2	1	2	2	4	1	5	2	4	4	7			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:122709301G>A	ENST00000227348.4	+	1	93		c.e1+1			NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule						cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CCCTTGCAAGGTAAGGACTTA	0.458													16	51					0	0	0	0	A	122709301	G	A	122709301	5	1	192	1	0	0	0	0	0	0	1	0	3927	1275	44	4	49	4	CRTAM	11	122709301	Splice_Site	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1223661	122709301	12297215	312	33822											
OR10G8	219869	broad.mit.edu	37	chr11	123900617	123900617	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctatctccttccacagctgCatggctcagctctatttctt	6	15	6	14	0	4	0	1	0	3	0	6	0	5	0	2	1	3	5	2	1	2	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:123900617C>T	ENST00000431524.1	+	1	321	c.288C>T	c.(286-288)tgC>tgT	p.C96C		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCACAGCTGCATGGCTCAGC	0.527													41	130					0	0	0	0	T	123900617	C	T	123900617	2	4	192	1	0	0	0	0	0	0	0	1	10974	718	25	4		4	OR10G8	11	123900617	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1191316	123900617	11105899	313	33823											
SNX19	399979	broad.mit.edu	37	chr11	130785267	130785267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtcgcccggcagtaagcctCccagaggtgggaaggctcaa	10	5	14	12	2	1	1	1	0	0	1	3	2	2	2	3	4	1	3	3	4	3	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:130785267C>T	ENST00000265909.4	-	1	1137	c.568G>A	c.(568-570)Gag>Aag	p.E190K	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.E190K	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	190	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CAGTAAGCCTCCCAGAGGTGG	0.572													7	38					0	0	0	0	T	130785267	C	T	130785267	3	4	192	1	0	0	0	0	1	0	0	0	14978	864	30	2	2454	2	SNX19	11	130785267	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	6884650	130785267	4221249	314	33824											
NTM	50863	broad.mit.edu	37	chr11	132180115	132180115	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagaattccagtggtacaaGgatgacaaaaggtaaagctt	16	8	11	6	0	0	2	0	1	0	1	1	3	1	3	1	3	2	4	1	3	7	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:132180115G>A	ENST00000374786.1	+	5	1250	c.771G>A	c.(769-771)aaG>aaA	p.K257K	NTM_ENST00000425719.2_Silent_p.K257K|NTM_ENST00000539799.1_Silent_p.K257K|NTM_ENST00000374791.3_Silent_p.K257K|NTM_ENST00000427481.2_Silent_p.K248K|NTM_ENST00000374784.1_Silent_p.K257K|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	257	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGTGGTACAAGGATGACAAAA	0.512													53	137					0	0	0	0	A	132180115	G	A	132180115	2	1	192	1	0	0	0	0	0	0	0	1	10770	991	35	4		4	NTM	11	132180115	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1394848	132180115	2826401	315	33825											
ADIPOR2	79602	broad.mit.edu	37	chr12	1895200	1895200	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccaggagtttcgtttcAtgatcggcgggggctgcagt	6	11	14	10	3	1	1	1	1	0	0	4	2	2	2	2	4	1	4	2	4	0	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:1895200A>G	ENST00000357103.4	+	8	1374	c.1123A>G	c.(1123-1125)Atg>Gtg	p.M375V		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	375					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GTTTCGTTTCATGATCGGCGG	0.537													90	101					0	0	0	0	G	1895200	A	G	1895200	3	3	192	1	0	0	0	0	1	0	0	0	319	217	8	5	1149	5	ADIPOR2	12	1895200	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08		1895200	131956695	316	33826											
TEAD4	7004	broad.mit.edu	37	chr12	3147246	3147246	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacgaaggtctgctcttTcggcaagcaggtggtggaga	8	9	14	10	2	2	1	0	0	2	1	4	3	3	1	1	5	2	3	1	5	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:3147246T>A	ENST00000359864.2	+	11	1200	c.1010T>A	c.(1009-1011)tTc>tAc	p.F337Y	TEAD4_ENST00000358409.2_Missense_Mutation_p.F294Y|TEAD4_ENST00000397122.2_Missense_Mutation_p.F208Y	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	337					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GTCTGCTCTTTCGGCAAGCAG	0.577													31	112					0	0	0	0	A	3147246	T	A	3147246	3	1	192	1	0	0	0	0	1	0	0	0	15835	1783	62	5	1044	5	TEAD4	12	3147246	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	1252046	3147246	130704649	317	33827											
DYRK4	8798	broad.mit.edu	37	chr12	4702204	4702204	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagaaccagctgtctccatAtgaacaaagtgaaatcctgg	15	9	8	9	0	1	3	0	2	1	1	3	3	2	3	3	1	3	1	3	1	6	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:4702204A>G	ENST00000540757.2	+	4	315	c.155A>G	c.(154-156)tAt>tGt	p.Y52C	DYRK4_ENST00000010132.5_Missense_Mutation_p.Y52C|DYRK4_ENST00000543431.1_Missense_Mutation_p.Y52C	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	52						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CTGTCTCCATATGAACAAAGT	0.483													29	103					0	0	0	0	G	4702204	A	G	4702204	3	3	192	1	0	0	0	0	1	0	0	0	4894	449	16	5	161	5	DYRK4	12	4702204	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	1554958	4702204	129149691	318	33828											
NCAPD2	9918	broad.mit.edu	37	chr12	6623493	6623493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaatcaccagaagaaccGccccactcgggaagccataa	15	5	7	14	2	1	2	1	0	0	2	2	3	1	3	5	1	2	0	5	1	5	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:6623493G>T	ENST00000315579.5	+	7	1449	c.650G>T	c.(649-651)cGc>cTc	p.R217L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R172L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	217	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGAAGAACCGCCCCACTCGG	0.488													47	223					4.18559e-23	6.43547e-23	1	0	T	6623493	G	T	6623493	3	4	192	1	0	0	0	0	1	0	0	0	10275	1087	38	3	672	3	NCAPD2	12	6623493	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1921289	6623493	127228402	319	33829											
LEPREL2	10536	broad.mit.edu	37	chr12	6940435	6940435	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcctgctcttctacccGgaggatgaggctgccaagag	8	9	13	11	1	2	2	0	1	2	1	3	4	3	4	3	3	3	2	3	3	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:6940435G>A	ENST00000251761.8	+	0	1074				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2									p.P346P(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)	10						TCTTCTACCCGGAGGATGAGG	0.587													25	154					0	0	0	0	A	6940435	G	A	6940435	1	1	192	0	1	0	0	0	0	0	0	0	8784	1103	39	1		1	LEPREL2	12	6940435	RNA	SNP	G	TCGA-CR-7364-01A-11D-2012-08	316942	6940435	126911460	320	33830											
CD163	9332	broad.mit.edu	37	chr12	7639140	7639141	+	Frame_Shift_Ins	INS	-	-	C																															ttgtgcctgcaattttgctgINScccccagccgtgtgaatggc																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:7639140_7639141insC	ENST00000359156.4	-	10	2614_2615	c.2412_2413insG	c.(2410-2415)ggagcafs	p.A805fs	CD163_ENST00000432237.2_Frame_Shift_Ins_p.A805fs|CD163_ENST00000541972.1_Frame_Shift_Ins_p.A793fs|CD163_ENST00000396620.3_Frame_Shift_Ins_p.A838fs	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	805	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAATTTTGCTGCCCCCAGCCGT	0.48													57	214	---	---	---	---					C	7639141	-	C	7639140	7	5	192	1	0	1	1	0	0	0	0	0	2996	1328	46	0	1085	0	CD163	12	7639140	Frame_Shift_Ins	INS	-	TCGA-CR-7364-01A-11D-2012-08	698705	7639140	126212755	321	33831											
PZP	5858	broad.mit.edu	37	chr12	9356471	9356471	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacagtcactgtctcatTcaggtggctcagaaggacac	11	10	9	11	0	4	1	4	0	1	1	5	2	4	2	0	3	1	1	0	3	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:9356471T>A	ENST00000261336.2	-	2	188	c.160A>T	c.(160-162)Aat>Tat	p.N54Y		NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACTGTCTCATTCAGGTGGCTC	0.532													31	105					0	0	0	0	A	9356471	T	A	9356471	3	1	192	1	0	0	0	0	1	0	0	0	12951	1783	62	5	4428	5	PZP	12	9356471	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	1717331	9356471	124495424	322	33832											
GRIN2B	2904	broad.mit.edu	37	chr12	14018983	14018983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaatcatctttctcgtGggcatccttgatggccacct	7	13	10	11	1	3	1	1	1	2	0	5	2	4	2	3	3	0	1	3	3	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:14018983G>A	ENST00000279593.3	-	2	369	c.160C>T	c.(160-162)Cac>Tac	p.H54Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	54					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTTTCTCGTGGGCATCCTTG	0.572													23	113					0	0	0	0	A	14018983	G	A	14018983	3	1	192	1	0	0	0	0	1	0	0	0	6830	1348	47	4	4342	4	GRIN2B	12	14018983	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4662512	14018983	119832912	323	33833											
SLCO1C1	53919	broad.mit.edu	37	chr12	20893179	20893179	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccggaaattcctcaggcaTagtgggaagatgtcagaaag	14	8	12	7	1	2	2	2	0	0	2	4	4	4	4	2	3	0	1	2	3	4	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:20893179T>C	ENST00000381552.1	+	12	1978	c.1610T>C	c.(1609-1611)aTa>aCa	p.I537T	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.I537T|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.I537T|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.I419T|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.I488T			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	537					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TCCTCAGGCATAGTGGGAAGA	0.388													18	72					0	0	0	0	C	20893179	T	C	20893179	3	2	192	1	0	0	0	0	1	0	0	0	14813	1406	49	5	1652	5	SLCO1C1	12	20893179	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	6874196	20893179	112958716	324	33834											
PDZRN4	29951	broad.mit.edu	37	chr12	41966994	41966994	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcaaggttgtagcgctGaaagcaaggagaaggtttta	13	9	14	5	1	0	3	0	2	0	1	0	4	0	3	0	3	3	6	0	3	6	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:41966994G>T	ENST00000298919.7	+	10	2021	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.E805*|PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.E547*			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	805							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTGTAGCGCTGAAAGCAAGGA	0.517													42	124					4.16155e-14	5.82066e-14	1	0	T	41966994	G	T	41966994	4	4	192	1	0	0	0	0	0	1	0	0	11781	1291	45	2	2524	2	PDZRN4	12	41966994	Nonsense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	21073815	41966994	91884901	325	33835											
COL2A1	1280	broad.mit.edu	37	chr12	48368576	48368576	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagacgcaagtctcgccaGtctccatgttgcagaaaacc	11	8	10	12	2	2	2	0	0	2	2	4	2	2	2	3	1	2	4	3	1	4	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:48368576G>C	ENST00000380518.3	-	52	4120	c.3956C>G	c.(3955-3957)aCt>aGt	p.T1319S	COL2A1_ENST00000337299.6_Missense_Mutation_p.T1250S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1319	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGTCTCGCCAGTCTCCATGTT	0.547													36	123					0	0	0	0	C	48368576	G	C	48368576	3	2	192	1	0	0	0	0	1	0	0	0	3717	1029	36	4	519	4	COL2A1	12	48368576	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	6401582	48368576	85483319	326	33836											
COL2A1	1280	broad.mit.edu	37	chr12	48389061	48389061	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atcaccaggctttccaggggGaccaggaggaccacggggac	10	4	15	12	1	1	0	1	0	0	0	2	4	2	4	4	7	0	1	4	7	0	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:48389061G>C	ENST00000380518.3	-	11	903	c.739C>G	c.(739-741)Ccc>Gcc	p.P247A	COL2A1_ENST00000337299.6_Missense_Mutation_p.P178A	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	247	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.P178S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTTCCAGGGGGACCAGGAGGA	0.502													19	112					0	0	0	0	C	48389061	G	C	48389061	3	2	192	1	0	0	0	0	1	0	0	0	3717	1174	41	2	3900	2	COL2A1	12	48389061	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	20485	48389061	85462834	327	33837											
ASB8	140461	broad.mit.edu	37	chr12	48543741	48543741	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcatctttctctgctgcaTagtggagggctgttcggtta	5	15	11	10	1	3	0	1	0	2	0	5	1	3	1	1	3	2	5	1	3	2	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:48543741T>C	ENST00000317697.3	-	4	444	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.Y92C|ASB8_ENST00000536071.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	92					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						CTCTGCTGCATAGTGGAGGGC	0.498													22	50					0	0	0	0	C	48543741	T	C	48543741	3	2	192	1	0	0	0	0	1	0	0	0	1033	1406	49	5	595	5	ASB8	12	48543741	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	154680	48543741	85308154	328	33838											
CSAD	51380	broad.mit.edu	37	chr12	53563908	53563908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcctcggggaccattttcCctctgaaaaagaaaatgcag	13	9	9	10	1	1	2	0	1	1	1	4	4	3	3	3	2	1	1	3	2	4	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:53563908C>T	ENST00000267085.4	-	10	964	c.731G>A	c.(730-732)gGg>gAg	p.G244E	CSAD_ENST00000379843.3_Missense_Mutation_p.G70E|CSAD_ENST00000444623.1_Missense_Mutation_p.G217E|CSAD_ENST00000453446.2_Missense_Mutation_p.G217E|CSAD_ENST00000379846.1_Missense_Mutation_p.G70E	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	217					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GACCATTTTCCCTCTGAAAAA	0.522													20	49					0	0	0	0	T	53563908	C	T	53563908	3	4	192	1	0	0	0	0	1	0	0	0	3955	623	22	4	863	4	CSAD	12	53563908	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	5020167	53563908	80287987	329	33839											
OR10A7	121364	broad.mit.edu	37	chr12	55615713	55615713	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagtgaaaggggctgtcaAgaggacaatcactcaaaaag	17	6	12	6	0	3	3	3	2	0	1	3	4	3	4	0	3	0	1	0	3	6	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:55615713A>G	ENST00000326258.1	+	1	905	c.905A>G	c.(904-906)aAg>aGg	p.K302R		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GGGGCTGTCAAGAGGACAATC	0.428													5	35					0	0	0	0	G	55615713	A	G	55615713	3	3	192	1	0	0	0	0	1	0	0	0	10966	72	3	5	907	5	OR10A7	12	55615713	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	2051805	55615713	78236182	330	33840											
NAV3	89795	broad.mit.edu	37	chr12	78444708	78444708	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctggctatcctcgcaGtggtaccagtcgattcatcc	6	11	12	12	2	1	0	1	0	0	0	5	1	3	0	3	3	2	4	3	3	2	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:78444708G>C	ENST00000397909.2	+	11	2470	c.2297G>C	c.(2296-2298)aGt>aCt	p.S766T	NAV3_ENST00000536525.2_Missense_Mutation_p.S766T|NAV3_ENST00000266692.7_Missense_Mutation_p.S766T|NAV3_ENST00000228327.6_Missense_Mutation_p.S766T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	766						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S766I(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TATCCTCGCAGTGGTACCAGT	0.587										HNSCC(70;0.22)			7	32					0	0	0	0	C	78444708	G	C	78444708	3	2	192	1	0	0	0	0	1	0	0	0	10255	1029	36	4	2339	4	NAV3	12	78444708	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	22828995	78444708	55407187	331	33841											
PLXNC1	10154	broad.mit.edu	37	chr12	94603380	94603380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttaggtgcacttttcaagGagattgtgtacattcagaga	11	15	10	5	0	2	2	2	0	0	2	2	4	2	2	0	2	2	2	0	2	3	7			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:94603380G>A	ENST00000258526.4	+	5	1703	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	485					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACTTTTCAAGGAGATTGTGTA	0.388													36	149					0	0	0	0	A	94603380	G	A	94603380	3	1	192	1	0	0	0	0	1	0	0	0	12198	1174	41	2	1472	2	PLXNC1	12	94603380	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	16158672	94603380	39248515	332	33842											
PLXNC1	10154	broad.mit.edu	37	chr12	94641821	94641821	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcagtatcgggaggaccCcagattcacggggtatcggg	8	7	15	11	3	1	1	1	0	0	1	3	3	1	3	3	5	1	3	3	5	2	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:94641821C>G	ENST00000258526.4	+	13	2780	c.2531C>G	c.(2530-2532)cCc>cGc	p.P844R		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	844					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CGGGAGGACCCCAGATTCACG	0.493													19	58					0	0	0	0	G	94641821	C	G	94641821	3	3	192	1	0	0	0	0	1	0	0	0	12198	623	22	4	2581	4	PLXNC1	12	94641821	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	38441	94641821	39210074	333	33843											
ACTR6	64431	broad.mit.edu	37	chr12	100599500	100599500	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagacaagtttgggattaccTttttggaaaagaaatgtatc	14	13	10	4	0	0	2	0	0	0	2	1	5	0	4	1	2	1	2	1	2	6	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:100599500T>A	ENST00000188312.2	+	3	998	c.233T>A	c.(232-234)cTt>cAt	p.L78H	ACTR6_ENST00000551617.1_5'UTR|ACTR6_ENST00000546902.1_5'UTR|ACTR6_ENST00000550813.1_3'UTR|ACTR6_ENST00000552376.1_Missense_Mutation_p.L78H	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	78						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TGGGATTACCTTTTTGGAAAA	0.234													9	23					0	0	0	0	A	100599500	T	A	100599500	3	1	192	1	0	0	0	0	1	0	0	0	216	1609	56	5	243	5	ACTR6	12	100599500	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	5957679	100599500	33252395	334	33844											
PAH	5053	broad.mit.edu	37	chr12	103232972	103232972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttactttattttctggaggGcactgcaaaggattccaatt	10	16	8	7	0	1	0	0	0	1	0	2	2	2	2	1	3	2	2	1	3	4	8	rs76542238		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:103232972G>A	ENST00000553106.1	-	13	1812	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	PAH_ENST00000307000.2_Missense_Mutation_p.A442V	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	447			A -> D (in PKU).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTCTGGAGGGCACTGCAAAG	0.398													12	34					0	0	0	0	A	103232972	G	A	103232972	3	1	192	1	0	0	0	0	1	0	0	0	11465	1203	42	4	22	4	PAH	12	103232972	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2633472	103232972	30618923	335	33845											
CUX2	23316	broad.mit.edu	37	chr12	111655724	111655724	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatggtggctcctgtattaAaaagcttccaagccgaggta	12	10	11	8	1	0	1	0	0	0	1	2	2	2	1	3	3	2	4	3	3	6	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:111655724A>T	ENST00000261726.6	+	3	359	c.205A>T	c.(205-207)Aaa>Taa	p.K69*	CUX2_ENST00000551604.2_3'UTR	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	69						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCTGTATTAAAAAGCTTCCA	0.567													28	84					0	0	0	0	T	111655724	A	T	111655724	4	4	192	1	0	0	0	0	0	1	0	0	4097	15	1	5	215	5	CUX2	12	111655724	Nonsense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	8422752	111655724	22196171	336	33846											
CUX2	23316	broad.mit.edu	37	chr12	111758214	111758214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctcagccgcccctacGcctccgtgtcgccctcgctg	2	8	10	21	5	1	0	1	0	0	0	4	0	2	0	7	0	3	2	7	0	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:111758214G>T	ENST00000261726.6	+	17	2555	c.2401G>T	c.(2401-2403)Gcc>Tcc	p.A801S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	801						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCGCCCCTACGCCTCCGTGTC	0.721													20	55					6.21321e-17	9.04906e-17	1	0	T	111758214	G	T	111758214	3	4	192	1	0	0	0	0	1	0	0	0	4097	1087	38	3	2467	3	CUX2	12	111758214	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	102490	111758214	22093681	337	33847											
SRRM4	84530	broad.mit.edu	37	chr12	119583342	119583342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtctcggggccaggagaagGggagccccagtgggggcttg	6	5	21	9	1	1	1	0	0	1	1	2	3	1	2	3	8	1	1	3	8	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:119583342G>A	ENST00000267260.4	+	9	1316	c.928G>A	c.(928-930)Ggg>Agg	p.G310R		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	310	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCAGGAGAAGGGGAGCCCCAG	0.622													4	28					0	0	0	0	A	119583342	G	A	119583342	3	1	192	1	0	0	0	0	1	0	0	0	15261	1232	43	4	962	4	SRRM4	12	119583342	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	7825128	119583342	14268553	338	33848											
SRRM4	84530	broad.mit.edu	37	chr12	119592088	119592088	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagaaggactcgcagcagCgggagcgcgagcgagcgcgt	9	3	19	10	7	0	1	0	1	0	1	1	6	0	3	0	2	5	2	0	2	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:119592088C>A	ENST00000267260.4	+	12	1820	c.1432C>A	c.(1432-1434)Cgg>Agg	p.R478R		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	478	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTCGCAGCAGCGGGAGCGCGA	0.662													3	17					0.004672	0.00514163	1	0	A	119592088	C	A	119592088	2	1	192	1	0	0	0	0	0	0	0	1	15261	759	27	3		3	SRRM4	12	119592088	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	8746	119592088	14259807	339	33849											
VPS37B	79720	broad.mit.edu	37	chr12	123352007	123352007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggggcagcggggccagggCctgtgggagtctctgcccct	3	6	20	12	1	1	0	0	0	1	0	2	1	1	1	4	7	2	1	4	7	0	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:123352007C>T	ENST00000267202.2	-	4	895	c.514G>A	c.(514-516)Gcc>Acc	p.A172T		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	172	Pro-rich.|VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GGGGCCAGGGCCTGTGGGAGT	0.642													35	110					0	0	0	0	T	123352007	C	T	123352007	3	4	192	1	0	0	0	0	1	0	0	0	17302	739	26	4	347	4	VPS37B	12	123352007	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	3759919	123352007	10499888	340	33850											
NCOR2	9612	broad.mit.edu	37	chr12	124846676	124846676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtgtgcactcaccctcCttgtcggcggggggtgccgg	3	9	16	13	3	1	0	1	0	0	0	3	0	2	0	3	6	2	1	3	6	0	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:124846676C>G	ENST00000356219.3	-	23	3248	c.3093G>C	c.(3091-3093)aaG>aaC	p.K1031N	NCOR2_ENST00000429285.2_Missense_Mutation_p.K1014N|NCOR2_ENST00000405201.1_Missense_Mutation_p.K1032N|NCOR2_ENST00000404621.1_Missense_Mutation_p.K1014N|NCOR2_ENST00000404121.2_Missense_Mutation_p.K585N|NCOR2_ENST00000397355.1_Missense_Mutation_p.K1015N	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1032					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACTCACCCTCCTTGTCGGCGG	0.682													5	11					0	0	0	0	G	124846676	C	G	124846676	3	3	192	1	0	0	0	0	1	0	0	0	10306	680	24	4	4576	4	NCOR2	12	124846676	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1494669	124846676	9005219	341	33851											
NCOR2	9612	broad.mit.edu	37	chr12	124862866	124862866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccaccacgggcgggaatGcagcctcctcgctggccgcc	5	5	12	19	4	0	0	0	0	0	0	3	1	2	1	7	3	2	2	7	3	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:124862866G>A	ENST00000356219.3	-	19	2239	c.2084C>T	c.(2083-2085)gCa>gTa	p.A695V	NCOR2_ENST00000429285.2_Missense_Mutation_p.A694V|NCOR2_ENST00000405201.1_Missense_Mutation_p.A695V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A694V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A265V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A695V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	695					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGCGGGAATGCAGCCTCCTC	0.667													12	39					0	0	0	0	A	124862866	G	A	124862866	3	1	192	1	0	0	0	0	1	0	0	0	10306	1319	46	4	5604	4	NCOR2	12	124862866	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	16190	124862866	8989029	342	33852											
TMEM132B	114795	broad.mit.edu	37	chr12	125834477	125834477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccagctgtcggctgcaaGgggccccagggctgtgtgtg	5	7	17	12	1	0	0	0	0	0	0	1	0	0	0	3	4	3	4	3	4	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:125834477G>T	ENST00000299308.3	+	2	540	c.532G>T	c.(532-534)Ggg>Tgg	p.G178W	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	178						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCGGCTGCAAGGGGCCCCAGG	0.622													28	79					8.58068e-18	1.26421e-17	1	0	T	125834477	G	T	125834477	3	4	192	1	0	0	0	0	1	0	0	0	16140	1000	35	4	538	4	TMEM132B	12	125834477	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	971611	125834477	8017418	343	33853											
RNF6	6049	broad.mit.edu	37	chr13	26789615	26789615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttgttcgactcacagctCtccaagtttggttcccattt	6	16	8	11	1	2	0	1	0	1	0	5	1	3	0	2	2	1	5	2	2	1	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:26789615C>T	ENST00000381588.4	-	5	1156	c.404G>A	c.(403-405)aGa>aAa	p.R135K	RNF6_ENST00000346166.3_Missense_Mutation_p.R135K|RNF6_ENST00000399762.2_Missense_Mutation_p.E14K|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000381570.3_Missense_Mutation_p.R135K	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	135					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ACTCACAGCTCTCCAAGTTTG	0.408													20	34					0	0	0	0	T	26789615	C	T	26789615	3	4	192	1	0	0	0	0	1	0	0	0	13583	913	32	2	1657	2	RNF6	13	26789615	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08		26789615	88380263	344	33854											
LNX2	222484	broad.mit.edu	37	chr13	28155627	28155627	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaagtttctgaggcactTgtagcagaatgtatgtccac	13	12	9	7	0	1	2	0	1	1	1	2	2	2	2	1	1	1	5	1	1	6	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:28155627T>G	ENST00000316334.3	-	2	343	c.214A>C	c.(214-216)Aag>Cag	p.K72Q		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	72							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CTGAGGCACTTGTAGCAGAAT	0.413													24	28					0	0	0	0	G	28155627	T	G	28155627	3	3	192	1	0	0	0	0	1	0	0	0	8921	1821	63	5	1894	5	LNX2	13	28155627	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	1366012	28155627	87014251	345	33855											
AKAP11	11215	broad.mit.edu	37	chr13	42874719	42874719	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactaaaagaacgtgccattAgtggcctggctaactttttg	11	12	9	9	1	0	1	0	0	0	1	0	1	0	1	2	2	3	1	2	2	5	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:42874719A>G	ENST00000025301.2	+	8	2012	c.1837A>G	c.(1837-1839)Agt>Ggt	p.S613G		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	613					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ACGTGCCATTAGTGGCCTGGC	0.388													11	30					0	0	0	0	G	42874719	A	G	42874719	3	3	192	1	0	0	0	0	1	0	0	0	447	420	15	5	1859	5	AKAP11	13	42874719	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	14719092	42874719	72295159	346	33856											
PCDH8	5100	broad.mit.edu	37	chr13	53421350	53421351	+	Frame_Shift_Del	DEL	CG	CG	-																															gaccagggccaccaggctctCgcgcgccgccccctccggca																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:53421350_53421351delCG	ENST00000377942.3	-	1	1424_1425	c.1221_1222delCG	c.(1219-1224)cgagfs	p.RE407fs	PCDH8_ENST00000338862.4_Frame_Shift_Del_p.RE407fs	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	407	Cadherin 4.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		ACCAGGCTCTCGCGCGCCGCCC	0.757													4	9	---	---	---	---					-	53421351	CG	-	53421350	7	5	192	1	0	1	0	1	0	0	0	0	11588	893	31	0	2002	0	PCDH8	13	53421350	Frame_Shift_Del	DEL	CG	TCGA-CR-7364-01A-11D-2012-08	10546631	53421350	61748528	347	33857											
DIAPH3	81624	broad.mit.edu	37	chr13	60616954	60616954	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggcttctcttaagacttcCctataaaataagtcaaaaaa	16	12	4	9	1	2	1	1	0	1	1	5	1	3	1	1	1	0	1	1	1	8	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:60616954C>T	ENST00000400324.4	-	5	716	c.495_splice	c.e5-1	p.G166_splice	DIAPH3_ENST00000400320.1_Splice_Site_p.G120_splice|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3_ENST00000377908.2_Splice_Site_p.G155_splice|DIAPH3_ENST00000267215.4_Splice_Site_p.G166_splice|DIAPH3_ENST00000400319.1_Splice_Site_p.G96_splice|DIAPH3_ENST00000400330.1_Splice_Site_p.G166_splice|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3-AS1_ENST00000432995.1_RNA	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	166	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTAAGACTTCCCTATAAAATA	0.378													8	21					0	0	0	0	T	60616954	C	T	60616954	5	4	192	1	0	0	0	0	0	0	1	0	4557	637	22	4	3201	4	DIAPH3	13	60616954	Splice_Site	SNP	C	TCGA-CR-7364-01A-11D-2012-08	7195604	60616954	54552924	348	33858											
DACH1	1602	broad.mit.edu	37	chr13	72063214	72063214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacctggaggcagtggttgtCcatgcccagttagagagagt	10	9	14	8	0	0	2	0	0	0	2	1	4	1	3	3	3	2	3	3	3	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:72063214C>T	ENST00000305425.4	-	7	2065	c.1643G>A	c.(1642-1644)gGa>gAa	p.G548E	DACH1_ENST00000359684.2_Missense_Mutation_p.G600E|DACH1_ENST00000313174.7_Missense_Mutation_p.G400E|DACH1_ENST00000354591.4_Missense_Mutation_p.G346E	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	598					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CAGTGGTTGTCCATGCCCAGT	0.448													55	104					0	0	0	0	T	72063214	C	T	72063214	3	4	192	1	0	0	0	0	1	0	0	0	4253	855	30	2	503	2	DACH1	13	72063214	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	11446260	72063214	43106664	349	33859											
MYCBP2	23077	broad.mit.edu	37	chr13	77672447	77672447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcatcgcaggtgctgtCtgttagactatttgttttta	6	18	10	7	1	2	1	1	0	1	1	3	1	2	1	0	1	1	5	0	1	3	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:77672447C>A	ENST00000407578.2	-	56	9108	c.8842G>T	c.(8842-8844)Gac>Tac	p.D2948Y	MYCBP2_ENST00000360084.5_Missense_Mutation_p.D433Y|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2910Y|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.D2910Y	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2910					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAGGTGCTGTCTGTTAGACTA	0.423													35	68					4.65686e-17	6.79795e-17	1	0	A	77672447	C	A	77672447	3	1	192	1	0	0	0	0	1	0	0	0	10088	913	32	2	5306	2	MYCBP2	13	77672447	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	5609233	77672447	37497431	350	33860											
SLITRK1	114798	broad.mit.edu	37	chr13	84453670	84453670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagggaattaatctcggacGcggaggagttggcatctcgt	9	10	15	7	4	2	0	0	0	2	0	4	4	2	4	0	5	0	3	0	5	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:84453670G>T	ENST00000377084.2	-	1	2858	c.1973C>A	c.(1972-1974)gCg>gAg	p.A658E		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	658						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AATCTCGGACGCGGAGGAGTT	0.552													20	24					1.40151e-16	2.03187e-16	1	0	T	84453670	G	T	84453670	3	4	192	1	0	0	0	0	1	0	0	0	14830	1087	38	3	121	3	SLITRK1	13	84453670	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	6781223	84453670	30716208	351	33861											
SLC10A2	6555	broad.mit.edu	37	chr13	103701711	103701711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtgaatacgacattgaGctcctcaggagtgaaggaga	14	7	14	6	1	1	4	1	3	0	1	2	8	2	5	1	3	2	1	1	3	4	2	rs144946104		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:103701711G>C	ENST00000245312.3	-	5	1443	c.847C>G	c.(847-849)Ctc>Gtc	p.L283V		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	283					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACGACATTGAGCTCCTCAGGA	0.473													34	21					0	0	0	0	C	103701711	G	C	103701711	3	2	192	1	0	0	0	0	1	0	0	0	14462	971	34	4	207	4	SLC10A2	13	103701711	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	19248041	103701711	11468167	352	33862											
CUL4A	8451	broad.mit.edu	37	chr13	113887572	113887572	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accattgatggaatcctactGctgatcgagcgcgagaggag	11	8	13	9	3	0	3	0	2	0	1	2	7	1	5	2	2	3	1	2	2	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:113887572G>A	ENST00000451881.1	+	6	543	c.294G>A	c.(292-294)ctG>ctA	p.L98L	CUL4A_ENST00000375440.4_Silent_p.L198L|CUL4A_ENST00000326335.4_Silent_p.L98L|CUL4A_ENST00000375441.3_Silent_p.L98L	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	198					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GAATCCTACTGCTGATCGAGC	0.512													43	38					0	0	0	0	A	113887572	G	A	113887572	2	1	192	1	0	0	0	0	0	0	0	1	4089	1306	46	4		4	CUL4A	13	113887572	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	10185861	113887572	1282306	353	33863											
POTEG	404785	broad.mit.edu	37	chr14	19563520	19563520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagacggccagagagtatgCtgtttctagtcatcataatg	12	11	10	8	1	3	2	2	0	1	2	3	3	3	2	1	1	1	3	1	1	3	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:19563520C>T	ENST00000409832.3	+	5	1086	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	345										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGAGAGTATGCTGTTTCTAGT	0.353													45	161					0	0	0	0	T	19563520	C	T	19563520	3	4	192	1	0	0	0	0	1	0	0	0	12338	797	28	4	1052	4	POTEG	14	19563520	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08		19563520	87786020	354	33864											
OR10G2	26534	broad.mit.edu	37	chr14	22102184	22102184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagccgctgccccatccaggGggtctttggagccagcccta	6	7	12	16	1	1	0	0	0	1	0	2	1	2	1	6	3	4	1	6	3	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:22102184G>T	ENST00000542433.1	-	1	912	c.815C>A	c.(814-816)cCc>cAc	p.P272H		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P272N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCCATCCAGGGGGTCTTTGGA	0.542													22	62					2.37509e-13	3.30742e-13	1	0	T	22102184	G	T	22102184	3	4	192	1	0	0	0	0	1	0	0	0	10970	1232	43	4	120	4	OR10G2	14	22102184	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2538664	22102184	85247356	355	33865											
EFS	10278	broad.mit.edu	37	chr14	23826521	23826521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccatctcttggatggCagggctggatgggtagccca	7	9	14	11	0	1	0	0	0	1	0	2	2	1	2	2	5	2	4	2	5	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:23826521C>A	ENST00000216733.3	-	6	2207	c.1600G>T	c.(1600-1602)Gcc>Tcc	p.A534S	EFS_ENST00000429593.2_Missense_Mutation_p.A365S|EFS_ENST00000351354.3_Missense_Mutation_p.A441S	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	534					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		TCTTGGATGGCAGGGCTGGAT	0.612													4	101					0.00909568	0.00994106	1	0	A	23826521	C	A	23826521	3	1	192	1	0	0	0	0	1	0	0	0	4995	710	25	4	89	4	EFS	14	23826521	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1724337	23826521	83523019	356	33866											
HEATR5A	25938	broad.mit.edu	37	chr14	31852842	31852842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacttatgtccagtaagcCgttcaaggcaacgatccaag	14	8	9	10	2	1	1	1	0	0	1	3	2	3	1	3	1	2	3	3	1	6	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:31852842C>T	ENST00000543095.2	-	10	1665	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q	HEATR5A_ENST00000439348.1_Missense_Mutation_p.R488Q|HEATR5A_ENST00000404677.3_Missense_Mutation_p.R494Q|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R488Q|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R201Q	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	488							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCCAGTAAGCCGTTCAAGGCA	0.473													55	113					0	0	0	0	T	31852842	C	T	31852842	3	4	192	1	0	0	0	0	1	0	0	0	7081	652	23	1	4767	1	HEATR5A	14	31852842	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	8026321	31852842	75496698	357	33867											
NPAS3	64067	broad.mit.edu	37	chr14	34269279	34269279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggacagcgcaggcgaggCgggcgcgcaggcctccagca	7	2	17	15	6	0	0	0	0	0	0	2	2	1	1	2	5	2	3	2	5	0	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:34269279C>T	ENST00000346562.2	+	11	1744	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	NPAS3_ENST00000551492.1_Missense_Mutation_p.A594V|NPAS3_ENST00000548645.1_Missense_Mutation_p.A559V|NPAS3_ENST00000357798.5_Missense_Mutation_p.A576V|NPAS3_ENST00000356141.4_Missense_Mutation_p.A589V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCAGGCGAGGCGGGCGCGCAG	0.687													5	17					0	0	0	0	T	34269279	C	T	34269279	3	4	192	1	0	0	0	0	1	0	0	0	10634	768	27	1	1867	1	NPAS3	14	34269279	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	2416437	34269279	73080261	358	33868											
KCNH5	27133	broad.mit.edu	37	chr14	63453789	63453789	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaattcatctcatacttaCttcagctagtcttgaatgtt	12	16	4	9	0	4	1	3	1	2	0	5	1	4	1	0	0	3	2	0	0	6	7			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:63453789C>A	ENST00000322893.7	-	5	818		c.e5+1		KCNH5_ENST00000420622.2_Splice_Site|KCNH5_ENST00000394968.1_Splice_Site|KCNH5_ENST00000394964.2_Splice_Site	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5						regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTCATACTTACTTCAGCTAGT	0.378													27	66					7.68411e-24	1.18432e-23	1	0	A	63453789	C	A	63453789	5	1	192	1	0	0	0	0	0	0	1	0	8088	579	20	4	2478	4	KCNH5	14	63453789	Splice_Site	SNP	C	TCGA-CR-7364-01A-11D-2012-08	29184510	63453789	43895751	359	33869											
FNTB	2342	broad.mit.edu	37	chr14	65511158	65511158	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgcgcactgcacgccCaaggtgagcctggggagctg	7	5	14	15	3	0	1	0	1	0	0	1	2	1	2	4	3	3	3	4	3	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:65511158C>G	ENST00000246166.2	+	9	1186	c.952C>G	c.(952-954)Caa>Gaa	p.Q318E	CHURC1-FNTB_ENST00000542227.1_Missense_Mutation_p.Q272E|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.Q352E|CHURC1-FNTB_ENST00000448390.2_Missense_Mutation_p.Q74E	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACTGCACGCCCAAGGTGAGCC	0.592													28	96					0	0	0	0	G	65511158	C	G	65511158	3	3	192	1	0	0	0	0	1	0	0	0	6023	595	21	4	986	4	FNTB	14	65511158	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	2057369	65511158	41838382	360	33870											
SLC10A1	6554	broad.mit.edu	37	chr14	70263521	70263521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacccccaggcctacctgaGgttcatgtcccccttcatgg	6	10	8	17	0	3	1	3	1	0	0	4	1	4	1	6	3	1	1	6	3	1	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:70263521G>A	ENST00000216540.4	-	1	485	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	118					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		GCCTACCTGAGGTTCATGTCC	0.547													10	24					0	0	0	0	A	70263521	G	A	70263521	3	1	192	1	0	0	0	0	1	0	0	0	14461	1000	35	4	717	4	SLC10A1	14	70263521	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4752363	70263521	37086019	361	33871											
MED6	10001	broad.mit.edu	37	chr14	71058033	71058033	+	Missense_Mutation	SNP	C	C	T																															gaggtctaaaagtaaagcatCcacacgttgtctctgaaaaa																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:71058033C>T	ENST00000256379.5	-	6	561	c.532G>A	c.(532-534)Gat>Aat	p.D178N	MED6_ENST00000440435.2_Intron|MED6_ENST00000554963.1_Missense_Mutation_p.D178N|MED6_ENST00000556044.1_5'UTR|MED6_ENST00000430055.2_Missense_Mutation_p.D185N	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	178					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		AGTAAAGCATCCACACGTTGT	0.353													14	39					0	0	0	0	T	71058033	C	T	71058033	3	4	192	1	0	0	0	0	1	0	0	0	9520	855	30	2	220	2	MED6	14	71058033	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	794512	71058033	36291507	362	33872	252	2									
MED6	10001	broad.mit.edu	37	chr14	71058034	71058034	+	Silent	SNP	C	C	A																															aggtctaaaagtaaagcatcCacacgttgtctctgaaaaat																								rs149635535		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:71058034C>A	ENST00000256379.5	-	6	560	c.531G>T	c.(529-531)gtG>gtT	p.V177V	MED6_ENST00000440435.2_Intron|MED6_ENST00000554963.1_Silent_p.V177V|MED6_ENST00000556044.1_5'UTR|MED6_ENST00000430055.2_Silent_p.V184V	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	177					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		GTAAAGCATCCACACGTTGTC	0.353													14	40					1.15088e-07	1.42458e-07	1	0	A	71058034	C	A	71058034	2	1	192	1	0	0	0	0	0	0	0	1	9520	581	21	4		4	MED6	14	71058034	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1	71058034	36291506	363	33873	252	2									
FBLN5	10516	broad.mit.edu	37	chr14	92349360	92349360	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcaggagcagaagtatgtgCcgggctggttcacacactca	10	7	14	10	1	2	1	2	0	0	1	2	2	2	2	1	4	2	5	1	4	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:92349360C>G	ENST00000267620.10	-	9	1092	c.923G>C	c.(922-924)gGc>gCc	p.G308A	FBLN5_ENST00000342058.4_Missense_Mutation_p.G267A|FBLN5_ENST00000556154.1_Missense_Mutation_p.G272A			Q9UBX5	FBLN5_HUMAN	fibulin 5	267	EGF-like 6; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				GAAGTATGTGCCGGGCTGGTT	0.567													23	74					0	0	0	0	G	92349360	C	G	92349360	3	3	192	1	0	0	0	0	1	0	0	0	5745	739	26	4	562	4	FBLN5	14	92349360	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	21291326	92349360	15000180	364	33874											
WDR25	79446	broad.mit.edu	37	chr14	100934422	100934422	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacacagaggcagtgcGggccgcccggtgggctccct	5	5	15	16	3	0	1	0	0	0	1	1	1	1	1	4	4	2	3	4	4	0	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:100934422G>C	ENST00000335290.6	+	3	1113	c.887G>C	c.(886-888)cGg>cCg	p.R296P	WDR25_ENST00000402312.3_Missense_Mutation_p.R296P|WDR25_ENST00000554998.1_Missense_Mutation_p.R296P|WDR25_ENST00000542471.2_Missense_Mutation_p.R39P	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	296										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GAGGCAGTGCGGGCCGCCCGG	0.617													37	125					0	0	0	0	C	100934422	G	C	100934422	3	2	192	1	0	0	0	0	1	0	0	0	17378	1116	39	3	893	3	WDR25	14	100934422	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	8585062	100934422	6415118	365	33875											
KIF26A	26153	broad.mit.edu	37	chr14	104640109	104640109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaggcggcggctggcagggCcggggaggctgctgggggtc	3	5	24	9	3	0	1	0	1	0	0	1	2	0	2	1	10	1	4	1	10	0	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:104640109C>T	ENST00000315264.7	+	9	1895	c.1517C>T	c.(1516-1518)gCc>gTc	p.A506V	KIF26A_ENST00000423312.2_Missense_Mutation_p.A645V			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	645	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCTGGCAGGGCCGGGGAGGCT	0.667													12	30					0	0	0	0	T	104640109	C	T	104640109	3	4	192	1	0	0	0	0	1	0	0	0	8345	739	26	4	1972	4	KIF26A	14	104640109	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	3705687	104640109	2709431	366	33876											
MTA1	9112	broad.mit.edu	37	chr14	105920619	105920619	+	Frame_Shift_Del	DEL	G	G	-																															cgagtaggaaaccggtaccaGgcagacatcaccgacttgtt																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:105920619delG	ENST00000331320.7	+	7	736	c.522delG	c.(520-522)cafs	p.Q174fs	MTA1_ENST00000406191.1_Frame_Shift_Del_p.Q174fs|MTA1_ENST00000405646.1_Frame_Shift_Del_p.Q157fs	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	174	ELM2.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		ACCGGTACCAGGCAGACATCA	0.542													14	45	---	---	---	---					-	105920619	G	-	105920619	7	5	192	1	0	1	0	1	0	0	0	0	9978	991	35	0	548	0	MTA1	14	105920619	Frame_Shift_Del	DEL	G	TCGA-CR-7364-01A-11D-2012-08	1280510	105920619	1428921	367	33877											
MAGEL2	54551	broad.mit.edu	37	chr15	23889144	23889144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctctgctacacctattagCggggagggggcctgctggtg	6	10	15	10	1	1	0	0	0	1	0	2	1	1	1	2	5	4	2	2	5	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:23889144C>A	ENST00000532292.1	-	1	2031	c.1937G>T	c.(1936-1938)cGc>cTc	p.R646L		NM_019066.4	NP_061939.3			MAGE-like 2									p.R646H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CACCTATTAGCGGGGAGGGGG	0.582													3	27					0.004672	0.00514163	1	0	A	23889144	C	A	23889144	3	1	192	1	0	0	0	0	1	0	0	0	9258	768	27	3	7	3	MAGEL2	15	23889144	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08		23889144	78642248	368	33878											
TJP1	7082	broad.mit.edu	37	chr15	30003139	30003139	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggagggggagtggccTggatgggttcatagcgtttc	7	9	20	5	1	1	0	1	0	0	0	2	5	1	4	1	7	1	2	1	7	1	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:30003139T>A	ENST00000346128.6	-	24	4742	c.4268A>T	c.(4267-4269)cAg>cTg	p.Q1423L	TJP1_ENST00000400011.2_Missense_Mutation_p.Q1347L|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1343L|TJP1_ENST00000356107.6_Missense_Mutation_p.Q1423L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1423					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGAGTGGCCTGGATGGGTTC	0.522													74	163					0	0	0	0	A	30003139	T	A	30003139	3	1	192	1	0	0	0	0	1	0	0	0	16023	1580	55	5	998	5	TJP1	15	30003139	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	6113995	30003139	72528253	369	33879											
RYR3	6263	broad.mit.edu	37	chr15	34078040	34078040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcctactggtgggagcgggGtcctgagaacctgcccccca	6	7	14	14	1	0	1	0	1	0	1	2	3	2	2	6	4	4	0	6	4	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:34078040G>A	ENST00000389232.4	+	66	9516	c.9446G>A	c.(9445-9447)gGt>gAt	p.G3149D	RYR3_ENST00000415757.3_Missense_Mutation_p.G3149D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3149					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGGAGCGGGGTCCTGAGAAC	0.572													76	186					0	0	0	0	A	34078040	G	A	34078040	3	1	192	1	0	0	0	0	1	0	0	0	13855	1261	44	4	9708	4	RYR3	15	34078040	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4074901	34078040	68453352	370	33880											
MAPKBP1	23005	broad.mit.edu	37	chr15	42113133	42113133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtggaactgagcgttagatCcatgctggatctgcggcagc	8	10	14	9	2	1	2	0	1	1	1	2	4	2	4	1	3	5	3	1	3	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:42113133C>T	ENST00000457542.2	+	23	2871	c.2585C>T	c.(2584-2586)tCc>tTc	p.S862F	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.S745F|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.S862F|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.S868F|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.S701F	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	868										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGCGTTAGATCCATGCTGGAT	0.627													14	32					0	0	0	0	T	42113133	C	T	42113133	3	4	192	1	0	0	0	0	1	0	0	0	9361	855	30	2	2693	2	MAPKBP1	15	42113133	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	8035093	42113133	60418259	371	33881											
SPG11	80208	broad.mit.edu	37	chr15	44921518	44921518	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaaaagtgtttgctttGgggttcagaataactttctc	9	17	9	6	0	3	2	1	1	2	1	4	2	3	2	0	2	2	3	0	2	4	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:44921518G>A	ENST00000261866.7	-	9	1820	c.1804C>T	c.(1804-1806)Caa>Taa	p.Q602*	SPG11_ENST00000559193.1_Nonsense_Mutation_p.Q602*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.Q602*|SPG11_ENST00000558319.1_Nonsense_Mutation_p.Q602*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.Q602*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	602					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGTTTGCTTTGGGGTTCAGAA	0.358													16	44					0	0	0	0	A	44921518	G	A	44921518	4	1	192	1	0	0	0	0	0	1	0	0	15131	1357	47	4	5655	4	SPG11	15	44921518	Nonsense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2808385	44921518	57609874	372	33882											
SQRDL	58472	broad.mit.edu	37	chr15	45965859	45965859	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatagggtcgaattattcaGttaagactgtagagaagaca	17	10	10	4	1	1	3	1	0	0	3	2	5	1	3	0	1	0	2	0	1	7	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:45965859G>C	ENST00000260324.7	+	5	900	c.514G>C	c.(514-516)Gtt>Ctt	p.V172L	RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.V172L|SQRDL_ENST00000568606.1_Missense_Mutation_p.V172L	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	172							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GAATTATTCAGTTAAGACTGT	0.418													45	93					0	0	0	0	C	45965859	G	C	45965859	3	2	192	1	0	0	0	0	1	0	0	0	15219	1029	36	4	528	4	SQRDL	15	45965859	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1044341	45965859	56565533	373	33883											
SLC24A5	283652	broad.mit.edu	37	chr15	48429025	48429025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggagagaagtgaacaacagCcactgatgggctgggaagat	14	6	15	6	0	0	4	0	2	0	2	0	7	0	6	1	3	3	1	1	3	4	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:48429025C>T	ENST00000341459.3	+	6	809	c.736C>T	c.(736-738)Cca>Tca	p.P246S	SLC24A5_ENST00000449382.2_Missense_Mutation_p.P186S	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	246					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TGAACAACAGCCACTGATGGG	0.418													11	27					0	0	0	0	T	48429025	C	T	48429025	3	4	192	1	0	0	0	0	1	0	0	0	14557	739	26	4	758	4	SLC24A5	15	48429025	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	2463166	48429025	54102367	374	33884											
UNC13C	440279	broad.mit.edu	37	chr15	54860126	54860126	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccttgataaagaaattcatAgatactcaaacctcacagag	17	9	6	9	0	3	4	3	1	0	3	3	4	3	4	2	0	2	0	2	0	6	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:54860126A>G	ENST00000545554.1	+	29	6087	c.6087A>G	c.(6085-6087)atA>atG	p.I2029M	UNC13C_ENST00000260323.11_Missense_Mutation_p.I2029M|UNC13C_ENST00000537900.1_Missense_Mutation_p.I2027M			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2029					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGAAATTCATAGATACTCAAA	0.328													3	6					0	0	0	0	G	54860126	A	G	54860126	3	3	192	1	0	0	0	0	1	0	0	0	17082	410	15	5	6197	5	UNC13C	15	54860126	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	6431101	54860126	47671266	375	33885											
GCOM1	145781	broad.mit.edu	37	chr15	57953656	57953656	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctttctagattgaatcAttaaagaaaaagttgcaaca	16	14	5	6	0	3	3	1	1	2	2	3	3	3	3	0	0	2	2	0	0	7	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:57953656A>G	ENST00000574161.1	+	11	1247	c.1128A>G	c.(1126-1128)tcA>tcG	p.S376S	GCOM1_ENST00000380568.3_Silent_p.S376S|GCOM1_ENST00000380569.2_Silent_p.S376S|GCOM1_ENST00000380560.2_Silent_p.S307S|GCOM1_ENST00000396180.1_Silent_p.S345S|MYZAP_ENST00000267853.5_Silent_p.S376S|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000587652.1_Silent_p.S376S|GCOM1_ENST00000572390.1_Intron|MYZAP_ENST00000380565.4_Intron|POLR2M_ENST00000380563.2_5'UTR	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		376					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AGATTGAATCATTAAAGAAAA	0.318													6	24					0	0	0	0	G	57953656	A	G	57953656	2	3	192	1	0	0	0	0	0	0	0	1	6354	204	8	5		5	GCOM1	15	57953656	Silent	SNP	A	TCGA-CR-7364-01A-11D-2012-08	3093530	57953656	44577736	376	33886											
VPS13C	54832	broad.mit.edu	37	chr15	62302756	62302756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagctctgattctgcataaGgattcatgtagagttttgca	10	15	10	6	0	3	3	1	2	2	1	3	4	3	4	0	1	3	5	0	1	2	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:62302756G>A	ENST00000261517.5	-	13	999	c.926C>T	c.(925-927)cCt>cTt	p.P309L	VPS13C_ENST00000395898.3_Missense_Mutation_p.P266L|VPS13C_ENST00000249837.3_Missense_Mutation_p.P266L|VPS13C_ENST00000395896.4_Missense_Mutation_p.P309L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	309					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTGCATAAGGATTCATGTA	0.373													22	65					0	0	0	0	A	62302756	G	A	62302756	3	1	192	1	0	0	0	0	1	0	0	0	17287	1000	35	4	10655	4	VPS13C	15	62302756	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4349100	62302756	40228636	377	33887											
KIAA0101	9768	broad.mit.edu	37	chr15	64673546	64673546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttctgtaagtgcctggaaCactgtctgctttagtccgca	7	15	9	10	1	2	0	0	0	2	0	3	1	3	1	2	1	3	3	2	1	3	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:64673546C>T	ENST00000300035.4	-	1	163	c.25G>A	c.(25-27)Gtt>Att	p.V9I	KIAA0101_ENST00000560234.1_Intron|KIAA0101_ENST00000380258.2_Missense_Mutation_p.V9I|KIAA0101_ENST00000558008.1_Missense_Mutation_p.V9I|KIAA0101_ENST00000559519.1_Missense_Mutation_p.V9I	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN	KIAA0101	9						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GTGCCTGGAACACTGTCTGCT	0.592													61	256					0	0	0	0	T	64673546	C	T	64673546	3	4	192	1	0	0	0	0	1	0	0	0	8206	478	17	4	351	4	KIAA0101	15	64673546	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	2370790	64673546	37857846	378	33888											
ANKDD1A	348094	broad.mit.edu	37	chr15	65239631	65239631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atctgccccacaggaccaccCcagtgatccctctgggaaga	10	6	9	16	0	2	2	0	1	2	1	3	4	3	4	6	2	1	0	6	2	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:65239631C>A	ENST00000380230.3	+	13	1198	c.1169C>A	c.(1168-1170)cCc>cAc	p.P390H	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.P358H|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.P390H|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.P267H	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	390					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CAGGACCACCCCAGTGATCCC	0.607													8	26					0.00307968	0.00341291	1	0	A	65239631	C	A	65239631	3	1	192	1	0	0	0	0	1	0	0	0	624	623	22	4	1219	4	ANKDD1A	15	65239631	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	566085	65239631	37291761	379	33889											
IGDCC4	57722	broad.mit.edu	37	chr15	65676728	65676728	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctccacctggttcctgcaGgctgggggtgacttcttcct	3	12	12	14	0	1	1	0	1	1	0	4	1	4	1	5	4	1	3	5	4	0	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:65676728G>T	ENST00000352385.2	-	20	3581	c.3372C>A	c.(3370-3372)gcC>gcA	p.A1124A	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1124						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGTTCCTGCAGGCTGGGGGTG	0.522													98	123					5.66435e-50	9.17567e-50	1	0	T	65676728	G	T	65676728	2	4	192	1	0	0	0	0	0	0	0	1	7622	987	35	4		4	IGDCC4	15	65676728	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	437097	65676728	36854664	380	33890											
SLC24A1	9187	broad.mit.edu	37	chr15	65916538	65916538	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcggttctacttatcagcaCcttaggagaccccggggcct	8	10	10	13	2	2	1	1	0	1	1	3	2	2	1	4	4	2	2	4	4	3	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:65916538C>T	ENST00000261892.6	+	2	407	c.120C>T	c.(118-120)caC>caT	p.H40H	SLC24A1_ENST00000544319.2_Silent_p.H40H|SLC24A1_ENST00000339868.6_Silent_p.H40H|SLC24A1_ENST00000399033.4_Silent_p.H40H|SLC24A1_ENST00000537259.1_Silent_p.H40H|SLC24A1_ENST00000546330.1_Silent_p.H40H	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	40					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTTATCAGCACCTTAGGAGAC	0.532													20	89					0	0	0	0	T	65916538	C	T	65916538	2	4	192	1	0	0	0	0	0	0	0	1	14553	506	18	4		4	SLC24A1	15	65916538	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	239810	65916538	36614854	381	33891											
TBC1D21	161514	broad.mit.edu	37	chr15	74178913	74178913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgcttctgcttccagcGtgccttcaagtccttcgatg	4	15	9	13	2	3	0	1	0	2	0	6	1	5	0	3	0	4	3	3	0	1	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:74178913G>T	ENST00000300504.2	+	8	820	c.737G>T	c.(736-738)cGt>cTt	p.R246L	TBC1D21_ENST00000562056.1_Missense_Mutation_p.R209L|TBC1D21_ENST00000535547.2_Missense_Mutation_p.R210L	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	246	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TGCTTCCAGCGTGCCTTCAAG	0.592													33	58					3.21399e-22	4.90598e-22	1	0	T	74178913	G	T	74178913	3	4	192	1	0	0	0	0	1	0	0	0	15701	1145	40	3	767	3	TBC1D21	15	74178913	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	8262375	74178913	28352479	382	33892											
CSK	1445	broad.mit.edu	37	chr15	75090969	75090969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgcaggccgcctggccatCcggtacagaatgtattgcca	8	9	11	13	2	0	1	0	0	0	1	1	1	1	1	5	3	3	3	5	3	3	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:75090969C>T	ENST00000220003.9	+	3	758	c.29C>T	c.(28-30)tCc>tTc	p.S10F	CSK_ENST00000439220.2_Missense_Mutation_p.S10F|CSK_ENST00000567571.1_Missense_Mutation_p.S10F|CSK_ENST00000309470.9_Missense_Mutation_p.S10F	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	10	Interaction with PTPN8 (By similarity).|SH3.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GCCTGGCCATCCGGTACAGAA	0.642													20	23					0	0	0	0	T	75090969	C	T	75090969	3	4	192	1	0	0	0	0	1	0	0	0	3975	855	30	2	35	2	CSK	15	75090969	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	912056	75090969	27440423	383	33893											
MAN2C1	4123	broad.mit.edu	37	chr15	75648457	75648457	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaccgccactcacaggatgGcctcctgaaccggcagcgac	10	4	10	17	3	1	1	1	1	0	0	2	3	2	2	5	3	2	1	5	3	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:75648457G>C	ENST00000565683.1	-	25	3052	c.3041C>G	c.(3040-3042)gCc>gGc	p.A1014G	MAN2C1_ENST00000563622.1_Missense_Mutation_p.A898G|MAN2C1_ENST00000267978.5_Missense_Mutation_p.A997G|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A974G	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	997					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TCACAGGATGGCCTCCTGAAC	0.672													10	49					0	0	0	0	C	75648457	G	C	75648457	3	2	192	1	0	0	0	0	1	0	0	0	9287	1203	42	4	140	4	MAN2C1	15	75648457	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	557488	75648457	26882935	384	33894											
NRG4	145957	broad.mit.edu	37	chr15	76254225	76254225	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaggaccgccaatgccacAaaagcttcaaacaggttact	15	7	7	12	1	1	0	1	0	0	0	1	1	1	1	3	2	4	2	3	2	6	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:76254225A>G	ENST00000394907.3	-	4	376	c.195T>C	c.(193-195)ttT>ttC	p.F65F	NRG4_ENST00000535975.1_Silent_p.F65F	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	65						extracellular region|integral to membrane|plasma membrane	growth factor activity			large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						CCAATGCCACAAAAGCTTCAA	0.393													100	97					0	0	0	0	G	76254225	A	G	76254225	2	3	192	1	0	0	0	0	0	0	0	1	10721	127	5	5		5	NRG4	15	76254225	Silent	SNP	A	TCGA-CR-7364-01A-11D-2012-08	605768	76254225	26277167	385	33895											
AP3B2	8120	broad.mit.edu	37	chr15	83328416	83328416	+	Silent	SNP	G	G	A																															tccagctggccgggcatccaGggtcagcagaacgaggcttc																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:83328416G>A	ENST00000261722.3	-	26	3352	c.3145C>T	c.(3145-3147)Ctg>Ttg	p.L1049L	AP3B2_ENST00000535348.1_Silent_p.L1017L|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.L1068L	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1049					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CGGGCATCCAGGGTCAGCAGA	0.562													14	43					0	0	0	0	A	83328416	G	A	83328416	2	1	192	1	0	0	0	0	0	0	0	1	746	991	35	4		4	AP3B2	15	83328416	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	7074191	83328416	19202976	386	33896	253	2									
AP3B2	8120	broad.mit.edu	37	chr15	83328417	83328417	+	Silent	SNP	G	G	T																															ccagctggccgggcatccagGgtcagcagaacgaggcttcc																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:83328417G>T	ENST00000261722.3	-	26	3351	c.3144C>A	c.(3142-3144)acC>acA	p.T1048T	AP3B2_ENST00000535348.1_Silent_p.T1016T|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.T1067T	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1048					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGCATCCAGGGTCAGCAGAA	0.562													14	42					1.5842e-08	2.01597e-08	1	0	T	83328417	G	T	83328417	2	4	192	1	0	0	0	0	0	0	0	1	746	1219	43	4		4	AP3B2	15	83328417	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1	83328417	19202975	387	33897	253	2									
NMB	4828	broad.mit.edu	37	chr15	85200448	85200448	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgaggctcacgcccagagCcttctttagcaggaggattc	8	9	12	12	1	2	2	1	1	1	1	3	4	2	4	2	3	2	3	2	3	1	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:85200448C>G	ENST00000394588.3	-	2	699	c.289G>C	c.(289-291)Gct>Cct	p.A97P	NMB_ENST00000360476.3_Missense_Mutation_p.A97P	NM_021077.3|NM_205858.1	NP_066563.2|NP_995580.1	P08949	NMB_HUMAN	neuromedin B	97					cell-cell signaling|neuropeptide signaling pathway	extracellular region|soluble fraction	hormone activity			endometrium(1)	1				all cancers(203;3.5e-06)		ACGCCCAGAGCCTTCTTTAGC	0.652													13	19					0	0	0	0	G	85200448	C	G	85200448	3	3	192	1	0	0	0	0	1	0	0	0	10556	739	26	4	188	4	NMB	15	85200448	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1872031	85200448	17330944	388	33898											
SLC28A1	9154	broad.mit.edu	37	chr15	85488082	85488082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatttaccagtgctgcCgtgaggccttccagaggtga	8	11	13	9	1	0	4	0	3	0	2	1	5	1	4	4	2	3	1	4	2	1	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:85488082C>T	ENST00000394573.1	+	18	2060	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Missense_Mutation_p.R620C|SLC28A1_ENST00000538177.1_Missense_Mutation_p.R454C|SLC28A1_ENST00000286749.3_Missense_Mutation_p.R620C	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	620					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCAGTGCTGCCGTGAGGCCTT	0.592													36	54					0	0	0	0	T	85488082	C	T	85488082	3	4	192	1	0	0	0	0	1	0	0	0	14619	652	23	1	1991	1	SLC28A1	15	85488082	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	287634	85488082	17043310	389	33899											
KLHL25	64410	broad.mit.edu	37	chr15	86312264	86312264	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgataagcttggtgcgctCgtctgccatgaggagggcct	7	10	14	10	2	1	2	0	2	1	0	2	3	1	3	2	3	3	2	2	3	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:86312264C>A	ENST00000337975.5	-	2	1052	c.778G>T	c.(778-780)Gag>Tag	p.E260*	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Nonsense_Mutation_p.E260*	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	260						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						TTGGTGCGCTCGTCTGCCATG	0.667													17	26					0.00074312	0.000833713	1	0	A	86312264	C	A	86312264	4	1	192	1	0	0	0	0	0	1	0	0	8432	893	31	3	995	3	KLHL25	15	86312264	Nonsense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	824182	86312264	16219128	390	33900											
NTRK3	4916	broad.mit.edu	37	chr15	88679705	88679705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgcctacctggtgaGtgttgatggactgcagccca	8	9	13	11	0	0	2	0	2	0	0	0	4	0	4	4	3	4	2	4	3	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:88679705G>T	ENST00000394480.1	-	8	1079	c.758C>A	c.(757-759)aCt>aAt	p.T253N	NTRK3_ENST00000360948.2_Missense_Mutation_p.T253N|NTRK3_ENST00000557856.1_Missense_Mutation_p.T253N|NTRK3_ENST00000357724.2_Missense_Mutation_p.T253N|NTRK3_ENST00000542733.2_Missense_Mutation_p.T155N|NTRK3_ENST00000355254.2_Missense_Mutation_p.T253N|NTRK3_ENST00000558676.1_Missense_Mutation_p.T253N|NTRK3_ENST00000540489.2_Missense_Mutation_p.T253N|NTRK3_ENST00000317501.3_Missense_Mutation_p.T253N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	253	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TACCTGGTGAGTGTTGATGGA	0.517			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			10	46					7.48243e-07	9.08478e-07	1	0	T	88679705	G	T	88679705	3	4	192	1	0	0	0	0	1	0	0	0	10779	1029	36	4	2075	4	NTRK3	15	88679705	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2367441	88679705	13851687	391	33901											
HAPLN3	145864	broad.mit.edu	37	chr15	89424727	89424727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgccgcaggtgcacGcggccttggtagtccccaaa	6	9	12	14	3	0	0	0	0	0	0	2	0	2	0	5	3	2	3	5	3	2	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:89424727G>A	ENST00000359595.3	-	3	568	c.354C>T	c.(352-354)cgC>cgT	p.R118R	HAPLN3_ENST00000562889.1_Silent_p.R180R	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	118	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GCAGGTGCACGCGGCCTTGGT	0.627													12	135					0	0	0	0	A	89424727	G	A	89424727	2	1	192	1	0	0	0	0	0	0	0	1	7006	1074	38	1		1	HAPLN3	15	89424727	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	745022	89424727	13106665	392	33902											
TARSL2	123283	broad.mit.edu	37	chr15	102201966	102201966	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctatcattctttccactgatCccaaaatggctcgatgaatg	11	13	6	11	1	2	2	1	2	1	0	5	3	4	2	2	1	0	1	2	1	4	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:102201966C>G	ENST00000335968.3	-	16	2237	c.2021G>C	c.(2020-2022)gGa>gCa	p.G674A	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	674					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCACTGATCCCAAAATGGC	0.308													7	41					0	0	0	0	G	102201966	C	G	102201966	3	3	192	1	0	0	0	0	1	0	0	0	15652	855	30	2	403	2	TARSL2	15	102201966	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	12777239	102201966	329426	393	33903											
CASKIN1	57524	broad.mit.edu	37	chr16	2235118	2235118	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaccccacctaccttgacGccttcagagcccgcgtgtag	8	8	8	17	3	1	2	1	1	0	1	1	2	1	2	6	0	3	1	6	0	3	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:2235118G>T	ENST00000343516.6	-	12	1325	c.1233C>A	c.(1231-1233)ggC>ggA	p.G411G		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	411	CASK-binding (By similarity).				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CTACCTTGACGCCTTCAGAGC	0.687													8	20					0.000157383	0.000180069	1	0	T	2235118	G	T	2235118	2	4	192	1	0	0	0	0	0	0	0	1	2691	1074	38	3		3	CASKIN1	16	2235118	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08		2235118	88119635	394	33904											
NUBP1	4682	broad.mit.edu	37	chr16	10861862	10861862	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccccagattccccagccAcgttagcctacagaagtata	12	7	7	15	2	0	2	0	0	0	2	1	2	1	2	6	0	3	2	6	0	5	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:10861862A>T	ENST00000283027.5	+	10	896	c.877A>T	c.(877-879)Acg>Tcg	p.T293S	NUBP1_ENST00000433392.2_Missense_Mutation_p.T282S|TVP23A_ENST00000299866.8_3'UTR|TVP23A_ENST00000572980.1_Intron	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1	293					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						TTCCCCAGCCACGTTAGCCTA	0.438													40	31					0	0	0	0	T	10861862	A	T	10861862	3	4	192	1	0	0	0	0	1	0	0	0	10786	159	6	5	915	5	NUBP1	16	10861862	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	8626744	10861862	79492891	395	33905											
ACSM5	54988	broad.mit.edu	37	chr16	20430566	20430566	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggactgtgatgattccGggtgtgactcagctgacaga	9	9	14	9	1	1	5	1	4	0	1	2	6	2	6	2	2	1	1	2	2	0	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:20430566G>T	ENST00000331849.4	+	4	579	c.432G>T	c.(430-432)ccG>ccT	p.P144P	ACSM5_ENST00000575584.1_Silent_p.P144P	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	144					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGATGATTCCGGGTGTGACTC	0.552													20	46					8.10497e-08	1.01312e-07	1	0	T	20430566	G	T	20430566	2	4	192	1	0	0	0	0	0	0	0	1	187	1103	39	3		3	ACSM5	16	20430566	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	9568704	20430566	69924187	396	33906											
TNRC6A	27327	broad.mit.edu	37	chr16	24816384	24816384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacacagcagcacaaccccGgggcatgcagcagcctccag	13	2	10	16	1	0	0	0	0	0	0	1	0	1	0	4	2	7	5	4	2	2	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:24816384G>A	ENST00000395799.3	+	14	4163	c.4034G>A	c.(4033-4035)cGg>cAg	p.R1345Q	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1296Q|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1345					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCACAACCCCGGGGCATGCAG	0.473													63	58					0	0	0	0	A	24816384	G	A	24816384	3	1	192	1	0	0	0	0	1	0	0	0	16434	1116	39	1	4088	1	TNRC6A	16	24816384	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4385818	24816384	65538369	397	33907											
ZNF48	197407	broad.mit.edu	37	chr16	30408665	30408665	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggtctagggagtgagAacgtgatttctcagccgaat	10	10	12	9	2	3	2	2	2	2	1	4	5	3	3	2	2	2	0	2	2	3	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:30408665A>T	ENST00000320159.2	+	2	470	c.94A>T	c.(94-96)Aac>Tac	p.N32Y		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGGGAGTGAGAACGTGATTTC	0.473													28	85					0	0	0	0	T	30408665	A	T	30408665	3	4	192	1	0	0	0	0	1	0	0	0	18029	246	9	5	100	5	ZNF48	16	30408665	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	5592281	30408665	59946088	398	33908											
NOD2	64127	broad.mit.edu	37	chr16	50745419	50745419	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccccagactcagcttccCaaggtctgggacccagtctt	7	8	8	18	0	3	1	1	0	2	1	4	2	4	2	5	2	1	1	5	2	1	2	rs147417132		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:50745419C>T	ENST00000300589.2	+	4	1702	c.1597C>T	c.(1597-1599)Caa>Taa	p.Q533*		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	533	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTCAGCTTCCCAAGGTCTGGG	0.617													30	39					0	0	0	0	T	50745419	C	T	50745419	4	4	192	1	0	0	0	0	0	1	0	0	10587	595	21	4	1611	4	NOD2	16	50745419	Nonsense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	20336754	50745419	39609334	399	33909											
ZFHX3	463	broad.mit.edu	37	chr16	72991344	72991344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctagagcaggcgtcatggCggccatgggcccggcgggat	7	5	17	12	4	1	1	1	0	0	1	1	2	1	2	3	6	1	1	3	6	1	1	rs148024459	by1000genomes	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:72991344C>G	ENST00000268489.5	-	2	3373	c.2701G>C	c.(2701-2703)Gcc>Ccc	p.A901P	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	901					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGCGTCATGGCGGCCATGGGC	0.547													59	42					0	0	0	0	G	72991344	C	G	72991344	3	3	192	1	0	0	0	0	1	0	0	0	17729	768	27	3	8446	3	ZFHX3	16	72991344	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	22245925	72991344	17363409	400	33910											
FOXC2	2303	broad.mit.edu	37	chr16	86602395	86602395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccctacagatccacgcCgcctctctatcgccacgcag	7	7	8	19	4	1	1	0	0	1	1	4	1	2	1	5	0	2	2	5	0	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:86602395C>A	ENST00000320354.4	+	1	1539	c.1454C>A	c.(1453-1455)cCg>cAg	p.P485Q		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	485					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						AGATCCACGCCGCCTCTCTAT	0.647									Late-onset Hereditary Lymphedema				39	25					8.16277e-20	1.21961e-19	1	0	A	86602395	C	A	86602395	3	1	192	1	0	0	0	0	1	0	0	0	6040	652	23	3	1456	3	FOXC2	16	86602395	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	13611051	86602395	3752358	401	33911											
MYO1C	4641	broad.mit.edu	37	chr17	1381744	1381744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccataaatatccaggaGcccgagaaccgtggtgctcc	13	6	10	12	2	0	1	0	0	0	1	2	3	2	2	5	2	4	1	5	2	5	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:1381744G>A	ENST00000359786.5	-	11	1579	c.1255C>T	c.(1255-1257)Ctc>Ttc	p.L419F	MYO1C_ENST00000575158.1_Missense_Mutation_p.L384F|MYO1C_ENST00000438665.2_Missense_Mutation_p.L400F|MYO1C_ENST00000545534.2_Missense_Mutation_p.L395F|MYO1C_ENST00000361007.2_Missense_Mutation_p.L384F	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	419	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATATCCAGGAGCCCGAGAACC	0.622													25	45					0	0	0	0	A	1381744	G	A	1381744	3	1	192	1	0	0	0	0	1	0	0	0	10140	971	34	4	2024	4	MYO1C	17	1381744	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08		1381744	79813466	402	33912											
TP53	7157	broad.mit.edu	37	chr17	7579433	7579433	+	Frame_Shift_Del	DEL	G	G	-																															gccaggagggggctggtgcaGgggccgccggtgtaggagct																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:7579433delG	ENST00000420246.2	-	4	386	c.254delC	c.(253-255)ctfs	p.P85fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.P85fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P85fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P85fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P85fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P85fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	85	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.A86fs*59(1)|p.P85fs*63(1)|p.P85fs*58(1)|p.D48fs*55(1)|p.A86fs*32(1)|p.P85fs*59(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.P85L(1)|p.A83fs*35(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCTGGTGCAGGGGCCGCCGG	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			40	57	---	---	---	---					-	7579433	G	-	7579433	7	5	192	1	0	1	0	1	0	0	0	0	16476	1000	35	0	1048	0	TP53	17	7579433	Frame_Shift_Del	DEL	G	TCGA-CR-7364-01A-11D-2012-08	6197689	7579433	73615777	403	33913											
MYH4	4622	broad.mit.edu	37	chr17	10355578	10355578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgggagaggtcagagcGctgcttctctgctttggccc	4	10	13	14	2	2	2	1	0	1	2	4	3	3	2	2	3	3	3	2	3	0	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:10355578G>T	ENST00000255381.2	-	27	3528	c.3418C>A	c.(3418-3420)Cgc>Agc	p.R1140S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1140					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGTCAGAGCGCTGCTTCTCT	0.582													48	72					2.46787e-29	3.87896e-29	1	0	T	10355578	G	T	10355578	3	4	192	1	0	0	0	0	1	0	0	0	10107	1087	38	3	2457	3	MYH4	17	10355578	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2776145	10355578	70839632	404	33914											
KIAA0100	9703	broad.mit.edu	37	chr17	26964893	26964893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacaagttcatgtcttcgaCcttcaagtccaccttccaca	12	11	4	14	1	3	0	2	0	1	0	6	1	5	0	4	0	1	1	4	0	3	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:26964893C>T	ENST00000528896.2	-	14	1806	c.1732G>A	c.(1732-1734)Gtc>Atc	p.V578I	KIAA0100_ENST00000544884.1_Missense_Mutation_p.V435I|KIAA0100_ENST00000389003.3_Missense_Mutation_p.V435I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	578						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ATGTCTTCGACCTTCAAGTCC	0.473													17	41					0	0	0	0	T	26964893	C	T	26964893	3	4	192	1	0	0	0	0	1	0	0	0	8205	507	18	4	5079	4	KIAA0100	17	26964893	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	16609315	26964893	54230317	405	33915											
ZNF207	7756	broad.mit.edu	37	chr17	30692368	30692368	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgcccccacctgttccAcgtcctggaattcctccaat	7	11	7	16	1	0	0	0	0	0	0	4	1	4	1	7	2	1	2	7	2	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:30692368A>T	ENST00000394670.4	+	8	859	c.690A>T	c.(688-690)ccA>ccT	p.P230P	ZNF207_ENST00000394673.2_Silent_p.P230P|ZNF207_ENST00000341711.6_Silent_p.P131P|ZNF207_ENST00000577908.1_Silent_p.P230P|ZNF207_ENST00000321233.6_Silent_p.P214P|ZNF207_ENST00000342555.6_Silent_p.P233P	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	214						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CACCTGTTCCACGTCCTGGAA	0.458													49	81					0	0	0	0	T	30692368	A	T	30692368	2	4	192	1	0	0	0	0	0	0	0	1	17860	146	6	5		5	ZNF207	17	30692368	Silent	SNP	A	TCGA-CR-7364-01A-11D-2012-08	3727475	30692368	50502842	406	33916											
CCL2	6347	broad.mit.edu	37	chr17	32582401	32582401	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgcccttctgtgcctgctGctcatagcagccaccttcat	5	11	8	17	1	3	0	2	0	1	0	3	0	3	0	5	0	5	3	5	0	1	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:32582401G>T	ENST00000225831.4	+	1	98	c.33G>T	c.(31-33)ctG>ctT	p.L11L	CCL2_ENST00000580907.1_Silent_p.L11L	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	11					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	TGTGCCTGCTGCTCATAGCAG	0.537													7	45					2.0095e-06	2.40307e-06	1	0	T	32582401	G	T	32582401	2	4	192	1	0	0	0	0	0	0	0	1	2918	1306	46	4		4	CCL2	17	32582401	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1890033	32582401	48612809	407	33917											
GHDC	84514	broad.mit.edu	37	chr17	40344951	40344951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggcctccccaaggtcctgGtttgaggtcgggggcagtgg	5	8	18	10	1	0	1	0	1	0	0	3	2	2	1	4	7	0	2	4	7	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:40344951G>C	ENST00000301671.8	-	3	801	c.360C>G	c.(358-360)aaC>aaG	p.N120K	GHDC_ENST00000436923.2_Missense_Mutation_p.N120K|GHDC_ENST00000428494.2_Intron|GHDC_ENST00000414034.3_Missense_Mutation_p.N120K|GHDC_ENST00000593209.1_Missense_Mutation_p.N120K|GHDC_ENST00000587427.1_Missense_Mutation_p.N120K			Q8N2G8	GHDC_HUMAN	GH3 domain containing	120						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CAAGGTCCTGGTTTGAGGTCG	0.592													44	120					0	0	0	0	C	40344951	G	C	40344951	3	2	192	1	0	0	0	0	1	0	0	0	6420	1252	44	4	1349	4	GHDC	17	40344951	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	7762550	40344951	40850259	408	33918											
STAT5B	6777	broad.mit.edu	37	chr17	40368065	40368065	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcattgtcccagagaacagtGgccgtcgcattgttgtcctg	7	11	12	11	2	0	1	0	0	0	1	3	2	2	1	3	1	1	3	3	1	1	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:40368065G>A	ENST00000293328.3	-	12	1608	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	480					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AGAGAACAGTGGCCGTCGCAT	0.522													12	18					0	0	0	0	A	40368065	G	A	40368065	2	1	192	1	0	0	0	0	0	0	0	1	15359	1335	47	4		4	STAT5B	17	40368065	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	23114	40368065	40827145	409	33919											
RUNDC3A	10900	broad.mit.edu	37	chr17	42390790	42390790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacatgatttccagggccGggcatggatccgggtggcac	8	8	15	10	2	0	2	0	2	0	0	2	3	2	3	3	5	1	2	3	5	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:42390790G>T	ENST00000426726.3	+	4	651	c.377G>T	c.(376-378)cGg>cTg	p.R126L	RUNDC3A_ENST00000590941.1_Missense_Mutation_p.R121L|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.R126L|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	126	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TTCCAGGGCCGGGCATGGATC	0.607													13	48					1.61879e-10	2.146e-10	1	0	T	42390790	G	T	42390790	3	4	192	1	0	0	0	0	1	0	0	0	13829	1116	39	3	391	3	RUNDC3A	17	42390790	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2022725	42390790	38804420	410	33920											
MAPT	4137	broad.mit.edu	37	chr17	44061110	44061110	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcacacccaacgtgcagaagGagcaggcgcactcggaggag	12	3	14	12	3	1	1	1	0	0	1	2	4	1	4	1	4	3	3	1	4	2	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:44061110G>C	ENST00000344290.5	+	6	1262	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	MAPT_ENST00000571987.1_Missense_Mutation_p.E314Q|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.E314Q|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.E314Q|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000431008.3_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	314					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	p.E314Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CGTGCAGAAGGAGCAGGCGCA	0.647													20	67					0	0	0	0	C	44061110	G	C	44061110	3	2	192	1	0	0	0	0	1	0	0	0	9366	1175	41	2	958	2	MAPT	17	44061110	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1670320	44061110	37134100	411	33921											
CHAD	1101	broad.mit.edu	37	chr17	48545852	48545852	+	Missense_Mutation	SNP	T	T	A																															gcagcacgcggatgtcgttaTgggacaggtacaagtagata																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:48545852T>A	ENST00000508540.1	-	1	475	c.323A>T	c.(322-324)cAt>cTt	p.H108L	ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000502667.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.H108L|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000541920.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	108					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GATGTCGTTATGGGACAGGTA	0.627													23	76					0	0	0	0	A	48545852	T	A	48545852	3	1	192	1	0	0	0	0	1	0	0	0	3339	1464	51	5	768	5	CHAD	17	48545852	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	4484742	48545852	32649358	412	33922	254	2									
CHAD	1101	broad.mit.edu	37	chr17	48545853	48545853	+	Missense_Mutation	SNP	G	G	T																															cagcacgcggatgtcgttatGggacaggtacaagtagataa																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:48545853G>T	ENST00000508540.1	-	1	474	c.322C>A	c.(322-324)Cat>Aat	p.H108N	ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000502667.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.H108N|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000541920.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	108					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ATGTCGTTATGGGACAGGTAC	0.627													23	78					9.57634e-11	1.27217e-10	1	0	T	48545853	G	T	48545853	3	4	192	1	0	0	0	0	1	0	0	0	3339	1348	47	4	769	4	CHAD	17	48545853	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1	48545853	32649357	413	33923	254	2									
CA10	56934	broad.mit.edu	37	chr17	50212253	50212253	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actcaccattctccctcaccCccaccatacacagttcatca	11	9	1	20	0	5	0	4	0	1	0	6	0	5	0	5	0	1	1	5	0	1	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:50212253C>G	ENST00000340813.6	-	2	494	c.65G>C	c.(64-66)gGg>gCg	p.G22A	CA10_ENST00000570565.1_Intron|CA10_ENST00000285273.4_Intron|CA10_ENST00000442502.2_Intron|CA10_ENST00000451037.2_Intron			Q9NS85	CAH10_HUMAN	carbonic anhydrase X	0					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			ctccctcacccccaccataca	0.557													20	74					0	0	0	0	G	50212253	C	G	50212253	3	3	192	1	0	0	0	0	1	0	0	0	2536	638	22	4		4	CA10	17	50212253	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1666400	50212253	30982957	414	33924											
TRIM25	7706	broad.mit.edu	37	chr17	54990924	54990924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgggcggctgcagcgggtgGtcctggaaggcggggctgtc	4	6	21	10	4	0	0	0	0	0	0	2	1	1	1	1	8	2	3	1	8	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:54990924G>A	ENST00000316881.4	-	1	475	c.426C>T	c.(424-426)gaC>gaT	p.D142D	TRIM25_ENST00000537230.1_Silent_p.D142D	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	142					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GCAGCGGGTGGTCCTGGAAGG	0.637													19	29					0	0	0	0	A	54990924	G	A	54990924	2	1	192	1	0	0	0	0	0	0	0	1	16594	1252	44	4		4	TRIM25	17	54990924	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4778671	54990924	26204286	415	33925											
ACE	1636	broad.mit.edu	37	chr17	61566111	61566111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatcctccagttttaccCgaaatacgtggaactcatca	12	10	6	13	2	2	0	2	0	0	0	4	2	4	1	4	1	4	1	4	1	4	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:61566111C>A	ENST00000577647.1	+	5	731	c.686C>A	c.(685-687)cCg>cAg	p.P229Q	ACE_ENST00000290863.6_Missense_Mutation_p.P229Q|ACE_ENST00000490216.2_Missense_Mutation_p.P229Q|ACE_ENST00000290866.4_Missense_Mutation_p.P803Q|ACE_ENST00000413513.3_Missense_Mutation_p.P229Q|ACE_ENST00000428043.1_Missense_Mutation_p.P803Q|ACE_ENST00000421982.2_Missense_Mutation_p.P113Q			P12821	ACE_HUMAN	angiotensin I converting enzyme	803	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.P803Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAGTTTTACCCGAAATACGTG	0.552													11	58					0.000673444	0.00075688	1	0	A	61566111	C	A	61566111	3	1	192	1	0	0	0	0	1	0	0	0	136	652	23	3	2673	3	ACE	17	61566111	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	6575187	61566111	19629099	416	33926											
ERN1	2081	broad.mit.edu	37	chr17	62121439	62121439	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtggctgcacagctccAtggcccggtaggtgtgtgcg	4	10	15	12	3	1	0	0	0	1	0	3	0	2	0	2	4	3	4	2	4	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:62121439A>G	ENST00000433197.2	-	22	2938	c.2843T>C	c.(2842-2844)aTg>aCg	p.M948T		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	948	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GCACAGCTCCATGGCCCGGTA	0.662													41	104					0	0	0	0	G	62121439	A	G	62121439	3	3	192	1	0	0	0	0	1	0	0	0	5275	217	8	5	94	5	ERN1	17	62121439	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	555328	62121439	19073771	417	33927											
KPNA2	3838	broad.mit.edu	37	chr17	66040510	66040510	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtggaacagttgaacagaTtgtgtaccttgttcactgtg	9	14	12	6	0	1	2	1	1	0	1	1	3	1	3	1	2	3	3	1	2	3	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:66040510T>A	ENST00000537025.2	+	9	1858	c.1238T>A	c.(1237-1239)aTt>aAt	p.I413N	KPNA2_ENST00000330459.3_Missense_Mutation_p.I413N			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	413					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTTGAACAGATTGTGTACCTT	0.388													61	184					0	0	0	0	A	66040510	T	A	66040510	3	1	192	1	0	0	0	0	1	0	0	0	8482	1493	52	5	1268	5	KPNA2	17	66040510	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	3919071	66040510	15154700	418	33928											
HGS	9146	broad.mit.edu	37	chr17	79662939	79662939	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggggccgcagcatcaccAatgactcggccgtgctctca	7	7	12	15	4	2	1	2	1	1	0	4	1	2	1	3	3	3	3	3	3	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:79662939A>G	ENST00000329138.4	+	15	1438	c.1303A>G	c.(1303-1305)Aat>Gat	p.N435D		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	435	Interaction with SNX1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGCATCACCAATGACTCGGC	0.622													15	46					0	0	0	0	G	79662939	A	G	79662939	3	3	192	1	0	0	0	0	1	0	0	0	7137	130	5	5	1361	5	HGS	17	79662939	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	13622429	79662939	1532271	419	33929											
DLGAP1	9229	broad.mit.edu	37	chr18	3879232	3879232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcacggtgagcgtggaggaCcaggcgctcttcttcagcag	7	8	14	12	3	4	1	2	1	2	0	4	3	4	3	1	4	2	2	1	4	0	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:3879232C>G	ENST00000315677.3	-	4	1432	c.837G>C	c.(835-837)tgG>tgC	p.W279C	DLGAP1_ENST00000515196.2_Missense_Mutation_p.W279C|DLGAP1_ENST00000581527.1_Missense_Mutation_p.W279C|DLGAP1_ENST00000584874.1_Missense_Mutation_p.W279C|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	279					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCGTGGAGGACCAGGCGCTCT	0.642													19	65					0	0	0	0	G	3879232	C	G	3879232	3	3	192	1	0	0	0	0	1	0	0	0	4596	508	18	4	2191	4	DLGAP1	18	3879232	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08		3879232	74198016	420	33930											
EPB41L3	23136	broad.mit.edu	37	chr18	5489138	5489138	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctggggctcggcctcCtggtccggcttggattccga	2	10	14	15	3	0	0	0	0	0	0	5	2	4	1	6	6	0	2	6	6	0	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:5489138C>T	ENST00000341928.2	-	2	385	c.45G>A	c.(43-45)caG>caA	p.Q15Q	EPB41L3_ENST00000544123.1_Silent_p.Q15Q|EPB41L3_ENST00000540638.2_Silent_p.Q15Q|EPB41L3_ENST00000400111.3_Silent_p.Q15Q|EPB41L3_ENST00000342933.3_Silent_p.Q15Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	15					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCTCGGCCTCCTGGTCCGGCT	0.667													21	75					0	0	0	0	T	5489138	C	T	5489138	2	4	192	1	0	0	0	0	0	0	0	1	5192	680	24	4		4	EPB41L3	18	5489138	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1609906	5489138	72588110	421	33931											
TMEM200C	645369	broad.mit.edu	37	chr18	5891714	5891714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacaccccctggagccctagGgtggctcctggaccggtttt	5	9	13	14	1	0	0	0	0	0	0	1	3	1	2	5	5	1	2	5	5	1	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:5891714G>T	ENST00000581347.1	-	3	994	c.349C>A	c.(349-351)Cct>Act	p.P117T	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.P117T			A6NKL6	T200C_HUMAN	transmembrane protein 200C	117						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGAGCCCTAGGGTGGCTCCTG	0.706													19	81					6.33239e-15	8.9556e-15	1	0	T	5891714	G	T	5891714	3	4	192	1	0	0	0	0	1	0	0	0	16219	1232	43	4	1520	4	TMEM200C	18	5891714	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	402576	5891714	72185534	422	33932											
LAMA1	284217	broad.mit.edu	37	chr18	6955459	6955459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgcatccaccacacaCtgttcctgtaagagacacac	13	7	7	14	0	0	2	0	0	0	2	2	3	2	2	3	0	2	4	3	0	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:6955459C>T	ENST00000389658.3	-	57	8193	c.8100G>A	c.(8098-8100)caG>caA	p.Q2700Q	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2700					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACCACACACTGTTCCTGTA	0.557													18	13					0	0	0	0	T	6955459	C	T	6955459	2	4	192	1	0	0	0	0	0	0	0	1	8658	564	20	4		4	LAMA1	18	6955459	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1063745	6955459	71121789	423	33933											
GATA6	2627	broad.mit.edu	37	chr18	19761485	19761485	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaccttatggcgcagaaaCgccgagggtgaacccgtgtg	10	6	13	12	4	0	2	0	1	0	1	0	3	0	2	4	2	2	1	4	2	3	1	rs143026087	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:19761485C>T	ENST00000269216.3	+	4	1651	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N	GATA6_ENST00000581694.1_Silent_p.N458N	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	458					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GGCGCAGAAACGCCGAGGGTG	0.473													4	70					0	0	0	0	T	19761485	C	T	19761485	2	4	192	1	0	0	0	0	0	0	0	1	6307	535	19	1		1	GATA6	18	19761485	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	12806026	19761485	58315763	424	33934											
MBD1	4152	broad.mit.edu	37	chr18	47803478	47803478	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgggggctggatagcaCaagatgccttgtttgaagtc	9	11	13	8	0	0	2	0	1	0	1	1	3	0	3	2	3	2	3	2	3	3	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:47803478C>G	ENST00000591416.1	-	3	638	c.207G>C	c.(205-207)ttG>ttC	p.L69F	MBD1_ENST00000590208.1_Missense_Mutation_p.L69F|MBD1_ENST00000591535.1_Missense_Mutation_p.L69F|MBD1_ENST00000347968.3_Missense_Mutation_p.L69F|MBD1_ENST00000339998.6_Missense_Mutation_p.L69F|MBD1_ENST00000436910.1_Missense_Mutation_p.L69F|MBD1_ENST00000424334.2_Missense_Mutation_p.L95F|MBD1_ENST00000398488.1_Missense_Mutation_p.L69F|MBD1_ENST00000398493.1_Missense_Mutation_p.L69F|MBD1_ENST00000588937.1_Missense_Mutation_p.L69F|MBD1_ENST00000587605.1_Missense_Mutation_p.L69F|MBD1_ENST00000382948.5_Missense_Mutation_p.L69F|MBD1_ENST00000353909.3_Missense_Mutation_p.L69F|MBD1_ENST00000349085.2_Missense_Mutation_p.L69F|MBD1_ENST00000398495.2_Missense_Mutation_p.L69F|MBD1_ENST00000269468.5_Missense_Mutation_p.L69F|MBD1_ENST00000269471.5_Missense_Mutation_p.L69F|MBD1_ENST00000585672.1_Missense_Mutation_p.L69F|MBD1_ENST00000585595.1_Missense_Mutation_p.L69F|MBD1_ENST00000457839.2_Missense_Mutation_p.L69F			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	69	MBD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTGGATAGCACAAGATGCCTT	0.537													10	41					0	0	0	0	G	47803478	C	G	47803478	3	3	192	1	0	0	0	0	1	0	0	0	9411	477	17	4	1860	4	MBD1	18	47803478	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	28041993	47803478	30273770	425	33935											
ST8SIA3	51046	broad.mit.edu	37	chr18	55020099	55020099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaactgcaaaatggccCgggtcgccagtgtgctgggg	9	7	16	9	2	0	1	0	1	0	1	1	2	0	1	2	4	3	2	2	4	3	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:55020099C>T	ENST00000324000.3	+	1	2056	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	8					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CAAAATGGCCCGGGTCGCCAG	0.572													15	34					0	0	0	0	T	55020099	C	T	55020099	3	4	192	1	0	0	0	0	1	0	0	0	15323	643	23	1	24	1	ST8SIA3	18	55020099	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	7216621	55020099	23057149	426	33936											
MC4R	4160	broad.mit.edu	37	chr18	58039143	58039143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catagaagatagtaaagtacCtgtccactgcaattgaaagc	16	9	8	8	0	0	3	0	1	0	2	1	3	1	3	2	0	3	3	2	0	8	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:58039143C>A	ENST00000299766.3	-	1	858	c.440G>T	c.(439-441)aGg>aTg	p.R147M		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	147					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				AGTAAAGTACCTGTCCACTGC	0.433													13	49					5.50884e-06	6.49e-06	1	0	A	58039143	C	A	58039143	3	1	192	1	0	0	0	0	1	0	0	0	9435	681	24	4	562	4	MC4R	18	58039143	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	3019044	58039143	20038105	427	33937											
NETO1	81832	broad.mit.edu	37	chr18	70526311	70526311	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcactgtcttggagcggcTgtaaagaagaaagattgtgt	12	11	13	5	1	1	3	0	0	1	3	1	4	1	4	0	2	2	3	0	2	4	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:70526311T>A	ENST00000327305.6	-	4	878		c.e4-2		NETO1_ENST00000580049.1_Splice_Site|NETO1_ENST00000299430.2_Splice_Site|NETO1_ENST00000397929.1_Splice_Site|NETO1_ENST00000583169.1_Splice_Site	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1						memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TTGGAGCGGCTGTAAAGAAGA	0.368													9	48					0	0	0	0	A	70526311	T	A	70526311	5	1	192	1	0	0	0	0	0	0	1	0	10409	1594	55	5	1419	5	NETO1	18	70526311	Splice_Site	SNP	T	TCGA-CR-7364-01A-11D-2012-08	12487168	70526311	7550937	428	33938											
ZNF407	55628	broad.mit.edu	37	chr18	72344576	72344576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtgcttgtacagactgtgGgcaagtagctacaaatagga	12	10	13	6	0	0	1	0	0	0	1	0	2	0	2	0	2	4	5	0	2	6	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:72344576G>T	ENST00000299687.5	+	1	1601	c.1601G>T	c.(1600-1602)gGg>gTg	p.G534V	ZNF407_ENST00000582337.1_Missense_Mutation_p.G534V|ZNF407_ENST00000577538.1_Missense_Mutation_p.G534V|ZNF407_ENST00000309902.6_Missense_Mutation_p.G534V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACAGACTGTGGGCAAGTAGCT	0.517													71	183					4.60868e-44	7.4466e-44	1	0	T	72344576	G	T	72344576	3	4	192	1	0	0	0	0	1	0	0	0	17982	1232	43	4	1603	4	ZNF407	18	72344576	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1818265	72344576	5732672	429	33939											
SGTA	6449	broad.mit.edu	37	chr19	2757733	2757733	+	Missense_Mutation	SNP	C	C	A																															cgttctgcgaggggctggtgCcgggagttcccaaggggttg																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:2757733C>A	ENST00000221566.2	-	10	946	c.785G>T	c.(784-786)gGc>gTc	p.G262V		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	262					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		GGGGCTGGTGCCGGGAGTTCC	0.677													4	7					0.00024832	0.000282081	1	0	A	2757733	C	A	2757733	3	1	192	1	0	0	0	0	1	0	0	0	14312	739	26	4	164	4	SGTA	19	2757733	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08		2757733	56371250	430	33940	255	2									
SGTA	6449	broad.mit.edu	37	chr19	2757734	2757734	+	Missense_Mutation	SNP	C	C	A																															gttctgcgaggggctggtgcCgggagttcccaaggggttgt																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:2757734C>A	ENST00000221566.2	-	10	945	c.784G>T	c.(784-786)Ggc>Tgc	p.G262C		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	262					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		GGGCTGGTGCCGGGAGTTCCC	0.677													4	6					0.00024832	0.000282081	1	0	A	2757734	C	A	2757734	3	1	192	1	0	0	0	0	1	0	0	0	14312	652	23	3	165	3	SGTA	19	2757734	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1	2757734	56371249	431	33941	255	2									
CHAF1A	10036	broad.mit.edu	37	chr19	4442304	4442304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaagaggaggagggCgactgtatgatcgtggatgt	11	7	20	3	2	0	2	0	1	0	1	1	9	0	7	0	6	0	1	0	6	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:4442304C>T	ENST00000301280.5	+	14	2837	c.2736C>T	c.(2734-2736)ggC>ggT	p.G912G		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	912	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		aggaggaggGCGACTGTATGA	0.592								Chromatin Structure					7	13					0	0	0	0	T	4442304	C	T	4442304	2	4	192	1	0	0	0	0	0	0	0	1	3340	755	27	1		1	CHAF1A	19	4442304	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1684570	4442304	54686679	432	33942											
MLLT1	4298	broad.mit.edu	37	chr19	6230694	6230694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccaggttcaggaacaggtCgtaggtgaagcagaccttcc	10	9	12	10	1	1	2	1	1	0	1	4	3	3	3	3	4	2	3	3	4	3	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:6230694C>T	ENST00000252674.7	-	4	470	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	103	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGGAACAGGTCGTAGGTGAAG	0.582			T	MLL	AL								46	99					0	0	0	0	T	6230694	C	T	6230694	3	4	192	1	0	0	0	0	1	0	0	0	9694	884	31	1	1408	1	MLLT1	19	6230694	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1788390	6230694	52898289	433	33943											
MUC16	94025	broad.mit.edu	37	chr19	8969277	8969277	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataccacccccttctcaccGcatcctcaatattccttttg	8	13	2	18	1	2	0	2	0	1	0	5	0	4	0	6	0	1	1	6	0	3	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:8969277G>T	ENST00000397910.4	-	79	43270	c.43068_splice	c.e79+1	p.A14356_splice	MUC16_ENST00000380951.5_Splice_Site_p.A997_splice	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14452	SEA 15.			Missing (in Ref. 3; AAK74120).	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						CCTTCTCACCGCATCCTCAAT	0.468													21	61					3.83957e-06	4.55725e-06	1	0	T	8969277	G	T	8969277	5	4	192	1	0	0	0	0	0	0	1	0	10043	1101	38	3	480	3	MUC16	19	8969277	Splice_Site	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2738583	8969277	50159706	434	33944											
MUC16	94025	broad.mit.edu	37	chr19	9059669	9059669	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacatttgtatctcctgtGgggtaggtgatacccattga	10	13	11	7	0	1	3	0	2	1	1	2	3	1	3	2	3	2	2	2	3	4	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:9059669G>T	ENST00000397910.4	-	3	27980	c.27777C>A	c.(27775-27777)ccC>ccA	p.P9259P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9261	Ser-rich.|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						TATCTCCTGTGGGGTAGGTGA	0.468													32	43					3.99451e-17	5.8445e-17	1	0	T	9059669	G	T	9059669	2	4	192	1	0	0	0	0	0	0	0	1	10043	1335	47	4		4	MUC16	19	9059669	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	90392	9059669	50069314	435	33945											
ZNF560	147741	broad.mit.edu	37	chr19	9578043	9578043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatacgaagacaggcagaaGaggtaaatggtttcccacat	16	7	11	7	1	0	3	0	0	0	3	1	5	1	3	1	3	1	3	1	3	6	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:9578043G>A	ENST00000301480.4	-	10	1793	c.1580C>T	c.(1579-1581)tCt>tTt	p.S527F		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACAGGCAGAAGAGGTAAATGG	0.398													36	35					0	0	0	0	A	9578043	G	A	9578043	3	1	192	1	0	0	0	0	1	0	0	0	18086	942	33	2	796	2	ZNF560	19	9578043	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	518374	9578043	49550940	436	33946											
PIK3R2	5296	broad.mit.edu	37	chr19	18278076	18278076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatgaacagcctcaagccgGacctcatgcagctgcgcaag	11	5	11	14	2	2	1	2	1	0	0	2	2	2	2	3	1	6	4	3	1	3	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:18278076G>T	ENST00000593731.1	+	13	2256	c.1696G>T	c.(1696-1698)Gac>Tac	p.D566Y	PIK3R2_ENST00000222254.7_Missense_Mutation_p.D566Y			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	566					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CCTCAAGCCGGACCTCATGCA	0.622													16	42					6.94344e-10	9.0909e-10	1	0	T	18278076	G	T	18278076	3	4	192	1	0	0	0	0	1	0	0	0	11991	1174	41	2	1742	2	PIK3R2	19	18278076	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	8700033	18278076	40850907	437	33947											
ZNF253	56242	broad.mit.edu	37	chr19	20002666	20002666	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccttacagatgtgaaGaatgtggcaaagcttttaac	16	10	9	6	0	0	4	0	1	0	3	0	4	0	4	1	1	4	2	1	1	6	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:20002666G>T	ENST00000589717.1	+	4	702	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	ZNF253_ENST00000355650.4_Nonsense_Mutation_p.E128*	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	204					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGATGTGAAGAATGTGGCAA	0.373													11	28					5.16669e-11	6.90704e-11	1	0	T	20002666	G	T	20002666	4	4	192	1	0	0	0	0	0	1	0	0	17892	943	33	2	624	2	ZNF253	19	20002666	Nonsense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1724590	20002666	39126317	438	33948											
ZNF99	7652	broad.mit.edu	37	chr19	22940345	22940345	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccacattcttcacatttaTagggtttctttccagtatga	9	17	6	9	0	3	1	1	1	2	0	4	1	4	1	2	1	1	2	2	1	3	8			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:22940345T>A	ENST00000397104.3	-	5	2092	c.2093A>T	c.(2092-2094)tAt>tTt	p.Y698F	ZNF99_ENST00000596209.1_Missense_Mutation_p.Y789F					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTATAGGGTTTCTT	0.353													14	30					0	0	0	0	A	22940345	T	A	22940345	3	1	192	1	0	0	0	0	1	0	0	0	18297	1406	49	5	1031	5	ZNF99	19	22940345	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	2937679	22940345	36188638	439	33949											
ZNF99	7652	broad.mit.edu	37	chr19	22940512	22940512	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaccacattcttcacatttGtagggtttctctccagtatg	8	17	6	10	0	3	0	1	0	2	0	5	0	4	0	2	1	1	3	2	1	3	7			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:22940512G>T	ENST00000397104.3	-	5	1925	c.1926C>A	c.(1924-1926)taC>taA	p.Y642*	ZNF99_ENST00000596209.1_Nonsense_Mutation_p.Y733*					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTCACATTTGTAGGGTTTCT	0.378													5	34					5.9392e-07	7.25268e-07	1	0	T	22940512	G	T	22940512	4	4	192	1	0	0	0	0	0	1	0	0	18297	1372	48	4	1198	4	ZNF99	19	22940512	Nonsense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	167	22940512	36188471	440	33950											
TIMM50	92609	broad.mit.edu	37	chr19	39976376	39976376	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctcccagaccctctgcagGaaccgtactaccagccaccc	9	7	6	19	1	2	1	0	0	2	1	3	2	2	2	6	1	5	2	6	1	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:39976376G>T	ENST00000314349.4	+	6	863	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000607714.1_Nonsense_Mutation_p.E141*|TIMM50_ENST00000544017.1_Nonsense_Mutation_p.E28*	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	141	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCTCTGCAGGAACCGTACTA	0.627													16	75					6.49762e-13	8.96954e-13	1	0	T	39976376	G	T	39976376	4	4	192	1	0	0	0	0	0	1	0	0	16007	1175	41	2	752	2	TIMM50	19	39976376	Nonsense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	17035864	39976376	19152607	441	33951											
LGALS13	29124	broad.mit.edu	37	chr19	40095319	40095319	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaatccactcttttatGtgagtactccatggtccaat	11	13	5	12	0	1	1	0	1	1	0	4	1	4	1	4	1	1	1	4	1	4	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:40095319G>C	ENST00000221797.4	+	2	137		c.e2+1			NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13						lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			ACTCTTTTATGTGAGTACTCC	0.453													39	114					0	0	0	0	C	40095319	G	C	40095319	5	2	192	1	0	0	0	0	0	0	1	0	8793	1391	48	4	99	4	LGALS13	19	40095319	Splice_Site	SNP	G	TCGA-CR-7364-01A-11D-2012-08	118943	40095319	19033664	442	33952											
CLC	1178	broad.mit.edu	37	chr19	40222130	40222130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaaggtgtaagaggattGgccattgaccattacctaca	13	10	10	8	0	1	2	1	1	0	1	1	3	1	3	3	3	2	1	3	3	4	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:40222130G>T	ENST00000221804.4	-	4	394	c.319C>A	c.(319-321)Caa>Aaa	p.Q107K		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	107	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		TAAGAGGATTGGCCATTGACC	0.413													40	154					4.07013e-28	6.3502e-28	1	0	T	40222130	G	T	40222130	3	4	192	1	0	0	0	0	1	0	0	0	3486	1357	47	4	113	4	CLC	19	40222130	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	126811	40222130	18906853	443	33953											
FCGBP	8857	broad.mit.edu	37	chr19	40357440	40357440	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagatgtggacctggccCacagcctccgttttgccatg	9	9	11	12	1	0	2	0	0	0	2	1	3	1	3	5	2	2	1	5	2	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:40357440C>A	ENST00000221347.6	-	34	15880	c.15873G>T	c.(15871-15873)gtG>gtT	p.V5291V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5291	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACCTGGCCCACAGCCTCCG	0.547													21	71					1.2644e-06	1.51776e-06	1	0	A	40357440	C	A	40357440	2	1	192	1	0	0	0	0	0	0	0	1	5823	581	21	4		4	FCGBP	19	40357440	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	135310	40357440	18771543	444	33954											
FCGBP	8857	broad.mit.edu	37	chr19	40395926	40395926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctgcaggacggcaaaccGatgtaggccaggccgggtgc	8	5	15	13	3	0	0	0	0	0	0	1	2	1	1	4	5	3	3	4	5	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:40395926G>A	ENST00000221347.6	-	15	7478	c.7471C>T	c.(7471-7473)Cgg>Tgg	p.R2491W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2491	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGGCAAACCGATGTAGGCCA	0.627													5	259					0	0	0	0	A	40395926	G	A	40395926	3	1	192	1	0	0	0	0	1	0	0	0	5823	1057	37	1	8834	1	FCGBP	19	40395926	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	38486	40395926	18733057	445	33955											
CEACAM7	1087	broad.mit.edu	37	chr19	42187951	42187951	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatatctttgttctccacCggattgaagttgttgctggt	8	16	9	8	1	2	1	0	1	2	0	3	2	2	2	2	2	1	4	2	2	3	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:42187951C>A	ENST00000006724.3	-	3	672	c.471G>T	c.(469-471)ccG>ccT	p.P157P	CEACAM7_ENST00000401731.1_Silent_p.P157P|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	157	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGTTCTCCACCGGATTGAAGT	0.522													43	114					1.15183e-24	1.77959e-24	1	0	A	42187951	C	A	42187951	2	1	192	1	0	0	0	0	0	0	0	1	3226	639	23	3		3	CEACAM7	19	42187951	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	1792025	42187951	16941032	446	33956											
ARHGEF1	9138	broad.mit.edu	37	chr19	42406968	42406968	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcggtgccgccgcctgcAgctgaaggacatgatcccca	7	5	12	17	4	0	2	0	2	0	0	1	3	1	3	6	2	3	2	6	2	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:42406968A>T	ENST00000599846.1	+	19	1951	c.1826A>T	c.(1825-1827)cAg>cTg	p.Q609L	ARHGEF1_ENST00000354532.3_Missense_Mutation_p.Q553L|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.Q535L|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.Q520L|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.Q568L			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	553					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CGCCGCCTGCAGCTGAAGGAC	0.662													23	60					0	0	0	0	T	42406968	A	T	42406968	3	4	192	1	0	0	0	0	1	0	0	0	895	188	7	5	1773	5	ARHGEF1	19	42406968	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	219017	42406968	16722015	447	33957											
PSG11	5680	broad.mit.edu	37	chr19	43529172	43529172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcttcaatcatgacttggGcagtggtaggcaagttccag	9	10	14	8	0	2	1	2	1	0	0	3	1	3	1	1	4	0	5	1	4	3	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:43529172G>T	ENST00000401740.1	-	2	204	c.101C>A	c.(100-102)gCc>gAc	p.A34D	PSG11_ENST00000320078.7_Missense_Mutation_p.A34D|PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	34					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CATGACTTGGGCAGTGGTAGG	0.478													64	189					8.81991e-31	1.39319e-30	1	0	T	43529172	G	T	43529172	3	4	192	1	0	0	0	0	1	0	0	0	12733	1203	42	4	922	4	PSG11	19	43529172	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1122204	43529172	15599811	448	33958											
ZNF222	7673	broad.mit.edu	37	chr19	44536052	44536052	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaagcaaatttgggaacaAattgcaagtgacttaaccag	16	9	9	7	0	0	1	0	1	0	0	0	2	0	2	1	1	5	3	1	1	6	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:44536052A>G	ENST00000187879.8	+	4	387	c.225A>G	c.(223-225)caA>caG	p.Q75Q	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Silent_p.Q115Q	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TTTGGGAACAAATTGCAAGTG	0.403													21	54					0	0	0	0	G	44536052	A	G	44536052	2	3	192	1	0	0	0	0	0	0	0	1	17871	11	1	5		5	ZNF222	19	44536052	Silent	SNP	A	TCGA-CR-7364-01A-11D-2012-08	1006880	44536052	14592931	449	33959											
ZNF285	26974	broad.mit.edu	37	chr19	44890987	44890987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgtgaactctctgatGagtgtgaagaacagagctat	12	11	11	7	0	1	6	0	4	1	2	3	6	2	6	1	0	3	1	1	0	4	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:44890987G>T	ENST00000330997.4	-	4	1484	c.1420C>A	c.(1420-1422)Cat>Aat	p.H474N	ZNF285_ENST00000544719.2_Missense_Mutation_p.H474N|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.H481N	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACTCTCTGATGAGTGTGAAGA	0.398													30	75					7.26314e-15	1.02264e-14	1	0	T	44890987	G	T	44890987	3	4	192	1	0	0	0	0	1	0	0	0	17917	1290	45	2	356	2	ZNF285	19	44890987	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	354935	44890987	14237996	450	33960											
IGFL4	444882	broad.mit.edu	37	chr19	46543550	46543550	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcagggccagaaggtgcaGctggagccgcagagccgggt	10	3	18	10	2	0	2	0	0	0	2	0	3	0	3	3	4	5	4	3	4	2	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:46543550G>T	ENST00000601672.1	-	0	418				IGFL4_ENST00000377697.1_Missense_Mutation_p.S65R			Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4							extracellular region				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		AGAAGGTGCAGCTGGAGCCGC	0.597													20	53					8.81451e-21	1.32322e-20	1	0	T	46543550	G	T	46543550	1	4	192	1	0	0	0	0	0	0	0	0	7642	962	34	4		4	IGFL4	19	46543550	Translation_Start_Site	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1652563	46543550	12585433	451	33961											
DHX34	9704	broad.mit.edu	37	chr19	47884120	47884120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctagaagtccagaacatGtatgtgggaccccagaccat	12	7	12	10	0	0	3	0	0	0	3	1	4	1	4	4	2	1	2	4	2	4	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:47884120G>T	ENST00000328771.4	+	15	3379	c.3030G>T	c.(3028-3030)atG>atT	p.M1010I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1010						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TCCAGAACATGTATGTGGGAC	0.602													17	67					3.57192e-18	5.29947e-18	1	0	T	47884120	G	T	47884120	3	4	192	1	0	0	0	0	1	0	0	0	4544	1377	48	4	3084	4	DHX34	19	47884120	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1340570	47884120	11244863	452	33962											
ZNF350	59348	broad.mit.edu	37	chr19	52468462	52468462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttatgcttaaccagacacGacatatacgcaaacgctttc	13	11	5	12	3	1	1	0	0	1	1	2	2	1	1	1	0	4	3	1	0	5	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:52468462G>A	ENST00000243644.4	-	5	1471	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	415					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AACCAGACACGACATATACGC	0.473													21	49					0	0	0	0	A	52468462	G	A	52468462	3	1	192	1	0	0	0	0	1	0	0	0	17958	1059	37	1	358	1	ZNF350	19	52468462	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	4584342	52468462	6660521	453	33963											
ZNF350	59348	broad.mit.edu	37	chr19	52468703	52468703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgaaatctctgatgtgCtatgagacacgtcttctgaa	10	14	10	7	1	3	4	0	4	3	1	4	5	3	4	0	0	1	1	0	0	3	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:52468703C>T	ENST00000243644.4	-	5	1230	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	335					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CTCTGATGTGCTATGAGACAC	0.393													19	68					0	0	0	0	T	52468703	C	T	52468703	3	4	192	1	0	0	0	0	1	0	0	0	17958	797	28	4	599	4	ZNF350	19	52468703	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	241	52468703	6660280	454	33964											
TMC4	147798	broad.mit.edu	37	chr19	54668180	54668180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgcacctgcagctccacGgtgcaccccgtagcccagta	7	6	10	18	3	0	0	0	0	0	0	2	0	2	0	6	1	4	6	6	1	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:54668180G>A	ENST00000376591.4	-	7	1250	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	TMC4_ENST00000301187.4_Silent_p.T367T	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	373						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCAGCTCCACGGTGCACCCCG	0.632													55	134					0	0	0	0	A	54668180	G	A	54668180	2	1	192	1	0	0	0	0	0	0	0	1	16081	1103	39	1		1	TMC4	19	54668180	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	2199477	54668180	4460803	455	33965											
LAIR1	3903	broad.mit.edu	37	chr19	54867571	54867571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaaggctcaccgaggtgtCcgtctctctgtccttctcag	6	11	11	13	2	4	0	2	0	3	0	8	2	6	1	3	3	0	1	3	3	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:54867571C>A	ENST00000391743.3	-	8	935	c.655G>T	c.(655-657)Gac>Tac	p.D219Y	LAIR1_ENST00000313038.6_Missense_Mutation_p.D230Y|LAIR1_ENST00000474878.1_Missense_Mutation_p.D219Y|LAIR1_ENST00000434277.2_Missense_Mutation_p.D236Y|LAIR1_ENST00000348231.4_Missense_Mutation_p.D220Y|LAIR1_ENST00000391742.2_Missense_Mutation_p.D237Y			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	237						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACCGAGGTGTCCGTCTCTCTG	0.468													24	81					7.4402e-23	1.14119e-22	1	0	A	54867571	C	A	54867571	3	1	192	1	0	0	0	0	1	0	0	0	8655	855	30	2	162	2	LAIR1	19	54867571	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	199391	54867571	4261412	456	33966											
LILRA2	11027	broad.mit.edu	37	chr19	55087020	55087020	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggacatcctgatcacagGtgaggagcccagcgggttca	9	7	13	12	1	2	2	2	2	0	0	3	4	3	4	3	4	2	1	3	4	0	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55087020G>T	ENST00000251377.3	+	6	1085		c.e6+1		LILRA2_ENST00000251376.3_Splice_Site|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Splice_Site|LILRA2_ENST00000391738.3_Splice_Site|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTGATCACAGGTGAGGAGCCC	0.662													19	67					4.35082e-09	5.62682e-09	1	0	T	55087020	G	T	55087020	5	4	192	1	0	0	0	0	0	0	1	0	8839	1275	44	4	971	4	LILRA2	19	55087020	Splice_Site	SNP	G	TCGA-CR-7364-01A-11D-2012-08	219449	55087020	4041963	457	33967											
LILRA1	11024	broad.mit.edu	37	chr19	55106733	55106733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcacagccccgtacccatgGgtggtcccgggccatcttct	5	9	10	17	2	3	0	1	0	2	0	4	0	4	0	5	3	2	1	5	3	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55106733G>T	ENST00000453777.1	+	5	697	c.527G>T	c.(526-528)gGg>gTg	p.G176V	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.G176V	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	176	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CGTACCCATGGGTGGTCCCGG	0.562													43	165					1.47197e-15	2.10045e-15	1	0	T	55106733	G	T	55106733	3	4	192	1	0	0	0	0	1	0	0	0	8838	1232	43	4	541	4	LILRA1	19	55106733	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	19713	55106733	4022250	458	33968											
LILRB1	10859	broad.mit.edu	37	chr19	55143548	55143548	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgaactcccagccccatgCccgtgggtcgtcccgcgcca	5	6	10	20	4	0	1	0	1	0	0	3	1	2	1	7	1	3	0	7	1	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55143548C>G	ENST00000396331.1	+	6	878	c.521C>G	c.(520-522)gCc>gGc	p.A174G	LILRB1_ENST00000427581.2_Missense_Mutation_p.A210G|LILRB1_ENST00000396332.4_Missense_Mutation_p.A174G|LILRB1_ENST00000396321.2_Missense_Mutation_p.A174G|LILRB1_ENST00000418536.2_Missense_Mutation_p.A174G|LILRB1_ENST00000396315.1_Missense_Mutation_p.A174G|LILRB1_ENST00000396317.1_Missense_Mutation_p.A174G|LILRB1_ENST00000324602.7_Missense_Mutation_p.A174G|LILRB1_ENST00000396327.3_Missense_Mutation_p.A174G|LILRB1_ENST00000448689.1_Missense_Mutation_p.A174G|LILRB1_ENST00000434867.2_Missense_Mutation_p.A174G	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	174	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGCCCCATGCCCGTGGGTCG	0.572										HNSCC(37;0.09)			38	92					0	0	0	0	G	55143548	C	G	55143548	3	3	192	1	0	0	0	0	1	0	0	0	8844	739	26	4	535	4	LILRB1	19	55143548	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	36815	55143548	3985435	459	33969											
SUV420H2	84787	broad.mit.edu	37	chr19	55853662	55853662	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgggacctggaggctGcgtaccgggccctgacgctg	5	5	18	13	4	0	1	0	1	0	0	0	3	0	3	3	5	3	4	3	5	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55853662G>C	ENST00000255613.3	+	3	438	c.190G>C	c.(190-192)Gcg>Ccg	p.A64P	SUV420H2_ENST00000402499.4_Intron|AC020922.1_ENST00000539076.1_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCTGGAGGCTGCGTACCGGGC	0.726													5	13					0	0	0	0	C	55853662	G	C	55853662	3	2	192	1	0	0	0	0	1	0	0	0	15505	1319	46	4	196	4	SUV420H2	19	55853662	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	710114	55853662	3275321	460	33970											
ZNF835	90485	broad.mit.edu	37	chr19	57176038	57176038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacgccaggtacgagccctGgctgaaggccttgccgcact	7	6	14	14	3	0	1	0	1	0	0	0	3	0	2	4	4	3	3	4	4	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:57176038G>T	ENST00000537055.2	-	2	760	c.529C>A	c.(529-531)Cag>Aag	p.Q177K		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TACGAGCCCTGGCTGAAGGCC	0.706													11	21					0.000978159	0.00109354	1	0	T	57176038	G	T	57176038	3	4	192	1	0	0	0	0	1	0	0	0	18279	1357	47	4	1086	4	ZNF835	19	57176038	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1322376	57176038	1952945	461	33971											
PEG3	5178	broad.mit.edu	37	chr19	57327872	57327872	+	Frame_Shift_Del	DEL	C	C	-																															ttccctctagtatggattttCtgatgttctttcagggatga																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:57327872delC	ENST00000326441.9	-	10	2301	c.1938delG	c.(1936-1938)cafs	p.Q646fs	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.Q522fs|PEG3_ENST00000593695.1_Frame_Shift_Del_p.Q520fs|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.Q646fs|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	646					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TATGGATTTTCTGATGTTCTT	0.398													31	100	---	---	---	---					-	57327872	C	-	57327872	7	5	192	1	0	1	0	1	0	0	0	0	11791	912	32	0	2832	0	PEG3	19	57327872	Frame_Shift_Del	DEL	C	TCGA-CR-7364-01A-11D-2012-08	151834	57327872	1801111	462	33972											
ZNF135	7694	broad.mit.edu	37	chr19	58578900	58578900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatctgcgaatccacactGgggagaaaccctatcagtgt	12	8	10	11	1	2	1	1	0	1	1	3	3	3	1	2	2	3	1	2	2	3	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:58578900G>A	ENST00000506786.1	+	5	1476	c.922G>A	c.(922-924)Ggg>Agg	p.G308R	ZNF135_ENST00000359978.6_Missense_Mutation_p.G362R|ZNF135_ENST00000401053.4_Missense_Mutation_p.G374R|ZNF135_ENST00000313434.5_Missense_Mutation_p.G350R|ZNF135_ENST00000511556.1_Missense_Mutation_p.G362R|ZNF135_ENST00000439855.2_Missense_Mutation_p.G350R			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	362					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AATCCACACTGGGGAGAAACC	0.572													18	32					0	0	0	0	A	58578900	G	A	58578900	3	1	192	1	0	0	0	0	1	0	0	0	17820	1348	47	4	1251	4	ZNF135	19	58578900	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1251028	58578900	550083	463	33973											
TPX2	22974	broad.mit.edu	37	chr20	30363782	30363782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aattcaagaaacttgctctgGctggaataggtgagcttggc	11	11	12	7	0	2	2	1	1	1	1	2	3	2	3	0	4	3	3	0	4	5	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:30363782G>A	ENST00000340513.4	+	8	1249	c.721G>A	c.(721-723)Gct>Act	p.A241T	TPX2_ENST00000300403.6_Missense_Mutation_p.A241T			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	241					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACTTGCTCTGGCTGGAATAGG	0.388													33	42					0	0	0	0	A	30363782	G	A	30363782	3	1	192	1	0	0	0	0	1	0	0	0	16527	1203	42	4	743	4	TPX2	20	30363782	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08		30363782	32661738	464	33974											
GHRH	2691	broad.mit.edu	37	chr20	35885221	35885221	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgcttacctgagggtcaaAgggggaggtggggagcagtg	8	8	19	6	0	2	1	1	1	1	0	2	3	2	3	1	6	3	2	1	6	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:35885221A>T	ENST00000373614.2	-	2	183	c.72T>A	c.(70-72)ccT>ccA	p.P24P	GHRH_ENST00000373611.2_Silent_p.P24P|GHRH_ENST00000237527.3_Silent_p.P24P			P01286	SLIB_HUMAN	growth hormone releasing hormone	24					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				TGAGGGTCAAAGGGGGAGGTG	0.602													10	36					0	0	0	0	T	35885221	A	T	35885221	2	4	192	1	0	0	0	0	0	0	0	1	6423	59	3	5		5	GHRH	20	35885221	Silent	SNP	A	TCGA-CR-7364-01A-11D-2012-08	5521439	35885221	27140299	465	33975											
MAFB	9935	broad.mit.edu	37	chr20	39316726	39316726	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctggacgcgtttatacctGcaagactgggcgtagccccg	7	9	13	12	4	0	1	0	0	0	1	0	2	0	2	3	2	4	4	3	2	4	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:39316726G>C	ENST00000373313.2	-	1	1154	c.765C>G	c.(763-765)tgC>tgG	p.C255W	MAFB_ENST00000396967.1_Missense_Mutation_p.C255W	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	255					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				GTTTATACCTGCAAGACTGGG	0.622			T	IGH@	MM								31	31					0	0	0	0	C	39316726	G	C	39316726	3	2	192	1	0	0	0	0	1	0	0	0	9223	1311	46	4	210	4	MAFB	20	39316726	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	3431505	39316726	23708794	466	33976											
PTPRT	11122	broad.mit.edu	37	chr20	40735527	40735527	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtcaagcatggtgtcaaTggcaatgaagcagccagtcc	12	8	11	10	0	2	1	2	1	0	0	3	1	3	1	2	2	3	3	2	2	4	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:40735527T>C	ENST00000373198.3	-	25	3590	c.3355A>G	c.(3355-3357)Att>Gtt	p.I1119V	PTPRT_ENST00000373201.1_Missense_Mutation_p.I1087V|PTPRT_ENST00000373184.1_Missense_Mutation_p.I1107V|PTPRT_ENST00000356100.2_Missense_Mutation_p.I1106V|PTPRT_ENST00000373187.1_Missense_Mutation_p.I1097V|PTPRT_ENST00000373190.1_Missense_Mutation_p.I1096V|PTPRT_ENST00000373193.3_Missense_Mutation_p.I1100V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1097	Tyrosine-protein phosphatase 1.				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)				ATGGTGTCAATGGCAATGAAG	0.582													53	34					0	0	0	0	C	40735527	T	C	40735527	3	2	192	1	0	0	0	0	1	0	0	0	12894	1464	51	5	1068	5	PTPRT	20	40735527	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	1418801	40735527	22289993	467	33977											
ADA	100	broad.mit.edu	37	chr20	43251265	43251265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtgtccggcttccaggcaCcagtgaggtagctggaccag	7	7	14	13	2	0	1	0	1	0	0	2	2	2	2	5	4	1	4	5	4	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:43251265C>A	ENST00000372874.4	-	9	943	c.809G>T	c.(808-810)gGt>gTt	p.G270V	ADA_ENST00000464097.1_5'UTR|ADA_ENST00000537820.1_Missense_Mutation_p.G246V|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372887.1_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	270					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CTTCCAGGCACCAGTGAGGTA	0.592									Adenosine Deaminase Deficiency				20	14					4.35082e-09	5.62682e-09	1	0	A	43251265	C	A	43251265	3	1	192	1	0	0	0	0	1	0	0	0	230	507	18	4	298	4	ADA	20	43251265	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	2515738	43251265	19774255	468	33978											
NEURL2	140825	broad.mit.edu	37	chr20	44519214	44519214	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggttccacgaggagggtTggaggtcggctgggggccgc	5	8	20	8	3	0	0	0	0	0	0	2	3	1	2	2	8	0	3	2	8	1	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:44519214T>C	ENST00000372518.4	-	1	712	c.417A>G	c.(415-417)ccA>ccG	p.P139P		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	139	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CGAGGAGGGTTGGAGGTCGGC	0.701													28	20					0	0	0	0	C	44519214	T	C	44519214	2	2	192	1	0	0	0	0	0	0	0	1	10416	1799	63	5		5	NEURL2	20	44519214	Silent	SNP	T	TCGA-CR-7364-01A-11D-2012-08	1267949	44519214	18506306	469	33979											
SLC12A5	57468	broad.mit.edu	37	chr20	44685832	44685832	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtccaacgtgcggcgcaTgcacacggccgtgcggctga	7	5	14	15	6	0	1	0	1	0	0	1	1	1	1	3	3	4	3	3	3	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:44685832T>A	ENST00000454036.1	+	25	3294	c.3218T>A	c.(3217-3219)aTg>aAg	p.M1073K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.M1050K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1073					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGCGGCGCATGCACACGGCC	0.637													50	39					0	0	0	0	A	44685832	T	A	44685832	3	1	192	1	0	0	0	0	1	0	0	0	14474	1464	51	5	3372	5	SLC12A5	20	44685832	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	166618	44685832	18339688	470	33980											
DOK5	55816	broad.mit.edu	37	chr20	53260098	53260098	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacggcagcacagcacgggAcagctctaccgcttgcaagg	11	4	12	14	3	1	0	0	0	1	0	1	1	1	1	1	3	5	6	1	3	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:53260098A>G	ENST00000262593.5	+	7	1187	c.837A>G	c.(835-837)ggA>ggG	p.G279G	DOK5_ENST00000395939.1_Silent_p.G171G	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	279							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ACAGCACGGGACAGCTCTACC	0.652													10	45					0	0	0	0	G	53260098	A	G	53260098	2	3	192	1	0	0	0	0	0	0	0	1	4736	262	10	5		5	DOK5	20	53260098	Silent	SNP	A	TCGA-CR-7364-01A-11D-2012-08	8574266	53260098	9765422	471	33981											
NCAM2	4685	broad.mit.edu	37	chr21	22746287	22746287	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatgactgtgaagctgcAagcagaattggagggcatca	14	8	13	6	0	1	4	1	2	0	2	1	5	1	5	0	2	3	4	0	2	4	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:22746287A>C	ENST00000400546.1	+	9	1398	c.1149A>C	c.(1147-1149)gcA>gcC	p.A383A	NCAM2_ENST00000535285.1_Silent_p.A408A|NCAM2_ENST00000284894.7_Silent_p.A241A	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	383	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTGAAGCTGCAAGCAGAATTG	0.393													12	43					0	0	0	0	C	22746287	A	C	22746287	2	2	192	1	0	0	0	0	0	0	0	1	10273	117	5	5		5	NCAM2	21	22746287	Silent	SNP	A	TCGA-CR-7364-01A-11D-2012-08		22746287	25383608	472	33982											
SON	6651	broad.mit.edu	37	chr21	34923211	34923211	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggcaacgacagcgctGgagttgccggggcagccttc	7	6	15	13	3	0	0	0	0	0	0	1	2	0	1	3	4	4	4	3	4	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:34923211G>T	ENST00000356577.4	+	3	2149	c.1674G>T	c.(1672-1674)ctG>ctT	p.L558L	SON_ENST00000381679.4_Silent_p.L558L|SON_ENST00000290239.6_Silent_p.L558L|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.L558L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	558					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CGACAGCGCTGGAGTTGCCGG	0.647													25	82					2.21704e-12	3.03409e-12	1	0	T	34923211	G	T	34923211	2	4	192	1	0	0	0	0	0	0	0	1	15014	1335	47	4		4	SON	21	34923211	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	12176924	34923211	13206684	473	33983											
DSCAM	1826	broad.mit.edu	37	chr21	41450794	41450794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagggcctgtactctaGtgtgaaggaggtgatggggc	9	8	16	8	0	1	2	0	2	1	0	1	3	1	3	2	5	1	1	2	5	4	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:41450794G>T	ENST00000400454.1	-	26	5008	c.4531C>A	c.(4531-4533)Cta>Ata	p.L1511I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1511	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGTACTCTAGTGTGAAGGAG	0.557													8	28					0.000157383	0.000180069	1	0	T	41450794	G	T	41450794	3	4	192	1	0	0	0	0	1	0	0	0	4804	1020	36	4	1539	4	DSCAM	21	41450794	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	6527583	41450794	6679101	474	33984											
FTCD	10841	broad.mit.edu	37	chr21	47557204	47557204	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaggttgatgagcacgttGaaatatgcgccaaacacgcc	12	8	10	11	3	1	3	1	3	0	0	1	3	1	3	2	1	3	3	2	1	3	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:47557204G>A	ENST00000355384.2	-	12	1487	c.1444C>T	c.(1444-1446)Caa>Taa	p.Q482*	FTCD_ENST00000397746.3_Silent_p.F496F|FTCD_ENST00000397748.1_Silent_p.F496F|FTCD_ENST00000291670.5_Silent_p.F496F|FTCD_ENST00000397743.1_Nonsense_Mutation_p.Q482*|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000359679.2_Silent_p.F496F			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	0	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TGAGCACGTTGAAATATGCGC	0.607													45	131					0	0	0	0	A	47557204	G	A	47557204	4	1	192	1	0	0	0	0	0	1	0	0	6129	1281	45	2	145	2	FTCD	21	47557204	Nonsense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	6106410	47557204	572691	475	33985											
CECR6	27439	broad.mit.edu	37	chr22	17601355	17601355	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccagtacaggtcggtgacGgcgatgaggtacaggtccag	10	6	15	10	3	0	2	0	2	0	0	2	3	1	2	2	5	2	2	2	5	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:17601355G>T	ENST00000331437.3	-	1	788	c.663C>A	c.(661-663)gcC>gcA	p.A221A	CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	221										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GGTCGGTGACGGCGATGAGGT	0.706													4	20					0.00909568	0.00994106	1	0	T	17601355	G	T	17601355	2	4	192	1	0	0	0	0	0	0	0	1	3237	1103	39	3		3	CECR6	22	17601355	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08		17601355	33703211	476	33986											
DGCR14	8220	broad.mit.edu	37	chr22	19121856	19121856	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccactggccggggtcttGaggtgggtggagcgtgctgg	4	8	20	9	2	1	1	0	1	1	0	1	2	1	2	2	7	3	1	2	7	0	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:19121856G>T	ENST00000252137.6	-	10	1327	c.1284C>A	c.(1282-1284)ctC>ctA	p.L428L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	428					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CCGGGGTCTTGAGGTGGGTGG	0.687													10	30					7.48243e-07	9.08478e-07	1	0	T	19121856	G	T	19121856	2	4	192	1	0	0	0	0	0	0	0	1	4497	1277	45	2		2	DGCR14	22	19121856	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1520501	19121856	32182710	477	33987											
ADORA2A	135	broad.mit.edu	37	chr22	24829704	24829704	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccatccgcatcccgctccGgtgagcagggccggggttac	5	7	14	15	4	0	1	0	1	0	0	3	1	3	1	5	4	3	4	5	4	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:24829704G>T	ENST00000337539.7	+	2	791	c.332_splice	c.e2+1	p.R111_splice	ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000326341.4_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	111					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	ATCCCGCTCCGGTGAGCAGGG	0.622													10	46					1.08611e-07	1.34966e-07	1	0	T	24829704	G	T	24829704	5	4	192	1	0	0	0	0	0	0	1	0	327	1130	39	3	334	3	ADORA2A	22	24829704	Splice_Site	SNP	G	TCGA-CR-7364-01A-11D-2012-08	5707848	24829704	26474862	478	33988											
MYO18B	84700	broad.mit.edu	37	chr22	26422934	26422934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaaatgcatctcttcaGacggtgttgggggcacaacc	9	9	11	12	1	3	1	2	0	1	1	4	1	3	1	2	3	2	3	2	3	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:26422934G>T	ENST00000335473.7	+	43	7244	c.6994G>T	c.(6994-6996)Gac>Tac	p.D2332Y	MYO18B_ENST00000407587.2_Missense_Mutation_p.D2333Y|MYO18B_ENST00000536101.1_Missense_Mutation_p.D2332Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2332						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CATCTCTTCAGACGGTGTTGG	0.557													18	67					1.02788e-11	1.39467e-11	1	0	T	26422934	G	T	26422934	3	4	192	1	0	0	0	0	1	0	0	0	10136	942	33	2	7160	2	MYO18B	22	26422934	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1593230	26422934	24881632	479	33989											
EWSR1	2130	broad.mit.edu	37	chr22	29684763	29684763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggcggggaggaggacGcggtggaatggggtaagagc	9	4	24	4	3	0	1	0	0	0	1	0	5	0	5	0	10	1	1	0	10	2	1	rs71329463		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:29684763G>T	ENST00000397938.2	+	8	1281	c.962G>T	c.(961-963)cGc>cTc	p.R321L	EWSR1_ENST00000406548.1_Missense_Mutation_p.R321L|EWSR1_ENST00000333395.6_Missense_Mutation_p.R321L|EWSR1_ENST00000332035.6_Missense_Mutation_p.R265L|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000331029.7_Intron|EWSR1_ENST00000414183.2_Missense_Mutation_p.R327L	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	321	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGGAGGACGCGGTGGAATG	0.512			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"								4	19					0.00909568	0.00994106	1	0	T	29684763	G	T	29684763	3	4	192	1	0	0	0	0	1	0	0	0	5333	1087	38	3	1014	3	EWSR1	22	29684763	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	3261829	29684763	21619803	480	33990											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951150	30951150	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgtcctggatggcggcGgcgtccacggcgtggccccc	2	6	16	17	6	0	0	0	0	0	0	3	1	2	1	5	6	0	0	5	6	0	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:30951150G>A	ENST00000402321.1	-	3	1379	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	GAL3ST1_ENST00000443111.2_Silent_p.A354A|GAL3ST1_ENST00000406361.1_Silent_p.A354A|GAL3ST1_ENST00000406955.1_Silent_p.A354A|GAL3ST1_ENST00000338911.5_Silent_p.A354A|GAL3ST1_ENST00000401975.1_Silent_p.A354A|GAL3ST1_ENST00000402369.1_Silent_p.A354A			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	354					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GGATGGCGGCGGCGTCCACGG	0.716													19	39					0	0	0	0	A	30951150	G	A	30951150	2	1	192	1	0	0	0	0	0	0	0	1	6246	1103	39	1		1	GAL3ST1	22	30951150	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1266387	30951150	20353416	481	33991											
SLC5A4	6527	broad.mit.edu	37	chr22	32651265	32651265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcggatgtggtcagacaatgGaggtggctctggggtctcag	7	10	17	7	1	3	1	2	0	2	1	5	3	3	3	0	7	0	1	0	7	1	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:32651265G>C	ENST00000266086.4	-	1	63	c.52C>G	c.(52-54)Cca>Gca	p.P18A	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	18					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCAGACAATGGAGGTGGCTCT	0.522											OREG0003502	type=REGULATORY REGION|Gene=SLC5A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	71	209					0	0	0	0	C	32651265	G	C	32651265	3	2	192	1	0	0	0	0	1	0	0	0	14755	1174	41	2	1987	2	SLC5A4	22	32651265	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	1700115	32651265	18653301	482	33992											
CYP2D6	1565	broad.mit.edu	37	chr22	42525169	42525169	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcgcgccacgcgggcccaTagcgcgccaggaacacccct	7	3	12	19	6	0	0	0	0	0	0	1	1	0	1	5	2	2	1	5	2	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:42525169T>C	ENST00000360608.5	-	3	485	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.Y124C|CYP2D6_ENST00000359033.4_Intron	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	124							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	p.Y124C(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGCGGGCCCATAGCGCGCCAG	0.682													19	33					0	0	0	0	C	42525169	T	C	42525169	3	2	192	1	0	0	0	0	1	0	0	0	4201	1406	49	5	1150	5	CYP2D6	22	42525169	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	9873904	42525169	8779397	483	33993											
CYB5R3	1727	broad.mit.edu	37	chr22	43015836	43015836	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtccaggttgggaaggcaGgcgtactggatcatgggtgg	7	9	19	6	1	1	0	1	0	0	0	2	2	2	2	1	8	1	3	1	8	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:43015836G>C	ENST00000361740.4	-	9	947	c.948C>G	c.(946-948)gcC>gcG	p.A316A	CYB5R3_ENST00000407332.1_Silent_p.A260A|CYB5R3_ENST00000396303.3_Silent_p.A260A|CYB5R3_ENST00000402438.1_Silent_p.A260A|CYB5R3_ENST00000352397.5_Silent_p.A283A|CYB5R3_ENST00000407623.3_Silent_p.A260A	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	283					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	TGGGAAGGCAGGCGTACTGGA	0.682													6	17					0	0	0	0	C	43015836	G	C	43015836	2	2	192	1	0	0	0	0	0	0	0	1	4160	987	35	4		4	CYB5R3	22	43015836	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	490667	43015836	8288730	484	33994											
FAM19A5	25817	broad.mit.edu	37	chr22	48972368	48972368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcctagtgatccacgcgCagttcctcaaagaaggtaat	11	10	9	11	3	1	2	1	1	0	1	5	2	4	2	3	1	0	3	3	1	4	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:48972368C>A	ENST00000358295.5	+	1	251	c.76C>A	c.(76-78)Cag>Aag	p.Q26K	FAM19A5_ENST00000473898.1_3'UTR|FAM19A5_ENST00000402357.1_Intron	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	0						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GATCCACGCGCAGTTCCTCAA	0.711													3	6					0.004672	0.00514163	1	0	A	48972368	C	A	48972368	3	1	192	1	0	0	0	0	1	0	0	0	5578	711	25	4	194	4	FAM19A5	22	48972368	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	5956532	48972368	2332198	485	33995											
CHKB	1120	broad.mit.edu	37	chr22	51018496	51018496	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acccactcacaaaaatggttCccaatgtcaaagcccctggg	13	7	7	14	0	2	0	2	0	0	0	3	0	3	0	4	2	1	1	4	2	4	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:51018496C>G	ENST00000406938.2	-	8	1051	c.834G>C	c.(832-834)ggG>ggC	p.G278G		NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	278					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	AAAAATGGTTCCCAATGTCAA	0.493													37	104					0	0	0	0	G	51018496	C	G	51018496	2	3	192	1	0	0	0	0	0	0	0	1	3377	842	30	2		2	CHKB	22	51018496	Silent	SNP	C	TCGA-CR-7364-01A-11D-2012-08	2046128	51018496	286070	486	33996											
PLCXD1	55344	broad.mit.edu	37	chrX	209702	209702	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaactctggtcctttgcagGaggtgccgacactgcggcag	7	10	13	11	2	1	0	0	0	1	0	2	2	2	1	2	4	4	2	2	4	1	2	rs146046082		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:209702G>T	ENST00000381657.2	+	6	1064	c.549_splice	c.e6-1	p.E184_splice	PLCXD1_ENST00000399012.1_Splice_Site_p.E184_splice|PLCXD1_ENST00000381663.3_Splice_Site_p.E184_splice	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	184	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCTTTGCAGGAGGTGCCGAC	0.667													8	35					5.18039e-06	6.12579e-06	1	0	T	209702	G	T	209702	5	4	192	1	0	0	0	0	0	0	1	0	12113	1188	41	2	568	2	PLCXD1	23	209702	Splice_Site	SNP	G	TCGA-CR-7364-01A-11D-2012-08		209702	155060858	487	33997											
MXRA5	25878	broad.mit.edu	37	chrX	3235326	3235327	+	Frame_Shift_Del	DEL	GC	GC	-																															acgttcagctgcaccgtcctGcgcgcggagcctaccaggtt																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:3235326_3235327delGC	ENST00000217939.6	-	6	6549_6550	c.6395_6396delGC	c.(6394-6396)cfs	p.R2133fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2133	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCACCGTCCTGCGCGCGGAGCC	0.663													6	5	---	---	---	---					-	3235327	GC	-	3235326	7	5	192	1	0	1	0	1	0	0	0	0	10073	1306	46	0	2098	0	MXRA5	23	3235326	Frame_Shift_Del	DEL	GC	TCGA-CR-7364-01A-11D-2012-08	3025624	3235326	152035234	488	33998											
PIGA	5277	broad.mit.edu	37	chrX	15344163	15344163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattataccactaagcaaatCgatccctgaaaatataaagt	18	11	4	8	1	0	1	0	1	0	0	2	2	1	1	2	0	2	1	2	0	10	6			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:15344163C>T	ENST00000333590.4	-	3	805	c.721G>A	c.(721-723)Gat>Aat	p.D241N	PIGA_ENST00000428964.1_5'UTR|PIGA_ENST00000482148.1_Intron|PIGA_ENST00000542278.1_Missense_Mutation_p.D7N	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	241					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CTAAGCAAATCGATCCCTGAA	0.303													24	32					0	0	0	0	T	15344163	C	T	15344163	3	4	192	1	0	0	0	0	1	0	0	0	11956	884	31	1	749	1	PIGA	23	15344163	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	12108837	15344163	139926397	489	33999											
YY2	404281	broad.mit.edu	37	chrX	21875522	21875522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaccagctggtccacaccgGcgagaagccctttcagtgca	10	6	10	15	2	1	1	1	0	0	1	2	2	2	1	4	2	3	2	4	2	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:21875522G>T	ENST00000429584.2	+	1	1418	c.920G>T	c.(919-921)gGc>gTc	p.G307V	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	307	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						GTCCACACCGGCGAGAAGCCC	0.547													90	84					2.62214e-60	4.26938e-60	1	0	T	21875522	G	T	21875522	3	4	192	1	0	0	0	0	1	0	0	0	17605	1203	42	4	922	4	YY2	23	21875522	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	6531359	21875522	133395038	490	34000											
FAM47A	158724	broad.mit.edu	37	chrX	34149264	34149264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cactccagtcttggaaggctCcgcgtggagactggaccccc	7	7	12	15	2	1	1	0	0	1	1	3	4	3	3	4	4	0	1	4	4	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:34149264C>T	ENST00000346193.3	-	1	1183	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	378								p.E378*(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAGGCTCCGCGTGGAGA	0.637													32	26					0	0	0	0	T	34149264	C	T	34149264	3	4	192	1	0	0	0	0	1	0	0	0	5616	864	30	2	1247	2	FAM47A	23	34149264	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	12273742	34149264	121121296	491	34001											
USP9X	8239	broad.mit.edu	37	chrX	41077827	41077827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgtccttcaccttttGcctctcctggaccttctagt	4	15	7	15	0	3	0	1	0	2	0	5	1	4	1	6	2	1	0	6	2	1	5			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:41077827G>A	ENST00000324545.7	+	37	7045	c.6412G>A	c.(6412-6414)Gcc>Acc	p.A2138T	USP9X_ENST00000378308.2_Missense_Mutation_p.A2138T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2138					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTCACCTTTTGCCTCTCCTGG	0.428													39	26					0	0	0	0	A	41077827	G	A	41077827	3	1	192	1	0	0	0	0	1	0	0	0	17186	1319	46	4	6554	4	USP9X	23	41077827	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	6928563	41077827	114192733	492	34002											
ZMYM3	9203	broad.mit.edu	37	chrX	70463741	70463741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatcgttcaccattgggccGagtgatttctctcacaaact	10	13	7	11	2	3	1	2	1	1	0	5	2	3	1	2	1	1	1	2	1	2	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:70463741G>A	ENST00000373998.1	-	21	4031	c.3334C>T	c.(3334-3336)Cgg>Tgg	p.R1112W	ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1124W|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1126W|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1124W|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1119W	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1124					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCATTGGGCCGAGTGATTTCT	0.493													28	20					0	0	0	0	A	70463741	G	A	70463741	3	1	192	1	0	0	0	0	1	0	0	0	17796	1057	37	1	762	1	ZMYM3	23	70463741	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	29385914	70463741	84806819	493	34003											
NONO	4841	broad.mit.edu	37	chrX	70514351	70514351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggaaagctctggacagatGcagtgaaggctccttcctgc	9	9	12	11	1	1	2	0	1	1	1	4	4	3	4	2	3	3	3	2	3	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:70514351G>A	ENST00000535149.1	+	3	999	c.356G>A	c.(355-357)tGc>tAc	p.C119Y	NONO_ENST00000373841.1_Missense_Mutation_p.C208Y|NONO_ENST00000373856.3_Missense_Mutation_p.C208Y|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Missense_Mutation_p.C208Y	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	208	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CTGGACAGATGCAGTGAAGGC	0.502			T	TFE3	papillary renal cancer								6	6					0	0	0	0	A	70514351	G	A	70514351	3	1	192	1	0	0	0	0	1	0	0	0	10604	1319	46	4	633	4	NONO	23	70514351	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	50610	70514351	84756209	494	34004											
DACH2	117154	broad.mit.edu	37	chrX	85950137	85950137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagccaggcattgggggtGctccaaccctcaatccactg	8	7	11	15	0	1	0	1	0	0	0	3	0	3	0	5	3	3	2	5	3	2	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:85950137G>T	ENST00000373131.1	+	4	1010	c.847G>T	c.(847-849)Gct>Tct	p.A283S	DACH2_ENST00000373125.4_Missense_Mutation_p.A296S|DACH2_ENST00000508860.1_Missense_Mutation_p.A129S|DACH2_ENST00000510272.1_Missense_Mutation_p.A77S	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CATTGGGGGTGCTCCAACCCT	0.498													8	4					5.18039e-06	6.12579e-06	1	0	T	85950137	G	T	85950137	3	4	192	1	0	0	0	0	1	0	0	0	4254	1319	46	4	904	4	DACH2	23	85950137	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	15435786	85950137	69320423	495	34005											
KLHL4	56062	broad.mit.edu	37	chrX	86773057	86773057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcagggcaggttgaagaGccactctcgggacagaaacg	11	6	15	9	2	2	3	1	1	1	2	3	4	2	4	1	4	2	3	1	4	2	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:86773057G>T	ENST00000373119.4	+	1	306	c.161G>T	c.(160-162)aGc>aTc	p.S54I	KLHL4_ENST00000373114.4_Missense_Mutation_p.S54I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	54						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGGTTGAAGAGCCACTCTCGG	0.542													23	13					5.45024e-15	7.72523e-15	1	0	T	86773057	G	T	86773057	3	4	192	1	0	0	0	0	1	0	0	0	8443	971	34	4	163	4	KLHL4	23	86773057	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	822920	86773057	68497503	496	34006											
GPRASP1	9737	broad.mit.edu	37	chrX	101911283	101911283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaggtattgttgggtcctgGtttggggccagagaagagac	9	10	17	5	0	0	2	0	0	0	2	1	5	1	2	2	5	0	3	2	5	3	4			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:101911283G>C	ENST00000537097.1	+	6	3255	c.2442G>C	c.(2440-2442)tgG>tgC	p.W814C	GPRASP1_ENST00000361600.5_Missense_Mutation_p.W814C|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.W814C|GPRASP1_ENST00000415986.1_Missense_Mutation_p.W814C	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	814	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGGGTCCTGGTTTGGGGCCA	0.502													56	51					0	0	0	0	C	101911283	G	C	101911283	3	2	192	1	0	0	0	0	1	0	0	0	6772	1270	44	4	2444	4	GPRASP1	23	101911283	Missense_Mutation	SNP	G	TCGA-CR-7364-01A-11D-2012-08	15138226	101911283	53359277	497	34007											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104440323	104440323	+	Frame_Shift_Del	DEL	G	G	-																															tacaaaaacaaaggtgatttGgaagagcccatcatcttttc																										TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:104440323delG	ENST00000372582.1	+	3	1005	c.249delG	c.(247-249)ttfs	p.L83fs	IL1RAPL2_ENST00000344799.4_Frame_Shift_Del_p.L83fs	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	83	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGGTGATTTGGAAGAGCCCA	0.448													28	23	---	---	---	---					-	104440323	G	-	104440323	7	5	192	1	0	1	0	1	0	0	0	0	7715	1339	47	0	255	0	IL1RAPL2	23	104440323	Frame_Shift_Del	DEL	G	TCGA-CR-7364-01A-11D-2012-08	2529040	104440323	50830237	498	34008											
DCX	1641	broad.mit.edu	37	chrX	110644424	110644424	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctccctggcctgtgcacTgttgctgctagccaaggact	5	12	11	13	0	1	0	0	0	1	0	2	1	1	1	3	2	4	5	3	2	2	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:110644424T>C	ENST00000338081.3	-	3	913	c.742A>G	c.(742-744)Agt>Ggt	p.S248G	DCX_ENST00000371993.2_Missense_Mutation_p.S167G|DCX_ENST00000356915.2_Missense_Mutation_p.S167G|DCX_ENST00000356220.3_Missense_Mutation_p.S167G|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.S167G	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	248					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.S167C(1)|p.S248C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GCCTGTGCACTGTTGCTGCTA	0.522													37	26					0	0	0	0	C	110644424	T	C	110644424	3	2	192	1	0	0	0	0	1	0	0	0	4350	1580	55	5	618	5	DCX	23	110644424	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	6204101	110644424	44626136	499	34009											
THOC2	57187	broad.mit.edu	37	chrX	122802034	122802034	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctactttctcctcttctttTtccttttctttctctcgctc	1	24	1	15	1	6	0	0	0	6	0	11	0	7	0	2	0	1	1	2	0	1	8			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:122802034T>A	ENST00000245838.8	-	10	1024	c.993A>T	c.(991-993)gaA>gaT	p.E331D	THOC2_ENST00000491737.1_Missense_Mutation_p.E216D|THOC2_ENST00000355725.4_Missense_Mutation_p.E331D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	331					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						cctcttctttttccttttctt	0.313													41	29					0	0	0	0	A	122802034	T	A	122802034	3	1	192	1	0	0	0	0	1	0	0	0	15959	1838	64	5	3904	5	THOC2	23	122802034	Missense_Mutation	SNP	T	TCGA-CR-7364-01A-11D-2012-08	12157610	122802034	32468526	500	34010											
BCORL1	63035	broad.mit.edu	37	chrX	129149413	129149413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acggacttcctgaggggcaaCcacggcctgggggctccttc	6	7	14	14	2	0	1	0	1	0	0	3	2	2	2	4	6	1	2	4	6	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:129149413C>T	ENST00000540052.1	+	3	2709	c.2665C>T	c.(2665-2667)Cca>Tca	p.P889S	BCORL1_ENST00000359304.2_Missense_Mutation_p.P889S|BCORL1_ENST00000218147.7_Missense_Mutation_p.P889S|BCORL1_ENST00000303743.5_Missense_Mutation_p.P889S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	889					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGAGGGGCAACCACGGCCTGG	0.572													19	25					0	0	0	0	T	129149413	C	T	129149413	3	4	192	1	0	0	0	0	1	0	0	0	1391	507	18	4	2675	4	BCORL1	23	129149413	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	6347379	129149413	26121147	501	34011											
GPR101	83550	broad.mit.edu	37	chrX	136113046	136113046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccttcatgctggcggCgaaactcactctcatcctgg	7	10	8	16	2	4	0	4	0	1	0	6	1	5	0	3	3	2	1	3	3	1	1			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:136113046C>T	ENST00000298110.1	-	1	787	c.788G>A	c.(787-789)cGc>cAc	p.R263H		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	263						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ATGCTGGCGGCGAAACTCACT	0.557													58	55					0	0	0	0	T	136113046	C	T	136113046	3	4	192	1	0	0	0	0	1	0	0	0	6671	768	27	1	741	1	GPR101	23	136113046	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	6963633	136113046	19157514	502	34012											
SLITRK4	139065	broad.mit.edu	37	chrX	142717001	142717001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgttgcgtcgcaggaCaaaaacaagaaggcaaaaag	16	8	10	7	2	1	1	0	0	1	1	2	2	1	2	0	2	2	3	0	2	6	3			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:142717001C>A	ENST00000381779.4	-	2	2149	c.1924G>T	c.(1924-1926)Gtc>Ttc	p.V642F	SLITRK4_ENST00000356928.1_Missense_Mutation_p.V642F|SLITRK4_ENST00000338017.4_Missense_Mutation_p.V642F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	642						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)					CGTCGCAGGACAAAAACAAGA	0.478													53	28					9.57592e-29	1.50141e-28	1	0	A	142717001	C	A	142717001	3	1	192	1	0	0	0	0	1	0	0	0	14833	478	17	4	593	4	SLITRK4	23	142717001	Missense_Mutation	SNP	C	TCGA-CR-7364-01A-11D-2012-08	6603955	142717001	12553559	503	34013											
MAGEA10	4109	broad.mit.edu	37	chrX	151304000	151304000	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcatcctcctccacagccagGggagcctgtgcaccctcgag	7	6	11	17	1	0	0	0	0	0	0	4	2	3	1	6	2	3	2	6	2	0	0			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:151304000G>A	ENST00000370323.4	-	4	409	c.93C>T	c.(91-93)ccC>ccT	p.P31P	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.P31P	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	31										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGCCAGGGGAGCCTGTG	0.562													34	20					0	0	0	0	A	151304000	G	A	151304000	2	1	192	1	0	0	0	0	0	0	0	1	9229	1219	43	4		4	MAGEA10	23	151304000	Silent	SNP	G	TCGA-CR-7364-01A-11D-2012-08	8586999	151304000	3966560	504	34014											
IL9R	3581	broad.mit.edu	37	chrX	155235022	155235022	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaccctggctttatccAtgaggccaggctgcgtgtcc	5	10	13	13	1	0	1	0	1	0	0	2	2	2	2	4	4	1	3	4	4	1	2			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:155235022A>T	ENST00000424344.3	+	7	963	c.596A>T	c.(595-597)cAt>cTt	p.H199L	IL9R_ENST00000369423.2_Missense_Mutation_p.H255L|IL9R_ENST00000540897.1_Missense_Mutation_p.H245L|IL9R_ENST00000244174.5_Missense_Mutation_p.H220L			Q01113	IL9R_HUMAN	interleukin 9 receptor	220	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCTTTATCCATGAGGCCAGG	0.582													52	55					0	0	0	0	T	155235022	A	T	155235022	3	4	192	1	0	0	0	0	1	0	0	0	7761	217	8	5	681	5	IL9R	23	155235022	Missense_Mutation	SNP	A	TCGA-CR-7364-01A-11D-2012-08	3931022	155235022	35538	505	34015											
SDF4	51150	broad.mit.edu	37	chr1	1163936	1163936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtccttgcctaggaagacctCctggtggaagccgcgattga	8	9	13	11	2	0	2	0	1	0	1	2	5	2	4	5	3	2	0	5	3	3	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:1163936C>G	ENST00000263741.7	-	2	530	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	SDF4_ENST00000360001.6_Missense_Mutation_p.E80Q|SDF4_ENST00000545427.1_Missense_Mutation_p.E80Q|SDF4_ENST00000459994.2_5'UTR	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	80					cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		AGGAAGACCTCCTGGTGGAAG	0.617													17	31					0	0	0	0	G	1163936	C	G	1163936	3	3	193	1	0	0	0	0	1	0	0	0	14049	864	30	2	990	2	SDF4	1	1163936	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08		1163936	248086685	1	34016											
SDF4	51150	broad.mit.edu	37	chr1	1164020	1164020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcaggatctcattctcctCcctgttggctactctctctc	4	14	8	15	0	4	0	1	0	4	0	9	1	5	1	2	3	1	3	2	3	1	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:1164020C>T	ENST00000263741.7	-	2	446	c.154G>A	c.(154-156)Gag>Aag	p.E52K	SDF4_ENST00000360001.6_Missense_Mutation_p.E52K|SDF4_ENST00000545427.1_Missense_Mutation_p.E52K|SDF4_ENST00000459994.2_5'UTR	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	52					cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TCATTCTCCTCCCTGTTGGCT	0.627													29	44					0	0	0	0	T	1164020	C	T	1164020	3	4	193	1	0	0	0	0	1	0	0	0	14049	864	30	2	1074	2	SDF4	1	1164020	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	84	1164020	248086601	2	34017											
C1orf127	148345	broad.mit.edu	37	chr1	11007909	11007909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtgggagcccacaggctCagggtttgcgtggatggagg	6	8	18	9	1	1	0	1	0	0	0	1	3	1	3	2	6	2	2	2	6	0	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:11007909C>T	ENST00000377004.4	-	12	2282	c.2283G>A	c.(2281-2283)ctG>ctA	p.L761L	C1orf127_ENST00000377008.4_Silent_p.L594L	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	612										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCCACAGGCTCAGGGTTTGCG	0.662													5	29					0	0	0	0	T	11007909	C	T	11007909	2	4	193	1	0	0	0	0	0	0	0	1	2013	813	29	2		2	C1orf127	1	11007909	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	9843889	11007909	238242712	3	34018											
PLOD1	5351	broad.mit.edu	37	chr1	12024727	12024727	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggaatgtgccctatatttCaaacatctacttgatcaagg	12	13	7	9	0	3	1	2	1	1	0	3	2	3	2	1	2	3	0	1	2	6	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:12024727C>G	ENST00000196061.4	+	13	1382	c.1355C>G	c.(1354-1356)tCa>tGa	p.S452*	PLOD1_ENST00000376369.3_Nonsense_Mutation_p.S499*	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	452					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCCTATATTTCAAACATCTAC	0.587													52	68					0	0	0	0	G	12024727	C	G	12024727	4	3	193	1	0	0	0	0	0	1	0	0	12173	838	29	2	1405	2	PLOD1	1	12024727	Nonsense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	1016818	12024727	237225894	4	34019											
WDTC1	23038	broad.mit.edu	37	chr1	27632792	27632792	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaacatgggctaccggaTcacgggcctgagcagtgggg	8	6	16	11	2	2	1	2	1	0	0	2	2	2	2	2	5	3	3	2	5	2	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:27632792T>A	ENST00000319394.3	+	16	2487	c.1952T>A	c.(1951-1953)aTc>aAc	p.I651N	WDTC1_ENST00000361771.3_Missense_Mutation_p.I650N	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	651							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGCTACCGGATCACGGGCCTG	0.647													21	38					0	0	0	0	A	27632792	T	A	27632792	3	1	193	1	0	0	0	0	1	0	0	0	17438	1435	50	5	2007	5	WDTC1	1	27632792	Missense_Mutation	SNP	T	TCGA-CR-7365-01A-11D-2012-08	15608065	27632792	221617829	5	34020											
NT5C1A	84618	broad.mit.edu	37	chr1	40129051	40129051	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggttggtgtgataggccttGaggtagcagatcgggctgtt	7	12	17	5	1	0	3	0	2	0	1	1	3	0	3	1	5	1	5	1	5	2	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:40129051G>C	ENST00000235628.1	-	4	488	c.489C>G	c.(487-489)ctC>ctG	p.L163L		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	163					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GATAGGCCTTGAGGTAGCAGA	0.532													23	29					0	0	0	0	C	40129051	G	C	40129051	2	2	193	1	0	0	0	0	0	0	0	1	10756	1277	45	2		2	NT5C1A	1	40129051	Silent	SNP	G	TCGA-CR-7365-01A-11D-2012-08	12496259	40129051	209121570	6	34021											
CYP4A11	1579	broad.mit.edu	37	chr1	47395807	47395807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaagctggtccttgtcttCacaagggttagggagcctcc	8	11	11	11	0	3	0	2	0	1	0	5	1	5	1	3	3	2	2	3	3	3	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:47395807C>T	ENST00000310638.4	-	12	1571	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	CYP4A11_ENST00000371904.4_Missense_Mutation_p.E515K|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	514			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TCCTTGTCTTCACAAGGGTTA	0.562													11	43					0	0	0	0	T	47395807	C	T	47395807	3	4	193	1	0	0	0	0	1	0	0	0	4215	835	29	2	23	2	CYP4A11	1	47395807	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	7266756	47395807	201854814	7	34022											
FOXE3	2301	broad.mit.edu	37	chr1	47882283	47882283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgctggccgccatctaccGcttcatcaccgaacgctttg	7	9	8	17	5	3	0	2	0	1	0	3	1	3	0	4	1	2	3	4	1	2	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:47882283G>A	ENST00000335071.2	+	1	540	c.296G>A	c.(295-297)cGc>cAc	p.R99H		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	99					cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		GCCATCTACCGCTTCATCACC	0.662													6	45					0	0	0	0	A	47882283	G	A	47882283	3	1	193	1	0	0	0	0	1	0	0	0	6051	1087	38	1	298	1	FOXE3	1	47882283	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	486476	47882283	201368338	8	34023											
USP24	23358	broad.mit.edu	37	chr1	55598230	55598230	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcttacttctaagttgtaGagcactctgaaggtagacat	11	15	8	7	0	3	3	0	1	3	2	3	3	3	3	0	1	2	4	0	1	5	7			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:55598230G>C	ENST00000294383.6	-	31	3524	c.3525C>G	c.(3523-3525)ctC>ctG	p.L1175L	USP24_ENST00000407756.1_Silent_p.L1015L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1175					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTAAGTTGTAGAGCACTCTGA	0.383													29	41					0	0	0	0	C	55598230	G	C	55598230	2	2	193	1	0	0	0	0	0	0	0	1	17151	929	33	2		2	USP24	1	55598230	Silent	SNP	G	TCGA-CR-7365-01A-11D-2012-08	7715947	55598230	193652391	9	34024											
C1orf168	199920	broad.mit.edu	37	chr1	57216842	57216842	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtggacgttggtcatcTgaattttttcaggtgtccct	5	17	11	8	1	3	1	2	1	1	0	4	2	4	2	1	3	0	1	1	3	1	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:57216842T>C	ENST00000343433.6	-	9	1342	c.1262A>G	c.(1261-1263)cAg>cGg	p.Q421R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	421								p.Q421L(1)		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						GTTGGTCATCTGAATTTTTTC	0.458													3	48					0	0	0	0	C	57216842	T	C	57216842	3	2	193	1	0	0	0	0	1	0	0	0	2031	1580	55	5	972	5	C1orf168	1	57216842	Missense_Mutation	SNP	T	TCGA-CR-7365-01A-11D-2012-08	1618612	57216842	192033779	10	34025											
LRRC7	57554	broad.mit.edu	37	chr1	70504339	70504340	+	Frame_Shift_Ins	INS	-	-	A																															atcccaacaggagtcttagtINSaatgtcttttctcaaatcca																										TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:70504339_70504340insA	ENST00000310961.5	+	22	3151_3152	c.2733_2734insA	c.(2731-2736)agatgtfs	p.C912fs	LRRC7_ENST00000035383.5_Frame_Shift_Ins_p.C907fs|LRRC7_ENST00000415775.2_Frame_Shift_Ins_p.C191fs			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	907						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGAGTCTTAGTAATGTCTTTTC	0.401													10	64	---	---	---	---					A	70504340	-	A	70504339	7	5	193	1	0	1	1	0	0	0	0	0	9084	1635	57	0	2792	0	LRRC7	1	70504339	Frame_Shift_Ins	INS	-	TCGA-CR-7365-01A-11D-2012-08	13287497	70504339	178746282	11	34026											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507588	74507588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaactggtatccaatttttCatccacaatttcatcttcag	13	15	3	10	0	4	0	3	0	1	0	6	0	6	0	2	1	1	1	2	1	5	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:74507588C>T	ENST00000354431.4	-	7	1218	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E343K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	343										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TCCAATTTTTCATCCACAATT	0.308													5	40					0	0	0	0	T	74507588	C	T	74507588	3	4	193	1	0	0	0	0	1	0	0	0	9094	835	29	2	855	2	LRRIQ3	1	74507588	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	4003249	74507588	174743033	12	34027											
SYCP1	6847	broad.mit.edu	37	chr1	115398091	115398091	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accgtaacagagaaaatggaAaagcaaaagccctttgcatt	18	7	8	8	1	0	1	0	0	0	1	0	3	0	2	2	1	4	3	2	1	7	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:115398091A>C	ENST00000369522.3	+	2	246	c.6A>C	c.(4-6)gaA>gaC	p.E2D	SYCP1_ENST00000369518.1_Missense_Mutation_p.E2D	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	2					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		AGAAAATGGAAAAGCAAAAGC	0.483													16	44					0	0	0	0	C	115398091	A	C	115398091	3	2	193	1	0	0	0	0	1	0	0	0	15522	11	1	5	8	5	SYCP1	1	115398091	Missense_Mutation	SNP	A	TCGA-CR-7365-01A-11D-2012-08	40890503	115398091	133852530	13	34028											
HIST2H3D	653604	broad.mit.edu	37	chr1	149784921	149784921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgcacaggttcgtgtcttCgaacagccccaccaggtagg	8	7	13	13	3	1	0	0	0	1	0	3	1	1	0	3	4	2	3	3	4	2	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:149784921C>T	ENST00000331491.1	-	1	315	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	106					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						TTCGTGTCTTCGAACAGCCCC	0.652													11	51					0	0	0	0	T	149784921	C	T	149784921	3	4	193	1	0	0	0	0	1	0	0	0	7231	893	31	1	96	1	HIST2H3D	1	149784921	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	34386830	149784921	99465700	14	34029											
TUFT1	7286	broad.mit.edu	37	chr1	151542192	151542206	+	In_Frame_Del	DEL	GGCCAAGCTTCAGGA	GGCCAAGCTTCAGGA	-																															aagacggtgcaggacttgctGgccaagcttcaggaggccaa																								rs149655288		TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:151542192_151542206delGGCCAAGCTTCAGGA	ENST00000368849.3	+	7	602_616	c.540_554delGGCCAAGCTTCAGGA	c.(538-555)ctg>ct	p.LAKLQE180del	TUFT1_ENST00000392712.3_In_Frame_Del_p.LAKLQE125del|TUFT1_ENST00000368848.2_In_Frame_Del_p.LAKLQE155del|TUFT1_ENST00000353024.3_In_Frame_Del_p.LAKLQE121del|TUFT1_ENST00000538902.1_In_Frame_Del_p.LAKLQE199del	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	180					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGACTTGCTGGCCAAGCTTCAGGAGGCCAAGCGG	0.54													39	203	---	---	---	---					-	151542206	GGCCAAGCTTCAGGA	-	151542192	7	5	193	1	0	1	0	1	0	0	0	0	16868	1335	47	0	566	0	TUFT1	1	151542192	In_Frame_Del	DEL	GGCCAAGCTTCAGGA	TCGA-CR-7365-01A-11D-2012-08	1757271	151542192	97708429	15	34030											
MUC1	4582	broad.mit.edu	37	chr1	155161971	155161971	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtacgctgctggtcatactCacagcattcttctcagtaga	10	12	8	11	1	4	1	3	0	2	1	5	1	4	1	0	1	4	5	0	1	3	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:155161971C>G	ENST00000368395.1	-	2	233	c.162G>C	c.(160-162)gtG>gtC	p.V54V	MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000462215.1_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	836						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTCATACTCACAGCATTCT	0.577			T	IGH@	B-NHL								21	115					0	0	0	0	G	155161971	C	G	155161971	2	3	193	1	0	0	0	0	0	0	0	1	10040	841	29	2		2	MUC1	1	155161971	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	3619779	155161971	94088650	16	34031											
SELE	6401	broad.mit.edu	37	chr1	169694892	169694892	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcttttgaacttaaaggAtgtaagaaggcttttggtag	12	15	11	3	0	1	2	0	1	1	1	1	4	1	3	0	3	1	3	0	3	6	8			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:169694892A>C	ENST00000333360.7	-	13	1965	c.1826T>G	c.(1825-1827)aTc>aGc	p.I609S	SELE_ENST00000367774.1_Missense_Mutation_p.I483S|SELE_ENST00000367781.4_Missense_Mutation_p.I546S|SELE_ENST00000367775.1_Missense_Mutation_p.I484S|SELE_ENST00000367777.1_Missense_Mutation_p.I546S|SELE_ENST00000367779.4_Missense_Mutation_p.I483S|SELE_ENST00000367776.1_Missense_Mutation_p.I546S|SELE_ENST00000367782.4_Missense_Mutation_p.I546S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.I484S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	609					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AACTTAAAGGATGTAAGAAGG	0.408													13	26					0	0	0	0	C	169694892	A	C	169694892	3	2	193	1	0	0	0	0	1	0	0	0	14100	333	12	5	10	5	SELE	1	169694892	Missense_Mutation	SNP	A	TCGA-CR-7365-01A-11D-2012-08	14532921	169694892	79555729	17	34032											
PRDX6	9588	broad.mit.edu	37	chr1	173456943	173456943	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacttttcccgaaaggaGtcttcaccaaagagctccca	15	8	6	12	1	2	1	1	0	1	1	4	3	4	2	3	1	2	1	3	1	4	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:173456943G>T	ENST00000340385.5	+	5	748	c.616G>T	c.(616-618)Gtc>Ttc	p.V206F	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	206					cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						CCCGAAAGGAGTCTTCACCAA	0.478													38	42					1.07121e-22	1.22859e-22	1	0	T	173456943	G	T	173456943	3	4	193	1	0	0	0	0	1	0	0	0	12549	1029	36	4	634	4	PRDX6	1	173456943	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	3762051	173456943	75793678	18	34033											
TDRD5	163589	broad.mit.edu	37	chr1	179659915	179659915	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagacaagcgtcaagaatCtgtagaccagctgtctttga	14	9	9	9	1	3	4	1	1	2	3	3	4	3	4	1	0	2	2	1	0	5	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:179659915C>G	ENST00000444136.1	+	18	3195	c.2945C>G	c.(2944-2946)tCt>tGt	p.S982C	TDRD5_ENST00000294848.8_Missense_Mutation_p.S928C|TDRD5_ENST00000367614.1_Missense_Mutation_p.S928C	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	928					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CGTCAAGAATCTGTAGACCAG	0.438													13	47					0	0	0	0	G	179659915	C	G	179659915	3	3	193	1	0	0	0	0	1	0	0	0	15827	913	32	2	2845	2	TDRD5	1	179659915	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	6202972	179659915	69590706	19	34034											
RGL1	23179	broad.mit.edu	37	chr1	183816705	183816705	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatttattatacaggttgaAggggaccagctgcctccagg	11	11	11	8	0	0	1	0	1	0	0	1	2	1	2	3	4	3	2	3	4	5	6			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:183816705A>G	ENST00000304685.3	+	4	710	c.249A>G	c.(247-249)gaA>gaG	p.E83E	RGL1_ENST00000539189.1_Silent_p.E48E|RGL1_ENST00000367531.1_Silent_p.E83E|RGL1_ENST00000536277.1_Silent_p.E46E|RGL1_ENST00000360851.3_Silent_p.E48E	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	48	N-terminal Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TACAGGTTGAAGGGGACCAGC	0.418													3	172					0	0	0	0	G	183816705	A	G	183816705	2	3	193	1	0	0	0	0	0	0	0	1	13358	69	3	5		5	RGL1	1	183816705	Silent	SNP	A	TCGA-CR-7365-01A-11D-2012-08	4156790	183816705	65433916	20	34035											
PPFIA4	8497	broad.mit.edu	37	chr1	203025593	203025593	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacccaggacgctgcggctaGagaagcttggccacccagcc	9	4	12	16	2	0	1	0	0	0	1	0	3	0	2	4	3	3	3	4	3	2	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:203025593G>C	ENST00000367240.2	+	17	2661	c.2134G>C	c.(2134-2136)Gag>Cag	p.E712Q	PPFIA4_ENST00000295706.4_Missense_Mutation_p.E227Q|PPFIA4_ENST00000447715.2_Missense_Mutation_p.E711Q|PPFIA4_ENST00000272198.6_Missense_Mutation_p.E227Q|PPFIA4_ENST00000599966.1_Missense_Mutation_p.E227Q|PPFIA4_ENST00000414050.2_Missense_Mutation_p.E440Q			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	227					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GCTGCGGCTAGAGAAGCTTGG	0.567													8	30					0	0	0	0	C	203025593	G	C	203025593	3	2	193	1	0	0	0	0	1	0	0	0	12383	943	33	2	697	2	PPFIA4	1	203025593	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	19208888	203025593	46225028	21	34036											
NSL1	25936	broad.mit.edu	37	chr1	212965008	212965008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcacccgaaagtcttctCggggagtggcggagaccaag	10	5	15	11	4	2	1	0	0	2	1	3	4	2	2	2	4	1	1	2	4	2	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:212965008C>A	ENST00000366977.3	-	1	116	c.98G>T	c.(97-99)cGa>cTa	p.R33L	NSL1_ENST00000422588.2_Missense_Mutation_p.R33L|NSL1_ENST00000366976.1_Missense_Mutation_p.R33L|NSL1_ENST00000366975.6_Missense_Mutation_p.R33L	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	33					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		AAAGTCTTCTCGGGGAGTGGC	0.632													31	58					1.39806e-14	1.56634e-14	1	0	A	212965008	C	A	212965008	3	1	193	1	0	0	0	0	1	0	0	0	10744	884	31	3	860	3	NSL1	1	212965008	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	9939415	212965008	36285613	22	34037											
PTPN14	5784	broad.mit.edu	37	chr1	214549657	214549657	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggacaacttcacggattcGgctgcgctcggcgttttctg	5	11	14	11	5	2	0	1	0	1	0	4	2	2	2	0	5	2	3	0	5	1	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:214549657G>A	ENST00000366956.5	-	15	3006	c.2812C>T	c.(2812-2814)Cga>Tga	p.R938*	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	938	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCACGGATTCGGCTGCGCTCG	0.458													31	55					0	0	0	0	A	214549657	G	A	214549657	4	1	193	1	0	0	0	0	0	1	0	0	12863	1124	39	1	771	1	PTPN14	1	214549657	Nonsense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	1584649	214549657	34700964	23	34038											
LIN9	286826	broad.mit.edu	37	chr1	226465500	226465500	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactttcgttccaataaccaGaggcaaaggaatttcatctg	14	11	7	9	1	2	1	1	0	1	1	4	2	3	2	2	2	2	2	2	2	5	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:226465500G>A	ENST00000328205.5	-	7	1251	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	LIN9_ENST00000366801.1_Silent_p.L185L|LIN9_ENST00000481685.1_Silent_p.L201L	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	220	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CCAATAACCAGAGGCAAAGGA	0.333													12	48					0	0	0	0	A	226465500	G	A	226465500	2	1	193	1	0	0	0	0	0	0	0	1	8868	933	33	2		2	LIN9	1	226465500	Silent	SNP	G	TCGA-CR-7365-01A-11D-2012-08	11915843	226465500	22785121	24	34039											
OR2M5	127059	broad.mit.edu	37	chr1	248309245	248309245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatacggcccacatctgatCgctcccctatgcaggacaag	11	7	8	15	2	1	1	0	1	1	0	3	2	2	2	3	2	2	2	3	2	3	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:248309245C>T	ENST00000366476.1	+	1	796	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CACATCTGATCGCTCCCCTAT	0.522													65	94					0	0	0	0	T	248309245	C	T	248309245	3	4	193	1	0	0	0	0	1	0	0	0	11084	884	31	1	798	1	OR2M5	1	248309245	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	21843745	248309245	941376	25	34040											
OR2T6	254879	broad.mit.edu	37	chr1	248551737	248551737	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagataaggtcttctctgcCttttataccatcctcacacc	11	13	4	13	0	3	1	1	0	2	1	5	1	4	1	4	1	2	0	4	1	4	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:248551737C>A	ENST00000355728.2	+	1	828	c.828C>A	c.(826-828)gcC>gcA	p.A276A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCTCTGCCTTTTATACCA	0.463													16	69					4.7546e-09	5.11384e-09	1	0	A	248551737	C	A	248551737	2	1	193	1	0	0	0	0	0	0	0	1	11100	668	24	4		4	OR2T6	1	248551737	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	242492	248551737	698884	26	34041											
PRKD3	23683	broad.mit.edu	37	chr2	37501611	37501611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaacacttgcttgaggaGtaacaggcatgagggcttgg	11	9	14	7	0	0	2	0	2	0	0	0	3	0	3	0	4	4	5	0	4	2	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:37501611G>A	ENST00000379066.1	-	11	2366	c.1604C>T	c.(1603-1605)aCt>aTt	p.T535I	PRKD3_ENST00000234179.2_Missense_Mutation_p.T535I			O94806	KPCD3_HUMAN	protein kinase D3	535					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGCTTGAGGAGTAACAGGCAT	0.453													18	45					0	0	0	0	A	37501611	G	A	37501611	3	1	193	1	0	0	0	0	1	0	0	0	12600	1029	36	4	1104	4	PRKD3	2	37501611	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08		37501611	205697762	27	34042											
PLEK	5341	broad.mit.edu	37	chr2	68620335	68620335	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagtgaggaagttcatcttGagagaagaccctgcctacct	13	9	10	9	0	2	4	1	2	1	2	2	6	2	5	3	1	2	1	3	1	4	3	rs146499837		TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:68620335G>C	ENST00000234313.7	+	7	983	c.804G>C	c.(802-804)ttG>ttC	p.L268F		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	268	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGTTCATCTTGAGAGAAGACC	0.423													45	130					0	0	0	0	C	68620335	G	C	68620335	3	2	193	1	0	0	0	0	1	0	0	0	12125	1281	45	2	830	2	PLEK	2	68620335	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	31118724	68620335	174579038	28	34043											
BMP10	27302	broad.mit.edu	37	chr2	69093522	69093522	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctcattatcccctttgctCtccagcacttcaaaaatggt	9	13	4	15	0	3	0	2	0	1	0	5	0	4	0	4	1	2	2	4	1	3	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:69093522C>T	ENST00000295379.1	-	2	674	c.516G>A	c.(514-516)gaG>gaA	p.E172E		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	172					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|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	cell surface|extracellular space|Z disc	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						CCCCTTTGCTCTCCAGCACTT	0.448													25	61					0	0	0	0	T	69093522	C	T	69093522	2	4	193	1	0	0	0	0	0	0	0	1	1462	912	32	2		2	BMP10	2	69093522	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	473187	69093522	174105851	29	34044											
NAT8	9027	broad.mit.edu	37	chr2	73868736	73868736	+	Missense_Mutation	SNP	C	C	G																															ggtcgctctcctggtatttgCggatgtgacaaggagccatg																										TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:73868736C>G	ENST00000272425.3	-	2	169	c.20G>C	c.(19-21)cGc>cCc	p.R7P		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	7					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						CTGGTATTTGCGGATGTGACA	0.592													33	84					0	0	0	0	G	73868736	C	G	73868736	3	3	193	1	0	0	0	0	1	0	0	0	10249	768	27	3	667	3	NAT8	2	73868736	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	4775214	73868736	169330637	30	34045	256	2									
NAT8	9027	broad.mit.edu	37	chr2	73868737	73868737	+	Missense_Mutation	SNP	G	G	A																															gtcgctctcctggtatttgcGgatgtgacaaggagccatgg																										TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:73868737G>A	ENST00000272425.3	-	2	168	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	7					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TGGTATTTGCGGATGTGACAA	0.592													32	83					0	0	0	0	A	73868737	G	A	73868737	3	1	193	1	0	0	0	0	1	0	0	0	10249	1116	39	1	668	1	NAT8	2	73868737	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	1	73868737	169330636	31	34046	256	2									
IL1B	3553	broad.mit.edu	37	chr2	113591119	113591119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgtagctggatgccgccatCcagagggcagaggtccaggt	8	7	15	11	2	0	2	0	0	0	2	3	3	2	3	4	4	2	3	4	4	1	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:113591119C>A	ENST00000263341.2	-	4	343	c.133G>T	c.(133-135)Gat>Tat	p.D45Y	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	45					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	ATGCCGCCATCCAGAGGGCAG	0.602													29	55					9.39395e-14	1.03805e-13	1	0	A	113591119	C	A	113591119	3	1	193	1	0	0	0	0	1	0	0	0	7704	855	30	2	692	2	IL1B	2	113591119	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	39722382	113591119	129608254	32	34047											
LCT	3938	broad.mit.edu	37	chr2	136579616	136579616	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaacttgatgaacaactCagaaactcattaatatcaaa	18	11	5	7	0	3	3	3	2	0	1	3	4	3	4	0	1	4	0	0	1	7	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:136579616C>A	ENST00000264162.2	-	5	970	c.960G>T	c.(958-960)ctG>ctT	p.L320L	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	320	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATGAACAACTCAGAAACTCAT	0.313													13	31					1.05317e-09	1.1429e-09	1	0	A	136579616	C	A	136579616	2	1	193	1	0	0	0	0	0	0	0	1	8746	813	29	2		2	LCT	2	136579616	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	22988497	136579616	106619757	33	34048											
ACVR1	90	broad.mit.edu	37	chr2	158617419	158617419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caccatccgcctggccacttCccacaaaacaagtccaaagg	13	5	6	17	1	0	0	0	0	0	0	3	0	3	0	6	2	1	0	6	2	4	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:158617419C>G	ENST00000263640.3	-	9	1666	c.1237G>C	c.(1237-1239)Gaa>Caa	p.E413Q	ACVR1_ENST00000434821.1_Missense_Mutation_p.E413Q|ACVR1_ENST00000410057.2_Missense_Mutation_p.E413Q|ACVR1_ENST00000409283.2_Missense_Mutation_p.E413Q	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	413	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CTGGCCACTTCCCACAAAACA	0.433													5	34					0	0	0	0	G	158617419	C	G	158617419	3	3	193	1	0	0	0	0	1	0	0	0	220	864	30	2	304	2	ACVR1	2	158617419	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	22037803	158617419	84581954	34	34049											
BAZ2B	29994	broad.mit.edu	37	chr2	160245956	160245956	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttacgctctttatttaatCttttctcatcacgtttttct	6	23	3	9	2	5	0	2	0	4	0	6	0	5	0	0	0	1	3	0	0	3	10			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:160245956C>G	ENST00000392783.2	-	21	3611	c.3116G>C	c.(3115-3117)aGa>aCa	p.R1039T	AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1003T|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1005T|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R939T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1039	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTATTTAATCTTTTCTCATC	0.323													23	56					0	0	0	0	G	160245956	C	G	160245956	3	3	193	1	0	0	0	0	1	0	0	0	1336	913	32	2	3458	2	BAZ2B	2	160245956	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	1628537	160245956	82953417	35	34050											
TTN	7273	broad.mit.edu	37	chr2	179579947	179579947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgaacatcagctccttTcagtgtctctataggatgag	11	12	10	8	0	3	2	2	2	1	0	5	3	4	3	1	2	2	1	1	2	4	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:179579947T>C	ENST00000589042.1	-	90	26190	c.25966A>G	c.(25966-25968)Aaa>Gaa	p.K8656E	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K7412E|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K8339E|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8339	Ig-like 69.						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)			TCAGCTCCTTTCAGTGTCTCT	0.398													40	92					0	0	0	0	C	179579947	T	C	179579947	3	2	193	1	0	0	0	0	1	0	0	0	16831	1792	62	5	78655	5	TTN	2	179579947	Missense_Mutation	SNP	T	TCGA-CR-7365-01A-11D-2012-08	19333991	179579947	63619426	36	34051											
ANKAR	150709	broad.mit.edu	37	chr2	190571721	190571721	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagcactggacactattcaAtacctgttttctatcggtgc	9	13	9	10	1	2	0	1	0	1	0	3	2	2	2	1	3	3	2	1	3	4	6			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:190571721A>G	ENST00000520309.1	+	9	2056	c.1968A>G	c.(1966-1968)caA>caG	p.Q656Q	ANKAR_ENST00000438402.2_Silent_p.Q656Q|ANKAR_ENST00000431575.2_Silent_p.Q585Q|ANKAR_ENST00000313581.4_Silent_p.Q656Q|ANKAR_ENST00000281412.6_Silent_p.Q420Q	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	656						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ACACTATTCAATACCTGTTTT	0.353													10	66					0	0	0	0	G	190571721	A	G	190571721	2	3	193	1	0	0	0	0	0	0	0	1	623	98	4	5		5	ANKAR	2	190571721	Silent	SNP	A	TCGA-CR-7365-01A-11D-2012-08	10991774	190571721	52627652	37	34052											
OSGEPL1	64172	broad.mit.edu	37	chr2	190617430	190617430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaatgcccaagccagcaCgtagtctttcaataccattc	13	10	6	12	1	2	0	1	0	1	0	3	0	2	0	3	0	4	3	3	0	6	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:190617430C>T	ENST00000264151.5	-	7	1217	c.1115G>A	c.(1114-1116)cGt>cAt	p.R372H	OSGEPL1_ENST00000522700.1_Missense_Mutation_p.R372H|OSGEPL1_ENST00000519810.1_Intron	NM_022353.2	NP_071748.2	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	372					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			CAAGCCAGCACGTAGTCTTTC	0.343													28	59					0	0	0	0	T	190617430	C	T	190617430	3	4	193	1	0	0	0	0	1	0	0	0	11359	536	19	1	137	1	OSGEPL1	2	190617430	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	45709	190617430	52581943	38	34053											
ABCA12	26154	broad.mit.edu	37	chr2	215797408	215797408	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacacttatagtggaaccttGgctgctggtatcagcagttt	10	13	10	8	0	1	0	1	0	0	0	1	1	1	1	1	3	4	5	1	3	5	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:215797408G>C	ENST00000272895.7	-	53	7957	c.7738C>G	c.(7738-7740)Caa>Gaa	p.Q2580E	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.Q2262E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2580					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTGGAACCTTGGCTGCTGGTA	0.423													14	42					0	0	0	0	C	215797408	G	C	215797408	3	2	193	1	0	0	0	0	1	0	0	0	30	1357	47	4	53	4	ABCA12	2	215797408	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	25179978	215797408	27401965	39	34054											
KALRN	8997	broad.mit.edu	37	chr3	124398320	124398320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaggagacgaacagttccGaggaatcagagtgtgatgat	14	8	13	6	2	2	4	2	2	0	2	3	8	3	5	1	2	1	1	1	2	3	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr3:124398320G>A	ENST00000360013.3	+	51	7460	c.7333G>A	c.(7333-7335)Gag>Aag	p.E2445K	KALRN_ENST00000428018.2_Missense_Mutation_p.E716K|KALRN_ENST00000462213.1_Missense_Mutation_p.E62K|KALRN_ENST00000291478.4_Missense_Mutation_p.E748K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2444					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAACAGTTCCGAGGAATCAGA	0.428													38	122					0	0	0	0	A	124398320	G	A	124398320	3	1	193	1	0	0	0	0	1	0	0	0	8028	1059	37	1	7691	1	KALRN	3	124398320	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08		124398320	73624110	40	34055											
HLTF	6596	broad.mit.edu	37	chr3	148781271	148781271	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaaacttactcttctccttGatatctgaaatactgggttg	10	15	7	9	1	3	2	0	2	3	0	4	3	3	2	1	1	3	1	1	1	5	6			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr3:148781271G>C	ENST00000310053.5	-	10	1300	c.1107C>G	c.(1105-1107)atC>atG	p.I369M	HLTF_ENST00000494055.1_Missense_Mutation_p.I369M|HLTF_ENST00000465259.1_Missense_Mutation_p.I369M|HLTF_ENST00000392912.2_Missense_Mutation_p.I369M	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	369					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCTTCTCCTTGATATCTGAAA	0.333													25	61					0	0	0	0	C	148781271	G	C	148781271	3	2	193	1	0	0	0	0	1	0	0	0	7265	1280	45	2	1986	2	HLTF	3	148781271	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	24382951	148781271	49241159	41	34056											
TNIK	23043	broad.mit.edu	37	chr3	170786641	170786641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctgagtacttacatgaGatggtatgtagatatcataa	14	14	8	5	0	2	3	1	2	1	2	2	4	2	3	0	1	2	3	0	1	6	7			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr3:170786641G>T	ENST00000436636.2	-	30	4039	c.3695C>A	c.(3694-3696)tCt>tAt	p.S1232Y	TNIK_ENST00000470834.1_Missense_Mutation_p.S1195Y|TNIK_ENST00000538048.1_Missense_Mutation_p.S1184Y|TNIK_ENST00000488470.1_Missense_Mutation_p.S1177Y|TNIK_ENST00000475336.1_Missense_Mutation_p.S1140Y|TNIK_ENST00000369326.5_Missense_Mutation_p.S1210Y|TNIK_ENST00000357327.5_Missense_Mutation_p.S1203Y|TNIK_ENST00000341852.6_Missense_Mutation_p.S1148Y|TNIK_ENST00000284483.8_Missense_Mutation_p.S1224Y|TNIK_ENST00000460047.1_Missense_Mutation_p.S1169Y	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1232	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACTTACATGAGATGGTATGTA	0.363													8	46					0.000157383	0.000163462	1	0	T	170786641	G	T	170786641	3	4	193	1	0	0	0	0	1	0	0	0	16407	942	33	2	403	2	TNIK	3	170786641	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	22005370	170786641	27235789	42	34057											
GRK4	2868	broad.mit.edu	37	chr4	3021418	3021418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgccttgtgcttggtgctCaccattatgaatggagggga	8	12	14	7	0	1	1	1	1	0	0	1	4	1	3	2	4	3	2	2	4	2	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:3021418C>T	ENST00000398052.4	+	9	1135	c.792C>T	c.(790-792)ctC>ctT	p.L264L	GRK4_ENST00000345167.6_Silent_p.L232L|GRK4_ENST00000504933.1_Silent_p.L264L|GRK4_ENST00000398051.4_Silent_p.L232L	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	264	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTTGGTGCTCACCATTATGA	0.433													44	60					0	0	0	0	T	3021418	C	T	3021418	2	4	193	1	0	0	0	0	0	0	0	1	6841	813	29	2		2	GRK4	4	3021418	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08		3021418	188132858	43	34058											
STX18	53407	broad.mit.edu	37	chr4	4458949	4458949	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccaccactcttttaactcGgatggctctctgttctgagt	7	15	7	12	1	3	1	0	1	3	0	6	2	4	2	2	2	1	2	2	2	1	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:4458949G>T	ENST00000306200.2	-	5	529	c.466C>A	c.(466-468)Cga>Aga	p.R156R	STX18_ENST00000505286.1_Silent_p.R156R	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	156					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CTTTTAACTCGGATGGCTCTC	0.343													7	26					3.09899e-07	3.31838e-07	1	0	T	4458949	G	T	4458949	2	4	193	1	0	0	0	0	0	0	0	1	15431	1124	39	3		3	STX18	4	4458949	Silent	SNP	G	TCGA-CR-7365-01A-11D-2012-08	1437531	4458949	186695327	44	34059											
NCAPG	64151	broad.mit.edu	37	chr4	17841312	17841313	+	Frame_Shift_Ins	INS	-	-	T																															ttttaggccttaacagtacaINStgacaatttggctatgaaaa																										TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:17841312_17841313insT	ENST00000251496.2	+	17	2656_2657	c.2480_2481insT	c.(2479-2481)cgafs	p.R827fs		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	827					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TTAACAGTACATGACAATTTGG	0.312													9	31	---	---	---	---					T	17841313	-	T	17841312	7	5	193	1	0	1	1	0	0	0	0	0	10277	217	8	0	2546	0	NCAPG	4	17841312	Frame_Shift_Ins	INS	-	TCGA-CR-7365-01A-11D-2012-08	13382363	17841312	173312964	45	34060											
UGT2A1	10941	broad.mit.edu	37	chr4	70512979	70512979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgttggtttttaagaacGccatcacagatctcctgaga	11	12	9	9	1	2	3	1	1	1	3	3	4	2	3	2	1	2	3	2	1	2	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:70512979G>A	ENST00000503640.1	-	1	439	c.384C>T	c.(382-384)ggC>ggT	p.G128G	UGT2A1_ENST00000286604.4_Silent_p.G128G|UGT2A1_ENST00000512704.1_Silent_p.G128G|UGT2A1_ENST00000514019.1_Silent_p.G128G	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	128					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTAAGAACGCCATCACAGA	0.418													19	36					0	0	0	0	A	70512979	G	A	70512979	2	1	193	1	0	0	0	0	0	0	0	1	17049	1074	38	1		1	UGT2A1	4	70512979	Silent	SNP	G	TCGA-CR-7365-01A-11D-2012-08	52671667	70512979	120641297	46	34061											
CNOT6L	246175	broad.mit.edu	37	chr4	78641757	78641757	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccccaggacaccaagcacgTtcatatgagtcttggaatag	12	8	10	11	1	2	1	1	1	1	0	2	3	2	3	3	2	1	2	3	2	4	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:78641757T>A	ENST00000504123.1	-	12	1626	c.1496A>T	c.(1495-1497)aAc>aTc	p.N499I	CNOT6L_ENST00000264903.4_Missense_Mutation_p.N499I			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	499					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						ACCAAGCACGTTCATATGAGT	0.428													40	131					0	0	0	0	A	78641757	T	A	78641757	3	1	193	1	0	0	0	0	1	0	0	0	3653	1725	60	5	175	5	CNOT6L	4	78641757	Missense_Mutation	SNP	T	TCGA-CR-7365-01A-11D-2012-08	8128778	78641757	112512519	47	34062											
EGF	1950	broad.mit.edu	37	chr4	110866313	110866313	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaatttggatagccaacaaAcacactggaaaggacatggt	17	7	9	8	0	0	0	0	0	0	0	0	3	0	3	1	4	3	0	1	4	5	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:110866313A>G	ENST00000265171.5	+	5	1267	c.822A>G	c.(820-822)aaA>aaG	p.K274K	EGF_ENST00000503392.1_Silent_p.K274K|EGF_ENST00000509793.1_Silent_p.K274K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	274					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TAGCCAACAAACACACTGGAA	0.398													7	23					0	0	0	0	G	110866313	A	G	110866313	2	3	193	1	0	0	0	0	0	0	0	1	4998	40	2	5		5	EGF	4	110866313	Silent	SNP	A	TCGA-CR-7365-01A-11D-2012-08	32224556	110866313	80287963	48	34063											
DCHS2	54798	broad.mit.edu	37	chr4	155161884	155161884	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcaaacttggttccaggAttactctctttggcaaaact	12	13	7	9	0	1	0	0	0	1	0	3	1	2	1	1	3	4	3	1	3	5	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:155161884A>G	ENST00000357232.3	-	23	5798	c.5799T>C	c.(5797-5799)aaT>aaC	p.N1933N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1933	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGTTCCAGGATTACTCTCTT	0.383													16	55					0	0	0	0	G	155161884	A	G	155161884	2	3	193	1	0	0	0	0	0	0	0	1	4320	330	12	5		5	DCHS2	4	155161884	Silent	SNP	A	TCGA-CR-7365-01A-11D-2012-08	44295571	155161884	35992392	49	34064											
AHRR	57491	broad.mit.edu	37	chr5	422960	422960	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtttgggcagcccccGcccttggagacaggtgggtg	4	9	18	10	1	0	1	0	0	0	1	0	2	0	1	3	5	1	2	3	5	0	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:422960G>A	ENST00000316418.5	+	6	614	c.570G>A	c.(568-570)ccG>ccA	p.P190P	AHRR_ENST00000506456.1_Silent_p.P46P|AHRR_ENST00000512529.1_Silent_p.P36P|AHRR_ENST00000505113.1_Silent_p.P190P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGCAGCCCCCGCCCTTGGAGA	0.592													6	47					0	0	0	0	A	422960	G	A	422960	2	1	193	1	0	0	0	0	0	0	0	1	417	1074	38	1		1	AHRR	5	422960	Silent	SNP	G	TCGA-CR-7365-01A-11D-2012-08		422960	180492300	50	34065											
SPEF2	79925	broad.mit.edu	37	chr5	35692806	35692806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctctaccagttctgcaaGaggagattaaagaaagccag	15	8	10	8	0	2	3	0	0	2	3	2	4	2	3	2	1	4	3	2	1	5	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:35692806G>A	ENST00000440995.2	+	12	1879	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	SPEF2_ENST00000509059.1_Missense_Mutation_p.E627K|SPEF2_ENST00000356031.3_Missense_Mutation_p.E627K|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	627					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTTCTGCAAGAGGAGATTAA	0.393													21	41					0	0	0	0	A	35692806	G	A	35692806	3	1	193	1	0	0	0	0	1	0	0	0	15125	943	33	2	1946	2	SPEF2	5	35692806	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	35269846	35692806	145222454	51	34066											
VCAN	1462	broad.mit.edu	37	chr5	82834175	82834175	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccaacacagtctgaaaggGaaatgacagattctactcct	15	8	7	11	0	2	3	0	2	2	1	3	4	3	4	2	1	2	0	2	1	4	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:82834175G>T	ENST00000265077.3	+	8	5918	c.5353G>T	c.(5353-5355)Gaa>Taa	p.E1785*	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Nonsense_Mutation_p.E798*|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1785	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E1785*(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTCTGAAAGGGAAATGACAGA	0.403													27	24					2.24059e-21	2.55766e-21	1	0	T	82834175	G	T	82834175	4	4	193	1	0	0	0	0	0	1	0	0	17234	1175	41	2	5379	2	VCAN	5	82834175	Nonsense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	47141369	82834175	98081085	52	34067											
RASA1	5921	broad.mit.edu	37	chr5	86675622	86675622	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacctattgaacatactttCagagcttgtggagaaaatat	15	12	7	7	0	1	3	1	1	0	2	1	4	1	3	1	1	3	1	1	1	6	6			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:86675622C>G	ENST00000456692.2	+	19	2142	c.2027C>G	c.(2026-2028)tCa>tGa	p.S676*	RASA1_ENST00000512763.1_Nonsense_Mutation_p.S686*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.S853*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.S687*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	853	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AACATACTTTCAGAGCTTGTG	0.303													14	17					0	0	0	0	G	86675622	C	G	86675622	4	3	193	1	0	0	0	0	0	1	0	0	13142	838	29	2	2644	2	RASA1	5	86675622	Nonsense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	3841447	86675622	94239638	53	34068											
LOX	4015	broad.mit.edu	37	chr5	121405752	121405752	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaataacacttacggtgAaattgtgcagcctgaggcat	14	9	10	8	1	0	2	0	2	0	0	0	2	0	2	1	2	5	3	1	2	4	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:121405752A>T	ENST00000231004.4	-	6	1542	c.1243T>A	c.(1243-1245)Tca>Aca	p.S415T	SRFBP1_ENST00000504881.1_Intron|LOX_ENST00000513319.1_5'UTR	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	415	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		ACTTACGGTGAAATTGTGCAG	0.403													31	35					0	0	0	0	T	121405752	A	T	121405752	3	4	193	1	0	0	0	0	1	0	0	0	8962	246	9	5	18	5	LOX	5	121405752	Missense_Mutation	SNP	A	TCGA-CR-7365-01A-11D-2012-08	34730130	121405752	59509508	54	34069											
ADAMTS19	171019	broad.mit.edu	37	chr5	128984583	128984583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaggtttgcctggattcaGagactggcaatgtcaggctt	8	12	13	8	0	2	1	2	0	0	1	2	3	2	2	1	4	2	4	1	4	1	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:128984583G>C	ENST00000274487.4	+	13	2223	c.2078G>C	c.(2077-2079)aGa>aCa	p.R693T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	693	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCTGGATTCAGAGACTGGCAA	0.448													48	44					0	0	0	0	C	128984583	G	C	128984583	3	2	193	1	0	0	0	0	1	0	0	0	264	942	33	2	2128	2	ADAMTS19	5	128984583	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	7578831	128984583	51930677	55	34070											
RNF14	9604	broad.mit.edu	37	chr5	141358012	141358012	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagctcaagattggttctCagaaaaaagtgcagagaagg	15	9	12	5	0	2	4	2	1	1	3	3	5	2	4	0	2	2	3	0	2	5	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:141358012C>T	ENST00000394520.2	+	5	760	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_Nonsense_Mutation_p.Q25*|RNF14_ENST00000394519.1_Nonsense_Mutation_p.Q151*|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000356143.1_Nonsense_Mutation_p.Q151*|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000347642.3_Nonsense_Mutation_p.Q151*	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	151					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GATTGGTTCTCAGAAAAAAGT	0.463													11	11					0	0	0	0	T	141358012	C	T	141358012	4	4	193	1	0	0	0	0	0	1	0	0	13528	827	29	2	461	2	RNF14	5	141358012	Nonsense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	12373429	141358012	39557248	56	34071											
RNF14	9604	broad.mit.edu	37	chr5	141358039	141358039	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtgcagagaaggacagctCaagcttctcccaacacagag	15	5	10	11	0	2	2	1	0	1	2	3	4	2	3	1	1	4	3	1	1	4	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:141358039C>G	ENST00000394520.2	+	5	787	c.478C>G	c.(478-480)Caa>Gaa	p.Q160E	RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_Missense_Mutation_p.Q34E|RNF14_ENST00000394519.1_Missense_Mutation_p.Q160E|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000356143.1_Missense_Mutation_p.Q160E|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000347642.3_Missense_Mutation_p.Q160E	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	160					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AAGGACAGCTCAAGCTTCTCC	0.443													6	15					0	0	0	0	G	141358039	C	G	141358039	3	3	193	1	0	0	0	0	1	0	0	0	13528	827	29	2	488	2	RNF14	5	141358039	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	27	141358039	39557221	57	34072											
HIST1H2BB	3018	broad.mit.edu	37	chr6	26043802	26043802	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcggctgcgcttacgcttCttaccatccttcttctgcgc	3	15	8	15	4	3	0	0	0	3	0	4	0	4	0	2	1	5	3	2	1	2	6			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:26043802C>G	ENST00000357905.2	-	1	83	c.84G>C	c.(82-84)aaG>aaC	p.K28N		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	28					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCTTACGCTTCTTACCATCCT	0.507													38	117					0	0	0	0	G	26043802	C	G	26043802	3	3	193	1	0	0	0	0	1	0	0	0	7191	912	32	2	300	2	HIST1H2BB	6	26043802	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08		26043802	145071265	58	34073											
HIST1H3D	8351	broad.mit.edu	37	chr6	26197074	26197074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attcacaagacaatttacgcCctctccccacgaatgcggcg	11	8	7	15	4	2	1	1	0	1	1	3	2	2	1	3	1	2	0	3	1	4	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:26197074C>A	ENST00000377831.5	-	2	858	c.405G>T	c.(403-405)agG>agT	p.R135S	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.R135S	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	135				Missing (in Ref. 2; AAA52651).	blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CAATTTACGCCCTCTCCCCAC	0.502													28	40					7.26314e-15	8.17526e-15	1	0	A	26197074	C	A	26197074	3	1	193	1	0	0	0	0	1	0	0	0	7208	622	22	4	9	4	HIST1H3D	6	26197074	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	153272	26197074	144917993	59	34074											
DDR1	780	broad.mit.edu	37	chr6	30859860	30859860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagagtcaggagctgcgggtCtggccaggctatgactatgt	9	9	15	8	1	2	2	1	1	1	1	2	3	2	3	1	4	2	2	1	4	3	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:30859860C>G	ENST00000446312.1	+	8	980	c.647C>G	c.(646-648)tCt>tGt	p.S216C	DDR1_ENST00000376575.3_Silent_p.V249V|DDR1_ENST00000376567.2_Silent_p.V249V|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000324771.8_Silent_p.V249V|DDR1_ENST00000376570.4_Silent_p.V249V|DDR1_ENST00000452441.1_Silent_p.V249V|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000454612.2_Silent_p.V249V|DDR1_ENST00000376569.3_Silent_p.V249V|DDR1_ENST00000513240.1_Silent_p.V249V|DDR1_ENST00000508312.1_Silent_p.V267V|DDR1_ENST00000418800.2_Silent_p.V249V|DDR1_ENST00000376568.3_Silent_p.V249V			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	0					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGCTGCGGGTCTGGCCAGGCT	0.577													54	89					0	0	0	0	G	30859860	C	G	30859860	3	3	193	1	0	0	0	0	1	0	0	0	4368	900	32	2	769	2	DDR1	6	30859860	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	4662786	30859860	140255207	60	34075											
DDR1	780	broad.mit.edu	37	chr6	30860256	30860256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggccgtgtggctcgctttCtgcagtgccgcttcctcttt	1	14	12	14	4	2	0	0	0	2	0	4	0	3	0	3	2	2	4	3	2	0	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:30860256C>T	ENST00000324771.8	+	10	1584	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	DDR1_ENST00000376575.3_Silent_p.L346L|DDR1_ENST00000376567.2_Silent_p.L346L|DDR1_ENST00000361741.4_Silent_p.L77L|DDR1_ENST00000376570.4_Silent_p.L346L|DDR1_ENST00000452441.1_Silent_p.L346L|DDR1_ENST00000454612.2_Silent_p.L346L|DDR1_ENST00000376569.3_Silent_p.L346L|DDR1_ENST00000513240.1_Silent_p.L346L|DDR1_ENST00000508312.1_Silent_p.L364L|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000418800.2_Silent_p.L346L|DDR1_ENST00000376568.3_Silent_p.L346L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	346					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGCTCGCTTTCTGCAGTGCCG	0.637													35	33					0	0	0	0	T	30860256	C	T	30860256	2	4	193	1	0	0	0	0	0	0	0	1	4368	912	32	2		2	DDR1	6	30860256	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	396	30860256	140254811	61	34076											
DDR1	780	broad.mit.edu	37	chr6	30862324	30862324	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggagctgacggttcacctCtctgtccctggggacactat	7	10	12	12	1	2	1	1	1	1	0	4	4	3	3	2	4	1	2	2	4	1	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:30862324C>G	ENST00000324771.8	+	13	1937	c.1389C>G	c.(1387-1389)ctC>ctG	p.L463L	DDR1_ENST00000376575.3_Silent_p.L463L|DDR1_ENST00000376567.2_Silent_p.L463L|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376570.4_Silent_p.L463L|DDR1_ENST00000452441.1_Silent_p.L463L|DDR1_ENST00000454612.2_Silent_p.L463L|DDR1_ENST00000376569.3_Silent_p.L463L|DDR1_ENST00000513240.1_Silent_p.L463L|DDR1_ENST00000508312.1_Silent_p.L481L|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000418800.2_Silent_p.L463L|DDR1_ENST00000376568.3_Silent_p.L463L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	463					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGGTTCACCTCTCTGTCCCTG	0.632													46	52					0	0	0	0	G	30862324	C	G	30862324	2	3	193	1	0	0	0	0	0	0	0	1	4368	900	32	2		2	DDR1	6	30862324	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	2068	30862324	140252743	62	34077											
CCHCR1	54535	broad.mit.edu	37	chr6	31118878	31118878	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actggaaagagcctcctcgtGagcctgtgtcaaagaggaca	12	7	12	10	1	1	3	1	1	0	2	3	5	2	5	3	2	2	0	3	2	2	0			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:31118878G>C	ENST00000396268.3	-	5	1011	c.823C>G	c.(823-825)Cac>Gac	p.H275D	CCHCR1_ENST00000396263.2_Missense_Mutation_p.H186D|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Missense_Mutation_p.H239D|CCHCR1_ENST00000376266.5_Missense_Mutation_p.H186D	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	186			E -> D (in dbSNP:rs130067).		cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GCCTCCTCGTGAGCCTGTGTC	0.572													41	146					0	0	0	0	C	31118878	G	C	31118878	3	2	193	1	0	0	0	0	1	0	0	0	2904	1290	45	2	1848	2	CCHCR1	6	31118878	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	256554	31118878	139996189	63	34078											
MOCS1	4337	broad.mit.edu	37	chr6	39874211	39874211	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacacgatgtccctgctGacagccttgcacatgtcata	10	10	7	14	1	1	1	1	1	0	0	3	2	3	1	3	0	4	2	3	0	2	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:39874211G>T	ENST00000308559.7	-	10	1918	c.1785C>A	c.(1783-1785)gtC>gtA	p.V595V	MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000340692.5_Silent_p.V611V|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000373195.3_Silent_p.V508V|MOCS1_ENST00000425303.2_Silent_p.V611V|MOCS1_ENST00000373175.4_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	611	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGTCCCTGCTGACAGCCTTGC	0.627													72	96					3.61411e-23	4.16483e-23	1	0	T	39874211	G	T	39874211	2	4	193	1	0	0	0	0	0	0	0	1	9760	1305	45	2		2	MOCS1	6	39874211	Silent	SNP	G	TCGA-CR-7365-01A-11D-2012-08	8755333	39874211	131240856	64	34079											
CUL7	9820	broad.mit.edu	37	chr6	43007895	43007895	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctgcctggctgctcactCttgttgtagaagttggagta	6	14	11	10	0	3	1	1	0	2	1	3	2	3	2	2	2	2	6	2	2	3	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:43007895C>G	ENST00000535468.1	-	22	4631	c.4546_splice	c.e22+1	p.K1515_splice	CUL7_ENST00000265348.3_Splice_Site_p.K1431_splice	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1431					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCTGCTCACTCTTGTTGTAGA	0.592													23	112					0	0	0	0	G	43007895	C	G	43007895	5	3	193	1	0	0	0	0	0	0	1	0	4092	927	32	2	823	2	CUL7	6	43007895	Splice_Site	SNP	C	TCGA-CR-7365-01A-11D-2012-08	3133684	43007895	128107172	65	34080											
CUL7	9820	broad.mit.edu	37	chr6	43008291	43008291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tattttcttctctgtatcctCcagcttcaggagttcctgat	6	18	6	11	0	3	1	1	1	2	0	7	2	6	2	3	1	1	3	3	1	2	7			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:43008291C>T	ENST00000535468.1	-	21	4338	c.4252G>A	c.(4252-4254)Gag>Aag	p.E1418K	CUL7_ENST00000265348.3_Missense_Mutation_p.E1334K	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1334					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCTGTATCCTCCAGCTTCAGG	0.567													57	187					0	0	0	0	T	43008291	C	T	43008291	3	4	193	1	0	0	0	0	1	0	0	0	4092	864	30	2	1120	2	CUL7	6	43008291	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	396	43008291	128106776	66	34081											
SPATS1	221409	broad.mit.edu	37	chr6	44337822	44337822	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agaaatttgatacatttattCcacttgagcctcttccacaa	13	14	4	10	0	1	3	0	2	1	1	3	3	3	3	3	0	2	0	3	0	4	7			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:44337822C>G	ENST00000288390.2	+	6	1077	c.730C>G	c.(730-732)Cca>Gca	p.P244A	SPATS1_ENST00000323108.8_Missense_Mutation_p.P244A			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	244										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACATTTATTCCACTTGAGCC	0.323													42	54					0	0	0	0	G	44337822	C	G	44337822	3	3	193	1	0	0	0	0	1	0	0	0	15108	855	30	2	752	2	SPATS1	6	44337822	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	1329531	44337822	126777245	67	34082											
DST	667	broad.mit.edu	37	chr6	56338733	56338733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaggaaggatcagcagctCtcctcttataggtcttcgtt	9	13	10	9	1	4	1	1	1	3	0	6	3	4	3	1	3	2	3	1	3	3	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:56338733C>T	ENST00000370754.5	-	93	21838	c.21839G>A	c.(21838-21840)aGa>aAa	p.R7280K	DST_ENST00000421834.2_Missense_Mutation_p.R5014K|DST_ENST00000244364.6_Missense_Mutation_p.R4688K|DST_ENST00000446842.2_Missense_Mutation_p.R6776K|DST_ENST00000370769.4_Missense_Mutation_p.R7102K|DST_ENST00000370788.2_Missense_Mutation_p.R4905K|DST_ENST00000361203.3_Missense_Mutation_p.R6991K|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7100	GAR.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCAGCAGCTCTCCTCTTATA	0.373													11	5					0	0	0	0	T	56338733	C	T	56338733	3	4	193	1	0	0	0	0	1	0	0	0	4819	913	32	2	1496	2	DST	6	56338733	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	12000911	56338733	114776334	68	34083											
DDX43	55510	broad.mit.edu	37	chr6	74114465	74114466	+	Frame_Shift_Ins	INS	-	-	A																															agtccactgccacaagtgccINSatgtcaaaagtagaagcaga																										TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:74114465_74114466insA	ENST00000370336.4	+	5	779_780	c.621_622insA	c.(619-624)gctgtcfs	p.V208fs	DDX43_ENST00000539829.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	208						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCACAAGTGCCATGTCAAAAGT	0.361													75	102	---	---	---	---					A	74114466	-	A	74114465	7	5	193	1	0	1	1	0	0	0	0	0	4395	581	21	0	639	0	DDX43	6	74114465	Frame_Shift_Ins	INS	-	TCGA-CR-7365-01A-11D-2012-08	17775732	74114465	97000602	69	34084											
ZUFSP	221302	broad.mit.edu	37	chr6	116968707	116968707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaagaataatagttcaatatCcattcaaataagcgagggtg	17	10	9	5	1	2	1	2	0	0	1	3	3	3	1	1	1	1	1	1	1	8	6			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:116968707C>G	ENST00000368576.3	-	8	1626	c.1383G>C	c.(1381-1383)tgG>tgC	p.W461C		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	461						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AGTTCAATATCCATTCAAATA	0.353													21	54					0	0	0	0	G	116968707	C	G	116968707	3	3	193	1	0	0	0	0	1	0	0	0	18337	856	30	2	365	2	ZUFSP	6	116968707	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	42854242	116968707	54146360	70	34085											
PLEKHG1	57480	broad.mit.edu	37	chr6	151161325	151161325	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcagcgtggtagtaagtCagcccaacaaagagaactgg	14	6	13	8	1	1	1	1	0	0	1	1	3	1	1	1	2	5	3	1	2	5	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:151161325C>T	ENST00000367328.1	+	17	3763	c.3451C>T	c.(3451-3453)Cag>Tag	p.Q1151*	PLEKHG1_ENST00000358517.2_Nonsense_Mutation_p.Q1151*	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1151					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGTAGTAAGTCAGCCCAACAA	0.522													25	114					0	0	0	0	T	151161325	C	T	151161325	4	4	193	1	0	0	0	0	0	1	0	0	12140	827	29	2	3509	2	PLEKHG1	6	151161325	Nonsense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	34192618	151161325	19953742	71	34086											
SERAC1	84947	broad.mit.edu	37	chr6	158535902	158535902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagccaaacgtgatccatGatgagggacactataaaaaa	17	8	8	8	1	1	3	1	3	0	0	2	4	2	4	2	1	2	0	2	1	5	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:158535902G>A	ENST00000367104.3	-	15	1734	c.1603C>T	c.(1603-1605)Cat>Tat	p.H535Y	SERAC1_ENST00000367101.1_3'UTR|SERAC1_ENST00000367102.2_3'UTR	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	535					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CGTGATCCATGATGAGGGACA	0.383													62	110					0	0	0	0	A	158535902	G	A	158535902	3	1	193	1	0	0	0	0	1	0	0	0	14161	1290	45	2	373	2	SERAC1	6	158535902	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	7374577	158535902	12579165	72	34087											
TTLL2	83887	broad.mit.edu	37	chr6	167753771	167753771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacctgtactggaggacatCctctttccgaatgaccgaac	11	9	9	12	2	1	1	0	1	1	0	3	6	3	3	4	2	3	1	4	2	4	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:167753771C>T	ENST00000239587.5	+	3	471	c.383C>T	c.(382-384)tCc>tTc	p.S128F		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	128	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGAGGACATCCTCTTTCCGA	0.537													5	24					0	0	0	0	T	167753771	C	T	167753771	3	4	193	1	0	0	0	0	1	0	0	0	16823	855	30	2	393	2	TTLL2	6	167753771	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	9217869	167753771	3361296	73	34088											
DNAH11	8701	broad.mit.edu	37	chr7	21847506	21847506	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctttcagtcagagaagAttcgctggggtcaatccatt	10	13	9	9	1	5	2	4	0	1	2	7	3	6	2	1	2	0	1	1	2	2	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:21847506A>G	ENST00000328843.6	+	64	10223	c.10192A>G	c.(10192-10194)Att>Gtt	p.I3398V	DNAH11_ENST00000409508.3_Missense_Mutation_p.I3391V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3398	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCAGAGAAGATTCGCTGGGG	0.443									Kartagener syndrome				15	14					0	0	0	0	G	21847506	A	G	21847506	3	3	193	1	0	0	0	0	1	0	0	0	4636	333	12	5	10443	5	DNAH11	7	21847506	Missense_Mutation	SNP	A	TCGA-CR-7365-01A-11D-2012-08		21847506	137291157	74	34089											
DFNA5	1687	broad.mit.edu	37	chr7	24784316	24784316	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtgcagtctccagggttCcactcacgtggtttgcaaac	8	10	10	13	1	2	0	1	0	1	0	4	0	3	0	3	2	3	4	3	2	1	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:24784316C>A	ENST00000342947.3	-	3	694	c.269G>T	c.(268-270)gGa>gTa	p.G90V	DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.G90V|DFNA5_ENST00000419307.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	90					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CTCCAGGGTTCCACTCACGTG	0.562													50	48					7.89702e-26	9.14392e-26	1	0	A	24784316	C	A	24784316	3	1	193	1	0	0	0	0	1	0	0	0	4491	855	30	2	1253	2	DFNA5	7	24784316	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	2936810	24784316	134354347	75	34090											
CYCS	54205	broad.mit.edu	37	chr7	25163649	25163649	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagaccatggagatttggCccagtcttgtgcttgcctcc	8	11	11	11	0	1	2	0	0	1	2	2	4	2	2	4	2	2	1	4	2	1	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:25163649C>T	ENST00000305786.2	-	2	259	c.90G>A	c.(88-90)ggG>ggA	p.G30G	CYCS_ENST00000409764.1_Silent_p.G30G|CYCS_ENST00000409409.1_Silent_p.G30G	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	30					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	GGAGATTTGGCCCAGTCTTGT	0.443													4	86					0	0	0	0	T	25163649	C	T	25163649	2	4	193	1	0	0	0	0	0	0	0	1	4168	726	26	4		4	CYCS	7	25163649	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	379333	25163649	133975014	76	34091											
POM121L12	285877	broad.mit.edu	37	chr7	53103452	53103452	+	Missense_Mutation	SNP	G	G	A																															tgcaaggccccgacgccctgGcggctcccatgagcaggtca																										TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:53103452G>A	ENST00000408890.4	+	1	104	c.88G>A	c.(88-90)Gcg>Acg	p.A30T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	30										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGACGCCCTGGCGGCTCCCAT	0.697													13	42					0	0	0	0	A	53103452	G	A	53103452	3	1	193	1	0	0	0	0	1	0	0	0	12313	1203	42	4	90	4	POM121L12	7	53103452	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	27939803	53103452	106035211	77	34092	257	2									
POM121L12	285877	broad.mit.edu	37	chr7	53103453	53103453	+	Missense_Mutation	SNP	C	C	A																															gcaaggccccgacgccctggCggctcccatgagcaggtcac																										TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:53103453C>A	ENST00000408890.4	+	1	105	c.89C>A	c.(88-90)gCg>gAg	p.A30E		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	30										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GACGCCCTGGCGGCTCCCATG	0.692													13	42					0.000422831	0.000435426	1	0	A	53103453	C	A	53103453	3	1	193	1	0	0	0	0	1	0	0	0	12313	768	27	3	91	3	POM121L12	7	53103453	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	1	53103453	106035210	78	34093	257	2									
POM121L12	285877	broad.mit.edu	37	chr7	53103987	53103987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacagcaagggtggcaggcGgaacctgcagccccggccct	9	3	15	14	2	0	1	0	0	0	1	0	2	0	2	4	5	4	3	4	5	2	0			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:53103987G>A	ENST00000408890.4	+	1	639	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	208										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTGGCAGGCGGAACCTGCAG	0.667													42	59					0	0	0	0	A	53103987	G	A	53103987	3	1	193	1	0	0	0	0	1	0	0	0	12313	1116	39	1	625	1	POM121L12	7	53103987	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	534	53103987	106034676	79	34094											
MAGI2	9863	broad.mit.edu	37	chr7	78636436	78636436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaggtagaggttgtcacGaatgatttgctgaagctcat	10	11	14	6	2	2	3	2	2	0	1	2	5	2	4	0	3	2	4	0	3	3	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:78636436G>T	ENST00000354212.4	-	2	641	c.388C>A	c.(388-390)Cgt>Agt	p.R130S	MAGI2_ENST00000522391.1_Missense_Mutation_p.R130S|MAGI2_ENST00000419488.1_Missense_Mutation_p.R130S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	130	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGTTGTCACGAATGATTTGC	0.363													27	34					4.87955e-14	5.41675e-14	1	0	T	78636436	G	T	78636436	3	4	193	1	0	0	0	0	1	0	0	0	9260	1058	37	3	4063	3	MAGI2	7	78636436	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	25532449	78636436	80502227	80	34095											
INTS10	55174	broad.mit.edu	37	chr8	19681434	19681434	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcaaacgtagctctcagAagtacataatagaagggctg	15	8	10	8	1	1	2	1	0	1	2	2	2	1	2	0	1	4	5	0	1	8	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:19681434A>G	ENST00000397977.3	+	7	1113	c.715A>G	c.(715-717)Aag>Gag	p.K239E		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	239					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TAGCTCTCAGAAGTACATAAT	0.398													24	50					0	0	0	0	G	19681434	A	G	19681434	3	3	193	1	0	0	0	0	1	0	0	0	7829	247	9	5	741	5	INTS10	8	19681434	Missense_Mutation	SNP	A	TCGA-CR-7365-01A-11D-2012-08		19681434	126682588	81	34096											
TRPA1	8989	broad.mit.edu	37	chr8	72958791	72958791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atataacatcctgtgtaggtGtttttttggtgaattctaat	10	19	8	4	0	1	1	0	1	1	0	2	1	2	1	1	2	1	2	1	2	5	8			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:72958791G>T	ENST00000262209.4	-	17	2225	c.2018C>A	c.(2017-2019)aCa>aAa	p.T673K	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	673						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGTGTAGGTGTTTTTTTGGT	0.269													19	45					3.8784e-16	4.38586e-16	1	0	T	72958791	G	T	72958791	3	4	193	1	0	0	0	0	1	0	0	0	16672	1377	48	4	1385	4	TRPA1	8	72958791	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	53277357	72958791	73405231	82	34097			1	51		2	2	17	N	G_C	9.561291e-05
TRPA1	8989	broad.mit.edu	37	chr8	72958807	72958807	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgtttttttggtgaattCtaatggacattgaagatatt	11	18	10	2	0	1	3	0	2	1	1	1	4	1	4	0	3	0	1	0	3	4	8			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:72958807C>G	ENST00000262209.4	-	17	2209	c.2002G>C	c.(2002-2004)Gaa>Caa	p.E668Q	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	668						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGGTGAATTCTAATGGACAT	0.294													11	38					0	0	0	0	G	72958807	C	G	72958807	3	3	193	1	0	0	0	0	1	0	0	0	16672	922	32	2	1401	2	TRPA1	8	72958807	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	16	72958807	73405215	83	34098			1	51		2	2	17	N	G_C	9.561291e-05
FZD6	8323	broad.mit.edu	37	chr8	104343656	104343656	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcagaaccaagcagcctCaaaggttccacatctctgct	11	10	6	14	0	4	1	2	0	2	1	6	1	5	1	3	1	4	3	3	1	3	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:104343656C>G	ENST00000358755.4	+	7	2357	c.2040C>G	c.(2038-2040)ctC>ctG	p.L680L	FZD6_ENST00000540287.1_Silent_p.L375L|FZD6_ENST00000523739.1_Silent_p.L648L|FZD6_ENST00000522566.1_Silent_p.L680L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	680					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CAAGCAGCCTCAAAGGTTCCA	0.448													34	105					0	0	0	0	G	104343656	C	G	104343656	2	3	193	1	0	0	0	0	0	0	0	1	6182	813	29	2		2	FZD6	8	104343656	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	31384849	104343656	42020366	84	34099											
TRPS1	7227	broad.mit.edu	37	chr8	116631735	116631735	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggcacttgtgggttttttGaggccactgaaactgggctc	8	12	13	8	0	0	2	0	2	0	0	1	2	0	2	1	4	1	3	1	4	2	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:116631735G>C	ENST00000395715.3	-	3	1167	c.590C>G	c.(589-591)tCa>tGa	p.S197*	TRPS1_ENST00000519076.1_Nonsense_Mutation_p.S138*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.S184*|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.S184*|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.S188*	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	184					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGGGTTTTTTGAGGCCACTGA	0.483									Langer-Giedion syndrome				21	139					0	0	0	0	C	116631735	G	C	116631735	4	2	193	1	0	0	0	0	0	1	0	0	16688	1294	45	2	3314	2	TRPS1	8	116631735	Nonsense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	12288079	116631735	29732287	85	34100											
PHF20L1	51105	broad.mit.edu	37	chr8	133837598	133837598	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagaagaaaaaaaagaaaAagaaatctaagcaacatggt	26	4	8	3	0	1	5	0	0	1	5	1	5	1	5	0	1	2	1	0	1	11	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:133837598A>G	ENST00000395386.2	+	14	2025	c.1726A>G	c.(1726-1728)Aag>Gag	p.K576E	PHF20L1_ENST00000395390.2_Missense_Mutation_p.K551E|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	576	Lys-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			aaaaaagaaaaagaaATCTAA	0.303													7	0					0	0	0	0	G	133837598	A	G	133837598	3	3	193	1	0	0	0	0	1	0	0	0	11904	15	1	5	1872	5	PHF20L1	8	133837598	Missense_Mutation	SNP	A	TCGA-CR-7365-01A-11D-2012-08	17205863	133837598	12526424	86	34101											
PLEC	5339	broad.mit.edu	37	chr8	144995066	144995066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccaggctgcgcaggccctCaaagcaaagccggcccttct	9	5	10	17	2	2	0	1	0	1	0	2	0	2	0	4	3	3	3	4	3	2	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144995066C>G	ENST00000322810.4	-	32	9503	c.9334G>C	c.(9334-9336)Gag>Cag	p.E3112Q	PLEC_ENST00000527096.1_Missense_Mutation_p.E2998Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2979Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2961Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2975Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2975Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2953Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3002Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2943Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3112	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCAGGCCCTCAAAGCAAAGC	0.647													13	35					0	0	0	0	G	144995066	C	G	144995066	3	3	193	1	0	0	0	0	1	0	0	0	12124	835	29	2	4724	2	PLEC	8	144995066	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	11157468	144995066	1368956	87	34102			2	52	72036259	6	6	1330	C		2.596504e-13
PLEC	5339	broad.mit.edu	37	chr8	144995127	144995127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatgatgatcttgatgatCttctccactgtgatccggcc	7	14	10	10	1	3	6	0	6	3	0	5	6	4	6	3	1	0	0	3	1	0	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144995127C>G	ENST00000322810.4	-	32	9442	c.9273G>C	c.(9271-9273)aaG>aaC	p.K3091N	PLEC_ENST00000527096.1_Missense_Mutation_p.K2977N|PLEC_ENST00000357649.2_Missense_Mutation_p.K2958N|PLEC_ENST00000356346.3_Missense_Mutation_p.K2940N|PLEC_ENST00000345136.3_Missense_Mutation_p.K2954N|PLEC_ENST00000354589.3_Missense_Mutation_p.K2954N|PLEC_ENST00000354958.2_Missense_Mutation_p.K2932N|PLEC_ENST00000436759.2_Missense_Mutation_p.K2981N|PLEC_ENST00000398774.2_Missense_Mutation_p.K2922N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3091	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTTGATGATCTTCTCCACTG	0.622													17	53					0	0	0	0	G	144995127	C	G	144995127	3	3	193	1	0	0	0	0	1	0	0	0	12124	912	32	2	4785	2	PLEC	8	144995127	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	61	144995127	1368895	88	34103			2	52	72036259	6	6	1330	C		2.596504e-13
PLEC	5339	broad.mit.edu	37	chr8	144995409	144995409	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgcaggtacgtgaggttCtcgtgcgtgttggggtcaaa	7	11	16	7	3	2	1	1	1	1	0	3	1	2	1	0	4	4	5	0	4	2	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144995409C>T	ENST00000322810.4	-	32	9160	c.8991G>A	c.(8989-8991)gaG>gaA	p.E2997E	PLEC_ENST00000527096.1_Silent_p.E2883E|PLEC_ENST00000357649.2_Silent_p.E2864E|PLEC_ENST00000356346.3_Silent_p.E2846E|PLEC_ENST00000345136.3_Silent_p.E2860E|PLEC_ENST00000354589.3_Silent_p.E2860E|PLEC_ENST00000354958.2_Silent_p.E2838E|PLEC_ENST00000436759.2_Silent_p.E2887E|PLEC_ENST00000398774.2_Silent_p.E2828E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2997	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGTGAGGTTCTCGTGCGTGT	0.657													31	128					0	0	0	0	T	144995409	C	T	144995409	2	4	193	1	0	0	0	0	0	0	0	1	12124	912	32	2		2	PLEC	8	144995409	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	282	144995409	1368613	89	34104			2	52	72036259	6	6	1330	C		2.596504e-13
PLEC	5339	broad.mit.edu	37	chr8	144996152	144996152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcgaggcagtgacctcctCtgagtgcgccagcgcggccc	5	6	14	16	4	1	2	0	2	1	0	2	3	2	2	4	2	3	1	4	2	0	0			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144996152C>G	ENST00000322810.4	-	32	8417	c.8248G>C	c.(8248-8250)Gag>Cag	p.E2750Q	PLEC_ENST00000527096.1_Missense_Mutation_p.E2636Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2617Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2599Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2613Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2613Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2591Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2640Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2581Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2750	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGACCTCCTCTGAGTGCGCC	0.687													4	45					0	0	0	0	G	144996152	C	G	144996152	3	3	193	1	0	0	0	0	1	0	0	0	12124	922	32	2	5810	2	PLEC	8	144996152	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	743	144996152	1367870	90	34105			2	52	72036259	6	6	1330	C		2.596504e-13
PLEC	5339	broad.mit.edu	37	chr8	144996219	144996219	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcacgcagcctctggttCtcctcagccagcagctcctc	5	10	8	18	1	4	0	2	0	2	0	7	0	5	0	4	1	5	5	4	1	0	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144996219C>T	ENST00000322810.4	-	32	8350	c.8181G>A	c.(8179-8181)gaG>gaA	p.E2727E	PLEC_ENST00000527096.1_Silent_p.E2613E|PLEC_ENST00000357649.2_Silent_p.E2594E|PLEC_ENST00000356346.3_Silent_p.E2576E|PLEC_ENST00000345136.3_Silent_p.E2590E|PLEC_ENST00000354589.3_Silent_p.E2590E|PLEC_ENST00000354958.2_Silent_p.E2568E|PLEC_ENST00000436759.2_Silent_p.E2617E|PLEC_ENST00000398774.2_Silent_p.E2558E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2727	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTCTGGTTCTCCTCAGCCA	0.701													4	27					0	0	0	0	T	144996219	C	T	144996219	2	4	193	1	0	0	0	0	0	0	0	1	12124	912	32	2		2	PLEC	8	144996219	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	67	144996219	1367803	91	34106			2	52	72036259	6	6	1330	C		2.596504e-13
PLEC	5339	broad.mit.edu	37	chr8	144996395	144996395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgccgctgctgctcctCacgcagctgctgtgccttgg	2	11	12	16	2	1	0	1	0	0	0	2	0	2	0	3	1	7	7	3	1	0	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144996395C>T	ENST00000322810.4	-	32	8174	c.8005G>A	c.(8005-8007)Gag>Aag	p.E2669K	PLEC_ENST00000527096.1_Missense_Mutation_p.E2555K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2536K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2518K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2532K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2532K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2510K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2559K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2500K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2669	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						tgctgctCCTCACGCAGCTGC	0.672													9	8					0	0	0	0	T	144996395	C	T	144996395	3	4	193	1	0	0	0	0	1	0	0	0	12124	835	29	2	6053	2	PLEC	8	144996395	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	176	144996395	1367627	92	34107			2	52	72036259	6	6	1330	C		2.596504e-13
SLC39A4	55630	broad.mit.edu	37	chr8	145638738	145638738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgaagttgtgcacggcgtCgcccagagtgatcatatagg	9	8	15	9	4	1	2	1	1	0	1	2	3	1	2	1	3	1	2	1	3	3	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:145638738C>T	ENST00000276833.5	-	9	1738	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N	SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_Missense_Mutation_p.D504N	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	504						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TGCACGGCGTCGCCCAGAGTG	0.697													8	27					0	0	0	0	T	145638738	C	T	145638738	3	4	193	1	0	0	0	0	1	0	0	0	14708	884	31	1	445	1	SLC39A4	8	145638738	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	642343	145638738	725284	93	34108											
ACO1	48	broad.mit.edu	37	chr9	32448900	32448900	+	Frame_Shift_Del	DEL	A	A	-																															tctttattcatcagggaatcAaagccgtcctggccgagagc																										TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:32448900delA	ENST00000379923.1	+	21	2583	c.2377delA	c.(2377-2379)aafs	p.K793fs	ACO1_ENST00000309951.5_Frame_Shift_Del_p.K793fs|ACO1_ENST00000541043.1_Frame_Shift_Del_p.K694fs	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	793					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TCAGGGAATCAAAGCCGTCCT	0.468													34	24	---	---	---	---					-	32448900	A	-	32448900	7	5	193	1	0	1	0	1	0	0	0	0	146	131	5	0	2451	0	ACO1	9	32448900	Frame_Shift_Del	DEL	A	TCGA-CR-7365-01A-11D-2012-08		32448900	108764531	94	34109											
DDX58	23586	broad.mit.edu	37	chr9	32493813	32493813	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattcagacagatcagaaatGatatcggttgggataattct	14	12	9	6	1	3	4	2	1	1	3	4	5	3	5	0	2	0	1	0	2	3	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:32493813G>A	ENST00000379882.1	-	2	391	c.234C>T	c.(232-234)atC>atT	p.I78I	DDX58_ENST00000379883.2_Silent_p.I123I|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000542096.1_Silent_p.I52I			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	123	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GATCAGAAATGATATCGGTTG	0.274													26	23					0	0	0	0	A	32493813	G	A	32493813	2	1	193	1	0	0	0	0	0	0	0	1	4407	1280	45	2		2	DDX58	9	32493813	Silent	SNP	G	TCGA-CR-7365-01A-11D-2012-08	44913	32493813	108719618	95	34110											
GRIN3A	116443	broad.mit.edu	37	chr9	104499666	104499666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcgccctggctctgggggAaggcgagcagcgccgacacc	6	6	15	14	4	1	0	0	0	1	0	2	3	1	1	3	4	2	2	3	4	1	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:104499666A>G	ENST00000361820.3	-	1	1196	c.596T>C	c.(595-597)tTc>tCc	p.F199S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	199					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCTCTGGGGGAAGGCGAGCAG	0.587													3	100					0	0	0	0	G	104499666	A	G	104499666	3	3	193	1	0	0	0	0	1	0	0	0	6833	246	9	5	2787	5	GRIN3A	9	104499666	Missense_Mutation	SNP	A	TCGA-CR-7365-01A-11D-2012-08	72005853	104499666	36713765	96	34111											
RALGDS	5900	broad.mit.edu	37	chr9	136030585	136030585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccccacggcaaacaccgtGaccccaatggtcaggttcag	10	7	9	15	2	2	1	2	1	0	0	3	1	3	1	5	3	1	2	5	3	2	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:136030585G>A	ENST00000542690.1	-	6	656	c.376C>T	c.(376-378)Cac>Tac	p.H126Y	GBGT1_ENST00000372040.3_Silent_p.V113V|GBGT1_ENST00000372043.3_Silent_p.V113V|GBGT1_ENST00000540636.1_Silent_p.V96V|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_Missense_Mutation_p.H126Y			Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	0	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|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)		CAAACACCGTGACCCCAATGG	0.587			T	CIITA	"PMBL, Hodgkin Lymphona, "								35	56					0	0	0	0	A	136030585	G	A	136030585	3	1	193	1	0	0	0	0	1	0	0	0	13098	1277	45	2		2	RALGDS	9	136030585	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	31530919	136030585	5182846	97	34112											
NOTCH1	4851	broad.mit.edu	37	chr9	139400138	139400138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggctctcggatgtgggctCacaggtcccctggttgtagc	4	10	16	11	1	2	0	1	0	1	0	4	1	3	1	2	6	1	4	2	6	1	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:139400138C>T	ENST00000277541.6	-	25	4285	c.4210G>A	c.(4210-4212)Gag>Aag	p.E1404K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1404	EGF-like 36.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATGTGGGCTCACAGGTCCCC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			35	49					0	0	0	0	T	139400138	C	T	139400138	3	4	193	1	0	0	0	0	1	0	0	0	10617	835	29	2	3497	2	NOTCH1	9	139400138	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	3369553	139400138	1813293	98	34113											
NOTCH1	4851	broad.mit.edu	37	chr9	139410477	139410477	+	Frame_Shift_Del	DEL	T	T	-																															tgttgggtccgtccaggcacTtggcaccattcttgcagggg																										TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:139410477delT	ENST00000277541.6	-	10	1700	c.1625delA	c.(1624-1626)agfs	p.K542fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	542	EGF-like 14; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCCAGGCACTTGGCACCATT	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			54	17	---	---	---	---					-	139410477	T	-	139410477	7	5	193	1	0	1	0	1	0	0	0	0	10617	1609	56	0	6142	0	NOTCH1	9	139410477	Frame_Shift_Del	DEL	T	TCGA-CR-7365-01A-11D-2012-08	10339	139410477	1802954	99	34114											
ABCA2	20	broad.mit.edu	37	chr9	139910605	139910605	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcggaacccgacgttggaggGaacaggccggtcaggatgga	10	4	18	9	4	1	0	1	0	0	0	1	6	1	5	2	7	2	1	2	7	2	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:139910605G>C	ENST00000265662.5	-	22	3273	c.3126C>G	c.(3124-3126)ttC>ttG	p.F1042L	ABCA2_ENST00000371605.3_Missense_Mutation_p.F1041L|ABCA2_ENST00000341511.6_Missense_Mutation_p.F1042L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1041	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACGTTGGAGGGAACAGGCCGG	0.652													44	63					0	0	0	0	C	139910605	G	C	139910605	3	2	193	1	0	0	0	0	1	0	0	0	32	1165	41	2	4296	2	ABCA2	9	139910605	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	500128	139910605	1302826	100	34115											
USP6NL	9712	broad.mit.edu	37	chr10	11505446	11505446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcagttctctctgtagctGagacgtctgacggtttattc	6	15	11	9	2	3	2	0	2	3	1	5	3	3	2	0	2	1	5	0	2	2	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:11505446G>A	ENST00000379237.1	-	15	1875	c.1481C>T	c.(1480-1482)tCa>tTa	p.S494L	USP6NL_ENST00000277575.5_Missense_Mutation_p.S511L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	494						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CTCTGTAGCTGAGACGTCTGA	0.537													46	206					0	0	0	0	A	11505446	G	A	11505446	3	1	193	1	0	0	0	0	1	0	0	0	17183	1294	45	2	1009	2	USP6NL	10	11505446	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08		11505446	124029301	101	34116											
MYO3A	53904	broad.mit.edu	37	chr10	26409613	26409613	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgtgtttcagcaacttggTagtatatacagcatactcgc	10	13	10	8	1	1	0	1	0	0	0	2	0	1	0	0	2	5	5	0	2	6	7			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:26409613T>C	ENST00000265944.5	+	18	1951	c.1785T>C	c.(1783-1785)ggT>ggC	p.G595G	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	595	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCAACTTGGTAGTATATACA	0.438													12	70					0	0	0	0	C	26409613	T	C	26409613	2	2	193	1	0	0	0	0	0	0	0	1	10146	1625	57	5		5	MYO3A	10	26409613	Silent	SNP	T	TCGA-CR-7365-01A-11D-2012-08	14904167	26409613	109125134	102	34117											
TSPAN14	81619	broad.mit.edu	37	chr10	82269077	82269077	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgtggcaccatcgtgctCatcttcttcctggagctggc	4	14	10	13	1	4	0	1	0	3	0	6	1	5	1	2	3	2	3	2	3	0	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:82269077C>T	ENST00000429989.2	+	5	523	c.300C>T	c.(298-300)ctC>ctT	p.L100L	TSPAN14_ENST00000372164.3_Silent_p.L83L|TSPAN14_ENST00000372156.1_Silent_p.L100L|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000341863.6_Intron|TSPAN14_ENST00000372158.1_Silent_p.L100L	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	100						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CCATCGTGCTCATCTTCTTCC	0.612													23	28					0	0	0	0	T	82269077	C	T	82269077	2	4	193	1	0	0	0	0	0	0	0	1	16733	813	29	2		2	TSPAN14	10	82269077	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	55859464	82269077	53265670	103	34118											
CUEDC2	79004	broad.mit.edu	37	chr10	104184490	104184490	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agttctcctctgatgggcccGaggggcccaggtcctccagg	5	8	14	14	1	2	1	0	1	2	0	5	2	4	1	5	5	0	1	5	5	0	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:104184490G>C	ENST00000369937.4	-	3	279	c.134C>G	c.(133-135)tCg>tGg	p.S45W		NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	45						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGATGGGCCCGAGGGGCCCAG	0.587													30	43					0	0	0	0	C	104184490	G	C	104184490	3	2	193	1	0	0	0	0	1	0	0	0	4085	1059	37	3	757	3	CUEDC2	10	104184490	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	21915413	104184490	31350257	104	34119											
DOCK1	1793	broad.mit.edu	37	chr10	129141970	129141970	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcaagagtccctgcaactgGagaatttttcaagtgccaag	12	10	9	10	0	2	2	2	0	0	2	3	3	3	2	2	1	3	1	2	1	5	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:129141970G>C	ENST00000280333.6	+	31	3230	c.3121G>C	c.(3121-3123)Gag>Cag	p.E1041Q	DOCK1_ENST00000484400.1_3'UTR	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1041					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCTGCAACTGGAGAATTTTTC	0.433													2	7					0	0	0	0	C	129141970	G	C	129141970	3	2	193	1	0	0	0	0	1	0	0	0	4720	1175	41	2	3243	2	DOCK1	10	129141970	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	24957480	129141970	6392777	105	34120											
HBD	3045	broad.mit.edu	37	chr11	5255269	5255269	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtcacagtgcagctcactCagctgagaaaaagtgccctt	11	10	9	11	0	3	1	3	1	0	1	3	2	3	1	1	0	4	3	1	0	2	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:5255269C>G	ENST00000380299.3	-	2	481	c.267G>C	c.(265-267)ctG>ctC	p.L89L	HBD_ENST00000292901.3_Silent_p.L89L	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	89			L -> V (in Lucania; dbSNP:rs34933313).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGCTCACTCAGCTGAGAAA	0.493													30	60					0	0	0	0	G	5255269	C	G	5255269	2	3	193	1	0	0	0	0	0	0	0	1	7029	813	29	2		2	HBD	11	5255269	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08		5255269	129751247	106	34121											
ABCC8	6833	broad.mit.edu	37	chr11	17427072	17427072	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttacagtcagatgaaaatCtgttcaggatgctcccaagg	12	11	10	8	0	3	2	2	1	1	1	4	3	4	3	1	2	2	3	1	2	4	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:17427072C>G	ENST00000302539.4	-	27	3496	c.3371G>C	c.(3370-3372)aGa>aCa	p.R1124T	ABCC8_ENST00000389817.3_Missense_Mutation_p.R1123T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1123	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGATGAAAATCTGTTCAGGAT	0.512													46	101					0	0	0	0	G	17427072	C	G	17427072	3	3	193	1	0	0	0	0	1	0	0	0	58	913	32	2	1429	2	ABCC8	11	17427072	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	12171803	17427072	117579444	107	34122											
USH1C	10083	broad.mit.edu	37	chr11	17531964	17531964	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttacctctgaaatctcAttatcagcagaggaaatctg	12	13	7	9	0	5	2	2	1	4	1	6	3	5	3	1	1	2	2	1	1	4	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:17531964A>C	ENST00000005226.7	-	17	1517	c.1518T>G	c.(1516-1518)aaT>aaG	p.N506K	USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0	PDZ 3.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTGAAATCTCATTATCAGCAG	0.502													10	12					0	0	0	0	C	17531964	A	C	17531964	3	2	193	1	0	0	0	0	1	0	0	0	17130	214	8	5	1225	5	USH1C	11	17531964	Missense_Mutation	SNP	A	TCGA-CR-7365-01A-11D-2012-08	104892	17531964	117474552	108	34123											
SLC6A5	9152	broad.mit.edu	37	chr11	20622705	20622705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccaaggaaatgaataaaCtgccagccaacagcccggag	15	4	9	13	1	0	1	0	1	0	0	1	3	1	3	4	2	5	0	4	2	6	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:20622705C>G	ENST00000525748.1	+	2	307	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	12					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AATGAATAAACTGCCAGCCAA	0.572													6	17					0	0	0	0	G	20622705	C	G	20622705	3	3	193	1	0	0	0	0	1	0	0	0	14775	564	20	4	40	4	SLC6A5	11	20622705	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	3090741	20622705	114383811	109	34124											
OR4S1	256148	broad.mit.edu	37	chr11	48328704	48328704	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcttaggggagaagtgAcattccagagaatctcaatc	14	8	12	7	0	1	3	1	1	1	2	4	6	2	4	1	3	1	1	1	3	4	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:48328704A>G	ENST00000319988.1	+	1	930	c.927_splice	c.e1+1	p.*310_splice		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GGGAGAAGTGACATTCCAGAG	0.428													10	33					0	0	0	0	G	48328704	A	G	48328704	5	3	193	1	0	0	0	0	0	0	1	0	11153	290	10	5	932	5	OR4S1	11	48328704	Splice_Site	SNP	A	TCGA-CR-7365-01A-11D-2012-08	27705999	48328704	86677812	110	34125											
CATSPER1	117144	broad.mit.edu	37	chr11	65793518	65793518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcatggtagtcctcaccGtaggaacggtgggaggggac	9	8	15	9	2	3	0	3	0	0	0	4	3	4	3	2	6	1	2	2	6	3	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:65793518G>A	ENST00000312106.5	-	1	470	c.333C>T	c.(331-333)taC>taT	p.Y111Y		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	111	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGTCCTCACCGTAGGAACGGT	0.597													22	125					0	0	0	0	A	65793518	G	A	65793518	2	1	193	1	0	0	0	0	0	0	0	1	2712	1140	40	1		1	CATSPER1	11	65793518	Silent	SNP	G	TCGA-CR-7365-01A-11D-2012-08	17464814	65793518	69212998	111	34126											
ARAP1	116985	broad.mit.edu	37	chr11	72406446	72406446	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctaccttgatatgctgctCagtctctgccttcttctctt	5	17	5	14	0	4	1	1	1	3	0	6	1	4	1	3	0	4	2	3	0	2	6			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:72406446C>G	ENST00000359373.5	-	26	4413	c.3562G>C	c.(3562-3564)Gag>Cag	p.E1188Q	ARAP1_ENST00000393609.3_Missense_Mutation_p.E1188Q|ARAP1_ENST00000334211.8_Missense_Mutation_p.E943Q|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.E1188Q|ARAP1_ENST00000429686.1_Missense_Mutation_p.E882Q|ARAP1_ENST00000393605.3_Missense_Mutation_p.E948Q|ARAP1_ENST00000426523.1_Missense_Mutation_p.E943Q			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1188	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ATATGCTGCTCAGTCTCTGCC	0.577													14	52					0	0	0	0	G	72406446	C	G	72406446	3	3	193	1	0	0	0	0	1	0	0	0	840	835	29	2	830	2	ARAP1	11	72406446	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	6612928	72406446	62600070	112	34127											
ARAP1	116985	broad.mit.edu	37	chr11	72406880	72406880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgccaggttgtgcacgttCatctggttcgtgtctgagaa	7	14	12	8	2	3	1	1	1	2	1	4	2	3	1	1	2	2	4	1	2	1	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:72406880C>T	ENST00000359373.5	-	24	4154	c.3303G>A	c.(3301-3303)atG>atA	p.M1101I	ARAP1_ENST00000393609.3_Missense_Mutation_p.M1101I|ARAP1_ENST00000334211.8_Missense_Mutation_p.M856I|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.M1101I|ARAP1_ENST00000429686.1_Missense_Mutation_p.M795I|ARAP1_ENST00000393605.3_Missense_Mutation_p.M861I|ARAP1_ENST00000426523.1_Missense_Mutation_p.M856I			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1101	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGTGCACGTTCATCTGGTTCG	0.537													14	23					0	0	0	0	T	72406880	C	T	72406880	3	4	193	1	0	0	0	0	1	0	0	0	840	826	29	2	1097	2	ARAP1	11	72406880	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	434	72406880	62599636	113	34128											
C2CD3	26005	broad.mit.edu	37	chr11	73789689	73789689	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctccagaccacccacgatCttctgcatgagctccaggcc	9	7	8	17	1	2	2	0	1	2	1	4	3	4	2	5	1	3	3	5	1	0	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:73789689C>G	ENST00000334126.7	-	23	4300	c.4074G>C	c.(4072-4074)aaG>aaC	p.K1358N	C2CD3_ENST00000313663.7_Missense_Mutation_p.K1358N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1358						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CACCCACGATCTTCTGCATGA	0.498													41	71					0	0	0	0	G	73789689	C	G	73789689	3	3	193	1	0	0	0	0	1	0	0	0	2174	912	32	2	1853	2	C2CD3	11	73789689	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	1382809	73789689	61216827	114	34129											
CASP1	834	broad.mit.edu	37	chr11	104901918	104901918	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgacttttgtttccatatccTttgagcttcttctagggagc	6	17	8	10	1	2	1	0	1	2	0	4	3	4	2	2	1	2	2	2	1	2	8			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:104901918T>C	ENST00000533400.1	-	4	462	c.427A>G	c.(427-429)Agg>Ggg	p.R143G	CASP1_ENST00000593315.1_Missense_Mutation_p.R122G|CASP1_ENST00000393136.4_Missense_Mutation_p.R122G|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.R143G|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000446369.1_Missense_Mutation_p.R50G|CASP1_ENST00000526568.1_Missense_Mutation_p.R50G|CASP1_ENST00000525825.1_Missense_Mutation_p.R122G|CASP1_ENST00000598974.1_Missense_Mutation_p.R143G|CASP1_ENST00000527979.1_Missense_Mutation_p.R106G|CASP1_ENST00000594519.1_Missense_Mutation_p.R50G|CASP1_ENST00000534497.1_Missense_Mutation_p.R50G|CASP1_ENST00000528974.1_Missense_Mutation_p.R104G|CASP1_ENST00000531166.1_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	143					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TTCCATATCCTTTGAGCTTCT	0.507													16	24					0	0	0	0	C	104901918	T	C	104901918	3	2	193	1	0	0	0	0	1	0	0	0	2693	1608	56	5	811	5	CASP1	11	104901918	Missense_Mutation	SNP	T	TCGA-CR-7365-01A-11D-2012-08	31112229	104901918	30104598	115	34130											
SLC37A4	2542	broad.mit.edu	37	chr11	118895769	118895769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgctgaagggcagccCagccagaaagccgcccactg	11	4	13	13	1	0	2	0	1	0	1	0	2	0	2	4	2	4	2	4	2	3	0			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:118895769C>T	ENST00000545985.1	-	11	1897	c.1141G>A	c.(1141-1143)Ggg>Agg	p.G381R	SLC37A4_ENST00000525102.1_5'UTR|TRAPPC4_ENST00000533058.1_3'UTR|SLC37A4_ENST00000538950.1_Missense_Mutation_p.G308R|SLC37A4_ENST00000330775.7_Missense_Mutation_p.G402R|SLC37A4_ENST00000357590.5_Missense_Mutation_p.G403R	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	381					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AAGGGCAGCCCAGCCAGAAAG	0.582													30	53					0	0	0	0	T	118895769	C	T	118895769	3	4	193	1	0	0	0	0	1	0	0	0	14688	594	21	4	152	4	SLC37A4	11	118895769	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	13993851	118895769	16110747	116	34131											
MFRP	83552	broad.mit.edu	37	chr11	119214569	119214569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagctgctggtctcatacaCctccacgtagtcaaacttgc	9	11	8	13	1	2	1	2	1	1	0	4	1	3	1	2	1	5	3	2	1	3	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:119214569C>A	ENST00000555262.1	-	9	1240	c.1081G>T	c.(1081-1083)Gtg>Ttg	p.V361L	MFRP_ENST00000530681.1_Missense_Mutation_p.V361L|MFRP_ENST00000449574.2_Missense_Mutation_p.V361L|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Intron	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GTCTCATACACCTCCACGTAG	0.582													38	83					4.32679e-17	4.91589e-17	1	0	A	119214569	C	A	119214569	3	1	193	1	0	0	0	0	1	0	0	0	9595	507	18	4	678	4	MFRP	11	119214569	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	318800	119214569	15791947	117	34132											
EI24	9538	broad.mit.edu	37	chr11	125453532	125453532	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcagagaagttcccttCaccgcatccgtcgcctgcca	7	10	8	16	3	2	1	1	0	1	1	5	2	4	1	5	0	2	3	5	0	1	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:125453532C>A	ENST00000278903.6	+	12	1216	c.974C>A	c.(973-975)tCa>tAa	p.S325*	STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000343678.4_3'UTR	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	326					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AAGTTCCCTTCACCGCATCCG	0.552													15	22					1.3612e-06	1.44479e-06	1	0	A	125453532	C	A	125453532	4	1	193	1	0	0	0	0	0	1	0	0	5021	838	29	2	1014	2	EI24	11	125453532	Nonsense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	6238963	125453532	9552984	118	34133											
SLCO1A2	6579	broad.mit.edu	37	chr12	21471722	21471722	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaataattcattaccaatctCaaagcttccattaatgaatc	17	13	2	9	0	2	1	2	1	1	0	5	1	3	1	2	0	2	1	2	0	7	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:21471722C>G	ENST00000307378.6	-	4	916	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E64Q|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E66Q|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000473830.1_5'UTR	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	66					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTACCAATCTCAAAGCTTCCA	0.328													23	61					0	0	0	0	G	21471722	C	G	21471722	3	3	193	1	0	0	0	0	1	0	0	0	14810	835	29	2	1868	2	SLCO1A2	12	21471722	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08		21471722	112380173	119	34134											
IFLTD1	160492	broad.mit.edu	37	chr12	25672833	25672833	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttccacctgataatttgaGatatctttcttaggttgatc	9	18	7	7	0	2	3	0	3	2	1	4	4	3	3	2	1	0	2	2	1	3	7			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:25672833G>C	ENST00000539744.1	-	7	1100	c.621C>G	c.(619-621)atC>atG	p.I207M	IFLTD1_ENST00000445693.1_Missense_Mutation_p.I241M|IFLTD1_ENST00000413632.2_Missense_Mutation_p.I285M|IFLTD1_ENST00000458174.2_Missense_Mutation_p.I325M|IFLTD1_ENST00000282881.6_Missense_Mutation_p.I304M	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	304						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GATAATTTGAGATATCTTTCT	0.373													18	40					0	0	0	0	C	25672833	G	C	25672833	3	2	193	1	0	0	0	0	1	0	0	0	7583	932	33	2	266	2	IFLTD1	12	25672833	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	4201111	25672833	108179062	120	34135											
EIF4B	1975	broad.mit.edu	37	chr12	53410267	53410267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaaaacagcaaaaaagaaGaataagaaggggaagactat	23	6	9	3	0	0	4	0	0	0	4	0	5	0	5	0	2	2	1	0	2	11	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:53410267G>C	ENST00000262056.9	+	2	350	c.24G>C	c.(22-24)aaG>aaC	p.K8N	RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.K8N|EIF4B_ENST00000420463.3_Missense_Mutation_p.K8N|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	8					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CAAAAAAGAAGAATAAGAAGG	0.393													10	29					0	0	0	0	C	53410267	G	C	53410267	3	2	193	1	0	0	0	0	1	0	0	0	5065	933	33	2	30	2	EIF4B	12	53410267	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	27737434	53410267	80441628	121	34136											
TIMELESS	8914	broad.mit.edu	37	chr12	56816656	56816656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccagggagccatagccctCagtcatctctcgaaccacag	11	7	8	15	1	3	0	2	0	1	0	6	2	4	1	4	1	3	0	4	1	2	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:56816656C>T	ENST00000229201.4	-	19	2564	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	TIMELESS_ENST00000553532.1_Missense_Mutation_p.E805K|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	805					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.E805K(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCATAGCCCTCAGTCATCTCT	0.498													38	59					0	0	0	0	T	56816656	C	T	56816656	3	4	193	1	0	0	0	0	1	0	0	0	15998	835	29	2	1257	2	TIMELESS	12	56816656	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	3406389	56816656	77035239	122	34137											
LGR5	8549	broad.mit.edu	37	chr12	71965319	71965319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcttacaacctattagaaGatttacccagtttttcagtc	11	16	5	9	0	2	2	1	0	1	2	3	2	2	2	2	0	3	1	2	0	6	7			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:71965319G>C	ENST00000266674.5	+	12	1407	c.1096G>C	c.(1096-1098)Gat>Cat	p.D366H	LGR5_ENST00000540815.2_Missense_Mutation_p.D342H|LGR5_ENST00000536515.1_Missense_Mutation_p.D294H			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	366						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTATTAGAAGATTTACCCAG	0.338													7	28					0	0	0	0	C	71965319	G	C	71965319	3	2	193	1	0	0	0	0	1	0	0	0	8811	942	33	2	1142	2	LGR5	12	71965319	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	15148663	71965319	61886576	123	34138											
KSR2	283455	broad.mit.edu	37	chr12	118105354	118105354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcccacaaagaaggagcGgagggagcgctcggacagca	12	3	16	10	3	0	1	0	0	0	1	2	5	1	5	1	4	3	2	1	4	2	0			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:118105354G>A	ENST00000425217.1	-	5	1063	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	KSR2_ENST00000302438.5_Missense_Mutation_p.R63C|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.R366C	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	366					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R398C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGAAGGAGCGGAGGGAGCGC	0.602													11	19					0	0	0	0	A	118105354	G	A	118105354	3	1	193	1	0	0	0	0	1	0	0	0	8635	1116	39	1	1820	1	KSR2	12	118105354	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	46140035	118105354	15746541	124	34139											
GCN1L1	10985	broad.mit.edu	37	chr12	120600729	120600729	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaaggcttcaggatcgatCttcatcctggcaagaagtgc	12	10	10	9	1	3	1	2	0	1	1	5	3	4	2	1	3	1	2	1	3	4	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:120600729C>T	ENST00000300648.6	-	20	2097	c.2085G>A	c.(2083-2085)aaG>aaA	p.K695K		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	695					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGATCGATCTTCATCCTGG	0.557													38	74					0	0	0	0	T	120600729	C	T	120600729	2	4	193	1	0	0	0	0	0	0	0	1	6348	912	32	2		2	GCN1L1	12	120600729	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	2495375	120600729	13251166	125	34140											
KNTC1	9735	broad.mit.edu	37	chr12	123061462	123061462	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagtggttagatacattctCaaacaagatgtcccatcttc	13	12	7	9	0	2	3	1	0	2	3	5	3	3	3	1	1	2	1	1	1	4	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:123061462C>G	ENST00000333479.7	+	30	2784	c.2607C>G	c.(2605-2607)ctC>ctG	p.L869L	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	869					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GATACATTCTCAAACAAGATG	0.348													14	21					0	0	0	0	G	123061462	C	G	123061462	2	3	193	1	0	0	0	0	0	0	0	1	8480	813	29	2		2	KNTC1	12	123061462	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	2460733	123061462	10790433	126	34141											
LMO7	4008	broad.mit.edu	37	chr13	76381901	76381901	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgagcaagatgattctgtAgagcgagatataattttaca	14	13	9	5	1	2	5	0	2	2	3	2	6	2	5	0	0	3	2	0	0	5	6			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr13:76381901A>G	ENST00000357063.3	+	11	2898	c.1638A>G	c.(1636-1638)gtA>gtG	p.V546V	LMO7_ENST00000465261.2_Silent_p.V261V|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Silent_p.V546V|LMO7_ENST00000321797.8_Silent_p.V261V			Q8WWI1	LMO7_HUMAN	LIM domain 7	546						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATGATTCTGTAGAGCGAGATA	0.388													30	59					0	0	0	0	G	76381901	A	G	76381901	2	3	193	1	0	0	0	0	0	0	0	1	8910	407	15	5		5	LMO7	13	76381901	Silent	SNP	A	TCGA-CR-7365-01A-11D-2012-08		76381901	38787977	127	34142											
MYH7	4625	broad.mit.edu	37	chr14	23893298	23893298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccttggcctccagctGaatcttgtttttgatcagct	6	16	7	12	0	3	2	2	2	1	0	4	2	4	2	3	1	2	3	3	1	1	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr14:23893298G>T	ENST00000355349.3	-	23	2902	c.2740C>A	c.(2740-2742)Cag>Aag	p.Q914K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	914					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		GCCTCCAGCTGAATCTTGTTT	0.532													28	66					2.44723e-14	2.72917e-14	1	0	T	23893298	G	T	23893298	3	4	193	1	0	0	0	0	1	0	0	0	10109	1299	45	2	3139	2	MYH7	14	23893298	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08		23893298	83456242	128	34143											
FSCB	84075	broad.mit.edu	37	chr14	44975541	44975541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttagtctcctgagtaaatGaagttctgctgatatttttc	9	19	7	6	0	2	3	0	3	2	0	4	3	2	3	1	0	1	3	1	0	5	7			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr14:44975541G>A	ENST00000340446.4	-	1	941	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	217						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGAGTAAATGAAGTTCTGCT	0.393													26	64					0	0	0	0	A	44975541	G	A	44975541	3	1	193	1	0	0	0	0	1	0	0	0	6114	1294	45	2	1831	2	FSCB	14	44975541	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	21082243	44975541	62373999	129	34144											
MTHFD1	4522	broad.mit.edu	37	chr14	64906869	64906879	+	Frame_Shift_Del	DEL	GTGAAATTATG	GTGAAATTATG	-																															gtttgatatctctgtggccaGtgaaattatggctgtcctgg																										TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr14:64906869_64906879delGTGAAATTATG	ENST00000555709.1	+	18	2087_2097	c.1700_1710delGTGAAATTATG	c.(1699-1710)afs	p.SEIM567fs	MTHFD1_ENST00000555252.1_Frame_Shift_Del_p.SEIM547fs|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000545908.1_Frame_Shift_Del_p.SEIM623fs|MTHFD1_ENST00000216605.7_Frame_Shift_Del_p.SEIM623fs	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	567	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TCTGTGGCCAGTGAAATTATGGCTGTCCTGG	0.479													24	38	---	---	---	---					-	64906879	GTGAAATTATG	-	64906869	7	5	193	1	0	1	0	1	0	0	0	0	9997	1029	36	0	1770	0	MTHFD1	14	64906869	Frame_Shift_Del	DEL	GTGAAATTATG	TCGA-CR-7365-01A-11D-2012-08	19931328	64906869	42442671	130	34145											
DYNC1H1	1778	broad.mit.edu	37	chr14	102504835	102504835	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagttttgaacccggtgctGaaccgtgaagtgcggcgaac	9	8	13	11	4	0	3	0	3	0	0	0	4	0	3	3	2	5	2	3	2	4	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr14:102504835G>C	ENST00000360184.4	+	58	11111	c.10947G>C	c.(10945-10947)ctG>ctC	p.L3649L	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3649	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCCGGTGCTGAACCGTGAAG	0.542													7	34					0	0	0	0	C	102504835	G	C	102504835	2	2	193	1	0	0	0	0	0	0	0	1	4877	1277	45	2		2	DYNC1H1	14	102504835	Silent	SNP	G	TCGA-CR-7365-01A-11D-2012-08	37597966	102504835	4844705	131	34146											
EPB42	2038	broad.mit.edu	37	chr15	43508574	43508574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcctcacaaagaggcGccgggagctgagggccttgg	7	5	14	15	2	1	2	1	1	0	1	2	3	2	3	5	4	1	1	5	4	1	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:43508574G>A	ENST00000300215.3	-	2	635	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	EPB42_ENST00000540029.1_Missense_Mutation_p.R30C|EPB42_ENST00000441366.2_Missense_Mutation_p.R30C			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	30					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACAAAGAGGCGCCGGGAGCTG	0.582													27	50					0	0	0	0	A	43508574	G	A	43508574	3	1	193	1	0	0	0	0	1	0	0	0	5196	1087	38	1	2035	1	EPB42	15	43508574	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08		43508574	59022818	132	34147											
CATSPER2	117155	broad.mit.edu	37	chr15	43924464	43924464	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctagcaactcaaaataTcggaagagtgagtctctggg	12	12	10	7	1	3	2	1	1	2	1	5	3	3	3	0	2	2	1	0	2	6	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:43924464T>C	ENST00000396879.1	-	13	1600	c.1488A>G	c.(1486-1488)cgA>cgG	p.R496R	CATSPER2_ENST00000381761.1_Silent_p.R502R|CATSPER2_ENST00000321596.5_Silent_p.R498R|CATSPER2_ENST00000355438.2_3'UTR|CATSPER2_ENST00000354127.4_Silent_p.R496R|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	498					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACTCAAAATATCGGAAGAGTG	0.483													21	53					0	0	0	0	C	43924464	T	C	43924464	2	2	193	1	0	0	0	0	0	0	0	1	2713	1422	50	5		5	CATSPER2	15	43924464	Silent	SNP	T	TCGA-CR-7365-01A-11D-2012-08	415890	43924464	58606928	133	34148											
SHC4	399694	broad.mit.edu	37	chr15	49126974	49126974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcaatgataccttgccttCaggatccaccaggagaagat	13	9	9	10	0	2	3	2	1	0	2	3	5	3	4	4	2	2	0	4	2	3	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:49126974C>T	ENST00000332408.4	-	11	2157	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	SHC4_ENST00000396535.3_Missense_Mutation_p.E334K|SHC4_ENST00000537958.1_Missense_Mutation_p.E291K	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	577	SH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ACCTTGCCTTCAGGATCCACC	0.453													33	85					0	0	0	0	T	49126974	C	T	49126974	3	4	193	1	0	0	0	0	1	0	0	0	14361	835	29	2	171	2	SHC4	15	49126974	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	5202510	49126974	53404418	134	34149											
LACTB	114294	broad.mit.edu	37	chr15	63419597	63419597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcccatttaagtggaattCgtcattatgaaaaggacata	14	14	7	6	1	1	1	1	1	0	0	3	3	2	3	1	2	0	0	1	2	6	6			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:63419597C>T	ENST00000413507.2	+	4	700	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	LACTB_ENST00000261893.4_Missense_Mutation_p.R221C|RPS27L_ENST00000559763.1_Intron	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN	lactamase, beta	221						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						AAGTGGAATTCGTCATTATGA	0.299													34	85					0	0	0	0	T	63419597	C	T	63419597	3	4	193	1	0	0	0	0	1	0	0	0	8650	884	31	1	675	1	LACTB	15	63419597	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	14292623	63419597	39111795	135	34150											
CSPG4	1464	broad.mit.edu	37	chr15	75982360	75982360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatgcagcccagcagggagGcattggtggcctctggtgtc	6	8	15	12	0	1	0	0	0	1	0	2	1	1	1	3	5	3	3	3	5	0	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:75982360G>A	ENST00000308508.5	-	3	1138	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	349	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGCAGGGAGGCATTGGTGGC	0.667													3	30					0	0	0	0	A	75982360	G	A	75982360	3	1	193	1	0	0	0	0	1	0	0	0	3992	1203	42	4	5954	4	CSPG4	15	75982360	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	12562763	75982360	26549032	136	34151											
CSPG4	1464	broad.mit.edu	37	chr15	75982391	75982391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctggtgtcaggcccaggcGgtgttcctggaggtgacgag	5	9	17	10	2	2	1	1	1	1	0	3	3	3	2	2	6	0	1	2	6	0	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:75982391G>A	ENST00000308508.5	-	3	1107	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	339	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGGCCCAGGCGGTGTTCCTGG	0.642													5	37					0	0	0	0	A	75982391	G	A	75982391	3	1	193	1	0	0	0	0	1	0	0	0	3992	1116	39	1	5985	1	CSPG4	15	75982391	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	31	75982391	26549001	137	34152											
C15orf27	123591	broad.mit.edu	37	chr15	76426621	76426621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccatggctgtggctccatCtttcaacatgaccaatccac	10	10	6	15	0	2	1	1	1	1	0	4	1	4	1	4	2	1	2	4	2	2	1	rs114291110	by1000genomes	TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:76426621C>G	ENST00000388942.3	+	2	293	c.17C>G	c.(16-18)tCt>tGt	p.S6C		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	6						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GTGGCTCCATCTTTCAACATG	0.463													26	38					0	0	0	0	G	76426621	C	G	76426621	3	3	193	1	0	0	0	0	1	0	0	0	1800	913	32	2	19	2	C15orf27	15	76426621	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	444230	76426621	26104771	138	34153											
IL16	3603	broad.mit.edu	37	chr15	81565513	81565513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaaaccatttttgcaggggGagcagcagcagccgatggaa	13	6	13	9	1	0	0	0	0	0	0	0	3	0	2	2	3	6	4	2	3	3	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:81565513G>T	ENST00000394660.2	+	6	1118	c.758G>T	c.(757-759)gGa>gTa	p.G253V	IL16_ENST00000302987.4_Missense_Mutation_p.G253V	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	253	Interaction with GRIN2A.|PDZ 1.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TTTGCAGGGGGAGCAGCAGCA	0.522													18	42					6.49762e-13	7.14738e-13	1	0	T	81565513	G	T	81565513	3	4	193	1	0	0	0	0	1	0	0	0	7686	1174	41	2	776	2	IL16	15	81565513	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	5138892	81565513	20965879	139	34154											
IFT140	9742	broad.mit.edu	37	chr16	1573848	1573848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtggtacagcatgaccGccctgtccatctgcacgccc	6	9	9	17	2	1	1	0	1	1	0	2	1	2	1	5	1	3	3	5	1	1	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:1573848G>A	ENST00000426508.2	-	25	3614	c.3251C>T	c.(3250-3252)gCg>gTg	p.A1084V	IFT140_ENST00000361339.5_Missense_Mutation_p.A278V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1084								p.A1084E(1)|p.A1084V(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGCATGACCGCCCTGTCCAT	0.672													13	38					0	0	0	0	A	1573848	G	A	1573848	3	1	193	1	0	0	0	0	1	0	0	0	7609	1087	38	1	1165	1	IFT140	16	1573848	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08		1573848	88780905	140	34155											
TNRC6A	27327	broad.mit.edu	37	chr16	24802886	24802887	+	Frame_Shift_Ins	INS	-	-	T																															aggctggctggggggacctaINStaccagccccagcaaaagaa																										TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:24802886_24802887insT	ENST00000395799.3	+	6	3052_3053	c.2923_2924insT	c.(2923-2925)accfs	p.T975fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.T975fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	975	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGGGGGACCTATACCAGCCCCA	0.525													27	47	---	---	---	---					T	24802887	-	T	24802886	7	5	193	1	0	1	1	0	0	0	0	0	16434	449	16	0	2945	0	TNRC6A	16	24802886	Frame_Shift_Ins	INS	-	TCGA-CR-7365-01A-11D-2012-08	23229038	24802886	65551867	141	34156											
CORO1A	11151	broad.mit.edu	37	chr16	30199820	30199820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacgtacccccaaagagcCgggagctgagggtcaaccgg	10	4	14	13	3	1	2	1	1	0	1	1	3	1	3	4	3	5	3	4	3	4	2	rs150186033	byFrequency	TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:30199820C>T	ENST00000219150.5	+	10	1509	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	CORO1A_ENST00000565497.1_Intron|CORO1A_ENST00000570045.1_Missense_Mutation_p.R402W	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	402					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CCCAAAGAGCCGGGAGCTGAG	0.701													20	29					0	0	0	0	T	30199820	C	T	30199820	3	4	193	1	0	0	0	0	1	0	0	0	3783	643	23	1	1238	1	CORO1A	16	30199820	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	5396934	30199820	60154933	142	34157											
BBS2	583	broad.mit.edu	37	chr16	56539947	56539947	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctcatggcatgatttttcGactgaaaaagaattttaata	14	15	7	5	1	1	3	1	2	0	1	2	4	1	3	0	1	1	2	0	1	5	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:56539947G>A	ENST00000245157.5	-	7	1139	c.717_splice	c.e7-1	p.S240_splice	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Splice_Site_p.S240_splice	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	240					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						ATGATTTTTCGACTGAAAAAG	0.343									Bardet-Biedl syndrome				10	24					0	0	0	0	A	56539947	G	A	56539947	5	1	193	1	0	0	0	0	0	0	1	0	1342	1072	37	1	1490	1	BBS2	16	56539947	Splice_Site	SNP	G	TCGA-CR-7365-01A-11D-2012-08	26340127	56539947	33814806	143	34158											
CIRH1A	84916	broad.mit.edu	37	chr16	69199456	69199456	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcactgctacctcccaaAtcttcttctgaatcttaaag	10	15	3	13	0	6	1	1	1	5	0	7	1	7	1	2	0	2	1	2	0	5	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:69199456A>G	ENST00000563094.1	+	15	1894	c.1860A>G	c.(1858-1860)aaA>aaG	p.K620K	CIRH1A_ENST00000352319.4_Intron|CIRH1A_ENST00000314423.7_Intron			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	0						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TACCTCCCAAATCTTCTTCTG	0.403													14	24					0	0	0	0	G	69199456	A	G	69199456	2	3	193	1	0	0	0	0	0	0	0	1	3463	116	4	5		5	CIRH1A	16	69199456	Silent	SNP	A	TCGA-CR-7365-01A-11D-2012-08	12659509	69199456	21155297	144	34159											
PKD1L2	114780	broad.mit.edu	37	chr16	81219116	81219116	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgactcgaggcctgagttCccagggcgcagacacgtaga	9	6	13	13	3	0	4	0	2	0	2	2	5	1	4	3	2	0	3	3	2	1	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:81219116C>A	ENST00000599697.1	-	11	1977	c.1978G>T	c.(1978-1980)Gaa>Taa	p.E660*	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	660	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGCCTGAGTTCCCAGGGCGCA	0.632													9	23					0.000274275	0.000283652	1	0	A	81219116	C	A	81219116	4	1	193	1	0	0	0	0	0	1	0	0	12037	864	30	2	5602	2	PKD1L2	16	81219116	Nonsense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	12019660	81219116	9135637	145	34160											
ZZEF1	23140	broad.mit.edu	37	chr17	3981229	3981229	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctccagagtccgtgctcttCagctgcaggtagcaccagga	8	8	12	13	1	2	1	1	0	1	1	4	2	4	2	3	2	4	6	3	2	1	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:3981229C>T	ENST00000381638.2	-	19	3061	c.2937G>A	c.(2935-2937)ctG>ctA	p.L979L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	979							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CCGTGCTCTTCAGCTGCAGGT	0.512													24	46					0	0	0	0	T	3981229	C	T	3981229	2	4	193	1	0	0	0	0	0	0	0	1	18346	813	29	2		2	ZZEF1	17	3981229	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08		3981229	77213981	146	34161											
TP53	7157	broad.mit.edu	37	chr17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcatagggcaccaccaCactatgtcgaaaagtgtttc	11	9	9	12	2	1	0	1	0	0	0	3	1	1	0	2	2	0	3	2	2	4	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:7578203C>T	ENST00000420246.2	-	6	778	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000269305.4_Missense_Mutation_p.V216M|TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACCACCACACTATGTCGA	0.537		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	10					0	0	0	0	T	7578203	C	T	7578203	3	4	193	1	0	0	0	0	1	0	0	0	16476	478	17	4	648	4	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	3596974	7578203	73617007	147	34162											
FLII	2314	broad.mit.edu	37	chr17	18151261	18151261	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagccgcattcttggcatCagctccaccttgggacgctg	7	9	10	15	2	2	0	1	0	1	0	3	1	3	1	4	2	2	4	4	2	0	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:18151261C>T	ENST00000327031.4	-	19	2502	c.2277G>A	c.(2275-2277)ctG>ctA	p.L759L	FLII_ENST00000379450.4_Silent_p.L673L|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Silent_p.L704L|FLII_ENST00000579294.1_Silent_p.L748L	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	759	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TTCTTGGCATCAGCTCCACCT	0.617													32	73					0	0	0	0	T	18151261	C	T	18151261	2	4	193	1	0	0	0	0	0	0	0	1	5970	813	29	2		2	FLII	17	18151261	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	10573058	18151261	63043949	148	34163											
SOCS7	30837	broad.mit.edu	37	chr17	36552194	36552194	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcagctcatttccaaacaGaagcaagaggtggaaccctc	13	6	10	12	1	1	2	1	0	0	2	3	3	2	3	2	2	4	3	2	2	4	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:36552194G>A	ENST00000577233.1	+	9	1719	c.1719G>A	c.(1717-1719)caG>caA	p.Q573Q	SOCS7_ENST00000331159.5_Silent_p.Q539Q	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	573					intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					TTTCCAAACAGAAGCAAGAGG	0.512													18	31					0	0	0	0	A	36552194	G	A	36552194	2	1	193	1	0	0	0	0	0	0	0	1	15007	933	33	2		2	SOCS7	17	36552194	Silent	SNP	G	TCGA-CR-7365-01A-11D-2012-08	18400933	36552194	44643016	149	34164											
MLLT6	4302	broad.mit.edu	37	chr17	36869265	36869265	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtttggggtgctgtctGccagatactcccatctgcct	5	12	13	11	0	2	1	0	0	2	1	3	2	3	2	3	3	4	2	3	3	1	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:36869265G>T	ENST00000378137.5	+	9	970	c.879G>T	c.(877-879)ctG>ctT	p.L293L	MLLT6_ENST00000325718.7_Intron			P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	622					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGTGCTGTCTGCCAGATACTC	0.602			T	MLL	AL								19	65					3.32936e-07	3.54936e-07	1	0	T	36869265	G	T	36869265	2	4	193	1	0	0	0	0	0	0	0	1	9699	1334	46	4		4	MLLT6	17	36869265	Silent	SNP	G	TCGA-CR-7365-01A-11D-2012-08	317071	36869265	44325945	150	34165											
MLLT6	4302	broad.mit.edu	37	chr17	36872785	36872785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagcagaaggtggtcttctCtggctttgggcccatcatgc	6	12	13	10	0	3	2	1	1	2	1	4	2	3	2	1	4	2	2	1	4	1	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:36872785C>T	ENST00000325718.7	+	10	1293	c.1202C>T	c.(1201-1203)tCt>tTt	p.S401F	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	401					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GTGGTCTTCTCTGGCTTTGGG	0.657			T	MLL	AL								30	42					0	0	0	0	T	36872785	C	T	36872785	3	4	193	1	0	0	0	0	1	0	0	0	9699	913	32	2	1240	2	MLLT6	17	36872785	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	3520	36872785	44322425	151	34166											
PGAP3	93210	broad.mit.edu	37	chr17	37840929	37840929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcagagcatcaccaggCtggccaggccattgagaaac	12	4	13	12	1	1	2	1	1	0	2	1	3	1	2	3	4	3	3	3	4	1	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:37840929C>T	ENST00000300658.4	-	3	445	c.353G>A	c.(352-354)aGc>aAc	p.S118N	PGAP3_ENST00000429199.2_Missense_Mutation_p.S118N|PGAP3_ENST00000378011.4_Intron|PGAP3_ENST00000579146.1_Missense_Mutation_p.S118N	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	118					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CATCACCAGGCTGGCCAGGCC	0.602													18	26					0	0	0	0	T	37840929	C	T	37840929	3	4	193	1	0	0	0	0	1	0	0	0	11851	797	28	4	633	4	PGAP3	17	37840929	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	968144	37840929	43354281	152	34167											
NKIRAS2	28511	broad.mit.edu	37	chr17	40174467	40174467	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacgtgggctccattgagAcagaccggggggtgcgagag	8	7	17	9	3	1	3	0	1	1	3	2	5	2	3	2	4	2	1	2	4	1	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:40174467A>G	ENST00000307641.5	+	3	766	c.145A>G	c.(145-147)Aca>Gca	p.T49A	NKIRAS2_ENST00000479407.1_Missense_Mutation_p.T49A|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.T49A|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.T49A|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.T47A|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.T49A|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.T49A|NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.T49A	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	49	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CTCCATTGAGACAGACCGGGG	0.557													27	42					0	0	0	0	G	40174467	A	G	40174467	3	3	193	1	0	0	0	0	1	0	0	0	10515	275	10	5	151	5	NKIRAS2	17	40174467	Missense_Mutation	SNP	A	TCGA-CR-7365-01A-11D-2012-08	2333538	40174467	41020743	153	34168											
GPATCH8	23131	broad.mit.edu	37	chr17	42483420	42483420	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttcagatcttttaatctCtgggttaaaagaaagaaaga	15	13	8	5	0	3	4	1	0	2	4	4	4	3	4	0	1	1	2	0	1	5	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:42483420C>G	ENST00000434000.1	-	8	541		c.e8-1		GPATCH8_ENST00000591680.1_Splice_Site			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8							intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTTTAATCTCTGGGTTAAAA	0.433													18	29					0	0	0	0	G	42483420	C	G	42483420	5	3	193	1	0	0	0	0	0	0	1	0	6643	927	32	2	4024	2	GPATCH8	17	42483420	Splice_Site	SNP	C	TCGA-CR-7365-01A-11D-2012-08	2308953	42483420	38711790	154	34169											
AKAP1	8165	broad.mit.edu	37	chr17	55182885	55182885	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggatgctggcgctcctCggctggtggtggtttttctc	1	14	15	11	2	1	0	0	0	1	0	4	1	2	1	2	6	1	4	2	6	0	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:55182885C>A	ENST00000337714.3	+	2	293	c.60C>A	c.(58-60)ctC>ctA	p.L20L	AKAP1_ENST00000539273.1_Silent_p.L20L|AKAP1_ENST00000572557.1_Silent_p.L20L|AKAP1_ENST00000571629.1_Silent_p.L20L|AKAP1_ENST00000314126.3_Silent_p.L20L	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	20					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	p.L20L(1)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TGGCGCTCCTCGGCTGGTGGT	0.577													22	32					1.87028e-06	1.97646e-06	1	0	A	55182885	C	A	55182885	2	1	193	1	0	0	0	0	0	0	0	1	445	871	31	3		3	AKAP1	17	55182885	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	12699465	55182885	26012325	155	34170											
MED13	9969	broad.mit.edu	37	chr17	60042437	60042437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaatcccagctgtctgtaGagctgatgtctgttgccctc	8	12	10	11	0	2	3	0	1	2	2	4	3	3	3	2	0	3	4	2	0	2	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:60042437G>C	ENST00000397786.2	-	20	4850	c.4774C>G	c.(4774-4776)Cta>Gta	p.L1592V		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1592					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCTGTCTGTAGAGCTGATGTC	0.453													12	41					0	0	0	0	C	60042437	G	C	60042437	3	2	193	1	0	0	0	0	1	0	0	0	9499	933	33	2	1794	2	MED13	17	60042437	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	4859552	60042437	21152773	156	34171											
DNAI2	64446	broad.mit.edu	37	chr17	72308173	72308173	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagacccggcgagagaagaTcctggaggccaggcaccggg	10	3	17	11	3	0	3	0	1	0	3	1	7	1	4	4	5	0	1	4	5	1	0			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:72308173T>A	ENST00000579490.1	+	11	1832	c.1697T>A	c.(1696-1698)aTc>aAc	p.I566N	DNAI2_ENST00000307504.5_Missense_Mutation_p.I366N|DNAI2_ENST00000446837.2_Missense_Mutation_p.I509N|DNAI2_ENST00000311014.6_Missense_Mutation_p.I509N|DNAI2_ENST00000582036.1_Missense_Mutation_p.I497N			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	509					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGAGAGAAGATCCTGGAGGCC	0.652									Kartagener syndrome				14	21					0	0	0	0	A	72308173	T	A	72308173	3	1	193	1	0	0	0	0	1	0	0	0	4646	1435	50	5	1568	5	DNAI2	17	72308173	Missense_Mutation	SNP	T	TCGA-CR-7365-01A-11D-2012-08	12265736	72308173	8887037	157	34172											
CDR2L	30850	broad.mit.edu	37	chr17	72997458	72997458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaaccaagcagctggacaCgctgcggcacgtgaacgagc	11	4	12	14	4	0	1	0	1	0	0	0	3	0	2	2	2	6	4	2	2	3	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:72997458C>T	ENST00000337231.5	+	3	627	c.215C>T	c.(214-216)aCg>aTg	p.T72M		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	72												all_lung(278;0.226)					CAGCTGGACACGCTGCGGCAC	0.562													6	21					0	0	0	0	T	72997458	C	T	72997458	3	4	193	1	0	0	0	0	1	0	0	0	3202	536	19	1	225	1	CDR2L	17	72997458	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	689285	72997458	8197752	158	34173											
SMAD4	4089	broad.mit.edu	37	chr18	48584552	48584552	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggactgttgcagatagcatCagggcctcagccaggacagc	11	6	13	11	0	2	1	2	0	0	1	2	3	2	3	2	3	4	3	2	3	1	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr18:48584552C>G	ENST00000342988.3	+	6	1263	c.725C>G	c.(724-726)tCa>tGa	p.S242*	SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S242*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	242					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.S242*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CAGATAGCATCAGGGCCTCAG	0.433													21	14					0	0	0	0	G	48584552	C	G	48584552	4	3	193	1	0	0	0	0	0	1	0	0	14848	838	29	2	743	2	SMAD4	18	48584552	Nonsense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08		48584552	29492696	159	34174											
APBA3	9546	broad.mit.edu	37	chr19	3759797	3759797	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgctcagcagaggccccctCcacccattctggggagtcag	7	7	11	16	0	3	1	2	0	1	1	4	2	4	2	4	3	2	2	4	3	0	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:3759797C>G	ENST00000316757.3	-	2	666	c.466G>C	c.(466-468)Gag>Cag	p.E156Q		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	156					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCCCCCTCCACCCATTCT	0.642													10	33					0	0	0	0	G	3759797	C	G	3759797	3	3	193	1	0	0	0	0	1	0	0	0	759	864	30	2	1301	2	APBA3	19	3759797	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08		3759797	55369186	160	34175											
LDLR	3949	broad.mit.edu	37	chr19	11242105	11242105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgccagagctttgttttatAtatttattcatctgggaggc	8	17	9	7	0	2	1	1	0	1	1	2	2	2	2	1	2	2	2	1	2	4	8			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:11242105A>G	ENST00000557933.1	+	18	2845	c.2758A>G	c.(2758-2760)Ata>Gta	p.I920V	LDLR_ENST00000455727.2_3'UTR|LDLR_ENST00000558518.1_3'UTR|LDLR_ENST00000558013.1_3'UTR|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000545707.1_3'UTR|LDLR_ENST00000535915.1_3'UTR			P01130	LDLR_HUMAN	low density lipoprotein receptor	0					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TTTGTTTTATATATTTATTCA	0.488											OREG0025249	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	15					0	0	0	0	G	11242105	A	G	11242105	3	3	193	1	0	0	0	0	1	0	0	0	8757	464	16	5		5	LDLR	19	11242105	Missense_Mutation	SNP	A	TCGA-CR-7365-01A-11D-2012-08	7482308	11242105	47886878	161	34176											
ZNF254	9534	broad.mit.edu	37	chr19	24309211	24309211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagtataaggtgaacaaaGaaggttataatggacttaac	18	10	10	3	0	0	3	0	2	0	1	0	4	0	4	0	3	2	2	0	3	8	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:24309211G>A	ENST00000357002.4	+	4	524	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	ZNF254_ENST00000342944.6_Missense_Mutation_p.E52K	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	137					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGTGAACAAAGAAGGTTATAA	0.299													23	34					0	0	0	0	A	24309211	G	A	24309211	3	1	193	1	0	0	0	0	1	0	0	0	17893	943	33	2	423	2	ZNF254	19	24309211	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	13067106	24309211	34819772	162	34177											
MAG	4099	broad.mit.edu	37	chr19	35790470	35790470	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtatagacacccccaacatCgtggtgcccccagaggtggt	9	7	11	14	2	0	2	0	0	0	2	1	2	0	2	4	3	2	1	4	3	3	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:35790470C>T	ENST00000361922.4	+	5	579	c.429C>T	c.(427-429)atC>atT	p.I143I	MAG_ENST00000392213.3_Silent_p.I143I|MAG_ENST00000537831.2_Silent_p.I118I|MAG_ENST00000597035.1_3'UTR	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	143	Ig-like C2-type 1.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCCCAACATCGTGGTGCCCC	0.672													3	19					0	0	0	0	T	35790470	C	T	35790470	2	4	193	1	0	0	0	0	0	0	0	1	9227	874	31	1		1	MAG	19	35790470	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	11481259	35790470	23338513	163	34178											
HSD17B14	51171	broad.mit.edu	37	chr19	49316972	49316972	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggccaaagctttggtcaTggctgttactgccccctgca	7	10	11	13	0	1	0	1	0	0	0	1	0	1	0	3	3	4	4	3	3	2	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:49316972T>C	ENST00000263278.4	-	7	756	c.490A>G	c.(490-492)Atg>Gtg	p.M164V	HSD17B14_ENST00000599157.1_Missense_Mutation_p.M140V	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	164					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GCTTTGGTCATGGCTGTTACT	0.612													41	58					0	0	0	0	C	49316972	T	C	49316972	3	2	193	1	0	0	0	0	1	0	0	0	7433	1464	51	5	334	5	HSD17B14	19	49316972	Missense_Mutation	SNP	T	TCGA-CR-7365-01A-11D-2012-08	13526502	49316972	9812011	164	34179											
CPT1C	126129	broad.mit.edu	37	chr19	50204760	50204760	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttctcccctttagtacctgGagtcggtccggcccatcctc	4	12	8	17	2	1	0	0	0	1	0	6	1	3	1	6	3	1	1	6	3	2	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:50204760G>C	ENST00000392518.4	+	7	934	c.562G>C	c.(562-564)Gag>Cag	p.E188Q	CPT1C_ENST00000598293.1_Missense_Mutation_p.E188Q|CPT1C_ENST00000405931.2_Missense_Mutation_p.E188Q|CPT1C_ENST00000354199.5_Missense_Mutation_p.E188Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.E188Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	188					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTAGTACCTGGAGTCGGTCCG	0.706													14	32					0	0	0	0	C	50204760	G	C	50204760	3	2	193	1	0	0	0	0	1	0	0	0	3863	1175	41	2	580	2	CPT1C	19	50204760	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	887788	50204760	8924223	165	34180											
PTOV1	53635	broad.mit.edu	37	chr19	50361359	50361359	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacatgcagctcatcccGcagcagctgctggtgagggg	7	8	14	12	1	1	1	1	1	0	0	2	1	2	1	1	3	6	7	1	3	1	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:50361359G>A	ENST00000391842.1	+	9	1094	c.924G>A	c.(922-924)ccG>ccA	p.P308P	PTOV1_ENST00000221557.9_Silent_p.P276P|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000600603.1_Silent_p.P276P|PTOV1_ENST00000601638.1_Silent_p.P276P|PTOV1_ENST00000601675.1_Silent_p.P308P|PTOV1_ENST00000599732.1_Silent_p.P308P	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	308	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AGCTCATCCCGCAGCAGCTGC	0.687													12	30					0	0	0	0	A	50361359	G	A	50361359	2	1	193	1	0	0	0	0	0	0	0	1	12849	1074	38	1		1	PTOV1	19	50361359	Silent	SNP	G	TCGA-CR-7365-01A-11D-2012-08	156599	50361359	8767624	166	34181											
PNKP	11284	broad.mit.edu	37	chr19	50368399	50368399	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaccttgccctggggtttCaccccagctgcggtgaacac	6	9	10	16	1	2	1	2	1	0	0	2	1	2	1	4	3	4	2	4	3	1	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:50368399C>T	ENST00000322344.3	-	4	592	c.483G>A	c.(481-483)gtG>gtA	p.V161V	PNKP_ENST00000596014.1_Silent_p.V161V|PNKP_ENST00000600910.1_Silent_p.V161V|PNKP_ENST00000600573.1_Silent_p.V161V	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	161					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCTGGGGTTTCACCCCAGCTG	0.582								Other BER factors					5	21					0	0	0	0	T	50368399	C	T	50368399	2	4	193	1	0	0	0	0	0	0	0	1	12219	813	29	2		2	PNKP	19	50368399	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	7040	50368399	8760584	167	34182											
SYT5	6861	broad.mit.edu	37	chr19	55690416	55690416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctccgggaacatggtggcGgggtcctggagtcttttctg	4	11	17	9	2	2	0	0	0	2	0	4	2	4	2	2	7	1	1	2	7	1	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:55690416G>A	ENST00000590851.1	-	1	342	c.158C>T	c.(157-159)cCg>cTg	p.P53L	SYT5_ENST00000537500.1_5'UTR|SYT5_ENST00000354308.3_5'UTR			O00445	SYT5_HUMAN	synaptotagmin V	0					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACATGGTGGCGGGGTCCTGGA	0.642													8	15					0	0	0	0	A	55690416	G	A	55690416	3	1	193	1	0	0	0	0	1	0	0	0	15568	1131	39	1		1	SYT5	19	55690416	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	5322017	55690416	3438567	168	34183											
ZFP28	140612	broad.mit.edu	37	chr19	57061542	57061542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagaacaacagtgacctggGatcagcaggtaaggatgtcc	13	6	14	8	0	1	2	1	1	0	1	2	5	2	4	2	4	3	2	2	4	3	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:57061542G>T	ENST00000301318.3	+	6	865	c.794G>T	c.(793-795)gGa>gTa	p.G265V	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.G265V	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	265	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGTGACCTGGGATCAGCAGGT	0.478													5	9					3.59834e-05	3.78608e-05	1	0	T	57061542	G	T	57061542	3	4	193	1	0	0	0	0	1	0	0	0	17737	1174	41	2	816	2	ZFP28	19	57061542	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	1371126	57061542	2067441	169	34184											
ZNF835	90485	broad.mit.edu	37	chr19	57174961	57174961	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccctcagctcttaatcttCtgctggtccacgcgggtttc	4	13	10	14	2	4	0	1	0	3	0	6	0	5	0	2	3	2	3	2	3	1	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:57174961C>G	ENST00000537055.2	-	2	1837	c.1606G>C	c.(1606-1608)Gaa>Caa	p.E536Q		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TCTTAATCTTCTGCTGGTCCA	0.577													27	31					0	0	0	0	G	57174961	C	G	57174961	3	3	193	1	0	0	0	0	1	0	0	0	18279	922	32	2	9	2	ZNF835	19	57174961	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	113419	57174961	1954022	170	34185											
ZIK1	284307	broad.mit.edu	37	chr19	58102361	58102361	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagtcaaaaagctaccctCattaaacaccagagagttca	16	10	5	10	0	3	1	3	0	0	1	3	2	3	1	2	0	3	2	2	0	6	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:58102361C>A	ENST00000597850.1	+	4	1397	c.1182C>A	c.(1180-1182)ctC>ctA	p.L394L	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Silent_p.L381L|ZIK1_ENST00000599456.1_Silent_p.L339L	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAGCTACCCTCATTAAACACC	0.438													26	43					1.85244e-09	2.0013e-09	1	0	A	58102361	C	A	58102361	2	1	193	1	0	0	0	0	0	0	0	1	17778	813	29	2		2	ZIK1	19	58102361	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08	927400	58102361	1026622	171	34186											
A1BG	1	broad.mit.edu	37	chr19	58863922	58863922	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagggagcaggcaaggactCtgtgggtggggtggagttga	8	7	20	6	0	1	1	0	1	1	0	1	4	1	4	1	7	1	3	1	7	1	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:58863922C>T	ENST00000263100.3	-	4	402		c.e4-1		A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein							extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GGCAAGGACTCTGTGGGTGGG	0.602													16	115					0	0	0	0	T	58863922	C	T	58863922	5	4	193	1	0	0	0	0	0	0	1	0	1	927	32	2	1167	2	A1BG	19	58863922	Splice_Site	SNP	C	TCGA-CR-7365-01A-11D-2012-08	761561	58863922	265061	172	34187											
RALGAPA2	57186	broad.mit.edu	37	chr20	20621406	20621407	+	Frame_Shift_Ins	INS	-	-	A																															tgcaagggcccctggatgacINSatgactgctgggaaaccagg																										TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:20621406_20621407insA	ENST00000202677.6	-	6	630_631	c.488_489insT	c.(487-489)atcfs	p.I163fs		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	163					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CCCTGGATGACATGACTGCTGG	0.485													22	84	---	---	---	---					A	20621407	-	A	20621406	7	5	193	1	0	1	1	0	0	0	0	0	13096	478	17	0	5268	0	RALGAPA2	20	20621406	Frame_Shift_Ins	INS	-	TCGA-CR-7365-01A-11D-2012-08		20621406	42404114	173	34188											
CBFA2T2	9139	broad.mit.edu	37	chr20	32232451	32232451	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcgacaccaacggactctGagccccggactctgcttacc	9	8	8	16	3	2	1	0	1	2	0	3	4	2	3	4	2	4	1	4	2	3	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:32232451G>A	ENST00000346541.3	+	12	2351	c.1814G>A	c.(1813-1815)tGa>tAa	p.*605*	CBFA2T2_ENST00000397800.1_Silent_p.*576*|CBFA2T2_ENST00000543126.1_Silent_p.*153*|CBFA2T2_ENST00000375279.2_Silent_p.*605*|CBFA2T2_ENST00000342704.5_Silent_p.*596*|CBFA2T2_ENST00000359606.3_Silent_p.*615*	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	0						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AACGGACTCTGAGCCCCGGAC	0.607													33	99					0	0	0	0	A	32232451	G	A	32232451	2	1	193	1	0	0	0	0	0	0	0	1	2722	1285	45	2		2	CBFA2T2	20	32232451	Silent	SNP	G	TCGA-CR-7365-01A-11D-2012-08	11611045	32232451	30793069	174	34189											
EPB41L1	2036	broad.mit.edu	37	chr20	34761727	34761727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagacaggccccgactctGaggtgaagaaagctcaggag	13	4	14	10	1	2	4	1	2	1	2	2	7	2	5	2	3	1	1	2	3	2	0			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:34761727G>A	ENST00000338074.2	+	2	189	c.28G>A	c.(28-30)Gag>Aag	p.E10K	EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E10K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	10					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCCCGACTCTGAGGTGAAGAA	0.627													20	69					0	0	0	0	A	34761727	G	A	34761727	3	1	193	1	0	0	0	0	1	0	0	0	5190	1291	45	2	30	2	EPB41L1	20	34761727	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	2529276	34761727	28263793	175	34190											
RIMS4	140730	broad.mit.edu	37	chr20	43385614	43385614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtccagcgacttgcgagcGactttggtcttcttcttggc	4	13	13	11	3	3	0	0	0	3	0	4	3	4	0	1	3	3	0	1	3	0	5			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:43385614G>A	ENST00000372851.3	-	5	582	c.516C>T	c.(514-516)gtC>gtT	p.V172V	RIMS4_ENST00000541604.2_Silent_p.V173V	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	172	C2.				exocytosis|neurotransmitter transport	cell junction|synapse		p.V172V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ACTTGCGAGCGACTTTGGTCT	0.562													117	361					0	0	0	0	A	43385614	G	A	43385614	2	1	193	1	0	0	0	0	0	0	0	1	13455	1045	37	1		1	RIMS4	20	43385614	Silent	SNP	G	TCGA-CR-7365-01A-11D-2012-08	8623887	43385614	19639906	176	34191											
ELMO2	63916	broad.mit.edu	37	chr20	44999107	44999107	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttcagagcacttttcTctttcatgtggggacaatct	7	17	8	9	0	5	1	2	0	3	1	6	2	5	2	0	2	1	2	0	2	1	4			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:44999107T>C	ENST00000372176.1	-	20	2063	c.1595A>G	c.(1594-1596)gAg>gGg	p.E532G	ELMO2_ENST00000445496.2_Missense_Mutation_p.E437G|ELMO2_ENST00000454865.2_Missense_Mutation_p.E352G|ELMO2_ENST00000396391.1_Missense_Mutation_p.E620G|ELMO2_ENST00000290246.6_Missense_Mutation_p.E620G|ELMO2_ENST00000352077.2_Missense_Mutation_p.E618G|ELMO2_ENST00000439931.2_Missense_Mutation_p.E632G			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	620					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGCACTTTTCTCTTTCATGTG	0.458													27	107					0	0	0	0	C	44999107	T	C	44999107	3	2	193	1	0	0	0	0	1	0	0	0	5104	1551	54	5	315	5	ELMO2	20	44999107	Missense_Mutation	SNP	T	TCGA-CR-7365-01A-11D-2012-08	1613493	44999107	18026413	177	34192											
ITSN1	6453	broad.mit.edu	37	chr21	35208792	35208792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaccgcgcagaatgacgatGagctggccttcaacaagggc	12	5	12	12	3	1	3	1	2	0	1	1	4	1	3	2	2	2	2	2	2	3	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr21:35208792G>C	ENST00000381318.3	+	29	3805	c.3517G>C	c.(3517-3519)Gag>Cag	p.E1173Q	ITSN1_ENST00000399349.1_Missense_Mutation_p.E1097Q|ITSN1_ENST00000399352.1_Missense_Mutation_p.E1168Q|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399353.1_Missense_Mutation_p.E1131Q|ITSN1_ENST00000399355.2_Missense_Mutation_p.E1102Q|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1173Q|ITSN1_ENST00000381291.4_Missense_Mutation_p.E1173Q|ITSN1_ENST00000437442.2_Missense_Mutation_p.E1168Q|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1168Q|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1173	SH3 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAATGACGATGAGCTGGCCTT	0.572													19	26					0	0	0	0	C	35208792	G	C	35208792	3	2	193	1	0	0	0	0	1	0	0	0	7979	1291	45	2	3627	2	ITSN1	21	35208792	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08		35208792	12921103	178	34193											
NPTXR	23467	broad.mit.edu	37	chr22	39222541	39222541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccatgggctcatggccCgcctctagcagtacaatctc	8	9	9	15	1	3	0	1	0	2	0	5	0	4	0	3	2	3	4	3	2	3	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr22:39222541C>T	ENST00000333039.2	-	3	1185	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	354	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GCTCATGGCCCGCCTCTAGCA	0.667													15	95					0	0	0	0	T	39222541	C	T	39222541	2	4	193	1	0	0	0	0	0	0	0	1	10675	639	23	1		1	NPTXR	22	39222541	Silent	SNP	C	TCGA-CR-7365-01A-11D-2012-08		39222541	12082025	179	34194											
POLDIP3	84271	broad.mit.edu	37	chr22	42981957	42981957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctctcctttttcattgatGggctgtcactcagccgcctg	4	14	9	14	2	4	1	3	1	1	0	5	1	4	1	3	1	1	2	3	1	0	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr22:42981957G>T	ENST00000252115.5	-	9	1210	c.1106C>A	c.(1105-1107)cCa>cAa	p.P369Q	POLDIP3_ENST00000451060.2_3'UTR|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.P340Q|POLDIP3_ENST00000339677.6_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	369					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						TTTCATTGATGGGCTGTCACT	0.552													7	35					8.12818e-05	8.51524e-05	1	0	T	42981957	G	T	42981957	3	4	193	1	0	0	0	0	1	0	0	0	12267	1348	47	4	163	4	POLDIP3	22	42981957	Missense_Mutation	SNP	G	TCGA-CR-7365-01A-11D-2012-08	3759416	42981957	8322609	180	34195											
BEND2	139105	broad.mit.edu	37	chrX	18183158	18183158	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggtcagtggcgtcgggatCtcctggctttgactcctgct	3	13	14	11	2	2	1	1	1	1	0	5	2	3	2	2	4	1	2	2	4	0	1			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:18183158C>G	ENST00000380033.4	-	14	2503	c.2371G>C	c.(2371-2373)Gat>Cat	p.D791H		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	791										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCGTCGGGATCTCCTGGCTTT	0.478													64	43					0	0	0	0	G	18183158	C	G	18183158	3	3	193	1	0	0	0	0	1	0	0	0	1402	913	32	2	32	2	BEND2	23	18183158	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08		18183158	137087402	181	34196											
ZNF182	7569	broad.mit.edu	37	chrX	47837109	47837109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttggtgataattgttttcTtgtcagaaaatccaacttgc	10	17	7	7	0	3	2	1	1	2	1	4	2	4	2	1	1	2	1	1	1	4	7			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:47837109T>C	ENST00000396965.1	-	7	727	c.377A>G	c.(376-378)aAg>aGg	p.K126R	ZNF182_ENST00000376943.3_Missense_Mutation_p.K107R|ZNF182_ENST00000305127.6_Missense_Mutation_p.K126R	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						AATTGTTTTCTTGTCAGAAAA	0.383													14	8					0	0	0	0	C	47837109	T	C	47837109	3	2	193	1	0	0	0	0	1	0	0	0	17845	1609	56	5	1546	5	ZNF182	23	47837109	Missense_Mutation	SNP	T	TCGA-CR-7365-01A-11D-2012-08	29653951	47837109	107433451	182	34197											
HUWE1	10075	broad.mit.edu	37	chrX	53560308	53560308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcagagcactcctggatagCcaacagtagcatgtggcgga	11	8	12	10	1	1	1	1	0	0	1	2	3	2	3	2	3	4	3	2	3	3	3			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:53560308C>A	ENST00000342160.3	-	83	13544	c.13087G>T	c.(13087-13089)Gct>Tct	p.A4363S	HUWE1_ENST00000262854.6_Missense_Mutation_p.A4363S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4363	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCTGGATAGCCAACAGTAGC	0.512													8	5					0.000157383	0.000163462	1	0	A	53560308	C	A	53560308	3	1	193	1	0	0	0	0	1	0	0	0	7514	739	26	4	41	4	HUWE1	23	53560308	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	5723199	53560308	101710252	183	34198											
HUWE1	10075	broad.mit.edu	37	chrX	53589155	53589155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttactgccactgctgtcctCttcctgagtgtgctcctcct	3	15	8	15	0	1	1	0	1	1	0	5	1	5	1	5	0	4	3	5	0	1	2			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:53589155C>T	ENST00000342160.3	-	53	7712	c.7255G>A	c.(7255-7257)Gag>Aag	p.E2419K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2419K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2419	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGCTGTCCTCTTCCTGAGTG	0.498													17	12					0	0	0	0	T	53589155	C	T	53589155	3	4	193	1	0	0	0	0	1	0	0	0	7514	922	32	2	5993	2	HUWE1	23	53589155	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	28847	53589155	101681405	184	34199											
PCDH19	57526	broad.mit.edu	37	chrX	99657785	99657785	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggggtaccaggcggatgtCattcttactgatttttttct	6	16	10	9	2	3	1	1	1	2	0	3	2	3	2	2	4	2	1	2	4	2	6			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:99657785C>G	ENST00000373034.4	-	3	4028	c.2353G>C	c.(2353-2355)Gac>Cac	p.D785H	PCDH19_ENST00000420881.2_Missense_Mutation_p.D738H|PCDH19_ENST00000255531.7_Missense_Mutation_p.D738H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	785					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGGCGGATGTCATTCTTACTG	0.448													10	14					0	0	0	0	G	99657785	C	G	99657785	3	3	193	1	0	0	0	0	1	0	0	0	11585	826	29	2	1109	2	PCDH19	23	99657785	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	46068630	99657785	55612775	185	34200											
NKAP	79576	broad.mit.edu	37	chrX	119066103	119066103	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagggattttccagaaactCttcttgggattctttagagc	9	14	9	9	0	3	2	0	0	3	2	4	4	4	4	2	2	2	0	2	2	2	7			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:119066103C>G	ENST00000371410.3	-	6	980	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	272	Necessary for interaction with CIR1.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TCCAGAAACTCTTCTTGGGAT	0.353													74	51					0	0	0	0	G	119066103	C	G	119066103	3	3	193	1	0	0	0	0	1	0	0	0	10509	922	32	2	449	2	NKAP	23	119066103	Missense_Mutation	SNP	C	TCGA-CR-7365-01A-11D-2012-08	19408318	119066103	36204457	186	34201											
FLNA	2316	broad.mit.edu	37	chrX	153580304	153580305	+	Frame_Shift_Del	DEL	AA	AA	-																															gagccgtccttgcggtcctcAaaagagatctcagccttgct																										TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:153580304_153580305delAA	ENST00000422373.1	-	41	7078_7079	c.6830_6831delTT	c.(6829-6831)tfs	p.F2277fs	FLNA_ENST00000369856.3_Frame_Shift_Del_p.F418fs|FLNA_ENST00000369850.3_Frame_Shift_Del_p.F2285fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.F2277fs|FLNA_ENST00000344736.4_Frame_Shift_Del_p.F2245fs	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2285					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCGGTCCTCAAAAGAGATCTC	0.619													40	22	---	---	---	---					-	153580305	AA	-	153580304	7	5	193	1	0	1	0	1	0	0	0	0	5978	127	5	0	1116	0	FLNA	23	153580304	Frame_Shift_Del	DEL	AA	TCGA-CR-7365-01A-11D-2012-08	34514201	153580304	1690256	187	34202											
TAS1R1	80835	broad.mit.edu	37	chr1	6635143	6635143	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgcccgggatccagcgCattgggatggtgctgggcgt	4	8	20	9	3	0	0	0	0	0	0	1	2	1	2	2	6	3	2	2	6	0	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:6635143C>T	ENST00000333172.6	+	3	1144	c.951C>T	c.(949-951)cgC>cgT	p.R317R	TAS1R1_ENST00000328191.4_Silent_p.R317R|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	317					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGATCCAGCGCATTGGGATGG	0.642													10	32					0	0	0	0	T	6635143	C	T	6635143	2	4	194	1	0	0	0	0	0	0	0	1	15653	697	25	4		4	TAS1R1	1	6635143	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08		6635143	242615478	1	34203											
VPS13D	55187	broad.mit.edu	37	chr1	12326995	12326995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcgttgctttcagtccGgttgggtggactgtttcttc	2	18	11	10	2	2	0	1	0	1	0	6	1	4	1	2	3	1	4	2	3	0	6			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:12326995G>A	ENST00000358136.3	+	14	1782	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R551Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	551					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTTTCAGTCCGGTTGGGTGGA	0.388													16	35					0	0	0	0	A	12326995	G	A	12326995	3	1	194	1	0	0	0	0	1	0	0	0	17288	1116	39	1	1702	1	VPS13D	1	12326995	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	5691852	12326995	236923626	2	34204											
HNRNPR	10236	broad.mit.edu	37	chr1	23637236	23637241	+	In_Frame_Del	DEL	GGTCCC	GGTCCC	-																															cacccctagagcctcttggtGgtcccaaaggtgcccccctc																										TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:23637236_23637241delGGTCCC	ENST00000478691.1	-	10	1585_1590	c.1314_1319delGGGACC	c.(1312-1320)tta>tt	p.LGP438del	HNRNPR_ENST00000606561.1_In_Frame_Del_p.LGP397del|HNRNPR_ENST00000374612.1_In_Frame_Del_p.LGP536del|HNRNPR_ENST00000374616.3_In_Frame_Del_p.LGP539del|HNRNPR_ENST00000302271.6_In_Frame_Del_p.LGP536del|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000427764.2_In_Frame_Del_p.LGP498del|HNRNPR_ENST00000426846.2_In_Frame_Del_p.LGP376del	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	536						catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GCCTCTTGGTGGTCCCAAAGGTGCCC	0.646													14	75	---	---	---	---					-	23637241	GGTCCC	-	23637236	7	5	194	1	0	1	0	1	0	0	0	0	7322	1348	47	0	292	0	HNRNPR	1	23637236	In_Frame_Del	DEL	GGTCCC	TCGA-CR-7367-01A-11D-2012-08	11310241	23637236	225613385	3	34205											
TMEM39B	55116	broad.mit.edu	37	chr1	32557499	32557499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtcacccagcctcatcCgcagtgaggtggagttcctc	6	9	11	15	1	2	1	2	1	0	0	5	2	4	2	5	2	1	2	5	2	0	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:32557499C>T	ENST00000427288.1	+	7	949	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	TMEM39B_ENST00000373634.4_Missense_Mutation_p.R73C|TMEM39B_ENST00000456834.2_Missense_Mutation_p.P220L|TMEM39B_ENST00000336294.5_Missense_Mutation_p.R272C|TMEM39B_ENST00000487305.1_3'UTR			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	272						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAGCCTCATCCGCAGTGAGGT	0.597													5	49					0	0	0	0	T	32557499	C	T	32557499	3	4	194	1	0	0	0	0	1	0	0	0	16256	652	23	1	836	1	TMEM39B	1	32557499	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	8920263	32557499	216693122	4	34206											
ELAVL4	1996	broad.mit.edu	37	chr1	50666696	50666696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaacgtaaaggtgattcGtgacttcaacaccaacaagt	16	8	8	9	2	1	2	1	2	0	0	2	3	1	2	1	1	4	1	1	1	7	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:50666696G>A	ENST00000371824.1	+	7	1204	c.947G>A	c.(946-948)cGt>cAt	p.R316H	ELAVL4_ENST00000371823.4_Missense_Mutation_p.R330H|ELAVL4_ENST00000371819.1_Missense_Mutation_p.R321H|ELAVL4_ENST00000357083.4_Missense_Mutation_p.R333H|ELAVL4_ENST00000371821.1_Missense_Mutation_p.R335H|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R319H|ELAVL4_ENST00000371827.1_Missense_Mutation_p.R316H			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	330	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AAGGTGATTCGTGACTTCAAC	0.542													10	68					0	0	0	0	A	50666696	G	A	50666696	3	1	194	1	0	0	0	0	1	0	0	0	5090	1145	40	1	1114	1	ELAVL4	1	50666696	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	18109197	50666696	198583925	5	34207											
C1orf177	163747	broad.mit.edu	37	chr1	55282673	55282673	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgcagaacccagtaggTgtgggccgctacctcaacac	9	8	11	13	1	1	1	1	0	0	1	1	1	1	1	3	2	4	4	3	2	4	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:55282673T>A	ENST00000358193.3	+	9	1116	c.1062T>A	c.(1060-1062)ggT>ggA	p.G354G	C1orf177_ENST00000371273.3_Silent_p.G354G	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	354										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACCCAGTAGGTGTGGGCCGCT	0.572													6	40					0	0	0	0	A	55282673	T	A	55282673	2	1	194	1	0	0	0	0	0	0	0	1	2036	1683	59	5		5	C1orf177	1	55282673	Silent	SNP	T	TCGA-CR-7367-01A-11D-2012-08	4615977	55282673	193967948	6	34208											
C8A	731	broad.mit.edu	37	chr1	57351627	57351627	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcacaagaatcttcacaAaggtgcagactgcacatttt	13	13	6	9	0	3	2	2	0	1	2	3	2	3	2	0	1	2	2	0	1	3	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:57351627A>T	ENST00000361249.3	+	7	979	c.883A>T	c.(883-885)Aag>Tag	p.K295*		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	295	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AATCTTCACAAAGGTGCAGAC	0.368													20	29					0	0	0	0	T	57351627	A	T	57351627	4	4	194	1	0	0	0	0	0	1	0	0	2439	15	1	5	909	5	C8A	1	57351627	Nonsense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	2068954	57351627	191898994	7	34209											
DAB1	1600	broad.mit.edu	37	chr1	57611078	57611078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctttaaacctctttatcAaagtggcttcactgcgatcc	10	13	5	13	1	3	0	2	0	1	0	4	1	4	0	3	1	2	1	3	1	4	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:57611078A>G	ENST00000371236.2	-	3	355	c.92T>C	c.(91-93)tTg>tCg	p.L31S	DAB1_ENST00000420954.2_Missense_Mutation_p.L31S|DAB1_ENST00000371231.1_Missense_Mutation_p.L31S|DAB1_ENST00000439789.2_Missense_Mutation_p.L31S|DAB1_ENST00000414851.2_Missense_Mutation_p.L31S|DAB1_ENST00000371234.4_Missense_Mutation_p.L31S|DAB1_ENST00000371230.1_Missense_Mutation_p.L31S|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	31					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCTCTTTATCAAAGTGGCTTC	0.443													5	47					0	0	0	0	G	57611078	A	G	57611078	3	3	194	1	0	0	0	0	1	0	0	0	4250	131	5	5	1623	5	DAB1	1	57611078	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	259451	57611078	191639543	8	34210											
COL24A1	255631	broad.mit.edu	37	chr1	86529426	86529426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagtcctgggagtccaGgatgtcctttgagaccctgt	7	11	13	10	0	0	1	0	1	0	1	3	5	3	4	4	3	0	0	4	3	1	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:86529426G>C	ENST00000370571.2	-	8	2090	c.1724C>G	c.(1723-1725)cCt>cGt	p.P575R	COL24A1_ENST00000436319.1_Missense_Mutation_p.P575R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	575	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGGGAGTCCAGGATGTCCTTT	0.383													20	103					0	0	0	0	C	86529426	G	C	86529426	3	2	194	1	0	0	0	0	1	0	0	0	3713	1000	35	4	3632	4	COL24A1	1	86529426	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	28918348	86529426	162721195	9	34211											
COL11A1	1301	broad.mit.edu	37	chr1	103491099	103491099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgtcccagaaacatgcCtaggagcttctgtctggtaa	10	12	9	10	0	2	1	0	0	2	1	3	2	3	2	2	2	3	2	2	2	3	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:103491099C>T	ENST00000358392.2	-	7	1321	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K	COL11A1_ENST00000370096.3_Missense_Mutation_p.R323K|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.R284K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	323	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGAAACATGCCTAGGAGCTTC	0.328													6	47					0	0	0	0	T	103491099	C	T	103491099	3	4	194	1	0	0	0	0	1	0	0	0	3697	681	24	4	4696	4	COL11A1	1	103491099	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	16961673	103491099	145759522	10	34212											
AMY2B	280	broad.mit.edu	37	chr1	104115869	104115869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagatatcgagaactacaAtgatgctactcaggtaaatt	15	11	9	6	1	1	3	1	1	0	2	2	5	1	3	0	2	4	2	0	2	7	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:104115869A>G	ENST00000361355.4	+	5	1116	c.500A>G	c.(499-501)aAt>aGt	p.N167S	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	167					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GAGAACTACAATGATGCTACT	0.358													43	352					0	0	0	0	G	104115869	A	G	104115869	3	3	194	1	0	0	0	0	1	0	0	0	595	101	4	5	510	5	AMY2B	1	104115869	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	624770	104115869	145134752	11	34213											
HSD3B2	3284	broad.mit.edu	37	chr1	119962178	119962178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttggtgtcactcacagaGagtccatcatgaatgtcaat	11	13	8	9	0	5	2	4	1	1	1	6	3	6	2	1	1	0	0	1	1	2	1	rs6211	byFrequency	TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:119962178G>A	ENST00000543831.1	+	3	529	c.280G>A	c.(280-282)Gag>Aag	p.E94K	HSD3B2_ENST00000471656.1_3'UTR|HSD3B2_ENST00000369416.3_Missense_Mutation_p.E94K	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	94			E -> Q (in dbSNP:rs6211).	HRE -> RRQ (in Ref. 8; AAD14329).	androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CACTCACAGAGAGTCCATCAT	0.463													6	56					0	0	0	0	A	119962178	G	A	119962178	3	1	194	1	0	0	0	0	1	0	0	0	7441	943	33	2	286	2	HSD3B2	1	119962178	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	15846309	119962178	129288443	12	34214											
PIAS3	10401	broad.mit.edu	37	chr1	145581554	145581554	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctccctatgaatctcttAtcattgatgggtagggccat	9	13	10	9	0	2	2	1	2	1	0	4	2	3	2	2	3	0	2	2	3	4	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:145581554A>G	ENST00000393045.2	+	9	1225	c.1135A>G	c.(1135-1137)Atc>Gtc	p.I379V	PIAS3_ENST00000369298.1_Missense_Mutation_p.I344V	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	379					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGAATCTCTTATCATTGATGG	0.403													14	89					0	0	0	0	G	145581554	A	G	145581554	3	3	194	1	0	0	0	0	1	0	0	0	11949	449	16	5	1169	5	PIAS3	1	145581554	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	25619376	145581554	103669067	13	34215											
THEM5	284486	broad.mit.edu	37	chr1	151824868	151824868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtacaggctcagcatgtccGaacaccagctggcattggga	10	7	13	11	1	1	0	1	0	0	0	2	2	2	1	2	4	4	5	2	4	2	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:151824868G>A	ENST00000368817.5	-	2	322	c.191C>T	c.(190-192)tCg>tTg	p.S64L		NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	64							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCATGTCCGAACACCAGCT	0.493													20	117					0	0	0	0	A	151824868	G	A	151824868	3	1	194	1	0	0	0	0	1	0	0	0	15953	1059	37	1	572	1	THEM5	1	151824868	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	6243314	151824868	97425753	14	34216											
RPTN	126638	broad.mit.edu	37	chr1	152128610	152128610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctggccttgtctgtccGtctgactgtagtgggaactc	6	13	11	11	1	3	1	0	1	3	0	5	2	4	2	2	2	2	1	2	2	3	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:152128610G>A	ENST00000316073.3	-	3	1029	c.965C>T	c.(964-966)aCg>aTg	p.T322M		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	322	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTGTCTGTCCGTCTGACTGTA	0.498													13	916					0	0	0	0	A	152128610	G	A	152128610	3	1	194	1	0	0	0	0	1	0	0	0	13749	1145	40	1	1393	1	RPTN	1	152128610	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	303742	152128610	97122011	15	34217											
FCRL6	343413	broad.mit.edu	37	chr1	159785428	159785428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctccaagaaccccttagcGactgtgaggaggttctctgc	8	10	10	13	1	2	2	0	1	2	1	4	4	2	3	3	2	3	1	3	2	3	2	rs146779081	byFrequency	TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:159785428G>A	ENST00000368106.3	+	10	1283	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	FCRL6_ENST00000321935.6_3'UTR|FCRL6_ENST00000339348.5_3'UTR	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	428						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ACCCCTTAGCGACTGTGAGGA	0.547													10	46					0	0	0	0	A	159785428	G	A	159785428	3	1	194	1	0	0	0	0	1	0	0	0	5844	1058	37	1	1320	1	FCRL6	1	159785428	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	7656818	159785428	89465193	16	34218											
EPRS	2058	broad.mit.edu	37	chr1	220153465	220153465	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagatataaatgcttctaTtgtagttgtatagtctcctc	11	16	7	7	0	2	1	0	0	2	1	4	1	2	1	1	0	2	5	1	0	7	9			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:220153465T>C	ENST00000366923.3	-	26	3942	c.3673A>G	c.(3673-3675)Ata>Gta	p.I1225V		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1225	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AATGCTTCTATTGTAGTTGTA	0.408													11	118					0	0	0	0	C	220153465	T	C	220153465	3	2	194	1	0	0	0	0	1	0	0	0	5229	1493	52	5	893	5	EPRS	1	220153465	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	60368037	220153465	29097156	17	34219											
PARP1	142	broad.mit.edu	37	chr1	226552719	226552719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataccacgggcgcttcaggcGgggctatccgaagaccctgg	8	6	14	13	4	1	1	1	0	0	1	2	2	2	1	3	5	1	2	3	5	3	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:226552719G>A	ENST00000366794.5	-	19	2785	c.2642C>T	c.(2641-2643)cCg>cTg	p.P881L	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	881	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CGCTTCAGGCGGGGCTATCCG	0.567								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					4	90					0	0	0	0	A	226552719	G	A	226552719	3	1	194	1	0	0	0	0	1	0	0	0	11525	1116	39	1	422	1	PARP1	1	226552719	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	6399254	226552719	22697902	18	34220											
SNAP47	116841	broad.mit.edu	37	chr1	227935683	227935683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaagcactggttcagctcCctgcggccaagtcgaaatgt	9	8	11	13	2	1	0	1	0	0	0	3	1	2	0	3	2	3	3	3	2	3	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:227935683C>T	ENST00000366759.4	+	2	795	c.381C>T	c.(379-381)tcC>tcT	p.S127S	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Silent_p.S127S	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	127						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGTTCAGCTCCCTGCGGCCAA	0.547													8	90					0	0	0	0	T	227935683	C	T	227935683	2	4	194	1	0	0	0	0	0	0	0	1	14920	610	22	4		4	SNAP47	1	227935683	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	1382964	227935683	21314938	19	34221											
GNPAT	8443	broad.mit.edu	37	chr1	231396372	231396372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtgccttcaccctgagCaaagtatttaaacaaatttt	12	16	5	8	0	1	1	1	1	0	0	1	1	1	1	2	0	3	2	2	0	5	8			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:231396372C>A	ENST00000366647.4	+	3	550	c.381C>A	c.(379-381)agC>agA	p.S127R	GNPAT_ENST00000366646.3_Missense_Mutation_p.S66R	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	127					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCACCCTGAGCAAAGTATTTA	0.363													29	233					2.85442e-18	6.44152e-18	1	0	A	231396372	C	A	231396372	3	1	194	1	0	0	0	0	1	0	0	0	6592	709	25	4	391	4	GNPAT	1	231396372	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	3460689	231396372	17854249	20	34222											
RYR2	6262	broad.mit.edu	37	chr1	237659856	237659856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagtgaaggttctgctcaGtataagaaatggtactatga	13	12	11	5	0	3	3	2	2	1	1	3	3	3	3	0	2	2	4	0	2	6	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:237659856G>A	ENST00000366574.2	+	20	2324	c.2007G>A	c.(2005-2007)caG>caA	p.Q669Q	RYR2_ENST00000542537.1_Silent_p.Q653Q|RYR2_ENST00000360064.6_Silent_p.Q667Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	669	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTCTGCTCAGTATAAGAAAT	0.448													13	59					0	0	0	0	A	237659856	G	A	237659856	2	1	194	1	0	0	0	0	0	0	0	1	13854	1020	36	4		4	RYR2	1	237659856	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08	6263484	237659856	11590765	21	34223											
AKT3	10000	broad.mit.edu	37	chr1	243708856	243708856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttactccagagaagaaacTgtgtctcataatttcttttg	11	16	7	7	0	2	2	1	0	2	2	4	3	3	2	1	0	2	1	1	0	4	6			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:243708856T>C	ENST00000366539.1	-	12	1407	c.1207A>G	c.(1207-1209)Agt>Ggt	p.S403G	AKT3_ENST00000263826.5_Missense_Mutation_p.S403G|AKT3_ENST00000366540.1_Missense_Mutation_p.S403G|RP11-269F20.1_ENST00000439849.1_RNA|AKT3_ENST00000336199.5_Missense_Mutation_p.S403G			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	403	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GAGAAGAAACTGTGTCTCATA	0.328													8	54					0	0	0	0	C	243708856	T	C	243708856	3	2	194	1	0	0	0	0	1	0	0	0	481	1580	55	5	292	5	AKT3	1	243708856	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	6049000	243708856	5541765	22	34224											
OR2L3	391192	broad.mit.edu	37	chr1	248223987	248223987	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcacacgaatgccccatgGaaaattacaatcaaacatca	18	6	6	11	1	2	0	2	0	0	0	2	3	2	1	2	1	4	1	2	1	6	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:248223987G>T	ENST00000359959.3	+	1	4	c.4G>T	c.(4-6)Gaa>Taa	p.E2*	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATGCCCCATGGAAAATTACAA	0.408													30	119					5.77227e-19	1.3167e-18	1	0	T	248223987	G	T	248223987	4	4	194	1	0	0	0	0	0	1	0	0	11079	1175	41	2	6	2	OR2L3	1	248223987	Nonsense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	4515131	248223987	1026634	23	34225											
OR2L3	391192	broad.mit.edu	37	chr1	248224181	248224181	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctacttagtcagctctcCctcattgacctaaattacat	10	15	3	13	0	3	1	2	1	1	0	5	1	4	1	3	0	3	1	3	0	5	6			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:248224181C>G	ENST00000359959.3	+	1	198	c.198C>G	c.(196-198)tcC>tcG	p.S66S	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GTCAGCTCTCCCTCATTGACC	0.423													39	326					0	0	0	0	G	248224181	C	G	248224181	2	3	194	1	0	0	0	0	0	0	0	1	11079	610	22	4		4	OR2L3	1	248224181	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	194	248224181	1026440	24	34226											
MYT1L	23040	broad.mit.edu	37	chr2	1921066	1921066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtggccggttccatcacacCcgggggttggacacttgctc	5	9	13	14	3	1	0	1	0	0	0	3	1	2	1	3	5	1	3	3	5	0	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:1921066C>A	ENST00000399161.2	-	11	2276	c.1529G>T	c.(1528-1530)gGg>gTg	p.G510V	MYT1L_ENST00000428368.2_Missense_Mutation_p.G508V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	510					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCATCACACCCGGGGGTTGG	0.507													54	104					1.86277e-20	4.29557e-20	1	0	A	1921066	C	A	1921066	3	1	194	1	0	0	0	0	1	0	0	0	10177	623	22	4	2091	4	MYT1L	2	1921066	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08		1921066	241278307	25	34227											
NBAS	51594	broad.mit.edu	37	chr2	15417199	15417199	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagatgaaggtcttgggctCtattttcaatttctagtgtg	9	16	11	5	0	4	2	1	1	3	1	4	3	4	2	0	2	0	1	0	2	4	6			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:15417199C>G	ENST00000281513.5	-	43	5190	c.5165G>C	c.(5164-5166)aGa>aCa	p.R1722T	NBAS_ENST00000441750.1_Missense_Mutation_p.R1602T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1722										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTCTTGGGCTCTATTTTCAAT	0.358													4	30					0	0	0	0	G	15417199	C	G	15417199	3	3	194	1	0	0	0	0	1	0	0	0	10256	913	32	2	1990	2	NBAS	2	15417199	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	13496133	15417199	227782174	26	34228											
APOB	338	broad.mit.edu	37	chr2	21239357	21239357	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaattttcttgttctgaaTgtccagggtgagtctgtaag	9	16	11	5	0	3	2	0	2	3	0	4	2	4	2	1	1	0	3	1	1	3	6			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:21239357T>C	ENST00000233242.1	-	21	3413	c.3286A>G	c.(3286-3288)Att>Gtt	p.I1096V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1096					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGTTCTGAATGTCCAGGGTG	0.478													6	46					0	0	0	0	C	21239357	T	C	21239357	3	2	194	1	0	0	0	0	1	0	0	0	787	1464	51	5	10441	5	APOB	2	21239357	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	5822158	21239357	221960016	27	34229											
ATAD2B	54454	broad.mit.edu	37	chr2	24011485	24011485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttgaatatacaagacCtcttcatactgtattctaaa	13	14	5	9	0	3	2	1	1	2	1	3	2	3	2	2	1	2	1	2	1	8	8			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:24011485C>A	ENST00000238789.5	-	20	3016	c.2673G>T	c.(2671-2673)gaG>gaT	p.E891D	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	891							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATACAAGACCTCTTCATACT	0.313													13	22					0.00136819	0.00258914	1	0	A	24011485	C	A	24011485	3	1	194	1	0	0	0	0	1	0	0	0	1076	680	24	4	1739	4	ATAD2B	2	24011485	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	2772128	24011485	219187888	28	34230											
DQX1	165545	broad.mit.edu	37	chr2	74745638	74745638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgctccctgctgtagaatCtgccattccttcccttagct	5	16	6	14	0	1	1	0	0	1	1	4	1	4	1	4	0	4	4	4	0	3	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:74745638C>T	ENST00000404568.3	-	12	2308	c.2089G>A	c.(2089-2091)Gat>Aat	p.D697N	DQX1_ENST00000393951.2_Missense_Mutation_p.D697N	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	697						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GCTGTAGAATCTGCCATTCCT	0.532													9	51					0	0	0	0	T	74745638	C	T	74745638	3	4	194	1	0	0	0	0	1	0	0	0	4787	913	32	2	68	2	DQX1	2	74745638	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	50734153	74745638	168453735	29	34231											
GYPC	2995	broad.mit.edu	37	chr2	127451474	127451474	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctggatggccggatggCagaatggagacctccacccc	9	7	13	12	1	1	2	0	0	1	2	2	5	2	4	5	5	0	1	5	5	1	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:127451474C>A	ENST00000259254.4	+	3	472	c.141C>A	c.(139-141)ggC>ggA	p.G47G	GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000409836.3_Silent_p.G28G|GYPC_ENST00000356887.7_Silent_p.G26G	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	47						cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		GGCCGGATGGCAGAATGGAGA	0.562													9	84					0.000274275	0.000528512	1	0	A	127451474	C	A	127451474	2	1	194	1	0	0	0	0	0	0	0	1	6960	697	25	4		4	GYPC	2	127451474	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	52705836	127451474	115747899	30	34232											
FMNL2	114793	broad.mit.edu	37	chr2	153504404	153504404	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgttctgttaatggtgcCgaaataacaatgtgaacctg	11	13	10	7	2	1	1	0	1	1	0	1	2	1	1	2	1	4	2	2	1	5	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:153504404C>T	ENST00000288670.9	+	26	3631	c.3264C>T	c.(3262-3264)gcC>gcT	p.A1088A	FMNL2_ENST00000475377.2_3'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	0					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TTAATGGTGCCGAAATAACAA	0.478													20	169					0	0	0	0	T	153504404	C	T	153504404	2	4	194	1	0	0	0	0	0	0	0	1	5997	639	23	1		1	FMNL2	2	153504404	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	26052930	153504404	89694969	31	34233											
KLHL23	151230	broad.mit.edu	37	chr2	170592711	170592711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctttaaaagagaaatGgattcctattgcaaacatga	16	12	7	6	0	0	3	0	2	0	1	2	5	2	4	2	1	2	1	2	1	5	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:170592711G>T	ENST00000392647.2	+	2	1431	c.1187G>T	c.(1186-1188)tGg>tTg	p.W396L	KLHL23_ENST00000272797.4_Missense_Mutation_p.W396L|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	396										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						AAAGAGAAATGGATTCCTATT	0.408													12	104					7.03913e-09	1.46331e-08	1	0	T	170592711	G	T	170592711	3	4	194	1	0	0	0	0	1	0	0	0	8430	1357	47	4	1189	4	KLHL23	2	170592711	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	17088307	170592711	72606662	32	34234											
DNAJC10	54431	broad.mit.edu	37	chr2	183627484	183627484	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccagaaagctgggatcAgggcctatccaactgttaaa	13	8	10	10	0	1	1	1	0	0	1	2	2	2	2	3	2	3	2	3	2	5	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:183627484A>C	ENST00000264065.6	+	22	2636	c.2221A>C	c.(2221-2223)Agg>Cgg	p.R741R		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	741	Thioredoxin 4.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGCTGGGATCAGGGCCTATCC	0.408													4	49					0	0	0	0	C	183627484	A	C	183627484	2	2	194	1	0	0	0	0	0	0	0	1	4665	179	7	5		5	DNAJC10	2	183627484	Silent	SNP	A	TCGA-CR-7367-01A-11D-2012-08	13034773	183627484	59571889	33	34235											
ALS2	57679	broad.mit.edu	37	chr2	202593826	202593826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgtgtattctgcttcCttccttttcctgccgagatg	4	16	8	13	1	1	1	0	0	1	1	4	2	4	1	5	0	2	2	5	0	1	6			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:202593826C>T	ENST00000264276.6	-	14	3033	c.2661G>A	c.(2659-2661)aaG>aaA	p.K887K	ALS2_ENST00000457679.2_Silent_p.K199K	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	887					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ATTCTGCTTCCTTCCTTTTCC	0.453													129	78					0	0	0	0	T	202593826	C	T	202593826	2	4	194	1	0	0	0	0	0	0	0	1	550	680	24	4		4	ALS2	2	202593826	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	18966342	202593826	40605547	34	34236											
CPS1	1373	broad.mit.edu	37	chr2	211502448	211502448	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccatgacagaagaaaccCtgaaaagggcaaaggagatt	18	5	11	7	0	0	5	0	2	0	3	1	6	1	5	2	2	1	1	2	2	5	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:211502448C>G	ENST00000233072.5	+	22	2906	c.2710C>G	c.(2710-2712)Ctg>Gtg	p.L904V	CPS1_ENST00000430249.2_Missense_Mutation_p.L910V|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.L453V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	904					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AGAAGAAACCCTGAAAAGGGC	0.398													7	39					0	0	0	0	G	211502448	C	G	211502448	3	3	194	1	0	0	0	0	1	0	0	0	3853	680	24	4	2818	4	CPS1	2	211502448	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	8908622	211502448	31696925	35	34237											
CHRND	1144	broad.mit.edu	37	chr2	233398936	233398936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccctcgtctgtaggcCggcccccagcaagctctgag	5	7	12	17	2	2	1	0	1	2	0	3	1	2	1	5	3	2	3	5	3	2	1	rs140455307		TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:233398936C>T	ENST00000258385.3	+	11	1287	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	CHRND_ENST00000457943.2_Missense_Mutation_p.R225W|CHRND_ENST00000543200.1_Missense_Mutation_p.R404W	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	419					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GTCTGTAGGCCGGCCCCCAGC	0.607													12	71					0	0	0	0	T	233398936	C	T	233398936	3	4	194	1	0	0	0	0	1	0	0	0	3423	643	23	1	1297	1	CHRND	2	233398936	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	21896488	233398936	9800437	36	34238											
GIGYF2	26058	broad.mit.edu	37	chr2	233680442	233680442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctagagaaggccaaagctGcaaaggtctgaaactcattc	15	7	10	9	0	2	2	1	1	1	1	3	3	2	2	1	2	4	3	1	2	5	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:233680442G>T	ENST00000373566.3	+	20	2466	c.2269G>T	c.(2269-2271)Gca>Tca	p.A757S	GIGYF2_ENST00000409196.3_Missense_Mutation_p.A729S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.A735S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.A757S|GIGYF2_ENST00000452341.2_Missense_Mutation_p.A566S|GIGYF2_ENST00000409451.3_Missense_Mutation_p.A756S|GIGYF2_ENST00000409547.1_Missense_Mutation_p.A735S			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	735	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGCCAAAGCTGCAAAGGTCTG	0.478													3	29					0.004672	0.0087626	1	0	T	233680442	G	T	233680442	3	4	194	1	0	0	0	0	1	0	0	0	6429	1319	46	4	2339	4	GIGYF2	2	233680442	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	281506	233680442	9518931	37	34239											
HDAC4	9759	broad.mit.edu	37	chr2	240085518	240085518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgtaccagtagcgagggtCgctggaaatgcagtggttca	9	8	14	10	3	1	0	1	0	0	0	2	2	1	1	2	3	3	5	2	3	3	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:240085518C>T	ENST00000345617.3	-	6	1383	c.592G>A	c.(592-594)Gac>Aac	p.D198N	HDAC4_ENST00000541256.1_Missense_Mutation_p.D167N	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	198	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TAGCGAGGGTCGCTGGAAATG	0.562													22	78					0	0	0	0	T	240085518	C	T	240085518	3	4	194	1	0	0	0	0	1	0	0	0	7059	884	31	1	2750	1	HDAC4	2	240085518	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	6405076	240085518	3113855	38	34240											
RAF1	5894	broad.mit.edu	37	chr3	12653459	12653459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctcttaccctttgtgttCgtggagaagtctgaacactg	8	13	11	9	1	2	2	0	1	2	1	3	4	2	2	1	1	3	2	1	1	3	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:12653459C>T	ENST00000251849.4	-	3	749	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	RAF1_ENST00000542177.1_Intron|RAF1_ENST00000442415.2_Missense_Mutation_p.E104K	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	104	RBD.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CCTTTGTGTTCGTGGAGAAGT	0.428			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				49	87					0	0	0	0	T	12653459	C	T	12653459	3	4	194	1	0	0	0	0	1	0	0	0	13084	893	31	1	1696	1	RAF1	3	12653459	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08		12653459	185368971	39	34241											
ATRIP	84126	broad.mit.edu	37	chr3	48491541	48491541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagataatttcgaattagagGtacttcaggcacaatacaaa	18	10	7	6	1	1	2	1	0	0	2	2	3	1	2	0	2	2	2	0	2	8	6			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:48491541G>T	ENST00000412052.1	+	2	529	c.67G>T	c.(67-69)Gta>Tta	p.V23L	ATRIP_ENST00000357105.6_5'UTR|ATRIP_ENST00000346691.4_Missense_Mutation_p.V116L|ATRIP_ENST00000320211.3_Missense_Mutation_p.V116L	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	116					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAATTAGAGGTACTTCAGGC	0.333								Other conserved DNA damage response genes					31	53					1.88708e-17	4.2359e-17	1	0	T	48491541	G	T	48491541	3	4	194	1	0	0	0	0	1	0	0	0	1209	1261	44	4	352	4	ATRIP	3	48491541	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	35838082	48491541	149530889	40	34242											
RNF123	63891	broad.mit.edu	37	chr3	49744294	49744294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctggaccacctgagccGccgtcttgcctgggtccatg	7	8	12	14	2	1	1	0	1	1	0	2	2	2	2	6	2	3	1	6	2	1	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:49744294G>A	ENST00000327697.6	+	26	2603	c.2459G>A	c.(2458-2460)cGc>cAc	p.R820H	RNF123_ENST00000432042.1_Missense_Mutation_p.R674H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	820						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CACCTGAGCCGCCGTCTTGCC	0.567													12	45					0	0	0	0	A	49744294	G	A	49744294	3	1	194	1	0	0	0	0	1	0	0	0	13518	1087	38	1	2557	1	RNF123	3	49744294	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	1252753	49744294	148278136	41	34243											
CBLB	868	broad.mit.edu	37	chr3	105421037	105421037	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgacatttgaactcgcTgtgattccaggttttggaga	9	14	10	8	1	0	4	0	3	0	1	2	5	1	4	2	2	1	2	2	2	1	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:105421037T>A	ENST00000264122.4	-	12	2181	c.1860A>T	c.(1858-1860)acA>acT	p.T620T	CBLB_ENST00000403724.1_Silent_p.T620T|CBLB_ENST00000394027.3_Silent_p.T642T|CBLB_ENST00000405772.1_Silent_p.T620T	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	620	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTGAACTCGCTGTGATTCCAG	0.517			Mis S		AML								20	100					0	0	0	0	A	105421037	T	A	105421037	2	1	194	1	0	0	0	0	0	0	0	1	2726	1567	55	5		5	CBLB	3	105421037	Silent	SNP	T	TCGA-CR-7367-01A-11D-2012-08	55676743	105421037	92601393	42	34244											
CCDC54	84692	broad.mit.edu	37	chr3	107096565	107096565	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcggcaccaagattcaactgGatatcccactgtgacatctg	11	10	8	12	1	2	2	1	1	1	1	4	3	3	3	2	2	1	1	2	2	3	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:107096565G>C	ENST00000261058.1	+	1	378	c.131G>C	c.(130-132)gGa>gCa	p.G44A		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	44										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GATTCAACTGGATATCCCACT	0.398													16	94					0	0	0	0	C	107096565	G	C	107096565	3	2	194	1	0	0	0	0	1	0	0	0	2851	1174	41	2	133	2	CCDC54	3	107096565	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	1675528	107096565	90925865	43	34245											
LRRC58	116064	broad.mit.edu	37	chr3	120053967	120053967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagttattgtgaagacttaGggaacgaagtgaatgtaacc	15	10	11	5	1	0	3	0	2	0	1	0	5	0	4	1	1	2	2	1	1	8	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:120053967G>A	ENST00000295628.3	-	3	744	c.649C>T	c.(649-651)Cta>Tta	p.L217L		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	217										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TGAAGACTTAGGGAACGAAGT	0.348													4	53					0	0	0	0	A	120053967	G	A	120053967	2	1	194	1	0	0	0	0	0	0	0	1	9078	991	35	4		4	LRRC58	3	120053967	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08	12957402	120053967	77968463	44	34246											
UROC1	131669	broad.mit.edu	37	chr3	126220060	126220060	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caactcccaacccccactcaCcaaagagccaccacgttgcc	12	4	4	21	1	1	1	1	0	0	1	2	1	2	1	7	0	4	1	7	0	3	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:126220060C>T	ENST00000290868.2	-	10	1019		c.e10+1		UROC1_ENST00000383579.3_Splice_Site	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1						histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCCCCACTCACCAAAGAGCCA	0.562													29	282					0	0	0	0	T	126220060	C	T	126220060	5	4	194	1	0	0	0	0	0	0	1	0	17124	521	18	4	1108	4	UROC1	3	126220060	Splice_Site	SNP	C	TCGA-CR-7367-01A-11D-2012-08	6166093	126220060	71802370	45	34247											
ASTE1	28990	broad.mit.edu	37	chr3	130742943	130742943	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaatcctttccacttcaCtgaaagctagaggctgagga	12	12	8	9	0	1	3	1	2	0	1	3	4	3	4	2	2	1	2	2	2	4	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:130742943C>A	ENST00000264992.3	-	3	1649	c.1208G>T	c.(1207-1209)aGt>aTt	p.S403I	ASTE1_ENST00000514044.1_Missense_Mutation_p.S403I	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	403					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTCCACTTCACTGAAAGCTAG	0.428													48	106					6.7651e-33	1.57728e-32	1	0	A	130742943	C	A	130742943	3	1	194	1	0	0	0	0	1	0	0	0	1066	565	20	4	847	4	ASTE1	3	130742943	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	4522883	130742943	67279487	46	34248											
TM4SF4	7104	broad.mit.edu	37	chr3	149216509	149216509	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcccctatatcaccaacagGgattatctcaatgatgaggc	12	10	8	11	0	2	2	2	2	1	0	4	3	3	3	3	2	1	0	3	2	5	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:149216509G>C	ENST00000305354.4	+	4	1306	c.401_splice	c.e4-1	p.G134_splice		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	134						integral to membrane		p.G134G(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCACCAACAGGGATTATCTCA	0.448													4	35					0	0	0	0	C	149216509	G	C	149216509	5	2	194	1	0	0	0	0	0	0	1	0	16064	1246	43	4	416	4	TM4SF4	3	149216509	Splice_Site	SNP	G	TCGA-CR-7367-01A-11D-2012-08	18473566	149216509	48805921	47	34249											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	43					0	0	0	0	G	178952085	A	G	178952085	3	3	194	1	0	0	0	0	1	0	0	0	11985	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	29735576	178952085	19070345	48	34250											
FAM131A	131408	broad.mit.edu	37	chr3	184059698	184059698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcctgtgagtacatgctggGgtctcccctttcttcccttg	3	16	9	13	0	2	1	0	1	2	0	5	1	4	1	4	2	2	2	4	2	1	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:184059698G>A	ENST00000310585.4	+	1	1441	c.77G>A	c.(76-78)gGg>gAg	p.G26E	FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000450976.1_Intron|FAM131A_ENST00000453072.1_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	26						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACATGCTGGGGTCTCCCCTT	0.547													67	127					0	0	0	0	A	184059698	G	A	184059698	3	1	194	1	0	0	0	0	1	0	0	0	5480	1247	43	4		4	FAM131A	3	184059698	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	5107613	184059698	13962732	49	34251											
WHSC1	7468	broad.mit.edu	37	chr4	1955057	1955057	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactttttgttagggattcActcatgtttcgtgtgtaaag	9	18	9	5	1	2	0	2	0	0	0	3	1	2	1	0	1	1	3	0	1	4	7			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:1955057A>T	ENST00000382895.3	+	14	2575	c.2144A>T	c.(2143-2145)cAc>cTc	p.H715L	WHSC1_ENST00000382891.5_Missense_Mutation_p.H715L|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.H63L|WHSC1_ENST00000508803.1_Missense_Mutation_p.H715L|WHSC1_ENST00000382892.2_Missense_Mutation_p.H715L	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	715					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TTAGGGATTCACTCATGTTTC	0.403			T	IGH@	MM								10	87					0	0	0	0	T	1955057	A	T	1955057	3	4	194	1	0	0	0	0	1	0	0	0	17458	159	6	5	2262	5	WHSC1	4	1955057	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08		1955057	189199219	50	34252											
TBC1D14	57533	broad.mit.edu	37	chr4	7026838	7026848	+	Frame_Shift_Del	DEL	TCCTGAAGCTG	TCCTGAAGCTG	-																															gttccgcacggccctgggcaTcctgaagctgttcgaggaca																										TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:7026838_7026848delTCCTGAAGCTG	ENST00000409757.4	+	13	1989_1999	c.1865_1875delTCCTGAAGCTG	c.(1864-1875)afs	p.ILKL622fs	TBC1D14_ENST00000410031.1_Frame_Shift_Del_p.ILKL394fs|TBC1D14_ENST00000451522.2_Frame_Shift_Del_p.ILKL342fs|TBC1D14_ENST00000448507.1_Frame_Shift_Del_p.ILKL622fs|TBC1D14_ENST00000446947.2_Frame_Shift_Del_p.ILKL269fs	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	622						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GCCCTGGGCATCCTGAAGCTGTTCGAGGACA	0.588													19	88	---	---	---	---					-	7026848	TCCTGAAGCTG	-	7026838	7	5	194	1	0	1	0	1	0	0	0	0	15694	1435	50	0	1918	0	TBC1D14	4	7026838	Frame_Shift_Del	DEL	TCCTGAAGCTG	TCGA-CR-7367-01A-11D-2012-08	5071781	7026838	184127438	51	34253											
SCFD2	152579	broad.mit.edu	37	chr4	53751945	53751945	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaacgatgccacaagaTctttgaccattttcacttca	11	13	5	12	1	4	2	3	1	1	1	4	3	4	2	2	0	2	1	2	0	2	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:53751945T>C	ENST00000401642.3	-	8	2064	c.1931A>G	c.(1930-1932)gAt>gGt	p.D644G	SCFD2_ENST00000388940.4_Missense_Mutation_p.D599G	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	644					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGCCACAAGATCTTTGACCAT	0.532													10	87					0	0	0	0	C	53751945	T	C	53751945	3	2	194	1	0	0	0	0	1	0	0	0	13976	1435	50	5	131	5	SCFD2	4	53751945	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	46725107	53751945	137402331	52	34254											
UGT2B4	7363	broad.mit.edu	37	chr4	70359477	70359477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaacatttggtaagagtggGtgaggaaattgaaaatccca	15	10	11	5	0	1	3	1	2	0	1	2	4	2	4	1	3	1	1	1	3	5	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:70359477G>T	ENST00000305107.6	-	2	850	c.804C>A	c.(802-804)caC>caA	p.H268Q	UGT2B4_ENST00000381096.3_Missense_Mutation_p.H132Q|UGT2B4_ENST00000512583.1_Missense_Mutation_p.H268Q|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	268					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GTAAGAGTGGGTGAGGAAATT	0.423													40	88					4.32679e-17	9.66088e-17	1	0	T	70359477	G	T	70359477	3	4	194	1	0	0	0	0	1	0	0	0	17057	1252	44	4	802	4	UGT2B4	4	70359477	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	16607532	70359477	120794799	53	34255											
SLC4A4	8671	broad.mit.edu	37	chr4	72423471	72423471	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgatgcctctgaagcatCagcctgacttcatctacctg	8	13	7	13	0	5	3	2	3	3	0	5	3	5	3	3	0	4	1	3	0	2	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:72423471C>T	ENST00000340595.3	+	19	2870	c.2674C>T	c.(2674-2676)Cag>Tag	p.Q892*	SLC4A4_ENST00000264485.5_Nonsense_Mutation_p.Q936*|SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.Q852*|SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.Q936*	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	936						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TCTGAAGCATCAGCCTGACTT	0.507													15	41					0	0	0	0	T	72423471	C	T	72423471	4	4	194	1	0	0	0	0	0	1	0	0	14744	827	29	2	3009	2	SLC4A4	4	72423471	Nonsense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	2063994	72423471	118730805	54	34256											
NPFFR2	10886	broad.mit.edu	37	chr4	73012719	73012719	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgtgtggtctaccctttTaaaccaaagctcactatcaa	12	12	6	11	0	3	0	2	0	1	0	3	0	3	0	2	1	3	1	2	1	6	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:73012719T>G	ENST00000308744.6	+	4	857	c.759T>G	c.(757-759)ttT>ttG	p.F253L	NPFFR2_ENST00000395999.1_Missense_Mutation_p.F154L|NPFFR2_ENST00000358749.3_Missense_Mutation_p.F151L|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	253					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)			TCTACCCTTTTAAACCAAAGC	0.388													13	169					0	0	0	0	G	73012719	T	G	73012719	3	3	194	1	0	0	0	0	1	0	0	0	10648	1751	61	5	779	5	NPFFR2	4	73012719	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	589248	73012719	118141557	55	34257											
FAM175A	84142	broad.mit.edu	37	chr4	84384670	84384670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgaatctgtgctcctCtccttttctcaatttctcgt	4	18	5	14	1	4	1	1	1	4	0	8	1	5	1	3	0	2	1	3	0	2	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:84384670C>A	ENST00000321945.7	-	8	881	c.773G>T	c.(772-774)aGa>aTa	p.R258I	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Missense_Mutation_p.R209I	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	258					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CTGTGCTCCTCTCCTTTTCTC	0.333													10	66					7.48243e-07	1.51807e-06	1	0	A	84384670	C	A	84384670	3	1	194	1	0	0	0	0	1	0	0	0	5538	913	32	2	464	2	FAM175A	4	84384670	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	11371951	84384670	106769606	56	34258											
MAPK10	5602	broad.mit.edu	37	chr4	86988972	86988972	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctgggaagagggaatctggGaagagtttggggaaggtgag	11	7	21	2	0	1	3	0	1	1	2	1	7	1	7	0	6	0	2	0	6	4	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:86988972G>C	ENST00000395169.3	-	10	1545	c.825C>G	c.(823-825)ttC>ttG	p.F275L	MAPK10_ENST00000395157.3_Missense_Mutation_p.F168L|MAPK10_ENST00000449047.2_Missense_Mutation_p.F168L|MAPK10_ENST00000359221.3_Missense_Mutation_p.F313L|MAPK10_ENST00000395161.2_Missense_Mutation_p.F313L|MAPK10_ENST00000395166.1_Missense_Mutation_p.F275L|MAPK10_ENST00000395160.3_Missense_Mutation_p.F168L|MAPK10_ENST00000361569.2_Missense_Mutation_p.F313L	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	313	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GGGAATCTGGGAAGAGTTTGG	0.488													10	27					0	0	0	0	C	86988972	G	C	86988972	3	2	194	1	0	0	0	0	1	0	0	0	9341	1165	41	2	480	2	MAPK10	4	86988972	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	2604302	86988972	104165304	57	34259											
HERC6	55008	broad.mit.edu	37	chr4	89318075	89318075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggaccaagtgacacaagCaagccaactcatccggaggc	14	4	10	13	1	1	1	1	1	0	0	2	3	2	3	3	3	3	1	3	3	4	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:89318075C>A	ENST00000380265.5	+	7	1143	c.960C>A	c.(958-960)agC>agA	p.S320R	HERC6_ENST00000264346.7_Missense_Mutation_p.S320R|HERC6_ENST00000273960.3_Intron	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	320					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GTGACACAAGCAAGCCAACTC	0.453													7	141					0.00307968	0.0058019	1	0	A	89318075	C	A	89318075	3	1	194	1	0	0	0	0	1	0	0	0	7112	709	25	4	783	4	HERC6	4	89318075	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	2329103	89318075	101836201	58	34260											
ADH4	127	broad.mit.edu	37	chr4	100062731	100062731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcccaatactttccaCaatacctgcagcctcatggc	9	10	6	16	0	1	0	1	0	0	0	3	0	3	0	5	2	4	1	5	2	4	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:100062731C>T	ENST00000508393.1	-	4	445	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	ADH4_ENST00000265512.7_Missense_Mutation_p.V75M|ADH4_ENST00000423445.1_Missense_Mutation_p.V94M|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.V94M			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	75					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	ATACTTTCCACAATACCTGCA	0.403													5	24					0	0	0	0	T	100062731	C	T	100062731	3	4	194	1	0	0	0	0	1	0	0	0	310	478	17	4	947	4	ADH4	4	100062731	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	10744656	100062731	91091545	59	34261											
ADH1A	124	broad.mit.edu	37	chr4	100205642	100205642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaggcgaggctgcatcaaTtttggctactgcattttcat	9	14	10	8	1	2	1	2	0	0	1	2	2	2	1	0	3	3	4	0	3	3	6			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:100205642T>C	ENST00000209668.2	-	5	594	c.481A>G	c.(481-483)Att>Gtt	p.I161V	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	161					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GCTGCATCAATTTTGGCTACT	0.493													9	43					0	0	0	0	C	100205642	T	C	100205642	3	2	194	1	0	0	0	0	1	0	0	0	307	1493	52	5	666	5	ADH1A	4	100205642	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	142911	100205642	90948634	60	34262											
LEF1	51176	broad.mit.edu	37	chr4	109088757	109088757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttcagactcgttcaccaagGaagacttgatgtcagctaaa	13	11	8	9	1	3	3	3	1	0	2	4	4	3	4	1	1	1	2	1	1	4	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:109088757G>A	ENST00000379951.2	-	1	1355	c.167C>T	c.(166-168)tCc>tTc	p.S56F	LEF1_ENST00000265165.1_Missense_Mutation_p.S56F|LEF1_ENST00000438313.2_Missense_Mutation_p.S56F|LEF1-AS1_ENST00000436413.1_RNA	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	56	CTNNB1-binding (By similarity).				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GTTCACCAAGGAAGACTTGAT	0.577													19	89					0	0	0	0	A	109088757	G	A	109088757	3	1	194	1	0	0	0	0	1	0	0	0	8767	1174	41	2	1173	2	LEF1	4	109088757	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	8883115	109088757	82065519	61	34263											
COL25A1	84570	broad.mit.edu	37	chr4	110222987	110222987	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggcggattcgagagcggcGatcctcgcctggaggtcgtt	5	10	16	10	6	0	1	0	0	0	1	4	5	1	3	2	5	1	1	2	5	0	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:110222987G>A	ENST00000399132.1	-	2	719	c.189C>T	c.(187-189)atC>atT	p.I63I	COL25A1_ENST00000399127.1_Silent_p.I63I|COL25A1_ENST00000399126.1_Silent_p.I63I	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	63						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CGAGAGCGGCGATCCTCGCCT	0.607													11	74					0	0	0	0	A	110222987	G	A	110222987	2	1	194	1	0	0	0	0	0	0	0	1	3714	1048	37	1		1	COL25A1	4	110222987	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08	1134230	110222987	80931289	62	34264											
DCHS2	54798	broad.mit.edu	37	chr4	155158157	155158157	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agattataggatttgactgtGaattcaggggcataattgtt	12	15	11	3	0	1	3	1	2	0	1	1	4	1	4	0	3	0	2	0	3	4	7			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:155158157G>A	ENST00000357232.3	-	25	6281	c.6282C>T	c.(6280-6282)ttC>ttT	p.F2094F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2094	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATTTGACTGTGAATTCAGGGG	0.418													17	90					0	0	0	0	A	155158157	G	A	155158157	2	1	194	1	0	0	0	0	0	0	0	1	4320	1281	45	2		2	DCHS2	4	155158157	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08	44935170	155158157	35996119	63	34265											
SEMA5A	9037	broad.mit.edu	37	chr5	9066574	9066574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtcgctagaacagtacCgcatttcgattctctgtctt	7	14	8	12	4	2	1	0	0	2	1	5	2	2	1	2	0	3	3	2	0	3	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:9066574C>T	ENST00000382496.5	-	17	2923	c.2258G>A	c.(2257-2259)cGg>cAg	p.R753Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	753	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.R753L(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGAACAGTACCGCATTTCGAT	0.537													29	128					0	0	0	0	T	9066574	C	T	9066574	3	4	194	1	0	0	0	0	1	0	0	0	14124	652	23	1	994	1	SEMA5A	5	9066574	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08		9066574	171848686	64	34266											
CDH6	1004	broad.mit.edu	37	chr5	31323025	31323025	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattgtcagttacaacgaCgaaggtggtggagaggagga	14	7	15	5	2	1	1	1	0	0	1	1	6	1	3	0	5	3	1	0	5	4	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:31323025C>T	ENST00000265071.2	+	12	2248	c.1983C>T	c.(1981-1983)gaC>gaT	p.D661D		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	661					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTACAACGACGAAGGTGGTG	0.493													12	66					0	0	0	0	T	31323025	C	T	31323025	2	4	194	1	0	0	0	0	0	0	0	1	3143	535	19	1		1	CDH6	5	31323025	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	22256451	31323025	149592235	65	34267											
OSMR	9180	broad.mit.edu	37	chr5	38933399	38933399	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttggagacaaggacagTctcccaacaaacccagtaga	15	7	9	10	0	1	2	0	0	1	2	2	4	1	3	2	2	2	2	2	2	4	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:38933399T>C	ENST00000274276.3	+	18	3195	c.2793T>C	c.(2791-2793)agT>agC	p.S931S		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	931					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)					ACAAGGACAGTCTCCCAACAA	0.483													19	171					0	0	0	0	C	38933399	T	C	38933399	2	2	194	1	0	0	0	0	0	0	0	1	11363	1664	58	5		5	OSMR	5	38933399	Silent	SNP	T	TCGA-CR-7367-01A-11D-2012-08	7610374	38933399	141981861	66	34268											
ANKRD55	79722	broad.mit.edu	37	chr5	55407004	55407004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggagacctcttggtgaccaGgccggacactgagcaatctg	9	7	13	12	2	2	3	0	2	2	1	2	5	2	4	3	4	1	1	3	4	1	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:55407004G>T	ENST00000341048.4	-	10	1722	c.1571C>A	c.(1570-1572)cCt>cAt	p.P524H	ANKRD55_ENST00000504958.2_Missense_Mutation_p.P481H|ANKRD55_ENST00000434982.2_Missense_Mutation_p.P236H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	523										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TTGGTGACCAGGCCGGACACT	0.463													22	168					2.21704e-12	4.79789e-12	1	0	T	55407004	G	T	55407004	3	4	194	1	0	0	0	0	1	0	0	0	680	1000	35	4	285	4	ANKRD55	5	55407004	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	16473605	55407004	125508256	67	34269											
MCCC2	64087	broad.mit.edu	37	chr5	70898414	70898414	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgtgaaaaaacaattacgGgcccaagaaattgccatgca	17	7	8	9	1	0	2	0	1	0	1	0	2	0	2	2	1	4	1	2	1	7	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:70898414G>A	ENST00000340941.6	+	5	594	c.465G>A	c.(463-465)cgG>cgA	p.R155R	MCCC2_ENST00000323375.8_Silent_p.R155R|MCCC2_ENST00000509358.2_Silent_p.R155R|MCCC2_ENST00000510895.2_3'UTR	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	155	Carboxyltransferase.		R -> Q (in MCC2 deficiency; mild form).		leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AACAATTACGGGCCCAAGAAA	0.418													5	43					0	0	0	0	A	70898414	G	A	70898414	2	1	194	1	0	0	0	0	0	0	0	1	9444	1219	43	4		4	MCCC2	5	70898414	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08	15491410	70898414	110016846	68	34270											
MTX3	345778	broad.mit.edu	37	chr5	79282892	79282892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgtactttgtaaagaggtGcaagaaaaccaaaaacatag	19	7	8	7	1	0	2	0	0	0	2	0	2	0	2	2	1	4	3	2	1	9	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:79282892G>T	ENST00000512560.1	-	6	556	c.437C>A	c.(436-438)gCa>gAa	p.A146E	MTX3_ENST00000509852.1_Missense_Mutation_p.A207E|MTX3_ENST00000512528.1_Missense_Mutation_p.A207E	NM_001167741.1	NP_001161213.1	Q5HYI7	MTX3_HUMAN	metaxin 3	207					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		GTAAAGAGGTGCAAGAAAACC	0.398													17	44					2.35188e-11	5.03804e-11	1	0	T	79282892	G	T	79282892	3	4	194	1	0	0	0	0	1	0	0	0	10039	1319	46	4	330	4	MTX3	5	79282892	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	8384478	79282892	101632368	69	34271											
WNT8A	7478	broad.mit.edu	37	chr5	137426351	137426351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggccaagtatgaccaggcGctgaaaattgaaatggataa	17	7	11	6	1	0	3	0	3	0	0	0	4	0	4	2	3	0	2	2	3	7	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:137426351G>A	ENST00000506684.1	+	5	935	c.699G>A	c.(697-699)gcG>gcA	p.A233A	WNT8A_ENST00000398754.1_Silent_p.A215A			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	215					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATGACCAGGCGCTGAAAATTG	0.587													8	41					0	0	0	0	A	137426351	G	A	137426351	2	1	194	1	0	0	0	0	0	0	0	1	17492	1074	38	1		1	WNT8A	5	137426351	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08	58143459	137426351	43488909	70	34272											
PCDHA1	56147	broad.mit.edu	37	chr5	140165973	140165973	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggagcggccagctccactActcgatcccggaggaagcca	9	4	14	14	3	0	0	0	0	0	0	3	4	2	3	4	5	4	1	4	5	2	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:140165973A>C	ENST00000504120.2	+	1	98	c.98A>C	c.(97-99)tAc>tCc	p.Y33S	PCDHA1_ENST00000378133.3_Missense_Mutation_p.Y33S|PCDHA1_ENST00000394633.3_Missense_Mutation_p.Y33S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTCCACTACTCGATCCCG	0.652													12	80					0	0	0	0	C	140165973	A	C	140165973	3	2	194	1	0	0	0	0	1	0	0	0	11590	391	14	5	100	5	PCDHA1	5	140165973	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	2739622	140165973	40749287	71	34273											
PCDHA6	56142	broad.mit.edu	37	chr5	140209865	140209865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcggcgccacccaccgaggGcgcgtgcacggcggacaagc	7	2	15	17	7	0	0	0	0	0	0	1	2	0	1	3	4	2	1	3	4	1	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:140209865G>A	ENST00000529310.1	+	1	2303	c.2189G>A	c.(2188-2190)gGc>gAc	p.G730D	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACCGAGGGCGCGTGCACG	0.682													31	55					0	0	0	0	A	140209865	G	A	140209865	3	1	194	1	0	0	0	0	1	0	0	0	11599	1203	42	4	2191	4	PCDHA6	5	140209865	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	43892	140209865	40705395	72	34274											
PCDHAC2	56134	broad.mit.edu	37	chr5	140346785	140346785	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attggacatcaacgacaactCaccgcgtttcccgcggccca	10	7	8	16	5	2	0	2	0	0	0	3	2	3	1	3	2	2	1	3	2	2	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:140346785C>G	ENST00000289269.5	+	1	966	c.434C>G	c.(433-435)tCa>tGa	p.S145*	PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		145	Cadherin 1.				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)			AACGACAACTCACCGCGTTTC	0.632													8	29					0	0	0	0	G	140346785	C	G	140346785	4	3	194	1	0	0	0	0	0	1	0	0	11604	838	29	2	436	2	PCDHAC2	5	140346785	Nonsense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	136920	140346785	40568475	73	34275											
PCDHB10	56126	broad.mit.edu	37	chr5	140572211	140572211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgtccttggcaggttctgGgtttggacgttattcggtga	5	15	15	6	2	1	1	0	1	1	0	3	2	2	2	1	5	0	4	1	5	1	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:140572211G>T	ENST00000239446.4	+	1	270	c.86G>T	c.(85-87)gGg>gTg	p.G29V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		29					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGTTCTGGGTTTGGACGT	0.502													22	112					1.1804e-14	2.59441e-14	1	0	T	140572211	G	T	140572211	3	4	194	1	0	0	0	0	1	0	0	0	11606	1232	43	4	88	4	PCDHB10	5	140572211	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	225426	140572211	40343049	74	34276											
ARSI	340075	broad.mit.edu	37	chr5	149676799	149676799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccgttgggacattagcCtggtgttgagtttacggaaa	10	12	13	6	2	0	2	0	1	0	1	1	4	1	4	2	3	2	3	2	3	3	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:149676799C>T	ENST00000328668.7	-	2	2267	c.1688G>A	c.(1687-1689)aGg>aAg	p.R563K		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	563						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACATTAGCCTGGTGTTGAG	0.532													16	95					0	0	0	0	T	149676799	C	T	149676799	3	4	194	1	0	0	0	0	1	0	0	0	998	681	24	4	25	4	ARSI	5	149676799	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	9104588	149676799	31238461	75	34277											
HIST1H4F	8361	broad.mit.edu	37	chr6	26240858	26240858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctggagaatgtgatacggGacgccgtaacctacacggag	11	7	13	10	4	0	2	0	1	0	1	1	5	1	4	3	3	3	1	3	3	4	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:26240858G>T	ENST00000377745.2	+	1	298	c.205G>T	c.(205-207)Gac>Tac	p.D69Y		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	69					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGTGATACGGGACGCCGTAAC	0.587													31	27					5.45727e-16	1.21209e-15	1	0	T	26240858	G	T	26240858	3	4	194	1	0	0	0	0	1	0	0	0	7220	1174	41	2	207	2	HIST1H4F	6	26240858	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08		26240858	144874209	76	34278											
HIST1H3I	8354	broad.mit.edu	37	chr6	27840062	27840062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcggcgctttgccgccggtgGacttgcgagctgtttgcttt	2	13	15	11	5	0	0	0	0	0	0	0	2	0	1	2	3	4	4	2	3	0	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:27840062G>A	ENST00000328488.2	-	1	37	c.32C>T	c.(31-33)tCc>tTc	p.S11F		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	11					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCGCCGGTGGACTTGCGAGC	0.587													5	36					0	0	0	0	A	27840062	G	A	27840062	3	1	194	1	0	0	0	0	1	0	0	0	7213	1174	41	2	382	2	HIST1H3I	6	27840062	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	1599204	27840062	143275005	77	34279											
ITPR3	3710	broad.mit.edu	37	chr6	33653966	33653966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcaatgaggacaacgtggGcctcgtcatccagaccttgg	10	8	11	12	2	2	2	2	1	0	1	4	3	3	3	3	3	1	0	3	3	2	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:33653966G>A	ENST00000374316.5	+	43	6864	c.5804G>A	c.(5803-5805)gGc>gAc	p.G1935D	ITPR3_ENST00000605930.1_Missense_Mutation_p.G1935D			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1935					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GACAACGTGGGCCTCGTCATC	0.612													6	22					0	0	0	0	A	33653966	G	A	33653966	3	1	194	1	0	0	0	0	1	0	0	0	7975	1203	42	4	5970	4	ITPR3	6	33653966	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	5813904	33653966	137461101	78	34280											
DNAH8	1769	broad.mit.edu	37	chr6	38831662	38831662	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccaggtcttgcacagtcGggttcctggggctgttttga	5	13	14	9	1	1	1	0	1	1	0	3	1	2	1	2	4	2	4	2	4	0	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:38831662G>T	ENST00000359357.3	+	43	5927	c.5673G>T	c.(5671-5673)tcG>tcT	p.S1891S	DNAH8_ENST00000449981.2_Silent_p.S2108S|DNAH8_ENST00000441566.1_Silent_p.S1891S					dynein, axonemal, heavy chain 8									p.S1891S(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGCACAGTCGGGTTCCTGGG	0.358													10	51					0.00010058	0.000197417	1	0	T	38831662	G	T	38831662	2	4	194	1	0	0	0	0	0	0	0	1	4643	1103	39	3		3	DNAH8	6	38831662	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08	5177696	38831662	132283405	79	34281											
ZNF318	24149	broad.mit.edu	37	chr6	43304974	43304974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcattccctgagggacCatattgtcttcaattacctg	9	13	8	11	0	3	1	2	1	1	0	4	2	4	2	3	2	1	1	3	2	3	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:43304974C>T	ENST00000361428.2	-	10	6839	c.6762G>A	c.(6760-6762)atG>atA	p.M2254I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2254					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCTGAGGGACCATATTGTCTT	0.463													15	30					0	0	0	0	T	43304974	C	T	43304974	3	4	194	1	0	0	0	0	1	0	0	0	17931	594	21	4	81	4	ZNF318	6	43304974	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	4473312	43304974	127810093	80	34282											
DST	667	broad.mit.edu	37	chr6	56495121	56495121	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacagtttagtttcataGagttttacgagggcttctgc	9	15	9	8	1	3	1	2	0	1	1	3	2	3	1	0	1	2	4	0	1	3	7			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:56495121G>T	ENST00000370754.5	-	30	4103	c.4104C>A	c.(4102-4104)ctC>ctA	p.L1368L	DST_ENST00000244364.6_Silent_p.L864L|DST_ENST00000370788.2_Silent_p.L1190L|DST_ENST00000421834.2_Silent_p.L1190L|DST_ENST00000446842.2_Silent_p.L864L|DST_ENST00000312431.6_Silent_p.L1190L|DST_ENST00000361203.3_Silent_p.L1190L|DST_ENST00000370765.6_Silent_p.L864L|DST_ENST00000370769.4_Silent_p.L1190L|DST_ENST00000518935.1_Silent_p.L864L			Q03001	DYST_HUMAN	dystonin	1190					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGTTTCATAGAGTTTTACGA	0.323													14	73					0.000151284	0.000295565	1	0	T	56495121	G	T	56495121	2	4	194	1	0	0	0	0	0	0	0	1	4819	929	33	2		2	DST	6	56495121	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08	13190147	56495121	114619946	81	34283											
FUT9	10690	broad.mit.edu	37	chr6	96651372	96651372	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccatcaccgagacatcaGttgggatctgacaaatttac	13	10	8	10	1	3	2	2	1	1	1	4	5	4	3	2	1	1	1	2	1	2	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:96651372G>C	ENST00000302103.5	+	3	667	c.341G>C	c.(340-342)aGt>aCt	p.S114T		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	114					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CGAGACATCAGTTGGGATCTG	0.473													6	54					0	0	0	0	C	96651372	G	C	96651372	3	2	194	1	0	0	0	0	1	0	0	0	6159	1029	36	4	343	4	FUT9	6	96651372	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	40156251	96651372	74463695	82	34284											
SIM1	6492	broad.mit.edu	37	chr6	100895160	100895160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtgaggacatagttgaCgctgacgatacagtgtggcc	10	9	13	9	3	1	3	1	3	0	0	1	5	1	4	1	2	1	2	1	2	2	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:100895160C>T	ENST00000369208.3	-	9	1764	c.982G>A	c.(982-984)Gtc>Atc	p.V328I	SIM1_ENST00000262901.4_Missense_Mutation_p.V328I			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	328	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ACATAGTTGACGCTGACGATA	0.627													4	31					0	0	0	0	T	100895160	C	T	100895160	3	4	194	1	0	0	0	0	1	0	0	0	14411	536	19	1	1334	1	SIM1	6	100895160	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	4243788	100895160	70219907	83	34285											
TFB1M	51106	broad.mit.edu	37	chr6	155581464	155581464	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacattctgaaccacttttTccaccagcttgaatggctgc	10	13	6	12	0	1	2	0	2	1	0	2	2	2	2	3	1	4	2	3	1	3	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:155581464T>C	ENST00000367166.4	-	6	792	c.737A>G	c.(736-738)gAa>gGa	p.E246G		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AACCACTTTTTCCACCAGCTT	0.438													3	37					0	0	0	0	C	155581464	T	C	155581464	3	2	194	1	0	0	0	0	1	0	0	0	15887	1783	62	5	311	5	TFB1M	6	155581464	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	54686304	155581464	15533603	84	34286											
RAC1	5879	broad.mit.edu	37	chr7	6441634	6441634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcccatcacctatccgcagGgtctagccatggctaaggag	9	8	10	14	1	2	0	1	0	1	0	4	1	4	1	4	3	1	2	4	3	3	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:6441634G>A	ENST00000348035.4	+	5	637	c.424G>A	c.(424-426)Ggt>Agt	p.G142S	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.G161S	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	142					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CTATCCGCAGGGTCTAGCCAT	0.463													5	154					0	0	0	0	A	6441634	G	A	6441634	3	1	194	1	0	0	0	0	1	0	0	0	13056	1232	43	4	503	4	RAC1	7	6441634	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08		6441634	152697029	85	34287											
THSD7A	221981	broad.mit.edu	37	chr7	11485699	11485699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaattaccatggctgttaCatctagatgtttccacaagc	11	14	7	9	0	1	2	0	1	1	1	2	2	2	2	2	1	3	3	2	1	5	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:11485699C>A	ENST00000423059.3	-	13	3304	c.3053G>T	c.(3052-3054)tGt>tTt	p.C1018F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1018	TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATGGCTGTTACATCTAGATGT	0.423										HNSCC(18;0.044)			89	168					3.10062e-51	7.26924e-51	1	0	A	11485699	C	A	11485699	3	1	194	1	0	0	0	0	1	0	0	0	15973	478	17	4	1980	4	THSD7A	7	11485699	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	5044065	11485699	147652964	86	34288											
SEPT7	989	broad.mit.edu	37	chr7	35930338	35930338	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactatgagaactacagaagCagaaaacttgcagctgtgac	16	7	9	9	0	0	4	0	2	0	3	0	5	0	4	0	0	6	3	0	0	6	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:35930338C>T	ENST00000494488.2	+	10	891	c.891C>T	c.(889-891)agC>agT	p.S297S	SEPT7_ENST00000350320.6_Silent_p.S310S|SEPT7_ENST00000399035.3_Silent_p.S310S|SEPT7_ENST00000435235.1_Silent_p.S258S|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000399034.2_Silent_p.S312S			Q16181	SEPT7_HUMAN	septin 7	311					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						ACTACAGAAGCAGAAAACTTG	0.333													4	34					0	0	0	0	T	35930338	C	T	35930338	2	4	194	1	0	0	0	0	0	0	0	1	14156	709	25	4		4	SEPT7	7	35930338	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	24444639	35930338	123208325	87	34289											
VPS41	27072	broad.mit.edu	37	chr7	38765891	38765891	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcctggtccacggttcttAgcactgcagatgttgcagaa	8	12	10	11	1	1	2	0	0	1	2	3	2	3	2	2	2	3	5	2	2	2	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:38765891A>C	ENST00000310301.4	-	29	2574	c.2520T>G	c.(2518-2520)gcT>gcG	p.A840A	VPS41_ENST00000395969.2_Silent_p.A815A	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	840					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CACGGTTCTTAGCACTGCAGA	0.363													17	24					0	0	0	0	C	38765891	A	C	38765891	2	2	194	1	0	0	0	0	0	0	0	1	17306	407	15	5		5	VPS41	7	38765891	Silent	SNP	A	TCGA-CR-7367-01A-11D-2012-08	2835553	38765891	120372772	88	34290											
POM121L12	285877	broad.mit.edu	37	chr7	53104113	53104113	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctcagtttttgtgatgAtgcttggccttccgtgctgg	4	15	13	9	1	1	2	1	2	0	0	2	3	2	2	3	2	3	3	3	2	0	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:53104113A>T	ENST00000408890.4	+	1	765	c.749A>T	c.(748-750)gAt>gTt	p.D250V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	250										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TTTTGTGATGATGCTTGGCCT	0.627													19	97					0	0	0	0	T	53104113	A	T	53104113	3	4	194	1	0	0	0	0	1	0	0	0	12313	333	12	5	751	5	POM121L12	7	53104113	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	14338222	53104113	106034550	89	34291											
ZNF117	51351	broad.mit.edu	37	chr7	64438853	64438853	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttaaaggctttgccacAttctccacatttgtagggtt	8	15	9	9	0	1	0	0	0	1	0	2	0	1	0	2	3	1	4	2	3	3	6			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:64438853A>T	ENST00000282869.5	-	4	2380	c.1096T>A	c.(1096-1098)Tgt>Agt	p.C366S		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	366						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GCTTTGCCACATTCTCCACAT	0.398													11	65					0	0	0	0	T	64438853	A	T	64438853	3	4	194	1	0	0	0	0	1	0	0	0	17812	217	8	5	359	5	ZNF117	7	64438853	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	11334740	64438853	94699810	90	34292											
GRM3	2913	broad.mit.edu	37	chr7	86416016	86416016	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtggccagcgacggctGgggcgcgcaggagagcatca	7	4	19	11	4	1	1	1	0	0	1	1	3	1	1	1	6	2	3	1	6	0	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:86416016G>A	ENST00000361669.2	+	3	2007	c.908G>A	c.(907-909)tGg>tAg	p.W303*	GRM3_ENST00000439827.1_Nonsense_Mutation_p.W303*|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Nonsense_Mutation_p.W175*|GRM3_ENST00000394720.2_Nonsense_Mutation_p.W301*	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	303					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGCGACGGCTGGGGCGCGCAG	0.687													9	38					0	0	0	0	A	86416016	G	A	86416016	4	1	194	1	0	0	0	0	0	1	0	0	6848	1357	47	4	914	4	GRM3	7	86416016	Nonsense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	21977163	86416016	72722647	91	34293											
GNG11	2791	broad.mit.edu	37	chr7	93555441	93555441	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaataaagaactatattgaAgaacgttctggagaggatcc	17	9	10	5	1	1	4	0	1	1	3	2	7	2	5	1	2	2	1	1	2	8	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:93555441A>T	ENST00000248564.4	+	2	574	c.135A>T	c.(133-135)gaA>gaT	p.E45D		NM_004126.3	NP_004117.1	P61952	GBG11_HUMAN	guanine nucleotide binding protein (G protein), gamma 11	45					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			breast(1)|central_nervous_system(1)|kidney(1)|lung(2)|skin(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ACTATATTGAAGAACGTTCTG	0.348													22	81					0	0	0	0	T	93555441	A	T	93555441	3	4	194	1	0	0	0	0	1	0	0	0	6575	69	3	5	141	5	GNG11	7	93555441	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	7139425	93555441	65583222	92	34294											
CADPS2	93664	broad.mit.edu	37	chr7	122153341	122153341	+	Frame_Shift_Del	DEL	A	A	-																															acgttttttccatcttttccAaaccttctgtccaagggcat																										TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:122153341delA	ENST00000334010.7	-	9	1925	c.1504delT	c.(1504-1506)ggfs	p.W502fs	CADPS2_ENST00000313070.7_Frame_Shift_Del_p.W502fs|CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000412584.2_Frame_Shift_Del_p.W502fs|CADPS2_ENST00000449022.2_Frame_Shift_Del_p.W502fs	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	502	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CATCTTTTCCAAACCTTCTGT	0.323													2	4	---	---	---	---					-	122153341	A	-	122153341	7	5	194	1	0	1	0	1	0	0	0	0	2596	130	5	0	2518	0	CADPS2	7	122153341	Frame_Shift_Del	DEL	A	TCGA-CR-7367-01A-11D-2012-08	28597900	122153341	36985322	93	34295											
EXOC4	60412	broad.mit.edu	37	chr7	133160110	133160110	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactgagtacttggatatgaAaaatactcgtacggcctctg	13	11	9	8	2	1	2	0	2	1	0	2	3	1	3	1	2	4	2	1	2	7	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:133160110A>T	ENST00000253861.4	+	8	1240	c.1211A>T	c.(1210-1212)aAa>aTa	p.K404I	EXOC4_ENST00000539845.1_Missense_Mutation_p.K303I|EXOC4_ENST00000393161.2_Missense_Mutation_p.K404I	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	404					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TTGGATATGAAAAATACTCGT	0.363													10	99					0	0	0	0	T	133160110	A	T	133160110	3	4	194	1	0	0	0	0	1	0	0	0	5343	14	1	5	1241	5	EXOC4	7	133160110	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	11006769	133160110	25978553	94	34296											
KIAA1549	57670	broad.mit.edu	37	chr7	138583773	138583773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccattttgttaatcaGgtccgaagacttgactgcac	10	12	10	9	1	1	2	1	1	0	1	3	4	3	2	2	2	1	2	2	2	2	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:138583773G>A	ENST00000440172.1	-	9	3823	c.3775C>T	c.(3775-3777)Ctg>Ttg	p.L1259L	KIAA1549_ENST00000422774.1_Silent_p.L1259L|KIAA1549_ENST00000242365.4_Silent_p.L1209L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1259						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTGTTAATCAGGTCCGAAGAC	0.493			O	BRAF	pilocytic astrocytoma								15	133					0	0	0	0	A	138583773	G	A	138583773	2	1	194	1	0	0	0	0	0	0	0	1	8295	991	35	4		4	KIAA1549	7	138583773	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08	5423663	138583773	20554890	95	34297											
TBXAS1	6916	broad.mit.edu	37	chr7	139715537	139715537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagattcacacgggaggCagctcaggactgcgaggtgc	9	6	14	12	2	3	1	3	0	0	1	3	4	3	3	1	4	3	2	1	4	0	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:139715537C>A	ENST00000263552.6	+	15	1782	c.1244C>A	c.(1243-1245)gCa>gAa	p.A415E	TBXAS1_ENST00000416849.2_Missense_Mutation_p.A461E|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A460E|TBXAS1_ENST00000425687.1_Missense_Mutation_p.A347E|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A415E|TBXAS1_ENST00000448866.1_Missense_Mutation_p.A414E|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A415E|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A414E|TBXAS1_ENST00000336425.5_Missense_Mutation_p.A414E	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	414					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					ACACGGGAGGCAGCTCAGGAC	0.642													8	80					0.000274275	0.000528512	1	0	A	139715537	C	A	139715537	3	1	194	1	0	0	0	0	1	0	0	0	15758	710	25	4	1428	4	TBXAS1	7	139715537	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	1131764	139715537	19423126	96	34298											
PARP12	64761	broad.mit.edu	37	chr7	139724438	139724438	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttggaggaggtggtgtaCtggatgacatactctgggta	8	11	17	5	0	1	1	0	1	1	0	1	4	1	4	0	7	2	3	0	7	3	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:139724438C>T	ENST00000263549.3	-	12	2901	c.2028G>A	c.(2026-2028)caG>caA	p.Q676Q		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	676	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AGGTGGTGTACTGGATGACAT	0.572													10	52					0	0	0	0	T	139724438	C	T	139724438	2	4	194	1	0	0	0	0	0	0	0	1	11528	564	20	4		4	PARP12	7	139724438	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	8901	139724438	19414225	97	34299											
TRPV5	56302	broad.mit.edu	37	chr7	142612693	142612693	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccccaacgatgctcaccaGctcccccaccagcctgatga	10	5	7	19	1	1	2	1	2	0	0	2	3	2	2	7	0	5	2	7	0	1	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:142612693G>A	ENST00000265310.1	-	9	1516	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	390					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ATGCTCACCAGCTCCCCCACC	0.547													5	40					0	0	0	0	A	142612693	G	A	142612693	2	1	194	1	0	0	0	0	0	0	0	1	16694	962	34	4		4	TRPV5	7	142612693	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08	2888255	142612693	16525970	98	34300											
PAXIP1	22976	broad.mit.edu	37	chr7	154738231	154738231	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaacgtacctatgcctcTggcaaaatattctcggcata	12	10	9	10	2	2	0	0	0	2	0	3	1	2	1	2	3	3	3	2	3	7	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:154738231T>G	ENST00000404141.1	-	19	3278	c.3124A>C	c.(3124-3126)Aga>Cga	p.R1042R	PAXIP1_ENST00000397192.1_Silent_p.R1042R|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1042	BRCT 6.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CCTATGCCTCTGGCAAAATAT	0.413													3	46					0	0	0	0	G	154738231	T	G	154738231	2	3	194	1	0	0	0	0	0	0	0	1	11558	1588	55	5		5	PAXIP1	7	154738231	Silent	SNP	T	TCGA-CR-7367-01A-11D-2012-08	12125538	154738231	4400432	99	34301											
WRN	7486	broad.mit.edu	37	chr8	30977861	30977861	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatggaatcatattatcagGagattggtagagctggtcgt	12	12	12	5	1	2	2	2	0	0	2	3	4	2	3	0	4	1	2	0	4	4	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr8:30977861G>T	ENST00000298139.5	+	21	2800	c.2551G>T	c.(2551-2553)Gag>Tag	p.E851*		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	851	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ATATTATCAGGAGATTGGTAG	0.393			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				18	102					3.41278e-10	7.20097e-10	1	0	T	30977861	G	T	30977861	4	4	194	1	0	0	0	0	0	1	0	0	17498	1175	41	2	2629	2	WRN	8	30977861	Nonsense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08		30977861	115386161	100	34302											
PXDNL	137902	broad.mit.edu	37	chr8	52284568	52284568	+	Missense_Mutation	SNP	C	C	A																															gtcaccattgtcacaaagcaCccggctcagggacgcctgct																										TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr8:52284568C>A	ENST00000356297.4	-	19	3866	c.3766G>T	c.(3766-3768)Gtg>Ttg	p.V1256L	PXDNL_ENST00000543296.1_Missense_Mutation_p.V1256L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1256					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCACAAAGCACCCGGCTCAGG	0.488													18	17					3.52763e-06	7.05526e-06	1	0	A	52284568	C	A	52284568	3	1	194	1	0	0	0	0	1	0	0	0	12930	507	18	4	645	4	PXDNL	8	52284568	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	21306707	52284568	94079454	101	34303	258	2									
PXDNL	137902	broad.mit.edu	37	chr8	52284569	52284569	+	Silent	SNP	C	C	A																															tcaccattgtcacaaagcacCcggctcagggacgcctgctt																										TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr8:52284569C>A	ENST00000356297.4	-	19	3865	c.3765G>T	c.(3763-3765)cgG>cgT	p.R1255R	PXDNL_ENST00000543296.1_Silent_p.R1255R	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1255					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACAAAGCACCCGGCTCAGGG	0.493													17	19					3.45872e-05	6.85248e-05	1	0	A	52284569	C	A	52284569	2	1	194	1	0	0	0	0	0	0	0	1	12930	610	22	4		4	PXDNL	8	52284569	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	1	52284569	94079453	102	34304	258	2									
SLC26A7	115111	broad.mit.edu	37	chr8	92401664	92401664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggagtctccatgcttgttGaggtatttatggaacttgtg	7	16	12	6	0	1	1	0	1	1	0	2	3	1	3	1	3	2	3	1	3	3	6			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr8:92401664G>A	ENST00000276609.3	+	16	2013	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	SLC26A7_ENST00000309536.2_Missense_Mutation_p.E592K|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.E592K	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	592	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CATGCTTGTTGAGGTATTTAT	0.413													57	107					0	0	0	0	A	92401664	G	A	92401664	3	1	194	1	0	0	0	0	1	0	0	0	14610	1291	45	2	1832	2	SLC26A7	8	92401664	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	40117095	92401664	53962358	103	34305											
CSMD3	114788	broad.mit.edu	37	chr8	113241018	113241018	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataaaatccaaatcctgcaAatataagtgcaaaaaaaggc	21	7	6	7	0	0	0	0	0	0	0	2	1	2	0	2	1	2	2	2	1	9	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr8:113241018A>G	ENST00000297405.5	-	70	11175	c.10931T>C	c.(10930-10932)tTt>tCt	p.F3644S	CSMD3_ENST00000455883.2_Missense_Mutation_p.F3475S|CSMD3_ENST00000343508.3_Missense_Mutation_p.F3604S|CSMD3_ENST00000352409.3_Missense_Mutation_p.F3574S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3644						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATCCTGCAAATATAAGTGC	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			38	34					0	0	0	0	G	113241018	A	G	113241018	3	3	194	1	0	0	0	0	1	0	0	0	3978	14	1	5	200	5	CSMD3	8	113241018	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	20839354	113241018	33123004	104	34306											
CDC14B	8555	broad.mit.edu	37	chr9	99329078	99329078	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctcggctaccaaagctgcCcccgcgccctcccggctcat	6	6	8	21	4	1	0	1	0	0	0	3	0	2	0	6	2	3	3	6	2	2	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr9:99329078C>T	ENST00000375242.3	-	1	458	c.21G>A	c.(19-21)ggG>ggA	p.G7G	CDC14B_ENST00000375241.1_Intron|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000375240.3_Intron|CDC14B_ENST00000463569.1_Intron|CDC14B_ENST00000375236.1_Intron	NM_001077181.1	NP_001070649.1	O60729	CC14B_HUMAN	cell division cycle 14B	0					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CCAAAGCTGCCCCCGCGCCCT	0.731													7	8					0	0	0	0	T	99329078	C	T	99329078	2	4	194	1	0	0	0	0	0	0	0	1	3086	610	22	4		4	CDC14B	9	99329078	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08		99329078	41884353	105	34307											
SLC46A2	57864	broad.mit.edu	37	chr9	115652267	115652267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggctgggtttggccaccGactcagggacctttagcacc	6	9	12	14	1	1	0	1	0	0	0	1	2	1	1	5	4	1	3	5	4	1	3	rs140881150		TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr9:115652267G>A	ENST00000374228.4	-	1	926	c.695C>T	c.(694-696)tCg>tTg	p.S232L		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	232						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						TTTGGCCACCGACTCAGGGAC	0.607													13	41					0	0	0	0	A	115652267	G	A	115652267	3	1	194	1	0	0	0	0	1	0	0	0	14733	1059	37	1	748	1	SLC46A2	9	115652267	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	16323189	115652267	25561164	106	34308											
ASTN2	23245	broad.mit.edu	37	chr9	119976974	119976974	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacgtcgctgggcgtacagCgccacggtgaacaccagcag	10	4	13	14	5	0	1	0	1	0	0	1	1	0	1	2	2	5	3	2	2	3	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr9:119976974C>A	ENST00000313400.4	-	3	778	c.678G>T	c.(676-678)gcG>gcT	p.A226A	ASTN2_ENST00000361209.2_Silent_p.A226A|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.A226A			O75129	ASTN2_HUMAN	astrotactin 2	226						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGGCGTACAGCGCCACGGTGA	0.602													25	29					4.7796e-09	9.98511e-09	1	0	A	119976974	C	A	119976974	2	1	194	1	0	0	0	0	0	0	0	1	1069	755	27	3		3	ASTN2	9	119976974	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	4324707	119976974	21236457	107	34309											
UCK1	83549	broad.mit.edu	37	chr9	134404963	134404963	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgtgcatcaaatcattatCaaaggcatctgcagggttgg	11	11	10	9	0	4	0	3	0	1	0	4	0	4	0	1	3	2	4	1	3	3	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr9:134404963C>G	ENST00000372215.4	-	3	370	c.277G>C	c.(277-279)Gat>Cat	p.D93H	UCK1_ENST00000372210.3_Missense_Mutation_p.D84H|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372211.3_Missense_Mutation_p.D98H|UCK1_ENST00000372208.3_Missense_Mutation_p.D93H	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	93					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		AAATCATTATCAAAGGCATCT	0.547													17	91					0	0	0	0	G	134404963	C	G	134404963	3	3	194	1	0	0	0	0	1	0	0	0	17019	826	29	2	576	2	UCK1	9	134404963	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	14427989	134404963	6808468	108	34310											
WDR5	11091	broad.mit.edu	37	chr9	137017113	137017113	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttcgaagtcgcatctGggacaccgcctcaggccagt	7	10	11	13	3	2	0	1	0	1	0	4	2	2	1	3	2	1	2	3	2	1	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr9:137017113G>A	ENST00000358625.3	+	9	764	c.593G>A	c.(592-594)tGg>tAg	p.W198*	WDR5_ENST00000425041.1_Nonsense_Mutation_p.W198*	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	198					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		AGTCGCATCTGGGACACCGCC	0.557													17	160					0	0	0	0	A	137017113	G	A	137017113	4	1	194	1	0	0	0	0	0	1	0	0	17399	1357	47	4	623	4	WDR5	9	137017113	Nonsense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	2612150	137017113	4196318	109	34311											
ADARB2	105	broad.mit.edu	37	chr10	1405839	1405839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgctaccgcgaagaccGgggcatgcaccgggcccgtc	7	3	13	18	6	0	1	0	0	0	1	1	2	0	1	6	3	2	3	6	3	2	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr10:1405839G>T	ENST00000381312.1	-	3	786	c.461C>A	c.(460-462)cCg>cAg	p.P154Q		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	154	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CGCGAAGACCGGGGCATGCAC	0.692													3	28					0.00024832	0.000482908	1	0	T	1405839	G	T	1405839	3	4	194	1	0	0	0	0	1	0	0	0	283	1116	39	3	1790	3	ADARB2	10	1405839	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08		1405839	134128908	110	34312											
ACBD5	91452	broad.mit.edu	37	chr10	27493384	27493384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttaccttctccttctttgaTagtataaatacaccaaccac	12	14	2	13	0	2	1	0	1	2	0	3	1	2	1	4	0	3	1	4	0	7	8			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr10:27493384T>C	ENST00000396271.3	-	12	1676	c.1550A>G	c.(1549-1551)tAt>tGt	p.Y517C	ACBD5_ENST00000375897.3_Missense_Mutation_p.Y340C|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.Y482C|ACBD5_ENST00000375888.1_Missense_Mutation_p.Y526C|ACBD5_ENST00000375901.1_Missense_Mutation_p.Y408C	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	526					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCTTCTTTGATAGTATAAATA	0.413													6	32					0	0	0	0	C	27493384	T	C	27493384	3	2	194	1	0	0	0	0	1	0	0	0	125	1406	49	5	35	5	ACBD5	10	27493384	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	26087545	27493384	108041363	111	34313											
ASAH2	56624	broad.mit.edu	37	chr10	52005019	52005019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgtcctgtgcagtcagctCgtccaacaccaatatggtag	9	11	9	12	1	1	0	1	0	0	0	4	0	3	0	3	1	3	3	3	1	4	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr10:52005019C>T	ENST00000395526.3	-	2	322	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	ASAH2_ENST00000329428.6_Missense_Mutation_p.R89Q|ASAH2_ENST00000447815.1_Missense_Mutation_p.R108Q	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	108					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GCAGTCAGCTCGTCCAACACC	0.448													34	210					0	0	0	0	T	52005019	C	T	52005019	3	4	194	1	0	0	0	0	1	0	0	0	1011	884	31	1	2095	1	ASAH2	10	52005019	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	24511635	52005019	83529728	112	34314											
UNC5B	219699	broad.mit.edu	37	chr10	73057778	73057778	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catccgccagaagatatgcaAcagcctagatgcccccaact	13	6	7	15	1	0	3	0	0	0	3	1	3	1	3	5	0	5	1	5	0	5	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr10:73057778A>G	ENST00000335350.6	+	16	3019	c.2603A>G	c.(2602-2604)aAc>aGc	p.N868S	UNC5B_ENST00000373192.4_Missense_Mutation_p.N857S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	868	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AAGATATGCAACAGCCTAGAT	0.572													8	55					0	0	0	0	G	73057778	A	G	73057778	3	3	194	1	0	0	0	0	1	0	0	0	17088	43	2	5	2665	5	UNC5B	10	73057778	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	21052759	73057778	62476969	113	34315											
MKI67	4288	broad.mit.edu	37	chr10	129913914	129913914	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaggacattttcttttTgtgattttacatccaactct	9	19	5	8	0	2	1	0	1	2	0	3	2	3	2	1	1	2	1	1	1	3	7			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr10:129913914T>G	ENST00000368654.3	-	7	1133	c.758A>C	c.(757-759)cAa>cCa	p.Q253P	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	253					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATTTTCTTTTTGTGATTTTAC	0.373													4	55					0	0	0	0	G	129913914	T	G	129913914	3	3	194	1	0	0	0	0	1	0	0	0	9667	1812	63	5	9048	5	MKI67	10	129913914	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	56856136	129913914	5620833	114	34316											
MGMT	4255	broad.mit.edu	37	chr10	131565165	131565165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgaaggccaccggttGgggaagccaggcttgggagg	8	5	18	10	1	0	1	0	1	0	0	0	3	0	3	4	7	1	2	4	7	2	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr10:131565165G>T	ENST00000306010.7	+	5	653	c.621G>T	c.(619-621)ttG>ttT	p.L207F		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	207										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GCCACCGGTTGGGGAAGCCAG	0.662								Direct reversal of damage					8	25					1.06961e-07	2.20184e-07	1	0	T	131565165	G	T	131565165	3	4	194	1	0	0	0	0	1	0	0	0	9626	1339	47	4	639	4	MGMT	10	131565165	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	1651251	131565165	3969582	115	34317											
LRRC56	115399	broad.mit.edu	37	chr11	554064	554064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcggtggtcgacagacctgCagtccagggggcgtcggctc	5	6	17	13	5	0	1	0	0	0	1	4	2	1	1	2	5	1	2	2	5	0	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:554064C>A	ENST00000270115.7	+	14	1917	c.1417C>A	c.(1417-1419)Cag>Aag	p.Q473K		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	473										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACAGACCTGCAGTCCAGGGG	0.701													17	96					9.16793e-09	1.8965e-08	1	0	A	554064	C	A	554064	3	1	194	1	0	0	0	0	1	0	0	0	9076	711	25	4	1459	4	LRRC56	11	554064	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08		554064	134452452	116	34318											
OR51V1	283111	broad.mit.edu	37	chr11	5221490	5221490	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaattttgataattctggaAttagtcaggatggaggaata	14	13	10	4	0	2	1	1	1	1	0	2	5	2	5	1	4	0	0	1	4	6	6			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:5221490A>C	ENST00000321255.1	-	1	440	c.441T>G	c.(439-441)aaT>aaG	p.N147K		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAATTCTGGAATTAGTCAGGA	0.398													6	47					0	0	0	0	C	5221490	A	C	5221490	3	2	194	1	0	0	0	0	1	0	0	0	11178	98	4	5	527	5	OR51V1	11	5221490	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	4667426	5221490	129785026	117	34319											
ANO3	63982	broad.mit.edu	37	chr11	26529781	26529781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacatttgaaaagaacctcaGagcagaaggcttgatgttgg	14	9	11	7	0	1	5	1	2	0	3	1	5	1	5	1	2	2	3	1	2	4	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:26529781G>A	ENST00000256737.3	+	5	1415	c.563G>A	c.(562-564)aGa>aAa	p.R188K	ANO3_ENST00000537978.1_Missense_Mutation_p.R172K|ANO3_ENST00000531568.1_Missense_Mutation_p.R42K|ANO3_ENST00000531646.1_Missense_Mutation_p.R188K|ANO3_ENST00000525139.1_Missense_Mutation_p.R172K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	188						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AAGAACCTCAGAGCAGAAGGC	0.318													7	43					0	0	0	0	A	26529781	G	A	26529781	3	1	194	1	0	0	0	0	1	0	0	0	697	942	33	2	581	2	ANO3	11	26529781	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	21308291	26529781	108476735	118	34320											
OR5M11	219487	broad.mit.edu	37	chr11	56310671	56310671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcagagactggagttcCgggcaatctgtgagcccaag	13	6	13	9	1	1	2	0	1	1	1	2	4	2	3	2	2	2	3	2	2	4	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:56310671C>T	ENST00000528616.2	-	1	86	c.63G>A	c.(61-63)ccG>ccA	p.P21P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACTGGAGTTCCGGGCAATCTG	0.458													10	110					0	0	0	0	T	56310671	C	T	56310671	2	4	194	1	0	0	0	0	0	0	0	1	11245	639	23	1		1	OR5M11	11	56310671	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	29780890	56310671	78695845	119	34321											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57085295	57085295	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaggataactcacatcAgcaggtagctccgagctggc	11	7	12	11	1	2	0	2	0	0	0	3	3	3	2	1	4	4	4	1	4	2	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:57085295A>G	ENST00000532437.1	-	3	1106	c.795T>C	c.(793-795)gcT>gcC	p.A265A	TNKS1BP1_ENST00000358252.3_Silent_p.A265A			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	265	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AACTCACATCAGCAGGTAGCT	0.512													8	23					0	0	0	0	G	57085295	A	G	57085295	2	3	194	1	0	0	0	0	0	0	0	1	16414	175	7	5		5	TNKS1BP1	11	57085295	Silent	SNP	A	TCGA-CR-7367-01A-11D-2012-08	774624	57085295	77921221	120	34322											
CTNND1	1500	broad.mit.edu	37	chr11	57582974	57582974	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaacaacacccttgatggTaaattctctttatatactgc	12	13	7	9	0	1	1	0	1	1	0	2	2	1	2	1	2	4	1	1	2	7	7			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:57582974T>C	ENST00000524630.1	+	18	3303		c.e18+2		CTNND1_ENST00000529873.1_Splice_Site|CTNND1_ENST00000361332.4_Splice_Site|CTNND1_ENST00000530094.1_Splice_Site|CTNND1_ENST00000526772.1_Splice_Site|CTNND1_ENST00000529526.1_Splice_Site|CTNND1_ENST00000526938.1_Splice_Site|CTNND1_ENST00000526357.1_Splice_Site|CTNND1_ENST00000529986.1_Splice_Site|CTNND1_ENST00000358694.6_Splice_Site|CTNND1_ENST00000525902.1_Splice_Site|CTNND1_ENST00000528621.1_Splice_Site|CTNND1_ENST00000534579.1_Splice_Site|CTNND1_ENST00000360682.6_Splice_Site|CTNND1_ENST00000527467.1_Splice_Site|CTNND1_ENST00000415361.2_Splice_Site|CTNND1_ENST00000361391.6_Splice_Site|CTNND1_ENST00000532844.1_Splice_Site|CTNND1_ENST00000399050.4_Splice_Site|CTNND1_ENST00000399039.4_Splice_Site|CTNND1_ENST00000532245.1_Splice_Site|CTNND1_ENST00000533667.1_Splice_Site|CTNND1_ENST00000361796.4_Splice_Site|CTNND1_ENST00000528232.1_Splice_Site|CTNND1_ENST00000531014.1_Splice_Site|CTNND1_ENST00000426142.2_Splice_Site|CTNND1_ENST00000529919.1_Splice_Site|CTNND1_ENST00000532649.1_Splice_Site|CTNND1_ENST00000428599.2_Splice_Site|CTNND1_ENST00000532463.1_Splice_Site|CTNND1_ENST00000530748.1_Splice_Site|CTNND1_ENST00000532787.1_Splice_Site			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1						adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CCCTTGATGGTAAATTCTCTT	0.413													3	20					0	0	0	0	C	57582974	T	C	57582974	5	2	194	1	0	0	0	0	0	0	1	0	4051	1652	57	5	2876	5	CTNND1	11	57582974	Splice_Site	SNP	T	TCGA-CR-7367-01A-11D-2012-08	497679	57582974	77423542	121	34323											
B3GAT3	26229	broad.mit.edu	37	chr11	62388037	62388038	+	Frame_Shift_Ins	INS	-	-	G																															cagggggctgggcaggggcaINSgggggtggccgtcggagttc																										TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:62388037_62388038insG	ENST00000531383.1	-	2	394_395	c.188_189insC	c.(187-189)cgcfs	p.R63fs	B3GAT3_ENST00000265471.5_Frame_Shift_Ins_p.R63fs|B3GAT3_ENST00000534026.1_Frame_Shift_Ins_p.R63fs			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	63					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GGGCAGGGGCAGGGGGTGGCCG	0.634													7	44	---	---	---	---					G	62388038	-	G	62388037	7	5	194	1	0	1	1	0	0	0	0	0	1259	175	7	0	834	0	B3GAT3	11	62388037	Frame_Shift_Ins	INS	-	TCGA-CR-7367-01A-11D-2012-08	4805063	62388037	72618479	122	34324											
NUMA1	4926	broad.mit.edu	37	chr11	71729904	71729904	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcggttctcagctagcTccagctccagctcatcccta	6	11	8	16	1	2	0	2	0	1	0	6	0	5	0	3	1	5	6	3	1	2	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:71729904T>A	ENST00000393695.3	-	10	1038	c.707A>T	c.(706-708)gAg>gTg	p.E236V	NUMA1_ENST00000351960.6_Missense_Mutation_p.E236V|NUMA1_ENST00000358965.6_Missense_Mutation_p.E236V|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	236					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTCAGCTAGCTCCAGCTCCAG	0.562			T	RARA	APL								22	110					0	0	0	0	A	71729904	T	A	71729904	3	1	194	1	0	0	0	0	1	0	0	0	10821	1551	54	5	5712	5	NUMA1	11	71729904	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	9341867	71729904	63276612	123	34325											
RELT	84957	broad.mit.edu	37	chr11	73106507	73106507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaaccgctatgtggtcCggctaagtgagagcaacctg	11	7	14	9	2	0	2	0	1	0	2	1	4	1	2	3	3	3	3	3	3	4	2	rs139368769	byFrequency	TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:73106507C>T	ENST00000064780.2	+	11	1525	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	RELT_ENST00000393580.2_Missense_Mutation_p.R422W	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	422						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						ctatgtggtccggctaagtga	0.647													17	82					0	0	0	0	T	73106507	C	T	73106507	3	4	194	1	0	0	0	0	1	0	0	0	13303	643	23	1	1302	1	RELT	11	73106507	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	1376603	73106507	61900009	124	34326											
PIWIL4	143689	broad.mit.edu	37	chr11	94341767	94341767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttaaagtccctgatggtgGtcggtattgatgtctgtaaa	10	14	12	5	1	1	2	0	2	1	0	3	2	2	2	1	3	0	3	1	3	5	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:94341767G>A	ENST00000299001.6	+	15	2069	c.1858G>A	c.(1858-1860)Gtc>Atc	p.V620I	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	620	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCTGATGGTGGTCGGTATTGA	0.388													33	102					0	0	0	0	A	94341767	G	A	94341767	3	1	194	1	0	0	0	0	1	0	0	0	12032	1261	44	4	1916	4	PIWIL4	11	94341767	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	21235260	94341767	40664749	125	34327											
OR6X1	390260	broad.mit.edu	37	chr11	123624803	123624803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccaggagctcagggccaGctgcaggcagagtttgctgg	8	6	15	12	0	1	1	1	0	0	1	1	2	1	2	2	4	4	6	2	4	0	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:123624803G>T	ENST00000327930.2	-	1	450	c.424C>A	c.(424-426)Ctg>Atg	p.L142M		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTCAGGGCCAGCTGCAGGCAG	0.507													12	74					6.81908e-15	1.50662e-14	1	0	T	123624803	G	T	123624803	3	4	194	1	0	0	0	0	1	0	0	0	11283	962	34	4	516	4	OR6X1	11	123624803	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	29283036	123624803	11381713	126	34328											
ANO2	57101	broad.mit.edu	37	chr12	5685021	5685021	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaactgaacctcctggTcaaactgtgagttttctggc	9	12	10	10	0	2	3	1	2	1	1	3	3	3	3	2	2	4	2	2	2	3	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:5685021T>C	ENST00000356134.5	-	25	2674	c.2603A>G	c.(2602-2604)gAc>gGc	p.D868G	ANO2_ENST00000546188.1_Missense_Mutation_p.D868G|ANO2_ENST00000327087.8_Missense_Mutation_p.D867G	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	872						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AACCTCCTGGTCAAACTGTGA	0.493													5	40					0	0	0	0	C	5685021	T	C	5685021	3	2	194	1	0	0	0	0	1	0	0	0	696	1667	58	5	408	5	ANO2	12	5685021	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08		5685021	128166874	127	34329											
ATN1	1822	broad.mit.edu	37	chr12	7048173	7048173	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccctgcggcctgacatgtCctatgctgagcggctggcag	6	8	14	13	2	0	2	0	2	0	0	1	2	1	2	3	3	4	3	3	3	1	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:7048173C>A	ENST00000356654.4	+	7	3284	c.3047C>A	c.(3046-3048)tCc>tAc	p.S1016Y	ATN1_ENST00000396684.2_Missense_Mutation_p.S1016Y	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1016					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCTGACATGTCCTATGCTGAG	0.667													23	78					7.92952e-12	1.70727e-11	1	0	A	7048173	C	A	7048173	3	1	194	1	0	0	0	0	1	0	0	0	1115	855	30	2	3069	2	ATN1	12	7048173	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	1363152	7048173	126803722	128	34330											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	RNA	INS	-	-	C																															acaagatcggaggccgtagtINSttattgtggtgctggaaggg																								rs36063533		TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	28	---	---	---	---					C	7080213	-	C	7080212	6	5	194	0	1	1	1	0	0	0	0	0	5128	1722	60	0		0	EMG1	12	7080212	RNA	INS	-	TCGA-CR-7367-01A-11D-2012-08	32039	7080212	126771683	129	34331											
CD69	969	broad.mit.edu	37	chr12	9907188	9907188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctggagacttaccagttGttaaattctttgccatttga	9	17	7	8	0	2	2	0	1	2	1	2	3	2	2	2	1	2	2	2	1	3	7			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:9907188G>T	ENST00000228434.3	-	4	566	c.486C>A	c.(484-486)aaC>aaA	p.N162K	CD69_ENST00000536709.1_Missense_Mutation_p.N162K	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	162	C-type lectin.					integral to plasma membrane	sugar binding|transmembrane receptor activity			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						CTTACCAGTTGTTAAATTCTT	0.413													38	123					9.80977e-26	2.27457e-25	1	0	T	9907188	G	T	9907188	3	4	194	1	0	0	0	0	1	0	0	0	3060	1368	48	4	121	4	CD69	12	9907188	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	2826976	9907188	123944707	130	34332											
CAPRIN2	65981	broad.mit.edu	37	chr12	30877333	30877333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctggagtagctgaaggcGgttgtgacgttggaattgca	9	11	15	6	2	0	2	0	2	0	0	0	4	0	4	1	4	3	5	1	4	4	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:30877333G>T	ENST00000251071.5	-	10	2708	c.1958C>A	c.(1957-1959)cCg>cAg	p.P653Q	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P653Q|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P320Q|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.P653Q|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P653Q	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	653					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGCTGAAGGCGGTTGTGACGT	0.388													4	26					0.000602214	0.00114993	1	0	T	30877333	G	T	30877333	3	4	194	1	0	0	0	0	1	0	0	0	2661	1116	39	3	1461	3	CAPRIN2	12	30877333	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	20970145	30877333	102974562	131	34333											
ADAMTS20	80070	broad.mit.edu	37	chr12	43822059	43822059	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttactgatccccatggtccGgttctccactggtttcctct	4	15	7	15	1	2	1	0	1	2	0	6	1	5	1	5	3	1	2	5	3	1	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:43822059G>A	ENST00000389420.3	-	26	3929	c.3930C>T	c.(3928-3930)acC>acT	p.T1310T	ADAMTS20_ENST00000553158.1_Silent_p.T1310T|ADAMTS20_ENST00000395541.2_Silent_p.T428T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1310	TSP type-1 9.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCCATGGTCCGGTTCTCCACT	0.358													10	92					0	0	0	0	A	43822059	G	A	43822059	2	1	194	1	0	0	0	0	0	0	0	1	266	1103	39	1		1	ADAMTS20	12	43822059	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08	12944726	43822059	90029836	132	34334											
ITGB7	3695	broad.mit.edu	37	chr12	53590515	53590515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgaatggtgactggcagcGctccagccgggtggggcagg	6	6	19	10	2	0	2	0	2	0	0	1	2	1	2	2	6	2	4	2	6	1	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:53590515G>A	ENST00000267082.5	-	6	895	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	ITGB7_ENST00000550743.2_Missense_Mutation_p.R222C|ITGB7_ENST00000338737.4_Missense_Mutation_p.R222C|ITGB7_ENST00000422257.3_Missense_Mutation_p.R222C	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	222	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACTGGCAGCGCTCCAGCCGG	0.617													8	15					0	0	0	0	A	53590515	G	A	53590515	3	1	194	1	0	0	0	0	1	0	0	0	7953	1087	38	1	1776	1	ITGB7	12	53590515	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	9768456	53590515	80261380	133	34335											
ESYT1	23344	broad.mit.edu	37	chr12	56528126	56528126	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccctcctctacatctccagGctgtctacagtaccaactgc	8	11	5	17	0	3	0	0	0	3	0	6	0	5	0	4	1	5	2	4	1	4	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:56528126G>A	ENST00000394048.5	+	15	1810	c.1545_splice	c.e15-1	p.A516_splice	ESYT1_ENST00000541590.1_Splice_Site_p.A526_splice|ESYT1_ENST00000267113.4_Splice_Site_p.A526_splice	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	516	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						ACATCTCCAGGCTGTCTACAG	0.502													35	104					0	0	0	0	A	56528126	G	A	56528126	5	1	194	1	0	0	0	0	0	0	1	0	5302	1217	42	4	1634	4	ESYT1	12	56528126	Splice_Site	SNP	G	TCGA-CR-7367-01A-11D-2012-08	2937611	56528126	77323769	134	34336											
LRP1	4035	broad.mit.edu	37	chr12	57604546	57604546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcttcacgggccccaaatGcacccagcaggtgtgtgcgg	7	6	15	13	2	1	0	1	0	0	0	1	0	1	0	3	4	3	3	3	4	1	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:57604546G>A	ENST00000243077.3	+	83	13266	c.12800G>A	c.(12799-12801)tGc>tAc	p.C4267Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4267	EGF-like 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCCCAAATGCACCCAGCAG	0.667													14	90					0	0	0	0	A	57604546	G	A	57604546	3	1	194	1	0	0	0	0	1	0	0	0	9015	1319	46	4	13130	4	LRP1	12	57604546	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	1076420	57604546	76247349	135	34337											
TMBIM4	51643	broad.mit.edu	37	chr12	66531827	66531827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctgatggcagctaatacGtactcttcaggtgacagttt	10	12	11	8	1	2	2	1	2	1	0	2	2	2	2	0	3	3	5	0	3	3	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:66531827G>A	ENST00000358230.3	-	7	750	c.630C>T	c.(628-630)taC>taT	p.Y210Y	TMBIM4_ENST00000286424.7_Silent_p.Y257Y|TMBIM4_ENST00000542724.1_Silent_p.Y179Y|TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000544599.1_Silent_p.Y33Y|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000556010.1_3'UTR	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	210						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		CAGCTAATACGTACTCTTCAG	0.413													25	47					0	0	0	0	A	66531827	G	A	66531827	2	1	194	1	0	0	0	0	0	0	0	1	16076	1140	40	1		1	TMBIM4	12	66531827	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08	8927281	66531827	67320068	136	34338											
ACAD10	80724	broad.mit.edu	37	chr12	112150407	112150407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgaaaaagacgatggaaattCcgaaagattccttgcagaag	17	8	10	6	2	0	4	0	1	0	3	2	7	2	5	2	1	1	1	2	1	5	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:112150407C>T	ENST00000455480.2	+	7	1066	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.P266S|ACAD10_ENST00000549590.1_Missense_Mutation_p.P266S	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	266							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GATGGAAATTCCGAAAGATTC	0.453													30	197					0	0	0	0	T	112150407	C	T	112150407	3	4	194	1	0	0	0	0	1	0	0	0	108	855	30	2	911	2	ACAD10	12	112150407	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	45618580	112150407	21701488	137	34339											
VSIG10	54621	broad.mit.edu	37	chr12	118517157	118517157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaacagactcactgatctGcaccatgcagctggcgcccg	11	6	9	15	2	2	2	1	1	1	1	2	2	2	2	2	1	4	3	2	1	2	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:118517157G>T	ENST00000359236.5	-	4	1195	c.919C>A	c.(919-921)Cag>Aag	p.Q307K		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	307	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TCACTGATCTGCACCATGCAG	0.517													6	64					2.0095e-06	4.03813e-06	1	0	T	118517157	G	T	118517157	3	4	194	1	0	0	0	0	1	0	0	0	17319	1328	46	4	727	4	VSIG10	12	118517157	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	6366750	118517157	15334738	138	34340											
DHX37	57647	broad.mit.edu	37	chr12	125470690	125470690	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttctgcagcactttcttCtccttcttggtcagaggctt	5	18	7	11	0	5	1	1	0	4	1	6	1	5	1	1	2	2	3	1	2	0	7			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:125470690C>T	ENST00000308736.2	-	2	326	c.228G>A	c.(226-228)gaG>gaA	p.E76E		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	76							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCACTTTCTTCTCCTTCTTGG	0.512													77	114					0	0	0	0	T	125470690	C	T	125470690	2	4	194	1	0	0	0	0	0	0	0	1	4547	912	32	2		2	DHX37	12	125470690	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	6953533	125470690	8381205	139	34341											
CDK8	1024	broad.mit.edu	37	chr13	26971342	26971342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaacataaagttaaaccaGatagtaaagcattccacttg	20	9	5	7	0	0	1	0	0	0	1	1	1	1	1	2	0	3	3	2	0	9	6			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr13:26971342G>A	ENST00000381527.3	+	9	1416	c.913G>A	c.(913-915)Gat>Aat	p.D305N	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	305	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGTTAAACCAGATAGTAAAGC	0.318													10	32					0	0	0	0	A	26971342	G	A	26971342	3	1	194	1	0	0	0	0	1	0	0	0	3179	942	33	2	947	2	CDK8	13	26971342	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08		26971342	88198536	140	34342											
DGKH	160851	broad.mit.edu	37	chr13	42803280	42803280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgtgaagcgaattctccagGgaattaaagagcttggaagg	14	9	13	5	1	1	2	0	1	1	1	2	5	1	4	1	3	2	1	1	3	6	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr13:42803280G>A	ENST00000379274.2	+	31	3688	c.3259G>A	c.(3259-3261)Gga>Aga	p.G1087R	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.4_Missense_Mutation_p.G1163E|DGKH_ENST00000337343.4_Missense_Mutation_p.G1207R|DGKH_ENST00000536612.1_Missense_Mutation_p.G1071R|DGKH_ENST00000540693.1_Missense_Mutation_p.G1163E|DGKH_ENST00000538674.1_Missense_Mutation_p.G918E			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	1207					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AATTCTCCAGGGAATTAAAGA	0.373													14	82					0	0	0	0	A	42803280	G	A	42803280	3	1	194	1	0	0	0	0	1	0	0	0	4507	1233	43	4	3737	4	DGKH	13	42803280	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	15831938	42803280	72366598	141	34343											
CLN5	1203	broad.mit.edu	37	chr13	77566263	77566263	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtagacacggcacagggCgccgagatgcggcggggcgc	8	2	20	11	6	0	2	0	0	0	2	0	4	0	2	1	6	1	2	1	6	1	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr13:77566263C>T	ENST00000377453.3	+	1	1469	c.177C>T	c.(175-177)ggC>ggT	p.G59G	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	10					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		CGGCACAGGGCGCCGAGATgc	0.746													7	23					0	0	0	0	T	77566263	C	T	77566263	2	4	194	1	0	0	0	0	0	0	0	1	3574	755	27	1		1	CLN5	13	77566263	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	34762983	77566263	37603615	142	34344											
EDNRB	1910	broad.mit.edu	37	chr13	78477688	78477688	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacagaggctttctgtaTgaaaggcaccagcttacaca	12	9	8	12	0	1	2	0	1	1	1	2	2	2	2	2	2	2	4	2	2	3	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr13:78477688T>C	ENST00000377211.4	-	3	960	c.808A>G	c.(808-810)Ata>Gta	p.I270V	EDNRB_ENST00000334286.5_Missense_Mutation_p.I180V|EDNRB_ENST00000446573.1_Missense_Mutation_p.I180V	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	180					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GCTTTCTGTATGAAAGGCACC	0.443													33	53					0	0	0	0	C	78477688	T	C	78477688	3	2	194	1	0	0	0	0	1	0	0	0	4956	1464	51	5	935	5	EDNRB	13	78477688	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	911425	78477688	36692190	143	34345											
SLITRK1	114798	broad.mit.edu	37	chr13	84453689	84453689	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggaggagttggcatctcGtctcttggaccgctttcggt	4	12	14	11	5	2	0	0	0	2	0	5	3	2	3	1	5	0	3	1	5	0	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr13:84453689G>A	ENST00000377084.2	-	1	2839	c.1954C>T	c.(1954-1956)Cga>Tga	p.R652*		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	652						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTGGCATCTCGTCTCTTGGAC	0.572													13	47					0	0	0	0	A	84453689	G	A	84453689	4	1	194	1	0	0	0	0	0	1	0	0	14830	1153	40	1	140	1	SLITRK1	13	84453689	Nonsense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	5976001	84453689	30716189	144	34346											
ERCC5	2073	broad.mit.edu	37	chr13	103518238	103518238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgcggaagattcgctcCatgaatggcaagatattaat	15	10	10	6	2	0	4	0	1	0	3	2	5	1	5	1	2	1	2	1	2	6	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr13:103518238C>T	ENST00000355739.4	+	9	3599	c.2176C>T	c.(2176-2178)Cat>Tat	p.H726Y	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.P1151L|ERCC5_ENST00000375954.1_5'UTR	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGATTCGCTCCATGAATGGCA	0.483			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				9	48					0	0	0	0	T	103518238	C	T	103518238	3	4	194	1	0	0	0	0	1	0	0	0	5254	594	21	4	2210	4	ERCC5	13	103518238	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	19064549	103518238	11651640	145	34347											
FAM155A	728215	broad.mit.edu	37	chr13	108518140	108518140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatggtggtcatagtcctGgtaagcctcgacgcactgcc	8	9	12	12	2	1	0	1	0	0	0	3	1	2	0	3	3	3	3	3	3	2	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr13:108518140G>T	ENST00000375915.2	-	1	943	c.805C>A	c.(805-807)Cag>Aag	p.Q269K		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	269						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCATAGTCCTGGTAAGCCTCG	0.522													22	119					2.52088e-20	5.78158e-20	1	0	T	108518140	G	T	108518140	3	4	194	1	0	0	0	0	1	0	0	0	5506	1357	47	4	583	4	FAM155A	13	108518140	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	4999902	108518140	6651738	146	34348											
CMA1	1215	broad.mit.edu	37	chr14	24974805	24974805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggctttgcatccgaccGtccataggatacgatgccct	8	9	12	12	3	0	0	0	0	0	0	2	3	2	1	4	3	3	2	4	3	2	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr14:24974805G>A	ENST00000250378.3	-	5	690	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	CMA1_ENST00000206446.4_Missense_Mutation_p.R110W|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	221	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GCATCCGACCGTCCATAGGAT	0.592													9	62					0	0	0	0	A	24974805	G	A	24974805	3	1	194	1	0	0	0	0	1	0	0	0	3604	1144	40	1	86	1	CMA1	14	24974805	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08		24974805	82374735	147	34349											
SYNE2	23224	broad.mit.edu	37	chr14	64496701	64496701	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatactacattggacaattTctccaaggaatttgtcagtt	13	14	7	7	0	2	0	1	0	1	0	3	3	2	2	1	2	2	1	1	2	6	6			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr14:64496701T>C	ENST00000358025.3	+	44	7033	c.6803T>C	c.(6802-6804)tTc>tCc	p.F2268S	SYNE2_ENST00000344113.4_Missense_Mutation_p.F2268S|SYNE2_ENST00000554584.1_Missense_Mutation_p.F2268S|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2268					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGGACAATTTCTCCAAGGAA	0.408													3	35					0	0	0	0	C	64496701	T	C	64496701	3	2	194	1	0	0	0	0	1	0	0	0	15537	1783	62	5	6973	5	SYNE2	14	64496701	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	39521896	64496701	42852839	148	34350											
TLN2	83660	broad.mit.edu	37	chr15	62939593	62939593	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaccatctacagctgtgtaCgatgcgtgtcgagtcattcg	9	11	11	10	4	2	0	1	0	1	0	4	3	2	0	1	0	5	2	1	0	3	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr15:62939593C>G	ENST00000561311.1	+	3	314	c.84C>G	c.(82-84)taC>taG	p.Y28*	TLN2_ENST00000306829.6_Nonsense_Mutation_p.Y28*			Q9Y4G6	TLN2_HUMAN	talin 2	28					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGCTGTGTACGATGCGTGTC	0.488													19	119					0	0	0	0	G	62939593	C	G	62939593	4	3	194	1	0	0	0	0	0	1	0	0	16042	547	19	3	86	3	TLN2	15	62939593	Nonsense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08		62939593	39591799	149	34351											
ATP6V0C	527	broad.mit.edu	37	chr16	2569563	2569563	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcctccagctgggcgcCggcctgagcgtgggcctgag	4	7	16	14	3	0	2	0	2	0	0	2	2	2	2	5	3	3	2	5	3	0	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:2569563C>T	ENST00000330398.4	+	3	519	c.285C>T	c.(283-285)gcC>gcT	p.A95A	ATP6V0C_ENST00000565223.1_Silent_p.A52A|ATP6V0C_ENST00000564973.1_Silent_p.A52A|RP11-20I23.1_ENST00000564543.1_3'UTR|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000568562.1_3'UTR	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	95					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				AGCTGGGCGCCGGCCTGAGCG	0.701													19	39					0	0	0	0	T	2569563	C	T	2569563	2	4	194	1	0	0	0	0	0	0	0	1	1176	639	23	1		1	ATP6V0C	16	2569563	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08		2569563	87785190	150	34352											
ZG16B	124220	broad.mit.edu	37	chr16	2880774	2880774	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacagggctgcgggtgtcTgtaggtcttctcctggtgaa	6	12	14	9	1	4	1	1	1	3	0	5	1	4	1	1	4	1	2	1	4	2	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:2880774T>G	ENST00000382280.3	+	3	319	c.240T>G	c.(238-240)tcT>tcG	p.S80S	ZG16B_ENST00000572863.1_Silent_p.S50S	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	80						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGCGGGTGTCTGTAGGTCTTC	0.547													35	115					0	0	0	0	G	2880774	T	G	2880774	2	3	194	1	0	0	0	0	0	0	0	1	17767	1567	55	5		5	ZG16B	16	2880774	Silent	SNP	T	TCGA-CR-7367-01A-11D-2012-08	311211	2880774	87473979	151	34353											
TXNDC11	51061	broad.mit.edu	37	chr16	11792153	11792153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacagatgttctcagctGtgtagttcaggacctccctg	8	13	9	11	0	2	1	2	0	1	1	4	2	3	2	2	1	2	4	2	1	2	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:11792153G>A	ENST00000356957.3	-	8	1123	c.1016C>T	c.(1015-1017)aCa>aTa	p.T339I	TXNDC11_ENST00000283033.5_Missense_Mutation_p.T312I			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	339					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTTCTCAGCTGTGTAGTTCAG	0.552													12	34					0	0	0	0	A	11792153	G	A	11792153	3	1	194	1	0	0	0	0	1	0	0	0	16888	1377	48	4	1965	4	TXNDC11	16	11792153	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	8911379	11792153	78562600	152	34354											
PDXDC1	23042	broad.mit.edu	37	chr16	15127244	15127244	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacagcccgggagatagaGgagaactcgagggtccgtag	11	4	16	10	3	0	3	0	0	0	3	2	6	1	3	3	3	2	1	3	3	3	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:15127244G>A	ENST00000396410.4	+	19	1897	c.1800G>A	c.(1798-1800)gaG>gaA	p.E600E	PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000563679.1_Silent_p.E618E|PDXDC1_ENST00000450288.2_Silent_p.E572E|PDXDC1_ENST00000569715.1_Silent_p.E573E|PDXDC1_ENST00000325823.7_Silent_p.E585E|PDXDC1_ENST00000447912.2_Silent_p.E509E	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	600					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGGAGATAGAGGAGAACTCGA	0.567													33	101					0	0	0	0	A	15127244	G	A	15127244	2	1	194	1	0	0	0	0	0	0	0	1	11767	991	35	4		4	PDXDC1	16	15127244	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08	3335091	15127244	75227509	153	34355											
TMC7	79905	broad.mit.edu	37	chr16	19058454	19058454	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggagtttgccattccTgataacgtcctggggatagt	9	11	12	9	1	0	1	0	1	0	0	2	3	2	3	3	3	3	2	3	3	2	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:19058454T>C	ENST00000421369.3	+	12	1851	c.1293T>C	c.(1291-1293)ccT>ccC	p.P431P	TMC7_ENST00000304381.5_Silent_p.P541P|TMC7_ENST00000569532.1_Silent_p.P541P	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	541						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTGCCATTCCTGATAACGTCC	0.498													5	335					0	0	0	0	C	19058454	T	C	19058454	2	2	194	1	0	0	0	0	0	0	0	1	16084	1567	55	5		5	TMC7	16	19058454	Silent	SNP	T	TCGA-CR-7367-01A-11D-2012-08	3931210	19058454	71296299	154	34356											
ACSM2A	123876	broad.mit.edu	37	chr16	20486734	20486734	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgggtgcccccattgtttaCcggatgttgctacagcagga	8	11	12	10	1	0	0	0	0	0	0	0	2	0	2	3	3	5	4	3	3	2	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:20486734C>T	ENST00000573854.1	+	7	1059	c.945C>T	c.(943-945)taC>taT	p.Y315Y	ACSM2A_ENST00000417235.2_Silent_p.Y236Y|ACSM2A_ENST00000575690.1_Silent_p.Y315Y|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Silent_p.Y315Y|ACSM2A_ENST00000536134.1_Silent_p.Y87Y|ACSM2A_ENST00000396104.2_Silent_p.Y315Y	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	315					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCATTGTTTACCGGATGTTGC	0.512													26	104					0	0	0	0	T	20486734	C	T	20486734	2	4	194	1	0	0	0	0	0	0	0	1	183	518	18	4		4	ACSM2A	16	20486734	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	1428280	20486734	69868019	155	34357											
GTF3C1	2975	broad.mit.edu	37	chr16	27549582	27549582	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccaggatgcagtaggagAagtcgggcagcttcaggtcg	9	8	16	8	2	1	1	1	0	0	1	4	3	2	2	1	4	2	5	1	4	2	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:27549582A>T	ENST00000356183.4	-	3	542	c.527T>A	c.(526-528)tTc>tAc	p.F176Y	GTF3C1_ENST00000561623.1_Missense_Mutation_p.F176Y	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	176						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCAGTAGGAGAAGTCGGGCAG	0.602													16	93					0	0	0	0	T	27549582	A	T	27549582	3	4	194	1	0	0	0	0	1	0	0	0	6922	246	9	5	5942	5	GTF3C1	16	27549582	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	7062848	27549582	62805171	156	34358											
DOC2A	8448	broad.mit.edu	37	chr16	30018259	30018259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccctgcccctgctccGcctgctccaactgcggggca	4	6	11	20	2	0	0	0	0	0	0	2	0	2	0	7	2	6	4	7	2	1	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:30018259G>A	ENST00000350119.4	-	8	915	c.725C>T	c.(724-726)gCg>gTg	p.A242V	DOC2A_ENST00000564979.1_Missense_Mutation_p.A242V|DOC2A_ENST00000564944.1_Missense_Mutation_p.A242V	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	242	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CCCCTGCTCCGCCTGCTCCAA	0.682													8	22					0	0	0	0	A	30018259	G	A	30018259	3	1	194	1	0	0	0	0	1	0	0	0	4719	1087	38	1	493	1	DOC2A	16	30018259	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	2468677	30018259	60336494	157	34359											
SETD1A	9739	broad.mit.edu	37	chr16	30995053	30995053	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccatcatcgatgccaccaAgtgtggcaacctggccagat	11	7	9	14	1	1	1	1	0	0	1	2	2	1	1	5	2	2	1	5	2	2	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:30995053A>C	ENST00000262519.8	+	18	5596	c.4910A>C	c.(4909-4911)aAg>aCg	p.K1637T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1637	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GATGCCACCAAGTGTGGCAAC	0.652													10	37					0	0	0	0	C	30995053	A	C	30995053	3	2	194	1	0	0	0	0	1	0	0	0	14217	72	3	5	4976	5	SETD1A	16	30995053	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	976794	30995053	59359700	158	34360											
N4BP1	9683	broad.mit.edu	37	chr16	48580115	48580115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccacttcttcccagaGgatcatcgggaaccataaat	12	9	9	11	1	2	1	1	0	1	1	5	4	4	3	3	3	1	0	3	3	3	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:48580115G>T	ENST00000262384.3	-	6	2512	c.2276C>A	c.(2275-2277)cCt>cAt	p.P759H	N4BP1_ENST00000565423.1_Intron	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	759					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TCTTCCCAGAGGATCATCGGG	0.458													20	75					2.89027e-11	6.12911e-11	1	0	T	48580115	G	T	48580115	3	4	194	1	0	0	0	0	1	0	0	0	10179	1000	35	4	422	4	N4BP1	16	48580115	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	17585062	48580115	41774638	159	34361											
SETD6	79918	broad.mit.edu	37	chr16	58552440	58552440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaggagctgaccaccaCactaaaggtaaacggctgaa	16	5	11	9	1	0	4	0	3	0	1	0	5	0	5	2	3	2	3	2	3	6	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:58552440C>T	ENST00000394266.4	+	8	958	c.902C>T	c.(901-903)aCa>aTa	p.T301I	SETD6_ENST00000219315.4_Missense_Mutation_p.T370I|SETD6_ENST00000310682.2_Missense_Mutation_p.T346I			Q8TBK2	SETD6_HUMAN	SET domain containing 6	370					negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						CTGACCACCACACTAAAGGTA	0.443													8	55					0	0	0	0	T	58552440	C	T	58552440	3	4	194	1	0	0	0	0	1	0	0	0	14222	478	17	4	1135	4	SETD6	16	58552440	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	9972325	58552440	31802313	160	34362											
CNTROB	116840	broad.mit.edu	37	chr17	7847811	7847811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagactggcccgggagcaagCgcgagtgtgcgaactgcaga	10	4	16	11	4	0	2	0	0	0	2	0	5	0	3	1	2	5	2	1	2	2	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:7847811C>T	ENST00000380262.3	+	12	2514	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	CNTROB_ENST00000380255.3_Intron|CNTROB_ENST00000563694.1_Missense_Mutation_p.A530V|CNTROB_ENST00000565740.1_Missense_Mutation_p.A530V	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	530	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CGGGAGCAAGCGCGAGTGTGC	0.567													5	30					0	0	0	0	T	7847811	C	T	7847811	3	4	194	1	0	0	0	0	1	0	0	0	3681	768	27	1	1635	1	CNTROB	17	7847811	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08		7847811	73347399	161	34363											
SLFN5	162394	broad.mit.edu	37	chr17	33592632	33592633	+	Frame_Shift_Ins	INS	-	-	A																															caccaaagcaagtgaagtggINSaaaaatataaagacaggctt																										TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:33592632_33592633insA	ENST00000299977.4	+	5	2549_2550	c.2401_2402insA	c.(2401-2403)aaafs	p.K801fs	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	801					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AAGTGAAGTGGAAAAATATAAA	0.426													16	72	---	---	---	---					A	33592633	-	A	33592632	7	5	194	1	0	1	1	0	0	0	0	0	14825	1175	41	0	2415	0	SLFN5	17	33592632	Frame_Shift_Ins	INS	-	TCGA-CR-7367-01A-11D-2012-08	25744821	33592632	47602578	162	34364											
VAT1	10493	broad.mit.edu	37	chr17	41168533	41168533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccagggccatcaggtTccgtttggggcccgtcagca	5	7	15	14	3	2	0	2	0	0	0	3	0	3	0	5	5	1	3	5	5	0	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:41168533T>C	ENST00000355653.3	-	5	984	c.889A>G	c.(889-891)Aac>Gac	p.N297D	VAT1_ENST00000587173.1_Missense_Mutation_p.N229D|VAT1_ENST00000420567.3_Missense_Mutation_p.N163D	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	297						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GCCATCAGGTTCCGTTTGGGG	0.612													3	25					0	0	0	0	C	41168533	T	C	41168533	3	2	194	1	0	0	0	0	1	0	0	0	17225	1783	62	5	300	5	VAT1	17	41168533	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	7575901	41168533	40026677	163	34365											
NSF	4905	broad.mit.edu	37	chr17	44770322	44770322	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgatgaaattgatgccatCtgcaagcagagagggagcat	13	10	12	6	0	1	4	0	3	1	1	1	6	1	5	1	1	4	3	1	1	2	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:44770322C>T	ENST00000398238.4	+	10	1106	c.999C>T	c.(997-999)atC>atT	p.I333I	NSF_ENST00000225282.8_Silent_p.I239I|NSF_ENST00000575068.1_Silent_p.I328I	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	333					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TTGATGCCATCTGCAAGCAGA	0.418													4	28					0	0	0	0	T	44770322	C	T	44770322	2	4	194	1	0	0	0	0	0	0	0	1	10742	903	32	2		2	NSF	17	44770322	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	3601789	44770322	36424888	164	34366											
COL1A1	1277	broad.mit.edu	37	chr17	48263006	48263006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgccccaggctccggtgtGactctggggtggggcggaga	4	8	18	11	2	1	2	0	1	1	1	2	3	2	2	3	7	1	1	3	7	0	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:48263006G>A	ENST00000225964.5	-	51	4370	c.4252C>T	c.(4252-4254)Cac>Tac	p.H1418Y		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1418	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCTCCGGTGTGACTCTGGGGT	0.617			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						8	40					0	0	0	0	A	48263006	G	A	48263006	3	1	194	1	0	0	0	0	1	0	0	0	3707	1290	45	2	146	2	COL1A1	17	48263006	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	3492684	48263006	32932204	165	34367											
RPS6KB1	6198	broad.mit.edu	37	chr17	58009058	58009058	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctacagagacctgaagccGgagaatatcatgcttaatca	15	9	8	9	1	3	3	2	1	1	2	3	5	3	3	2	1	3	1	2	1	5	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:58009058G>A	ENST00000225577.4	+	7	684	c.663G>A	c.(661-663)ccG>ccA	p.P221P	RPS6KB1_ENST00000443572.2_Silent_p.P198P|RPS6KB1_ENST00000406116.3_Silent_p.P221P|RPS6KB1_ENST00000393021.3_Silent_p.P168P	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	221	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACCTGAAGCCGGAGAATATCA	0.388													7	38					0	0	0	0	A	58009058	G	A	58009058	2	1	194	1	0	0	0	0	0	0	0	1	13741	1103	39	1		1	RPS6KB1	17	58009058	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08	9746052	58009058	23186152	166	34368											
GH2	2689	broad.mit.edu	37	chr17	61957943	61957943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttccctccctctctcattCatccattttcctccctcccc	3	16	1	21	0	3	0	2	0	1	0	10	0	9	0	7	0	0	1	7	0	0	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:61957943C>T	ENST00000332800.7	-	4	778	c.645G>A	c.(643-645)atG>atA	p.M215I	GH2_ENST00000456543.2_Intron|GH2_ENST00000449787.2_Intron|GH2_ENST00000423893.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CTCTCTCATTCATCCATTTTC	0.562													12	84					0	0	0	0	T	61957943	C	T	61957943	3	4	194	1	0	0	0	0	1	0	0	0	6419	826	29	2	353	2	GH2	17	61957943	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	3948885	61957943	19237267	167	34369											
SMURF2	64750	broad.mit.edu	37	chr17	62589665	62589665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgattccatacactgatcGtaactgaatcagactttcca	12	13	6	10	1	1	4	1	3	0	1	4	4	3	4	2	0	2	1	2	0	3	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:62589665G>A	ENST00000262435.9	-	4	414	c.227C>T	c.(226-228)aCg>aTg	p.T76M	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	76	C2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TACACTGATCGTAACTGAATC	0.393													6	64					0	0	0	0	A	62589665	G	A	62589665	3	1	194	1	0	0	0	0	1	0	0	0	14908	1145	40	1	2083	1	SMURF2	17	62589665	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	631722	62589665	18605545	168	34370											
ARSG	22901	broad.mit.edu	37	chr17	66381312	66381312	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaccagcactgccttgttaAggtatgagaccaaaactacc	13	9	7	12	0	1	1	1	1	0	1	1	2	1	1	4	1	4	3	4	1	5	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:66381312A>T	ENST00000448504.2	+	9	1886	c.1091_splice	c.e9+1	p.S364_splice	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Splice_Site_p.S200_splice	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	364					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGCCTTGTTAAGGTATGAGAC	0.562													24	49					0	0	0	0	T	66381312	A	T	66381312	5	4	194	1	0	0	0	0	0	0	1	0	996	86	3	5	1120	5	ARSG	17	66381312	Splice_Site	SNP	A	TCGA-CR-7367-01A-11D-2012-08	3791647	66381312	14813898	169	34371											
SYT4	6860	broad.mit.edu	37	chr18	40854093	40854093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggaaaattgccattgaGatctctcttttcaagatcca	11	15	7	8	0	3	2	1	1	2	2	5	4	4	3	2	1	1	0	2	1	3	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr18:40854093G>T	ENST00000255224.3	-	2	669	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.L83I	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	101						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTGCCATTGAGATCTCTCTTT	0.398													12	90					1.36491e-13	2.96903e-13	1	0	T	40854093	G	T	40854093	3	4	194	1	0	0	0	0	1	0	0	0	15567	942	33	2	988	2	SYT4	18	40854093	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08		40854093	37223155	170	34372											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260231	44260231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcagtgaccagaatgaggCcggtgctgatgcgcttggcg	7	7	16	11	4	0	4	0	3	0	1	0	4	0	4	3	3	2	3	3	3	1	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr18:44260231C>T	ENST00000315087.7	-	7	1565	c.905G>A	c.(904-906)gGc>gAc	p.G302D	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.G271D|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.G338D	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	302					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGAATGAGGCCGGTGCTGAT	0.622													15	75					0	0	0	0	T	44260231	C	T	44260231	3	4	194	1	0	0	0	0	1	0	0	0	15325	739	26	4	229	4	ST8SIA5	18	44260231	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	3406138	44260231	33817017	171	34373											
CDH7	1005	broad.mit.edu	37	chr18	63511243	63511243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggaagctacccaggttGggaatatcattggcactgta	10	11	12	8	1	1	0	1	0	0	0	2	2	1	2	1	4	2	4	1	4	5	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr18:63511243G>A	ENST00000536984.2	+	7	1871	c.1177G>A	c.(1177-1179)Ggg>Agg	p.G393R	CDH7_ENST00000397968.2_Missense_Mutation_p.G393R|CDH7_ENST00000323011.3_Missense_Mutation_p.G393R			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	393	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TACCCAGGTTGGGAATATCAT	0.448													41	75					0	0	0	0	A	63511243	G	A	63511243	3	1	194	1	0	0	0	0	1	0	0	0	3144	1348	47	4	1199	4	CDH7	18	63511243	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	19251012	63511243	14566005	172	34374											
TSHZ1	10194	broad.mit.edu	37	chr18	72999914	72999914	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaacctcacaggccgccTgacgcccaagtcctccacgc	11	4	8	18	3	1	1	1	1	0	0	3	2	3	1	6	1	1	0	6	1	3	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr18:72999914T>A	ENST00000322038.5	+	2	3001	c.2417T>A	c.(2416-2418)cTg>cAg	p.L806Q	TSHZ1_ENST00000580243.1_Missense_Mutation_p.L851Q	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	851						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACAGGCCGCCTGACGCCCAAG	0.602													9	79					0	0	0	0	A	72999914	T	A	72999914	3	1	194	1	0	0	0	0	1	0	0	0	16718	1580	55	5	2419	5	TSHZ1	18	72999914	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	9488671	72999914	5077334	173	34375											
SALL3	27164	broad.mit.edu	37	chr18	76757094	76757094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcactaacgggctcgccatGaagaacaacgagatctccgt	13	7	9	12	4	2	3	1	1	1	2	4	4	2	3	2	1	3	1	2	1	4	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr18:76757094G>A	ENST00000536229.3	+	3	3769	c.3060G>A	c.(3058-3060)atG>atA	p.M1020I	SALL3_ENST00000575389.2_Missense_Mutation_p.M1153I|SALL3_ENST00000537592.2_Missense_Mutation_p.M1225I			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCTCGCCATGAAGAACAACG	0.602													35	166					0	0	0	0	A	76757094	G	A	76757094	3	1	194	1	0	0	0	0	1	0	0	0	13897	1290	45	2	3685	2	SALL3	18	76757094	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	3757180	76757094	1320154	174	34376											
C3	718	broad.mit.edu	37	chr19	6714452	6714452	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgaccgggatgccttcCgggttctgtgggaggcagga	5	10	17	9	2	1	1	0	1	1	0	2	4	2	4	3	5	2	3	3	5	0	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:6714452C>T	ENST00000245907.6	-	5	602	c.510G>A	c.(508-510)ccG>ccA	p.P170P		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	170					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGATGCCTTCCGGGTTCTGTG	0.562													5	43					0	0	0	0	T	6714452	C	T	6714452	2	4	194	1	0	0	0	0	0	0	0	1	2224	639	23	1		1	C3	19	6714452	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08		6714452	52414531	175	34377											
PDE4A	5141	broad.mit.edu	37	chr19	10570295	10570295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacctgctgaagaaattcCgcatccctgtggacacgatg	10	8	12	11	2	0	2	0	1	0	1	2	5	2	4	3	2	1	2	3	2	2	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:10570295C>T	ENST00000380702.2	+	11	1159	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	PDE4A_ENST00000344979.3_Missense_Mutation_p.R170C|PDE4A_ENST00000592685.1_Missense_Mutation_p.R387C|PDE4A_ENST00000352831.6_Missense_Mutation_p.R409C|PDE4A_ENST00000293683.5_Missense_Mutation_p.R383C|PDE4A_ENST00000440014.2_Missense_Mutation_p.R348C			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	409	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GAAGAAATTCCGCATCCCTGT	0.637													6	39					0	0	0	0	T	10570295	C	T	10570295	3	4	194	1	0	0	0	0	1	0	0	0	11710	652	23	1	1720	1	PDE4A	19	10570295	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	3855843	10570295	48558688	176	34378											
SMARCA4	6597	broad.mit.edu	37	chr19	11101902	11101902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgctaaggcctacaagcGcagcaagcgccagtccctgc	11	5	10	15	2	0	0	0	0	0	0	1	0	1	0	3	1	6	3	3	1	5	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:11101902G>A	ENST00000358026.2	+	8	1606	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	SMARCA4_ENST00000541122.2_Missense_Mutation_p.R441H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R441H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R441H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R441H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R441H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R441H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R441H|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R441H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	441					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCTACAAGCGCAGCAAGCGC	0.632			"F, N, Mis"		NSCLC								4	38					0	0	0	0	A	11101902	G	A	11101902	3	1	194	1	0	0	0	0	1	0	0	0	14858	1087	38	1	1348	1	SMARCA4	19	11101902	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	531607	11101902	48027081	177	34379											
ZNF625	90589	broad.mit.edu	37	chr19	12256889	12256889	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagtgtcagctctgtggtgCctattaagggatgcatgacc	8	11	12	10	0	2	1	1	1	1	0	2	2	2	2	3	2	3	2	3	2	2	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:12256889C>T	ENST00000355738.1	-	4	493	c.144G>A	c.(142-144)agG>agA	p.R48R	ZNF625_ENST00000542938.1_Silent_p.R48R|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Silent_p.R114R			Q96I27	ZN625_HUMAN	zinc finger protein 625	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						CTCTGTGGTGCCTATTAAGGG	0.443													17	56					0	0	0	0	T	12256889	C	T	12256889	2	4	194	1	0	0	0	0	0	0	0	1	18144	738	26	4		4	ZNF625	19	12256889	Silent	SNP	C	TCGA-CR-7367-01A-11D-2012-08	1154987	12256889	46872094	178	34380											
ZNF99	7652	broad.mit.edu	37	chr19	22940808	22940808	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatctcatgttttctaagggTtgaggactggctaaaagctt	10	15	10	6	0	2	1	1	1	2	0	3	2	2	2	0	3	1	4	0	3	4	7			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:22940808T>C	ENST00000397104.3	-	5	1629	c.1630A>G	c.(1630-1632)Acc>Gcc	p.T544A	ZNF99_ENST00000596209.1_Missense_Mutation_p.T635A					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCTAAGGGTTGAGGACTGG	0.373													12	61					0	0	0	0	C	22940808	T	C	22940808	3	2	194	1	0	0	0	0	1	0	0	0	18297	1725	60	5	1494	5	ZNF99	19	22940808	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	10683919	22940808	36188175	179	34381											
ACTN4	81	broad.mit.edu	37	chr19	39191741	39191741	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcaaaggcgtcaagcTggtctccatcggggcagaag	10	6	14	11	2	2	1	1	0	1	1	4	1	2	1	2	4	3	3	2	4	3	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:39191741T>A	ENST00000252699.2	+	3	453	c.377T>A	c.(376-378)cTg>cAg	p.L126Q	ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	126	Actin-binding.|CH 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCGTCAAGCTGGTCTCCATC	0.557													21	51					0	0	0	0	A	39191741	T	A	39191741	3	1	194	1	0	0	0	0	1	0	0	0	207	1580	55	5	387	5	ACTN4	19	39191741	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	16250933	39191741	19937242	180	34382											
CEACAM3	1084	broad.mit.edu	37	chr19	42314017	42314017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctagaaccagcatccagcGtgacctcaaggagcagcagc	12	5	10	14	1	1	2	1	1	0	1	3	3	3	3	4	1	6	3	4	1	3	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:42314017G>A	ENST00000357396.3	+	4	798	c.557G>A	c.(556-558)cGt>cAt	p.R186H	CEACAM3_ENST00000221999.4_Intron|CEACAM3_ENST00000344550.4_Intron	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	186						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AGCATCCAGCGTGACCTCAAG	0.592													36	295					0	0	0	0	A	42314017	G	A	42314017	3	1	194	1	0	0	0	0	1	0	0	0	3222	1145	40	1	571	1	CEACAM3	19	42314017	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	3122276	42314017	16814966	181	34383											
ZNF180	7733	broad.mit.edu	37	chr19	45004353	45004353	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgctggcccgcagcccaGgctgggcctgtcaccgcctc	3	6	13	19	3	1	0	1	0	0	0	3	0	2	0	6	3	1	3	6	3	0	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:45004353G>T	ENST00000221327.4	-	0	221				ZNF180_ENST00000585514.1_5'UTR|ZNF180_ENST00000592529.1_De_novo_Start_OutOfFrame|ZNF180_ENST00000587047.1_De_novo_Start_OutOfFrame|ZNF180_ENST00000586637.1_De_novo_Start_OutOfFrame|ZNF180_ENST00000391956.4_De_novo_Start_OutOfFrame	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CCGCAGCCCAGGCTGGGCCTG	0.701											OREG0025537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	76					3.5997e-14	7.87084e-14	1	0	T	45004353	G	T	45004353	1	4	194	1	0	0	0	0	0	0	0	0	17843	1015	35	4		4	ZNF180	19	45004353	Translation_Start_Site	SNP	G	TCGA-CR-7367-01A-11D-2012-08	2690336	45004353	14124630	182	34384											
IRF2BP1	26145	broad.mit.edu	37	chr19	46388533	46388533	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagacactgcagctgccAgcagcccagggggcatcaag	10	3	14	14	0	1	1	1	0	0	1	1	1	1	1	3	3	5	4	3	3	1	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:46388533A>T	ENST00000302165.3	-	1	843	c.500T>A	c.(499-501)cTg>cAg	p.L167Q		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TGCAGCTGCCAGCAGCCCAGG	0.682													9	61					0	0	0	0	T	46388533	A	T	46388533	3	4	194	1	0	0	0	0	1	0	0	0	7882	188	7	5	1258	5	IRF2BP1	19	46388533	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	1384180	46388533	12740450	183	34385											
TSKS	60385	broad.mit.edu	37	chr19	50250010	50250010	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcggcctcctgccgtcGcggcgtctcatcctgcagct	3	9	11	18	5	1	0	1	0	1	0	6	0	3	0	4	2	4	3	4	2	0	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:50250010G>A	ENST00000246801.3	-	6	791	c.709C>T	c.(709-711)Cga>Tga	p.R237*	TSKS_ENST00000358830.3_Nonsense_Mutation_p.R37*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	237							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		tcctgccgtcgcggcgtctca	0.677													6	34					0	0	0	0	A	50250010	G	A	50250010	4	1	194	1	0	0	0	0	0	1	0	0	16721	1095	38	1	1093	1	TSKS	19	50250010	Nonsense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	3861477	50250010	8878973	184	34386											
MYADM	91663	broad.mit.edu	37	chr19	54377153	54377153	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatcatctaccccaccaccTatgtccagttcctgtcccac	8	10	3	20	0	2	0	1	0	1	0	5	0	5	0	8	0	1	1	8	0	2	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:54377153T>C	ENST00000391769.2	+	3	650	c.370T>C	c.(370-372)Tat>Cat	p.Y124H	MYADM_ENST00000391770.4_Missense_Mutation_p.Y124H|MYADM_ENST00000391771.1_Missense_Mutation_p.Y124H|MYADM_ENST00000336967.3_Missense_Mutation_p.Y124H|MYADM_ENST00000391768.2_Missense_Mutation_p.Y124H	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	124	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CCCCACCACCTATGTCCAGTT	0.647													20	129					0	0	0	0	C	54377153	T	C	54377153	3	2	194	1	0	0	0	0	1	0	0	0	10076	1522	53	5	372	5	MYADM	19	54377153	Missense_Mutation	SNP	T	TCGA-CR-7367-01A-11D-2012-08	4127143	54377153	4751830	185	34387											
NLRP2	55655	broad.mit.edu	37	chr19	55481573	55481573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatcctcaccacccattgtGacagctactgggtggagatg	11	9	10	11	0	1	2	1	1	0	1	2	3	2	2	3	2	2	1	3	2	2	2			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:55481573G>C	ENST00000543010.1	+	2	333	c.190G>C	c.(190-192)Gac>Cac	p.D64H	NLRP2_ENST00000448584.2_Missense_Mutation_p.D64H|NLRP2_ENST00000427260.2_Intron|NLRP2_ENST00000537859.1_Missense_Mutation_p.D64H|NLRP2_ENST00000339757.7_Missense_Mutation_p.D64H|NLRP2_ENST00000538819.1_Missense_Mutation_p.D64H|NLRP2_ENST00000263437.6_Missense_Mutation_p.D64H|NLRP2_ENST00000391721.4_Missense_Mutation_p.D64H	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	64	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CACCCATTGTGACAGCTACTG	0.532													15	74					0	0	0	0	C	55481573	G	C	55481573	3	2	194	1	0	0	0	0	1	0	0	0	10547	1290	45	2	192	2	NLRP2	19	55481573	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	1104420	55481573	3647410	186	34388											
NLRP2	55655	broad.mit.edu	37	chr19	55494909	55494909	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctgtacgagtctcaggagGaggagctggtgaaggaggtg	9	8	19	5	1	2	1	1	1	2	0	3	6	2	5	0	6	2	2	0	6	2	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:55494909G>T	ENST00000543010.1	+	6	1986	c.1843G>T	c.(1843-1845)Gag>Tag	p.E615*	NLRP2_ENST00000448584.2_Nonsense_Mutation_p.E615*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.E592*|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.E593*|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.E593*|NLRP2_ENST00000538819.1_Nonsense_Mutation_p.E591*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.E612*|NLRP2_ENST00000391721.4_Nonsense_Mutation_p.E591*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	615					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTCTCAGGAGGAGGAGCTGGT	0.507													12	30					5.50884e-06	1.09657e-05	1	0	T	55494909	G	T	55494909	4	4	194	1	0	0	0	0	0	1	0	0	10547	1175	41	2	1861	2	NLRP2	19	55494909	Nonsense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	13336	55494909	3634074	187	34389											
SBK2	646643	broad.mit.edu	37	chr19	56047567	56047567	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcctggccctgctggAgctcctctaatgtcaggccg	5	9	11	16	1	2	0	1	0	1	0	4	1	4	1	5	3	3	2	5	3	1	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:56047567A>T	ENST00000413299.1	-	2	132	c.95T>A	c.(94-96)cTc>cAc	p.L32H	SBK2_ENST00000344158.3_Missense_Mutation_p.L32H	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	32							ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCCTGCTGGAGCTCCTCTAA	0.667													4	38					0	0	0	0	T	56047567	A	T	56047567	3	4	194	1	0	0	0	0	1	0	0	0	13947	304	11	5	962	5	SBK2	19	56047567	Missense_Mutation	SNP	A	TCGA-CR-7367-01A-11D-2012-08	552658	56047567	3081416	188	34390											
ZNF581	51545	broad.mit.edu	37	chr19	56156365	56156365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacctggcgggtggtgggcGgccccacggctgcccgctct	2	7	16	16	4	2	0	1	0	1	0	2	0	2	0	4	6	1	2	4	6	0	0			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:56156365G>A	ENST00000587252.1	+	2	701	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	ZNF581_ENST00000270451.5_Missense_Mutation_p.R143Q|ZNF581_ENST00000588537.1_Missense_Mutation_p.R143Q			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GGTGGTGGGCGGCCCCACGGC	0.667													21	104					0	0	0	0	A	56156365	G	A	56156365	3	1	194	1	0	0	0	0	1	0	0	0	18108	1116	39	1	430	1	ZNF581	19	56156365	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	108798	56156365	2972618	189	34391											
NLRP4	147945	broad.mit.edu	37	chr19	56369225	56369225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacagtgatcattcaaggaCcacaaggaattggaaaaacg	17	7	10	7	1	2	1	2	1	0	0	2	4	2	4	1	3	2	1	1	3	6	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:56369225C>T	ENST00000301295.6	+	3	888	c.466C>T	c.(466-468)Cca>Tca	p.P156S	NLRP4_ENST00000587891.1_Missense_Mutation_p.P81S|NLRP4_ENST00000346986.5_Missense_Mutation_p.P156S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	156	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CATTCAAGGACCACAAGGAAT	0.473													18	151					0	0	0	0	T	56369225	C	T	56369225	3	4	194	1	0	0	0	0	1	0	0	0	10549	507	18	4	472	4	NLRP4	19	56369225	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	212860	56369225	2759758	190	34392											
SNRPB2	6629	broad.mit.edu	37	chr20	16721614	16721614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggatttaagatcacaccGtcccatgctatgaagatcac	13	9	8	11	1	2	3	2	1	0	2	3	4	3	4	2	1	1	1	2	1	3	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr20:16721614G>A	ENST00000246071.6	+	7	858	c.642G>A	c.(640-642)ccG>ccA	p.P214P	SNRPB2_ENST00000377943.5_Silent_p.P214P	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	214	RRM 2.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						AGATCACACCGTCCCATGCTA	0.413													8	63					0	0	0	0	A	16721614	G	A	16721614	2	1	194	1	0	0	0	0	0	0	0	1	14950	1132	40	1		1	SNRPB2	20	16721614	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08		16721614	46303906	191	34393											
CHD6	84181	broad.mit.edu	37	chr20	40162087	40162087	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgaggcagacagtgactAgcaacatcttcaattttctc	11	13	7	10	0	4	3	1	2	3	1	5	3	4	3	0	1	2	2	0	1	3	5			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr20:40162087A>G	ENST00000373233.3	-	3	333	c.156T>C	c.(154-156)gcT>gcC	p.A52A	CHD6_ENST00000373222.3_Silent_p.A87A|CHD6_ENST00000309279.7_Silent_p.A52A	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	52					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GACAGTGACTAGCAACATCTT	0.448													53	91					0	0	0	0	G	40162087	A	G	40162087	2	3	194	1	0	0	0	0	0	0	0	1	3358	407	15	5		5	CHD6	20	40162087	Silent	SNP	A	TCGA-CR-7367-01A-11D-2012-08	23440473	40162087	22863433	192	34394											
BMP7	655	broad.mit.edu	37	chr20	55803477	55803477	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattccttgtcatgttccActggaagaggaagagaacac	14	9	10	8	0	1	3	1	0	0	3	3	6	3	5	2	2	1	1	2	2	4	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr20:55803477A>G	ENST00000395863.3	-	2	924	c.418_splice	c.e2-1	p.V140_splice	BMP7_ENST00000395864.3_Splice_Site_p.V140_splice|BMP7_ENST00000450594.2_Splice_Site_p.V140_splice	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	140					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GTCATGTTCCACTGGAAGAGG	0.512													3	114					0	0	0	0	G	55803477	A	G	55803477	5	3	194	1	0	0	0	0	0	0	1	0	1470	173	6	5	900	5	BMP7	20	55803477	Splice_Site	SNP	A	TCGA-CR-7367-01A-11D-2012-08	15641390	55803477	7222043	193	34395											
LAMA5	3911	broad.mit.edu	37	chr20	60888727	60888727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaggtactggggtaccccCcgacgtagaagacgaagtcg	11	6	14	10	4	0	3	0	1	0	2	1	5	0	3	3	3	2	3	3	3	6	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr20:60888727C>T	ENST00000252999.3	-	63	8702	c.8636G>A	c.(8635-8637)gGg>gAg	p.G2879E		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2879	Laminin G-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGGTACCCCCCGACGTAGAA	0.677													18	76					0	0	0	0	T	60888727	C	T	60888727	3	4	194	1	0	0	0	0	1	0	0	0	8662	623	22	4	2523	4	LAMA5	20	60888727	Missense_Mutation	SNP	C	TCGA-CR-7367-01A-11D-2012-08	5085250	60888727	2136793	194	34396											
POTEH	23784	broad.mit.edu	37	chr22	16267041	16267041	+	Silent	SNP	G	G	A																															agcagtggcaccgttagtcaGgttttctgggaatcccatat																										TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr22:16267041G>A	ENST00000343518.6	-	9	1459	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	470										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCGTTAGTCAGGTTTTCTGGG	0.403													25	573					0	0	0	0	A	16267041	G	A	16267041	2	1	194	1	0	0	0	0	0	0	0	1	12339	991	35	4		4	POTEH	22	16267041	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08		16267041	35037525	195	34397	259	2									
POTEH	23784	broad.mit.edu	37	chr22	16267042	16267042	+	Missense_Mutation	SNP	G	G	T																															gcagtggcaccgttagtcagGttttctgggaatcccatatg																										TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr22:16267042G>T	ENST00000343518.6	-	9	1458	c.1407C>A	c.(1405-1407)aaC>aaA	p.N469K		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	469										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CGTTAGTCAGGTTTTCTGGGA	0.403													24	570					6.36457e-07	1.29751e-06	1	0	T	16267042	G	T	16267042	3	4	194	1	0	0	0	0	1	0	0	0	12339	1252	44	4	238	4	POTEH	22	16267042	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	1	16267042	35037524	196	34398	259	2									
CELSR1	9620	broad.mit.edu	37	chr22	46859980	46859980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagaactggccgcggacGccgccaggcagcagcgccga	9	1	17	14	6	0	1	0	0	0	1	0	4	0	3	4	4	3	2	4	4	2	0	rs148297929	byFrequency	TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr22:46859980G>A	ENST00000262738.3	-	2	3806	c.3807C>T	c.(3805-3807)ggC>ggT	p.G1269G	CELSR1_ENST00000395964.1_Silent_p.G1269G	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1269					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCCGCGGACGCCGCCAGGCA	0.632													6	48					0	0	0	0	A	46859980	G	A	46859980	2	1	194	1	0	0	0	0	0	0	0	1	3250	1074	38	1		1	CELSR1	22	46859980	Silent	SNP	G	TCGA-CR-7367-01A-11D-2012-08	30592938	46859980	4444586	197	34399											
ARHGAP6	395	broad.mit.edu	37	chrX	11207007	11207007	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccacaaagtcagatgcatcTttctgctcgtccctctgcaa	9	11	7	14	1	4	1	1	0	3	1	6	1	5	1	2	0	3	3	2	0	2	1			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chrX:11207007T>C	ENST00000337414.4	-	4	1790	c.918A>G	c.(916-918)aaA>aaG	p.K306K	ARHGAP6_ENST00000303025.6_Silent_p.K103K|ARHGAP6_ENST00000380736.1_Silent_p.K103K|ARHGAP6_ENST00000380718.1_Silent_p.K306K|ARHGAP6_ENST00000380732.3_Silent_p.K338K|ARHGAP6_ENST00000534860.1_Silent_p.K131K|ARHGAP6_ENST00000413512.3_Silent_p.K115K	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	306					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAGATGCATCTTTCTGCTCGT	0.453													11	18					0	0	0	0	C	11207007	T	C	11207007	2	2	194	1	0	0	0	0	0	0	0	1	889	1606	56	5		5	ARHGAP6	23	11207007	Silent	SNP	T	TCGA-CR-7367-01A-11D-2012-08		11207007	144063553	198	34400											
AKAP4	8852	broad.mit.edu	37	chrX	49957554	49957554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatggtccaggggctctgtGagattctagttgtttcactg	6	14	14	7	0	3	1	1	1	2	1	4	3	4	2	1	4	0	3	1	4	1	4			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chrX:49957554G>A	ENST00000376056.2	-	5	1933	c.1783C>T	c.(1783-1785)Cac>Tac	p.H595Y	AKAP4_ENST00000376058.2_Missense_Mutation_p.H221Y|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.H604Y|AKAP4_ENST00000376064.3_Missense_Mutation_p.H595Y			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	604					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GGGGCTCTGTGAGATTCTAGT	0.458													18	27					0	0	0	0	A	49957554	G	A	49957554	3	1	194	1	0	0	0	0	1	0	0	0	453	1290	45	2	762	2	AKAP4	23	49957554	Missense_Mutation	SNP	G	TCGA-CR-7367-01A-11D-2012-08	38750547	49957554	105313006	199	34401											
KDM5C	8242	broad.mit.edu	37	chrX	53240037	53240038	+	Frame_Shift_Ins	INS	-	-	A																															tccaaccactggtagcatacINStcctgccaggtcaggtattt																										TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chrX:53240037_53240038insA	ENST00000452825.3	-	9	1734_1735	c.1202_1203insT	c.(1201-1203)gtafs	p.V401fs	KDM5C_ENST00000375379.3_Frame_Shift_Ins_p.V468fs|KDM5C_ENST00000375383.3_Frame_Shift_Ins_p.V427fs|KDM5C_ENST00000375401.3_Frame_Shift_Ins_p.V468fs|KDM5C_ENST00000404049.3_Frame_Shift_Ins_p.V467fs	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	468					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TGGTAGCATACTCCTGCCAGGT	0.455			"N, F, S"		clear cell renal carcinoma								17	33	---	---	---	---					A	53240038	-	A	53240037	7	5	194	1	0	1	1	0	0	0	0	0	8187	564	20	0	3440	0	KDM5C	23	53240037	Frame_Shift_Ins	INS	-	TCGA-CR-7367-01A-11D-2012-08	3282483	53240037	102030523	200	34402											
H2BFWT	158983	broad.mit.edu	37	chrX	103268089	103268089	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacgtagtggagttggcctcTttgggctcctgggtgatcag	5	12	16	8	1	2	1	1	1	1	0	3	3	3	2	2	4	0	3	2	4	1	3			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chrX:103268089T>C	ENST00000217926.5	-	1	170	c.144A>G	c.(142-144)aaA>aaG	p.K48K		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	48					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGTTGGCCTCTTTGGGCTCCT	0.627													7	10					0	0	0	0	C	103268089	T	C	103268089	2	2	194	1	0	0	0	0	0	0	0	1	6982	1606	56	5		5	H2BFWT	23	103268089	Silent	SNP	T	TCGA-CR-7367-01A-11D-2012-08	50028052	103268089	52002471	201	34403											
ANGPTL7	10218	broad.mit.edu	37	chr1	11249656	11249656	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgctgaaaaagcctctctCagctgtgacctggctctgca	9	10	10	12	0	3	2	1	2	2	0	4	3	3	2	2	1	4	4	2	1	2	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:11249656C>G	ENST00000376819.3	+	1	259	c.20C>G	c.(19-21)tCa>tGa	p.S7*	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	7					response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AAGCCTCTCTCAGCTGTGACC	0.557													18	138					0	0	0	0	G	11249656	C	G	11249656	4	3	195	1	0	0	0	0	0	1	0	0	619	838	29	2	22	2	ANGPTL7	1	11249656	Nonsense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08		11249656	238000965	1	34404											
VPS13D	55187	broad.mit.edu	37	chr1	12337106	12337106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagaagcttcagagaacaagGaacttaccagtctacatatg	17	8	8	8	0	2	2	1	0	1	2	2	4	2	3	1	1	5	1	1	1	8	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:12337106G>A	ENST00000358136.3	+	19	3591	c.3461G>A	c.(3460-3462)gGa>gAa	p.G1154E	VPS13D_ENST00000356315.4_Missense_Mutation_p.G1154E	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1154					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGAGAACAAGGAACTTACCAG	0.393													5	84					0	0	0	0	A	12337106	G	A	12337106	3	1	195	1	0	0	0	0	1	0	0	0	17288	1174	41	2	3531	2	VPS13D	1	12337106	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	1087450	12337106	236913515	2	34405											
PADI3	51702	broad.mit.edu	37	chr1	17609457	17609457	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgctggagccgctgggcctCcactgcaccttcattgatga	6	10	11	14	1	1	2	1	2	0	0	2	3	2	3	4	2	3	3	4	2	0	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:17609457C>G	ENST00000375460.3	+	16	1918	c.1878C>G	c.(1876-1878)ctC>ctG	p.L626L		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	626					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGCTGGGCCTCCACTGCACCT	0.587													7	54					0	0	0	0	G	17609457	C	G	17609457	2	3	195	1	0	0	0	0	0	0	0	1	11450	842	30	2		2	PADI3	1	17609457	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	5272351	17609457	231641164	3	34406											
NFYC	4802	broad.mit.edu	37	chr1	41235027	41235027	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaccatcttgattcttacaGattacacagacagaggtcca	13	11	6	11	0	2	4	0	1	2	3	3	4	3	4	2	1	3	0	2	1	3	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:41235027G>A	ENST00000372652.1	+	9	1096		c.e9-1		NFYC_ENST00000447388.3_Splice_Site|NFYC_ENST00000440226.3_Splice_Site|NFYC_ENST00000372651.1_Splice_Site|NFYC_ENST00000372654.1_Splice_Site|NFYC_ENST00000308733.5_Splice_Site|NFYC_ENST00000427410.2_Splice_Site|NFYC_ENST00000456393.2_Splice_Site|NFYC_ENST00000372653.1_Splice_Site|NFYC_ENST00000425457.2_Splice_Site			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma						protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GATTCTTACAGATTACACAGA	0.507													9	93					0	0	0	0	A	41235027	G	A	41235027	5	1	195	1	0	0	0	0	0	0	1	0	10461	956	33	2	919	2	NFYC	1	41235027	Splice_Site	SNP	G	TCGA-CR-7368-01A-11D-2129-08	23625570	41235027	208015594	4	34407											
KDM4A	9682	broad.mit.edu	37	chr1	44137205	44137205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actccactgaagtcaaatttGaagagcttaaaaatgtcaaa	18	10	6	7	0	2	3	2	2	0	1	3	3	3	3	1	0	1	1	1	0	7	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:44137205G>A	ENST00000372396.3	+	11	1527	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	465					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGTCAAATTTGAAGAGCTTAA	0.458													13	110					0	0	0	0	A	44137205	G	A	44137205	3	1	195	1	0	0	0	0	1	0	0	0	8181	1291	45	2	1431	2	KDM4A	1	44137205	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	2902178	44137205	205113416	5	34408											
RPS8	6202	broad.mit.edu	37	chr1	45243773	45243773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcagcagtctcctggaGgagcagttccagcagggcaa	13	6	12	10	0	2	0	1	0	1	0	4	2	3	2	2	3	3	5	2	3	3	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:45243773G>A	ENST00000396651.3	+	5	649	c.489G>A	c.(487-489)gaG>gaA	p.E163E	RPS8_ENST00000372209.3_Silent_p.E143E|RPS8_ENST00000485390.1_3'UTR			P62241	RS8_HUMAN	ribosomal protein S8	163					endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					GTCTCCTGGAGGAGCAGTTCC	0.448													3	12					0	0	0	0	A	45243773	G	A	45243773	2	1	195	1	0	0	0	0	0	0	0	1	13746	991	35	4		4	RPS8	1	45243773	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	1106568	45243773	204006848	6	34409											
DNAJC6	9829	broad.mit.edu	37	chr1	65858191	65858191	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgagcaatcagatgatGaacttctgacactttccagt	14	11	8	8	0	2	5	1	4	1	1	3	5	3	5	1	0	2	1	1	0	3	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:65858191G>T	ENST00000395325.3	+	12	1532	c.1375G>T	c.(1375-1377)Gaa>Taa	p.E459*	DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.E516*|DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.E446*	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	459					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATCAGATGATGAACTTCTGAC	0.512													11	25					1.61879e-10	1.74051e-10	1	0	T	65858191	G	T	65858191	4	4	195	1	0	0	0	0	0	1	0	0	4689	1291	45	2	1421	2	DNAJC6	1	65858191	Nonsense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	20614418	65858191	183392430	7	34410											
ODF2L	57489	broad.mit.edu	37	chr1	86852635	86852635	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actggtacaccgtggtaaatCttctttctctgatatagttt	9	17	7	8	1	3	1	0	1	3	0	4	1	3	1	1	2	1	3	1	2	5	7			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:86852635C>G	ENST00000359242.3	-	2	357	c.76G>C	c.(76-78)Gat>Cat	p.D26H	ODF2L_ENST00000317336.7_Missense_Mutation_p.D26H|ODF2L_ENST00000478286.2_Missense_Mutation_p.D26H|ODF2L_ENST00000394731.1_5'UTR|ODF2L_ENST00000486215.1_Missense_Mutation_p.D26H|ODF2L_ENST00000294678.2_Missense_Mutation_p.D26H|ODF2L_ENST00000370567.1_Missense_Mutation_p.D26H|ODF2L_ENST00000370566.3_Missense_Mutation_p.D26H	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	26						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CGTGGTAAATCTTCTTTCTCT	0.358													7	68					0	0	0	0	G	86852635	C	G	86852635	3	3	195	1	0	0	0	0	1	0	0	0	10899	913	32	2	2078	2	ODF2L	1	86852635	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	20994444	86852635	162397986	8	34411											
DNTTIP2	30836	broad.mit.edu	37	chr1	94342038	94342038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattacaaacaatgcattgtCacatgacagacttcctgtgt	14	12	6	9	0	1	2	1	1	0	1	2	2	2	2	1	0	3	1	1	0	4	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:94342038C>T	ENST00000436063.2	-	2	1510	c.1453G>A	c.(1453-1455)Gac>Aac	p.D485N	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		AATGCATTGTCACATGACAGA	0.393													23	41					0	0	0	0	T	94342038	C	T	94342038	3	4	195	1	0	0	0	0	1	0	0	0	4718	826	29	2	841	2	DNTTIP2	1	94342038	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	7489403	94342038	154908583	9	34412											
GNAT2	2780	broad.mit.edu	37	chr1	110151357	110151357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccacgagctcaggaggCatggttccctcctcaatgga	9	8	10	14	1	2	0	2	0	0	0	5	3	5	2	4	4	1	3	4	4	1	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:110151357C>T	ENST00000351050.3	-	4	543	c.357G>A	c.(355-357)atG>atA	p.M119I		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	119					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		GCTCAGGAGGCATGGTTCCCT	0.517													21	49					0	0	0	0	T	110151357	C	T	110151357	3	4	195	1	0	0	0	0	1	0	0	0	6563	710	25	4	727	4	GNAT2	1	110151357	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	15809319	110151357	139099264	10	34413											
SLC16A4	9122	broad.mit.edu	37	chr1	110921808	110921808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccttgatggtagactcttCtgtctcatggcagtgtgttt	5	17	11	8	0	3	2	1	1	3	1	5	2	4	2	1	2	0	3	1	2	1	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:110921808C>T	ENST00000369779.4	-	6	946	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	SLC16A4_ENST00000541986.1_Missense_Mutation_p.E171K|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000472422.2_Missense_Mutation_p.E185K|SLC16A4_ENST00000437429.2_Missense_Mutation_p.E123K	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	233						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GTAGACTCTTCTGTCTCATGG	0.423													39	90					0	0	0	0	T	110921808	C	T	110921808	3	4	195	1	0	0	0	0	1	0	0	0	14498	922	32	2	782	2	SLC16A4	1	110921808	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	770451	110921808	138328813	11	34414											
CA14	23632	broad.mit.edu	37	chr1	150235226	150235226	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgagactaagaatatagcTtatgaacacattctgagtca	15	11	9	6	0	2	4	1	3	1	2	2	5	2	4	0	1	2	1	0	1	6	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:150235226T>G	ENST00000369111.4	+	6	1489	c.519T>G	c.(517-519)gcT>gcG	p.A173A		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	173						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAATATAGCTTATGAACACA	0.363													55	91					0	0	0	0	G	150235226	T	G	150235226	2	3	195	1	0	0	0	0	0	0	0	1	2540	1596	56	5		5	CA14	1	150235226	Silent	SNP	T	TCGA-CR-7368-01A-11D-2129-08	39313418	150235226	99015395	12	34415											
C1orf56	54964	broad.mit.edu	37	chr1	151021004	151021004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggtctgggaagctgcaCggcctttccgggcgccttcg	4	8	15	14	5	1	0	0	0	1	0	3	1	2	1	4	4	3	2	4	4	1	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:151021004C>A	ENST00000368926.5	+	1	789	c.681C>A	c.(679-681)caC>caA	p.H227Q		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	227						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAAGCTGCACGGCCTTTCCG	0.652											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	83					4.16121e-05	4.35936e-05	1	0	A	151021004	C	A	151021004	3	1	195	1	0	0	0	0	1	0	0	0	2068	535	19	3	683	3	C1orf56	1	151021004	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	785778	151021004	98229617	13	34416											
FLG2	388698	broad.mit.edu	37	chr1	152324824	152324824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtctttgtgagaaccctGagtgcccttcactgtcactg	6	13	11	11	0	3	2	2	2	1	1	3	3	3	2	2	1	2	0	2	1	1	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:152324824G>A	ENST00000388718.5	-	3	5510	c.5438C>T	c.(5437-5439)tCa>tTa	p.S1813L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1813							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGAACCCTGAGTGCCCTTC	0.537													61	149					0	0	0	0	A	152324824	G	A	152324824	3	1	195	1	0	0	0	0	1	0	0	0	5968	1294	45	2	1741	2	FLG2	1	152324824	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	1303820	152324824	96925797	14	34417											
ADAMTS4	9507	broad.mit.edu	37	chr1	161166083	161166083	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtgtcgcaagtggagactCcacacaggtcctgtggagag	9	7	15	10	2	0	2	0	0	0	2	3	4	2	2	2	3	0	1	2	3	1	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:161166083C>A	ENST00000367996.4	-	3	1396	c.968G>T	c.(967-969)gGa>gTa	p.G323V	ADAMTS4_ENST00000367995.3_3'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	323	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGTGGAGACTCCACACAGGTC	0.597													12	59					3.07112e-06	3.22919e-06	1	0	A	161166083	C	A	161166083	3	1	195	1	0	0	0	0	1	0	0	0	268	855	30	2	1573	2	ADAMTS4	1	161166083	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	8841259	161166083	88084538	15	34418											
DDR2	4921	broad.mit.edu	37	chr1	162749994	162749994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acgaagaaccgtccctcattCcaagaaatccaccttctgct	12	9	5	15	2	2	2	1	0	1	2	5	3	5	2	5	0	2	1	5	0	4	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:162749994C>G	ENST00000367922.2	+	19	2964	c.2526C>G	c.(2524-2526)ttC>ttG	p.F842L	DDR2_ENST00000367921.3_Missense_Mutation_p.F842L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	842	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GTCCCTCATTCCAAGAAATCC	0.522													8	98					0	0	0	0	G	162749994	C	G	162749994	3	3	195	1	0	0	0	0	1	0	0	0	4369	854	30	2	2588	2	DDR2	1	162749994	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	1583911	162749994	86500627	16	34419											
CFH	3075	broad.mit.edu	37	chr1	196658599	196658599	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggaggtctatatcatgaGaatatgcgtagaccatactt	13	12	9	7	1	2	2	1	1	1	2	2	4	2	3	1	2	2	1	1	2	6	6			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:196658599G>A	ENST00000367429.4	+	8	1254	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	CFH_ENST00000359637.2_Silent_p.E274E|CFH_ENST00000439155.2_Silent_p.E338E	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	338	Sushi 6.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TATATCATGAGAATATGCGTA	0.323													12	62					0	0	0	0	A	196658599	G	A	196658599	2	1	195	1	0	0	0	0	0	0	0	1	3312	933	33	2		2	CFH	1	196658599	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	33908605	196658599	52592022	17	34420											
ATP6V1G3	127124	broad.mit.edu	37	chr1	198509756	198509756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcctgaagaagctggtGgatcccctgagactggcttg	7	11	13	10	0	1	3	0	2	1	2	2	5	2	4	3	3	2	2	3	3	2	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:198509756G>A	ENST00000309309.7	-	2	130	c.25C>T	c.(25-27)Cac>Tac	p.H9Y	ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.H9Y|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.H9Y|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.H9Y|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.H9Y	NM_133326.1	NP_579872.1	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	9					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						AGAAGCTGGTGGATCCCCTGA	0.458													43	70					0	0	0	0	A	198509756	G	A	198509756	3	1	195	1	0	0	0	0	1	0	0	0	1192	1348	47	4	393	4	ATP6V1G3	1	198509756	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	1851157	198509756	50740865	18	34421											
KIF14	9928	broad.mit.edu	37	chr1	200549426	200549426	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagtttagattcaaacttttCcagactccagaatgttgaga	14	13	7	7	0	1	4	1	1	0	4	3	5	3	4	2	0	1	2	2	0	4	6			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:200549426C>G	ENST00000367350.4	-	21	3859	c.3421G>C	c.(3421-3423)Gaa>Caa	p.E1141Q		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1141	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCAAACTTTTCCAGACTCCAG	0.279													6	16					0	0	0	0	G	200549426	C	G	200549426	3	3	195	1	0	0	0	0	1	0	0	0	8327	864	30	2	1565	2	KIF14	1	200549426	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	2039670	200549426	48701195	19	34422											
LMOD1	25802	broad.mit.edu	37	chr1	201868676	201868676	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccttcttctctccctTggcttcctgtgcctgccttt	2	17	6	16	0	2	1	0	0	2	1	6	1	5	1	5	1	2	1	5	1	0	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:201868676T>G	ENST00000367288.4	-	2	1711	c.1465A>C	c.(1465-1467)Aag>Cag	p.K489Q	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	489					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTCTCTCCCTTGGCTTCCTGT	0.592													11	16					0	0	0	0	G	201868676	T	G	201868676	3	3	195	1	0	0	0	0	1	0	0	0	8911	1821	63	5	345	5	LMOD1	1	201868676	Missense_Mutation	SNP	T	TCGA-CR-7368-01A-11D-2129-08	1319250	201868676	47381945	20	34423											
C4BPA	722	broad.mit.edu	37	chr1	207286390	207286390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcaccccccaaaaactcCatctggggctcttcatagaa	12	8	6	15	0	3	1	1	0	2	1	4	1	4	1	4	2	2	2	4	2	4	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:207286390C>T	ENST00000367070.3	+	2	214	c.20C>T	c.(19-21)cCa>cTa	p.P7L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	7					complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CCAAAAACTCCATCTGGGGCT	0.443													16	32					0	0	0	0	T	207286390	C	T	207286390	3	4	195	1	0	0	0	0	1	0	0	0	2270	594	21	4	22	4	C4BPA	1	207286390	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	5417714	207286390	41964231	21	34424											
CD46	4179	broad.mit.edu	37	chr1	207966940	207966940	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagcagagaggctgaataGattccacaacctggtttgcc	12	8	11	10	0	0	4	0	1	0	3	1	5	1	4	3	2	3	3	3	2	3	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:207966940G>C	ENST00000441839.2	+	11	1251	c.1095G>C	c.(1093-1095)taG>taC	p.*365Y	CD46_ENST00000360212.2_3'UTR|CD46_ENST00000480003.1_3'UTR|CD46_ENST00000367047.1_3'UTR|CD46_ENST00000354848.1_3'UTR|CD46_ENST00000322918.5_Nonstop_Mutation_p.*350Y|CD46_ENST00000367041.1_3'UTR|CD46_ENST00000367042.1_3'UTR|CD46_ENST00000357714.1_3'UTR|CD46_ENST00000322875.4_3'UTR|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000361067.1_3'UTR|CD46_ENST00000358170.2_3'UTR			P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	0					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						AGGCTGAATAGATTCCACAAC	0.413													6	36					0	0	0	0	C	207966940	G	C	207966940	4	2	195	1	0	0	0	0	0	0	0	0	3047	937	33	2	1310	2	CD46	1	207966940	Nonstop_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	680550	207966940	41283681	22	34425											
MTR	4548	broad.mit.edu	37	chr1	236995364	236995364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtttgctaaactcatcatgGcaggaaactatgaagtgagc	14	10	10	7	0	2	2	2	2	0	0	2	3	2	3	0	2	4	3	0	2	5	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:236995364G>T	ENST00000366577.5	+	13	1568	c.1174G>T	c.(1174-1176)Gca>Tca	p.A392S	MTR_ENST00000535889.1_Missense_Mutation_p.A392S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	392	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ACTCATCATGGCAGGAAACTA	0.448													6	48					2.0095e-06	2.12072e-06	1	0	T	236995364	G	T	236995364	3	4	195	1	0	0	0	0	1	0	0	0	10028	1203	42	4	1224	4	MTR	1	236995364	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	29028424	236995364	12255257	23	34426											
EXO1	9156	broad.mit.edu	37	chr1	242045251	242045251	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atattaagttacttgacagtCaaagtgaccagacctccaag	15	10	7	9	0	1	3	1	2	0	1	2	3	2	3	3	0	1	1	3	0	5	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:242045251C>T	ENST00000366548.3	+	14	2736	c.2143C>T	c.(2143-2145)Caa>Taa	p.Q715*	EXO1_ENST00000348581.5_Nonsense_Mutation_p.Q715*|EXO1_ENST00000518483.1_Nonsense_Mutation_p.Q715*	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	715	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACTTGACAGTCAAAGTGACCA	0.279								Editing and processing nucleases					4	44					0	0	0	0	T	242045251	C	T	242045251	4	4	195	1	0	0	0	0	0	1	0	0	5337	827	29	2	2185	2	EXO1	1	242045251	Nonsense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	5049887	242045251	7205370	24	34427											
OR2M2	391194	broad.mit.edu	37	chr1	248343777	248343777	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattgatgctgtagccacaTtttccttctccttttgtggg	5	18	8	10	0	2	1	1	1	1	0	4	1	3	1	3	1	2	2	3	1	1	7			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:248343777T>C	ENST00000359682.2	+	1	490	c.490T>C	c.(490-492)Ttt>Ctt	p.F164L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTAGCCACATTTTCCTTCTC	0.418													115	182					0	0	0	0	C	248343777	T	C	248343777	3	2	195	1	0	0	0	0	1	0	0	0	11081	1493	52	5	492	5	OR2M2	1	248343777	Missense_Mutation	SNP	T	TCGA-CR-7368-01A-11D-2129-08	6298526	248343777	906844	25	34428											
KCNS3	3790	broad.mit.edu	37	chr2	18113159	18113159	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagatcctacggcttaTgaggattttccgaattctaa	10	13	9	9	2	1	2	0	1	1	1	4	4	4	3	3	3	1	1	3	3	4	6			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:18113159T>G	ENST00000403915.1	+	3	1335	c.884T>G	c.(883-885)aTg>aGg	p.M295R	KCNS3_ENST00000304101.4_Missense_Mutation_p.M295R|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	295					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTACGGCTTATGAGGATTTTC	0.498													30	61					0	0	0	0	G	18113159	T	G	18113159	3	3	195	1	0	0	0	0	1	0	0	0	8143	1464	51	5	886	5	KCNS3	2	18113159	Missense_Mutation	SNP	T	TCGA-CR-7368-01A-11D-2129-08		18113159	225086214	26	34429											
STRN	6801	broad.mit.edu	37	chr2	37126701	37126701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgcttttctctcttccatCaacatcatcatcttcatctt	8	17	2	14	1	8	0	4	0	4	0	10	1	9	0	1	0	1	1	1	0	1	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:37126701C>T	ENST00000263918.4	-	6	768	c.760G>A	c.(760-762)Gat>Aat	p.D254N	STRN_ENST00000379213.2_Missense_Mutation_p.D242N	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	254					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TCTCTTCCATCAACATCATCA	0.338													4	47					0	0	0	0	T	37126701	C	T	37126701	3	4	195	1	0	0	0	0	1	0	0	0	15419	826	29	2	1634	2	STRN	2	37126701	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	19013542	37126701	206072672	27	34430											
ABCG8	64241	broad.mit.edu	37	chr2	44079964	44079964	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccagtatttcacagccatCggctacccctgtcctcgcta	7	11	7	16	2	1	0	1	0	0	0	5	0	3	0	5	1	2	3	5	1	3	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:44079964C>T	ENST00000272286.2	+	6	1011	c.921C>T	c.(919-921)atC>atT	p.I307I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	307	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCACAGCCATCGGCTACCCCT	0.592													11	92					0	0	0	0	T	44079964	C	T	44079964	2	4	195	1	0	0	0	0	0	0	0	1	72	874	31	1		1	ABCG8	2	44079964	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	6953263	44079964	199119409	28	34431											
ABCG8	64241	broad.mit.edu	37	chr2	44102445	44102445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattatggccctggccgccgCggccctgctccccaccttcc	3	8	10	20	3	0	0	0	0	0	0	2	1	2	0	8	3	1	1	8	3	1	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:44102445C>T	ENST00000272286.2	+	11	1739	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	550	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGGCCGCCGCGGCCCTGCTC	0.617													18	49					0	0	0	0	T	44102445	C	T	44102445	3	4	195	1	0	0	0	0	1	0	0	0	72	768	27	1	1691	1	ABCG8	2	44102445	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	22481	44102445	199096928	29	34432											
USP34	9736	broad.mit.edu	37	chr2	61431396	61431396	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcccaacataccttacTggtttccaccattgtgggca	9	11	8	13	0	0	0	0	0	0	0	2	0	2	0	4	3	3	3	4	3	3	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:61431396T>C	ENST00000398571.2	-	74	9455	c.9379A>G	c.(9379-9381)Agt>Ggt	p.S3127G		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3127					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CATACCTTACTGGTTTCCACC	0.428													44	72					0	0	0	0	C	61431396	T	C	61431396	3	2	195	1	0	0	0	0	1	0	0	0	17161	1580	55	5	1289	5	USP34	2	61431396	Missense_Mutation	SNP	T	TCGA-CR-7368-01A-11D-2129-08	17328951	61431396	181767977	30	34433											
LRRTM1	347730	broad.mit.edu	37	chr2	80530075	80530075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctcgatgtaggtgaggcgGttggagtccagctgcaggga	7	8	19	7	2	0	1	0	1	0	0	2	4	1	3	1	6	2	5	1	6	1	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:80530075G>T	ENST00000295057.3	-	2	1526	c.870C>A	c.(868-870)aaC>aaA	p.N290K	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.N290K|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	290						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGGTGAGGCGGTTGGAGTCCA	0.602										HNSCC(69;0.2)			13	32					1.5739e-10	1.69862e-10	1	0	T	80530075	G	T	80530075	3	4	195	1	0	0	0	0	1	0	0	0	9103	1252	44	4	702	4	LRRTM1	2	80530075	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	19098679	80530075	162669298	31	34434											
SLC5A7	60482	broad.mit.edu	37	chr2	108604753	108604753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcatagttggtggccgaGatattggtttattggttggt	7	16	13	5	1	1	1	1	0	0	1	1	2	1	1	2	5	0	3	2	5	3	8			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:108604753G>A	ENST00000264047.2	+	2	418	c.142G>A	c.(142-144)Gat>Aat	p.D48N	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.D48N	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	48					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.D48Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGTGGCCGAGATATTGGTTT	0.527													4	66					0	0	0	0	A	108604753	G	A	108604753	3	1	195	1	0	0	0	0	1	0	0	0	14758	942	33	2	144	2	SLC5A7	2	108604753	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	28074678	108604753	134594620	32	34435											
TTL	150465	broad.mit.edu	37	chr2	113251798	113251798	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatttatccaaccaatctCaagactccagttgctccagc	11	11	6	13	0	1	2	1	1	1	1	5	2	4	2	4	0	3	2	4	0	4	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:113251798C>G	ENST00000233336.5	+	3	506	c.315C>G	c.(313-315)ctC>ctG	p.L105L		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	105	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		CAACCAATCTCAAGACTCCAG	0.443			T	ETV6	ALL								10	52					0	0	0	0	G	113251798	C	G	113251798	2	3	195	1	0	0	0	0	0	0	0	1	16817	813	29	2		2	TTL	2	113251798	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	4647045	113251798	129947575	33	34436											
UBXN4	23190	broad.mit.edu	37	chr2	136528186	136528186	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagaaaaactggaaaagaaAtgttggattataaaagaaaa	23	7	10	1	0	0	3	0	0	0	3	0	6	0	5	0	3	1	1	0	3	10	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:136528186A>G	ENST00000272638.9	+	8	1014	c.703A>G	c.(703-705)Atg>Gtg	p.M235V	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	235					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TGGAAAAGAAATGTTGGATTA	0.328													8	13					0	0	0	0	G	136528186	A	G	136528186	3	3	195	1	0	0	0	0	1	0	0	0	17012	101	4	5	733	5	UBXN4	2	136528186	Missense_Mutation	SNP	A	TCGA-CR-7368-01A-11D-2129-08	23276388	136528186	106671187	34	34437											
ARL6IP6	151188	broad.mit.edu	37	chr2	153575279	153575279	+	Frame_Shift_Del	DEL	A	A	-																															gaagtcgacgaggaggagggAtgcgaccaagtggcccgcga																										TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:153575279delA	ENST00000326446.5	+	1	852	c.141delA	c.(139-141)ggfs	p.G47fs		NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	47						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						AGGAGGAGGGATGCGACCAAG	0.706													7	17	---	---	---	---					-	153575279	A	-	153575279	7	5	195	1	0	1	0	1	0	0	0	0	949	320	12	0	143	0	ARL6IP6	2	153575279	Frame_Shift_Del	DEL	A	TCGA-CR-7368-01A-11D-2129-08	17047093	153575279	89624094	35	34438											
FAP	2191	broad.mit.edu	37	chr2	163055300	163055300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatagtacttggcgtagtCgctgaaacttgctgtgtaat	9	14	11	7	2	0	1	0	1	0	0	1	1	0	1	0	1	4	6	0	1	5	6			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:163055300C>T	ENST00000188790.4	-	16	1576	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N	FAP_ENST00000443424.1_Missense_Mutation_p.D432N	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	457					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTGGCGTAGTCGCTGAAACTT	0.468													20	41					0	0	0	0	T	163055300	C	T	163055300	3	4	195	1	0	0	0	0	1	0	0	0	5718	884	31	1	957	1	FAP	2	163055300	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	9480021	163055300	80144073	36	34439											
XIRP2	129446	broad.mit.edu	37	chr2	168103755	168103755	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaaaagatgctaaagcTgtgatggcaggatcctcggg	15	8	12	6	1	0	2	0	1	0	1	2	3	1	3	1	3	2	3	1	3	6	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:168103755T>G	ENST00000409195.1	+	9	5942	c.5853T>G	c.(5851-5853)gcT>gcG	p.A1951A	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.A1951A|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.A1729A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1776					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						ATGCTAAAGCTGTGATGGCAG	0.403													8	43					0	0	0	0	G	168103755	T	G	168103755	2	3	195	1	0	0	0	0	0	0	0	1	17526	1567	55	5		5	XIRP2	2	168103755	Silent	SNP	T	TCGA-CR-7368-01A-11D-2129-08	5048455	168103755	75095618	37	34440											
TTN	7273	broad.mit.edu	37	chr2	179635006	179635006	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaaggcaacagtggcattttCcaaggctgtcacatcctttg	11	11	9	10	0	1	0	1	0	0	0	3	0	3	0	2	3	1	3	2	3	3	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:179635006C>G	ENST00000589042.1	-	36	8646	c.8422G>C	c.(8422-8424)Gaa>Caa	p.E2808Q	TTN_ENST00000460472.2_Missense_Mutation_p.E2762Q|TTN_ENST00000342992.6_Missense_Mutation_p.E2808Q|TTN_ENST00000591111.1_Missense_Mutation_p.E2808Q|TTN_ENST00000342175.6_Missense_Mutation_p.E2762Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E2808Q|TTN_ENST00000359218.5_Missense_Mutation_p.E2762Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2546							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)			GTGGCATTTTCCAAGGCTGTC	0.408													16	88					0	0	0	0	G	179635006	C	G	179635006	3	3	195	1	0	0	0	0	1	0	0	0	16831	864	30	2	102874	2	TTN	2	179635006	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	11531251	179635006	63564367	38	34441											
COL3A1	1281	broad.mit.edu	37	chr2	189873853	189873853	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcaagtctgttaatggAcaaatagaaagcctcattag	15	11	7	8	0	4	1	3	0	1	1	4	2	4	2	1	1	1	1	1	1	6	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:189873853A>G	ENST00000304636.3	+	48	3899	c.3729A>G	c.(3727-3729)ggA>ggG	p.G1243G	COL3A1_ENST00000317840.5_Silent_p.G940G	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1243	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGTTAATGGACAAATAGAAA	0.423													5	106					0	0	0	0	G	189873853	A	G	189873853	2	3	195	1	0	0	0	0	0	0	0	1	3718	262	10	5		5	COL3A1	2	189873853	Silent	SNP	A	TCGA-CR-7368-01A-11D-2129-08	10238847	189873853	53325520	39	34442											
ANKAR	150709	broad.mit.edu	37	chr2	190559831	190559831	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttccactgacagatgctCaattacatgaacaatttaag	15	11	6	9	0	1	3	1	2	0	1	2	4	2	3	1	0	3	1	1	0	5	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:190559831C>G	ENST00000520309.1	+	6	1520	c.1432C>G	c.(1432-1434)Caa>Gaa	p.Q478E	ANKAR_ENST00000438402.2_Missense_Mutation_p.Q478E|ANKAR_ENST00000431575.2_Missense_Mutation_p.Q407E|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000313581.4_Missense_Mutation_p.Q478E|ANKAR_ENST00000281412.6_Missense_Mutation_p.Q242E	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	478						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GACAGATGCTCAATTACATGA	0.338													4	47					0	0	0	0	G	190559831	C	G	190559831	3	3	195	1	0	0	0	0	1	0	0	0	623	827	29	2	1450	2	ANKAR	2	190559831	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	685978	190559831	52639542	40	34443											
PLCL1	5334	broad.mit.edu	37	chr2	198949886	198949886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagttgccttctgatccaGatgtgttagaaggagaagta	13	11	12	5	0	1	5	0	1	1	4	2	6	2	5	2	1	1	3	2	1	5	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:198949886G>C	ENST00000428675.1	+	2	2043	c.1645G>C	c.(1645-1647)Gat>Cat	p.D549H	PLCL1_ENST00000437704.2_Missense_Mutation_p.D451H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	549	Interaction with GABA A beta subunit (By similarity).				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTCTGATCCAGATGTGTTAGA	0.413													20	41					0	0	0	0	C	198949886	G	C	198949886	3	2	195	1	0	0	0	0	1	0	0	0	12111	942	33	2	1651	2	PLCL1	2	198949886	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	8390055	198949886	44249487	41	34444											
NOP58	51602	broad.mit.edu	37	chr2	203157551	203157551	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctatgaatatctacaaaatCgaatgatggccattgcaccc	14	11	6	10	1	2	2	0	2	2	0	3	3	2	2	2	1	2	1	2	1	7	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:203157551C>T	ENST00000264279.5	+	9	1058	c.832C>T	c.(832-834)Cga>Tga	p.R278*		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	278	Nop.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TCTACAAAATCGAATGATGGC	0.358													7	106					0	0	0	0	T	203157551	C	T	203157551	4	4	195	1	0	0	0	0	0	1	0	0	10610	876	31	1	866	1	NOP58	2	203157551	Nonsense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	4207665	203157551	40041822	42	34445											
SPEG	10290	broad.mit.edu	37	chr2	220354138	220354138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcccggcctcctgactctCctacctcactggccccaccc	4	7	8	22	1	2	1	1	1	1	0	4	1	3	1	8	3	1	0	8	3	1	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:220354138C>T	ENST00000312358.7	+	36	8530	c.8398C>T	c.(8398-8400)Cct>Tct	p.P2800S	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2800	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCTGACTCTCCTACCTCACT	0.627													4	15					0	0	0	0	T	220354138	C	T	220354138	3	4	195	1	0	0	0	0	1	0	0	0	15126	855	30	2	8552	2	SPEG	2	220354138	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	17196587	220354138	22845235	43	34446											
UGT1A10	54575	broad.mit.edu	37	chr2	234545520	234545520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcatccagtggttttcttGacttatttttttcgcattgc	5	21	7	8	1	2	1	1	1	1	0	4	1	3	1	1	1	1	3	1	1	1	9	rs45458396		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:234545520G>C	ENST00000344644.5	+	1	421	c.352G>C	c.(352-354)Gac>Cac	p.D118H	UGT1A10_ENST00000373445.1_Missense_Mutation_p.D118H|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGTTTTCTTGACTTATTTTT	0.368													13	106					0	0	0	0	C	234545520	G	C	234545520	3	2	195	1	0	0	0	0	1	0	0	0	17041	1290	45	2	354	2	UGT1A10	2	234545520	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	14191382	234545520	8653853	44	34447											
CNTN6	27255	broad.mit.edu	37	chr3	1363508	1363508	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccttgcaaagggtcaactCattttttatggtgagctaat	12	14	8	7	0	2	1	2	1	0	0	2	1	2	1	1	2	4	2	1	2	5	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:1363508C>G	ENST00000446702.2	+	8	1563	c.936C>G	c.(934-936)ctC>ctG	p.L312L	CNTN6_ENST00000350110.2_Silent_p.L312L|CNTN6_ENST00000539053.1_Silent_p.L240L			Q9UQ52	CNTN6_HUMAN	contactin 6	312					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGGGTCAACTCATTTTTTATG	0.348													21	25					0	0	0	0	G	1363508	C	G	1363508	2	3	195	1	0	0	0	0	0	0	0	1	3675	813	29	2		2	CNTN6	3	1363508	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08		1363508	196658922	45	34448											
CAPN7	23473	broad.mit.edu	37	chr3	15276644	15276644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctgttttggatattagaGagttcaaggttttgccttaa	10	17	10	4	0	1	1	1	0	0	1	1	3	1	2	1	2	2	4	1	2	4	8			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:15276644G>C	ENST00000253693.2	+	12	1652	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	467	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						GGATATTAGAGAGTTCAAGGT	0.393													5	22					0	0	0	0	C	15276644	G	C	15276644	3	2	195	1	0	0	0	0	1	0	0	0	2656	943	33	2	1445	2	CAPN7	3	15276644	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	13913136	15276644	182745786	46	34449											
SATB1	6304	broad.mit.edu	37	chr3	18390856	18390856	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtttgccgtggtgcttgaGatagtaccgctggttctgaa	7	13	13	8	2	1	2	0	2	1	1	1	3	1	2	2	2	3	5	2	2	3	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:18390856G>C	ENST00000338745.6	-	11	3832	c.2098C>G	c.(2098-2100)Ctc>Gtc	p.L700V	SATB1_ENST00000454909.2_Missense_Mutation_p.L700V|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.L732V	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	700					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGGTGCTTGAGATAGTACCGC	0.507													7	134					0	0	0	0	C	18390856	G	C	18390856	3	2	195	1	0	0	0	0	1	0	0	0	13939	942	33	2	197	2	SATB1	3	18390856	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	3114212	18390856	179631574	47	34450											
SNRK	54861	broad.mit.edu	37	chr3	43344765	43344765	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctggataaaaccttgggtCgaggccattttgccgtggtt	8	13	12	8	2	1	0	0	0	1	0	2	2	1	1	3	4	2	1	3	4	2	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:43344765C>T	ENST00000296088.7	+	3	374	c.70C>T	c.(70-72)Cga>Tga	p.R24*	SNRK_ENST00000454177.1_Nonsense_Mutation_p.R24*|SNRK_ENST00000437827.1_Intron|SNRK_ENST00000429705.2_Nonsense_Mutation_p.R24*|SNRK_ENST00000462810.1_3'UTR	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	24	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AACCTTGGGTCGAGGCCATTT	0.423													22	27					0	0	0	0	T	43344765	C	T	43344765	4	4	195	1	0	0	0	0	0	1	0	0	14939	876	31	1	72	1	SNRK	3	43344765	Nonsense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	24953909	43344765	154677665	48	34451											
MAP4	4134	broad.mit.edu	37	chr3	47957727	47957727	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagacatacgttcttgatGagaactacttctgtttctgg	9	14	10	8	1	3	3	0	2	3	2	3	4	3	3	0	2	3	3	0	2	3	6			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:47957727G>A	ENST00000426837.2	-	8	1728	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Silent_p.L530L|MAP4_ENST00000360240.6_Silent_p.L530L			P27816	MAP4_HUMAN	microtubule-associated protein 4	530					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CGTTCTTGATGAGAACTACTT	0.502													36	33					0	0	0	0	A	47957727	G	A	47957727	2	1	195	1	0	0	0	0	0	0	0	1	9327	1277	45	2		2	MAP4	3	47957727	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	4612962	47957727	150064703	49	34452											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085380	64085380	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtctctgtagccaaTggggttgctgagctggtgga	6	11	16	8	0	1	1	0	1	1	0	2	2	1	2	1	5	4	5	1	5	2	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:64085380T>A	ENST00000295902.6	-	8	2467	c.1882A>T	c.(1882-1884)Att>Ttt	p.I628F	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.I684F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	628						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTGTAGCCAATGGGGTTGCTG	0.602													35	34					0	0	0	0	A	64085380	T	A	64085380	3	1	195	1	0	0	0	0	1	0	0	0	12567	1464	51	5	656	5	PRICKLE2	3	64085380	Missense_Mutation	SNP	T	TCGA-CR-7368-01A-11D-2129-08	16127653	64085380	133937050	50	34453											
CD80	941	broad.mit.edu	37	chr3	119246643	119246643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggcgtacactttcccttCtcaatctctcattcctcctt	6	15	4	16	1	3	0	2	0	2	0	8	0	6	0	3	1	1	1	3	1	2	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:119246643C>T	ENST00000264246.3	-	6	1204	c.842G>A	c.(841-843)aGa>aAa	p.R281K	CD80_ENST00000478182.1_Missense_Mutation_p.R281K|CD80_ENST00000383668.3_Missense_Mutation_p.R155K|CD80_ENST00000383669.3_Missense_Mutation_p.R249K	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	281					interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	ACTTTCCCTTCTCAATCTCTC	0.453													11	95					0	0	0	0	T	119246643	C	T	119246643	3	4	195	1	0	0	0	0	1	0	0	0	3067	913	32	2	28	2	CD80	3	119246643	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	55161263	119246643	78775787	51	34454											
PODXL2	50512	broad.mit.edu	37	chr3	127379318	127379318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctctcccttgcccaagatGaatctggttgagcctccctg	6	11	8	16	0	2	3	0	2	2	1	4	3	3	3	5	1	2	1	5	1	2	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:127379318G>A	ENST00000342480.6	+	3	486	c.447G>A	c.(445-447)atG>atA	p.M149I		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	149					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						TGCCCAAGATGAATCTGGTTG	0.512													17	68					0	0	0	0	A	127379318	G	A	127379318	3	1	195	1	0	0	0	0	1	0	0	0	12253	1290	45	2	457	2	PODXL2	3	127379318	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	8132675	127379318	70643112	52	34455											
DNAJC13	23317	broad.mit.edu	37	chr3	132196904	132196904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtttatgtttacaagccCttgctattgtttatggcaga	9	17	9	6	0	0	1	0	0	0	1	0	1	0	1	1	1	3	5	1	1	5	9			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:132196904C>T	ENST00000260818.6	+	24	2877	c.2629C>T	c.(2629-2631)Ctt>Ttt	p.L877F		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	877							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTTACAAGCCCTTGCTATTGT	0.333													22	92					0	0	0	0	T	132196904	C	T	132196904	3	4	195	1	0	0	0	0	1	0	0	0	4668	681	24	4	2719	4	DNAJC13	3	132196904	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	4817586	132196904	65825526	53	34456											
RFC4	5984	broad.mit.edu	37	chr3	186507820	186507820	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgatgagttgcaaatgttCatcagcaccatctgctaggc	10	11	10	10	0	3	2	2	2	1	0	3	2	3	2	1	1	3	6	1	1	2	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:186507820C>G	ENST00000392481.2	-	11	1311	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	RFC4_ENST00000433496.1_Missense_Mutation_p.E317Q|RFC4_ENST00000296273.2_Missense_Mutation_p.E344Q	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	344					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TGCAAATGTTCATCAGCACCA	0.378													9	79					0	0	0	0	G	186507820	C	G	186507820	3	3	195	1	0	0	0	0	1	0	0	0	13329	835	29	2	65	2	RFC4	3	186507820	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	54310916	186507820	11514610	54	34457											
RFC4	5984	broad.mit.edu	37	chr3	186507847	186507847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatctgctaggcatttgtCaacttcctacgagaaaaatt	13	12	6	10	1	2	1	1	0	1	1	3	2	3	1	2	1	3	2	2	1	5	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:186507847C>T	ENST00000392481.2	-	11	1284	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	RFC4_ENST00000433496.1_Missense_Mutation_p.D308N|RFC4_ENST00000296273.2_Missense_Mutation_p.D335N	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	335					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AGGCATTTGTCAACTTCCTAC	0.378													9	71					0	0	0	0	T	186507847	C	T	186507847	3	4	195	1	0	0	0	0	1	0	0	0	13329	826	29	2	92	2	RFC4	3	186507847	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	27	186507847	11514583	55	34458											
EVC	2121	broad.mit.edu	37	chr4	5811288	5811288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgagctggcagccttggcccGagtgccccttgctgaaagca	7	7	13	14	2	0	1	0	1	0	0	0	3	0	1	4	2	5	4	4	2	1	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:5811288G>A	ENST00000382674.2	+	19	2916	c.2732G>A	c.(2731-2733)cGa>cAa	p.R911Q	EVC_ENST00000264956.6_Missense_Mutation_p.R911Q			P57679	EVC_HUMAN	Ellis van Creveld syndrome	911					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GCCTTGGCCCGAGTGCCCCTT	0.552													6	49					0	0	0	0	A	5811288	G	A	5811288	3	1	195	1	0	0	0	0	1	0	0	0	5323	1058	37	1	2806	1	EVC	4	5811288	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08		5811288	185342988	56	34459											
UBA6	55236	broad.mit.edu	37	chr4	68543386	68543386	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaggaacagaagatgaTgtgacatgaacgtatggatt	16	10	12	3	1	0	6	0	4	0	2	0	8	0	8	0	2	2	1	0	2	5	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:68543386T>A	ENST00000322244.4	-	6	467	c.408A>T	c.(406-408)acA>acT	p.T136T	UBA6_ENST00000420827.2_Silent_p.T136T	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	136					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CAGAAGATGATGTGACATGAA	0.308													28	38					0	0	0	0	A	68543386	T	A	68543386	2	1	195	1	0	0	0	0	0	0	0	1	16928	1451	51	5		5	UBA6	4	68543386	Silent	SNP	T	TCGA-CR-7368-01A-11D-2129-08	62732098	68543386	122610890	57	34460											
G3BP2	9908	broad.mit.edu	37	chr4	76572243	76572243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctttagctcattttcatCaatatcatgtggcaagttac	10	17	5	9	0	4	0	4	0	0	0	5	0	5	0	1	1	2	3	1	1	5	7			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:76572243C>G	ENST00000359707.4	-	10	1812	c.1027G>C	c.(1027-1029)Gat>Cat	p.D343H	G3BP2_ENST00000395719.3_Missense_Mutation_p.D343H|G3BP2_ENST00000357854.3_Missense_Mutation_p.D310H	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	343	RRM.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCATTTTCATCAATATCATGT	0.338													8	41					0	0	0	0	G	76572243	C	G	76572243	3	3	195	1	0	0	0	0	1	0	0	0	6190	826	29	2	433	2	G3BP2	4	76572243	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	8028857	76572243	114582033	58	34461											
PTPN13	5783	broad.mit.edu	37	chr4	87671658	87671658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagcctgaatctccaagcaGagtctgttagaggatttaat	12	11	11	7	0	2	3	0	1	2	2	3	5	2	5	2	2	2	2	2	2	4	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:87671658G>A	ENST00000436978.1	+	18	3166	c.2686G>A	c.(2686-2688)Gag>Aag	p.E896K	PTPN13_ENST00000427191.2_Missense_Mutation_p.E896K|PTPN13_ENST00000411767.2_Missense_Mutation_p.E896K|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000511467.1_Missense_Mutation_p.E896K	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	896						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCTCCAAGCAGAGTCTGTTAG	0.438													9	176					0	0	0	0	A	87671658	G	A	87671658	3	1	195	1	0	0	0	0	1	0	0	0	12862	943	33	2	2752	2	PTPN13	4	87671658	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	11099415	87671658	103482618	59	34462											
MFSD8	256471	broad.mit.edu	37	chr4	128878725	128878725	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggctcttataatgctcttCagtctctaaaatgtcccatt	9	16	5	11	1	4	0	1	0	3	0	7	0	5	0	1	1	1	2	1	1	4	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:128878725C>G	ENST00000296468.3	-	3	212	c.85G>C	c.(85-87)Gaa>Caa	p.E29Q	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_5'UTR|MFSD8_ENST00000513559.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	29					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TAATGCTCTTCAGTCTCTAAA	0.299													15	92					0	0	0	0	G	128878725	C	G	128878725	3	3	195	1	0	0	0	0	1	0	0	0	9607	835	29	2	1515	2	MFSD8	4	128878725	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	41207067	128878725	62275551	60	34463											
FHDC1	85462	broad.mit.edu	37	chr4	153897181	153897181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccatcaccaagtccagcaGaggcgccggctggaggcgac	9	3	14	15	3	1	1	1	0	0	1	2	3	2	2	4	4	1	2	4	4	1	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:153897181G>A	ENST00000511601.1	+	12	2926	c.2738G>A	c.(2737-2739)aGa>aAa	p.R913K	FHDC1_ENST00000260008.3_Missense_Mutation_p.R913K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	913					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAGTCCAGCAGAGGCGCCGGC	0.672													5	30					0	0	0	0	A	153897181	G	A	153897181	3	1	195	1	0	0	0	0	1	0	0	0	5921	942	33	2	2780	2	FHDC1	4	153897181	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	25018456	153897181	37257095	61	34464											
DCHS2	54798	broad.mit.edu	37	chr4	155157796	155157796	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccttgacatgggtgtgatAgctcaggctgctgaagtttg	7	14	13	7	0	1	3	1	3	0	0	2	3	2	3	1	2	2	4	1	2	2	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:155157796A>T	ENST00000357232.3	-	25	6642	c.6643T>A	c.(6643-6645)Tat>Aat	p.Y2215N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2215	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGTGTGATAGCTCAGGCTG	0.488													4	69					0	0	0	0	T	155157796	A	T	155157796	3	4	195	1	0	0	0	0	1	0	0	0	4320	420	15	5	2111	5	DCHS2	4	155157796	Missense_Mutation	SNP	A	TCGA-CR-7368-01A-11D-2129-08	1260615	155157796	35996480	62	34465											
FASTKD3	79072	broad.mit.edu	37	chr5	7867461	7867461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaaatgtttccaatttttCaccttgaagttgatttataa	12	18	6	5	0	1	2	1	2	0	0	2	2	2	2	2	1	0	3	2	1	6	9			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:7867461C>T	ENST00000264669.5	-	2	872	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	246					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCAATTTTTCACCTTGAAGT	0.373													9	119					0	0	0	0	T	7867461	C	T	7867461	3	4	195	1	0	0	0	0	1	0	0	0	5732	835	29	2	1276	2	FASTKD3	5	7867461	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08		7867461	173047799	63	34466			1	53		3	3	238	C		1.596013e-06
FASTKD3	79072	broad.mit.edu	37	chr5	7867642	7867642	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatccacatgcaacagaatCagagcttgcaaagcagtcac	15	6	9	11	0	2	2	2	0	0	2	3	3	3	3	1	1	5	4	1	1	3	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:7867642C>G	ENST00000264669.5	-	2	691	c.555G>C	c.(553-555)ctG>ctC	p.L185L	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	185					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCAACAGAATCAGAGCTTGCA	0.433													10	127					0	0	0	0	G	7867642	C	G	7867642	2	3	195	1	0	0	0	0	0	0	0	1	5732	813	29	2		2	FASTKD3	5	7867642	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	181	7867642	173047618	64	34467			1	53		3	3	238	C		1.596013e-06
FASTKD3	79072	broad.mit.edu	37	chr5	7867698	7867698	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctgtgagggctccttttCaaactgaaagcataaagctt	12	11	9	9	0	1	2	1	2	0	0	2	2	2	2	1	1	4	4	1	1	4	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:7867698C>G	ENST00000264669.5	-	2	635	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	167					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTCCTTTTCAAACTGAAAG	0.413													8	108					0	0	0	0	G	7867698	C	G	7867698	3	3	195	1	0	0	0	0	1	0	0	0	5732	835	29	2	1513	2	FASTKD3	5	7867698	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	56	7867698	173047562	65	34468			1	53		3	3	238	C		1.596013e-06
SEMA5A	9037	broad.mit.edu	37	chr5	9052056	9052056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggagcactggctgcccatgGggaacaggaggatgcactgg	9	5	17	10	1	0	0	0	0	0	0	0	4	0	4	1	7	4	3	1	7	1	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:9052056G>T	ENST00000382496.5	-	20	3439	c.2774C>A	c.(2773-2775)cCc>cAc	p.P925H		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	925	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTGCCCATGGGGAACAGGAG	0.572													10	32					0.000978159	0.00100994	1	0	T	9052056	G	T	9052056	3	4	195	1	0	0	0	0	1	0	0	0	14124	1232	43	4	466	4	SEMA5A	5	9052056	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	1184358	9052056	171863204	66	34469											
RANBP3L	202151	broad.mit.edu	37	chr5	36251470	36251470	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattctcatcacagctttcGcagttcaattgttgggctgt	7	16	8	10	1	4	0	4	0	1	0	6	0	4	0	0	1	1	5	0	1	1	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:36251470G>A	ENST00000296604.3	-	13	1784	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	RANBP3L_ENST00000502994.1_Silent_p.C458C	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	433					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CACAGCTTTCGCAGTTCAATT	0.373													19	37					0	0	0	0	A	36251470	G	A	36251470	2	1	195	1	0	0	0	0	0	0	0	1	13112	1079	38	1		1	RANBP3L	5	36251470	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	27199414	36251470	144663790	67	34470											
EGFLAM	133584	broad.mit.edu	37	chr5	38407099	38407099	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccatacagagaaaggggaAgaatggtgtggccataatgt	14	8	13	6	0	0	2	0	0	0	2	1	4	1	3	2	4	1	0	2	4	5	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:38407099A>G	ENST00000322350.5	+	8	1344	c.998A>G	c.(997-999)aAg>aGg	p.K333R	EGFLAM_ENST00000336740.6_Missense_Mutation_p.K99R|EGFLAM_ENST00000354891.3_Missense_Mutation_p.K333R|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	333						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGAAAGGGGAAGAATGGTGTG	0.532													29	106					0	0	0	0	G	38407099	A	G	38407099	3	3	195	1	0	0	0	0	1	0	0	0	5002	72	3	5	1042	5	EGFLAM	5	38407099	Missense_Mutation	SNP	A	TCGA-CR-7368-01A-11D-2129-08	2155629	38407099	142508161	68	34471											
LIFR	3977	broad.mit.edu	37	chr5	38510674	38510674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatcttgattgcaacattttCcccatcaagatggatcaagg	13	12	7	9	0	3	2	2	1	1	1	4	3	4	3	2	2	2	1	2	2	4	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:38510674C>T	ENST00000263409.4	-	7	1045	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.E295K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	295					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCAACATTTTCCCCATCAAGA	0.363			T	PLAG1	salivary adenoma								5	79					0	0	0	0	T	38510674	C	T	38510674	3	4	195	1	0	0	0	0	1	0	0	0	8834	864	30	2	2466	2	LIFR	5	38510674	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	103575	38510674	142404586	69	34472											
RICTOR	253260	broad.mit.edu	37	chr5	38944623	38944623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaatcttagaacttctttgCgaaggagtatacggcacatt	12	13	8	8	2	2	1	0	0	2	1	2	3	2	2	0	2	3	2	0	2	6	7			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:38944623C>T	ENST00000357387.3	-	36	4868	c.4838G>A	c.(4837-4839)cGc>cAc	p.R1613H	RICTOR_ENST00000296782.5_Missense_Mutation_p.R1637H	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1613					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AACTTCTTTGCGAAGGAGTAT	0.333													28	86					0	0	0	0	T	38944623	C	T	38944623	3	4	195	1	0	0	0	0	1	0	0	0	13441	768	27	1	300	1	RICTOR	5	38944623	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	433949	38944623	141970637	70	34473											
ITGA2	3673	broad.mit.edu	37	chr5	52371079	52371079	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaagaaaacaaggctgatAatttggtcaacctcaaaatt	19	9	7	6	0	2	3	2	1	0	2	2	3	2	3	1	2	2	1	1	2	9	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:52371079A>T	ENST00000296585.5	+	23	2913	c.2770A>T	c.(2770-2772)Aat>Tat	p.N924Y		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	924					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAAGGCTGATAATTTGGTCAA	0.368													9	27					0	0	0	0	T	52371079	A	T	52371079	3	4	195	1	0	0	0	0	1	0	0	0	7928	362	13	5	2860	5	ITGA2	5	52371079	Missense_Mutation	SNP	A	TCGA-CR-7368-01A-11D-2129-08	13426456	52371079	128544181	71	34474											
CCDC125	202243	broad.mit.edu	37	chr5	68616157	68616157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaatactgaaaactcgcttCatttctttcttctccctttc	8	17	4	12	1	4	1	1	1	3	0	7	2	4	2	1	1	2	1	1	1	4	6			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:68616157C>G	ENST00000396496.2	-	2	318	c.211G>C	c.(211-213)Gaa>Caa	p.E71Q	CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000383374.2_Missense_Mutation_p.E71Q|CCDC125_ENST00000511257.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.E71Q			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	71						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		AAACTCGCTTCATTTCTTTCT	0.388													54	56					0	0	0	0	G	68616157	C	G	68616157	3	3	195	1	0	0	0	0	1	0	0	0	2786	835	29	2	1368	2	CCDC125	5	68616157	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	16245078	68616157	112299103	72	34475											
POLK	51426	broad.mit.edu	37	chr5	74879221	74879221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagctgtgatggacttcatCaaggatttacccattagaaa	14	11	8	8	0	2	2	2	1	0	1	2	4	2	4	1	2	2	1	1	2	5	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:74879221C>G	ENST00000241436.4	+	8	1210	c.1038C>G	c.(1036-1038)atC>atG	p.I346M	POLK_ENST00000508526.1_Intron|POLK_ENST00000352007.5_Intron|POLK_ENST00000504026.1_Missense_Mutation_p.I346M|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.I256M|POLK_ENST00000515295.1_Missense_Mutation_p.I346M	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	346	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TGGACTTCATCAAGGATTTAC	0.323								DNA polymerases (catalytic subunits)					17	37					0	0	0	0	G	74879221	C	G	74879221	3	3	195	1	0	0	0	0	1	0	0	0	12276	816	29	2	1064	2	POLK	5	74879221	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	6263064	74879221	106036039	73	34476											
SV2C	22987	broad.mit.edu	37	chr5	75490760	75490760	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggcagcatagtgtacctCgggatgatggtgggggcgtt	7	9	18	7	2	0	1	0	1	0	0	1	2	0	2	1	5	2	5	1	5	2	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:75490760C>T	ENST00000502798.2	+	3	1039	c.597C>T	c.(595-597)ctC>ctT	p.L199L	SV2C_ENST00000322285.7_Silent_p.L199L	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	199					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TAGTGTACCTCGGGATGATGG	0.468													13	125					0	0	0	0	T	75490760	C	T	75490760	2	4	195	1	0	0	0	0	0	0	0	1	15509	871	31	1		1	SV2C	5	75490760	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	611539	75490760	105424500	74	34477											
CMYA5	202333	broad.mit.edu	37	chr5	79030703	79030703	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaagaagatagccaggaaAaaattaaactacctcctgaa	20	6	6	9	0	0	3	0	1	0	2	1	4	1	4	4	1	3	0	4	1	10	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:79030703A>G	ENST00000446378.2	+	2	6146	c.6115A>G	c.(6115-6117)Aaa>Gaa	p.K2039E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2039						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGCCAGGAAAAAATTAAACT	0.428													23	22					0	0	0	0	G	79030703	A	G	79030703	3	3	195	1	0	0	0	0	1	0	0	0	3620	15	1	5	6121	5	CMYA5	5	79030703	Missense_Mutation	SNP	A	TCGA-CR-7368-01A-11D-2129-08	3539943	79030703	101884557	75	34478											
PCDHA2	56146	broad.mit.edu	37	chr5	140175902	140175902	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgacgtgaacgacaaCgcgccggcgttcgcacagcc	8	4	14	15	8	0	1	0	1	0	0	1	3	0	1	3	2	3	2	3	2	2	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:140175902C>T	ENST00000526136.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.N451N|PCDHA2_ENST00000378132.1_Silent_p.N451N	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCGCCGGCGT	0.647													39	44					0	0	0	0	T	140175902	C	T	140175902	2	4	195	1	0	0	0	0	0	0	0	1	11595	535	19	1		1	PCDHA2	5	140175902	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	61145199	140175902	40739358	76	34479											
PCDHB6	56130	broad.mit.edu	37	chr5	140529865	140529865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaactaaagtacagaacaaGaaaaggcaagtggctttctt	18	8	8	7	0	1	2	0	0	1	2	1	2	1	2	0	2	3	3	0	2	9	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:140529865G>C	ENST00000231136.1	+	1	27	c.27G>C	c.(25-27)aaG>aaC	p.K9N	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		9					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACAGAACAAGAAAAGGCAAG	0.433													15	57					0	0	0	0	C	140529865	G	C	140529865	3	2	195	1	0	0	0	0	1	0	0	0	11617	933	33	2	29	2	PCDHB6	5	140529865	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	353963	140529865	40385395	77	34480											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768638	140768638	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttaaaatattaacttcttCaagaaacacgtataaattag	19	14	3	5	1	2	1	1	0	1	1	2	1	2	1	0	0	2	1	0	0	10	9			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:140768638C>G	ENST00000519479.1	+	1	1187	c.1187C>G	c.(1186-1188)tCa>tGa	p.S396*	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAACTTCTTCAAGAAACACG	0.418													6	77					0	0	0	0	G	140768638	C	G	140768638	4	3	195	1	0	0	0	0	0	1	0	0	11636	838	29	2	1189	2	PCDHGB4	5	140768638	Nonsense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	238773	140768638	40146622	78	34481											
RNF14	9604	broad.mit.edu	37	chr5	141353158	141353158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgttttcaggtccttatgtCgtcagaagatcgagaagctc	10	13	10	8	2	2	3	2	0	0	3	6	4	3	3	1	1	1	2	1	1	3	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:141353158C>T	ENST00000394520.2	+	3	314	c.5C>T	c.(4-6)tCg>tTg	p.S2L	RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000394519.1_Missense_Mutation_p.S2L|RNF14_ENST00000356143.1_Missense_Mutation_p.S2L|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000347642.3_Missense_Mutation_p.S2L|RNF14_ENST00000394515.3_Missense_Mutation_p.S2L|RNF14_ENST00000540015.1_Missense_Mutation_p.S2L|AC005740.5_ENST00000520882.1_RNA	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	2					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	p.S2L(1)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GTCCTTATGTCGTCAGAAGAT	0.463													8	37					0	0	0	0	T	141353158	C	T	141353158	3	4	195	1	0	0	0	0	1	0	0	0	13528	893	31	1	7	1	RNF14	5	141353158	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	584520	141353158	39562102	79	34482											
ABLIM3	22885	broad.mit.edu	37	chr5	148619423	148619423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcatgtcccccaccttctcCcgctcacctcaccactacta	7	9	4	21	1	3	0	2	0	1	0	5	0	4	0	6	1	1	2	6	1	2	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:148619423C>T	ENST00000506113.1	+	12	1658	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	ABLIM3_ENST00000508983.1_Silent_p.S392S|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000356541.3_Silent_p.S330S|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000309868.7_Silent_p.S392S|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000504238.1_Silent_p.S330S|ABLIM3_ENST00000326685.7_Silent_p.S330S			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	392					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTTCTCCCGCTCACCTC	0.627													35	35					0	0	0	0	T	148619423	C	T	148619423	2	4	195	1	0	0	0	0	0	0	0	1	96	610	22	4		4	ABLIM3	5	148619423	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	7266265	148619423	32295837	80	34483											
PDGFRB	5159	broad.mit.edu	37	chr5	149516593	149516593	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgagggccagagctggcatCgcacccggaagccgcatggt	8	6	15	12	3	0	2	0	1	0	1	1	3	0	3	3	4	2	4	3	4	1	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:149516593C>T	ENST00000261799.4	-	2	487	c.18G>A	c.(16-18)gcG>gcA	p.A6A		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	6					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGCTGGCATCGCACCCGGAA	0.647			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								3	21					0	0	0	0	T	149516593	C	T	149516593	2	4	195	1	0	0	0	0	0	0	0	1	11733	871	31	1		1	PDGFRB	5	149516593	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	897170	149516593	31398667	81	34484											
GABRA1	2554	broad.mit.edu	37	chr5	161322867	161322867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggcaaaagtgtggttcCagaaaaggtaaatgctttaa	15	10	12	4	0	0	1	0	0	0	1	1	2	1	2	1	4	1	4	1	4	7	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:161322867C>A	ENST00000428797.2	+	10	1407	c.1052C>A	c.(1051-1053)cCa>cAa	p.P351Q	GABRA1_ENST00000393943.4_Missense_Mutation_p.P351Q|GABRA1_ENST00000444819.1_Missense_Mutation_p.P351Q|GABRA1_ENST00000437025.2_Missense_Mutation_p.P351Q|GABRA1_ENST00000023897.6_Missense_Mutation_p.P351Q|GABRA1_ENST00000420560.1_Missense_Mutation_p.P351Q	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	351					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AGTGTGGTTCCAGAAAAGGTA	0.398													31	35					4.74835e-14	5.16361e-14	1	0	A	161322867	C	A	161322867	3	1	195	1	0	0	0	0	1	0	0	0	6208	594	21	4	1082	4	GABRA1	5	161322867	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	11806274	161322867	19592393	82	34485											
BTNL9	153579	broad.mit.edu	37	chr5	180472573	180472573	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcctcatgcacctcctcctCcttcagcctggggagccgag	5	10	9	17	1	2	0	2	0	0	0	6	2	6	1	7	2	3	1	7	2	0	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:180472573C>T	ENST00000327705.9	+	2	315	c.84C>T	c.(82-84)ctC>ctT	p.L28L	BTNL9_ENST00000376841.2_Silent_p.L28L|BTNL9_ENST00000376842.3_Silent_p.L28L|BTNL9_ENST00000515271.1_Intron	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	28						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTCCTCCTCCTTCAGCCTG	0.607													5	39					0	0	0	0	T	180472573	C	T	180472573	2	4	195	1	0	0	0	0	0	0	0	1	1577	842	30	2		2	BTNL9	5	180472573	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	19149706	180472573	442687	83	34486											
SYCP2L	221711	broad.mit.edu	37	chr6	10894396	10894396	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctcgtagatggcctgaaaGaagatgaacctctgctaatt	12	11	9	9	1	1	5	0	2	1	3	3	5	2	5	3	1	2	2	3	1	5	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:10894396G>C	ENST00000283141.6	+	4	591	c.295G>C	c.(295-297)Gaa>Caa	p.E99Q	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	99						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGGCCTGAAAGAAGATGAACC	0.383													5	131					0	0	0	0	C	10894396	G	C	10894396	3	2	195	1	0	0	0	0	1	0	0	0	15524	943	33	2	309	2	SYCP2L	6	10894396	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08		10894396	160220671	84	34487											
HIST1H2AB	8335	broad.mit.edu	37	chr6	26033738	26033738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaactgcaaacctgcacgaGaagaccgagtcttagccttg	13	7	10	11	2	1	2	0	0	1	2	1	5	1	2	3	0	5	2	3	0	4	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:26033738G>C	ENST00000259791.2	-	1	58	c.59C>G	c.(58-60)tCt>tGt	p.S20C		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	20					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						ACCTGCACGAGAAGACCGAGT	0.572													5	106					0	0	0	0	C	26033738	G	C	26033738	3	2	195	1	0	0	0	0	1	0	0	0	7179	942	33	2	337	2	HIST1H2AB	6	26033738	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	15139342	26033738	145081329	85	34488											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28215883	28215883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggaagctaccattgcatCttctctgcagcaccctccct	7	11	6	17	0	2	0	0	0	2	0	4	1	3	1	4	1	5	4	4	1	2	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:28215883C>G	ENST00000377294.2	-	3	859	c.616G>C	c.(616-618)Gat>Cat	p.D206H	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.D51H	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	206					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ACCATTGCATCTTCTCTGCAG	0.572													9	18					0	0	0	0	G	28215883	C	G	28215883	3	3	195	1	0	0	0	0	1	0	0	0	17784	913	32	2	1033	2	ZKSCAN4	6	28215883	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	2182145	28215883	142899184	86	34489											
NOTCH4	4855	broad.mit.edu	37	chr6	32169064	32169064	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttacccagagtcctaccctCagagtcagggacagcacccg	10	6	9	16	1	2	2	2	0	0	2	3	3	3	3	4	1	3	1	4	1	2	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:32169064C>G	ENST00000375023.3	-	22	4107	c.3969G>C	c.(3967-3969)ctG>ctC	p.L1323L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1323					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTCCTACCCTCAGAGTCAGGG	0.642													7	67					0	0	0	0	G	32169064	C	G	32169064	2	3	195	1	0	0	0	0	0	0	0	1	10621	813	29	2		2	NOTCH4	6	32169064	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	3953181	32169064	138946003	87	34490											
SPDEF	25803	broad.mit.edu	37	chr6	34512160	34512160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccttctccaagcctgtccGcgacaccgtgtcggggggca	5	7	13	16	5	1	0	0	0	1	0	4	1	2	0	5	3	1	1	5	3	1	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:34512160G>A	ENST00000374037.3	-	2	487	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	SPDEF_ENST00000544425.1_Missense_Mutation_p.R25W	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	25					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						AAGCCTGTCCGCGACACCGTG	0.716													5	36					0	0	0	0	A	34512160	G	A	34512160	3	1	195	1	0	0	0	0	1	0	0	0	15116	1086	38	1	954	1	SPDEF	6	34512160	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	2343096	34512160	136602907	88	34491											
KCNK16	83795	broad.mit.edu	37	chr6	39283006	39283006	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggatggagtggtctaaatCtctcctggtcagggatgttg	7	12	15	7	1	3	0	1	0	2	0	5	3	4	3	1	5	0	1	1	5	2	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:39283006C>G	ENST00000425054.2	-	5	862	c.863G>C	c.(862-864)aGa>aCa	p.R288T	KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000373229.5_Intron|KCNK16_ENST00000507712.1_Intron	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TGGTCTAAATCTCTCCTGGTC	0.552													10	22					0	0	0	0	G	39283006	C	G	39283006	3	3	195	1	0	0	0	0	1	0	0	0	8116	913	32	2	231	2	KCNK16	6	39283006	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	4770846	39283006	131832061	89	34492											
PRICKLE4	29964	broad.mit.edu	37	chr6	41753185	41753185	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggcctgtggccaggccctGataaacctcatctacttcta	9	10	8	14	0	3	1	1	1	2	0	3	1	3	1	4	3	2	0	4	3	4	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:41753185G>C	ENST00000359201.5	+	5	1078	c.489G>C	c.(487-489)ctG>ctC	p.L163L	PRICKLE4_ENST00000458694.1_Silent_p.L163L|PRICKLE4_ENST00000394259.1_Silent_p.L123L|PRICKLE4_ENST00000394260.1_Silent_p.L123L|PRICKLE4_ENST00000394263.1_Silent_p.L163L			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	123	LIM zinc-binding 2.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCAGGCCCTGATAAACCTCA	0.617													5	58					0	0	0	0	C	41753185	G	C	41753185	2	2	195	1	0	0	0	0	0	0	0	1	12569	1277	45	2		2	PRICKLE4	6	41753185	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	2470179	41753185	129361882	90	34493											
PKHD1	5314	broad.mit.edu	37	chr6	51890330	51890330	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacacaagtaaaaggaccCgagaggtcaacccgaactga	17	4	9	11	2	2	2	2	1	0	1	2	5	2	3	2	2	2	1	2	2	5	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:51890330C>T	ENST00000371117.3	-	32	4553	c.4278G>A	c.(4276-4278)tcG>tcA	p.S1426S	PKHD1_ENST00000340994.4_Silent_p.S1426S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1426	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAAAAGGACCCGAGAGGTCAA	0.537													28	110					0	0	0	0	T	51890330	C	T	51890330	2	4	195	1	0	0	0	0	0	0	0	1	12043	639	23	1		1	PKHD1	6	51890330	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	10137145	51890330	119224737	91	34494											
RAB23	51715	broad.mit.edu	37	chr6	57061369	57061369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttcaaaagattccctatCtgtggtagagaacacgagca	13	10	9	9	1	2	2	1	0	1	2	3	4	3	2	1	1	3	3	1	1	5	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:57061369C>T	ENST00000317483.3	-	4	896	c.277G>A	c.(277-279)Gat>Aat	p.D93N	RAB23_ENST00000468148.1_Missense_Mutation_p.D93N	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	93					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATTCCCTATCTGTGGTAGAG	0.383													6	65					0	0	0	0	T	57061369	C	T	57061369	3	4	195	1	0	0	0	0	1	0	0	0	12992	913	32	2	452	2	RAB23	6	57061369	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	5171039	57061369	114053698	92	34495											
CD109	135228	broad.mit.edu	37	chr6	74516607	74516607	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgtttccttgaagccgatCcttacatagatattgatcag	11	14	8	8	1	1	3	1	2	0	1	3	5	3	3	3	0	2	1	3	0	4	6			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:74516607C>G	ENST00000437994.2	+	25	3432	c.3001C>G	c.(3001-3003)Cct>Gct	p.P1001A	CD109_ENST00000422508.2_Missense_Mutation_p.P924A|CD109_ENST00000287097.5_Missense_Mutation_p.P1001A	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1001						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAAGCCGATCCTTACATAGA	0.343													4	30					0	0	0	0	G	74516607	C	G	74516607	3	3	195	1	0	0	0	0	1	0	0	0	2992	855	30	2	3099	2	CD109	6	74516607	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	17455238	74516607	96598460	93	34496											
ZNF292	23036	broad.mit.edu	37	chr6	87969609	87969609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agattaggaggcataaaaaaGaaaaggaggagaaaaaacga	24	3	12	2	1	0	3	0	0	0	3	0	7	0	5	0	4	1	1	0	4	9	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:87969609G>C	ENST00000369577.3	+	8	6305	c.6262G>C	c.(6262-6264)Gaa>Caa	p.E2088Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.E2083Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2088					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCATAAAAAAGAAAAGGAGGA	0.388													7	45					0	0	0	0	C	87969609	G	C	87969609	3	2	195	1	0	0	0	0	1	0	0	0	17921	943	33	2	6292	2	ZNF292	6	87969609	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	13453002	87969609	83145458	94	34497											
CNR1	1268	broad.mit.edu	37	chr6	88853849	88853849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcaggcagagcatactgCagaatgcaaacaccgtctta	14	7	9	11	1	2	2	1	0	1	2	2	2	2	2	1	1	6	5	1	1	4	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:88853849C>A	ENST00000537554.1	-	2	4707	c.1145G>T	c.(1144-1146)tGc>tTc	p.C382F	CNR1_ENST00000549716.1_Missense_Mutation_p.C321F|CNR1_ENST00000468898.1_Missense_Mutation_p.C349F|CNR1_ENST00000428600.2_Missense_Mutation_p.C382F|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549890.1_Missense_Mutation_p.C382F|CNR1_ENST00000535130.1_Missense_Mutation_p.C382F|CNR1_ENST00000369501.2_Missense_Mutation_p.C382F|CNR1_ENST00000369499.2_Missense_Mutation_p.C382F	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	382					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GAGCATACTGCAGAATGCAAA	0.507													18	49					3.51602e-12	3.80902e-12	1	0	A	88853849	C	A	88853849	3	1	195	1	0	0	0	0	1	0	0	0	3661	710	25	4	277	4	CNR1	6	88853849	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	884240	88853849	82261218	95	34498											
PREP	5550	broad.mit.edu	37	chr6	105824004	105824004	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctgtgtagcacttacctcgGagtgccactgtgccatcgtc	6	12	10	13	2	1	0	0	0	1	0	4	1	1	1	3	1	4	2	3	1	2	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:105824004G>C	ENST00000369110.3	-	4	573	c.381C>G	c.(379-381)ctC>ctG	p.L127L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	127					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ACTTACCTCGGAGTGCCACTG	0.522													17	38					0	0	0	0	C	105824004	G	C	105824004	2	2	195	1	0	0	0	0	0	0	0	1	12554	1161	41	2		2	PREP	6	105824004	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	16970155	105824004	65291063	96	34499											
REV3L	5980	broad.mit.edu	37	chr6	111697577	111697577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaatatcttcttcataatCaaaaatactactttcacagg	15	14	4	8	0	5	0	3	0	2	0	5	1	5	1	0	2	2	0	0	2	7	7			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:111697577C>T	ENST00000435970.1	-	15	2563	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N	REV3L_ENST00000368802.3_Missense_Mutation_p.D661N|REV3L_ENST00000368805.1_Missense_Mutation_p.D661N|REV3L_ENST00000358835.3_Missense_Mutation_p.D661N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	661					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTTCATAATCAAAAATACTA	0.323								DNA polymerases (catalytic subunits)					15	38					0	0	0	0	T	111697577	C	T	111697577	3	4	195	1	0	0	0	0	1	0	0	0	13322	826	29	2	7491	2	REV3L	6	111697577	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	5873573	111697577	59417490	97	34500											
FYN	2534	broad.mit.edu	37	chr6	112035585	112035585	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatttttctcctttgtgAaaactcaggtcatcttctgt	9	18	6	8	0	5	2	2	2	3	0	6	2	5	2	1	1	1	0	1	1	3	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:112035585A>T	ENST00000354650.3	-	5	915	c.309T>A	c.(307-309)ttT>ttA	p.F103L	FYN_ENST00000229470.5_Intron|FYN_ENST00000368682.3_Missense_Mutation_p.F103L|FYN_ENST00000538466.1_Missense_Mutation_p.F103L|FYN_ENST00000368678.4_Missense_Mutation_p.F103L|FYN_ENST00000356013.2_Missense_Mutation_p.F103L|FYN_ENST00000368667.2_Missense_Mutation_p.F103L|FYN_ENST00000229471.4_Missense_Mutation_p.F103L	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	103	SH3.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CTCCTTTGTGAAAACTCAGGT	0.428													5	58					0	0	0	0	T	112035585	A	T	112035585	3	4	195	1	0	0	0	0	1	0	0	0	6174	243	9	5	1504	5	FYN	6	112035585	Missense_Mutation	SNP	A	TCGA-CR-7368-01A-11D-2129-08	338008	112035585	59079482	98	34501											
HS3ST5	222537	broad.mit.edu	37	chr6	114378934	114378934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgacaatgatcaacaacttGatggatgagttcattttgta	13	14	8	6	0	2	4	2	4	0	0	2	5	2	5	0	1	2	2	0	1	4	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:114378934G>A	ENST00000312719.5	-	5	1716	c.528C>T	c.(526-528)atC>atT	p.I176I	RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.I176I|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	176					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCAACAACTTGATGGATGAGT	0.403													43	247					0	0	0	0	A	114378934	G	A	114378934	2	1	195	1	0	0	0	0	0	0	0	1	7418	1280	45	2		2	HS3ST5	6	114378934	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	2343349	114378934	56736133	99	34502											
SYNE1	23345	broad.mit.edu	37	chr6	152770688	152770688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaacggcacgtttaacctCtccgtggttggcagtatcga	8	12	10	11	4	2	0	1	0	1	0	4	1	2	0	2	3	2	5	2	3	3	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:152770688C>G	ENST00000367255.5	-	28	4085	c.3484G>C	c.(3484-3486)Gag>Cag	p.E1162Q	SYNE1_ENST00000413186.2_Missense_Mutation_p.E1162Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1162Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1162Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1152Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1228Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1169Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1169Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1162					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGTTTAACCTCTCCGTGGTTG	0.403										HNSCC(10;0.0054)			25	46					0	0	0	0	G	152770688	C	G	152770688	3	3	195	1	0	0	0	0	1	0	0	0	15536	922	32	2	23458	2	SYNE1	6	152770688	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	38391754	152770688	18344379	100	34503											
ABCB5	340273	broad.mit.edu	37	chr7	20689665	20689665	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctgaaaggtctgaatctCagaattaagtctggagagac	14	11	10	6	0	4	4	1	2	4	2	5	6	4	5	0	2	0	0	0	2	4	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:20689665C>G	ENST00000404938.2	+	12	1879	c.1227C>G	c.(1225-1227)ctC>ctG	p.L409L	ABCB5_ENST00000406935.1_5'UTR|ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000477094.1_3'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	593	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GTCTGAATCTCAGAATTAAGT	0.413													4	17					0	0	0	0	G	20689665	C	G	20689665	2	3	195	1	0	0	0	0	0	0	0	1	44	813	29	2		2	ABCB5	7	20689665	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08		20689665	138448998	101	34504											
DMTF1	9988	broad.mit.edu	37	chr7	86817567	86817567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagataatacagccatctCttctagccccatggcagcat	12	9	8	12	0	2	1	0	0	2	1	3	2	2	2	3	2	4	2	3	2	4	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:86817567C>T	ENST00000414194.2	+	13	2355	c.563C>T	c.(562-564)tCt>tTt	p.S188F	DMTF1_ENST00000394703.5_Missense_Mutation_p.S454F|DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000432937.2_Missense_Mutation_p.S366F|DMTF1_ENST00000331242.7_Missense_Mutation_p.S454F			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	454	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACAGCCATCTCTTCTAGCCCC	0.423													56	114					0	0	0	0	T	86817567	C	T	86817567	3	4	195	1	0	0	0	0	1	0	0	0	4629	913	32	2	1403	2	DMTF1	7	86817567	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	66127902	86817567	72321096	102	34505											
RUNDC3B	154661	broad.mit.edu	37	chr7	87339931	87339931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatggaaaaacatttatctGaatacatctctacagctctg	14	13	5	9	0	4	1	1	1	3	0	5	2	4	2	0	1	4	1	0	1	6	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:87339931G>C	ENST00000338056.3	+	5	880	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E140Q|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E140Q|ABCB1_ENST00000265724.3_Intron	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	157	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ACATTTATCTGAATACATCTC	0.303													14	29					0	0	0	0	C	87339931	G	C	87339931	3	2	195	1	0	0	0	0	1	0	0	0	13830	1291	45	2	487	2	RUNDC3B	7	87339931	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	522364	87339931	71798732	103	34506											
COL1A2	1278	broad.mit.edu	37	chr7	94043559	94043559	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcccctcaggtcccgCtggtgaagttggcaaaccag	7	7	13	14	1	1	1	1	1	0	0	2	1	2	1	5	4	1	3	5	4	2	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:94043559C>A	ENST00000297268.6	+	29	2162	c.1691C>A	c.(1690-1692)gCt>gAt	p.A564D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	564			A -> T (in dbSNP:rs41317153).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCAGGTCCCGCTGGTGAAGTT	0.433										HNSCC(75;0.22)			7	33					3.09899e-07	3.28263e-07	1	0	A	94043559	C	A	94043559	3	1	195	1	0	0	0	0	1	0	0	0	3708	797	28	4	1805	4	COL1A2	7	94043559	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	6703628	94043559	65095104	104	34507											
NPTX2	4885	broad.mit.edu	37	chr7	98256519	98256519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgacggcaagtggcacCacatctgtgtcacctggacg	9	8	12	12	2	3	1	2	1	1	0	3	2	3	2	2	3	0	2	2	3	1	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:98256519C>T	ENST00000265634.3	+	4	1096	c.931C>T	c.(931-933)Cac>Tac	p.H311Y		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	311	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CAAGTGGCACCACATCTGTGT	0.637													19	30					0	0	0	0	T	98256519	C	T	98256519	3	4	195	1	0	0	0	0	1	0	0	0	10674	594	21	4	945	4	NPTX2	7	98256519	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	4212960	98256519	60882144	105	34508											
SLC26A5	375611	broad.mit.edu	37	chr7	103017279	103017279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatcctgctaagtatacatAtataccgacgtctccatatt	12	13	5	11	2	1	0	0	0	1	0	3	1	2	0	3	0	3	3	3	0	7	8			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:103017279A>G	ENST00000306312.3	-	19	2278	c.2017T>C	c.(2017-2019)Tat>Cat	p.Y673H	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.Y641H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.Y675H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.Y673H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.Y641H|SLC26A5_ENST00000354356.4_Missense_Mutation_p.Y106H|SLC26A5_ENST00000393723.1_Missense_Mutation_p.Y643H|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.Y636H	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	673	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AAGTATACATATATACCGACG	0.313													14	58					0	0	0	0	G	103017279	A	G	103017279	3	3	195	1	0	0	0	0	1	0	0	0	14608	449	16	5	266	5	SLC26A5	7	103017279	Missense_Mutation	SNP	A	TCGA-CR-7368-01A-11D-2129-08	4760760	103017279	56121384	106	34509											
RINT1	60561	broad.mit.edu	37	chr7	105190824	105190834	+	Frame_Shift_Del	DEL	TGAAAGGGAGC	TGAAAGGGAGC	-																															gtggatgaagtactcttgttTgaaagggagctacacagtgt																										TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:105190824_105190834delTGAAAGGGAGC	ENST00000257700.2	+	9	1455_1465	c.1224_1234delTGAAAGGGAGC	c.(1222-1236)tttafs	p.FEREL408fs		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	408	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	p.R410M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TACTCTTGTTTGAAAGGGAGCTACACAGTGT	0.417													8	183	---	---	---	---					-	105190834	TGAAAGGGAGC	-	105190824	7	5	195	1	0	1	0	1	0	0	0	0	13461	1809	63	0	1258	0	RINT1	7	105190824	Frame_Shift_Del	DEL	TGAAAGGGAGC	TCGA-CR-7368-01A-11D-2129-08	2173545	105190824	53947839	107	34510											
CTTNBP2	83992	broad.mit.edu	37	chr7	117431659	117431659	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcgtgctacaccatgagTctttaaactggtccgaccaa	12	10	7	12	2	1	1	0	1	1	0	3	2	2	1	3	1	4	1	3	1	5	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:117431659T>A	ENST00000160373.3	-	4	1682	c.1591A>T	c.(1591-1593)Act>Tct	p.T531S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	531	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACACCATGAGTCTTTAAACTG	0.547													42	79					0	0	0	0	A	117431659	T	A	117431659	3	1	195	1	0	0	0	0	1	0	0	0	4077	1667	58	5	3480	5	CTTNBP2	7	117431659	Missense_Mutation	SNP	T	TCGA-CR-7368-01A-11D-2129-08	12240835	117431659	41707004	108	34511											
RBM28	55131	broad.mit.edu	37	chr7	127964661	127964661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagtcggcttcttcacCttcgtcgtctgaagctttgc	4	14	10	13	3	3	1	1	1	2	0	6	1	3	1	2	1	3	2	2	1	1	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:127964661C>G	ENST00000223073.1	-	12	1404	c.1290G>C	c.(1288-1290)aaG>aaC	p.K430N	RBM28_ENST00000415472.2_Missense_Mutation_p.K289N	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	430					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GCTTCTTCACCTTCGTCGTCT	0.557													26	207					0	0	0	0	G	127964661	C	G	127964661	3	3	195	1	0	0	0	0	1	0	0	0	13210	680	24	4	1021	4	RBM28	7	127964661	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	10533002	127964661	31174002	109	34512											
AHCYL2	23382	broad.mit.edu	37	chr7	129028933	129028933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagctctgatgatgagacatCgcccagggacaagcagcaaa	14	6	11	10	1	1	3	0	3	1	1	2	5	1	4	1	1	3	3	1	1	3	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:129028933C>T	ENST00000325006.3	+	3	566	c.512C>T	c.(511-513)tCg>tTg	p.S171L	AHCYL2_ENST00000446212.1_Missense_Mutation_p.S69L|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S90L|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S68L|AHCYL2_ENST00000472554.1_3'UTR|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S68L|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S170L	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	171					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GATGAGACATCGCCCAGGGAC	0.398													19	49					0	0	0	0	T	129028933	C	T	129028933	3	4	195	1	0	0	0	0	1	0	0	0	411	893	31	1	644	1	AHCYL2	7	129028933	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	1064272	129028933	30109730	110	34513											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138774437	138774437	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctttgttcagtccagagAgttcgtgatttttcaggact	7	16	9	9	1	3	2	2	1	1	1	5	4	4	3	2	1	0	2	2	1	0	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:138774437A>T	ENST00000242351.5	-	2	693	c.377T>A	c.(376-378)cTc>cAc	p.L126H	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L126H|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.L126H	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	126					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAGTCCAGAGAGTTCGTGATT	0.408													26	11					0	0	0	0	T	138774437	A	T	138774437	3	4	195	1	0	0	0	0	1	0	0	0	17670	304	11	5	2383	5	ZC3HAV1	7	138774437	Missense_Mutation	SNP	A	TCGA-CR-7368-01A-11D-2129-08	9745504	138774437	20364226	111	34514											
MTMR9	66036	broad.mit.edu	37	chr8	11172549	11172549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accattcgtggttttgaggcCctgattgaaagagagtggct	9	12	13	7	1	0	4	0	3	0	1	1	5	0	4	2	3	0	2	2	3	1	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:11172549C>T	ENST00000221086.3	+	7	1562	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	MTMR9_ENST00000526292.1_Silent_p.A278A	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	363	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		GTTTTGAGGCCCTGATTGAAA	0.483													48	114					0	0	0	0	T	11172549	C	T	11172549	2	4	195	1	0	0	0	0	0	0	0	1	10020	610	22	4		4	MTMR9	8	11172549	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08		11172549	135191473	112	34515											
BIN3	55909	broad.mit.edu	37	chr8	22487967	22487967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtcaccttttcctgattGaaggcatccatccgcttcat	8	14	6	13	1	2	2	2	2	0	0	5	2	5	2	4	1	0	2	4	1	2	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:22487967G>T	ENST00000276416.6	-	5	353	c.285C>A	c.(283-285)ttC>ttA	p.F95L	BIN3_ENST00000519513.1_Missense_Mutation_p.F41L|BIN3_ENST00000520292.1_Missense_Mutation_p.F95L|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Missense_Mutation_p.F47L	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	95	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TTTCCTGATTGAAGGCATCCA	0.592													36	186					3.61848e-18	3.96508e-18	1	0	T	22487967	G	T	22487967	3	4	195	1	0	0	0	0	1	0	0	0	1439	1281	45	2	496	2	BIN3	8	22487967	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	11315418	22487967	123876055	113	34516											
NEFM	4741	broad.mit.edu	37	chr8	24771655	24771655	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgctttgccggctacataGagaaggtgcactacctggag	10	8	12	11	2	0	1	0	0	0	1	0	3	0	2	3	3	4	3	3	3	4	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:24771655G>C	ENST00000221166.5	+	1	1131	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.E117Q|NEFM_ENST00000437366.2_Missense_Mutation_p.E117Q|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	117	Coil 1A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGGCTACATAGAGAAGGTGCA	0.647													3	13					0	0	0	0	C	24771655	G	C	24771655	3	2	195	1	0	0	0	0	1	0	0	0	10386	943	33	2	351	2	NEFM	8	24771655	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	2283688	24771655	121592367	114	34517											
DCTN6	10671	broad.mit.edu	37	chr8	30038087	30038087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacatttgaagtcatccctGagaatacggtgatctatggt	12	13	9	7	1	2	3	1	3	1	1	3	4	3	3	1	2	2	0	1	2	5	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:30038087G>C	ENST00000221114.3	+	6	502	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	DCTN6_ENST00000520829.1_Missense_Mutation_p.E139Q|RP11-51J9.4_ENST00000523733.1_RNA	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	139						centrosome	transferase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		AGTCATCCCTGAGAATACGGT	0.438													10	43					0	0	0	0	C	30038087	G	C	30038087	3	2	195	1	0	0	0	0	1	0	0	0	4343	1291	45	2	437	2	DCTN6	8	30038087	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	5266432	30038087	116325935	115	34518											
RBPMS	11030	broad.mit.edu	37	chr8	30402106	30402106	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tagcgcctgctctacctcctCctgctttcacctatcccgct	4	13	5	19	2	2	0	1	0	1	0	5	0	5	0	6	0	4	3	6	0	3	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:30402106C>G	ENST00000320203.4	+	6	1075	c.493C>G	c.(493-495)Cct>Gct	p.P165A	RBPMS_ENST00000519647.1_Missense_Mutation_p.P61A|RBPMS_ENST00000517860.1_Missense_Mutation_p.P165A|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000339877.4_Missense_Mutation_p.P165A|RBPMS_ENST00000397323.4_Missense_Mutation_p.P165A|RBPMS_ENST00000520191.1_Missense_Mutation_p.P61A|RBPMS_ENST00000287771.5_Missense_Mutation_p.P165A|RBPMS_ENST00000520161.1_Missense_Mutation_p.P61A	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	165					positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TCTACCTCCTCCTGCTTTCAC	0.562													8	159					0	0	0	0	G	30402106	C	G	30402106	3	3	195	1	0	0	0	0	1	0	0	0	13245	855	30	2	515	2	RBPMS	8	30402106	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	364019	30402106	115961916	116	34519											
PURG	29942	broad.mit.edu	37	chr8	30889927	30889927	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcccaggtgggcatagtgCtcgatgaagtcccctagaca	10	7	13	11	1	0	2	0	1	0	1	2	3	1	2	3	3	1	2	3	3	3	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:30889927C>T	ENST00000475541.1	-	1	1304	c.372G>A	c.(370-372)gaG>gaA	p.E124E	PURG_ENST00000339382.2_Silent_p.E124E	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	124						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GGGCATAGTGCTCGATGAAGT	0.597													15	92					0	0	0	0	T	30889927	C	T	30889927	2	4	195	1	0	0	0	0	0	0	0	1	12911	796	28	4		4	PURG	8	30889927	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	487821	30889927	115474095	117	34520											
RB1CC1	9821	broad.mit.edu	37	chr8	53569790	53569790	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcattttttaaagacagtaGttctttttgatgtttttctt	8	24	5	4	0	3	2	1	1	2	1	3	2	3	2	0	0	0	3	0	0	3	11			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:53569790G>C	ENST00000025008.5	-	15	3122	c.2599C>G	c.(2599-2601)Cta>Gta	p.L867V	RB1CC1_ENST00000435644.2_Missense_Mutation_p.L867V|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L867V	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	867					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAAGACAGTAGTTCTTTTTGA	0.264													7	33					0	0	0	0	C	53569790	G	C	53569790	3	2	195	1	0	0	0	0	1	0	0	0	13181	1020	36	4	2225	4	RB1CC1	8	53569790	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	22679863	53569790	92794232	118	34521											
MOS	4342	broad.mit.edu	37	chr8	57025630	57025630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccggggagcgagtcctcGaagacggcagcggagaggga	9	3	19	10	5	0	2	0	0	0	2	2	7	1	4	2	5	3	1	2	5	1	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:57025630G>A	ENST00000311923.1	-	1	911	c.912C>T	c.(910-912)ttC>ttT	p.F304F		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	304	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCGAGTCCTCGAAGACGGCAG	0.682													6	29					0	0	0	0	A	57025630	G	A	57025630	2	1	195	1	0	0	0	0	0	0	0	1	9782	1049	37	1		1	MOS	8	57025630	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	3455840	57025630	89338392	119	34522											
CSPP1	79848	broad.mit.edu	37	chr8	68028195	68028195	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccaagacactttgaagAgatgataccacctgaaagac	16	6	9	10	0	0	6	0	3	0	3	0	7	0	6	3	1	1	1	3	1	4	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:68028195A>G	ENST00000262210.5	+	11	1350	c.1319A>G	c.(1318-1320)gAg>gGg	p.E440G	CSPP1_ENST00000412460.1_Missense_Mutation_p.E146G	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	475						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CACTTTGAAGAGATGATACCA	0.408													37	81					0	0	0	0	G	68028195	A	G	68028195	3	3	195	1	0	0	0	0	1	0	0	0	3994	304	11	5	1474	5	CSPP1	8	68028195	Missense_Mutation	SNP	A	TCGA-CR-7368-01A-11D-2129-08	11002565	68028195	78335827	120	34523											
KIAA1429	25962	broad.mit.edu	37	chr8	95504890	95504890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaattttaccttgacgttaTaaaggtctcatgcttgtgct	10	17	7	7	1	1	1	1	1	1	0	2	1	1	1	1	1	3	3	1	1	6	7			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:95504890T>C	ENST00000297591.5	-	21	4873	c.4798A>G	c.(4798-4800)Ata>Gta	p.I1600V	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1600					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTGACGTTATAAAGGTCTCA	0.383													10	74					0	0	0	0	C	95504890	T	C	95504890	3	2	195	1	0	0	0	0	1	0	0	0	8282	1406	49	5	656	5	KIAA1429	8	95504890	Missense_Mutation	SNP	T	TCGA-CR-7368-01A-11D-2129-08	27476695	95504890	50859132	121	34524											
IFNA8	3445	broad.mit.edu	37	chr9	21409512	21409512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaattctacatcgaacttGaccagcagctgaatgacctg	13	10	8	10	1	1	4	0	4	1	0	2	5	1	4	2	0	4	2	2	0	4	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:21409512G>C	ENST00000380205.1	+	1	367	c.337G>C	c.(337-339)Gac>Cac	p.D113H		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	113					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.D113H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CATCGAACTTGACCAGCAGCT	0.502													26	45					0	0	0	0	C	21409512	G	C	21409512	3	2	195	1	0	0	0	0	1	0	0	0	7596	1290	45	2	339	2	IFNA8	9	21409512	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08		21409512	119803919	122	34525											
RGP1	9827	broad.mit.edu	37	chr9	35751957	35751957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctcttgctcccagttttCagtcagcttacagaccgagg	7	13	9	12	1	3	1	2	0	1	1	5	2	4	1	2	1	3	3	2	1	1	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:35751957C>T	ENST00000378078.4	+	8	908	c.767C>T	c.(766-768)tCa>tTa	p.S256L	RGP1_ENST00000456972.2_Missense_Mutation_p.S296L	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	256										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCCAGTTTTCAGTCAGCTTA	0.577													5	24					0	0	0	0	T	35751957	C	T	35751957	3	4	195	1	0	0	0	0	1	0	0	0	13366	838	29	2	921	2	RGP1	9	35751957	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	14342445	35751957	105461474	123	34526											
CBWD6	644019	broad.mit.edu	37	chr9	69238279	69238279	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttctgggaccaagtctgTtttattaatgagaatgatat	11	17	8	5	0	3	2	0	2	3	1	3	4	3	3	1	1	0	1	1	1	5	6			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:69238279T>C	ENST00000377457.5	-	8	718	c.613A>G	c.(613-615)Aca>Gca	p.T205A	CBWD6_ENST00000382399.4_Missense_Mutation_p.T185A|CBWD6_ENST00000377449.1_Missense_Mutation_p.T169A	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	205							ATP binding			lung(4)	4						ACCAAGTCTGTTTTATTAATG	0.313													35	110					0	0	0	0	C	69238279	T	C	69238279	3	2	195	1	0	0	0	0	1	0	0	0	2741	1725	60	5	606	5	CBWD6	9	69238279	Missense_Mutation	SNP	T	TCGA-CR-7368-01A-11D-2129-08	33486322	69238279	71975152	124	34527											
PIP5K1B	8395	broad.mit.edu	37	chr9	71606110	71606110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaggggaccatctacttGaccgctgagcccaacactct	11	7	10	13	1	2	3	0	2	2	1	2	5	2	4	3	2	3	1	3	2	3	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:71606110G>A	ENST00000265382.3	+	15	1862	c.1557G>A	c.(1555-1557)ttG>ttA	p.519_519insL	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	0						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CCATCTACTTGACCGCTGAGC	0.448													9	95					0	0	0	0	A	71606110	G	A	71606110	3	1	195	1	0	0	0	0	1	0	0	0	12012	1281	45	2	1603	2	PIP5K1B	9	71606110	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	2367831	71606110	69607321	125	34528											
FAM120A	23196	broad.mit.edu	37	chr9	96291798	96291798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtcgcacctgaggtgctgaGagtggccgagcacaggcaca	9	5	15	12	3	0	2	0	2	0	1	1	4	0	2	2	3	2	4	2	3	0	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:96291798G>C	ENST00000277165.6	+	9	1864	c.1670G>C	c.(1669-1671)aGa>aCa	p.R557T	FAM120A_ENST00000333936.5_Missense_Mutation_p.R585T|FAM120A_ENST00000375389.3_Missense_Mutation_p.R557T|FAM120A_ENST00000340893.4_Missense_Mutation_p.R557T|FAM120A_ENST00000475933.1_3'UTR	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	557						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGGTGCTGAGAGTGGCCGAG	0.592													15	65					0	0	0	0	C	96291798	G	C	96291798	3	2	195	1	0	0	0	0	1	0	0	0	5456	942	33	2	1704	2	FAM120A	9	96291798	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	24685688	96291798	44921633	126	34529											
FAM120A	23196	broad.mit.edu	37	chr9	96320925	96320925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccttaccgtgccttcCgtgtggcggcagcatcggga	5	8	14	14	4	0	0	0	0	0	0	2	1	1	1	4	4	3	2	4	4	1	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:96320925C>T	ENST00000277165.6	+	15	2925	c.2731C>T	c.(2731-2733)Cgt>Tgt	p.R911C	FAM120A_ENST00000333936.5_Missense_Mutation_p.R939C|FAM120A_ENST00000340893.4_Intron	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	911	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCGTGCCTTCCGTGTGGCGGC	0.612													18	96					0	0	0	0	T	96320925	C	T	96320925	3	4	195	1	0	0	0	0	1	0	0	0	5456	652	23	1	2789	1	FAM120A	9	96320925	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	29127	96320925	44892506	127	34530											
RBM18	92400	broad.mit.edu	37	chr9	125004258	125004258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaggcgctgctggatactCtgcatcaggattttccgcca	9	10	10	12	2	2	0	1	0	1	0	3	2	3	2	2	3	4	3	2	3	2	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:125004258C>G	ENST00000417201.3	-	6	618	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	160							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						GCTGGATACTCTGCATCAGGA	0.408													13	78					0	0	0	0	G	125004258	C	G	125004258	3	3	195	1	0	0	0	0	1	0	0	0	13202	922	32	2	98	2	RBM18	9	125004258	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	28683333	125004258	16209173	128	34531											
COL5A1	1289	broad.mit.edu	37	chr9	137623932	137623932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccagattggaggacctcggGgcgagaaaggccaaaaggga	13	3	16	9	2	0	2	0	0	0	2	1	6	0	5	3	6	0	0	3	6	3	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:137623932G>T	ENST00000371817.3	+	9	1762	c.1348G>T	c.(1348-1350)Ggc>Tgc	p.G450C		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	450	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGACCTCGGGGCGAGAAAGG	0.527													67	56					7.07328e-35	7.87144e-35	1	0	T	137623932	G	T	137623932	3	4	195	1	0	0	0	0	1	0	0	0	3726	1232	43	4	1382	4	COL5A1	9	137623932	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	12619674	137623932	3589499	129	34532											
MAMDC4	158056	broad.mit.edu	37	chr9	139751179	139751179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaggtctcctgtaactttGagcgggacacatgcagctgg	9	9	13	10	1	1	2	0	1	1	1	2	3	1	3	1	3	4	3	1	3	1	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:139751179G>A	ENST00000445819.1	+	17	2025	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.E580K			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	659	MAM 4.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGTAACTTTGAGCGGGACAC	0.662													10	23					0	0	0	0	A	139751179	G	A	139751179	3	1	195	1	0	0	0	0	1	0	0	0	9273	1291	45	2	1796	2	MAMDC4	9	139751179	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	2127247	139751179	1462252	130	34533											
FBXO18	84893	broad.mit.edu	37	chr10	5956205	5956205	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaagatggaacctctcCaggtggtgaaaattatggcc	13	9	10	9	0	2	2	1	1	1	1	3	3	2	3	3	4	1	0	3	4	5	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:5956205C>T	ENST00000379999.5	+	9	1626	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Nonsense_Mutation_p.Q457*|FBXO18_ENST00000379994.1_Nonsense_Mutation_p.Q194*	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	457					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGAACCTCTCCAGGTGGTGAA	0.448													9	86					0	0	0	0	T	5956205	C	T	5956205	4	4	195	1	0	0	0	0	0	1	0	0	5776	595	21	4	1561	4	FBXO18	10	5956205	Nonsense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08		5956205	129578542	131	34534											
APBB1IP	54518	broad.mit.edu	37	chr10	26789781	26789781	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaagaccaagatttagAtgctctcatggcagatctgg	12	10	11	8	0	2	4	1	0	2	4	3	5	2	5	1	3	1	2	1	3	3	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:26789781A>G	ENST00000376236.4	+	5	649	c.194A>G	c.(193-195)gAt>gGt	p.D65G	APBB1IP_ENST00000356785.4_Missense_Mutation_p.D65G	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	65					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CAAGATTTAGATGCTCTCATG	0.403													14	51					0	0	0	0	G	26789781	A	G	26789781	3	3	195	1	0	0	0	0	1	0	0	0	761	333	12	5	204	5	APBB1IP	10	26789781	Missense_Mutation	SNP	A	TCGA-CR-7368-01A-11D-2129-08	20833576	26789781	108744966	132	34535											
MASTL	84930	broad.mit.edu	37	chr10	27459563	27459563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttctatgttctgatgatGatagagcttctaaaaatatt	12	18	7	4	0	3	4	0	3	3	1	3	4	3	4	0	0	1	3	0	0	6	9			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:27459563G>A	ENST00000375946.4	+	8	2278	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	MASTL_ENST00000375940.4_Missense_Mutation_p.D559N|MASTL_ENST00000342386.6_Missense_Mutation_p.D559N|MASTL_ENST00000477034.1_3'UTR	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	559	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCTGATGATGATAGAGCTTC	0.333													14	51					0	0	0	0	A	27459563	G	A	27459563	3	1	195	1	0	0	0	0	1	0	0	0	9397	1290	45	2	1705	2	MASTL	10	27459563	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	669782	27459563	108075184	133	34536											
ITGB1	3688	broad.mit.edu	37	chr10	33197461	33197462	+	Splice_Site	DEL	CT	CT	-																															atgtctggaccagtgggacaCtctggaaaataagaaggtaa																										TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:33197461_33197462delCT	ENST00000396033.2	-	15	2300_2301	c.2164_splice	c.e15-1	p.E722_splice	ITGB1_ENST00000423113.1_Splice_Site_p.E722_splice|ITGB1_ENST00000302278.3_Splice_Site_p.E722_splice|ITGB1_ENST00000374956.4_Splice_Site_p.E722_splice	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	722					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CAGTGGGACACTCTGGAAAATA	0.406													18	54	---	---	---	---					-	33197462	CT	-	33197461	8	5	195	1	0	1	0	1	0	0	1	0	7943	579	20	0	476	0	ITGB1	10	33197461	Splice_Site	DEL	CT	TCGA-CR-7368-01A-11D-2129-08	5737898	33197461	102337286	134	34537											
ANK3	288	broad.mit.edu	37	chr10	62029966	62029966	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgattttcctgggctgccaTatacaatggcgtgaaaccat	10	12	10	9	1	0	2	0	2	0	0	1	2	1	2	3	2	3	1	3	2	4	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:62029966T>C	ENST00000280772.1	-	5	627	c.436A>G	c.(436-438)Atg>Gtg	p.M146V	ANK3_ENST00000373827.2_Missense_Mutation_p.M140V|ANK3_ENST00000503366.1_Missense_Mutation_p.M129V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	146					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.M146V(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGGCTGCCATATACAATGGC	0.398													19	33					0	0	0	0	C	62029966	T	C	62029966	3	2	195	1	0	0	0	0	1	0	0	0	622	1406	49	5	13186	5	ANK3	10	62029966	Missense_Mutation	SNP	T	TCGA-CR-7368-01A-11D-2129-08	28832505	62029966	73504781	135	34538											
ARID5B	84159	broad.mit.edu	37	chr10	63816914	63816914	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagccttgaccaagccgaaGaataaccataactgtaaaaa	18	7	6	10	1	1	2	1	1	0	1	1	3	1	2	4	0	4	1	4	0	8	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:63816914G>C	ENST00000279873.7	+	6	1295	c.885G>C	c.(883-885)aaG>aaC	p.K295N	ARID5B_ENST00000309334.5_Missense_Mutation_p.K52N	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	295					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CCAAGCCGAAGAATAACCATA	0.458													18	22					0	0	0	0	C	63816914	G	C	63816914	3	2	195	1	0	0	0	0	1	0	0	0	924	933	33	2	907	2	ARID5B	10	63816914	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	1786948	63816914	71717833	136	34539											
HERC4	26091	broad.mit.edu	37	chr10	69699408	69699408	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatccagtaactgttgcatGcttctgcaaaataatatata	15	14	5	7	0	1	0	0	0	1	0	2	0	2	0	1	0	4	5	1	0	8	8			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:69699408G>A	ENST00000395198.3	-	22	2779	c.2532C>T	c.(2530-2532)agC>agT	p.S844S	HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Intron|HERC4_ENST00000373700.4_Silent_p.S836S|HERC4_ENST00000277817.6_Silent_p.S734S	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	844	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ACTGTTGCATGCTTCTGCAAA	0.284													10	34					0	0	0	0	A	69699408	G	A	69699408	2	1	195	1	0	0	0	0	0	0	0	1	7110	1310	46	4		4	HERC4	10	69699408	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	5882494	69699408	65835339	137	34540											
HKDC1	80201	broad.mit.edu	37	chr10	71000451	71000451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggtcaatgacaccgtggGgaccatgatgacctgtgcct	8	9	12	12	1	1	3	1	3	0	0	1	4	1	4	5	3	1	0	5	3	1	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:71000451G>A	ENST00000354624.5	+	6	768	c.635G>A	c.(634-636)gGg>gAg	p.G212E	HKDC1_ENST00000395086.2_Missense_Mutation_p.G212E	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	212					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GACACCGTGGGGACCATGATG	0.562													29	41					0	0	0	0	A	71000451	G	A	71000451	3	1	195	1	0	0	0	0	1	0	0	0	7243	1232	43	4	657	4	HKDC1	10	71000451	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	1301043	71000451	64534296	138	34541											
IFIT1B	439996	broad.mit.edu	37	chr10	91143656	91143656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaatttaacacagcatcaGggaggaataaggcattttct	16	11	8	6	0	2	0	1	0	1	0	2	2	2	2	0	3	2	2	0	3	5	6			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:91143656G>A	ENST00000371809.3	+	2	666	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	196							binding			endometrium(2)|large_intestine(3)|lung(8)	13						CACAGCATCAGGGAGGAATAA	0.453													43	211					0	0	0	0	A	91143656	G	A	91143656	3	1	195	1	0	0	0	0	1	0	0	0	7575	1000	35	4	592	4	IFIT1B	10	91143656	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	20143205	91143656	44391091	139	34542											
SMC3	9126	broad.mit.edu	37	chr10	112356208	112356208	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggggttattatgacacaagGaagtctcgacttgaattgca	12	11	12	6	1	1	2	0	2	1	0	2	4	1	3	0	3	1	2	0	3	5	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:112356208G>A	ENST00000361804.4	+	19	2142	c.2016G>A	c.(2014-2016)agG>agA	p.R672R		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	672					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATGACACAAGGAAGTCTCGAC	0.373													28	53					0	0	0	0	A	112356208	G	A	112356208	2	1	195	1	0	0	0	0	0	0	0	1	14872	1165	41	2		2	SMC3	10	112356208	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	21212552	112356208	23178539	140	34543											
EBF3	253738	broad.mit.edu	37	chr10	131641455	131641455	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaggtccgccgcccgcttCagtaacacctcctaaaggaa	11	6	8	16	3	1	0	1	0	0	0	3	1	3	1	6	2	1	2	6	2	4	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:131641455C>T	ENST00000368648.3	-	12	1185	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L	EBF3_ENST00000355311.5_Silent_p.L380L	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	380					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCGCCCGCTTCAGTAACACCT	0.602													4	10					0	0	0	0	T	131641455	C	T	131641455	2	4	195	1	0	0	0	0	0	0	0	1	4918	813	29	2		2	EBF3	10	131641455	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	19285247	131641455	3893292	141	34544											
ECHS1	1892	broad.mit.edu	37	chr10	135176399	135176399	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttgaagttggcctttctCttttccacaaacgcggtcat	7	16	7	11	2	3	1	1	1	2	0	5	1	4	1	2	2	1	1	2	2	2	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:135176399C>G	ENST00000368547.3	-	8	1201	c.846G>C	c.(844-846)aaG>aaC	p.K282N		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	282					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		TGGCCTTTCTCTTTTCCACAA	0.517													4	75					0	0	0	0	G	135176399	C	G	135176399	3	3	195	1	0	0	0	0	1	0	0	0	4932	912	32	2	30	2	ECHS1	10	135176399	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	3534944	135176399	358348	142	34545											
TEAD1	7003	broad.mit.edu	37	chr11	12785959	12785959	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaggaggaaaatcatcttAtcagacgaaggcaaaatgta	17	7	12	5	1	3	1	2	0	1	1	3	5	3	4	0	4	0	2	0	4	7	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:12785959A>T	ENST00000361905.4	+	3	800	c.135A>T	c.(133-135)ttA>ttT	p.L45F	TEAD1_ENST00000527636.1_Missense_Mutation_p.L60F|TEAD1_ENST00000334310.6_Missense_Mutation_p.L45F|TEAD1_ENST00000527575.1_Missense_Mutation_p.L60F|TEAD1_ENST00000361985.2_Missense_Mutation_p.L60F	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	60					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AAATCATCTTATCAGACGAAG	0.488													23	42					0	0	0	0	T	12785959	A	T	12785959	3	4	195	1	0	0	0	0	1	0	0	0	15832	446	16	5	182	5	TEAD1	11	12785959	Missense_Mutation	SNP	A	TCGA-CR-7368-01A-11D-2129-08		12785959	122220557	143	34546											
CYP2R1	120227	broad.mit.edu	37	chr11	14907463	14907463	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagatctaaactgaagaTctttgagaagagaagaaaaa	20	8	8	5	0	2	6	0	2	2	5	3	8	3	6	1	0	1	0	1	0	8	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:14907463T>A	ENST00000334636.5	-	2	272	c.225_splice	c.e2-1	p.I76_splice	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	76					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	AAACTGAAGATCTTTGAGAAG	0.373													14	33					0	0	0	0	A	14907463	T	A	14907463	5	1	195	1	0	0	0	0	0	0	1	0	4205	1449	50	5	1295	5	CYP2R1	11	14907463	Splice_Site	SNP	T	TCGA-CR-7368-01A-11D-2129-08	2121504	14907463	120099053	144	34547											
ANO5	203859	broad.mit.edu	37	chr11	22248857	22248857	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttaatgcaggactcggaaGatggaagaacttattttgtc	12	14	10	5	1	0	2	0	0	0	2	2	5	0	5	0	3	2	1	0	3	5	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:22248857G>C	ENST00000324559.8	+	7	690	c.373G>C	c.(373-375)Gat>Cat	p.D125H		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	125						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACTCGGAAGATGGAAGAAC	0.348													38	97					0	0	0	0	C	22248857	G	C	22248857	3	2	195	1	0	0	0	0	1	0	0	0	699	942	33	2	399	2	ANO5	11	22248857	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	7341394	22248857	112757659	145	34548											
OR4B1	119765	broad.mit.edu	37	chr11	48238839	48238839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccataattcagattctcGttatcatccaattgcccttc	10	15	3	13	1	3	1	2	0	1	1	7	1	5	1	3	0	1	1	3	0	3	6			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:48238839G>A	ENST00000309562.2	+	1	496	c.478G>A	c.(478-480)Gtt>Att	p.V160I		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCAGATTCTCGTTATCATCCA	0.468													38	77					0	0	0	0	A	48238839	G	A	48238839	3	1	195	1	0	0	0	0	1	0	0	0	11115	1145	40	1	480	1	OR4B1	11	48238839	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	25989982	48238839	86767677	146	34549											
OR10AG1	282770	broad.mit.edu	37	chr11	55735780	55735780	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaagggaaaaattgctaaGaaaaaaatacatgggagtct	21	7	9	4	0	1	1	0	0	1	1	1	3	1	3	0	2	2	1	0	2	9	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:55735780G>C	ENST00000312345.2	-	1	210	c.160C>G	c.(160-162)Ctt>Gtt	p.L54V		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAATTGCTAAGAAAAAAATAC	0.328													15	81					0	0	0	0	C	55735780	G	C	55735780	3	2	195	1	0	0	0	0	1	0	0	0	10968	942	33	2	748	2	OR10AG1	11	55735780	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	7496941	55735780	79270736	147	34550											
INTS5	80789	broad.mit.edu	37	chr11	62416825	62416825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccttaaggccacaggagaGaacccgggaaatgatggtgc	12	6	14	9	1	0	2	0	1	0	1	1	5	1	4	3	4	2	0	3	4	3	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:62416825G>A	ENST00000330574.2	-	2	779	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	243					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCACAGGAGAGAACCCGGGAA	0.542													21	50					0	0	0	0	A	62416825	G	A	62416825	3	1	195	1	0	0	0	0	1	0	0	0	7834	942	33	2	2336	2	INTS5	11	62416825	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	6681045	62416825	72589691	148	34551											
NPAS4	266743	broad.mit.edu	37	chr11	66191403	66191403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatgctgccctcattccctGaaaacattctttcccaggaa	10	11	5	15	0	2	1	1	1	1	0	4	2	4	2	4	1	3	1	4	1	3	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:66191403G>A	ENST00000311034.2	+	7	1218	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	348					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTCATTCCCTGAAAACATTCT	0.577													29	181					0	0	0	0	A	66191403	G	A	66191403	3	1	195	1	0	0	0	0	1	0	0	0	10635	1291	45	2	1068	2	NPAS4	11	66191403	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	3774578	66191403	68815113	149	34552											
ACER3	55331	broad.mit.edu	37	chr11	76709867	76709867	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatttatattgttacatggTaagtagtttggatcatctgc	10	18	8	5	0	2	0	1	0	1	0	2	1	2	1	0	2	2	4	0	2	6	9			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:76709867T>C	ENST00000532485.1	+	7	601		c.e7+2		ACER3_ENST00000526597.1_Splice_Site|ACER3_ENST00000544113.1_Splice_Site|ACER3_ENST00000533873.1_Splice_Site|ACER3_ENST00000538157.1_Splice_Site	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3						ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						TGTTACATGGTAAGTAGTTTG	0.318													7	29					0	0	0	0	C	76709867	T	C	76709867	5	2	195	1	0	0	0	0	0	0	1	0	140	1652	57	5	525	5	ACER3	11	76709867	Splice_Site	SNP	T	TCGA-CR-7368-01A-11D-2129-08	10518464	76709867	58296649	150	34553											
FAT3	120114	broad.mit.edu	37	chr11	92624013	92624013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctcacccattccccaacGaaacggatttggtgggcccg	8	8	9	16	3	1	0	1	0	0	0	3	2	3	1	5	3	2	0	5	3	2	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:92624013G>A	ENST00000298047.6	+	27	13521	c.13504G>A	c.(13504-13506)Gaa>Aaa	p.E4502K	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.E4470K|FAT3_ENST00000525166.1_Missense_Mutation_p.E4352K|FAT3_ENST00000533797.1_Missense_Mutation_p.E805K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4502	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCCCCAACGAAACGGATTT	0.592										TCGA Ovarian(4;0.039)			17	29					0	0	0	0	A	92624013	G	A	92624013	3	1	195	1	0	0	0	0	1	0	0	0	5736	1059	37	1	13506	1	FAT3	11	92624013	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	15914146	92624013	42382503	151	34554											
SLC35F2	54733	broad.mit.edu	37	chr11	107676147	107676147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaaaaactcctgtctgctCagcttcttcacgatgtattc	9	14	5	13	1	4	0	2	0	2	0	6	1	5	0	2	0	3	3	2	0	4	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:107676147C>T	ENST00000525071.1	-	8	1257	c.669G>A	c.(667-669)ctG>ctA	p.L223L	SLC35F2_ENST00000429869.1_Silent_p.L223L|SLC35F2_ENST00000525815.1_Silent_p.L223L|SLC35F2_ENST00000265836.7_Silent_p.L75L|SLC35F2_ENST00000375682.4_Silent_p.L176L			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	223					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CCTGTCTGCTCAGCTTCTTCA	0.408													5	46					0	0	0	0	T	107676147	C	T	107676147	2	4	195	1	0	0	0	0	0	0	0	1	14677	813	29	2		2	SLC35F2	11	107676147	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	15052134	107676147	27330369	152	34555											
SIK3	23387	broad.mit.edu	37	chr11	116729228	116729228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtatagtgtggcggctgctGatgtgcactgggagggaagg	7	9	20	5	1	0	1	0	1	0	0	0	3	0	3	0	6	2	4	0	6	3	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:116729228G>C	ENST00000375300.1	-	20	2814	c.2809C>G	c.(2809-2811)Cag>Gag	p.Q937E	SIK3_ENST00000375288.1_Missense_Mutation_p.Q214E|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.Q877E|SIK3_ENST00000434315.2_Missense_Mutation_p.Q718E|SIK3_ENST00000542607.1_Missense_Mutation_p.Q819E|SIK3_ENST00000292055.4_Missense_Mutation_p.Q879E			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	879	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGCGGCTGCTGATGTGCACTG	0.587													12	107					0	0	0	0	C	116729228	G	C	116729228	3	2	195	1	0	0	0	0	1	0	0	0	14407	1299	45	2	1172	2	SIK3	11	116729228	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	9053081	116729228	18277288	153	34556											
OR6T1	219874	broad.mit.edu	37	chr11	123814028	123814028	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacgaaagaagtggtcaataCcattggggccacagaaaggc	15	5	12	9	1	1	2	1	0	0	2	1	3	1	2	2	4	1	0	2	4	5	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:123814028C>A	ENST00000321252.2	-	1	552	c.518G>T	c.(517-519)gGt>gTt	p.G173V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGGTCAATACCATTGGGGCC	0.562													25	21					7.76418e-22	8.57358e-22	1	0	A	123814028	C	A	123814028	3	1	195	1	0	0	0	0	1	0	0	0	11281	507	18	4	456	4	OR6T1	11	123814028	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	7084800	123814028	11192488	154	34557											
PRDM10	56980	broad.mit.edu	37	chr11	129780421	129780421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggtacgtgtgctgcacaGaggaattctgctgctgctgc	7	10	14	10	1	1	1	0	0	1	1	1	2	1	2	0	2	7	7	0	2	2	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:129780421G>A	ENST00000358825.5	-	20	3356	c.3125C>T	c.(3124-3126)tCt>tTt	p.S1042F	PRDM10_ENST00000360871.3_Missense_Mutation_p.S1038F|PRDM10_ENST00000528746.1_Missense_Mutation_p.S999F|PRDM10_ENST00000304538.6_Missense_Mutation_p.S905F|PRDM10_ENST00000526082.1_Missense_Mutation_p.S956F|PRDM10_ENST00000423662.2_Missense_Mutation_p.S943F	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1029					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTGCTGCACAGAGGAATTctg	0.607													11	45					0	0	0	0	A	129780421	G	A	129780421	3	1	195	1	0	0	0	0	1	0	0	0	12531	942	33	2	369	2	PRDM10	11	129780421	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	5966393	129780421	5226095	155	34558											
IFLTD1	160492	broad.mit.edu	37	chr12	25702360	25702360	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatctgaggactagacagAtagtaaccaagaggcattcc	15	8	9	9	0	1	4	0	1	1	3	2	5	2	5	2	2	1	2	2	2	5	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:25702360A>T	ENST00000282881.6	-	2	296	c.147T>A	c.(145-147)taT>taA	p.Y49*	IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000458174.2_Nonsense_Mutation_p.Y70*|IFLTD1_ENST00000413632.2_Nonsense_Mutation_p.Y70*|IFLTD1_ENST00000445693.1_Intron	NM_152590.3	NP_689803.2	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	49						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GACTAGACAGATAGTAACCAA	0.398													22	37					0	0	0	0	T	25702360	A	T	25702360	4	4	195	1	0	0	0	0	0	1	0	0	7583	340	12	5	1047	5	IFLTD1	12	25702360	Nonsense_Mutation	SNP	A	TCGA-CR-7368-01A-11D-2129-08		25702360	108149535	156	34559											
RASSF8	11228	broad.mit.edu	37	chr12	26217552	26217552	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgctagtgatgtgcagctCattctacgacgaactgggcc	9	11	11	10	2	2	1	1	1	1	0	2	3	2	1	1	1	5	3	1	1	4	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:26217552C>G	ENST00000405154.2	+	3	424	c.225C>G	c.(223-225)ctC>ctG	p.L75L	RASSF8_ENST00000381352.3_Silent_p.L75L|RASSF8_ENST00000542865.1_Silent_p.L75L|RASSF8_ENST00000541490.1_Silent_p.L75L|RASSF8_ENST00000282884.9_Silent_p.L75L	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	75	Ras-associating.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ATGTGCAGCTCATTCTACGAC	0.463													21	109					0	0	0	0	G	26217552	C	G	26217552	2	3	195	1	0	0	0	0	0	0	0	1	13174	813	29	2		2	RASSF8	12	26217552	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	515192	26217552	107634343	157	34560											
NELL2	4753	broad.mit.edu	37	chr12	45173642	45173642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacttacttattgcagtCaatgtgtaaaatcaaatggg	14	13	7	7	0	2	0	2	0	0	0	2	0	2	0	0	1	3	2	0	1	7	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:45173642C>T	ENST00000429094.2	-	4	1003	c.499G>A	c.(499-501)Gac>Aac	p.D167N	NELL2_ENST00000333837.4_Missense_Mutation_p.D190N|NELL2_ENST00000395487.2_Missense_Mutation_p.D166N|NELL2_ENST00000437801.2_Missense_Mutation_p.D217N|NELL2_ENST00000452445.2_Missense_Mutation_p.D167N|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000549027.1_Missense_Mutation_p.D166N|NELL2_ENST00000551601.1_Missense_Mutation_p.D166N	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	167	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTATTGCAGTCAATGTGTAAA	0.403													8	82					0	0	0	0	T	45173642	C	T	45173642	3	4	195	1	0	0	0	0	1	0	0	0	10404	826	29	2	2019	2	NELL2	12	45173642	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	18956090	45173642	88678253	158	34561											
DDX23	9416	broad.mit.edu	37	chr12	49225034	49225034	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatccttggccccagccttGaggttggacaacgcaaactc	10	9	9	13	1	0	1	0	1	0	0	2	2	1	2	4	3	3	2	4	3	3	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:49225034G>C	ENST00000308025.3	-	16	2209	c.2130C>G	c.(2128-2130)ctC>ctG	p.L710L		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	710	Helicase C-terminal.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCCCAGCCTTGAGGTTGGACA	0.483													19	146					0	0	0	0	C	49225034	G	C	49225034	2	2	195	1	0	0	0	0	0	0	0	1	4382	1277	45	2		2	DDX23	12	49225034	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	4051392	49225034	84626861	159	34562											
SCN8A	6334	broad.mit.edu	37	chr12	52099309	52099309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtggtggccatggcttatGaagaacagaatcaggcaaca	13	8	12	8	0	1	3	1	1	0	2	1	3	1	3	1	4	2	2	1	4	5	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:52099309G>A	ENST00000354534.5	+	10	1421	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	SCN8A_ENST00000545061.1_Missense_Mutation_p.E415K|SCN8A_ENST00000550891.1_Missense_Mutation_p.E415K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	415					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CATGGCTTATGAAGAACAGAA	0.453													4	33					0	0	0	0	A	52099309	G	A	52099309	3	1	195	1	0	0	0	0	1	0	0	0	14011	1291	45	2	1277	2	SCN8A	12	52099309	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	2874275	52099309	81752586	160	34563											
MYF5	4617	broad.mit.edu	37	chr12	81112735	81112735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacctgggttgcctctcCaggatctggcttctctctct	5	13	9	14	0	4	0	0	0	4	0	7	1	4	1	3	3	3	3	3	3	1	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:81112735C>A	ENST00000228644.3	+	3	825	c.673C>A	c.(673-675)Cag>Aag	p.Q225K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	225					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GTTGCCTCTCCAGGATCTGGC	0.488													25	60					7.41945e-09	7.88834e-09	1	0	A	81112735	C	A	81112735	3	1	195	1	0	0	0	0	1	0	0	0	10097	595	21	4	683	4	MYF5	12	81112735	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	29013426	81112735	52739160	161	34564											
CUX2	23316	broad.mit.edu	37	chr12	111785464	111785464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagccctgactctgagactGaggaccagaagccaaccgtg	12	5	12	12	1	1	5	0	3	1	3	1	7	1	6	4	1	3	0	4	1	2	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:111785464G>A	ENST00000261726.6	+	22	3950	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1266						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTCTGAGACTGAGGACCAGAA	0.622													11	32					0	0	0	0	A	111785464	G	A	111785464	3	1	195	1	0	0	0	0	1	0	0	0	4097	1291	45	2	3882	2	CUX2	12	111785464	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	30672729	111785464	22066431	162	34565											
TRIAP1	51499	broad.mit.edu	37	chr12	120882720	120882720	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccatggcccatgaactcCagtccttcaataggaatctc	10	11	7	13	0	2	1	1	1	1	0	5	2	4	2	4	2	2	0	4	2	4	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:120882720C>T	ENST00000546954.1	-	2	225	c.186G>A	c.(184-186)ctG>ctA	p.L62L	AL021546.6_ENST00000551806.1_Intron|TRIAP1_ENST00000302432.3_5'UTR	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1	62					anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	mitochondrion|perinuclear region of cytoplasm	caspase inhibitor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCATGAACTCCAGTCCTTCAA	0.403													32	156					0	0	0	0	T	120882720	C	T	120882720	2	4	195	1	0	0	0	0	0	0	0	1	16576	581	21	4		4	TRIAP1	12	120882720	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	9097256	120882720	12969175	163	34566											
CLIP1	6249	broad.mit.edu	37	chr12	122794385	122794385	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttctcttcttgcaacgctGaaagctgctgggacttctga	7	13	10	11	2	3	2	0	2	3	0	4	3	3	3	0	1	4	5	0	1	2	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:122794385G>T	ENST00000358808.2	-	19	3639	c.3485C>A	c.(3484-3486)tCa>tAa	p.S1162*	CLIP1_ENST00000361654.4_Nonsense_Mutation_p.S1051*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.S1162*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.S748*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.S1173*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.S1127*	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1173					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTGCAACGCTGAAAGCTGCTG	0.507													19	39					6.94344e-10	7.43755e-10	1	0	T	122794385	G	T	122794385	4	4	195	1	0	0	0	0	0	1	0	0	3562	1294	45	2	826	2	CLIP1	12	122794385	Nonsense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	1911665	122794385	11057510	164	34567											
DIAPH3	81624	broad.mit.edu	37	chr13	60557957	60557957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgatatgtgaagtctggatCcattccatctctatgcaata	11	14	7	9	1	2	1	0	1	2	0	6	3	4	2	2	1	1	1	2	1	5	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr13:60557957C>A	ENST00000400324.4	-	13	1646	c.1426G>T	c.(1426-1428)Gat>Tat	p.D476Y	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.D406Y|DIAPH3_ENST00000400320.1_Missense_Mutation_p.D430Y|DIAPH3_ENST00000267215.4_Missense_Mutation_p.D476Y|DIAPH3_ENST00000400330.1_Missense_Mutation_p.D476Y|DIAPH3_ENST00000377908.2_Missense_Mutation_p.D465Y	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	476	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAGTCTGGATCCATTCCATCT	0.294													31	68					3.03874e-20	3.34261e-20	1	0	A	60557957	C	A	60557957	3	1	195	1	0	0	0	0	1	0	0	0	4557	855	30	2	2239	2	DIAPH3	13	60557957	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08		60557957	54611921	165	34568											
NGDN	25983	broad.mit.edu	37	chr14	23945265	23945265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaggatgaggaggaagatGaagcagaagatgaccagtct	15	6	15	5	0	1	7	0	4	1	3	1	10	1	10	1	3	1	1	1	3	3	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:23945265G>A	ENST00000397154.3	+	7	461	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	NGDN_ENST00000408901.3_Missense_Mutation_p.E150K			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	150	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGAGGAAGATGAAGCAGAAGA	0.423													5	61					0	0	0	0	A	23945265	G	A	23945265	3	1	195	1	0	0	0	0	1	0	0	0	10463	1291	45	2	474	2	NGDN	14	23945265	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08		23945265	83404275	166	34569											
RIN3	79890	broad.mit.edu	37	chr14	93118912	93118912	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccaaagccctgcttcTcaggctgggactcagcaccc	8	6	12	15	0	2	0	2	0	1	0	3	2	2	1	3	3	3	3	3	3	1	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:93118912T>A	ENST00000216487.7	+	6	1677	c.1518T>A	c.(1516-1518)tcT>tcA	p.S506S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	506	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCCTGCTTCTCAGGCTGGGA	0.652													20	40					0	0	0	0	A	93118912	T	A	93118912	2	1	195	1	0	0	0	0	0	0	0	1	13458	1538	54	5		5	RIN3	14	93118912	Silent	SNP	T	TCGA-CR-7368-01A-11D-2129-08	69173647	93118912	14230628	167	34570											
ATG2B	55102	broad.mit.edu	37	chr14	96807957	96807957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtcagaaggtgctatctCtggtaaatttctagttagct	9	15	11	6	0	3	1	1	0	2	1	4	1	3	1	0	3	2	4	0	3	6	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:96807957C>T	ENST00000359933.4	-	6	1719	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	276										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGTGCTATCTCTGGTAAATTT	0.438													16	82					0	0	0	0	T	96807957	C	T	96807957	3	4	195	1	0	0	0	0	1	0	0	0	1098	922	32	2	5558	2	ATG2B	14	96807957	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	3689045	96807957	10541583	168	34571											
AHNAK2	113146	broad.mit.edu	37	chr14	105413766	105413767	+	Frame_Shift_Del	DEL	AG	AG	-																															tcggcttccaccttcagctcAgacacatccaccaacgcctc																										TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:105413766_105413767delAG	ENST00000333244.5	-	7	8140_8141	c.8021_8022delCT	c.(8020-8022)tfs	p.S2674fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2674						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTCAGCTCAGACACATCCAC	0.564													59	226	---	---	---	---					-	105413767	AG	-	105413766	7	5	195	1	0	1	0	1	0	0	0	0	415	175	7	0	9369	0	AHNAK2	14	105413766	Frame_Shift_Del	DEL	AG	TCGA-CR-7368-01A-11D-2129-08	8605809	105413766	1935774	169	34572											
AHNAK2	113146	broad.mit.edu	37	chr14	105418065	105418065	+	Silent	SNP	G	G	A																															ttgggcaggtgccctttgaaGccggctccctcaggcacgtg																										TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:105418065G>A	ENST00000333244.5	-	7	3842	c.3723C>T	c.(3721-3723)ggC>ggT	p.G1241G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1241						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCCTTTGAAGCCGGCTCCCT	0.642													78	36					0	0	0	0	A	105418065	G	A	105418065	2	1	195	1	0	0	0	0	0	0	0	1	415	958	34	4		4	AHNAK2	14	105418065	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	4299	105418065	1931475	170	34573	260	2									
AHNAK2	113146	broad.mit.edu	37	chr14	105418066	105418066	+	Missense_Mutation	SNP	C	C	A																															tgggcaggtgccctttgaagCcggctccctcaggcacgtgg																										TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:105418066C>A	ENST00000333244.5	-	7	3841	c.3722G>T	c.(3721-3723)gGc>gTc	p.G1241V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1241						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTTGAAGCCGGCTCCCTC	0.637													78	36					3.66258e-25	4.06007e-25	1	0	A	105418066	C	A	105418066	3	1	195	1	0	0	0	0	1	0	0	0	415	739	26	4	13669	4	AHNAK2	14	105418066	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	1	105418066	1931474	171	34574	260	2									
MKRN3	7681	broad.mit.edu	37	chr15	23812217	23812217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgagggctggggagatgagCctcctgggccaggtggtggg	5	7	21	8	0	0	3	0	2	0	1	1	4	1	3	3	7	1	1	3	7	0	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:23812217C>A	ENST00000314520.3	+	1	1764	c.1288C>A	c.(1288-1290)Cct>Act	p.P430T	MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	430						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGGAGATGAGCCTCCTGGGCC	0.522													15	46					5.01169e-05	5.23118e-05	1	0	A	23812217	C	A	23812217	3	1	195	1	0	0	0	0	1	0	0	0	9677	739	26	4	1290	4	MKRN3	15	23812217	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08		23812217	78719175	172	34575											
LCMT2	9836	broad.mit.edu	37	chr15	43622164	43622164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggctgcgtcgagccccGcggcgcccagggcctcctcc	3	5	15	18	5	0	1	0	1	0	0	3	2	2	1	6	3	2	1	6	3	0	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:43622164G>A	ENST00000305641.5	-	1	639	c.524C>T	c.(523-525)gCg>gTg	p.A175V	LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	175					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GTCGAGCCCCGCGGCGCCCAG	0.716													23	28					0	0	0	0	A	43622164	G	A	43622164	3	1	195	1	0	0	0	0	1	0	0	0	8732	1087	38	1	1540	1	LCMT2	15	43622164	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	19809947	43622164	58909228	173	34576											
GNB5	10681	broad.mit.edu	37	chr15	52446255	52446255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccccagggcctccaccCgctccgccacctggtgcact	5	6	9	21	2	0	0	0	0	0	0	2	0	2	0	8	2	2	2	8	2	0	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:52446255C>T	ENST00000261837.7	-	4	322	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	GNB5_ENST00000358784.7_Missense_Mutation_p.R44Q|GNB5_ENST00000396335.4_Missense_Mutation_p.R44Q|GNB5_ENST00000560116.1_Missense_Mutation_p.R44Q	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	86						heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.R86Q(1)		large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GGCCTCCACCCGCTCCGCCAC	0.562													9	29					0	0	0	0	T	52446255	C	T	52446255	3	4	195	1	0	0	0	0	1	0	0	0	6572	652	23	1	970	1	GNB5	15	52446255	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	8824091	52446255	50085137	174	34577											
MYO5A	4644	broad.mit.edu	37	chr15	52609388	52609388	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcatcagattcttgtcacGcagccattcttccagttgac	9	14	6	12	1	5	2	3	1	2	1	6	2	6	2	2	0	1	2	2	0	0	6			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:52609388G>C	ENST00000399231.3	-	39	5434	c.5191C>G	c.(5191-5193)Cgt>Ggt	p.R1731G	MYO5A_ENST00000358212.6_Missense_Mutation_p.R1756G|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1728G|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1704G|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1729G	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1731	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTCTTGTCACGCAGCCATTCT	0.368													7	50					0	0	0	0	C	52609388	G	C	52609388	3	2	195	1	0	0	0	0	1	0	0	0	10148	1087	38	3	388	3	MYO5A	15	52609388	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	163133	52609388	49922004	175	34578											
LMAN1L	79748	broad.mit.edu	37	chr15	75105240	75105240	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccttattctgccttctcctCctgctcctggacccccacag	4	12	5	20	0	2	0	0	0	2	0	5	1	4	1	7	1	2	1	7	1	1	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:75105240C>G	ENST00000309664.5	+	1	184	c.45C>G	c.(43-45)ctC>ctG	p.L15L	LMAN1L_ENST00000379709.3_Silent_p.L15L	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	15						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCTTCTCCTCCTGCTCCTGG	0.632													33	60					0	0	0	0	G	75105240	C	G	75105240	2	3	195	1	0	0	0	0	0	0	0	1	8892	842	30	2		2	LMAN1L	15	75105240	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	22495852	75105240	27426152	176	34579											
LMAN1L	79748	broad.mit.edu	37	chr15	75105354	75105354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggggctggaatacccttCtggagccatcatggaggtga	8	9	14	10	0	2	1	1	1	1	0	2	4	2	4	3	6	2	1	3	6	2	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:75105354C>T	ENST00000309664.5	+	1	298	c.159C>T	c.(157-159)ttC>ttT	p.F53F	LMAN1L_ENST00000379709.3_Silent_p.F53F	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	53	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAATACCCTTCTGGAGCCATC	0.617													23	31					0	0	0	0	T	75105354	C	T	75105354	2	4	195	1	0	0	0	0	0	0	0	1	8892	912	32	2		2	LMAN1L	15	75105354	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	114	75105354	27426038	177	34580											
FURIN	5045	broad.mit.edu	37	chr15	91422758	91422758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcagccggcatcattgctCtcaccctggaggccaagtaa	10	8	10	13	1	2	0	2	0	1	0	3	1	2	1	3	3	3	4	3	3	3	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:91422758C>G	ENST00000268171.3	+	10	1417	c.1138C>G	c.(1138-1140)Ctc>Gtc	p.L380V		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	380					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CATCATTGCTCTCACCCTGGA	0.627													4	31					0	0	0	0	G	91422758	C	G	91422758	3	3	195	1	0	0	0	0	1	0	0	0	6147	913	32	2	1172	2	FURIN	15	91422758	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	16317404	91422758	11108634	178	34581											
ST8SIA2	8128	broad.mit.edu	37	chr15	92981732	92981732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgagctcctccccaggacttCgccactgaagaataagcact	11	7	8	15	2	0	2	0	1	0	1	3	4	2	3	4	1	2	2	4	1	3	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:92981732C>T	ENST00000268164.3	+	4	677	c.440C>T	c.(439-441)tCg>tTg	p.S147L	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.S126L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	147					axon guidance|N-glycan processing|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)			CCCAGGACTTCGCCACTGAAG	0.537													9	106					0	0	0	0	T	92981732	C	T	92981732	3	4	195	1	0	0	0	0	1	0	0	0	15322	893	31	1	454	1	ST8SIA2	15	92981732	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	1558974	92981732	9549660	179	34582											
KIAA0556	23247	broad.mit.edu	37	chr16	27720105	27720105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgtccaactggggcaactCgtggtgggtgggtctcacag	6	9	15	11	1	1	0	1	0	1	0	4	0	2	0	2	5	2	1	2	5	2	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:27720105C>T	ENST00000261588.4	+	13	1488	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000563052.1_RNA|CTD-2049O4.1_ENST00000568831.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	490										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGGGCAACTCGTGGTGGGTG	0.488													7	59					0	0	0	0	T	27720105	C	T	27720105	3	4	195	1	0	0	0	0	1	0	0	0	8234	893	31	1	1519	1	KIAA0556	16	27720105	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08		27720105	62634648	180	34583											
SLC5A2	6524	broad.mit.edu	37	chr16	31498885	31498885	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcgggtattcgggtctcttCgacaaatacctgggagcagc	8	9	14	10	3	1	0	0	0	1	0	4	2	1	1	1	4	3	2	1	4	3	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:31498885C>G	ENST00000330498.3	+	7	709	c.690C>G	c.(688-690)ttC>ttG	p.F230L	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	230					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CGGGTCTCTTCGACAAATACC	0.652													4	85					0	0	0	0	G	31498885	C	G	31498885	3	3	195	1	0	0	0	0	1	0	0	0	14753	883	31	3	716	3	SLC5A2	16	31498885	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	3778780	31498885	58855868	181	34584											
CAPNS2	84290	broad.mit.edu	37	chr16	55601232	55601232	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcttccagctaaatgaacaActttaccaaatgattgtccg	13	11	7	10	1	0	2	0	2	0	0	2	2	2	2	3	1	4	2	3	1	6	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:55601232A>G	ENST00000457326.2	+	1	649	c.564A>G	c.(562-564)caA>caG	p.Q188Q	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	188	EF-hand 3.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TAAATGAACAACTTTACCAAA	0.483													47	88					0	0	0	0	G	55601232	A	G	55601232	2	3	195	1	0	0	0	0	0	0	0	1	2659	40	2	5		5	CAPNS2	16	55601232	Silent	SNP	A	TCGA-CR-7368-01A-11D-2129-08	24102347	55601232	34753521	182	34585											
ATMIN	23300	broad.mit.edu	37	chr16	81077197	81077197	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgctctcttaaggagaGcctacctcttttcaaaattg	9	14	8	10	0	3	1	1	0	2	1	4	2	3	1	2	2	3	2	2	2	4	6			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:81077197G>C	ENST00000566488.1	+	3	1589	c.626G>C	c.(625-627)aGc>aCc	p.S209T	ATMIN_ENST00000299575.4_Missense_Mutation_p.S365T|ATMIN_ENST00000564241.1_Missense_Mutation_p.S209T|ATMIN_ENST00000539819.1_3'UTR			O43313	ATMIN_HUMAN	ATM interactor	365					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTTAAGGAGAGCCTACCTCTT	0.458													9	52					0	0	0	0	C	81077197	G	C	81077197	3	2	195	1	0	0	0	0	1	0	0	0	1114	971	34	4	1108	4	ATMIN	16	81077197	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	25475965	81077197	9277556	183	34586											
SLC7A5	8140	broad.mit.edu	37	chr16	87885358	87885359	+	Frame_Shift_Ins	INS	-	-	A																															tctggacgaagcccagcaggINSatgatcagggccagggccag																										TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:87885358_87885359insA	ENST00000261622.4	-	2	700_701	c.635_636insT	c.(634-636)actfs	p.T212fs	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	212					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		AGCCCAGCAGGATGATCAGGGC	0.668													14	26	---	---	---	---					A	87885359	-	A	87885358	7	5	195	1	0	1	1	0	0	0	0	0	14788	1164	41	0	923	0	SLC7A5	16	87885358	Frame_Shift_Ins	INS	-	TCGA-CR-7368-01A-11D-2129-08	6808161	87885358	2469395	184	34587											
FANCA	2175	broad.mit.edu	37	chr16	89849296	89849296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtccccagctgatgacaaatCctcgtagagtcccatgtttt	9	12	8	12	1	0	3	0	2	0	1	4	3	3	3	4	0	1	3	4	0	2	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:89849296C>T	ENST00000389301.3	-	17	1627	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	FANCA_ENST00000568369.1_Missense_Mutation_p.D533N	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	533					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GATGACAAATCCTCGTAGAGT	0.488			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	40					0	0	0	0	T	89849296	C	T	89849296	3	4	195	1	0	0	0	0	1	0	0	0	5707	855	30	2	2878	2	FANCA	16	89849296	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	1963938	89849296	505457	185	34588											
ACADVL	37	broad.mit.edu	37	chr17	7127131	7127131	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgttctttgtccctaGgaggcagcctggaaggtgac	7	12	12	10	0	3	1	1	1	2	0	4	3	4	3	2	4	1	2	2	4	2	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:7127131G>A	ENST00000356839.5	+	13	1448		c.e13-1		ACADVL_ENST00000543245.2_Splice_Site|ACADVL_ENST00000350303.5_Splice_Site	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain						energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						TTTGTCCCTAGGAGGCAGCCT	0.557													24	48					0	0	0	0	A	7127131	G	A	7127131	5	1	195	1	0	0	0	0	0	0	1	0	116	1014	35	4	1319	4	ACADVL	17	7127131	Splice_Site	SNP	G	TCGA-CR-7368-01A-11D-2129-08		7127131	74068079	186	34589											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	43					0	0	0	0	T	7577538	C	T	7577538	3	4	195	1	0	0	0	0	1	0	0	0	16476	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	450407	7577538	73617672	187	34590											
MFSD6L	162387	broad.mit.edu	37	chr17	8701980	8701980	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcaccaggtgggtttctGaagccaggcatttccacctc	7	12	9	13	0	2	1	1	1	1	0	4	1	3	1	4	3	1	2	4	3	1	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:8701980G>A	ENST00000329805.4	-	1	687	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	153						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GTGGGTTTCTGAAGCCAGGCA	0.582													11	93					0	0	0	0	A	8701980	G	A	8701980	2	1	195	1	0	0	0	0	0	0	0	1	9605	1281	45	2		2	MFSD6L	17	8701980	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	1124442	8701980	72493230	188	34591											
MYO18A	399687	broad.mit.edu	37	chr17	27442707	27442707	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcccaggccactctcCtcggggccctggcggaagga	6	6	12	17	2	2	0	0	0	2	0	5	2	2	2	5	6	0	0	5	6	1	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:27442707C>T	ENST00000527372.1	-	12	2382	c.2202G>A	c.(2200-2202)gaG>gaA	p.E734E	MYO18A_ENST00000533112.1_Silent_p.E734E|MYO18A_ENST00000531253.1_Silent_p.E734E|MYO18A_ENST00000354329.4_Silent_p.E734E	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	734	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.E734D(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGCCACTCTCCTCGGGGCCCT	0.642													7	6					0	0	0	0	T	27442707	C	T	27442707	2	4	195	1	0	0	0	0	0	0	0	1	10135	680	24	4		4	MYO18A	17	27442707	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	18740727	27442707	53752503	189	34592											
WNK4	65266	broad.mit.edu	37	chr17	40947834	40947834	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccagggaagctctggctGagagcgaccgtgcagctgag	10	5	16	10	2	1	3	0	2	1	2	1	6	1	4	2	2	4	4	2	2	1	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:40947834G>C	ENST00000246914.5	+	16	3235	c.3214G>C	c.(3214-3216)Gag>Cag	p.E1072Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1072					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGCTCTGGCTGAGAGCGACCG	0.607													3	40					0	0	0	0	C	40947834	G	C	40947834	3	2	195	1	0	0	0	0	1	0	0	0	17476	1291	45	2	3276	2	WNK4	17	40947834	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	13505127	40947834	40247376	190	34593											
XYLT2	64132	broad.mit.edu	37	chr17	48432263	48432263	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagctggcccagggctatGataacgtgcgggtgacgccc	7	7	16	11	3	0	2	0	2	0	0	0	3	0	3	2	4	3	2	2	4	2	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:48432263G>C	ENST00000017003.2	+	4	902	c.853G>C	c.(853-855)Gat>Cat	p.D285H	XYLT2_ENST00000507602.1_Missense_Mutation_p.D285H	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	285					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CCAGGGCTATGATAACGTGCG	0.642													7	86					0	0	0	0	C	48432263	G	C	48432263	3	2	195	1	0	0	0	0	1	0	0	0	17560	1290	45	2	867	2	XYLT2	17	48432263	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	7484429	48432263	32762947	191	34594											
ZNF750	79755	broad.mit.edu	37	chr17	80790225	80790226	+	Frame_Shift_Ins	INS	-	-	A																															ttaaaaagatgtgacttctcINSattgcaagtaaagggacatt																										TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:80790225_80790226insA	ENST00000269394.3	-	2	938_939	c.105_106insT	c.(103-108)aaagaafs	p.KE35fs	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	35						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGTGACTTCTCATTGCAAGTAA	0.411													69	29	---	---	---	---					A	80790226	-	A	80790225	7	5	195	1	0	1	1	0	0	0	0	0	18226	835	29	0	2073	0	ZNF750	17	80790225	Frame_Shift_Ins	INS	-	TCGA-CR-7368-01A-11D-2129-08	32357962	80790225	404985	192	34595											
COLEC12	81035	broad.mit.edu	37	chr18	480723	480723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaccaaaccgcttgtaaccGaaggattgcacctcctcctc	10	9	6	16	2	1	0	1	0	0	0	4	2	3	1	6	1	3	3	6	1	3	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr18:480723G>A	ENST00000400256.3	-	2	249	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	14					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCTTGTAACCGAAGGATTGCA	0.552													12	49					0	0	0	0	A	480723	G	A	480723	2	1	195	1	0	0	0	0	0	0	0	1	3742	1049	37	1		1	COLEC12	18	480723	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08		480723	77596525	193	34596											
DSG2	1829	broad.mit.edu	37	chr18	29104495	29104495	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtaaaacaagctcaagttCagattcgtattttggatgtc	12	14	8	7	1	2	1	2	0	0	1	4	2	2	2	0	1	2	4	0	1	5	6			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr18:29104495C>T	ENST00000261590.8	+	7	984	c.775C>T	c.(775-777)Cag>Tag	p.Q259*		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	259	Cadherin 2.				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)			AGCTCAAGTTCAGATTCGTAT	0.343													5	35					0	0	0	0	T	29104495	C	T	29104495	4	4	195	1	0	0	0	0	0	1	0	0	4813	827	29	2	801	2	DSG2	18	29104495	Nonsense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	28623772	29104495	48972753	194	34597											
CDH20	28316	broad.mit.edu	37	chr18	59221721	59221721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccaagctctacgaggcCgacatggacctgtgggcacc	8	6	13	14	2	1	0	0	0	1	0	1	3	1	1	4	4	2	2	4	4	2	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr18:59221721C>T	ENST00000262717.4	+	12	2597	c.2199C>T	c.(2197-2199)gcC>gcT	p.A733A	CDH20_ENST00000538374.1_Silent_p.A733A|CDH20_ENST00000536675.2_Silent_p.A733A			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	733					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCTACGAGGCCGACATGGACC	0.642													3	33					0	0	0	0	T	59221721	C	T	59221721	2	4	195	1	0	0	0	0	0	0	0	1	3135	639	23	1		1	CDH20	18	59221721	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	30117226	59221721	18855527	195	34598											
MAP2K2	5605	broad.mit.edu	37	chr19	4101137	4101137	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgaggatgttggagggcttCacatctggaggcggcaggct	8	8	17	8	2	2	0	1	0	1	0	2	4	2	3	0	7	0	4	0	7	0	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:4101137C>G	ENST00000262948.5	-	6	838	c.585G>C	c.(583-585)gtG>gtC	p.V195V	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Silent_p.V98V	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	195	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGGGCTTCACATCTGGAG	0.662													6	13					0	0	0	0	G	4101137	C	G	4101137	2	3	195	1	0	0	0	0	0	0	0	1	9306	813	29	2		2	MAP2K2	19	4101137	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08		4101137	55027846	196	34599											
PLIN4	729359	broad.mit.edu	37	chr19	4511815	4511815	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacagtcttggtggtgtcCacactggtctggacagtccc	7	10	13	11	0	2	0	0	0	2	0	4	2	4	2	2	5	0	0	2	5	0	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:4511815C>T	ENST00000301286.3	-	3	2114	c.2115G>A	c.(2113-2115)gtG>gtA	p.V705V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	705	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGTGGTGTCCACACTGGTCT	0.607													14	426					0	0	0	0	T	4511815	C	T	4511815	2	4	195	1	0	0	0	0	0	0	0	1	12164	581	21	4		4	PLIN4	19	4511815	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	410678	4511815	54617168	197	34600											
ACER1	125981	broad.mit.edu	37	chr19	6309843	6309843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaccaggcggatgaactggGacctggggaggaaggggctc	10	4	19	8	1	0	2	0	1	0	1	1	6	0	6	2	8	1	1	2	8	2	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:6309843G>A	ENST00000301452.4	-	4	430	c.353C>T	c.(352-354)tCc>tTc	p.S118F		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	118						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GATGAACTGGGACCTGGGGAG	0.617													6	32					0	0	0	0	A	6309843	G	A	6309843	3	1	195	1	0	0	0	0	1	0	0	0	138	1174	41	2	453	2	ACER1	19	6309843	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	1798028	6309843	52819140	198	34601											
MYO1F	4542	broad.mit.edu	37	chr19	8618294	8618294	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgatatatttggctgcCactgtcttcccagctccact	7	13	6	15	0	1	1	0	1	1	0	3	1	3	1	4	1	2	2	4	1	2	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:8618294C>G	ENST00000338257.8	-	5	621	c.354G>C	c.(352-354)gtG>gtC	p.V118V		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	118	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATTTGGCTGCCACTGTCTTCC	0.517													6	87					0	0	0	0	G	8618294	C	G	8618294	2	3	195	1	0	0	0	0	0	0	0	1	10143	581	21	4		4	MYO1F	19	8618294	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	2308451	8618294	50510689	199	34602											
ZNF266	10781	broad.mit.edu	37	chr19	9528555	9528555	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcttgttccagccaagAgatcagactgggtttgaaga	10	12	10	9	0	3	4	1	1	2	3	4	5	4	4	2	1	1	2	2	1	2	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:9528555A>T	ENST00000592904.1	-	3	2140	c.64T>A	c.(64-66)Tct>Act	p.S22T	ZNF266_ENST00000361451.2_Missense_Mutation_p.S22T|ZNF266_ENST00000361151.1_Missense_Mutation_p.S22T|ZNF266_ENST00000588221.1_Missense_Mutation_p.S22T|ZNF266_ENST00000592292.1_Missense_Mutation_p.S22T|ZNF266_ENST00000590306.1_Missense_Mutation_p.S22T|ZNF266_ENST00000588933.1_Missense_Mutation_p.S22T			Q14584	ZN266_HUMAN	zinc finger protein 266	22	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TCCAGCCAAGAGATCAGACTG	0.438													61	111					0	0	0	0	T	9528555	A	T	9528555	3	4	195	1	0	0	0	0	1	0	0	0	17900	304	11	5	1597	5	ZNF266	19	9528555	Missense_Mutation	SNP	A	TCGA-CR-7368-01A-11D-2129-08	910261	9528555	49600428	200	34603											
DNM2	1785	broad.mit.edu	37	chr19	10893634	10893635	+	Splice_Site	INS	-	-	GGCTACATT																															cctgactgcctctccccacaINSggctacattggcgtggtgaa																										TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:10893634_10893635insGGCTACATT	ENST00000314646.5	+	6	852		c.e6-1		DNM2_ENST00000585892.1_Splice_Site|DNM2_ENST00000408974.4_Splice_Site|DNM2_ENST00000355667.6_Splice_Site|DNM2_ENST00000389253.4_Splice_Site|DNM2_ENST00000359692.6_Splice_Site			P50570	DYN2_HUMAN	dynamin 2						G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTCTCCCCACAGGCTACATTGG	0.574			"F, N, Splice, Mis, O"		ETP ALL								9	54	---	---	---	---					GGCTACATT	10893635	-	GGCTACATT	10893634	8	5	195	1	0	1	1	0	0	0	1	0	4708	202	7	0	709	0	DNM2	19	10893634	Splice_Site	INS	-	TCGA-CR-7368-01A-11D-2129-08	1365079	10893634	48235349	201	34604											
HOOK2	29911	broad.mit.edu	37	chr19	12878702	12878702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcccgcaaggagtcccGctccgccaacagccgctgca	7	4	11	19	4	0	0	0	0	0	0	3	1	3	1	6	2	3	4	6	2	2	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:12878702G>A	ENST00000264827.5	-	13	1401	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	HOOK2_ENST00000397668.3_Missense_Mutation_p.R411W|HOOK2_ENST00000589965.1_Intron	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	411	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AAGGAGTCCCGCTCCGCCAAC	0.677													21	22					0	0	0	0	A	12878702	G	A	12878702	3	1	195	1	0	0	0	0	1	0	0	0	7333	1086	38	1	972	1	HOOK2	19	12878702	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	1985068	12878702	46250281	202	34605											
CYP4F8	11283	broad.mit.edu	37	chr19	15728925	15728925	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatcaacttgtgccaccctGacatcgtccgatctgtcatc	8	12	6	15	2	4	1	3	1	1	0	7	2	5	1	3	0	2	0	3	0	1	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:15728925G>C	ENST00000441682.2	+	0	377							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GTGCCACCCTGACATCGTCCG	0.577													17	98					0	0	0	0	C	15728925	G	C	15728925	1	2	195	0	1	0	0	0	0	0	0	0	4223	1290	45	2		2	CYP4F8	19	15728925	RNA	SNP	G	TCGA-CR-7368-01A-11D-2129-08	2850223	15728925	43400058	203	34606											
FCGBP	8857	broad.mit.edu	37	chr19	40368715	40368715	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagagcccgcacactgcGccatgatagctgctggggag	8	5	14	14	3	0	2	0	1	0	1	0	3	0	3	3	2	4	4	3	2	1	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:40368715G>A	ENST00000221347.6	-	28	12640	c.12633C>T	c.(12631-12633)ggC>ggT	p.G4211G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4211	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCACACTGCGCCATGATAGC	0.597													31	348					0	0	0	0	A	40368715	G	A	40368715	2	1	195	1	0	0	0	0	0	0	0	1	5823	1074	38	1		1	FCGBP	19	40368715	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	24639790	40368715	18760268	204	34607											
TSKS	60385	broad.mit.edu	37	chr19	50266447	50266447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccacccccgtgggggtgtCcccggcctcatggatctctt	3	10	11	17	2	2	0	1	0	1	0	5	1	4	1	6	4	0	0	6	4	0	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:50266447C>T	ENST00000246801.3	-	1	140	c.58G>A	c.(58-60)Gac>Aac	p.D20N		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	20							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTGGGGGTGTCCCCGGCCTCA	0.657													16	74					0	0	0	0	T	50266447	C	T	50266447	3	4	195	1	0	0	0	0	1	0	0	0	16721	855	30	2	1764	2	TSKS	19	50266447	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	9897732	50266447	8862536	205	34608											
RDH13	112724	broad.mit.edu	37	chr19	55559839	55559839	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaacatgggccagggacgaGaggttgatgatccgcgaagg	11	5	17	8	3	0	3	0	2	0	1	1	6	1	4	2	4	1	2	2	4	2	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:55559839G>C	ENST00000396247.3	-	6	775	c.303C>G	c.(301-303)ctC>ctG	p.L101L	RDH13_ENST00000415061.3_Silent_p.L172L|CTC-550B14.6_ENST00000585492.1_RNA	NM_138412.3	NP_612421.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	172							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CCAGGGACGAGAGGTTGATGA	0.512													5	67					0	0	0	0	C	55559839	G	C	55559839	2	2	195	1	0	0	0	0	0	0	0	1	13274	929	33	2		2	RDH13	19	55559839	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	5293392	55559839	3569144	206	34609											
NLRP4	147945	broad.mit.edu	37	chr19	56369423	56369423	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctataacagagatcgtgtctCaaccggagagactcttgttc	11	11	9	10	2	2	2	1	0	2	2	5	5	2	3	1	1	2	1	1	1	3	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:56369423C>G	ENST00000301295.6	+	3	1086	c.664C>G	c.(664-666)Caa>Gaa	p.Q222E	NLRP4_ENST00000346986.5_Missense_Mutation_p.Q222E|NLRP4_ENST00000587891.1_Missense_Mutation_p.Q147E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	222	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GATCGTGTCTCAACCGGAGAG	0.547													4	89					0	0	0	0	G	56369423	C	G	56369423	3	3	195	1	0	0	0	0	1	0	0	0	10549	827	29	2	670	2	NLRP4	19	56369423	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	809584	56369423	2759560	207	34610											
ZNF211	10520	broad.mit.edu	37	chr19	58152803	58152803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggccttatgcgtgccctGaatgtgggaaatcgtttagt	10	12	12	7	2	0	1	0	1	0	0	1	2	0	2	2	2	2	1	2	2	5	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:58152803G>A	ENST00000544273.1	+	5	1312	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	ZNF211_ENST00000240731.4_Missense_Mutation_p.E330K|ZNF211_ENST00000541801.1_Missense_Mutation_p.E308K|ZNF211_ENST00000391703.3_Missense_Mutation_p.E256K|ZNF211_ENST00000420680.1_Missense_Mutation_p.E321K|ZNF211_ENST00000347302.3_Missense_Mutation_p.E317K|ZNF211_ENST00000254182.7_Missense_Mutation_p.E308K|ZNF211_ENST00000299871.5_Missense_Mutation_p.E382K			Q13398	ZN211_HUMAN	zinc finger protein 211	317						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCGTGCCCTGAATGTGGGAA	0.408													18	79					0	0	0	0	A	58152803	G	A	58152803	3	1	195	1	0	0	0	0	1	0	0	0	17862	1291	45	2	1002	2	ZNF211	19	58152803	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	1783380	58152803	976180	208	34611											
ZNF274	10782	broad.mit.edu	37	chr19	58697098	58697098	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccagtgacctttgaagAtgtaacactgggttttaccc	11	11	10	9	0	0	3	0	2	0	1	0	4	0	4	3	2	3	2	3	2	4	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:58697098A>T	ENST00000326804.4	+	3	512	c.53A>T	c.(52-54)gAt>gTt	p.D18V	ZNF274_ENST00000424679.2_Intron|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.D18V	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	18	KRAB 1.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ACCTTTGAAGATGTAACACTG	0.517													42	65					0	0	0	0	T	58697098	A	T	58697098	3	4	195	1	0	0	0	0	1	0	0	0	17904	333	12	5	59	5	ZNF274	19	58697098	Missense_Mutation	SNP	A	TCGA-CR-7368-01A-11D-2129-08	544295	58697098	431885	209	34612											
SNX5	27131	broad.mit.edu	37	chr20	17937598	17937598	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtgtgcactgtaaatttGactttgtctctctcactgag	7	18	8	8	0	2	2	1	2	2	0	4	2	2	2	0	0	1	2	0	0	2	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:17937598G>C	ENST00000377768.3	-	3	447	c.135C>G	c.(133-135)gtC>gtG	p.V45V	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Silent_p.V45V	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	45	PX.|Phosphatidylinositol bisphosphate binding (By similarity).				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CTGTAAATTTGACTTTGTCTC	0.423													16	57					0	0	0	0	C	17937598	G	C	17937598	2	2	195	1	0	0	0	0	0	0	0	1	14993	1277	45	2		2	SNX5	20	17937598	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08		17937598	45087922	210	34613											
ACSS1	84532	broad.mit.edu	37	chr20	25038407	25038407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccgaagcccactcaccaGagacatttaactggcctccc	10	7	6	18	1	1	1	1	0	0	1	3	3	3	1	5	1	2	0	5	1	2	2	rs141662914		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:25038407G>A	ENST00000323482.4	-	1	411	c.332C>T	c.(331-333)tCt>tTt	p.S111F	ACSS1_ENST00000432802.2_Missense_Mutation_p.S111F|ACSS1_ENST00000376726.3_Missense_Mutation_p.S111F	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	111					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCACTCACCAGAGACATTTAA	0.667													7	47					0	0	0	0	A	25038407	G	A	25038407	3	1	195	1	0	0	0	0	1	0	0	0	188	942	33	2	1793	2	ACSS1	20	25038407	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	7100809	25038407	37987113	211	34614											
NANP	140838	broad.mit.edu	37	chr20	25604531	25604531	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctcgccccggccgtgtcGatgagagtgttgtccaagtc	5	10	13	13	4	0	1	0	1	0	1	4	3	1	1	4	1	1	2	4	1	1	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:25604531G>A	ENST00000304788.3	-	1	280	c.54C>T	c.(52-54)atC>atT	p.I18I		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	18					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						CGGCCGTGTCGATGAGAGTGT	0.701													4	26					0	0	0	0	A	25604531	G	A	25604531	2	1	195	1	0	0	0	0	0	0	0	1	10224	1048	37	1		1	NANP	20	25604531	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	566124	25604531	37420989	212	34615											
ITCH	83737	broad.mit.edu	37	chr20	33045206	33045206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcccaaagagaagagaacaGacagcaatggcagagtatat	18	6	10	7	0	0	4	0	0	0	4	1	6	1	4	1	1	2	3	1	1	6	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:33045206G>A	ENST00000374864.4	+	13	1435	c.1222G>A	c.(1222-1224)Gac>Aac	p.D408N	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Missense_Mutation_p.D298N|ITCH_ENST00000262650.6_Missense_Mutation_p.D449N	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	449	Required for interaction with FYN.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GAAGAGAACAGACAGCAATGG	0.403													4	20					0	0	0	0	A	33045206	G	A	33045206	3	1	195	1	0	0	0	0	1	0	0	0	7921	942	33	2	1264	2	ITCH	20	33045206	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	7440675	33045206	29980314	213	34616											
ADIG	149685	broad.mit.edu	37	chr20	37209995	37209995	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgttgttattgatcatctgGctacgcttcttacttagcca	7	17	7	10	1	3	1	1	1	2	0	3	1	3	1	1	1	3	4	1	1	4	7			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:37209995G>A	ENST00000537425.1	+	1	158	c.87G>A	c.(85-87)tgG>tgA	p.W29*	ADIG_ENST00000373348.3_Nonsense_Mutation_p.W34*	NM_001018082.1	NP_001018092.1	Q0VDE8	ADIG_HUMAN	adipogenin	34					brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus				endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				TGATCATCTGGCTACGCTTCT	0.517													40	49					0	0	0	0	A	37209995	G	A	37209995	4	1	195	1	0	0	0	0	0	1	0	0	316	1212	42	4	104	4	ADIG	20	37209995	Nonsense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	4164789	37209995	25815525	214	34617											
MAFB	9935	broad.mit.edu	37	chr20	39316788	39316788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcttcaggcggatcacctCgtccttggtgaagccccgca	6	9	11	15	3	2	1	2	1	0	0	4	2	3	2	4	3	2	2	4	3	1	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:39316788C>T	ENST00000373313.2	-	1	1092	c.703G>A	c.(703-705)Gag>Aag	p.E235K	MAFB_ENST00000396967.1_Missense_Mutation_p.E235K	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	235					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CGGATCACCTCGTCCTTGGTG	0.647			T	IGH@	MM								5	12					0	0	0	0	T	39316788	C	T	39316788	3	4	195	1	0	0	0	0	1	0	0	0	9223	893	31	1	272	1	MAFB	20	39316788	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	2106793	39316788	23708732	215	34618											
ZNF334	55713	broad.mit.edu	37	chr20	45130984	45130985	+	Frame_Shift_Ins	INS	-	-	A																															tcagccagggctgacttccgINSaaaaaaggtctttccacatt																										TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:45130984_45130985insA	ENST00000457685.2	-	6	2202_2203	c.879_880insT	c.(877-882)ttggaafs	p.LE293fs	ZNF334_ENST00000593880.1_Frame_Shift_Ins_p.LE354fs|ZNF334_ENST00000347606.4_Frame_Shift_Ins_p.LE331fs			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GCTGACTTCCGAAAAAAGGTCT	0.436													7	185	---	---	---	---					A	45130985	-	A	45130984	7	5	195	1	0	1	1	0	0	0	0	0	17946	1057	37	0	1052	0	ZNF334	20	45130984	Frame_Shift_Ins	INS	-	TCGA-CR-7368-01A-11D-2129-08	5814196	45130984	17894536	216	34619											
ZNFX1	57169	broad.mit.edu	37	chr20	47863847	47863847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaagttcatcaggttgttgGccgtgtcagaccaggcagca	10	9	12	10	1	3	1	3	0	0	1	3	1	3	1	2	3	1	5	2	3	1	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:47863847G>A	ENST00000396105.1	-	14	5960	c.5714C>T	c.(5713-5715)gCc>gTc	p.A1905V	ZNFX1_ENST00000371752.1_Missense_Mutation_p.A1905V|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1905							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGGTTGTTGGCCGTGTCAGA	0.522													30	64					0	0	0	0	A	47863847	G	A	47863847	3	1	195	1	0	0	0	0	1	0	0	0	18298	1203	42	4	46	4	ZNFX1	20	47863847	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	2732863	47863847	15161673	217	34620											
BMP7	655	broad.mit.edu	37	chr20	55840910	55840910	+	Frame_Shift_Del	DEL	A	A	-																															cgccgccctcctccaccgccAtggcgttgtacaggtccagc																										TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:55840910delA	ENST00000395863.3	-	1	774	c.269delT	c.(268-270)agfs	p.M90fs	BMP7_ENST00000395864.3_Frame_Shift_Del_p.M90fs|BMP7_ENST00000450594.2_Frame_Shift_Del_p.M90fs	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	90					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTCCACCGCCATGGCGTTGTA	0.672													7	9	---	---	---	---					-	55840910	A	-	55840910	7	5	195	1	0	1	0	1	0	0	0	0	1470	217	8	0	1054	0	BMP7	20	55840910	Frame_Shift_Del	DEL	A	TCGA-CR-7368-01A-11D-2129-08	7977063	55840910	7184610	218	34621											
MYT1	4661	broad.mit.edu	37	chr20	62871203	62871203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtttctggagctgtccGgcctgagccaggccctcatc	4	10	11	16	1	2	1	1	1	1	0	4	2	3	2	5	3	2	2	5	3	0	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:62871203G>T	ENST00000536311.1	+	22	3629	c.3265G>T	c.(3265-3267)Ggc>Tgc	p.G1089C	MYT1_ENST00000328439.1_Missense_Mutation_p.G1062C			Q01538	MYT1_HUMAN	myelin transcription factor 1	1062				DA -> VP (in Ref. 5; AAA59897).	cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAGCTGTCCGGCCTGAGCCA	0.592													19	119					7.41877e-09	7.88834e-09	1	0	T	62871203	G	T	62871203	3	4	195	1	0	0	0	0	1	0	0	0	10176	1116	39	3	3262	3	MYT1	20	62871203	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	7030293	62871203	154317	219	34622											
GABPA	2551	broad.mit.edu	37	chr21	27136626	27136626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaagagcgccgaggatttCaggagaagatagaagctcac	16	5	12	8	2	2	4	2	0	0	4	2	7	2	5	1	2	2	1	1	2	4	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr21:27136626C>T	ENST00000354828.3	+	8	1435	c.908C>T	c.(907-909)tCa>tTa	p.S303L	GABPA_ENST00000400075.3_Missense_Mutation_p.S303L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	303					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S303L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CCGAGGATTTCAGGAGAAGAT	0.338													16	24					0	0	0	0	T	27136626	C	T	27136626	3	4	195	1	0	0	0	0	1	0	0	0	6205	838	29	2	934	2	GABPA	21	27136626	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08		27136626	20993269	220	34623											
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744345	31744345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacgtctggcagctggtggGctcccagcagatctcctgac	6	8	14	13	1	2	2	0	1	2	1	4	3	3	3	2	4	2	4	2	4	0	0			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr21:31744345G>A	ENST00000399889.2	-	1	212	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	63	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CAGCTGGTGGGCTCCCAGCAG	0.602													23	43					0	0	0	0	A	31744345	G	A	31744345	3	1	195	1	0	0	0	0	1	0	0	0	8575	1203	42	4	344	4	KRTAP13-2	21	31744345	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08	4607719	31744345	16385550	221	34624											
ZNF280A	129025	broad.mit.edu	37	chr22	22869589	22869589	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagctcattttataaccaggTtcagatgaagacttcatagt	13	13	8	7	0	3	3	3	1	0	2	3	4	3	3	1	1	2	2	1	1	4	6			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr22:22869589T>C	ENST00000302097.3	-	2	618	c.366A>G	c.(364-366)gaA>gaG	p.E122E		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TATAACCAGGTTCAGATGAAG	0.483													35	51					0	0	0	0	C	22869589	T	C	22869589	2	2	195	1	0	0	0	0	0	0	0	1	17909	1722	60	5		5	ZNF280A	22	22869589	Silent	SNP	T	TCGA-CR-7368-01A-11D-2129-08		22869589	28434977	222	34625											
MICALL1	85377	broad.mit.edu	37	chr22	38323542	38323542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagagcttctggagccGccagctgtgcccaagagctc	7	7	14	13	1	1	2	0	0	1	2	2	3	1	3	3	2	6	4	3	2	1	1	rs138192828		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr22:38323542G>A	ENST00000215957.6	+	9	1716	c.1590G>A	c.(1588-1590)ccG>ccA	p.P530P	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	530	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TTCTGGAGCCGCCAGCTGTGC	0.657													33	53					0	0	0	0	A	38323542	G	A	38323542	2	1	195	1	0	0	0	0	0	0	0	1	9642	1074	38	1		1	MICALL1	22	38323542	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	15453953	38323542	12981024	223	34626											
APOBEC3H	164668	broad.mit.edu	37	chr22	39497505	39497505	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccggtggaggtcatgggcttCccaagtaggaaagaggcttt	9	9	15	8	1	1	1	1	0	0	1	2	3	2	3	2	6	0	3	2	6	3	3			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr22:39497505C>T	ENST00000442487.3	+	3	541	c.414C>T	c.(412-414)ttC>ttT	p.F138F	APOBEC3H_ENST00000421988.2_Silent_p.F138F|APOBEC3H_ENST00000401756.1_Silent_p.F138F|APOBEC3H_ENST00000348946.4_Silent_p.F138F	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	138					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					TCATGGGCTTCCCAAGTAGGA	0.627													13	47					0	0	0	0	T	39497505	C	T	39497505	2	4	195	1	0	0	0	0	0	0	0	1	797	854	30	2		2	APOBEC3H	22	39497505	Silent	SNP	C	TCGA-CR-7368-01A-11D-2129-08	1173963	39497505	11807061	224	34627											
PPP2R3B	28227	broad.mit.edu	37	chrX	306382	306382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcagctggttgatgtccGcctcctcctccagcagcgcc	4	9	11	17	3	1	1	1	1	0	0	5	1	5	1	6	2	3	3	6	2	0	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:306382G>A	ENST00000390665.3	-	7	923	c.905C>T	c.(904-906)gCg>gTg	p.A302V		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	302					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTTGATGTCCGCCTCCTCCTC	0.637													19	45					0	0	0	0	A	306382	G	A	306382	3	1	195	1	0	0	0	0	1	0	0	0	12465	1087	38	1	850	1	PPP2R3B	23	306382	Missense_Mutation	SNP	G	TCGA-CR-7368-01A-11D-2129-08		306382	154964178	225	34628											
CSF2RA	1438	broad.mit.edu	37	chrX	1407734	1407734	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtacctgggcgaggggtccGacggccccccgtgacgtcca	5	6	15	15	5	0	1	0	1	0	0	2	3	2	1	6	4	1	1	6	4	1	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:1407734G>A	ENST00000381524.3	+	6	612	c.426G>A	c.(424-426)ccG>ccA	p.P142P	CSF2RA_ENST00000361536.3_Silent_p.P142P|CSF2RA_ENST00000381500.1_Silent_p.P142P|CSF2RA_ENST00000417535.2_Silent_p.P142P|CSF2RA_ENST00000355805.2_Silent_p.P142P|CSF2RA_ENST00000381509.3_Silent_p.P142P|CSF2RA_ENST00000501036.2_Silent_p.P9P|CSF2RA_ENST00000432318.2_Silent_p.P142P|CSF2RA_ENST00000381529.3_Silent_p.P142P|CSF2RA_ENST00000355432.3_Silent_p.P142P			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	142						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGAGGGGTCCGACGGCCCCCC	0.478													53	68					0	0	0	0	A	1407734	G	A	1407734	2	1	195	1	0	0	0	0	0	0	0	1	3966	1045	37	1		1	CSF2RA	23	1407734	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	1101352	1407734	153862826	226	34629											
PIGA	5277	broad.mit.edu	37	chrX	15349714	15349714	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccgaacaaatatgtacctGagcaatggcagactgtgaaa	15	8	9	9	1	0	3	0	2	0	1	1	4	1	3	2	1	3	3	2	1	6	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:15349714G>A	ENST00000333590.4	-	2	423	c.339C>T	c.(337-339)ctC>ctT	p.L113L	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	113					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					ATATGTACCTGAGCAATGGCA	0.478													43	10					0	0	0	0	A	15349714	G	A	15349714	2	1	195	1	0	0	0	0	0	0	0	1	11956	1277	45	2		2	PIGA	23	15349714	Silent	SNP	G	TCGA-CR-7368-01A-11D-2129-08	13941980	15349714	139920846	227	34630											
SH3KBP1	30011	broad.mit.edu	37	chrX	19568091	19568091	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtttgaggagacacttaCagatgtgagggactgggacg	12	8	15	6	1	0	4	0	2	0	2	0	7	0	6	0	3	1	1	0	3	1	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:19568091C>T	ENST00000397821.3	-	14	1785		c.e14+1		SH3KBP1_ENST00000541422.1_Splice_Site|SH3KBP1_ENST00000379698.4_Splice_Site|SH3KBP1_ENST00000379716.1_Splice_Site	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1						apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GAGACACTTACAGATGTGAGG	0.488													5	74					0	0	0	0	T	19568091	C	T	19568091	5	4	195	1	0	0	0	0	0	0	1	0	14343	492	17	4	522	4	SH3KBP1	23	19568091	Splice_Site	SNP	C	TCGA-CR-7368-01A-11D-2129-08	4218377	19568091	135702469	228	34631											
SAT1	6303	broad.mit.edu	37	chrX	23803928	23803928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagggttggagactgttCaagatcgacaaggagtactt	13	9	14	5	1	1	3	1	0	0	3	2	7	1	4	0	3	1	3	0	3	4	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:23803928C>A	ENST00000379270.4	+	6	650	c.471C>A	c.(469-471)ttC>ttA	p.F157L	SAT1_ENST00000379254.1_Missense_Mutation_p.F129L|SAT1_ENST00000489394.1_3'UTR	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	157	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	GGAGACTGTTCAAGATCGACA	0.423													17	15					1.40151e-16	1.52989e-16	1	0	A	23803928	C	A	23803928	3	1	195	1	0	0	0	0	1	0	0	0	13937	825	29	2	493	2	SAT1	23	23803928	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	4235837	23803928	131466632	229	34632											
KDM6A	7403	broad.mit.edu	37	chrX	44870205	44870205	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttttcccttcctttacaGaatgctgcctttttatatgg	6	20	5	10	0	1	1	0	0	1	1	3	1	3	1	3	1	3	1	3	1	4	9			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:44870205G>A	ENST00000377967.4	+	5	425		c.e5-1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(10)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCCTTTACAGAATGCTGCCT	0.299			"D, N, F, S"		"renal, oesophageal SCC, MM"								5	6					0	0	0	0	A	44870205	G	A	44870205	5	1	195	1	0	0	0	0	0	0	1	0	8189	956	33	2	402	2	KDM6A	23	44870205	Splice_Site	SNP	G	TCGA-CR-7368-01A-11D-2129-08	21066277	44870205	110400355	230	34633											
MTMR8	55613	broad.mit.edu	37	chrX	63555987	63555987	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttgtggcccatggataTccattccttctctatcaaga	11	13	6	11	0	2	1	1	0	1	1	5	2	4	2	3	2	1	0	3	2	4	5			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:63555987T>A	ENST00000374852.3	-	10	1190	c.1123A>T	c.(1123-1125)Ata>Tta	p.I375L	MTMR8_ENST00000478487.1_Intron|MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	375	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCCATGGATATCCATTCCTTC	0.338													33	10					0	0	0	0	A	63555987	T	A	63555987	3	1	195	1	0	0	0	0	1	0	0	0	10019	1435	50	5	1011	5	MTMR8	23	63555987	Missense_Mutation	SNP	T	TCGA-CR-7368-01A-11D-2129-08	18685782	63555987	91714573	231	34634											
IGSF1	3547	broad.mit.edu	37	chrX	130412064	130412064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggagttgtagttcctggcCccggattgtgggggaagcag	6	9	17	9	2	0	0	0	0	0	0	1	3	1	3	4	5	1	4	4	5	2	4			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:130412064C>T	ENST00000370904.1	-	19	2969	c.2059G>A	c.(2059-2061)Ggc>Agc	p.G687S	IGSF1_ENST00000370903.3_Missense_Mutation_p.G701S|IGSF1_ENST00000370910.1_Missense_Mutation_p.G687S|IGSF1_ENST00000361420.3_Missense_Mutation_p.G696S			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	696	Ig-like C2-type 7.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGTTCCTGGCCCCGGATTGTG	0.532													37	18					0	0	0	0	T	130412064	C	T	130412064	3	4	195	1	0	0	0	0	1	0	0	0	7649	623	22	4	1956	4	IGSF1	23	130412064	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	66856077	130412064	24858496	232	34635											
ZNF75D	7626	broad.mit.edu	37	chrX	134426280	134426280	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtagtacccggtatgtattCcaatattctttctggaacac	10	15	7	9	1	2	0	0	0	2	0	3	1	3	1	2	2	2	4	2	2	7	8			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:134426280C>T	ENST00000370766.3	-	4	3240	c.531G>A	c.(529-531)tgG>tgA	p.W177*	ZNF75D_ENST00000370764.1_Intron|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	177					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGTATGTATTCCAATATTCTT	0.498													5	77					0	0	0	0	T	134426280	C	T	134426280	4	4	195	1	0	0	0	0	0	1	0	0	18228	856	30	2	1017	2	ZNF75D	23	134426280	Nonsense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	4014216	134426280	20844280	233	34636											
LDOC1	23641	broad.mit.edu	37	chrX	140270912	140270912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccacccactcctcggcttCcccggtgaggaggctgatta	7	8	10	16	2	0	2	0	2	0	0	3	3	2	3	5	4	0	2	5	4	1	2			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:140270912C>T	ENST00000370526.2	-	1	398	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	99					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					TCCTCGGCTTCCCCGGTGAGG	0.557													38	24					0	0	0	0	T	140270912	C	T	140270912	3	4	195	1	0	0	0	0	1	0	0	0	8762	864	30	2	149	2	LDOC1	23	140270912	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	5844632	140270912	14999648	234	34637											
CXorf40B	541578	broad.mit.edu	37	chrX	149101932	149101932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctccaccagcagctccCgacaggcatcgccttcccag	7	7	8	19	2	1	0	0	0	1	0	6	1	4	0	5	1	2	3	5	1	0	1			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:149101932C>T	ENST00000370406.3	-	4	989	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	CXorf40B_ENST00000462691.1_Missense_Mutation_p.R54Q|CXorf40B_ENST00000370404.1_Missense_Mutation_p.R54Q|CXorf40B_ENST00000355203.2_Missense_Mutation_p.R54Q			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	54										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGCTCCCGACAGGCATC	0.587													45	24					0	0	0	0	T	149101932	C	T	149101932	3	4	195	1	0	0	0	0	1	0	0	0	4141	652	23	1	323	1	CXorf40B	23	149101932	Missense_Mutation	SNP	C	TCGA-CR-7368-01A-11D-2129-08	8831020	149101932	6168628	235	34638											
CASZ1	54897	broad.mit.edu	37	chr1	10715709	10715710	+	Frame_Shift_Ins	INS	-	-	A																															cgggtgcgggaggcacctgcINSatgcagtgatagtgggtgct																										TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:10715709_10715710insA	ENST00000377022.3	-	9	1978_1979	c.1661_1662insT	c.(1660-1662)acafs	p.T554fs	CASZ1_ENST00000344008.5_Frame_Shift_Ins_p.T554fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GAGGCACCTGCATGCAGTGATA	0.678													18	11	---	---	---	---					A	10715710	-	A	10715709	7	5	196	1	0	1	1	0	0	0	0	0	2710	710	25	0	3673	0	CASZ1	1	10715709	Frame_Shift_Ins	INS	-	TCGA-CR-7369-01A-11D-2129-08		10715709	238534912	1	34639											
CASZ1	54897	broad.mit.edu	37	chr1	10720212	10720212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatctggacactgctgtgcGacggcaggggcaggatggtg	7	7	18	9	2	1	0	0	0	1	0	1	3	1	2	0	6	2	4	0	6	0	0			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:10720212G>A	ENST00000377022.3	-	6	1204	c.887C>T	c.(886-888)tCg>tTg	p.S296L	CASZ1_ENST00000344008.5_Missense_Mutation_p.S296L	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACTGCTGTGCGACGGCAGGGG	0.657													85	68					0	0	0	0	A	10720212	G	A	10720212	3	1	196	1	0	0	0	0	1	0	0	0	2710	1059	37	1	4460	1	CASZ1	1	10720212	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	4503	10720212	238530409	2	34640											
PRDM2	7799	broad.mit.edu	37	chr1	14075948	14075948	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggaagagcgagccagcgcCcggagcaagcggagctcccc	10	1	16	14	4	0	1	0	0	0	1	1	6	1	4	4	3	6	2	4	3	2	0			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:14075948C>A	ENST00000235372.7	+	6	1333	c.477C>A	c.(475-477)gcC>gcA	p.A159A	PRDM2_ENST00000505823.1_5'UTR|PRDM2_ENST00000311066.5_Silent_p.A159A|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000376048.5_Silent_p.A159A|PRDM2_ENST00000413440.1_5'UTR|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000343137.4_5'UTR	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	159						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAGCCAGCGCCCGGAGCAAGC	0.731													8	13					2.17888e-05	2.26603e-05	1	0	A	14075948	C	A	14075948	2	1	196	1	0	0	0	0	0	0	0	1	12538	610	22	4		4	PRDM2	1	14075948	Silent	SNP	C	TCGA-CR-7369-01A-11D-2129-08	3355736	14075948	235174673	3	34641											
RNF19B	127544	broad.mit.edu	37	chr1	33402524	33402524	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctgggggtcgaggggcaGgctgcagtatgggagcgggg	5	6	23	7	2	1	0	0	0	1	0	2	2	1	1	0	8	2	5	0	8	1	1			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:33402524G>A	ENST00000373456.7	-	9	2081	c.2082C>T	c.(2080-2082)gcC>gcT	p.A694A	RNF19B_ENST00000235150.4_Silent_p.A693A|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	694						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCGAGGGGCAGGCTGCAGTAT	0.587													41	117					0	0	0	0	A	33402524	G	A	33402524	2	1	196	1	0	0	0	0	0	0	0	1	13556	987	35	4		4	RNF19B	1	33402524	Silent	SNP	G	TCGA-CR-7369-01A-11D-2129-08	19326576	33402524	215848097	4	34642											
GBP3	2635	broad.mit.edu	37	chr1	89481070	89481070	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagattcctttggtgtgaGatttcactgtggagcccaga	8	13	11	9	0	1	3	1	1	0	3	3	5	3	4	3	2	1	0	3	2	0	3			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:89481070G>C	ENST00000370481.4	-	3	438	c.218C>G	c.(217-219)tCt>tGt	p.S73C	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	73						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTTGGTGTGAGATTTCACTGT	0.483													33	98					0	0	0	0	C	89481070	G	C	89481070	3	2	196	1	0	0	0	0	1	0	0	0	6324	942	33	2	1605	2	GBP3	1	89481070	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	56078546	89481070	159769551	5	34643											
BTBD8	284697	broad.mit.edu	37	chr1	92604948	92604948	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttatgatgcattttatatAtggaggaactctggacattc	11	16	9	5	0	1	1	0	1	1	0	2	4	1	4	0	3	2	2	0	3	5	6			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:92604948A>G	ENST00000370382.3	+	6	1061	c.794A>G	c.(793-795)tAt>tGt	p.Y265C	BTBD8_ENST00000342818.3_Missense_Mutation_p.Y265C|BTBD8_ENST00000540648.1_Missense_Mutation_p.Y265C			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	265	BTB 2.					nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CATTTTATATATGGAGGAACT	0.294													22	97					0	0	0	0	G	92604948	A	G	92604948	3	3	196	1	0	0	0	0	1	0	0	0	1556	449	16	5	816	5	BTBD8	1	92604948	Missense_Mutation	SNP	A	TCGA-CR-7369-01A-11D-2129-08	3123878	92604948	156645673	6	34644											
FNDC7	163479	broad.mit.edu	37	chr1	109270438	109270438	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctttcagctccctgtTgtcctagtgacattaacccc	6	14	6	15	0	1	1	1	1	0	0	4	1	4	1	5	0	3	3	5	0	2	4			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:109270438T>C	ENST00000370017.3	+	7	1397	c.1120T>C	c.(1120-1122)Tgt>Cgt	p.C374R	FNDC7_ENST00000271311.2_Missense_Mutation_p.C375R	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	375						extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		AGCTCCCTGTTGTCCTAGTGA	0.547													44	131					0	0	0	0	C	109270438	T	C	109270438	3	2	196	1	0	0	0	0	1	0	0	0	6018	1812	63	5	1146	5	FNDC7	1	109270438	Missense_Mutation	SNP	T	TCGA-CR-7369-01A-11D-2129-08	16665490	109270438	139980183	7	34645											
PDE4DIP	9659	broad.mit.edu	37	chr1	144923767	144923767	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatacagactgctgagttaTagtggtctcatgtgaattca	12	13	10	6	0	2	4	2	2	1	2	3	4	2	4	0	1	2	2	0	1	4	4			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:144923767T>C	ENST00000529945.1	-	2	1619	c.1180A>G	c.(1180-1182)Ata>Gta	p.I394V	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I368V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.I368V|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.I231V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I231V|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.I231V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I297V|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.I231V|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.I18V|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.I394V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	231					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTGAGTTATAGTGGTCTCA	0.448			T	PDGFRB	MPD								32	221					0	0	0	0	C	144923767	T	C	144923767	3	2	196	1	0	0	0	0	1	0	0	0	11714	1406	49	5	6515	5	PDE4DIP	1	144923767	Missense_Mutation	SNP	T	TCGA-CR-7369-01A-11D-2129-08	35653329	144923767	104326854	8	34646											
UBE2Q1	55585	broad.mit.edu	37	chr1	154524644	154524644	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagatcgttgtgcaaagcGctgtcctggtcaactctaag	9	11	12	9	2	2	1	1	0	1	1	4	2	3	1	1	2	3	3	1	2	3	2			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:154524644G>A	ENST00000292211.4	-	8	970	c.891C>T	c.(889-891)agC>agT	p.S297S		NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	297							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGTGCAAAGCGCTGTCCTGGT	0.493													18	98					0	0	0	0	A	154524644	G	A	154524644	2	1	196	1	0	0	0	0	0	0	0	1	16965	1078	38	1		1	UBE2Q1	1	154524644	Silent	SNP	G	TCGA-CR-7369-01A-11D-2129-08	9600877	154524644	94725977	9	34647											
PLA2G4A	5321	broad.mit.edu	37	chr1	186946794	186946794	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagattgatccttatgtgTttgatcgggaagggctgaag	11	12	13	5	1	0	4	0	3	0	1	2	5	1	5	1	2	0	2	1	2	4	3			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:186946794T>A	ENST00000367466.3	+	16	1986	c.1834T>A	c.(1834-1836)Ttt>Att	p.F612I	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F552I	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	612	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TCCTTATGTGTTTGATCGGGA	0.418													23	77					0	0	0	0	A	186946794	T	A	186946794	3	1	196	1	0	0	0	0	1	0	0	0	12073	1725	60	5	1892	5	PLA2G4A	1	186946794	Missense_Mutation	SNP	T	TCGA-CR-7369-01A-11D-2129-08	32422150	186946794	62303827	10	34648											
ASPM	259266	broad.mit.edu	37	chr1	197091601	197091601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataccactgaaccagtttgcGtacattccacagtttgagta	12	12	7	10	1	0	2	0	2	0	0	1	2	1	2	3	0	4	4	3	0	4	6			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:197091601G>A	ENST00000367409.4	-	14	3771	c.3515C>T	c.(3514-3516)aCg>aTg	p.T1172M	ASPM_ENST00000367408.1_Missense_Mutation_p.T422M|ASPM_ENST00000294732.7_Missense_Mutation_p.T1172M	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1172	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding	p.T1172M(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCAGTTTGCGTACATTCCAC	0.413													9	38					0	0	0	0	A	197091601	G	A	197091601	3	1	196	1	0	0	0	0	1	0	0	0	1060	1145	40	1	6978	1	ASPM	1	197091601	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	10144807	197091601	52159020	11	34649											
GREM2	64388	broad.mit.edu	37	chr1	240656691	240656691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtaaggcgaggggatggCgcccgccggccggttcttcc	4	8	16	13	5	1	0	0	0	1	0	2	2	2	1	4	6	0	2	4	6	1	4			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:240656691C>T	ENST00000318160.4	-	2	351	c.85G>A	c.(85-87)Gcc>Acc	p.A29T		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	29					BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GAGGGGATGGCGCCCGCCGGC	0.622													10	17					0	0	0	0	T	240656691	C	T	240656691	3	4	196	1	0	0	0	0	1	0	0	0	6812	768	27	1	425	1	GREM2	1	240656691	Missense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08	43565090	240656691	8593930	12	34650											
HNRNPU	3192	broad.mit.edu	37	chr1	245021401	245021401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaagtatactcttcaggtAttggaaaatatggcttttcc	12	15	8	6	0	2	1	1	1	1	0	3	2	3	2	1	3	1	3	1	3	7	8			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:245021401A>G	ENST00000444376.2	-	7	1583	c.1349T>C	c.(1348-1350)aTa>aCa	p.I450T	HNRNPU_ENST00000283179.9_Missense_Mutation_p.I469T	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	469	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CTCTTCAGGTATTGGAAAATA	0.438													13	49					0	0	0	0	G	245021401	A	G	245021401	3	3	196	1	0	0	0	0	1	0	0	0	7323	449	16	5	1103	5	HNRNPU	1	245021401	Missense_Mutation	SNP	A	TCGA-CR-7369-01A-11D-2129-08	4364710	245021401	4229220	13	34651											
BRE	9577	broad.mit.edu	37	chr2	28210901	28210901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatacccagaactgcctcccGattttatctttggagaagat	12	12	7	10	1	1	3	0	0	1	3	2	5	2	3	3	1	3	0	3	1	5	4			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:28210901G>A	ENST00000344773.2	+	4	385	c.247G>A	c.(247-249)Gat>Aat	p.D83N	BRE_ENST00000603461.1_3'UTR|BRE_ENST00000379624.1_Missense_Mutation_p.D83N|BRE_ENST00000379632.2_Missense_Mutation_p.D83N|BRE_ENST00000361704.2_Missense_Mutation_p.D83N|BRE_ENST00000342045.2_Missense_Mutation_p.D83N	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	83	UEV-like 1.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					ACTGCCTCCCGATTTTATCTT	0.398													94	326					0	0	0	0	A	28210901	G	A	28210901	3	1	196	1	0	0	0	0	1	0	0	0	1517	1058	37	1	257	1	BRE	2	28210901	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08		28210901	214988472	14	34652											
RAB1A	5861	broad.mit.edu	37	chr2	65318142	65318142	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtcacatcatacacaactAtgatgccatgggctcctctg	10	11	7	13	0	3	1	2	1	1	0	4	1	4	1	2	1	3	1	2	1	3	2			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:65318142A>G	ENST00000409784.3	-	4	453	c.263T>C	c.(262-264)aTa>aCa	p.I88T	RAB1A_ENST00000409892.1_Intron|RAB1A_ENST00000409751.1_Missense_Mutation_p.I56T|RAB1A_ENST00000398529.3_Intron|RAB1A_ENST00000356214.7_Intron|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000260638.8_Intron	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN	RAB1A, member RAS oncogene family	88					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	GTP binding|GTPase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						ATACACAACTATGATGCCATG	0.398													4	26					0	0	0	0	G	65318142	A	G	65318142	3	3	196	1	0	0	0	0	1	0	0	0	12987	449	16	5	366	5	RAB1A	2	65318142	Missense_Mutation	SNP	A	TCGA-CR-7369-01A-11D-2129-08	37107241	65318142	177881231	15	34653											
ZNF638	27332	broad.mit.edu	37	chr2	71633384	71633384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accatgtattcataagtaatAgaaacaaggtaacaagttcc	18	10	6	7	0	1	1	1	0	0	1	2	1	2	1	2	1	2	4	2	1	8	7			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:71633384A>G	ENST00000409544.1	+	19	3757	c.3127A>G	c.(3127-3129)Aga>Gga	p.R1043G	ZNF638_ENST00000355812.3_Missense_Mutation_p.R1043G|ZNF638_ENST00000264447.4_Missense_Mutation_p.R1043G	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1043					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CATAAGTAATAGAAACAAGGT	0.343													14	40					0	0	0	0	G	71633384	A	G	71633384	3	3	196	1	0	0	0	0	1	0	0	0	18150	412	15	5	3197	5	ZNF638	2	71633384	Missense_Mutation	SNP	A	TCGA-CR-7369-01A-11D-2129-08	6315242	71633384	171565989	16	34654											
REG3A	5068	broad.mit.edu	37	chr2	79385538	79385538	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacacgaaggatccctcagCcccactgagcacagacacca	13	3	9	16	1	1	2	1	1	0	1	2	5	2	4	4	2	2	1	4	2	1	0			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:79385538C>G	ENST00000393878.1	-	3	501	c.247G>C	c.(247-249)Gct>Cct	p.A83P	REG3A_ENST00000409839.3_Missense_Mutation_p.A83P|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.A83P	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	83	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GATCCCTCAGCCCCACTGAGC	0.572													12	67					0	0	0	0	G	79385538	C	G	79385538	3	3	196	1	0	0	0	0	1	0	0	0	13294	739	26	4	292	4	REG3A	2	79385538	Missense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08	7752154	79385538	163813835	17	34655											
FAHD2A	51011	broad.mit.edu	37	chr2	96072879	96072879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcgtggggccctatgatGaggtggtcctcccaccacag	7	8	12	14	1	0	2	0	2	0	0	3	2	2	2	5	4	0	0	5	4	1	1			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:96072879G>A	ENST00000233379.4	+	3	589	c.436G>A	c.(436-438)Gag>Aag	p.E146K	FAHD2A_ENST00000447036.1_Missense_Mutation_p.E146K	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	146							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						GCCCTATGATGAGGTGGTCCT	0.562													18	88					0	0	0	0	A	96072879	G	A	96072879	3	1	196	1	0	0	0	0	1	0	0	0	5414	1291	45	2	442	2	FAHD2A	2	96072879	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	16687341	96072879	147126494	18	34656											
CSRNP3	80034	broad.mit.edu	37	chr2	166533063	166533063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggactgtggctgtgactgccGagtgttctgtgatccagaca	7	11	14	9	1	1	3	0	2	1	1	2	5	2	4	2	2	1	2	2	2	0	1			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:166533063G>A	ENST00000314499.7	+	6	1026	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	CSRNP3_ENST00000342316.4_Missense_Mutation_p.R217Q|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R249Q	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	217	Cys-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGTGACTGCCGAGTGTTCTGT	0.542													21	50					0	0	0	0	A	166533063	G	A	166533063	3	1	196	1	0	0	0	0	1	0	0	0	3997	1058	37	1	660	1	CSRNP3	2	166533063	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	70460184	166533063	76666310	19	34657											
DHX30	22907	broad.mit.edu	37	chr3	47889378	47889378	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctgagacttccatcacaAtcaatgacatcgtgcatgtg	11	12	8	10	1	2	2	2	2	0	1	4	3	3	2	1	0	2	2	1	0	2	2			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:47889378A>G	ENST00000446256.2	+	15	2673	c.2101A>G	c.(2101-2103)Atc>Gtc	p.I701V	DHX30_ENST00000348968.4_Missense_Mutation_p.I712V|DHX30_ENST00000457607.1_Missense_Mutation_p.I768V|DHX30_ENST00000445061.1_Missense_Mutation_p.I740V	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	740	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTCCATCACAATCAATGACAT	0.547													23	39					0	0	0	0	G	47889378	A	G	47889378	3	3	196	1	0	0	0	0	1	0	0	0	4541	101	4	5	2275	5	DHX30	3	47889378	Missense_Mutation	SNP	A	TCGA-CR-7369-01A-11D-2129-08		47889378	150133052	20	34658											
ROBO1	6091	broad.mit.edu	37	chr3	78987994	78987994	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagctttgcagttcaaagTtgcaggttctccttttgaga	8	16	9	8	0	3	1	2	1	1	1	4	2	3	1	1	1	3	6	1	1	1	7			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:78987994T>G	ENST00000436010.2	-	2	1136	c.139A>C	c.(139-141)Act>Cct	p.T47P	ROBO1_ENST00000495273.1_Missense_Mutation_p.T47P|ROBO1_ENST00000467549.1_Missense_Mutation_p.T47P|ROBO1_ENST00000464233.1_Missense_Mutation_p.T86P			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	86					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGTTCAAAGTTGCAGGTTCT	0.507													21	55					0	0	0	0	G	78987994	T	G	78987994	3	3	196	1	0	0	0	0	1	0	0	0	13598	1725	60	5	4824	5	ROBO1	3	78987994	Missense_Mutation	SNP	T	TCGA-CR-7369-01A-11D-2129-08	31098616	78987994	119034436	21	34659											
ZPLD1	131368	broad.mit.edu	37	chr3	102171893	102171893	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcatggggactcccactgCagagggttcatcaataacaa	13	7	11	10	0	2	1	2	0	0	1	3	2	3	2	1	4	2	3	1	4	3	2			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:102171893C>A	ENST00000306176.1	+	3	385	c.285C>A	c.(283-285)tgC>tgA	p.C95*	ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.C79*|ZPLD1_ENST00000491959.1_Nonsense_Mutation_p.C79*	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	79	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACTCCCACTGCAGAGGGTTCA	0.453													74	36					4.09166e-32	5.06586e-32	1	0	A	102171893	C	A	102171893	4	1	196	1	0	0	0	0	0	1	0	0	18314	718	25	4	295	4	ZPLD1	3	102171893	Nonsense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08	23183899	102171893	95850537	22	34660											
WDR5B	54554	broad.mit.edu	37	chr3	122133906	122133906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaaagtcttgagacactttCctgttttcacctcccatatt	10	15	4	12	0	2	1	1	1	1	1	4	2	4	1	3	0	0	1	3	0	2	6			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:122133906C>T	ENST00000330689.4	-	1	976	c.470G>A	c.(469-471)gGa>gAa	p.G157E		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	157										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GAGACACTTTCCTGTTTTCAC	0.403													22	81					0	0	0	0	T	122133906	C	T	122133906	3	4	196	1	0	0	0	0	1	0	0	0	17405	855	30	2	526	2	WDR5B	3	122133906	Missense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08	19962013	122133906	75888524	23	34661											
TRIM59	286827	broad.mit.edu	37	chr3	160156068	160156069	+	Frame_Shift_Del	DEL	TG	TG	-																															agaaattttcattttgggaaTgagaacgttcttaatttgtc																										TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:160156068_160156069delTG	ENST00000543469.1	-	2	1117_1118	c.903_904delCA	c.(901-906)ctttfs	p.LI301fs	TRIM59_ENST00000309784.4_Frame_Shift_Del_p.LI301fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Del_p.LI301fs			Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	301						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATTTTGGGAATGAGAACGTTCT	0.342													27	110	---	---	---	---					-	160156069	TG	-	160156068	7	5	196	1	0	1	0	1	0	0	0	0	16627	1464	51	0	311	0	TRIM59	3	160156068	Frame_Shift_Del	DEL	TG	TCGA-CR-7369-01A-11D-2129-08	38022162	160156068	37866362	24	34662											
AHSG	197	broad.mit.edu	37	chr3	186338468	186338468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccgtcccctccacttggcGcacctggactccctccagct	4	9	7	21	2	0	0	0	0	0	0	5	1	5	1	7	2	1	2	7	2	0	1			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:186338468G>A	ENST00000411641.2	+	7	1072	c.853G>A	c.(853-855)Gca>Aca	p.A285T	AHSG_ENST00000273784.5_Missense_Mutation_p.A286T			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	285					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.A285T(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TCCACTTGGCGCACCTGGACT	0.642													126	83					0	0	0	0	A	186338468	G	A	186338468	3	1	196	1	0	0	0	0	1	0	0	0	420	1087	38	1	879	1	AHSG	3	186338468	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	26182400	186338468	11683962	25	34663											
WHSC1	7468	broad.mit.edu	37	chr4	1902895	1902895	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaaggaacaggaagaggAgcataaaatatgactccttg	17	6	12	6	1	0	3	0	1	0	2	1	7	1	6	1	3	2	1	1	3	6	3			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:1902895A>T	ENST00000503128.1	+	2	721	c.514A>T	c.(514-516)Agc>Tgc	p.S172C	WHSC1_ENST00000436793.1_Missense_Mutation_p.S172C|WHSC1_ENST00000514045.1_Missense_Mutation_p.S172C|WHSC1_ENST00000382892.2_Missense_Mutation_p.S172C|WHSC1_ENST00000508803.1_Missense_Mutation_p.S172C|WHSC1_ENST00000382891.5_Missense_Mutation_p.S172C|WHSC1_ENST00000420906.2_Missense_Mutation_p.S172C|WHSC1_ENST00000382895.3_Missense_Mutation_p.S172C|WHSC1_ENST00000398261.1_Missense_Mutation_p.S172C			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	172					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CAGGAAGAGGAGCATAAAATA	0.438			T	IGH@	MM								12	22					0	0	0	0	T	1902895	A	T	1902895	3	4	196	1	0	0	0	0	1	0	0	0	17458	304	11	5	516	5	WHSC1	4	1902895	Missense_Mutation	SNP	A	TCGA-CR-7369-01A-11D-2129-08		1902895	189251381	26	34664											
SCARB2	950	broad.mit.edu	37	chr4	77091132	77091132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgggaaagacataatgatgGgtgcacctgcatttgaagga	13	9	14	5	0	0	3	0	2	0	1	0	5	0	5	1	3	2	2	1	3	3	2			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:77091132G>T	ENST00000264896.2	-	8	1350	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H	SCARB2_ENST00000452464.2_Missense_Mutation_p.P191H	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	334					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	p.P334H(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CATAATGATGGGTGCACCTGC	0.413													5	107					4.096e-09	4.58047e-09	1	0	T	77091132	G	T	77091132	3	4	196	1	0	0	0	0	1	0	0	0	13968	1232	43	4	455	4	SCARB2	4	77091132	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	75188237	77091132	114063144	27	34665											
ADH6	130	broad.mit.edu	37	chr4	100131636	100131636	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattctccacactgtggcaGaaagagtgtgataactttgt	12	12	9	8	0	1	3	0	1	1	2	2	3	1	3	1	1	1	1	1	1	2	3			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:100131636G>A	ENST00000394897.1	-	4	368	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000394899.2_Silent_p.L96L|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000237653.7_Silent_p.L96L|RP11-696N14.1_ENST00000506160.1_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	96					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CACTGTGGCAGAAAGAGTGTG	0.303													28	80					0	0	0	0	A	100131636	G	A	100131636	2	1	196	1	0	0	0	0	0	0	0	1	312	933	33	2		2	ADH6	4	100131636	Silent	SNP	G	TCGA-CR-7369-01A-11D-2129-08	23040504	100131636	91022640	28	34666											
LRBA	987	broad.mit.edu	37	chr4	151773953	151773953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgtatctggttgctgggatCctactgaaacattaatatcc	10	14	8	9	1	1	1	0	1	1	0	4	2	3	2	2	2	3	3	2	2	5	5			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:151773953C>A	ENST00000535741.1	-	23	3382	c.2909G>T	c.(2908-2910)gGa>gTa	p.G970V	LRBA_ENST00000507224.1_Missense_Mutation_p.G970V|LRBA_ENST00000357115.3_Missense_Mutation_p.G970V|LRBA_ENST00000510413.1_Missense_Mutation_p.G970V			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	970						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTGCTGGGATCCTACTGAAAC	0.403													12	41					7.03913e-09	7.70599e-09	1	0	A	151773953	C	A	151773953	3	1	196	1	0	0	0	0	1	0	0	0	8995	855	30	2	5826	2	LRBA	4	151773953	Missense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08	51642317	151773953	39380323	29	34667											
RAPGEF2	9693	broad.mit.edu	37	chr4	160266481	160266481	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagccagcaaccaacacaTgtgagtttttccttaaagtg	12	11	9	9	0	0	2	0	2	0	0	1	2	1	2	3	0	4	2	3	0	4	3			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:160266481T>G	ENST00000264431.4	+	18	3438	c.3019_splice	c.e18+1	p.L1007_splice		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1007					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AACCAACACATGTGAGTTTTT	0.463													11	56					0	0	0	0	G	160266481	T	G	160266481	5	3	196	1	0	0	0	0	0	0	1	0	13126	1478	51	5	3089	5	RAPGEF2	4	160266481	Splice_Site	SNP	T	TCGA-CR-7369-01A-11D-2129-08	8492528	160266481	30887795	30	34668											
GLRA3	8001	broad.mit.edu	37	chr4	175598318	175598318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taccctggccggtgctgcatCcatgttgatccagaatgaaa	10	10	10	11	1	0	3	0	2	0	1	2	3	2	3	4	2	3	3	4	2	3	2			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:175598318C>T	ENST00000274093.3	-	7	1340	c.838G>A	c.(838-840)Gat>Aat	p.D280N	GLRA3_ENST00000340217.5_Missense_Mutation_p.D280N	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	280					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GGTGCTGCATCCATGTTGATC	0.473													20	38					0	0	0	0	T	175598318	C	T	175598318	3	4	196	1	0	0	0	0	1	0	0	0	6507	855	30	2	572	2	GLRA3	4	175598318	Missense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08	15331837	175598318	15555958	31	34669											
NIPBL	25836	broad.mit.edu	37	chr5	37008756	37008756	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgaaaaacataggcagtTaattttggaagaaattttta	18	14	7	2	0	0	2	0	1	0	1	0	3	0	3	0	2	1	2	0	2	8	8			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr5:37008756T>G	ENST00000282516.8	+	20	4851	c.4352T>G	c.(4351-4353)tTa>tGa	p.L1451*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.L1451*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1451					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CATAGGCAGTTAATTTTGGAA	0.279													24	116					0	0	0	0	G	37008756	T	G	37008756	4	3	196	1	0	0	0	0	0	1	0	0	10498	1764	61	5	4426	5	NIPBL	5	37008756	Nonsense_Mutation	SNP	T	TCGA-CR-7369-01A-11D-2129-08		37008756	143906504	32	34670											
YTHDC2	64848	broad.mit.edu	37	chr5	112868639	112868639	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgccgtatattttgtactCaaccaagacgattggcagct	10	12	8	11	2	1	1	1	0	0	1	1	2	1	1	3	1	4	4	3	1	5	6			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr5:112868639C>T	ENST00000161863.4	+	5	952	c.739C>T	c.(739-741)Caa>Taa	p.Q247*	YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q247*	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	247	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ATTTTGTACTCAACCAAGACG	0.398													4	74					0	0	0	0	T	112868639	C	T	112868639	4	4	196	1	0	0	0	0	0	1	0	0	17593	827	29	2	757	2	YTHDC2	5	112868639	Nonsense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08	75859883	112868639	68046621	33	34671											
CEP120	153241	broad.mit.edu	37	chr5	122729184	122729184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagtttcatggtacatGgaattaactaaacatttcag	14	13	8	6	0	2	0	2	0	0	0	2	2	2	2	0	3	3	2	0	3	6	5			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr5:122729184G>T	ENST00000306467.5	-	6	924	c.620C>A	c.(619-621)cCa>cAa	p.P207Q	CEP120_ENST00000306481.6_Missense_Mutation_p.P181Q|CEP120_ENST00000328236.5_Missense_Mutation_p.P207Q|CEP120_ENST00000395431.2_Missense_Mutation_p.P207Q			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	207						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CATGGTACATGGAATTAACTA	0.303													20	31					3.6726e-16	4.39024e-16	1	0	T	122729184	G	T	122729184	3	4	196	1	0	0	0	0	1	0	0	0	3275	1348	47	4	2400	4	CEP120	5	122729184	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	9860545	122729184	58186076	34	34672											
DUSP22	56940	broad.mit.edu	37	chr6	348127	348127	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccggggtctccaggagcgtGacactggtgatcgcatacat	8	8	14	11	3	1	2	0	2	1	0	3	3	1	3	2	4	2	1	2	4	1	1			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:348127G>A	ENST00000419235.2	+	6	366	c.288G>A	c.(286-288)gtG>gtA	p.V96V	DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.V96V|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	96	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CCAGGAGCGTGACACTGGTGA	0.612													50	280					0	0	0	0	A	348127	G	A	348127	2	1	196	1	0	0	0	0	0	0	0	1	4857	1277	45	2		2	DUSP22	6	348127	Silent	SNP	G	TCGA-CR-7369-01A-11D-2129-08		348127	170766940	35	34673											
TFAP2A	7020	broad.mit.edu	37	chr6	10415240	10415240	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcatggatcggcgtgaacgGatatgcccctctcggtctcg	6	11	12	12	5	3	1	1	1	2	0	6	3	3	3	2	4	2	0	2	4	2	2			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:10415240G>C	ENST00000379613.3	-	0	241				RP1-290I10.6_ENST00000443546.1_RNA|TFAP2A_ENST00000319516.4_Intron|TFAP2A_ENST00000482890.1_De_novo_Start_InFrame|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000379604.2_De_novo_Start_InFrame			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)						ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GGCGTGAACGGATATGCCCCT	0.592											OREG0017182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	66					0	0	0	0	C	10415240	G	C	10415240	1	2	196	1	0	0	0	0	0	0	0	0	15881	1189	41	2		2	TFAP2A	6	10415240	Translation_Start_Site	SNP	G	TCGA-CR-7369-01A-11D-2129-08	10067113	10415240	160699827	36	34674											
PPIL1	51645	broad.mit.edu	37	chr6	36824426	36824426	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagatagatgcaccaccTcgacctgcccgattggaaga	12	7	9	13	2	0	3	0	0	0	3	1	6	0	4	5	1	2	1	5	1	3	3			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:36824426T>C	ENST00000373699.5	-	3	467	c.216A>G	c.(214-216)cgA>cgG	p.R72R	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	72	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						ATGCACCACCTCGACCTGCCC	0.458													12	45					0	0	0	0	C	36824426	T	C	36824426	2	2	196	1	0	0	0	0	0	0	0	1	12402	1538	54	5		5	PPIL1	6	36824426	Silent	SNP	T	TCGA-CR-7369-01A-11D-2129-08	26409186	36824426	134290641	37	34675											
LRFN2	57497	broad.mit.edu	37	chr6	40360344	40360344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacacattgctcacggccgCtgccatcttgctgggggcct	5	10	12	14	2	2	0	1	0	1	0	2	0	2	0	3	3	4	4	3	3	1	3			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:40360344C>T	ENST00000338305.6	-	3	2250	c.1708G>A	c.(1708-1710)Gcg>Acg	p.A570T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	570						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCACGGCCGCTGCCATCTTG	0.677													7	41					0	0	0	0	T	40360344	C	T	40360344	3	4	196	1	0	0	0	0	1	0	0	0	9002	797	28	4	665	4	LRFN2	6	40360344	Missense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08	3535918	40360344	130754723	38	34676											
CUL9	23113	broad.mit.edu	37	chr6	43189000	43189000	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaagcacctggccaagctCatctccaagcgctgtcccag	10	6	9	16	1	2	0	1	0	1	0	4	0	3	0	4	1	4	4	4	1	3	0			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:43189000C>T	ENST00000252050.4	+	34	6777	c.6693C>T	c.(6691-6693)ctC>ctT	p.L2231L	CUL9_ENST00000354495.3_Silent_p.L2121L|CUL9_ENST00000372647.2_Silent_p.L2203L|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2231					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGGCCAAGCTCATCTCCAAGC	0.612													12	39					0	0	0	0	T	43189000	C	T	43189000	2	4	196	1	0	0	0	0	0	0	0	1	4093	813	29	2		2	CUL9	6	43189000	Silent	SNP	C	TCGA-CR-7369-01A-11D-2129-08	2828656	43189000	127926067	39	34677											
BEND6	221336	broad.mit.edu	37	chr6	56857219	56857219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttctgcctggtgaaagctCcagtgaggatgaagagcctt	9	11	12	9	0	1	4	0	3	1	1	2	5	2	5	3	2	3	1	3	2	2	2			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:56857219C>T	ENST00000370748.3	+	3	599	c.164C>T	c.(163-165)tCc>tTc	p.S55F	BEND6_ENST00000370745.1_Missense_Mutation_p.S55F|BEND6_ENST00000370746.3_Missense_Mutation_p.S55F|BEND6_ENST00000370750.2_Missense_Mutation_p.S55F			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	55										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GGTGAAAGCTCCAGTGAGGAT	0.403													55	209					0	0	0	0	T	56857219	C	T	56857219	3	4	196	1	0	0	0	0	1	0	0	0	1406	855	30	2	170	2	BEND6	6	56857219	Missense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08	13668219	56857219	114257848	40	34678											
FNDC1	84624	broad.mit.edu	37	chr6	159653481	159653481	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgacaacgacttggtggActcagacgaagatgagcgcg	13	6	14	8	4	1	4	1	2	0	2	1	8	1	5	0	2	2	0	0	2	3	1			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:159653481A>G	ENST00000297267.9	+	11	2137	c.1937A>G	c.(1936-1938)gAc>gGc	p.D646G	FNDC1_ENST00000340366.6_Missense_Mutation_p.D583G	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	646						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GACTTGGTGGACTCAGACGAA	0.697													9	50					0	0	0	0	G	159653481	A	G	159653481	3	3	196	1	0	0	0	0	1	0	0	0	6013	275	10	5	1979	5	FNDC1	6	159653481	Missense_Mutation	SNP	A	TCGA-CR-7369-01A-11D-2129-08	102796262	159653481	11461586	41	34679											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067095	18067095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggcagagattggggacCggctcttatccttcttatcc	6	13	11	11	1	2	1	0	0	2	1	4	3	4	2	3	4	0	3	3	4	2	5			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr7:18067095C>A	ENST00000506618.2	-	1	391	c.311G>T	c.(310-312)cGg>cTg	p.R104L		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	104					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GATTGGGGACCGGCTCTTATC	0.468													36	110					6.90743e-12	7.98191e-12	1	0	A	18067095	C	A	18067095	3	1	196	1	0	0	0	0	1	0	0	0	12659	652	23	3	649	3	PRPS1L1	7	18067095	Missense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08		18067095	141071568	42	34680											
LAMB4	22798	broad.mit.edu	37	chr7	107732207	107732207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcggcattcacactgcccaTtcttgggtgagcacctgagg	7	9	13	12	1	2	2	1	2	1	0	2	2	2	2	2	4	2	2	2	4	0	3			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr7:107732207T>C	ENST00000388781.3	-	14	1648	c.1565A>G	c.(1564-1566)aAt>aGt	p.N522S	LAMB4_ENST00000414450.2_Missense_Mutation_p.N522S|LAMB4_ENST00000388780.3_Missense_Mutation_p.N522S|LAMB4_ENST00000205386.4_Missense_Mutation_p.N522S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	522	Laminin EGF-like 5; truncated.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACACTGCCCATTCTTGGGTGA	0.502													18	69					0	0	0	0	C	107732207	T	C	107732207	3	2	196	1	0	0	0	0	1	0	0	0	8666	1493	52	5	3804	5	LAMB4	7	107732207	Missense_Mutation	SNP	T	TCGA-CR-7369-01A-11D-2129-08	89665112	107732207	51406456	43	34681											
CPA5	93979	broad.mit.edu	37	chr7	130002807	130002807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catagagctcgtcacaaaccCtgatgggtttgcttttaccc	9	12	8	12	1	1	2	1	1	0	1	2	2	1	2	2	1	4	3	2	1	3	4			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr7:130002807C>T	ENST00000485477.1	+	8	1848	c.719C>T	c.(718-720)cCt>cTt	p.P240L	CPA5_ENST00000474905.1_Missense_Mutation_p.P240L|CPA5_ENST00000466363.2_Missense_Mutation_p.P240L|CPA5_ENST00000461828.1_Missense_Mutation_p.P240L|CPA5_ENST00000431780.2_Missense_Mutation_p.P240L|CPA5_ENST00000393213.3_Missense_Mutation_p.P240L|CPA5_ENST00000355388.3_Missense_Mutation_p.P240L			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	240					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GTCACAAACCCTGATGGGTTT	0.502													3	41					0	0	0	0	T	130002807	C	T	130002807	3	4	196	1	0	0	0	0	1	0	0	0	3823	681	24	4	745	4	CPA5	7	130002807	Missense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08	22270600	130002807	29135856	44	34682											
PLXNA4	91584	broad.mit.edu	37	chr7	132070014	132070014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgggatcggggtcccGtctgtagctcaagggtaggg	5	10	17	9	2	3	0	1	0	2	0	5	1	4	1	1	5	1	3	1	5	3	2			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr7:132070014G>A	ENST00000423507.2	-	4	1546	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000321063.4_Intron	NM_001105543.1	NP_001099013.1	Q9HCM2	PLXA4_HUMAN	plexin A4	1019	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCGGGGTCCCGTCTGTAGCTC	0.493													3	36					0	0	0	0	A	132070014	G	A	132070014	3	1	196	1	0	0	0	0	1	0	0	0	12194	1145	40	1	4500	1	PLXNA4	7	132070014	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	2067207	132070014	27068649	45	34683											
PXDNL	137902	broad.mit.edu	37	chr8	52336282	52336282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaccactctcagtaatctGcacaccttcctagggagcaa	11	11	6	13	0	2	0	1	0	2	0	4	1	3	1	3	1	3	3	3	1	4	5			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:52336282G>T	ENST00000356297.4	-	14	1748	c.1648C>A	c.(1648-1650)Cag>Aag	p.Q550K	PXDNL_ENST00000543296.1_Missense_Mutation_p.Q550K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	550	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCAGTAATCTGCACACCTTCC	0.418													12	43					7.03913e-09	7.70599e-09	1	0	T	52336282	G	T	52336282	3	4	196	1	0	0	0	0	1	0	0	0	12930	1328	46	4	2783	4	PXDNL	8	52336282	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08		52336282	94027740	46	34684											
ST18	9705	broad.mit.edu	37	chr8	53044649	53044649	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggattctccttctgtctCttggcagccagaggacagcc	8	10	11	12	0	3	2	0	0	3	2	5	4	3	4	3	3	2	1	3	3	0	3			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:53044649C>G	ENST00000276480.7	-	22	3218	c.2535G>C	c.(2533-2535)aaG>aaC	p.K845N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	845						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCTTCTGTCTCTTGGCAGCCA	0.522													14	60					0	0	0	0	G	53044649	C	G	53044649	3	3	196	1	0	0	0	0	1	0	0	0	15302	912	32	2	628	2	ST18	8	53044649	Missense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08	708367	53044649	93319373	47	34685											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886149	88886149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtcccactctgactgtCtttttctgcttgtctgcttc	3	19	7	12	0	4	2	0	2	4	0	6	2	5	2	1	0	2	2	1	0	0	5			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:88886149C>A	ENST00000319675.3	-	1	147	c.51G>T	c.(49-51)aaG>aaT	p.K17N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	17										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTCTGACTGTCTTTTTCTGCT	0.537													18	52					3.5997e-14	4.20639e-14	1	0	A	88886149	C	A	88886149	3	1	196	1	0	0	0	0	1	0	0	0	4305	912	32	2	1140	2	DCAF4L2	8	88886149	Missense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08	35841500	88886149	57477873	48	34686											
UBR5	51366	broad.mit.edu	37	chr8	103354705	103354705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttttccaaataccttaTcaggccaccactgcaaatct	13	13	3	12	0	2	0	1	0	1	0	3	0	3	0	4	1	2	1	4	1	5	5			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:103354705T>C	ENST00000520539.1	-	9	1700	c.1094A>G	c.(1093-1095)gAt>gGt	p.D365G	UBR5_ENST00000521922.1_Missense_Mutation_p.D359G|UBR5_ENST00000220959.4_Missense_Mutation_p.D365G	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	365					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AAATACCTTATCAGGCCACCA	0.408													81	88					0	0	0	0	C	103354705	T	C	103354705	3	2	196	1	0	0	0	0	1	0	0	0	17001	1435	50	5	7509	5	UBR5	8	103354705	Missense_Mutation	SNP	T	TCGA-CR-7369-01A-11D-2129-08	14468556	103354705	43009317	49	34687											
PLEC	5339	broad.mit.edu	37	chr8	145008578	145008579	+	Frame_Shift_Ins	INS	-	-	G																															catccagcgggtggtagccaINSgggggcaccttgagctggcc																										TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:145008578_145008579insG	ENST00000322810.4	-	11	1656_1657	c.1487_1488insC	c.(1486-1488)cggfs	p.R496fs	PLEC_ENST00000354958.2_Frame_Shift_Ins_p.R337fs|PLEC_ENST00000398774.2_Frame_Shift_Ins_p.R327fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.R345fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.R363fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.R359fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.R359fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.R382fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.R386fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	496	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTGGTAGCCAGGGGGCACCTT	0.673													35	73	---	---	---	---					G	145008579	-	G	145008578	7	5	196	1	0	1	1	0	0	0	0	0	12124	175	7	0	12654	0	PLEC	8	145008578	Frame_Shift_Ins	INS	-	TCGA-CR-7369-01A-11D-2129-08	41653873	145008578	1355444	50	34688											
GLIS3	169792	broad.mit.edu	37	chr9	4117907	4117907	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcgctggtcgatgtggAccttctcgatgtgccgcacg	4	12	13	12	5	1	0	0	0	1	0	3	3	1	1	2	2	2	2	2	2	0	2			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr9:4117907A>G	ENST00000324333.10	-	3	1299	c.1106T>C	c.(1105-1107)gTc>gCc	p.V369A	GLIS3_ENST00000381971.3_Missense_Mutation_p.V524A	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	369					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTCGATGTGGACCTTCTCGAT	0.612													11	73					0	0	0	0	G	4117907	A	G	4117907	3	3	196	1	0	0	0	0	1	0	0	0	6498	275	10	5	1253	5	GLIS3	9	4117907	Missense_Mutation	SNP	A	TCGA-CR-7369-01A-11D-2129-08		4117907	137095524	51	34689											
PLIN2	123	broad.mit.edu	37	chr9	19126190	19126190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtcttcacaccgttctctgCcatctcacacacagacttca	9	11	5	16	1	5	1	3	0	3	1	7	1	5	1	2	1	1	1	2	1	0	3			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr9:19126190C>A	ENST00000276914.2	-	3	327	c.148G>T	c.(148-150)Gca>Tca	p.A50S	PLIN2_ENST00000380464.3_Missense_Mutation_p.A50S|PLIN2_ENST00000411567.1_Missense_Mutation_p.A50S|PLIN2_ENST00000380465.3_Missense_Mutation_p.A50S	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	50					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CCGTTCTCTGCCATCTCACAC	0.517													39	82					1.59361e-14	1.88336e-14	1	0	A	19126190	C	A	19126190	3	1	196	1	0	0	0	0	1	0	0	0	12162	739	26	4	1189	4	PLIN2	9	19126190	Missense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08	15008283	19126190	122087241	52	34690											
PCSK5	5125	broad.mit.edu	37	chr9	78911648	78911648	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgggagaatgtgagtcCtgccaccgagcatgcgaaac	13	6	13	9	2	0	2	0	1	0	1	1	6	1	2	3	1	4	1	3	1	3	0			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr9:78911648C>A	ENST00000545128.1	+	27	3928	c.3390C>A	c.(3388-3390)tcC>tcA	p.S1130S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	837					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AATGTGAGTCCTGCCACCGAG	0.552													14	36					4.3838e-07	4.74912e-07	1	0	A	78911648	C	A	78911648	2	1	196	1	0	0	0	0	0	0	0	1	11674	696	24	4		4	PCSK5	9	78911648	Silent	SNP	C	TCGA-CR-7369-01A-11D-2129-08	59785458	78911648	62301783	53	34691											
PTEN	5728	broad.mit.edu	37	chr10	89692794	89692794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatatccttttgaagaccAtaacccaccacagctagaac	16	8	4	13	0	0	3	0	1	0	2	1	3	1	3	4	0	3	1	4	0	6	5	rs121909238		TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr10:89692794A>G	ENST00000371953.3	+	5	1635	c.278A>G	c.(277-279)cAt>cGt	p.H93R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	93	Phosphatase tensin-type.		H -> R (in MCEPHAS).|H -> Y (in CD).		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 cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|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|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain 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.?(5)|p.R55fs*1(5)|p.H93R(3)|p.Y27fs*1(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(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)		TTTGAAGACCATAACCCACCA	0.338		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)			21	63					0	0	0	0	G	89692794	A	G	89692794	3	3	196	1	0	0	0	0	1	0	0	0	12817	217	8	5	296	5	PTEN	10	89692794	Missense_Mutation	SNP	A	TCGA-CR-7369-01A-11D-2129-08		89692794	45841953	54	34692											
TH	7054	broad.mit.edu	37	chr11	2190937	2190937	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtggccctcggggagaaGagcaggtttagcacggcctt	7	9	16	9	2	0	2	0	0	0	2	1	3	0	2	2	6	2	3	2	6	2	4			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:2190937G>A	ENST00000381178.1	-	3	366	c.348C>T	c.(346-348)ctC>ctT	p.L116L	TH_ENST00000333684.5_Silent_p.L89L|TH_ENST00000381175.1_Silent_p.L112L|TH_ENST00000352909.3_Silent_p.L85L	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	116					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TCGGGGAGAAGAGCAGGTTTA	0.672													30	71					0	0	0	0	A	2190937	G	A	2190937	2	1	196	1	0	0	0	0	0	0	0	1	15932	929	33	2		2	TH	11	2190937	Silent	SNP	G	TCGA-CR-7369-01A-11D-2129-08		2190937	132815579	55	34693											
OR52B2	255725	broad.mit.edu	37	chr11	6191145	6191145	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccacaacaggccatgttaGcactgttgtatatctcagtg	10	11	8	12	0	1	0	1	0	1	0	2	0	1	0	3	1	2	4	3	1	4	4			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:6191145G>A	ENST00000530810.1	-	1	493	c.412C>T	c.(412-414)Cta>Tta	p.L138L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATGTTAGCACTGTTGTA	0.512													9	49					0	0	0	0	A	6191145	G	A	6191145	2	1	196	1	0	0	0	0	0	0	0	1	11182	962	34	4		4	OR52B2	11	6191145	Silent	SNP	G	TCGA-CR-7369-01A-11D-2129-08	4000208	6191145	128815371	56	34694											
ABCC8	6833	broad.mit.edu	37	chr11	17428479	17428479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggggtcagggtcagggCgctgtcggtccacttggcca	5	8	17	11	2	2	0	2	0	0	0	4	0	3	0	2	6	1	2	2	6	0	1			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:17428479C>T	ENST00000302539.4	-	25	3246	c.3121G>A	c.(3121-3123)Gcc>Acc	p.A1041T	ABCC8_ENST00000389817.3_Missense_Mutation_p.A1040T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1040	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGGTCAGGGCGCTGTCGGTC	0.652													6	87					0	0	0	0	T	17428479	C	T	17428479	3	4	196	1	0	0	0	0	1	0	0	0	58	768	27	1	1687	1	ABCC8	11	17428479	Missense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08	11237334	17428479	117578037	57	34695											
SLC5A12	159963	broad.mit.edu	37	chr11	26734241	26734241	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaactggtttgttgaatcGtagttgtaagtactaaagga	12	13	12	4	2	0	1	0	1	0	0	1	3	0	2	0	2	2	6	0	2	7	7			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:26734241G>A	ENST00000396005.3	-	2	661	c.352C>T	c.(352-354)Cga>Tga	p.R118*	SLC5A12_ENST00000280467.6_Nonsense_Mutation_p.R118*	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	118					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTGTTGAATCGTAGTTGTAAG	0.418													60	189					0	0	0	0	A	26734241	G	A	26734241	4	1	196	1	0	0	0	0	0	1	0	0	14752	1153	40	1	1560	1	SLC5A12	11	26734241	Nonsense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	9305762	26734241	108272275	58	34696											
TTC17	55761	broad.mit.edu	37	chr11	43418289	43418289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtgggtactgtataacatgGcttcattttactggagaatt	10	15	10	6	1	1	1	1	0	0	1	1	2	1	1	0	3	3	3	0	3	5	7			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:43418289G>T	ENST00000039989.4	+	6	708	c.694G>T	c.(694-696)Gct>Tct	p.A232S	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.A232S	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	232							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTATAACATGGCTTCATTTTA	0.388													15	66					0.000308642	0.000314694	1	0	T	43418289	G	T	43418289	3	4	196	1	0	0	0	0	1	0	0	0	16780	1203	42	4	716	4	TTC17	11	43418289	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	16684048	43418289	91588227	59	34697											
OR8D2	283160	broad.mit.edu	37	chr11	124189328	124189328	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcttgaaatacatgaatgTtatagacccaaaaaagatgc	17	9	9	6	0	0	4	0	2	0	2	0	4	0	4	1	1	2	2	1	1	8	4			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:124189328T>A	ENST00000357438.2	-	1	856	c.766A>T	c.(766-768)Aca>Tca	p.T256S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TACATGAATGTTATAGACCCA	0.438													37	81					0	0	0	0	A	124189328	T	A	124189328	3	1	196	1	0	0	0	0	1	0	0	0	11303	1725	60	5	172	5	OR8D2	11	124189328	Missense_Mutation	SNP	T	TCGA-CR-7369-01A-11D-2129-08	80771039	124189328	10817188	60	34698											
AVPR1A	552	broad.mit.edu	37	chr12	63544069	63544069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagacgaagtactgcggcGtgctcagcacgaagctcagc	12	5	13	11	4	2	2	2	0	0	2	2	4	2	2	0	1	6	4	0	1	4	1			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr12:63544069G>A	ENST00000299178.2	-	1	653	c.548C>T	c.(547-549)aCg>aTg	p.T183M		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	183					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GTACTGCGGCGTGCTCAGCAC	0.642													29	50					0	0	0	0	A	63544069	G	A	63544069	3	1	196	1	0	0	0	0	1	0	0	0	1235	1145	40	1	716	1	AVPR1A	12	63544069	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08		63544069	70307826	61	34699											
KDM2B	84678	broad.mit.edu	37	chr12	122018774	122018774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctgcatgtctttttcgtgGggggtgatcctctgcagatc	4	15	13	9	1	2	2	0	1	2	1	5	2	3	2	1	3	3	3	1	3	0	2			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr12:122018774G>A	ENST00000377071.4	-	1	115	c.43C>T	c.(43-45)Cca>Tca	p.P15S	RP13-941N14.1_ENST00000541574.1_lincRNA|KDM2B_ENST00000538046.2_Missense_Mutation_p.P15S|KDM2B_ENST00000536437.1_5'UTR	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	15					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTTTTTCGTGGGGGGTGATCC	0.483													32	135					0	0	0	0	A	122018774	G	A	122018774	3	1	196	1	0	0	0	0	1	0	0	0	8178	1232	43	4	4148	4	KDM2B	12	122018774	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	58474705	122018774	11833121	62	34700											
TPP2	7174	broad.mit.edu	37	chr13	103295686	103295686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctataagttttgttctcTtccagagaaaggaacactga	13	14	7	7	0	2	2	0	1	2	1	4	4	3	3	1	1	1	2	1	1	4	7			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr13:103295686T>C	ENST00000376052.3	+	17	2151	c.2135T>C	c.(2134-2136)cTt>cCt	p.L712P	TPP2_ENST00000376065.4_Missense_Mutation_p.L712P			P29144	TPP2_HUMAN	tripeptidyl peptidase II	712					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTTGTTCTCTTCCAGAGAAA	0.373													12	32					0	0	0	0	C	103295686	T	C	103295686	3	2	196	1	0	0	0	0	1	0	0	0	16507	1609	56	5	2201	5	TPP2	13	103295686	Missense_Mutation	SNP	T	TCGA-CR-7369-01A-11D-2129-08		103295686	11874192	63	34701											
POTEG	404785	broad.mit.edu	37	chr14	19553545	19553545	+	Frame_Shift_Del	DEL	G	G	-																															gggagcggcaagagcaacgtGggcacttctggagaccacga																										TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr14:19553545delG	ENST00000409832.3	+	1	181	c.129delG	c.(127-129)gtfs	p.V43fs		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	43										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGAGCAACGTGGGCACTTCTG	0.602													48	619	---	---	---	---					-	19553545	G	-	19553545	7	5	196	1	0	1	0	1	0	0	0	0	12338	1335	47	0	131	0	POTEG	14	19553545	Frame_Shift_Del	DEL	G	TCGA-CR-7369-01A-11D-2129-08		19553545	87795995	64	34702											
LRFN5	145581	broad.mit.edu	37	chr14	42360816	42360816	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatacaaggctgtagtgtAacgctgccccagtccgtgtc	10	9	10	12	2	0	0	0	0	0	0	2	0	1	0	3	1	3	4	3	1	5	3			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr14:42360816A>T	ENST00000298119.4	+	4	2938	c.1749A>T	c.(1747-1749)gtA>gtT	p.V583V	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	583						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCTGTAGTGTAACGCTGCCCC	0.453										HNSCC(30;0.082)			22	48					0	0	0	0	T	42360816	A	T	42360816	2	4	196	1	0	0	0	0	0	0	0	1	9005	349	13	5		5	LRFN5	14	42360816	Silent	SNP	A	TCGA-CR-7369-01A-11D-2129-08	22807271	42360816	64988724	65	34703											
PCNX	22990	broad.mit.edu	37	chr14	71500712	71500712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccagaagaccctctatctGaagtaaaagatccactgcct	14	9	6	12	0	2	4	0	1	2	3	4	4	4	4	4	0	1	1	4	0	5	2			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr14:71500712G>A	ENST00000304743.2	+	18	4179	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K	PCNX_ENST00000439984.3_Missense_Mutation_p.E1134K|PCNX_ENST00000238570.5_Missense_Mutation_p.E1245K	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1245						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCCTCTATCTGAAGTAAAAGA	0.308													35	87					0	0	0	0	A	71500712	G	A	71500712	3	1	196	1	0	0	0	0	1	0	0	0	11662	1291	45	2	3803	2	PCNX	14	71500712	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	29139896	71500712	35848828	66	34704											
RBBP6	5930	broad.mit.edu	37	chr16	24551988	24551988	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttcctctaaactcaactAtgataccgtcacctttgatg	11	15	4	11	1	3	2	2	2	1	0	4	2	4	2	3	0	3	0	3	0	5	6			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr16:24551988A>G	ENST00000319715.4	+	1	473	c.41A>G	c.(40-42)tAt>tGt	p.Y14C	RBBP6_ENST00000381039.3_Missense_Mutation_p.Y14C|RBBP6_ENST00000348022.2_Missense_Mutation_p.Y14C|RBBP6_ENST00000452655.2_Missense_Mutation_p.Y14C	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	14	DWNN.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAACTCAACTATGATACCGTC	0.473													20	72					0	0	0	0	G	24551988	A	G	24551988	3	3	196	1	0	0	0	0	1	0	0	0	13185	449	16	5	43	5	RBBP6	16	24551988	Missense_Mutation	SNP	A	TCGA-CR-7369-01A-11D-2129-08		24551988	65802765	67	34705											
RGS9	8787	broad.mit.edu	37	chr17	63223491	63223491	+	Frame_Shift_Del	DEL	A	A	-																															gtcgggtgaccgggccacagAaaaggaggtcatctgcccct																										TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr17:63223491delA	ENST00000449996.3	+	19	2054	c.1982delA	c.(1981-1983)gafs	p.E661fs	RGS9_ENST00000262406.9_Frame_Shift_Del_p.E664fs	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	664					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CGGGCCACAGAAAAGGAGGTC	0.582													13	36	---	---	---	---					-	63223491	A	-	63223491	7	5	196	1	0	1	0	1	0	0	0	0	13396	246	9	0	2120	0	RGS9	17	63223491	Frame_Shift_Del	DEL	A	TCGA-CR-7369-01A-11D-2129-08		63223491	17971719	68	34706											
CCDC40	55036	broad.mit.edu	37	chr17	78063685	78063685	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagatccacaggatgaaggTgaggggaggagagcggcgtg	11	4	20	6	3	0	4	0	2	0	2	1	8	1	6	1	6	1	0	1	6	1	0			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr17:78063685T>G	ENST00000397545.4	+	17	2859		c.e17+2		CCDC40_ENST00000573903.1_Splice_Site|CCDC40_ENST00000374877.3_Splice_Site	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40						axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGATGAAGGTGAGGGGAGGA	0.627													10	32					0	0	0	0	G	78063685	T	G	78063685	5	3	196	1	0	0	0	0	0	0	1	0	2838	1710	59	5	2900	5	CCDC40	17	78063685	Splice_Site	SNP	T	TCGA-CR-7369-01A-11D-2129-08	14840194	78063685	3131525	69	34707											
PIP5K1C	23396	broad.mit.edu	37	chr19	3648623	3648623	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagacccgggcacccacCtgtaggactgcaggatgtcg	8	6	13	14	2	0	1	0	0	0	1	1	3	0	3	3	3	2	4	3	3	1	1			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:3648623C>A	ENST00000335312.3	-	9	1299	c.1211_splice	c.e9+1	p.R404_splice	PIP5K1C_ENST00000539785.1_Splice_Site_p.R404_splice|PIP5K1C_ENST00000589578.1_Splice_Site_p.R404_splice|PIP5K1C_ENST00000537021.1_Splice_Site_p.R404_splice	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	404	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGGCACCCACCTGTAGGACTG	0.706													15	57					5.3912e-06	5.72128e-06	1	0	A	3648623	C	A	3648623	5	1	196	1	0	0	0	0	0	0	1	0	12013	695	24	4	835	4	PIP5K1C	19	3648623	Splice_Site	SNP	C	TCGA-CR-7369-01A-11D-2129-08		3648623	55480360	70	34708											
CCDC94	55702	broad.mit.edu	37	chr19	4267629	4267629	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacctgcaggccccaaaGcccaagaggaaggtggaggt	12	4	13	12	0	1	1	1	0	0	1	1	3	1	3	4	5	2	1	4	5	3	0	rs144896215	byFrequency	TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:4267629G>A	ENST00000262962.7	+	7	785	c.717G>A	c.(715-717)aaG>aaA	p.K239K		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	239										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGCCCCAAAGCCCAAGAGGA	0.687											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	37					0	0	0	0	A	4267629	G	A	4267629	2	1	196	1	0	0	0	0	0	0	0	1	2900	962	34	4		4	CCDC94	19	4267629	Silent	SNP	G	TCGA-CR-7369-01A-11D-2129-08	619006	4267629	54861354	71	34709											
ZNRF4	148066	broad.mit.edu	37	chr19	5455922	5455922	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggaggtcaagccagccaaCgcgtgccatcccatcgaggc	10	5	12	14	3	1	0	1	0	0	0	3	2	2	1	4	3	4	0	4	3	2	0			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:5455922C>T	ENST00000222033.4	+	1	497	c.420C>T	c.(418-420)aaC>aaT	p.N140N		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	140	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		AGCCAGCCAACGCGTGCCATC	0.672													22	67					0	0	0	0	T	5455922	C	T	5455922	2	4	196	1	0	0	0	0	0	0	0	1	18307	535	19	1		1	ZNRF4	19	5455922	Silent	SNP	C	TCGA-CR-7369-01A-11D-2129-08	1188293	5455922	53673061	72	34710											
MUC16	94025	broad.mit.edu	37	chr19	8966769	8966769	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccgagccagtggcgagAagttacacagggagtccacc	10	6	12	13	2	1	1	0	0	1	1	3	4	2	2	4	2	2	1	4	2	2	1			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:8966769A>G	ENST00000397910.4	-	81	43387	c.43184T>C	c.(43183-43185)tTc>tCc	p.F14395S	MUC16_ENST00000380951.5_Missense_Mutation_p.F1036S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14493				Missing (in Ref. 3; AAK74120).	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						CAGTGGCGAGAAGTTACACAG	0.527													2	7					0	0	0	0	G	8966769	A	G	8966769	3	3	196	1	0	0	0	0	1	0	0	0	10043	246	9	5	355	5	MUC16	19	8966769	Missense_Mutation	SNP	A	TCGA-CR-7369-01A-11D-2129-08	3510847	8966769	50162214	73	34711											
ERCC1	2067	broad.mit.edu	37	chr19	45916913	45916913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccttcccccaactccttgGgttctttcccagagctctta	5	14	5	17	0	2	1	0	0	2	1	6	1	6	1	5	1	2	2	5	1	2	5			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:45916913G>T	ENST00000013807.5	-	8	1056	c.865C>A	c.(865-867)Cca>Aca	p.P289T	ERCC1_ENST00000589165.1_Intron|ERCC1_ENST00000340192.7_Intron|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000300853.3_Intron|ERCC1_ENST00000588738.1_Intron	NM_202001.2	NP_973730.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	0					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CAACTCCTTGGGTTCTTTCCC	0.512								Nucleotide excision repair (NER)					44	124					5.34276e-22	6.46101e-22	1	0	T	45916913	G	T	45916913	3	4	196	1	0	0	0	0	1	0	0	0	5250	1232	43	4	165	4	ERCC1	19	45916913	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	36950144	45916913	13212070	74	34712											
PRR12	57479	broad.mit.edu	37	chr19	50099696	50099696	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaggtaccacctgcagAgtgtcatccgcaccagtgcc	9	6	10	16	1	1	2	1	0	0	2	2	2	2	2	6	1	3	3	6	1	1	1			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:50099696A>T	ENST00000418929.2	+	4	2116	c.2104A>T	c.(2104-2106)Agt>Tgt	p.S702C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	431	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)		CCACCTGCAGAGTGTCATCCG	0.657													14	20					0	0	0	0	T	50099696	A	T	50099696	3	4	196	1	0	0	0	0	1	0	0	0	12664	304	11	5	2118	5	PRR12	19	50099696	Missense_Mutation	SNP	A	TCGA-CR-7369-01A-11D-2129-08	4182783	50099696	9029287	75	34713											
ZNF543	125919	broad.mit.edu	37	chr19	57839395	57839395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcacatggaccagttacaGatgccttgattcgcgaagag	12	10	10	9	2	1	3	1	1	0	2	2	5	1	4	2	1	2	1	2	1	2	4			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:57839395G>A	ENST00000321545.4	+	4	910	c.565G>A	c.(565-567)Gat>Aat	p.D189N		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		ACCAGTTACAGATGCCTTGAT	0.403													29	81					0	0	0	0	A	57839395	G	A	57839395	3	1	196	1	0	0	0	0	1	0	0	0	18071	942	33	2	579	2	ZNF543	19	57839395	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	7739699	57839395	1289588	76	34714											
ANGPT4	51378	broad.mit.edu	37	chr20	896725	896725	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgggcagcaagaaggtgtAgctacagtggccgtgctgga	9	8	16	8	1	0	1	0	0	0	1	0	2	0	2	1	4	4	5	1	4	4	3			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr20:896725A>C	ENST00000381922.3	-	1	235	c.133T>G	c.(133-135)Tac>Gac	p.Y45D	ANGPT4_ENST00000546022.1_Missense_Mutation_p.Y45D	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	45					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AAGAAGGTGTAGCTACAGTGG	0.607													19	65					0	0	0	0	C	896725	A	C	896725	3	2	196	1	0	0	0	0	1	0	0	0	612	420	15	5	1414	5	ANGPT4	20	896725	Missense_Mutation	SNP	A	TCGA-CR-7369-01A-11D-2129-08		896725	62128795	77	34715											
KIAA1755	85449	broad.mit.edu	37	chr20	36841569	36841569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctggggggctgctgccGgaagaaggtggtggcaagca	7	6	19	9	1	0	1	0	0	0	1	0	2	0	2	2	7	4	4	2	7	3	0			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr20:36841569G>A	ENST00000279024.4	-	14	3749	c.3478C>T	c.(3478-3480)Cgg>Tgg	p.R1160W		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1160										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTGCTGCCGGAAGAAGGTG	0.647													17	74					0	0	0	0	A	36841569	G	A	36841569	3	1	196	1	0	0	0	0	1	0	0	0	8308	1115	39	1	128	1	KIAA1755	20	36841569	Missense_Mutation	SNP	G	TCGA-CR-7369-01A-11D-2129-08	35944844	36841569	26183951	78	34716											
PPP1R16B	26051	broad.mit.edu	37	chr20	37464808	37464808	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcctcgctgaggaacgaCgccgaggaaggtaggcccct	9	4	16	12	4	0	1	0	1	0	0	1	6	0	3	4	5	1	2	4	5	3	1			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr20:37464808C>A	ENST00000299824.1	+	2	429	c.240C>A	c.(238-240)gaC>gaA	p.D80E	PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.D80E	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	80					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGAGGAACGACGCCGAGGAAG	0.652													12	41					6.72482e-11	7.68551e-11	1	0	A	37464808	C	A	37464808	3	1	196	1	0	0	0	0	1	0	0	0	12442	535	19	3	242	3	PPP1R16B	20	37464808	Missense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08	623239	37464808	25560712	79	34717											
YWHAB	7529	broad.mit.edu	37	chr20	43530339	43530339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacaagaatgtggtaggCgcccgccgctcttcctggcg	6	8	13	14	4	1	1	0	0	1	1	2	1	2	1	4	3	1	2	4	3	4	3			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr20:43530339C>T	ENST00000372839.3	+	3	439	c.165C>T	c.(163-165)ggC>ggT	p.G55G	YWHAB_ENST00000353703.4_Silent_p.G55G|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	55					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				ATGTGGTAGGCGCCCGCCGCT	0.512													23	41					0	0	0	0	T	43530339	C	T	43530339	2	4	196	1	0	0	0	0	0	0	0	1	17597	755	27	1		1	YWHAB	20	43530339	Silent	SNP	C	TCGA-CR-7369-01A-11D-2129-08	6065531	43530339	19495181	80	34718											
DIP2A	23181	broad.mit.edu	37	chr21	47977603	47977603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaaggcccgcgtcaccttCtgctcctactctgtgatgga	7	11	9	14	2	3	1	1	1	2	0	4	2	4	2	3	2	3	1	3	2	3	3			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr21:47977603C>G	ENST00000318711.7	+	31	3921	c.3738C>G	c.(3736-3738)ttC>ttG	p.F1246L	DIP2A_ENST00000417564.2_Missense_Mutation_p.F1245L|DIP2A_ENST00000400274.1_Missense_Mutation_p.F1241L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1245					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCGTCACCTTCTGCTCCTACT	0.637													8	18					0	0	0	0	G	47977603	C	G	47977603	3	3	196	1	0	0	0	0	1	0	0	0	4564	912	32	2	3970	2	DIP2A	21	47977603	Missense_Mutation	SNP	C	TCGA-CR-7369-01A-11D-2129-08		47977603	152292	81	34719											
SFI1	9814	broad.mit.edu	37	chr22	32009447	32009447	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccaggagggtgccacGcggctcctgcgctttgcagc	4	8	13	16	3	0	0	0	0	0	0	3	1	3	1	4	3	4	3	4	3	0	1			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr22:32009447G>T	ENST00000432498.1	+	25	2973	c.2580G>T	c.(2578-2580)acG>acT	p.T860T	SFI1_ENST00000443011.1_Silent_p.T738T|SFI1_ENST00000400289.1_Silent_p.T809T|SFI1_ENST00000400288.2_Silent_p.T891T|SFI1_ENST00000540643.1_Silent_p.T836T|SFI1_ENST00000414585.1_Silent_p.T738T|SFI1_ENST00000443326.1_Silent_p.T809T	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	891					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						AGGGTGCCACGCGGCTCCTGC	0.682													7	23					2.0095e-06	2.15451e-06	1	0	T	32009447	G	T	32009447	2	4	196	1	0	0	0	0	0	0	0	1	14243	1074	38	3		3	SFI1	22	32009447	Silent	SNP	G	TCGA-CR-7369-01A-11D-2129-08		32009447	19295119	82	34720											
SOX3	6658	broad.mit.edu	37	chrX	139586674	139586674	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtcgatgaatggtcgcttCtcggcgtcggtcagcagttt	5	13	13	10	6	2	1	1	1	1	0	7	2	2	1	0	3	1	3	0	3	1	2			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chrX:139586674C>T	ENST00000370536.2	-	1	551	c.552G>A	c.(550-552)gaG>gaA	p.E184E		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	184					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					ATGGTCGCTTCTCGGCGTCGG	0.612													4	50					0	0	0	0	T	139586674	C	T	139586674	2	4	196	1	0	0	0	0	0	0	0	1	15039	912	32	2		2	SOX3	23	139586674	Silent	SNP	C	TCGA-CR-7369-01A-11D-2129-08		139586674	15683886	83	34721											
CA6	765	broad.mit.edu	37	chr1	9019024	9019024	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatgatatagcccaagatgCgccggatggtttggctgtac	9	11	12	9	2	0	2	0	1	0	1	0	3	0	3	2	3	3	3	2	3	5	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:9019024C>A	ENST00000377443.2	+	4	468	c.464C>A	c.(463-465)gCg>gAg	p.A155E	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Missense_Mutation_p.A155E|CA6_ENST00000377442.2_Missense_Mutation_p.A95E	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	155					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCAAGATGCGCCGGATGGT	0.428													103	52					4.60726e-43	7.43331e-43	1	0	A	9019024	C	A	9019024	3	1	197	1	0	0	0	0	1	0	0	0	2546	768	27	3	478	3	CA6	1	9019024	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08		9019024	240231597	1	34722											
CROCC	9696	broad.mit.edu	37	chr1	17295649	17295649	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagggaccctgcagctGaccgtggagcggctgaatgg	9	5	17	10	2	0	2	0	2	0	0	0	4	0	4	2	5	3	4	2	5	2	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:17295649G>T	ENST00000375541.5	+	32	5184	c.5115G>T	c.(5113-5115)ctG>ctT	p.L1705L		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1705					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCCTGCAGCTGACCGTGGAGC	0.667													3	11					0.004672	0.00482042	1	0	T	17295649	G	T	17295649	2	4	197	1	0	0	0	0	0	0	0	1	3923	1277	45	2		2	CROCC	1	17295649	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	8276625	17295649	231954972	2	34723											
SH3BGRL3	83442	broad.mit.edu	37	chr1	26607338	26607338	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtggacatctcccaggacaAcgccctgagggatgagatgc	11	6	13	11	1	1	2	0	2	1	1	2	6	1	5	2	3	2	0	2	3	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:26607338A>G	ENST00000270792.5	+	2	1111	c.131A>G	c.(130-132)aAc>aGc	p.N44S	SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.N44S	NM_031286.3	NP_112576.1	Q9H299	SH3L3_HUMAN	SH3 domain binding glutamic acid-rich protein like 3	44	Glutaredoxin.				cell redox homeostasis	cytoplasm|nucleus	electron carrier activity|protein disulfide oxidoreductase activity						all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCAGGACAACGCCCTGAGG	0.617													18	10					0	0	0	0	G	26607338	A	G	26607338	3	3	197	1	0	0	0	0	1	0	0	0	14330	43	2	5	137	5	SH3BGRL3	1	26607338	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	9311689	26607338	222643283	3	34724											
CSMD2	114784	broad.mit.edu	37	chr1	34123627	34123627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcacttccctgcagcgCgtagccagggtcacactgga	7	8	11	15	2	2	0	1	0	1	0	3	1	3	1	2	2	4	3	2	2	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:34123627C>T	ENST00000373381.4	-	27	4542	c.4366G>A	c.(4366-4368)Gcg>Acg	p.A1456T	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.A329T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1416	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCTGCAGCGCGTAGCCAGGG	0.592													44	22					0	0	0	0	T	34123627	C	T	34123627	3	4	197	1	0	0	0	0	1	0	0	0	3977	768	27	1	6389	1	CSMD2	1	34123627	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	7516289	34123627	215126994	4	34725											
CSMD2	114784	broad.mit.edu	37	chr1	34174731	34174731	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttcgaatgccctggctttCagctgaattcccttccctgg	6	13	9	13	1	1	1	1	1	0	0	4	2	3	1	3	2	2	3	3	2	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:34174731C>T	ENST00000373381.4	-	22	3710	c.3534G>A	c.(3532-3534)ctG>ctA	p.L1178L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.L51L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1138	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCTGGCTTTCAGCTGAATTC	0.443													8	60					0	0	0	0	T	34174731	C	T	34174731	2	4	197	1	0	0	0	0	0	0	0	1	3977	813	29	2		2	CSMD2	1	34174731	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	51104	34174731	215075890	5	34726											
PSMB2	5690	broad.mit.edu	37	chr1	36068886	36068886	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgttaggagccctgtttgggGaaggaaatgttatccaggtc	9	12	14	6	0	0	0	0	0	0	0	2	3	1	3	2	5	1	3	2	5	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:36068886G>A	ENST00000373237.3	-	6	999	c.588C>T	c.(586-588)ttC>ttT	p.F196F		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	196					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	CCTGTTTGGGGAAGGAAATGT	0.458													12	54					0	0	0	0	A	36068886	G	A	36068886	2	1	197	1	0	0	0	0	0	0	0	1	12756	1165	41	2		2	PSMB2	1	36068886	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1894155	36068886	213181735	6	34727											
TMEM125	128218	broad.mit.edu	37	chr1	43738818	43738818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcccctgcccctgctcGgccgctggccgccatgctgt	1	7	12	21	5	0	0	0	0	0	0	1	0	0	0	8	2	3	3	8	2	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:43738818G>T	ENST00000432792.2	+	4	995	c.425G>T	c.(424-426)cGg>cTg	p.R142L	TMEM125_ENST00000439858.1_Missense_Mutation_p.R142L			Q96AQ2	TM125_HUMAN	transmembrane protein 125	142						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCCTGCTCGGCCGCTGGCC	0.706													9	5					2.74318e-10	3.39264e-10	1	0	T	43738818	G	T	43738818	3	4	197	1	0	0	0	0	1	0	0	0	16131	1116	39	3	427	3	TMEM125	1	43738818	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	7669932	43738818	205511803	7	34728											
PCSK9	255738	broad.mit.edu	37	chr1	55518372	55518372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggcaggggtggtcagcgGccgggatgccggcgtggcca	4	5	20	12	4	1	0	1	0	0	0	1	1	1	1	4	8	2	1	4	8	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:55518372G>A	ENST00000302118.5	+	5	997	c.707G>A	c.(706-708)gGc>gAc	p.G236D	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.G36D|PCSK9_ENST00000452118.2_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	236	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTGGTCAGCGGCCGGGATGCC	0.637													25	11					0	0	0	0	A	55518372	G	A	55518372	3	1	197	1	0	0	0	0	1	0	0	0	11677	1203	42	4	725	4	PCSK9	1	55518372	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	11779554	55518372	193732249	8	34729											
INADL	10207	broad.mit.edu	37	chr1	62340990	62340990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcaacaaggcagatttGacgacctggaaaatcttaat	16	9	8	8	1	2	2	1	1	1	1	2	4	2	3	1	2	1	1	1	2	5	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:62340990G>T	ENST00000371158.2	+	21	3025	c.2911G>T	c.(2911-2913)Gac>Tac	p.D971Y	INADL_ENST00000316485.6_Missense_Mutation_p.D971Y	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	971					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGGCAGATTTGACGACCTGGA	0.338													34	13					7.83172e-31	1.22391e-30	1	0	T	62340990	G	T	62340990	3	4	197	1	0	0	0	0	1	0	0	0	7784	1290	45	2	2989	2	INADL	1	62340990	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	6822618	62340990	186909631	9	34730											
C1orf173	127254	broad.mit.edu	37	chr1	75072536	75072536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagtgctcttttctttcCtagatttcggcaaagacggt	7	16	8	10	2	3	2	1	0	3	2	6	2	4	2	1	2	1	2	1	2	2	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:75072536C>A	ENST00000326665.5	-	10	1456	c.1238G>T	c.(1237-1239)aGg>aTg	p.R413M	C1orf173_ENST00000420661.2_Missense_Mutation_p.R216M|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	413										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						CTTTTCTTTCCTAGATTTCGG	0.408													47	34					2.47907e-22	3.68163e-22	1	0	A	75072536	C	A	75072536	3	1	197	1	0	0	0	0	1	0	0	0	2033	681	24	4	3374	4	C1orf173	1	75072536	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	12731546	75072536	174178085	10	34731											
WDR63	126820	broad.mit.edu	37	chr1	85561694	85561694	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcattgctggaggctgtatCaatgggcaggtacttaacag	11	11	12	7	0	2	0	2	0	0	0	2	1	2	1	0	4	3	5	0	4	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:85561694C>G	ENST00000294664.6	+	11	1434	c.1254C>G	c.(1252-1254)atC>atG	p.I418M	WDR63_ENST00000326813.8_Missense_Mutation_p.I379M|WDR63_ENST00000370596.1_Missense_Mutation_p.I379M	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	418										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GAGGCTGTATCAATGGGCAGG	0.393													31	19					0	0	0	0	G	85561694	C	G	85561694	3	3	197	1	0	0	0	0	1	0	0	0	17410	816	29	2	1292	2	WDR63	1	85561694	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	10489158	85561694	163688927	11	34732											
HFM1	164045	broad.mit.edu	37	chr1	91843694	91843694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttttcattctgctaactAcaacttcaagagttggacca	12	13	6	10	0	3	1	2	0	1	1	3	2	3	2	1	1	4	3	1	1	4	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:91843694A>G	ENST00000370425.3	-	11	1381	c.1283T>C	c.(1282-1284)gTa>gCa	p.V428A	HFM1_ENST00000370424.3_Missense_Mutation_p.V107A|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	428	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCTGCTAACTACAACTTCAAG	0.323													19	16					0	0	0	0	G	91843694	A	G	91843694	3	3	197	1	0	0	0	0	1	0	0	0	7133	391	14	5	3140	5	HFM1	1	91843694	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	6282000	91843694	157406927	12	34733											
COL11A1	1301	broad.mit.edu	37	chr1	103462681	103462681	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctttcccaggatgaccCtatatttagcaaaaacatac	13	12	4	12	0	1	1	0	1	1	0	2	2	2	2	3	1	3	1	3	1	6	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:103462681C>T	ENST00000358392.2	-	26	2550		c.e26-1		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGGATGACCCTATATTTAGC	0.318													100	51					0	0	0	0	T	103462681	C	T	103462681	5	4	197	1	0	0	0	0	0	0	1	0	3697	695	24	4	3392	4	COL11A1	1	103462681	Splice_Site	SNP	C	TCGA-CR-7370-01A-11D-2129-08	11618987	103462681	145787940	13	34734											
COL11A1	1301	broad.mit.edu	37	chr1	103487279	103487279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacaggctcaaccactgctGgttctcctttctgtcctttc	5	16	6	14	0	3	0	1	0	2	0	6	0	4	0	3	2	3	3	3	2	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:103487279G>T	ENST00000358392.2	-	9	1645	c.1328C>A	c.(1327-1329)cCa>cAa	p.P443Q	COL11A1_ENST00000512756.1_Missense_Mutation_p.P315Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.P431Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.P392Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	431	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AACCACTGCTGGTTCTCCTTT	0.363													29	20					1.99505e-19	2.85499e-19	1	0	T	103487279	G	T	103487279	3	4	197	1	0	0	0	0	1	0	0	0	3697	1348	47	4	4364	4	COL11A1	1	103487279	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	24598	103487279	145763342	14	34735											
PDE4DIP	9659	broad.mit.edu	37	chr1	145075791	145075791	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaggcgtgtagtgagcccgGcgggacgcgcgacagcagca	9	4	17	11	6	0	1	0	1	0	0	0	3	0	2	1	3	3	3	1	3	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:145075791G>T	ENST00000369359.4	-	1	110	c.72C>A	c.(70-72)cgC>cgA	p.R24R	PDE4DIP_ENST00000530740.1_Silent_p.R24R|PDE4DIP_ENST00000369348.3_Silent_p.R24R|PDE4DIP_ENST00000369345.4_Silent_p.R24R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTGAGCCCGGCGGGACGCGC	0.716			T	PDGFRB	MPD								17	85					1.36565e-18	1.92479e-18	1	0	T	145075791	G	T	145075791	2	4	197	1	0	0	0	0	0	0	0	1	11714	1190	42	4		4	PDE4DIP	1	145075791	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	41588512	145075791	104174830	15	34736											
CHD1L	9557	broad.mit.edu	37	chr1	146747865	146747865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcaccaacatgatcataGaaggaggccattttactctg	13	10	8	10	0	3	2	2	1	1	1	3	3	3	3	2	2	3	1	2	2	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:146747865G>C	ENST00000369258.4	+	14	1503	c.1483G>C	c.(1483-1485)Gaa>Caa	p.E495Q	CHD1L_ENST00000361293.5_Missense_Mutation_p.E214Q|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.E401Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.E291Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	495	Helicase C-terminal.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CATGATCATAGAAGGAGGCCA	0.453													6	102					0	0	0	0	C	146747865	G	C	146747865	3	2	197	1	0	0	0	0	1	0	0	0	3353	943	33	2	1537	2	CHD1L	1	146747865	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1672074	146747865	102502756	16	34737											
FAM63A	55793	broad.mit.edu	37	chr1	150974945	150974945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttggtctgctggctccCgttctctagcctccccatca	5	12	8	16	1	3	0	1	0	2	0	6	0	5	0	4	2	3	4	4	2	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:150974945C>A	ENST00000361936.5	-	3	1103	c.149G>T	c.(148-150)cGg>cTg	p.R50L	FAM63A_ENST00000361738.6_Missense_Mutation_p.R98L|FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_Intron	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	50							protein binding	p.R50Q(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCTGGCTCCCGTTCTCTAGC	0.592													20	248					7.45023e-12	9.59538e-12	1	0	A	150974945	C	A	150974945	3	1	197	1	0	0	0	0	1	0	0	0	5642	652	23	3	1296	3	FAM63A	1	150974945	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4227080	150974945	98275676	17	34738											
S100A11	6282	broad.mit.edu	37	chr1	152005294	152005294	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaggacaccagggtccttCtggttctgcagagaaaataa	13	9	10	9	0	3	1	1	0	2	1	4	3	4	2	2	3	1	2	2	3	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:152005294C>G	ENST00000271638.2	-	3	281	c.162G>C	c.(160-162)caG>caC	p.Q54H	NBPF18P_ENST00000432386.1_RNA|S100A11_ENST00000478109.1_5'UTR	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	54					negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CAGGGTCCTTCTGGTTCTGCA	0.403													29	52					0	0	0	0	G	152005294	C	G	152005294	3	3	197	1	0	0	0	0	1	0	0	0	13858	912	32	2	159	2	S100A11	1	152005294	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1030349	152005294	97245327	18	34739											
DCST2	127579	broad.mit.edu	37	chr1	155004083	155004083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagagcgccagtttgaaggGcatgagcacgtaacacaggt	13	6	13	9	2	0	3	0	2	0	1	0	3	0	3	1	2	3	4	1	2	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:155004083G>A	ENST00000368424.3	-	4	764	c.706C>T	c.(706-708)Ccc>Tcc	p.P236S	DCST2_ENST00000295536.5_Missense_Mutation_p.P236S	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	236						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGTTTGAAGGGCATGAGCACG	0.592													32	76					0	0	0	0	A	155004083	G	A	155004083	3	1	197	1	0	0	0	0	1	0	0	0	4335	1203	42	4	1663	4	DCST2	1	155004083	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2998789	155004083	94246538	19	34740											
SYT11	23208	broad.mit.edu	37	chr1	155837912	155837912	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgctcaaaggcatcagcaTatacccagagaccctcagca	14	6	7	14	0	3	1	3	0	0	1	3	2	3	1	2	1	4	4	2	1	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:155837912T>C	ENST00000368324.4	+	2	444	c.191T>C	c.(190-192)aTa>aCa	p.I64T	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	64						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GGCATCAGCATATACCCAGAG	0.502													33	70					0	0	0	0	C	155837912	T	C	155837912	3	2	197	1	0	0	0	0	1	0	0	0	15558	1406	49	5	197	5	SYT11	1	155837912	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	833829	155837912	93412709	20	34741											
CD1E	913	broad.mit.edu	37	chr1	158325824	158325824	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaccctggatgtggcggctgGggaggcagctggcctgtcct	5	8	17	11	1	0	0	0	0	0	0	1	2	1	2	3	7	2	3	3	7	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:158325824G>C	ENST00000444681.2	+	3	829	c.536G>C	c.(535-537)gGg>gCg	p.G179A	CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.G188A|CD1E_ENST00000368167.3_Missense_Mutation_p.G278A|CD1E_ENST00000434258.1_Missense_Mutation_p.G276A|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.G278A|CD1E_ENST00000368166.3_Missense_Mutation_p.G89A|CD1E_ENST00000368165.3_Missense_Mutation_p.G188A|CD1E_ENST00000452291.2_Missense_Mutation_p.G89A|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	278					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTGGCGGCTGGGGAGGCAGCT	0.607													39	64					0	0	0	0	C	158325824	G	C	158325824	3	2	197	1	0	0	0	0	1	0	0	0	3007	1232	43	4	847	4	CD1E	1	158325824	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2487912	158325824	90924797	21	34742											
OR10K1	391109	broad.mit.edu	37	chr1	158435444	158435444	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctgctctttgttatcttCctgctcctctacctgttcac	4	17	5	15	0	4	0	1	0	3	0	6	0	6	0	3	0	4	5	3	0	2	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:158435444C>T	ENST00000289451.2	+	1	173	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTGTTATCTTCCTGCTCCTCT	0.517													40	65					0	0	0	0	T	158435444	C	T	158435444	2	4	197	1	0	0	0	0	0	0	0	1	10984	854	30	2		2	OR10K1	1	158435444	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	109620	158435444	90815177	22	34743											
SPTA1	6708	broad.mit.edu	37	chr1	158582607	158582607	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaaccagaatcggacCtgcttcatgtcttctttggt	9	12	10	10	1	3	1	1	0	2	1	4	3	3	3	2	3	3	2	2	3	3	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:158582607C>T	ENST00000368148.3	-	51	7314	c.7134_splice	c.e51+1	p.Q2378_splice	SPTA1_ENST00000368147.3_Splice_Site_p.Q2375_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2378	EF-hand 3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q2378H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGAATCGGACCTGCTTCATGT	0.458													26	51					0	0	0	0	T	158582607	C	T	158582607	5	4	197	1	0	0	0	0	0	0	1	0	15206	695	24	4	133	4	SPTA1	1	158582607	Splice_Site	SNP	C	TCGA-CR-7370-01A-11D-2129-08	147163	158582607	90668014	23	34744											
SPTA1	6708	broad.mit.edu	37	chr1	158627344	158627344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgatccatgtttctgcttCatgcaggtcagccaggtact	7	14	9	11	0	4	1	2	1	2	0	5	1	5	1	2	2	4	4	2	2	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:158627344C>G	ENST00000368148.3	-	19	2908	c.2728G>C	c.(2728-2730)Gaa>Caa	p.E910Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.E910Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	910					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTTCTGCTTCATGCAGGTCA	0.473													71	111					0	0	0	0	G	158627344	C	G	158627344	3	3	197	1	0	0	0	0	1	0	0	0	15206	835	29	2	4667	2	SPTA1	1	158627344	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	44737	158627344	90623277	24	34745											
DARC	2532	broad.mit.edu	37	chr1	159175930	159175930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaaggggctgaagaaggCattgggtatggggccaggcc	10	5	18	8	0	0	2	0	1	0	1	0	2	0	2	3	7	1	3	3	7	4	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:159175930C>A	ENST00000537147.1	+	3	1544	c.701C>A	c.(700-702)gCa>gAa	p.A234E	DARC_ENST00000368121.2_Missense_Mutation_p.A236E|DARC_ENST00000368122.2_Missense_Mutation_p.A234E			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	234					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTGAAGAAGGCATTGGGTATG	0.542													26	62					6.12954e-19	8.65551e-19	1	0	A	159175930	C	A	159175930	3	1	197	1	0	0	0	0	1	0	0	0	4273	710	25	4	734	4	DARC	1	159175930	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	548586	159175930	90074691	25	34746											
DEDD	9191	broad.mit.edu	37	chr1	161093691	161093691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctctgggggtcacatagCgaattgatgtctcctccaga	8	10	13	10	1	3	2	1	1	2	1	5	3	4	2	2	3	1	1	2	3	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:161093691C>G	ENST00000392188.1	-	4	605	c.371G>C	c.(370-372)cGc>cCc	p.R124P	DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000545495.1_Missense_Mutation_p.R124P|DEDD_ENST00000368006.3_Missense_Mutation_p.R124P|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368005.1_Missense_Mutation_p.R124P|DEDD_ENST00000458050.2_Missense_Mutation_p.R124P			O75618	DEDD_HUMAN	death effector domain containing	124					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGTCACATAGCGAATTGATGT	0.483													37	97					0	0	0	0	G	161093691	C	G	161093691	3	3	197	1	0	0	0	0	1	0	0	0	4416	768	27	3	597	3	DEDD	1	161093691	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1917761	161093691	88156930	26	34747											
DDR2	4921	broad.mit.edu	37	chr1	162731083	162731083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctctgaagccagtgagtGggaacctaatgccatttcct	9	10	10	12	1	1	2	0	2	1	0	2	3	2	3	5	1	3	1	5	1	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:162731083G>T	ENST00000367922.2	+	10	1376	c.938G>T	c.(937-939)tGg>tTg	p.W313L	DDR2_ENST00000367921.3_Missense_Mutation_p.W313L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	313					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GCCAGTGAGTGGGAACCTAAT	0.527													28	30					2.12542e-12	2.766e-12	1	0	T	162731083	G	T	162731083	3	4	197	1	0	0	0	0	1	0	0	0	4369	1357	47	4	964	4	DDR2	1	162731083	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1637392	162731083	86519538	27	34748											
C1orf110	339512	broad.mit.edu	37	chr1	162824618	162824618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgccctggatgatgaGgattccccatgcccaaatat	9	12	8	12	0	0	2	0	2	0	0	2	4	2	4	5	2	2	0	5	2	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:162824618G>A	ENST00000367910.1	-	4	966	c.846C>T	c.(844-846)tcC>tcT	p.S282S	C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.1_Intron|C1orf110_ENST00000367911.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	282										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TGGATGATGAGGATTCCCCAT	0.473													50	71					0	0	0	0	A	162824618	G	A	162824618	2	1	197	1	0	0	0	0	0	0	0	1	2002	987	35	4		4	C1orf110	1	162824618	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	93535	162824618	86426003	28	34749											
CEP350	9857	broad.mit.edu	37	chr1	180006140	180006140	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacgccattgaggagtcGgtgcgccaactgtcagatgt	9	9	13	10	3	1	3	1	2	0	1	2	4	1	4	2	2	3	0	2	2	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:180006140G>T	ENST00000367607.3	+	17	4444	c.4026G>T	c.(4024-4026)tcG>tcT	p.S1342S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1342						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTGAGGAGTCGGTGCGCCAAC	0.468													7	7					5.4927e-09	6.56488e-09	1	0	T	180006140	G	T	180006140	2	4	197	1	0	0	0	0	0	0	0	1	3283	1103	39	3		3	CEP350	1	180006140	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	17181522	180006140	69244481	29	34750											
CACNA1E	777	broad.mit.edu	37	chr1	181690908	181690908	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagatcctgacgggtgaGgactggaatgaggtgatgta	10	11	16	4	1	0	5	0	4	0	1	1	7	1	7	1	4	0	2	1	4	3	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:181690908G>A	ENST00000526775.1	+	16	2136	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	CACNA1E_ENST00000367570.1_Silent_p.E657E|CACNA1E_ENST00000367567.4_Silent_p.E264E|CACNA1E_ENST00000357570.5_Silent_p.E608E|CACNA1E_ENST00000358338.5_Silent_p.E608E|CACNA1E_ENST00000360108.3_Silent_p.E657E|CACNA1E_ENST00000367573.2_Silent_p.E657E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	657		Calcium ion selectivity and permeability (By similarity).			energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGACGGGTGAGGACTGGAATG	0.542													54	122					0	0	0	0	A	181690908	G	A	181690908	2	1	197	1	0	0	0	0	0	0	0	1	2567	991	35	4		4	CACNA1E	1	181690908	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1684768	181690908	67559713	30	34751											
UCHL5	51377	broad.mit.edu	37	chr1	193028325	193028325	+	Translation_Start_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttctcaccgaatcctttAatgagctcggtgaagacccc	9	11	9	12	2	1	3	1	2	1	1	4	4	2	3	4	2	1	2	4	2	3	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:193028325A>C	ENST00000530098.2	-	0	142				UCHL5_ENST00000367451.4_Missense_Mutation_p.I22M|UCHL5_ENST00000483156.1_5'UTR|UCHL5_ENST00000367454.1_Missense_Mutation_p.I22M|UCHL5_ENST00000367449.1_Missense_Mutation_p.I22M|UCHL5_ENST00000367455.3_Missense_Mutation_p.I22M|UCHL5_ENST00000367448.1_Missense_Mutation_p.I22M|UCHL5_ENST00000367452.4_Intron			Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5						DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						CGAATCCTTTAATGAGCTCGG	0.677													14	7					0	0	0	0	C	193028325	A	C	193028325	1	2	197	1	0	0	0	0	0	0	0	0	17018	358	13	5		5	UCHL5	1	193028325	Translation_Start_Site	SNP	A	TCGA-CR-7370-01A-11D-2129-08	11337417	193028325	56222296	31	34752											
KCNT2	343450	broad.mit.edu	37	chr1	196227558	196227558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagttgcggtggttgctgcGgtggtgcccttgttctttgg	1	16	17	7	2	1	1	0	1	1	0	1	1	1	1	1	5	4	4	1	5	0	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:196227558G>T	ENST00000367433.5	-	25	3006	c.2905C>A	c.(2905-2907)Cgc>Agc	p.R969S	KCNT2_ENST00000367431.4_Missense_Mutation_p.R927S|KCNT2_ENST00000294725.8_Missense_Mutation_p.R993S|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	993						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGGTTGCTGCGGTGGTGCCCT	0.468													40	79					6.48837e-15	8.76457e-15	1	0	T	196227558	G	T	196227558	3	4	197	1	0	0	0	0	1	0	0	0	8145	1116	39	3	442	3	KCNT2	1	196227558	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	3199233	196227558	53023063	32	34753											
CRB1	23418	broad.mit.edu	37	chr1	197404354	197404354	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtttcattaataaacctCaggaagagcaatttctcaaa	16	12	6	7	0	3	1	3	0	1	1	4	2	3	2	1	2	2	2	1	2	6	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:197404354C>A	ENST00000367397.1	+	5	2362	c.1504C>A	c.(1504-1506)Cag>Aag	p.Q502K	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.Q1009K|CRB1_ENST00000544212.1_Missense_Mutation_p.Q602K|CRB1_ENST00000367400.3_Missense_Mutation_p.Q1121K|CRB1_ENST00000535699.1_Missense_Mutation_p.Q1097K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1121	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAATAAACCTCAGGAAGAGCA	0.398													30	72					1.13719e-10	1.42054e-10	1	0	A	197404354	C	A	197404354	3	1	197	1	0	0	0	0	1	0	0	0	3878	827	29	2	3395	2	CRB1	1	197404354	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1176796	197404354	51846267	33	34754											
SLC26A9	115019	broad.mit.edu	37	chr1	205900999	205900999	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcacctggatgatggCggtgaggcaggctagcgtag	7	7	15	12	2	1	2	1	2	0	0	1	3	1	3	3	5	1	3	3	5	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:205900999C>G	ENST00000367135.3	-	5	654	c.541G>C	c.(541-543)Gcc>Ccc	p.A181P	SLC26A9_ENST00000340781.4_Missense_Mutation_p.A181P|SLC26A9_ENST00000367134.2_Missense_Mutation_p.A181P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	181						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGGATGATGGCGGTGAGGCAG	0.562													21	31					0	0	0	0	G	205900999	C	G	205900999	3	3	197	1	0	0	0	0	1	0	0	0	14612	768	27	3	2198	3	SLC26A9	1	205900999	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	8496645	205900999	43349622	34	34755											
PIGR	5284	broad.mit.edu	37	chr1	207106357	207106357	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatccacagatgctctgctCccatcggcttgatctcttgt	7	13	8	13	1	2	2	0	1	2	1	6	3	4	2	2	1	2	3	2	1	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:207106357C>A	ENST00000356495.4	-	7	2043	c.1860G>T	c.(1858-1860)ggG>ggT	p.G620G		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	620						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATGCTCTGCTCCCATCGGCTT	0.557													25	63					3.65163e-15	4.95057e-15	1	0	A	207106357	C	A	207106357	2	1	197	1	0	0	0	0	0	0	0	1	11969	842	30	2		2	PIGR	1	207106357	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1205358	207106357	42144264	35	34756											
CAMK1G	57172	broad.mit.edu	37	chr1	209781228	209781228	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgctggcccagaaaccCtacagcaaggctgtggattg	11	7	13	10	0	0	1	0	0	0	1	0	3	0	2	2	3	4	3	2	3	4	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:209781228C>A	ENST00000009105.1	+	7	830	c.585C>A	c.(583-585)ccC>ccA	p.P195P	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Silent_p.P195P			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	195	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCCAGAAACCCTACAGCAAGG	0.597													56	87					3.89483e-19	5.56298e-19	1	0	A	209781228	C	A	209781228	2	1	197	1	0	0	0	0	0	0	0	1	2623	668	24	4		4	CAMK1G	1	209781228	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2674871	209781228	39469393	36	34757											
KCNH1	3756	broad.mit.edu	37	chr1	211093374	211093374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcccaagacggagcagcCggacaacttttagagagctg	11	6	12	12	3	0	2	0	0	0	2	1	5	0	4	2	2	4	2	2	2	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:211093374C>A	ENST00000367007.4	-	7	1158	c.989G>T	c.(988-990)cGg>cTg	p.R330L	KCNH1_ENST00000271751.4_Missense_Mutation_p.R357L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	357					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACGGAGCAGCCGGACAACTTT	0.567													29	62					6.38683e-12	8.26857e-12	1	0	A	211093374	C	A	211093374	3	1	197	1	0	0	0	0	1	0	0	0	8084	652	23	3	1919	3	KCNH1	1	211093374	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1312146	211093374	38157247	37	34758											
PROX1	5629	broad.mit.edu	37	chr1	214170119	214170119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagagggcgaactcgtatGaagatgccatgatgcctttt	11	11	12	7	2	0	5	0	3	0	2	1	6	0	5	2	1	3	1	2	1	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:214170119G>A	ENST00000366958.4	+	2	849	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	PROX1_ENST00000498508.2_Missense_Mutation_p.E81K|PROX1_ENST00000261454.4_Missense_Mutation_p.E81K|PROX1_ENST00000435016.1_Missense_Mutation_p.E81K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	81					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAACTCGTATGAAGATGCCAT	0.478													9	71					0	0	0	0	A	214170119	G	A	214170119	3	1	197	1	0	0	0	0	1	0	0	0	12640	1291	45	2	243	2	PROX1	1	214170119	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	3076745	214170119	35080502	38	34759											
PROX1	5629	broad.mit.edu	37	chr1	214170863	214170863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaagccgaagcgagaaGgcaacaacaaagaaagagac	23	0	10	8	2	0	3	0	0	0	3	0	6	0	3	1	1	5	1	1	1	9	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:214170863G>A	ENST00000366958.4	+	2	1593	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	PROX1_ENST00000498508.2_Missense_Mutation_p.G329S|PROX1_ENST00000261454.4_Missense_Mutation_p.G329S|PROX1_ENST00000435016.1_Missense_Mutation_p.G329S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	329					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAAGCGAGAAGGCAACAACAA	0.493													9	50					0	0	0	0	A	214170863	G	A	214170863	3	1	197	1	0	0	0	0	1	0	0	0	12640	1000	35	4	987	4	PROX1	1	214170863	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	744	214170863	35079758	39	34760											
USH2A	7399	broad.mit.edu	37	chr1	215955411	215955411	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggcacagccagcaacCgtgcaagctttcagctgata	10	8	11	12	1	1	1	1	1	0	0	1	1	1	1	2	2	6	5	2	2	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:215955411C>G	ENST00000366943.2	-	54	11099	c.10713G>C	c.(10711-10713)acG>acC	p.T3571T	USH2A_ENST00000307340.3_Silent_p.T3571T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3571	Fibronectin type-III 20.		T -> M (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCCAGCAACCGTGCAAGCTT	0.443										HNSCC(13;0.011)			37	62					0	0	0	0	G	215955411	C	G	215955411	2	3	197	1	0	0	0	0	0	0	0	1	17132	639	23	3		3	USH2A	1	215955411	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1784548	215955411	33295210	40	34761											
USH2A	7399	broad.mit.edu	37	chr1	216258127	216258127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgttcttcagaactctGccaatccagaggttcccaaa	11	12	7	11	0	3	2	1	0	2	2	5	3	5	2	3	1	2	2	3	1	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:216258127G>T	ENST00000366943.2	-	25	5466	c.5080C>A	c.(5080-5082)Cag>Aag	p.Q1694K	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.Q1694K|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1694	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCAGAACTCTGCCAATCCAGA	0.433										HNSCC(13;0.011)			54	88					3.4597e-24	5.23157e-24	1	0	T	216258127	G	T	216258127	3	4	197	1	0	0	0	0	1	0	0	0	17132	1328	46	4	10720	4	USH2A	1	216258127	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	302716	216258127	32992494	41	34762											
SPATA17	128153	broad.mit.edu	37	chr1	217822275	217822275	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgcagcagttaaaatccaAagctggtttcgaggatgtca	13	10	11	7	1	1	0	1	0	0	0	3	3	2	1	1	2	3	5	1	2	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:217822275A>T	ENST00000366933.4	+	2	175	c.120A>T	c.(118-120)caA>caT	p.Q40H		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	40	IQ 1.					cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTAAAATCCAAAGCTGGTTTC	0.303													25	60					0	0	0	0	T	217822275	A	T	217822275	3	4	197	1	0	0	0	0	1	0	0	0	15092	11	1	5	126	5	SPATA17	1	217822275	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	1564148	217822275	31428346	42	34763											
TRIM67	440730	broad.mit.edu	37	chr1	231335944	231335944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagctgcgtcagtccacCggactgatggagtactgcct	8	10	12	11	2	1	2	1	2	0	0	2	4	2	4	3	2	4	2	3	2	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:231335944C>T	ENST00000444294.3	+	4	2172	c.1314C>T	c.(1312-1314)acC>acT	p.T438T	TRIM67_ENST00000366652.2_Silent_p.T438T|TRIM67_ENST00000449018.3_Silent_p.T376T|TRIM67_ENST00000366653.5_Silent_p.T438T	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	438						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTCAGTCCACCGGACTGATGG	0.522													14	147					0	0	0	0	T	231335944	C	T	231335944	2	4	197	1	0	0	0	0	0	0	0	1	16635	639	23	1		1	TRIM67	1	231335944	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	13513669	231335944	17914677	43	34764											
RBM34	23029	broad.mit.edu	37	chr1	235324273	235324273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgaagagggacgccagccGaccggtgccacctctggaat	10	5	13	13	3	1	2	0	1	1	1	1	5	1	4	5	3	2	0	5	3	2	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:235324273G>A	ENST00000408888.3	-	2	393	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	RBM34_ENST00000366606.3_Missense_Mutation_p.R50W			P42696	RBM34_HUMAN	RNA binding motif protein 34	55						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GACGCCAGCCGACCGGTGCCA	0.587													16	61					0	0	0	0	A	235324273	G	A	235324273	3	1	197	1	0	0	0	0	1	0	0	0	13213	1057	37	1	1190	1	RBM34	1	235324273	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	3988329	235324273	13926348	44	34765											
RYR2	6262	broad.mit.edu	37	chr1	237774236	237774236	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgccaaggctggttggtgCagtgtttggatcctctgcag	7	11	14	9	1	1	0	0	0	1	0	2	1	2	1	2	4	3	5	2	4	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:237774236C>A	ENST00000366574.2	+	36	5175	c.4858C>A	c.(4858-4860)Cag>Aag	p.Q1620K	RYR2_ENST00000360064.6_Missense_Mutation_p.Q1618K|RYR2_ENST00000542537.1_Missense_Mutation_p.Q1604K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1620	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGGTTGGTGCAGTGTTTGGA	0.502													5	14					2.0095e-06	2.26751e-06	1	0	A	237774236	C	A	237774236	3	1	197	1	0	0	0	0	1	0	0	0	13854	711	25	4	5000	4	RYR2	1	237774236	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2449963	237774236	11476385	45	34766											
RYR2	6262	broad.mit.edu	37	chr1	237817705	237817705	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcatttttgatgccctGtctcaaaaggtaatttaatg	10	15	10	6	0	1	1	1	1	1	0	2	1	1	1	1	3	1	2	1	3	4	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:237817705G>T	ENST00000366574.2	+	52	8273	c.7956G>T	c.(7954-7956)ctG>ctT	p.L2652L	RYR2_ENST00000360064.6_Silent_p.L2650L|RYR2_ENST00000542537.1_Silent_p.L2636L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2652	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGATGCCCTGTCTCAAAAGG	0.378													11	24					2.80697e-09	3.38741e-09	1	0	T	237817705	G	T	237817705	2	4	197	1	0	0	0	0	0	0	0	1	13854	1364	48	4		4	RYR2	1	237817705	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	43469	237817705	11432916	46	34767											
RYR2	6262	broad.mit.edu	37	chr1	237843850	237843850	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgctctggaggacatgcttCcaacaaagagaaagaaatgg	15	7	11	8	0	1	2	0	0	1	2	2	5	2	4	1	3	3	2	1	3	4	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:237843850C>G	ENST00000366574.2	+	62	9307	c.8990C>G	c.(8989-8991)tCc>tGc	p.S2997C	RYR2_ENST00000360064.6_Missense_Mutation_p.S2995C|RYR2_ENST00000542537.1_Missense_Mutation_p.S2981C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2997	Calmodulin-binding (Potential).|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGACATGCTTCCAACAAAGAG	0.388													9	8					0	0	0	0	G	237843850	C	G	237843850	3	3	197	1	0	0	0	0	1	0	0	0	13854	855	30	2	9236	2	RYR2	1	237843850	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	26145	237843850	11406771	47	34768											
FMN2	56776	broad.mit.edu	37	chr1	240370334	240370334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcataggattttagaggCgaaatcgatacagacttccc	13	10	9	9	2	1	2	1	0	0	2	3	5	2	3	1	2	1	1	1	2	4	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:240370334C>T	ENST00000319653.9	+	5	2452	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	741					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATTTTAGAGGCGAAATCGATA	0.567													10	27					0	0	0	0	T	240370334	C	T	240370334	3	4	197	1	0	0	0	0	1	0	0	0	5995	768	27	1	2240	1	FMN2	1	240370334	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2526484	240370334	8880287	48	34769											
CHML	1122	broad.mit.edu	37	chr1	241798273	241798273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttccttcccgaaatgcaaGaatcctagtgacatttttaa	12	14	5	10	1	0	2	0	1	0	1	3	3	3	2	3	0	1	1	3	0	5	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:241798273G>C	ENST00000366553.1	-	1	959	c.796C>G	c.(796-798)Ctt>Gtt	p.L266V	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	266					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CGAAATGCAAGAATCCTAGTG	0.358													19	36					0	0	0	0	C	241798273	G	C	241798273	3	2	197	1	0	0	0	0	1	0	0	0	3380	942	33	2	1178	2	CHML	1	241798273	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1427939	241798273	7452348	49	34770											
CNST	163882	broad.mit.edu	37	chr1	246784843	246784844	+	Frame_Shift_Ins	INS	-	-	GC																															atgctaatgagcagccagagINSgcgccaaagcttgttctgca																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:246784843_246784844insGC	ENST00000366513.4	+	3	761_762	c.492_493insGC	c.(490-495)gacgccfs	p.DA164fs	CNST_ENST00000366512.3_Frame_Shift_Ins_p.DA164fs|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	164					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGCAGCCAGAGGCGCCAAAGCT	0.441													134	214	---	---	---	---					GC	246784844	-	GC	246784843	7	5	197	1	0	1	1	0	0	0	0	0	3664	991	35	0	498	0	CNST	1	246784843	Frame_Shift_Ins	INS	-	TCGA-CR-7370-01A-11D-2129-08	4986570	246784843	2465778	50	34771											
OR2G3	81469	broad.mit.edu	37	chr1	247769784	247769784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaacaaggatatgaaagaGgctctgaggaaacttctctc	15	8	11	7	0	2	3	0	2	2	1	4	6	2	6	0	4	2	1	0	4	5	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:247769784G>C	ENST00000320002.2	+	1	929	c.897G>C	c.(895-897)gaG>gaC	p.E299D	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATATGAAAGAGGCTCTGAGGA	0.408													39	76					0	0	0	0	C	247769784	G	C	247769784	3	2	197	1	0	0	0	0	1	0	0	0	11070	991	35	4	899	4	OR2G3	1	247769784	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	984941	247769784	1480837	51	34772											
OR2L3	391192	broad.mit.edu	37	chr1	248224349	248224349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctatggcctatgatcgttaCattgctatttgctttcctct	6	19	6	10	1	2	1	0	1	2	0	4	1	3	1	2	1	3	3	2	1	4	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:248224349C>T	ENST00000359959.3	+	1	366	c.366C>T	c.(364-366)taC>taT	p.Y122Y	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATGATCGTTACATTGCTATTT	0.448													100	141					0	0	0	0	T	248224349	C	T	248224349	2	4	197	1	0	0	0	0	0	0	0	1	11079	489	17	4		4	OR2L3	1	248224349	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	454565	248224349	1026272	52	34773											
OR2M2	391194	broad.mit.edu	37	chr1	248343675	248343675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgctatttgccaccctCtaagatataccaatctcatg	12	14	4	11	0	2	1	1	0	2	1	3	1	2	1	3	0	3	1	3	0	6	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:248343675C>A	ENST00000359682.2	+	1	388	c.388C>A	c.(388-390)Cta>Ata	p.L130I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTGCCACCCTCTAAGATATAC	0.403													133	263					1.14977e-51	1.87938e-51	1	0	A	248343675	C	A	248343675	3	1	197	1	0	0	0	0	1	0	0	0	11081	912	32	2	390	2	OR2M2	1	248343675	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	119326	248343675	906946	53	34774											
OR2T12	127064	broad.mit.edu	37	chr1	248458101	248458101	+	Frame_Shift_Del	DEL	G	G	-																															ttagtggacctgtgggatttGggtctcatataggtaaaaat																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:248458101delG	ENST00000317996.1	-	1	779	c.780delC	c.(778-780)ccfs	p.P260fs		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGTGGGATTTGGGTCTCATAT	0.483													52	96	---	---	---	---					-	248458101	G	-	248458101	7	5	197	1	0	1	0	1	0	0	0	0	11090	1335	47	0	185	0	OR2T12	1	248458101	Frame_Shift_Del	DEL	G	TCGA-CR-7370-01A-11D-2129-08	114426	248458101	792520	54	34775											
OR2M7	391196	broad.mit.edu	37	chr1	248487047	248487047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacgatggtgtagaatacaGacaccatcttgtcctgcata	12	11	9	9	1	1	3	0	1	1	2	2	4	2	3	2	1	2	2	2	1	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:248487047G>A	ENST00000317965.2	-	1	852	c.824C>T	c.(823-825)tCt>tTt	p.S275F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTAGAATACAGACACCATCTT	0.463													43	64					0	0	0	0	A	248487047	G	A	248487047	3	1	197	1	0	0	0	0	1	0	0	0	11085	942	33	2	117	2	OR2M7	1	248487047	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	28946	248487047	763574	55	34776											
OR2T10	127069	broad.mit.edu	37	chr1	248756557	248756557	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagaagtgctgaatctcatgGgatctgcagaaggggaagct	13	8	14	6	0	2	3	1	1	2	2	3	5	2	5	0	3	3	3	0	3	5	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:248756557G>A	ENST00000330500.2	-	1	543	c.513C>T	c.(511-513)tcC>tcT	p.S171S		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAATCTCATGGGATCTGCAGA	0.502													49	94					0	0	0	0	A	248756557	G	A	248756557	2	1	197	1	0	0	0	0	0	0	0	1	11088	1219	43	4		4	OR2T10	1	248756557	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	269510	248756557	494064	56	34777											
PXDN	7837	broad.mit.edu	37	chr2	1652098	1652098	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatggccgccaggtccaGagccaccgtgtgtgccatgg	6	8	15	12	2	0	2	0	1	0	1	1	2	1	2	6	3	2	1	6	3	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:1652098G>T	ENST00000252804.4	-	17	3504	c.3454C>A	c.(3454-3456)Ctg>Atg	p.L1152M		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1152					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCCAGGTCCAGAGCCACCGTG	0.647													24	42					1.37878e-21	2.01951e-21	1	0	T	1652098	G	T	1652098	3	4	197	1	0	0	0	0	1	0	0	0	12929	933	33	2	1013	2	PXDN	2	1652098	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08		1652098	241547275	57	34778											
PXDN	7837	broad.mit.edu	37	chr2	1652817	1652817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccgtacacgttggatGcgtctatgtaggaggtgagc	7	11	14	9	3	1	1	0	1	1	0	2	3	2	3	1	3	4	4	1	3	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:1652817G>A	ENST00000252804.4	-	17	2785	c.2735C>T	c.(2734-2736)gCa>gTa	p.A912V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	912					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CACGTTGGATGCGTCTATGTA	0.672													18	22					0	0	0	0	A	1652817	G	A	1652817	3	1	197	1	0	0	0	0	1	0	0	0	12929	1319	46	4	1732	4	PXDN	2	1652817	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	719	1652817	241546556	58	34779											
PXDN	7837	broad.mit.edu	37	chr2	1668820	1668820	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaataacgactctgtcctGaggcgtcacagtgaactgag	11	9	10	11	2	3	3	2	3	1	0	4	4	4	3	1	1	2	0	1	1	3	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:1668820G>C	ENST00000252804.4	-	11	1368	c.1318C>G	c.(1318-1320)Cag>Gag	p.Q440E		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	440	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACTCTGTCCTGAGGCGTCACA	0.532													9	8					0	0	0	0	C	1668820	G	C	1668820	3	2	197	1	0	0	0	0	1	0	0	0	12929	1299	45	2	3173	2	PXDN	2	1668820	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	16003	1668820	241530553	59	34780											
HPCAL1	3241	broad.mit.edu	37	chr2	10563138	10563138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatggtgtcgtctgtgatGaagatgccggaggatgagtc	10	10	16	5	2	1	5	0	3	1	2	3	7	1	7	1	3	1	0	1	3	2	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:10563138G>A	ENST00000381765.3	+	5	934	c.408G>A	c.(406-408)atG>atA	p.M136I	HPCAL1_ENST00000307845.3_Missense_Mutation_p.M136I	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	136							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CGTCTGTGATGAAGATGCCGG	0.622													11	36					0	0	0	0	A	10563138	G	A	10563138	3	1	197	1	0	0	0	0	1	0	0	0	7380	1290	45	2	414	2	HPCAL1	2	10563138	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	8894318	10563138	232636235	60	34781											
NBAS	51594	broad.mit.edu	37	chr2	15415825	15415825	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaaagcatctgtccatccTtttcagggattttgggaaca	10	12	11	8	0	2	0	1	0	1	0	4	3	4	3	2	3	2	1	2	3	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:15415825T>A	ENST00000281513.5	-	44	5532	c.5507A>T	c.(5506-5508)aAg>aTg	p.K1836M	NBAS_ENST00000441750.1_Missense_Mutation_p.K1716M	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1836										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTGTCCATCCTTTTCAGGGAT	0.433													17	54					0	0	0	0	A	15415825	T	A	15415825	3	1	197	1	0	0	0	0	1	0	0	0	10256	1609	56	5	1644	5	NBAS	2	15415825	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	4852687	15415825	227783548	61	34782											
DNMT3A	1788	broad.mit.edu	37	chr2	25464448	25464448	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgcttctgtgtgacgcTgcggacgtccccgacgtaca	7	10	11	13	5	1	1	0	1	1	0	2	3	2	2	2	1	4	3	2	1	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:25464448T>A	ENST00000264709.3	-	17	2402	c.2065A>T	c.(2065-2067)Agc>Tgc	p.S689C	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.S689C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.S500C|DNMT3A_ENST00000402667.1_Missense_Mutation_p.S466C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	689					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGTGACGCTGCGGACGTCC	0.612			"Mis, F, N, S"		AML								9	43					0	0	0	0	A	25464448	T	A	25464448	3	1	197	1	0	0	0	0	1	0	0	0	4712	1580	55	5	701	5	DNMT3A	2	25464448	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	10048623	25464448	217734925	62	34783											
TRMT61B	55006	broad.mit.edu	37	chr2	29074027	29074027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgattttagattctactTtttgagctaaaattccattt	10	21	5	5	0	1	3	0	2	1	1	2	3	2	3	1	0	2	2	1	0	4	10			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:29074027T>C	ENST00000306108.5	-	5	1246	c.1223A>G	c.(1222-1224)aAa>aGa	p.K408R		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	408							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						AGATTCTACTTTTTGAGCTAA	0.378													7	39					0	0	0	0	C	29074027	T	C	29074027	3	2	197	1	0	0	0	0	1	0	0	0	16665	1841	64	5	222	5	TRMT61B	2	29074027	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	3609579	29074027	214125346	63	34784											
TTC27	55622	broad.mit.edu	37	chr2	32859031	32859031	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctgttgacttacaccctCaggactttttgtcatctgtt	6	16	6	13	0	3	1	2	1	1	0	3	2	3	2	3	1	1	2	3	1	1	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:32859031C>G	ENST00000317907.4	+	3	586	c.355C>G	c.(355-357)Cag>Gag	p.Q119E		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	119							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CTTACACCCTCAGGACTTTTT	0.363													23	64					0	0	0	0	G	32859031	C	G	32859031	3	3	197	1	0	0	0	0	1	0	0	0	16791	827	29	2	365	2	TTC27	2	32859031	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3785004	32859031	210340342	64	34785											
LTBP1	4052	broad.mit.edu	37	chr2	33246136	33246136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggggctgcttcctcgtgGggccctcctgagcaagcagc	4	8	14	15	1	0	1	0	1	0	0	3	1	2	1	4	4	4	4	4	4	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:33246136G>T	ENST00000404816.2	+	3	1079	c.726G>T	c.(724-726)tgG>tgT	p.W242C	LTBP1_ENST00000354476.3_Missense_Mutation_p.W242C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	242					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTTCCTCGTGGGGCCCTCCTG	0.562													65	83					6.1719e-39	9.8724e-39	1	0	T	33246136	G	T	33246136	3	4	197	1	0	0	0	0	1	0	0	0	9137	1241	43	4	736	4	LTBP1	2	33246136	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	387105	33246136	209953237	65	34786											
SPRED2	200734	broad.mit.edu	37	chr2	65540979	65540979	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtacacgcaccgcgagcgctCtccgtcctccttccgccgcc	4	7	9	21	7	1	0	0	0	1	0	5	1	4	0	7	0	2	3	7	0	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:65540979C>G	ENST00000356388.4	-	6	1102	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	SPRED2_ENST00000443619.2_Missense_Mutation_p.E302Q	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	305					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CGCGAGCGCTCTCCGTCCTCC	0.682													20	94					0	0	0	0	G	65540979	C	G	65540979	3	3	197	1	0	0	0	0	1	0	0	0	15183	922	32	2	347	2	SPRED2	2	65540979	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	32294843	65540979	177658394	66	34787											
SMYD5	10322	broad.mit.edu	37	chr2	73446061	73446061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaacggcccctggtggctGcacagtttctctggaatgca	8	10	12	11	1	1	1	0	0	1	1	2	2	1	2	2	4	3	4	2	4	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:73446061G>T	ENST00000389501.4	+	2	214	c.169G>T	c.(169-171)Gca>Tca	p.A57S	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	57							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CCTGGTGGCTGCACAGTTTCT	0.557													17	44					2.37509e-13	3.14017e-13	1	0	T	73446061	G	T	73446061	3	4	197	1	0	0	0	0	1	0	0	0	14913	1319	46	4	175	4	SMYD5	2	73446061	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	7905082	73446061	169753312	67	34788											
LOXL3	84695	broad.mit.edu	37	chr2	74763195	74763195	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtgaacaatcctcagcTgtgatgttcttgtgggggca	8	13	12	8	0	2	2	1	2	1	0	3	2	3	2	1	2	2	3	1	2	3	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:74763195T>A	ENST00000264094.3	-	7	1247	c.1176A>T	c.(1174-1176)acA>acT	p.T392T	LOXL3_ENST00000409986.1_Silent_p.T247T|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Silent_p.T392T|LOXL3_ENST00000393937.2_Silent_p.T247T	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	392	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AATCCTCAGCTGTGATGTTCT	0.567													39	46					0	0	0	0	A	74763195	T	A	74763195	2	1	197	1	0	0	0	0	0	0	0	1	8965	1567	55	5		5	LOXL3	2	74763195	Silent	SNP	T	TCGA-CR-7370-01A-11D-2129-08	1317134	74763195	168436178	68	34789											
REG1A	5967	broad.mit.edu	37	chr2	79349979	79349979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctagaaccgccgctggCactggagcagtgggtccctg	7	7	13	14	2	1	1	0	0	1	1	2	2	2	2	4	3	2	3	4	3	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:79349979C>T	ENST00000233735.1	+	5	437	c.334C>T	c.(334-336)Cac>Tac	p.H112Y		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	112	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCGCCGCTGGCACTGGAGCAG	0.557													34	120					0	0	0	0	T	79349979	C	T	79349979	3	4	197	1	0	0	0	0	1	0	0	0	13292	710	25	4	348	4	REG1A	2	79349979	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4586784	79349979	163849394	69	34790											
PROM2	150696	broad.mit.edu	37	chr2	95952298	95952298	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttcaccaggagaaggtCgtcccccagcagagccttgt	10	7	10	14	1	1	2	1	0	0	2	3	3	2	2	5	2	3	1	5	2	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:95952298C>A	ENST00000317620.9	+	17	2152	c.2019C>A	c.(2017-2019)gtC>gtA	p.V673V	PROM2_ENST00000542147.1_Silent_p.V624V|PROM2_ENST00000317668.4_Silent_p.V673V|PROM2_ENST00000403131.2_Silent_p.V673V	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	673						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGGAGAAGGTCGTCCCCCAGC	0.612													34	44					2.87052e-16	3.93446e-16	1	0	A	95952298	C	A	95952298	2	1	197	1	0	0	0	0	0	0	0	1	12636	871	31	3		3	PROM2	2	95952298	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	16602319	95952298	147247075	70	34791											
AFF3	3899	broad.mit.edu	37	chr2	100623731	100623731	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgctacagatagacgaGggctggttctgggctcttga	8	11	15	7	1	2	3	0	1	2	2	2	4	2	3	0	3	2	5	0	3	3	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:100623731G>A	ENST00000317233.4	-	5	601	c.366C>T	c.(364-366)ccC>ccT	p.P122P	AFF3_ENST00000409236.1_Silent_p.P122P|AFF3_ENST00000356421.2_Silent_p.P147P|AFF3_ENST00000409579.1_Silent_p.P147P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	122					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGATAGACGAGGGCTGGTTCT	0.537													41	58					0	0	0	0	A	100623731	G	A	100623731	2	1	197	1	0	0	0	0	0	0	0	1	358	987	35	4		4	AFF3	2	100623731	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	4671433	100623731	142575642	71	34792											
CCDC138	165055	broad.mit.edu	37	chr2	109408221	109408221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattatagagttagtacctcGaaaataaccaagcagtcttt	15	12	7	7	1	1	1	0	0	1	1	2	3	1	1	2	0	3	3	2	0	8	6	rs36034137	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:109408221G>A	ENST00000295124.4	+	4	417	c.357G>A	c.(355-357)tcG>tcA	p.S119S	CCDC138_ENST00000412964.2_Silent_p.S119S|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	119										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TTAGTACCTCGAAAATAACCA	0.284													18	101					0	0	0	0	A	109408221	G	A	109408221	2	1	197	1	0	0	0	0	0	0	0	1	2797	1045	37	1		1	CCDC138	2	109408221	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	8784490	109408221	133791152	72	34793											
DPP10	57628	broad.mit.edu	37	chr2	116598360	116598360	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacactcagcagaattaatCaagcacctaataaaagctgg	18	7	6	10	0	2	1	2	0	0	1	2	1	2	1	1	1	4	3	1	1	7	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:116598360C>G	ENST00000410059.1	+	25	2697	c.2217C>G	c.(2215-2217)atC>atG	p.I739M	DPP10_ENST00000409163.1_Missense_Mutation_p.I689M|DPP10_ENST00000393147.2_Missense_Mutation_p.I743M|DPP10_ENST00000310323.8_Missense_Mutation_p.I732M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	739					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGAATTAATCAAGCACCTAA	0.343													37	52					0	0	0	0	G	116598360	C	G	116598360	3	3	197	1	0	0	0	0	1	0	0	0	4763	816	29	2	2486	2	DPP10	2	116598360	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	7190139	116598360	126601013	73	34794											
GLI2	2736	broad.mit.edu	37	chr2	121555035	121555035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcagcagcggtagctGcccaaggaggtactttctgt	8	8	14	11	2	1	0	0	0	1	0	1	1	1	1	1	4	6	6	1	4	3	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:121555035G>A	ENST00000452319.1	+	2	199	c.139G>A	c.(139-141)Gcc>Acc	p.A47T	GLI2_ENST00000361492.4_Missense_Mutation_p.A47T|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	47					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)				AGCGGTAGCTGCCCAAGGAGG	0.572													29	66					0	0	0	0	A	121555035	G	A	121555035	3	1	197	1	0	0	0	0	1	0	0	0	6489	1319	46	4	141	4	GLI2	2	121555035	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	4956675	121555035	121644338	74	34795											
R3HDM1	23518	broad.mit.edu	37	chr2	136467633	136467633	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattctgattttcagctggAccaccaccgccacctggtgg	9	10	9	13	1	2	1	1	1	1	0	2	2	2	2	5	3	1	1	5	3	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:136467633A>G	ENST00000264160.4	+	22	2833	c.2463A>G	c.(2461-2463)ggA>ggG	p.G821G	R3HDM1_ENST00000329971.3_Silent_p.G692G|R3HDM1_ENST00000409606.1_Silent_p.G822G|R3HDM1_ENST00000409478.1_Silent_p.G693G|R3HDM1_ENST00000410054.1_Silent_p.G766G	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	821							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTTCAGCTGGACCACCACCGC	0.443											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	73					0	0	0	0	G	136467633	A	G	136467633	2	3	197	1	0	0	0	0	0	0	0	1	12969	262	10	5		5	R3HDM1	2	136467633	Silent	SNP	A	TCGA-CR-7370-01A-11D-2129-08	14912598	136467633	106731740	75	34796											
LCT	3938	broad.mit.edu	37	chr2	136566979	136566979	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgggaaaatccgagaccAggagatagagaagcggtagg	15	5	16	5	2	0	3	0	0	0	3	1	7	1	4	2	4	1	2	2	4	5	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:136566979A>T	ENST00000264162.2	-	8	2948	c.2938T>A	c.(2938-2940)Tgg>Agg	p.W980R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	980	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATCCGAGACCAGGAGATAGAG	0.498													40	50					0	0	0	0	T	136566979	A	T	136566979	3	4	197	1	0	0	0	0	1	0	0	0	8746	188	7	5	2885	5	LCT	2	136566979	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	99346	136566979	106632394	76	34797											
UPP2	151531	broad.mit.edu	37	chr2	158962720	158962720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctaccagcaatgtttggaGatgtaaaggtaaaaacattt	16	11	8	6	0	0	1	0	0	0	1	0	2	0	1	2	2	3	4	2	2	7	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:158962720G>C	ENST00000605860.1	+	5	389	c.343G>C	c.(343-345)Gat>Cat	p.D115H	UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000005756.4_Missense_Mutation_p.D58H|UPP2_ENST00000409859.4_Missense_Mutation_p.D115H			O95045	UPP2_HUMAN	uridine phosphorylase 2	58					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						AATGTTTGGAGATGTAAAGGT	0.328													15	27					0	0	0	0	C	158962720	G	C	158962720	3	2	197	1	0	0	0	0	1	0	0	0	17109	942	33	2	357	2	UPP2	2	158962720	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	22395741	158962720	84236653	77	34798											
BAZ2B	29994	broad.mit.edu	37	chr2	160257124	160257124	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctacctctagaatttgctGagctcgaagttctttttcca	8	17	6	10	1	3	2	0	1	3	1	5	3	4	2	2	0	3	3	2	0	4	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:160257124G>A	ENST00000392783.2	-	17	3379	c.2884C>T	c.(2884-2886)Cag>Tag	p.Q962*	BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.Q862*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.Q928*|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.Q926*|AC008277.1_ENST00000594921.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	962	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGAATTTGCTGAGCTCGAAGT	0.264													11	26					0	0	0	0	A	160257124	G	A	160257124	4	1	197	1	0	0	0	0	0	1	0	0	1336	1299	45	2	3706	2	BAZ2B	2	160257124	Nonsense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1294404	160257124	82942249	78	34799											
FIGN	55137	broad.mit.edu	37	chr2	164466811	164466811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtcagtccactgaacgCgtctgacctcaacactggcc	8	7	10	16	3	3	2	2	2	1	0	4	2	4	2	4	2	2	0	4	2	2	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:164466811C>A	ENST00000333129.3	-	3	1845	c.1531G>T	c.(1531-1533)Gcg>Tcg	p.A511S	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	511						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCACTGAACGCGTCTGACCTC	0.532													54	60					9.10829e-22	1.34464e-21	1	0	A	164466811	C	A	164466811	3	1	197	1	0	0	0	0	1	0	0	0	5936	768	27	3	752	3	FIGN	2	164466811	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4209687	164466811	78732562	79	34800											
SCN3A	6328	broad.mit.edu	37	chr2	165956828	165956828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccctcatgccttcaaacCgggataaggctcttagaggt	10	11	9	11	1	3	1	2	0	1	1	3	2	3	2	3	3	3	1	3	3	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:165956828C>A	ENST00000360093.3	-	22	4441	c.3950G>T	c.(3949-3951)cGg>cTg	p.R1317L	SCN3A_ENST00000409101.3_Missense_Mutation_p.R1268L|SCN3A_ENST00000283254.7_Missense_Mutation_p.R1317L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1317						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GCCTTCAAACCGGGATAAGGC	0.403													39	56					6.33695e-27	9.76021e-27	1	0	A	165956828	C	A	165956828	3	1	197	1	0	0	0	0	1	0	0	0	14005	652	23	3	2080	3	SCN3A	2	165956828	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1490017	165956828	77242545	80	34801											
SCRN3	79634	broad.mit.edu	37	chr2	175287708	175287708	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccactgcaagcatggttTctattttacctcaagactcc	10	13	6	12	0	2	2	1	1	1	1	3	2	3	2	3	1	3	3	3	1	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:175287708T>A	ENST00000272732.6	+	6	932	c.850T>A	c.(850-852)Tct>Act	p.S284T	SCRN3_ENST00000409673.3_Missense_Mutation_p.S277T|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	284					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AAGCATGGTTTCTATTTTACC	0.408													42	46					0	0	0	0	A	175287708	T	A	175287708	3	1	197	1	0	0	0	0	1	0	0	0	14027	1783	62	5	868	5	SCRN3	2	175287708	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	9330880	175287708	67911665	81	34802											
TTN	7273	broad.mit.edu	37	chr2	179401131	179401131	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcactgaaaagacagtttctCgaatttcttctgttgtcaca	11	15	6	9	1	5	2	2	1	3	1	6	3	5	2	0	0	0	2	0	0	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179401131C>G	ENST00000589042.1	-	357	100567	c.100343G>C	c.(100342-100344)cGa>cCa	p.R33448P	TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R30880P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24383P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24508P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R31807P|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24575P|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31807							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)			GACAGTTTCTCGAATTTCTTC	0.388													23	61					0	0	0	0	G	179401131	C	G	179401131	3	3	197	1	0	0	0	0	1	0	0	0	16831	884	31	3	7660	3	TTN	2	179401131	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4113423	179401131	63798242	82	34803											
TTN	7273	broad.mit.edu	37	chr2	179412806	179412806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggccttcacacggaattCatattcagttttctcaacaa	11	14	5	11	1	4	0	4	0	1	0	5	1	4	1	1	2	1	1	1	2	4	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179412806C>T	ENST00000589042.1	-	339	93771	c.93547G>A	c.(93547-93549)Gaa>Aaa	p.E31183K	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E28615K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22118K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22243K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29542K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22310K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29542	Fibronectin type-III 127.						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)			ACACGGAATTCATATTCAGTT	0.453													93	88					0	0	0	0	T	179412806	C	T	179412806	3	4	197	1	0	0	0	0	1	0	0	0	16831	835	29	2	14528	2	TTN	2	179412806	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	11675	179412806	63786567	83	34804											
TTN	7273	broad.mit.edu	37	chr2	179439363	179439363	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtaactgcagttacctgaggGgtaccaggaggtccaggaac	11	7	14	9	0	0	1	0	1	0	0	1	3	1	3	3	5	5	4	3	5	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179439363G>T	ENST00000589042.1	-	326	71720	c.71496C>A	c.(71494-71496)acC>acA	p.T23832T	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.T21264T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.T14767T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.T14892T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.T22191T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.T14959T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22191	Fibronectin type-III 73.						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)			TTACCTGAGGGGTACCAGGAG	0.448													18	87					3.51602e-12	4.55983e-12	1	0	T	179439363	G	T	179439363	2	4	197	1	0	0	0	0	0	0	0	1	16831	1219	43	4		4	TTN	2	179439363	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	26557	179439363	63760010	84	34805											
TTN	7273	broad.mit.edu	37	chr2	179443986	179443986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactctagtgtcagttgctaGaggatcttcccctttcttcc	6	15	8	12	0	4	1	1	0	3	1	6	3	6	2	3	1	1	2	3	1	2	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179443986G>C	ENST00000589042.1	-	320	67995	c.67771C>G	c.(67771-67773)Cta>Gta	p.L22591V	RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L20023V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L13526V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L13651V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L20950V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L13718V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20950	Fibronectin type-III 64.						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)			TCAGTTGCTAGAGGATCTTCC	0.438													55	65					0	0	0	0	C	179443986	G	C	179443986	3	2	197	1	0	0	0	0	1	0	0	0	16831	933	33	2	40380	2	TTN	2	179443986	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	4623	179443986	63755387	85	34806											
TTN	7273	broad.mit.edu	37	chr2	179598401	179598401	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattttcagccaggcacgTgtatttgcctccaaaactaa	11	13	6	11	1	2	0	2	0	0	0	3	0	3	0	3	1	3	2	3	1	4	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179598401T>C	ENST00000589042.1	-	53	15939	c.15715A>G	c.(15715-15717)Acg>Gcg	p.T5239A	TTN_ENST00000342992.6_Missense_Mutation_p.T3995A|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T4922A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4922	Ig-like 33.						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)			GCCAGGCACGTGTATTTGCCT	0.383													48	119					0	0	0	0	C	179598401	T	C	179598401	3	2	197	1	0	0	0	0	1	0	0	0	16831	1696	59	5	89054	5	TTN	2	179598401	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	154415	179598401	63600972	86	34807											
TTN	7273	broad.mit.edu	37	chr2	179610817	179610817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatttcgaattttaagaGtgtgacttcccttctcctcg	9	15	7	10	2	1	3	0	1	1	2	5	4	2	3	2	0	0	0	2	0	2	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179610817G>T	ENST00000360870.5	-	46	16532	c.16310C>A	c.(16309-16311)aCt>aAt	p.T5437N	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8944	Ig-like 35.						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)			AATTTTAAGAGTGTGACTTCC	0.418													96	101					5.71645e-57	9.36445e-57	1	0	T	179610817	G	T	179610817	3	4	197	1	0	0	0	0	1	0	0	0	16831	1029	36	4	93987	4	TTN	2	179610817	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	12416	179610817	63588556	87	34808											
TTN	7273	broad.mit.edu	37	chr2	179613353	179613353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttgaccactatctaattCttggaatttcacatctgtgt	9	17	7	8	0	4	1	1	1	3	0	4	2	4	2	1	2	0	1	1	2	3	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179613353C>T	ENST00000360870.5	-	46	13996	c.13774G>A	c.(13774-13776)Gaa>Aaa	p.E4592K	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	717	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATCTAATTCTTGGAATTTC	0.318													11	234					0	0	0	0	T	179613353	C	T	179613353	3	4	197	1	0	0	0	0	1	0	0	0	16831	922	32	2	96523	2	TTN	2	179613353	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2536	179613353	63586020	88	34809											
SSFA2	6744	broad.mit.edu	37	chr2	182779977	182779977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctatggggagtagtgCtgatagttgtgacagtgaga	10	10	17	4	0	0	3	0	3	0	1	0	5	0	4	0	3	1	5	0	3	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:182779977C>T	ENST00000431877.2	+	11	1789	c.1610C>T	c.(1609-1611)gCt>gTt	p.A537V	SSFA2_ENST00000409136.1_Missense_Mutation_p.A46V|SSFA2_ENST00000409001.1_Missense_Mutation_p.A537V|SSFA2_ENST00000320370.7_Missense_Mutation_p.A537V|SSFA2_ENST00000428267.2_Missense_Mutation_p.A384V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	537						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GGGAGTAGTGCTGATAGTTGT	0.423													66	82					0	0	0	0	T	182779977	C	T	182779977	3	4	197	1	0	0	0	0	1	0	0	0	15273	797	28	4	1652	4	SSFA2	2	182779977	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3166624	182779977	60419396	89	34810											
COL5A2	1290	broad.mit.edu	37	chr2	189918902	189918902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttttctccagtaggacCtgccggacctggagggccca	7	9	11	14	1	1	0	0	0	1	0	2	3	1	3	6	4	2	1	6	4	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:189918902C>A	ENST00000374866.3	-	36	2702	c.2428G>T	c.(2428-2430)Ggt>Tgt	p.G810C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	810					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGTAGGACCTGCCGGACCT	0.393													55	71					3.63617e-18	5.08656e-18	1	0	A	189918902	C	A	189918902	3	1	197	1	0	0	0	0	1	0	0	0	3727	681	24	4	2147	4	COL5A2	2	189918902	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	7138925	189918902	53280471	90	34811											
DNAH7	56171	broad.mit.edu	37	chr2	196825030	196825030	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaggagatcctcgcatagTttgtgttttaataatatggt	12	15	10	4	1	0	1	0	0	0	1	2	3	1	1	1	2	0	3	1	2	5	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:196825030T>C	ENST00000312428.6	-	18	2945	c.2845A>G	c.(2845-2847)Act>Gct	p.T949A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	949	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTCGCATAGTTTGTGTTTTA	0.323													11	157					0	0	0	0	C	196825030	T	C	196825030	3	2	197	1	0	0	0	0	1	0	0	0	4642	1725	60	5	9421	5	DNAH7	2	196825030	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	6906128	196825030	46374343	91	34812											
CYP27A1	1593	broad.mit.edu	37	chr2	219677074	219677074	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactcgactggaccagctGcgggcagagagtgcttcggg	8	7	16	10	3	0	2	0	1	0	1	2	5	0	3	1	3	3	3	1	3	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:219677074G>T	ENST00000258415.4	+	3	1003	c.576G>T	c.(574-576)ctG>ctT	p.L192L		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	192					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TGGACCAGCTGCGGGCAGAGA	0.557													11	173					1.08611e-07	1.24819e-07	1	0	T	219677074	G	T	219677074	2	4	197	1	0	0	0	0	0	0	0	1	4190	1306	46	4		4	CYP27A1	2	219677074	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	22852044	219677074	23522299	92	34813											
SP140L	93349	broad.mit.edu	37	chr2	231248247	231248247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaaagaaggggcatggctgGagcagaatgggaacgagaac	17	3	16	5	1	0	3	0	0	0	3	0	6	0	5	0	5	3	3	0	5	6	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:231248247G>T	ENST00000243810.6	+	8	660	c.660G>T	c.(658-660)tgG>tgT	p.W220C	SP140L_ENST00000396563.4_Missense_Mutation_p.W220C|SP140L_ENST00000415673.2_Missense_Mutation_p.W220C|SP140L_ENST00000444636.1_Missense_Mutation_p.W220C			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	220						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGCATGGCTGGAGCAGAATGG	0.358													8	15					2.17888e-05	2.37263e-05	1	0	T	231248247	G	T	231248247	3	4	197	1	0	0	0	0	1	0	0	0	15051	1183	41	2	690	2	SP140L	2	231248247	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	11571173	231248247	11951126	93	34814											
ECEL1	9427	broad.mit.edu	37	chr2	233349955	233349955	+	Missense_Mutation	SNP	A	A	T																															ggtacagggtcctctctggcAgggtgagcccatcctggtca																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:233349955A>T	ENST00000304546.1	-	3	1019	c.809T>A	c.(808-810)cTg>cAg	p.L270Q	ECEL1_ENST00000409941.1_Missense_Mutation_p.L270Q	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	270					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCTCTCTGGCAGGGTGAGCCC	0.632													15	5					0	0	0	0	T	233349955	A	T	233349955	3	4	197	1	0	0	0	0	1	0	0	0	4927	188	7	5	1582	5	ECEL1	2	233349955	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	2101708	233349955	9849418	94	34815	261	2									
ECEL1	9427	broad.mit.edu	37	chr2	233349956	233349956	+	Missense_Mutation	SNP	G	G	T																															gtacagggtcctctctggcaGggtgagcccatcctggtcaa																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:233349956G>T	ENST00000304546.1	-	3	1018	c.808C>A	c.(808-810)Ctg>Atg	p.L270M	ECEL1_ENST00000409941.1_Missense_Mutation_p.L270M	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	270					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CTCTCTGGCAGGGTGAGCCCA	0.632													16	5					2.21704e-12	2.88022e-12	1	0	T	233349956	G	T	233349956	3	4	197	1	0	0	0	0	1	0	0	0	4927	991	35	4	1583	4	ECEL1	2	233349956	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1	233349956	9849417	95	34816	261	2									
KIF1A	547	broad.mit.edu	37	chr2	241661290	241661290	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgaatgtgtgcgtgagCaggcgcaagcactgtggaca	9	9	15	8	2	0	2	0	2	0	0	0	3	0	3	0	2	3	4	0	2	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:241661290C>T	ENST00000498729.2	-	44	4923	c.4677G>A	c.(4675-4677)ctG>ctA	p.L1559L	KIF1A_ENST00000320389.7_Silent_p.L1458L	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1458					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGTGCGTGAGCAGGCGCAAGC	0.657													6	2					0	0	0	0	T	241661290	C	T	241661290	2	4	197	1	0	0	0	0	0	0	0	1	8334	697	25	4		4	KIF1A	2	241661290	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	8311334	241661290	1538083	96	34817											
CNTN4	152330	broad.mit.edu	37	chr3	3081938	3081938	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagtcccaccacggtggTgtattctgcagaagaaggta	10	11	11	9	1	2	2	1	0	1	2	3	2	3	2	2	3	1	3	2	3	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:3081938T>G	ENST00000397461.1	+	19	2765	c.2381T>G	c.(2380-2382)gTg>gGg	p.V794G	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.V466G|CNTN4_ENST00000427331.1_Missense_Mutation_p.V794G|CNTN4_ENST00000397459.2_Missense_Mutation_p.V466G|CNTN4_ENST00000358480.3_Missense_Mutation_p.V575G|CNTN4_ENST00000418658.1_Missense_Mutation_p.V794G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	794	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACCACGGTGGTGTATTCTGCA	0.428													25	17					0	0	0	0	G	3081938	T	G	3081938	3	3	197	1	0	0	0	0	1	0	0	0	3673	1696	59	5	2447	5	CNTN4	3	3081938	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08		3081938	194940492	97	34818											
CHCHD4	131474	broad.mit.edu	37	chr3	14154541	14154541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcattcctgcatggccCggaactggtctacacagtct	8	10	10	13	1	2	0	0	0	2	0	3	1	3	1	2	3	4	3	2	3	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:14154541C>T	ENST00000295767.5	-	4	638	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	CHCHD4_ENST00000396914.3_Missense_Mutation_p.R92Q	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	92					protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CTGCATGGCCCGGAACTGGTC	0.517													3	45					0	0	0	0	T	14154541	C	T	14154541	3	4	197	1	0	0	0	0	1	0	0	0	3347	652	23	1	157	1	CHCHD4	3	14154541	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	11072603	14154541	183867889	98	34819											
XPC	7508	broad.mit.edu	37	chr3	14220052	14220052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcggctccccgccggccGcgcgtttccgagccatgttg	2	7	13	19	8	0	0	0	0	0	0	2	1	2	0	7	2	1	3	7	2	0	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:14220052G>C	ENST00000285021.7	-	1	231	c.17C>G	c.(16-18)gCg>gGg	p.A6G	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Missense_Mutation_p.A6G	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	6					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCGCCGGCCGCGCGTTTCCG	0.701			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	37					0	0	0	0	C	14220052	G	C	14220052	3	2	197	1	0	0	0	0	1	0	0	0	17537	1087	38	3	1818	3	XPC	3	14220052	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	65511	14220052	183802378	99	34820											
C3orf20	84077	broad.mit.edu	37	chr3	14745912	14745912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttacgaaactacaaggCaaagatgccctctcatctaa	15	9	6	11	1	3	1	1	0	3	1	4	3	3	1	1	1	4	1	1	1	6	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:14745912C>T	ENST00000253697.3	+	7	1399	c.947C>T	c.(946-948)gCa>gTa	p.A316V	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Missense_Mutation_p.A194V|C3orf20_ENST00000435614.1_Missense_Mutation_p.A194V	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	316						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AACTACAAGGCAAAGATGCCC	0.512													46	26					0	0	0	0	T	14745912	C	T	14745912	3	4	197	1	0	0	0	0	1	0	0	0	2233	710	25	4	965	4	C3orf20	3	14745912	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	525860	14745912	183276518	100	34821											
ARPP21	10777	broad.mit.edu	37	chr3	35778754	35778754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgcgaagcgccatggtggGgcagtcccaacagcagccac	9	4	13	15	2	0	0	0	0	0	0	1	1	1	0	4	3	5	2	4	3	2	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:35778754G>A	ENST00000187397.4	+	16	2000	c.1544G>A	c.(1543-1545)gGg>gAg	p.G515E	ARPP21_ENST00000444190.1_Missense_Mutation_p.G461E|ARPP21_ENST00000337271.5_Missense_Mutation_p.G461E|ARPP21_ENST00000458225.1_Missense_Mutation_p.G481E|ARPP21_ENST00000417925.1_Missense_Mutation_p.G481E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	515	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCCATGGTGGGGCAGTCCCAA	0.627													30	27					0	0	0	0	A	35778754	G	A	35778754	3	1	197	1	0	0	0	0	1	0	0	0	982	1232	43	4	1611	4	ARPP21	3	35778754	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	21032842	35778754	162243676	101	34822											
SCN11A	11280	broad.mit.edu	37	chr3	38889201	38889201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcggagggaaaggaatgtGctcctgattttccaaggtag	10	10	14	7	2	0	1	0	1	0	0	3	4	2	4	2	4	1	2	2	4	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:38889201G>T	ENST00000302328.3	-	26	4558	c.4360C>A	c.(4360-4362)Cac>Aac	p.H1454N	SCN11A_ENST00000456224.3_Missense_Mutation_p.H1416N|SCN11A_ENST00000450244.1_Missense_Mutation_p.H1454N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1454					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAAGGAATGTGCTCCTGATTT	0.502													19	10					4.30721e-22	6.3839e-22	1	0	T	38889201	G	T	38889201	3	4	197	1	0	0	0	0	1	0	0	0	14000	1319	46	4	1019	4	SCN11A	3	38889201	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	3110447	38889201	159133229	102	34823											
SCN11A	11280	broad.mit.edu	37	chr3	38951680	38951680	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttggtgtgcttacattcAtattgtatggaacaggcact	10	16	9	6	0	1	0	1	0	0	0	1	1	1	1	0	3	3	3	0	3	4	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:38951680A>T	ENST00000302328.3	-	8	1176	c.978T>A	c.(976-978)taT>taA	p.Y326*	SCN11A_ENST00000456224.3_Nonsense_Mutation_p.Y326*|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.Y326*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.Y326*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	326					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCTTACATTCATATTGTATGG	0.383													44	17					0	0	0	0	T	38951680	A	T	38951680	4	4	197	1	0	0	0	0	0	1	0	0	14000	224	8	5	4473	5	SCN11A	3	38951680	Nonsense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	62479	38951680	159070750	103	34824											
DHX30	22907	broad.mit.edu	37	chr3	47890739	47890739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcctggtggggaagccctCggactgcaccctggcctccg	4	8	13	16	2	0	0	0	0	0	0	3	2	2	2	5	5	2	1	5	5	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:47890739C>T	ENST00000446256.2	+	20	3442	c.2870C>T	c.(2869-2871)tCg>tTg	p.S957L	DHX30_ENST00000457607.1_Missense_Mutation_p.S1024L|DHX30_ENST00000445061.1_Missense_Mutation_p.S996L|DHX30_ENST00000348968.4_Missense_Mutation_p.S968L	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	996						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGGAAGCCCTCGGACTGCACC	0.597													5	54					0	0	0	0	T	47890739	C	T	47890739	3	4	197	1	0	0	0	0	1	0	0	0	4541	893	31	1	3064	1	DHX30	3	47890739	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	8939059	47890739	150131691	104	34825											
BSN	8927	broad.mit.edu	37	chr3	49690362	49690362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaccgctcctcctgctctGagtactcaccctcaccctcc	6	10	4	21	1	3	1	2	1	1	0	6	1	6	1	6	0	3	3	6	0	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:49690362G>C	ENST00000296452.4	+	5	3487	c.3373G>C	c.(3373-3375)Gag>Cag	p.E1125Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1125					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCCTGCTCTGAGTACTCACC	0.612													36	27					0	0	0	0	C	49690362	G	C	49690362	3	2	197	1	0	0	0	0	1	0	0	0	1538	1291	45	2	3391	2	BSN	3	49690362	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1799623	49690362	148332068	105	34826											
PARP3	10039	broad.mit.edu	37	chr3	51982442	51982442	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcccagagcgagtacctCatctaccaggagagccagtg	10	8	10	13	1	3	2	1	0	2	2	4	4	3	2	4	1	4	1	4	1	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:51982442C>T	ENST00000417220.2	+	12	2036	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	PARP3_ENST00000431474.1_Silent_p.L516L|PARP3_ENST00000398755.3_Silent_p.L523L|PARP3_ENST00000486510.1_3'UTR			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	516	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGAGTACCTCATCTACCAGG	0.642													38	15					0	0	0	0	T	51982442	C	T	51982442	2	4	197	1	0	0	0	0	0	0	0	1	11533	813	29	2		2	PARP3	3	51982442	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2292080	51982442	146039988	106	34827											
SFMBT1	51460	broad.mit.edu	37	chr3	52945182	52945182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagtagcccgataactCtttcctttatatctgccatt	10	15	4	12	1	3	0	1	0	2	0	4	1	4	0	3	0	4	1	3	0	5	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:52945182C>A	ENST00000394752.3	-	17	2125	c.1743G>T	c.(1741-1743)aaG>aaT	p.K581N	SFMBT1_ENST00000296295.6_Missense_Mutation_p.K581N|SFMBT1_ENST00000394750.1_Missense_Mutation_p.K581N|SFMBT1_ENST00000358080.2_Missense_Mutation_p.K581N	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	581					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CCCGATAACTCTTTCCTTTAT	0.388													41	22					1.6237e-14	2.18148e-14	1	0	A	52945182	C	A	52945182	3	1	197	1	0	0	0	0	1	0	0	0	14244	912	32	2	877	2	SFMBT1	3	52945182	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	962740	52945182	145077248	107	34828											
COL8A1	1295	broad.mit.edu	37	chr3	99513341	99513341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaccacaaggacctcCagggcctcatggacttcctg	9	6	10	16	0	1	0	1	0	0	0	3	3	3	3	6	4	0	0	6	4	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:99513341C>A	ENST00000261037.3	+	5	976	c.596C>A	c.(595-597)cCa>cAa	p.P199Q	COL8A1_ENST00000273342.4_Missense_Mutation_p.P199Q	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	199	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CAAGGACCTCCAGGGCCTCAT	0.592													23	27					2.27731e-05	2.4726e-05	1	0	A	99513341	C	A	99513341	3	1	197	1	0	0	0	0	1	0	0	0	3735	594	21	4	602	4	COL8A1	3	99513341	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	46568159	99513341	98509089	108	34829											
ABI3BP	25890	broad.mit.edu	37	chr3	100621495	100621495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttgacttggaggtggagCaggtcgcacaactatcagat	10	11	12	8	1	1	2	1	1	0	1	2	4	1	4	0	4	2	2	0	4	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:100621495C>A	ENST00000471714.1	-	3	425	c.316G>T	c.(316-318)Gct>Tct	p.A106S	ABI3BP_ENST00000495063.1_Missense_Mutation_p.A106S|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000284322.5_Missense_Mutation_p.A106S			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	106						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGAGGTGGAGCAGGTCGCACA	0.398													17	27					2.70639e-06	3.04011e-06	1	0	A	100621495	C	A	100621495	3	1	197	1	0	0	0	0	1	0	0	0	91	710	25	4	3043	4	ABI3BP	3	100621495	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1108154	100621495	97400935	109	34830											
WDR52	55779	broad.mit.edu	37	chr3	113099870	113099870	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagtggagcttcaagaataTagccattttcacagataatt	15	12	8	6	0	2	2	2	0	0	2	2	4	2	3	1	1	2	1	1	1	6	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:113099870T>C	ENST00000393845.2	-	16	1994	c.1928A>G	c.(1927-1929)tAt>tGt	p.Y643C	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000295868.2_Missense_Mutation_p.Y643C	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	643										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTCAAGAATATAGCCATTTTC	0.299													30	47					0	0	0	0	C	113099870	T	C	113099870	3	2	197	1	0	0	0	0	1	0	0	0	17400	1406	49	5	3731	5	WDR52	3	113099870	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	12478375	113099870	84922560	110	34831											
HCLS1	3059	broad.mit.edu	37	chr3	121352001	121352001	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gactctgatgatggaggagtCccaactggaggccaggcctg	9	7	15	10	0	1	2	0	2	1	0	2	6	2	5	3	5	1	0	3	5	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:121352001C>A	ENST00000314583.3	-	11	1012	c.921G>T	c.(919-921)ggG>ggT	p.G307G	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.G270G	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	307					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		ATGGAGGAGTCCCAACTGGAG	0.517													8	5					0.00307968	0.00320854	1	0	A	121352001	C	A	121352001	2	1	197	1	0	0	0	0	0	0	0	1	7045	842	30	2		2	HCLS1	3	121352001	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	8252131	121352001	76670429	111	34832											
PARP9	83666	broad.mit.edu	37	chr3	122277281	122277281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagcgaggtaatcctacCtgatttttcattgtaagctg	10	14	10	7	1	1	2	1	2	0	1	2	4	2	2	2	1	3	3	2	1	3	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:122277281C>A	ENST00000360356.2	-	3	276	c.49G>T	c.(49-51)Ggt>Tgt	p.G17C	PARP9_ENST00000477522.2_Splice_Site_p.E17_splice|PARP9_ENST00000492382.1_Splice_Site_p.D17_splice|PARP9_ENST00000471785.1_Splice_Site_p.E17_splice|PARP9_ENST00000462315.1_Splice_Site_p.E17_splice	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	17					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GTAATCCTACCTGATTTTTCA	0.423													40	42					1.07121e-22	1.60038e-22	1	0	A	122277281	C	A	122277281	3	1	197	1	0	0	0	0	1	0	0	0	11537	695	24	4	2604	4	PARP9	3	122277281	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	925280	122277281	75745149	112	34833											
KIAA1257	57501	broad.mit.edu	37	chr3	128695838	128695838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttactgaatcgtggaagaatCgtccattttgagggacttct	10	14	10	7	2	1	3	0	2	1	1	4	5	2	5	1	2	1	0	1	2	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:128695838C>T	ENST00000265068.5	-	6	1047	c.880G>A	c.(880-882)Gat>Aat	p.D294N	KIAA1257_ENST00000515659.1_Missense_Mutation_p.D182N|KIAA1257_ENST00000511438.1_Missense_Mutation_p.D294N	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	294										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GTGGAAGAATCGTCCATTTTG	0.443													18	21					0	0	0	0	T	128695838	C	T	128695838	3	4	197	1	0	0	0	0	1	0	0	0	8269	884	31	1	361	1	KIAA1257	3	128695838	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	6418557	128695838	69326592	113	34834											
DZIP1L	199221	broad.mit.edu	37	chr3	137822454	137822454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgaccacgctgctgctgGcccaggctggtctgcagccg	4	8	14	15	2	1	1	0	1	1	0	1	1	1	1	3	3	5	6	3	3	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:137822454G>A	ENST00000327532.2	-	2	722	c.360C>T	c.(358-360)ggC>ggT	p.G120G	DZIP1L_ENST00000469243.1_Silent_p.G120G	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	120						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GCTGCTGCTGGCCCAGGCTGG	0.662													10	14					0	0	0	0	A	137822454	G	A	137822454	2	1	197	1	0	0	0	0	0	0	0	1	4900	1190	42	4		4	DZIP1L	3	137822454	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	9126616	137822454	60199976	114	34835											
A4GNT	51146	broad.mit.edu	37	chr3	137850025	137850025	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaggcagctggacttcAgggtgaactggtagaggaag	13	6	17	5	0	1	4	1	1	0	3	1	6	1	6	0	5	2	3	0	5	4	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:137850025A>T	ENST00000236709.3	-	2	275	c.74T>A	c.(73-75)cTg>cAg	p.L25Q		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	25					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GCTGGACTTCAGGGTGAACTG	0.567													14	21					0	0	0	0	T	137850025	A	T	137850025	3	4	197	1	0	0	0	0	1	0	0	0	7	188	7	5	956	5	A4GNT	3	137850025	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	27571	137850025	60172405	115	34836											
TFDP2	7029	broad.mit.edu	37	chr3	141682777	141682777	+	Frame_Shift_Del	DEL	C	C	-																															gctgctcattttgtcgatttCtctgtaccaggtttttgaaa																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:141682777delC	ENST00000499676.2	-	10	1252	c.581delG	c.(580-582)aafs	p.R194fs	TFDP2_ENST00000310282.6_Frame_Shift_Del_p.R194fs|TFDP2_ENST00000479040.1_Frame_Shift_Del_p.R193fs|TFDP2_ENST00000486111.1_Frame_Shift_Del_p.R194fs|TFDP2_ENST00000397991.4_Frame_Shift_Del_p.R226fs|TFDP2_ENST00000477292.1_Frame_Shift_Del_p.R118fs|TFDP2_ENST00000489671.1_Frame_Shift_Del_p.R254fs|TFDP2_ENST00000317104.7_Frame_Shift_Del_p.R178fs|TFDP2_ENST00000467072.1_Frame_Shift_Del_p.R194fs|TFDP2_ENST00000495310.1_Frame_Shift_Del_p.R157fs	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	254					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						TTGTCGATTTCTCTGTACCAG	0.368													47	64	---	---	---	---					-	141682777	C	-	141682777	7	5	197	1	0	1	0	1	0	0	0	0	15892	913	32	0	595	0	TFDP2	3	141682777	Frame_Shift_Del	DEL	C	TCGA-CR-7370-01A-11D-2129-08	3832752	141682777	56339653	116	34837											
PLSCR4	57088	broad.mit.edu	37	chr3	145917674	145917674	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattgtcatgatttctcGgcccatacaatcagtgaccc	9	12	7	13	1	3	2	2	2	1	0	4	2	3	2	2	1	2	1	2	1	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:145917674G>A	ENST00000354952.2	-	6	790	c.550C>T	c.(550-552)Cga>Tga	p.R184*	PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000493382.1_Nonsense_Mutation_p.R184*|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000446574.2_Nonsense_Mutation_p.R184*	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	184					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						ATGATTTCTCGGCCCATACAA	0.502													15	15					0	0	0	0	A	145917674	G	A	145917674	4	1	197	1	0	0	0	0	0	1	0	0	12184	1124	39	1	455	1	PLSCR4	3	145917674	Nonsense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	4234897	145917674	52104756	117	34838											
MED12L	116931	broad.mit.edu	37	chr3	151082807	151082807	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaccatatataataacGtgatgcctgcaaattcgaac	17	9	6	9	2	0	1	0	1	0	0	1	2	0	1	2	0	6	2	2	0	7	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:151082807G>C	ENST00000474524.1	+	20	2931	c.2893G>C	c.(2893-2895)Gtg>Ctg	p.V965L	MED12L_ENST00000273432.4_Missense_Mutation_p.V825L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	965					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATATAATAACGTGATGCCTGC	0.363													68	97					0	0	0	0	C	151082807	G	C	151082807	3	2	197	1	0	0	0	0	1	0	0	0	9498	1145	40	3	2971	3	MED12L	3	151082807	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	5165133	151082807	46939623	118	34839											
PLCH1	23007	broad.mit.edu	37	chr3	155218533	155218533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccagtactctgctgtgtGtcttcctcatcatcagtact	6	16	7	12	0	5	0	3	0	2	0	6	0	6	0	2	0	4	3	2	0	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:155218533G>T	ENST00000460012.1	-	14	2022	c.1665C>A	c.(1663-1665)gaC>gaA	p.D555E	PLCH1_ENST00000334686.6_Missense_Mutation_p.D555E|PLCH1_ENST00000494598.1_Missense_Mutation_p.D573E|PLCH1_ENST00000447496.2_Missense_Mutation_p.D573E|PLCH1_ENST00000414191.1_Missense_Mutation_p.D555E|PLCH1_ENST00000340059.7_Missense_Mutation_p.D573E			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	573					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTGCTGTGTGTCTTCCTCAT	0.428													14	129					1.5739e-10	1.9595e-10	1	0	T	155218533	G	T	155218533	3	4	197	1	0	0	0	0	1	0	0	0	12109	1368	48	4	3421	4	PLCH1	3	155218533	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	4135726	155218533	42803897	119	34840											
GMPS	8833	broad.mit.edu	37	chr3	155632262	155632262	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaccctaccaatatcagAtgaagatagaaccccacgga	18	5	6	12	1	1	4	1	1	0	3	1	5	1	5	4	1	4	0	4	1	8	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:155632262A>G	ENST00000496455.1	+	8	1276	c.941A>G	c.(940-942)gAt>gGt	p.D314G	GMPS_ENST00000295920.7_Missense_Mutation_p.D215G	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	314					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAATATCAGATGAAGATAGA	0.358			T	MLL	AML								8	84					0	0	0	0	G	155632262	A	G	155632262	3	3	197	1	0	0	0	0	1	0	0	0	6549	333	12	5	971	5	GMPS	3	155632262	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	413729	155632262	42390168	120	34841											
VEPH1	79674	broad.mit.edu	37	chr3	157099093	157099093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttaatctccagcaggaGaatatggtgaaacgaatgct	13	11	10	7	1	1	2	0	1	1	1	2	4	1	2	1	2	3	3	1	2	5	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:157099093G>T	ENST00000362010.2	-	7	1286	c.979C>A	c.(979-981)Ctc>Atc	p.L327I	VEPH1_ENST00000392833.2_Missense_Mutation_p.L327I|VEPH1_ENST00000543418.1_Missense_Mutation_p.L327I|VEPH1_ENST00000392832.2_Missense_Mutation_p.L327I	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	327						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCCAGCAGGAGAATATGGTGA	0.498													42	48					3.43241e-23	5.14862e-23	1	0	T	157099093	G	T	157099093	3	4	197	1	0	0	0	0	1	0	0	0	17250	942	33	2	1554	2	VEPH1	3	157099093	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1466831	157099093	40923337	121	34842											
SI	6476	broad.mit.edu	37	chr3	164737463	164737463	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttaaatgctgtatgttccActtccccaaaaccatatata	13	13	4	11	0	0	0	0	0	0	0	2	0	2	0	4	0	2	4	4	0	8	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:164737463A>T	ENST00000264382.3	-	28	3412	c.3350T>A	c.(3349-3351)gTg>gAg	p.V1117E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1117	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTATGTTCCACTTCCCCAAA	0.438										HNSCC(35;0.089)			19	76					0	0	0	0	T	164737463	A	T	164737463	3	4	197	1	0	0	0	0	1	0	0	0	14385	159	6	5	2217	5	SI	3	164737463	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	7638370	164737463	33284967	122	34843											
SI	6476	broad.mit.edu	37	chr3	164750444	164750444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaaggtagttccttcctGatatgatgaatgtgtgcaca	10	14	10	7	0	0	3	0	3	0	0	2	3	2	3	2	1	2	4	2	1	4	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:164750444G>T	ENST00000264382.3	-	24	2664	c.2602C>A	c.(2602-2604)Cag>Aag	p.Q868K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	868	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTCCTTCCTGATATGATGAA	0.343										HNSCC(35;0.089)			16	21					2.35188e-11	2.98785e-11	1	0	T	164750444	G	T	164750444	3	4	197	1	0	0	0	0	1	0	0	0	14385	1299	45	2	2981	2	SI	3	164750444	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	12981	164750444	33271986	123	34844											
HTR3C	170572	broad.mit.edu	37	chr3	183776222	183776222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcccttccagtggacagCatgctgctgggcatggacaa	8	8	12	13	0	0	0	0	0	0	0	2	2	2	2	3	3	3	4	3	3	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:183776222C>A	ENST00000318351.1	+	6	601	c.567C>A	c.(565-567)agC>agA	p.S189R		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	189						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAGTGGACAGCATGCTGCTGG	0.567													6	90					0.00198382	0.00207842	1	0	A	183776222	C	A	183776222	3	1	197	1	0	0	0	0	1	0	0	0	7499	709	25	4	589	4	HTR3C	3	183776222	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	19025778	183776222	14246208	124	34845											
HTR3C	170572	broad.mit.edu	37	chr3	183776244	183776244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctgctgggcatggacaagGaggtgtgggagatcacagac	10	7	17	7	0	1	2	1	0	0	2	1	5	1	4	0	5	2	3	0	5	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:183776244G>A	ENST00000318351.1	+	6	623	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	197						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CATGGACAAGGAGGTGTGGGA	0.582													9	108					0	0	0	0	A	183776244	G	A	183776244	3	1	197	1	0	0	0	0	1	0	0	0	7499	1175	41	2	611	2	HTR3C	3	183776244	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	22	183776244	14246186	125	34846											
MASP1	5648	broad.mit.edu	37	chr3	186944202	186944202	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactcactcacccaggatGattttgaagtcagaagggct	11	10	9	11	0	4	3	4	2	0	1	4	4	4	4	1	2	0	1	1	2	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:186944202G>T	ENST00000337774.5	-	12	1937	c.1548C>A	c.(1546-1548)atC>atA	p.I516I		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	516	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CACCCAGGATGATTTTGAAGT	0.567													6	21					5.9392e-07	6.74253e-07	1	0	T	186944202	G	T	186944202	2	4	197	1	0	0	0	0	0	0	0	1	9391	1280	45	2		2	MASP1	3	186944202	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	3167958	186944202	11078228	126	34847											
ATP13A5	344905	broad.mit.edu	37	chr3	193042775	193042775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatggcacagcctggcCtgaggcaaagctgtgggctt	7	8	14	12	0	0	1	0	1	0	0	1	1	1	1	3	4	2	5	3	4	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:193042775C>A	ENST00000342358.4	-	14	1669	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	518					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)		ACAGCCTGGCCTGAGGCAAAG	0.502													36	284					2.42023e-17	3.3418e-17	1	0	A	193042775	C	A	193042775	3	1	197	1	0	0	0	0	1	0	0	0	1131	681	24	4	2170	4	ATP13A5	3	193042775	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	6098573	193042775	4979655	127	34848											
ATP13A3	79572	broad.mit.edu	37	chr3	194149602	194149602	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accactaccaaaatgattgcCagatcaatgaagagaaactg	18	7	7	9	0	1	4	1	2	0	2	1	5	1	4	3	0	3	0	3	0	6	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:194149602C>T	ENST00000439040.1	-	28	3710	c.2919G>A	c.(2917-2919)ctG>ctA	p.L973L	ATP13A3_ENST00000256031.4_Silent_p.L973L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	973					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAATGATTGCCAGATCAATGA	0.274													12	94					0	0	0	0	T	194149602	C	T	194149602	2	4	197	1	0	0	0	0	0	0	0	1	1129	581	21	4		4	ATP13A3	3	194149602	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1106827	194149602	3872828	128	34849											
TMEM44	93109	broad.mit.edu	37	chr3	194344010	194344010	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggcagcaacgctaccCagcaggtagccgaggatctc	12	4	11	14	2	1	0	0	0	1	0	2	2	1	1	3	3	5	5	3	3	4	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:194344010C>A	ENST00000392432.2	-	5	760	c.555G>T	c.(553-555)ctG>ctT	p.L185L	TMEM44_ENST00000347147.4_Silent_p.L185L|TMEM44_ENST00000273580.7_Silent_p.L185L|TMEM44_ENST00000381975.3_Silent_p.L185L|TMEM44_ENST00000330115.3_Silent_p.L82L|TMEM44_ENST00000473092.1_Silent_p.L185L	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	185						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CAACGCTACCCAGCAGGTAGC	0.572													28	17					4.15321e-07	4.72934e-07	1	0	A	194344010	C	A	194344010	2	1	197	1	0	0	0	0	0	0	0	1	16262	581	21	4		4	TMEM44	3	194344010	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	194408	194344010	3678420	129	34850											
MUC4	4585	broad.mit.edu	37	chr3	195479980	195479980	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcggctgtcagtgaaGgctggggggcaggtgcacat	9	6	18	8	1	1	1	1	1	0	0	1	1	1	1	0	6	3	5	0	6	2	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:195479980G>A	ENST00000463781.3	-	20	15909	c.15450C>T	c.(15448-15450)gcC>gcT	p.A5150A	MUC4_ENST00000475231.1_Silent_p.A5098A|MUC4_ENST00000349607.4_Silent_p.A863A|MUC4_ENST00000346145.4_Silent_p.A914A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1907					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCAGTGAAGGCTGGGGGGC	0.592													77	191					0	0	0	0	A	195479980	G	A	195479980	2	1	197	1	0	0	0	0	0	0	0	1	10048	987	35	4		4	MUC4	3	195479980	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1135970	195479980	2542450	130	34851											
LMLN	89782	broad.mit.edu	37	chr3	197707351	197707351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcttatgcagcctattGtcagcaggaagcaaacatgg	12	10	9	10	0	2	0	1	0	1	0	3	1	2	1	1	2	5	3	1	2	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:197707351G>A	ENST00000330198.4	+	6	726	c.704G>A	c.(703-705)tGt>tAt	p.C235Y	LMLN_ENST00000332636.5_Missense_Mutation_p.C183Y|LMLN_ENST00000482695.1_Missense_Mutation_p.C183Y|LMLN_ENST00000420910.2_Missense_Mutation_p.C235Y	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	235					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GCAGCCTATTGTCAGCAGGAA	0.433													13	277					0	0	0	0	A	197707351	G	A	197707351	3	1	197	1	0	0	0	0	1	0	0	0	8902	1377	48	4	726	4	LMLN	3	197707351	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2227371	197707351	315079	131	34852											
CWH43	80157	broad.mit.edu	37	chr4	49000563	49000563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtttgatctggtgggttaCaggtatgtggaatttacctg	7	16	14	4	0	1	1	0	1	1	0	1	2	1	2	1	5	2	3	1	5	4	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:49000563C>T	ENST00000226432.4	+	6	983	c.800C>T	c.(799-801)aCa>aTa	p.T267I	CWH43_ENST00000513409.1_Missense_Mutation_p.T240I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	267					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGGTGGGTTACAGGTATGTGG	0.453													48	20					0	0	0	0	T	49000563	C	T	49000563	3	4	197	1	0	0	0	0	1	0	0	0	4105	478	17	4	822	4	CWH43	4	49000563	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08		49000563	142153713	132	34853											
EXOC1	55763	broad.mit.edu	37	chr4	56744196	56744196	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctgatggagtggctaaaGagtacagattatggaaaata	17	9	12	3	0	0	3	0	1	0	2	0	5	0	5	0	3	2	3	0	3	8	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:56744196G>A	ENST00000381295.2	+	9	1536	c.1188G>A	c.(1186-1188)aaG>aaA	p.K396K	EXOC1_ENST00000349598.6_Silent_p.K396K|EXOC1_ENST00000346134.7_Silent_p.K396K	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	396					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGTGGCTAAAGAGTACAGATT	0.383													46	31					0	0	0	0	A	56744196	G	A	56744196	2	1	197	1	0	0	0	0	0	0	0	1	5338	933	33	2		2	EXOC1	4	56744196	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	7743633	56744196	134410080	133	34854											
NUP54	53371	broad.mit.edu	37	chr4	77039260	77039260	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgcatttagttcaccctGaatcgtatccagctgaactc	10	12	8	11	1	1	2	1	2	0	0	4	2	2	2	2	1	3	4	2	1	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:77039260G>A	ENST00000264883.3	-	10	1392	c.1252C>T	c.(1252-1254)Cag>Tag	p.Q418*	NUP54_ENST00000514987.1_Nonsense_Mutation_p.Q370*|NUP54_ENST00000458189.2_Nonsense_Mutation_p.Q238*|NUP54_ENST00000342467.6_Nonsense_Mutation_p.Q202*	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	418	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AGTTCACCCTGAATCGTATCC	0.383													10	55					0	0	0	0	A	77039260	G	A	77039260	4	1	197	1	0	0	0	0	0	1	0	0	10838	1299	45	2	283	2	NUP54	4	77039260	Nonsense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	20295064	77039260	114115016	134	34855											
GRID2	2895	broad.mit.edu	37	chr4	94377028	94377028	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtctactggtctacctcttGaactggcttaatcccccacg	7	12	8	14	1	3	1	0	1	3	0	4	1	4	1	3	3	3	1	3	3	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:94377028G>C	ENST00000282020.4	+	11	2019	c.1761G>C	c.(1759-1761)ttG>ttC	p.L587F	GRID2_ENST00000510992.1_Missense_Mutation_p.L492F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	587					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCTACCTCTTGAACTGGCTTA	0.453													8	74					0	0	0	0	C	94377028	G	C	94377028	3	2	197	1	0	0	0	0	1	0	0	0	6822	1281	45	2	1803	2	GRID2	4	94377028	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	17337768	94377028	96777248	135	34856											
PDHA2	5161	broad.mit.edu	37	chr4	96762223	96762223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgagaagaaattcaggaaGtaagaagtaagagggatcct	18	6	12	5	1	1	4	1	0	0	4	2	7	2	6	1	2	0	2	1	2	6	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:96762223G>A	ENST00000295266.4	+	1	985	c.922G>A	c.(922-924)Gta>Ata	p.V308I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	308					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AATTCAGGAAGTAAGAAGTAA	0.438													38	22					0	0	0	0	A	96762223	G	A	96762223	3	1	197	1	0	0	0	0	1	0	0	0	11736	1029	36	4	924	4	PDHA2	4	96762223	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2385195	96762223	94392053	136	34857											
DDIT4L	115265	broad.mit.edu	37	chr4	101111077	101111077	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctctctgggtgatagcCacagtccagcaattctgaaa	11	9	10	11	0	2	2	0	2	2	0	4	2	3	2	2	2	2	2	2	2	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:101111077C>A	ENST00000273990.2	-	2	278	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C	RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	22					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		GGGTGATAGCCACAGTCCAGC	0.592													27	16					1.08312e-15	1.47914e-15	1	0	A	101111077	C	A	101111077	3	1	197	1	0	0	0	0	1	0	0	0	4364	594	21	4	525	4	DDIT4L	4	101111077	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4348854	101111077	90043199	137	34858											
ANK2	287	broad.mit.edu	37	chr4	114238907	114238907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctcacactctgagccatgCctcctacctgagggacagtg	8	9	10	14	0	2	2	1	2	2	0	4	3	3	3	4	1	3	0	4	1	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:114238907C>T	ENST00000357077.4	+	25	2791	c.2738C>T	c.(2737-2739)gCc>gTc	p.A913V	ANK2_ENST00000506722.1_Missense_Mutation_p.A892V|ANK2_ENST00000394537.3_Missense_Mutation_p.A913V|ANK2_ENST00000509550.1_Missense_Mutation_p.A122V|ANK2_ENST00000264366.6_Missense_Mutation_p.A913V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	913					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGAGCCATGCCTCCTACCTG	0.527													26	18					0	0	0	0	T	114238907	C	T	114238907	3	4	197	1	0	0	0	0	1	0	0	0	621	739	26	4	2861	4	ANK2	4	114238907	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	13127830	114238907	76915369	138	34859											
ANK2	287	broad.mit.edu	37	chr4	114275560	114275560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaaaacacccgccagtatCgcctgggagaacagaaaaac	18	3	9	11	2	0	3	0	0	0	3	1	4	0	3	3	1	3	1	3	1	6	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:114275560C>T	ENST00000357077.4	+	38	5839	c.5786C>T	c.(5785-5787)tCg>tTg	p.S1929L	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1896L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1896	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S1929L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCGCCAGTATCGCCTGGGAGA	0.522													12	27					0	0	0	0	T	114275560	C	T	114275560	3	4	197	1	0	0	0	0	1	0	0	0	621	893	31	1	6001	1	ANK2	4	114275560	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	36653	114275560	76878716	139	34860											
TNIP3	79931	broad.mit.edu	37	chr4	122075747	122075747	+	Nonsense_Mutation	SNP	C	C	A																															acattcgtaatgttccttttCcttgttcgcaagagtatttt																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:122075747C>A	ENST00000454328.1	-	7	678	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	TNIP3_ENST00000507879.1_Nonsense_Mutation_p.E221*|TNIP3_ENST00000057513.3_Nonsense_Mutation_p.E151*|TNIP3_ENST00000509841.1_Nonsense_Mutation_p.E228*			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	151										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TGTTCCTTTTCCTTGTTCGCA	0.343													19	14					4.96729e-08	5.79776e-08	1	0	A	122075747	C	A	122075747	4	1	197	1	0	0	0	0	0	1	0	0	16410	864	30	2	554	2	TNIP3	4	122075747	Nonsense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	7800187	122075747	69078529	140	34861	262	2									
TNIP3	79931	broad.mit.edu	37	chr4	122075748	122075748	+	Missense_Mutation	SNP	C	C	A																															cattcgtaatgttccttttcCttgttcgcaagagtattttt																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:122075748C>A	ENST00000454328.1	-	7	677	c.450G>T	c.(448-450)aaG>aaT	p.K150N	TNIP3_ENST00000507879.1_Missense_Mutation_p.K220N|TNIP3_ENST00000057513.3_Missense_Mutation_p.K150N|TNIP3_ENST00000509841.1_Missense_Mutation_p.K227N			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	150										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTTCCTTTTCCTTGTTCGCAA	0.348													17	14					3.52763e-06	3.93305e-06	1	0	A	122075748	C	A	122075748	3	1	197	1	0	0	0	0	1	0	0	0	16410	680	24	4	555	4	TNIP3	4	122075748	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1	122075748	69078528	141	34862	262	2									
ANKRD50	57182	broad.mit.edu	37	chr4	125591844	125591844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttcaataagtgcttcaCatatcaatctgtgcccttca	10	15	5	11	0	5	0	4	0	1	0	5	0	5	0	1	0	2	2	1	0	4	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:125591844C>T	ENST00000504087.1	-	4	3625	c.2588G>A	c.(2587-2589)tGt>tAt	p.C863Y	ANKRD50_ENST00000515641.1_Missense_Mutation_p.C684Y	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	863										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAGTGCTTCACATATCAATCT	0.408													63	29					0	0	0	0	T	125591844	C	T	125591844	3	4	197	1	0	0	0	0	1	0	0	0	676	478	17	4	1705	4	ANKRD50	4	125591844	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3516096	125591844	65562432	142	34863											
FAT4	79633	broad.mit.edu	37	chr4	126336137	126336137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaaagtcctaaaagctttgGatcgggaaagtcagtccttc	12	11	9	9	1	2	0	2	0	0	0	6	2	4	2	2	2	1	1	2	2	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:126336137G>T	ENST00000394329.3	+	5	6032	c.6019G>T	c.(6019-6021)Gat>Tat	p.D2007Y	FAT4_ENST00000335110.5_Missense_Mutation_p.D305Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2007	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAAAGCTTTGGATCGGGAAAG	0.443													75	48					2.15109e-50	3.50843e-50	1	0	T	126336137	G	T	126336137	3	4	197	1	0	0	0	0	1	0	0	0	5737	1174	41	2	6037	2	FAT4	4	126336137	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	744293	126336137	64818139	143	34864											
INTU	27152	broad.mit.edu	37	chr4	128637585	128637585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgttctttgggttaacCttgtagctgtgctttcttga	7	19	9	6	0	2	1	0	1	2	0	2	1	2	1	1	1	3	5	1	1	3	8			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:128637585C>T	ENST00000335251.5	+	16	2926	c.2823C>T	c.(2821-2823)acC>acT	p.T941T		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	941										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTGGGTTAACCTTGTAGCTGT	0.358													22	17					0	0	0	0	T	128637585	C	T	128637585	2	4	197	1	0	0	0	0	0	0	0	1	7839	668	24	4		4	INTU	4	128637585	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2301448	128637585	62516691	144	34865											
LRAT	9227	broad.mit.edu	37	chr4	155665906	155665906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcaacgaggaggtggcgcGgagggctgaaaagctgctgg	9	5	19	8	3	1	1	1	1	0	0	1	4	1	3	0	6	3	4	0	6	3	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:155665906G>A	ENST00000336356.3	+	2	681	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	LRAT_ENST00000507827.1_Missense_Mutation_p.R143Q	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	143					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GAGGTGGCGCGGAGGGCTGAA	0.582													33	19					0	0	0	0	A	155665906	G	A	155665906	3	1	197	1	0	0	0	0	1	0	0	0	8994	1116	39	1	430	1	LRAT	4	155665906	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	27028321	155665906	35488370	145	34866											
TDO2	6999	broad.mit.edu	37	chr4	156831334	156831334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgctacttaaatctgagCaggaaaagacacttctggaa	16	9	8	8	0	2	2	0	1	2	1	2	4	2	4	0	2	4	2	0	2	7	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:156831334C>A	ENST00000536354.2	+	6	653	c.589C>A	c.(589-591)Cag>Aag	p.Q197K		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	197					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TAAATCTGAGCAGGAAAAGAC	0.328													34	26					3.2961e-07	3.75906e-07	1	0	A	156831334	C	A	156831334	3	1	197	1	0	0	0	0	1	0	0	0	15821	711	25	4	611	4	TDO2	4	156831334	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1165428	156831334	34322942	146	34867											
FAT1	2195	broad.mit.edu	37	chr4	187629115	187629116	+	Frame_Shift_Del	DEL	CC	CC	-																															cgatcgctttaatgacaataCccccgagttggggtttaaac																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:187629115_187629116delCC	ENST00000441802.2	-	2	2075_2076	c.1866_1867delGG	c.(1864-1869)ggtafs	p.GV622fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	622	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATGACAATACCCCCGAGTTGG	0.426										HNSCC(5;0.00058)			29	27	---	---	---	---					-	187629116	CC	-	187629115	7	5	197	1	0	1	0	1	0	0	0	0	5734	507	18	0	12003	0	FAT1	4	187629115	Frame_Shift_Del	DEL	CC	TCGA-CR-7370-01A-11D-2129-08	30797781	187629115	3525161	147	34868											
FRG1	2483	broad.mit.edu	37	chr4	190878615	190878615	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaatgaagcaggggacatAgaagcaaaaagtaaaacagc	20	4	11	6	0	0	2	0	1	0	1	0	3	0	3	0	2	5	4	0	2	8	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:190878615A>T	ENST00000226798.4	+	6	717	c.495A>T	c.(493-495)atA>atT	p.I165I	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	165					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CAGGGGACATAGAAGCAAAAA	0.378													22	113					0	0	0	0	T	190878615	A	T	190878615	2	4	197	1	0	0	0	0	0	0	0	1	6094	410	15	5		5	FRG1	4	190878615	Silent	SNP	A	TCGA-CR-7370-01A-11D-2129-08	3249500	190878615	275661	148	34869											
TPPP	11076	broad.mit.edu	37	chr5	677917	677917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggtcacgttcctgccgtCgatcacctggcagtccttgc	5	10	11	15	4	2	0	2	0	0	0	5	2	4	0	4	2	2	2	4	2	0	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:677917C>A	ENST00000360578.5	-	2	380	c.259G>T	c.(259-261)Gac>Tac	p.D87Y		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	87	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TTCCTGCCGTCGATCACCTGG	0.642													33	56					8.4185e-14	1.12097e-13	1	0	A	677917	C	A	677917	3	1	197	1	0	0	0	0	1	0	0	0	16508	884	31	3	412	3	TPPP	5	677917	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08		677917	180237343	149	34870											
NSUN2	54888	broad.mit.edu	37	chr5	6609987	6609987	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagattttttcaccaatacTgccacaaaaaaccctccagt	15	10	4	12	0	1	1	1	0	0	1	2	2	2	1	4	0	3	0	4	0	6	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:6609987T>A	ENST00000264670.6	-	12	1586	c.1275A>T	c.(1273-1275)gcA>gcT	p.A425A	NSUN2_ENST00000539938.1_Silent_p.A189A|NSUN2_ENST00000506139.1_Silent_p.A390A	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	425						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCACCAATACTGCCACAAAAA	0.328													35	40					0	0	0	0	A	6609987	T	A	6609987	2	1	197	1	0	0	0	0	0	0	0	1	10749	1567	55	5		5	NSUN2	5	6609987	Silent	SNP	T	TCGA-CR-7370-01A-11D-2129-08	5932070	6609987	174305273	150	34871											
FASTKD3	79072	broad.mit.edu	37	chr5	7867502	7867502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagttctagtgtcacacaaCctgaactgtgcagtgtaatc	11	12	9	9	0	2	2	1	2	1	0	3	2	2	2	1	0	3	3	1	0	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:7867502C>T	ENST00000264669.5	-	2	831	c.695G>A	c.(694-696)gGt>gAt	p.G232D	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	232					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGTCACACAACCTGAACTGTG	0.418													22	74					0	0	0	0	T	7867502	C	T	7867502	3	4	197	1	0	0	0	0	1	0	0	0	5732	507	18	4	1317	4	FASTKD3	5	7867502	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1257515	7867502	173047758	151	34872											
MTRR	4552	broad.mit.edu	37	chr5	7897181	7897181	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatatattatatttcagaaaAgagctcagacatttccttaa	16	15	4	6	0	2	3	2	0	0	3	3	3	3	3	1	0	1	1	1	0	8	8			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:7897181A>G	ENST00000264668.2	+	14	1884	c.1854A>G	c.(1852-1854)aaA>aaG	p.K618K	MTRR_ENST00000440940.2_Silent_p.K591K	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	618					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ATTTCAGAAAAGAGCTCAGAC	0.388													15	20					0	0	0	0	G	7897181	A	G	7897181	2	3	197	1	0	0	0	0	0	0	0	1	10031	69	3	5		5	MTRR	5	7897181	Silent	SNP	A	TCGA-CR-7370-01A-11D-2129-08	29679	7897181	173018079	152	34873											
SEMA5A	9037	broad.mit.edu	37	chr5	9202224	9202224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcaggaagcgcccacCaatatcgttcttgcacaccc	10	8	7	16	2	1	0	0	0	1	0	3	1	2	1	4	1	3	3	4	1	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:9202224C>A	ENST00000382496.5	-	9	1440	c.775G>T	c.(775-777)Ggt>Tgt	p.G259C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	259	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AAGCGCCCACCAATATCGTTC	0.507													30	59					4.02929e-09	4.85464e-09	1	0	A	9202224	C	A	9202224	3	1	197	1	0	0	0	0	1	0	0	0	14124	594	21	4	2509	4	SEMA5A	5	9202224	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1305043	9202224	171713036	153	34874											
PRDM9	56979	broad.mit.edu	37	chr5	23522738	23522738	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagattgtgagatgtgtcAgaacttcttcattgacagct	10	14	9	8	0	3	4	2	2	1	3	4	5	4	4	1	0	2	1	1	0	1	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:23522738A>G	ENST00000296682.3	+	8	808	c.626A>G	c.(625-627)cAg>cGg	p.Q209R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	209					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGATGTGTCAGAACTTCTTC	0.483										HNSCC(3;0.000094)			20	15					0	0	0	0	G	23522738	A	G	23522738	3	3	197	1	0	0	0	0	1	0	0	0	12543	188	7	5	652	5	PRDM9	5	23522738	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	14320514	23522738	157392522	154	34875											
CDH6	1004	broad.mit.edu	37	chr5	31323142	31323142	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgaagcccttttcctaccCcgacggactccaacagctcg	8	7	7	19	4	0	0	0	0	0	0	3	3	2	1	6	1	4	1	6	1	3	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:31323142C>A	ENST00000265071.2	+	12	2365	c.2100C>A	c.(2098-2100)ccC>ccA	p.P700P		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	700					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTTCCTACCCCGACGGACTC	0.517													15	50					0.000308642	0.000328427	1	0	A	31323142	C	A	31323142	2	1	197	1	0	0	0	0	0	0	0	1	3143	610	22	4		4	CDH6	5	31323142	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	7800404	31323142	149592118	155	34876											
TARS	6897	broad.mit.edu	37	chr5	33461070	33461070	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcggctagctgattttggGgtacttcataggaacgagct	8	12	13	8	2	1	1	1	1	0	0	1	3	1	2	0	4	5	4	0	4	4	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:33461070G>A	ENST00000265112.3	+	12	1625	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	TARS_ENST00000455217.2_Silent_p.G471G|TARS_ENST00000414361.2_Silent_p.G317G|TARS_ENST00000502553.1_Silent_p.G438G|TARS_ENST00000541634.1_Silent_p.G334G	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	438					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CTGATTTTGGGGTACTTCATA	0.502													18	48					0	0	0	0	A	33461070	G	A	33461070	2	1	197	1	0	0	0	0	0	0	0	1	15650	1219	43	4		4	TARS	5	33461070	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2137928	33461070	147454190	156	34877											
SPEF2	79925	broad.mit.edu	37	chr5	35654802	35654802	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaaattgttaatggacCagttaatagcccacgaagca	14	8	11	8	2	0	0	0	0	0	0	0	3	0	2	2	3	2	3	2	3	5	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:35654802C>T	ENST00000440995.2	+	7	952	c.952C>T	c.(952-954)Cag>Tag	p.Q318*	SPEF2_ENST00000509059.1_Nonsense_Mutation_p.Q318*|SPEF2_ENST00000282469.6_Nonsense_Mutation_p.Q318*|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.Q318*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	318					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTAATGGACCAGTTAATAGC	0.383													45	43					0	0	0	0	T	35654802	C	T	35654802	4	4	197	1	0	0	0	0	0	1	0	0	15125	595	21	4	978	4	SPEF2	5	35654802	Nonsense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2193732	35654802	145260458	157	34878											
SKP2	6502	broad.mit.edu	37	chr5	36184011	36184011	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccctcaaacatacagaacTtccaaactcaagtccagcca	15	7	4	15	0	2	1	2	0	0	1	4	1	4	1	4	0	6	0	4	0	5	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:36184011T>G	ENST00000274254.5	+	10	1405	c.1131T>G	c.(1129-1131)acT>acG	p.T377T	SKP2_ENST00000274255.6_3'UTR	NM_032637.3	NP_116026.1	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATACAGAACTTCCAAACTCA	0.363													7	71					0	0	0	0	G	36184011	T	G	36184011	2	3	197	1	0	0	0	0	0	0	0	1	14450	1596	56	5		5	SKP2	5	36184011	Silent	SNP	T	TCGA-CR-7370-01A-11D-2129-08	529209	36184011	144731249	158	34879											
PTGER4	5734	broad.mit.edu	37	chr5	40681505	40681505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtggacaagcgattggcggGcctcacgctctttgcagtct	6	10	13	12	4	3	0	1	0	2	0	3	2	3	1	1	3	2	2	1	3	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:40681505G>T	ENST00000302472.3	+	2	1434	c.410G>T	c.(409-411)gGc>gTc	p.G137V	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	137					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGATTGGCGGGCCTCACGCTC	0.597											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	74					9.59835e-30	1.49064e-29	1	0	T	40681505	G	T	40681505	3	4	197	1	0	0	0	0	1	0	0	0	12825	1203	42	4	412	4	PTGER4	5	40681505	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	4497494	40681505	140233755	159	34880											
CCL28	56477	broad.mit.edu	37	chr5	43382139	43382139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgacacagattcttctGcgcttgacatgaaggctgtt	8	12	12	9	1	2	4	0	3	2	1	2	4	2	4	0	2	1	4	0	2	1	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:43382139G>T	ENST00000537013.1	-	4	304	c.305C>A	c.(304-306)gCa>gAa	p.A102E	CCL28_ENST00000361115.4_Silent_p.R69R|CCL28_ENST00000513525.1_Silent_p.R22R			Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	0					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						AGATTCTTCTGCGCTTGACAT	0.398													12	60					6.40141e-05	6.89028e-05	1	0	T	43382139	G	T	43382139	3	4	197	1	0	0	0	0	1	0	0	0	2927	1306	46	4	180	4	CCL28	5	43382139	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2700634	43382139	137533121	160	34881											
MAP1B	4131	broad.mit.edu	37	chr5	71492252	71492252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagaggaggctgatgaggagGacaaagctgaagatgccaga	16	4	16	5	0	0	6	0	3	0	3	0	9	0	9	1	4	2	2	1	4	3	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:71492252G>A	ENST00000296755.7	+	5	3368	c.3070G>A	c.(3070-3072)Gac>Aac	p.D1024N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1024						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGATGAGGAGGACAAAGCTGA	0.532													37	11					0	0	0	0	A	71492252	G	A	71492252	3	1	197	1	0	0	0	0	1	0	0	0	9297	1174	41	2	3088	2	MAP1B	5	71492252	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	28110113	71492252	109423008	161	34882											
AP3B1	8546	broad.mit.edu	37	chr5	77385258	77385258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagtgtaaaccttcaaGatcagccatcaaacttggag	15	9	8	9	0	3	2	3	1	0	1	3	3	3	3	2	1	3	1	2	1	5	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:77385258G>T	ENST00000255194.6	-	22	2711	c.2536C>A	c.(2536-2538)Ctt>Att	p.L846I	AP3B1_ENST00000519295.1_Missense_Mutation_p.L797I	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	846					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AAACCTTCAAGATCAGCCATC	0.393									Hermansky-Pudlak syndrome				28	14					1.5548e-18	2.18726e-18	1	0	T	77385258	G	T	77385258	3	4	197	1	0	0	0	0	1	0	0	0	745	942	33	2	772	2	AP3B1	5	77385258	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	5893006	77385258	103530002	162	34883											
NR2F1	7025	broad.mit.edu	37	chr5	92923837	92923837	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgagctggccgcgcgcctGctcttcagcgccgtcgagtg	3	8	15	15	7	2	0	1	0	1	0	3	2	2	0	3	1	4	2	3	1	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:92923837G>C	ENST00000327111.3	+	2	2365	c.678G>C	c.(676-678)ctG>ctC	p.L226L		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	226					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CCGCGCGCCTGCTCTTCAGCG	0.652													40	28					0	0	0	0	C	92923837	G	C	92923837	2	2	197	1	0	0	0	0	0	0	0	1	10698	1306	46	4		4	NR2F1	5	92923837	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	15538579	92923837	87991423	163	34884											
TRIM36	55521	broad.mit.edu	37	chr5	114472790	114472790	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctgagctgcaggtctaaAgctcttcaaagattctgtgg	10	12	11	8	0	5	2	1	1	4	1	5	2	5	2	0	2	3	3	0	2	3	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:114472790A>G	ENST00000513154.1	-	7	1443	c.1117T>C	c.(1117-1119)Ttt>Ctt	p.F373L	TRIM36_ENST00000514154.1_Missense_Mutation_p.F230L|TRIM36_ENST00000282369.3_Missense_Mutation_p.F385L			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	385	COS.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GCAGGTCTAAAGCTCTTCAAA	0.333													12	13					0	0	0	0	G	114472790	A	G	114472790	3	3	197	1	0	0	0	0	1	0	0	0	16605	72	3	5	1049	5	TRIM36	5	114472790	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	21548953	114472790	66442470	164	34885											
P4HA2	8974	broad.mit.edu	37	chr5	131533904	131533904	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacatcatactcacgtagtTtaagaaagtagccacacgat	16	9	6	10	2	2	1	2	0	0	1	2	2	2	1	1	0	2	3	1	0	5	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:131533904T>A	ENST00000401867.1	-	13	1934	c.1366A>T	c.(1366-1368)Aac>Tac	p.N456Y	P4HA2_ENST00000379086.1_Intron|P4HA2_ENST00000379100.2_Intron|P4HA2_ENST00000379104.2_Missense_Mutation_p.N456Y|P4HA2_ENST00000360568.3_Intron|P4HA2_ENST00000166534.4_Missense_Mutation_p.N456Y			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	456	Fe2OG dioxygenase.					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTCACGTAGTTTAAGAAAGTA	0.502													31	11					0	0	0	0	A	131533904	T	A	131533904	3	1	197	1	0	0	0	0	1	0	0	0	11428	1841	64	5	257	5	P4HA2	5	131533904	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	17061114	131533904	49381356	165	34886											
GFRA3	2676	broad.mit.edu	37	chr5	137593402	137593402	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggcggcagcgcgcagttGggggcgatggtgttgcgccg	5	6	20	10	6	0	0	0	0	0	0	0	1	0	0	1	5	2	4	1	5	0	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:137593402G>T	ENST00000274721.3	-	4	957	c.711C>A	c.(709-711)ccC>ccA	p.P237P	GFRA3_ENST00000378362.3_Silent_p.P206P	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	237					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCGCGCAGTTGGGGGCGATGG	0.711													16	6					3.52763e-06	3.93305e-06	1	0	T	137593402	G	T	137593402	2	4	197	1	0	0	0	0	0	0	0	1	6400	1335	47	4		4	GFRA3	5	137593402	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	6059498	137593402	43321858	166	34887											
NRG2	9542	broad.mit.edu	37	chr5	139231313	139231313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgggcctccacacatgctgGgctgttgcatttgctggtac	5	11	12	13	1	0	0	0	0	0	0	1	0	1	0	3	3	4	6	3	3	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:139231313G>T	ENST00000541337.1	-	7	1679	c.1450C>A	c.(1450-1452)Cca>Aca	p.P484T	NRG2_ENST00000358522.3_Missense_Mutation_p.P552T|NRG2_ENST00000289422.7_Missense_Mutation_p.P558T|NRG2_ENST00000545385.1_Missense_Mutation_p.P552T|NRG2_ENST00000361474.1_Missense_Mutation_p.P550T|NRG2_ENST00000340391.3_Missense_Mutation_p.P347T|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289409.4_Missense_Mutation_p.P544T	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	550					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACATGCTGGGCTGTTGCAT	0.627													7	25					0.00198382	0.00207842	1	0	T	139231313	G	T	139231313	3	4	197	1	0	0	0	0	1	0	0	0	10719	1232	43	4	912	4	NRG2	5	139231313	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1637911	139231313	41683947	167	34888											
PCDHA4	56144	broad.mit.edu	37	chr5	140188217	140188217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgtctgcgtgggacgCggacgcgcaggagaacgcgc	7	5	17	12	7	1	1	0	0	1	1	1	4	1	3	0	3	2	1	0	3	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140188217C>A	ENST00000530339.1	+	1	1445	c.1445C>A	c.(1444-1446)gCg>gAg	p.A482E	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A482E|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A482E|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGGACGCGGACGCGCAG	0.657													36	28					1.71298e-08	2.03757e-08	1	0	A	140188217	C	A	140188217	3	1	197	1	0	0	0	0	1	0	0	0	11597	768	27	3	1447	3	PCDHA4	5	140188217	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	956904	140188217	40727043	168	34889											
PCDHA4	56144	broad.mit.edu	37	chr5	140188563	140188563	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaaaggtgcgcgcggtGgatgctgactcgggctacaa	8	7	17	9	4	0	1	0	1	0	0	1	2	0	2	0	5	3	3	0	5	3	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140188563G>A	ENST00000530339.1	+	1	1791	c.1791G>A	c.(1789-1791)gtG>gtA	p.V597V	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.V597V|PCDHA4_ENST00000356878.4_Silent_p.V597V|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGCGGTGGATGCTGACT	0.692													41	21					0	0	0	0	A	140188563	G	A	140188563	2	1	197	1	0	0	0	0	0	0	0	1	11597	1335	47	4		4	PCDHA4	5	140188563	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	346	140188563	40726697	169	34890											
PCDHA6	56142	broad.mit.edu	37	chr5	140209620	140209620	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccgcgccaccggctgctGgtgctggtgaaagaccacgg	6	7	14	14	4	1	2	0	1	1	1	2	2	1	2	4	4	2	3	4	4	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140209620G>T	ENST00000529310.1	+	1	2058	c.1944G>T	c.(1942-1944)ctG>ctT	p.L648L	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGGCTGCTGGTGCTGGTGA	0.667													37	16					3.6622e-26	5.61738e-26	1	0	T	140209620	G	T	140209620	2	4	197	1	0	0	0	0	0	0	0	1	11599	1335	47	4		4	PCDHA6	5	140209620	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	21057	140209620	40705640	170	34891											
PCDHA12	56137	broad.mit.edu	37	chr5	140257259	140257259	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgtgagccggtgcgcgccGggcaagcccacgctggtgtg	5	5	17	14	6	0	1	0	1	0	0	0	1	0	1	4	3	3	2	4	3	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140257259G>T	ENST00000398631.2	+	1	2202	c.2202G>T	c.(2200-2202)ccG>ccT	p.P734P	PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCCGGGCAAGCCCA	0.682													13	2					4.36969e-10	5.37753e-10	1	0	T	140257259	G	T	140257259	2	4	197	1	0	0	0	0	0	0	0	1	11593	1103	39	3		3	PCDHA12	5	140257259	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	47639	140257259	40658001	171	34892											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712446	140712446	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggcttcgggaggcggctTagcgagcatgcccggttcgc	6	7	16	12	5	0	0	0	0	0	0	2	2	0	1	1	5	3	4	1	5	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140712446T>A	ENST00000517417.1	+	1	2195	c.2195T>A	c.(2194-2196)tTa>tAa	p.L732*	PCDHGA1_ENST00000378105.3_Nonsense_Mutation_p.L732*	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGCGGCTTAGCGAGCATG	0.652													50	35					0	0	0	0	A	140712446	T	A	140712446	4	1	197	1	0	0	0	0	0	1	0	0	11621	1764	61	5	2197	5	PCDHGA1	5	140712446	Nonsense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	455187	140712446	40202814	172	34893											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720611	140720611	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgattcggacctcactctGtacctggtggtggcggtggc	6	10	14	11	3	2	0	1	0	1	0	3	2	2	1	2	6	2	1	2	6	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140720611G>T	ENST00000394576.2	+	1	2073	c.2073G>T	c.(2071-2073)ctG>ctT	p.L691L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTCACTCTGTACCTGGTGG	0.677													84	53					1.52804e-57	2.50867e-57	1	0	T	140720611	G	T	140720611	2	4	197	1	0	0	0	0	0	0	0	1	11625	1364	48	4		4	PCDHGA2	5	140720611	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	8165	140720611	40194649	173	34894											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789266	140789266	+	Silent	SNP	G	G	T																															gcgagtgacctagagcccctGgcggtgtcgtcatacgtgtc																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140789266G>T	ENST00000520790.1	+	1	1497	c.1497G>T	c.(1495-1497)ctG>ctT	p.L499L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1												p.L499L(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGCCCCTGGCGGTGTCGT	0.642													15	7					2.35188e-11	2.98785e-11	1	0	T	140789266	G	T	140789266	2	4	197	1	0	0	0	0	0	0	0	1	11638	1335	47	4		4	PCDHGB6	5	140789266	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	68655	140789266	40125994	174	34895	263	2									
PCDHGB6	56100	broad.mit.edu	37	chr5	140789267	140789267	+	Missense_Mutation	SNP	G	G	T																															cgagtgacctagagcccctgGcggtgtcgtcatacgtgtca																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140789267G>T	ENST00000520790.1	+	1	1498	c.1498G>T	c.(1498-1500)Gcg>Tcg	p.A500S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCCCCTGGCGGTGTCGTC	0.637													15	7					2.35188e-11	2.98785e-11	1	0	T	140789267	G	T	140789267	3	4	197	1	0	0	0	0	1	0	0	0	11638	1203	42	4	1500	4	PCDHGB6	5	140789267	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1	140789267	40125993	175	34896	263	2									
PCDHGA12	26025	broad.mit.edu	37	chr5	140811002	140811002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccggtgcgcacaggcaccGcgcgcatccgcgtgatggtt	6	6	14	15	7	0	1	0	1	0	0	1	1	1	1	3	3	1	4	3	3	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140811002G>A	ENST00000252085.3	+	1	818	c.676G>A	c.(676-678)Gcg>Acg	p.A226T	PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCACCGCGCGCATCCG	0.657													33	12					0	0	0	0	A	140811002	G	A	140811002	3	1	197	1	0	0	0	0	1	0	0	0	11624	1087	38	1	678	1	PCDHGA12	5	140811002	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	21735	140811002	40104258	176	34897											
ZNF300	91975	broad.mit.edu	37	chr5	150275854	150275854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccccagtatgagttctcTgatgtacaacaagatgaaac	13	11	7	10	0	2	4	0	3	2	1	4	4	2	4	2	0	3	3	2	0	5	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:150275854T>C	ENST00000446148.2	-	7	1422	c.995A>G	c.(994-996)cAg>cGg	p.Q332R	ZNF300_ENST00000418587.2_Missense_Mutation_p.Q280R|ZNF300_ENST00000394226.2_Missense_Mutation_p.Q316R|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.Q316R	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGAGTTCTCTGATGTACAAC	0.398													69	43					0	0	0	0	C	150275854	T	C	150275854	3	2	197	1	0	0	0	0	1	0	0	0	17926	1580	55	5	871	5	ZNF300	5	150275854	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	9464852	150275854	30639406	177	34898											
GRIA1	2890	broad.mit.edu	37	chr5	153077675	153077675	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctgggggcgataattcAagtgttcagaacagaacata	15	8	11	7	1	2	2	2	0	0	2	2	3	2	2	0	2	3	2	0	2	6	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:153077675A>T	ENST00000285900.5	+	9	1549	c.1206A>T	c.(1204-1206)tcA>tcT	p.S402S	GRIA1_ENST00000521843.2_Silent_p.S333S|GRIA1_ENST00000448073.4_Silent_p.S412S|GRIA1_ENST00000518142.1_Silent_p.S322S|GRIA1_ENST00000518783.1_Silent_p.S412S|GRIA1_ENST00000340592.5_Silent_p.S402S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	402					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCGATAATTCAAGTGTTCAGA	0.458													16	15					0	0	0	0	T	153077675	A	T	153077675	2	4	197	1	0	0	0	0	0	0	0	1	6817	117	5	5		5	GRIA1	5	153077675	Silent	SNP	A	TCGA-CR-7370-01A-11D-2129-08	2801821	153077675	27837585	178	34899											
SGCD	6444	broad.mit.edu	37	chr5	156184595	156184595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggtgtttttcaggttGgagtccccaacccggtctct	4	15	11	11	1	3	0	1	0	2	0	5	1	4	1	3	4	1	2	3	4	1	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:156184595G>T	ENST00000435422.3	+	7	1063	c.576G>T	c.(574-576)ttG>ttT	p.L192F	SGCD_ENST00000447401.1_Missense_Mutation_p.L193F|SGCD_ENST00000337851.4_Missense_Mutation_p.L193F|SGCD_ENST00000517913.1_Missense_Mutation_p.L193F	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	192					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTCAGGTTGGAGTCCCCAA	0.443													9	2					2.80697e-09	3.38741e-09	1	0	T	156184595	G	T	156184595	3	4	197	1	0	0	0	0	1	0	0	0	14288	1339	47	4	605	4	SGCD	5	156184595	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	3106920	156184595	24730665	179	34900											
C5orf54	63920	broad.mit.edu	37	chr5	159821207	159821207	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgaaacaattatttcttCaagaaaaggaaaattggtaa	19	12	6	4	0	3	2	1	1	2	1	3	3	3	3	0	2	1	1	0	2	9	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:159821207C>A	ENST00000408953.3	-	2	1798	c.1291G>T	c.(1291-1293)Gaa>Taa	p.E431*	C5orf54_ENST00000523213.1_Nonsense_Mutation_p.E431*	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	431										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						attatttcttcaagaaaagga	0.328													38	20					1.414e-09	1.72029e-09	1	0	A	159821207	C	A	159821207	4	1	197	1	0	0	0	0	0	1	0	0	2331	835	29	2	497	2	C5orf54	5	159821207	Nonsense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3636612	159821207	21094053	180	34901											
ATP10B	23120	broad.mit.edu	37	chr5	160029629	160029629	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatcctggccaggcgcgaGtaacaccagtggccatgcac	10	5	11	15	2	0	0	0	0	0	0	1	1	1	0	5	3	2	2	5	3	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:160029629G>A	ENST00000327245.5	-	21	4164	c.3318C>T	c.(3316-3318)taC>taT	p.Y1106Y		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1106					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGCGCGAGTAACACCAGT	0.567													22	10					0	0	0	0	A	160029629	G	A	160029629	2	1	197	1	0	0	0	0	0	0	0	1	1121	1024	36	4		4	ATP10B	5	160029629	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	208422	160029629	20885631	181	34902											
ATP10B	23120	broad.mit.edu	37	chr5	160033898	160033898	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattccagaaacttcttctCtagctttccctggaagatgg	10	13	7	11	0	2	2	0	0	2	2	5	3	4	3	2	2	2	1	2	2	4	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:160033898C>A	ENST00000327245.5	-	19	3880	c.3034G>T	c.(3034-3036)Gag>Tag	p.E1012*		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1012					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACTTCTTCTCTAGCTTTCCC	0.507													51	40					4.86159e-25	7.38132e-25	1	0	A	160033898	C	A	160033898	4	1	197	1	0	0	0	0	0	1	0	0	1121	922	32	2	1383	2	ATP10B	5	160033898	Nonsense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4269	160033898	20881362	182	34903											
HK3	3101	broad.mit.edu	37	chr5	176318482	176318482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgcctgctccatggaacCcaagaggctggcttggatct	8	8	12	13	1	1	1	0	0	1	1	2	3	2	3	3	4	3	3	3	4	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:176318482C>G	ENST00000292432.5	-	3	257	c.166G>C	c.(166-168)Ggt>Cgt	p.G56R		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	56	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCATGGAACCCAAGAGGCTG	0.627													30	28					0	0	0	0	G	176318482	C	G	176318482	3	3	197	1	0	0	0	0	1	0	0	0	7242	623	22	4	2673	4	HK3	5	176318482	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	16284584	176318482	4596778	183	34904											
ZNF346	23567	broad.mit.edu	37	chr5	176489129	176489129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacagtaccaagctcatgtCagcggcttcaaacacaagaa	16	6	8	11	1	3	1	3	0	0	1	3	2	3	1	1	1	5	3	1	1	6	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:176489129C>T	ENST00000503039.1	+	7	853	c.849C>T	c.(847-849)gtC>gtT	p.V283V	ZNF346_ENST00000506693.1_Silent_p.V160V|ZNF346_ENST00000503425.1_Silent_p.V226V|ZNF346_ENST00000512315.1_Silent_p.V82V|ZNF346_ENST00000358149.3_Silent_p.V258V|ZNF346_ENST00000511834.1_Silent_p.V274V|ZNF346_ENST00000261948.4_Silent_p.V283V			Q9UL40	ZN346_HUMAN	zinc finger protein 346	258						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCTCATGTCAGCGGCTTCA	0.423													66	48					0	0	0	0	T	176489129	C	T	176489129	2	4	197	1	0	0	0	0	0	0	0	1	17955	813	29	2		2	ZNF346	5	176489129	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	170647	176489129	4426131	184	34905											
ADAMTS2	9509	broad.mit.edu	37	chr5	178770807	178770807	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgccacagaggaggcttcGgctaggccggccacgtctcc	7	5	14	15	4	1	1	0	0	1	1	3	2	1	2	4	5	1	2	4	5	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:178770807G>A	ENST00000251582.7	-	2	596	c.495C>T	c.(493-495)gcC>gcT	p.A165A	ADAMTS2_ENST00000274609.5_Silent_p.A165A	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	165					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGAGGCTTCGGCTAGGCCGG	0.652													6	8					0	0	0	0	A	178770807	G	A	178770807	2	1	197	1	0	0	0	0	0	0	0	1	265	1103	39	1		1	ADAMTS2	5	178770807	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2281678	178770807	2144453	185	34906											
JARID2	3720	broad.mit.edu	37	chr6	15468903	15468903	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatcttcatgccagtcGacccccaggaaaggaaaaac	13	7	8	13	1	3	0	2	0	1	0	4	3	3	2	3	2	2	1	3	2	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:15468903G>T	ENST00000341776.2	+	5	868	c.624G>T	c.(622-624)tcG>tcT	p.S208S	JARID2_ENST00000541660.1_Silent_p.S170S|JARID2_ENST00000397311.3_Silent_p.S36S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	208					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CATGCCAGTCGACCCCCAGGA	0.468													37	57					3.71624e-46	6.02176e-46	1	0	T	15468903	G	T	15468903	2	4	197	1	0	0	0	0	0	0	0	1	7998	1045	37	3		3	JARID2	6	15468903	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08		15468903	155646164	186	34907											
OR2B6	26212	broad.mit.edu	37	chr6	27925284	27925284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtaaatttatgcagcatcaGgaaagtaatcagttatcgtg	15	12	9	5	1	2	0	2	0	0	0	3	1	2	1	0	1	2	5	0	1	6	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:27925284G>A	ENST00000244623.1	+	1	266	c.266G>A	c.(265-267)aGg>aAg	p.R89K		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCAGCATCAGGAAAGTAATC	0.428													30	16					0	0	0	0	A	27925284	G	A	27925284	3	1	197	1	0	0	0	0	1	0	0	0	11062	1000	35	4	268	4	OR2B6	6	27925284	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	12456381	27925284	143189783	187	34908											
COL11A2	1302	broad.mit.edu	37	chr6	33146751	33146751	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagcacctgcccggccCtgggagaacaagggaagtgt	10	5	13	13	1	1	1	1	0	0	1	1	3	1	2	4	3	3	1	4	3	3	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:33146751C>A	ENST00000341947.2	-	17	1839		c.e17-1		COL11A2_ENST00000361917.1_Splice_Site|COL11A2_ENST00000374712.1_Splice_Site|COL11A2_ENST00000374708.4_Splice_Site|COL11A2_ENST00000395197.1_Splice_Site|COL11A2_ENST00000374714.1_Splice_Site|COL11A2_ENST00000357486.1_Splice_Site|COL11A2_ENST00000374713.1_Splice_Site	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2						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						CTGCCCGGCCCTGGGAGAACA	0.647													16	11					0.00400662	0.00415687	1	0	A	33146751	C	A	33146751	5	1	197	1	0	0	0	0	0	0	1	0	3698	695	24	4	3799	4	COL11A2	6	33146751	Splice_Site	SNP	C	TCGA-CR-7370-01A-11D-2129-08	5221467	33146751	137968316	188	34909											
RGL2	5863	broad.mit.edu	37	chr6	33264212	33264212	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgtcctctctagttcgTcggtaggatgagattcaagg	7	14	12	8	2	2	1	1	1	1	1	6	3	3	2	1	3	0	3	1	3	3	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:33264212T>C	ENST00000497454.1	-	5	944	c.449A>G	c.(448-450)gAc>gGc	p.D150G	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.D68G	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	150	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTCTAGTTCGTCGGTAGGATG	0.522													33	18					0	0	0	0	C	33264212	T	C	33264212	3	2	197	1	0	0	0	0	1	0	0	0	13359	1667	58	5	1940	5	RGL2	6	33264212	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	117461	33264212	137850855	189	34910											
LRFN2	57497	broad.mit.edu	37	chr6	40399511	40399511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctggtacatcttcacccGgggtgctgacttgctgacag	7	10	12	12	1	2	2	1	2	1	0	2	2	2	2	1	3	4	4	1	3	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:40399511G>A	ENST00000338305.6	-	2	1884	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	448	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATCTTCACCCGGGGTGCTGAC	0.592													11	37					0	0	0	0	A	40399511	G	A	40399511	3	1	197	1	0	0	0	0	1	0	0	0	9002	1115	39	1	1035	1	LRFN2	6	40399511	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	7135299	40399511	130715556	190	34911											
TFEB	7942	broad.mit.edu	37	chr6	41653831	41653831	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagttcaggaccagacctgGatacggagccagagctgctt	11	7	12	11	1	1	2	1	0	0	2	1	5	1	5	3	3	4	3	3	3	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:41653831G>T	ENST00000230323.4	-	9	1249	c.948C>A	c.(946-948)atC>atA	p.I316I	TFEB_ENST00000420312.1_Silent_p.I231I|TFEB_ENST00000403298.4_Silent_p.I316I|TFEB_ENST00000358871.2_Silent_p.I330I|TFEB_ENST00000373033.1_Silent_p.I316I	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	316	Leucine-zipper.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACCAGACCTGGATACGGAGCC	0.537			T	ALPHA	renal (childhood epithelioid)								15	61					3.41278e-10	4.20685e-10	1	0	T	41653831	G	T	41653831	2	4	197	1	0	0	0	0	0	0	0	1	15895	1164	41	2		2	TFEB	6	41653831	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1254320	41653831	129461236	191	34912											
CUL7	9820	broad.mit.edu	37	chr6	43020081	43020081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccagtgaggggctcaatgCtggcataggcgctgagcacg	8	7	15	11	2	1	2	1	2	0	0	2	2	2	2	1	4	2	5	1	4	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:43020081C>T	ENST00000535468.1	-	2	688	c.602G>A	c.(601-603)aGc>aAc	p.S201N	CUL7_ENST00000265348.3_Missense_Mutation_p.S149N	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	149					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGCTCAATGCTGGCATAGGC	0.557													4	35					0	0	0	0	T	43020081	C	T	43020081	3	4	197	1	0	0	0	0	1	0	0	0	4092	797	28	4	4846	4	CUL7	6	43020081	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1366250	43020081	128094986	192	34913											
PTK7	5754	broad.mit.edu	37	chr6	43109969	43109969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtggcccctgaggactcagGccgctacacctgcattgcag	7	7	12	15	2	1	1	1	1	0	0	1	2	1	2	4	3	3	3	4	3	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:43109969G>T	ENST00000230419.4	+	13	2200	c.1979G>T	c.(1978-1980)gGc>gTc	p.G660V	PTK7_ENST00000481273.1_Missense_Mutation_p.G668V|PTK7_ENST00000349241.2_Missense_Mutation_p.G530V|PTK7_ENST00000345201.2_Missense_Mutation_p.G620V|PTK7_ENST00000352931.2_Intron	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	660	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GAGGACTCAGGCCGCTACACC	0.607													27	40					4.74835e-14	6.35667e-14	1	0	T	43109969	G	T	43109969	3	4	197	1	0	0	0	0	1	0	0	0	12845	1203	42	4	2029	4	PTK7	6	43109969	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	89888	43109969	128005098	193	34914											
TINAG	27283	broad.mit.edu	37	chr6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagaagatggttttaaatttCgccttggcactttgccacct	9	15	8	9	1	0	2	0	0	0	2	1	2	0	2	3	2	1	2	3	2	4	6	rs115438249	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:54191661C>T	ENST00000259782.4	+	4	667	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_ENST00000370869.3_Missense_Mutation_p.R187C|TINAG_ENST00000370864.3_Missense_Mutation_p.R173C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373													26	38					0	0	0	0	T	54191661	C	T	54191661	3	4	197	1	0	0	0	0	1	0	0	0	16015	884	31	1	585	1	TINAG	6	54191661	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	11081692	54191661	116923406	194	34915											
TINAG	27283	broad.mit.edu	37	chr6	54214671	54214671	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaggatctatcaatgttctCctccatacagagtctcttcc	10	13	5	13	0	4	1	1	0	3	1	8	2	6	2	3	1	1	1	3	1	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:54214671C>A	ENST00000259782.4	+	7	1153	c.1057C>A	c.(1057-1059)Cct>Act	p.P353T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	353					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TCAATGTTCTCCTCCATACAG	0.408													11	51					7.93312e-07	8.97885e-07	1	0	A	54214671	C	A	54214671	3	1	197	1	0	0	0	0	1	0	0	0	16015	855	30	2	1083	2	TINAG	6	54214671	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	23010	54214671	116900396	195	34916											
DST	667	broad.mit.edu	37	chr6	56481471	56481471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgcagagcaatttctGgaggaacacgaatgcctctc	10	9	10	12	1	2	1	0	0	2	1	3	4	2	3	2	2	5	3	2	2	3	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:56481471G>A	ENST00000370765.6	-	24	6901	c.6794C>T	c.(6793-6795)cCa>cTa	p.P2265L	DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1607					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCAATTTCTGGAGGAACACG	0.438													26	93					0	0	0	0	A	56481471	G	A	56481471	3	1	197	1	0	0	0	0	1	0	0	0	4819	1348	47	4	13605	4	DST	6	56481471	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2266800	56481471	114633596	196	34917											
DDX43	55510	broad.mit.edu	37	chr6	74116174	74116174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agacattgtgttatttaatgCctggatttattcatctggtc	9	18	8	6	0	2	1	1	0	1	1	3	2	2	2	1	2	1	1	1	2	3	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:74116174C>A	ENST00000370336.4	+	7	1053	c.895C>A	c.(895-897)Cct>Act	p.P299T	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	299	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTATTTAATGCCTGGATTTAT	0.378													23	20					9.57634e-11	1.19825e-10	1	0	A	74116174	C	A	74116174	3	1	197	1	0	0	0	0	1	0	0	0	4395	739	26	4	921	4	DDX43	6	74116174	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	17634703	74116174	96998893	197	34918											
FUT9	10690	broad.mit.edu	37	chr6	96651708	96651708	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcatttggagaatatgTcaatgataaaaatttgattc	16	13	8	4	0	1	3	1	2	0	1	2	4	1	3	0	1	1	2	0	1	7	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:96651708T>A	ENST00000302103.5	+	3	1003	c.677T>A	c.(676-678)gTc>gAc	p.V226D		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	226					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GGAGAATATGTCAATGATAAA	0.353													8	20					0	0	0	0	A	96651708	T	A	96651708	3	1	197	1	0	0	0	0	1	0	0	0	6159	1667	58	5	679	5	FUT9	6	96651708	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	22535534	96651708	74463359	198	34919											
LIN28B	389421	broad.mit.edu	37	chr6	105406156	105406156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccagtcgatgtatttgtaCaccaagtaagccaaactttt	12	14	6	9	1	0	0	0	0	0	0	2	1	1	0	3	0	3	3	3	0	5	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:105406156C>G	ENST00000345080.4	+	2	396	c.193C>G	c.(193-195)Cac>Gac	p.H65D		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	65	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				TGTATTTGTACACCAAGTAAG	0.453													36	56					0	0	0	0	G	105406156	C	G	105406156	3	3	197	1	0	0	0	0	1	0	0	0	8861	478	17	4	199	4	LIN28B	6	105406156	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	8754448	105406156	65708911	199	34920											
C6orf203	51250	broad.mit.edu	37	chr6	107361208	107361208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgtatttttcctttttccGtaagactcaaaagtaatata	14	17	4	6	1	1	1	1	0	0	1	3	1	3	1	2	0	0	3	2	0	8	9	rs150832095	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:107361208G>A	ENST00000443043.1	+	3	934	c.259G>A	c.(259-261)Gta>Ata	p.V87I	C6orf203_ENST00000489790.1_3'UTR|C6orf203_ENST00000405204.2_Missense_Mutation_p.V82I|C6orf203_ENST00000311381.5_Missense_Mutation_p.V82I	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	82										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		TCCTTTTTCCGTAAGACTCAA	0.333													25	55					0	0	0	0	A	107361208	G	A	107361208	3	1	197	1	0	0	0	0	1	0	0	0	2373	1145	40	1	265	1	C6orf203	6	107361208	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1955052	107361208	63753859	200	34921											
GPR6	2830	broad.mit.edu	37	chr6	110301114	110301114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctgcagcagcactgcctgGcgccaccccatctcgctgcc	5	6	10	20	3	1	0	0	0	1	0	2	0	1	0	5	1	5	5	5	1	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:110301114G>T	ENST00000414000.2	+	3	1083	c.844G>T	c.(844-846)Gcg>Tcg	p.A282S	GPR6_ENST00000275169.3_Missense_Mutation_p.A267S			P46095	GPR6_HUMAN	G protein-coupled receptor 6	267						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GCACTGCCTGGCGCCACCCCA	0.637													7	37					5.4927e-09	6.56488e-09	1	0	T	110301114	G	T	110301114	3	4	197	1	0	0	0	0	1	0	0	0	6750	1203	42	4	801	4	GPR6	6	110301114	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2939906	110301114	60813953	201	34922											
GPRC6A	222545	broad.mit.edu	37	chr6	117130668	117130668	+	Frame_Shift_Del	DEL	A	A	-																															tgccactgtgacttctgtacAagtgtcatagatttcatacc																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:117130668delA	ENST00000310357.3	-	2	328	c.307delT	c.(307-309)gtfs	p.C103fs	GPRC6A_ENST00000368549.3_Frame_Shift_Del_p.C103fs|GPRC6A_ENST00000530250.1_Frame_Shift_Del_p.C103fs	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	103					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACTTCTGTACAAGTGTCATAG	0.408													13	34	---	---	---	---					-	117130668	A	-	117130668	7	5	197	1	0	1	0	1	0	0	0	0	6778	130	5	0	2493	0	GPRC6A	6	117130668	Frame_Shift_Del	DEL	A	TCGA-CR-7370-01A-11D-2129-08	6829554	117130668	53984399	202	34923											
ROS1	6098	broad.mit.edu	37	chr6	117665282	117665282	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attaacttctgcataataaaCcaggtatgttggagtagggc	13	12	10	6	0	1	0	0	0	1	0	1	1	1	1	1	3	3	4	1	3	6	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:117665282C>A	ENST00000368508.3	-	27	4663	c.4465G>T	c.(4465-4467)Gtt>Ttt	p.V1489F	ROS1_ENST00000368507.3_Missense_Mutation_p.V1483F|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1489	Fibronectin type-III 6.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCATAATAAACCAGGTATGTT	0.398			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								17	32					5.35267e-07	6.08591e-07	1	0	A	117665282	C	A	117665282	3	1	197	1	0	0	0	0	1	0	0	0	13616	507	18	4	2646	4	ROS1	6	117665282	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	534614	117665282	53449785	203	34924											
LAMA2	3908	broad.mit.edu	37	chr6	129704301	129704301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagatggcgagcagaccgGacaggatgctgagaggacca	13	3	16	9	2	0	3	0	1	0	3	0	8	0	6	2	4	3	3	2	4	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:129704301G>T	ENST00000421865.2	+	35	5043	c.4994G>T	c.(4993-4995)gGa>gTa	p.G1665V		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1665	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGCAGACCGGACAGGATGCT	0.448													10	17					0.000978159	0.00103058	1	0	T	129704301	G	T	129704301	3	4	197	1	0	0	0	0	1	0	0	0	8659	1174	41	2	5132	2	LAMA2	6	129704301	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	12039019	129704301	41410766	204	34925											
MOXD1	26002	broad.mit.edu	37	chr6	132722446	132722446	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgccccgctggctccaGcccagccagtacttgccctc	4	8	10	19	1	0	0	0	0	0	0	2	0	1	0	6	2	5	4	6	2	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:132722446G>T	ENST00000367963.3	-	1	238	c.120C>A	c.(118-120)ggC>ggA	p.G40G	MOXD1_ENST00000392401.3_Silent_p.G40G	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	40	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.W41fs*59(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCTGGCTCCAGCCCAGCCAGT	0.736													6	7					1.06961e-07	1.23876e-07	1	0	T	132722446	G	T	132722446	2	4	197	1	0	0	0	0	0	0	0	1	9790	958	34	4		4	MOXD1	6	132722446	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	3018145	132722446	38392621	205	34926											
TAAR2	9287	broad.mit.edu	37	chr6	132938351	132938351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgagctgaaaattttacCtagcaaaatgtacttcagtg	15	12	7	7	0	1	2	1	2	0	0	1	2	1	2	1	0	4	3	1	0	7	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:132938351C>T	ENST00000275191.2	-	1	966	c.859G>A	c.(859-861)Ggt>Agt	p.G287S	TAAR2_ENST00000537809.1_Missense_Mutation_p.G287S|TAAR2_ENST00000367931.1_Missense_Mutation_p.G332S	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	332						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AAAATTTTACCTAGCAAAATG	0.343													23	20					0	0	0	0	T	132938351	C	T	132938351	3	4	197	1	0	0	0	0	1	0	0	0	15581	681	24	4	65	4	TAAR2	6	132938351	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	215905	132938351	38176716	206	34927											
VNN2	8875	broad.mit.edu	37	chr6	133073775	133073775	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggtaacaccaggatcAtagaagaatatatcaaagca	19	6	8	8	0	2	2	2	0	0	2	2	3	2	3	2	2	2	2	2	2	7	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:133073775A>G	ENST00000326499.6	-	4	775	c.651T>C	c.(649-651)taT>taC	p.Y217Y	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Silent_p.Y164Y	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	217	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CACCAGGATCATAGAAGAATA	0.443													42	95					0	0	0	0	G	133073775	A	G	133073775	2	3	197	1	0	0	0	0	0	0	0	1	17279	224	8	5		5	VNN2	6	133073775	Silent	SNP	A	TCGA-CR-7370-01A-11D-2129-08	135424	133073775	38041292	207	34928											
ALDH8A1	64577	broad.mit.edu	37	chr6	135239568	135239568	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatcagtgtttaacggtGatggttttgatctcagtgaa	12	14	11	4	1	2	4	2	3	1	1	3	4	2	4	0	2	1	2	0	2	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:135239568G>T	ENST00000265605.2	-	7	1517	c.1449C>A	c.(1447-1449)atC>atA	p.I483I	ALDH8A1_ENST00000367845.2_Silent_p.I429I|ALDH8A1_ENST00000367847.2_Silent_p.I433I	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	483					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GTTTAACGGTGATGGTTTTGA	0.478													13	30					1.49906e-05	1.64434e-05	1	0	T	135239568	G	T	135239568	2	4	197	1	0	0	0	0	0	0	0	1	505	1280	45	2		2	ALDH8A1	6	135239568	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2165793	135239568	35875499	208	34929											
OLIG3	167826	broad.mit.edu	37	chr6	137814953	137814953	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgatcttggagagcttgcGcaccgacggcccatgcgcgt	6	7	15	13	6	1	1	0	0	1	1	1	4	1	1	2	3	3	2	2	3	0	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:137814953G>C	ENST00000367734.2	-	1	578	c.355C>G	c.(355-357)Cgc>Ggc	p.R119G		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	119	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GAGAGCTTGCGCACCGACGGC	0.602													17	50					0	0	0	0	C	137814953	G	C	137814953	3	2	197	1	0	0	0	0	1	0	0	0	10933	1087	38	3	467	3	OLIG3	6	137814953	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2575385	137814953	33300114	209	34930											
ULBP1	80329	broad.mit.edu	37	chr6	150290448	150290448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggggattgtaagatgTggcttgaagaatttttgatg	10	14	14	3	0	0	4	0	2	0	2	0	5	0	5	0	3	0	2	0	3	3	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:150290448T>C	ENST00000229708.2	+	3	620	c.577T>C	c.(577-579)Tgg>Cgg	p.W193R	ULBP1_ENST00000367345.1_Missense_Mutation_p.W193R	NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	193	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TTGTAAGATGTGGCTTGAAGA	0.448													52	65					0	0	0	0	C	150290448	T	C	150290448	3	2	197	1	0	0	0	0	1	0	0	0	17068	1696	59	5	587	5	ULBP1	6	150290448	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	12475495	150290448	20824619	210	34931											
SYNE1	23345	broad.mit.edu	37	chr6	152652521	152652521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcactgagacaattcacGtggctttgtgcatcagagag	12	10	11	8	1	3	2	3	1	0	2	3	4	3	2	0	1	1	2	0	1	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:152652521G>T	ENST00000367255.5	-	78	13900	c.13299C>A	c.(13297-13299)caC>caA	p.H4433Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.H4298Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.H4362Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.H4433Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.H4362Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4433					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACAATTCACGTGGCTTTGTG	0.493										HNSCC(10;0.0054)			35	29					9.80977e-26	1.49855e-25	1	0	T	152652521	G	T	152652521	3	4	197	1	0	0	0	0	1	0	0	0	15536	1136	40	3	13443	3	SYNE1	6	152652521	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2362073	152652521	18462546	211	34932											
RGS17	26575	broad.mit.edu	37	chr6	153347653	153347653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttcccgcattttcccCtctttcttcattcctcacag	4	16	5	16	1	5	0	2	0	3	0	8	0	8	0	4	1	0	1	4	1	0	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:153347653C>A	ENST00000367225.2	-	2	169	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	RGS17_ENST00000206262.1_Missense_Mutation_p.G49W			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	49					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		GCATTTTCCCCTCTTTCTTCA	0.398													23	89					1.75199e-13	2.32045e-13	1	0	A	153347653	C	A	153347653	3	1	197	1	0	0	0	0	1	0	0	0	13382	681	24	4	499	4	RGS17	6	153347653	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	695132	153347653	17767414	212	34933											
SYNJ2	8871	broad.mit.edu	37	chr6	158454617	158454617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggccaaggcctgcctcGtctctcgcgttagctgtgag	6	9	13	13	3	1	1	0	1	1	0	4	1	1	1	3	2	3	3	3	2	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:158454617G>T	ENST00000355585.4	+	4	691	c.616G>T	c.(616-618)Gtc>Ttc	p.V206F	SYNJ2_ENST00000367122.2_Missense_Mutation_p.V206F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.V206F|SYNJ2_ENST00000449859.2_Missense_Mutation_p.V155F	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	206	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGCCTGCCTCGTCTCTCGCGT	0.622													23	32					4.72057e-08	5.51842e-08	1	0	T	158454617	G	T	158454617	3	4	197	1	0	0	0	0	1	0	0	0	15544	1145	40	3	630	3	SYNJ2	6	158454617	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	5106964	158454617	12660450	213	34934											
PDE10A	10846	broad.mit.edu	37	chr6	165752772	165752772	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaataattcatacctggcCttgggggacttcatccttct	8	16	7	10	0	3	0	2	0	1	0	4	1	4	1	3	3	1	0	3	3	3	8			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:165752772C>A	ENST00000366882.1	-	21	2297	c.2143G>T	c.(2143-2145)Ggc>Tgc	p.G715C	PDE10A_ENST00000354448.4_Missense_Mutation_p.G715C|PDE10A_ENST00000539869.2_Missense_Mutation_p.G725C			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	715					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CATACCTGGCCTTGGGGGACT	0.353													23	92					5.35356e-11	6.7325e-11	1	0	A	165752772	C	A	165752772	3	1	197	1	0	0	0	0	1	0	0	0	11701	681	24	4	208	4	PDE10A	6	165752772	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	7298155	165752772	5362295	214	34935											
T	6862	broad.mit.edu	37	chr6	166581041	166581041	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtccactcggtactgCaggctctttcccgcgctctc	4	11	11	15	3	2	0	0	0	2	0	6	0	4	0	2	4	2	4	2	4	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:166581041C>G	ENST00000296946.2	-	2	507	c.39G>C	c.(37-39)ctG>ctC	p.L13L	T_ENST00000366871.3_Silent_p.L13L	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	13					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CTCGGTACTGCAGGCTCTTTC	0.697									Chordoma, Familial Clustering of				5	8					0	0	0	0	G	166581041	C	G	166581041	2	3	197	1	0	0	0	0	0	0	0	1	15579	697	25	4		4	T	6	166581041	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	828269	166581041	4534026	215	34936											
FRMD1	79981	broad.mit.edu	37	chr6	168457935	168457935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgagtgaggtgggcgctgGgtgcagggccagctggtgca	5	7	21	8	1	0	2	0	2	0	0	0	2	0	2	1	5	3	5	1	5	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:168457935G>T	ENST00000283309.6	-	11	1556	c.1492C>A	c.(1492-1494)Cca>Aca	p.P498T	FRMD1_ENST00000440994.2_Missense_Mutation_p.P430T|FRMD1_ENST00000537786.1_Missense_Mutation_p.P269T|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	498						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GTGGGCGCTGGGTGCAGGGCC	0.672													8	3					5.18039e-06	5.74147e-06	1	0	T	168457935	G	T	168457935	3	4	197	1	0	0	0	0	1	0	0	0	6097	1232	43	4	161	4	FRMD1	6	168457935	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1876894	168457935	2657132	216	34937											
FRMD1	79981	broad.mit.edu	37	chr6	168464370	168464370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctccttggggctcaggcCctggcgctcacggtgcaggg	3	7	17	14	2	2	0	2	0	0	0	3	0	3	0	3	7	1	3	3	7	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:168464370C>A	ENST00000283309.6	-	6	779	c.715G>T	c.(715-717)Ggc>Tgc	p.G239C	FRMD1_ENST00000440994.2_Missense_Mutation_p.G171C|FRMD1_ENST00000537786.1_Missense_Mutation_p.G10C|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	239	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGCTCAGGCCCTGGCGCTCA	0.642													15	31					1.02788e-11	1.31703e-11	1	0	A	168464370	C	A	168464370	3	1	197	1	0	0	0	0	1	0	0	0	6097	623	22	4	958	4	FRMD1	6	168464370	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	6435	168464370	2650697	217	34938											
DNAH11	8701	broad.mit.edu	37	chr7	21747362	21747362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgttaacatgaaacagaagCcggtttggaatgacttaaac	16	10	9	6	1	0	3	0	2	0	1	0	4	0	4	1	2	4	2	1	2	6	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:21747362C>T	ENST00000328843.6	+	41	6644	c.6613C>T	c.(6613-6615)Ccg>Tcg	p.P2205S	DNAH11_ENST00000409508.3_Missense_Mutation_p.P2198S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2205	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAACAGAAGCCGGTTTGGAA	0.383									Kartagener syndrome				13	25					0	0	0	0	T	21747362	C	T	21747362	3	4	197	1	0	0	0	0	1	0	0	0	4636	739	26	4	6772	4	DNAH11	7	21747362	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08		21747362	137391301	218	34939											
CCDC126	90693	broad.mit.edu	37	chr7	23682551	23682551	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgatttattcccctagcGgatctgaaaagaacaattgc	12	13	7	9	1	2	3	0	2	2	1	3	4	3	4	2	1	3	0	2	1	6	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:23682551G>T	ENST00000307471.3	+	4	697	c.238_splice	c.e4-1	p.A80_splice	CCDC126_ENST00000410069.1_Splice_Site_p.A80_splice|CCDC126_ENST00000409765.1_Splice_Site_p.A80_splice	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	80						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						TTCCCCTAGCGGATCTGAAAA	0.368													25	35					3.7963e-18	5.30063e-18	1	0	T	23682551	G	T	23682551	5	4	197	1	0	0	0	0	0	0	1	0	2787	1130	39	3	246	3	CCDC126	7	23682551	Splice_Site	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1935189	23682551	135456112	219	34940											
PDE1C	5137	broad.mit.edu	37	chr7	31864484	31864484	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caagcttccccactgacctcGaacgcctctgtcctgtccca	7	9	6	19	2	1	1	0	1	1	0	5	2	4	1	6	0	2	1	6	0	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:31864484G>C	ENST00000396184.3	-	14	1607	c.1403C>G	c.(1402-1404)tCg>tGg	p.S468W	PDE1C_ENST00000396193.1_Missense_Mutation_p.S528W|PDE1C_ENST00000321453.7_Missense_Mutation_p.S468W|PDE1C_ENST00000396191.1_Missense_Mutation_p.S468W|PDE1C_ENST00000396182.2_Missense_Mutation_p.S468W	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	468	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.S468*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CACTGACCTCGAACGCCTCTG	0.512													42	94					0	0	0	0	C	31864484	G	C	31864484	3	2	197	1	0	0	0	0	1	0	0	0	11706	1059	37	3	521	3	PDE1C	7	31864484	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	8181933	31864484	127274179	220	34941											
BMPER	168667	broad.mit.edu	37	chr7	34009964	34009964	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgttgtcacagagtctggGgtgcgctgtgttgttcattg	4	14	16	7	2	3	1	2	0	1	1	3	1	3	1	0	3	1	4	0	3	0	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:34009964G>A	ENST00000297161.2	+	6	800	c.426G>A	c.(424-426)ggG>ggA	p.G142G	BMPER_ENST00000426693.1_Silent_p.G142G	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	142	VWFC 2.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAGAGTCTGGGGTGCGCTGTG	0.488													44	77					0	0	0	0	A	34009964	G	A	34009964	2	1	197	1	0	0	0	0	0	0	0	1	1473	1219	43	4		4	BMPER	7	34009964	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2145480	34009964	125128699	221	34942											
URGCP	55665	broad.mit.edu	37	chr7	43917780	43917780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcccggatcctcttcaCgaagctgtcgctgtcagtgc	6	10	12	13	3	3	0	2	0	1	0	5	3	4	1	2	2	2	2	2	2	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:43917780C>A	ENST00000336086.6	-	4	3389	c.1153G>T	c.(1153-1155)Gtg>Ttg	p.V385L	URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.V385L|URGCP_ENST00000223341.7_Missense_Mutation_p.V385L|URGCP_ENST00000443736.1_Missense_Mutation_p.V385L|URGCP_ENST00000402306.3_Missense_Mutation_p.V419L|URGCP_ENST00000453200.1_Missense_Mutation_p.V428L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	428					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATCCTCTTCACGAAGCTGTCG	0.537													46	110					1.48734e-19	2.14073e-19	1	0	A	43917780	C	A	43917780	3	1	197	1	0	0	0	0	1	0	0	0	17122	536	19	3	1517	3	URGCP	7	43917780	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	9907816	43917780	115220883	222	34943											
DDX56	54606	broad.mit.edu	37	chr7	44609415	44609415	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaggctcttacctccactGagaagctcctcaatcttgcc	8	10	7	16	0	3	1	1	1	2	1	5	2	5	1	5	1	3	2	5	1	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:44609415G>A	ENST00000258772.5	-	9	1318	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	DDX56_ENST00000431640.1_Silent_p.L364L|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	404	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TACCTCCACTGAGAAGCTCCT	0.507													12	12					0	0	0	0	A	44609415	G	A	44609415	2	1	197	1	0	0	0	0	0	0	0	1	4406	1277	45	2		2	DDX56	7	44609415	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	691635	44609415	114529248	223	34944											
ZNF479	90827	broad.mit.edu	37	chr7	57194381	57194381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatccaggcattgccattcCtccagagagaattctatagc	12	10	7	12	0	1	2	0	0	1	2	4	3	4	2	4	1	2	1	4	1	4	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:57194381C>T	ENST00000331162.4	-	3	354	c.84G>A	c.(82-84)gaG>gaA	p.E28E		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATTGCCATTCCTCCAGAGAGA	0.438													30	46					0	0	0	0	T	57194381	C	T	57194381	2	4	197	1	0	0	0	0	0	0	0	1	18028	680	24	4		4	ZNF479	7	57194381	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	12584966	57194381	101944282	224	34945											
NSUN5	55695	broad.mit.edu	37	chr7	72718297	72718297	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggatccgagggggagacCgccaggaagtcctcctcagc	8	5	15	13	3	1	1	1	0	0	1	4	5	4	3	5	4	1	0	5	4	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:72718297C>A	ENST00000428206.1	-	7	763	c.750G>T	c.(748-750)gcG>gcT	p.A250A	NSUN5_ENST00000310326.8_Silent_p.A288A|NSUN5_ENST00000438747.2_Silent_p.A288A|NSUN5_ENST00000252594.6_Silent_p.A288A	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	288							methyltransferase activity	p.A288A(1)		breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				AGGGGGAGACCGCCAGGAAGT	0.632													17	33					5.3912e-06	5.96627e-06	1	0	A	72718297	C	A	72718297	2	1	197	1	0	0	0	0	0	0	0	1	10752	639	23	3		3	NSUN5	7	72718297	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	15523916	72718297	86420366	225	34946											
PCLO	27445	broad.mit.edu	37	chr7	82584629	82584629	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaatttataaactttttgTacttctattattttttccgg	9	21	5	6	1	1	0	0	0	1	0	2	0	2	0	1	2	2	2	1	2	7	12			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:82584629T>A	ENST00000423517.2	-	5	5977	c.5640A>T	c.(5638-5640)gtA>gtT	p.V1880V	PCLO_ENST00000333891.8_Silent_p.V1880V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1811					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAACTTTTTGTACTTCTATTA	0.368													22	34					0	0	0	0	A	82584629	T	A	82584629	2	1	197	1	0	0	0	0	0	0	0	1	11654	1625	57	5		5	PCLO	7	82584629	Silent	SNP	T	TCGA-CR-7370-01A-11D-2129-08	9866332	82584629	76554034	226	34947											
ABCB1	5243	broad.mit.edu	37	chr7	87173503	87173503	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaggcctccatttataatgGcacaaaatacaccaacaaca	17	7	5	12	0	0	0	0	0	0	0	1	0	1	0	3	2	3	2	3	2	7	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:87173503G>T	ENST00000265724.3	-	18	2570	c.2153C>A	c.(2152-2154)gCc>gAc	p.A718D	ABCB1_ENST00000543898.1_Missense_Mutation_p.A654D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	718	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATTTATAATGGCACAAAATAC	0.358													33	55					1.39649e-27	2.15532e-27	1	0	T	87173503	G	T	87173503	3	4	197	1	0	0	0	0	1	0	0	0	40	1203	42	4	1737	4	ABCB1	7	87173503	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	4588874	87173503	71965160	227	34948											
STEAP4	79689	broad.mit.edu	37	chr7	87910388	87910388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatggattctccttcttgaGtattgcctaagaaaaattat	14	15	6	6	0	2	2	0	1	2	1	3	3	2	3	2	1	1	1	2	1	6	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:87910388G>A	ENST00000380079.4	-	4	1092	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F	AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.L155F|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	331	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TCCTTCTTGAGTATTGCCTAA	0.368													13	23					0	0	0	0	A	87910388	G	A	87910388	3	1	197	1	0	0	0	0	1	0	0	0	15370	1029	36	4	396	4	STEAP4	7	87910388	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	736885	87910388	71228275	228	34949											
STEAP2	261729	broad.mit.edu	37	chr7	89856546	89856546	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgacttttacaaaattcctAtagagattgtgaataaaacc	16	13	6	6	0	0	3	0	2	0	1	1	4	1	3	2	0	2	0	2	0	8	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:89856546A>G	ENST00000287908.3	+	3	1147	c.754A>G	c.(754-756)Ata>Gta	p.I252V	STEAP2_ENST00000394626.1_Missense_Mutation_p.I252V|STEAP2_ENST00000402625.2_Missense_Mutation_p.I252V|STEAP2_ENST00000394621.2_Missense_Mutation_p.I252V|STEAP2_ENST00000394632.1_Missense_Mutation_p.I252V|STEAP2_ENST00000394622.2_Missense_Mutation_p.I252V|STEAP2_ENST00000394629.2_Missense_Mutation_p.I252V	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	252					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CAAAATTCCTATAGAGATTGT	0.378													36	62					0	0	0	0	G	89856546	A	G	89856546	3	3	197	1	0	0	0	0	1	0	0	0	15368	449	16	5	760	5	STEAP2	7	89856546	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	1946158	89856546	69282117	229	34950											
PEX1	5189	broad.mit.edu	37	chr7	92143172	92143172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaactcactaaattctctCtaggttgtaactttagagat	12	16	6	7	0	3	2	1	1	2	1	4	3	3	2	0	1	2	2	0	1	6	8			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:92143172C>G	ENST00000248633.4	-	6	1444	c.1349G>C	c.(1348-1350)aGa>aCa	p.R450T	PEX1_ENST00000428214.1_Missense_Mutation_p.R450T|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Missense_Mutation_p.R128T	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	450					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TAAATTCTCTCTAGGTTGTAA	0.328													41	70					0	0	0	0	G	92143172	C	G	92143172	3	3	197	1	0	0	0	0	1	0	0	0	11807	913	32	2	2578	2	PEX1	7	92143172	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2286626	92143172	66995491	230	34951											
HEPACAM2	253012	broad.mit.edu	37	chr7	92848626	92848626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtatttgggcattgtgtggGgtctctcaaatagccatatg	9	14	12	6	0	2	0	1	0	1	0	3	0	2	0	1	3	1	2	1	3	4	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:92848626G>A	ENST00000394468.2	-	2	295	c.218C>T	c.(217-219)cCc>cTc	p.P73L	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P61L|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P61L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P96L	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	73						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CATTGTGTGGGGTCTCTCAAA	0.498													38	55					0	0	0	0	A	92848626	G	A	92848626	3	1	197	1	0	0	0	0	1	0	0	0	7103	1232	43	4	1206	4	HEPACAM2	7	92848626	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	705454	92848626	66290037	231	34952											
FBXO24	26261	broad.mit.edu	37	chr7	100192139	100192139	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggcctgcatgacttccaaCcagagcagcaccctctacgt	9	8	9	15	1	1	2	0	1	1	1	2	2	2	2	4	1	5	3	4	1	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:100192139C>A	ENST00000241071.6	+	6	1249	c.927C>A	c.(925-927)aaC>aaA	p.N309K	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.N347K|FBXO24_ENST00000465843.1_Missense_Mutation_p.N295K|FBXO24_ENST00000360609.2_Missense_Mutation_p.N295K|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.N297K	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	309						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGACTTCCAACCAGAGCAGCA	0.602													18	22					5.01169e-05	5.40222e-05	1	0	A	100192139	C	A	100192139	3	1	197	1	0	0	0	0	1	0	0	0	5780	506	18	4	1106	4	FBXO24	7	100192139	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	7343513	100192139	58946524	232	34953											
ACHE	43	broad.mit.edu	37	chr7	100490790	100490790	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagccactagttacctgcAggccgtggaagtctcccgcg	7	8	12	14	3	1	0	0	0	1	0	2	1	1	1	4	2	3	3	4	2	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:100490790A>G	ENST00000302913.4	-	2	1202	c.1064T>C	c.(1063-1065)cTg>cCg	p.L355P	ACHE_ENST00000428317.1_Missense_Mutation_p.L355P|ACHE_ENST00000412389.1_Missense_Mutation_p.L355P|ACHE_ENST00000411582.1_Missense_Mutation_p.L355P|ACHE_ENST00000419336.2_Missense_Mutation_p.L355P|ACHE_ENST00000241069.5_Missense_Mutation_p.L355P	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	355					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	AGTTACCTGCAGGCCGTGGAA	0.622													7	19					0	0	0	0	G	100490790	A	G	100490790	3	3	197	1	0	0	0	0	1	0	0	0	141	188	7	5	931	5	ACHE	7	100490790	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	298651	100490790	58647873	233	34954											
RELN	5649	broad.mit.edu	37	chr7	103389906	103389906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaattgcagttggtggtagGagtcaaagtcatctctcagg	10	13	12	6	0	4	0	3	0	1	0	5	1	4	1	0	4	1	3	0	4	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:103389906G>T	ENST00000424685.2	-	6	782	c.623C>A	c.(622-624)tCc>tAc	p.S208Y	RELN_ENST00000343529.5_Missense_Mutation_p.S208Y|RELN_ENST00000428762.1_Missense_Mutation_p.S208Y			P78509	RELN_HUMAN	reelin	208					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGGTGGTAGGAGTCAAAGTC	0.343													57	70					2.165e-29	3.3553e-29	1	0	T	103389906	G	T	103389906	3	4	197	1	0	0	0	0	1	0	0	0	13302	1174	41	2	9999	2	RELN	7	103389906	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2899116	103389906	55748757	234	34955											
COG5	10466	broad.mit.edu	37	chr7	107198559	107198559	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttaaaaagtcactataacaCcctggattggggaaaaaata	18	10	7	6	0	1	0	1	0	0	0	1	2	1	2	1	3	1	0	1	3	9	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:107198559C>T	ENST00000393603.2	-	2	460	c.187_splice	c.e2-1	p.G63_splice	COG5_ENST00000347053.3_Splice_Site_p.G63_splice|COG5_ENST00000297135.3_Splice_Site_p.G63_splice	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	63					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CACTATAACACCCTGGATTGG	0.308													10	33					0	0	0	0	T	107198559	C	T	107198559	5	4	197	1	0	0	0	0	0	0	1	0	3691	521	18	4	2481	4	COG5	7	107198559	Splice_Site	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3808653	107198559	51940104	235	34956											
LAMB4	22798	broad.mit.edu	37	chr7	107704266	107704266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgcagagctggcagtttgCgccctgagtgttgtgcaaac	7	12	13	9	1	0	2	0	1	0	1	0	2	0	2	1	1	5	6	1	1	1	3	rs142967094		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:107704266C>T	ENST00000388781.3	-	22	3084	c.3001G>A	c.(3001-3003)Gca>Aca	p.A1001T	LAMB4_ENST00000388780.3_Missense_Mutation_p.A1001T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1001T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1001	Laminin EGF-like 10.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGGCAGTTTGCGCCCTGAGTG	0.527													51	107					0	0	0	0	T	107704266	C	T	107704266	3	4	197	1	0	0	0	0	1	0	0	0	8666	768	27	1	2336	1	LAMB4	7	107704266	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	505707	107704266	51434397	236	34957											
IFRD1	3475	broad.mit.edu	37	chr7	112097034	112097034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcaaaaatgctgtatgAatttattctggaaaggagaa	15	12	10	4	0	2	2	1	1	1	1	2	4	2	3	0	3	1	3	0	3	7	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:112097034A>G	ENST00000403825.3	+	4	611	c.350A>G	c.(349-351)gAa>gGa	p.E117G	IFRD1_ENST00000429071.1_Missense_Mutation_p.E117G|IFRD1_ENST00000005558.4_Missense_Mutation_p.E117G|IFRD1_ENST00000535603.1_Missense_Mutation_p.E67G	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	117					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						ATGCTGTATGAATTTATTCTG	0.368													26	40					0	0	0	0	G	112097034	A	G	112097034	3	3	197	1	0	0	0	0	1	0	0	0	7606	246	9	5	364	5	IFRD1	7	112097034	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	4392768	112097034	47041629	237	34958											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518193	113518193	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttcttttctactacctGatgtcactattcctgaactt	8	19	3	11	0	4	2	1	2	3	0	5	2	5	2	2	0	3	0	2	0	4	8			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:113518193G>T	ENST00000284601.3	-	4	3022	c.2954C>A	c.(2953-2955)tCa>tAa	p.S985*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	985					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTACTACCTGATGTCACTAT	0.368													12	90					1.08611e-07	1.24819e-07	1	0	T	113518193	G	T	113518193	4	4	197	1	0	0	0	0	0	1	0	0	12447	1294	45	2	418	2	PPP1R3A	7	113518193	Nonsense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1421159	113518193	45620470	238	34959											
RNF133	168433	broad.mit.edu	37	chr7	122338457	122338457	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcaaccacggctgtaatGagaactcccttcttaattaa	13	11	5	12	1	2	1	1	1	1	1	3	2	3	1	3	1	2	2	3	1	5	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:122338457G>A	ENST00000340112.2	-	1	753	c.516C>T	c.(514-516)ctC>ctT	p.L172L	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	172						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CGGCTGTAATGAGAACTCCCT	0.398													51	96					0	0	0	0	A	122338457	G	A	122338457	2	1	197	1	0	0	0	0	0	0	0	1	13524	1277	45	2		2	RNF133	7	122338457	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	8820264	122338457	36800206	239	34960											
RNF133	168433	broad.mit.edu	37	chr7	122338764	122338764	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactataactcctgccactCtcttcaaagtggagcttctt	9	13	6	13	0	3	0	1	0	2	0	5	1	4	1	2	1	3	2	2	1	3	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:122338764C>A	ENST00000340112.2	-	1	446	c.209G>T	c.(208-210)aGa>aTa	p.R70I	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	70	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TCCTGCCACTCTCTTCAAAGT	0.433													63	78					2.44918e-20	3.53876e-20	1	0	A	122338764	C	A	122338764	3	1	197	1	0	0	0	0	1	0	0	0	13524	913	32	2	925	2	RNF133	7	122338764	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	307	122338764	36799899	240	34961											
NDUFA5	4698	broad.mit.edu	37	chr7	123197486	123197486	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagtattgcacacagccaatCccacaaggccagtggtctgt	11	8	10	12	0	1	0	0	0	1	0	2	1	2	0	3	2	2	2	3	2	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:123197486C>G	ENST00000471770.1	-	2	172	c.38G>C	c.(37-39)gGa>gCa	p.G13A	NDUFA5_ENST00000467117.1_5'UTR|NDUFA5_ENST00000355749.2_Missense_Mutation_p.G13A			Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	13					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|urinary_tract(1)	2					NADH(DB00157)	CACAGCCAATCCCACAAGGCC	0.423													5	54					0	0	0	0	G	123197486	C	G	123197486	3	3	197	1	0	0	0	0	1	0	0	0	10338	855	30	2	328	2	NDUFA5	7	123197486	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	858722	123197486	35941177	241	34962											
GCC1	79571	broad.mit.edu	37	chr7	127224972	127224972	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctatcctcgctgtgagTggagcaccggtcatccacag	8	9	12	12	2	1	1	1	1	0	0	4	2	3	2	3	2	2	3	3	2	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:127224972T>A	ENST00000321407.2	-	1	689	c.265A>T	c.(265-267)Act>Tct	p.T89S	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	89						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCGCTGTGAGTGGAGCACCGG	0.597													26	44					0	0	0	0	A	127224972	T	A	127224972	3	1	197	1	0	0	0	0	1	0	0	0	6334	1696	59	5	2070	5	GCC1	7	127224972	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	4027486	127224972	31913691	242	34963											
RAB19	401409	broad.mit.edu	37	chr7	140125809	140125809	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaagaacatagaagaagtCttcgtgctcatggccaagga	15	8	10	8	1	3	3	2	0	1	3	4	4	3	4	1	2	2	1	1	2	6	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:140125809C>T	ENST00000275874.5	+	5	852	c.654C>T	c.(652-654)gtC>gtT	p.V218V	RAB19_ENST00000537763.1_Silent_p.V171V|RAB19_ENST00000356407.3_Silent_p.V171V			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	171					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TAGAAGAAGTCTTCGTGCTCA	0.582													31	92					0	0	0	0	T	140125809	C	T	140125809	2	4	197	1	0	0	0	0	0	0	0	1	12986	900	32	2		2	RAB19	7	140125809	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	12900837	140125809	19012854	243	34964											
TAS2R4	50832	broad.mit.edu	37	chr7	141478516	141478516	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctcttcaaatacggaaagGtcagtctacctgtctgcttt	9	14	8	10	1	5	0	2	0	3	0	6	1	5	1	1	2	3	1	1	2	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:141478516G>A	ENST00000247881.2	+	1	275	c.228G>A	c.(226-228)agG>agA	p.R76R	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	76					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		ATACGGAAAGGTCAGTCTACC	0.433													65	116					0	0	0	0	A	141478516	G	A	141478516	2	1	197	1	0	0	0	0	0	0	0	1	15668	1252	44	4		4	TAS2R4	7	141478516	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1352707	141478516	17660147	244	34965											
PRSS1	5644	broad.mit.edu	37	chr7	142459743	142459743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggaagactctgaacaatGacatcatgttaatcaagctc	16	9	7	9	0	3	3	2	2	1	1	4	4	3	4	0	1	2	2	0	1	5	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:142459743G>A	ENST00000486171.1	+	4	378	c.361G>A	c.(361-363)Gac>Aac	p.D121N	PRSS1_ENST00000311737.7_Missense_Mutation_p.D107N			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	107	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCTGAACAATGACATCATGTT	0.552													11	165					0	0	0	0	A	142459743	G	A	142459743	3	1	197	1	0	0	0	0	1	0	0	0	12693	1290	45	2	329	2	PRSS1	7	142459743	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	981227	142459743	16678920	245	34966											
OR2F1	26211	broad.mit.edu	37	chr7	143657597	143657597	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttattgatcacatatcCtgtgaactcctagctgtggt	10	15	8	8	0	1	2	1	2	0	0	3	2	3	2	2	1	2	2	2	1	5	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:143657597C>T	ENST00000392899.1	+	1	571	c.534C>T	c.(532-534)tcC>tcT	p.S178S		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATCACATATCCTGTGAACTCC	0.498													36	56					0	0	0	0	T	143657597	C	T	143657597	2	4	197	1	0	0	0	0	0	0	0	1	11067	668	24	4		4	OR2F1	7	143657597	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1197854	143657597	15481066	246	34967											
ZNF425	155054	broad.mit.edu	37	chr7	148800930	148800930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggaccttcaagctgcccCtgatgcagtagctcttgtca	8	11	10	12	0	3	1	2	1	1	0	3	2	3	2	3	1	4	4	3	1	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:148800930C>T	ENST00000378061.2	-	4	2165	c.2033G>A	c.(2032-2034)aGg>aAg	p.R678K		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	678					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CAAGCTGCCCCTGATGCAGTA	0.547													56	95					0	0	0	0	T	148800930	C	T	148800930	3	4	197	1	0	0	0	0	1	0	0	0	17994	681	24	4	229	4	ZNF425	7	148800930	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	5143333	148800930	10337733	247	34968											
GIMAP8	155038	broad.mit.edu	37	chr7	150164299	150164299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactgcattttcaacaacaaGaccaatagtaaggatgagca	17	9	7	8	0	1	2	1	1	0	1	1	3	1	3	1	1	5	3	1	1	7	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:150164299G>A	ENST00000307271.3	+	2	1087	c.513G>A	c.(511-513)aaG>aaA	p.K171K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	171						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCAACAACAAGACCAATAGTA	0.443													8	142					0	0	0	0	A	150164299	G	A	150164299	2	1	197	1	0	0	0	0	0	0	0	1	6436	933	33	2		2	GIMAP8	7	150164299	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1363369	150164299	8974364	248	34969											
AGAP3	116988	broad.mit.edu	37	chr7	150784095	150784095	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctacgccatctacgacctGatcgagcgcatcgaggattt	10	10	9	12	5	2	1	0	1	2	0	4	5	2	2	2	1	3	1	2	1	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:150784095G>T	ENST00000397238.2	+	1	267	c.267G>T	c.(265-267)ctG>ctT	p.L89L	AGAP3_ENST00000473312.1_Silent_p.L89L|AGAP3_ENST00000463381.1_Intron|AGAP3_ENST00000479901.1_Silent_p.L89L	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	53	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TCTACGACCTGATCGAGCGCA	0.667													7	12					1.76689e-08	2.09503e-08	1	0	T	150784095	G	T	150784095	2	4	197	1	0	0	0	0	0	0	0	1	369	1277	45	2		2	AGAP3	7	150784095	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	619796	150784095	8354568	249	34970											
DLGAP2	9228	broad.mit.edu	37	chr8	1497720	1497720	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgacgccaagtacctgaaGcgcagctcctggtctacgct	8	7	10	16	4	1	1	0	1	1	0	2	2	2	1	4	1	4	4	4	1	4	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:1497720G>A	ENST00000421627.2	+	2	995	c.861G>A	c.(859-861)aaG>aaA	p.K287K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	366					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGTACCTGAAGCGCAGCTCCT	0.642													11	40					0	0	0	0	A	1497720	G	A	1497720	2	1	197	1	0	0	0	0	0	0	0	1	4597	962	34	4		4	DLGAP2	8	1497720	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08		1497720	144866302	250	34971											
CSMD1	64478	broad.mit.edu	37	chr8	3226842	3226842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataaaaatctggaaaccCaggagaaaggactgttccac	16	7	10	8	0	1	1	0	0	1	1	2	5	2	4	2	4	1	1	2	4	5	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:3226842C>A	ENST00000602557.1	-	20	3391	c.2836G>T	c.(2836-2838)Ggg>Tgg	p.G946W	CSMD1_ENST00000537824.1_Missense_Mutation_p.G945W|CSMD1_ENST00000602723.1_Missense_Mutation_p.G946W|CSMD1_ENST00000542608.1_Missense_Mutation_p.G945W|CSMD1_ENST00000400186.3_Missense_Mutation_p.G946W|CSMD1_ENST00000520002.1_Missense_Mutation_p.G946W|CSMD1_ENST00000539096.1_Missense_Mutation_p.G945W			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	946	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTGGAAACCCAGGAGAAAGG	0.393													17	14					6.94344e-10	8.50287e-10	1	0	A	3226842	C	A	3226842	3	1	197	1	0	0	0	0	1	0	0	0	3976	594	21	4	8069	4	CSMD1	8	3226842	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1729122	3226842	143137180	251	34972											
XKR6	286046	broad.mit.edu	37	chr8	10782284	10782284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatagcccagtagaagcgtCgctggtgttccttccgccgc	6	10	11	14	4	1	1	1	0	0	1	4	1	3	1	4	1	2	3	4	1	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:10782284C>T	ENST00000416569.2	-	2	847	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	XKR6_ENST00000304437.2_5'UTR	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	274						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GTAGAAGCGTCGCTGGTGTTC	0.582													7	117					0	0	0	0	T	10782284	C	T	10782284	3	4	197	1	0	0	0	0	1	0	0	0	17531	884	31	1	1112	1	XKR6	8	10782284	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	7555442	10782284	135581738	252	34973											
DLC1	10395	broad.mit.edu	37	chr8	13072141	13072141	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcacacaccggcctaggtGatgttttcttctccagcaac	9	10	9	13	1	2	1	0	1	2	0	3	1	2	1	3	3	2	3	3	3	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:13072141G>C	ENST00000316609.5	-	6	1779	c.1491C>G	c.(1489-1491)atC>atG	p.I497M	DLC1_ENST00000276297.4_Intron|DLC1_ENST00000512044.2_Intron			Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	0	SAM.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGGCCTAGGTGATGTTTTCTT	0.498													50	151					0	0	0	0	C	13072141	G	C	13072141	3	2	197	1	0	0	0	0	1	0	0	0	4587	1305	45	2		2	DLC1	8	13072141	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2289857	13072141	133291881	253	34974											
SGCZ	137868	broad.mit.edu	37	chr8	13959908	13959908	+	Missense_Mutation	SNP	G	G	T																															cccttctgtagattgcagatGgagctccttcctgcaggtgg																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:13959908G>T	ENST00000382080.1	-	7	1436	c.721C>A	c.(721-723)Cat>Aat	p.H241N	SGCZ_ENST00000421524.2_Missense_Mutation_p.H194N	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	228					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GATTGCAGATGGAGCTCCTTC	0.512													24	63					1.10513e-12	1.45085e-12	1	0	T	13959908	G	T	13959908	3	4	197	1	0	0	0	0	1	0	0	0	14291	1348	47	4	225	4	SGCZ	8	13959908	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	887767	13959908	132404114	254	34975	264	2									
SGCZ	137868	broad.mit.edu	37	chr8	13959909	13959909	+	Silent	SNP	G	G	T																															ccttctgtagattgcagatgGagctccttcctgcaggtggc																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:13959909G>T	ENST00000382080.1	-	7	1435	c.720C>A	c.(718-720)ctC>ctA	p.L240L	SGCZ_ENST00000421524.2_Silent_p.L193L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	227					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ATTGCAGATGGAGCTCCTTCC	0.517													23	62					5.26018e-13	6.94232e-13	1	0	T	13959909	G	T	13959909	2	4	197	1	0	0	0	0	0	0	0	1	14291	1161	41	2		2	SGCZ	8	13959909	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1	13959909	132404113	255	34976	264	2									
ENTPD4	9583	broad.mit.edu	37	chr8	23243466	23243466	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagcagcacattgcaagTgtttggtggccccatatggt	9	11	11	10	0	0	0	0	0	0	0	1	0	1	0	3	3	3	4	3	3	3	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:23243466T>G	ENST00000356206.6	-	13	1926	c.1691A>C	c.(1690-1692)cAc>cCc	p.H564P	LOXL2_ENST00000389131.3_Intron			Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	0					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		acattgcaagtgtttggtggc	0.448													35	92					0	0	0	0	G	23243466	T	G	23243466	3	3	197	1	0	0	0	0	1	0	0	0	5179	1711	59	5		5	ENTPD4	8	23243466	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	9283557	23243466	123120556	256	34977											
ADRA1A	148	broad.mit.edu	37	chr8	26721992	26721992	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcctcgggggccggctgcctCcagccgaacaggggtccaat	6	6	14	15	3	0	0	0	0	0	0	4	1	3	0	6	5	3	1	6	5	2	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:26721992C>G	ENST00000380573.3	-	2	1518	c.495G>C	c.(493-495)tgG>tgC	p.W165C	ADRA1A_ENST00000276393.4_Missense_Mutation_p.W165C|ADRA1A_ENST00000380586.1_Missense_Mutation_p.W165C|ADRA1A_ENST00000358857.5_Missense_Mutation_p.W165C|ADRA1A_ENST00000380581.2_Missense_Mutation_p.W165C|ADRA1A_ENST00000380582.3_Missense_Mutation_p.W165C|ADRA1A_ENST00000380572.3_Missense_Mutation_p.W165C|ADRA1A_ENST00000380587.1_Missense_Mutation_p.W165C|ADRA1A_ENST00000354550.4_Missense_Mutation_p.W165C|ADRA1A_ENST00000519229.1_Missense_Mutation_p.W165C			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	165					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CCGGCTGCCTCCAGCCGAACA	0.637													30	32					0	0	0	0	G	26721992	C	G	26721992	3	3	197	1	0	0	0	0	1	0	0	0	334	856	30	2	1204	2	ADRA1A	8	26721992	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3478526	26721992	119642030	257	34978											
KIF13B	23303	broad.mit.edu	37	chr8	29037627	29037627	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgaacacctaccccagaCttcacatcgtagagagtatg	13	9	7	12	1	2	3	1	1	1	2	3	4	2	3	3	0	2	2	3	0	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:29037627C>T	ENST00000524189.1	-	8	752	c.714G>A	c.(712-714)aaG>aaA	p.K238K	KIF13B_ENST00000521515.1_Silent_p.K238K	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	238	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	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)		CTACCCCAGACTTCACATCGT	0.408													52	135					0	0	0	0	T	29037627	C	T	29037627	2	4	197	1	0	0	0	0	0	0	0	1	8326	564	20	4		4	KIF13B	8	29037627	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2315635	29037627	117326395	258	34979											
ST18	9705	broad.mit.edu	37	chr8	53025853	53025853	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattgctgtacatatctgTgagtgtatttacatatgctt	10	17	8	6	0	1	2	0	1	1	1	1	2	1	2	0	0	4	4	0	0	5	8			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:53025853T>G	ENST00000276480.7	-	26	3732	c.3049A>C	c.(3049-3051)Aca>Cca	p.T1017P		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	1017						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TACATATCTGTGAGTGTATTT	0.433													31	88					0	0	0	0	G	53025853	T	G	53025853	3	3	197	1	0	0	0	0	1	0	0	0	15302	1696	59	5	98	5	ST18	8	53025853	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	23988226	53025853	93338169	259	34980											
RP1	6101	broad.mit.edu	37	chr8	55540739	55540739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtttcaggatgaaaatGcatatacttcctttgatatg	13	14	9	5	0	1	2	1	2	0	0	2	4	2	4	1	2	2	2	1	2	6	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:55540739G>T	ENST00000220676.1	+	4	4445	c.4297G>T	c.(4297-4299)Gca>Tca	p.A1433S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1433					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGATGAAAATGCATATACTTC	0.363													26	72					1.42536e-11	1.82007e-11	1	0	T	55540739	G	T	55540739	3	4	197	1	0	0	0	0	1	0	0	0	13617	1319	46	4	4307	4	RP1	8	55540739	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2514886	55540739	90823283	260	34981											
LYN	4067	broad.mit.edu	37	chr8	56879420	56879420	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgctgtggtcaccagggagGagcccatttacatcatcacc	10	8	10	13	1	3	0	3	0	0	0	3	2	3	2	3	3	2	1	3	3	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:56879420G>T	ENST00000520220.2	+	9	1148	c.874G>T	c.(874-876)Gag>Tag	p.E292*	LYN_ENST00000420292.1_3'UTR|LYN_ENST00000519728.1_Nonsense_Mutation_p.E313*	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	313	Protein kinase.				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|T cell costimulation	cytosol|Golgi apparatus|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)			CACCAGGGAGGAGCCCATTTA	0.512													15	57					1.5739e-10	1.9595e-10	1	0	T	56879420	G	T	56879420	4	4	197	1	0	0	0	0	0	1	0	0	9172	1175	41	2	967	2	LYN	8	56879420	Nonsense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1338681	56879420	89484602	261	34982											
NSMAF	8439	broad.mit.edu	37	chr8	59514633	59514633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccagtagtctctccagcCgttccttatttagggcccct	7	13	7	14	1	1	0	0	0	1	0	4	0	3	0	6	1	2	2	6	1	4	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:59514633C>A	ENST00000038176.3	-	14	1321	c.1109G>T	c.(1108-1110)cGg>cTg	p.R370L	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.R401L	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	370	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TCTCTCCAGCCGTTCCTTATT	0.413													39	112					1.7489e-18	2.4557e-18	1	0	A	59514633	C	A	59514633	3	1	197	1	0	0	0	0	1	0	0	0	10745	652	23	3	1716	3	NSMAF	8	59514633	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2635213	59514633	86849389	262	34983											
NSMAF	8439	broad.mit.edu	37	chr8	59548030	59548030	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttaaaatgtatttaccttGatgatgggctgggatattga	12	16	10	3	0	0	3	0	3	0	0	0	4	0	4	1	2	1	2	1	2	5	8			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:59548030G>C	ENST00000038176.3	-	3	437	c.225C>G	c.(223-225)atC>atG	p.I75M	NSMAF_ENST00000427130.2_Missense_Mutation_p.I106M	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	75					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TATTTACCTTGATGATGGGCT	0.308													12	227					0	0	0	0	C	59548030	G	C	59548030	3	2	197	1	0	0	0	0	1	0	0	0	10745	1280	45	2	2644	2	NSMAF	8	59548030	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	33397	59548030	86815992	263	34984											
BHLHE22	27319	broad.mit.edu	37	chr8	65493499	65493499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccctggcgccgccgcctcGggaacgcccggcgtcctcct	2	6	13	20	7	0	0	0	0	0	0	4	1	3	1	7	3	1	0	7	3	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:65493499G>A	ENST00000321870.1	+	1	686	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CCGCCGCCTCGGGAACGCCCG	0.736													8	5					0	0	0	0	A	65493499	G	A	65493499	3	1	197	1	0	0	0	0	1	0	0	0	1426	1116	39	1	154	1	BHLHE22	8	65493499	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	5945469	65493499	80870523	264	34985											
ZFHX4	79776	broad.mit.edu	37	chr8	77767550	77767550	+	Frame_Shift_Del	DEL	C	C	-																															tgggtatgatcaaaataaaaCcgattttgatgagacttcat																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:77767550delC	ENST00000521891.2	+	10	8841	c.8393delC	c.(8392-8394)acfs	p.T2798fs	ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.T2772fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.T2753fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.T2753fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2753						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAAATAAAACCGATTTTGAT	0.438										HNSCC(33;0.089)			24	21	---	---	---	---					-	77767550	C	-	77767550	7	5	197	1	0	1	0	1	0	0	0	0	17730	507	18	0	8427	0	ZFHX4	8	77767550	Frame_Shift_Del	DEL	C	TCGA-CR-7370-01A-11D-2129-08	12274051	77767550	68596472	265	34986											
ATP6V0D2	245972	broad.mit.edu	37	chr8	87126074	87126074	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtatttccggaatcattcCctggagcccctcagcacatt	9	11	8	13	1	2	0	2	0	0	0	4	3	4	2	4	2	2	2	4	2	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:87126074C>A	ENST00000285393.3	+	2	409	c.267C>A	c.(265-267)tcC>tcA	p.S89S	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	89					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GGAATCATTCCCTGGAGCCCC	0.423													25	121					4.59853e-10	5.64984e-10	1	0	A	87126074	C	A	87126074	2	1	197	1	0	0	0	0	0	0	0	1	1178	610	22	4		4	ATP6V0D2	8	87126074	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	9358524	87126074	59237948	266	34987											
MMP16	4325	broad.mit.edu	37	chr8	89128829	89128829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggataggagggtctgccGgttggaggccgaggaggttt	6	8	20	7	3	1	0	0	0	1	0	1	5	1	4	3	8	1	2	3	8	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:89128829G>A	ENST00000286614.6	-	6	1271	c.990C>T	c.(988-990)acC>acT	p.T330T	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	330					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						AGGGTCTGCCGGTTGGAGGCC	0.532													78	56					0	0	0	0	A	89128829	G	A	89128829	2	1	197	1	0	0	0	0	0	0	0	1	9724	1103	39	1		1	MMP16	8	89128829	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2002755	89128829	57235193	267	34988											
RIPK2	8767	broad.mit.edu	37	chr8	90777691	90777691	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcatgacttgaagactcaGaatatcttattggacaatga	15	12	7	7	0	3	5	2	3	1	2	3	6	3	6	0	1	0	0	0	1	5	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:90777691G>A	ENST00000220751.4	+	3	764	c.450G>A	c.(448-450)caG>caA	p.Q150Q	RIPK2_ENST00000540020.1_Silent_p.Q13Q	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	150	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TGAAGACTCAGAATATCTTAT	0.313													7	90					0	0	0	0	A	90777691	G	A	90777691	2	1	197	1	0	0	0	0	0	0	0	1	13466	933	33	2		2	RIPK2	8	90777691	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1648862	90777691	55586331	268	34989											
CALB1	793	broad.mit.edu	37	chr8	91081386	91081386	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctttcttataccttcAtgaattcctcacaggacttc	9	14	6	12	0	3	1	2	1	1	0	5	2	4	2	2	2	2	2	2	2	3	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:91081386A>T	ENST00000265431.3	-	4	492	c.311T>A	c.(310-312)aTg>aAg	p.M104K	CALB1_ENST00000518457.1_Missense_Mutation_p.M47K	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	104	EF-hand 3.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTATACCTTCATGAATTCCTC	0.378													8	57					0	0	0	0	T	91081386	A	T	91081386	3	4	197	1	0	0	0	0	1	0	0	0	2598	217	8	5	506	5	CALB1	8	91081386	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	303695	91081386	55282636	269	34990											
RUNX1T1	862	broad.mit.edu	37	chr8	93003956	93003956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatggccatatcatccaaaCggtaatgctgaggtggaggt	12	9	12	8	1	1	1	1	1	0	0	2	2	2	2	2	5	2	2	2	5	4	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:93003956C>T	ENST00000523629.1	-	7	1356	c.902G>A	c.(901-903)cGt>cAt	p.R301H	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R264H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R264H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R274H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R312H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R264H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R274H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R301H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	301					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)			ATCATCCAAACGGTAATGCTG	0.552													20	124					0	0	0	0	T	93003956	C	T	93003956	3	4	197	1	0	0	0	0	1	0	0	0	13832	536	19	1	936	1	RUNX1T1	8	93003956	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1922570	93003956	53360066	270	34991											
RUNX1T1	862	broad.mit.edu	37	chr8	93027017	93027017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagggggcgccattcaaGgctgtaggagaatggctcgt	8	8	18	7	2	1	2	1	1	0	1	2	3	1	2	1	6	0	3	1	6	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:93027017G>A	ENST00000523629.1	-	4	712	c.258C>T	c.(256-258)gcC>gcT	p.A86A	RUNX1T1_ENST00000521553.1_Silent_p.A49A|RUNX1T1_ENST00000520724.1_Silent_p.A49A|RUNX1T1_ENST00000422361.2_Silent_p.A49A|RUNX1T1_ENST00000518844.1_Silent_p.A59A|RUNX1T1_ENST00000436581.2_Silent_p.A97A|RUNX1T1_ENST00000360348.2_Silent_p.A49A|RUNX1T1_ENST00000396218.1_Silent_p.A59A|RUNX1T1_ENST00000265814.3_Silent_p.A86A	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	86					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)			CGCCATTCAAGGCTGTAGGAG	0.512													8	51					0	0	0	0	A	93027017	G	A	93027017	2	1	197	1	0	0	0	0	0	0	0	1	13832	987	35	4		4	RUNX1T1	8	93027017	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	23061	93027017	53337005	271	34992											
FAM135B	51059	broad.mit.edu	37	chr8	139149455	139149455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatgaaatggcacataaCggtcttggggagaagcaacc	14	7	12	8	1	1	3	0	2	1	1	1	4	1	3	1	4	3	2	1	4	5	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:139149455C>G	ENST00000395297.1	-	19	4120	c.3950G>C	c.(3949-3951)cGt>cCt	p.R1317P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1317										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGCACATAACGGTCTTGGGG	0.413										HNSCC(54;0.14)			24	117					0	0	0	0	G	139149455	C	G	139149455	3	3	197	1	0	0	0	0	1	0	0	0	5490	536	19	3	278	3	FAM135B	8	139149455	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	46122438	139149455	7214567	272	34993											
COL22A1	169044	broad.mit.edu	37	chr8	139603718	139603718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccaactccaggtgcacCtgggtcacctttggctcctc	6	9	11	15	0	1	0	1	0	0	0	4	1	3	0	5	4	2	2	5	4	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:139603718C>T	ENST00000303045.6	-	64	5088	c.4642G>A	c.(4642-4644)Ggt>Agt	p.G1548S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1528S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1548	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGTGCACCTGGGTCACCT	0.602										HNSCC(7;0.00092)			3	19					0	0	0	0	T	139603718	C	T	139603718	3	4	197	1	0	0	0	0	1	0	0	0	3711	681	24	4	246	4	COL22A1	8	139603718	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	454263	139603718	6760304	273	34994											
RPL8	6132	broad.mit.edu	37	chr8	146017246	146017246	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttaaaccgatacggatcCcggaagaccaccttggcgag	11	8	10	12	4	1	1	0	0	1	1	2	5	2	3	4	3	2	0	4	3	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:146017246C>A	ENST00000262584.3	-	3	424	c.192G>T	c.(190-192)cgG>cgT	p.R64R	RPL8_ENST00000528957.1_Silent_p.R64R|RPL8_ENST00000527914.1_Intron|RPL8_ENST00000529163.1_Intron|RPL8_ENST00000394920.2_Silent_p.R64R	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	64					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		GATACGGATCCCGGAAGACCA	0.657													33	171					3.28013e-08	3.84656e-08	1	0	A	146017246	C	A	146017246	2	1	197	1	0	0	0	0	0	0	0	1	13687	610	22	4		4	RPL8	8	146017246	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	6413528	146017246	346776	274	34995											
CDKN2A	1029	broad.mit.edu	37	chr9	21971035	21971035	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcagacggccccaggcaTcgcgcacgtccagccgcgcc	6	2	14	19	7	0	1	0	0	0	1	2	1	1	1	5	3	1	3	5	3	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:21971035T>A	ENST00000304494.5	-	2	593	c.323A>T	c.(322-324)gAt>gTt	p.D108V	CDKN2A_ENST00000361570.3_Silent_p.R163R|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Silent_p.R122R|CDKN2A_ENST00000579755.1_Silent_p.R122R|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	108			D -> H (in a bladder tumor).|D -> Y (in a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D108G(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R163R(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCCCAGGCATCGCGCACGTC	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			23	4					0	0	0	0	A	21971035	T	A	21971035	3	1	197	1	0	0	0	0	1	0	0	0	3190	1435	50	5	155	5	CDKN2A	9	21971035	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08		21971035	119242396	275	34996											
TAF1L	138474	broad.mit.edu	37	chr9	32633172	32633172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaaacaagggacactgctgGccaaccacaaaaatatccac	17	5	6	13	0	1	0	1	0	0	0	2	1	2	1	3	2	3	1	3	2	6	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:32633172G>A	ENST00000242310.4	-	1	2495	c.2406C>T	c.(2404-2406)ggC>ggT	p.G802G		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	802					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACACTGCTGGCCAACCACAA	0.423													53	112					0	0	0	0	A	32633172	G	A	32633172	2	1	197	1	0	0	0	0	0	0	0	1	15614	1190	42	4		4	TAF1L	9	32633172	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	10662137	32633172	108580259	276	34997											
FOXB2	442425	broad.mit.edu	37	chr9	79634859	79634859	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accccgactgcggggacatgTtcgagaacggcagcttcctg	8	7	13	13	4	0	1	0	0	0	1	2	4	1	2	3	3	3	3	3	3	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:79634859T>A	ENST00000376708.1	+	1	289	c.289T>A	c.(289-291)Ttc>Atc	p.F97I		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	97					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CGGGGACATGTTCGAGAACGG	0.652													26	35					0	0	0	0	A	79634859	T	A	79634859	3	1	197	1	0	0	0	0	1	0	0	0	6038	1725	60	5	291	5	FOXB2	9	79634859	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	47001687	79634859	61578572	277	34998											
TBC1D2	55357	broad.mit.edu	37	chr9	101017708	101017708	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaccgcctccagggacCgggcgcagtcccccgattct	5	6	14	16	4	1	0	0	0	1	0	3	3	3	2	6	4	0	1	6	4	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:101017708C>G	ENST00000375066.5	-	1	207	c.116G>C	c.(115-117)cGg>cCg	p.R39P	TBC1D2_ENST00000375064.1_Missense_Mutation_p.R39P|TBC1D2_ENST00000342112.5_5'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	39	Interaction with CADH1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CTCCAGGGACCGGGCGCAGTC	0.637													14	30					0	0	0	0	G	101017708	C	G	101017708	3	3	197	1	0	0	0	0	1	0	0	0	15699	652	23	3	2689	3	TBC1D2	9	101017708	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	21382849	101017708	40195723	278	34999											
KIF12	113220	broad.mit.edu	37	chr9	116858353	116858353	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggccagcaggcttcggttGatgctgttagcctcaagcat	8	10	13	10	1	1	1	1	1	0	0	2	1	1	1	2	3	4	6	2	3	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:116858353G>C	ENST00000374118.3	-	6	696	c.459C>G	c.(457-459)atC>atG	p.I153M	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	286	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GGCTTCGGTTGATGCTGTTAG	0.617													39	68					0	0	0	0	C	116858353	G	C	116858353	3	2	197	1	0	0	0	0	1	0	0	0	8324	1280	45	2	1126	2	KIF12	9	116858353	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	15840645	116858353	24355078	279	35000											
TLR4	7099	broad.mit.edu	37	chr9	120476132	120476132	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtctagctttcttaaatCttactcagaatgactttgct	10	17	6	8	0	4	2	1	1	3	1	4	2	4	2	0	0	3	3	0	0	6	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:120476132C>A	ENST00000355622.6	+	3	1827	c.1726C>A	c.(1726-1728)Ctt>Att	p.L576I	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.L536I	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	576					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTTCTTAAATCTTACTCAGAA	0.413													17	34					0.000422831	0.000449296	1	0	A	120476132	C	A	120476132	3	1	197	1	0	0	0	0	1	0	0	0	16047	913	32	2	1736	2	TLR4	9	120476132	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3617779	120476132	20737299	280	35001											
SPTAN1	6709	broad.mit.edu	37	chr9	131331097	131331097	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagctgaagtgcaggccaActcaggagccattgttaagc	12	8	12	9	0	1	2	1	2	0	0	1	3	1	3	2	2	5	3	2	2	4	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:131331097A>T	ENST00000372739.3	+	3	394	c.284A>T	c.(283-285)aAc>aTc	p.N95I	SPTAN1_ENST00000372731.4_Missense_Mutation_p.N95I|SPTAN1_ENST00000358161.5_Missense_Mutation_p.N95I	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	95					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTGCAGGCCAACTCAGGAGCC	0.488													54	9					0	0	0	0	T	131331097	A	T	131331097	3	4	197	1	0	0	0	0	1	0	0	0	15207	43	2	5	290	5	SPTAN1	9	131331097	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	10854965	131331097	9882334	281	35002											
RXRA	6256	broad.mit.edu	37	chr9	137293648	137293648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatgggcccgcctttctcgGtcatcagctcccccatgggc	4	9	11	17	2	3	0	2	0	1	0	5	0	4	0	4	3	1	2	4	3	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:137293648G>T	ENST00000481739.1	+	2	251	c.199G>T	c.(199-201)Gtc>Ttc	p.V67F	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	67	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCCTTTCTCGGTCATCAGCTC	0.697													124	40					4.56963e-79	7.53534e-79	1	0	T	137293648	G	T	137293648	3	4	197	1	0	0	0	0	1	0	0	0	13848	1261	44	4	205	4	RXRA	9	137293648	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	5962551	137293648	3919783	282	35003											
OLFM1	10439	broad.mit.edu	37	chr9	137998625	137998625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgacgggcatcagtgaccCcgtgactgtcaagacctccg	8	8	12	13	3	2	4	2	3	0	1	3	4	3	4	4	1	0	2	4	1	1	1	rs146984036		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:137998625C>A	ENST00000252854.4	+	5	840	c.653C>A	c.(652-654)cCc>cAc	p.P218H	OLFM1_ENST00000371793.3_Missense_Mutation_p.P236H|OLFM1_ENST00000371796.3_Missense_Mutation_p.P209H	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	236					nervous system development	endoplasmic reticulum lumen	protein binding	p.P218L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ATCAGTGACCCCGTGACTGTC	0.637													15	10					3.41278e-10	4.20685e-10	1	0	A	137998625	C	A	137998625	3	1	197	1	0	0	0	0	1	0	0	0	10923	623	22	4	681	4	OLFM1	9	137998625	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	704977	137998625	3214806	283	35004											
SNAPC4	6621	broad.mit.edu	37	chr9	139282935	139282935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgccgacgcgcatctcctGcaccagctgcgtgagcatgc	6	7	12	16	4	1	1	0	1	1	0	2	2	1	1	3	0	6	5	3	0	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:139282935G>T	ENST00000298532.2	-	10	1452	c.1084C>A	c.(1084-1086)Cag>Aag	p.Q362K		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	362	Myb-like 2.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGCATCTCCTGCACCAGCTGC	0.622													14	46					9.31168e-06	1.02745e-05	1	0	T	139282935	G	T	139282935	3	4	197	1	0	0	0	0	1	0	0	0	14925	1328	46	4	3377	4	SNAPC4	9	139282935	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1284310	139282935	1930496	284	35005											
LARP4B	23185	broad.mit.edu	37	chr10	875449	875449	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacgtcgcgtagcgctgcTgggcatacaggctcacgtcc	7	7	13	14	6	1	0	1	0	0	0	3	1	2	0	1	2	3	5	1	2	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:875449T>A	ENST00000316157.3	-	10	1041	c.1001A>T	c.(1000-1002)cAg>cTg	p.Q334L		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	334							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GTAGCGCTGCTGGGCATACAG	0.517													38	19					0	0	0	0	A	875449	T	A	875449	3	1	197	1	0	0	0	0	1	0	0	0	8684	1580	55	5	1247	5	LARP4B	10	875449	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08		875449	134659298	285	35006											
NET1	10276	broad.mit.edu	37	chr10	5498668	5498668	+	Frame_Shift_Del	DEL	C	C	-																															ctgtattcgagcggccattgCccccttccagtcggcaggca																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:5498668delC	ENST00000355029.4	+	12	1644	c.1502delC	c.(1501-1503)gcfs	p.A501fs	NET1_ENST00000542715.1_Frame_Shift_Del_p.A320fs|NET1_ENST00000380359.3_Frame_Shift_Del_p.A447fs	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	501	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	p.F503fs*9(1)|p.F449fs*9(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GCGGCCATTGCCCCCTTCCAG	0.602													42	25	---	---	---	---					-	5498668	C	-	5498668	7	5	197	1	0	1	0	1	0	0	0	0	10408	739	26	0	1645	0	NET1	10	5498668	Frame_Shift_Del	DEL	C	TCGA-CR-7370-01A-11D-2129-08	4623219	5498668	130036079	286	35007											
TAF3	83860	broad.mit.edu	37	chr10	8006089	8006089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactaaaggggacacgctaGatgttgtgttattggaagct	11	11	13	6	1	0	1	0	0	0	1	0	3	0	3	0	3	1	5	0	3	5	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:8006089G>A	ENST00000344293.5	+	3	822	c.616G>A	c.(616-618)Gat>Aat	p.D206N		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	206					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GGACACGCTAGATGTTGTGTT	0.478													36	28					0	0	0	0	A	8006089	G	A	8006089	3	1	197	1	0	0	0	0	1	0	0	0	15616	942	33	2	626	2	TAF3	10	8006089	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2507421	8006089	127528658	287	35008											
ARMC3	219681	broad.mit.edu	37	chr10	23248003	23248003	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttcctttgtagatgaTgttaaaaaattgttaaggga	12	17	9	3	0	1	2	0	1	1	1	2	3	2	3	1	1	0	4	1	1	5	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:23248003T>A	ENST00000298032.5	+	5	381	c.297T>A	c.(295-297)gaT>gaA	p.D99E	ARMC3_ENST00000409983.3_Missense_Mutation_p.D99E|ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000409049.3_Missense_Mutation_p.D99E|ARMC3_ENST00000376528.4_5'UTR	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	99							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGTAGATGATGTTAAAAAAT	0.373													30	27					0	0	0	0	A	23248003	T	A	23248003	3	1	197	1	0	0	0	0	1	0	0	0	956	1461	51	5	311	5	ARMC3	10	23248003	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	15241914	23248003	112286744	288	35009											
PARD3	56288	broad.mit.edu	37	chr10	34671813	34671813	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccacatggaaccaaatgaTgggtgtacgcatggcttggc	12	8	12	9	1	0	1	0	1	0	0	0	2	0	2	2	4	3	3	2	4	4	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:34671813T>C	ENST00000374789.3	-	9	1379	c.1054A>G	c.(1054-1056)Atc>Gtc	p.I352V	PARD3_ENST00000374788.3_Missense_Mutation_p.I352V|PARD3_ENST00000374773.1_Missense_Mutation_p.I352V|PARD3_ENST00000544292.1_Missense_Mutation_p.I82V|PARD3_ENST00000374776.1_Missense_Mutation_p.I352V|PARD3_ENST00000374790.3_Missense_Mutation_p.I308V|PARD3_ENST00000350537.4_Missense_Mutation_p.I352V|PARD3_ENST00000374794.3_Missense_Mutation_p.I308V|PARD3_ENST00000346874.4_Missense_Mutation_p.I352V|PARD3_ENST00000340077.5_Missense_Mutation_p.I352V|PARD3_ENST00000545260.1_Missense_Mutation_p.I308V|PARD3_ENST00000545693.1_Missense_Mutation_p.I352V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	352	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AACCAAATGATGGGTGTACGC	0.398													66	50					0	0	0	0	C	34671813	T	C	34671813	3	2	197	1	0	0	0	0	1	0	0	0	11514	1464	51	5	3119	5	PARD3	10	34671813	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	11423810	34671813	100862934	289	35010											
ZNF32	7580	broad.mit.edu	37	chr10	44140211	44140211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttgaggatcctgtagcctCagagtggtcatatttgtggt	7	14	13	7	0	2	2	2	1	0	1	3	3	3	3	2	3	1	2	2	3	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:44140211C>T	ENST00000395797.1	-	3	297	c.109G>A	c.(109-111)Gag>Aag	p.E37K	ZNF32_ENST00000374433.2_Missense_Mutation_p.E37K|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_5'UTR	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		CCTGTAGCCTCAGAGTGGTCA	0.418													14	90					0	0	0	0	T	44140211	C	T	44140211	3	4	197	1	0	0	0	0	1	0	0	0	17933	835	29	2	716	2	ZNF32	10	44140211	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	9468398	44140211	91394536	290	35011											
CHAT	1103	broad.mit.edu	37	chr10	50863176	50863176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccacctacgagagcgCgtccatccgccgattccagg	7	6	12	16	5	0	1	0	0	0	1	3	3	3	1	6	2	3	0	6	2	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:50863176C>T	ENST00000395562.2	+	13	1893	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	CHAT_ENST00000337653.2_Missense_Mutation_p.A557V|CHAT_ENST00000339797.1_Missense_Mutation_p.A439V|CHAT_ENST00000455728.2_Missense_Mutation_p.A439V|CHAT_ENST00000351556.3_Missense_Mutation_p.A439V|CHAT_ENST00000395559.2_Missense_Mutation_p.A439V	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	557					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.A557V(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TACGAGAGCGCGTCCATCCGC	0.547													15	45					0	0	0	0	T	50863176	C	T	50863176	3	4	197	1	0	0	0	0	1	0	0	0	3342	768	27	1	1760	1	CHAT	10	50863176	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	6722965	50863176	84671571	291	35012											
DUPD1	338599	broad.mit.edu	37	chr10	76803730	76803730	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggccgcgttcagcacgtgCgtgaaccccgccttctgcag	5	8	13	15	5	2	1	1	1	1	0	2	1	2	1	4	1	4	3	4	1	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:76803730C>T	ENST00000338487.5	-	2	245	c.246G>A	c.(244-246)acG>acA	p.T82T		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	82	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCAGCACGTGCGTGAACCCCG	0.711													13	13					0	0	0	0	T	76803730	C	T	76803730	2	4	197	1	0	0	0	0	0	0	0	1	4840	755	27	1		1	DUPD1	10	76803730	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	25940554	76803730	58731017	292	35013											
MAT1A	4143	broad.mit.edu	37	chr10	82039969	82039969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcagccaggggaggaggccgGagcgcctgaggtctgccatc	7	4	18	12	2	1	1	0	1	1	0	2	4	1	4	4	6	3	1	4	6	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:82039969G>C	ENST00000372213.3	-	5	769	c.509C>G	c.(508-510)tCc>tGc	p.S170C		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	170					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GAGGAGGCCGGAGCGCCTGAG	0.577													48	29					0	0	0	0	C	82039969	G	C	82039969	3	2	197	1	0	0	0	0	1	0	0	0	9398	1174	41	2	698	2	MAT1A	10	82039969	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	5236239	82039969	53494778	293	35014											
GRID1	2894	broad.mit.edu	37	chr10	87614373	87614373	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggccagtgatgtggccCtgcagaagaggagaaaaacc	13	5	15	8	0	0	5	0	2	0	3	0	6	0	5	3	3	2	1	3	3	3	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:87614373C>A	ENST00000327946.7	-	8	1199		c.e8-1			NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1							cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGATGTGGCCCTGCAGAAGAG	0.498										Multiple Myeloma(13;0.14)			23	9					5.35356e-11	6.7325e-11	1	0	A	87614373	C	A	87614373	5	1	197	1	0	0	0	0	0	0	1	0	6821	695	24	4	1952	4	GRID1	10	87614373	Splice_Site	SNP	C	TCGA-CR-7370-01A-11D-2129-08	5574404	87614373	47920374	294	35015											
OPALIN	93377	broad.mit.edu	37	chr10	98105775	98105775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatagtaggacggtaacggtCatgcacaggttcctcgcttc	9	11	11	10	3	1	0	1	0	0	0	4	1	2	1	1	4	2	5	1	4	4	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:98105775C>T	ENST00000419479.1	-	7	826	c.319G>A	c.(319-321)Gac>Aac	p.D107N	OPALIN_ENST00000371172.3_Missense_Mutation_p.D117N|OPALIN_ENST00000393870.2_Missense_Mutation_p.D106N|OPALIN_ENST00000536387.1_Missense_Mutation_p.D107N|OPALIN_ENST00000393871.1_Missense_Mutation_p.D94N	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	117						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CGGTAACGGTCATGCACAGGT	0.507													59	41					0	0	0	0	T	98105775	C	T	98105775	3	4	197	1	0	0	0	0	1	0	0	0	10944	826	29	2	80	2	OPALIN	10	98105775	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	10491402	98105775	37428972	295	35016											
GBF1	8729	broad.mit.edu	37	chr10	104120033	104120033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacgaccgccataactcaGaggttatgattcacatggga	13	8	9	11	2	2	2	2	1	0	1	2	4	2	3	2	2	1	1	2	2	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:104120033G>A	ENST00000369983.3	+	12	1530	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	424					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)		CCATAACTCAGAGGTTATGAT	0.562													183	89					0	0	0	0	A	104120033	G	A	104120033	3	1	197	1	0	0	0	0	1	0	0	0	6320	943	33	2	1312	2	GBF1	10	104120033	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	6014258	104120033	31414714	296	35017											
TRIM8	81603	broad.mit.edu	37	chr10	104416663	104416663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggccagtacggggcggCgggcacagccagcggtgagg	6	2	22	11	5	0	1	0	1	0	0	0	1	0	1	2	8	3	2	2	8	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:104416663C>T	ENST00000302424.6	+	6	1330	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	403						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TACGGGGCGGCGGGCACAGCC	0.711													38	23					0	0	0	0	T	104416663	C	T	104416663	3	4	197	1	0	0	0	0	1	0	0	0	16643	768	27	1	1230	1	TRIM8	10	104416663	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	296630	104416663	31118084	297	35018											
GFRA1	2674	broad.mit.edu	37	chr10	117885028	117885028	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtcgaggttgcaggccttCgctgcatccaggcagttgtt	5	12	13	11	3	0	0	0	0	0	0	4	1	1	0	2	3	2	7	2	3	0	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:117885028C>T	ENST00000439649.3	-	5	826	c.459G>A	c.(457-459)gcG>gcA	p.A153A	GFRA1_ENST00000544592.1_Silent_p.A37A|GFRA1_ENST00000369236.1_Silent_p.A153A|GFRA1_ENST00000355422.6_Silent_p.A158A	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	158					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGCAGGCCTTCGCTGCATCCA	0.557													4	14					0	0	0	0	T	117885028	C	T	117885028	2	4	197	1	0	0	0	0	0	0	0	1	6398	871	31	1		1	GFRA1	10	117885028	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	13468365	117885028	17649719	298	35019											
IRF7	3665	broad.mit.edu	37	chr11	613308	613308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcctgggggtccgcccacctCccagtacaccttgcacttgc	5	8	10	18	1	0	0	0	0	0	0	2	0	2	0	6	2	3	2	6	2	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:613308C>T	ENST00000397566.1	-	7	1583	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	IRF7_ENST00000397574.2_Missense_Mutation_p.E379K|IRF7_ENST00000397570.1_Missense_Mutation_p.E350K|IRF7_ENST00000330243.5_Missense_Mutation_p.E392K|IRF7_ENST00000397562.3_Missense_Mutation_p.E86K|IRF7_ENST00000348655.6_Missense_Mutation_p.E350K|IRF7_ENST00000525445.1_Missense_Mutation_p.E273K	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	379					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGCCCACCTCCCAGTACACC	0.677													13	32					0	0	0	0	T	613308	C	T	613308	3	4	197	1	0	0	0	0	1	0	0	0	7888	864	30	2	388	2	IRF7	11	613308	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08		613308	134393208	299	35020											
MRGPRE	116534	broad.mit.edu	37	chr11	3249862	3249862	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaggtagatggcgaagggGtttctgtagacattggagct	10	10	17	4	1	1	2	0	0	1	2	1	5	1	4	0	6	1	4	0	6	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:3249862G>A	ENST00000389832.5	-	2	474	c.168C>T	c.(166-168)aaC>aaT	p.N56N	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.N55N			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	55						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCGAAGGGGTTTCTGTAGA	0.632													41	65					0	0	0	0	A	3249862	G	A	3249862	2	1	197	1	0	0	0	0	0	0	0	1	9834	1252	44	4		4	MRGPRE	11	3249862	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2636554	3249862	131756654	300	35021											
OR52K2	119774	broad.mit.edu	37	chr11	4470788	4470788	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttggcagccatcgacctGgtcctttcctcctcagcact	6	12	8	15	1	1	0	1	0	0	0	5	1	4	0	5	2	2	3	5	2	0	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:4470788G>T	ENST00000325719.4	+	1	264	c.219G>T	c.(217-219)ctG>ctT	p.L73L		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCGACCTGGTCCTTTCCT	0.527													74	107					4.12397e-46	6.66798e-46	1	0	T	4470788	G	T	4470788	2	4	197	1	0	0	0	0	0	0	0	1	11195	1335	47	4		4	OR52K2	11	4470788	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1220926	4470788	130535728	301	35022											
OR52A5	390054	broad.mit.edu	37	chr11	5153170	5153170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaggccttgaatcgtgcctCcttctggggcagctgaaaga	10	9	12	10	1	1	3	0	2	1	1	3	3	2	3	3	3	2	2	3	3	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:5153170C>T	ENST00000307388.1	-	1	702	c.703G>A	c.(703-705)Gag>Aag	p.E235K		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AATCGTGCCTCCTTCTGGGGC	0.418													48	47					0	0	0	0	T	5153170	C	T	5153170	3	4	197	1	0	0	0	0	1	0	0	0	11181	864	30	2	250	2	OR52A5	11	5153170	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	682382	5153170	129853346	302	35023											
OR51B6	390058	broad.mit.edu	37	chr11	5373014	5373014	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcacagggagattggccatGgagcctgcttctctcaggcc	8	9	12	12	0	3	1	2	0	1	1	4	3	3	2	3	4	2	1	3	4	0	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:5373014G>T	ENST00000380219.1	+	1	277	c.277G>T	c.(277-279)Gga>Tga	p.G93*	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTGGCCATGGAGCCTGCTT	0.483													52	62					7.06795e-37	1.12335e-36	1	0	T	5373014	G	T	5373014	4	4	197	1	0	0	0	0	0	1	0	0	11163	1349	47	4	279	4	OR51B6	11	5373014	Nonsense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	219844	5373014	129633502	303	35024											
OR52D1	390066	broad.mit.edu	37	chr11	5510563	5510563	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaactgtggctctgctggcCatgggactggattccattct	6	13	11	11	0	2	0	0	0	2	0	3	2	3	2	2	4	2	2	2	4	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:5510563C>A	ENST00000322641.5	+	1	649	c.627C>A	c.(625-627)gcC>gcA	p.A209A	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTGCTGGCCATGGGACTGG	0.483													93	167					1.10192e-24	1.66965e-24	1	0	A	5510563	C	A	5510563	2	1	197	1	0	0	0	0	0	0	0	1	11185	581	21	4		4	OR52D1	11	5510563	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	137549	5510563	129495953	304	35025											
OR10A4	283297	broad.mit.edu	37	chr11	6898646	6898646	+	Silent	SNP	C	C	A																															tctctcttctatagcactgcCatcctcacgtatttccgacc																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:6898646C>A	ENST00000379829.2	+	1	791	c.768C>A	c.(766-768)gcC>gcA	p.A256A		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATAGCACTGCCATCCTCACGT	0.527													53	71					4.88482e-21	7.12688e-21	1	0	A	6898646	C	A	6898646	2	1	197	1	0	0	0	0	0	0	0	1	10963	581	21	4		4	OR10A4	11	6898646	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1388083	6898646	128107870	305	35026	265	2									
OR10A4	283297	broad.mit.edu	37	chr11	6898647	6898647	+	Missense_Mutation	SNP	A	A	T																															ctctcttctatagcactgccAtcctcacgtatttccgaccc																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:6898647A>T	ENST00000379829.2	+	1	792	c.769A>T	c.(769-771)Atc>Ttc	p.I257F		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TAGCACTGCCATCCTCACGTA	0.527													52	72					0	0	0	0	T	6898647	A	T	6898647	3	4	197	1	0	0	0	0	1	0	0	0	10963	217	8	5	771	5	OR10A4	11	6898647	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	1	6898647	128107869	306	35027	265	2									
RIC3	79608	broad.mit.edu	37	chr11	8132424	8132424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccaagacagcaggatcctCgtcttcatgaaaacagcagg	13	7	10	11	1	2	2	1	1	1	1	4	3	3	3	2	2	4	2	2	2	3	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:8132424C>T	ENST00000396677.2	-	3	444	c.445G>A	c.(445-447)Gag>Aag	p.E149K	RIC3_ENST00000425599.2_Missense_Mutation_p.E230K|RIC3_ENST00000343202.4_Missense_Mutation_p.E310K|RIC3_ENST00000539720.1_Missense_Mutation_p.E262K|RIC3_ENST00000335425.7_Missense_Mutation_p.E129K|RIC3_ENST00000309737.6_Missense_Mutation_p.E311K|RIC3_ENST00000530060.1_5'UTR			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	311						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GCAGGATCCTCGTCTTCATGA	0.483													80	94					0	0	0	0	T	8132424	C	T	8132424	3	4	197	1	0	0	0	0	1	0	0	0	13437	893	31	1	182	1	RIC3	11	8132424	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1233777	8132424	126874092	307	35028											
C11orf16	56673	broad.mit.edu	37	chr11	8947492	8947492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctagcagagagcagcaaGgggcccagtgaaggggcctg	10	3	17	11	0	0	2	0	1	0	1	0	3	0	2	3	4	3	3	3	4	3	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:8947492G>A	ENST00000326053.5	-	5	828	c.722C>T	c.(721-723)cCt>cTt	p.P241L	C11orf16_ENST00000525780.1_Missense_Mutation_p.P241L	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	241										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		AGAGCAGCAAGGGGCCCAGTG	0.612													14	91					0	0	0	0	A	8947492	G	A	8947492	3	1	197	1	0	0	0	0	1	0	0	0	1641	1000	35	4	689	4	C11orf16	11	8947492	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	815068	8947492	126059024	308	35029											
MRGPRX3	117195	broad.mit.edu	37	chr11	18158862	18158862	+	Frame_Shift_Del	DEL	C	C	-																															ggggctgacgtgcatcgtttCccttgtcgcgctgacaggaa																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:18158862delC	ENST00000396275.2	+	3	474	c.113delC	c.(112-114)tcfs	p.S38fs		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	38						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGCATCGTTTCCCTTGTCGCG	0.592													78	164	---	---	---	---					-	18158862	C	-	18158862	7	5	197	1	0	1	0	1	0	0	0	0	9838	855	30	0	115	0	MRGPRX3	11	18158862	Frame_Shift_Del	DEL	C	TCGA-CR-7370-01A-11D-2129-08	9211370	18158862	116847654	309	35030											
PRMT3	10196	broad.mit.edu	37	chr11	20483570	20483570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgtagcagtgagtgatGtgaataaacatgctgataga	13	11	12	5	0	0	5	0	4	0	1	0	5	0	5	1	0	3	3	1	0	5	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:20483570G>A	ENST00000331079.6	+	12	1334	c.1117G>A	c.(1117-1119)Gtg>Atg	p.V373M	PRMT3_ENST00000437750.2_Missense_Mutation_p.V311M	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	373							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AGTGAGTGATGTGAATAAACA	0.388													43	91					0	0	0	0	A	20483570	G	A	20483570	3	1	197	1	0	0	0	0	1	0	0	0	12618	1377	48	4	1163	4	PRMT3	11	20483570	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2324708	20483570	114522946	310	35031											
ANO5	203859	broad.mit.edu	37	chr11	22242683	22242683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagattctatcttcttccGagatgggattaggcaaattg	12	13	9	7	1	3	2	0	0	3	2	4	4	4	3	1	2	0	1	1	2	4	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:22242683G>T	ENST00000324559.8	+	5	538	c.221G>T	c.(220-222)cGa>cTa	p.R74L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	74						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCTTCTTCCGAGATGGGATT	0.353													23	32					1.17739e-12	1.54301e-12	1	0	T	22242683	G	T	22242683	3	4	197	1	0	0	0	0	1	0	0	0	699	1058	37	3	239	3	ANO5	11	22242683	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1759113	22242683	112763833	311	35032											
IMMP1L	196294	broad.mit.edu	37	chr11	31484808	31484808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtcgaaaggttttccccaGaacaccacgaagcatagttc	14	8	8	11	2	0	1	0	0	0	1	3	3	1	1	3	1	2	3	3	1	5	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:31484808G>A	ENST00000278200.1	-	3	211	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	IMMP1L_ENST00000532287.1_Silent_p.L6L|IMMP1L_ENST00000528161.1_Intron|IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000526776.1_Silent_p.L6L	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	6					proteolysis	mitochondrial inner membrane	serine-type peptidase activity			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					GTTTTCCCCAGAACACCACGA	0.363													6	79					0	0	0	0	A	31484808	G	A	31484808	2	1	197	1	0	0	0	0	0	0	0	1	7769	933	33	2		2	IMMP1L	11	31484808	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	9242125	31484808	103521708	312	35033											
ALX4	60529	broad.mit.edu	37	chr11	44286554	44286554	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacaggctgcccatgtgCgtctggcccacgtgactgcc	7	7	11	16	2	1	1	0	1	1	0	1	1	1	1	4	2	4	1	4	2	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:44286554C>T	ENST00000329255.3	-	4	1189	c.1086G>A	c.(1084-1086)acG>acA	p.T362T		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	362					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TGCCCATGTGCGTCTGGCCCA	0.677													12	41					0	0	0	0	T	44286554	C	T	44286554	2	4	197	1	0	0	0	0	0	0	0	1	558	755	27	1		1	ALX4	11	44286554	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	12801746	44286554	90719962	313	35034											
ZNF408	79797	broad.mit.edu	37	chr11	46726538	46726538	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctcaaagagcaccaggtgGtacattcaggtgcccggccc	10	6	11	14	1	2	1	2	0	0	1	2	1	2	1	4	4	3	2	4	4	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:46726538G>C	ENST00000311764.2	+	5	1518	c.1288G>C	c.(1288-1290)Gta>Cta	p.V430L		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCACCAGGTGGTACATTCAGG	0.647													26	66					0	0	0	0	C	46726538	G	C	46726538	3	2	197	1	0	0	0	0	1	0	0	0	17983	1261	44	4	1338	4	ZNF408	11	46726538	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2439984	46726538	88279978	314	35035											
C1QTNF4	114900	broad.mit.edu	37	chr11	47611622	47611622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcgtcgcggttcttcatCagcttaaccgacagcgtctt	7	12	8	14	5	4	0	2	0	2	0	6	1	4	0	2	1	3	2	2	1	1	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:47611622C>T	ENST00000302514.3	-	2	1257	c.741G>A	c.(739-741)ctG>ctA	p.L247L		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	247	C1q 2.					extracellular region				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GGTTCTTCATCAGCTTAACCG	0.677													11	20					0	0	0	0	T	47611622	C	T	47611622	2	4	197	1	0	0	0	0	0	0	0	1	1984	813	29	2		2	C1QTNF4	11	47611622	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	885084	47611622	87394894	315	35036											
OR4S1	256148	broad.mit.edu	37	chr11	48327915	48327915	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctggtcatcatcaccatCaatgctagaaagaccctgaa	13	10	6	12	0	5	3	4	1	1	2	5	3	5	3	2	1	1	1	2	1	4	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:48327915C>A	ENST00000319988.1	+	1	141	c.141C>A	c.(139-141)atC>atA	p.I47I		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TCATCACCATCAATGCTAGAA	0.448													69	88					6.12789e-21	8.90571e-21	1	0	A	48327915	C	A	48327915	2	1	197	1	0	0	0	0	0	0	0	1	11153	816	29	2		2	OR4S1	11	48327915	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	716293	48327915	86678601	316	35037											
OR4P4	81300	broad.mit.edu	37	chr11	55405873	55405873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcactttgtttattctcttgGggttttcccaaaataagaac	10	16	7	8	0	1	1	0	0	1	1	3	1	2	1	1	2	1	3	1	2	5	8			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:55405873G>A	ENST00000314612.2	+	1	40	c.40G>A	c.(40-42)Ggg>Agg	p.G14R		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G14W(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TATTCTCTTGGGGTTTTCCCA	0.313													75	112					0	0	0	0	A	55405873	G	A	55405873	3	1	197	1	0	0	0	0	1	0	0	0	11151	1232	43	4	42	4	OR4P4	11	55405873	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	7077958	55405873	79600643	317	35038											
OR5W2	390148	broad.mit.edu	37	chr11	55681386	55681386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagtgtatctccaagaCtgataggatgatataacaat	16	10	9	6	0	1	4	0	2	1	2	2	5	1	5	1	1	2	2	1	1	6	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:55681386C>T	ENST00000344514.1	-	1	672	c.673G>A	c.(673-675)Gtc>Atc	p.V225I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATCTCCAAGACTGATAGGATG	0.403													20	45					0	0	0	0	T	55681386	C	T	55681386	3	4	197	1	0	0	0	0	1	0	0	0	11256	565	20	4	261	4	OR5W2	11	55681386	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	275513	55681386	79325130	318	35039											
OR5J2	282775	broad.mit.edu	37	chr11	55944656	55944656	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcactgctaaagctgtCatgttctgacacctccatga	9	13	6	13	0	3	2	2	2	1	0	5	2	5	2	3	0	2	3	3	0	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:55944656C>A	ENST00000312298.1	+	1	563	c.563C>A	c.(562-564)tCa>tAa	p.S188*		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTAAAGCTGTCATGTTCTGAC	0.438													47	77					2.13384e-23	3.21366e-23	1	0	A	55944656	C	A	55944656	4	1	197	1	0	0	0	0	0	1	0	0	11236	838	29	2	565	2	OR5J2	11	55944656	Nonsense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	263270	55944656	79061860	319	35040											
OR8J1	219477	broad.mit.edu	37	chr11	56128446	56128446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagccttttctacctgtGcttcacatatgatggcagtc	11	13	7	10	0	2	1	1	1	1	0	3	1	2	1	2	1	3	2	2	1	4	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:56128446G>A	ENST00000303039.3	+	1	756	c.724G>A	c.(724-726)Gct>Act	p.A242T		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTCTACCTGTGCTTCACATAT	0.348													49	79					0	0	0	0	A	56128446	G	A	56128446	3	1	197	1	0	0	0	0	1	0	0	0	11312	1319	46	4	726	4	OR8J1	11	56128446	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	183790	56128446	78878070	320	35041											
SERPING1	710	broad.mit.edu	37	chr11	57379390	57379390	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaccagccaggatatgctCtcaatcatggagaaattggg	13	8	11	9	1	2	1	2	0	1	1	3	4	2	2	2	3	2	1	2	3	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:57379390C>A	ENST00000403558.1	+	6	1725	c.1359C>A	c.(1357-1359)ctC>ctA	p.L453L	SERPING1_ENST00000378324.2_Silent_p.L358L|SERPING1_ENST00000278407.4_Silent_p.L410L|SERPING1_ENST00000378323.4_Silent_p.L415L|SERPING1_ENST00000340687.6_Silent_p.L373L	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	410					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AGGATATGCTCTCAATCATGG	0.502													28	49					3.70037e-05	4.00606e-05	1	0	A	57379390	C	A	57379390	2	1	197	1	0	0	0	0	0	0	0	1	14203	900	32	2		2	SERPING1	11	57379390	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1250944	57379390	77627126	321	35042											
OR5B17	219965	broad.mit.edu	37	chr11	58126398	58126398	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtggagatgagagtccaGcaggattaatatgatcatcc	13	10	12	6	0	1	3	1	2	0	2	3	6	3	4	2	2	1	1	2	2	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:58126398G>C	ENST00000357377.3	-	1	144	c.145C>G	c.(145-147)Ctg>Gtg	p.L49V		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAGAGTCCAGCAGGATTAAT	0.463													40	71					0	0	0	0	C	58126398	G	C	58126398	3	2	197	1	0	0	0	0	1	0	0	0	11220	962	34	4	801	4	OR5B17	11	58126398	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	747008	58126398	76880118	322	35043											
TCN1	6947	broad.mit.edu	37	chr11	59626621	59626621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctcagacagaatcttttCtaccagtgactttgtataaa	12	16	5	8	0	3	3	1	1	3	2	4	3	3	3	1	0	1	1	1	0	5	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:59626621C>G	ENST00000257264.3	-	5	780	c.676G>C	c.(676-678)Gaa>Caa	p.E226Q	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	226					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGAATCTTTTCTACCAGTGAC	0.413													56	105					0	0	0	0	G	59626621	C	G	59626621	3	3	197	1	0	0	0	0	1	0	0	0	15800	922	32	2	645	2	TCN1	11	59626621	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1500223	59626621	75379895	323	35044											
ZP1	22917	broad.mit.edu	37	chr11	60637115	60637115	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccaaacctgacccctccCggactctggactcccagctg	7	7	8	19	1	1	1	0	1	1	0	4	3	4	3	6	2	2	1	6	2	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:60637115C>A	ENST00000278853.5	+	3	424	c.424C>A	c.(424-426)Cgg>Agg	p.R142R		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	142					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGACCCCTCCCGGACTCTGGA	0.597													20	27					3.08376e-08	3.62767e-08	1	0	A	60637115	C	A	60637115	2	1	197	1	0	0	0	0	0	0	0	1	18308	643	23	3		3	ZP1	11	60637115	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1010494	60637115	74369401	324	35045											
DDB1	1642	broad.mit.edu	37	chr11	61094321	61094321	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttattgaattccttttcTcggagagacacctcataggt	9	14	7	11	1	2	2	1	1	1	1	4	4	3	3	3	2	0	0	3	2	3	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:61094321T>A	ENST00000301764.7	-	5	991	c.594A>T	c.(592-594)cgA>cgT	p.R198R	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	198	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATTCCTTTTCTCGGAGAGACA	0.522								Nucleotide excision repair (NER)					97	158					0	0	0	0	A	61094321	T	A	61094321	2	1	197	1	0	0	0	0	0	0	0	1	4355	1538	54	5		5	DDB1	11	61094321	Silent	SNP	T	TCGA-CR-7370-01A-11D-2129-08	457206	61094321	73912195	325	35046											
AHNAK	79026	broad.mit.edu	37	chr11	62296993	62296993	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccttcaacttcccttcTggaccttcaatatcaatatc	9	13	5	14	0	4	0	3	0	1	0	6	1	5	1	3	2	1	0	3	2	5	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:62296993T>C	ENST00000378024.4	-	5	5170	c.4896A>G	c.(4894-4896)ccA>ccG	p.P1632P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1632					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTCCCTTCTGGACCTTCAA	0.473													99	142					0	0	0	0	C	62296993	T	C	62296993	2	2	197	1	0	0	0	0	0	0	0	1	414	1567	55	5		5	AHNAK	11	62296993	Silent	SNP	T	TCGA-CR-7370-01A-11D-2129-08	1202672	62296993	72709523	326	35047											
NRXN2	9379	broad.mit.edu	37	chr11	64415749	64415749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtcgcaggtgaagccatcCcactgctgcaagcagacgcc	10	5	11	15	2	0	2	0	1	0	1	2	2	1	2	3	1	4	4	3	1	2	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:64415749C>A	ENST00000265459.6	-	17	3806	c.3345G>T	c.(3343-3345)tgG>tgT	p.W1115C	NRXN2_ENST00000409571.1_Missense_Mutation_p.W1108C|NRXN2_ENST00000377551.1_Missense_Mutation_p.W1115C|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.W1075C	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1115	EGF-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGAAGCCATCCCACTGCTGCA	0.627													34	62					1.62565e-12	2.123e-12	1	0	A	64415749	C	A	64415749	3	1	197	1	0	0	0	0	1	0	0	0	10737	624	22	4	2090	4	NRXN2	11	64415749	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2118756	64415749	70590767	327	35048											
ANKRD13D	338692	broad.mit.edu	37	chr11	67068516	67068516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctctccctgggtgaccagGtgacccccatcatcgaccta	7	8	9	17	2	2	2	1	2	1	0	4	3	2	2	5	2	0	1	5	2	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:67068516G>T	ENST00000447274.2	+	11	2043	c.868G>T	c.(868-870)Gtg>Ttg	p.V290L	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.V377L|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.V290L|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.V27L|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.V290L			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	290										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGGTGACCAGGTGACCCCCAT	0.607													16	29					3.52763e-06	3.93305e-06	1	0	T	67068516	G	T	67068516	3	4	197	1	0	0	0	0	1	0	0	0	644	1261	44	4	1171	4	ANKRD13D	11	67068516	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2652767	67068516	67938000	328	35049											
TBX10	347853	broad.mit.edu	37	chr11	67399229	67399229	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cttgggatccctaggtggctCggggctccagagtacaggct	6	9	15	11	1	0	1	0	0	0	1	3	2	2	2	2	6	1	4	2	6	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:67399229C>G	ENST00000335385.3	-	8	1092	c.1005G>C	c.(1003-1005)ccG>ccC	p.P335P		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	335					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CTAGGTGGCTCGGGGCTCCAG	0.652													7	12					0	0	0	0	G	67399229	C	G	67399229	2	3	197	1	0	0	0	0	0	0	0	1	15745	871	31	3		3	TBX10	11	67399229	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	330713	67399229	67607287	329	35050											
LRP5	4041	broad.mit.edu	37	chr11	68181317	68181317	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccagggccacctggacttCgtgatggacatcctggtgtt	7	11	12	11	1	0	1	0	1	0	0	3	3	2	3	4	4	0	1	4	4	0	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:68181317C>T	ENST00000294304.7	+	12	2770	c.2664C>T	c.(2662-2664)ttC>ttT	p.F888F		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	888	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTGGACTTCGTGATGGACA	0.592													27	33					0	0	0	0	T	68181317	C	T	68181317	2	4	197	1	0	0	0	0	0	0	0	1	9024	883	31	1		1	LRP5	11	68181317	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	782088	68181317	66825199	330	35051											
SHANK2	22941	broad.mit.edu	37	chr11	70332941	70332941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acccacgaaatggttttcggGctccctgggcgtggcactcg	6	9	13	13	4	0	0	0	0	0	0	3	1	1	0	2	4	0	3	2	4	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:70332941G>T	ENST00000338508.4	-	32	3459	c.3460C>A	c.(3460-3462)Ccc>Acc	p.P1154T	SHANK2_ENST00000423696.2_Missense_Mutation_p.P774T|SHANK2_ENST00000449833.2_Missense_Mutation_p.P558T|SHANK2_ENST00000409161.1_Missense_Mutation_p.P557T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	774					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGTTTTCGGGCTCCCTGGGC	0.677													34	49					2.20262e-25	3.35103e-25	1	0	T	70332941	G	T	70332941	3	4	197	1	0	0	0	0	1	0	0	0	14353	1203	42	4	2100	4	SHANK2	11	70332941	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2151624	70332941	64673575	331	35052											
KRTAP5-9	3846	broad.mit.edu	37	chr11	71260116	71260116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagccctgctgctcatcctCaggctgtgggtcatcctgct	5	11	10	15	0	3	0	3	0	0	0	5	0	5	0	3	2	4	4	3	2	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:71260116C>T	ENST00000528743.2	+	1	651	c.413C>T	c.(412-414)tCa>tTa	p.S138L		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	138	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						TGCTCATCCTCAGGCTGTGGG	0.612													93	163					0	0	0	0	T	71260116	C	T	71260116	3	4	197	1	0	0	0	0	1	0	0	0	8621	838	29	2	415	2	KRTAP5-9	11	71260116	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	927175	71260116	63746400	332	35053											
P4HA3	283208	broad.mit.edu	37	chr11	74013546	74013546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacattgagcatgtacacGtcctgcagccgcatcagggc	9	9	10	13	2	2	1	2	1	0	0	3	1	3	1	2	1	4	4	2	1	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:74013546G>T	ENST00000331597.4	-	3	480	c.435C>A	c.(433-435)gaC>gaA	p.D145E	P4HA3_ENST00000427714.2_Missense_Mutation_p.D145E	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	145						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GCATGTACACGTCCTGCAGCC	0.552													56	109					5.82218e-30	9.06077e-30	1	0	T	74013546	G	T	74013546	3	4	197	1	0	0	0	0	1	0	0	0	11429	1136	40	3	1243	3	P4HA3	11	74013546	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2753430	74013546	60992970	333	35054											
CHRDL2	25884	broad.mit.edu	37	chr11	74408263	74408263	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctaccttcgtgggggccAgcgagcagtcggaagtgctg	6	8	15	12	3	0	0	0	0	0	0	3	2	1	1	3	3	4	2	3	3	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:74408263A>G	ENST00000263671.5	-	11	1541	c.1255T>C	c.(1255-1257)Tgg>Cgg	p.W419R	CHRDL2_ENST00000376332.3_Silent_p.A400A	NM_015424.3	NP_056239.3	Q6WN34	CRDL2_HUMAN	chordin-like 2	0					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CGTGGGGGCCAGCGAGCAGTC	0.587													40	68					0	0	0	0	G	74408263	A	G	74408263	3	3	197	1	0	0	0	0	1	0	0	0	3403	188	7	5	108	5	CHRDL2	11	74408263	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	394717	74408263	60598253	334	35055											
OR2AT4	341152	broad.mit.edu	37	chr11	74800700	74800700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctctggcagagaggggatgCccaatagatagaagacgggt	12	7	15	7	1	1	4	0	0	1	4	2	6	1	5	1	4	1	1	1	4	4	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:74800700C>T	ENST00000305159.3	-	1	99	c.59G>A	c.(58-60)gGc>gAc	p.G20D		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGAGGGGATGCCCAATAGATA	0.507													28	39					0	0	0	0	T	74800700	C	T	74800700	3	4	197	1	0	0	0	0	1	0	0	0	11058	739	26	4	906	4	OR2AT4	11	74800700	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	392437	74800700	60205816	335	35056											
MMP12	4321	broad.mit.edu	37	chr11	102738033	102738033	+	RNA	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagatcttatttcccacGgtagtgacagcatcaaaact	16	10	6	9	1	2	2	1	1	1	1	3	2	3	2	1	1	2	2	1	1	6	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:102738033G>C	ENST00000532855.1	-	0	974							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TATTTCCCACGGTAGTGACAG	0.368													7	3					0	0	0	0	C	102738033	G	C	102738033	1	2	197	0	1	0	0	0	0	0	0	0	9720	1103	39	3		3	MMP12	11	102738033	RNA	SNP	G	TCGA-CR-7370-01A-11D-2129-08	27937333	102738033	32268483	336	35057											
PIH1D2	120379	broad.mit.edu	37	chr11	111938637	111938637	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attagcgtggatttttctttGataaattttgctgtggtcat	8	20	9	4	1	2	1	1	1	1	0	2	2	2	2	0	2	2	1	0	2	3	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:111938637G>C	ENST00000280350.4	-	6	1128	c.906C>G	c.(904-906)atC>atG	p.I302M	PIH1D2_ENST00000532211.1_Missense_Mutation_p.I302M|PIH1D2_ENST00000431456.1_Intron|PIH1D2_ENST00000528775.1_Intron	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	302										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		ATTTTTCTTTGATAAATTTTG	0.333													38	33					0	0	0	0	C	111938637	G	C	111938637	3	2	197	1	0	0	0	0	1	0	0	0	11979	1280	45	2	103	2	PIH1D2	11	111938637	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	9200604	111938637	23067879	337	35058											
DSCAML1	57453	broad.mit.edu	37	chr11	117299175	117299175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgtgggcccccggctcgtgGaggctcggtgctgggggccg	1	7	21	12	4	0	0	0	0	0	0	2	1	0	1	3	7	1	3	3	7	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:117299175G>A	ENST00000321322.6	-	33	6212	c.6211C>T	c.(6211-6213)Cca>Tca	p.P2071S	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1801S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2011					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGGCTCGTGGAGGCTCGGTG	0.746													7	6					0	0	0	0	A	117299175	G	A	117299175	3	1	197	1	0	0	0	0	1	0	0	0	4805	1174	41	2	134	2	DSCAML1	11	117299175	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	5360538	117299175	17707341	338	35059											
USP2	9099	broad.mit.edu	37	chr11	119229766	119229766	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttctcagggttggacttAggtctcagtgtcactcggtt	6	14	13	8	1	3	0	3	0	2	0	6	1	3	1	0	5	0	3	0	5	1	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:119229766A>T	ENST00000260187.2	-	6	1434	c.1140T>A	c.(1138-1140)ccT>ccA	p.P380P	USP2_ENST00000455332.2_Silent_p.P137P|USP2_ENST00000525735.1_Silent_p.P171P	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	380					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGTTGGACTTAGGTCTCAGTG	0.483													39	15					0	0	0	0	T	119229766	A	T	119229766	2	4	197	1	0	0	0	0	0	0	0	1	17147	407	15	5		5	USP2	11	119229766	Silent	SNP	A	TCGA-CR-7370-01A-11D-2129-08	1930591	119229766	15776750	339	35060											
OPCML	4978	broad.mit.edu	37	chr11	132306621	132306621	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcacagctcaggatgccCttctgaccgactgaaacacc	10	8	8	15	1	3	2	2	2	1	0	3	4	3	3	3	1	3	2	3	1	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:132306621C>T	ENST00000331898.7	-	5	1295	c.717G>A	c.(715-717)aaG>aaA	p.K239K	OPCML_ENST00000541867.1_Silent_p.K239K|OPCML_ENST00000374778.4_Silent_p.K198K|OPCML_ENST00000524381.1_Silent_p.K232K|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	239	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCAGGATGCCCTTCTGACCGA	0.502													21	21					0	0	0	0	T	132306621	C	T	132306621	2	4	197	1	0	0	0	0	0	0	0	1	10945	680	24	4		4	OPCML	11	132306621	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	13076855	132306621	2699895	340	35061											
IGSF9B	22997	broad.mit.edu	37	chr11	133790844	133790844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaccgagggctgtatgctgGtggtggcaggtaggactcct	7	9	17	8	1	0	0	0	0	0	0	1	3	1	1	2	6	2	5	2	6	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:133790844G>T	ENST00000321016.8	-	18	3006	c.2776C>A	c.(2776-2778)Cca>Aca	p.P926T	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P926T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	926	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGTATGCTGGTGGTGGCAGG	0.706													32	21					2.80507e-11	3.55754e-11	1	0	T	133790844	G	T	133790844	3	4	197	1	0	0	0	0	1	0	0	0	7659	1261	44	4	1281	4	IGSF9B	11	133790844	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1484223	133790844	1215672	341	35062											
IQSEC3	440073	broad.mit.edu	37	chr12	266858	266858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacttcatccgaaaccttcGaggtgaggaggtgggcactg	9	8	15	9	2	1	1	1	1	0	0	3	5	2	3	2	5	1	1	2	5	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:266858G>A	ENST00000538872.1	+	7	2559	c.2441G>A	c.(2440-2442)cGa>cAa	p.R814Q	IQSEC3_ENST00000382841.2_Missense_Mutation_p.R511Q|IQSEC3_ENST00000326261.4_Missense_Mutation_p.R814Q			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	814	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGAAACCTTCGAGGTGAGGAG	0.587													5	57					0	0	0	0	A	266858	G	A	266858	3	1	197	1	0	0	0	0	1	0	0	0	7872	1058	37	1	2467	1	IQSEC3	12	266858	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08		266858	133585037	342	35063											
AKAP3	10566	broad.mit.edu	37	chr12	4747326	4747326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcaactttgcatactcCattttggctttgtaaccagt	10	15	6	10	0	1	0	1	0	0	0	2	1	2	0	2	1	4	3	2	1	3	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:4747326C>T	ENST00000545990.2	-	4	561	c.37G>A	c.(37-39)Gga>Aga	p.G13R	AKAP3_ENST00000228850.1_Missense_Mutation_p.G13R	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	13					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.G13*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTGCATACTCCATTTTGGCTT	0.408													44	149					0	0	0	0	T	4747326	C	T	4747326	3	4	197	1	0	0	0	0	1	0	0	0	452	603	21	4	2536	4	AKAP3	12	4747326	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4480468	4747326	129104569	343	35064											
GAPDH	2597	broad.mit.edu	37	chr12	6646845	6646845	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggctctccagaacatcatCcctgcctctactggcgctgc	6	9	10	16	1	3	1	1	0	2	1	5	1	4	1	3	3	4	2	3	3	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:6646845C>A	ENST00000229239.5	+	8	1287	c.621C>A	c.(619-621)atC>atA	p.I207I	GAPDH_ENST00000396856.1_Silent_p.I132I|GAPDH_ENST00000396858.1_Silent_p.I165I|GAPDH_ENST00000396859.1_Silent_p.I207I|GAPDH_ENST00000396861.1_Silent_p.I207I	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	207					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	AGAACATCATCCCTGCCTCTA	0.622											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	16					0.000308642	0.000328427	1	0	A	6646845	C	A	6646845	2	1	197	1	0	0	0	0	0	0	0	1	6285	845	30	2		2	GAPDH	12	6646845	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1899519	6646845	127205050	344	35065											
C1R	715	broad.mit.edu	37	chr12	7188341	7188341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtggacgctgaccctgCggatggggtgatttcctagc	5	9	16	11	3	0	2	0	2	0	0	1	4	1	4	3	5	2	1	3	5	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:7188341C>A	ENST00000542285.1	-	11	1606	c.1457G>T	c.(1456-1458)cGc>cTc	p.R486L				P00736	C1R_HUMAN	complement component 1, r subcomponent	538	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCTGACCCTGCGGATGGGGTG	0.552													30	98					2.46105e-21	3.59766e-21	1	0	A	7188341	C	A	7188341	3	1	197	1	0	0	0	0	1	0	0	0	1991	768	27	3	508	3	C1R	12	7188341	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	541496	7188341	126663554	345	35066											
BCL2L14	79370	broad.mit.edu	37	chr12	12232294	12232294	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccctagatgatgatgacCtaaacaccatagaattcaaa	16	9	5	11	0	1	5	1	3	0	2	2	5	2	5	4	0	1	0	4	0	6	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:12232294C>T	ENST00000266434.4	+	2	250	c.55C>T	c.(55-57)Cta>Tta	p.L19L	BCL2L14_ENST00000396369.1_Silent_p.L19L|BCL2L14_ENST00000308721.5_Silent_p.L19L|BCL2L14_ENST00000396367.1_Silent_p.L19L|BCL2L14_ENST00000586576.1_Silent_p.L52L|BCL2L14_ENST00000589718.1_Silent_p.L19L	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	19					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		TGATGATGACCTAAACACCAT	0.483													13	96					0	0	0	0	T	12232294	C	T	12232294	2	4	197	1	0	0	0	0	0	0	0	1	1376	680	24	4		4	BCL2L14	12	12232294	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	5043953	12232294	121619601	346	35067											
ADAMTS20	80070	broad.mit.edu	37	chr12	43769237	43769237	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgaaaacagtgtatccAgcagctaagtgtccattgtc	11	12	9	9	0	0	1	0	1	0	0	3	1	2	1	2	0	4	4	2	0	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:43769237A>G	ENST00000389420.3	-	36	5390	c.5391T>C	c.(5389-5391)gcT>gcC	p.A1797A		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1797	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAGTGTATCCAGCAGCTAAGT	0.338													15	57					0	0	0	0	G	43769237	A	G	43769237	2	3	197	1	0	0	0	0	0	0	0	1	266	175	7	5		5	ADAMTS20	12	43769237	Silent	SNP	A	TCGA-CR-7370-01A-11D-2129-08	31536943	43769237	90082658	347	35068											
ADAMTS20	80070	broad.mit.edu	37	chr12	43846439	43846439	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccttttggacatgaatcaGtattacatgatcgaaatttc	12	15	7	7	1	1	2	1	2	0	0	3	4	1	3	1	1	2	1	1	1	4	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:43846439G>C	ENST00000389420.3	-	13	1819	c.1820C>G	c.(1819-1821)aCt>aGt	p.T607S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T607S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	607	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACATGAATCAGTATTACATGA	0.403													3	20					0	0	0	0	C	43846439	G	C	43846439	3	2	197	1	0	0	0	0	1	0	0	0	266	1029	36	4	4019	4	ADAMTS20	12	43846439	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	77202	43846439	90005456	348	35069											
ADAMTS20	80070	broad.mit.edu	37	chr12	43847820	43847820	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttacaggacgtgtttcCgtttctttgtttacacatag	8	17	7	9	2	1	0	0	0	1	0	2	1	2	1	2	1	2	3	2	1	3	8			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:43847820C>T	ENST00000389420.3	-	12	1649	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	ADAMTS20_ENST00000553158.1_Silent_p.T550T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	550	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GACGTGTTTCCGTTTCTTTGT	0.398													4	34					0	0	0	0	T	43847820	C	T	43847820	2	4	197	1	0	0	0	0	0	0	0	1	266	639	23	1		1	ADAMTS20	12	43847820	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1381	43847820	90004075	349	35070											
ADCY6	112	broad.mit.edu	37	chr12	49164737	49164737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttccagctgccggaacCgctcctcgctgataatctga	7	12	8	14	3	2	2	0	2	2	0	5	3	4	3	4	1	3	3	4	1	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:49164737C>A	ENST00000307885.4	-	19	3762	c.3068G>T	c.(3067-3069)cGg>cTg	p.R1023L	ADCY6_ENST00000550422.1_Missense_Mutation_p.R970L|ADCY6_ENST00000357869.3_Missense_Mutation_p.R970L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1023					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGCCGGAACCGCTCCTCGCT	0.577													14	24					1.05317e-09	1.28549e-09	1	0	A	49164737	C	A	49164737	3	1	197	1	0	0	0	0	1	0	0	0	298	652	23	3	450	3	ADCY6	12	49164737	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	5316917	49164737	84687158	350	35071											
RHEBL1	121268	broad.mit.edu	37	chr12	49460759	49460759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaactggtacctgccctgCtgtgtccaccagatgtaggt	7	10	10	14	0	0	1	0	0	0	1	1	1	1	1	5	2	4	3	5	2	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:49460759C>T	ENST00000301068.6	-	3	423	c.184G>A	c.(184-186)Gca>Aca	p.A62T		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	62					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|large_intestine(2)|lung(5)	9						ACCTGCCCTGCTGTGTCCACC	0.453													5	66					0	0	0	0	T	49460759	C	T	49460759	3	4	197	1	0	0	0	0	1	0	0	0	13412	797	28	4	391	4	RHEBL1	12	49460759	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	296022	49460759	84391136	351	35072											
LIMA1	51474	broad.mit.edu	37	chr12	50594642	50594642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattttatgaattttgattTcgccaccactggctttcagc	8	16	6	11	1	1	2	1	2	0	0	2	2	1	2	3	1	1	1	3	1	2	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:50594642T>C	ENST00000341247.4	-	7	1039	c.890A>G	c.(889-891)gAa>gGa	p.E297G	LIMA1_ENST00000547825.1_5'UTR|LIMA1_ENST00000552783.1_Missense_Mutation_p.E137G|LIMA1_ENST00000394943.3_Missense_Mutation_p.E297G|LIMA1_ENST00000552823.1_Missense_Mutation_p.E137G|LIMA1_ENST00000552909.1_Missense_Mutation_p.E137G|LIMA1_ENST00000552008.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	297					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AATTTTGATTTCGCCACCACT	0.388													110	123					0	0	0	0	C	50594642	T	C	50594642	3	2	197	1	0	0	0	0	1	0	0	0	8850	1783	62	5	1412	5	LIMA1	12	50594642	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	1133883	50594642	83257253	352	35073											
SCN8A	6334	broad.mit.edu	37	chr12	52164414	52164414	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctcatcgtggagcacAactggtttgagaccttcatc	8	12	9	12	1	2	1	2	1	0	1	5	3	3	2	2	2	2	3	2	2	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:52164414A>G	ENST00000354534.5	+	19	3770	c.3592A>G	c.(3592-3594)Aac>Gac	p.N1198D	SCN8A_ENST00000545061.1_Missense_Mutation_p.N1198D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1198					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CGTGGAGCACAACTGGTTTGA	0.562													7	44					0	0	0	0	G	52164414	A	G	52164414	3	3	197	1	0	0	0	0	1	0	0	0	14011	130	5	5	3662	5	SCN8A	12	52164414	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	1569772	52164414	81687481	353	35074											
RARG	5916	broad.mit.edu	37	chr12	53621207	53621207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccggaagctagggctcagCatctcgaaaggcggagaccc	10	4	13	14	3	2	1	1	0	1	1	3	4	2	2	3	4	2	3	3	4	3	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:53621207C>G	ENST00000425354.2	-	3	610	c.123G>C	c.(121-123)atG>atC	p.M41I	RARG_ENST00000394426.1_Missense_Mutation_p.M41I|RARG_ENST00000327550.3_Intron|RARG_ENST00000543762.1_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	41	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TAGGGCTCAGCATCTCGAAAG	0.627													62	29					0	0	0	0	G	53621207	C	G	53621207	3	3	197	1	0	0	0	0	1	0	0	0	13136	710	25	4	1428	4	RARG	12	53621207	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1456793	53621207	80230688	354	35075											
ESPL1	9700	broad.mit.edu	37	chr12	53684657	53684657	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctagagaagtctgtgctGggctgctggaaggggctgct	6	10	16	9	0	1	1	0	0	1	1	2	3	2	2	1	4	3	5	1	4	3	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:53684657G>T	ENST00000257934.4	+	25	5488	c.5397G>T	c.(5395-5397)ctG>ctT	p.L1799L	ESPL1_ENST00000552462.1_Silent_p.L1799L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1799					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGTCTGTGCTGGGCTGCTGGA	0.592													8	11					1.06961e-07	1.23876e-07	1	0	T	53684657	G	T	53684657	2	4	197	1	0	0	0	0	0	0	0	1	5291	1335	47	4		4	ESPL1	12	53684657	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	63450	53684657	80167238	355	35076											
SLC16A7	9194	broad.mit.edu	37	chr12	60168743	60168743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgattcaagcccaaagaaaAtcaaaacgaagaaatcaact	22	6	5	8	1	3	3	3	1	0	2	3	4	3	3	1	0	3	0	1	0	9	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:60168743A>G	ENST00000261187.4	+	4	831	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	SLC16A7_ENST00000552024.1_Missense_Mutation_p.I223V|SLC16A7_ENST00000547379.1_Missense_Mutation_p.I223V|SLC16A7_ENST00000552432.1_Missense_Mutation_p.I223V|SLC16A7_ENST00000543448.1_Missense_Mutation_p.I124V	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	223						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	CCCAAAGAAAATCAAAACGAA	0.363													15	17					0	0	0	0	G	60168743	A	G	60168743	3	3	197	1	0	0	0	0	1	0	0	0	14501	101	4	5	677	5	SLC16A7	12	60168743	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	6484086	60168743	73683152	356	35077											
RASSF3	283349	broad.mit.edu	37	chr12	65088583	65088583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaactacagaatttcttgcGcatcttggacaaggaagaag	15	9	10	7	1	2	3	0	0	2	3	2	5	2	5	0	2	3	1	0	2	6	4	rs147804503		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:65088583G>T	ENST00000542104.1	+	5	728	c.608G>T	c.(607-609)cGc>cTc	p.R203L	RASSF3_ENST00000336061.2_Missense_Mutation_p.R203L	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	203	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		AATTTCTTGCGCATCTTGGAC	0.473													39	56					2.26627e-22	3.37232e-22	1	0	T	65088583	G	T	65088583	3	4	197	1	0	0	0	0	1	0	0	0	13169	1087	38	3	626	3	RASSF3	12	65088583	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	4919840	65088583	68763312	357	35078											
BEST3	144453	broad.mit.edu	37	chr12	70087573	70087573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtccttctaagcaggcgcCcgtgctcgtcgcttccgtga	4	10	12	15	6	1	1	0	1	1	0	5	1	3	1	3	1	2	3	3	1	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:70087573C>A	ENST00000330891.5	-	4	588	c.362G>T	c.(361-363)gGg>gTg	p.G121V	BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000553096.1_Missense_Mutation_p.G15V|BEST3_ENST00000551160.1_Missense_Mutation_p.G15V|BEST3_ENST00000266661.4_Missense_Mutation_p.G15V|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000393365.1_Missense_Mutation_p.G15V|BEST3_ENST00000331471.4_Missense_Mutation_p.G121V	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	121						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGCAGGCGCCCGTGCTCGTC	0.532													15	30					1.52009e-12	1.98863e-12	1	0	A	70087573	C	A	70087573	3	1	197	1	0	0	0	0	1	0	0	0	1410	623	22	4	1672	4	BEST3	12	70087573	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4998990	70087573	63764322	358	35079											
TRHDE	29953	broad.mit.edu	37	chr12	72936127	72936127	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccattcagttttccagagGggtttgcaagtaagtaaaat	12	12	11	6	0	1	1	1	0	0	1	2	1	2	1	2	3	1	5	2	3	4	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:72936127G>A	ENST00000261180.4	+	7	1740	c.1644G>A	c.(1642-1644)agG>agA	p.R548R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	548					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTTCCAGAGGGGTTTGCAAG	0.308													16	20					0	0	0	0	A	72936127	G	A	72936127	2	1	197	1	0	0	0	0	0	0	0	1	16574	1223	43	4		4	TRHDE	12	72936127	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2848554	72936127	60915768	359	35080											
NAV3	89795	broad.mit.edu	37	chr12	78400833	78400833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctccaaaattgcaagcttGatccctaagggcagcaagac	14	7	8	12	0	0	2	0	1	0	1	2	2	2	2	3	1	3	4	3	1	5	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:78400833G>A	ENST00000397909.2	+	8	1688	c.1515G>A	c.(1513-1515)ttG>ttA	p.L505L	NAV3_ENST00000228327.6_Silent_p.L505L|NAV3_ENST00000266692.7_Silent_p.L505L|NAV3_ENST00000536525.2_Silent_p.L505L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	505						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTGCAAGCTTGATCCCTAAGG	0.428										HNSCC(70;0.22)			35	29					0	0	0	0	A	78400833	G	A	78400833	2	1	197	1	0	0	0	0	0	0	0	1	10255	1281	45	2		2	NAV3	12	78400833	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	5464706	78400833	55451062	360	35081											
NAV3	89795	broad.mit.edu	37	chr12	78553062	78553062	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaactatgacagcggaacAaaaggtatgttcagaaattg	16	10	9	6	1	2	2	1	1	1	1	2	3	2	3	0	2	3	2	0	2	7	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:78553062A>C	ENST00000397909.2	+	23	5038	c.4865A>C	c.(4864-4866)cAa>cCa	p.Q1622P	NAV3_ENST00000228327.6_Missense_Mutation_p.Q1622P|NAV3_ENST00000266692.7_Missense_Mutation_p.Q1445P|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1622P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1622						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAGCGGAACAAAAGGTATGT	0.388										HNSCC(70;0.22)			13	42					0	0	0	0	C	78553062	A	C	78553062	3	2	197	1	0	0	0	0	1	0	0	0	10255	130	5	5	4955	5	NAV3	12	78553062	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	152229	78553062	55298833	361	35082											
PPFIA2	8499	broad.mit.edu	37	chr12	82147793	82147793	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctctggagtgagtctcGgtcatagatgacatcctgaa	9	12	11	9	1	3	4	1	3	2	1	6	5	4	5	1	2	0	0	1	2	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:82147793G>T	ENST00000550584.2	-	2	503	c.208C>A	c.(208-210)Cga>Aga	p.R70R	PPFIA2_ENST00000549325.1_Silent_p.R70R|PPFIA2_ENST00000333447.7_Silent_p.R70R|PPFIA2_ENST00000548586.1_Silent_p.R70R|PPFIA2_ENST00000549396.1_Silent_p.R70R|PPFIA2_ENST00000552948.1_Silent_p.R70R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	329										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGTGAGTCTCGGTCATAGATG	0.468													6	20					2.0095e-06	2.26751e-06	1	0	T	82147793	G	T	82147793	2	4	197	1	0	0	0	0	0	0	0	1	12381	1124	39	3		3	PPFIA2	12	82147793	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	3594731	82147793	51704102	362	35083											
ALX1	8092	broad.mit.edu	37	chr12	85677506	85677506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taaatgtgatagcaatgtatCcagcagtaagaaacggaggc	16	8	11	6	1	0	2	0	1	0	1	1	3	1	3	1	2	3	4	1	2	7	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:85677506C>T	ENST00000316824.3	+	2	538	c.383C>T	c.(382-384)tCc>tTc	p.S128F		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	128					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.S128C(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		AGCAATGTATCCAGCAGTAAG	0.478													41	38					0	0	0	0	T	85677506	C	T	85677506	3	4	197	1	0	0	0	0	1	0	0	0	556	855	30	2	389	2	ALX1	12	85677506	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3529713	85677506	48174389	363	35084											
C12orf50	160419	broad.mit.edu	37	chr12	88381702	88381702	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcgttgtaggtactagtcGggtagttagggaatgctttg	8	14	15	4	2	0	0	0	0	0	0	1	1	0	1	0	3	3	6	0	3	6	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:88381702G>A	ENST00000298699.2	-	9	922	c.742C>T	c.(742-744)Cga>Tga	p.R248*	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	248										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGTACTAGTCGGGTAGTTAGG	0.343													23	31					0	0	0	0	A	88381702	G	A	88381702	4	1	197	1	0	0	0	0	0	1	0	0	1707	1124	39	1	522	1	C12orf50	12	88381702	Nonsense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2704196	88381702	45470193	364	35085											
STAB2	55576	broad.mit.edu	37	chr12	104152959	104152959	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctcgccaatgtcagcatgTttttctacaatgaccttgtc	9	14	6	12	1	2	1	1	1	1	0	4	1	2	1	3	0	2	2	3	0	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:104152959T>C	ENST00000388887.2	+	65	7360	c.7156T>C	c.(7156-7158)Ttt>Ctt	p.F2386L	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2386	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTCAGCATGTTTTTCTACAA	0.507													58	51					0	0	0	0	C	104152959	T	C	104152959	3	2	197	1	0	0	0	0	1	0	0	0	15328	1725	60	5	7414	5	STAB2	12	104152959	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	15771257	104152959	29698936	365	35086											
ACACB	32	broad.mit.edu	37	chr12	109684049	109684049	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaaggacgggatgtgatCgtcatcggcaatgacatcac	11	7	13	10	4	2	2	2	2	0	0	4	5	2	5	1	4	0	1	1	4	2	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:109684049C>A	ENST00000338432.7	+	39	5486	c.5367C>A	c.(5365-5367)atC>atA	p.I1789I	ACACB_ENST00000543201.1_Silent_p.I455I|ACACB_ENST00000377854.5_Silent_p.I1719I|ACACB_ENST00000377848.3_Silent_p.I1789I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1789					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGGATGTGATCGTCATCGGCA	0.552													39	33					1.57019e-19	2.25564e-19	1	0	A	109684049	C	A	109684049	2	1	197	1	0	0	0	0	0	0	0	1	107	874	31	3		3	ACACB	12	109684049	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	5531090	109684049	24167846	366	35087											
ATXN2	6311	broad.mit.edu	37	chr12	111923529	111923529	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacttacttgcacgcctggGctcactgggactggatacat	8	11	11	11	1	1	1	1	1	0	0	1	3	1	3	1	3	3	2	1	3	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:111923529G>A	ENST00000377617.3	-	17	3086	c.2925C>T	c.(2923-2925)agC>agT	p.S975S	ATXN2_ENST00000389153.4_Silent_p.S710S|ATXN2_ENST00000550104.1_Silent_p.S975S|ATXN2_ENST00000535949.1_Silent_p.S686S|ATXN2_ENST00000542287.2_Silent_p.S710S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	975	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GCACGCCTGGGCTCACTGGGA	0.453													16	56					0	0	0	0	A	111923529	G	A	111923529	2	1	197	1	0	0	0	0	0	0	0	1	1215	1194	42	4		4	ATXN2	12	111923529	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2239480	111923529	21928366	367	35088											
NOS1	4842	broad.mit.edu	37	chr12	117685212	117685212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccacagagctcatcccCttccctcatcttcaggatcc	7	10	5	19	0	4	1	3	0	1	1	7	2	7	2	5	1	2	1	5	1	0	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:117685212C>T	ENST00000317775.6	-	18	3449	c.2764G>A	c.(2764-2766)Ggg>Agg	p.G922R	NOS1_ENST00000338101.4_Missense_Mutation_p.G956R|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	922	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGCTCATCCCCTTCCCTCATC	0.552													54	61					0	0	0	0	T	117685212	C	T	117685212	3	4	197	1	0	0	0	0	1	0	0	0	10611	681	24	4	1588	4	NOS1	12	117685212	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	5761683	117685212	16166683	368	35089											
CIT	11113	broad.mit.edu	37	chr12	120173008	120173008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcgttccgtgatctccCggcggagatggtccacttca	5	12	10	14	4	3	2	1	1	2	1	8	3	5	2	3	3	0	1	3	3	0	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:120173008C>A	ENST00000392521.2	-	25	3168	c.3113G>T	c.(3112-3114)cGg>cTg	p.R1038L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R996L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	996					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CGTGATCTCCCGGCGGAGATG	0.498													31	88					4.3181e-19	6.14404e-19	1	0	A	120173008	C	A	120173008	3	1	197	1	0	0	0	0	1	0	0	0	3468	652	23	3	3192	3	CIT	12	120173008	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2487796	120173008	13678887	369	35090											
PXN	5829	broad.mit.edu	37	chr12	120652757	120652757	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctggcagtgggtgcaGacgaagtgctcggggtgcca	6	8	16	11	2	0	1	0	0	0	1	3	2	2	1	3	4	3	3	3	4	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:120652757G>T	ENST00000397506.3	-	6	1638	c.585C>A	c.(583-585)gtC>gtA	p.V195V	PXN_ENST00000267257.7_Silent_p.V397V|PXN_ENST00000458477.2_Silent_p.V216V|PXN_ENST00000424649.2_Silent_p.V349V|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000228307.7_Silent_p.V383V|PXN_ENST00000536957.1_Silent_p.V381V			P49023	PAXI_HUMAN	paxillin	383					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGTGGGTGCAGACGAAGTGCT	0.632													4	23					0.00024832	0.000265752	1	0	T	120652757	G	T	120652757	2	4	197	1	0	0	0	0	0	0	0	1	12934	929	33	2		2	PXN	12	120652757	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	479749	120652757	13199138	370	35091											
PITPNM2	57605	broad.mit.edu	37	chr12	123485364	123485364	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacactggaggccaccctGaactcaggggcaccctggcg	8	5	12	16	1	1	1	1	1	0	0	2	2	2	2	4	5	1	1	4	5	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:123485364G>A	ENST00000280562.5	-	9	1390	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Silent_p.F395F|PITPNM2_ENST00000392428.1_Silent_p.F116F|PITPNM2_ENST00000320201.4_Silent_p.F395F|PITPNM2_ENST00000546049.1_Silent_p.F433F			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	395					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGGCCACCCTGAACTCAGGGG	0.652													4	26					0	0	0	0	A	123485364	G	A	123485364	2	1	197	1	0	0	0	0	0	0	0	1	12023	1281	45	2		2	PITPNM2	12	123485364	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2832607	123485364	10366531	371	35092											
GTF2H3	2967	broad.mit.edu	37	chr12	124144433	124144433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgcttgcttctgtcatcGaaatctcattgaaattggtt	8	16	9	8	1	3	1	2	1	2	0	5	2	3	1	0	2	2	4	0	2	2	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:124144433G>A	ENST00000543341.2	+	11	807	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	GTF2H3_ENST00000228955.7_Missense_Mutation_p.R218Q	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	259					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		TTCTGTCATCGAAATCTCATT	0.413								Nucleotide excision repair (NER)					16	68					0	0	0	0	A	124144433	G	A	124144433	3	1	197	1	0	0	0	0	1	0	0	0	6914	1058	37	1	818	1	GTF2H3	12	124144433	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	659069	124144433	9707462	372	35093											
TCTN2	79867	broad.mit.edu	37	chr12	124191294	124191294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctcagtgaactggcaGtaccagtgtgggcttacctg	7	12	11	11	0	2	1	1	1	1	0	3	1	2	1	3	2	3	3	3	2	3	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:124191294G>T	ENST00000303372.5	+	16	1919	c.1791G>T	c.(1789-1791)caG>caT	p.Q597H	TCTN2_ENST00000426174.2_Missense_Mutation_p.Q596H	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	597					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGAACTGGCAGTACCAGTGTG	0.502													39	61					2.26627e-22	3.37232e-22	1	0	T	124191294	G	T	124191294	3	4	197	1	0	0	0	0	1	0	0	0	15817	1020	36	4	1853	4	TCTN2	12	124191294	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	46861	124191294	9660601	373	35094											
RIMBP2	23504	broad.mit.edu	37	chr12	130926460	130926460	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccagcgggagctgccaCggcatctggtggggtttggc	4	9	17	11	2	1	0	0	0	1	0	2	1	2	1	2	6	4	4	2	6	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:130926460C>A	ENST00000261655.4	-	8	1549	c.1386G>T	c.(1384-1386)ccG>ccT	p.P462P	RIMBP2_ENST00000536002.1_Silent_p.P370P|RIMBP2_ENST00000535703.1_Silent_p.P370P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	462	Fibronectin type-III 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGAGCTGCCACGGCATCTGGT	0.587													22	32					2.39556e-15	3.25361e-15	1	0	A	130926460	C	A	130926460	2	1	197	1	0	0	0	0	0	0	0	1	13446	523	19	3		3	RIMBP2	12	130926460	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	6735166	130926460	2925435	374	35095											
EP400	57634	broad.mit.edu	37	chr12	132510276	132510276	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaccgtgtctcaggcGggcgctgtgcacggcgccct	5	7	15	14	5	1	1	1	0	1	1	2	1	1	1	2	3	2	3	2	3	0	0	rs79827647	by1000genomes	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:132510276G>T	ENST00000333577.4	+	26	5158	c.5049G>T	c.(5047-5049)gcG>gcT	p.A1683A	EP400_ENST00000389562.2_Silent_p.A1646A|EP400_ENST00000389561.2_Silent_p.A1647A|EP400_ENST00000332482.4_Silent_p.A1610A|EP400_ENST00000330386.6_Silent_p.A1566A			Q96L91	EP400_HUMAN	E1A binding protein p400	1683					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGTCTCAGGCGGGCGCTGTGC	0.692													5	24					1.23904e-05	1.36112e-05	1	0	T	132510276	G	T	132510276	2	4	197	1	0	0	0	0	0	0	0	1	5187	1103	39	3		3	EP400	12	132510276	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1583816	132510276	1341619	375	35096											
CHFR	55743	broad.mit.edu	37	chr12	133433063	133433063	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatgatttacctaatgtctGaggactcactgtcaacgtct	10	13	8	10	1	4	2	2	2	2	0	4	3	4	3	1	1	2	1	1	1	3	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:133433063G>C	ENST00000266880.7	-	11	1319	c.1256C>G	c.(1255-1257)tCa>tGa	p.S419*	CHFR_ENST00000450056.2_Nonsense_Mutation_p.S407*|CHFR_ENST00000315585.7_Nonsense_Mutation_p.S378*|CHFR_ENST00000443047.2_Nonsense_Mutation_p.S327*|CHFR_ENST00000432561.2_Nonsense_Mutation_p.S419*|CHFR_ENST00000537522.1_Nonsense_Mutation_p.S41*|CHFR_ENST00000541837.2_5'UTR			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	419					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CCTAATGTCTGAGGACTCACT	0.537													31	108					0	0	0	0	C	133433063	G	C	133433063	4	2	197	1	0	0	0	0	0	1	0	0	3366	1294	45	2	774	2	CHFR	12	133433063	Nonsense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	922787	133433063	418832	376	35097											
FREM2	341640	broad.mit.edu	37	chr13	39262131	39262131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgagacagaggagtgccGcgtgggcatcctgtccggct	6	6	16	13	4	0	2	0	0	0	2	2	4	2	3	4	3	1	2	4	3	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:39262131G>T	ENST00000280481.7	+	1	866	c.650G>T	c.(649-651)cGc>cTc	p.R217L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	217					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGGAGTGCCGCGTGGGCATC	0.682													34	11					9.17885e-22	1.35239e-21	1	0	T	39262131	G	T	39262131	3	4	197	1	0	0	0	0	1	0	0	0	6093	1087	38	3	652	3	FREM2	13	39262131	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08		39262131	75907747	377	35098											
RB1	5925	broad.mit.edu	37	chr13	48941688	48941688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaaataaagatctagatgCaagattatttttggatcatg	17	14	7	3	0	2	3	1	0	1	3	2	4	2	4	0	1	1	1	0	1	8	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:48941688C>T	ENST00000267163.4	+	10	1136	c.998C>T	c.(997-999)gCa>gTa	p.A333V		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	333					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATCTAGATGCAAGATTATTT	0.284		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			48	29					0	0	0	0	T	48941688	C	T	48941688	3	4	197	1	0	0	0	0	1	0	0	0	13180	710	25	4	1036	4	RB1	13	48941688	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	9679557	48941688	66228190	378	35099											
PCDH17	27253	broad.mit.edu	37	chr13	58298958	58298958	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttttgtacatttggaaaaGacaagcgagagcacactatt	14	12	8	7	1	0	2	0	0	0	2	0	4	0	3	0	1	3	2	0	1	5	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:58298958G>C	ENST00000377918.3	+	4	3036	c.3010G>C	c.(3010-3012)Gac>Cac	p.D1004H		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1004					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATTTGGAAAAGACAAGCGAGA	0.433													55	23					0	0	0	0	C	58298958	G	C	58298958	3	2	197	1	0	0	0	0	1	0	0	0	11583	942	33	2	3024	2	PCDH17	13	58298958	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	9357270	58298958	56870920	379	35100											
PCDH20	64881	broad.mit.edu	37	chr13	61985813	61985813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtctgcagcaatgcctcttCcaaagtaatgttgccagttt	9	14	8	10	0	2	0	0	0	2	0	3	0	3	0	3	0	4	5	3	0	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:61985813C>T	ENST00000409186.1	-	5	4524	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E807K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	780	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AATGCCTCTTCCAAAGTAATG	0.488													81	30					0	0	0	0	T	61985813	C	T	61985813	3	4	197	1	0	0	0	0	1	0	0	0	11586	864	30	2	440	2	PCDH20	13	61985813	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3686855	61985813	53184065	380	35101											
FARP1	10160	broad.mit.edu	37	chr13	99092244	99092244	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaagacgagtggggggtGccccactgcctgaccctccg	7	5	15	14	3	0	2	0	1	0	1	1	4	1	2	5	3	3	0	5	3	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:99092244G>T	ENST00000376586.2	+	23	2892	c.2556G>T	c.(2554-2556)gtG>gtT	p.V852V	FARP1_ENST00000595437.1_Silent_p.V852V|FARP1_ENST00000319562.6_Silent_p.V821V			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	821	PH 1.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGTGGGGGGTGCCCCACTGCC	0.617													157	65					1.46131e-73	2.4044e-73	1	0	T	99092244	G	T	99092244	2	4	197	1	0	0	0	0	0	0	0	1	5721	1306	46	4		4	FARP1	13	99092244	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	37106431	99092244	16077634	381	35102											
DOCK9	23348	broad.mit.edu	37	chr13	99481561	99481561	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctggcagggctactacCtctgagagatcgccattttt	7	11	12	11	2	1	2	0	1	1	1	2	3	1	2	2	3	2	3	2	3	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:99481561C>G	ENST00000376460.1	-	43	4976	c.4896_splice	c.e43+1	p.E1632_splice	DOCK9_ENST00000339416.2_Splice_Site_p.E1633_splice|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1633	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGCTACTACCTCTGAGAGAT	0.488													4	2					0	0	0	0	G	99481561	C	G	99481561	5	3	197	1	0	0	0	0	0	0	1	0	4730	695	24	4	1362	4	DOCK9	13	99481561	Splice_Site	SNP	C	TCGA-CR-7370-01A-11D-2129-08	389317	99481561	15688317	382	35103											
MYO16	23026	broad.mit.edu	37	chr13	109793638	109793638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaggcctctcagcagccCcctggacgagctcgccagcc	6	5	10	20	2	1	0	1	0	1	0	4	2	2	1	6	2	4	2	6	2	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:109793638C>A	ENST00000356711.2	+	32	5138	c.5012C>A	c.(5011-5013)cCc>cAc	p.P1671H	MYO16_ENST00000357550.2_Missense_Mutation_p.P1671H	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1671	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTCAGCAGCCCCCTGGACGAG	0.672													6	4					8.12818e-05	8.73634e-05	1	0	A	109793638	C	A	109793638	3	1	197	1	0	0	0	0	1	0	0	0	10134	623	22	4	5134	4	MYO16	13	109793638	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	10312077	109793638	5376240	383	35104											
MCF2L	23263	broad.mit.edu	37	chr13	113729415	113729415	+	Frame_Shift_Del	DEL	G	G	-																															cccaaagtgccaggagctccGgcacctctgtgaccagttct																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:113729415delG	ENST00000397030.1	+	11	1356	c.1319delG	c.(1318-1320)cgfs	p.R440fs	MCF2L_ENST00000375597.4_Frame_Shift_Del_p.R405fs|MCF2L_ENST00000421756.1_Frame_Shift_Del_p.R411fs|MCF2L_ENST00000375601.3_Frame_Shift_Del_p.R411fs|MCF2L_ENST00000535094.2_Frame_Shift_Del_p.R407fs|MCF2L_ENST00000375604.2_Frame_Shift_Del_p.R464fs|MCF2L_ENST00000442652.2_Frame_Shift_Del_p.R437fs|MCF2L_ENST00000434480.2_Frame_Shift_Del_p.R413fs|MCF2L_ENST00000423482.2_Frame_Shift_Del_p.R405fs|MCF2L_ENST00000375608.3_Frame_Shift_Del_p.R437fs			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	437					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGGAGCTCCGGCACCTCTGT	0.667													45	26	---	---	---	---					-	113729415	G	-	113729415	7	5	197	1	0	1	0	1	0	0	0	0	9448	1116	39	0	1528	0	MCF2L	13	113729415	Frame_Shift_Del	DEL	G	TCGA-CR-7370-01A-11D-2129-08	3935777	113729415	1440463	384	35105											
REM2	161253	broad.mit.edu	37	chr14	23354038	23354038	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaggctgtagatgaacttGactggccacctcaggcctca	9	8	10	14	0	2	3	2	2	0	1	2	3	2	3	4	3	1	2	4	3	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:23354038G>C	ENST00000267396.4	+	2	382	c.259G>C	c.(259-261)Gac>Cac	p.D87H	REM2_ENST00000536884.1_Missense_Mutation_p.D87H	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	87					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGATGAACTTGACTGGCCACC	0.622													7	81					0	0	0	0	C	23354038	G	C	23354038	3	2	197	1	0	0	0	0	1	0	0	0	13305	1290	45	2	265	2	REM2	14	23354038	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08		23354038	83995502	385	35106											
REM2	161253	broad.mit.edu	37	chr14	23355356	23355356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaccctacttcggctccggGctgggaggccgcaccacgac	7	5	13	16	4	0	1	0	0	0	1	2	3	1	2	4	4	1	3	4	4	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:23355356G>A	ENST00000267396.4	+	4	766	c.643G>A	c.(643-645)Gct>Act	p.A215T	REM2_ENST00000536884.1_Missense_Mutation_p.G190D	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	215					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TCGGCTCCGGGCTGGGAGGCC	0.597													7	61					0	0	0	0	A	23355356	G	A	23355356	3	1	197	1	0	0	0	0	1	0	0	0	13305	1203	42	4	657	4	REM2	14	23355356	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1318	23355356	83994184	386	35107											
EFS	10278	broad.mit.edu	37	chr14	23826490	23826491	+	Frame_Shift_Del	DEL	TC	TC	-																															gcagggcctgccctgccagtTctgttacacactgcaccatc																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:23826490_23826491delTC	ENST00000216733.3	-	6	2237_2238	c.1630_1631delGA	c.(1630-1632)afs	p.E544fs	EFS_ENST00000429593.2_Frame_Shift_Del_p.E375fs|EFS_ENST00000351354.3_Frame_Shift_Del_p.E451fs	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	544					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CCCTGCCAGTTCTGTTACACAC	0.619													26	127	---	---	---	---					-	23826491	TC	-	23826490	7	5	197	1	0	1	0	1	0	0	0	0	4995	1783	62	0	58	0	EFS	14	23826490	Frame_Shift_Del	DEL	TC	TCGA-CR-7370-01A-11D-2129-08	471134	23826490	83523050	387	35108											
CTSG	1511	broad.mit.edu	37	chr14	25043923	25043923	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatggtccgctgattataTtgagggtggcggatggctct	6	13	16	6	2	1	2	0	2	1	0	2	4	2	4	1	6	0	2	1	6	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:25043923T>C	ENST00000216336.2	-	3	333	c.297A>G	c.(295-297)caA>caG	p.Q99Q		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	99	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GCTGATTATATTGAGGGTGGC	0.537													104	28					0	0	0	0	C	25043923	T	C	25043923	2	2	197	1	0	0	0	0	0	0	0	1	4067	1490	52	5		5	CTSG	14	25043923	Silent	SNP	T	TCGA-CR-7370-01A-11D-2129-08	1217433	25043923	82305617	388	35109											
STRN3	29966	broad.mit.edu	37	chr14	31405784	31405784	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcttcatcactgtcatCggcattttctaagaaattga	11	15	5	10	1	6	2	4	1	2	1	7	2	6	2	0	1	0	1	0	1	2	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:31405784C>A	ENST00000355683.5	-	6	978	c.763G>T	c.(763-765)Gat>Tat	p.D255Y	STRN3_ENST00000357479.5_Missense_Mutation_p.D255Y	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	255					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TCACTGTCATCGGCATTTTCT	0.363													58	17					2.37032e-18	3.32201e-18	1	0	A	31405784	C	A	31405784	3	1	197	1	0	0	0	0	1	0	0	0	15420	884	31	3	1682	3	STRN3	14	31405784	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	6361861	31405784	75943756	389	35110											
STRN3	29966	broad.mit.edu	37	chr14	31405799	31405799	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatcggcattttctaagaAattgaacgtctcaagaacat	14	12	7	8	2	3	3	2	1	2	2	5	3	3	3	0	1	2	1	0	1	5	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:31405799A>C	ENST00000355683.5	-	6	963	c.748T>G	c.(748-750)Ttc>Gtc	p.F250V	STRN3_ENST00000357479.5_Missense_Mutation_p.F250V	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	250					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTTTCTAAGAAATTGAACGTC	0.383													51	17					0	0	0	0	C	31405799	A	C	31405799	3	2	197	1	0	0	0	0	1	0	0	0	15420	14	1	5	1697	5	STRN3	14	31405799	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	15	31405799	75943741	390	35111											
FBXO34	55030	broad.mit.edu	37	chr14	55818402	55818402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattgcccacagatgctGttgattgtatgagcagagag	11	11	12	7	0	0	5	0	3	0	2	0	6	0	5	1	0	3	4	1	0	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:55818402G>A	ENST00000313833.4	+	2	1539	c.1294G>A	c.(1294-1296)Gtt>Att	p.V432I	FBXO34_ENST00000440021.1_Missense_Mutation_p.V432I	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	432			V -> A (in dbSNP:rs35070799).							breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CACAGATGCTGTTGATTGTAT	0.418													16	282					0	0	0	0	A	55818402	G	A	55818402	3	1	197	1	0	0	0	0	1	0	0	0	5789	1377	48	4	1296	4	FBXO34	14	55818402	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	24412603	55818402	51531138	391	35112											
DACT1	51339	broad.mit.edu	37	chr14	59112862	59112862	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagttgtacagcccctgaaAaagatgtcacagaaaaacag	19	6	8	8	0	1	3	1	1	0	2	1	3	1	3	2	0	3	2	2	0	6	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:59112862A>G	ENST00000395153.3	+	4	1557	c.1410A>G	c.(1408-1410)aaA>aaG	p.K470K	DACT1_ENST00000395151.3_Silent_p.K226K|DACT1_ENST00000556859.1_Silent_p.K226K|DACT1_ENST00000335867.4_Silent_p.K507K|DACT1_ENST00000541264.2_Silent_p.K226K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	507					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGCCCCTGAAAAAGATGTCAC	0.592													159	29					0	0	0	0	G	59112862	A	G	59112862	2	3	197	1	0	0	0	0	0	0	0	1	4255	11	1	5		5	DACT1	14	59112862	Silent	SNP	A	TCGA-CR-7370-01A-11D-2129-08	3294460	59112862	48236678	392	35113											
PPM1A	5494	broad.mit.edu	37	chr14	60756619	60756619	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctcccaccagggggtGaattggcaagcaagtaagtt	11	7	12	11	0	0	1	0	1	0	0	1	1	1	1	4	3	2	4	4	3	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:60756619G>T	ENST00000395076.4	+	4	1478	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	PPM1A_ENST00000325642.3_Nonsense_Mutation_p.E423*|PPM1A_ENST00000529574.1_Nonsense_Mutation_p.E350*	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	350					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		ACCAGGGGGTGAATTGGCAAG	0.438													28	37					8.58068e-18	1.19363e-17	1	0	T	60756619	G	T	60756619	4	4	197	1	0	0	0	0	0	1	0	0	12411	1291	45	2	1304	2	PPM1A	14	60756619	Nonsense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1643757	60756619	46592921	393	35114											
SPTB	6710	broad.mit.edu	37	chr14	65268548	65268548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttggtgacattaacatgagGgtagctgcatccaagagaaa	14	9	12	6	0	0	3	0	2	0	1	1	4	1	3	1	2	3	4	1	2	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:65268548G>A	ENST00000389722.3	-	5	624	c.571C>T	c.(571-573)Cct>Tct	p.P191S	SPTB_ENST00000389720.3_Missense_Mutation_p.P191S|SPTB_ENST00000389721.5_Missense_Mutation_p.P191S|SPTB_ENST00000542895.1_Missense_Mutation_p.P191S|SPTB_ENST00000556626.1_Missense_Mutation_p.P191S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	191	Actin-binding.|CH 2.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTAACATGAGGGTAGCTGCAT	0.463											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	129	17					0	0	0	0	A	65268548	G	A	65268548	3	1	197	1	0	0	0	0	1	0	0	0	15208	1232	43	4	6608	4	SPTB	14	65268548	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	4511929	65268548	42080992	394	35115											
ISM2	145501	broad.mit.edu	37	chr14	77948965	77948965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggctcagccaacaggtCtatcgacacctcggcctggg	7	7	13	14	2	2	0	1	0	1	0	4	1	2	0	3	4	2	2	3	4	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:77948965C>A	ENST00000393684.3	-	5	800	c.409G>T	c.(409-411)Gac>Tac	p.D137Y	ISM2_ENST00000429906.1_Missense_Mutation_p.D144Y|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000412904.1_Missense_Mutation_p.D144Y|ISM2_ENST00000342219.4_Missense_Mutation_p.D225Y			Q6H9L7	ISM2_HUMAN	isthmin 2	225						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCCAACAGGTCTATCGACACC	0.612													107	151					1.07149e-41	1.72501e-41	1	0	A	77948965	C	A	77948965	3	1	197	1	0	0	0	0	1	0	0	0	7914	913	32	2	1058	2	ISM2	14	77948965	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	12680417	77948965	29400575	395	35116											
SEL1L	6400	broad.mit.edu	37	chr14	81953772	81953772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgcatcacgccggtgcCactggcatgcatctgagcta	8	9	11	13	3	2	2	1	2	1	0	3	2	2	2	2	2	3	4	2	2	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:81953772C>T	ENST00000336735.4	-	16	1710	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	532	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ACGCCGGTGCCACTGGCATGC	0.478													60	17					0	0	0	0	T	81953772	C	T	81953772	3	4	197	1	0	0	0	0	1	0	0	0	14097	594	21	4	814	4	SEL1L	14	81953772	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4004807	81953772	25395768	396	35117											
FLRT2	23768	broad.mit.edu	37	chr14	86088031	86088031	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagcttgacctcagtgcCtcttgggatcccggagggcg	6	8	15	12	3	2	1	1	1	1	0	3	4	3	3	3	3	2	1	3	3	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:86088031C>G	ENST00000330753.4	+	2	940	c.173C>G	c.(172-174)cCt>cGt	p.P58R	FLRT2_ENST00000554746.1_Missense_Mutation_p.P58R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	58	LRRNT.				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)		ACCTCAGTGCCTCTTGGGATC	0.522													157	48					0	0	0	0	G	86088031	C	G	86088031	3	3	197	1	0	0	0	0	1	0	0	0	5984	681	24	4	175	4	FLRT2	14	86088031	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4134259	86088031	21261509	397	35118											
CYP46A1	10858	broad.mit.edu	37	chr14	100157458	100157458	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttttggaaaaaggatGaggttggtggccgtgtgctc	7	12	15	7	1	0	1	0	1	0	0	1	3	0	3	2	5	2	3	2	5	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:100157458G>T	ENST00000261835.3	+	2	264	c.160G>T	c.(160-162)Gag>Tag	p.E54*	CYP46A1_ENST00000423126.2_5'UTR	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	54					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GAAAAAGGATGAGGTTGGTGG	0.502													76	115					3.64303e-30	5.6813e-30	1	0	T	100157458	G	T	100157458	4	4	197	1	0	0	0	0	0	1	0	0	4214	1291	45	2	166	2	CYP46A1	14	100157458	Nonsense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	14069427	100157458	7192082	398	35119											
DEGS2	123099	broad.mit.edu	37	chr14	100615483	100615483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcaggcccaggcccaggaagGagctggccagcaggtagacc	10	2	16	13	0	0	1	0	0	0	1	0	3	0	3	4	6	2	4	4	6	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:100615483G>C	ENST00000305631.5	-	2	1222	c.647C>G	c.(646-648)tCc>tGc	p.S216C	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	216					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCCCAGGAAGGAGCTGGCCAG	0.647													83	17					0	0	0	0	C	100615483	G	C	100615483	3	2	197	1	0	0	0	0	1	0	0	0	4460	1174	41	2	332	2	DEGS2	14	100615483	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	458025	100615483	6734057	399	35120											
AHNAK2	113146	broad.mit.edu	37	chr14	105419983	105419983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttctgtggctttttctCtgcctgtctttgtgtgcttg	0	22	10	9	0	4	0	0	0	4	0	5	0	4	0	1	1	2	2	1	1	0	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:105419983C>A	ENST00000333244.5	-	7	1924	c.1805G>T	c.(1804-1806)aGa>aTa	p.R602I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	602						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTTTTTCTCTGCCTGTCTT	0.502													49	546					6.03219e-31	9.44664e-31	1	0	A	105419983	C	A	105419983	3	1	197	1	0	0	0	0	1	0	0	0	415	913	32	2	15586	2	AHNAK2	14	105419983	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4804500	105419983	1929557	400	35121											
MKRN3	7681	broad.mit.edu	37	chr15	23811411	23811411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtggcggaagccccccCggctgcatcctccctttcct	5	8	11	17	2	0	0	0	0	0	0	3	2	3	2	6	4	2	2	6	4	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:23811411C>A	ENST00000314520.3	+	1	958	c.482C>A	c.(481-483)cCg>cAg	p.P161Q	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	161						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GAAGCCCCCCCGGCTGCATCC	0.642													17	24					1.15088e-07	1.31857e-07	1	0	A	23811411	C	A	23811411	3	1	197	1	0	0	0	0	1	0	0	0	9677	652	23	3	484	3	MKRN3	15	23811411	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08		23811411	78719981	401	35122											
MKRN3	7681	broad.mit.edu	37	chr15	23811593	23811593	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggttgcatctgcccccGaggctcctctacagagctca	6	9	11	15	1	3	1	1	0	2	1	4	2	4	1	3	2	4	5	3	2	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:23811593G>T	ENST00000314520.3	+	1	1140	c.664G>T	c.(664-666)Gag>Tag	p.E222*	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	222						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATCTGCCCCCGAGGCTCCTCT	0.597													10	24					0.000978159	0.00103058	1	0	T	23811593	G	T	23811593	4	4	197	1	0	0	0	0	0	1	0	0	9677	1059	37	3	666	3	MKRN3	15	23811593	Nonsense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	182	23811593	78719799	402	35123											
GABRA5	2558	broad.mit.edu	37	chr15	27128609	27128609	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctggaccccagacacgttCttccacaacgggaagaagtc	12	7	9	13	2	2	2	0	0	2	2	4	4	3	4	3	2	1	1	3	2	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:27128609C>T	ENST00000335625.5	+	6	1290	c.402C>T	c.(400-402)ttC>ttT	p.F134F	GABRA5_ENST00000400081.3_Silent_p.F134F|GABRA5_ENST00000355395.5_Silent_p.F134F|GABRA5_ENST00000557449.1_Intron|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	134					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGACACGTTCTTCCACAACG	0.577													6	47					0	0	0	0	T	27128609	C	T	27128609	2	4	197	1	0	0	0	0	0	0	0	1	6212	912	32	2		2	GABRA5	15	27128609	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3317016	27128609	75402783	403	35124											
SLC12A6	9990	broad.mit.edu	37	chr15	34543234	34543234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcgatgatctctcccttgGgtaggtaattactccaaaga	10	14	8	9	1	1	2	0	1	1	1	5	3	3	2	2	2	1	2	2	2	4	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:34543234G>T	ENST00000354181.3	-	11	1850	c.1358C>A	c.(1357-1359)cCc>cAc	p.P453H	SLC12A6_ENST00000558589.1_Missense_Mutation_p.P444H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.P265H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.P402H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.P394H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.P453H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.P453H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.P394H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.P438H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.P265H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	453					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTCTCCCTTGGGTAGGTAATT	0.383													28	53					2.48696e-23	3.73794e-23	1	0	T	34543234	G	T	34543234	3	4	197	1	0	0	0	0	1	0	0	0	14475	1232	43	4	2158	4	SLC12A6	15	34543234	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	7414625	34543234	67988158	404	35125											
RASGRP1	10125	broad.mit.edu	37	chr15	38852064	38852064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagatcgtccaggctggCtcctttggctaaatgtccca	9	11	10	11	1	0	1	0	1	0	1	4	2	3	1	3	3	0	3	3	3	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:38852064C>T	ENST00000310803.5	-	2	355	c.178G>A	c.(178-180)Gcc>Acc	p.A60T	RASGRP1_ENST00000559830.1_Missense_Mutation_p.A60T|RASGRP1_ENST00000539159.1_Missense_Mutation_p.A12T|RASGRP1_ENST00000450598.2_Missense_Mutation_p.A60T|RASGRP1_ENST00000558164.1_Missense_Mutation_p.A60T|RASGRP1_ENST00000561180.1_Missense_Mutation_p.A111T	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	60	N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCCAGGCTGGCTCCTTTGGCT	0.502													11	34					0	0	0	0	T	38852064	C	T	38852064	3	4	197	1	0	0	0	0	1	0	0	0	13156	797	28	4	2279	4	RASGRP1	15	38852064	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4308830	38852064	63679328	405	35126											
MAPKBP1	23005	broad.mit.edu	37	chr15	42117604	42117604	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaactgttgcttcgagcCgtggaacggcgtatggaacg	9	9	14	9	5	1	1	1	0	0	1	2	4	1	3	1	3	5	3	1	3	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:42117604C>T	ENST00000457542.2	+	31	4783	c.4497C>T	c.(4495-4497)gcC>gcT	p.A1499A	RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000456763.2_Silent_p.A1505A|MAPKBP1_ENST00000260357.7_Silent_p.A1338A|MAPKBP1_ENST00000221214.6_Silent_p.A1382A|MAPKBP1_ENST00000514566.1_Silent_p.A1222A	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1505										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGCTTCGAGCCGTGGAACGGC	0.607													13	22					0	0	0	0	T	42117604	C	T	42117604	2	4	197	1	0	0	0	0	0	0	0	1	9361	639	23	1		1	MAPKBP1	15	42117604	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3265540	42117604	60413788	406	35127											
PLA2G4E	123745	broad.mit.edu	37	chr15	42278076	42278076	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtagttgaggtggatgatGaggtcggcttttcgctctgg	6	13	16	6	2	1	3	0	3	1	0	3	4	1	4	0	5	0	4	0	5	1	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:42278076G>A	ENST00000399518.3	-	18	2649	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.L692L	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	709	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GGTGGATGATGAGGTCGGCTT	0.617													6	10					0	0	0	0	A	42278076	G	A	42278076	2	1	197	1	0	0	0	0	0	0	0	1	12077	1277	45	2		2	PLA2G4E	15	42278076	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	160472	42278076	60253316	407	35128											
TTBK2	146057	broad.mit.edu	37	chr15	43122142	43122142	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaaggtccctaccggtttGatgtctcgatgcaagaatcc	11	10	10	10	2	1	2	0	1	1	1	4	4	3	2	3	2	2	2	3	2	5	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:43122142G>C	ENST00000267890.6	-	5	534	c.426C>G	c.(424-426)atC>atG	p.I142M	TTBK2_ENST00000567840.1_Missense_Mutation_p.I142M|TTBK2_ENST00000567274.1_Missense_Mutation_p.I142M	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	142	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTACCGGTTTGATGTCTCGAT	0.408													24	65					0	0	0	0	C	43122142	G	C	43122142	3	2	197	1	0	0	0	0	1	0	0	0	16773	1280	45	2	3352	2	TTBK2	15	43122142	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	844066	43122142	59409250	408	35129											
SHF	90525	broad.mit.edu	37	chr15	45491299	45491299	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggtgacccaatgccgcctCtgtggagattgtggacaccc	7	8	13	13	2	1	2	0	1	1	1	1	4	1	3	4	3	1	0	4	3	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:45491299C>T	ENST00000318390.6	-	2	145		c.e2-1		RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000290894.8_5'UTR|CTD-2651B20.7_ENST00000568314.1_RNA			B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		AATGCCGCCTCTGTGGAGATT	0.597											OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	8					0	0	0	0	T	45491299	C	T	45491299	5	4	197	1	0	0	0	0	0	0	1	0	14365	928	32	2		2	SHF	15	45491299	Splice_Site	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2369157	45491299	57040093	409	35130											
SLC28A2	9153	broad.mit.edu	37	chr15	45560574	45560574	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatacaggggctcactttcCaggtaaaggattacatttgt	12	12	9	8	0	1	0	1	0	0	0	2	1	2	1	1	4	2	2	1	4	4	5	rs142426040	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:45560574C>T	ENST00000347644.3	+	13	1431	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	456					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GCTCACTTTCCAGGTAAAGGA	0.493													65	97					0	0	0	0	T	45560574	C	T	45560574	4	4	197	1	0	0	0	0	0	1	0	0	14620	595	21	4	1412	4	SLC28A2	15	45560574	Nonsense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	69275	45560574	56970818	410	35131											
SCG3	29106	broad.mit.edu	37	chr15	51984366	51984366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactggagactccaatggCagcaattcaagatggtcttg	11	9	10	11	0	2	2	1	0	1	2	3	3	3	2	2	3	1	2	2	3	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:51984366C>A	ENST00000220478.3	+	7	1104	c.701C>A	c.(700-702)gCa>gAa	p.A234E	SCG3_ENST00000542355.2_Missense_Mutation_p.A2E	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	234					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ACTCCAATGGCAGCAATTCAA	0.378													17	98					1.64113e-05	1.79492e-05	1	0	A	51984366	C	A	51984366	3	1	197	1	0	0	0	0	1	0	0	0	13978	710	25	4	727	4	SCG3	15	51984366	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	6423792	51984366	50547026	411	35132											
UNC13C	440279	broad.mit.edu	37	chr15	54305610	54305610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcagctctgacggggaGcgtactctacatggcttaaa	10	8	14	9	2	2	1	0	1	2	0	2	3	2	2	0	4	4	4	0	4	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:54305610G>T	ENST00000545554.1	+	1	510	c.510G>T	c.(508-510)gaG>gaT	p.E170D	UNC13C_ENST00000537900.1_Missense_Mutation_p.E170D|UNC13C_ENST00000260323.11_Missense_Mutation_p.E170D			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	170					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGACGGGGAGCGTACTCTAC	0.473													25	70					1.42536e-11	1.82007e-11	1	0	T	54305610	G	T	54305610	3	4	197	1	0	0	0	0	1	0	0	0	17082	962	34	4	512	4	UNC13C	15	54305610	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2321244	54305610	48225782	412	35133											
GCOM1	145781	broad.mit.edu	37	chr15	57929944	57929944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatgaaacagaaatgtctGgggagttaactgattctgac	15	10	10	6	0	2	4	0	3	2	1	2	5	2	5	0	2	3	1	0	2	4	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:57929944G>A	ENST00000574161.1	+	9	1104	c.985G>A	c.(985-987)Ggg>Agg	p.G329R	GCOM1_ENST00000396180.1_Missense_Mutation_p.G298R|GCOM1_ENST00000380560.2_Missense_Mutation_p.G260R|GCOM1_ENST00000587652.1_Missense_Mutation_p.G329R|GCOM1_ENST00000380568.3_Missense_Mutation_p.G329R|GCOM1_ENST00000380569.2_Missense_Mutation_p.G329R|MYZAP_ENST00000267853.5_Missense_Mutation_p.G329R|MYZAP_ENST00000380565.4_Missense_Mutation_p.G329R|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380561.2_Missense_Mutation_p.G298R|GCOM1_ENST00000572390.1_Missense_Mutation_p.G329R	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		329					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AGAAATGTCTGGGGAGTTAAC	0.383													6	9					0	0	0	0	A	57929944	G	A	57929944	3	1	197	1	0	0	0	0	1	0	0	0	6354	1348	47	4	1019	4	GCOM1	15	57929944	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	3624334	57929944	44601448	413	35134											
NOX5	79400	broad.mit.edu	37	chr15	69347810	69347810	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacggggctgcagacgcgCacccagcctgggcggcctga	7	4	15	15	4	1	2	1	1	0	1	1	2	1	2	3	4	2	3	3	4	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:69347810C>T	ENST00000260364.5	+	16	2383	c.2082C>T	c.(2080-2082)cgC>cgT	p.R694R	NOX5_ENST00000448182.3_Silent_p.R666R|NOX5_ENST00000455873.3_Silent_p.R677R|NOX5_ENST00000530406.2_Silent_p.R684R|NOX5_ENST00000388866.3_Silent_p.R712R			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	712					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGCAGACGCGCACCCAGCCTG	0.607													18	27					0	0	0	0	T	69347810	C	T	69347810	2	4	197	1	0	0	0	0	0	0	0	1	10629	697	25	4		4	NOX5	15	69347810	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	11417866	69347810	33183582	414	35135											
ISL2	64843	broad.mit.edu	37	chr15	76630854	76630854	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcggcctgcatctgccCggtaagcgcgccggggcctg	3	5	16	17	6	1	0	0	0	1	0	1	0	1	0	5	4	3	2	5	4	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:76630854C>A	ENST00000290759.4	+	3	670	c.511_splice	c.e3+1	p.P170_splice		NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	170						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						TGCATCTGCCCGGTAAGCGCG	0.726													18	22					3.52763e-06	3.93305e-06	1	0	A	76630854	C	A	76630854	5	1	197	1	0	0	0	0	0	0	1	0	7910	666	23	3	520	3	ISL2	15	76630854	Splice_Site	SNP	C	TCGA-CR-7370-01A-11D-2129-08	7283044	76630854	25900538	415	35136											
CIB2	10518	broad.mit.edu	37	chr15	78398049	78398049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcctgccctgctctgccCtgcccaagcccggcccctgt	2	7	10	22	2	1	0	0	0	1	0	1	0	1	0	8	2	5	1	8	2	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:78398049C>T	ENST00000560618.1	-	4	586	c.445G>A	c.(445-447)Ggg>Agg	p.G149R	CIB2_ENST00000539011.1_Intron|CIB2_ENST00000557846.1_Intron|CIB2_ENST00000258930.3_Intron			O75838	CIB2_HUMAN	calcium and integrin binding family member 2	0	EF-hand 3.						calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CTGCTCTGCCCTGCCCAAGCC	0.632													17	34					0	0	0	0	T	78398049	C	T	78398049	3	4	197	1	0	0	0	0	1	0	0	0	3450	696	24	4		4	CIB2	15	78398049	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1767195	78398049	24133343	416	35137											
IREB2	3658	broad.mit.edu	37	chr15	78758820	78758820	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgtccttttcatttgcaAccagtgcctgagtatgagat	8	15	9	9	0	1	2	1	2	0	1	2	3	2	2	3	0	3	2	3	0	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:78758820A>G	ENST00000258886.8	+	5	767	c.618A>G	c.(616-618)caA>caG	p.Q206Q	IREB2_ENST00000560440.1_Silent_p.Q206Q|IREB2_ENST00000559427.1_3'UTR	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	206							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTCATTTGCAACCAGTGCCTG	0.383													23	51					0	0	0	0	G	78758820	A	G	78758820	2	3	197	1	0	0	0	0	0	0	0	1	7879	40	2	5		5	IREB2	15	78758820	Silent	SNP	A	TCGA-CR-7370-01A-11D-2129-08	360771	78758820	23772572	417	35138											
IREB2	3658	broad.mit.edu	37	chr15	78765606	78765606	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggaggcattgaaacagaAgcagttatgcttggtctgcc	10	11	13	7	0	1	2	0	1	1	1	1	3	1	3	1	3	4	5	1	3	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:78765606A>G	ENST00000258886.8	+	8	1055	c.906A>G	c.(904-906)gaA>gaG	p.E302E	IREB2_ENST00000560440.1_Silent_p.E302E	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	302							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTGAAACAGAAGCAGTTATGC	0.388													50	117					0	0	0	0	G	78765606	A	G	78765606	2	3	197	1	0	0	0	0	0	0	0	1	7879	69	3	5		5	IREB2	15	78765606	Silent	SNP	A	TCGA-CR-7370-01A-11D-2129-08	6786	78765606	23765786	418	35139											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059741	79059741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgagaccagttccccacagCccaggtggccggacagggta	9	5	13	14	1	0	1	0	1	0	1	1	3	1	2	5	4	1	2	5	4	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:79059741C>A	ENST00000388820.4	-	18	3049	c.2839G>T	c.(2839-2841)Gct>Tct	p.A947S	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	947	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TTCCCCACAGCCCAGGTGGCC	0.652													16	19					9.16793e-09	1.09226e-08	1	0	A	79059741	C	A	79059741	3	1	197	1	0	0	0	0	1	0	0	0	271	739	26	4	2249	4	ADAMTS7	15	79059741	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	294135	79059741	23471651	419	35140											
ZFAND6	54469	broad.mit.edu	37	chr15	80423525	80423525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcgtatttttgttagcttCagtatcagacacagcacagc	10	14	7	10	1	2	1	2	0	0	1	3	1	2	1	0	0	3	5	0	0	3	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:80423525C>T	ENST00000261749.6	+	6	790	c.368C>T	c.(367-369)tCa>tTa	p.S123L	ZFAND6_ENST00000559775.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000558688.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000559157.1_Missense_Mutation_p.S111L|ZFAND6_ENST00000559835.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000558494.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000558087.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000561060.1_Missense_Mutation_p.S123L	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	123							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TTGTTAGCTTCAGTATCAGAC	0.393													9	94					0	0	0	0	T	80423525	C	T	80423525	3	4	197	1	0	0	0	0	1	0	0	0	17726	838	29	2	382	2	ZFAND6	15	80423525	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1363784	80423525	22107867	420	35141											
ZNF592	9640	broad.mit.edu	37	chr15	85326320	85326320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagagccattacccaccttCaaccagttcagtccaatctc	11	10	4	16	0	4	1	3	0	1	1	6	1	5	1	5	0	3	1	5	0	3	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:85326320C>T	ENST00000299927.3	+	1	436	c.414C>T	c.(412-414)ttC>ttT	p.F138F	ZNF592_ENST00000560079.2_Silent_p.F138F			Q92610	ZN592_HUMAN	zinc finger protein 592	138					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TACCCACCTTCAACCAGTTCA	0.478													42	139					0	0	0	0	T	85326320	C	T	85326320	2	4	197	1	0	0	0	0	0	0	0	1	18117	825	29	2		2	ZNF592	15	85326320	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4902795	85326320	17205072	421	35142											
SLC28A1	9154	broad.mit.edu	37	chr15	85431063	85431063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaagggtctggagaacatGggggctgatttcttggaaag	10	9	16	6	0	2	2	0	1	2	1	2	4	2	3	1	5	1	1	1	5	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:85431063G>T	ENST00000394573.1	+	3	274	c.72G>T	c.(70-72)atG>atT	p.M24I	SLC28A1_ENST00000537216.1_Missense_Mutation_p.M24I|SLC28A1_ENST00000537624.1_Missense_Mutation_p.M24I|SLC28A1_ENST00000538177.1_Missense_Mutation_p.M24I|SLC28A1_ENST00000537703.1_5'UTR|SLC28A1_ENST00000338602.2_Missense_Mutation_p.M24I|SLC28A1_ENST00000286749.3_Missense_Mutation_p.M24I	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	24					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGGAGAACATGGGGGCTGATT	0.567													31	50					1.82574e-34	2.88947e-34	1	0	T	85431063	G	T	85431063	3	4	197	1	0	0	0	0	1	0	0	0	14619	1348	47	4	74	4	SLC28A1	15	85431063	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	104743	85431063	17100329	422	35143											
RHCG	51458	broad.mit.edu	37	chr15	90019999	90019999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactcacctcccagtagaccGcatcctcaaagcagttctca	12	8	5	16	1	3	1	3	0	1	1	6	1	5	1	4	0	2	4	4	0	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:90019999G>T	ENST00000268122.4	-	9	1366	c.1298C>A	c.(1297-1299)gCg>gAg	p.A433E	RHCG_ENST00000544600.1_Missense_Mutation_p.A433E	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	433					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CCAGTAGACCGCATCCTCAAA	0.562													26	50					2.08973e-25	3.18577e-25	1	0	T	90019999	G	T	90019999	3	4	197	1	0	0	0	0	1	0	0	0	13409	1087	38	3	149	3	RHCG	15	90019999	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	4588936	90019999	12511393	423	35144											
TELO2	9894	broad.mit.edu	37	chr16	1552736	1552736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcgccagagagccctggtgGccgtcacggtcacagacccg	7	5	14	15	4	2	2	2	0	0	2	2	3	2	2	4	3	2	0	4	3	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:1552736G>T	ENST00000262319.6	+	14	2023	c.1744G>T	c.(1744-1746)Gcc>Tcc	p.A582S	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	582						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGCCCTGGTGGCCGTCACGGT	0.672													33	92					1.58521e-26	2.43652e-26	1	0	T	1552736	G	T	1552736	3	4	197	1	0	0	0	0	1	0	0	0	15851	1203	42	4	1794	4	TELO2	16	1552736	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08		1552736	88802017	424	35145											
ZNF200	7752	broad.mit.edu	37	chr16	3274518	3274518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgagagaccaaggaagaatCcatttcatcatcatctgaag	15	9	8	9	0	4	4	3	2	1	2	5	6	5	5	2	1	0	0	2	1	4	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:3274518C>T	ENST00000431561.3	-	5	1174	c.562G>A	c.(562-564)Gat>Aat	p.D188N	ZNF200_ENST00000414144.2_Missense_Mutation_p.D188N|ZNF200_ENST00000575948.1_Missense_Mutation_p.D187N|ZNF200_ENST00000396868.3_Missense_Mutation_p.D187N|ZNF200_ENST00000396870.4_Missense_Mutation_p.D187N|ZNF200_ENST00000396871.4_Missense_Mutation_p.D187N|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						AAGGAAGAATCCATTTCATCA	0.398													34	57					0	0	0	0	T	3274518	C	T	3274518	3	4	197	1	0	0	0	0	1	0	0	0	17857	855	30	2	629	2	ZNF200	16	3274518	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1721782	3274518	87080235	425	35146											
GRIN2A	2903	broad.mit.edu	37	chr16	9923430	9923430	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggtccctttaggattctgGacaggcacggagttattgaa	9	12	13	7	1	1	1	0	1	1	0	2	4	2	4	1	5	0	2	1	5	3	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:9923430G>T	ENST00000396573.2	-	10	2166	c.1857C>A	c.(1855-1857)gtC>gtA	p.V619V	GRIN2A_ENST00000562109.1_Silent_p.V619V|GRIN2A_ENST00000396575.2_Silent_p.V619V|GRIN2A_ENST00000404927.2_Silent_p.V619V|GRIN2A_ENST00000535259.1_Silent_p.V462V|GRIN2A_ENST00000330684.3_Silent_p.V619V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	619					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGGATTCTGGACAGGCACGG	0.488													34	64					4.3181e-19	6.14404e-19	1	0	T	9923430	G	T	9923430	2	4	197	1	0	0	0	0	0	0	0	1	6829	1161	41	2		2	GRIN2A	16	9923430	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	6648912	9923430	80431323	426	35147											
GPR139	124274	broad.mit.edu	37	chr16	20043241	20043241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggcggctgccatggtgCggaaccgcttgctgatgaag	6	8	17	10	4	0	2	0	2	0	0	0	3	0	3	2	4	4	3	2	4	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:20043241C>T	ENST00000570682.1	-	2	1178	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	293						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGCCATGGTGCGGAACCGCTT	0.512													51	98					0	0	0	0	T	20043241	C	T	20043241	3	4	197	1	0	0	0	0	1	0	0	0	6697	768	27	1	187	1	GPR139	16	20043241	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	10119811	20043241	70311512	427	35148											
OTOA	146183	broad.mit.edu	37	chr16	21696600	21696600	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaccagccccagaagcTgctggaggacctgaggaaga	11	5	13	12	0	1	3	0	1	1	2	1	6	1	6	4	3	4	3	4	3	2	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:21696600T>A	ENST00000388958.3	+	6	318	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	OTOA_ENST00000286149.4_Missense_Mutation_p.L106Q|OTOA_ENST00000388956.4_Missense_Mutation_p.L27Q	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	106					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CCCCAGAAGCTGCTGGAGGAC	0.577													28	32					0	0	0	0	A	21696600	T	A	21696600	3	1	197	1	0	0	0	0	1	0	0	0	11373	1580	55	5	373	5	OTOA	16	21696600	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	1653359	21696600	68658153	428	35149											
EEF2K	29904	broad.mit.edu	37	chr16	22271832	22271832	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcatccagagaccatgaTcatctagacaaccaccgggt	13	7	9	12	1	2	3	1	1	1	2	3	4	3	3	4	2	1	1	4	2	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:22271832T>G	ENST00000263026.5	+	11	1755	c.1281T>G	c.(1279-1281)gaT>gaG	p.D427E		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	427					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GAGACCATGATCATCTAGACA	0.542													60	91					0	0	0	0	G	22271832	T	G	22271832	3	3	197	1	0	0	0	0	1	0	0	0	4966	1432	50	5	1319	5	EEF2K	16	22271832	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	575232	22271832	68082921	429	35150											
PALB2	79728	broad.mit.edu	37	chr16	23647270	23647270	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttcagatttaagacttaaAaggtgagttcttatttcagt	13	16	8	4	0	3	3	2	1	1	2	3	3	3	3	0	1	0	2	0	1	4	7			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:23647270A>C	ENST00000261584.4	-	4	749	c.597T>G	c.(595-597)ctT>ctG	p.L199L		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	199	Interaction with BRCA1.|Interaction with RAD51.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAAGACTTAAAAGGTGAGTTC	0.378			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					93	135					0	0	0	0	C	23647270	A	C	23647270	2	2	197	1	0	0	0	0	0	0	0	1	11477	1	1	5		5	PALB2	16	23647270	Silent	SNP	A	TCGA-CR-7370-01A-11D-2129-08	1375438	23647270	66707483	430	35151											
TNRC6A	27327	broad.mit.edu	37	chr16	24800997	24800997	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacaatagaatgaatgcttGgggcactgtaagttcttcat	13	12	9	7	0	2	2	1	1	1	1	2	2	2	2	0	2	2	4	0	2	6	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:24800997G>C	ENST00000395799.3	+	6	1163	c.1034G>C	c.(1033-1035)tGg>tCg	p.W345S	TNRC6A_ENST00000315183.7_Missense_Mutation_p.W345S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	345	Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGAATGCTTGGGGCACTGTA	0.438													45	101					0	0	0	0	C	24800997	G	C	24800997	3	2	197	1	0	0	0	0	1	0	0	0	16434	1357	47	4	1056	4	TNRC6A	16	24800997	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1153727	24800997	65553756	431	35152											
C16orf93	90835	broad.mit.edu	37	chr16	30770417	30770417	+	Missense_Mutation	SNP	C	C	T																															ctccatctccttgctttcttCtttctctgcaaaccagaagc																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:30770417C>T	ENST00000543610.1	-	8	1694	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000541260.1_Missense_Mutation_p.E310K	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	245										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TTGCTTTCTTCTTTCTCTGCA	0.597													163	144					0	0	0	0	T	30770417	C	T	30770417	3	4	197	1	0	0	0	0	1	0	0	0	1859	922	32	2	270	2	C16orf93	16	30770417	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	5969420	30770417	59584336	432	35153	266	2									
C16orf93	90835	broad.mit.edu	37	chr16	30770423	30770423	+	Splice_Site	SNP	C	C	T																															ctccttgctttcttctttctCtgcaaaccagaagcaggaag																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:30770423C>T	ENST00000543610.1	-	8	1689		c.e8-1		PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000541260.1_Splice_Site	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93											breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TCTTCTTTCTCTGCAAACCAG	0.587													148	139					0	0	0	0	T	30770423	C	T	30770423	5	4	197	1	0	0	0	0	0	0	1	0	1859	927	32	2	276	2	C16orf93	16	30770423	Splice_Site	SNP	C	TCGA-CR-7370-01A-11D-2129-08	6	30770423	59584330	433	35154	266	2									
C16orf93	90835	broad.mit.edu	37	chr16	30771764	30771764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaccctagctccagcagctCagccagcacccttgggaggg	9	5	11	16	0	1	0	1	0	0	0	2	1	2	1	4	2	5	4	4	2	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:30771764C>G	ENST00000543610.1	-	4	1271	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000545825.1_Missense_Mutation_p.E104Q|C16orf93_ENST00000541260.1_Missense_Mutation_p.E104Q	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	104										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TCCAGCAGCTCAGCCAGCACC	0.597													33	40					0	0	0	0	G	30771764	C	G	30771764	3	3	197	1	0	0	0	0	1	0	0	0	1859	835	29	2	709	2	C16orf93	16	30771764	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1341	30771764	59582989	434	35155											
PRSS8	5652	broad.mit.edu	37	chr16	31143906	31143906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgcagtggcttgggcgtCaggaggctcactgtgggggt	4	10	19	8	1	2	0	2	0	0	0	2	1	2	1	0	6	2	4	0	6	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:31143906C>T	ENST00000317508.6	-	5	812	c.549G>A	c.(547-549)ctG>ctA	p.L183L	PRSS8_ENST00000568261.1_Silent_p.L129L	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	183	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						GCTTGGGCGTCAGGAGGCTCA	0.612													37	40					0	0	0	0	T	31143906	C	T	31143906	2	4	197	1	0	0	0	0	0	0	0	1	12714	813	29	2		2	PRSS8	16	31143906	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	372142	31143906	59210847	435	35156											
CDH1	999	broad.mit.edu	37	chr16	68842735	68842735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcctctggatagagaacGcattgccacatacactgtaa	14	8	9	10	1	1	2	0	0	1	2	1	4	1	3	2	1	4	2	2	1	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:68842735G>A	ENST00000261769.5	+	5	862	c.671G>A	c.(670-672)cGc>cAc	p.R224H	CDH1_ENST00000422392.2_Missense_Mutation_p.R224H|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	224	Cadherin 1.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GATAGAGAACGCATTGCCACA	0.483			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				4	30					0	0	0	0	A	68842735	G	A	68842735	3	1	197	1	0	0	0	0	1	0	0	0	3124	1087	38	1	689	1	CDH1	16	68842735	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	37698829	68842735	21512018	436	35157											
DPH1	1801	broad.mit.edu	37	chr17	1936719	1936719	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcgggggcaccggcaggcCctgaaaagggatccctattc	9	5	15	12	2	0	1	0	1	0	0	2	3	1	2	3	5	1	2	3	5	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:1936719C>A	ENST00000570477.1	+	0	33				DPH1_ENST00000263083.6_Intron			Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1						peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						accggcaggccctgaaaaggg	0.512													22	29					0.000295444	0.000315281	1	0	A	1936719	C	A	1936719	1	1	197	1	0	0	0	0	0	0	0	0	4755	638	22	4		4	DPH1	17	1936719	Translation_Start_Site	SNP	C	TCGA-CR-7370-01A-11D-2129-08		1936719	79258491	437	35158											
ZBTB4	57659	broad.mit.edu	37	chr17	7366417	7366417	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccatctcctctccgctCagctccccaggacgcaggtc	5	9	7	20	2	3	0	1	0	2	0	9	1	6	1	6	2	1	3	6	2	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:7366417C>A	ENST00000311403.4	-	4	2223	c.1884G>T	c.(1882-1884)ctG>ctT	p.L628L	ZBTB4_ENST00000380599.4_Silent_p.L628L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	628	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		cctcTCCGCTCAGCTCCCCAG	0.607													6	7					0.00307968	0.00320854	1	0	A	7366417	C	A	7366417	2	1	197	1	0	0	0	0	0	0	0	1	17636	813	29	2		2	ZBTB4	17	7366417	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	5429698	7366417	73828793	438	35159											
TP53	7157	broad.mit.edu	37	chr17	7577569	7577569	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgcaggaactgttacAcatgtagttgtagtggatgg	10	11	13	7	0	0	0	0	0	0	0	0	2	0	2	1	3	3	5	1	3	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:7577569A>T	ENST00000420246.2	-	7	844	c.712T>A	c.(712-714)Tgt>Agt	p.C238S	TP53_ENST00000359597.4_Missense_Mutation_p.C238S|TP53_ENST00000445888.2_Missense_Mutation_p.C238S|TP53_ENST00000455263.2_Missense_Mutation_p.C238S|TP53_ENST00000413465.2_Missense_Mutation_p.C238S|TP53_ENST00000269305.4_Missense_Mutation_p.C238S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238R(14)|p.C238S(12)|p.0?(8)|p.?(5)|p.C238G(4)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.C238fs*2(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.C145G(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.M237fs*1(1)|p.C238fs*9(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAACTGTTACACATGTAGTTG	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	54					0	0	0	0	T	7577569	A	T	7577569	3	4	197	1	0	0	0	0	1	0	0	0	16476	159	6	5	578	5	TP53	17	7577569	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	211152	7577569	73617641	439	35160											
DNAH2	146754	broad.mit.edu	37	chr17	7662908	7662908	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtcattttgaagaatgatCtgcaaggaagtgtggcacag	12	12	12	5	0	2	3	1	2	1	1	2	4	2	4	0	2	1	2	0	2	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:7662908C>G	ENST00000572933.1	+	16	4077	c.2617C>G	c.(2617-2619)Ctg>Gtg	p.L873V	DNAH2_ENST00000389173.2_Missense_Mutation_p.L873V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	873	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAAGAATGATCTGCAAGGAAG	0.448													10	98					0	0	0	0	G	7662908	C	G	7662908	3	3	197	1	0	0	0	0	1	0	0	0	4639	912	32	2	2675	2	DNAH2	17	7662908	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	85339	7662908	73532302	440	35161											
CHD3	1107	broad.mit.edu	37	chr17	7814256	7814256	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggccgccgcaggcgccaAttacagccagatgcctgcag	8	5	12	16	3	0	1	0	0	0	1	0	1	0	1	6	2	4	2	6	2	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:7814256A>G	ENST00000380358.4	+	39	6024	c.6023A>G	c.(6022-6024)aAt>aGt	p.N2008S	CHD3_ENST00000358181.4_Missense_Mutation_p.N1915S|CHD3_ENST00000330494.7_Missense_Mutation_p.N1949S	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1949					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCAGGCGCCAATTACAGCCAG	0.632													63	92					0	0	0	0	G	7814256	A	G	7814256	3	3	197	1	0	0	0	0	1	0	0	0	3355	101	4	5	6281	5	CHD3	17	7814256	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	151348	7814256	73380954	441	35162											
MYH10	4628	broad.mit.edu	37	chr17	8451705	8451705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttccaaactgtagcactGaagatactactttaagcatt	14	14	5	8	0	0	2	0	1	0	1	1	2	1	2	1	0	5	3	1	0	7	8			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:8451705G>A	ENST00000360416.3	-	11	1223	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	MYH10_ENST00000396239.1_Missense_Mutation_p.S352L|MYH10_ENST00000379980.4_Missense_Mutation_p.S368L|MYH10_ENST00000269243.4_Missense_Mutation_p.S352L	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	352	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTGTAGCACTGAAGATACTAC	0.299													52	49					0	0	0	0	A	8451705	G	A	8451705	3	1	197	1	0	0	0	0	1	0	0	0	10100	1294	45	2	5003	2	MYH10	17	8451705	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	637449	8451705	72743505	442	35163											
GLP2R	9340	broad.mit.edu	37	chr17	9792910	9792910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggagctgggcgcccagcCccaacaggaccatgcacgct	8	4	14	15	2	0	0	0	0	0	0	0	2	0	2	4	4	4	3	4	4	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:9792910C>A	ENST00000262441.5	+	13	2063	c.1550C>A	c.(1549-1551)cCc>cAc	p.P517H	GLP2R_ENST00000574745.1_Missense_Mutation_p.P337H	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	517					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GGCGCCCAGCCCCAACAGGAC	0.632													24	29					1.10923e-09	1.35171e-09	1	0	A	9792910	C	A	9792910	3	1	197	1	0	0	0	0	1	0	0	0	6504	623	22	4	1600	4	GLP2R	17	9792910	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1341205	9792910	71402300	443	35164											
MYH13	8735	broad.mit.edu	37	chr17	10206572	10206572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcagcttgtccaccaggtCctggagcctaaggatattct	8	11	10	12	0	1	0	0	0	1	0	3	2	3	2	4	3	3	2	4	3	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10206572C>A	ENST00000418404.3	-	38	5771	c.5608G>T	c.(5608-5610)Gac>Tac	p.D1870Y	MYH13_ENST00000252172.4_Missense_Mutation_p.D1870Y|MYH13_ENST00000570743.1_Missense_Mutation_p.D1870Y			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1870					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCACCAGGTCCTGGAGCCTA	0.582													92	154					1.11883e-47	1.81688e-47	1	0	A	10206572	C	A	10206572	3	1	197	1	0	0	0	0	1	0	0	0	10102	855	30	2	220	2	MYH13	17	10206572	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	413662	10206572	70988638	444	35165											
MYH8	4626	broad.mit.edu	37	chr17	10310220	10310220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtcttaccaggagttttgGtttcattgggaatgatacac	9	15	11	6	0	2	1	1	1	1	0	2	3	2	3	1	3	2	2	1	3	3	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10310220G>A	ENST00000403437.2	-	18	2136	c.2042C>T	c.(2041-2043)aCc>aTc	p.T681I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	681	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGGAGTTTTGGTTTCATTGGG	0.388									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				8	65					0	0	0	0	A	10310220	G	A	10310220	3	1	197	1	0	0	0	0	1	0	0	0	10111	1261	44	4	3863	4	MYH8	17	10310220	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	103648	10310220	70884990	445	35166											
MYH4	4622	broad.mit.edu	37	chr17	10351938	10351938	+	Frame_Shift_Del	DEL	G	G	-																															tgattacagtgactcacgttGtaagttcttattctctcgct																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10351938delG	ENST00000255381.2	-	32	4638	c.4528delC	c.(4528-4530)aafs	p.Q1511fs	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1511					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GACTCACGTTGTAAGTTCTTA	0.378													44	93	---	---	---	---					-	10351938	G	-	10351938	7	5	197	1	0	1	0	1	0	0	0	0	10107	1386	48	0	1327	0	MYH4	17	10351938	Frame_Shift_Del	DEL	G	TCGA-CR-7370-01A-11D-2129-08	41718	10351938	70843272	446	35167											
MYH4	4622	broad.mit.edu	37	chr17	10364260	10364260	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatctggctctgcctgctCttccctttgcttttgcttga	2	17	8	14	0	3	1	0	1	3	0	4	1	4	1	3	1	4	4	3	1	0	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10364260C>A	ENST00000255381.2	-	12	1230	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	374	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTGCCTGCTCTTCCCTTTGC	0.493													50	89					9.22156e-22	1.356e-21	1	0	A	10364260	C	A	10364260	4	1	197	1	0	0	0	0	0	1	0	0	10107	922	32	2	4815	2	MYH4	17	10364260	Nonsense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	12322	10364260	70830950	447	35168											
MYH4	4622	broad.mit.edu	37	chr17	10366498	10366498	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagtaactcgggacttctcTagcagatctggaagtcagat	13	10	10	8	1	3	2	1	0	2	2	5	4	3	4	0	2	2	2	0	2	4	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10366498T>C	ENST00000255381.2	-	10	923	c.813A>G	c.(811-813)ctA>ctG	p.L271L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	271	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L271L(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGACTTCTCTAGCAGATCTG	0.353													26	43					0	0	0	0	C	10366498	T	C	10366498	2	2	197	1	0	0	0	0	0	0	0	1	10107	1509	53	5		5	MYH4	17	10366498	Silent	SNP	T	TCGA-CR-7370-01A-11D-2129-08	2238	10366498	70828712	448	35169											
MYH3	4621	broad.mit.edu	37	chr17	10554888	10554888	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtggggtggggcctccTggcgctttttgcctcggtag	3	12	17	9	2	0	1	0	0	0	1	2	1	1	1	3	6	1	2	3	6	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10554888T>A	ENST00000583535.1	-	5	533	c.446A>T	c.(445-447)cAg>cTg	p.Q149L	MYH3_ENST00000226209.7_Missense_Mutation_p.Q149L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	149	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGGGGCCTCCTGGCGCTTTTT	0.577													86	180					0	0	0	0	A	10554888	T	A	10554888	3	1	197	1	0	0	0	0	1	0	0	0	10106	1580	55	5	5524	5	MYH3	17	10554888	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	188390	10554888	70640322	449	35170											
MYO15A	51168	broad.mit.edu	37	chr17	18030103	18030103	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaatgacctgtctccccAggcacctctttgctgttgca	6	13	7	15	0	3	1	0	1	3	0	4	1	3	1	4	1	2	4	4	1	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:18030103A>G	ENST00000205890.5	+	6	4204		c.e6-1			NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA						sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTGTCTCCCCAGGCACCTCTT	0.552													52	97					0	0	0	0	G	18030103	A	G	18030103	5	3	197	1	0	0	0	0	0	0	1	0	10133	202	7	5	3883	5	MYO15A	17	18030103	Splice_Site	SNP	A	TCGA-CR-7370-01A-11D-2129-08	7475215	18030103	63165107	450	35171											
FBXW10	10517	broad.mit.edu	37	chr17	18653137	18653137	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgatccctgcaatctatTggttgacctggatgacatca	10	12	9	10	1	2	2	1	2	1	0	3	4	3	3	2	2	2	3	2	2	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:18653137T>C	ENST00000308799.4	+	3	992	c.773T>C	c.(772-774)tTg>tCg	p.L258S	FBXW10_ENST00000395667.1_Missense_Mutation_p.L258S|FBXW10_ENST00000301938.4_Missense_Mutation_p.L258S|FBXW10_ENST00000395665.4_Missense_Mutation_p.L258S			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	258										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGCAATCTATTGGTTGACCTG	0.468													50	162					0	0	0	0	C	18653137	T	C	18653137	3	2	197	1	0	0	0	0	1	0	0	0	5808	1821	63	5	783	5	FBXW10	17	18653137	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	623034	18653137	62542073	451	35172											
MAP2K3	5606	broad.mit.edu	37	chr17	21205550	21205550	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgacaattccagaggacatCcttggggagattgctgtgtc	10	11	12	8	0	0	3	0	1	0	2	3	5	2	4	2	3	1	1	2	3	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:21205550C>A	ENST00000342679.4	+	6	744	c.495C>A	c.(493-495)atC>atA	p.I165I	MAP2K3_ENST00000361818.5_Silent_p.I136I|MAP2K3_ENST00000316920.6_Silent_p.I136I	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	165	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAGAGGACATCCTTGGGGAGA	0.582													16	52					6.49762e-13	8.54528e-13	1	0	A	21205550	C	A	21205550	2	1	197	1	0	0	0	0	0	0	0	1	9307	845	30	2		2	MAP2K3	17	21205550	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2552413	21205550	59989660	452	35173											
KCNJ12	3768	broad.mit.edu	37	chr17	21318731	21318731	+	Missense_Mutation	SNP	C	C	T																															gctgcacctggtcaccatgtCgggcgccaacggcttcggca																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:21318731C>T	ENST00000583088.1	+	3	972	c.77C>T	c.(76-78)tCg>tTg	p.S26L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S26L	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GTCACCATGTCGGGCGCCAAC	0.662										Prostate(3;0.18)			4	45					0	0	0	0	T	21318731	C	T	21318731	3	4	197	1	0	0	0	0	1	0	0	0	8099	893	31	1	79	1	KCNJ12	17	21318731	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	113181	21318731	59876479	453	35174	267	2									
KCNJ12	3768	broad.mit.edu	37	chr17	21318732	21318732	+	Silent	SNP	G	G	C																															ctgcacctggtcaccatgtcGggcgccaacggcttcggcaa																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:21318732G>C	ENST00000583088.1	+	3	973	c.78G>C	c.(76-78)tcG>tcC	p.S26S	KCNJ12_ENST00000331718.5_Silent_p.S26S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TCACCATGTCGGGCGCCAACG	0.662										Prostate(3;0.18)			6	43					0	0	0	0	C	21318732	G	C	21318732	2	2	197	1	0	0	0	0	0	0	0	1	8099	1103	39	3		3	KCNJ12	17	21318732	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1	21318732	59876478	454	35175	267	2									
NOS2	4843	broad.mit.edu	37	chr17	26084314	26084314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgggctgcaccgccacCctgtccttcttcgcctcgta	3	11	9	18	3	1	0	0	0	1	0	4	0	2	0	5	1	2	4	5	1	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:26084314C>A	ENST00000313735.6	-	27	3653	c.3420G>T	c.(3418-3420)agG>agT	p.R1140S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1140					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCACCGCCACCCTGTCCTTCT	0.537											OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	57					4.527e-37	7.21038e-37	1	0	A	26084314	C	A	26084314	3	1	197	1	0	0	0	0	1	0	0	0	10613	622	22	4	45	4	NOS2	17	26084314	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4765582	26084314	55110896	455	35176											
SUPT6H	6830	broad.mit.edu	37	chr17	27008409	27008409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcgtgtcagggaagaGggagatgaagaaggttagtg	13	7	18	3	1	1	5	1	2	0	3	1	7	1	6	0	3	1	1	0	3	5	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:27008409G>T	ENST00000314616.6	+	12	1768	c.1485G>T	c.(1483-1485)gaG>gaT	p.E495D	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E495D	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	495					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCAGGGAAGAGGGAGATGAAG	0.468													24	41					6.12954e-19	8.65551e-19	1	0	T	27008409	G	T	27008409	3	4	197	1	0	0	0	0	1	0	0	0	15490	991	35	4	1527	4	SUPT6H	17	27008409	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	924095	27008409	54186801	456	35177											
CCL1	6346	broad.mit.edu	37	chr17	32690143	32690143	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttccggccacatcccagctAgcagcaagcacaccagggct	10	5	9	17	1	0	0	0	0	0	0	2	0	2	0	4	2	4	5	4	2	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:32690143A>T	ENST00000225842.3	-	1	107	c.38T>A	c.(37-39)cTa>cAa	p.L13Q		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	13					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		CATCCCAGCTAGCAGCAAGCA	0.562													20	30					0	0	0	0	T	32690143	A	T	32690143	3	4	197	1	0	0	0	0	1	0	0	0	2909	420	15	5	264	5	CCL1	17	32690143	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	5681734	32690143	48505067	457	35178											
SLFN13	146857	broad.mit.edu	37	chr17	33768373	33768373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccgggtctctgctcggcaGatatttctatcactgtaaaa	9	13	8	11	2	3	1	1	0	2	1	6	1	4	1	1	2	1	3	1	2	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:33768373G>A	ENST00000285013.6	-	6	2210	c.1935C>T	c.(1933-1935)atC>atT	p.I645I	SLFN13_ENST00000360502.2_Silent_p.I327I|SLFN13_ENST00000526861.1_Silent_p.I645I|SLFN13_ENST00000542635.1_Silent_p.I645I|SLFN13_ENST00000534689.1_Silent_p.I327I|SLFN13_ENST00000533791.1_Silent_p.I645I	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	645						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTGCTCGGCAGATATTTCTAT	0.388													26	53					0	0	0	0	A	33768373	G	A	33768373	2	1	197	1	0	0	0	0	0	0	0	1	14824	932	33	2		2	SLFN13	17	33768373	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1078230	33768373	47426837	458	35179											
TOP2A	7153	broad.mit.edu	37	chr17	38564238	38564238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttatgagaagcttctCgaacattgagtatttttcct	9	16	7	9	1	1	2	0	2	1	1	3	4	2	2	2	0	3	3	2	0	4	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:38564238C>A	ENST00000423485.1	-	12	1639	c.1481G>T	c.(1480-1482)cGa>cTa	p.R494L		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	494					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AGAAGCTTCTCGAACATTGAG	0.373													36	68					1.59932e-28	2.47349e-28	1	0	A	38564238	C	A	38564238	3	1	197	1	0	0	0	0	1	0	0	0	16460	884	31	3	3210	3	TOP2A	17	38564238	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4795865	38564238	42630972	459	35180											
KRT10	3858	broad.mit.edu	37	chr17	38975866	38975866	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtattcagtattctggcactCggtttcagctcgaatctgtt	7	16	9	9	2	4	0	2	0	2	0	6	1	4	0	0	2	1	6	0	2	3	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:38975866C>G	ENST00000269576.5	-	6	1285	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	426	Coil 2.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TTCTGGCACTCGGTTTCAGCT	0.483													6	135					0	0	0	0	G	38975866	C	G	38975866	3	3	197	1	0	0	0	0	1	0	0	0	8500	893	31	3	490	3	KRT10	17	38975866	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	411628	38975866	42219344	460	35181											
CNTNAP1	8506	broad.mit.edu	37	chr17	40847817	40847817	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttcagcttcagcaccAgctccgcccctgctgtcctg	4	11	7	19	1	3	0	2	0	1	0	6	0	5	0	6	0	4	4	6	0	0	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:40847817A>T	ENST00000264638.4	+	19	3488	c.3271A>T	c.(3271-3273)Agc>Tgc	p.S1091C	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1091	Laminin G-like 4.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTTCAGCACCAGCTCCGCCCC	0.617													34	47					0	0	0	0	T	40847817	A	T	40847817	3	4	197	1	0	0	0	0	1	0	0	0	3676	188	7	5	3345	5	CNTNAP1	17	40847817	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	1871951	40847817	40347393	461	35182											
G6PC	2538	broad.mit.edu	37	chr17	41052904	41052904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaaatgaggatggaggaagGaatgaatgttctccatgact	14	9	14	4	0	1	3	0	3	1	0	2	8	1	8	1	5	0	1	1	5	4	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:41052904G>A	ENST00000253801.2	+	1	90	c.11G>A	c.(10-12)gGa>gAa	p.G4E	G6PC_ENST00000592383.1_Missense_Mutation_p.G4E|G6PC_ENST00000585489.1_Missense_Mutation_p.G4E	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	4					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ATGGAGGAAGGAATGAATGTT	0.498													10	46					0	0	0	0	A	41052904	G	A	41052904	3	1	197	1	0	0	0	0	1	0	0	0	6191	1174	41	2	13	2	G6PC	17	41052904	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	205087	41052904	40142306	462	35183											
CACNA1G	8913	broad.mit.edu	37	chr17	48676874	48676874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccggaacagcctcggccGtgcacccagcctgaagcgga	9	3	13	16	4	0	1	0	1	0	0	1	3	0	3	5	3	6	1	5	3	2	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:48676874G>T	ENST00000352832.5	+	16	3647	c.3275G>T	c.(3274-3276)cGt>cTt	p.R1092L	CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1092L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1115L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1115L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1092L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1115L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1092L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1115L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1092L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1092L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1115L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1092L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1092L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1115					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCCTCGGCCGTGCACCCAGC	0.677													10	9					4.68919e-08	5.49032e-08	1	0	T	48676874	G	T	48676874	3	4	197	1	0	0	0	0	1	0	0	0	2569	1145	40	3	3410	3	CACNA1G	17	48676874	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	7623970	48676874	32518336	463	35184											
C17orf47	284083	broad.mit.edu	37	chr17	56620307	56620307	+	Missense_Mutation	SNP	G	G	T																															acctaggtaaggaccgaggaGgcaagggcctaggggtcagt																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:56620307G>T	ENST00000321691.3	-	1	1422	c.1241C>A	c.(1240-1242)cCt>cAt	p.P414H	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	414										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGACCGAGGAGGCAAGGGCCT	0.527													24	79					4.7796e-09	5.74013e-09	1	0	T	56620307	G	T	56620307	3	4	197	1	0	0	0	0	1	0	0	0	1873	1000	35	4	479	4	C17orf47	17	56620307	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	7943433	56620307	24574903	464	35185	268	3									
C17orf47	284083	broad.mit.edu	37	chr17	56620308	56620308	+	Missense_Mutation	SNP	G	G	T																															cctaggtaaggaccgaggagGcaagggcctaggggtcagtt																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:56620308G>T	ENST00000321691.3	-	1	1421	c.1240C>A	c.(1240-1242)Cct>Act	p.P414T	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	414										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACCGAGGAGGCAAGGGCCTA	0.527													22	79					3.08376e-08	3.62767e-08	1	0	T	56620308	G	T	56620308	3	4	197	1	0	0	0	0	1	0	0	0	1873	1203	42	4	480	4	C17orf47	17	56620308	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1	56620308	24574902	465	35186	268	3									
C17orf47	284083	broad.mit.edu	37	chr17	56620309	56620309	+	Silent	SNP	C	C	T																															ctaggtaaggaccgaggaggCaagggcctaggggtcagttc																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:56620309C>T	ENST00000321691.3	-	1	1420	c.1239G>A	c.(1237-1239)ttG>ttA	p.L413L	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	413										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCGAGGAGGCAAGGGCCTAG	0.532													21	80					0	0	0	0	T	56620309	C	T	56620309	2	4	197	1	0	0	0	0	0	0	0	1	1873	709	25	4		4	C17orf47	17	56620309	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1	56620309	24574901	466	35187	268	3									
USP32	84669	broad.mit.edu	37	chr17	58258936	58258936	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatatctgcccagccccatTttctttgctggcatccaagt	8	13	6	14	0	2	0	0	0	2	0	3	0	3	0	4	1	3	2	4	1	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:58258936T>A	ENST00000300896.4	-	32	4491	c.4297A>T	c.(4297-4299)Aat>Tat	p.N1433Y	USP32_ENST00000592339.1_Missense_Mutation_p.N1103Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1433					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCAGCCCCATTTTCTTTGCTG	0.552													17	55					0	0	0	0	A	58258936	T	A	58258936	3	1	197	1	0	0	0	0	1	0	0	0	17159	1841	64	5	529	5	USP32	17	58258936	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	1638627	58258936	22936274	467	35188											
ACE	1636	broad.mit.edu	37	chr17	61557822	61557822	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgccttcgtccgccgCgcactgcatcgccgatacgg	5	8	10	18	7	0	0	0	0	0	0	4	1	2	0	5	1	3	2	5	1	1	2	rs4302	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:61557822C>T	ENST00000290866.4	+	5	804	c.780C>T	c.(778-780)cgC>cgT	p.R260R	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.R260R|ACE_ENST00000538928.1_Silent_p.R260R	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	260	Peptidase M2 1.		R -> C (in dbSNP:rs4302).|R -> L (in dbSNP:rs4303).		arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCGTCCGCCGCGCACTGCATC	0.607													31	65					0	0	0	0	T	61557822	C	T	61557822	2	4	197	1	0	0	0	0	0	0	0	1	136	755	27	1		1	ACE	17	61557822	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3298886	61557822	19637388	468	35189											
TEX2	55852	broad.mit.edu	37	chr17	62291328	62291328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcagggccggcggggtCatggccaacttggggttcaa	7	6	18	10	2	2	0	2	0	0	0	2	0	2	0	2	8	2	3	2	8	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:62291328C>A	ENST00000258991.3	-	2	334	c.250G>T	c.(250-252)Gac>Tac	p.D84Y	TEX2_ENST00000583097.1_Missense_Mutation_p.D84Y|TEX2_ENST00000584379.1_Missense_Mutation_p.D84Y			Q8IWB9	TEX2_HUMAN	testis expressed 2	84					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCGGCGGGGTCATGGCCAACT	0.577													97	160					1.26289e-39	2.02442e-39	1	0	A	62291328	C	A	62291328	3	1	197	1	0	0	0	0	1	0	0	0	15875	826	29	2	3198	2	TEX2	17	62291328	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	733506	62291328	18903882	469	35190											
PITPNC1	26207	broad.mit.edu	37	chr17	65628289	65628289	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagccaaagacgtggagAgagaagtttgctttattgat	14	11	12	4	1	0	5	0	2	0	3	0	7	0	5	1	1	2	2	1	1	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:65628289A>T	ENST00000580974.1	+	6	1093	c.397A>T	c.(397-399)Aga>Tga	p.R133*	PITPNC1_ENST00000581322.1_Nonsense_Mutation_p.R133*|PITPNC1_ENST00000299954.9_Nonsense_Mutation_p.R133*|PITPNC1_ENST00000335257.6_Nonsense_Mutation_p.R133*	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	133					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AGACGTGGAGAGAGAAGTTTG	0.433													22	32					0	0	0	0	T	65628289	A	T	65628289	4	4	197	1	0	0	0	0	0	1	0	0	12021	296	11	5	419	5	PITPNC1	17	65628289	Nonsense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	3336961	65628289	15566921	470	35191											
NOL11	25926	broad.mit.edu	37	chr17	65722658	65722658	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagcttagttaaatcactGctgctcaaggctgttgtatc	10	13	9	9	0	2	1	2	0	0	1	3	1	2	1	0	1	3	7	0	1	5	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:65722658G>A	ENST00000253247.4	+	7	862	c.747G>A	c.(745-747)ctG>ctA	p.L249L	NOL11_ENST00000535137.1_Silent_p.L67L	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	249						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTAAATCACTGCTGCTCAAGG	0.458													33	42					0	0	0	0	A	65722658	G	A	65722658	2	1	197	1	0	0	0	0	0	0	0	1	10591	1306	46	4		4	NOL11	17	65722658	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	94369	65722658	15472552	471	35192											
ENOSF1	55556	broad.mit.edu	37	chr18	677394	677394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagtcaaatataatcaggtGctgcaccagttcacagaggc	13	9	10	9	0	3	1	3	0	0	1	3	1	3	1	1	2	2	4	1	2	4	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:677394G>A	ENST00000319815.6	-	6	1673	c.409C>T	c.(409-411)Cac>Tac	p.H137Y	ENOSF1_ENST00000580982.1_Missense_Mutation_p.H291Y|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Missense_Mutation_p.H285Y|ENOSF1_ENST00000251101.7_Missense_Mutation_p.H367Y|ENOSF1_ENST00000340116.7_Missense_Mutation_p.H374Y			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	367					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						ATAATCAGGTGCTGCACCAGT	0.433													6	129					0	0	0	0	A	677394	G	A	677394	3	1	197	1	0	0	0	0	1	0	0	0	5163	1319	46	4	244	4	ENOSF1	18	677394	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08		677394	77399854	472	35193											
EPB41L3	23136	broad.mit.edu	37	chr18	5397201	5397201	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttcctctttagccccCtccgtcaaggcagagccctc	5	10	6	20	1	2	1	1	0	1	1	6	1	5	1	7	1	2	1	7	1	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:5397201C>A	ENST00000341928.2	-	18	3037	c.2697G>T	c.(2695-2697)gaG>gaT	p.E899D	EPB41L3_ENST00000540638.2_Missense_Mutation_p.E677D|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E730D|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E204D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E677D|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E196D|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E899D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	899	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTTTAGCCCCCTCCGTCAAGG	0.602													175	53					2.60769e-80	4.3096e-80	1	0	A	5397201	C	A	5397201	3	1	197	1	0	0	0	0	1	0	0	0	5192	680	24	4	586	4	EPB41L3	18	5397201	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4719807	5397201	72680047	473	35194											
PTPRM	5797	broad.mit.edu	37	chr18	7888335	7888335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacgtacatggaacagggCagaactggccattagtactt	14	8	10	9	1	0	1	0	0	0	1	0	2	0	2	1	3	5	3	1	3	6	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:7888335C>A	ENST00000332175.8	+	3	1465	c.428C>A	c.(427-429)gCa>gAa	p.A143E	PTPRM_ENST00000400060.4_Missense_Mutation_p.A143E|PTPRM_ENST00000400053.4_Missense_Mutation_p.A81E|PTPRM_ENST00000580170.1_Missense_Mutation_p.A143E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	143	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGGAACAGGGCAGAACTGGCC	0.403													7	145					5.4927e-09	6.56488e-09	1	0	A	7888335	C	A	7888335	3	1	197	1	0	0	0	0	1	0	0	0	12888	710	25	4	438	4	PTPRM	18	7888335	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2491134	7888335	70188913	474	35195											
PTPRM	5797	broad.mit.edu	37	chr18	8113617	8113617	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtactactttgctgcaGaatttcctgcagacagcctc	10	11	7	13	0	0	2	0	0	0	2	2	2	1	2	2	0	6	4	2	0	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:8113617G>T	ENST00000332175.8	+	12	3027	c.1990G>T	c.(1990-1992)Gaa>Taa	p.E664*	PTPRM_ENST00000400060.4_Nonsense_Mutation_p.E664*|PTPRM_ENST00000400053.4_Nonsense_Mutation_p.E602*|PTPRM_ENST00000580170.1_Nonsense_Mutation_p.E664*|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000444013.1_Nonsense_Mutation_p.E451*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	664	Fibronectin type-III 4.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTTTGCTGCAGAATTTCCTGC	0.428													125	37					2.60151e-83	4.30893e-83	1	0	T	8113617	G	T	8113617	4	4	197	1	0	0	0	0	0	1	0	0	12888	943	33	2	2036	2	PTPRM	18	8113617	Nonsense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	225282	8113617	69963631	475	35196											
GNAL	2774	broad.mit.edu	37	chr18	11868555	11868555	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccaagatgtcacagctatCatttacgtcgcagcctgcag	11	9	8	13	2	2	1	2	0	0	1	3	1	2	1	2	0	4	3	2	0	3	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:11868555C>T	ENST00000334049.6	+	9	1532	c.924C>T	c.(922-924)atC>atT	p.I308I	GNAL_ENST00000423027.3_Silent_p.I231I|GNAL_ENST00000269162.5_Silent_p.I231I|GNAL_ENST00000535121.1_Silent_p.I231I|GNAL_ENST00000602628.1_Silent_p.I24I|GNAL_ENST00000535980.1_3'UTR	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	231					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TCACAGCTATCATTTACGTCG	0.463													11	223					0	0	0	0	T	11868555	C	T	11868555	2	4	197	1	0	0	0	0	0	0	0	1	6558	816	29	2		2	GNAL	18	11868555	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3754938	11868555	66208693	476	35197											
POTEC	388468	broad.mit.edu	37	chr18	14542920	14542920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcccacgttgctcgtgcCgctccccctgcagcagggga	5	7	13	16	3	0	0	0	0	0	0	2	1	1	1	4	2	5	5	4	2	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:14542920C>T	ENST00000358970.5	-	1	225	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	76										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGCTCGTGCCGCTCCCCCTG	0.572													14	402					0	0	0	0	T	14542920	C	T	14542920	3	4	197	1	0	0	0	0	1	0	0	0	12334	652	23	1	1446	1	POTEC	18	14542920	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2674365	14542920	63534328	477	35198											
DCC	1630	broad.mit.edu	37	chr18	50866223	50866223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcgttgggagcccttacGctgagacagtgcgtgtggac	7	9	16	9	3	0	1	0	1	0	1	0	4	0	3	1	3	3	2	1	3	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:50866223G>A	ENST00000442544.2	+	15	2921	c.2305G>A	c.(2305-2307)Gct>Act	p.A769T	DCC_ENST00000581580.1_Missense_Mutation_p.A424T|DCC_ENST00000412726.1_Missense_Mutation_p.A617T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	769	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAGCCCTTACGCTGAGACAGT	0.448													10	31					0	0	0	0	A	50866223	G	A	50866223	3	1	197	1	0	0	0	0	1	0	0	0	4314	1087	38	1	2363	1	DCC	18	50866223	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	36323303	50866223	27211025	478	35199											
CDH7	1005	broad.mit.edu	37	chr18	63547683	63547683	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagacggaaaaaagagccCcttatttttgacgaagaaag	18	7	10	6	2	0	5	0	1	0	4	0	7	0	6	2	1	1	0	2	1	7	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:63547683C>A	ENST00000397968.2	+	12	2337	c.1911C>A	c.(1909-1911)ccC>ccA	p.P637P	CDH7_ENST00000323011.3_Silent_p.P637P	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	637					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AAAAAGAGCCCCTTATTTTTG	0.458													10	18					0.000442599	0.000469633	1	0	A	63547683	C	A	63547683	2	1	197	1	0	0	0	0	0	0	0	1	3144	610	22	4		4	CDH7	18	63547683	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	12681460	63547683	14529565	479	35200											
TSHZ1	10194	broad.mit.edu	37	chr18	72997606	72997606	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgcccttcagtgagagcAgcgaccagctagcccatttc	8	8	11	14	2	1	1	1	1	0	1	3	3	1	1	3	1	4	2	3	1	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:72997606A>T	ENST00000322038.5	+	2	693	c.109A>T	c.(109-111)Agc>Tgc	p.S37C	TSHZ1_ENST00000580243.1_Missense_Mutation_p.S82C	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	82						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGTGAGAGCAGCGACCAGCT	0.597													9	10					0	0	0	0	T	72997606	A	T	72997606	3	4	197	1	0	0	0	0	1	0	0	0	16718	188	7	5	111	5	TSHZ1	18	72997606	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	9449923	72997606	5079642	480	35201											
ANKRD24	170961	broad.mit.edu	37	chr19	4216937	4216937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagctgaggccacaggaGccaaggtcacagaaacaaaa	16	2	13	10	1	1	2	1	1	0	1	1	4	1	4	2	4	3	1	2	4	4	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:4216937G>T	ENST00000600132.1	+	18	2056	c.1780G>T	c.(1780-1782)Gcc>Tcc	p.A594S	ANKRD24_ENST00000318934.4_Missense_Mutation_p.A594S|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A684S	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	594										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGCCACAGGAGCCAAGGTCAC	0.562													3	11					0.004672	0.00482042	1	0	T	4216937	G	T	4216937	3	4	197	1	0	0	0	0	1	0	0	0	653	971	34	4	1846	4	ANKRD24	19	4216937	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08		4216937	54912046	481	35202											
MUC16	94025	broad.mit.edu	37	chr19	9074423	9074423	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagtggcttgtgtcttGgtgacatgagtagtagcatc	10	12	14	5	0	1	3	0	2	1	1	2	4	1	3	0	2	1	4	0	2	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:9074423G>T	ENST00000397910.4	-	3	13226	c.13023C>A	c.(13021-13023)acC>acA	p.T4341T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4343	Ser-rich.|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						CTTGTGTCTTGGTGACATGAG	0.483													4	26					1.06961e-07	1.23876e-07	1	0	T	9074423	G	T	9074423	2	4	197	1	0	0	0	0	0	0	0	1	10043	1335	47	4		4	MUC16	19	9074423	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	4857486	9074423	50054560	482	35203											
CDC37	11140	broad.mit.edu	37	chr19	10505718	10505718	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttaatcttagtgaagaactgCcggaagcaggcccgggggtc	10	8	14	9	2	1	2	0	1	1	1	2	3	1	3	2	4	3	1	2	4	5	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:10505718C>A	ENST00000222005.2	-	5	758	c.705G>T	c.(703-705)cgG>cgT	p.R235R		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	235					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TGAAGAACTGCCGGAAGCAGG	0.587													78	22					4.97629e-18	6.93523e-18	1	0	A	10505718	C	A	10505718	2	1	197	1	0	0	0	0	0	0	0	1	3097	726	26	4		4	CDC37	19	10505718	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1431295	10505718	48623265	483	35204											
ZNF878	729747	broad.mit.edu	37	chr19	12154763	12154763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaaatgaaggctttccCacactgtttacatttatagg	13	12	9	7	0	0	2	0	1	0	1	1	3	1	3	1	3	1	2	1	3	6	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:12154763C>G	ENST00000602107.1	-	5	1593	c.1594G>C	c.(1594-1596)Ggg>Cgg	p.G532R	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.G485R|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAGGCTTTCCCACACTGTTTA	0.383													49	13					0	0	0	0	G	12154763	C	G	12154763	3	3	197	1	0	0	0	0	1	0	0	0	18289	594	21	4	146	4	ZNF878	19	12154763	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1649045	12154763	46974220	484	35205											
ZNF709	163051	broad.mit.edu	37	chr19	12577309	12577309	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgatttttgtgatcttcaAtgttcttctcctcccagttt	5	20	5	11	0	4	2	1	2	3	0	6	2	5	2	3	0	0	2	3	0	1	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:12577309A>C	ENST00000397732.3	-	3	326	c.155T>G	c.(154-156)aTt>aGt	p.I52S	CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.I52S|ZNF709_ENST00000428311.1_Missense_Mutation_p.I52S	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GTGATCTTCAATGTTCTTCTC	0.338													7	113					0	0	0	0	C	12577309	A	C	12577309	3	2	197	1	0	0	0	0	1	0	0	0	18208	101	4	5	1778	5	ZNF709	19	12577309	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	422546	12577309	46551674	485	35206											
WIZ	58525	broad.mit.edu	37	chr19	15537872	15537872	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccccatgaagggccccCggcagcatctcccgcttgat	7	8	10	16	2	1	2	0	2	1	0	3	2	2	2	5	2	1	4	5	2	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:15537872C>A	ENST00000389282.4	-	6	3786	c.3573G>T	c.(3571-3573)ccG>ccT	p.P1191P	WIZ_ENST00000599910.1_Silent_p.P508P|WIZ_ENST00000545156.1_Silent_p.P505P|WIZ_ENST00000263381.6_Silent_p.P334P|WIZ_ENST00000599686.2_Silent_p.P375P			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1191						nucleus	zinc ion binding	p.E331fs*9(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GAAGGGCCCCCGGCAGCATCT	0.607													75	22					5.02462e-34	7.93529e-34	1	0	A	15537872	C	A	15537872	2	1	197	1	0	0	0	0	0	0	0	1	17471	639	23	3		3	WIZ	19	15537872	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2960563	15537872	43591111	486	35207											
PIK3R2	5296	broad.mit.edu	37	chr19	18271316	18271316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acttgcccgagcagttctccCcacctgatgtggctccccct	5	10	8	18	1	1	1	0	1	1	0	3	2	2	1	6	1	2	3	6	1	0	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:18271316C>T	ENST00000593731.1	+	3	918	c.358C>T	c.(358-360)Cca>Tca	p.P120S	PIK3R2_ENST00000222254.7_Missense_Mutation_p.P120S			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	120	Rho-GAP.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GCAGTTCTCCCCACCTGATGT	0.602													29	34					0	0	0	0	T	18271316	C	T	18271316	3	4	197	1	0	0	0	0	1	0	0	0	11991	623	22	4	364	4	PIK3R2	19	18271316	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2733444	18271316	40857667	487	35208											
ZNF737	100129842	broad.mit.edu	37	chr19	20727787	20727787	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtagtaagggaagaggagtActtaaaggcttcgccacatt	13	10	12	6	1	0	1	0	0	0	1	1	3	0	3	1	3	1	4	1	3	6	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:20727787A>G	ENST00000427401.4	-	4	1316	c.1222T>C	c.(1222-1224)Tac>Cac	p.Y408H		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	408					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GAAGAGGAGTACTTAAAGGCT	0.428													21	43					0	0	0	0	G	20727787	A	G	20727787	3	3	197	1	0	0	0	0	1	0	0	0	18220	391	14	5	392	5	ZNF737	19	20727787	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	2456471	20727787	38401196	488	35209											
DPY19L3	147991	broad.mit.edu	37	chr19	32954307	32954307	+	Frame_Shift_Del	DEL	A	A	-																															acaatccgtgggtaaaatggAaaaaggcacagttgacctga																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:32954307delA	ENST00000342179.5	+	13	1573	c.1358delA	c.(1357-1359)gafs	p.E453fs	DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Frame_Shift_Del_p.E453fs|DPY19L3_ENST00000392250.2_Frame_Shift_Del_p.E453fs	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	453						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GGTAAAATGGAAAAAGGCACA	0.333													46	60	---	---	---	---					-	32954307	A	-	32954307	7	5	197	1	0	1	0	1	0	0	0	0	4778	246	9	0	1404	0	DPY19L3	19	32954307	Frame_Shift_Del	DEL	A	TCGA-CR-7370-01A-11D-2129-08	12226520	32954307	26174676	489	35210											
ZNF568	374900	broad.mit.edu	37	chr19	37440567	37440567	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttcagacattgttacttCaagacaaagcttctatgact	13	13	7	8	0	3	3	2	1	1	2	3	4	3	3	0	0	2	3	0	0	4	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:37440567C>A	ENST00000415168.1	+	5	696	c.320C>A	c.(319-321)tCa>tAa	p.S107*	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Nonsense_Mutation_p.S171*	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	171	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTGTTACTTCAAGACAAAGC	0.338													8	93					0.000157383	0.000168673	1	0	A	37440567	C	A	37440567	4	1	197	1	0	0	0	0	0	1	0	0	18094	838	29	2	530	2	ZNF568	19	37440567	Nonsense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4486260	37440567	21688416	490	35211											
GGN	199720	broad.mit.edu	37	chr19	38876144	38876144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacaggagttaagcacctgGaagggcagccagtggcgcgc	10	4	17	10	2	0	0	0	0	0	0	0	3	0	3	2	5	2	3	2	5	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:38876144G>T	ENST00000334928.6	-	3	1890	c.1758C>A	c.(1756-1758)ttC>ttA	p.F586L	GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	586	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TAAGCACCTGGAAGGGCAGCC	0.667													15	27					8.60227e-14	1.1434e-13	1	0	T	38876144	G	T	38876144	3	4	197	1	0	0	0	0	1	0	0	0	6409	1165	41	2	208	2	GGN	19	38876144	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1435577	38876144	20252839	491	35212											
FAM98C	147965	broad.mit.edu	37	chr19	38899416	38899416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgggcaacgttccagaccGggggggccgcccaaatgagc	9	5	15	12	3	0	2	0	1	0	1	1	2	1	2	4	4	2	2	4	4	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:38899416G>T	ENST00000252530.5	+	8	963	c.944G>T	c.(943-945)cGg>cTg	p.R315L	FAM98C_ENST00000588262.1_Silent_p.P181P|FAM98C_ENST00000343358.7_Missense_Mutation_p.R233L	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCCAGACCGGGGGGGCCGC	0.562													24	69					9.86323e-18	1.36949e-17	1	0	T	38899416	G	T	38899416	3	4	197	1	0	0	0	0	1	0	0	0	5703	1116	39	3	974	3	FAM98C	19	38899416	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	23272	38899416	20229567	492	35213											
NCCRP1	342897	broad.mit.edu	37	chr19	39691333	39691333	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccaagaaccgcatggaGcctggtgggctgcggcggac	9	4	17	11	3	0	1	0	0	0	1	0	3	0	3	3	6	3	2	3	6	3	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:39691333G>C	ENST00000339852.4	+	6	787	c.765G>C	c.(763-765)gaG>gaC	p.E255D		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	255	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						ACCGCATGGAGCCTGGTGGGC	0.632													121	196					0	0	0	0	C	39691333	G	C	39691333	3	2	197	1	0	0	0	0	1	0	0	0	10283	962	34	4	787	4	NCCRP1	19	39691333	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	791917	39691333	19437650	493	35214											
PRX	57716	broad.mit.edu	37	chr19	40909731	40909731	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accccggtctgcgcctccgtCtccacgataatttccaccaa	8	9	6	18	4	2	0	0	0	2	0	5	1	4	0	7	1	1	0	7	1	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:40909731C>G	ENST00000291825.7	-	5	334	c.66G>C	c.(64-66)gaG>gaC	p.E22D	PRX_ENST00000324001.7_Missense_Mutation_p.E22D	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	periaxin	22	PDZ.				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGCCTCCGTCTCCACGATAA	0.692													6	15					0	0	0	0	G	40909731	C	G	40909731	3	3	197	1	0	0	0	0	1	0	0	0	12721	912	32	2	4394	2	PRX	19	40909731	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1218398	40909731	18219252	494	35215											
TGFB1	7040	broad.mit.edu	37	chr19	41854358	41854358	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcttgaacttgtcatagaTttctagcagggagaaatgaa	13	12	10	6	0	2	4	1	2	1	2	2	5	2	4	0	1	3	2	0	1	5	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:41854358T>C	ENST00000221930.5	-	2	1224	c.358A>G	c.(358-360)Atc>Gtc	p.I120V		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	120					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	TTGTCATAGATTTCTAGCAGG	0.527													45	68					0	0	0	0	C	41854358	T	C	41854358	3	2	197	1	0	0	0	0	1	0	0	0	15910	1493	52	5	838	5	TGFB1	19	41854358	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	944627	41854358	17274625	495	35216											
CEACAM7	1087	broad.mit.edu	37	chr19	42187790	42187790	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcacattcatagggtcctAtgtcattctttgtggcgctg	6	17	9	9	1	4	0	3	0	1	0	5	0	5	0	1	2	0	1	1	2	2	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:42187790A>T	ENST00000006724.3	-	3	833	c.632T>A	c.(631-633)aTa>aAa	p.I211K	CEACAM7_ENST00000401731.1_Missense_Mutation_p.I211K|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	211	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ATAGGGTCCTATGTCATTCTT	0.542													93	131					0	0	0	0	T	42187790	A	T	42187790	3	4	197	1	0	0	0	0	1	0	0	0	3226	449	16	5	173	5	CEACAM7	19	42187790	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	333432	42187790	16941193	496	35217											
CEACAM5	1048	broad.mit.edu	37	chr19	42224051	42224051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatgtcacaagaaatgaCgcaagagcctatgtatgtgg	14	10	10	7	1	2	3	2	1	0	2	2	3	2	3	1	1	1	2	1	1	6	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:42224051C>T	ENST00000221992.6	+	7	1809	c.1695C>T	c.(1693-1695)gaC>gaT	p.D565D	CEACAM5_ENST00000398599.4_Silent_p.D564D|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.D565D	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	565	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAAGAAATGACGCAAGAGCCT	0.517													99	125					0	0	0	0	T	42224051	C	T	42224051	2	4	197	1	0	0	0	0	0	0	0	1	3224	535	19	1		1	CEACAM5	19	42224051	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	36261	42224051	16904932	497	35218											
RELB	5971	broad.mit.edu	37	chr19	45540703	45540703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgctgccagaccctgaCttcttctctggcaccgtgtc	4	11	9	17	1	2	2	0	1	2	1	4	2	2	2	4	1	2	2	4	1	0	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:45540703C>A	ENST00000221452.8	+	12	1545	c.1395C>A	c.(1393-1395)gaC>gaA	p.D465E	RELB_ENST00000505236.1_Missense_Mutation_p.D462E|RELB_ENST00000540120.1_Missense_Mutation_p.D465E	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	465						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CAGACCCTGACTTCTTCTCTG	0.632													41	193					5.44703e-19	7.72093e-19	1	0	A	45540703	C	A	45540703	3	1	197	1	0	0	0	0	1	0	0	0	13299	564	20	4	1433	4	RELB	19	45540703	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3316652	45540703	13588280	498	35219											
CCDC8	83987	broad.mit.edu	37	chr19	46914604	46914604	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctctccggcgcttgcaaaaCcacgaaaagcgtccaggggt	10	6	12	13	4	1	0	0	0	1	0	3	1	2	0	3	3	3	3	3	3	4	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:46914604C>T	ENST00000307522.3	-	1	2237	c.1464G>A	c.(1462-1464)tgG>tgA	p.W488*		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	488						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCTTGCAAAACCACGAAAAGC	0.622													37	57					0	0	0	0	T	46914604	C	T	46914604	4	4	197	1	0	0	0	0	0	1	0	0	2880	508	18	4	156	4	CCDC8	19	46914604	Nonsense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1373901	46914604	12214379	499	35220											
GYS1	2997	broad.mit.edu	37	chr19	49488819	49488819	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccctttccatgcagtatCggtggtagatctgcctctcc	5	12	9	15	2	2	1	0	0	2	1	5	1	3	1	5	2	2	3	5	2	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:49488819C>A	ENST00000323798.3	-	5	918	c.722G>T	c.(721-723)cGa>cTa	p.R241L	GYS1_ENST00000541188.1_Missense_Mutation_p.R161L|GYS1_ENST00000540532.1_Missense_Mutation_p.R161L|GYS1_ENST00000263276.6_Missense_Mutation_p.R177L|GYS1_ENST00000544287.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	241					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CATGCAGTATCGGTGGTAGAT	0.577													26	56					4.87955e-14	6.52062e-14	1	0	A	49488819	C	A	49488819	3	1	197	1	0	0	0	0	1	0	0	0	6962	884	31	3	1539	3	GYS1	19	49488819	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2574215	49488819	9640164	500	35221											
PRR12	57479	broad.mit.edu	37	chr19	50123642	50123642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgtctgctcaaaaccaGggcgatgcgggagatgtacc	9	7	15	10	3	2	1	1	0	1	1	2	3	2	1	2	3	4	2	2	3	3	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:50123642G>T	ENST00000418929.2	+	10	5543	c.5531G>T	c.(5530-5532)aGg>aTg	p.R1844M		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1023							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)		CTCAAAACCAGGGCGATGCGG	0.582													3	16					0.004672	0.00482042	1	0	T	50123642	G	T	50123642	3	4	197	1	0	0	0	0	1	0	0	0	12664	1000	35	4	5569	4	PRR12	19	50123642	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	634823	50123642	9005341	501	35222											
CPT1C	126129	broad.mit.edu	37	chr19	50204810	50204810	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacttcgactggaccgcggtCctggcgcaggaattcctgag	7	8	14	12	4	0	1	0	1	0	0	3	5	2	3	3	4	0	1	3	4	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:50204810C>A	ENST00000392518.4	+	7	984	c.612C>A	c.(610-612)gtC>gtA	p.V204V	CPT1C_ENST00000598293.1_Silent_p.V204V|CPT1C_ENST00000405931.2_Silent_p.V204V|CPT1C_ENST00000323446.5_Silent_p.V204V|CPT1C_ENST00000354199.5_Silent_p.V204V	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	204					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGACCGCGGTCCTGGCGCAGG	0.672													27	31					2.12542e-12	2.766e-12	1	0	A	50204810	C	A	50204810	2	1	197	1	0	0	0	0	0	0	0	1	3863	842	30	2		2	CPT1C	19	50204810	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	81168	50204810	8924173	502	35223											
AP2A1	160	broad.mit.edu	37	chr19	50305113	50305113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccccagcagcaacgacatCaacgggggcatggagcccac	12	2	12	15	2	1	0	1	0	0	0	1	3	1	1	3	3	5	3	3	3	2	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:50305113C>T	ENST00000354293.5	+	14	2086	c.1920C>T	c.(1918-1920)atC>atT	p.I640I	AP2A1_ENST00000359032.5_Silent_p.I640I	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	640					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GCAACGACATCAACGGGGGCA	0.716													6	4					0	0	0	0	T	50305113	C	T	50305113	2	4	197	1	0	0	0	0	0	0	0	1	740	816	29	2		2	AP2A1	19	50305113	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	100303	50305113	8823870	503	35224											
NUP62	23636	broad.mit.edu	37	chr19	50412135	50412135	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggccaggtggagcggtCacggcagctgctgtattgct	6	8	16	11	2	1	0	1	0	0	0	1	1	1	1	2	5	4	5	2	5	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:50412135C>A	ENST00000596217.1	-	2	2817	c.930G>T	c.(928-930)gtG>gtT	p.V310V	NUP62_ENST00000422090.2_Silent_p.V310V|NUP62_ENST00000352066.3_Silent_p.V310V|NUP62_ENST00000413454.1_Silent_p.V310V|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000597029.1_Silent_p.V310V|IL4I1_ENST00000595948.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	310	Ala-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTGGAGCGGTCACGGCAGCTG	0.652													25	54					4.22769e-11	5.35269e-11	1	0	A	50412135	C	A	50412135	2	1	197	1	0	0	0	0	0	0	0	1	10839	813	29	2		2	NUP62	19	50412135	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	107022	50412135	8716848	504	35225											
SIGLEC9	27180	broad.mit.edu	37	chr19	51633327	51633327	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtactcggagatcaagatCcacagatgagaaactgcaga	16	6	11	8	1	1	5	1	1	0	5	3	8	2	5	1	1	3	2	1	1	3	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:51633327C>A	ENST00000250360.3	+	7	1450	c.1383C>A	c.(1381-1383)atC>atA	p.I461I	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	461					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGATCAAGATCCACAGATGAG	0.542													22	50					1.28384e-07	1.46865e-07	1	0	A	51633327	C	A	51633327	2	1	197	1	0	0	0	0	0	0	0	1	14403	845	30	2		2	SIGLEC9	19	51633327	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1221192	51633327	7495656	505	35226											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52149112	52149112	+	Frame_Shift_Del	DEL	C	C	-																															cctgacaggtgaggttggtgCcatggtcctcgggcctgggg																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:52149112delC	ENST00000360844.6	-	3	664	c.623delG	c.(622-624)gcfs	p.G208fs	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	208	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.G208A(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GAGGTTGGTGCCATGGTCCTC	0.637													35	54	---	---	---	---					-	52149112	C	-	52149112	7	5	197	1	0	1	0	1	0	0	0	0	14397	739	26	0	587	0	SIGLEC14	19	52149112	Frame_Shift_Del	DEL	C	TCGA-CR-7370-01A-11D-2129-08	515785	52149112	6979871	506	35227											
ZNF649	65251	broad.mit.edu	37	chr19	52394076	52394076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagacatatagaagtaaGctttctcacactcatcacag	15	9	7	10	0	3	2	3	0	1	2	4	2	3	2	0	1	1	3	0	1	5	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:52394076G>A	ENST00000354957.3	-	5	1597	c.1313C>T	c.(1312-1314)gCt>gTt	p.A438V	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.A410V	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		ATAGAAGTAAGCTTTCTCACA	0.448													99	195					0	0	0	0	A	52394076	G	A	52394076	3	1	197	1	0	0	0	0	1	0	0	0	18159	971	34	4	208	4	ZNF649	19	52394076	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	244964	52394076	6734907	507	35228											
ZNF615	284370	broad.mit.edu	37	chr19	52496176	52496176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacaaggatagacaagtgcGcaaaagctttcccacaatca	17	7	7	10	1	1	1	1	0	0	1	2	2	2	2	1	1	3	2	1	1	7	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:52496176G>A	ENST00000602063.1	-	6	2502	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	ZNF615_ENST00000598071.1_Missense_Mutation_p.A729V|ZNF615_ENST00000391795.3_Missense_Mutation_p.A723V|ZNF615_ENST00000594083.1_Missense_Mutation_p.A729V|ZNF615_ENST00000376716.5_Missense_Mutation_p.A718V			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	718					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGACAAGTGCGCAAAAGCTTT	0.438													76	103					0	0	0	0	A	52496176	G	A	52496176	3	1	197	1	0	0	0	0	1	0	0	0	18135	1087	38	1	46	1	ZNF615	19	52496176	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	102100	52496176	6632807	508	35229											
ZNF528	84436	broad.mit.edu	37	chr19	52919907	52919907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccatagaattcacattgGagagaaaccttacaaatgca	17	9	6	9	0	2	2	2	0	0	2	2	4	2	3	2	1	3	1	2	1	5	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:52919907G>T	ENST00000360465.3	+	7	2228	c.1802G>T	c.(1801-1803)gGa>gTa	p.G601V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	601					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G601A(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATTCACATTGGAGAGAAACCT	0.418													34	62					9.80977e-26	1.49855e-25	1	0	T	52919907	G	T	52919907	3	4	197	1	0	0	0	0	1	0	0	0	18064	1174	41	2	1816	2	ZNF528	19	52919907	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	423731	52919907	6209076	509	35230											
ZNF83	55769	broad.mit.edu	37	chr19	53122257	53122257	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcctctgagcagggtccAggcatttccactcctcctga	7	10	10	14	0	1	2	0	2	1	0	6	3	6	2	5	2	1	2	5	2	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:53122257A>T	ENST00000600714.1	-	4	356	c.74T>A	c.(73-75)cTg>cAg	p.L25Q	ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000601257.1_Missense_Mutation_p.L25Q|ZNF83_ENST00000596930.1_Missense_Mutation_p.L25Q|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000597161.1_Missense_Mutation_p.L25Q|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000597597.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		AGCAGGGTCCAGGCATTTCCA	0.468													36	135					0	0	0	0	T	53122257	A	T	53122257	3	4	197	1	0	0	0	0	1	0	0	0	18276	203	7	5		5	ZNF83	19	53122257	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	202350	53122257	6006726	510	35231											
ZNF415	55786	broad.mit.edu	37	chr19	53612438	53612438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactctccgatgtagtgcaAggcatgagttgcgactgaaa	12	9	12	8	2	1	2	0	2	1	0	2	5	1	2	1	1	3	4	1	1	4	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:53612438A>G	ENST00000455735.2	-	7	1324	c.1004T>C	c.(1003-1005)cTt>cCt	p.L335P	ZNF415_ENST00000243643.4_Missense_Mutation_p.L287P|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.L335P|ZNF415_ENST00000440291.1_Missense_Mutation_p.L274P|ZNF415_ENST00000421033.1_Missense_Mutation_p.L299P|ZNF415_ENST00000500065.4_Missense_Mutation_p.L287P|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.L57P			Q09FC8	ZN415_HUMAN	zinc finger protein 415	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	p.L287H(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		ATGTAGTGCAAGGCATGAGTT	0.413													11	75					0	0	0	0	G	53612438	A	G	53612438	3	3	197	1	0	0	0	0	1	0	0	0	17987	72	3	5	811	5	ZNF415	19	53612438	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	490181	53612438	5516545	511	35232											
NLRP12	91662	broad.mit.edu	37	chr19	54297343	54297343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggttttgttactcgaagcGctgccaacctactgtgggtc	8	12	11	10	2	0	0	0	0	0	0	2	1	0	0	2	2	5	3	2	2	5	4	rs146786265	by1000genomes	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:54297343G>T	ENST00000324134.6	-	10	3314	c.3146C>A	c.(3145-3147)gCg>gAg	p.A1049E	NLRP12_ENST00000391773.1_Missense_Mutation_p.A1050E|NLRP12_ENST00000391775.3_Missense_Mutation_p.A992E|NLRP12_ENST00000354278.3_Missense_Mutation_p.A880E|NLRP12_ENST00000351894.4_Missense_Mutation_p.A937E|NLRP12_ENST00000535162.1_Missense_Mutation_p.A992E|NLRP12_ENST00000345770.5_Missense_Mutation_p.A994E|NLRP12_ENST00000391772.1_Missense_Mutation_p.A880E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1049					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TACTCGAAGCGCTGCCAACCT	0.463													21	54					5.35356e-11	6.7325e-11	1	0	T	54297343	G	T	54297343	3	4	197	1	0	0	0	0	1	0	0	0	10544	1087	38	3	43	3	NLRP12	19	54297343	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	684905	54297343	4831640	512	35233											
CACNG7	59284	broad.mit.edu	37	chr19	54418659	54418659	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttccccatggtcagcctCttcctcgtgttcacggcctt	3	13	7	18	2	3	0	2	0	1	0	6	0	5	0	6	2	1	1	6	2	0	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:54418659C>A	ENST00000391767.1	+	4	536	c.324C>A	c.(322-324)ctC>ctA	p.L108L	CACNG7_ENST00000391766.1_Silent_p.L108L|CACNG7_ENST00000222212.2_Silent_p.L108L|CACNG7_ENST00000468076.1_3'UTR			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	108					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGGTCAGCCTCTTCCTCGTGT	0.607													22	32					1.85244e-09	2.25004e-09	1	0	A	54418659	C	A	54418659	2	1	197	1	0	0	0	0	0	0	0	1	2587	900	32	2		2	CACNG7	19	54418659	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	121316	54418659	4710324	513	35234											
TMC4	147798	broad.mit.edu	37	chr19	54666867	54666867	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaagagcaggaccaccaGggaggcgaggcgaagaaaca	17	0	16	8	2	0	3	0	0	0	3	0	8	0	5	2	4	2	1	2	4	3	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:54666867G>C	ENST00000376591.4	-	9	1452	c.1321C>G	c.(1321-1323)Ctg>Gtg	p.L441V	TMC4_ENST00000301187.4_Missense_Mutation_p.L435V|TMC4_ENST00000416963.1_Missense_Mutation_p.L23V	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	441						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGGACCACCAGGGAGGCGAGG	0.577													15	30					0	0	0	0	C	54666867	G	C	54666867	3	2	197	1	0	0	0	0	1	0	0	0	16081	991	35	4	845	4	TMC4	19	54666867	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	248208	54666867	4462116	514	35235											
LAIR2	3904	broad.mit.edu	37	chr19	55019221	55019221	+	Missense_Mutation	SNP	G	G	T																															caaacattccgcctggagagGgaggatagagccaagtacaa																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:55019221G>T	ENST00000301202.2	+	3	308	c.186G>T	c.(184-186)agG>agT	p.R62S	LAIR2_ENST00000351841.2_Missense_Mutation_p.R62S	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	62	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GCCTGGAGAGGGAGGATAGAG	0.527													50	76					1.23713e-20	1.79444e-20	1	0	T	55019221	G	T	55019221	3	4	197	1	0	0	0	0	1	0	0	0	8656	1223	43	4	196	4	LAIR2	19	55019221	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	352354	55019221	4109762	515	35236	269	2									
LAIR2	3904	broad.mit.edu	37	chr19	55019222	55019222	+	Nonsense_Mutation	SNP	G	G	T																															aaacattccgcctggagaggGaggatagagccaagtacaaa																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:55019222G>T	ENST00000301202.2	+	3	309	c.187G>T	c.(187-189)Gag>Tag	p.E63*	LAIR2_ENST00000351841.2_Nonsense_Mutation_p.E63*	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	63	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CCTGGAGAGGGAGGATAGAGC	0.527													51	76					2.24722e-20	3.25324e-20	1	0	T	55019222	G	T	55019222	4	4	197	1	0	0	0	0	0	1	0	0	8656	1175	41	2	197	2	LAIR2	19	55019222	Nonsense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1	55019222	4109761	516	35237	269	2									
LILRB4	11006	broad.mit.edu	37	chr19	55177323	55177323	+	Missense_Mutation	SNP	T	T	A																															ggtggtctccatcctgcttcTctccctcctcctcttcctcc																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:55177323T>A	ENST00000391736.1	+	9	1130	c.815T>A	c.(814-816)cTc>cAc	p.L272H	LILRB4_ENST00000391734.3_Missense_Mutation_p.L272H|LILRB4_ENST00000270452.2_Missense_Mutation_p.L272H|LILRB4_ENST00000391733.3_Missense_Mutation_p.L272H|LILRB4_ENST00000430952.2_Missense_Mutation_p.L272H	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	272						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		Atcctgcttctctccctcctc	0.557													8	20					0	0	0	0	A	55177323	T	A	55177323	3	1	197	1	0	0	0	0	1	0	0	0	8847	1551	54	5	841	5	LILRB4	19	55177323	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	158101	55177323	3951660	517	35238	270	2									
LILRB4	11006	broad.mit.edu	37	chr19	55177324	55177324	+	Silent	SNP	C	C	A																															gtggtctccatcctgcttctCtccctcctcctcttcctcct																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:55177324C>A	ENST00000391736.1	+	9	1131	c.816C>A	c.(814-816)ctC>ctA	p.L272L	LILRB4_ENST00000391734.3_Silent_p.L272L|LILRB4_ENST00000270452.2_Silent_p.L272L|LILRB4_ENST00000391733.3_Silent_p.L272L|LILRB4_ENST00000430952.2_Silent_p.L272L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	272						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		tcctgcttctctccctcctcc	0.557													9	19					0.00621372	0.00639345	1	0	A	55177324	C	A	55177324	2	1	197	1	0	0	0	0	0	0	0	1	8847	900	32	2		2	LILRB4	19	55177324	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1	55177324	3951659	518	35239	270	2									
NLRP8	126205	broad.mit.edu	37	chr19	56487625	56487625	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatggggtgatcctgctGtgtgaggccctgaagaaccc	8	9	15	9	0	0	5	0	4	0	1	1	6	1	5	3	3	2	1	3	3	2	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:56487625G>T	ENST00000291971.3	+	8	2903	c.2832G>T	c.(2830-2832)ctG>ctT	p.L944L	NLRP8_ENST00000590542.1_Silent_p.L925L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	944						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGATCCTGCTGTGTGAGGCCC	0.463													35	50					1.07121e-22	1.60038e-22	1	0	T	56487625	G	T	56487625	2	4	197	1	0	0	0	0	0	0	0	1	10553	1364	48	4		4	NLRP8	19	56487625	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1310301	56487625	2641358	519	35240											
PEG3	5178	broad.mit.edu	37	chr19	57325220	57325220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgcaggctcaaatatgatCatgctggcatgagttttcag	10	14	10	7	0	3	2	3	2	0	0	3	2	3	2	0	2	2	5	0	2	2	4	rs140891968		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:57325220C>G	ENST00000326441.9	-	10	4953	c.4590G>C	c.(4588-4590)atG>atC	p.M1530I	PEG3_ENST00000593695.1_Missense_Mutation_p.M1404I|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M1530I|PEG3_ENST00000598410.1_Missense_Mutation_p.M1406I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1530					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAAATATGATCATGCTGGCAT	0.478													44	69					0	0	0	0	G	57325220	C	G	57325220	3	3	197	1	0	0	0	0	1	0	0	0	11791	826	29	2	180	2	PEG3	19	57325220	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	837595	57325220	1803763	520	35241											
ZNF17	7565	broad.mit.edu	37	chr19	57931542	57931542	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaatgtggcaaattgtttAggtacaactccgaccttatt	11	14	9	7	1	0	1	0	1	0	0	1	2	1	1	2	2	2	3	2	2	6	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:57931542A>C	ENST00000307658.7	+	4	951	c.688A>C	c.(688-690)Agg>Cgg	p.R230R	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Silent_p.R228R			P17021	ZNF17_HUMAN	zinc finger protein 17	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CAAATTGTTTAGGTACAACTC	0.413													5	91					0	0	0	0	C	57931542	A	C	57931542	2	2	197	1	0	0	0	0	0	0	0	1	17838	411	15	5		5	ZNF17	19	57931542	Silent	SNP	A	TCGA-CR-7370-01A-11D-2129-08	606322	57931542	1197441	521	35242											
RSPO4	343637	broad.mit.edu	37	chr20	947818	947818	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggaggtccccactcaccCtggcactcccgtgtgttctg	4	9	12	16	2	2	0	1	0	1	0	4	1	4	1	4	4	0	2	4	4	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:947818C>T	ENST00000217260.4	-	3	504	c.409_splice	c.e3+1	p.Q136_splice	RSPO4_ENST00000400634.2_Splice_Site_p.Q136_splice	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	136					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CCCACTCACCCTGGCACTCCC	0.627													6	29					0	0	0	0	T	947818	C	T	947818	5	4	197	1	0	0	0	0	0	0	1	0	13797	695	24	4	308	4	RSPO4	20	947818	Splice_Site	SNP	C	TCGA-CR-7370-01A-11D-2129-08		947818	62077702	522	35243											
PSMF1	9491	broad.mit.edu	37	chr20	1144966	1144966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcttcttgcctcaggcctCggagaggtggcatgattgtg	5	14	13	9	1	3	2	1	1	2	1	4	3	3	2	2	4	1	1	2	4	0	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:1144966C>T	ENST00000335877.6	+	6	786	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	PSMF1_ENST00000333082.3_Missense_Mutation_p.R204W|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.R116W|PSMF1_ENST00000246015.4_Missense_Mutation_p.R204W|PSMF1_ENST00000438768.2_Missense_Mutation_p.R142W	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	204	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCTCAGGCCTCGGAGAGGTGG	0.552													209	236					0	0	0	0	T	1144966	C	T	1144966	3	4	197	1	0	0	0	0	1	0	0	0	12789	875	31	1	632	1	PSMF1	20	1144966	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	197148	1144966	61880554	523	35244											
BMP2	650	broad.mit.edu	37	chr20	6759467	6759467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacgtggacttcagtgacGtggggtggaatgactggatt	8	12	16	5	2	1	2	1	2	0	0	1	5	1	5	0	5	1	1	0	5	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:6759467G>A	ENST00000378827.4	+	3	2141	c.922G>A	c.(922-924)Gtg>Atg	p.V308M		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	308					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	CTTCAGTGACGTGGGGTGGAA	0.507													26	87					0	0	0	0	A	6759467	G	A	6759467	3	1	197	1	0	0	0	0	1	0	0	0	1464	1145	40	1	928	1	BMP2	20	6759467	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	5614501	6759467	56266053	524	35245											
PLCB1	23236	broad.mit.edu	37	chr20	8609052	8609052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctcccatttgaatctcGtggctttccaagaagaagtg	11	12	8	10	1	2	3	0	1	2	2	5	3	3	3	2	1	0	1	2	1	4	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:8609052G>T	ENST00000378641.3	+	4	833	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	PLCB1_ENST00000378637.2_Missense_Mutation_p.V120L|PLCB1_ENST00000338037.6_Missense_Mutation_p.V120L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	120					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTTGAATCTCGTGGCTTTCCA	0.478													30	67					8.16721e-17	1.12563e-16	1	0	T	8609052	G	T	8609052	3	4	197	1	0	0	0	0	1	0	0	0	12099	1145	40	3	372	3	PLCB1	20	8609052	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1849585	8609052	54416468	525	35246											
SNRPB2	6629	broad.mit.edu	37	chr20	16719498	16719498	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctatttattttgcttaggGaactccaaattcagctaata	12	15	5	9	0	1	0	1	0	0	0	2	1	2	1	2	1	3	2	2	1	7	9			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:16719498G>A	ENST00000246071.6	+	5	596	c.378_splice	c.e5-1	p.G127_splice	SNRPB2_ENST00000377943.5_Splice_Site_p.G127_splice	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	127						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						TTTGCTTAGGGAACTCCAAAT	0.299													7	22					0	0	0	0	A	16719498	G	A	16719498	5	1	197	1	0	0	0	0	0	0	1	0	14950	1188	41	2	394	2	SNRPB2	20	16719498	Splice_Site	SNP	G	TCGA-CR-7370-01A-11D-2129-08	8110446	16719498	46306022	526	35247											
PAX1	5075	broad.mit.edu	37	chr20	21687098	21687098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagacgtatggcgaggtgaaCcagctgggcggtgtgttcgt	7	9	17	8	4	0	2	0	1	0	1	1	3	0	2	1	4	2	3	1	4	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:21687098C>T	ENST00000398485.2	+	2	363	c.309C>T	c.(307-309)aaC>aaT	p.N103N	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.N79N	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	103	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCGAGGTGAACCAGCTGGGCG	0.662													23	76					0	0	0	0	T	21687098	C	T	21687098	2	4	197	1	0	0	0	0	0	0	0	1	11549	506	18	4		4	PAX1	20	21687098	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4967600	21687098	41338422	527	35248											
MYLK2	85366	broad.mit.edu	37	chr20	30408307	30408307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccaggaggggctcacCtgcctttctgcatagcccca	8	7	11	15	0	2	0	1	0	1	0	2	1	2	1	5	3	5	3	5	3	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:30408307C>T	ENST00000375994.2	+	2	704	c.431C>T	c.(430-432)cCt>cTt	p.P144L	MYLK2_ENST00000375985.4_Missense_Mutation_p.P144L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	144			P -> A (in dbSNP:rs34396614).		cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGGGCTCACCTGCCTTTCTG	0.637													39	40					0	0	0	0	T	30408307	C	T	30408307	3	4	197	1	0	0	0	0	1	0	0	0	10127	681	24	4	437	4	MYLK2	20	30408307	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	8721209	30408307	32617213	528	35249											
ZNF341	84905	broad.mit.edu	37	chr20	32378871	32378871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccgagcatcagcgcgccCacacgggcaactacaagttc	10	5	10	16	5	1	0	1	0	0	0	3	1	1	0	2	1	4	3	2	1	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:32378871C>T	ENST00000375200.1	+	15	2478	c.2113C>T	c.(2113-2115)Cac>Tac	p.H705Y	RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.H698Y			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TCAGCGCGCCCACACGGGCAA	0.612													17	44					0	0	0	0	T	32378871	C	T	32378871	3	4	197	1	0	0	0	0	1	0	0	0	17952	594	21	4	2150	4	ZNF341	20	32378871	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	1970564	32378871	30646649	529	35250											
NCOA6	23054	broad.mit.edu	37	chr20	33337564	33337564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatctgagataaactgaCatcgttatttgctgtagtag	12	14	8	7	1	2	2	1	2	1	1	3	3	2	2	0	0	2	4	0	0	5	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:33337564C>A	ENST00000374796.2	-	10	5004	c.2434G>T	c.(2434-2436)Gtc>Ttc	p.V812F	NCOA6_ENST00000359003.2_Missense_Mutation_p.V812F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	812	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GATAAACTGACATCGTTATTT	0.542													48	71					1.56793e-16	2.15698e-16	1	0	A	33337564	C	A	33337564	3	1	197	1	0	0	0	0	1	0	0	0	10303	478	17	4	3785	4	NCOA6	20	33337564	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	958693	33337564	29687956	530	35251											
NCOA6	23054	broad.mit.edu	37	chr20	33345322	33345322	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagttgggaccctagagggcCctccctgcaaactcttcatc	8	9	10	14	0	2	1	1	0	1	1	4	3	3	2	3	2	2	2	3	2	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:33345322C>A	ENST00000374796.2	-	8	3799	c.1229G>T	c.(1228-1230)gGg>gTg	p.G410V	NCOA6_ENST00000359003.2_Missense_Mutation_p.G410V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	410	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTAGAGGGCCCTCCCTGCAA	0.597													23	51					2.27731e-05	2.4726e-05	1	0	A	33345322	C	A	33345322	3	1	197	1	0	0	0	0	1	0	0	0	10303	623	22	4	4998	4	NCOA6	20	33345322	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	7758	33345322	29680198	531	35252											
CDH22	64405	broad.mit.edu	37	chr20	44839176	44839176	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggatcacggtgtgcacGggctgggattcgaagtccag	8	8	15	10	3	1	0	1	0	0	0	4	3	3	2	2	4	1	2	2	4	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:44839176G>T	ENST00000372262.3	-	6	1456	c.1056C>A	c.(1054-1056)ccC>ccA	p.P352P	CDH22_ENST00000537909.1_Silent_p.P352P|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	352	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGGTGTGCACGGGCTGGGATT	0.677													16	11					2.94398e-08	3.47418e-08	1	0	T	44839176	G	T	44839176	2	4	197	1	0	0	0	0	0	0	0	1	3136	1103	39	3		3	CDH22	20	44839176	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	11493854	44839176	18186344	532	35253											
FAM65C	140876	broad.mit.edu	37	chr20	49221286	49221286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccgtggggctgggtgacaCcaggaagctctcagtatcaa	9	7	14	11	1	2	1	2	1	1	0	3	2	2	2	2	4	1	3	2	4	3	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:49221286C>G	ENST00000327979.2	-	12	1381	c.970G>C	c.(970-972)Gtg>Ctg	p.V324L	FAM65C_ENST00000045083.2_Missense_Mutation_p.V324L|FAM65C_ENST00000535356.1_Missense_Mutation_p.V328L			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	324										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGGGTGACACCAGGAAGCTC	0.602													10	13					0	0	0	0	G	49221286	C	G	49221286	3	3	197	1	0	0	0	0	1	0	0	0	5647	507	18	4	1914	4	FAM65C	20	49221286	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4382110	49221286	13804234	533	35254											
RAB22A	57403	broad.mit.edu	37	chr20	56929251	56929254	+	Frame_Shift_Del	DEL	TATT	TATT	-																															gcaaaggactacgccgactcTattcatgcaatttttgtaga																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:56929251_56929254delTATT	ENST00000244040.3	+	6	698_701	c.417_420delTATT	c.(415-420)tcfs	p.SI139fs		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	139					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			ACGCCGACTCTATTCATGCAATTT	0.402													16	27	---	---	---	---					-	56929254	TATT	-	56929251	7	5	197	1	0	1	0	1	0	0	0	0	12991	1509	53	0	439	0	RAB22A	20	56929251	Frame_Shift_Del	DEL	TATT	TCGA-CR-7370-01A-11D-2129-08	7707965	56929251	6096269	534	35255											
LAMA5	3911	broad.mit.edu	37	chr20	60887107	60887107	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacctggcatagcccatcCtggggacggcagccaggtca	9	5	13	14	1	1	0	1	0	0	0	2	2	2	1	4	5	2	2	4	5	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:60887107C>T	ENST00000252999.3	-	70	9571		c.e70-1			NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATAGCCCATCCTGGGGACGGC	0.672													21	23					0	0	0	0	T	60887107	C	T	60887107	5	4	197	1	0	0	0	0	0	0	1	0	8662	695	24	4	1627	4	LAMA5	20	60887107	Splice_Site	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3957856	60887107	2138413	535	35256											
TPTE	7179	broad.mit.edu	37	chr21	10959762	10959762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catatgaagcaacattttcaGcatcttcaacttcaaacttg	14	13	4	10	0	4	1	3	1	1	0	4	1	4	1	0	0	5	2	0	0	5	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:10959762G>T	ENST00000298232.7	-	7	525	c.158C>A	c.(157-159)gCt>gAt	p.A53D	TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.A71D	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	71					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACATTTTCAGCATCTTCAAC	0.363													9	192					2.74318e-10	3.39264e-10	1	0	T	10959762	G	T	10959762	3	4	197	1	0	0	0	0	1	0	0	0	16525	971	34	4	1511	4	TPTE	21	10959762	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08		10959762	37170133	536	35257											
DOPEY2	9980	broad.mit.edu	37	chr21	37586451	37586452	+	Frame_Shift_Ins	INS	-	-	T																															tatgaagaccagtcgtcttaINStttttttgaaaaatactcca																								rs147590869	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:37586451_37586452insT	ENST00000399151.3	+	8	1062_1063	c.977_978insT	c.(976-978)tttfs	p.F326fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	326					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGTCGTCTTATTTTTTTGAAA	0.396													13	99	---	---	---	---					T	37586452	-	T	37586451	7	5	197	1	0	1	1	0	0	0	0	0	4744	449	16	0	1003	0	DOPEY2	21	37586451	Frame_Shift_Ins	INS	-	TCGA-CR-7370-01A-11D-2129-08	26626689	37586451	10543444	537	35258											
DSCAM	1826	broad.mit.edu	37	chr21	41539196	41539196	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggctccaggtgaacttcCtgaggtggaccatcaggagc	10	8	13	10	0	1	2	1	2	0	0	3	4	3	4	3	5	2	1	3	5	2	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:41539196C>A	ENST00000400454.1	-	16	3444	c.2967G>T	c.(2965-2967)caG>caT	p.Q989H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	989	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTGAACTTCCTGAGGTGGAC	0.532													18	42					7.45023e-12	9.59538e-12	1	0	A	41539196	C	A	41539196	3	1	197	1	0	0	0	0	1	0	0	0	4804	680	24	4	3143	4	DSCAM	21	41539196	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	3952745	41539196	6590699	538	35259											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047615	46047615	+	Frame_Shift_Del	DEL	C	C	-																															gccagcttgctgcacttcctCcccctgccagcagtcctact																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:46047615delC	ENST00000397911.3	+	1	576	c.527delC	c.(526-528)tcfs	p.S176fs	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	176	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TGCACTTCCTCCCCCTGCCAG	0.587													97	251	---	---	---	---					-	46047615	C	-	46047615	7	5	197	1	0	1	0	1	0	0	0	0	8568	855	30	0	529	0	KRTAP10-9	21	46047615	Frame_Shift_Del	DEL	C	TCGA-CR-7370-01A-11D-2129-08	4508419	46047615	2082280	539	35260											
PTTG1IP	754	broad.mit.edu	37	chr21	46271460	46271460	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgcggagcgtgcaccTcacaggaagcgtcgggactg	7	6	17	11	4	1	0	1	0	0	0	2	3	1	3	1	4	4	2	1	4	1	0	rs2236442	by1000genomes	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:46271460T>C	ENST00000445724.2	-	3	325	c.251A>G	c.(250-252)gAg>gGg	p.E84G	PTTG1IP_ENST00000330938.3_3'UTR|PTTG1IP_ENST00000397887.3_3'UTR|PTTG1IP_ENST00000397886.3_3'UTR			P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	0	PSI.				protein import into nucleus	cytoplasm|integral to membrane|nucleus		p.E84G(1)		ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		AGCGTGCACCTCACAGGAAGC	0.557													4	56					0	0	0	0	C	46271460	T	C	46271460	3	2	197	1	0	0	0	0	1	0	0	0	12902	1566	54	5		5	PTTG1IP	21	46271460	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	223845	46271460	1858435	540	35261											
COL6A2	1292	broad.mit.edu	37	chr21	47545908	47545908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaagacacgtgtgtttGcggtggtcatcacggacggg	8	8	16	9	4	2	2	2	0	0	2	2	3	2	3	1	4	1	1	1	4	1	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:47545908G>T	ENST00000300527.4	+	26	2283	c.2179G>T	c.(2179-2181)Gcg>Tcg	p.A727S	COL6A2_ENST00000357838.4_Missense_Mutation_p.A727S|COL6A2_ENST00000409416.1_Missense_Mutation_p.A727S|COL6A2_ENST00000397763.1_Missense_Mutation_p.A727S|COL6A2_ENST00000310645.5_Missense_Mutation_p.A727S	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	727	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACGTGTGTTTGCGGTGGTCAT	0.657													12	31					3.03607e-14	4.07172e-14	1	0	T	47545908	G	T	47545908	3	4	197	1	0	0	0	0	1	0	0	0	3730	1319	46	4	2277	4	COL6A2	21	47545908	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1274448	47545908	583987	541	35262											
MICAL3	57553	broad.mit.edu	37	chr22	18300912	18300912	+	Frame_Shift_Del	DEL	G	G	-																															gacttccgcacctcctctctGgggggctgagcaggctcccg																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:18300912delG	ENST00000441493.2	-	26	4867	c.4515delC	c.(4513-4515)ccfs	p.P1505fs		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1505	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCTCCTCTCTGGGGGGCTGAG	0.652													10	10	---	---	---	---					-	18300912	G	-	18300912	7	5	197	1	0	1	0	1	0	0	0	0	9640	1335	47	0	1521	0	MICAL3	22	18300912	Frame_Shift_Del	DEL	G	TCGA-CR-7370-01A-11D-2129-08		18300912	33003654	542	35263											
ZNF74	7625	broad.mit.edu	37	chr22	20760750	20760750	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccttcaagtgcaacgAgtgcggcaaagccttcagct	11	7	11	12	2	2	0	2	0	0	0	2	2	2	0	2	1	6	3	2	1	4	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:20760750A>C	ENST00000400451.2	+	5	1941	c.1427A>C	c.(1426-1428)gAg>gCg	p.E476A	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.E476A|ZNF74_ENST00000405993.1_Missense_Mutation_p.E444A	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	476					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AAGTGCAACGAGTGCGGCAAA	0.642													25	53					0	0	0	0	C	20760750	A	C	20760750	3	2	197	1	0	0	0	0	1	0	0	0	18221	304	11	5	1445	5	ZNF74	22	20760750	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	2459838	20760750	30543816	543	35264											
TRIOBP	11078	broad.mit.edu	37	chr22	38121264	38121264	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcatctccccatcgtactAacaaagacatcccctgggcc	11	9	5	16	1	2	1	1	0	1	1	5	1	3	1	5	1	2	1	5	1	3	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:38121264A>T	ENST00000406386.3	+	7	2956	c.2701A>T	c.(2701-2703)Aac>Tac	p.N901Y	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	901					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					CCATCGTACTAACAAAGACAT	0.547													99	156					0	0	0	0	T	38121264	A	T	38121264	3	4	197	1	0	0	0	0	1	0	0	0	16648	362	13	5	2719	5	TRIOBP	22	38121264	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	17360514	38121264	13183302	544	35265											
GCAT	23464	broad.mit.edu	37	chr22	38212669	38212669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatagcgaggaagacattGaccgctgcgtggaggccttc	9	8	14	10	3	0	2	0	1	0	1	1	5	0	4	2	3	3	2	2	3	2	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:38212669G>T	ENST00000323205.6	+	9	1345	c.1282G>T	c.(1282-1284)Gac>Tac	p.D428Y	GCAT_ENST00000248924.6_Missense_Mutation_p.D402Y	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	402					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GGAAGACATTGACCGCTGCGT	0.627													43	60					7.53189e-24	1.13663e-23	1	0	T	38212669	G	T	38212669	3	4	197	1	0	0	0	0	1	0	0	0	6333	1290	45	2	1316	2	GCAT	22	38212669	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	91405	38212669	13091897	545	35266											
NPTXR	23467	broad.mit.edu	37	chr22	39219124	39219124	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaggatcccatgaggcttGatggggtgccaggcagccag	10	7	15	9	0	0	2	0	2	0	0	1	3	1	3	3	5	2	2	3	5	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:39219124G>C	ENST00000333039.2	-	4	1365	c.1242C>G	c.(1240-1242)atC>atG	p.I414M		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	414	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CATGAGGCTTGATGGGGTGCC	0.602													28	67					0	0	0	0	C	39219124	G	C	39219124	3	2	197	1	0	0	0	0	1	0	0	0	10675	1280	45	2	268	2	NPTXR	22	39219124	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1006455	39219124	12085442	546	35267											
ENTHD1	150350	broad.mit.edu	37	chr22	40140270	40140270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggagaaaaggaagatgctCcctcagaagcagttgaaact	17	6	11	7	0	1	4	1	1	0	3	2	6	2	5	1	2	3	3	1	2	6	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:40140270C>T	ENST00000325157.6	-	7	1488	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	413										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGAAGATGCTCCCTCAGAAGC	0.363													8	41					0	0	0	0	T	40140270	C	T	40140270	3	4	197	1	0	0	0	0	1	0	0	0	5175	855	30	2	589	2	ENTHD1	22	40140270	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	921146	40140270	11164296	547	35268											
PKDREJ	10343	broad.mit.edu	37	chr22	46657867	46657867	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctatggcttttggtccttgGagcacgtggaccctcttatc	5	14	11	11	1	1	0	0	0	1	0	3	2	2	2	2	4	1	3	2	4	2	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:46657867G>C	ENST00000253255.5	-	1	1352	c.1353C>G	c.(1351-1353)ctC>ctG	p.L451L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	451	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTGGTCCTTGGAGCACGTGGA	0.408													43	40					0	0	0	0	C	46657867	G	C	46657867	2	2	197	1	0	0	0	0	0	0	0	1	12042	1161	41	2		2	PKDREJ	22	46657867	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	6517597	46657867	4646699	548	35269											
PKDREJ	10343	broad.mit.edu	37	chr22	46658330	46658330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catacactccccactgtaacGaattattggggatgtgaatg	12	11	9	9	1	0	1	0	1	0	0	1	3	1	2	2	2	2	1	2	2	5	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:46658330G>A	ENST00000253255.5	-	1	889	c.890C>T	c.(889-891)tCg>tTg	p.S297L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	297	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCACTGTAACGAATTATTGGG	0.572													125	132					0	0	0	0	A	46658330	G	A	46658330	3	1	197	1	0	0	0	0	1	0	0	0	12042	1059	37	1	5875	1	PKDREJ	22	46658330	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	463	46658330	4646236	549	35270											
TUBGCP6	85378	broad.mit.edu	37	chr22	50665439	50665439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactcacggtgggaaacgCggccctggggcctcctccac	8	5	12	16	3	1	0	1	0	0	0	3	1	3	1	4	5	2	0	4	5	2	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:50665439C>A	ENST00000439308.2	-	6	1972	c.1480G>T	c.(1480-1482)Gcg>Tcg	p.A494S	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.A494S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	494					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGGAAACGCGGCCCTGGGG	0.687													4	10					0.000602214	0.000637187	1	0	A	50665439	C	A	50665439	3	1	197	1	0	0	0	0	1	0	0	0	16866	768	27	3	4059	3	TUBGCP6	22	50665439	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	4007109	50665439	639127	550	35271											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51041671	51041671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacagcctctccctggggcGctcggagcagccgcacccca	6	4	13	18	3	1	0	0	0	1	0	3	2	1	2	5	4	3	3	5	4	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:51041671G>T	ENST00000329492.3	+	3	308	c.191G>T	c.(190-192)cGc>cTc	p.R64L	MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R64L|MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R37L|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R64L	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	64					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCCTGGGGCGCTCGGAGCAG	0.612													16	14					2.32078e-09	2.81433e-09	1	0	T	51041671	G	T	51041671	3	4	197	1	0	0	0	0	1	0	0	0	9354	1087	38	3	291	3	MAPK8IP2	22	51041671	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	376232	51041671	262895	551	35272											
MXRA5	25878	broad.mit.edu	37	chrX	3235181	3235181	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctcttggacggcagccTccagaggatgcgcggccagg	7	6	14	14	3	1	1	0	0	1	1	3	3	3	3	4	5	2	1	4	5	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:3235181T>A	ENST00000217939.6	-	6	6695	c.6541A>T	c.(6541-6543)Agg>Tgg	p.R2181W		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2181	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GACGGCAGCCTCCAGAGGATG	0.652													3	8					0	0	0	0	A	3235181	T	A	3235181	3	1	197	1	0	0	0	0	1	0	0	0	10073	1550	54	5	1953	5	MXRA5	23	3235181	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08		3235181	152035379	552	35273											
NLGN4X	57502	broad.mit.edu	37	chrX	5821198	5821198	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaaagttacaactgaaGagctcggtgggaccgatcat	13	9	12	7	2	1	2	1	1	0	1	2	5	1	4	1	3	3	2	1	3	5	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:5821198G>T	ENST00000381095.3	-	5	2148	c.1521C>A	c.(1519-1521)ctC>ctA	p.L507L	NLGN4X_ENST00000275857.6_Silent_p.L507L|NLGN4X_ENST00000381093.2_Silent_p.L527L|NLGN4X_ENST00000538097.1_Silent_p.L507L|NLGN4X_ENST00000381092.1_Silent_p.L507L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	507					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TACAACTGAAGAGCTCGGTGG	0.537													17	53					3.45872e-05	3.74987e-05	1	0	T	5821198	G	T	5821198	2	4	197	1	0	0	0	0	0	0	0	1	10534	929	33	2		2	NLGN4X	23	5821198	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2586017	5821198	149449362	553	35274											
FAM9B	171483	broad.mit.edu	37	chrX	8997416	8997416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgatgtattcttcaaGgacatttagcaacttcagag	11	14	9	7	0	4	2	2	1	2	1	4	3	4	3	0	1	2	2	0	1	4	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:8997416G>A	ENST00000362066.3	-	5	633	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F	FAM9B_ENST00000428477.1_Missense_Mutation_p.L109F|FAM9B_ENST00000327220.5_Missense_Mutation_p.L109F			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	109						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TATTCTTCAAGGACATTTAGC	0.363													4	25					0	0	0	0	A	8997416	G	A	8997416	3	1	197	1	0	0	0	0	1	0	0	0	5705	1000	35	4	247	4	FAM9B	23	8997416	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	3176218	8997416	146273144	554	35275											
SHROOM2	357	broad.mit.edu	37	chrX	9862691	9862691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgggaggctcccaggcaggGtggccggcaggcccaggccg	5	3	19	14	2	0	0	0	0	0	0	1	1	1	1	4	8	0	3	4	8	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:9862691G>T	ENST00000380913.3	+	4	833	c.743G>T	c.(742-744)gGt>gTt	p.G248V		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	248					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCAGGCAGGGTGGCCGGCAG	0.667													3	13					2.56e-06	2.88e-06	1	0	T	9862691	G	T	9862691	3	4	197	1	0	0	0	0	1	0	0	0	14382	1261	44	4	757	4	SHROOM2	23	9862691	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	865275	9862691	145407869	555	35276											
FRMPD4	9758	broad.mit.edu	37	chrX	12632926	12632926	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaggcaagctgatcccGggagatcagattgtaatgat	12	10	12	7	1	2	5	1	3	1	2	3	6	3	5	1	2	1	3	1	2	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:12632926G>A	ENST00000380682.1	+	4	854	c.348G>A	c.(346-348)ccG>ccA	p.P116P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	116	PDZ.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGCTGATCCCGGGAGATCAGA	0.517													21	73					0	0	0	0	A	12632926	G	A	12632926	2	1	197	1	0	0	0	0	0	0	0	1	6107	1103	39	1		1	FRMPD4	23	12632926	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2770235	12632926	142637634	556	35277											
TLR7	51284	broad.mit.edu	37	chrX	12905663	12905663	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgcctccaaatctaaagaAtctctctttggccaaaaatg	14	12	5	10	0	3	1	0	0	3	1	5	1	4	1	3	1	1	0	3	1	7	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:12905663A>G	ENST00000380659.3	+	3	2175	c.2036A>G	c.(2035-2037)aAt>aGt	p.N679S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	679					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AATCTAAAGAATCTCTCTTTG	0.393													40	131					0	0	0	0	G	12905663	A	G	12905663	3	3	197	1	0	0	0	0	1	0	0	0	16050	101	4	5	2042	5	TLR7	23	12905663	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	272737	12905663	142364897	557	35278											
BMX	660	broad.mit.edu	37	chrX	15543445	15543445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgttgcaagcagtaacCaaaaagaaagaaatgtgaat	21	7	9	4	0	0	4	0	1	0	3	0	4	0	4	1	0	3	4	1	0	8	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:15543445C>G	ENST00000357607.2	+	8	975	c.787C>G	c.(787-789)Caa>Gaa	p.Q263E	BMX_ENST00000348343.6_Missense_Mutation_p.Q263E|BMX_ENST00000342014.6_Missense_Mutation_p.Q263E			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	263					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)					AAGCAGTAACCAAAAAGAAAG	0.313													15	68					0	0	0	0	G	15543445	C	G	15543445	3	3	197	1	0	0	0	0	1	0	0	0	1478	595	21	4	813	4	BMX	23	15543445	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	2637782	15543445	139727115	558	35279											
CDKL5	6792	broad.mit.edu	37	chrX	18622489	18622489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctctaggagtccctcctAcaggaccaaggccaaaagcc	11	6	9	15	0	1	0	0	0	1	0	4	2	4	2	6	3	2	0	6	3	5	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:18622489A>G	ENST00000379989.3	+	13	1730	c.1445A>G	c.(1444-1446)tAc>tGc	p.Y482C	CDKL5_ENST00000379996.3_Missense_Mutation_p.Y482C|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	482					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGTCCCTCCTACAGGACCAAG	0.532													21	114					0	0	0	0	G	18622489	A	G	18622489	3	3	197	1	0	0	0	0	1	0	0	0	3186	391	14	5	1487	5	CDKL5	23	18622489	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	3079044	18622489	136648071	559	35280											
ACOT9	23597	broad.mit.edu	37	chrX	23723192	23723192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctaccacaaacggtcgaGaaccactgttgggggaaagg	12	6	13	10	2	0	1	0	0	0	1	1	3	0	2	2	4	4	2	2	4	4	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:23723192G>A	ENST00000379303.5	-	14	1153	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F	ACOT9_ENST00000336430.7_Missense_Mutation_p.S333F|ACOT9_ENST00000379295.1_Missense_Mutation_p.S273F	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	333					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AAACGGTCGAGAACCACTGTT	0.408													46	68					0	0	0	0	A	23723192	G	A	23723192	3	1	197	1	0	0	0	0	1	0	0	0	157	942	33	2	333	2	ACOT9	23	23723192	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	5100703	23723192	131547368	560	35281											
MAGEB4	4115	broad.mit.edu	37	chrX	30260834	30260834	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccagagcagtgcctggacCcttccaaggaatgggcttct	10	8	11	12	0	1	1	0	0	1	1	2	3	2	3	4	3	3	2	4	3	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:30260834C>A	ENST00000378982.2	+	1	778	c.582C>A	c.(580-582)acC>acA	p.T194T		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	194	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GTGCCTGGACCCTTCCAAGGA	0.522													16	17					0.00316338	0.00328657	1	0	A	30260834	C	A	30260834	2	1	197	1	0	0	0	0	0	0	0	1	9247	610	22	4		4	MAGEB4	23	30260834	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	6537642	30260834	125009726	561	35282											
NR0B1	190	broad.mit.edu	37	chrX	30326619	30326619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggacgcccagcagttgcGcaccagcaccagctgctggt	8	5	13	15	2	0	0	0	0	0	0	0	1	0	1	3	2	5	6	3	2	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:30326619G>T	ENST00000378970.4	-	1	1096	c.862C>A	c.(862-864)Cgc>Agc	p.R288S	NR0B1_ENST00000453287.1_Missense_Mutation_p.R288S	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	288	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CAGCAGTTGCGCACCAGCACC	0.632											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	7					2.56e-06	2.88e-06	1	0	T	30326619	G	T	30326619	3	4	197	1	0	0	0	0	1	0	0	0	10684	1087	38	3	558	3	NR0B1	23	30326619	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	65785	30326619	124943941	562	35283											
NR0B1	190	broad.mit.edu	37	chrX	30327199	30327199	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgtcgcctcgggcgccttCggtgccgcgtacgtttgctt	2	11	14	14	8	0	0	0	0	0	0	3	0	0	0	3	2	4	3	3	2	1	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:30327199C>T	ENST00000378970.4	-	1	516	c.282G>A	c.(280-282)ccG>ccA	p.P94P	NR0B1_ENST00000453287.1_Silent_p.P94P	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	94	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	p.P94P(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGGGCGCCTTCGGTGCCGCGT	0.687													16	18					0	0	0	0	T	30327199	C	T	30327199	2	4	197	1	0	0	0	0	0	0	0	1	10684	871	31	1		1	NR0B1	23	30327199	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	580	30327199	124943361	563	35284											
DMD	1756	broad.mit.edu	37	chrX	33146266	33146266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgcagcttttactcaccaGatgagacctcagacatttca	11	12	6	12	0	4	3	3	1	1	3	4	4	4	3	2	0	3	2	2	0	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:33146266G>A	ENST00000378677.2	-	1	211	c.17C>T	c.(16-18)tCt>tTt	p.S6F	DMD_ENST00000288447.4_Intron|DMD_ENST00000357033.4_Intron	NM_004009.3|NM_004010.3|NM_004011.3|NM_004012.3|NM_004014.2	NP_004000.1|NP_004001.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	0	Actin-binding.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTACTCACCAGATGAGACCTC	0.418													4	17					0	0	0	0	A	33146266	G	A	33146266	3	1	197	1	0	0	0	0	1	0	0	0	4617	942	33	2	11587	2	DMD	23	33146266	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2819067	33146266	122124294	564	35285											
CXorf38	159013	broad.mit.edu	37	chrX	40498350	40498350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacattcctcaggtccttGtttgtctgctagtcctcggg	5	15	9	12	1	3	0	2	0	1	0	7	0	6	0	3	2	1	2	3	2	1	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:40498350G>T	ENST00000378426.1	-	2	622	c.25C>A	c.(25-27)Caa>Aaa	p.Q9K	CXorf38_ENST00000378421.1_Missense_Mutation_p.Q9K|CXorf38_ENST00000327877.5_Missense_Mutation_p.Q128K|CXorf38_ENST00000440784.2_Intron			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	128										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						TCAGGTCCTTGTTTGTCTGCT	0.498													13	75					6.72482e-11	8.4286e-11	1	0	T	40498350	G	T	40498350	3	4	197	1	0	0	0	0	1	0	0	0	4139	1386	48	4	593	4	CXorf38	23	40498350	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	7352084	40498350	114772210	565	35286											
ZNF157	7712	broad.mit.edu	37	chrX	47272966	47272966	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacataggctggtcctggcgTtgtacaatgaagaaagcctc	11	9	11	10	1	0	2	0	1	0	1	2	2	1	2	2	3	2	3	2	3	5	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:47272966T>G	ENST00000377073.3	+	4	1580	c.1494T>G	c.(1492-1494)cgT>cgG	p.R498R		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	498					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGTCCTGGCGTTGTACAATGA	0.502													20	79					0	0	0	0	G	47272966	T	G	47272966	2	3	197	1	0	0	0	0	0	0	0	1	17832	1712	60	5		5	ZNF157	23	47272966	Silent	SNP	T	TCGA-CR-7370-01A-11D-2129-08	6774616	47272966	107997594	566	35287											
PORCN	64840	broad.mit.edu	37	chrX	48370283	48370283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcacctttttcctcagtgaGatgcacatggtagacaccgt	10	11	9	11	1	1	2	1	1	0	2	2	3	2	2	3	1	2	3	3	1	1	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48370283G>A	ENST00000367574.4	+	4	625	c.120G>A	c.(118-120)gaG>gaA	p.E40E	PORCN_ENST00000355961.4_Silent_p.E111E|PORCN_ENST00000537758.1_Silent_p.E111E|PORCN_ENST00000326194.6_Silent_p.E111E|PORCN_ENST00000355092.3_Silent_p.E111E|PORCN_ENST00000361988.3_Silent_p.E111E|PORCN_ENST00000359882.4_Silent_p.E111E			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	111	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCTCAGTGAGATGCACATGG	0.597											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	61					0	0	0	0	A	48370283	G	A	48370283	2	1	197	1	0	0	0	0	0	0	0	1	12330	933	33	2		2	PORCN	23	48370283	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1097317	48370283	106900277	567	35288											
HDAC6	10013	broad.mit.edu	37	chrX	48678561	48678561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggctttgatgctgcacggGgggatccgctggggggctgc	3	9	19	10	2	0	1	0	1	0	0	1	2	1	2	1	7	3	5	1	7	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48678561G>T	ENST00000334136.5	+	23	2414	c.2236G>T	c.(2236-2238)Ggg>Tgg	p.G746W	HDAC6_ENST00000444343.2_Missense_Mutation_p.G760W|HDAC6_ENST00000376619.2_Missense_Mutation_p.G746W			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	746	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGCTGCACGGGGGGATCCGCT	0.572													15	74					1.15088e-07	1.31857e-07	1	0	T	48678561	G	T	48678561	3	4	197	1	0	0	0	0	1	0	0	0	7061	1232	43	4	2322	4	HDAC6	23	48678561	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	308278	48678561	106591999	568	35289											
HDAC6	10013	broad.mit.edu	37	chrX	48681696	48681696	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgtgggaggagccattctgGaccagaccacctcagaggat	10	7	13	11	0	2	2	1	0	1	2	2	6	2	6	4	4	1	0	4	4	0	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48681696G>C	ENST00000334136.5	+	25	3065	c.2887G>C	c.(2887-2889)Gac>Cac	p.D963H	HDAC6_ENST00000444343.2_Missense_Mutation_p.D977H|HDAC6_ENST00000376619.2_Missense_Mutation_p.D963H			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	963					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGCCATTCTGGACCAGACCAC	0.647													3	14					0	0	0	0	C	48681696	G	C	48681696	3	2	197	1	0	0	0	0	1	0	0	0	7061	1174	41	2	2981	2	HDAC6	23	48681696	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	3135	48681696	106588864	569	35290											
SLC35A2	7355	broad.mit.edu	37	chrX	48762559	48762559	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagccggaggagagacaGgaggccacgacggctgccag	11	1	18	11	4	0	1	0	0	0	1	0	7	0	4	3	5	2	1	3	5	1	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48762559G>A	ENST00000376521.1	-	4	948	c.627C>T	c.(625-627)tcC>tcT	p.S209S	SLC35A2_ENST00000452555.2_Silent_p.S237S|SLC35A2_ENST00000247138.5_Silent_p.S209S|SLC35A2_ENST00000413561.2_Silent_p.S148S|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000376515.3_Intron	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	209					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						AGGAGAGACAGGAGGCCACGA	0.647													9	7					0	0	0	0	A	48762559	G	A	48762559	2	1	197	1	0	0	0	0	0	0	0	1	14659	987	35	4		4	SLC35A2	23	48762559	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	80863	48762559	106508001	570	35291											
GPKOW	27238	broad.mit.edu	37	chrX	48979050	48979050	+	Silent	SNP	G	G	T																															tgtggatggcccagggggccGggctggtggctgcctgcgat																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48979050G>T	ENST00000156109.5	-	2	331	c.253C>A	c.(253-255)Cgg>Agg	p.R85R		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	85						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CCAGGGGGCCGGGCTGGTGGC	0.627													12	23					1.08611e-07	1.24819e-07	1	0	T	48979050	G	T	48979050	2	4	197	1	0	0	0	0	0	0	0	1	6662	1115	39	3		3	GPKOW	23	48979050	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	216491	48979050	106291510	571	35292	271	2									
GPKOW	27238	broad.mit.edu	37	chrX	48979051	48979051	+	Silent	SNP	G	G	T																															gtggatggcccagggggccgGgctggtggctgcctgcgatg																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48979051G>T	ENST00000156109.5	-	2	330	c.252C>A	c.(250-252)gcC>gcA	p.A84A		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	84						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CAGGGGGCCGGGCTGGTGGCT	0.632													12	23					1.08611e-07	1.24819e-07	1	0	T	48979051	G	T	48979051	2	4	197	1	0	0	0	0	0	0	0	1	6662	1219	43	4		4	GPKOW	23	48979051	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1	48979051	106291509	572	35293	271	2									
CCDC22	28952	broad.mit.edu	37	chrX	49099871	49099871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctctgccagcagacgggCcgggaccggccaggggatga	8	3	17	13	3	1	2	0	1	1	1	1	4	1	4	4	5	3	2	4	5	0	0			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:49099871C>T	ENST00000376227.3	+	6	827	c.657C>T	c.(655-657)ggC>ggT	p.G219G	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	219										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						AGCAGACGGGCCGGGACCGGC	0.682													7	13					0	0	0	0	T	49099871	C	T	49099871	2	4	197	1	0	0	0	0	0	0	0	1	2823	726	26	4		4	CCDC22	23	49099871	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	120820	49099871	106170689	573	35294											
FOXP3	50943	broad.mit.edu	37	chrX	49108103	49108103	+	Missense_Mutation	SNP	C	C	T																															acttgaggccatcccagtcaCcgccacctcagaggagctca																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:49108103C>T	ENST00000557224.1	-	9	1062	c.1063G>A	c.(1063-1065)Gtg>Atg	p.V355M	FOXP3_ENST00000518685.1_Intron|FOXP3_ENST00000376197.1_Missense_Mutation_p.V340M|FOXP3_ENST00000376199.2_Intron|FOXP3_ENST00000455775.2_Intron|FOXP3_ENST00000376207.4_Intron			Q9BZS1	FOXP3_HUMAN	forkhead box P3	390					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					ATCCCAGTCACCGCCACCTCA	0.577													9	18					0	0	0	0	T	49108103	C	T	49108103	3	4	197	1	0	0	0	0	1	0	0	0	6075	522	18	4		4	FOXP3	23	49108103	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	8232	49108103	106162457	574	35295	272	2									
FOXP3	50943	broad.mit.edu	37	chrX	49108105	49108105	+	Missense_Mutation	SNP	G	G	A																															ttgaggccatcccagtcaccGccacctcagaggagctcacc																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:49108105G>A	ENST00000557224.1	-	9	1060	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	FOXP3_ENST00000518685.1_Intron|FOXP3_ENST00000376197.1_Missense_Mutation_p.A339V|FOXP3_ENST00000376199.2_Intron|FOXP3_ENST00000455775.2_Intron|FOXP3_ENST00000376207.4_Intron			Q9BZS1	FOXP3_HUMAN	forkhead box P3	389					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CCCAGTCACCGCCACCTCAGA	0.572													9	18					0	0	0	0	A	49108105	G	A	49108105	3	1	197	1	0	0	0	0	1	0	0	0	6075	1102	38	1		1	FOXP3	23	49108105	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	2	49108105	106162455	575	35296	272	2									
GAGE10	643832	broad.mit.edu	37	chrX	49173663	49173663	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaagcctgaagctgataGccaggaacaggttcacccaa	13	5	11	12	1	1	2	1	2	0	0	1	4	1	3	4	2	4	2	4	2	5	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:49173663G>C	ENST00000407599.3	+	4	317	c.224G>C	c.(223-225)aGc>aCc	p.S75T		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	75								p.S75I(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					GAAGCTGATAGCCAGGAACAG	0.423													68	152					0	0	0	0	C	49173663	G	C	49173663	3	2	197	1	0	0	0	0	1	0	0	0	6235	971	34	4	234	4	GAGE10	23	49173663	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	65558	49173663	106096897	576	35297											
AKAP4	8852	broad.mit.edu	37	chrX	49958928	49958928	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggatgctctgtgatattCgccctctgtgtctcctactt	6	15	9	11	1	3	2	0	1	3	1	5	3	3	3	2	1	2	1	2	1	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:49958928C>A	ENST00000376056.2	-	5	559	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Nonsense_Mutation_p.E146*|AKAP4_ENST00000376064.3_Nonsense_Mutation_p.E137*|AKAP4_ENST00000376058.2_Nonsense_Mutation_p.E137*			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	146					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTGTGATATTCGCCCTCTGTG	0.448													55	46					5.39261e-20	7.7766e-20	1	0	A	49958928	C	A	49958928	4	1	197	1	0	0	0	0	0	1	0	0	453	893	31	3	2136	3	AKAP4	23	49958928	Nonsense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	785265	49958928	105311632	577	35298											
IQSEC2	23096	broad.mit.edu	37	chrX	53276218	53276218	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgctgggactgtacatGtcggtattgaggaggatgat	9	12	15	5	2	0	3	0	3	0	0	1	6	0	6	0	4	1	3	0	4	2	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:53276218G>A	ENST00000396435.3	-	8	2882	c.2682C>T	c.(2680-2682)gaC>gaT	p.D894D	IQSEC2_ENST00000375368.5_Silent_p.D884D|IQSEC2_ENST00000375365.2_Silent_p.D689D	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	884	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GACTGTACATGTCGGTATTGA	0.517													9	46					0	0	0	0	A	53276218	G	A	53276218	2	1	197	1	0	0	0	0	0	0	0	1	7871	1368	48	4		4	IQSEC2	23	53276218	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	3317290	53276218	101994342	578	35299											
RIBC1	158787	broad.mit.edu	37	chrX	53455483	53455483	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagacctagacagggacaCacggctgagaatgcagcagg	14	3	15	9	1	0	3	0	1	0	3	0	6	0	5	1	4	2	3	1	4	3	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:53455483C>G	ENST00000457095.1	+	5	656	c.452C>G	c.(451-453)aCa>aGa	p.T151R	RIBC1_ENST00000490702.1_3'UTR|RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Missense_Mutation_p.T151R	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	151										lung(2)	2						GACAGGGACACACGGCTGAGA	0.507													14	18					0	0	0	0	G	53455483	C	G	53455483	3	3	197	1	0	0	0	0	1	0	0	0	13435	478	17	4	462	4	RIBC1	23	53455483	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	179265	53455483	101815077	579	35300											
HUWE1	10075	broad.mit.edu	37	chrX	53658553	53658553	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtgaatataatgtagtGtgttactagttgtctaaaat	13	17	8	3	0	1	1	0	1	1	0	1	1	1	1	0	0	1	3	0	0	9	8			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:53658553G>C	ENST00000342160.3	-	9	1116	c.659C>G	c.(658-660)aCa>aGa	p.T220R	HUWE1_ENST00000262854.6_Missense_Mutation_p.T220R|HUWE1_ENST00000218328.8_Missense_Mutation_p.T220R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	220					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATAATGTAGTGTGTTACTAGT	0.378													18	63					0	0	0	0	C	53658553	G	C	53658553	3	2	197	1	0	0	0	0	1	0	0	0	7514	1377	48	4	12765	4	HUWE1	23	53658553	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	203070	53658553	101612007	580	35301											
MSN	4478	broad.mit.edu	37	chrX	64957172	64957172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgctgcaggcctcccGggaccagaaaaagactcagg	10	5	13	13	1	1	2	1	0	0	2	2	3	2	3	4	4	2	2	4	4	2	1			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:64957172G>T	ENST00000360270.5	+	10	1395	c.1223G>T	c.(1222-1224)cGg>cTg	p.R408L	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	408					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CAGGCCTCCCGGGACCAGAAA	0.542			T	ALK	ALCL								5	13					1.23904e-05	1.36112e-05	1	0	T	64957172	G	T	64957172	3	4	197	1	0	0	0	0	1	0	0	0	9955	1116	39	3	1261	3	MSN	23	64957172	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	11298619	64957172	90313388	581	35302											
ATRX	546	broad.mit.edu	37	chrX	76939151	76939151	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaacttccatagcagtctCaagattctcaaaaatgtctt	13	13	5	10	0	3	2	2	1	3	1	6	2	4	2	1	0	2	1	1	0	5	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:76939151C>G	ENST00000373344.5	-	9	1811	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E495Q	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	533					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATAGCAGTCTCAAGATTCTCA	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						159	124					0	0	0	0	G	76939151	C	G	76939151	3	3	197	1	0	0	0	0	1	0	0	0	1212	835	29	2	5989	2	ATRX	23	76939151	Missense_Mutation	SNP	C	TCGA-CR-7370-01A-11D-2129-08	11981979	76939151	78331409	582	35303											
KLHL4	56062	broad.mit.edu	37	chrX	86890748	86890754	+	Frame_Shift_Del	DEL	GCTCCAG	GCTCCAG	-																															tgcccctgcttccaaccattGctccaggctttctgactgtg																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:86890748_86890754delGCTCCAG	ENST00000373119.4	+	9	2043_2049	c.1898_1904delGCTCCAG	c.(1897-1905)tgfs	p.CSR633fs	KLHL4_ENST00000373114.4_Frame_Shift_Del_p.CSR633fs	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	633						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TCCAACCATTGCTCCAGGCTTTCTGAC	0.382													11	22	---	---	---	---					-	86890754	GCTCCAG	-	86890748	7	5	197	1	0	1	0	1	0	0	0	0	8443	1319	46	0	1932	0	KLHL4	23	86890748	Frame_Shift_Del	DEL	GCTCCAG	TCGA-CR-7370-01A-11D-2129-08	9951597	86890748	68379812	583	35304											
KLHL4	56062	broad.mit.edu	37	chrX	86919890	86919890	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgacggacatacttatttGaacacagttgagtcatatga	14	13	8	6	1	1	4	1	4	0	0	1	5	1	5	0	1	2	1	0	1	5	6			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:86919890G>A	ENST00000373119.4	+	10	2197	c.2052G>A	c.(2050-2052)ttG>ttA	p.L684L	KLHL4_ENST00000373114.4_Silent_p.L684L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	684						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATACTTATTTGAACACAGTTG	0.383													23	18					0	0	0	0	A	86919890	G	A	86919890	2	1	197	1	0	0	0	0	0	0	0	1	8443	1281	45	2		2	KLHL4	23	86919890	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	29142	86919890	68350670	584	35305											
PCDH11X	27328	broad.mit.edu	37	chrX	91133291	91133291	+	Missense_Mutation	SNP	G	G	T																															tccaactgttcttatgaattGgttctaccgtccactaatcc																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:91133291G>T	ENST00000373094.1	+	2	2897	c.2052G>T	c.(2050-2052)ttG>ttT	p.L684F	PCDH11X_ENST00000504220.1_Missense_Mutation_p.L684F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L684F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.L684F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L684F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.L684F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L684F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L684F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L684F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	684	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTATGAATTGGTTCTACCGT	0.423													73	53					8.87156e-34	1.39517e-33	1	0	T	91133291	G	T	91133291	3	4	197	1	0	0	0	0	1	0	0	0	11579	1339	47	4	2058	4	PCDH11X	23	91133291	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	4213401	91133291	64137269	585	35306	273	2									
PCDH11X	27328	broad.mit.edu	37	chrX	91133292	91133292	+	Missense_Mutation	SNP	G	G	T																															ccaactgttcttatgaattgGttctaccgtccactaatcca																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:91133292G>T	ENST00000373094.1	+	2	2898	c.2053G>T	c.(2053-2055)Gtt>Ttt	p.V685F	PCDH11X_ENST00000504220.1_Missense_Mutation_p.V685F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V685F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V685F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V685F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V685F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V685F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V685F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V685F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	685	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.V685L(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTATGAATTGGTTCTACCGTC	0.428													73	54					8.87156e-34	1.39517e-33	1	0	T	91133292	G	T	91133292	3	4	197	1	0	0	0	0	1	0	0	0	11579	1261	44	4	2059	4	PCDH11X	23	91133292	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	1	91133292	64137268	586	35307	273	2									
TEX13A	56157	broad.mit.edu	37	chrX	104463830	104463830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgatggtctattctgtggGgccccccatcagaccacagg	7	9	11	14	0	3	2	1	1	2	1	3	2	3	2	5	4	0	0	5	4	1	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:104463830G>T	ENST00000372578.3	-	3	1159	c.1048C>A	c.(1048-1050)Ccc>Acc	p.P350T	TEX13A_ENST00000413579.1_Missense_Mutation_p.P349H|TEX13A_ENST00000372575.1_Missense_Mutation_p.P350T|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TATTCTGTGGGGCCCCCCATC	0.567													46	26					5.34276e-22	7.90305e-22	1	0	T	104463830	G	T	104463830	3	4	197	1	0	0	0	0	1	0	0	0	15870	1232	43	4	187	4	TEX13A	23	104463830	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	13330538	104463830	50806730	587	35308											
DCX	1641	broad.mit.edu	37	chrX	110653517	110653517	+	Frame_Shift_Del	DEL	A	A	-																															gcaaggttctggttcggtagAagctacagtgggcgctgtga																										TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:110653517delA	ENST00000338081.3	-	2	524	c.353delT	c.(352-354)tcfs	p.F118fs	DCX_ENST00000356915.2_Frame_Shift_Del_p.F37fs|DCX_ENST00000371993.2_Frame_Shift_Del_p.F37fs|DCX_ENST00000488120.1_Frame_Shift_Del_p.F37fs|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Frame_Shift_Del_p.F37fs	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	118					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGTTCGGTAGAAGCTACAGTG	0.512													55	47	---	---	---	---					-	110653517	A	-	110653517	7	5	197	1	0	1	0	1	0	0	0	0	4350	246	9	0	1011	0	DCX	23	110653517	Frame_Shift_Del	DEL	A	TCGA-CR-7370-01A-11D-2129-08	6189687	110653517	44617043	588	35309											
DCX	1641	broad.mit.edu	37	chrX	110654066	110654066	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacacatgcccacatgactaAcagttgtaaatgaatccata	16	9	5	11	0	0	2	0	2	0	0	1	2	1	2	2	0	2	2	2	0	5	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:110654066A>G	ENST00000338081.3	-	1	308	c.137T>C	c.(136-138)gTt>gCt	p.V46A	DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000488120.1_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	46					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CACATGACTAACAGTTGTAAA	0.428													107	64					0	0	0	0	G	110654066	A	G	110654066	3	3	197	1	0	0	0	0	1	0	0	0	4350	43	2	5	1231	5	DCX	23	110654066	Missense_Mutation	SNP	A	TCGA-CR-7370-01A-11D-2129-08	549	110654066	44616494	589	35310											
TRPC5	7224	broad.mit.edu	37	chrX	111090412	111090412	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggctcatcgatagctctggTttcataatagaagtaaagct	13	12	9	7	1	3	1	2	0	1	1	4	2	3	1	0	2	2	5	0	2	6	5			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:111090412T>A	ENST00000262839.2	-	6	2548	c.1630A>T	c.(1630-1632)Acc>Tcc	p.T544S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	544					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATAGCTCTGGTTTCATAATAG	0.433													54	36					0	0	0	0	A	111090412	T	A	111090412	3	1	197	1	0	0	0	0	1	0	0	0	16677	1725	60	5	1315	5	TRPC5	23	111090412	Missense_Mutation	SNP	T	TCGA-CR-7370-01A-11D-2129-08	436346	111090412	44180148	590	35311											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220339	130220339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcaggttgctaagcgcGtgtggaagtccagcccggaa	10	6	16	9	3	0	1	0	0	0	1	1	3	1	3	2	4	3	3	2	4	3	2			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:130220339G>T	ENST00000276211.5	+	10	1663	c.1318G>T	c.(1318-1320)Gtg>Ttg	p.V440L	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.V304L|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.V428L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	440					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGCTAAGCGCGTGTGGAAGTC	0.453													27	27					2.08457e-15	2.83638e-15	1	0	T	130220339	G	T	130220339	3	4	197	1	0	0	0	0	1	0	0	0	885	1145	40	3	1352	3	ARHGAP36	23	130220339	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	19129927	130220339	25050221	591	35312											
GPR112	139378	broad.mit.edu	37	chrX	135429618	135429618	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagttggtgactagcacCtctgtcttatcttccgacaa	9	13	7	12	1	3	1	0	1	3	0	5	2	5	1	3	1	1	2	3	1	3	4			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:135429618C>A	ENST00000394143.1	+	6	4044	c.3753C>A	c.(3751-3753)acC>acA	p.T1251T	GPR112_ENST00000412101.1_Silent_p.T1046T|GPR112_ENST00000394141.1_Silent_p.T1046T|GPR112_ENST00000370652.1_Silent_p.T1251T|GPR112_ENST00000287534.4_Silent_p.T1188T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1251					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGACTAGCACCTCTGTCTTAT	0.433													16	123					0.00498961	0.00514102	1	0	A	135429618	C	A	135429618	2	1	197	1	0	0	0	0	0	0	0	1	6678	668	24	4		4	GPR112	23	135429618	Silent	SNP	C	TCGA-CR-7370-01A-11D-2129-08	5209279	135429618	19840942	592	35313											
GPR112	139378	broad.mit.edu	37	chrX	135431250	135431250	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattgcttttcttctaatacTagaaagatgacttccttgtt	11	18	5	7	0	2	3	0	1	2	2	3	3	3	3	1	0	2	2	1	0	5	10			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:135431250T>G	ENST00000394143.1	+	6	5676	c.5385T>G	c.(5383-5385)acT>acG	p.T1795T	GPR112_ENST00000412101.1_Silent_p.T1590T|GPR112_ENST00000394141.1_Silent_p.T1590T|GPR112_ENST00000370652.1_Silent_p.T1795T|GPR112_ENST00000287534.4_Silent_p.T1732T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1795					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTCTAATACTAGAAAGATGA	0.398													31	111					0	0	0	0	G	135431250	T	G	135431250	2	3	197	1	0	0	0	0	0	0	0	1	6678	1509	53	5		5	GPR112	23	135431250	Silent	SNP	T	TCGA-CR-7370-01A-11D-2129-08	1632	135431250	19839310	593	35314											
BRS3	680	broad.mit.edu	37	chrX	135574475	135574475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggagcatacagatgtctGaaattagtgtgacctcgttc	10	12	11	8	1	1	3	0	2	1	1	3	4	1	4	1	1	2	2	1	1	3	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:135574475G>A	ENST00000370648.3	+	3	1369	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	381					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACAGATGTCTGAAATTAGTGT	0.542													13	77					0	0	0	0	A	135574475	G	A	135574475	3	1	197	1	0	0	0	0	1	0	0	0	1530	1291	45	2	1151	2	BRS3	23	135574475	Missense_Mutation	SNP	G	TCGA-CR-7370-01A-11D-2129-08	143225	135574475	19696085	594	35315											
RAB39B	116442	broad.mit.edu	37	chrX	154493403	154493403	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagatctggagcttgatGcgttttcctggctcgatctc	5	14	10	12	2	2	2	0	1	2	1	6	4	4	3	2	2	2	3	2	2	0	3			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:154493403G>C	ENST00000369454.3	-	1	471	c.171C>G	c.(169-171)cgC>cgG	p.R57R		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	57				R -> T (in Ref. 1; AAL12244).	protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGAGCTTGATGCGTTTTCCTG	0.622													34	24					0	0	0	0	C	154493403	G	C	154493403	2	2	197	1	0	0	0	0	0	0	0	1	13012	1306	46	4		4	RAB39B	23	154493403	Silent	SNP	G	TCGA-CR-7370-01A-11D-2129-08	18918928	154493403	777157	595	35316											
HSPG2	3339	broad.mit.edu	37	chr1	22157584	22157584	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatggcactgaccgccattCtgcaaagcagcccccagaag	11	6	9	15	1	2	2	1	1	1	1	2	2	2	2	4	1	3	3	4	1	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:22157584C>G	ENST00000374695.3	-	85	11642		c.e85-1			NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.?(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GACCGCCATTCTGCAAAGCAG	0.637													3	18					0	0	0	0	G	22157584	C	G	22157584	5	3	198	1	0	0	0	0	0	0	1	0	7483	927	32	2	1665	2	HSPG2	1	22157584	Splice_Site	SNP	C	TCGA-CR-7371-01A-11D-2012-08		22157584	227093037	1	35317											
FNDC5	252995	broad.mit.edu	37	chr1	33330273	33330273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccctcaccttgctgcGgagaagccccccgccctggt	4	9	10	18	2	2	1	1	0	1	1	2	2	2	1	6	2	4	1	6	2	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:33330273G>T	ENST00000373471.3	-	5	691	c.400C>A	c.(400-402)Cgc>Agc	p.R134S	FNDC5_ENST00000481487.1_5'UTR	NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	193						integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCTTGCTGCGGAGAAGCCCC	0.577													11	38					3.07112e-06	6.48065e-06	1	0	T	33330273	G	T	33330273	3	4	198	1	0	0	0	0	1	0	0	0	6017	1116	39	3	94	3	FNDC5	1	33330273	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	11172689	33330273	215920348	2	35318											
CSMD2	114784	broad.mit.edu	37	chr1	34092182	34092182	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagggcagtgattctcCtgccgagataaggggcaagg	10	6	16	9	1	1	2	0	1	1	1	2	3	1	2	3	5	1	2	3	5	3	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:34092182C>T	ENST00000373381.4	-	33	5377		c.e33-1		CSMD2_ENST00000373388.2_Splice_Site|CSMD2_ENST00000373380.1_Splice_Site|CSMD2_ENST00000373377.1_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTGATTCTCCTGCCGAGATA	0.557													5	11					0	0	0	0	T	34092182	C	T	34092182	5	4	198	1	0	0	0	0	0	0	1	0	3977	695	24	4	5531	4	CSMD2	1	34092182	Splice_Site	SNP	C	TCGA-CR-7371-01A-11D-2012-08	761909	34092182	215158439	3	35319											
ZMYM1	79830	broad.mit.edu	37	chr1	35580175	35580175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctttaaaacaatctgggatgGaacagaggaaatatgtcaaa	18	9	9	5	0	2	1	1	0	1	1	2	4	2	4	0	3	2	0	0	3	7	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:35580175G>C	ENST00000373330.1	+	11	2918	c.2744G>C	c.(2743-2745)gGa>gCa	p.G915A	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.G915A			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	915						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATCTGGGATGGAACAGAGGAA	0.294													4	19					0	0	0	0	C	35580175	G	C	35580175	3	2	198	1	0	0	0	0	1	0	0	0	17794	1174	41	2	2778	2	ZMYM1	1	35580175	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1487993	35580175	213670446	4	35320											
ZSWIM5	57643	broad.mit.edu	37	chr1	45516821	45516821	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatagtttccatcctccaGgggacagacatccaggtcgc	9	9	9	14	1	0	1	0	0	0	1	6	2	5	2	5	3	0	1	5	3	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:45516821G>C	ENST00000359600.5	-	5	1562	c.1357C>G	c.(1357-1359)Ctg>Gtg	p.L453V		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	453							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CCATCCTCCAGGGGACAGACA	0.517													35	56					0	0	0	0	C	45516821	G	C	45516821	3	2	198	1	0	0	0	0	1	0	0	0	18335	991	35	4	2240	4	ZSWIM5	1	45516821	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	9936646	45516821	203733800	5	35321											
ACOT11	26027	broad.mit.edu	37	chr1	55059688	55059688	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaaggccttggccaccttCgtggcccgccgagagatcac	7	7	12	15	3	1	1	1	0	0	1	2	3	1	1	5	3	1	1	5	3	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:55059688C>T	ENST00000371316.3	+	5	529	c.447C>T	c.(445-447)ttC>ttT	p.F149F	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.F149F	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	149	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TGGCCACCTTCGTGGCCCGCC	0.632													8	49					0	0	0	0	T	55059688	C	T	55059688	2	4	198	1	0	0	0	0	0	0	0	1	149	883	31	1		1	ACOT11	1	55059688	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	9542867	55059688	194190933	6	35322											
DPYD	1806	broad.mit.edu	37	chr1	98015229	98015229	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatacccatgcttcactagTttgcatagtttctggatcta	11	15	6	9	0	3	0	1	0	2	0	3	1	3	1	1	1	3	4	1	1	5	7			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:98015229T>A	ENST00000370192.3	-	12	1511	c.1411A>T	c.(1411-1413)Act>Tct	p.T471S		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	471					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCTTCACTAGTTTGCATAGTT	0.403													10	21					0	0	0	0	A	98015229	T	A	98015229	3	1	198	1	0	0	0	0	1	0	0	0	4781	1725	60	5	1714	5	DPYD	1	98015229	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	42955541	98015229	151235392	7	35323											
SYPL2	284612	broad.mit.edu	37	chr1	110020605	110020605	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgccggggccacgcccTctatgggcctggccaacatc	6	6	13	16	2	1	0	0	0	1	0	2	0	1	0	5	4	2	1	5	4	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:110020605T>A	ENST00000369872.3	+	5	838	c.622T>A	c.(622-624)Tct>Act	p.S208T	SYPL2_ENST00000401021.3_Intron	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	208	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGCCACGCCCTCTATGGGCCT	0.637													9	29					0	0	0	0	A	110020605	T	A	110020605	3	1	198	1	0	0	0	0	1	0	0	0	15554	1551	54	5	640	5	SYPL2	1	110020605	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	12005376	110020605	139230016	8	35324											
TRIM45	80263	broad.mit.edu	37	chr1	117656090	117656090	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggtgctttctcctcaccatCacagtgaatggcgagccctg	7	10	10	14	2	3	1	2	1	1	0	4	2	3	1	3	2	2	1	3	2	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:117656090C>G	ENST00000256649.4	-	5	2011	c.1485G>C	c.(1483-1485)gtG>gtC	p.V495V	TRIM45_ENST00000369464.3_Silent_p.V477V|TRIM45_ENST00000369461.3_Silent_p.V438V	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	495						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TCCTCACCATCACAGTGAATG	0.552													8	14					0	0	0	0	G	117656090	C	G	117656090	2	3	198	1	0	0	0	0	0	0	0	1	16615	813	29	2		2	TRIM45	1	117656090	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	7635485	117656090	131594531	9	35325											
FLG	2312	broad.mit.edu	37	chr1	152279054	152279054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgcctggagctgtcttgtgCctgctcatggcgggatcctt	3	13	14	11	1	2	0	1	0	1	0	3	2	3	2	3	3	4	2	3	3	0	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:152279054C>T	ENST00000368799.1	-	3	8343	c.8308G>A	c.(8308-8310)Gca>Aca	p.A2770T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2770	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCTTGTGCCTGCTCATGG	0.587									Ichthyosis				25	833					0	0	0	0	T	152279054	C	T	152279054	3	4	198	1	0	0	0	0	1	0	0	0	5967	739	26	4	3881	4	FLG	1	152279054	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	34622964	152279054	96971567	10	35326											
FLG	2312	broad.mit.edu	37	chr1	152283044	152283044	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctggtagaggaaagAccttgaacgtccagagcttt	11	9	11	10	1	1	4	1	1	0	3	2	5	2	5	3	2	2	3	3	2	3	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:152283044A>G	ENST00000368799.1	-	3	4353	c.4318T>C	c.(4318-4320)Tct>Cct	p.S1440P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1440	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGGAAAGACCTTGAACGT	0.587									Ichthyosis				15	273					0	0	0	0	G	152283044	A	G	152283044	3	3	198	1	0	0	0	0	1	0	0	0	5967	275	10	5	7871	5	FLG	1	152283044	Missense_Mutation	SNP	A	TCGA-CR-7371-01A-11D-2012-08	3990	152283044	96967577	11	35327											
CLK2	1196	broad.mit.edu	37	chr1	155240769	155240769	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccttcgaggatgcggcatCtggaaggcaagggaaagcgg	11	6	16	8	3	1	0	0	0	1	0	2	4	1	3	1	6	3	2	1	6	4	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:155240769C>G	ENST00000368361.4	-	2	316		c.e2-1		CLK2_ENST00000536801.1_Splice_Site|CLK2_ENST00000355560.4_Splice_Site|CLK2_ENST00000361168.5_Splice_Site			P49760	CLK2_HUMAN	CDC-like kinase 2							nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGCGGCATCTGGAAGGCAA	0.527								Other conserved DNA damage response genes					16	144					0	0	0	0	G	155240769	C	G	155240769	5	3	198	1	0	0	0	0	0	0	1	0	3567	927	32	2	1544	2	CLK2	1	155240769	Splice_Site	SNP	C	TCGA-CR-7371-01A-11D-2012-08	2957725	155240769	94009852	12	35328											
BCAN	63827	broad.mit.edu	37	chr1	156621474	156621474	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagaggcccctaggacGctcctaggtaagtcggatcc	9	6	12	14	2	0	1	0	0	0	1	3	3	2	3	5	4	1	3	5	4	3	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:156621474G>A	ENST00000329117.4	+	7	1626	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.T430T	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	430	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCTAGGACGCTCCTAGGTA	0.557													16	80					0	0	0	0	A	156621474	G	A	156621474	2	1	198	1	0	0	0	0	0	0	0	1	1349	1074	38	1		1	BCAN	1	156621474	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1380705	156621474	92629147	13	35329											
NTRK1	4914	broad.mit.edu	37	chr1	156849868	156849868	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtaagttcaccaccgagagCgacgtgtggagcttcggcgt	8	8	14	11	6	1	1	1	0	0	1	2	4	1	2	2	2	2	3	2	2	1	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:156849868C>T	ENST00000368196.3	+	15	2226	c.2106C>T	c.(2104-2106)agC>agT	p.S702S	NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000392302.2_Silent_p.S672S|NTRK1_ENST00000524377.1_Silent_p.S708S|NTRK1_ENST00000358660.3_Silent_p.S705S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	708	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCACCGAGAGCGACGTGTGGA	0.647			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			5	82					0	0	0	0	T	156849868	C	T	156849868	2	4	198	1	0	0	0	0	0	0	0	1	10777	767	27	1		1	NTRK1	1	156849868	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	228394	156849868	92400753	14	35330											
FCRL3	115352	broad.mit.edu	37	chr1	157667698	157667698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaggatgtaaagcctgcaGgatcagccagtctgcaaaga	14	6	12	9	0	2	1	1	0	1	1	2	4	2	3	2	2	4	3	2	2	3	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:157667698G>T	ENST00000368184.3	-	5	601	c.310C>A	c.(310-312)Ctg>Atg	p.L104M	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.L104M	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	104	Ig-like C2-type 2.					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)					AAAGCCTGCAGGATCAGCCAG	0.468													7	27					8.12818e-05	0.00016559	1	0	T	157667698	G	T	157667698	3	4	198	1	0	0	0	0	1	0	0	0	5841	991	35	4	1938	4	FCRL3	1	157667698	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	817830	157667698	91582923	15	35331											
SPTA1	6708	broad.mit.edu	37	chr1	158595971	158595971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaggaagtcaccaaggtCtgcaccattgccattggtct	10	10	11	10	0	3	1	1	1	2	0	3	2	3	2	3	3	2	1	3	3	2	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:158595971C>A	ENST00000368148.3	-	42	6055	c.5875G>T	c.(5875-5877)Gac>Tac	p.D1959Y	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1956Y|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1959					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D1959H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCACCAAGGTCTGCACCATTG	0.423													8	34					1.12685e-05	2.36484e-05	1	0	A	158595971	C	A	158595971	3	1	198	1	0	0	0	0	1	0	0	0	15206	913	32	2	1428	2	SPTA1	1	158595971	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	928273	158595971	90654650	16	35332											
OR6K6	128371	broad.mit.edu	37	chr1	158724934	158724934	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaccatccccaagatgcTgtcctgcctaatcagtgagc	11	8	7	15	0	1	2	1	1	0	1	3	2	3	2	6	0	4	1	6	0	3	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:158724934T>G	ENST00000368144.2	+	1	425	c.329T>G	c.(328-330)cTg>cGg	p.L110R		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCCAAGATGCTGTCCTGCCTA	0.512													35	113					0	0	0	0	G	158724934	T	G	158724934	3	3	198	1	0	0	0	0	1	0	0	0	11275	1580	55	5	331	5	OR6K6	1	158724934	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	128963	158724934	90525687	17	35333											
IFI16	3428	broad.mit.edu	37	chr1	159021690	159021690	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagttcaccccaaagaagatCattgccatagcaaattatgt	16	10	6	9	0	2	2	2	0	0	2	2	2	2	2	3	0	2	2	3	0	6	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:159021690C>G	ENST00000295809.7	+	10	2142	c.1887C>G	c.(1885-1887)atC>atG	p.I629M	IFI16_ENST00000368132.3_Missense_Mutation_p.I573M|IFI16_ENST00000368131.4_Missense_Mutation_p.I573M|IFI16_ENST00000340979.6_Missense_Mutation_p.I517M|IFI16_ENST00000430894.2_Missense_Mutation_p.I577M|IFI16_ENST00000448393.2_Missense_Mutation_p.I517M|IFI16_ENST00000359709.3_Missense_Mutation_p.I573M			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	629	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CAAAGAAGATCATTGCCATAG	0.423													13	59					0	0	0	0	G	159021690	C	G	159021690	3	3	198	1	0	0	0	0	1	0	0	0	7564	816	29	2	1749	2	IFI16	1	159021690	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	296756	159021690	90228931	18	35334											
CASQ1	844	broad.mit.edu	37	chr1	160160609	160160609	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcactgctgttgctgcTggtgctagggacacccaagt	6	10	14	11	0	0	0	0	0	0	0	0	1	0	1	1	3	4	7	1	3	2	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:160160609T>A	ENST00000368079.3	+	1	325	c.50T>A	c.(49-51)cTg>cAg	p.L17Q	CASQ1_ENST00000368078.3_Missense_Mutation_p.L23Q	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	23	Poly-Leu.					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGTTGCTGCTGGTGCTAGGG	0.592													9	38					0	0	0	0	A	160160609	T	A	160160609	3	1	198	1	0	0	0	0	1	0	0	0	2705	1580	55	5	70	5	CASQ1	1	160160609	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	1138919	160160609	89090012	19	35335											
DCAF8	50717	broad.mit.edu	37	chr1	160209906	160209906	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttcttcctcctcttcctCttcctctgagcggtcatgga	3	16	6	16	1	6	1	1	1	5	0	10	2	10	2	4	2	1	0	4	2	0	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:160209906C>G	ENST00000368073.3	-	4	738	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000368074.1_Missense_Mutation_p.E102Q|DCAF8_ENST00000556710.1_Missense_Mutation_p.E256Q|DCAF8_ENST00000326837.2_Missense_Mutation_p.E102Q			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	102						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						tcctcttcctcttcctctGAG	0.537													3	28					0	0	0	0	G	160209906	C	G	160209906	3	3	198	1	0	0	0	0	1	0	0	0	4309	922	32	2	1533	2	DCAF8	1	160209906	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	49297	160209906	89040715	20	35336											
F5	2153	broad.mit.edu	37	chr1	169511663	169511663	+	Nonsense_Mutation	SNP	T	T	A																															gcttaggtgtctcccaacttTatgtgctagtaatttcatcc																										TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:169511663T>A	ENST00000367796.3	-	13	2881	c.2680A>T	c.(2680-2682)Aaa>Taa	p.K894*	F5_ENST00000367797.3_Nonsense_Mutation_p.K889*			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	889	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTCCCAACTTTATGTGCTAGT	0.473													32	133					0	0	0	0	A	169511663	T	A	169511663	4	1	198	1	0	0	0	0	0	1	0	0	5386	1763	61	5	4061	5	F5	1	169511663	Nonsense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	9301757	169511663	79738958	21	35337	274	2									
F5	2153	broad.mit.edu	37	chr1	169511664	169511664	+	Missense_Mutation	SNP	A	A	T																															cttaggtgtctcccaactttAtgtgctagtaatttcatcca																										TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:169511664A>T	ENST00000367796.3	-	13	2880	c.2679T>A	c.(2677-2679)caT>caA	p.H893Q	F5_ENST00000367797.3_Missense_Mutation_p.H888Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	888	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCCCAACTTTATGTGCTAGTA	0.473													32	134					0	0	0	0	T	169511664	A	T	169511664	3	4	198	1	0	0	0	0	1	0	0	0	5386	446	16	5	4062	5	F5	1	169511664	Missense_Mutation	SNP	A	TCGA-CR-7371-01A-11D-2012-08	1	169511664	79738957	22	35338	274	2									
TNN	63923	broad.mit.edu	37	chr1	175086104	175086104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccaaaacctggtgaccGaccgggtgacagagaatatg	12	5	12	12	2	0	3	0	2	0	1	0	5	0	3	5	2	1	0	5	2	4	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:175086104G>T	ENST00000239462.4	+	10	2262	c.2149G>T	c.(2149-2151)Gac>Tac	p.D717Y		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	717	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.D717N(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTGGTGACCGACCGGGTGAC	0.512													25	119					2.44723e-14	5.83981e-14	1	0	T	175086104	G	T	175086104	3	4	198	1	0	0	0	0	1	0	0	0	16417	1058	37	3	2183	3	TNN	1	175086104	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	5574440	175086104	74164517	23	35339											
PAPPA2	60676	broad.mit.edu	37	chr1	176525600	176525600	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaggtgctgttggaaggaGaacgttgttggctgggggcc	7	10	18	6	1	1	1	1	0	0	1	1	3	1	2	1	6	2	5	1	6	2	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:176525600G>C	ENST00000367662.3	+	2	1306	c.142G>C	c.(142-144)Gaa>Caa	p.E48Q	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E48Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	48					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTTGGAAGGAGAACGTTGTTG	0.572													17	98					0	0	0	0	C	176525600	G	C	176525600	3	2	198	1	0	0	0	0	1	0	0	0	11504	943	33	2	144	2	PAPPA2	1	176525600	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1439496	176525600	72725021	24	35340											
IER5	51278	broad.mit.edu	37	chr1	181058479	181058479	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagccgcgtggaggggccGcgccaggcggcggccagaga	6	2	21	12	6	0	1	0	0	0	1	0	4	0	3	4	7	1	0	4	7	0	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:181058479G>C	ENST00000367577.4	+	1	842	c.441G>C	c.(439-441)ccG>ccC	p.P147P		NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	147										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						TGGAGGGGCCGCGCCAGGCGG	0.746													3	9					0	0	0	0	C	181058479	G	C	181058479	2	2	198	1	0	0	0	0	0	0	0	1	7561	1074	38	3		3	IER5	1	181058479	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	4532879	181058479	68192142	25	35341											
CFHR2	3080	broad.mit.edu	37	chr1	196920114	196920114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgagaacaacatttcatGtgtagaacggggctggtcca	13	9	11	8	1	1	2	1	1	0	2	2	3	2	2	1	3	3	2	1	3	5	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:196920114G>T	ENST00000367415.4	+	3	500	c.386G>T	c.(385-387)tGt>tTt	p.C129F	CFHR2_ENST00000367421.3_Missense_Mutation_p.C129F|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	129	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AACATTTCATGTGTAGAACGG	0.383													7	51					0.00448238	0.00873665	1	0	T	196920114	G	T	196920114	3	4	198	1	0	0	0	0	1	0	0	0	3314	1377	48	4	396	4	CFHR2	1	196920114	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	15861635	196920114	52330507	26	35342											
CRB1	23418	broad.mit.edu	37	chr1	197403914	197403914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatattaccagagaactcaCcaatatcacatttggtttca	15	12	5	9	0	3	1	3	0	0	1	3	3	3	1	2	1	2	1	2	1	6	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:197403914C>A	ENST00000367397.1	+	5	1922	c.1064C>A	c.(1063-1065)aCc>aAc	p.T355N	CRB1_ENST00000535699.1_Missense_Mutation_p.T950N|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.T974N|CRB1_ENST00000544212.1_Missense_Mutation_p.T455N|CRB1_ENST00000367399.2_Missense_Mutation_p.T862N			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	974	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.T974S(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGAGAACTCACCAATATCACA	0.333													8	42					0.00307968	0.00601794	1	0	A	197403914	C	A	197403914	3	1	198	1	0	0	0	0	1	0	0	0	3878	507	18	4	2955	4	CRB1	1	197403914	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	483800	197403914	51846707	27	35343											
SOX13	9580	broad.mit.edu	37	chr1	204093816	204093816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagaagcagccctactatGaggaacaggcgcggctgagc	12	4	15	10	2	0	3	0	2	0	1	0	5	0	4	1	4	5	2	1	4	4	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:204093816G>A	ENST00000367204.1	+	13	1532	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	475					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCCTACTATGAGGAACAGGC	0.632													6	18					0	0	0	0	A	204093816	G	A	204093816	3	1	198	1	0	0	0	0	1	0	0	0	15032	1291	45	2	1469	2	SOX13	1	204093816	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	6689902	204093816	45156805	28	35344											
PROX1	5629	broad.mit.edu	37	chr1	214170122	214170122	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagggcgaactcgtatgaaGatgccatgatgccttttcca	11	10	11	9	2	0	4	0	2	0	2	2	5	1	4	3	1	3	1	3	1	3	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:214170122G>C	ENST00000366958.4	+	2	852	c.244G>C	c.(244-246)Gat>Cat	p.D82H	PROX1_ENST00000435016.1_Missense_Mutation_p.D82H|PROX1_ENST00000261454.4_Missense_Mutation_p.D82H|PROX1_ENST00000498508.2_Missense_Mutation_p.D82H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	82					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTCGTATGAAGATGCCATGAT	0.483													4	83					0	0	0	0	C	214170122	G	C	214170122	3	2	198	1	0	0	0	0	1	0	0	0	12640	942	33	2	246	2	PROX1	1	214170122	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	10076306	214170122	35080499	29	35345											
USH2A	7399	broad.mit.edu	37	chr1	215821936	215821936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgtccttgaggccagcGtcccgatttgtggagaggac	7	8	15	11	3	0	2	0	1	0	1	2	5	2	3	4	4	1	0	4	4	0	2	rs139065588		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:215821936G>A	ENST00000366943.2	-	66	14902	c.14516C>T	c.(14515-14517)aCg>aTg	p.T4839M	USH2A_ENST00000307340.3_Missense_Mutation_p.T4839M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4839	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T4839K(1)|p.T4839M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAGGCCAGCGTCCCGATTTG	0.572										HNSCC(13;0.011)			23	65					0	0	0	0	A	215821936	G	A	215821936	3	1	198	1	0	0	0	0	1	0	0	0	17132	1145	40	1	1120	1	USH2A	1	215821936	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1651814	215821936	33428685	30	35346											
TTC13	79573	broad.mit.edu	37	chr1	231076226	231076226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccgatgtctgtacagcCgtgctgagggctgcagttgg	5	11	14	11	2	1	1	0	1	1	0	2	2	2	1	3	2	4	5	3	2	1	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:231076226C>A	ENST00000366661.4	-	7	756	c.749G>T	c.(748-750)cGg>cTg	p.R250L	TTC13_ENST00000414259.1_Missense_Mutation_p.R197L|TTC13_ENST00000366662.4_Missense_Mutation_p.R197L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	250							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCTGTACAGCCGTGCTGAGGG	0.423													7	35					0.00198382	0.00390644	1	0	A	231076226	C	A	231076226	3	1	198	1	0	0	0	0	1	0	0	0	16776	652	23	3	1901	3	TTC13	1	231076226	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	15254290	231076226	18174395	31	35347											
ACTN2	88	broad.mit.edu	37	chr1	236900470	236900470	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggttcttgctgtgaatcaaGagaatgagaggctgatggaa	13	10	14	4	0	2	4	1	3	1	2	2	7	2	5	0	3	1	3	0	3	4	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:236900470G>C	ENST00000366578.4	+	9	998	c.832G>C	c.(832-834)Gag>Cag	p.E278Q	ACTN2_ENST00000542672.1_Missense_Mutation_p.E278Q|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	278					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGTGAATCAAGAGAATGAGAG	0.512													7	45					0	0	0	0	C	236900470	G	C	236900470	3	2	198	1	0	0	0	0	1	0	0	0	205	943	33	2	866	2	ACTN2	1	236900470	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	5824244	236900470	12350151	32	35348											
MTR	4548	broad.mit.edu	37	chr1	236979822	236979822	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggatttgtcatcagcgTgtctcatggagaaccactct	10	11	11	9	1	4	2	3	0	2	2	5	4	4	3	1	2	2	0	1	2	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:236979822T>A	ENST00000366577.5	+	8	1137	c.743T>A	c.(742-744)gTg>gAg	p.V248E	MTR_ENST00000418145.2_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.V248E	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	248	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTCATCAGCGTGTCTCATGGA	0.458													26	101					0	0	0	0	A	236979822	T	A	236979822	3	1	198	1	0	0	0	0	1	0	0	0	10028	1696	59	5	773	5	MTR	1	236979822	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	79352	236979822	12270799	33	35349											
WDR64	128025	broad.mit.edu	37	chr1	241953918	241953918	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaaatgagctcagtgtctCtacttttcaaacgcacacct	13	11	6	11	1	3	1	2	1	1	0	4	2	3	1	1	0	3	2	1	0	4	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:241953918C>G	ENST00000366552.2	+	24	3094	c.2887C>G	c.(2887-2889)Cta>Gta	p.L963V	WDR64_ENST00000437684.2_Missense_Mutation_p.L796V	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	963										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTCAGTGTCTCTACTTTTCAA	0.353													26	84					0	0	0	0	G	241953918	C	G	241953918	3	3	198	1	0	0	0	0	1	0	0	0	17411	912	32	2	2981	2	WDR64	1	241953918	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	4974096	241953918	7296703	34	35350											
PXDN	7837	broad.mit.edu	37	chr2	1664703	1664703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgacccaatggtgttccggGccacacactcatagcgacct	9	7	9	16	3	1	0	1	0	0	0	2	2	2	0	5	2	1	1	5	2	2	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:1664703G>C	ENST00000252804.4	-	14	1837	c.1787C>G	c.(1786-1788)gCc>gGc	p.A596G		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	596	Ig-like C2-type 4.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTGTTCCGGGCCACACACTC	0.522													5	57					0	0	0	0	C	1664703	G	C	1664703	3	2	198	1	0	0	0	0	1	0	0	0	12929	1203	42	4	2692	4	PXDN	2	1664703	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08		1664703	241534670	35	35351											
ADCY3	109	broad.mit.edu	37	chr2	25050956	25050956	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagttgtaatacttggggttCtccaggcagctgccctccgt	6	13	11	11	1	1	0	0	0	1	0	3	0	2	0	3	3	3	5	3	3	3	6			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:25050956C>T	ENST00000260600.5	-	13	3098	c.2247G>A	c.(2245-2247)gaG>gaA	p.E749E	ADCY3_ENST00000405392.1_Intron|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	749					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ACTTGGGGTTCTCCAGGCAGC	0.607											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	36					0	0	0	0	T	25050956	C	T	25050956	2	4	198	1	0	0	0	0	0	0	0	1	295	912	32	2		2	ADCY3	2	25050956	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	23386253	25050956	218148417	36	35352											
MAPRE3	22924	broad.mit.edu	37	chr2	27247054	27247054	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattctttgacgcaaactatGatggaaaggattacaaccct	15	11	7	8	1	1	2	0	2	1	0	1	4	1	4	1	2	3	1	1	2	6	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:27247054G>C	ENST00000233121.2	+	4	556	c.358G>C	c.(358-360)Gat>Cat	p.D120H	MAPRE3_ENST00000405074.3_Missense_Mutation_p.D120H|MAPRE3_ENST00000402218.1_Missense_Mutation_p.D120H			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	120					cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCAAACTATGATGGAAAGGA	0.413													7	34					0	0	0	0	C	27247054	G	C	27247054	3	2	198	1	0	0	0	0	1	0	0	0	9365	1290	45	2	368	2	MAPRE3	2	27247054	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	2196098	27247054	215952319	37	35353											
BIRC6	57448	broad.mit.edu	37	chr2	32667279	32667279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggttagctggagttcattCaaatggacccggaaggttaa	11	12	12	6	1	2	0	2	0	0	0	2	3	2	3	1	5	1	4	1	5	4	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:32667279C>T	ENST00000421745.2	+	18	4225	c.4091C>T	c.(4090-4092)tCa>tTa	p.S1364L		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1364					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGAGTTCATTCAAATGGACCC	0.388													6	43					0	0	0	0	T	32667279	C	T	32667279	3	4	198	1	0	0	0	0	1	0	0	0	1443	838	29	2	4161	2	BIRC6	2	32667279	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	5420225	32667279	210532094	38	35354											
HEATR5B	54497	broad.mit.edu	37	chr2	37217854	37217854	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagccattctgtaatgactgGactcctattatttcattact	10	16	5	10	0	2	1	1	1	1	0	3	2	3	2	2	1	2	1	2	1	4	6			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:37217854G>C	ENST00000233099.5	-	34	5729	c.5634C>G	c.(5632-5634)gtC>gtG	p.V1878V	HEATR5B_ENST00000354531.2_Silent_p.V1789V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1878							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTAATGACTGGACTCCTATTA	0.373													10	47					0	0	0	0	C	37217854	G	C	37217854	2	2	198	1	0	0	0	0	0	0	0	1	7082	1161	41	2		2	HEATR5B	2	37217854	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	4550575	37217854	205981519	39	35355											
C2orf78	388960	broad.mit.edu	37	chr2	74041177	74041177	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacactggggcctcaactatCctgcctgcaatcttatggct	8	11	8	14	0	2	0	1	0	1	0	3	0	3	0	3	3	3	2	3	3	4	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:74041177C>G	ENST00000409561.1	+	2	792	c.671C>G	c.(670-672)tCc>tGc	p.S224C		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	224										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCTCAACTATCCTGCCTGCAA	0.483													18	74					0	0	0	0	G	74041177	C	G	74041177	3	3	198	1	0	0	0	0	1	0	0	0	2215	855	30	2	677	2	C2orf78	2	74041177	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	36823323	74041177	169158196	40	35356											
CTNNA2	1496	broad.mit.edu	37	chr2	80097015	80097015	+	Missense_Mutation	SNP	G	G	T																															aaaccgttttaaagagtttgGgaaagagatggtgaaactta																										TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:80097015G>T	ENST00000466387.1	+	9	1263	c.539G>T	c.(538-540)gGg>gTg	p.G180V	CTNNA2_ENST00000496558.1_Missense_Mutation_p.G180V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.G180V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.G180V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.G180V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.G214V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	180					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAAGAGTTTGGGAAAGAGATG	0.403													8	52					5.4927e-09	1.21601e-08	1	0	T	80097015	G	T	80097015	3	4	198	1	0	0	0	0	1	0	0	0	4045	1232	43	4	553	4	CTNNA2	2	80097015	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	6055838	80097015	163102358	41	35357	275	2									
CTNNA2	1496	broad.mit.edu	37	chr2	80097016	80097016	+	Silent	SNP	G	G	T																															aaccgttttaaagagtttggGaaagagatggtgaaacttaa																										TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:80097016G>T	ENST00000466387.1	+	9	1264	c.540G>T	c.(538-540)ggG>ggT	p.G180G	CTNNA2_ENST00000496558.1_Silent_p.G180G|CTNNA2_ENST00000402739.4_Silent_p.G180G|CTNNA2_ENST00000540488.1_Silent_p.G180G|CTNNA2_ENST00000541047.1_Silent_p.G180G|CTNNA2_ENST00000361291.4_Silent_p.G214G			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	180					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAGAGTTTGGGAAAGAGATGG	0.403													8	52					5.4927e-09	1.21601e-08	1	0	T	80097016	G	T	80097016	2	4	198	1	0	0	0	0	0	0	0	1	4045	1161	41	2		2	CTNNA2	2	80097016	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1	80097016	163102357	42	35358	275	2									
LRRTM1	347730	broad.mit.edu	37	chr2	80530635	80530635	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaggcgtccccctgcaCggagcagatgtgattgtgat	9	9	13	10	2	0	4	0	3	0	1	1	5	1	5	2	2	2	2	2	2	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:80530635C>G	ENST00000295057.3	-	2	966	c.310G>C	c.(310-312)Gtg>Ctg	p.V104L	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.V104L|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	104						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TCCCCCTGCACGGAGCAGATG	0.597										HNSCC(69;0.2)			22	110					0	0	0	0	G	80530635	C	G	80530635	3	3	198	1	0	0	0	0	1	0	0	0	9103	536	19	3	1262	3	LRRTM1	2	80530635	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	433619	80530635	162668738	43	35359											
GPAT2	150763	broad.mit.edu	37	chr2	96689186	96689186	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggctggccgggagcctggGgtctaggggccgtggagcca	5	5	20	11	2	1	0	0	0	1	0	1	2	1	2	4	8	2	1	4	8	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:96689186G>A	ENST00000434632.1	-	19	2358	c.1899C>T	c.(1897-1899)acC>acT	p.T633T	GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000453542.1_Silent_p.T562T|GPAT2_ENST00000359548.4_Silent_p.T633T			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	633					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GGGAGCCTGGGGTCTAGGGGC	0.567													10	41					0	0	0	0	A	96689186	G	A	96689186	2	1	198	1	0	0	0	0	0	0	0	1	6638	1219	43	4		4	GPAT2	2	96689186	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	16158551	96689186	146510187	44	35360											
KYNU	8942	broad.mit.edu	37	chr2	143712377	143712377	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgatatgtttattttacAggagccaatgagaaagaaat	16	13	8	4	1	0	2	0	1	0	2	0	5	0	3	1	1	3	1	1	1	7	6			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:143712377A>G	ENST00000264170.4	+	5	631		c.e5-1		KYNU_ENST00000409512.1_Splice_Site|KYNU_ENST00000375773.2_Splice_Site	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase						anthranilate metabolic process|NAD biosynthetic 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)	TTTATTTTACAGGAGCCAATG	0.303													11	27					0	0	0	0	G	143712377	A	G	143712377	5	3	198	1	0	0	0	0	0	0	1	0	8640	202	7	5	386	5	KYNU	2	143712377	Splice_Site	SNP	A	TCGA-CR-7371-01A-11D-2012-08	47023191	143712377	99486996	45	35361											
ATP5G3	518	broad.mit.edu	37	chr2	176043799	176043799	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattacctggcataaccaatGataaggctgccaaagactgt	14	9	9	9	0	0	2	0	1	0	1	0	3	0	2	3	2	3	2	3	2	5	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:176043799G>C	ENST00000284727.4	-	4	3324	c.300C>G	c.(298-300)atC>atG	p.I100M	ATP5G3_ENST00000409194.1_Missense_Mutation_p.I100M|ATP5G3_ENST00000392541.3_Missense_Mutation_p.I100M	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	100					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CATAACCAATGATAAGGCTGC	0.413													11	42					0	0	0	0	C	176043799	G	C	176043799	3	2	198	1	0	0	0	0	1	0	0	0	1159	1280	45	2	140	2	ATP5G3	2	176043799	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	32331422	176043799	67155574	46	35362											
OSBPL6	114880	broad.mit.edu	37	chr2	179259094	179259094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagagaagcaaagagtagaGgaactccagagatctcggag	16	5	13	7	1	2	4	1	0	1	4	4	8	3	6	1	2	2	2	1	2	4	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:179259094G>A	ENST00000190611.4	+	24	3004	c.2628G>A	c.(2626-2628)gaG>gaA	p.E876E	OSBPL6_ENST00000315022.2_Silent_p.E880E|OSBPL6_ENST00000409631.1_Silent_p.E840E|OSBPL6_ENST00000409045.3_Silent_p.E845E|OSBPL6_ENST00000392505.2_Silent_p.E901E|OSBPL6_ENST00000359685.3_Silent_p.E840E	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	876					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AAAGAGTAGAGGAACTCCAGA	0.348													22	66					0	0	0	0	A	179259094	G	A	179259094	2	1	198	1	0	0	0	0	0	0	0	1	11352	991	35	4		4	OSBPL6	2	179259094	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	3215295	179259094	63940279	47	35363											
TTN	7273	broad.mit.edu	37	chr2	179579978	179579978	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ataggatgaggctttttgcgGaaaatgggtggttctaaaat	12	13	13	3	1	1	1	0	1	1	0	1	3	1	3	0	5	1	2	0	5	5	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:179579978G>A	ENST00000589042.1	-	90	26159	c.25935C>T	c.(25933-25935)ttC>ttT	p.F8645F	TTN_ENST00000591111.1_Silent_p.F8328F|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.F7401F|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8328	Ig-like 69.						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)			GCTTTTTGCGGAAAATGGGTG	0.388													19	43					0	0	0	0	A	179579978	G	A	179579978	2	1	198	1	0	0	0	0	0	0	0	1	16831	1165	41	2		2	TTN	2	179579978	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	320884	179579978	63619395	48	35364											
FRZB	2487	broad.mit.edu	37	chr2	183731215	183731215	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgggcacccggagcaggcaGagagcagccagggcaagcag	11	0	17	13	2	0	1	0	0	0	1	0	3	0	2	3	4	4	6	3	4	1	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:183731215G>A	ENST00000295113.4	-	1	675	c.66C>T	c.(64-66)ctC>ctT	p.L22L		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	22					brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGAGCAGGCAGAGAGCAGCCA	0.706													4	5					0	0	0	0	A	183731215	G	A	183731215	2	1	198	1	0	0	0	0	0	0	0	1	6113	929	33	2		2	FRZB	2	183731215	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	4151237	183731215	59468158	49	35365											
CFLAR	8837	broad.mit.edu	37	chr2	202005138	202005138	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcaatccaaaagagtctCaaggatccttcaaataactt	16	9	6	10	0	2	1	2	0	1	1	5	2	4	2	2	1	2	2	2	1	6	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:202005138C>T	ENST00000309955.2	+	5	1097	c.582C>T	c.(580-582)ctC>ctT	p.L194L	CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000355558.4_Silent_p.L194L|CFLAR_ENST00000342795.5_Silent_p.L194L|CFLAR_ENST00000341582.6_Silent_p.L194L|CFLAR_ENST00000341222.6_Silent_p.L194L|CFLAR_ENST00000340870.5_Silent_p.L194L|CFLAR_ENST00000443227.1_Silent_p.L98L|CFLAR_ENST00000479953.2_Silent_p.L98L|CFLAR_ENST00000494258.1_Silent_p.L98L|CFLAR-AS1_ENST00000474886.2_RNA|CFLAR_ENST00000457277.1_Silent_p.L194L|CFLAR_ENST00000423241.2_Silent_p.L194L|CFLAR_ENST00000440180.1_Silent_p.L194L	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	194	Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	p.L194L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						AAAAGAGTCTCAAGGATCCTT	0.388													13	38					0	0	0	0	T	202005138	C	T	202005138	2	4	198	1	0	0	0	0	0	0	0	1	3321	813	29	2		2	CFLAR	2	202005138	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	18273923	202005138	41194235	50	35366											
ING5	84289	broad.mit.edu	37	chr2	242662623	242662623	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctccctttactttgcAgtgtccaattgagtggtttc	5	18	9	9	0	1	1	0	1	1	0	4	1	2	1	2	2	2	3	2	2	2	6			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:242662623A>T	ENST00000313552.6	+	7	644		c.e7-1		ING5_ENST00000406941.1_Splice_Site	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5						DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTTACTTTGCAGTGTCCAATT	0.522													57	191					0	0	0	0	T	242662623	A	T	242662623	5	4	198	1	0	0	0	0	0	0	1	0	7792	202	7	5	643	5	ING5	2	242662623	Splice_Site	SNP	A	TCGA-CR-7371-01A-11D-2012-08	40657485	242662623	536750	51	35367											
SMARCC1	6599	broad.mit.edu	37	chr3	47712147	47712147	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catatgcattaatctgcttaCctccaggagtagaagggtct	11	12	9	9	0	2	1	0	0	2	1	3	2	3	2	2	2	3	3	2	2	5	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:47712147C>A	ENST00000254480.5	-	19	2019		c.e19+1		SMARCC1_ENST00000425518.1_Splice_Site	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1						chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AATCTGCTTACCTCCAGGAGT	0.388													5	20					0.00198382	0.00390644	1	0	A	47712147	C	A	47712147	5	1	198	1	0	0	0	0	0	0	1	0	14863	521	18	4	1457	4	SMARCC1	3	47712147	Splice_Site	SNP	C	TCGA-CR-7371-01A-11D-2012-08		47712147	150310283	52	35368											
CNTN3	5067	broad.mit.edu	37	chr3	74350693	74350693	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttcccatcgatgacctCaggcactacaaaggaatatt	12	10	7	12	2	2	1	1	1	1	0	4	3	3	2	2	2	1	1	2	2	4	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:74350693C>A	ENST00000263665.6	-	15	1978	c.1951G>T	c.(1951-1953)Gag>Tag	p.E651*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	651	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCGATGACCTCAGGCACTACA	0.448													25	48					1.66031e-10	3.7187e-10	1	0	A	74350693	C	A	74350693	4	1	198	1	0	0	0	0	0	1	0	0	3672	835	29	2	1167	2	CNTN3	3	74350693	Nonsense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	26638546	74350693	123671737	53	35369											
CNTN3	5067	broad.mit.edu	37	chr3	74411068	74411068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcctgcacgctcacatccCccttcttccaggaagagagt	8	9	8	16	1	2	1	1	0	1	1	5	3	5	2	4	1	1	3	4	1	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:74411068C>T	ENST00000263665.6	-	10	1364	c.1337G>A	c.(1336-1338)gGg>gAg	p.G446E		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	446	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCTCACATCCCCCTTCTTCCA	0.473													12	35					0	0	0	0	T	74411068	C	T	74411068	3	4	198	1	0	0	0	0	1	0	0	0	3672	623	22	4	1801	4	CNTN3	3	74411068	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	60375	74411068	123611362	54	35370											
POU1F1	5449	broad.mit.edu	37	chr3	87325510	87325510	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatggttggagactggtaGacactcggcagcactgtgat	9	9	15	8	1	0	3	0	1	0	2	1	4	0	3	0	5	1	5	0	5	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:87325510G>A	ENST00000350375.2	-	1	227	c.103C>T	c.(103-105)Cta>Tta	p.L35L	POU1F1_ENST00000344265.3_Silent_p.L35L|POU1F1_ENST00000560656.1_Silent_p.L35L	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	35					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		GAGACTGGTAGACACTCGGCA	0.453													14	64					0	0	0	0	A	87325510	G	A	87325510	2	1	198	1	0	0	0	0	0	0	0	1	12340	933	33	2		2	POU1F1	3	87325510	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	12914442	87325510	110696920	55	35371											
LNP1	348801	broad.mit.edu	37	chr3	100170695	100170695	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggatgggtcattcaaggagCcactggaatcaaaaggaaga	16	6	13	6	0	3	1	3	0	0	1	3	5	3	5	1	5	1	0	1	5	5	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:100170695C>A	ENST00000383693.3	+	3	1569	c.289C>A	c.(289-291)Cca>Aca	p.P97T	LNP1_ENST00000489752.1_Missense_Mutation_p.P110T	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	97										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						ATTCAAGGAGCCACTGGAATC	0.453													15	59					3.45872e-05	7.16048e-05	1	0	A	100170695	C	A	100170695	3	1	198	1	0	0	0	0	1	0	0	0	8918	739	26	4	295	4	LNP1	3	100170695	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	12845185	100170695	97851735	56	35372											
ADCY5	111	broad.mit.edu	37	chr3	123019032	123019032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacctggcacctccacgatGagcacgtagatgagctcgat	11	7	10	13	3	0	3	0	2	0	1	2	5	1	3	3	1	2	4	3	1	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:123019032G>A	ENST00000462833.1	-	15	4047	c.2835C>T	c.(2833-2835)ctC>ctT	p.L945L	ADCY5_ENST00000309879.5_Silent_p.L595L|ADCY5_ENST00000491190.1_Silent_p.L578L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	945					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCTCCACGATGAGCACGTAGA	0.632													5	58					0	0	0	0	A	123019032	G	A	123019032	2	1	198	1	0	0	0	0	0	0	0	1	297	1277	45	2		2	ADCY5	3	123019032	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	22848337	123019032	75003398	57	35373											
UROC1	131669	broad.mit.edu	37	chr3	126220752	126220752	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagggcagcagggaggccGgcccagcccagggcttgttg	6	4	17	14	1	0	0	0	0	0	0	0	1	0	1	4	5	2	4	4	5	0	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:126220752G>T	ENST00000383579.3	-	10	975	c.942C>A	c.(940-942)gcC>gcA	p.A314A	UROC1_ENST00000290868.2_Intron	NM_001165974.1	NP_001159446.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	0					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CAGGGAGGCCGGCCCAGCCCA	0.647													13	52					7.03913e-09	1.55388e-08	1	0	T	126220752	G	T	126220752	2	4	198	1	0	0	0	0	0	0	0	1	17124	1103	39	3		3	UROC1	3	126220752	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	3201720	126220752	71801678	58	35374											
PIK3R4	30849	broad.mit.edu	37	chr3	130463595	130463595	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaacccaattccaactggtGaccatcacattctcagtctt	12	11	5	13	0	3	2	2	1	2	1	5	2	4	2	3	1	2	0	3	1	3	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:130463595G>A	ENST00000356763.3	-	2	1025	c.468C>T	c.(466-468)gtC>gtT	p.V156V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	156	Protein kinase.				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						TCCAACTGGTGACCATCACAT	0.443													14	84					0	0	0	0	A	130463595	G	A	130463595	2	1	198	1	0	0	0	0	0	0	0	1	11993	1277	45	2		2	PIK3R4	3	130463595	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	4242843	130463595	67558835	59	35375											
NEK11	79858	broad.mit.edu	37	chr3	130828653	130828653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcttcatttcagggccgaGatctggacgataaaattcag	11	11	10	9	2	5	1	3	0	2	1	5	4	5	2	1	2	0	1	1	2	2	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:130828653G>A	ENST00000383366.4	+	5	636	c.343G>A	c.(343-345)Gat>Aat	p.D115N	NEK11_ENST00000429253.2_Missense_Mutation_p.D115N|NEK11_ENST00000511262.1_Missense_Mutation_p.D115N|NEK11_ENST00000507910.1_Missense_Mutation_p.D115N|NEK11_ENST00000510688.1_Missense_Mutation_p.D115N|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000508196.1_Missense_Mutation_p.D115N|NEK11_ENST00000510769.1_Missense_Mutation_p.D115N|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000356918.4_Missense_Mutation_p.D115N	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	115	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCAGGGCCGAGATCTGGACGA	0.333													8	101					0	0	0	0	A	130828653	G	A	130828653	3	1	198	1	0	0	0	0	1	0	0	0	10393	942	33	2	353	2	NEK11	3	130828653	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	365058	130828653	67193777	60	35376											
ATP1B3	483	broad.mit.edu	37	chr3	141622516	141622516	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcctggctgcactcttctCattcacgatgtgggttatgc	5	15	10	11	1	3	0	2	0	2	0	5	1	4	0	1	2	2	4	1	2	1	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:141622516C>G	ENST00000539728.1	+	3	415	c.122C>G	c.(121-123)tCa>tGa	p.S41*	ATP1B3_ENST00000286371.3_Nonsense_Mutation_p.S55*|ATP1B3_ENST00000462082.1_Missense_Mutation_p.H9D			P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	55					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						GCACTCTTCTCATTCACGATG	0.413													16	81					0	0	0	0	G	141622516	C	G	141622516	4	3	198	1	0	0	0	0	0	1	0	0	1138	838	29	2	170	2	ATP1B3	3	141622516	Nonsense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	10793863	141622516	56399914	61	35377											
CPB1	1360	broad.mit.edu	37	chr3	148562481	148562481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagccgattttggagaaaGactcgctccacccatactgg	11	8	10	12	2	0	3	0	0	0	3	2	5	1	3	3	2	2	1	3	2	2	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:148562481G>T	ENST00000491148.1	+	9	1039	c.705G>T	c.(703-705)aaG>aaT	p.K235N	CPB1_ENST00000282957.4_Missense_Mutation_p.K235N			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	235					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTTGGAGAAAGACTCGCTCCA	0.438													14	101					9.05144e-12	2.11384e-11	1	0	T	148562481	G	T	148562481	3	4	198	1	0	0	0	0	1	0	0	0	3826	933	33	2	735	2	CPB1	3	148562481	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	6939965	148562481	49459949	62	35378											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			9	56					0	0	0	0	A	178936091	G	A	178936091	3	1	198	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	30373610	178936091	19086339	63	35379											
ZNF639	51193	broad.mit.edu	37	chr3	179051458	179051458	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactgattcaaatgtgtgtCgagtatgcaaggaaagtttc	12	13	11	5	1	1	1	1	1	0	0	3	3	1	2	0	1	2	4	0	1	5	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:179051458C>T	ENST00000326361.3	+	7	1151	c.706C>T	c.(706-708)Cga>Tga	p.R236*	ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Nonsense_Mutation_p.R236*|ZNF639_ENST00000484866.1_Nonsense_Mutation_p.R236*	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	236					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAATGTGTGTCGAGTATGCAA	0.353													18	71					0	0	0	0	T	179051458	C	T	179051458	4	4	198	1	0	0	0	0	0	1	0	0	18151	876	31	1	720	1	ZNF639	3	179051458	Nonsense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	115367	179051458	18970972	64	35380											
TTC14	151613	broad.mit.edu	37	chr3	180324283	180324283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctagatatgcgacaaaagGaagtttgaacaaagcaatag	18	8	9	6	1	1	2	0	1	1	1	1	4	1	3	0	1	3	2	0	1	9	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:180324283G>T	ENST00000412756.2	+	9	1133	c.1064G>T	c.(1063-1065)gGa>gTa	p.G355V	TTC14_ENST00000296015.4_Missense_Mutation_p.G355V|TTC14_ENST00000382584.4_Missense_Mutation_p.G355V	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	355							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCGACAAAAGGAAGTTTGAAC	0.373													11	135					5.50884e-06	1.15928e-05	1	0	T	180324283	G	T	180324283	3	4	198	1	0	0	0	0	1	0	0	0	16777	1174	41	2	1098	2	TTC14	3	180324283	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1272825	180324283	17698147	65	35381											
ATP13A3	79572	broad.mit.edu	37	chr3	194169313	194169313	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcatctcctattcctttCacatccactgaaggatttgg	10	15	5	11	0	3	1	2	1	1	0	6	2	5	2	3	2	0	0	3	2	3	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:194169313C>T	ENST00000439040.1	-	12	1814	c.1023G>A	c.(1021-1023)gtG>gtA	p.V341V	ATP13A3_ENST00000256031.4_Silent_p.V341V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	341					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CTATTCCTTTCACATCCACTG	0.333													11	53					0	0	0	0	T	194169313	C	T	194169313	2	4	198	1	0	0	0	0	0	0	0	1	1129	813	29	2		2	ATP13A3	3	194169313	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	13845030	194169313	3853117	66	35382											
MUC20	200958	broad.mit.edu	37	chr3	195451995	195451995	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagctaagggcctgtcctCagagagcagcgcctcttccg	9	7	12	13	2	2	2	1	0	1	2	4	3	4	2	4	1	3	2	4	1	2	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:195451995C>G	ENST00000320736.6	+	2	647	c.521C>G	c.(520-522)tCa>tGa	p.S174*	MUC20_ENST00000447234.2_Nonsense_Mutation_p.S174*|MUC20_ENST00000445522.2_Nonsense_Mutation_p.S139*|MUC20_ENST00000436408.1_Nonsense_Mutation_p.S174*	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	345	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GGCCTGTCCTCAGAGAGCAGC	0.587													19	133					0	0	0	0	G	195451995	C	G	195451995	4	3	198	1	0	0	0	0	0	1	0	0	10046	838	29	2	527	2	MUC20	3	195451995	Nonsense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	1282682	195451995	2570435	67	35383											
LDB2	9079	broad.mit.edu	37	chr4	16760821	16760821	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaaacaaaatgaaagggtTaatgtggcgtcatcttcaaa	16	10	8	7	1	3	1	2	1	1	0	4	1	4	1	1	2	1	1	1	2	6	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:16760821T>A	ENST00000502640.1	-	2	343	c.195A>T	c.(193-195)ttA>ttT	p.L65F	LDB2_ENST00000441778.2_Missense_Mutation_p.L65F|LDB2_ENST00000515064.1_Missense_Mutation_p.L65F|LDB2_ENST00000304523.5_Missense_Mutation_p.L65F			O43679	LDB2_HUMAN	LIM domain binding 2	65							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						ATGAAAGGGTTAATGTGGCGT	0.388													11	47					0	0	0	0	A	16760821	T	A	16760821	3	1	198	1	0	0	0	0	1	0	0	0	8749	1751	61	5	1063	5	LDB2	4	16760821	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08		16760821	174393455	68	35384											
SOD3	6649	broad.mit.edu	37	chr4	24801160	24801160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccatgctggcgctactgtGttcctgcctgctcctggcag	4	11	12	14	1	0	0	0	0	0	0	2	0	2	0	4	2	5	5	4	2	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:24801160G>T	ENST00000382120.3	+	2	222	c.17G>T	c.(16-18)tGt>tTt	p.C6F		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	6					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				GCGCTACTGTGTTCCTGCCTG	0.662													3	13					0.004672	0.00908313	1	0	T	24801160	G	T	24801160	3	4	198	1	0	0	0	0	1	0	0	0	15010	1377	48	4	19	4	SOD3	4	24801160	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	8040339	24801160	166353116	69	35385											
ATP8A1	10396	broad.mit.edu	37	chr4	42602537	42602537	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcaccatttctcaaaacTggaaagagaaaaggtgacat	18	7	8	8	0	1	2	1	1	1	1	2	4	1	3	1	2	2	1	1	2	6	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:42602537T>A	ENST00000381668.5	-	6	641		c.e6-2		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTCTCAAAACTGGAAAGAGAA	0.333													5	27					0	0	0	0	A	42602537	T	A	42602537	5	1	198	1	0	0	0	0	0	0	1	0	1196	1594	55	5	3292	5	ATP8A1	4	42602537	Splice_Site	SNP	T	TCGA-CR-7371-01A-11D-2012-08	17801377	42602537	148551739	70	35386											
ATP10D	57205	broad.mit.edu	37	chr4	47559897	47559897	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaggtctcccaggtgtgtGagagcccccagtgctccagt	8	8	13	12	0	1	2	0	1	1	2	3	3	2	2	4	2	2	1	4	2	1	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:47559897G>C	ENST00000273859.3	+	12	2310	c.2041G>C	c.(2041-2043)Gag>Cag	p.E681Q	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	681					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCAGGTGTGTGAGAGCCCCCA	0.552													6	44					0	0	0	0	C	47559897	G	C	47559897	3	2	198	1	0	0	0	0	1	0	0	0	1122	1291	45	2	2083	2	ATP10D	4	47559897	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	4957360	47559897	143594379	71	35387											
AASDH	132949	broad.mit.edu	37	chr4	57221514	57221514	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaccaagggctaatactcGaagagaagtagtggctgaca	15	6	11	9	1	0	2	0	1	0	1	1	4	0	2	2	2	1	3	2	2	6	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:57221514G>A	ENST00000205214.6	-	6	1117	c.937C>T	c.(937-939)Cga>Tga	p.R313*	AASDH_ENST00000451613.1_Nonsense_Mutation_p.R313*|AASDH_ENST00000502617.1_Nonsense_Mutation_p.R313*|AASDH_ENST00000513376.1_Nonsense_Mutation_p.R213*|AASDH_ENST00000602986.1_Nonsense_Mutation_p.R160*|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000434343.2_5'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	313					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GCTAATACTCGAAGAGAAGTA	0.368													10	59					0	0	0	0	A	57221514	G	A	57221514	4	1	198	1	0	0	0	0	0	1	0	0	22	1066	37	1	2399	1	AASDH	4	57221514	Nonsense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	9661617	57221514	133932762	72	35388											
FAM13A	10144	broad.mit.edu	37	chr4	89668809	89668809	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagggcggctgctttcCgctcgcttctcctggagctt	2	13	11	15	3	2	0	1	0	1	0	6	1	4	1	3	3	2	5	3	3	0	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:89668809C>A	ENST00000264344.5	-	18	2562	c.2355G>T	c.(2353-2355)gcG>gcT	p.A785A	FAM13A_ENST00000508369.1_Silent_p.A459A|FAM13A_ENST00000503556.1_Silent_p.A445A|FAM13A_ENST00000395002.2_Silent_p.A459A|FAM13A_ENST00000513837.1_Silent_p.A431A|FAM13A_ENST00000511976.1_Silent_p.A371A	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	785					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GGCTGCTTTCCGCTCGCTTCT	0.498													25	141					3.73988e-18	9.09445e-18	1	0	A	89668809	C	A	89668809	2	1	198	1	0	0	0	0	0	0	0	1	5493	639	23	3		3	FAM13A	4	89668809	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	32447295	89668809	101485467	73	35389											
GRID2	2895	broad.mit.edu	37	chr4	94693335	94693335	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcgtcaattgatttgaccCctctggacattgacactttg	8	14	7	12	1	2	3	1	3	1	0	3	4	2	4	3	1	0	0	3	1	1	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:94693335C>G	ENST00000282020.4	+	16	2968	c.2710C>G	c.(2710-2712)Cct>Gct	p.P904A	GRID2_ENST00000510992.1_Missense_Mutation_p.P809A	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	904					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGATTTGACCCCTCTGGACAT	0.458													5	80					0	0	0	0	G	94693335	C	G	94693335	3	3	198	1	0	0	0	0	1	0	0	0	6822	623	22	4	2772	4	GRID2	4	94693335	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	5024526	94693335	96460941	74	35390											
CENPE	1062	broad.mit.edu	37	chr4	104035710	104035710	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcttttgtagcactgattCtaacaaaaacaataaaaata	18	12	5	6	0	1	1	0	1	1	0	1	1	1	1	0	1	3	3	0	1	9	7			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:104035710C>T	ENST00000265148.3	-	46	7532		c.e46-1		CENPE_ENST00000380026.3_Splice_Site	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa						blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGCACTGATTCTAACAAAAAC	0.348													5	25					0	0	0	0	T	104035710	C	T	104035710	5	4	198	1	0	0	0	0	0	0	1	0	3259	927	32	2	679	2	CENPE	4	104035710	Splice_Site	SNP	C	TCGA-CR-7371-01A-11D-2012-08	9342375	104035710	87118566	75	35391											
COL25A1	84570	broad.mit.edu	37	chr4	109769944	109769944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atccattcctgggattcctgGagatccctgctctccctatt	6	14	7	14	0	1	1	0	0	1	1	6	3	5	2	5	2	1	1	5	2	1	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:109769944G>C	ENST00000399132.1	-	27	1935	c.1405C>G	c.(1405-1407)Cca>Gca	p.P469A	COL25A1_ENST00000399126.1_Missense_Mutation_p.P469A|COL25A1_ENST00000399127.1_Missense_Mutation_p.P442A	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	469	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGGATTCCTGGAGATCCCTGC	0.348													9	36					0	0	0	0	C	109769944	G	C	109769944	3	2	198	1	0	0	0	0	1	0	0	0	3714	1174	41	2	691	2	COL25A1	4	109769944	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	5734234	109769944	81384332	76	35392											
CAMK2D	817	broad.mit.edu	37	chr4	114376956	114376956	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctcctgagaagttttctttCccatttggaatacagggtgg	8	14	10	9	0	1	1	0	1	1	1	3	3	3	2	3	3	1	1	3	3	3	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:114376956C>T	ENST00000454265.2	-	20	2388	c.1530G>A	c.(1528-1530)ggG>ggA	p.G510G	CAMK2D_ENST00000342666.5_Silent_p.G485G|CAMK2D_ENST00000515496.1_Silent_p.G496G|CAMK2D_ENST00000514328.1_Silent_p.G484G|CAMK2D_ENST00000429180.1_Silent_p.G505G|CAMK2D_ENST00000394524.3_Intron|CAMK2D_ENST00000296402.5_Intron|CAMK2D_ENST00000511664.1_Silent_p.G519G|CAMK2D_ENST00000418639.2_Silent_p.G499G|CAMK2D_ENST00000394526.2_Silent_p.G496G			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	485					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AGTTTTCTTTCCCATTTGGAA	0.423													6	36					0	0	0	0	T	114376956	C	T	114376956	2	4	198	1	0	0	0	0	0	0	0	1	2626	842	30	2		2	CAMK2D	4	114376956	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	4607012	114376956	76777320	77	35393											
PCDH10	57575	broad.mit.edu	37	chr4	134084409	134084409	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggactgctgactaatacGcgagcgccttacaaaccacc	12	7	9	13	3	0	1	0	1	0	0	0	4	0	2	3	1	5	1	3	1	4	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:134084409G>T	ENST00000264360.4	+	4	3901	c.3075G>T	c.(3073-3075)acG>acT	p.T1025T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	1025					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGACTAATACGCGAGCGCCTT	0.483													14	134					6.72482e-11	1.53768e-10	1	0	T	134084409	G	T	134084409	2	4	198	1	0	0	0	0	0	0	0	1	11578	1074	38	3		3	PCDH10	4	134084409	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	19707453	134084409	57069867	78	35394											
ELF2	1998	broad.mit.edu	37	chr4	139980635	139980635	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgactacctttggagaggtCgctgttgttggactagtgct	7	14	13	7	1	0	2	0	1	0	1	1	4	0	3	1	3	2	4	1	3	2	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:139980635C>T	ENST00000394235.2	-	10	1750	c.1248G>A	c.(1246-1248)gcG>gcA	p.A416A	ELF2_ENST00000265495.4_Silent_p.A416A|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000379550.1_Silent_p.A428A|ELF2_ENST00000510408.1_Silent_p.A356A|ELF2_ENST00000358635.3_Silent_p.A368A|ELF2_ENST00000379549.2_Silent_p.A339A	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	428					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A416A(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TTGGAGAGGTCGCTGTTGTTG	0.428													12	34					0	0	0	0	T	139980635	C	T	139980635	2	4	198	1	0	0	0	0	0	0	0	1	5092	871	31	1		1	ELF2	4	139980635	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	5896226	139980635	51173641	79	35395											
FBXW7	55294	broad.mit.edu	37	chr4	153247311	153247311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgctgcaacatgacccatCaaaacatgtaaacactggcc	15	7	6	13	0	1	1	1	1	0	0	1	1	1	1	2	1	5	3	2	1	5	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:153247311C>T	ENST00000281708.4	-	10	2720	c.1491G>A	c.(1489-1491)ttG>ttA	p.L497L	FBXW7_ENST00000603841.1_Silent_p.L497L|FBXW7_ENST00000393956.3_Silent_p.L321L|FBXW7_ENST00000263981.5_Silent_p.L417L|FBXW7_ENST00000603548.1_Silent_p.L497L|FBXW7_ENST00000296555.5_Silent_p.L379L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	497					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CATGACCCATCAAAACATGTA	0.453			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								5	74					0	0	0	0	T	153247311	C	T	153247311	2	4	198	1	0	0	0	0	0	0	0	1	5814	825	29	2		2	FBXW7	4	153247311	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	13266676	153247311	37906965	80	35396											
MARCH1	55016	broad.mit.edu	37	chr4	164466767	164466767	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccattgtcattgccttgcttGatttcctccgctgtccggtc	3	16	8	14	2	1	1	1	1	0	0	5	1	4	1	5	1	2	2	5	1	0	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:164466767G>C	ENST00000503008.1	-	7	1528	c.552C>G	c.(550-552)atC>atG	p.I184M	MARCH1_ENST00000339875.5_Missense_Mutation_p.I167M|MARCH1_ENST00000274056.7_Missense_Mutation_p.I184M|MARCH1_ENST00000514618.1_Missense_Mutation_p.I440M	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	184					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGCCTTGCTTGATTTCCTCCG	0.438													3	39					0	0	0	0	C	164466767	G	C	164466767	3	2	198	1	0	0	0	0	1	0	0	0	9367	1280	45	2	325	2	MARCH1	4	164466767	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	11219456	164466767	26687509	81	35397											
TLL1	7092	broad.mit.edu	37	chr4	166795090	166795090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctttccccgaggatgctcGtgtggctggtggcctcgggg	2	10	17	12	4	0	0	0	0	0	0	3	2	1	1	3	6	1	3	3	6	0	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:166795090G>A	ENST00000061240.2	+	1	681	c.34G>A	c.(34-36)Gtg>Atg	p.V12M	TLL1_ENST00000507499.1_Missense_Mutation_p.V12M|TLL1_ENST00000513213.1_Missense_Mutation_p.V12M	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	12					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAGGATGCTCGTGTGGCTGGT	0.592													8	120					0	0	0	0	A	166795090	G	A	166795090	3	1	198	1	0	0	0	0	1	0	0	0	16039	1145	40	1	36	1	TLL1	4	166795090	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	2328323	166795090	24359186	82	35398											
GPM6A	2823	broad.mit.edu	37	chr4	176573010	176573010	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgaaggtccaagcagagAtttgctccctccactaatgt	11	10	9	11	1	0	2	0	1	0	1	3	4	3	2	3	1	2	2	3	1	3	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:176573010A>G	ENST00000280187.7	-	5	561	c.516T>C	c.(514-516)aaT>aaC	p.N172N	GPM6A_ENST00000393658.2_Silent_p.N172N|GPM6A_ENST00000515090.1_Silent_p.N165N|GPM6A_ENST00000506894.1_Silent_p.N161N	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	172						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CCAAGCAGAGATTTGCTCCCT	0.463													10	74					0	0	0	0	G	176573010	A	G	176573010	2	3	198	1	0	0	0	0	0	0	0	1	6664	330	12	5		5	GPM6A	4	176573010	Silent	SNP	A	TCGA-CR-7371-01A-11D-2012-08	9777920	176573010	14581266	83	35399											
SDHA	6389	broad.mit.edu	37	chr5	228381	228381	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggagtgccgtggtgtcAtcgcactgtgcatagaggac	8	9	16	8	2	1	1	1	0	0	1	2	3	1	3	1	4	2	2	1	4	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:228381A>T	ENST00000264932.6	+	6	818	c.703A>T	c.(703-705)Atc>Ttc	p.I235F	SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	235					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCGTGGTGTCATCGCACTGTG	0.428									Familial Paragangliomas				3	38					0	0	0	0	T	228381	A	T	228381	3	4	198	1	0	0	0	0	1	0	0	0	14050	217	8	5	725	5	SDHA	5	228381	Missense_Mutation	SNP	A	TCGA-CR-7371-01A-11D-2012-08		228381	180686879	84	35400											
ADCY2	108	broad.mit.edu	37	chr5	7717278	7717278	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcatatagaaccaagtCacaaaagaagagatttgaag	18	11	7	5	0	2	4	2	1	0	3	2	5	2	4	1	0	1	0	1	0	8	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:7717278C>A	ENST00000338316.4	+	12	1720	c.1631C>A	c.(1630-1632)tCa>tAa	p.S544*	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Nonsense_Mutation_p.S364*	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	544					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGAACCAAGTCACAAAAGAAG	0.269													5	50					8.12818e-05	0.00016559	1	0	A	7717278	C	A	7717278	4	1	198	1	0	0	0	0	0	1	0	0	294	838	29	2	1677	2	ADCY2	5	7717278	Nonsense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	7488897	7717278	173197982	85	35401											
CTNND2	1501	broad.mit.edu	37	chr5	11236806	11236806	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccaaggagcactgacctcGgctttaattttgttgtctcc	8	14	8	11	1	1	1	0	1	1	0	4	2	2	2	3	2	1	3	3	2	2	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:11236806G>T	ENST00000304623.8	-	10	1947	c.1758C>A	c.(1756-1758)gcC>gcA	p.A586A	CTNND2_ENST00000503622.1_Silent_p.A249A|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.A495A|CTNND2_ENST00000458100.2_Silent_p.A153A|CTNND2_ENST00000359640.2_Silent_p.A586A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	586					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CACTGACCTCGGCTTTAATTT	0.443													27	115					2.79863e-10	6.25001e-10	1	0	T	11236806	G	T	11236806	2	4	198	1	0	0	0	0	0	0	0	1	4052	1103	39	3		3	CTNND2	5	11236806	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	3519528	11236806	169678454	86	35402											
PARP8	79668	broad.mit.edu	37	chr5	50092850	50092850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcattccagtacgagaccGtggcttcctggtgcaggtat	8	11	12	10	2	0	1	0	0	0	1	2	2	2	1	3	3	3	5	3	3	2	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:50092850G>A	ENST00000281631.5	+	13	1621	c.1463G>A	c.(1462-1464)cGt>cAt	p.R488H	PARP8_ENST00000503750.2_Missense_Mutation_p.R488H|PARP8_ENST00000514342.2_Missense_Mutation_p.R241H|PARP8_ENST00000505554.1_Missense_Mutation_p.R467H|PARP8_ENST00000505697.2_Missense_Mutation_p.R488H|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.R488H	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	488						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GTACGAGACCGTGGCTTCCTG	0.308													8	20					0	0	0	0	A	50092850	G	A	50092850	3	1	198	1	0	0	0	0	1	0	0	0	11536	1145	40	1	1513	1	PARP8	5	50092850	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	38856044	50092850	130822410	87	35403											
HTR1A	3350	broad.mit.edu	37	chr5	63256365	63256365	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtaaatgacggggttaagCagagagttggagtagcccag	12	7	16	6	2	0	2	0	1	0	1	0	4	0	3	1	3	2	5	1	3	4	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:63256365C>A	ENST00000323865.3	-	1	1415	c.1182G>T	c.(1180-1182)ctG>ctT	p.L394L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	394					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CGGGGTTAAGCAGAGAGTTGG	0.498													47	159					4.01344e-20	9.8535e-20	1	0	A	63256365	C	A	63256365	2	1	198	1	0	0	0	0	0	0	0	1	7489	697	25	4		4	HTR1A	5	63256365	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	13163515	63256365	117658895	88	35404											
HTR1A	3350	broad.mit.edu	37	chr5	63256923	63256923	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagaaccagcatgagcagCagcgggatgtagaaagctcc	14	5	13	9	1	0	3	0	1	0	2	1	5	1	4	2	1	6	5	2	1	4	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:63256923C>A	ENST00000323865.3	-	1	857	c.624G>T	c.(622-624)ctG>ctT	p.L208L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	208					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCATGAGCAGCAGCGGGATGT	0.592													37	122					2.66277e-13	6.31479e-13	1	0	A	63256923	C	A	63256923	2	1	198	1	0	0	0	0	0	0	0	1	7489	697	25	4		4	HTR1A	5	63256923	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	558	63256923	117658337	89	35405											
MSH3	4437	broad.mit.edu	37	chr5	79966002	79966002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgcttccaaatcagctaaCaaacggtccaaaagcatcta	16	8	5	12	1	2	0	1	0	1	0	4	0	4	0	2	1	5	3	2	1	6	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:79966002C>G	ENST00000265081.6	+	4	746	c.666C>G	c.(664-666)aaC>aaG	p.N222K		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	222	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AATCAGCTAACAAACGGTCCA	0.378								Mismatch excision repair (MMR)					8	22					0	0	0	0	G	79966002	C	G	79966002	3	3	198	1	0	0	0	0	1	0	0	0	9941	477	17	4	680	4	MSH3	5	79966002	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	16709079	79966002	100949258	90	35406											
GPR150	285601	broad.mit.edu	37	chr5	94957182	94957182	+	Frame_Shift_Del	DEL	T	T	-																															cgccaacgctggccccacccTcattatcaccatgctcggcg																										TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:94957182delT	ENST00000380007.2	+	1	1401	c.1203delT	c.(1201-1203)ccfs	p.P401fs		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	401						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		GGCCCCACCCTCATTATCACC	0.726													2	4	---	---	---	---					-	94957182	T	-	94957182	7	5	198	1	0	1	0	1	0	0	0	0	6705	1538	54	0	1205	0	GPR150	5	94957182	Frame_Shift_Del	DEL	T	TCGA-CR-7371-01A-11D-2012-08	14991180	94957182	85958078	91	35407											
SRFBP1	153443	broad.mit.edu	37	chr5	121355833	121355833	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgttgctgaagttgagTcatcaaagaatgcttcagag	15	11	10	5	0	3	4	3	2	0	2	3	4	3	4	0	0	2	4	0	0	5	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:121355833T>A	ENST00000339397.4	+	6	475	c.403T>A	c.(403-405)Tca>Aca	p.S135T		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TGAAGTTGAGTCATCAAAGAA	0.368													12	31					0	0	0	0	A	121355833	T	A	121355833	3	1	198	1	0	0	0	0	1	0	0	0	15234	1667	58	5	425	5	SRFBP1	5	121355833	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	26398651	121355833	59559427	92	35408											
PCDHB16	57717	broad.mit.edu	37	chr5	140562680	140562680	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctcatttccgggttctaatCcatgaattcagagatggcag	10	13	9	9	1	3	2	2	1	2	1	6	3	5	2	2	2	0	2	2	2	2	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:140562680C>T	ENST00000361016.2	+	1	1701	c.546C>T	c.(544-546)atC>atT	p.I182I		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		182	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGTTCTAATCCATGAATTCA	0.458													12	33					0	0	0	0	T	140562680	C	T	140562680	2	4	198	1	0	0	0	0	0	0	0	1	11612	845	30	2		2	PCDHB16	5	140562680	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	19206847	140562680	40352580	93	35409											
PCDHB16	57717	broad.mit.edu	37	chr5	140563947	140563947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgcctggctgtcgtacCagctgctcaaggccacggag	9	7	13	12	2	1	1	1	0	0	1	2	2	1	2	3	3	4	4	3	3	3	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:140563947C>A	ENST00000361016.2	+	1	2968	c.1813C>A	c.(1813-1815)Cag>Aag	p.Q605K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		605	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCGTACCAGCTGCTCAA	0.706													35	101					2.87052e-16	6.91452e-16	1	0	A	140563947	C	A	140563947	3	1	198	1	0	0	0	0	1	0	0	0	11612	595	21	4	1815	4	PCDHB16	5	140563947	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	1267	140563947	40351313	94	35410											
ARAP3	64411	broad.mit.edu	37	chr5	141033762	141033762	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggggcctggagggggctCaggtggcctctcctcctggc	3	7	19	12	0	2	0	1	0	1	0	4	1	3	1	4	9	0	1	4	9	0	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:141033762C>G	ENST00000239440.4	-	33	4455	c.4390G>C	c.(4390-4392)Gag>Cag	p.E1464Q	ARAP3_ENST00000508305.1_Missense_Mutation_p.E1295Q|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.E1113Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1464	Pro-rich.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGAGGGGGCTCAGGTGGCCTC	0.612													15	48					0	0	0	0	G	141033762	C	G	141033762	3	3	198	1	0	0	0	0	1	0	0	0	842	835	29	2	248	2	ARAP3	5	141033762	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	469815	141033762	39881498	95	35411											
PCDH1	5097	broad.mit.edu	37	chr5	141233941	141233941	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcatgtgtcagagtggccaAactcactgcactcccgggta	10	8	11	12	1	2	1	2	0	0	1	3	1	3	1	2	2	3	3	2	2	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:141233941A>T	ENST00000287008.3	-	5	3527	c.3380T>A	c.(3379-3381)tTt>tAt	p.F1127Y	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AGAGTGGCCAAACTCACTGCA	0.587													8	21					0	0	0	0	T	141233941	A	T	141233941	3	4	198	1	0	0	0	0	1	0	0	0	11577	14	1	5	337	5	PCDH1	5	141233941	Missense_Mutation	SNP	A	TCGA-CR-7371-01A-11D-2012-08	200179	141233941	39681319	96	35412											
DOCK2	1794	broad.mit.edu	37	chr5	169484632	169484632	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgactgcatacaagctgccgGggatcctgcgctggtttgag	7	10	14	10	2	0	2	0	2	0	0	1	3	1	3	2	3	5	4	2	3	2	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:169484632G>C	ENST00000256935.8	+	44	4509	c.4429G>C	c.(4429-4431)Ggg>Cgg	p.G1477R	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.G969R|DOCK2_ENST00000540750.1_Missense_Mutation_p.G538R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1477	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAAGCTGCCGGGGATCCTGCG	0.582													12	43					0	0	0	0	C	169484632	G	C	169484632	3	2	198	1	0	0	0	0	1	0	0	0	4723	1232	43	4	4603	4	DOCK2	5	169484632	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	28250691	169484632	11430628	97	35413											
FLT4	2324	broad.mit.edu	37	chr5	180057697	180057697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtagggcctggcgtctgtGccctcgcagtctcgcaccac	5	8	12	16	3	2	0	0	0	2	0	4	0	2	0	3	2	1	3	3	2	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:180057697G>A	ENST00000261937.6	-	3	336	c.258C>T	c.(256-258)ggC>ggT	p.G86G	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.G86G|FLT4_ENST00000502649.1_Silent_p.G86G	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	86	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCGTCTGTGCCCTCGCAGT	0.632													16	51					0	0	0	0	A	180057697	G	A	180057697	2	1	198	1	0	0	0	0	0	0	0	1	5989	1306	46	4		4	FLT4	5	180057697	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	10573065	180057697	857563	98	35414											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216847	26216847	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggaacccttcttcggagcagGagctgacttagctggttcag	8	10	13	10	1	2	1	1	1	1	0	3	4	2	4	1	4	4	4	1	4	2	4	rs149681157		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:26216847G>C	ENST00000244601.3	-	1	25	c.25C>G	c.(25-27)Cct>Gct	p.P9A		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	9					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TTCGGAGCAGGAGCTGACTTA	0.483													11	67					0	0	0	0	C	26216847	G	C	26216847	3	2	198	1	0	0	0	0	1	0	0	0	7196	1174	41	2	359	2	HIST1H2BG	6	26216847	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08		26216847	144898220	99	35415											
TNXB	7148	broad.mit.edu	37	chr6	32036752	32036752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggagttgcccgtctctatCtgtgtactggatttcgaagg	6	15	12	8	2	2	0	0	0	2	0	4	3	2	2	1	3	2	2	1	3	3	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:32036752C>G	ENST00000375244.3	-	16	5950	c.5749G>C	c.(5749-5751)Gat>Cat	p.D1917H	TNXB_ENST00000375247.2_Missense_Mutation_p.D1917H			P22105	TENX_HUMAN	tenascin XB	1999	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGTCTCTATCTGTGTACTGG	0.552													17	61					0	0	0	0	G	32036752	C	G	32036752	3	3	198	1	0	0	0	0	1	0	0	0	16440	913	32	2	9080	2	TNXB	6	32036752	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	5819905	32036752	139078315	100	35416											
DNAH8	1769	broad.mit.edu	37	chr6	38834618	38834618	+	Frame_Shift_Del	DEL	T	T	-																															ggctcaaaaattttacgttcTttacaaactctgtgaagagc																										TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:38834618delT	ENST00000359357.3	+	45	6262	c.6008delT	c.(6007-6009)ctfs	p.L2003fs	DNAH8_ENST00000441566.1_Intron|DNAH8_ENST00000449981.2_Frame_Shift_Del_p.L2220fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTTACGTTCTTTACAAACTC	0.303													10	18	---	---	---	---					-	38834618	T	-	38834618	7	5	198	1	0	1	0	1	0	0	0	0	4643	1609	56	0	6178	0	DNAH8	6	38834618	Frame_Shift_Del	DEL	T	TCGA-CR-7371-01A-11D-2012-08	6797866	38834618	132280449	101	35417											
APOBEC2	10930	broad.mit.edu	37	chr6	41029282	41029282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccttcgacccagccctgcGgtacaatgtcacctggtatg	8	9	10	14	2	1	0	1	0	0	0	2	1	1	0	4	2	4	2	4	2	3	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:41029282G>A	ENST00000244669.2	+	2	391	c.347G>A	c.(346-348)cGg>cAg	p.R116Q		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	116					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	p.R116Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGCCCTGCGGTACAATGTC	0.562													13	155					0	0	0	0	A	41029282	G	A	41029282	3	1	198	1	0	0	0	0	1	0	0	0	790	1116	39	1	353	1	APOBEC2	6	41029282	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	2194664	41029282	130085785	102	35418											
GUCA1A	2978	broad.mit.edu	37	chr6	42146620	42146620	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgttctccaagattgaCgtcaacggggatggtgaggg	10	9	15	7	2	2	3	1	2	1	1	3	4	2	4	1	4	1	1	1	4	2	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:42146620C>T	ENST00000394237.1	+	5	1408	c.432C>T	c.(430-432)gaC>gaT	p.D144D	GUCA1A_ENST00000372958.1_Silent_p.D144D|GUCA1A_ENST00000541991.1_Silent_p.D144D|GUCA1A_ENST00000053469.4_Silent_p.D144D			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	144	EF-hand 4.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAAGATTGACGTCAACGGGG	0.607													28	70					0	0	0	0	T	42146620	C	T	42146620	2	4	198	1	0	0	0	0	0	0	0	1	6938	535	19	1		1	GUCA1A	6	42146620	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	1117338	42146620	128968447	103	35419											
BAI3	577	broad.mit.edu	37	chr6	70040462	70040462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcagccgctgttgtcCtggtaaacatcaaaatcaac	12	9	8	12	1	2	0	2	0	0	0	3	1	3	0	3	1	4	4	3	1	5	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:70040462C>T	ENST00000370598.1	+	23	3921	c.3100C>T	c.(3100-3102)Ctg>Ttg	p.L1034L	BAI3_ENST00000238918.8_Silent_p.L240L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1034					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CGCTGTTGTCCTGGTAAACAT	0.353													5	26					0	0	0	0	T	70040462	C	T	70040462	2	4	198	1	0	0	0	0	0	0	0	1	1304	680	24	4		4	BAI3	6	70040462	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	27893842	70040462	101074605	104	35420											
FUT9	10690	broad.mit.edu	37	chr6	96651056	96651056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcaacatccaaaggaattCttcgcccatttttaattgtc	12	14	4	11	1	2	0	1	0	1	0	5	1	3	1	2	1	1	0	2	1	4	6			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:96651056C>G	ENST00000302103.5	+	3	351	c.25C>G	c.(25-27)Ctt>Gtt	p.L9V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	9					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CAAAGGAATTCTTCGCCCATT	0.393													15	69					0	0	0	0	G	96651056	C	G	96651056	3	3	198	1	0	0	0	0	1	0	0	0	6159	913	32	2	27	2	FUT9	6	96651056	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	26610594	96651056	74464011	105	35421											
FUT9	10690	broad.mit.edu	37	chr6	96651727	96651727	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatgataaaaatttgatTcctaccatatctacttgtaa	15	15	4	7	0	2	2	1	2	1	0	3	2	3	2	2	0	2	1	2	0	8	8			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:96651727T>C	ENST00000302103.5	+	3	1022	c.696T>C	c.(694-696)atT>atC	p.I232I		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	232					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AAAATTTGATTCCTACCATAT	0.358													5	21					0	0	0	0	C	96651727	T	C	96651727	2	2	198	1	0	0	0	0	0	0	0	1	6159	1771	62	5		5	FUT9	6	96651727	Silent	SNP	T	TCGA-CR-7371-01A-11D-2012-08	671	96651727	74463340	106	35422											
TMEM200A	114801	broad.mit.edu	37	chr6	130762242	130762242	+	Silent	SNP	C	C	G																															agttttcgaatggacagctcCgtggaggaggatgaacttat																										TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:130762242C>G	ENST00000392429.1	+	2	3053	c.675C>G	c.(673-675)tcC>tcG	p.S225S	TMEM200A_ENST00000296978.3_Silent_p.S225S|TMEM200A_ENST00000545622.1_Silent_p.S225S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	225						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGGACAGCTCCGTGGAGGAGG	0.488													6	44					0	0	0	0	G	130762242	C	G	130762242	2	3	198	1	0	0	0	0	0	0	0	1	16217	639	23	3		3	TMEM200A	6	130762242	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	34110515	130762242	40352825	107	35423	276	2									
TMEM200A	114801	broad.mit.edu	37	chr6	130762243	130762243	+	Missense_Mutation	SNP	G	G	T																															gttttcgaatggacagctccGtggaggaggatgaacttatg																										TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:130762243G>T	ENST00000392429.1	+	2	3054	c.676G>T	c.(676-678)Gtg>Ttg	p.V226L	TMEM200A_ENST00000296978.3_Missense_Mutation_p.V226L|TMEM200A_ENST00000545622.1_Missense_Mutation_p.V226L	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	226						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GGACAGCTCCGTGGAGGAGGA	0.488													6	44					3.59834e-05	7.42945e-05	1	0	T	130762243	G	T	130762243	3	4	198	1	0	0	0	0	1	0	0	0	16217	1145	40	3	678	3	TMEM200A	6	130762243	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1	130762243	40352824	108	35424	276	2									
TAAR6	319100	broad.mit.edu	37	chr6	132891511	132891511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagctgtgctacgcgaaCgtgaatgggtcctgtgtgaa	8	10	15	8	3	0	2	0	2	0	0	1	3	1	2	1	1	5	3	1	1	4	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:132891511C>A	ENST00000275198.1	+	1	51	c.51C>A	c.(49-51)aaC>aaA	p.N17K		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	17						plasma membrane	G-protein coupled receptor activity	p.N17K(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GCTACGCGAACGTGAATGGGT	0.493													18	76					2.35188e-11	5.42633e-11	1	0	A	132891511	C	A	132891511	3	1	198	1	0	0	0	0	1	0	0	0	15583	535	19	3	53	3	TAAR6	6	132891511	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	2129268	132891511	38223556	109	35425											
TAAR1	134864	broad.mit.edu	37	chr6	132966284	132966284	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaaaccaaatcaatacatCattcaaagtaggtggaataa	19	8	6	8	0	3	0	3	0	0	0	3	1	3	1	2	2	2	1	2	2	8	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:132966284C>G	ENST00000275216.1	-	1	858	c.859G>C	c.(859-861)Gat>Cat	p.D287H		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	287						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	ATCAATACATCATTCAAAGTA	0.373													10	45					0	0	0	0	G	132966284	C	G	132966284	3	3	198	1	0	0	0	0	1	0	0	0	15580	826	29	2	164	2	TAAR1	6	132966284	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	74773	132966284	38148783	110	35426											
EYA4	2070	broad.mit.edu	37	chr6	133802716	133802716	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaaaaataatccctccccGcctcctgatagtgacctgga	11	8	8	14	2	0	2	0	2	0	0	3	4	3	4	6	2	0	0	6	2	4	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:133802716G>T	ENST00000367895.5	+	12	1550	c.1086G>T	c.(1084-1086)ccG>ccT	p.P362P	EYA4_ENST00000431403.2_Silent_p.P362P|EYA4_ENST00000525849.1_Silent_p.P339P|EYA4_ENST00000430974.2_Silent_p.P314P|EYA4_ENST00000355286.6_Silent_p.P339P|EYA4_ENST00000355167.3_Silent_p.P362P|EYA4_ENST00000452339.2_Silent_p.P308P|EYA4_ENST00000531901.1_Silent_p.P368P	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	362					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ATCCCTCCCCGCCTCCTGATA	0.448													23	82					7.41877e-09	1.63298e-08	1	0	T	133802716	G	T	133802716	2	4	198	1	0	0	0	0	0	0	0	1	5369	1074	38	3		3	EYA4	6	133802716	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	836432	133802716	37312351	111	35427											
SYNE1	23345	broad.mit.edu	37	chr6	152554980	152554980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtccactggctatcaatgCgcgacagctcagagcgcagc	10	6	11	14	3	2	1	2	0	0	1	3	2	3	1	1	1	4	3	1	1	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:152554980C>T	ENST00000367255.5	-	112	21249	c.20648G>A	c.(20647-20649)cGc>cAc	p.R6883H	SYNE1_ENST00000356820.4_Missense_Mutation_p.R1407H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6812H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6812H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6495H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6883H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6883					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTATCAATGCGCGACAGCTC	0.512										HNSCC(10;0.0054)			10	39					0	0	0	0	T	152554980	C	T	152554980	3	4	198	1	0	0	0	0	1	0	0	0	15536	768	27	1	5958	1	SYNE1	6	152554980	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	18752264	152554980	18560087	112	35428											
RSPH3	83861	broad.mit.edu	37	chr6	159420840	159420840	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagcaacccagggttctgtCtgggggcgggaactccgggc	6	6	16	13	2	2	0	0	0	2	0	3	1	3	1	3	5	3	2	3	5	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:159420840C>G	ENST00000252655.1	-	1	358	c.169G>C	c.(169-171)Gac>Cac	p.D57H	RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000297262.3_Missense_Mutation_p.D57H	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	57										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AGGGTTCTGTCTGGGGGCGGG	0.682													13	66					0	0	0	0	G	159420840	C	G	159420840	3	3	198	1	0	0	0	0	1	0	0	0	13790	913	32	2	1545	2	RSPH3	6	159420840	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	6865860	159420840	11694227	113	35429											
COL28A1	340267	broad.mit.edu	37	chr7	7412695	7412695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtagcaattagattcatttCtttgtggaatatttcaaagt	13	17	7	4	0	3	1	2	0	1	1	3	2	3	2	0	1	1	2	0	1	6	7			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:7412695C>G	ENST00000399429.3	-	32	2982	c.2842G>C	c.(2842-2844)Gaa>Caa	p.E948Q		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	948	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGATTCATTTCTTTGTGGAAT	0.428													8	39					0	0	0	0	G	7412695	C	G	7412695	3	3	198	1	0	0	0	0	1	0	0	0	3716	922	32	2	551	2	COL28A1	7	7412695	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08		7412695	151725968	114	35430											
PKD1L1	168507	broad.mit.edu	37	chr7	47913505	47913505	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttactcacaggtcctcGcccagacagtcatttccatg	8	12	8	13	1	2	1	2	0	0	1	5	1	4	1	3	1	1	1	3	1	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:47913505G>A	ENST00000289672.2	-	24	3938	c.3888C>T	c.(3886-3888)ggC>ggT	p.G1296G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1296	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGGTCCTCGCCCAGACAGT	0.502													6	42					0	0	0	0	A	47913505	G	A	47913505	2	1	198	1	0	0	0	0	0	0	0	1	12036	1074	38	1		1	PKD1L1	7	47913505	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	40500810	47913505	111225158	115	35431											
EGFR	1956	broad.mit.edu	37	chr7	55221793	55221793	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacgtaccagatggatgtGaaccccgagggcaaatacag	14	5	11	11	2	0	2	0	1	0	1	0	4	0	3	4	2	3	2	4	2	4	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:55221793G>A	ENST00000275493.2	+	7	1014	c.837G>A	c.(835-837)gtG>gtA	p.V279V	EGFR_ENST00000344576.2_Silent_p.V279V|EGFR_ENST00000342916.3_Silent_p.V279V|EGFR_ENST00000455089.1_Silent_p.V234V|EGFR_ENST00000420316.2_Silent_p.V279V|EGFR_ENST00000454757.2_Silent_p.V226V|EGFR_ENST00000442591.1_Silent_p.V279V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	279					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGATGGATGTGAACCCCGAGG	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			7	67					0	0	0	0	A	55221793	G	A	55221793	2	1	198	1	0	0	0	0	0	0	0	1	5003	1277	45	2		2	EGFR	7	55221793	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	7308288	55221793	103916870	116	35432											
AKAP9	10142	broad.mit.edu	37	chr7	91730347	91730347	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttcaaactctgagccctGattctgaacatgtcacttta	11	14	5	11	0	4	3	2	3	2	0	4	3	4	3	1	0	4	0	1	0	4	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:91730347G>C	ENST00000359028.2	+	45	11311	c.11086G>C	c.(11086-11088)Gat>Cat	p.D3696H	AKAP9_ENST00000358100.2_Missense_Mutation_p.D3642H|AKAP9_ENST00000356239.3_Missense_Mutation_p.D3692H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3696					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCTGAGCCCTGATTCTGAACA	0.383			T	BRAF	papillary thyroid								7	29					0	0	0	0	C	91730347	G	C	91730347	3	2	198	1	0	0	0	0	1	0	0	0	459	1290	45	2	11252	2	AKAP9	7	91730347	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	36508554	91730347	67408316	117	35433											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99124010	99124010	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgcatctgatcgaacacctAaaacgccacttcagggagaa	14	7	8	12	3	2	2	1	1	1	1	4	4	2	2	2	1	2	1	2	1	4	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:99124010A>G	ENST00000394170.2	+	6	1598	c.1347A>G	c.(1345-1347)ctA>ctG	p.L449L	ZKSCAN5_ENST00000451158.1_Silent_p.L449L|ZKSCAN5_ENST00000326775.5_Silent_p.L449L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	449					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCGAACACCTAAAACGCCACT	0.502													54	173					0	0	0	0	G	99124010	A	G	99124010	2	3	198	1	0	0	0	0	0	0	0	1	17785	349	13	5		5	ZKSCAN5	7	99124010	Silent	SNP	A	TCGA-CR-7371-01A-11D-2012-08	7393663	99124010	60014653	118	35434											
MUC17	140453	broad.mit.edu	37	chr7	100679091	100679091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatacctgtcagcaacaCgccggtggccaattctgagg	11	8	11	11	2	2	1	1	1	1	0	2	1	2	1	3	3	3	2	3	3	5	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:100679091C>A	ENST00000306151.4	+	3	4458	c.4394C>A	c.(4393-4395)aCg>aAg	p.T1465K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1465	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCAACACGCCGGTGGCC	0.473													80	288					5.41795e-27	1.35184e-26	1	0	A	100679091	C	A	100679091	3	1	198	1	0	0	0	0	1	0	0	0	10044	536	19	3	4404	3	MUC17	7	100679091	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	1555081	100679091	58459572	119	35435											
FBXL13	222235	broad.mit.edu	37	chr7	102665637	102665637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcttttgagtattaacCtatttttccattttttcaat	9	21	3	8	0	2	1	1	1	1	0	3	1	3	1	2	0	2	2	2	0	4	10			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:102665637C>A	ENST00000393772.2	-	6	794	c.368G>T	c.(367-369)aGg>aTg	p.R123M	FBXL13_ENST00000379305.3_Missense_Mutation_p.R123M|FBXL13_ENST00000456695.1_Missense_Mutation_p.R123M|FBXL13_ENST00000455112.2_Missense_Mutation_p.R123M|FBXL13_ENST00000379306.3_Missense_Mutation_p.R123M|FBXL13_ENST00000313221.4_Missense_Mutation_p.R123M|FBXL13_ENST00000436908.1_Missense_Mutation_p.R123M|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379308.3_Missense_Mutation_p.R123M			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	123										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GAGTATTAACCTATTTTTCCA	0.318													8	19					0.000442599	0.000894541	1	0	A	102665637	C	A	102665637	3	1	198	1	0	0	0	0	1	0	0	0	5754	681	24	4	1899	4	FBXL13	7	102665637	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	1986546	102665637	56473026	120	35436											
RELN	5649	broad.mit.edu	37	chr7	103237037	103237037	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcactctctccgcctatCtggatgtagaactggacaaa	12	9	9	11	1	2	1	0	0	2	1	4	4	3	3	2	2	2	2	2	2	5	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:103237037C>A	ENST00000424685.2	-	25	3564	c.3405G>T	c.(3403-3405)caG>caT	p.Q1135H	RELN_ENST00000428762.1_Missense_Mutation_p.Q1135H|RELN_ENST00000343529.5_Missense_Mutation_p.Q1135H			P78509	RELN_HUMAN	reelin	1135					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCCGCCTATCTGGATGTAGA	0.502													24	102					4.72057e-08	1.03019e-07	1	0	A	103237037	C	A	103237037	3	1	198	1	0	0	0	0	1	0	0	0	13302	912	32	2	7141	2	RELN	7	103237037	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	571400	103237037	55901626	121	35437											
HYAL4	23553	broad.mit.edu	37	chr7	123516942	123516942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcataaggaagatgtggaaCgcgcccagttaccttcactt	11	10	10	10	2	1	1	1	0	0	1	1	3	1	3	2	2	3	2	2	2	4	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:123516942C>T	ENST00000223026.4	+	5	1817	c.1179C>T	c.(1177-1179)aaC>aaT	p.N393N	HYAL4_ENST00000476325.1_Silent_p.N393N	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	393					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGATGTGGAACGCGCCCAGTT	0.507													10	60					0	0	0	0	T	123516942	C	T	123516942	2	4	198	1	0	0	0	0	0	0	0	1	7519	535	19	1		1	HYAL4	7	123516942	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	20279905	123516942	35621721	122	35438											
OR2A14	135941	broad.mit.edu	37	chr7	143826781	143826781	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggcctgtgctgacacctgGctcaaccaggtggtcatctt	6	12	11	12	0	3	1	2	1	1	0	3	1	3	1	3	4	2	2	3	4	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:143826781G>C	ENST00000408899.2	+	1	631	c.576G>C	c.(574-576)tgG>tgC	p.W192C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CTGACACCTGGCTCAACCAGG	0.562													48	240					0	0	0	0	C	143826781	G	C	143826781	3	2	198	1	0	0	0	0	1	0	0	0	11047	1212	42	4	578	4	OR2A14	7	143826781	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	20309839	143826781	15311882	123	35439											
SSPO	23145	broad.mit.edu	37	chr7	149486333	149486333	+	RNA	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggccctgctctgtgacCgccaggatgactgtggagat	6	9	13	13	1	1	3	0	2	1	1	1	5	1	4	4	3	1	1	4	3	0	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:149486333C>A	ENST00000378016.2	+	0	4309							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTCTGTGACCGCCAGGATGA	0.687													6	29					0.00198382	0.00390644	1	0	A	149486333	C	A	149486333	1	1	198	0	1	0	0	0	0	0	0	0	15279	652	23	3		3	SSPO	7	149486333	RNA	SNP	C	TCGA-CR-7371-01A-11D-2012-08	5659552	149486333	9652330	124	35440											
RARRES2	5919	broad.mit.edu	37	chr7	150036164	150036164	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcaggccaggcatttccGtttcctctgtgggggagcgg	5	10	16	10	2	1	0	0	0	1	0	3	2	3	1	3	5	2	3	3	5	0	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:150036164G>C	ENST00000466675.1	-	3	1319	c.286C>G	c.(286-288)Cgg>Ggg	p.R96G	RARRES2_ENST00000223271.3_Missense_Mutation_p.R96G|RARRES2_ENST00000482669.1_Missense_Mutation_p.R96G			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	96					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGGCATTTCCGTTTCCTCTGT	0.617													18	76					0	0	0	0	C	150036164	G	C	150036164	3	2	198	1	0	0	0	0	1	0	0	0	13138	1144	40	3	213	3	RARRES2	7	150036164	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	549831	150036164	9102499	125	35441											
ARHGEF10	9639	broad.mit.edu	37	chr8	1876769	1876769	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccccgagaccccggccgtGagagcttctgatgtccccac	7	6	11	17	3	1	3	0	2	1	2	2	6	2	3	7	1	1	1	7	1	0	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:1876769G>C	ENST00000518288.1	+	25	3109	c.2946G>C	c.(2944-2946)gtG>gtC	p.V982V	ARHGEF10_ENST00000262112.6_Silent_p.V954V|ARHGEF10_ENST00000398564.1_Silent_p.V983V|ARHGEF10_ENST00000349830.3_Silent_p.V958V|ARHGEF10_ENST00000520359.1_Silent_p.V920V			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	983					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCCCGGCCGTGAGAGCTTCTG	0.612													6	60					0	0	0	0	C	1876769	G	C	1876769	2	2	198	1	0	0	0	0	0	0	0	1	896	1277	45	2		2	ARHGEF10	8	1876769	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08		1876769	144487253	126	35442											
CSMD1	64478	broad.mit.edu	37	chr8	3256980	3256980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccattcacaatgtaaagaatCcttataatatcctggccatc	14	12	4	11	0	1	1	1	0	0	1	4	1	3	1	4	1	0	1	4	1	7	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:3256980C>G	ENST00000520002.1	-	17	2896	c.2341G>C	c.(2341-2343)Gat>Cat	p.D781H	CSMD1_ENST00000539096.1_Missense_Mutation_p.D780H|CSMD1_ENST00000542608.1_Missense_Mutation_p.D780H|CSMD1_ENST00000400186.3_Missense_Mutation_p.D781H|CSMD1_ENST00000602557.1_Missense_Mutation_p.D781H|CSMD1_ENST00000602723.1_Missense_Mutation_p.D781H|CSMD1_ENST00000537824.1_Missense_Mutation_p.D780H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	781	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTAAAGAATCCTTATAATAT	0.388													12	48					0	0	0	0	G	3256980	C	G	3256980	3	3	198	1	0	0	0	0	1	0	0	0	3976	855	30	2	8576	2	CSMD1	8	3256980	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	1380211	3256980	143107042	127	35443											
PNOC	5368	broad.mit.edu	37	chr8	28196682	28196682	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcatgtggcggctgctctCtaccagccgagagcttcgga	7	8	14	12	3	1	1	0	0	1	1	3	4	1	2	2	3	5	4	2	3	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:28196682C>T	ENST00000301908.3	+	3	460	c.252C>T	c.(250-252)ctC>ctT	p.L84L	RP11-380I10.4_ENST00000521731.1_RNA|PNOC_ENST00000522209.1_Silent_p.L20L	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	84					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CGGCTGCTCTCTACCAGCCGA	0.652													12	63					0	0	0	0	T	28196682	C	T	28196682	2	4	198	1	0	0	0	0	0	0	0	1	12234	900	32	2		2	PNOC	8	28196682	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	24939702	28196682	118167340	128	35444											
TEX15	56154	broad.mit.edu	37	chr8	30695362	30695362	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatgctatttaaatttTcctgttgtccactgaagtga	9	18	6	8	0	2	2	1	2	1	0	4	2	4	2	2	0	1	2	2	0	4	7			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:30695362T>A	ENST00000256246.2	-	3	7363	c.7289A>T	c.(7288-7290)gAa>gTa	p.E2430V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2430										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTTAAATTTTCCTGTTGTCC	0.358													39	157					0	0	0	0	A	30695362	T	A	30695362	3	1	198	1	0	0	0	0	1	0	0	0	15873	1783	62	5	1088	5	TEX15	8	30695362	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	2498680	30695362	115668660	129	35445											
AP3M2	10947	broad.mit.edu	37	chr8	42024827	42024827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaccagccagatgcccaagGgggtcctgaacatgagcctt	10	7	11	13	0	1	3	1	2	0	1	2	3	2	3	5	2	4	0	5	2	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:42024827G>A	ENST00000518421.1	+	8	1240	c.949G>A	c.(949-951)Ggg>Agg	p.G317R	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000396926.3_Missense_Mutation_p.G317R|AP3M2_ENST00000174653.3_Missense_Mutation_p.G317R	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	317	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GATGCCCAAGGGGGTCCTGAA	0.522													11	47					0	0	0	0	A	42024827	G	A	42024827	3	1	198	1	0	0	0	0	1	0	0	0	749	1232	43	4	971	4	AP3M2	8	42024827	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	11329465	42024827	104339195	130	35446											
HOOK3	84376	broad.mit.edu	37	chr8	42868217	42868217	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccgtactttagatcctaaAcagaatcaaggagcagcacc	15	8	7	11	1	1	2	1	0	0	2	3	3	3	3	3	1	4	3	3	1	6	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:42868217A>T	ENST00000307602.4	+	20	2063	c.1863A>T	c.(1861-1863)aaA>aaT	p.K621N	HOOK3_ENST00000524839.1_3'UTR	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	621	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TAGATCCTAAACAGAATCAAG	0.338			T	RET	papillary thyroid								6	22					0	0	0	0	T	42868217	A	T	42868217	3	4	198	1	0	0	0	0	1	0	0	0	7334	40	2	5	1941	5	HOOK3	8	42868217	Missense_Mutation	SNP	A	TCGA-CR-7371-01A-11D-2012-08	843390	42868217	103495805	131	35447											
SNTG1	54212	broad.mit.edu	37	chr8	51617301	51617301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaacctttctagaagtaGaacggatacaggtgagagtc	14	8	11	8	1	1	3	0	1	1	3	2	5	1	4	1	2	4	2	1	2	6	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:51617301G>A	ENST00000522124.1	+	16	1841	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	SNTG1_ENST00000518864.1_Missense_Mutation_p.E394K|SNTG1_ENST00000517473.1_Missense_Mutation_p.E394K|SNTG1_ENST00000276467.5_Missense_Mutation_p.E394K	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	394					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCTAGAAGTAGAACGGATACA	0.507													4	31					0	0	0	0	A	51617301	G	A	51617301	3	1	198	1	0	0	0	0	1	0	0	0	14962	943	33	2	1234	2	SNTG1	8	51617301	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	8749084	51617301	94746721	132	35448											
ST18	9705	broad.mit.edu	37	chr8	53073977	53073977	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccttgcactgtttgtaTgagagggcgtttaccgaaaa	9	13	11	8	3	0	1	0	1	0	1	2	3	1	1	2	1	2	4	2	1	4	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:53073977T>A	ENST00000276480.7	-	14	2235	c.1552A>T	c.(1552-1554)Ata>Tta	p.I518L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	518						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACTGTTTGTATGAGAGGGCGT	0.428													24	78					0	0	0	0	A	53073977	T	A	53073977	3	1	198	1	0	0	0	0	1	0	0	0	15302	1464	51	5	1643	5	ST18	8	53073977	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	1456676	53073977	93290045	133	35449											
RP1	6101	broad.mit.edu	37	chr8	55533682	55533682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccaattcggcggggtcagGgtggtggtcaaccctcgctc	5	8	14	14	3	2	0	2	0	0	0	5	0	2	0	3	6	1	1	3	6	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:55533682G>T	ENST00000220676.1	+	2	304	c.156G>T	c.(154-156)agG>agT	p.R52S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	52	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCGGGGTCAGGGTGGTGGTCA	0.557													15	65					7.93312e-07	1.69269e-06	1	0	T	55533682	G	T	55533682	3	4	198	1	0	0	0	0	1	0	0	0	13617	1223	43	4	158	4	RP1	8	55533682	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	2459705	55533682	90830340	134	35450											
VPS13B	157680	broad.mit.edu	37	chr8	100831006	100831006	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccattatcatacatttggaGaaaaggagtctgggattgag	13	11	11	6	0	2	2	1	1	1	1	2	5	2	4	1	3	1	0	1	3	4	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:100831006G>A	ENST00000358544.2	+	47	8697	c.8586G>A	c.(8584-8586)gaG>gaA	p.E2862E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.E2837E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2862					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACATTTGGAGAAAAGGAGTC	0.373													15	111					0	0	0	0	A	100831006	G	A	100831006	2	1	198	1	0	0	0	0	0	0	0	1	17286	933	33	2		2	VPS13B	8	100831006	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	45297324	100831006	45533016	135	35451											
VPS13B	157680	broad.mit.edu	37	chr8	100831079	100831079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaaccactgcaaaacataGaacctgaccttgtacatcac	18	7	4	12	0	1	2	1	1	0	1	1	2	1	2	3	0	5	2	3	0	7	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:100831079G>A	ENST00000358544.2	+	47	8770	c.8659G>A	c.(8659-8661)Gaa>Aaa	p.E2887K	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E2862K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2887					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCAAAACATAGAACCTGACCT	0.378													13	67					0	0	0	0	A	100831079	G	A	100831079	3	1	198	1	0	0	0	0	1	0	0	0	17286	943	33	2	9035	2	VPS13B	8	100831079	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	73	100831079	45532943	136	35452											
SLC30A8	169026	broad.mit.edu	37	chr8	118183329	118183329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttattttagcagtcgacGgggtgctgtctgtgcacagc	7	12	13	9	2	1	0	0	0	1	0	2	1	1	0	0	2	5	4	0	2	2	3	rs139489847		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:118183329G>T	ENST00000427715.2	+	10	1173	c.739G>T	c.(739-741)Ggg>Tgg	p.G247W	SLC30A8_ENST00000456015.2_Missense_Mutation_p.G296W|SLC30A8_ENST00000521243.1_Missense_Mutation_p.G247W|SLC30A8_ENST00000519688.1_Missense_Mutation_p.G247W	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	296					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.G296R(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGCAGTCGACGGGGTGCTGTC	0.448													14	85					1.49906e-05	3.12883e-05	1	0	T	118183329	G	T	118183329	3	4	198	1	0	0	0	0	1	0	0	0	14649	1116	39	3	912	3	SLC30A8	8	118183329	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	17352250	118183329	28180693	137	35453											
COL14A1	7373	broad.mit.edu	37	chr8	121296005	121296005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attctgacccattggttgggGttattttagacagtaagtat	10	16	10	5	0	1	2	0	1	1	1	1	2	1	2	1	3	0	4	1	3	4	8			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:121296005G>T	ENST00000297848.3	+	32	4225	c.3955G>T	c.(3955-3957)Gtt>Ttt	p.V1319F	COL14A1_ENST00000309791.4_Missense_Mutation_p.V1319F|COL14A1_ENST00000247781.3_Missense_Mutation_p.V1224F	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1319	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATTGGTTGGGGTTATTTTAGA	0.358													13	52					0.00136819	0.00272217	1	0	T	121296005	G	T	121296005	3	4	198	1	0	0	0	0	1	0	0	0	3701	1261	44	4	4077	4	COL14A1	8	121296005	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	3112676	121296005	25068017	138	35454											
FAM135B	51059	broad.mit.edu	37	chr8	139155262	139155262	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtttccttttacctaattcGggatatggagaggttgtaca	9	15	11	6	1	0	1	0	0	0	1	2	3	1	2	2	4	2	3	2	4	4	8			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:139155262G>T	ENST00000395297.1	-	16	3801	c.3631C>A	c.(3631-3633)Cga>Aga	p.R1211R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1211										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TACCTAATTCGGGATATGGAG	0.398										HNSCC(54;0.14)			4	32					1.23904e-05	2.59318e-05	1	0	T	139155262	G	T	139155262	2	4	198	1	0	0	0	0	0	0	0	1	5490	1124	39	3		3	FAM135B	8	139155262	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	17859257	139155262	7208760	139	35455											
FAM135B	51059	broad.mit.edu	37	chr8	139165260	139165260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatatgattttgtgtggcCacattctcacctggctctgg	6	15	9	11	0	2	1	1	1	2	0	4	1	3	1	3	3	0	1	3	3	1	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:139165260C>T	ENST00000395297.1	-	13	1628	c.1458G>A	c.(1456-1458)gtG>gtA	p.V486V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	486										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTGTGTGGCCACATTCTCAC	0.393										HNSCC(54;0.14)			10	78					0	0	0	0	T	139165260	C	T	139165260	2	4	198	1	0	0	0	0	0	0	0	1	5490	581	21	4		4	FAM135B	8	139165260	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	9998	139165260	7198762	140	35456											
COL22A1	169044	broad.mit.edu	37	chr8	139614357	139614357	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgcctgtgctctccactcaCcctttctcctttgaatccag	5	14	6	16	0	3	1	1	1	2	0	6	1	4	1	5	0	2	1	5	0	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:139614357C>A	ENST00000303045.6	-	60	4632		c.e60+1		COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCCACTCACCCTTTCTCCT	0.572										HNSCC(7;0.00092)			20	61					5.35267e-07	1.14529e-06	1	0	A	139614357	C	A	139614357	5	1	198	1	0	0	0	0	0	0	1	0	3711	521	18	4	718	4	COL22A1	8	139614357	Splice_Site	SNP	C	TCGA-CR-7371-01A-11D-2012-08	449097	139614357	6749665	141	35457											
TSNARE1	203062	broad.mit.edu	37	chr8	143425409	143425409	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacctgctccacgggcgtGagagccagggcctggggctt	6	6	15	14	2	0	1	0	1	0	1	1	2	1	1	5	4	2	2	5	4	0	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:143425409G>T	ENST00000524325.1	-	4	838	c.663C>A	c.(661-663)ctC>ctA	p.L221L	TSNARE1_ENST00000520166.1_Silent_p.L221L|TSNARE1_ENST00000307180.3_Silent_p.L221L|TSNARE1_ENST00000519651.1_Intron			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	221					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCACGGGCGTGAGAGCCAGGG	0.706													10	41					1.33987e-11	3.10073e-11	1	0	T	143425409	G	T	143425409	2	4	198	1	0	0	0	0	0	0	0	1	16725	1277	45	2		2	TSNARE1	8	143425409	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	3811052	143425409	2938613	142	35458											
JRK	8629	broad.mit.edu	37	chr8	143747266	143747266	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctgctccagcgccttgttgGagtccgagctggcgaagaac	7	8	14	12	3	0	1	0	0	0	1	2	4	2	2	3	2	4	4	3	2	2	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:143747266G>C	ENST00000507178.2	-	0	544									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				cgccttgttggagtccgagct	0.652													4	19					0	0	0	0	C	143747266	G	C	143747266	1	2	198	0	1	0	0	0	0	0	0	0	8017	1174	41	2		2	JRK	8	143747266	RNA	SNP	G	TCGA-CR-7371-01A-11D-2012-08	321857	143747266	2616756	143	35459											
TSTA3	7264	broad.mit.edu	37	chr8	144696589	144696589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgttggtggggatgacagCggtgaaggtgcagccgtact	8	8	18	7	3	0	2	0	2	0	0	0	4	0	3	1	5	4	3	1	5	2	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:144696589C>T	ENST00000425753.2	-	6	602	c.499G>A	c.(499-501)Gct>Act	p.A167T	TSTA3_ENST00000529064.1_Missense_Mutation_p.A167T	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	167					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	GGGATGACAGCGGTGAAGGTG	0.662													4	38					0	0	0	0	T	144696589	C	T	144696589	3	4	198	1	0	0	0	0	1	0	0	0	16769	768	27	1	490	1	TSTA3	8	144696589	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	949323	144696589	1667433	144	35460											
MPDZ	8777	broad.mit.edu	37	chr9	13168483	13168483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccaatggcaatccggcCatctcgactaatggcacctc	9	8	8	16	2	1	0	0	0	1	0	5	1	3	0	5	3	0	2	5	3	3	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:13168483C>A	ENST00000319217.7	-	22	3383	c.3136G>T	c.(3136-3138)Ggc>Tgc	p.G1046C	MPDZ_ENST00000541718.1_Missense_Mutation_p.G1046C|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1046C|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1046C|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1046C|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1046C|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1046C	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1046	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GCAATCCGGCCATCTCGACTA	0.453													113	129					1.22118e-62	3.06695e-62	1	0	A	13168483	C	A	13168483	3	1	198	1	0	0	0	0	1	0	0	0	9792	594	21	4	3089	4	MPDZ	9	13168483	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08		13168483	128044948	145	35461											
LINGO2	158038	broad.mit.edu	37	chr9	27950478	27950478	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttttagcctgtttttactGaggtccaagattttggtttc	6	20	8	7	0	0	2	0	1	0	1	2	2	1	2	2	2	2	2	2	2	3	9			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:27950478G>A	ENST00000379992.2	-	6	641	c.192C>T	c.(190-192)ctC>ctT	p.L64L	LINGO2_ENST00000308675.3_Silent_p.L64L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	64						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGTTTTTACTGAGGTCCAAGA	0.458													72	94					0	0	0	0	A	27950478	G	A	27950478	2	1	198	1	0	0	0	0	0	0	0	1	8870	1277	45	2		2	LINGO2	9	27950478	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	14781995	27950478	113262953	146	35462											
TAF1L	138474	broad.mit.edu	37	chr9	32631662	32631662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggtttcgaaggtggcaCatttgtttgataatagaggg	12	12	13	4	1	0	2	0	1	0	1	1	3	0	2	0	4	1	3	0	4	4	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:32631662C>T	ENST00000242310.4	-	1	4005	c.3916G>A	c.(3916-3918)Gtg>Atg	p.V1306M		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1306					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAAGGTGGCACATTTGTTTGA	0.428													91	134					0	0	0	0	T	32631662	C	T	32631662	3	4	198	1	0	0	0	0	1	0	0	0	15614	478	17	4	1568	4	TAF1L	9	32631662	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	4681184	32631662	108581769	147	35463											
TAF1L	138474	broad.mit.edu	37	chr9	32633519	32633519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgcctgtgagatcctgagGtgtgcgcataaaaaacaact	12	11	10	8	1	0	2	0	2	0	1	1	3	1	2	2	1	4	1	2	1	4	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:32633519G>A	ENST00000242310.4	-	1	2148	c.2059C>T	c.(2059-2061)Cct>Tct	p.P687S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	687					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGATCCTGAGGTGTGCGCATA	0.433													6	117					0	0	0	0	A	32633519	G	A	32633519	3	1	198	1	0	0	0	0	1	0	0	0	15614	1261	44	4	3425	4	TAF1L	9	32633519	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1857	32633519	108579912	148	35464											
SIT1	27240	broad.mit.edu	37	chr9	35650548	35650548	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccctggtccactgggacaAgtgtgcagccagcgagatga	9	6	14	12	1	0	2	0	1	0	1	1	4	1	3	4	2	3	1	4	2	1	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:35650548A>T	ENST00000259608.3	-	2	273	c.187T>A	c.(187-189)Ttg>Atg	p.L63M	SIT1_ENST00000474403.1_Intron	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	63					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACTGGGACAAGTGTGCAGCC	0.597													58	69					0	0	0	0	T	35650548	A	T	35650548	3	4	198	1	0	0	0	0	1	0	0	0	14432	69	3	5	419	5	SIT1	9	35650548	Missense_Mutation	SNP	A	TCGA-CR-7371-01A-11D-2012-08	3017029	35650548	105562883	149	35465											
PGM5	5239	broad.mit.edu	37	chr9	71002492	71002492	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgaagattcgcattgacGcaatgcacggaggtaagctt	13	9	11	8	3	0	3	0	2	0	1	1	4	0	4	0	2	3	5	0	2	4	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:71002492G>C	ENST00000396396.1	+	4	914	c.685G>C	c.(685-687)Gca>Cca	p.A229P	PGM5_ENST00000396392.1_Missense_Mutation_p.A229P|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	229					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TCGCATTGACGCAATGCACGG	0.468													7	55					0	0	0	0	C	71002492	G	C	71002492	3	2	198	1	0	0	0	0	1	0	0	0	11873	1087	38	3	699	3	PGM5	9	71002492	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	35351944	71002492	70210939	150	35466											
C9orf135	138255	broad.mit.edu	37	chr9	72435949	72435949	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgttggtgtattcctggTgagcgaagtcccctcgcaag	6	11	14	10	3	0	1	0	1	0	0	3	2	2	1	3	3	1	3	3	3	3	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:72435949T>A	ENST00000377197.3	+	1	239		c.e1+2		C9orf135_ENST00000466872.2_Splice_Site|C9orf135_ENST00000527647.1_Splice_Site	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135							integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GTATTCCTGGTGAGCGAAGTC	0.587													10	39					0	0	0	0	A	72435949	T	A	72435949	5	1	198	1	0	0	0	0	0	0	1	0	2483	1710	59	5	156	5	C9orf135	9	72435949	Splice_Site	SNP	T	TCGA-CR-7371-01A-11D-2012-08	1433457	72435949	68777482	151	35467											
TRPM3	80036	broad.mit.edu	37	chr9	73167807	73167807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctctcgtgtttcctccatCggcagcacaggtgctggaat	6	11	11	13	3	1	0	0	0	1	0	5	1	3	1	2	3	2	5	2	3	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:73167807C>T	ENST00000377110.2	-	23	3734	c.3491G>A	c.(3490-3492)cGa>cAa	p.R1164Q	TRPM3_ENST00000396285.1_Missense_Mutation_p.R1023Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1026Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1036Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1026Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1168Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1191Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1023Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1036Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1023Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1013Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.R1164Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1189						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTTCCTCCATCGGCAGCACAG	0.527													24	222					0	0	0	0	T	73167807	C	T	73167807	3	4	198	1	0	0	0	0	1	0	0	0	16682	884	31	1	1644	1	TRPM3	9	73167807	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	731858	73167807	68045624	152	35468											
PRUNE2	158471	broad.mit.edu	37	chr9	79320154	79320154	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcaccccacgaggcttCagatgagcagatatcttgct	13	9	8	11	1	3	3	2	1	1	2	3	4	3	3	2	1	2	3	2	1	3	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:79320154C>A	ENST00000428286.1	-	8	7159	c.5959G>T	c.(5959-5961)Gaa>Taa	p.E1987*	PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.E2346*			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2346					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACGAGGCTTCAGATGAGCAG	0.473													32	133					9.65021e-13	2.27448e-12	1	0	A	79320154	C	A	79320154	4	1	198	1	0	0	0	0	0	1	0	0	12720	835	29	2	2278	2	PRUNE2	9	79320154	Nonsense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	6152347	79320154	61893277	153	35469											
TLE1	7088	broad.mit.edu	37	chr9	84199390	84199390	+	Frame_Shift_Del	DEL	C	C	-																															atgctggctccatagggggtCcgccaagcattgaggaggtt																										TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:84199390delC	ENST00000376499.3	-	19	3242	c.2178delG	c.(2176-2178)cgfs	p.R726fs		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	726					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CATAGGGGGTCCGCCAAGCAT	0.453													15	87	---	---	---	---					-	84199390	C	-	84199390	7	5	198	1	0	1	0	1	0	0	0	0	16032	842	30	0	142	0	TLE1	9	84199390	Frame_Shift_Del	DEL	C	TCGA-CR-7371-01A-11D-2012-08	4879236	84199390	57014041	154	35470											
ABCA1	19	broad.mit.edu	37	chr9	107618116	107618116	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgctttccagagcaccCagattctgaaggaggcccag	11	7	10	13	0	1	3	0	1	1	2	2	4	2	4	3	2	2	2	3	2	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:107618116C>G	ENST00000423487.2	-	8	1270	c.974G>C	c.(973-975)tGg>tCg	p.W325S	ABCA1_ENST00000374736.3_Intron			O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	0					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCAGAGCACCCAGATTCTGAA	0.458													6	20					0	0	0	0	G	107618116	C	G	107618116	3	3	198	1	0	0	0	0	1	0	0	0	28	609	21	4		4	ABCA1	9	107618116	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	23418726	107618116	33595315	155	35471											
UGCG	7357	broad.mit.edu	37	chr9	114676936	114676936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaacagccttatagcaagctCccaggtgtctctcttctgaa	11	11	7	12	0	3	1	0	1	3	0	5	1	4	1	2	1	4	2	2	1	5	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:114676936C>T	ENST00000374279.3	+	2	600	c.150C>T	c.(148-150)ctC>ctT	p.L50L	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	50					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	ATAGCAAGCTCCCAGGTGTCT	0.368													13	52					0	0	0	0	T	114676936	C	T	114676936	2	4	198	1	0	0	0	0	0	0	0	1	17035	842	30	2		2	UGCG	9	114676936	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	7058820	114676936	26536495	156	35472											
ALAD	210	broad.mit.edu	37	chr9	116155760	116155760	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagatgaggttggaggcaTtgagggtggtggtggctgtc	6	11	21	3	0	0	3	0	2	0	1	1	4	0	4	0	8	0	4	0	8	1	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:116155760T>C	ENST00000409155.3	-	2	276	c.80A>G	c.(79-81)aAt>aGt	p.N27S	ALAD_ENST00000277315.5_Missense_Mutation_p.N27S	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	27					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GTTGGAGGCATTGAGGGTGGT	0.617													11	39					0	0	0	0	C	116155760	T	C	116155760	3	2	198	1	0	0	0	0	1	0	0	0	483	1493	52	5	956	5	ALAD	9	116155760	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	1478824	116155760	25057671	157	35473											
DENND1A	57706	broad.mit.edu	37	chr9	126429310	126429310	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcccaagtacttacattctCaggtatgctgggaagttctc	9	14	8	10	0	2	0	1	0	2	0	5	1	3	1	1	2	3	4	1	2	5	6			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:126429310C>G	ENST00000373624.2	-	8	703	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	DENND1A_ENST00000394215.2_Missense_Mutation_p.E138Q|DENND1A_ENST00000373618.1_Missense_Mutation_p.E136Q|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Missense_Mutation_p.E168Q|DENND1A_ENST00000394219.3_Missense_Mutation_p.E136Q	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	168	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CTTACATTCTCAGGTATGCTG	0.299													5	31					0	0	0	0	G	126429310	C	G	126429310	3	3	198	1	0	0	0	0	1	0	0	0	4463	835	29	2	2694	2	DENND1A	9	126429310	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	10273550	126429310	14784121	158	35474											
SH2D3C	10044	broad.mit.edu	37	chr9	130511596	130511596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggggcctgaggggctgaCggggctagcaggcttgctac	5	8	18	10	1	0	2	0	2	0	0	0	2	0	2	1	7	3	5	1	7	2	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:130511596C>A	ENST00000314830.8	-	5	1146	c.1033G>T	c.(1033-1035)Gtc>Ttc	p.V345F	SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000420366.1_Missense_Mutation_p.V187F|SH2D3C_ENST00000373276.3_Missense_Mutation_p.V277F|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373274.3_Missense_Mutation_p.V185F|SH2D3C_ENST00000373277.4_Missense_Mutation_p.V188F	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	345					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGGGGCTGACGGGGCTAGCA	0.657													12	51					0.000978159	0.00196659	1	0	A	130511596	C	A	130511596	3	1	198	1	0	0	0	0	1	0	0	0	14321	536	19	3	1581	3	SH2D3C	9	130511596	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	4082286	130511596	10701835	159	35475											
AIF1L	83543	broad.mit.edu	37	chr9	133993218	133993218	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagatgaagaagatgatctCagaggtgacaggaggggtca	14	6	17	4	0	2	7	2	3	1	4	3	9	2	8	0	5	0	0	0	5	2	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:133993218C>G	ENST00000372309.3	+	6	510	c.356C>G	c.(355-357)tCa>tGa	p.S119*	AIF1L_ENST00000372298.1_Nonsense_Mutation_p.S93*|AIF1L_ENST00000372301.2_Nonsense_Mutation_p.S37*|AIF1L_ENST00000372300.1_Nonsense_Mutation_p.S93*|AIF1L_ENST00000372302.1_Nonsense_Mutation_p.S85*|AIF1L_ENST00000247291.3_Nonsense_Mutation_p.S93*|AIF1L_ENST00000372297.2_Nonsense_Mutation_p.S37*|AIF1L_ENST00000372312.3_Nonsense_Mutation_p.S98*	NM_001185095.1	NP_001172024.1	Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like	93						actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding			lung(2)	2						AAGATGATCTCAGAGGTGACA	0.507													8	69					0	0	0	0	G	133993218	C	G	133993218	4	3	198	1	0	0	0	0	0	1	0	0	425	838	29	2	378	2	AIF1L	9	133993218	Nonsense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	3481622	133993218	7220213	160	35476											
COL5A1	1289	broad.mit.edu	37	chr9	137716625	137716625	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggagattgagcagatgaaAcggcccctgggcacgcagca	11	5	14	11	2	0	4	0	2	0	2	0	5	0	4	2	3	3	4	2	3	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:137716625A>T	ENST00000371817.3	+	62	5292	c.4878A>T	c.(4876-4878)aaA>aaT	p.K1626N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1626	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCAGATGAAACGGCCCCTGG	0.632													10	31					0	0	0	0	T	137716625	A	T	137716625	3	4	198	1	0	0	0	0	1	0	0	0	3726	40	2	5	5124	5	COL5A1	9	137716625	Missense_Mutation	SNP	A	TCGA-CR-7371-01A-11D-2012-08	3723407	137716625	3496806	161	35477											
ABCA2	20	broad.mit.edu	37	chr9	139913671	139913671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgctgcagcctgccctgctCcaggaagctgcggatctccg	5	9	12	15	2	1	0	0	0	1	0	3	2	2	2	4	2	7	4	4	2	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:139913671C>T	ENST00000265662.5	-	11	1660	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	ABCA2_ENST00000341511.6_Missense_Mutation_p.E505K|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Missense_Mutation_p.E504K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	504					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTGCCCTGCTCCAGGAAGCTG	0.652													6	31					0	0	0	0	T	139913671	C	T	139913671	3	4	198	1	0	0	0	0	1	0	0	0	32	864	30	2	5953	2	ABCA2	9	139913671	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	2197046	139913671	1299760	162	35478											
CELF2	10659	broad.mit.edu	37	chr10	11047378	11047378	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcccaaatccgctgttactAtgagaaatgaagagctgctt	12	11	9	9	1	0	3	0	2	0	2	2	4	2	3	2	0	3	4	2	0	5	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:11047378A>G	ENST00000379261.4	+	1	120	c.28A>G	c.(28-30)Atg>Gtg	p.M10V	CELF2_ENST00000416382.2_Missense_Mutation_p.M10V	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	10	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CGCTGTTACTATGAGAAATGA	0.413													6	182					0	0	0	0	G	11047378	A	G	11047378	3	3	198	1	0	0	0	0	1	0	0	0	3245	449	16	5	30	5	CELF2	10	11047378	Missense_Mutation	SNP	A	TCGA-CR-7371-01A-11D-2012-08		11047378	124487369	163	35479											
ITGA8	8516	broad.mit.edu	37	chr10	15655677	15655677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaggcagcagatgtcataGagtctggaacctggcaagtt	12	8	12	9	0	2	2	1	0	1	2	2	3	2	3	2	3	2	4	2	3	3	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:15655677G>C	ENST00000378076.3	-	15	1888	c.1535C>G	c.(1534-1536)tCt>tGt	p.S512C		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	512					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGATGTCATAGAGTCTGGAAC	0.453													17	112					0	0	0	0	C	15655677	G	C	15655677	3	2	198	1	0	0	0	0	1	0	0	0	7935	942	33	2	1720	2	ITGA8	10	15655677	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	4608299	15655677	119879070	164	35480											
MYO3A	53904	broad.mit.edu	37	chr10	26414348	26414348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctttgctttgcattcGggcagatgagctacaagaag	9	13	11	8	1	1	3	0	1	1	2	2	3	1	3	0	1	5	5	0	1	3	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:26414348G>A	ENST00000265944.5	+	19	2091	c.1925G>A	c.(1924-1926)cGg>cAg	p.R642Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	642	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R642L(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTTTGCATTCGGGCAGATGAG	0.418													66	40					0	0	0	0	A	26414348	G	A	26414348	3	1	198	1	0	0	0	0	1	0	0	0	10146	1116	39	1	1991	1	MYO3A	10	26414348	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	10758671	26414348	109120399	165	35481											
PARD3	56288	broad.mit.edu	37	chr10	34420402	34420402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attacttacccagggttgctCaaaactataggtccgccgac	11	10	8	12	2	1	0	1	0	0	0	2	1	2	0	3	2	4	2	3	2	6	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:34420402C>G	ENST00000374789.3	-	23	3863	c.3538G>C	c.(3538-3540)Gag>Cag	p.E1180Q	PARD3_ENST00000374794.3_Missense_Mutation_p.E1068Q|PARD3_ENST00000346874.4_Missense_Mutation_p.E1143Q|PARD3_ENST00000374790.3_Missense_Mutation_p.E1120Q|PARD3_ENST00000350537.4_Missense_Mutation_p.E1134Q|PARD3_ENST00000545693.1_Missense_Mutation_p.E1164Q|PARD3_ENST00000374788.3_Missense_Mutation_p.E1177Q|PARD3_ENST00000545260.1_Missense_Mutation_p.E1090Q	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1180					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CAGGGTTGCTCAAAACTATAG	0.458													4	47					0	0	0	0	G	34420402	C	G	34420402	3	3	198	1	0	0	0	0	1	0	0	0	11514	835	29	2	544	2	PARD3	10	34420402	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	8006054	34420402	101114345	166	35482											
PARD3	56288	broad.mit.edu	37	chr10	34420469	34420469	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttgctgaaattcttgcctCagacgctgtatccgatcatg	8	13	9	11	2	3	2	2	1	1	1	4	3	4	2	2	0	2	4	2	0	2	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:34420469C>G	ENST00000374789.3	-	23	3796	c.3471G>C	c.(3469-3471)ctG>ctC	p.L1157L	PARD3_ENST00000374794.3_Silent_p.L1045L|PARD3_ENST00000346874.4_Silent_p.L1120L|PARD3_ENST00000374790.3_Silent_p.L1097L|PARD3_ENST00000350537.4_Silent_p.L1111L|PARD3_ENST00000545693.1_Silent_p.L1141L|PARD3_ENST00000374788.3_Silent_p.L1154L|PARD3_ENST00000545260.1_Silent_p.L1067L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1157					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ATTCTTGCCTCAGACGCTGTA	0.433													9	62					0	0	0	0	G	34420469	C	G	34420469	2	3	198	1	0	0	0	0	0	0	0	1	11514	813	29	2		2	PARD3	10	34420469	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	67	34420469	101114278	167	35483											
ANKRD30A	91074	broad.mit.edu	37	chr10	37440991	37440991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattaaccttttatagatcCgatgttcccaccagaatcca	12	13	5	11	1	0	3	0	1	0	2	3	4	3	3	5	0	1	1	5	0	4	5	rs45515098		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:37440991C>T	ENST00000374660.1	+	12	1580	c.1481C>T	c.(1480-1482)cCg>cTg	p.P494L	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P494L|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P494L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	550						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTTATAGATCCGATGTTCCCA	0.294													9	43					0	0	0	0	T	37440991	C	T	37440991	3	4	198	1	0	0	0	0	1	0	0	0	658	652	23	1	1527	1	ANKRD30A	10	37440991	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	3020522	37440991	98093756	168	35484											
ZNF33A	7581	broad.mit.edu	37	chr10	38344884	38344884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggagaaaccctatgaatGtaatgaatgtggaaaagcct	16	8	12	5	0	0	3	0	2	0	1	0	5	0	4	2	3	2	1	2	3	7	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:38344884G>A	ENST00000374618.3	+	5	2010	c.1832G>A	c.(1831-1833)tGt>tAt	p.C611Y	ZNF33A_ENST00000307441.9_Missense_Mutation_p.C610Y|ZNF33A_ENST00000458705.2_Missense_Mutation_p.C610Y|ZNF33A_ENST00000432900.2_Missense_Mutation_p.C617Y|ZNF33A_ENST00000469037.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	610						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CCCTATGAATGTAATGAATGT	0.363													11	58					0	0	0	0	A	38344884	G	A	38344884	3	1	198	1	0	0	0	0	1	0	0	0	17949	1377	48	4	1846	4	ZNF33A	10	38344884	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	903893	38344884	97189863	169	35485											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43654256	43654256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacatgtgaccctcttccGcccttttggacctctcatga	7	13	7	14	1	2	3	1	2	2	1	4	4	3	4	4	1	0	0	4	1	1	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:43654256G>T	ENST00000374466.3	+	3	1090	c.755G>T	c.(754-756)cGc>cTc	p.R252L	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R252L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	252					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACCCTCTTCCGCCCTTTTGGA	0.393													11	50					3.07112e-06	6.48065e-06	1	0	T	43654256	G	T	43654256	3	4	198	1	0	0	0	0	1	0	0	0	3971	1087	38	3	761	3	CSGALNACT2	10	43654256	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	5309372	43654256	91880491	170	35486											
ANK3	288	broad.mit.edu	37	chr10	61815535	61815535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacacagggtttagtctcttCtattataagcttgctggttt	8	17	8	8	0	2	0	0	0	2	0	3	0	2	0	0	2	2	4	0	2	4	8			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:61815535C>G	ENST00000280772.1	-	42	13137	c.12946G>C	c.(12946-12948)Gaa>Caa	p.E4316Q	ANK3_ENST00000373827.2_Missense_Mutation_p.E1800Q|ANK3_ENST00000355288.2_Missense_Mutation_p.E940Q|ANK3_ENST00000503366.1_Missense_Mutation_p.E1807Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4316					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTAGTCTCTTCTATTATAAGC	0.438													6	218					0	0	0	0	G	61815535	C	G	61815535	3	3	198	1	0	0	0	0	1	0	0	0	622	922	32	2	195	2	ANK3	10	61815535	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	18161279	61815535	73719212	171	35487											
AGAP5	729092	broad.mit.edu	37	chr10	75457410	75457410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgccatcctgtccccagctCctgcctcatagatctcagat	7	11	6	17	0	2	2	2	0	1	2	6	2	5	2	6	0	3	1	6	0	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:75457410C>T	ENST00000443782.2	-	1	229	c.104G>A	c.(103-105)gGa>gAa	p.G35E	AGAP5_ENST00000374094.4_Missense_Mutation_p.G35E|RP11-464F9.1_ENST00000399449.3_RNA			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	35					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						GTCCCCAGCTCCTGCCTCATA	0.582													21	152					0	0	0	0	T	75457410	C	T	75457410	3	4	198	1	0	0	0	0	1	0	0	0	371	855	30	2	1988	2	AGAP5	10	75457410	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	13641875	75457410	60077337	172	35488											
WAPAL	23063	broad.mit.edu	37	chr10	88232004	88232004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggctgagtgctctttaagCcacttaacaagtactcaatg	12	11	9	9	0	2	1	1	1	1	0	2	2	2	1	1	1	4	3	1	1	5	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:88232004C>G	ENST00000298767.5	-	7	2463	c.1991G>C	c.(1990-1992)gGc>gCc	p.G664A		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	664	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GCTCTTTAAGCCACTTAACAA	0.343													4	41					0	0	0	0	G	88232004	C	G	88232004	3	3	198	1	0	0	0	0	1	0	0	0	17344	739	26	4	1633	4	WAPAL	10	88232004	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	12774594	88232004	47302743	173	35489											
ABLIM1	3983	broad.mit.edu	37	chr10	116444079	116444079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccatggtgtgatgagggtCcgtgagctcagtcatttcca	7	12	12	10	1	2	3	2	3	0	0	5	3	5	3	3	2	1	1	3	2	0	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:116444079C>A	ENST00000369252.4	-	1	335	c.34G>T	c.(34-36)Gac>Tac	p.D12Y	ABLIM1_ENST00000533213.2_Missense_Mutation_p.D12Y	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	0					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TGATGAGGGTCCGTGAGCTCA	0.468													12	62					3.27435e-08	7.16615e-08	1	0	A	116444079	C	A	116444079	3	1	198	1	0	0	0	0	1	0	0	0	94	855	30	2	2546	2	ABLIM1	10	116444079	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	28212075	116444079	19090668	174	35490											
KCNK18	338567	broad.mit.edu	37	chr10	118969465	118969465	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcatcagcaacctggaTgaagttggacagcaggtgga	12	8	12	9	0	2	1	2	1	0	0	3	4	3	4	2	4	3	3	2	4	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:118969465T>C	ENST00000334549.1	+	3	810	c.810T>C	c.(808-810)gaT>gaC	p.D270D		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	270						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		GCAACCTGGATGAAGTTGGAC	0.527													18	93					0	0	0	0	C	118969465	T	C	118969465	2	2	198	1	0	0	0	0	0	0	0	1	8118	1461	51	5		5	KCNK18	10	118969465	Silent	SNP	T	TCGA-CR-7371-01A-11D-2012-08	2525386	118969465	16565282	175	35491											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119768713	119768713	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagactacgataccctgcAgtggcatcaaaggggttgct	10	9	12	10	1	2	1	2	0	0	1	2	2	2	1	1	3	4	4	1	3	3	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:119768713A>T	ENST00000355624.3	-	5	1774	c.1335T>A	c.(1333-1335)acT>acA	p.T445T	RAB11FIP2_ENST00000369199.3_Silent_p.T465T|RAB11FIP2_ENST00000476207.1_5'UTR	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	445	FIP-RBD.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GATACCCTGCAGTGGCATCAA	0.458													25	73					0	0	0	0	T	119768713	A	T	119768713	2	4	198	1	0	0	0	0	0	0	0	1	12976	175	7	5		5	RAB11FIP2	10	119768713	Silent	SNP	A	TCGA-CR-7371-01A-11D-2012-08	799248	119768713	15766034	176	35492											
WDR11	55717	broad.mit.edu	37	chr10	122618278	122618278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaggagtagctcagtgtGagatccaagagcatgccaag	13	6	13	9	0	1	2	1	1	0	2	2	4	2	3	2	1	4	4	2	1	3	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:122618278G>A	ENST00000263461.6	+	3	568	c.322G>A	c.(322-324)Gag>Aag	p.E108K		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	108						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AGCTCAGTGTGAGATCCAAGA	0.458													6	41					0	0	0	0	A	122618278	G	A	122618278	3	1	198	1	0	0	0	0	1	0	0	0	17369	1291	45	2	332	2	WDR11	10	122618278	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	2849565	122618278	12916469	177	35493											
OR51G1	79324	broad.mit.edu	37	chr11	4945474	4945474	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggtagatgaagcagaaGggaatagagatccagccatg	15	6	14	6	0	1	4	1	1	0	3	2	6	2	5	2	2	2	2	2	2	5	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:4945474G>T	ENST00000321961.2	-	1	163	c.96C>A	c.(94-96)ccC>ccA	p.P32P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAAGCAGAAGGGAATAGAGA	0.468													11	50					1.33987e-11	3.10073e-11	1	0	T	4945474	G	T	4945474	2	4	198	1	0	0	0	0	0	0	0	1	11169	987	35	4		4	OR51G1	11	4945474	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08		4945474	130061042	178	35494											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5653889	5653889	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactcctactcttctgtaagGaggataggaaagtcatttgc	12	12	9	8	0	3	0	1	0	2	0	4	3	4	3	1	3	3	1	1	3	5	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:5653889G>T	ENST00000354852.5	+	8	1563	c.1390G>T	c.(1390-1392)Gag>Tag	p.E464*	TRIM6-TRIM34_ENST00000457787.2_Nonsense_Mutation_p.E110*|TRIM34_ENST00000429814.2_Nonsense_Mutation_p.E110*|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_Nonsense_Mutation_p.E110*	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		464						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CTTCTGTAAGGAGGATAGGAA	0.493													4	23					0.00024832	0.000504544	1	0	T	5653889	G	T	5653889	4	4	198	1	0	0	0	0	0	1	0	0	16629	1175	41	2	1420	2	TRIM6-TRIM34	11	5653889	Nonsense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	708415	5653889	129352627	179	35495											
OR52E6	390078	broad.mit.edu	37	chr11	5862952	5862952	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcagtagtacatgggcTcatggagactctgctcagtt	9	10	12	10	0	3	1	2	0	1	1	3	2	3	1	1	3	2	6	1	3	2	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:5862952T>A	ENST00000329322.5	-	1	175	c.176A>T	c.(175-177)gAg>gTg	p.E59V	OR52E6_ENST00000379946.2_Missense_Mutation_p.E63V|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTACATGGGCTCATGGAGACT	0.463													17	98					0	0	0	0	A	5862952	T	A	5862952	3	1	198	1	0	0	0	0	1	0	0	0	11188	1551	54	5	767	5	OR52E6	11	5862952	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	209063	5862952	129143564	180	35496											
OR2D2	120776	broad.mit.edu	37	chr11	6913477	6913477	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaccttctttctggaaagCaggtggactagtgcctgagg	9	11	13	8	0	2	2	0	2	2	0	2	4	2	4	2	4	2	1	2	4	2	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:6913477C>A	ENST00000299459.2	-	1	353	c.255G>T	c.(253-255)ctG>ctT	p.L85L		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCTGGAAAGCAGGTGGACTA	0.468													9	52					0.000274275	0.000555806	1	0	A	6913477	C	A	6913477	2	1	198	1	0	0	0	0	0	0	0	1	11065	697	25	4		4	OR2D2	11	6913477	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	1050525	6913477	128093039	181	35497											
NLRP14	338323	broad.mit.edu	37	chr11	7064307	7064307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagataagaggtgggccatGaaagtattcagttcactaaa	16	9	11	5	0	2	3	2	1	0	2	2	4	2	3	1	2	0	2	1	2	6	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:7064307G>A	ENST00000299481.4	+	4	1396	c.1050G>A	c.(1048-1050)atG>atA	p.M350I		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	350	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGTGGGCCATGAAAGTATTCA	0.428													15	87					0	0	0	0	A	7064307	G	A	7064307	3	1	198	1	0	0	0	0	1	0	0	0	10546	1290	45	2	1060	2	NLRP14	11	7064307	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	150830	7064307	127942209	182	35498											
OR10A3	26496	broad.mit.edu	37	chr11	7960962	7960962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcccatcagggtcaccaCataaataactaggaaaaccc	16	8	5	12	0	2	0	2	0	0	0	3	1	3	1	3	2	2	0	3	2	6	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:7960962C>T	ENST00000360759.3	-	1	179	c.106G>A	c.(106-108)Gtg>Atg	p.V36M		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGGTCACCACATAAATAACT	0.458													16	43					0	0	0	0	T	7960962	C	T	7960962	3	4	198	1	0	0	0	0	1	0	0	0	10962	478	17	4	841	4	OR10A3	11	7960962	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	896655	7960962	127045554	183	35499											
ABCC8	6833	broad.mit.edu	37	chr11	17482165	17482165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaccaggcgcctcccgaagGcatggctgagtgcctgccag	7	5	15	14	2	0	1	0	1	0	0	1	3	1	2	5	4	2	2	5	4	1	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:17482165G>T	ENST00000302539.4	-	6	1006	c.881C>A	c.(880-882)gCc>gAc	p.A294D	ABCC8_ENST00000389817.3_Missense_Mutation_p.A294D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	294					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCTCCCGAAGGCATGGCTGAG	0.642													14	73					3.45872e-05	7.16048e-05	1	0	T	17482165	G	T	17482165	3	4	198	1	0	0	0	0	1	0	0	0	58	1203	42	4	4000	4	ABCC8	11	17482165	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	9521203	17482165	117524351	184	35500											
IGSF22	283284	broad.mit.edu	37	chr11	18741305	18741305	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctctttgagcttcctgagCagcccccgaaagtcggtgaa	9	10	10	12	2	1	3	0	3	1	0	4	4	2	3	3	1	3	2	3	1	2	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:18741305C>A	ENST00000513874.1	-	7	793	c.654G>T	c.(652-654)ctG>ctT	p.L218L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	218	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTTCCTGAGCAGCCCCCGAA	0.517													19	158					1.01871e-10	2.30868e-10	1	0	A	18741305	C	A	18741305	2	1	198	1	0	0	0	0	0	0	0	1	7653	697	25	4		4	IGSF22	11	18741305	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	1259140	18741305	116265211	185	35501											
SLC6A5	9152	broad.mit.edu	37	chr11	20639323	20639323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctgaagatttctgcaGggattgaatatcctggcgag	9	13	13	6	1	1	3	0	2	1	1	2	5	2	4	1	2	2	2	1	2	3	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:20639323G>T	ENST00000525748.1	+	7	1426	c.1153G>T	c.(1153-1155)Ggg>Tgg	p.G385W		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	385					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.G385W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GATTTCTGCAGGGATTGAATA	0.502													10	89					0.000978159	0.00196659	1	0	T	20639323	G	T	20639323	3	4	198	1	0	0	0	0	1	0	0	0	14775	1000	35	4	1179	4	SLC6A5	11	20639323	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1898018	20639323	114367193	186	35502											
FBXO3	26273	broad.mit.edu	37	chr11	33768856	33768856	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgacctgggctgatgatTggaaattcacctgcagggaa	11	8	12	10	1	1	2	1	2	0	0	1	5	1	4	3	3	1	2	3	3	2	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:33768856T>C	ENST00000530401.1	-	10	1064	c.1044A>G	c.(1042-1044)ccA>ccG	p.P348P	FBXO3_ENST00000265651.3_Silent_p.P353P|FBXO3_ENST00000526785.1_Silent_p.P240P|FBXO3_ENST00000531080.1_Silent_p.P40P|FBXO3_ENST00000448981.2_Silent_p.P353P|FBXO3_ENST00000532057.1_Silent_p.P40P|FBXO3_ENST00000534136.1_Silent_p.P353P			Q9UK99	FBX3_HUMAN	F-box protein 3	353	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GGCTGATGATTGGAAATTCAC	0.343													14	35					0	0	0	0	C	33768856	T	C	33768856	2	2	198	1	0	0	0	0	0	0	0	1	5784	1799	63	5		5	FBXO3	11	33768856	Silent	SNP	T	TCGA-CR-7371-01A-11D-2012-08	13129533	33768856	101237660	187	35503											
HARBI1	283254	broad.mit.edu	37	chr11	46637351	46637351	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catggatacagtcaaccaccCccatcacccctggcatccct	10	7	5	19	0	2	0	2	0	0	0	3	1	3	1	6	2	2	1	6	2	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:46637351C>G	ENST00000326737.3	-	2	684	c.437G>C	c.(436-438)gGg>gCg	p.G146A		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	146						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						GTCAACCACCCCCATCACCCC	0.512													46	195					0	0	0	0	G	46637351	C	G	46637351	3	3	198	1	0	0	0	0	1	0	0	0	7008	623	22	4	620	4	HARBI1	11	46637351	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	12868495	46637351	88369165	188	35504											
OR4C15	81309	broad.mit.edu	37	chr11	55322242	55322242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaggctgcatgatgcagCtctttgctgaacacttcttt	8	15	9	9	0	2	3	0	3	2	0	2	3	2	3	0	1	5	5	0	1	2	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:55322242C>A	ENST00000314644.2	+	1	460	c.460C>A	c.(460-462)Ctc>Atc	p.L154I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CATGATGCAGCTCTTTGCTGA	0.478										HNSCC(20;0.049)			29	110					1.2476e-16	3.02424e-16	1	0	A	55322242	C	A	55322242	3	1	198	1	0	0	0	0	1	0	0	0	11119	797	28	4	462	4	OR4C15	11	55322242	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	8684891	55322242	79684274	189	35505											
OR4C15	81309	broad.mit.edu	37	chr11	55322833	55322833	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggaagtaaaacaggccAtgaggagaatatggaacaga	20	5	12	4	0	0	3	0	1	0	2	0	6	0	5	1	4	2	1	1	4	7	3	rs112163324		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:55322833A>T	ENST00000314644.2	+	1	1051	c.1051A>T	c.(1051-1053)Atg>Ttg	p.M351L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AAAACAGGCCATGAGGAGAAT	0.333										HNSCC(20;0.049)			9	55					0	0	0	0	T	55322833	A	T	55322833	3	4	198	1	0	0	0	0	1	0	0	0	11119	217	8	5	1053	5	OR4C15	11	55322833	Missense_Mutation	SNP	A	TCGA-CR-7371-01A-11D-2012-08	591	55322833	79683683	190	35506											
OR8K3	219473	broad.mit.edu	37	chr11	56086330	56086330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctactgtgacagtctccCtttgttacctttgctttgtt	4	21	6	10	0	2	1	0	1	2	0	3	1	2	1	2	0	3	3	2	0	2	7			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:56086330C>A	ENST00000312711.1	+	1	548	c.548C>A	c.(547-549)cCt>cAt	p.P183H		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GACAGTCTCCCTTTGTTACCT	0.328													18	77					5.35267e-07	1.14529e-06	1	0	A	56086330	C	A	56086330	3	1	198	1	0	0	0	0	1	0	0	0	11315	681	24	4	550	4	OR8K3	11	56086330	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	763497	56086330	78920186	191	35507											
P2RX3	5024	broad.mit.edu	37	chr11	57118259	57118259	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagttctgggcattaagatCggctgggtgtgcgacttgga	7	11	17	6	2	1	1	0	0	1	1	2	4	1	3	0	5	1	3	0	5	1	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:57118259C>T	ENST00000263314.2	+	8	763	c.729C>T	c.(727-729)atC>atT	p.I243I		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	243					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.I243I(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GCATTAAGATCGGCTGGGTGT	0.622													4	26					0	0	0	0	T	57118259	C	T	57118259	2	4	198	1	0	0	0	0	0	0	0	1	11412	874	31	1		1	P2RX3	11	57118259	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	1031929	57118259	77888257	192	35508											
OR4D11	219986	broad.mit.edu	37	chr11	59271774	59271774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatctccacttgcacctcCcacatcactgtggtgaccct	7	10	6	18	0	2	1	1	1	1	0	4	1	3	1	5	1	1	1	5	1	0	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:59271774C>T	ENST00000313253.1	+	1	726	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTTGCACCTCCCACATCACTG	0.547													28	160					0	0	0	0	T	59271774	C	T	59271774	2	4	198	1	0	0	0	0	0	0	0	1	11126	610	22	4		4	OR4D11	11	59271774	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	2153515	59271774	75734742	193	35509											
MS4A5	64232	broad.mit.edu	37	chr11	60215208	60215208	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggggtgccactcagaggaTtgtgattgtgaacaatgttg	9	13	14	5	0	1	3	1	2	0	1	1	4	1	4	1	3	2	1	1	3	2	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:60215208T>C	ENST00000300190.2	+	5	665	c.579T>C	c.(577-579)gaT>gaC	p.D193D		NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	193						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						ACTCAGAGGATTGTGATTGTG	0.353													16	88					0	0	0	0	C	60215208	T	C	60215208	2	2	198	1	0	0	0	0	0	0	0	1	9933	1490	52	5		5	MS4A5	11	60215208	Silent	SNP	T	TCGA-CR-7371-01A-11D-2012-08	943434	60215208	74791308	194	35510											
SART1	9092	broad.mit.edu	37	chr11	65744017	65744017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgggctggctggcaatcGcgaggagcaggaggagctca	9	5	17	10	3	1	0	1	0	0	0	2	4	1	3	0	6	3	5	0	6	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:65744017G>A	ENST00000312397.5	+	13	1816	c.1724G>A	c.(1723-1725)cGc>cAc	p.R575H		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	575					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCTGGCAATCGCGAGGAGCAG	0.687													8	39					0	0	0	0	A	65744017	G	A	65744017	3	1	198	1	0	0	0	0	1	0	0	0	13932	1087	38	1	1774	1	SART1	11	65744017	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	5528809	65744017	69262499	195	35511											
SPTBN2	6712	broad.mit.edu	37	chr11	66454925	66454925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccttcttcccgaaggccTccatctcctgcttgcggcac	5	10	8	18	2	2	0	0	0	2	0	5	1	4	0	5	2	3	2	5	2	1	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:66454925T>C	ENST00000533211.1	-	35	7026	c.6695A>G	c.(6694-6696)gAg>gGg	p.E2232G	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E2232G|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E2232G			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2232	PH.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCGAAGGCCTCCATCTCCTG	0.642													3	93					0	0	0	0	C	66454925	T	C	66454925	3	2	198	1	0	0	0	0	1	0	0	0	15210	1551	54	5	493	5	SPTBN2	11	66454925	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	710908	66454925	68551591	196	35512											
UVRAG	7405	broad.mit.edu	37	chr11	75851885	75851885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgaaaacgggccagctctGagaatgagagacttcagtac	14	7	11	9	2	2	3	1	2	1	2	3	6	2	3	1	1	3	2	1	1	4	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:75851885G>A	ENST00000356136.3	+	15	1769	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	UVRAG_ENST00000539288.1_Missense_Mutation_p.E138K|UVRAG_ENST00000533454.1_Missense_Mutation_p.E138K|UVRAG_ENST00000532130.1_Missense_Mutation_p.E138K|UVRAG_ENST00000531818.1_Missense_Mutation_p.E138K|UVRAG_ENST00000528420.1_Missense_Mutation_p.E409K|UVRAG_ENST00000538870.1_Missense_Mutation_p.E66K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	510					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GGCCAGCTCTGAGAATGAGAG	0.527													7	104					0	0	0	0	A	75851885	G	A	75851885	3	1	198	1	0	0	0	0	1	0	0	0	17204	1291	45	2	1586	2	UVRAG	11	75851885	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	9396960	75851885	59154631	197	35513											
AQP11	282679	broad.mit.edu	37	chr11	77301379	77301379	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctggggggcatgtccccCgagacgggtgcggtgaggct	5	7	19	10	3	0	2	0	1	0	1	1	3	1	2	2	6	2	3	2	6	0	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:77301379C>A	ENST00000313578.3	+	1	700	c.342C>A	c.(340-342)ccC>ccA	p.P114P	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	114						cell surface|integral to membrane	transporter activity			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GCATGTCCCCCGAGACGGGTG	0.607													15	83					1.45105e-14	3.47345e-14	1	0	A	77301379	C	A	77301379	2	1	198	1	0	0	0	0	0	0	0	1	825	639	23	3		3	AQP11	11	77301379	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	1449494	77301379	57705137	198	35514											
DLG2	1740	broad.mit.edu	37	chr11	83673932	83673932	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggcatatctgacctggTgtagtcgtcgtcaacaagca	12	9	10	10	2	2	1	1	1	1	0	4	1	2	1	1	2	3	3	1	2	5	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:83673932T>G	ENST00000398309.2	-	9	1491	c.1021A>C	c.(1021-1023)Acc>Ccc	p.T341P	DLG2_ENST00000531015.1_Missense_Mutation_p.T308P|DLG2_ENST00000418306.2_Missense_Mutation_p.T290P|DLG2_ENST00000280241.8_Missense_Mutation_p.T380P|DLG2_ENST00000524982.1_Missense_Mutation_p.T341P|DLG2_ENST00000398301.2_Missense_Mutation_p.T380P|DLG2_ENST00000543673.1_Missense_Mutation_p.T446P|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.T95P|DLG2_ENST00000330014.6_Missense_Mutation_p.T280P|DLG2_ENST00000532653.1_Missense_Mutation_p.T341P|DLG2_ENST00000376104.2_Missense_Mutation_p.T446P	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	341						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTGACCTGGTGTAGTCGTCG	0.418													4	218					0	0	0	0	G	83673932	T	G	83673932	3	3	198	1	0	0	0	0	1	0	0	0	4592	1696	59	5	1701	5	DLG2	11	83673932	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	6372553	83673932	51332584	199	35515											
KBTBD3	143879	broad.mit.edu	37	chr11	105924580	105924580	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagtccaccagaacctTgcacacacttaattgcatcc	13	8	7	13	0	0	2	0	0	0	2	2	3	2	3	4	1	3	2	4	1	3	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:105924580T>G	ENST00000526793.1	-	3	995	c.836A>C	c.(835-837)cAa>cCa	p.Q279P	KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q279P|KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q200P	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	275										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ACCAGAACCTTGCACACACTT	0.378													4	54					0	0	0	0	G	105924580	T	G	105924580	3	3	198	1	0	0	0	0	1	0	0	0	8047	1812	63	5	1006	5	KBTBD3	11	105924580	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	22250648	105924580	29081936	200	35516											
HSPA8	3312	broad.mit.edu	37	chr11	122930370	122930370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactgggtccagggtgccacGgaacaggtcagcattcagtt	9	9	13	10	1	2	0	2	0	0	0	3	1	3	1	2	4	4	2	2	4	2	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:122930370G>A	ENST00000534624.1	-	5	1207	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	HSPA8_ENST00000453788.2_Missense_Mutation_p.R311C|HSPA8_ENST00000227378.3_Missense_Mutation_p.R311C|HSPA8_ENST00000526110.1_Missense_Mutation_p.R292C|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000534319.1_Missense_Mutation_p.R75C|HSPA8_ENST00000533540.1_Missense_Mutation_p.R165C|HSPA8_ENST00000532636.1_Missense_Mutation_p.R311C	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	311	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGGTGCCACGGAACAGGTCA	0.488													17	39					0	0	0	0	A	122930370	G	A	122930370	3	1	198	1	0	0	0	0	1	0	0	0	7468	1116	39	1	1029	1	HSPA8	11	122930370	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	17005790	122930370	12076146	201	35517											
OR8B2	26595	broad.mit.edu	37	chr11	124252330	124252330	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcctctgaattttaatcaGagctttcctcagtgcaactt	9	16	5	11	0	4	2	2	1	2	1	6	2	5	2	2	0	3	2	2	0	3	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:124252330G>A	ENST00000375013.2	-	1	928	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATTTTAATCAGAGCTTTCCTC	0.338													16	37					0	0	0	0	A	124252330	G	A	124252330	2	1	198	1	0	0	0	0	0	0	0	1	11298	933	33	2		2	OR8B2	11	124252330	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1321960	124252330	10754186	202	35518											
STT3A	3703	broad.mit.edu	37	chr11	125484217	125484217	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgtacatttgtttttccAggcaatggcgtccacagagg	10	13	10	8	1	0	1	0	0	0	1	2	1	2	1	2	3	1	3	2	3	3	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:125484217A>G	ENST00000392708.4	+	15	1830		c.e15-1		STT3A_ENST00000529196.1_Splice_Site|STT3A_ENST00000531491.1_Splice_Site	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)						post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTGTTTTTCCAGGCAATGGCG	0.453													19	222					0	0	0	0	G	125484217	A	G	125484217	5	3	198	1	0	0	0	0	0	0	1	0	15423	202	7	5	1724	5	STT3A	11	125484217	Splice_Site	SNP	A	TCGA-CR-7371-01A-11D-2012-08	1231887	125484217	9522299	203	35519											
ADAMTS15	170689	broad.mit.edu	37	chr11	130318901	130318901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcatcctaaccctggctttCgccgggcgaaccgctggagg	6	7	14	14	4	0	0	0	0	0	0	2	2	1	1	4	5	2	3	4	5	2	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:130318901C>T	ENST00000299164.2	+	1	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	11					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.F11F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCCTGGCTTTCGCCGGGCGAA	0.711													4	29					0	0	0	0	T	130318901	C	T	130318901	2	4	198	1	0	0	0	0	0	0	0	1	260	883	31	1		1	ADAMTS15	11	130318901	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	4834684	130318901	4687615	204	35520											
CLEC4E	26253	broad.mit.edu	37	chr12	8691819	8691819	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggactattatacctgatcCataattgtagcaggagagct	12	12	10	7	0	0	2	0	1	0	1	1	4	1	3	2	2	3	3	2	2	5	6			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:8691819C>A	ENST00000299663.3	-	3	379	c.214G>T	c.(214-216)Gga>Tga	p.G72*	CLEC4E_ENST00000545274.1_Nonsense_Mutation_p.G72*|CLEC4E_ENST00000446457.2_Nonsense_Mutation_p.G72*	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	72						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					ATACCTGATCCATAATTGTAG	0.383													16	108					2.23348e-06	4.73919e-06	1	0	A	8691819	C	A	8691819	4	1	198	1	0	0	0	0	0	1	0	0	3545	603	21	4	461	4	CLEC4E	12	8691819	Nonsense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08		8691819	125160076	205	35521											
KLRF1	51348	broad.mit.edu	37	chr12	9984956	9984956	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaatcttactgggaataTctggaaccgtgaatggtatt	14	13	9	5	1	2	1	0	1	2	0	2	3	2	3	1	3	2	1	1	3	8	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:9984956T>C	ENST00000279544.3	+	2	194	c.130T>C	c.(130-132)Tct>Cct	p.S44P	KLRF1_ENST00000324214.4_Missense_Mutation_p.S44P|KLRF1_ENST00000537723.1_Missense_Mutation_p.S44P|KLRF1_ENST00000354855.3_Missense_Mutation_p.S44P	NM_016523.1	NP_057607.1	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	44					cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						ACTGGGAATATCTGGAACCGT	0.323													9	28					0	0	0	0	C	9984956	T	C	9984956	3	2	198	1	0	0	0	0	1	0	0	0	8472	1435	50	5	136	5	KLRF1	12	9984956	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	1293137	9984956	123866939	206	35522											
ETV6	2120	broad.mit.edu	37	chr12	12022820	12022820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcaacctctctcatcGggaagacctggcttacatga	10	9	8	14	1	3	2	2	1	1	1	5	3	3	3	3	2	2	1	3	2	3	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:12022820G>T	ENST00000396373.4	+	5	1200	c.926G>T	c.(925-927)cGg>cTg	p.R309L		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	309						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTCTCTCATCGGGAAGACCTG	0.577			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								23	98					1.55469e-16	3.75677e-16	1	0	T	12022820	G	T	12022820	3	4	198	1	0	0	0	0	1	0	0	0	5321	1116	39	3	944	3	ETV6	12	12022820	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	2037864	12022820	121829075	207	35523											
GRIN2B	2904	broad.mit.edu	37	chr12	14018815	14018815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatgaaatcgaggatctGggcgatggcttcctggtctg	9	11	14	7	2	2	2	0	2	2	0	4	5	3	3	1	4	0	1	1	4	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:14018815G>T	ENST00000279593.3	-	2	537	c.328C>A	c.(328-330)Cag>Aag	p.Q110K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	110					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCGAGGATCTGGGCGATGGCT	0.542													23	86					5.26018e-13	1.24361e-12	1	0	T	14018815	G	T	14018815	3	4	198	1	0	0	0	0	1	0	0	0	6830	1357	47	4	4174	4	GRIN2B	12	14018815	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1995995	14018815	119833080	208	35524											
PLCZ1	89869	broad.mit.edu	37	chr12	18854534	18854534	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaatacttctgattctttGaatttatcctcctcctcctc	7	18	2	14	0	2	2	0	2	2	0	8	2	7	2	5	0	1	0	5	0	4	6			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:18854534G>C	ENST00000538330.1	-	5	645	c.264C>G	c.(262-264)ttC>ttG	p.F88L	PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000266505.7_Intron|PLCZ1_ENST00000447925.2_Intron|PLCZ1_ENST00000541695.1_Intron|PLCZ1_ENST00000542762.1_Intron|PLCZ1_ENST00000435379.1_Intron			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	317					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTGATTCTTTGAATTTAtcct	0.448													6	30					0	0	0	0	C	18854534	G	C	18854534	3	2	198	1	0	0	0	0	1	0	0	0	12116	1305	45	2		2	PLCZ1	12	18854534	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	4835719	18854534	114997361	209	35525											
C12orf40	283461	broad.mit.edu	37	chr12	40076630	40076630	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgactcttttgttagtCaaaatatgatcaatgtatta	13	18	6	4	0	3	2	2	2	1	0	3	2	3	2	0	0	0	2	0	0	7	7			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:40076630C>A	ENST00000324616.5	+	8	1058	c.904C>A	c.(904-906)Caa>Aaa	p.Q302K	C12orf40_ENST00000398716.1_Missense_Mutation_p.Q225K|C12orf40_ENST00000405531.3_Missense_Mutation_p.Q302K	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	302										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TTTTGTTAGTCAAAATATGAT	0.323													18	53					1.99824e-07	4.31169e-07	1	0	A	40076630	C	A	40076630	3	1	198	1	0	0	0	0	1	0	0	0	1698	827	29	2	934	2	C12orf40	12	40076630	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	21222096	40076630	93775265	210	35526											
LMBR1L	55716	broad.mit.edu	37	chr12	49495950	49495950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggggtagcccaggttccGttgccaggctgaagccttcc	6	8	14	13	1	0	1	0	1	0	0	2	1	2	1	5	4	3	4	5	4	2	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:49495950G>A	ENST00000267102.8	-	11	1225	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	LMBR1L_ENST00000547382.1_Missense_Mutation_p.R295W|LMBR1L_ENST00000395141.4_Missense_Mutation_p.R290W	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	295					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCAGGTTCCGTTGCCAGGCT	0.597													11	63					0	0	0	0	A	49495950	G	A	49495950	3	1	198	1	0	0	0	0	1	0	0	0	8896	1144	40	1	614	1	LMBR1L	12	49495950	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	9419320	49495950	84355945	211	35527											
DGKA	1606	broad.mit.edu	37	chr12	56332340	56332340	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaatgggatcctggacaGctcagtgagttggggaccct	10	8	14	9	0	1	2	1	1	0	1	2	5	2	5	2	4	1	2	2	4	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:56332340G>C	ENST00000331886.5	+	6	849	c.395G>C	c.(394-396)aGc>aCc	p.S132T	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.S132T|DGKA_ENST00000394147.1_Missense_Mutation_p.S132T	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	132	EF-hand 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ATCCTGGACAGCTCAGTGAGT	0.507													29	122					0	0	0	0	C	56332340	G	C	56332340	3	2	198	1	0	0	0	0	1	0	0	0	4502	971	34	4	413	4	DGKA	12	56332340	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	6836390	56332340	77519555	212	35528											
OS9	10956	broad.mit.edu	37	chr12	58090152	58090152	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggccccgggaggccgaggTtcgggtgagtcttgagagag	7	6	20	8	3	1	3	0	2	1	1	2	7	1	4	3	5	0	1	3	5	0	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:58090152T>G	ENST00000315970.7	+	5	616	c.575T>G	c.(574-576)gTt>gGt	p.V192G	OS9_ENST00000552285.1_Missense_Mutation_p.V192G|OS9_ENST00000389146.6_Missense_Mutation_p.V192G|OS9_ENST00000389142.5_Missense_Mutation_p.V192G|OS9_ENST00000257966.8_Missense_Mutation_p.V192G|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Intron|OS9_ENST00000435406.2_Intron|OS9_ENST00000439210.2_Missense_Mutation_p.V133G|OS9_ENST00000551035.1_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	192					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GAGGCCGAGGTTCGGGTGAGT	0.592													12	52					0	0	0	0	G	58090152	T	G	58090152	3	3	198	1	0	0	0	0	1	0	0	0	11343	1725	60	5	593	5	OS9	12	58090152	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	1757812	58090152	75761743	213	35529											
EEA1	8411	broad.mit.edu	37	chr12	93196189	93196189	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaactactaaccaagtctaaTatagcggcttttcctttctg	12	14	5	10	1	2	0	0	0	2	0	3	0	3	0	2	1	4	1	2	1	7	8			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:93196189T>C	ENST00000322349.8	-	19	2925	c.2661A>G	c.(2659-2661)atA>atG	p.I887M		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	887					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CCAAGTCTAATATAGCGGCTT	0.289													4	37					0	0	0	0	C	93196189	T	C	93196189	3	2	198	1	0	0	0	0	1	0	0	0	4957	1396	49	5	1618	5	EEA1	12	93196189	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	35106037	93196189	40655706	214	35530											
EEA1	8411	broad.mit.edu	37	chr12	93219970	93219970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaagttttgccgtggtgCtttgctgaagagcctgttgt	5	15	13	8	2	0	2	0	1	0	1	1	3	0	2	2	1	4	4	2	1	2	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:93219970C>A	ENST00000322349.8	-	13	1760	c.1496G>T	c.(1495-1497)aGc>aTc	p.S499I		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	499	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TGCCGTGGTGCTTTGCTGAAG	0.328													5	27					0.00116845	0.00233689	1	0	A	93219970	C	A	93219970	3	1	198	1	0	0	0	0	1	0	0	0	4957	797	28	4	2807	4	EEA1	12	93219970	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	23781	93219970	40631925	215	35531											
NR1H4	9971	broad.mit.edu	37	chr12	100955661	100955661	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattgcaactttcccccacAggtatctctgatgaatatat	11	14	6	10	0	1	3	0	3	1	0	3	3	2	3	2	1	2	2	2	1	5	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:100955661A>T	ENST00000548884.1	+	10	1607		c.e10-1		NR1H4_ENST00000549996.1_Splice_Site|NR1H4_ENST00000551379.1_Splice_Site|NR1H4_ENST00000188403.7_Splice_Site|NR1H4_ENST00000392986.3_Splice_Site	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4						bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TTTCCCCCACAGGTATCTCTG	0.318													11	17					0	0	0	0	T	100955661	A	T	100955661	5	4	198	1	0	0	0	0	0	0	1	0	10690	202	7	5	1095	5	NR1H4	12	100955661	Splice_Site	SNP	A	TCGA-CR-7371-01A-11D-2012-08	7735691	100955661	32896234	216	35532											
WSCD2	9671	broad.mit.edu	37	chr12	108589738	108589738	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctttgtgggccagccCgctgtctcggggaaccaggc	4	9	15	13	2	2	0	0	0	2	0	3	1	2	1	3	5	2	2	3	5	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:108589738C>T	ENST00000332082.4	+	3	947	c.129C>T	c.(127-129)ccC>ccT	p.P43P	WSCD2_ENST00000547525.1_Silent_p.P43P|WSCD2_ENST00000549903.1_Silent_p.P43P|WSCD2_ENST00000261400.3_Silent_p.P43P			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	43						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGGGCCAGCCCGCTGTCTCGG	0.612													30	135					0	0	0	0	T	108589738	C	T	108589738	2	4	198	1	0	0	0	0	0	0	0	1	17503	639	23	1		1	WSCD2	12	108589738	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	7634077	108589738	25262157	217	35533											
ATP2A2	488	broad.mit.edu	37	chr12	110784230	110784230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataatgcccctggtgatctgGgtctatagcacagacactaa	12	10	9	10	0	2	2	0	1	2	1	2	2	2	2	2	2	2	1	2	2	4	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:110784230G>T	ENST00000395494.2	+	19	3566	c.3003G>T	c.(3001-3003)tgG>tgT	p.W1001C	ATP2A2_ENST00000308664.6_Intron|ATP2A2_ENST00000539276.2_Missense_Mutation_p.W1028C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	1028					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGGTGATCTGGGTCTATAGCA	0.433													6	31					0.00198382	0.00390644	1	0	T	110784230	G	T	110784230	3	4	198	1	0	0	0	0	1	0	0	0	1141	1241	43	4	3162	4	ATP2A2	12	110784230	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	2194492	110784230	23067665	218	35534											
RILPL1	353116	broad.mit.edu	37	chr12	124008157	124008157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagaggaggtcctgcgcCtcccctcgccacacatcctc	6	7	11	17	2	0	1	0	0	0	1	5	3	3	2	6	3	1	0	6	3	0	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:124008157C>T	ENST00000376874.4	-	2	580	c.345G>A	c.(343-345)gaG>gaA	p.E115E		NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	115					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGTCCTGCGCCTCCCCTCGCC	0.627													10	31					0	0	0	0	T	124008157	C	T	124008157	2	4	198	1	0	0	0	0	0	0	0	1	13444	680	24	4		4	RILPL1	12	124008157	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	13223927	124008157	9843738	219	35535											
TUBA3C	7278	broad.mit.edu	37	chr13	19748110	19748110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgggcctcagagaactcccCctcctccatgccttctccca	6	8	7	20	1	2	1	1	0	1	1	6	2	5	1	7	1	2	0	7	1	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr13:19748110C>A	ENST00000400113.3	-	5	1350	c.1246G>T	c.(1246-1248)Ggg>Tgg	p.G416W		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	416					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAGAACTCCCCCTCCTCCATG	0.602													31	113					3.86903e-22	9.56024e-22	1	0	A	19748110	C	A	19748110	3	1	198	1	0	0	0	0	1	0	0	0	16842	623	22	4	110	4	TUBA3C	13	19748110	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08		19748110	95421768	220	35536											
ATP8A2	51761	broad.mit.edu	37	chr13	26154054	26154054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgaaggacagagctcaacGgttggaagagtgttacgaga	14	8	14	5	2	1	4	1	1	0	3	1	7	1	6	0	3	3	3	0	3	4	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr13:26154054G>T	ENST00000381655.2	+	22	2118	c.1976G>T	c.(1975-1977)cGg>cTg	p.R659L	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.R619L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	619					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGAGCTCAACGGTTGGAAGAG	0.438													13	28					2.61681e-11	6.01946e-11	1	0	T	26154054	G	T	26154054	3	4	198	1	0	0	0	0	1	0	0	0	1197	1116	39	3	2062	3	ATP8A2	13	26154054	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	6405944	26154054	89015824	221	35537											
FLT3	2322	broad.mit.edu	37	chr13	28589793	28589793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttaatggtgtagatgcCttcaaacaggctttcggggg	9	12	12	8	1	2	1	1	0	1	1	3	1	2	1	1	4	2	2	1	4	3	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr13:28589793C>A	ENST00000380982.4	-	21	2677	c.2596G>T	c.(2596-2598)Ggc>Tgc	p.G866C	FLT3_ENST00000537084.1_Missense_Mutation_p.G822C|FLT3_ENST00000241453.7_Missense_Mutation_p.G863C			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	863	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTGTAGATGCCTTCAAACAGG	0.483			"Mis, O"		"AML, ALL"								18	50					1.01871e-10	2.30868e-10	1	0	A	28589793	C	A	28589793	3	1	198	1	0	0	0	0	1	0	0	0	5987	681	24	4	410	4	FLT3	13	28589793	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	2435739	28589793	86580085	222	35538											
FREM2	341640	broad.mit.edu	37	chr13	39425083	39425083	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgacattattgttccaggtGagacagaaaagccctgcatt	12	11	9	9	0	0	3	0	2	0	2	1	4	1	3	2	1	2	2	2	1	3	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr13:39425083G>C	ENST00000280481.7	+	10	6796	c.6580G>C	c.(6580-6582)Gag>Cag	p.E2194Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2194	Calx-beta 4.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTTCCAGGTGAGACAGAAAA	0.478													11	49					0	0	0	0	C	39425083	G	C	39425083	3	2	198	1	0	0	0	0	1	0	0	0	6093	1291	45	2	6618	2	FREM2	13	39425083	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	10835290	39425083	75744795	223	35539											
LHFP	10186	broad.mit.edu	37	chr13	39952599	39952599	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagaagtgtagccacaagtCtgccggacttcctcactgtc	9	9	9	14	1	2	1	1	0	1	1	4	2	3	2	4	1	2	1	4	1	3	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr13:39952599C>G	ENST00000379589.3	-	3	912	c.450G>C	c.(448-450)caG>caC	p.Q150H		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	150						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGCCACAAGTCTGCCGGACTT	0.493			T	HMGA2	lipoma								16	51					0	0	0	0	G	39952599	C	G	39952599	3	3	198	1	0	0	0	0	1	0	0	0	8817	912	32	2	160	2	LHFP	13	39952599	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	527516	39952599	75217279	224	35540											
NALCN	259232	broad.mit.edu	37	chr13	101747987	101747987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaattttaaatttaagttCtttgacacactgacattaat	14	17	3	7	0	2	2	1	2	1	0	2	2	2	2	0	0	0	1	0	0	5	7			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr13:101747987C>G	ENST00000251127.6	-	28	3288	c.3207G>C	c.(3205-3207)aaG>aaC	p.K1069N		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1069						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATTTAAGTTCTTTGACACAC	0.358													9	47					0	0	0	0	G	101747987	C	G	101747987	3	3	198	1	0	0	0	0	1	0	0	0	10218	912	32	2	2077	2	NALCN	13	101747987	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	61795388	101747987	13421891	225	35541											
TEP1	7011	broad.mit.edu	37	chr14	20849805	20849805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccatcagggaggcacaGccgggcaccagggcgctcca	8	2	16	15	2	1	0	1	0	0	0	2	1	2	1	4	5	1	3	4	5	0	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:20849805G>A	ENST00000262715.5	-	31	4505	c.4465C>T	c.(4465-4467)Ctg>Ttg	p.L1489L	TEP1_ENST00000556935.1_Silent_p.L1381L|TEP1_ENST00000545983.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1489	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGAGGCACAGCCGGGCACCA	0.602													17	92					0	0	0	0	A	20849805	G	A	20849805	2	1	198	1	0	0	0	0	0	0	0	1	15853	962	34	4		4	TEP1	14	20849805	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08		20849805	86499735	226	35542											
OR4E2	26686	broad.mit.edu	37	chr14	22133982	22133982	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtttctcttcgaaaacactCagctgaagggcgccagaaag	12	8	11	10	2	2	2	1	1	1	1	4	3	2	2	1	2	2	2	1	2	4	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:22133982C>G	ENST00000408935.1	+	1	686	c.686C>G	c.(685-687)tCa>tGa	p.S229*		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CGAAAACACTCAGCTGAAGGG	0.517													11	64					0	0	0	0	G	22133982	C	G	22133982	4	3	198	1	0	0	0	0	0	1	0	0	11131	838	29	2	688	2	OR4E2	14	22133982	Nonsense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	1284177	22133982	85215558	227	35543											
PRKD1	5587	broad.mit.edu	37	chr14	30066700	30066700	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatggaagatattaccttCatgagatatttccttccagg	12	14	8	7	0	1	3	1	2	0	2	3	5	3	4	3	2	1	0	3	2	5	6			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:30066700C>G	ENST00000331968.5	-	16	2660	c.2431G>C	c.(2431-2433)Gaa>Caa	p.E811Q	PRKD1_ENST00000415220.2_Missense_Mutation_p.E819Q	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	811	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATATTACCTTCATGAGATATT	0.279													12	66					0	0	0	0	G	30066700	C	G	30066700	3	3	198	1	0	0	0	0	1	0	0	0	12598	835	29	2	319	2	PRKD1	14	30066700	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	7932718	30066700	77282840	228	35544											
NPAS3	64067	broad.mit.edu	37	chr14	33684490	33684490	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagttgttgcctcttccTgcagccattaccagccagct	7	11	8	15	0	1	0	0	0	1	0	2	0	2	0	6	0	6	4	6	0	2	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:33684490T>A	ENST00000346562.2	+	2	227	c.153T>A	c.(151-153)ccT>ccA	p.P51P	NPAS3_ENST00000341321.4_Silent_p.P81P|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000551492.1_Silent_p.P88P|NPAS3_ENST00000357798.5_Silent_p.P51P|NPAS3_ENST00000356141.4_Silent_p.P81P|NPAS3_ENST00000548645.1_Silent_p.P51P	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGCCTCTTCCTGCAGCCATTA	0.493													17	103					0	0	0	0	A	33684490	T	A	33684490	2	1	198	1	0	0	0	0	0	0	0	1	10634	1567	55	5		5	NPAS3	14	33684490	Silent	SNP	T	TCGA-CR-7371-01A-11D-2012-08	3617790	33684490	73665050	229	35545											
MIPOL1	145282	broad.mit.edu	37	chr14	37754564	37754564	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgcagaaggaacgtgatGaagctgttatgtctagactg	11	11	13	6	2	1	4	0	2	1	2	1	5	1	5	0	1	3	3	0	1	5	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:37754564G>T	ENST00000327441.7	+	8	1001	c.535G>T	c.(535-537)Gaa>Taa	p.E179*	MIPOL1_ENST00000545536.1_Nonsense_Mutation_p.E148*|MIPOL1_ENST00000556451.1_Nonsense_Mutation_p.E148*|MIPOL1_ENST00000536774.1_5'UTR|MIPOL1_ENST00000537471.1_Nonsense_Mutation_p.E179*|MIPOL1_ENST00000396294.2_Nonsense_Mutation_p.E179*|MIPOL1_ENST00000539062.2_Nonsense_Mutation_p.E148*	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	179										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GGAACGTGATGAAGCTGTTAT	0.378													14	79					1.02788e-11	2.39319e-11	1	0	T	37754564	G	T	37754564	4	4	198	1	0	0	0	0	0	1	0	0	9662	1291	45	2	553	2	MIPOL1	14	37754564	Nonsense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	4070074	37754564	69594976	230	35546											
SSTR1	6751	broad.mit.edu	37	chr14	38679129	38679130	+	Frame_Shift_Ins	INS	-	-	T																															cgtggccaaggtagtaaaccINStgggcgtgtgggtgctatcg																										TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:38679129_38679130insT	ENST00000267377.2	+	3	1152_1153	c.535_536insT	c.(535-537)gggfs	p.G179fs		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	179					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GGTAGTAAACCTGGGCGTGTGG	0.644													10	49	---	---	---	---					T	38679130	-	T	38679129	7	5	198	1	0	1	1	0	0	0	0	0	15287	680	24	0	537	0	SSTR1	14	38679129	Frame_Shift_Ins	INS	-	TCGA-CR-7371-01A-11D-2012-08	924565	38679129	68670411	231	35547											
SSTR1	6751	broad.mit.edu	37	chr14	38679680	38679680	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcgctcaagagccgtgcCtacagtgtggaagacttcca	10	7	11	13	3	1	2	1	0	0	2	2	3	2	3	4	1	3	1	4	1	3	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:38679680C>A	ENST00000267377.2	+	3	1703	c.1086C>A	c.(1084-1086)gcC>gcA	p.A362A		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	362					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	AGAGCCGTGCCTACAGTGTGG	0.612													18	75					3.51602e-12	8.26156e-12	1	0	A	38679680	C	A	38679680	2	1	198	1	0	0	0	0	0	0	0	1	15287	668	24	4		4	SSTR1	14	38679680	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	551	38679680	68669860	232	35548											
LRFN5	145581	broad.mit.edu	37	chr14	42356976	42356976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccctcacttactaaataGtacaaaccatatccatgagc	14	10	4	13	0	1	1	1	1	0	0	3	1	3	1	3	0	4	2	3	0	7	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:42356976G>T	ENST00000554171.1	+	5	3580	c.1148G>T	c.(1147-1149)aGt>aTt	p.S383I	LRFN5_ENST00000554120.1_Missense_Mutation_p.S383I|LRFN5_ENST00000298119.4_Missense_Mutation_p.S383I			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	383						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTACTAAATAGTACAAACCAT	0.393										HNSCC(30;0.082)			10	56					1.58986e-06	3.38288e-06	1	0	T	42356976	G	T	42356976	3	4	198	1	0	0	0	0	1	0	0	0	9005	1029	36	4	1150	4	LRFN5	14	42356976	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	3677296	42356976	64992564	233	35549											
FSCB	84075	broad.mit.edu	37	chr14	44975712	44975712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccactatttctgattcaCtaaagtatgtctgttgttcc	10	17	5	9	0	3	1	1	1	2	0	4	1	4	1	2	0	1	3	2	0	5	8			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:44975712C>A	ENST00000340446.4	-	1	770	c.479G>T	c.(478-480)aGt>aTt	p.S160I		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	160						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTCTGATTCACTAAAGTATGT	0.418													29	157					1.13719e-10	2.56958e-10	1	0	A	44975712	C	A	44975712	3	1	198	1	0	0	0	0	1	0	0	0	6114	565	20	4	2002	4	FSCB	14	44975712	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	2618736	44975712	62373828	234	35550											
FSCB	84075	broad.mit.edu	37	chr14	44975773	44975773	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgttcatcatggtccAgtatcctgtacggctggtct	6	13	13	9	1	3	0	2	0	1	0	5	1	5	1	2	5	1	4	2	5	2	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:44975773A>T	ENST00000340446.4	-	1	709	c.418T>A	c.(418-420)Tgg>Agg	p.W140R		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	140						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ATCATGGTCCAGTATCCTGTA	0.423													39	164					0	0	0	0	T	44975773	A	T	44975773	3	4	198	1	0	0	0	0	1	0	0	0	6114	188	7	5	2063	5	FSCB	14	44975773	Missense_Mutation	SNP	A	TCGA-CR-7371-01A-11D-2012-08	61	44975773	62373767	235	35551											
FKBP3	2287	broad.mit.edu	37	chr14	45590112	45590112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctctgataactttgcctactCcgaccttaaaacttaaaggc	12	12	5	12	1	1	1	0	1	1	0	2	2	2	1	3	1	4	0	3	1	6	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:45590112C>G	ENST00000216330.3	-	6	910	c.500G>C	c.(499-501)gGa>gCa	p.G167A	FKBP3_ENST00000396062.3_Missense_Mutation_p.G167A			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	167	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TTTGCCTACTCCGACCTTAAA	0.333													3	61					0	0	0	0	G	45590112	C	G	45590112	3	3	198	1	0	0	0	0	1	0	0	0	5954	855	30	2	186	2	FKBP3	14	45590112	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	614339	45590112	61759428	236	35552											
FRMD6	122786	broad.mit.edu	37	chr14	52194577	52194577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgtgtcaggacactgctCagagttacacctttggatgt	8	13	11	9	0	3	1	2	0	1	1	3	3	3	3	1	2	2	2	1	2	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:52194577C>G	ENST00000395718.2	+	14	1960	c.1675C>G	c.(1675-1677)Cag>Gag	p.Q559E	FRMD6_ENST00000553556.1_Missense_Mutation_p.Q209E|FRMD6_ENST00000344768.5_Missense_Mutation_p.Q567E|FRMD6_ENST00000356218.4_Missense_Mutation_p.Q559E|FRMD6_ENST00000554167.1_Missense_Mutation_p.Q490E	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	567						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GGACACTGCTCAGAGTTACAC	0.502													11	45					0	0	0	0	G	52194577	C	G	52194577	3	3	198	1	0	0	0	0	1	0	0	0	6102	827	29	2	1725	2	FRMD6	14	52194577	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	6604465	52194577	55154963	237	35553											
ABCD4	5826	broad.mit.edu	37	chr14	74761852	74761852	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatctctccagactcaccTgtagaaagcagcaggctccg	11	7	8	15	1	2	2	1	0	1	2	5	2	4	2	4	1	2	4	4	1	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:74761852T>A	ENST00000356924.4	-	7	861	c.719_splice	c.e7+1	p.R240_splice	ABCD4_ENST00000298816.7_Intron|ABCD4_ENST00000557588.1_Splice_Site_p.S198_splice|ABCD4_ENST00000557554.1_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	240	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CAGACTCACCTGTAGAAAGCA	0.562													17	54					0	0	0	0	A	74761852	T	A	74761852	5	1	198	1	0	0	0	0	0	0	1	0	63	1594	55	5	1154	5	ABCD4	14	74761852	Splice_Site	SNP	T	TCGA-CR-7371-01A-11D-2012-08	22567275	74761852	32587688	238	35554											
KCNK10	54207	broad.mit.edu	37	chr14	88707107	88707107	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaggtcccagtggctgcTgttgttggaagagtttccta	6	12	14	9	1	0	1	0	0	0	1	2	3	2	2	3	3	1	5	3	3	2	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:88707107T>A	ENST00000340700.5	-	3	896	c.445A>T	c.(445-447)Agc>Tgc	p.S149C	KCNK10_ENST00000312350.5_Missense_Mutation_p.S154C|KCNK10_ENST00000319231.5_Missense_Mutation_p.S154C	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	149					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CAGTGGCTGCTGTTGTTGGAA	0.458													27	105					0	0	0	0	A	88707107	T	A	88707107	3	1	198	1	0	0	0	0	1	0	0	0	8112	1580	55	5	1191	5	KCNK10	14	88707107	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	13945255	88707107	18642433	239	35555											
SPATA7	55812	broad.mit.edu	37	chr14	88904701	88904701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaaggcgacaataatcatGacatggagttatcaactctt	15	11	7	8	1	4	1	3	1	1	0	4	3	4	2	0	2	1	1	0	2	5	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:88904701G>C	ENST00000556553.1	+	12	2198	c.1639G>C	c.(1639-1641)Gac>Cac	p.D547H	SPATA7_ENST00000045347.7_Missense_Mutation_p.D438H|SPATA7_ENST00000393545.4_Missense_Mutation_p.D579H|SPATA7_ENST00000356583.5_Missense_Mutation_p.D547H			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	579					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CAATAATCATGACATGGAGTT	0.383													7	28					0	0	0	0	C	88904701	G	C	88904701	3	2	198	1	0	0	0	0	1	0	0	0	15104	1290	45	2	1781	2	SPATA7	14	88904701	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	197594	88904701	18444839	240	35556											
TTC8	123016	broad.mit.edu	37	chr14	89305909	89305909	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgaaaatgctatagctcaAgttccacgtaagtattgggt	13	12	10	6	1	1	1	1	1	0	0	2	2	2	1	1	1	2	5	1	1	7	6			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:89305909A>G	ENST00000338104.6	+	2	280	c.228A>G	c.(226-228)caA>caG	p.Q76Q	TTC8_ENST00000354441.6_Intron|TTC8_ENST00000380656.2_Silent_p.Q86Q|TTC8_ENST00000346301.4_Silent_p.Q76Q|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000345383.5_Silent_p.Q76Q			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	86					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CTATAGCTCAAGTTCCACGTA	0.328													6	45					0	0	0	0	G	89305909	A	G	89305909	2	3	198	1	0	0	0	0	0	0	0	1	16810	69	3	5		5	TTC8	14	89305909	Silent	SNP	A	TCGA-CR-7371-01A-11D-2012-08	401208	89305909	18043631	241	35557											
CCDC88C	440193	broad.mit.edu	37	chr14	91780146	91780146	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagtccggttctccagctGcaggccctggctctcatgct	5	10	11	15	1	2	1	1	0	2	1	5	1	3	1	3	3	3	5	3	3	0	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:91780146G>A	ENST00000389857.6	-	15	2100	c.2014C>T	c.(2014-2016)Cag>Tag	p.Q672*		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	672					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTCTCCAGCTGCAGGCCCTGG	0.627													6	15					0	0	0	0	A	91780146	G	A	91780146	4	1	198	1	0	0	0	0	0	1	0	0	2892	1328	46	4	4136	4	CCDC88C	14	91780146	Nonsense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	2474237	91780146	15569394	242	35558											
PAPOLA	10914	broad.mit.edu	37	chr14	97022574	97022574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatttctccaccaccaaagCctacggtctccagagttgtt	9	11	6	15	1	2	1	0	0	2	1	4	1	2	1	6	1	2	2	6	1	2	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:97022574C>T	ENST00000216277.8	+	19	2048	c.1828C>T	c.(1828-1830)Cct>Tct	p.P610S	PAPOLA_ENST00000392990.2_Missense_Mutation_p.P610S	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	610	Ser/Thr-rich.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCACCAAAGCCTACGGTCTC	0.418													22	86					0	0	0	0	T	97022574	C	T	97022574	3	4	198	1	0	0	0	0	1	0	0	0	11500	739	26	4	1902	4	PAPOLA	14	97022574	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	5242428	97022574	10326966	243	35559											
DIO3	1735	broad.mit.edu	37	chr14	102028010	102028010	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcggcacggccttcatgctCtggcttctcgatttcttgtg	3	15	10	13	3	4	0	1	0	3	0	6	1	4	0	1	3	1	3	1	3	0	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:102028010C>G	ENST00000510508.4	+	1	323	c.177C>G	c.(175-177)ctC>ctG	p.L59L	DIO3_ENST00000359323.3_Silent_p.L33L			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	33					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CCTTCATGCTCTGGCTTCTCG	0.657													10	77					0	0	0	0	G	102028010	C	G	102028010	2	3	198	1	0	0	0	0	0	0	0	1	4563	900	32	2		2	DIO3	14	102028010	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	5005436	102028010	5321530	244	35560											
MAGEL2	54551	broad.mit.edu	37	chr15	23890179	23890179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccctgccagtcatgaaagGctagcgtgtggccacggctg	7	7	15	12	2	1	1	1	1	0	0	1	1	1	1	3	4	2	2	3	4	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr15:23890179G>A	ENST00000532292.1	-	1	996	c.902C>T	c.(901-903)gCc>gTc	p.A301V		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GTCATGAAAGGCTAGCGTGTG	0.627													18	46					0	0	0	0	A	23890179	G	A	23890179	3	1	198	1	0	0	0	0	1	0	0	0	9258	1203	42	4	1042	4	MAGEL2	15	23890179	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08		23890179	78641213	245	35561											
TTBK2	146057	broad.mit.edu	37	chr15	43067454	43067454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgttctgaagcagcagtaGgaggaccctctgcagaaagt	12	9	12	8	0	2	2	0	1	2	1	2	4	2	4	1	2	3	5	1	2	3	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr15:43067454G>A	ENST00000267890.6	-	13	1985	c.1877C>T	c.(1876-1878)cCt>cTt	p.P626L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	626					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGCAGCAGTAGGAGGACCCTC	0.488													63	67					0	0	0	0	A	43067454	G	A	43067454	3	1	198	1	0	0	0	0	1	0	0	0	16773	1000	35	4	1869	4	TTBK2	15	43067454	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	19177275	43067454	59463938	246	35562											
USP8	9101	broad.mit.edu	37	chr15	50786338	50786338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catgaaagccctgtggacagGacagtatagatatatcagtc	14	9	10	8	0	1	2	1	1	0	1	2	4	1	4	1	2	1	1	1	2	5	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr15:50786338G>A	ENST00000433963.1	+	17	3019	c.2519G>A	c.(2518-2520)gGa>gAa	p.G840E	USP8_ENST00000307179.4_Missense_Mutation_p.G840E|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000396444.3_Missense_Mutation_p.G840E|USP8_ENST00000425032.3_Missense_Mutation_p.G734E	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	840					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTGTGGACAGGACAGTATAGA	0.383													19	87					0	0	0	0	A	50786338	G	A	50786338	3	1	198	1	0	0	0	0	1	0	0	0	17185	1174	41	2	2577	2	USP8	15	50786338	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	7718884	50786338	51745054	247	35563											
NOX5	79400	broad.mit.edu	37	chr15	69335123	69335123	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgaggagtgtgacaatgaGaaagagtcaaaggtcgtcca	14	7	14	6	2	1	3	1	2	0	2	4	6	2	4	1	2	0	0	1	2	3	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr15:69335123G>C	ENST00000260364.5	+	11	1872	c.1571G>C	c.(1570-1572)aGa>aCa	p.R524T	NOX5_ENST00000455873.3_Missense_Mutation_p.R507T|NOX5_ENST00000388866.3_Missense_Mutation_p.R542T|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_Missense_Mutation_p.R514T|NOX5_ENST00000448182.3_Missense_Mutation_p.R496T			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	542	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GTGACAATGAGAAAGAGTCAA	0.552													19	17					0	0	0	0	C	69335123	G	C	69335123	3	2	198	1	0	0	0	0	1	0	0	0	10629	942	33	2	1696	2	NOX5	15	69335123	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	18548785	69335123	33196269	248	35564											
LINGO1	84894	broad.mit.edu	37	chr15	77906424	77906424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacttgcggggcgcgtcggCggagctgatgcctgcgtccg	4	7	18	12	7	0	1	0	1	0	0	2	3	1	2	2	4	5	1	2	4	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr15:77906424C>A	ENST00000355300.6	-	2	1999	c.1825G>T	c.(1825-1827)Gcc>Tcc	p.A609S	LINGO1_ENST00000561030.1_Missense_Mutation_p.A603S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	609					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGCGCGTCGGCGGAGCTGATG	0.672													10	15					2.17888e-05	4.53538e-05	1	0	A	77906424	C	A	77906424	3	1	198	1	0	0	0	0	1	0	0	0	8869	768	27	3	41	3	LINGO1	15	77906424	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	8571301	77906424	24624968	249	35565											
ADAMTS17	170691	broad.mit.edu	37	chr15	100672232	100672232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggggttgtcacatttcctCtgcctgaagcgggctcccgt	4	11	14	12	2	2	1	1	1	1	0	4	1	4	1	3	4	2	2	3	4	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr15:100672232C>G	ENST00000268070.4	-	12	1806	c.1701G>C	c.(1699-1701)caG>caC	p.Q567H		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	567	TSP type-1 1.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CACATTTCCTCTGCCTGAAGC	0.627											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	79					0	0	0	0	G	100672232	C	G	100672232	3	3	198	1	0	0	0	0	1	0	0	0	262	912	32	2	1630	2	ADAMTS17	15	100672232	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	22765808	100672232	1859160	250	35566											
RPL3L	6123	broad.mit.edu	37	chr16	1996719	1996719	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcgggcccctgccgatGcggaagatctgccagaaggg	8	6	16	11	3	1	2	0	0	1	2	1	4	1	3	4	3	4	0	4	3	2	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:1996719G>C	ENST00000268661.7	-	7	952	c.858C>G	c.(856-858)cgC>cgG	p.R286R		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	286					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCCTGCCGATGCGGAAGATCT	0.632													8	28					0	0	0	0	C	1996719	G	C	1996719	2	2	198	1	0	0	0	0	0	0	0	1	13679	1306	46	4		4	RPL3L	16	1996719	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08		1996719	88358034	251	35567											
CLEC16A	23274	broad.mit.edu	37	chr16	11071128	11071128	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctggtggcagagcacctaGaccacctgcactatctcaat	11	9	8	13	0	2	2	1	0	2	2	3	2	2	2	3	2	2	3	3	2	3	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:11071128G>C	ENST00000409790.1	+	8	1005	c.775G>C	c.(775-777)Gac>Cac	p.D259H	CLEC16A_ENST00000409552.3_Missense_Mutation_p.D257H	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	259										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGAGCACCTAGACCACCTGCA	0.537													11	69					0	0	0	0	C	11071128	G	C	11071128	3	2	198	1	0	0	0	0	1	0	0	0	3530	942	33	2	801	2	CLEC16A	16	11071128	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	9074409	11071128	79283625	252	35568											
ITGAL	3683	broad.mit.edu	37	chr16	30518132	30518132	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactgggtccagctggacctGcacttccccccgggactctc	5	9	10	17	1	1	0	0	0	1	0	4	2	3	2	5	3	3	2	5	3	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:30518132G>C	ENST00000356798.6	+	21	2643	c.2463G>C	c.(2461-2463)ctG>ctC	p.L821L	ITGAL_ENST00000358164.5_Silent_p.L737L|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	821					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGCTGGACCTGCACTTCCCCC	0.602													33	180					0	0	0	0	C	30518132	G	C	30518132	2	2	198	1	0	0	0	0	0	0	0	1	7939	1306	46	4		4	ITGAL	16	30518132	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	19447004	30518132	59836621	253	35569											
ZNF668	79759	broad.mit.edu	37	chr16	31073227	31073227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccacgaacgtcttgtcaCattgcaggcacttgaacggc	10	8	10	13	4	2	1	1	1	1	0	2	2	2	1	1	2	3	2	1	2	2	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:31073227C>T	ENST00000538906.1	-	3	1806	c.1022G>A	c.(1021-1023)tGt>tAt	p.C341Y	ZNF668_ENST00000539836.3_Missense_Mutation_p.C364Y|ZNF668_ENST00000535577.1_Missense_Mutation_p.C341Y|ZNF668_ENST00000417110.2_Missense_Mutation_p.H139Y|ZNF668_ENST00000426488.2_Missense_Mutation_p.C364Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.C341Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.C341Y	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGTCTTGTCACATTGCAGGCA	0.677													13	59					0	0	0	0	T	31073227	C	T	31073227	3	4	198	1	0	0	0	0	1	0	0	0	18170	478	17	4	841	4	ZNF668	16	31073227	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	555095	31073227	59281526	254	35570											
C16orf58	64755	broad.mit.edu	37	chr16	31502206	31502206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatgtggccctccactcatCcacctctagctggtgcttct	5	12	7	17	0	3	0	1	0	2	0	5	0	5	0	5	2	2	2	5	2	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:31502206C>T	ENST00000327237.2	-	13	1396	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N	C16orf58_ENST00000567994.1_Missense_Mutation_p.D408N|C16orf58_ENST00000570164.1_Missense_Mutation_p.D451N			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	453				D -> G (in Ref. 1; BAB14730).		integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						CTCCACTCATCCACCTCTAGC	0.612													20	71					0	0	0	0	T	31502206	C	T	31502206	3	4	198	1	0	0	0	0	1	0	0	0	1835	855	30	2	53	2	C16orf58	16	31502206	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	428979	31502206	58852547	255	35571											
CSNK2A2	1459	broad.mit.edu	37	chr16	58198043	58198043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggctgggactgctccttcaCcacagggtctgcaagaaagc	10	7	12	12	0	2	1	1	0	1	1	3	2	3	2	2	3	3	3	2	3	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:58198043C>A	ENST00000262506.3	-	11	1168	c.985G>T	c.(985-987)Gtg>Ttg	p.V329L	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	329					axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						TGCTCCTTCACCACAGGGTCT	0.547													13	58					1.61879e-10	3.63635e-10	1	0	A	58198043	C	A	58198043	3	1	198	1	0	0	0	0	1	0	0	0	3990	507	18	4	71	4	CSNK2A2	16	58198043	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	26695837	58198043	32156710	256	35572											
CALB2	794	broad.mit.edu	37	chr16	71406097	71406097	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagctagaaaactttttcCaagagctggagaaggcaagg	16	7	12	6	0	0	4	0	0	0	4	1	5	1	4	1	3	3	3	1	3	7	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:71406097C>T	ENST00000302628.4	+	2	213	c.136C>T	c.(136-138)Caa>Taa	p.Q46*	CALB2_ENST00000349553.5_Nonsense_Mutation_p.Q46*	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	46	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AAACTTTTTCCAAGAGCTGGA	0.458													13	58					0	0	0	0	T	71406097	C	T	71406097	4	4	198	1	0	0	0	0	0	1	0	0	2599	595	21	4	142	4	CALB2	16	71406097	Nonsense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	13208054	71406097	18948656	257	35573											
USP10	9100	broad.mit.edu	37	chr16	84808830	84808830	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacctatcggctctttgcAggtgagtaaatttgtacgac	10	12	10	9	3	1	1	0	1	1	0	2	3	1	1	1	2	3	4	1	2	5	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:84808830A>T	ENST00000219473.7	+	13	2321	c.2209_splice	c.e13+1	p.A736_splice	USP10_ENST00000570191.1_Splice_Site_p.A740_splice	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	736					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGCTCTTTGCAGGTGAGTAAA	0.403													19	58					0	0	0	0	T	84808830	A	T	84808830	5	4	198	1	0	0	0	0	0	0	1	0	17137	202	7	5	2258	5	USP10	16	84808830	Splice_Site	SNP	A	TCGA-CR-7371-01A-11D-2012-08	13402733	84808830	5545923	258	35574											
USP6	9098	broad.mit.edu	37	chr17	5036229	5036229	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcggcgggagatgacacgaAcgagcaagtggatggaaatg	13	6	16	6	4	0	2	0	1	0	1	1	7	0	4	0	4	2	1	0	4	3	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:5036229A>G	ENST00000574788.1	+	13	2450	c.220A>G	c.(220-222)Acg>Gcg	p.T74A	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.T74A|USP6_ENST00000332776.4_Missense_Mutation_p.T74A|USP6_ENST00000572429.1_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	74					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GATGACACGAACGAGCAAGTG	0.532			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								3	153					0	0	0	0	G	5036229	A	G	5036229	3	3	198	1	0	0	0	0	1	0	0	0	17182	43	2	5	234	5	USP6	17	5036229	Missense_Mutation	SNP	A	TCGA-CR-7371-01A-11D-2012-08		5036229	76158981	259	35575											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	36					0	0	0	0	T	7578406	C	T	7578406	3	4	198	1	0	0	0	0	1	0	0	0	16476	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	2542177	7578406	73616804	260	35576											
NTN1	9423	broad.mit.edu	37	chr17	9143248	9143248	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggctgcgcaagttccAgcagcgtgagaagaagggca	10	4	17	10	4	0	2	0	1	0	2	1	3	1	2	1	3	3	5	1	3	3	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:9143248A>G	ENST00000173229.2	+	7	1885	c.1778A>G	c.(1777-1779)cAg>cGg	p.Q593R	NTN1_ENST00000538852.1_Missense_Mutation_p.Q593R|NTN1_ENST00000546090.1_Missense_Mutation_p.Q593R	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	593	NTR.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CGCAAGTTCCAGCAGCGTGAG	0.721													3	13					0	0	0	0	G	9143248	A	G	9143248	3	3	198	1	0	0	0	0	1	0	0	0	10771	188	7	5	1800	5	NTN1	17	9143248	Missense_Mutation	SNP	A	TCGA-CR-7371-01A-11D-2012-08	1564842	9143248	72051962	261	35577											
MYH13	8735	broad.mit.edu	37	chr17	10213055	10213055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctcgatttcttcatcCttctcaatgaccttgcggtc	6	15	7	13	2	3	1	2	1	2	0	7	2	4	1	2	1	3	2	2	1	1	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:10213055C>A	ENST00000418404.3	-	33	4912	c.4749G>T	c.(4747-4749)aaG>aaT	p.K1583N	MYH13_ENST00000570743.1_Missense_Mutation_p.K1583N|MYH13_ENST00000252172.4_Missense_Mutation_p.K1583N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1583					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTCTTCATCCTTCTCAATGA	0.562													3	7					6.4e-05	0.000131785	1	0	A	10213055	C	A	10213055	3	1	198	1	0	0	0	0	1	0	0	0	10102	680	24	4	1099	4	MYH13	17	10213055	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	1069807	10213055	70982155	262	35578											
NOS2	4843	broad.mit.edu	37	chr17	26107912	26107912	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagcggccgtacttgggcttCcagcccaggtcgatgcacag	8	7	13	13	3	0	0	0	0	0	0	2	1	1	0	3	3	4	3	3	3	2	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:26107912C>T	ENST00000313735.6	-	9	1118	c.885G>A	c.(883-885)tgG>tgA	p.W295*		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	295					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ACTTGGGCTTCCAGCCCAGGT	0.627													11	39					0	0	0	0	T	26107912	C	T	26107912	4	4	198	1	0	0	0	0	0	1	0	0	10613	856	30	2	2652	2	NOS2	17	26107912	Nonsense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	15894857	26107912	55087298	263	35579											
LRRC46	90506	broad.mit.edu	37	chr17	45914142	45914142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggagctggagcaggagCtgagcaggcacagggagcac	12	3	17	9	0	1	1	1	1	0	0	1	5	1	5	0	5	5	6	0	5	1	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:45914142C>A	ENST00000269025.4	+	8	985	c.622C>A	c.(622-624)Ctg>Atg	p.L208M		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	208										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGAGCAGGAGCTGAGCAGGCA	0.687													5	41					0.00116845	0.00233689	1	0	A	45914142	C	A	45914142	3	1	198	1	0	0	0	0	1	0	0	0	9067	796	28	4	652	4	LRRC46	17	45914142	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	19806230	45914142	35281068	264	35580											
NFE2L1	4779	broad.mit.edu	37	chr17	46135825	46135825	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttactcttcagccccGaggtggaaagcctgcctgtg	7	11	10	13	1	3	0	1	0	2	0	3	2	3	1	4	2	4	0	4	2	2	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:46135825G>T	ENST00000362042.3	+	6	1757	c.1141G>T	c.(1141-1143)Gag>Tag	p.E381*	NFE2L1_ENST00000585291.1_Nonsense_Mutation_p.E351*|NFE2L1_ENST00000361665.3_Nonsense_Mutation_p.E370*|NFE2L1_ENST00000357480.5_Nonsense_Mutation_p.E351*|NFE2L1_ENST00000536222.1_Nonsense_Mutation_p.E225*|NFE2L1_ENST00000582155.1_Nonsense_Mutation_p.E193*|NFE2L1_ENST00000583378.1_Nonsense_Mutation_p.E182*	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	381					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTCAGCCCCGAGGTGGAAAG	0.607													32	85					9.78306e-22	2.40959e-21	1	0	T	46135825	G	T	46135825	4	4	198	1	0	0	0	0	0	1	0	0	10437	1059	37	3	1159	3	NFE2L1	17	46135825	Nonsense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	221683	46135825	35059385	265	35581											
TTLL6	284076	broad.mit.edu	37	chr17	46867429	46867429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accatctttcacctctttatCcaaccgagagtcggtggaga	10	11	8	12	2	3	2	1	0	2	2	5	4	4	2	4	2	1	0	4	2	2	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:46867429C>T	ENST00000393382.3	-	10	1405	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	TTLL6_ENST00000433608.2_Missense_Mutation_p.D115N	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	374						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ACCTCTTTATCCAACCGAGAG	0.512													19	68					0	0	0	0	T	46867429	C	T	46867429	3	4	198	1	0	0	0	0	1	0	0	0	16827	855	30	2	1435	2	TTLL6	17	46867429	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	731604	46867429	34327781	266	35582											
C17orf47	284083	broad.mit.edu	37	chr17	56620420	56620420	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtaatttctgggggtttttgGgtttgctgtttatagatggg	5	19	15	2	0	1	1	0	0	1	1	1	1	1	1	0	4	1	5	0	4	3	8			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:56620420G>C	ENST00000321691.3	-	1	1309	c.1128C>G	c.(1126-1128)acC>acG	p.T376T	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	376										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGTTTTTGGGTTTGCTGTT	0.493													13	61					0	0	0	0	C	56620420	G	C	56620420	2	2	198	1	0	0	0	0	0	0	0	1	1873	1219	43	4		4	C17orf47	17	56620420	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	9752991	56620420	24574790	267	35583											
ERN1	2081	broad.mit.edu	37	chr17	62122729	62122729	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcatgatcacctgtctggagGgggacagtgatgttctcccg	7	10	14	10	1	3	2	1	2	2	0	4	4	3	4	2	3	0	2	2	3	0	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:62122729G>A	ENST00000433197.2	-	20	2738	c.2643C>T	c.(2641-2643)ccC>ccT	p.P881P		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	881	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTGTCTGGAGGGGGACAGTGA	0.562													6	37					0	0	0	0	A	62122729	G	A	62122729	2	1	198	1	0	0	0	0	0	0	0	1	5275	1219	43	4		4	ERN1	17	62122729	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	5502309	62122729	19072481	268	35584											
GPR142	350383	broad.mit.edu	37	chr17	72368159	72368159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgcaccatcgggccgcctCgtccccaggccggacccgcc	4	4	11	22	5	0	0	0	0	0	0	3	1	1	1	9	3	1	1	9	3	0	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:72368159C>T	ENST00000335666.4	+	4	857	c.809C>T	c.(808-810)tCg>tTg	p.S270L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	270						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CGGGCCGCCTCGTCCCCAGGC	0.657													5	24					0	0	0	0	T	72368159	C	T	72368159	3	4	198	1	0	0	0	0	1	0	0	0	6699	893	31	1	823	1	GPR142	17	72368159	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	10245430	72368159	8827051	269	35585											
GPRC5C	55890	broad.mit.edu	37	chr17	72443133	72443133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgaaagacggcaagaactCtcaggtctttagaaacccct	13	7	9	12	2	2	3	1	0	2	3	3	4	2	3	3	2	2	1	3	2	5	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:72443133C>G	ENST00000392627.1	+	4	2553	c.1427C>G	c.(1426-1428)tCt>tGt	p.S476C	GPRC5C_ENST00000392629.2_Missense_Mutation_p.S443C|GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.S116C|GPRC5C_ENST00000582873.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	431						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.S443C(1)|p.S476C(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GGCAAGAACTCTCAGGTCTTT	0.652													16	91					0	0	0	0	G	72443133	C	G	72443133	3	3	198	1	0	0	0	0	1	0	0	0	6776	913	32	2	1449	2	GPRC5C	17	72443133	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	74974	72443133	8752077	270	35586											
CASKIN2	57513	broad.mit.edu	37	chr17	73498200	73498200	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttaacagtgtctgattcCgtgaggttgaaatcgaggcc	9	11	12	9	3	1	3	0	3	1	0	3	4	2	3	2	2	1	2	2	2	2	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:73498200C>A	ENST00000321617.3	-	18	3541	c.2955G>T	c.(2953-2955)acG>acT	p.T985T	CASKIN2_ENST00000433559.2_Silent_p.T903T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	985	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTCTGATTCCGTGAGGTTGA	0.667													17	71					4.96729e-08	1.08095e-07	1	0	A	73498200	C	A	73498200	2	1	198	1	0	0	0	0	0	0	0	1	2692	639	23	3		3	CASKIN2	17	73498200	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	1055067	73498200	7697010	271	35587											
EPB41L3	23136	broad.mit.edu	37	chr18	5397146	5397146	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgggaagcagcggctgtctCttcctgttccaggacagctt	7	10	12	12	2	1	0	0	0	1	0	4	2	3	2	2	3	3	4	2	3	1	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr18:5397146C>G	ENST00000341928.2	-	18	3092	c.2752G>C	c.(2752-2754)Gag>Cag	p.E918Q	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E215Q|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E223Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E696Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E749Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E918Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E696Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	918	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCGGCTGTCTCTTCCTGTTCC	0.522													6	136					0	0	0	0	G	5397146	C	G	5397146	3	3	198	1	0	0	0	0	1	0	0	0	5192	922	32	2	531	2	EPB41L3	18	5397146	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08		5397146	72680102	272	35588											
ZNF521	25925	broad.mit.edu	37	chr18	22806305	22806305	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatatgctcttccagggaaGagtcagtgagaaaccccata	14	9	9	9	0	2	2	1	1	1	2	3	4	3	3	3	1	2	1	3	1	5	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr18:22806305G>C	ENST00000361524.3	-	4	1725	c.1577C>G	c.(1576-1578)tCt>tGt	p.S526C	ZNF521_ENST00000584787.1_Missense_Mutation_p.S306C|ZNF521_ENST00000538137.2_Missense_Mutation_p.S526C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	526					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTCCAGGGAAGAGTCAGTGAG	0.468			T	PAX5	ALL								7	70					0	0	0	0	C	22806305	G	C	22806305	3	2	198	1	0	0	0	0	1	0	0	0	18060	942	33	2	2378	2	ZNF521	18	22806305	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	17409159	22806305	55270943	273	35589											
MOCOS	55034	broad.mit.edu	37	chr18	33828964	33828964	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagggtctgtgctgacagGtgagactctgaagcacgtga	10	8	15	8	1	2	4	0	4	2	1	2	5	2	4	0	2	3	3	0	2	1	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr18:33828964G>T	ENST00000261326.5	+	10	2060		c.e10+1			NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase						Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GTGCTGACAGGTGAGACTCTG	0.473													7	21					8.12818e-05	0.00016559	1	0	T	33828964	G	T	33828964	5	4	198	1	0	0	0	0	0	0	1	0	9759	1275	44	4	2078	4	MOCOS	18	33828964	Splice_Site	SNP	G	TCGA-CR-7371-01A-11D-2012-08	11022659	33828964	44248284	274	35590											
FAM69C	125704	broad.mit.edu	37	chr18	72103843	72103843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttcccactggggaccccagGgtctgcacattcctgcaccg	6	8	11	16	1	1	0	0	0	1	0	3	1	3	1	5	3	2	3	5	3	0	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr18:72103843G>C	ENST00000343998.6	-	4	1161	c.1153C>G	c.(1153-1155)Cct>Gct	p.P385A	FAM69C_ENST00000400291.2_Missense_Mutation_p.P86A	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	385						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(2)|ovary(2)	5						GGGACCCCAGGGTCTGCACAT	0.587													6	21					0	0	0	0	C	72103843	G	C	72103843	3	2	198	1	0	0	0	0	1	0	0	0	5650	1232	43	4	110	4	FAM69C	18	72103843	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	38274879	72103843	5973405	275	35591											
POLRMT	5442	broad.mit.edu	37	chr19	619032	619032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgatagggctggatgaCggggacgcccaggggtgtga	8	5	20	8	3	0	2	0	2	0	0	0	5	0	4	1	7	0	1	1	7	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:619032C>T	ENST00000588649.2	-	15	3316	c.3232G>A	c.(3232-3234)Gtc>Atc	p.V1078I		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1078	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGCTGGATGACGGGGACGCCC	0.632													4	19					0	0	0	0	T	619032	C	T	619032	3	4	198	1	0	0	0	0	1	0	0	0	12310	536	19	1	488	1	POLRMT	19	619032	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08		619032	58509951	276	35592											
ABCA7	10347	broad.mit.edu	37	chr19	1043352	1043352	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccccgcctgctcggagctGattggagccctggacagcca	6	6	14	15	2	0	1	0	1	0	0	1	4	0	4	5	4	4	2	5	4	0	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:1043352G>C	ENST00000263094.6	+	9	1041	c.810G>C	c.(808-810)ctG>ctC	p.L270L	ABCA7_ENST00000435683.2_Silent_p.L132L|ABCA7_ENST00000433129.1_Silent_p.L270L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	270					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.L270L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GCTCGGAGCTGATTGGAGCCC	0.627													12	79					0	0	0	0	C	1043352	G	C	1043352	2	2	198	1	0	0	0	0	0	0	0	1	37	1277	45	2		2	ABCA7	19	1043352	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	424320	1043352	58085631	277	35593											
FZR1	51343	broad.mit.edu	37	chr19	3527705	3527705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaggtgctggacgcgcccGagctgcaggacgacttctac	8	7	13	13	4	2	0	1	0	1	0	2	4	2	2	1	3	4	3	1	3	2	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:3527705G>A	ENST00000441788.2	+	7	783	c.547G>A	c.(547-549)Gag>Aag	p.E183K	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000395095.3_Missense_Mutation_p.E183K	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	183					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACGCGCCCGAGCTGCAGGA	0.632													6	42					0	0	0	0	A	3527705	G	A	3527705	3	1	198	1	0	0	0	0	1	0	0	0	6186	1059	37	1	569	1	FZR1	19	3527705	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	2484353	3527705	55601278	278	35594											
SEMA6B	10501	broad.mit.edu	37	chr19	4548323	4548323	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggaagacactgagcccaGacgtccctgaggtgctggca	10	5	13	13	1	0	4	0	2	0	2	1	5	1	5	3	3	2	2	3	3	1	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:4548323G>C	ENST00000586582.1	-	13	1716	c.1406C>G	c.(1405-1407)tCt>tGt	p.S469C	SEMA6B_ENST00000586965.1_Missense_Mutation_p.S469C|SEMA6B_ENST00000301293.3_Missense_Mutation_p.S469C	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	469	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGAGCCCAGACGTCCCTGA	0.647													8	61					0	0	0	0	C	4548323	G	C	4548323	3	2	198	1	0	0	0	0	1	0	0	0	14127	942	33	2	1280	2	SEMA6B	19	4548323	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1020618	4548323	54580660	279	35595											
FEM1A	55527	broad.mit.edu	37	chr19	4792971	4792971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctgatcaccgacccggatGagatgcgcatgcaggccctg	8	6	13	14	4	1	2	1	2	0	1	1	5	1	3	3	2	2	3	3	2	0	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:4792971G>A	ENST00000269856.3	+	1	1244	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	369					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CGACCCGGATGAGATGCGCAT	0.632													16	61					0	0	0	0	A	4792971	G	A	4792971	3	1	198	1	0	0	0	0	1	0	0	0	5854	1291	45	2	1107	2	FEM1A	19	4792971	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	244648	4792971	54336012	280	35596											
CLEC4M	10332	broad.mit.edu	37	chr19	7830679	7830679	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccagctgaaggctgcagtgGgtgagttgccagagaaatcc	10	7	14	10	0	0	3	0	2	0	1	1	4	1	3	3	2	3	4	3	2	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:7830679G>C	ENST00000327325.5	+	4	488	c.370G>C	c.(370-372)Ggt>Cgt	p.G124R	CLEC4M_ENST00000359059.5_Missense_Mutation_p.G103R|CLEC4M_ENST00000357361.2_Missense_Mutation_p.G124R|CLEC4M_ENST00000394122.2_Missense_Mutation_p.G112R|CLEC4M_ENST00000596363.1_Missense_Mutation_p.G96R|CLEC4M_ENST00000248228.4_Splice_Site_p.V124_splice|CLEC4M_ENST00000334806.5_Missense_Mutation_p.G96R|CLEC4M_ENST00000597522.1_Missense_Mutation_p.G124R|CLEC4M_ENST00000595496.1_Missense_Mutation_p.G103R|CLEC4M_ENST00000596707.1_Missense_Mutation_p.G103R	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	124	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GGCTGCAGTGGGTGAGTTGCC	0.562													26	153					0	0	0	0	C	7830679	G	C	7830679	3	2	198	1	0	0	0	0	1	0	0	0	3548	1232	43	4	405	4	CLEC4M	19	7830679	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	3037708	7830679	51298304	281	35597											
MUC16	94025	broad.mit.edu	37	chr19	9056573	9056573	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggctcgtggaactccagtGgtggcaaatgaagtcatggc	10	9	14	8	1	1	1	1	1	0	0	3	2	2	2	1	5	1	2	1	5	3	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:9056573G>A	ENST00000397910.4	-	3	31076	c.30873C>T	c.(30871-30873)acC>acT	p.T10291T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10293	Ser-rich.|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						GAACTCCAGTGGTGGCAAATG	0.517													10	92					0	0	0	0	A	9056573	G	A	9056573	2	1	198	1	0	0	0	0	0	0	0	1	10043	1335	47	4		4	MUC16	19	9056573	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1225894	9056573	50072410	282	35598											
MUC16	94025	broad.mit.edu	37	chr19	9068476	9068476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatgtggctttatatgggtCtgagtcaggtgagacagtaa	10	12	15	4	0	2	2	1	2	1	1	2	4	2	3	0	4	0	2	0	4	3	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:9068476C>T	ENST00000397910.4	-	3	19173	c.18970G>A	c.(18970-18972)Gac>Aac	p.D6324N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6326	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						TTATATGGGTCTGAGTCAGGT	0.443													9	79					0	0	0	0	T	9068476	C	T	9068476	3	4	198	1	0	0	0	0	1	0	0	0	10043	913	32	2	24881	2	MUC16	19	9068476	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	11903	9068476	50060507	283	35599											
ZNF136	7695	broad.mit.edu	37	chr19	12297490	12297490	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaagaaaatccctggagtGaaactctgtgaaagcattgt	15	9	10	7	0	1	3	0	2	1	1	2	4	2	4	1	1	3	2	1	1	5	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:12297490G>A	ENST00000343979.4	+	4	437	c.297G>A	c.(295-297)gtG>gtA	p.V99V	ZNF136_ENST00000398616.2_Silent_p.V33V	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	99					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TCCCTGGAGTGAAACTCTGTG	0.398													5	33					0	0	0	0	A	12297490	G	A	12297490	2	1	198	1	0	0	0	0	0	0	0	1	17821	1277	45	2		2	ZNF136	19	12297490	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	3229014	12297490	46831493	284	35600											
CYP4F3	4051	broad.mit.edu	37	chr19	15754740	15754740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccccacggagcagggcatGagggtcctgactcagctggt	8	6	14	13	1	1	2	1	2	0	0	2	3	2	3	3	4	2	3	3	4	0	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:15754740G>A	ENST00000591058.1	+	3	269	c.222G>A	c.(220-222)atG>atA	p.M74I	CYP4F3_ENST00000585846.1_Missense_Mutation_p.M74I|CYP4F3_ENST00000586182.1_Missense_Mutation_p.M74I|CYP4F3_ENST00000221307.7_Intron	NM_001199208.1|NM_001199209.1	NP_001186137.1|NP_001186138.1	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	74					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGCAGGGCATGAGGGTCCTGA	0.597													7	25					0	0	0	0	A	15754740	G	A	15754740	3	1	198	1	0	0	0	0	1	0	0	0	4222	1305	45	2		2	CYP4F3	19	15754740	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	3457250	15754740	43374243	285	35601											
ZNF85	7639	broad.mit.edu	37	chr19	21132951	21132951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacacatgtgaagaatgtgGcaaagcctttaaccagtcct	13	10	8	10	0	0	2	0	1	0	1	1	2	1	2	3	1	3	1	3	1	5	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:21132951G>A	ENST00000601023.1	+	2	2100	c.1454G>A	c.(1453-1455)gGc>gAc	p.G485D	ZNF85_ENST00000328178.8_Missense_Mutation_p.G544D|ZNF85_ENST00000345030.6_Missense_Mutation_p.G511D			Q03923	ZNF85_HUMAN	zinc finger protein 85	544						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAAGAATGTGGCAAAGCCTTT	0.348													5	41					0	0	0	0	A	21132951	G	A	21132951	3	1	198	1	0	0	0	0	1	0	0	0	18286	1203	42	4	1645	4	ZNF85	19	21132951	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	5378211	21132951	37996032	286	35602											
ZNF431	170959	broad.mit.edu	37	chr19	21365549	21365549	+	Frame_Shift_Del	DEL	C	C	-																															tttacagttaagaaaaggctCcgcaagtgtagatgagtata																										TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:21365549delC	ENST00000311048.7	+	5	587	c.443delC	c.(442-444)tcfs	p.S148fs	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGAAAAGGCTCCGCAAGTGTA	0.358													9	55	---	---	---	---					-	21365549	C	-	21365549	7	5	198	1	0	1	0	1	0	0	0	0	18000	855	30	0	461	0	ZNF431	19	21365549	Frame_Shift_Del	DEL	C	TCGA-CR-7371-01A-11D-2012-08	232598	21365549	37763434	287	35603											
ZNF98	148198	broad.mit.edu	37	chr19	22575547	22575547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgaatttgaaaatttatGaaagactttcacatatttgt	14	18	6	3	0	1	4	1	3	0	1	1	4	1	4	0	0	0	1	0	0	6	7			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:22575547G>A	ENST00000357774.5	-	4	611	c.490C>T	c.(490-492)Cat>Tat	p.H164Y		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GAAAATTTATGAAAGACTTTC	0.313													3	7					0	0	0	0	A	22575547	G	A	22575547	3	1	198	1	0	0	0	0	1	0	0	0	18296	1290	45	2	1232	2	ZNF98	19	22575547	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1209998	22575547	36553436	288	35604											
ZNF536	9745	broad.mit.edu	37	chr19	31039948	31039948	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgatggaaaggcccactCtgaagaggatgtccccatcc	10	7	11	13	0	1	3	0	2	1	1	3	5	3	5	5	3	0	0	5	3	2	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:31039948C>G	ENST00000355537.3	+	4	3569	c.3422C>G	c.(3421-3423)tCt>tGt	p.S1141C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGGCCCACTCTGAAGAGGAT	0.542													6	38					0	0	0	0	G	31039948	C	G	31039948	3	3	198	1	0	0	0	0	1	0	0	0	18069	913	32	2	3432	2	ZNF536	19	31039948	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	8464401	31039948	28089035	289	35605											
CHST8	64377	broad.mit.edu	37	chr19	34263714	34263714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcagcccctgcctcatcGactacgatttcgtaggcaag	8	10	9	14	3	2	0	1	0	1	0	4	2	2	0	3	1	4	3	3	1	3	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:34263714G>A	ENST00000262622.3	+	4	1779	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	CHST8_ENST00000438847.2_Missense_Mutation_p.D341N|CHST8_ENST00000434302.1_Missense_Mutation_p.D341N	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	341					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CTGCCTCATCGACTACGATTT	0.607													13	34					0	0	0	0	A	34263714	G	A	34263714	3	1	198	1	0	0	0	0	1	0	0	0	3439	1058	37	1	1031	1	CHST8	19	34263714	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	3223766	34263714	24865269	290	35606											
ZNF565	147929	broad.mit.edu	37	chr19	36673999	36673999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagtgagttgggagccaCgaatgaaagccttgccacag	12	6	13	10	1	0	2	0	2	0	0	0	4	0	3	3	1	3	2	3	1	2	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:36673999C>T	ENST00000355114.5	-	5	1715	c.989G>A	c.(988-990)cGt>cAt	p.R330H	ZNF565_ENST00000392173.2_Missense_Mutation_p.R290H|ZNF565_ENST00000304116.5_Missense_Mutation_p.R290H			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R290P(1)		large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TTGGGAGCCACGAATGAAAGC	0.502													14	81					0	0	0	0	T	36673999	C	T	36673999	3	4	198	1	0	0	0	0	1	0	0	0	18091	536	19	1	634	1	ZNF565	19	36673999	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	2410285	36673999	22454984	291	35607											
ZNF345	25850	broad.mit.edu	37	chr19	37367985	37367985	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcgacatcagcgaattcatActggtgagaaaccttatgaa	14	11	8	8	2	2	2	2	2	0	1	3	5	2	2	1	1	3	0	1	1	5	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:37367985A>G	ENST00000529555.1	+	2	1041	c.253A>G	c.(253-255)Act>Gct	p.T85A	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.T85A|ZNF345_ENST00000420450.1_Missense_Mutation_p.T85A			Q14585	ZN345_HUMAN	zinc finger protein 345	85					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCGAATTCATACTGGTGAGAA	0.403													6	38					0	0	0	0	G	37367985	A	G	37367985	3	3	198	1	0	0	0	0	1	0	0	0	17954	391	14	5	255	5	ZNF345	19	37367985	Missense_Mutation	SNP	A	TCGA-CR-7371-01A-11D-2012-08	693986	37367985	21760998	292	35608											
ZNF45	7596	broad.mit.edu	37	chr19	44417888	44417888	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagaaaattggaggccCgacagaagcccttcccacac	12	5	10	14	1	0	2	0	0	0	2	1	4	1	3	4	2	2	0	4	2	3	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:44417888C>A	ENST00000269973.5	-	10	2790	c.1700G>T	c.(1699-1701)cGg>cTg	p.R567L	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.R567L	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	567					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATTGGAGGCCCGACAGAAGCC	0.517													17	85					3.41278e-10	7.59939e-10	1	0	A	44417888	C	A	44417888	3	1	198	1	0	0	0	0	1	0	0	0	18016	652	23	3	352	3	ZNF45	19	44417888	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	7049903	44417888	14711095	293	35609											
ZNF841	284371	broad.mit.edu	37	chr19	52570837	52570837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttctgtattggtggtaattCcttgatcacacatttaggag	9	16	10	6	0	2	1	1	1	1	0	3	2	3	2	1	3	0	3	1	3	3	8			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:52570837C>T	ENST00000389534.4	-	7	757	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ZNF841_ENST00000594295.1_Missense_Mutation_p.E100K|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000426391.2_5'UTR	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GGTGGTAATTCCTTGATCACA	0.323													4	28					0	0	0	0	T	52570837	C	T	52570837	3	4	198	1	0	0	0	0	1	0	0	0	18282	864	30	2	2480	2	ZNF841	19	52570837	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	8152949	52570837	6558146	294	35610											
MYADM	91663	broad.mit.edu	37	chr19	54377171	54377171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatgtccagttcctgtccCacggccgttcgcgggaccac	5	9	10	17	4	0	0	0	0	0	0	4	1	3	1	6	2	0	2	6	2	1	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:54377171C>A	ENST00000391769.2	+	3	668	c.388C>A	c.(388-390)Cac>Aac	p.H130N	MYADM_ENST00000336967.3_Missense_Mutation_p.H130N|MYADM_ENST00000391771.1_Missense_Mutation_p.H130N|MYADM_ENST00000391768.2_Missense_Mutation_p.H130N|MYADM_ENST00000391770.4_Missense_Mutation_p.H130N	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	130	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GTTCCTGTCCCACGGCCGTTC	0.662													20	98					7.45023e-12	1.74522e-11	1	0	A	54377171	C	A	54377171	3	1	198	1	0	0	0	0	1	0	0	0	10076	594	21	4	390	4	MYADM	19	54377171	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	1806334	54377171	4751812	295	35611											
LILRB5	10990	broad.mit.edu	37	chr19	54756392	54756392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctctggccccgcagcccCtgcaggacggtagaaatggg	7	5	16	13	2	1	1	0	0	1	1	1	2	1	2	4	5	2	4	4	5	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:54756392C>T	ENST00000450632.1	-	10	1545	c.1468G>A	c.(1468-1470)Ggg>Agg	p.G490R	LILRB5_ENST00000316219.5_Missense_Mutation_p.G498R|LILRB5_ENST00000449561.2_Missense_Mutation_p.G499R|LILRB5_ENST00000345866.6_Missense_Mutation_p.G399R			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	498					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCGCAGCCCCTGCAGGACGG	0.607													8	76					0	0	0	0	T	54756392	C	T	54756392	3	4	198	1	0	0	0	0	1	0	0	0	8848	681	24	4	296	4	LILRB5	19	54756392	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	379221	54756392	4372591	296	35612											
LILRA1	11024	broad.mit.edu	37	chr19	55106219	55106219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctggtgtcaggggatcctgGagacccaggagtaccgtctg	7	9	15	10	1	3	1	1	0	2	1	4	4	4	3	3	5	1	1	3	5	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:55106219G>A	ENST00000453777.1	+	4	330	c.160G>A	c.(160-162)Gag>Aag	p.E54K	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.E54K|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	54	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGGGATCCTGGAGACCCAGGA	0.577													19	91					0	0	0	0	A	55106219	G	A	55106219	3	1	198	1	0	0	0	0	1	0	0	0	8838	1175	41	2	170	2	LILRA1	19	55106219	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	349827	55106219	4022764	297	35613											
LILRB1	10859	broad.mit.edu	37	chr19	55148286	55148286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatcccaggaagggccctCtccagctgtgcccagcatct	7	8	9	17	0	2	0	0	0	2	0	5	1	4	1	5	2	3	2	5	2	1	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:55148286C>T	ENST00000396331.1	+	16	2267	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.S688F|LILRB1_ENST00000434867.2_Missense_Mutation_p.S637F|LILRB1_ENST00000396321.2_Missense_Mutation_p.S637F|LILRB1_ENST00000396317.1_Missense_Mutation_p.S621F|LILRB1_ENST00000396332.4_Missense_Mutation_p.S638F|LILRB1_ENST00000396327.3_Missense_Mutation_p.S638F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S639F|LILRB1_ENST00000418536.2_Missense_Mutation_p.S621F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S639F|AC009892.10_ENST00000456337.1_Intron	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	637					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GAAGGGCCCTCTCCAGCTGTG	0.642										HNSCC(37;0.09)			17	47					0	0	0	0	T	55148286	C	T	55148286	3	4	198	1	0	0	0	0	1	0	0	0	8844	913	32	2	1970	2	LILRB1	19	55148286	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	42067	55148286	3980697	298	35614											
CPXM1	56265	broad.mit.edu	37	chr20	2775946	2775946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggtaggtgaggagggCgtctttgttgttctcccact	5	13	13	10	1	2	1	0	1	2	0	4	2	3	2	2	4	0	3	2	4	1	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr20:2775946C>A	ENST00000380605.2	-	12	1901	c.1837G>T	c.(1837-1839)Gcc>Tcc	p.A613S		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	613					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.A613P(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTGAGGAGGGCGTCTTTGTTG	0.572													6	43					8.12818e-05	0.00016559	1	0	A	2775946	C	A	2775946	3	1	198	1	0	0	0	0	1	0	0	0	3867	768	27	3	379	3	CPXM1	20	2775946	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08		2775946	60249574	299	35615											
ADAM33	80332	broad.mit.edu	37	chr20	3655732	3655732	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccgtagtgggtttctatgTatcctggggccagcagcctg	5	11	15	10	1	1	0	0	0	1	0	2	0	2	0	4	4	2	4	4	4	3	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr20:3655732T>A	ENST00000356518.2	-	4	516	c.275A>T	c.(274-276)tAc>tTc	p.Y92F	ADAM33_ENST00000379861.4_Missense_Mutation_p.Y92F|ADAM33_ENST00000350009.2_Missense_Mutation_p.Y92F	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	92					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGTTTCTATGTATCCTGGGGC	0.602													21	52					0	0	0	0	A	3655732	T	A	3655732	3	1	198	1	0	0	0	0	1	0	0	0	250	1638	57	5	2242	5	ADAM33	20	3655732	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	879786	3655732	59369788	300	35616											
ZNF831	128611	broad.mit.edu	37	chr20	57767508	57767508	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacctggacgcccccagaCaagtctcggcccctcttctt	6	9	7	19	2	3	1	0	0	3	1	5	2	4	2	6	2	0	0	6	2	1	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr20:57767508C>G	ENST00000371030.2	+	1	1434	c.1434C>G	c.(1432-1434)gaC>gaG	p.D478E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	478						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGCCCCCAGACAAGTCTCGGC	0.662													13	47					0	0	0	0	G	57767508	C	G	57767508	3	3	198	1	0	0	0	0	1	0	0	0	18278	477	17	4	1436	4	ZNF831	20	57767508	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	54111776	57767508	5258012	301	35617											
KRTAP20-1	337975	broad.mit.edu	37	chr21	31988891	31988891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatggaggctatggaaatGgctactactgcccatcttgc	9	11	11	10	0	1	0	0	0	1	0	1	2	1	2	1	4	4	3	1	4	5	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr21:31988891G>T	ENST00000334664.2	+	1	142	c.118G>T	c.(118-120)Ggc>Tgc	p.G40C		NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	40						intermediate filament				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						CTATGGAAATGGCTACTACTG	0.463													11	42					1.08611e-07	2.35682e-07	1	0	T	31988891	G	T	31988891	3	4	198	1	0	0	0	0	1	0	0	0	8588	1348	47	4	120	4	KRTAP20-1	21	31988891	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08		31988891	16141004	302	35618											
ADARB1	104	broad.mit.edu	37	chr21	46596174	46596174	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaactcctgacaaggcGgagcctcccttttacgtggg	8	11	11	11	2	0	2	0	2	0	0	2	3	2	3	3	3	3	0	3	3	3	3	rs146135960	byFrequency	TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr21:46596174G>A	ENST00000539173.1	+	4	993	c.558G>A	c.(556-558)gcG>gcA	p.A186A	ADARB1_ENST00000360697.3_Silent_p.A186A|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000389863.4_Silent_p.A186A|ADARB1_ENST00000348831.4_Silent_p.A186A	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	186					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CTGACAAGGCGGAGCCTCCCT	0.592													6	26					0	0	0	0	A	46596174	G	A	46596174	2	1	198	1	0	0	0	0	0	0	0	1	282	1103	39	1		1	ADARB1	21	46596174	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	14607283	46596174	1533721	303	35619											
XKR3	150165	broad.mit.edu	37	chr22	17288660	17288660	+	Frame_Shift_Del	DEL	A	A	-																															tcctaaaagaagaatgtgccAaaaaagtaatgcagccttat																										TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:17288660delA	ENST00000331428.5	-	2	406	c.304delT	c.(304-306)ggfs	p.W102fs		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	102						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGAATGTGCCAAAAAAGTAAT	0.333													18	55	---	---	---	---					-	17288660	A	-	17288660	7	5	198	1	0	1	0	1	0	0	0	0	17528	130	5	0	1087	0	XKR3	22	17288660	Frame_Shift_Del	DEL	A	TCGA-CR-7371-01A-11D-2012-08		17288660	34015906	304	35620											
PI4KA	5297	broad.mit.edu	37	chr22	21064999	21064999	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggctcaccgcacagccaggTagcctcggacacacatctcc	10	5	9	17	2	2	0	1	0	1	0	4	1	2	1	4	3	2	3	4	3	1	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:21064999T>C	ENST00000255882.6	-	52	6157	c.6071A>G	c.(6070-6072)tAc>tGc	p.Y2024C	PI4KA_ENST00000572273.1_Missense_Mutation_p.Y1966C|PI4KA_ENST00000414196.3_Missense_Mutation_p.Y776C	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1966					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)			CACAGCCAGGTAGCCTCGGAC	0.587													40	171					0	0	0	0	C	21064999	T	C	21064999	3	2	198	1	0	0	0	0	1	0	0	0	11945	1638	57	5	253	5	PI4KA	22	21064999	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	3776339	21064999	30239567	305	35621											
HIC2	23119	broad.mit.edu	37	chr22	21799710	21799710	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcatccaagctcggtatCaggggctcgtggatgggcgc	6	9	15	11	3	2	0	2	0	0	0	5	1	3	1	1	5	1	3	1	5	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:21799710C>T	ENST00000443632.2	+	2	898	c.526C>T	c.(526-528)Cag>Tag	p.Q176*	HIC2_ENST00000407598.2_Nonsense_Mutation_p.Q176*|HIC2_ENST00000407464.2_Nonsense_Mutation_p.Q176*			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	176				Q -> R (in Ref. 3; BAA82972).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				AGCTCGGTATCAGGGGCTCGT	0.677													14	12					0	0	0	0	T	21799710	C	T	21799710	4	4	198	1	0	0	0	0	0	1	0	0	7152	827	29	2	532	2	HIC2	22	21799710	Nonsense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	734711	21799710	29504856	306	35622											
ZNRF3	84133	broad.mit.edu	37	chr22	29442723	29442723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattccatgaacaggctggCtgtgcaggctctagagaaga	12	8	13	8	0	1	3	0	1	1	2	2	5	2	3	1	3	2	4	1	3	4	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:29442723C>A	ENST00000544604.2	+	6	939	c.764C>A	c.(763-765)gCt>gAt	p.A255D	ZNRF3_ENST00000402174.1_Missense_Mutation_p.A155D|ZNRF3_ENST00000406323.3_Missense_Mutation_p.A155D|ZNRF3_ENST00000332811.4_Missense_Mutation_p.A155D	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	255						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						AACAGGCTGGCTGTGCAGGCT	0.562													50	131					4.86159e-25	1.20908e-24	1	0	A	29442723	C	A	29442723	3	1	198	1	0	0	0	0	1	0	0	0	18306	797	28	4	482	4	ZNRF3	22	29442723	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	7643013	29442723	21861843	307	35623											
MTMR3	8897	broad.mit.edu	37	chr22	30412531	30412531	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccataggtgaaactggtgcaGcatacctattcctgcctgtt	9	12	9	11	0	0	1	0	1	0	0	1	1	1	1	4	2	5	3	4	2	4	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:30412531G>A	ENST00000333027.3	+	15	1846	c.1518G>A	c.(1516-1518)caG>caA	p.Q506Q	MTMR3_ENST00000406629.1_Silent_p.Q506Q|MTMR3_ENST00000401950.2_Silent_p.Q506Q|MTMR3_ENST00000351488.3_Silent_p.Q506Q|MTMR3_ENST00000323630.5_Silent_p.Q370Q|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	506	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AACTGGTGCAGCATACCTATT	0.478													39	120					0	0	0	0	A	30412531	G	A	30412531	2	1	198	1	0	0	0	0	0	0	0	1	10015	962	34	4		4	MTMR3	22	30412531	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	969808	30412531	20892035	308	35624											
PES1	23481	broad.mit.edu	37	chr22	30977575	30977575	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttgacaaagcccagcagCgtggtgtagaactcggtgaa	13	7	13	8	2	0	3	0	2	0	1	1	3	0	3	1	2	4	3	1	2	5	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:30977575C>T	ENST00000402281.1	-	9	1261	c.270G>A	c.(268-270)acG>acA	p.T90T	PES1_ENST00000354694.6_Silent_p.T229T|PES1_ENST00000405677.1_Silent_p.T90T|PES1_ENST00000402284.3_Silent_p.T212T|PES1_ENST00000335214.6_Silent_p.T229T			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	229	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						AGCCCAGCAGCGTGGTGTAGA	0.597													5	34					0	0	0	0	T	30977575	C	T	30977575	2	4	198	1	0	0	0	0	0	0	0	1	11804	755	27	1		1	PES1	22	30977575	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	565044	30977575	20326991	309	35625											
DEPDC5	9681	broad.mit.edu	37	chr22	32217595	32217595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcctctgcagagctgctgGagttagcatatcatgaagct	10	11	10	10	0	2	2	1	1	1	1	3	3	3	3	1	1	5	6	1	1	3	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:32217595G>A	ENST00000400246.1	+	23	2120	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E660K|DEPDC5_ENST00000400248.1_Missense_Mutation_p.E660K|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E660K|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382112.3_Missense_Mutation_p.E660K|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E660K|DEPDC5_ENST00000535622.1_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	660					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAGCTGCTGGAGTTAGCATA	0.557													24	217					0	0	0	0	A	32217595	G	A	32217595	3	1	198	1	0	0	0	0	1	0	0	0	4479	1175	41	2	2082	2	DEPDC5	22	32217595	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1240020	32217595	19086971	310	35626											
MPPED1	758	broad.mit.edu	37	chr22	43821067	43821067	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccctgcggcctgggcatgGcattctcccagtcccacgtg	4	9	11	17	2	1	0	0	0	1	0	4	0	3	0	5	3	1	2	5	3	0	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:43821067G>C	ENST00000417669.1	+	2	520	c.76G>C	c.(76-78)Gca>Cca	p.A26P	MPPED1_ENST00000542779.1_Missense_Mutation_p.A26P|MPPED1_ENST00000443721.1_Missense_Mutation_p.A26P|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000538182.1_Missense_Mutation_p.A59P|MPPED1_ENST00000414469.2_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	26							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CCTGGGCATGGCATTCTCCCA	0.697													12	22					0	0	0	0	C	43821067	G	C	43821067	3	2	198	1	0	0	0	0	1	0	0	0	9811	1203	42	4	78	4	MPPED1	22	43821067	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	11603472	43821067	7483499	311	35627											
PARVG	64098	broad.mit.edu	37	chr22	44585010	44585010	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagagaggctggcggcgctCaagctggaagcagaggacat	11	4	16	10	2	1	2	1	0	0	2	1	5	1	4	1	5	2	4	1	5	2	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:44585010C>T	ENST00000422871.1	+	6	688	c.264C>T	c.(262-264)ctC>ctT	p.L88L	PARVG_ENST00000444313.2_Silent_p.L88L|PARVG_ENST00000415224.1_Silent_p.L88L	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	88	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TGGCGGCGCTCAAGCTGGAAG	0.652													5	61					0	0	0	0	T	44585010	C	T	44585010	2	4	198	1	0	0	0	0	0	0	0	1	11541	813	29	2		2	PARVG	22	44585010	Silent	SNP	C	TCGA-CR-7371-01A-11D-2012-08	763943	44585010	6719556	312	35628											
GRAMD4	23151	broad.mit.edu	37	chr22	47033858	47033858	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggaaaaacatttcttacGtgagtaccagaaagcgcttg	14	11	9	7	2	1	2	0	1	1	1	1	3	1	3	1	1	4	2	1	1	5	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:47033858G>T	ENST00000406902.1	+	3	496		c.e3+1		GRAMD4_ENST00000361034.3_Splice_Site			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4						apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CATTTCTTACGTGAGTACCAG	0.522													31	94					9.04072e-19	2.20547e-18	1	0	T	47033858	G	T	47033858	5	4	198	1	0	0	0	0	0	0	1	0	6802	1159	40	3	290	3	GRAMD4	22	47033858	Splice_Site	SNP	G	TCGA-CR-7371-01A-11D-2012-08	2448848	47033858	4270708	313	35629											
CERK	64781	broad.mit.edu	37	chr22	47095335	47095335	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgctgttgtggtggactGaggacacatccatggccagc	7	10	15	9	0	0	1	0	1	0	0	1	3	1	3	2	4	2	2	2	4	0	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:47095335G>T	ENST00000216264.8	-	8	930	c.818C>A	c.(817-819)tCa>tAa	p.S273*	CERK_ENST00000541677.1_Nonsense_Mutation_p.S75*	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	273	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTGGTGGACTGAGGACACATC	0.612													16	113					1.15088e-07	2.49032e-07	1	0	T	47095335	G	T	47095335	4	4	198	1	0	0	0	0	0	1	0	0	3296	1294	45	2	819	2	CERK	22	47095335	Nonsense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	61477	47095335	4209231	314	35630											
WWC3	55841	broad.mit.edu	37	chrX	10106854	10106854	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctgaatgaggagctcTgcgccctccgtgagctgcgg	6	7	16	12	3	1	3	0	3	1	0	2	4	2	4	2	3	5	4	2	3	1	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:10106854T>A	ENST00000380861.4	+	21	3353	c.2962T>A	c.(2962-2964)Tgc>Agc	p.C988S	WWC3_ENST00000454666.1_Missense_Mutation_p.C988S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	988										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGAGGAGCTCTGCGCCCTCCG	0.677													7	28					0	0	0	0	A	10106854	T	A	10106854	3	1	198	1	0	0	0	0	1	0	0	0	17509	1580	55	5	3040	5	WWC3	23	10106854	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08		10106854	145163706	315	35631											
CLCN4	1183	broad.mit.edu	37	chrX	10176392	10176392	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccatcactgccatcattgCctaccccaatccctacacac	10	9	3	19	0	2	0	2	0	0	0	3	0	3	0	6	0	5	0	6	0	3	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:10176392C>G	ENST00000380833.4	+	9	1542	c.1151C>G	c.(1150-1152)gCc>gGc	p.A384G	CLCN4_ENST00000380829.1_Missense_Mutation_p.A353G|CLCN4_ENST00000421085.2_Missense_Mutation_p.A290G	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	384						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCATCATTGCCTACCCCAAT	0.577													47	261					0	0	0	0	G	10176392	C	G	10176392	3	3	198	1	0	0	0	0	1	0	0	0	3495	739	26	4	1177	4	CLCN4	23	10176392	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	69538	10176392	145094168	316	35632											
FRMPD4	9758	broad.mit.edu	37	chrX	12736348	12736348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaggaagaaggagctcctGatggagaaaccagtgatggc	14	5	16	6	0	0	4	0	2	0	2	1	8	1	7	2	5	2	1	2	5	4	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:12736348G>A	ENST00000380682.1	+	16	3909	c.3403G>A	c.(3403-3405)Gat>Aat	p.D1135N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1135					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGAGCTCCTGATGGAGAAAC	0.512													34	273					0	0	0	0	A	12736348	G	A	12736348	3	1	198	1	0	0	0	0	1	0	0	0	6107	1290	45	2	3465	2	FRMPD4	23	12736348	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	2559956	12736348	142534212	317	35633											
ARX	170302	broad.mit.edu	37	chrX	25033720	25033720	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcaagctctgcgcggcTcccagcaaccgcattttgca	8	7	11	15	3	1	0	0	0	1	0	2	0	2	0	2	2	5	7	2	2	2	2			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:25033720T>A	ENST00000379044.4	-	1	345	c.135A>T	c.(133-135)ggA>ggT	p.G45G		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	45						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						TCTGCGCGGCTCCCAGCAACC	0.607													5	24					0	0	0	0	A	25033720	T	A	25033720	2	1	198	1	0	0	0	0	0	0	0	1	1008	1538	54	5		5	ARX	23	25033720	Silent	SNP	T	TCGA-CR-7371-01A-11D-2012-08	12297372	25033720	130236840	318	35634											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29686564	29686564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcccctctgactgataagCcacccaagcttttgtatcct	9	11	6	15	0	1	2	0	2	1	0	2	2	2	2	5	0	3	2	5	0	3	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:29686564C>T	ENST00000378993.1	+	6	1394	c.721C>T	c.(721-723)Cca>Tca	p.P241S	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.P241S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	241					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GACTGATAAGCCACCCAAGCT	0.368													4	32					0	0	0	0	T	29686564	C	T	29686564	3	4	198	1	0	0	0	0	1	0	0	0	7714	739	26	4	739	4	IL1RAPL1	23	29686564	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	4652844	29686564	125583996	319	35635											
DMD	1756	broad.mit.edu	37	chrX	31496268	31496268	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagtcaatgaggagatcGcccacgggctgccaggatcc	11	5	14	11	2	1	3	1	1	0	2	3	6	2	4	3	3	1	1	3	3	1	0			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:31496268G>C	ENST00000357033.4	-	59	9098	c.8892C>G	c.(8890-8892)ggC>ggG	p.G2964G	DMD_ENST00000474231.1_Silent_p.G504G|DMD_ENST00000359836.1_Silent_p.G504G|DMD_ENST00000541735.1_Silent_p.G504G|DMD_ENST00000343523.2_Silent_p.G504G|DMD_ENST00000378707.3_Silent_p.G504G|DMD_ENST00000378677.2_Silent_p.G2960G	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2964					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGAGGAGATCGCCCACGGGCT	0.532													4	28					0	0	0	0	C	31496268	G	C	31496268	2	2	198	1	0	0	0	0	0	0	0	1	4617	1074	38	3		3	DMD	23	31496268	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	1809704	31496268	123774292	320	35636											
DMD	1756	broad.mit.edu	37	chrX	31496480	31496480	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacattctgggctctctcctCaggaggcagctctaaattgg	8	11	11	11	0	4	0	1	0	3	0	6	2	5	1	1	4	1	3	1	4	2	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:31496480C>G	ENST00000357033.4	-	59	8886	c.8680G>C	c.(8680-8682)Gag>Cag	p.E2894Q	DMD_ENST00000474231.1_Missense_Mutation_p.E434Q|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000359836.1_Missense_Mutation_p.E434Q|DMD_ENST00000541735.1_Missense_Mutation_p.E434Q|DMD_ENST00000343523.2_Missense_Mutation_p.E434Q|DMD_ENST00000378707.3_Missense_Mutation_p.E434Q|DMD_ENST00000378677.2_Missense_Mutation_p.E2890Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2894					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTCTCTCCTCAGGAGGCAGC	0.443													17	83					0	0	0	0	G	31496480	C	G	31496480	3	3	198	1	0	0	0	0	1	0	0	0	4617	835	29	2	2575	2	DMD	23	31496480	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	212	31496480	123774080	321	35637											
SLC7A3	84889	broad.mit.edu	37	chrX	70146774	70146774	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggccagagagtggagtgggGatggagttgagtgggaaaaa	12	7	20	2	0	0	2	0	1	0	1	0	7	0	6	1	6	0	1	1	6	2	1			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:70146774G>A	ENST00000374299.3	-	9	1548	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	SLC7A3_ENST00000298085.4_Silent_p.I468I			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	468					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGGAGTGGGGATGGAGTTGA	0.483													6	51					0	0	0	0	A	70146774	G	A	70146774	2	1	198	1	0	0	0	0	0	0	0	1	14786	1164	41	2		2	SLC7A3	23	70146774	Silent	SNP	G	TCGA-CR-7371-01A-11D-2012-08	38650294	70146774	85123786	322	35638											
KIAA2022	340533	broad.mit.edu	37	chrX	73964112	73964112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagatggcattcacagaagCactattagcagcatgttcgg	12	9	12	8	1	1	2	1	0	0	2	2	3	1	2	0	3	3	5	0	3	3	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:73964112C>T	ENST00000373468.1	-	3	931	c.280G>A	c.(280-282)Gct>Act	p.A94T	KIAA2022_ENST00000055682.5_Missense_Mutation_p.A94T			Q5QGS0	K2022_HUMAN	KIAA2022	94					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTCACAGAAGCACTATTAGCA	0.512													21	101					0	0	0	0	T	73964112	C	T	73964112	3	4	198	1	0	0	0	0	1	0	0	0	8320	710	25	4	4278	4	KIAA2022	23	73964112	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	3817338	73964112	81306448	323	35639											
PCDH11X	27328	broad.mit.edu	37	chrX	91134302	91134302	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagtttctaacacaactttCtaactatttttttattatta	13	20	1	7	0	2	0	0	0	2	0	2	0	2	0	0	0	3	1	0	0	8	11			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:91134302C>G	ENST00000361724.1	+	2	3908	c.3063C>G	c.(3061-3063)ttC>ttG	p.F1021L	PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000395337.2_Intron|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000373094.1_Intron|PCDH11X_ENST00000373088.1_Intron	NM_014522.1	NP_055337.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACACAACTTTCTAACTATTTT	0.383													9	44					0	0	0	0	G	91134302	C	G	91134302	3	3	198	1	0	0	0	0	1	0	0	0	11579	912	32	2	3069	2	PCDH11X	23	91134302	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	17170190	91134302	64136258	324	35640											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104984567	104984567	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagagcatcttggagaaaaaGaagttgaattggcactcatc	16	9	10	6	0	2	4	1	1	1	3	3	5	2	4	0	2	1	3	0	2	5	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:104984567G>C	ENST00000372582.1	+	8	1687	c.931G>C	c.(931-933)Gaa>Caa	p.E311Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E311Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	311	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGGAGAAAAAGAAGTTGAATT	0.443													12	61					0	0	0	0	C	104984567	G	C	104984567	3	2	198	1	0	0	0	0	1	0	0	0	7715	943	33	2	957	2	IL1RAPL2	23	104984567	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	13850265	104984567	50285993	325	35641											
TRPC5	7224	broad.mit.edu	37	chrX	111097124	111097124	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtcaaataggatgctgTgtggcagataaacttgataa	15	10	12	4	0	1	2	1	1	0	1	1	4	1	3	0	3	2	2	0	3	6	4			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:111097124T>A	ENST00000262839.2	-	4	2029	c.1111A>T	c.(1111-1113)Aca>Tca	p.T371S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	371					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAGGATGCTGTGTGGCAGATA	0.498													25	66					0	0	0	0	A	111097124	T	A	111097124	3	1	198	1	0	0	0	0	1	0	0	0	16677	1696	59	5	1842	5	TRPC5	23	111097124	Missense_Mutation	SNP	T	TCGA-CR-7371-01A-11D-2012-08	6112557	111097124	44173436	326	35642											
AMOT	154796	broad.mit.edu	37	chrX	112033890	112033890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctcctccaaatatttctGctcccactttgtcatatcag	9	16	3	13	0	4	0	2	0	2	0	7	0	6	0	3	0	1	1	3	0	3	5			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:112033890G>C	ENST00000371959.3	-	7	2046	c.2047C>G	c.(2047-2049)Cag>Gag	p.Q683E	AMOT_ENST00000304758.1_Missense_Mutation_p.Q274E|AMOT_ENST00000524145.1_Missense_Mutation_p.Q683E|AMOT_ENST00000371958.1_Missense_Mutation_p.Q451E|AMOT_ENST00000371962.1_Missense_Mutation_p.Q451E	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	683					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AAATATTTCTGCTCCCACTTT	0.493													39	168					0	0	0	0	C	112033890	G	C	112033890	3	2	198	1	0	0	0	0	1	0	0	0	582	1328	46	4	1227	4	AMOT	23	112033890	Missense_Mutation	SNP	G	TCGA-CR-7371-01A-11D-2012-08	936766	112033890	43236670	327	35643											
GABRQ	55879	broad.mit.edu	37	chrX	151820062	151820062	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccccaacatttcctgtatCaaggccattgatatctatat	11	14	4	12	0	2	1	1	1	1	0	4	1	4	1	4	1	1	1	4	1	6	6			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:151820062C>G	ENST00000370306.2	+	8	995	c.975C>G	c.(973-975)atC>atG	p.I325M		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	325						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGTATCAAGGCCATTG	0.448													33	84					0	0	0	0	G	151820062	C	G	151820062	3	3	198	1	0	0	0	0	1	0	0	0	6223	816	29	2	1005	2	GABRQ	23	151820062	Missense_Mutation	SNP	C	TCGA-CR-7371-01A-11D-2012-08	39786172	151820062	3450498	328	35644											
MAGEA12	4111	broad.mit.edu	37	chrX	151900413	151900413	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcatttctgcctttgtgaAtggctccctggctcgatact	6	14	9	12	1	1	1	0	1	1	0	3	2	2	1	2	2	3	3	2	2	2	3			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:151900413A>T	ENST00000393900.3	-	3	741	c.388T>A	c.(388-390)Ttc>Atc	p.F130I	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.F130I|MAGEA12_ENST00000393869.3_Missense_Mutation_p.F130I	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	130	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTTTGTGAATGGCTCCCTG	0.498													47	117					0	0	0	0	T	151900413	A	T	151900413	3	4	198	1	0	0	0	0	1	0	0	0	9231	101	4	5	560	5	MAGEA12	23	151900413	Missense_Mutation	SNP	A	TCGA-CR-7371-01A-11D-2012-08	80351	151900413	3370147	329	35645											
VSIG8	391123	broad.mit.edu	37	chr1	159827930	159827930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtggtcttcttcaccCggcactcataagtggctgta	7	12	10	12	1	4	0	2	0	2	0	4	0	4	0	2	4	0	3	2	4	2	4			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr1:159827930C>T	ENST00000368100.1	-	3	515	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	RP11-190A12.7_ENST00000544342.1_Intron	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	127	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					CTTCTTCACCCGGCACTCATA	0.562													7	34					0	0	0	0	T	159827930	C	T	159827930	3	4	199	1	0	0	0	0	1	0	0	0	17322	652	23	1	884	1	VSIG8	1	159827930	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08		159827930	89422691	1	35646											
PTPRC	5788	broad.mit.edu	37	chr1	198723447	198723447	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctttgttaaatctcttaGaaagtgcggaaacagaagag	14	11	11	5	1	1	3	0	0	1	3	2	4	1	4	0	1	3	2	0	1	6	3			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr1:198723447G>T	ENST00000367376.2	+	32	3724	c.3553G>T	c.(3553-3555)Gaa>Taa	p.E1185*	PTPRC_ENST00000442510.2_Nonsense_Mutation_p.E1187*|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.E1137*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.E1026*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.E1024*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1185	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAATCTCTTAGAAAGTGCGGA	0.383													13	31					0.00136819	0.0015755	1	0	T	198723447	G	T	198723447	4	4	199	1	0	0	0	0	0	1	0	0	12879	943	33	2	3686	2	PTPRC	1	198723447	Nonsense_Mutation	SNP	G	TCGA-CR-7372-01A-11D-2012-08	38895517	198723447	50527174	2	35647											
DISP1	84976	broad.mit.edu	37	chr1	223177009	223177009	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagttccaggtgttccggtCgtcccatccttttgagcgtt	4	14	11	12	4	0	1	0	1	0	0	5	2	4	1	4	2	1	3	4	2	0	5			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr1:223177009C>A	ENST00000284476.6	+	8	2434	c.2270C>A	c.(2269-2271)tCg>tAg	p.S757*		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	757					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.S757W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GTGTTCCGGTCGTCCCATCCT	0.463													12	67					1.08611e-07	1.42318e-07	1	0	A	223177009	C	A	223177009	4	1	199	1	0	0	0	0	0	1	0	0	4576	893	31	3	2296	3	DISP1	1	223177009	Nonsense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08	24453562	223177009	26073612	3	35648											
BUB1	699	broad.mit.edu	37	chr2	111399701	111399701	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcaggtcatttacctttaAaacaaatttctgtttatttt	12	19	3	7	0	3	0	2	0	1	0	3	0	3	0	1	1	2	1	1	1	5	9			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr2:111399701A>C	ENST00000535254.1	-	19	2465	c.2398T>G	c.(2398-2400)Tta>Gta	p.L800V	BUB1_ENST00000302759.6_Missense_Mutation_p.L820V|BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000409311.1_Missense_Mutation_p.L820V	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	820	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTTACCTTTAAAACAAATTTC	0.353													3	17					0	0	0	0	C	111399701	A	C	111399701	3	2	199	1	0	0	0	0	1	0	0	0	1579	11	1	5	823	5	BUB1	2	111399701	Missense_Mutation	SNP	A	TCGA-CR-7372-01A-11D-2012-08		111399701	131799672	4	35649											
LRP1B	53353	broad.mit.edu	37	chr2	141081499	141081499	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgatgagatatcaaaacaccTtttgttttatcaatatttaa	15	16	4	6	1	2	1	2	1	0	1	2	3	2	1	1	0	1	1	1	0	7	8			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr2:141081499T>G	ENST00000389484.3	-	81	13448	c.12477A>C	c.(12475-12477)aaA>aaC	p.K4159N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4159					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAAAACACCTTTTGTTTTAT	0.269										TSP Lung(27;0.18)			15	27					0	0	0	0	G	141081499	T	G	141081499	3	3	199	1	0	0	0	0	1	0	0	0	9019	1606	56	5	1366	5	LRP1B	2	141081499	Missense_Mutation	SNP	T	TCGA-CR-7372-01A-11D-2012-08	29681798	141081499	102117874	5	35650											
KIF1A	547	broad.mit.edu	37	chr2	241737138	241737138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaattgaaggggcggaccCgcaccgccaccttcaccgaa	10	4	13	14	4	1	1	1	1	0	0	1	4	1	3	5	4	0	1	5	4	3	2			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr2:241737138C>T	ENST00000498729.2	-	2	278	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	KIF1A_ENST00000320389.7_Missense_Mutation_p.R11Q	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	11	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.R11Q(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGGCGGACCCGCACCGCCAC	0.602													6	15					0	0	0	0	T	241737138	C	T	241737138	3	4	199	1	0	0	0	0	1	0	0	0	8334	652	23	1	5224	1	KIF1A	2	241737138	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08	100655639	241737138	1462235	6	35651											
ALS2CL	259173	broad.mit.edu	37	chr3	46728524	46728524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcacgtactgttgcacGtgatgggcgagtggctggtg	7	9	18	7	3	0	1	0	1	0	0	0	3	0	2	0	4	3	5	0	4	1	2			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr3:46728524G>A	ENST00000318962.4	-	5	566	c.483C>T	c.(481-483)caC>caT	p.H161H	ALS2CL_ENST00000415953.1_Silent_p.H161H	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	161					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ACTGTTGCACGTGATGGGCGA	0.677													11	15					0	0	0	0	A	46728524	G	A	46728524	2	1	199	1	0	0	0	0	0	0	0	1	551	1136	40	1		1	ALS2CL	3	46728524	Silent	SNP	G	TCGA-CR-7372-01A-11D-2012-08		46728524	151293906	7	35652											
CADM2	253559	broad.mit.edu	37	chr3	85775646	85775646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaatatgtttgttctcttCttgtgcaacctttccttggt	5	21	6	9	0	3	0	0	0	3	0	5	0	4	0	2	1	2	3	2	1	3	8			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr3:85775646C>A	ENST00000405615.2	+	1	15	c.15C>A	c.(13-15)ttC>ttA	p.F5L	CADM2_ENST00000407528.2_Intron|CADM2_ENST00000383699.3_Intron	NM_153184.3	NP_694854.2	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	0					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTGTTCTCTTCTTGTGCAACC	0.353													12	56					2.27111e-07	2.9255e-07	1	0	A	85775646	C	A	85775646	3	1	199	1	0	0	0	0	1	0	0	0	2592	912	32	2	82	2	CADM2	3	85775646	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08	39047122	85775646	112246784	8	35653											
ALCAM	214	broad.mit.edu	37	chr3	105260531	105260531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacactgacggatgtgaggCgcaatgcaacaggagactac	14	5	12	10	2	0	3	0	2	0	1	0	5	0	4	0	3	3	2	0	3	3	1			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr3:105260531C>T	ENST00000306107.5	+	8	1413	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.R305C|ALCAM_ENST00000486979.2_Missense_Mutation_p.R254C	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	305	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGATGTGAGGCGCAATGCAAC	0.423													6	43					0	0	0	0	T	105260531	C	T	105260531	3	4	199	1	0	0	0	0	1	0	0	0	487	768	27	1	943	1	ALCAM	3	105260531	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08	19484885	105260531	92761899	9	35654											
GTF2E1	2960	broad.mit.edu	37	chr3	120469828	120469828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagacttagaagctaatcaGctctttgatcctatgacagg	13	11	8	9	0	2	4	1	2	1	2	3	4	3	4	1	1	2	2	1	1	4	4			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr3:120469828G>T	ENST00000283875.5	+	2	522	c.429G>T	c.(427-429)caG>caT	p.Q143H		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	143					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAGCTAATCAGCTCTTTGATC	0.353													10	45					4.68919e-08	6.25225e-08	1	0	T	120469828	G	T	120469828	3	4	199	1	0	0	0	0	1	0	0	0	6906	962	34	4	431	4	GTF2E1	3	120469828	Missense_Mutation	SNP	G	TCGA-CR-7372-01A-11D-2012-08	15209297	120469828	77552602	10	35655											
PLXND1	23129	broad.mit.edu	37	chr3	129284253	129284253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacagactctgtgcgcCgcagcatgagcttggggttc	7	8	12	14	2	1	2	0	1	1	1	2	2	1	2	3	2	3	4	3	2	0	2			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr3:129284253C>T	ENST00000393239.1	-	25	4629	c.4451G>A	c.(4450-4452)cGg>cAg	p.R1484Q	PLXND1_ENST00000324093.4_Missense_Mutation_p.R1484Q			Q9Y4D7	PLXD1_HUMAN	plexin D1	1484					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTCTGTGCGCCGCAGCATGAG	0.602													14	103					0	0	0	0	T	129284253	C	T	129284253	3	4	199	1	0	0	0	0	1	0	0	0	12199	652	23	1	1374	1	PLXND1	3	129284253	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08	8814425	129284253	68738177	11	35656											
CAMK2D	817	broad.mit.edu	37	chr4	114469879	114469879	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttctagaatctgctgtatAcaatgactgcaaagatacaa	15	12	6	8	0	2	3	0	1	2	2	2	3	2	3	0	0	4	3	0	0	8	5			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr4:114469879A>G	ENST00000454265.2	-	6	1206	c.348T>C	c.(346-348)tgT>tgC	p.C116C	CAMK2D_ENST00000342666.5_Silent_p.C116C|CAMK2D_ENST00000394524.3_Silent_p.C116C|CAMK2D_ENST00000514328.1_Silent_p.C116C|CAMK2D_ENST00000379773.2_Silent_p.C116C|CAMK2D_ENST00000505990.1_Intron|CAMK2D_ENST00000394526.2_Silent_p.C116C|CAMK2D_ENST00000515496.1_Silent_p.C116C|CAMK2D_ENST00000429180.1_Silent_p.C116C|CAMK2D_ENST00000508738.1_Silent_p.C116C|CAMK2D_ENST00000394522.3_Silent_p.C116C|CAMK2D_ENST00000511664.1_Intron|CAMK2D_ENST00000418639.2_Silent_p.C116C|CAMK2D_ENST00000296402.5_Silent_p.C116C			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	116	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TCTGCTGTATACAATGACTGC	0.358													6	14					0	0	0	0	G	114469879	A	G	114469879	2	3	199	1	0	0	0	0	0	0	0	1	2626	389	14	5		5	CAMK2D	4	114469879	Silent	SNP	A	TCGA-CR-7372-01A-11D-2012-08		114469879	76684397	12	35657											
CDC23	8697	broad.mit.edu	37	chr5	137548688	137548688	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgtccttacctctgtaaTaggcggaggcggttgcagct	8	11	12	10	2	1	0	0	0	1	0	2	1	2	1	2	4	3	4	2	4	3	4			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr5:137548688T>A	ENST00000394886.2	-	2	256	c.226A>T	c.(226-228)Att>Ttt	p.I76F	CDC23_ENST00000505120.1_Missense_Mutation_p.I76F|CDC23_ENST00000394884.3_Missense_Mutation_p.I76F	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCTCTGTAATAGGCGGAGGC	0.572													13	81					0	0	0	0	A	137548688	T	A	137548688	3	1	199	1	0	0	0	0	1	0	0	0	3090	1406	49	5	1627	5	CDC23	5	137548688	Missense_Mutation	SNP	T	TCGA-CR-7372-01A-11D-2012-08		137548688	43366572	13	35658											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156805	26156807	+	In_Frame_Del	DEL	AAG	AAG	-																															gcgtatctttggccgctctcAagaaagcgctggcagccgct																										TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr6:26156805_26156807delAAG	ENST00000304218.3	+	1	247_249	c.187_189delAAG	c.(187-189)del	p.K64del		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	64	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.K63K(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GGCCGCTCTCAAGAAAGCGCTGG	0.616													15	49	---	---	---	---					-	26156807	AAG	-	26156805	7	5	199	1	0	1	0	1	0	0	0	0	7176	131	5	0	189	0	HIST1H1E	6	26156805	In_Frame_Del	DEL	AAG	TCGA-CR-7372-01A-11D-2012-08		26156805	144958262	14	35659											
MTO1	25821	broad.mit.edu	37	chr6	74176036	74176037	+	Frame_Shift_Ins	INS	-	-	GT																															tcgcatctgtgaccagtctgINSgtgtacattataaagtatta																										TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr6:74176036_74176037insGT	ENST00000498286.1	+	2	599_600	c.322_323insGT	c.(322-324)tgtfs	p.C108fs	MTO1_ENST00000370300.4_Frame_Shift_Ins_p.C108fs|MTO1_ENST00000415954.2_Frame_Shift_Ins_p.C108fs|MTO1_ENST00000518210.1_3'UTR|MTO1_ENST00000370305.1_Frame_Shift_Ins_p.C34fs			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	108					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TGACCAGTCTGGTGTACATTAT	0.455													25	86	---	---	---	---					GT	74176037	-	GT	74176036	7	5	199	1	0	1	1	0	0	0	0	0	10023	1348	47	0	328	0	MTO1	6	74176036	Frame_Shift_Ins	INS	-	TCGA-CR-7372-01A-11D-2012-08	48019231	74176036	96939031	15	35660											
HS3ST5	222537	broad.mit.edu	37	chr6	114379098	114379098	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatcaaaaaagtggatttCttgagaggctttgactactg	13	14	9	5	0	2	2	1	2	1	1	2	4	2	3	0	2	1	1	0	2	5	5			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr6:114379098C>A	ENST00000312719.5	-	5	1552	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Nonsense_Mutation_p.E122*|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	122					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AAGTGGATTTCTTGAGAGGCT	0.443													16	72					1.3612e-06	1.66857e-06	1	0	A	114379098	C	A	114379098	4	1	199	1	0	0	0	0	0	1	0	0	7418	922	32	2	680	2	HS3ST5	6	114379098	Nonsense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08	40203062	114379098	56735969	16	35661											
PRKAR1B	5575	broad.mit.edu	37	chr7	635848	635848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccgtcttggctttcaCggtcgcagccctgggggtgc	3	10	16	12	3	2	0	1	0	1	0	4	1	3	0	2	5	2	2	2	5	0	2			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:635848C>T	ENST00000406797.1	-	7	817	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	PRKAR1B_ENST00000403562.1_Missense_Mutation_p.V215M|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.V215M|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.V215M|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.V215M	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	215					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		TTGGCTTTCACGGTCGCAGCC	0.622													19	63					0	0	0	0	T	635848	C	T	635848	3	4	199	1	0	0	0	0	1	0	0	0	12584	536	19	1	522	1	PRKAR1B	7	635848	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08		635848	158502815	17	35662											
TNRC18	84629	broad.mit.edu	37	chr7	5410483	5410483	+	Missense_Mutation	SNP	G	G	T																															cagtgtctcgggtgtcagctGcacccccaggtccagggcgg																										TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:5410483G>T	ENST00000399537.4	-	11	4090	c.3742C>A	c.(3742-3744)Cag>Aag	p.Q1248K	TNRC18_ENST00000430969.1_Missense_Mutation_p.Q1248K			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1248							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGTGTCAGCTGCACCCCCAGG	0.692													11	31					9.05144e-12	1.29794e-11	1	0	T	5410483	G	T	5410483	3	4	199	1	0	0	0	0	1	0	0	0	16433	1328	46	4	5244	4	TNRC18	7	5410483	Missense_Mutation	SNP	G	TCGA-CR-7372-01A-11D-2012-08	4774635	5410483	153728180	18	35663	277	2									
TNRC18	84629	broad.mit.edu	37	chr7	5410484	5410484	+	Silent	SNP	C	C	T																															agtgtctcgggtgtcagctgCacccccaggtccagggcggc																										TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:5410484C>T	ENST00000399537.4	-	11	4089	c.3741G>A	c.(3739-3741)gtG>gtA	p.V1247V	TNRC18_ENST00000430969.1_Silent_p.V1247V			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1247							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTGTCAGCTGCACCCCCAGGT	0.697													11	31					0	0	0	0	T	5410484	C	T	5410484	2	4	199	1	0	0	0	0	0	0	0	1	16433	697	25	4		4	TNRC18	7	5410484	Silent	SNP	C	TCGA-CR-7372-01A-11D-2012-08	1	5410484	153728179	19	35664	277	2									
OGDH	4967	broad.mit.edu	37	chr7	44737087	44737087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagctcactgtctgagtacGgcgtgctgggtgagtgcctg	6	10	15	10	2	2	2	1	2	1	0	2	2	2	2	1	2	4	3	1	2	1	1			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:44737087G>A	ENST00000222673.5	+	16	2212	c.2170G>A	c.(2170-2172)Ggc>Agc	p.G724S	OGDH_ENST00000449767.1_Missense_Mutation_p.G720S|OGDH_ENST00000447398.1_Missense_Mutation_p.G735S|OGDH_ENST00000444676.1_Missense_Mutation_p.G739S|OGDH_ENST00000439616.2_Missense_Mutation_p.G574S|OGDH_ENST00000543843.1_Missense_Mutation_p.G675S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	724					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GTCTGAGTACGGCGTGCTGGG	0.597													12	74					0	0	0	0	A	44737087	G	A	44737087	3	1	199	1	0	0	0	0	1	0	0	0	10910	1116	39	1	2401	1	OGDH	7	44737087	Missense_Mutation	SNP	G	TCGA-CR-7372-01A-11D-2012-08	39326603	44737087	114401576	20	35665											
STEAP4	79689	broad.mit.edu	37	chr7	87913465	87913465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaacagaataaccacaCtggagcattttcaatcccag	18	7	5	11	0	1	1	1	0	0	1	2	2	2	2	2	1	4	1	2	1	6	3			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:87913465C>A	ENST00000380079.4	-	2	221	c.120G>T	c.(118-120)caG>caT	p.Q40H	STEAP4_ENST00000301959.5_Missense_Mutation_p.Q40H|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.Q40H|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	40					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AATAACCACACTGGAGCATTT	0.428													9	58					7.48243e-07	9.32237e-07	1	0	A	87913465	C	A	87913465	3	1	199	1	0	0	0	0	1	0	0	0	15370	564	20	4	1275	4	STEAP4	7	87913465	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08	43176378	87913465	71225198	21	35666											
PTPRZ1	5803	broad.mit.edu	37	chr7	121691548	121691548	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaagcaatgcaacagggaaAagaatcgaacttcttctatc	17	9	7	8	1	2	1	0	0	2	1	4	3	2	2	0	1	4	2	0	1	9	4			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:121691548A>T	ENST00000393386.2	+	24	6562	c.6151A>T	c.(6151-6153)Aag>Tag	p.K2051*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.K1184*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2051	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAACAGGGAAAAGAATCGAAC	0.348													28	60					0	0	0	0	T	121691548	A	T	121691548	4	4	199	1	0	0	0	0	0	1	0	0	12896	15	1	5	6245	5	PTPRZ1	7	121691548	Nonsense_Mutation	SNP	A	TCGA-CR-7372-01A-11D-2012-08	33778083	121691548	37447115	22	35667											
ZFHX4	79776	broad.mit.edu	37	chr8	77690483	77690483	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagtgaatcccgaatccTgctattactactgtgccgtg	8	12	10	11	2	0	1	0	1	0	0	2	2	2	1	3	0	5	2	3	0	5	3			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr8:77690483T>C	ENST00000521891.2	+	4	3581	c.3133T>C	c.(3133-3135)Tgc>Cgc	p.C1045R	ZFHX4_ENST00000518282.1_Missense_Mutation_p.C1019R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.C1019R|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Missense_Mutation_p.C1019R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1019						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCCGAATCCTGCTATTACTA	0.488										HNSCC(33;0.089)			21	151					0	0	0	0	C	77690483	T	C	77690483	3	2	199	1	0	0	0	0	1	0	0	0	17730	1580	55	5	3143	5	ZFHX4	8	77690483	Missense_Mutation	SNP	T	TCGA-CR-7372-01A-11D-2012-08		77690483	68673539	23	35668											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477209	110477209	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcggccatcttgatgaactGggaatggggtctgcattttg	7	13	14	7	1	2	2	0	2	2	0	3	3	2	3	1	4	2	1	1	4	2	3			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr8:110477209G>T	ENST00000378402.5	+	49	8252	c.8148G>T	c.(8146-8148)ctG>ctT	p.L2716L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2716					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L2718L(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGATGAACTGGGAATGGGGT	0.473										HNSCC(38;0.096)			44	113					8.20599e-20	1.19934e-19	1	0	T	110477209	G	T	110477209	2	4	199	1	0	0	0	0	0	0	0	1	12044	1335	47	4		4	PKHD1L1	8	110477209	Silent	SNP	G	TCGA-CR-7372-01A-11D-2012-08	32786726	110477209	35886813	24	35669											
CSMD3	114788	broad.mit.edu	37	chr8	113649178	113649178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaatcccaaagttgaaccCgattcgactaccatattgag	14	9	6	12	2	0	2	0	2	0	0	2	4	1	2	4	0	2	1	4	0	5	5			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr8:113649178C>T	ENST00000297405.5	-	22	3827	c.3583G>A	c.(3583-3585)Ggg>Agg	p.G1195R	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1155R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1091R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1195R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1195	Sushi 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTTGAACCCGATTCGACTA	0.473										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	60					0	0	0	0	T	113649178	C	T	113649178	3	4	199	1	0	0	0	0	1	0	0	0	3978	652	23	1	7740	1	CSMD3	8	113649178	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08	3171969	113649178	32714844	25	35670											
KCNK9	51305	broad.mit.edu	37	chr8	140630972	140630972	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctaaaggccacgtagagCggcttcttctgcagggcacc	10	7	12	12	2	2	1	0	0	2	1	2	1	2	1	2	3	3	5	2	3	4	4			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr8:140630972C>T	ENST00000520439.1	-	2	717	c.654G>A	c.(652-654)ccG>ccA	p.P218P	KCNK9_ENST00000303015.1_Silent_p.P218P			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	218						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CCACGTAGAGCGGCTTCTTCT	0.557													20	99					0	0	0	0	T	140630972	C	T	140630972	2	4	199	1	0	0	0	0	0	0	0	1	8125	755	27	1		1	KCNK9	8	140630972	Silent	SNP	C	TCGA-CR-7372-01A-11D-2012-08	26981794	140630972	5733050	26	35671											
PCSK5	5125	broad.mit.edu	37	chr9	78973755	78973755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggatggcacagtctacCggaaatttaaatatgggctg	12	9	12	8	1	1	0	0	0	1	0	1	2	1	2	2	4	1	2	2	4	5	4			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr9:78973755C>T	ENST00000545128.1	+	37	6038	c.5500C>T	c.(5500-5502)Cgg>Tgg	p.R1834W		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACAGTCTACCGGAAATTTAA	0.478													25	105					0	0	0	0	T	78973755	C	T	78973755	3	4	199	1	0	0	0	0	1	0	0	0	11674	667	23	1		1	PCSK5	9	78973755	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08		78973755	62239676	27	35672											
PTPN3	5774	broad.mit.edu	37	chr9	112200446	112200446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaaaagtcctcattttgatCgggtataaagtgactatcgg	13	13	9	6	2	1	2	1	2	0	0	4	2	2	2	1	2	0	1	1	2	7	6			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr9:112200446C>T	ENST00000412145.1	-	3	2695	c.142G>A	c.(142-144)Gat>Aat	p.D48N	PTPN3_ENST00000262539.3_Missense_Mutation_p.D70N|PTPN3_ENST00000446349.1_Missense_Mutation_p.D48N|PTPN3_ENST00000374541.2_Missense_Mutation_p.D179N	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	179	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCATTTTGATCGGGTATAAAG	0.433													13	49					0	0	0	0	T	112200446	C	T	112200446	3	4	199	1	0	0	0	0	1	0	0	0	12871	884	31	1	2282	1	PTPN3	9	112200446	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08	33226691	112200446	29012985	28	35673											
TTLL11	158135	broad.mit.edu	37	chr9	124751527	124751527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtctgactggtagaagaCtttgagctctggagtcagcg	9	11	14	7	1	3	4	1	2	2	2	3	6	3	5	0	2	2	2	0	2	2	2			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr9:124751527C>T	ENST00000321582.5	-	4	1673	c.1486G>A	c.(1486-1488)Gtc>Atc	p.V496I	TTLL11_ENST00000373776.3_Missense_Mutation_p.V496I|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	496	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						TGGTAGAAGACTTTGAGCTCT	0.562													14	77					0	0	0	0	T	124751527	C	T	124751527	3	4	199	1	0	0	0	0	1	0	0	0	16820	565	20	4	1018	4	TTLL11	9	124751527	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08	12551081	124751527	16461904	29	35674											
KIAA1217	56243	broad.mit.edu	37	chr10	24834796	24834796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggtggggactttaagcCtacttccccctccttacctg	6	13	8	14	0	1	0	0	0	1	0	3	1	3	1	5	3	3	0	5	3	3	5			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr10:24834796C>T	ENST00000376454.3	+	21	5405	c.5375C>T	c.(5374-5376)cCt>cTt	p.P1792L	KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P1113L|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1223L|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1198L	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1792					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GACTTTAAGCCTACTTCCCCC	0.493													14	107					0	0	0	0	T	24834796	C	T	24834796	3	4	199	1	0	0	0	0	1	0	0	0	8267	681	24	4	5457	4	KIAA1217	10	24834796	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08		24834796	110699951	30	35675											
TDRD1	56165	broad.mit.edu	37	chr10	115962045	115962045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgaaacaaaggatgtggaGgtaaacaataaggtatggta	18	9	12	2	0	0	1	0	1	0	0	0	3	0	3	0	5	2	3	0	5	8	5			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr10:115962045G>A	ENST00000251864.2	+	6	837	c.684G>A	c.(682-684)gaG>gaA	p.E228E	TDRD1_ENST00000369282.1_Silent_p.E228E|TDRD1_ENST00000369280.1_Silent_p.E228E|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369281.2_Silent_p.E228E	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	228					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AGGATGTGGAGGTAAACAATA	0.264													11	21					0	0	0	0	A	115962045	G	A	115962045	2	1	199	1	0	0	0	0	0	0	0	1	15824	991	35	4		4	TDRD1	10	115962045	Silent	SNP	G	TCGA-CR-7372-01A-11D-2012-08	91127249	115962045	19572702	31	35676											
IPO7	10527	broad.mit.edu	37	chr11	9445348	9445348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatccaagatgttatttttCcattgatgtgctatacagat	11	18	6	6	0	0	3	0	1	0	2	2	3	2	3	2	0	2	2	2	0	5	7			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr11:9445348C>A	ENST00000379719.3	+	10	1208	c.1066C>A	c.(1066-1068)Cca>Aca	p.P356T		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	356					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	p.P356S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGTTATTTTTCCATTGATGTG	0.308													13	45					4.3838e-07	5.55281e-07	1	0	A	9445348	C	A	9445348	3	1	199	1	0	0	0	0	1	0	0	0	7850	855	30	2	1104	2	IPO7	11	9445348	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08		9445348	125561168	32	35677											
OR5M8	219484	broad.mit.edu	37	chr11	56258616	56258616	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatctccagcatctttggAgtcacattggaagagaagca	15	9	9	8	0	3	1	1	0	2	1	4	4	3	3	1	2	2	2	1	2	4	2			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr11:56258616A>G	ENST00000327216.2	-	1	255	c.231T>C	c.(229-231)acT>acC	p.T77T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCATCTTTGGAGTCACATTGG	0.468													8	89					0	0	0	0	G	56258616	A	G	56258616	2	3	199	1	0	0	0	0	0	0	0	1	11247	291	11	5		5	OR5M8	11	56258616	Silent	SNP	A	TCGA-CR-7372-01A-11D-2012-08	46813268	56258616	78747900	33	35678											
PRB4	5545	broad.mit.edu	37	chr12	11461743	11461743	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccttgtgggggtggtccTtgtggctttcctggaggagg	2	13	17	9	0	0	0	0	0	0	0	3	2	3	2	4	7	0	1	4	7	0	3			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr12:11461743T>C	ENST00000279575.1	-	3	207	c.174A>G	c.(172-174)caA>caG	p.Q58Q	PRB4_ENST00000535904.1_Silent_p.Q58Q|PRB4_ENST00000445719.2_Silent_p.Q58Q	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	58	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGGGTGGTCCTTGTGGCTTTC	0.622										HNSCC(22;0.051)			94	290					0	0	0	0	C	11461743	T	C	11461743	2	2	199	1	0	0	0	0	0	0	0	1	12525	1606	56	5		5	PRB4	12	11461743	Silent	SNP	T	TCGA-CR-7372-01A-11D-2012-08		11461743	122390152	34	35679											
GRIP1	23426	broad.mit.edu	37	chr12	66786267	66786267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatagggaacttcttggggCtcgatgctgactgggcttta	9	12	13	7	1	1	1	0	1	1	0	2	3	1	2	0	4	2	3	0	4	4	5			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr12:66786267C>A	ENST00000359742.4	-	19	2525	c.2285G>T	c.(2284-2286)aGc>aTc	p.S762I	GRIP1_ENST00000398016.3_Missense_Mutation_p.S710I|GRIP1_ENST00000286445.7_Missense_Mutation_p.S762I			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	762					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTTCTTGGGGCTCGATGCTGA	0.453													13	99					9.31168e-06	1.12331e-05	1	0	A	66786267	C	A	66786267	3	1	199	1	0	0	0	0	1	0	0	0	6837	797	28	4	1129	4	GRIP1	12	66786267	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08	55324524	66786267	67065628	35	35680											
POLE	5426	broad.mit.edu	37	chr12	133215740	133215740	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcttcttcatcatgttgtgGagtgtgcggtgcagggcagg	6	12	16	7	1	3	0	2	0	1	0	3	1	3	1	0	4	3	4	0	4	0	3			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr12:133215740G>A	ENST00000320574.5	-	40	5566	c.5523C>T	c.(5521-5523)ctC>ctT	p.L1841L	POLE_ENST00000535270.1_Silent_p.L1814L|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1841					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCATGTTGTGGAGTGTGCGGT	0.582								DNA polymerases (catalytic subunits)			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	35					0	0	0	0	A	133215740	G	A	133215740	2	1	199	1	0	0	0	0	0	0	0	1	12268	1161	41	2		2	POLE	12	133215740	Silent	SNP	G	TCGA-CR-7372-01A-11D-2012-08	66429473	133215740	636155	36	35681											
DIAPH3	81624	broad.mit.edu	37	chr13	60384961	60384961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgctttttcttttgttggcGttcgagtctttctcgctctg	2	20	9	10	4	4	0	0	0	4	0	6	1	4	0	0	1	0	4	0	1	0	7			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr13:60384961G>A	ENST00000400324.4	-	25	3344	c.3124C>T	c.(3124-3126)Cgc>Tgc	p.R1042C	DIAPH3_ENST00000267215.4_Missense_Mutation_p.R1042C|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R1042C|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R1031C|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R972C|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R996C	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1042					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTTTGTTGGCGTTCGAGTCTT	0.323													3	33					0	0	0	0	A	60384961	G	A	60384961	3	1	199	1	0	0	0	0	1	0	0	0	4557	1145	40	1	493	1	DIAPH3	13	60384961	Missense_Mutation	SNP	G	TCGA-CR-7372-01A-11D-2012-08		60384961	54784917	37	35682											
NALCN	259232	broad.mit.edu	37	chr13	101714441	101714441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagctgcaagctcttcCggatgtccacggaccggtat	7	9	10	15	3	1	0	0	0	1	0	4	2	4	2	5	3	3	4	5	3	2	2			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr13:101714441C>T	ENST00000251127.6	-	41	4715	c.4634G>A	c.(4633-4635)cGg>cAg	p.R1545Q		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1545						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAAGCTCTTCCGGATGTCCAC	0.542													13	43					0	0	0	0	T	101714441	C	T	101714441	3	4	199	1	0	0	0	0	1	0	0	0	10218	652	23	1	598	1	NALCN	13	101714441	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08	41329480	101714441	13455437	38	35683											
ESRRB	2103	broad.mit.edu	37	chr14	76965245	76965245	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctggaggttttccttccGcagagggcaggtacgcaagg	8	8	14	11	2	0	1	0	0	0	1	2	2	2	2	3	5	1	5	3	5	2	4			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr14:76965245G>A	ENST00000261532.7	+	8	1545	c.1473G>A	c.(1471-1473)ccG>ccA	p.P491P	ESRRB_ENST00000380887.2_Intron|RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000509242.1_Intron			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TTTTCCTTCCGCAGAGGGCAG	0.587													12	31					0	0	0	0	A	76965245	G	A	76965245	2	1	199	1	0	0	0	0	0	0	0	1	5299	1102	38	1		1	ESRRB	14	76965245	Silent	SNP	G	TCGA-CR-7372-01A-11D-2012-08		76965245	30384295	39	35684											
TP53BP1	7158	broad.mit.edu	37	chr15	43705366	43705366	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatctggcagtttggagcgGctggccaacttgtcactggt	6	11	13	11	1	2	0	1	0	1	0	2	1	2	1	2	5	2	3	2	5	1	2			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr15:43705366G>A	ENST00000263801.3	-	24	5493	c.5241C>T	c.(5239-5241)agC>agT	p.S1747S	TP53BP1_ENST00000382039.3_Silent_p.S1702S|TP53BP1_ENST00000382044.4_Silent_p.S1752S|TP53BP1_ENST00000450115.2_Silent_p.S1750S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1747	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTTTGGAGCGGCTGGCCAACT	0.537								Other conserved DNA damage response genes					3	64					0	0	0	0	A	43705366	G	A	43705366	2	1	199	1	0	0	0	0	0	0	0	1	16478	1194	42	4		4	TP53BP1	15	43705366	Silent	SNP	G	TCGA-CR-7372-01A-11D-2012-08		43705366	58826026	40	35685											
MAP1A	4130	broad.mit.edu	37	chr15	43815758	43815758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtaactccaaggagccGggaggcttttgggggtcggg	8	7	19	7	2	0	0	0	0	0	0	2	3	1	2	2	7	2	2	2	7	3	3			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr15:43815758G>T	ENST00000382031.1	+	5	2832	c.2801G>T	c.(2800-2802)cGg>cTg	p.R934L	MAP1A_ENST00000300231.5_Missense_Mutation_p.R696L|MAP1A_ENST00000399453.1_Missense_Mutation_p.R696L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	696						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAAGGAGCCGGGAGGCTTTT	0.547													7	24					8.12818e-05	9.50372e-05	1	0	T	43815758	G	T	43815758	3	4	199	1	0	0	0	0	1	0	0	0	9296	1116	39	3	2089	3	MAP1A	15	43815758	Missense_Mutation	SNP	G	TCGA-CR-7372-01A-11D-2012-08	110392	43815758	58715634	41	35686											
DUOX1	53905	broad.mit.edu	37	chr15	45439652	45439652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctggacatcaaccaggccGacgcagggaccctgcccctg	8	5	12	16	2	1	0	1	0	0	0	1	3	1	2	5	3	3	2	5	3	1	0			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr15:45439652G>A	ENST00000321429.4	+	20	2751	c.2344G>A	c.(2344-2346)Gac>Aac	p.D782N	DUOX1_ENST00000389037.3_Missense_Mutation_p.D782N|DUOX1_ENST00000561166.1_Missense_Mutation_p.D428N	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	782					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAACCAGGCCGACGCAGGGAC	0.637													3	19					0	0	0	0	A	45439652	G	A	45439652	3	1	199	1	0	0	0	0	1	0	0	0	4836	1058	37	1	2414	1	DUOX1	15	45439652	Missense_Mutation	SNP	G	TCGA-CR-7372-01A-11D-2012-08	1623894	45439652	57091740	42	35687											
UNC13C	440279	broad.mit.edu	37	chr15	54542506	54542506	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaattttgaggtctggacGgctaccacacccacctactg	10	9	8	14	1	1	1	0	1	1	0	1	2	1	2	3	3	2	1	3	3	3	4			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr15:54542506G>A	ENST00000545554.1	+	7	3312	c.3312G>A	c.(3310-3312)acG>acA	p.T1104T	UNC13C_ENST00000260323.11_Silent_p.T1104T|UNC13C_ENST00000537900.1_Silent_p.T1102T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1104					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGGTCTGGACGGCTACCACAC	0.493													17	37					0	0	0	0	A	54542506	G	A	54542506	2	1	199	1	0	0	0	0	0	0	0	1	17082	1103	39	1		1	UNC13C	15	54542506	Silent	SNP	G	TCGA-CR-7372-01A-11D-2012-08	9102854	54542506	47988886	43	35688											
POLG	5428	broad.mit.edu	37	chr15	89871966	89871966	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccttcacaaacagttctcGaggctccttctctaagggag	9	10	9	13	1	3	0	1	0	2	0	6	2	4	1	2	2	1	2	2	2	2	4			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr15:89871966G>A	ENST00000268124.5	-	5	1453	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	POLG_ENST00000442287.2_Nonsense_Mutation_p.R374*	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	374					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AACAGTTCTCGAGGCTCCTTC	0.567								DNA polymerases (catalytic subunits)					8	187					0	0	0	0	A	89871966	G	A	89871966	4	1	199	1	0	0	0	0	0	1	0	0	12272	1066	37	1	2675	1	POLG	15	89871966	Nonsense_Mutation	SNP	G	TCGA-CR-7372-01A-11D-2012-08	35329460	89871966	12659426	44	35689											
SEC14L5	9717	broad.mit.edu	37	chr16	5058627	5058627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaggctccccttgtctGccgggagggggagagcatcc	5	8	17	11	1	1	1	0	0	1	1	3	4	3	3	4	5	2	2	4	5	0	1			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr16:5058627G>T	ENST00000251170.7	+	14	1958	c.1778G>T	c.(1777-1779)tGc>tTc	p.C593F		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	593	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCCCTTGTCTGCCGGGAGGGG	0.637													22	83					1.96895e-08	2.67214e-08	1	0	T	5058627	G	T	5058627	3	4	199	1	0	0	0	0	1	0	0	0	14072	1319	46	4	1828	4	SEC14L5	16	5058627	Missense_Mutation	SNP	G	TCGA-CR-7372-01A-11D-2012-08		5058627	85296126	45	35690											
CNOT1	23019	broad.mit.edu	37	chr16	58633241	58633241	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgagagcgagtcaagattcaTtgctggttggggcggaagca	10	8	16	7	3	2	2	2	0	0	2	2	5	2	3	0	4	3	3	0	4	2	3			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr16:58633241T>C	ENST00000317147.5	-	2	333	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CNOT1_ENST00000569240.1_Start_Codon_SNP_p.M1V|CNOT1_ENST00000441024.2_Start_Codon_SNP_p.M1V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCAAGATTCATTGCTGGTTGG	0.498													20	56					0	0	0	0	C	58633241	T	C	58633241	1	2	199	1	0	0	0	0	0	0	0	0	3647	1493	52	5		5	CNOT1	16	58633241	Translation_Start_Site	SNP	T	TCGA-CR-7372-01A-11D-2012-08	53574614	58633241	31721512	46	35691											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67859620	67859620	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggctcttaagatgaccCggcaagacctgacccgcacg	9	6	10	16	3	1	4	0	2	1	2	1	4	1	4	4	2	0	3	4	2	2	1			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr16:67859620C>A	ENST00000388833.3	+	8	1080	c.703C>A	c.(703-705)Cgg>Agg	p.R235R	TSNAXIP1_ENST00000561639.1_Silent_p.R289R|TSNAXIP1_ENST00000415766.3_Silent_p.R220R	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	235					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TAAGATGACCCGGCAAGACCT	0.582													4	217					0.00909568	0.0103175	1	0	A	67859620	C	A	67859620	2	1	199	1	0	0	0	0	0	0	0	1	16727	643	23	3		3	TSNAXIP1	16	67859620	Silent	SNP	C	TCGA-CR-7372-01A-11D-2012-08	9226379	67859620	22495133	47	35692											
AP1G1	164	broad.mit.edu	37	chr16	71784153	71784153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttgtacaggcgctggAcagtataggcatgcatctcc	8	12	11	10	1	1	0	0	0	1	0	2	1	1	1	1	3	3	6	1	3	3	5			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr16:71784153A>G	ENST00000299980.4	-	14	1808	c.1367T>C	c.(1366-1368)gTc>gCc	p.V456A	AP1G1_ENST00000423132.2_Missense_Mutation_p.V459A|AP1G1_ENST00000433195.2_Missense_Mutation_p.V479A|AP1G1_ENST00000393512.3_Missense_Mutation_p.V459A|AP1G1_ENST00000569748.1_Missense_Mutation_p.V456A	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	456					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CAGGCGCTGGACAGTATAGGC	0.378													19	157					0	0	0	0	G	71784153	A	G	71784153	3	3	199	1	0	0	0	0	1	0	0	0	733	275	10	5	1141	5	AP1G1	16	71784153	Missense_Mutation	SNP	A	TCGA-CR-7372-01A-11D-2012-08	3924533	71784153	18570600	48	35693											
TP53	7157	broad.mit.edu	37	chr17	7579450	7579451	+	Frame_Shift_Ins	INS	-	-	G																															caggggccgccggtgtaggaINSgctgctggtgcaggggccac																										TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr17:7579450_7579451insG	ENST00000420246.2	-	4	368_369	c.236_237insC	c.(235-237)gccfs	p.A79fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.A79fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.A79fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.A79fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.A79fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.A79fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	79	Interaction with HRMT1L2.|Interaction with WWOX.		A -> G (in a sporadic cancer; somatic mutation).|A -> T (in a sporadic cancer; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.A79V(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTGTAGGAGCTGCTGGTGC	0.624		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			80	81	---	---	---	---					G	7579451	-	G	7579450	7	5	199	1	0	1	1	0	0	0	0	0	16476	291	11	0	1065	0	TP53	17	7579450	Frame_Shift_Ins	INS	-	TCGA-CR-7372-01A-11D-2012-08		7579450	73615760	49	35694											
DNAH17	8632	broad.mit.edu	37	chr17	76526453	76526453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgtggttgctcaggtgccGcttgaacatgaagccccagc	8	8	13	12	2	1	2	1	2	0	0	1	3	1	2	3	2	5	3	3	2	2	2			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr17:76526453G>A	ENST00000389840.5	-	21	3380	c.3256C>T	c.(3256-3258)Cgg>Tgg	p.R1086W	DNAH17_ENST00000585328.1_Missense_Mutation_p.R1083W					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCAGGTGCCGCTTGAACATG	0.627													15	40					0	0	0	0	A	76526453	G	A	76526453	3	1	199	1	0	0	0	0	1	0	0	0	4638	1086	38	1	10376	1	DNAH17	17	76526453	Missense_Mutation	SNP	G	TCGA-CR-7372-01A-11D-2012-08	68947003	76526453	4668757	50	35695											
DSC2	1824	broad.mit.edu	37	chr18	28651727	28651727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtgacactagacatgcCaagtctatctctcactgtta	12	12	7	10	0	3	3	1	2	2	1	4	3	3	3	1	0	1	1	1	0	5	3			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr18:28651727C>T	ENST00000280904.6	-	13	2412	c.1969G>A	c.(1969-1971)Ggc>Agc	p.G657S	DSC2_ENST00000251081.6_Missense_Mutation_p.G657S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	657	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTAGACATGCCAAGTCTATCT	0.408													9	16					0	0	0	0	T	28651727	C	T	28651727	3	4	199	1	0	0	0	0	1	0	0	0	4802	594	21	4	792	4	DSC2	18	28651727	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08		28651727	49425521	51	35696											
DTNA	1837	broad.mit.edu	37	chr18	32443990	32443990	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggagagccggagagagctAatggtccagttggagggtct	10	7	17	7	1	1	2	0	0	1	2	2	6	2	4	2	5	2	2	2	5	1	2			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr18:32443990A>G	ENST00000283365.9	+	16	1806	c.1455A>G	c.(1453-1455)ctA>ctG	p.L485L	DTNA_ENST00000444659.1_Silent_p.L542L|DTNA_ENST00000348997.5_Silent_p.L539L|DTNA_ENST00000399121.5_Silent_p.L482L|DTNA_ENST00000597599.1_Silent_p.L482L|DTNA_ENST00000269191.6_Silent_p.L542L|DTNA_ENST00000591182.1_Silent_p.L190L|DTNA_ENST00000556414.3_Silent_p.L194L|DTNA_ENST00000597674.1_Silent_p.L164L|DTNA_ENST00000399097.3_Silent_p.L190L|DTNA_ENST00000595022.1_Silent_p.L482L|DTNA_ENST00000399113.3_Silent_p.L542L|DTNA_ENST00000269190.7_Silent_p.L543L|DTNA_ENST00000598142.1_Silent_p.L485L|DTNA_ENST00000598774.1_Silent_p.L485L|DTNA_ENST00000599844.1_Silent_p.*163*|DTNA_ENST00000598334.1_Silent_p.L482L|DTNA_ENST00000596745.1_Silent_p.L292L|DTNA_ENST00000269192.7_Silent_p.L251L|DTNA_ENST00000601125.1_Silent_p.L164L	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	542					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GGAGAGAGCTAATGGTCCAGT	0.458													7	8					0	0	0	0	G	32443990	A	G	32443990	2	3	199	1	0	0	0	0	0	0	0	1	4824	349	13	5		5	DTNA	18	32443990	Silent	SNP	A	TCGA-CR-7372-01A-11D-2012-08	3792263	32443990	45633258	52	35697											
ATP8B3	148229	broad.mit.edu	37	chr19	1784856	1784856	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggctgggaagatgactcGgagggccaggacagggaagg	11	3	21	6	1	0	2	0	1	0	1	1	7	0	6	1	7	0	1	1	7	2	0			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:1784856G>A	ENST00000539485.1	-	28	3885	c.3652C>T	c.(3652-3654)Cga>Tga	p.R1218*	ATP8B3_ENST00000310127.6_Nonsense_Mutation_p.R1208*|ATP8B3_ENST00000525591.1_Nonsense_Mutation_p.R1171*			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1208					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		AAGATGACTCGGAGGGCCAGG	0.622													3	23					0	0	0	0	A	1784856	G	A	1784856	4	1	199	1	0	0	0	0	0	1	0	0	1200	1124	39	1	288	1	ATP8B3	19	1784856	Nonsense_Mutation	SNP	G	TCGA-CR-7372-01A-11D-2012-08		1784856	57344127	53	35698											
ZNF792	126375	broad.mit.edu	37	chr19	35450296	35450296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacaaatggtttctgcctggGatgtgttgtctggtgttcag	6	15	13	7	0	3	0	1	0	2	0	3	1	3	1	1	3	1	3	1	3	1	3			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:35450296G>T	ENST00000404801.1	-	4	849	c.463C>A	c.(463-465)Ccc>Acc	p.P155T	ZNF792_ENST00000605484.1_Missense_Mutation_p.P88T	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCTGCCTGGGATGTGTTGTC	0.507													76	112					3.00167e-28	4.47308e-28	1	0	T	35450296	G	T	35450296	3	4	199	1	0	0	0	0	1	0	0	0	18257	1174	41	2	1439	2	ZNF792	19	35450296	Missense_Mutation	SNP	G	TCGA-CR-7372-01A-11D-2012-08	33665440	35450296	23678687	54	35699											
CLIP3	25999	broad.mit.edu	37	chr19	36515479	36515479	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgcctctgccttgtccAgggacatgtccataggatct	6	11	11	13	1	2	0	0	0	2	0	4	2	4	2	5	2	2	0	5	2	1	2			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:36515479A>G	ENST00000360535.4	-	7	964	c.737T>C	c.(736-738)cTg>cCg	p.L246P	CLIP3_ENST00000593074.1_Missense_Mutation_p.L246P|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	246					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGCCTTGTCCAGGGACATGTC	0.612													3	59					0	0	0	0	G	36515479	A	G	36515479	3	3	199	1	0	0	0	0	1	0	0	0	3564	188	7	5	938	5	CLIP3	19	36515479	Missense_Mutation	SNP	A	TCGA-CR-7372-01A-11D-2012-08	1065183	36515479	22613504	55	35700											
CIC	23152	broad.mit.edu	37	chr19	42793503	42793503	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggccagtgaggacatgacGagtgatgaggagcgcatggt	10	6	18	7	3	0	4	0	4	0	0	0	7	0	6	1	4	1	1	1	4	0	0			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:42793503G>A	ENST00000572681.2	+	9	4100	c.4032G>A	c.(4030-4032)acG>acA	p.T1344T	CIC_ENST00000160740.3_Silent_p.T435T|CIC_ENST00000575354.2_Silent_p.T435T			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGGACATGACGAGTGATGAGG	0.642			"Mis, F, S"		oligodendroglioma								9	22					0	0	0	0	A	42793503	G	A	42793503	2	1	199	1	0	0	0	0	0	0	0	1	3453	1045	37	1		1	CIC	19	42793503	Silent	SNP	G	TCGA-CR-7372-01A-11D-2012-08	6278024	42793503	16335480	56	35701											
ZNF473	25888	broad.mit.edu	37	chr19	50549981	50549981	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaaaagccttatgtttgtCaggaatgcgggaaagccttc	12	10	12	7	1	1	1	1	0	0	1	2	4	1	3	2	2	3	1	2	2	5	3			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:50549981C>T	ENST00000595661.1	+	6	2776	c.2281C>T	c.(2281-2283)Cag>Tag	p.Q761*	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.Q749*|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.Q761*|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.Q761*|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	761					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TTATGTTTGTCAGGAATGCGG	0.522											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	84					0	0	0	0	T	50549981	C	T	50549981	4	4	199	1	0	0	0	0	0	1	0	0	18026	827	29	2	2295	2	ZNF473	19	50549981	Nonsense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08	7756478	50549981	8579002	57	35702											
SLC5A1	6523	broad.mit.edu	37	chr22	32498104	32498104	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagctgcatggagcccagCaactgtcccacgattatctg	9	8	12	12	1	1	0	0	0	1	0	2	3	2	2	2	2	5	3	2	2	2	1			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr22:32498104C>A	ENST00000266088.4	+	13	1795	c.1545C>A	c.(1543-1545)agC>agA	p.S515R	SLC5A1_ENST00000543737.1_Missense_Mutation_p.S388R	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	515					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TGGAGCCCAGCAACTGTCCCA	0.498													15	130					2.32078e-09	3.2069e-09	1	0	A	32498104	C	A	32498104	3	1	199	1	0	0	0	0	1	0	0	0	14749	709	25	4	1595	4	SLC5A1	22	32498104	Missense_Mutation	SNP	C	TCGA-CR-7372-01A-11D-2012-08		32498104	18806462	58	35703											
DMD	1756	broad.mit.edu	37	chrX	31200900	31200900	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatgttacatttggccTgatgcttggcagtttctgca	7	15	11	8	0	1	2	0	1	1	1	1	2	1	2	1	2	4	6	1	2	1	4			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chrX:31200900T>C	ENST00000357033.4	-	68	10135	c.9929A>G	c.(9928-9930)cAg>cGg	p.Q3310R	DMD_ENST00000343523.2_Missense_Mutation_p.Q850R|DMD_ENST00000378677.2_Missense_Mutation_p.Q3306R|DMD_ENST00000378680.2_Missense_Mutation_p.Q242R|DMD_ENST00000378702.4_Missense_Mutation_p.Q242R|DMD_ENST00000378707.3_Missense_Mutation_p.Q850R|DMD_ENST00000378723.3_Missense_Mutation_p.Q242R|DMD_ENST00000541735.1_Missense_Mutation_p.Q850R|DMD_ENST00000359836.1_Missense_Mutation_p.Q850R|DMD_ENST00000361471.4_Missense_Mutation_p.Q242R|DMD_ENST00000474231.1_Missense_Mutation_p.Q850R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3310	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACATTTGGCCTGATGCTTGGC	0.458													3	57					0	0	0	0	C	31200900	T	C	31200900	3	2	199	1	0	0	0	0	1	0	0	0	4617	1580	55	5	1266	5	DMD	23	31200900	Missense_Mutation	SNP	T	TCGA-CR-7372-01A-11D-2012-08		31200900	124069660	59	35704											
PPP1R3F	89801	broad.mit.edu	37	chrX	49137917	49137919	+	In_Frame_Del	DEL	TGC	TGC	-																															aacatggatgataacaccttTgccatgggtaagcaattggc																										TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chrX:49137917_49137919delTGC	ENST00000055335.6	+	2	1069_1071	c.1053_1055delTGC	c.(1051-1056)ttc>tt	p.FA351del	PPP1R3F_ENST00000376188.1_In_Frame_Del_p.FA6del|PPP1R3F_ENST00000495799.1_In_Frame_Del_p.FA6del|PPP1R3F_ENST00000466508.1_In_Frame_Del_p.FA6del|PPP1R3F_ENST00000438316.1_In_Frame_Del_p.FA23del	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	351			F -> S (in dbSNP:rs17148347).			integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					ATAACACCTTTGCCATGGGTAAG	0.438													7	10	---	---	---	---					-	49137919	TGC	-	49137917	7	5	199	1	0	1	0	1	0	0	0	0	12451	1809	63	0	1059	0	PPP1R3F	23	49137917	In_Frame_Del	DEL	TGC	TCGA-CR-7372-01A-11D-2012-08	17937017	49137917	106132643	60	35705											
IPO13	9670	broad.mit.edu	37	chr1	44415762	44415762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttgctgctctgcaggactCggagctcttcgacagcagtg	6	11	12	12	2	2	0	0	0	2	0	4	3	2	2	0	2	5	5	0	2	0	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:44415762C>T	ENST00000372343.3	+	2	1420	c.758C>T	c.(757-759)tCg>tTg	p.S253L		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	253					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTGCAGGACTCGGAGCTCTTC	0.577													12	27					0	0	0	0	T	44415762	C	T	44415762	3	4	200	1	0	0	0	0	1	0	0	0	7847	893	31	1	764	1	IPO13	1	44415762	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08		44415762	204834859	1	35706											
DNTTIP2	30836	broad.mit.edu	37	chr1	94342345	94342345	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagtcacttgcttttatGgggctctttttgttgttatt	5	21	9	6	0	3	0	2	0	1	0	3	0	3	0	0	2	1	4	0	2	3	8			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:94342345G>A	ENST00000436063.2	-	2	1203	c.1146C>T	c.(1144-1146)ccC>ccT	p.P382P	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTGCTTTTATGGGGCTCTTTT	0.398													139	171					0	0	0	0	A	94342345	G	A	94342345	2	1	200	1	0	0	0	0	0	0	0	1	4718	1335	47	4		4	DNTTIP2	1	94342345	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	49926583	94342345	154908276	2	35707											
DDX20	11218	broad.mit.edu	37	chr1	112309065	112309065	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaaaggaaataagtcataCttggaaggctcttctgataa	16	10	9	6	0	3	1	1	1	2	0	3	3	3	3	0	3	2	2	0	3	6	5			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:112309065C>T	ENST00000475700.1	+	3	3201	c.843C>T	c.(841-843)taC>taT	p.Y281Y	DDX20_ENST00000369702.4_Silent_p.Y673Y			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	673					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAGTCATACTTGGAAGGCT	0.453													14	43					0	0	0	0	T	112309065	C	T	112309065	2	4	200	1	0	0	0	0	0	0	0	1	4380	576	20	4		4	DDX20	1	112309065	Silent	SNP	C	TCGA-CR-7373-01A-11D-2012-08	17966720	112309065	136941556	3	35708											
FLG	2312	broad.mit.edu	37	chr1	152276170	152276170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatccttgtcttcctccaGtactgggcccagcccgtcca	5	10	10	16	1	1	0	0	0	1	0	5	1	5	1	6	2	2	1	6	2	1	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:152276170G>A	ENST00000368799.1	-	3	11227	c.11192C>T	c.(11191-11193)aCt>aTt	p.T3731I	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3731	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCCTCCAGTACTGGGCCC	0.617									Ichthyosis				139	307					0	0	0	0	A	152276170	G	A	152276170	3	1	200	1	0	0	0	0	1	0	0	0	5967	1029	36	4	997	4	FLG	1	152276170	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	39967105	152276170	96974451	4	35709											
IVL	3713	broad.mit.edu	37	chr1	152883939	152883939	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggccaggtccaagacattCaaccagccctgcccacaaag	13	4	8	16	0	1	1	1	0	0	1	2	1	2	1	5	2	3	0	5	2	3	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:152883939C>T	ENST00000368764.3	+	2	1730	c.1666C>T	c.(1666-1668)Caa>Taa	p.Q556*	IVL_ENST00000392667.2_Nonsense_Mutation_p.Q410*			P07476	INVO_HUMAN	involucrin	556					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAGACATTCAACCAGCCCT	0.592													19	53					0	0	0	0	T	152883939	C	T	152883939	4	4	200	1	0	0	0	0	0	1	0	0	7982	827	29	2	1668	2	IVL	1	152883939	Nonsense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	607769	152883939	96366682	5	35710											
S100A2	6273	broad.mit.edu	37	chr1	153533987	153533987	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgccaggaaaacagcataCtcctggaagtccacctgctg	12	7	10	12	0	0	0	0	0	0	0	2	2	2	2	4	2	5	2	4	2	4	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:153533987C>T	ENST00000368708.3	-	3	594	c.222G>A	c.(220-222)gaG>gaA	p.E74E	S100A2_ENST00000487430.2_Silent_p.E74E|S100A2_ENST00000497140.1_Silent_p.E41E|S100A2_ENST00000368707.4_3'UTR|S100A2_ENST00000368710.1_Silent_p.E74E|S100A2_ENST00000368709.1_Silent_p.E74E	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	75	EF-hand 2.				endothelial cell migration		calcium ion binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAACAGCATACTCCTGGAAGT	0.527													56	149					0	0	0	0	T	153533987	C	T	153533987	2	4	200	1	0	0	0	0	0	0	0	1	13863	564	20	4		4	S100A2	1	153533987	Silent	SNP	C	TCGA-CR-7373-01A-11D-2012-08	650048	153533987	95716634	6	35711											
RAB13	5872	broad.mit.edu	37	chr1	153957221	153957221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtagtttgatcttcttcCcctctatatccacagtgcgg	6	16	7	12	1	3	1	0	1	3	0	5	1	5	1	3	1	1	2	3	1	3	7			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:153957221C>T	ENST00000368575.3	-	2	276	c.161G>A	c.(160-162)gGg>gAg	p.G54E	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	54					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GATCTTCTTCCCCTCTATATC	0.448													4	31					0	0	0	0	T	153957221	C	T	153957221	3	4	200	1	0	0	0	0	1	0	0	0	12981	623	22	4	478	4	RAB13	1	153957221	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	423234	153957221	95293400	7	35712											
OR10J5	127385	broad.mit.edu	37	chr1	159505792	159505792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttctgtgaagttctttctCttcattctgctatatcagtg	7	19	6	9	0	6	1	2	1	4	0	7	1	6	1	0	0	1	2	0	0	3	7			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:159505792C>G	ENST00000334857.2	-	1	50	c.6G>C	c.(4-6)aaG>aaC	p.K2N		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGTTCTTTCTCTTCATTCTGC	0.348													14	32					0	0	0	0	G	159505792	C	G	159505792	3	3	200	1	0	0	0	0	1	0	0	0	10983	912	32	2	925	2	OR10J5	1	159505792	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	5548571	159505792	89744829	8	35713											
ATP1A2	477	broad.mit.edu	37	chr1	160109482	160109482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggcgttggctgcctttCtctcttactgcccaggcatg	5	12	11	13	2	2	1	0	0	2	1	3	1	2	1	2	3	3	3	2	3	1	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:160109482C>A	ENST00000361216.3	+	21	2982	c.2893C>A	c.(2893-2895)Ctc>Atc	p.L965I	ATP1A2_ENST00000392233.3_Missense_Mutation_p.L965I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	965					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCTGCCTTTCTCTCTTACTG	0.582													18	51					6.49762e-13	9.08758e-13	1	0	A	160109482	C	A	160109482	3	1	200	1	0	0	0	0	1	0	0	0	1133	913	32	2	2975	2	ATP1A2	1	160109482	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	603690	160109482	89141139	9	35714											
RXRG	6258	broad.mit.edu	37	chr1	165378880	165378880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggatgccatcctgcaCggaaactgagcggtgggaga	12	5	15	9	2	0	3	0	1	0	2	1	6	1	5	2	4	4	1	2	4	2	0			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:165378880C>T	ENST00000359842.5	-	7	1263	c.961G>A	c.(961-963)Gtg>Atg	p.V321M		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	321	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CCATCCTGCACGGAAACTGAG	0.532													8	21					0	0	0	0	T	165378880	C	T	165378880	3	4	200	1	0	0	0	0	1	0	0	0	13850	536	19	1	446	1	RXRG	1	165378880	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	5269398	165378880	83871741	10	35715											
PTPRC	5788	broad.mit.edu	37	chr1	198685828	198685828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaaaaagattgcctcaatCtggataaaaacctgatcaaa	19	8	6	8	0	3	3	2	1	1	2	3	4	3	4	2	1	2	0	2	1	7	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:198685828C>G	ENST00000367376.2	+	13	1474	c.1303C>G	c.(1303-1305)Ctg>Gtg	p.L435V	PTPRC_ENST00000352140.3_Missense_Mutation_p.L387V|PTPRC_ENST00000348564.6_Missense_Mutation_p.L276V|PTPRC_ENST00000594404.1_Missense_Mutation_p.L274V|PTPRC_ENST00000442510.2_Missense_Mutation_p.L437V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	435	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTGCCTCAATCTGGATAAAAA	0.303													12	54					0	0	0	0	G	198685828	C	G	198685828	3	3	200	1	0	0	0	0	1	0	0	0	12879	912	32	2	1360	2	PTPRC	1	198685828	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	33306948	198685828	50564793	11	35716											
DUSP10	11221	broad.mit.edu	37	chr1	221913036	221913036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatcctgaggtcggacGggcctagatagtgccactac	9	9	13	10	2	0	3	0	2	0	2	2	5	1	4	3	3	2	0	3	3	3	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr1:221913036G>A	ENST00000366899.3	-	2	289	c.51C>T	c.(49-51)ccC>ccT	p.P17P	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	17					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GAGGTCGGACGGGCCTAGATA	0.517													33	76					0	0	0	0	A	221913036	G	A	221913036	2	1	200	1	0	0	0	0	0	0	0	1	4846	1103	39	1		1	DUSP10	1	221913036	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	23227208	221913036	27337585	12	35717											
C2orf44	80304	broad.mit.edu	37	chr2	24261267	24261267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagatggaatgacagagtaGatcaaaattatattacaagt	19	10	9	3	0	1	4	1	1	0	3	1	6	1	5	0	1	1	1	0	1	9	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:24261267G>C	ENST00000295148.4	-	2	1155	c.1098C>G	c.(1096-1098)atC>atG	p.I366M	C2orf44_ENST00000406895.3_Missense_Mutation_p.I366M	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	366							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACAGAGTAGATCAAAATTA	0.393			T	ALK	NSCLC								20	65					0	0	0	0	C	24261267	G	C	24261267	3	2	200	1	0	0	0	0	1	0	0	0	2188	932	33	2	1079	2	C2orf44	2	24261267	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08		24261267	218938106	13	35718			1	54		3	3	481	G		2.055854e-06
C2orf44	80304	broad.mit.edu	37	chr2	24261335	24261335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaagattaaatgctatcaGatcaggaaccagaatgcctg	15	11	8	7	0	2	3	2	0	0	3	2	4	2	4	2	1	3	1	2	1	6	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:24261335G>A	ENST00000295148.4	-	2	1087	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L	C2orf44_ENST00000406895.3_Silent_p.L344L	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	344							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGCTATCAGATCAGGAACC	0.413			T	ALK	NSCLC								16	44					0	0	0	0	A	24261335	G	A	24261335	2	1	200	1	0	0	0	0	0	0	0	1	2188	933	33	2		2	C2orf44	2	24261335	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	68	24261335	218938038	14	35719			1	54		3	3	481	G		2.055854e-06
C2orf44	80304	broad.mit.edu	37	chr2	24261747	24261747	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagttgctgtgatggagcaGacgtggctgtccacatcaaa	11	9	12	9	1	1	2	1	1	0	1	2	3	2	3	1	2	2	4	1	2	1	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:24261747G>C	ENST00000295148.4	-	2	675	c.618C>G	c.(616-618)gtC>gtG	p.V206V	C2orf44_ENST00000406895.3_Silent_p.V206V	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	206							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGGAGCAGACGTGGCTGT	0.488			T	ALK	NSCLC								15	47					0	0	0	0	C	24261747	G	C	24261747	2	2	200	1	0	0	0	0	0	0	0	1	2188	929	33	2		2	C2orf44	2	24261747	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	412	24261747	218937626	15	35720			1	54		3	3	481	G		2.055854e-06
ALK	238	broad.mit.edu	37	chr2	29443686	29443686	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaatgcagcgaacaatgttCtggtggttgaatttgctgca	10	12	11	8	1	1	1	0	1	1	0	1	2	1	1	1	2	5	5	1	2	4	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:29443686C>G	ENST00000389048.3	-	23	4437	c.3531G>C	c.(3529-3531)caG>caC	p.Q1177H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1177	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GAACAATGTTCTGGTGGTTGA	0.517			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				13	28					0	0	0	0	G	29443686	C	G	29443686	3	3	200	1	0	0	0	0	1	0	0	0	525	912	32	2	1359	2	ALK	2	29443686	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	5181939	29443686	213755687	16	35721											
SMEK2	57223	broad.mit.edu	37	chr2	55812192	55812192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcattattacttacgtcatCactctgctgagcttcttgca	9	15	6	11	1	4	1	2	1	2	0	4	1	4	1	0	0	6	4	0	0	3	5			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:55812192C>T	ENST00000272313.5	-	7	1555	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	SMEK2_ENST00000407823.3_Missense_Mutation_p.D410N|SMEK2_ENST00000345102.5_Missense_Mutation_p.D410N	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	410						microtubule organizing center|nucleus	protein binding	p.D410N(1)		kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTTACGTCATCACTCTGCTGA	0.348													15	48					0	0	0	0	T	55812192	C	T	55812192	3	4	200	1	0	0	0	0	1	0	0	0	14882	826	29	2	1365	2	SMEK2	2	55812192	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	26368506	55812192	187387181	17	35722											
TMEM131	23505	broad.mit.edu	37	chr2	98408979	98408979	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtcctcggaactgtgcctCgcgctgctggcacgttctgg	4	10	14	13	4	1	0	0	0	1	0	4	2	2	1	2	3	3	4	2	3	1	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:98408979C>T	ENST00000186436.5	-	31	4242	c.4014G>A	c.(4012-4014)gcG>gcA	p.A1338A		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1338						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AACTGTGCCTCGCGCTGCTGG	0.622													5	22					0	0	0	0	T	98408979	C	T	98408979	2	4	200	1	0	0	0	0	0	0	0	1	16138	871	31	1		1	TMEM131	2	98408979	Silent	SNP	C	TCGA-CR-7373-01A-11D-2012-08	42596787	98408979	144790394	18	35723											
COL5A2	1290	broad.mit.edu	37	chr2	189953461	189953461	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacttgactcccaagtccaGatttttcatccaacccagcc	10	11	4	16	0	1	2	1	1	0	1	4	2	4	2	5	0	3	0	5	0	3	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:189953461G>C	ENST00000374866.3	-	8	879	c.605C>G	c.(604-606)tCt>tGt	p.S202C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	202					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCAAGTCCAGATTTTTCATC	0.353													18	49					0	0	0	0	C	189953461	G	C	189953461	3	2	200	1	0	0	0	0	1	0	0	0	3727	942	33	2	4082	2	COL5A2	2	189953461	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	91544482	189953461	53245912	19	35724											
SP140	11262	broad.mit.edu	37	chr2	231112687	231112687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catacagcacagcaccagggGagaaacagggagaggaggaa	17	1	15	8	0	0	2	0	0	0	2	0	6	0	4	1	5	4	2	1	5	3	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr2:231112687G>A	ENST00000392045.3	+	8	913	c.799G>A	c.(799-801)Gag>Aag	p.E267K	SP140_ENST00000343805.6_Missense_Mutation_p.E241K|SP140_ENST00000420434.3_Missense_Mutation_p.E267K|SP140_ENST00000350136.5_Intron|SP140_ENST00000486687.2_Intron|SP140_ENST00000417495.3_Intron	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	267					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGCACCAGGGGAGAAACAGGG	0.473													46	38					0	0	0	0	A	231112687	G	A	231112687	3	1	200	1	0	0	0	0	1	0	0	0	15050	1175	41	2	946	2	SP140	2	231112687	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	41159226	231112687	12086686	20	35725											
PRRT3	285368	broad.mit.edu	37	chr3	9989488	9989488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagggggccccagcgtagcgGgggtgcagtggcgttggctg	5	6	21	9	3	0	0	0	0	0	0	0	0	0	0	2	6	3	4	2	6	2	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr3:9989488G>A	ENST00000412055.1	-	4	1498	c.1369C>T	c.(1369-1371)Ccg>Tcg	p.P457S	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	457	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CAGCGTAGCGGGGGTGCAGTG	0.716													3	5					0	0	0	0	A	9989488	G	A	9989488	3	1	200	1	0	0	0	0	1	0	0	0	12690	1232	43	4	1580	4	PRRT3	3	9989488	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08		9989488	188032942	21	35726											
ZNF621	285268	broad.mit.edu	37	chr3	40570902	40570902	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggccctgtacggggaggtGatgctggagaattatgcaaa	11	8	16	6	1	0	2	0	1	0	1	0	4	0	3	1	5	3	3	1	5	4	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr3:40570902G>A	ENST00000339296.5	+	3	569	c.117G>A	c.(115-117)gtG>gtA	p.V39V	ZNF621_ENST00000431278.1_Intron|ZNF621_ENST00000403205.2_Silent_p.V39V|ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000310898.1_Silent_p.V39V	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		ACGGGGAGGTGATGCTGGAGA	0.517													57	85					0	0	0	0	A	40570902	G	A	40570902	2	1	200	1	0	0	0	0	0	0	0	1	18140	1277	45	2		2	ZNF621	3	40570902	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	30581414	40570902	157451528	22	35727											
CLDND1	56650	broad.mit.edu	37	chr3	98240146	98240146	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttattcaaatcactggaattTtcttgaactggacttcgata	12	16	6	7	1	3	1	2	1	1	0	4	4	3	3	0	2	1	0	0	2	5	7			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr3:98240146T>G	ENST00000503004.1	-	2	1002	c.123A>C	c.(121-123)gaA>gaC	p.E41D	CLDND1_ENST00000507874.1_Missense_Mutation_p.E41D|CLDND1_ENST00000394185.2_Missense_Mutation_p.E41D|CLDND1_ENST00000341181.6_Missense_Mutation_p.E41D|CLDND1_ENST00000513287.1_Missense_Mutation_p.E41D|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.E64D|CLDND1_ENST00000394180.2_Missense_Mutation_p.E41D|CLDND1_ENST00000510545.1_Missense_Mutation_p.E41D|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000394181.2_Missense_Mutation_p.E41D			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	41						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						CACTGGAATTTTCTTGAACTG	0.393													15	46					0	0	0	0	G	98240146	T	G	98240146	3	3	200	1	0	0	0	0	1	0	0	0	3523	1838	64	5	654	5	CLDND1	3	98240146	Missense_Mutation	SNP	T	TCGA-CR-7373-01A-11D-2012-08	57669244	98240146	99782284	23	35728											
ARGFX	503582	broad.mit.edu	37	chr3	121303817	121303817	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcacccaccaacagtatgagGagctagaagctctgtttagc	12	9	9	11	0	2	2	1	1	1	1	2	3	2	3	2	1	4	4	2	1	5	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr3:121303817G>C	ENST00000334384.3	+	3	284	c.274G>C	c.(274-276)Gag>Cag	p.E92Q		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	92						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		ACAGTATGAGGAGCTAGAAGC	0.443													30	116					0	0	0	0	C	121303817	G	C	121303817	3	2	200	1	0	0	0	0	1	0	0	0	861	1175	41	2	284	2	ARGFX	3	121303817	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	23063671	121303817	76718613	24	35729											
MYLK	4638	broad.mit.edu	37	chr3	123383036	123383036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgcagtgctcctggcGcgcggccaggatggtgagct	5	6	17	13	4	0	1	0	1	0	0	1	2	1	2	3	4	3	4	3	4	0	0			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr3:123383036G>A	ENST00000360772.3	-	24	4279	c.3901C>T	c.(3901-3903)Cgc>Tgc	p.R1301C	MYLK_ENST00000354792.5_Missense_Mutation_p.R101C|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301C|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301C|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232C|MYLK_ENST00000475616.1_Missense_Mutation_p.R1301C			Q15746	MYLK_HUMAN	myosin light chain kinase	1301	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCTCCTGGCGCGCGGCCAGG	0.627													51	171					0	0	0	0	A	123383036	G	A	123383036	3	1	200	1	0	0	0	0	1	0	0	0	10126	1087	38	1	1891	1	MYLK	3	123383036	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	2079219	123383036	74639394	25	35730											
TRPC1	7220	broad.mit.edu	37	chr3	142523281	142523281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgccttttatatagaatCatgaagacaaagaatggaag	17	12	8	4	0	1	4	1	1	0	3	1	5	1	5	1	1	1	0	1	1	8	5			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr3:142523281C>T	ENST00000273482.6	+	11	2252	c.1861C>T	c.(1861-1863)Cat>Tat	p.H621Y	TRPC1_ENST00000476941.1_Missense_Mutation_p.H655Y	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	655					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TATATAGAATCATGAAGACAA	0.348													14	22					0	0	0	0	T	142523281	C	T	142523281	3	4	200	1	0	0	0	0	1	0	0	0	16673	826	29	2	1903	2	TRPC1	3	142523281	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	19140245	142523281	55499149	26	35731											
MECOM	2122	broad.mit.edu	37	chr3	168834351	168834351	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccttggccaaaaaatcCacctgccgcaaaatggttct	13	9	7	12	1	1	0	0	0	1	0	2	0	2	0	5	2	2	2	5	2	6	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr3:168834351C>A	ENST00000464456.1	-	7	1945	c.745G>T	c.(745-747)Gga>Tga	p.G249*	MECOM_ENST00000392736.3_Nonsense_Mutation_p.G249*|MECOM_ENST00000264674.3_Nonsense_Mutation_p.G314*|MECOM_ENST00000460814.1_Nonsense_Mutation_p.G249*|MECOM_ENST00000433243.2_Nonsense_Mutation_p.G250*|MECOM_ENST00000468789.1_Nonsense_Mutation_p.G249*|MECOM_ENST00000472280.1_Nonsense_Mutation_p.G250*|MECOM_ENST00000494292.1_Nonsense_Mutation_p.G437*	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCAAAAAATCCACCTGCCGCA	0.453													18	59					1.2644e-06	1.70865e-06	1	0	A	168834351	C	A	168834351	4	1	200	1	0	0	0	0	0	1	0	0	9491	603	21	4	2450	4	MECOM	3	168834351	Nonsense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	26311070	168834351	29188079	27	35732											
MYNN	55892	broad.mit.edu	37	chr3	169496734	169496734	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgtcttcttactctgcgaGattataataatcgagagaaa	13	14	7	7	2	3	2	0	0	3	2	4	5	3	2	0	0	2	0	0	0	5	6			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr3:169496734G>C	ENST00000349841.5	+	3	1108	c.445G>C	c.(445-447)Gat>Cat	p.D149H	MYNN_ENST00000544106.1_Missense_Mutation_p.D149H|MYNN_ENST00000356716.4_Missense_Mutation_p.D149H|MYNN_ENST00000392733.1_Missense_Mutation_p.D149H|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	149						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TACTCTGCGAGATTATAATAA	0.343													21	36					0	0	0	0	C	169496734	G	C	169496734	3	2	200	1	0	0	0	0	1	0	0	0	10131	942	33	2	451	2	MYNN	3	169496734	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	662383	169496734	28525696	28	35733											
SRD5A3	79644	broad.mit.edu	37	chr4	56230347	56230347	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtcttctccaatgtcatGattcacgtcgtgcagtactg	8	14	9	10	2	4	1	2	1	2	0	6	1	4	1	1	0	2	2	1	0	2	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr4:56230347G>C	ENST00000264228.4	+	3	699	c.471G>C	c.(469-471)atG>atC	p.M157I	SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000433175.2_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	157					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			CCAATGTCATGATTCACGTCG	0.483													16	72					0	0	0	0	C	56230347	G	C	56230347	3	2	200	1	0	0	0	0	1	0	0	0	15230	1290	45	2	481	2	SRD5A3	4	56230347	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08		56230347	134923929	29	35734											
MAP1B	4131	broad.mit.edu	37	chr5	71491499	71491499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaaagattctgttgctGccggaaagccaaaggagaag	15	7	12	7	1	2	3	1	0	1	3	2	5	2	4	2	2	3	2	2	2	5	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr5:71491499G>A	ENST00000296755.7	+	5	2615	c.2317G>A	c.(2317-2319)Gcc>Acc	p.A773T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	773	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTCTGTTGCTGCCGGAAAGCC	0.473													37	124					0	0	0	0	A	71491499	G	A	71491499	3	1	200	1	0	0	0	0	1	0	0	0	9297	1319	46	4	2335	4	MAP1B	5	71491499	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08		71491499	109423761	30	35735											
VCAN	1462	broad.mit.edu	37	chr5	82808041	82808041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcggcatggaggaacGgctttgaccagtgcgattac	9	8	14	10	3	0	1	0	1	0	0	1	4	1	3	2	5	3	2	2	5	2	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr5:82808041G>A	ENST00000265077.3	+	6	1433	c.868G>A	c.(868-870)Ggc>Agc	p.G290S	VCAN_ENST00000342785.4_Missense_Mutation_p.G290S|VCAN_ENST00000513984.1_Missense_Mutation_p.G290S|VCAN_ENST00000512590.2_Missense_Mutation_p.G242S|VCAN_ENST00000502527.2_Missense_Mutation_p.G290S|VCAN_ENST00000343200.5_Missense_Mutation_p.G290S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	290	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.G290S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATGGAGGAACGGCTTTGACCA	0.602													15	26					0	0	0	0	A	82808041	G	A	82808041	3	1	200	1	0	0	0	0	1	0	0	0	17234	1116	39	1	886	1	VCAN	5	82808041	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	11316542	82808041	98107219	31	35736											
SEC24A	10802	broad.mit.edu	37	chr5	134007526	134007526	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaaataccaataacggatCtatggtggtccacagtagtt	14	11	8	8	1	2	0	1	0	1	0	3	1	3	1	2	3	2	2	2	3	6	5			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr5:134007526C>G	ENST00000398844.2	+	4	1055	c.767C>G	c.(766-768)tCt>tGt	p.S256C	SEC24A_ENST00000322887.4_Missense_Mutation_p.S256C	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	256					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.S256F(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATAACGGATCTATGGTGGTC	0.308													12	27					0	0	0	0	G	134007526	C	G	134007526	3	3	200	1	0	0	0	0	1	0	0	0	14081	913	32	2	781	2	SEC24A	5	134007526	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	51199485	134007526	46907734	32	35737											
PCDHA5	56143	broad.mit.edu	37	chr5	140203521	140203521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgtacaccgcgctgCggtgctcggcgcagcccacc	4	7	13	17	5	0	0	0	0	0	0	1	0	0	0	3	2	6	6	3	2	1	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr5:140203521C>T	ENST00000529859.1	+	1	2161	c.2161C>T	c.(2161-2163)Cgg>Tgg	p.R721W	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R721W|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R721W|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGCGCTGCGGTGCTCGGC	0.667													33	69					0	0	0	0	T	140203521	C	T	140203521	3	4	200	1	0	0	0	0	1	0	0	0	11598	759	27	1	2163	1	PCDHA5	5	140203521	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	6195995	140203521	40711739	33	35738											
PCDHGA4	56111	broad.mit.edu	37	chr5	140735144	140735144	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaggtggaaataatcgatgTtaatgataacccacccagtt	15	10	9	7	1	0	2	0	1	0	1	1	4	0	3	2	2	1	2	2	2	4	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr5:140735144T>C	ENST00000571252.1	+	1	377	c.377T>C	c.(376-378)gTt>gCt	p.V126A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATCGATGTTAATGATAAC	0.423													19	36					0	0	0	0	C	140735144	T	C	140735144	3	2	200	1	0	0	0	0	1	0	0	0	11627	1725	60	5	379	5	PCDHGA4	5	140735144	Missense_Mutation	SNP	T	TCGA-CR-7373-01A-11D-2012-08	531623	140735144	40180116	34	35739											
TCOF1	6949	broad.mit.edu	37	chr5	149754239	149754239	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcccctgccaaggagtcCcccaggaaaggagctgcccc	9	4	11	17	0	1	0	1	0	0	0	2	3	2	3	7	3	4	1	7	3	2	0			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr5:149754239C>A	ENST00000451292.1	+	9	1251	c.1143C>A	c.(1141-1143)tcC>tcA	p.S381S	TCOF1_ENST00000377797.3_Silent_p.S381S|TCOF1_ENST00000439160.2_Silent_p.S381S|TCOF1_ENST00000394269.3_Silent_p.S381S|TCOF1_ENST00000323668.7_Silent_p.S304S|TCOF1_ENST00000445265.2_Silent_p.S304S|TCOF1_ENST00000513346.1_Silent_p.S381S|TCOF1_ENST00000504761.2_Silent_p.S381S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	381					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAAGGAGTCCCCCAGGAAAG	0.657													20	66					1.2644e-06	1.70865e-06	1	0	A	149754239	C	A	149754239	2	1	200	1	0	0	0	0	0	0	0	1	15802	610	22	4		4	TCOF1	5	149754239	Silent	SNP	C	TCGA-CR-7373-01A-11D-2012-08	9019095	149754239	31161021	35	35740											
MYLK4	340156	broad.mit.edu	37	chr6	2675332	2675332	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgacaaccaggggtgcttGagagcttcgcttgcacttat	8	12	11	10	1	1	2	0	2	1	1	2	3	1	2	1	2	4	4	1	2	2	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:2675332G>C	ENST00000274643.7	-	11	1410	c.1068C>G	c.(1066-1068)ctC>ctG	p.L356L	MYLK4_ENST00000268446.5_Silent_p.L356L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	356	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGGGGTGCTTGAGAGCTTCGC	0.488													25	66					0	0	0	0	C	2675332	G	C	2675332	2	2	200	1	0	0	0	0	0	0	0	1	10129	1277	45	2		2	MYLK4	6	2675332	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08		2675332	168439735	36	35741											
ZNF184	7738	broad.mit.edu	37	chr6	27420303	27420303	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttccataaagtggcctctCtggctaaaggcttttccaca	9	13	8	11	0	1	0	0	0	1	0	4	0	3	0	3	3	0	3	3	3	4	5			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:27420303C>G	ENST00000211936.6	-	6	1319	c.1035G>C	c.(1033-1035)caG>caC	p.Q345H	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q345H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGTGGCCTCTCTGGCTAAAGG	0.423													6	30					0	0	0	0	G	27420303	C	G	27420303	3	3	200	1	0	0	0	0	1	0	0	0	17846	912	32	2	1224	2	ZNF184	6	27420303	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	24744971	27420303	143694764	37	35742											
HLA-A	3105	broad.mit.edu	37	chr6	29910349	29910349	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggccgtcatggcgcccCgaaccctcctcctgctactc	5	8	10	18	3	1	0	1	0	0	0	4	2	3	1	6	3	3	1	6	3	2	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:29910349C>T	ENST00000396634.1	+	3	360	c.19C>T	c.(19-21)Cga>Tga	p.R7*	HLA-A_ENST00000376809.5_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.R7*			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	7					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CATGGCGCCCCGAACCCTCCT	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			17	65					0	0	0	0	T	29910349	C	T	29910349	4	4	200	1	0	0	0	0	0	1	0	0	7245	644	23	1	21	1	HLA-A	6	29910349	Nonsense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	2490046	29910349	141204718	38	35743											
VPS52	6293	broad.mit.edu	37	chr6	33219368	33219368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactcagagattccactgatGatttccaggaactaccaaag	14	9	8	10	0	1	3	1	2	0	1	3	6	3	4	3	1	2	0	3	1	3	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:33219368G>A	ENST00000445902.2	-	19	2170	c.1952C>T	c.(1951-1953)tCa>tTa	p.S651L	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.S526L|VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000422366.1_RNA|HCG25_ENST00000442228.1_RNA|HCG25_ENST00000427196.1_RNA|HCG25_ENST00000450514.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	651					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCCACTGATGATTTCCAGGA	0.507													30	74					0	0	0	0	A	33219368	G	A	33219368	3	1	200	1	0	0	0	0	1	0	0	0	17310	1294	45	2	227	2	VPS52	6	33219368	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	3309019	33219368	137895699	39	35744											
LRFN2	57497	broad.mit.edu	37	chr6	40359913	40359913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtttggccttgccctccaaCggcaaggggagcaggctcct	6	8	13	14	2	0	0	0	0	0	0	2	1	2	1	4	5	3	4	4	5	2	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:40359913C>T	ENST00000338305.6	-	3	2681	c.2139G>A	c.(2137-2139)ccG>ccA	p.P713P		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	713						cell junction|integral to membrane|postsynaptic membrane		p.P713P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCCCTCCAACGGCAAGGGGA	0.736													5	14					0	0	0	0	T	40359913	C	T	40359913	2	4	200	1	0	0	0	0	0	0	0	1	9002	523	19	1		1	LRFN2	6	40359913	Silent	SNP	C	TCGA-CR-7373-01A-11D-2012-08	7140545	40359913	130755154	40	35745											
NCR2	9436	broad.mit.edu	37	chr6	41318601	41318601	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgatgaacacactttgtGaataataaaattatctgaat	17	14	6	4	0	1	5	0	5	1	0	1	5	1	5	0	0	1	0	0	0	7	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:41318601G>A	ENST00000373089.5	+	5	918	c.830G>A	c.(829-831)tGa>tAa	p.*277*	NCR2_ENST00000373086.3_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	0					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					cacactttgtgaataataaaa	0.393													15	39					0	0	0	0	A	41318601	G	A	41318601	2	1	200	1	0	0	0	0	0	0	0	1	10308	1285	45	2		2	NCR2	6	41318601	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	958688	41318601	129796466	41	35746											
MAN1A1	4121	broad.mit.edu	37	chr6	119501047	119501047	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagggagaagatgtgcctcGctattgaagatccaatgctc	12	10	11	8	1	0	4	0	1	0	3	3	5	1	4	2	1	2	2	2	1	5	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:119501047G>A	ENST00000368468.3	-	13	2340	c.1899C>T	c.(1897-1899)agC>agT	p.S633S		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	633					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GATGTGCCTCGCTATTGAAGA	0.378													9	39					0	0	0	0	A	119501047	G	A	119501047	2	1	200	1	0	0	0	0	0	0	0	1	9279	1078	38	1		1	MAN1A1	6	119501047	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	78182446	119501047	51614020	42	35747											
NCOA7	135112	broad.mit.edu	37	chr6	126203622	126203622	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattgaaagagtcttatcGtctacttctgaagaagatga	13	12	8	8	1	3	6	0	3	3	3	4	6	3	6	1	0	1	0	1	0	5	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:126203622G>A	ENST00000368357.3	+	8	976	c.624G>A	c.(622-624)tcG>tcA	p.S208S	NCOA7_ENST00000392477.2_Silent_p.S208S|NCOA7_ENST00000229634.9_Silent_p.S104S	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	208					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GAGTCTTATCGTCTACTTCTG	0.348													7	39					0	0	0	0	A	126203622	G	A	126203622	2	1	200	1	0	0	0	0	0	0	0	1	10304	1132	40	1		1	NCOA7	6	126203622	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	6702575	126203622	44911445	43	35748											
NCOA7	135112	broad.mit.edu	37	chr6	126210917	126210917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcgggtgatcccataactGagggcaataaagagccagat	14	6	13	8	1	0	4	0	2	0	2	1	4	1	4	2	3	2	1	2	3	4	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:126210917G>A	ENST00000368357.3	+	10	2069	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	NCOA7_ENST00000392477.2_Missense_Mutation_p.E573K|NCOA7_ENST00000229634.9_Missense_Mutation_p.E458K	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	573					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TCCCATAACTGAGGGCAATAA	0.438													13	43					0	0	0	0	A	126210917	G	A	126210917	3	1	200	1	0	0	0	0	1	0	0	0	10304	1291	45	2	1747	2	NCOA7	6	126210917	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	7295	126210917	44904150	44	35749											
SYNE1	23345	broad.mit.edu	37	chr6	152706952	152706952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatgatctttcacaatctCttccactttcctcatttttt	8	20	2	11	0	4	2	2	1	2	1	7	2	6	2	2	0	0	0	2	0	2	7			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:152706952C>T	ENST00000367255.5	-	55	9110	c.8509G>A	c.(8509-8511)Gag>Aag	p.E2837K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E2837K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2844K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2844K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2876K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2837					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCACAATCTCTTCCACTTTC	0.408										HNSCC(10;0.0054)			19	79					0	0	0	0	T	152706952	C	T	152706952	3	4	200	1	0	0	0	0	1	0	0	0	15536	922	32	2	18325	2	SYNE1	6	152706952	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	26496035	152706952	18408115	45	35750											
QKI	9444	broad.mit.edu	37	chr6	163876442	163876442	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactttatgtgcctgtaaaaGaatacccagatgtaagtata	16	12	7	6	0	0	2	0	0	0	2	0	2	0	2	2	0	3	3	2	0	9	7			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr6:163876442G>C	ENST00000361752.3	+	2	825	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	QKI_ENST00000392127.2_Missense_Mutation_p.E92Q|QKI_ENST00000361195.2_Missense_Mutation_p.E92Q|QKI_ENST00000275262.7_Missense_Mutation_p.E92Q|QKI_ENST00000453779.2_Missense_Mutation_p.E92Q|QKI_ENST00000424802.3_Missense_Mutation_p.E92Q	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	92	KH.				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCCTGTAAAAGAATACCCAGA	0.343													24	54					0	0	0	0	C	163876442	G	C	163876442	3	2	200	1	0	0	0	0	1	0	0	0	12955	943	33	2	280	2	QKI	6	163876442	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	11169490	163876442	7238625	46	35751											
DGKB	1607	broad.mit.edu	37	chr7	14378224	14378224	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctattcgtcgatggcttcGtcttttcttagactctcccc	4	17	6	14	3	4	1	0	0	4	1	8	2	4	1	2	1	0	1	2	1	2	6			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr7:14378224G>A	ENST00000403951.2	-	23	2460	c.2041C>T	c.(2041-2043)Cga>Tga	p.R681*	DGKB_ENST00000258767.5_Nonsense_Mutation_p.R681*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.R681*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.R681*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.R680*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R662*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Nonsense_Mutation_p.R673*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	681					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.R681*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CGATGGCTTCGTCTTTTCTTA	0.398													30	68					0	0	0	0	A	14378224	G	A	14378224	4	1	200	1	0	0	0	0	0	1	0	0	4503	1153	40	1	404	1	DGKB	7	14378224	Nonsense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08		14378224	144760439	47	35752											
GRM3	2913	broad.mit.edu	37	chr7	86468769	86468769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgcattgcgccgactcGggctggggagttccttcgct	3	12	14	12	4	1	0	0	0	1	0	4	2	2	1	2	3	2	4	2	3	0	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr7:86468769G>A	ENST00000361669.2	+	4	3038	c.1939G>A	c.(1939-1941)Ggg>Agg	p.G647R	GRM3_ENST00000546348.1_Missense_Mutation_p.G239R|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.G519R|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	647					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCGCCGACTCGGGCTGGGGAG	0.527													53	136					0	0	0	0	A	86468769	G	A	86468769	3	1	200	1	0	0	0	0	1	0	0	0	6848	1116	39	1	1949	1	GRM3	7	86468769	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	72090545	86468769	72669894	48	35753											
ZNF789	285989	broad.mit.edu	37	chr7	99084583	99084583	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacggtccataaacagtgTcacctgcaaaacaagccata	15	8	6	12	1	1	0	1	0	0	0	2	0	2	0	3	1	5	1	3	1	7	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr7:99084583T>G	ENST00000331410.5	+	5	1020	c.750T>G	c.(748-750)tgT>tgG	p.C250W	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATAAACAGTGTCACCTGCAAA	0.428													27	67					0	0	0	0	G	99084583	T	G	99084583	3	3	200	1	0	0	0	0	1	0	0	0	18253	1673	58	5	806	5	ZNF789	7	99084583	Missense_Mutation	SNP	T	TCGA-CR-7373-01A-11D-2012-08	12615814	99084583	60054080	49	35754											
WASL	8976	broad.mit.edu	37	chr7	123346798	123346798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaaaatatgacttacatctCcagcaaaggtatgaaaatat	19	10	6	6	0	1	2	0	2	1	0	2	3	1	2	1	1	2	2	1	1	9	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr7:123346798C>T	ENST00000223023.4	-	3	667	c.335G>A	c.(334-336)gGa>gAa	p.G112E		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	112	WH1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTTACATCTCCAGCAAAGGT	0.284													18	38					0	0	0	0	T	123346798	C	T	123346798	3	4	200	1	0	0	0	0	1	0	0	0	17352	855	30	2	1218	2	WASL	7	123346798	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	24262215	123346798	35791865	50	35755											
TMEM140	55281	broad.mit.edu	37	chr7	134849458	134849458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccaggcttggcgtgtacGggtccctggtcctcaccctc	3	10	13	15	2	1	0	1	0	0	0	4	0	3	0	4	5	1	2	4	5	1	2	rs143180494	by1000genomes	TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr7:134849458G>A	ENST00000275767.2	+	2	488	c.265G>A	c.(265-267)Ggg>Agg	p.G89R	C7orf49_ENST00000459937.1_Intron	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	89						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						TGGCGTGTACGGGTCCCTGGT	0.652													38	69					0	0	0	0	A	134849458	G	A	134849458	3	1	200	1	0	0	0	0	1	0	0	0	16149	1116	39	1	267	1	TMEM140	7	134849458	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	11502660	134849458	24289205	51	35756											
TAF2	6873	broad.mit.edu	37	chr8	120818639	120818639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaaaaataattgaggtttCtcctggggaaaaaaaagagc	17	9	11	4	0	1	2	0	1	1	1	2	4	1	4	1	4	1	1	1	4	7	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr8:120818639C>T	ENST00000378164.2	-	4	600	c.302G>A	c.(301-303)aGa>aAa	p.R101K		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	101					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTGAGGTTTCTCCTGGGGAA	0.348													18	64					0	0	0	0	T	120818639	C	T	120818639	3	4	200	1	0	0	0	0	1	0	0	0	15615	913	32	2	3389	2	TAF2	8	120818639	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08		120818639	25545383	52	35757											
ZC3H3	23144	broad.mit.edu	37	chr8	144557590	144557590	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcaggaggggcctgctGcccgcatcactgggctggcc	4	6	17	14	2	1	0	1	0	0	0	1	1	1	1	3	5	3	4	3	5	0	0			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr8:144557590G>T	ENST00000262577.5	-	5	1912	c.1881C>A	c.(1879-1881)ggC>ggA	p.G627G		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	627					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGGGCCTGCTGCCCGCATCAC	0.657													13	37					4.36969e-10	6.06901e-10	1	0	T	144557590	G	T	144557590	2	4	200	1	0	0	0	0	0	0	0	1	17664	1306	46	4		4	ZC3H3	8	144557590	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	23738951	144557590	1806432	53	35758											
TAF1L	138474	broad.mit.edu	37	chr9	32635389	32635389	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccccaagcctgccaagtgCttcttacactcatcatccaa	10	9	5	17	0	3	0	2	0	1	0	4	0	4	0	5	0	4	1	5	0	4	2	rs55895024	byFrequency	TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:32635389C>T	ENST00000242310.4	-	1	278	c.189G>A	c.(187-189)aaG>aaA	p.K63K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	63					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGCCAAGTGCTTCTTACACT	0.547													35	134					0	0	0	0	T	32635389	C	T	32635389	2	4	200	1	0	0	0	0	0	0	0	1	15614	796	28	4		4	TAF1L	9	32635389	Silent	SNP	C	TCGA-CR-7373-01A-11D-2012-08		32635389	108578042	54	35759											
UBE2R2	54926	broad.mit.edu	37	chr9	33917126	33917126	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttccaatgacaacagctCagatttgctttacgacgact	11	11	7	12	2	1	2	1	1	0	1	2	4	2	2	2	0	4	2	2	0	3	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:33917126C>G	ENST00000263228.3	+	5	799	c.608C>G	c.(607-609)tCa>tGa	p.S203*		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	203	Asp/Glu-rich (acidic).				protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		GACAACAGCTCAGATTTGCTT	0.463													8	66					0	0	0	0	G	33917126	C	G	33917126	4	3	200	1	0	0	0	0	0	1	0	0	16967	838	29	2	626	2	UBE2R2	9	33917126	Nonsense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	1281737	33917126	107296305	55	35760											
ARID3C	138715	broad.mit.edu	37	chr9	34623560	34623560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgggtcctgagcgccccGagggggcggccctgccaagc	4	4	18	15	3	0	1	0	1	0	0	1	2	1	1	5	5	3	1	5	5	1	0			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:34623560G>A	ENST00000378909.2	-	4	819	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	243	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TGAGCGCCCCGAGGGGGCGGC	0.746													7	42					0	0	0	0	A	34623560	G	A	34623560	3	1	200	1	0	0	0	0	1	0	0	0	920	1057	37	1	526	1	ARID3C	9	34623560	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	706434	34623560	106589871	56	35761											
TLN1	7094	broad.mit.edu	37	chr9	35715166	35715166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgctgctcctcactgtCagggtgggcagctgctccct	3	11	12	15	0	2	0	2	0	0	0	4	0	4	0	2	2	5	6	2	2	0	0			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:35715166C>T	ENST00000314888.9	-	21	2997	c.2644G>A	c.(2644-2646)Gac>Aac	p.D882N	TLN1_ENST00000540444.1_Missense_Mutation_p.D882N	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	882					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTCACTGTCAGGGTGGGCA	0.592													10	93					0	0	0	0	T	35715166	C	T	35715166	3	4	200	1	0	0	0	0	1	0	0	0	16041	826	29	2	5129	2	TLN1	9	35715166	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	1091606	35715166	105498265	57	35762											
C9orf135	138255	broad.mit.edu	37	chr9	72471558	72471558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagcaaggctttattgaatGaggaaacagtgagctccggg	13	8	14	6	1	0	4	0	3	0	1	1	5	1	5	1	3	3	3	1	3	4	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:72471558G>A	ENST00000377197.3	+	3	436	c.349G>A	c.(349-351)Gag>Aag	p.E117K	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.E117K	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	117						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTTATTGAATGAGGAAACAGT	0.348													8	69					0	0	0	0	A	72471558	G	A	72471558	3	1	200	1	0	0	0	0	1	0	0	0	2483	1291	45	2	359	2	C9orf135	9	72471558	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	36756392	72471558	68741873	58	35763											
IARS	3376	broad.mit.edu	37	chr9	95043130	95043130	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactaaagatacagtttcatCttcttccaaagggaaagtta	16	12	6	7	0	3	1	1	0	2	1	4	2	4	2	1	1	2	2	1	1	7	6			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:95043130C>G	ENST00000375643.3	-	7	909	c.643G>C	c.(643-645)Gat>Cat	p.D215H	IARS_ENST00000443024.2_Missense_Mutation_p.D215H|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.D105H	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	215					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACAGTTTCATCTTCTTCCAAA	0.353													4	52					0	0	0	0	G	95043130	C	G	95043130	3	3	200	1	0	0	0	0	1	0	0	0	7526	913	32	2	3257	2	IARS	9	95043130	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	22571572	95043130	46170301	59	35764											
C5	727	broad.mit.edu	37	chr9	123731393	123731393	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttccgtagcctctgtagtggGatgctggcacataagacaag	10	10	12	9	1	1	1	0	0	1	1	2	2	2	2	2	2	2	4	2	2	4	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:123731393G>C	ENST00000223642.1	-	33	4195	c.4166C>G	c.(4165-4167)tCc>tGc	p.S1389C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1389					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCTGTAGTGGGATGCTGGCAC	0.413													15	106					0	0	0	0	C	123731393	G	C	123731393	3	2	200	1	0	0	0	0	1	0	0	0	2301	1174	41	2	900	2	C5	9	123731393	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	28688263	123731393	17482038	60	35765											
TTLL11	158135	broad.mit.edu	37	chr9	124751422	124751422	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacgaagccagagagcccTcttgaggccggtcaaggctg	10	6	13	12	2	2	2	1	1	1	1	2	4	2	2	3	3	3	1	3	3	3	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:124751422T>A	ENST00000373776.3	-	4	1778	c.1591A>T	c.(1591-1593)Agg>Tgg	p.R531W	TTLL11_ENST00000321582.5_Intron|TTLL11_ENST00000474723.1_Intron	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	531	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CAGAGAGCCCTCTTGAGGCCG	0.627													29	113					0	0	0	0	A	124751422	T	A	124751422	3	1	200	1	0	0	0	0	1	0	0	0	16820	1550	54	5	913	5	TTLL11	9	124751422	Missense_Mutation	SNP	T	TCGA-CR-7373-01A-11D-2012-08	1020029	124751422	16462009	61	35766											
LRSAM1	90678	broad.mit.edu	37	chr9	130257620	130257620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggagttagaagccaaaagtGaaaccaggcaggaaaattac	18	5	11	7	1	0	2	0	1	0	1	0	4	0	4	2	3	3	2	2	3	8	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:130257620G>A	ENST00000323301.4	+	21	2225	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	LRSAM1_ENST00000300417.6_Missense_Mutation_p.E541K|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E541K|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E514K|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	541					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGCCAAAAGTGAAACCAGGCA	0.468													8	46					0	0	0	0	A	130257620	G	A	130257620	3	1	200	1	0	0	0	0	1	0	0	0	9107	1291	45	2	1699	2	LRSAM1	9	130257620	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	5506198	130257620	10955811	62	35767											
AK1	203	broad.mit.edu	37	chr9	130630646	130630646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggcgatgacaggttctGtggccttgtaataggtctcc	9	11	13	8	1	2	2	0	1	2	1	3	3	2	2	2	4	0	2	2	4	3	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:130630646G>A	ENST00000373176.1	-	6	622	c.470C>T	c.(469-471)aCa>aTa	p.T157I	AK1_ENST00000223836.10_Missense_Mutation_p.T173I|RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Missense_Mutation_p.T157I	NM_000476.2	NP_000467.1	P00568	KAD1_HUMAN	adenylate kinase 1	157					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding			endometrium(1)|prostate(1)	2						GACAGGTTCTGTGGCCTTGTA	0.592													10	17					0	0	0	0	A	130630646	G	A	130630646	3	1	200	1	0	0	0	0	1	0	0	0	439	1377	48	4	122	4	AK1	9	130630646	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	373026	130630646	10582785	63	35768											
FAM69B	138311	broad.mit.edu	37	chr9	139617956	139617956	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagcaccgactgcacctaCgggcgcgactgcagggcccc	8	3	12	18	4	0	0	0	0	0	0	0	2	0	0	4	2	4	3	4	2	1	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr9:139617956C>T	ENST00000371691.1	+	3	1864	c.765C>T	c.(763-765)taC>taT	p.Y255Y	SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371692.4_Silent_p.Y342Y			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	342						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		ACTGCACCTACGGGCGCGACT	0.687													8	13					0	0	0	0	T	139617956	C	T	139617956	2	4	200	1	0	0	0	0	0	0	0	1	5649	547	19	1		1	FAM69B	9	139617956	Silent	SNP	C	TCGA-CR-7373-01A-11D-2012-08	8987310	139617956	1595475	64	35769											
LYZL2	119180	broad.mit.edu	37	chr10	30900884	30900884	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcctgggtccagttccagtTtaggaaacctcacagtcttt	9	13	8	11	0	2	0	1	0	1	0	5	1	5	1	4	2	1	2	4	2	2	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr10:30900884T>A	ENST00000375318.2	-	5	641	c.585A>T	c.(583-585)taA>taT	p.*195Y		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CAGTTCCAGTTTAGGAAACCT	0.517													81	156					0	0	0	0	A	30900884	T	A	30900884	4	1	200	1	0	0	0	0	0	0	0	0	9197	1848	64	5	3	5	LYZL2	10	30900884	Nonstop_Mutation	SNP	T	TCGA-CR-7373-01A-11D-2012-08		30900884	104633863	65	35770											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508040	37508040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaggaaaataaatactttGaggacattaagattttaaaa	22	11	6	2	0	0	2	0	1	0	1	0	4	0	4	0	2	1	0	0	2	10	6			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr10:37508040G>A	ENST00000374660.1	+	40	3688	c.3589G>A	c.(3589-3591)Gag>Aag	p.E1197K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1078K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1078K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1166						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAAATACTTTGAGGACATTAA	0.338													48	88					0	0	0	0	A	37508040	G	A	37508040	3	1	200	1	0	0	0	0	1	0	0	0	658	1291	45	2	3366	2	ANKRD30A	10	37508040	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	6607156	37508040	98026707	66	35771											
CYP2C8	1558	broad.mit.edu	37	chr10	96818118	96818118	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cattttgatcaggaagcaatCgataaagtcccgaggattgt	13	11	10	7	2	1	1	1	1	0	0	3	5	2	3	1	2	1	1	1	2	4	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr10:96818118C>G	ENST00000371270.3	-	5	887	c.793G>C	c.(793-795)Gat>Cat	p.D265H	CYP2C8_ENST00000539050.1_Missense_Mutation_p.D179H|CYP2C8_ENST00000535898.1_Missense_Mutation_p.D163H	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	265					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	p.D265N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AGGAAGCAATCGATAAAGTCC	0.358													4	58					0	0	0	0	G	96818118	C	G	96818118	3	3	200	1	0	0	0	0	1	0	0	0	4199	884	31	3	699	3	CYP2C8	10	96818118	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	59310078	96818118	38716629	67	35772											
SLIT1	6585	broad.mit.edu	37	chr10	98770859	98770859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggttctcactgcagttgtCacctgcataacctggcatgc	7	12	9	13	0	2	0	2	0	1	0	3	0	2	0	2	2	4	5	2	2	1	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr10:98770859C>T	ENST00000266058.4	-	31	3477	c.3232G>A	c.(3232-3234)Gac>Aac	p.D1078N	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.D1078N	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1078	EGF-like 4.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGCAGTTGTCACCTGCATAA	0.607													5	34					0	0	0	0	T	98770859	C	T	98770859	3	4	200	1	0	0	0	0	1	0	0	0	14827	826	29	2	1400	2	SLIT1	10	98770859	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	1952741	98770859	36763888	68	35773											
CCDC147	159686	broad.mit.edu	37	chr10	106113661	106113661	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagagcatcaggatggcTgaggtcaggagtcagcgccc	10	5	15	11	1	3	2	3	1	0	1	3	5	3	4	2	4	2	2	2	4	0	0			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr10:106113661T>A	ENST00000369704.3	+	1	140	c.6T>A	c.(4-6)gcT>gcA	p.A2A	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	2										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TCAGGATGGCTGAGGTCAGGA	0.597											OREG0020519	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	32					0	0	0	0	A	106113661	T	A	106113661	2	1	200	1	0	0	0	0	0	0	0	1	2806	1567	55	5		5	CCDC147	10	106113661	Silent	SNP	T	TCGA-CR-7373-01A-11D-2012-08	7342802	106113661	29421086	69	35774											
TACC2	10579	broad.mit.edu	37	chr10	123845099	123845099	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatggttgttccccactctgGggcttgagtaagagggagat	8	11	15	7	0	1	3	0	1	1	2	2	5	2	3	2	4	0	4	2	4	1	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr10:123845099G>C	ENST00000369005.1	+	4	3424	c.3084G>C	c.(3082-3084)tgG>tgC	p.W1028C	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.W1028C|TACC2_ENST00000515603.1_Missense_Mutation_p.W1028C|TACC2_ENST00000334433.3_Missense_Mutation_p.W1028C|TACC2_ENST00000515273.1_Missense_Mutation_p.W1028C	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1028						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCCACTCTGGGGCTTGAGTA	0.562													12	41					0	0	0	0	C	123845099	G	C	123845099	3	2	200	1	0	0	0	0	1	0	0	0	15593	1241	43	4	3094	4	TACC2	10	123845099	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	17731438	123845099	11689648	70	35775											
FAM53B	9679	broad.mit.edu	37	chr10	126311927	126311927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctctcctgccacaatcctCgtccagggcgcagctgtctg	5	9	10	17	3	2	0	0	0	2	0	6	0	4	0	4	1	2	3	4	1	1	0	rs140442850	byFrequency	TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr10:126311927C>T	ENST00000337318.3	-	5	1364	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.E385K	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	385										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CCACAATCCTCGTCCAGGGCG	0.682													7	25					0	0	0	0	T	126311927	C	T	126311927	3	4	200	1	0	0	0	0	1	0	0	0	5627	893	31	1	119	1	FAM53B	10	126311927	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	2466828	126311927	9222820	71	35776											
SIRT3	23410	broad.mit.edu	37	chr11	233115	233115	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccttggccaaagtgaaaaAgggcttggggttgtgaaaga	12	9	14	6	0	0	3	0	2	0	1	1	3	1	3	2	4	0	2	2	4	4	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:233115A>G	ENST00000382743.4	-	3	676	c.574T>C	c.(574-576)Ttt>Ctt	p.F192L	SIRT3_ENST00000524564.1_Missense_Mutation_p.F128L|SIRT3_ENST00000529382.1_Missense_Mutation_p.F50L|SIRT3_ENST00000525319.1_Missense_Mutation_p.F111L|SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000532956.1_Missense_Mutation_p.F192L	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	192	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		AAAGTGAAAAAGGGCTTGGGG	0.547													3	61					0	0	0	0	G	233115	A	G	233115	3	3	200	1	0	0	0	0	1	0	0	0	14427	72	3	5	645	5	SIRT3	11	233115	Missense_Mutation	SNP	A	TCGA-CR-7373-01A-11D-2012-08		233115	134773401	72	35777											
MUC5B	727897	broad.mit.edu	37	chr11	1271273	1271273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcctccactccggggaCgacctggatcctcacagagc	7	6	9	19	2	1	1	1	0	0	1	5	4	5	3	7	3	1	0	7	3	0	0			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:1271273C>T	ENST00000447027.1	+	31	13230	c.13172C>T	c.(13171-13173)aCg>aTg	p.T4391M	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4388M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4388	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCGGGGACGACCTGGATC	0.662													55	129					0	0	0	0	T	1271273	C	T	1271273	3	4	200	1	0	0	0	0	1	0	0	0	10049	536	19	1	13294	1	MUC5B	11	1271273	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	1038158	1271273	133735243	73	35778											
OR52H1	390067	broad.mit.edu	37	chr11	5566547	5566547	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggccagcatggagagaaaGaagaacatgggttcatgaag	16	6	14	5	0	1	4	1	1	0	3	1	6	1	5	1	3	2	2	1	3	4	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:5566547G>C	ENST00000322653.4	-	1	232	c.207C>G	c.(205-207)ttC>ttG	p.F69L	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAGAGAAAGAAGAACATGG	0.473													19	55					0	0	0	0	C	5566547	G	C	5566547	3	2	200	1	0	0	0	0	1	0	0	0	11190	933	33	2	758	2	OR52H1	11	5566547	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	4295274	5566547	129439969	74	35779											
OR10A2	341276	broad.mit.edu	37	chr11	6891450	6891450	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctcttcagttttccattCtgtggcaccaacaaggtgaa	9	13	9	10	0	3	1	1	1	2	0	4	1	4	1	2	3	1	3	2	3	3	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:6891450C>T	ENST00000307322.4	+	1	527	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTTTTCCATTCTGTGGCACCA	0.537													33	114					0	0	0	0	T	6891450	C	T	6891450	2	4	200	1	0	0	0	0	0	0	0	1	10961	912	32	2		2	OR10A2	11	6891450	Silent	SNP	C	TCGA-CR-7373-01A-11D-2012-08	1324903	6891450	128115066	75	35780											
SLC1A2	6506	broad.mit.edu	37	chr11	35308446	35308446	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatctagtcacacgcttatCaatccccagattttcttcca	11	13	4	13	1	4	1	2	0	2	1	6	2	6	1	3	0	0	1	3	0	4	5			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:35308446C>G	ENST00000278379.3	-	8	1426	c.1144G>C	c.(1144-1146)Gat>Cat	p.D382H	SLC1A2_ENST00000606205.1_Missense_Mutation_p.D382H|SLC1A2_ENST00000395750.1_Missense_Mutation_p.D373H|SLC1A2_ENST00000395753.1_Missense_Mutation_p.D373H	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	382					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.D382Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ACACGCTTATCAATCCCCAGA	0.458													39	124					0	0	0	0	G	35308446	C	G	35308446	3	3	200	1	0	0	0	0	1	0	0	0	14520	826	29	2	596	2	SLC1A2	11	35308446	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	28416996	35308446	99698070	76	35781											
MS4A2	2206	broad.mit.edu	37	chr11	59857261	59857261	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaccactgcatacatggctGacagttttgaaaaaagagca	15	8	8	10	0	0	3	0	2	0	1	0	3	0	3	2	1	3	4	2	1	4	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:59857261G>A	ENST00000278888.3	+	2	255	c.153G>A	c.(151-153)ctG>ctA	p.L51L		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	51					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	ATACATGGCTGACAGTTTTGA	0.468													23	44					0	0	0	0	A	59857261	G	A	59857261	2	1	200	1	0	0	0	0	0	0	0	1	9930	1277	45	2		2	MS4A2	11	59857261	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	24548815	59857261	75149255	77	35782											
CCDC83	220047	broad.mit.edu	37	chr11	85597249	85597249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttattttcaacagatatgcGcatgcaaataagtaatgctg	14	14	7	6	1	1	1	1	0	0	1	1	1	1	1	0	0	4	4	0	0	6	7			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:85597249G>A	ENST00000280245.4	+	5	862	c.350G>A	c.(349-351)cGc>cAc	p.R117H	CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000342404.3_Missense_Mutation_p.R117H|CCDC83_ENST00000376067.1_Intron	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	117								p.R117H(2)|p.R117L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ACAGATATGCGCATGCAAATA	0.333													6	15					0	0	0	0	A	85597249	G	A	85597249	3	1	200	1	0	0	0	0	1	0	0	0	2884	1087	38	1	364	1	CCDC83	11	85597249	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	25739988	85597249	49409267	78	35783											
GPR83	10888	broad.mit.edu	37	chr11	94134045	94134045	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaaagtgaagggggtgttGagcagcgtgatcattatgtc	11	10	14	6	1	1	3	1	3	0	0	2	3	1	3	1	2	2	2	1	2	3	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:94134045G>C	ENST00000243673.2	-	1	540	c.369C>G	c.(367-369)ctC>ctG	p.L123L	GPR83_ENST00000539203.2_Silent_p.L123L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	123						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.L123L(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGGGGTGTTGAGCAGCGTGA	0.572													12	28					0	0	0	0	C	94134045	G	C	94134045	2	2	200	1	0	0	0	0	0	0	0	1	6762	1277	45	2		2	GPR83	11	94134045	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	8536796	94134045	40872471	79	35784											
ROBO3	64221	broad.mit.edu	37	chr11	124750348	124750348	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatacagcagaccaagcttCctgtcccggggccagggcac	9	5	11	16	1	0	1	0	0	0	1	2	1	2	1	5	3	3	3	5	3	2	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:124750348C>T	ENST00000397801.1	+	27	4185	c.3993C>T	c.(3991-3993)ttC>ttT	p.F1331F	ROBO3_ENST00000538940.1_Silent_p.F1309F|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_Silent_p.F94F	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1331					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)		GACCAAGCTTCCTGTCCCGGG	0.662													10	17					0	0	0	0	T	124750348	C	T	124750348	2	4	200	1	0	0	0	0	0	0	0	1	13600	854	30	2		2	ROBO3	11	124750348	Silent	SNP	C	TCGA-CR-7373-01A-11D-2012-08	30616303	124750348	10256168	80	35785											
ARHGAP32	9743	broad.mit.edu	37	chr11	128838895	128838895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtagcataggtcctgctCtgtggatggggaaagccagg	8	9	16	8	0	1	0	0	0	1	0	2	2	2	2	2	5	3	4	2	5	3	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:128838895C>G	ENST00000310343.9	-	22	6170	c.6171G>C	c.(6169-6171)caG>caC	p.Q2057H	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Q1708H|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Q1708H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2057	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGGTCCTGCTCTGTGGATGGG	0.587													7	25					0	0	0	0	G	128838895	C	G	128838895	3	3	200	1	0	0	0	0	1	0	0	0	883	912	32	2	96	2	ARHGAP32	11	128838895	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	4088547	128838895	6167621	81	35786											
IGSF9B	22997	broad.mit.edu	37	chr11	133792107	133792107	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctgcagtgggtgatggaGagtggagggtctggaaggaa	9	9	19	4	0	1	2	0	1	1	1	2	6	2	5	1	6	1	1	1	6	2	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr11:133792107G>C	ENST00000321016.8	-	17	2522	c.2292C>G	c.(2290-2292)ctC>ctG	p.L764L	IGSF9B_ENST00000533871.2_Silent_p.L764L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	764						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGTGATGGAGAGTGGAGGGT	0.602													4	16					0	0	0	0	C	133792107	G	C	133792107	2	2	200	1	0	0	0	0	0	0	0	1	7659	929	33	2		2	IGSF9B	11	133792107	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	4953212	133792107	1214409	82	35787											
CCND2	894	broad.mit.edu	37	chr12	4409145	4409145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaactggaccaagccagcacCcctacagacgtgcgggatat	12	5	11	13	2	0	1	0	0	0	1	0	4	0	3	4	2	5	1	4	2	4	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr12:4409145C>T	ENST00000261254.3	+	5	1109	c.840C>T	c.(838-840)acC>acT	p.T280T		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	280					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			AAGCCAGCACCCCTACAGACG	0.547			T	IGL@	"NHL,CLL"								3	29					0	0	0	0	T	4409145	C	T	4409145	2	4	200	1	0	0	0	0	0	0	0	1	2946	610	22	4		4	CCND2	12	4409145	Silent	SNP	C	TCGA-CR-7373-01A-11D-2012-08		4409145	129442750	83	35788											
GRIN2B	2904	broad.mit.edu	37	chr12	13722780	13722780	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatctccaaagagctgCaggatagcaaggtccacctg	12	7	9	13	0	2	1	1	0	1	1	4	2	3	2	4	2	3	3	4	2	3	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr12:13722780C>A	ENST00000279593.3	-	11	2552	c.2343G>T	c.(2341-2343)ctG>ctT	p.L781L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	781					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAAAGAGCTGCAGGATAGCAA	0.488													18	46					1.33834e-09	1.84598e-09	1	0	A	13722780	C	A	13722780	2	1	200	1	0	0	0	0	0	0	0	1	6830	697	25	4		4	GRIN2B	12	13722780	Silent	SNP	C	TCGA-CR-7373-01A-11D-2012-08	9313635	13722780	120129115	84	35789											
MBD6	114785	broad.mit.edu	37	chr12	57920934	57920934	+	Frame_Shift_Del	DEL	C	C	-																															acttttccccccactttcagCcccccctaccctcatagctt																										TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr12:57920934delC	ENST00000355673.3	+	7	2362	c.2006delC	c.(2005-2007)gcfs	p.A669fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.A669fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	669	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCACTTTCAGCCCCCCCTACC	0.642													14	29	---	---	---	---					-	57920934	C	-	57920934	7	5	200	1	0	1	0	1	0	0	0	0	9417	739	26	0	2024	0	MBD6	12	57920934	Frame_Shift_Del	DEL	C	TCGA-CR-7373-01A-11D-2012-08	44198154	57920934	75930961	85	35790											
TBX5	6910	broad.mit.edu	37	chr12	114804166	114804166	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggccactttttgcctcacGgtgctcctggggaccacggg	5	9	14	13	2	1	0	1	0	0	0	2	2	2	1	4	5	2	1	4	5	0	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr12:114804166G>C	ENST00000310346.4	-	8	1452	c.786C>G	c.(784-786)acC>acG	p.T262T	TBX5_ENST00000349716.5_Silent_p.T212T|TBX5_ENST00000526441.1_Silent_p.T262T|TBX5_ENST00000405440.2_Silent_p.T262T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	262					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTTGCCTCACGGTGCTCCTGG	0.512													4	88					0	0	0	0	C	114804166	G	C	114804166	2	2	200	1	0	0	0	0	0	0	0	1	15755	1103	39	3		3	TBX5	12	114804166	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	56883232	114804166	19047729	86	35791											
RNF10	9921	broad.mit.edu	37	chr12	120972767	120972767	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccggcgagtctaaacccaaGagcggtaaggacgggcctgc	10	4	15	12	4	1	1	0	0	1	1	1	3	1	2	3	4	3	1	3	4	4	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr12:120972767G>C	ENST00000325954.4	+	1	614	c.153G>C	c.(151-153)aaG>aaC	p.K51N	RNF10_ENST00000413266.2_Missense_Mutation_p.K51N	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	51	Ser-rich.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAAACCCAAGAGCGGTAAGG	0.701													8	26					0	0	0	0	C	120972767	G	C	120972767	3	2	200	1	0	0	0	0	1	0	0	0	13507	933	33	2	155	2	RNF10	12	120972767	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	6168601	120972767	12879128	87	35792											
ORAI1	84876	broad.mit.edu	37	chr12	122079382	122079382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatcatggtgcccttcGgcctgatctttatcgtcttc	5	14	7	15	2	3	1	1	1	2	0	6	1	3	1	4	2	1	0	4	2	1	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr12:122079382G>A	ENST00000330079.7	+	2	938	c.745G>A	c.(745-747)Ggc>Agc	p.G249S		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	247					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GGTGCCCTTCGGCCTGATCTT	0.627													28	56					0	0	0	0	A	122079382	G	A	122079382	3	1	200	1	0	0	0	0	1	0	0	0	11328	1116	39	1	751	1	ORAI1	12	122079382	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	1106615	122079382	11772513	88	35793											
PGAM5	192111	broad.mit.edu	37	chr12	133295392	133295392	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggattttgtgcttctggggtCctgacctctttcacttgctg	3	17	11	10	0	3	1	1	1	2	0	4	2	4	2	2	3	2	2	2	3	0	5			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr12:133295392C>G	ENST00000317555.2	+	6	822	c.764C>G	c.(763-765)tCc>tGc	p.S255C	PGAM5_ENST00000498926.2_Intron|PGAM5_ENST00000454808.2_Intron|PGAM5_ENST00000541034.1_Intron|PGAM5_ENST00000543955.1_Intron|PXMP2_ENST00000545677.1_Intron	NM_138575.3	NP_612642.2	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	0						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		CTTCTGGGGTCCTGACCTCTT	0.637													19	63					0	0	0	0	G	133295392	C	G	133295392	3	3	200	1	0	0	0	0	1	0	0	0	11848	855	30	2	786	2	PGAM5	12	133295392	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	11216010	133295392	556503	89	35794											
MYCBP2	23077	broad.mit.edu	37	chr13	77715011	77715011	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaggttcagactttggtttGaccaactgagttcctggtgg	7	14	13	7	0	1	4	1	3	0	1	2	4	2	4	2	4	1	3	2	4	1	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr13:77715011G>C	ENST00000407578.2	-	50	7637	c.7371C>G	c.(7369-7371)gtC>gtG	p.V2457V	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.V2419V|MYCBP2_ENST00000544440.2_Silent_p.V2419V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACTTTGGTTTGACCAACTGAG	0.408													66	179					0	0	0	0	C	77715011	G	C	77715011	2	2	200	1	0	0	0	0	0	0	0	1	10088	1277	45	2		2	MYCBP2	13	77715011	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08		77715011	37454867	90	35795											
OR4K2	390431	broad.mit.edu	37	chr14	20345329	20345329	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatagccatgaggaaactGaaaaataggtttctaaattt	18	11	8	4	0	1	3	0	2	1	1	1	4	1	4	1	2	2	1	1	2	8	5			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr14:20345329G>C	ENST00000298642.2	+	1	939	c.903G>C	c.(901-903)ctG>ctC	p.L301L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	301					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)		TGAGGAAACTGAAAAATAGGT	0.348													20	20					0	0	0	0	C	20345329	G	C	20345329	2	2	200	1	0	0	0	0	0	0	0	1	11143	1277	45	2		2	OR4K2	14	20345329	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08		20345329	87004211	91	35796											
RALGAPA1	253959	broad.mit.edu	37	chr14	36097115	36097115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagatgtgtaataacagtgCgggctgctatagagattaat	13	11	11	6	1	0	2	0	0	0	2	0	3	0	2	1	1	3	3	1	1	5	5			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr14:36097115C>T	ENST00000258840.6	-	34	5051	c.4661G>A	c.(4660-4662)cGc>cAc	p.R1554H	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.R1507H|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R1507H|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R1520H			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1507	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATAACAGTGCGGGCTGCTAT	0.398													45	35					0	0	0	0	T	36097115	C	T	36097115	3	4	200	1	0	0	0	0	1	0	0	0	13095	768	27	1	1775	1	RALGAPA1	14	36097115	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	15751786	36097115	71252425	92	35797											
TJP1	7082	broad.mit.edu	37	chr15	30011032	30011032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagtgctgattatcaaaaGgtggccgagatgggtagggc	11	8	17	5	1	1	3	1	1	0	2	1	5	1	3	1	4	1	2	1	4	4	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr15:30011032G>C	ENST00000346128.6	-	21	3788	c.3314C>G	c.(3313-3315)cCt>cGt	p.P1105R	TJP1_ENST00000545208.2_Missense_Mutation_p.P1025R|TJP1_ENST00000356107.6_Missense_Mutation_p.P1105R|TJP1_ENST00000400011.2_Missense_Mutation_p.P1029R	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1105					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATTATCAAAAGGTGGCCGAGA	0.493													4	162					0	0	0	0	C	30011032	G	C	30011032	3	2	200	1	0	0	0	0	1	0	0	0	16023	1000	35	4	1964	4	TJP1	15	30011032	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08		30011032	72520360	93	35798											
EHD4	30844	broad.mit.edu	37	chr15	42192864	42192864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcggccttgggcagggaCttcctgtgcgaggggggcac	5	7	18	11	2	0	0	0	0	0	0	2	2	1	1	2	6	1	2	2	6	0	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr15:42192864C>A	ENST00000220325.4	-	6	1688	c.1605G>T	c.(1603-1605)aaG>aaT	p.K535N		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	535	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TGGGCAGGGACTTCCTGTGCG	0.667													11	10					3.86212e-05	5.14949e-05	1	0	A	42192864	C	A	42192864	3	1	200	1	0	0	0	0	1	0	0	0	5016	564	20	4	24	4	EHD4	15	42192864	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	12181832	42192864	60338528	94	35799											
SH3GL3	6457	broad.mit.edu	37	chr15	84286874	84286874	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagccctgctgtcgtggtctCtatgactttgagccagaaaa	9	11	10	11	1	1	3	0	2	1	1	3	3	1	3	2	1	3	1	2	1	3	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr15:84286874C>G	ENST00000324537.5	+	12	1395	c.903C>G	c.(901-903)ctC>ctG	p.L301L	SH3GL3_ENST00000535412.1_3'UTR|SH3GL3_ENST00000434347.1_Silent_p.L301L|SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000427482.2_Silent_p.L293L			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	293	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GTCGTGGTCTCTATGACTTTG	0.398													20	49					0	0	0	0	G	84286874	C	G	84286874	2	3	200	1	0	0	0	0	0	0	0	1	14340	900	32	2		2	SH3GL3	15	84286874	Silent	SNP	C	TCGA-CR-7373-01A-11D-2012-08	42094010	84286874	18244518	95	35800											
PDE8A	5151	broad.mit.edu	37	chr15	85669605	85669605	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggaagaatatttttctcaGgtaagttgctgcctctttta	9	17	8	7	1	2	1	1	0	2	1	4	2	2	2	1	2	2	3	1	2	5	7			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr15:85669605G>A	ENST00000310298.4	+	21	2505	c.2253_splice	c.e21+1	p.Q751_splice	PDE8A_ENST00000339708.5_Splice_Site_p.Q705_splice|PDE8A_ENST00000557957.1_Splice_Site_p.Q679_splice|PDE8A_ENST00000394553.1_Splice_Site_p.Q751_splice			O60658	PDE8A_HUMAN	phosphodiesterase 8A	751	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			ATTTTTCTCAGGTAAGTTGCT	0.418													18	58					0	0	0	0	A	85669605	G	A	85669605	5	1	200	1	0	0	0	0	0	0	1	0	11724	1014	35	4	2331	4	PDE8A	15	85669605	Splice_Site	SNP	G	TCGA-CR-7373-01A-11D-2012-08	1382731	85669605	16861787	96	35801											
AGBL1	123624	broad.mit.edu	37	chr15	86687068	86687068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggctgctggccaaagttgGcctaagaggtactcgtactc	8	9	12	12	2	0	1	0	0	0	1	2	1	0	1	3	4	3	5	3	4	4	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr15:86687068G>A	ENST00000441037.2	+	2	211	c.116G>A	c.(115-117)gGc>gAc	p.G39D	AGBL1_ENST00000421325.2_Missense_Mutation_p.G39D	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	39					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCCAAAGTTGGCCTAAGAGGT	0.522													17	39					0	0	0	0	A	86687068	G	A	86687068	3	1	200	1	0	0	0	0	1	0	0	0	375	1203	42	4	118	4	AGBL1	15	86687068	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	1017463	86687068	15844324	97	35802											
PDIA2	64714	broad.mit.edu	37	chr16	335330	335330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgtctgccaagatcttcGcggccaggatcctcaaccac	10	7	9	15	3	3	2	1	0	2	2	5	3	4	3	4	2	2	0	4	2	2	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr16:335330G>A	ENST00000219406.6	+	6	832	c.814G>A	c.(814-816)Gcg>Acg	p.A272T	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Missense_Mutation_p.A269T	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	272					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CAAGATCTTCGCGGCCAGGAT	0.642													11	40					0	0	0	0	A	335330	G	A	335330	3	1	200	1	0	0	0	0	1	0	0	0	11739	1087	38	1	836	1	PDIA2	16	335330	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08		335330	90019423	98	35803											
FBXL16	146330	broad.mit.edu	37	chr16	745785	745785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgagatggccgcgatggcgtCgtcggccacgttgatgcagt	6	8	16	11	7	0	2	0	1	0	1	2	4	0	2	2	3	1	2	2	3	0	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr16:745785C>T	ENST00000397621.1	-	3	1103	c.772G>A	c.(772-774)Gac>Aac	p.D258N	FBXL16_ENST00000324361.5_Missense_Mutation_p.D258N|FBXL16_ENST00000562563.1_Missense_Mutation_p.D46N	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	258										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GCGATGGCGTCGTCGGCCACG	0.687													20	30					0	0	0	0	T	745785	C	T	745785	3	4	200	1	0	0	0	0	1	0	0	0	5757	884	31	1	683	1	FBXL16	16	745785	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	410455	745785	89608968	99	35804											
SH2B1	25970	broad.mit.edu	37	chr16	28883683	28883683	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtgagacaaggcggggTgaatacgtcctcaccttcaa	12	7	12	10	2	2	3	2	2	0	2	3	4	3	3	2	3	1	0	2	3	4	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr16:28883683T>G	ENST00000337120.5	+	6	4977	c.1686T>G	c.(1684-1686)ggT>ggG	p.G562G	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Silent_p.G562G|SH2B1_ENST00000538342.1_Silent_p.G226G|SH2B1_ENST00000359285.5_Silent_p.G562G|SH2B1_ENST00000545570.1_Silent_p.G252G|SH2B1_ENST00000322610.8_Silent_p.G562G	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	562	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CAAGGCGGGGTGAATACGTCC	0.612													4	60					0	0	0	0	G	28883683	T	G	28883683	2	3	200	1	0	0	0	0	0	0	0	1	14314	1683	59	5		5	SH2B1	16	28883683	Silent	SNP	T	TCGA-CR-7373-01A-11D-2012-08	28137898	28883683	61471070	100	35805											
ATP2A1	487	broad.mit.edu	37	chr16	28906160	28906160	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggccaaaggtgtctatgaGaaggtcggcgaggccaccga	11	5	15	10	3	1	1	0	1	1	1	2	4	1	1	3	5	0	0	3	5	3	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr16:28906160G>A	ENST00000395503.4	+	12	1489	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	ATP2A1_ENST00000536376.1_Silent_p.E310E|ATP2A1_ENST00000357084.3_Silent_p.E435E	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	435					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GTGTCTATGAGAAGGTCGGCG	0.567													17	41					0	0	0	0	A	28906160	G	A	28906160	2	1	200	1	0	0	0	0	0	0	0	1	1140	933	33	2		2	ATP2A1	16	28906160	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	22477	28906160	61448593	101	35806											
ZNF668	79759	broad.mit.edu	37	chr16	31073297	31073297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggtccgccggctgccGgaagtccttgccgcacttct	4	8	13	16	4	1	0	0	0	1	0	3	1	3	1	6	4	2	2	6	4	1	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr16:31073297G>A	ENST00000538906.1	-	3	1736	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	ZNF668_ENST00000535577.1_Missense_Mutation_p.R318W|ZNF668_ENST00000426488.2_Missense_Mutation_p.R341W|ZNF668_ENST00000539836.3_Missense_Mutation_p.R341W|ZNF668_ENST00000417110.2_Missense_Mutation_p.R162Q|ZNF668_ENST00000394983.2_Missense_Mutation_p.R318W|ZNF668_ENST00000300849.4_Missense_Mutation_p.R318W	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCCGGCTGCCGGAAGTCCTTG	0.662													10	34					0	0	0	0	A	31073297	G	A	31073297	3	1	200	1	0	0	0	0	1	0	0	0	18170	1115	39	1	911	1	ZNF668	16	31073297	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	2167137	31073297	59281456	102	35807											
CTRB2	440387	broad.mit.edu	37	chr16	75238201	75238201	+	Frame_Shift_Del	DEL	A	A	-																															ctccgtccttctggcagaccAgggggcctccagagtcaccc																										TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr16:75238201delA	ENST00000303037.8	-	7	693	c.650delT	c.(649-651)cgfs	p.L217fs		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	217	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTGGCAGACCAGGGGGCCTCC	0.657													18	49	---	---	---	---					-	75238201	A	-	75238201	7	5	200	1	0	1	0	1	0	0	0	0	4058	188	7	0	145	0	CTRB2	16	75238201	Frame_Shift_Del	DEL	A	TCGA-CR-7373-01A-11D-2012-08	44164904	75238201	15116552	103	35808											
TRPV1	7442	broad.mit.edu	37	chr17	3475479	3475479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacctgcagcagcttgcctGagcggaaggccttcctcatg	7	8	11	15	1	1	1	1	1	0	0	2	2	2	2	5	2	5	3	5	2	1	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:3475479G>A	ENST00000174621.6	-	13	2451	c.2162C>T	c.(2161-2163)tCa>tTa	p.S721L	SHPK_ENST00000572705.1_Missense_Mutation_p.S723L|TRPV1_ENST00000425167.2_Missense_Mutation_p.S734L|TRPV1_ENST00000310522.5_Missense_Mutation_p.S663L|TRPV1_ENST00000571088.1_Missense_Mutation_p.S723L|TRPV1_ENST00000399759.3_Missense_Mutation_p.S723L|TRPV1_ENST00000576351.1_Missense_Mutation_p.S713L|TRPV1_ENST00000399756.4_Missense_Mutation_p.S723L			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	723					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CAGCTTGCCTGAGCGGAAGGC	0.592													7	22					0	0	0	0	A	3475479	G	A	3475479	3	1	200	1	0	0	0	0	1	0	0	0	16690	1294	45	2	363	2	TRPV1	17	3475479	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08		3475479	77719731	104	35809											
RNF167	26001	broad.mit.edu	37	chr17	4847869	4847869	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggagaccagtatgatgtCtgtgccatttgcctggatga	9	11	12	9	0	1	3	0	2	1	1	1	5	1	4	4	2	2	1	4	2	1	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:4847869C>T	ENST00000262482.6	+	9	1343	c.687C>T	c.(685-687)gtC>gtT	p.V229V	RNF167_ENST00000572430.1_Silent_p.V229V|RNF167_ENST00000571816.1_Silent_p.V229V|RNF167_ENST00000575111.1_Silent_p.V229V|RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000576229.1_Silent_p.V194V	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	229					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						AGTATGATGTCTGTGCCATTT	0.517													20	84					0	0	0	0	T	4847869	C	T	4847869	2	4	200	1	0	0	0	0	0	0	0	1	13543	900	32	2		2	RNF167	17	4847869	Silent	SNP	C	TCGA-CR-7373-01A-11D-2012-08	1372390	4847869	76347341	105	35810											
USP6	9098	broad.mit.edu	37	chr17	5048764	5048764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgttccatgggcagctaaGatctcaagtcaaatgcaaga	13	11	9	8	0	2	2	2	0	1	2	4	2	3	2	1	1	2	4	1	1	4	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:5048764G>A	ENST00000574788.1	+	27	4287	c.2057G>A	c.(2056-2058)aGa>aAa	p.R686K	USP6_ENST00000332776.4_Missense_Mutation_p.R686K|USP6_ENST00000250066.6_Missense_Mutation_p.R686K|USP6_ENST00000304328.5_Missense_Mutation_p.R369K			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	686					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGGCAGCTAAGATCTCAAGTC	0.373			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								19	47					0	0	0	0	A	5048764	G	A	5048764	3	1	200	1	0	0	0	0	1	0	0	0	17182	942	33	2	2127	2	USP6	17	5048764	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	200895	5048764	76146446	106	35811											
SREBF1	6720	broad.mit.edu	37	chr17	17720296	17720297	+	Frame_Shift_Ins	INS	-	-	TT																															ccaggtccaggtcagcctgcINSttgcgatgcctccagaagta																										TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:17720296_17720297insTT	ENST00000355815.4	-	10	2019_2020	c.1850_1851insAA	c.(1849-1851)acafs	p.T617fs	SREBF1_ENST00000338854.5_Frame_Shift_Ins_p.T587fs|SREBF1_ENST00000395757.1_Frame_Shift_Ins_p.T333fs|SREBF1_ENST00000261646.5_Frame_Shift_Ins_p.T587fs	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	587					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGTCAGCCTGCTTGCGATGCCT	0.653													37	100	---	---	---	---					TT	17720297	-	TT	17720296	7	5	200	1	0	1	1	0	0	0	0	0	15231	796	28	0	1726	0	SREBF1	17	17720296	Frame_Shift_Ins	INS	-	TCGA-CR-7373-01A-11D-2012-08	12671532	17720296	63474914	107	35812											
LLGL1	3996	broad.mit.edu	37	chr17	18144788	18144788	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcacactgcccaaggtgagCgcgaagaccaagttcaagct	12	7	10	12	2	2	2	2	1	0	1	2	3	2	2	2	1	3	2	2	1	4	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:18144788C>T	ENST00000316843.4	+	18	2622	c.2526C>T	c.(2524-2526)agC>agT	p.S842S		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	842					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CCAAGGTGAGCGCGAAGACCA	0.632													11	29					0	0	0	0	T	18144788	C	T	18144788	2	4	200	1	0	0	0	0	0	0	0	1	8888	767	27	1		1	LLGL1	17	18144788	Silent	SNP	C	TCGA-CR-7373-01A-11D-2012-08	424492	18144788	63050422	108	35813											
SHMT1	6470	broad.mit.edu	37	chr17	18244076	18244076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttcgggtggaagaggcGtgcgttctcctccagctggt	5	10	15	11	3	1	1	0	0	1	1	4	2	2	2	2	4	3	3	2	4	1	2	rs148701087	byFrequency	TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:18244076G>A	ENST00000316694.3	-	6	705	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	SHMT1_ENST00000539052.1_Missense_Mutation_p.R53C|SHMT1_ENST00000352886.6_Missense_Mutation_p.R191C|SHMT1_ENST00000354098.3_Missense_Mutation_p.R191C	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	191					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TGGAAGAGGCGTGCGTTCTCC	0.557													5	12					0	0	0	0	A	18244076	G	A	18244076	3	1	200	1	0	0	0	0	1	0	0	0	14373	1145	40	1	908	1	SHMT1	17	18244076	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	99288	18244076	62951134	109	35814											
MED1	5469	broad.mit.edu	37	chr17	37576168	37576168	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtgctgctgaccaggaaGagcctgggcaaaaagaacag	14	4	14	9	0	0	3	0	1	0	2	0	4	0	4	2	2	4	4	2	2	4	0			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:37576168G>C	ENST00000300651.6	-	14	1322	c.1099C>G	c.(1099-1101)Ctt>Gtt	p.L367V	MED1_ENST00000394287.3_Missense_Mutation_p.L367V	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	367	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGACCAGGAAGAGCCTGGGCA	0.433										HNSCC(31;0.082)			23	36					0	0	0	0	C	37576168	G	C	37576168	3	2	200	1	0	0	0	0	1	0	0	0	9494	942	33	2	3662	2	MED1	17	37576168	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	19332092	37576168	43619042	110	35815											
SMARCE1	6605	broad.mit.edu	37	chr17	38785063	38785063	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttctcatcttctggtaTgggatctgttggtggctcct	3	20	10	8	0	4	0	1	0	4	0	6	1	5	1	1	4	0	3	1	4	1	6			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:38785063T>C	ENST00000348513.6	-	11	1990	c.1210A>G	c.(1210-1212)Ata>Gta	p.I404V	SMARCE1_ENST00000431889.2_Missense_Mutation_p.I386V|SMARCE1_ENST00000400122.3_3'UTR|SMARCE1_ENST00000578044.1_Missense_Mutation_p.I334V|SMARCE1_ENST00000544009.1_Missense_Mutation_p.I334V|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000377808.4_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.I369V	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	404	Glu-rich.				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				TCTTCTGGTATGGGATCTGTT	0.418													64	131					0	0	0	0	C	38785063	T	C	38785063	3	2	200	1	0	0	0	0	1	0	0	0	14868	1464	51	5	29	5	SMARCE1	17	38785063	Missense_Mutation	SNP	T	TCGA-CR-7373-01A-11D-2012-08	1208895	38785063	42410147	111	35816											
FZD2	2535	broad.mit.edu	37	chr17	42635585	42635585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggactgcagccgggtgccGggggcaccccgggtggcccg	3	3	20	15	5	0	0	0	0	0	0	0	1	0	1	5	6	3	2	5	6	0	0			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:42635585G>A	ENST00000315323.3	+	1	661	c.529G>A	c.(529-531)Ggg>Agg	p.G177R		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	177					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		gccgggtgccgggggcacccc	0.766													5	13					0	0	0	0	A	42635585	G	A	42635585	3	1	200	1	0	0	0	0	1	0	0	0	6178	1116	39	1	531	1	FZD2	17	42635585	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	3850522	42635585	38559625	112	35817											
RSAD1	55316	broad.mit.edu	37	chr17	48556334	48556334	+	Frame_Shift_Del	DEL	C	C	-																															cgtggagaacgcaggagggtCcccgagtcctgagcctgcgg																										TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:48556334delC	ENST00000258955.2	+	1	174	c.89delC	c.(88-90)tcfs	p.S30fs		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	30					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAGGAGGGTCCCCGAGTCCT	0.776											OREG0024566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					-	48556334	C	-	48556334	7	5	200	1	0	1	0	1	0	0	0	0	13779	855	30	0	91	0	RSAD1	17	48556334	Frame_Shift_Del	DEL	C	TCGA-CR-7373-01A-11D-2012-08	5920749	48556334	32638876	113	35818											
DGKE	8526	broad.mit.edu	37	chr17	54940147	54940147	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagatataaaggcgactGaatagatggatgagggagtg	17	7	15	2	1	0	5	0	2	0	3	0	8	0	7	0	3	0	0	0	3	7	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:54940147G>T	ENST00000284061.3	+	12	1879	c.1699G>T	c.(1699-1701)Gaa>Taa	p.E567*		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	567					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AAAGGCGACTGAATAGATGGA	0.358													10	17					2.17888e-05	2.92467e-05	1	0	T	54940147	G	T	54940147	4	4	200	1	0	0	0	0	0	1	0	0	4505	1291	45	2	1741	2	DGKE	17	54940147	Nonsense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	6383813	54940147	26255063	114	35819											
ITGB4	3691	broad.mit.edu	37	chr17	73751885	73751885	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggagccgcggtgcgaGcggccgctgcagggctacag	6	4	19	12	5	0	0	0	0	0	0	0	2	0	1	2	5	5	4	2	5	1	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr17:73751885G>A	ENST00000200181.3	+	35	4849	c.4662G>A	c.(4660-4662)gaG>gaA	p.E1554E	ITGB4_ENST00000339591.3_Silent_p.E1537E|ITGB4_ENST00000449880.2_Silent_p.E1537E|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Silent_p.E1484E|ITGB4_ENST00000450894.3_Silent_p.E1484E	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1554	Fibronectin type-III 3.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCGGTGCGAGCGGCCGCTGC	0.701													11	25					0	0	0	0	A	73751885	G	A	73751885	2	1	200	1	0	0	0	0	0	0	0	1	7950	962	34	4		4	ITGB4	17	73751885	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	18811738	73751885	7443325	115	35820											
PQLC1	80148	broad.mit.edu	37	chr18	77710917	77710917	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caggagccagtccaggccctCggcctccatcgcagcgcccg	6	4	12	19	4	0	0	0	0	0	0	4	1	2	1	6	3	2	1	6	3	0	0			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr18:77710917C>G	ENST00000397778.2	-	2	192	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	PQLC1_ENST00000590381.1_Missense_Mutation_p.E4Q|PQLC1_ENST00000357575.4_Missense_Mutation_p.E4Q	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	4						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TCCAGGCCCTCGGCCTCCATC	0.766													3	6					0	0	0	0	G	77710917	C	G	77710917	3	3	200	1	0	0	0	0	1	0	0	0	12494	893	31	3	825	3	PQLC1	18	77710917	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08		77710917	366331	116	35821											
ZNRF4	148066	broad.mit.edu	37	chr19	5456154	5456154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgttcgtgagcgaggccGcctcgcaggacctgcgggtc	5	7	16	13	5	0	1	0	1	0	0	3	3	0	2	3	3	2	2	3	3	0	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr19:5456154G>A	ENST00000222033.4	+	1	729	c.652G>A	c.(652-654)Gcc>Acc	p.A218T		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	218	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GAGCGAGGCCGCCTCGCAGGA	0.672													34	74					0	0	0	0	A	5456154	G	A	5456154	3	1	200	1	0	0	0	0	1	0	0	0	18307	1087	38	1	654	1	ZNRF4	19	5456154	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08		5456154	53672829	117	35822											
SMARCA4	6597	broad.mit.edu	37	chr19	11132522	11132522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgctgacgggcacacCgctgcagaacaagcttcccg	8	6	11	16	3	0	2	0	1	0	1	1	2	1	2	3	1	5	6	3	1	2	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr19:11132522C>T	ENST00000358026.2	+	19	3022	c.2738C>T	c.(2737-2739)cCg>cTg	p.P913L	SMARCA4_ENST00000413806.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P913L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P913L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P913L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P913L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	913	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.P913Q(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACGGGCACACCGCTGCAGAAC	0.612			"F, N, Mis"		NSCLC								12	44					0	0	0	0	T	11132522	C	T	11132522	3	4	200	1	0	0	0	0	1	0	0	0	14858	652	23	1	2808	1	SMARCA4	19	11132522	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	5676368	11132522	47996461	118	35823											
NOTCH3	4854	broad.mit.edu	37	chr19	15290215	15290215	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcagagatagcgggccacGaggtcaatgcatgaaccccc	12	4	13	12	2	1	2	1	1	0	1	1	5	1	2	3	2	4	2	3	2	3	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr19:15290215G>A	ENST00000263388.2	-	21	3495	c.3420C>T	c.(3418-3420)ctC>ctT	p.L1140L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1140	EGF-like 29; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGCGGGCCACGAGGTCAATGC	0.602													12	37					0	0	0	0	A	15290215	G	A	15290215	2	1	200	1	0	0	0	0	0	0	0	1	10620	1045	37	1		1	NOTCH3	19	15290215	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	4157693	15290215	43838768	119	35824											
CEACAM6	4680	broad.mit.edu	37	chr19	42260628	42260628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacaacctgccccagaatcGtattggttacagctggtaca	11	9	8	13	1	0	1	0	0	0	1	1	1	0	1	4	2	5	4	4	2	5	4	rs145319104		TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr19:42260628G>A	ENST00000199764.6	+	2	403	c.185G>A	c.(184-186)cGt>cAt	p.R62H	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	62	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCCCAGAATCGTATTGGTTAC	0.512													6	189					0	0	0	0	A	42260628	G	A	42260628	3	1	200	1	0	0	0	0	1	0	0	0	3225	1145	40	1	191	1	CEACAM6	19	42260628	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	26970413	42260628	16868355	120	35825											
RUVBL2	10856	broad.mit.edu	37	chr19	49507659	49507659	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccagccgggcacggggaaGacggccatcgccatgggtaa	9	3	17	12	4	0	1	0	0	0	1	1	2	0	2	4	6	1	2	4	6	2	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr19:49507659G>C	ENST00000413176.2	+	4	1262	c.114G>C	c.(112-114)aaG>aaC	p.K38N	RUVBL2_ENST00000595090.1_Missense_Mutation_p.K83N|RUVBL2_ENST00000601968.1_Missense_Mutation_p.K38N			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	83					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GCACGGGGAAGACGGCCATCG	0.622													14	60					0	0	0	0	C	49507659	G	C	49507659	3	2	200	1	0	0	0	0	1	0	0	0	13838	933	33	2	263	2	RUVBL2	19	49507659	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08	7247031	49507659	9621324	121	35826											
PRR12	57479	broad.mit.edu	37	chr19	50098966	50098966	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgggaccccaggcctacggGcaagggtttggaggggggca	7	5	19	10	1	0	0	0	0	0	0	0	2	0	2	3	8	1	3	3	8	2	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr19:50098966G>T	ENST00000418929.2	+	4	1386	c.1374G>T	c.(1372-1374)ggG>ggT	p.G458G		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	207	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)		AGGCCTACGGGCAAGGGTTTG	0.711													7	20					0.00198382	0.00261029	1	0	T	50098966	G	T	50098966	2	4	200	1	0	0	0	0	0	0	0	1	12664	1190	42	4		4	PRR12	19	50098966	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08	591307	50098966	9030017	122	35827											
MYBPC2	4606	broad.mit.edu	37	chr19	50958903	50958903	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtactgcctggaaggctgTgagtgaccctggcagggctg	7	8	17	9	0	0	2	0	2	0	0	0	4	0	3	2	4	2	4	2	4	2	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr19:50958903T>C	ENST00000357701.5	+	20	2389		c.e20+2			NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGGAAGGCTGTGAGTGACCCT	0.602													31	46					0	0	0	0	C	50958903	T	C	50958903	5	2	200	1	0	0	0	0	0	0	1	0	10082	1710	59	5	2418	5	MYBPC2	19	50958903	Splice_Site	SNP	T	TCGA-CR-7373-01A-11D-2012-08	859937	50958903	8170080	123	35828											
GGTLC1	92086	broad.mit.edu	37	chr20	23966391	23966391	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcccacttcacgtcataGccgaaccagaggttgtagat	11	8	10	12	3	2	2	2	0	0	2	2	3	2	2	3	2	2	2	3	2	3	4			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr20:23966391G>A	ENST00000335694.4	-	5	648	c.444C>T	c.(442-444)ggC>ggT	p.G148G	GGTLC1_ENST00000286890.4_Silent_p.G148G|GGTLC1_ENST00000278765.4_Silent_p.G148G	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	148							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TCACGTCATAGCCGAACCAGA	0.612													38	142					0	0	0	0	A	23966391	G	A	23966391	2	1	200	1	0	0	0	0	0	0	0	1	6416	958	34	4		4	GGTLC1	20	23966391	Silent	SNP	G	TCGA-CR-7373-01A-11D-2012-08		23966391	39059129	124	35829											
RBL1	5933	broad.mit.edu	37	chr20	35695460	35695460	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgcattggcaaaaatcagAtccaagcagcatagaagtaa	18	7	8	8	1	1	2	1	0	0	2	3	2	2	2	1	1	2	5	1	1	6	3			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr20:35695460A>G	ENST00000373664.3	-	5	687	c.621T>C	c.(619-621)gaT>gaC	p.D207D	RBL1_ENST00000344359.3_Silent_p.D207D	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	207					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CAAAAATCAGATCCAAGCAGC	0.303													25	68					0	0	0	0	G	35695460	A	G	35695460	2	3	200	1	0	0	0	0	0	0	0	1	13191	330	12	5		5	RBL1	20	35695460	Silent	SNP	A	TCGA-CR-7373-01A-11D-2012-08	11729069	35695460	27330060	125	35830											
SEMG1	6406	broad.mit.edu	37	chr20	43837187	43837187	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaatagagaacaagacCtactcagtcatgaacaaaaa	21	6	5	9	0	2	3	2	1	0	2	2	4	2	3	1	0	4	0	1	0	9	3	rs145325570	byFrequency	TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr20:43837187C>A	ENST00000372781.3	+	2	1306	c.1249C>A	c.(1249-1251)Cta>Ata	p.L417I	SEMG1_ENST00000244069.6_Missense_Mutation_p.L357I	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGAACAAGACCTACTCAGTCA	0.438													21	48					4.96729e-08	6.80451e-08	1	0	A	43837187	C	A	43837187	3	1	200	1	0	0	0	0	1	0	0	0	14131	680	24	4	1255	4	SEMG1	20	43837187	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08	8141727	43837187	19188333	126	35831											
ZNF831	128611	broad.mit.edu	37	chr20	57768086	57768086	+	Frame_Shift_Del	DEL	T	T	-																															agcagggagctcaggcacagTccccacccaagacaggagga																										TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr20:57768086delT	ENST00000371030.2	+	1	2012	c.2012delT	c.(2011-2013)gcfs	p.V671fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	671						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCAGGCACAGTCCCCACCCAA	0.622													19	35	---	---	---	---					-	57768086	T	-	57768086	7	5	200	1	0	1	0	1	0	0	0	0	18278	1667	58	0	2014	0	ZNF831	20	57768086	Frame_Shift_Del	DEL	T	TCGA-CR-7373-01A-11D-2012-08	13930899	57768086	5257434	127	35832											
DSCAM	1826	broad.mit.edu	37	chr21	41710050	41710050	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcacggtcacgtggacgctCtggctggtggagagttgtgg	5	11	17	8	3	3	1	2	0	1	1	3	3	3	2	0	6	0	3	0	6	0	2			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr21:41710050C>G	ENST00000400454.1	-	8	2238	c.1761G>C	c.(1759-1761)caG>caC	p.Q587H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	587	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGTGGACGCTCTGGCTGGTGG	0.507													12	102					0	0	0	0	G	41710050	C	G	41710050	3	3	200	1	0	0	0	0	1	0	0	0	4804	912	32	2	4381	2	DSCAM	21	41710050	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08		41710050	6419845	128	35833											
LZTR1	8216	broad.mit.edu	37	chr22	21348988	21348988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctggttgtgtgcgagagtgCcgcccggctgcagctgagcc	4	8	17	12	3	0	2	0	1	0	1	0	3	0	2	3	2	5	5	3	2	0	1			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chr22:21348988C>T	ENST00000215739.8	+	15	2116	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.A567V	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	586					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGCGAGAGTGCCGCCCGGCTG	0.657													3	31					0	0	0	0	T	21348988	C	T	21348988	3	4	200	1	0	0	0	0	1	0	0	0	9202	739	26	4	1815	4	LZTR1	22	21348988	Missense_Mutation	SNP	C	TCGA-CR-7373-01A-11D-2012-08		21348988	29955578	129	35834											
SYAP1	94056	broad.mit.edu	37	chrX	16737953	16737953	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccgtccgagacggtggctGagtctgcggaggaggagctg	7	6	19	9	4	1	2	0	1	1	1	2	6	2	5	2	5	3	2	2	5	0	0			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chrX:16737953G>C	ENST00000380155.3	+	1	199	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	SYAP1_ENST00000495743.1_3'UTR	NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	36										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					GACGGTGGCTGAGTCTGCGGA	0.667													4	3					0	0	0	0	C	16737953	G	C	16737953	3	2	200	1	0	0	0	0	1	0	0	0	15516	1291	45	2	108	2	SYAP1	23	16737953	Missense_Mutation	SNP	G	TCGA-CR-7373-01A-11D-2012-08		16737953	138532607	130	35835											
SSX1	6756	broad.mit.edu	37	chrX	48123288	48123288	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagcatctggcccacaaaaCgatgggaaacaactgcaccc	15	4	9	13	1	1	0	0	0	1	0	1	3	1	1	2	2	5	2	2	2	5	0			TCGA-CR-7373-01A-11D-2012-08	TCGA-CR-7373-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1f5f6d-503c-4933-944a-b4fd1cc3fa93	88363097-f88e-49cc-9f95-068aa5a3a03f	g.chrX:48123288C>T	ENST00000376919.3	+	6	538	c.402C>T	c.(400-402)aaC>aaT	p.N134N		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GCCCACAAAACGATGGGAAAC	0.423			T	SS18	synovial sarcoma								82	59					0	0	0	0	T	48123288	C	T	48123288	2	4	200	1	0	0	0	0	0	0	0	1	15293	535	19	1		1	SSX1	23	48123288	Silent	SNP	C	TCGA-CR-7373-01A-11D-2012-08	31385335	48123288	107147272	131	35836											
CASZ1	54897	broad.mit.edu	37	chr1	10713622	10713622	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggtgtgtcaggggtggctGaggctgctgacccagacgac	6	8	18	9	1	1	3	1	2	0	1	1	4	1	3	1	5	1	3	1	5	0	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:10713622G>C	ENST00000377022.3	-	11	2809	c.2492C>G	c.(2491-2493)tCa>tGa	p.S831*	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Nonsense_Mutation_p.S831*	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	831					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGGGGTGGCTGAGGCTGCTGA	0.706													12	52					0	0	0	0	C	10713622	G	C	10713622	4	2	201	1	0	0	0	0	0	1	0	0	2710	1294	45	2	2835	2	CASZ1	1	10713622	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08		10713622	238536999	1	35837											
PDPN	10630	broad.mit.edu	37	chr1	13940214	13940214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagacacacagacaacagttGagaaaggtaggctagatttt	16	8	11	6	0	0	4	0	1	0	4	0	6	0	4	0	2	1	3	0	2	4	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:13940214G>C	ENST00000294489.6	+	4	933	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	PDPN_ENST00000376061.4_Missense_Mutation_p.E80Q|PDPN_ENST00000513143.1_Missense_Mutation_p.E80Q|PDPN_ENST00000475043.1_Missense_Mutation_p.E80Q|PDPN_ENST00000376057.4_Missense_Mutation_p.E198Q|PDPN_ENST00000509009.1_Missense_Mutation_p.E117Q|PDPN_ENST00000487038.1_Missense_Mutation_p.E80Q			Q86YL7	PDPN_HUMAN	podoplanin	122					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GACAACAGTTGAGAAAGGTAG	0.323													16	19					0	0	0	0	C	13940214	G	C	13940214	3	2	201	1	0	0	0	0	1	0	0	0	11759	1291	45	2	606	2	PDPN	1	13940214	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	3226592	13940214	235310407	2	35838											
PUM1	9698	broad.mit.edu	37	chr1	31423055	31423055	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atctgtagtgccaatgacagGacgtggcctcgaatccgttc	9	10	11	11	3	1	1	0	1	1	0	4	3	2	2	3	2	1	2	3	2	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:31423055G>A	ENST00000373747.3	-	17	2877	c.2778C>T	c.(2776-2778)gtC>gtT	p.V926V	PUM1_ENST00000257075.5_Silent_p.V925V|PUM1_ENST00000373741.4_Silent_p.V961V|PUM1_ENST00000440538.2_Silent_p.V899V|PUM1_ENST00000426105.2_Silent_p.V925V|PUM1_ENST00000424085.2_Silent_p.V683V|PUM1_ENST00000423018.2_Silent_p.V781V|PUM1_ENST00000373742.2_Silent_p.V866V	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	925	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CCAATGACAGGACGTGGCCTC	0.438													6	65					0	0	0	0	A	31423055	G	A	31423055	2	1	201	1	0	0	0	0	0	0	0	1	12907	1161	41	2		2	PUM1	1	31423055	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	17482841	31423055	217827566	3	35839											
TRIT1	54802	broad.mit.edu	37	chr1	40319737	40319737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctcgggcaaatatatcttCaatgtgaacattaagaaaga	16	11	8	6	1	3	3	1	1	2	2	4	3	3	3	0	1	1	1	0	1	7	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:40319737C>T	ENST00000316891.5	-	3	333	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.E107K|TRIT1_ENST00000372818.1_Missense_Mutation_p.E107K	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	107					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AATATATCTTCAATGTGAACA	0.373													13	73					0	0	0	0	T	40319737	C	T	40319737	3	4	201	1	0	0	0	0	1	0	0	0	16655	840	29	2	1120	2	TRIT1	1	40319737	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	8896682	40319737	208930884	4	35840											
RIMS3	9783	broad.mit.edu	37	chr1	41107389	41107389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccccctcaccaggctgcGgaagctggagtgtgctcttg	6	9	13	13	1	2	0	1	0	1	0	2	2	2	2	3	3	4	3	3	3	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:41107389G>A	ENST00000372684.3	-	3	678	c.209C>T	c.(208-210)cCg>cTg	p.P70L	RIMS3_ENST00000372683.1_Missense_Mutation_p.P70L	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	70					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			ACCAGGCTGCGGAAGCTGGAG	0.637													15	92					0	0	0	0	A	41107389	G	A	41107389	3	1	201	1	0	0	0	0	1	0	0	0	13454	1116	39	1	741	1	RIMS3	1	41107389	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	787652	41107389	208143232	5	35841											
SLC5A9	200010	broad.mit.edu	37	chr1	48708177	48708177	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgccccctctctgagctgGagaaggaggcccacgagagc	9	5	13	14	1	1	3	0	1	1	2	2	6	1	4	3	3	3	1	3	3	1	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:48708177G>T	ENST00000236495.5	+	14	1851	c.1801G>T	c.(1801-1803)Gag>Tag	p.E601*	SLC5A9_ENST00000438567.2_Nonsense_Mutation_p.E576*|SLC5A9_ENST00000533824.1_Nonsense_Mutation_p.E597*|SLC5A9_ENST00000471020.1_3'UTR	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	576						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTCTGAGCTGGAGAAGGAGGC	0.622													6	170					0.00116845	0.00143586	1	0	T	48708177	G	T	48708177	4	4	201	1	0	0	0	0	0	1	0	0	14760	1175	41	2	1855	2	SLC5A9	1	48708177	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	7600788	48708177	200542444	6	35842											
ELAVL4	1996	broad.mit.edu	37	chr1	50661352	50661352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgattactgtgaagtttGccaacaaccccagccagaag	14	7	8	12	1	0	2	0	1	0	1	0	3	0	2	5	0	6	1	5	0	6	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:50661352G>T	ENST00000371824.1	+	5	885	c.628G>T	c.(628-630)Gcc>Tcc	p.A210S	ELAVL4_ENST00000371823.4_Missense_Mutation_p.A210S|ELAVL4_ENST00000371819.1_Missense_Mutation_p.A215S|ELAVL4_ENST00000448907.2_Missense_Mutation_p.A213S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.A215S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.A210S|ELAVL4_ENST00000357083.4_Missense_Mutation_p.A227S			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	210	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TGTGAAGTTTGCCAACAACCC	0.572													57	94					4.54978e-40	7.19276e-40	1	0	T	50661352	G	T	50661352	3	4	201	1	0	0	0	0	1	0	0	0	5090	1319	46	4	745	4	ELAVL4	1	50661352	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	1953175	50661352	198589269	7	35843											
FAM73A	374986	broad.mit.edu	37	chr1	78279429	78279429	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatttttaggtatggaattGtttgaagaggcattgcgtcg	10	16	12	3	2	0	2	0	1	0	1	1	3	0	3	0	3	1	3	0	3	5	8			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:78279429G>A	ENST00000370791.3	+	6	680	c.648G>A	c.(646-648)ttG>ttA	p.L216L	FAM73A_ENST00000443751.2_Silent_p.L178L	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	216						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GTATGGAATTGTTTGAAGAGG	0.388													45	50					0	0	0	0	A	78279429	G	A	78279429	2	1	201	1	0	0	0	0	0	0	0	1	5663	1368	48	4		4	FAM73A	1	78279429	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	27618077	78279429	170971192	8	35844											
MCOLN3	55283	broad.mit.edu	37	chr1	85498622	85498622	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatgtgaaaaggttcatctgGctccacaaagaaacactctg	15	9	8	9	0	3	2	1	1	2	1	4	2	4	2	1	2	1	2	1	2	5	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:85498622G>C	ENST00000370587.1	-	6	944	c.568C>G	c.(568-570)Cca>Gca	p.P190A	MCOLN3_ENST00000341115.4_Missense_Mutation_p.P134A|MCOLN3_ENST00000370589.2_Missense_Mutation_p.P190A|WDR63_ENST00000370596.1_Intron			Q8TDD5	MCLN3_HUMAN	mucolipin 3	190						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GGTTCATCTGGCTCCACAAAG	0.398													110	126					0	0	0	0	C	85498622	G	C	85498622	3	2	201	1	0	0	0	0	1	0	0	0	9466	1203	42	4	1129	4	MCOLN3	1	85498622	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	7219193	85498622	163751999	9	35845											
CCDC18	343099	broad.mit.edu	37	chr1	93672782	93672782	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtattttgaagctagagagtGagttagagaacaaagacgaa	17	9	12	3	1	0	5	0	2	0	3	0	8	0	5	0	0	2	3	0	0	7	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:93672782G>C	ENST00000343253.7	+	9	1538	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q	CCDC18_ENST00000557479.1_Missense_Mutation_p.E464Q|CCDC18_ENST00000338949.4_Missense_Mutation_p.E145Q|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.E346Q			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	346										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GCTAGAGAGTGAGTTAGAGAA	0.353													7	36					0	0	0	0	C	93672782	G	C	93672782	3	2	201	1	0	0	0	0	1	0	0	0	2820	1291	45	2	1424	2	CCDC18	1	93672782	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	8174160	93672782	155577839	10	35846											
WDR47	22911	broad.mit.edu	37	chr1	109538250	109538250	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaaggtatgtgatttgttGatccaggattacgaggagtg	12	12	14	3	1	0	2	0	2	0	0	1	6	1	4	1	3	1	2	1	3	4	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:109538250G>C	ENST00000357672.3	-	7	1934	c.1559C>G	c.(1558-1560)tCa>tGa	p.S520*	WDR47_ENST00000361054.3_Nonsense_Mutation_p.S520*|WDR47_ENST00000369962.3_Nonsense_Mutation_p.S548*|WDR47_ENST00000400794.3_Nonsense_Mutation_p.S556*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.S549*			O94967	WDR47_HUMAN	WD repeat domain 47	548										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GTGATTTGTTGATCCAGGATT	0.373													37	235					0	0	0	0	C	109538250	G	C	109538250	4	2	201	1	0	0	0	0	0	1	0	0	17396	1294	45	2	1148	2	WDR47	1	109538250	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	15865468	109538250	139712371	11	35847											
PTPN22	26191	broad.mit.edu	37	chr1	114397643	114397643	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catggtctggccaattcttgTaatgaaactggtagatagtt	11	14	10	6	0	2	2	0	1	2	1	2	2	2	2	1	3	1	3	1	3	5	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:114397643T>C	ENST00000359785.5	-	8	704	c.569A>G	c.(568-570)tAc>tGc	p.Y190C	PTPN22_ENST00000528414.1_Missense_Mutation_p.Y190C|PTPN22_ENST00000420377.2_Missense_Mutation_p.Y190C|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Intron|PTPN22_ENST00000525799.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	190	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAATTCTTGTAATGAAACTG	0.438													30	36					0	0	0	0	C	114397643	T	C	114397643	3	2	201	1	0	0	0	0	1	0	0	0	12869	1638	57	5	1933	5	PTPN22	1	114397643	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	4859393	114397643	134852978	12	35848											
HIST2H2BF	440689	broad.mit.edu	37	chr1	149783712	149783712	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcccatggccttggacGagatgccggtgtcggggtgg	5	9	18	9	3	0	2	0	1	0	1	1	4	0	3	3	6	2	0	3	6	0	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:149783712G>T	ENST00000427880.2	-	1	213	c.167C>A	c.(166-168)tCg>tAg	p.S56*	HIST2H2BF_ENST00000545683.1_Nonsense_Mutation_p.S56*|HIST2H2BF_ENST00000369167.1_Nonsense_Mutation_p.S56*|HIST2H2BF_ENST00000469483.1_5'UTR			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	56					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GGCCTTGGACGAGATGCCGGT	0.607													134	313					5.71173e-70	9.27572e-70	1	0	T	149783712	G	T	149783712	4	4	201	1	0	0	0	0	0	1	0	0	7230	1059	37	3	634	3	HIST2H2BF	1	149783712	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	35386069	149783712	99466909	13	35849											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859080	149859080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaagcctcttaattacttGttcttgccaggcttgtgact	7	16	8	10	0	3	1	1	1	2	0	3	1	3	1	2	1	3	2	2	1	3	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:149859080G>T	ENST00000331128.3	-	1	386	c.387C>A	c.(385-387)aaC>aaA	p.N129K		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	129					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TTAATTACTTGTTCTTGCCAG	0.498													67	86					7.59065e-32	1.15115e-31	1	0	T	149859080	G	T	149859080	3	4	201	1	0	0	0	0	1	0	0	0	7227	1368	48	4	9	4	HIST2H2AB	1	149859080	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	75368	149859080	99391541	14	35850											
FLG	2312	broad.mit.edu	37	chr1	152275982	152275982	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcatcagaccttccctGggatgtggtgtggctgtgat	6	11	16	8	0	1	2	1	1	0	1	2	4	2	4	2	5	0	2	2	5	0	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:152275982G>A	ENST00000368799.1	-	3	11415	c.11380C>T	c.(11380-11382)Cag>Tag	p.Q3794*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3794	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTTCCCTGGGATGTGGTG	0.572									Ichthyosis				331	646					0	0	0	0	A	152275982	G	A	152275982	4	1	201	1	0	0	0	0	0	1	0	0	5967	1357	47	4	809	4	FLG	1	152275982	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	2416902	152275982	96974639	15	35851											
FLG	2312	broad.mit.edu	37	chr1	152283008	152283008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtctgtccgtgtgtggactCagactgttcatgagagctca	8	12	12	9	1	4	2	3	1	1	2	5	4	5	3	1	1	1	2	1	1	0	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:152283008C>G	ENST00000368799.1	-	3	4389	c.4354G>C	c.(4354-4356)Gag>Cag	p.E1452Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1452	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTGGACTCAGACTGTTCA	0.572									Ichthyosis				10	608					0	0	0	0	G	152283008	C	G	152283008	3	3	201	1	0	0	0	0	1	0	0	0	5967	835	29	2	7835	2	FLG	1	152283008	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	7026	152283008	96967613	16	35852											
JTB	10899	broad.mit.edu	37	chr1	153949693	153949710	+	In_Frame_Del	DEL	CTGGGGGAGGCCAGGCCT	CTGGGGGAGGCCAGGCCT	-																															aaccagcagaggtggcggccCtgggggaggccaggcctccc																										TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:153949693_153949710delCTGGGGGAGGCCAGGCCT	ENST00000271843.4	-	1	454_471	c.19_36delAGGCCTGGCCTCCCCCAG	c.(19-36)del	p.RPGLPQ7del	JTB_ENST00000356648.1_5'UTR|JTB_ENST00000368589.1_5'UTR|JTB_ENST00000471173.1_5'UTR	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	7					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	p.P8P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGTGGCGGCCCTGGGGGAGGCCAGGCCTCCCGGCACCC	0.638													18	153	---	---	---	---					-	153949710	CTGGGGGAGGCCAGGCCT	-	153949693	7	5	201	1	0	1	0	1	0	0	0	0	8020	680	24	0	424	0	JTB	1	153949693	In_Frame_Del	DEL	CTGGGGGAGGCCAGGCCT	TCGA-CR-7374-01A-11D-2012-08	1666685	153949693	95300928	17	35853											
C1orf85	112770	broad.mit.edu	37	chr1	156263979	156263979	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggtgtctgctgtgtgcaGgaggcgagggggttgggctg	5	9	21	6	1	1	0	0	0	1	0	1	2	1	1	0	6	2	4	0	6	0	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:156263979G>C	ENST00000362007.1	-	4	654	c.628C>G	c.(628-630)Ctg>Gtg	p.L210V	C1orf85_ENST00000368264.1_Missense_Mutation_p.L124V|C1orf85_ENST00000472870.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	210					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GCTGTGTGCAGGAGGCGAGGG	0.607													15	80					0	0	0	0	C	156263979	G	C	156263979	3	2	201	1	0	0	0	0	1	0	0	0	2082	991	35	4	604	4	C1orf85	1	156263979	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	2314286	156263979	92986642	18	35854											
CD5L	922	broad.mit.edu	37	chr1	157803289	157803289	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtctcctcctactagtctCaagtcaaagggatctgcagg	9	12	9	11	0	4	0	2	0	3	0	7	1	5	1	2	2	2	1	2	2	4	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:157803289C>G	ENST00000368174.4	-	5	828	c.732G>C	c.(730-732)ttG>ttC	p.L244F		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	244	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTACTAGTCTCAAGTCAAAGG	0.478													4	208					0	0	0	0	G	157803289	C	G	157803289	3	3	201	1	0	0	0	0	1	0	0	0	3056	825	29	2	319	2	CD5L	1	157803289	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	1539310	157803289	91447332	19	35855											
OR10X1	128367	broad.mit.edu	37	chr1	158549486	158549486	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggggtgtggagggacctGtccacccaagttagacccat	10	8	13	10	0	0	1	0	0	0	1	1	3	1	3	4	4	0	1	4	4	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:158549486G>C	ENST00000368150.1	-	1	203	c.204C>G	c.(202-204)gaC>gaG	p.D68E		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGAGGGACCTGTCCACCCAAG	0.478													41	109					0	0	0	0	C	158549486	G	C	158549486	3	2	201	1	0	0	0	0	1	0	0	0	10993	1368	48	4	771	4	OR10X1	1	158549486	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	746197	158549486	90701135	20	35856											
OR6K6	128371	broad.mit.edu	37	chr1	158725260	158725260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgagcttggcctgcacaGatacattcctagtggtcatt	8	13	10	10	0	1	2	1	1	0	1	2	2	2	2	2	2	4	3	2	2	2	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:158725260G>A	ENST00000368144.2	+	1	751	c.655G>A	c.(655-657)Gat>Aat	p.D219N		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GGCCTGCACAGATACATTCCT	0.473													36	104					0	0	0	0	A	158725260	G	A	158725260	3	1	201	1	0	0	0	0	1	0	0	0	11275	942	33	2	657	2	OR6K6	1	158725260	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	175774	158725260	90525361	21	35857											
COPA	1314	broad.mit.edu	37	chr1	160264643	160264662	+	Splice_Site	DEL	CTTCCCTACAGAGGGAAGGA	CTTCCCTACAGAGGGAAGGA	-																															tcagcagccagtgctcctccCttccctacagagggaaggaa																										TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:160264643_160264662delCTTCCCTACAGAGGGAAGGA	ENST00000241704.7	-	24	2706_2710	c.2476_splice	c.e24-1	p.826_splice	COPA_ENST00000368069.3_Splice_Site_p.835_splice	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	826					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTCCTCCCTTCCCTACAGAGGGAAGGAACAGAACGGA	0.491													16	100	---	---	---	---					-	160264662	CTTCCCTACAGAGGGAAGGA	-	160264643	8	5	201	1	0	1	0	1	0	0	1	0	3757	680	24	0	1233	0	COPA	1	160264643	Splice_Site	DEL	CTTCCCTACAGAGGGAAGGA	TCGA-CR-7374-01A-11D-2012-08	1539383	160264643	88985978	22	35858											
MPZL1	9019	broad.mit.edu	37	chr1	167742587	167742587	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctatagaaggaaaaactCtaaacgggattacactgggt	15	9	9	8	1	2	1	0	0	2	1	2	3	2	3	1	3	3	0	1	3	8	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:167742587C>G	ENST00000359523.2	+	4	789	c.587C>G	c.(586-588)tCt>tGt	p.S196C	MPZL1_ENST00000392121.3_Intron|MPZL1_ENST00000474859.1_Missense_Mutation_p.S196C	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	196					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					AGGAAAAACTCTAAACGGGAT	0.438													7	106					0	0	0	0	G	167742587	C	G	167742587	3	3	201	1	0	0	0	0	1	0	0	0	9819	913	32	2	601	2	MPZL1	1	167742587	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	7477944	167742587	81508034	23	35859											
F5	2153	broad.mit.edu	37	chr1	169510654	169510654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatgggcatctgaccgaggGctggggaaaggtttctctga	10	9	15	7	1	2	2	0	2	2	0	3	4	2	3	1	5	0	3	1	5	2	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:169510654G>T	ENST00000367796.3	-	13	3890	c.3689C>A	c.(3688-3690)gCc>gAc	p.A1230D	F5_ENST00000367797.3_Missense_Mutation_p.A1225D			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1225	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGACCGAGGGCTGGGGAAAG	0.532													204	448					6.2134e-80	1.0118e-79	1	0	T	169510654	G	T	169510654	3	4	201	1	0	0	0	0	1	0	0	0	5386	1203	42	4	3052	4	F5	1	169510654	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	1768067	169510654	79739967	24	35860											
PIGR	5284	broad.mit.edu	37	chr1	207110641	207110641	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccccagggtgttgacgaCcacgtcacagttttccccac	7	10	8	16	2	1	1	1	1	0	0	3	2	3	1	5	1	0	2	5	1	0	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:207110641C>A	ENST00000356495.4	-	4	1027	c.844G>T	c.(844-846)Gtc>Ttc	p.V282F		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	282	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTGTTGACGACCACGTCACAG	0.602													39	96					1.07121e-22	1.5648e-22	1	0	A	207110641	C	A	207110641	3	1	201	1	0	0	0	0	1	0	0	0	11969	507	18	4	1482	4	PIGR	1	207110641	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	37599987	207110641	42139980	25	35861											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209933400	209933400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatcatgatcagcccagacCccaggccctcccctggcttg	7	8	8	18	0	3	2	3	1	0	1	4	2	4	2	6	2	1	1	6	2	0	1	rs151094826		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:209933400C>T	ENST00000367024.1	+	3	532	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.P6S|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.P6S|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.P6S|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.P6S			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	6						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CAGCCCAGACCCCAGGCCCTC	0.602													18	50					0	0	0	0	T	209933400	C	T	209933400	3	4	201	1	0	0	0	0	1	0	0	0	16537	623	22	4	18	4	TRAF3IP3	1	209933400	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	2822759	209933400	39317221	26	35862											
USH2A	7399	broad.mit.edu	37	chr1	215848133	215848133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggcggtgaccaacataCattcatttgagtggcactga	10	11	12	8	1	1	3	1	3	0	0	1	3	1	3	1	3	2	1	1	3	2	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:215848133C>T	ENST00000366943.2	-	63	13506	c.13120G>A	c.(13120-13122)Gta>Ata	p.V4374I	USH2A_ENST00000307340.3_Missense_Mutation_p.V4374I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4374	Fibronectin type-III 29.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACCAACATACATTCATTTGA	0.488										HNSCC(13;0.011)			27	61					0	0	0	0	T	215848133	C	T	215848133	3	4	201	1	0	0	0	0	1	0	0	0	17132	478	17	4	2528	4	USH2A	1	215848133	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	5914733	215848133	33402488	27	35863											
USH2A	7399	broad.mit.edu	37	chr1	216052268	216052268	+	Frame_Shift_Del	DEL	C	C	-																															accctccaaggtacccattaCcccctgagcaagcaacaatg																								rs148433761		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:216052268delC	ENST00000366943.2	-	42	8782	c.8396delG	c.(8395-8397)gtfs	p.G2799fs	USH2A_ENST00000307340.3_Frame_Shift_Del_p.G2799fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2799	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTACCCATTACCCCCTGAGCA	0.443										HNSCC(13;0.011)			76	154	---	---	---	---					-	216052268	C	-	216052268	7	5	201	1	0	1	0	1	0	0	0	0	17132	507	18	0	7336	0	USH2A	1	216052268	Frame_Shift_Del	DEL	C	TCGA-CR-7374-01A-11D-2012-08	204135	216052268	33198353	28	35864											
ESRRG	2104	broad.mit.edu	37	chr1	216850476	216850476	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgatgctaccccatagtgGtacccagaagcgatgtcacc	11	8	9	13	1	1	2	1	1	0	1	1	3	1	2	4	1	4	2	4	1	4	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:216850476G>C	ENST00000391890.3	-	4	862	c.345C>G	c.(343-345)taC>taG	p.Y115*	ESRRG_ENST00000366937.1_Nonsense_Mutation_p.Y143*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000408911.3_Nonsense_Mutation_p.Y138*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000493603.1_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.Y115*	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	138					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CCCCATAGTGGTACCCAGAAG	0.498													56	138					0	0	0	0	C	216850476	G	C	216850476	4	2	201	1	0	0	0	0	0	1	0	0	5300	1256	44	4	986	4	ESRRG	1	216850476	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	798208	216850476	32400145	29	35865											
LBR	3930	broad.mit.edu	37	chr1	225598118	225598118	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcaccaagttaataaccaCctgaaacaaaaggggaaagt	19	6	7	9	0	1	1	1	1	0	0	1	2	1	2	3	2	2	1	3	2	7	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:225598118C>A	ENST00000338179.2	-	10	1314	c.1188_splice	c.e10-1	p.V397_splice	LBR_ENST00000272163.4_Splice_Site_p.V397_splice	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	397					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTAATAACCACCTGAAACAAA	0.448													41	83					1.47197e-15	2.00754e-15	1	0	A	225598118	C	A	225598118	5	1	201	1	0	0	0	0	0	0	1	0	8705	521	18	4	678	4	LBR	1	225598118	Splice_Site	SNP	C	TCGA-CR-7374-01A-11D-2012-08	8747642	225598118	23652503	30	35866											
TTC13	79573	broad.mit.edu	37	chr1	231069578	231069578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaagtcaactttctgcttCaaagcttctttgaaggattc	12	15	6	8	0	4	1	2	1	2	0	5	2	4	2	0	1	3	2	0	1	5	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:231069578C>G	ENST00000366661.4	-	9	937	c.930G>C	c.(928-930)ttG>ttC	p.L310F	TTC13_ENST00000366662.4_Missense_Mutation_p.L257F|TTC13_ENST00000414259.1_Missense_Mutation_p.L257F	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	310							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTTTCTGCTTCAAAGCTTCTT	0.328													21	88					0	0	0	0	G	231069578	C	G	231069578	3	3	201	1	0	0	0	0	1	0	0	0	16776	825	29	2	1712	2	TTC13	1	231069578	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	5471460	231069578	18181043	31	35867											
HEATR1	55127	broad.mit.edu	37	chr1	236724551	236724551	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggccttttaaaatctcAggaccaccactctcaactac	13	10	4	14	0	3	0	3	0	2	0	5	1	3	1	3	2	2	0	3	2	5	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:236724551A>G	ENST00000366582.3	-	33	4734	c.4620T>C	c.(4618-4620)ccT>ccC	p.P1540P	HEATR1_ENST00000366581.2_Silent_p.P1459P	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1540					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTAAAATCTCAGGACCACCAC	0.333													3	148					0	0	0	0	G	236724551	A	G	236724551	2	3	201	1	0	0	0	0	0	0	0	1	7077	175	7	5		5	HEATR1	1	236724551	Silent	SNP	A	TCGA-CR-7374-01A-11D-2012-08	5654973	236724551	12526070	32	35868											
RYR2	6262	broad.mit.edu	37	chr1	237951342	237951342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagacaagggcaaacaaaaGttgaggcagcttcacacaca	18	4	10	9	0	1	2	1	1	0	1	1	3	1	2	0	2	2	4	0	2	5	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:237951342G>T	ENST00000366574.2	+	92	13700	c.13383G>T	c.(13381-13383)aaG>aaT	p.K4461N	RYR2_ENST00000542537.1_Missense_Mutation_p.K4445N|RYR2_ENST00000360064.6_Missense_Mutation_p.K4467N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4461					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCAAACAAAAGTTGAGGCAGC	0.398													13	18					9.31168e-06	1.17331e-05	1	0	T	237951342	G	T	237951342	3	4	201	1	0	0	0	0	1	0	0	0	13854	1020	36	4	13749	4	RYR2	1	237951342	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	1226791	237951342	11299279	33	35869											
FMN2	56776	broad.mit.edu	37	chr1	240256603	240256603	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcggccgcttccctgccCggcagccccgcgcctagcca	3	4	11	23	6	0	0	0	0	0	0	1	0	1	0	8	2	3	2	8	2	1	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:240256603C>A	ENST00000319653.9	+	1	1424	c.1194C>A	c.(1192-1194)ccC>ccA	p.P398P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	398					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTTCCCTGCCCGGCAGCCCCG	0.706													36	76					3.03874e-20	4.33275e-20	1	0	A	240256603	C	A	240256603	2	1	201	1	0	0	0	0	0	0	0	1	5995	639	23	3		3	FMN2	1	240256603	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	2305261	240256603	8994018	34	35870											
FMN2	56776	broad.mit.edu	37	chr1	240371048	240371048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaggaatacctcctccacCccctctacccggagcgggca	9	5	9	18	2	1	0	0	0	1	0	3	2	3	2	6	3	4	2	6	3	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:240371048C>A	ENST00000319653.9	+	5	3166	c.2936C>A	c.(2935-2937)cCc>cAc	p.P979H		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	979	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCCTCCACCCCCTCTACCC	0.716													36	52					2.6416e-12	3.53003e-12	1	0	A	240371048	C	A	240371048	3	1	201	1	0	0	0	0	1	0	0	0	5995	623	22	4	2954	4	FMN2	1	240371048	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	114445	240371048	8879573	35	35871											
FMN2	56776	broad.mit.edu	37	chr1	240635698	240635698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagccgaagaggtgtgtaGacagaagaaaggaaaatcac	19	4	13	5	1	1	5	1	0	0	5	1	7	1	6	1	2	1	1	1	2	7	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:240635698G>A	ENST00000319653.9	+	17	5317	c.5087G>A	c.(5086-5088)aGa>aAa	p.R1696K	FMN2_ENST00000496950.1_3'UTR|AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000543681.1_Missense_Mutation_p.R16K|FMN2_ENST00000545751.1_Missense_Mutation_p.R292K	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1696	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGTGTGTAGACAGAAGAAA	0.328													23	76					0	0	0	0	A	240635698	G	A	240635698	3	1	201	1	0	0	0	0	1	0	0	0	5995	942	33	2	5153	2	FMN2	1	240635698	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	264650	240635698	8614923	36	35872											
RGS7	6000	broad.mit.edu	37	chr1	241519074	241519074	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataattattcccctgggcCatgtcacccaaaacttggtc	10	11	6	14	0	1	0	1	0	0	0	3	0	2	0	5	2	1	0	5	2	4	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:241519074C>A	ENST00000366565.1	-	2	384	c.3G>T	c.(1-3)atG>atT	p.M1I	RGS7_ENST00000366562.4_Start_Codon_SNP_p.M1I|RGS7_ENST00000366563.1_Start_Codon_SNP_p.M1I|RGS7_ENST00000366564.1_Start_Codon_SNP_p.M1I|RGS7_ENST00000348120.2_Start_Codon_SNP_p.M1I|RGS7_ENST00000407727.1_Start_Codon_SNP_p.M1I|RGS7_ENST00000401882.1_Start_Codon_SNP_p.M1I	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	1					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCCCCTGGGCCATGTCACCCA	0.498													42	91					4.67007e-22	6.78868e-22	1	0	A	241519074	C	A	241519074	1	1	201	1	0	0	0	0	0	0	0	0	13393	594	21	4		4	RGS7	1	241519074	Translation_Start_Site	SNP	C	TCGA-CR-7374-01A-11D-2012-08	883376	241519074	7731547	37	35873											
OR2W5	441932	broad.mit.edu	37	chr1	247655015	247655015	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggaaaccatgctggtaGaagcgattcacctttgccct	10	10	11	10	1	1	2	1	1	0	1	1	4	1	3	3	2	4	2	3	2	3	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:247655015G>T	ENST00000522351.1	+	0	646							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CATGCTGGTAGAAGCGATTCA	0.587													81	146					4.41824e-40	7.00338e-40	1	0	T	247655015	G	T	247655015	1	4	201	0	1	0	0	0	0	0	0	0	11105	943	33	2		2	OR2W5	1	247655015	RNA	SNP	G	TCGA-CR-7374-01A-11D-2012-08	6135941	247655015	1595606	38	35874											
OR2C3	81472	broad.mit.edu	37	chr1	247695641	247695641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaagaagtacataggtGtgtggaggtgcacatctgta	14	9	13	5	0	1	2	0	0	1	2	1	3	1	3	0	3	2	3	0	3	6	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:247695641G>T	ENST00000366487.3	-	2	534	c.173C>A	c.(172-174)aCa>aAa	p.T58K	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GTACATAGGTGTGTGGAGGTG	0.488													53	92					1.11015e-26	1.65412e-26	1	0	T	247695641	G	T	247695641	3	4	201	1	0	0	0	0	1	0	0	0	11064	1377	48	4	793	4	OR2C3	1	247695641	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	40626	247695641	1554980	39	35875											
TRIM58	25893	broad.mit.edu	37	chr1	248039588	248039588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttggactatgaagccGgtgaaatttcattctacaat	11	16	7	7	1	3	2	1	2	2	0	3	3	3	3	1	2	2	0	1	2	5	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:248039588G>A	ENST00000366481.3	+	6	1306	c.1258G>A	c.(1258-1260)Ggt>Agt	p.G420S	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	420	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTATGAAGCCGGTGAAATTTC	0.448													124	220					0	0	0	0	A	248039588	G	A	248039588	3	1	201	1	0	0	0	0	1	0	0	0	16626	1116	39	1	1280	1	TRIM58	1	248039588	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	343947	248039588	1211033	40	35876											
OR2AK2	391191	broad.mit.edu	37	chr1	248129228	248129228	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgtgaagttccagctCtactatcattggtgtgtcag	7	17	9	8	0	4	1	2	1	2	0	5	1	5	1	1	1	2	2	1	1	3	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:248129228C>A	ENST00000366480.3	+	1	694	c.595C>A	c.(595-597)Cta>Ata	p.L199I	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGTTCCAGCTCTACTATCATT	0.428													12	114					3.07112e-06	3.89444e-06	1	0	A	248129228	C	A	248129228	3	1	201	1	0	0	0	0	1	0	0	0	11057	912	32	2	597	2	OR2AK2	1	248129228	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	89640	248129228	1121393	41	35877											
OR2T4	127074	broad.mit.edu	37	chr1	248525904	248525904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatgttaacagtggaacCtgcctttcaaaaagctatgg	15	10	9	7	0	1	0	1	0	0	0	1	2	1	1	2	2	4	2	2	2	7	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:248525904C>T	ENST00000366475.1	+	1	1022	c.1022C>T	c.(1021-1023)cCt>cTt	p.P341L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	341					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGTGGAACCTGCCTTTCAA	0.393													5	238					0	0	0	0	T	248525904	C	T	248525904	3	4	201	1	0	0	0	0	1	0	0	0	11098	681	24	4	1024	4	OR2T4	1	248525904	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	396676	248525904	724717	42	35878											
OR2T27	403239	broad.mit.edu	37	chr1	248813773	248813773	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcaaccagcagatcttgCggctcatgaggacaggatag	13	7	11	10	1	3	2	2	1	1	1	3	4	3	4	1	3	3	2	1	3	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:248813773C>G	ENST00000344889.3	-	1	412	c.413G>C	c.(412-414)cGc>cCc	p.R138P		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R138L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGATCTTGCGGCTCATGAG	0.557													50	128					0	0	0	0	G	248813773	C	G	248813773	3	3	201	1	0	0	0	0	1	0	0	0	11092	768	27	3	543	3	OR2T27	1	248813773	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	287869	248813773	436848	43	35879											
NTSR2	23620	broad.mit.edu	37	chr2	11809734	11809734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagttcgtgcttctgcccCatgatgacggccatgggcag	6	10	13	12	3	1	2	0	2	1	0	3	3	1	2	3	2	2	3	3	2	0	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:11809734C>A	ENST00000306928.5	-	1	556	c.522G>T	c.(520-522)atG>atT	p.M174I		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	174					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCTTCTGCCCCATGATGACGG	0.721													19	14					2.94398e-08	3.79787e-08	1	0	A	11809734	C	A	11809734	3	1	201	1	0	0	0	0	1	0	0	0	10782	594	21	4	726	4	NTSR2	2	11809734	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08		11809734	231389639	44	35880											
ITSN2	50618	broad.mit.edu	37	chr2	24507701	24507701	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaagaacagagtcatcCatattcccacactgtaagat	15	9	6	11	0	1	4	1	1	0	3	3	4	3	4	2	0	1	1	2	0	4	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:24507701C>G	ENST00000355123.4	-	17	2318	c.1875G>C	c.(1873-1875)atG>atC	p.M625I	ITSN2_ENST00000406921.3_Missense_Mutation_p.M625I|ITSN2_ENST00000361999.3_Intron	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	625					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAGTCATCCATATTCCCAC	0.328													34	50					0	0	0	0	G	24507701	C	G	24507701	3	3	201	1	0	0	0	0	1	0	0	0	7980	594	21	4	3365	4	ITSN2	2	24507701	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	12697967	24507701	218691672	45	35881											
UGP2	7360	broad.mit.edu	37	chr2	64085024	64085024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagatttttgcaagaaaaggGgccttctgtggattggggaa	11	12	14	4	0	1	2	0	0	1	2	1	4	1	4	1	5	1	1	1	5	5	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:64085024G>T	ENST00000337130.5	+	3	685	c.209G>T	c.(208-210)gGg>gTg	p.G70V	UGP2_ENST00000445915.2_Missense_Mutation_p.G79V|UGP2_ENST00000394417.2_Missense_Mutation_p.G59V|UGP2_ENST00000487469.1_Intron|UGP2_ENST00000467648.2_Missense_Mutation_p.G59V	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	70					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CAAGAAAAGGGGCCTTCTGTG	0.403													118	271					3.21087e-66	5.20022e-66	1	0	T	64085024	G	T	64085024	3	4	201	1	0	0	0	0	1	0	0	0	17039	1232	43	4	219	4	UGP2	2	64085024	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	39577323	64085024	179114349	46	35882											
ANKRD53	79998	broad.mit.edu	37	chr2	71206951	71206951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccaccgtggccctcccctGcatctactacctgctggaga	7	8	8	18	1	1	1	0	0	1	1	2	2	2	1	6	2	4	2	6	2	2	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:71206951G>T	ENST00000272421.6	+	3	844	c.578G>T	c.(577-579)tGc>tTc	p.C193F	ANKRD53_ENST00000360589.3_Missense_Mutation_p.C193F|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000457410.1_Missense_Mutation_p.C159F|ANKRD53_ENST00000441349.1_Missense_Mutation_p.C159F	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	193										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						GCCCTCCCCTGCATCTACTAC	0.602													36	76					4.3949e-29	6.59788e-29	1	0	T	71206951	G	T	71206951	3	4	201	1	0	0	0	0	1	0	0	0	678	1319	46	4	588	4	ANKRD53	2	71206951	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	7121927	71206951	171992422	47	35883											
REG1A	5967	broad.mit.edu	37	chr2	79349251	79349251	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccatgaccccaaaaaGgtaggctgcagccttcttta	10	9	9	13	0	1	1	0	1	1	0	2	1	2	1	5	3	2	3	5	3	4	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:79349251G>T	ENST00000233735.1	+	4	424	c.321_splice	c.e4+1	p.K107_splice		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	107	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ACCCCAAAAAGGTAGGCTGCA	0.488													41	80					1.96642e-18	2.7319e-18	1	0	T	79349251	G	T	79349251	5	4	201	1	0	0	0	0	0	0	1	0	13292	1014	35	4	331	4	REG1A	2	79349251	Splice_Site	SNP	G	TCGA-CR-7374-01A-11D-2012-08	8142300	79349251	163850122	48	35884											
REG3A	5068	broad.mit.edu	37	chr2	79386513	79386513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccaagatacactgggcaGggccatgggaggcagcatag	12	5	14	10	0	0	1	0	0	0	1	1	2	1	2	2	4	2	3	2	4	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:79386513G>T	ENST00000393878.1	-	1	273	c.19C>A	c.(19-21)Ctg>Atg	p.L7M	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Missense_Mutation_p.L7M|REG3A_ENST00000305165.2_Missense_Mutation_p.L7M	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	7					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ACACTGGGCAGGGCCATGGGA	0.532													24	83					1.38267e-23	2.03474e-23	1	0	T	79386513	G	T	79386513	3	4	201	1	0	0	0	0	1	0	0	0	13294	991	35	4	528	4	REG3A	2	79386513	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	37262	79386513	163812860	49	35885											
CTNNA2	1496	broad.mit.edu	37	chr2	80874994	80874994	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagcaatggattccttCtaggacgataggttttaaca	13	13	8	7	1	2	0	1	0	1	0	3	3	3	2	1	3	2	2	1	3	5	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:80874994C>A	ENST00000466387.1	+	22	3439	c.2715C>A	c.(2713-2715)ttC>ttA	p.F905L	CTNNA2_ENST00000402739.4_Missense_Mutation_p.F953L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.F860L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.F905L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.F939L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.F905L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.F584L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	953					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGATTCCTTCTAGGACGATA	0.378													74	147					9.88329e-16	1.35102e-15	1	0	A	80874994	C	A	80874994	3	1	201	1	0	0	0	0	1	0	0	0	4045	912	32	2	2573	2	CTNNA2	2	80874994	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	1488481	80874994	162324379	50	35886											
FABP1	2168	broad.mit.edu	37	chr2	88424028	88424028	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacattggtgattatgtcGccgttgagttcggtcacaga	8	14	11	8	3	1	3	1	2	0	1	3	3	1	3	1	2	1	2	1	2	2	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:88424028G>A	ENST00000393750.3	-	3	349	c.318C>T	c.(316-318)ggC>ggT	p.G106G	FABP1_ENST00000295834.3_Silent_p.G106G|FABP1_ENST00000495375.1_5'UTR			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	106					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TGATTATGTCGCCGTTGAGTT	0.522													40	75					0	0	0	0	A	88424028	G	A	88424028	2	1	201	1	0	0	0	0	0	0	0	1	5396	1074	38	1		1	FABP1	2	88424028	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	7549034	88424028	154775345	51	35887											
MITD1	129531	broad.mit.edu	37	chr2	99787024	99787024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctcggtcatgtattgaaGaagagtattgaacttccaac	12	14	8	7	1	2	4	1	2	1	2	4	4	3	4	1	1	2	2	1	1	6	6	rs144672860		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:99787024G>A	ENST00000289359.2	-	5	645	c.569C>T	c.(568-570)tCt>tTt	p.S190F	MRPL30_ENST00000410042.1_Intron|MITD1_ENST00000466880.1_5'UTR	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	190					protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						ATGTATTGAAGAAGAGTATTG	0.333													105	264					0	0	0	0	A	99787024	G	A	99787024	3	1	201	1	0	0	0	0	1	0	0	0	9664	942	33	2	192	2	MITD1	2	99787024	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	11362996	99787024	143412349	52	35888											
DPP10	57628	broad.mit.edu	37	chr2	116257182	116257182	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggaaaacacaacttttgTaagtaatgaataattaatta	19	14	5	3	0	0	1	0	1	0	0	0	2	0	2	0	1	2	2	0	1	9	8			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:116257182T>A	ENST00000410059.1	+	4	846		c.e4+2		DPP10_ENST00000393147.2_Splice_Site|DPP10_ENST00000409163.1_Splice_Site|DPP10_ENST00000310323.8_Splice_Site|DPP10_ENST00000488208.1_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)						proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACAACTTTTGTAAGTAATGAA	0.313													21	37					0	0	0	0	A	116257182	T	A	116257182	5	1	201	1	0	0	0	0	0	0	1	0	4763	1652	57	5	553	5	DPP10	2	116257182	Splice_Site	SNP	T	TCGA-CR-7374-01A-11D-2012-08	16470158	116257182	126942191	53	35889											
IMP4	92856	broad.mit.edu	37	chr2	131100699	131100699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgccgcgagtacctgtaccGcaaggcccgggaggaggcgc	7	3	17	14	6	0	0	0	0	0	0	0	3	0	2	4	4	2	3	4	4	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:131100699G>T	ENST00000259239.3	+	2	752	c.44G>T	c.(43-45)cGc>cTc	p.R15L	IMP4_ENST00000409935.1_Missense_Mutation_p.R15L	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	15	Arg-rich.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					TACCTGTACCGCAAGGCCCGG	0.736													6	12					0.000157383	0.000195826	1	0	T	131100699	G	T	131100699	3	4	201	1	0	0	0	0	1	0	0	0	7773	1087	38	3	50	3	IMP4	2	131100699	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	14843517	131100699	112098674	54	35890											
LRP1B	53353	broad.mit.edu	37	chr2	141032165	141032165	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaatagtggtggcacaCgtctaggaaaaaaaggcaca	17	5	10	9	1	1	0	0	0	1	0	1	1	1	1	0	4	0	2	0	4	6	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:141032165C>A	ENST00000389484.3	-	85	13941	c.12970G>T	c.(12970-12972)Gtg>Ttg	p.V4324L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4324	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V4324L(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGTGGCACACGTCTAGGAAA	0.353										TSP Lung(27;0.18)			21	36					0.000132079	0.000165029	1	0	A	141032165	C	A	141032165	3	1	201	1	0	0	0	0	1	0	0	0	9019	536	19	3	857	3	LRP1B	2	141032165	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	9931466	141032165	102167208	55	35891											
ARHGAP15	55843	broad.mit.edu	37	chr2	143986215	143986215	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaattttacaaagaatccaAgcaacaggctctgtccaata	16	10	6	9	0	1	2	0	1	1	1	3	2	3	2	2	1	3	2	2	1	8	3	rs150643555		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:143986215A>G	ENST00000409869.1	+	6	539	c.362A>G	c.(361-363)aAg>aGg	p.K121R	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.K121R			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	121	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAAGAATCCAAGCAACAGGCT	0.299													37	62					0	0	0	0	G	143986215	A	G	143986215	3	3	201	1	0	0	0	0	1	0	0	0	868	72	3	5	376	5	ARHGAP15	2	143986215	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	2954050	143986215	99213158	56	35892											
SCN1A	6323	broad.mit.edu	37	chr2	166847776	166847776	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttccctttggctttttcAtctttgccttcttgctcatg	3	22	5	11	0	4	0	2	0	2	0	5	0	5	0	2	1	2	2	2	1	1	8			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:166847776A>T	ENST00000423058.2	-	26	6026	c.6009T>A	c.(6007-6009)gaT>gaA	p.D2003E	SCN1A_ENST00000409050.1_Missense_Mutation_p.D1975E|SCN1A_ENST00000303395.4_Missense_Mutation_p.D2003E|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1992E	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	2003						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGGCTTTTTCATCTTTGCCTT	0.383													28	43					0	0	0	0	T	166847776	A	T	166847776	3	4	201	1	0	0	0	0	1	0	0	0	14001	214	8	5	24	5	SCN1A	2	166847776	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	22861561	166847776	76351597	57	35893											
SCN9A	6335	broad.mit.edu	37	chr2	167056097	167056097	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaatcatactgttgccAaaggtctcaaaattgaacat	16	10	7	8	0	2	1	2	1	1	0	3	1	2	1	1	2	3	2	1	2	6	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:167056097A>G	ENST00000375387.4	-	27	5395	c.5055T>C	c.(5053-5055)ttT>ttC	p.F1685F	SCN9A_ENST00000409435.1_Silent_p.F1684F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.F1673F|SCN9A_ENST00000303354.6_Silent_p.F1685F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1684						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TACTGTTGCCAAAGGTCTCAA	0.423													97	277					0	0	0	0	G	167056097	A	G	167056097	2	3	201	1	0	0	0	0	0	0	0	1	14012	127	5	5		5	SCN9A	2	167056097	Silent	SNP	A	TCGA-CR-7374-01A-11D-2012-08	208321	167056097	76143276	58	35894											
XIRP2	129446	broad.mit.edu	37	chr2	168103763	168103763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgctaaagctgtgatggCaggatcctcgggagagcaga	12	7	15	7	1	0	4	0	1	0	3	2	6	1	5	1	3	3	4	1	3	2	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:168103763C>A	ENST00000409195.1	+	9	5950	c.5861C>A	c.(5860-5862)gCa>gAa	p.A1954E	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A1954E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A1732E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1779					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						GCTGTGATGGCAGGATCCTCG	0.423													19	66					0.000132079	0.000165029	1	0	A	168103763	C	A	168103763	3	1	201	1	0	0	0	0	1	0	0	0	17526	710	25	4	5891	4	XIRP2	2	168103763	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	1047666	168103763	75095610	59	35895											
XIRP2	129446	broad.mit.edu	37	chr2	168107805	168107805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatccgcaaggttgcagtGcctcctcgcctgtcagagca	8	9	10	14	2	2	1	2	0	0	1	5	1	4	1	4	1	3	4	4	1	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:168107805G>A	ENST00000409195.1	+	9	9992	c.9903G>A	c.(9901-9903)gtG>gtA	p.V3301V	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.V3301V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V3079V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3126					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						AGGTTGCAGTGCCTCCTCGCC	0.438													54	144					0	0	0	0	A	168107805	G	A	168107805	2	1	201	1	0	0	0	0	0	0	0	1	17526	1306	46	4		4	XIRP2	2	168107805	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	4042	168107805	75091568	60	35896											
XIRP2	129446	broad.mit.edu	37	chr2	168115224	168115224	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctgaataattgcaggcAgaagacatctattttagaat	16	13	7	5	0	2	4	0	1	2	3	2	4	2	4	0	1	1	2	0	1	7	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:168115224A>G	ENST00000409728.1	+	11	2356	c.2267A>G	c.(2266-2268)cAg>cGg	p.Q756R	XIRP2_ENST00000409756.2_Missense_Mutation_p.Q723R|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.Q501R|XIRP2_ENST00000409043.1_Missense_Mutation_p.Q723R|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.Q756R|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1274					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						AATTGCAGGCAGAAGACATCT	0.299													19	60					0	0	0	0	G	168115224	A	G	168115224	3	3	201	1	0	0	0	0	1	0	0	0	17526	188	7	5	11585	5	XIRP2	2	168115224	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	7419	168115224	75084149	61	35897											
MYO3B	140469	broad.mit.edu	37	chr2	171260886	171260886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggaaagtcggtttcccCaagcaactgaccagaccctg	12	7	10	12	1	0	3	0	2	0	1	2	4	1	4	4	2	2	2	4	2	3	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:171260886C>A	ENST00000334231.6	+	20	2434	c.2434C>A	c.(2434-2436)Caa>Aaa	p.Q812K	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.Q803K|MYO3B_ENST00000409044.3_Missense_Mutation_p.Q803K			Q8WXR4	MYO3B_HUMAN	myosin IIIB	803	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCGGTTTCCCCAAGCAACTGA	0.468													36	72					1.36161e-19	1.92761e-19	1	0	A	171260886	C	A	171260886	3	1	201	1	0	0	0	0	1	0	0	0	10147	595	21	4	2485	4	MYO3B	2	171260886	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	3145662	171260886	71938487	62	35898											
TTN	7273	broad.mit.edu	37	chr2	179452324	179452324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattttcctgagtcatcacGggtagaattggggatgacaa	12	12	11	6	1	2	3	2	2	0	1	3	4	3	4	1	3	0	1	1	3	4	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:179452324G>A	ENST00000589042.1	-	306	63936	c.63712C>T	c.(63712-63714)Cgt>Tgt	p.R21238C	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19597C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18670C|TTN_ENST00000342175.6_Missense_Mutation_p.R12365C|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12173C|TTN_ENST00000359218.5_Missense_Mutation_p.R12298C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19597	Fibronectin type-III 54.						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)			GAGTCATCACGGGTAGAATTG	0.413													17	63					0	0	0	0	A	179452324	G	A	179452324	3	1	201	1	0	0	0	0	1	0	0	0	16831	1116	39	1	44495	1	TTN	2	179452324	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	8191438	179452324	63747049	63	35899											
TTN	7273	broad.mit.edu	37	chr2	179469614	179469614	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacagcaagatttcttggtgGggatgggcggtctggaaagg	10	9	17	5	1	2	1	0	0	2	1	2	3	2	3	0	7	2	1	0	7	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:179469614G>C	ENST00000589042.1	-	281	54426	c.54202C>G	c.(54202-54204)Cca>Gca	p.P18068A	TTN_ENST00000591111.1_Missense_Mutation_p.P16427A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P15500A|TTN_ENST00000342175.6_Missense_Mutation_p.P9195A|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P9003A|TTN_ENST00000359218.5_Missense_Mutation_p.P9128A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16427	Fibronectin type-III 31.						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)			TTTCTTGGTGGGGATGGGCGG	0.423													56	133					0	0	0	0	C	179469614	G	C	179469614	3	2	201	1	0	0	0	0	1	0	0	0	16831	1232	43	4	53819	4	TTN	2	179469614	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	17290	179469614	63729759	64	35900											
ZNF385B	151126	broad.mit.edu	37	chr2	180308165	180308165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctggggccaaaggctTcatcatatctttctggaatg	10	11	12	8	0	4	0	2	0	2	0	4	2	4	1	1	5	0	2	1	5	4	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:180308165T>C	ENST00000410066.1	-	10	1831	c.1228A>G	c.(1228-1230)Aag>Gag	p.K410E	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_Missense_Mutation_p.K308E|ZNF385B_ENST00000409343.1_Missense_Mutation_p.K334E|ZNF385B_ENST00000409692.1_Missense_Mutation_p.K308E	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	410						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCCAAAGGCTTCATCATATCT	0.562													8	28					0	0	0	0	C	180308165	T	C	180308165	3	2	201	1	0	0	0	0	1	0	0	0	17972	1792	62	5	191	5	ZNF385B	2	180308165	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	838551	180308165	62891208	65	35901											
ZNF385B	151126	broad.mit.edu	37	chr2	180383318	180383318	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcttctttgggggaatGgatactccaaatgtatggtt	8	17	11	5	0	2	0	0	0	2	0	3	2	3	2	1	4	1	3	1	4	4	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:180383318G>T	ENST00000410066.1	-	5	1047	c.444C>A	c.(442-444)tcC>tcA	p.S148S	ZNF385B_ENST00000409692.1_Silent_p.S46S|ZNF385B_ENST00000409343.1_Silent_p.S72S|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_Silent_p.S46S	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	148						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TTGGGGGAATGGATACTCCAA	0.343													72	126					4.38973e-58	7.07102e-58	1	0	T	180383318	G	T	180383318	2	4	201	1	0	0	0	0	0	0	0	1	17972	1335	47	4		4	ZNF385B	2	180383318	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	75153	180383318	62816055	66	35902											
ZNF804A	91752	broad.mit.edu	37	chr2	185801142	185801142	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaataccactagagagtgTtgttattaatgaagacatac	16	12	7	6	0	1	3	1	1	0	2	1	4	1	3	1	0	2	2	1	0	7	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:185801142T>C	ENST00000302277.6	+	4	1613	c.1019T>C	c.(1018-1020)gTt>gCt	p.V340A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	340						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTAGAGAGTGTTGTTATTAAT	0.333													36	80					0	0	0	0	C	185801142	T	C	185801142	3	2	201	1	0	0	0	0	1	0	0	0	18263	1725	60	5	1033	5	ZNF804A	2	185801142	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	5417824	185801142	57398231	67	35903											
ANKRD44	91526	broad.mit.edu	37	chr2	197863757	197863757	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccacatgatcagcaaatgCtgccgcatgaaggggtgtcc	10	8	11	12	1	1	2	1	2	0	0	3	2	3	2	3	2	3	3	3	2	2	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:197863757C>A	ENST00000328737.2	-	24	2540	c.2464G>T	c.(2464-2466)Gca>Tca	p.A822S	ANKRD44_ENST00000450567.1_Missense_Mutation_p.A822S|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A839S|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A822S			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	847							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCAGCAAATGCTGCCGCATGA	0.438													18	87					5.35267e-07	6.8459e-07	1	0	A	197863757	C	A	197863757	3	1	201	1	0	0	0	0	1	0	0	0	671	797	28	4	307	4	ANKRD44	2	197863757	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	12062615	197863757	45335616	68	35904											
ALS2	57679	broad.mit.edu	37	chr2	202575803	202575803	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccaaactctctagtgtctGagtctgtgaacgactcagta	10	13	8	10	1	4	2	1	2	3	0	6	3	5	2	1	0	2	1	1	0	4	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:202575803G>C	ENST00000264276.6	-	26	4405	c.4033C>G	c.(4033-4035)Cag>Gag	p.Q1345E	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1345					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCTAGTGTCTGAGTCTGTGAA	0.363													27	102					0	0	0	0	C	202575803	G	C	202575803	3	2	201	1	0	0	0	0	1	0	0	0	550	1299	45	2	976	2	ALS2	2	202575803	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	4712046	202575803	40623570	69	35905											
PIKFYVE	200576	broad.mit.edu	37	chr2	209180091	209180091	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccgtcagtttgtccacatCaaaaaagtgagctctgctaa	13	11	7	10	1	3	1	2	1	1	0	5	1	5	1	2	0	2	3	2	0	4	2	rs35180719		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:209180091C>T	ENST00000264380.4	+	15	2159	c.2001C>T	c.(1999-2001)atC>atT	p.I667I		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	667					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGTCCACATCAAAAAAGTGA	0.418													13	29					0	0	0	0	T	209180091	C	T	209180091	2	4	201	1	0	0	0	0	0	0	0	1	11996	816	29	2		2	PIKFYVE	2	209180091	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	6604288	209180091	34019282	70	35906											
MYL1	4632	broad.mit.edu	37	chr2	211163191	211163191	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctgacctctgcattggtgGgatttgtgcccagagctcga	6	12	12	11	1	1	2	0	1	1	1	3	4	2	3	3	2	3	2	3	2	0	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:211163191G>C	ENST00000352451.3	-	3	404	c.257C>G	c.(256-258)cCc>cGc	p.P86R	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Missense_Mutation_p.P42R	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	86					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TGCATTGGTGGGATTTGTGCC	0.478													57	72					0	0	0	0	C	211163191	G	C	211163191	3	2	201	1	0	0	0	0	1	0	0	0	10113	1232	43	4	343	4	MYL1	2	211163191	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	1983100	211163191	32036182	71	35907											
ERBB4	2066	broad.mit.edu	37	chr2	212589868	212589868	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggcagcagtcactgacgTaaggtccgtagcatctgccg	9	8	13	11	3	2	1	1	1	1	0	3	2	3	1	2	2	3	5	2	2	2	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:212589868T>A	ENST00000342788.4	-	6	984	c.674A>T	c.(673-675)tAc>tTc	p.Y225F	ERBB4_ENST00000436443.1_Missense_Mutation_p.Y225F|ERBB4_ENST00000402597.1_Missense_Mutation_p.Y225F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	225	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTCACTGACGTAAGGTCCGTA	0.493										TSP Lung(8;0.080)			41	47					0	0	0	0	A	212589868	T	A	212589868	3	1	201	1	0	0	0	0	1	0	0	0	5247	1638	57	5	3344	5	ERBB4	2	212589868	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	1426677	212589868	30609505	72	35908											
FN1	2335	broad.mit.edu	37	chr2	216269263	216269263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcctgggctgtcctcttcgGgtaaggcccacggtcagtcg	4	10	14	13	3	2	0	1	0	1	0	5	0	3	0	3	4	1	2	3	4	1	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:216269263G>A	ENST00000354785.4	-	20	3471	c.3102C>T	c.(3100-3102)acC>acT	p.T1034T	FN1_ENST00000421182.1_Silent_p.T1034T|FN1_ENST00000359671.1_Silent_p.T1034T|FN1_ENST00000357867.4_Silent_p.T1034T|FN1_ENST00000357009.2_Silent_p.T1034T|FN1_ENST00000356005.4_Silent_p.T1034T|FN1_ENST00000346544.3_Silent_p.T1034T|FN1_ENST00000345488.5_Silent_p.T1034T|FN1_ENST00000336916.4_Silent_p.T1034T|FN1_ENST00000323926.6_Silent_p.T1034T|FN1_ENST00000446046.1_Silent_p.T1034T|FN1_ENST00000443816.1_Silent_p.T1034T|FN1_ENST00000432072.2_Silent_p.T1034T			P02751	FINC_HUMAN	fibronectin 1	1034	Fibronectin type-III 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCCTCTTCGGGTAAGGCCCA	0.547													45	50					0	0	0	0	A	216269263	G	A	216269263	2	1	201	1	0	0	0	0	0	0	0	1	6007	1219	43	4		4	FN1	2	216269263	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	3679395	216269263	26930110	73	35909											
RNPEPL1	57140	broad.mit.edu	37	chr2	241514540	241514540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctgcggagacccacagcGctttgatgactttctccgag	7	10	11	13	3	2	3	0	2	2	1	3	5	2	3	2	1	2	2	2	1	0	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:241514540G>A	ENST00000270357.3	+	7	1282	c.689G>A	c.(688-690)cGc>cAc	p.R230H	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	230					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GACCCACAGCGCTTTGATGAC	0.632													81	75					0	0	0	0	A	241514540	G	A	241514540	3	1	201	1	0	0	0	0	1	0	0	0	13595	1087	38	1	707	1	RNPEPL1	2	241514540	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	25245277	241514540	1684833	74	35910											
HDLBP	3069	broad.mit.edu	37	chr2	242187504	242187504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacaatgtcacttttttGtgctgggtctggaaagttaa	9	15	11	6	0	2	0	1	0	1	0	2	2	2	2	0	3	1	2	0	3	3	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:242187504G>T	ENST00000391975.1	-	14	1872	c.1645C>A	c.(1645-1647)Caa>Aaa	p.Q549K	HDLBP_ENST00000391976.2_Missense_Mutation_p.Q549K|HDLBP_ENST00000310931.4_Missense_Mutation_p.Q549K|HDLBP_ENST00000427183.2_Missense_Mutation_p.Q516K	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	549	KH 6.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	p.Q549*(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TCACTTTTTTGTGCTGGGTCT	0.408													43	37					1.8453e-21	2.66295e-21	1	0	T	242187504	G	T	242187504	3	4	201	1	0	0	0	0	1	0	0	0	7075	1386	48	4	2221	4	HDLBP	2	242187504	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	672964	242187504	1011869	75	35911											
ITPR1	3708	broad.mit.edu	37	chr3	4829703	4829703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatgtgaattcctaaccaagGagtcaaaactacgaatttac	16	11	6	8	1	1	1	1	1	0	0	2	3	2	2	2	1	4	0	2	1	9	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:4829703G>A	ENST00000354582.6	+	51	6993	c.6643G>A	c.(6643-6645)Gag>Aag	p.E2215K	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.E2167K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E2215K|ITPR1_ENST00000423119.2_Missense_Mutation_p.E2182K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E2182K|ITPR1_ENST00000302640.8_Missense_Mutation_p.E2215K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2230					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCTAACCAAGGAGTCAAAACT	0.388													5	38					0	0	0	0	A	4829703	G	A	4829703	3	1	201	1	0	0	0	0	1	0	0	0	7973	1175	41	2	6886	2	ITPR1	3	4829703	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08		4829703	193192727	76	35912											
SYN2	6854	broad.mit.edu	37	chr3	12208791	12208791	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctctgcgatgctggagcaGattgccatgtcagacaggtg	8	9	15	9	1	2	2	1	0	1	2	2	4	2	3	1	3	4	3	1	3	0	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:12208791G>C	ENST00000432424.2	+	0	1210							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TGCTGGAGCAGATTGCCATGT	0.517													6	31					0	0	0	0	C	12208791	G	C	12208791	1	2	201	0	1	0	0	0	0	0	0	0	15532	933	33	2		2	SYN2	3	12208791	RNA	SNP	G	TCGA-CR-7374-01A-11D-2012-08	7379088	12208791	185813639	77	35913											
SLC4A7	9497	broad.mit.edu	37	chr3	27463267	27463267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctcatgaaattcatatCaacctattgacaaataaata	17	15	2	7	0	3	2	3	2	1	0	4	2	3	2	1	0	1	0	1	0	8	8			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:27463267C>T	ENST00000295736.5	-	9	1313	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N	SLC4A7_ENST00000435667.2_Missense_Mutation_p.D300N|SLC4A7_ENST00000388777.4_Intron|SLC4A7_ENST00000455077.1_Missense_Mutation_p.D296N|SLC4A7_ENST00000437179.1_Missense_Mutation_p.D296N|SLC4A7_ENST00000428386.1_Missense_Mutation_p.D291N|SLC4A7_ENST00000445684.1_Missense_Mutation_p.D411N|SLC4A7_ENST00000425128.2_Missense_Mutation_p.D407N|SLC4A7_ENST00000446700.1_Missense_Mutation_p.D407N|SLC4A7_ENST00000440156.1_Missense_Mutation_p.D411N|SLC4A7_ENST00000454389.1_Missense_Mutation_p.D424N	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	415						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AAATTCATATCAACCTATTGA	0.353													50	33					0	0	0	0	T	27463267	C	T	27463267	3	4	201	1	0	0	0	0	1	0	0	0	14746	826	29	2	2469	2	SLC4A7	3	27463267	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	15254476	27463267	170559163	78	35914											
ANO10	55129	broad.mit.edu	37	chr3	43596801	43596801	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatattggctgaaggttctGagaatggacgtttgaagacc	12	11	12	6	1	1	4	0	3	1	2	1	6	1	5	1	3	0	3	1	3	5	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:43596801G>C	ENST00000292246.3	-	10	1807	c.1637C>G	c.(1636-1638)tCa>tGa	p.S546*	ANO10_ENST00000414522.2_Nonsense_Mutation_p.S546*|ANO10_ENST00000451430.2_Nonsense_Mutation_p.S435*|ANO10_ENST00000396091.3_Nonsense_Mutation_p.S480*|ANO10_ENST00000350459.4_Nonsense_Mutation_p.S356*	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	546					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						TGAAGGTTCTGAGAATGGACG	0.353													8	112					0	0	0	0	C	43596801	G	C	43596801	4	2	201	1	0	0	0	0	0	1	0	0	695	1294	45	2	361	2	ANO10	3	43596801	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	16133534	43596801	154425629	79	35915											
LTF	4057	broad.mit.edu	37	chr3	46482938	46482938	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagacagtgacatctttCacaaatgcaacgtctccagc	13	9	7	12	1	3	2	1	1	2	1	4	2	3	2	1	0	4	2	1	0	3	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:46482938C>A	ENST00000231751.4	-	14	1987	c.1692G>T	c.(1690-1692)gtG>gtT	p.V564V	LTF_ENST00000417439.1_Silent_p.V562V|LTF_ENST00000426532.2_Silent_p.V520V|LTF_ENST00000493056.1_5'UTR	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	564	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGACATCTTTCACAAATGCAA	0.403													60	27					2.04494e-18	2.83438e-18	1	0	A	46482938	C	A	46482938	2	1	201	1	0	0	0	0	0	0	0	1	9143	813	29	2		2	LTF	3	46482938	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	2886137	46482938	151539492	80	35916											
NBEAL2	23218	broad.mit.edu	37	chr3	47049354	47049354	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtggcatctacctcatctCaggctcccgggacaccacgt	7	9	9	16	2	3	0	2	0	2	0	5	1	4	1	3	3	1	2	3	3	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:47049354C>G	ENST00000450053.3	+	49	7735	c.7556C>G	c.(7555-7557)tCa>tGa	p.S2519*	NBEAL2_ENST00000383740.2_Nonsense_Mutation_p.S768*|NBEAL2_ENST00000292309.5_Nonsense_Mutation_p.S2335*	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2519							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TACCTCATCTCAGGCTCCCGG	0.632													12	26					0	0	0	0	G	47049354	C	G	47049354	4	3	201	1	0	0	0	0	0	1	0	0	10259	838	29	2	7750	2	NBEAL2	3	47049354	Nonsense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	566416	47049354	150973076	81	35917											
NBEAL2	23218	broad.mit.edu	37	chr3	47049787	47049787	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcaggatggaactgtgatCatacacactgtacgccgcgg	10	8	12	11	3	1	1	1	1	0	0	1	3	1	3	1	3	4	2	1	3	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:47049787C>G	ENST00000450053.3	+	51	7913	c.7734C>G	c.(7732-7734)atC>atG	p.I2578M	NBEAL2_ENST00000383740.2_Missense_Mutation_p.I827M|NBEAL2_ENST00000292309.5_Missense_Mutation_p.I2394M	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2578							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GAACTGTGATCATACACACTG	0.602													9	27					0	0	0	0	G	47049787	C	G	47049787	3	3	201	1	0	0	0	0	1	0	0	0	10259	816	29	2	7936	2	NBEAL2	3	47049787	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	433	47049787	150972643	82	35918											
MAP4	4134	broad.mit.edu	37	chr3	47950644	47950644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcattggttctgccattCtgcttttatcttcctttttc	3	23	4	11	0	4	0	1	0	3	0	6	0	5	0	2	1	2	2	2	1	1	9			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:47950644C>T	ENST00000426837.2	-	10	5405	c.5318G>A	c.(5317-5319)aGa>aAa	p.R1773K	MAP4_ENST00000395734.3_Intron|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000383737.4_Missense_Mutation_p.R356K|MAP4_ENST00000264724.11_Missense_Mutation_p.R363K			P27816	MAP4_HUMAN	microtubule-associated protein 4	637					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TTCTGCCATTCTGCTTTTATC	0.428													7	158					0	0	0	0	T	47950644	C	T	47950644	3	4	201	1	0	0	0	0	1	0	0	0	9327	913	32	2	1774	2	MAP4	3	47950644	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	900857	47950644	150071786	83	35919											
ZMYND10	51364	broad.mit.edu	37	chr3	50380755	50380755	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacctgcatggggttgctgtCctgggatccctccccctcag	4	10	11	16	0	1	0	1	0	0	0	4	1	4	1	5	3	2	3	5	3	0	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:50380755C>G	ENST00000231749.3	-	5	1765	c.493G>C	c.(493-495)Gac>Cac	p.D165H	ZMYND10_ENST00000360165.3_Missense_Mutation_p.D165H|ZMYND10-AS1_ENST00000440013.1_RNA	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	165						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGGTTGCTGTCCTGGGATCCC	0.617										TSP Lung(30;0.18)			21	51					0	0	0	0	G	50380755	C	G	50380755	3	3	201	1	0	0	0	0	1	0	0	0	17800	855	30	2	861	2	ZMYND10	3	50380755	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	2430111	50380755	147641675	84	35920											
LRIG1	26018	broad.mit.edu	37	chr3	66460596	66460596	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagcccttgcggtgaaTgcgagcgatggaattgttgc	7	10	14	10	3	0	1	0	1	0	0	1	4	1	2	2	2	5	2	2	2	2	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:66460596T>C	ENST00000383703.3	-	7	1495	c.892A>G	c.(892-894)Att>Gtt	p.I298V	LRIG1_ENST00000273261.3_Missense_Mutation_p.I298V			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	298						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGCGGTGAATGCGAGCGATG	0.567													141	137					0	0	0	0	C	66460596	T	C	66460596	3	2	201	1	0	0	0	0	1	0	0	0	9008	1464	51	5	2441	5	LRIG1	3	66460596	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	16079841	66460596	131561834	85	35921											
FRMD4B	23150	broad.mit.edu	37	chr3	69239050	69239050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaagagccacttacgatCatcataggtggtggtgtcag	12	9	13	7	1	3	1	3	0	0	1	3	3	3	2	1	4	2	0	1	4	4	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:69239050C>T	ENST00000542259.1	-	19	2057	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	FRMD4B_ENST00000478263.1_Missense_Mutation_p.D242N|FRMD4B_ENST00000398540.3_Missense_Mutation_p.D590N			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	590						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CACTTACGATCATCATAGGTG	0.313													16	27					0	0	0	0	T	69239050	C	T	69239050	3	4	201	1	0	0	0	0	1	0	0	0	6100	826	29	2	1360	2	FRMD4B	3	69239050	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	2778454	69239050	128783380	86	35922											
OR5K3	403277	broad.mit.edu	37	chr3	98109533	98109533	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataaggagaatcactccttGatagctgagttcatcctcac	13	11	7	10	0	3	3	3	2	0	1	5	4	5	3	2	1	1	2	2	1	4	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:98109533G>C	ENST00000383695.1	+	1	24	c.24G>C	c.(22-24)ttG>ttC	p.L8F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L8F(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATCACTCCTTGATAGCTGAGT	0.388													24	73					0	0	0	0	C	98109533	G	C	98109533	3	2	201	1	0	0	0	0	1	0	0	0	11239	1281	45	2	26	2	OR5K3	3	98109533	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	28870483	98109533	99912897	87	35923											
CD200R1	131450	broad.mit.edu	37	chr3	112647682	112647682	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggaagtagctctatgtaCagactcttgttgccagtcaa	11	11	9	10	0	3	1	1	0	2	1	3	2	3	2	2	1	3	4	2	1	5	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:112647682C>A	ENST00000471858.1	-	4	913	c.681G>T	c.(679-681)ctG>ctT	p.L227L	CD200R1_ENST00000308611.3_Silent_p.L250L|CD200R1_ENST00000295863.4_Silent_p.L205L	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	227	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GCTCTATGTACAGACTCTTGT	0.378													20	40					3.62473e-10	4.76896e-10	1	0	A	112647682	C	A	112647682	2	1	201	1	0	0	0	0	0	0	0	1	3010	465	17	4		4	CD200R1	3	112647682	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	14538149	112647682	85374748	88	35924											
TIGIT	201633	broad.mit.edu	37	chr3	114026751	114026751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttttagaagaaagccCtcagaatccattctgtggaa	12	14	8	7	0	2	3	1	0	1	3	3	4	3	4	2	1	1	1	2	1	5	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:114026751C>T	ENST00000481065.1	+	5	3324	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F	TIGIT_ENST00000383671.3_Missense_Mutation_p.L170F|TIGIT_ENST00000496848.1_3'UTR|TIGIT_ENST00000486257.1_Missense_Mutation_p.L170F			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	170					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GAAGAAAGCCCTCAGAATCCA	0.468													21	111					0	0	0	0	T	114026751	C	T	114026751	3	4	201	1	0	0	0	0	1	0	0	0	15996	681	24	4	522	4	TIGIT	3	114026751	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	1379069	114026751	83995679	89	35925											
CASR	846	broad.mit.edu	37	chr3	122003103	122003103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttcatcacgtgccacgagGgctccctcatggccctgggc	5	9	11	16	2	4	0	3	0	1	0	5	1	5	0	3	3	1	1	3	3	0	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:122003103G>T	ENST00000498619.1	+	7	2770	c.2332G>T	c.(2332-2334)Ggc>Tgc	p.G778C	CASR_ENST00000296154.5_Missense_Mutation_p.G768C|CASR_ENST00000490131.1_Missense_Mutation_p.G768C	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	768					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTGCCACGAGGGCTCCCTCAT	0.587													22	44					1.10513e-12	1.48682e-12	1	0	T	122003103	G	T	122003103	3	4	201	1	0	0	0	0	1	0	0	0	2707	1232	43	4	2354	4	CASR	3	122003103	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	7976352	122003103	76019327	90	35926											
KALRN	8997	broad.mit.edu	37	chr3	124390618	124390618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctactcctctgttcctgCgggctcagagaagcccccaa	7	8	9	17	1	2	1	1	0	1	1	4	2	4	1	5	1	3	2	5	1	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:124390618C>T	ENST00000360013.3	+	48	6939	c.6812C>T	c.(6811-6813)gCg>gTg	p.A2271V	KALRN_ENST00000459915.1_Missense_Mutation_p.A363V|KALRN_ENST00000428018.2_Missense_Mutation_p.A542V|KALRN_ENST00000393496.1_Missense_Mutation_p.A612V|KALRN_ENST00000291478.4_Missense_Mutation_p.A574V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2270					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTGTTCCTGCGGGCTCAGAG	0.567													20	151					0	0	0	0	T	124390618	C	T	124390618	3	4	201	1	0	0	0	0	1	0	0	0	8028	768	27	1	7158	1	KALRN	3	124390618	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	2387515	124390618	73631812	91	35927											
CLRN1	7401	broad.mit.edu	37	chr3	150690259	150690259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacatgagaaccgaaagggCcttgctcccaacccacactg	12	7	8	14	1	0	1	0	1	0	1	1	3	1	1	4	1	4	1	4	1	4	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:150690259C>T	ENST00000327047.1	-	1	527	c.237G>A	c.(235-237)agG>agA	p.R79R	CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Silent_p.R79R|RP11-166N6.2_ENST00000469268.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	79					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACCGAAAGGGCCTTGCTCCCA	0.473													56	164					0	0	0	0	T	150690259	C	T	150690259	2	4	201	1	0	0	0	0	0	0	0	1	3587	738	26	4		4	CLRN1	3	150690259	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	26299641	150690259	47332171	92	35928											
IFT80	57560	broad.mit.edu	37	chr3	160099294	160099294	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttatttaaaacttaccatCagaacttgtgaggacaaagc	15	12	7	7	0	1	2	1	1	0	1	1	3	1	3	1	1	4	1	1	1	6	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:160099294C>G	ENST00000326448.7	-	3	688	c.256G>C	c.(256-258)Gat>Cat	p.D86H	IFT80_ENST00000496589.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	86						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACTTACCATCAGAACTTGTG	0.328													15	106					0	0	0	0	G	160099294	C	G	160099294	3	3	201	1	0	0	0	0	1	0	0	0	7617	826	29	2	2149	2	IFT80	3	160099294	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	9409035	160099294	37923136	93	35929											
SMC4	10051	broad.mit.edu	37	chr3	160120573	160120573	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataagatctaaaaaactctCagtattaatacataattctg	19	13	3	6	0	3	1	1	0	3	1	4	1	3	1	0	0	2	1	0	0	9	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:160120573C>A	ENST00000357388.3	+	4	879	c.428C>A	c.(427-429)tCa>tAa	p.S143*	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Nonsense_Mutation_p.S143*|SMC4_ENST00000344722.5_Nonsense_Mutation_p.S143*|SMC4_ENST00000469762.1_Nonsense_Mutation_p.S118*|SMC4_ENST00000360111.2_Nonsense_Mutation_p.S143*	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	143					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAAAACTCTCAGTATTAATA	0.323													8	262					0.000274275	0.000339145	1	0	A	160120573	C	A	160120573	4	1	201	1	0	0	0	0	0	1	0	0	14873	838	29	2	438	2	SMC4	3	160120573	Nonsense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	21279	160120573	37901857	94	35930											
MYNN	55892	broad.mit.edu	37	chr3	169492266	169492266	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcacttctgagaacaatgtCtttcttgatcagagtcaggt	11	13	9	8	0	5	3	2	2	3	2	5	4	5	3	0	1	2	1	0	1	2	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:169492266C>G	ENST00000349841.5	+	2	846	c.183C>G	c.(181-183)gtC>gtG	p.V61V	MYNN_ENST00000392733.1_Silent_p.V61V|MYNN_ENST00000356716.4_Silent_p.V61V|MYNN_ENST00000544106.1_Silent_p.V61V	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	61	BTB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AGAACAATGTCTTTCTTGATC	0.388													5	380					0	0	0	0	G	169492266	C	G	169492266	2	3	201	1	0	0	0	0	0	0	0	1	10131	900	32	2		2	MYNN	3	169492266	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	9371693	169492266	28530164	95	35931											
NAALADL2	254827	broad.mit.edu	37	chr3	174814867	174814867	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgactacattacccattatAcacgatctgcaccaaagagc	14	9	5	13	1	1	2	0	1	1	1	1	3	1	2	2	0	5	1	2	0	5	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:174814867A>T	ENST00000454872.1	+	2	459	c.331A>T	c.(331-333)Aca>Tca	p.T111S	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	111					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TACCCATTATACACGATCTGC	0.388													58	233					0	0	0	0	T	174814867	A	T	174814867	3	4	201	1	0	0	0	0	1	0	0	0	10200	391	14	5	337	5	NAALADL2	3	174814867	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	5322601	174814867	23207563	96	35932											
NAALADL2	254827	broad.mit.edu	37	chr3	174951960	174951960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccaagacctgctctattCatatgcagcctattctgcca	10	11	6	14	0	3	1	1	0	2	1	3	1	3	1	4	0	5	2	4	0	4	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:174951960C>T	ENST00000454872.1	+	3	913	c.785C>T	c.(784-786)tCa>tTa	p.S262L	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	262					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTGCTCTATTCATATGCAGCC	0.428													26	146					0	0	0	0	T	174951960	C	T	174951960	3	4	201	1	0	0	0	0	1	0	0	0	10200	838	29	2	795	2	NAALADL2	3	174951960	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	137093	174951960	23070470	97	35933											
PIK3CA	5290	broad.mit.edu	37	chr3	178921521	178921521	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttataaatagtgcactcAgaataaaaattctttgtgca	15	13	8	5	0	2	1	1	0	1	1	2	1	2	1	0	1	2	3	0	1	8	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:178921521A>G	ENST00000263967.3	+	5	1160	c.1003A>G	c.(1003-1005)Aga>Gga	p.R335G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	335					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAGTGCACTCAGAATAAAAAT	0.313		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			40	317					0	0	0	0	G	178921521	A	G	178921521	3	3	201	1	0	0	0	0	1	0	0	0	11985	180	7	5	1017	5	PIK3CA	3	178921521	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	3969561	178921521	19100909	98	35934											
MCCC1	56922	broad.mit.edu	37	chr3	182790247	182790247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaaattccatgttttctGagagaaaaccgcatcctgga	13	10	8	10	1	1	2	0	1	1	1	3	4	3	3	3	1	2	3	3	1	3	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:182790247G>A	ENST00000492597.1	-	4	773	c.71C>T	c.(70-72)tCa>tTa	p.S24L	MCCC1_ENST00000265594.4_Missense_Mutation_p.S133L|MCCC1_ENST00000539926.1_5'UTR			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	133					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CATGTTTTCTGAGAGAAAACC	0.383													14	228					0	0	0	0	A	182790247	G	A	182790247	3	1	201	1	0	0	0	0	1	0	0	0	9443	1294	45	2	1839	2	MCCC1	3	182790247	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	3868726	182790247	15232183	99	35935											
PAK2	5062	broad.mit.edu	37	chr3	196509690	196509690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaatcatctccatattctCaggcacagagaaaggtaaat	17	10	6	8	0	3	1	2	0	2	1	5	2	3	1	1	2	0	2	1	2	6	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:196509690C>T	ENST00000327134.3	+	2	495	c.173C>T	c.(172-174)tCa>tTa	p.S58L		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	58					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TCCATATTCTCAGGCACAGAG	0.413													32	377					0	0	0	0	T	196509690	C	T	196509690	3	4	201	1	0	0	0	0	1	0	0	0	11472	838	29	2	175	2	PAK2	3	196509690	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	13719443	196509690	1512740	100	35936											
DLG1	1739	broad.mit.edu	37	chr3	196846384	196846384	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgggctaacatggttatCaacaggctgagaagaagctt	14	9	12	6	0	1	3	1	1	0	3	1	4	1	3	0	3	3	4	0	3	5	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:196846384C>G	ENST00000346964.2	-	13	1471	c.1282G>C	c.(1282-1284)Gat>Cat	p.D428H	DLG1_ENST00000314062.3_Missense_Mutation_p.D377H|DLG1_ENST00000419354.1_Missense_Mutation_p.D428H|DLG1_ENST00000450955.1_Missense_Mutation_p.D395H|DLG1_ENST00000422288.1_Missense_Mutation_p.D377H|DLG1_ENST00000452595.1_Missense_Mutation_p.D312H|DLG1_ENST00000392382.2_Missense_Mutation_p.D395H|DLG1_ENST00000357674.4_Missense_Mutation_p.D395H|DLG1_ENST00000443183.1_Missense_Mutation_p.D312H|DLG1_ENST00000448528.2_Missense_Mutation_p.D428H	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	428					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ACATGGTTATCAACAGGCTGA	0.388													13	146					0	0	0	0	G	196846384	C	G	196846384	3	3	201	1	0	0	0	0	1	0	0	0	4591	826	29	2	1592	2	DLG1	3	196846384	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	336694	196846384	1176046	101	35937											
LPHN3	23284	broad.mit.edu	37	chr4	62778453	62778453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcttcagaaaagagagcGctcttgcagagcctatgtcc	11	9	10	11	1	3	3	2	0	1	3	4	4	4	3	2	0	4	3	2	0	3	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:62778453G>A	ENST00000512091.1	+	12	2633	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	LPHN3_ENST00000514157.1_Missense_Mutation_p.R629H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R629H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R697H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R697H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R629H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R697H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R697H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R629H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R697H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R629H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R697H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R629H|LPHN3_ENST00000514591.1_Missense_Mutation_p.R629H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R697H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	623					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R629H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAAAGAGAGCGCTCTTGCAGA	0.363													50	51					0	0	0	0	A	62778453	G	A	62778453	3	1	201	1	0	0	0	0	1	0	0	0	8981	1087	38	1	1924	1	LPHN3	4	62778453	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08		62778453	128375823	102	35938											
SLC4A4	8671	broad.mit.edu	37	chr4	72205125	72205125	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatccgattcatcttgggaGaggaggatgacagcccagct	10	8	13	10	1	2	2	1	1	1	1	3	6	3	4	2	3	2	2	2	3	0	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:72205125G>C	ENST00000340595.3	+	1	356	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	SLC4A4_ENST00000264485.5_Missense_Mutation_p.E98Q|SLC4A4_ENST00000512686.1_Missense_Mutation_p.E54Q|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.E98Q|SLC4A4_ENST00000425175.1_Missense_Mutation_p.E98Q	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	98						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CATCTTGGGAGAGGAGGATGA	0.552													23	212					0	0	0	0	C	72205125	G	C	72205125	3	2	201	1	0	0	0	0	1	0	0	0	14744	943	33	2	423	2	SLC4A4	4	72205125	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	9426672	72205125	118949151	103	35939											
ADAMTS3	9508	broad.mit.edu	37	chr4	73280591	73280591	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttctacagctgatctcttgTagacaacatgaatccttcct	10	14	6	11	0	2	3	0	2	2	1	5	3	4	3	2	0	3	3	2	0	4	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:73280591T>A	ENST00000286657.4	-	4	638	c.602A>T	c.(601-603)tAc>tTc	p.Y201F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	201					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATCTCTTGTAGACAACATG	0.373													44	48					0	0	0	0	A	73280591	T	A	73280591	3	1	201	1	0	0	0	0	1	0	0	0	267	1638	57	5	3091	5	ADAMTS3	4	73280591	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	1075466	73280591	117873685	104	35940											
FRAS1	80144	broad.mit.edu	37	chr4	79285132	79285132	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcctcatgtgacaccaacctCgtgctgtcccacactggcac	8	9	7	17	1	1	1	1	1	0	0	4	1	3	1	4	1	2	2	4	1	1	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:79285132C>G	ENST00000264895.6	+	22	3086	c.2646C>G	c.(2644-2646)ctC>ctG	p.L882L	FRAS1_ENST00000325942.6_Silent_p.L882L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	882					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L882L(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACACCAACCTCGTGCTGTCCC	0.527													4	29					0	0	0	0	G	79285132	C	G	79285132	2	3	201	1	0	0	0	0	0	0	0	1	6089	871	31	3		3	FRAS1	4	79285132	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	6004541	79285132	111869144	105	35941											
DMP1	1758	broad.mit.edu	37	chr4	88584164	88584164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgaatccagtgagagcCtcaacttctcagaggaaagc	14	6	10	11	1	2	2	2	1	1	2	4	5	3	3	2	1	4	0	2	1	3	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:88584164C>T	ENST00000339673.6	+	6	1333	c.1234C>T	c.(1234-1236)Ctc>Ttc	p.L412F	RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.L396F|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	412					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CAGTGAGAGCCTCAACTTCTC	0.572													58	59					0	0	0	0	T	88584164	C	T	88584164	3	4	201	1	0	0	0	0	1	0	0	0	4620	681	24	4	1252	4	DMP1	4	88584164	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	9299032	88584164	102570112	106	35942											
CENPE	1062	broad.mit.edu	37	chr4	104068734	104068734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taataactccagttcattcaTtgtttcctgagtctcactga	10	16	5	10	0	3	2	3	2	1	0	6	2	5	2	2	0	1	2	2	0	2	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:104068734T>C	ENST00000265148.3	-	29	4002	c.3913A>G	c.(3913-3915)Atg>Gtg	p.M1305V	CENPE_ENST00000380026.3_Missense_Mutation_p.M1280V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1305					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGTTCATTCATTGTTTCCTGA	0.388													44	40					0	0	0	0	C	104068734	T	C	104068734	3	2	201	1	0	0	0	0	1	0	0	0	3259	1493	52	5	4276	5	CENPE	4	104068734	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	15484570	104068734	87085542	107	35943											
COL25A1	84570	broad.mit.edu	37	chr4	109822296	109822296	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaggtcctggtattccattCtgtcctactgctccaggcaa	7	14	8	12	0	1	0	0	0	1	0	5	0	5	0	4	3	2	3	4	3	4	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:109822296C>T	ENST00000399132.1	-	14	1343	c.813G>A	c.(811-813)caG>caA	p.Q271Q	COL25A1_ENST00000399126.1_Silent_p.Q271Q|COL25A1_ENST00000399127.1_Silent_p.Q267Q	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	271	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GTATTCCATTCTGTCCTACTG	0.348													15	50					0	0	0	0	T	109822296	C	T	109822296	2	4	201	1	0	0	0	0	0	0	0	1	3714	912	32	2		2	COL25A1	4	109822296	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	5753562	109822296	81331980	108	35944											
KIAA1109	84162	broad.mit.edu	37	chr4	123155982	123155982	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataagaggtgtagaaacaaAtgtggttgtctcggtggctg	12	11	14	4	1	1	2	0	0	1	2	2	2	1	2	0	4	1	3	0	4	5	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:123155982A>G	ENST00000264501.4	+	27	3751	c.3378A>G	c.(3376-3378)aaA>aaG	p.K1126K	KIAA1109_ENST00000388738.3_Silent_p.K1126K|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Silent_p.K1126K			Q2LD37	K1109_HUMAN	KIAA1109	1126					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTAGAAACAAATGTGGTTGTC	0.393													50	54					0	0	0	0	G	123155982	A	G	123155982	2	3	201	1	0	0	0	0	0	0	0	1	8259	98	4	5		5	KIAA1109	4	123155982	Silent	SNP	A	TCGA-CR-7374-01A-11D-2012-08	13333686	123155982	67998294	109	35945											
SPATA5	166378	broad.mit.edu	37	chr4	123855336	123855336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaagtattgcgagtgaaagGggcagatggcatgatattgg	12	9	16	4	1	0	3	0	2	0	1	0	4	0	3	0	4	1	4	0	4	4	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:123855336G>T	ENST00000274008.3	+	5	659	c.590G>T	c.(589-591)gGg>gTg	p.G197V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	197					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CGAGTGAAAGGGGCAGATGGC	0.463													30	42					1.80694e-10	2.3932e-10	1	0	T	123855336	G	T	123855336	3	4	201	1	0	0	0	0	1	0	0	0	15101	1232	43	4	608	4	SPATA5	4	123855336	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	699354	123855336	67298940	110	35946											
HSPA4L	22824	broad.mit.edu	37	chr4	128741604	128741604	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctgtctcagacaaacaaGaccgattaaatcagacactt	16	8	6	11	1	2	3	2	0	1	3	3	4	2	3	1	0	2	1	1	0	4	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:128741604G>C	ENST00000296464.3	+	14	2107	c.1696G>C	c.(1696-1698)Gac>Cac	p.D566H	HSPA4L_ENST00000505726.1_Missense_Mutation_p.D540H|HSPA4L_ENST00000508776.1_Missense_Mutation_p.D566H|HSPA4L_ENST00000515262.1_3'UTR|HSPA4L_ENST00000439123.2_Missense_Mutation_p.D597H	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	566					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGACAAACAAGACCGATTAAA	0.338													14	27					0	0	0	0	C	128741604	G	C	128741604	3	2	201	1	0	0	0	0	1	0	0	0	7465	942	33	2	1750	2	HSPA4L	4	128741604	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	4886268	128741604	62412672	111	35947											
HSPA4L	22824	broad.mit.edu	37	chr4	128743942	128743942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaagatgatcatgcaaGataagttagagaaagaaaga	20	6	13	2	0	1	6	1	1	0	5	1	8	1	7	0	2	1	2	0	2	6	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:128743942G>T	ENST00000296464.3	+	15	2242	c.1831G>T	c.(1831-1833)Gat>Tat	p.D611Y	HSPA4L_ENST00000505726.1_Missense_Mutation_p.D585Y|HSPA4L_ENST00000508776.1_Missense_Mutation_p.D611Y|HSPA4L_ENST00000439123.2_Missense_Mutation_p.D642Y	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	611					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATCATGCAAGATAAGTTAGA	0.348													16	26					4.7546e-09	6.20075e-09	1	0	T	128743942	G	T	128743942	3	4	201	1	0	0	0	0	1	0	0	0	7465	942	33	2	1889	2	HSPA4L	4	128743942	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	2338	128743942	62410334	112	35948											
HSPA4L	22824	broad.mit.edu	37	chr4	128748493	128748493	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctattcaaatgaagtacatgGagcatgaagagagaccaaaa	19	7	9	6	0	1	4	1	2	0	2	1	6	1	5	1	1	2	2	1	1	7	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:128748493G>C	ENST00000296464.3	+	17	2491	c.2080G>C	c.(2080-2082)Gag>Cag	p.E694Q	HSPA4L_ENST00000505726.1_Missense_Mutation_p.E668Q|HSPA4L_ENST00000508776.1_Missense_Mutation_p.E694Q|HSPA4L_ENST00000439123.2_Missense_Mutation_p.E725Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	694					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GAAGTACATGGAGCATGAAGA	0.318													21	53					0	0	0	0	C	128748493	G	C	128748493	3	2	201	1	0	0	0	0	1	0	0	0	7465	1175	41	2	2146	2	HSPA4L	4	128748493	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	4551	128748493	62405783	113	35949											
MFSD8	256471	broad.mit.edu	37	chr4	128865017	128865017	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgccacggaaatcaagatgGagacaataagaggctctttt	14	9	10	8	1	2	3	1	0	1	3	2	5	2	4	1	3	1	1	1	3	4	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:128865017G>C	ENST00000296468.3	-	5	456	c.329C>G	c.(328-330)tCc>tGc	p.S110C	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.S65C|MFSD8_ENST00000541133.1_Missense_Mutation_p.S65C	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	110					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AATCAAGATGGAGACAATAAG	0.423													3	75					0	0	0	0	C	128865017	G	C	128865017	3	2	201	1	0	0	0	0	1	0	0	0	9607	1174	41	2	1263	2	MFSD8	4	128865017	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	116524	128865017	62289259	114	35950											
NPY1R	4886	broad.mit.edu	37	chr4	164247211	164247211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaaagaagaagccacagCaaggacccaaatcacagcaa	20	1	9	11	0	1	2	1	0	0	2	1	3	1	3	2	2	3	3	2	2	6	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:164247211C>T	ENST00000296533.2	-	2	1027	c.496G>A	c.(496-498)Gct>Act	p.A166T	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	166					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAAGCCACAGCAAGGACCCAA	0.433													30	39					0	0	0	0	T	164247211	C	T	164247211	3	4	201	1	0	0	0	0	1	0	0	0	10679	710	25	4	666	4	NPY1R	4	164247211	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	35382194	164247211	26907065	115	35951											
GPM6A	2823	broad.mit.edu	37	chr4	176573001	176573001	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaaactgacgaaggtcCaagcagagatttgctccctc	12	9	8	12	1	0	2	0	1	0	1	3	4	2	2	3	1	4	2	3	1	4	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:176573001C>T	ENST00000280187.7	-	5	570	c.525G>A	c.(523-525)ttG>ttA	p.L175L	GPM6A_ENST00000515090.1_Silent_p.L168L|GPM6A_ENST00000393658.2_Silent_p.L175L|GPM6A_ENST00000506894.1_Silent_p.L164L	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	175						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GACGAAGGTCCAAGCAGAGAT	0.438													10	141					0	0	0	0	T	176573001	C	T	176573001	2	4	201	1	0	0	0	0	0	0	0	1	6664	593	21	4		4	GPM6A	4	176573001	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	12325790	176573001	14581275	116	35952											
FAT1	2195	broad.mit.edu	37	chr4	187521277	187521277	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acttcttccatgccttgttcCctgctgacggatgtggccac	5	13	9	14	1	1	1	0	1	1	0	3	2	3	2	4	2	2	2	4	2	0	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:187521277C>A	ENST00000441802.2	-	22	12087	c.11878G>T	c.(11878-11880)Gga>Tga	p.G3960*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3960	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCCTTGTTCCCTGCTGACGG	0.483										HNSCC(5;0.00058)			60	70					6.09941e-20	8.676e-20	1	0	A	187521277	C	A	187521277	4	1	201	1	0	0	0	0	0	1	0	0	5734	632	22	4	1912	4	FAT1	4	187521277	Nonsense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	10948276	187521277	3632999	117	35953											
SEMA5A	9037	broad.mit.edu	37	chr5	9066745	9066745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggacacgggttggtgttgCaagactggtactcctgggga	8	9	16	8	1	0	1	0	0	0	1	1	3	1	3	1	6	2	4	1	6	2	3	rs140646095		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:9066745C>A	ENST00000382496.5	-	17	2752	c.2087G>T	c.(2086-2088)tGc>tTc	p.C696F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	696	TSP type-1 3.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTTGGTGTTGCAAGACTGGTA	0.537													78	178					4.63251e-29	6.93712e-29	1	0	A	9066745	C	A	9066745	3	1	201	1	0	0	0	0	1	0	0	0	14124	710	25	4	1165	4	SEMA5A	5	9066745	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08		9066745	171848515	118	35954											
CTNND2	1501	broad.mit.edu	37	chr5	11023077	11023077	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcctgtggactaggtctcGcatggcgtatttgcctggaa	8	11	13	9	2	1	0	0	0	1	0	2	2	1	2	2	4	2	2	2	4	4	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:11023077G>A	ENST00000304623.8	-	17	2992	c.2803C>T	c.(2803-2805)Cga>Tga	p.R935*	CTNND2_ENST00000359640.2_Nonsense_Mutation_p.R877*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.R598*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.R844*|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.R502*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	935					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTAGGTCTCGCATGGCGTAT	0.512													63	74					0	0	0	0	A	11023077	G	A	11023077	4	1	201	1	0	0	0	0	0	1	0	0	4052	1095	38	1	898	1	CTNND2	5	11023077	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	1956332	11023077	169892183	119	35955											
CTNND2	1501	broad.mit.edu	37	chr5	11346514	11346514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatgctatcaatggacGgggacctggccaaggtgcct	9	9	13	10	1	2	1	1	1	1	0	2	3	2	3	3	5	2	1	3	5	4	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:11346514G>T	ENST00000304623.8	-	9	1787	c.1598C>A	c.(1597-1599)cCg>cAg	p.P533Q	CTNND2_ENST00000359640.2_Missense_Mutation_p.P533Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.P196Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.P442Q|CTNND2_ENST00000458100.2_Missense_Mutation_p.P100Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	533					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATCAATGGACGGGGACCTGGC	0.493													105	163					3.00942e-58	4.86074e-58	1	0	T	11346514	G	T	11346514	3	4	201	1	0	0	0	0	1	0	0	0	4052	1116	39	3	2135	3	CTNND2	5	11346514	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	323437	11346514	169568746	120	35956											
MYO10	4651	broad.mit.edu	37	chr5	16783479	16783479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgttcaacacaggatgtCttctcctttaaggacaattc	10	13	7	11	1	3	0	1	0	2	0	6	2	3	2	1	2	1	2	1	2	3	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:16783479C>A	ENST00000513610.1	-	5	1021	c.567G>T	c.(565-567)aaG>aaT	p.K189N		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	189	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACAGGATGTCTTCTCCTTTA	0.378													9	23					1.76689e-08	2.28431e-08	1	0	A	16783479	C	A	16783479	3	1	201	1	0	0	0	0	1	0	0	0	10132	912	32	2	5757	2	MYO10	5	16783479	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	5436965	16783479	164131781	121	35957											
CDH9	1007	broad.mit.edu	37	chr5	26890642	26890642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgaataccaaaaatacGgtccatatcagtatgccgat	15	10	8	8	2	1	2	1	2	0	0	2	3	2	2	3	1	3	1	3	1	7	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:26890642G>T	ENST00000231021.4	-	8	1457	c.1285C>A	c.(1285-1287)Cgt>Agt	p.R429S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	429	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCAAAAATACGGTCCATATCA	0.403													33	92					1.414e-09	1.84812e-09	1	0	T	26890642	G	T	26890642	3	4	201	1	0	0	0	0	1	0	0	0	3146	1116	39	3	1104	3	CDH9	5	26890642	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	10107163	26890642	154024618	122	35958											
AGXT2	64902	broad.mit.edu	37	chr5	35039554	35039554	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtttctggaaatatgcCgtcaccacaggagaaagatg	13	8	13	7	1	2	2	1	0	1	2	2	4	2	3	2	4	1	1	2	4	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:35039554C>T	ENST00000231420.6	-	3	437	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	79					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GGAAATATGCCGTCACCACAG	0.473													38	102					0	0	0	0	T	35039554	C	T	35039554	2	4	201	1	0	0	0	0	0	0	0	1	405	639	23	1		1	AGXT2	5	35039554	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	8148912	35039554	145875706	123	35959											
MAP1B	4131	broad.mit.edu	37	chr5	71501008	71501008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacatcatggttttagcaaGcagcagcacagtggttatgc	12	10	10	9	0	1	0	1	0	0	0	1	0	1	0	0	2	6	6	0	2	4	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:71501008G>A	ENST00000296755.7	+	7	7647	c.7349G>A	c.(7348-7350)aGc>aAc	p.S2450N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2450						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTTTTAGCAAGCAGCAGCACA	0.468													10	211					0	0	0	0	A	71501008	G	A	71501008	3	1	201	1	0	0	0	0	1	0	0	0	9297	971	34	4	7375	4	MAP1B	5	71501008	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	36461454	71501008	109414252	124	35960											
AP3B1	8546	broad.mit.edu	37	chr5	77311320	77311320	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacagagggagtgaaattCtgtggtgcagcaatgattac	13	10	12	6	0	2	3	1	2	1	1	2	4	2	4	0	2	3	2	0	2	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:77311320C>A	ENST00000255194.6	-	26	3220	c.3045G>T	c.(3043-3045)caG>caT	p.Q1015H	AP3B1_ENST00000519295.1_Missense_Mutation_p.Q966H	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1015					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GAGTGAAATTCTGTGGTGCAG	0.393									Hermansky-Pudlak syndrome				74	34					2.0493e-37	3.18899e-37	1	0	A	77311320	C	A	77311320	3	1	201	1	0	0	0	0	1	0	0	0	745	912	32	2	247	2	AP3B1	5	77311320	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	5810312	77311320	103603940	125	35961											
ACOT12	134526	broad.mit.edu	37	chr5	80640770	80640770	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttatcatcagcagcattGtaaatgagaaaagcactgtt	14	12	7	8	0	2	1	2	1	0	1	3	2	3	1	1	0	3	5	1	0	5	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:80640770G>A	ENST00000307624.3	-	8	892	c.864C>T	c.(862-864)taC>taT	p.Y288Y		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	288	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CAGCAGCATTGTAAATGAGAA	0.488													49	118					0	0	0	0	A	80640770	G	A	80640770	2	1	201	1	0	0	0	0	0	0	0	1	150	1372	48	4		4	ACOT12	5	80640770	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	3329450	80640770	100274490	126	35962											
GPR98	84059	broad.mit.edu	37	chr5	90106677	90106677	+	Silent	SNP	T	T	A																															acccttcatggcacacctgcTgtgtctgaaaagcctgatgt																										TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:90106677T>A	ENST00000405460.2	+	74	15696	c.15600T>A	c.(15598-15600)gcT>gcA	p.A5200A	GPR98_ENST00000425867.2_Silent_p.A861A	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5200					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCACACCTGCTGTGTCTGAAA	0.478													55	116					0	0	0	0	A	90106677	T	A	90106677	2	1	201	1	0	0	0	0	0	0	0	1	6771	1567	55	5		5	GPR98	5	90106677	Silent	SNP	T	TCGA-CR-7374-01A-11D-2012-08	9465907	90106677	90808583	127	35963	278	2									
GPR98	84059	broad.mit.edu	37	chr5	90106682	90106682	+	Missense_Mutation	SNP	C	C	A																															tcatggcacacctgctgtgtCtgaaaagcctgatgtggcca																										TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:90106682C>A	ENST00000405460.2	+	74	15701	c.15605C>A	c.(15604-15606)tCt>tAt	p.S5202Y	GPR98_ENST00000425867.2_Missense_Mutation_p.S863Y	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5202					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTGCTGTGTCTGAAAAGCCT	0.468													57	111					3.31993e-32	5.07353e-32	1	0	A	90106682	C	A	90106682	3	1	201	1	0	0	0	0	1	0	0	0	6771	913	32	2	15899	2	GPR98	5	90106682	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	5	90106682	90808578	128	35964	278	2									
NUDT12	83594	broad.mit.edu	37	chr5	102890447	102890447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaatggcttaccaggctCaataaatccagcaaggcaag	17	6	9	9	0	1	1	1	0	0	1	2	1	2	1	2	3	2	4	2	3	8	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:102890447C>T	ENST00000230792.2	-	5	1168	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Missense_Mutation_p.E340K	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	358	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTACCAGGCTCAATAAATCCA	0.318													23	71					0	0	0	0	T	102890447	C	T	102890447	3	4	201	1	0	0	0	0	1	0	0	0	10799	835	29	2	328	2	NUDT12	5	102890447	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	12783765	102890447	78024813	129	35965											
KCNN2	3781	broad.mit.edu	37	chr5	113831600	113831600	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtttttcagacccagaaCatcatgtatgatatgatttc	11	15	6	9	0	2	4	2	2	0	2	3	4	2	4	2	0	1	2	2	0	3	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:113831600C>T	ENST00000512097.3	+	9	2479	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	KCNN2_ENST00000503706.1_Silent_p.N139N|KCNN2_ENST00000507750.1_3'UTR|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Silent_p.N487N			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	487	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AGACCCAGAACATCATGTATG	0.408													40	125					0	0	0	0	T	113831600	C	T	113831600	2	4	201	1	0	0	0	0	0	0	0	1	8132	477	17	4		4	KCNN2	5	113831600	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	10941153	113831600	67083660	130	35966											
DMXL1	1657	broad.mit.edu	37	chr5	118576160	118576160	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcacctgccaatagtttaGtccatggtaagttttcaaag	12	13	8	8	0	1	0	1	0	0	0	2	0	2	0	3	1	2	4	3	1	6	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:118576160G>C	ENST00000311085.8	+	41	8715	c.8635G>C	c.(8635-8637)Gtc>Ctc	p.V2879L	DMXL1_ENST00000539542.1_Missense_Mutation_p.V2900L|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2879										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAATAGTTTAGTCCATGGTAA	0.289													42	102					0	0	0	0	C	118576160	G	C	118576160	3	2	201	1	0	0	0	0	1	0	0	0	4631	1029	36	4	8797	4	DMXL1	5	118576160	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	4744560	118576160	62339100	131	35967											
PCDHA11	56138	broad.mit.edu	37	chr5	140250129	140250129	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtgtcggcgcgggacGcggacgcgcaggagaacgcg	8	3	18	12	9	1	1	1	0	0	1	2	4	1	3	0	4	1	1	0	4	1	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:140250129G>C	ENST00000398640.2	+	1	1441	c.1441G>C	c.(1441-1443)Gcg>Ccg	p.A481P	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCGGGACGCGGACGCGCA	0.667													8	225					0	0	0	0	C	140250129	G	C	140250129	3	2	201	1	0	0	0	0	1	0	0	0	11592	1087	38	3	1443	3	PCDHA11	5	140250129	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	21673969	140250129	40665131	132	35968											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347910	140347910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaagggctgccagtcacctCctatgtctccattaacagtg	9	11	8	13	0	3	0	2	0	1	0	5	0	4	0	4	1	2	1	4	1	3	2	rs148804197		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:140347910C>T	ENST00000289269.5	+	1	2091	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		520	Cadherin 5.				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)			CCAGTCACCTCCTATGTCTCC	0.507													6	102					0	0	0	0	T	140347910	C	T	140347910	3	4	201	1	0	0	0	0	1	0	0	0	11604	855	30	2	1561	2	PCDHAC2	5	140347910	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	97781	140347910	40567350	133	35969											
PCDHB11	56125	broad.mit.edu	37	chr5	140581330	140581330	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	accgccacgctgcaagtgctCctggtggacggcttctccca	6	8	11	16	3	1	0	0	0	1	0	3	1	2	1	4	3	2	4	4	3	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:140581330C>G	ENST00000354757.3	+	1	1983	c.1983C>G	c.(1981-1983)ctC>ctG	p.L661L	PCDHB11_ENST00000536699.1_Silent_p.L296L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		661	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAAGTGCTCCTGGTGGACG	0.706													9	162					0	0	0	0	G	140581330	C	G	140581330	2	3	201	1	0	0	0	0	0	0	0	1	11607	842	30	2		2	PCDHB11	5	140581330	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	233420	140581330	40333930	134	35970											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719457	140719457	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgacaatcataaaagatCtagattatgaggatgctaca	18	10	7	6	0	2	4	1	2	1	2	2	5	2	5	0	1	3	1	0	1	7	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:140719457C>T	ENST00000394576.2	+	1	919	c.919C>T	c.(919-921)Cta>Tta	p.L307L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATAAAAGATCTAGATTATGA	0.423													12	255					0	0	0	0	T	140719457	C	T	140719457	2	4	201	1	0	0	0	0	0	0	0	1	11625	912	32	2		2	PCDHGA2	5	140719457	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	138127	140719457	40195803	135	35971											
PCDHGA10	56106	broad.mit.edu	37	chr5	140795002	140795002	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacggggttcgggctttcCtgcagacctattcccacgag	6	10	13	12	3	0	1	0	0	0	1	3	3	2	2	3	4	1	3	3	4	1	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:140795002C>T	ENST00000398610.2	+	1	2260	c.2260C>T	c.(2260-2262)Ctg>Ttg	p.L754L	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGGCTTTCCTGCAGACCTA	0.627													83	122					0	0	0	0	T	140795002	C	T	140795002	2	4	201	1	0	0	0	0	0	0	0	1	11622	680	24	4		4	PCDHGA10	5	140795002	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	75545	140795002	40120258	136	35972											
SH3RF2	153769	broad.mit.edu	37	chr5	145439601	145439601	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggggtccaagcctgccctCacgggggagcccgccctcac	6	5	13	17	2	2	0	2	0	0	0	3	1	3	1	5	4	3	0	5	4	1	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:145439601C>T	ENST00000511217.1	+	8	1780	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	SH3RF2_ENST00000359120.4_Silent_p.L576L|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	576							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCTGCCCTCACGGGGGAGC	0.632													38	74					0	0	0	0	T	145439601	C	T	145439601	2	4	201	1	0	0	0	0	0	0	0	1	14347	813	29	2		2	SH3RF2	5	145439601	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	4644599	145439601	35475659	137	35973											
GABRA1	2554	broad.mit.edu	37	chr5	161324208	161324208	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttggccaggggcgaccCgggcttagccaccattgcta	8	9	12	12	2	0	0	0	0	0	0	0	1	0	0	4	4	2	2	4	4	3	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:161324208C>A	ENST00000428797.2	+	11	1506	c.1151C>A	c.(1150-1152)cCg>cAg	p.P384Q	GABRA1_ENST00000420560.1_Missense_Mutation_p.P384Q|GABRA1_ENST00000023897.6_Missense_Mutation_p.P384Q|GABRA1_ENST00000393943.4_Missense_Mutation_p.P384Q|GABRA1_ENST00000444819.1_Missense_Mutation_p.P384Q|GABRA1_ENST00000437025.2_Missense_Mutation_p.P384Q	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	384					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.P384Q(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AGGGGCGACCCGGGCTTAGCC	0.458													85	113					2.02726e-29	3.05886e-29	1	0	A	161324208	C	A	161324208	3	1	201	1	0	0	0	0	1	0	0	0	6208	652	23	3	1185	3	GABRA1	5	161324208	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	15884607	161324208	19591052	138	35974											
ZFP2	80108	broad.mit.edu	37	chr5	178358636	178358636	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgaatgtaatcagtgcAgcaaaaccttcagtcagagc	14	10	8	9	0	4	2	3	1	1	1	4	2	4	2	1	0	4	3	1	0	5	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:178358636A>T	ENST00000361362.2	+	5	852	c.322A>T	c.(322-324)Agc>Tgc	p.S108C	ZFP2_ENST00000503510.2_Missense_Mutation_p.S108C|ZFP2_ENST00000520301.1_Missense_Mutation_p.S108C|ZFP2_ENST00000523286.1_Missense_Mutation_p.S108C	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TAATCAGTGCAGCAAAACCTT	0.373													23	33					0	0	0	0	T	178358636	A	T	178358636	3	4	201	1	0	0	0	0	1	0	0	0	17736	188	7	5	324	5	ZFP2	5	178358636	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	17034428	178358636	2556624	139	35975											
ZNF354C	30832	broad.mit.edu	37	chr5	178506641	178506641	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacccttatcgaacatcAgcgaattcacactggacaaa	15	9	6	11	2	2	0	2	0	0	0	3	3	2	1	1	1	3	1	1	1	5	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:178506641A>G	ENST00000315475.6	+	5	1514	c.1208A>G	c.(1207-1209)cAg>cGg	p.Q403R		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		ATCGAACATCAGCGAATTCAC	0.408													3	158					0	0	0	0	G	178506641	A	G	178506641	3	3	201	1	0	0	0	0	1	0	0	0	17961	188	7	5	1222	5	ZNF354C	5	178506641	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	148005	178506641	2408619	140	35976											
PHACTR1	221692	broad.mit.edu	37	chr6	13185055	13185055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagagtccctctgccaGtgagtctggagtcctcctgt	7	11	12	11	0	2	3	0	2	2	1	5	5	5	4	4	1	1	0	4	1	1	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:13185055G>A	ENST00000379345.2	+	5	495	c.254G>A	c.(253-255)aGt>aAt	p.S85N	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	226						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CCCTCTGCCAGTGAGTCTGGA	0.562													20	230					0	0	0	0	A	13185055	G	A	13185055	3	1	201	1	0	0	0	0	1	0	0	0	11881	1044	36	4		4	PHACTR1	6	13185055	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08		13185055	157930012	141	35977											
HIST1H3D	8351	broad.mit.edu	37	chr6	26197326	26197326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttctggtagcggcggatCtcgcgcagagccaccgtgcc	6	7	14	14	5	2	1	0	0	2	1	3	3	2	2	3	3	3	2	3	3	1	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:26197326C>T	ENST00000377831.5	-	2	606	c.153G>A	c.(151-153)gaG>gaA	p.E51E	HIST1H3D_ENST00000356476.2_Silent_p.E51E	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	51					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				AGCGGCGGATCTCGCGCAGAG	0.632													49	107					0	0	0	0	T	26197326	C	T	26197326	2	4	201	1	0	0	0	0	0	0	0	1	7208	912	32	2		2	HIST1H3D	6	26197326	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	13012271	26197326	144917741	142	35978											
BTN3A2	11118	broad.mit.edu	37	chr6	26370714	26370714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtggttgcagatggagtgGgcctatatgaagtagcagca	10	10	15	6	0	0	2	0	1	0	1	0	3	0	3	1	3	3	5	1	3	4	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:26370714G>T	ENST00000356386.2	+	5	786	c.598G>T	c.(598-600)Ggc>Tgc	p.G200C	BTN3A2_ENST00000508906.2_Missense_Mutation_p.G158C|BTN3A2_ENST00000377708.2_Missense_Mutation_p.G200C|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G200C|BTN3A2_ENST00000527422.1_Missense_Mutation_p.G200C|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G177C	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	200						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						AGATGGAGTGGGCCTATATGA	0.567													67	196					2.17656e-39	3.42276e-39	1	0	T	26370714	G	T	26370714	3	4	201	1	0	0	0	0	1	0	0	0	1572	1232	43	4	608	4	BTN3A2	6	26370714	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	173388	26370714	144744353	143	35979											
SCAND3	114821	broad.mit.edu	37	chr6	28541503	28541503	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttggttttcccttcttcAggataacttctattgttaac	7	20	5	9	0	3	0	1	0	2	0	4	1	4	1	1	2	2	2	1	2	3	11			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:28541503A>C	ENST00000452236.2	-	4	2780	c.2163T>G	c.(2161-2163)ccT>ccG	p.P721P		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	721					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcccttcttcaggataacttc	0.348													4	34					0	0	0	0	C	28541503	A	C	28541503	2	2	201	1	0	0	0	0	0	0	0	1	13962	175	7	5		5	SCAND3	6	28541503	Silent	SNP	A	TCGA-CR-7374-01A-11D-2012-08	2170789	28541503	142573564	144	35980											
RNF39	80352	broad.mit.edu	37	chr6	30043359	30043359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgggcccagctcgggcgcatCcatggaaagccaggatctgg	8	5	15	13	3	1	0	0	0	1	0	3	2	2	2	3	5	2	2	3	5	1	0	rs141667762		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:30043359C>G	ENST00000244360.6	-	1	305	c.208G>C	c.(208-210)Gat>Cat	p.D70H	RNF39_ENST00000376751.3_Missense_Mutation_p.D70H	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	70						cytoplasm	zinc ion binding										TCGGGCGCATCCATGGAAAGC	0.701													19	33					0	0	0	0	G	30043359	C	G	30043359	3	3	201	1	0	0	0	0	1	0	0	0	13576	855	30	2	1070	2	RNF39	6	30043359	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	1501856	30043359	141071708	145	35981											
AGER	177	broad.mit.edu	37	chr6	32148952	32148952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtactactctcgcctgcctCaggttcctccgactgattca	7	12	7	15	2	3	1	2	1	1	0	6	2	5	1	4	1	3	2	4	1	2	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:32148952C>T	ENST00000375076.4	-	11	1284	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	AGER_ENST00000375055.2_3'UTR|AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375069.3_Missense_Mutation_p.E285K|AGER_ENST00000375067.3_Silent_p.*343*|RNF5_ENST00000427134.2_Intron|AGER_ENST00000438221.2_3'UTR|AGER_ENST00000375070.3_Missense_Mutation_p.E426K	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	395					cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCGCCTGCCTCAGGTTCCTCC	0.557													7	438					0	0	0	0	T	32148952	C	T	32148952	3	4	201	1	0	0	0	0	1	0	0	0	379	838	29	2	35	2	AGER	6	32148952	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	2105593	32148952	138966115	146	35982											
TAP2	6891	broad.mit.edu	37	chr6	32797792	32797792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaccttatcatcttcgcaGctctgcagcccataagcaat	11	11	5	14	1	4	0	2	0	2	0	5	0	4	0	2	0	4	4	2	0	3	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:32797792G>C	ENST00000374897.2	-	10	1841	c.1710C>G	c.(1708-1710)agC>agG	p.S570R	TAP2_ENST00000452392.2_Missense_Mutation_p.S570R|TAP2_ENST00000374899.4_Missense_Mutation_p.S570R	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	570	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										CATCTTCGCAGCTCTGCAGCC	0.537													61	142					0	0	0	0	C	32797792	G	C	32797792	3	2	201	1	0	0	0	0	1	0	0	0	15642	962	34	4	447	4	TAP2	6	32797792	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	648840	32797792	138317275	147	35983											
ZBTB22	9278	broad.mit.edu	37	chr6	33283712	33283712	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcctcacaggtcaacaccaGatcttcctcctcctcttcct	8	12	3	18	0	4	1	2	0	2	1	9	1	9	1	6	1	1	0	6	1	1	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:33283712G>C	ENST00000431845.2	-	2	1133	c.982C>G	c.(982-984)Ctg>Gtg	p.L328V	ZBTB22_ENST00000418724.1_Missense_Mutation_p.L328V	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GTCAACACCAGATCTTCCTCC	0.557													16	166					0	0	0	0	C	33283712	G	C	33283712	3	2	201	1	0	0	0	0	1	0	0	0	17625	933	33	2	926	2	ZBTB22	6	33283712	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	485920	33283712	137831355	148	35984											
DAXX	1616	broad.mit.edu	37	chr6	33287564	33287564	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatctgctgatctgtttGccaggttccaggttcttttc	6	16	10	9	0	3	2	0	1	3	1	5	3	4	2	2	2	2	4	2	2	1	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:33287564G>C	ENST00000374542.5	-	6	1737	c.1533C>G	c.(1531-1533)ggC>ggG	p.G511G	DAXX_ENST00000266000.6_Silent_p.G511G|DAXX_ENST00000414083.2_Silent_p.G436G|DAXX_ENST00000477162.1_5'UTR	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	511	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGATCTGTTTGCCAGGTTCCA	0.502			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								9	118					0	0	0	0	C	33287564	G	C	33287564	2	2	201	1	0	0	0	0	0	0	0	1	4276	1306	46	4		4	DAXX	6	33287564	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	3852	33287564	137827503	149	35985											
PPARD	5467	broad.mit.edu	37	chr6	35378951	35378951	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagaaggagccccagagctCaatgggggaccacagcatgc	12	3	14	12	0	1	2	1	0	0	2	1	4	1	4	3	3	4	3	3	3	2	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:35378951C>G	ENST00000311565.4	+	4	436	c.87C>G	c.(85-87)ctC>ctG	p.L29L	PPARD_ENST00000337400.2_Silent_p.L29L|PPARD_ENST00000444397.1_Silent_p.L29L|PPARD_ENST00000540939.1_Intron|PPARD_ENST00000448077.2_Intron|PPARD_ENST00000418635.2_Silent_p.L29L|PPARD_ENST00000360694.3_Silent_p.L29L	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	29					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CCCCAGAGCTCAATGGGGGAC	0.627													16	68					0	0	0	0	G	35378951	C	G	35378951	2	3	201	1	0	0	0	0	0	0	0	1	12369	813	29	2		2	PPARD	6	35378951	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	2091387	35378951	135736116	150	35986											
MAPK13	5603	broad.mit.edu	37	chr6	36106682	36106682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctgctggagaagatgctgGagctagacgtggacaagcgc	11	6	15	9	2	0	3	0	0	0	3	0	6	0	5	1	3	4	3	1	3	3	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:36106682G>A	ENST00000211287.4	+	11	1130	c.868G>A	c.(868-870)Gag>Aag	p.E290K	MAPK13_ENST00000373761.6_Missense_Mutation_p.E280K|MAPK13_ENST00000373766.5_Missense_Mutation_p.G239E|MAPK13_ENST00000373759.1_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	290	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						GAAGATGCTGGAGCTAGACGT	0.672													22	81					0	0	0	0	A	36106682	G	A	36106682	3	1	201	1	0	0	0	0	1	0	0	0	9344	1175	41	2	910	2	MAPK13	6	36106682	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	727731	36106682	135008385	151	35987											
DNAH8	1769	broad.mit.edu	37	chr6	38759381	38759381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagttctgaaggagatagcCaaaactgtgttgatttctct	12	13	9	7	0	2	3	0	2	2	1	3	4	2	3	1	1	2	2	1	1	4	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:38759381C>T	ENST00000359357.3	+	19	2435	c.2181C>T	c.(2179-2181)gcC>gcT	p.A727A	DNAH8_ENST00000449981.2_Silent_p.A944A|DNAH8_ENST00000441566.1_Silent_p.A727A					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAGATAGCCAAAACTGTGT	0.353													20	37					0	0	0	0	T	38759381	C	T	38759381	2	4	201	1	0	0	0	0	0	0	0	1	4643	581	21	4		4	DNAH8	6	38759381	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	2652699	38759381	132355686	152	35988											
TREM1	54210	broad.mit.edu	37	chr6	41250265	41250265	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgcgcagtaaaccatgatCatggtagtcttctagtatga	12	11	10	8	2	3	2	1	2	2	0	3	3	3	2	1	1	1	4	1	1	5	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:41250265C>G	ENST00000591620.1	-	2	300	c.274G>C	c.(274-276)Gat>Cat	p.D92H	TREM1_ENST00000589614.1_Missense_Mutation_p.D92H|TREM1_ENST00000244709.4_Missense_Mutation_p.D92H|TREM1_ENST00000334475.6_Missense_Mutation_p.D92H	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	92	Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	AAACCATGATCATGGTAGTCT	0.512													24	94					0	0	0	0	G	41250265	C	G	41250265	3	3	201	1	0	0	0	0	1	0	0	0	16565	826	29	2	442	2	TREM1	6	41250265	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	2490884	41250265	129864802	153	35989											
SLC35B2	347734	broad.mit.edu	37	chr6	44224086	44224086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccacctacccacctggagcCctgtggcacagaagagcagc	10	4	10	17	0	0	2	0	0	0	2	0	3	0	3	5	2	4	2	5	2	2	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:44224086C>T	ENST00000393812.3	-	3	496	c.353G>A	c.(352-354)gGg>gAg	p.G118E	SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Intron|SLC35B2_ENST00000393810.1_Intron|SLC35B2_ENST00000537814.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	118					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCTGGAGCCCTGTGGCACA	0.622													86	199					0	0	0	0	T	44224086	C	T	44224086	3	4	201	1	0	0	0	0	1	0	0	0	14664	623	22	4	953	4	SLC35B2	6	44224086	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	2973821	44224086	126890981	154	35990											
GPR116	221395	broad.mit.edu	37	chr6	46830642	46830642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccttagccatctggagcaGactgtttattggggcagaga	10	10	12	9	0	1	2	0	0	1	2	1	4	1	3	2	3	2	3	2	3	2	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:46830642G>C	ENST00000283296.7	-	15	2470	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	GPR116_ENST00000265417.7_Missense_Mutation_p.L728V|GPR116_ENST00000362015.4_Missense_Mutation_p.L728V|GPR116_ENST00000545669.1_Missense_Mutation_p.L157V|GPR116_ENST00000456426.2_Missense_Mutation_p.L586V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	728					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATCTGGAGCAGACTGTTTATT	0.502													73	281					0	0	0	0	C	46830642	G	C	46830642	3	2	201	1	0	0	0	0	1	0	0	0	6682	933	33	2	1886	2	GPR116	6	46830642	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	2606556	46830642	124284425	155	35991											
TNFRSF21	27242	broad.mit.edu	37	chr6	47200672	47200672	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtggagcatgtcatcaaaGataggctgcaagtcacaggg	14	7	13	7	0	3	1	3	0	0	1	3	2	3	2	0	3	2	3	0	3	4	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:47200672G>C	ENST00000296861.2	-	6	2190	c.1797C>G	c.(1795-1797)atC>atG	p.I599M		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	599					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGTCATCAAAGATAGGCTGCA	0.498													13	239					0	0	0	0	C	47200672	G	C	47200672	3	2	201	1	0	0	0	0	1	0	0	0	16389	932	33	2	174	2	TNFRSF21	6	47200672	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	370030	47200672	123914395	156	35992											
GCM1	8521	broad.mit.edu	37	chr6	52993279	52993279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagccagttttggctgcagGtggctccaatggaagctgct	8	10	13	10	0	0	0	0	0	0	0	1	1	1	1	2	4	4	6	2	4	2	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:52993279G>A	ENST00000259803.7	-	6	1247	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	346						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTGGCTGCAGGTGGCTCCAAT	0.473													39	162					0	0	0	0	A	52993279	G	A	52993279	3	1	201	1	0	0	0	0	1	0	0	0	6346	1261	44	4	278	4	GCM1	6	52993279	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	5792607	52993279	118121788	157	35993											
DST	667	broad.mit.edu	37	chr6	56484146	56484146	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacactcattacttttctcCaattcttcattgagcctttg	8	17	4	12	0	4	1	2	1	2	0	5	1	4	1	2	0	2	1	2	0	2	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:56484146C>T	ENST00000370765.6	-	23	4793	c.4686G>A	c.(4684-4686)ttG>ttA	p.L1562L	DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5241					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACTTTTCTCCAATTCTTCAT	0.333													59	139					0	0	0	0	T	56484146	C	T	56484146	2	4	201	1	0	0	0	0	0	0	0	1	4819	593	21	4		4	DST	6	56484146	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	3490867	56484146	114630921	158	35994											
BAI3	577	broad.mit.edu	37	chr6	70071204	70071204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tattgcactacaaagtaaacCctgaattcaatatgaatccc	16	11	4	10	0	1	2	1	2	0	0	2	2	2	2	2	0	3	2	2	0	9	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:70071204C>A	ENST00000370598.1	+	29	4860	c.4039C>A	c.(4039-4041)Cct>Act	p.P1347T	BAI3_ENST00000238918.8_Missense_Mutation_p.P553T|BAI3_ENST00000546190.1_Missense_Mutation_p.P311T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1347					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAAAGTAAACCCTGAATTCAA	0.403													77	122					7.97268e-31	1.20602e-30	1	0	A	70071204	C	A	70071204	3	1	201	1	0	0	0	0	1	0	0	0	1304	623	22	4	4145	4	BAI3	6	70071204	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	13587058	70071204	101043863	159	35995											
FAM135A	57579	broad.mit.edu	37	chr6	71185189	71185189	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaattttgtacaaaaaTgaagaggttgttttaaatga	16	16	7	2	0	1	3	1	2	0	1	1	3	1	3	0	1	1	3	0	1	7	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:71185189T>C	ENST00000418814.2	+	6	848	c.234T>C	c.(232-234)aaT>aaC	p.N78N	FAM135A_ENST00000370479.3_Silent_p.N35N|FAM135A_ENST00000505769.1_Silent_p.N78N|FAM135A_ENST00000457062.2_Silent_p.N35N|FAM135A_ENST00000361499.3_Silent_p.N78N|FAM135A_ENST00000505868.1_Silent_p.N78N	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	78										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGTACAAAAATGAAGAGGTTG	0.264													5	43					0	0	0	0	C	71185189	T	C	71185189	2	2	201	1	0	0	0	0	0	0	0	1	5489	1461	51	5		5	FAM135A	6	71185189	Silent	SNP	T	TCGA-CR-7374-01A-11D-2012-08	1113985	71185189	99929878	160	35996											
ANKRD6	22881	broad.mit.edu	37	chr6	90331648	90331648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcctccttcaggtcttgcGcttcagtcgtgggcgaagcc	4	12	12	13	3	3	0	2	0	1	0	5	1	4	0	3	2	3	1	3	2	1	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:90331648G>T	ENST00000522441.1	+	10	1441	c.800G>T	c.(799-801)cGc>cTc	p.R267L	ANKRD6_ENST00000447838.2_Missense_Mutation_p.R267L|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R267L|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R208L|LYRM2_ENST00000520441.1_Missense_Mutation_p.R75S|ANKRD6_ENST00000369408.5_Intron	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	267							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CAGGTCTTGCGCTTCAGTCGT	0.547													22	64					7.45023e-12	9.91146e-12	1	0	T	90331648	G	T	90331648	3	4	201	1	0	0	0	0	1	0	0	0	684	1087	38	3	834	3	ANKRD6	6	90331648	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	19146459	90331648	80783419	161	35997											
MYB	4602	broad.mit.edu	37	chr6	135518296	135518296	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgacccacccaaggtcttAcctcctgcaaggcacagcac	10	7	7	17	0	1	1	0	1	1	0	2	1	2	1	4	2	3	3	4	2	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:135518296A>T	ENST00000341911.5	+	10	1600	c.1401A>T	c.(1399-1401)ttA>ttT	p.L467F	MYB_ENST00000528774.1_Missense_Mutation_p.L464F|MYB_ENST00000534044.1_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000367814.4_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.L451F|MYB_ENST00000525369.1_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000527615.1_Intron	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	441					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CCAAGGTCTTACCTCCTGCAA	0.517			T	NFIB	adenoid cystic carcinoma								39	113					0	0	0	0	T	135518296	A	T	135518296	3	4	201	1	0	0	0	0	1	0	0	0	10077	388	14	5	1439	5	MYB	6	135518296	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	45186648	135518296	35596771	162	35998											
MAP3K5	4217	broad.mit.edu	37	chr6	136990454	136990454	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaggaagattcaaactGgtgtccagctgccaggagga	13	7	12	9	0	2	1	2	0	0	1	3	4	3	4	2	4	3	1	2	4	3	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:136990454G>A	ENST00000359015.4	-	8	1693	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	445					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GATTCAAACTGGTGTCCAGCT	0.393													52	143					0	0	0	0	A	136990454	G	A	136990454	4	1	201	1	0	0	0	0	0	1	0	0	9322	1357	47	4	2883	4	MAP3K5	6	136990454	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	1472158	136990454	34124613	163	35999											
STXBP5	134957	broad.mit.edu	37	chr6	147684646	147684646	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatccccctcctcttctcaGgaaattagtgaaaaccagta	12	11	6	12	0	2	1	1	1	2	0	5	2	4	2	4	1	1	2	4	1	6	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:147684646G>A	ENST00000367481.3	+	22	2721	c.2613G>A	c.(2611-2613)caG>caA	p.Q871Q	STXBP5_ENST00000321680.6_Silent_p.Q907Q|STXBP5_ENST00000179882.6_Silent_p.Q562Q|STXBP5_ENST00000367480.3_Silent_p.Q854Q	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	907					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CCTCTTCTCAGGAAATTAGTG	0.418													16	54					0	0	0	0	A	147684646	G	A	147684646	2	1	201	1	0	0	0	0	0	0	0	1	15446	991	35	4		4	STXBP5	6	147684646	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	10694192	147684646	23430421	164	36000											
MICALL2	79778	broad.mit.edu	37	chr7	1481953	1481953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcctgccgggggcaacgcgGatgcctgagaggtactgctc	6	7	16	12	3	0	1	0	1	0	1	1	3	0	2	3	4	6	3	3	4	2	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:1481953G>T	ENST00000297508.7	-	7	1761	c.1586C>A	c.(1585-1587)tCc>tAc	p.S529Y	MICALL2_ENST00000405088.4_Missense_Mutation_p.S317Y	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	529						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGGCAACGCGGATGCCTGAGA	0.667													20	236					7.45023e-12	9.91146e-12	1	0	T	1481953	G	T	1481953	3	4	201	1	0	0	0	0	1	0	0	0	9643	1174	41	2	1172	2	MICALL2	7	1481953	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08		1481953	157656710	165	36001											
FOXK1	221937	broad.mit.edu	37	chr7	4722314	4722314	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgccagcccagcgtcaccatCggccgcaactcgtcgcaggg	7	4	12	18	6	1	0	1	0	0	0	4	0	1	0	4	2	3	2	4	2	1	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:4722314C>G	ENST00000328914.4	+	1	375	c.375C>G	c.(373-375)atC>atG	p.I125M	FOXK1_ENST00000446823.1_Intron	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	125	FHA.				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GCGTCACCATCGGCCGCAACT	0.716													5	38					0	0	0	0	G	4722314	C	G	4722314	3	3	201	1	0	0	0	0	1	0	0	0	6061	874	31	3	377	3	FOXK1	7	4722314	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	3240361	4722314	154416349	166	36002											
FOXK1	221937	broad.mit.edu	37	chr7	4800781	4800781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccagccagatggcccccGgggtccccggacacacggtc	6	4	14	17	3	0	1	0	0	0	1	2	2	1	2	6	6	1	0	6	6	0	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:4800781G>A	ENST00000328914.4	+	8	1783	c.1783G>A	c.(1783-1785)Ggg>Agg	p.G595R	FOXK1_ENST00000446823.1_Missense_Mutation_p.G432R	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	595					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GATGGCCCCCGGGGTCCCCGG	0.672													42	93					0	0	0	0	A	4800781	G	A	4800781	3	1	201	1	0	0	0	0	1	0	0	0	6061	1116	39	1	1813	1	FOXK1	7	4800781	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	78467	4800781	154337882	167	36003											
TNRC18	84629	broad.mit.edu	37	chr7	5353145	5353145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtccagtttgacaagcagCtcggcctcctcccccggcct	5	9	10	17	2	0	1	0	1	0	0	4	1	3	1	6	3	2	3	6	3	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:5353145C>T	ENST00000399537.4	-	27	7725	c.7377G>A	c.(7375-7377)gaG>gaA	p.E2459E	TNRC18_ENST00000430969.1_Silent_p.E2459E			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2459							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGACAAGCAGCTCGGCCTCCT	0.687													21	38					0	0	0	0	T	5353145	C	T	5353145	2	4	201	1	0	0	0	0	0	0	0	1	16433	796	28	4		4	TNRC18	7	5353145	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	552364	5353145	153785518	168	36004											
DNAH11	8701	broad.mit.edu	37	chr7	21640667	21640667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtatgttcaaatgagcaaaTttgaggactttagagtgttt	12	16	10	3	0	1	3	1	2	0	1	1	4	1	4	0	1	1	4	0	1	4	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:21640667T>C	ENST00000328843.6	+	17	3326	c.3295T>C	c.(3295-3297)Ttt>Ctt	p.F1099L	DNAH11_ENST00000409508.3_Missense_Mutation_p.F1099L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1099	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATGAGCAAATTTGAGGACTT	0.333									Kartagener syndrome				22	74					0	0	0	0	C	21640667	T	C	21640667	3	2	201	1	0	0	0	0	1	0	0	0	4636	1493	52	5	3361	5	DNAH11	7	21640667	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	16287522	21640667	137497996	169	36005											
HERPUD2	64224	broad.mit.edu	37	chr7	35673933	35673933	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacataccatttcttcaaGttccaagttgtttgcatttt	10	18	4	9	0	3	0	2	0	1	0	4	0	4	0	2	0	2	4	2	0	3	8			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:35673933G>C	ENST00000396081.1	-	7	1852	c.1048C>G	c.(1048-1050)Ctt>Gtt	p.L350V	HERPUD2_ENST00000311350.3_Missense_Mutation_p.L350V|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	350					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						ATTTCTTCAAGTTCCAAGTTG	0.408													35	66					0	0	0	0	C	35673933	G	C	35673933	3	2	201	1	0	0	0	0	1	0	0	0	7114	1029	36	4	180	4	HERPUD2	7	35673933	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	14033266	35673933	123464730	170	36006											
DBNL	28988	broad.mit.edu	37	chr7	44091508	44091508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagagtgaaggaccccaaCtctggactgcccaaatttgt	11	9	10	11	0	1	2	0	1	1	1	1	4	1	4	3	2	3	1	3	2	3	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:44091508C>T	ENST00000494774.1	+	3	240	c.219C>T	c.(217-219)aaC>aaT	p.N73N	DBNL_ENST00000448521.1_Silent_p.N73N|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Intron|DBNL_ENST00000468694.1_Silent_p.N73N|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000456905.1_Silent_p.N73N|DBNL_ENST00000452943.1_Silent_p.N73N	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	73	ADF-H.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						AGGACCCCAACTCTGGACTGC	0.527													33	97					0	0	0	0	T	44091508	C	T	44091508	2	4	201	1	0	0	0	0	0	0	0	1	4288	564	20	4		4	DBNL	7	44091508	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	8417575	44091508	115047155	171	36007											
SUMF2	25870	broad.mit.edu	37	chr7	56147375	56147375	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggccatgttgcaaacagCgcaattccaagctcgagagc	11	7	10	13	2	0	1	0	0	0	1	2	2	1	1	3	1	5	4	3	1	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:56147375C>T	ENST00000342190.6	+	8	888	c.888C>T	c.(886-888)agC>agT	p.S296S	SUMF2_ENST00000275607.9_3'UTR|SUMF2_ENST00000437307.2_3'UTR|SUMF2_ENST00000395436.2_3'UTR|SUMF2_ENST00000395435.2_3'UTR|SUMF2_ENST00000413756.1_3'UTR|SUMF2_ENST00000434526.2_3'UTR	NM_001130069.2	NP_001123541.1	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	0						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTGCAAACAGCGCAATTCCAA	0.602											OREG0018082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	52					0	0	0	0	T	56147375	C	T	56147375	2	4	201	1	0	0	0	0	0	0	0	1	15476	767	27	1		1	SUMF2	7	56147375	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	12055867	56147375	102991288	172	36008											
KCTD7	154881	broad.mit.edu	37	chr7	66236935	66236935	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatgtggatcaatcggatCtcctgtgcaagaaaggatgt	11	12	11	7	1	3	1	2	0	1	1	5	4	3	4	1	3	1	1	1	3	3	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:66236935C>G	ENST00000380828.2	+	2	203	c.49C>G	c.(49-51)Ctc>Gtc	p.L17V	KCTD7_ENST00000451741.2_Missense_Mutation_p.L17V|RABGEF1_ENST00000437078.2_Missense_Mutation_p.L31V|KCTD7_ENST00000510829.2_Missense_Mutation_p.L17V|RABGEF1_ENST00000450873.2_Missense_Mutation_p.L17V|RABGEF1_ENST00000439720.2_Missense_Mutation_p.L30V|RABGEF1_ENST00000284957.5_Missense_Mutation_p.L17V|RABGEF1_ENST00000484547.2_3'UTR			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TCAATCGGATCTCCTGTGCAA	0.483													50	231					0	0	0	0	G	66236935	C	G	66236935	3	3	201	1	0	0	0	0	1	0	0	0	8167	913	32	2		2	KCTD7	7	66236935	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	10089560	66236935	92901728	173	36009											
TYW1	55253	broad.mit.edu	37	chr7	66479523	66479523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtatttggcctgggaaattCtgcctatgctagccacttca	8	13	10	10	0	2	0	1	0	1	0	2	1	2	1	3	3	3	2	3	3	4	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:66479523C>T	ENST00000359626.5	+	5	709	c.545C>T	c.(544-546)tCt>tTt	p.S182F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	182	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTGGGAAATTCTGCCTATGCT	0.418													63	293					0	0	0	0	T	66479523	C	T	66479523	3	4	201	1	0	0	0	0	1	0	0	0	16914	913	32	2	563	2	TYW1	7	66479523	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	242588	66479523	92659140	174	36010											
ABCB4	5244	broad.mit.edu	37	chr7	87056098	87056098	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccacatcaaggctcttctGacacatttgtgaatttttaa	11	16	5	9	0	3	2	1	2	2	0	4	2	4	2	1	1	0	1	1	1	3	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:87056098G>A	ENST00000265723.4	-	16	2143	c.2032C>T	c.(2032-2034)Cag>Tag	p.Q678*	ABCB4_ENST00000359206.3_Nonsense_Mutation_p.Q678*|ABCB4_ENST00000358400.3_Nonsense_Mutation_p.Q678*|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.Q678*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.Q678*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	678					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AGGCTCTTCTGACACATTTGT	0.353													27	39					0	0	0	0	A	87056098	G	A	87056098	4	1	201	1	0	0	0	0	0	1	0	0	43	1299	45	2	1880	2	ABCB4	7	87056098	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	20576575	87056098	72082565	175	36011											
COL1A2	1278	broad.mit.edu	37	chr7	94057155	94057155	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagaaagaacccagctcgcAcatgccgtgacttgagactc	12	7	9	13	2	0	4	0	2	0	3	2	5	0	4	2	0	3	2	2	0	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:94057155A>C	ENST00000297268.6	+	49	3955	c.3484A>C	c.(3484-3486)Aca>Cca	p.T1162P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1162	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCAGCTCGCACATGCCGTGA	0.488										HNSCC(75;0.22)			32	24					0	0	0	0	C	94057155	A	C	94057155	3	2	201	1	0	0	0	0	1	0	0	0	3708	159	6	5	3678	5	COL1A2	7	94057155	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	7001057	94057155	65081508	176	36012											
TRIP6	7205	broad.mit.edu	37	chr7	100466214	100466214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctatgggggccccactcCagcctcttacactaccgcca	7	8	7	19	1	1	0	0	0	1	0	3	0	3	0	7	2	3	0	7	2	3	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:100466214C>T	ENST00000200457.4	+	4	821	c.461C>T	c.(460-462)cCa>cTa	p.P154L		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	154					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCCCACTCCAGCCTCTTAC	0.697													7	65					0	0	0	0	T	100466214	C	T	100466214	3	4	201	1	0	0	0	0	1	0	0	0	16654	594	21	4	475	4	TRIP6	7	100466214	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	6409059	100466214	58672449	177	36013											
MUC17	140453	broad.mit.edu	37	chr7	100677694	100677694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgctggtggccaattctgaGgctagcaccctttcaacaac	10	9	9	13	1	2	1	1	1	1	0	2	1	2	1	2	3	3	3	2	3	4	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:100677694G>T	ENST00000306151.4	+	3	3061	c.2997G>T	c.(2995-2997)gaG>gaT	p.E999D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	999	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAATTCTGAGGCTAGCACCC	0.522													307	339					9.82643e-173	1.60894e-172	1	0	T	100677694	G	T	100677694	3	4	201	1	0	0	0	0	1	0	0	0	10044	991	35	4	3007	4	MUC17	7	100677694	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	211480	100677694	58460969	178	36014											
CUX1	1523	broad.mit.edu	37	chr7	101918582	101918582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattcactgctttccatcatCtccagccagagggagcgctt	8	11	9	13	1	3	1	2	0	1	1	5	3	4	2	3	1	3	2	3	1	0	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:101918582C>G	ENST00000437600.4	+	17	1861	c.1509C>G	c.(1507-1509)atC>atG	p.I503M	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Missense_Mutation_p.I489M|CUX1_ENST00000292538.4_Missense_Mutation_p.I505M|CUX1_ENST00000425244.2_Missense_Mutation_p.I459M|CUX1_ENST00000393824.3_Missense_Mutation_p.I466M	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	317					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTTCCATCATCTCCAGCCAGA	0.632													12	92					0	0	0	0	G	101918582	C	G	101918582	3	3	201	1	0	0	0	0	1	0	0	0	4096	903	32	2	4951	2	CUX1	7	101918582	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	1240888	101918582	57220081	179	36015											
PRKRIP1	79706	broad.mit.edu	37	chr7	102065581	102065581	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttgccacagcctctgcCtggaacctggctcgtgctgt	5	12	11	13	1	1	0	0	0	1	0	2	1	1	1	4	2	5	3	4	2	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:102065581C>G	ENST00000354783.4	+	5	490	c.399C>G	c.(397-399)gcC>gcG	p.A133A	PRKRIP1_ENST00000496391.1_3'UTR|PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000397912.3_3'UTR|PRKRIP1_ENST00000462601.1_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	0	Required for RNA-binding (By similarity).|Required for nuclear localization (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						CAGCCTCTGCCTGGAACCTGG	0.607													11	9					0	0	0	0	G	102065581	C	G	102065581	2	3	201	1	0	0	0	0	0	0	0	1	12605	696	24	4		4	PRKRIP1	7	102065581	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	146999	102065581	57073082	180	36016											
CPA4	51200	broad.mit.edu	37	chr7	129948163	129948163	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaaccgattatggaggaAgacgcggtcccgaaatcctg	12	7	12	10	4	1	2	1	0	0	2	3	6	3	4	3	3	1	0	3	3	4	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:129948163A>C	ENST00000222482.4	+	8	747	c.719A>C	c.(718-720)aAg>aCg	p.K240T	CPA4_ENST00000445470.2_Missense_Mutation_p.K207T|CPA4_ENST00000493259.1_Missense_Mutation_p.K136T	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	240					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TTATGGAGGAAGACGCGGTCC	0.537													31	40					0	0	0	0	C	129948163	A	C	129948163	3	2	201	1	0	0	0	0	1	0	0	0	3822	72	3	5	749	5	CPA4	7	129948163	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	27882582	129948163	29190500	181	36017											
OR2A25	392138	broad.mit.edu	37	chr7	143772094	143772094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catcatcatgtatgttgagcCccagtatgagagccccaagg	11	9	10	11	0	2	2	2	2	0	1	2	3	2	2	4	1	2	3	4	1	3	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:143772094C>A	ENST00000408898.2	+	1	820	c.782C>A	c.(781-783)cCc>cAc	p.P261H		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TATGTTGAGCCCCAGTATGAG	0.488													135	168					2.4537e-52	3.93119e-52	1	0	A	143772094	C	A	143772094	3	1	201	1	0	0	0	0	1	0	0	0	11049	623	22	4	784	4	OR2A25	7	143772094	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	13823931	143772094	15366569	182	36018											
C7orf33	202865	broad.mit.edu	37	chr7	148311217	148311217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accaaatctggtgccccgtgGcattttctttctcaaggtcc	7	13	8	13	1	3	0	1	0	3	0	5	0	4	0	4	3	1	1	4	3	2	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:148311217G>T	ENST00000307003.2	+	2	649	c.288G>T	c.(286-288)tgG>tgT	p.W96C		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	96										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GTGCCCCGTGGCATTTTCTTT	0.517													27	57					8.24728e-16	1.12997e-15	1	0	T	148311217	G	T	148311217	3	4	201	1	0	0	0	0	1	0	0	0	2411	1212	42	4	294	4	C7orf33	7	148311217	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	4539123	148311217	10827446	183	36019											
GIMAP6	474344	broad.mit.edu	37	chr7	150325508	150325508	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacgtccctgccgaggaTgctgtttcctgttgcactct	6	12	11	12	2	1	1	0	0	1	1	3	4	3	2	3	1	3	4	3	1	1	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:150325508T>C	ENST00000328902.5	-	3	394	c.178A>G	c.(178-180)Atc>Gtc	p.I60V	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	60							GTP binding	p.I60V(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGCCGAGGATGCTGTTTCCT	0.547													20	477					0	0	0	0	C	150325508	T	C	150325508	3	2	201	1	0	0	0	0	1	0	0	0	6434	1464	51	5	704	5	GIMAP6	7	150325508	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	2014291	150325508	8813155	184	36020											
UNC5D	137970	broad.mit.edu	37	chr8	35608237	35608237	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtgccgtgaagcaactGaaggtggcggtttttggctg	7	11	16	7	2	0	2	0	2	0	0	0	3	0	2	1	4	3	3	1	4	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:35608237G>T	ENST00000287272.2	+	12	1886	c.1866G>T	c.(1864-1866)ctG>ctT	p.L622L	UNC5D_ENST00000449677.1_Silent_p.L267L|UNC5D_ENST00000420357.1_Silent_p.L624L|UNC5D_ENST00000404895.2_Silent_p.L691L|UNC5D_ENST00000453357.2_Silent_p.L686L|UNC5D_ENST00000416672.1_Silent_p.L696L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	691	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGAAGCAACTGAAGGTGGCGG	0.507													31	306					5.45727e-16	7.49431e-16	1	0	T	35608237	G	T	35608237	2	4	201	1	0	0	0	0	0	0	0	1	17091	1277	45	2		2	UNC5D	8	35608237	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08		35608237	110755785	185	36021											
UNC5D	137970	broad.mit.edu	37	chr8	35624547	35624547	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcggcagctcaaaggccAtgaacagatcctccaagtgc	12	7	9	13	1	1	2	1	1	0	1	4	2	3	2	3	2	3	2	3	2	3	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:35624547A>G	ENST00000287272.2	+	14	2254	c.2234A>G	c.(2233-2235)cAt>cGt	p.H745R	UNC5D_ENST00000449677.1_Missense_Mutation_p.H390R|UNC5D_ENST00000420357.1_Missense_Mutation_p.H747R|UNC5D_ENST00000404895.2_Missense_Mutation_p.H814R|UNC5D_ENST00000453357.2_Missense_Mutation_p.H809R|UNC5D_ENST00000416672.1_Missense_Mutation_p.H819R			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	814					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTCAAAGGCCATGAACAGATC	0.507													93	121					0	0	0	0	G	35624547	A	G	35624547	3	3	201	1	0	0	0	0	1	0	0	0	17091	217	8	5	2499	5	UNC5D	8	35624547	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	16310	35624547	110739475	186	36022											
YTHDF3	253943	broad.mit.edu	37	chr8	64099575	64099575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcagcaacaaggacctcagCcacaggcccagcctcaccaa	14	2	8	17	0	2	0	2	0	0	0	2	1	2	1	5	2	5	2	5	2	3	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:64099575C>T	ENST00000539294.1	+	4	1319	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_Missense_Mutation_p.P146S	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	336												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AGGACCTCAGCCACAGGCCCA	0.567													14	31					0	0	0	0	T	64099575	C	T	64099575	3	4	201	1	0	0	0	0	1	0	0	0	17596	738	26	4	1019	4	YTHDF3	8	64099575	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	28475028	64099575	82264447	187	36023											
PREX2	80243	broad.mit.edu	37	chr8	69005862	69005862	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattccatacaatgggtttAtaatagcattgagagtgctc	13	13	9	6	0	0	2	0	1	0	2	2	3	1	2	1	1	3	3	1	1	5	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:69005862A>T	ENST00000288368.4	+	21	2550	c.2273A>T	c.(2272-2274)tAt>tTt	p.Y758F	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	758					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAATGGGTTTATAATAGCATT	0.438													49	101					0	0	0	0	T	69005862	A	T	69005862	3	4	201	1	0	0	0	0	1	0	0	0	12557	449	16	5	2355	5	PREX2	8	69005862	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	4906287	69005862	77358160	188	36024											
KIAA1429	25962	broad.mit.edu	37	chr8	95547138	95547138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggaggtggtggtggtggaGagtctctgtcatgacttatc	6	13	17	5	0	2	2	1	1	1	1	4	4	2	3	0	6	0	0	0	6	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:95547138G>A	ENST00000297591.5	-	5	488	c.413C>T	c.(412-414)tCt>tTt	p.S138F	KIAA1429_ENST00000421249.2_Missense_Mutation_p.S138F|KIAA1429_ENST00000437199.1_Missense_Mutation_p.S138F	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	138					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			tggtggtggAGAGTCTCTGTC	0.458													41	109					0	0	0	0	A	95547138	G	A	95547138	3	1	201	1	0	0	0	0	1	0	0	0	8282	942	33	2	5159	2	KIAA1429	8	95547138	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	26541276	95547138	50816884	189	36025											
UBR5	51366	broad.mit.edu	37	chr8	103335611	103335611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctaagttgaaatctacagCtgtcattcatattccaaact	14	14	4	9	0	4	1	2	1	2	0	5	1	5	1	1	0	3	2	1	0	5	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:103335611C>A	ENST00000520539.1	-	14	2318	c.1712G>T	c.(1711-1713)aGc>aTc	p.S571I	UBR5_ENST00000220959.4_Missense_Mutation_p.S571I|UBR5_ENST00000521922.1_Missense_Mutation_p.S565I	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	571					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AAATCTACAGCTGTCATTCAT	0.363													15	44					0.00244969	0.00299798	1	0	A	103335611	C	A	103335611	3	1	201	1	0	0	0	0	1	0	0	0	17001	797	28	4	6871	4	UBR5	8	103335611	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	7788473	103335611	43028411	190	36026											
KCNV1	27012	broad.mit.edu	37	chr8	110980568	110980568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataggcaaggccaagacaaGaattcccgataatatacaca	19	6	7	9	1	0	2	0	0	0	2	1	3	1	2	2	2	1	1	2	2	9	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:110980568G>A	ENST00000524391.1	-	4	2284	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	KCNV1_ENST00000297404.1_Missense_Mutation_p.L418F			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	418						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GCCAAGACAAGAATTCCCGAT	0.478													51	113					0	0	0	0	A	110980568	G	A	110980568	3	1	201	1	0	0	0	0	1	0	0	0	8147	942	33	2	254	2	KCNV1	8	110980568	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	7644957	110980568	35383454	191	36027											
CSMD3	114788	broad.mit.edu	37	chr8	113668540	113668540	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcccatcatgaacttcCagaacatcataattcagttc	12	13	5	11	0	3	2	3	1	0	1	5	2	4	2	2	1	2	1	2	1	3	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:113668540C>G	ENST00000297405.5	-	18	3091	c.2847G>C	c.(2845-2847)ctG>ctC	p.L949L	CSMD3_ENST00000352409.3_Silent_p.L949L|CSMD3_ENST00000343508.3_Silent_p.L909L|CSMD3_ENST00000455883.2_Silent_p.L845L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	949	CUB 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATGAACTTCCAGAACATCAT	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	69					0	0	0	0	G	113668540	C	G	113668540	2	3	201	1	0	0	0	0	0	0	0	1	3978	581	21	4		4	CSMD3	8	113668540	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	2687972	113668540	32695482	192	36028											
WISP1	8840	broad.mit.edu	37	chr8	134232922	134232922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcacgtgcatcgacggcGcggtgggctgcacaccactg	7	6	14	14	5	0	0	0	0	0	0	1	1	0	0	1	3	3	4	1	3	0	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:134232922G>T	ENST00000250160.6	+	3	554	c.448G>T	c.(448-450)Gcg>Tcg	p.A150S	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	150	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CATCGACGGCGCGGTGGGCTG	0.667													50	138					1.39843e-22	2.03781e-22	1	0	T	134232922	G	T	134232922	3	4	201	1	0	0	0	0	1	0	0	0	17468	1087	38	3	458	3	WISP1	8	134232922	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	20564382	134232922	12131100	193	36029											
GLI4	2738	broad.mit.edu	37	chr8	144358699	144358699	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaacctggtgcgccacCagcggctgcacacgggtgag	7	5	14	15	3	0	1	0	1	0	0	1	1	1	1	4	3	4	3	4	3	1	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:144358699C>T	ENST00000340042.1	+	4	941	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	GLI4_ENST00000523522.1_Nonsense_Mutation_p.Q286*|GLI4_ENST00000523812.1_3'UTR	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	286						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGTGCGCCACCAGCGGCTGCA	0.657													21	35					0	0	0	0	T	144358699	C	T	144358699	4	4	201	1	0	0	0	0	0	1	0	0	6491	595	21	4	866	4	GLI4	8	144358699	Nonsense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	10125777	144358699	2005323	194	36030											
RHPN1	114822	broad.mit.edu	37	chr8	144463846	144463846	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgcttcggggagactcGcctgtcctcatcgctgccgt	4	10	11	16	5	2	1	2	0	0	1	6	2	3	1	3	2	1	2	3	2	0	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:144463846G>A	ENST00000289013.6	+	13	1694	c.1593G>A	c.(1591-1593)tcG>tcA	p.S531S		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	556					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GGGGAGACTCGCCTGTCCTCA	0.692													23	39					0	0	0	0	A	144463846	G	A	144463846	2	1	201	1	0	0	0	0	0	0	0	1	13433	1074	38	1		1	RHPN1	8	144463846	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	105147	144463846	1900176	195	36031											
KANK1	23189	broad.mit.edu	37	chr9	712501	712501	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagagggtggaaatgcatGaccgatgtgctgggaggtct	10	8	18	5	1	1	2	0	1	1	1	1	6	1	4	1	5	2	2	1	5	1	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:712501G>C	ENST00000382303.1	+	7	2387	c.1735G>C	c.(1735-1737)Gac>Cac	p.D579H	KANK1_ENST00000382297.2_Missense_Mutation_p.D579H|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.D421H	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	579					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GGAAATGCATGACCGATGTGC	0.507													30	196					0	0	0	0	C	712501	G	C	712501	3	2	201	1	0	0	0	0	1	0	0	0	8029	1290	45	2	1741	2	KANK1	9	712501	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08		712501	140500930	196	36032											
DNAI1	27019	broad.mit.edu	37	chr9	34493300	34493300	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagggaagatggccatgAggaagctgacatctatggag	14	7	14	6	0	2	3	1	2	1	1	2	6	2	6	1	4	1	1	1	4	4	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:34493300A>G	ENST00000242317.4	+	9	961	c.790A>G	c.(790-792)Agg>Ggg	p.R264G	DNAI1_ENST00000488369.1_3'UTR	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	264					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GATGGCCATGAGGAAGCTGAC	0.478									Kartagener syndrome				39	53					0	0	0	0	G	34493300	A	G	34493300	3	3	201	1	0	0	0	0	1	0	0	0	4645	295	11	5	824	5	DNAI1	9	34493300	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	33780799	34493300	106720131	197	36033											
TLN1	7094	broad.mit.edu	37	chr9	35706887	35706887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcacactccagctgccctgGagccttgtccctgcagacac	7	9	8	17	0	1	1	1	0	0	1	3	2	3	2	4	1	4	2	4	1	0	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:35706887G>C	ENST00000314888.9	-	38	5319	c.4966C>G	c.(4966-4968)Cca>Gca	p.P1656A	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.P1656A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1656	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGCCCTGGAGCCTTGTCC	0.582													4	116					0	0	0	0	C	35706887	G	C	35706887	3	2	201	1	0	0	0	0	1	0	0	0	16041	1174	41	2	2739	2	TLN1	9	35706887	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	1213587	35706887	105506544	198	36034											
OR13C4	138804	broad.mit.edu	37	chr9	107288743	107288743	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatggtaccataaaataTgatcaccacagtcaggtgag	16	8	10	7	0	2	3	2	2	0	1	2	4	2	3	2	2	1	1	2	2	5	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:107288743T>C	ENST00000277216.3	-	1	747	c.748A>G	c.(748-750)Ata>Gta	p.I250V		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CCATAAAATATGATCACCACA	0.453													80	63					0	0	0	0	C	107288743	T	C	107288743	3	2	201	1	0	0	0	0	1	0	0	0	11007	1464	51	5	210	5	OR13C4	9	107288743	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	71581856	107288743	33924688	199	36035											
ABCA1	19	broad.mit.edu	37	chr9	107586827	107586827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagtaggacttggtgcaagGaaaataccagggcctgggaa	13	6	14	8	0	0	0	0	0	0	0	0	3	0	3	3	5	2	2	3	5	6	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:107586827G>A	ENST00000374736.3	-	18	2969	c.2575C>T	c.(2575-2577)Cct>Tct	p.P859S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	859					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGGTGCAAGGAAAATACCAG	0.507													56	38					0	0	0	0	A	107586827	G	A	107586827	3	1	201	1	0	0	0	0	1	0	0	0	28	1174	41	2	4342	2	ABCA1	9	107586827	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	298084	107586827	33626604	200	36036											
TTC16	158248	broad.mit.edu	37	chr9	130485521	130485521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgccaagatgcggggatcCtggctgtgcagggcaagctg	7	6	17	11	3	0	1	0	0	0	1	1	2	1	2	2	4	3	4	2	4	2	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:130485521C>T	ENST00000373289.3	+	7	861	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	TTC16_ENST00000393748.4_Silent_p.L85L|PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	261							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGCGGGGATCCTGGCTGTGCA	0.632													41	22					0	0	0	0	T	130485521	C	T	130485521	2	4	201	1	0	0	0	0	0	0	0	1	16779	680	24	4		4	TTC16	9	130485521	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	22898694	130485521	10727910	201	36037											
NUP188	23511	broad.mit.edu	37	chr9	131768858	131768858	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactggtgtcctcccctcGccgcagggcaagtccacctc	5	7	10	19	2	0	0	0	0	0	0	5	0	3	0	7	2	0	2	7	2	1	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:131768858G>A	ENST00000372577.2	+	44	5172	c.5151G>A	c.(5149-5151)tcG>tcA	p.S1717S		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1717					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCCTCCCCTCGCCGCAGGGCA	0.612											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	79	53					0	0	0	0	A	131768858	G	A	131768858	2	1	201	1	0	0	0	0	0	0	0	1	10829	1074	38	1		1	NUP188	9	131768858	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	1283337	131768858	9444573	202	36038											
DBH	1621	broad.mit.edu	37	chr9	136522303	136522303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggccctgtacagcttCgcgcccatctccatgcactg	7	9	9	16	2	1	1	0	1	1	0	3	1	1	1	3	1	3	3	3	1	2	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:136522303C>A	ENST00000393056.2	+	11	1686	c.1674C>A	c.(1672-1674)ttC>ttA	p.F558L	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	558					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TGTACAGCTTCGCGCCCATCT	0.632													38	57					2.87052e-16	3.95111e-16	1	0	A	136522303	C	A	136522303	3	1	201	1	0	0	0	0	1	0	0	0	4283	883	31	3	1716	3	DBH	9	136522303	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	4753445	136522303	4691128	203	36039											
GATA3	2625	broad.mit.edu	37	chr10	8100437	8100437	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtctaccccccggcctcGtcctcctccttgtcgggggg	1	10	11	19	4	1	0	0	0	1	0	7	0	5	0	8	4	1	0	8	4	1	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:8100437G>A	ENST00000379328.3	+	3	979	c.411G>A	c.(409-411)tcG>tcA	p.S137S	GATA3_ENST00000346208.3_Silent_p.S137S|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	137	Poly-Ser.				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCCCGGCCTCGTCCTCCTCCT	0.716			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						51	120					0	0	0	0	A	8100437	G	A	8100437	2	1	201	1	0	0	0	0	0	0	0	1	6304	1132	40	1		1	GATA3	10	8100437	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08		8100437	127434310	204	36040											
ACBD7	414149	broad.mit.edu	37	chr10	15120601	15120601	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcgcatcttccgtcgacaaCcctagaaagatacaaacagg	14	7	8	12	3	1	2	0	0	1	2	4	3	2	2	2	1	3	1	2	1	5	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:15120601C>A	ENST00000356189.5	-	4	242	c.193_splice	c.e4-1	p.G65_splice	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	65	ACB.						fatty-acyl-CoA binding			endometrium(1)|lung(4)|prostate(1)	6						CCGTCGACAACCCTAGAAAGA	0.363													56	115					4.48484e-38	7.03411e-38	1	0	A	15120601	C	A	15120601	5	1	201	1	0	0	0	0	0	0	1	0	127	521	18	4	75	4	ACBD7	10	15120601	Splice_Site	SNP	C	TCGA-CR-7374-01A-11D-2012-08	7020164	15120601	120414146	205	36041											
NEBL	10529	broad.mit.edu	37	chr10	21139430	21139430	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattcttctttatatttcAccttcattggaaaaagaaaa	15	16	3	7	0	4	1	2	0	2	1	4	2	4	2	1	1	0	0	1	1	7	9			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:21139430A>G	ENST00000377122.4	-	11	1406	c.1008_splice	c.e11-1	p.V337_splice	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	337					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTATATTTCACCTTCATTGG	0.318													3	117					0	0	0	0	G	21139430	A	G	21139430	5	3	201	1	0	0	0	0	0	0	1	0	10373	173	6	5	2106	5	NEBL	10	21139430	Splice_Site	SNP	A	TCGA-CR-7374-01A-11D-2012-08	6018829	21139430	114395317	206	36042											
ARHGAP21	57584	broad.mit.edu	37	chr10	24884718	24884718	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttatcacattcaaatctcGccatttctaggtgtacaaaa	13	13	5	10	1	4	0	2	0	2	0	5	0	4	0	1	1	1	2	1	1	6	5	rs149363020		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:24884718G>A	ENST00000396432.2	-	19	4126	c.3640C>T	c.(3640-3642)Cga>Tga	p.R1214*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R1001*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1213	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTCAAATCTCGCCATTTCTAG	0.358													27	55					0	0	0	0	A	24884718	G	A	24884718	4	1	201	1	0	0	0	0	0	1	0	0	873	1095	38	1	2268	1	ARHGAP21	10	24884718	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	3745288	24884718	110650029	207	36043											
YME1L1	10730	broad.mit.edu	37	chr10	27434503	27434503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagataatccaaggtccCttaagttaagtgaaggctgt	12	12	10	7	0	1	2	1	1	0	1	3	2	3	2	2	2	0	3	2	2	5	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:27434503C>T	ENST00000326799.3	-	4	504	c.356G>A	c.(355-357)aGg>aAg	p.R119K	YME1L1_ENST00000375972.3_Missense_Mutation_p.R62K|YME1L1_ENST00000376016.3_Missense_Mutation_p.R62K|YME1L1_ENST00000477432.1_3'UTR	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	119					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCCAAGGTCCCTTAAGTTAAG	0.333													21	77					0	0	0	0	T	27434503	C	T	27434503	3	4	201	1	0	0	0	0	1	0	0	0	17583	681	24	4	2033	4	YME1L1	10	27434503	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	2549785	27434503	108100244	208	36044											
ANKRD30A	91074	broad.mit.edu	37	chr10	37438733	37438733	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatgcaaaactctgttcCaaataaagcctttgaattga	16	12	6	7	0	1	3	0	3	1	0	2	3	2	3	2	0	3	2	2	0	7	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:37438733C>A	ENST00000374660.1	+	11	1532	c.1433C>A	c.(1432-1434)cCa>cAa	p.P478Q	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P478Q|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P478Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	534						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACTCTGTTCCAAATAAAGCC	0.294													48	107					3.76997e-23	5.53424e-23	1	0	A	37438733	C	A	37438733	3	1	201	1	0	0	0	0	1	0	0	0	658	594	21	4	1475	4	ANKRD30A	10	37438733	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	10004230	37438733	98096014	209	36045											
FRMPD2	143162	broad.mit.edu	37	chr10	49414961	49414961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaccagcacaccgtattctgGgagctgctgagtgacctgga	10	8	12	11	1	1	2	0	2	1	0	1	4	1	4	3	2	4	4	3	2	2	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:49414961G>T	ENST00000374201.3	-	14	1929	c.1627C>A	c.(1627-1629)Cca>Aca	p.P543T	FRMPD2_ENST00000305531.3_Missense_Mutation_p.P518T|FRMPD2_ENST00000407470.4_Missense_Mutation_p.P511T	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	543	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCGTATTCTGGGAGCTGCTGA	0.498													21	48					5.35047e-06	6.77045e-06	1	0	T	49414961	G	T	49414961	3	4	201	1	0	0	0	0	1	0	0	0	6106	1232	43	4	2366	4	FRMPD2	10	49414961	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	11976228	49414961	86119786	210	36046											
PCDH15	65217	broad.mit.edu	37	chr10	55782945	55782945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaccatttattccagcatCagggtctgttgcctattaaa	10	15	7	9	0	2	1	1	1	1	0	3	1	3	1	3	1	2	2	3	1	4	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:55782945C>T	ENST00000373965.2	-	20	2648	c.2254G>A	c.(2254-2256)Gat>Aat	p.D752N	PCDH15_ENST00000395430.1_Missense_Mutation_p.D745N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D674N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.D745N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D708N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.D745N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D356N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D723N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D745N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D752N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D750N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.D745N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	745	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTCCAGCATCAGGGTCTGTT	0.338										HNSCC(58;0.16)			9	59					0	0	0	0	T	55782945	C	T	55782945	3	4	201	1	0	0	0	0	1	0	0	0	11582	826	29	2	5313	2	PCDH15	10	55782945	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	6367984	55782945	79751802	211	36047											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648067	62648067	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgaaggcttccttgttCatgatgttttccaccatcat	8	17	6	10	0	3	2	3	2	0	0	5	2	5	2	3	1	0	3	3	1	1	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:62648067C>A	ENST00000337910.5	-	6	1696	c.1359G>T	c.(1357-1359)atG>atT	p.M453I	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.M453I	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	453					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CTTCCTTGTTCATGATGTTTT	0.483													28	91					1.50538e-07	1.92948e-07	1	0	A	62648067	C	A	62648067	3	1	201	1	0	0	0	0	1	0	0	0	13416	826	29	2	755	2	RHOBTB1	10	62648067	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	6865122	62648067	72886680	212	36048											
LRRTM3	347731	broad.mit.edu	37	chr10	68687192	68687192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taactccctgagaaccatccCtgtgcgaatattccaagact	12	10	6	13	1	0	2	0	1	0	2	3	4	3	2	4	0	3	0	4	0	5	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:68687192C>T	ENST00000361320.4	+	2	1096	c.518C>T	c.(517-519)cCt>cTt	p.P173L	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	173						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AGAACCATCCCTGTGCGAATA	0.488													17	195					0	0	0	0	T	68687192	C	T	68687192	3	4	201	1	0	0	0	0	1	0	0	0	9105	681	24	4	524	4	LRRTM3	10	68687192	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	6039125	68687192	66847555	213	36049											
TET1	80312	broad.mit.edu	37	chr10	70406353	70406353	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattctcaggtacagttaacGgtgaatgccaatcagaaagc	15	9	9	8	1	2	2	2	1	1	1	3	2	2	2	1	2	4	2	1	2	6	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:70406353G>A	ENST00000373644.4	+	4	4076	c.3867G>A	c.(3865-3867)acG>acA	p.T1289T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1289					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TACAGTTAACGGTGAATGCCA	0.458													8	166					0	0	0	0	A	70406353	G	A	70406353	2	1	201	1	0	0	0	0	0	0	0	1	15863	1103	39	1		1	TET1	10	70406353	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	1719161	70406353	65128394	214	36050											
OIT3	170392	broad.mit.edu	37	chr10	74673213	74673213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttctctctcaagacatgtgGtacagtggtcgatgtaggtt	8	14	11	8	1	2	1	1	0	2	1	5	2	2	1	0	3	1	3	0	3	3	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:74673213G>T	ENST00000334011.5	+	6	1156	c.938G>T	c.(937-939)gGt>gTt	p.G313V		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	313	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AAGACATGTGGTACAGTGGTC	0.557													39	114					1.57019e-19	2.21762e-19	1	0	T	74673213	G	T	74673213	3	4	201	1	0	0	0	0	1	0	0	0	10920	1261	44	4	960	4	OIT3	10	74673213	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	4266860	74673213	60861534	215	36051											
ANXA7	310	broad.mit.edu	37	chr10	75139821	75139821	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccatggtagctctcagctGaggaaagcttcttgtggcaa	9	11	11	10	0	2	1	1	1	2	0	4	2	3	2	1	3	3	5	1	3	3	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:75139821G>A	ENST00000372921.4	-	10	1113	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	ANXA7_ENST00000535178.1_Nonsense_Mutation_p.Q223*	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	375							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					GCTCTCAGCTGAGGAAAGCTT	0.428													101	344					0	0	0	0	A	75139821	G	A	75139821	4	1	201	1	0	0	0	0	0	1	0	0	722	1299	45	2	359	2	ANXA7	10	75139821	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	466608	75139821	60394926	216	36052											
USP54	159195	broad.mit.edu	37	chr10	75277422	75277422	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcaggtgaatggaagaaaGaactggccccaaactctgta	16	6	11	8	0	1	3	0	1	1	2	1	4	1	4	2	3	3	2	2	3	7	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:75277422G>C	ENST00000339859.4	-	19	2862	c.2762C>G	c.(2761-2763)tCt>tGt	p.S921C	USP54_ENST00000394811.2_Missense_Mutation_p.S9C|USP54_ENST00000408019.1_Missense_Mutation_p.S921C|USP54_ENST00000422491.2_Missense_Mutation_p.S103C|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.S771C|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	921					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATGGAAGAAAGAACTGGCCCC	0.512													18	87					0	0	0	0	C	75277422	G	C	75277422	3	2	201	1	0	0	0	0	1	0	0	0	17181	942	33	2	2312	2	USP54	10	75277422	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	137601	75277422	60257325	217	36053											
PTEN	5728	broad.mit.edu	37	chr10	89624270	89624270	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgttagcagaaacaaaaggaGatatcaagaggatggattcg	17	7	12	5	2	1	3	1	0	0	3	2	6	1	5	0	3	2	2	0	3	6	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:89624270G>C	ENST00000371953.3	+	1	1401	c.44G>C	c.(43-45)aGa>aCa	p.R15T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	15	Phosphatase tensin-type.		R -> S (in glioma).		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 cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|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|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain 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.?(13)|p.R15I(3)|p.R15fs*23(1)|p.R15K(1)|p.R14fs*26(1)|p.N12fs*6(1)|p.R14_D22del(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)		AACAAAAGGAGATATCAAGAG	0.478		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)			15	129					0	0	0	0	C	89624270	G	C	89624270	3	2	201	1	0	0	0	0	1	0	0	0	12817	942	33	2	46	2	PTEN	10	89624270	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	14346848	89624270	45910477	218	36054											
ANO9	338440	broad.mit.edu	37	chr11	433389	433389	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggctccaggaggaaaGtgcggtacaggccaaagaca	13	4	13	11	1	1	1	1	0	0	1	2	3	2	3	3	5	2	2	3	5	3	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:433389G>C	ENST00000332826.6	-	4	359	c.275C>G	c.(274-276)aCt>aGt	p.T92S		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	92						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CAGGAGGAAAGTGCGGTACAG	0.647													45	40					0	0	0	0	C	433389	G	C	433389	3	2	201	1	0	0	0	0	1	0	0	0	703	1029	36	4	2153	4	ANO9	11	433389	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08		433389	134573127	219	36055											
EPS8L2	64787	broad.mit.edu	37	chr11	722549	722549	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagagctggatgcggccccGgtagggcagggcagagcagt	9	4	19	9	2	0	2	0	0	0	2	0	4	0	3	2	5	3	5	2	5	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:722549G>A	ENST00000533256.1	+	14	1583	c.1208_splice	c.e14+1	p.R403_splice	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Splice_Site_p.R419_splice|EPS8L2_ENST00000318562.8_Splice_Site_p.R403_splice|EPS8L2_ENST00000530636.1_Splice_Site_p.R403_splice			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	403						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGCGGCCCCGGTAGGGCAGG	0.687													24	22					0	0	0	0	A	722549	G	A	722549	5	1	201	1	0	0	0	0	0	0	1	0	5234	1130	39	1	1254	1	EPS8L2	11	722549	Splice_Site	SNP	G	TCGA-CR-7374-01A-11D-2012-08	289160	722549	134283967	220	36056											
OR51S1	119692	broad.mit.edu	37	chr11	4870420	4870420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctattgggggctatctGagttggtaatgttgacatag	8	14	14	5	0	1	2	0	2	1	0	1	2	1	2	0	3	1	6	0	3	4	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:4870420G>T	ENST00000322101.2	-	1	94	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGGCTATCTGAGTTGGTAAT	0.483													50	120					9.22156e-22	1.33399e-21	1	0	T	4870420	G	T	4870420	3	4	201	1	0	0	0	0	1	0	0	0	11176	1299	45	2	955	2	OR51S1	11	4870420	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	4147871	4870420	130136096	221	36057											
DENND5A	23258	broad.mit.edu	37	chr11	9161320	9161320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgacaagtgtatggtctttGatcagtgccacatcctcata	10	14	8	9	0	3	2	2	2	1	0	4	2	4	2	2	1	1	1	2	1	3	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:9161320G>C	ENST00000328194.3	-	23	4082	c.3762C>G	c.(3760-3762)atC>atG	p.I1254M	DENND5A_ENST00000530044.1_3'UTR|DENND5A_ENST00000527700.1_Missense_Mutation_p.I597M	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1254	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TATGGTCTTTGATCAGTGCCA	0.527													8	68					0	0	0	0	C	9161320	G	C	9161320	3	2	201	1	0	0	0	0	1	0	0	0	4473	1280	45	2	105	2	DENND5A	11	9161320	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	4290900	9161320	125845196	222	36058											
KCNJ11	3767	broad.mit.edu	37	chr11	17409546	17409546	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttggacacaaagcgggccctCcgctggcgggcacggtacct	7	6	14	14	4	0	0	0	0	0	0	1	1	1	1	3	5	2	3	3	5	2	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:17409546C>T	ENST00000339994.4	-	1	660	c.93G>A	c.(91-93)cgG>cgA	p.R31R	KCNJ11_ENST00000528731.1_Intron	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	0						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		AGCGGGCCCTCCGCTGGCGGG	0.652													14	157					0	0	0	0	T	17409546	C	T	17409546	2	4	201	1	0	0	0	0	0	0	0	1	8098	842	30	2		2	KCNJ11	11	17409546	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	8248226	17409546	117596970	223	36059											
ABCC8	6833	broad.mit.edu	37	chr11	17427052	17427052	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtacctggtcgatggTgttacagtcagatgaaaatc	10	12	10	9	1	2	2	1	1	1	1	4	3	2	2	2	2	2	2	2	2	4	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:17427052T>C	ENST00000302539.4	-	27	3516	c.3391A>G	c.(3391-3393)Acc>Gcc	p.T1131A	ABCC8_ENST00000389817.3_Missense_Mutation_p.T1130A	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1130	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGGTCGATGGTGTTACAGTCA	0.542													54	191					0	0	0	0	C	17427052	T	C	17427052	3	2	201	1	0	0	0	0	1	0	0	0	58	1696	59	5	1409	5	ABCC8	11	17427052	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	17506	17427052	117579464	224	36060											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636297	18636298	+	Frame_Shift_Ins	INS	-	-	T																															ctggtcttcctgggactgaaINSttactgacagtccgtccagc																										TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:18636297_18636298insT	ENST00000336349.5	-	3	1758_1759	c.1523_1524insA	c.(1522-1524)atcfs	p.I508fs		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	508	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTGGGACTGAATTACTGACAGT	0.559													33	76	---	---	---	---					T	18636298	-	T	18636297	7	5	201	1	0	1	1	0	0	0	0	0	15216	98	4	0	549	0	SPTY2D1	11	18636297	Frame_Shift_Ins	INS	-	TCGA-CR-7374-01A-11D-2012-08	1209245	18636297	116370219	225	36061											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077336	19077336	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagaggatcctgaccagcAgggccagactggacccacag	12	3	12	14	0	0	3	0	1	0	2	1	5	1	5	4	3	1	1	4	3	0	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:19077336A>T	ENST00000329773.2	-	2	701	c.614T>A	c.(613-615)cTg>cAg	p.L205Q		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	205					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CCTGACCAGCAGGGCCAGACT	0.547													24	48					0	0	0	0	T	19077336	A	T	19077336	3	4	201	1	0	0	0	0	1	0	0	0	9837	188	7	5	382	5	MRGPRX2	11	19077336	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	441039	19077336	115929180	226	36062											
NELL1	4745	broad.mit.edu	37	chr11	21592462	21592462	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggagacaattggacccaTagctgtcagcagtgtcggtg	10	9	14	8	1	1	1	1	0	0	1	2	3	1	2	1	3	2	2	1	3	2	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:21592462T>A	ENST00000298925.5	+	19	2370	c.2217T>A	c.(2215-2217)caT>caA	p.H739Q	NELL1_ENST00000325319.5_Missense_Mutation_p.H654Q|NELL1_ENST00000532434.1_Missense_Mutation_p.H664Q|NELL1_ENST00000357134.5_Missense_Mutation_p.H711Q|NELL1_ENST00000529218.1_3'UTR			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	711	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ATTGGACCCATAGCTGTCAGC	0.448													62	168					0	0	0	0	A	21592462	T	A	21592462	3	1	201	1	0	0	0	0	1	0	0	0	10403	1403	49	5	2203	5	NELL1	11	21592462	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	2515126	21592462	113414054	227	36063											
SVIP	258010	broad.mit.edu	37	chr11	22848863	22848863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctaaaattccccgagatgCagccttgaagaaatttgata	15	11	7	8	1	1	4	0	2	1	2	2	5	2	4	3	0	2	1	3	0	5	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:22848863C>A	ENST00000354193.4	-	3	225	c.109G>T	c.(109-111)Gca>Tca	p.A37S	SVIP_ENST00000533774.1_5'UTR	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	37						Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						CCCCGAGATGCAGCCTTGAAG	0.353													37	137					1.69901e-12	2.27553e-12	1	0	A	22848863	C	A	22848863	3	1	201	1	0	0	0	0	1	0	0	0	15512	710	25	4	132	4	SVIP	11	22848863	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	1256401	22848863	112157653	228	36064											
ANO3	63982	broad.mit.edu	37	chr11	26681844	26681844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attaagtcattcatcgcataCctgattccagacgtaccaaa	14	11	5	11	2	2	2	2	1	0	1	4	2	3	2	3	0	2	2	3	0	4	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:26681844C>T	ENST00000256737.3	+	27	3651	c.2799C>T	c.(2797-2799)taC>taT	p.Y933Y	ANO3_ENST00000537978.1_Silent_p.Y917Y|ANO3_ENST00000531568.1_Silent_p.Y787Y|ANO3_ENST00000525139.1_Silent_p.Y917Y	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	933						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCATCGCATACCTGATTCCAG	0.373													27	90					0	0	0	0	T	26681844	C	T	26681844	2	4	201	1	0	0	0	0	0	0	0	1	697	518	18	4		4	ANO3	11	26681844	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	3832981	26681844	108324672	229	36065											
SLC5A12	159963	broad.mit.edu	37	chr11	26742938	26742938	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttacctcataagtgctggtGataccagatctgtagaacac	12	11	8	10	0	2	3	1	1	1	2	2	3	2	3	2	1	4	2	2	1	5	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:26742938G>A	ENST00000396005.3	-	1	633	c.324C>T	c.(322-324)atC>atT	p.I108I	SLC5A12_ENST00000280467.6_Silent_p.I108I	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	108					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AAGTGCTGGTGATACCAGATC	0.408													20	40					0	0	0	0	A	26742938	G	A	26742938	2	1	201	1	0	0	0	0	0	0	0	1	14752	1280	45	2		2	SLC5A12	11	26742938	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	61094	26742938	108263578	230	36066											
CD44	960	broad.mit.edu	37	chr11	35222735	35222735	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctacttcagacaaccacaagGatgactggtaatgggttctg	12	10	10	9	0	2	2	1	1	1	1	2	3	2	3	1	3	2	2	1	3	4	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:35222735G>A	ENST00000428726.2	+	8	1152	c.1029G>A	c.(1027-1029)agG>agA	p.R343R	CD44_ENST00000449691.2_Silent_p.R343R|CD44_ENST00000437706.2_Silent_p.R343R|CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000433354.2_Silent_p.R343R|CD44_ENST00000415148.2_Silent_p.R300R|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000526669.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	343	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CAACCACAAGGATGACTGGTA	0.463													41	146					0	0	0	0	A	35222735	G	A	35222735	2	1	201	1	0	0	0	0	0	0	0	1	3046	1165	41	2		2	CD44	11	35222735	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	8479797	35222735	99783781	231	36067											
OR5L2	26338	broad.mit.edu	37	chr11	55595390	55595390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagatacactctgcagaGagcaggcacaaagctttctc	13	8	9	11	0	2	3	0	1	2	2	3	4	2	3	0	1	4	4	0	1	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:55595390G>T	ENST00000378397.1	+	1	696	c.696G>T	c.(694-696)gaG>gaT	p.E232D		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ACTCTGCAGAGAGCAGGCACA	0.493										HNSCC(27;0.073)			61	130					3.21867e-24	4.77196e-24	1	0	T	55595390	G	T	55595390	3	4	201	1	0	0	0	0	1	0	0	0	11242	933	33	2	698	2	OR5L2	11	55595390	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	20372655	55595390	79411126	232	36068											
OR8H2	390151	broad.mit.edu	37	chr11	55872670	55872670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgatattgataatccGcctggacctccagcttcaca	10	10	10	11	1	1	2	1	2	0	0	3	4	3	4	4	3	1	1	4	3	2	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:55872670G>T	ENST00000313503.1	+	1	152	c.152G>T	c.(151-153)cGc>cTc	p.R51L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTGATAATCCGCCTGGACCTC	0.428										HNSCC(53;0.14)			80	277					5.42582e-32	8.27056e-32	1	0	T	55872670	G	T	55872670	3	4	201	1	0	0	0	0	1	0	0	0	11309	1087	38	3	154	3	OR8H2	11	55872670	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	277280	55872670	79133846	233	36069											
OR8H2	390151	broad.mit.edu	37	chr11	55872803	55872803	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaactatatttcctttacGggctgctttgcccagatgtt	7	16	7	11	1	0	1	0	0	0	1	2	1	2	1	3	1	4	3	3	1	4	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:55872803G>T	ENST00000313503.1	+	1	285	c.285G>T	c.(283-285)acG>acT	p.T95T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTTCCTTTACGGGCTGCTTTG	0.443										HNSCC(53;0.14)			177	524					4.48366e-97	7.32126e-97	1	0	T	55872803	G	T	55872803	2	4	201	1	0	0	0	0	0	0	0	1	11309	1103	39	3		3	OR8H2	11	55872803	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	133	55872803	79133713	234	36070											
OR8H3	390152	broad.mit.edu	37	chr11	55890000	55890000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgctattgataatccGcctggacctccagcttcaca	9	10	10	12	1	1	1	1	1	0	0	3	3	3	3	4	3	2	2	4	3	2	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:55890000G>T	ENST00000313472.3	+	1	152	c.152G>T	c.(151-153)cGc>cTc	p.R51L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R51L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTGATAATCCGCCTGGACCTC	0.443													33	475					5.82388e-19	8.12889e-19	1	0	T	55890000	G	T	55890000	3	4	201	1	0	0	0	0	1	0	0	0	11310	1087	38	3	154	3	OR8H3	11	55890000	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	17197	55890000	79116516	235	36071											
OR8K5	219453	broad.mit.edu	37	chr11	55927286	55927286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactgatgacattagagcCacagaaggtcaatgtaaaaa	18	8	9	6	0	1	5	1	3	0	2	1	5	1	5	1	1	1	1	1	1	6	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:55927286C>A	ENST00000313447.1	-	1	507	c.508G>T	c.(508-510)Ggc>Tgc	p.G170C		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ACATTAGAGCCACAGAAGGTC	0.388													50	86					8.0703e-11	1.07125e-10	1	0	A	55927286	C	A	55927286	3	1	201	1	0	0	0	0	1	0	0	0	11316	594	21	4	418	4	OR8K5	11	55927286	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	37286	55927286	79079230	236	36072											
OR5M9	390162	broad.mit.edu	37	chr11	56230512	56230512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagggttgcagccggcCatgtacctgtcaaaggccat	10	7	13	11	1	1	1	1	0	0	1	1	1	1	1	4	3	4	4	4	3	2	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:56230512C>A	ENST00000279791.1	-	1	365	c.366G>T	c.(364-366)atG>atT	p.M122I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGCAGCCGGCCATGTACCTGT	0.493													53	125					1.00221e-16	1.38268e-16	1	0	A	56230512	C	A	56230512	3	1	201	1	0	0	0	0	1	0	0	0	11248	594	21	4	568	4	OR5M9	11	56230512	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	303226	56230512	78776004	237	36073											
MS4A14	84689	broad.mit.edu	37	chr11	60183849	60183849	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagttatggaagagaccaaaGaatggaaatctgaggaggaa	19	6	13	3	0	1	3	0	1	1	2	1	8	1	7	1	4	0	1	1	4	7	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:60183849G>C	ENST00000300187.6	+	5	1685	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q	MS4A14_ENST00000395005.2_Missense_Mutation_p.E453Q|MS4A14_ENST00000531783.1_Missense_Mutation_p.E503Q|MS4A14_ENST00000531787.1_Missense_Mutation_p.E358Q	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	470	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AGAGACCAAAGAATGGAAATC	0.388													9	114					0	0	0	0	C	60183849	G	C	60183849	3	2	201	1	0	0	0	0	1	0	0	0	9928	943	33	2	1426	2	MS4A14	11	60183849	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	3953337	60183849	74822667	238	36074											
CPSF7	79869	broad.mit.edu	37	chr11	61179315	61179320	+	In_Frame_Del	DEL	GATGAG	GATGAG	-																															agacagtccttaagagaggaGatgaggacacggcaacgctc																										TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:61179315_61179320delGATGAG	ENST00000340437.4	-	8	1383_1388	c.1303_1308delCTCATC	c.(1303-1308)del	p.LI435del	CPSF7_ENST00000394888.4_In_Frame_Del_p.LI392del|CPSF7_ENST00000448745.1_In_Frame_Del_p.LI383del|CPSF7_ENST00000439958.3_In_Frame_Del_p.LI383del	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	392	Arg-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TAAGAGAGGAGATGAGGACACGGCAA	0.524													29	82	---	---	---	---					-	61179320	GATGAG	-	61179315	7	5	201	1	0	1	0	1	0	0	0	0	3860	932	33	0	244	0	CPSF7	11	61179315	In_Frame_Del	DEL	GATGAG	TCGA-CR-7374-01A-11D-2012-08	995466	61179315	73827201	239	36075											
FIBP	9158	broad.mit.edu	37	chr11	65651446	65651446	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggagcgttgggaggcacctCagtcatgatacaggcgcagg	9	6	16	10	3	2	1	2	1	0	0	2	3	2	3	1	5	2	3	1	5	1	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:65651446C>T	ENST00000338369.2	-	10	1206	c.1094G>A	c.(1093-1095)tGa>tAa	p.*365*	FIBP_ENST00000533045.1_3'UTR|FIBP_ENST00000357519.4_Silent_p.*358*	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	0					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		GGAGGCACCTCAGTCATGATA	0.602											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	77					0	0	0	0	T	65651446	C	T	65651446	2	4	201	1	0	0	0	0	0	0	0	1	5931	837	29	2		2	FIBP	11	65651446	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	4472131	65651446	69355070	240	36076											
NDUFV1	4723	broad.mit.edu	37	chr11	67378581	67378581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagagaacgcaactcaggCaccaaactattcaacatctc	15	6	7	13	1	3	1	2	0	1	1	4	2	3	1	1	2	4	3	1	2	5	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:67378581C>T	ENST00000322776.6	+	6	969	c.816C>T	c.(814-816)ggC>ggT	p.G272G	NDUFV1_ENST00000532303.1_Silent_p.G171G|NDUFV1_ENST00000529927.1_Silent_p.G263G|NDUFV1_ENST00000415352.2_Silent_p.G265G|NDUFV1_ENST00000526169.1_3'UTR	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	272					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GCAACTCAGGCACCAAACTAT	0.542													42	115					0	0	0	0	T	67378581	C	T	67378581	2	4	201	1	0	0	0	0	0	0	0	1	10369	697	25	4		4	NDUFV1	11	67378581	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	1727135	67378581	67627935	241	36077											
PRKRIR	5612	broad.mit.edu	37	chr11	76063227	76063227	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctggccacgacaatactCcatatttaatccccacttct	11	11	4	15	1	1	0	0	0	1	0	3	1	3	0	5	1	2	0	5	1	4	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:76063227C>A	ENST00000260045.3	-	5	1072	c.967G>T	c.(967-969)Gag>Tag	p.E323*		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	323					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CGACAATACTCCATATTTAAT	0.383													41	86					9.55421e-19	1.33045e-18	1	0	A	76063227	C	A	76063227	4	1	201	1	0	0	0	0	0	1	0	0	12606	864	30	2	1322	2	PRKRIR	11	76063227	Nonsense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	8684646	76063227	58943289	242	36078											
PCF11	51585	broad.mit.edu	37	chr11	82879779	82879779	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	accaggacaaatggggggagGaggccctttgagatttgagg	11	7	17	6	0	0	2	0	2	0	1	0	6	0	5	2	7	0	0	2	7	1	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:82879779G>C	ENST00000298281.4	+	8	2854	c.2402G>C	c.(2401-2403)gGa>gCa	p.G801A		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	801	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATGGGGGGAGGAGGCCCTTTG	0.522													7	83					0	0	0	0	C	82879779	G	C	82879779	3	2	201	1	0	0	0	0	1	0	0	0	11644	1174	41	2	2432	2	PCF11	11	82879779	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	6816552	82879779	52126737	243	36079											
SYTL2	54843	broad.mit.edu	37	chr11	85436305	85436305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcacttacatcattcaataCaggtctgggtggaagaatga	14	10	10	7	0	3	2	2	1	1	1	3	3	3	3	0	3	3	1	0	3	5	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:85436305C>T	ENST00000359152.5	-	1	2766	c.2767G>A	c.(2767-2769)Gta>Ata	p.V923I	SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.V399I|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.V399I|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCATTCAATACAGGTCTGGGT	0.468													37	90					0	0	0	0	T	85436305	C	T	85436305	3	4	201	1	0	0	0	0	1	0	0	0	15574	478	17	4	2675	4	SYTL2	11	85436305	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	2556526	85436305	49570211	244	36080											
ME3	10873	broad.mit.edu	37	chr11	86152375	86152378	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															caagtgtagctgtccagtgtAaaggagtcatagtctggagt																										TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:86152375_86152378delAAAG	ENST00000543262.1	-	15	2084_2087	c.1758_1761delCTTT	c.(1756-1761)tcfs	p.SF586fs	ME3_ENST00000359636.2_Frame_Shift_Del_p.SF586fs|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Frame_Shift_Del_p.SF586fs	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	586					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TGTCCAGTGTAAAGGAGTCATAGT	0.51													54	157	---	---	---	---					-	86152378	AAAG	-	86152375	7	5	201	1	0	1	0	1	0	0	0	0	9488	359	13	0	57	0	ME3	11	86152375	Frame_Shift_Del	DEL	AAAG	TCGA-CR-7374-01A-11D-2012-08	716070	86152375	48854141	245	36081											
FOLH1B	219595	broad.mit.edu	37	chr11	89405323	89405326	+	RNA	DEL	TTTA	TTTA	-																															ttggttggttaattatattgTttatttatttttgcatttat																								rs34562444		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:89405323_89405326delTTTA	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aattatattgtttatttatttttg	0.23													2	4	---	---	---	---					-	89405326	TTTA	-	89405323	6	5	201	0	1	1	0	1	0	0	0	0	6025	1740	60	0		0	FOLH1B	11	89405323	RNA	DEL	TTTA	TCGA-CR-7374-01A-11D-2012-08	3252948	89405323	45601193	246	36082											
DYNC2H1	79659	broad.mit.edu	37	chr11	103027117	103027117	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggatattttgtgttaaatagGatttaaatagtcgggcacaa	14	14	10	3	1	0	0	0	0	0	0	1	2	0	2	0	3	0	2	0	3	8	8			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:103027117G>C	ENST00000375735.2	+	26	3889	c.3744_splice	c.e26-1	p.D1249_splice	DYNC2H1_ENST00000398093.3_Splice_Site_p.D1249_splice|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1249	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTTAAATAGGATTTAAATAG	0.284													26	45					0	0	0	0	C	103027117	G	C	103027117	5	2	201	1	0	0	0	0	0	0	1	0	4882	1188	41	2	3847	2	DYNC2H1	11	103027117	Splice_Site	SNP	G	TCGA-CR-7374-01A-11D-2012-08	13621794	103027117	31979399	247	36083											
CASP1	834	broad.mit.edu	37	chr11	104904955	104904955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgagagtcccagcgtcCctgccaggtaactgtcttct	6	11	10	14	1	2	1	0	1	2	1	4	2	4	1	3	1	4	2	3	1	1	2	rs2509649		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:104904955C>T	ENST00000533400.1	-	2	289	c.254G>A	c.(253-255)gGg>gAg	p.G85E	CASP1_ENST00000446369.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.G69E|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.G85E|CASP1_ENST00000436863.3_Missense_Mutation_p.G85E|CASP1_ENST00000393136.4_Missense_Mutation_p.G85E|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.G85E|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Missense_Mutation_p.G85E|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.G46E|CASP1_ENST00000531166.1_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	85	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.G85E(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TCCCAGCGTCCCTGCCAGGTA	0.468													6	270					0	0	0	0	T	104904955	C	T	104904955	3	4	201	1	0	0	0	0	1	0	0	0	2693	623	22	4	992	4	CASP1	11	104904955	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	1877838	104904955	30101561	248	36084											
NPAT	4863	broad.mit.edu	37	chr11	108043717	108043717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtattctcttcttttacaGaagatgaaggctcctgtgaa	11	15	8	7	0	2	4	0	2	2	2	4	4	3	4	1	1	1	2	1	1	6	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:108043717G>A	ENST00000278612.8	-	13	2099	c.1994C>T	c.(1993-1995)tCt>tTt	p.S665F		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	665					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTCTTTTACAGAAGATGAAGG	0.393													5	78					0	0	0	0	A	108043717	G	A	108043717	3	1	201	1	0	0	0	0	1	0	0	0	10636	942	33	2	2313	2	NPAT	11	108043717	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	3138762	108043717	26962799	249	36085											
CBL	867	broad.mit.edu	37	chr11	119144609	119144609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttggaagagctttcgacagGctctacatgaagtgcatccc	10	10	10	11	1	1	2	0	1	1	1	3	4	2	3	1	2	3	3	1	2	3	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:119144609G>C	ENST00000264033.4	+	4	998	c.622G>C	c.(622-624)Gct>Cct	p.A208P		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	208	Cbl-PTB.|EF-hand-like.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTTTCGACAGGCTCTACATGA	0.458			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				24	56					0	0	0	0	C	119144609	G	C	119144609	3	2	201	1	0	0	0	0	1	0	0	0	2725	1203	42	4	636	4	CBL	11	119144609	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	11100892	119144609	15861907	250	36086											
TBCEL	219899	broad.mit.edu	37	chr11	120925915	120925915	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatgtttccttcactggatAccctcgtcctggccaacaat	8	14	6	13	1	1	0	1	0	0	0	4	1	3	1	4	2	2	1	4	2	4	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:120925915A>T	ENST00000422003.2	+	5	798	c.610A>T	c.(610-612)Acc>Tcc	p.T204S	TBCEL_ENST00000529397.1_Missense_Mutation_p.T204S	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	204						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TTCACTGGATACCCTCGTCCT	0.418													40	63					0	0	0	0	T	120925915	A	T	120925915	3	4	201	1	0	0	0	0	1	0	0	0	15729	391	14	5	624	5	TBCEL	11	120925915	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	1781306	120925915	14080601	251	36087											
SORL1	6653	broad.mit.edu	37	chr11	121476228	121476228	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagtacaggttcagtgtctCagcaaggcacacaacaccaa	16	6	8	11	0	2	0	2	0	1	0	3	0	2	0	1	2	3	4	1	2	5	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:121476228C>G	ENST00000260197.7	+	35	5025	c.4896C>G	c.(4894-4896)ctC>ctG	p.L1632L	SORL1_ENST00000525532.1_Silent_p.L576L|SORL1_ENST00000527934.1_Silent_p.L247L|SORL1_ENST00000534286.1_Silent_p.L542L|SORL1_ENST00000532694.1_Silent_p.L478L	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1632	Fibronectin type-III 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCAGTGTCTCAGCAAGGCAC	0.443													29	357					0	0	0	0	G	121476228	C	G	121476228	2	3	201	1	0	0	0	0	0	0	0	1	15022	813	29	2		2	SORL1	11	121476228	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	550313	121476228	13530288	252	36088											
C12orf60	144608	broad.mit.edu	37	chr12	14976373	14976373	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagcaatcagatgtcacCacatctgagagaaccagaag	18	5	9	9	0	3	5	2	1	1	4	3	6	3	5	2	0	2	1	2	0	4	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:14976373C>T	ENST00000330828.2	+	2	708	c.504C>T	c.(502-504)acC>acT	p.T168T	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	168										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CAGATGTCACCACATCTGAGA	0.393													6	77					0	0	0	0	T	14976373	C	T	14976373	2	4	201	1	0	0	0	0	0	0	0	1	1715	581	21	4		4	C12orf60	12	14976373	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08		14976373	118875522	253	36089											
SUOX	6821	broad.mit.edu	37	chr12	56396425	56396425	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caccttctctggtgataactCcagcacccagggatggagag	10	8	11	12	0	1	2	0	1	1	1	3	4	2	3	3	3	2	1	3	3	1	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:56396425C>G	ENST00000394109.3	+	2	873	c.149C>G	c.(148-150)tCc>tGc	p.S50C	SUOX_ENST00000551841.2_Missense_Mutation_p.S50C|SUOX_ENST00000356124.4_Missense_Mutation_p.S50C|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000266971.3_Missense_Mutation_p.S50C|SUOX_ENST00000394115.2_Missense_Mutation_p.S50C|SUOX_ENST00000548274.1_Missense_Mutation_p.S50C			P51687	SUOX_HUMAN	sulfite oxidase	50						mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GGTGATAACTCCAGCACCCAG	0.537													39	201					0	0	0	0	G	56396425	C	G	56396425	3	3	201	1	0	0	0	0	1	0	0	0	15485	855	30	2	155	2	SUOX	12	56396425	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	41420052	56396425	77455470	254	36090											
SMARCC2	6601	broad.mit.edu	37	chr12	56572300	56572300	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctctcccttgttccccgTactgttctcatcctcatcct	3	16	4	18	1	3	0	2	0	2	0	8	0	6	0	5	0	2	4	5	0	1	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:56572300T>C	ENST00000394023.3	-	14	1303	c.1198A>G	c.(1198-1200)Acg>Gcg	p.T400A	SMARCC2_ENST00000347471.4_Missense_Mutation_p.T400A|SMARCC2_ENST00000267064.4_Missense_Mutation_p.T400A|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.T400A	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	400					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGTTCCCCGTACTGTTCTCA	0.542													5	145					0	0	0	0	C	56572300	T	C	56572300	3	2	201	1	0	0	0	0	1	0	0	0	14864	1638	57	5	2603	5	SMARCC2	12	56572300	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	175875	56572300	77279595	255	36091											
LRP1	4035	broad.mit.edu	37	chr12	57548529	57548529	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgggggaaccatgatccAgggccttctggtgagggggg	6	9	19	7	0	1	2	0	2	1	0	2	3	2	3	3	7	1	0	3	7	1	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:57548529A>T	ENST00000554174.1	+	8	1328	c.1272A>T	c.(1270-1272)ccA>ccT	p.P424P	LRP1_ENST00000243077.3_Intron			Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	623					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCATGATCCAGGGCCTTCTG	0.597													3	4					0	0	0	0	T	57548529	A	T	57548529	2	4	201	1	0	0	0	0	0	0	0	1	9015	203	7	5		5	LRP1	12	57548529	Silent	SNP	A	TCGA-CR-7374-01A-11D-2012-08	976229	57548529	76303366	256	36092											
MARS	4141	broad.mit.edu	37	chr12	57883081	57883081	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttatctggctgggagcaaGatgacctcactaaccagtgg	10	10	12	9	0	2	2	1	1	1	1	2	3	2	3	2	3	2	3	2	3	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:57883081G>A	ENST00000315473.5	+	0	257				MARS_ENST00000447721.2_Intron|MARS_ENST00000262027.5_Missense_Mutation_p.D78N			P56192	SYMC_HUMAN	methionyl-tRNA synthetase						methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGGGAGCAAGATGACCTCAC	0.517													11	158					0	0	0	0	A	57883081	G	A	57883081	1	1	201	1	0	0	0	0	0	0	0	0	9385	942	33	2		2	MARS	12	57883081	Translation_Start_Site	SNP	G	TCGA-CR-7374-01A-11D-2012-08	334552	57883081	75968814	257	36093											
NUP107	57122	broad.mit.edu	37	chr12	69109407	69109407	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttttttttcttcttacagGaccctgatgctcccataaga	9	16	5	11	0	2	2	0	1	2	1	3	3	3	3	2	1	2	1	2	1	2	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:69109407G>T	ENST00000229179.4	+	12	1302	c.969_splice	c.e12-1	p.D324_splice	NUP107_ENST00000539906.1_Splice_Site_p.D295_splice|NUP107_ENST00000378905.2_Splice_Site_p.D173_splice	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	324					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTCTTACAGGACCCTGATGC	0.358													49	109					2.0833e-19	2.93533e-19	1	0	T	69109407	G	T	69109407	5	4	201	1	0	0	0	0	0	0	1	0	10824	1188	41	2	1016	2	NUP107	12	69109407	Splice_Site	SNP	G	TCGA-CR-7374-01A-11D-2012-08	11226326	69109407	64742488	258	36094											
TBC1D15	64786	broad.mit.edu	37	chr12	72278770	72278770	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatagcaaactactgattGaatctcttgaaaaatatgtg	16	12	8	5	0	1	4	0	3	1	1	2	5	1	4	0	0	3	1	0	0	7	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:72278770G>T	ENST00000550746.1	+	5	587	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	TBC1D15_ENST00000319106.8_Nonsense_Mutation_p.E183*|TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000485960.2_Nonsense_Mutation_p.E175*	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	175							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACTACTGATTGAATCTCTTGA	0.353													15	77					2.31682e-05	2.91314e-05	1	0	T	72278770	G	T	72278770	4	4	201	1	0	0	0	0	0	1	0	0	15695	1291	45	2	665	2	TBC1D15	12	72278770	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	3169363	72278770	61573125	259	36095											
NAV3	89795	broad.mit.edu	37	chr12	78444768	78444768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtataccacgcctctccGtcgagctgctgtctctaggc	6	11	9	15	3	2	0	0	0	2	0	5	1	2	0	3	1	3	3	3	1	3	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:78444768G>A	ENST00000397909.2	+	11	2530	c.2357G>A	c.(2356-2358)cGt>cAt	p.R786H	NAV3_ENST00000536525.2_Missense_Mutation_p.R786H|NAV3_ENST00000228327.6_Missense_Mutation_p.R786H|NAV3_ENST00000266692.7_Missense_Mutation_p.R786H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	786						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACGCCTCTCCGTCGAGCTGCT	0.557										HNSCC(70;0.22)			17	40					0	0	0	0	A	78444768	G	A	78444768	3	1	201	1	0	0	0	0	1	0	0	0	10255	1145	40	1	2399	1	NAV3	12	78444768	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	6165998	78444768	55407127	260	36096											
CCDC41	51134	broad.mit.edu	37	chr12	94806149	94806149	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttatgatgctcacatcgtaAcctttcatcaattaacattt	12	17	3	9	1	3	1	3	1	0	0	4	1	3	1	1	0	3	2	1	0	4	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:94806149A>T	ENST00000397809.5	-	3	667	c.118T>A	c.(118-120)Tta>Ata	p.L40I	CCDC41_ENST00000339839.5_Missense_Mutation_p.L40I|CCDC41_ENST00000547575.1_Missense_Mutation_p.L40I|CCDC41_ENST00000397807.2_Missense_Mutation_p.L7I	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	32										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TCACATCGTAACCTTTCATCA	0.378													32	116					0	0	0	0	T	94806149	A	T	94806149	3	4	201	1	0	0	0	0	1	0	0	0	2839	40	2	5	2047	5	CCDC41	12	94806149	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	16361381	94806149	39045746	261	36097											
NR1H4	9971	broad.mit.edu	37	chr12	100934551	100934551	+	Frame_Shift_Del	DEL	C	C	-																															agattttcaataagaaacttCcgtctgggcattctgaccta																										TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:100934551delC	ENST00000548884.1	+	9	1562	c.1021delC	c.(1021-1023)cgfs	p.P341fs	NR1H4_ENST00000549996.1_Frame_Shift_Del_p.P294fs|NR1H4_ENST00000392986.3_Frame_Shift_Del_p.P345fs|NR1H4_ENST00000188403.7_Frame_Shift_Del_p.P351fs|NR1H4_ENST00000551379.1_Frame_Shift_Del_p.P355fs	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	355	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TAAGAAACTTCCGTCTGGGCA	0.398													30	81	---	---	---	---					-	100934551	C	-	100934551	7	5	201	1	0	1	0	1	0	0	0	0	10690	855	30	0	1047	0	NR1H4	12	100934551	Frame_Shift_Del	DEL	C	TCGA-CR-7374-01A-11D-2012-08	6128402	100934551	32917344	262	36098											
UTP20	27340	broad.mit.edu	37	chr12	101750774	101750774	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagacattgcacgcagcactCttgcgaaaataatagaggat	15	8	10	8	2	1	2	0	0	1	2	1	5	1	3	0	1	3	3	0	1	4	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:101750774C>G	ENST00000261637.4	+	43	5779	c.5605C>G	c.(5605-5607)Ctt>Gtt	p.L1869V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1869					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACGCAGCACTCTTGCGAAAAT	0.388													28	48					0	0	0	0	G	101750774	C	G	101750774	3	3	201	1	0	0	0	0	1	0	0	0	17195	913	32	2	5775	2	UTP20	12	101750774	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	816223	101750774	32101121	263	36099											
RFX4	5992	broad.mit.edu	37	chr12	107109319	107109319	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccggaaactcatcaccCaatgtaagctgtcccaccag	13	6	7	15	1	2	0	2	0	0	0	3	1	3	1	4	1	3	3	4	1	3	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:107109319C>T	ENST00000392842.1	+	11	1549	c.1135C>T	c.(1135-1137)Caa>Taa	p.Q379*	RFX4_ENST00000357881.4_Nonsense_Mutation_p.Q388*|RFX4_ENST00000229387.5_Nonsense_Mutation_p.Q285*|RP11-144F15.1_ENST00000551505.1_Intron|RP11-482D24.3_ENST00000552415.1_RNA	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	379	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ACTCATCACCCAATGTAAGCT	0.458													49	96					0	0	0	0	T	107109319	C	T	107109319	4	4	201	1	0	0	0	0	0	1	0	0	13347	595	21	4	1350	4	RFX4	12	107109319	Nonsense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	5358545	107109319	26742576	264	36100											
KCTD10	83892	broad.mit.edu	37	chr12	109893929	109893929	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaggctcttaccttggtCtgtttcttctcagtggcata	5	16	9	11	1	4	0	1	0	4	0	6	1	4	0	1	3	1	3	1	3	2	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:109893929C>A	ENST00000228495.6	-	6	998	c.717G>T	c.(715-717)caG>caT	p.Q239H	KCTD10_ENST00000540411.1_Missense_Mutation_p.Q213H|KCTD10_ENST00000540089.1_Missense_Mutation_p.Q58H|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Missense_Mutation_p.Q58H	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	239					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						TTACCTTGGTCTGTTTCTTCT	0.473													25	62					4.7796e-09	6.2062e-09	1	0	A	109893929	C	A	109893929	3	1	201	1	0	0	0	0	1	0	0	0	8150	912	32	2	232	2	KCTD10	12	109893929	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	2784610	109893929	23957966	265	36101											
HPD	3242	broad.mit.edu	37	chr12	122281718	122281718	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagataagaactccaggccTctctctctcaagtggcgaat	12	9	8	12	1	3	2	1	0	2	2	6	3	4	2	2	2	1	0	2	2	4	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:122281718T>C	ENST00000543163.1	-	13	1180	c.735A>G	c.(733-735)agA>agG	p.R245R	HPD_ENST00000289004.4_Silent_p.R284R	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	284					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	ACTCCAGGCCTCTCTCTCTCA	0.537													3	93					0	0	0	0	C	122281718	T	C	122281718	2	2	201	1	0	0	0	0	0	0	0	1	7382	1548	54	5		5	HPD	12	122281718	Silent	SNP	T	TCGA-CR-7374-01A-11D-2012-08	12387789	122281718	11570177	266	36102											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123651318	123651318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatttccgcctgctgacGtctgaagttgctagtgtgct	6	13	11	11	2	1	2	0	2	1	0	2	2	2	2	3	0	4	4	3	0	2	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:123651318G>A	ENST00000606320.1	-	17	2681	c.2475C>T	c.(2473-2475)gaC>gaT	p.D825D	MPHOSPH9_ENST00000541076.2_Silent_p.D795D|MPHOSPH9_ENST00000302349.5_Silent_p.D673D|MPHOSPH9_ENST00000392425.3_Silent_p.D673D			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	673					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GCCTGCTGACGTCTGAAGTTG	0.473													73	146					0	0	0	0	A	123651318	G	A	123651318	2	1	201	1	0	0	0	0	0	0	0	1	9798	1136	40	1		1	MPHOSPH9	12	123651318	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	1369600	123651318	10200577	267	36103											
DNAH10	196385	broad.mit.edu	37	chr12	124408924	124408924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcagaaatgttttcagAcaactttgggcaacttcctg	11	15	7	8	0	2	2	2	0	0	2	3	2	3	2	1	1	2	2	1	1	4	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:124408924A>G	ENST00000409039.3	+	66	11382	c.11357A>G	c.(11356-11358)gAc>gGc	p.D3786G	CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3786					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGTTTTCAGACAACTTTGGG	0.453													14	38					0	0	0	0	G	124408924	A	G	124408924	3	3	201	1	0	0	0	0	1	0	0	0	4635	275	10	5	11619	5	DNAH10	12	124408924	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	757606	124408924	9442971	268	36104											
UBC	7316	broad.mit.edu	37	chr12	125397588	125397588	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtcactgggctcgacctCaagggtgatggtcttgccag	7	10	14	10	1	3	1	2	1	1	0	4	2	3	1	2	3	1	1	2	3	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:125397588C>G	ENST00000536769.1	-	1	2306	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	UBC_ENST00000546120.1_Missense_Mutation_p.E168Q|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.E244Q			P0CG48	UBC_HUMAN	ubiquitin C	244	Ubiquitin-like 4.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGCTCGACCTCAAGGGTGATG	0.512													21	330					0	0	0	0	G	125397588	C	G	125397588	3	3	201	1	0	0	0	0	1	0	0	0	16938	835	29	2	1331	2	UBC	12	125397588	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	988664	125397588	8454307	269	36105											
ATP12A	479	broad.mit.edu	37	chr13	25263504	25263504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtccagcttcaataagatGatccctcaggtgagtggcag	11	10	11	9	0	2	3	2	2	0	1	4	3	4	3	2	2	1	2	2	2	2	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:25263504G>C	ENST00000218548.6	+	5	870	c.537G>C	c.(535-537)atG>atC	p.M179I	ATP12A_ENST00000381946.3_Missense_Mutation_p.M179I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	179					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCAATAAGATGATCCCTCAGG	0.552													20	124					0	0	0	0	C	25263504	G	C	25263504	3	2	201	1	0	0	0	0	1	0	0	0	1126	1290	45	2	555	2	ATP12A	13	25263504	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08		25263504	89906374	270	36106											
MTUS2	23281	broad.mit.edu	37	chr13	29599738	29599738	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaaactggaagcacaattAggtcagggaaagggagaggc	16	5	15	5	0	1	1	1	0	0	1	1	4	1	3	0	5	2	2	0	5	6	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:29599738A>T	ENST00000431530.3	+	1	991	c.933A>T	c.(931-933)ttA>ttT	p.L311F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	301						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAGCACAATTAGGTCAGGGAA	0.517													19	24					0	0	0	0	T	29599738	A	T	29599738	3	4	201	1	0	0	0	0	1	0	0	0	10036	417	15	5	935	5	MTUS2	13	29599738	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	4336234	29599738	85570140	271	36107											
N4BP2L2	10443	broad.mit.edu	37	chr13	33016826	33016826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagattcgaaagtcaaaaaCagtttcttgtttgtaaaaga	16	13	8	4	1	2	2	1	1	1	2	3	4	2	2	0	0	1	3	0	0	5	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:33016826C>T	ENST00000357505.6	-	7	1907	c.1803G>A	c.(1801-1803)ctG>ctA	p.L601L	N4BP2L2_ENST00000399396.3_Silent_p.L616L|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000504114.1_Silent_p.L601L	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AAGTCAAAAACAGTTTCTTGT	0.323													25	30					0	0	0	0	T	33016826	C	T	33016826	2	4	201	1	0	0	0	0	0	0	0	1	10182	465	17	4		4	N4BP2L2	13	33016826	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	3417088	33016826	82153052	272	36108											
PDS5B	23047	broad.mit.edu	37	chr13	33281144	33281144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgagggtgttccaactgatCaagccatcagagcaggtctt	11	10	11	9	0	3	3	2	2	1	1	4	3	4	3	2	2	3	2	2	2	2	2	rs141013786	by1000genomes	TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:33281144C>G	ENST00000315596.10	+	18	2116	c.1930C>G	c.(1930-1932)Caa>Gaa	p.Q644E		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	644					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TCCAACTGATCAAGCCATCAG	0.313													12	73					0	0	0	0	G	33281144	C	G	33281144	3	3	201	1	0	0	0	0	1	0	0	0	11763	827	29	2	1996	2	PDS5B	13	33281144	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	264318	33281144	81888734	273	36109											
STOML3	161003	broad.mit.edu	37	chr13	39564848	39564848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcaggtgaagacaccCtagaatccatctcattcttg	10	12	7	12	0	3	3	2	1	3	2	6	3	4	3	2	1	0	1	2	1	3	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:39564848C>A	ENST00000379631.4	-	1	355	c.11G>T	c.(10-12)aGg>aTg	p.R4M	STOML3_ENST00000423210.1_De_novo_Start_InFrame	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	4						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TGAAGACACCCTAGAATCCAT	0.408													10	98					0.000219431	0.000272461	1	0	A	39564848	C	A	39564848	3	1	201	1	0	0	0	0	1	0	0	0	15405	681	24	4	921	4	STOML3	13	39564848	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	6283704	39564848	75605030	274	36110											
RB1	5925	broad.mit.edu	37	chr13	48955580	48955580	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcccttgcatggctctcaGtaagtagctaaataattgaa	14	12	7	8	0	1	1	1	1	1	0	3	1	2	1	1	1	2	5	1	1	7	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:48955580G>A	ENST00000267163.4	+	17	1833		c.e17+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGGCTCTCAGTAAGTAGCTA	0.343		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			13	15					0	0	0	0	A	48955580	G	A	48955580	5	1	201	1	0	0	0	0	0	0	1	0	13180	1043	36	4	1762	4	RB1	13	48955580	Splice_Site	SNP	G	TCGA-CR-7374-01A-11D-2012-08	9390732	48955580	66214298	275	36111											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281892	49281892	+	Missense_Mutation	SNP	G	G	T																															tttgctggggagaattttaaGgacagactaaagtctgcact																										TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:49281892G>T	ENST00000282018.3	+	1	942	c.939G>T	c.(937-939)aaG>aaT	p.K313N		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	313					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	AGAATTTTAAGGACAGACTAA	0.443													55	50					1.67753e-36	2.60366e-36	1	0	T	49281892	G	T	49281892	3	4	201	1	0	0	0	0	1	0	0	0	4234	991	35	4	941	4	CYSLTR2	13	49281892	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	326312	49281892	65887986	276	36112	279	2									
CYSLTR2	57105	broad.mit.edu	37	chr13	49281893	49281893	+	Missense_Mutation	SNP	G	G	T																															ttgctggggagaattttaagGacagactaaagtctgcactc																										TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:49281893G>T	ENST00000282018.3	+	1	943	c.940G>T	c.(940-942)Gac>Tac	p.D314Y		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	314					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GAATTTTAAGGACAGACTAAA	0.443													56	50					1.0331e-37	1.61184e-37	1	0	T	49281893	G	T	49281893	3	4	201	1	0	0	0	0	1	0	0	0	4234	1174	41	2	942	2	CYSLTR2	13	49281893	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	1	49281893	65887985	277	36113	279	2									
ALG11	440138	broad.mit.edu	37	chr13	52593200	52593200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaaatcaaatggtgattGcattttttcatccatactgc	13	14	7	7	0	2	1	2	1	0	0	3	2	3	2	1	2	3	1	1	2	4	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:52593200G>A	ENST00000521508.1	+	2	201	c.196G>A	c.(196-198)Gca>Aca	p.A66T	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		AATGGTGATTGCATTTTTTCA	0.393													31	32					0	0	0	0	A	52593200	G	A	52593200	3	1	201	1	0	0	0	0	1	0	0	0	513	1319	46	4	202	4	ALG11	13	52593200	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	3311307	52593200	62576678	278	36114											
PCCA	5095	broad.mit.edu	37	chr13	100807338	100807338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagccattaagaaaaccaggGcccaagctgtgagtctgaat	15	7	10	9	0	1	3	0	2	1	1	1	3	1	3	3	1	3	1	3	1	6	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:100807338G>T	ENST00000376285.1	+	5	444	c.406G>T	c.(406-408)Gcc>Tcc	p.A136S	PCCA_ENST00000376279.3_Missense_Mutation_p.A136S|PCCA_ENST00000376286.4_Missense_Mutation_p.A110S|PCCA_ENST00000485946.1_3'UTR	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	136	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GAAAACCAGGGCCCAAGCTGT	0.423													103	52					7.34945e-47	1.17434e-46	1	0	T	100807338	G	T	100807338	3	4	201	1	0	0	0	0	1	0	0	0	11575	1203	42	4	424	4	PCCA	13	100807338	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	48214138	100807338	14362540	279	36115											
POTEG	404785	broad.mit.edu	37	chr14	19553818	19553818	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggagccgaggtaccaCgtccgtcgagaagatctgga	10	8	13	10	4	2	2	1	0	1	2	4	6	3	4	3	3	2	1	3	3	2	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:19553818C>G	ENST00000409832.3	+	1	454	c.402C>G	c.(400-402)caC>caG	p.H134Q		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	134										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CGAGGTACCACGTCCGTCGAG	0.587													35	639					0	0	0	0	G	19553818	C	G	19553818	3	3	201	1	0	0	0	0	1	0	0	0	12338	535	19	3	404	3	POTEG	14	19553818	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08		19553818	87795722	280	36116											
FOXG1	2290	broad.mit.edu	37	chr14	29237608	29237608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacggggagatcccgtacGccacgcaccacctcacggcc	9	4	10	18	5	2	1	2	0	0	1	3	2	3	1	5	3	2	2	5	3	2	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:29237608G>T	ENST00000382535.3	+	2	1492	c.1123G>T	c.(1123-1125)Gcc>Tcc	p.A375S	FOXG1_ENST00000313071.4_Missense_Mutation_p.A375S			P55316	FOXG1_HUMAN	forkhead box G1	375					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GATCCCGTACGCCACGCACCA	0.677													40	88					2.75727e-19	3.86667e-19	1	0	T	29237608	G	T	29237608	3	4	201	1	0	0	0	0	1	0	0	0	6054	1087	38	3	1125	3	FOXG1	14	29237608	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	9683790	29237608	78111932	281	36117											
FOXA1	3169	broad.mit.edu	37	chr14	38060620	38060620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacaccttggtagtacgccgGctccagggctgagggctcga	7	7	14	13	3	0	1	0	1	0	0	2	2	1	1	3	4	1	5	3	4	2	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:38060620G>A	ENST00000250448.2	-	2	1430	c.1369C>T	c.(1369-1371)Ccg>Tcg	p.P457S	FOXA1_ENST00000540786.1_Missense_Mutation_p.P424S|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	457					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TAGTACGCCGGCTCCAGGGCT	0.612													4	103					0	0	0	0	A	38060620	G	A	38060620	3	1	201	1	0	0	0	0	1	0	0	0	6034	1203	42	4	53	4	FOXA1	14	38060620	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	8823012	38060620	69288920	282	36118											
SLC35F4	341880	broad.mit.edu	37	chr14	58060786	58060786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctactgatgccactgtGtgaactggggcagttggctc	6	13	13	9	0	1	2	0	2	1	0	2	2	1	2	1	3	3	3	1	3	2	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:58060786G>A	ENST00000556826.1	-	2	396	c.160C>T	c.(160-162)Cac>Tac	p.H54Y	SLC35F4_ENST00000339762.6_Missense_Mutation_p.H90Y|SLC35F4_ENST00000557430.1_5'UTR|SLC35F4_ENST00000554729.1_5'UTR	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGCCACTGTGTGAACTGGGG	0.488													18	27					0	0	0	0	A	58060786	G	A	58060786	3	1	201	1	0	0	0	0	1	0	0	0	14679	1377	48	4	1325	4	SLC35F4	14	58060786	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	20000166	58060786	49288754	283	36119											
SYT16	83851	broad.mit.edu	37	chr14	62550913	62550913	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgttgttcttcccctccaGagtggagggtctccgctcag	4	14	11	12	1	3	1	1	0	2	1	6	2	5	2	4	2	0	3	4	2	0	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:62550913G>A	ENST00000430451.2	+	5	1631		c.e5-1			NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI											central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTCCCCTCCAGAGTGGAGGGT	0.522													42	148					0	0	0	0	A	62550913	G	A	62550913	5	1	201	1	0	0	0	0	0	0	1	0	15563	956	33	2	1452	2	SYT16	14	62550913	Splice_Site	SNP	G	TCGA-CR-7374-01A-11D-2012-08	4490127	62550913	44798627	284	36120											
ZBTB25	7597	broad.mit.edu	37	chr14	64954378	64954378	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgctcctccagggcctGggtggcaggacaggccctct	4	8	15	14	0	1	0	0	0	1	0	3	1	3	1	4	6	1	2	4	6	0	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:64954378G>A	ENST00000394715.1	-	6	1272	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	ZBTB25_ENST00000261683.2_Nonsense_Mutation_p.Q191*|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	191						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TCCAGGGCCTGGGTGGCAGGA	0.592													141	286					0	0	0	0	A	64954378	G	A	64954378	4	1	201	1	0	0	0	0	0	1	0	0	17627	1357	47	4	740	4	ZBTB25	14	64954378	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	2403465	64954378	42395162	285	36121											
PLEKHH1	57475	broad.mit.edu	37	chr14	68029252	68029252	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacaaagacctctgccAgggaaggtggtcctggcagc	9	6	15	11	0	1	1	0	0	1	1	2	3	2	3	3	5	2	1	3	5	2	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:68029252A>T	ENST00000329153.5	+	7	1036	c.904A>T	c.(904-906)Agg>Tgg	p.R302W		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	302						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GACCTCTGCCAGGGAAGGTGG	0.592													15	49					0	0	0	0	T	68029252	A	T	68029252	3	4	201	1	0	0	0	0	1	0	0	0	12148	179	7	5	926	5	PLEKHH1	14	68029252	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	3074874	68029252	39320288	286	36122											
SLC39A9	55334	broad.mit.edu	37	chr14	69919976	69919976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatccagaagcagcaaggtCtagcaattccaaaatcacca	17	6	7	11	0	2	2	1	0	1	2	4	2	4	2	3	1	3	3	3	1	6	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:69919976C>G	ENST00000031146.4	+	3	902	c.224C>G	c.(223-225)tCt>tGt	p.S75C	SLC39A9_ENST00000556605.1_Missense_Mutation_p.S141C|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000336643.5_Missense_Mutation_p.S141C|SLC39A9_ENST00000557046.1_Intron			Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	90					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		GCAGCAAGGTCTAGCAATTCC	0.453													7	199					0	0	0	0	G	69919976	C	G	69919976	3	3	201	1	0	0	0	0	1	0	0	0	14713	913	32	2	436	2	SLC39A9	14	69919976	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	1890724	69919976	37429564	287	36123											
FLRT2	23768	broad.mit.edu	37	chr14	86088200	86088200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccaagaatgtcagagttctCcatttgcaggaaaacaatat	15	10	7	9	0	2	2	1	0	1	2	3	3	2	3	2	1	2	2	2	1	6	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:86088200C>T	ENST00000330753.4	+	2	1109	c.342C>T	c.(340-342)ctC>ctT	p.L114L	FLRT2_ENST00000554746.1_Silent_p.L114L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	114					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)		TCAGAGTTCTCCATTTGCAGG	0.493													61	133					0	0	0	0	T	86088200	C	T	86088200	2	4	201	1	0	0	0	0	0	0	0	1	5984	842	30	2		2	FLRT2	14	86088200	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	16168224	86088200	21261340	288	36124											
PTPN21	11099	broad.mit.edu	37	chr14	88983571	88983571	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacccaccggcgctgatttTgcttgttgtagtaccagagg	7	12	11	11	2	0	2	0	1	0	1	0	2	0	2	3	2	3	5	3	2	3	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:88983571T>G	ENST00000556564.1	-	3	499	c.215A>C	c.(214-216)cAa>cCa	p.Q72P	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.Q72P	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	72	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCGCTGATTTTGCTTGTTGTA	0.423													50	112					0	0	0	0	G	88983571	T	G	88983571	3	3	201	1	0	0	0	0	1	0	0	0	12868	1812	63	5	3377	5	PTPN21	14	88983571	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	2895371	88983571	18365969	289	36125											
ATXN3	4287	broad.mit.edu	37	chr14	92560173	92560173	+	Frame_Shift_Del	DEL	A	A	-																															actttcaaggcattgcttatAacctgttaagaaaaatagca																										TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:92560173delA	ENST00000545170.1	-	4	305	c.237delT	c.(235-237)gtfs	p.V79fs	ATXN3_ENST00000532032.1_Frame_Shift_Del_p.V79fs|ATXN3_ENST00000393287.5_Frame_Shift_Del_p.V79fs|ATXN3_ENST00000340660.6_Frame_Shift_Del_p.V24fs|ATXN3_ENST00000503767.1_Frame_Shift_Del_p.V64fs|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000429774.2_Frame_Shift_Del_p.V64fs|ATXN3_ENST00000554491.1_5'UTR	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	79	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		CATTGCTTATAACCTGTTAAG	0.353													32	78	---	---	---	---					-	92560173	A	-	92560173	7	5	201	1	0	1	0	1	0	0	0	0	1217	349	13	0	880	0	ATXN3	14	92560173	Frame_Shift_Del	DEL	A	TCGA-CR-7374-01A-11D-2012-08	3576602	92560173	14789367	290	36126											
CPSF2	53981	broad.mit.edu	37	chr14	92625450	92625450	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacacaggggttattttaGaagaaggagaactaaaggat	16	9	13	3	0	0	3	0	0	0	3	0	6	0	5	0	5	1	1	0	5	7	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:92625450G>T	ENST00000298875.4	+	14	2230	c.1945G>T	c.(1945-1947)Gaa>Taa	p.E649*		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	649					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGTTATTTTAGAAGAAGGAGA	0.413													31	62					6.04164e-23	8.84722e-23	1	0	T	92625450	G	T	92625450	4	4	201	1	0	0	0	0	0	1	0	0	3855	943	33	2	1991	2	CPSF2	14	92625450	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	65277	92625450	14724090	291	36127											
BTBD7	55727	broad.mit.edu	37	chr14	93754978	93754978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttatccttggatgggttttCatatttaagattgaggcagt	9	17	11	4	0	1	2	1	1	0	1	2	3	2	3	1	3	0	3	1	3	3	8			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:93754978C>T	ENST00000555525.1	-	3	1367	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	BTBD7_ENST00000334746.5_Intron|BTBD7_ENST00000298896.3_3'UTR|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000393170.2_Intron			Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	0										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		gatgggttttcatatttaaga	0.433													41	168					0	0	0	0	T	93754978	C	T	93754978	3	4	201	1	0	0	0	0	1	0	0	0	1555	841	29	2		2	BTBD7	14	93754978	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	1129528	93754978	13594562	292	36128											
RCOR1	23186	broad.mit.edu	37	chr14	103188673	103188673	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaggcagaacatggtaaaGaagagaccaatgggcccagt	15	4	15	7	0	0	3	0	0	0	3	0	5	0	4	2	4	1	2	2	4	5	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:103188673G>C	ENST00000262241.6	+	11	1565	c.1339G>C	c.(1339-1341)Gaa>Caa	p.E447Q	RCOR1_ENST00000570597.1_Missense_Mutation_p.E444Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	444					blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ACATGGTAAAGAAGAGACCAA	0.413													21	277					0	0	0	0	C	103188673	G	C	103188673	3	2	201	1	0	0	0	0	1	0	0	0	13264	943	33	2	1372	2	RCOR1	14	103188673	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	9433695	103188673	4160867	293	36129											
GJD2	57369	broad.mit.edu	37	chr15	35045073	35045073	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggagatgccttcctgcCttctgagcttggattttgat	6	14	12	9	1	1	3	0	2	1	1	2	5	2	4	3	2	4	1	3	2	0	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:35045073C>A	ENST00000290374.4	-	2	1048	c.572G>T	c.(571-573)aGg>aTg	p.R191M		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	191					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.R191K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCCTTCCTGCCTTCTGAGCTT	0.478													91	142					2.06477e-34	3.18808e-34	1	0	A	35045073	C	A	35045073	3	1	201	1	0	0	0	0	1	0	0	0	6468	681	24	4	397	4	GJD2	15	35045073	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08		35045073	67486319	294	36130											
BUB1B	701	broad.mit.edu	37	chr15	40462766	40462766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctggacagagcagaactatCctcaaggtgggaaggagagt	13	6	15	7	0	1	3	1	0	0	3	2	6	2	5	1	4	2	2	1	4	4	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:40462766C>T	ENST00000287598.6	+	4	463	c.268C>T	c.(268-270)Cct>Tct	p.P90S	BUB1B_ENST00000412359.3_Missense_Mutation_p.P104S|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	90	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GCAGAACTATCCTCAAGGTGG	0.373			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				10	104					0	0	0	0	T	40462766	C	T	40462766	3	4	201	1	0	0	0	0	1	0	0	0	1580	855	30	2	282	2	BUB1B	15	40462766	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	5417693	40462766	62068626	295	36131											
GANC	2595	broad.mit.edu	37	chr15	42632035	42632035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatccgagaagccatcaGagagcgctatggcctcctgc	10	7	10	14	2	2	2	2	0	0	2	4	4	4	2	4	1	3	1	4	1	2	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:42632035G>T	ENST00000318010.8	+	17	2252	c.2012G>T	c.(2011-2013)aGa>aTa	p.R671I		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	671					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GAAGCCATCAGAGAGCGCTAT	0.542													40	75					7.53189e-24	1.1139e-23	1	0	T	42632035	G	T	42632035	3	4	201	1	0	0	0	0	1	0	0	0	6283	942	33	2	2078	2	GANC	15	42632035	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	2169269	42632035	59899357	296	36132											
SLC12A1	6557	broad.mit.edu	37	chr15	48577394	48577394	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtggaggcatccgaggCttgtttaaaaaagctggcaa	14	8	13	6	1	0	0	0	0	0	0	1	3	1	1	1	4	1	5	1	4	5	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:48577394C>T	ENST00000396577.3	+	21	2792	c.2577C>T	c.(2575-2577)ggC>ggT	p.G859G	SLC12A1_ENST00000558405.1_Silent_p.G859G|SLC12A1_ENST00000380993.3_Silent_p.G859G	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	859					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GCATCCGAGGCTTGTTTAAAA	0.363													66	131					0	0	0	0	T	48577394	C	T	48577394	2	4	201	1	0	0	0	0	0	0	0	1	14470	784	28	4		4	SLC12A1	15	48577394	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	5945359	48577394	53953998	297	36133											
FBN1	2200	broad.mit.edu	37	chr15	48730063	48730063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgatttctggatttgggtGatgaacactttcctccttca	8	16	9	8	0	2	3	1	3	1	0	4	4	4	4	2	2	1	0	2	2	1	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:48730063G>A	ENST00000316623.5	-	51	6670	c.6215C>T	c.(6214-6216)tCa>tTa	p.S2072L		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2072	TB 8.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGATTTGGGTGATGAACACTT	0.502													14	167					0	0	0	0	A	48730063	G	A	48730063	3	1	201	1	0	0	0	0	1	0	0	0	5747	1294	45	2	2464	2	FBN1	15	48730063	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	152669	48730063	53801329	298	36134											
USP8	9101	broad.mit.edu	37	chr15	50773685	50773685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgttgctctagattgatcGtactaaaaaaccagcagtca	13	13	7	8	1	2	2	1	1	1	1	3	2	2	2	1	0	4	4	1	0	5	6	rs114434131	by1000genomes	TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:50773685G>T	ENST00000433963.1	+	12	1726	c.1226G>T	c.(1225-1227)cGt>cTt	p.R409L	USP8_ENST00000396444.3_Missense_Mutation_p.R409L|USP8_ENST00000307179.4_Missense_Mutation_p.R409L|USP8_ENST00000425032.3_Missense_Mutation_p.R332L	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	409					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TAGATTGATCGTACTAAAAAA	0.358													15	25					1.52009e-12	2.04048e-12	1	0	T	50773685	G	T	50773685	3	4	201	1	0	0	0	0	1	0	0	0	17185	1145	40	3	1264	3	USP8	15	50773685	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	2043622	50773685	51757707	299	36135											
TRPM7	54822	broad.mit.edu	37	chr15	50902065	50902065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcatccattgtcatctgatGagcatcttgagattgtggga	9	14	11	7	0	4	3	2	3	2	1	5	5	5	4	1	1	1	1	1	1	0	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:50902065G>A	ENST00000313478.7	-	18	2655	c.2374C>T	c.(2374-2376)Cat>Tat	p.H792Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.H792Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	792					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GTCATCTGATGAGCATCTTGA	0.358													35	88					0	0	0	0	A	50902065	G	A	50902065	3	1	201	1	0	0	0	0	1	0	0	0	16686	1290	45	2	3311	2	TRPM7	15	50902065	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	128380	50902065	51629327	300	36136											
PRTG	283659	broad.mit.edu	37	chr15	55929374	55929374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttatgatatttaccttcacGgtgtaagacctgccactctc	9	15	6	11	1	2	2	1	1	1	1	3	2	2	2	3	1	2	1	3	1	4	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:55929374G>T	ENST00000389286.4	-	15	2664	c.2617C>A	c.(2617-2619)Cgt>Agt	p.R873S		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	873	Fibronectin type-III 5.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TTACCTTCACGGTGTAAGACC	0.393													53	109					5.13769e-22	7.45027e-22	1	0	T	55929374	G	T	55929374	3	4	201	1	0	0	0	0	1	0	0	0	12717	1116	39	3	859	3	PRTG	15	55929374	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	5027309	55929374	46602018	301	36137											
FAM63B	54629	broad.mit.edu	37	chr15	59146757	59146757	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acgtaaacggaaggaaccacGagaaaaagataaagaaaaag	24	2	10	5	3	0	3	0	0	0	3	0	6	0	5	1	2	2	1	1	2	10	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:59146757G>C	ENST00000559228.1	+	9	1896	c.1814G>C	c.(1813-1815)cGa>cCa	p.R605P	FAM63B_ENST00000450403.2_Missense_Mutation_p.R604P			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	605										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AAGGAACCACGAGAAAAAGAT	0.383													12	67					0	0	0	0	C	59146757	G	C	59146757	3	2	201	1	0	0	0	0	1	0	0	0	5643	1058	37	3	1848	3	FAM63B	15	59146757	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	3217383	59146757	43384635	302	36138											
GTF2A2	2958	broad.mit.edu	37	chr15	59934436	59934436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagtccacacattatcgCagaatctgtacgtatttaga	15	11	6	9	2	1	2	0	0	1	2	3	2	2	2	1	0	1	3	1	0	7	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:59934436C>A	ENST00000396060.2	-	4	384	c.203G>T	c.(202-204)tGc>tTc	p.C68F	GTF2A2_ENST00000396064.3_Intron|GTF2A2_ENST00000484743.1_Missense_Mutation_p.C33F|GTF2A2_ENST00000396061.1_Missense_Mutation_p.C68F|GTF2A2_ENST00000396063.1_Missense_Mutation_p.C68F|GTF2A2_ENST00000267869.4_5'UTR	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	68					interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity			central_nervous_system(2)|kidney(2)|lung(1)	5						CACATTATCGCAGAATCTGTA	0.343													37	104					3.76114e-14	5.10623e-14	1	0	A	59934436	C	A	59934436	3	1	201	1	0	0	0	0	1	0	0	0	6904	710	25	4	134	4	GTF2A2	15	59934436	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	787679	59934436	42596956	303	36139											
MAP2K1	5604	broad.mit.edu	37	chr15	66777514	66777514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccaggccaaggacccccGggaggccccttagctgtgag	8	4	13	16	1	0	1	0	1	0	0	0	3	0	3	6	4	1	1	6	4	2	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:66777514G>A	ENST00000307102.5	+	7	1411	c.880G>A	c.(880-882)Ggg>Agg	p.G294R	MAP2K1_ENST00000566326.1_Missense_Mutation_p.G118R	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	294	Pro-rich.|Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						AAGGACCCCCGGGAGGCCCCT	0.607													21	79					0	0	0	0	A	66777514	G	A	66777514	3	1	201	1	0	0	0	0	1	0	0	0	9305	1116	39	1	906	1	MAP2K1	15	66777514	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	6843078	66777514	35753878	304	36140											
RASGRF1	5923	broad.mit.edu	37	chr15	79292109	79292109	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggctaaggacatcctccGgtacttctccttgtttgggg	6	13	11	11	1	1	0	0	0	1	0	4	1	3	1	3	5	1	3	3	5	2	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:79292109G>T	ENST00000419573.3	-	18	3044	c.2770C>A	c.(2770-2772)Cgg>Agg	p.R924R	RASGRF1_ENST00000394745.3_Silent_p.R140R|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.R908R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	926					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GACATCCTCCGGTACTTCTCC	0.607													38	120					9.8876e-21	1.42e-20	1	0	T	79292109	G	T	79292109	2	4	201	1	0	0	0	0	0	0	0	1	13154	1115	39	3		3	RASGRF1	15	79292109	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	12514595	79292109	23239283	305	36141											
EFTUD1	79631	broad.mit.edu	37	chr15	82523196	82523196	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tataccacattacctgatcaCccttcatgatctttttagcc	10	15	3	13	0	3	2	2	2	1	0	3	2	3	2	4	0	3	0	4	0	4	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:82523196C>A	ENST00000268206.7	-	8	1016	c.848G>T	c.(847-849)gGt>gTt	p.G283V	EFTUD1_ENST00000561331.1_5'UTR|EFTUD1_ENST00000359445.3_Missense_Mutation_p.G232V	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	283					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	p.G283D(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TACCTGATCACCCTTCATGAT	0.323													8	135					0.00307968	0.00376125	1	0	A	82523196	C	A	82523196	3	1	201	1	0	0	0	0	1	0	0	0	4996	507	18	4	2566	4	EFTUD1	15	82523196	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	3231087	82523196	20008196	306	36142											
MRPS11	64963	broad.mit.edu	37	chr15	89015921	89015921	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggaaagaaatttgaggaGatcccaattgcacacattaa	17	8	9	7	0	0	3	0	1	0	2	1	5	1	4	1	2	1	2	1	2	4	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:89015921G>A	ENST00000325844.4	+	3	511	c.246G>A	c.(244-246)gaG>gaA	p.E82E	MRPS11_ENST00000353598.6_Intron|MRPS11_ENST00000557974.1_Intron	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	82					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AATTTGAGGAGATCCCAATTG	0.443													4	56					0	0	0	0	A	89015921	G	A	89015921	2	1	201	1	0	0	0	0	0	0	0	1	9892	933	33	2		2	MRPS11	15	89015921	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	6492725	89015921	13515471	307	36143											
MFGE8	4240	broad.mit.edu	37	chr15	89453073	89453073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaggcacgtgcaggtgtacGaggggaagacatctcctcgc	10	7	14	10	3	1	1	0	0	1	1	3	3	1	2	1	4	2	3	1	4	3	2	rs145851768		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:89453073G>A	ENST00000539437.1	-	3	267	c.131C>T	c.(130-132)tCg>tTg	p.S44L	MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Missense_Mutation_p.S52L|MFGE8_ENST00000566497.1_Missense_Mutation_p.S52L|MFGE8_ENST00000268150.8_Missense_Mutation_p.S52L|MFGE8_ENST00000542878.1_Intron			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	52	EGF-like.				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)					GCAGGTGTACGAGGGGAAGAC	0.542													38	225					0	0	0	0	A	89453073	G	A	89453073	3	1	201	1	0	0	0	0	1	0	0	0	9589	1059	37	1	1036	1	MFGE8	15	89453073	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	437152	89453073	13078319	308	36144											
FANCI	55215	broad.mit.edu	37	chr15	89837176	89837176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatggccaacaagacaagtGatagtcttttgtccatgaaa	16	10	8	7	0	1	3	0	2	1	1	2	3	2	3	2	1	1	0	2	1	6	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:89837176G>A	ENST00000310775.7	+	23	2490	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	FANCI_ENST00000300027.8_Missense_Mutation_p.D802N	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	802					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAAGACAAGTGATAGTCTTTT	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				27	139					0	0	0	0	A	89837176	G	A	89837176	3	1	201	1	0	0	0	0	1	0	0	0	5714	1290	45	2	2490	2	FANCI	15	89837176	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	384103	89837176	12694216	309	36145											
POLG	5428	broad.mit.edu	37	chr15	89862533	89862533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctcagtcctgtccactggGaggttcaactccctcaccag	7	9	8	17	0	3	0	3	0	0	0	6	1	6	1	5	2	1	1	5	2	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:89862533G>A	ENST00000268124.5	-	19	3363	c.3030C>T	c.(3028-3030)ctC>ctT	p.L1010L	POLG_ENST00000442287.2_Silent_p.L1010L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1010					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGTCCACTGGGAGGTTCAACT	0.557								DNA polymerases (catalytic subunits)					4	73					0	0	0	0	A	89862533	G	A	89862533	2	1	201	1	0	0	0	0	0	0	0	1	12272	1161	41	2		2	POLG	15	89862533	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	25357	89862533	12668859	310	36146											
FES	2242	broad.mit.edu	37	chr15	91436009	91436009	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcggtgaagtcttgtcgaGagacgctcccacctgacctc	7	9	12	13	3	1	3	0	2	1	1	4	5	2	3	3	2	0	1	3	2	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:91436009G>C	ENST00000328850.3	+	14	1922	c.1780G>C	c.(1780-1782)Gag>Cag	p.E594Q	FES_ENST00000444422.2_Missense_Mutation_p.E524Q|FES_ENST00000394300.3_Missense_Mutation_p.E536Q|FES_ENST00000450438.2_Missense_Mutation_p.E466Q|FES_ENST00000414248.2_Missense_Mutation_p.E466Q|FES_ENST00000394302.1_Missense_Mutation_p.E466Q	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	594	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTCTTGTCGAGAGACGCTCCC	0.572													8	125					0	0	0	0	C	91436009	G	C	91436009	3	2	201	1	0	0	0	0	1	0	0	0	5865	943	33	2	1830	2	FES	15	91436009	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	1573476	91436009	11095383	311	36147											
MCTP2	55784	broad.mit.edu	37	chr15	94928705	94928705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagtgtttgatgaagatgGagataaacccccagattttc	13	11	10	7	0	0	5	0	2	0	3	1	7	0	5	2	1	1	1	2	1	3	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:94928705G>T	ENST00000357742.4	+	13	1739	c.1739G>T	c.(1738-1740)gGa>gTa	p.G580V	MCTP2_ENST00000451018.3_Missense_Mutation_p.G580V|MCTP2_ENST00000331706.4_Missense_Mutation_p.G168V|MCTP2_ENST00000557742.1_Missense_Mutation_p.G168V	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	580	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GATGAAGATGGAGATAAACCC	0.338													74	263					7.09011e-46	1.12987e-45	1	0	T	94928705	G	T	94928705	3	4	201	1	0	0	0	0	1	0	0	0	9470	1174	41	2	1789	2	MCTP2	15	94928705	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	3492696	94928705	7602687	312	36148											
HBM	3042	broad.mit.edu	37	chr16	216015	216015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgctcagcgcccaggagCgcgcccaaatcgcgcaggtc	8	4	12	17	5	1	0	1	0	0	0	3	1	1	1	3	2	3	2	3	2	1	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:216015C>A	ENST00000356815.3	+	1	39	c.19C>A	c.(19-21)Cgc>Agc	p.R7S	HBM_ENST00000472539.1_Intron	NM_001003938.3	NP_001003938.1	Q6B0K9	HBM_HUMAN	hemoglobin, mu	7						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CGCCCAGGAGCGCGCCCAAAT	0.721													9	21					0.000442599	0.000546147	1	0	A	216015	C	A	216015	3	1	201	1	0	0	0	0	1	0	0	0	7034	768	27	3	21	3	HBM	16	216015	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08		216015	90138738	313	36149											
ACSM5	54988	broad.mit.edu	37	chr16	20439173	20439173	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatctttcggctgcttgtgCaggaggatctgaccaggtac	7	11	12	11	1	2	1	0	1	2	0	3	3	2	3	2	4	3	4	2	4	1	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:20439173C>T	ENST00000331849.4	+	7	1132	c.985C>T	c.(985-987)Cag>Tag	p.Q329*		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	329					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTGCTTGTGCAGGAGGATCT	0.463													6	231					0	0	0	0	T	20439173	C	T	20439173	4	4	201	1	0	0	0	0	0	1	0	0	187	711	25	4	1007	4	ACSM5	16	20439173	Nonsense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	20223158	20439173	69915580	314	36150											
ACSM2A	123876	broad.mit.edu	37	chr16	20476886	20476886	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtgggtgaatgggaaGgggaaggaattaatgtggaa	12	9	19	1	0	0	1	0	1	0	0	0	5	0	5	0	7	0	0	0	7	6	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:20476886G>A	ENST00000573854.1	+	3	339	c.225G>A	c.(223-225)aaG>aaA	p.K75K	ACSM2A_ENST00000575690.1_Silent_p.K75K|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Silent_p.K75K|ACSM2A_ENST00000424070.1_Silent_p.K75K|ACSM2A_ENST00000396104.2_Silent_p.K75K|ACSM2A_ENST00000417235.2_5'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	75					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGAATGGGAAGGGGAAGGAAT	0.572													6	72					0	0	0	0	A	20476886	G	A	20476886	2	1	201	1	0	0	0	0	0	0	0	1	183	991	35	4		4	ACSM2A	16	20476886	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	37713	20476886	69877867	315	36151											
ACSM2B	348158	broad.mit.edu	37	chr16	20570722	20570722	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacattaattccttcccCttcccattcacccaccacag	9	12	1	19	0	1	0	1	0	0	0	5	0	5	0	7	0	0	0	7	0	1	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:20570722C>T	ENST00000329697.6	-	3	393	c.225G>A	c.(223-225)aaG>aaA	p.K75K	ACSM2B_ENST00000565232.1_Silent_p.K75K|ACSM2B_ENST00000567001.1_Silent_p.K75K|ACSM2B_ENST00000414188.2_Silent_p.K75K|ACSM2B_ENST00000565322.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	75					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATTCCTTCCCCTTCCCATTCA	0.557													18	31					0	0	0	0	T	20570722	C	T	20570722	2	4	201	1	0	0	0	0	0	0	0	1	184	680	24	4		4	ACSM2B	16	20570722	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	93836	20570722	69784031	316	36152											
ZP2	7783	broad.mit.edu	37	chr16	21215680	21215680	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccttctgtccaggagataTaaatgtaagcttcagagaca	14	10	8	9	0	2	2	1	0	1	2	3	4	3	2	2	1	1	2	2	1	4	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:21215680T>C	ENST00000574002.1	-	9	1221	c.739A>G	c.(739-741)Ata>Gta	p.I247V	ZP2_ENST00000219593.4_Missense_Mutation_p.I247V|ZP2_ENST00000574091.1_Missense_Mutation_p.I247V|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	247					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCAGGAGATATAAATGTAAGC	0.428													32	40					0	0	0	0	C	21215680	T	C	21215680	3	2	201	1	0	0	0	0	1	0	0	0	18309	1406	49	5	1546	5	ZP2	16	21215680	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	644958	21215680	69139073	317	36153											
ARHGAP17	55114	broad.mit.edu	37	chr16	24958893	24958893	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcgctggtctgagcaagcTttgcaaggaacttgatcaaa	12	10	10	9	1	2	2	1	2	1	0	3	3	2	3	0	2	4	4	0	2	4	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:24958893T>C	ENST00000289968.6	-	14	1220	c.1151A>G	c.(1150-1152)aAg>aGg	p.K384R	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.K384R|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	384	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTGAGCAAGCTTTGCAAGGAA	0.463													3	71					0	0	0	0	C	24958893	T	C	24958893	3	2	201	1	0	0	0	0	1	0	0	0	869	1609	56	5	1522	5	ARHGAP17	16	24958893	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	3743213	24958893	65395860	318	36154											
SEPHS2	22928	broad.mit.edu	37	chr16	30456514	30456514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactcatactctggctgaCgctgagtaacatcaacatgt	11	11	7	12	1	4	2	3	2	1	0	4	2	4	2	0	1	3	3	0	1	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:30456514C>A	ENST00000478753.2	-	1	988	c.535G>T	c.(535-537)Gtc>Ttc	p.V179F	SEPHS2_ENST00000500504.2_Missense_Mutation_p.V179F|SEPHS2_ENST00000542752.1_Missense_Mutation_p.V122F			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	179					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CTCTGGCTGACGCTGAGTAAC	0.547													62	75					2.73361e-28	4.08329e-28	1	0	A	30456514	C	A	30456514	3	1	201	1	0	0	0	0	1	0	0	0	14142	536	19	3	815	3	SEPHS2	16	30456514	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	5497621	30456514	59898239	319	36155											
RNF40	9810	broad.mit.edu	37	chr16	30779633	30779633	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggtcccctctgaagaGgacttccagggtataacccc	9	8	11	13	0	1	2	0	1	1	1	3	4	3	3	5	3	2	2	5	3	3	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:30779633G>A	ENST00000324685.6	+	13	2196	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	RNF40_ENST00000402121.3_Silent_p.E279E|RNF40_ENST00000563683.1_Silent_p.E547E|RNF40_ENST00000357890.5_Silent_p.E487E	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	587					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CCTCTGAAGAGGACTTCCAGG	0.622													15	28					0	0	0	0	A	30779633	G	A	30779633	2	1	201	1	0	0	0	0	0	0	0	1	13578	991	35	4		4	RNF40	16	30779633	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	323119	30779633	59575120	320	36156											
COQ9	57017	broad.mit.edu	37	chr16	57486804	57486804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggcagcccttgagtttgtgCccgcccacgggtggacagca	6	7	14	14	3	0	1	0	1	0	0	0	2	0	2	3	3	3	3	3	3	0	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:57486804C>T	ENST00000262507.6	+	3	403	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	COQ9_ENST00000567933.1_Missense_Mutation_p.P112S|COQ9_ENST00000567072.1_Missense_Mutation_p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	112					ubiquinone biosynthetic process	mitochondrion		p.P112S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGAGTTTGTGCCCGCCCACGG	0.592													6	199					0	0	0	0	T	57486804	C	T	57486804	3	4	201	1	0	0	0	0	1	0	0	0	3781	739	26	4	344	4	COQ9	16	57486804	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	26707171	57486804	32867949	321	36157											
CA7	766	broad.mit.edu	37	chr16	66881111	66881111	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccaggtagacttcaaTgacagcgatgaccgaaccgg	11	8	11	11	3	2	3	1	2	1	1	3	5	3	3	3	2	2	1	3	2	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:66881111T>C	ENST00000394069.3	+	2	482	c.51T>C	c.(49-51)aaT>aaC	p.N17N	CA7_ENST00000338437.2_Silent_p.N73N|RP11-61A14.1_ENST00000551187.1_RNA	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	73					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TAGACTTCAATGACAGCGATG	0.582													23	46					0	0	0	0	C	66881111	T	C	66881111	2	2	201	1	0	0	0	0	0	0	0	1	2547	1461	51	5		5	CA7	16	66881111	Silent	SNP	T	TCGA-CR-7374-01A-11D-2012-08	9394307	66881111	23473642	322	36158											
PARD6A	50855	broad.mit.edu	37	chr16	67694944	67694944	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgcccggccccgccatGgcccggccgcagaggactcc	4	2	14	21	5	0	1	0	0	0	1	1	2	1	2	8	5	0	1	8	5	0	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:67694944G>C	ENST00000458121.2	+	1	94	c.3G>C	c.(1-3)atG>atC	p.M1I	PARD6A_ENST00000602551.1_Start_Codon_SNP_p.M1I|PARD6A_ENST00000219255.3_Start_Codon_SNP_p.M1I	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	1	Interaction with PRKCI and PRKCZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		gccccgccATGGCCCGGCCGC	0.781													23	47					0	0	0	0	C	67694944	G	C	67694944	1	2	201	1	0	0	0	0	0	0	0	0	11516	1348	47	4		4	PARD6A	16	67694944	Translation_Start_Site	SNP	G	TCGA-CR-7374-01A-11D-2012-08	813833	67694944	22659809	323	36159											
EDC4	23644	broad.mit.edu	37	chr16	67913615	67913615	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcctcagtctgagcagtGagaccaagcccaagttgatg	11	9	10	11	0	2	3	1	3	1	1	3	4	3	3	3	0	2	2	3	0	2	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:67913615G>T	ENST00000358933.5	+	15	1998	c.1759G>T	c.(1759-1761)Gag>Tag	p.E587*	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	587					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCTGAGCAGTGAGACCAAGCC	0.632													7	231					0.000274275	0.000339145	1	0	T	67913615	G	T	67913615	4	4	201	1	0	0	0	0	0	1	0	0	4944	1291	45	2	1817	2	EDC4	16	67913615	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	218671	67913615	22441138	324	36160											
SLC7A6OS	84138	broad.mit.edu	37	chr16	68337973	68337973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcacggagaggatgttctCaatccagcctggagtggccg	8	8	14	11	2	1	1	1	0	1	1	3	4	2	3	3	4	2	2	3	4	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:68337973C>G	ENST00000263997.6	-	3	652	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	212					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		AGGATGTTCTCAATCCAGCCT	0.527													10	145					0	0	0	0	G	68337973	C	G	68337973	3	3	201	1	0	0	0	0	1	0	0	0	14790	835	29	2	307	2	SLC7A6OS	16	68337973	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	424358	68337973	22016780	325	36161											
CDH3	1001	broad.mit.edu	37	chr16	68729192	68729192	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcttttgttggtgagaaaGaagcggaagatcaaggagcc	12	9	14	6	1	1	3	1	1	0	3	1	6	1	5	1	3	3	2	1	3	4	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:68729192G>A	ENST00000264012.4	+	14	2581	c.2037G>A	c.(2035-2037)aaG>aaA	p.K679K	CDH3_ENST00000581171.1_Silent_p.K624K|CDH3_ENST00000429102.2_Silent_p.K679K	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	679					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGGTGAGAAAGAAGCGGAAGA	0.587													11	73					0	0	0	0	A	68729192	G	A	68729192	2	1	201	1	0	0	0	0	0	0	0	1	3140	933	33	2		2	CDH3	16	68729192	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	391219	68729192	21625561	326	36162											
ATP2C2	9914	broad.mit.edu	37	chr16	84485542	84485542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagtgctggccctggcttCtgggcccgagctggggcggc	2	8	17	14	2	2	0	1	0	1	0	2	1	2	0	2	6	2	3	2	6	0	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:84485542C>G	ENST00000416219.2	+	18	1765	c.1676C>G	c.(1675-1677)tCt>tGt	p.S559C	ATP2C2_ENST00000262429.4_Missense_Mutation_p.S559C|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	559					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCCTGGCTTCTGGGCCCGAG	0.582													25	308					0	0	0	0	G	84485542	C	G	84485542	3	3	201	1	0	0	0	0	1	0	0	0	1148	913	32	2	1746	2	ATP2C2	16	84485542	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	15756350	84485542	5869211	327	36163											
ANKRD11	29123	broad.mit.edu	37	chr16	89371734	89371734	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttttggggtcttggttaGagaaactttatctttatcct	8	18	9	6	0	2	1	0	0	2	1	3	2	3	1	1	3	1	2	1	3	4	8			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:89371734G>C	ENST00000301030.4	-	4	566	c.106C>G	c.(106-108)Cta>Gta	p.L36V	ANKRD11_ENST00000563291.1_Missense_Mutation_p.L36V|ANKRD11_ENST00000378330.2_Missense_Mutation_p.L36V|ANKRD11_ENST00000567736.1_5'UTR	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	36						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)		GTCTTGGTTAGAGAAACTTTA	0.507													7	115					0	0	0	0	C	89371734	G	C	89371734	3	2	201	1	0	0	0	0	1	0	0	0	639	933	33	2	7925	2	ANKRD11	16	89371734	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	4886192	89371734	983019	328	36164											
SMYD4	114826	broad.mit.edu	37	chr17	1703541	1703541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgacctgattgttgctttCaggtaaacagatgtccttgt	8	16	9	8	0	1	3	1	2	0	1	2	3	2	3	2	1	2	3	2	1	2	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:1703541C>T	ENST00000305513.7	-	5	1314	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	383							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TTGTTGCTTTCAGGTAAACAG	0.418													17	196					0	0	0	0	T	1703541	C	T	1703541	3	4	201	1	0	0	0	0	1	0	0	0	14912	835	29	2	1295	2	SMYD4	17	1703541	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08		1703541	79491669	329	36165											
RPA1	6117	broad.mit.edu	37	chr17	1747221	1747221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgtcctagaacatccGtcccattactacggggaata	10	13	7	11	2	1	1	0	0	1	1	4	2	4	2	3	2	3	0	3	2	6	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:1747221G>A	ENST00000254719.5	+	3	202	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	31					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TAGAACATCCGTCCCATTACT	0.488								Nucleotide excision repair (NER)					69	36					0	0	0	0	A	1747221	G	A	1747221	3	1	201	1	0	0	0	0	1	0	0	0	13621	1145	40	1	102	1	RPA1	17	1747221	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	43680	1747221	79447989	330	36166											
CAMTA2	23125	broad.mit.edu	37	chr17	4883457	4883457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccccctccatatgtctggCccctctgggggctgttgaga	4	10	12	15	0	2	1	0	1	2	1	3	2	3	1	6	3	0	2	6	3	1	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:4883457C>A	ENST00000361571.5	-	8	1568	c.1157G>T	c.(1156-1158)gGc>gTc	p.G386V	CAMTA2_ENST00000358183.4_Missense_Mutation_p.G387V|CAMTA2_ENST00000572543.1_Missense_Mutation_p.G392V|CAMTA2_ENST00000414043.3_Missense_Mutation_p.G410V|CAMTA2_ENST00000381311.5_Missense_Mutation_p.G389V|CAMTA2_ENST00000348066.3_Missense_Mutation_p.G387V	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	387					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATATGTCTGGCCCCTCTGGGG	0.617													28	79					4.7796e-09	6.2062e-09	1	0	A	4883457	C	A	4883457	3	1	201	1	0	0	0	0	1	0	0	0	2639	739	26	4	2558	4	CAMTA2	17	4883457	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	3136236	4883457	76311753	331	36167											
TP53	7157	broad.mit.edu	37	chr17	7578469	7578469	+	Frame_Shift_Del	DEL	C	C	-																															ccatggcgcggacgcgggtgCcgggcgggggtgtggaatca																										TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:7578469delC	ENST00000420246.2	-	5	593	c.461delG	c.(460-462)gcfs	p.G154fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.G154fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.G154fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G154fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	154	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACGCGGGTGCCGGGCGGGGG	0.607		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			95	50	---	---	---	---					-	7578469	C	-	7578469	7	5	201	1	0	1	0	1	0	0	0	0	16476	739	26	0	837	0	TP53	17	7578469	Frame_Shift_Del	DEL	C	TCGA-CR-7374-01A-11D-2012-08	2695012	7578469	73616741	332	36168											
MYH4	4622	broad.mit.edu	37	chr17	10353772	10353772	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcactaaaagcacatacttGgcctcctccagctcctctgt	9	11	6	15	0	1	0	0	0	1	0	4	0	4	0	4	1	4	3	4	1	3	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:10353772G>T	ENST00000255381.2	-	30	4289	c.4179C>A	c.(4177-4179)gcC>gcA	p.A1393A	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1393					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCACATACTTGGCCTCCTCCA	0.517													83	171					2.93416e-43	4.66335e-43	1	0	T	10353772	G	T	10353772	2	4	201	1	0	0	0	0	0	0	0	1	10107	1335	47	4		4	MYH4	17	10353772	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	2775303	10353772	70841438	333	36169											
MYO15A	51168	broad.mit.edu	37	chr17	18070960	18070960	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccggccagccggcccagCgagcagctgctgcagcaggt	6	4	16	15	3	0	0	0	0	0	0	0	1	0	0	4	3	8	5	4	3	0	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:18070960C>T	ENST00000205890.5	+	62	10343	c.10005C>T	c.(10003-10005)agC>agT	p.S3335S	MYO15A_ENST00000418233.3_Silent_p.S599S|MYO15A_ENST00000451725.2_Intron	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3335	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCGGCCCAGCGAGCAGCTGC	0.662													23	45					0	0	0	0	T	18070960	C	T	18070960	2	4	201	1	0	0	0	0	0	0	0	1	10133	767	27	1		1	MYO15A	17	18070960	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	7717188	18070960	63124250	334	36170											
NF1	4763	broad.mit.edu	37	chr17	29490331	29490331	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaacttcggaattctgcctCtggggttttattttctctca	6	18	8	9	1	4	1	1	1	3	0	6	2	4	2	1	3	2	1	1	3	3	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:29490331C>G	ENST00000358273.4	+	4	799	c.416C>G	c.(415-417)tCt>tGt	p.S139C	NF1_ENST00000356175.3_Missense_Mutation_p.S139C|NF1_ENST00000431387.4_Missense_Mutation_p.S139C	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	139					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATTCTGCCTCTGGGGTTTTA	0.443			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	96					0	0	0	0	G	29490331	C	G	29490331	3	3	201	1	0	0	0	0	1	0	0	0	10426	913	32	2	430	2	NF1	17	29490331	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	11419371	29490331	51704879	335	36171											
NF1	4763	broad.mit.edu	37	chr17	29528502	29528502	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actccatcgaatcatcaccaAtgtaagtccaaaaggtattg	15	10	6	10	1	2	0	2	0	0	0	5	1	4	0	3	1	0	2	3	1	6	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:29528502A>T	ENST00000358273.4	+	11	1642	c.1260_splice	c.e11+1	p.N420_splice	NF1_ENST00000356175.3_Splice_Site_p.N420_splice|NF1_ENST00000431387.4_Splice_Site_p.N420_splice	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	420					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCATCACCAATGTAAGTCCA	0.313			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			148	90					0	0	0	0	T	29528502	A	T	29528502	5	4	201	1	0	0	0	0	0	0	1	0	10426	115	4	5	1301	5	NF1	17	29528502	Splice_Site	SNP	A	TCGA-CR-7374-01A-11D-2012-08	38171	29528502	51666708	336	36172											
EVI2B	2124	broad.mit.edu	37	chr17	29631403	29631403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttggtttttcataaaatCtactggtggcaggggcaagt	9	15	11	6	0	3	0	1	0	2	0	3	0	3	0	0	5	1	3	0	5	4	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:29631403C>T	ENST00000330927.4	-	2	1379	c.1225G>A	c.(1225-1227)Gat>Aat	p.D409N	EVI2B_ENST00000544462.1_Missense_Mutation_p.D424N|EVI2B_ENST00000577894.1_Missense_Mutation_p.D409N|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	409						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTCATAAAATCTACTGGTGGC	0.423													40	91					0	0	0	0	T	29631403	C	T	29631403	3	4	201	1	0	0	0	0	1	0	0	0	5326	913	32	2	125	2	EVI2B	17	29631403	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	102901	29631403	51563807	337	36173											
MYO19	80179	broad.mit.edu	37	chr17	34863652	34863652	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccctcacctgctgggccCttaggtagtgagccacaaaa	10	8	9	14	0	1	1	1	1	0	0	2	1	2	1	4	2	2	2	4	2	4	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:34863652C>G	ENST00000431794.3	-	15	1865	c.1343G>C	c.(1342-1344)aGg>aCg	p.R448T	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	448	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTGCTGGGCCCTTAGGTAGTG	0.512													14	29					0	0	0	0	G	34863652	C	G	34863652	3	3	201	1	0	0	0	0	1	0	0	0	10137	681	24	4	1617	4	MYO19	17	34863652	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	5232249	34863652	46331558	338	36174											
KRT24	192666	broad.mit.edu	37	chr17	38858167	38858167	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaatgatcccagcattttCaacagtggcagcaatgatct	14	10	7	10	0	2	2	1	2	1	0	3	2	3	2	1	1	3	3	1	1	4	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:38858167C>G	ENST00000264651.2	-	2	690	c.634G>C	c.(634-636)Gaa>Caa	p.E212Q		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	212	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCAGCATTTTCAACAGTGGCA	0.393													3	48					0	0	0	0	G	38858167	C	G	38858167	3	3	201	1	0	0	0	0	1	0	0	0	8513	835	29	2	971	2	KRT24	17	38858167	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	3994515	38858167	42337043	339	36175											
KRT24	192666	broad.mit.edu	37	chr17	38859533	38859533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcatggtttgcttttcccctCcagagaaaagccccccatcg	8	10	8	15	1	0	1	0	0	0	1	3	2	2	1	6	1	2	3	6	1	2	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:38859533C>G	ENST00000264651.2	-	1	469	c.413G>C	c.(412-414)gGa>gCa	p.G138A		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	138	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTTTTCCCCTCCAGAGAAAAG	0.522													30	371					0	0	0	0	G	38859533	C	G	38859533	3	3	201	1	0	0	0	0	1	0	0	0	8513	855	30	2	1196	2	KRT24	17	38859533	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	1366	38859533	42335677	340	36176											
KRT25	147183	broad.mit.edu	37	chr17	38906696	38906696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttccaggtggagcttgatgtCcaggagctgctcatactcca	8	11	11	11	0	1	1	1	1	0	0	4	3	4	3	3	3	4	3	3	3	1	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:38906696C>G	ENST00000312150.4	-	6	1171	c.1111G>C	c.(1111-1113)Gac>Cac	p.D371H		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	371	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.D371N(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AGCTTGATGTCCAGGAGCTGC	0.527													91	337					0	0	0	0	G	38906696	C	G	38906696	3	3	201	1	0	0	0	0	1	0	0	0	8514	855	30	2	253	2	KRT25	17	38906696	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	47163	38906696	42288514	341	36177											
KRT25	147183	broad.mit.edu	37	chr17	38906822	38906822	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtagttgctctcggtctCtgtcaaggagcactccaggg	8	10	12	11	1	3	0	1	0	2	0	6	1	4	1	1	3	2	4	1	3	2	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:38906822C>A	ENST00000312150.4	-	6	1045	c.985G>T	c.(985-987)Gag>Tag	p.E329*		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	329	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTCTCGGTCTCTGTCAAGGAG	0.527													64	311					7.75977e-34	1.19504e-33	1	0	A	38906822	C	A	38906822	4	1	201	1	0	0	0	0	0	1	0	0	8514	922	32	2	379	2	KRT25	17	38906822	Nonsense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	126	38906822	42288388	342	36178											
ABCA10	10349	broad.mit.edu	37	chr17	67197788	67197788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttaaggaaaaataatggaGaatccccatggccatcttta	16	10	7	8	0	1	1	0	0	1	1	2	3	2	2	3	3	0	0	3	3	6	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:67197788G>A	ENST00000269081.4	-	11	1937	c.1028C>T	c.(1027-1029)tCt>tTt	p.S343F	ABCA10_ENST00000432313.2_Missense_Mutation_p.S343F|ABCA10_ENST00000416101.2_Missense_Mutation_p.S343F	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	343					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAATAATGGAGAATCCCCATG	0.318													13	56					0	0	0	0	A	67197788	G	A	67197788	3	1	201	1	0	0	0	0	1	0	0	0	29	942	33	2	3723	2	ABCA10	17	67197788	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	28290966	67197788	13997422	343	36179											
RNF213	57674	broad.mit.edu	37	chr17	78327389	78327389	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacatcaggggaggtggcaGaggtggcagaggaggccatg	10	4	20	7	0	1	2	1	0	0	2	1	4	1	4	1	8	0	3	1	8	0	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:78327389G>C	ENST00000582970.1	+	34	10644	c.10501G>C	c.(10501-10503)Gag>Cag	p.E3501Q	RNF213_ENST00000508628.2_Missense_Mutation_p.E3550Q|RNF213_ENST00000336301.6_Missense_Mutation_p.E1574Q|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.E1574Q(1)|p.E3550Q(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGAGGTGGCAGAGGTGGCAGA	0.567													5	78					0	0	0	0	C	78327389	G	C	78327389	3	2	201	1	0	0	0	0	1	0	0	0	13562	943	33	2	10950	2	RNF213	17	78327389	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	11129601	78327389	2867821	344	36180											
POTEC	388468	broad.mit.edu	37	chr18	14542977	14542977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcccatcttgctcctgaGcatcttcataaaggagtcgt	8	13	8	12	1	3	1	1	1	2	0	5	2	4	2	2	1	3	2	2	1	2	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:14542977G>A	ENST00000358970.5	-	1	168	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	57										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGCTCCTGAGCATCTTCATA	0.587													132	834					0	0	0	0	A	14542977	G	A	14542977	3	1	201	1	0	0	0	0	1	0	0	0	12334	971	34	4	1503	4	POTEC	18	14542977	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08		14542977	63534271	345	36181											
DSG3	1830	broad.mit.edu	37	chr18	29052738	29052738	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagccaatggagccgatttCatggaaagttctggtaagtg	12	10	12	7	1	2	0	1	0	1	0	2	3	2	2	2	3	2	2	2	3	3	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:29052738C>T	ENST00000257189.4	+	14	2171	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	696					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGCCGATTTCATGGAAAGTT	0.323													4	53					0	0	0	0	T	29052738	C	T	29052738	2	4	201	1	0	0	0	0	0	0	0	1	4814	825	29	2		2	DSG3	18	29052738	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	14509761	29052738	49024510	346	36182											
ASXL3	80816	broad.mit.edu	37	chr18	31325388	31325388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgttaaaggggtgccttGtgtcatcagttccggcatca	9	12	12	8	1	3	1	3	0	0	1	4	1	4	1	2	3	1	3	2	3	2	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:31325388G>T	ENST00000269197.5	+	12	5576	c.5576G>T	c.(5575-5577)tGt>tTt	p.C1859F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1859					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGGGTGCCTTGTGTCATCAGT	0.468													18	548					1.33834e-09	1.75307e-09	1	0	T	31325388	G	T	31325388	3	4	201	1	0	0	0	0	1	0	0	0	1072	1377	48	4	5622	4	ASXL3	18	31325388	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	2272650	31325388	46751860	347	36183											
ELP2	55250	broad.mit.edu	37	chr18	33750144	33750144	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagcgtctgcccagtgcTccacccttctcaacggtcag	6	10	9	16	2	4	0	3	0	2	0	6	0	5	0	3	1	4	1	3	1	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:33750144T>G	ENST00000358232.6	+	20	2258	c.2195T>G	c.(2194-2196)cTc>cGc	p.L732R	ELP2_ENST00000442325.2_Missense_Mutation_p.L797R|ELP2_ENST00000350494.6_Missense_Mutation_p.L727R|ELP2_ENST00000423854.2_Missense_Mutation_p.L662R|ELP2_ENST00000542824.1_Missense_Mutation_p.L662R|ELP2_ENST00000351393.6_Missense_Mutation_p.L706R	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	732					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TGCCCAGTGCTCCACCCTTCT	0.512													54	98					0	0	0	0	G	33750144	T	G	33750144	3	3	201	1	0	0	0	0	1	0	0	0	5118	1551	54	5	2273	5	ELP2	18	33750144	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	2424756	33750144	44327104	348	36184											
RIT2	6014	broad.mit.edu	37	chr18	40613778	40613778	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaagcttccacttacctAtagtagggtcatgataatca	14	11	8	8	0	2	1	2	1	0	0	3	2	3	2	2	2	2	2	2	2	7	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:40613778A>G	ENST00000589109.1	-	2	329	c.158T>C	c.(157-159)aTa>aCa	p.I53T	RIT2_ENST00000590910.1_Missense_Mutation_p.I53T|RIT2_ENST00000282028.4_Missense_Mutation_p.I53T|RIT2_ENST00000326695.5_Missense_Mutation_p.I53T	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	53					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCACTTACCTATAGTAGGGTC	0.308													21	17					0	0	0	0	G	40613778	A	G	40613778	3	3	201	1	0	0	0	0	1	0	0	0	13472	449	16	5	511	5	RIT2	18	40613778	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	6863634	40613778	37463470	349	36185											
SLC14A1	6563	broad.mit.edu	37	chr18	43310367	43310367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttcgccatgtcaagggAgaaggtgcttccccaaagct	10	9	12	10	1	1	1	1	0	0	1	3	2	2	1	3	3	2	3	3	3	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:43310367A>G	ENST00000321925.4	+	3	314	c.82A>G	c.(82-84)Aga>Gga	p.R28G	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.R84G|SLC14A1_ENST00000436407.3_Missense_Mutation_p.R84G|SLC14A1_ENST00000589700.1_Missense_Mutation_p.R28G|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000586142.1_Missense_Mutation_p.R28G|SLC14A1_ENST00000402943.2_Intron	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	28						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						ATGTCAAGGGAGAAGGTGCTT	0.498													6	121					0	0	0	0	G	43310367	A	G	43310367	3	3	201	1	0	0	0	0	1	0	0	0	14484	296	11	5	256	5	SLC14A1	18	43310367	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	2696589	43310367	34766881	350	36186											
AP3D1	8943	broad.mit.edu	37	chr19	2109958	2109958	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggtcgcaccctcgtcattCtgcggtggagtgaaggtggt	5	11	16	9	3	2	1	1	1	1	0	4	2	2	2	1	5	1	1	1	5	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:2109958C>G	ENST00000355272.6	-	29	3471		c.e29-1		AP3D1_ENST00000356926.4_Splice_Site|AP3D1_ENST00000350812.6_Splice_Site|AP3D1_ENST00000345016.5_Splice_Site	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit						eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CCTCGTCATTCTGCGGTGGAG	0.642													19	56					0	0	0	0	G	2109958	C	G	2109958	5	3	201	1	0	0	0	0	0	0	1	0	747	927	32	2	399	2	AP3D1	19	2109958	Splice_Site	SNP	C	TCGA-CR-7374-01A-11D-2012-08		2109958	57019025	351	36187											
EMR1	2015	broad.mit.edu	37	chr19	6924814	6924814	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaacacctacctccacctGcacctctgcgtgtgtctcct	7	10	5	19	1	2	0	0	0	2	0	4	0	3	0	6	0	4	1	6	0	2	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:6924814G>T	ENST00000312053.4	+	15	1954	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L	EMR1_ENST00000450315.3_Silent_p.L462L|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381407.5_Silent_p.L498L|EMR1_ENST00000381404.4_Silent_p.L587L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	639					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACCTCCACCTGCACCTCTGCG	0.552													35	111					5.43694e-19	7.60661e-19	1	0	T	6924814	G	T	6924814	2	4	201	1	0	0	0	0	0	0	0	1	5142	1306	46	4		4	EMR1	19	6924814	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	4814856	6924814	52204169	352	36188											
PCP2	126006	broad.mit.edu	37	chr19	7697683	7697683	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctgcacgtggctcagcaGattgaagaagccctcctggt	8	8	12	13	1	1	3	1	1	0	2	2	3	2	3	3	2	3	3	3	2	2	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:7697683G>A	ENST00000311069.5	-	2	375	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	CTD-3214H19.4_ENST00000595866.1_Intron|PCP2_ENST00000598935.1_Silent_p.L13L	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	29	GoLoco 1.				signal transduction		GTPase activator activity			endometrium(1)|urinary_tract(1)	2						TGGCTCAGCAGATTGAAGAAG	0.672													5	4					0	0	0	0	A	7697683	G	A	7697683	2	1	201	1	0	0	0	0	0	0	0	1	11668	933	33	2		2	PCP2	19	7697683	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	772869	7697683	51431300	353	36189											
LRRC8E	80131	broad.mit.edu	37	chr19	7965435	7965435	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagctcggcctgtgctcAggcctccgtctgctggatgt	3	11	12	15	2	2	0	1	0	1	0	5	1	4	1	4	3	3	3	4	3	0	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:7965435A>T	ENST00000306708.6	+	3	2129	c.2028A>T	c.(2026-2028)tcA>tcT	p.S676S	AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	676						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GCCTGTGCTCAGGCCTCCGTC	0.632													36	63					0	0	0	0	T	7965435	A	T	7965435	2	4	201	1	0	0	0	0	0	0	0	1	9089	175	7	5		5	LRRC8E	19	7965435	Silent	SNP	A	TCGA-CR-7374-01A-11D-2012-08	267752	7965435	51163548	354	36190											
MUC16	94025	broad.mit.edu	37	chr19	9003657	9003657	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggttagtgatggtaaaaTtgagggtgaatggcagcagg	12	9	17	3	0	0	3	0	3	0	0	0	3	0	3	0	5	1	5	0	5	4	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:9003657T>G	ENST00000397910.4	-	49	40186	c.39983A>C	c.(39982-39984)aAt>aCt	p.N13328T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13330	SEA 9.				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						GATGGTAAAATTGAGGGTGAA	0.483													33	379					0	0	0	0	G	9003657	T	G	9003657	3	3	201	1	0	0	0	0	1	0	0	0	10043	1493	52	5	3684	5	MUC16	19	9003657	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	1038222	9003657	50125326	355	36191											
MUC16	94025	broad.mit.edu	37	chr19	9069584	9069584	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagggaagtcacagggagAgcagaagtggggctacttcc	13	5	16	7	0	1	3	1	0	0	3	2	5	2	4	1	4	2	2	1	4	4	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:9069584A>T	ENST00000397910.4	-	3	18065	c.17862T>A	c.(17860-17862)gcT>gcA	p.A5954A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5956	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						TCACAGGGAGAGCAGAAGTGG	0.488													54	107					0	0	0	0	T	9069584	A	T	9069584	2	4	201	1	0	0	0	0	0	0	0	1	10043	291	11	5		5	MUC16	19	9069584	Silent	SNP	A	TCGA-CR-7374-01A-11D-2012-08	65927	9069584	50059399	356	36192											
RFX1	5989	broad.mit.edu	37	chr19	14090331	14090331	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgggtttgggcgcttgTggagtggcctggaccacaga	5	8	19	9	2	0	1	0	0	0	1	0	3	0	3	3	6	0	2	3	6	0	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:14090331T>A	ENST00000254325.4	-	7	996	c.762A>T	c.(760-762)ccA>ccT	p.P254P		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	254					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TGGGCGCTTGTGGAGTGGCCT	0.642													38	120					0	0	0	0	A	14090331	T	A	14090331	2	1	201	1	0	0	0	0	0	0	0	1	13344	1683	59	5		5	RFX1	19	14090331	Silent	SNP	T	TCGA-CR-7374-01A-11D-2012-08	5020747	14090331	45038652	357	36193											
ZNF14	7561	broad.mit.edu	37	chr19	19822966	19822966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catgcaatcgaagagaaatgGaccaactgaatgatttgcca	16	8	9	8	1	0	3	0	2	0	1	1	6	0	4	2	1	3	1	2	1	5	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:19822966G>A	ENST00000344099.3	-	4	1262	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AAGAGAAATGGACCAACTGAA	0.373													17	116					0	0	0	0	A	19822966	G	A	19822966	3	1	201	1	0	0	0	0	1	0	0	0	17823	1174	41	2	808	2	ZNF14	19	19822966	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	5732635	19822966	39306017	358	36194											
MAG	4099	broad.mit.edu	37	chr19	35800952	35800952	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggagcgcagcggcctcgtGctcaccagcatcctcacgct	6	7	11	17	5	2	0	2	0	0	0	5	1	3	1	3	2	4	4	3	2	0	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:35800952G>T	ENST00000361922.4	+	8	1557	c.1407G>T	c.(1405-1407)gtG>gtT	p.V469V	MAG_ENST00000392213.3_Silent_p.V469V|MAG_ENST00000537831.2_Silent_p.V444V|MAG_ENST00000593348.1_3'UTR	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	469	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCGGCCTCGTGCTCACCAGCA	0.687													44	46					6.68952e-21	9.63032e-21	1	0	T	35800952	G	T	35800952	2	4	201	1	0	0	0	0	0	0	0	1	9227	1306	46	4		4	MAG	19	35800952	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	15977986	35800952	23328031	359	36195											
APLP1	333	broad.mit.edu	37	chr19	36362534	36362534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgcagctcccagggcctCatcctgcacggctcgggcat	5	7	12	17	2	1	0	1	0	0	0	4	0	3	0	4	3	3	5	4	3	0	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:36362534C>T	ENST00000221891.4	+	5	750	c.558C>T	c.(556-558)ctC>ctT	p.L186L	APLP1_ENST00000586861.1_Silent_p.L180L|APLP1_ENST00000537454.2_Silent_p.L147L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	186					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCAGGGCCTCATCCTGCACG	0.652													24	92					0	0	0	0	T	36362534	C	T	36362534	2	4	201	1	0	0	0	0	0	0	0	1	780	813	29	2		2	APLP1	19	36362534	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	561582	36362534	22766449	360	36196											
POU2F2	5452	broad.mit.edu	37	chr19	42597981	42597981	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttctgccctccctgacCtgttgtgctcagactgctgg	4	14	9	14	0	2	2	1	1	1	1	3	2	3	2	3	1	3	3	3	1	0	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:42597981C>G	ENST00000389341.5	-	12	1216	c.1150_splice	c.e12+1	p.V384_splice	POU2F2_ENST00000526816.2_Splice_Site_p.V400_splice|POU2F2_ENST00000560398.1_Splice_Site_p.V406_splice|POU2F2_ENST00000533720.1_Splice_Site_p.V384_splice|POU2F2_ENST00000529952.1_Splice_Site_p.V400_splice|POU2F2_ENST00000342301.4_Splice_Site_p.V400_splice|POU2F2_ENST00000529067.1_Splice_Site_p.A384_splice|POU2F2_ENST00000560558.1_Splice_Site_p.V345_splice	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	400					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CCTCCCTGACCTGTTGTGCTC	0.607													15	250					0	0	0	0	G	42597981	C	G	42597981	5	3	201	1	0	0	0	0	0	0	1	0	12343	695	24	4	253	4	POU2F2	19	42597981	Splice_Site	SNP	C	TCGA-CR-7374-01A-11D-2012-08	6235447	42597981	16531002	361	36197											
CIC	23152	broad.mit.edu	37	chr19	42795409	42795409	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggtacagtacatcctgcCcacgctgccccagcagcttc	8	7	8	18	1	0	0	0	0	0	0	2	0	1	0	5	1	6	5	5	1	2	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:42795409C>A	ENST00000572681.2	+	11	5284	c.5216C>A	c.(5215-5217)cCc>cAc	p.P1739H	CIC_ENST00000575354.2_Missense_Mutation_p.P830H|CIC_ENST00000160740.3_Missense_Mutation_p.P830H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TACATCCTGCCCACGCTGCCC	0.687			"Mis, F, S"		oligodendroglioma								14	18					0.00244969	0.00299798	1	0	A	42795409	C	A	42795409	3	1	201	1	0	0	0	0	1	0	0	0	3453	623	22	4	2527	4	CIC	19	42795409	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	197428	42795409	16333574	362	36198											
TMEM145	284339	broad.mit.edu	37	chr19	42827922	42827922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacggagctcttctccaTccccccgcccgccacctccg	4	8	6	23	4	3	0	1	0	2	0	6	1	5	1	8	1	1	1	8	1	0	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:42827922T>C	ENST00000301204.3	+	14	1423	c.1382T>C	c.(1381-1383)aTc>aCc	p.I461T		NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	461						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CTCTTCTCCATCCCCCCGCCC	0.706													4	104					0	0	0	0	C	42827922	T	C	42827922	3	2	201	1	0	0	0	0	1	0	0	0	16153	1435	50	5	1436	5	TMEM145	19	42827922	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	32513	42827922	16301061	363	36199											
ZNF404	342908	broad.mit.edu	37	chr19	44376785	44376785	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgactaaaggccttaccacaTtctttgcatttctgtggttt	8	17	7	9	0	2	1	0	1	2	0	2	1	2	1	2	2	2	2	2	2	3	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:44376785T>C	ENST00000587539.1	-	3	1580	c.1581A>G	c.(1579-1581)gaA>gaG	p.E527E	ZNF404_ENST00000324394.6_Silent_p.E525E	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CCTTACCACATTCTTTGCATT	0.388													19	15					0	0	0	0	C	44376785	T	C	44376785	2	2	201	1	0	0	0	0	0	0	0	1	17981	1490	52	5		5	ZNF404	19	44376785	Silent	SNP	T	TCGA-CR-7374-01A-11D-2012-08	1548863	44376785	14752198	364	36200											
KLK13	26085	broad.mit.edu	37	chr19	51563831	51563831	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacctgggagaaacccaCtggtcccattggtgttgaga	10	8	12	11	0	0	2	0	1	0	2	1	4	1	2	4	3	2	1	4	3	1	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:51563831C>A	ENST00000595793.1	-	2	140	c.98G>T	c.(97-99)aGt>aTt	p.S33I	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.S33I|KLK13_ENST00000595547.1_Missense_Mutation_p.S33I	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	33					proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GAGAAACCCACTGGTCCCATT	0.582													69	85					1.33801e-20	1.91236e-20	1	0	A	51563831	C	A	51563831	3	1	201	1	0	0	0	0	1	0	0	0	8453	565	20	4	751	4	KLK13	19	51563831	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	7187046	51563831	7565152	365	36201											
ZNF615	284370	broad.mit.edu	37	chr19	52497539	52497539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggaaggttttgtcacattCagtgcattcataatgtttca	11	15	9	6	0	4	0	4	0	0	0	4	2	4	1	0	2	1	3	0	2	2	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:52497539C>T	ENST00000602063.1	-	6	1139	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	ZNF615_ENST00000598071.1_Missense_Mutation_p.E275K|ZNF615_ENST00000391795.3_Missense_Mutation_p.E269K|ZNF615_ENST00000376716.5_Missense_Mutation_p.E264K|ZNF615_ENST00000594083.1_Missense_Mutation_p.E275K			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTGTCACATTCAGTGCATTCA	0.403													16	154					0	0	0	0	T	52497539	C	T	52497539	3	4	201	1	0	0	0	0	1	0	0	0	18135	835	29	2	1409	2	ZNF615	19	52497539	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	933708	52497539	6631444	366	36202											
ZNF836	162962	broad.mit.edu	37	chr19	52659425	52659425	+	Missense_Mutation	SNP	C	C	A																															agccctgtttaaaggctttaCcacatttatcacatttgtaa																										TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:52659425C>A	ENST00000322146.8	-	5	2032	c.1511G>T	c.(1510-1512)gGt>gTt	p.G504V	ZNF836_ENST00000597252.1_Missense_Mutation_p.G504V|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AAAGGCTTTACCACATTTATC	0.403													67	64					6.75472e-32	1.02699e-31	1	0	A	52659425	C	A	52659425	3	1	201	1	0	0	0	0	1	0	0	0	18280	507	18	4	1301	4	ZNF836	19	52659425	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	161886	52659425	6469558	367	36203	280	2									
ZNF836	162962	broad.mit.edu	37	chr19	52659426	52659426	+	Missense_Mutation	SNP	C	C	A																															gccctgtttaaaggctttacCacatttatcacatttgtaag																										TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:52659426C>A	ENST00000322146.8	-	5	2031	c.1510G>T	c.(1510-1512)Ggt>Tgt	p.G504C	ZNF836_ENST00000597252.1_Missense_Mutation_p.G504C|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AAGGCTTTACCACATTTATCA	0.408													69	64					1.02487e-32	1.57024e-32	1	0	A	52659426	C	A	52659426	3	1	201	1	0	0	0	0	1	0	0	0	18280	594	21	4	1302	4	ZNF836	19	52659426	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	1	52659426	6469557	368	36204	280	2									
NLRP12	91662	broad.mit.edu	37	chr19	54318203	54318203	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacttccagaaggcatgttGactggttcccaagtgaggac	11	9	12	9	0	0	4	0	2	0	2	2	5	2	5	2	3	0	3	2	3	2	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:54318203G>C	ENST00000324134.6	-	2	497	c.329C>G	c.(328-330)tCa>tGa	p.S110*	NLRP12_ENST00000391772.1_Nonsense_Mutation_p.S110*|NLRP12_ENST00000354278.3_Nonsense_Mutation_p.S110*|NLRP12_ENST00000351894.4_Nonsense_Mutation_p.S110*|NLRP12_ENST00000345770.5_Nonsense_Mutation_p.S110*|NLRP12_ENST00000535162.1_Nonsense_Mutation_p.S110*|NLRP12_ENST00000391773.1_Nonsense_Mutation_p.S110*|NLRP12_ENST00000391775.3_Nonsense_Mutation_p.S110*	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	110					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAGGCATGTTGACTGGTTCCC	0.517													15	127					0	0	0	0	C	54318203	G	C	54318203	4	2	201	1	0	0	0	0	0	1	0	0	10544	1294	45	2	2988	2	NLRP12	19	54318203	Nonsense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	1658777	54318203	4810780	369	36205											
LILRA1	11024	broad.mit.edu	37	chr19	55106848	55106848	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtctctacccagtgatctCctggagctcctggtcctagg	5	12	11	13	0	2	1	0	1	2	0	6	2	4	2	4	4	2	1	4	4	2	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:55106848C>A	ENST00000453777.1	+	5	812	c.642C>A	c.(640-642)ctC>ctA	p.L214L	LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Silent_p.L214L|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	214	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCAGTGATCTCCTGGAGCTCC	0.587													13	205					6.31663e-08	8.1136e-08	1	0	A	55106848	C	A	55106848	2	1	201	1	0	0	0	0	0	0	0	1	8838	842	30	2		2	LILRA1	19	55106848	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	788645	55106848	4022135	370	36206											
C20orf194	25943	broad.mit.edu	37	chr20	3324338	3324338	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctgttttcagttataTggctagagatcattccatga	10	16	7	8	0	2	2	2	1	0	1	3	3	3	2	2	1	1	3	2	1	4	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:3324338T>A	ENST00000252032.9	-	9	897	c.830A>T	c.(829-831)cAt>cTt	p.H277L		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	277										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TTCAGTTATATGGCTAGAGAT	0.388													292	252					0	0	0	0	A	3324338	T	A	3324338	3	1	201	1	0	0	0	0	1	0	0	0	2119	1464	51	5	2819	5	C20orf194	20	3324338	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08		3324338	59701182	371	36207											
SLC23A2	9962	broad.mit.edu	37	chr20	4865411	4865411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttttacctctcggatccgGggataccagatgtgttctgt	6	15	10	10	2	3	1	0	0	3	1	5	3	4	3	3	3	2	1	3	3	2	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:4865411G>A	ENST00000379333.1	-	8	1022	c.630C>T	c.(628-630)ccC>ccT	p.P210P	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000338244.1_Silent_p.P210P	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	210					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTCGGATCCGGGGATACCAGA	0.418													54	180					0	0	0	0	A	4865411	G	A	4865411	2	1	201	1	0	0	0	0	0	0	0	1	14551	1219	43	4		4	SLC23A2	20	4865411	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	1541073	4865411	58160109	372	36208											
INSM1	3642	broad.mit.edu	37	chr20	20350277	20350277	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgttcgccagcaagggcgctCaggagcgccacctgcgcctg	6	5	14	16	5	1	0	1	0	0	0	2	1	1	1	4	2	3	3	4	2	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:20350277C>T	ENST00000310227.1	+	1	1513	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	456					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CAAGGGCGCTCAGGAGCGCCA	0.716													14	37					0	0	0	0	T	20350277	C	T	20350277	4	4	201	1	0	0	0	0	0	1	0	0	7824	827	29	2	1368	2	INSM1	20	20350277	Nonsense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	15484866	20350277	42675243	373	36209											
SAMHD1	25939	broad.mit.edu	37	chr20	35559189	35559189	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacaaagtccagcaatcTgaacacagagaacatctcgt	16	7	7	11	1	2	3	0	2	2	1	4	4	3	3	1	0	3	1	1	0	4	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:35559189T>C	ENST00000262878.4	-	5	798	c.599A>G	c.(598-600)cAg>cGg	p.Q200R	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	200	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TCCAGCAATCTGAACACAGAG	0.413													64	141					0	0	0	0	C	35559189	T	C	35559189	3	2	201	1	0	0	0	0	1	0	0	0	13913	1580	55	5	1329	5	SAMHD1	20	35559189	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	15208912	35559189	27466331	374	36210											
RTEL1	51750	broad.mit.edu	37	chr20	62321524	62321524	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacaactttggccatgtcatCcgagacgtggcccagttctt	8	11	10	12	2	2	1	1	0	1	1	3	3	3	1	3	2	1	1	3	2	1	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:62321524C>T	ENST00000318100.4	+	25	3053	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	RTEL1_ENST00000360203.5_Silent_p.I742I|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.I742I|RTEL1_ENST00000508582.2_Silent_p.I766I|RTEL1_ENST00000370003.1_5'UTR|RTEL1_ENST00000370018.3_Silent_p.I742I			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	742					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCCATGTCATCCGAGACGTGG	0.617													9	99					0	0	0	0	T	62321524	C	T	62321524	2	4	201	1	0	0	0	0	0	0	0	1	13805	845	30	2		2	RTEL1	20	62321524	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	26762335	62321524	703996	375	36211											
ZNF512B	57473	broad.mit.edu	37	chr20	62591451	62591451	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcaccaatgagtcctggctCctgtgtttgggaggtgggtc	5	11	16	9	0	0	1	0	1	0	0	3	2	2	2	3	5	0	3	3	5	1	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:62591451C>G	ENST00000450537.1	-	17	2529	c.2469G>C	c.(2467-2469)agG>agC	p.R823S	ZNF512B_ENST00000369888.1_Missense_Mutation_p.R823S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R823S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	823					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGTCCTGGCTCCTGTGTTTGG	0.572													6	122					0	0	0	0	G	62591451	C	G	62591451	3	3	201	1	0	0	0	0	1	0	0	0	18052	854	30	2	213	2	ZNF512B	20	62591451	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	269927	62591451	434069	376	36212											
MRAP	56246	broad.mit.edu	37	chr21	33671361	33671361	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atctggacctcattcccgtgGacgagaagaagctgaaagcc	12	7	11	11	2	2	3	1	1	1	2	3	6	3	5	3	2	2	1	3	2	3	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr21:33671361G>C	ENST00000399784.2	+	3	266	c.79G>C	c.(79-81)Gac>Cac	p.D27H	MRAP_ENST00000339944.4_Missense_Mutation_p.D27H|MRAP_ENST00000399786.3_Missense_Mutation_p.D27H|MRAP_ENST00000497833.1_Intron|MRAP_ENST00000303645.5_Missense_Mutation_p.D27H	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	27					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						CATTCCCGTGGACGAGAAGAA	0.582													8	91					0	0	0	0	C	33671361	G	C	33671361	3	2	201	1	0	0	0	0	1	0	0	0	9823	1174	41	2	81	2	MRAP	21	33671361	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08		33671361	14458534	377	36213											
SYNJ1	8867	broad.mit.edu	37	chr21	34003713	34003713	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagagaagggaaaggactGatagtaacgggctcttcttt	12	10	13	6	1	2	2	0	1	2	1	2	5	2	4	0	3	2	3	0	3	4	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr21:34003713G>A	ENST00000382491.3	-	28	4297	c.4173C>T	c.(4171-4173)atC>atT	p.I1391I	SYNJ1_ENST00000322229.7_Silent_p.I1438I|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Silent_p.I1477I|SYNJ1_ENST00000382499.2_3'UTR	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1438	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGAAAGGACTGATAGTAACGG	0.468													19	67					0	0	0	0	A	34003713	G	A	34003713	2	1	201	1	0	0	0	0	0	0	0	1	15543	1280	45	2		2	SYNJ1	21	34003713	Silent	SNP	G	TCGA-CR-7374-01A-11D-2012-08	332352	34003713	14126182	378	36214											
DSCAM	1826	broad.mit.edu	37	chr21	42080487	42080487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaagcttgaaggagggaagGggaaaatttggagagtgccg	13	7	18	3	1	0	3	0	2	0	1	0	7	0	6	1	5	2	1	1	5	5	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr21:42080487G>A	ENST00000400454.1	-	2	731	c.254C>T	c.(253-255)cCc>cTc	p.P85L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	85	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGGAGGGAAGGGGAAAATTTG	0.498													5	110					0	0	0	0	A	42080487	G	A	42080487	3	1	201	1	0	0	0	0	1	0	0	0	4804	1232	43	4	5912	4	DSCAM	21	42080487	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	8076774	42080487	6049408	379	36215											
XBP1	7494	broad.mit.edu	37	chr22	29191483	29191483	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attagcttggctctctgtctCagagggtatctctaagacta	9	14	9	9	0	3	2	1	0	3	2	6	2	3	2	0	2	1	3	0	2	4	5			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:29191483C>G	ENST00000344347.5	-	6	810	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	XBP1_ENST00000405219.3_3'UTR|XBP1_ENST00000403532.3_3'UTR|XBP1_ENST00000216037.6_3'UTR			P17861	XBP1_HUMAN	X-box binding protein 1	0					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						CTCTCTGTCTCAGAGGGTATC	0.463													4	39					0	0	0	0	G	29191483	C	G	29191483	3	3	201	1	0	0	0	0	1	0	0	0	17518	835	29	2	323	2	XBP1	22	29191483	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08		29191483	22113083	380	36216											
THOC5	8563	broad.mit.edu	37	chr22	29940543	29940543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtataactcatagtctctgCcagggtcccgcagatccacc	9	10	8	14	1	2	1	1	0	1	1	5	1	4	1	4	1	2	2	4	1	3	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:29940543C>T	ENST00000490103.1	-	3	268	c.146G>A	c.(145-147)gGc>gAc	p.G49D	THOC5_ENST00000397872.1_Missense_Mutation_p.G49D|THOC5_ENST00000397873.2_Missense_Mutation_p.G49D|THOC5_ENST00000397871.1_Missense_Mutation_p.G49D	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	49	Interaction with CSF1R (By similarity).|Interaction with THOC7.				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATAGTCTCTGCCAGGGTCCCG	0.527													6	157					0	0	0	0	T	29940543	C	T	29940543	3	4	201	1	0	0	0	0	1	0	0	0	15962	739	26	4	1977	4	THOC5	22	29940543	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	749060	29940543	21364023	381	36217											
OSBP2	23762	broad.mit.edu	37	chr22	31091189	31091189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaggggctgggcagccatCggaactgctgcaggggtcgc	6	5	18	12	2	0	0	0	0	0	0	2	1	0	1	2	6	4	4	2	6	1	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:31091189C>T	ENST00000332585.6	+	1	397	c.293C>T	c.(292-294)tCg>tTg	p.S98L	OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000446658.2_Missense_Mutation_p.S98L|OSBP2_ENST00000382310.3_Missense_Mutation_p.S98L|OSBP2_ENST00000407373.1_Intron	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	98					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGGCAGCCATCGGAACTGCTG	0.667													9	76					0	0	0	0	T	31091189	C	T	31091189	3	4	201	1	0	0	0	0	1	0	0	0	11345	893	31	1	295	1	OSBP2	22	31091189	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	1150646	31091189	20213377	382	36218											
GRAMD4	23151	broad.mit.edu	37	chr22	47033814	47033814	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgatcgactgaatgagatCaaaggtcacctggaaattgc	13	11	10	7	1	2	3	2	3	0	1	3	6	2	4	1	2	1	0	1	2	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:47033814C>T	ENST00000406902.1	+	3	453	c.240C>T	c.(238-240)atC>atT	p.I80I	GRAMD4_ENST00000490378.1_3'UTR|GRAMD4_ENST00000361034.3_Silent_p.I80I			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	80					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TGAATGAGATCAAAGGTCACC	0.498													6	225					0	0	0	0	T	47033814	C	T	47033814	2	4	201	1	0	0	0	0	0	0	0	1	6802	816	29	2		2	GRAMD4	22	47033814	Silent	SNP	C	TCGA-CR-7374-01A-11D-2012-08	15942625	47033814	4270752	383	36219											
PLXNB2	23654	broad.mit.edu	37	chr22	50718166	50718166	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttccacctgatgtttgaTggccttgaagagcttgtaca	8	15	9	9	0	0	4	0	3	0	1	1	4	1	4	3	1	2	3	3	1	2	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:50718166T>A	ENST00000449103.1	-	27	4422	c.4282A>T	c.(4282-4284)Atc>Ttc	p.I1428F	PLXNB2_ENST00000359337.4_Missense_Mutation_p.I1428F			O15031	PLXB2_HUMAN	plexin B2	1428					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGATGTTTGATGGCCTTGAAG	0.622													116	223					0	0	0	0	A	50718166	T	A	50718166	3	1	201	1	0	0	0	0	1	0	0	0	12196	1464	51	5	1278	5	PLXNB2	22	50718166	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	3684352	50718166	586400	384	36220											
TLR7	51284	broad.mit.edu	37	chrX	12904444	12904444	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatttccttgtgcgccgTgtaaaaataattctccccta	9	13	5	14	2	1	0	0	0	1	0	3	0	2	0	6	0	1	1	6	0	5	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:12904444T>G	ENST00000380659.3	+	3	956	c.817T>G	c.(817-819)Tgt>Ggt	p.C273G		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	273					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TTGTGCGCCGTGTAAAAATAA	0.388													56	70					0	0	0	0	G	12904444	T	G	12904444	3	3	201	1	0	0	0	0	1	0	0	0	16050	1696	59	5	823	5	TLR7	23	12904444	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08		12904444	142366116	385	36221											
MBTPS2	51360	broad.mit.edu	37	chrX	21863309	21863309	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcaattttggaatggtgtTtggcgtaattgccatgttta	8	18	11	4	1	1	0	1	0	0	0	1	1	1	1	1	3	1	4	1	3	4	8			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:21863309T>G	ENST00000365779.2	+	3	326	c.245T>G	c.(244-246)tTt>tGt	p.F82C	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Missense_Mutation_p.F82C			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	82					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGAATGGTGTTTGGCGTAATT	0.378													59	60					0	0	0	0	G	21863309	T	G	21863309	3	3	201	1	0	0	0	0	1	0	0	0	9431	1841	64	5	255	5	MBTPS2	23	21863309	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	8958865	21863309	133407251	386	36222											
USP9X	8239	broad.mit.edu	37	chrX	41069829	41069829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattttttaattcattggtgGatagtttagatgaagcttta	12	19	8	2	0	1	2	1	1	0	1	1	3	1	3	0	2	1	2	0	2	6	10			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:41069829G>T	ENST00000324545.7	+	33	5716	c.5083G>T	c.(5083-5085)Gat>Tat	p.D1695Y	USP9X_ENST00000378308.2_Missense_Mutation_p.D1695Y	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1695					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTCATTGGTGGATAGTTTAGA	0.388													43	36					1.22674e-20	1.75755e-20	1	0	T	41069829	G	T	41069829	3	4	201	1	0	0	0	0	1	0	0	0	17186	1174	41	2	5209	2	USP9X	23	41069829	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	19206520	41069829	114200731	387	36223											
HUWE1	10075	broad.mit.edu	37	chrX	53634558	53634558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaatgggcagattgggaaGacccaaaatggtaaccaaag	16	6	12	7	0	1	2	1	0	0	2	1	3	1	3	2	3	1	2	2	3	6	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:53634558G>A	ENST00000342160.3	-	24	2879	c.2422C>T	c.(2422-2424)Ctt>Ttt	p.L808F	HUWE1_ENST00000218328.8_Missense_Mutation_p.L808F|HUWE1_ENST00000262854.6_Missense_Mutation_p.L808F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	808					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGATTGGGAAGACCCAAAATG	0.438													10	92					0	0	0	0	A	53634558	G	A	53634558	3	1	201	1	0	0	0	0	1	0	0	0	7514	942	33	2	10942	2	HUWE1	23	53634558	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	12564729	53634558	101636002	388	36224											
TSR2	90121	broad.mit.edu	37	chrX	54469925	54469925	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagacgggagtctgccccagGtgagcttatcacgggcacaa	11	6	13	11	2	2	2	1	1	1	1	2	3	2	3	2	3	2	2	2	3	3	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:54469925G>T	ENST00000375151.4	+	3	285		c.e3+1			NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)						rRNA processing		protein binding			breast(1)|endometrium(3)|lung(2)	6						TCTGCCCCAGGTGAGCTTATC	0.512													51	125					7.05377e-20	1.00096e-19	1	0	T	54469925	G	T	54469925	5	4	201	1	0	0	0	0	0	0	1	0	16760	1275	44	4	275	4	TSR2	23	54469925	Splice_Site	SNP	G	TCGA-CR-7374-01A-11D-2012-08	835367	54469925	100800635	389	36225											
FAAH2	158584	broad.mit.edu	37	chrX	57313310	57313310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctcttgcgggcgctaGgctttctcataggcttagta	5	15	11	10	2	2	0	1	0	2	0	4	0	3	0	1	3	1	5	1	3	4	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:57313310G>A	ENST00000374900.4	+	1	172	c.52G>A	c.(52-54)Ggc>Agc	p.G18S		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	18						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GCGGGCGCTAGGCTTTCTCAT	0.562										HNSCC(52;0.14)			8	31					0	0	0	0	A	57313310	G	A	57313310	3	1	201	1	0	0	0	0	1	0	0	0	5395	1000	35	4	54	4	FAAH2	23	57313310	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	2843385	57313310	97957250	390	36226											
KIAA2022	340533	broad.mit.edu	37	chrX	73960704	73960704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttctctccattgatggcagCcatgtatttccctttctttg	5	19	6	11	0	2	1	0	1	2	0	5	1	4	1	3	1	1	2	3	1	1	6			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:73960704C>T	ENST00000373468.1	-	3	4339	c.3688G>A	c.(3688-3690)Gct>Act	p.A1230T	KIAA2022_ENST00000055682.5_Missense_Mutation_p.A1230T			Q5QGS0	K2022_HUMAN	KIAA2022	1230					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGATGGCAGCCATGTATTTC	0.473													33	85					0	0	0	0	T	73960704	C	T	73960704	3	4	201	1	0	0	0	0	1	0	0	0	8320	739	26	4	870	4	KIAA2022	23	73960704	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	16647394	73960704	81309856	391	36227											
ATRX	546	broad.mit.edu	37	chrX	76874427	76874427	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatccaagtaaattttccttGataaaattaaccatacaatg	17	13	4	7	0	0	1	0	1	0	0	2	2	2	1	3	0	2	1	3	0	8	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:76874427G>C	ENST00000373344.5	-	21	5509	c.5295C>G	c.(5293-5295)atC>atG	p.I1765M	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.I1727M	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1765	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATTTTCCTTGATAAAATTAA	0.313			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						8	41					0	0	0	0	C	76874427	G	C	76874427	3	2	201	1	0	0	0	0	1	0	0	0	1212	1280	45	2	2243	2	ATRX	23	76874427	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	2913723	76874427	78396133	392	36228											
PABPC5	140886	broad.mit.edu	37	chrX	90690736	90690736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccgaatctgccgtgatccgGtgacccgcagccccctgggc	5	6	12	18	4	1	2	0	2	1	0	2	3	2	2	6	2	2	1	6	2	1	0			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:90690736G>T	ENST00000312600.3	+	2	374	c.160G>T	c.(160-162)Gtg>Ttg	p.V54L	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	54	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CCGTGATCCGGTGACCCGCAG	0.537													14	17					1.36491e-13	1.84883e-13	1	0	T	90690736	G	T	90690736	3	4	201	1	0	0	0	0	1	0	0	0	11438	1261	44	4	162	4	PABPC5	23	90690736	Missense_Mutation	SNP	G	TCGA-CR-7374-01A-11D-2012-08	13816309	90690736	64579824	393	36229											
TNMD	64102	broad.mit.edu	37	chrX	99854535	99854535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatagaatttgatcccatgCtggatgagagaggttattgt	12	13	12	4	0	0	4	0	2	0	2	1	7	1	5	1	2	1	2	1	2	4	4			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:99854535C>A	ENST00000373031.4	+	7	992	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	259						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						TGATCCCATGCTGGATGAGAG	0.478													17	10					3.41278e-10	4.50004e-10	1	0	A	99854535	C	A	99854535	3	1	201	1	0	0	0	0	1	0	0	0	16416	796	28	4	801	4	TNMD	23	99854535	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	9163799	99854535	55416025	394	36230											
ZMAT1	84460	broad.mit.edu	37	chrX	101139207	101139207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctgcacttttatgtaatCttcaagttcatcttggaaag	10	18	6	7	0	5	0	2	0	3	0	5	1	5	1	0	1	1	3	0	1	4	7			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:101139207C>G	ENST00000458570.1	-	9	2009	c.679G>C	c.(679-681)Gat>Cat	p.D227H	ZMAT1_ENST00000372782.3_Missense_Mutation_p.D398H|ZMAT1_ENST00000540921.1_Missense_Mutation_p.D398H|ZMAT1_ENST00000494068.1_5'UTR			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	227						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTATGTAATCTTCAAGTTCA	0.413													14	310					0	0	0	0	G	101139207	C	G	101139207	3	3	201	1	0	0	0	0	1	0	0	0	17786	913	32	2	728	2	ZMAT1	23	101139207	Missense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	1284672	101139207	54131353	395	36231											
GRIA3	2892	broad.mit.edu	37	chrX	122318400	122318400	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtacatggccaggcagAagaaaatggggcaaagcgtg	14	4	16	7	2	0	2	0	0	0	2	0	2	0	2	1	5	2	3	1	5	5	1			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:122318400A>G	ENST00000264357.5	+	1	305	c.13A>G	c.(13-15)Aag>Gag	p.K5E	GRIA3_ENST00000371256.5_Missense_Mutation_p.K5E|GRIA3_ENST00000371264.3_Missense_Mutation_p.K5E|GRIA3_ENST00000542149.1_Missense_Mutation_p.K5E|GRIA3_ENST00000371266.1_Missense_Mutation_p.K5E|GRIA3_ENST00000371251.1_Missense_Mutation_p.K5E	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	5					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGCCAGGCAGAAGAAAATGGG	0.483													94	97					0	0	0	0	G	122318400	A	G	122318400	3	3	201	1	0	0	0	0	1	0	0	0	6819	247	9	5	15	5	GRIA3	23	122318400	Missense_Mutation	SNP	A	TCGA-CR-7374-01A-11D-2012-08	21179193	122318400	32952160	396	36232											
SLITRK2	84631	broad.mit.edu	37	chrX	144906314	144906314	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgccccttcctatgaatctCgacgccaaaaccaagacaga	13	8	6	14	2	1	3	0	1	1	2	3	4	2	3	5	0	2	0	5	0	5	3			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:144906314C>T	ENST00000370490.1	+	1	6626	c.2371C>T	c.(2371-2373)Cga>Tga	p.R791*	SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.R791*|SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.R791*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.R791*|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.R791*			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	791						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTATGAATCTCGACGCCAAAA	0.453													98	109					0	0	0	0	T	144906314	C	T	144906314	4	4	201	1	0	0	0	0	0	1	0	0	14831	876	31	1	2373	1	SLITRK2	23	144906314	Nonsense_Mutation	SNP	C	TCGA-CR-7374-01A-11D-2012-08	22587914	144906314	10364246	397	36233											
FLNA	2316	broad.mit.edu	37	chrX	153594777	153594777	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctggcgtcaccctgtgacTtatccacgtacacctcgaag	8	10	9	14	3	1	1	1	1	0	0	3	2	2	1	3	1	2	2	3	1	3	2			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:153594777T>A	ENST00000422373.1	-	8	1375	c.1127A>T	c.(1126-1128)aAg>aTg	p.K376M	FLNA_ENST00000344736.4_Missense_Mutation_p.K376M|FLNA_ENST00000360319.4_Missense_Mutation_p.K376M|FLNA_ENST00000369850.3_Missense_Mutation_p.K376M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	376					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCCTGTGACTTATCCACGTA	0.597													13	73					0	0	0	0	A	153594777	T	A	153594777	3	1	201	1	0	0	0	0	1	0	0	0	5978	1609	56	5	6980	5	FLNA	23	153594777	Missense_Mutation	SNP	T	TCGA-CR-7374-01A-11D-2012-08	8688463	153594777	1675783	398	36234											
PRAMEF2	65122	broad.mit.edu	37	chr1	12920037	12920037	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatggttagtcaccagattCacctctgtgttcctcaggct	7	13	10	11	0	4	1	3	0	1	1	5	2	5	2	3	3	0	3	3	3	1	3			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr1:12920037C>T	ENST00000240189.2	+	3	864	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	259										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCAGATTCACCTCTGTGT	0.458													10	125					0	0	0	0	T	12920037	C	T	12920037	2	4	202	1	0	0	0	0	0	0	0	1	12512	825	29	2		2	PRAMEF2	1	12920037	Silent	SNP	C	TCGA-CR-7376-01A-11D-2129-08		12920037	236330584	1	36235											
MPL	4352	broad.mit.edu	37	chr1	43812539	43812539	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagtggcagcacccatcGtcctgggcagcccaagagac	9	6	13	13	1	0	1	0	0	0	1	2	3	1	2	3	3	2	3	3	3	1	1			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr1:43812539G>A	ENST00000372470.3	+	8	1284	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	MPL_ENST00000413998.2_Silent_p.S414S	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	414	Fibronectin type-III 2.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCACCCATCGTCCTGGGCAG	0.567			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						10	69					0	0	0	0	A	43812539	G	A	43812539	2	1	202	1	0	0	0	0	0	0	0	1	9800	1132	40	1		1	MPL	1	43812539	Silent	SNP	G	TCGA-CR-7376-01A-11D-2129-08	30892502	43812539	205438082	2	36236											
PXDN	7837	broad.mit.edu	37	chr2	1652027	1652027	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgccgatagattgcagtaGaccctgtagtcgtggtaggg	8	9	15	9	3	0	2	0	0	0	2	1	3	0	2	3	2	1	4	3	2	4	5			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr2:1652027G>C	ENST00000252804.4	-	17	3575	c.3525C>G	c.(3523-3525)gtC>gtG	p.V1175V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1175					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GATTGCAGTAGACCCTGTAGT	0.572													16	166					0	0	0	0	C	1652027	G	C	1652027	2	2	202	1	0	0	0	0	0	0	0	1	12929	929	33	2		2	PXDN	2	1652027	Silent	SNP	G	TCGA-CR-7376-01A-11D-2129-08		1652027	241547346	3	36237											
GREB1	9687	broad.mit.edu	37	chr2	11767109	11767109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagggatgtcccggaagcCggaggacctttatgtgcggc	8	7	16	10	3	0	1	0	0	0	1	1	5	1	5	3	5	2	0	3	5	2	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr2:11767109C>T	ENST00000381486.2	+	25	4628	c.4328C>T	c.(4327-4329)cCg>cTg	p.P1443L	GREB1_ENST00000234142.5_Missense_Mutation_p.P1443L|GREB1_ENST00000396123.1_Missense_Mutation_p.P441L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1443						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCCGGAAGCCGGAGGACCTT	0.532													4	65					0	0	0	0	T	11767109	C	T	11767109	3	4	202	1	0	0	0	0	1	0	0	0	6810	652	23	1	4530	1	GREB1	2	11767109	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	10115082	11767109	231432264	4	36238											
TTN	7273	broad.mit.edu	37	chr2	179439605	179439605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtacaccaccatcgttctCaggtgggtcccaagagaagg	10	8	12	11	1	1	1	1	0	1	1	4	2	2	1	3	4	1	2	3	4	3	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr2:179439605C>T	ENST00000589042.1	-	326	71478	c.71254G>A	c.(71254-71256)Gag>Aag	p.E23752K	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E22111K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E14812K|TTN_ENST00000342175.6_Missense_Mutation_p.E14879K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21184K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E14687K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22111	Fibronectin type-III 72.						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)			CCATCGTTCTCAGGTGGGTCC	0.453													5	21					0	0	0	0	T	179439605	C	T	179439605	3	4	202	1	0	0	0	0	1	0	0	0	16831	835	29	2	36873	2	TTN	2	179439605	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	167672496	179439605	63759768	5	36239											
ATG7	10533	broad.mit.edu	37	chr3	11389503	11389503	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctccagaaaatattcccCggtgtggtatgttgttgctt	7	14	11	9	2	0	1	0	0	0	1	2	1	2	1	3	3	1	5	3	3	4	6			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:11389503C>T	ENST00000354449.3	+	12	1303	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	ATG7_ENST00000446450.2_Silent_p.P387P|ATG7_ENST00000354956.5_Silent_p.P426P	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	426					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	p.P426P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AAATATTCCCCGGTGTGGTAT	0.478													8	123					0	0	0	0	T	11389503	C	T	11389503	2	4	202	1	0	0	0	0	0	0	0	1	1105	639	23	1		1	ATG7	3	11389503	Silent	SNP	C	TCGA-CR-7376-01A-11D-2129-08		11389503	186632927	6	36240											
TGFBR2	7048	broad.mit.edu	37	chr3	30713559	30713559	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagagaaggacatcttctCagacatcaatctgaagcatg	15	8	9	9	0	4	3	2	1	3	2	5	6	4	4	0	1	1	1	0	1	3	1			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:30713559C>G	ENST00000295754.5	+	4	1266	c.884C>G	c.(883-885)tCa>tGa	p.S295*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S320*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	295	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.S295*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACATCTTCTCAGACATCAAT	0.493													9	77					0	0	0	0	G	30713559	C	G	30713559	4	3	202	1	0	0	0	0	0	1	0	0	15916	838	29	2	977	2	TGFBR2	3	30713559	Nonsense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	19324056	30713559	167308871	7	36241											
SLC22A14	9389	broad.mit.edu	37	chr3	38347718	38347718	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtttggcacattccagcaGaggctagtagccctcacctt	9	10	10	12	0	1	1	1	0	0	1	2	2	2	1	3	2	2	5	3	2	2	5			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:38347718G>C	ENST00000273173.4	+	1	292	c.201G>C	c.(199-201)caG>caC	p.Q67H	SLC22A14_ENST00000448498.1_Missense_Mutation_p.Q67H	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	67						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CATTCCAGCAGAGGCTAGTAG	0.532													10	85					0	0	0	0	C	38347718	G	C	38347718	3	2	202	1	0	0	0	0	1	0	0	0	14533	933	33	2	203	2	SLC22A14	3	38347718	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08	7634159	38347718	159674712	8	36242											
ACOX2	8309	broad.mit.edu	37	chr3	58514635	58514635	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatggccagctgaggaaaGagtttctgctgttgtgtctg	7	13	14	7	0	2	3	0	2	2	1	2	4	2	4	1	2	2	4	1	2	1	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:58514635G>C	ENST00000302819.5	-	9	1332	c.1041C>G	c.(1039-1041)ctC>ctG	p.L347L	ACOX2_ENST00000459701.2_Silent_p.L333L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	347					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GCTGAGGAAAGAGTTTCTGCT	0.488													8	77					0	0	0	0	C	58514635	G	C	58514635	2	2	202	1	0	0	0	0	0	0	0	1	159	929	33	2		2	ACOX2	3	58514635	Silent	SNP	G	TCGA-CR-7376-01A-11D-2129-08	20166917	58514635	139507795	9	36243											
GPR15	2838	broad.mit.edu	37	chr3	98251012	98251012	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttacacagctgtgttcctGactggagtgctggggaacct	7	13	12	9	0	0	1	0	1	0	0	1	3	1	3	2	3	4	3	2	3	2	3			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:98251012G>T	ENST00000284311.3	+	1	270	c.135G>T	c.(133-135)ctG>ctT	p.L45L		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	45						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CTGTGTTCCTGACTGGAGTGC	0.502													7	68					8.12818e-05	9.00955e-05	1	0	T	98251012	G	T	98251012	2	4	202	1	0	0	0	0	0	0	0	1	6704	1277	45	2		2	GPR15	3	98251012	Silent	SNP	G	TCGA-CR-7376-01A-11D-2129-08	39736377	98251012	99771418	10	36244											
H1FX	8971	broad.mit.edu	37	chr3	129034495	129034495	+	Frame_Shift_Del	DEL	T	T	-																															acttgaggtaggtgcgcccaTtctgctggtcgaaccacgga																										TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:129034495delT	ENST00000333762.4	-	1	625	c.251delA	c.(250-252)atfs	p.N84fs	H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	84	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)|ovary(1)|urinary_tract(2)	4						GGTGCGCCCATTCTGCTGGTC	0.612													2	4	---	---	---	---					-	129034495	T	-	129034495	7	5	202	1	0	1	0	1	0	0	0	0	6973	1493	52	0	394	0	H1FX	3	129034495	Frame_Shift_Del	DEL	T	TCGA-CR-7376-01A-11D-2129-08	30783483	129034495	68987935	11	36245											
SLC34A2	10568	broad.mit.edu	37	chr4	25667818	25667818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttggggctggtgatcGgggtgctggtgaccgtcttg	2	14	18	7	2	1	2	0	2	1	0	2	2	1	2	1	6	1	3	1	6	0	3			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr4:25667818G>A	ENST00000382051.3	+	5	498	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	SLC34A2_ENST00000504570.1_Missense_Mutation_p.G149R|SLC34A2_ENST00000503434.1_Missense_Mutation_p.G149R|SLC34A2_ENST00000510033.2_3'UTR	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	150					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTGGTGATCGGGGTGCTGGT	0.507			T	ROS1	NSCLC								6	100					0	0	0	0	A	25667818	G	A	25667818	3	1	202	1	0	0	0	0	1	0	0	0	14656	1116	39	1	462	1	SLC34A2	4	25667818	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08		25667818	165486458	12	36246											
FAT4	79633	broad.mit.edu	37	chr4	126412367	126412367	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtggagaggctcaacaCacctcgccctagaaacccaa	15	4	9	13	1	1	3	1	0	0	3	2	4	1	3	3	2	2	1	3	2	5	1			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr4:126412367C>A	ENST00000394329.3	+	17	14403	c.14390C>A	c.(14389-14391)aCa>aAa	p.T4797K	FAT4_ENST00000335110.5_Missense_Mutation_p.T3038K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4797					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGCTCAACACACCTCGCCCT	0.527													6	71					3.59834e-05	4.087e-05	1	0	A	126412367	C	A	126412367	3	1	202	1	0	0	0	0	1	0	0	0	5737	478	17	4	14456	4	FAT4	4	126412367	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	100744549	126412367	64741909	13	36247											
TRIO	7204	broad.mit.edu	37	chr5	14504668	14504668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggcctcctcgacacctttGagacccccaccagctacatc	8	8	6	19	2	0	1	0	1	0	1	4	3	1	1	6	1	2	1	6	1	1	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr5:14504668G>C	ENST00000344204.4	+	55	8602	c.8578G>C	c.(8578-8580)Gag>Cag	p.E2860Q	TRIO_ENST00000344135.5_Missense_Mutation_p.E359Q|TRIO_ENST00000537187.1_Missense_Mutation_p.E2684Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2860	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CGACACCTTTGAGACCCCCAC	0.582													8	228					0	0	0	0	C	14504668	G	C	14504668	3	2	202	1	0	0	0	0	1	0	0	0	16647	1291	45	2	8796	2	TRIO	5	14504668	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08		14504668	166410592	14	36248											
SLC4A9	83697	broad.mit.edu	37	chr5	139747331	139747331	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggcttccacctggacctCttctgtgtggctgtgctgat	3	14	12	12	0	2	1	0	1	2	0	3	2	3	2	3	3	1	4	3	3	0	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr5:139747331C>G	ENST00000230993.6	+	16	2309	c.2274C>G	c.(2272-2274)ctC>ctG	p.L758L	SLC4A9_ENST00000507527.1_Silent_p.L758L|SLC4A9_ENST00000506545.1_Silent_p.L671L|SLC4A9_ENST00000432095.2_Silent_p.L720L|SLC4A9_ENST00000506757.2_Silent_p.L734L	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	758	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGACCTCTTCTGTGTGG	0.582													4	38					0	0	0	0	G	139747331	C	G	139747331	2	3	202	1	0	0	0	0	0	0	0	1	14748	900	32	2		2	SLC4A9	5	139747331	Silent	SNP	C	TCGA-CR-7376-01A-11D-2129-08	125242663	139747331	41167929	15	36249											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812277	140812277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgtccaggaccacggcCagccccctctctccgccact	5	6	9	21	3	1	0	0	0	1	0	4	1	3	1	8	3	1	0	8	3	0	0			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr5:140812277C>A	ENST00000252085.3	+	1	2093	c.1951C>A	c.(1951-1953)Cag>Aag	p.Q651K	PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGGCCAGCCCCCTCT	0.697													10	121					6.40141e-05	7.18207e-05	1	0	A	140812277	C	A	140812277	3	1	202	1	0	0	0	0	1	0	0	0	11624	595	21	4	1953	4	PCDHGA12	5	140812277	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	1064946	140812277	40102983	16	36250											
OR2J2	26707	broad.mit.edu	37	chr6	29141890	29141890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttactatctcagcacttCattcctcctttactttctgg	6	19	4	12	0	3	0	2	0	2	0	6	0	5	0	2	1	3	2	2	1	3	8			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr6:29141890C>T	ENST00000377167.2	+	1	580	c.478C>T	c.(478-480)Cat>Tat	p.H160Y		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H160D(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTCAGCACTTCATTCCTCCTT	0.463													19	250					0	0	0	0	T	29141890	C	T	29141890	3	4	202	1	0	0	0	0	1	0	0	0	11074	826	29	2	480	2	OR2J2	6	29141890	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08		29141890	141973177	17	36251											
TDRD6	221400	broad.mit.edu	37	chr6	46658969	46658969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaaaaacatctcccttgaAccctggaaccttgtgccttg	10	13	6	12	0	1	1	0	1	1	0	2	2	1	2	4	1	4	0	4	1	5	5			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr6:46658969A>G	ENST00000544460.1	+	1	3358	c.3104A>G	c.(3103-3105)aAc>aGc	p.N1035S	TDRD6_ENST00000316081.6_Missense_Mutation_p.N1035S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1035	Tudor 5.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCTCCCTTGAACCCTGGAACC	0.368													4	83					0	0	0	0	G	46658969	A	G	46658969	3	3	202	1	0	0	0	0	1	0	0	0	15828	43	2	5	3106	5	TDRD6	6	46658969	Missense_Mutation	SNP	A	TCGA-CR-7376-01A-11D-2129-08	17517079	46658969	124456098	18	36252											
AIM1	202	broad.mit.edu	37	chr6	106967352	106967352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaccaaagttaccgtctcgGaagaagagattctgccagca	15	7	9	10	2	2	2	0	0	2	2	3	4	2	3	3	1	4	2	3	1	5	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr6:106967352G>A	ENST00000369066.3	+	2	1532	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	349							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TACCGTCTCGGAAGAAGAGAT	0.438													8	67					0	0	0	0	A	106967352	G	A	106967352	3	1	202	1	0	0	0	0	1	0	0	0	430	1175	41	2	1051	2	AIM1	6	106967352	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08	60308383	106967352	64147715	19	36253											
MYO1G	64005	broad.mit.edu	37	chr7	45010270	45010270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcacgccgaggatcccGgccccggggttccatgacac	7	5	12	17	4	1	1	1	1	0	0	3	3	3	2	6	4	0	1	6	4	0	1			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:45010270G>A	ENST00000258787.7	-	9	1274	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	380	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CGAGGATCCCGGCCCCGGGGT	0.602													12	118					0	0	0	0	A	45010270	G	A	45010270	3	1	202	1	0	0	0	0	1	0	0	0	10144	1115	39	1	1974	1	MYO1G	7	45010270	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08		45010270	114128393	20	36254											
SUMF2	25870	broad.mit.edu	37	chr7	56136270	56136270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatggtgacgggcctgtgCgggaggcgacagtgaaaccc	9	5	18	9	3	0	3	0	2	0	1	0	6	0	4	2	4	2	0	2	4	1	0	rs150976522	byFrequency	TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:56136270C>T	ENST00000434526.2	+	2	251	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	SUMF2_ENST00000342190.6_Missense_Mutation_p.R74W|SUMF2_ENST00000413756.1_Missense_Mutation_p.R55W|SUMF2_ENST00000395436.2_Missense_Mutation_p.R74W|SUMF2_ENST00000395435.2_Missense_Mutation_p.R74W|SUMF2_ENST00000275607.9_Intron|SUMF2_ENST00000437307.2_Missense_Mutation_p.R55W	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	55						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGGGCCTGTGCGGGAGGCGAC	0.507													4	46					0	0	0	0	T	56136270	C	T	56136270	3	4	202	1	0	0	0	0	1	0	0	0	15476	759	27	1	226	1	SUMF2	7	56136270	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	11126000	56136270	103002393	21	36255											
KCTD7	154881	broad.mit.edu	37	chr7	66262383	66262383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccagaaagagtcgagaaGataatggatcagattgaaaa	18	7	10	6	1	1	6	1	1	0	5	3	8	2	7	2	1	0	0	2	1	5	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:66262383G>C	ENST00000380828.2	+	8	892	c.738G>C	c.(736-738)aaG>aaC	p.K246N	RABGEF1_ENST00000450873.2_Missense_Mutation_p.K206N|RABGEF1_ENST00000437078.2_Missense_Mutation_p.K220N|KCTD7_ENST00000451741.2_Missense_Mutation_p.K206N|RABGEF1_ENST00000439720.2_Missense_Mutation_p.K219N|RABGEF1_ENST00000284957.5_Missense_Mutation_p.K206N|KCTD7_ENST00000510829.2_Missense_Mutation_p.K206N|RABGEF1_ENST00000484547.2_3'UTR			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GAGTCGAGAAGATAATGGATC	0.318													4	46					0	0	0	0	C	66262383	G	C	66262383	3	2	202	1	0	0	0	0	1	0	0	0	8167	933	33	2		2	KCTD7	7	66262383	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08	10126113	66262383	92876280	22	36256											
AKAP9	10142	broad.mit.edu	37	chr7	91682106	91682106	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgacattaacatgtggtCaaaagtaactgaggaaggaa	19	8	10	4	0	1	2	1	2	0	0	1	4	1	4	0	3	2	1	0	3	7	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:91682106C>G	ENST00000359028.2	+	23	5696	c.5471C>G	c.(5470-5472)tCa>tGa	p.S1824*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.S1812*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.S1824*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1824					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACATGTGGTCAAAAGTAACT	0.373			T	BRAF	papillary thyroid								9	61					0	0	0	0	G	91682106	C	G	91682106	4	3	202	1	0	0	0	0	0	1	0	0	459	838	29	2	5521	2	AKAP9	7	91682106	Nonsense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	25419723	91682106	67456557	23	36257											
PCOLCE	5118	broad.mit.edu	37	chr7	100205594	100205594	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatgggccaggtagaagaGaacagaggccccgtccttcc	10	6	13	12	1	0	4	0	1	0	3	2	5	2	4	5	3	1	1	5	3	3	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:100205594G>A	ENST00000223061.5	+	9	1498	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	406	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGGTAGAAGAGAACAGAGGCC	0.547													12	105					0	0	0	0	A	100205594	G	A	100205594	2	1	202	1	0	0	0	0	0	0	0	1	11665	933	33	2		2	PCOLCE	7	100205594	Silent	SNP	G	TCGA-CR-7376-01A-11D-2129-08	8523488	100205594	58933069	24	36258											
MUC17	140453	broad.mit.edu	37	chr7	100685103	100685103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcctctcagtaccacgcCggtggccagttctgaggcta	7	10	11	13	2	2	1	1	1	2	0	3	1	2	1	4	3	2	3	4	3	3	4	rs146748610	byFrequency	TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:100685103C>T	ENST00000306151.4	+	3	10470	c.10406C>T	c.(10405-10407)cCg>cTg	p.P3469L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3469	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTACCACGCCGGTGGCCAGT	0.498													33	350					0	0	0	0	T	100685103	C	T	100685103	3	4	202	1	0	0	0	0	1	0	0	0	10044	652	23	1	10416	1	MUC17	7	100685103	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	479509	100685103	58453560	25	36259											
PIK3CG	5294	broad.mit.edu	37	chr7	106520087	106520087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaacatggtgatgatctgCgccaagacatgcttatttta	12	14	8	7	1	1	3	0	2	1	1	1	3	1	3	1	1	3	1	1	1	5	4			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:106520087C>T	ENST00000359195.3	+	6	2825	c.2515C>T	c.(2515-2517)Cgc>Tgc	p.R839C	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R839C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R839C	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	839	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R839C(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGATGATCTGCGCCAAGACAT	0.333													6	67					0	0	0	0	T	106520087	C	T	106520087	3	4	202	1	0	0	0	0	1	0	0	0	11988	768	27	1	2533	1	PIK3CG	7	106520087	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	5834984	106520087	52618576	26	36260											
LAMB1	3912	broad.mit.edu	37	chr7	107572693	107572693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatggctttctgccaggCgttgtgtgcaacagtaacca	8	11	11	11	1	1	0	0	0	1	0	2	0	2	0	3	2	4	4	3	2	2	3			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:107572693C>T	ENST00000393561.1	-	26	4574	c.4390G>A	c.(4390-4392)Gcc>Acc	p.A1464T	LAMB1_ENST00000222399.6_Missense_Mutation_p.A1440T|LAMB1_ENST00000474380.1_5'UTR			P07942	LAMB1_HUMAN	laminin, beta 1	1440	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.A1440T(2)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTGCCAGGCGTTGTGTGCA	0.552													19	179					0	0	0	0	T	107572693	C	T	107572693	3	4	202	1	0	0	0	0	1	0	0	0	8663	768	27	1	1070	1	LAMB1	7	107572693	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	1052606	107572693	51565970	27	36261											
OR6B1	135946	broad.mit.edu	37	chr7	143701885	143701885	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacctcgagttatccatgccTtcaacatgaacaaaattatt	14	12	5	10	1	1	1	1	1	0	0	3	3	2	1	3	0	3	1	3	0	6	4			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:143701885T>G	ENST00000408922.2	+	1	864	c.796T>G	c.(796-798)Ttc>Gtc	p.F266V		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TATCCATGCCTTCAACATGAA	0.428													8	90					0	0	0	0	G	143701885	T	G	143701885	3	3	202	1	0	0	0	0	1	0	0	0	11258	1609	56	5	798	5	OR6B1	7	143701885	Missense_Mutation	SNP	T	TCGA-CR-7376-01A-11D-2129-08	36129192	143701885	15436778	28	36262											
PRKAG2	51422	broad.mit.edu	37	chr7	151573605	151573605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcaccggaatgtgcacgCgcagcgaacgcctcttctgg	8	7	12	14	5	3	0	1	0	2	0	3	3	3	1	2	2	3	2	2	2	2	1			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:151573605C>T	ENST00000287878.4	-	1	605	c.101G>A	c.(100-102)cGc>cAc	p.R34H		NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	34					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AATGTGCACGCGCAGCGAACG	0.647													7	68					0	0	0	0	T	151573605	C	T	151573605	3	4	202	1	0	0	0	0	1	0	0	0	12581	768	27	1	1672	1	PRKAG2	7	151573605	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	7871720	151573605	7565058	29	36263											
PREX2	80243	broad.mit.edu	37	chr8	69005941	69005941	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagcaggggatgctttTgactgtaaagtagaaggtag	13	10	15	3	0	0	3	0	2	0	1	0	5	0	4	0	3	2	5	0	3	6	5			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr8:69005941T>C	ENST00000288368.4	+	21	2629	c.2352T>C	c.(2350-2352)ttT>ttC	p.F784F	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	784					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGGATGCTTTTGACTGTAAAG	0.403													9	102					0	0	0	0	C	69005941	T	C	69005941	2	2	202	1	0	0	0	0	0	0	0	1	12557	1809	63	5		5	PREX2	8	69005941	Silent	SNP	T	TCGA-CR-7376-01A-11D-2129-08		69005941	77358081	30	36264											
C8orf34	116328	broad.mit.edu	37	chr8	69358591	69358591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaacaagaagggatttcaGaagctatgataaaccttggc	16	8	11	6	0	1	3	1	1	0	2	1	5	1	5	1	3	3	1	1	3	7	4			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr8:69358591G>A	ENST00000337103.4	+	2	1762	c.170G>A	c.(169-171)aGa>aAa	p.R57K	C8orf34_ENST00000523686.1_Missense_Mutation_p.R82K|C8orf34_ENST00000348340.2_Missense_Mutation_p.R82K|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000539993.1_Missense_Mutation_p.R82K|C8orf34_ENST00000518698.1_Missense_Mutation_p.R168K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	82					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGGGATTTCAGAAGCTATGAT	0.348													4	58					0	0	0	0	A	69358591	G	A	69358591	3	1	202	1	0	0	0	0	1	0	0	0	2446	942	33	2	176	2	C8orf34	8	69358591	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08	352650	69358591	77005431	31	36265											
RSPO2	340419	broad.mit.edu	37	chr8	109001316	109001316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcatatctggggctcggtgtCcatagtacccggatgggcag	7	10	14	10	2	2	0	1	0	1	0	4	1	3	1	2	5	1	3	2	5	3	3			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr8:109001316C>T	ENST00000276659.5	-	3	871	c.251G>A	c.(250-252)gGa>gAa	p.G84E	RSPO2_ENST00000517939.1_Missense_Mutation_p.G17E|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	84					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GGCTCGGTGTCCATAGTACCC	0.488													4	78					0	0	0	0	T	109001316	C	T	109001316	3	4	202	1	0	0	0	0	1	0	0	0	13795	855	30	2	496	2	RSPO2	8	109001316	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	39642725	109001316	37362706	32	36266											
CSMD3	114788	broad.mit.edu	37	chr8	113308235	113308235	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaattccacaatgacccGctgaaatacgttataaagta	15	10	7	9	2	0	2	0	2	0	0	1	3	1	3	2	1	1	3	2	1	8	5			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr8:113308235G>A	ENST00000297405.5	-	54	8685	c.8440_splice	c.e54-1	p.A2814_splice	CSMD3_ENST00000455883.2_Splice_Site_p.A2645_splice|CSMD3_ENST00000343508.3_Splice_Site_p.A2774_splice|CSMD3_ENST00000352409.3_Splice_Site_p.A2744_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2814	Sushi 17.					integral to membrane|plasma membrane		p.A2814V(1)|p.A2814E(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACAATGACCCGCTGAAATACG	0.299										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	35					0	0	0	0	A	113308235	G	A	113308235	5	1	202	1	0	0	0	0	0	0	1	0	3978	1101	38	1	2754	1	CSMD3	8	113308235	Splice_Site	SNP	G	TCGA-CR-7376-01A-11D-2129-08	4306919	113308235	33055787	33	36267											
GNE	10020	broad.mit.edu	37	chr9	36236908	36236908	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgttaattcaaacattttTatggaatgcttaatgtcagt	14	17	6	4	0	2	0	2	0	0	0	2	1	2	1	0	1	2	2	0	1	6	6			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr9:36236908T>A	ENST00000396594.3	-	4	894	c.783A>T	c.(781-783)atA>atT	p.I261I	GNE_ENST00000543356.2_Silent_p.I225I|GNE_ENST00000377902.5_Silent_p.I230I|GNE_ENST00000539208.1_Intron|GNE_ENST00000447283.2_Silent_p.I230I|GNE_ENST00000539815.1_Silent_p.I230I	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	230					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CAAACATTTTTATGGAATGCT	0.348													6	70					0	0	0	0	A	36236908	T	A	36236908	2	1	202	1	0	0	0	0	0	0	0	1	6573	1744	61	5		5	GNE	9	36236908	Silent	SNP	T	TCGA-CR-7376-01A-11D-2129-08		36236908	104976523	34	36268											
NOTCH1	4851	broad.mit.edu	37	chr9	139411828	139411828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttgacctcgcagtgcacaCcctcgtagcctgtggggtgg	5	10	14	12	2	0	1	0	1	0	0	2	1	0	1	3	3	2	4	3	3	1	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr9:139411828C>A	ENST00000277541.6	-	9	1526	c.1451G>T	c.(1450-1452)gGt>gTt	p.G484V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	484	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G484V(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGTGCACACCCTCGTAGCC	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			3	16					0.004672	0.00505675	1	0	A	139411828	C	A	139411828	3	1	202	1	0	0	0	0	1	0	0	0	10617	507	18	4	6320	4	NOTCH1	9	139411828	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	103174920	139411828	1801603	35	36269											
ARMC4	55130	broad.mit.edu	37	chr10	28228887	28228887	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcactatttaggttcttgAcaaggttttcaatgatcctt	9	18	6	8	0	3	2	2	2	2	0	5	2	4	2	1	2	0	2	1	2	4	8			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr10:28228887A>G	ENST00000305242.5	-	14	2128	c.2036T>C	c.(2035-2037)gTc>gCc	p.V679A	ARMC4_ENST00000545014.1_Missense_Mutation_p.V204A|ARMC4_ENST00000537576.1_Missense_Mutation_p.V371A	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	679							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TAGGTTCTTGACAAGGTTTTC	0.433													5	58					0	0	0	0	G	28228887	A	G	28228887	3	3	202	1	0	0	0	0	1	0	0	0	957	275	10	5	1126	5	ARMC4	10	28228887	Missense_Mutation	SNP	A	TCGA-CR-7376-01A-11D-2129-08		28228887	107305860	36	36270											
MTPAP	55149	broad.mit.edu	37	chr10	30630542	30630542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattttgcatctcagagaatCtccttttgggaatcttgtct	8	17	7	9	0	4	1	1	0	4	1	6	3	4	2	1	1	1	1	1	1	2	5			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr10:30630542C>G	ENST00000358107.4	-	3	574	c.575G>C	c.(574-576)aGa>aCa	p.R192T	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Missense_Mutation_p.R62T			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	62					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTCAGAGAATCTCCTTTTGGG	0.348													6	82					0	0	0	0	G	30630542	C	G	30630542	3	3	202	1	0	0	0	0	1	0	0	0	10026	913	32	2	1595	2	MTPAP	10	30630542	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	2401655	30630542	104904205	37	36271											
C10orf11	83938	broad.mit.edu	37	chr10	77818491	77818491	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaagtaaccagacaagaaCgagaggaggcgttggtcaga	17	4	14	6	2	1	5	1	0	0	5	1	7	1	6	1	3	2	2	1	3	4	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr10:77818491C>T	ENST00000372499.1	+	4	597	c.382C>T	c.(382-384)Cga>Tga	p.R128*	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	128	LRRCT.									endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					CAGACAAGAACGAGAGGAGGC	0.478													13	106					0	0	0	0	T	77818491	C	T	77818491	4	4	202	1	0	0	0	0	0	1	0	0	1592	528	19	1	396	1	C10orf11	10	77818491	Nonsense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	47187949	77818491	57716256	38	36272											
MUC6	4588	broad.mit.edu	37	chr11	1018367	1018367	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatggtacctgttggcgcTgagtggttggaggcagatgt	7	11	18	5	1	0	2	0	1	0	1	0	4	0	4	1	6	1	5	1	6	2	3			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr11:1018367T>A	ENST00000421673.2	-	31	4484	c.4434A>T	c.(4432-4434)tcA>tcT	p.S1478S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1478	Pro-rich.|Thr-rich.				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)		CTGTTGGCGCTGAGTGGTTGG	0.587													20	206					0	0	0	0	A	1018367	T	A	1018367	2	1	202	1	0	0	0	0	0	0	0	1	10050	1567	55	5		5	MUC6	11	1018367	Silent	SNP	T	TCGA-CR-7376-01A-11D-2129-08		1018367	133988149	39	36273											
MOB2	81532	broad.mit.edu	37	chr11	1501645	1501645	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgcacacggccatcgtctGacacgtctctcctgtgcaga	7	10	10	14	3	2	2	0	1	2	1	5	2	3	2	2	1	2	3	2	1	0	1			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr11:1501645G>A	ENST00000329957.6	-	3	532	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	84						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						GCCATCGTCTGACACGTCTCT	0.587													10	82					0	0	0	0	A	1501645	G	A	1501645	4	1	202	1	0	0	0	0	0	1	0	0	9751	1299	45	2	475	2	MOB2	11	1501645	Nonsense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08	483278	1501645	133504871	40	36274											
TMEM25	84866	broad.mit.edu	37	chr11	118404820	118404820	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtccaaccttcagctcAatgacctcactccagattcc	9	10	4	18	1	3	2	3	1	0	1	7	2	7	2	6	0	2	1	6	0	2	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr11:118404820A>T	ENST00000524725.1	+	5	1193	c.781A>T	c.(781-783)Aat>Tat	p.N261Y	TMEM25_ENST00000354284.4_Missense_Mutation_p.N305Y|TMEM25_ENST00000544878.1_Missense_Mutation_p.N208Y|TMEM25_ENST00000411589.2_Missense_Mutation_p.N261Y|TMEM25_ENST00000313236.5_Missense_Mutation_p.N305Y|TMEM25_ENST00000354064.7_Missense_Mutation_p.N157Y|TMEM25_ENST00000359862.4_Missense_Mutation_p.N261Y|TMEM25_ENST00000533102.1_Missense_Mutation_p.N305Y|TMEM25_ENST00000442938.2_Missense_Mutation_p.N261Y			Q86YD3	TMM25_HUMAN	transmembrane protein 25	305						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCTTCAGCTCAATGACCTCAC	0.517													7	46					0	0	0	0	T	118404820	A	T	118404820	3	4	202	1	0	0	0	0	1	0	0	0	16244	130	5	5	935	5	TMEM25	11	118404820	Missense_Mutation	SNP	A	TCGA-CR-7376-01A-11D-2129-08	116903175	118404820	16601696	41	36275											
DCP1B	196513	broad.mit.edu	37	chr12	2107117	2107117	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccttgtataaacaaataAggttccttccacatcagttt	13	15	4	9	0	1	0	1	0	0	0	3	0	3	0	3	1	2	3	3	1	6	8			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:2107117A>T	ENST00000280665.6	-	2	254	c.175T>A	c.(175-177)Tta>Ata	p.L59I	DCP1B_ENST00000397173.4_5'UTR|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	59					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TAAACAAATAAGGTTCCTTCC	0.308													7	81					0	0	0	0	T	2107117	A	T	2107117	3	4	202	1	0	0	0	0	1	0	0	0	4331	69	3	5	1710	5	DCP1B	12	2107117	Missense_Mutation	SNP	A	TCGA-CR-7376-01A-11D-2129-08		2107117	131744778	42	36276											
A2M	2	broad.mit.edu	37	chr12	9251236	9251236	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcagcatcaggcttcatGagcagcacgctttggtccac	9	9	10	13	1	3	1	3	1	0	0	4	1	4	1	1	2	4	6	1	2	0	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:9251236G>A	ENST00000318602.7	-	15	2125	c.1818C>T	c.(1816-1818)ctC>ctT	p.L606L		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	606					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CAGGCTTCATGAGCAGCACGC	0.617													3	17					0	0	0	0	A	9251236	G	A	9251236	2	1	202	1	0	0	0	0	0	0	0	1	4	1277	45	2		2	A2M	12	9251236	Silent	SNP	G	TCGA-CR-7376-01A-11D-2129-08	7144119	9251236	124600659	43	36277											
CAPRIN2	65981	broad.mit.edu	37	chr12	30869532	30869532	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttgctgtggtaaaactttGattgtagccaggtgaataag	12	13	11	5	0	0	2	0	2	0	0	0	2	0	2	1	2	3	3	1	2	5	6			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:30869532G>C	ENST00000251071.5	-	14	3124	c.2374C>G	c.(2374-2376)Caa>Gaa	p.Q792E	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Q792E|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.Q757E|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Q743E|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Q459E	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	792					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTAAAACTTTGATTGTAGCCA	0.408													14	190					0	0	0	0	C	30869532	G	C	30869532	3	2	202	1	0	0	0	0	1	0	0	0	2661	1299	45	2	1029	2	CAPRIN2	12	30869532	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08	21618296	30869532	102982363	44	36278											
ANO6	196527	broad.mit.edu	37	chr12	45782051	45782051	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaccagaatacgaagcaCgatgtactcacgtagtgata	14	7	9	11	4	1	2	1	1	0	1	1	5	1	2	2	0	3	3	2	0	6	4			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:45782051C>G	ENST00000320560.8	+	11	1475	c.1273C>G	c.(1273-1275)Cga>Gga	p.R425G	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.R425G|ANO6_ENST00000435642.1_Missense_Mutation_p.R425G|ANO6_ENST00000423947.3_Missense_Mutation_p.R446G|ANO6_ENST00000441606.2_Missense_Mutation_p.R407G	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	425					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATACGAAGCACGATGTACTCA	0.463													10	120					0	0	0	0	G	45782051	C	G	45782051	3	3	202	1	0	0	0	0	1	0	0	0	700	528	19	3	1335	3	ANO6	12	45782051	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	14912519	45782051	88069844	45	36279											
CRY1	1407	broad.mit.edu	37	chr12	107393445	107393445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctgtgtcatgatggcatCaatccatggaaagcctgtcc	11	10	10	10	0	2	1	2	1	0	0	4	2	4	2	3	2	2	2	3	2	3	0			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:107393445C>G	ENST00000008527.5	-	7	1888	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	341	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ATGATGGCATCAATCCATGGA	0.493													4	61					0	0	0	0	G	107393445	C	G	107393445	3	3	202	1	0	0	0	0	1	0	0	0	3933	826	29	2	763	2	CRY1	12	107393445	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	61611394	107393445	26458450	46	36280											
RNF34	80196	broad.mit.edu	37	chr12	121867998	121867998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattgcgttgtggtctgttGtcccacgttccaaatggaaa	9	13	11	8	2	1	0	0	0	1	0	3	2	3	1	2	2	1	3	2	2	3	4			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:121867998G>T	ENST00000392464.2	+	7	1294	c.1225G>T	c.(1225-1227)Gtc>Ttc	p.V409F	KDM2B_ENST00000377069.4_Intron|KDM2B_ENST00000377071.4_3'UTR|KDM2B_ENST00000536437.1_3'UTR|KDM2B_ENST00000542973.1_Intron			Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	0					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		GTGGTCTGTTGTCCCACGTTC	0.473													8	79					0.000157383	0.000172372	1	0	T	121867998	G	T	121867998	3	4	202	1	0	0	0	0	1	0	0	0	13574	1392	48	4		4	RNF34	12	121867998	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08	14474553	121867998	11983897	47	36281											
NBEA	26960	broad.mit.edu	37	chr13	36229804	36229804	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attggtggggactgctacatCgtgtccggatctcgagatgc	7	11	14	9	3	1	1	0	0	1	1	4	4	2	3	1	4	3	1	1	4	1	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr13:36229804C>T	ENST00000540320.1	+	54	8751	c.8217C>T	c.(8215-8217)atC>atT	p.I2739I	NBEA_ENST00000537702.1_Silent_p.I532I|NBEA_ENST00000379922.3_Silent_p.I317I|NBEA_ENST00000379939.2_Silent_p.I2736I|NBEA_ENST00000400445.3_Silent_p.I2739I|NBEA_ENST00000310336.4_Silent_p.I2739I			Q8NFP9	NBEA_HUMAN	neurobeachin	2739						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACTGCTACATCGTGTCCGGAT	0.512													5	126					0	0	0	0	T	36229804	C	T	36229804	2	4	202	1	0	0	0	0	0	0	0	1	10257	874	31	1		1	NBEA	13	36229804	Silent	SNP	C	TCGA-CR-7376-01A-11D-2129-08		36229804	78940074	48	36282											
HEATR5A	25938	broad.mit.edu	37	chr14	31774252	31774252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttagggtttaattctgggaGctgtctaactagaatgcata	11	15	10	5	0	2	1	0	0	2	1	2	2	2	2	0	2	3	3	0	2	6	8			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr14:31774252G>A	ENST00000543095.2	-	32	5282	c.5098C>T	c.(5098-5100)Ctc>Ttc	p.L1700F	HEATR5A_ENST00000439348.1_Missense_Mutation_p.L1694F|HEATR5A_ENST00000389961.3_Missense_Mutation_p.L1694F|HEATR5A_ENST00000439727.1_Missense_Mutation_p.L1407F	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1694							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AATTCTGGGAGCTGTCTAACT	0.448													16	108					0	0	0	0	A	31774252	G	A	31774252	3	1	202	1	0	0	0	0	1	0	0	0	7081	971	34	4	1062	4	HEATR5A	14	31774252	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08		31774252	75575288	49	36283											
CCDC88C	440193	broad.mit.edu	37	chr14	91780018	91780018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctggtgaagcgcatggtCtccaccagcctgcgcagctc	6	8	13	14	2	1	1	0	1	1	0	3	1	1	1	3	2	5	4	3	2	1	0			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr14:91780018C>G	ENST00000389857.6	-	15	2228	c.2142G>C	c.(2140-2142)gaG>gaC	p.E714D		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	714					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	p.E714E(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCGCATGGTCTCCACCAGCC	0.602													6	75					0	0	0	0	G	91780018	C	G	91780018	3	3	202	1	0	0	0	0	1	0	0	0	2892	912	32	2	4008	2	CCDC88C	14	91780018	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	60005766	91780018	15569522	50	36284											
VRK1	7443	broad.mit.edu	37	chr14	97321591	97321591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagattatggccttgcttatCggtactgcccagaaggagtt	9	13	11	8	1	0	2	0	0	0	2	1	3	0	3	2	3	3	3	2	3	5	6	rs144600646	by1000genomes	TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr14:97321591C>T	ENST00000216639.3	+	8	756	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	203	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		CCTTGCTTATCGGTACTGCCC	0.408													7	103					0	0	0	0	T	97321591	C	T	97321591	3	4	202	1	0	0	0	0	1	0	0	0	17315	875	31	1	633	1	VRK1	14	97321591	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	5541573	97321591	10027949	51	36285											
RNF40	9810	broad.mit.edu	37	chr16	30777510	30777510	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgaatgcagagttagaGgaaaaccaggaactggccaa	16	6	12	7	0	0	3	0	1	0	2	0	5	0	5	2	3	4	3	2	3	6	1			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr16:30777510G>C	ENST00000324685.6	+	9	1455	c.1020G>C	c.(1018-1020)gaG>gaC	p.E340D	RNF40_ENST00000563683.1_Intron|RNF40_ENST00000357890.5_Intron|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	340					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CAGAGTTAGAGGAAAACCAGG	0.592													5	92					0	0	0	0	C	30777510	G	C	30777510	3	2	202	1	0	0	0	0	1	0	0	0	13578	991	35	4	1050	4	RNF40	16	30777510	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08		30777510	59577243	52	36286											
HPR	3250	broad.mit.edu	37	chr16	72108189	72108189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctctctttgcagatgaccGcttcccgaagccccctgaga	7	10	8	16	2	2	3	0	2	2	2	4	5	3	3	4	0	2	2	4	0	1	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr16:72108189G>A	ENST00000540303.2	+	3	130	c.98G>A	c.(97-99)cGc>cAc	p.R33H	HPR_ENST00000228226.8_Missense_Mutation_p.R70H|HPR_ENST00000561690.1_Missense_Mutation_p.R33H|HPR_ENST00000356967.5_Missense_Mutation_p.R33H	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	33					proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GCAGATGACCGCTTCCCGAAG	0.483													12	75					0	0	0	0	A	72108189	G	A	72108189	3	1	202	1	0	0	0	0	1	0	0	0	7387	1087	38	1	108	1	HPR	16	72108189	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08	41330679	72108189	18246564	53	36287											
DPEP1	1800	broad.mit.edu	37	chr16	89696859	89696859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggccccttgtggccgtctGcactgcagacttctttcggg	3	12	13	13	2	2	1	0	0	2	1	3	1	2	1	3	3	2	2	3	3	0	3			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr16:89696859G>A	ENST00000393092.3	+	2	332	c.41G>A	c.(40-42)tGc>tAc	p.C14Y	DPEP1_ENST00000421184.1_Missense_Mutation_p.C14Y|DPEP1_ENST00000261615.4_Missense_Mutation_p.C14Y	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	14					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GTGGCCGTCTGCACTGCAGAC	0.632													10	72					0	0	0	0	A	89696859	G	A	89696859	3	1	202	1	0	0	0	0	1	0	0	0	4749	1319	46	4	43	4	DPEP1	16	89696859	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08	17588670	89696859	657894	54	36288											
TP53	7157	broad.mit.edu	37	chr17	7577098	7577098	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctctgtgcgccggtcTctcccaggacaggcacaaac	7	9	9	16	2	3	0	0	0	3	0	6	1	5	1	3	3	2	1	3	3	1	1			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr17:7577098T>G	ENST00000420246.2	-	8	972	c.840A>C	c.(838-840)agA>agC	p.R280S	TP53_ENST00000269305.4_Missense_Mutation_p.R280S|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R280S|TP53_ENST00000445888.2_Missense_Mutation_p.R280S|TP53_ENST00000359597.4_Missense_Mutation_p.R280S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280S(15)|p.0?(8)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCGCCGGTCTCTCCCAGGAC	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	36					0	0	0	0	G	7577098	T	G	7577098	3	3	202	1	0	0	0	0	1	0	0	0	16476	1548	54	5	446	5	TP53	17	7577098	Missense_Mutation	SNP	T	TCGA-CR-7376-01A-11D-2129-08		7577098	73618112	55	36289											
TP53	7157	broad.mit.edu	37	chr17	7579698	7579699	+	Splice_Site	INS	-	-	CC																															cagcccaacccttgtccttaINSccagaacgttgttttcagga																										TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr17:7579698_7579699insCC	ENST00000420246.2	-	3	229		c.e3+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTGTCCTTACCAGAACGTTG	0.594		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	50	---	---	---	---					CC	7579699	-	CC	7579698	8	5	202	1	0	1	1	0	0	0	1	0	16476	405	14	0	1208	0	TP53	17	7579698	Splice_Site	INS	-	TCGA-CR-7376-01A-11D-2129-08	2600	7579698	73615512	56	36290											
MYH2	4620	broad.mit.edu	37	chr17	10427914	10427914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcaggttggctctgcGctccaccatggccagctgtt	5	10	12	14	1	1	0	0	0	1	0	2	0	2	0	3	3	4	7	3	3	0	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr17:10427914G>A	ENST00000245503.5	-	35	5428	c.5044C>T	c.(5044-5046)Cgc>Tgc	p.R1682C	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1682C|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1682					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGGCTCTGCGCTCCACCATG	0.567													6	58					0	0	0	0	A	10427914	G	A	10427914	3	1	202	1	0	0	0	0	1	0	0	0	10105	1087	38	1	805	1	MYH2	17	10427914	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08	2848216	10427914	70767296	57	36291											
COL1A1	1277	broad.mit.edu	37	chr17	48273002	48273002	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggaccttcagagcctcGgggcccttggggaccagctt	5	8	15	13	1	1	1	1	0	0	1	2	3	1	3	4	6	2	1	4	6	0	3	rs72645366		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr17:48273002G>A	ENST00000225964.5	-	17	1199	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	361	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCAGAGCCTCGGGGCCCTTGG	0.637			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta				OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	39					0	0	0	0	A	48273002	G	A	48273002	4	1	202	1	0	0	0	0	0	1	0	0	3707	1124	39	1	3453	1	COL1A1	17	48273002	Nonsense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08	37845088	48273002	32922208	58	36292											
ASXL3	80816	broad.mit.edu	37	chr18	31326305	31326305	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttggtagcacgagtttcAaaagggcagcatctgcaatt	12	11	10	8	1	2	0	1	0	1	0	2	1	2	0	0	2	3	6	0	2	4	4			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr18:31326305A>C	ENST00000269197.5	+	12	6493	c.6493A>C	c.(6493-6495)Aaa>Caa	p.K2165Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACGAGTTTCAAAAGGGCAGC	0.468													10	140					0	0	0	0	C	31326305	A	C	31326305	3	2	202	1	0	0	0	0	1	0	0	0	1072	131	5	5	6539	5	ASXL3	18	31326305	Missense_Mutation	SNP	A	TCGA-CR-7376-01A-11D-2129-08		31326305	46750943	59	36293											
KIAA1328	57536	broad.mit.edu	37	chr18	34539358	34539358	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaggagaagctcaccatgtCtctctcagaacttggtgctg	10	10	10	11	0	3	2	2	0	2	2	5	3	3	2	1	2	3	2	1	2	2	1			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr18:34539358C>G	ENST00000591619.1	+	6	1310	c.524C>G	c.(523-525)tCt>tGt	p.S175C	KIAA1328_ENST00000280020.5_Missense_Mutation_p.S179C|KIAA1328_ENST00000586135.1_Intron|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000543923.1_Missense_Mutation_p.S71C			Q86T90	K1328_HUMAN	KIAA1328	179										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CTCACCATGTCTCTCTCAGAA	0.408													2	16					0	0	0	0	G	34539358	C	G	34539358	3	3	202	1	0	0	0	0	1	0	0	0	8276	913	32	2	558	2	KIAA1328	18	34539358	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	3213053	34539358	43537890	60	36294											
ZNF236	7776	broad.mit.edu	37	chr18	74580734	74580734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggagctggctggaaccCggcagcatgcctgcaaggcc	8	4	15	14	1	0	0	0	0	0	0	0	2	0	2	4	5	5	5	4	5	2	0			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr18:74580734C>T	ENST00000253159.8	+	4	649	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	ZNF236_ENST00000583095.1_3'UTR|ZNF236_ENST00000320610.9_Missense_Mutation_p.R153W	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	151					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGCTGGAACCCGGCAGCATGC	0.522													7	133					0	0	0	0	T	74580734	C	T	74580734	3	4	202	1	0	0	0	0	1	0	0	0	17884	643	23	1	465	1	ZNF236	18	74580734	Missense_Mutation	SNP	C	TCGA-CR-7376-01A-11D-2129-08	40041376	74580734	3496514	61	36295											
HCN2	610	broad.mit.edu	37	chr19	613894	613894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgcacggcgagcgtgcGggctgacacctactgccgcc	5	4	14	18	7	0	1	0	1	0	0	0	2	0	1	5	2	4	2	5	2	1	1			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr19:613894G>A	ENST00000251287.2	+	7	1921	c.1868G>A	c.(1867-1869)cGg>cAg	p.R623Q		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	623					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCGAGCGTGCGGGCTGACACC	0.716													4	34					0	0	0	0	A	613894	G	A	613894	3	1	202	1	0	0	0	0	1	0	0	0	7047	1116	39	1	1894	1	HCN2	19	613894	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08		613894	58515089	62	36296											
ZNF486	90649	broad.mit.edu	37	chr19	20295277	20295277	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttagagaactacagacAcctggtcttccttggtgagg	10	11	12	8	0	1	3	0	1	1	2	2	5	2	3	2	3	2	1	2	3	3	4			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr19:20295277A>C	ENST00000335117.8	+	2	200	c.143A>C	c.(142-144)cAc>cCc	p.H48P	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.H48P	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AACTACAGACACCTGGTCTTC	0.363													11	161					0	0	0	0	C	20295277	A	C	20295277	3	2	202	1	0	0	0	0	1	0	0	0	18034	159	6	5	149	5	ZNF486	19	20295277	Missense_Mutation	SNP	A	TCGA-CR-7376-01A-11D-2129-08	19681383	20295277	38833706	63	36297											
KLK12	43849	broad.mit.edu	37	chr19	51532606	51532606	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtccacatacttgcaaatAtaggtgtagactccagggat	13	10	9	9	0	0	1	0	0	0	1	2	2	2	2	2	2	2	2	2	2	5	5			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr19:51532606A>G	ENST00000250352.11	-	5	1042	c.369T>C	c.(367-369)taT>taC	p.Y123Y	KLK12_ENST00000250351.4_Silent_p.Y233Y|KLK12_ENST00000319590.4_Silent_p.Y233Y|KLK12_ENST00000525263.1_Silent_p.Y233Y|KLK12_ENST00000529888.1_3'UTR			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	233	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACTTGCAAATATAGGTGTAGA	0.587													13	113					0	0	0	0	G	51532606	A	G	51532606	2	3	202	1	0	0	0	0	0	0	0	1	8452	456	16	5		5	KLK12	19	51532606	Silent	SNP	A	TCGA-CR-7376-01A-11D-2129-08	31237329	51532606	7596377	64	36298											
ZNF335	63925	broad.mit.edu	37	chr20	44592204	44592204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggagttgacgtggaagcGcaggtcctcgtgggacagaa	10	7	17	7	3	0	2	0	1	0	1	2	5	1	5	1	4	1	2	1	4	2	1	rs141481390		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr20:44592204G>A	ENST00000322927.2	-	9	1541	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	ZNF335_ENST00000426788.1_Missense_Mutation_p.R326C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACGTGGAAGCGCAGGTCCTCG	0.587													8	154					0	0	0	0	A	44592204	G	A	44592204	3	1	202	1	0	0	0	0	1	0	0	0	17947	1087	38	1	2667	1	ZNF335	20	44592204	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08		44592204	18433316	65	36299											
GLRA2	2742	broad.mit.edu	37	chrX	14550468	14550468	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggacatcaggatatgAtgcaagaatcaggccaaatt	16	7	12	6	0	2	2	2	1	0	1	2	5	2	5	1	4	1	1	1	4	5	2			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chrX:14550468A>G	ENST00000218075.4	+	2	706	c.176A>G	c.(175-177)gAt>gGt	p.D59G	GLRA2_ENST00000443437.2_5'UTR|GLRA2_ENST00000355020.4_Missense_Mutation_p.D59G	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	59					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.D59V(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TCAGGATATGATGCAAGAATC	0.378													10	43					0	0	0	0	G	14550468	A	G	14550468	3	3	202	1	0	0	0	0	1	0	0	0	6506	333	12	5	182	5	GLRA2	23	14550468	Missense_Mutation	SNP	A	TCGA-CR-7376-01A-11D-2129-08		14550468	140720092	66	36300											
RBBP7	5931	broad.mit.edu	37	chrX	16870184	16870184	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttaccttaaatcccacacaTtcaggcggcggtcagtacca	11	9	8	13	2	2	0	2	0	0	0	3	0	3	0	3	3	2	2	3	3	4	4			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chrX:16870184T>G	ENST00000380087.2	-	9	1385	c.1025A>C	c.(1024-1026)aAt>aCt	p.N342T	RBBP7_ENST00000404022.1_Missense_Mutation_p.N333T|RBBP7_ENST00000380084.4_Missense_Mutation_p.N386T			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	342					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					ATCCCACACATTCAGGCGGCG	0.368													17	111					0	0	0	0	G	16870184	T	G	16870184	3	3	202	1	0	0	0	0	1	0	0	0	13186	1493	52	5	268	5	RBBP7	23	16870184	Missense_Mutation	SNP	T	TCGA-CR-7376-01A-11D-2129-08	2319716	16870184	138400376	67	36301											
ELF4	2000	broad.mit.edu	37	chrX	129201444	129201444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtctgcagggtcagggccGagcccgaccccacgggggcc	5	4	16	16	4	2	0	1	0	1	0	3	2	2	0	5	4	2	1	5	4	0	0			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chrX:129201444G>A	ENST00000308167.5	-	9	1623	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	ELF4_ENST00000335997.7_Missense_Mutation_p.S415L	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	415					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GGTCAGGGCCGAGCCCGACCC	0.587			T	ERG	AML								12	46					0	0	0	0	A	129201444	G	A	129201444	3	1	202	1	0	0	0	0	1	0	0	0	5094	1059	37	1	751	1	ELF4	23	129201444	Missense_Mutation	SNP	G	TCGA-CR-7376-01A-11D-2129-08	112331260	129201444	26069116	68	36302											
SPATA21	374955	broad.mit.edu	37	chr1	16727317	16727317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagggaagcttctgcaaccGcagccggcctacggccgctt	7	7	13	14	4	1	0	0	0	1	0	1	1	1	1	4	3	5	5	4	3	4	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:16727317G>A	ENST00000335496.1	-	11	1554	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	SPATA21_ENST00000540400.1_Missense_Mutation_p.R335W|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	358							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TTCTGCAACCGCAGCCGGCCT	0.582													6	264					0	0	0	0	A	16727317	G	A	16727317	3	1	203	1	0	0	0	0	1	0	0	0	15097	1086	38	1	349	1	SPATA21	1	16727317	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08		16727317	232523304	1	36303											
SASS6	163786	broad.mit.edu	37	chr1	100572486	100572486	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacttttcattattttttaGaagttgtttgctttcttcaa	9	22	4	6	0	3	1	2	0	1	1	3	1	3	1	0	0	1	3	0	0	4	10			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:100572486G>A	ENST00000287482.5	-	12	1530	c.1390C>T	c.(1390-1392)Cta>Tta	p.L464L	SASS6_ENST00000535161.1_Silent_p.L297L|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	464					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TTATTTTTTAGAAGTTGTTTG	0.289													3	20					0	0	0	0	A	100572486	G	A	100572486	2	1	203	1	0	0	0	0	0	0	0	1	13936	933	33	2		2	SASS6	1	100572486	Silent	SNP	G	TCGA-CR-7377-01A-11D-2012-08	83845169	100572486	148678135	2	36304											
STXBP3	6814	broad.mit.edu	37	chr1	109340774	109340774	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaattgtattagtctcaacAaggcaaaccgttaagaaagg	16	10	8	7	1	1	1	1	0	1	1	2	1	1	1	1	2	2	3	1	2	8	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:109340774A>C	ENST00000370008.3	+	16	1414	c.1364A>C	c.(1363-1365)cAa>cCa	p.Q455P		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	455					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TAGTCTCAACAAGGCAAACCG	0.313													29	113					0	0	0	0	C	109340774	A	C	109340774	3	2	203	1	0	0	0	0	1	0	0	0	15444	130	5	5	1426	5	STXBP3	1	109340774	Missense_Mutation	SNP	A	TCGA-CR-7377-01A-11D-2012-08	8768288	109340774	139909847	3	36305											
SYT6	148281	broad.mit.edu	37	chr1	114680442	114680442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaaaagccttcaggataCgcacaatcagggtctcggtc	11	8	11	11	2	4	0	3	0	1	0	6	1	4	1	1	4	2	1	1	4	4	2	rs139165674	byFrequency	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:114680442C>T	ENST00000393296.1	-	3	823	c.746G>A	c.(745-747)cGt>cAt	p.R249H	SYT6_ENST00000369547.1_Missense_Mutation_p.R164H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	249	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.R164H(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCAGGATACGCACAATCAG	0.542													32	89					0	0	0	0	T	114680442	C	T	114680442	3	4	203	1	0	0	0	0	1	0	0	0	15569	536	19	1	806	1	SYT6	1	114680442	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	5339668	114680442	134570179	4	36306											
PTGFRN	5738	broad.mit.edu	37	chr1	117492010	117492010	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattccctggtgcacagctcGcctcatgttgctttgagtca	6	13	10	12	1	2	1	2	1	0	0	4	2	3	1	2	1	3	4	2	1	0	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:117492010G>A	ENST00000393203.2	+	4	1176	c.1029G>A	c.(1027-1029)tcG>tcA	p.S343S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	343	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.S343S(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGCACAGCTCGCCTCATGTTG	0.572													11	89					0	0	0	0	A	117492010	G	A	117492010	2	1	203	1	0	0	0	0	0	0	0	1	12830	1074	38	1		1	PTGFRN	1	117492010	Silent	SNP	G	TCGA-CR-7377-01A-11D-2012-08	2811568	117492010	131758611	5	36307											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858559	149858559	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacaaggaggcaaggcccGcgccaaggccaagtcgcgct	12	2	13	14	4	0	0	0	0	0	0	1	1	0	1	3	4	1	2	3	4	5	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:149858559G>C	ENST00000331380.2	+	1	35	c.35G>C	c.(34-36)cGc>cCc	p.R12P		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	12					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGCAAGGCCCGCGCCAAGGCC	0.582													12	128					0	0	0	0	C	149858559	G	C	149858559	3	2	203	1	0	0	0	0	1	0	0	0	7228	1087	38	3	37	3	HIST2H2AC	1	149858559	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	32366549	149858559	99392062	6	36308											
THEM5	284486	broad.mit.edu	37	chr1	151824773	151824773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgggagcttgagtccccGgatgtggtctctgttggact	6	12	15	8	1	1	2	0	1	1	1	3	5	2	5	2	4	1	2	2	4	0	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:151824773G>A	ENST00000368817.5	-	2	417	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	96							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGAGTCCCCGGATGTGGTCT	0.542													19	139					0	0	0	0	A	151824773	G	A	151824773	3	1	203	1	0	0	0	0	1	0	0	0	15953	1115	39	1	477	1	THEM5	1	151824773	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	1966214	151824773	97425848	7	36309											
NTRK1	4914	broad.mit.edu	37	chr1	156843527	156843527	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctctgcgctggctcttcaAtggctccgtgctcaatgaga	6	12	11	12	2	4	1	2	1	2	1	6	2	5	1	1	2	2	4	1	2	2	1			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:156843527A>G	ENST00000368196.3	+	8	1073	c.953A>G	c.(952-954)aAt>aGt	p.N318S	NTRK1_ENST00000392302.2_Missense_Mutation_p.N288S|NTRK1_ENST00000524377.1_Missense_Mutation_p.N318S|NTRK1_ENST00000358660.3_Missense_Mutation_p.N318S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	318	Ig-like C2-type 2.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TGGCTCTTCAATGGCTCCGTG	0.637			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			5	27					0	0	0	0	G	156843527	A	G	156843527	3	3	203	1	0	0	0	0	1	0	0	0	10777	101	4	5	1113	5	NTRK1	1	156843527	Missense_Mutation	SNP	A	TCGA-CR-7377-01A-11D-2012-08	5018754	156843527	92407094	8	36310											
RNASEL	6041	broad.mit.edu	37	chr1	182554927	182554927	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccccccagtgtgagctctGaggcttccagtcttcagcag	6	10	11	14	0	3	2	1	2	2	0	4	2	4	2	4	1	3	3	4	1	0	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:182554927G>A	ENST00000367559.3	-	2	1268	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*	RNASEL_ENST00000444138.1_Nonsense_Mutation_p.Q339*|RNASEL_ENST00000539397.1_Nonsense_Mutation_p.Q339*	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	339					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TGTGAGCTCTGAGGCTTCCAG	0.463													11	84					0	0	0	0	A	182554927	G	A	182554927	4	1	203	1	0	0	0	0	0	1	0	0	13501	1299	45	2	1234	2	RNASEL	1	182554927	Nonsense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	25711400	182554927	66695694	9	36311											
DHX9	1660	broad.mit.edu	37	chr1	182812531	182812531	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttaactatttggttcgaAtaaatgaaataaagagtgaa	17	14	8	2	1	0	3	0	2	0	1	1	4	0	3	0	1	1	2	0	1	9	7			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:182812531A>G	ENST00000367549.3	+	3	324	c.214A>G	c.(214-216)Ata>Gta	p.I72V		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	72	Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TTTGGTTCGAATAAATGAAAT	0.378													7	74					0	0	0	0	G	182812531	A	G	182812531	3	3	203	1	0	0	0	0	1	0	0	0	4553	101	4	5	220	5	DHX9	1	182812531	Missense_Mutation	SNP	A	TCGA-CR-7377-01A-11D-2012-08	257604	182812531	66438090	10	36312											
HMCN1	83872	broad.mit.edu	37	chr1	186136045	186136045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgttgtggaagtggctttcGaagaacctctgatgggctga	8	11	14	8	2	1	3	0	2	1	1	2	5	1	4	2	3	1	3	2	3	3	2	rs148826584	by1000genomes	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:186136045G>A	ENST00000271588.4	+	100	15774	c.15545G>A	c.(15544-15546)cGa>cAa	p.R5182Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5182Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5182	EGF-like 2; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTGGCTTTCGAAGAACCTCT	0.458													10	68					0	0	0	0	A	186136045	G	A	186136045	3	1	203	1	0	0	0	0	1	0	0	0	7270	1058	37	1	15943	1	HMCN1	1	186136045	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	3323514	186136045	63114576	11	36313											
BTG2	7832	broad.mit.edu	37	chr1	203276431	203276431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggtgtcctaccgcattggGgaggacggctccatctgcgt	6	9	15	11	3	1	0	0	0	1	0	3	3	3	2	3	5	2	2	3	5	1	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:203276431G>A	ENST00000290551.4	+	2	413	c.342G>A	c.(340-342)ggG>ggA	p.G114G		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	114					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			ACCGCATTGGGGAGGACGGCT	0.667													15	81					0	0	0	0	A	203276431	G	A	203276431	2	1	203	1	0	0	0	0	0	0	0	1	1563	1219	43	4		4	BTG2	1	203276431	Silent	SNP	G	TCGA-CR-7377-01A-11D-2012-08	17140386	203276431	45974190	12	36314											
CD34	947	broad.mit.edu	37	chr1	208061164	208061164	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccggtcccgttttcctgAgcccctcggttcacactggc	3	11	11	16	3	1	1	1	1	0	0	4	1	3	1	5	4	1	2	5	4	0	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:208061164A>T	ENST00000310833.7	-	8	1398	c.1077T>A	c.(1075-1077)gcT>gcA	p.A359A	CD34_ENST00000356522.4_3'UTR|CD34_ENST00000367036.3_Silent_p.A201A|CD34_ENST00000485761.1_Intron|CD34_ENST00000537704.1_Silent_p.A224A	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	359					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CGTTTTCCTGAGCCCCTCGGT	0.592													5	53					0	0	0	0	T	208061164	A	T	208061164	2	4	203	1	0	0	0	0	0	0	0	1	3035	291	11	5		5	CD34	1	208061164	Silent	SNP	A	TCGA-CR-7377-01A-11D-2012-08	4784733	208061164	41189457	13	36315											
TTC13	79573	broad.mit.edu	37	chr1	231060684	231060684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtccatgtacgctgcaCggcttgcatgacctccaatg	7	11	11	12	2	0	1	0	1	0	0	2	1	2	1	3	2	3	6	3	2	2	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:231060684C>T	ENST00000366661.4	-	14	1631	c.1624G>A	c.(1624-1626)Gtg>Atg	p.V542M	TTC13_ENST00000366662.4_Missense_Mutation_p.V489M|TTC13_ENST00000414259.1_Missense_Mutation_p.V489M	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	542							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GTACGCTGCACGGCTTGCATG	0.463													24	101					0	0	0	0	T	231060684	C	T	231060684	3	4	203	1	0	0	0	0	1	0	0	0	16776	536	19	1	998	1	TTC13	1	231060684	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	22999520	231060684	18189937	14	36316											
OR2T2	401992	broad.mit.edu	37	chr1	248616314	248616314	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctctccatcatggatacCatctacatctgtatcactgt	10	13	5	13	0	5	0	2	0	3	0	6	1	5	1	2	1	3	2	2	1	3	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:248616314C>A	ENST00000342927.3	+	1	238	c.216C>A	c.(214-216)acC>acA	p.T72T		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATGGATACCATCTACATCT	0.512													16	189					3.51602e-12	4.364e-12	1	0	A	248616314	C	A	248616314	2	1	203	1	0	0	0	0	0	0	0	1	11091	581	21	4		4	OR2T2	1	248616314	Silent	SNP	C	TCGA-CR-7377-01A-11D-2012-08	17555630	248616314	634307	15	36317											
OR2T2	401992	broad.mit.edu	37	chr1	248616457	248616457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctgctgggtctcatggCctatgaccgctatgtggctg	4	13	12	12	1	1	1	1	1	1	0	3	1	2	1	3	3	1	3	3	3	2	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr1:248616457C>A	ENST00000342927.3	+	1	381	c.359C>A	c.(358-360)gCc>gAc	p.A120D		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTCTCATGGCCTATGACCGC	0.547													12	130					5.01169e-05	5.97439e-05	1	0	A	248616457	C	A	248616457	3	1	203	1	0	0	0	0	1	0	0	0	11091	739	26	4	361	4	OR2T2	1	248616457	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	143	248616457	634164	16	36318											
DTNB	1838	broad.mit.edu	37	chr2	25754408	25754408	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatgcgggggttctctcGtgggtacacaccccaaagat	9	8	13	11	2	1	1	0	0	1	1	3	2	1	2	2	4	2	2	2	4	2	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:25754408G>C	ENST00000406818.3	-	9	1184	c.935C>G	c.(934-936)aCg>aGg	p.T312R	DTNB_ENST00000288642.8_Missense_Mutation_p.T312R|DTNB_ENST00000407661.3_Missense_Mutation_p.T312R|DTNB_ENST00000407038.3_Missense_Mutation_p.T312R|DTNB_ENST00000407186.1_Missense_Mutation_p.T312R|DTNB_ENST00000405222.1_Missense_Mutation_p.T312R|DTNB_ENST00000545439.1_Missense_Mutation_p.T108R|DTNB_ENST00000496972.2_Missense_Mutation_p.T255R|DTNB_ENST00000404103.3_Missense_Mutation_p.T312R	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	312						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTTCTCTCGTGGGTACACA	0.438													16	104					0	0	0	0	C	25754408	G	C	25754408	3	2	203	1	0	0	0	0	1	0	0	0	4825	1145	40	3	996	3	DTNB	2	25754408	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08		25754408	217444965	17	36319											
SOS1	6654	broad.mit.edu	37	chr2	39251221	39251221	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaacattaagcaaagctgTtattgcttgttttaaacatt	13	16	6	6	0	0	1	0	1	0	0	0	1	0	1	0	0	5	5	0	0	6	7			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:39251221T>A	ENST00000426016.1	-	10	1218	c.1132A>T	c.(1132-1134)Aca>Tca	p.T378S	SOS1_ENST00000428721.2_3'UTR|SOS1_ENST00000402219.2_Missense_Mutation_p.T378S|SOS1_ENST00000395038.2_Missense_Mutation_p.T378S			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	378	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AGCAAAGCTGTTATTGCTTGT	0.303									Noonan syndrome				4	49					0	0	0	0	A	39251221	T	A	39251221	3	1	203	1	0	0	0	0	1	0	0	0	15024	1725	60	5	2929	5	SOS1	2	39251221	Missense_Mutation	SNP	T	TCGA-CR-7377-01A-11D-2012-08	13496813	39251221	203948152	18	36320											
SLC8A1	6546	broad.mit.edu	37	chr2	40397431	40397431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatgagtacctgcaatggtGattacagtagagagaatcgg	15	9	12	5	1	0	4	0	2	0	2	1	5	0	4	1	2	3	3	1	2	6	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:40397431G>A	ENST00000542756.1	-	6	2036	c.2013C>T	c.(2011-2013)atC>atT	p.I671I	SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405901.3_Silent_p.I671I|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000403092.1_Silent_p.I676I|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000332839.4_Silent_p.I676I|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.I668I|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	676					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	CTGCAATGGTGATTACAGTAG	0.433													8	56					0	0	0	0	A	40397431	G	A	40397431	2	1	203	1	0	0	0	0	0	0	0	1	14794	1280	45	2		2	SLC8A1	2	40397431	Silent	SNP	G	TCGA-CR-7377-01A-11D-2012-08	1146210	40397431	202801942	19	36321											
RGPD4	285190	broad.mit.edu	37	chr2	108487680	108487680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatttagatttgatgctgagGtaaggcagtggaaagaaagg	14	11	14	2	0	0	4	0	2	0	2	0	5	0	5	0	4	1	3	0	4	5	5	rs2919157		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:108487680G>A	ENST00000408999.3	+	20	3297	c.3220G>A	c.(3220-3222)Gta>Ata	p.V1074I	RGPD4_ENST00000354986.4_Missense_Mutation_p.V1074I	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1074	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGATGCTGAGGTAAGGCAGTG	0.383													71	513					0	0	0	0	A	108487680	G	A	108487680	3	1	203	1	0	0	0	0	1	0	0	0	13370	1261	44	4	3298	4	RGPD4	2	108487680	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	68090249	108487680	134711693	20	36322											
SULT1C2	6819	broad.mit.edu	37	chr2	108924864	108924864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagaatgagaggtttgatGaaatctatagaagaaagatg	17	9	11	4	0	1	7	0	3	1	5	1	8	1	7	1	1	0	1	1	1	6	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:108924864G>A	ENST00000326853.5	+	9	1321	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	SULT1C2_ENST00000437390.2_Missense_Mutation_p.E293K|SULT1C2_ENST00000409880.1_Missense_Mutation_p.E242K|SULT1C2_ENST00000251481.6_Missense_Mutation_p.E279K	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	279					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GAGGTTTGATGAAATCTATAG	0.413													9	86					0	0	0	0	A	108924864	G	A	108924864	3	1	203	1	0	0	0	0	1	0	0	0	15467	1291	45	2	960	2	SULT1C2	2	108924864	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	437184	108924864	134274509	21	36323											
ERCC3	2071	broad.mit.edu	37	chr2	128029027	128029027	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatcaaacgaagtgtcaccTacctacagaaacaagttgga	17	7	8	9	1	2	2	2	0	0	2	2	4	2	3	2	1	4	1	2	1	6	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:128029027T>A	ENST00000493187.2	-	12	2101	c.1638A>T	c.(1636-1638)gtA>gtT	p.V546V	ERCC3_ENST00000285398.2_Silent_p.V610V			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	610	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AAGTGTCACCTACCTACAGAA	0.413			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	118					0	0	0	0	A	128029027	T	A	128029027	2	1	203	1	0	0	0	0	0	0	0	1	5252	1509	53	5		5	ERCC3	2	128029027	Silent	SNP	T	TCGA-CR-7377-01A-11D-2012-08	19104163	128029027	115170346	22	36324											
SPHKAP	80309	broad.mit.edu	37	chr2	228882145	228882145	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagcagtaactcaaatcctCtcccttcattttccatctgg	9	13	4	15	0	4	0	2	0	2	0	7	0	6	0	4	1	2	2	4	1	2	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:228882145C>G	ENST00000392056.3	-	7	3471	c.3425G>C	c.(3424-3426)aGa>aCa	p.R1142T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1142T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1142						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCAAATCCTCTCCCTTCATT	0.527													9	46					0	0	0	0	G	228882145	C	G	228882145	3	3	203	1	0	0	0	0	1	0	0	0	15138	913	32	2	1701	2	SPHKAP	2	228882145	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	100853118	228882145	14317228	23	36325											
GIGYF2	26058	broad.mit.edu	37	chr2	233675989	233675989	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttttggcccaacagcagaAagcagcactgtcttcccagc	10	8	10	13	0	1	1	0	0	1	1	2	1	2	1	2	2	5	4	2	2	2	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:233675989A>C	ENST00000373566.3	+	18	2197	c.2000A>C	c.(1999-2001)aAa>aCa	p.K667T	GIGYF2_ENST00000409451.3_Missense_Mutation_p.K666T|GIGYF2_ENST00000373563.4_Missense_Mutation_p.K645T|GIGYF2_ENST00000409480.1_Missense_Mutation_p.K667T|GIGYF2_ENST00000409547.1_Missense_Mutation_p.K645T|GIGYF2_ENST00000409196.3_Missense_Mutation_p.K639T|GIGYF2_ENST00000452341.2_Missense_Mutation_p.K476T			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	645	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CAACAGCAGAAAGCAGCACTG	0.423													7	60					0	0	0	0	C	233675989	A	C	233675989	3	2	203	1	0	0	0	0	1	0	0	0	6429	14	1	5	2062	5	GIGYF2	2	233675989	Missense_Mutation	SNP	A	TCGA-CR-7377-01A-11D-2012-08	4793844	233675989	9523384	24	36326											
ESPNL	339768	broad.mit.edu	37	chr2	239040108	239040108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgccgggcctggaccgacgGcttcgaggacatcaaagccc	8	4	13	16	5	1	0	1	0	0	0	2	4	1	2	5	4	1	1	5	4	1	1			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr2:239040108G>A	ENST00000343063.3	+	9	3016	c.2753G>A	c.(2752-2754)gGc>gAc	p.G918D	ESPNL_ENST00000409169.1_Missense_Mutation_p.G874D|ESPNL_ENST00000409506.1_Missense_Mutation_p.G550D|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	918										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGACCGACGGCTTCGAGGAC	0.706													3	35					0	0	0	0	A	239040108	G	A	239040108	3	1	203	1	0	0	0	0	1	0	0	0	5293	1203	42	4	2787	4	ESPNL	2	239040108	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	5364119	239040108	4159265	25	36327											
LRRN1	57633	broad.mit.edu	37	chr3	3887531	3887531	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgttctgtgccatgccGcccgaatataaagggcacca	10	9	9	13	2	1	0	0	0	1	0	2	1	2	0	5	1	2	2	5	1	4	3	rs147557425	by1000genomes	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:3887531G>C	ENST00000319331.3	+	2	1967	c.1206G>C	c.(1204-1206)ccG>ccC	p.P402P	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	402	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GTGCCATGCCGCCCGAATATA	0.483													26	79					0	0	0	0	C	3887531	G	C	3887531	2	2	203	1	0	0	0	0	0	0	0	1	9098	1074	38	3		3	LRRN1	3	3887531	Silent	SNP	G	TCGA-CR-7377-01A-11D-2012-08		3887531	194134899	26	36328											
SLC6A11	6538	broad.mit.edu	37	chr3	10974928	10974928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttgagtgcatctgcatcgGctgggtgtatggtgagtagc	6	13	15	7	1	1	2	0	2	1	0	2	2	1	2	0	3	3	5	0	3	2	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:10974928G>A	ENST00000254488.2	+	11	1529	c.1463G>A	c.(1462-1464)gGc>gAc	p.G488D		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	488					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ATCTGCATCGGCTGGGTGTAT	0.582													4	171					0	0	0	0	A	10974928	G	A	10974928	3	1	203	1	0	0	0	0	1	0	0	0	14762	1203	42	4	1505	4	SLC6A11	3	10974928	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	7087397	10974928	187047502	27	36329											
MITF	4286	broad.mit.edu	37	chr3	70008500	70008500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgcaacgagaacagcaaCgcgcaaaagaacttgaaaac	19	4	9	9	3	0	3	0	1	0	2	0	4	0	3	0	0	7	4	0	0	8	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:70008500C>T	ENST00000352241.4	+	9	1253	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	MITF_ENST00000314557.6_Missense_Mutation_p.R257C|MITF_ENST00000472437.1_Missense_Mutation_p.R312C|MITF_ENST00000314589.5_Missense_Mutation_p.R348C|MITF_ENST00000328528.6_Missense_Mutation_p.R363C|MITF_ENST00000394355.2_Missense_Mutation_p.R339C|MITF_ENST00000448226.2_Missense_Mutation_p.R370C|MITF_ENST00000394351.3_Missense_Mutation_p.R263C|MITF_ENST00000531774.1_Missense_Mutation_p.R201C	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	370	Helix-loop-helix motif.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AGAACAGCAACGCGCAAAAGA	0.463			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						8	35					0	0	0	0	T	70008500	C	T	70008500	3	4	203	1	0	0	0	0	1	0	0	0	9665	536	19	1	1363	1	MITF	3	70008500	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	59033572	70008500	128013930	28	36330											
OR5H14	403273	broad.mit.edu	37	chr3	97868271	97868271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctgacagagtttgttctCacaggatttttatatcaacc	10	16	7	8	0	2	2	2	1	1	1	3	3	2	3	1	1	2	3	1	1	3	7			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:97868271C>T	ENST00000437310.1	+	1	102	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTTTGTTCTCACAGGATTTT	0.403													18	167					0	0	0	0	T	97868271	C	T	97868271	2	4	203	1	0	0	0	0	0	0	0	1	11231	813	29	2		2	OR5H14	3	97868271	Silent	SNP	C	TCGA-CR-7377-01A-11D-2012-08	27859771	97868271	100154159	29	36331											
ABI3BP	25890	broad.mit.edu	37	chr3	100469363	100469363	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cattttccaggaattgtagtCccacattcataccactgaac	12	12	5	12	0	1	1	1	1	0	0	3	2	3	2	3	1	2	1	3	1	4	6			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:100469363C>T	ENST00000471714.1	-	67	5419	c.5310G>A	c.(5308-5310)ggG>ggA	p.G1770G	ABI3BP_ENST00000383691.4_Silent_p.G1022G|ABI3BP_ENST00000284322.5_Silent_p.G1068G			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	1068						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GAATTGTAGTCCCACATTCAT	0.388													9	130					0	0	0	0	T	100469363	C	T	100469363	2	4	203	1	0	0	0	0	0	0	0	1	91	842	30	2		2	ABI3BP	3	100469363	Silent	SNP	C	TCGA-CR-7377-01A-11D-2012-08	2601092	100469363	97553067	30	36332											
MORC1	27136	broad.mit.edu	37	chr3	108746688	108746688	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttttgatggtgatattgtGctcatggtgcccagtgggat	6	17	13	5	0	1	2	1	2	0	0	1	3	1	3	1	3	2	1	1	3	1	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:108746688G>A	ENST00000232603.5	-	17	1696	c.1614C>T	c.(1612-1614)agC>agT	p.S538S	MORC1_ENST00000483760.1_Silent_p.S538S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	538					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTGATATTGTGCTCATGGTGC	0.398													17	79					0	0	0	0	A	108746688	G	A	108746688	2	1	203	1	0	0	0	0	0	0	0	1	9771	1310	46	4		4	MORC1	3	108746688	Silent	SNP	G	TCGA-CR-7377-01A-11D-2012-08	8277325	108746688	89275742	31	36333											
DPPA2	151871	broad.mit.edu	37	chr3	109023367	109023367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tattatcttctatgcctgggGatgggaaaatgcaggcaggt	10	12	13	6	0	2	0	0	0	2	0	2	2	2	2	1	5	2	2	1	5	5	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:109023367G>T	ENST00000478945.1	-	7	1055	c.809C>A	c.(808-810)tCc>tAc	p.S270Y		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	270						nucleus	nucleic acid binding	p.S270F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TATGCCTGGGGATGGGAAAAT	0.478													17	53					9.16793e-09	1.11817e-08	1	0	T	109023367	G	T	109023367	3	4	203	1	0	0	0	0	1	0	0	0	4770	1174	41	2	95	2	DPPA2	3	109023367	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	276679	109023367	88999063	32	36334											
DPPA4	55211	broad.mit.edu	37	chr3	109047778	109047778	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatattgtcttcaaggtgCgggggtggaaaattggaggc	11	10	15	5	1	2	0	1	0	1	0	2	2	2	2	0	6	2	0	0	6	5	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:109047778C>T	ENST00000335658.6	-	6	891	c.837G>A	c.(835-837)ccG>ccA	p.P279P		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	279						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CTTCAAGGTGCGGGGGTGGAA	0.463													12	40					0	0	0	0	T	109047778	C	T	109047778	2	4	203	1	0	0	0	0	0	0	0	1	4772	755	27	1		1	DPPA4	3	109047778	Silent	SNP	C	TCGA-CR-7377-01A-11D-2012-08	24411	109047778	88974652	33	36335											
GOLGB1	2804	broad.mit.edu	37	chr3	121414052	121414052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctaggttagcttgtttaGatacattaccttctatctga	9	17	6	9	0	3	2	0	1	3	1	3	2	3	2	2	1	3	3	2	1	6	9			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:121414052G>C	ENST00000393667.3	-	13	5428	c.5318C>G	c.(5317-5319)tCt>tGt	p.S1773C	GOLGB1_ENST00000340645.5_Missense_Mutation_p.S1768C	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1768					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGCTTGTTTAGATACATTACC	0.393													20	226					0	0	0	0	C	121414052	G	C	121414052	3	2	203	1	0	0	0	0	1	0	0	0	6613	942	33	2	4516	2	GOLGB1	3	121414052	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	12366274	121414052	76608378	34	36336											
PLCH1	23007	broad.mit.edu	37	chr3	155314050	155314050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcactcttcctagagggtCgccatcggaggcgtgtccgg	5	10	13	13	4	2	1	1	0	2	1	7	2	4	2	3	4	0	0	3	4	1	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:155314050C>T	ENST00000460012.1	-	3	464	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	PLCH1_ENST00000494598.1_Missense_Mutation_p.R54Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.R54Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R36Q|PLCH1_ENST00000447496.2_Missense_Mutation_p.R54Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.R36Q			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	54	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTAGAGGGTCGCCATCGGAG	0.498													55	195					0	0	0	0	T	155314050	C	T	155314050	3	4	203	1	0	0	0	0	1	0	0	0	12109	884	31	1	5023	1	PLCH1	3	155314050	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	33899998	155314050	42708380	35	36337											
SI	6476	broad.mit.edu	37	chr3	164760860	164760860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttacttcatatccgtcaGaattatggtttctggaaaat	11	16	6	8	1	4	1	2	0	2	1	5	2	5	2	1	2	1	1	1	2	6	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr3:164760860G>A	ENST00000264382.3	-	17	2053	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	664	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATATCCGTCAGAATTATGGTT	0.358										HNSCC(35;0.089)			14	73					0	0	0	0	A	164760860	G	A	164760860	3	1	203	1	0	0	0	0	1	0	0	0	14385	942	33	2	3620	2	SI	3	164760860	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	9446810	164760860	33261570	36	36338											
CCDC149	91050	broad.mit.edu	37	chr4	24854761	24854761	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcttctcccagatgtttaTttcggtcctgagaatctctc	6	18	6	11	1	3	2	0	1	3	2	8	3	4	2	2	1	0	1	2	1	2	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr4:24854761T>C	ENST00000504487.1	-	4	311	c.305A>G	c.(304-306)aAt>aGt	p.N102S	CCDC149_ENST00000502801.1_Missense_Mutation_p.N102S|CCDC149_ENST00000428116.2_Missense_Mutation_p.N47S|CCDC149_ENST00000389609.4_Missense_Mutation_p.N102S	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149	102										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CAGATGTTTATTTCGGTCCTG	0.413													16	83					0	0	0	0	C	24854761	T	C	24854761	3	2	203	1	0	0	0	0	1	0	0	0	2808	1493	52	5	1324	5	CCDC149	4	24854761	Missense_Mutation	SNP	T	TCGA-CR-7377-01A-11D-2012-08		24854761	166299515	37	36339											
ZNF827	152485	broad.mit.edu	37	chr4	146807157	146807157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggggagatcccttgaCatctgggtctgggatctcct	6	11	15	9	0	3	2	0	1	3	1	5	5	4	3	2	5	0	0	2	5	0	1			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr4:146807157C>T	ENST00000508784.1	-	4	1647	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	ZNF827_ENST00000379448.4_Missense_Mutation_p.V474I|ZNF827_ENST00000513320.1_Missense_Mutation_p.V124I			Q17R98	ZN827_HUMAN	zinc finger protein 827	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GATCCCTTGACATCTGGGTCT	0.567													9	65					0	0	0	0	T	146807157	C	T	146807157	3	4	203	1	0	0	0	0	1	0	0	0	18273	478	17	4	1853	4	ZNF827	4	146807157	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	121952396	146807157	44347119	38	36340											
FSTL5	56884	broad.mit.edu	37	chr4	162306902	162306902	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgtatcgtagggtttttaGgcatctccaacccaaatgac	11	13	8	9	1	1	1	0	1	1	0	3	1	1	1	2	2	1	4	2	2	5	6			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr4:162306902G>A	ENST00000306100.5	-	16	2977	c.2541C>T	c.(2539-2541)gcC>gcT	p.A847A	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Silent_p.A837A|FSTL5_ENST00000379164.4_Silent_p.A846A|FSTL5_ENST00000536695.1_Silent_p.A846A	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	847						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGGGTTTTTAGGCATCTCCAA	0.338													10	81					0	0	0	0	A	162306902	G	A	162306902	2	1	203	1	0	0	0	0	0	0	0	1	6128	987	35	4		4	FSTL5	4	162306902	Silent	SNP	G	TCGA-CR-7377-01A-11D-2012-08	15499745	162306902	28847374	39	36341											
ACSL1	2180	broad.mit.edu	37	chr4	185681655	185681655	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataattttcaaggtgccattCtgttgatcagaggggagggg	10	12	14	5	0	3	2	2	1	1	1	3	3	3	3	1	5	1	1	1	5	2	5	rs111329654		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr4:185681655C>T	ENST00000515030.1	-	18	1964		c.e18-1		ACSL1_ENST00000454703.2_Splice_Site|ACSL1_ENST00000437665.3_Splice_Site|ACSL1_ENST00000281455.2_Splice_Site|ACSL1_ENST00000513317.1_Splice_Site|ACSL1_ENST00000507295.1_Splice_Site|ACSL1_ENST00000504342.1_Splice_Site			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1						digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGTGCCATTCTGTTGATCAG	0.423													44	337					0	0	0	0	T	185681655	C	T	185681655	5	4	203	1	0	0	0	0	0	0	1	0	177	927	32	2	474	2	ACSL1	4	185681655	Splice_Site	SNP	C	TCGA-CR-7377-01A-11D-2012-08	23374753	185681655	5472621	40	36342											
DHX29	54505	broad.mit.edu	37	chr5	54565331	54565331	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaaggtgttggcccaaCggagtcagtttaggctcatt	8	11	13	9	1	2	0	2	0	0	0	2	1	2	1	1	4	2	5	1	4	3	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr5:54565331C>T	ENST00000251636.5	-	21	3352	c.3204G>A	c.(3202-3204)ccG>ccA	p.P1068P	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1068							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GTTGGCCCAACGGAGTCAGTT	0.443													7	32					0	0	0	0	T	54565331	C	T	54565331	2	4	203	1	0	0	0	0	0	0	0	1	4540	523	19	1		1	DHX29	5	54565331	Silent	SNP	C	TCGA-CR-7377-01A-11D-2012-08		54565331	126349929	41	36343											
IPO11	51194	broad.mit.edu	37	chr5	61779883	61779883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataagattaagatggcattCttcacatatcctactttgac	13	14	5	9	0	2	3	1	1	1	2	3	3	3	3	1	1	1	1	1	1	4	7			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr5:61779883C>G	ENST00000325324.6	+	11	1237	c.1068C>G	c.(1066-1068)ttC>ttG	p.F356L	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.F396L	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	356						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AGATGGCATTCTTCACATATC	0.353													9	62					0	0	0	0	G	61779883	C	G	61779883	3	3	203	1	0	0	0	0	1	0	0	0	7846	912	32	2	1230	2	IPO11	5	61779883	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	7214552	61779883	119135377	42	36344											
PCDHB14	56122	broad.mit.edu	37	chr5	140603276	140603276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacgtgaagcccgggtaGtgtctgatgataataaaaag	13	10	11	7	2	2	3	1	3	1	0	2	3	2	3	1	1	1	1	1	1	6	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr5:140603276G>A	ENST00000239449.4	+	1	199	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		67	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCGGGTAGTGTCTGATGA	0.493													14	106					0	0	0	0	A	140603276	G	A	140603276	3	1	203	1	0	0	0	0	1	0	0	0	11610	1029	36	4	201	4	PCDHB14	5	140603276	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	78823393	140603276	40311984	43	36345											
POU4F3	5459	broad.mit.edu	37	chr5	145719962	145719962	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgagagtctggttctgcaaCcagagacagaaacagaaacg	15	6	12	8	1	2	4	0	1	2	4	2	6	2	4	1	1	4	2	1	1	3	1			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr5:145719962C>T	ENST00000230732.4	+	2	1061	c.972C>T	c.(970-972)aaC>aaT	p.N324N	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	324					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTTCTGCAACCAGAGACAGA	0.552													7	74					0	0	0	0	T	145719962	C	T	145719962	2	4	203	1	0	0	0	0	0	0	0	1	12351	506	18	4		4	POU4F3	5	145719962	Silent	SNP	C	TCGA-CR-7377-01A-11D-2012-08	5116686	145719962	35195298	44	36346											
KIAA0319	9856	broad.mit.edu	37	chr6	24564520	24564520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtacaccccctccaccaGattcgtaagctgcagagcca	11	7	8	15	1	0	2	0	0	0	2	2	2	1	2	5	0	4	4	5	0	2	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:24564520G>C	ENST00000535378.1	-	16	2956	c.2314C>G	c.(2314-2316)Ctg>Gtg	p.L772V	KIAA0319_ENST00000543707.1_Missense_Mutation_p.L781V|KIAA0319_ENST00000430948.2_Missense_Mutation_p.L736V|KIAA0319_ENST00000537886.1_Missense_Mutation_p.L781V|KIAA0319_ENST00000378214.3_Missense_Mutation_p.L781V	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	781	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCCTCCACCAGATTCGTAAGC	0.567													14	86					0	0	0	0	C	24564520	G	C	24564520	3	2	203	1	0	0	0	0	1	0	0	0	8219	933	33	2	905	2	KIAA0319	6	24564520	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08		24564520	146550547	45	36347											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184294	26184294	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacaagcgctcgaccatcAcctccagggagatccagacg	13	4	9	15	3	1	2	1	0	0	2	4	4	3	2	4	1	2	1	4	1	2	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:26184294A>G	ENST00000356530.3	+	1	337	c.271A>G	c.(271-273)Acc>Gcc	p.T91A		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	91					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						CTCGACCATCACCTCCAGGGA	0.607													11	134					0	0	0	0	G	26184294	A	G	26184294	3	3	203	1	0	0	0	0	1	0	0	0	7194	159	6	5	273	5	HIST1H2BE	6	26184294	Missense_Mutation	SNP	A	TCGA-CR-7377-01A-11D-2012-08	1619774	26184294	144930773	46	36348											
TRIM15	89870	broad.mit.edu	37	chr6	30140093	30140093	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttccctttctttgccgtctgGaaaaaaggttcctgccttac	7	15	7	12	1	2	0	0	0	2	0	4	1	4	1	4	2	3	1	4	2	4	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:30140093G>A	ENST00000376694.4	+	7	1834	c.1365G>A	c.(1363-1365)tgG>tgA	p.W455*	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	455	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TTGCCGTCTGGAAAAAAGGTT	0.637													10	54					0	0	0	0	A	30140093	G	A	30140093	4	1	203	1	0	0	0	0	0	1	0	0	16585	1183	41	2	1391	2	TRIM15	6	30140093	Nonsense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	3955799	30140093	140974974	47	36349											
GLO1	2739	broad.mit.edu	37	chr6	38649810	38649810	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatcaggtttcttcacaaaTttgactcccagttcttcaaa	11	15	4	11	0	6	1	4	1	2	0	7	1	7	1	1	1	0	2	1	1	2	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:38649810T>C	ENST00000373365.4	-	5	530	c.444A>G	c.(442-444)aaA>aaG	p.K148K	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	148					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	TCTTCACAAATTTGACTCCCA	0.413													10	75					0	0	0	0	C	38649810	T	C	38649810	2	2	203	1	0	0	0	0	0	0	0	1	6500	1490	52	5		5	GLO1	6	38649810	Silent	SNP	T	TCGA-CR-7377-01A-11D-2012-08	8509717	38649810	132465257	48	36350											
ZNF318	24149	broad.mit.edu	37	chr6	43322834	43322834	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtctaattggggcagaTggggctgatggcaacatgca	11	8	16	6	0	1	2	0	1	1	1	1	3	1	3	0	6	2	4	0	6	3	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:43322834T>C	ENST00000361428.2	-	4	2315	c.2238A>G	c.(2236-2238)ccA>ccG	p.P746P	ZNF318_ENST00000318149.3_Silent_p.P746P	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	746					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTGGGGCAGATGGGGCTGATG	0.512													17	81					0	0	0	0	C	43322834	T	C	43322834	2	2	203	1	0	0	0	0	0	0	0	1	17931	1451	51	5		5	ZNF318	6	43322834	Silent	SNP	T	TCGA-CR-7377-01A-11D-2012-08	4673024	43322834	127792233	49	36351											
CRISP3	10321	broad.mit.edu	37	chr6	49704206	49704206	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgggtggttaacaaagcAgtaaaagcgggatcctaagg	13	9	14	5	1	0	0	0	0	0	0	1	1	1	1	1	4	3	4	1	4	5	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:49704206A>G	ENST00000433368.2	-	3	225	c.156T>C	c.(154-156)acT>acC	p.T52T	CRISP3_ENST00000393666.1_Silent_p.T29T|CRISP3_ENST00000371159.4_Silent_p.T60T|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000263045.4_Silent_p.T42T	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	29					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTAACAAAGCAGTAAAAGCGG	0.378													23	190					0	0	0	0	G	49704206	A	G	49704206	2	3	203	1	0	0	0	0	0	0	0	1	3911	175	7	5		5	CRISP3	6	49704206	Silent	SNP	A	TCGA-CR-7377-01A-11D-2012-08	6381372	49704206	121410861	50	36352											
COL21A1	81578	broad.mit.edu	37	chr6	55925556	55925556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctcttattacatctgtgCaaacttgtcgaataaattgt	12	16	5	8	1	2	0	0	0	2	0	3	1	2	0	1	0	4	1	1	0	7	6			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:55925556C>T	ENST00000244728.5	-	27	2787	c.2390G>A	c.(2389-2391)tGc>tAc	p.C797Y	COL21A1_ENST00000370808.2_Missense_Mutation_p.C197Y|COL21A1_ENST00000535941.1_Missense_Mutation_p.C797Y|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.C794Y	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	797					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACATCTGTGCAAACTTGTCG	0.299													7	66					0	0	0	0	T	55925556	C	T	55925556	3	4	203	1	0	0	0	0	1	0	0	0	3710	710	25	4	499	4	COL21A1	6	55925556	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	6221350	55925556	115189511	51	36353											
FAM135A	57579	broad.mit.edu	37	chr6	71232224	71232224	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattttttaggtacgcagAttttctgaggcattcttttg	8	18	10	5	1	2	2	0	1	2	1	2	3	2	3	0	3	1	3	0	3	3	9			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:71232224A>G	ENST00000418814.2	+	13	1652	c.1038A>G	c.(1036-1038)agA>agG	p.R346R	FAM135A_ENST00000505868.1_Silent_p.R346R|FAM135A_ENST00000370479.3_Silent_p.R329R|FAM135A_ENST00000361499.3_Silent_p.R346R|FAM135A_ENST00000505769.1_Silent_p.R346R|FAM135A_ENST00000457062.2_Silent_p.R329R	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	346										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AGGTACGCAGATTTTCTGAGG	0.348													14	144					0	0	0	0	G	71232224	A	G	71232224	2	3	203	1	0	0	0	0	0	0	0	1	5489	330	12	5		5	FAM135A	6	71232224	Silent	SNP	A	TCGA-CR-7377-01A-11D-2012-08	15306668	71232224	99882843	52	36354											
SIM1	6492	broad.mit.edu	37	chr6	100838427	100838427	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatgcttgtcaaaatacTgccggtgagagccaaagcag	14	7	11	9	1	1	1	1	1	0	1	1	2	1	1	2	1	6	3	2	1	5	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:100838427T>C	ENST00000369208.3	-	12	2893	c.2111A>G	c.(2110-2112)cAg>cGg	p.Q704R	SIM1_ENST00000262901.4_Missense_Mutation_p.Q704R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	704	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCAAAATACTGCCGGTGAGA	0.448													11	91					0	0	0	0	C	100838427	T	C	100838427	3	2	203	1	0	0	0	0	1	0	0	0	14411	1580	55	5	193	5	SIM1	6	100838427	Missense_Mutation	SNP	T	TCGA-CR-7377-01A-11D-2012-08	29606203	100838427	70276640	53	36355											
SIM1	6492	broad.mit.edu	37	chr6	100901656	100901656	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggagcagatgggagccCagttctcggccaacgttgtc	8	8	13	12	2	1	1	0	0	1	1	3	3	1	3	3	3	3	3	3	3	1	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:100901656C>T	ENST00000369208.3	-	3	1022	c.240G>A	c.(238-240)ctG>ctA	p.L80L	SIM1_ENST00000262901.4_Silent_p.L80L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	80	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GATGGGAGCCCAGTTCTCGGC	0.587													15	92					0	0	0	0	T	100901656	C	T	100901656	2	4	203	1	0	0	0	0	0	0	0	1	14411	581	21	4		4	SIM1	6	100901656	Silent	SNP	C	TCGA-CR-7377-01A-11D-2012-08	63229	100901656	70213411	54	36356											
TMEM200A	114801	broad.mit.edu	37	chr6	130762312	130762312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatgccccctttgctctctGacagctctgtgtctgtcttt	3	18	7	13	0	4	1	0	1	4	0	5	1	4	1	2	0	3	2	2	0	1	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:130762312G>A	ENST00000392429.1	+	2	3123	c.745G>A	c.(745-747)Gac>Aac	p.D249N	TMEM200A_ENST00000545622.1_Missense_Mutation_p.D249N|TMEM200A_ENST00000296978.3_Missense_Mutation_p.D249N	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	249						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTTGCTCTCTGACAGCTCTGT	0.463													10	82					0	0	0	0	A	130762312	G	A	130762312	3	1	203	1	0	0	0	0	1	0	0	0	16217	1290	45	2	747	2	TMEM200A	6	130762312	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	29860656	130762312	40352755	55	36357											
SGK1	6446	broad.mit.edu	37	chr6	134638658	134638658	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacccgcctggttagtgcaTatctgtttccccggtttacc	5	13	9	14	2	1	0	0	0	1	0	2	0	2	0	5	2	2	5	5	2	3	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:134638658T>C	ENST00000367858.5	-	0	538				SGK1_ENST00000524929.1_De_novo_Start_OutOfFrame	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1						apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GGTTAGTGCATATCTGTTTCC	0.493													15	67					0	0	0	0	C	134638658	T	C	134638658	1	2	203	1	0	0	0	0	0	0	0	0	14294	1421	49	5		5	SGK1	6	134638658	Translation_Start_Site	SNP	T	TCGA-CR-7377-01A-11D-2012-08	3876346	134638658	36476409	56	36358											
AHI1	54806	broad.mit.edu	37	chr6	135778701	135778701	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttaccattgggtgagaaAtcataaaatctgacttaagt	14	15	7	5	0	2	2	1	2	1	1	2	3	2	2	1	1	1	0	1	1	5	6			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr6:135778701A>G	ENST00000367800.4	-	7	1298	c.1082T>C	c.(1081-1083)aTt>aCt	p.I361T	AHI1_ENST00000327035.6_Missense_Mutation_p.I361T|AHI1_ENST00000457866.2_Missense_Mutation_p.I361T	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	361						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGGGTGAGAAATCATAAAATC	0.358													15	64					0	0	0	0	G	135778701	A	G	135778701	3	3	203	1	0	0	0	0	1	0	0	0	413	101	4	5	2649	5	AHI1	6	135778701	Missense_Mutation	SNP	A	TCGA-CR-7377-01A-11D-2012-08	1140043	135778701	35336366	57	36359											
TMEM106B	54664	broad.mit.edu	37	chr7	12258148	12258148	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agattaaggccaagaagaacGtaagtgattctaagaatatg	18	9	10	4	1	1	5	0	1	1	4	1	5	1	5	1	1	1	1	1	1	8	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:12258148G>A	ENST00000396667.2	+	4	603		c.e4+1		TMEM106B_ENST00000396668.3_Splice_Site	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B							integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		CAAGAAGAACGTAAGTGATTC	0.279													10	30					0	0	0	0	A	12258148	G	A	12258148	5	1	203	1	0	0	0	0	0	0	1	0	16115	1159	40	1	288	1	TMEM106B	7	12258148	Splice_Site	SNP	G	TCGA-CR-7377-01A-11D-2012-08		12258148	146880515	58	36360											
ANKMY2	57037	broad.mit.edu	37	chr7	16640498	16640498	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcttcaggattggaatccTtttgagagatacctacttca	12	14	7	8	0	3	2	2	1	1	1	4	5	4	4	2	2	2	0	2	2	4	7			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:16640498T>C	ENST00000306999.2	-	10	1457	c.1214A>G	c.(1213-1215)aAg>aGg	p.K405R		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	405						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ATTGGAATCCTTTTGAGAGAT	0.428													15	52					0	0	0	0	C	16640498	T	C	16640498	3	2	203	1	0	0	0	0	1	0	0	0	635	1609	56	5	115	5	ANKMY2	7	16640498	Missense_Mutation	SNP	T	TCGA-CR-7377-01A-11D-2012-08	4382350	16640498	142498165	59	36361											
BMPER	168667	broad.mit.edu	37	chr7	34118721	34118721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcgctggaacggctcgcGcatcgcgctcccctgccgcg	3	6	14	18	9	0	0	0	0	0	0	3	1	1	1	3	2	3	4	3	2	1	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:34118721G>A	ENST00000297161.2	+	13	1705	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	BMPER_ENST00000426693.1_Missense_Mutation_p.R444H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	444	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AACGGCTCGCGCATCGCGCTC	0.662													4	102					0	0	0	0	A	34118721	G	A	34118721	3	1	203	1	0	0	0	0	1	0	0	0	1473	1087	38	1	1377	1	BMPER	7	34118721	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	17478223	34118721	125019942	60	36362											
ELMO1	9844	broad.mit.edu	37	chr7	37264509	37264509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtggaatgagctggcCgatggtgatctcctgcgcca	7	9	15	10	2	1	2	0	2	1	0	2	4	1	3	3	4	2	1	3	4	1	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:37264509C>T	ENST00000310758.4	-	9	1323	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	ELMO1_ENST00000442504.1_Missense_Mutation_p.G226S|ELMO1_ENST00000448602.1_Missense_Mutation_p.G226S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	226					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATGAGCTGGCCGATGGTGATC	0.532													24	73					0	0	0	0	T	37264509	C	T	37264509	3	4	203	1	0	0	0	0	1	0	0	0	5103	652	23	1	1563	1	ELMO1	7	37264509	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	3145788	37264509	121874154	61	36363											
HECW1	23072	broad.mit.edu	37	chr7	43581558	43581558	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaacatcacagacatcttAgacctcactttcactgttaa	15	11	3	12	0	4	2	3	0	1	2	4	2	4	2	1	0	2	1	1	0	4	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:43581558A>G	ENST00000395891.1	+	26	4814	c.4209A>G	c.(4207-4209)ttA>ttG	p.L1403L	HECW1_ENST00000453890.1_Silent_p.L1369L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1403	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGACATCTTAGACCTCACTT	0.408													13	65					0	0	0	0	G	43581558	A	G	43581558	2	3	203	1	0	0	0	0	0	0	0	1	7092	417	15	5		5	HECW1	7	43581558	Silent	SNP	A	TCGA-CR-7377-01A-11D-2012-08	6317049	43581558	115557105	62	36364											
DBNL	28988	broad.mit.edu	37	chr7	44089842	44089842	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggctctctttacctatgaAggcaacagcaatgacatccg	12	9	9	11	1	1	2	0	2	1	0	3	2	2	2	2	2	3	3	2	2	5	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:44089842A>C	ENST00000494774.1	+	2	123	c.102A>C	c.(100-102)gaA>gaC	p.E34D	DBNL_ENST00000468694.1_Missense_Mutation_p.E34D|DBNL_ENST00000456905.1_Missense_Mutation_p.E34D|DBNL_ENST00000490734.2_Missense_Mutation_p.K2T|DBNL_ENST00000452943.1_Missense_Mutation_p.E34D|DBNL_ENST00000448521.1_Missense_Mutation_p.E34D|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000497184.1_3'UTR	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	34	ADF-H.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						TTACCTATGAAGGCAACAGCA	0.542													3	121					0	0	0	0	C	44089842	A	C	44089842	3	2	203	1	0	0	0	0	1	0	0	0	4288	69	3	5	108	5	DBNL	7	44089842	Missense_Mutation	SNP	A	TCGA-CR-7377-01A-11D-2012-08	508284	44089842	115048821	63	36365											
STEAP4	79689	broad.mit.edu	37	chr7	87913347	87913347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataatgctctctgtggattgCtatgattatgatgccagact	10	15	9	7	0	1	3	0	2	1	1	2	4	1	4	1	1	3	2	1	1	3	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:87913347C>T	ENST00000380079.4	-	2	339	c.238G>A	c.(238-240)Gca>Aca	p.A80T	STEAP4_ENST00000414498.1_Missense_Mutation_p.A80T|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.A80T|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	80					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTGTGGATTGCTATGATTATG	0.413													11	94					0	0	0	0	T	87913347	C	T	87913347	3	4	203	1	0	0	0	0	1	0	0	0	15370	797	28	4	1157	4	STEAP4	7	87913347	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	43823505	87913347	71225316	64	36366											
ZNF804B	219578	broad.mit.edu	37	chr7	88965755	88965755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccataacattttctcctgaCgaaatagataaatataagat	17	12	4	8	1	1	3	0	1	1	2	2	4	1	3	2	0	1	0	2	0	7	7	rs76889726	by1000genomes	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:88965755C>A	ENST00000333190.4	+	4	4068	c.3459C>A	c.(3457-3459)gaC>gaA	p.D1153E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1153						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTCTCCTGACGAAATAGATA	0.418										HNSCC(36;0.09)			6	64					5.9392e-07	7.20213e-07	1	0	A	88965755	C	A	88965755	3	1	203	1	0	0	0	0	1	0	0	0	18264	535	19	3	3473	3	ZNF804B	7	88965755	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	1052408	88965755	70172908	65	36367											
ZAN	7455	broad.mit.edu	37	chr7	100358081	100358081	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgggtgcaagcgggcGgtttgtggagctgcagacgg	5	9	18	9	3	0	1	0	0	0	1	1	2	1	2	1	5	4	4	1	5	1	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr7:100358081G>A	ENST00000542585.1	+	0	3912				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCAAGCGGGCGGTTTGTGGAG	0.587													14	95					0	0	0	0	A	100358081	G	A	100358081	1	1	203	0	1	0	0	0	0	0	0	0	17609	1116	39	1		1	ZAN	7	100358081	RNA	SNP	G	TCGA-CR-7377-01A-11D-2012-08	11392326	100358081	58780582	66	36368											
CSMD1	64478	broad.mit.edu	37	chr8	4494972	4494972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgtatcctattgcgctcgCccgtgatgatgatccaggtg	7	12	11	11	3	0	3	0	3	0	0	3	3	2	3	3	1	1	2	3	1	2	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr8:4494972C>G	ENST00000520002.1	-	2	749	c.194G>C	c.(193-195)gGc>gCc	p.G65A	CSMD1_ENST00000537824.1_Missense_Mutation_p.G65A|CSMD1_ENST00000602723.1_Missense_Mutation_p.G65A|CSMD1_ENST00000400186.3_Missense_Mutation_p.G65A|CSMD1_ENST00000602557.1_Missense_Mutation_p.G65A|CSMD1_ENST00000542608.1_Missense_Mutation_p.G65A|CSMD1_ENST00000539096.1_Missense_Mutation_p.G65A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	65	CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTGCGCTCGCCCGTGATGAT	0.473													18	93					0	0	0	0	G	4494972	C	G	4494972	3	3	203	1	0	0	0	0	1	0	0	0	3976	739	26	4	10589	4	CSMD1	8	4494972	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08		4494972	141869050	67	36369											
TRPA1	8989	broad.mit.edu	37	chr8	72938196	72938196	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgttatgtgtacttacgAataacatcccaccagatctg	12	14	6	9	1	1	1	0	0	1	1	2	2	2	1	2	0	3	2	2	0	5	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr8:72938196A>G	ENST00000262209.4	-	25	3257	c.3051_splice	c.e25+1	p.F1017_splice	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1017						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGTACTTACGAATAACATCCC	0.413													7	57					0	0	0	0	G	72938196	A	G	72938196	5	3	203	1	0	0	0	0	0	0	1	0	16672	260	9	5	321	5	TRPA1	8	72938196	Splice_Site	SNP	A	TCGA-CR-7377-01A-11D-2012-08	68443224	72938196	73425826	68	36370											
CNGB3	54714	broad.mit.edu	37	chr8	87645051	87645051	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaaaaacaatttcaaataAagtttgtggttctggaaggc	15	13	9	4	0	2	1	1	1	1	0	2	2	2	2	0	3	1	2	0	3	7	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr8:87645051A>C	ENST00000320005.5	-	11	1296	c.1249T>G	c.(1249-1251)Tta>Gta	p.L417V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	417					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATTTCAAATAAAGTTTGTGGT	0.343													17	33					0	0	0	0	C	87645051	A	C	87645051	3	2	203	1	0	0	0	0	1	0	0	0	3631	11	1	5	1212	5	CNGB3	8	87645051	Missense_Mutation	SNP	A	TCGA-CR-7377-01A-11D-2012-08	14706855	87645051	58718971	69	36371											
TRPM6	140803	broad.mit.edu	37	chr9	77370356	77370356	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctggctctggattcaactGgtcactctgagagcaggcat	8	11	11	11	0	4	1	2	1	2	1	5	3	5	2	1	4	2	3	1	4	1	1			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:77370356G>A	ENST00000451710.3	-	28	5056	c.4819C>T	c.(4819-4821)Cag>Tag	p.Q1607*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Q1602*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.Q558*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Q1607*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Q1607*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Q1602*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1607					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						GGATTCAACTGGTCACTCTGA	0.428													3	81					0	0	0	0	A	77370356	G	A	77370356	4	1	203	1	0	0	0	0	0	1	0	0	16685	1357	47	4	1297	4	TRPM6	9	77370356	Nonsense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08		77370356	63843075	70	36372											
C9orf3	84909	broad.mit.edu	37	chr9	97535328	97535328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccataaacaacagggcccTttttccatgccaggagccac	11	8	7	15	0	0	0	0	0	0	0	2	1	2	1	5	2	4	0	5	2	3	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:97535328T>C	ENST00000375315.2	+	2	842	c.842T>C	c.(841-843)cTt>cCt	p.L281P	C9orf3_ENST00000277198.2_Missense_Mutation_p.L281P|C9orf3_ENST00000297979.5_Missense_Mutation_p.L281P	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	281					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AACAGGGCCCTTTTTCCATGC	0.463													3	165					0	0	0	0	C	97535328	T	C	97535328	3	2	203	1	0	0	0	0	1	0	0	0	2502	1609	56	5	848	5	C9orf3	9	97535328	Missense_Mutation	SNP	T	TCGA-CR-7377-01A-11D-2012-08	20164972	97535328	43678103	71	36373											
ZNF510	22869	broad.mit.edu	37	chr9	99522337	99522337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcattaaaggcttttccaaTtttattacattcaaaagctt	14	17	3	7	0	2	0	2	0	0	0	3	0	3	0	1	1	2	2	1	1	7	8			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:99522337T>C	ENST00000375231.1	-	6	1425	c.775A>G	c.(775-777)Att>Gtt	p.I259V	ZNF510_ENST00000223428.4_Missense_Mutation_p.I259V			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCTTTTCCAATTTTATTACAT	0.303													6	50					0	0	0	0	C	99522337	T	C	99522337	3	2	203	1	0	0	0	0	1	0	0	0	18049	1493	52	5	1280	5	ZNF510	9	99522337	Missense_Mutation	SNP	T	TCGA-CR-7377-01A-11D-2012-08	1987009	99522337	41691094	72	36374											
TEX10	54881	broad.mit.edu	37	chr9	103070951	103070951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgtgctgtcaggaattaCagtcaacccaacctaagcag	13	7	9	12	1	2	0	2	0	0	0	2	1	2	1	3	1	6	2	3	1	5	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:103070951C>T	ENST00000374902.4	-	13	2472	c.2296G>A	c.(2296-2298)Gta>Ata	p.V766I	TEX10_ENST00000535814.1_Missense_Mutation_p.V769I	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	766						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TCAGGAATTACAGTCAACCCA	0.428													15	55					0	0	0	0	T	103070951	C	T	103070951	3	4	203	1	0	0	0	0	1	0	0	0	15866	478	17	4	505	4	TEX10	9	103070951	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	3548614	103070951	38142480	73	36375											
ZNF483	158399	broad.mit.edu	37	chr9	114305147	114305147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaccagtgtgagaaagccttCccaacccattcactgctaag	13	8	7	13	0	1	1	1	1	0	1	2	2	2	1	4	0	4	1	4	0	4	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:114305147C>T	ENST00000309235.5	+	6	2090	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	644					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AGAAAGCCTTCCCAACCCATT	0.388													9	48					0	0	0	0	T	114305147	C	T	114305147	2	4	203	1	0	0	0	0	0	0	0	1	18031	854	30	2		2	ZNF483	9	114305147	Silent	SNP	C	TCGA-CR-7377-01A-11D-2012-08	11234196	114305147	26908284	74	36376											
CRB2	286204	broad.mit.edu	37	chr9	126137517	126137517	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggtccccactctcccCtgtgaagccaacccctgctt	6	10	7	18	0	2	1	1	1	1	0	4	1	3	1	7	1	3	1	7	1	2	1			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:126137517C>T	ENST00000373631.3	+	12	3529	c.3528C>T	c.(3526-3528)ccC>ccT	p.P1176P	CRB2_ENST00000373629.2_Silent_p.P844P	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	1176	EGF-like 15.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCACTCTCCCCTGTGAAGCCA	0.627													8	91					0	0	0	0	T	126137517	C	T	126137517	2	4	203	1	0	0	0	0	0	0	0	1	3879	668	24	4		4	CRB2	9	126137517	Silent	SNP	C	TCGA-CR-7377-01A-11D-2012-08	11832370	126137517	15075914	75	36377											
NOTCH1	4851	broad.mit.edu	37	chr9	139392011	139392011	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacaggggtgtctcctcCtgggggatgagggcgggggc	7	6	20	8	1	1	2	0	1	1	1	3	3	2	3	2	7	1	0	2	7	1	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:139392011C>T	ENST00000277541.6	-	34	6256		c.e34-1			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGTCTCCTCCTGGGGGATGA	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			4	23					0	0	0	0	T	139392011	C	T	139392011	5	4	203	1	0	0	0	0	0	0	1	0	10617	695	24	4	1491	4	NOTCH1	9	139392011	Splice_Site	SNP	C	TCGA-CR-7377-01A-11D-2012-08	13254494	139392011	1821420	76	36378											
NOTCH1	4851	broad.mit.edu	37	chr9	139400000	139400000	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcactcgggcagctCgcacgcctcctcgatcagcg	5	7	11	18	5	1	0	1	0	0	0	6	1	3	0	3	2	2	4	3	2	0	0	rs147841035	by1000genomes	TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr9:139400000C>A	ENST00000277541.6	-	25	4423	c.4348G>T	c.(4348-4350)Gag>Tag	p.E1450*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1450					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGGGCAGCTCGCACGCCTCC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			7	47					0.000442599	0.000521723	1	0	A	139400000	C	A	139400000	4	1	203	1	0	0	0	0	0	1	0	0	10617	893	31	3	3359	3	NOTCH1	9	139400000	Nonsense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	7989	139400000	1813431	77	36379											
PFKFB3	5209	broad.mit.edu	37	chr10	6255710	6255710	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggattggcgtccccacaaaAggtgagactgggtctcgagg	9	8	15	9	2	1	1	0	1	1	1	3	4	2	2	2	5	0	0	2	5	2	1			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr10:6255710A>G	ENST00000379775.4	+	2	531	c.202_splice	c.e2+1	p.K67_splice	PFKFB3_ENST00000379782.3_Splice_Site_p.K67_splice|PFKFB3_ENST00000360521.2_Splice_Site_p.K67_splice|PFKFB3_ENST00000317350.4_Splice_Site_p.K67_splice|PFKFB3_ENST00000536985.1_Splice_Site_p.K47_splice|PFKFB3_ENST00000540253.1_Splice_Site_p.K81_splice|PFKFB3_ENST00000379785.1_Splice_Site_p.K67_splice|PFKFB3_ENST00000379789.4_Splice_Site_p.K47_splice	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	67	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TCCCCACAAAAGGTGAGACTG	0.612													3	158					0	0	0	0	G	6255710	A	G	6255710	5	3	203	1	0	0	0	0	0	0	1	0	11834	86	3	5	227	5	PFKFB3	10	6255710	Splice_Site	SNP	A	TCGA-CR-7377-01A-11D-2012-08		6255710	129279037	78	36380											
PCDH15	65217	broad.mit.edu	37	chr10	55600185	55600185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaaggcatctccatgcCggcgagctccaatggactcc	10	6	12	13	2	1	0	0	0	1	0	4	3	3	2	4	4	2	2	4	4	3	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr10:55600185C>A	ENST00000373965.2	-	30	4293	c.3899G>T	c.(3898-3900)cGg>cTg	p.R1300L	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1222L|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1293L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R904L|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1298L|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1271L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1293L|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1293L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1300L|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1293L|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1256L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1293					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATCTCCATGCCGGCGAGCTCC	0.448										HNSCC(58;0.16)			11	71					0.00829132	0.00950798	1	0	A	55600185	C	A	55600185	3	1	203	1	0	0	0	0	1	0	0	0	11582	652	23	3	3628	3	PCDH15	10	55600185	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	49344475	55600185	79934562	79	36381											
ARID5B	84159	broad.mit.edu	37	chr10	63829502	63829502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatatttatgatgaattagGcggtaatcctgggagcacca	13	11	10	7	1	0	2	0	2	0	0	1	3	1	3	2	3	1	2	2	3	5	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr10:63829502G>A	ENST00000279873.7	+	8	1555	c.1145G>A	c.(1144-1146)gGc>gAc	p.G382D	ARID5B_ENST00000309334.5_Missense_Mutation_p.G139D	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	382	ARID.				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GATGAATTAGGCGGTAATCCT	0.403													12	58					0	0	0	0	A	63829502	G	A	63829502	3	1	203	1	0	0	0	0	1	0	0	0	924	1203	42	4	1175	4	ARID5B	10	63829502	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	8229317	63829502	71705245	80	36382											
ZNF503	84858	broad.mit.edu	37	chr10	77160129	77160129	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagcgggctcttcttggcatCgagctgcggggtcagacgat	6	9	15	11	4	3	1	1	0	2	1	4	3	3	1	0	4	3	3	0	4	0	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr10:77160129C>G	ENST00000372524.4	-	2	805	c.319G>C	c.(319-321)Gat>Cat	p.D107H	ZNF503_ENST00000535216.1_Missense_Mutation_p.D107H|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TTCTTGGCATCGAGCTGCGGG	0.597													8	45					0	0	0	0	G	77160129	C	G	77160129	3	3	203	1	0	0	0	0	1	0	0	0	18046	884	31	3	1625	3	ZNF503	10	77160129	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	13330627	77160129	58374618	81	36383											
CARS	833	broad.mit.edu	37	chr11	3038413	3038413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcacggctttccgggCtgccatatagaggttgcact	6	12	10	13	2	1	1	1	0	0	1	3	1	3	1	3	3	2	4	3	3	2	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:3038413C>A	ENST00000397114.3	-	16	1937	c.1561G>T	c.(1561-1563)Gcc>Tcc	p.A521S	CARS_ENST00000397111.5_Missense_Mutation_p.A531S|CARS_ENST00000401769.3_Missense_Mutation_p.A544S|CARS_ENST00000380525.4_Missense_Mutation_p.A614S|CARS_ENST00000278224.9_Missense_Mutation_p.A531S			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	531					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GCTTTCCGGGCTGCCATATAG	0.577			T	ALK	ALCL								8	71					5.18039e-06	6.24607e-06	1	0	A	3038413	C	A	3038413	3	1	203	1	0	0	0	0	1	0	0	0	2682	797	28	4	695	4	CARS	11	3038413	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08		3038413	131968103	82	36384											
NUP98	4928	broad.mit.edu	37	chr11	3697423	3697423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagccagttctcgcagatagGactgggtaaggctgcgcagt	9	8	14	10	2	1	1	0	0	1	1	2	2	1	2	1	3	2	5	1	3	2	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:3697423G>A	ENST00000324932.7	-	33	5789	c.5369C>T	c.(5368-5370)tCc>tTc	p.S1790F	NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.S1716F	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1807					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TCGCAGATAGGACTGGGTAAG	0.587			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								11	60					0	0	0	0	A	3697423	G	A	3697423	3	1	203	1	0	0	0	0	1	0	0	0	10844	1174	41	2	37	2	NUP98	11	3697423	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	659010	3697423	131309093	83	36385											
TAF10	6881	broad.mit.edu	37	chr11	6632171	6632173	+	In_Frame_Del	DEL	CTT	CTT	-																															gctcaggtgaagtagtgcggCttcttcacattgatgccata																										TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:6632171_6632173delCTT	ENST00000299424.4	-	5	1114_1116	c.637_639delAAG	c.(637-639)del	p.K213del		NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	213					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTAGTGCGGCTTCTTCACATTG	0.512													17	126	---	---	---	---					-	6632173	CTT	-	6632171	7	5	203	1	0	1	0	1	0	0	0	0	15605	796	28	0	21	0	TAF10	11	6632171	In_Frame_Del	DEL	CTT	TCGA-CR-7377-01A-11D-2012-08	2934748	6632171	128374345	84	36386											
TPH1	7166	broad.mit.edu	37	chr11	18054883	18054883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttggcacaatggtccaggtCagaaatcttctttggaaacc	11	11	10	9	0	3	1	1	0	2	1	4	2	4	2	2	4	1	2	2	4	3	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:18054883C>G	ENST00000250018.2	-	3	902	c.340G>C	c.(340-342)Gac>Cac	p.D114H	TPH1_ENST00000341556.2_Missense_Mutation_p.D114H	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	114					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGGTCCAGGTCAGAAATCTTC	0.328													21	157					0	0	0	0	G	18054883	C	G	18054883	3	3	203	1	0	0	0	0	1	0	0	0	16496	826	29	2	1026	2	TPH1	11	18054883	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	11422712	18054883	116951633	85	36387											
HRASLS2	54979	broad.mit.edu	37	chr11	63326093	63326093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctatggctttgttggtcaggGcagacaggacactggccgca	8	9	14	10	1	1	1	1	0	0	1	1	2	1	2	1	5	0	4	1	5	1	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:63326093G>A	ENST00000255695.1	-	3	216	c.158C>T	c.(157-159)gCc>gTc	p.A53V		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	53					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						GTTGGTCAGGGCAGACAGGAC	0.557													4	162					0	0	0	0	A	63326093	G	A	63326093	3	1	203	1	0	0	0	0	1	0	0	0	7400	1203	42	4	338	4	HRASLS2	11	63326093	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	45271210	63326093	71680423	86	36388											
KLC2	64837	broad.mit.edu	37	chr11	66033999	66033999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcactgggcagctgcGgccggggctgcatgcgtgct	3	8	18	12	3	1	0	0	0	1	0	1	0	1	0	1	5	5	6	1	5	0	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:66033999G>A	ENST00000394065.2	+	13	2424	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	KLC2_ENST00000316924.5_Intron|KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394067.2_Intron|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000421552.1_Intron|KLC2_ENST00000417856.1_Intron			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	0					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GGGCAGCTGCGGCCGGGGCTG	0.627													23	35					0	0	0	0	A	66033999	G	A	66033999	3	1	203	1	0	0	0	0	1	0	0	0	8386	1131	39	1		1	KLC2	11	66033999	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	2707906	66033999	68972517	87	36389											
IGHMBP2	3508	broad.mit.edu	37	chr11	68701351	68701351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcgggctgtttgagctggagGaggaggacgaacagtcgaaa	11	6	18	6	3	0	1	0	1	0	0	1	7	0	5	0	5	2	3	0	5	2	1			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:68701351G>A	ENST00000255078.3	+	10	1618	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	503					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGAGCTGGAGGAGGAGGACGA	0.562													7	16					0	0	0	0	A	68701351	G	A	68701351	3	1	203	1	0	0	0	0	1	0	0	0	7644	1175	41	2	1545	2	IGHMBP2	11	68701351	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	2667352	68701351	66305165	88	36390											
MYO7A	4647	broad.mit.edu	37	chr11	76919561	76919561	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctcggcccatcaaggaCggtaatgaggccgggtcctg	10	6	14	11	3	1	1	1	1	0	0	3	2	2	2	3	5	1	2	3	5	3	1			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:76919561C>T	ENST00000409709.3	+	43	6215	c.5944_splice	c.e43+1	p.D1981_splice	MYO7A_ENST00000458637.2_Splice_Site_p.D1943_splice|MYO7A_ENST00000409619.2_Splice_Site_p.D1932_splice|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1981	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCATCAAGGACGGTAATGAGG	0.597													3	21					0	0	0	0	T	76919561	C	T	76919561	5	4	203	1	0	0	0	0	0	0	1	0	10152	550	19	1	6143	1	MYO7A	11	76919561	Splice_Site	SNP	C	TCGA-CR-7377-01A-11D-2012-08	8218210	76919561	58086955	89	36391											
SCN3B	55800	broad.mit.edu	37	chr11	123516409	123516409	+	Silent	SNP	G	G	A																															ttcatggggttgccctgcacGgcctccgtctccgagggcac																										TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:123516409G>A	ENST00000392770.2	-	2	907	c.105C>T	c.(103-105)gcC>gcT	p.A35A	SCN3B_ENST00000530277.1_Silent_p.A35A|SCN3B_ENST00000299333.3_Silent_p.A35A	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	35	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TGCCCTGCACGGCCTCCGTCT	0.627													15	100					0	0	0	0	A	123516409	G	A	123516409	2	1	203	1	0	0	0	0	0	0	0	1	14006	1103	39	1		1	SCN3B	11	123516409	Silent	SNP	G	TCGA-CR-7377-01A-11D-2012-08	46596848	123516409	11490107	90	36392	281	2									
SCN3B	55800	broad.mit.edu	37	chr11	123516410	123516410	+	Missense_Mutation	SNP	G	G	A																															tcatggggttgccctgcacgGcctccgtctccgagggcact																										TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr11:123516410G>A	ENST00000392770.2	-	2	906	c.104C>T	c.(103-105)gCc>gTc	p.A35V	SCN3B_ENST00000530277.1_Missense_Mutation_p.A35V|SCN3B_ENST00000299333.3_Missense_Mutation_p.A35V	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	35	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GCCCTGCACGGCCTCCGTCTC	0.627													15	100					0	0	0	0	A	123516410	G	A	123516410	3	1	203	1	0	0	0	0	1	0	0	0	14006	1203	42	4	559	4	SCN3B	11	123516410	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	1	123516410	11490106	91	36393	281	2									
GOLT1B	51026	broad.mit.edu	37	chr12	21668638	21668638	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagaaagcaacaatatggtAtaacaacaagtgaatttgaa	20	8	9	4	0	0	3	0	2	0	1	0	4	0	3	0	2	4	2	0	2	10	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:21668638A>G	ENST00000229314.5	+	5	523	c.414A>G	c.(412-414)gtA>gtG	p.V138V	GOLT1B_ENST00000542038.1_Silent_p.V74V|GOLT1B_ENST00000540141.1_3'UTR|GOLT1B_ENST00000535593.1_3'UTR	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	138					positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						ACAATATGGTATAACAACAAG	0.264													8	58					0	0	0	0	G	21668638	A	G	21668638	2	3	203	1	0	0	0	0	0	0	0	1	6619	436	16	5		5	GOLT1B	12	21668638	Silent	SNP	A	TCGA-CR-7377-01A-11D-2012-08		21668638	112183257	92	36394											
ASB8	140461	broad.mit.edu	37	chr12	48543152	48543152	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaacatcttctccggctaTtctaaaagtaacaggtattc	13	12	6	10	1	3	0	0	0	3	0	5	0	3	0	1	2	2	4	1	2	6	7			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:48543152T>C	ENST00000317697.3	-	4	1033	c.864A>G	c.(862-864)gaA>gaG	p.E288E	ASB8_ENST00000536549.1_Silent_p.E288E	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	288	SOCS box.				intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TCTCCGGCTATTCTAAAAGTA	0.517													6	50					0	0	0	0	C	48543152	T	C	48543152	2	2	203	1	0	0	0	0	0	0	0	1	1033	1490	52	5		5	ASB8	12	48543152	Silent	SNP	T	TCGA-CR-7377-01A-11D-2012-08	26874514	48543152	85308743	93	36395											
TUBA1B	10376	broad.mit.edu	37	chr12	49521800	49521800	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatccacaccaacctcctCataatccttctcaagggcag	13	8	5	15	0	2	1	2	0	1	1	6	1	5	1	5	1	1	1	5	1	4	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:49521800C>A	ENST00000336023.5	-	4	1391	c.1297G>T	c.(1297-1299)Gag>Tag	p.E433*	RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	433					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						CCAACCTCCTCATAATCCTTC	0.517													29	168					1.88708e-17	2.37009e-17	1	0	A	49521800	C	A	49521800	4	1	203	1	0	0	0	0	0	1	0	0	16840	835	29	2	62	2	TUBA1B	12	49521800	Nonsense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	978648	49521800	84330095	94	36396											
ESYT1	23344	broad.mit.edu	37	chr12	56524381	56524381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtcagcttcccagacGtggaaaaggctgaatggctc	10	8	12	11	1	1	2	1	1	0	1	4	3	3	3	2	4	1	3	2	4	3	1			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:56524381G>A	ENST00000394048.5	+	2	670	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	ESYT1_ENST00000541590.1_Missense_Mutation_p.V136M|ESYT1_ENST00000267113.4_Missense_Mutation_p.V136M	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	136						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTTCCCAGACGTGGAAAAGGC	0.507													12	76					0	0	0	0	A	56524381	G	A	56524381	3	1	203	1	0	0	0	0	1	0	0	0	5302	1145	40	1	412	1	ESYT1	12	56524381	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	7002581	56524381	77327514	95	36397											
TMEM19	55266	broad.mit.edu	37	chr12	72091109	72091109	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatggagctgtacccacAgaactggccctgctgtacat	10	10	10	11	0	0	1	0	0	0	1	0	2	0	2	2	2	5	5	2	2	4	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:72091109A>G	ENST00000266673.5	+	4	1026	c.432A>G	c.(430-432)acA>acG	p.T144T	TMEM19_ENST00000549735.1_Silent_p.T144T|RP11-293I14.2_ENST00000548802.1_3'UTR	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	144						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGTACCCACAGAACTGGCCC	0.468													27	128					0	0	0	0	G	72091109	A	G	72091109	2	3	203	1	0	0	0	0	0	0	0	1	16207	175	7	5		5	TMEM19	12	72091109	Silent	SNP	A	TCGA-CR-7377-01A-11D-2012-08	15566728	72091109	61760786	96	36398											
PWP1	11137	broad.mit.edu	37	chr12	108102726	108102726	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtacagatgacggctttgtAtataatttggatgcacgttc	11	14	10	6	2	0	2	0	1	0	1	1	3	0	3	0	2	2	5	0	2	4	7			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:108102726A>G	ENST00000412830.3	+	12	1269	c.1101A>G	c.(1099-1101)gtA>gtG	p.V367V	PWP1_ENST00000541166.1_Silent_p.V305V	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	367					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						ACGGCTTTGTATATAATTTGG	0.368													5	34					0	0	0	0	G	108102726	A	G	108102726	2	3	203	1	0	0	0	0	0	0	0	1	12925	436	16	5		5	PWP1	12	108102726	Silent	SNP	A	TCGA-CR-7377-01A-11D-2012-08	36011617	108102726	25749169	97	36399											
TMEM132B	114795	broad.mit.edu	37	chr12	126139185	126139185	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgataacatcaagtgggtcTgccaagatatggggctgggg	11	9	15	6	0	2	2	1	1	1	1	2	2	2	2	1	5	2	1	1	5	4	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr12:126139185T>A	ENST00000299308.3	+	9	3174	c.3166T>A	c.(3166-3168)Tgc>Agc	p.C1056S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.C568S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1056						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAAGTGGGTCTGCCAAGATAT	0.473													4	75					0	0	0	0	A	126139185	T	A	126139185	3	1	203	1	0	0	0	0	1	0	0	0	16140	1580	55	5	3200	5	TMEM132B	12	126139185	Missense_Mutation	SNP	T	TCGA-CR-7377-01A-11D-2012-08	18036459	126139185	7712710	98	36400											
SPERT	220082	broad.mit.edu	37	chr13	46287817	46287817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggccccctcgccactgctGcacaaagacagcgcgtccct	7	5	10	19	4	0	1	0	0	0	1	2	1	1	1	4	1	3	2	4	1	1	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr13:46287817G>A	ENST00000378966.3	+	2	965	c.549G>A	c.(547-549)ctG>ctA	p.L183L	SPERT_ENST00000310521.1_Silent_p.L219L			Q8NA61	SPERT_HUMAN	spermatid associated	219						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGCCACTGCTGCACAAAGACA	0.657													4	47					0	0	0	0	A	46287817	G	A	46287817	2	1	203	1	0	0	0	0	0	0	0	1	15129	1306	46	4		4	SPERT	13	46287817	Silent	SNP	G	TCGA-CR-7377-01A-11D-2012-08		46287817	68882061	99	36401											
LPAR6	10161	broad.mit.edu	37	chr13	48985944	48985944	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttaaagtttttagcaccaTactagaacaagttacattta	15	14	6	6	0	0	1	0	0	0	1	0	1	0	1	1	1	4	4	1	1	9	9			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr13:48985944T>C	ENST00000378434.4	-	7	2240	c.616A>G	c.(616-618)Atg>Gtg	p.M206V	LPAR6_ENST00000345941.2_Missense_Mutation_p.M206V|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	206						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TTTAGCACCATACTAGAACAA	0.284													5	38					0	0	0	0	C	48985944	T	C	48985944	3	2	203	1	0	0	0	0	1	0	0	0	8973	1406	49	5	422	5	LPAR6	13	48985944	Missense_Mutation	SNP	T	TCGA-CR-7377-01A-11D-2012-08	2698127	48985944	66183934	100	36402											
DIS3	22894	broad.mit.edu	37	chr13	73334727	73334727	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattagatgagtctaacatGattttcactttaactttatc	13	17	5	6	0	2	4	1	2	1	2	3	4	2	4	0	0	2	0	0	0	4	8			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr13:73334727G>T	ENST00000377767.4	-	20	2833	c.2733C>A	c.(2731-2733)atC>atA	p.I911I	DIS3_ENST00000377780.4_Silent_p.I881I|DIS3_ENST00000545453.1_Silent_p.I749I	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	911					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AGTCTAACATGATTTTCACTT	0.333										Multiple Myeloma(4;0.011)			12	57					6.40141e-05	7.58819e-05	1	0	T	73334727	G	T	73334727	2	4	203	1	0	0	0	0	0	0	0	1	4572	1280	45	2		2	DIS3	13	73334727	Silent	SNP	G	TCGA-CR-7377-01A-11D-2012-08	24348783	73334727	41835151	101	36403											
CARS2	79587	broad.mit.edu	37	chr13	111299462	111299462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttacctctcccacagcatCgcttccctgacggagccgca	7	9	7	18	3	2	1	0	1	2	0	5	2	3	2	4	1	3	3	4	1	1	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr13:111299462C>T	ENST00000257347.4	-	11	1242	c.1179G>A	c.(1177-1179)gcG>gcA	p.A393A	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	393					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CCCACAGCATCGCTTCCCTGA	0.672													3	14					0	0	0	0	T	111299462	C	T	111299462	2	4	203	1	0	0	0	0	0	0	0	1	2683	871	31	1		1	CARS2	13	111299462	Silent	SNP	C	TCGA-CR-7377-01A-11D-2012-08	37964735	111299462	3870416	102	36404											
OSGEP	55644	broad.mit.edu	37	chr14	20917164	20917164	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtatcctggacttgggtcGttagaaatctagcagaagaa	12	12	11	6	1	1	3	0	0	1	3	3	4	2	4	1	2	1	3	1	2	6	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:20917164G>A	ENST00000555656.1	-	0	1874				OSGEP_ENST00000554249.1_De_novo_Start_OutOfFrame|OSGEP_ENST00000206542.4_Silent_p.N172N			Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase						proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GACTTGGGTCGTTAGAAATCT	0.453													21	198					0	0	0	0	A	20917164	G	A	20917164	1	1	203	1	0	0	0	0	0	0	0	0	11358	1136	40	1		1	OSGEP	14	20917164	Translation_Start_Site	SNP	G	TCGA-CR-7377-01A-11D-2012-08		20917164	86432376	103	36405											
MYH7	4625	broad.mit.edu	37	chr14	23887505	23887505	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctccgagttggccttggaAaggacgcgctgcagctcggc	7	7	14	13	4	0	0	0	0	0	0	2	3	1	2	3	4	2	4	3	4	1	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:23887505A>C	ENST00000355349.3	-	30	4245	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1361					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1361L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTTGGAAAGGACGCGCT	0.652													3	136					0	0	0	0	C	23887505	A	C	23887505	2	2	203	1	0	0	0	0	0	0	0	1	10109	1	1	5		5	MYH7	14	23887505	Silent	SNP	A	TCGA-CR-7377-01A-11D-2012-08	2970341	23887505	83462035	104	36406											
GMPR2	51292	broad.mit.edu	37	chr14	24702464	24702464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaggctaagcgccatgcCtcatattgacaacgatgtga	11	8	10	12	3	1	2	1	2	0	0	1	4	1	2	3	1	3	1	3	1	3	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:24702464C>T	ENST00000557854.1	+	1	336	c.59C>T	c.(58-60)cCt>cTt	p.P20L	GMPR2_ENST00000355299.4_Missense_Mutation_p.P2L|GMPR2_ENST00000559910.1_Missense_Mutation_p.P2L|GMPR2_ENST00000420554.2_Missense_Mutation_p.P20L|GMPR2_ENST00000399440.2_Missense_Mutation_p.P2L|GMPR2_ENST00000559104.1_Missense_Mutation_p.P20L|GMPR2_ENST00000559836.1_Missense_Mutation_p.P2L|GMPR2_ENST00000348719.7_Missense_Mutation_p.P2L|GMPR2_ENST00000456667.3_Missense_Mutation_p.P2L			Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	2					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		AGCGCCATGCCTCATATTGAC	0.517													79	341					0	0	0	0	T	24702464	C	T	24702464	3	4	203	1	0	0	0	0	1	0	0	0	6548	681	24	4	61	4	GMPR2	14	24702464	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	814959	24702464	82647076	105	36407											
COCH	1690	broad.mit.edu	37	chr14	31348049	31348049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caactcagggggacctgtacGagtctatagcctacctggtc	9	9	11	12	1	2	0	1	0	1	0	3	2	2	1	3	3	4	1	3	3	5	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:31348049G>A	ENST00000396618.3	+	5	328	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	COCH_ENST00000216361.4_Missense_Mutation_p.R91Q|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000475087.1_Missense_Mutation_p.R91Q|RP11-829H16.3_ENST00000555108.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	91	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGACCTGTACGAGTCTATAGC	0.458													17	81					0	0	0	0	A	31348049	G	A	31348049	3	1	203	1	0	0	0	0	1	0	0	0	3686	1058	37	1	286	1	COCH	14	31348049	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	6645585	31348049	76001491	106	36408											
LTBP2	4053	broad.mit.edu	37	chr14	74968216	74968216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtagccctcccgcacgcGcacacagcggccattctcac	7	6	10	18	4	1	0	1	0	1	0	3	0	2	0	3	2	2	3	3	2	1	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:74968216G>A	ENST00000261978.4	-	35	5634	c.5248C>T	c.(5248-5250)Cgc>Tgc	p.R1750C	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1706C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1750	EGF-like 19; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCCCGCACGCGCACACAGCGG	0.617											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	169					0	0	0	0	A	74968216	G	A	74968216	3	1	203	1	0	0	0	0	1	0	0	0	9138	1087	38	1	225	1	LTBP2	14	74968216	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	43620167	74968216	32381324	107	36409											
NRXN3	9369	broad.mit.edu	37	chr14	79933641	79933641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgacaggcccagcacgCggtctgaccgccttgccgtg	7	6	12	16	4	1	2	0	2	1	0	1	2	1	2	5	2	2	1	5	2	1	1			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr14:79933641C>T	ENST00000281127.7	+	2	1204	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	NRXN3_ENST00000554719.1_Missense_Mutation_p.R741W|NRXN3_ENST00000557594.1_Missense_Mutation_p.R109W|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.R109W|NRXN3_ENST00000335750.5_Missense_Mutation_p.R741W	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	109	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane		p.R109W(1)|p.R741W(1)		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)		GCCCAGCACGCGGTCTGACCG	0.577													19	94					0	0	0	0	T	79933641	C	T	79933641	3	4	203	1	0	0	0	0	1	0	0	0	10738	759	27	1	2514	1	NRXN3	14	79933641	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	4965425	79933641	27415899	108	36410											
SORD	6652	broad.mit.edu	37	chr15	45353314	45353314	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccgagaaaatgatgaattCtgcaagatgggccgatacaa	15	7	10	9	2	1	4	0	2	1	2	1	6	1	4	3	1	2	1	3	1	6	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr15:45353314C>G	ENST00000267814.9	+	4	495	c.315C>G	c.(313-315)ttC>ttG	p.F105L	SORD_ENST00000558580.1_Missense_Mutation_p.F84L	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	105					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	ATGATGAATTCTGCAAGATGG	0.542													7	57					0	0	0	0	G	45353314	C	G	45353314	3	3	203	1	0	0	0	0	1	0	0	0	15021	912	32	2	329	2	SORD	15	45353314	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08		45353314	57178078	109	36411											
RNF111	54778	broad.mit.edu	37	chr15	59373425	59373425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccagcacagagactgcatCctcatgaagtgatgcagagg	12	7	11	11	0	1	4	1	2	0	2	3	5	3	4	2	1	3	3	2	1	1	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr15:59373425C>T	ENST00000348370.4	+	8	2672	c.2239C>T	c.(2239-2241)Cct>Tct	p.P747S	RNF111_ENST00000434298.1_Missense_Mutation_p.P747S|RNF111_ENST00000557998.1_Missense_Mutation_p.P747S|RNF111_ENST00000559209.1_Missense_Mutation_p.P747S|RNF111_ENST00000561186.1_Missense_Mutation_p.P747S	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	747	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GAGACTGCATCCTCATGAAGT	0.463													11	83					0	0	0	0	T	59373425	C	T	59373425	3	4	203	1	0	0	0	0	1	0	0	0	13510	855	30	2	2265	2	RNF111	15	59373425	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	14020111	59373425	43157967	110	36412											
THSD4	79875	broad.mit.edu	37	chr15	72030124	72030124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggagccaggaggagggaGaacagaaagggaggaacgag	16	0	20	5	1	0	2	0	0	0	2	0	9	0	7	1	6	3	1	1	6	3	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr15:72030124G>A	ENST00000355327.3	+	11	1818	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	THSD4_ENST00000261862.6_Missense_Mutation_p.E562K|THSD4_ENST00000357769.4_Missense_Mutation_p.E202K|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	562						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGAGGAGGGAGAACAGAAAGG	0.562													11	62					0	0	0	0	A	72030124	G	A	72030124	3	1	203	1	0	0	0	0	1	0	0	0	15972	943	33	2	1722	2	THSD4	15	72030124	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	12656699	72030124	30501268	111	36413											
SNRNP25	79622	broad.mit.edu	37	chr16	104045	104045	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggacccgctgctctgcgAtctgccgatccaggtgtgtg	5	9	14	13	3	2	0	0	0	2	0	3	3	3	1	3	2	3	3	3	2	0	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:104045A>G	ENST00000383018.3	+	1	217	c.56A>G	c.(55-57)gAt>gGt	p.D19G	SNRNP25_ENST00000493672.1_3'UTR	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	19					mRNA processing	U12-type spliceosomal complex				large_intestine(1)|lung(2)	3						CTGCTCTGCGATCTGCCGATC	0.701													5	22					0	0	0	0	G	104045	A	G	104045	3	3	203	1	0	0	0	0	1	0	0	0	14941	333	12	5	58	5	SNRNP25	16	104045	Missense_Mutation	SNP	A	TCGA-CR-7377-01A-11D-2012-08		104045	90250708	112	36414											
IGFALS	3483	broad.mit.edu	37	chr16	1842153	1842153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaggctgccggggggAcggacgagaggttgttgccg	6	7	20	8	4	1	1	0	0	1	1	1	5	1	4	2	7	2	3	2	7	1	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:1842153A>G	ENST00000415638.3	-	2	459	c.380T>C	c.(379-381)gTc>gCc	p.V127A	IGFALS_ENST00000568221.1_Missense_Mutation_p.S100P|IGFALS_ENST00000215539.3_Missense_Mutation_p.V89A	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	89					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						TGCCGGGGGGACGGACGAGAG	0.687													3	40					0	0	0	0	G	1842153	A	G	1842153	3	3	203	1	0	0	0	0	1	0	0	0	7630	275	10	5	1555	5	IGFALS	16	1842153	Missense_Mutation	SNP	A	TCGA-CR-7377-01A-11D-2012-08	1738108	1842153	88512600	113	36415											
DNAH3	55567	broad.mit.edu	37	chr16	20994156	20994156	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgtacagcaattgatcagCgaagggaacatccgcaggcg	13	6	12	10	4	1	1	1	1	0	0	3	3	2	2	1	2	4	3	1	2	4	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:20994156C>T	ENST00000261383.3	-	49	7745	c.7746G>A	c.(7744-7746)tcG>tcA	p.S2582S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2582	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATTGATCAGCGAAGGGAACA	0.483													13	78					0	0	0	0	T	20994156	C	T	20994156	2	4	203	1	0	0	0	0	0	0	0	1	4640	755	27	1		1	DNAH3	16	20994156	Silent	SNP	C	TCGA-CR-7377-01A-11D-2012-08	19152003	20994156	69360597	114	36416											
GDPD3	79153	broad.mit.edu	37	chr16	30124099	30124099	+	Silent	SNP	G	G	A																															tcgagctccaggaggtccgaGcgctgggccatggagctgtg																										TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:30124099G>A	ENST00000406256.3	-	3	575	c.198C>T	c.(196-198)cgC>cgT	p.R66R		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	66	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GGAGGTCCGAGCGCTGGGCCA	0.652											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	84					0	0	0	0	A	30124099	G	A	30124099	2	1	203	1	0	0	0	0	0	0	0	1	6376	958	34	4		4	GDPD3	16	30124099	Silent	SNP	G	TCGA-CR-7377-01A-11D-2012-08	9129943	30124099	60230654	115	36417	282	2									
GDPD3	79153	broad.mit.edu	37	chr16	30124100	30124100	+	Missense_Mutation	SNP	C	C	A																															cgagctccaggaggtccgagCgctgggccatggagctgtgg																										TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:30124100C>A	ENST00000406256.3	-	3	574	c.197G>T	c.(196-198)cGc>cTc	p.R66L		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	66	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GAGGTCCGAGCGCTGGGCCAT	0.652											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	82					3.59834e-05	4.31391e-05	1	0	A	30124100	C	A	30124100	3	1	203	1	0	0	0	0	1	0	0	0	6376	768	27	3	791	3	GDPD3	16	30124100	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	1	30124100	60230653	116	36418	282	2									
ITGAX	3687	broad.mit.edu	37	chr16	31383062	31383062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagccgagtccgagtccTcgggctgaaggcacactgtg	7	8	14	12	3	1	2	0	2	1	0	4	4	3	2	3	2	1	2	3	2	1	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:31383062T>C	ENST00000268296.4	+	17	2238	c.2117T>C	c.(2116-2118)cTc>cCc	p.L706P	ITGAX_ENST00000562522.1_Missense_Mutation_p.L706P	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	706					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTCCGAGTCCTCGGGCTGAAG	0.652													7	85					0	0	0	0	C	31383062	T	C	31383062	3	2	203	1	0	0	0	0	1	0	0	0	7942	1551	54	5	2183	5	ITGAX	16	31383062	Missense_Mutation	SNP	T	TCGA-CR-7377-01A-11D-2012-08	1258962	31383062	58971691	117	36419											
ABCC11	85320	broad.mit.edu	37	chr16	48226462	48226462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttgttgtgcagggccgtgGatgccttcctcgtgaccttg	3	13	14	11	2	0	1	0	1	0	0	2	2	1	2	4	2	2	3	4	2	0	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:48226462G>A	ENST00000394747.1	-	19	3024	c.2675C>T	c.(2674-2676)tCc>tTc	p.S892F	ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.S892F|ABCC11_ENST00000394748.1_Missense_Mutation_p.S892F|ABCC11_ENST00000356608.2_Missense_Mutation_p.S892F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	892	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CAGGGCCGTGGATGCCTTCCT	0.562													10	79					0	0	0	0	A	48226462	G	A	48226462	3	1	203	1	0	0	0	0	1	0	0	0	51	1174	41	2	1517	2	ABCC11	16	48226462	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	16843400	48226462	42128291	118	36420											
CDYL2	124359	broad.mit.edu	37	chr16	80638322	80638322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcctgcaggtagctgaaaAgggagtcaaggcctttggag	10	9	15	7	0	1	1	1	1	0	0	2	3	2	3	2	4	2	3	2	4	4	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:80638322A>G	ENST00000299564.8	-	7	1639	c.1484T>C	c.(1483-1485)cTt>cCt	p.L495P	CDYL2_ENST00000562812.1_Missense_Mutation_p.L496P|CDYL2_ENST00000563890.1_Missense_Mutation_p.L496P|CDYL2_ENST00000566173.1_Missense_Mutation_p.L496P	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	495						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GTAGCTGAAAAGGGAGTCAAG	0.552													3	129					0	0	0	0	G	80638322	A	G	80638322	3	3	203	1	0	0	0	0	1	0	0	0	3215	72	3	5	40	5	CDYL2	16	80638322	Missense_Mutation	SNP	A	TCGA-CR-7377-01A-11D-2012-08	32411860	80638322	9716431	119	36421											
ZNF276	92822	broad.mit.edu	37	chr16	89789017	89789017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagaagcctgcgcagcatctCcgagagggcgcctggagcga	9	4	16	12	4	1	2	0	0	1	2	2	6	1	3	3	2	4	2	3	2	1	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr16:89789017C>T	ENST00000289816.5	+	2	371	c.59C>T	c.(58-60)tCc>tTc	p.S20F	ZNF276_ENST00000443381.2_Missense_Mutation_p.S95F|ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000568064.1_Missense_Mutation_p.S20F	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CGCAGCATCTCCGAGAGGGCG	0.667													10	94					0	0	0	0	T	89789017	C	T	89789017	3	4	203	1	0	0	0	0	1	0	0	0	17906	855	30	2	290	2	ZNF276	16	89789017	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	9150695	89789017	565736	120	36422											
CAMTA2	23125	broad.mit.edu	37	chr17	4873662	4873662	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttgagctggggaaatggTccacattctccaggtagctg	8	10	15	8	0	1	1	0	1	1	0	3	2	2	2	2	5	2	4	2	5	2	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:4873662T>C	ENST00000361571.5	-	16	3386	c.2975A>G	c.(2974-2976)gAc>gGc	p.D992G	CAMTA2_ENST00000381311.5_Missense_Mutation_p.D995G|CAMTA2_ENST00000358183.4_Missense_Mutation_p.D993G|CAMTA2_ENST00000572543.1_Missense_Mutation_p.D998G|CAMTA2_ENST00000348066.3_Missense_Mutation_p.D993G|CAMTA2_ENST00000414043.3_Missense_Mutation_p.D1016G	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	993					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGGGAAATGGTCCACATTCTC	0.602													3	108					0	0	0	0	C	4873662	T	C	4873662	3	2	203	1	0	0	0	0	1	0	0	0	2639	1667	58	5	708	5	CAMTA2	17	4873662	Missense_Mutation	SNP	T	TCGA-CR-7377-01A-11D-2012-08		4873662	76321548	121	36423											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	3	14	11	13	1	0	0	0	0	0	0	3	0	2	0	3	2	4	5	3	2	2	4	rs121913344		TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	75					0	0	0	0	A	7577022	G	A	7577022	4	1	203	1	0	0	0	0	0	1	0	0	16476	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	2703360	7577022	73618188	122	36424											
MYCBPAP	84073	broad.mit.edu	37	chr17	48597049	48597049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactggaatacttgggagatGagatgacaggtctggtcatg	11	10	15	5	0	2	3	1	2	1	2	2	7	2	4	0	4	1	0	0	4	2	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:48597049G>A	ENST00000323776.5	+	7	1108	c.946G>A	c.(946-948)Gag>Aag	p.E316K	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E279K|MYCBPAP_ENST00000468821.1_3'UTR	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	279					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CTTGGGAGATGAGATGACAGG	0.547													7	44					0	0	0	0	A	48597049	G	A	48597049	3	1	203	1	0	0	0	0	1	0	0	0	10089	1291	45	2	972	2	MYCBPAP	17	48597049	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	41020027	48597049	32598161	123	36425											
CA10	56934	broad.mit.edu	37	chr17	49825158	49825158	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggatacgtgtcttccagtGttgtacatggtcccactgac	8	12	11	10	1	1	1	0	1	1	0	3	2	3	2	2	2	2	2	2	2	2	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:49825158G>A	ENST00000451037.2	-	4	1240	c.300C>T	c.(298-300)aaC>aaT	p.N100N	CA10_ENST00000340813.6_Silent_p.N106N|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000285273.4_Silent_p.N100N|CA10_ENST00000570565.1_Silent_p.N25N|CA10_ENST00000442502.2_Silent_p.N100N	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	100					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GTCTTCCAGTGTTGTACATGG	0.542													11	81					0	0	0	0	A	49825158	G	A	49825158	2	1	203	1	0	0	0	0	0	0	0	1	2536	1368	48	4		4	CA10	17	49825158	Silent	SNP	G	TCGA-CR-7377-01A-11D-2012-08	1228109	49825158	31370052	124	36426											
INTS2	57508	broad.mit.edu	37	chr17	59972740	59972740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaggagcttggcttaattAcaatctaaaattaccaaaag	17	11	6	7	0	2	0	1	0	1	0	2	1	2	1	1	2	3	2	1	2	9	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:59972740A>G	ENST00000444766.3	-	12	1598	c.1523T>C	c.(1522-1524)gTa>gCa	p.V508A	INTS2_ENST00000251334.6_Missense_Mutation_p.V500A	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	508					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGGCTTAATTACAATCTAAAA	0.294													4	15					0	0	0	0	G	59972740	A	G	59972740	3	3	203	1	0	0	0	0	1	0	0	0	7831	391	14	5	2147	5	INTS2	17	59972740	Missense_Mutation	SNP	A	TCGA-CR-7377-01A-11D-2012-08	10147582	59972740	21222470	125	36427											
MRC2	9902	broad.mit.edu	37	chr17	60749025	60749025	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacaggtgggccaatgTgaaggtggagtgcgagccga	10	6	18	7	2	0	2	0	1	0	1	0	5	0	3	2	4	3	1	2	4	2	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr17:60749025T>A	ENST00000303375.5	+	7	1535	c.1133T>A	c.(1132-1134)gTg>gAg	p.V378E		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	378					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGGGCCAATGTGAAGGTGGAG	0.632													6	42					0	0	0	0	A	60749025	T	A	60749025	3	1	203	1	0	0	0	0	1	0	0	0	9828	1696	59	5	1159	5	MRC2	17	60749025	Missense_Mutation	SNP	T	TCGA-CR-7377-01A-11D-2012-08	776285	60749025	20446185	126	36428											
DENND1C	79958	broad.mit.edu	37	chr19	6476960	6476960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgtcagtcacggccaccaCcagctccgttaggttcctct	6	10	8	17	3	3	0	2	0	1	0	6	0	5	0	5	2	1	3	5	2	1	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:6476960C>T	ENST00000381480.2	-	10	698	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	DENND1C_ENST00000543576.1_Missense_Mutation_p.V152M	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	196	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						ACGGCCACCACCAGCTCCGTT	0.642													12	40					0	0	0	0	T	6476960	C	T	6476960	3	4	203	1	0	0	0	0	1	0	0	0	4465	507	18	4	1875	4	DENND1C	19	6476960	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08		6476960	52652023	127	36429											
ZNF177	7730	broad.mit.edu	37	chr19	9489013	9489013	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggtggctgacaacctGgtcacaggtacacaagaaat	13	7	12	9	0	1	2	1	1	0	1	1	2	1	2	1	4	3	3	1	4	4	1			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:9489013G>C	ENST00000446085.4	+	6	558	c.26G>C	c.(25-27)tGg>tCg	p.W9S	ZNF177_ENST00000590616.1_Missense_Mutation_p.W9S|ZNF177_ENST00000343499.4_Missense_Mutation_p.W9S|ZNF177_ENST00000434737.2_Missense_Mutation_p.W9S|ZNF177_ENST00000605471.1_3'UTR|ZNF177_ENST00000589262.1_Missense_Mutation_p.W9S|ZNF177_ENST00000541595.2_Missense_Mutation_p.W9S|ZNF177_ENST00000602738.1_Missense_Mutation_p.W9S|ZNF177_ENST00000602856.1_Missense_Mutation_p.W9S			Q13360	ZN177_HUMAN	zinc finger protein 177	9					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CTGACAACCTGGTCACAGGTA	0.507													4	52					0	0	0	0	C	9489013	G	C	9489013	3	2	203	1	0	0	0	0	1	0	0	0	17841	1357	47	4	28	4	ZNF177	19	9489013	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	3012053	9489013	49639970	128	36430											
FARSA	2193	broad.mit.edu	37	chr19	13035607	13035607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatggagaagtacttgacCggagtgaagggcttctaggg	10	9	16	6	2	1	3	0	2	1	1	2	6	1	4	1	4	1	2	1	4	4	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:13035607C>T	ENST00000588025.1	-	11	1301	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P	FARSA_ENST00000314606.4_Silent_p.P347P|FARSA_ENST00000423140.2_Silent_p.P316P			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	347					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	AGTACTTGACCGGAGTGAAGG	0.632													12	161					0	0	0	0	T	13035607	C	T	13035607	2	4	203	1	0	0	0	0	0	0	0	1	5724	639	23	1		1	FARSA	19	13035607	Silent	SNP	C	TCGA-CR-7377-01A-11D-2012-08	3546594	13035607	46093376	129	36431											
ASF1B	55723	broad.mit.edu	37	chr19	14247232	14247232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggaaagggctcgggttctCcaggaccgccacgttcagca	8	7	14	12	3	2	0	1	0	1	0	4	2	2	2	3	4	1	4	3	4	1	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:14247232C>T	ENST00000263382.3	-	1	536	c.37G>A	c.(37-39)Gag>Aag	p.E13K	ASF1B_ENST00000592798.1_Missense_Mutation_p.E13K|ASF1B_ENST00000474890.1_Missense_Mutation_p.E13K	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	13	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CTCGGGTTCTCCAGGACCGCC	0.716													13	49					0	0	0	0	T	14247232	C	T	14247232	3	4	203	1	0	0	0	0	1	0	0	0	1042	864	30	2	587	2	ASF1B	19	14247232	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	1211625	14247232	44881751	130	36432											
ZNF676	163223	broad.mit.edu	37	chr19	22363559	22363559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttcagtaaggcttgaggaCcagctgaaggctttgccaca	10	10	12	9	0	1	2	1	2	0	0	1	3	1	3	2	3	2	5	2	3	2	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:22363559C>G	ENST00000397121.2	-	3	1277	c.960G>C	c.(958-960)tgG>tgC	p.W320C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGCTTGAGGACCAGCTGAAGG	0.433													11	105					0	0	0	0	G	22363559	C	G	22363559	3	3	203	1	0	0	0	0	1	0	0	0	18178	508	18	4	810	4	ZNF676	19	22363559	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	8116327	22363559	36765424	131	36433											
ZNF99	7652	broad.mit.edu	37	chr19	22939799	22939799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attatcttatgtttcctaagGgctgagaaattgctaaaagc	13	14	8	6	0	1	1	0	1	1	1	2	2	2	1	1	1	2	3	1	1	6	6			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:22939799G>A	ENST00000397104.3	-	6	2531	c.2532C>T	c.(2530-2532)gcC>gcT	p.A844A						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTTCCTAAGGGCTGAGAAAT	0.348													13	86					0	0	0	0	A	22939799	G	A	22939799	2	1	203	1	0	0	0	0	0	0	0	1	18297	1219	43	4		4	ZNF99	19	22939799	Silent	SNP	G	TCGA-CR-7377-01A-11D-2012-08	576240	22939799	36189184	132	36434											
WTIP	126374	broad.mit.edu	37	chr19	34984493	34984493	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcccttcaccgtggacgtgGagaacaacatctactgcgtg	9	10	10	12	3	2	1	1	0	1	1	3	3	3	2	2	2	4	0	2	2	3	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:34984493G>T	ENST00000590071.2	+	5	1334	c.997G>T	c.(997-999)Gag>Tag	p.E333*	WTIP_ENST00000270288.6_Nonsense_Mutation_p.E557*	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGTGGACGTGGAGAACAACAT	0.617													11	99					0.00829132	0.00950798	1	0	T	34984493	G	T	34984493	4	4	203	1	0	0	0	0	0	1	0	0	17506	1175	41	2	1015	2	WTIP	19	34984493	Nonsense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	12044694	34984493	24144490	133	36435											
HNRNPL	3191	broad.mit.edu	37	chr19	39336375	39336375	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagatagtgtaaagaacatCctgcaaaagcaaacacaggc	19	5	8	9	0	0	2	0	0	0	2	1	2	1	2	1	1	4	3	1	1	7	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:39336375C>A	ENST00000221419.5	-	4	991	c.624_splice	c.e4-1	p.D209_splice	HNRNPL_ENST00000600873.1_Splice_Site_p.D76_splice	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	209	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TAAAGAACATCCTGCAAAAGC	0.478													5	59					0.000602214	0.000702029	1	0	A	39336375	C	A	39336375	5	1	203	1	0	0	0	0	0	0	1	0	7320	869	30	2	1184	2	HNRNPL	19	39336375	Splice_Site	SNP	C	TCGA-CR-7377-01A-11D-2012-08	4351882	39336375	19792608	134	36436											
STRN4	29888	broad.mit.edu	37	chr19	47226075	47226075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcccccttaccgctgctgCcccgggactccagcgtgagg	5	6	12	18	3	0	1	0	1	0	0	1	2	1	2	6	2	5	2	6	2	1	1			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr19:47226075C>T	ENST00000391910.3	-	14	2369	c.1919G>A	c.(1918-1920)gGc>gAc	p.G640D	STRN4_ENST00000539396.1_Missense_Mutation_p.G514D|STRN4_ENST00000263280.6_Missense_Mutation_p.G633D			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	633						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ACCGCTGCTGCCCCGGGACTC	0.627													23	134					0	0	0	0	T	47226075	C	T	47226075	3	4	203	1	0	0	0	0	1	0	0	0	15421	739	26	4	379	4	STRN4	19	47226075	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	7889700	47226075	11902908	135	36437											
ENTPD6	955	broad.mit.edu	37	chr20	25188018	25188018	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtacacgtcttccagttcAcccggccccccagaggtacc	8	7	9	17	2	2	1	1	0	1	1	3	2	3	1	6	2	2	3	6	2	2	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr20:25188018A>C	ENST00000360031.2	+	3	540	c.358A>C	c.(358-360)Acc>Ccc	p.T120P	ENTPD6_ENST00000433259.2_Missense_Mutation_p.T121P|ENTPD6_ENST00000354989.5_Missense_Mutation_p.T104P|ENTPD6_ENST00000376652.4_Missense_Mutation_p.T121P	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	121						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	p.T121P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CTTCCAGTTCACCCGGCCCCC	0.642													9	49					0	0	0	0	C	25188018	A	C	25188018	3	2	203	1	0	0	0	0	1	0	0	0	5181	159	6	5	374	5	ENTPD6	20	25188018	Missense_Mutation	SNP	A	TCGA-CR-7377-01A-11D-2012-08		25188018	37837502	136	36438											
NINL	22981	broad.mit.edu	37	chr20	25456758	25456758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaagtttggtttccatgtCatccttctctctctccagcg	6	16	7	12	1	3	1	1	0	2	1	8	1	6	1	3	1	1	2	3	1	2	4			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr20:25456758C>T	ENST00000278886.6	-	17	3242	c.3169G>A	c.(3169-3171)Gac>Aac	p.D1057N	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1057					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTTTCCATGTCATCCTTCTCT	0.532													33	108					0	0	0	0	T	25456758	C	T	25456758	3	4	203	1	0	0	0	0	1	0	0	0	10490	826	29	2	1011	2	NINL	20	25456758	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	268740	25456758	37568762	137	36439											
ZNF334	55713	broad.mit.edu	37	chr20	45131154	45131154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgaggcttgtcttcacaCgaaaagttttcctacaatca	12	12	8	9	1	3	1	2	1	1	0	4	3	4	1	1	1	1	2	1	1	4	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr20:45131154C>T	ENST00000457685.2	-	6	2033	c.710G>A	c.(709-711)cGt>cAt	p.R237H	ZNF334_ENST00000593880.1_Missense_Mutation_p.R298H|ZNF334_ENST00000347606.4_Missense_Mutation_p.R275H			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTCTTCACACGAAAAGTTTT	0.413													15	113					0	0	0	0	T	45131154	C	T	45131154	3	4	203	1	0	0	0	0	1	0	0	0	17946	536	19	1	1222	1	ZNF334	20	45131154	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	19674396	45131154	17894366	138	36440											
ZNF831	128611	broad.mit.edu	37	chr20	57767313	57767313	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcatcgcccagctcatctcCcacaaccaggcggtggtgga	8	6	11	16	3	2	0	1	0	1	0	4	1	2	1	3	4	2	2	3	4	1	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr20:57767313C>T	ENST00000371030.2	+	1	1239	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	413						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGCTCATCTCCCACAACCAGG	0.711													5	17					0	0	0	0	T	57767313	C	T	57767313	2	4	203	1	0	0	0	0	0	0	0	1	18278	610	22	4		4	ZNF831	20	57767313	Silent	SNP	C	TCGA-CR-7377-01A-11D-2012-08	12636159	57767313	5258207	139	36441											
CCT8L2	150160	broad.mit.edu	37	chr22	17072462	17072462	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgtccaacacctcacTcaggtaaatgatctccatcc	11	10	7	13	0	3	1	2	1	1	0	6	1	5	1	4	2	1	1	4	2	3	1			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr22:17072462T>A	ENST00000359963.3	-	1	1238	c.979A>T	c.(979-981)Agt>Tgt	p.S327C		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	327					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AACACCTCACTCAGGTAAATG	0.577													28	221					0	0	0	0	A	17072462	T	A	17072462	3	1	203	1	0	0	0	0	1	0	0	0	2990	1551	54	5	698	5	CCT8L2	22	17072462	Missense_Mutation	SNP	T	TCGA-CR-7377-01A-11D-2012-08		17072462	34232104	140	36442											
LZTR1	8216	broad.mit.edu	37	chr22	21348279	21348279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctggcttcgcaggaagAtcacgcaggcgcgggagagg	8	4	18	11	5	1	2	1	0	0	2	2	4	1	3	1	5	0	4	1	5	1	1			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr22:21348279A>G	ENST00000215739.8	+	13	1779	c.1420A>G	c.(1420-1422)Atc>Gtc	p.I474V	LZTR1_ENST00000389355.3_Missense_Mutation_p.I455V|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	474	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCGCAGGAAGATCACGCAGGC	0.647													6	31					0	0	0	0	G	21348279	A	G	21348279	3	3	203	1	0	0	0	0	1	0	0	0	9202	333	12	5	1470	5	LZTR1	22	21348279	Missense_Mutation	SNP	A	TCGA-CR-7377-01A-11D-2012-08	4275817	21348279	29956287	141	36443											
AP1B1	162	broad.mit.edu	37	chr22	29754833	29754833	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctgctgtcttgcgcacaTatggatcctcgtccttcagg	6	12	10	13	2	2	0	1	0	1	0	5	1	4	1	2	2	3	3	2	2	1	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr22:29754833T>A	ENST00000357586.2	-	5	593	c.407A>T	c.(406-408)tAt>tTt	p.Y136F	AP1B1_ENST00000415447.1_Missense_Mutation_p.Y136F|AP1B1_ENST00000356015.2_Missense_Mutation_p.Y136F|AP1B1_ENST00000402502.1_Missense_Mutation_p.Y136F|AP1B1_ENST00000405198.1_Missense_Mutation_p.Y136F|AP1B1_ENST00000317368.7_Missense_Mutation_p.Y136F|AP1B1_ENST00000432560.2_Missense_Mutation_p.Y136F	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	136					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTTGCGCACATATGGATCCTC	0.602													11	40					0	0	0	0	A	29754833	T	A	29754833	3	1	203	1	0	0	0	0	1	0	0	0	732	1406	49	5	2518	5	AP1B1	22	29754833	Missense_Mutation	SNP	T	TCGA-CR-7377-01A-11D-2012-08	8406554	29754833	21549733	142	36444											
MPPED1	758	broad.mit.edu	37	chr22	43830954	43830954	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgtcatctctccctgcagGgtggacccggtgcctcacga	6	9	12	14	2	3	0	2	0	1	0	5	2	4	1	3	3	2	1	3	3	0	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr22:43830954G>A	ENST00000414469.2	+	0	146				MPPED1_ENST00000542779.1_Splice_Site_p.M75_splice|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000417669.1_Splice_Site_p.M75_splice|MPPED1_ENST00000443721.1_Splice_Site_p.M75_splice|MPPED1_ENST00000538182.1_Splice_Site_p.M108_splice			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CTCCCTGCAGGGTGGACCCGG	0.647													15	150					0	0	0	0	A	43830954	G	A	43830954	1	1	203	1	0	0	0	0	0	0	0	0	9811	1246	43	4		4	MPPED1	22	43830954	Translation_Start_Site	SNP	G	TCGA-CR-7377-01A-11D-2012-08	14076121	43830954	7473612	143	36445											
PLXNB2	23654	broad.mit.edu	37	chr22	50720046	50720046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttctgccgccgcttgggCgggggctgcacctccggggg	1	8	18	14	5	1	0	0	0	1	0	2	0	2	0	4	5	2	4	4	5	0	2			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chr22:50720046C>T	ENST00000449103.1	-	21	3611	c.3471G>A	c.(3469-3471)ccG>ccA	p.P1157P	PLXNB2_ENST00000359337.4_Silent_p.P1157P			O15031	PLXB2_HUMAN	plexin B2	1157					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGCTTGGGCGGGGGCTGCA	0.692													10	67					0	0	0	0	T	50720046	C	T	50720046	2	4	203	1	0	0	0	0	0	0	0	1	12196	755	27	1		1	PLXNB2	22	50720046	Silent	SNP	C	TCGA-CR-7377-01A-11D-2012-08	6889092	50720046	584520	144	36446											
ALAS2	212	broad.mit.edu	37	chrX	55042039	55042039	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagagatgatgtcaatcttAtgcataattccatcacgctc	12	12	6	11	1	3	2	2	1	1	1	5	3	4	2	2	0	1	2	2	0	3	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chrX:55042039A>C	ENST00000330807.5	-	8	1277	c.1140T>G	c.(1138-1140)caT>caG	p.H380Q	ALAS2_ENST00000335854.4_Missense_Mutation_p.H343Q|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.H367Q	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	380					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TGTCAATCTTATGCATAATTC	0.517													10	39					0	0	0	0	C	55042039	A	C	55042039	3	2	203	1	0	0	0	0	1	0	0	0	485	446	16	5	639	5	ALAS2	23	55042039	Missense_Mutation	SNP	A	TCGA-CR-7377-01A-11D-2012-08		55042039	100228521	145	36447											
TAF1	6872	broad.mit.edu	37	chrX	70604857	70604857	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactgtttactgccatacAtctcctttcctgggttctct	7	16	6	12	0	2	0	0	0	2	0	5	1	3	0	3	1	4	2	3	1	3	5			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chrX:70604857A>G	ENST00000449580.1	+	14	2232	c.2181A>G	c.(2179-2181)acA>acG	p.T727T	TAF1_ENST00000276072.3_Silent_p.T748T|TAF1_ENST00000373790.4_Silent_p.T727T|TAF1_ENST00000423759.1_Silent_p.T748T			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	727					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACTGCCATACATCTCCTTTCC	0.393													11	38					0	0	0	0	G	70604857	A	G	70604857	2	3	203	1	0	0	0	0	0	0	0	1	15604	204	8	5		5	TAF1	23	70604857	Silent	SNP	A	TCGA-CR-7377-01A-11D-2012-08	15562818	70604857	84665703	146	36448											
RGAG1	57529	broad.mit.edu	37	chrX	109696314	109696314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatgtctgctccacaaatGacagccacagcctctggaat	11	8	8	14	0	2	1	0	1	2	0	3	2	3	2	4	1	3	1	4	1	2	0			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chrX:109696314G>A	ENST00000465301.2	+	3	2715	c.2469G>A	c.(2467-2469)atG>atA	p.M823I	RGAG1_ENST00000540313.1_Missense_Mutation_p.M823I	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	823										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTCCACAAATGACAGCCACAG	0.532													31	91					0	0	0	0	A	109696314	G	A	109696314	3	1	203	1	0	0	0	0	1	0	0	0	13356	1290	45	2	2471	2	RGAG1	23	109696314	Missense_Mutation	SNP	G	TCGA-CR-7377-01A-11D-2012-08	39091457	109696314	45574246	147	36449											
ATP11C	286410	broad.mit.edu	37	chrX	138886713	138886713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgatagaagaataagatCacagggaaaggtttcatctg	17	9	11	4	0	3	5	2	1	1	4	3	6	3	6	0	2	0	1	0	2	5	3			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chrX:138886713C>A	ENST00000370557.1	-	6	1499	c.472G>T	c.(472-474)Gat>Tat	p.D158Y	ATP11C_ENST00000327569.3_Missense_Mutation_p.D161Y|ATP11C_ENST00000361648.2_Missense_Mutation_p.D161Y|ATP11C_ENST00000370543.1_Missense_Mutation_p.D161Y|ATP11C_ENST00000359686.2_Missense_Mutation_p.D161Y			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	161					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGAATAAGATCACAGGGAAAG	0.368													17	81					1.56452e-12	1.95334e-12	1	0	A	138886713	C	A	138886713	3	1	203	1	0	0	0	0	1	0	0	0	1125	826	29	2	3080	2	ATP11C	23	138886713	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	29190399	138886713	16383847	148	36450											
SLITRK2	84631	broad.mit.edu	37	chrX	144904539	144904539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctaaaagtaatgccttttgCtggcgtccttgaacatattg	10	14	9	8	1	0	1	0	1	0	0	1	1	1	1	2	1	3	3	2	1	5	7			TCGA-CR-7377-01A-11D-2012-08	TCGA-CR-7377-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93e4eb9a-7643-411b-be90-94b801f23566	93f4434d-0de9-466f-a47f-6b774b51c44e	g.chrX:144904539C>T	ENST00000370490.1	+	1	4851	c.596C>T	c.(595-597)gCt>gTt	p.A199V	SLITRK2_ENST00000428560.2_Missense_Mutation_p.A199V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.A199V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.A199V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.A199V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	199						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCTTTTGCTGGCGTCCTT	0.483													22	79					0	0	0	0	T	144904539	C	T	144904539	3	4	203	1	0	0	0	0	1	0	0	0	14831	797	28	4	598	4	SLITRK2	23	144904539	Missense_Mutation	SNP	C	TCGA-CR-7377-01A-11D-2012-08	6017826	144904539	10366021	149	36451											
HSPG2	3339	broad.mit.edu	37	chr1	22173889	22173889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacggagatgacgatggAggcctccagggcatcgatgt	10	6	17	8	3	0	3	0	1	0	2	2	8	1	4	2	5	0	1	2	5	0	0			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:22173889A>G	ENST00000374695.3	-	62	8201	c.8122T>C	c.(8122-8124)Tcc>Ccc	p.S2708P	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2708	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATGACGATGGAGGCCTCCAGG	0.627													3	99					0	0	0	0	G	22173889	A	G	22173889	3	3	204	1	0	0	0	0	1	0	0	0	7483	304	11	5	5197	5	HSPG2	1	22173889	Missense_Mutation	SNP	A	TCGA-CR-7379-01A-11D-2012-08		22173889	227076732	1	36452											
SYTL1	84958	broad.mit.edu	37	chr1	27676942	27676942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagacggcggtgaagaaacGgaatctgaatccggttttca	13	8	12	8	4	2	4	1	2	1	2	3	5	3	5	1	4	1	1	1	4	5	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:27676942G>A	ENST00000543823.1	+	9	1433	c.971G>A	c.(970-972)cGg>cAg	p.R324Q	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.R312Q			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	324	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	p.R312Q(1)		NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTGAAGAAACGGAATCTGAAT	0.602													42	56					0	0	0	0	A	27676942	G	A	27676942	3	1	204	1	0	0	0	0	1	0	0	0	15573	1116	39	1	969	1	SYTL1	1	27676942	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	5503053	27676942	221573679	2	36453											
PTPRU	10076	broad.mit.edu	37	chr1	29650167	29650167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaggggcacctgctggtgCggcacttccagttcctgcgc	5	8	15	13	2	0	0	0	0	0	0	2	1	2	1	3	5	3	4	3	5	0	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:29650167C>T	ENST00000356870.3	+	29	4107	c.3997C>T	c.(3997-3999)Cgg>Tgg	p.R1333W	PTPRU_ENST00000345512.3_Missense_Mutation_p.R1337W|PTPRU_ENST00000460170.2_Missense_Mutation_p.R1331W|PTPRU_ENST00000428026.2_Missense_Mutation_p.R1324W|PTPRU_ENST00000373779.3_Missense_Mutation_p.R1327W|PTPRU_ENST00000323874.8_Missense_Mutation_p.R1333W	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1337	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCTGCTGGTGCGGCACTTCCA	0.642													31	26					0	0	0	0	T	29650167	C	T	29650167	3	4	204	1	0	0	0	0	1	0	0	0	12895	759	27	1	4145	1	PTPRU	1	29650167	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	1973225	29650167	219600454	3	36454											
PTPRF	5792	broad.mit.edu	37	chr1	44085815	44085815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctctggcagagagcaccGaggacttctggcgcatgcta	8	7	14	12	2	2	1	0	0	2	1	2	4	2	2	2	4	2	4	2	4	1	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:44085815G>A	ENST00000359947.4	+	30	5501	c.5161G>A	c.(5161-5163)Gag>Aag	p.E1721K	PTPRF_ENST00000438120.1_Missense_Mutation_p.E1712K|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1712K|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1721K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1080K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1721	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.E1711Q(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGAGAGCACCGAGGACTTCTG	0.592													70	60					0	0	0	0	A	44085815	G	A	44085815	3	1	204	1	0	0	0	0	1	0	0	0	12883	1059	37	1	5271	1	PTPRF	1	44085815	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	14435648	44085815	205164806	4	36455											
NTNG1	22854	broad.mit.edu	37	chr1	107691215	107691215	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagattacaaagaatttagaGatgtatttgtcaagattcct	16	14	7	4	0	1	4	1	0	0	4	2	5	2	4	1	0	1	1	1	0	7	6			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:107691215G>A	ENST00000370067.1	+	0	627				NTNG1_ENST00000370072.3_De_novo_Start_InFrame|NTNG1_ENST00000370073.2_De_novo_Start_InFrame|NTNG1_ENST00000370074.4_De_novo_Start_InFrame|NTNG1_ENST00000370070.2_De_novo_Start_InFrame|NTNG1_ENST00000370061.3_De_novo_Start_InFrame|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370071.2_De_novo_Start_InFrame|NTNG1_ENST00000542803.1_De_novo_Start_InFrame|NTNG1_ENST00000370068.1_De_novo_Start_InFrame			Q9Y2I2	NTNG1_HUMAN	netrin G1						axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGAATTTAGAGATGTATTTGT	0.383													41	45					0	0	0	0	A	107691215	G	A	107691215	1	1	204	1	0	0	0	0	0	0	0	0	10775	957	33	2		2	NTNG1	1	107691215	Translation_Start_Site	SNP	G	TCGA-CR-7379-01A-11D-2012-08	63605400	107691215	141559406	5	36456											
DDX20	11218	broad.mit.edu	37	chr1	112303130	112303130	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatagaacttgactacttGaacccaggcagtatacgcct	12	10	7	12	1	1	3	1	2	0	1	1	3	1	3	2	1	4	2	2	1	6	6			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:112303130G>A	ENST00000369702.4	+	4	1220	c.600G>A	c.(598-600)ttG>ttA	p.L200L	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	200	Helicase ATP-binding.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGACTACTTGAACCCAGGCA	0.313													56	64					0	0	0	0	A	112303130	G	A	112303130	2	1	204	1	0	0	0	0	0	0	0	1	4380	1281	45	2		2	DDX20	1	112303130	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	4611915	112303130	136947491	6	36457											
MAGI3	260425	broad.mit.edu	37	chr1	114215339	114215339	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacaccgcagtaatttcAgttgtaggcagtcggcacaa	11	9	10	11	2	1	1	1	1	0	0	2	1	1	1	2	2	0	6	2	2	3	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:114215339A>G	ENST00000369615.1	+	18	3083	c.3021A>G	c.(3019-3021)tcA>tcG	p.S1007S	MAGI3_ENST00000369617.4_Silent_p.S1032S|MAGI3_ENST00000369611.4_Silent_p.S1007S|MAGI3_ENST00000307546.9_Silent_p.S1007S	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1032					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTAATTTCAGTTGTAGGCA	0.448													4	261					0	0	0	0	G	114215339	A	G	114215339	2	3	204	1	0	0	0	0	0	0	0	1	9261	175	7	5		5	MAGI3	1	114215339	Silent	SNP	A	TCGA-CR-7379-01A-11D-2012-08	1912209	114215339	135035282	7	36458											
PEX11B	8799	broad.mit.edu	37	chr1	145522726	145522726	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcggctgcaagtcctgcTcctggctcgagtccttagag	6	11	11	13	2	0	1	0	0	0	1	5	2	3	1	3	2	2	4	3	2	2	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:145522726T>G	ENST00000369306.3	+	4	736	c.587T>G	c.(586-588)cTc>cGc	p.L196R	PEX11B_ENST00000537888.1_Missense_Mutation_p.L182R	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	196					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAAGTCCTGCTCCTGGCTCGA	0.582													3	92					0	0	0	0	G	145522726	T	G	145522726	3	3	204	1	0	0	0	0	1	0	0	0	11810	1551	54	5	619	5	PEX11B	1	145522726	Missense_Mutation	SNP	T	TCGA-CR-7379-01A-11D-2012-08	31307387	145522726	103727895	8	36459											
RPRD2	23248	broad.mit.edu	37	chr1	150445676	150445676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtataatcttacggagtcccCggccagactttcggcctagg	8	10	11	12	3	1	1	0	0	1	1	3	2	2	2	4	4	1	1	4	4	4	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:150445676C>T	ENST00000401000.4	+	10	4239	c.4174C>T	c.(4174-4176)Cgg>Tgg	p.R1392W	RPRD2_ENST00000369068.4_Missense_Mutation_p.R1418W|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1418	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACGGAGTCCCCGGCCAGACTT	0.582													76	47					0	0	0	0	T	150445676	C	T	150445676	3	4	204	1	0	0	0	0	1	0	0	0	13702	643	23	1	4294	1	RPRD2	1	150445676	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	4922950	150445676	98804945	9	36460											
ATP1A4	480	broad.mit.edu	37	chr1	160141474	160141474	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctttgttttgtgggccTcatatccatgattgaccctc	7	15	7	12	0	1	2	1	2	0	0	3	2	2	2	4	1	1	1	4	1	2	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:160141474T>C	ENST00000368081.4	+	12	2252	c.1781T>C	c.(1780-1782)cTc>cCc	p.L594P	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	594					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTGTGGGCCTCATATCCATG	0.488													3	192					0	0	0	0	C	160141474	T	C	160141474	3	2	204	1	0	0	0	0	1	0	0	0	1135	1551	54	5	1827	5	ATP1A4	1	160141474	Missense_Mutation	SNP	T	TCGA-CR-7379-01A-11D-2012-08	9695798	160141474	89109147	10	36461											
SELP	6403	broad.mit.edu	37	chr1	169580906	169580906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggcttccaggtgctgaCactgcacagctggagagaat	9	8	15	9	0	0	2	0	1	0	1	1	4	1	3	1	4	3	4	1	4	1	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:169580906C>T	ENST00000263686.6	-	7	1008	c.971G>A	c.(970-972)tGt>tAt	p.C324Y	SELP_ENST00000367794.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.C262Y|SELP_ENST00000367793.2_Missense_Mutation_p.C262Y|SELP_ENST00000367792.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	324	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAGGTGCTGACACTGCACAGC	0.507													54	61					0	0	0	0	T	169580906	C	T	169580906	3	4	204	1	0	0	0	0	1	0	0	0	14106	478	17	4	1561	4	SELP	1	169580906	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	9439432	169580906	79669715	11	36462											
METTL13	51603	broad.mit.edu	37	chr1	171753042	171753042	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttgaagatggacatgAcgcagatggagtttcctgat	10	12	12	7	1	1	5	0	3	1	2	2	7	2	7	1	2	0	3	1	2	1	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:171753042A>C	ENST00000361735.3	+	2	582	c.316A>C	c.(316-318)Acg>Ccg	p.T106P	METTL13_ENST00000367737.5_Missense_Mutation_p.T106P|METTL13_ENST00000458517.1_Missense_Mutation_p.T105P|METTL13_ENST00000362019.3_Missense_Mutation_p.T20P	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	106							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GATGGACATGACGCAGATGGA	0.502													42	32					0	0	0	0	C	171753042	A	C	171753042	3	2	204	1	0	0	0	0	1	0	0	0	9566	275	10	5	322	5	METTL13	1	171753042	Missense_Mutation	SNP	A	TCGA-CR-7379-01A-11D-2012-08	2172136	171753042	77497579	12	36463											
SPATA17	128153	broad.mit.edu	37	chr1	217856693	217856693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcgtttcagagaccaatGatgcaattaggtaagtagtg	14	11	11	5	1	1	2	1	1	0	1	2	3	1	2	1	1	1	4	1	1	6	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr1:217856693G>T	ENST00000366933.4	+	5	440	c.385G>T	c.(385-387)Gat>Tat	p.D129Y		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	129						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGAGACCAATGATGCAATTAG	0.343													61	60					4.09171e-25	1.10677e-24	1	0	T	217856693	G	T	217856693	3	4	204	1	0	0	0	0	1	0	0	0	15092	1290	45	2	403	2	SPATA17	1	217856693	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	46103651	217856693	31393928	13	36464											
PSD4	23550	broad.mit.edu	37	chr2	113949982	113949982	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgaggacaccgatgaacTcttcttggcttcctgggagc	8	11	11	11	1	3	2	0	2	3	0	4	5	4	4	2	3	2	1	2	3	1	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:113949982T>A	ENST00000245796.6	+	6	1849	c.1654T>A	c.(1654-1656)Tct>Act	p.S552T	PSD4_ENST00000441564.2_Missense_Mutation_p.S524T	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	552	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCGATGAACTCTTCTTGGCT	0.547													84	146					0	0	0	0	A	113949982	T	A	113949982	3	1	204	1	0	0	0	0	1	0	0	0	12728	1551	54	5	1672	5	PSD4	2	113949982	Missense_Mutation	SNP	T	TCGA-CR-7379-01A-11D-2012-08		113949982	129249391	14	36465											
TTN	7273	broad.mit.edu	37	chr2	179472661	179472661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatcatcttctctgtgcagCgtgaccattcatttgtgcca	7	15	8	11	1	4	2	2	2	2	0	5	2	4	2	2	0	3	1	2	0	0	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:179472661C>T	ENST00000589042.1	-	276	53077	c.52853G>A	c.(52852-52854)cGc>cAc	p.R17618H	TTN_ENST00000460472.2_Missense_Mutation_p.R8553H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15050H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R15977H|TTN_ENST00000342175.6_Missense_Mutation_p.R8745H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8678H|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15977	Fibronectin type-III 27.						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)			CTCTGTGCAGCGTGACCATTC	0.478													34	103					0	0	0	0	T	179472661	C	T	179472661	3	4	204	1	0	0	0	0	1	0	0	0	16831	768	27	1	55188	1	TTN	2	179472661	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	65522679	179472661	63726712	15	36466											
TTN	7273	broad.mit.edu	37	chr2	179639678	179639678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttagcagtcgttttgaCattttcatcttccacaagta	11	16	6	8	1	2	1	1	1	1	0	4	1	3	1	1	0	1	4	1	0	4	8			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:179639678C>T	ENST00000589042.1	-	29	6984	c.6760G>A	c.(6760-6762)Gtc>Atc	p.V2254I	TTN_ENST00000460472.2_Missense_Mutation_p.V2208I|TTN_ENST00000342992.6_Missense_Mutation_p.V2254I|TTN_ENST00000591111.1_Missense_Mutation_p.V2254I|TTN_ENST00000342175.6_Missense_Mutation_p.V2208I|TTN_ENST00000359218.5_Missense_Mutation_p.V2208I|TTN_ENST00000360870.5_Missense_Mutation_p.V2254I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1977	Ig-like 11.						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)			GTCGTTTTGACATTTTCATCT	0.393													9	38					0	0	0	0	T	179639678	C	T	179639678	3	4	204	1	0	0	0	0	1	0	0	0	16831	478	17	4	104564	4	TTN	2	179639678	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	167017	179639678	63559695	16	36467											
CASP8	841	broad.mit.edu	37	chr2	202131228	202131228	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatggacttcagcagaaatCtttatgatattggggaacaa	15	11	10	5	0	2	3	1	1	1	2	2	5	2	5	0	3	2	1	0	3	5	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:202131228C>G	ENST00000358485.4	+	2	392	c.196C>G	c.(196-198)Ctt>Gtt	p.L66V	CASP8_ENST00000323492.7_Missense_Mutation_p.L7V|CASP8_ENST00000264275.5_Missense_Mutation_p.L7V|CASP8_ENST00000432109.2_Missense_Mutation_p.L7V|CASP8_ENST00000264274.9_Missense_Mutation_p.L7V|CASP8_ENST00000392266.3_Missense_Mutation_p.L7V|CASP8_ENST00000392258.3_Missense_Mutation_p.L7V|CASP8_ENST00000392259.2_Missense_Mutation_p.L7V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	7	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAGCAGAAATCTTTATGATAT	0.408										HNSCC(4;0.00038)			16	43					0	0	0	0	G	202131228	C	G	202131228	3	3	204	1	0	0	0	0	1	0	0	0	2702	913	32	2	202	2	CASP8	2	202131228	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	22491550	202131228	41068145	17	36468											
ALS2	57679	broad.mit.edu	37	chr2	202625656	202625656	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctctcttactgaatgaTctgacagtttccgtaggtat	9	15	8	9	1	2	3	0	3	2	0	5	3	4	3	2	1	1	3	2	1	4	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:202625656T>A	ENST00000264276.6	-	4	1433	c.1061A>T	c.(1060-1062)gAt>gTt	p.D354V	ALS2_ENST00000467448.1_Missense_Mutation_p.D354V	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	354					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TACTGAATGATCTGACAGTTT	0.413													17	74					0	0	0	0	A	202625656	T	A	202625656	3	1	204	1	0	0	0	0	1	0	0	0	550	1435	50	5	4114	5	ALS2	2	202625656	Missense_Mutation	SNP	T	TCGA-CR-7379-01A-11D-2012-08	494428	202625656	40573717	18	36469											
ERBB4	2066	broad.mit.edu	37	chr2	212488657	212488657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttacttactttataaaccGttccaaaagcacctgagcca	13	13	4	11	1	0	1	0	1	0	0	1	1	1	1	4	0	5	2	4	0	7	7			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:212488657G>A	ENST00000342788.4	-	18	2502	c.2192C>T	c.(2191-2193)aCg>aTg	p.T731M	ERBB4_ENST00000436443.1_Missense_Mutation_p.T731M|ERBB4_ENST00000402597.1_Missense_Mutation_p.T721M	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	731	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTTATAAACCGTTCCAAAAGC	0.363										TSP Lung(8;0.080)			11	49					0	0	0	0	A	212488657	G	A	212488657	3	1	204	1	0	0	0	0	1	0	0	0	5247	1145	40	1	1778	1	ERBB4	2	212488657	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	9863001	212488657	30710716	19	36470											
ERBB4	2066	broad.mit.edu	37	chr2	212568852	212568852	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagtactcttccaccaatGgtcaccaggttagaaaaaac	15	9	7	10	0	2	2	1	0	1	2	3	2	3	2	3	2	2	2	3	2	7	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:212568852G>A	ENST00000342788.4	-	11	1576	c.1266C>T	c.(1264-1266)acC>acT	p.T422T	ERBB4_ENST00000436443.1_Silent_p.T422T|ERBB4_ENST00000402597.1_Silent_p.T422T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	422					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTCCACCAATGGTCACCAGGT	0.393										TSP Lung(8;0.080)			21	80					0	0	0	0	A	212568852	G	A	212568852	2	1	204	1	0	0	0	0	0	0	0	1	5247	1335	47	4		4	ERBB4	2	212568852	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	80195	212568852	30630521	20	36471											
SPAG16	79582	broad.mit.edu	37	chr2	214149438	214149438	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcggcgccttttgagccTtggggccactccggaggagc	4	8	16	13	3	0	1	0	1	0	0	1	3	1	3	4	6	2	0	4	6	0	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:214149438T>G	ENST00000413312.1	+	1	299	c.53T>G	c.(52-54)cTt>cGt	p.L18R	SPAG16_ENST00000447990.1_Intron|SPAG16_ENST00000331683.5_Intron|SPAG16_ENST00000272898.7_Intron|SPAG16_ENST00000432529.2_Intron			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	49					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTTTTGAGCCTTGGGGCCACT	0.617													2	0					0	0	0	0	G	214149438	T	G	214149438	3	3	204	1	0	0	0	0	1	0	0	0	15068	1624	56	5		5	SPAG16	2	214149438	Missense_Mutation	SNP	T	TCGA-CR-7379-01A-11D-2012-08	1580586	214149438	29049935	21	36472											
ASB18	401036	broad.mit.edu	37	chr2	237172797	237172797	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttacctagcagcatgccGgtgggcagctgagccgaggg	7	7	17	10	2	0	1	0	1	0	0	0	2	0	1	3	4	6	5	3	4	2	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr2:237172797G>A	ENST00000409749.3	-	1	191	c.192C>T	c.(190-192)acC>acT	p.T64T	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	64					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GCAGCATGCCGGTGGGCAGCT	0.527													4	33					0	0	0	0	A	237172797	G	A	237172797	2	1	204	1	0	0	0	0	0	0	0	1	1026	1103	39	1		1	ASB18	2	237172797	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	23023359	237172797	6026576	22	36473											
SETMAR	6419	broad.mit.edu	37	chr3	4355272	4355272	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggctagatcatgggaaaCtaaggaaaccttgttactgt	15	10	10	6	0	1	1	1	0	0	1	1	3	1	3	1	3	3	2	1	3	6	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:4355272C>G	ENST00000358065.4	+	2	914	c.847C>G	c.(847-849)Cta>Gta	p.L283V	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.L283V|SETMAR_ENST00000425863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	270	Histone-lysine N-methyltransferase.|Post-SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TCATGGGAAACTAAGGAAACC	0.403								Chromatin Structure					10	34					0	0	0	0	G	4355272	C	G	4355272	3	3	204	1	0	0	0	0	1	0	0	0	14227	564	20	4	853	4	SETMAR	3	4355272	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08		4355272	193667158	23	36474											
SLMAP	7871	broad.mit.edu	37	chr3	57898145	57898145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacatcgatactgagaatctCcgggaggagaaggacagtga	14	6	13	8	2	1	3	0	2	1	2	3	8	1	5	1	3	1	0	1	3	3	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:57898145C>T	ENST00000295951.3	+	18	2852	c.1635C>T	c.(1633-1635)ctC>ctT	p.L545L	SLMAP_ENST00000416870.1_Silent_p.L55L|SLMAP_ENST00000295952.3_Silent_p.L545L|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000428312.1_Silent_p.L562L|SLMAP_ENST00000442599.2_Silent_p.L30L|SLMAP_ENST00000495364.1_Silent_p.L96L|SLMAP_ENST00000449503.2_Silent_p.L524L|SLMAP_ENST00000494088.1_Silent_p.L55L			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	562					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CTGAGAATCTCCGGGAGGAGA	0.413													11	56					0	0	0	0	T	57898145	C	T	57898145	2	4	204	1	0	0	0	0	0	0	0	1	14837	842	30	2		2	SLMAP	3	57898145	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	53542873	57898145	140124285	24	36475											
ZNF654	55279	broad.mit.edu	37	chr3	88188748	88188750	+	In_Frame_Del	DEL	TAC	TAC	-																															gatttggaagtggagacactTactgcttctagtgaaggaaa																										TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:88188748_88188750delTAC	ENST00000309495.5	+	1	495_497	c.288_290delTAC	c.(286-291)ctt>ct	p.LT96del	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGGAGACACTTACTGCTTCTAGT	0.355													12	32	---	---	---	---					-	88188750	TAC	-	88188748	7	5	204	1	0	1	0	1	0	0	0	0	18162	1741	61	0	290	0	ZNF654	3	88188748	In_Frame_Del	DEL	TAC	TCGA-CR-7379-01A-11D-2012-08	30290603	88188748	109833682	25	36476											
OR5H14	403273	broad.mit.edu	37	chr3	97868899	97868899	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttacatatttgtcctctatAcaatcttgaaaaagaagtct	14	15	4	8	0	3	2	0	1	3	1	4	2	4	2	1	0	2	0	1	0	8	6			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:97868899A>C	ENST00000437310.1	+	1	730	c.670A>C	c.(670-672)Aca>Cca	p.T224P		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTCCTCTATACAATCTTGAA	0.358													3	38					0	0	0	0	C	97868899	A	C	97868899	3	2	204	1	0	0	0	0	1	0	0	0	11231	391	14	5	672	5	OR5H14	3	97868899	Missense_Mutation	SNP	A	TCGA-CR-7379-01A-11D-2012-08	9680151	97868899	100153531	26	36477											
OR5H6	79295	broad.mit.edu	37	chr3	97983841	97983841	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatcttatacaattatccTctttacaatcttagaaaaga	16	16	2	7	0	3	2	0	0	3	2	4	2	4	2	1	0	2	0	1	0	11	8			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:97983841T>C	ENST00000383696.2	+	1	754	c.713T>C	c.(712-714)cTc>cCc	p.L238P	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAATTATCCTCTTTACAATC	0.353													4	35					0	0	0	0	C	97983841	T	C	97983841	3	2	204	1	0	0	0	0	1	0	0	0	11234	1551	54	5	715	5	OR5H6	3	97983841	Missense_Mutation	SNP	T	TCGA-CR-7379-01A-11D-2012-08	114942	97983841	100038589	27	36478											
HHLA2	11148	broad.mit.edu	37	chr3	108072558	108072558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtaagccttctggacgaaGgaatttacacctgctatgta	12	11	10	8	1	1	0	0	0	1	0	1	4	1	2	2	2	3	3	2	2	6	6			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:108072558G>A	ENST00000357759.5	+	4	763	c.349G>A	c.(349-351)Gga>Aga	p.G117R	HHLA2_ENST00000489514.2_Missense_Mutation_p.G117R|HHLA2_ENST00000467562.1_Missense_Mutation_p.G53R|HHLA2_ENST00000491820.1_Missense_Mutation_p.G117R|HHLA2_ENST00000467761.1_Missense_Mutation_p.G117R	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	117	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCTGGACGAAGGAATTTACAC	0.403													15	34					0	0	0	0	A	108072558	G	A	108072558	3	1	204	1	0	0	0	0	1	0	0	0	7145	1001	35	4	355	4	HHLA2	3	108072558	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	10088717	108072558	89949872	28	36479											
IGSF10	285313	broad.mit.edu	37	chr3	151161398	151161398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgtttggtttgcaagaatCcaggtaactgtagggcttgg	9	13	13	6	0	0	1	0	0	0	1	1	1	1	1	1	4	2	6	1	4	4	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr3:151161398C>A	ENST00000282466.3	-	5	5336	c.5337G>T	c.(5335-5337)tgG>tgT	p.W1779C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1779	Ig-like C2-type 4.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGCAAGAATCCAGGTAACTG	0.498													16	93					9.16793e-09	2.35136e-08	1	0	A	151161398	C	A	151161398	3	1	204	1	0	0	0	0	1	0	0	0	7650	856	30	2	2590	2	IGSF10	3	151161398	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	43088840	151161398	46861032	29	36480											
DOK7	285489	broad.mit.edu	37	chr4	3494760	3494783	+	In_Frame_Del	DEL	CAGCAGCCTCTCGTCCTACGCGGG	CAGCAGCCTCTCGTCCTACGCGGG	-																															ggcagccactcctcttactcCagcagcctctcgtcctacgc																										TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:3494760_3494783delCAGCAGCCTCTCGTCCTACGCGGG	ENST00000340083.5	+	7	1112_1135	c.1047_1070delCAGCAGCCTCTCGTCCTACGCGGG	c.(1045-1071)tcc>tc	p.SSSLSSYAG349del	DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000389653.2_In_Frame_Del_p.SSSLSSYAG349del	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	349	Ser-rich.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding	p.A356V(1)		kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCTTACTCCAGCAGCCTCTCGTCCTACGCGGGCAGCAGCCTG	0.714													3	5	---	---	---	---					-	3494783	CAGCAGCCTCTCGTCCTACGCGGG	-	3494760	7	5	204	1	0	1	0	1	0	0	0	0	4738	581	21	0	1073	0	DOK7	4	3494760	In_Frame_Del	DEL	CAGCAGCCTCTCGTCCTACGCGGG	TCGA-CR-7379-01A-11D-2012-08		3494760	187659516	30	36481											
MSX1	4487	broad.mit.edu	37	chr4	4864759	4864759	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgtagcggccgcggcGggtgcctcgctctacggtgc	3	7	17	14	6	1	0	0	0	1	0	2	0	1	0	2	4	5	4	2	4	2	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:4864759G>T	ENST00000382723.4	+	2	1035	c.801G>T	c.(799-801)gcG>gcT	p.A267A		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	261					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGGCCGCGGCGGGTGCCTCGC	0.706													6	18					5.9392e-07	1.4848e-06	1	0	T	4864759	G	T	4864759	2	4	204	1	0	0	0	0	0	0	0	1	9965	1103	39	3		3	MSX1	4	4864759	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	1369999	4864759	186289517	31	36482											
AIMP1	9255	broad.mit.edu	37	chr4	107252981	107252981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtggaagaagtagatgtcGgagaaatagccccaaggaca	16	6	13	6	1	0	3	0	0	0	3	1	6	0	5	2	3	1	1	2	3	6	2	rs148281523		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:107252981G>A	ENST00000394701.4	+	5	657	c.616G>A	c.(616-618)Gga>Aga	p.G206R	AIMP1_ENST00000358008.3_Missense_Mutation_p.G182R|AIMP1_ENST00000442366.1_Missense_Mutation_p.G182R	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	182	tRNA-binding.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						AGTAGATGTCGGAGAAATAGC	0.428													27	189					0	0	0	0	A	107252981	G	A	107252981	3	1	204	1	0	0	0	0	1	0	0	0	433	1117	39	1	634	1	AIMP1	4	107252981	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	102388222	107252981	83901295	32	36483											
FAT4	79633	broad.mit.edu	37	chr4	126241670	126241670	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttttagcattagcccaaaCactgggagtatttttcttgc	10	15	7	9	0	1	0	0	0	1	0	1	1	1	1	1	1	4	2	1	1	4	7			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:126241670C>T	ENST00000394329.3	+	1	4117	c.4104C>T	c.(4102-4104)aaC>aaT	p.N1368N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1368	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAGCCCAAACACTGGGAGTA	0.378													21	72					0	0	0	0	T	126241670	C	T	126241670	2	4	204	1	0	0	0	0	0	0	0	1	5737	477	17	4		4	FAT4	4	126241670	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	18988689	126241670	64912606	33	36484											
FBXW7	55294	broad.mit.edu	37	chr4	153247226	153247226	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcagtctctggatcccAcacctttaccataaaatcat	11	13	5	12	0	3	0	2	0	1	0	5	1	4	1	3	2	1	1	3	2	3	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:153247226A>G	ENST00000281708.4	-	10	2805	c.1576T>C	c.(1576-1578)Tgg>Cgg	p.W526R	FBXW7_ENST00000296555.5_Missense_Mutation_p.W408R|FBXW7_ENST00000603841.1_Missense_Mutation_p.W526R|FBXW7_ENST00000603548.1_Missense_Mutation_p.W526R|FBXW7_ENST00000393956.3_Missense_Mutation_p.W350R|FBXW7_ENST00000263981.5_Missense_Mutation_p.W446R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	526					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.W526R(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTGGATCCCACACCTTTACC	0.428			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								16	89					0	0	0	0	G	153247226	A	G	153247226	3	3	204	1	0	0	0	0	1	0	0	0	5814	159	6	5	559	5	FBXW7	4	153247226	Missense_Mutation	SNP	A	TCGA-CR-7379-01A-11D-2012-08	27005556	153247226	37907050	34	36485											
FBXW7	55294	broad.mit.edu	37	chr4	153259045	153259046	+	Frame_Shift_Ins	INS	-	-	TGAGT																															tgttggttcacaactatcaaINStgagttcatctaaagcaagc																										TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:153259045_153259046insTGAGT	ENST00000281708.4	-	5	1998_1999	c.769_770insACTCA	c.(769-771)tgafs	p.*257fs	FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.*257fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.*139fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.*257fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.*81fs|RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.*177fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	257					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACAACTATCAATGAGTTCATCT	0.356			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								14	38	---	---	---	---					TGAGT	153259046	-	TGAGT	153259045	7	5	204	1	0	1	1	0	0	0	0	0	5814	101	4	0	1385	0	FBXW7	4	153259045	Frame_Shift_Ins	INS	-	TCGA-CR-7379-01A-11D-2012-08	11819	153259045	37895231	35	36486											
WDR17	116966	broad.mit.edu	37	chr4	177081214	177081214	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatagccattggtgatgtGaaaaagctagtccatttttt	11	15	9	6	0	0	2	0	2	0	0	1	2	1	2	2	1	3	2	2	1	4	6			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:177081214G>A	ENST00000393643.2	+	19	2847	c.2595G>A	c.(2593-2595)gtG>gtA	p.V865V	WDR17_ENST00000507824.2_Silent_p.V872V|WDR17_ENST00000280190.4_Silent_p.V889V|WDR17_ENST00000508596.1_Silent_p.V865V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	889										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTGGTGATGTGAAAAAGCTAG	0.378													8	32					0	0	0	0	A	177081214	G	A	177081214	2	1	204	1	0	0	0	0	0	0	0	1	17373	1277	45	2		2	WDR17	4	177081214	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	23822169	177081214	14073062	36	36487											
FAT1	2195	broad.mit.edu	37	chr4	187628208	187628208	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattaggtggaataaatgtaGgtgggttgtcattaacatct	13	14	11	3	0	2	0	1	0	1	0	2	1	2	1	0	4	1	2	0	4	7	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr4:187628208G>C	ENST00000441802.2	-	2	2983	c.2774C>G	c.(2773-2775)cCt>cGt	p.P925R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	925	Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATAAATGTAGGTGGGTTGTC	0.458										HNSCC(5;0.00058)			38	249					0	0	0	0	C	187628208	G	C	187628208	3	2	204	1	0	0	0	0	1	0	0	0	5734	1000	35	4	11096	4	FAT1	4	187628208	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	10546994	187628208	3526068	37	36488											
PRDM9	56979	broad.mit.edu	37	chr5	23522511	23522511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgcaggatgatgattacCtctgtaagtgacacttttgg	10	12	11	8	1	1	3	0	3	1	0	1	4	1	4	2	2	2	2	2	2	2	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr5:23522511C>A	ENST00000296682.3	+	7	789	c.607C>A	c.(607-609)Ctc>Atc	p.L203I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	203					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGATGATTACCTCTGTAAGTG	0.438										HNSCC(3;0.000094)			32	110					9.65963e-10	2.51659e-09	1	0	A	23522511	C	A	23522511	3	1	204	1	0	0	0	0	1	0	0	0	12543	681	24	4	629	4	PRDM9	5	23522511	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08		23522511	157392749	38	36489											
OTP	23440	broad.mit.edu	37	chr5	76932942	76932942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagagtggctccctccactgGgtcagagttgggcgccaggt	6	8	15	12	1	1	2	1	0	0	2	3	2	3	2	3	4	0	2	3	4	0	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr5:76932942G>A	ENST00000306422.3	-	2	1289	c.151C>T	c.(151-153)Cca>Tca	p.P51S		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CCCTCCACTGGGTCAGAGTTG	0.716													8	9					0	0	0	0	A	76932942	G	A	76932942	3	1	204	1	0	0	0	0	1	0	0	0	11381	1232	43	4	834	4	OTP	5	76932942	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	53410431	76932942	103982318	39	36490											
ITK	3702	broad.mit.edu	37	chr5	156668657	156668657	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcttttcaatcaacccaggCctggtgactcgactccggta	8	10	10	13	2	2	1	2	1	0	0	4	2	3	1	3	4	1	2	3	4	3	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr5:156668657C>T	ENST00000422843.3	+	11	1139	c.985_splice	c.e11-1	p.G329_splice	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	329	SH2.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAACCCAGGCCTGGTGACTC	0.448			T	SYK	peripheral T-cell lymphoma								9	24					0	0	0	0	T	156668657	C	T	156668657	5	4	204	1	0	0	0	0	0	0	1	0	7962	753	26	4	1029	4	ITK	5	156668657	Splice_Site	SNP	C	TCGA-CR-7379-01A-11D-2012-08	79735715	156668657	24246603	40	36491											
GFPT2	9945	broad.mit.edu	37	chr5	179740899	179740899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccacggtgttggtgaCgcccacggtgagagcgccgc	5	6	16	14	5	0	2	0	2	0	1	0	3	0	2	3	3	2	2	3	3	0	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr5:179740899C>T	ENST00000253778.8	-	14	1508	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	447	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GTGTTGGTGACGCCCACGGTG	0.706													4	14					0	0	0	0	T	179740899	C	T	179740899	3	4	204	1	0	0	0	0	1	0	0	0	6397	536	19	1	733	1	GFPT2	5	179740899	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	23072242	179740899	1174361	41	36492											
SERPINB9	5272	broad.mit.edu	37	chr6	2900802	2900802	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgacacagtatctttaaaAggcgtatggcaaaagtacca	15	10	8	8	1	1	1	0	1	1	0	1	1	1	1	1	2	1	4	1	2	7	6			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr6:2900802A>G	ENST00000380698.4	-	2	133	c.44T>C	c.(43-45)cTt>cCt	p.L15P		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	15					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TATCTTTAAAAGGCGTATGGC	0.473													3	162					0	0	0	0	G	2900802	A	G	2900802	3	3	204	1	0	0	0	0	1	0	0	0	14195	72	3	5	1110	5	SERPINB9	6	2900802	Missense_Mutation	SNP	A	TCGA-CR-7379-01A-11D-2012-08		2900802	168214265	42	36493											
LRFN2	57497	broad.mit.edu	37	chr6	40399668	40399668	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagccagtgatgtctgagagGcgggacttggggggtgcagt	7	8	20	6	1	1	2	0	2	1	1	1	5	1	3	1	5	2	1	1	5	0	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr6:40399668G>A	ENST00000338305.6	-	2	1727	c.1185C>T	c.(1183-1185)cgC>cgT	p.R395R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	395						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTCTGAGAGGCGGGACTTGG	0.667													14	43					0	0	0	0	A	40399668	G	A	40399668	2	1	204	1	0	0	0	0	0	0	0	1	9002	1190	42	4		4	LRFN2	6	40399668	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	37498866	40399668	130715399	43	36494											
PHF3	23469	broad.mit.edu	37	chr6	64422707	64422707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcaaaacccttacaggaGgatattttaatgcaaaatat	18	10	6	7	0	0	0	0	0	0	0	0	2	0	2	1	2	4	2	1	2	9	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr6:64422707G>A	ENST00000262043.3	+	16	5563	c.5223G>A	c.(5221-5223)gaG>gaA	p.E1741E	PHF3_ENST00000393387.1_Silent_p.E1741E			Q92576	PHF3_HUMAN	PHD finger protein 3	1741					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCTTACAGGAGGATATTTTAA	0.388													10	41					0	0	0	0	A	64422707	G	A	64422707	2	1	204	1	0	0	0	0	0	0	0	1	11908	991	35	4		4	PHF3	6	64422707	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	24023039	64422707	106692360	44	36495											
MED23	9439	broad.mit.edu	37	chr6	131917269	131917269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggatccacctgttccGcgaggccctcaaaatacaac	12	6	9	14	2	1	0	1	0	0	0	3	3	3	2	4	3	2	1	4	3	4	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr6:131917269G>A	ENST00000403834.3	-	22	3004	c.2831C>T	c.(2830-2832)gCg>gTg	p.A944V	MED23_ENST00000354577.4_Missense_Mutation_p.A944V|MED23_ENST00000368068.3_Missense_Mutation_p.A938V|MED23_ENST00000368058.1_Missense_Mutation_p.A944V|MED23_ENST00000368060.3_Missense_Mutation_p.A938V|MED23_ENST00000545957.1_Missense_Mutation_p.A579V|MED23_ENST00000479213.1_5'UTR			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	938					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CACCTGTTCCGCGAGGCCCTC	0.383													25	70					0	0	0	0	A	131917269	G	A	131917269	3	1	204	1	0	0	0	0	1	0	0	0	9510	1087	38	1	1332	1	MED23	6	131917269	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	67494562	131917269	39197798	45	36496											
AHR	196	broad.mit.edu	37	chr7	17349613	17349613	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatccttccaagcggcataGagaccgacttaatacagagt	15	8	8	10	2	0	2	0	0	0	2	2	4	2	2	3	1	2	1	3	1	5	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:17349613G>C	ENST00000242057.4	+	2	762	c.119G>C	c.(118-120)aGa>aCa	p.R40T		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	40					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AAGCGGCATAGAGACCGACTT	0.383													8	38					0	0	0	0	C	17349613	G	C	17349613	3	2	204	1	0	0	0	0	1	0	0	0	416	942	33	2	125	2	AHR	7	17349613	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08		17349613	141789050	46	36497											
MACC1	346389	broad.mit.edu	37	chr7	20199733	20199733	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctcttcctgttatttcttAgttgagttatgtcatccaaa	8	20	5	8	0	3	1	1	1	2	0	6	1	5	1	2	0	0	3	2	0	4	7			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:20199733A>G	ENST00000400331.5	-	5	559	c.251T>C	c.(250-252)cTa>cCa	p.L84P	MACC1_ENST00000332878.4_Missense_Mutation_p.L84P|MACC1_ENST00000589011.1_Missense_Mutation_p.L84P	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	84					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTTATTTCTTAGTTGAGTTAT	0.348													16	37					0	0	0	0	G	20199733	A	G	20199733	3	3	204	1	0	0	0	0	1	0	0	0	9208	420	15	5	2319	5	MACC1	7	20199733	Missense_Mutation	SNP	A	TCGA-CR-7379-01A-11D-2012-08	2850120	20199733	138938930	47	36498											
NEUROD6	63974	broad.mit.edu	37	chr7	31378780	31378780	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatctgtttggaaaagctttCtggcttcttaatttgcttct	8	19	7	7	0	4	0	0	0	4	0	4	1	4	1	0	2	2	4	0	2	4	6			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:31378780C>G	ENST00000297142.3	-	2	425	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	35					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAAAGCTTTCTGGCTTCTTA	0.448													37	121					0	0	0	0	G	31378780	C	G	31378780	3	3	204	1	0	0	0	0	1	0	0	0	10421	922	32	2	914	2	NEUROD6	7	31378780	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	11179047	31378780	127759883	48	36499											
ABCA13	154664	broad.mit.edu	37	chr7	48390266	48390266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggatgagatgtttaacCatgcaggcgctggacgcttc	8	11	13	9	2	0	1	0	1	0	1	1	4	0	3	1	3	3	5	1	3	1	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:48390266C>T	ENST00000435803.1	+	30	10255	c.10231C>T	c.(10231-10233)Cat>Tat	p.H3411Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3411					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						GATGTTTAACCATGCAGGCGC	0.512													63	103					0	0	0	0	T	48390266	C	T	48390266	3	4	204	1	0	0	0	0	1	0	0	0	31	594	21	4	10178	4	ABCA13	7	48390266	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	17011486	48390266	110748397	49	36500											
ZPBP	11055	broad.mit.edu	37	chr7	50121443	50121443	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatttcgcagttgttgCgttacacataacacgtgtgg	9	13	10	9	3	1	0	1	0	0	0	2	0	1	0	0	1	4	5	0	1	2	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:50121443C>G	ENST00000046087.2	-	3	330	c.261G>C	c.(259-261)acG>acC	p.T87T	ZPBP_ENST00000419417.1_Silent_p.T87T	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	87					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GCAGTTGTTGCGTTACACATA	0.343													23	39					0	0	0	0	G	50121443	C	G	50121443	2	3	204	1	0	0	0	0	0	0	0	1	18312	755	27	3		3	ZPBP	7	50121443	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	1731177	50121443	109017220	50	36501											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432010	117432010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagttctgaggagctatgcCtggtgtttgagcggtgggag	6	11	18	6	2	1	2	0	2	1	0	1	5	1	4	1	4	3	3	1	4	1	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr7:117432010C>T	ENST00000160373.3	-	4	1331	c.1240G>A	c.(1240-1242)Ggc>Agc	p.G414S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	414	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGAGCTATGCCTGGTGTTTGA	0.527													4	142					0	0	0	0	T	117432010	C	T	117432010	3	4	204	1	0	0	0	0	1	0	0	0	4077	681	24	4	3831	4	CTTNBP2	7	117432010	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	67310567	117432010	41706653	51	36502											
SNTG1	54212	broad.mit.edu	37	chr8	51571204	51571204	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacattctcagtttatgagaTtatgtgcaagatcctcaagg	13	13	8	7	0	2	2	2	1	1	2	4	3	3	2	1	1	2	2	1	1	5	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:51571204T>C	ENST00000522124.1	+	15	1680	c.1019T>C	c.(1018-1020)aTt>aCt	p.I340T	SNTG1_ENST00000518864.1_Missense_Mutation_p.I340T|SNTG1_ENST00000517473.1_Missense_Mutation_p.I340T|SNTG1_ENST00000276467.5_Missense_Mutation_p.I340T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	340	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTTTATGAGATTATGTGCAAG	0.358													26	30					0	0	0	0	C	51571204	T	C	51571204	3	2	204	1	0	0	0	0	1	0	0	0	14962	1493	52	5	1069	5	SNTG1	8	51571204	Missense_Mutation	SNP	T	TCGA-CR-7379-01A-11D-2012-08		51571204	94792818	52	36503											
SULF1	23213	broad.mit.edu	37	chr8	70476367	70476367	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttgtgcttaccgatgatCaagatgtggagctgggtgag	8	13	14	6	1	2	3	1	2	1	1	2	5	2	4	1	2	3	2	1	2	2	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:70476367C>T	ENST00000260128.4	+	5	874	c.157C>T	c.(157-159)Caa>Taa	p.Q53*	SULF1_ENST00000458141.2_Nonsense_Mutation_p.Q53*|SULF1_ENST00000402687.4_Nonsense_Mutation_p.Q53*|SULF1_ENST00000419716.3_Nonsense_Mutation_p.Q53*	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	53					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TACCGATGATCAAGATGTGGA	0.468													26	108					0	0	0	0	T	70476367	C	T	70476367	4	4	204	1	0	0	0	0	0	1	0	0	15460	827	29	2	159	2	SULF1	8	70476367	Nonsense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	18905163	70476367	75887655	53	36504											
TRAM1	23471	broad.mit.edu	37	chr8	71520380	71520380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgcgtgattctgcaggaCgaattcgtggctcagcactg	7	10	13	11	4	2	1	1	1	1	0	4	3	3	2	1	2	2	3	1	2	1	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:71520380C>T	ENST00000262213.2	-	1	224	c.55G>A	c.(55-57)Gtc>Atc	p.V19I	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000536748.1_Intron	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	19					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TTCTGCAGGACGAATTCGTGG	0.662													24	103					0	0	0	0	T	71520380	C	T	71520380	3	4	204	1	0	0	0	0	1	0	0	0	16546	536	19	1	1113	1	TRAM1	8	71520380	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	1044013	71520380	74843642	54	36505											
ZBTB10	65986	broad.mit.edu	37	chr8	81400004	81400004	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgagcacaaactccacgAagccaacgcccaggtacagt	14	4	8	15	3	0	0	0	0	0	0	1	2	1	0	4	1	6	2	4	1	5	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:81400004A>G	ENST00000430430.1	+	2	1738	c.959A>G	c.(958-960)gAa>gGa	p.E320G	ZBTB10_ENST00000426744.2_Missense_Mutation_p.E320G|ZBTB10_ENST00000455036.3_Missense_Mutation_p.E320G|ZBTB10_ENST00000379091.4_Intron	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	320					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			AAACTCCACGAAGCCAACGCC	0.537													6	102					0	0	0	0	G	81400004	A	G	81400004	3	3	204	1	0	0	0	0	1	0	0	0	17618	246	9	5	961	5	ZBTB10	8	81400004	Missense_Mutation	SNP	A	TCGA-CR-7379-01A-11D-2012-08	9879624	81400004	64964018	55	36506											
NECAB1	64168	broad.mit.edu	37	chr8	91929759	91929759	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttggaacaattcgtaactAgatttttattgaaggaaacc	15	14	7	5	1	0	2	0	1	0	1	1	4	0	4	1	2	3	1	1	2	7	8			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:91929759A>T	ENST00000417640.2	+	6	734	c.397A>T	c.(397-399)Aga>Tga	p.R133*		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	133					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			ATTCGTAACTAGATTTTTATT	0.403													14	28					0	0	0	0	T	91929759	A	T	91929759	4	4	204	1	0	0	0	0	0	1	0	0	10374	412	15	5	419	5	NECAB1	8	91929759	Nonsense_Mutation	SNP	A	TCGA-CR-7379-01A-11D-2012-08	10529755	91929759	54434263	56	36507			1	55		2	2	13	A		6.434589e-05
NECAB1	64168	broad.mit.edu	37	chr8	91929771	91929771	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaactagatttttattgAaggaaaccctgaatcagctg	13	13	8	7	1	1	3	1	2	0	1	2	4	1	4	1	1	3	2	1	1	6	6			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:91929771A>T	ENST00000417640.2	+	6	746	c.409A>T	c.(409-411)Aag>Tag	p.K137*		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	137					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			ATTTTTATTGAAGGAAACCCT	0.393													16	30					0	0	0	0	T	91929771	A	T	91929771	4	4	204	1	0	0	0	0	0	1	0	0	10374	247	9	5	431	5	NECAB1	8	91929771	Nonsense_Mutation	SNP	A	TCGA-CR-7379-01A-11D-2012-08	12	91929771	54434251	57	36508			1	55		2	2	13	A		6.434589e-05
INTS8	55656	broad.mit.edu	37	chr8	95862216	95862216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgagcttttcattacattGttgaaagatgaagaacgaaa	16	12	8	5	1	1	5	1	3	0	2	1	6	1	5	0	0	3	2	0	0	5	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:95862216G>C	ENST00000523731.1	+	12	1537	c.1404G>C	c.(1402-1404)ttG>ttC	p.L468F	INTS8_ENST00000447247.1_Missense_Mutation_p.L468F	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	468					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TCATTACATTGTTGAAAGATG	0.353													8	76					0	0	0	0	C	95862216	G	C	95862216	3	2	204	1	0	0	0	0	1	0	0	0	7837	1368	48	4	1450	4	INTS8	8	95862216	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	3932445	95862216	50501806	58	36509											
CYP11B2	1585	broad.mit.edu	37	chr8	143999224	143999224	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacagccagggcgctgcCacgcacacctctgcctttgc	7	6	12	16	2	1	0	0	0	1	0	1	1	1	1	4	2	4	2	4	2	0	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:143999224C>T	ENST00000323110.2	-	1	35	c.33G>A	c.(31-33)gtG>gtA	p.V11V		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	11					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AGGGCGCTGCCACGCACACCT	0.617									Familial Hyperaldosteronism type I				41	180					0	0	0	0	T	143999224	C	T	143999224	2	4	204	1	0	0	0	0	0	0	0	1	4178	581	21	4		4	CYP11B2	8	143999224	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	48137008	143999224	2364798	59	36510											
FAM83H	286077	broad.mit.edu	37	chr8	144811234	144811234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgcggcagtagtaggtggGgcccgccacagtccgtacgc	7	6	16	12	4	0	0	0	0	0	0	1	0	1	0	3	4	2	4	3	4	3	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:144811234G>T	ENST00000388913.3	-	4	765	c.640C>A	c.(640-642)Ccc>Acc	p.P214T		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	214					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TAGTAGGTGGGGCCCGCCACA	0.627													31	112					3.90053e-15	1.03804e-14	1	0	T	144811234	G	T	144811234	3	4	204	1	0	0	0	0	1	0	0	0	5686	1232	43	4	2907	4	FAM83H	8	144811234	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	812010	144811234	1552788	60	36511											
PLEC	5339	broad.mit.edu	37	chr8	145012832	145012832	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgacccacttggtgaaGgttttcttctgcacacgatc	7	15	9	10	1	2	2	0	2	2	0	3	3	2	2	1	2	1	3	1	2	1	6			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr8:145012832G>T	ENST00000322810.4	-	2	721	c.552C>A	c.(550-552)acC>acA	p.T184T	PLEC_ENST00000345136.3_Silent_p.T47T|PLEC_ENST00000354589.3_Silent_p.T47T|PLEC_ENST00000527096.1_Silent_p.T74T|PLEC_ENST00000398774.2_Silent_p.T15T|PLEC_ENST00000357649.2_Silent_p.T51T|PLEC_ENST00000356346.3_Silent_p.T33T|PLEC_ENST00000436759.2_Silent_p.T74T|PLEC_ENST00000354958.2_Silent_p.T25T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	184	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACTTGGTGAAGGTTTTCTTCT	0.637													17	85					6.94344e-10	1.81852e-09	1	0	T	145012832	G	T	145012832	2	4	204	1	0	0	0	0	0	0	0	1	12124	987	35	4		4	PLEC	8	145012832	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	201598	145012832	1351190	61	36512											
TPD52L3	89882	broad.mit.edu	37	chr9	6328941	6328941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggaggcgtgaagaagtcgGccacattcagatcttttgaa	11	11	12	7	2	2	4	1	2	1	2	3	5	2	5	1	3	0	0	1	3	3	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:6328941G>A	ENST00000344545.5	+	1	593	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	TPD52L3_ENST00000381428.1_Missense_Mutation_p.A116T|TPD52L3_ENST00000314556.3_Missense_Mutation_p.A116T	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	116							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		GAAGAAGTCGGCCACATTCAG	0.517													12	74					0	0	0	0	A	6328941	G	A	6328941	3	1	204	1	0	0	0	0	1	0	0	0	16495	1203	42	4	348	4	TPD52L3	9	6328941	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08		6328941	134884490	62	36513											
TTC39B	158219	broad.mit.edu	37	chr9	15199906	15199906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtccacctttgatgaaGttgatcatattttcatcctg	9	17	7	8	0	2	4	2	4	0	0	4	4	4	4	3	0	0	1	3	0	2	6			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:15199906G>A	ENST00000355694.2	-	8	813	c.579C>T	c.(577-579)aaC>aaT	p.N193N	TTC39B_ENST00000541445.1_Intron|TTC39B_ENST00000507993.1_Silent_p.N94N|TTC39B_ENST00000512701.1_Silent_p.N259N|TTC39B_ENST00000507285.1_Silent_p.N94N|TTC39B_ENST00000380850.4_Silent_p.N259N|TTC39B_ENST00000297615.5_Silent_p.N190N	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	193							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CTTTGATGAAGTTGATCATAT	0.274													4	22					0	0	0	0	A	15199906	G	A	15199906	2	1	204	1	0	0	0	0	0	0	0	1	16804	1020	36	4		4	TTC39B	9	15199906	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	8870965	15199906	126013525	63	36514											
CDKN2A	1029	broad.mit.edu	37	chr9	21968242	21968242	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctttcaatcggggatgtCtgcagagggcagaaagaaaa	13	9	13	6	1	3	3	1	0	2	3	4	4	3	4	0	3	1	3	0	3	4	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:21968242C>T	ENST00000579755.1	-	3	793		c.e3-1		RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(6)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGGGATGTCTGCAGAGGGC	0.542		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			18	24					0	0	0	0	T	21968242	C	T	21968242	5	4	204	1	0	0	0	0	0	0	1	0	3190	927	32	2	17	2	CDKN2A	9	21968242	Splice_Site	SNP	C	TCGA-CR-7379-01A-11D-2012-08	6768336	21968242	119245189	64	36515											
ACO1	48	broad.mit.edu	37	chr9	32407405	32407405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtgccatttaagcctgctCgtgtcatcctgcaggacttt	8	13	9	11	1	1	0	1	0	0	0	3	1	2	1	3	1	4	2	3	1	2	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:32407405C>T	ENST00000379923.1	+	4	450	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	ACO1_ENST00000541043.1_5'UTR|ACO1_ENST00000309951.5_Missense_Mutation_p.R82C	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	82					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TAAGCCTGCTCGTGTCATCCT	0.388													9	44					0	0	0	0	T	32407405	C	T	32407405	3	4	204	1	0	0	0	0	1	0	0	0	146	884	31	1	250	1	ACO1	9	32407405	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	10439163	32407405	108806026	65	36516											
CCDC107	203260	broad.mit.edu	37	chr9	35658694	35658694	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcgctgtacaccgcggccgtCgcggcttttgtgctgtacaa	5	10	13	13	6	0	0	0	0	0	0	1	0	0	0	2	2	3	5	2	2	3	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:35658694C>G	ENST00000421582.2	+	2	291	c.228C>G	c.(226-228)gtC>gtG	p.V76V	CCDC107_ENST00000378409.3_Silent_p.V76V|CCDC107_ENST00000327351.2_Silent_p.V76V|CCDC107_ENST00000378406.1_Silent_p.V76V|CCDC107_ENST00000426546.2_Silent_p.V76V|CCDC107_ENST00000378407.3_Silent_p.V76V			Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	76						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGCGGCCGTCGCGGCTTTTG	0.731													11	32					0	0	0	0	G	35658694	C	G	35658694	2	3	204	1	0	0	0	0	0	0	0	1	2767	871	31	3		3	CCDC107	9	35658694	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	3251289	35658694	105554737	66	36517											
PGM5	5239	broad.mit.edu	37	chr9	71098810	71098810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggggttggatcccaagaCgacatattatatcatgaggg	12	10	13	6	1	1	3	1	2	0	1	2	5	2	4	1	4	0	1	1	4	4	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:71098810C>T	ENST00000396396.1	+	9	1554	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	442					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GATCCCAAGACGACATATTAT	0.512													15	51					0	0	0	0	T	71098810	C	T	71098810	3	4	204	1	0	0	0	0	1	0	0	0	11873	536	19	1	1359	1	PGM5	9	71098810	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	35440116	71098810	70114621	67	36518											
SHC3	53358	broad.mit.edu	37	chr9	91657049	91657049	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggtgggtgcttctcccgTgggggccacgtgcagtttcc	3	11	16	11	2	1	0	0	0	1	0	3	0	2	0	3	4	2	4	3	4	1	3	rs67020691		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:91657049T>C	ENST00000375835.4	-	10	1558	c.1252A>G	c.(1252-1254)Acg>Gcg	p.T418A	SHC3_ENST00000375830.1_5'UTR|SHC3_ENST00000375831.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	418	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GCTTCTCCCGTGGGGGCCACG	0.572													35	102					0	0	0	0	C	91657049	T	C	91657049	3	2	204	1	0	0	0	0	1	0	0	0	14360	1696	59	5	544	5	SHC3	9	91657049	Missense_Mutation	SNP	T	TCGA-CR-7379-01A-11D-2012-08	20558239	91657049	49556382	68	36519											
SPTAN1	6709	broad.mit.edu	37	chr9	131367378	131367378	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctaaacacagacaattatgGacatgatctcgccagtgtcc	13	10	7	11	1	2	2	0	1	2	1	4	3	3	3	2	1	1	0	2	1	4	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:131367378G>C	ENST00000372739.3	+	30	3895	c.3785G>C	c.(3784-3786)gGa>gCa	p.G1262A	SPTAN1_ENST00000372731.4_Missense_Mutation_p.G1262A|SPTAN1_ENST00000358161.5_Missense_Mutation_p.G1262A	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1262					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GACAATTATGGACATGATCTC	0.488													5	42					0	0	0	0	C	131367378	G	C	131367378	3	2	204	1	0	0	0	0	1	0	0	0	15207	1174	41	2	3899	2	SPTAN1	9	131367378	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	39710329	131367378	9846053	69	36520											
NOTCH1	4851	broad.mit.edu	37	chr9	139396213	139396213	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttaccaggcccgcggacAttgacgtccatgcagtcggc	7	7	11	16	4	0	1	0	1	0	0	2	2	1	2	4	3	2	1	4	3	1	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr9:139396213A>T	ENST00000277541.6	-	30	5700	c.5625T>A	c.(5623-5625)aaT>aaA	p.N1875K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1875					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCCGCGGACATTGACGTCCA	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			7	29					0	0	0	0	T	139396213	A	T	139396213	3	4	204	1	0	0	0	0	1	0	0	0	10617	214	8	5	2062	5	NOTCH1	9	139396213	Missense_Mutation	SNP	A	TCGA-CR-7379-01A-11D-2012-08	8028835	139396213	1817218	70	36521											
FAM171A1	221061	broad.mit.edu	37	chr10	15255111	15255111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggctgggcagctggcCaccacttctccgactcgacc	6	7	11	17	2	1	0	0	0	1	0	3	2	1	0	4	3	2	4	4	3	0	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:15255111C>T	ENST00000378116.4	-	8	2482	c.2476G>A	c.(2476-2478)Ggc>Agc	p.G826S		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	826						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCAGCTGGCCACCACTTCTC	0.647													14	68					0	0	0	0	T	15255111	C	T	15255111	3	4	204	1	0	0	0	0	1	0	0	0	5531	594	21	4	200	4	FAM171A1	10	15255111	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08		15255111	120279636	71	36522											
RBP3	5949	broad.mit.edu	37	chr10	48388751	48388751	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggggtgcttcctctacCaccagctcgccagggctgtg	4	9	15	13	1	1	0	0	0	1	0	3	0	2	0	4	4	3	3	4	4	1	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:48388751C>T	ENST00000224600.4	-	1	2240	c.2127G>A	c.(2125-2127)gtG>gtA	p.V709V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	709	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTTCCTCTACCACCAGCTCGC	0.627													15	51					0	0	0	0	T	48388751	C	T	48388751	2	4	204	1	0	0	0	0	0	0	0	1	13239	581	21	4		4	RBP3	10	48388751	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	33133640	48388751	87145996	72	36523											
C10orf12	26148	broad.mit.edu	37	chr10	98743187	98743187	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagcatgtggaggaggcTgtgaatgaggtagacaacga	14	6	15	6	1	0	3	0	2	0	1	0	6	0	5	0	4	2	3	0	4	3	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:98743187T>A	ENST00000286067.2	+	1	2147	c.2040T>A	c.(2038-2040)gcT>gcA	p.A680A		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	680										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGGAGGAGGCTGTGAATGAGG	0.498													12	58					0	0	0	0	A	98743187	T	A	98743187	2	1	204	1	0	0	0	0	0	0	0	1	1599	1567	55	5		5	C10orf12	10	98743187	Silent	SNP	T	TCGA-CR-7379-01A-11D-2012-08	50354436	98743187	36791560	73	36524											
C10orf12	26148	broad.mit.edu	37	chr10	98744511	98744511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgatggagccaccaaaaccCctgctgccaagaggccagct	11	5	10	15	0	0	2	0	1	0	1	0	3	0	3	6	2	5	2	6	2	3	0			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:98744511C>T	ENST00000286067.2	+	1	3471	c.3364C>T	c.(3364-3366)Cct>Tct	p.P1122S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1122										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CACCAAAACCCCTGCTGCCAA	0.517													10	62					0	0	0	0	T	98744511	C	T	98744511	3	4	204	1	0	0	0	0	1	0	0	0	1599	623	22	4	3366	4	C10orf12	10	98744511	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	1324	98744511	36790236	74	36525											
MGEA5	10724	broad.mit.edu	37	chr10	103558656	103558656	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acactactatttgctcgaagCcattgaaattcccgtaacat	13	12	5	11	2	0	1	0	1	0	0	2	2	1	1	2	0	4	2	2	0	5	6			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:103558656C>T	ENST00000361464.3	-	9	2147	c.1752G>A	c.(1750-1752)tgG>tgA	p.W584*	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000370094.3_Nonsense_Mutation_p.W584*|MGEA5_ENST00000439817.1_Nonsense_Mutation_p.W531*|MGEA5_ENST00000357797.5_Nonsense_Mutation_p.W531*	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	584	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTGCTCGAAGCCATTGAAATT	0.443													11	91					0	0	0	0	T	103558656	C	T	103558656	4	4	204	1	0	0	0	0	0	1	0	0	9624	740	26	4	1030	4	MGEA5	10	103558656	Nonsense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	4814145	103558656	31976091	75	36526											
SORCS1	114815	broad.mit.edu	37	chr10	108389086	108389086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatggagctgagattgaCgtaagacaccgcgataccat	12	9	10	10	3	0	3	0	2	0	2	1	6	1	4	3	1	2	2	3	1	2	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:108389086C>T	ENST00000263054.6	-	19	2543	c.2536G>A	c.(2536-2538)Gtc>Atc	p.V846I	SORCS1_ENST00000369698.1_Missense_Mutation_p.V381I|SORCS1_ENST00000344440.6_Missense_Mutation_p.V846I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	846	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGAGATTGACGTAAGACACC	0.488													8	41					0	0	0	0	T	108389086	C	T	108389086	3	4	204	1	0	0	0	0	1	0	0	0	15018	536	19	1	1236	1	SORCS1	10	108389086	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	4830430	108389086	27145661	76	36527											
FAM160B1	57700	broad.mit.edu	37	chr10	116593011	116593011	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgataaagccccagtgacCgatacaaatattccatcgca	15	8	7	11	2	0	2	0	2	0	0	2	4	1	2	4	0	2	1	4	0	5	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:116593011C>T	ENST00000369248.4	+	3	479	c.144C>T	c.(142-144)acC>acT	p.T48T	FAM160B1_ENST00000369246.1_Silent_p.T48T|FAM160B1_ENST00000369250.3_Silent_p.T48T	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	48										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CCCCAGTGACCGATACAAATA	0.338													5	45					0	0	0	0	T	116593011	C	T	116593011	2	4	204	1	0	0	0	0	0	0	0	1	5511	639	23	1		1	FAM160B1	10	116593011	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	8203925	116593011	18941736	77	36528											
MKI67	4288	broad.mit.edu	37	chr10	129913712	129913712	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacagactccacgtctctTcccttccccttgttctggtc	5	14	6	16	1	2	2	0	1	2	1	7	2	5	2	4	1	1	1	4	1	1	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr10:129913712T>C	ENST00000368654.3	-	7	1335	c.960A>G	c.(958-960)ggA>ggG	p.G320G	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	320					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCACGTCTCTTCCCTTCCCCT	0.547													18	79					0	0	0	0	C	129913712	T	C	129913712	2	2	204	1	0	0	0	0	0	0	0	1	9667	1770	62	5		5	MKI67	10	129913712	Silent	SNP	T	TCGA-CR-7379-01A-11D-2012-08	13320701	129913712	5621035	78	36529											
OR52D1	390066	broad.mit.edu	37	chr11	5509984	5509984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcttccagacaccttcttCttaacagggatcccagggct	9	11	7	14	0	3	1	0	0	3	1	5	2	5	2	3	2	1	1	3	2	1	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:5509984C>T	ENST00000322641.5	+	1	70	c.48C>T	c.(46-48)ttC>ttT	p.F16F	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACACCTTCTTCTTAACAGGGA	0.488													18	67					0	0	0	0	T	5509984	C	T	5509984	2	4	204	1	0	0	0	0	0	0	0	1	11185	912	32	2		2	OR52D1	11	5509984	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08		5509984	129496532	79	36530											
HPX	3263	broad.mit.edu	37	chr11	6452483	6452483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcacattctggggttgCggaagggccttggctgcatt	5	12	15	9	1	2	0	1	0	1	0	2	1	2	1	1	6	2	3	1	6	1	4	rs143855789		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:6452483C>T	ENST00000265983.3	-	10	1447	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	449					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TCTGGGGTTGCGGAAGGGCCT	0.542													6	69					0	0	0	0	T	6452483	C	T	6452483	2	4	204	1	0	0	0	0	0	0	0	1	7396	755	27	1		1	HPX	11	6452483	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	942499	6452483	128554033	80	36531											
PRMT3	10196	broad.mit.edu	37	chr11	20409618	20409618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccagaactgtcggacagcGgggacgaggccgcctgggag	8	4	18	11	4	0	1	0	0	0	1	1	5	0	4	3	5	3	0	3	5	1	0			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:20409618G>A	ENST00000331079.6	+	2	299	c.82G>A	c.(82-84)Ggg>Agg	p.G28R	PRMT3_ENST00000437750.2_Intron	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	28							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GTCGGACAGCGGGGACGAGGC	0.647													5	39					0	0	0	0	A	20409618	G	A	20409618	3	1	204	1	0	0	0	0	1	0	0	0	12618	1116	39	1	88	1	PRMT3	11	20409618	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	13957135	20409618	114596898	81	36532											
MADD	8567	broad.mit.edu	37	chr11	47298327	47298327	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgcactctccatgtctgtGatggcattcgtggcaatgat	9	13	10	9	1	2	2	0	2	2	0	4	2	2	2	1	2	1	3	1	2	2	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:47298327G>C	ENST00000342922.4	+	5	1365	c.1008G>C	c.(1006-1008)gtG>gtC	p.V336V	MADD_ENST00000349238.3_Silent_p.V336V|MADD_ENST00000407859.3_Silent_p.V336V|MADD_ENST00000311027.5_Silent_p.V336V|MADD_ENST00000395344.3_Silent_p.V336V|MADD_ENST00000395336.3_Silent_p.V336V|MADD_ENST00000402192.2_Silent_p.V336V|MADD_ENST00000406482.1_Silent_p.V336V|MADD_ENST00000402799.1_Silent_p.V336V|MADD_ENST00000489415.1_3'UTR	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	336	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCATGTCTGTGATGGCATTCG	0.483													12	87					0	0	0	0	C	47298327	G	C	47298327	2	2	204	1	0	0	0	0	0	0	0	1	9217	1277	45	2		2	MADD	11	47298327	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	26888709	47298327	87708189	82	36533											
OR5AS1	219447	broad.mit.edu	37	chr11	55798090	55798090	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtattattttcttagcaacTtatctttcttagacatcagc	10	19	4	8	0	4	1	1	0	3	1	4	1	4	1	0	0	3	2	0	0	6	8			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:55798090T>G	ENST00000313555.1	+	1	196	c.196T>G	c.(196-198)Tta>Gta	p.L66V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCTTAGCAACTTATCTTTCTT	0.348													6	43					0	0	0	0	G	55798090	T	G	55798090	3	3	204	1	0	0	0	0	1	0	0	0	11217	1606	56	5	198	5	OR5AS1	11	55798090	Missense_Mutation	SNP	T	TCGA-CR-7379-01A-11D-2012-08	8499763	55798090	79208426	83	36534											
SLC43A3	29015	broad.mit.edu	37	chr11	57175311	57175311	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaagtacggcattcccgaTataccagaaaggggtggaag	13	7	12	9	2	0	1	0	0	0	1	2	3	2	2	3	4	2	2	3	4	6	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:57175311T>G	ENST00000395123.2	-	14	1734	c.1430A>C	c.(1429-1431)tAt>tCt	p.Y477S	SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y477S|SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y477S|SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y477S|RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y490S	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	477					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GCATTCCCGATATACCAGAAA	0.473													3	69					0	0	0	0	G	57175311	T	G	57175311	3	3	204	1	0	0	0	0	1	0	0	0	14722	1406	49	5	49	5	SLC43A3	11	57175311	Missense_Mutation	SNP	T	TCGA-CR-7379-01A-11D-2012-08	1377221	57175311	77831205	84	36535											
MS4A2	2206	broad.mit.edu	37	chr11	59863040	59863040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcccttatcaggttccagagGatcgtgtttatgaagaatta	11	14	9	7	1	1	3	1	1	0	2	4	4	3	4	2	2	0	2	2	2	5	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:59863040G>A	ENST00000278888.3	+	7	748	c.646G>A	c.(646-648)Gat>Aat	p.D216N		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	216					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GGTTCCAGAGGATCGTGTTTA	0.388													6	31					0	0	0	0	A	59863040	G	A	59863040	3	1	204	1	0	0	0	0	1	0	0	0	9930	1174	41	2	723	2	MS4A2	11	59863040	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	2687729	59863040	75143476	85	36536											
EXPH5	23086	broad.mit.edu	37	chr11	108380962	108380962	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttctgtgcaggctccaGtggaaaaggagggctcagcc	10	8	14	9	0	2	1	1	0	1	1	3	3	3	3	2	4	2	3	2	4	2	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:108380962G>A	ENST00000265843.4	-	6	5382	c.5272C>T	c.(5272-5274)Ctg>Ttg	p.L1758L	EXPH5_ENST00000525344.1_Silent_p.L1751L|EXPH5_ENST00000443411.1_Silent_p.L1570L|EXPH5_ENST00000428840.1_Silent_p.L1682L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1758					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GCAGGCTCCAGTGGAAAAGGA	0.512													15	77					0	0	0	0	A	108380962	G	A	108380962	2	1	204	1	0	0	0	0	0	0	0	1	5360	1020	36	4		4	EXPH5	11	108380962	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	48517922	108380962	26625554	86	36537											
CDON	50937	broad.mit.edu	37	chr11	125848248	125848248	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacactccagagggtcaaTctgaggcacggccgtgtaca	12	6	11	12	2	2	2	1	1	1	1	3	2	3	2	2	3	2	2	2	3	3	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr11:125848248T>A	ENST00000392693.3	-	18	3434	c.3307A>T	c.(3307-3309)Att>Ttt	p.I1103F	CDON_ENST00000531738.1_Missense_Mutation_p.I480F|CDON_ENST00000263577.7_Missense_Mutation_p.I1103F	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1103					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AGAGGGTCAATCTGAGGCACG	0.453													5	20					0	0	0	0	A	125848248	T	A	125848248	3	1	204	1	0	0	0	0	1	0	0	0	3199	1435	50	5	499	5	CDON	11	125848248	Missense_Mutation	SNP	T	TCGA-CR-7379-01A-11D-2012-08	17467286	125848248	9158268	87	36538											
PRH2	5555	broad.mit.edu	37	chr12	11082884	11082884	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagatgtcagccaagaagaCgttcccttggtaatatcagg	12	10	10	9	1	2	3	2	0	0	3	3	3	3	3	2	2	1	2	2	2	5	5	rs1130408		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:11082884C>T	ENST00000396400.3	+	2	119	c.81C>T	c.(79-81)gaC>gaT	p.D27D	PRH2_ENST00000381847.3_Silent_p.D27D|PRR4_ENST00000536668.1_Intron	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	27	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space	protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						GCCAAGAAGACGTTCCCTTGG	0.388													13	76					0	0	0	0	T	11082884	C	T	11082884	2	4	204	1	0	0	0	0	0	0	0	1	12563	535	19	1		1	PRH2	12	11082884	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08		11082884	122769011	88	36539											
PPFIBP1	8496	broad.mit.edu	37	chr12	27841969	27841969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctagagcctcgttttaacGtagaaacaatggctcagtta	12	13	8	8	2	2	2	1	0	1	2	3	2	2	2	1	1	3	4	1	1	6	6			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:27841969G>A	ENST00000318304.8	+	26	2819	c.2536G>A	c.(2536-2538)Gta>Ata	p.V846I	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.V840I|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.V693I|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.V815I	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	846	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCGTTTTAACGTAGAAACAAT	0.378													15	72					0	0	0	0	A	27841969	G	A	27841969	3	1	204	1	0	0	0	0	1	0	0	0	12384	1145	40	1	2658	1	PPFIBP1	12	27841969	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	16759085	27841969	106009926	89	36540											
CALCOCO1	57658	broad.mit.edu	37	chr12	54110137	54110137	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgctcctcttgccagctCttcgcctccttcaggtccaa	4	13	6	18	1	4	0	1	0	3	0	8	0	7	0	5	1	3	2	5	1	1	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:54110137C>T	ENST00000548263.1	-	8	960	c.912G>A	c.(910-912)aaG>aaA	p.K304K	CALCOCO1_ENST00000550804.1_Silent_p.K304K|CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000262059.4_Silent_p.K304K			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	304					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CTTGCCAGCTCTTCGCCTCCT	0.562													26	68					0	0	0	0	T	54110137	C	T	54110137	2	4	204	1	0	0	0	0	0	0	0	1	2602	912	32	2		2	CALCOCO1	12	54110137	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	26268168	54110137	79741758	90	36541											
DTX3	196403	broad.mit.edu	37	chr12	58000719	58000719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgactgtgtccaagcccGtgtgggacttcctgagcaaa	10	9	12	10	1	0	2	0	2	0	0	2	3	2	3	3	1	2	1	3	1	3	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:58000719G>A	ENST00000548198.1	+	3	1577	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	DTX3_ENST00000548804.1_Missense_Mutation_p.V25M|DTX3_ENST00000551632.1_Missense_Mutation_p.V28M|DTX3_ENST00000337737.3_Missense_Mutation_p.V25M			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	25					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GTCCAAGCCCGTGTGGGACTT	0.597													99	227					0	0	0	0	A	58000719	G	A	58000719	3	1	204	1	0	0	0	0	1	0	0	0	4831	1145	40	1	79	1	DTX3	12	58000719	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	3890582	58000719	75851176	91	36542											
PPFIA2	8499	broad.mit.edu	37	chr12	81675072	81675072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttttaaatggacacggAgatctttttttgttaggtga	10	17	9	5	1	1	2	0	1	1	1	1	4	1	3	1	3	0	1	1	3	3	7			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:81675072A>G	ENST00000550584.2	-	26	3471	c.3176T>C	c.(3175-3177)cTc>cCc	p.L1059P	PPFIA2_ENST00000443686.3_Missense_Mutation_p.L954P|PPFIA2_ENST00000541570.2_Missense_Mutation_p.L595P|PPFIA2_ENST00000541017.1_Missense_Mutation_p.L245P|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000333447.7_Missense_Mutation_p.L1044P|PPFIA2_ENST00000548586.1_Missense_Mutation_p.L1053P|PPFIA2_ENST00000407050.4_Missense_Mutation_p.L958P|PPFIA2_ENST00000550359.2_Missense_Mutation_p.L906P|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Missense_Mutation_p.L1059P|PPFIA2_ENST00000552948.1_Missense_Mutation_p.L1038P|PPFIA2_ENST00000549325.1_Missense_Mutation_p.L1044P	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	958										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATGGACACGGAGATCTTTTTT	0.343													4	26					0	0	0	0	G	81675072	A	G	81675072	3	3	204	1	0	0	0	0	1	0	0	0	12381	304	11	5	621	5	PPFIA2	12	81675072	Missense_Mutation	SNP	A	TCGA-CR-7379-01A-11D-2012-08	23674353	81675072	52176823	92	36543											
KERA	11081	broad.mit.edu	37	chr12	91449289	91449289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatgatacatcaaatcctCttgatgggagaccctcatct	11	13	7	10	0	4	4	2	3	2	1	5	5	5	4	2	1	1	0	2	1	2	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:91449289C>T	ENST00000266719.3	-	2	1017	c.770G>A	c.(769-771)aGa>aAa	p.R257K		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	257					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ATCAAATCCTCTTGATGGGAG	0.398													19	63					0	0	0	0	T	91449289	C	T	91449289	3	4	204	1	0	0	0	0	1	0	0	0	8195	913	32	2	296	2	KERA	12	91449289	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	9774217	91449289	42402606	93	36544											
NAA25	80018	broad.mit.edu	37	chr12	112506764	112506764	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtttatcgccaaacttttTaaaatactggaacattaatt	15	15	5	6	1	0	0	0	0	0	0	1	1	0	1	1	2	3	1	1	2	7	8	rs149344901		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:112506764T>A	ENST00000261745.4	-	11	1317	c.1069A>T	c.(1069-1071)Aaa>Taa	p.K357*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	357						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCAAACTTTTTAAAATACTGG	0.353													13	51					0	0	0	0	A	112506764	T	A	112506764	4	1	204	1	0	0	0	0	0	1	0	0	10191	1763	61	5	1905	5	NAA25	12	112506764	Nonsense_Mutation	SNP	T	TCGA-CR-7379-01A-11D-2012-08	21057475	112506764	21345131	94	36545											
MED13L	23389	broad.mit.edu	37	chr12	116434432	116434432	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttcagtggagcaaacaTggaggatcccacaaaaggtt	14	8	10	9	0	2	0	1	0	1	0	3	3	3	3	1	4	2	2	1	4	3	2	rs35760315		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:116434432T>C	ENST00000281928.3	-	16	3051	c.2845A>G	c.(2845-2847)Atg>Gtg	p.M949V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	949					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGAGCAAACATGGAGGATCCC	0.438													10	41					0	0	0	0	C	116434432	T	C	116434432	3	2	204	1	0	0	0	0	1	0	0	0	9500	1464	51	5	3851	5	MED13L	12	116434432	Missense_Mutation	SNP	T	TCGA-CR-7379-01A-11D-2012-08	3927668	116434432	17417463	95	36546											
KSR2	283455	broad.mit.edu	37	chr12	118406030	118406030	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaactcagaggctgctgctCctcgcttttcgtcatgtttt	6	15	8	12	2	2	1	2	0	0	1	5	1	3	1	1	1	3	5	1	1	1	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:118406030C>A	ENST00000339824.5	-	1	758	c.31G>T	c.(31-33)Gag>Tag	p.E11*				Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	11					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTGCTGCTCCTCGCTTTTC	0.522													7	110					0.00198382	0.00483739	1	0	A	118406030	C	A	118406030	4	1	204	1	0	0	0	0	0	1	0	0	8635	870	30	2		2	KSR2	12	118406030	Nonsense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	1971598	118406030	15445865	96	36547											
NCOR2	9612	broad.mit.edu	37	chr12	124862849	124862849	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcctccatctcctcatcctCcaccacgggcgggaatgcag	7	7	9	18	3	2	0	1	0	1	0	6	1	5	1	6	2	1	1	6	2	1	0			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr12:124862849C>A	ENST00000356219.3	-	19	2256	c.2101G>T	c.(2101-2103)Gag>Tag	p.E701*	NCOR2_ENST00000405201.1_Nonsense_Mutation_p.E701*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.E700*|NCOR2_ENST00000397355.1_Nonsense_Mutation_p.E701*|NCOR2_ENST00000429285.2_Nonsense_Mutation_p.E700*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.E271*	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	701					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCTCATCCTCCACCACGGGC	0.667													14	53					4.3838e-07	1.10151e-06	1	0	A	124862849	C	A	124862849	4	1	204	1	0	0	0	0	0	1	0	0	10306	864	30	2	5587	2	NCOR2	12	124862849	Nonsense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	6456819	124862849	8989046	97	36548											
ATP12A	479	broad.mit.edu	37	chr13	25275010	25275010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcaatgatcgatccccctCggtccaccgtgccagatgca	8	9	9	15	3	1	2	1	1	0	1	5	3	3	2	5	1	2	1	5	1	1	0			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr13:25275010C>T	ENST00000218548.6	+	13	2182	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	ATP12A_ENST00000381946.3_Missense_Mutation_p.R611W	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	611					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CGATCCCCCTCGGTCCACCGT	0.483													10	48					0	0	0	0	T	25275010	C	T	25275010	3	4	204	1	0	0	0	0	1	0	0	0	1126	875	31	1	1899	1	ATP12A	13	25275010	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08		25275010	89894868	98	36549											
RB1	5925	broad.mit.edu	37	chr13	49027134	49027134	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtttcatataggattcAcctttatttgatcttattaa	11	20	4	6	0	4	1	3	1	1	0	4	2	4	2	1	1	0	1	1	1	5	9			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr13:49027134A>T	ENST00000267163.4	+	18	1839	c.1701A>T	c.(1699-1701)tcA>tcT	p.S567S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	567	Domain A.|Pocket; binds T and E1A.		S -> L (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATAGGATTCACCTTTATTTG	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			3	32					0	0	0	0	T	49027134	A	T	49027134	2	4	204	1	0	0	0	0	0	0	0	1	13180	146	6	5		5	RB1	13	49027134	Silent	SNP	A	TCGA-CR-7379-01A-11D-2012-08	23752124	49027134	66142744	99	36550											
CLDN10	9071	broad.mit.edu	37	chr13	96212417	96212417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcatgtagaggacttatgatCgctgctgtcagcctgggctt	7	12	13	9	1	1	2	1	1	0	1	2	3	1	3	1	2	2	5	1	2	2	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr13:96212417C>G	ENST00000376873.3	+	2	476	c.246C>G	c.(244-246)atC>atG	p.I82M	CLDN10_ENST00000299339.2_Missense_Mutation_p.I84M|CLDN10_ENST00000376855.1_Missense_Mutation_p.I2M	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	84					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.I82I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GACTTATGATCGCTGCTGTCA	0.433													5	64					0	0	0	0	G	96212417	C	G	96212417	3	3	204	1	0	0	0	0	1	0	0	0	3502	874	31	3	476	3	CLDN10	13	96212417	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	47185283	96212417	18957461	100	36551											
POTEG	404785	broad.mit.edu	37	chr14	19566010	19566010	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttattacaattttatacatAgaatttgccagttactttct	12	20	3	6	0	1	1	0	0	1	1	1	1	1	1	1	0	4	1	1	0	8	10			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:19566010A>T	ENST00000409832.3	+	6	1107		c.e6-1		CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G											cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTTTATACATAGAATTTGCCA	0.259													7	78					0	0	0	0	T	19566010	A	T	19566010	5	4	204	1	0	0	0	0	0	0	1	0	12338	434	15	5	1076	5	POTEG	14	19566010	Splice_Site	SNP	A	TCGA-CR-7379-01A-11D-2012-08		19566010	87783530	101	36552											
FOXG1	2290	broad.mit.edu	37	chr14	29237757	29237757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccccacgtcccgcacccGtcaatgacttcgcagagcag	8	7	8	18	4	1	2	1	1	0	1	4	2	3	2	4	0	1	3	4	0	1	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:29237757G>A	ENST00000382535.3	+	2	1641	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	FOXG1_ENST00000313071.4_Silent_p.P424P			P55316	FOXG1_HUMAN	forkhead box G1	424					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCCCGCACCCGTCAATGACTT	0.657													15	47					0	0	0	0	A	29237757	G	A	29237757	2	1	204	1	0	0	0	0	0	0	0	1	6054	1132	40	1		1	FOXG1	14	29237757	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	9671747	29237757	78111783	102	36553											
PRKD1	5587	broad.mit.edu	37	chr14	30046528	30046528	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggctagcacttggattGatcaggtgtgtggggtactg	6	13	16	6	0	1	1	1	1	0	0	1	2	1	2	0	5	2	3	0	5	2	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:30046528G>T	ENST00000331968.5	-	18	2884	c.2655C>A	c.(2653-2655)atC>atA	p.I885I	PRKD1_ENST00000415220.2_Silent_p.I893I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	885					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CACTTGGATTGATCAGGTGTG	0.517													36	104					1.36161e-19	3.64324e-19	1	0	T	30046528	G	T	30046528	2	4	204	1	0	0	0	0	0	0	0	1	12598	1280	45	2		2	PRKD1	14	30046528	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	808771	30046528	77303012	103	36554											
HEATR5A	25938	broad.mit.edu	37	chr14	31762629	31762629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttatagcagcctcaaggCgggcttttagggctggagaa	9	10	13	9	1	1	1	1	0	0	1	1	2	1	1	2	4	2	3	2	4	5	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:31762629C>T	ENST00000543095.2	-	36	6207	c.6023G>A	c.(6022-6024)cGc>cAc	p.R2008H	RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1927H|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R1715H|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R2002H	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	2002							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGCCTCAAGGCGGGCTTTTAG	0.378													50	145					0	0	0	0	T	31762629	C	T	31762629	3	4	204	1	0	0	0	0	1	0	0	0	7081	768	27	1	121	1	HEATR5A	14	31762629	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	1716101	31762629	75586911	104	36555											
RPL10L	140801	broad.mit.edu	37	chr14	47120482	47120482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaacttgaacttggccctgCgcaaggcttcaatcacatgc	10	9	10	12	1	2	1	2	1	0	0	2	2	2	2	1	3	4	2	1	3	4	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:47120482C>T	ENST00000298283.3	-	1	546	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	153					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CTTGGCCCTGCGCAAGGCTTC	0.517													12	76					0	0	0	0	T	47120482	C	T	47120482	3	4	204	1	0	0	0	0	1	0	0	0	13641	768	27	1	190	1	RPL10L	14	47120482	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	15357853	47120482	60229058	105	36556											
SOCS4	122809	broad.mit.edu	37	chr14	55509833	55509833	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcggagcagaagtgccgAcagaaaagacggttatgtgt	13	8	14	6	3	0	3	0	0	0	3	1	5	0	4	1	2	2	2	1	2	5	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:55509833A>G	ENST00000395472.2	+	2	406	c.74A>G	c.(73-75)gAc>gGc	p.D25G	SOCS4_ENST00000339298.2_Missense_Mutation_p.D25G|SOCS4_ENST00000555846.1_Missense_Mutation_p.D25G	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	25					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AGAAGTGCCGACAGAAAAGAC	0.363													13	57					0	0	0	0	G	55509833	A	G	55509833	3	3	204	1	0	0	0	0	1	0	0	0	15004	275	10	5	76	5	SOCS4	14	55509833	Missense_Mutation	SNP	A	TCGA-CR-7379-01A-11D-2012-08	8389351	55509833	51839707	106	36557											
ZBTB1	22890	broad.mit.edu	37	chr14	64989074	64989074	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcacagacggacaaataCagaggagacacaagccaggc	16	3	11	11	1	1	3	0	0	1	3	1	5	1	4	1	3	3	1	1	3	3	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:64989074C>T	ENST00000358738.3	+	2	1243	c.852C>T	c.(850-852)taC>taT	p.Y284Y	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000554015.1_Silent_p.Y284Y|ZBTB1_ENST00000394712.2_Silent_p.Y284Y	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CGGACAAATACAGAGGAGACA	0.398													11	44					0	0	0	0	T	64989074	C	T	64989074	2	4	204	1	0	0	0	0	0	0	0	1	17617	489	17	4		4	ZBTB1	14	64989074	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	9479241	64989074	42360466	107	36558											
EIF2S1	1965	broad.mit.edu	37	chr14	67843302	67843302	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgatgcatttaagcatgcAgtctcgtaagaataccttct	12	14	7	8	1	2	2	0	1	2	1	3	2	2	2	1	0	4	4	1	0	5	6			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:67843302A>C	ENST00000256383.4	+	4	929	c.468A>C	c.(466-468)gcA>gcC	p.A156A	EIF2S1_ENST00000466499.2_Silent_p.A156A	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	156						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		TTAAGCATGCAGTCTCGTAAG	0.428													20	71					0	0	0	0	C	67843302	A	C	67843302	2	2	204	1	0	0	0	0	0	0	0	1	5045	175	7	5		5	EIF2S1	14	67843302	Silent	SNP	A	TCGA-CR-7379-01A-11D-2012-08	2854228	67843302	39506238	108	36559											
AHNAK2	113146	broad.mit.edu	37	chr14	105410852	105410852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccgataccctgaatgacgGcatcttgaatttgggcattt	9	12	11	9	2	1	3	0	3	1	0	1	4	1	3	2	3	1	2	2	3	3	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr14:105410852G>A	ENST00000333244.5	-	7	11055	c.10936C>T	c.(10936-10938)Ccg>Tcg	p.P3646S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3646						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGAATGACGGCATCTTGAAT	0.592													6	375					0	0	0	0	A	105410852	G	A	105410852	3	1	204	1	0	0	0	0	1	0	0	0	415	1203	42	4	6455	4	AHNAK2	14	105410852	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	37567550	105410852	1938688	109	36560											
EPB42	2038	broad.mit.edu	37	chr15	43503700	43503700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcaacaagtactccatgcGctgagcctcattcttcagga	10	11	8	12	1	4	1	3	1	1	0	5	2	5	2	2	1	4	3	2	1	3	4	rs146473183		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:43503700G>A	ENST00000300215.3	-	4	1010	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	EPB42_ENST00000540029.1_Missense_Mutation_p.R77C|EPB42_ENST00000441366.2_Missense_Mutation_p.R155C			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	155					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TACTCCATGCGCTGAGCCTCA	0.582													29	56					0	0	0	0	A	43503700	G	A	43503700	3	1	204	1	0	0	0	0	1	0	0	0	5196	1087	38	1	1652	1	EPB42	15	43503700	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08		43503700	59027692	110	36561											
FBN1	2200	broad.mit.edu	37	chr15	48760184	48760184	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaccccaggctttaccCagagaacagcagcaggaagc	13	4	12	12	0	0	1	0	0	0	1	0	4	0	3	3	3	6	4	3	3	4	3	rs143544916		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:48760184C>G	ENST00000316623.5	-	38	5153	c.4698G>C	c.(4696-4698)ctG>ctC	p.L1566L		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1566	TB 6.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGGCTTTACCCAGAGAACAGC	0.453													17	63					0	0	0	0	G	48760184	C	G	48760184	2	3	204	1	0	0	0	0	0	0	0	1	5747	581	21	4		4	FBN1	15	48760184	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	5256484	48760184	53771208	111	36562											
SPPL2A	84888	broad.mit.edu	37	chr15	51031995	51031995	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttttcctcatttctctAtcttcagttgtcactgcttt	4	23	3	11	0	6	0	3	0	3	0	8	0	7	0	1	0	1	2	1	0	1	8			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:51031995A>G	ENST00000261854.5	-	6	889	c.615T>C	c.(613-615)gaT>gaC	p.D205D		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	205						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TCATTTCTCTATCTTCAGTTG	0.318													14	54					0	0	0	0	G	51031995	A	G	51031995	2	3	204	1	0	0	0	0	0	0	0	1	15178	446	16	5		5	SPPL2A	15	51031995	Silent	SNP	A	TCGA-CR-7379-01A-11D-2012-08	2271811	51031995	51499397	112	36563											
BNC1	646	broad.mit.edu	37	chr15	83932492	83932492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagggagtatcccaggcGtgtttgctacctcggcaggc	7	8	16	10	2	0	0	0	0	0	0	2	2	1	2	2	5	2	4	2	5	3	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:83932492G>A	ENST00000345382.2	-	4	1596	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.T497M	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	504					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TATCCCAGGCGTGTTTGCTAC	0.512													27	67					0	0	0	0	A	83932492	G	A	83932492	3	1	204	1	0	0	0	0	1	0	0	0	1479	1145	40	1	1481	1	BNC1	15	83932492	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	32900497	83932492	18598900	113	36564											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84690198	84690198	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtaactggtcacattgttCtgccacctgtggtcatttgg	6	15	11	9	0	3	0	2	0	1	0	3	0	3	0	2	4	2	2	2	4	1	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:84690198C>G	ENST00000286744.5	+	26	4534	c.4310C>G	c.(4309-4311)tCt>tGt	p.S1437C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1437C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1437	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCACATTGTTCTGCCACCTGT	0.517													14	212					0	0	0	0	G	84690198	C	G	84690198	3	3	204	1	0	0	0	0	1	0	0	0	276	913	32	2	4408	2	ADAMTSL3	15	84690198	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	757706	84690198	17841194	114	36565											
BLM	641	broad.mit.edu	37	chr15	91346818	91346818	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttattcacgacacaatgcCgaaagactttttaaaaagct	15	11	6	9	2	1	1	1	0	0	1	1	3	1	1	1	0	2	2	1	0	6	5	rs147148171		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:91346818C>T	ENST00000355112.3	+	18	3544	c.3426C>T	c.(3424-3426)gcC>gcT	p.A1142A	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1142					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GACACAATGCCGAAAGACTTT	0.373			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				21	61					0	0	0	0	T	91346818	C	T	91346818	2	4	204	1	0	0	0	0	0	0	0	1	1450	639	23	1		1	BLM	15	91346818	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	6656620	91346818	11184574	115	36566											
SV2B	9899	broad.mit.edu	37	chr15	91769696	91769696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caagcaggccaagatggcgcCctccagaatggacagccttc	11	5	11	14	1	0	2	0	0	0	2	2	3	1	3	4	3	2	1	4	3	3	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr15:91769696C>T	ENST00000394232.1	+	2	673	c.203C>T	c.(202-204)cCc>cTc	p.P68L	SV2B_ENST00000330276.4_Missense_Mutation_p.P68L|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	68					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AAGATGGCGCCCTCCAGAATG	0.577													18	44					0	0	0	0	T	91769696	C	T	91769696	3	4	204	1	0	0	0	0	1	0	0	0	15508	623	22	4	205	4	SV2B	15	91769696	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	422878	91769696	10761696	116	36567											
TMC7	79905	broad.mit.edu	37	chr16	19047109	19047109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcactaaccgcagcatggcGgatctgaagcacagcagctt	12	7	10	12	2	2	1	1	1	1	0	2	2	2	2	1	2	5	5	1	2	2	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:19047109G>A	ENST00000421369.3	+	7	1197	c.639G>A	c.(637-639)gcG>gcA	p.A213A	TMC7_ENST00000569532.1_Silent_p.A323A|TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000304381.5_Silent_p.A323A	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	323						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GCAGCATGGCGGATCTGAAGC	0.542													24	51					0	0	0	0	A	19047109	G	A	19047109	2	1	204	1	0	0	0	0	0	0	0	1	16084	1103	39	1		1	TMC7	16	19047109	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08		19047109	71307644	117	36568											
ACSM5	54988	broad.mit.edu	37	chr16	20439133	20439133	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccaaattcccgataacCaccctctgctgtgtcccaac	9	10	4	18	1	2	0	0	0	2	0	5	1	4	0	5	0	3	1	5	0	3	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:20439133C>A	ENST00000331849.4	+	7	1092	c.945C>A	c.(943-945)acC>acA	p.T315T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	315					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCCCGATAACCACCCTCTGCT	0.478													58	152					6.12789e-21	1.64854e-20	1	0	A	20439133	C	A	20439133	2	1	204	1	0	0	0	0	0	0	0	1	187	581	21	4		4	ACSM5	16	20439133	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	1392024	20439133	69915620	118	36569											
ZNF423	23090	broad.mit.edu	37	chr16	49764836	49764836	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgctgttcctgtcttccagCgcacggctggttttctgatc	4	14	10	13	3	2	1	0	1	2	0	5	1	4	1	2	2	1	5	2	2	0	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:49764836C>T	ENST00000561648.1	-	3	176	c.123G>A	c.(121-123)gcG>gcA	p.A41A	ZNF423_ENST00000262383.2_Silent_p.A41A|ZNF423_ENST00000562871.1_5'UTR|ZNF423_ENST00000563137.2_5'UTR|ZNF423_ENST00000562520.1_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	41					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGTCTTCCAGCGCACGGCTGG	0.512													39	248					0	0	0	0	T	49764836	C	T	49764836	2	4	204	1	0	0	0	0	0	0	0	1	17993	755	27	1		1	ZNF423	16	49764836	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	29325703	49764836	40589917	119	36570											
HYDIN	54768	broad.mit.edu	37	chr16	71163606	71163606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctccctgcaccagcctcctCtgattcgcaaaggttcggga	7	10	9	15	2	2	1	0	1	2	0	6	2	3	2	4	2	2	3	4	2	1	2	rs929312		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:71163606C>G	ENST00000393567.2	-	9	1314	c.1164G>C	c.(1162-1164)caG>caC	p.Q388H	HYDIN_ENST00000541601.1_Missense_Mutation_p.Q405H|HYDIN_ENST00000448089.2_Missense_Mutation_p.Q388H|HYDIN_ENST00000448691.1_Missense_Mutation_p.Q388H|HYDIN_ENST00000393550.2_Missense_Mutation_p.Q388H|HYDIN_ENST00000538248.1_Missense_Mutation_p.Q415H|HYDIN_ENST00000321489.5_Missense_Mutation_p.Q388H|HYDIN_ENST00000288168.10_Missense_Mutation_p.Q405H	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	388										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAGCCTCCTCTGATTCGCAA	0.448													5	40					0	0	0	0	G	71163606	C	G	71163606	3	3	204	1	0	0	0	0	1	0	0	0	7520	912	32	2	14522	2	HYDIN	16	71163606	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	21398770	71163606	19191147	120	36571											
PKD1L2	114780	broad.mit.edu	37	chr16	81134661	81134661	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctagagagactatagagtcGctggtaagcgtacgcccgag	11	7	13	10	4	0	3	0	0	0	3	1	5	0	3	2	1	2	3	2	1	5	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr16:81134661G>A	ENST00000534142.1	-	0	1834				PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTATAGAGTCGCTGGTAAGCG	0.473													12	18					0	0	0	0	A	81134661	G	A	81134661	1	1	204	0	1	0	0	0	0	0	0	0	12037	1102	38	1		1	PKD1L2	16	81134661	RNA	SNP	G	TCGA-CR-7379-01A-11D-2012-08	9971055	81134661	9220092	121	36572											
ZMYND15	84225	broad.mit.edu	37	chr17	4647997	4647997	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcactaaggagaaagggggCcgcagggacctgcagatcaa	13	3	16	9	1	1	2	1	0	0	2	1	4	1	3	2	5	1	3	2	5	3	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:4647997C>G	ENST00000433935.1	+	11	1818	c.1761C>G	c.(1759-1761)ggC>ggG	p.G587G	ZMYND15_ENST00000592813.1_Silent_p.G548G|ZMYND15_ENST00000573751.2_Silent_p.G587G|ZMYND15_ENST00000269289.6_Silent_p.G548G	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	548							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						AGAAAGGGGGCCGCAGGGACC	0.622													7	69					0	0	0	0	G	4647997	C	G	4647997	2	3	204	1	0	0	0	0	0	0	0	1	17803	726	26	4		4	ZMYND15	17	4647997	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08		4647997	76547213	122	36573											
TP53	7157	broad.mit.edu	37	chr17	7578522	7578522	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagggcaggtcttggccagTtggcaaaacatcttgttgag	10	10	13	8	0	2	1	0	1	2	0	2	1	2	1	1	4	1	4	1	4	2	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:7578522T>A	ENST00000420246.2	-	5	540	c.408A>T	c.(406-408)caA>caT	p.Q136H	TP53_ENST00000269305.4_Missense_Mutation_p.Q136H|TP53_ENST00000455263.2_Missense_Mutation_p.Q136H|TP53_ENST00000359597.4_Missense_Mutation_p.Q136H|TP53_ENST00000445888.2_Missense_Mutation_p.Q136H|TP53_ENST00000413465.2_Missense_Mutation_p.Q136H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q136H(5)|p.Q136Q(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.C42fs*9(1)|p.K132_A138delKMFCQLA(1)|p.L137fs*12(1)|p.S127_Q136del10(1)|p.C3fs*9(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_A138delCQLA(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTTGGCCAGTTGGCAAAACA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	44					0	0	0	0	A	7578522	T	A	7578522	3	1	204	1	0	0	0	0	1	0	0	0	16476	1722	60	5	890	5	TP53	17	7578522	Missense_Mutation	SNP	T	TCGA-CR-7379-01A-11D-2012-08	2930525	7578522	73616688	123	36574											
SYNRG	11276	broad.mit.edu	37	chr17	35880712	35880712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatttttaatcccaggccGtaacatacaggaggaaaaat	16	9	8	8	1	0	0	0	0	0	0	1	2	1	2	2	3	3	2	2	3	5	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:35880712G>A	ENST00000339208.6	-	20	3846	c.3706C>T	c.(3706-3708)Cgg>Tgg	p.R1236W	SYNRG_ENST00000345615.4_Missense_Mutation_p.R1158W|SYNRG_ENST00000394378.2_Missense_Mutation_p.R1181W|SYNRG_ENST00000346661.4_Missense_Mutation_p.R1236W|SYNRG_ENST00000591288.1_Missense_Mutation_p.R1030W|SYNRG_ENST00000585472.1_Missense_Mutation_p.R1157W|SYNRG_ENST00000502449.2_Missense_Mutation_p.R1113W	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1236					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCCCAGGCCGTAACATACAG	0.517													14	52					0	0	0	0	A	35880712	G	A	35880712	3	1	204	1	0	0	0	0	1	0	0	0	15551	1144	40	1	250	1	SYNRG	17	35880712	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	28302190	35880712	45314498	124	36575											
KRT14	3861	broad.mit.edu	37	chr17	39740574	39740574	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatctgcatctccaggtCagctctggccagggtcagtt	7	11	10	13	0	6	0	3	0	3	0	7	0	6	0	2	3	2	3	2	3	1	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:39740574C>A	ENST00000167586.6	-	3	786	c.700G>T	c.(700-702)Gac>Tac	p.D234Y		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	234	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				ATCTCCAGGTCAGCTCTGGCC	0.522													6	172					0.00307968	0.00747275	1	0	A	39740574	C	A	39740574	3	1	204	1	0	0	0	0	1	0	0	0	8503	826	29	2	742	2	KRT14	17	39740574	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	3859862	39740574	41454636	125	36576											
RUNDC1	146923	broad.mit.edu	37	chr17	41142894	41142894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggatgtgaagaaagtcCgggagacggggctgcacctg	11	5	17	8	2	0	4	0	1	0	3	1	6	1	5	2	4	1	2	2	4	2	0			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:41142894C>T	ENST00000361677.1	+	5	1015	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	335										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GAAGAAAGTCCGGGAGACGGG	0.557													23	77					0	0	0	0	T	41142894	C	T	41142894	3	4	204	1	0	0	0	0	1	0	0	0	13827	643	23	1	1021	1	RUNDC1	17	41142894	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	1402320	41142894	40052316	126	36577											
ITGB3	3690	broad.mit.edu	37	chr17	45361893	45361893	+	Frame_Shift_Del	DEL	C	C	-																															cttgatggacctgtcttactCcatgaaggatgatctgtgga																										TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:45361893delC	ENST00000559488.1	+	4	462	c.446delC	c.(445-447)tcfs	p.S149fs	ITGB3_ENST00000571680.1_Frame_Shift_Del_p.S149fs|ITGB3_ENST00000560629.1_Frame_Shift_Del_p.L137fs|ITGB3_ENST00000435993.2_Frame_Shift_Del_p.S102fs	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	149	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CTGTCTTACTCCATGAAGGAT	0.512													29	62	---	---	---	---					-	45361893	C	-	45361893	7	5	204	1	0	1	0	1	0	0	0	0	7948	855	30	0	460	0	ITGB3	17	45361893	Frame_Shift_Del	DEL	C	TCGA-CR-7379-01A-11D-2012-08	4218999	45361893	35833317	127	36578											
USP32	84669	broad.mit.edu	37	chr17	58329765	58329765	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatttgtccttcttcttcCggagtagctggtcttaaccc	7	16	7	11	1	3	0	0	0	3	0	5	1	5	1	3	2	2	2	3	2	3	7	rs61751977	byFrequency	TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:58329765C>T	ENST00000300896.4	-	11	1307	c.1113G>A	c.(1111-1113)ccG>ccA	p.P371P	USP32_ENST00000592339.1_Silent_p.P41P|USP32_ENST00000393003.3_Silent_p.P371P	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	371	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTTCTTCTTCCGGAGTAGCTG	0.328													6	22					0	0	0	0	T	58329765	C	T	58329765	2	4	204	1	0	0	0	0	0	0	0	1	17159	639	23	1		1	USP32	17	58329765	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	12967872	58329765	22865445	128	36579											
HGS	9146	broad.mit.edu	37	chr17	79658578	79658578	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaggtgcgcgtgtgtgaGccctgctacgagcagctgaa	9	7	16	9	3	0	2	0	2	0	0	0	4	0	3	1	2	6	3	1	2	3	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr17:79658578G>A	ENST00000329138.4	+	8	774	c.639G>A	c.(637-639)gaG>gaA	p.E213E		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	213					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCGTGTGTGAGCCCTGCTACG	0.602													34	91					0	0	0	0	A	79658578	G	A	79658578	2	1	204	1	0	0	0	0	0	0	0	1	7137	962	34	4		4	HGS	17	79658578	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	21328813	79658578	1536632	129	36580											
POTEC	388468	broad.mit.edu	37	chr18	14537869	14537869	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attaatttatcttcattgtgGacagcatagtgtagagtggt	11	16	10	4	0	2	1	1	0	1	1	2	2	2	2	0	2	1	2	0	2	4	7			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:14537869G>T	ENST00000358970.5	-	3	740	c.741C>A	c.(739-741)gtC>gtA	p.V247V	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	247										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTTCATTGTGGACAGCATAGT	0.353													40	82					4.34086e-07	1.09629e-06	1	0	T	14537869	G	T	14537869	2	4	204	1	0	0	0	0	0	0	0	1	12334	1161	41	2		2	POTEC	18	14537869	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08		14537869	63539379	130	36581											
TAF4B	6875	broad.mit.edu	37	chr18	23845146	23845146	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatataggaaccgttttgaTtaaaagtaacagtggtccgt	15	12	9	5	2	0	1	0	1	0	0	1	2	1	2	2	2	2	2	2	2	7	6			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:23845146T>A	ENST00000269142.5	+	2	1354	c.356T>A	c.(355-357)aTt>aAt	p.I119N	TAF4B_ENST00000578121.1_Missense_Mutation_p.I119N|TAF4B_ENST00000400466.2_Missense_Mutation_p.I119N	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	119					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACCGTTTTGATTAAAAGTAAC	0.393													15	116					0	0	0	0	A	23845146	T	A	23845146	3	1	204	1	0	0	0	0	1	0	0	0	15618	1493	52	5	362	5	TAF4B	18	23845146	Missense_Mutation	SNP	T	TCGA-CR-7379-01A-11D-2012-08	9307277	23845146	54232102	131	36582											
KLHL14	57565	broad.mit.edu	37	chr18	30350279	30350279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggctgctgctgctgtgaCggctgctgctgcggcggctg	1	9	19	12	4	0	1	0	1	0	0	0	1	0	1	0	5	6	8	0	5	0	0			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:30350279C>T	ENST00000359358.4	-	2	714	c.276G>A	c.(274-276)ccG>ccA	p.P92P	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Silent_p.P92P	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	92	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						gctgctgtgacggctgctgct	0.726													8	27					0	0	0	0	T	30350279	C	T	30350279	2	4	204	1	0	0	0	0	0	0	0	1	8422	523	19	1		1	KLHL14	18	30350279	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	6505133	30350279	47726969	132	36583											
DCC	1630	broad.mit.edu	37	chr18	50929242	50929242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgagttggcagcctcccttgGaagccaatgggaaaattact	11	10	11	9	0	0	1	0	1	0	0	1	3	1	3	3	3	3	2	3	3	5	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:50929242G>A	ENST00000442544.2	+	19	3530	c.2914G>A	c.(2914-2916)Gaa>Aaa	p.E972K	DCC_ENST00000412726.1_Missense_Mutation_p.E800K|DCC_ENST00000581580.1_Missense_Mutation_p.E607K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	972	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCTCCCTTGGAAGCCAATGG	0.532													5	151					0	0	0	0	A	50929242	G	A	50929242	3	1	204	1	0	0	0	0	1	0	0	0	4314	1175	41	2	2988	2	DCC	18	50929242	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	20578963	50929242	27148006	133	36584											
DOK6	220164	broad.mit.edu	37	chr18	67425109	67425109	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaatctacagtttgcaaGgcaagtcactttaatgtaag	14	12	9	6	0	2	1	1	1	1	0	2	1	2	1	0	1	2	4	0	1	6	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr18:67425109G>T	ENST00000382713.5	+	7	1046	c.856_splice	c.e7+1	p.G286_splice		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	286							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAGTTTGCAAGGCAAGTCACT	0.438													5	46					0.00116845	0.00286327	1	0	T	67425109	G	T	67425109	5	4	204	1	0	0	0	0	0	0	1	0	4737	1014	35	4	882	4	DOK6	18	67425109	Splice_Site	SNP	G	TCGA-CR-7379-01A-11D-2012-08	16495867	67425109	10652139	134	36585											
HMHA1	23526	broad.mit.edu	37	chr19	1080465	1080465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacgcctctttctccagccGggcgaggacaccaggttcac	8	7	11	15	3	3	1	1	0	2	1	4	3	3	2	4	3	1	1	4	3	0	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:1080465G>A	ENST00000313093.2	+	15	2062	c.1831G>A	c.(1831-1833)Ggg>Agg	p.G611R	HMHA1_ENST00000586866.1_Missense_Mutation_p.G615R|HMHA1_ENST00000590214.1_Missense_Mutation_p.G638R|HMHA1_ENST00000543365.1_Missense_Mutation_p.G494R|HMHA1_ENST00000590577.1_Missense_Mutation_p.G246R|HMHA1_ENST00000539243.2_Missense_Mutation_p.G627R|HMHA1_ENST00000536472.1_Missense_Mutation_p.G479R	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	611					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		TTCTCCAGCCGGGCGAGGACA	0.692													11	57					0	0	0	0	A	1080465	G	A	1080465	3	1	204	1	0	0	0	0	1	0	0	0	7290	1116	39	1	1889	1	HMHA1	19	1080465	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08		1080465	58048518	135	36586											
MUC16	94025	broad.mit.edu	37	chr19	9085508	9085508	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtttctggatttctttGcttagcagcagatgtggatg	6	17	11	7	0	3	1	0	0	3	1	3	3	3	3	0	2	3	4	0	2	1	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:9085508G>A	ENST00000397910.4	-	1	6510	c.6307C>T	c.(6307-6309)Caa>Taa	p.Q2103*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2103	Ser-rich.|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						GGATTTCTTTGCTTAGCAGCA	0.488													24	218					0	0	0	0	A	9085508	G	A	9085508	4	1	204	1	0	0	0	0	0	1	0	0	10043	1328	46	4	37552	4	MUC16	19	9085508	Nonsense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	8005043	9085508	50043475	136	36587											
RDH8	50700	broad.mit.edu	37	chr19	10129435	10129435	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggaatgggcctggtgggGcccctggaggggctcagcct	4	7	19	11	0	1	0	1	0	0	0	1	2	1	2	4	8	1	2	4	8	1	0			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:10129435G>T	ENST00000591589.1	+	3	540	c.351G>T	c.(349-351)ggG>ggT	p.G117G	RDH8_ENST00000171214.1_Silent_p.G97G			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	97					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GCCTGGTGGGGCCCCTGGAGG	0.507													23	138					1.10513e-12	2.90979e-12	1	0	T	10129435	G	T	10129435	2	4	204	1	0	0	0	0	0	0	0	1	13278	1190	42	4		4	RDH8	19	10129435	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	1043927	10129435	48999548	137	36588											
MAN2B1	4125	broad.mit.edu	37	chr19	12763060	12763060	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgaggcctggtcactttcGttgtcacctatactggcgtt	5	14	10	12	2	2	1	2	1	0	0	3	1	2	1	3	3	1	2	3	3	2	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:12763060G>A	ENST00000456935.2	-	16	1993	c.1953C>T	c.(1951-1953)aaC>aaT	p.N651N	MAN2B1_ENST00000221363.4_Silent_p.N650N	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	651					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGTCACTTTCGTTGTCACCTA	0.602													22	94					0	0	0	0	A	12763060	G	A	12763060	2	1	204	1	0	0	0	0	0	0	0	1	9285	1136	40	1		1	MAN2B1	19	12763060	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	2633625	12763060	46365923	138	36589											
ZNF101	94039	broad.mit.edu	37	chr19	19790618	19790618	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcggacacatgaaatcAgatctcacgcgctggagaaa	14	7	9	11	3	2	3	2	1	1	2	4	5	2	4	1	2	0	1	1	2	2	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:19790618A>C	ENST00000592502.1	+	4	930	c.820A>C	c.(820-822)Aga>Cga	p.R274R	ZNF101_ENST00000415784.2_Silent_p.R154R|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						ACATGAAATCAGATCTCACGC	0.423													4	35					0	0	0	0	C	19790618	A	C	19790618	2	2	204	1	0	0	0	0	0	0	0	1	17809	180	7	5		5	ZNF101	19	19790618	Silent	SNP	A	TCGA-CR-7379-01A-11D-2012-08	7027558	19790618	39338365	139	36590											
ZNF14	7561	broad.mit.edu	37	chr19	19822565	19822565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaactgaaggttttacCgcatagtttacattcatagg	14	13	8	6	1	1	2	1	2	0	0	1	2	1	2	1	2	3	3	1	2	7	7			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:19822565C>T	ENST00000344099.3	-	4	1663	c.1525G>A	c.(1525-1527)Ggt>Agt	p.G509S		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AAGGTTTTACCGCATAGTTTA	0.393													18	122					0	0	0	0	T	19822565	C	T	19822565	3	4	204	1	0	0	0	0	1	0	0	0	17823	652	23	1	407	1	ZNF14	19	19822565	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	31947	19822565	39306418	140	36591											
ZNF99	7652	broad.mit.edu	37	chr19	22941431	22941431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctttgccacattcttcaCatttgcagggtttctctgca	8	15	7	11	0	3	0	1	0	2	0	4	0	3	0	1	1	4	4	1	1	1	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:22941431C>A	ENST00000397104.3	-	5	1006	c.1007G>T	c.(1006-1008)tGt>tTt	p.C336F	ZNF99_ENST00000596209.1_Missense_Mutation_p.C427F					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTCTTCACATTTGCAGGG	0.373													29	65					1.75199e-13	4.63761e-13	1	0	A	22941431	C	A	22941431	3	1	204	1	0	0	0	0	1	0	0	0	18297	478	17	4	2117	4	ZNF99	19	22941431	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	3118866	22941431	36187552	141	36592											
WDR62	284403	broad.mit.edu	37	chr19	36572390	36572390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcaggatcctttctgaCttgttcttcagacaacacca	10	12	6	13	0	4	2	2	1	2	1	5	3	5	3	3	1	1	1	3	1	1	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:36572390C>T	ENST00000401500.2	+	10	1324	c.1289C>T	c.(1288-1290)aCt>aTt	p.T430I	WDR62_ENST00000270301.7_Missense_Mutation_p.T430I|WDR62_ENST00000388999.3_Missense_Mutation_p.T430I	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	430					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCTTTCTGACTTGTTCTTCA	0.468													15	115					0	0	0	0	T	36572390	C	T	36572390	3	4	204	1	0	0	0	0	1	0	0	0	17409	565	20	4	1327	4	WDR62	19	36572390	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	13630959	36572390	22556593	142	36593											
TMC4	147798	broad.mit.edu	37	chr19	54666830	54666830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggagtcgcccccacaaGtgatctgattccagagagag	10	7	11	13	2	1	4	0	2	1	2	4	6	2	5	4	1	0	0	4	1	1	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:54666830G>A	ENST00000376591.4	-	9	1489	c.1358C>T	c.(1357-1359)aCt>aTt	p.T453I	TMC4_ENST00000301187.4_Missense_Mutation_p.T447I|TMC4_ENST00000416963.1_Missense_Mutation_p.T35I	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	453						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCCCACAAGTGATCTGATT	0.582													25	48					0	0	0	0	A	54666830	G	A	54666830	3	1	204	1	0	0	0	0	1	0	0	0	16081	1029	36	4	808	4	TMC4	19	54666830	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	18094440	54666830	4462153	143	36594											
ZIM3	114026	broad.mit.edu	37	chr19	57648260	57648260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacggccacttcccagCacttcctcttcctccaacca	7	9	4	21	1	1	0	0	0	1	0	5	0	5	0	7	1	3	2	7	1	1	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr19:57648260C>T	ENST00000269834.1	-	4	607	c.222G>A	c.(220-222)gtG>gtA	p.V74V		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACTTCCCAGCACTTCCTCTT	0.517													13	81					0	0	0	0	T	57648260	C	T	57648260	2	4	204	1	0	0	0	0	0	0	0	1	17780	697	25	4		4	ZIM3	19	57648260	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	2981430	57648260	1480723	144	36595											
LBP	3929	broad.mit.edu	37	chr20	36992665	36992665	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtttcgccgacattgattAtagcttagtggaagcccctc	9	12	9	11	2	0	1	0	1	0	0	2	3	0	2	3	1	2	2	3	1	4	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr20:36992665A>T	ENST00000217407.2	+	7	850	c.689A>T	c.(688-690)tAt>tTt	p.Y230F		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	230					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GACATTGATTATAGCTTAGTG	0.557													16	40					0	0	0	0	T	36992665	A	T	36992665	3	4	204	1	0	0	0	0	1	0	0	0	8704	449	16	5	715	5	LBP	20	36992665	Missense_Mutation	SNP	A	TCGA-CR-7379-01A-11D-2012-08		36992665	26032855	145	36596											
BAGE2	85319	broad.mit.edu	37	chr21	11047519	11047519	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttggtacagatttcataaTtcgttgaagacaaaaagtat	15	13	9	4	1	1	3	1	1	0	2	2	3	1	3	0	2	1	4	0	2	6	7			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr21:11047519T>A	ENST00000470054.1	-	0	735									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATTTCATAATTCGTTGAAGA	0.348													7	325					0	0	0	0	A	11047519	T	A	11047519	1	1	204	0	1	0	0	0	0	0	0	0	1296	1508	52	5		5	BAGE2	21	11047519	RNA	SNP	T	TCGA-CR-7379-01A-11D-2012-08		11047519	37082376	146	36597											
FOXRED2	80020	broad.mit.edu	37	chr22	36900343	36900343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaggatggccagatccGtcaggtcagactcgagcagc	9	7	12	13	2	3	2	3	0	0	2	5	4	4	3	3	3	2	1	3	3	0	1	rs142793535		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:36900343G>A	ENST00000397224.4	-	4	944	c.851C>T	c.(850-852)aCg>aTg	p.T284M	FOXRED2_ENST00000216187.6_Missense_Mutation_p.T284M|FOXRED2_ENST00000397223.4_Missense_Mutation_p.T284M	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	284					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGCCAGATCCGTCAGGTCAGA	0.562													24	46					0	0	0	0	A	36900343	G	A	36900343	3	1	204	1	0	0	0	0	1	0	0	0	6081	1145	40	1	1227	1	FOXRED2	22	36900343	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08		36900343	14404223	147	36598											
CBX7	23492	broad.mit.edu	37	chr22	39529912	39529912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattcagaacttcccactgCggtctcggaagaagccctca	10	9	9	13	2	3	3	2	1	1	2	5	4	4	4	2	2	3	0	2	2	3	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:39529912C>A	ENST00000216133.5	-	6	945	c.740G>T	c.(739-741)cGc>cTc	p.R247L	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Missense_Mutation_p.R154L	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	247					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CTTCCCACTGCGGTCTCGGAA	0.577													12	74					9.31168e-06	2.31622e-05	1	0	A	39529912	C	A	39529912	3	1	204	1	0	0	0	0	1	0	0	0	2748	768	27	3	19	3	CBX7	22	39529912	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	2629569	39529912	11774654	148	36599											
MKL1	57591	broad.mit.edu	37	chr22	40815260	40815260	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggatagaggtggcggcAggggccttgggggctcctgg	5	7	21	8	1	0	1	0	0	0	1	1	2	1	2	2	9	1	3	2	9	1	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:40815260A>G	ENST00000396617.3	-	12	1772	c.1182T>C	c.(1180-1182)ccT>ccC	p.P394P	MKL1_ENST00000402042.1_Silent_p.P344P|MKL1_ENST00000407029.1_Silent_p.P394P|MKL1_ENST00000355630.3_Silent_p.P394P			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	394					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						AGGTGGCGGCAGGGGCCTTGG	0.657			T	RBM15	acute megakaryocytic leukemia								6	16					0	0	0	0	G	40815260	A	G	40815260	2	3	204	1	0	0	0	0	0	0	0	1	9670	175	7	5		5	MKL1	22	40815260	Silent	SNP	A	TCGA-CR-7379-01A-11D-2012-08	1285348	40815260	10489306	149	36600											
IL17REL	400935	broad.mit.edu	37	chr22	50439548	50439548	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcgtacacgcaggagcatCgcgcagccgtcagaggggac	9	3	16	13	6	1	1	1	0	0	1	2	3	1	3	1	3	3	4	1	3	1	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:50439548C>T	ENST00000389983.2	-	4	336	c.72G>A	c.(70-72)gcG>gcA	p.A24A	IL17REL_ENST00000341280.5_Silent_p.A24A	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	24										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGAGCATCGCGCAGCCGT	0.662													6	11					0	0	0	0	T	50439548	C	T	50439548	2	4	204	1	0	0	0	0	0	0	0	1	7697	871	31	1		1	IL17REL	22	50439548	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	9624288	50439548	865018	150	36601											
LMF2	91289	broad.mit.edu	37	chr22	50943500	50943500	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccaccaggctaatcaggaAcaaggccacggtcgcagtgc	12	4	11	14	2	1	0	1	0	0	0	2	1	1	1	3	4	2	2	3	4	3	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chr22:50943500A>G	ENST00000216080.5	-	9	1333	c.1165T>C	c.(1165-1167)Ttc>Ctc	p.F389L	LMF2_ENST00000380796.3_Intron|LMF2_ENST00000474879.2_Missense_Mutation_p.F414L			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	414						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTAATCAGGAACAAGGCCACG	0.647													12	41					0	0	0	0	G	50943500	A	G	50943500	3	3	204	1	0	0	0	0	1	0	0	0	8901	43	2	5	907	5	LMF2	22	50943500	Missense_Mutation	SNP	A	TCGA-CR-7379-01A-11D-2012-08	503952	50943500	361066	151	36602											
FANCB	2187	broad.mit.edu	37	chrX	14861944	14861944	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatgtttagctatggcAgaagaaagagaactaagggt	14	11	11	5	0	1	3	1	0	0	3	1	4	1	3	0	2	2	3	0	2	6	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:14861944A>C	ENST00000398334.1	-	10	2592	c.2325T>G	c.(2323-2325)tcT>tcG	p.S775S	FANCB_ENST00000324138.3_Silent_p.S775S	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	775					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)					TAGCTATGGCAGAAGAAAGAG	0.383								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	71					0	0	0	0	C	14861944	A	C	14861944	2	2	204	1	0	0	0	0	0	0	0	1	5708	175	7	5		5	FANCB	23	14861944	Silent	SNP	A	TCGA-CR-7379-01A-11D-2012-08		14861944	140408616	152	36603											
LANCL3	347404	broad.mit.edu	37	chrX	37431412	37431412	+	Nonsense_Mutation	SNP	A	A	T																															aacgctacctgcgctcggctAagcgcctcatcgacgcgtgc																										TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:37431412A>T	ENST00000378621.3	+	1	591	c.289A>T	c.(289-291)Aag>Tag	p.K97*	LANCL3_ENST00000378619.3_Nonsense_Mutation_p.K97*|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	97							catalytic activity			lung(4)|pancreas(1)	5						GCGCTCGGCTAAGCGCCTCAT	0.716													4	13					0	0	0	0	T	37431412	A	T	37431412	4	4	204	1	0	0	0	0	0	1	0	0	8675	363	13	5	291	5	LANCL3	23	37431412	Nonsense_Mutation	SNP	A	TCGA-CR-7379-01A-11D-2012-08	22569468	37431412	117839148	153	36604	283	2									
LANCL3	347404	broad.mit.edu	37	chrX	37431414	37431414	+	Silent	SNP	G	G	A																															cgctacctgcgctcggctaaGcgcctcatcgacgcgtgcgc																										TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:37431414G>A	ENST00000378621.3	+	1	593	c.291G>A	c.(289-291)aaG>aaA	p.K97K	LANCL3_ENST00000378619.3_Silent_p.K97K|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	97							catalytic activity			lung(4)|pancreas(1)	5						GCTCGGCTAAGCGCCTCATCG	0.716													4	13					0	0	0	0	A	37431414	G	A	37431414	2	1	204	1	0	0	0	0	0	0	0	1	8675	962	34	4		4	LANCL3	23	37431414	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	2	37431414	117839146	154	36605	283	2									
SUV39H1	6839	broad.mit.edu	37	chrX	48564736	48564736	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctctttgacctggactaCgtggaggacgtgtacaccgt	8	11	11	11	3	1	1	0	1	1	0	1	4	1	4	3	3	3	1	3	3	3	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:48564736C>A	ENST00000376687.3	+	4	1099	c.909C>A	c.(907-909)taC>taA	p.Y303*	SUV39H1_ENST00000482260.1_3'UTR|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Nonsense_Mutation_p.Y314*|SUV39H1_ENST00000453214.2_Missense_Mutation_p.T151K	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	303	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	p.Y303Y(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ACCTGGACTACGTGGAGGACG	0.612													13	69					6.31663e-08	1.60345e-07	1	0	A	48564736	C	A	48564736	4	1	204	1	0	0	0	0	0	1	0	0	15502	547	19	3	923	3	SUV39H1	23	48564736	Nonsense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	11133322	48564736	106705824	155	36606											
FOXR2	139628	broad.mit.edu	37	chrX	55650595	55650595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtatccattcccccagtGactttgagctcacagaagag	11	9	10	11	0	1	4	1	2	0	2	3	4	3	4	3	1	1	2	3	1	2	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:55650595G>A	ENST00000339140.3	+	1	763	c.451G>A	c.(451-453)Gac>Aac	p.D151N		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	151					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TTCCCCCAGTGACTTTGAGCT	0.502													9	54					0	0	0	0	A	55650595	G	A	55650595	3	1	204	1	0	0	0	0	1	0	0	0	6079	1290	45	2	453	2	FOXR2	23	55650595	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	7085859	55650595	99619965	156	36607											
VSIG4	11326	broad.mit.edu	37	chrX	65253341	65253341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacacggagctcagtaatCttatctctcacgacttggtt	9	13	9	10	2	4	0	2	0	2	0	5	3	4	2	0	3	1	3	0	3	2	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:65253341C>A	ENST00000455586.2	-	2	513	c.387G>T	c.(385-387)aaG>aaT	p.K129N	VSIG4_ENST00000412866.2_Missense_Mutation_p.K129N|VSIG4_ENST00000374737.4_Missense_Mutation_p.K129N	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	129	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCAGTAATCTTATCTCTCA	0.473													28	121					1.16021e-09	3.00682e-09	1	0	A	65253341	C	A	65253341	3	1	204	1	0	0	0	0	1	0	0	0	17321	912	32	2	844	2	VSIG4	23	65253341	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	9602746	65253341	90017219	157	36608											
ZMYM3	9203	broad.mit.edu	37	chrX	70461117	70461117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagaacttgacagggcagcGgaggggattcatgcggttct	10	9	15	7	2	2	2	1	1	1	1	2	4	2	4	0	5	3	2	0	5	2	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:70461117G>A	ENST00000373998.1	-	24	4541	c.3844C>T	c.(3844-3846)Cgc>Tgc	p.R1282C	ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1204C|ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1294C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1296C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1294C|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1294					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACAGGGCAGCGGAGGGGATTC	0.507													5	39					0	0	0	0	A	70461117	G	A	70461117	3	1	204	1	0	0	0	0	1	0	0	0	17796	1116	39	1	240	1	ZMYM3	23	70461117	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	5207776	70461117	84809443	158	36609											
ERCC6L	54821	broad.mit.edu	37	chrX	71425660	71425660	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaccctgctctggaattaGgtgcagagccacacaagcta	13	7	9	12	0	1	1	0	0	1	1	1	2	1	2	2	2	5	3	2	2	5	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:71425660G>C	ENST00000373657.1	-	3	3190	c.2588C>G	c.(2587-2589)cCt>cGt	p.P863R	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.P986R			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	986					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TCTGGAATTAGGTGCAGAGCC	0.393													30	59					0	0	0	0	C	71425660	G	C	71425660	3	2	204	1	0	0	0	0	1	0	0	0	5256	1000	35	4	799	4	ERCC6L	23	71425660	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	964543	71425660	83844900	159	36610											
ARMCX3	51566	broad.mit.edu	37	chrX	100879979	100879979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacgattgcatgggctacGccaggaaagtaggctgggtg	9	7	18	7	2	0	0	0	0	0	0	0	3	0	2	1	5	2	4	1	5	3	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:100879979G>A	ENST00000341189.4	+	5	876	c.10G>A	c.(10-12)Gcc>Acc	p.A4T	ARMCX3_ENST00000471229.2_Missense_Mutation_p.A4T|ARMCX3_ENST00000537169.1_Missense_Mutation_p.A4T	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	4						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						CATGGGCTACGCCAGGAAAGT	0.557													15	80					0	0	0	0	A	100879979	G	A	100879979	3	1	204	1	0	0	0	0	1	0	0	0	965	1087	38	1	12	1	ARMCX3	23	100879979	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	29454319	100879979	54390581	160	36611											
NXF5	55998	broad.mit.edu	37	chrX	101095787	101095787	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggagagattcagggtcttGactttgggagccttctctgt	6	15	13	7	0	3	2	1	1	2	1	4	5	3	4	1	3	1	0	1	3	0	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:101095787G>C	ENST00000537026.1	-	9	920	c.561C>G	c.(559-561)gtC>gtG	p.V187V	NXF5_ENST00000361708.2_Silent_p.V187V|NXF5_ENST00000473265.2_Silent_p.V187V	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	187					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCAGGGTCTTGACTTTGGGAG	0.478													5	44					0	0	0	0	C	101095787	G	C	101095787	2	2	204	1	0	0	0	0	0	0	0	1	10857	1277	45	2		2	NXF5	23	101095787	Silent	SNP	G	TCGA-CR-7379-01A-11D-2012-08	215808	101095787	54174773	161	36612											
NXF3	56000	broad.mit.edu	37	chrX	102337969	102337969	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggatatcaagagcttcCtgggagacatcacactgttg	10	11	10	10	0	3	2	2	0	1	2	4	4	4	3	1	2	1	2	1	2	2	3			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:102337969C>T	ENST00000395065.3	-	7	755	c.654G>A	c.(652-654)caG>caA	p.Q218Q	NXF3_ENST00000425463.2_Silent_p.Q129Q|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	218						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAAGAGCTTCCTGGGAGACAT	0.498													33	308					0	0	0	0	T	102337969	C	T	102337969	2	4	204	1	0	0	0	0	0	0	0	1	10856	680	24	4		4	NXF3	23	102337969	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	1242182	102337969	52932591	162	36613											
HTR2C	3358	broad.mit.edu	37	chrX	114141460	114141460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaccaagaccagaacgcaCgccgaagaaagaagaaggag	19	1	11	10	3	0	5	0	0	0	5	0	7	0	6	3	1	2	1	3	1	7	1			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:114141460C>T	ENST00000276198.1	+	6	1587	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.R287C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	287					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CCAGAACGCACGCCGAAGAAA	0.493													20	141					0	0	0	0	T	114141460	C	T	114141460	3	4	204	1	0	0	0	0	1	0	0	0	7496	536	19	1	873	1	HTR2C	23	114141460	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	11803491	114141460	41129100	163	36614											
PGRMC1	10857	broad.mit.edu	37	chrX	118370576	118370576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcggcgcttcgacggcGtccaggacccgcgcatactc	6	6	13	16	7	0	0	0	0	0	0	3	2	1	1	2	3	3	3	2	3	1	2			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:118370576G>A	ENST00000217971.7	+	1	361	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	PGRMC1_ENST00000535419.1_Missense_Mutation_p.V84I	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	84	Cytochrome b5 heme-binding.					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						CTTCGACGGCGTCCAGGACCC	0.721													4	30					0	0	0	0	A	118370576	G	A	118370576	3	1	204	1	0	0	0	0	1	0	0	0	11878	1145	40	1	252	1	PGRMC1	23	118370576	Missense_Mutation	SNP	G	TCGA-CR-7379-01A-11D-2012-08	4229116	118370576	36899984	164	36615											
MAGEA4	4103	broad.mit.edu	37	chrX	151092703	151092703	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggcctttcctatgatggCctgctgggtaataatcagat	8	13	11	9	0	1	2	1	1	0	1	2	2	2	2	3	3	1	2	3	3	3	4			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:151092703C>G	ENST00000360243.2	+	3	834	c.567C>G	c.(565-567)ggC>ggG	p.G189G	MAGEA4_ENST00000393920.1_Silent_p.G189G|MAGEA4_ENST00000276344.2_Silent_p.G189G|MAGEA4_ENST00000370337.4_Silent_p.G189G|MAGEA4_ENST00000393921.1_Silent_p.G189G|MAGEA4_ENST00000370340.3_Silent_p.G189G|MAGEA4_ENST00000370335.1_Silent_p.G189G	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	189	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATGATGGCCTGCTGGGTA	0.537													15	161					0	0	0	0	G	151092703	C	G	151092703	2	3	204	1	0	0	0	0	0	0	0	1	9235	726	26	4		4	MAGEA4	23	151092703	Silent	SNP	C	TCGA-CR-7379-01A-11D-2012-08	32722127	151092703	4177857	165	36616											
MPP1	4354	broad.mit.edu	37	chrX	154013398	154013398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggactgcagctcggggcttCgctaggagctgactgagcca	7	7	16	11	2	0	2	0	2	0	0	2	4	0	4	1	4	4	5	1	4	1	2	rs146674414		TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:154013398C>T	ENST00000413259.3	-	8	1014	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	MPP1_ENST00000462825.1_5'UTR|MPP1_ENST00000369534.3_Missense_Mutation_p.E238K|MPP1_ENST00000393531.1_Missense_Mutation_p.E218K	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	238	SH3.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCGGGGCTTCGCTAGGAGCT	0.552													4	25					0	0	0	0	T	154013398	C	T	154013398	3	4	204	1	0	0	0	0	1	0	0	0	9803	893	31	1	712	1	MPP1	23	154013398	Missense_Mutation	SNP	C	TCGA-CR-7379-01A-11D-2012-08	2920695	154013398	1257162	166	36617											
F8	2157	broad.mit.edu	37	chrX	154159320	154159320	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacttgtattatcagtaccTgctgccaaattgtctgatgg	10	14	9	8	0	2	1	1	1	1	0	2	2	2	1	2	1	4	3	2	1	5	5			TCGA-CR-7379-01A-11D-2012-08	TCGA-CR-7379-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cc45c01-a363-4151-9ea0-32c404b79da4	fccf77bc-8678-467a-bef2-24001108bacf	g.chrX:154159320T>G	ENST00000360256.4	-	14	2945	c.2745A>C	c.(2743-2745)gcA>gcC	p.A915A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	915	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TATCAGTACCTGCTGCCAAAT	0.378													5	82					0	0	0	0	G	154159320	T	G	154159320	2	3	204	1	0	0	0	0	0	0	0	1	5388	1567	55	5		5	F8	23	154159320	Silent	SNP	T	TCGA-CR-7379-01A-11D-2012-08	145922	154159320	1111240	167	36618											
IL22RA1	58985	broad.mit.edu	37	chr1	24460838	24460838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcatctgaatcgatctcaCtttggagatacaggtcacat	13	12	7	9	1	4	2	3	1	2	1	6	4	4	2	0	2	1	0	0	2	3	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:24460838C>T	ENST00000270800.1	-	4	432	c.394G>A	c.(394-396)Gtg>Atg	p.V132M		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	132						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ATCGATCTCACTTTGGAGATA	0.507													27	25					0	0	0	0	T	24460838	C	T	24460838	3	4	205	1	0	0	0	0	1	0	0	0	7726	565	20	4	1346	4	IL22RA1	1	24460838	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08		24460838	224789783	1	36619											
ZNF362	149076	broad.mit.edu	37	chr1	33745945	33745945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttggcccccccaagtcCgaacgcggccgcaaaaagat	10	5	10	16	4	0	1	0	0	0	1	1	2	1	1	5	2	2	2	5	2	4	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:33745945C>T	ENST00000539719.1	+	5	740	c.570C>T	c.(568-570)tcC>tcT	p.S190S	ZNF362_ENST00000373428.5_Silent_p.S190S	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCCCAAGTCCGAACGCGGCC	0.657													18	52					0	0	0	0	T	33745945	C	T	33745945	2	4	205	1	0	0	0	0	0	0	0	1	17963	639	23	1		1	ZNF362	1	33745945	Silent	SNP	C	TCGA-CR-7380-01A-11D-2012-08	9285107	33745945	215504676	2	36620											
PTPRF	5792	broad.mit.edu	37	chr1	44085423	44085423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaacaagttcaagaacCggctggtgaacatcatgccc	12	7	9	13	1	2	2	2	1	0	1	2	2	2	2	3	2	5	3	3	2	5	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:44085423C>T	ENST00000359947.4	+	29	5345	c.5005C>T	c.(5005-5007)Cgg>Tgg	p.R1669W	PTPRF_ENST00000422171.2_Missense_Mutation_p.R1028W|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1660W|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1660W|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1669W	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1669	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTTCAAGAACCGGCTGGTGAA	0.582													12	65					0	0	0	0	T	44085423	C	T	44085423	3	4	205	1	0	0	0	0	1	0	0	0	12883	643	23	1	5111	1	PTPRF	1	44085423	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	10339478	44085423	205165198	3	36621											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76877873	76877873	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgagttgtgtcccataccAgcgttcctcttttgctaaaa	8	15	7	11	2	1	0	0	0	1	0	4	1	3	0	3	0	3	3	3	0	3	7			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:76877873A>G	ENST00000328299.3	+	3	542	c.394A>G	c.(394-396)Agc>Ggc	p.S132G	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	132					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GTCCCATACCAGCGTTCCTCT	0.428													23	69					0	0	0	0	G	76877873	A	G	76877873	3	3	205	1	0	0	0	0	1	0	0	0	15315	188	7	5	404	5	ST6GALNAC3	1	76877873	Missense_Mutation	SNP	A	TCGA-CR-7380-01A-11D-2012-08	32792450	76877873	172372748	4	36622											
NEXN	91624	broad.mit.edu	37	chr1	78392266	78392266	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaacaacgaccatctctCaaggaagcaaagtgtctttc	15	8	8	10	1	3	1	1	0	2	1	5	4	3	2	1	1	3	1	1	1	6	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:78392266C>G	ENST00000330010.8	+	6	762	c.465C>G	c.(463-465)ctC>ctG	p.L155L	NEXN_ENST00000334785.7_Silent_p.L219L|NEXN_ENST00000457030.1_Silent_p.L205L	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	219	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GACCATCTCTCAAGGAAGCAA	0.313													22	61					0	0	0	0	G	78392266	C	G	78392266	2	3	205	1	0	0	0	0	0	0	0	1	10425	813	29	2		2	NEXN	1	78392266	Silent	SNP	C	TCGA-CR-7380-01A-11D-2012-08	1514393	78392266	170858355	5	36623											
ABCA4	24	broad.mit.edu	37	chr1	94543340	94543340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtcagcctggctttccCgagggcccttgtagaggaag	6	10	14	11	2	1	1	1	0	0	1	3	3	2	2	3	3	1	2	3	3	2	3	rs145614671		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:94543340C>T	ENST00000370225.3	-	11	1546	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.R487Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	487					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R487L(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGGCTTTCCCGAGGGCCCTT	0.502													55	122					0	0	0	0	T	94543340	C	T	94543340	3	4	205	1	0	0	0	0	1	0	0	0	34	652	23	1	5521	1	ABCA4	1	94543340	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	16151074	94543340	154707281	6	36624											
PRPF38B	55119	broad.mit.edu	37	chr1	109242023	109242023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggcatagaagtcgcagtcGaagtcgtgataggaaagggg	14	6	16	5	3	0	2	0	1	0	1	3	4	0	3	0	4	0	2	0	4	6	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:109242023G>A	ENST00000370021.1	+	7	1326	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	PRPF38B_ENST00000370025.4_Missense_Mutation_p.R341Q			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	341					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		AGTCGCAGTCGAAGTCGTGAT	0.488													22	42					0	0	0	0	A	109242023	G	A	109242023	3	1	205	1	0	0	0	0	1	0	0	0	12648	1058	37	1	1044	1	PRPF38B	1	109242023	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	14698683	109242023	140008598	7	36625											
TNN	63923	broad.mit.edu	37	chr1	175048747	175048747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatgtcggaggactgcagcGagaagcgctgtcccggcgac	8	6	15	12	5	1	1	1	0	0	1	3	5	2	3	1	3	3	2	1	3	1	0			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:175048747G>A	ENST00000239462.4	+	3	801	c.688G>A	c.(688-690)Gag>Aag	p.E230K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	230	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGACTGCAGCGAGAAGCGCTG	0.677													6	4					0	0	0	0	A	175048747	G	A	175048747	3	1	205	1	0	0	0	0	1	0	0	0	16417	1059	37	1	694	1	TNN	1	175048747	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	65806724	175048747	74201874	8	36626											
ZNF670	93474	broad.mit.edu	37	chr1	247201303	247201303	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaagataacttgaataattGaaggctttatcacaatgttt	15	14	7	5	1	1	3	1	2	0	1	1	4	1	3	0	1	1	2	0	1	7	7			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:247201303G>A	ENST00000366503.2	-	4	776	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TTGAATAATTGAAGGCTTTAT	0.343													5	40					0	0	0	0	A	247201303	G	A	247201303	2	1	205	1	0	0	0	0	0	0	0	1	18172	1281	45	2		2	ZNF670	1	247201303	Silent	SNP	G	TCGA-CR-7380-01A-11D-2012-08	72152556	247201303	2049318	9	36627											
SDC1	6382	broad.mit.edu	37	chr2	20405159	20405160	+	Frame_Shift_Ins	INS	-	-	G																															cagagccatcttgatcttcaINSgggggcaaattagtagccac																										TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:20405159_20405160insG	ENST00000381150.1	-	3	482_483	c.92_93insC	c.(91-93)cgafs	p.R31fs	SDC1_ENST00000254351.4_Frame_Shift_Ins_p.R31fs|SDC1_ENST00000403076.1_Frame_Shift_Ins_p.R31fs|SDC1_ENST00000482879.1_5'UTR	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	31					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTTGATCTTCAGGGGGCAAATT	0.55													40	104	---	---	---	---					G	20405160	-	G	20405159	7	5	205	1	0	1	1	0	0	0	0	0	14038	175	7	0	855	0	SDC1	2	20405159	Frame_Shift_Ins	INS	-	TCGA-CR-7380-01A-11D-2012-08		20405159	222794214	10	36628											
C2orf16	84226	broad.mit.edu	37	chr2	27800115	27800115	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcttaggattaactccaGagaaaagctaccaaatccta	17	10	5	9	0	1	1	0	0	1	1	3	3	3	2	3	1	3	1	3	1	8	5			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:27800115G>T	ENST00000408964.2	+	1	727	c.676G>T	c.(676-678)Gag>Tag	p.E226*		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	226										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATTAACTCCAGAGAAAAGCTA	0.448													22	48					6.33239e-15	8.11697e-15	1	0	T	27800115	G	T	27800115	4	4	205	1	0	0	0	0	0	1	0	0	2177	943	33	2	678	2	C2orf16	2	27800115	Nonsense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	7394956	27800115	215399258	11	36629											
PRKD3	23683	broad.mit.edu	37	chr2	37543567	37543567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcgggcagagagtcccGtcttaggacttgaacacgga	11	7	14	9	3	1	3	0	1	1	2	3	6	2	5	1	3	1	1	1	3	2	2	rs114047527		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:37543567G>A	ENST00000379066.1	-	2	863	c.101C>T	c.(100-102)aCg>aTg	p.T34M	PRKD3_ENST00000234179.2_Missense_Mutation_p.T34M			O94806	KPCD3_HUMAN	protein kinase D3	34					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.T34M(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AGAGAGTCCCGTCTTAGGACT	0.493													26	56					0	0	0	0	A	37543567	G	A	37543567	3	1	205	1	0	0	0	0	1	0	0	0	12600	1145	40	1	2643	1	PRKD3	2	37543567	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	9743452	37543567	205655806	12	36630											
GPR75	10936	broad.mit.edu	37	chr2	54081573	54081573	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatactactggctgagctGaagaataacacaaaggtgaa	16	7	12	6	0	0	4	0	3	0	1	0	5	0	5	0	3	4	2	0	3	7	3			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:54081573G>A	ENST00000394705.2	-	2	591	c.321C>T	c.(319-321)ttC>ttT	p.F107F	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	107	Phe-rich.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGCTGAGCTGAAGAATAACA	0.468													4	72					0	0	0	0	A	54081573	G	A	54081573	2	1	205	1	0	0	0	0	0	0	0	1	6757	1281	45	2		2	GPR75	2	54081573	Silent	SNP	G	TCGA-CR-7380-01A-11D-2012-08	16538006	54081573	189117800	13	36631											
SPTBN1	6711	broad.mit.edu	37	chr2	54753667	54753667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgagaacagctctgcgCggctttttgagcggtcccgc	8	9	12	12	4	1	2	0	2	1	1	2	3	2	2	1	2	4	2	1	2	2	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:54753667C>T	ENST00000356805.4	+	2	393	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	38	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGCTCTGCGCGGCTTTTTGA	0.527													13	64					0	0	0	0	T	54753667	C	T	54753667	3	4	205	1	0	0	0	0	1	0	0	0	15209	759	27	1	114	1	SPTBN1	2	54753667	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	672094	54753667	188445706	14	36632											
TIA1	7072	broad.mit.edu	37	chr2	70451687	70451687	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttctcactgagctcaccCatttgttgaaaaaggagaca	13	10	7	11	0	2	3	2	2	1	1	3	4	2	3	1	1	1	2	1	1	2	3			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:70451687C>T	ENST00000433529.2	-	7	683	c.474_splice	c.e7+1	p.W158_splice	TIA1_ENST00000416149.2_Splice_Site_p.W158_splice|TIA1_ENST00000415783.2_Splice_Site_p.W147_splice|TIA1_ENST00000445587.1_Splice_Site_p.W147_splice|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000482876.1_5'UTR|TIA1_ENST00000282574.4_Splice_Site_p.W158_splice	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	158	RRM 2.				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TGAGCTCACCCATTTGTTGAA	0.368													14	41					0	0	0	0	T	70451687	C	T	70451687	5	4	205	1	0	0	0	0	0	0	1	0	15981	608	21	4	715	4	TIA1	2	70451687	Splice_Site	SNP	C	TCGA-CR-7380-01A-11D-2012-08	15698020	70451687	172747686	15	36633											
SLC5A7	60482	broad.mit.edu	37	chr2	108625031	108625031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtatatttctttctttGgtcttggtgcagtttctgct	3	22	9	7	0	4	0	0	0	4	0	4	0	4	0	0	2	2	4	0	2	2	7			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:108625031G>T	ENST00000264047.2	+	8	1282	c.1006G>T	c.(1006-1008)Ggt>Tgt	p.G336C	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G231C|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G336C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	336					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTCTTTCTTTGGTCTTGGTGC	0.443													18	25					2.94398e-08	3.64124e-08	1	0	T	108625031	G	T	108625031	3	4	205	1	0	0	0	0	1	0	0	0	14758	1348	47	4	1032	4	SLC5A7	2	108625031	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	38173344	108625031	134574342	16	36634											
GPR39	2863	broad.mit.edu	37	chr2	133174856	133174856	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttggcttgctcggacatcTtggtgttcctcatcggcatg	4	15	12	10	2	2	0	1	0	1	0	5	1	3	1	1	4	1	5	1	4	0	4			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:133174856T>C	ENST00000329321.3	+	1	710	c.241T>C	c.(241-243)Ttg>Ctg	p.L81L		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	81						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCGGACATCTTGGTGTTCCT	0.547													3	113					0	0	0	0	C	133174856	T	C	133174856	2	2	205	1	0	0	0	0	0	0	0	1	6742	1606	56	5		5	GPR39	2	133174856	Silent	SNP	T	TCGA-CR-7380-01A-11D-2012-08	24549825	133174856	110024517	17	36635											
LY75	4065	broad.mit.edu	37	chr2	160690588	160690588	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagtatgaacttcatcctGtgttgttgccatatgcctat	8	18	7	8	0	1	1	1	1	0	0	2	1	2	1	3	0	3	3	3	0	5	8			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:160690588G>A	ENST00000263636.4	-	27	3835	c.3808C>T	c.(3808-3810)Cag>Tag	p.Q1270*	LY75_ENST00000553424.1_Nonsense_Mutation_p.Q1270*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.Q1270*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.Q1270*|LY75_ENST00000554112.1_Nonsense_Mutation_p.Q1270*	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACTTCATCCTGTGTTGTTGCC	0.348													16	32					0	0	0	0	A	160690588	G	A	160690588	4	1	205	1	0	0	0	0	0	1	0	0	9164	1386	48	4	1396	4	LY75	2	160690588	Nonsense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	27515732	160690588	82508785	18	36636											
LY75	4065	broad.mit.edu	37	chr2	160708798	160708799	+	Frame_Shift_Ins	INS	-	-	T																															tctaacgaagaaacattataINStttttcacagatgaagggca																										TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:160708798_160708799insT	ENST00000263636.4	-	21	2823_2824	c.2796_2797insA	c.(2794-2799)aaataafs	p.*933fs	LY75-CD302_ENST00000505052.1_Frame_Shift_Ins_p.*933fs|LY75_ENST00000553424.1_Frame_Shift_Ins_p.*933fs|LY75_ENST00000554112.1_Frame_Shift_Ins_p.*933fs|LY75-CD302_ENST00000504764.1_Frame_Shift_Ins_p.*933fs	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GAAACATTATATTTTTCACAGA	0.366													17	31	---	---	---	---					T	160708799	-	T	160708798	7	5	205	1	0	1	1	0	0	0	0	0	9164	449	16	0	2431	0	LY75	2	160708798	Frame_Shift_Ins	INS	-	TCGA-CR-7380-01A-11D-2012-08	18210	160708798	82490575	19	36637											
XIRP2	129446	broad.mit.edu	37	chr2	168107151	168107151	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaaaacagtacagcaccaAgtagcagctcatcatgaagc	17	5	9	10	0	2	2	2	1	0	1	2	3	2	2	1	0	6	5	1	0	6	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:168107151A>T	ENST00000409195.1	+	9	9338	c.9249A>T	c.(9247-9249)caA>caT	p.Q3083H	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2861H|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q3083H|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2908					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						TACAGCACCAAGTAGCAGCTC	0.353													23	29					0	0	0	0	T	168107151	A	T	168107151	3	4	205	1	0	0	0	0	1	0	0	0	17526	69	3	5	9279	5	XIRP2	2	168107151	Missense_Mutation	SNP	A	TCGA-CR-7380-01A-11D-2012-08	7398353	168107151	75092222	20	36638											
WIPF1	7456	broad.mit.edu	37	chr2	175446145	175446145	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgctctgtcttattcAaggtaggcttctctgtattg	6	16	9	10	0	4	0	1	0	3	0	5	0	4	0	1	2	2	4	1	2	4	6			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:175446145A>C	ENST00000392547.2	-	3	173	c.74T>G	c.(73-75)tTg>tGg	p.L25W	WIPF1_ENST00000359761.3_Missense_Mutation_p.L25W|WIPF1_ENST00000409415.3_Missense_Mutation_p.L25W|WIPF1_ENST00000410117.1_Missense_Mutation_p.L25W|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.L25W|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.L25W|WIPF1_ENST00000409891.1_Missense_Mutation_p.L25W|AC010894.5_ENST00000454203.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	25					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TGTCTTATTCAAGGTAGGCTT	0.443													45	156					0	0	0	0	C	175446145	A	C	175446145	3	2	205	1	0	0	0	0	1	0	0	0	17463	131	5	5	1461	5	WIPF1	2	175446145	Missense_Mutation	SNP	A	TCGA-CR-7380-01A-11D-2012-08	7338994	175446145	67753228	21	36639											
TTN	7273	broad.mit.edu	37	chr2	179400029	179400029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgaaggctctgaaggcttGctcagaccaaatttattttc	10	14	8	9	0	3	3	1	2	2	1	4	3	3	3	1	2	1	3	1	2	4	5			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:179400029G>T	ENST00000589042.1	-	358	101537	c.101313C>A	c.(101311-101313)agC>agA	p.S33771R	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S32130R|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S24706R|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S24831R|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S31203R|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S24898R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32130							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)			CTGAAGGCTTGCTCAGACCAA	0.423													42	66					6.45866e-13	8.20424e-13	1	0	T	179400029	G	T	179400029	3	4	205	1	0	0	0	0	1	0	0	0	16831	1310	46	4	6686	4	TTN	2	179400029	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	3953884	179400029	63799344	22	36640											
TTN	7273	broad.mit.edu	37	chr2	179596116	179596116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcccatcatgcttgacttCaatgccactgaggtacaaac	11	12	6	12	0	2	2	2	2	0	0	3	2	3	2	2	1	4	2	2	1	3	4			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:179596116C>T	ENST00000589042.1	-	59	17601	c.17377G>A	c.(17377-17379)Gaa>Aaa	p.E5793K	TTN_ENST00000591111.1_Missense_Mutation_p.E5476K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4549K|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5476	Ig-like 39.						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)			TGCTTGACTTCAATGCCACTG	0.403													9	175					0	0	0	0	T	179596116	C	T	179596116	3	4	205	1	0	0	0	0	1	0	0	0	16831	835	29	2	87368	2	TTN	2	179596116	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	196087	179596116	63603257	23	36641											
COL3A1	1281	broad.mit.edu	37	chr2	189857641	189857641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtcctcctggaactgccgGattccctggatcccctggtg	4	11	12	14	1	0	0	0	0	0	0	4	3	4	3	6	5	2	0	6	5	1	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:189857641G>T	ENST00000304636.3	+	15	1195	c.1025G>T	c.(1024-1026)gGa>gTa	p.G342V	COL3A1_ENST00000317840.5_Missense_Mutation_p.G342V	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	342	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGAACTGCCGGATTCCCTGGA	0.393													37	37					8.16277e-20	1.05592e-19	1	0	T	189857641	G	T	189857641	3	4	205	1	0	0	0	0	1	0	0	0	3718	1174	41	2	1083	2	COL3A1	2	189857641	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	10261525	189857641	53341732	24	36642											
CPS1	1373	broad.mit.edu	37	chr2	211471497	211471497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcccagacactctccaatgCcgagtttcagatgttgagac	10	10	9	12	1	2	3	1	1	1	3	3	5	2	3	3	0	2	2	3	0	1	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:211471497C>T	ENST00000233072.5	+	18	2220	c.2024C>T	c.(2023-2025)gCc>gTc	p.A675V	CPS1_ENST00000451903.2_Missense_Mutation_p.A224V|CPS1_ENST00000430249.2_Missense_Mutation_p.A681V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	675	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CTCTCCAATGCCGAGTTTCAG	0.453													19	20					0	0	0	0	T	211471497	C	T	211471497	3	4	205	1	0	0	0	0	1	0	0	0	3853	739	26	4	2116	4	CPS1	2	211471497	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	21613856	211471497	31727876	25	36643											
OBSL1	23363	broad.mit.edu	37	chr2	220422982	220422982	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgtcctcaggctgggcGtggggcagggtcagggtgcg	3	6	21	11	4	2	0	2	0	0	0	3	0	3	0	2	7	1	2	2	7	0	0			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:220422982G>A	ENST00000404537.1	-	10	3482	c.3426C>T	c.(3424-3426)caC>caT	p.H1142H	OBSL1_ENST00000265317.5_Silent_p.H133H|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000603926.1_Silent_p.H1142H|OBSL1_ENST00000373876.1_Silent_p.H1142H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1142	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGGCTGGGCGTGGGGCAGGG	0.667													11	7					0	0	0	0	A	220422982	G	A	220422982	2	1	205	1	0	0	0	0	0	0	0	1	10884	1136	40	1		1	OBSL1	2	220422982	Silent	SNP	G	TCGA-CR-7380-01A-11D-2012-08	8951485	220422982	22776391	26	36644											
DOCK3	1795	broad.mit.edu	37	chr3	51349911	51349911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgtctgtctaggtgtGgaattcttactttagcctgg	5	18	10	8	0	4	0	0	0	4	0	5	1	4	1	1	3	2	0	1	3	4	6			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr3:51349911G>T	ENST00000266037.9	+	30	3121	c.3098G>T	c.(3097-3099)tGg>tTg	p.W1033L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1033						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTCTAGGTGTGGAATTCTTAC	0.373													3	38					0.004672	0.00544423	1	0	T	51349911	G	T	51349911	3	4	205	1	0	0	0	0	1	0	0	0	4724	1357	47	4	3216	4	DOCK3	3	51349911	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08		51349911	146672519	27	36645											
NAALADL2	254827	broad.mit.edu	37	chr3	174974310	174974310	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattaggaaaattgccactGctttataaggttggtccagt	13	13	9	6	0	0	0	0	0	0	0	1	1	1	1	2	3	2	2	2	3	6	6			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr3:174974310G>A	ENST00000454872.1	+	4	1058	c.930G>A	c.(928-930)ctG>ctA	p.L310L	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS2_ENST00000424690.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	310					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AATTGCCACTGCTTTATAAGG	0.358													4	40					0	0	0	0	A	174974310	G	A	174974310	2	1	205	1	0	0	0	0	0	0	0	1	10200	1306	46	4		4	NAALADL2	3	174974310	Silent	SNP	G	TCGA-CR-7380-01A-11D-2012-08	123624399	174974310	23048120	28	36646											
DNAH5	1767	broad.mit.edu	37	chr5	13919309	13919309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtttcgacttggccgcCgcaagcactgccagcacagc	9	6	11	15	3	0	0	0	0	0	0	1	1	0	0	3	1	5	5	3	1	1	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:13919309C>T	ENST00000265104.4	-	7	1055	c.951G>A	c.(949-951)gcG>gcA	p.A317A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	317	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTTGGCCGCCGCAAGCACTG	0.463									Kartagener syndrome				42	104					0	0	0	0	T	13919309	C	T	13919309	2	4	205	1	0	0	0	0	0	0	0	1	4641	639	23	1		1	DNAH5	5	13919309	Silent	SNP	C	TCGA-CR-7380-01A-11D-2012-08		13919309	166995951	29	36647											
SLC1A3	6507	broad.mit.edu	37	chr5	36608588	36608591	+	Frame_Shift_Del	DEL	AGTC	AGTC	-																															atggagagattccagcagggAgtccgtaaacgcacactttt																										TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:36608588_36608591delAGTC	ENST00000265113.4	+	2	539_542	c.63_66delAGTC	c.(61-66)ggfs	p.GV21fs	SLC1A3_ENST00000381918.3_Frame_Shift_Del_p.GV21fs|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	21					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.G21G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TCCAGCAGGGAGTCCGTAAACGCA	0.446													48	100	---	---	---	---					-	36608591	AGTC	-	36608588	7	5	205	1	0	1	0	1	0	0	0	0	14521	291	11	0	65	0	SLC1A3	5	36608588	Frame_Shift_Del	DEL	AGTC	TCGA-CR-7380-01A-11D-2012-08	22689279	36608588	144306672	30	36648											
AFF4	27125	broad.mit.edu	37	chr5	132232472	132232472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggtcgaggggaagacttaGactccttctttatattgggt	9	14	12	6	1	1	2	0	0	1	2	3	4	2	3	1	4	0	0	1	4	5	7			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:132232472G>C	ENST00000265343.5	-	11	2229	c.1850C>G	c.(1849-1851)tCt>tGt	p.S617C	AFF4_ENST00000378595.3_Missense_Mutation_p.S617C	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	617					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAAGACTTAGACTCCTTCTT	0.433													36	26					0	0	0	0	C	132232472	G	C	132232472	3	2	205	1	0	0	0	0	1	0	0	0	359	942	33	2	1685	2	AFF4	5	132232472	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	95623884	132232472	48682788	31	36649											
SLC25A2	83884	broad.mit.edu	37	chr5	140683343	140683343	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcttcacttttattgtgtcGaagggctgcccagtcagtac	8	14	9	10	1	3	0	2	0	1	0	4	1	3	0	1	1	2	2	1	1	3	5			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:140683343G>A	ENST00000239451.4	-	1	269	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	30					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.F30F(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TTATTGTGTCGAAGGGCTGCC	0.597													8	71					0	0	0	0	A	140683343	G	A	140683343	2	1	205	1	0	0	0	0	0	0	0	1	14570	1049	37	1		1	SLC25A2	5	140683343	Silent	SNP	G	TCGA-CR-7380-01A-11D-2012-08	8450871	140683343	40231917	32	36650											
MFAP3	4238	broad.mit.edu	37	chr5	153432559	153432559	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtgggctctatacctgtttCgtcacctctccaattcgtgc	5	14	8	14	3	3	0	1	0	2	0	6	0	3	0	3	1	2	2	3	1	3	4			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:153432559C>T	ENST00000436816.1	+	3	594	c.375C>T	c.(373-375)ttC>ttT	p.F125F	MFAP3_ENST00000439768.2_5'UTR|MFAP3_ENST00000322602.5_Silent_p.F125F	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	125	Ig-like C2-type.					integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATACCTGTTTCGTCACCTCTC	0.438													44	44					0	0	0	0	T	153432559	C	T	153432559	2	4	205	1	0	0	0	0	0	0	0	1	9584	883	31	1		1	MFAP3	5	153432559	Silent	SNP	C	TCGA-CR-7380-01A-11D-2012-08	12749216	153432559	27482701	33	36651											
NHP2	55651	broad.mit.edu	37	chr5	177577981	177577981	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgggcagtgtgtctcctgCcaaaaccatgatcctgaaat	12	10	9	10	0	1	2	0	2	1	0	3	2	2	2	4	1	2	1	4	1	4	0			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:177577981C>A	ENST00000274606.3	-	3	393	c.244G>T	c.(244-246)Gca>Tca	p.A82S	NHP2_ENST00000314397.4_Intron	NM_017838.3	NP_060308.1	Q9NX24	NHP2_HUMAN	NHP2 ribonucleoprotein	82					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			endometrium(1)|kidney(1)|ovary(2)	4						GTGTCTCCTGCCAAAACCATG	0.483													16	137					2.32078e-09	2.89585e-09	1	0	A	177577981	C	A	177577981	3	1	205	1	0	0	0	0	1	0	0	0	10479	739	26	4	225	4	NHP2	5	177577981	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	24145422	177577981	3337279	34	36652											
NEDD9	4739	broad.mit.edu	37	chr6	11191251	11191251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccggttctgcagctcctGgaatgtcacagttgtatttt	7	14	9	11	1	2	0	1	0	1	0	3	1	3	1	3	2	2	5	3	2	2	5			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:11191251G>T	ENST00000379446.5	-	5	1017	c.851C>A	c.(850-852)cCa>cAa	p.P284Q	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.P284Q	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	284					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGCAGCTCCTGGAATGTCACA	0.577													12	51					4.3838e-07	5.28304e-07	1	0	T	11191251	G	T	11191251	3	4	205	1	0	0	0	0	1	0	0	0	10383	1348	47	4	1665	4	NEDD9	6	11191251	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08		11191251	159923816	35	36653											
DCDC2	51473	broad.mit.edu	37	chr6	24302242	24302242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctaaagcgagctgacaCgttgatcctgctatggatta	10	14	9	8	2	1	2	0	2	1	0	2	4	2	3	1	1	3	3	1	1	4	6			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:24302242C>T	ENST00000378454.3	-	3	680	c.379G>A	c.(379-381)Gtg>Atg	p.V127M		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	127					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CGAGCTGACACGTTGATCCTG	0.353													22	43					0	0	0	0	T	24302242	C	T	24302242	3	4	205	1	0	0	0	0	1	0	0	0	4317	536	19	1	1083	1	DCDC2	6	24302242	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	13110991	24302242	146812825	36	36654											
DDR1	780	broad.mit.edu	37	chr6	30856982	30856982	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctcttcaccctcaggttGgagagcagtgacggggatgg	7	8	14	12	1	3	2	2	1	1	1	3	4	3	3	3	5	1	2	3	5	0	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:30856982G>A	ENST00000324771.8	+	6	740	c.192G>A	c.(190-192)ttG>ttA	p.L64L	DDR1_ENST00000513240.1_Silent_p.L64L|DDR1_ENST00000376567.2_Silent_p.L64L|DDR1_ENST00000508312.1_Silent_p.L82L|DDR1_ENST00000446312.1_Silent_p.L64L|DDR1_ENST00000376575.3_Silent_p.L64L|DDR1_ENST00000376569.3_Silent_p.L64L|DDR1_ENST00000376570.4_Silent_p.L64L|DDR1_ENST00000454612.2_Silent_p.L64L|DDR1_ENST00000376568.3_Silent_p.L64L|DDR1_ENST00000418800.2_Silent_p.L64L|DDR1_ENST00000452441.1_Silent_p.L64L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	64	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCCTCAGGTTGGAGAGCAGTG	0.602													65	137					0	0	0	0	A	30856982	G	A	30856982	2	1	205	1	0	0	0	0	0	0	0	1	4368	1339	47	4		4	DDR1	6	30856982	Silent	SNP	G	TCGA-CR-7380-01A-11D-2012-08	6554740	30856982	140258085	37	36655											
OOEP	441161	broad.mit.edu	37	chr6	74078519	74078519	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgtcttaagcaacaggAtcctggggagagtgggggtc	9	10	16	6	0	1	1	0	0	1	1	3	3	2	2	1	5	2	2	1	5	2	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:74078519A>T	ENST00000370363.1	-	4	765	c.273T>A	c.(271-273)gaT>gaA	p.D91E	OOEP_ENST00000370359.5_Missense_Mutation_p.D146E			A6NGQ2	OOEP_HUMAN	oocyte expressed protein	146	KH; atypical.					cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						AAGCAACAGGATCCTGGGGAG	0.423													4	45					0	0	0	0	T	74078519	A	T	74078519	3	4	205	1	0	0	0	0	1	0	0	0	10941	330	12	5	15	5	OOEP	6	74078519	Missense_Mutation	SNP	A	TCGA-CR-7380-01A-11D-2012-08	43221537	74078519	97036548	38	36656											
RAET1E	135250	broad.mit.edu	37	chr6	150209677	150209677	+	Frame_Shift_Del	DEL	T	T	-																															gaccagcctgccactcaccaTtttgccaccagacacagatg																										TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:150209677delT	ENST00000357183.4	-	4	881	c.749delA	c.(748-750)atfs	p.N250fs	RP11-244K5.1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000532335.1_Intron|RAET1E_ENST00000367363.3_Frame_Shift_Del_p.N214fs	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	250					antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCACTCACCATTTTGCCACCA	0.507													40	60	---	---	---	---					-	150209677	T	-	150209677	7	5	205	1	0	1	0	1	0	0	0	0	13081	1493	52	0	46	0	RAET1E	6	150209677	Frame_Shift_Del	DEL	T	TCGA-CR-7380-01A-11D-2012-08	76131158	150209677	20905390	39	36657											
CARD11	84433	broad.mit.edu	37	chr7	2954903	2954903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaagagcttggtggcgTccagcgaggaccgggccagg	8	5	17	11	3	1	1	1	0	0	1	2	3	2	2	3	5	2	1	3	5	1	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:2954903T>C	ENST00000396946.4	-	21	3210	c.2807A>G	c.(2806-2808)gAc>gGc	p.D936G		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	936					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTTGGTGGCGTCCAGCGAGGA	0.627			Mis		DLBCL								3	171					0	0	0	0	C	2954903	T	C	2954903	3	2	205	1	0	0	0	0	1	0	0	0	2670	1667	58	5	677	5	CARD11	7	2954903	Missense_Mutation	SNP	T	TCGA-CR-7380-01A-11D-2012-08		2954903	156183760	40	36658											
STK31	56164	broad.mit.edu	37	chr7	23825153	23825153	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttcttgatgctgagccCatgaaggaacttagcagcaa	12	10	10	9	0	2	3	0	3	2	0	2	5	2	4	1	1	5	3	1	1	4	3			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:23825153C>T	ENST00000354639.3	+	18	2600	c.2136C>T	c.(2134-2136)ccC>ccT	p.P712P	STK31_ENST00000355870.3_Silent_p.P735P|STK31_ENST00000433467.2_Silent_p.P735P|STK31_ENST00000428484.1_Silent_p.P712P|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	735	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGCTGAGCCCATGAAGGAAC	0.423													33	140					0	0	0	0	T	23825153	C	T	23825153	2	4	205	1	0	0	0	0	0	0	0	1	15386	581	21	4		4	STK31	7	23825153	Silent	SNP	C	TCGA-CR-7380-01A-11D-2012-08	20870250	23825153	135313510	41	36659											
SFRP4	6424	broad.mit.edu	37	chr7	37955724	37955724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccgtgacgatggcttcaGgcgagatgcacacgccacgg	8	6	15	12	5	1	2	1	1	0	1	2	4	2	2	2	4	1	2	2	4	0	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:37955724G>T	ENST00000436072.2	-	1	793	c.416C>A	c.(415-417)cCt>cAt	p.P139H	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	139	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GATGGCTTCAGGCGAGATGCA	0.652													71	59					1.7488e-33	2.30449e-33	1	0	T	37955724	G	T	37955724	3	4	205	1	0	0	0	0	1	0	0	0	14250	1000	35	4	648	4	SFRP4	7	37955724	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	14130571	37955724	121182939	42	36660											
TYW1	55253	broad.mit.edu	37	chr7	66703464	66703465	+	Frame_Shift_Ins	INS	-	-	G																															gaaagaggctttgatcccaaINSggacacaagacatcagagaa																										TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:66703464_66703465insG	ENST00000359626.5	+	16	2311_2312	c.2147_2148insG	c.(2146-2148)agafs	p.R716fs		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	716					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TTTGATCCCAAGGACACAAGAC	0.421													12	39	---	---	---	---					G	66703465	-	G	66703464	7	5	205	1	0	1	1	0	0	0	0	0	16914	72	3	0	2209	0	TYW1	7	66703464	Frame_Shift_Ins	INS	-	TCGA-CR-7380-01A-11D-2012-08	28747740	66703464	92435199	43	36661											
LEP	3952	broad.mit.edu	37	chr7	127894691	127894691	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggccagtggcctggagAccttggacagcctggggggt	5	7	18	11	0	0	1	0	0	0	1	0	3	0	2	5	7	1	0	5	7	0	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:127894691A>G	ENST00000308868.4	+	3	430	c.379A>G	c.(379-381)Acc>Gcc	p.T127A		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	127					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						TGGCCTGGAGACCTTGGACAG	0.607													11	36					0	0	0	0	G	127894691	A	G	127894691	3	3	205	1	0	0	0	0	1	0	0	0	8780	275	10	5	385	5	LEP	7	127894691	Missense_Mutation	SNP	A	TCGA-CR-7380-01A-11D-2012-08	61191227	127894691	31243972	44	36662											
NRF1	4899	broad.mit.edu	37	chr7	129297406	129297406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtgacagctcatctggCagctgcaggtagtgttgttt	7	13	14	7	0	2	2	1	2	1	0	2	2	2	2	0	3	3	7	0	3	1	3			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:129297406C>T	ENST00000393232.1	+	2	332	c.215C>T	c.(214-216)gCa>gTa	p.A72V	NRF1_ENST00000353868.4_Missense_Mutation_p.A72V|NRF1_ENST00000393230.2_Missense_Mutation_p.A72V|NRF1_ENST00000311967.2_Missense_Mutation_p.A72V|NRF1_ENST00000223190.4_Missense_Mutation_p.A72V|NRF1_ENST00000393231.3_Missense_Mutation_p.A72V|NRF1_ENST00000539636.1_5'UTR	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	72	Dimerization.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GCTCATCTGGCAGCTGCAGGT	0.463													14	33					0	0	0	0	T	129297406	C	T	129297406	3	4	205	1	0	0	0	0	1	0	0	0	10717	710	25	4	217	4	NRF1	7	129297406	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	1402715	129297406	29841257	45	36663											
EPHA1	2041	broad.mit.edu	37	chr7	143098584	143098584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcgggaagcctcctcccCgcggtagatccaattggagc	8	6	13	14	4	0	1	0	0	0	1	3	4	3	3	5	3	2	1	5	3	3	2	rs144146635		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:143098584C>T	ENST00000275815.3	-	3	351	c.265G>A	c.(265-267)Ggg>Agg	p.G89R		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	89						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCCTCCTCCCCGCGGTAGATC	0.607													82	112					0	0	0	0	T	143098584	C	T	143098584	3	4	205	1	0	0	0	0	1	0	0	0	5203	652	23	1	2729	1	EPHA1	7	143098584	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	13801178	143098584	16040079	46	36664											
ZNF212	7988	broad.mit.edu	37	chr7	148947811	148947811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgatggcgtctgtttcaccGagcaggaatgggagaatctg	10	10	14	7	2	3	2	1	1	2	1	3	5	3	3	1	3	1	2	1	3	2	1	rs145118937	by1000genomes	TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:148947811G>A	ENST00000335870.2	+	3	582	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	152	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CTGTTTCACCGAGCAGGAATG	0.498													58	75					0	0	0	0	A	148947811	G	A	148947811	3	1	205	1	0	0	0	0	1	0	0	0	17863	1059	37	1	464	1	ZNF212	7	148947811	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	5849227	148947811	10190852	47	36665											
KCNH2	3757	broad.mit.edu	37	chr7	150649889	150649889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatggtccagcggtggatgCgcggtgcctgcagcttgtac	5	9	17	10	3	0	0	0	0	0	0	1	2	1	2	2	5	6	3	2	5	1	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:150649889C>T	ENST00000392968.2	-	4	2013	c.893G>A	c.(892-894)cGc>cAc	p.R298H	KCNH2_ENST00000330883.4_Missense_Mutation_p.R54H|KCNH2_ENST00000262186.5_Missense_Mutation_p.R394H|KCNH2_ENST00000430723.3_Missense_Mutation_p.R394H			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	394	Poly-Pro.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCGGTGGATGCGCGGTGCCTG	0.647													7	82					0	0	0	0	T	150649889	C	T	150649889	3	4	205	1	0	0	0	0	1	0	0	0	8085	768	27	1	2607	1	KCNH2	7	150649889	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	1702078	150649889	8488774	48	36666											
NOM1	64434	broad.mit.edu	37	chr7	156762310	156762310	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagaacgcacaggcccaCagaagcgccgacgaagccaa	16	1	10	14	4	0	2	0	0	0	2	0	4	0	2	3	1	3	1	3	1	6	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:156762310C>T	ENST00000275820.3	+	11	2511	c.2496C>T	c.(2494-2496)caC>caT	p.H832H		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	832					RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CACAGGCCCACAGAAGCGCCG	0.507													33	94					0	0	0	0	T	156762310	C	T	156762310	2	4	205	1	0	0	0	0	0	0	0	1	10600	477	17	4		4	NOM1	7	156762310	Silent	SNP	C	TCGA-CR-7380-01A-11D-2012-08	6112421	156762310	2376353	49	36667											
CHD7	55636	broad.mit.edu	37	chr8	61707620	61707620	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacagaaggttctgaaaaTtcagacttagacaaaacacc	20	7	6	8	0	2	4	1	1	1	3	2	4	2	4	1	1	2	1	1	1	8	3			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:61707620T>A	ENST00000423902.2	+	4	2651	c.2172T>A	c.(2170-2172)aaT>aaA	p.N724K	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.N724K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	724					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTTCTGAAAATTCAGACTTAG	0.418													40	89					0	0	0	0	A	61707620	T	A	61707620	3	1	205	1	0	0	0	0	1	0	0	0	3359	1490	52	5	2182	5	CHD7	8	61707620	Missense_Mutation	SNP	T	TCGA-CR-7380-01A-11D-2012-08		61707620	84656402	50	36668											
TERF1	7013	broad.mit.edu	37	chr8	73921257	73921257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgaatgccaggaactgctcGagtgccaggtgcaggtgggg	8	7	17	9	2	0	0	0	0	0	0	2	3	0	1	2	5	5	2	2	5	2	0			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:73921257G>A	ENST00000276602.6	+	1	159	c.136G>A	c.(136-138)Gag>Aag	p.E46K	TERF1_ENST00000276603.5_Missense_Mutation_p.E46K	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	46	Asp/Glu-rich (acidic).				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGAACTGCTCGAGTGCCAGGT	0.672													4	49					0	0	0	0	A	73921257	G	A	73921257	3	1	205	1	0	0	0	0	1	0	0	0	15855	1059	37	1	138	1	TERF1	8	73921257	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	12213637	73921257	72442765	51	36669											
SLC26A7	115111	broad.mit.edu	37	chr8	92365190	92365191	+	Frame_Shift_Ins	INS	-	-	A																															ctaatacagttccgagatttINSaaaaaaatattggaatgtgg																										TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:92365190_92365191insA	ENST00000276609.3	+	11	1519_1520	c.1280_1281insA	c.(1279-1281)taafs	p.*427fs	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.*427fs|SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.*427fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	427						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTCCGAGATTTAAAAAAATATT	0.327													46	94	---	---	---	---					A	92365191	-	A	92365190	7	5	205	1	0	1	1	0	0	0	0	0	14610	1764	61	0	1318	0	SLC26A7	8	92365190	Frame_Shift_Ins	INS	-	TCGA-CR-7380-01A-11D-2012-08	18443933	92365190	53998832	52	36670											
VPS13B	157680	broad.mit.edu	37	chr8	100147902	100147902	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattcattgtttgattacCgaagcccagaaaataatggt	15	12	7	7	1	1	2	1	1	0	1	1	3	1	2	2	1	2	1	2	1	6	5			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:100147902C>T	ENST00000395996.1	+	11	1615	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	VPS13B_ENST00000355155.1_Nonsense_Mutation_p.R502*|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R502*|VPS13B_ENST00000358544.2_Nonsense_Mutation_p.R502*			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	502					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTTGATTACCGAAGCCCAGA	0.338													16	37					0	0	0	0	T	100147902	C	T	100147902	4	4	205	1	0	0	0	0	0	1	0	0	17286	644	23	1	1584	1	VPS13B	8	100147902	Nonsense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	7782712	100147902	46216120	53	36671											
COL22A1	169044	broad.mit.edu	37	chr8	139890008	139890008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactttcacaaagacggcGccgcagcttgccccggatct	8	8	9	16	4	3	1	2	0	1	1	3	2	3	2	3	2	2	2	3	2	1	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:139890008G>A	ENST00000303045.6	-	3	1089	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	COL22A1_ENST00000435777.1_Missense_Mutation_p.R215C	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	215					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAAAGACGGCGCCGCAGCTTG	0.662										HNSCC(7;0.00092)			17	30					0	0	0	0	A	139890008	G	A	139890008	3	1	205	1	0	0	0	0	1	0	0	0	3711	1087	38	1	4489	1	COL22A1	8	139890008	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	39742106	139890008	6474014	54	36672											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			16	7					0	0	0	0	A	21971120	G	A	21971120	4	1	205	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08		21971120	119242311	55	36673											
ELAVL2	1993	broad.mit.edu	37	chr9	23692607	23692607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agacctgcagtactctgtctCccagacggtatccattgagg	9	10	10	12	1	2	3	0	1	2	2	4	3	3	3	3	2	2	3	3	2	2	3			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:23692607C>T	ENST00000397312.2	-	7	1302	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E	ELAVL2_ENST00000380117.1_Missense_Mutation_p.G343E|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G373E|ELAVL2_ENST00000544538.1_Missense_Mutation_p.G343E|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G330E	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	343	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACTCTGTCTCCCAGACGGTA	0.408													18	25					0	0	0	0	T	23692607	C	T	23692607	3	4	205	1	0	0	0	0	1	0	0	0	5088	855	30	2	55	2	ELAVL2	9	23692607	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	1721487	23692607	117520824	56	36674											
TAF1L	138474	broad.mit.edu	37	chr9	32635310	32635310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatttaccaaggcaccgcCagtcccagtcaattcttcat	11	11	5	14	1	4	0	3	0	1	0	5	0	5	0	4	1	1	1	4	1	3	4			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:32635310C>T	ENST00000242310.4	-	1	357	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	90					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGGCACCGCCAGTCCCAGTC	0.488													67	139					0	0	0	0	T	32635310	C	T	32635310	3	4	205	1	0	0	0	0	1	0	0	0	15614	594	21	4	5216	4	TAF1L	9	32635310	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	8942703	32635310	108578121	57	36675											
NPR2	4882	broad.mit.edu	37	chr9	35799694	35799694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctgctgataagagcccGggaagactttggtgtggagc	8	10	15	8	2	1	3	0	1	1	2	2	5	1	5	1	3	3	1	1	3	2	2	rs144940095		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:35799694G>A	ENST00000342694.2	+	3	1208	c.953G>A	c.(952-954)cGg>cAg	p.R318Q		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	318					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATAAGAGCCCGGGAAGACTTT	0.527													10	87					0	0	0	0	A	35799694	G	A	35799694	3	1	205	1	0	0	0	0	1	0	0	0	10666	1116	39	1	963	1	NPR2	9	35799694	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	3164384	35799694	105413737	58	36676											
DAB2IP	153090	broad.mit.edu	37	chr9	124522454	124522454	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgctgcctcggtggcCgggcggcagttcgtggagaa	5	8	16	12	4	0	1	0	0	0	1	2	2	0	1	3	5	3	3	3	5	2	2	rs140379738		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:124522454C>T	ENST00000408936.3	+	6	1088	c.906C>T	c.(904-906)gcC>gcT	p.A302A	DAB2IP_ENST00000309989.1_Silent_p.A178A|DAB2IP_ENST00000259371.2_Silent_p.A274A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	302					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTCGGTGGCCGGGCGGCAGT	0.637													9	75					0	0	0	0	T	124522454	C	T	124522454	2	4	205	1	0	0	0	0	0	0	0	1	4252	639	23	1		1	DAB2IP	9	124522454	Silent	SNP	C	TCGA-CR-7380-01A-11D-2012-08	88722760	124522454	16690977	59	36677											
PKN3	29941	broad.mit.edu	37	chr9	131476379	131476379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggctgcagaggcaggaaCgcatcttctctaaacgcaga	11	6	11	13	3	2	2	0	0	2	2	3	3	2	3	1	3	3	5	1	3	3	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:131476379C>T	ENST00000291906.4	+	10	1684	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	431					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GAGGCAGGAACGCATCTTCTC	0.627													28	99					0	0	0	0	T	131476379	C	T	131476379	3	4	205	1	0	0	0	0	1	0	0	0	12053	536	19	1	1329	1	PKN3	9	131476379	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	6953925	131476379	9737052	60	36678											
LRRC8A	56262	broad.mit.edu	37	chr9	131678559	131678559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagtgcccactgctcaagcGcagcggcttggtggtggagg	6	7	17	11	3	1	0	1	0	0	0	1	2	1	1	1	5	4	3	1	5	1	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:131678559G>A	ENST00000259324.5	+	4	2865	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	LRRC8A_ENST00000372600.4_Missense_Mutation_p.R781H|LRRC8A_ENST00000372599.3_Missense_Mutation_p.R781H|LRRC8A_ENST00000492784.1_3'UTR	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	781					pre-B cell differentiation	integral to membrane		p.R781H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTGCTCAAGCGCAGCGGCTTG	0.672													20	38					0	0	0	0	A	131678559	G	A	131678559	3	1	205	1	0	0	0	0	1	0	0	0	9085	1087	38	1	2348	1	LRRC8A	9	131678559	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	202180	131678559	9534872	61	36679											
PHYHD1	254295	broad.mit.edu	37	chr9	131696086	131696086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagactatttcttgagcaGtggtgacaagattcgattct	11	13	9	8	1	2	4	0	2	2	2	3	5	2	4	0	1	1	1	0	1	2	5			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:131696086G>T	ENST00000372592.3	+	5	1151	c.218G>T	c.(217-219)aGt>aTt	p.S73I	PHYHD1_ENST00000308941.5_Missense_Mutation_p.S73I|PHYHD1_ENST00000421063.2_Missense_Mutation_p.S73I|PHYHD1_ENST00000353176.5_Missense_Mutation_p.S73I	NM_001100876.1	NP_001094346.1			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						TTCTTGAGCAGTGGTGACAAG	0.552											OREG0003917	type=REGULATORY REGION|Gene=AK130919|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	64	91					5.10652e-33	6.66685e-33	1	0	T	131696086	G	T	131696086	3	4	205	1	0	0	0	0	1	0	0	0	11937	1029	36	4	228	4	PHYHD1	9	131696086	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	17527	131696086	9517345	62	36680											
NOTCH1	4851	broad.mit.edu	37	chr9	139405168	139405168	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccggcctggcagtggcAgcggtagccgccgtgggtgt	4	7	19	11	4	0	0	0	0	0	0	0	0	0	0	4	5	3	4	4	5	2	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:139405168A>T	ENST00000277541.6	-	17	2752	c.2677T>A	c.(2677-2679)Tgc>Agc	p.C893S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	893	EGF-like 23; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCAGTGGCAGCGGTAGCCG	0.692			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			13	26					0	0	0	0	T	139405168	A	T	139405168	3	4	205	1	0	0	0	0	1	0	0	0	10617	188	7	5	5062	5	NOTCH1	9	139405168	Missense_Mutation	SNP	A	TCGA-CR-7380-01A-11D-2012-08	7709082	139405168	1808263	63	36681											
ITGB1	3688	broad.mit.edu	37	chr10	33217097	33217097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actttttacattctccaaatCgtctttcattgagtaagaca	12	16	4	9	1	3	2	1	1	2	1	5	2	3	2	1	0	1	1	1	0	3	7			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr10:33217097C>T	ENST00000396033.2	-	5	607	c.472G>A	c.(472-474)Gat>Aat	p.D158N	ITGB1_ENST00000302278.3_Missense_Mutation_p.D158N|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000423113.1_Missense_Mutation_p.D158N|ITGB1_ENST00000374956.4_Missense_Mutation_p.D158N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	158	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTCTCCAAATCGTCTTTCATT	0.393													18	61					0	0	0	0	T	33217097	C	T	33217097	3	4	205	1	0	0	0	0	1	0	0	0	7943	884	31	1	2210	1	ITGB1	10	33217097	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08		33217097	102317650	64	36682											
TSPAN15	23555	broad.mit.edu	37	chr10	71258083	71258083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagattggagcaagaatcaGtaccacgactgcagtgcccc	12	6	11	12	2	1	2	1	0	0	2	1	5	1	3	3	1	4	3	3	1	3	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr10:71258083G>A	ENST00000373290.2	+	5	623	c.501G>A	c.(499-501)caG>caA	p.Q167Q	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	167						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						GCAAGAATCAGTACCACGACT	0.627													18	27					0	0	0	0	A	71258083	G	A	71258083	2	1	205	1	0	0	0	0	0	0	0	1	16734	1020	36	4		4	TSPAN15	10	71258083	Silent	SNP	G	TCGA-CR-7380-01A-11D-2012-08	38040986	71258083	64276664	65	36683											
SORCS1	114815	broad.mit.edu	37	chr10	108389025	108389025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacctgcacggtcacaCggaaaatgcccacgttctga	10	8	9	14	3	2	1	1	1	1	0	3	2	3	2	3	2	2	2	3	2	2	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr10:108389025C>T	ENST00000263054.6	-	19	2604	c.2597G>A	c.(2596-2598)cGt>cAt	p.R866H	SORCS1_ENST00000344440.6_Missense_Mutation_p.R866H|SORCS1_ENST00000369698.1_Missense_Mutation_p.R401H	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	866	PKD.					integral to membrane	neuropeptide receptor activity|protein binding	p.R866H(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CACGGTCACACGGAAAATGCC	0.473													9	24					0	0	0	0	T	108389025	C	T	108389025	3	4	205	1	0	0	0	0	1	0	0	0	15018	536	19	1	1175	1	SORCS1	10	108389025	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	37130942	108389025	27145722	66	36684											
SLC22A11	55867	broad.mit.edu	37	chr11	64337279	64337279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtgctgttcttcctccCggagacccagggacttccgc	4	11	12	14	2	1	1	0	0	1	1	4	3	4	2	4	3	1	3	4	3	0	4			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr11:64337279C>T	ENST00000301891.4	+	9	1912	c.1538C>T	c.(1537-1539)cCg>cTg	p.P513L	SLC22A11_ENST00000377585.3_Missense_Mutation_p.P405L|SLC22A11_ENST00000377581.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	513					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TTCTTCCTCCCGGAGACCCAG	0.627													32	89					0	0	0	0	T	64337279	C	T	64337279	3	4	205	1	0	0	0	0	1	0	0	0	14530	652	23	1	1572	1	SLC22A11	11	64337279	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08		64337279	70669237	67	36685											
KIAA1377	57562	broad.mit.edu	37	chr11	101818768	101818768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattatctctttagtttcccGaaaaccagttcctccattag	10	16	4	11	1	1	0	0	0	1	0	5	1	4	0	4	0	1	2	4	0	6	7			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr11:101818768G>A	ENST00000263468.8	+	4	671	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	134							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTAGTTTCCCGAAAACCAGTT	0.338													11	15					0	0	0	0	A	101818768	G	A	101818768	3	1	205	1	0	0	0	0	1	0	0	0	8278	1058	37	1	415	1	KIAA1377	11	101818768	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	37481489	101818768	33187748	68	36686											
ATM	472	broad.mit.edu	37	chr11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaagtattcttcaggatttCgtaatattgccgtcaaagaa	14	13	8	6	2	3	1	2	0	1	1	4	3	3	2	1	1	1	2	1	1	6	7	rs138398778		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr11:108117798C>T	ENST00000278616.4	+	8	1394	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ATM_ENST00000452508.2_Missense_Mutation_p.R337C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTCAGGATTTCGTAATATTGC	0.323			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			17	5					0	0	0	0	T	108117798	C	T	108117798	3	4	205	1	0	0	0	0	1	0	0	0	1113	884	31	1	1035	1	ATM	11	108117798	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	6299030	108117798	26888718	69	36687											
KDM5A	5927	broad.mit.edu	37	chr12	475139	475139	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaaaagctcatatgggtaGagaattctttcataatgtga	14	13	10	4	0	3	2	2	1	1	1	3	4	3	3	0	2	1	2	0	2	6	5			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:475139G>C	ENST00000399788.2	-	4	860	c.498C>G	c.(496-498)ctC>ctG	p.L166L	KDM5A_ENST00000382815.4_Silent_p.L166L	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	166	ARID.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L166L(4)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CATATGGGTAGAGAATTCTTT	0.393			T	NUP98	AML								8	224					0	0	0	0	C	475139	G	C	475139	2	2	205	1	0	0	0	0	0	0	0	1	8185	929	33	2		2	KDM5A	12	475139	Silent	SNP	G	TCGA-CR-7380-01A-11D-2012-08		475139	133376756	70	36688											
OR6C74	254783	broad.mit.edu	37	chr12	55641374	55641375	+	Frame_Shift_Del	DEL	CA	CA	-																															tgtgcagcacagctgtttttCactattctcttgggggcaac																										TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:55641374_55641375delCA	ENST00000343870.4	+	1	393_394	c.303_304delCA	c.(301-306)ttctfs	p.FT101fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AGCTGTTTTTCACTATTCTCTT	0.436													48	209	---	---	---	---					-	55641375	CA	-	55641374	7	5	205	1	0	1	0	1	0	0	0	0	11269	825	29	0	305	0	OR6C74	12	55641374	Frame_Shift_Del	DEL	CA	TCGA-CR-7380-01A-11D-2012-08	55166235	55641374	78210521	71	36689											
TMCC3	57458	broad.mit.edu	37	chr12	94965489	94965489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctccagcttagaaatgcGagtctggcaggattccaagg	11	8	13	9	1	1	1	0	0	1	1	3	4	3	2	2	3	3	3	2	3	3	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:94965489G>A	ENST00000261226.4	-	4	1287	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	TMCC3_ENST00000551457.1_Missense_Mutation_p.R355C	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	386						integral to membrane		p.R386G(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTAGAAATGCGAGTCTGGCAG	0.547													30	62					0	0	0	0	A	94965489	G	A	94965489	3	1	205	1	0	0	0	0	1	0	0	0	16088	1058	37	1	281	1	TMCC3	12	94965489	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	39324115	94965489	38886406	72	36690											
SLC5A8	160728	broad.mit.edu	37	chr12	101551086	101551086	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccattgctcttgccacTctgatctgagttcaattcaa	9	14	6	12	0	5	2	2	2	3	0	6	2	6	2	2	0	2	2	2	0	2	4			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:101551086T>C	ENST00000536262.2	-	15	2362	c.1804A>G	c.(1804-1806)Agt>Ggt	p.S602G		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	602					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCTTGCCACTCTGATCTGAG	0.368													4	37					0	0	0	0	C	101551086	T	C	101551086	3	2	205	1	0	0	0	0	1	0	0	0	14759	1551	54	5	32	5	SLC5A8	12	101551086	Missense_Mutation	SNP	T	TCGA-CR-7380-01A-11D-2012-08	6585597	101551086	32300809	73	36691											
CUX2	23316	broad.mit.edu	37	chr12	111785858	111785858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggaggtgtcactgaactCgccctcggccgcctcctcac	5	8	10	18	3	2	1	2	1	0	0	5	2	3	2	5	3	1	0	5	3	1	0			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:111785858C>T	ENST00000261726.6	+	22	4344	c.4190C>T	c.(4189-4191)tCg>tTg	p.S1397L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1397	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCACTGAACTCGCCCTCGGCC	0.637													30	55					0	0	0	0	T	111785858	C	T	111785858	3	4	205	1	0	0	0	0	1	0	0	0	4097	893	31	1	4276	1	CUX2	12	111785858	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	10234772	111785858	22066037	74	36692											
SUDS3	64426	broad.mit.edu	37	chr12	118829084	118829084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgacaatggaactgactGgaggtaggaaagccctatgg	13	7	14	7	0	0	2	0	2	0	0	0	5	0	5	1	5	3	2	1	5	5	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:118829084G>A	ENST00000543473.1	+	6	826	c.514G>A	c.(514-516)Gga>Aga	p.G172R	SUDS3_ENST00000397564.2_Missense_Mutation_p.G173R	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	172					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAACTGACTGGAGGTAGGAA	0.463													16	110					0	0	0	0	A	118829084	G	A	118829084	3	1	205	1	0	0	0	0	1	0	0	0	15457	1349	47	4	536	4	SUDS3	12	118829084	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	7043226	118829084	15022811	75	36693											
HIP1R	9026	broad.mit.edu	37	chr12	123340573	123340573	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccaggtgaatgcactggAgggtgagctggaggagcagc	10	5	19	7	0	0	2	0	2	0	0	0	6	0	5	1	5	5	3	1	5	1	0			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:123340573A>G	ENST00000253083.4	+	14	1300	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	392					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AATGCACTGGAGGGTGAGCTG	0.682													6	6					0	0	0	0	G	123340573	A	G	123340573	3	3	205	1	0	0	0	0	1	0	0	0	7165	304	11	5	1229	5	HIP1R	12	123340573	Missense_Mutation	SNP	A	TCGA-CR-7380-01A-11D-2012-08	4511489	123340573	10511322	76	36694											
FRY	10129	broad.mit.edu	37	chr13	32805362	32805362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacatcacacctaaaaatCaaaattcaaagagtgctgaa	21	7	5	8	0	3	3	3	1	0	2	3	3	3	3	1	0	1	1	1	0	8	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:32805362C>A	ENST00000380250.3	+	41	5948	c.5452C>A	c.(5452-5454)Caa>Aaa	p.Q1818K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1818					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCTAAAAATCAAAATTCAAA	0.333													17	42					1.5739e-10	1.98142e-10	1	0	A	32805362	C	A	32805362	3	1	205	1	0	0	0	0	1	0	0	0	6111	827	29	2	5614	2	FRY	13	32805362	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08		32805362	82364516	77	36695											
SMAD9	4093	broad.mit.edu	37	chr13	37439827	37439827	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaatgtctccccaactcGgttgttcagttcatagtagg	8	13	10	10	1	3	0	2	0	1	0	5	1	3	1	2	3	1	4	2	3	4	5			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:37439827G>A	ENST00000379826.4	-	5	1192	c.850C>T	c.(850-852)Cga>Tga	p.R284*	SMAD9_ENST00000399275.2_Nonsense_Mutation_p.R284*|SMAD9_ENST00000350148.5_Nonsense_Mutation_p.R247*	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	284	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TCCCCAACTCGGTTGTTCAGT	0.498													11	32					0	0	0	0	A	37439827	G	A	37439827	4	1	205	1	0	0	0	0	0	1	0	0	14852	1124	39	1	565	1	SMAD9	13	37439827	Nonsense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	4634465	37439827	77730051	78	36696											
TNFSF11	8600	broad.mit.edu	37	chr13	43180950	43180950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtggattttttaagttaCggtctggagaggaaatcagc	10	14	13	4	1	2	1	1	0	1	1	2	4	2	3	0	5	2	1	0	5	3	5	rs150392469		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:43180950C>T	ENST00000398795.2	+	5	999	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	TNFSF11_ENST00000239849.6_Missense_Mutation_p.R284W|TNFSF11_ENST00000544862.1_Missense_Mutation_p.R211W|TNFSF11_ENST00000358545.2_Missense_Mutation_p.R211W|TNFSF11_ENST00000405262.2_Missense_Mutation_p.R211W	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	284					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TTTTAAGTTACGGTCTGGAGA	0.423													19	82					0	0	0	0	T	43180950	C	T	43180950	3	4	205	1	0	0	0	0	1	0	0	0	16396	527	19	1	868	1	TNFSF11	13	43180950	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	5741123	43180950	71988928	79	36697											
PIBF1	10464	broad.mit.edu	37	chr13	73468075	73468076	+	Frame_Shift_Ins	INS	-	-	A																															tggaatgtgaaaaatatcagINSaaaaaattggaggtacatgt																										TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:73468075_73468076insA	ENST00000326291.6	+	11	1814_1815	c.1476_1477insA	c.(1474-1479)caaaaafs	p.QK492fs		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	492						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAAAATATCAGAAAAAATTGGA	0.332													9	44	---	---	---	---					A	73468076	-	A	73468075	7	5	205	1	0	1	1	0	0	0	0	0	11951	933	33	0	1514	0	PIBF1	13	73468075	Frame_Shift_Ins	INS	-	TCGA-CR-7380-01A-11D-2012-08	30287125	73468075	41701803	80	36698											
MYO16	23026	broad.mit.edu	37	chr13	109661380	109661380	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggtaaccagaatggagttTtggacttttttttccaggta	9	16	10	6	0	0	1	0	0	0	1	1	3	1	3	2	4	1	3	2	4	3	8			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:109661380T>C	ENST00000356711.2	+	22	2638	c.2512T>C	c.(2512-2514)Ttg>Ctg	p.L838L	MYO16_ENST00000251041.5_Silent_p.L838L|MYO16_ENST00000457511.2_Silent_p.L350L|MYO16_ENST00000357550.2_Silent_p.L838L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	838					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAATGGAGTTTTGGACTTTTT	0.358													21	54					0	0	0	0	C	109661380	T	C	109661380	2	2	205	1	0	0	0	0	0	0	0	1	10134	1838	64	5		5	MYO16	13	109661380	Silent	SNP	T	TCGA-CR-7380-01A-11D-2012-08	36193305	109661380	5508498	81	36699											
CDH24	64403	broad.mit.edu	37	chr14	23517613	23517613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtaggtgatgatgttctctCggacgtcctcctcctccagt	5	13	10	13	3	1	2	0	2	1	0	7	3	5	3	4	2	0	2	4	2	1	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr14:23517613C>T	ENST00000397359.3	-	13	2295	c.2036G>A	c.(2035-2037)cGa>cAa	p.R679Q	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Missense_Mutation_p.R641Q|CDH24_ENST00000267383.5_Missense_Mutation_p.R679Q|CDH24_ENST00000487137.2_Missense_Mutation_p.R641Q	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	679					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GATGTTCTCTCGGACGTCCTC	0.682													8	201					0	0	0	0	T	23517613	C	T	23517613	3	4	205	1	0	0	0	0	1	0	0	0	3138	884	31	1	427	1	CDH24	14	23517613	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08		23517613	83831927	82	36700											
SERPINA1	5265	broad.mit.edu	37	chr14	94849078	94849078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccgaagttgacagtgaagGcttctgagtggtacaacttt	10	11	11	9	1	1	3	0	3	1	0	1	4	1	3	2	2	2	3	2	2	4	4	rs142942004		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr14:94849078G>A	ENST00000448921.1	-	4	1069	c.497C>T	c.(496-498)gCc>gTc	p.A166V	SERPINA1_ENST00000355814.4_Missense_Mutation_p.A166V|SERPINA1_ENST00000393088.4_Missense_Mutation_p.A166V|SERPINA1_ENST00000449399.3_Missense_Mutation_p.A166V|SERPINA1_ENST00000440909.1_Missense_Mutation_p.A166V|SERPINA1_ENST00000404814.4_Missense_Mutation_p.A166V|SERPINA1_ENST00000402629.1_Missense_Mutation_p.A166V|SERPINA1_ENST00000393087.4_Missense_Mutation_p.A166V|SERPINA1_ENST00000437397.1_Missense_Mutation_p.A166V	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	166					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	p.A166V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GACAGTGAAGGCTTCTGAGTG	0.498													80	99					0	0	0	0	A	94849078	G	A	94849078	3	1	205	1	0	0	0	0	1	0	0	0	14173	1203	42	4	775	4	SERPINA1	14	94849078	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	71331465	94849078	12500462	83	36701											
DLL4	54567	broad.mit.edu	37	chr15	41228839	41228839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcatggtggcagtggctGtgcggcagctgcggcttcga	4	9	19	9	3	0	0	0	0	0	0	1	1	0	0	0	6	3	6	0	6	0	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr15:41228839G>A	ENST00000249749.5	+	9	1930	c.1654G>A	c.(1654-1656)Gtg>Atg	p.V552M		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	552					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGCAGTGGCTGTGCGGCAGCT	0.667													12	23					0	0	0	0	A	41228839	G	A	41228839	3	1	205	1	0	0	0	0	1	0	0	0	4605	1377	48	4	1688	4	DLL4	15	41228839	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08		41228839	61302553	84	36702											
HERC1	8925	broad.mit.edu	37	chr15	63958585	63958585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catggctttggcaatctgccGaagagagaaccccatttcca	11	9	9	12	1	1	2	0	0	1	2	2	4	2	2	4	2	2	2	4	2	3	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr15:63958585G>A	ENST00000443617.2	-	41	8380	c.8293C>T	c.(8293-8295)Cgg>Tgg	p.R2765W		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2765					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCAATCTGCCGAAGAGAGAAC	0.428													23	75					0	0	0	0	A	63958585	G	A	63958585	3	1	205	1	0	0	0	0	1	0	0	0	7107	1057	37	1	6444	1	HERC1	15	63958585	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	22729746	63958585	38572807	85	36703											
AXIN1	8312	broad.mit.edu	37	chr16	396963	396963	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaccaggcactgggggtcgGggagcatcttcggtgaaact	8	8	15	10	2	2	1	1	1	1	0	4	2	2	2	1	6	2	2	1	6	1	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:396963G>A	ENST00000262320.3	-	2	434	c.63C>T	c.(61-63)ccC>ccT	p.P21P	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Silent_p.P21P	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	21					activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTGGGGGTCGGGGAGCATCTT	0.572													25	55					0	0	0	0	A	396963	G	A	396963	2	1	205	1	0	0	0	0	0	0	0	1	1240	1219	43	4		4	AXIN1	16	396963	Silent	SNP	G	TCGA-CR-7380-01A-11D-2012-08		396963	89957790	86	36704											
TBL3	10607	broad.mit.edu	37	chr16	2024602	2024602	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggcaagagggcagcgttAcccgcctgtggaaggcgata	9	6	15	11	3	0	1	0	0	0	1	0	3	0	2	3	4	2	3	3	4	4	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:2024602A>C	ENST00000568546.1	+	5	429	c.301A>C	c.(301-303)Acc>Ccc	p.T101P		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	101					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GGGCAGCGTTACCCGCCTGTG	0.662													7	36					0	0	0	0	C	2024602	A	C	2024602	3	2	205	1	0	0	0	0	1	0	0	0	15737	391	14	5	319	5	TBL3	16	2024602	Missense_Mutation	SNP	A	TCGA-CR-7380-01A-11D-2012-08	1627639	2024602	88330151	87	36705											
MMP25	64386	broad.mit.edu	37	chr16	3100422	3100422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactttgcccgcgccttccAccaggacagctaccccttcg	6	8	8	19	4	0	0	0	0	0	0	2	2	1	1	6	1	3	1	6	1	1	4			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:3100422A>G	ENST00000336577.4	+	4	773	c.536A>G	c.(535-537)cAc>cGc	p.H179R	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	179					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CGCGCCTTCCACCAGGACAGC	0.632													23	60					0	0	0	0	G	3100422	A	G	3100422	3	3	205	1	0	0	0	0	1	0	0	0	9732	159	6	5	550	5	MMP25	16	3100422	Missense_Mutation	SNP	A	TCGA-CR-7380-01A-11D-2012-08	1075820	3100422	87254331	88	36706											
PDILT	204474	broad.mit.edu	37	chr16	20371929	20371929	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagttttgatgtggctttcCaggaagtcagagaagccctt	9	14	11	7	0	1	2	1	1	0	1	2	4	2	3	2	2	1	2	2	2	3	5			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:20371929C>T	ENST00000302451.4	-	11	1715	c.1467G>A	c.(1465-1467)ctG>ctA	p.L489L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	489					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTGGCTTTCCAGGAAGTCAG	0.468													65	150					0	0	0	0	T	20371929	C	T	20371929	2	4	205	1	0	0	0	0	0	0	0	1	11745	581	21	4		4	PDILT	16	20371929	Silent	SNP	C	TCGA-CR-7380-01A-11D-2012-08	17271507	20371929	69982824	89	36707											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53720433	53720433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caactgagttttcaggatctCagccaagtgctctaactcct	10	12	7	12	0	3	1	2	1	2	0	5	2	4	2	2	1	4	2	2	1	3	3			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:53720433C>T	ENST00000262135.4	-	6	781	c.688G>A	c.(688-690)Gag>Aag	p.E230K	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E230K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E230K|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E230K	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	230					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TTCAGGATCTCAGCCAAGTGC	0.378													4	70					0	0	0	0	T	53720433	C	T	53720433	3	4	205	1	0	0	0	0	1	0	0	0	13635	835	29	2	3347	2	RPGRIP1L	16	53720433	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	33348504	53720433	36634320	90	36708											
CMTM4	146223	broad.mit.edu	37	chr16	66651242	66651242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattttttccttactgttaCgtttgtggagtaggaaaaac	10	17	9	5	1	0	1	0	1	0	0	1	3	1	3	1	2	3	3	1	2	5	7			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:66651242C>A	ENST00000330687.4	-	5	824	c.643G>T	c.(643-645)Gta>Tta	p.V215L		NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	215					chemotaxis	extracellular space|integral to membrane	cytokine activity			cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		CTTACTGTTACGTTTGTGGAG	0.363													12	21					9.31168e-06	1.11267e-05	1	0	A	66651242	C	A	66651242	3	1	205	1	0	0	0	0	1	0	0	0	3615	536	19	3	65	3	CMTM4	16	66651242	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	12930809	66651242	23703511	91	36709											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	19					0	0	0	0	A	7577094	G	A	7577094	3	1	205	1	0	0	0	0	1	0	0	0	16476	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08		7577094	73618116	92	36710											
ALOX15B	247	broad.mit.edu	37	chr17	7951079	7951079	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtttgactcctgtgcttGgatgcccaacctgccaccca	7	11	8	15	0	1	1	1	1	0	0	2	2	2	2	5	1	4	2	5	1	1	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:7951079G>A	ENST00000380183.4	+	13	1836	c.1697G>A	c.(1696-1698)tGg>tAg	p.W566*	ALOX15B_ENST00000572022.1_Nonsense_Mutation_p.W554*|ALOX15B_ENST00000573359.1_Nonsense_Mutation_p.W492*|ALOX15B_ENST00000380173.2_Nonsense_Mutation_p.W537*	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	566	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TCCTGTGCTTGGATGCCCAAC	0.632													17	56					0	0	0	0	A	7951079	G	A	7951079	4	1	205	1	0	0	0	0	0	1	0	0	539	1357	47	4	1747	4	ALOX15B	17	7951079	Nonsense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	373985	7951079	73244131	93	36711											
TOP3A	7156	broad.mit.edu	37	chr17	18198059	18198059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatcctcatggtttctttaGcatttattctcaactttcga	9	18	4	10	1	3	0	2	0	2	0	6	1	4	0	1	1	2	2	1	1	4	7			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:18198059G>A	ENST00000321105.5	-	10	1245	c.1031C>T	c.(1030-1032)gCt>gTt	p.A344V	TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Missense_Mutation_p.A249V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	344					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGTTTCTTTAGCATTTATTCT	0.423													13	48					0	0	0	0	A	18198059	G	A	18198059	3	1	205	1	0	0	0	0	1	0	0	0	16462	971	34	4	2014	4	TOP3A	17	18198059	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	10246980	18198059	62997151	94	36712											
CACNB1	782	broad.mit.edu	37	chr17	37331582	37331584	+	In_Frame_Del	DEL	TCT	TCT	-																															cggtcagctcttcctcatagTcttcttcctcgtcctcccag																										TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:37331582_37331584delTCT	ENST00000394303.3	-	14	1866_1868	c.1659_1661delAGA	c.(1657-1662)gac>ga	p.ED553del	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	553					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	TTCCTCATAGTCTTCTTCCTCGT	0.645											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	321	---	---	---	---					-	37331584	TCT	-	37331582	7	5	205	1	0	1	0	1	0	0	0	0	2577	1667	58	0	139	0	CACNB1	17	37331582	In_Frame_Del	DEL	TCT	TCGA-CR-7380-01A-11D-2012-08	19133523	37331582	43863628	95	36713											
KRT36	8689	broad.mit.edu	37	chr17	39643859	39643859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaggcctccacatctctgCggttattctccaccagggcc	7	9	8	17	1	2	0	0	0	2	0	5	0	3	0	6	3	1	1	6	3	1	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:39643859C>T	ENST00000393986.2	-	5	892	c.680G>A	c.(679-681)cGc>cAc	p.R227H	KRT36_ENST00000328119.6_Missense_Mutation_p.R277H			O76013	KRT36_HUMAN	keratin 36	277	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CACATCTCTGCGGTTATTCTC	0.592													31	85					0	0	0	0	T	39643859	C	T	39643859	3	4	205	1	0	0	0	0	1	0	0	0	8525	768	27	1	589	1	KRT36	17	39643859	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	2312277	39643859	41551351	96	36714											
SLC38A10	124565	broad.mit.edu	37	chr17	79220126	79220126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccccggcttccctggCggggtctggcacgggcacct	2	7	16	16	3	1	0	0	0	1	0	2	0	2	0	4	7	0	3	4	7	0	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:79220126C>T	ENST00000374759.3	-	16	2973	c.2590G>A	c.(2590-2592)Gcc>Acc	p.A864T		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	864					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTTCCCTGGCGGGGTCTGGC	0.657													21	61					0	0	0	0	T	79220126	C	T	79220126	3	4	205	1	0	0	0	0	1	0	0	0	14690	768	27	1	773	1	SLC38A10	17	79220126	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	39576267	79220126	1975084	97	36715											
KDM4B	23030	broad.mit.edu	37	chr19	5151410	5151410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccaaggccgccaagcGcccgcgtgtgggcaccccgc	6	2	16	17	5	0	0	0	0	0	0	0	1	0	1	6	4	1	1	6	4	2	0			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:5151410G>A	ENST00000159111.4	+	23	3397	c.3179G>A	c.(3178-3180)cGc>cAc	p.R1060H	KDM4B_ENST00000536461.1_Missense_Mutation_p.R1094H	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	1060					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCCGCCAAGCGCCCGCGTGTG	0.721													4	5					0	0	0	0	A	5151410	G	A	5151410	3	1	205	1	0	0	0	0	1	0	0	0	8182	1087	38	1	3261	1	KDM4B	19	5151410	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08		5151410	53977573	98	36716											
MUC16	94025	broad.mit.edu	37	chr19	9048094	9048094	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgaccaatgaagttgtGgtctctggttcatcagaaga	10	12	13	6	0	3	4	2	2	1	2	4	4	3	4	1	3	0	2	1	3	3	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:9048094G>T	ENST00000397910.4	-	5	33740	c.33537C>A	c.(33535-33537)acC>acA	p.T11179T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11181	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						ATGAAGTTGTGGTCTCTGGTT	0.463													9	34					0.000274275	0.000322273	1	0	T	9048094	G	T	9048094	2	4	205	1	0	0	0	0	0	0	0	1	10043	1335	47	4		4	MUC16	19	9048094	Silent	SNP	G	TCGA-CR-7380-01A-11D-2012-08	3896684	9048094	50080889	99	36717											
LPPR2	64748	broad.mit.edu	37	chr19	11470367	11470367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcctgctcttgtctacGcactggtcactgccgggccc	3	11	10	17	2	3	0	1	0	2	0	4	0	4	0	4	2	4	2	4	2	1	2	rs142818555		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:11470367G>A	ENST00000251473.5	+	4	602	c.226G>A	c.(226-228)Gca>Aca	p.A76T	DKFZP761J1410_ENST00000586431.1_3'UTR|DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.A51T	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TCTTGTCTACGCACTGGTCAC	0.637													10	38					0	0	0	0	A	11470367	G	A	11470367	3	1	205	1	0	0	0	0	1	0	0	0	8989	1087	38	1	232	1	LPPR2	19	11470367	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	2422273	11470367	47658616	100	36718											
ZNF44	51710	broad.mit.edu	37	chr19	12358500	12358500	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggctttcccacattccttAcatttgtagggtttctctcc	7	16	6	12	0	1	0	0	0	1	0	5	0	4	0	3	2	1	3	3	2	3	6			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:12358500A>G	ENST00000426973.1	-	4	1214	c.1215T>C	c.(1213-1215)tgT>tgC	p.C405C				P15621	ZNF44_HUMAN	zinc finger protein 44	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CACATTCCTTACATTTGTAGG	0.373													2	7					0	0	0	0	G	12358500	A	G	12358500	2	3	205	1	0	0	0	0	0	0	0	1	18007	406	14	5		5	ZNF44	19	12358500	Silent	SNP	A	TCGA-CR-7380-01A-11D-2012-08	888133	12358500	46770483	101	36719											
DCAF15	90379	broad.mit.edu	37	chr19	14069867	14069867	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttcttaggtgacaggagTttctgccaaatcctgtatga	9	14	9	9	0	3	2	0	2	3	0	4	3	4	3	2	2	1	2	2	2	3	4			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:14069867T>C	ENST00000254337.6	+	7	816	c.795T>C	c.(793-795)agT>agC	p.S265S		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	265										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GTGACAGGAGTTTCTGCCAAA	0.622													50	68					0	0	0	0	C	14069867	T	C	14069867	2	2	205	1	0	0	0	0	0	0	0	1	4300	1722	60	5		5	DCAF15	19	14069867	Silent	SNP	T	TCGA-CR-7380-01A-11D-2012-08	1711367	14069867	45059116	102	36720											
NOTCH3	4854	broad.mit.edu	37	chr19	15284919	15284919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcccgacgggcccggggttCggagccaggactaggccggt	5	5	17	14	5	0	0	0	0	0	0	2	3	1	2	4	7	1	1	4	7	1	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:15284919C>T	ENST00000263388.2	-	25	4771	c.4696G>A	c.(4696-4698)Gaa>Aaa	p.E1566K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1566					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCCGGGGTTCGGAGCCAGGA	0.692													11	35					0	0	0	0	T	15284919	C	T	15284919	3	4	205	1	0	0	0	0	1	0	0	0	10620	893	31	1	2305	1	NOTCH3	19	15284919	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	1215052	15284919	43844064	103	36721											
GALP	85569	broad.mit.edu	37	chr19	56693617	56693617	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctagacctgtggaaggcCatcggtgagtgagcggggag	9	7	17	8	2	0	3	0	2	0	1	2	5	1	5	3	5	1	0	3	5	2	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:56693617C>T	ENST00000357330.2	+	4	295	c.213C>T	c.(211-213)gcC>gcT	p.A71A	GALP_ENST00000440823.1_3'UTR	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	71					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TGTGGAAGGCCATCGGTGAGT	0.587													14	18					0	0	0	0	T	56693617	C	T	56693617	2	4	205	1	0	0	0	0	0	0	0	1	6275	581	21	4		4	GALP	19	56693617	Silent	SNP	C	TCGA-CR-7380-01A-11D-2012-08	41408698	56693617	2435366	104	36722											
PLCB1	23236	broad.mit.edu	37	chr20	8755221	8755221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgatcatggttcatcaaCgattgagcaagacctcgctg	10	10	9	12	2	3	3	3	2	0	1	4	4	3	3	2	1	2	3	2	1	2	2			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr20:8755221C>T	ENST00000378641.3	+	27	3441	c.2966C>T	c.(2965-2967)aCg>aTg	p.T989M	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.T989M|PLCB1_ENST00000338037.6_Missense_Mutation_p.T989M	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	989					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.T989M(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGTTCATCAACGATTGAGCAA	0.463													42	89					0	0	0	0	T	8755221	C	T	8755221	3	4	205	1	0	0	0	0	1	0	0	0	12099	536	19	1	3072	1	PLCB1	20	8755221	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08		8755221	54270299	105	36723											
ACSS1	84532	broad.mit.edu	37	chr20	24994664	24994664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcagggaggatttccGccccttcttccgagggccgt	5	9	13	14	3	1	0	0	0	1	0	3	3	3	2	6	4	0	1	6	4	0	3			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr20:24994664G>A	ENST00000537502.1	-	7	2667	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V	ACSS1_ENST00000432802.2_Missense_Mutation_p.A462V|ACSS1_ENST00000323482.4_Missense_Mutation_p.A462V|ACSS1_ENST00000542618.1_Missense_Mutation_p.A341V			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	462					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAGGATTTCCGCCCCTTCTTC	0.587													8	18					0	0	0	0	A	24994664	G	A	24994664	3	1	205	1	0	0	0	0	1	0	0	0	188	1087	38	1	708	1	ACSS1	20	24994664	Missense_Mutation	SNP	G	TCGA-CR-7380-01A-11D-2012-08	16239443	24994664	38030856	106	36724											
CTNNBL1	56259	broad.mit.edu	37	chr20	36407685	36407685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctaatgcttagttccaatCgtgagcgcttcctgaagggc	8	12	11	10	2	1	2	0	2	1	0	4	2	3	2	2	1	2	3	2	1	4	4			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr20:36407685C>T	ENST00000405275.2	+	11	1141	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	CTNNBL1_ENST00000373469.1_Missense_Mutation_p.R75C|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.R327C|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.R140C			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	327					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TAGTTCCAATCGTGAGCGCTT	0.483													6	94					0	0	0	0	T	36407685	C	T	36407685	3	4	205	1	0	0	0	0	1	0	0	0	4050	884	31	1	1017	1	CTNNBL1	20	36407685	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	11413021	36407685	26617835	107	36725											
ZNF831	128611	broad.mit.edu	37	chr20	57767141	57767141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgacagcgcggagcagcCgcatgcgccctgcagccccc	6	3	12	20	5	0	0	0	0	0	0	1	2	1	1	5	1	6	3	5	1	0	0			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr20:57767141C>T	ENST00000371030.2	+	1	1067	c.1067C>T	c.(1066-1068)cCg>cTg	p.P356L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	356						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCGGAGCAGCCGCATGCGCCC	0.756													23	16					0	0	0	0	T	57767141	C	T	57767141	3	4	205	1	0	0	0	0	1	0	0	0	18278	652	23	1	1069	1	ZNF831	20	57767141	Missense_Mutation	SNP	C	TCGA-CR-7380-01A-11D-2012-08	21359456	57767141	5258379	108	36726											
CELSR1	9620	broad.mit.edu	37	chr22	46776786	46776786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctccaggggtctcgggagCggagccccctcgctgtacac	5	7	13	16	3	2	0	0	0	2	0	5	2	2	2	3	4	3	2	3	4	1	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr22:46776786C>T	ENST00000262738.3	-	22	7154	c.7155G>A	c.(7153-7155)ccG>ccA	p.P2385P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2385					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTCTCGGGAGCGGAGCCCCCT	0.627													17	38					0	0	0	0	T	46776786	C	T	46776786	2	4	205	1	0	0	0	0	0	0	0	1	3250	755	27	1		1	CELSR1	22	46776786	Silent	SNP	C	TCGA-CR-7380-01A-11D-2012-08		46776786	4527780	109	36727											
PLXNB2	23654	broad.mit.edu	37	chr22	50716420	50716420	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgctctggaagaagttgTccacaaactgctgcagtgtg	10	9	12	10	1	1	1	0	0	1	1	2	2	2	2	1	1	3	5	1	1	3	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr22:50716420T>C	ENST00000449103.1	-	32	5050	c.4910A>G	c.(4909-4911)gAc>gGc	p.D1637G	PLXNB2_ENST00000359337.4_Missense_Mutation_p.D1637G			O15031	PLXB2_HUMAN	plexin B2	1637					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGAAGTTGTCCACAAACTG	0.657													22	37					0	0	0	0	C	50716420	T	C	50716420	3	2	205	1	0	0	0	0	1	0	0	0	12196	1667	58	5	630	5	PLXNB2	22	50716420	Missense_Mutation	SNP	T	TCGA-CR-7380-01A-11D-2012-08	3939634	50716420	588146	110	36728											
PASD1	139135	broad.mit.edu	37	chrX	150832808	150832808	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacctgggggctgctggCgcaagtgctcaggtactctg	5	9	17	10	1	2	0	1	0	1	0	2	1	2	1	1	5	3	5	1	5	2	1			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chrX:150832808C>T	ENST00000370357.4	+	11	1304	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	353						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTGCTGGCGCAAGTGCTC	0.552													12	23					0	0	0	0	T	150832808	C	T	150832808	2	4	205	1	0	0	0	0	0	0	0	1	11542	755	27	1		1	PASD1	23	150832808	Silent	SNP	C	TCGA-CR-7380-01A-11D-2012-08		150832808	4437752	111	36729											
ZNF362	149076	broad.mit.edu	37	chr1	33745847	33745847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccagagccgcctcatcGcctcgtcccccaccctcatc	6	6	6	23	3	2	1	2	0	0	1	6	1	3	1	8	0	2	0	8	0	0	0			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr1:33745847G>A	ENST00000539719.1	+	5	642	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	ZNF362_ENST00000373428.5_Missense_Mutation_p.A158T	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCGCCTCATCGCCTCGTCCCC	0.682													8	124					0	0	0	0	A	33745847	G	A	33745847	3	1	206	1	0	0	0	0	1	0	0	0	17963	1087	38	1	486	1	ZNF362	1	33745847	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08		33745847	215504774	1	36730											
DBT	1629	broad.mit.edu	37	chr1	100672165	100672165	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatcaaaccctgctcagtatCcattgctatcccaatgttat	12	13	4	12	0	2	0	2	0	0	0	4	0	4	0	3	0	3	4	3	0	6	4			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr1:100672165C>G	ENST00000370132.3	-	9	1058	c.1045G>C	c.(1045-1047)Gat>Cat	p.D349H		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	349					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TGCTCAGTATCCATTGCTATC	0.388													33	252					0	0	0	0	G	100672165	C	G	100672165	3	3	206	1	0	0	0	0	1	0	0	0	4291	855	30	2	415	2	DBT	1	100672165	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	66926318	100672165	148578456	2	36731											
PSMB4	5692	broad.mit.edu	37	chr1	151373293	151373293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatgaagccccttcgctggCcactggttatggtgcatact	7	12	10	12	1	0	1	0	1	0	0	1	1	0	1	3	3	3	3	3	3	4	4			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr1:151373293C>T	ENST00000290541.6	+	4	602	c.548C>T	c.(547-549)gCc>gTc	p.A183V		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	183					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTTCGCTGGCCACTGGTTAT	0.463													35	302					0	0	0	0	T	151373293	C	T	151373293	3	4	206	1	0	0	0	0	1	0	0	0	12758	739	26	4	562	4	PSMB4	1	151373293	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	50701128	151373293	97877328	3	36732											
CD1E	913	broad.mit.edu	37	chr1	158325848	158325848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctggcctgtcctgtcGggtgaaacacagcagtctag	8	8	14	11	1	1	1	0	1	1	0	3	1	2	1	2	3	3	3	2	3	2	1			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr1:158325848G>A	ENST00000444681.2	+	3	853	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	CD1E_ENST00000368166.3_Missense_Mutation_p.R97Q|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.R97Q|CD1E_ENST00000368165.3_Missense_Mutation_p.R196Q|CD1E_ENST00000434258.1_Missense_Mutation_p.R284Q|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.R196Q|CD1E_ENST00000368167.3_Missense_Mutation_p.R286Q|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.R286Q	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	286					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CTGTCCTGTCGGGTGAAACAC	0.572													15	97					0	0	0	0	A	158325848	G	A	158325848	3	1	206	1	0	0	0	0	1	0	0	0	3007	1116	39	1	871	1	CD1E	1	158325848	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	6952555	158325848	90924773	4	36733											
CACNA1E	777	broad.mit.edu	37	chr1	181702070	181702070	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaacgcagtctggatGaagccatgcccactgaaggg	11	5	14	11	1	1	2	0	2	1	0	1	4	1	4	3	3	3	1	3	3	3	0			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr1:181702070G>T	ENST00000526775.1	+	19	2956	c.2791G>T	c.(2791-2793)Gaa>Taa	p.E931*	CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.E901*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.E557*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.E931*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.E950*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.E882*|CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.E950*	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	950					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGTCTGGATGAAGCCATGCC	0.612													12	99					1.61879e-10	1.78067e-10	1	0	T	181702070	G	T	181702070	4	4	206	1	0	0	0	0	0	1	0	0	2567	1291	45	2	2926	2	CACNA1E	1	181702070	Nonsense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	23376222	181702070	67548551	5	36734											
NID1	4811	broad.mit.edu	37	chr1	236175241	236175241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccgggcacgcaacggaagCcgtctccctgataaccaggt	9	6	11	15	4	1	1	0	1	1	0	3	2	2	2	4	3	3	2	4	3	3	1			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr1:236175241C>T	ENST00000264187.6	-	12	2589	c.2507G>A	c.(2506-2508)gGc>gAc	p.G836D	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	836	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCAACGGAAGCCGTCTCCCTG	0.577													8	89					0	0	0	0	T	236175241	C	T	236175241	3	4	206	1	0	0	0	0	1	0	0	0	10484	739	26	4	1272	4	NID1	1	236175241	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	54473171	236175241	13075380	6	36735											
RYR2	6262	broad.mit.edu	37	chr1	237961367	237961367	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatggagagttctacggcCgagacagaatcagtgaatta	15	9	11	6	2	2	4	1	1	1	3	2	6	2	4	1	2	1	1	1	2	6	4			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr1:237961367C>T	ENST00000366574.2	+	97	14304	c.13987C>T	c.(13987-13989)Cga>Tga	p.R4663*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.R4669*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R4647*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4663					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTCTACGGCCGAGACAGAAT	0.408													3	17					0	0	0	0	T	237961367	C	T	237961367	4	4	206	1	0	0	0	0	0	1	0	0	13854	644	23	1	14373	1	RYR2	1	237961367	Nonsense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	1786126	237961367	11289254	7	36736											
C1orf101	257044	broad.mit.edu	37	chr1	244735832	244735832	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaggactatcccttacatCtggaagcacaaagtatagct	14	10	7	10	0	1	0	0	0	1	0	2	2	2	2	1	2	4	3	1	2	7	5			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr1:244735832C>G	ENST00000366534.4	+	11	1762	c.1708C>G	c.(1708-1710)Ctg>Gtg	p.L570V	C1orf101_ENST00000366531.3_Missense_Mutation_p.L419V|C1orf101_ENST00000366533.4_Missense_Mutation_p.L570V|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	570						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCCCTTACATCTGGAAGCACA	0.363													8	70					0	0	0	0	G	244735832	C	G	244735832	3	3	206	1	0	0	0	0	1	0	0	0	1995	912	32	2	1750	2	C1orf101	1	244735832	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	6774465	244735832	4514789	8	36737											
PLEKHH2	130271	broad.mit.edu	37	chr2	43984289	43984289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agattttgaaagacctttctCaactccagcagggcatgtta	12	12	8	9	0	1	3	1	1	1	2	3	3	2	3	2	1	2	3	2	1	3	4			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr2:43984289C>T	ENST00000282406.4	+	26	3937	c.3827C>T	c.(3826-3828)tCa>tTa	p.S1276L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1276	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGACCTTTCTCAACTCCAGCA	0.333													6	84					0	0	0	0	T	43984289	C	T	43984289	3	4	206	1	0	0	0	0	1	0	0	0	12149	838	29	2	3925	2	PLEKHH2	2	43984289	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08		43984289	199215084	9	36738											
TMEM37	140738	broad.mit.edu	37	chr2	120194495	120194495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggccaaaggcagcccCgccggtccttctttgaatcc	6	10	10	15	2	1	1	0	1	1	0	3	1	3	1	6	3	1	1	6	3	2	3	rs141678483		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr2:120194495C>T	ENST00000306406.4	+	2	87	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	TMEM37_ENST00000409826.1_Missense_Mutation_p.R30C|TMEM37_ENST00000465296.1_3'UTR	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	18						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						AAGGCAGCCCCGCCGGTCCTT	0.612													12	73					0	0	0	0	T	120194495	C	T	120194495	3	4	206	1	0	0	0	0	1	0	0	0	16252	652	23	1	58	1	TMEM37	2	120194495	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	76210206	120194495	123004878	10	36739											
PKP4	8502	broad.mit.edu	37	chr2	159535144	159535144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctattcctcaccagcaaGagaacaaaatagacggctac	15	8	6	12	1	1	2	1	0	0	2	3	3	3	2	3	1	3	2	3	1	7	5			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr2:159535144G>C	ENST00000389757.3	+	20	3304	c.3179G>C	c.(3178-3180)aGa>aCa	p.R1060T	PKP4_ENST00000389759.3_Missense_Mutation_p.R1103T|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	1103					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TCACCAGCAAGAGAACAAAAT	0.383										HNSCC(62;0.18)			18	71					0	0	0	0	C	159535144	G	C	159535144	3	2	206	1	0	0	0	0	1	0	0	0	12059	942	33	2	3386	2	PKP4	2	159535144	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	39340649	159535144	83664229	11	36740											
CASP8	841	broad.mit.edu	37	chr2	202149644	202149644	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatctaccaactcatggAccacagtaacatggactgct	15	8	7	11	0	2	0	1	0	1	0	2	3	2	2	2	2	4	2	2	2	5	2			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr2:202149644A>G	ENST00000358485.4	+	8	1281	c.1085A>G	c.(1084-1086)gAc>gGc	p.D362G	CASP8_ENST00000323492.7_Missense_Mutation_p.D288G|CASP8_ENST00000264275.5_Missense_Mutation_p.D320G|CASP8_ENST00000432109.2_Missense_Mutation_p.D303G|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.D219G	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	303					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAACTCATGGACCACAGTAAC	0.473										HNSCC(4;0.00038)			30	136					0	0	0	0	G	202149644	A	G	202149644	3	3	206	1	0	0	0	0	1	0	0	0	2702	275	10	5	1215	5	CASP8	2	202149644	Missense_Mutation	SNP	A	TCGA-CR-7382-01A-11D-2129-08	42614500	202149644	41049729	12	36741											
AGAP1	116987	broad.mit.edu	37	chr2	237032621	237032621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagctctggcctacgcccGgcaggcctccagccaggagt	7	5	12	17	2	1	0	0	0	1	0	2	1	2	1	5	4	3	2	5	4	1	1	rs150891900		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr2:237032621G>A	ENST00000409538.1	+	17	3561	c.3065G>A	c.(3064-3066)cGg>cAg	p.R1022Q	AGAP1_ENST00000304032.7_Missense_Mutation_p.R810Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.R649Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.R757Q			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	810					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GCCTACGCCCGGCAGGCCTCC	0.637													6	71					0	0	0	0	A	237032621	G	A	237032621	3	1	206	1	0	0	0	0	1	0	0	0	366	1116	39	1	2499	1	AGAP1	2	237032621	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	34882977	237032621	6166752	13	36742											
TRIM71	131405	broad.mit.edu	37	chr3	32933083	32933083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaatgggcagttcctgcGcccacaaggggtagctgtgg	8	7	16	10	1	0	0	0	0	0	0	1	0	1	0	2	5	2	5	2	5	3	2			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr3:32933083G>A	ENST00000383763.4	+	4	2450	c.2387G>A	c.(2386-2388)cGc>cAc	p.R796H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	796					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGTTCCTGCGCCCACAAGGG	0.592													9	74					0	0	0	0	A	32933083	G	A	32933083	3	1	206	1	0	0	0	0	1	0	0	0	16639	1087	38	1	2401	1	TRIM71	3	32933083	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08		32933083	165089347	14	36743											
FAM107A	11170	broad.mit.edu	37	chr3	58555543	58555543	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtattctggccgggccatCaggcccccaatgtctgcccg	5	9	11	16	2	3	0	1	0	2	0	3	0	3	0	5	3	1	1	5	3	2	2			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr3:58555543C>G	ENST00000394481.1	-	3	603	c.45G>C	c.(43-45)ctG>ctC	p.L15L	FAM107A_ENST00000474531.1_Silent_p.L46L|FAM107A_ENST00000447756.2_Silent_p.L43L|FAM107A_ENST00000360997.2_Silent_p.L15L|FAM107A_ENST00000464064.1_Silent_p.L15L	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	15			L -> M (in ovarian cancer and renal cell carcinoma cell lines).		regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		GCCGGGCCATCAGGCCCCCAA	0.597													12	95					0	0	0	0	G	58555543	C	G	58555543	2	3	206	1	0	0	0	0	0	0	0	1	5430	813	29	2		2	FAM107A	3	58555543	Silent	SNP	C	TCGA-CR-7382-01A-11D-2129-08	25622460	58555543	139466887	15	36744											
FAM3D	131177	broad.mit.edu	37	chr3	58639409	58639409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccccactcacccagccagCgtggcagacggatggttttc	8	7	11	15	2	1	1	1	0	0	1	2	2	1	2	4	3	3	2	4	3	0	2			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr3:58639409C>T	ENST00000358781.2	-	3	423	c.113G>A	c.(112-114)cGc>cAc	p.R38H		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	38					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		ACCCAGCCAGCGTGGCAGACG	0.577													13	148					0	0	0	0	T	58639409	C	T	58639409	3	4	206	1	0	0	0	0	1	0	0	0	5606	768	27	1	593	1	FAM3D	3	58639409	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	83866	58639409	139383021	16	36745											
MFN1	55669	broad.mit.edu	37	chr3	179076745	179076745	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggaactgatggagataaAgcctatcttatgacagaagg	16	8	12	5	0	1	4	0	2	1	2	1	7	1	5	1	3	2	0	1	3	7	3			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr3:179076745A>C	ENST00000471841.1	+	4	492	c.366A>C	c.(364-366)aaA>aaC	p.K122N	MFN1_ENST00000280653.7_Missense_Mutation_p.K122N|MFN1_ENST00000263969.5_Missense_Mutation_p.K122N	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	122					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATGGAGATAAAGCCTATCTTA	0.373													10	79					0	0	0	0	C	179076745	A	C	179076745	3	2	206	1	0	0	0	0	1	0	0	0	9592	69	3	5	376	5	MFN1	3	179076745	Missense_Mutation	SNP	A	TCGA-CR-7382-01A-11D-2129-08	120437336	179076745	18945685	17	36746											
HGFAC	3083	broad.mit.edu	37	chr4	3445789	3445789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggatccctgtgcctccGgcccctgcctcaatggaggc	4	8	11	18	1	1	0	1	0	0	0	3	2	3	2	7	4	2	0	7	4	1	0			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr4:3445789G>A	ENST00000382774.3	+	5	614	c.499G>A	c.(499-501)Ggc>Agc	p.G167S	HGFAC_ENST00000511533.1_Missense_Mutation_p.G167S	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	167	EGF-like 1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGTGCCTCCGGCCCCTGCCT	0.662													9	59					0	0	0	0	A	3445789	G	A	3445789	3	1	206	1	0	0	0	0	1	0	0	0	7136	1116	39	1	517	1	HGFAC	4	3445789	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08		3445789	187708487	18	36747											
SORCS2	57537	broad.mit.edu	37	chr4	7726911	7726911	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccctctacctggaggtggTtcctgtcattggcctcaacc	5	11	11	14	0	3	0	2	0	1	0	4	1	4	1	5	5	2	1	5	5	2	3			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr4:7726911T>C	ENST00000507866.2	+	20	2751	c.2642T>C	c.(2641-2643)gTt>gCt	p.V881A	SORCS2_ENST00000329016.9_Missense_Mutation_p.V709A	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	881						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CTGGAGGTGGTTCCTGTCATT	0.577													18	61					0	0	0	0	C	7726911	T	C	7726911	3	2	206	1	0	0	0	0	1	0	0	0	15019	1725	60	5	2720	5	SORCS2	4	7726911	Missense_Mutation	SNP	T	TCGA-CR-7382-01A-11D-2129-08	4281122	7726911	183427365	19	36748											
SCLT1	132320	broad.mit.edu	37	chr4	129864211	129864211	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttaaactctcagtctctttCcgtaactgtttattttcttg	7	20	4	10	1	3	0	1	0	3	0	6	0	4	0	1	0	2	2	1	0	4	8			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr4:129864211C>T	ENST00000281142.5	-	17	2075	c.1572G>A	c.(1570-1572)cgG>cgA	p.R524R	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	524						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CAGTCTCTTTCCGTAACTGTT	0.363													8	92					0	0	0	0	T	129864211	C	T	129864211	2	4	206	1	0	0	0	0	0	0	0	1	13993	842	30	2		2	SCLT1	4	129864211	Silent	SNP	C	TCGA-CR-7382-01A-11D-2129-08	122137300	129864211	61290065	20	36749											
SCLT1	132320	broad.mit.edu	37	chr4	129873944	129873944	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgaagggctgaaagttCttctgttaatcgagaaattt	12	15	9	5	1	2	3	0	2	2	1	3	4	2	3	0	1	0	3	0	1	4	5			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr4:129873944C>A	ENST00000281142.5	-	14	1701	c.1198G>T	c.(1198-1200)Gaa>Taa	p.E400*	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	400						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GCTGAAAGTTCTTCTGTTAAT	0.279													8	90					0.000157383	0.000167047	1	0	A	129873944	C	A	129873944	4	1	206	1	0	0	0	0	0	1	0	0	13993	922	32	2	900	2	SCLT1	4	129873944	Nonsense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	9733	129873944	61280332	21	36750											
ZNF827	152485	broad.mit.edu	37	chr4	146767142	146767142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggtgttttcttttgtatGattgtgctctttgctcactt	4	22	9	6	0	3	1	1	1	2	0	3	2	3	1	0	1	2	4	0	1	1	8			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr4:146767142G>A	ENST00000508784.1	-	7	2472	c.2245C>T	c.(2245-2247)Cat>Tat	p.H749Y	ZNF827_ENST00000379448.4_Missense_Mutation_p.H749Y|ZNF827_ENST00000513320.1_Missense_Mutation_p.H399Y			Q17R98	ZN827_HUMAN	zinc finger protein 827	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCTTTTGTATGATTGTGCTCT	0.463													4	48					0	0	0	0	A	146767142	G	A	146767142	3	1	206	1	0	0	0	0	1	0	0	0	18273	1290	45	2	1016	2	ZNF827	4	146767142	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	16893198	146767142	44387134	22	36751											
FAT1	2195	broad.mit.edu	37	chr4	187541184	187541184	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaatctctgcactgtagaAaggtttttcaaacacaggca	13	11	8	9	0	2	1	1	0	1	1	3	1	2	1	0	2	3	5	0	2	4	3			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr4:187541184A>C	ENST00000441802.2	-	10	6765	c.6556T>G	c.(6556-6558)Ttc>Gtc	p.F2186V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2186	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCACTGTAGAAAGGTTTTTCA	0.507										HNSCC(5;0.00058)			6	75					0	0	0	0	C	187541184	A	C	187541184	3	2	206	1	0	0	0	0	1	0	0	0	5734	14	1	5	7282	5	FAT1	4	187541184	Missense_Mutation	SNP	A	TCGA-CR-7382-01A-11D-2129-08	40774042	187541184	3613092	23	36752											
ADAMTS12	81792	broad.mit.edu	37	chr5	33624346	33624346	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttattaccagatccttcCttctgcttaaacatctttct	8	19	3	11	0	3	1	0	0	3	1	5	1	5	1	3	0	3	2	3	0	4	7			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr5:33624346C>T	ENST00000504830.1	-	14	2468	c.2133G>A	c.(2131-2133)aaG>aaA	p.K711K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	711	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAGATCCTTCCTTCTGCTTAA	0.453										HNSCC(64;0.19)			6	104					0	0	0	0	T	33624346	C	T	33624346	2	4	206	1	0	0	0	0	0	0	0	1	257	680	24	4		4	ADAMTS12	5	33624346	Silent	SNP	C	TCGA-CR-7382-01A-11D-2129-08		33624346	147290914	24	36753											
DDX4	54514	broad.mit.edu	37	chr5	55082475	55082475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgagatttgatggcttgcGctcaaacagggtctgggaag	10	9	15	7	2	2	2	1	1	1	1	2	5	2	3	0	3	2	2	0	3	2	2			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr5:55082475G>A	ENST00000505374.1	+	14	1086	c.994G>A	c.(994-996)Gct>Act	p.A332T	DDX4_ENST00000511853.1_Missense_Mutation_p.A183T|DDX4_ENST00000354991.5_Missense_Mutation_p.A298T|DDX4_ENST00000514278.2_Missense_Mutation_p.A312T|DDX4_ENST00000353507.5_Missense_Mutation_p.A298T	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	332	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GATGGCTTGCGCTCAAACAGG	0.398													8	136					0	0	0	0	A	55082475	G	A	55082475	3	1	206	1	0	0	0	0	1	0	0	0	4392	1087	38	1	1085	1	DDX4	5	55082475	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	21458129	55082475	125832785	25	36754											
CMYA5	202333	broad.mit.edu	37	chr5	79030604	79030604	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtagagagaaacatagcaGaggggaaggagattcattct	16	8	13	4	0	2	4	1	0	1	4	2	7	2	5	0	3	2	2	0	3	4	4			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr5:79030604G>C	ENST00000446378.2	+	2	6047	c.6016G>C	c.(6016-6018)Gag>Cag	p.E2006Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2006						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAACATAGCAGAGGGGAAGGA	0.408													5	45					0	0	0	0	C	79030604	G	C	79030604	3	2	206	1	0	0	0	0	1	0	0	0	3620	943	33	2	6022	2	CMYA5	5	79030604	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	23948129	79030604	101884656	26	36755											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799485	140799485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccctctgactcccaggctGagatgcagttttacctggtg	7	11	10	13	0	1	2	0	2	1	1	2	3	2	2	3	2	2	3	3	2	1	2			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr5:140799485G>A	ENST00000398594.2	+	1	2059	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCAGGCTGAGATGCAGTT	0.552													8	72					0	0	0	0	A	140799485	G	A	140799485	3	1	206	1	0	0	0	0	1	0	0	0	11639	1291	45	2	2061	2	PCDHGB7	5	140799485	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	61768881	140799485	40115775	27	36756											
DOCK2	1794	broad.mit.edu	37	chr5	169477279	169477279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaagtgttcatctaccGcgggaaggaatatgagcgaa	15	7	12	7	3	2	1	1	1	1	0	2	5	2	3	1	2	3	1	1	2	7	3			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr5:169477279G>A	ENST00000256935.8	+	41	4171	c.4091G>A	c.(4090-4092)cGc>cAc	p.R1364H	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R856H|DOCK2_ENST00000540750.1_Missense_Mutation_p.R425H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1364	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCATCTACCGCGGGAAGGAA	0.502													19	175					0	0	0	0	A	169477279	G	A	169477279	3	1	206	1	0	0	0	0	1	0	0	0	4723	1087	38	1	4253	1	DOCK2	5	169477279	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	28677794	169477279	11437981	28	36757											
HK3	3101	broad.mit.edu	37	chr5	176314244	176314244	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtctcgggaatggagtaGatctcgctggtgatctgcac	9	10	13	9	2	3	2	0	1	3	1	5	4	3	4	0	3	1	3	0	3	2	1			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr5:176314244G>C	ENST00000292432.5	-	12	1786	c.1695C>G	c.(1693-1695)atC>atG	p.I565M		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	565	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAATGGAGTAGATCTCGCTGG	0.622													11	55					0	0	0	0	C	176314244	G	C	176314244	3	2	206	1	0	0	0	0	1	0	0	0	7242	932	33	2	1108	2	HK3	5	176314244	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	6836965	176314244	4601016	29	36758											
GPR116	221395	broad.mit.edu	37	chr6	46847692	46847692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catagcgccaagacacattgGaggacaaaacttccttttca	14	9	7	11	1	1	1	1	0	0	1	2	3	2	3	2	2	2	0	2	2	4	5			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr6:46847692G>A	ENST00000283296.7	-	9	1187	c.899C>T	c.(898-900)tCc>tTc	p.S300F	GPR116_ENST00000265417.7_Missense_Mutation_p.S300F|GPR116_ENST00000362015.4_Missense_Mutation_p.S300F|GPR116_ENST00000456426.2_Intron	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	300	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGACACATTGGAGGACAAAAC	0.438													9	80					0	0	0	0	A	46847692	G	A	46847692	3	1	206	1	0	0	0	0	1	0	0	0	6682	1174	41	2	3193	2	GPR116	6	46847692	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08		46847692	124267375	30	36759											
CCDC28A	25901	broad.mit.edu	37	chr6	139101031	139101031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactccgatccagcactcCttcctcactgatgtctcaga	9	11	5	16	1	3	2	3	1	1	1	8	3	7	2	4	0	2	1	4	0	1	1			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr6:139101031C>T	ENST00000332797.6	+	3	656	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	167										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TCCAGCACTCCTTCCTCACTG	0.453													10	82					0	0	0	0	T	139101031	C	T	139101031	2	4	206	1	0	0	0	0	0	0	0	1	2828	668	24	4		4	CCDC28A	6	139101031	Silent	SNP	C	TCGA-CR-7382-01A-11D-2129-08	92253339	139101031	32014036	31	36760											
SEMA3E	9723	broad.mit.edu	37	chr7	83014672	83014672	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttcgcttgtaaagatcGtggggtacattccagcaaag	12	11	10	8	2	0	1	0	0	0	1	3	1	1	1	1	2	3	4	1	2	5	5			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr7:83014672G>A	ENST00000307792.3	-	16	2280	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R545*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	605	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGTAAAGATCGTGGGGTACAT	0.398													20	132					0	0	0	0	A	83014672	G	A	83014672	4	1	206	1	0	0	0	0	0	1	0	0	14115	1153	40	1	522	1	SEMA3E	7	83014672	Nonsense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08		83014672	76123991	32	36761											
COL1A2	1278	broad.mit.edu	37	chr7	94051241	94051241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttccctggtgctgctggaCggactggtcccccaggaccc	4	9	13	15	1	0	0	0	0	0	0	2	3	2	3	4	5	2	3	4	5	0	1			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr7:94051241C>T	ENST00000297268.6	+	39	2851	c.2380C>T	c.(2380-2382)Cgg>Tgg	p.R794W		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	794			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGCTGCTGGACGGACTGGTCC	0.458										HNSCC(75;0.22)			6	57					0	0	0	0	T	94051241	C	T	94051241	3	4	206	1	0	0	0	0	1	0	0	0	3708	527	19	1	2534	1	COL1A2	7	94051241	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	11036569	94051241	65087422	33	36762											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99117510	99117510	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaggagctgacagcttCacttctctcaactgggtccc	8	9	9	15	0	3	1	2	1	1	0	5	2	4	2	2	2	4	2	2	2	1	2			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr7:99117510C>A	ENST00000394170.2	+	4	865	c.614C>A	c.(613-615)tCa>tAa	p.S205*	ZKSCAN5_ENST00000451158.1_Nonsense_Mutation_p.S205*|ZKSCAN5_ENST00000326775.5_Nonsense_Mutation_p.S205*	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	205					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTGACAGCTTCACTTCTCTCA	0.517													11	69					2.27111e-07	2.45361e-07	1	0	A	99117510	C	A	99117510	4	1	206	1	0	0	0	0	0	1	0	0	17785	838	29	2	624	2	ZKSCAN5	7	99117510	Nonsense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	5066269	99117510	60021153	34	36763											
IQUB	154865	broad.mit.edu	37	chr7	123142651	123142651	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaataaaagttatctcacCgcctttagtctttgagcatg	12	13	6	10	1	2	1	1	1	2	0	3	1	2	1	2	0	1	2	2	0	5	5			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr7:123142651C>T	ENST00000466202.1	-	6	1599	c.1023_splice	c.e6+1	p.A341_splice	IQUB_ENST00000324698.6_Splice_Site_p.A341_splice|IQUB_ENST00000488987.1_5'UTR|IQUB_ENST00000434450.1_Splice_Site_p.A341_splice			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	341	IQ.									breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GTTATCTCACCGCCTTTAGTC	0.358													6	71					0	0	0	0	T	123142651	C	T	123142651	5	4	206	1	0	0	0	0	0	0	1	0	7873	666	23	1	1384	1	IQUB	7	123142651	Splice_Site	SNP	C	TCGA-CR-7382-01A-11D-2129-08	24025141	123142651	35996012	35	36764											
PTPRN2	5799	broad.mit.edu	37	chr7	158380276	158380277	+	Frame_Shift_Ins	INS	-	-	G																															ccccgggagctgccggccgcINSgggggacggacgaaggggcg																										TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr7:158380276_158380277insG	ENST00000389413.3	-	1	188_189	c.85_86insC	c.(85-87)cggfs	p.R29fs	PTPRN2_ENST00000409483.1_Frame_Shift_Ins_p.R29fs|PTPRN2_ENST00000389416.4_Frame_Shift_Ins_p.R29fs|PTPRN2_ENST00000389418.4_Frame_Shift_Ins_p.R29fs	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	29						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTGCCGGCCGCGGGGGACGGAC	0.757													2	4	---	---	---	---					G	158380277	-	G	158380276	7	5	206	1	0	1	1	0	0	0	0	0	12890	768	27	0	3053	0	PTPRN2	7	158380276	Frame_Shift_Ins	INS	-	TCGA-CR-7382-01A-11D-2129-08	35237625	158380276	758387	36	36765											
XPO7	23039	broad.mit.edu	37	chr8	21843104	21843104	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcctgctgcaggaaggctGacatggctggtttacattat	8	13	11	9	0	1	1	0	1	1	0	2	2	1	2	1	4	3	5	1	4	3	3			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr8:21843104G>A	ENST00000434536.1	+	13	1608	c.1506G>A	c.(1504-1506)ctG>ctA	p.L502L	XPO7_ENST00000433566.4_Silent_p.L494L|XPO7_ENST00000252512.9_Silent_p.L493L			Q9UIA9	XPO7_HUMAN	exportin 7	493					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CAGGAAGGCTGACATGGCTGG	0.498													40	139					0	0	0	0	A	21843104	G	A	21843104	2	1	206	1	0	0	0	0	0	0	0	1	17545	1277	45	2		2	XPO7	8	21843104	Silent	SNP	G	TCGA-CR-7382-01A-11D-2129-08		21843104	124520918	37	36766											
UBR5	51366	broad.mit.edu	37	chr8	103305835	103305835	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctggtagcaatttacctGctagactgatcagatgatgg	11	12	10	8	0	1	4	1	2	0	2	1	4	1	4	2	2	4	3	2	2	5	5			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr8:103305835G>A	ENST00000520539.1	-	34	5193	c.4587C>T	c.(4585-4587)agC>agT	p.S1529S	UBR5_ENST00000521922.1_Silent_p.S1523S|UBR5_ENST00000519528.1_5'UTR|UBR5_ENST00000220959.4_Silent_p.S1529S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1529	Poly-Ser.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAATTTACCTGCTAGACTGAT	0.433													11	99					0	0	0	0	A	103305835	G	A	103305835	2	1	206	1	0	0	0	0	0	0	0	1	17001	1310	46	4		4	UBR5	8	103305835	Silent	SNP	G	TCGA-CR-7382-01A-11D-2129-08	81462731	103305835	43058187	38	36767											
TRAPPC9	83696	broad.mit.edu	37	chr8	140744267	140744267	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacgaaggagacggtgtcGtgcaggtcgtagttgtgcac	8	8	15	10	4	0	1	0	0	0	1	2	3	0	1	1	3	2	4	1	3	2	2			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr8:140744267G>A	ENST00000389328.4	-	22	3542	c.3528C>T	c.(3526-3528)caC>caT	p.H1176H	TRAPPC9_ENST00000389327.3_Silent_p.H1069H|TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000438773.2_Silent_p.H1078H	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1078					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGACGGTGTCGTGCAGGTCGT	0.657													5	11					0	0	0	0	A	140744267	G	A	140744267	2	1	206	1	0	0	0	0	0	0	0	1	16560	1136	40	1		1	TRAPPC9	8	140744267	Silent	SNP	G	TCGA-CR-7382-01A-11D-2129-08	37438432	140744267	5619755	39	36768											
EPPK1	83481	broad.mit.edu	37	chr8	144940690	144940690	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccacatggcctggtagatGctcatcttctcctggcggcc	5	12	10	14	1	3	1	1	0	2	1	5	1	4	1	4	4	1	2	4	4	1	3			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr8:144940690G>A	ENST00000525985.1	-	2	6803	c.6732C>T	c.(6730-6732)agC>agT	p.S2244S				P58107	EPIPL_HUMAN	epiplakin 1	2244						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGGTAGATGCTCATCTTCT	0.711													7	102					0	0	0	0	A	144940690	G	A	144940690	2	1	206	1	0	0	0	0	0	0	0	1	5228	1310	46	4		4	EPPK1	8	144940690	Silent	SNP	G	TCGA-CR-7382-01A-11D-2129-08	4196423	144940690	1423332	40	36769											
CD72	971	broad.mit.edu	37	chr9	35618375	35618375	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccctctcgtctctgtccGtttacaactaggctctgtgt	4	15	8	14	2	3	0	0	0	3	0	6	0	4	0	3	1	3	2	3	1	3	3			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:35618375G>A	ENST00000396757.1	-	0	90				CD72_ENST00000378430.3_De_novo_Start_OutOfFrame|CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_De_novo_Start_OutOfFrame			P21854	CD72_HUMAN	CD72 molecule						axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTCTCTGTCCGTTTACAACTA	0.547													5	21					0	0	0	0	A	35618375	G	A	35618375	1	1	206	1	0	0	0	0	0	0	0	0	3063	1160	40	1		1	CD72	9	35618375	Translation_Start_Site	SNP	G	TCGA-CR-7382-01A-11D-2129-08		35618375	105595056	41	36770											
IGFBPL1	347252	broad.mit.edu	37	chr9	38414183	38414183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttgtgaacacttcggggagGaacgacgaccacaggagcta	12	6	14	9	3	0	1	0	1	0	0	1	6	0	4	1	4	3	2	1	4	3	3			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:38414183G>A	ENST00000377694.1	-	2	500	c.478C>T	c.(478-480)Cct>Tct	p.P160S		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	160	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CTTCGGGGAGGAACGACGACC	0.592													6	83					0	0	0	0	A	38414183	G	A	38414183	3	1	206	1	0	0	0	0	1	0	0	0	7638	1174	41	2	370	2	IGFBPL1	9	38414183	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	2795808	38414183	102799248	42	36771											
PRUNE2	158471	broad.mit.edu	37	chr9	79465512	79465512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctaaaataaacctcgtctCggtgaagtagttgaattcag	13	13	8	7	2	3	2	1	2	2	0	5	2	3	2	1	1	1	2	1	1	7	6			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:79465512C>T	ENST00000376718.3	-	3	334	c.211G>A	c.(211-213)Gag>Aag	p.E71K	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Missense_Mutation_p.E71K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	71					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AACCTCGTCTCGGTGAAGTAG	0.393													16	151					0	0	0	0	T	79465512	C	T	79465512	3	4	206	1	0	0	0	0	1	0	0	0	12720	893	31	1	9123	1	PRUNE2	9	79465512	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	41051329	79465512	61747919	43	36772											
DAPK1	1612	broad.mit.edu	37	chr9	90321943	90321943	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcgcctgctggacccGcccgaccccctggggaagga	6	5	14	16	3	0	1	0	1	0	0	1	5	0	4	5	4	1	1	5	4	1	0			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:90321943G>A	ENST00000469640.2	+	27	4407	c.4032G>A	c.(4030-4032)ccG>ccA	p.P1344P	DAPK1_ENST00000408954.3_Silent_p.P1319P|DAPK1_ENST00000472284.1_Silent_p.P1319P|DAPK1_ENST00000358077.5_Silent_p.P1319P|DAPK1_ENST00000491893.1_Silent_p.P1253P			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1319	Death.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGCTGGACCCGCCCGACCCCC	0.602									Chronic Lymphocytic Leukemia, Familial Clustering of				9	106					0	0	0	0	A	90321943	G	A	90321943	2	1	206	1	0	0	0	0	0	0	0	1	4268	1074	38	1		1	DAPK1	9	90321943	Silent	SNP	G	TCGA-CR-7382-01A-11D-2129-08	10856431	90321943	50891488	44	36773											
CENPP	401541	broad.mit.edu	37	chr9	95094556	95094556	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagaactttcatttctaaGtacgcttactggcatcaata	13	14	5	9	1	4	1	3	0	1	1	4	1	4	1	0	1	3	3	0	1	6	6			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:95094556G>C	ENST00000375587.3	+	2	727	c.212G>C	c.(211-213)aGt>aCt	p.S71T		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	71					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						TCATTTCTAAGTACGCTTACT	0.348													4	31					0	0	0	0	C	95094556	G	C	95094556	3	2	206	1	0	0	0	0	1	0	0	0	3269	1029	36	4	218	4	CENPP	9	95094556	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	4772613	95094556	46118875	45	36774											
TMOD1	7111	broad.mit.edu	37	chr9	100331211	100331211	+	Silent	SNP	G	G	A																															ctcaaggagaacaaggtgttGaagacactgaatgtggaatc																										TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:100331211G>A	ENST00000395211.2	+	8	898	c.762G>A	c.(760-762)ttG>ttA	p.L254L	TMOD1_ENST00000375175.1_Silent_p.L127L|TMOD1_ENST00000259365.3_Silent_p.L254L	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1	254					muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		ACAAGGTGTTGAAGACACTGA	0.507													13	107					0	0	0	0	A	100331211	G	A	100331211	2	1	206	1	0	0	0	0	0	0	0	1	16327	1281	45	2		2	TMOD1	9	100331211	Silent	SNP	G	TCGA-CR-7382-01A-11D-2129-08	5236655	100331211	40882220	46	36775	284	2									
TMOD1	7111	broad.mit.edu	37	chr9	100331220	100331220	+	Silent	SNP	G	G	A																															aacaaggtgttgaagacactGaatgtggaatccaacttcat																										TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:100331220G>A	ENST00000395211.2	+	8	907	c.771G>A	c.(769-771)ctG>ctA	p.L257L	TMOD1_ENST00000375175.1_Silent_p.L130L|TMOD1_ENST00000259365.3_Silent_p.L257L	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1	257					muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TGAAGACACTGAATGTGGAAT	0.498													15	102					0	0	0	0	A	100331220	G	A	100331220	2	1	206	1	0	0	0	0	0	0	0	1	16327	1277	45	2		2	TMOD1	9	100331220	Silent	SNP	G	TCGA-CR-7382-01A-11D-2129-08	9	100331220	40882211	47	36776	284	2									
GALNT12	79695	broad.mit.edu	37	chr9	101585618	101585618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttataatgaagcctggtcaaCtctccttcggacagtttaca	11	13	7	10	1	2	1	1	1	1	0	4	2	2	2	2	2	3	1	2	2	5	5			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:101585618C>T	ENST00000375011.3	+	2	452	c.452C>T	c.(451-453)aCt>aTt	p.T151I		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	151	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GCCTGGTCAACTCTCCTTCGG	0.428													5	84					0	0	0	0	T	101585618	C	T	101585618	3	4	206	1	0	0	0	0	1	0	0	0	6259	565	20	4	458	4	GALNT12	9	101585618	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	1254398	101585618	39627813	48	36777											
FNBP1	23048	broad.mit.edu	37	chr9	132740854	132740854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgcgtaatcattcatttCgttcaggttggaaatgaaag	11	13	9	8	2	3	1	3	1	0	0	4	2	3	2	1	2	1	3	1	2	3	5			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:132740854C>T	ENST00000420781.1	-	4	453	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	FNBP1_ENST00000446176.2_Missense_Mutation_p.E79K|FNBP1_ENST00000355681.3_Missense_Mutation_p.E79K			Q96RU3	FNBP1_HUMAN	formin binding protein 1	79	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	p.E79K(1)					Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TCATTCATTTCGTTCAGGTTG	0.433			T	MLL	AML								7	50					0	0	0	0	T	132740854	C	T	132740854	3	4	206	1	0	0	0	0	1	0	0	0	6010	893	31	1	1674	1	FNBP1	9	132740854	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	31155236	132740854	8472577	49	36778											
SURF2	6835	broad.mit.edu	37	chr9	136226880	136226882	+	In_Frame_Del	DEL	GGA	GGA	-																															gcctgcctgcctggtgcaccGgaggaggaggagggaggacc																								rs149969130		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:136226880_136226882delGGA	ENST00000371964.4	+	4	433_435	c.392_394delGGA	c.(391-396)cgg>c	p.RR133del	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN	surfeit 2	133							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CTGGTGCACCGGAGGAGGAGGAG	0.635													7	35	---	---	---	---					-	136226882	GGA	-	136226880	7	5	206	1	0	1	0	1	0	0	0	0	15494	1116	39	0	406	0	SURF2	9	136226880	In_Frame_Del	DEL	GGA	TCGA-CR-7382-01A-11D-2129-08	3486026	136226880	4986551	50	36779											
CACNA1B	774	broad.mit.edu	37	chr9	141016410	141016410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctcgggtggccgagcaCggcacagctaccaccaccct	8	5	11	17	3	1	0	1	0	0	0	2	1	1	0	4	3	4	4	4	3	1	1			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr9:141016410C>T	ENST00000277549.5	+	47	7130	c.4561C>T	c.(4561-4563)Cgg>Tgg	p.R1521W	CACNA1B_ENST00000371363.1_Missense_Mutation_p.R2325W|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R2327W|CACNA1B_ENST00000277551.2_3'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R2328W|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R2326W			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2327					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGGCCGAGCACGGCACAGCTA	0.637													9	39					0	0	0	0	T	141016410	C	T	141016410	3	4	206	1	0	0	0	0	1	0	0	0	2564	527	19	1	7161	1	CACNA1B	9	141016410	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	4789530	141016410	197021	51	36780											
MYO3A	53904	broad.mit.edu	37	chr10	26463239	26463239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggaggaagaagataaagCagcggtattcattcagagca	16	6	12	7	1	2	3	2	0	0	3	2	5	2	5	1	3	3	3	1	3	5	4			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr10:26463239C>A	ENST00000265944.5	+	30	4212	c.4046C>A	c.(4045-4047)gCa>gAa	p.A1349E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1349	IQ 3.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAGATAAAGCAGCGGTATTC	0.488													11	89					0.00829132	0.00850211	1	0	A	26463239	C	A	26463239	3	1	206	1	0	0	0	0	1	0	0	0	10146	710	25	4	4156	4	MYO3A	10	26463239	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08		26463239	109071508	52	36781											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43650731	43650731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggaaatgcatctcttcCtggtgttgttggggaaaatt	9	15	12	5	0	1	1	0	1	1	0	3	3	2	3	1	4	1	3	1	4	3	4			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr10:43650731C>T	ENST00000374466.3	+	2	469	c.134C>T	c.(133-135)cCt>cTt	p.P45L	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.P45L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	45					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCATCTCTTCCTGGTGTTGTT	0.463													8	64					0	0	0	0	T	43650731	C	T	43650731	3	4	206	1	0	0	0	0	1	0	0	0	3971	681	24	4	136	4	CSGALNACT2	10	43650731	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	17187492	43650731	91884016	53	36782											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648571	62648571	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatttggaagaagaggtagcGaggtaaattcgatgtgcaaa	16	9	13	3	2	0	2	0	0	0	2	1	5	0	3	0	3	2	3	0	3	7	4			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr10:62648571G>A	ENST00000337910.5	-	6	1192	c.855C>T	c.(853-855)ctC>ctT	p.L285L	RHOBTB1_ENST00000357917.4_Silent_p.L285L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	285	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AAGAGGTAGCGAGGTAAATTC	0.438													13	92					0	0	0	0	A	62648571	G	A	62648571	2	1	206	1	0	0	0	0	0	0	0	1	13416	1045	37	1		1	RHOBTB1	10	62648571	Silent	SNP	G	TCGA-CR-7382-01A-11D-2129-08	18997840	62648571	72886176	54	36783											
SEC23IP	11196	broad.mit.edu	37	chr10	121685734	121685734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcttttgaagttggcgccGgacaggtgagtttacatatt	10	14	11	6	2	1	2	0	2	1	0	1	3	1	3	1	3	1	2	1	3	4	7			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr10:121685734G>A	ENST00000369075.3	+	13	2380	c.2308G>A	c.(2308-2310)Gga>Aga	p.G770R	SEC23IP_ENST00000543134.1_Missense_Mutation_p.G559R	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	770					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	p.G770R(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AGTTGGCGCCGGACAGGTGAG	0.393													19	137					0	0	0	0	A	121685734	G	A	121685734	3	1	206	1	0	0	0	0	1	0	0	0	14080	1117	39	1	2358	1	SEC23IP	10	121685734	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	59037163	121685734	13849013	55	36784											
HRAS	3265	broad.mit.edu	37	chr11	534289	534289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactcttgcccacaccgcCggcgcccaccaccaccagct	7	4	7	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	2	7	1	0	1	rs104894229		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr11:534289C>T	ENST00000417302.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			56	46					0	0	0	0	T	534289	C	T	534289	3	4	206	1	0	0	0	0	1	0	0	0	7398	652	23	1	618	1	HRAS	11	534289	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08		534289	134472227	56	36785											
DDB1	1642	broad.mit.edu	37	chr11	61089130	61089130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattccattccggatgatccGcaaagaaccttccttgaaag	13	10	7	11	2	0	3	0	2	0	1	4	4	4	4	5	1	1	1	5	1	4	4			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr11:61089130G>A	ENST00000301764.7	-	10	1559	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	388	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CGGATGATCCGCAAAGAACCT	0.473								Nucleotide excision repair (NER)					19	235					0	0	0	0	A	61089130	G	A	61089130	3	1	206	1	0	0	0	0	1	0	0	0	4355	1086	38	1	2332	1	DDB1	11	61089130	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	60554841	61089130	73917386	57	36786											
DDB1	1642	broad.mit.edu	37	chr11	61090509	61090509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagctgggagtcacccaggcGagacccgacaaacacaacac	15	2	10	14	2	1	1	1	0	0	1	1	4	1	2	2	2	3	1	2	2	3	0			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr11:61090509G>A	ENST00000301764.7	-	8	1376	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	327	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCACCCAGGCGAGACCCGACA	0.438								Nucleotide excision repair (NER)					3	31					0	0	0	0	A	61090509	G	A	61090509	3	1	206	1	0	0	0	0	1	0	0	0	4355	1058	37	1	2523	1	DDB1	11	61090509	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	1379	61090509	73916007	58	36787											
DDX10	1662	broad.mit.edu	37	chr11	108546344	108546344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgcaagaagctcagtaccGtttggtgactgagatacaga	12	11	11	7	1	1	4	1	2	0	3	1	5	1	4	1	1	4	4	1	1	4	4	rs145766863	byFrequency	TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr11:108546344G>A	ENST00000526794.1	+	3	301	c.269G>A	c.(268-270)cGt>cAt	p.R90H	DDX10_ENST00000322536.3_Missense_Mutation_p.R90H			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	90							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCTCAGTACCGTTTGGTGACT	0.458			T	NUP98	AML*								8	92					0	0	0	0	A	108546344	G	A	108546344	3	1	206	1	0	0	0	0	1	0	0	0	4374	1145	40	1	279	1	DDX10	11	108546344	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	47455835	108546344	26460172	59	36788											
OR6M1	390261	broad.mit.edu	37	chr11	123676267	123676267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaccttgtcataatccagtGaggagttctgattgggtctc	8	13	10	10	0	3	2	1	2	2	0	5	3	4	3	3	2	0	1	3	2	1	4			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr11:123676267G>A	ENST00000309154.2	-	1	828	c.791C>T	c.(790-792)tCa>tTa	p.S264L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ATAATCCAGTGAGGAGTTCTG	0.488													8	66					0	0	0	0	A	123676267	G	A	123676267	3	1	206	1	0	0	0	0	1	0	0	0	11276	1294	45	2	153	2	OR6M1	11	123676267	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	15129923	123676267	11330249	60	36789											
PRB3	5544	broad.mit.edu	37	chr12	11420826	11420826	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggggtggtccttctggCtttcccggacgaggtggggg	2	11	20	8	2	1	0	0	0	1	0	3	2	3	1	2	8	0	1	2	8	0	2			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr12:11420826C>A	ENST00000381842.3	-	0	394				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GTCCTTCTGGCTTTCCCGGAC	0.632													18	195					5.77227e-19	6.40775e-19	1	0	A	11420826	C	A	11420826	1	1	206	0	1	0	0	0	0	0	0	0	12524	796	28	4		4	PRB3	12	11420826	RNA	SNP	C	TCGA-CR-7382-01A-11D-2129-08		11420826	122431069	61	36790											
PUS7L	83448	broad.mit.edu	37	chr12	44148576	44148576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctattgagaattcaggaGgtagtccaattagctctgtt	10	14	10	7	0	2	1	1	1	1	1	3	3	3	2	2	2	2	3	2	2	5	6			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr12:44148576G>A	ENST00000416848.2	-	2	961	c.473C>T	c.(472-474)cCt>cTt	p.P158L	PUS7L_ENST00000551923.1_Missense_Mutation_p.P158L|PUS7L_ENST00000553166.1_Missense_Mutation_p.P158L|PUS7L_ENST00000344862.5_Missense_Mutation_p.P158L|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	158					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GAATTCAGGAGGTAGTCCAAT	0.368													10	120					0	0	0	0	A	44148576	G	A	44148576	3	1	206	1	0	0	0	0	1	0	0	0	12916	1000	35	4	1664	4	PUS7L	12	44148576	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	32727750	44148576	89703319	62	36791											
ARHGAP9	64333	broad.mit.edu	37	chr12	57867414	57867414	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctccaggaggtaccgtaGagtgtcatggttgggctttg	7	12	15	7	1	1	1	1	0	0	1	2	2	2	2	2	4	2	5	2	4	2	4			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr12:57867414G>C	ENST00000393797.2	-	20	2458	c.2266C>G	c.(2266-2268)Cta>Gta	p.L756V	ARHGAP9_ENST00000424809.2_Intron|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.L482V|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L666V|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.L685V			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	685					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGGTACCGTAGAGTGTCATGG	0.507													12	109					0	0	0	0	C	57867414	G	C	57867414	3	2	206	1	0	0	0	0	1	0	0	0	891	933	33	2	207	2	ARHGAP9	12	57867414	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	13718838	57867414	75984481	63	36792			1	56		2	2	27	G		7.810598e-05
ARHGAP9	64333	broad.mit.edu	37	chr12	57867440	57867440	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggttgggctttggcattGagcctattaattcttgtatc	7	17	10	7	0	1	1	0	1	1	0	2	1	1	1	1	3	1	4	1	3	3	8			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr12:57867440G>C	ENST00000393797.2	-	20	2432	c.2240C>G	c.(2239-2241)tCa>tGa	p.S747*	ARHGAP9_ENST00000424809.2_Intron|ARHGAP9_ENST00000430041.2_Nonsense_Mutation_p.S473*|ARHGAP9_ENST00000393791.3_Nonsense_Mutation_p.S657*|ARHGAP9_ENST00000550288.1_Silent_p.L730L|ARHGAP9_ENST00000356411.2_Nonsense_Mutation_p.S676*			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	676	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CTTTGGCATTGAGCCTATTAA	0.488													10	92					0	0	0	0	C	57867440	G	C	57867440	4	2	206	1	0	0	0	0	0	1	0	0	891	1294	45	2	233	2	ARHGAP9	12	57867440	Nonsense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	26	57867440	75984455	64	36793			1	56		2	2	27	G		7.810598e-05
GNS	2799	broad.mit.edu	37	chr12	65130831	65130831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtcctcgaaccaacagtgGaactttgatatcaaactcat	14	10	7	10	1	2	1	2	1	0	0	4	3	3	2	2	2	4	0	2	2	5	2			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr12:65130831G>A	ENST00000258145.3	-	9	1221	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	GNS_ENST00000543646.1_Missense_Mutation_p.P383S|GNS_ENST00000542058.1_Missense_Mutation_p.P331S|GNS_ENST00000418919.2_Missense_Mutation_p.P295S	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	351						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACCAACAGTGGAACTTTGATA	0.458													5	73					0	0	0	0	A	65130831	G	A	65130831	3	1	206	1	0	0	0	0	1	0	0	0	6601	1174	41	2	631	2	GNS	12	65130831	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	7263391	65130831	68721064	65	36794											
ATP11A	23250	broad.mit.edu	37	chr13	113508638	113508638	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaggccctgcagaaggcCgggatcaaagtctgggttct	9	8	14	10	2	3	1	1	0	2	1	4	3	3	2	2	4	1	2	2	4	2	1	rs144429120		TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr13:113508638C>T	ENST00000487903.1	+	19	2125	c.2037C>T	c.(2035-2037)gcC>gcT	p.A679A	ATP11A_ENST00000375630.2_Silent_p.A679A|ATP11A_ENST00000283558.8_Silent_p.A679A|ATP11A_ENST00000375645.3_Silent_p.A679A			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	679					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGCAGAAGGCCGGGATCAAAG	0.592													5	57					0	0	0	0	T	113508638	C	T	113508638	2	4	206	1	0	0	0	0	0	0	0	1	1123	639	23	1		1	ATP11A	13	113508638	Silent	SNP	C	TCGA-CR-7382-01A-11D-2129-08		113508638	1661240	66	36795											
FSIP1	161835	broad.mit.edu	37	chr15	40068654	40068654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagaagcatttgaacttctGctcccagggcgtattcttga	11	12	9	9	1	2	3	0	2	2	1	3	3	3	3	1	1	3	3	1	1	4	5			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr15:40068654G>T	ENST00000350221.3	-	2	281	c.72C>A	c.(70-72)agC>agA	p.S24R	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	24										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTGAACTTCTGCTCCCAGGGC	0.368													10	146					4.68919e-08	5.11164e-08	1	0	T	40068654	G	T	40068654	3	4	206	1	0	0	0	0	1	0	0	0	6122	1310	46	4	1717	4	FSIP1	15	40068654	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08		40068654	62462738	67	36796											
HERC1	8925	broad.mit.edu	37	chr15	63942010	63942010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagagatccatccatcCgtcccaccaacaacaattct	12	8	4	17	1	1	1	0	0	1	1	6	2	6	1	6	0	2	0	6	0	3	1			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr15:63942010C>T	ENST00000443617.2	-	54	10748	c.10661G>A	c.(10660-10662)cGg>cAg	p.R3554Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3554					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCCATCCATCCGTCCCACCAA	0.512													7	23					0	0	0	0	T	63942010	C	T	63942010	3	4	206	1	0	0	0	0	1	0	0	0	7107	652	23	1	4024	1	HERC1	15	63942010	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	23873356	63942010	38589382	68	36797											
CHD2	1106	broad.mit.edu	37	chr15	93518123	93518123	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagcgtctggatggttcCatcaagggagaaatccgaaa	13	9	11	8	2	2	1	1	0	1	1	4	4	4	2	2	3	2	1	2	3	4	2			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr15:93518123C>A	ENST00000394196.4	+	20	3588	c.2520C>A	c.(2518-2520)tcC>tcA	p.S840S	CHD2_ENST00000557381.1_Silent_p.S840S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	840	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGGATGGTTCCATCAAGGGAG	0.433													11	62					0.000308642	0.000324745	1	0	A	93518123	C	A	93518123	2	1	206	1	0	0	0	0	0	0	0	1	3354	581	21	4		4	CHD2	15	93518123	Silent	SNP	C	TCGA-CR-7382-01A-11D-2129-08	29576113	93518123	9013269	69	36798											
RHBDL1	9028	broad.mit.edu	37	chr16	727018	727018	+	Silent	SNP	G	G	A																															cgcctcaacaagtgggtgctGcagacctaccaccccgagta																										TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr16:727018G>A	ENST00000219551.2	+	3	696	c.669G>A	c.(667-669)ctG>ctA	p.L223L	RHBDL1_ENST00000352681.3_Silent_p.L158L			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	223					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				AGTGGGTGCTGCAGACCTACC	0.637													8	63					0	0	0	0	A	727018	G	A	727018	2	1	206	1	0	0	0	0	0	0	0	1	13404	1306	46	4		4	RHBDL1	16	727018	Silent	SNP	G	TCGA-CR-7382-01A-11D-2129-08		727018	89627735	70	36799	285	2									
RHBDL1	9028	broad.mit.edu	37	chr16	727019	727019	+	Missense_Mutation	SNP	C	C	A																															gcctcaacaagtgggtgctgCagacctaccaccccgagtac																										TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr16:727019C>A	ENST00000219551.2	+	3	697	c.670C>A	c.(670-672)Cag>Aag	p.Q224K	RHBDL1_ENST00000352681.3_Missense_Mutation_p.Q159K			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	224					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GTGGGTGCTGCAGACCTACCA	0.637													8	62					0.00307968	0.00318497	1	0	A	727019	C	A	727019	3	1	206	1	0	0	0	0	1	0	0	0	13404	711	25	4	680	4	RHBDL1	16	727019	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	1	727019	89627734	71	36800	285	2									
PLEKHG4	25894	broad.mit.edu	37	chr16	67318871	67318871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgaggcttcactgaagctaCcaccggtgggcagcacagct	9	8	12	12	1	1	2	1	2	0	0	1	2	1	2	2	3	4	5	2	3	2	3			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr16:67318871C>A	ENST00000360461.5	+	12	4483	c.1948C>A	c.(1948-1950)Cca>Aca	p.P650T	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P650T|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P650T|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.P569T	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	650					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		ACTGAAGCTACCACCGGTGGG	0.667													6	28					0.00198382	0.00206933	1	0	A	67318871	C	A	67318871	3	1	206	1	0	0	0	0	1	0	0	0	12143	507	18	4	1994	4	PLEKHG4	16	67318871	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	66591852	67318871	23035882	72	36801											
CTCF	10664	broad.mit.edu	37	chr16	67650717	67650717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaattggttcggcatcGtcgttacaaacacacccacg	11	9	10	11	4	0	1	0	0	0	1	3	2	0	1	1	3	2	3	1	3	3	3			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr16:67650717G>A	ENST00000264010.4	+	5	1466	c.1022G>A	c.(1021-1023)cGt>cAt	p.R341H	CTCF_ENST00000401394.1_Missense_Mutation_p.R13H	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	341					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GTTCGGCATCGTCGTTACAAA	0.488													26	276					0	0	0	0	A	67650717	G	A	67650717	3	1	206	1	0	0	0	0	1	0	0	0	4032	1145	40	1	1032	1	CTCF	16	67650717	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	331846	67650717	22704036	73	36802											
PRMT7	54496	broad.mit.edu	37	chr16	68382250	68382250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttttctttctaagatcttCaaggctaaccacttggaaga	11	14	8	8	0	4	2	1	0	3	2	4	3	4	3	1	3	1	2	1	3	4	7			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr16:68382250C>G	ENST00000339507.5	+	14	2159	c.1329C>G	c.(1327-1329)ttC>ttG	p.F443L	PRMT7_ENST00000441236.1_Missense_Mutation_p.F393L|PRMT7_ENST00000348497.4_Intron|PRMT7_ENST00000449359.3_Missense_Mutation_p.F393L			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	443					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CTAAGATCTTCAAGGCTAACC	0.373													8	84					0	0	0	0	G	68382250	C	G	68382250	3	3	206	1	0	0	0	0	1	0	0	0	12621	825	29	2	1375	2	PRMT7	16	68382250	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	731533	68382250	21972503	74	36803											
ZNF594	84622	broad.mit.edu	37	chr17	5085805	5085805	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttacctgatgtctgatgaGgtctgagctgccctggaaag	9	11	13	8	0	2	4	0	4	2	0	2	5	2	5	2	2	3	2	2	2	2	1			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr17:5085805G>C	ENST00000399604.4	-	1	1887	c.1747C>G	c.(1747-1749)Ctc>Gtc	p.L583V	ZNF594_ENST00000575779.1_Missense_Mutation_p.L583V			Q96JF6	ZN594_HUMAN	zinc finger protein 594	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTCTGATGAGGTCTGAGCTG	0.458													17	198					0	0	0	0	C	5085805	G	C	5085805	3	2	206	1	0	0	0	0	1	0	0	0	18119	1000	35	4	680	4	ZNF594	17	5085805	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08		5085805	76109405	75	36804											
MYH4	4622	broad.mit.edu	37	chr17	10354168	10354168	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtttgcctcgggatagctGagaaaccatagcatcttttt	9	15	9	8	1	1	1	0	1	1	1	2	3	1	2	2	1	4	3	2	1	3	6			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr17:10354168G>A	ENST00000255381.2	-	29	4020	c.3910C>T	c.(3910-3912)Cag>Tag	p.Q1304*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1304					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGGGATAGCTGAGAAACCATA	0.383													20	110					0	0	0	0	A	10354168	G	A	10354168	4	1	206	1	0	0	0	0	0	1	0	0	10107	1299	45	2	1957	2	MYH4	17	10354168	Nonsense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	5268363	10354168	70841042	76	36805											
STAT5B	6777	broad.mit.edu	37	chr17	40359614	40359614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaactggtgtgtagtatttgGagtatacttcatcttttggc	8	17	11	5	0	2	0	1	0	1	0	2	2	2	1	0	3	2	3	0	3	5	8			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr17:40359614G>A	ENST00000293328.3	-	16	2207	c.2039C>T	c.(2038-2040)tCc>tTc	p.S680F		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	680	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GTAGTATTTGGAGTATACTTC	0.463													18	145					0	0	0	0	A	40359614	G	A	40359614	3	1	206	1	0	0	0	0	1	0	0	0	15359	1174	41	2	340	2	STAT5B	17	40359614	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	30005446	40359614	40835596	77	36806											
EZH1	2145	broad.mit.edu	37	chr17	40854917	40854917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaatcaaagaagagctcttCgccagcttgaattgccctct	11	11	8	11	1	3	3	1	1	2	2	4	3	3	3	2	0	3	3	2	0	4	4			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr17:40854917C>T	ENST00000428826.2	-	20	2282	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	EZH1_ENST00000585893.1_Missense_Mutation_p.E681K|EZH1_ENST00000592743.1_Missense_Mutation_p.E721K|EZH1_ENST00000435174.1_Missense_Mutation_p.E582K|EZH1_ENST00000415827.2_Missense_Mutation_p.E712K|EZH1_ENST00000590078.1_Missense_Mutation_p.E651K			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	721	SET.			VVMVNGDHRIGIFAKRAIQAGEELFFDYRYSQADALKYVGI ERETDVL -> GESQ (in Ref. 2; BAA25019).	anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	p.E721K(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		AAGAGCTCTTCGCCAGCTTGA	0.512													20	196					0	0	0	0	T	40854917	C	T	40854917	3	4	206	1	0	0	0	0	1	0	0	0	5371	893	31	1	90	1	EZH1	17	40854917	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	495303	40854917	40340293	78	36807											
OTOP2	92736	broad.mit.edu	37	chr17	72926892	72926892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcttactactccatcGtggctgtggtggcgggcaca	6	11	11	13	2	1	0	0	0	1	0	4	0	2	0	2	4	2	2	2	4	2	2			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr17:72926892G>A	ENST00000331427.4	+	6	1254	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M	OTOP2_ENST00000580223.1_Missense_Mutation_p.V388M	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	388						integral to membrane		p.V388L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CTACTCCATCGTGGCTGTGGT	0.617													6	63					0	0	0	0	A	72926892	G	A	72926892	3	1	206	1	0	0	0	0	1	0	0	0	11377	1145	40	1	1180	1	OTOP2	17	72926892	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	32071975	72926892	8268318	79	36808											
ANKRD12	23253	broad.mit.edu	37	chr18	9255584	9255584	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaaagatctaaaagaagaGagagaaaacatacccacaga	24	4	7	6	0	1	5	0	0	1	5	1	7	1	5	1	0	2	0	1	0	8	3			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr18:9255584G>C	ENST00000383440.2	+	8	2507	c.2250G>C	c.(2248-2250)gaG>gaC	p.E750D	ANKRD12_ENST00000262126.3_Missense_Mutation_p.E773D|ANKRD12_ENST00000400020.3_Missense_Mutation_p.E750D	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	773						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TAAAAGAAGAGAGAGAAAACA	0.348													7	64					0	0	0	0	C	9255584	G	C	9255584	3	2	206	1	0	0	0	0	1	0	0	0	640	933	33	2	2349	2	ANKRD12	18	9255584	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08		9255584	68821664	80	36809											
SMAD4	4089	broad.mit.edu	37	chr18	48573554	48573554	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgaaagtttggtaaagaaGctgaaggagaaaaaagatga	20	8	12	1	0	0	6	0	3	0	3	0	7	0	6	0	2	1	3	0	2	8	3			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr18:48573554G>A	ENST00000342988.3	+	2	676	c.138G>A	c.(136-138)aaG>aaA	p.K46K	SMAD4_ENST00000398417.2_Silent_p.K46K|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Silent_p.K46K|SMAD4_ENST00000452201.2_Silent_p.K46K	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	46	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(5)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGTAAAGAAGCTGAAGGAGA	0.368													7	86					0	0	0	0	A	48573554	G	A	48573554	2	1	206	1	0	0	0	0	0	0	0	1	14848	962	34	4		4	SMAD4	18	48573554	Silent	SNP	G	TCGA-CR-7382-01A-11D-2129-08	39317970	48573554	29503694	81	36810											
DSEL	92126	broad.mit.edu	37	chr18	65178325	65178325	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattagtattagttggtgatAtttccccttcatagggaagg	10	15	10	6	0	1	1	1	1	0	0	2	2	2	2	2	3	0	2	2	3	6	8			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr18:65178325A>G	ENST00000310045.7	-	2	5024	c.3551T>C	c.(3550-3552)aTa>aCa	p.I1184T	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1174						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGTTGGTGATATTTCCCCTTC	0.363													10	66					0	0	0	0	G	65178325	A	G	65178325	3	3	206	1	0	0	0	0	1	0	0	0	4811	449	16	5	121	5	DSEL	18	65178325	Missense_Mutation	SNP	A	TCGA-CR-7382-01A-11D-2129-08	16604771	65178325	12898923	82	36811											
ZNF407	55628	broad.mit.edu	37	chr18	72344099	72344099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtctagctcagaatcCtgaaaaccagagtagaaagc	14	8	9	10	0	2	4	1	1	1	3	3	4	3	4	3	1	3	2	3	1	6	3			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr18:72344099C>A	ENST00000299687.5	+	1	1124	c.1124C>A	c.(1123-1125)cCt>cAt	p.P375H	ZNF407_ENST00000582337.1_Missense_Mutation_p.P375H|ZNF407_ENST00000577538.1_Missense_Mutation_p.P375H|ZNF407_ENST00000309902.6_Missense_Mutation_p.P375H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCTCAGAATCCTGAAAACCAG	0.413													6	82					0.000157383	0.000167047	1	0	A	72344099	C	A	72344099	3	1	206	1	0	0	0	0	1	0	0	0	17982	681	24	4	1126	4	ZNF407	18	72344099	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	7165774	72344099	5733149	83	36812											
ATCAY	85300	broad.mit.edu	37	chr19	3920766	3920766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgtctctcctccacaggtCtgctctggtctcagaagatc	6	12	8	15	1	4	2	1	0	4	2	10	2	7	2	3	2	1	1	3	2	1	0			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:3920766C>G	ENST00000450849.2	+	12	1543	c.1076C>G	c.(1075-1077)tCt>tGt	p.S359C	ATCAY_ENST00000600960.1_Missense_Mutation_p.S359C|ATCAY_ENST00000398448.3_Missense_Mutation_p.S365C|ATCAY_ENST00000301260.6_Missense_Mutation_p.S359C	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	359					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CTCCACAGGTCTGCTCTGGTC	0.418													4	34					0	0	0	0	G	3920766	C	G	3920766	3	3	206	1	0	0	0	0	1	0	0	0	1081	913	32	2	1118	2	ATCAY	19	3920766	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08		3920766	55208217	84	36813											
PLIN3	10226	broad.mit.edu	37	chr19	4847853	4847853	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagctctgttcctgccgctgCtgctgcacggacgcgacgtc	4	10	12	15	5	1	0	0	0	1	0	3	2	2	1	2	1	5	6	2	1	1	2			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:4847853C>T	ENST00000221957.4	-	6	860	c.684G>A	c.(682-684)caG>caA	p.Q228Q	PLIN3_ENST00000592528.1_Silent_p.Q216Q|PLIN3_ENST00000585479.1_Silent_p.Q228Q	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	228					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CCTGCCGCTGCTGCTGCACGG	0.617													3	23					0	0	0	0	T	4847853	C	T	4847853	2	4	206	1	0	0	0	0	0	0	0	1	12163	796	28	4		4	PLIN3	19	4847853	Silent	SNP	C	TCGA-CR-7382-01A-11D-2129-08	927087	4847853	54281130	85	36814											
HNRNPM	4670	broad.mit.edu	37	chr19	8551952	8551952	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctaaaggacaaattcaaCgagtgcggtaagtgttggga	14	9	13	5	2	1	0	1	0	0	0	1	3	1	2	0	3	3	3	0	3	5	4			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:8551952C>T	ENST00000348943.3	+	16	2137	c.1905C>T	c.(1903-1905)aaC>aaT	p.N635N	HNRNPM_ENST00000325495.4_Silent_p.N674N	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	674					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						ACAAATTCAACGAGTGCGGTA	0.517													18	142					0	0	0	0	T	8551952	C	T	8551952	2	4	206	1	0	0	0	0	0	0	0	1	7321	535	19	1		1	HNRNPM	19	8551952	Silent	SNP	C	TCGA-CR-7382-01A-11D-2129-08	3704099	8551952	50577031	86	36815											
CACNA1A	773	broad.mit.edu	37	chr19	13414687	13414687	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacctcgttccagtcttcGcccgtcaggatctgaaaggg	8	10	11	12	3	3	2	1	2	2	0	6	3	4	3	3	2	0	1	3	2	1	2			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:13414687G>A	ENST00000360228.5	-	16	1997	c.1998C>T	c.(1996-1998)ggC>ggT	p.G666G	CACNA1A_ENST00000573710.2_Silent_p.G667G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	667			T -> M (in FHM1 and EA2; dbSNP:rs121908212).		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCAGTCTTCGCCCGTCAGGA	0.592													18	159					0	0	0	0	A	13414687	G	A	13414687	2	1	206	1	0	0	0	0	0	0	0	1	2563	1074	38	1		1	CACNA1A	19	13414687	Silent	SNP	G	TCGA-CR-7382-01A-11D-2129-08	4862735	13414687	45714296	87	36816											
ZNF302	55900	broad.mit.edu	37	chr19	35173684	35173684	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatatttgctatttcaggtGacatttagtgatgtggctat	10	18	9	4	0	1	2	1	2	0	0	1	2	1	2	0	2	1	2	0	2	5	8	rs149807567	by1000genomes	TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:35173684G>A	ENST00000505365.2	+	3	348	c.12G>A	c.(10-12)gtG>gtA	p.V4V	ZNF302_ENST00000505242.1_Silent_p.V4V|ZNF302_ENST00000457781.2_Silent_p.V4V|ZNF302_ENST00000446502.2_Silent_p.V48V|ZNF302_ENST00000509528.1_Intron|ZNF302_ENST00000423823.2_Silent_p.V4V|ZNF302_ENST00000507959.1_Silent_p.V4V			Q9NR11	ZN302_HUMAN	zinc finger protein 302	4	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TATTTCAGGTGACATTTAGTG	0.433													7	64					0	0	0	0	A	35173684	G	A	35173684	2	1	206	1	0	0	0	0	0	0	0	1	17927	1277	45	2		2	ZNF302	19	35173684	Silent	SNP	G	TCGA-CR-7382-01A-11D-2129-08	21758997	35173684	23955299	88	36817											
TRAPPC6A	79090	broad.mit.edu	37	chr19	45681407	45681407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctcacccccgggccggggtCggggtcgtgagcccacagct	4	5	16	16	4	1	1	1	1	0	0	3	1	1	1	4	5	2	2	4	5	0	0			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:45681407C>G	ENST00000006275.4	-	1	88	c.70G>C	c.(70-72)Gac>Cac	p.D24H	TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.D24H|TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.D24H|TRAPPC6A_ENST00000585934.1_Missense_Mutation_p.D24H	NM_024108.1	NP_077013.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	24					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		GGGCCGGGGTCGGGGTCGTGA	0.682													5	43					0	0	0	0	G	45681407	C	G	45681407	3	3	206	1	0	0	0	0	1	0	0	0	16558	884	31	3	475	3	TRAPPC6A	19	45681407	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08	10507723	45681407	13447576	89	36818											
PPP2R1A	5518	broad.mit.edu	37	chr19	52715983	52715983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacacccccatggtgcggcGggccgcagcctccaagctgg	6	5	14	16	3	0	1	0	1	0	0	1	1	1	1	5	4	3	2	5	4	1	0			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:52715983G>A	ENST00000322088.6	+	5	606	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.R183Q(10)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATGGTGCGGCGGGCCGCAGCC	0.617			Mis		clear cell ovarian carcinoma								15	66					0	0	0	0	A	52715983	G	A	52715983	3	1	206	1	0	0	0	0	1	0	0	0	12458	1116	39	1	566	1	PPP2R1A	19	52715983	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	7034576	52715983	6413000	90	36819											
NLRP5	126206	broad.mit.edu	37	chr19	56539838	56539838	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaagggatcttcccaagaGatgagtccgctgaggcatgt	11	9	12	9	1	2	3	1	2	1	1	4	5	4	4	2	2	0	2	2	2	2	1			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr19:56539838G>C	ENST00000390649.3	+	7	2239	c.2239G>C	c.(2239-2241)Gat>Cat	p.D747H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	747						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTTCCCAAGAGATGAGTCCGC	0.517													20	209					0	0	0	0	C	56539838	G	C	56539838	3	2	206	1	0	0	0	0	1	0	0	0	10550	942	33	2	2265	2	NLRP5	19	56539838	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	3823855	56539838	2589145	91	36820											
SEC23B	10483	broad.mit.edu	37	chr20	18491571	18491571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttccagccggctggaggCtacaagaatggttgtacccc	8	8	12	13	1	0	1	0	0	0	1	1	2	1	2	5	4	3	4	5	4	4	4			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr20:18491571C>T	ENST00000336714.3	+	2	524	c.92C>T	c.(91-93)gCt>gTt	p.A31V	SEC23B_ENST00000377465.1_Missense_Mutation_p.A31V|SEC23B_ENST00000377475.3_Missense_Mutation_p.A31V|SEC23B_ENST00000262544.2_Missense_Mutation_p.A31V	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	31					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CGGCTGGAGGCTACAAGAATG	0.502													8	103					0	0	0	0	T	18491571	C	T	18491571	3	4	206	1	0	0	0	0	1	0	0	0	14079	797	28	4	94	4	SEC23B	20	18491571	Missense_Mutation	SNP	C	TCGA-CR-7382-01A-11D-2129-08		18491571	44533949	92	36821											
ATP9A	10079	broad.mit.edu	37	chr20	50255990	50255990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcagctgcatggaagactgGtctcggcccaccagggttaa	9	8	12	12	1	2	1	1	0	1	1	3	2	2	2	2	4	2	3	2	4	2	1			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr20:50255990G>C	ENST00000338821.5	-	15	1824	c.1560C>G	c.(1558-1560)gaC>gaG	p.D520E	ATP9A_ENST00000311637.5_Missense_Mutation_p.D384E|ATP9A_ENST00000402822.1_Missense_Mutation_p.D399E	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	520					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGGAAGACTGGTCTCGGCCCA	0.542											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	89					0	0	0	0	C	50255990	G	C	50255990	3	2	206	1	0	0	0	0	1	0	0	0	1202	1252	44	4	1639	4	ATP9A	20	50255990	Missense_Mutation	SNP	G	TCGA-CR-7382-01A-11D-2129-08	31764419	50255990	12769530	93	36822											
MOV10L1	54456	broad.mit.edu	37	chr22	50580618	50580618	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcagagatgagcgattggGgtatgtgctcatgaggggca	9	9	17	6	1	1	3	1	2	0	1	1	5	1	3	0	4	3	4	0	4	1	2			TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chr22:50580618G>A	ENST00000262794.5	+	16	2262	c.2179_splice	c.e16+1	p.V727_splice	MOV10L1_ENST00000395858.3_Splice_Site_p.V727_splice|MOV10L1_ENST00000540615.1_Splice_Site_p.V707_splice|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Splice_Site_p.V727_splice	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	727					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAGCGATTGGGGTATGTGCTC	0.547											OREG0026672	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	36					0	0	0	0	A	50580618	G	A	50580618	5	1	206	1	0	0	0	0	0	0	1	0	9789	1246	43	4	2282	4	MOV10L1	22	50580618	Splice_Site	SNP	G	TCGA-CR-7382-01A-11D-2129-08		50580618	723948	94	36823											
RBM10	8241	broad.mit.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-																															gactatcggaccgagcaaggGgaggaggaggaggaggagga																										TCGA-CR-7382-01A-11D-2129-08	TCGA-CR-7382-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdde6828-b9f4-4648-a86b-157c5d46abb2	51cea5c6-365a-4c91-90c1-05a2619bfdf4	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggg>gg	p.GE112del	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	112					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66													4	9	---	---	---	---					-	47030563	GGA	-	47030561	7	5	206	1	0	1	0	1	0	0	0	0	13193	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-CR-7382-01A-11D-2129-08		47030561	108239999	95	36824											
HSPG2	3339	broad.mit.edu	37	chr1	22163405	22163405	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacagtggaactcaacgctGgccccaatgctcttggtctc	8	9	10	14	1	3	0	1	0	2	0	4	1	3	1	2	3	3	3	2	3	3	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:22163405G>C	ENST00000374695.3	-	75	10324	c.10245C>G	c.(10243-10245)gcC>gcG	p.A3415A		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3415	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACTCAACGCTGGCCCCAATGC	0.667													3	8					0	0	0	0	C	22163405	G	C	22163405	2	2	207	1	0	0	0	0	0	0	0	1	7483	1335	47	4		4	HSPG2	1	22163405	Silent	SNP	G	TCGA-CR-7383-01A-11D-2129-08		22163405	227087216	1	36825											
LCK	3932	broad.mit.edu	37	chr1	32740034	32740034	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactggatggcaagggcaCggtaagaggcgagacagggg	11	3	18	9	2	0	2	0	0	0	2	0	4	0	3	1	7	0	3	1	7	2	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:32740034C>T	ENST00000333070.4	+	2	204	c.105_splice	c.e2+1	p.T35_splice	LCK_ENST00000336890.5_Splice_Site_p.T35_splice|LCK_ENST00000373564.3_Splice_Site_p.T35_splice	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	35	Interactions with CD4 and CD8 (By similarity).			T -> R (in Ref. 2; AAA59502).	activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GGCAAGGGCACGGTAAGAGGC	0.532			T	TRB@	T-ALL								28	70					0	0	0	0	T	32740034	C	T	32740034	5	4	207	1	0	0	0	0	0	0	1	0	8729	550	19	1	106	1	LCK	1	32740034	Splice_Site	SNP	C	TCGA-CR-7383-01A-11D-2129-08	10576629	32740034	216510587	2	36826											
TMEM54	113452	broad.mit.edu	37	chr1	33363922	33363922	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcccacactcaggcctccTgtgggggacagctatgtcag	7	8	12	14	1	2	0	2	0	0	0	4	1	3	1	3	3	1	1	3	3	1	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:33363922T>A	ENST00000373463.3	-	2	136		c.e2-2		TMEM54_ENST00000475208.1_Splice_Site|TMEM54_ENST00000329151.5_Splice_Site	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54							integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCAGGCCTCCTGTGGGGGACA	0.602													31	70					0	0	0	0	A	33363922	T	A	33363922	5	1	207	1	0	0	0	0	0	0	1	0	16274	1594	55	5	673	5	TMEM54	1	33363922	Splice_Site	SNP	T	TCGA-CR-7383-01A-11D-2129-08	623888	33363922	215886699	3	36827											
PTCH2	8643	broad.mit.edu	37	chr1	45293182	45293182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgcagatcaaagagggCgcgttgggagtgggcgtagt	8	8	19	6	3	1	2	1	0	0	2	1	3	1	3	0	4	1	3	0	4	2	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:45293182C>T	ENST00000447098.2	-	15	2274	c.2263G>A	c.(2263-2265)Gcc>Acc	p.A755T	PTCH2_ENST00000372192.3_Missense_Mutation_p.A755T	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	755					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCAAAGAGGGCGCGTTGGGAG	0.642									Basal Cell Nevus syndrome				28	76					0	0	0	0	T	45293182	C	T	45293182	3	4	207	1	0	0	0	0	1	0	0	0	12810	768	27	1	1400	1	PTCH2	1	45293182	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	11929260	45293182	203957439	4	36828											
TACSTD2	4070	broad.mit.edu	37	chr1	59042502	59042502	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccttgaagcggccctcgggGtcgcagtcggggtcgtagag	5	7	18	11	5	0	2	0	1	0	1	4	2	0	2	2	5	1	2	2	5	2	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:59042502G>A	ENST00000371225.2	-	1	664	c.327C>T	c.(325-327)gaC>gaT	p.D109D		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	109	Thyroglobulin type-1.				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					GGCCCTCGGGGTCGCAGTCGG	0.701													15	26					0	0	0	0	A	59042502	G	A	59042502	2	1	207	1	0	0	0	0	0	0	0	1	15599	1252	44	4		4	TACSTD2	1	59042502	Silent	SNP	G	TCGA-CR-7383-01A-11D-2129-08	13749320	59042502	190208119	5	36829											
PKN2	5586	broad.mit.edu	37	chr1	89298809	89298809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggctagcgagaaagatgCagaggatgtaaaaaagcacc	16	5	14	6	1	0	3	0	0	0	3	0	5	0	4	1	3	3	4	1	3	5	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:89298809C>T	ENST00000370521.3	+	21	3079	c.2720C>T	c.(2719-2721)gCa>gTa	p.A907V	PKN2_ENST00000544045.1_Missense_Mutation_p.A581V|PKN2_ENST00000370513.5_Missense_Mutation_p.A859V|PKN2_ENST00000370505.3_Missense_Mutation_p.A750V|PKN2_ENST00000495119.1_3'UTR	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	907	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GAGAAAGATGCAGAGGATGTA	0.318													8	42					0	0	0	0	T	89298809	C	T	89298809	3	4	207	1	0	0	0	0	1	0	0	0	12052	710	25	4	2802	4	PKN2	1	89298809	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	30256307	89298809	159951812	6	36830											
ABCA4	24	broad.mit.edu	37	chr1	94506793	94506793	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcctttggctctggatgTttttcatcttgcgcaccaag	5	17	8	11	1	3	0	1	0	2	0	4	1	4	1	2	2	1	3	2	2	1	5			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:94506793T>C	ENST00000370225.3	-	23	3580	c.3494A>G	c.(3493-3495)aAc>aGc	p.N1165S		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1165					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTCTGGATGTTTTTCATCTT	0.562													9	107					0	0	0	0	C	94506793	T	C	94506793	3	2	207	1	0	0	0	0	1	0	0	0	34	1725	60	5	3439	5	ABCA4	1	94506793	Missense_Mutation	SNP	T	TCGA-CR-7383-01A-11D-2129-08	5207984	94506793	154743828	7	36831											
PTPN22	26191	broad.mit.edu	37	chr1	114397603	114397603	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagatgagctcaagaataggGtctatagatgaaggtacatc	15	9	11	6	0	2	5	1	2	1	3	3	5	2	5	0	2	2	2	0	2	7	4			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:114397603G>A	ENST00000359785.5	-	8	744	c.609C>T	c.(607-609)gaC>gaT	p.D203D	PTPN22_ENST00000528414.1_Silent_p.D203D|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000420377.2_Silent_p.D203D|PTPN22_ENST00000538253.1_Intron|PTPN22_ENST00000460620.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	203	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGAATAGGGTCTATAGATG	0.413													44	136					0	0	0	0	A	114397603	G	A	114397603	2	1	207	1	0	0	0	0	0	0	0	1	12869	1252	44	4		4	PTPN22	1	114397603	Silent	SNP	G	TCGA-CR-7383-01A-11D-2129-08	19890810	114397603	134853018	8	36832											
NOTCH2	4853	broad.mit.edu	37	chr1	120458389	120458389	+	Frame_Shift_Del	DEL	G	G	-																															actgaggctggggagcccccGctggttgggcaatactgcct																										TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:120458389delG	ENST00000256646.2	-	34	7175	c.6956delC	c.(6955-6957)ggfs	p.A2319fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2319					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		GGGAGCCCCCGCTGGTTGGGC	0.622			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				16	165	---	---	---	---					-	120458389	G	-	120458389	7	5	207	1	0	1	0	1	0	0	0	0	10618	1087	38	0	463	0	NOTCH2	1	120458389	Frame_Shift_Del	DEL	G	TCGA-CR-7383-01A-11D-2129-08	6060786	120458389	128792232	9	36833											
DUSP27	92235	broad.mit.edu	37	chr1	167096196	167096196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaacaaggaggaggtggtgGagctcagcaagggggaggac	13	3	20	5	0	1	1	1	0	0	1	1	6	1	6	0	8	3	2	0	8	3	0			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:167096196G>A	ENST00000361200.2	+	6	1994	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E610K|DUSP27_ENST00000443333.1_Missense_Mutation_p.E610K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	610					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGGTGGTGGAGCTCAGCAA	0.602													5	49					0	0	0	0	A	167096196	G	A	167096196	3	1	207	1	0	0	0	0	1	0	0	0	4860	1175	41	2	1846	2	DUSP27	1	167096196	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	46637807	167096196	82154425	10	36834											
PAPPA2	60676	broad.mit.edu	37	chr1	176738746	176738746	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatttctctgtttctagaagGaaattctgctcacatgttct	10	17	6	8	0	5	1	1	0	4	1	6	2	5	2	0	1	1	3	0	1	4	5			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:176738746G>T	ENST00000367662.3	+	16	5491	c.4327G>T	c.(4327-4329)Gaa>Taa	p.E1443*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1443	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E1443K(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTTCTAGAAGGAAATTCTGCT	0.453													26	77					7.92952e-12	8.98042e-12	1	0	T	176738746	G	T	176738746	4	4	207	1	0	0	0	0	0	1	0	0	11504	1175	41	2	4438	2	PAPPA2	1	176738746	Nonsense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	9642550	176738746	72511875	11	36835											
IPO9	55705	broad.mit.edu	37	chr1	201817629	201817629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccattgcccactgggactggCctgaagcttggccccaactc	7	8	10	16	0	0	1	0	1	0	0	1	2	0	2	5	3	3	1	5	3	2	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:201817629C>A	ENST00000361565.4	+	4	490	c.421C>A	c.(421-423)Cct>Act	p.P141T	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	141					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTGGGACTGGCCTGAAGCTTG	0.542													16	85					2.32078e-09	2.5817e-09	1	0	A	201817629	C	A	201817629	3	1	207	1	0	0	0	0	1	0	0	0	7852	739	26	4	435	4	IPO9	1	201817629	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	25078883	201817629	47432992	12	36836											
GNPAT	8443	broad.mit.edu	37	chr1	231396328	231396330	+	In_Frame_Del	DEL	AAA	AAA	-																															tcttagatgaaatgagtcacAaactgcgtcttggagccatt																										TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:231396328_231396330delAAA	ENST00000366647.4	+	3	506_508	c.337_339delAAA	c.(337-339)del	p.K113del	GNPAT_ENST00000366646.3_In_Frame_Del_p.K52del	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	113					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				AATGAGTCACAAACTGCGTCTTG	0.414													71	583	---	---	---	---					-	231396330	AAA	-	231396328	7	5	207	1	0	1	0	1	0	0	0	0	6592	131	5	0	347	0	GNPAT	1	231396328	In_Frame_Del	DEL	AAA	TCGA-CR-7383-01A-11D-2129-08	29578699	231396328	17854293	13	36837											
DISC1	27185	broad.mit.edu	37	chr1	231829916	231829916	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcttagctggccgtgtggcCctgggagtgctgggtggcag	3	9	20	9	1	0	0	0	0	0	0	0	1	0	1	2	6	2	4	2	6	1	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:231829916C>A	ENST00000366637.3	+	0	465				DISC1_ENST00000602281.1_Missense_Mutation_p.P138T|DISC1_ENST00000535983.1_Missense_Mutation_p.P138T|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366636.4_Missense_Mutation_p.P138T|DISC1_ENST00000439617.2_Missense_Mutation_p.P138T|DISC1_ENST00000366633.3_Missense_Mutation_p.P138T|DISC1_ENST00000539444.1_Missense_Mutation_p.P138T|DISC1_ENST00000317586.4_Missense_Mutation_p.P138T|DISC1_ENST00000537876.1_Missense_Mutation_p.P138T	NM_001012957.1	NP_001012975.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1						microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCCGTGTGGCCCTGGGAGTGC	0.612													35	59					2.80507e-11	3.15781e-11	1	0	A	231829916	C	A	231829916	1	1	207	1	0	0	0	0	0	0	0	0	4575	623	22	4		4	DISC1	1	231829916	Translation_Start_Site	SNP	C	TCGA-CR-7383-01A-11D-2129-08	433588	231829916	17420705	14	36838											
ZNF670	93474	broad.mit.edu	37	chr1	247201495	247201495	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttcccacattgtttgcaAtgatataacttctctggaca	10	15	6	10	0	1	1	0	1	1	0	3	2	2	2	1	1	2	3	1	1	3	6			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:247201495A>G	ENST00000366503.2	-	4	584	c.426T>C	c.(424-426)caT>caC	p.H142H		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATTGTTTGCAATGATATAACT	0.413													74	199					0	0	0	0	G	247201495	A	G	247201495	2	3	207	1	0	0	0	0	0	0	0	1	18172	98	4	5		5	ZNF670	1	247201495	Silent	SNP	A	TCGA-CR-7383-01A-11D-2129-08	15371579	247201495	2049126	15	36839											
OR2T12	127064	broad.mit.edu	37	chr1	248458349	248458349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgcaccaacacgggggcctCgcagaagaagtgatcgatct	12	5	12	12	4	1	3	0	1	1	2	3	4	1	3	2	2	1	2	2	2	3	0			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:248458349C>T	ENST00000317996.1	-	1	531	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E178*(1)|p.E178K(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACGGGGGCCTCGCAGAAGAAG	0.567													40	145					0	0	0	0	T	248458349	C	T	248458349	3	4	207	1	0	0	0	0	1	0	0	0	11090	893	31	1	433	1	OR2T12	1	248458349	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	1256854	248458349	792272	16	36840											
OR2T4	127074	broad.mit.edu	37	chr1	248524920	248524920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggccagccacactggatGgtcggatttcatcctgatgg	8	10	13	10	1	1	1	1	1	0	0	3	4	2	3	3	5	1	0	3	5	0	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:248524920G>T	ENST00000366475.1	+	1	38	c.38G>T	c.(37-39)tGg>tTg	p.W13L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACACTGGATGGTCGGATTTC	0.483													27	99					1.17739e-12	1.34151e-12	1	0	T	248524920	G	T	248524920	3	4	207	1	0	0	0	0	1	0	0	0	11098	1357	47	4	40	4	OR2T4	1	248524920	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	66571	248524920	725701	17	36841											
OR2G6	391211	broad.mit.edu	37	chr1	248685642	248685642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttaaggataaaatcagctgCgggccgccaaaaggcctttg	12	8	12	9	2	1	0	1	0	0	0	1	1	1	1	3	3	2	2	3	3	5	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:248685642C>T	ENST00000343414.4	+	1	727	c.695C>T	c.(694-696)gCg>gTg	p.A232V		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAATCAGCTGCGGGCCGCCAA	0.468													51	155					0	0	0	0	T	248685642	C	T	248685642	3	4	207	1	0	0	0	0	1	0	0	0	11071	768	27	1	697	1	OR2G6	1	248685642	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	160722	248685642	564979	18	36842											
NBAS	51594	broad.mit.edu	37	chr2	15415841	15415841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atccttttcagggattttggGaacaagtttggaaatagaca	13	13	10	5	0	1	1	1	0	0	1	2	4	2	4	1	3	1	1	1	3	4	6			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:15415841G>A	ENST00000281513.5	-	44	5516	c.5491C>T	c.(5491-5493)Ccc>Tcc	p.P1831S	NBAS_ENST00000441750.1_Missense_Mutation_p.P1711S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1831										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGGATTTTGGGAACAAGTTTG	0.403													15	88					0	0	0	0	A	15415841	G	A	15415841	3	1	207	1	0	0	0	0	1	0	0	0	10256	1174	41	2	1660	2	NBAS	2	15415841	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08		15415841	227783532	19	36843											
RAD51AP2	729475	broad.mit.edu	37	chr2	17697544	17697544	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcacaacttgttgaggAcaactcatattctgacaagt	14	12	6	9	0	3	2	2	2	1	0	3	3	3	3	0	1	2	1	0	1	4	5			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:17697544A>G	ENST00000399080.2	-	1	2162	c.2139T>C	c.(2137-2139)tgT>tgC	p.C713C		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	713										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTGTTGAGGACAACTCATAT	0.323													18	91					0	0	0	0	G	17697544	A	G	17697544	2	3	207	1	0	0	0	0	0	0	0	1	13069	273	10	5		5	RAD51AP2	2	17697544	Silent	SNP	A	TCGA-CR-7383-01A-11D-2129-08	2281703	17697544	225501829	20	36844											
FABP1	2168	broad.mit.edu	37	chr2	88425775	88425775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggatcactttggacccagCggtgatggtgaacttgaagt	9	12	13	7	1	1	3	1	3	0	0	1	5	1	5	1	4	2	0	1	4	2	3	rs1801273		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:88425775C>A	ENST00000393750.3	-	2	191	c.160G>T	c.(160-162)Gct>Tct	p.A54S	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Missense_Mutation_p.A54S			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	54			A -> T (in dbSNP:rs1801273).		organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TTGGACCCAGCGGTGATGGTG	0.537													5	548					1	1	1	0	A	88425775	C	A	88425775	3	1	207	1	0	0	0	0	1	0	0	0	5396	768	27	3	235	3	FABP1	2	88425775	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	70728231	88425775	154773598	21	36845											
LYG2	254773	broad.mit.edu	37	chr2	99863255	99863255	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaggcttcattgagtgActgaaggggtatgagcccct	9	10	15	7	0	1	5	1	5	0	0	1	5	1	5	2	4	1	2	2	4	2	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:99863255A>C	ENST00000409679.1	-	3	216	c.72T>G	c.(70-72)agT>agG	p.S24R	LYG2_ENST00000333017.2_Missense_Mutation_p.S24R|LYG2_ENST00000409238.1_Missense_Mutation_p.S24R			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	24					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						TCATTGAGTGACTGAAGGGGT	0.502													39	127					0	0	0	0	C	99863255	A	C	99863255	3	2	207	1	0	0	0	0	1	0	0	0	9170	272	10	5	582	5	LYG2	2	99863255	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08	11437480	99863255	143336118	22	36846											
EIF5B	9669	broad.mit.edu	37	chr2	100011184	100011184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgttttaaccttttaggtAtgcagtaattttggccttcg	7	19	9	6	1	0	0	0	0	0	0	1	0	0	0	2	2	2	4	2	2	4	9			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:100011184A>G	ENST00000289371.5	+	21	3294	c.3092A>G	c.(3091-3093)tAt>tGt	p.Y1031C		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1031					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTTTTAGGTATGCAGTAATT	0.338													48	166					0	0	0	0	G	100011184	A	G	100011184	3	3	207	1	0	0	0	0	1	0	0	0	5082	449	16	5	3174	5	EIF5B	2	100011184	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08	147929	100011184	143188189	23	36847											
XIRP2	129446	broad.mit.edu	37	chr2	168101674	168101674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaagaaagccaagaaggtGatgaatgtgttaagacggtg	17	8	13	3	1	0	5	0	2	0	3	0	5	0	5	1	2	1	1	1	2	7	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:168101674G>A	ENST00000409195.1	+	9	3861	c.3772G>A	c.(3772-3774)Gat>Aat	p.D1258N	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1258N|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1036N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1083					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						CCAAGAAGGTGATGAATGTGT	0.338													15	194					0	0	0	0	A	168101674	G	A	168101674	3	1	207	1	0	0	0	0	1	0	0	0	17526	1290	45	2	3802	2	XIRP2	2	168101674	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	68090490	168101674	75097699	24	36848											
HOXD10	3236	broad.mit.edu	37	chr2	176982019	176982019	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccgtccctggatattttaGactgagtcagacctacgcca	9	11	8	13	2	1	3	1	1	0	2	3	4	3	4	4	1	1	0	4	1	3	4			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:176982019G>C	ENST00000249501.4	+	1	713	c.458G>C	c.(457-459)aGa>aCa	p.R153T	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	153						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGATATTTTAGACTGAGTCAG	0.572													5	353					0	0	0	0	C	176982019	G	C	176982019	3	2	207	1	0	0	0	0	1	0	0	0	7369	942	33	2	460	2	HOXD10	2	176982019	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	8880345	176982019	66217354	25	36849											
NFE2L2	4780	broad.mit.edu	37	chr2	178098945	178098945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	actgaagtcaaatacttctcGacttactccaagatctatat	14	13	4	10	1	3	2	1	1	2	1	5	3	4	2	1	0	2	0	1	0	7	5			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:178098945G>C	ENST00000397062.3	-	2	654	c.100C>G	c.(100-102)Cga>Gga	p.R34G	NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R34G(4)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCA	0.368			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			37	72					0	0	0	0	C	178098945	G	C	178098945	3	2	207	1	0	0	0	0	1	0	0	0	10438	1066	37	3	1733	3	NFE2L2	2	178098945	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	1116926	178098945	65100428	26	36850											
TTN	7273	broad.mit.edu	37	chr2	179395925	179395925	+	Frame_Shift_Del	DEL	G	G	-																															gcagactcgccctcgtagacGgtcatggaccgtggctttgt																										TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:179395925delG	ENST00000589042.1	-	358	105641	c.105417delC	c.(105415-105417)acfs	p.T35139fs	TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.T26266fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.T26199fs|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.T33498fs|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.T32571fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.T26074fs|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33498							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)			CCTCGTAGACGGTCATGGACC	0.483													88	370	---	---	---	---					-	179395925	G	-	179395925	7	5	207	1	0	1	0	1	0	0	0	0	16831	1103	39	0	2582	0	TTN	2	179395925	Frame_Shift_Del	DEL	G	TCGA-CR-7383-01A-11D-2129-08	1296980	179395925	63803448	27	36851											
FARP2	9855	broad.mit.edu	37	chr2	242350491	242350491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagagacctgctggaagagCgtttgacctgtgctgacacc	10	8	13	10	1	0	5	0	2	0	3	0	7	0	6	3	1	3	3	3	1	1	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:242350491C>T	ENST00000264042.3	+	6	624	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C	FARP2_ENST00000373287.4_Missense_Mutation_p.R152C|FARP2_ENST00000545004.1_Missense_Mutation_p.R152C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	152	FERM.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCTGGAAGAGCGTTTGACCTG	0.493													9	37					0	0	0	0	T	242350491	C	T	242350491	3	4	207	1	0	0	0	0	1	0	0	0	5722	768	27	1	472	1	FARP2	2	242350491	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	62954566	242350491	848882	28	36852											
KAT2B	8850	broad.mit.edu	37	chr3	20082194	20082194	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcggtggctcggcccgaatCgccgtgaagaaagcgcaact	9	5	15	12	6	0	2	0	1	0	1	2	3	0	2	2	4	2	2	2	4	4	0			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:20082194C>T	ENST00000263754.4	+	1	680	c.225C>T	c.(223-225)atC>atT	p.I75I	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	75					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CGGCCCGAATCGCCGTGAAGA	0.721													10	19					0	0	0	0	T	20082194	C	T	20082194	2	4	207	1	0	0	0	0	0	0	0	1	8035	874	31	1		1	KAT2B	3	20082194	Silent	SNP	C	TCGA-CR-7383-01A-11D-2129-08		20082194	177940236	29	36853											
HHATL	57467	broad.mit.edu	37	chr3	42739102	42739102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggccatgatggccaccaCgcttaggcctgcctgggctc	6	7	13	15	2	0	1	0	1	0	0	1	2	0	1	5	4	1	2	5	4	1	1	rs140686107		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:42739102C>T	ENST00000441594.1	-	7	1024	c.763G>A	c.(763-765)Gtg>Atg	p.V255M	HHATL_ENST00000310417.5_Missense_Mutation_p.V255M	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	255					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		ATGGCCACCACGCTTAGGCCT	0.612													25	172					0	0	0	0	T	42739102	C	T	42739102	3	4	207	1	0	0	0	0	1	0	0	0	7140	536	19	1	775	1	HHATL	3	42739102	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	22656908	42739102	155283328	30	36854											
ZIC4	84107	broad.mit.edu	37	chr3	147114119	147114119	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccggccgcgcgtacatgtCtccagggagccccagacgca	7	5	12	17	5	1	1	0	0	1	1	3	2	2	2	5	2	2	2	5	2	1	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:147114119C>G	ENST00000383075.3	-	3	720	c.208G>C	c.(208-210)Gac>Cac	p.D70H	ZIC4_ENST00000473123.1_Missense_Mutation_p.D70H|ZIC4_ENST00000525172.2_Missense_Mutation_p.D120H|ZIC4_ENST00000484399.1_Missense_Mutation_p.D70H|ZIC4_ENST00000425731.3_Missense_Mutation_p.D108H|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	70						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCGTACATGTCTCCAGGGAGC	0.726													15	30					0	0	0	0	G	147114119	C	G	147114119	3	3	207	1	0	0	0	0	1	0	0	0	17776	913	32	2	808	2	ZIC4	3	147114119	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	104375017	147114119	50908311	31	36855											
KLHL24	54800	broad.mit.edu	37	chr3	183381264	183381264	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtccactggctattctgaGgtgatagttgtcgttggagg	7	13	15	6	1	1	2	0	2	1	0	3	3	2	3	1	5	0	3	1	5	2	5			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:183381264G>A	ENST00000454652.1	+	5	1325	c.939G>A	c.(937-939)gaG>gaA	p.E313E	KLHL24_ENST00000242810.6_Silent_p.E313E|KLHL24_ENST00000476808.1_Silent_p.E313E			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	313						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GCTATTCTGAGGTGATAGTTG	0.338													45	149					0	0	0	0	A	183381264	G	A	183381264	2	1	207	1	0	0	0	0	0	0	0	1	8431	991	35	4		4	KLHL24	3	183381264	Silent	SNP	G	TCGA-CR-7383-01A-11D-2129-08	36267145	183381264	14641166	32	36856											
OPA1	4976	broad.mit.edu	37	chr3	193343972	193343972	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccaatatagcacgagctAtgcccaacagaagcgcaagg	14	5	11	11	2	0	1	0	0	0	1	0	2	0	1	2	2	5	3	2	2	7	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:193343972A>G	ENST00000361510.2	+	7	1004	c.770A>G	c.(769-771)tAt>tGt	p.Y257C	OPA1_ENST00000487986.1_Intron|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000361150.2_Missense_Mutation_p.Y203C|OPA1_ENST00000361828.2_Intron|OPA1_ENST00000392438.3_Intron|OPA1_ENST00000361908.3_Missense_Mutation_p.Y239C|OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000361715.2_Missense_Mutation_p.Y221C	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	206					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AGCACGAGCTATGCCCAACAG	0.493													30	90					0	0	0	0	G	193343972	A	G	193343972	3	3	207	1	0	0	0	0	1	0	0	0	10942	449	16	5	796	5	OPA1	3	193343972	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08	9962708	193343972	4678458	33	36857											
TNK2	10188	broad.mit.edu	37	chr3	195595233	195595233	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcgtcataggcgggcggggGgggcagcgggcgtgcgtccc	3	5	22	11	6	1	0	1	0	0	0	3	0	2	0	1	7	2	1	1	7	1	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:195595233G>C	ENST00000333602.6	-	12	2508	c.1891C>G	c.(1891-1893)Ccc>Gcc	p.P631A	TNK2_ENST00000428187.1_Missense_Mutation_p.P663A|TNK2_ENST00000392400.1_Missense_Mutation_p.P631A|TNK2_ENST00000381916.2_Missense_Mutation_p.P709A	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	631	Pro-rich.|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GCGGGCGGGGGGGGCAGCGGG	0.726													17	109					0	0	0	0	C	195595233	G	C	195595233	3	2	207	1	0	0	0	0	1	0	0	0	16412	1232	43	4	1241	4	TNK2	3	195595233	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	2251261	195595233	2427197	34	36858											
SH3TC1	54436	broad.mit.edu	37	chr4	8224685	8224685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaccgatgtctgcagcGtgtacagcctgggtgcgtgt	5	9	16	11	4	1	0	0	0	1	0	1	1	1	0	2	2	5	3	2	2	1	1	rs148540586		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr4:8224685G>T	ENST00000539824.1	+	10	1377	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L	SH3TC1_ENST00000245105.3_Missense_Mutation_p.V411L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	411	SH3.						binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGTCTGCAGCGTGTACAGCCT	0.602													9	55					2.80697e-09	3.10418e-09	1	0	T	8224685	G	T	8224685	3	4	207	1	0	0	0	0	1	0	0	0	14349	1145	40	3	1265	3	SH3TC1	4	8224685	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08		8224685	182929591	35	36859											
NPFFR2	10886	broad.mit.edu	37	chr4	73012967	73012967	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctggctcccctctcccTcattgtcatcatgtatggaa	7	13	6	15	0	4	0	3	0	1	0	6	1	5	1	4	2	1	2	4	2	3	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr4:73012967T>A	ENST00000308744.6	+	4	1105	c.1007T>A	c.(1006-1008)cTc>cAc	p.L336H	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.L237H|NPFFR2_ENST00000358749.3_Missense_Mutation_p.L234H|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	336					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)			CCCCTCTCCCTCATTGTCATC	0.527													12	79					0	0	0	0	A	73012967	T	A	73012967	3	1	207	1	0	0	0	0	1	0	0	0	10648	1551	54	5	1027	5	NPFFR2	4	73012967	Missense_Mutation	SNP	T	TCGA-CR-7383-01A-11D-2129-08	64788282	73012967	118141309	36	36860											
HPSE	10855	broad.mit.edu	37	chr4	84216583	84216583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgaacttcctggccggaGaggtttttccattaaaggtg	9	12	12	8	1	0	2	0	1	0	1	2	3	2	2	3	4	1	1	3	4	3	4			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr4:84216583G>C	ENST00000405413.2	-	13	1682	c.1546C>G	c.(1546-1548)Ctc>Gtc	p.L516V	HPSE_ENST00000311412.5_Missense_Mutation_p.L516V|HPSE_ENST00000513463.1_Missense_Mutation_p.L458V|HPSE_ENST00000512196.1_Missense_Mutation_p.L442V	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	516					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	CCTGGCCGGAGAGGTTTTTCC	0.403													15	100					0	0	0	0	C	84216583	G	C	84216583	3	2	207	1	0	0	0	0	1	0	0	0	7394	942	33	2	89	2	HPSE	4	84216583	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	11203616	84216583	106937693	37	36861											
FSTL5	56884	broad.mit.edu	37	chr4	162463813	162463813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccaggctctctagcctGactctctggatacacccgga	8	9	8	16	1	2	1	0	1	2	0	4	3	2	3	4	3	3	1	4	3	3	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr4:162463813G>T	ENST00000306100.5	-	9	1484	c.1048C>A	c.(1048-1050)Cag>Aag	p.Q350K	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.Q349K|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q349K|FSTL5_ENST00000536695.1_Missense_Mutation_p.Q349K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	350	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTCTAGCCTGACTCTCTGGA	0.418													14	103					2.32078e-09	2.5817e-09	1	0	T	162463813	G	T	162463813	3	4	207	1	0	0	0	0	1	0	0	0	6128	1299	45	2	1527	2	FSTL5	4	162463813	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	78247230	162463813	28690463	38	36862											
MYO10	4651	broad.mit.edu	37	chr5	16674967	16674967	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccccatgctttaccttttCagatggaacttgagatactt	9	14	7	11	0	1	2	1	1	0	2	1	4	1	3	3	1	4	1	3	1	3	7			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:16674967C>T	ENST00000513610.1	-	35	5413	c.4959G>A	c.(4957-4959)ctG>ctA	p.L1653L	MYO10_ENST00000274203.9_Silent_p.L1010L|MYO10_ENST00000505695.1_Silent_p.L992L|MYO10_ENST00000427430.2_Silent_p.L1010L|MYO10_ENST00000515803.1_Silent_p.L992L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1653	MyTH4.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTTACCTTTTCAGATGGAACT	0.547													27	277					0	0	0	0	T	16674967	C	T	16674967	2	4	207	1	0	0	0	0	0	0	0	1	10132	813	29	2		2	MYO10	5	16674967	Silent	SNP	C	TCGA-CR-7383-01A-11D-2129-08		16674967	164240293	39	36863											
RIOK2	55781	broad.mit.edu	37	chr5	96518925	96518925	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccgaacccagatgcctcTccgacgacagccgcaaagcg	11	4	10	16	5	1	1	0	0	1	1	3	4	2	1	5	0	4	1	5	0	2	0			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:96518925T>A	ENST00000509481.1	+	4	787	c.246T>A	c.(244-246)tcT>tcA	p.S82S	RIOK2_ENST00000283109.3_5'UTR|RIOK2_ENST00000508447.1_5'UTR																urinary_tract(1)	1						CAGATGCCTCTCCGACGACAG	0.582													60	169					0	0	0	0	A	96518925	T	A	96518925	2	1	207	1	0	0	0	0	0	0	0	1	13463	1566	54	5		5	RIOK2	5	96518925	Silent	SNP	T	TCGA-CR-7383-01A-11D-2129-08	79843958	96518925	84396335	40	36864											
MARCH3	115123	broad.mit.edu	37	chr5	126250611	126250611	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagttttcaggacgtgcccCacttactgacctccactaac	10	11	6	14	1	1	1	1	1	0	0	2	2	2	2	4	1	3	1	4	1	3	5			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:126250611C>T	ENST00000515241.1	-	2	460	c.404G>A	c.(403-405)tGg>tAg	p.W135*	MARCH3_ENST00000308660.5_Intron			Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	76					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		GGACGTGCCCCACTTACTGAC	0.493													16	72					0	0	0	0	T	126250611	C	T	126250611	4	4	207	1	0	0	0	0	0	1	0	0	9371	609	21	4		4	MARCH3	5	126250611	Nonsense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	29731686	126250611	54664649	41	36865											
PCDHA12	56137	broad.mit.edu	37	chr5	140255327	140255327	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgtgaattctcggatCgaccgcgagaagctgtgcgg	7	12	14	8	5	1	2	0	1	1	1	3	5	1	3	1	2	2	2	1	2	2	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:140255327C>A	ENST00000398631.2	+	1	270	c.270C>A	c.(268-270)atC>atA	p.I90I	PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGA	0.597													65	408					1.1794e-34	1.39452e-34	1	0	A	140255327	C	A	140255327	2	1	207	1	0	0	0	0	0	0	0	1	11593	874	31	3		3	PCDHA12	5	140255327	Silent	SNP	C	TCGA-CR-7383-01A-11D-2129-08	14004716	140255327	40659933	42	36866											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741197	140741197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcgagcgacctgaagccgCgggagattttatcctacgtg	9	9	13	10	5	0	2	0	1	0	1	1	5	1	2	3	1	4	0	3	1	4	4			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:140741197C>T	ENST00000522605.1	+	1	1495	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGAAGCCGCGGGAGATTTT	0.617													20	123					0	0	0	0	T	140741197	C	T	140741197	3	4	207	1	0	0	0	0	1	0	0	0	11634	759	27	1	1497	1	PCDHGB2	5	140741197	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	485870	140741197	40174063	43	36867											
FAT2	2196	broad.mit.edu	37	chr5	150922100	150922100	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggcaggtctcacagtcaAgttcctggagtgtggtgatc	7	12	13	9	0	3	1	2	1	2	0	6	2	4	2	1	4	0	2	1	4	1	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:150922100A>G	ENST00000261800.5	-	9	8600	c.8588T>C	c.(8587-8589)cTt>cCt	p.L2863P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2863	Cadherin 25.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCACAGTCAAGTTCCTGGAG	0.532													28	159					0	0	0	0	G	150922100	A	G	150922100	3	3	207	1	0	0	0	0	1	0	0	0	5735	72	3	5	4521	5	FAT2	5	150922100	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08	10180903	150922100	29993160	44	36868											
CNOT8	9337	broad.mit.edu	37	chr5	154250226	154250226	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgttttttagagaggAcatgtactcccaggattcca	10	13	8	10	0	0	1	0	0	0	1	2	4	2	3	3	2	1	2	3	2	2	6			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:154250226A>G	ENST00000517876.1	+	5	793	c.317A>G	c.(316-318)gAc>gGc	p.D106G	CNOT8_ENST00000403027.2_Missense_Mutation_p.D106G|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000521583.1_5'UTR|CNOT8_ENST00000523698.1_5'UTR|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000285896.6_Missense_Mutation_p.D106G|CNOT8_ENST00000521450.1_5'UTR|CNOT8_ENST00000520671.1_5'UTR			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	106					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTAGAGAGGACATGTACTCC	0.393													37	110					0	0	0	0	G	154250226	A	G	154250226	3	3	207	1	0	0	0	0	1	0	0	0	3655	275	10	5	327	5	CNOT8	5	154250226	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08	3328126	154250226	26665034	45	36869											
ACOT13	55856	broad.mit.edu	37	chr6	24667534	24667534	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggaggtgataaaggccAtgaccaaggctcgcaatttt	11	9	13	8	2	0	2	0	2	0	0	1	3	0	3	2	4	1	2	2	4	4	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:24667534A>G	ENST00000230048.4	+	1	236	c.43A>G	c.(43-45)Atg>Gtg	p.M15V	ACOT13_ENST00000537591.1_5'UTR	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13	15					protein homotetramerization	mitochondrion	acyl-CoA thioesterase activity			large_intestine(1)	1						GATAAAGGCCATGACCAAGGC	0.512											OREG0017230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	41					0	0	0	0	G	24667534	A	G	24667534	3	3	207	1	0	0	0	0	1	0	0	0	151	217	8	5	45	5	ACOT13	6	24667534	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08		24667534	146447533	46	36870											
C4B	721	broad.mit.edu	37	chr6	31996297	31996297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcggcttggttgtcacgggGcagcagcacctggtgagctt	5	10	16	10	2	1	1	1	1	0	0	1	1	1	1	1	5	4	6	1	5	0	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:31996297G>A	ENST00000435363.2	+	25	3302	c.3218G>A	c.(3217-3219)gGc>gAc	p.G1073D	C4B_ENST00000425700.2_Missense_Mutation_p.G1073D	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1073			D -> G (in allotype C4B1 and allotype C4B3; dbSNP:rs2258218).		complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TTGTCACGGGGCAGCAGCACC	0.617													4	64					0	0	0	0	A	31996297	G	A	31996297	3	1	207	1	0	0	0	0	1	0	0	0	2269	1203	42	4	8378	4	C4B	6	31996297	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	7328763	31996297	139118770	47	36871											
RUNX2	860	broad.mit.edu	37	chr6	45459775	45459775	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagtatgagagtaggtgtCccgcctcagaacccacggcc	9	6	11	15	2	1	2	1	1	0	2	2	3	2	2	5	2	1	2	5	2	3	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:45459775C>A	ENST00000371438.1	+	5	1141	c.783C>A	c.(781-783)gtC>gtA	p.V261V	RUNX2_ENST00000352853.5_Silent_p.V329V|RUNX2_ENST00000576263.1_Silent_p.V261V|RUNX2_ENST00000371432.3_Silent_p.V247V|RUNX2_ENST00000465038.2_Silent_p.V261V|RUNX2_ENST00000541979.1_Silent_p.V329V|RUNX2_ENST00000359524.5_Silent_p.V247V|RUNX2_ENST00000371436.6_Silent_p.V261V	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	261	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAGTAGGTGTCCCGCCTCAGA	0.502													20	176					5.35267e-07	5.78334e-07	1	0	A	45459775	C	A	45459775	2	1	207	1	0	0	0	0	0	0	0	1	13833	842	30	2		2	RUNX2	6	45459775	Silent	SNP	C	TCGA-CR-7383-01A-11D-2129-08	13463478	45459775	125655292	48	36872											
KHDRBS2	202559	broad.mit.edu	37	chr6	62390900	62390900	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ataggggtgttccctgtatcCccctctggctgacctttgcg	4	13	11	13	1	1	1	0	1	1	0	3	1	3	1	4	3	1	3	4	3	2	4	rs139583671		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:62390900C>G	ENST00000281156.4	-	9	1296	c.1018G>C	c.(1018-1020)Gga>Cga	p.G340R	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCCCTGTATCCCCCTCTGGCT	0.493													10	73					0	0	0	0	G	62390900	C	G	62390900	3	3	207	1	0	0	0	0	1	0	0	0	8198	632	22	4	35	4	KHDRBS2	6	62390900	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	16931125	62390900	108724167	49	36873											
IMPG1	3617	broad.mit.edu	37	chr6	76715077	76715086	+	Frame_Shift_Del	DEL	GTCTGTAGCT	GTCTGTAGCT	-																															ttgctgatcagccttttgagGtctgtagctgtgagatagat																										TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:76715077_76715086delGTCTGTAGCT	ENST00000369950.3	-	10	1242_1251	c.1053_1062delAGCTACAGAC	c.(1051-1062)acfs	p.TATD351fs	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	351					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.D354A(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCCTTTTGAGGTCTGTAGCTGTGAGATAGA	0.429													7	155	---	---	---	---					-	76715086	GTCTGTAGCT	-	76715077	7	5	207	1	0	1	0	1	0	0	0	0	7781	1252	44	0	1363	0	IMPG1	6	76715077	Frame_Shift_Del	DEL	GTCTGTAGCT	TCGA-CR-7383-01A-11D-2129-08	14324177	76715077	94399990	50	36874											
GPRC6A	222545	broad.mit.edu	37	chr6	117128089	117128089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgattttcttcagtgtcCgattgattctgacttcaatg	10	17	7	7	1	4	3	2	3	2	0	5	4	5	3	1	0	0	0	1	0	2	6			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:117128089C>T	ENST00000310357.3	-	3	800	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R260Q|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R260Q	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	260					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTTCAGTGTCCGATTGATTCT	0.363													14	125					0	0	0	0	T	117128089	C	T	117128089	3	4	207	1	0	0	0	0	1	0	0	0	6778	652	23	1	2017	1	GPRC6A	6	117128089	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	40413012	117128089	53986978	51	36875											
SMPDL3A	10924	broad.mit.edu	37	chr6	123130244	123130244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttaactgcaggatatgttGcagtattacttgaatctgac	11	15	8	7	0	2	2	0	2	2	0	2	3	2	3	0	1	4	4	0	1	5	6			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:123130244G>T	ENST00000368440.4	+	8	1230	c.1053G>T	c.(1051-1053)ttG>ttT	p.L351F	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.L220F	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	351					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AGGATATGTTGCAGTATTACT	0.413													17	127					5.3912e-06	5.75879e-06	1	0	T	123130244	G	T	123130244	3	4	207	1	0	0	0	0	1	0	0	0	14896	1310	46	4	1083	4	SMPDL3A	6	123130244	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	6002155	123130244	47984823	52	36876											
ECT2L	345930	broad.mit.edu	37	chr6	139206872	139206872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataccttaatcttctctacGctgtcaggcttcatacccct	9	14	4	14	1	4	0	2	0	2	0	5	0	4	0	3	1	3	2	3	1	5	6	rs79865247	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:139206872G>A	ENST00000423192.1	+	17	2325	c.2164G>A	c.(2164-2166)Gct>Act	p.A722T	ECT2L_ENST00000367682.2_Missense_Mutation_p.A722T|ECT2L_ENST00000541398.1_Intron			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	722	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCTTCTCTACGCTGTCAGGCT	0.468			"N, Splice, Mis"		ETP ALL								25	62					0	0	0	0	A	139206872	G	A	139206872	3	1	207	1	0	0	0	0	1	0	0	0	4938	1087	38	1	2226	1	ECT2L	6	139206872	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	16076628	139206872	31908195	53	36877											
MYCT1	80177	broad.mit.edu	37	chr6	153043080	153043080	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccacagtggctgtgaacgtCgaagcaacctcagcctggcc	9	6	12	14	2	1	1	1	1	0	0	2	2	1	1	4	2	4	2	4	2	3	0			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:153043080C>T	ENST00000367245.5	+	2	408	c.400C>T	c.(400-402)Cga>Tga	p.R134*	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	134						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CTGTGAACGTCGAAGCAACCT	0.498													53	142					0	0	0	0	T	153043080	C	T	153043080	4	4	207	1	0	0	0	0	0	1	0	0	10092	876	31	1	406	1	MYCT1	6	153043080	Nonsense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	13836208	153043080	18071987	54	36878											
DDC	1644	broad.mit.edu	37	chr7	50611624	50611624	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtcgttgatgatgtcctCaaacgtgtctggctcctgag	8	12	11	10	3	2	3	1	3	1	0	5	3	4	3	2	1	2	2	2	1	2	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:50611624C>A	ENST00000444124.2	-	2	360	c.160G>T	c.(160-162)Gag>Tag	p.E54*	DDC_ENST00000426377.1_Nonsense_Mutation_p.E54*|DDC_ENST00000380984.4_Nonsense_Mutation_p.E54*|DDC_ENST00000357936.5_Nonsense_Mutation_p.E54*|DDC_ENST00000431062.1_Nonsense_Mutation_p.E54*	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	54					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ATGATGTCCTCAAACGTGTCT	0.562													84	176					1.19472e-48	1.43061e-48	1	0	A	50611624	C	A	50611624	4	1	207	1	0	0	0	0	0	1	0	0	4357	835	29	2	1334	2	DDC	7	50611624	Nonsense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08		50611624	108527039	55	36879											
STEAP2	261729	broad.mit.edu	37	chr7	89861767	89861767	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaccaaactttgttctTgctcttgttttgccctcaat	8	16	4	13	0	3	0	1	0	2	0	3	0	3	0	3	0	3	3	3	0	2	6			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:89861767T>G	ENST00000287908.3	+	5	1695	c.1302T>G	c.(1300-1302)ctT>ctG	p.L434L	STEAP2_ENST00000394626.1_Silent_p.L434L|STEAP2_ENST00000394622.2_Silent_p.L434L|STEAP2_ENST00000394629.2_Silent_p.L434L|STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000394621.2_Silent_p.L434L|STEAP2_ENST00000402625.2_Intron	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	434					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ACTTTGTTCTTGCTCTTGTTT	0.353													24	74					0	0	0	0	G	89861767	T	G	89861767	2	3	207	1	0	0	0	0	0	0	0	1	15368	1799	63	5		5	STEAP2	7	89861767	Silent	SNP	T	TCGA-CR-7383-01A-11D-2129-08	39250143	89861767	69276896	56	36880											
SRRT	51593	broad.mit.edu	37	chr7	100479790	100479790	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacggaggccgtcaagcgctAtaatgactacaagctggatt	12	8	12	9	3	1	1	1	1	0	0	1	4	1	3	1	3	3	2	1	3	5	4			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:100479790A>G	ENST00000388793.4	+	5	735	c.515A>G	c.(514-516)tAt>tGt	p.Y172C	SRRT_ENST00000457580.2_Missense_Mutation_p.Y172C|SRRT_ENST00000347433.4_Missense_Mutation_p.Y172C|SRRT_ENST00000432932.1_Missense_Mutation_p.Y172C	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	172					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GTCAAGCGCTATAATGACTAC	0.557													16	125					0	0	0	0	G	100479790	A	G	100479790	3	3	207	1	0	0	0	0	1	0	0	0	15262	449	16	5	529	5	SRRT	7	100479790	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08	10618023	100479790	58658873	57	36881											
HTR5A	3361	broad.mit.edu	37	chr7	154863042	154863042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctactggtccatcacgCgccacatggaatacacgctc	10	7	8	16	4	1	0	1	0	0	0	3	1	2	1	3	2	2	2	3	2	3	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:154863042C>T	ENST00000287907.2	+	1	1009	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	145						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTCCATCACGCGCCACATGGA	0.632													30	106					0	0	0	0	T	154863042	C	T	154863042	3	4	207	1	0	0	0	0	1	0	0	0	7503	768	27	1	435	1	HTR5A	7	154863042	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	54383252	154863042	4275621	58	36882											
WDR60	55112	broad.mit.edu	37	chr7	158738290	158738290	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctggtggccatggctgcGgtgggtgagcctgagaaggc	6	7	20	8	1	0	2	0	2	0	1	0	3	0	2	2	7	2	2	2	7	1	0			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:158738290G>T	ENST00000407559.3	+	25	3179	c.3021G>T	c.(3019-3021)gcG>gcT	p.A1007A		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	1007										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CCATGGCTGCGGTGGGTGAGC	0.622													3	26					0.00909568	0.00929341	1	0	T	158738290	G	T	158738290	2	4	207	1	0	0	0	0	0	0	0	1	17407	1103	39	3		3	WDR60	7	158738290	Silent	SNP	G	TCGA-CR-7383-01A-11D-2129-08	3875248	158738290	400373	59	36883											
ST18	9705	broad.mit.edu	37	chr8	53062328	53062328	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcttcccgtgagttttgctAtagttgataggagtgtccca	7	15	11	8	1	1	2	0	2	1	0	3	3	3	3	2	1	1	3	2	1	3	7			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:53062328A>T	ENST00000276480.7	-	16	2699	c.2016T>A	c.(2014-2016)taT>taA	p.Y672*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	672						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGTTTTGCTATAGTTGATAG	0.443													8	76					0	0	0	0	T	53062328	A	T	53062328	4	4	207	1	0	0	0	0	0	1	0	0	15302	456	16	5	1171	5	ST18	8	53062328	Nonsense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08		53062328	93301694	60	36884											
SLC26A7	115111	broad.mit.edu	37	chr8	92365191	92365191	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaatacagttccgagatttAaaaaaatattggaatgtgga	17	12	8	4	1	0	1	0	0	0	1	1	4	1	3	1	2	1	1	1	2	8	7			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:92365191A>T	ENST00000276609.3	+	11	1520	c.1281A>T	c.(1279-1281)ttA>ttT	p.L427F	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.L427F|SLC26A7_ENST00000309536.2_Missense_Mutation_p.L427F	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	427						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCCGAGATTTAAAAAAATATT	0.328													15	160					0	0	0	0	T	92365191	A	T	92365191	3	4	207	1	0	0	0	0	1	0	0	0	14610	359	13	5	1319	5	SLC26A7	8	92365191	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08	39302863	92365191	53998831	61	36885											
VPS13B	157680	broad.mit.edu	37	chr8	100287445	100287445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatttgatggccttcacaatCcaagttccacaatatattga	13	13	6	9	0	1	2	1	2	0	0	3	3	3	2	3	1	0	1	3	1	5	6			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:100287445C>G	ENST00000395996.1	+	19	2898	c.2787C>G	c.(2785-2787)atC>atG	p.I929M	VPS13B_ENST00000358544.2_Missense_Mutation_p.I929M|VPS13B_ENST00000357162.2_Missense_Mutation_p.I929M			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	929					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTTCACAATCCAAGTTCCAC	0.398													43	292					0	0	0	0	G	100287445	C	G	100287445	3	3	207	1	0	0	0	0	1	0	0	0	17286	845	30	2	2980	2	VPS13B	8	100287445	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	7922254	100287445	46076577	62	36886											
SLC25A32	81034	broad.mit.edu	37	chr8	104419953	104419953	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtccatcaagtttccaaaTggtagtcaagcaatgtaaaa	16	11	7	7	0	2	0	2	0	0	0	4	0	4	0	2	1	1	4	2	1	8	4			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:104419953T>C	ENST00000297578.4	-	2	380	c.214A>G	c.(214-216)Att>Gtt	p.I72V	SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	72					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	AGTTTCCAAATGGTAGTCAAG	0.408													32	240					0	0	0	0	C	104419953	T	C	104419953	3	2	207	1	0	0	0	0	1	0	0	0	14584	1464	51	5	757	5	SLC25A32	8	104419953	Missense_Mutation	SNP	T	TCGA-CR-7383-01A-11D-2129-08	4132508	104419953	41944069	63	36887											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-																															cctgtgaaacccaccacgccTttttcccatattacggacat																										TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aafs	p.K362fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478													7	667	---	---	---	---					-	105440214	T	-	105440214	7	5	207	1	0	1	0	1	0	0	0	0	4782	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-CR-7383-01A-11D-2129-08	1020261	105440214	40923808	64	36888											
LRP12	29967	broad.mit.edu	37	chr8	105509897	105509897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgtaaaatgactttacGgtgatcaccagtgtctatta	13	12	9	7	2	2	2	1	2	1	0	2	3	2	2	1	1	2	1	1	1	6	5			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:105509897G>T	ENST00000276654.5	-	5	991	c.883C>A	c.(883-885)Cgt>Agt	p.R295S	LRP12_ENST00000424843.2_Missense_Mutation_p.R276S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	295	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATGACTTTACGGTGATCACCA	0.358													10	122					3.86212e-05	4.07909e-05	1	0	T	105509897	G	T	105509897	3	4	207	1	0	0	0	0	1	0	0	0	9018	1116	39	3	1708	3	LRP12	8	105509897	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	69683	105509897	40854125	65	36889											
ADCY8	114	broad.mit.edu	37	chr8	131922053	131922053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaaacaccgcacagcaccGagccggagtggattccaatc	13	4	9	15	3	0	0	0	0	0	0	2	3	1	2	5	2	3	2	5	2	3	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:131922053G>A	ENST00000286355.5	-	6	3633	c.1541C>T	c.(1540-1542)tCg>tTg	p.S514L	ADCY8_ENST00000377928.3_Missense_Mutation_p.S514L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	514					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCACAGCACCGAGCCGGAGTG	0.478										HNSCC(32;0.087)			25	177					0	0	0	0	A	131922053	G	A	131922053	3	1	207	1	0	0	0	0	1	0	0	0	300	1059	37	1	2266	1	ADCY8	8	131922053	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	26412156	131922053	14441969	66	36890											
PLEC	5339	broad.mit.edu	37	chr8	145001198	145001198	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcttcttggccggggAggccaccggctcaagctgcg	4	8	16	13	3	2	0	1	0	1	0	2	1	2	1	3	6	2	3	3	6	1	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:145001198A>T	ENST00000322810.4	-	29	4472	c.4303T>A	c.(4303-4305)Tcc>Acc	p.S1435T	PLEC_ENST00000345136.3_Missense_Mutation_p.S1298T|PLEC_ENST00000527096.1_Missense_Mutation_p.S1321T|PLEC_ENST00000398774.2_Missense_Mutation_p.S1266T|PLEC_ENST00000354589.3_Missense_Mutation_p.S1298T|PLEC_ENST00000357649.2_Missense_Mutation_p.S1302T|PLEC_ENST00000356346.3_Missense_Mutation_p.S1284T|PLEC_ENST00000436759.2_Missense_Mutation_p.S1325T|PLEC_ENST00000354958.2_Missense_Mutation_p.S1276T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1435	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGGCCGGGGAGGCCACCGGC	0.642													21	97					0	0	0	0	T	145001198	A	T	145001198	3	4	207	1	0	0	0	0	1	0	0	0	12124	304	11	5	9767	5	PLEC	8	145001198	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08	13079145	145001198	1362824	67	36891											
GLDC	2731	broad.mit.edu	37	chr9	6587232	6587232	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgatatccttgagcttGatccagaggcacaaaggggt	10	10	12	9	0	0	4	0	3	0	1	2	4	2	4	2	3	2	3	2	3	2	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr9:6587232G>A	ENST00000321612.6	-	15	1909	c.1759C>T	c.(1759-1761)Caa>Taa	p.Q587*		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	587					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCTTGAGCTTGATCCAGAGGC	0.403													31	78					0	0	0	0	A	6587232	G	A	6587232	4	1	207	1	0	0	0	0	0	1	0	0	6484	1299	45	2	1347	2	GLDC	9	6587232	Nonsense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08		6587232	134626199	68	36892											
ECM2	1842	broad.mit.edu	37	chr9	95280053	95280053	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcacatggtttcatcacAaagaactcttccatctgagc	12	11	7	11	0	4	2	2	1	2	1	5	2	5	2	1	2	2	2	1	2	2	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr9:95280053A>T	ENST00000344604.5	-	3	546	c.397T>A	c.(397-399)Tgt>Agt	p.C133S	ECM2_ENST00000375540.1_Missense_Mutation_p.C133S|CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.C133S	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	133	VWFC.				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						GTTTCATCACAAAGAACTCTT	0.522													113	163					0	0	0	0	T	95280053	A	T	95280053	3	4	207	1	0	0	0	0	1	0	0	0	4934	130	5	5	1734	5	ECM2	9	95280053	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08	88692821	95280053	45933378	69	36893											
BSPRY	54836	broad.mit.edu	37	chr9	116130642	116130642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacccaactctgggcaacgGcggttcttgggtctctctca	6	11	11	13	2	4	1	1	1	4	0	6	1	4	1	1	4	2	2	1	4	2	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr9:116130642G>A	ENST00000374183.4	+	5	700	c.661G>A	c.(661-663)Gcg>Acg	p.A221T	BSPRY_ENST00000462085.1_Intron	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	221	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTGGGCAACGGCGGTTCTTGG	0.527													22	176					0	0	0	0	A	116130642	G	A	116130642	3	1	207	1	0	0	0	0	1	0	0	0	1540	1203	42	4	679	4	BSPRY	9	116130642	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	20850589	116130642	25082789	70	36894											
SORCS1	114815	broad.mit.edu	37	chr10	108716285	108716285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatacctccaaagcgagctCtctgtgatgctccccaggtt	9	10	8	14	1	1	1	0	1	1	0	4	2	3	1	4	1	4	3	4	1	2	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr10:108716285C>G	ENST00000263054.6	-	2	619	c.612G>C	c.(610-612)gaG>gaC	p.E204D	SORCS1_ENST00000344440.6_Missense_Mutation_p.E204D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	204						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAAGCGAGCTCTCTGTGATGC	0.418													35	54					0	0	0	0	G	108716285	C	G	108716285	3	3	207	1	0	0	0	0	1	0	0	0	15018	912	32	2	3228	2	SORCS1	10	108716285	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08		108716285	26818462	71	36895											
BCCIP	56647	broad.mit.edu	37	chr10	127519144	127519144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatagcaaacggatgtttCagaagacagcaatgatgata	19	8	9	5	1	1	4	1	2	0	2	1	5	1	5	0	1	3	3	0	1	7	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr10:127519144C>T	ENST00000299130.3	+	4	347	c.335C>T	c.(334-336)tCa>tTa	p.S112L	BCCIP_ENST00000368759.5_Missense_Mutation_p.S112L|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000278100.6_Missense_Mutation_p.S112L	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	112	Interaction with BRCA2.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACGGATGTTTCAGAAGACAGC	0.313													14	123					0	0	0	0	T	127519144	C	T	127519144	3	4	207	1	0	0	0	0	1	0	0	0	1360	838	29	2	349	2	BCCIP	10	127519144	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	18802859	127519144	8015603	72	36896											
PWWP2B	170394	broad.mit.edu	37	chr10	134219279	134219279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgagtcggcgtgcagcagCgacagcctggacgaggccag	9	4	17	11	4	0	1	0	1	0	0	1	4	0	2	2	3	4	2	2	3	0	0			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr10:134219279C>G	ENST00000305233.5	+	2	1334	c.1275C>G	c.(1273-1275)agC>agG	p.S425R	PWWP2B_ENST00000368609.4_Missense_Mutation_p.S425R	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	425										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGTGCAGCAGCGACAGCCTGG	0.692													10	89					0	0	0	0	G	134219279	C	G	134219279	3	3	207	1	0	0	0	0	1	0	0	0	12928	767	27	3	1281	3	PWWP2B	10	134219279	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	6700135	134219279	1315468	73	36897											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57080223	57080223	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtcacggcctcctcctCaacaggcagtgcctgtccag	7	8	11	15	1	2	0	2	0	0	0	5	0	5	0	5	3	2	1	5	3	2	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:57080223C>A	ENST00000532437.1	-	4	2250	c.1939G>T	c.(1939-1941)Gag>Tag	p.E647*	TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.E647*			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	647	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCCTCCTCCTCAACAGGCAGT	0.647													21	75					0.000132079	0.00013872	1	0	A	57080223	C	A	57080223	4	1	207	1	0	0	0	0	0	1	0	0	16414	835	29	2	3278	2	TNKS1BP1	11	57080223	Nonsense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08		57080223	77926293	74	36898											
DAGLA	747	broad.mit.edu	37	chr11	61505662	61505662	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcctggatgtcctgcagCgaagcaccaagcccaaagtg	11	6	11	13	1	0	0	0	0	0	0	2	2	2	1	4	1	5	3	4	1	3	0			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:61505662C>T	ENST00000257215.5	+	16	1755	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	547					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGTCCTGCAGCGAAGCACCAA	0.642													19	60					0	0	0	0	T	61505662	C	T	61505662	4	4	207	1	0	0	0	0	0	1	0	0	4259	760	27	1	1697	1	DAGLA	11	61505662	Nonsense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	4425439	61505662	73500854	75	36899											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62488775	62488775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagattaatacctgatcaaGaataaagttcctctttgtcc	13	14	5	9	0	3	3	2	1	1	2	5	3	5	3	3	0	1	1	3	0	6	5			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:62488775G>A	ENST00000301785.5	-	9	1795	c.1603C>T	c.(1603-1605)Ctt>Ttt	p.L535F	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.L535F	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	535					cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACCTGATCAAGAATAAAGTTC	0.428													20	472					0	0	0	0	A	62488775	G	A	62488775	3	1	207	1	0	0	0	0	1	0	0	0	7325	942	33	2	664	2	HNRNPUL2	11	62488775	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	983113	62488775	72517741	76	36900											
SIPA1	6494	broad.mit.edu	37	chr11	65417519	65417519	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggagtcgctgtcccgaGagggtgaggccaccagggtg	6	8	17	10	2	1	2	0	1	1	1	3	4	2	3	3	4	0	1	3	4	0	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:65417519G>T	ENST00000394224.3	+	13	3141	c.2845G>T	c.(2845-2847)Gag>Tag	p.E949*	SIPA1_ENST00000527525.1_Nonsense_Mutation_p.E847*|SIPA1_ENST00000534313.1_Nonsense_Mutation_p.E949*|SIPA1_ENST00000394227.3_Nonsense_Mutation_p.E847*	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	949					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GCTGTCCCGAGAGGGTGAGGC	0.627													43	135					1.62957e-23	1.89111e-23	1	0	T	65417519	G	T	65417519	4	4	207	1	0	0	0	0	0	1	0	0	14416	943	33	2	2891	2	SIPA1	11	65417519	Nonsense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	2928744	65417519	69588997	77	36901											
DEFB108B	245911	broad.mit.edu	37	chr11	71548597	71548597	+	Frame_Shift_Del	DEL	A	A	-																															gaattgagagcactacacccAaaaaggactgaagcctgttg																										TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:71548597delA	ENST00000328698.1	+	2	211	c.211delA	c.(211-213)aafs	p.K72fs	DEFB108B_ENST00000529157.1_3'UTR	NM_001002035.1	NP_001002035.1	Q8NET1	D108B_HUMAN	defensin, beta 108B	72					defense response to bacterium	extracellular region				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						CACTACACCCAAAAAGGACTG	0.458													7	1731	---	---	---	---					-	71548597	A	-	71548597	7	5	207	1	0	1	0	1	0	0	0	0	4435	131	5	0	217	0	DEFB108B	11	71548597	Frame_Shift_Del	DEL	A	TCGA-CR-7383-01A-11D-2129-08	6131078	71548597	63457919	78	36902											
EXPH5	23086	broad.mit.edu	37	chr11	108380358	108380358	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtccactgggtcatcctcaTagatattaagcggttcactt	10	13	8	10	1	3	1	3	0	0	1	5	1	5	1	2	2	1	1	2	2	3	5			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:108380358T>C	ENST00000265843.4	-	6	5986	c.5876A>G	c.(5875-5877)tAt>tGt	p.Y1959C	EXPH5_ENST00000525344.1_Missense_Mutation_p.Y1952C|EXPH5_ENST00000443411.1_Missense_Mutation_p.Y1771C|EXPH5_ENST00000428840.1_Missense_Mutation_p.Y1883C	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1959					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTCATCCTCATAGATATTAAG	0.448													68	143					0	0	0	0	C	108380358	T	C	108380358	3	2	207	1	0	0	0	0	1	0	0	0	5360	1406	49	5	97	5	EXPH5	11	108380358	Missense_Mutation	SNP	T	TCGA-CR-7383-01A-11D-2129-08	36831761	108380358	26626158	79	36903											
OR4D5	219875	broad.mit.edu	37	chr11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccccatggacaaggccGtctctgtgctatacacaatt	10	11	7	13	1	1	0	0	0	1	0	3	1	2	1	3	2	2	1	3	2	4	4			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:123811134G>A	ENST00000307033.2	+	1	885	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V271I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493													45	97					0	0	0	0	A	123811134	G	A	123811134	3	1	207	1	0	0	0	0	1	0	0	0	11128	1145	40	1	813	1	OR4D5	11	123811134	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	15430776	123811134	11195382	80	36904											
ACRBP	84519	broad.mit.edu	37	chr12	6753641	6753641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcggctcctgcctgtgCtccactccttgctcctgctt	1	15	9	16	1	0	0	0	0	0	0	5	0	4	0	5	1	4	4	5	1	0	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:6753641C>T	ENST00000229243.2	-	5	699	c.606G>A	c.(604-606)gaG>gaA	p.E202E	ACRBP_ENST00000414226.2_Silent_p.E169E|ACRBP_ENST00000536350.1_Silent_p.E202E	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	202						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CCTGCCTGTGCTCCACTCCTT	0.567													41	172					0	0	0	0	T	6753641	C	T	6753641	2	4	207	1	0	0	0	0	0	0	0	1	170	796	28	4		4	ACRBP	12	6753641	Silent	SNP	C	TCGA-CR-7383-01A-11D-2129-08		6753641	127098254	81	36905											
PRB3	5544	broad.mit.edu	37	chr12	11421068	11421068	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctccttgtgggcgtcGtccttctggctttcctggag	1	16	12	12	2	1	0	0	0	1	0	6	1	5	1	4	3	0	2	4	3	0	4			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:11421068G>A	ENST00000381842.3	-	0	152				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGTGGGCGTCGTCCTTCTGGC	0.547													48	145					0	0	0	0	A	11421068	G	A	11421068	1	1	207	0	1	0	0	0	0	0	0	0	12524	1153	40	1		1	PRB3	12	11421068	RNA	SNP	G	TCGA-CR-7383-01A-11D-2129-08	4667427	11421068	122430827	82	36906											
PRB2	653247	broad.mit.edu	37	chr12	11545926	11545926	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttgtggctttcctggAggagatcgggcacttcggga	5	11	16	9	2	0	1	0	0	0	1	4	4	2	3	2	6	0	2	2	6	0	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:11545926A>G	ENST00000389362.4	-	3	1121	c.1086T>C	c.(1084-1086)ccT>ccC	p.P362P	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCTTTCCTGGAGGAGATCGGG	0.612													137	503					0	0	0	0	G	11545926	A	G	11545926	2	3	207	1	0	0	0	0	0	0	0	1	12523	291	11	5		5	PRB2	12	11545926	Silent	SNP	A	TCGA-CR-7383-01A-11D-2129-08	124858	11545926	122305969	83	36907											
GRIN2B	2904	broad.mit.edu	37	chr12	13828761	13828761	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcttcactgaaggacaaaTtcctcccctcaaaagtgaca	14	9	5	13	0	3	2	2	2	1	0	5	3	5	3	3	1	0	0	3	1	4	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:13828761T>G	ENST00000279593.3	-	4	1252	c.1043A>C	c.(1042-1044)aAt>aCt	p.N348T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	348					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAAGGACAAATTCCTCCCCTC	0.408													35	117					0	0	0	0	G	13828761	T	G	13828761	3	3	207	1	0	0	0	0	1	0	0	0	6830	1493	52	5	3451	5	GRIN2B	12	13828761	Missense_Mutation	SNP	T	TCGA-CR-7383-01A-11D-2129-08	2282835	13828761	120023134	84	36908											
LRRK2	120892	broad.mit.edu	37	chr12	40681270	40681270	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgctgtctaaatttgAtgaatggacctttattcctg	10	16	9	6	0	1	3	0	2	1	1	2	4	2	4	2	1	1	1	2	1	4	5			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:40681270A>T	ENST00000298910.7	+	20	2676	c.2618A>T	c.(2617-2619)gAt>gTt	p.D873V	LRRK2_ENST00000343742.2_Missense_Mutation_p.D873V	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	873					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCTAAATTTGATGAATGGACC	0.383													11	80					0	0	0	0	T	40681270	A	T	40681270	3	4	207	1	0	0	0	0	1	0	0	0	9097	333	12	5	2696	5	LRRK2	12	40681270	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08	26852509	40681270	93170625	85	36909											
LRP1	4035	broad.mit.edu	37	chr12	57602910	57602910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggctgtactgggcagacGccaagctttcagtcatcggc	8	8	13	12	3	2	1	2	0	0	1	3	1	2	1	1	3	3	4	1	3	2	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:57602910G>T	ENST00000243077.3	+	79	12656	c.12190G>T	c.(12190-12192)Gcc>Tcc	p.A4064S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4064					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGGCAGACGCCAAGCTTTC	0.617													19	88					0.00188189	0.00195467	1	0	T	57602910	G	T	57602910	3	4	207	1	0	0	0	0	1	0	0	0	9015	1087	38	3	12504	3	LRP1	12	57602910	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	16921640	57602910	76248985	86	36910											
SCYL2	55681	broad.mit.edu	37	chr12	100728042	100728042	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catataatgcaagaacagcaGaagtaagtaggttgcacatg	17	8	10	6	0	0	2	0	0	0	2	0	2	0	2	0	1	4	6	0	1	7	5			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:100728042G>A	ENST00000360820.2	+	14	2297	c.1860G>A	c.(1858-1860)caG>caA	p.Q620Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	620					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AAGAACAGCAGAAGTAAGTAG	0.338													24	70					0	0	0	0	A	100728042	G	A	100728042	2	1	207	1	0	0	0	0	0	0	0	1	14035	933	33	2		2	SCYL2	12	100728042	Silent	SNP	G	TCGA-CR-7383-01A-11D-2129-08	43125132	100728042	33123853	87	36911											
CIT	11113	broad.mit.edu	37	chr12	120214570	120214570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattcgtagagatcactcCgtcttcttgctgagacaaga	11	11	9	10	2	3	4	1	1	2	4	5	6	4	4	1	0	1	2	1	0	2	4			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:120214570C>T	ENST00000392521.2	-	14	1797	c.1742G>A	c.(1741-1743)cGg>cAg	p.R581Q	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R581Q	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	581					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGATCACTCCGTCTTCTTGC	0.448													76	135					0	0	0	0	T	120214570	C	T	120214570	3	4	207	1	0	0	0	0	1	0	0	0	3468	652	23	1	4477	1	CIT	12	120214570	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	19486528	120214570	13637325	88	36912											
HNF1A	6927	broad.mit.edu	37	chr12	121432043	121432043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgtcacggaggtgcgtGtctacaactggtttgccaac	8	10	11	12	3	2	0	1	0	1	0	3	1	2	1	2	3	5	1	2	3	3	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:121432043G>A	ENST00000257555.6	+	4	1016	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	HNF1A_ENST00000544413.1_Missense_Mutation_p.V264I|HNF1A_ENST00000541395.1_Missense_Mutation_p.V264I|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Missense_Mutation_p.V264I|HNF1A_ENST00000543427.1_Missense_Mutation_p.V147I|HNF1A_ENST00000402929.1_Missense_Mutation_p.V264I			P20823	HNF1A_HUMAN	HNF1 homeobox A	264	Interaction with DNA.				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAGGTGCGTGTCTACAACTG	0.647									Hepatic Adenoma, Familial Clustering of				16	28					0	0	0	0	A	121432043	G	A	121432043	3	1	207	1	0	0	0	0	1	0	0	0	7301	1377	48	4	804	4	HNF1A	12	121432043	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	1217473	121432043	12419852	89	36913											
FLT1	2321	broad.mit.edu	37	chr13	28880897	28880897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccaacagagtgctgctgtCgccctggtagtcctaggggg	6	8	16	11	1	0	1	0	0	0	1	2	1	1	1	3	4	3	3	3	4	3	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr13:28880897C>T	ENST00000282397.4	-	29	3984	c.3733G>A	c.(3733-3735)Gac>Aac	p.D1245N	FLT1_ENST00000540678.1_Missense_Mutation_p.D463N|FLT1_ENST00000543394.1_Missense_Mutation_p.D268N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1245					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTGCTGCTGTCGCCCTGGTAG	0.552													26	83					0	0	0	0	T	28880897	C	T	28880897	3	4	207	1	0	0	0	0	1	0	0	0	5986	884	31	1	291	1	FLT1	13	28880897	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08		28880897	86288981	90	36914											
N4BP2L2	10443	broad.mit.edu	37	chr13	33091954	33091954	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatttaatgattatttgtGacacagacacgattatgtga	14	15	7	5	1	0	4	0	3	0	1	0	5	0	4	0	0	0	0	0	0	4	6			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr13:33091954G>T	ENST00000267068.3	-	6	1901	c.1737C>A	c.(1735-1737)gtC>gtA	p.V579V	N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000446957.2_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	579										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GATTATTTGTGACACAGACAC	0.413													14	76					6.31663e-08	6.86431e-08	1	0	T	33091954	G	T	33091954	2	4	207	1	0	0	0	0	0	0	0	1	10182	1277	45	2		2	N4BP2L2	13	33091954	Silent	SNP	G	TCGA-CR-7383-01A-11D-2129-08	4211057	33091954	82077924	91	36915											
OLFM4	10562	broad.mit.edu	37	chr13	53616150	53616150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatttcttacactgaactgGacttcgagctgatcaaggta	11	12	8	10	1	2	2	1	2	1	0	3	4	2	3	1	2	3	2	1	2	4	4			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr13:53616150G>T	ENST00000219022.2	+	3	541	c.463G>T	c.(463-465)Gac>Tac	p.D155Y		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	155					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CACTGAACTGGACTTCGAGCT	0.403													32	90					9.65021e-13	1.10624e-12	1	0	T	53616150	G	T	53616150	3	4	207	1	0	0	0	0	1	0	0	0	10926	1174	41	2	473	2	OLFM4	13	53616150	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	20524196	53616150	61553728	92	36916											
GPC5	2262	broad.mit.edu	37	chr13	92560274	92560274	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaggaattgatcctgtgaTaaatcagattattgataaac	17	12	7	5	0	1	4	1	3	0	1	2	5	2	5	1	1	1	0	1	1	7	5			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr13:92560274T>C	ENST00000377067.3	+	6	1736	c.1364T>C	c.(1363-1365)aTa>aCa	p.I455T		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	455						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GATCCTGTGATAAATCAGATT	0.358													21	63					0	0	0	0	C	92560274	T	C	92560274	3	2	207	1	0	0	0	0	1	0	0	0	6650	1406	49	5	1386	5	GPC5	13	92560274	Missense_Mutation	SNP	T	TCGA-CR-7383-01A-11D-2129-08	38944124	92560274	22609604	93	36917											
PTGER2	5732	broad.mit.edu	37	chr14	52794093	52794093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcagtcctctgttgtcGgatttcattaagaacacaag	10	13	9	9	2	3	1	2	0	1	1	5	2	4	2	1	1	1	2	1	1	3	4			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr14:52794093G>A	ENST00000245457.5	+	2	1152	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	PTGER2_ENST00000557436.1_Missense_Mutation_p.R78Q	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	333						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CTCTGTTGTCGGATTTCATTA	0.408													35	139					0	0	0	0	A	52794093	G	A	52794093	3	1	207	1	0	0	0	0	1	0	0	0	12823	1116	39	1	1004	1	PTGER2	14	52794093	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08		52794093	54555447	94	36918											
LGMN	5641	broad.mit.edu	37	chr14	93176022	93176022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaccactactcacatccaGatgccgctggatctcctccg	8	10	6	17	2	3	1	2	0	1	1	6	2	5	2	5	1	2	1	5	1	1	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr14:93176022G>A	ENST00000393218.2	-	12	1352	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L	LGMN_ENST00000334869.4_Silent_p.L339L|LGMN_ENST00000555699.1_Silent_p.L339L|LGMN_ENST00000557434.1_Silent_p.L339L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	339					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CTCACATCCAGATGCCGCTGG	0.592													62	240					0	0	0	0	A	93176022	G	A	93176022	2	1	207	1	0	0	0	0	0	0	0	1	8809	933	33	2		2	LGMN	14	93176022	Silent	SNP	G	TCGA-CR-7383-01A-11D-2129-08	40381929	93176022	14173518	95	36919											
ACSM2B	348158	broad.mit.edu	37	chr16	20559465	20559465	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtttctggaagaagggaCtcccctccagcgaggcagtt	10	8	13	10	1	1	2	0	0	1	2	3	5	3	4	3	3	1	3	3	3	2	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:20559465C>T	ENST00000329697.6	-	8	1185	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E	ACSM2B_ENST00000565322.1_Silent_p.E260E|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Silent_p.E339E|ACSM2B_ENST00000567001.1_Silent_p.E339E	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	339					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GAAGAAGGGACTCCCCTCCAG	0.527													98	208					0	0	0	0	T	20559465	C	T	20559465	2	4	207	1	0	0	0	0	0	0	0	1	184	564	20	4		4	ACSM2B	16	20559465	Silent	SNP	C	TCGA-CR-7383-01A-11D-2129-08		20559465	69795288	96	36920											
TAOK2	9344	broad.mit.edu	37	chr16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-																															atgcctcagacaacgaggaaGaggaggaggaggaggaggaa																										TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)del	p.E392del	TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611													7	136	---	---	---	---					-	29994533	GAG	-	29994531	7	5	207	1	0	1	0	1	0	0	0	0	15639	943	33	0	1180	0	TAOK2	16	29994531	In_Frame_Del	DEL	GAG	TCGA-CR-7383-01A-11D-2129-08	9435066	29994531	60360222	97	36921											
MARVELD3	91862	broad.mit.edu	37	chr16	71663461	71663461	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttctggaagggatggtctGagctggtgaagcaaaaattt	11	11	15	4	0	2	2	0	2	2	0	2	4	2	4	0	5	2	3	0	5	4	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:71663461G>A	ENST00000567566.1	+	2	728	c.659G>A	c.(658-660)tGa>tAa	p.*220*	MARVELD3_ENST00000268485.3_Intron|MARVELD3_ENST00000567501.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron			Q96A59	MALD3_HUMAN	MARVEL domain containing 3	0	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGGATGGTCTGAGCTGGTGAA	0.403													11	66					0	0	0	0	A	71663461	G	A	71663461	2	1	207	1	0	0	0	0	0	0	0	1	9388	1305	45	2		2	MARVELD3	16	71663461	Silent	SNP	G	TCGA-CR-7383-01A-11D-2129-08	41668930	71663461	18691292	98	36922											
MC1R	4157	broad.mit.edu	37	chr16	89986164	89986164	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgcggcgagccgttgcGgccatctgggtggccagtgt	3	7	19	12	6	1	0	0	0	1	0	1	1	1	0	3	5	2	1	3	5	0	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:89986164G>A	ENST00000555427.1	+	3	2801	c.498G>A	c.(496-498)gcG>gcA	p.A166A	TUBB3_ENST00000556922.1_Silent_p.A166A|MC1R_ENST00000555147.1_Silent_p.A166A					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAGCCGTTGCGGCCATCTGGG	0.647									Melanoma, Familial Clustering of				28	125					0	0	0	0	A	89986164	G	A	89986164	2	1	207	1	0	0	0	0	0	0	0	1	9432	1103	39	1		1	MC1R	16	89986164	Silent	SNP	G	TCGA-CR-7383-01A-11D-2129-08	18322703	89986164	368589	99	36923											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840355	1840355	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaccacagtcccaggggttgCcgttgaggcggaggaactcc	9	6	14	12	2	0	1	0	1	0	0	2	3	2	3	4	5	3	2	4	5	2	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:1840355C>A	ENST00000331238.5	-	2	779	c.761G>T	c.(760-762)gGc>gTc	p.G254V		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	254					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CCAGGGGTTGCCGTTGAGGCG	0.682													19	19					4.35082e-09	4.78335e-09	1	0	A	1840355	C	A	1840355	3	1	207	1	0	0	0	0	1	0	0	0	13816	739	26	4	568	4	RTN4RL1	17	1840355	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08		1840355	79354855	100	36924											
TP53	7157	broad.mit.edu	37	chr17	7576852	7576852	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggtcccaagacttagtaCctgaagggtgaaatattctc	13	10	10	8	0	1	4	0	2	1	2	3	4	2	4	2	2	1	1	2	2	6	4	rs11575997		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:7576852C>T	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(24)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGACTTAGTACCTGAAGGGTG	0.458		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			66	68					0	0	0	0	T	7576852	C	T	7576852	5	4	207	1	0	0	0	0	0	0	1	0	16476	521	18	4	288	4	TP53	17	7576852	Splice_Site	SNP	C	TCGA-CR-7383-01A-11D-2129-08	5736497	7576852	73618358	101	36925											
TEKT3	64518	broad.mit.edu	37	chr17	15231310	15231310	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttcccccacatttaccGtcagcagttgtgcttcaact	8	13	6	14	1	2	0	2	0	0	0	3	0	3	0	3	0	4	4	3	0	2	5	rs143165525	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:15231310G>A	ENST00000395930.1	-	4	848	c.663_splice	c.e4+1	p.T221_splice	TEKT3_ENST00000338696.2_Splice_Site_p.T221_splice	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	221					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CACATTTACCGTCAGCAGTTG	0.383													44	136					0	0	0	0	A	15231310	G	A	15231310	5	1	207	1	0	0	0	0	0	0	1	0	15848	1159	40	1	834	1	TEKT3	17	15231310	Splice_Site	SNP	G	TCGA-CR-7383-01A-11D-2129-08	7654458	15231310	65963900	102	36926											
SLC5A10	125206	broad.mit.edu	37	chr17	18923025	18923025	+	Splice_Site	SNP	G	G	A																															ccctgcctccctcctccccaGggggccttctggggcctgat																										TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:18923025G>A	ENST00000317977.6	+	13	1891		c.e13-1		SLC5A10_ENST00000395642.1_Splice_Site|SLC5A10_ENST00000395647.2_Splice_Site|SLC5A10_ENST00000417251.2_Splice_Site|SLC5A10_ENST00000395643.2_Splice_Site|SLC5A10_ENST00000395645.3_Splice_Site			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10						sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CTCCTCCCCAGGGGGCCTTCT	0.682													4	41					0	0	0	0	A	18923025	G	A	18923025	5	1	207	1	0	0	0	0	0	0	1	0	14750	1014	35	4	1508	4	SLC5A10	17	18923025	Splice_Site	SNP	G	TCGA-CR-7383-01A-11D-2129-08	3691715	18923025	62272185	103	36927	286	2									
SLC5A10	125206	broad.mit.edu	37	chr17	18923032	18923032	+	Missense_Mutation	SNP	T	T	C																															tccctcctccccagggggccTtctggggcctgatagcaggg																										TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:18923032T>C	ENST00000317977.6	+	13	1898	c.1327T>C	c.(1327-1329)Ttc>Ctc	p.F443L	SLC5A10_ENST00000395642.1_Missense_Mutation_p.F443L|SLC5A10_ENST00000395647.2_Missense_Mutation_p.F489L|SLC5A10_ENST00000417251.2_Missense_Mutation_p.F437L|SLC5A10_ENST00000395643.2_Missense_Mutation_p.F446L|SLC5A10_ENST00000395645.3_Missense_Mutation_p.F473L			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	473					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCAGGGGGCCTTCTGGGGCCT	0.687													4	42					0	0	0	0	C	18923032	T	C	18923032	3	2	207	1	0	0	0	0	1	0	0	0	14750	1609	56	5	1515	5	SLC5A10	17	18923032	Missense_Mutation	SNP	T	TCGA-CR-7383-01A-11D-2129-08	7	18923032	62272178	104	36928	286	2									
SLC13A2	9058	broad.mit.edu	37	chr17	26817912	26817912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaccaagtccccagaaggagGtgaccaagcttggtgagaaa	15	5	12	9	0	0	3	0	2	0	2	1	5	1	4	4	3	2	1	4	3	5	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:26817912G>C	ENST00000444914.3	+	4	1129	c.709G>C	c.(709-711)Gtg>Ctg	p.V237L	SLC13A2_ENST00000314669.5_Missense_Mutation_p.V188L|SLC13A2_ENST00000545060.1_Missense_Mutation_p.V145L|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V117L	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	188						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCAGAAGGAGGTGACCAAGCT	0.582													10	43					0	0	0	0	C	26817912	G	C	26817912	3	2	207	1	0	0	0	0	1	0	0	0	14480	1261	44	4	723	4	SLC13A2	17	26817912	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	7894880	26817912	54377298	105	36929											
ACACA	31	broad.mit.edu	37	chr17	35600294	35600294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctataaatacctgctggCtgggaaactgacagaggact	13	9	10	9	0	0	2	0	1	0	1	1	4	1	4	2	3	3	2	2	3	5	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:35600294C>T	ENST00000353139.5	-	22	3405	c.2924G>A	c.(2923-2925)aGc>aAc	p.S975N	ACACA_ENST00000360679.3_Missense_Mutation_p.S880N|ACACA_ENST00000335166.5_Missense_Mutation_p.S860N|ACACA_ENST00000394406.2_Missense_Mutation_p.S938N	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	938					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TACCTGCTGGCTGGGAAACTG	0.428													29	220					0	0	0	0	T	35600294	C	T	35600294	3	4	207	1	0	0	0	0	1	0	0	0	106	797	28	4	4367	4	ACACA	17	35600294	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	8782382	35600294	45594916	106	36930											
MAPT	4137	broad.mit.edu	37	chr17	44060805	44060805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggggcaaagagaggcCggggagcaaggaggaggtgg	11	1	24	5	1	0	1	0	0	0	1	0	5	0	4	1	10	1	3	1	10	2	0			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:44060805C>T	ENST00000344290.5	+	6	957	c.635C>T	c.(634-636)cCg>cTg	p.P212L	MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.P212L|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.P212L|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.P212L|MAPT_ENST00000420682.2_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	212					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AAAGAGAGGCCGGGGAGCAAG	0.692													14	44					0	0	0	0	T	44060805	C	T	44060805	3	4	207	1	0	0	0	0	1	0	0	0	9366	652	23	1	653	1	MAPT	17	44060805	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	8460511	44060805	37134405	107	36931											
BRIP1	83990	broad.mit.edu	37	chr17	59821801	59821801	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttccagttacctttctctCctttgtatttgattgcgtca	6	20	5	10	1	2	1	1	1	1	0	5	1	4	1	3	0	2	2	3	0	2	7			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:59821801C>A	ENST00000259008.2	-	15	2516	c.2249G>T	c.(2248-2250)gGa>gTa	p.G750V	BRIP1_ENST00000577598.1_Missense_Mutation_p.G750V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	750					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACCTTTCTCTCCTTTGTATTT	0.308			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					44	207					4.29476e-34	5.04634e-34	1	0	A	59821801	C	A	59821801	3	1	207	1	0	0	0	0	1	0	0	0	1522	855	30	2	1524	2	BRIP1	17	59821801	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	15760996	59821801	21373409	108	36932											
HELZ	9931	broad.mit.edu	37	chr17	65104673	65104673	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtctgccctcactggCggctgatgtaatcccagggg	6	10	12	13	1	2	1	1	1	1	0	4	1	4	1	3	4	1	2	3	4	1	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:65104673C>T	ENST00000358691.5	-	30	4825	c.4659G>A	c.(4657-4659)ccG>ccA	p.P1553P	HELZ_ENST00000580168.1_Silent_p.P1554P	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CCCTCACTGGCGGCTGATGTA	0.562													12	126					0	0	0	0	T	65104673	C	T	65104673	2	4	207	1	0	0	0	0	0	0	0	1	7099	755	27	1		1	HELZ	17	65104673	Silent	SNP	C	TCGA-CR-7383-01A-11D-2129-08	5282872	65104673	16090537	109	36933											
ITGB4	3691	broad.mit.edu	37	chr17	73725497	73725497	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcggcttcgatgccatcCtgcagacagctgtgtgcacg	7	8	14	12	3	0	1	0	0	0	1	2	2	1	1	2	2	4	4	2	2	0	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:73725497C>T	ENST00000200181.3	+	7	905	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.L240L|ITGB4_ENST00000450894.3_Silent_p.L240L|ITGB4_ENST00000449880.2_Silent_p.L240L|ITGB4_ENST00000339591.3_Silent_p.L240L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	240	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGATGCCATCCTGCAGACAGC	0.622													23	48					0	0	0	0	T	73725497	C	T	73725497	2	4	207	1	0	0	0	0	0	0	0	1	7950	680	24	4		4	ITGB4	17	73725497	Silent	SNP	C	TCGA-CR-7383-01A-11D-2129-08	8620824	73725497	7469713	110	36934											
HRH4	59340	broad.mit.edu	37	chr18	22056762	22056762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagattgttactctgatgGtggccgtttgggtgctggcc	5	14	15	7	1	1	3	0	2	1	1	1	3	1	3	2	4	2	3	2	4	2	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr18:22056762G>A	ENST00000256906.4	+	3	509	c.409G>A	c.(409-411)Gtg>Atg	p.V137M	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	137						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TACTCTGATGGTGGCCGTTTG	0.388													43	113					0	0	0	0	A	22056762	G	A	22056762	3	1	207	1	0	0	0	0	1	0	0	0	7408	1261	44	4	419	4	HRH4	18	22056762	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08		22056762	56020486	111	36935											
PMAIP1	5366	broad.mit.edu	37	chr18	57569917	57569917	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctactcaactcaggagatttGgagacaaactgaacttccgg	13	9	9	10	1	2	3	2	1	0	2	3	5	3	3	1	3	4	0	1	3	4	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr18:57569917G>A	ENST00000269518.9	+	3	410	c.248G>A	c.(247-249)tGg>tAg	p.W83*	PMAIP1_ENST00000316660.6_Missense_Mutation_p.G33R			Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	0					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding			breast(1)	1		Colorectal(73;0.0946)				CAGGAGATTTGGAGACAAACT	0.433													42	92					0	0	0	0	A	57569917	G	A	57569917	4	1	207	1	0	0	0	0	0	1	0	0	12202	1349	47	4	103	4	PMAIP1	18	57569917	Nonsense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	35513155	57569917	20507331	112	36936											
ZBTB7A	51341	broad.mit.edu	37	chr19	4054997	4054997	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcctcggcgctgacgaaGtcgatctcgtacacgttctg	7	9	12	13	7	2	1	0	1	2	0	5	3	2	1	1	1	2	3	1	1	2	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:4054997G>C	ENST00000322357.4	-	2	512	c.234C>G	c.(232-234)gaC>gaG	p.D78E	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.D78E	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	78	BTB.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTGACGAAGTCGATCTCGT	0.662													13	69					0	0	0	0	C	4054997	G	C	4054997	3	2	207	1	0	0	0	0	1	0	0	0	17648	1020	36	4	1528	4	ZBTB7A	19	4054997	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08		4054997	55073986	113	36937											
TRIP10	9322	broad.mit.edu	37	chr19	6749986	6749986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtctatgagaagacacCtcagatgggggaccccgcca	11	6	13	11	1	2	3	1	1	1	3	2	6	2	5	4	3	0	0	4	3	2	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:6749986C>T	ENST00000600428.1	+	11	1458	c.812C>T	c.(811-813)cCt>cTt	p.P271L	TRIP10_ENST00000313244.9_Missense_Mutation_p.P435L|TRIP10_ENST00000596758.1_Missense_Mutation_p.P379L|TRIP10_ENST00000313285.8_Missense_Mutation_p.P379L|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	435	Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GAGAAGACACCTCAGATGGGG	0.478													64	197					0	0	0	0	T	6749986	C	T	6749986	3	4	207	1	0	0	0	0	1	0	0	0	16649	681	24	4	1178	4	TRIP10	19	6749986	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	2694989	6749986	52378997	114	36938											
SMARCA4	6597	broad.mit.edu	37	chr19	11134270	11134270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggcccttcttgctccgacGactcaagaaggaagtcgagg	9	7	13	12	4	2	1	1	0	1	1	4	5	3	2	2	3	1	1	2	3	3	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:11134270G>A	ENST00000358026.2	+	20	3220	c.2936G>A	c.(2935-2937)cGa>cAa	p.R979Q	SMARCA4_ENST00000429416.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R979Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R979Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R979Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R979Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	979					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTGCTCCGACGACTCAAGAAG	0.577			"F, N, Mis"		NSCLC								12	29					0	0	0	0	A	11134270	G	A	11134270	3	1	207	1	0	0	0	0	1	0	0	0	14858	1058	37	1	3010	1	SMARCA4	19	11134270	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	4384284	11134270	47994713	115	36939											
CCDC151	115948	broad.mit.edu	37	chr19	11537572	11537572	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcgccttcatctgggcCttctccaggcggttctccag	3	12	10	16	2	4	0	1	0	3	0	7	0	5	0	5	3	1	1	5	3	0	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:11537572C>T	ENST00000356392.4	-	5	732	c.645G>A	c.(643-645)aaG>aaA	p.K215K	CCDC151_ENST00000586836.1_Silent_p.K24K|CCDC151_ENST00000545100.1_Silent_p.K161K|CCDC151_ENST00000591179.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	215										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TCATCTGGGCCTTCTCCAGGC	0.627													26	73					0	0	0	0	T	11537572	C	T	11537572	2	4	207	1	0	0	0	0	0	0	0	1	2811	680	24	4		4	CCDC151	19	11537572	Silent	SNP	C	TCGA-CR-7383-01A-11D-2129-08	403302	11537572	47591411	116	36940											
FXYD5	53827	broad.mit.edu	37	chr19	35657174	35657174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaacacaccctccggaaaCgggggctgttggtcgcagct	9	7	13	12	3	0	1	0	1	0	0	2	2	1	2	2	4	3	4	2	4	2	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:35657174C>T	ENST00000342879.3	+	7	1211	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W|FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W|FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W|FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	145					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTCCGGAAACGGGGGCTGTT	0.552													85	417					0	0	0	0	T	35657174	C	T	35657174	3	4	207	1	0	0	0	0	1	0	0	0	6169	527	19	1	459	1	FXYD5	19	35657174	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	24119602	35657174	23471809	117	36941											
ZNF461	92283	broad.mit.edu	37	chr19	37129598	37129598	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggaggagaggaaacctgActggcttctcgccagtatga	11	7	15	8	1	1	3	0	2	1	1	2	7	1	5	2	4	1	2	2	4	2	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:37129598A>T	ENST00000588268.1	-	6	1876	c.1649T>A	c.(1648-1650)gTc>gAc	p.V550D	ZNF461_ENST00000360357.4_Missense_Mutation_p.V527D|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGGAAACCTGACTGGCTTCTC	0.378													7	44					0	0	0	0	T	37129598	A	T	37129598	3	4	207	1	0	0	0	0	1	0	0	0	18020	275	10	5	46	5	ZNF461	19	37129598	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08	1472424	37129598	21999385	118	36942											
LIPE	3991	broad.mit.edu	37	chr19	42930494	42930494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactgtatcctgacatcaCtttataaccagattttcctt	10	15	3	13	0	1	2	1	1	0	1	3	2	3	2	4	0	1	1	4	0	3	7			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:42930494C>T	ENST00000244289.4	-	1	1084	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	270					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)				CCTGACATCACTTTATAACCA	0.488													34	161					0	0	0	0	T	42930494	C	T	42930494	3	4	207	1	0	0	0	0	1	0	0	0	8876	565	20	4	2462	4	LIPE	19	42930494	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	5800896	42930494	16198489	119	36943											
TRAPPC6A	79090	broad.mit.edu	37	chr19	45681404	45681404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgctcacccccgggccggGgtcggggtcgtgagcccaca	4	4	17	16	5	1	1	1	1	0	0	3	1	1	1	4	6	1	1	4	6	0	0			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:45681404G>T	ENST00000006275.4	-	1	91	c.73C>A	c.(73-75)Ccc>Acc	p.P25T	TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.P25T|TRAPPC6A_ENST00000585934.1_Missense_Mutation_p.P25T|TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.P25T	NM_024108.1	NP_077013.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	25					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		CCCGGGCCGGGGTCGGGGTCG	0.677													17	86					9.16793e-09	1.00208e-08	1	0	T	45681404	G	T	45681404	3	4	207	1	0	0	0	0	1	0	0	0	16558	1232	43	4	472	4	TRAPPC6A	19	45681404	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	2750910	45681404	13447579	120	36944											
SNRPD2	6633	broad.mit.edu	37	chr19	46191786	46191786	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcgcttctgcagctccTctggggtcatctcactcttg	3	14	8	16	1	6	0	2	0	5	0	9	0	7	0	2	2	2	3	2	2	0	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:46191786T>G	ENST00000342669.3	-	2	485	c.41A>C	c.(40-42)gAg>gCg	p.E14A	SNRPD2_ENST00000588599.1_Missense_Mutation_p.E4A|SNRPD2_ENST00000587367.1_Missense_Mutation_p.E4A|SNRPD2_ENST00000585392.1_Intron|SNRPD2_ENST00000391932.3_Missense_Mutation_p.E4A|SNRPD2_ENST00000588301.1_Missense_Mutation_p.E14A|SNRPD2_ENST00000590212.1_Missense_Mutation_p.E14A	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	14					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CTGCAGCTCCTCTGGGGTCAT	0.532													25	188					0	0	0	0	G	46191786	T	G	46191786	3	3	207	1	0	0	0	0	1	0	0	0	14953	1551	54	5	323	5	SNRPD2	19	46191786	Missense_Mutation	SNP	T	TCGA-CR-7383-01A-11D-2129-08	510382	46191786	12937197	121	36945											
ZNF880	400713	broad.mit.edu	37	chr19	52888227	52888227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactggagagaaaccttacaGatgtgatgaatgtggcaagg	14	9	13	5	0	0	4	0	2	0	2	0	6	0	5	1	3	3	1	1	3	5	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:52888227G>A	ENST00000422689.2	+	4	1409	c.1394G>A	c.(1393-1395)aGa>aAa	p.R465K		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	465					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AAACCTTACAGATGTGATGAA	0.398													4	15					0	0	0	0	A	52888227	G	A	52888227	3	1	207	1	0	0	0	0	1	0	0	0	18290	942	33	2	1408	2	ZNF880	19	52888227	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	6696441	52888227	6240756	122	36946											
LILRA4	23547	broad.mit.edu	37	chr19	54848719	54848719	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggccgaccactcggaggAgacgttgtgtgcgccgtagc	6	6	18	11	5	0	1	0	0	0	1	1	4	0	2	3	4	2	2	3	4	1	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:54848719A>G	ENST00000291759.4	-	5	960	c.904T>C	c.(904-906)Tcc>Ccc	p.S302P		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	302	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CACTCGGAGGAGACGTTGTGT	0.682													20	78					0	0	0	0	G	54848719	A	G	54848719	3	3	207	1	0	0	0	0	1	0	0	0	8841	304	11	5	611	5	LILRA4	19	54848719	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08	1960492	54848719	4280264	123	36947											
MATN4	8785	broad.mit.edu	37	chr20	43926821	43926822	+	Frame_Shift_Del	DEL	GC	GC	-																															caagcccaccttcctccttgGcgcgcgctgcccacaccgag																										TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr20:43926821_43926822delGC	ENST00000537548.1	-	8	1658_1659	c.1414_1415delGC	c.(1414-1416)cfs	p.A472fs	MATN4_ENST00000342716.4_Frame_Shift_Del_p.A472fs|MATN4_ENST00000353917.5_Frame_Shift_Del_p.A390fs|MATN4_ENST00000372753.1_Frame_Shift_Del_p.A323fs|MATN4_ENST00000360607.5_Frame_Shift_Del_p.A431fs|MATN4_ENST00000372751.4_Frame_Shift_Del_p.A323fs|MATN4_ENST00000372756.1_Frame_Shift_Del_p.A472fs|MATN4_ENST00000372754.1_Frame_Shift_Del_p.A513fs			O95460	MATN4_HUMAN	matrilin 4	513	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TTCCTCCTTGGCGCGCGCTGCC	0.683													21	165	---	---	---	---					-	43926822	GC	-	43926821	7	5	207	1	0	1	0	1	0	0	0	0	9405	1203	42	0	346	0	MATN4	20	43926821	Frame_Shift_Del	DEL	GC	TCGA-CR-7383-01A-11D-2129-08		43926821	19098699	124	36948											
RTEL1	51750	broad.mit.edu	37	chr20	62326202	62326202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcccgcagggccctggggtCcgcgggctgtagccaactct	4	7	15	15	3	1	0	0	0	1	0	2	0	2	0	4	4	3	3	4	4	2	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr20:62326202C>T	ENST00000318100.4	+	32	4045	c.3218C>T	c.(3217-3219)tCc>tTc	p.S1073F	RTEL1_ENST00000370003.1_Missense_Mutation_p.S318F|RTEL1_ENST00000370018.3_Missense_Mutation_p.S1073F|RTEL1_ENST00000508582.2_Missense_Mutation_p.S1097F|RTEL1_ENST00000360203.5_Missense_Mutation_p.S1073F|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S1073F			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	1073					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCCCTGGGGTCCGCGGGCTGT	0.662													24	148					0	0	0	0	T	62326202	C	T	62326202	3	4	207	1	0	0	0	0	1	0	0	0	13805	855	30	2	3340	2	RTEL1	20	62326202	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08	18399381	62326202	699318	125	36949											
CHAF1B	8208	broad.mit.edu	37	chr21	37788586	37788586	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcagagacgcctggagaCgctcagggcagtcccccaga	9	5	14	13	2	1	3	1	0	0	3	2	5	2	3	3	2	1	4	3	2	0	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr21:37788586C>T	ENST00000314103.4	+	14	1753	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	534					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CGCCTGGAGACGCTCAGGGCA	0.507													9	62					0	0	0	0	T	37788586	C	T	37788586	2	4	207	1	0	0	0	0	0	0	0	1	3341	535	19	1		1	CHAF1B	21	37788586	Silent	SNP	C	TCGA-CR-7383-01A-11D-2129-08		37788586	10341309	126	36950											
BRWD1	54014	broad.mit.edu	37	chr21	40650700	40650700	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacaaagcatttgaacGcctggcctaggcttttcagt	12	10	10	9	1	1	2	1	1	0	1	1	3	1	2	2	2	3	2	2	2	5	4			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr21:40650700G>A	ENST00000342449.3	-	10	1050	c.972C>T	c.(970-972)ggC>ggT	p.G324G	BRWD1_ENST00000380800.3_Silent_p.G324G|BRWD1_ENST00000333229.2_Silent_p.G324G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCATTTGAACGCCTGGCCTAG	0.333													42	115					0	0	0	0	A	40650700	G	A	40650700	2	1	207	1	0	0	0	0	0	0	0	1	1533	1074	38	1		1	BRWD1	21	40650700	Silent	SNP	G	TCGA-CR-7383-01A-11D-2129-08	2862114	40650700	7479195	127	36951											
LRRC3	81543	broad.mit.edu	37	chr21	45877295	45877295	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggaccccatcggcccgggGccctagcgcctgttccggca	6	5	13	17	4	0	0	0	0	0	0	2	1	1	1	6	5	1	2	6	5	2	2			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr21:45877295G>T	ENST00000291592.4	+	2	1085	c.768G>T	c.(766-768)ggG>ggT	p.G256G		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	256						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCGGCCCGGGGCCCTAGCGCC	0.637													6	94					5.18039e-06	5.56522e-06	1	0	T	45877295	G	T	45877295	2	4	207	1	0	0	0	0	0	0	0	1	9048	1190	42	4		4	LRRC3	21	45877295	Silent	SNP	G	TCGA-CR-7383-01A-11D-2129-08	5226595	45877295	2252600	128	36952											
PCBP3	54039	broad.mit.edu	37	chr21	47333995	47333995	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagccttttactgcagcAcccgccgctgcccgttagtg	5	10	9	17	3	1	0	1	0	0	0	1	0	1	0	5	0	5	4	5	0	2	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr21:47333995A>C	ENST00000400304.1	+	7	635	c.635A>C	c.(634-636)cAc>cCc	p.H212P	PCBP3_ENST00000468429.1_Intron|PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000400309.1_Intron|PCBP3_ENST00000400314.1_Intron			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	225					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TTACTGCAGCACCCGCCGCTG	0.627													15	35					0	0	0	0	C	47333995	A	C	47333995	3	2	207	1	0	0	0	0	1	0	0	0	11573	174	6	5		5	PCBP3	21	47333995	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08	1456700	47333995	795900	129	36953											
DGCR8	54487	broad.mit.edu	37	chr22	20074734	20074734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctggaagaaggcctttgtgCccccaaaaagaggcgaacag	13	5	13	10	1	0	2	0	0	0	2	0	4	0	3	3	3	2	1	3	3	5	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr22:20074734C>T	ENST00000351989.3	+	3	1199	c.770C>T	c.(769-771)gCc>gTc	p.A257V	DGCR8_ENST00000383024.2_Missense_Mutation_p.A257V|DGCR8_ENST00000407755.1_Missense_Mutation_p.A257V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	257	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGCCTTTGTGCCCCCAAAAAG	0.527													5	229					0	0	0	0	T	20074734	C	T	20074734	3	4	207	1	0	0	0	0	1	0	0	0	4501	739	26	4	776	4	DGCR8	22	20074734	Missense_Mutation	SNP	C	TCGA-CR-7383-01A-11D-2129-08		20074734	31229832	130	36954											
KLHL22	84861	broad.mit.edu	37	chr22	20843369	20843369	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggattccgctgtcccGgagagccagcagccctcgga	9	5	14	13	3	0	2	0	0	0	2	3	6	2	4	4	3	3	2	4	3	1	1			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr22:20843369G>T	ENST00000328879.4	-	2	286	c.130C>A	c.(130-132)Cgg>Agg	p.R44R	KLHL22_ENST00000440659.2_5'UTR|KLHL22_ENST00000470335.1_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	44					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCGCTGTCCCGGAGAGCCAGC	0.622													4	157					0.00909568	0.00929341	1	0	T	20843369	G	T	20843369	2	4	207	1	0	0	0	0	0	0	0	1	8429	1115	39	3		3	KLHL22	22	20843369	Silent	SNP	G	TCGA-CR-7383-01A-11D-2129-08	768635	20843369	30461197	131	36955											
RTDR1	27156	broad.mit.edu	37	chr22	23406115	23406115	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcacgggcggccttgctgcgGatgttctggttggcgctgag	3	10	18	10	4	1	1	0	1	1	0	1	2	1	2	1	5	2	5	1	5	0	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr22:23406115G>A	ENST00000216036.4	-	5	814	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	206							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCTTGCTGCGGATGTTCTGGT	0.622													12	136					0	0	0	0	A	23406115	G	A	23406115	2	1	207	1	0	0	0	0	0	0	0	1	13804	1164	41	2		2	RTDR1	22	23406115	Silent	SNP	G	TCGA-CR-7383-01A-11D-2129-08	2562746	23406115	27898451	132	36956											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													4	193					0	0	0	0	G	37028425	A	G	37028425	3	3	207	1	0	0	0	0	1	0	0	0	5618	130	5	5	1944	5	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08		37028425	118242135	133	36957											
OPHN1	4983	broad.mit.edu	37	chrX	67433776	67433777	+	Frame_Shift_Ins	INS	-	-	A																															cataatcaagagaggactcgINSaaaaaattgtgcctctcctt																										TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:67433776_67433777insA	ENST00000355520.5	-	7	1165_1166	c.524_525insT	c.(523-525)tgafs	p.*175fs	OPHN1_ENST00000540071.1_Frame_Shift_Ins_p.*175fs	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	175					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GAGAGGACTCGAAAAAATTGTG	0.381													8	49	---	---	---	---					A	67433777	-	A	67433776	7	5	207	1	0	1	1	0	0	0	0	0	10946	1049	37	0	1955	0	OPHN1	23	67433776	Frame_Shift_Ins	INS	-	TCGA-CR-7383-01A-11D-2129-08	30405351	67433776	87836784	134	36958											
POF1B	79983	broad.mit.edu	37	chrX	84585990	84585990	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaatgttctaataagcaGtgatatagatccgtattctt	13	15	7	6	1	2	2	0	1	2	1	3	2	3	2	1	0	2	4	1	0	6	8			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:84585990G>A	ENST00000262753.4	-	7	964	c.819C>T	c.(817-819)caC>caT	p.H273H	POF1B_ENST00000373145.3_Silent_p.H273H	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	273							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTAATAAGCAGTGATATAGAT	0.378													36	99					0	0	0	0	A	84585990	G	A	84585990	2	1	207	1	0	0	0	0	0	0	0	1	12254	1020	36	4		4	POF1B	23	84585990	Silent	SNP	G	TCGA-CR-7383-01A-11D-2129-08	17152214	84585990	70684570	135	36959											
TNMD	64102	broad.mit.edu	37	chrX	99852545	99852545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgaacagtcagtgatttgGgtcccagcagaaaagcctat	12	11	10	8	0	1	3	1	2	0	1	2	3	2	3	2	1	3	1	2	1	4	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:99852545G>C	ENST00000373031.4	+	5	685	c.468G>C	c.(466-468)tgG>tgC	p.W156C		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	156	BRICHOS.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CAGTGATTTGGGTCCCAGCAG	0.373													19	166					0	0	0	0	C	99852545	G	C	99852545	3	2	207	1	0	0	0	0	1	0	0	0	16416	1241	43	4	486	4	TNMD	23	99852545	Missense_Mutation	SNP	G	TCGA-CR-7383-01A-11D-2129-08	15266555	99852545	55418015	136	36960											
XKRX	402415	broad.mit.edu	37	chrX	100177997	100177997	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctgacatagggctccTcctgctcctctttcttccac	5	13	8	15	0	2	2	0	2	2	0	6	2	6	2	4	2	1	3	4	2	1	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:100177997T>A	ENST00000328526.5	-	2	993	c.428A>T	c.(427-429)gAg>gTg	p.E143V	XKRX_ENST00000372956.2_Missense_Mutation_p.E130V|XKRX_ENST00000468904.1_Intron	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	130						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						ATAGGGCTCCTCCTGCTCCTC	0.507													146	255					0	0	0	0	A	100177997	T	A	100177997	3	1	207	1	0	0	0	0	1	0	0	0	17535	1551	54	5	968	5	XKRX	23	100177997	Missense_Mutation	SNP	T	TCGA-CR-7383-01A-11D-2129-08	325452	100177997	55092563	137	36961											
TCEAL2	140597	broad.mit.edu	37	chrX	101382142	101382142	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgaaagagagccagagAgtgagggagagccagaaagt	17	3	16	5	0	0	6	0	2	0	4	0	9	0	6	2	1	2	0	2	1	2	0			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:101382142A>T	ENST00000372780.1	+	3	559	c.340A>T	c.(340-342)Agt>Tgt	p.S114C	TCEAL2_ENST00000329035.2_Missense_Mutation_p.S114C	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						agagccagagagtgagggaga	0.537													51	101					0	0	0	0	T	101382142	A	T	101382142	3	4	207	1	0	0	0	0	1	0	0	0	15765	304	11	5	342	5	TCEAL2	23	101382142	Missense_Mutation	SNP	A	TCGA-CR-7383-01A-11D-2129-08	1204145	101382142	53888418	138	36962											
BHLHB9	80823	broad.mit.edu	37	chrX	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-																															gcaaacctaggtcaggggctGaggaggaggaggaagagaat																										TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)del	p.E171del	BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													15	549	---	---	---	---					-	102004421	GAG	-	102004419	7	5	207	1	0	1	0	1	0	0	0	0	1425	1291	45	0	498	0	BHLHB9	23	102004419	In_Frame_Del	DEL	GAG	TCGA-CR-7383-01A-11D-2129-08	622277	102004419	53266141	139	36963											
COL4A5	1287	broad.mit.edu	37	chrX	107909817	107909817	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagctggacagaagggTgaaccaggtgctgtagtttt	10	9	15	7	0	0	2	0	1	0	1	0	4	0	4	2	4	3	4	2	4	3	3			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:107909817T>C	ENST00000328300.6	+	39	3790	c.3546T>C	c.(3544-3546)ggT>ggC	p.G1182G	COL4A5_ENST00000361603.2_Silent_p.G1182G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1182	Triple-helical region.		G -> R (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GACAGAAGGGTGAACCAGGTG	0.428									Alport syndrome with Diffuse Leiomyomatosis				13	28					0	0	0	0	C	107909817	T	C	107909817	2	2	207	1	0	0	0	0	0	0	0	1	3724	1683	59	5		5	COL4A5	23	107909817	Silent	SNP	T	TCGA-CR-7383-01A-11D-2129-08	5905398	107909817	47360743	140	36964											
FAM58A	92002	broad.mit.edu	37	chrX	152864477	152864478	+	Splice_Site	INS	-	-	C																															ctggcttcgggcgccggctgINSccctccgggccccgcgctgc																										TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:152864477_152864478insC	ENST00000406277.2	-	2	152_153	c.51_splice	c.e2+1	p.A17_splice	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	18					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCCGGCTGCCCTCCGGGCC	0.782													7	8	---	---	---	---					C	152864478	-	C	152864477	8	5	207	1	0	1	1	0	0	0	1	0	5636	1319	46	0	711	0	FAM58A	23	152864477	Splice_Site	INS	-	TCGA-CR-7383-01A-11D-2129-08	44954660	152864477	2406083	141	36965											
MACF1	23499	broad.mit.edu	37	chr1	39903546	39903546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgaagtagacaagatcaGagagtgcatcagtgacaata	16	8	11	6	0	2	5	2	2	0	3	2	6	2	5	0	0	2	3	0	0	5	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:39903546G>C	ENST00000564288.1	+	71	18863	c.18086G>C	c.(18085-18087)aGa>aCa	p.R6029T	MACF1_ENST00000289893.4_Missense_Mutation_p.R4472T|MACF1_ENST00000567887.1_Missense_Mutation_p.R6066T|MACF1_ENST00000317713.7_Missense_Mutation_p.R3970T|MACF1_ENST00000361689.2_Missense_Mutation_p.R3970T|MACF1_ENST00000539005.1_Missense_Mutation_p.R3840T|MACF1_ENST00000545844.1_Missense_Mutation_p.R3970T|MACF1_ENST00000372915.3_Missense_Mutation_p.R5928T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6041					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACAAGATCAGAGAGTGCATC	0.488													3	134					0	0	0	0	C	39903546	G	C	39903546	3	2	208	1	0	0	0	0	1	0	0	0	9209	942	33	2	18326	2	MACF1	1	39903546	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08		39903546	209347075	1	36966											
RAVER2	55225	broad.mit.edu	37	chr1	65243359	65243359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaacgcaattcagatgtttCatcaatattcttttagagga	14	14	7	6	1	4	3	3	0	1	3	4	4	4	4	0	1	1	2	0	1	5	6			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:65243359C>G	ENST00000294428.3	+	3	448	c.370C>G	c.(370-372)Cat>Gat	p.H124D	RAVER2_ENST00000371072.4_Missense_Mutation_p.H124D			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	124	RRM 1.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TCAGATGTTTCATCAATATTC	0.348													3	111					0	0	0	0	G	65243359	C	G	65243359	3	3	208	1	0	0	0	0	1	0	0	0	13177	826	29	2	380	2	RAVER2	1	65243359	Missense_Mutation	SNP	C	TCGA-CR-7385-01A-11D-2012-08	25339813	65243359	184007262	2	36967											
FCGR1A	2209	broad.mit.edu	37	chr1	149761632	149761632	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatttccagctccagtgctGaatgcatctgtgacatcccc	8	12	7	14	0	1	2	0	2	1	0	4	2	4	2	4	0	3	3	4	0	2	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:149761632G>A	ENST00000369168.4	+	5	636	c.582G>A	c.(580-582)ctG>ctA	p.L194L	HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	194	Ig-like C2-type 3.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCCAGTGCTGAATGCATCTG	0.498													5	65					0	0	0	0	A	149761632	G	A	149761632	2	1	208	1	0	0	0	0	0	0	0	1	5824	1277	45	2		2	FCGR1A	1	149761632	Silent	SNP	G	TCGA-CR-7385-01A-11D-2012-08	84518273	149761632	99488989	3	36968											
HRNR	388697	broad.mit.edu	37	chr1	152191393	152191393	+	Silent	SNP	G	G	T																															gacccatgtcggccatagctGggagactgccctgacccaga																										TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:152191393G>T	ENST00000368801.2	-	3	2787	c.2712C>A	c.(2710-2712)ccC>ccA	p.P904P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	904					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCATAGCTGGGAGACTGCC	0.647													30	175					3.99451e-17	6.40809e-16	1	0	T	152191393	G	T	152191393	2	4	208	1	0	0	0	0	0	0	0	1	7409	1335	47	4		4	HRNR	1	152191393	Silent	SNP	G	TCGA-CR-7385-01A-11D-2012-08	2429761	152191393	97059228	4	36969	287	2									
HRNR	388697	broad.mit.edu	37	chr1	152191395	152191395	+	Missense_Mutation	SNP	G	G	C																															cccatgtcggccatagctggGagactgccctgacccagacc																										TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:152191395G>C	ENST00000368801.2	-	3	2785	c.2710C>G	c.(2710-2712)Ccc>Gcc	p.P904A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	904					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATAGCTGGGAGACTGCCCT	0.647													27	171					0	0	0	0	C	152191395	G	C	152191395	3	2	208	1	0	0	0	0	1	0	0	0	7409	1174	41	2	5846	2	HRNR	1	152191395	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08	2	152191395	97059226	5	36970	287	2									
ZBTB7B	51043	broad.mit.edu	37	chr1	154987971	154987971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctatgagggtgaggaagaaGaagaggagctggtatatccc	13	7	15	6	0	0	5	0	2	0	3	1	7	1	7	2	4	1	2	2	4	6	3			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:154987971G>A	ENST00000368426.3	+	3	972	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E279K|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E313K|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E279K	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	279					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGAGGAAGAAGAAGAGGAGCT	0.657													6	29					0	0	0	0	A	154987971	G	A	154987971	3	1	208	1	0	0	0	0	1	0	0	0	17649	943	33	2	837	2	ZBTB7B	1	154987971	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08	2796576	154987971	94262650	6	36971											
PPFIA4	8497	broad.mit.edu	37	chr1	203017400	203017400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggagcacctgcggcagctgGagggacagctggaggagaag	11	3	19	8	1	0	1	0	0	0	1	0	6	0	5	1	6	4	4	1	6	1	0			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:203017400G>A	ENST00000367240.2	+	10	1713	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	PPFIA4_ENST00000414050.2_Missense_Mutation_p.E103K|PPFIA4_ENST00000447715.2_Missense_Mutation_p.E396K|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	93	SAM 1.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GCGGCAGCTGGAGGGACAGCT	0.672													6	36					0	0	0	0	A	203017400	G	A	203017400	3	1	208	1	0	0	0	0	1	0	0	0	12383	1189	41	2		2	PPFIA4	1	203017400	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08	48029429	203017400	46233221	7	36972											
TRAF5	7188	broad.mit.edu	37	chr1	211545470	211545470	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttttttttcttatttgcagCcgttttagaagaggaaacta	10	19	7	5	1	1	2	0	0	1	2	1	3	1	3	1	1	3	2	1	1	5	9			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:211545470C>A	ENST00000336184.2	+	11	1160	c.1099_splice	c.e11-1	p.A367_splice	TRAF5_ENST00000427925.2_Splice_Site_p.A261_splice|TRAF5_ENST00000261464.5_Splice_Site_p.A367_splice|TRAF5_ENST00000367004.3_Splice_Site_p.A367_splice	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	367					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TTATTTGCAGCCGTTTTAGAA	0.318													17	52					3.41278e-10	5.39883e-09	1	0	A	211545470	C	A	211545470	5	1	208	1	0	0	0	0	0	0	1	0	16539	753	26	4	1138	4	TRAF5	1	211545470	Splice_Site	SNP	C	TCGA-CR-7385-01A-11D-2012-08	8528070	211545470	37705151	8	36973											
SMYD2	56950	broad.mit.edu	37	chr1	214478569	214478569	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaagatgcaagcaggcAttttactgcaatgtggagtg	11	11	14	5	0	0	1	0	0	0	1	0	3	0	3	0	3	4	4	0	3	4	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr1:214478569A>C	ENST00000366957.5	+	2	235	c.213A>C	c.(211-213)gcA>gcC	p.A71A	SMYD2_ENST00000415093.2_Silent_p.A71A|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	71					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		GCAAGCAGGCATTTTACTGCA	0.473													32	109					0	0	0	0	C	214478569	A	C	214478569	2	2	208	1	0	0	0	0	0	0	0	1	14910	204	8	5		5	SMYD2	1	214478569	Silent	SNP	A	TCGA-CR-7385-01A-11D-2012-08	2933099	214478569	34772052	9	36974											
SCN2A	6326	broad.mit.edu	37	chr2	166170610	166170610	+	Frame_Shift_Del	DEL	G	G	-																															agttgaaaaagcaacaagaaGaagctcaggtatagtgaaca																										TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr2:166170610delG	ENST00000375437.2	+	10	1665	c.1375delG	c.(1375-1377)aafs	p.E459fs	SCN2A_ENST00000357398.3_Frame_Shift_Del_p.E459fs|SCN2A_ENST00000283256.6_Frame_Shift_Del_p.E459fs|SCN2A_ENST00000375427.2_Frame_Shift_Del_p.E459fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	459					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCAACAAGAAGAAGCTCAGGT	0.408													7	31	---	---	---	---					-	166170610	G	-	166170610	7	5	208	1	0	1	0	1	0	0	0	0	14003	943	33	0	1505	0	SCN2A	2	166170610	Frame_Shift_Del	DEL	G	TCGA-CR-7385-01A-11D-2012-08		166170610	77028763	10	36975											
ABCA12	26154	broad.mit.edu	37	chr2	216002861	216002861	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacacttttttttaactcAccggctgcctttttacacct	7	16	3	15	1	1	0	1	0	0	0	1	0	1	0	4	1	3	1	4	1	2	7			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr2:216002861A>T	ENST00000272895.7	-	1	289		c.e1+1		ABCA12_ENST00000412081.1_Splice_Site	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTTAACTCACCGGCTGCCT	0.428													130	144					0	0	0	0	T	216002861	A	T	216002861	5	4	208	1	0	0	0	0	0	0	1	0	30	173	6	5	7959	5	ABCA12	2	216002861	Splice_Site	SNP	A	TCGA-CR-7385-01A-11D-2012-08	49832251	216002861	27196512	11	36976											
CHRND	1144	broad.mit.edu	37	chr2	233393036	233393036	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatcagtgtcctgcgccTccccccggacatggtgtggc	7	8	11	15	2	1	0	1	0	0	0	3	1	3	1	5	3	2	0	5	3	1	0			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr2:233393036T>C	ENST00000258385.3	+	4	340	c.308T>C	c.(307-309)cTc>cCc	p.L103P	CHRND_ENST00000543200.1_Missense_Mutation_p.L88P|CHRND_ENST00000457943.2_Missense_Mutation_p.S13P|CHRND_ENST00000536614.1_Missense_Mutation_p.L103P	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	103					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GTCCTGCGCCTCCCCCCGGAC	0.567													3	56					0	0	0	0	C	233393036	T	C	233393036	3	2	208	1	0	0	0	0	1	0	0	0	3423	1551	54	5	322	5	CHRND	2	233393036	Missense_Mutation	SNP	T	TCGA-CR-7385-01A-11D-2012-08	17390175	233393036	9806337	12	36977											
MTMR14	64419	broad.mit.edu	37	chr3	9726305	9726305	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtacactgtatctcaggctGggatcggacccccctcttca	7	10	10	14	1	3	0	2	0	2	0	5	2	3	2	3	4	1	3	3	4	2	3			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr3:9726305G>C	ENST00000296003.4	+	11	1123	c.1001G>C	c.(1000-1002)tGg>tCg	p.W334S	MTMR14_ENST00000351233.5_Missense_Mutation_p.W334S|MTMR14_ENST00000353332.5_Missense_Mutation_p.W334S|MTMR14_ENST00000420925.1_Missense_Mutation_p.W88S	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	334						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ATCTCAGGCTGGGATCGGACC	0.577													4	80					0	0	0	0	C	9726305	G	C	9726305	3	2	208	1	0	0	0	0	1	0	0	0	10012	1357	47	4	1043	4	MTMR14	3	9726305	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08		9726305	188296125	13	36978											
NKTR	4820	broad.mit.edu	37	chr3	42679772	42679772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgccctcattcaaaaaaaaGaactttgaaagagaatcttt	18	11	5	7	0	3	3	2	1	1	2	3	4	3	3	1	0	2	0	1	0	7	3			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr3:42679772G>A	ENST00000232978.8	+	13	2764	c.2576G>A	c.(2575-2577)aGa>aAa	p.R859K	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	859					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCAAAAAAAAGAACTTTGAAA	0.373													7	49					0	0	0	0	A	42679772	G	A	42679772	3	1	208	1	0	0	0	0	1	0	0	0	10518	942	33	2	2622	2	NKTR	3	42679772	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08	32953467	42679772	155342658	14	36979											
STAB1	23166	broad.mit.edu	37	chr3	52544478	52544478	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagctggacatgagaggTggctgccacaccgatgccct	8	8	14	11	1	0	2	0	2	0	1	0	5	0	3	3	3	3	2	3	3	0	0			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr3:52544478T>C	ENST00000321725.6	+	25	2818	c.2742T>C	c.(2740-2742)ggT>ggC	p.G914G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	914	EGF-like 8.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACATGAGAGGTGGCTGCCACA	0.647													16	33					0	0	0	0	C	52544478	T	C	52544478	2	2	208	1	0	0	0	0	0	0	0	1	15327	1683	59	5		5	STAB1	3	52544478	Silent	SNP	T	TCGA-CR-7385-01A-11D-2012-08	9864706	52544478	145477952	15	36980											
PEX5L	51555	broad.mit.edu	37	chr3	179525565	179525565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataggcctccacggcttcctCgctgcggtctccgttcgcca	4	10	10	17	5	1	0	0	0	1	0	6	0	3	0	5	3	1	3	5	3	1	3			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr3:179525565C>T	ENST00000467460.1	-	14	1903	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	PEX5L_ENST00000476138.1_Missense_Mutation_p.E482K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E466K|PEX5L_ENST00000468741.1_Missense_Mutation_p.E333K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.E501K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E417K|PEX5L_ENST00000392649.3_Missense_Mutation_p.E417K|PEX5L_ENST00000263962.8_Missense_Mutation_p.E523K|PEX5L_ENST00000485199.1_Missense_Mutation_p.E490K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	525					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ACGGCTTCCTCGCTGCGGTCT	0.537													28	227					0	0	0	0	T	179525565	C	T	179525565	3	4	208	1	0	0	0	0	1	0	0	0	11821	893	31	1	315	1	PEX5L	3	179525565	Missense_Mutation	SNP	C	TCGA-CR-7385-01A-11D-2012-08	126981087	179525565	18496865	16	36981											
AMBN	258	broad.mit.edu	37	chr4	71467197	71467197	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagccatccttgaagcctcaAcagccaggactgaaaccttt	12	8	7	14	0	1	2	1	2	0	0	2	3	2	3	5	1	5	0	5	1	3	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr4:71467197A>G	ENST00000322937.6	+	6	460	c.357A>G	c.(355-357)caA>caG	p.Q119Q	AMBN_ENST00000449493.2_Silent_p.Q104Q	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	119					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGAAGCCTCAACAGCCAGGAC	0.502											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	146					0	0	0	0	G	71467197	A	G	71467197	2	3	208	1	0	0	0	0	0	0	0	1	563	40	2	5		5	AMBN	4	71467197	Silent	SNP	A	TCGA-CR-7385-01A-11D-2012-08		71467197	119687079	17	36982											
GPX8	493869	broad.mit.edu	37	chr5	54456872	54456872	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccaactcacagacagaaaTtacttagggctgaaggaact	15	8	9	9	0	1	3	1	1	0	2	1	4	1	4	1	2	4	1	1	2	6	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr5:54456872T>G	ENST00000503787.1	+	2	330	c.255T>G	c.(253-255)aaT>aaG	p.N85K	CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000296734.6_Intron|GPX8_ENST00000506123.1_3'UTR|GPX8_ENST00000515370.1_Missense_Mutation_p.N34K|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000296733.1_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	85					response to oxidative stress	integral to membrane	glutathione peroxidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	CAGACAGAAATTACTTAGGGC	0.463													13	35					0	0	0	0	G	54456872	T	G	54456872	3	3	208	1	0	0	0	0	1	0	0	0	6796	1490	52	5	261	5	GPX8	5	54456872	Missense_Mutation	SNP	T	TCGA-CR-7385-01A-11D-2012-08		54456872	126458388	18	36983											
AP3B1	8546	broad.mit.edu	37	chr5	77590312	77590312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaagaggccgaaggcccccGagggggaaatggttgaggtc	11	5	17	8	2	0	2	0	1	0	1	1	5	0	3	3	6	0	1	3	6	4	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr5:77590312G>A	ENST00000255194.6	-	1	267	c.92C>T	c.(91-93)tCg>tTg	p.S31L	AP3B1_ENST00000519295.1_5'UTR	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	31					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GAAGGCCCCCGAGGGGGAAAT	0.607									Hermansky-Pudlak syndrome				12	73					0	0	0	0	A	77590312	G	A	77590312	3	1	208	1	0	0	0	0	1	0	0	0	745	1059	37	1	3300	1	AP3B1	5	77590312	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08	23133440	77590312	103324948	19	36984											
BRD8	10902	broad.mit.edu	37	chr5	137500599	137500599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgactggctctggttctgcaGgttccaccttgatctctgca	5	14	10	12	0	3	2	0	2	3	0	5	2	4	2	2	3	2	5	2	3	0	3			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr5:137500599G>A	ENST00000254900.5	-	12	1906	c.1535C>T	c.(1534-1536)cCt>cTt	p.P512L	BRD8_ENST00000230901.5_Missense_Mutation_p.P585L|BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000411594.2_Missense_Mutation_p.P515L|BRD8_ENST00000455658.2_Missense_Mutation_p.P471L|BRD8_ENST00000402931.1_Missense_Mutation_p.P512L	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	512					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGTTCTGCAGGTTCCACCTT	0.502													6	122					0	0	0	0	A	137500599	G	A	137500599	3	1	208	1	0	0	0	0	1	0	0	0	1514	1000	35	4	2300	4	BRD8	5	137500599	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08	59910287	137500599	43414661	20	36985											
FAM53C	51307	broad.mit.edu	37	chr5	137680937	137680937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaatgtgccccagctcacaGaccctacagccctcctttct	8	10	5	18	0	3	1	2	0	1	1	4	1	4	1	5	0	4	1	5	0	2	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr5:137680937G>A	ENST00000239906.5	+	4	988	c.560G>A	c.(559-561)aGa>aAa	p.R187K	FAM53C_ENST00000434981.2_Missense_Mutation_p.R187K|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	187										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCTCACAGACCCTACAGC	0.642													43	213					0	0	0	0	A	137680937	G	A	137680937	3	1	208	1	0	0	0	0	1	0	0	0	5628	942	33	2	570	2	FAM53C	5	137680937	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08	180338	137680937	43234323	21	36986											
NSD1	64324	broad.mit.edu	37	chr5	176687121	176687121	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacccctaggcggggctgcCgaaatcatgagcatgttaat	10	10	11	10	2	1	1	1	1	0	0	1	2	1	1	3	3	3	3	3	3	4	3			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr5:176687121C>T	ENST00000439151.2	+	14	5143	c.5098C>T	c.(5098-5100)Cga>Tga	p.R1700*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1597*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1431*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1431*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1700					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCGGGGCTGCCGAAATCATGA	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			5	59					0	0	0	0	T	176687121	C	T	176687121	4	4	208	1	0	0	0	0	0	1	0	0	10740	644	23	1	5148	1	NSD1	5	176687121	Nonsense_Mutation	SNP	C	TCGA-CR-7385-01A-11D-2012-08	39006184	176687121	4228139	22	36987											
HIST1H2AB	8335	broad.mit.edu	37	chr6	26033429	26033429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccttggccttatgatggCtctcagttttcttaggcagc	5	16	9	11	0	2	1	1	1	2	0	4	1	3	1	2	3	1	3	2	3	2	6			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:26033429C>G	ENST00000259791.2	-	1	367	c.368G>C	c.(367-369)aGc>aCc	p.S123T		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	123					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CTTATGATGGCTCTCAGTTTT	0.478													9	68					0	0	0	0	G	26033429	C	G	26033429	3	3	208	1	0	0	0	0	1	0	0	0	7179	797	28	4	28	4	HIST1H2AB	6	26033429	Missense_Mutation	SNP	C	TCGA-CR-7385-01A-11D-2012-08		26033429	145081638	23	36988											
ZNF76	7629	broad.mit.edu	37	chr6	35262305	35262305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcttcgtcatcaacaggtgGcactgttggccacagccaac	9	9	9	14	1	3	0	2	0	1	0	4	0	3	0	2	3	3	2	2	3	2	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:35262305G>A	ENST00000373953.3	+	13	1833	c.1567G>A	c.(1567-1569)Gca>Aca	p.A523T	ZNF76_ENST00000339411.5_Missense_Mutation_p.A468T|ZNF76_ENST00000440666.2_Missense_Mutation_p.A497T	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	523					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TCAACAGGTGGCACTGTTGGC	0.517											OREG0017373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	56					0	0	0	0	A	35262305	G	A	35262305	3	1	208	1	0	0	0	0	1	0	0	0	18229	1203	42	4	1613	4	ZNF76	6	35262305	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08	9228876	35262305	135852762	24	36989											
PRPH2	5961	broad.mit.edu	37	chr6	42689524	42689524	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggaaaagtccaggtaGcgattgctgatccactgaat	12	10	12	7	1	0	2	0	2	0	0	2	5	2	4	2	3	2	2	2	3	4	3			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:42689524G>A	ENST00000230381.5	-	1	788	c.549C>T	c.(547-549)cgC>cgT	p.R183R		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	183					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			AGTCCAGGTAGCGATTGCTGA	0.493													18	141					0	0	0	0	A	42689524	G	A	42689524	2	1	208	1	0	0	0	0	0	0	0	1	12657	958	34	4		4	PRPH2	6	42689524	Silent	SNP	G	TCGA-CR-7385-01A-11D-2012-08	7427219	42689524	128425543	25	36990											
TJAP1	93643	broad.mit.edu	37	chr6	43472753	43472753	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatccagccagtcccccGgcccctggcagccccacccc	5	4	10	22	1	0	1	0	1	0	0	2	1	2	1	10	3	2	1	10	3	0	0			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:43472753G>A	ENST00000372444.2	+	11	1237	c.804G>A	c.(802-804)ccG>ccA	p.P268P	TJAP1_ENST00000436109.2_Silent_p.P268P|TJAP1_ENST00000372445.5_Silent_p.P278P|TJAP1_ENST00000372449.1_Silent_p.P278P|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372452.1_Silent_p.P268P|TJAP1_ENST00000438588.2_Silent_p.P278P|TJAP1_ENST00000259751.1_Silent_p.P268P	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	278						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCAGTCCCCCGGCCCCTGGCA	0.657													9	52					0	0	0	0	A	43472753	G	A	43472753	2	1	208	1	0	0	0	0	0	0	0	1	16022	1103	39	1		1	TJAP1	6	43472753	Silent	SNP	G	TCGA-CR-7385-01A-11D-2012-08	783229	43472753	127642314	26	36991											
ECT2L	345930	broad.mit.edu	37	chr6	139167812	139167812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcccggattcctgcgtatGaggtagagtatgttatgagg	9	12	13	7	2	0	3	0	2	0	1	2	4	2	4	2	3	1	4	2	3	4	5			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:139167812G>A	ENST00000423192.1	+	7	1062	c.901G>A	c.(901-903)Gag>Aag	p.E301K	ECT2L_ENST00000541398.1_Missense_Mutation_p.E232K|ECT2L_ENST00000367682.2_Missense_Mutation_p.E301K			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	301					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTGCGTATGAGGTAGAGTA	0.398			"N, Splice, Mis"		ETP ALL								7	273					0	0	0	0	A	139167812	G	A	139167812	3	1	208	1	0	0	0	0	1	0	0	0	4938	1291	45	2	923	2	ECT2L	6	139167812	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08	95695059	139167812	31947255	27	36992											
AKAP12	9590	broad.mit.edu	37	chr6	151670504	151670504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagtggaagcttcagagaaGaaaaaggaacaagagccaga	20	3	13	5	0	1	4	1	0	0	4	1	8	1	6	1	2	3	1	1	2	7	1			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr6:151670504G>C	ENST00000402676.2	+	4	1218	c.978G>C	c.(976-978)aaG>aaC	p.K326N	AKAP12_ENST00000253332.1_Missense_Mutation_p.K326N|AKAP12_ENST00000359755.5_Missense_Mutation_p.K221N|AKAP12_ENST00000354675.6_Missense_Mutation_p.K228N	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	326	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CTTCAGAGAAGAAAAAGGAAC	0.507													10	45					0	0	0	0	C	151670504	G	C	151670504	3	2	208	1	0	0	0	0	1	0	0	0	448	933	33	2	1017	2	AKAP12	6	151670504	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08	12502692	151670504	19444563	28	36993											
LINGO2	158038	broad.mit.edu	37	chr9	27949880	27949880	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaaaggcaaggaagggtaCagtagacagattggtgttgg	13	10	15	3	0	0	2	0	0	0	2	0	3	0	3	0	5	1	4	0	5	6	6	rs148104069		TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr9:27949880C>A	ENST00000379992.2	-	6	1239	c.790G>T	c.(790-792)Gta>Tta	p.V264L	LINGO2_ENST00000308675.3_Missense_Mutation_p.V264L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	264						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGGAAGGGTACAGTAGACAGA	0.463													26	124					1.74197e-06	2.71796e-05	1	0	A	27949880	C	A	27949880	3	1	208	1	0	0	0	0	1	0	0	0	8870	478	17	4	1034	4	LINGO2	9	27949880	Missense_Mutation	SNP	C	TCGA-CR-7385-01A-11D-2012-08		27949880	113263551	29	36994											
GOLM1	51280	broad.mit.edu	37	chr9	88650358	88650358	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgctcagggccctccatctCtggattttcctggctcactg	4	13	9	15	1	3	0	2	0	1	0	7	1	5	1	3	3	0	2	3	3	0	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr9:88650358C>G	ENST00000388712.3	-	8	1108	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	GOLM1_ENST00000388711.3_Missense_Mutation_p.E314Q	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	314						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CCCTCCATCTCTGGATTTTCC	0.642											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	131					0	0	0	0	G	88650358	C	G	88650358	3	3	208	1	0	0	0	0	1	0	0	0	6615	922	32	2	277	2	GOLM1	9	88650358	Missense_Mutation	SNP	C	TCGA-CR-7385-01A-11D-2012-08	60700478	88650358	52563073	30	36995											
ASTN2	23245	broad.mit.edu	37	chr9	119382714	119382714	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggaactcatcagtgcactCttgaaggcctggacaaaaaa	15	8	9	9	0	3	1	2	1	1	0	3	3	3	3	1	3	2	1	1	3	6	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr9:119382714C>G	ENST00000313400.4	-	18	3181	c.3081G>C	c.(3079-3081)aaG>aaC	p.K1027N	ASTN2_ENST00000361477.3_Missense_Mutation_p.K79N|ASTN2_ENST00000373996.3_Missense_Mutation_p.K1023N|ASTN2_ENST00000288520.5_Missense_Mutation_p.K128N|ASTN2_ENST00000361209.2_Missense_Mutation_p.K976N|ASTN2_ENST00000358637.4_Missense_Mutation_p.K79N|ASTN2_ENST00000341734.4_Missense_Mutation_p.K79N			O75129	ASTN2_HUMAN	astrotactin 2	1027						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCAGTGCACTCTTGAAGGCCT	0.507													34	150					0	0	0	0	G	119382714	C	G	119382714	3	3	208	1	0	0	0	0	1	0	0	0	1069	912	32	2	1081	2	ASTN2	9	119382714	Missense_Mutation	SNP	C	TCGA-CR-7385-01A-11D-2012-08	30732356	119382714	21830717	31	36996											
CYP2C9	1559	broad.mit.edu	37	chr10	96708979	96708979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaagtaaaagaacaccaaGaatcaatggacatgaacaac	24	4	6	7	0	1	3	1	1	0	2	1	4	1	4	1	1	3	1	1	1	10	1			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr10:96708979G>A	ENST00000260682.6	+	5	769	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	253					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGAACACCAAGAATCAATGGA	0.333													6	45					0	0	0	0	A	96708979	G	A	96708979	3	1	208	1	0	0	0	0	1	0	0	0	4200	943	33	2	775	2	CYP2C9	10	96708979	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08		96708979	38825768	32	36997											
OR51L1	119682	broad.mit.edu	37	chr11	5021081	5021081	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcttcccccagtccttaAccctattgtctatagtgtca	7	16	4	14	0	4	0	1	0	3	0	6	0	6	0	4	0	1	0	4	0	4	7			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr11:5021081A>G	ENST00000321543.1	+	1	869	c.869A>G	c.(868-870)aAc>aGc	p.N290S		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	290					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)		CCAGTCCTTAACCCTATTGTC	0.458													5	43					0	0	0	0	G	5021081	A	G	5021081	3	3	208	1	0	0	0	0	1	0	0	0	11173	43	2	5	871	5	OR51L1	11	5021081	Missense_Mutation	SNP	A	TCGA-CR-7385-01A-11D-2012-08		5021081	129985435	33	36998											
UEVLD	55293	broad.mit.edu	37	chr11	18557990	18557992	+	In_Frame_Del	DEL	CTT	CTT	-																															ttgagaggtatgactcactaCttcttcttggccactccatg																										TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr11:18557990_18557992delCTT	ENST00000396197.3	-	10	1113_1115	c.1085_1087delAAG	c.(1084-1089)gta>g	p.EV362del	UEVLD_ENST00000535484.1_In_Frame_Del_p.EV324del|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000379387.4_In_Frame_Del_p.EV340del|UEVLD_ENST00000320750.6_In_Frame_Del_p.EV340del|UEVLD_ENST00000543987.1_In_Frame_Del_p.EV362del|UEVLD_ENST00000541984.1_Intron	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	362					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGACTCACTACTTCTTCTTGGCC	0.374													20	76	---	---	---	---					-	18557992	CTT	-	18557990	7	5	208	1	0	1	0	1	0	0	0	0	17029	565	20	0	340	0	UEVLD	11	18557990	In_Frame_Del	DEL	CTT	TCGA-CR-7385-01A-11D-2012-08	13536909	18557990	116448526	34	36999											
CCDC89	220388	broad.mit.edu	37	chr11	85396815	85396815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagcgttcctctagtttcCgactgtactcaccctgggcc	7	12	8	14	2	2	0	1	0	1	0	4	1	4	0	4	1	2	3	4	1	4	5			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr11:85396815C>T	ENST00000316398.3	-	1	505	c.359G>A	c.(358-360)cGg>cAg	p.R120Q		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	120						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTCTAGTTTCCGACTGTACTC	0.542													6	103					0	0	0	0	T	85396815	C	T	85396815	3	4	208	1	0	0	0	0	1	0	0	0	2893	652	23	1	769	1	CCDC89	11	85396815	Missense_Mutation	SNP	C	TCGA-CR-7385-01A-11D-2012-08	66838825	85396815	49609701	35	37000											
CWF19L2	143884	broad.mit.edu	37	chr11	107224441	107224441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcatccagggtgtaatagtCtccatctgtttttcccataa	9	15	7	10	0	3	0	1	0	2	0	6	0	5	0	3	1	0	2	3	1	3	5			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr11:107224441C>G	ENST00000282251.5	-	13	1921	c.1894G>C	c.(1894-1896)Gac>Cac	p.D632H	CWF19L2_ENST00000433523.1_Missense_Mutation_p.D632H	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	632							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GTGTAATAGTCTCCATCTGTT	0.388													14	75					0	0	0	0	G	107224441	C	G	107224441	3	3	208	1	0	0	0	0	1	0	0	0	4104	913	32	2	814	2	CWF19L2	11	107224441	Missense_Mutation	SNP	C	TCGA-CR-7385-01A-11D-2012-08	21827626	107224441	27782075	36	37001											
A2ML1	144568	broad.mit.edu	37	chr12	9027036	9027036	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagctcattaagaacactCagacttacaccttcaccatc	14	9	3	15	0	3	2	3	0	0	2	4	2	3	2	2	0	3	1	2	0	3	3			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr12:9027036C>G	ENST00000299698.7	+	34	4417	c.4237C>G	c.(4237-4239)Cag>Gag	p.Q1413E	A2ML1_ENST00000539547.1_Missense_Mutation_p.Q922E	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1257						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TAAGAACACTCAGACTTACAC	0.433													18	54					0	0	0	0	G	9027036	C	G	9027036	3	3	208	1	0	0	0	0	1	0	0	0	5	827	29	2	4371	2	A2ML1	12	9027036	Missense_Mutation	SNP	C	TCGA-CR-7385-01A-11D-2012-08		9027036	124824859	37	37002											
TM7SF3	51768	broad.mit.edu	37	chr12	27149786	27149786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actccaaattacagcctccaGggacaggatctggataagaa	15	7	9	10	0	1	1	0	0	1	1	3	4	3	4	3	3	2	0	3	3	4	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr12:27149786G>A	ENST00000343028.4	-	4	632	c.407C>T	c.(406-408)cCt>cTt	p.P136L	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	136						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ACAGCCTCCAGGGACAGGATC	0.353													4	22					0	0	0	0	A	27149786	G	A	27149786	3	1	208	1	0	0	0	0	1	0	0	0	16069	1000	35	4	1341	4	TM7SF3	12	27149786	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08	18122750	27149786	106702109	38	37003											
MDM1	56890	broad.mit.edu	37	chr12	68724993	68724993	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagttcctctggtattcActcagcccctgtaatgcaaa	11	11	8	11	0	3	0	2	0	1	0	4	1	4	1	3	2	2	4	3	2	4	4			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr12:68724993A>G	ENST00000303145.7	-	2	113	c.27T>C	c.(25-27)agT>agC	p.S9S	MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000430606.2_Silent_p.S9S|MDM1_ENST00000411698.2_Silent_p.S9S|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000393543.3_Silent_p.S9S	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	9						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TCTGGTATTCACTCAGCCCCT	0.418													9	161					0	0	0	0	G	68724993	A	G	68724993	2	3	208	1	0	0	0	0	0	0	0	1	9481	156	6	5		5	MDM1	12	68724993	Silent	SNP	A	TCGA-CR-7385-01A-11D-2012-08	41575207	68724993	65126902	39	37004											
NAV3	89795	broad.mit.edu	37	chr12	78400292	78400292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgcctctgccatcccttCtccaagtgccagcaagccct	6	10	6	19	0	2	0	0	0	2	0	5	0	4	0	7	0	5	1	7	0	2	1			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr12:78400292C>T	ENST00000397909.2	+	8	1147	c.974C>T	c.(973-975)tCt>tTt	p.S325F	NAV3_ENST00000536525.2_Missense_Mutation_p.S325F|NAV3_ENST00000228327.6_Missense_Mutation_p.S325F|NAV3_ENST00000266692.7_Missense_Mutation_p.S325F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	325						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S325F(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCCATCCCTTCTCCAAGTGCC	0.547										HNSCC(70;0.22)			14	65					0	0	0	0	T	78400292	C	T	78400292	3	4	208	1	0	0	0	0	1	0	0	0	10255	913	32	2	1004	2	NAV3	12	78400292	Missense_Mutation	SNP	C	TCGA-CR-7385-01A-11D-2012-08	9675299	78400292	55451603	40	37005											
STYX	6815	broad.mit.edu	37	chr14	53223283	53223283	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagatatttagtcctggAtattgcagataatccagttg	11	16	8	6	0	1	2	1	0	0	2	3	3	3	3	2	1	1	2	2	1	4	8			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr14:53223283A>T	ENST00000354586.4	+	5	550	c.257A>T	c.(256-258)gAt>gTt	p.D86V	STYX_ENST00000442123.2_Missense_Mutation_p.D86V|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	86					protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					TTAGTCCTGGATATTGCAGAT	0.249													8	49					0	0	0	0	T	53223283	A	T	53223283	3	4	208	1	0	0	0	0	1	0	0	0	15450	333	12	5	275	5	STYX	14	53223283	Missense_Mutation	SNP	A	TCGA-CR-7385-01A-11D-2012-08		53223283	54126257	41	37006											
MAPKBP1	23005	broad.mit.edu	37	chr15	42111558	42111558	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactgcccgtccttgccaaGagtaccaagaaggcactggg	10	6	12	13	1	0	2	0	0	0	2	1	2	1	2	4	2	3	3	4	2	4	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr15:42111558G>A	ENST00000457542.2	+	21	2692	c.2406G>A	c.(2404-2406)aaG>aaA	p.K802K	MAPKBP1_ENST00000514566.1_Silent_p.K802K|MAPKBP1_ENST00000456763.2_Silent_p.K808K|MAPKBP1_ENST00000260357.7_Silent_p.K641K|MAPKBP1_ENST00000221214.6_Silent_p.K685K	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	808										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCCTTGCCAAGAGTACCAAGA	0.542													13	116					0	0	0	0	A	42111558	G	A	42111558	2	1	208	1	0	0	0	0	0	0	0	1	9361	933	33	2		2	MAPKBP1	15	42111558	Silent	SNP	G	TCGA-CR-7385-01A-11D-2012-08		42111558	60419834	42	37007											
LRRC57	255252	broad.mit.edu	37	chr15	42839505	42839505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacttgcagctctcccactGagtcaggtatacttcgaatc	9	12	8	12	1	2	2	1	2	1	0	5	3	2	2	1	1	3	3	1	1	3	4			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr15:42839505G>A	ENST00000323443.2	-	3	813	c.446C>T	c.(445-447)tCa>tTa	p.S149L	LRRC57_ENST00000397130.3_Missense_Mutation_p.S149L|LRRC57_ENST00000563454.1_Missense_Mutation_p.S149L			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	149										breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		CTCTCCCACTGAGTCAGGTAT	0.468													7	84					0	0	0	0	A	42839505	G	A	42839505	3	1	208	1	0	0	0	0	1	0	0	0	9077	1294	45	2	285	2	LRRC57	15	42839505	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08	727947	42839505	59691887	43	37008											
ZNF592	9640	broad.mit.edu	37	chr15	85341886	85341886	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttcagcggacacatcctCaagccgccctggctctcgag	7	8	10	16	3	4	0	2	0	2	0	6	2	5	1	3	2	2	1	3	2	1	1			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr15:85341886C>G	ENST00000299927.3	+	5	2826	c.2804C>G	c.(2803-2805)tCa>tGa	p.S935*	ZNF592_ENST00000560079.2_Nonsense_Mutation_p.S935*			Q92610	ZN592_HUMAN	zinc finger protein 592	935					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GACACATCCTCAAGCCGCCCT	0.632													9	50					0	0	0	0	G	85341886	C	G	85341886	4	3	208	1	0	0	0	0	0	1	0	0	18117	838	29	2	2822	2	ZNF592	15	85341886	Nonsense_Mutation	SNP	C	TCGA-CR-7385-01A-11D-2012-08	42502381	85341886	17189506	44	37009											
SEZ6L2	26470	broad.mit.edu	37	chr16	29888272	29888272	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtgtcgttcctcgggacctCtgcaggggagggaaggcgag	6	7	18	10	4	1	0	0	0	1	0	4	4	2	3	2	5	1	2	2	5	1	1			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr16:29888272C>T	ENST00000308713.5	-	12	2437		c.e12-1		SEZ6L2_ENST00000537485.1_Splice_Site|SEZ6L2_ENST00000346932.5_Splice_Site|SEZ6L2_ENST00000350527.3_Splice_Site	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2							endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCGGGACCTCTGCAGGGGAG	0.662													3	18					0	0	0	0	T	29888272	C	T	29888272	5	4	208	1	0	0	0	0	0	0	1	0	14231	927	32	2	890	2	SEZ6L2	16	29888272	Splice_Site	SNP	C	TCGA-CR-7385-01A-11D-2012-08		29888272	60466481	45	37010											
NMT1	4836	broad.mit.edu	37	chr17	43175832	43175832	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctccagttctgatccgaGagatcaccaggcgggttcac	8	10	11	12	2	3	2	2	1	1	1	5	4	5	2	3	2	1	3	3	2	0	3			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr17:43175832G>C	ENST00000592782.1	+	8	927	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	NMT1_ENST00000258960.2_Missense_Mutation_p.E266Q			P30419	NMT1_HUMAN	N-myristoyltransferase 1	266					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCTGATCCGAGAGATCACCAG	0.522													4	127					0	0	0	0	C	43175832	G	C	43175832	3	2	208	1	0	0	0	0	1	0	0	0	10573	943	33	2	822	2	NMT1	17	43175832	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08		43175832	38019378	46	37011											
NDUFS7	374291	broad.mit.edu	37	chr19	1387822	1387822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcagctcctggcctgcGcggcttccggatccttggtc	2	11	12	16	3	1	0	0	0	1	0	5	1	4	1	4	4	3	3	4	4	0	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr19:1387822G>A	ENST00000313408.7	+	2	52	c.29G>A	c.(28-30)cGc>cAc	p.R10H	NDUFS7_ENST00000546283.1_Missense_Mutation_p.R10H|NDUFS7_ENST00000539480.1_Missense_Mutation_p.R10H|NDUFS7_ENST00000414651.2_Missense_Mutation_p.R10H|NDUFS7_ENST00000233627.9_Missense_Mutation_p.R10H|NDUFS7_ENST00000540530.1_3'UTR			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	10					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	NADH(DB00157)	CCTGGCCTGCGCGGCTTCCGG	0.711													9	41					0	0	0	0	A	1387822	G	A	1387822	3	1	208	1	0	0	0	0	1	0	0	0	10367	1087	38	1	35	1	NDUFS7	19	1387822	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08		1387822	57741161	47	37012											
ATP8B3	148229	broad.mit.edu	37	chr19	1802615	1802615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccacgaagtggtgcatccGactgttaggcgcctcacacg	8	7	11	15	4	1	0	1	0	0	0	2	2	2	0	4	2	1	2	4	2	2	1			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr19:1802615G>A	ENST00000539485.1	-	11	1167	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	ATP8B3_ENST00000525591.1_Missense_Mutation_p.R259W|ATP8B3_ENST00000526092.1_Missense_Mutation_p.R259W|ATP8B3_ENST00000310127.6_Missense_Mutation_p.R312W			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	312					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TGGTGCATCCGACTGTTAGGC	0.612													7	20					0	0	0	0	A	1802615	G	A	1802615	3	1	208	1	0	0	0	0	1	0	0	0	1200	1057	37	1	3092	1	ATP8B3	19	1802615	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08	414793	1802615	57326368	48	37013											
FBN3	84467	broad.mit.edu	37	chr19	8152087	8152087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctgaccatctgcacactCgtccacatcttcggatgacc	8	10	7	16	2	2	2	0	2	2	0	5	3	3	3	3	1	2	2	3	1	0	1			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr19:8152087C>T	ENST00000600128.1	-	54	7042	c.6628G>A	c.(6628-6630)Gag>Aag	p.E2210K	FBN3_ENST00000270509.2_Missense_Mutation_p.E2210K|FBN3_ENST00000601739.1_Missense_Mutation_p.E2210K			Q75N90	FBN3_HUMAN	fibrillin 3	2210	EGF-like 36; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCTGCACACTCGTCCACATCT	0.632													6	54					0	0	0	0	T	8152087	C	T	8152087	3	4	208	1	0	0	0	0	1	0	0	0	5749	893	31	1	1845	1	FBN3	19	8152087	Missense_Mutation	SNP	C	TCGA-CR-7385-01A-11D-2012-08	6349472	8152087	50976896	49	37014											
SLC44A2	57153	broad.mit.edu	37	chr19	10742817	10742817	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgatcatcatggtgattCtggtgctgggctacggtgcg	6	13	15	7	2	3	3	2	3	1	0	3	3	3	3	0	4	3	2	0	4	1	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr19:10742817C>T	ENST00000586078.1	+	10	917	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	SLC44A2_ENST00000407327.4_Silent_p.L268L|SLC44A2_ENST00000335757.5_Silent_p.L270L	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	270					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CATGGTGATTCTGGTGCTGGG	0.562													5	131					0	0	0	0	T	10742817	C	T	10742817	2	4	208	1	0	0	0	0	0	0	0	1	14724	912	32	2		2	SLC44A2	19	10742817	Silent	SNP	C	TCGA-CR-7385-01A-11D-2012-08	2590730	10742817	48386166	50	37015											
LILRB2	10288	broad.mit.edu	37	chr19	54782209	54782209	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaggtccccgcgtgggctGaggtcacaggactcatgggg	6	8	17	10	2	2	1	2	1	0	0	3	2	3	2	2	6	0	2	2	6	1	1			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr19:54782209G>C	ENST00000391748.1	-	7	1290	c.1163C>G	c.(1162-1164)tCa>tGa	p.S388*	LILRB2_ENST00000314446.5_Nonsense_Mutation_p.S388*|LILRB2_ENST00000391749.4_Nonsense_Mutation_p.S388*|LILRB2_ENST00000434421.1_Nonsense_Mutation_p.S272*|LILRB2_ENST00000391746.1_Nonsense_Mutation_p.S388*	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	388	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGCGTGGGCTGAGGTCACAGG	0.592													4	158					0	0	0	0	C	54782209	G	C	54782209	4	2	208	1	0	0	0	0	0	1	0	0	8845	1294	45	2	665	2	LILRB2	19	54782209	Nonsense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08	44039392	54782209	4346774	51	37016											
DIP2A	23181	broad.mit.edu	37	chr21	47959793	47959793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgttgctctgtgcagggtCgatctcctcctgtgacgcct	3	14	11	13	2	2	1	0	1	2	0	5	2	3	1	3	1	2	3	3	1	0	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chr21:47959793C>T	ENST00000318711.7	+	17	2111	c.1928C>T	c.(1927-1929)tCg>tTg	p.S643L	DIP2A_ENST00000457905.3_Missense_Mutation_p.S642L|DIP2A_ENST00000427143.2_Missense_Mutation_p.S578L|DIP2A_ENST00000417564.2_Missense_Mutation_p.S642L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S638L|DIP2A_ENST00000435722.3_Missense_Mutation_p.S642L|DIP2A_ENST00000466639.1_Missense_Mutation_p.S599L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	642					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGTGCAGGGTCGATCTCCTCC	0.597													33	72					0	0	0	0	T	47959793	C	T	47959793	3	4	208	1	0	0	0	0	1	0	0	0	4564	893	31	1	1991	1	DIP2A	21	47959793	Missense_Mutation	SNP	C	TCGA-CR-7385-01A-11D-2012-08		47959793	170102	52	37017											
BCOR	54880	broad.mit.edu	37	chrX	39923017	39923017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttccttcctgctttgccGgccaggtttgccatctgctg	3	14	9	15	1	1	0	0	0	1	0	3	0	3	0	5	2	4	3	5	2	0	4	rs147934033		TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chrX:39923017G>A	ENST00000342274.4	-	8	3951	c.3589C>T	c.(3589-3591)Cgg>Tgg	p.R1197W	BCOR_ENST00000397354.3_Missense_Mutation_p.R1197W|BCOR_ENST00000378444.4_Missense_Mutation_p.R1231W|BCOR_ENST00000378455.4_Missense_Mutation_p.R1179W|BCOR_ENST00000378463.1_Missense_Mutation_p.R74W	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1231					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTGCTTTGCCGGCCAGGTTTG	0.547			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						4	83					0	0	0	0	A	39923017	G	A	39923017	3	1	208	1	0	0	0	0	1	0	0	0	1390	1115	39	1	1608	1	BCOR	23	39923017	Missense_Mutation	SNP	G	TCGA-CR-7385-01A-11D-2012-08		39923017	115347543	53	37018											
AWAT1	158833	broad.mit.edu	37	chrX	69458123	69458123	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccatggcactggcaacctCgtgggcattgtagtgggagg	8	8	16	9	1	0	0	0	0	0	0	1	1	0	1	2	5	2	4	2	5	2	2			TCGA-CR-7385-01A-11D-2012-08	TCGA-CR-7385-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c00b622-c4a4-4862-b14a-a97b7261f46f	bf151f1f-c716-4f9b-b159-f3958a81e2bc	g.chrX:69458123C>T	ENST00000374521.3	+	5	563	c.522C>T	c.(520-522)ctC>ctT	p.L174L		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	174					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CTGGCAACCTCGTGGGCATTG	0.572													10	31					0	0	0	0	T	69458123	C	T	69458123	2	4	208	1	0	0	0	0	0	0	0	1	1238	871	31	1		1	AWAT1	23	69458123	Silent	SNP	C	TCGA-CR-7385-01A-11D-2012-08	29535106	69458123	85812437	54	37019											
DNAJC11	55735	broad.mit.edu	37	chr1	6738499	6738499	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttcccatatatatcataGatggccctggtttgggggtc	7	14	10	10	0	2	1	1	0	1	1	4	1	3	1	2	4	0	1	2	4	4	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:6738499G>A	ENST00000377577.5	-	3	354	c.231C>T	c.(229-231)atC>atT	p.I77I	DNAJC11_ENST00000349363.6_Silent_p.I39I|DNAJC11_ENST00000377573.5_Intron|DNAJC11_ENST00000294401.7_Silent_p.I77I|DNAJC11_ENST00000542246.1_Silent_p.I39I	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	77	J.				protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		ATATATCATAGATGGCCCTGG	0.388													11	48					0	0	0	0	A	6738499	G	A	6738499	2	1	209	1	0	0	0	0	0	0	0	1	4666	932	33	2		2	DNAJC11	1	6738499	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08		6738499	242512122	1	37020											
SLC2A7	155184	broad.mit.edu	37	chr1	9067373	9067373	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtgcaggtactcactgggCccaatggaatgtcccgcgat	8	8	13	12	3	1	0	1	0	0	0	2	2	2	1	2	3	2	2	2	3	3	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:9067373C>T	ENST00000400906.1	-	10	1187	c.1188G>A	c.(1186-1188)ggG>ggA	p.G396G		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	396						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ACTCACTGGGCCCAATGGAAT	0.602													4	53					0	0	0	0	T	9067373	C	T	9067373	2	4	209	1	0	0	0	0	0	0	0	1	14638	726	26	4		4	SLC2A7	1	9067373	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	2328874	9067373	240183248	2	37021											
ZBTB17	7709	broad.mit.edu	37	chr1	16273491	16273491	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccggctcagcaagtgacttGagggcatggcaggccgtgat	8	7	16	10	2	1	3	1	3	0	0	1	3	1	3	2	4	1	4	2	4	1	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:16273491G>C	ENST00000537142.1	-	3	311	c.65C>G	c.(64-66)tCa>tGa	p.S22*	ZBTB17_ENST00000448462.2_Intron|ZBTB17_ENST00000375743.4_Silent_p.L111L|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000375733.2_Silent_p.L111L	NM_001242884.1	NP_001229813.1	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	0	BTB.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGTGACTTGAGGGCATGGC	0.602													8	45					0	0	0	0	C	16273491	G	C	16273491	4	2	209	1	0	0	0	0	0	1	0	0	17622	1277	45	2	2130	2	ZBTB17	1	16273491	Nonsense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	7206118	16273491	232977130	3	37022											
HSPG2	3339	broad.mit.edu	37	chr1	22170783	22170783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgatgcggatgggtggggctCcacctggggctggggcacag	5	6	20	10	2	0	0	0	0	0	0	1	2	1	1	2	8	1	3	2	8	0	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:22170783C>T	ENST00000374695.3	-	65	8553	c.8474G>A	c.(8473-8475)gGa>gAa	p.G2825E		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2825	Ig-like C2-type 13.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGTGGGGCTCCACCTGGGGC	0.682													10	67					0	0	0	0	T	22170783	C	T	22170783	3	4	209	1	0	0	0	0	1	0	0	0	7483	855	30	2	4833	2	HSPG2	1	22170783	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	5897292	22170783	227079838	4	37023											
XKR8	55113	broad.mit.edu	37	chr1	28293631	28293631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggggtatcagctgcctCagaacaggcgcatgacccat	11	6	12	12	1	2	3	2	1	0	2	2	3	2	3	2	3	3	3	2	3	2	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:28293631C>A	ENST00000373884.5	+	3	1716	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	370						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		TCAGCTGCCTCAGAACAGGCG	0.577													10	71					9.70103e-10	1.0453e-09	1	0	A	28293631	C	A	28293631	3	1	209	1	0	0	0	0	1	0	0	0	17533	827	29	2	1118	2	XKR8	1	28293631	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	6122848	28293631	220956990	5	37024											
COL16A1	1307	broad.mit.edu	37	chr1	32165443	32165443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcacgggggccgccccCaggcgcaggatgagaggccc	6	3	18	14	3	1	1	1	1	0	1	1	3	1	2	4	6	0	1	4	6	0	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:32165443C>T	ENST00000373672.3	-	4	753	c.237G>A	c.(235-237)ctG>ctA	p.L79L	COL16A1_ENST00000271069.6_Silent_p.L79L|COL16A1_ENST00000373668.3_Silent_p.L79L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	79	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGCCGCCCCCAGGCGCAGGA	0.592													14	83					0	0	0	0	T	32165443	C	T	32165443	2	4	209	1	0	0	0	0	0	0	0	1	3703	581	21	4		4	COL16A1	1	32165443	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	3871812	32165443	217085178	6	37025											
INPP5B	3633	broad.mit.edu	37	chr1	38345771	38345771	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctacctggtatcccagtcGtcagagcccgtatcatactt	9	11	7	14	2	2	1	2	0	0	1	4	1	3	1	4	1	3	2	4	1	4	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:38345771G>A	ENST00000373023.2	-	15	1860	c.1767C>T	c.(1765-1767)gaC>gaT	p.D589D	INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373027.1_Silent_p.D345D|INPP5B_ENST00000373026.1_Silent_p.D589D|INPP5B_ENST00000373024.3_Silent_p.D509D	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	589				GSDDWDTSEKCRAPAWCDRI -> RALTTGIPVRSAVLLPG VIGF (in Ref. 5; AA sequence).	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TATCCCAGTCGTCAGAGCCCG	0.478													19	78					0	0	0	0	A	38345771	G	A	38345771	2	1	209	1	0	0	0	0	0	0	0	1	7808	1136	40	1		1	INPP5B	1	38345771	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	6180328	38345771	210904850	7	37026											
IPO13	9670	broad.mit.edu	37	chr1	44422118	44422118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatcgctgtggccctgggCgagaaccactcccggtaaag	8	6	13	14	4	0	1	0	0	0	1	2	2	1	1	3	3	1	3	3	3	3	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:44422118C>T	ENST00000372343.3	+	3	1610	c.948C>T	c.(946-948)ggC>ggT	p.G316G	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	316					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGGCCCTGGGCGAGAACCACT	0.597													16	52					0	0	0	0	T	44422118	C	T	44422118	2	4	209	1	0	0	0	0	0	0	0	1	7847	755	27	1		1	IPO13	1	44422118	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	6076347	44422118	204828503	8	37027											
UROD	7389	broad.mit.edu	37	chr1	45480410	45480410	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctgcttttttctagatCatctttgctaaggatgggca	9	16	9	7	0	4	2	1	0	3	2	4	3	4	3	0	2	2	3	0	2	2	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:45480410C>A	ENST00000246337.4	+	8	896	c.777C>A	c.(775-777)atC>atA	p.I259I	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	259						cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTTTCTAGATCATCTTTGCTA	0.527									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	33					0.00909568	0.00943507	1	0	A	45480410	C	A	45480410	2	1	209	1	0	0	0	0	0	0	0	1	17125	816	29	2		2	UROD	1	45480410	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	1058292	45480410	203770211	9	37028											
MUTYH	4595	broad.mit.edu	37	chr1	45797203	45797203	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctcccaggtcacggacggGaactcccacagtcctgccag	8	5	12	16	2	1	0	1	0	0	0	4	2	4	2	4	4	2	1	4	4	1	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:45797203G>A	ENST00000450313.1	-	13	1427	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	MUTYH_ENST00000354383.6_Silent_p.F377F|MUTYH_ENST00000372100.5_Silent_p.F387F|MUTYH_ENST00000372098.3_Silent_p.F401F|MUTYH_ENST00000529984.1_Silent_p.F71F|MUTYH_ENST00000456914.2_Silent_p.F376F|MUTYH_ENST00000448481.1_Silent_p.F387F|MUTYH_ENST00000488731.2_Silent_p.F71F|MUTYH_ENST00000372104.1_Silent_p.F376F|MUTYH_ENST00000372115.3_Silent_p.F390F|MUTYH_ENST00000372110.3_Silent_p.F391F|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000528332.2_Silent_p.F85F|MUTYH_ENST00000355498.2_Silent_p.F376F	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	401	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TCACGGACGGGAACTCCCACA	0.657			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				15	56					0	0	0	0	A	45797203	G	A	45797203	2	1	209	1	0	0	0	0	0	0	0	1	10063	1165	41	2		2	MUTYH	1	45797203	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	316793	45797203	203453418	10	37029											
TACSTD2	4070	broad.mit.edu	37	chr1	59042150	59042150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgcccttgatgtccctctCgaagtagtaggcggcatcgc	6	10	11	14	4	1	1	0	1	1	0	5	2	2	1	2	2	0	3	2	2	3	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:59042150C>T	ENST00000371225.2	-	1	1016	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	227					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					ATGTCCCTCTCGAAGTAGTAG	0.632													4	20					0	0	0	0	T	59042150	C	T	59042150	3	4	209	1	0	0	0	0	1	0	0	0	15599	893	31	1	296	1	TACSTD2	1	59042150	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	13244947	59042150	190208471	11	37030											
KIAA1324	57535	broad.mit.edu	37	chr1	109714534	109714534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatcgcctccaacacggacGaatgcacagccacactgatg	13	5	8	15	3	0	1	0	1	0	0	2	3	1	2	3	1	3	1	3	1	2	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:109714534G>A	ENST00000369939.3	+	4	697	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	KIAA1324_ENST00000529753.1_Missense_Mutation_p.E172K	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	172					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		p.E172K(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CAACACGGACGAATGCACAGC	0.532													17	71					0	0	0	0	A	109714534	G	A	109714534	3	1	209	1	0	0	0	0	1	0	0	0	8274	1059	37	1	528	1	KIAA1324	1	109714534	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	50672384	109714534	139536087	12	37031											
CELSR2	1952	broad.mit.edu	37	chr1	109815344	109815344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctggaaggtcaagaccagCagcatggtgaggacagaacg	13	5	14	9	1	1	3	1	1	0	2	2	5	2	5	2	4	3	2	2	4	3	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:109815344C>A	ENST00000271332.3	+	30	8198	c.8137C>A	c.(8137-8139)Cag>Aag	p.Q2713K	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2713					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCAAGACCAGCAGCATGGTGA	0.622													12	50					0.000978159	0.00103395	1	0	A	109815344	C	A	109815344	3	1	209	1	0	0	0	0	1	0	0	0	3251	711	25	4	8255	4	CELSR2	1	109815344	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	100810	109815344	139435277	13	37032											
LRIG2	9860	broad.mit.edu	37	chr1	113657144	113657144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggagggagtcctgcccctCgtctcaactggactaaagat	9	9	11	12	1	1	1	1	0	1	1	4	4	2	4	3	3	2	0	3	3	3	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:113657144C>T	ENST00000361127.4	+	15	2374	c.2176C>T	c.(2176-2178)Cgt>Tgt	p.R726C	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	726	Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TCCTGCCCCTCGTCTCAACTG	0.498													11	70					0	0	0	0	T	113657144	C	T	113657144	3	4	209	1	0	0	0	0	1	0	0	0	9009	884	31	1	2234	1	LRIG2	1	113657144	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	3841800	113657144	135593477	14	37033											
VPS45	11311	broad.mit.edu	37	chr1	150040002	150040002	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtacttctcatggataaaGagacggtgagtttgcttttg	11	14	11	5	1	1	2	1	1	1	1	2	4	1	3	0	2	2	3	0	2	4	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:150040002G>C	ENST00000369130.3	+	1	634	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	VPS45_ENST00000535106.1_Missense_Mutation_p.E30Q|VPS45_ENST00000369128.5_Intron	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	30					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		p.E30Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATGGATAAAGAGACGGTGAG	0.433													4	49					0	0	0	0	C	150040002	G	C	150040002	3	2	209	1	0	0	0	0	1	0	0	0	17307	943	33	2	90	2	VPS45	1	150040002	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	36382858	150040002	99210619	15	37034											
FLG	2312	broad.mit.edu	37	chr1	152284258	152284258	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgctgactgctggtggcggGatccgtgtctttctcctgga	3	13	14	11	2	2	1	0	1	2	0	4	3	3	3	2	4	2	2	2	4	0	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:152284258G>C	ENST00000368799.1	-	3	3139	c.3104C>G	c.(3103-3105)tCc>tGc	p.S1035C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1035	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGTGGCGGGATCCGTGTCT	0.567									Ichthyosis				41	651					0	0	0	0	C	152284258	G	C	152284258	3	2	209	1	0	0	0	0	1	0	0	0	5967	1174	41	2	9085	2	FLG	1	152284258	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	2244256	152284258	96966363	16	37035											
LCE2C	353140	broad.mit.edu	37	chr1	152648718	152648718	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgctccctgagccaccAcaggccccgtctcttccacc	5	8	8	20	1	1	1	0	1	1	0	4	1	3	1	7	2	2	2	7	2	0	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:152648718A>G	ENST00000368783.1	+	2	282	c.227A>G	c.(226-228)cAc>cGc	p.H76R	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	76	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGCCACCACAGGCCCCGT	0.682													4	143					0	0	0	0	G	152648718	A	G	152648718	3	3	209	1	0	0	0	0	1	0	0	0	8720	159	6	5	229	5	LCE2C	1	152648718	Missense_Mutation	SNP	A	TCGA-CR-7386-01A-11D-2012-08	364460	152648718	96601903	17	37036											
PEA15	8682	broad.mit.edu	37	chr1	160181434	160181434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaggaagacatccccagcGaaaagagtgaggagatcact	16	4	12	9	1	1	4	1	1	0	3	2	7	2	5	2	2	1	1	2	2	4	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:160181434G>A	ENST00000368076.1	+	4	511	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	PEA15_ENST00000360472.4_Missense_Mutation_p.E34K|PEA15_ENST00000488858.1_3'UTR|PEA15_ENST00000368077.1_Missense_Mutation_p.E34K			Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	34	DED.				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding			large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCCCCAGCGAAAAGAGTGA	0.557													12	75					0	0	0	0	A	160181434	G	A	160181434	3	1	209	1	0	0	0	0	1	0	0	0	11782	1059	37	1	102	1	PEA15	1	160181434	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	7532716	160181434	89069187	18	37037											
KLHL20	27252	broad.mit.edu	37	chr1	173744918	173744918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagagctgagcagtgctgaGagatacaaccccagaaccaa	16	4	10	11	0	0	5	0	2	0	3	0	6	0	5	3	0	6	3	3	0	4	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:173744918G>C	ENST00000209884.4	+	10	1711	c.1575G>C	c.(1573-1575)gaG>gaC	p.E525D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E336D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	525					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GCAGTGCTGAGAGATACAACC	0.507													5	75					0	0	0	0	C	173744918	G	C	173744918	3	2	209	1	0	0	0	0	1	0	0	0	8427	933	33	2	1609	2	KLHL20	1	173744918	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	13563484	173744918	75505703	19	37038											
TNN	63923	broad.mit.edu	37	chr1	175097823	175097823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaccatctacctgcatggcGatgccagccggcccctgcag	8	6	10	17	2	1	0	0	0	1	0	1	1	1	0	6	2	5	2	6	2	1	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:175097823G>A	ENST00000239462.4	+	15	3384	c.3271G>A	c.(3271-3273)Gat>Aat	p.D1091N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1091	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTGCATGGCGATGCCAGCCG	0.602													10	82					0	0	0	0	A	175097823	G	A	175097823	3	1	209	1	0	0	0	0	1	0	0	0	16417	1058	37	1	3325	1	TNN	1	175097823	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	1352905	175097823	74152798	20	37039											
PAPPA2	60676	broad.mit.edu	37	chr1	176740227	176740227	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgctcctgcctcactgcctCcaggacaaccacgacgtggg	7	8	10	16	2	1	0	1	0	0	0	3	2	3	1	5	2	4	1	5	2	1	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:176740227C>T	ENST00000367662.3	+	17	5790	c.4626C>T	c.(4624-4626)ctC>ctT	p.L1542L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1542	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCACTGCCTCCAGGACAACC	0.488													7	61					0	0	0	0	T	176740227	C	T	176740227	2	4	209	1	0	0	0	0	0	0	0	1	11504	842	30	2		2	PAPPA2	1	176740227	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	1642404	176740227	72510394	21	37040											
LAMC1	3915	broad.mit.edu	37	chr1	183103932	183103932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccttctggagaaaggcaaGactgaacagcaggttggttt	13	9	12	7	0	1	3	0	1	1	2	1	4	1	3	1	4	3	4	1	4	4	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:183103932G>C	ENST00000258341.4	+	23	4244	c.3987G>C	c.(3985-3987)aaG>aaC	p.K1329N		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1329	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAAGGCAAGACTGAACAGC	0.428													32	174					0	0	0	0	C	183103932	G	C	183103932	3	2	209	1	0	0	0	0	1	0	0	0	8667	933	33	2	4077	2	LAMC1	1	183103932	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	6363705	183103932	66146689	22	37041											
LAMC1	3915	broad.mit.edu	37	chr1	183106903	183106903	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagcaactgcaggaagcaGaaaaagagctaaagagaaaa	22	3	11	5	0	0	4	0	1	0	3	0	6	0	5	0	1	5	4	0	1	9	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:183106903G>C	ENST00000258341.4	+	26	4671	c.4414G>C	c.(4414-4416)Gaa>Caa	p.E1472Q		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1472	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.E1472*(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGGAAGCAGAAAAAGAGCT	0.428													6	32					0	0	0	0	C	183106903	G	C	183106903	3	2	209	1	0	0	0	0	1	0	0	0	8667	943	33	2	4516	2	LAMC1	1	183106903	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	2971	183106903	66143718	23	37042											
PRG4	10216	broad.mit.edu	37	chr1	186276564	186276564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggagcctgcacccacCacccccaagaagcctgcccc	10	2	7	22	0	0	1	0	0	0	1	0	2	0	2	9	1	4	1	9	1	3	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:186276564C>T	ENST00000445192.2	+	7	1758	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T530T|PRG4_ENST00000367486.3_Silent_p.T528T|PRG4_ENST00000367485.4_Silent_p.T478T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	571	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T571T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACCACCCCCAAGA	0.642													4	106					0	0	0	0	T	186276564	C	T	186276564	2	4	209	1	0	0	0	0	0	0	0	1	12561	581	21	4		4	PRG4	1	186276564	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	3169661	186276564	62974057	24	37043											
PRG4	10216	broad.mit.edu	37	chr1	186277112	186277112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcccgctccaactacccCtaaggggactgctccaacta	11	6	7	17	1	0	0	0	0	0	0	2	1	2	1	5	2	5	2	5	2	6	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:186277112C>G	ENST00000445192.2	+	7	2306	c.2261C>G	c.(2260-2262)cCt>cGt	p.P754R	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P713R|PRG4_ENST00000367486.3_Missense_Mutation_p.P711R|PRG4_ENST00000367485.4_Missense_Mutation_p.P661R	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	754	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCAACTACCCCTAAGGGGACT	0.602													40	172					0	0	0	0	G	186277112	C	G	186277112	3	3	209	1	0	0	0	0	1	0	0	0	12561	681	24	4	2283	4	PRG4	1	186277112	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	548	186277112	62973509	25	37044											
C1orf106	55765	broad.mit.edu	37	chr1	200880920	200880920	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcctggctatttcccGgcggggcggtacgtggtggt	2	10	17	12	5	0	0	0	0	0	0	1	0	1	0	3	7	2	2	3	7	2	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:200880920G>A	ENST00000367342.4	+	9	1754	c.1554G>A	c.(1552-1554)ccG>ccA	p.P518P	C1orf106_ENST00000413687.2_Silent_p.P433P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	518										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCTATTTCCCGGCGGGGCGGT	0.726													13	48					0	0	0	0	A	200880920	G	A	200880920	2	1	209	1	0	0	0	0	0	0	0	1	1999	1103	39	1		1	C1orf106	1	200880920	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	14603808	200880920	48369701	26	37045											
CDC42BPA	8476	broad.mit.edu	37	chr1	227268658	227268658	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcttgtctgctagatCtttaacctcttcttctaact	6	21	3	11	0	7	1	0	0	7	1	7	1	7	1	1	0	3	1	1	0	3	9			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:227268658C>A	ENST00000366769.3	-	17	3707	c.2416G>T	c.(2416-2418)Gat>Tat	p.D806Y	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D725Y|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D806Y	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	806					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTGCTAGATCTTTAACCTCT	0.358													18	64					1.99824e-07	2.14482e-07	1	0	A	227268658	C	A	227268658	3	1	209	1	0	0	0	0	1	0	0	0	3101	913	32	2	2823	2	CDC42BPA	1	227268658	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	26387738	227268658	21981963	27	37046											
CCDC88A	55704	broad.mit.edu	37	chr2	55546086	55546086	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaattattgttctgtgtctCaagttgcttcagttgagttt	8	19	8	6	0	3	1	2	1	2	0	4	1	3	1	0	0	1	5	0	0	3	7			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:55546086C>G	ENST00000436346.1	-	19	4058	c.3217G>C	c.(3217-3219)Gag>Cag	p.E1073Q	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1073Q|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1072Q|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1072Q	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1073					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTCTGTGTCTCAAGTTGCTTC	0.383													4	53					0	0	0	0	G	55546086	C	G	55546086	3	3	209	1	0	0	0	0	1	0	0	0	2890	835	29	2	2454	2	CCDC88A	2	55546086	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08		55546086	187653287	28	37047											
RGPD4	285190	broad.mit.edu	37	chr2	108487257	108487257	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatttcggaaccaggaaatCaagaaaaggaaagtgaaaag	20	5	11	5	1	1	2	1	1	0	1	2	5	1	5	1	3	1	1	1	3	8	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:108487257C>T	ENST00000408999.3	+	20	2874	c.2797C>T	c.(2797-2799)Caa>Taa	p.Q933*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.Q933*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	933					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACCAGGAAATCAAGAAAAGGA	0.413													54	258					0	0	0	0	T	108487257	C	T	108487257	4	4	209	1	0	0	0	0	0	1	0	0	13370	827	29	2	2875	2	RGPD4	2	108487257	Nonsense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	52941171	108487257	134712116	29	37048											
GALNT3	2591	broad.mit.edu	37	chr2	166615260	166615260	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttccataaacttactctGaaagacatttctatattttc	14	17	2	8	0	2	2	0	1	2	1	4	2	3	2	1	0	2	0	1	0	7	8			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:166615260G>A	ENST00000392701.3	-	6	1963	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	GALNT3_ENST00000409882.1_Silent_p.F134F	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	396	Catalytic subdomain B.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AACTTACTCTGAAAGACATTT	0.308													8	54					0	0	0	0	A	166615260	G	A	166615260	2	1	209	1	0	0	0	0	0	0	0	1	6263	1281	45	2		2	GALNT3	2	166615260	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	58128003	166615260	76584113	30	37049											
STK39	27347	broad.mit.edu	37	chr2	169023849	169023849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagccaaagttcatctttGaccacaaaagaggtgtaata	16	9	7	9	0	2	2	1	1	1	1	2	2	2	2	3	1	1	2	3	1	5	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:169023849G>A	ENST00000355999.4	-	3	1095	c.390C>T	c.(388-390)gtC>gtT	p.V130V		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	130	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						GTTCATCTTTGACCACAAAAG	0.378													4	37					0	0	0	0	A	169023849	G	A	169023849	2	1	209	1	0	0	0	0	0	0	0	1	15395	1277	45	2		2	STK39	2	169023849	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	2408589	169023849	74175524	31	37050											
LRP2	4036	broad.mit.edu	37	chr2	170101261	170101261	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtgtcacagacccagttCtttgagatacactggtgatt	9	14	9	9	0	3	3	1	2	2	2	3	4	3	3	1	1	1	1	1	1	1	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:170101261C>T	ENST00000263816.3	-	22	3657	c.3372G>A	c.(3370-3372)aaG>aaA	p.K1124K	LRP2_ENST00000443831.1_Silent_p.K987K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1124	LDL-receptor class A 10.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGACCCAGTTCTTTGAGATAC	0.493													20	114					0	0	0	0	T	170101261	C	T	170101261	2	4	209	1	0	0	0	0	0	0	0	1	9020	912	32	2		2	LRP2	2	170101261	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	1077412	170101261	73098112	32	37051											
WIPF1	7456	broad.mit.edu	37	chr2	175432655	175432655	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtgggggaggtgcccCagcactgggcctatcaggag	7	6	19	9	0	1	0	1	0	0	0	1	3	1	3	3	7	2	1	3	7	1	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:175432655C>G	ENST00000392547.2	-	6	1375	c.1276G>C	c.(1276-1278)Ggg>Cgg	p.G426R	WIPF1_ENST00000359761.3_Missense_Mutation_p.G426R|WIPF1_ENST00000272746.5_Missense_Mutation_p.G426R|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.G426R|WIPF1_ENST00000392546.2_Missense_Mutation_p.G426R|WIPF1_ENST00000467149.1_5'UTR|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	426	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGAGGTGCCCCAGCACTGGGC	0.602													10	64					0	0	0	0	G	175432655	C	G	175432655	3	3	209	1	0	0	0	0	1	0	0	0	17463	594	21	4	247	4	WIPF1	2	175432655	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	5331394	175432655	67766718	33	37052											
TTN	7273	broad.mit.edu	37	chr2	179414566	179414566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccagtaatattggtgaatCttattggcccaactactttt	10	15	6	10	0	1	1	0	1	1	0	1	1	1	1	3	2	2	1	3	2	6	8			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:179414566C>T	ENST00000589042.1	-	338	92107	c.91883G>A	c.(91882-91884)aGa>aAa	p.R30628K	TTN_ENST00000359218.5_Missense_Mutation_p.R21688K|TTN_ENST00000460472.2_Missense_Mutation_p.R21563K|TTN_ENST00000342175.6_Missense_Mutation_p.R21755K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28060K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R28987K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28987	Fibronectin type-III 123.						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)			ATTGGTGAATCTTATTGGCCC	0.403													5	109					0	0	0	0	T	179414566	C	T	179414566	3	4	209	1	0	0	0	0	1	0	0	0	16831	913	32	2	16196	2	TTN	2	179414566	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	3981911	179414566	63784807	34	37053											
AOX1	316	broad.mit.edu	37	chr2	201534448	201534448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agattaggatggcctgtgaaGacaagttcacaaaaatggta	16	9	11	5	0	1	3	1	1	0	2	1	4	1	4	1	3	0	2	1	3	6	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:201534448G>A	ENST00000374700.2	+	34	4190	c.3949G>A	c.(3949-3951)Gac>Aac	p.D1317N	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1317					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGCCTGTGAAGACAAGTTCAC	0.448													17	114					0	0	0	0	A	201534448	G	A	201534448	3	1	209	1	0	0	0	0	1	0	0	0	730	942	33	2	4083	2	AOX1	2	201534448	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	22119882	201534448	41664925	35	37054											
PNKD	25953	broad.mit.edu	37	chr2	219204763	219204763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccccaggagtgaaggtgCttcccatccctgtcctctcg	5	11	10	15	1	1	1	0	1	1	0	6	2	5	2	5	2	1	1	5	2	1	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:219204763C>A	ENST00000273077.4	+	4	415	c.364C>A	c.(364-366)Ctt>Att	p.L122I	PNKD_ENST00000258362.3_Missense_Mutation_p.L98I|PNKD_ENST00000436005.2_Missense_Mutation_p.L62I|AC021016.8_ENST00000411433.1_RNA	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	122						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTGAAGGTGCTTCCCATCCC	0.652													13	63					0.000151284	0.000161138	1	0	A	219204763	C	A	219204763	3	1	209	1	0	0	0	0	1	0	0	0	12218	797	28	4	743	4	PNKD	2	219204763	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	17670315	219204763	23994610	36	37055											
EPHA4	2043	broad.mit.edu	37	chr2	222298867	222298867	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatagagacttacatcttGattggacatatcccaatagg	15	11	7	8	0	1	2	0	1	1	1	2	4	2	3	1	2	2	0	1	2	6	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:222298867G>A	ENST00000281821.2	-	14	2532	c.2491C>T	c.(2491-2493)Caa>Taa	p.Q831*	EPHA4_ENST00000409854.1_Nonsense_Mutation_p.Q831*|EPHA4_ENST00000409938.1_Nonsense_Mutation_p.Q831*|EPHA4_ENST00000392071.4_Nonsense_Mutation_p.Q780*	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	831	Protein kinase.					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)		CTTACATCTTGATTGGACATA	0.408													9	70					0	0	0	0	A	222298867	G	A	222298867	4	1	209	1	0	0	0	0	0	1	0	0	5207	1299	45	2	485	2	EPHA4	2	222298867	Nonsense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	3094104	222298867	20900506	37	37056											
CHRNG	1146	broad.mit.edu	37	chr2	233405103	233405103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acccccagaacgagcgagagGaagccctcaccaccaatgtc	13	3	9	16	2	1	2	1	0	0	2	2	5	1	3	5	1	3	0	5	1	3	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:233405103G>A	ENST00000389494.3	+	3	229	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	CHRNG_ENST00000389492.3_Missense_Mutation_p.E70K	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	70					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CGAGCGAGAGGAAGCCCTCAC	0.632													17	78					0	0	0	0	A	233405103	G	A	233405103	3	1	209	1	0	0	0	0	1	0	0	0	3425	1175	41	2	218	2	CHRNG	2	233405103	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	11106236	233405103	9794270	38	37057											
SH3BP4	23677	broad.mit.edu	37	chr2	235949960	235949960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtcatgcccagcctggatGagctgaatcccaaaagtact	11	8	9	13	1	1	2	1	2	0	0	2	3	2	3	4	1	4	2	4	1	4	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:235949960G>A	ENST00000409212.1	+	4	1054	c.547G>A	c.(547-549)Gag>Aag	p.E183K	SH3BP4_ENST00000392011.2_Missense_Mutation_p.E183K|SH3BP4_ENST00000344528.4_Missense_Mutation_p.E183K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	183					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGCCTGGATGAGCTGAATCC	0.493													29	115					0	0	0	0	A	235949960	G	A	235949960	3	1	209	1	0	0	0	0	1	0	0	0	14333	1291	45	2	553	2	SH3BP4	2	235949960	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	2544857	235949960	7249413	39	37058											
TOPBP1	11073	broad.mit.edu	37	chr3	133368367	133368367	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttactttcaggcttatgtGaaactggaatttccactggc	9	15	8	9	0	1	1	1	1	0	0	2	2	2	2	1	3	2	1	1	3	4	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:133368367G>C	ENST00000260810.5	-	10	1495	c.1364C>G	c.(1363-1365)tCa>tGa	p.S455*	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	455					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AGGCTTATGTGAAACTGGAAT	0.393								Other conserved DNA damage response genes					35	124					0	0	0	0	C	133368367	G	C	133368367	4	2	209	1	0	0	0	0	0	1	0	0	16464	1294	45	2	3280	2	TOPBP1	3	133368367	Nonsense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08		133368367	64654063	40	37059											
EPHB1	2047	broad.mit.edu	37	chr3	134911464	134911464	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtttgaaactgccaggcaaGagggaaatctacgtggccat	12	8	12	9	2	1	2	0	1	1	1	1	3	1	3	2	3	3	2	2	3	4	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:134911464G>C	ENST00000398015.3	+	11	2299	c.1929G>C	c.(1927-1929)aaG>aaC	p.K643N	EPHB1_ENST00000493838.1_Missense_Mutation_p.K204N	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	643	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGCCAGGCAAGAGGGAAATCT	0.527													10	37					0	0	0	0	C	134911464	G	C	134911464	3	2	209	1	0	0	0	0	1	0	0	0	5212	933	33	2	1971	2	EPHB1	3	134911464	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	1543097	134911464	63110966	41	37060											
ESYT3	83850	broad.mit.edu	37	chr3	138187688	138187688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttgactacctgaatggtGaatatcgagccaaaaaactc	14	11	7	9	1	0	3	0	3	0	0	2	4	0	3	2	1	3	0	2	1	7	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:138187688G>A	ENST00000389567.4	+	14	1585	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	467	C2 2.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CCTGAATGGTGAATATCGAGC	0.463													44	363					0	0	0	0	A	138187688	G	A	138187688	3	1	209	1	0	0	0	0	1	0	0	0	5304	1291	45	2	1453	2	ESYT3	3	138187688	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	3276224	138187688	59834742	42	37061											
ATR	545	broad.mit.edu	37	chr3	142241603	142241603	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagctgaatcttgagctcgGctattatcagcatacgcaag	11	10	10	10	2	2	2	1	2	1	0	3	2	2	2	0	1	4	6	0	1	5	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:142241603G>A	ENST00000350721.4	-	23	4354	c.4233C>T	c.(4231-4233)agC>agT	p.S1411S	ATR_ENST00000383101.3_Silent_p.S1347S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1411					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTTGAGCTCGGCTATTATCAG	0.358								Other conserved DNA damage response genes					42	121					0	0	0	0	A	142241603	G	A	142241603	2	1	209	1	0	0	0	0	0	0	0	1	1208	1194	42	4		4	ATR	3	142241603	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	4053915	142241603	55780827	43	37062											
ATR	545	broad.mit.edu	37	chr3	142285073	142285073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatcacggaggttggctgaGagtcagttttctttacaagt	10	13	11	7	1	3	1	2	1	1	1	3	3	3	2	0	3	1	3	0	3	2	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:142285073G>C	ENST00000350721.4	-	3	303	c.182C>G	c.(181-183)tCt>tGt	p.S61C	ATR_ENST00000383101.3_Missense_Mutation_p.S61C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	61					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGTTGGCTGAGAGTCAGTTTT	0.378								Other conserved DNA damage response genes					4	36					0	0	0	0	C	142285073	G	C	142285073	3	2	209	1	0	0	0	0	1	0	0	0	1208	942	33	2	7932	2	ATR	3	142285073	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	43470	142285073	55737357	44	37063											
C3orf79	152118	broad.mit.edu	37	chr3	153202424	153202424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggatgttcagttgccatCttctgcctactcctgagctt	6	15	8	12	0	3	1	1	1	2	0	4	2	4	2	3	1	4	3	3	1	1	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:153202424C>G	ENST00000446603.2	+	1	141	c.79C>G	c.(79-81)Ctt>Gtt	p.L27V	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	27										endometrium(1)|large_intestine(3)	4						CAGTTGCCATCTTCTGCCTAC	0.413													19	236					0	0	0	0	G	153202424	C	G	153202424	3	3	209	1	0	0	0	0	1	0	0	0	2267	913	32	2	81	2	C3orf79	3	153202424	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	10917351	153202424	44820006	45	37064											
PLCH1	23007	broad.mit.edu	37	chr3	155200325	155200325	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaattacactctcctgcaGaattgcagttgaatgtaggt	12	12	10	7	0	1	2	0	1	1	1	2	3	1	3	1	2	3	4	1	2	5	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:155200325G>A	ENST00000460012.1	-	23	3757	c.3400C>T	c.(3400-3402)Ctg>Ttg	p.L1134L	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Silent_p.L1134L|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Silent_p.L1172L|PLCH1_ENST00000334686.6_Silent_p.L1134L			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1172					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTCTCCTGCAGAATTGCAGTT	0.458													8	42					0	0	0	0	A	155200325	G	A	155200325	2	1	209	1	0	0	0	0	0	0	0	1	12109	933	33	2		2	PLCH1	3	155200325	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	1997901	155200325	42822105	46	37065											
DGKG	1608	broad.mit.edu	37	chr3	185882740	185882740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgcactcttcaggccGgtgtagatctgccccatctc	5	11	9	16	1	4	1	1	0	3	1	5	1	4	1	4	2	3	2	4	2	1	2	rs137961016	byFrequency	TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:185882740G>A	ENST00000265022.3	-	23	2702	c.2163C>T	c.(2161-2163)acC>acT	p.T721T	DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000382164.4_Silent_p.T682T|DGKG_ENST00000344484.4_Silent_p.T696T|DGKG_ENST00000544847.1_Silent_p.T662T	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	721					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCTTCAGGCCGGTGTAGATCT	0.587													13	52					0	0	0	0	A	185882740	G	A	185882740	2	1	209	1	0	0	0	0	0	0	0	1	4506	1103	39	1		1	DGKG	3	185882740	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	30682415	185882740	12139690	47	37066											
FETUB	26998	broad.mit.edu	37	chr3	186358276	186358276	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccttcccctggcactCtgcatcctagtcctgtgctg	3	13	8	17	0	1	0	0	0	1	0	5	0	5	0	5	1	3	4	5	1	1	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:186358276C>A	ENST00000265029.3	+	1	128	c.27C>A	c.(25-27)ctC>ctA	p.L9L	FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Silent_p.L9L|FETUB_ENST00000450521.1_Silent_p.L9L|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000382136.3_Silent_p.L9L	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	9				L -> P (in Ref. 6; AAH74734).		extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CCCTGGCACTCTGCATCCTAG	0.597													77	209					1.41257e-51	1.55215e-51	1	0	A	186358276	C	A	186358276	2	1	209	1	0	0	0	0	0	0	0	1	5866	900	32	2		2	FETUB	3	186358276	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	475536	186358276	11664154	48	37067											
ST6GAL1	6480	broad.mit.edu	37	chr3	186793540	186793540	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggcacagatgaggacatCtacctgcttggaaaagccac	13	6	11	11	0	1	2	0	1	1	1	1	4	1	4	2	3	3	2	2	3	3	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:186793540C>T	ENST00000169298.3	+	8	1844	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	ST6GAL1_ENST00000457772.2_Silent_p.I159I|ST6GAL1_ENST00000448044.1_Silent_p.I390I	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	390					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		ATGAGGACATCTACCTGCTTG	0.507													5	81					0	0	0	0	T	186793540	C	T	186793540	2	4	209	1	0	0	0	0	0	0	0	1	15311	903	32	2		2	ST6GAL1	3	186793540	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	435264	186793540	11228890	49	37068											
RTP1	132112	broad.mit.edu	37	chr3	186917561	186917561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcctgcgcgagcagtgCtacggcgagcgtggcggcca	7	4	16	14	6	0	0	0	0	0	0	0	2	0	0	3	3	6	2	3	3	1	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:186917561C>G	ENST00000312295.4	+	2	525	c.495C>G	c.(493-495)tgC>tgG	p.C165W	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	165					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GCGAGCAGTGCTACGGCGAGC	0.687													21	29					0	0	0	0	G	186917561	C	G	186917561	3	3	209	1	0	0	0	0	1	0	0	0	13818	805	28	4	501	4	RTP1	3	186917561	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	124021	186917561	11104869	50	37069											
IQCG	84223	broad.mit.edu	37	chr3	197665630	197665630	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtctagattcgttccttCtagattcatttctctgcttt	5	22	5	9	1	4	2	1	0	3	2	7	2	5	2	1	0	1	2	1	0	2	9			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:197665630C>A	ENST00000265239.6	-	5	728	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000453254.1_Nonsense_Mutation_p.E102*|IQCG_ENST00000455191.1_Nonsense_Mutation_p.E102*	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	102										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TTCGTTCCTTCTAGATTCATT	0.338													27	184					2.44723e-14	2.66796e-14	1	0	A	197665630	C	A	197665630	4	1	209	1	0	0	0	0	0	1	0	0	7863	922	32	2	1059	2	IQCG	3	197665630	Nonsense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	10748069	197665630	356800	51	37070											
DGKQ	1609	broad.mit.edu	37	chr4	957073	957073	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctgtctgggggcagcttCgcgtgctgacagacaggggg	6	7	18	10	2	1	2	0	1	1	1	2	2	1	2	0	4	3	4	0	4	0	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:957073C>T	ENST00000273814.3	-	16	1813	c.1740G>A	c.(1738-1740)gcG>gcA	p.A580A	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	580					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGGGCAGCTTCGCGTGCTGAC	0.652													10	38					0	0	0	0	T	957073	C	T	957073	2	4	209	1	0	0	0	0	0	0	0	1	4510	871	31	1		1	DGKQ	4	957073	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08		957073	190197203	52	37071											
HAUS3	79441	broad.mit.edu	37	chr4	2242704	2242704	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accccaattttgttgtatctGatatgggtttacggtgttga	8	17	10	6	1	1	2	0	2	1	0	1	2	1	2	2	2	1	4	2	2	4	8			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:2242704G>C	ENST00000243706.4	-	0	199				HAUS3_ENST00000443786.2_De_novo_Start_InFrame|HAUS3_ENST00000506763.1_De_novo_Start_InFrame|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3						cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGTTGTATCTGATATGGGTTT	0.308													14	46					0	0	0	0	C	2242704	G	C	2242704	1	2	209	1	0	0	0	0	0	0	0	0	7017	1305	45	2		2	HAUS3	4	2242704	Translation_Start_Site	SNP	G	TCGA-CR-7386-01A-11D-2012-08	1285631	2242704	188911572	53	37072											
ADRA2C	152	broad.mit.edu	37	chr4	3768939	3768939	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccgcctacccgcagtgCggcctcaacgacgagacctg	7	4	13	17	6	1	1	1	0	0	1	1	3	1	1	5	2	3	1	5	2	2	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:3768939C>T	ENST00000330055.5	+	1	815	c.606C>T	c.(604-606)tgC>tgT	p.C202C	ADRA2C_ENST00000509482.1_Silent_p.C202C	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	202					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	ACCCGCAGTGCGGCCTCAACG	0.672													3	25					0	0	0	0	T	3768939	C	T	3768939	2	4	209	1	0	0	0	0	0	0	0	1	339	776	27	1		1	ADRA2C	4	3768939	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	1526235	3768939	187385337	54	37073											
KCNIP4	80333	broad.mit.edu	37	chr4	20884283	20884283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcagggcaagagcttcatGagccgctctttaatgctgcg	9	9	13	10	2	2	2	1	1	1	1	2	3	2	2	1	1	5	5	1	1	2	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:20884283G>A	ENST00000382152.2	-	2	278	c.111C>T	c.(109-111)ctC>ctT	p.L37L	KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000382150.4_Intron|KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000382149.4_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	37	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AGAGCTTCATGAGCCGCTCTT	0.448													3	31					0	0	0	0	A	20884283	G	A	20884283	2	1	209	1	0	0	0	0	0	0	0	1	8095	1277	45	2		2	KCNIP4	4	20884283	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	17115344	20884283	170269993	55	37074											
WDR19	57728	broad.mit.edu	37	chr4	39276495	39276495	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctgaagaactctgctttCagcttcgcagctatgttgat	8	13	10	10	1	2	3	1	2	1	1	3	3	2	3	1	1	4	5	1	1	3	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:39276495C>T	ENST00000399820.3	+	33	3787	c.3633C>T	c.(3631-3633)ttC>ttT	p.F1211F	WDR19_ENST00000288634.7_Silent_p.F1051F	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1211					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						ACTCTGCTTTCAGCTTCGCAG	0.488													8	96					0	0	0	0	T	39276495	C	T	39276495	2	4	209	1	0	0	0	0	0	0	0	1	17375	825	29	2		2	WDR19	4	39276495	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	18392212	39276495	151877781	56	37075											
GUF1	60558	broad.mit.edu	37	chr4	44700691	44700691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttctgaaaacacaatcttCtaaataattggtgggaaaac	17	11	7	6	0	3	1	0	1	3	0	3	2	3	2	0	2	2	1	0	2	8	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:44700691C>G	ENST00000281543.5	+	17	2197	c.2003C>G	c.(2002-2004)tCt>tGt	p.S668C	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	668					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ACACAATCTTCTAAATAATTG	0.308													9	26					0	0	0	0	G	44700691	C	G	44700691	3	3	209	1	0	0	0	0	1	0	0	0	6949	913	32	2	2069	2	GUF1	4	44700691	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	5424196	44700691	146453585	57	37076											
RUFY3	22902	broad.mit.edu	37	chr4	71628306	71628306	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctgagtatcaagggcttGattgaatcagctctgaacct	12	11	10	8	0	3	4	2	4	1	0	3	4	3	4	1	1	3	4	1	1	5	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:71628306G>C	ENST00000226328.4	+	2	812	c.249G>C	c.(247-249)ttG>ttC	p.L83F	RUFY3_ENST00000381006.3_Missense_Mutation_p.L83F|RUFY3_ENST00000536664.1_Missense_Mutation_p.L67F|RUFY3_ENST00000502653.1_Missense_Mutation_p.L30F|RUFY3_ENST00000417478.2_Missense_Mutation_p.L143F	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	83					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TCAAGGGCTTGATTGAATCAG	0.473													29	200					0	0	0	0	C	71628306	G	C	71628306	3	2	209	1	0	0	0	0	1	0	0	0	13825	1281	45	2	617	2	RUFY3	4	71628306	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	26927615	71628306	119525970	58	37077											
GK2	2712	broad.mit.edu	37	chr4	80328806	80328806	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcctcctgtcaaactccaGataagccatgaatcaatggt	13	10	6	12	0	2	2	2	1	0	1	5	2	5	2	4	1	2	0	4	1	4	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:80328806G>C	ENST00000358842.3	-	1	566	c.549C>G	c.(547-549)atC>atG	p.I183M		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	183					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TCAAACTCCAGATAAGCCATG	0.403													4	80					0	0	0	0	C	80328806	G	C	80328806	3	2	209	1	0	0	0	0	1	0	0	0	6472	932	33	2	1116	2	GK2	4	80328806	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	8700500	80328806	110825470	59	37078											
THAP9	79725	broad.mit.edu	37	chr4	83838784	83838784	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttgaaaaatcatgtactGaaagtgaatagtgccaccca	17	10	7	7	0	1	3	1	3	0	0	1	3	1	3	2	0	2	1	2	0	7	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:83838784G>C	ENST00000302236.5	+	5	1470	c.1419G>C	c.(1417-1419)ctG>ctC	p.L473L	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	473							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATCATGTACTGAAAGTGAATA	0.388													21	104					0	0	0	0	C	83838784	G	C	83838784	2	2	209	1	0	0	0	0	0	0	0	1	15945	1277	45	2		2	THAP9	4	83838784	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	3509978	83838784	107315492	60	37079											
MEPE	56955	broad.mit.edu	37	chr4	88766888	88766888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggtttgcaggcccaagtGaagctgagagtactcatctt	10	10	12	9	0	2	2	1	2	1	1	2	3	2	2	1	2	3	4	1	2	3	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:88766888G>A	ENST00000497649.2	+	6	1174	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	MEPE_ENST00000560249.1_Missense_Mutation_p.E177K|MEPE_ENST00000540395.1_Missense_Mutation_p.E177K|MEPE_ENST00000424957.3_Missense_Mutation_p.E290K|MEPE_ENST00000361056.3_Missense_Mutation_p.E290K|MEPE_ENST00000395102.4_Missense_Mutation_p.E321K|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	290					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGGCCCAAGTGAAGCTGAGAG	0.448													9	55					0	0	0	0	A	88766888	G	A	88766888	3	1	209	1	0	0	0	0	1	0	0	0	9547	1291	45	2	878	2	MEPE	4	88766888	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	4928104	88766888	102387388	61	37080											
FAM13A	10144	broad.mit.edu	37	chr4	89652580	89652580	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgttccaggagttcaggtCtaagagagaggaagcattgc	11	9	15	6	0	2	2	1	0	1	2	3	5	3	4	1	4	2	3	1	4	2	4	rs147595342	by1000genomes	TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:89652580C>G	ENST00000264344.5	-	23	3051		c.e23-1		FAM13A_ENST00000395002.2_Splice_Site|FAM13A_ENST00000508369.1_Splice_Site|FAM13A_ENST00000513837.1_Splice_Site|FAM13A_ENST00000511976.1_Splice_Site|FAM13A_ENST00000503556.1_Splice_Site	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GAGTTCAGGTCTAAGAGAGAG	0.398													4	31					0	0	0	0	G	89652580	C	G	89652580	5	3	209	1	0	0	0	0	0	0	1	0	5493	927	32	2	236	2	FAM13A	4	89652580	Splice_Site	SNP	C	TCGA-CR-7386-01A-11D-2012-08	885692	89652580	101501696	62	37081											
ENPEP	2028	broad.mit.edu	37	chr4	111397596	111397596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgcggagagagagggctCtaagagatactgcattcaaa	13	9	12	7	1	2	3	1	0	1	3	2	6	2	3	0	2	3	2	0	2	3	4	rs147278588		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:111397596C>G	ENST00000265162.5	+	1	368	c.26C>G	c.(25-27)tCt>tGt	p.S9C		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	9					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGAGAGGGCTCTAAGAGATAC	0.433													17	121					0	0	0	0	G	111397596	C	G	111397596	3	3	209	1	0	0	0	0	1	0	0	0	5166	913	32	2	28	2	ENPEP	4	111397596	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	21745016	111397596	79756680	63	37082											
ANK2	287	broad.mit.edu	37	chr4	114158298	114158298	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgccgcacttctgcttcaGaatgaccacaatgctgacgt	9	11	8	13	2	3	3	1	2	2	1	3	3	3	3	2	0	3	3	2	0	2	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:114158298G>C	ENST00000357077.4	+	6	692	c.639G>C	c.(637-639)caG>caC	p.Q213H	ANK2_ENST00000394537.3_Missense_Mutation_p.Q213H|ANK2_ENST00000506722.1_Missense_Mutation_p.Q192H|ANK2_ENST00000264366.6_Missense_Mutation_p.Q213H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	213					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCTGCTTCAGAATGACCACA	0.488													11	125					0	0	0	0	C	114158298	G	C	114158298	3	2	209	1	0	0	0	0	1	0	0	0	621	933	33	2	686	2	ANK2	4	114158298	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	2760702	114158298	76995978	64	37083											
TNIP3	79931	broad.mit.edu	37	chr4	122068285	122068285	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttgattaagtctctcTcgatccgatcgttccttttt	5	20	5	11	3	3	1	0	1	3	0	9	3	5	1	2	0	0	1	2	0	1	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:122068285T>C	ENST00000454328.1	-	9	881	c.654A>G	c.(652-654)cgA>cgG	p.R218R	TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000507879.1_Silent_p.R288R|TNIP3_ENST00000057513.3_Silent_p.R218R|TNIP3_ENST00000509841.1_Silent_p.R295R			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	218										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TAAGTCTCTCTCGATCCGATC	0.373													7	70					0	0	0	0	C	122068285	T	C	122068285	2	2	209	1	0	0	0	0	0	0	0	1	16410	1538	54	5		5	TNIP3	4	122068285	Silent	SNP	T	TCGA-CR-7386-01A-11D-2012-08	7909987	122068285	69085991	65	37084											
GLRB	2743	broad.mit.edu	37	chr4	158057783	158057783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaaaaaagtgccaattttCatgatgtgacccaggaaaac	17	9	8	7	0	1	3	1	3	0	0	1	4	1	4	2	1	2	0	2	1	6	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:158057783C>T	ENST00000264428.4	+	5	730	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.H154Y|GLRB_ENST00000541722.1_Missense_Mutation_p.H154Y	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	154					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.H154Y(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TGCCAATTTTCATGATGTGAC	0.353													17	106					0	0	0	0	T	158057783	C	T	158057783	3	4	209	1	0	0	0	0	1	0	0	0	6509	826	29	2	474	2	GLRB	4	158057783	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	35989498	158057783	33096493	66	37085											
FAT1	2195	broad.mit.edu	37	chr4	187532590	187532590	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcatttccacttattattGagtaggtgatttctgcattt	8	20	7	6	0	2	2	1	2	1	0	3	2	3	2	1	1	1	3	1	1	3	8			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:187532590G>C	ENST00000441802.2	-	14	10012	c.9803C>G	c.(9802-9804)tCa>tGa	p.S3268*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3268	Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTTATTATTGAGTAGGTGAT	0.403										HNSCC(5;0.00058)			7	27					0	0	0	0	C	187532590	G	C	187532590	4	2	209	1	0	0	0	0	0	1	0	0	5734	1294	45	2	4019	2	FAT1	4	187532590	Nonsense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	29474807	187532590	3621686	67	37086											
FAT1	2195	broad.mit.edu	37	chr4	187539227	187539227	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taacttggccgttggttcctGagtcagcatcagatgccctg	7	12	11	11	1	2	2	2	1	0	1	3	2	3	2	3	2	3	3	3	2	1	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:187539227G>C	ENST00000441802.2	-	10	8722	c.8513C>G	c.(8512-8514)tCa>tGa	p.S2838*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2838	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTGGTTCCTGAGTCAGCATC	0.448										HNSCC(5;0.00058)			15	106					0	0	0	0	C	187539227	G	C	187539227	4	2	209	1	0	0	0	0	0	1	0	0	5734	1294	45	2	5325	2	FAT1	4	187539227	Nonsense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	6637	187539227	3615049	68	37087											
FAT1	2195	broad.mit.edu	37	chr4	187629184	187629184	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctgatactgtaccaactGaagttcatctgcatcaatag	14	12	6	9	0	4	2	2	2	2	0	4	2	4	2	1	0	4	3	1	0	7	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:187629184G>A	ENST00000441802.2	-	2	2007	c.1798C>T	c.(1798-1800)Cag>Tag	p.Q600*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	600	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTACCAACTGAAGTTCATCT	0.408										HNSCC(5;0.00058)			6	41					0	0	0	0	A	187629184	G	A	187629184	4	1	209	1	0	0	0	0	0	1	0	0	5734	1299	45	2	12072	2	FAT1	4	187629184	Nonsense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	89957	187629184	3525092	69	37088											
DNAH5	1767	broad.mit.edu	37	chr5	13841896	13841896	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaagatgcaatgaggactGagattcttccaaaagagaat	17	8	9	7	0	1	4	0	2	1	3	2	7	2	5	1	1	1	1	1	1	5	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:13841896G>C	ENST00000265104.4	-	33	5493	c.5389C>G	c.(5389-5391)Cag>Gag	p.Q1797E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1797	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATGAGGACTGAGATTCTTCC	0.438									Kartagener syndrome				7	50					0	0	0	0	C	13841896	G	C	13841896	3	2	209	1	0	0	0	0	1	0	0	0	4641	1299	45	2	8673	2	DNAH5	5	13841896	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08		13841896	167073364	70	37089											
DNAH5	1767	broad.mit.edu	37	chr5	13883188	13883188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgttctgcttcatgttaGaggcactgttactgtctgag	8	15	10	8	0	3	2	1	1	2	1	3	2	3	2	0	1	3	5	0	1	3	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:13883188G>A	ENST00000265104.4	-	20	3103	c.2999C>T	c.(2998-3000)tCt>tTt	p.S1000F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1000	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTCATGTTAGAGGCACTGTT	0.418									Kartagener syndrome				13	92					0	0	0	0	A	13883188	G	A	13883188	3	1	209	1	0	0	0	0	1	0	0	0	4641	942	33	2	11115	2	DNAH5	5	13883188	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	41292	13883188	167032072	71	37090											
LMBRD2	92255	broad.mit.edu	37	chr5	36122518	36122518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcttgttccaaaagaatCtgccattgtacttgagttcg	11	14	8	8	1	1	2	0	1	1	1	3	2	2	2	2	0	3	4	2	0	5	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:36122518C>A	ENST00000296603.4	-	9	1446	c.984G>T	c.(982-984)caG>caT	p.Q328H		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	328						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAAAAGAATCTGCCATTGTA	0.408													4	40					0.00909568	0.00943507	1	0	A	36122518	C	A	36122518	3	1	209	1	0	0	0	0	1	0	0	0	8898	912	32	2	1143	2	LMBRD2	5	36122518	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	22239330	36122518	144792742	72	37091											
TTC33	23548	broad.mit.edu	37	chr5	40747077	40747077	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgctgggaagtgacctttGagaccttctcaccaattttc	9	13	8	11	0	1	2	1	2	1	1	3	4	1	3	3	1	1	1	3	1	2	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:40747077G>C	ENST00000337702.4	-	2	196	c.44C>G	c.(43-45)tCa>tGa	p.S15*	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	15							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AGTGACCTTTGAGACCTTCTC	0.388													6	46					0	0	0	0	C	40747077	G	C	40747077	4	2	209	1	0	0	0	0	0	1	0	0	16798	1294	45	2	760	2	TTC33	5	40747077	Nonsense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	4624559	40747077	140168183	73	37092											
C6	729	broad.mit.edu	37	chr5	41203191	41203191	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaagctcacacccaccTgtgtctgctctgggttccag	8	9	8	16	0	3	0	1	0	2	0	4	0	4	0	4	1	2	3	4	1	1	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:41203191T>C	ENST00000263413.3	-	2	406	c.143_splice	c.e2+1	p.R48_splice	C6_ENST00000337836.5_Splice_Site_p.R48_splice	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	48	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACACCCACCTGTGTCTGCTC	0.478													6	238					0	0	0	0	C	41203191	T	C	41203191	5	2	209	1	0	0	0	0	0	0	1	0	2336	1594	55	5	2730	5	C6	5	41203191	Splice_Site	SNP	T	TCGA-CR-7386-01A-11D-2012-08	456114	41203191	139712069	74	37093											
SEPP1	6414	broad.mit.edu	37	chr5	42808335	42808335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accattggagtttagcattgGatcttgatctcttatgctcc	8	16	8	9	0	2	1	0	1	2	0	4	3	3	3	2	2	2	3	2	2	2	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:42808335G>A	ENST00000514985.1	-	2	377	c.121C>T	c.(121-123)Cca>Tca	p.P41S	SEPP1_ENST00000511224.1_Missense_Mutation_p.P41S|SEPP1_ENST00000507920.1_Missense_Mutation_p.P41S|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.P41S	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	41					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TTTAGCATTGGATCTTGATCT	0.502													6	37					0	0	0	0	A	42808335	G	A	42808335	3	1	209	1	0	0	0	0	1	0	0	0	14144	1174	41	2	1040	2	SEPP1	5	42808335	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	1605144	42808335	138106925	75	37094											
BTF3	689	broad.mit.edu	37	chr5	72798854	72798854	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgctgagacaaagcagctGacagaaatgctacccagcat	15	6	9	11	0	0	3	0	2	0	2	0	4	0	3	1	0	6	5	1	0	3	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:72798854G>C	ENST00000380591.3	+	4	648	c.429G>C	c.(427-429)ctG>ctC	p.L143L	BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Silent_p.L99L	NM_001037637.1	NP_001032726.1	P20290	BTF3_HUMAN	basic transcription factor 3	143	NAC-A/B.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		CAAAGCAGCTGACAGAAATGC	0.473													15	86					0	0	0	0	C	72798854	G	C	72798854	2	2	209	1	0	0	0	0	0	0	0	1	1560	1277	45	2		2	BTF3	5	72798854	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	29990519	72798854	108116406	76	37095											
REEP5	7905	broad.mit.edu	37	chr5	112256898	112256898	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaatcctatcaggttgcaGaggagagaggctccataacc	13	7	10	11	0	1	2	1	0	0	2	3	4	3	3	4	3	2	3	4	3	3	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:112256898G>C	ENST00000379638.4	-	2	522	c.174C>G	c.(172-174)ctC>ctG	p.L58L	REEP5_ENST00000504247.1_Silent_p.L58L|REEP5_ENST00000545426.1_Silent_p.L58L|REEP5_ENST00000474542.2_5'UTR|REEP5_ENST00000513339.1_Silent_p.L58L	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	58						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		TCAGGTTGCAGAGGAGAGAGG	0.597													7	43					0	0	0	0	C	112256898	G	C	112256898	2	2	209	1	0	0	0	0	0	0	0	1	13290	929	33	2		2	REEP5	5	112256898	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	39458044	112256898	68658362	77	37096											
HSD17B4	3295	broad.mit.edu	37	chr5	118832266	118832266	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagtataattgaagttctGagtaaaatagattcagaagg	16	11	11	3	0	2	4	1	2	1	2	2	4	2	4	0	2	0	4	0	2	7	7			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:118832266G>C	ENST00000504811.1	+	13	1156	c.972G>C	c.(970-972)ctG>ctC	p.L324L	HSD17B4_ENST00000509514.1_Silent_p.L37L|HSD17B4_ENST00000510025.1_Silent_p.L275L|HSD17B4_ENST00000515320.1_Silent_p.L281L|HSD17B4_ENST00000256216.6_Silent_p.L299L|HSD17B4_ENST00000513628.1_Silent_p.L162L|HSD17B4_ENST00000414835.2_Silent_p.L159L	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	299	Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TTGAAGTTCTGAGTAAAATAG	0.333													8	115					0	0	0	0	C	118832266	G	C	118832266	2	2	209	1	0	0	0	0	0	0	0	1	7436	1277	45	2		2	HSD17B4	5	118832266	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	6575368	118832266	62082994	78	37097											
RAD50	10111	broad.mit.edu	37	chr5	131930643	131930643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagagcagttgtccagttacGaagacaagctgtttgatgtt	12	12	11	6	1	0	3	0	1	0	2	1	4	1	3	1	0	3	6	1	0	4	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:131930643G>A	ENST00000378823.3	+	12	2277	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	RAD50_ENST00000265335.6_Missense_Mutation_p.E626K	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	626					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCCAGTTACGAAGACAAGCT	0.338								Homologous recombination					12	63					0	0	0	0	A	131930643	G	A	131930643	3	1	209	1	0	0	0	0	1	0	0	0	13066	1059	37	1	1922	1	RAD50	5	131930643	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	13098377	131930643	48984617	79	37098											
PCDHA2	56146	broad.mit.edu	37	chr5	140176795	140176795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcgccgtggggagctggtCttactcgcagcagaggcggc	6	6	17	12	4	1	1	0	0	1	1	2	2	1	2	1	5	4	3	1	5	1	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:140176795C>T	ENST00000526136.1	+	1	2246	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.S749F|PCDHA2_ENST00000520672.2_Missense_Mutation_p.S749F	NM_018905.2	NP_061728.1												p.S749Y(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCTGGTCTTACTCGCAG	0.672													19	77					0	0	0	0	T	140176795	C	T	140176795	3	4	209	1	0	0	0	0	1	0	0	0	11595	913	32	2	2248	2	PCDHA2	5	140176795	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	8246152	140176795	40738465	80	37099											
PCDHA13	56136	broad.mit.edu	37	chr5	140263342	140263342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcctactcgctggtggagCggcgggtgggcgagcgtgcg	3	8	19	11	6	1	0	0	0	1	0	3	2	1	1	1	5	4	1	1	5	1	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:140263342C>T	ENST00000289272.2	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R497W|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.662													12	85					0	0	0	0	T	140263342	C	T	140263342	3	4	209	1	0	0	0	0	1	0	0	0	11594	759	27	1	1491	1	PCDHA13	5	140263342	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	86547	140263342	40651918	81	37100											
RELL2	285613	broad.mit.edu	37	chr5	141019745	141019745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acccctcgtgcacttgaaggGaaccccagagcttctgcaga	10	7	10	14	1	1	3	0	1	1	2	2	4	1	4	4	1	4	3	4	1	2	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:141019745G>A	ENST00000297164.3	+	5	1962	c.762G>A	c.(760-762)ggG>ggA	p.G254G	FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000521367.1_Silent_p.G188G|RELL2_ENST00000444782.1_Silent_p.G254G|RELL2_ENST00000518856.1_Silent_p.G188G|FCHSD1_ENST00000523856.1_5'UTR|RELL2_ENST00000518025.1_3'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	254						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTTGAAGGGAACCCCAGAG	0.647													4	58					0	0	0	0	A	141019745	G	A	141019745	2	1	209	1	0	0	0	0	0	0	0	1	13301	1161	41	2		2	RELL2	5	141019745	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	756403	141019745	39895515	82	37101											
STK32A	202374	broad.mit.edu	37	chr5	146750271	146750271	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaaattgtacacacgtttGagacgactgttgtaacttac	13	12	9	7	2	0	1	0	1	0	1	0	4	0	2	0	1	3	4	0	1	4	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:146750271G>C	ENST00000397936.3	+	9	1048	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	STK32A_ENST00000398523.3_Missense_Mutation_p.E239Q	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	239	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACACGTTTGAGACGACTGT	0.398													9	131					0	0	0	0	C	146750271	G	C	146750271	3	2	209	1	0	0	0	0	1	0	0	0	15387	1291	45	2	778	2	STK32A	5	146750271	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	5730526	146750271	34164989	83	37102											
GCNT2	2651	broad.mit.edu	37	chr6	10529667	10529667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggctgacctgaactgcctgGaagaccttgtggcctctgaa	9	9	12	11	0	1	4	0	3	1	1	1	5	1	5	4	3	2	1	4	3	3	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:10529667G>A	ENST00000379597.3	+	1	1079	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	GCNT2_ENST00000495262.1_Missense_Mutation_p.E175K|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	175						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GAACTGCCTGGAAGACCTTGT	0.507													21	39					0	0	0	0	A	10529667	G	A	10529667	3	1	209	1	0	0	0	0	1	0	0	0	6350	1175	41	2	525	2	GCNT2	6	10529667	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08		10529667	160585400	84	37103											
OR2J3	442186	broad.mit.edu	37	chr6	29079743	29079743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattttctaattggcctcatCtggaagtagttatctttgtg	8	18	9	6	0	4	0	1	0	3	0	4	2	4	1	1	2	0	2	1	2	4	7			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:29079743C>G	ENST00000377169.1	+	1	76	c.76C>G	c.(76-78)Ctg>Gtg	p.L26V		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTGGCCTCATCTGGAAGTAGT	0.383													33	109					0	0	0	0	G	29079743	C	G	29079743	3	3	209	1	0	0	0	0	1	0	0	0	11075	912	32	2	78	2	OR2J3	6	29079743	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	18550076	29079743	142035324	85	37104											
MDC1	9656	broad.mit.edu	37	chr6	30671732	30671732	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttaggttccaagggtgcaGagcaaggcttatggtcaatg	11	11	13	6	0	1	1	1	0	0	1	2	1	2	1	1	4	2	4	1	4	5	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:30671732G>C	ENST00000376406.3	-	10	5875	c.5228C>G	c.(5227-5229)tCt>tGt	p.S1743C	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S1479C	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1743	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CAAGGGTGCAGAGCAAGGCTT	0.562								Other conserved DNA damage response genes					19	66					0	0	0	0	C	30671732	G	C	30671732	3	2	209	1	0	0	0	0	1	0	0	0	9472	942	33	2	1065	2	MDC1	6	30671732	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	1591989	30671732	140443335	86	37105											
PSORS1C2	170680	broad.mit.edu	37	chr6	31106763	31106763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctctggtgtgcaggCaaaggaccaggatccccagg	9	6	12	14	0	2	0	1	0	1	0	3	2	3	2	5	5	1	2	5	5	1	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:31106763C>A	ENST00000259845.4	-	1	364	c.41G>T	c.(40-42)tGc>tTc	p.C14F	PSORS1C1_ENST00000481450.2_Intron|PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000547221.1_Intron	NM_014069.2	NP_054788.2	Q9UIG4	PS1C2_HUMAN	psoriasis susceptibility 1 candidate 2	14						extracellular region				NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGTGTGCAGGCAAAGGACCAG	0.597													10	51					0.00829132	0.00866536	1	0	A	31106763	C	A	31106763	3	1	209	1	0	0	0	0	1	0	0	0	12794	710	25	4	377	4	PSORS1C2	6	31106763	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	435031	31106763	140008304	87	37106											
DST	667	broad.mit.edu	37	chr6	56374648	56374648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgcgttccaggctctcaagGatctgatctatcttgtcatg	8	14	9	10	1	5	1	2	1	4	0	7	2	6	2	1	2	1	2	1	2	2	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:56374648G>A	ENST00000370754.5	-	74	18710	c.18711C>T	c.(18709-18711)atC>atT	p.I6237I	DST_ENST00000421834.2_Silent_p.I3971I|DST_ENST00000244364.6_Silent_p.I3645I|DST_ENST00000370788.2_Silent_p.I3862I|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Silent_p.I5948I|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Silent_p.I5733I|DST_ENST00000370769.4_Silent_p.I6059I			Q03001	DYST_HUMAN	dystonin	6057					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCTCTCAAGGATCTGATCTA	0.398													5	45					0	0	0	0	A	56374648	G	A	56374648	2	1	209	1	0	0	0	0	0	0	0	1	4819	1164	41	2		2	DST	6	56374648	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	25267885	56374648	114740419	88	37107											
DOPEY1	23033	broad.mit.edu	37	chr6	83810518	83810518	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acatccagcattaccaggtgGagttcatcggaaggcgcttg	10	9	12	10	2	1	0	1	0	0	0	3	2	2	2	2	4	2	3	2	4	2	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:83810518G>C	ENST00000349129.2	+	4	493	c.233G>C	c.(232-234)gGa>gCa	p.G78A	DOPEY1_ENST00000237163.5_Missense_Mutation_p.G78A|DOPEY1_ENST00000536812.1_Missense_Mutation_p.G78A|DOPEY1_ENST00000369739.3_Missense_Mutation_p.G78A	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	78					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTACCAGGTGGAGTTCATCGG	0.363													26	181					0	0	0	0	C	83810518	G	C	83810518	3	2	209	1	0	0	0	0	1	0	0	0	4743	1174	41	2	239	2	DOPEY1	6	83810518	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	27435870	83810518	87304549	89	37108											
RARS2	57038	broad.mit.edu	37	chr6	88251661	88251661	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agagatgctgtagaggattgGactgcagtttttcctcatag	10	13	12	6	0	1	2	1	0	0	2	2	5	2	4	1	2	2	4	1	2	2	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:88251661G>C	ENST00000369536.5	-	8	632	c.587C>G	c.(586-588)tCc>tGc	p.S196C		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	196					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TAGAGGATTGGACTGCAGTTT	0.363													4	26					0	0	0	0	C	88251661	G	C	88251661	3	2	209	1	0	0	0	0	1	0	0	0	13141	1174	41	2	1201	2	RARS2	6	88251661	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	4441143	88251661	82863406	90	37109											
REV3L	5980	broad.mit.edu	37	chr6	111696128	111696128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaagcattgcctctttttCtgcagcagccatgatttctt	10	15	6	10	0	3	1	0	1	3	0	3	1	3	1	2	0	5	3	2	0	2	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:111696128C>T	ENST00000435970.1	-	15	4012	c.3196G>A	c.(3196-3198)Gaa>Aaa	p.E1066K	REV3L_ENST00000358835.3_Missense_Mutation_p.E1144K|REV3L_ENST00000368802.3_Missense_Mutation_p.E1144K|REV3L_ENST00000368805.1_Missense_Mutation_p.E1144K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1144					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCCTCTTTTTCTGCAGCAGCC	0.418								DNA polymerases (catalytic subunits)					15	117					0	0	0	0	T	111696128	C	T	111696128	3	4	209	1	0	0	0	0	1	0	0	0	13322	922	32	2	6042	2	REV3L	6	111696128	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	23444467	111696128	59418939	91	37110											
LAMA2	3908	broad.mit.edu	37	chr6	129714246	129714246	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggagagtcccggggggAaaatgaagaaatggagaagg	14	6	18	3	1	0	4	0	1	0	3	1	7	1	5	1	6	0	1	1	6	5	1	rs141950826		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:129714246A>G	ENST00000421865.2	+	37	5340	c.5291A>G	c.(5290-5292)gAa>gGa	p.E1764G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1764	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.E1764G(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCCCGGGGGGAAAATGAAGAA	0.453													3	73					0	0	0	0	G	129714246	A	G	129714246	3	3	209	1	0	0	0	0	1	0	0	0	8659	246	9	5	5437	5	LAMA2	6	129714246	Missense_Mutation	SNP	A	TCGA-CR-7386-01A-11D-2012-08	18018118	129714246	41400821	92	37111											
SYNE1	23345	broad.mit.edu	37	chr6	152557387	152557387	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagtcgtttcccatcatCtaatacttgatataatttgg	12	15	6	8	1	2	2	1	1	1	1	4	2	3	2	1	1	1	1	1	1	5	7			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:152557387C>G	ENST00000367255.5	-	110	20852	c.20251G>C	c.(20251-20253)Gat>Cat	p.D6751H	SYNE1_ENST00000265368.4_Missense_Mutation_p.D6751H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D6680H|SYNE1_ENST00000356820.4_Missense_Mutation_p.D1275H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D6680H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D6363H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6751					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCCATCATCTAATACTTGA	0.328										HNSCC(10;0.0054)			5	50					0	0	0	0	G	152557387	C	G	152557387	3	3	209	1	0	0	0	0	1	0	0	0	15536	913	32	2	6363	2	SYNE1	6	152557387	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	22843141	152557387	18557680	93	37112											
CCR6	1235	broad.mit.edu	37	chr6	167550802	167550802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatttctcggcagaccagtGagaccgcagataacgacaat	14	7	9	11	3	1	3	0	1	1	3	2	5	1	3	2	1	1	2	2	1	2	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:167550802G>A	ENST00000341935.5	+	3	1636	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	CCR6_ENST00000400926.2_Missense_Mutation_p.E362K|CCR6_ENST00000349984.4_Missense_Mutation_p.E362K	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	362					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GCAGACCAGTGAGACCGCAGA	0.468													5	52					0	0	0	0	A	167550802	G	A	167550802	3	1	209	1	0	0	0	0	1	0	0	0	2974	1291	45	2	1090	2	CCR6	6	167550802	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	14993415	167550802	3564265	94	37113											
CCDC129	223075	broad.mit.edu	37	chr7	31683300	31683300	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctaagcaacaagaccttGacacatgggccccagcccct	11	6	8	16	0	1	2	0	1	1	1	1	2	1	2	5	1	3	2	5	1	3	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:31683300G>A	ENST00000319386.3	+	11	2865	c.1872G>A	c.(1870-1872)ttG>ttA	p.L624L	CCDC129_ENST00000409210.1_Silent_p.L680L|CCDC129_ENST00000451887.2_Silent_p.L798L|CCDC129_ENST00000407970.3_Silent_p.L772L			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	772										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACAAGACCTTGACACATGGGC	0.502													17	79					0	0	0	0	A	31683300	G	A	31683300	2	1	209	1	0	0	0	0	0	0	0	1	2789	1281	45	2		2	CCDC129	7	31683300	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08		31683300	127455363	95	37114											
HECW1	23072	broad.mit.edu	37	chr7	43531746	43531746	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acagcttagtagctgctattCgaagccaacatcaacatgag	14	9	8	10	1	1	1	1	1	0	0	2	2	1	1	1	0	6	4	1	0	6	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:43531746C>G	ENST00000395891.1	+	18	3912	c.3307C>G	c.(3307-3309)Cga>Gga	p.R1103G	HECW1_ENST00000453890.1_Missense_Mutation_p.R1069G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1103					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCTGCTATTCGAAGCCAACA	0.423													9	73					0	0	0	0	G	43531746	C	G	43531746	3	3	209	1	0	0	0	0	1	0	0	0	7092	876	31	3	3369	3	HECW1	7	43531746	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	11848446	43531746	115606917	96	37115											
C7orf57	136288	broad.mit.edu	37	chr7	48092304	48092304	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactctttttaaggcctggtCaaaaaaacagttcacctacc	13	12	5	11	0	3	0	2	0	1	0	3	0	3	0	3	2	3	1	3	2	6	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:48092304C>G	ENST00000348904.3	+	7	825	c.613C>G	c.(613-615)Caa>Gaa	p.Q205E	C7orf57_ENST00000539619.1_Missense_Mutation_p.Q205E|C7orf57_ENST00000430738.1_Missense_Mutation_p.Q250E|C7orf57_ENST00000420324.1_Intron|C7orf57_ENST00000435376.1_Intron	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	205										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AAGGCCTGGTCAAAAAAACAG	0.408													5	99					0	0	0	0	G	48092304	C	G	48092304	3	3	209	1	0	0	0	0	1	0	0	0	2427	827	29	2	635	2	C7orf57	7	48092304	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	4560558	48092304	111046359	97	37116											
FIGNL1	63979	broad.mit.edu	37	chr7	50513306	50513306	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggaatataaagccttttCaccaatcttctccgggcagc	11	10	9	11	1	3	0	1	0	2	0	4	1	3	1	3	3	2	1	3	3	5	5	rs143012740		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:50513306C>T	ENST00000419119.1	-	2	3233	c.1680G>A	c.(1678-1680)gtG>gtA	p.V560V	FIGNL1_ENST00000395556.2_Silent_p.V560V|FIGNL1_ENST00000433017.1_Silent_p.V560V|FIGNL1_ENST00000356889.4_Silent_p.V560V			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	560					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AAAGCCTTTTCACCAATCTTC	0.433													4	92					0	0	0	0	T	50513306	C	T	50513306	2	4	209	1	0	0	0	0	0	0	0	1	5937	813	29	2		2	FIGNL1	7	50513306	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	2421002	50513306	108625357	98	37117											
CCDC146	57639	broad.mit.edu	37	chr7	76924175	76924175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctgttataaagccagttGaaatctgaatatgtgaacaa	17	11	7	6	0	1	3	0	3	1	0	1	3	1	3	2	0	3	2	2	0	9	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:76924175G>C	ENST00000285871.4	+	19	2987	c.2860G>C	c.(2860-2862)Gaa>Caa	p.E954Q	CCDC146_ENST00000431197.1_Missense_Mutation_p.E668Q|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	954										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAAGCCAGTTGAAATCTGAAT	0.413													4	27					0	0	0	0	C	76924175	G	C	76924175	3	2	209	1	0	0	0	0	1	0	0	0	2805	1291	45	2	2930	2	CCDC146	7	76924175	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	26410869	76924175	82214488	99	37118											
GRM3	2913	broad.mit.edu	37	chr7	86468876	86468876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctcagaggccaaaattCatcagccccagttctcaggt	10	8	10	13	1	4	1	4	0	1	1	5	1	4	1	3	3	1	2	3	3	2	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:86468876C>A	ENST00000361669.2	+	4	3145	c.2046C>A	c.(2044-2046)ttC>ttA	p.F682L	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.F554L|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.F274L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	682					synaptic transmission	integral to plasma membrane		p.F682L(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGCCAAAATTCATCAGCCCCA	0.542													18	71					2.35188e-11	2.54406e-11	1	0	A	86468876	C	A	86468876	3	1	209	1	0	0	0	0	1	0	0	0	6848	825	29	2	2056	2	GRM3	7	86468876	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	9544701	86468876	72669787	100	37119											
C7orf63	79846	broad.mit.edu	37	chr7	89939442	89939442	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgattagtaggaggacctCtggttgatacggatattgct	9	12	12	8	2	1	1	0	1	1	0	1	5	1	4	2	4	2	3	2	4	4	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:89939442C>T	ENST00000389297.4	+	23	2967	c.2716C>T	c.(2716-2718)Ctg>Ttg	p.L906L	C7orf63_ENST00000497910.1_Silent_p.L888L|C7orf63_ENST00000316089.8_Silent_p.L860L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	906							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AGGAGGACCTCTGGTTGATAC	0.433													6	74					0	0	0	0	T	89939442	C	T	89939442	2	4	209	1	0	0	0	0	0	0	0	1	2432	912	32	2		2	C7orf63	7	89939442	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	3470566	89939442	69199221	101	37120											
HBP1	26959	broad.mit.edu	37	chr7	106826264	106826264	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatcatctcctgtacacatCatagccactagcaaaagttt	14	11	5	11	0	3	1	2	0	1	1	4	1	3	1	2	0	3	3	2	0	5	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:106826264C>T	ENST00000222574.4	+	4	603	c.417C>T	c.(415-417)atC>atT	p.I139I	HBP1_ENST00000485846.1_Silent_p.I139I|HBP1_ENST00000468410.1_Silent_p.I139I	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	139					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CTGTACACATCATAGCCACTA	0.403													18	133					0	0	0	0	T	106826264	C	T	106826264	2	4	209	1	0	0	0	0	0	0	0	1	7035	816	29	2		2	HBP1	7	106826264	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	16886822	106826264	52312399	102	37121											
RBM28	55131	broad.mit.edu	37	chr7	127961459	127961459	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctggtccttgagtttctGatgcttcagcagctcaaact	8	15	8	10	0	4	2	2	2	2	0	5	2	5	2	1	1	4	4	1	1	1	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:127961459G>C	ENST00000223073.1	-	14	1537	c.1423C>G	c.(1423-1425)Cag>Gag	p.Q475E	RBM28_ENST00000415472.2_Missense_Mutation_p.Q334E|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	475					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTGAGTTTCTGATGCTTCAGC	0.433													6	47					0	0	0	0	C	127961459	G	C	127961459	3	2	209	1	0	0	0	0	1	0	0	0	13210	1299	45	2	880	2	RBM28	7	127961459	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	21135195	127961459	31177204	103	37122											
CNTNAP2	26047	broad.mit.edu	37	chr7	146536831	146536831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatggtctccatcagacagCgaccattatcaatggcttca	11	10	9	11	1	4	1	3	0	1	1	5	3	4	2	2	3	1	1	2	3	2	2	rs145162968		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:146536831C>T	ENST00000361727.3	+	3	753	c.237C>T	c.(235-237)agC>agT	p.S79S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	79	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CATCAGACAGCGACCATTATC	0.448										HNSCC(39;0.1)			11	54					0	0	0	0	T	146536831	C	T	146536831	2	4	209	1	0	0	0	0	0	0	0	1	3677	767	27	1		1	CNTNAP2	7	146536831	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	18575372	146536831	12601832	104	37123											
CNTNAP2	26047	broad.mit.edu	37	chr7	147869376	147869376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcctgggctgcatccgctCcttgaggatgaatggggtga	6	11	14	10	1	0	3	0	3	0	0	3	4	3	4	3	4	1	3	3	4	1	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:147869376C>T	ENST00000361727.3	+	18	3332	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	939	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCATCCGCTCCTTGAGGATG	0.542										HNSCC(39;0.1)			10	65					0	0	0	0	T	147869376	C	T	147869376	3	4	209	1	0	0	0	0	1	0	0	0	3677	855	30	2	2886	2	CNTNAP2	7	147869376	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	1332545	147869376	11269287	105	37124											
PIWIL2	55124	broad.mit.edu	37	chr8	22167484	22167484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtttagattgaaggacGtgttctgccaatggaaagaa	12	13	11	5	1	2	3	0	1	2	2	2	5	2	5	1	2	1	2	1	2	5	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:22167484G>A	ENST00000356766.6	+	15	1845	c.1697G>A	c.(1696-1698)cGt>cAt	p.R566H	PIWIL2_ENST00000454009.2_Missense_Mutation_p.R566H|PIWIL2_ENST00000521356.1_Missense_Mutation_p.R566H	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	566					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATTGAAGGACGTGTTCTGCCA	0.383													6	49					0	0	0	0	A	22167484	G	A	22167484	3	1	209	1	0	0	0	0	1	0	0	0	12030	1145	40	1	1751	1	PIWIL2	8	22167484	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08		22167484	124196538	106	37125											
PLAT	5327	broad.mit.edu	37	chr8	42038171	42038171	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctcctttgatgcgaaactGaggctggctgtactgtctca	7	12	10	12	1	1	2	1	2	1	0	3	3	2	2	2	2	3	3	2	2	2	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:42038171G>A	ENST00000220809.4	-	10	1178	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	PLAT_ENST00000429089.2_Nonsense_Mutation_p.Q308*|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000524009.1_Nonsense_Mutation_p.Q219*|PLAT_ENST00000352041.3_Nonsense_Mutation_p.Q262*|PLAT_ENST00000429710.2_Nonsense_Mutation_p.Q182*|PLAT_ENST00000519510.1_Nonsense_Mutation_p.Q245*	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	308					blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATGCGAAACTGAGGCTGGCTG	0.632													8	35					0	0	0	0	A	42038171	G	A	42038171	4	1	209	1	0	0	0	0	0	1	0	0	12093	1299	45	2	786	2	PLAT	8	42038171	Nonsense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	19870687	42038171	104325851	107	37126											
PRKDC	5591	broad.mit.edu	37	chr8	48842538	48842538	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgagtacacccatggttCaaaaaattctgcttgtttct	13	14	6	8	0	3	1	1	1	2	0	3	1	3	1	1	1	2	4	1	1	5	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:48842538C>A	ENST00000314191.2	-	18	1983	c.1927G>T	c.(1927-1929)Gaa>Taa	p.E643*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E643*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	643					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACCCATGGTTCAAAAAATTCT	0.318								Non-homologous end-joining					5	80					5.9392e-07	6.35038e-07	1	0	A	48842538	C	A	48842538	4	1	209	1	0	0	0	0	0	1	0	0	12601	835	29	2	10734	2	PRKDC	8	48842538	Nonsense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	6804367	48842538	97521484	108	37127											
RGS20	8601	broad.mit.edu	37	chr8	54866838	54866838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaagcaaggataatctatGaagactacatttctatactt	17	12	6	6	0	2	3	0	1	2	2	2	4	2	4	0	1	3	1	0	1	8	7			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:54866838G>A	ENST00000297313.3	+	5	1038	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	RGS20_ENST00000522225.1_Missense_Mutation_p.E50K|RGS20_ENST00000344277.6_Missense_Mutation_p.E201K|RGS20_ENST00000276500.4_Missense_Mutation_p.E169K|RGS20_ENST00000517405.1_3'UTR	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	316	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GATAATCTATGAAGACTACAT	0.378													6	47					0	0	0	0	A	54866838	G	A	54866838	3	1	209	1	0	0	0	0	1	0	0	0	13386	1291	45	2	1037	2	RGS20	8	54866838	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	6024300	54866838	91497184	109	37128											
RUNX1T1	862	broad.mit.edu	37	chr8	92972554	92972554	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtggtgtgtccatcgggctCccagccccgctgttgggcgt	2	10	16	13	3	0	0	0	0	0	0	3	0	2	0	4	4	1	3	4	4	0	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:92972554C>T	ENST00000523629.1	-	12	2185	c.1731G>A	c.(1729-1731)ggG>ggA	p.G577G	RUNX1T1_ENST00000265814.3_Silent_p.G577G|RUNX1T1_ENST00000436581.2_Silent_p.G588G|RUNX1T1_ENST00000360348.2_Silent_p.G540G|RUNX1T1_ENST00000422361.2_Silent_p.G540G|RUNX1T1_ENST00000520724.1_Silent_p.G540G|RUNX1T1_ENST00000518844.1_Silent_p.G550G|RUNX1T1_ENST00000396218.1_Silent_p.G550G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	577					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)			CCATCGGGCTCCCAGCCCCGC	0.622													8	39					0	0	0	0	T	92972554	C	T	92972554	2	4	209	1	0	0	0	0	0	0	0	1	13832	842	30	2		2	RUNX1T1	8	92972554	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	38105716	92972554	53391468	110	37129											
HAS2	3037	broad.mit.edu	37	chr8	122626424	122626424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgagaactacatacagCgtcaaaagcatgacccaata	17	8	7	9	1	1	3	1	3	0	1	1	4	1	3	1	0	5	1	1	0	7	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:122626424C>T	ENST00000303924.4	-	4	2121	c.1584G>A	c.(1582-1584)acG>acA	p.T528T		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	528						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTACATACAGCGTCAAAAGCA	0.408													14	84					0	0	0	0	T	122626424	C	T	122626424	2	4	209	1	0	0	0	0	0	0	0	1	7012	755	27	1		1	HAS2	8	122626424	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	29653870	122626424	23737598	111	37130											
PUF60	22827	broad.mit.edu	37	chr8	144899260	144899260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctggccaggatggggttCaccactcccaccgaggggat	7	6	16	12	1	1	0	1	0	0	0	2	3	2	2	4	7	0	2	4	7	0	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:144899260C>T	ENST00000526683.1	-	11	1755	c.1200G>A	c.(1198-1200)gtG>gtA	p.V400V	PUF60_ENST00000456095.2_Silent_p.V371V|PUF60_ENST00000453551.2_Silent_p.V357V|PUF60_ENST00000349157.6_Silent_p.V383V|PUF60_ENST00000313352.7_Silent_p.V340V|PUF60_ENST00000527197.1_Silent_p.V354V|PUF60_ENST00000524570.1_5'UTR	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	400	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGATGGGGTTCACCACTCCCA	0.622													3	25					0	0	0	0	T	144899260	C	T	144899260	2	4	209	1	0	0	0	0	0	0	0	1	12906	813	29	2		2	PUF60	8	144899260	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	22272836	144899260	1464762	112	37131											
KIAA2026	158358	broad.mit.edu	37	chr9	5921788	5921788	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatggtagtagagtactaGaacaaatagaggacttcaag	16	10	11	4	0	1	4	1	1	0	3	1	5	1	5	0	2	2	3	0	2	8	7			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr9:5921788G>C	ENST00000399933.3	-	8	4207	c.4208C>G	c.(4207-4209)tCt>tGt	p.S1403C	KIAA2026_ENST00000381461.2_Missense_Mutation_p.S1373C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1403	Ser-rich.							p.S1403Y(1)|p.S578Y(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TAGAGTACTAGAACAAATAGA	0.393													15	92					0	0	0	0	C	5921788	G	C	5921788	3	2	209	1	0	0	0	0	1	0	0	0	8321	942	33	2	2107	2	KIAA2026	9	5921788	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08		5921788	135291643	113	37132											
CDKN2A	1029	broad.mit.edu	37	chr9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtccacgggcagacggccCcaggcatcgcgcacgtccag	8	3	14	16	5	0	1	0	0	0	1	3	1	2	1	4	4	0	3	4	4	0	0	rs121913389		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	23					0	0	0	0	T	21971028	C	T	21971028	4	4	209	1	0	0	0	0	0	1	0	0	3190	624	22	4	148	4	CDKN2A	9	21971028	Nonsense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	16049240	21971028	119242403	114	37133											
TLN1	7094	broad.mit.edu	37	chr9	35698089	35698089	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaccaccactgtctcattCtcctgctcttcaaaggctgc	7	13	5	16	0	5	0	3	0	3	0	7	0	5	0	3	1	2	2	3	1	1	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr9:35698089C>G	ENST00000314888.9	-	56	7805	c.7452G>C	c.(7450-7452)gaG>gaC	p.E2484D	TLN1_ENST00000540444.1_Missense_Mutation_p.E2372D	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2484	I/LWEQ.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGTCTCATTCTCCTGCTCTT	0.562													15	93					0	0	0	0	G	35698089	C	G	35698089	3	3	209	1	0	0	0	0	1	0	0	0	16041	912	32	2	181	2	TLN1	9	35698089	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	13727061	35698089	105515342	115	37134											
KIAA1958	158405	broad.mit.edu	37	chr9	115422154	115422154	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggaggccaagtcccccttCtacctgactgccaggaagga	10	7	11	13	0	1	1	0	1	1	0	2	4	2	4	5	4	2	0	5	4	3	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr9:115422154C>T	ENST00000337530.6	+	4	2252	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	KIAA1958_ENST00000536272.1_Silent_p.F680F	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	652										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGTCCCCCTTCTACCTGACTG	0.577													6	35					0	0	0	0	T	115422154	C	T	115422154	2	4	209	1	0	0	0	0	0	0	0	1	8315	912	32	2		2	KIAA1958	9	115422154	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	79724065	115422154	25791277	116	37135											
LCN6	158062	broad.mit.edu	37	chr9	139639631	139639631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcacacttactgtacagctCcacggtgttgaagggctcgt	9	10	11	11	2	0	1	0	1	0	0	2	1	1	1	1	2	4	5	1	2	3	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr9:139639631C>T	ENST00000435202.1	-	4	372	c.373G>A	c.(373-375)Gag>Aag	p.E125K	LCN6_ENST00000471509.1_5'UTR|LCN6_ENST00000480584.1_5'UTR|LCN6_ENST00000341206.4_Missense_Mutation_p.E135K|LCN6_ENST00000476567.1_Missense_Mutation_p.E50K			P62502	LCN6_HUMAN	lipocalin 6	135					single fertilization	extracellular region	binding			lung(3)|upper_aerodigestive_tract(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CTGTACAGCTCCACGGTGTTG	0.627													10	51					0	0	0	0	T	139639631	C	T	139639631	3	4	209	1	0	0	0	0	1	0	0	0	8738	864	30	2	96	2	LCN6	9	139639631	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	24217477	139639631	1573800	117	37136											
CUBN	8029	broad.mit.edu	37	chr10	17164832	17164832	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaacacatgtgcctccattCtggcagctcaagggtgttcc	8	12	9	12	0	2	0	1	0	1	0	4	0	4	0	3	2	3	3	3	2	2	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:17164832C>G	ENST00000377833.4	-	6	620	c.555G>C	c.(553-555)caG>caC	p.Q185H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	185	EGF-like 2; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCCTCCATTCTGGCAGCTCA	0.383													12	45					0	0	0	0	G	17164832	C	G	17164832	3	3	209	1	0	0	0	0	1	0	0	0	4083	912	32	2	10564	2	CUBN	10	17164832	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08		17164832	118369915	118	37137											
KIAA1462	57608	broad.mit.edu	37	chr10	30317105	30317105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggtcatttgtttgtctgtCttcttctggttcccctagat	4	19	9	9	0	5	1	1	0	4	1	6	2	6	1	2	2	0	2	2	2	1	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:30317105C>G	ENST00000375377.1	-	3	2073	c.1972G>C	c.(1972-1974)Gac>Cac	p.D658H		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	658										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTTTGTCTGTCTTCTTCTGGT	0.517													8	51					0	0	0	0	G	30317105	C	G	30317105	3	3	209	1	0	0	0	0	1	0	0	0	8285	913	32	2	2115	2	KIAA1462	10	30317105	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	13152273	30317105	105217642	119	37138											
MTPAP	55149	broad.mit.edu	37	chr10	30653930	30653932	+	In_Frame_Del	DEL	TCC	TCC	-																															cctgggccagcctgatgatgTcctcctcctcctggtgccgc																										TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:30653930_30653932delTCC	ENST00000358107.4	-	2	249_251	c.250_252delGGA	c.(250-252)del	p.G84del	MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCTGATGATGTCCTCCTCCTCCT	0.635													7	28	---	---	---	---					-	30653932	TCC	-	30653930	7	5	209	1	0	1	0	1	0	0	0	0	10026	1682	58	0		0	MTPAP	10	30653930	In_Frame_Del	DEL	TCC	TCGA-CR-7386-01A-11D-2012-08	336825	30653930	104880817	120	37139											
P4HA1	5033	broad.mit.edu	37	chr10	74803657	74803657	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccttacctcttagatactCtgtactgtgctgtggtcaat	7	16	7	11	0	3	1	1	0	2	1	4	1	4	1	2	1	4	2	2	1	5	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:74803657C>G	ENST00000263556.3	-	9	1376	c.1136G>C	c.(1135-1137)aGa>aCa	p.R379T	P4HA1_ENST00000373008.2_Missense_Mutation_p.R379T|P4HA1_ENST00000307116.2_Intron|P4HA1_ENST00000394890.2_Intron|P4HA1_ENST00000412021.2_Intron|P4HA1_ENST00000440381.1_Missense_Mutation_p.R379T	NM_000917.3	NP_000908.2	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	379						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTTAGATACTCTGTACTGTGC	0.398													33	233					0	0	0	0	G	74803657	C	G	74803657	3	3	209	1	0	0	0	0	1	0	0	0	11427	913	32	2	496	2	P4HA1	10	74803657	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	44149727	74803657	60731090	121	37140											
GRID1	2894	broad.mit.edu	37	chr10	87487785	87487785	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctgtcctaggatgttctCagccaccatcacgaaaggct	9	9	11	12	1	2	0	2	0	1	0	4	2	3	1	3	3	1	3	3	3	2	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:87487785C>G	ENST00000327946.7	-	10	1445	c.1360G>C	c.(1360-1362)Gag>Cag	p.E454Q	GRID1_ENST00000536331.1_Missense_Mutation_p.E25Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	454						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGGATGTTCTCAGCCACCATC	0.448										Multiple Myeloma(13;0.14)			17	156					0	0	0	0	G	87487785	C	G	87487785	3	3	209	1	0	0	0	0	1	0	0	0	6821	835	29	2	1697	2	GRID1	10	87487785	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	12684128	87487785	48046962	122	37141											
FAM35A	54537	broad.mit.edu	37	chr10	88946848	88946848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactcttttgtaggccagcGttaatgactgccattgatgg	8	15	10	8	1	1	2	0	2	1	0	1	2	1	2	2	2	3	2	2	2	3	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:88946848G>A	ENST00000298786.4	+	9	2520	c.2406G>A	c.(2404-2406)gcG>gcA	p.A802A	FAM35A_ENST00000298784.1_Silent_p.A733A			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	733										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GTAGGCCAGCGTTAATGACTG	0.353													4	44					0	0	0	0	A	88946848	G	A	88946848	2	1	209	1	0	0	0	0	0	0	0	1	5600	1132	40	1		1	FAM35A	10	88946848	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	1459063	88946848	46587899	123	37142											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362900	105362900	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgttgatggtgatggatGaggaaaaggaggctgaggag	11	9	20	1	0	0	4	0	4	0	0	0	8	0	8	0	7	0	2	0	7	2	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:105362900G>C	ENST00000369774.4	-	15	2351	c.2075C>G	c.(2074-2076)tCa>tGa	p.S692*	SH3PXD2A_ENST00000538130.1_Nonsense_Mutation_p.S527*|SH3PXD2A_ENST00000540321.1_Nonsense_Mutation_p.S559*|SH3PXD2A_ENST00000355946.2_Nonsense_Mutation_p.S664*|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	692	Ser-rich.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGTGATGGATGAGGAAAAGGA	0.542													26	144					0	0	0	0	C	105362900	G	C	105362900	4	2	209	1	0	0	0	0	0	1	0	0	14344	1294	45	2	1330	2	SH3PXD2A	10	105362900	Nonsense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	16416052	105362900	30171847	124	37143											
COL17A1	1308	broad.mit.edu	37	chr10	105814753	105814753	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattacctttagggcctggaCttcccatgtcacctgaaacc	10	11	7	13	0	1	1	1	1	0	0	2	2	2	2	5	2	2	0	5	2	4	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:105814753C>G	ENST00000353479.5	-	20	2020	c.1730G>C	c.(1729-1731)aGt>aCt	p.S577T	COL17A1_ENST00000369733.3_Missense_Mutation_p.S577T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	577	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGGCCTGGACTTCCCATGTC	0.383													3	26					0	0	0	0	G	105814753	C	G	105814753	3	3	209	1	0	0	0	0	1	0	0	0	3704	565	20	4	2911	4	COL17A1	10	105814753	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	451853	105814753	29719994	125	37144											
BTBD16	118663	broad.mit.edu	37	chr10	124097537	124097537	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttcatgttttagaccttGaaaatccaaactgtgggcat	11	16	7	7	0	1	2	1	1	0	1	2	2	2	2	2	1	1	2	2	1	4	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:124097537G>C	ENST00000368994.2	+	16	1712	c.1461G>C	c.(1459-1461)ttG>ttC	p.L487F	BTBD16_ENST00000260723.4_Missense_Mutation_p.L486F			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	486										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTTAGACCTTGAAAATCCAAA	0.403													6	38					0	0	0	0	C	124097537	G	C	124097537	3	2	209	1	0	0	0	0	1	0	0	0	1549	1281	45	2	1516	2	BTBD16	10	124097537	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	18282784	124097537	11437210	126	37145											
DUSP8	1850	broad.mit.edu	37	chr11	1579116	1579116	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgccagccagacagtggacGatgacttggcagctggagag	11	6	15	9	1	0	3	0	1	0	2	0	6	0	4	2	3	3	2	2	3	0	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:1579116G>A	ENST00000397374.3	-	6	856	c.729C>T	c.(727-729)atC>atT	p.I243I	DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Silent_p.I243I	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	243	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GACAGTGGACGATGACTTGGC	0.617													13	60					0	0	0	0	A	1579116	G	A	1579116	2	1	209	1	0	0	0	0	0	0	0	1	4867	1048	37	1		1	DUSP8	11	1579116	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08		1579116	133427400	127	37146											
TRIM68	55128	broad.mit.edu	37	chr11	4622349	4622349	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggctgctgcaagctccaaGatttgctcctggtagaggag	8	10	13	10	0	0	2	0	0	0	2	2	3	2	3	2	3	4	6	2	3	3	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:4622349G>C	ENST00000300747.5	-	6	1104	c.815C>G	c.(814-816)tCt>tGt	p.S272C		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	272					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	p.S272F(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAAGCTCCAAGATTTGCTCCT	0.547													12	95					0	0	0	0	C	4622349	G	C	4622349	3	2	209	1	0	0	0	0	1	0	0	0	16636	942	33	2	650	2	TRIM68	11	4622349	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	3043233	4622349	130384167	128	37147											
OR52E2	119678	broad.mit.edu	37	chr11	5080352	5080352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttacatgattcccacagaagGgcaaccgcaatataagaagt	16	8	8	9	1	0	3	0	1	0	2	1	3	1	3	2	1	2	2	2	1	7	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:5080352G>A	ENST00000321522.2	-	1	505	c.506C>T	c.(505-507)cCc>cTc	p.P169L		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCACAGAAGGGCAACCGCAA	0.418													3	24					0	0	0	0	A	5080352	G	A	5080352	3	1	209	1	0	0	0	0	1	0	0	0	11186	1232	43	4	474	4	OR52E2	11	5080352	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	458003	5080352	129926164	129	37148											
OR56A1	120796	broad.mit.edu	37	chr11	6048851	6048851	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagagccagtgctgccaactCtggaagttggggaagcagat	11	7	15	8	0	1	2	0	0	1	2	1	5	1	4	2	3	5	3	2	3	3	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:6048851C>G	ENST00000316650.5	-	1	120	c.84G>C	c.(82-84)caG>caC	p.Q28H		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGCCAACTCTGGAAGTTGG	0.577													7	111					0	0	0	0	G	6048851	C	G	6048851	3	3	209	1	0	0	0	0	1	0	0	0	11204	912	32	2	876	2	OR56A1	11	6048851	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	968499	6048851	128957665	130	37149											
ANO5	203859	broad.mit.edu	37	chr11	22301307	22301307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctggctaaatcaacacTctaatcagtatagtgaggaa	16	9	8	8	0	3	1	2	1	1	0	3	2	3	2	0	2	2	3	0	2	7	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:22301307T>C	ENST00000324559.8	+	22	3055	c.2738T>C	c.(2737-2739)cTc>cCc	p.L913P		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	913						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAATCAACACTCTAATCAGTA	0.408													5	22					0	0	0	0	C	22301307	T	C	22301307	3	2	209	1	0	0	0	0	1	0	0	0	699	1551	54	5	2824	5	ANO5	11	22301307	Missense_Mutation	SNP	T	TCGA-CR-7386-01A-11D-2012-08	16252456	22301307	112705209	131	37150											
TTC17	55761	broad.mit.edu	37	chr11	43436245	43436245	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattaaccaccaaatgtccaGagtgtgaaaacagcctgaag	17	7	8	9	0	0	3	0	2	0	1	1	3	1	3	4	0	3	0	4	0	6	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:43436245G>C	ENST00000039989.4	+	16	2184	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.E724Q	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	724							binding	p.E724Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAAATGTCCAGAGTGTGAAAA	0.438													9	91					0	0	0	0	C	43436245	G	C	43436245	3	2	209	1	0	0	0	0	1	0	0	0	16780	943	33	2	2232	2	TTC17	11	43436245	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	21134938	43436245	91570271	132	37151											
PYGM	5837	broad.mit.edu	37	chr11	64521767	64521767	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtccaccaggatcctcatCagctcggggatggccaggga	9	6	14	12	1	2	0	2	0	0	0	5	3	4	3	4	6	1	1	4	6	0	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:64521767C>G	ENST00000164139.3	-	9	1448	c.1050G>C	c.(1048-1050)ctG>ctC	p.L350L	PYGM_ENST00000377432.3_Silent_p.L262L	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	350					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGATCCTCATCAGCTCGGGGA	0.632													5	66					0	0	0	0	G	64521767	C	G	64521767	2	3	209	1	0	0	0	0	0	0	0	1	12944	813	29	2		2	PYGM	11	64521767	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	21085522	64521767	70484749	133	37152											
SF3B2	10992	broad.mit.edu	37	chr11	65829169	65829169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccctcaggggaaggagttcGagacacgactgaaggagaag	13	5	15	8	2	1	3	1	1	0	2	3	8	2	5	1	4	0	1	1	4	3	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:65829169G>A	ENST00000528302.1	+	14	1795	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	SF3B2_ENST00000322535.6_Missense_Mutation_p.E598K			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	598					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GAAGGAGTTCGAGACACGACT	0.498													8	35					0	0	0	0	A	65829169	G	A	65829169	3	1	209	1	0	0	0	0	1	0	0	0	14238	1059	37	1	1850	1	SF3B2	11	65829169	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	1307402	65829169	69177347	134	37153											
DPP3	10072	broad.mit.edu	37	chr11	66272236	66272236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcattgttcagcccaacactCgccttgaaggtaatgaggta	11	11	9	10	1	2	2	2	2	0	0	3	2	2	2	2	2	2	3	2	2	4	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:66272236C>T	ENST00000532677.1	+	17	2490	c.2089C>T	c.(2089-2091)Cgc>Tgc	p.R697C	DPP3_ENST00000360510.2_Missense_Mutation_p.R678C|DPP3_ENST00000453114.1_Missense_Mutation_p.R678C|DPP3_ENST00000541961.1_Missense_Mutation_p.R678C|DPP3_ENST00000531863.1_Missense_Mutation_p.R698C|DPP3_ENST00000530165.1_Missense_Mutation_p.R648C	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	678				I -> Y (in Ref. 4; BAA75785).	proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCCCAACACTCGCCTTGAAGG	0.567													19	101					0	0	0	0	T	66272236	C	T	66272236	3	4	209	1	0	0	0	0	1	0	0	0	4764	884	31	1	2094	1	DPP3	11	66272236	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	443067	66272236	68734280	135	37154											
CTSF	8722	broad.mit.edu	37	chr11	66335085	66335085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgggccacagtccttccGcagcagcacgtgtcttccga	7	8	10	16	3	1	0	0	0	1	0	4	1	4	0	4	1	2	3	4	1	0	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:66335085G>A	ENST00000310325.5	-	3	470	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	121					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTCCTTCCGCAGCAGCACG	0.592													12	135					0	0	0	0	A	66335085	G	A	66335085	3	1	209	1	0	0	0	0	1	0	0	0	4066	1086	38	1	1137	1	CTSF	11	66335085	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	62849	66335085	68671431	136	37155											
APOA5	116519	broad.mit.edu	37	chr11	116662530	116662530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagggtcggagacccacctGaaagaagagccagagcccag	13	3	13	12	1	1	5	1	1	0	4	2	6	1	5	4	2	2	0	4	2	2	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:116662530G>A	ENST00000542499.1	-	2	119	c.47C>T	c.(46-48)tCa>tTa	p.S16L	APOA5_ENST00000227665.4_Missense_Mutation_p.S16L	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	16					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		AGACCCACCTGAAAGAAGAGC	0.632											OREG0003485|OREG0021366	type=REGULATORY REGION|Gene=APOA5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	30					0	0	0	0	A	116662530	G	A	116662530	3	1	209	1	0	0	0	0	1	0	0	0	786	1294	45	2	1065	2	APOA5	11	116662530	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	50327445	116662530	18343986	137	37156											
ABCG4	64137	broad.mit.edu	37	chr11	119025544	119025544	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgaggacagccctgctctCtggcgggcagaggaagcgtc	8	5	15	13	3	1	1	0	0	1	1	3	4	1	3	1	4	3	2	1	4	1	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:119025544C>G	ENST00000307417.3	+	6	969	c.605C>G	c.(604-606)tCt>tGt	p.S202C	ABCG4_ENST00000531739.1_Missense_Mutation_p.S202C|ABCG4_ENST00000449422.2_Missense_Mutation_p.S202C	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	202	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.S202Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCCCTGCTCTCTGGCGGGCAG	0.622													17	142					0	0	0	0	G	119025544	C	G	119025544	3	3	209	1	0	0	0	0	1	0	0	0	70	913	32	2	623	2	ABCG4	11	119025544	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	2363014	119025544	15980972	138	37157											
OR8B4	283162	broad.mit.edu	37	chr11	124294739	124294739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccacaaggataaactcaGtcactgaggagctgtttctc	12	10	8	11	0	3	1	2	1	1	0	5	3	4	3	1	2	2	2	1	2	3	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:124294739G>A	ENST00000356130.3	-	1	50	c.29C>T	c.(28-30)aCt>aTt	p.T10I		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GATAAACTCAGTCACTGAGGA	0.488													6	45					0	0	0	0	A	124294739	G	A	124294739	3	1	209	1	0	0	0	0	1	0	0	0	11300	1029	36	4	902	4	OR8B4	11	124294739	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	5269195	124294739	10711777	139	37158											
C12orf5	57103	broad.mit.edu	37	chr12	4459054	4459054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaagtatgactcaagacttCgggaaagggtgagtaactta	15	10	11	5	1	1	3	1	2	0	1	2	4	1	4	0	2	1	2	0	2	7	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:4459054C>T	ENST00000179259.4	+	4	329	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	88						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)			CTCAAGACTTCGGGAAAGGGT	0.353													8	27					0	0	0	0	T	4459054	C	T	4459054	3	4	209	1	0	0	0	0	1	0	0	0	1706	875	31	1	276	1	C12orf5	12	4459054	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08		4459054	129392841	140	37159											
PCBP2	5094	broad.mit.edu	37	chr12	53849783	53849783	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcattgacaaactggaaGaggtttgttgtctcccactc	10	13	9	9	0	2	3	1	2	1	1	4	4	2	4	1	2	1	2	1	2	2	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:53849783G>T	ENST00000603815.1	+	5	591	c.241G>T	c.(241-243)Gag>Tag	p.E81*	PCBP2_ENST00000552819.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000549863.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000437231.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000548933.1_Nonsense_Mutation_p.E81*|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000546463.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000552296.2_Nonsense_Mutation_p.E81*|PCBP2_ENST00000447282.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000541275.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000439930.3_Nonsense_Mutation_p.E81*|PCBP2_ENST00000359462.5_Nonsense_Mutation_p.E81*|PCBP2_ENST00000455667.3_Nonsense_Mutation_p.E81*|PCBP2_ENST00000359282.5_Nonsense_Mutation_p.E81*	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	81					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CAAACTGGAAGAGGTTTGTTG	0.413													15	189					2.35188e-11	2.54406e-11	1	0	T	53849783	G	T	53849783	4	4	209	1	0	0	0	0	0	1	0	0	11572	943	33	2	255	2	PCBP2	12	53849783	Nonsense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	49390729	53849783	80002112	141	37160											
GRIP1	23426	broad.mit.edu	37	chr12	66786483	66786483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgtttcttaattttcaagGtgacagtctctcctgccatc	7	17	6	11	0	4	1	1	1	3	0	7	1	5	1	2	1	1	1	2	1	2	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:66786483G>T	ENST00000359742.4	-	18	2483	c.2243C>A	c.(2242-2244)aCc>aAc	p.T748N	GRIP1_ENST00000398016.3_Missense_Mutation_p.T696N|GRIP1_ENST00000286445.7_Missense_Mutation_p.T748N			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	748	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AATTTTCAAGGTGACAGTCTC	0.428													10	94					0.000442599	0.000469628	1	0	T	66786483	G	T	66786483	3	4	209	1	0	0	0	0	1	0	0	0	6837	1261	44	4	1175	4	GRIP1	12	66786483	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	12936700	66786483	67065412	142	37161											
PTPRB	5787	broad.mit.edu	37	chr12	70931979	70931979	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcagagcaaggatcatcatCtacattggagagcttcactc	12	10	9	10	0	5	2	4	0	1	2	6	4	5	3	0	2	3	2	0	2	2	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:70931979C>G	ENST00000334414.6	-	28	5946	c.5902G>C	c.(5902-5904)Gat>Cat	p.D1968H	RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1660H|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1880H|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1660H|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1660H|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1750H	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1750					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D1750Y(2)|p.D1968Y(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGATCATCATCTACATTGGAG	0.478													10	58					0	0	0	0	G	70931979	C	G	70931979	3	3	209	1	0	0	0	0	1	0	0	0	12878	913	32	2	773	2	PTPRB	12	70931979	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	4145496	70931979	62919916	143	37162											
PMCH	5367	broad.mit.edu	37	chr12	102591364	102591364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catttttatattgttccaggGaaggagcaataactgatttt	12	16	8	5	0	0	1	0	1	0	0	1	3	1	3	1	2	2	2	1	2	5	9			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:102591364G>T	ENST00000329406.4	-	1	259	c.185C>A	c.(184-186)tCc>tAc	p.S62Y		NM_002674.2	NP_002665.2	P20382	MCH_HUMAN	pro-melanin-concentrating hormone	62					cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						TTGTTCCAGGGAAGGAGCAAT	0.353													10	39					0.00621372	0.00651854	1	0	T	102591364	G	T	102591364	3	4	209	1	0	0	0	0	1	0	0	0	12203	1174	41	2	324	2	PMCH	12	102591364	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	31659385	102591364	31260531	144	37163											
APPL2	55198	broad.mit.edu	37	chr12	105568151	105568151	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatcatcgtcatctggttGatcgtttaacagtacatatt	10	16	6	9	2	3	1	2	1	1	0	6	1	4	1	1	1	2	3	1	1	3	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:105568151G>A	ENST00000258530.3	-	21	2161	c.1936C>T	c.(1936-1938)Caa>Taa	p.Q646*	APPL2_ENST00000546731.1_Nonsense_Mutation_p.Q89*|APPL2_ENST00000539978.2_Nonsense_Mutation_p.Q603*|APPL2_ENST00000551662.1_Nonsense_Mutation_p.Q652*	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	646					cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCATCTGGTTGATCGTTTAAC	0.453													7	43					0	0	0	0	A	105568151	G	A	105568151	4	1	209	1	0	0	0	0	0	1	0	0	820	1299	45	2	62	2	APPL2	12	105568151	Nonsense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	2976787	105568151	28283744	145	37164											
RIC8B	55188	broad.mit.edu	37	chr12	107245264	107245264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatgtgacaaatcgacctGaagttggctcaactgtgaga	12	9	13	7	1	1	3	1	3	0	1	2	6	1	4	1	2	1	2	1	2	3	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:107245264G>A	ENST00000392837.4	+	7	1349	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	RIC8B_ENST00000392839.2_Missense_Mutation_p.E400K|RIC8B_ENST00000355478.2_Missense_Mutation_p.E360K|RIC8B_ENST00000549643.1_Intron			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	400					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						AAATCGACCTGAAGTTGGCTC	0.448													8	76					0	0	0	0	A	107245264	G	A	107245264	3	1	209	1	0	0	0	0	1	0	0	0	13439	1291	45	2	1224	2	RIC8B	12	107245264	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	1677113	107245264	26606631	146	37165											
RIC8B	55188	broad.mit.edu	37	chr12	107245315	107245315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcgcctcatgacacatgttGaccttggagtcaagcaaatt	11	11	9	10	1	2	2	2	2	0	0	2	3	2	3	2	1	2	2	2	1	2	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:107245315G>A	ENST00000392837.4	+	7	1400	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	RIC8B_ENST00000392839.2_Missense_Mutation_p.D417N|RIC8B_ENST00000355478.2_Missense_Mutation_p.D377N|RIC8B_ENST00000549643.1_Intron			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	417					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GACACATGTTGACCTTGGAGT	0.448													6	68					0	0	0	0	A	107245315	G	A	107245315	3	1	209	1	0	0	0	0	1	0	0	0	13439	1290	45	2	1275	2	RIC8B	12	107245315	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	51	107245315	26606580	147	37166											
ATXN2	6311	broad.mit.edu	37	chr12	111956093	111956093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgaaccagaattcgggttGaaatctgaagtgtgagaagt	13	11	12	5	1	2	5	0	4	2	2	3	6	2	5	1	1	1	1	1	1	5	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:111956093G>A	ENST00000377617.3	-	9	1766	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	ATXN2_ENST00000550104.1_Silent_p.F535F|ATXN2_ENST00000389153.4_Silent_p.F270F|ATXN2_ENST00000542287.2_Silent_p.F270F|ATXN2_ENST00000535949.1_Silent_p.F246F	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	535					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AATTCGGGTTGAAATCTGAAG	0.423													15	73					0	0	0	0	A	111956093	G	A	111956093	2	1	209	1	0	0	0	0	0	0	0	1	1215	1281	45	2		2	ATXN2	12	111956093	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	4710778	111956093	21895802	148	37167											
MED13L	23389	broad.mit.edu	37	chr12	116429339	116429339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcccgacatccgcccctttGatgttcatgttgcaggcaca	8	10	9	14	2	1	1	1	1	0	0	2	2	2	1	4	1	2	4	4	1	0	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:116429339G>C	ENST00000281928.3	-	17	3626	c.3420C>G	c.(3418-3420)atC>atG	p.I1140M		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1140					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCGCCCCTTTGATGTTCATGT	0.473													16	70					0	0	0	0	C	116429339	G	C	116429339	3	2	209	1	0	0	0	0	1	0	0	0	9500	1280	45	2	3272	2	MED13L	12	116429339	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	4473246	116429339	17422556	149	37168											
AKAP11	11215	broad.mit.edu	37	chr13	42873613	42873613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagctctggacagcagaagtCattggctaaaccctcaactt	12	10	8	11	0	3	1	2	0	1	1	3	2	3	2	1	2	4	3	1	2	5	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr13:42873613C>T	ENST00000025301.2	+	8	906	c.731C>T	c.(730-732)tCa>tTa	p.S244L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	244	Ser-rich.				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CAGCAGAAGTCATTGGCTAAA	0.443													15	56					0	0	0	0	T	42873613	C	T	42873613	3	4	209	1	0	0	0	0	1	0	0	0	447	838	29	2	753	2	AKAP11	13	42873613	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08		42873613	72296265	150	37169											
PCDH17	27253	broad.mit.edu	37	chr13	58208221	58208221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcctactctatcctgccctCgcacatcggcgacgtgtcta	7	11	7	16	4	2	0	0	0	2	0	6	1	4	0	3	1	2	1	3	1	3	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr13:58208221C>T	ENST00000377918.3	+	1	1567	c.1541C>T	c.(1540-1542)tCg>tTg	p.S514L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	514	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S514L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATCCTGCCCTCGCACATCGGC	0.592													8	39					0	0	0	0	T	58208221	C	T	58208221	3	4	209	1	0	0	0	0	1	0	0	0	11583	893	31	1	1543	1	PCDH17	13	58208221	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	15334608	58208221	56961657	151	37170											
RNF219	79596	broad.mit.edu	37	chr13	79209281	79209281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcaacttcagccttcagtCgtaaattctccctcaccaga	11	12	4	14	1	5	1	4	0	1	1	7	1	5	1	3	0	2	1	3	0	4	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr13:79209281C>T	ENST00000282003.6	-	5	660	c.602G>A	c.(601-603)cGa>cAa	p.R201Q		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	201							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGCCTTCAGTCGTAAATTCTC	0.343													7	50					0	0	0	0	T	79209281	C	T	79209281	3	4	209	1	0	0	0	0	1	0	0	0	13567	884	31	1	1586	1	RNF219	13	79209281	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	21001060	79209281	35960597	152	37171											
GPC6	10082	broad.mit.edu	37	chr13	94938726	94938726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaacagcatgcaggtgtCtgcaaaggtatttgcattag	14	10	11	6	0	1	1	0	0	1	1	1	1	1	1	0	2	5	5	0	2	5	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr13:94938726C>A	ENST00000377047.4	+	5	1616	c.1001C>A	c.(1000-1002)tCt>tAt	p.S334Y		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	334						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ATGCAGGTGTCTGCAAAGGTA	0.418													5	41					0.00116845	0.00123041	1	0	A	94938726	C	A	94938726	3	1	209	1	0	0	0	0	1	0	0	0	6651	913	32	2	1019	2	GPC6	13	94938726	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	15729445	94938726	20231152	153	37172											
CDH24	64403	broad.mit.edu	37	chr14	23523465	23523465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgttgtcccccaggtctGggtcctgggcccggagccgg	2	7	18	14	3	1	0	0	0	1	0	3	1	3	1	5	6	1	1	5	6	0	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:23523465G>A	ENST00000397359.3	-	6	1116	c.857C>T	c.(856-858)cCa>cTa	p.P286L	CDH24_ENST00000554034.1_Missense_Mutation_p.P286L|CDH24_ENST00000267383.5_Missense_Mutation_p.P286L|CDH24_ENST00000487137.2_Missense_Mutation_p.P286L	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	286	Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCCCAGGTCTGGGTCCTGGGC	0.637													35	164					0	0	0	0	A	23523465	G	A	23523465	3	1	209	1	0	0	0	0	1	0	0	0	3138	1348	47	4	1634	4	CDH24	14	23523465	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08		23523465	83826075	154	37173											
MYH7	4625	broad.mit.edu	37	chr14	23897712	23897712	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaggccaaagaggcaccttCtcgatgaggtcaatgcaggc	12	7	12	10	1	2	2	1	1	1	1	3	3	2	2	2	4	1	2	2	4	3	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:23897712C>T	ENST00000355349.3	-	15	1737	c.1575G>A	c.(1573-1575)gaG>gaA	p.E525E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	525	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		GAGGCACCTTCTCGATGAGGT	0.502													7	50					0	0	0	0	T	23897712	C	T	23897712	2	4	209	1	0	0	0	0	0	0	0	1	10109	912	32	2		2	MYH7	14	23897712	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	374247	23897712	83451828	155	37174											
FAM179B	23116	broad.mit.edu	37	chr14	45432505	45432505	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggccaagacaggtttcaatCttacatttctcgtctgccct	8	14	7	12	1	4	1	1	0	3	1	5	1	4	1	2	2	2	1	2	2	3	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:45432505C>G	ENST00000361462.2	+	1	1064	c.881C>G	c.(880-882)tCt>tGt	p.S294C	FAM179B_ENST00000361577.3_Missense_Mutation_p.S294C|FAM179B_ENST00000382233.2_Missense_Mutation_p.S294C			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	294							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGGTTTCAATCTTACATTTCT	0.498													20	89					0	0	0	0	G	45432505	C	G	45432505	3	3	209	1	0	0	0	0	1	0	0	0	5547	913	32	2	883	2	FAM179B	14	45432505	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	21534793	45432505	61917035	156	37175											
PPM1A	5494	broad.mit.edu	37	chr14	60750214	60750214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaagtcactgatgaccttGagaaagtttgcaatgaagta	14	12	10	5	0	1	5	1	5	0	1	1	6	1	5	1	0	1	3	1	0	5	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:60750214G>C	ENST00000395076.4	+	2	1223	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	PPM1A_ENST00000325658.3_Missense_Mutation_p.E265Q|PPM1A_ENST00000529574.1_Missense_Mutation_p.E265Q|PPM1A_ENST00000325642.3_Missense_Mutation_p.E338Q	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	265					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TGATGACCTTGAGAAAGTTTG	0.348													8	86					0	0	0	0	C	60750214	G	C	60750214	3	2	209	1	0	0	0	0	1	0	0	0	12411	1291	45	2	1018	2	PPM1A	14	60750214	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	15317709	60750214	46599326	157	37176											
ESRRB	2103	broad.mit.edu	37	chr14	76966231	76966231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagagcagcttagaggatCtcccaaggatgaaagaatgt	15	7	11	8	0	1	4	0	1	1	3	2	6	1	6	2	2	2	2	2	2	5	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:76966231C>G	ENST00000380887.2	+	8	1394	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C	ESRRB_ENST00000261532.7_3'UTR|RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000509242.1_Missense_Mutation_p.S441C			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	441						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTTAGAGGATCTCCCAAGGAT	0.512													6	53					0	0	0	0	G	76966231	C	G	76966231	3	3	209	1	0	0	0	0	1	0	0	0	5299	913	32	2	1348	2	ESRRB	14	76966231	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	16216017	76966231	30383309	158	37177											
ASB2	51676	broad.mit.edu	37	chr14	94417555	94417555	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgcattgtgctgcaccaGaatcttcacggcctccgcgt	6	11	10	14	3	3	1	1	0	2	1	4	1	4	1	3	1	3	3	3	1	1	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:94417555G>C	ENST00000555019.1	-	6	1100	c.670C>G	c.(670-672)Ctg>Gtg	p.L224V	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.L176V	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	176				Missing (in Ref. 7; AAD45345).	intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGCTGCACCAGAATCTTCACG	0.622													5	57					0	0	0	0	C	94417555	G	C	94417555	3	2	209	1	0	0	0	0	1	0	0	0	1027	933	33	2	1257	2	ASB2	14	94417555	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	17451324	94417555	12931985	159	37178											
DYNC1H1	1778	broad.mit.edu	37	chr14	102476268	102476268	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaccatgaaccctggctaCgcgggccggtctaaccttcc	8	8	9	16	3	2	1	1	1	1	0	3	1	3	1	5	3	3	1	5	3	3	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:102476268C>T	ENST00000360184.4	+	30	6230	c.6066C>T	c.(6064-6066)taC>taT	p.Y2022Y		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2022	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCCTGGCTACGCGGGCCGGT	0.552													7	38					0	0	0	0	T	102476268	C	T	102476268	2	4	209	1	0	0	0	0	0	0	0	1	4877	547	19	1		1	DYNC1H1	14	102476268	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	8058713	102476268	4873272	160	37179											
HSP90AA1	3320	broad.mit.edu	37	chr14	102552205	102552205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcagcaaccaaataagcaGaataaaaaccaacaccgaac	21	4	4	12	1	1	1	1	0	1	1	2	2	1	1	3	0	6	2	3	0	9	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:102552205G>A	ENST00000334701.7	-	4	1066	c.785C>T	c.(784-786)tCt>tTt	p.S262F	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.S140F|HSP90AA1_ENST00000441629.2_Intron	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	140					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CAAATAAGCAGAATAAAAACC	0.473													16	52					0	0	0	0	A	102552205	G	A	102552205	3	1	209	1	0	0	0	0	1	0	0	0	7453	942	33	2	1815	2	HSP90AA1	14	102552205	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	75937	102552205	4797335	161	37180											
NIPA2	81614	broad.mit.edu	37	chr15	23012399	23012399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacccaattttcccatgaaGattaagtctttcattgagaa	14	13	5	9	0	2	3	1	2	1	2	3	4	3	3	2	0	0	0	2	0	4	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr15:23012399G>A	ENST00000337451.3	-	7	940	c.328C>T	c.(328-330)Ctt>Ttt	p.L110F	NIPA2_ENST00000539711.2_Missense_Mutation_p.L91F|NIPA2_ENST00000398013.3_Missense_Mutation_p.L110F|NIPA2_ENST00000398014.2_Missense_Mutation_p.L110F|NIPA2_ENST00000359727.4_Missense_Mutation_p.L91F	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	110						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TTCCCATGAAGATTAAGTCTT	0.333													9	67					0	0	0	0	A	23012399	G	A	23012399	3	1	209	1	0	0	0	0	1	0	0	0	10493	942	33	2	762	2	NIPA2	15	23012399	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08		23012399	79518993	162	37181											
RYR3	6263	broad.mit.edu	37	chr15	34131070	34131070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcttaaagcatgggcctGaagtgggtttgggtgacctc	8	10	15	8	0	0	2	0	2	0	0	1	2	0	2	2	3	2	4	2	3	3	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr15:34131070G>A	ENST00000389232.4	+	89	12959	c.12889G>A	c.(12889-12891)Gaa>Aaa	p.E4297K	RYR3_ENST00000415757.3_Missense_Mutation_p.E4292K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4297					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCATGGGCCTGAAGTGGGTTT	0.458													7	34					0	0	0	0	A	34131070	G	A	34131070	3	1	209	1	0	0	0	0	1	0	0	0	13855	1291	45	2	13243	2	RYR3	15	34131070	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	11118671	34131070	68400322	163	37182											
SEMA6D	80031	broad.mit.edu	37	chr15	48056145	48056145	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatttctaaaggctcggctGaactgttctgtccctggaga	8	13	10	10	1	3	2	1	1	2	1	5	3	4	2	1	3	1	3	1	3	3	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr15:48056145G>C	ENST00000316364.5	+	10	1285	c.846G>C	c.(844-846)ctG>ctC	p.L282L	SEMA6D_ENST00000358066.4_Silent_p.L282L|SEMA6D_ENST00000558816.1_Silent_p.L282L|SEMA6D_ENST00000536845.2_Silent_p.L282L|SEMA6D_ENST00000389428.3_Silent_p.L282L|SEMA6D_ENST00000558014.1_Silent_p.L282L|SEMA6D_ENST00000389432.2_Silent_p.L282L|SEMA6D_ENST00000354744.4_Silent_p.L282L|SEMA6D_ENST00000389433.2_Silent_p.L282L|SEMA6D_ENST00000389425.3_Silent_p.L282L|SEMA6D_ENST00000537942.1_Silent_p.L282L|SEMA6D_ENST00000355997.3_Silent_p.L282L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	282	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGGCTCGGCTGAACTGTTCTG	0.488													11	86					0	0	0	0	C	48056145	G	C	48056145	2	2	209	1	0	0	0	0	0	0	0	1	14129	1277	45	2		2	SEMA6D	15	48056145	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	13925075	48056145	54475247	164	37183											
HS3ST6	64711	broad.mit.edu	37	chr16	1962054	1962054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagcgtctgggcgtagtcgGagatggcccgggtcacgggg	6	6	20	9	5	2	2	1	0	1	2	3	3	2	2	1	6	1	1	1	6	1	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:1962054G>A	ENST00000454677.2	-	2	682	c.617C>T	c.(616-618)tCc>tTc	p.S206F	HS3ST6_ENST00000443547.1_Missense_Mutation_p.S158F|HS3ST6_ENST00000293937.3_Missense_Mutation_p.S189F			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	158										endometrium(2)|lung(2)	4						GGCGTAGTCGGAGATGGCCCG	0.716													5	31					0	0	0	0	A	1962054	G	A	1962054	3	1	209	1	0	0	0	0	1	0	0	0	7419	1174	41	2	466	2	HS3ST6	16	1962054	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08		1962054	88392699	165	37184											
KIAA0556	23247	broad.mit.edu	37	chr16	27751533	27751533	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatgaacgctcactcggaaGaaagcaaaggcacccatgag	15	4	10	12	2	1	3	1	2	0	1	2	4	1	4	2	2	2	3	2	2	4	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:27751533G>C	ENST00000261588.4	+	15	1934	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	639										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCACTCGGAAGAAAGCAAAGG	0.562													7	59					0	0	0	0	C	27751533	G	C	27751533	3	2	209	1	0	0	0	0	1	0	0	0	8234	943	33	2	1973	2	KIAA0556	16	27751533	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	25789479	27751533	62603220	166	37185											
SRCAP	10847	broad.mit.edu	37	chr16	30749246	30749246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggcaccagattctgctGaggggaccacccttacagtg	10	7	13	11	0	1	2	0	1	1	1	1	4	1	4	3	4	2	2	3	4	1	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:30749246G>A	ENST00000262518.4	+	34	8270	c.7885G>A	c.(7885-7887)Gag>Aag	p.E2629K	SRCAP_ENST00000395059.2_Missense_Mutation_p.E2567K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E2471K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2629	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGATTCTGCTGAGGGGACCAC	0.582													16	80					0	0	0	0	A	30749246	G	A	30749246	3	1	209	1	0	0	0	0	1	0	0	0	15225	1291	45	2	8011	2	SRCAP	16	30749246	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	2997713	30749246	59605507	167	37186											
ZNF423	23090	broad.mit.edu	37	chr16	49672763	49672763	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagacgaggccacccaggaGagttgtgggtcgtcatcacc	9	6	15	11	2	2	2	2	0	0	2	3	5	2	2	3	4	0	1	3	4	0	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:49672763G>A	ENST00000561648.1	-	4	353	c.300C>T	c.(298-300)ctC>ctT	p.L100L	ZNF423_ENST00000563137.2_Silent_p.L40L|ZNF423_ENST00000562520.1_Silent_p.L40L|ZNF423_ENST00000567169.1_5'UTR|ZNF423_ENST00000535559.1_5'UTR|ZNF423_ENST00000562871.1_Silent_p.L40L|ZNF423_ENST00000262383.2_Silent_p.L100L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	100					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCACCCAGGAGAGTTGTGGGT	0.587													6	45					0	0	0	0	A	49672763	G	A	49672763	2	1	209	1	0	0	0	0	0	0	0	1	17993	929	33	2		2	ZNF423	16	49672763	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	18923517	49672763	40681990	168	37187											
TK2	7084	broad.mit.edu	37	chr16	66562953	66562953	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgaatcgacctctccatCaaccgtacagatgacaccta	12	9	6	14	2	2	3	1	2	1	1	4	4	2	3	4	0	2	1	4	0	4	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:66562953C>T	ENST00000299697.7	-	6	743	c.519G>A	c.(517-519)ttG>ttA	p.L173L	TK2_ENST00000451102.2_Silent_p.L131L|TK2_ENST00000527800.1_Silent_p.L34L|TK2_ENST00000525974.1_Silent_p.L34L|TK2_ENST00000527284.1_Silent_p.L100L|TK2_ENST00000544898.1_Silent_p.L82L|TK2_ENST00000564917.1_Silent_p.L131L|TK2_ENST00000417693.3_Silent_p.L113L|TK2_ENST00000563369.2_Silent_p.L34L|TK2_ENST00000545043.2_Silent_p.L106L	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	131					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		ACCTCTCCATCAACCGTACAG	0.393													16	76					0	0	0	0	T	66562953	C	T	66562953	2	4	209	1	0	0	0	0	0	0	0	1	16027	825	29	2		2	TK2	16	66562953	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	16890190	66562953	23791800	169	37188											
ZFHX3	463	broad.mit.edu	37	chr16	72984803	72984803	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctctcgcccaggttcatCagctcctctgacaccagctg	8	9	8	16	1	4	1	2	1	2	0	6	1	5	1	3	1	3	4	3	1	1	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:72984803C>T	ENST00000268489.5	-	3	3453	c.2781G>A	c.(2779-2781)ctG>ctA	p.L927L	ZFHX3_ENST00000397992.5_Silent_p.L13L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	927					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCAGGTTCATCAGCTCCTCTG	0.617													10	58					0	0	0	0	T	72984803	C	T	72984803	2	4	209	1	0	0	0	0	0	0	0	1	17729	813	29	2		2	ZFHX3	16	72984803	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	6421850	72984803	17369950	170	37189											
ALOX15	246	broad.mit.edu	37	chr17	4535217	4535217	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtctgcccagctgccaagtGatggacatctggagagaagc	10	7	13	11	1	2	2	0	1	2	1	2	5	2	4	2	2	4	1	2	2	2	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:4535217G>A	ENST00000570836.1	-	14	1872	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	ALOX15_ENST00000545513.1_Silent_p.I614I|ALOX15_ENST00000574640.1_Silent_p.I553I|ALOX15_ENST00000293761.3_Silent_p.I592I			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	592	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GCTGCCAAGTGATGGACATCT	0.627													4	47					0	0	0	0	A	4535217	G	A	4535217	2	1	209	1	0	0	0	0	0	0	0	1	538	1280	45	2		2	ALOX15	17	4535217	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08		4535217	76659993	171	37190											
TP53	7157	broad.mit.edu	37	chr17	7578217	7578218	+	Frame_Shift_Del	DEL	GT	GT	-																															ccaccacactatgtcgaaaaGtgtttctgtcatccaaatac																										TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:7578217_7578218delGT	ENST00000420246.2	-	6	763_764	c.631_632delAC	c.(631-633)tfs	p.T211fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.T211fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.T211fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.T211fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.T211fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.T211fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	211	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.T211I(7)|p.?(5)|p.T211N(4)|p.T211fs*4(3)|p.T211fs*36(2)|p.R209fs*35(2)|p.T211A(2)|p.T211fs*5(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.R209fs*36(1)|p.T211P(1)|p.T211S(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGTCGAAAAGTGTTTCTGTCA	0.535		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	29	---	---	---	---					-	7578218	GT	-	7578217	7	5	209	1	0	1	0	1	0	0	0	0	16476	1029	36	0	662	0	TP53	17	7578217	Frame_Shift_Del	DEL	GT	TCGA-CR-7386-01A-11D-2012-08	3043000	7578217	73616993	172	37191											
CCDC144A	9720	broad.mit.edu	37	chr17	16594003	16594003	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgggcgacgtccctggggtgGagcacatcttagctcctgga	6	8	15	12	3	1	0	0	0	1	0	3	3	3	2	2	5	2	2	2	5	1	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:16594003G>C	ENST00000443444.2	+	1	429	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	CCDC144A_ENST00000340621.5_Missense_Mutation_p.E97Q|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E97Q|CCDC144A_ENST00000456009.1_Missense_Mutation_p.E97Q|CCDC144A_ENST00000360524.8_Missense_Mutation_p.E97Q|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E97Q			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	97																	CCCTGGGGTGGAGCACATCTT	0.647													69	197					0	0	0	0	C	16594003	G	C	16594003	3	2	209	1	0	0	0	0	1	0	0	0	2802	1175	41	2	291	2	CCDC144A	17	16594003	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	9015786	16594003	64601207	173	37192											
KRT13	3860	broad.mit.edu	37	chr17	39659616	39659616	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccaggtcagtcttagacaGagtgagctcatccagcaccc	10	8	9	14	0	3	3	2	1	1	2	5	3	5	3	3	1	2	2	3	1	1	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:39659616G>A	ENST00000246635.3	-	3	704	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L	KRT13_ENST00000587544.1_Silent_p.L220L|KRT13_ENST00000336861.3_Silent_p.L220L	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	220	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GTCTTAGACAGAGTGAGCTCA	0.527													20	111					0	0	0	0	A	39659616	G	A	39659616	2	1	209	1	0	0	0	0	0	0	0	1	8502	933	33	2		2	KRT13	17	39659616	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	23065613	39659616	41535594	174	37193											
WNT3	7473	broad.mit.edu	37	chr17	44895960	44895960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagcccgagcaggtggggctCcattagaagaggcgccgagg	9	4	17	11	3	0	2	0	0	0	2	1	4	1	2	3	5	2	2	3	5	2	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:44895960C>G	ENST00000225512.5	-	1	166	c.4G>C	c.(4-6)Gag>Cag	p.E2Q		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	2					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGGTGGGGCTCCATTAGAAGA	0.602													2	9					0	0	0	0	G	44895960	C	G	44895960	3	3	209	1	0	0	0	0	1	0	0	0	17484	864	30	2	1079	2	WNT3	17	44895960	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	5236344	44895960	36299250	175	37194											
CSHL1	1444	broad.mit.edu	37	chr17	61988231	61988231	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggacggcaccagcctcttGaagccagggcaggcagagca	10	5	14	12	1	1	2	0	1	1	1	1	3	1	3	3	4	3	4	3	4	1	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:61988231G>C	ENST00000392824.4	-	2	125	c.64C>G	c.(64-66)Caa>Gaa	p.Q22E	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000309894.5_Missense_Mutation_p.Q22E|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Missense_Mutation_p.Q22E			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	22						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CCAGCCTCTTGAAGCCAGGGC	0.612													5	57					0	0	0	0	C	61988231	G	C	61988231	3	2	209	1	0	0	0	0	1	0	0	0	3974	1299	45	2	620	2	CSHL1	17	61988231	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	17092271	61988231	19206979	176	37195											
COG1	9382	broad.mit.edu	37	chr17	71189326	71189326	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggagcgccaggttcgggccGagatcgagcacaagaaggag	11	4	17	9	4	0	2	0	0	0	2	2	6	0	4	2	4	2	2	2	4	2	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:71189326G>C	ENST00000299886.4	+	1	198	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	40					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GGTTCGGGCCGAGATCGAGCA	0.687													5	17					0	0	0	0	C	71189326	G	C	71189326	3	2	209	1	0	0	0	0	1	0	0	0	3687	1059	37	3	120	3	COG1	17	71189326	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	9201095	71189326	10005884	177	37196											
C17orf77	146723	broad.mit.edu	37	chr17	72588192	72588192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatatgggcatggatggatGaattggcgctgtcattttcc	9	13	13	6	1	1	1	1	1	0	0	2	4	2	3	1	4	0	2	1	4	3	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:72588192G>A	ENST00000392620.1	+	3	369	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	CD300LD_ENST00000375352.1_Intron|C17orf77_ENST00000328023.2_Missense_Mutation_p.E3K	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	3						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ATGGATGGATGAATTGGCGCT	0.443													19	139					0	0	0	0	A	72588192	G	A	72588192	3	1	209	1	0	0	0	0	1	0	0	0	1898	1291	45	2	9	2	C17orf77	17	72588192	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	1398866	72588192	8607018	178	37197											
HGS	9146	broad.mit.edu	37	chr17	79663007	79663007	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcagctgctggagctgctCaaccagctggacgagcgcag	8	5	14	14	3	1	0	1	0	0	0	1	3	1	2	2	2	7	7	2	2	1	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:79663007C>T	ENST00000329138.4	+	15	1506	c.1371C>T	c.(1369-1371)ctC>ctT	p.L457L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	457	Interaction with SNAP25 and TRAK2 (By similarity).|Interaction with SNX1 (By similarity).|Interaction with STAM1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TGGAGCTGCTCAACCAGCTGG	0.672													4	49					0	0	0	0	T	79663007	C	T	79663007	2	4	209	1	0	0	0	0	0	0	0	1	7137	813	29	2		2	HGS	17	79663007	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08	7074815	79663007	1532203	179	37198											
ASXL3	80816	broad.mit.edu	37	chr18	31318686	31318686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatggcagaattggagtcaGaggatatcttgatccctgaa	13	11	11	6	0	2	4	1	2	1	2	3	6	3	6	1	3	0	1	1	3	4	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr18:31318686G>A	ENST00000269197.5	+	11	1318	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATTGGAGTCAGAGGATATCTT	0.413													13	49					0	0	0	0	A	31318686	G	A	31318686	3	1	209	1	0	0	0	0	1	0	0	0	1072	943	33	2	1360	2	ASXL3	18	31318686	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08		31318686	46758562	180	37199											
TCF4	6925	broad.mit.edu	37	chr18	52928732	52928732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccagagcatctccagtctGggagctgccggctgccccgc	5	6	12	18	2	2	1	0	0	2	1	3	2	2	2	6	2	4	3	6	2	0	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr18:52928732G>T	ENST00000354452.3	-	12	1566	c.955C>A	c.(955-957)Cag>Aag	p.Q319K	TCF4_ENST00000570287.2_Missense_Mutation_p.Q159K|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000566279.1_Missense_Mutation_p.Q259K|TCF4_ENST00000567880.1_Missense_Mutation_p.Q259K|TCF4_ENST00000537856.3_Missense_Mutation_p.Q189K|TCF4_ENST00000566286.1_Missense_Mutation_p.Q317K|TCF4_ENST00000568673.1_Missense_Mutation_p.Q295K|TCF4_ENST00000543082.1_Missense_Mutation_p.Q277K|TCF4_ENST00000570177.2_Missense_Mutation_p.Q189K|TCF4_ENST00000398339.1_Missense_Mutation_p.Q421K|TCF4_ENST00000568740.1_Missense_Mutation_p.Q294K|TCF4_ENST00000356073.4_Missense_Mutation_p.Q319K|TCF4_ENST00000564403.2_Missense_Mutation_p.Q325K|TCF4_ENST00000540999.1_Missense_Mutation_p.Q295K|TCF4_ENST00000544241.2_Missense_Mutation_p.Q248K|TCF4_ENST00000564999.1_Missense_Mutation_p.Q319K|TCF4_ENST00000457482.3_Missense_Mutation_p.Q159K|TCF4_ENST00000565018.2_Missense_Mutation_p.Q319K|TCF4_ENST00000537578.1_Missense_Mutation_p.Q295K|TCF4_ENST00000564228.1_Missense_Mutation_p.Q248K|TCF4_ENST00000561831.3_Missense_Mutation_p.Q159K|TCF4_ENST00000561992.1_Missense_Mutation_p.Q189K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	319					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCTCCAGTCTGGGAGCTGCCG	0.458													43	227					8.17448e-37	8.94687e-37	1	0	T	52928732	G	T	52928732	3	4	209	1	0	0	0	0	1	0	0	0	15789	1357	47	4	1092	4	TCF4	18	52928732	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	21610046	52928732	25148516	181	37200											
MALT1	10892	broad.mit.edu	37	chr18	56402442	56402442	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctatttttaaggtgtcaagGagcagaagcttttgaaatcc	12	14	9	6	0	2	2	1	1	1	1	3	3	3	3	1	2	2	2	1	2	5	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr18:56402442G>C	ENST00000348428.3	+	13	1742	c.1484G>C	c.(1483-1485)gGa>gCa	p.G495A	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.G484A	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	495	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						aggtGTCAAGGAGCAGAAGCT	0.323			T	BIRC3	MALT								4	22					0	0	0	0	C	56402442	G	C	56402442	3	2	209	1	0	0	0	0	1	0	0	0	9271	1174	41	2	1534	2	MALT1	18	56402442	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	3473710	56402442	21674806	182	37201											
C3	718	broad.mit.edu	37	chr19	6697749	6697749	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagagtagggtagccgcaGgtcgatgaagaagtcctgca	13	6	14	8	2	0	3	0	1	0	2	2	4	1	3	2	2	3	4	2	2	5	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:6697749G>A	ENST00000245907.6	-	20	2589	c.2497C>T	c.(2497-2499)Ctg>Ttg	p.L833L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	833					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGTAGCCGCAGGTCGATGAAG	0.567													3	33					0	0	0	0	A	6697749	G	A	6697749	2	1	209	1	0	0	0	0	0	0	0	1	2224	991	35	4		4	C3	19	6697749	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08		6697749	52431234	183	37202											
FBN3	84467	broad.mit.edu	37	chr19	8137035	8137035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcagctcctctttgtccGgggtgtcctggggtccgggg	3	10	17	11	2	1	1	0	0	1	1	5	1	5	1	4	6	2	2	4	6	0	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:8137035G>A	ENST00000600128.1	-	63	8399	c.7985C>T	c.(7984-7986)cCg>cTg	p.P2662L	FBN3_ENST00000270509.2_Missense_Mutation_p.P2662L|FBN3_ENST00000601739.1_Missense_Mutation_p.P2662L			Q75N90	FBN3_HUMAN	fibrillin 3	2662						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTCTTTGTCCGGGGTGTCCTG	0.662													29	172					0	0	0	0	A	8137035	G	A	8137035	3	1	209	1	0	0	0	0	1	0	0	0	5749	1116	39	1	452	1	FBN3	19	8137035	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	1439286	8137035	50991948	184	37203											
ANGPTL6	83854	broad.mit.edu	37	chr19	10204163	10204163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggttccagggagaagccatCatagtgggcacgtgctccac	9	7	14	11	1	1	1	1	0	0	1	3	2	3	1	3	3	2	3	3	3	2	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:10204163C>T	ENST00000253109.4	-	5	1322	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.D362N|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.D322N	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	362	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GAGAAGCCATCATAGTGGGCA	0.622													12	58					0	0	0	0	T	10204163	C	T	10204163	3	4	209	1	0	0	0	0	1	0	0	0	618	826	29	2	336	2	ANGPTL6	19	10204163	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	2067128	10204163	48924820	185	37204											
ZGLP1	100125288	broad.mit.edu	37	chr19	10415872	10415872	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctggagcagcgagtgccGtatttcttgtacctagggtt	7	12	13	9	2	1	0	0	0	1	0	1	2	1	1	2	2	5	5	2	2	3	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:10415872G>A	ENST00000403903.3	-	4	1909	c.711C>T	c.(709-711)taC>taT	p.Y237Y	ZGLP1_ENST00000403352.1_Silent_p.Y153Y	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	237					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						AGCGAGTGCCGTATTTCTTGT	0.562													8	46					0	0	0	0	A	10415872	G	A	10415872	2	1	209	1	0	0	0	0	0	0	0	1	17768	1140	40	1		1	ZGLP1	19	10415872	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	211709	10415872	48713111	186	37205											
ELOF1	84337	broad.mit.edu	37	chr19	11665079	11665079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggatttctcgtggttgcaGaaggggcaggtgaactgggt	8	10	17	6	1	1	2	0	1	1	1	2	3	1	3	0	6	2	3	0	6	2	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:11665079G>A	ENST00000586683.1	-	2	141	c.84C>T	c.(82-84)ttC>ttT	p.F28F	ELOF1_ENST00000252445.3_Silent_p.F28F|ELOF1_ENST00000589171.1_Silent_p.F28F|ELOF1_ENST00000591912.1_Silent_p.F28F|ELOF1_ENST00000591674.1_Silent_p.F35F|ELOF1_ENST00000587806.1_Silent_p.F49F|ELOF1_ENST00000590700.1_Silent_p.F28F|ELOF1_ENST00000586120.1_Silent_p.F28F			P60002	ELOF1_HUMAN	elongation factor 1 homolog (S. cerevisiae)	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			endometrium(3)|lung(2)	5						CGTGGTTGCAGAAGGGGCAGG	0.572													14	114					0	0	0	0	A	11665079	G	A	11665079	2	1	209	1	0	0	0	0	0	0	0	1	5110	933	33	2		2	ELOF1	19	11665079	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	1249207	11665079	47463904	187	37206											
EMR2	30817	broad.mit.edu	37	chr19	14884783	14884783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgggggtggtgatgatctCagaaaaagagctgaaccctg	12	8	14	7	0	1	5	1	3	1	2	2	5	1	5	1	3	2	1	1	3	3	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:14884783C>T	ENST00000315576.3	-	4	617	c.166G>A	c.(166-168)Gag>Aag	p.E56K	EMR2_ENST00000595839.1_Missense_Mutation_p.E56K|EMR2_ENST00000392967.2_Missense_Mutation_p.E56K|EMR2_ENST00000594294.1_Missense_Mutation_p.E56K|EMR2_ENST00000392965.3_Missense_Mutation_p.E56K|EMR2_ENST00000353005.1_Missense_Mutation_p.E56K|EMR2_ENST00000346057.1_Missense_Mutation_p.E56K|EMR2_ENST00000601345.1_Missense_Mutation_p.E56K|EMR2_ENST00000594076.1_Missense_Mutation_p.E56K|EMR2_ENST00000596991.2_Missense_Mutation_p.E56K|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000353876.1_Missense_Mutation_p.E56K	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	56	EGF-like 1.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTGATGATCTCAGAAAAAGAG	0.602													29	109					0	0	0	0	T	14884783	C	T	14884783	3	4	209	1	0	0	0	0	1	0	0	0	5143	835	29	2	2377	2	EMR2	19	14884783	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	3219704	14884783	44244200	188	37207											
F2RL3	9002	broad.mit.edu	37	chr19	17000712	17000712	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgctggcccttcggggaGgccgcctgccgcctggccac	3	5	15	18	4	0	0	0	0	0	0	1	1	0	1	6	5	2	1	6	5	0	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:17000712G>C	ENST00000248076.3	+	2	768	c.438G>C	c.(436-438)gaG>gaC	p.E146D	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	146					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTTCGGGGAGGCCGCCTGCC	0.706													3	11					0	0	0	0	C	17000712	G	C	17000712	3	2	209	1	0	0	0	0	1	0	0	0	5384	991	35	4	444	4	F2RL3	19	17000712	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	2115929	17000712	42128271	189	37208											
ZNF599	148103	broad.mit.edu	37	chr19	35251156	35251156	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggtcttttcctggtccttGagagtcacactcatggagag	7	12	13	9	0	3	2	2	1	1	2	5	4	5	2	2	4	0	0	2	4	0	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:35251156G>C	ENST00000329285.7	-	4	923	c.550C>G	c.(550-552)Caa>Gaa	p.Q184E		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CCTGGTCCTTGAGAGTCACAC	0.473													7	127					0	0	0	0	C	35251156	G	C	35251156	3	2	209	1	0	0	0	0	1	0	0	0	18124	1299	45	2	1220	2	ZNF599	19	35251156	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	18250444	35251156	23877827	190	37209											
LGI4	163175	broad.mit.edu	37	chr19	35616221	35616221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggggggccaccagggccGgaggccccagctcctgcagt	6	3	16	16	2	0	0	0	0	0	0	1	1	1	1	6	6	2	2	6	6	0	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:35616221G>A	ENST00000310123.3	-	9	2009	c.1490C>T	c.(1489-1491)cCg>cTg	p.P497L	LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	497						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CACCAGGGCCGGAGGCCCCAG	0.642													10	51					0	0	0	0	A	35616221	G	A	35616221	3	1	209	1	0	0	0	0	1	0	0	0	8808	1116	39	1	127	1	LGI4	19	35616221	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	365065	35616221	23512762	191	37210											
CYP2B6	1555	broad.mit.edu	37	chr19	41522664	41522664	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggccccagaagacatcgatCtgacaccccaggagtgtggt	10	7	12	12	1	1	3	0	1	1	2	2	5	1	4	4	3	0	0	4	3	1	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:41522664C>G	ENST00000324071.4	+	9	1415	c.1408C>G	c.(1408-1410)Ctg>Gtg	p.L470V	CYP2B6_ENST00000593831.1_Missense_Mutation_p.L234V|CYP2B6_ENST00000330446.5_Missense_Mutation_p.L270V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	470					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	AGACATCGATCTGACACCCCA	0.582													7	24					0	0	0	0	G	41522664	C	G	41522664	3	3	209	1	0	0	0	0	1	0	0	0	4196	912	32	2	1442	2	CYP2B6	19	41522664	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	5906443	41522664	17606319	192	37211											
POU2F2	5452	broad.mit.edu	37	chr19	42600050	42600050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggctgaagtcgttgccgTagagcttgcccatggccagg	6	10	14	11	2	1	2	0	1	1	1	2	2	1	2	3	3	3	4	3	3	2	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:42600050T>C	ENST00000389341.5	-	9	713	c.647A>G	c.(646-648)tAc>tGc	p.Y216C	POU2F2_ENST00000560558.1_Missense_Mutation_p.Y177C|POU2F2_ENST00000560398.1_Missense_Mutation_p.Y238C|POU2F2_ENST00000533720.1_Missense_Mutation_p.Y216C|POU2F2_ENST00000529952.1_Missense_Mutation_p.Y232C|POU2F2_ENST00000529067.1_Missense_Mutation_p.Y216C|POU2F2_ENST00000526816.2_Missense_Mutation_p.Y232C|POU2F2_ENST00000342301.4_Missense_Mutation_p.Y232C	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	232	POU-specific.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GTCGTTGCCGTAGAGCTTGCC	0.652													22	105					0	0	0	0	C	42600050	T	C	42600050	3	2	209	1	0	0	0	0	1	0	0	0	12343	1638	57	5	768	5	POU2F2	19	42600050	Missense_Mutation	SNP	T	TCGA-CR-7386-01A-11D-2012-08	1077386	42600050	16528933	193	37212											
TRPM4	54795	broad.mit.edu	37	chr19	49692319	49692319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatgcaagctgacgccCgtgccttctttgcccaggat	6	10	11	14	2	1	1	0	1	1	0	1	2	1	2	4	2	4	2	4	2	1	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:49692319C>T	ENST00000252826.5	+	14	2116	c.1990C>T	c.(1990-1992)Cgt>Tgt	p.R664C	TRPM4_ENST00000427978.2_Missense_Mutation_p.R664C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R310C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	664					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AGCTGACGCCCGTGCCTTCTT	0.622													25	108					0	0	0	0	T	49692319	C	T	49692319	3	4	209	1	0	0	0	0	1	0	0	0	16683	652	23	1	2044	1	TRPM4	19	49692319	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	7092269	49692319	9436664	194	37213											
RCN3	57333	broad.mit.edu	37	chr19	50042435	50042435	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccaggtggaggagtacatCggtgagtgggccccaatttc	8	9	15	9	1	0	1	0	1	0	0	3	3	1	3	3	5	1	1	3	5	2	2	rs151007768	byFrequency	TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:50042435C>T	ENST00000270645.3	+	5	1125	c.679_splice	c.e5+1	p.I226_splice		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	226	EF-hand 4.					endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		AGGAGTACATCGGTGAGTGGG	0.577													7	53					0	0	0	0	T	50042435	C	T	50042435	5	4	209	1	0	0	0	0	0	0	1	0	13263	898	31	1	692	1	RCN3	19	50042435	Splice_Site	SNP	C	TCGA-CR-7386-01A-11D-2012-08	350116	50042435	9086548	195	37214											
NLRP7	199713	broad.mit.edu	37	chr19	55450689	55450689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggaaagcagcttctgtaCgtccccgatgtcccaggcgt	7	9	11	14	4	1	0	0	0	1	0	4	2	4	1	4	2	3	3	4	2	2	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:55450689C>T	ENST00000446217.1	-	6	1984	c.1582G>A	c.(1582-1584)Gta>Ata	p.V528I	NLRP7_ENST00000592784.1_Missense_Mutation_p.V500I|NLRP7_ENST00000590030.1_Missense_Mutation_p.V500I|NLRP7_ENST00000588756.1_Missense_Mutation_p.V500I|NLRP7_ENST00000340844.2_Missense_Mutation_p.V500I|NLRP7_ENST00000448121.2_Missense_Mutation_p.V500I|NLRP7_ENST00000328092.5_Missense_Mutation_p.V500I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	500							ATP binding	p.V500I(1)		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)		AGCTTCTGTACGTCCCCGATG	0.567													11	72					0	0	0	0	T	55450689	C	T	55450689	3	4	209	1	0	0	0	0	1	0	0	0	10552	536	19	1	1647	1	NLRP7	19	55450689	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	5408254	55450689	3678294	196	37215											
ZNF417	147687	broad.mit.edu	37	chr19	58420667	58420667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagatttcccatattctcTacactcataaggcctttctc	12	14	3	12	0	3	1	1	0	2	1	6	1	4	1	2	1	1	0	2	1	5	6			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:58420667T>C	ENST00000312026.5	-	3	1143	c.979A>G	c.(979-981)Aga>Gga	p.R327G	ZNF417_ENST00000536263.1_Missense_Mutation_p.R128G|ZNF417_ENST00000595559.1_Missense_Mutation_p.R326G|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CCATATTCTCTACACTCATAA	0.463													12	257					0	0	0	0	C	58420667	T	C	58420667	3	2	209	1	0	0	0	0	1	0	0	0	17989	1530	53	5	752	5	ZNF417	19	58420667	Missense_Mutation	SNP	T	TCGA-CR-7386-01A-11D-2012-08	2969978	58420667	708316	197	37216											
TGM6	343641	broad.mit.edu	37	chr20	2378615	2378615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctggatcgaagccccGgtcaccaaaacaacccagcc	12	4	7	18	2	1	0	1	0	0	0	3	2	2	1	7	2	4	0	7	2	4	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:2378615G>A	ENST00000202625.2	+	5	656	c.595G>A	c.(595-597)Ggt>Agt	p.G199S	TGM6_ENST00000381423.1_Missense_Mutation_p.G199S|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	199					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCGAAGCCCCGGTCACCAAAA	0.587													6	69					0	0	0	0	A	2378615	G	A	2378615	3	1	209	1	0	0	0	0	1	0	0	0	15928	1116	39	1	613	1	TGM6	20	2378615	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08		2378615	60646905	198	37217											
PAK7	57144	broad.mit.edu	37	chr20	9520219	9520219	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgttgctctctgagagggctCcctcaccaacatcaagtcta	9	11	8	13	0	4	1	2	1	2	1	6	2	5	1	2	1	2	3	2	1	3	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:9520219C>G	ENST00000378429.3	-	11	2596	c.2050G>C	c.(2050-2052)Gag>Cag	p.E684Q	PAK7_ENST00000353224.5_Missense_Mutation_p.E684Q|PAK7_ENST00000378423.1_Missense_Mutation_p.E684Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	684	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGAGAGGGCTCCCTCACCAAC	0.507													26	152					0	0	0	0	G	9520219	C	G	9520219	3	3	209	1	0	0	0	0	1	0	0	0	11476	864	30	2	113	2	PAK7	20	9520219	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	7141604	9520219	53505301	199	37218											
CST9	128822	broad.mit.edu	37	chr20	23586433	23586433	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caccaggcataagtcaccagGagctggaagcccatgagaag	14	4	12	11	0	1	1	1	1	0	1	1	4	1	3	3	3	2	2	3	3	3	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:23586433G>C	ENST00000376971.3	-	1	80	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	23						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					AAGTCACCAGGAGCTGGAAGC	0.532													14	104					0	0	0	0	C	23586433	G	C	23586433	2	2	209	1	0	0	0	0	0	0	0	1	4011	1161	41	2		2	CST9	20	23586433	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	14066214	23586433	39439087	200	37219											
RBM39	9584	broad.mit.edu	37	chr20	34302145	34302145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaactgaagacgaccagttGttcccaaatcaattccagtc	13	11	6	11	1	1	2	1	1	0	1	4	3	3	2	3	0	1	2	3	0	4	4			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:34302145G>A	ENST00000361162.6	-	11	1442	c.1058C>T	c.(1057-1059)aCa>aTa	p.T353I	RBM39_ENST00000528062.3_Missense_Mutation_p.T331I|RBM39_ENST00000253363.6_Missense_Mutation_p.T353I|RBM39_ENST00000407261.4_Missense_Mutation_p.T196I	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	353	Activating domain (By similarity).|Interaction with JUN (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	p.T353I(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					ACGACCAGTTGTTCCCAAATC	0.408													8	66					0	0	0	0	A	34302145	G	A	34302145	3	1	209	1	0	0	0	0	1	0	0	0	13215	1377	48	4	562	4	RBM39	20	34302145	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	10715712	34302145	28723375	201	37220											
KIAA1755	85449	broad.mit.edu	37	chr20	36869389	36869389	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctgagaccagaggcacagtCcagtgcgtcctcaaggacat	11	6	11	13	1	1	2	1	1	0	2	3	4	3	3	4	2	1	1	4	2	1	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:36869389C>G	ENST00000279024.4	-	3	1415	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	382										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGGCACAGTCCAGTGCGTCC	0.547													30	172					0	0	0	0	G	36869389	C	G	36869389	3	3	209	1	0	0	0	0	1	0	0	0	8308	855	30	2	2506	2	KIAA1755	20	36869389	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	2567244	36869389	26156131	202	37221											
GNAS	2778	broad.mit.edu	37	chr20	57429096	57429096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagttcgcggcagtcgCggcctcgagtgcggtccgcc	4	6	15	16	7	0	0	0	0	0	0	4	1	1	0	4	3	2	2	4	3	0	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:57429096C>T	ENST00000371100.4	+	1	1328	c.776C>T	c.(775-777)gCg>gTg	p.A259V	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.A259V|GNAS_ENST00000371102.4_Missense_Mutation_p.A259V|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.R196W|GNAS_ENST00000371075.3_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0			E -> V (in AHO).		activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCGGCAGTCGCGGCCTCGAGT	0.667			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			6	28					0	0	0	0	T	57429096	C	T	57429096	3	4	209	1	0	0	0	0	1	0	0	0	6561	768	27	1	1520	1	GNAS	20	57429096	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	20559707	57429096	5596424	203	37222											
ARFRP1	10139	broad.mit.edu	37	chr20	62331810	62331810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcgcctacgtgatgtccctCtgccgcggcggccggtgcac	3	8	14	16	6	1	1	0	1	1	0	2	1	2	1	4	3	4	1	4	3	1	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:62331810C>G	ENST00000359715.4	-	7	1157	c.591G>C	c.(589-591)caG>caC	p.Q197H	ARFRP1_ENST00000324228.2_Missense_Mutation_p.Q197H|ARFRP1_ENST00000485858.1_5'UTR|ARFRP1_ENST00000440854.1_3'UTR			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	197					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			TGATGTCCCTCTGCCGCGGCG	0.682													3	62					0	0	0	0	G	62331810	C	G	62331810	3	3	209	1	0	0	0	0	1	0	0	0	858	912	32	2	18	2	ARFRP1	20	62331810	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	4902714	62331810	693710	204	37223											
BAGE2	85319	broad.mit.edu	37	chr21	11038927	11038927	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaagacacatctgcCttgcttatgtctgctgataa	10	11	12	8	0	2	2	0	1	2	1	2	4	2	4	1	3	3	2	1	3	3	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr21:11038927C>T	ENST00000470054.1	-	0	1276									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACACATCTGCCTTGCTTATGT	0.428													14	429					0	0	0	0	T	11038927	C	T	11038927	1	4	209	0	1	0	0	0	0	0	0	0	1296	696	24	4		4	BAGE2	21	11038927	RNA	SNP	C	TCGA-CR-7386-01A-11D-2012-08		11038927	37090968	205	37224											
SON	6651	broad.mit.edu	37	chr21	34923116	34923116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacggtggaacatcctgggCatcctgaggtgacaacggca	11	6	13	11	2	0	2	0	2	0	0	2	3	2	3	2	5	3	2	2	5	3	0			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr21:34923116C>T	ENST00000356577.4	+	3	2054	c.1579C>T	c.(1579-1581)Cat>Tat	p.H527Y	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.H527Y|SON_ENST00000300278.4_Missense_Mutation_p.H527Y|SON_ENST00000290239.6_Missense_Mutation_p.H527Y	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	527					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ACATCCTGGGCATCCTGAGGT	0.592													21	125					0	0	0	0	T	34923116	C	T	34923116	3	4	209	1	0	0	0	0	1	0	0	0	15014	710	25	4	1589	4	SON	21	34923116	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	23884189	34923116	13206779	206	37225											
TTC3	7267	broad.mit.edu	37	chr21	38525425	38525425	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaacctgtttttctagcaGaaattttctaaatgaagcag	14	14	6	7	0	2	2	0	1	2	1	2	2	2	2	1	0	4	3	1	0	7	7			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr21:38525425G>C	ENST00000399017.2	+	27	5335	c.2588G>C	c.(2587-2589)aGa>aCa	p.R863T	TTC3_ENST00000540756.1_Missense_Mutation_p.R553T|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.R863T|TTC3_ENST00000355666.1_Missense_Mutation_p.R863T	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	863					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTTTCTAGCAGAAATTTTCTA	0.348													18	86					0	0	0	0	C	38525425	G	C	38525425	3	2	209	1	0	0	0	0	1	0	0	0	16793	942	33	2	2690	2	TTC3	21	38525425	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	3602309	38525425	9604470	207	37226											
MYH9	4627	broad.mit.edu	37	chr22	36708234	36708234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggggaaccagcactcctCgtccagcagggccagaatgc	9	7	12	13	1	0	1	0	0	0	1	3	2	2	2	4	3	4	2	4	3	2	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr22:36708234C>T	ENST00000216181.5	-	14	1818	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	530	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.E530K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGCACTCCTCGTCCAGCAGG	0.637			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				12	65					0	0	0	0	T	36708234	C	T	36708234	3	4	209	1	0	0	0	0	1	0	0	0	10112	893	31	1	4406	1	MYH9	22	36708234	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08		36708234	14596332	208	37227											
DCAF8L1	139425	broad.mit.edu	37	chrX	27999311	27999311	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtatcaccaccatctccggtCgatggctctgtggctgccat	6	11	10	14	2	3	0	1	0	2	0	5	1	3	0	4	3	1	3	4	3	1	1			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:27999311C>G	ENST00000441525.1	-	1	255	c.141G>C	c.(139-141)tcG>tcC	p.S47S		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	47										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CATCTCCGGTCGATGGCTCTG	0.532													9	28					0	0	0	0	G	27999311	C	G	27999311	2	3	209	1	0	0	0	0	0	0	0	1	4310	871	31	3		3	DCAF8L1	23	27999311	Silent	SNP	C	TCGA-CR-7386-01A-11D-2012-08		27999311	127271249	209	37228											
XK	7504	broad.mit.edu	37	chrX	37587032	37587032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcctgtggaggagctttGagattgccactcgagttgta	7	14	12	8	1	1	1	0	1	1	1	3	5	2	3	2	2	2	3	2	2	1	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:37587032G>C	ENST00000378616.3	+	3	855	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	218					amino acid transport	integral to membrane	protein binding|transporter activity	p.E218K(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GAGGAGCTTTGAGATTGCCAC	0.458													8	17					0	0	0	0	C	37587032	G	C	37587032	3	2	209	1	0	0	0	0	1	0	0	0	17527	1291	45	2	662	2	XK	23	37587032	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	9587721	37587032	117683528	210	37229											
SHROOM4	57477	broad.mit.edu	37	chrX	50377069	50377069	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctctcaggggcttggctGaggcactcggaagacctagc	7	8	15	11	1	1	2	1	1	1	1	3	3	1	3	1	6	1	4	1	6	2	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:50377069G>A	ENST00000376020.2	-	4	2029	c.2004C>T	c.(2002-2004)ctC>ctT	p.L668L	SHROOM4_ENST00000289292.7_Silent_p.L668L|SHROOM4_ENST00000460112.3_Silent_p.L552L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	668					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGGCTTGGCTGAGGCACTCGG	0.527													7	15					0	0	0	0	A	50377069	G	A	50377069	2	1	209	1	0	0	0	0	0	0	0	1	14384	1277	45	2		2	SHROOM4	23	50377069	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	12790037	50377069	104893491	211	37230			1	57		3	3	788	G		1.514198e-05
SHROOM4	57477	broad.mit.edu	37	chrX	50377082	50377082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggctgaggcactcggaaGacctagctctgagcatcatg	9	9	12	11	1	2	3	1	2	1	1	3	4	2	4	1	3	2	4	1	3	2	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:50377082G>A	ENST00000376020.2	-	4	2016	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F	SHROOM4_ENST00000289292.7_Missense_Mutation_p.S664F|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S548F	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	664					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCACTCGGAAGACCTAGCTCT	0.532													9	17					0	0	0	0	A	50377082	G	A	50377082	3	1	209	1	0	0	0	0	1	0	0	0	14384	942	33	2	2514	2	SHROOM4	23	50377082	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	13	50377082	104893478	212	37231			1	57		3	3	788	G		1.514198e-05
SHROOM4	57477	broad.mit.edu	37	chrX	50377856	50377856	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactatggcgatgccctGtgggtcctatgagatgtgga	7	10	16	8	1	0	1	0	1	0	1	1	4	1	2	2	4	1	1	2	4	2	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:50377856G>C	ENST00000376020.2	-	4	1242	c.1217C>G	c.(1216-1218)aCa>aGa	p.T406R	SHROOM4_ENST00000289292.7_Missense_Mutation_p.T406R|SHROOM4_ENST00000460112.3_Missense_Mutation_p.T290R	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	406					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCGATGCCCTGTGGGTCCTAT	0.567													5	11					0	0	0	0	C	50377856	G	C	50377856	3	2	209	1	0	0	0	0	1	0	0	0	14384	1377	48	4	3288	4	SHROOM4	23	50377856	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	774	50377856	104892704	213	37232			1	57		3	3	788	G		1.514198e-05
ATP7A	538	broad.mit.edu	37	chrX	77243873	77243873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctctccctgttttaactGacaccttgtttctgactgtt	6	17	5	13	0	2	2	0	2	2	0	3	2	2	2	3	0	1	3	3	0	1	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:77243873G>A	ENST00000341514.6	+	3	411	c.256G>A	c.(256-258)Gac>Aac	p.D86N	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.D86N	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	86					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TGTTTTAACTGACACCTTGTT	0.443													72	166					0	0	0	0	A	77243873	G	A	77243873	3	1	209	1	0	0	0	0	1	0	0	0	1194	1290	45	2	262	2	ATP7A	23	77243873	Missense_Mutation	SNP	G	TCGA-CR-7386-01A-11D-2012-08	26866017	77243873	78026687	214	37233											
MID2	11043	broad.mit.edu	37	chrX	107169397	107169397	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgatggattgcagatggaGaaggatgaaagctctctaaa	16	9	12	4	0	1	4	0	2	1	2	2	7	1	6	0	3	2	2	0	3	5	2			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:107169397G>A	ENST00000262843.6	+	9	2219	c.1671G>A	c.(1669-1671)gaG>gaA	p.E557E	MID2_ENST00000443968.2_Silent_p.E527E|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	557	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCAGATGGAGAAGGATGAAA	0.423													19	51					0	0	0	0	A	107169397	G	A	107169397	2	1	209	1	0	0	0	0	0	0	0	1	9647	933	33	2		2	MID2	23	107169397	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	29925524	107169397	48101163	215	37234											
AFF2	2334	broad.mit.edu	37	chrX	148059934	148059934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttgagaatgtttaagctGaagaaggaccatgctatgaa	15	12	10	4	0	0	4	0	3	0	2	0	6	0	5	1	1	2	3	1	1	7	5			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:148059934G>A	ENST00000370460.2	+	18	3998	c.3519G>A	c.(3517-3519)ctG>ctA	p.L1173L	AFF2_ENST00000370457.5_Silent_p.L1138L|AFF2_ENST00000342251.3_Silent_p.L1140L|AFF2_ENST00000286437.5_Silent_p.L814L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1173					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTTAAGCTGAAGAAGGACC	0.348													10	43					0	0	0	0	A	148059934	G	A	148059934	2	1	209	1	0	0	0	0	0	0	0	1	357	1277	45	2		2	AFF2	23	148059934	Silent	SNP	G	TCGA-CR-7386-01A-11D-2012-08	40890537	148059934	7210626	216	37235											
FAM3A	60343	broad.mit.edu	37	chrX	153735753	153735753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacttggtggctgggtcgtCgtaggatgccacgaacacca	8	9	13	11	3	0	0	0	0	0	0	2	2	0	1	2	4	3	2	2	4	3	3			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:153735753C>T	ENST00000434658.2	-	6	872	c.403G>A	c.(403-405)Gac>Aac	p.D135N	FAM3A_ENST00000393572.1_Missense_Mutation_p.D114N|FAM3A_ENST00000369641.3_Missense_Mutation_p.D159N|FAM3A_ENST00000447601.2_Missense_Mutation_p.D152N|FAM3A_ENST00000359889.5_Missense_Mutation_p.D152N|FAM3A_ENST00000369643.1_Missense_Mutation_p.D152N	NM_001171134.1	NP_001164605.1	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	152						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGGGTCGTCGTAGGATGCC	0.602													8	16					0	0	0	0	T	153735753	C	T	153735753	3	4	209	1	0	0	0	0	1	0	0	0	5603	884	31	1	250	1	FAM3A	23	153735753	Missense_Mutation	SNP	C	TCGA-CR-7386-01A-11D-2012-08	5675819	153735753	1534807	217	37236											
SAMD11	148398	broad.mit.edu	37	chr1	871231	871231	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgagcatcagagccgcTgtgaattccagagaggcagc	10	6	13	12	2	1	3	1	1	0	2	2	5	2	3	3	1	4	3	3	1	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:871231T>A	ENST00000342066.3	+	5	468	c.385T>A	c.(385-387)Tgt>Agt	p.C129S		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	129				C -> L (in Ref. 2; AAH24295).		nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TCAGAGCCGCTGTGAATTCCA	0.672													24	70					0	0	0	0	A	871231	T	A	871231	3	1	210	1	0	0	0	0	1	0	0	0	13901	1580	55	5	399	5	SAMD11	1	871231	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08		871231	248379390	1	37237											
PLEKHN1	84069	broad.mit.edu	37	chr1	901962	901964	+	In_Frame_Del	DEL	CTT	CTT	-																															cccaggaggctccgggcctcCttctccagaaagccctcgct																								rs146294016		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:901962_901964delCTT	ENST00000379409.2	+	1	81_83	c.51_53delCTT	c.(49-54)tcc>tc	p.SF17del	PLEKHN1_ENST00000379407.2_In_Frame_Del_p.SF17del|PLEKHN1_ENST00000379410.3_In_Frame_Del_p.SF17del			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	17										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TCCGGGCCTCCTTCTCCAGAAAG	0.69													14	37	---	---	---	---					-	901964	CTT	-	901962	7	5	210	1	0	1	0	1	0	0	0	0	12155	668	24	0	53	0	PLEKHN1	1	901962	In_Frame_Del	DEL	CTT	TCGA-CR-7388-01A-11D-2012-08	30731	901962	248348659	2	37238											
ICMT	23463	broad.mit.edu	37	chr1	6291999	6291999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtaaaaccacccgacgtaaGaaggatgccgaaaccaagcg	17	3	10	11	4	0	1	0	0	0	1	0	4	0	2	4	1	4	2	4	1	6	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:6291999G>C	ENST00000343813.5	-	4	663	c.635C>G	c.(634-636)tCt>tGt	p.S212C		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	212					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCCGACGTAAGAAGGATGCCG	0.373													3	51					0	0	0	0	C	6291999	G	C	6291999	3	2	210	1	0	0	0	0	1	0	0	0	7538	942	33	2	227	2	ICMT	1	6291999	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	5390037	6291999	242958622	3	37239											
TNFRSF9	3604	broad.mit.edu	37	chr1	7999954	7999954	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatgataactgggtactcaCcagctgggcagttactacaa	13	9	9	10	0	1	1	1	1	0	0	1	1	1	1	1	2	5	4	1	2	5	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:7999954C>T	ENST00000377507.3	-	2	267		c.e2+1			NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9						induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGTACTCACCAGCTGGGCA	0.453													21	48					0	0	0	0	T	7999954	C	T	7999954	5	4	210	1	0	0	0	0	0	0	1	0	16394	521	18	4	694	4	TNFRSF9	1	7999954	Splice_Site	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1707955	7999954	241250667	4	37240											
PEX14	5195	broad.mit.edu	37	chr1	10659315	10659315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgacagatgaagagattGatatggccttccagcagtcg	11	9	13	8	1	0	5	0	3	0	2	2	6	1	5	2	2	1	2	2	2	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:10659315G>A	ENST00000356607.4	+	4	270	c.190G>A	c.(190-192)Gat>Aat	p.D64N	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	64					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TGAAGAGATTGATATGGCCTT	0.542													11	94					0	0	0	0	A	10659315	G	A	10659315	3	1	210	1	0	0	0	0	1	0	0	0	11814	1290	45	2	204	2	PEX14	1	10659315	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2659361	10659315	238591306	5	37241											
MTOR	2475	broad.mit.edu	37	chr1	11206848	11206848	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccatgctgtcccactgaCctatacacacacacatagac	12	9	4	16	0	0	2	0	1	0	1	2	2	2	2	3	0	2	1	3	0	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:11206848C>A	ENST00000361445.4	-	32	4647	c.4570_splice	c.e32-1	p.G1524_splice	MTOR-AS1_ENST00000420480.1_RNA|MTOR-AS1_ENST00000445982.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1524	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GTCCCACTGACCTATACACAC	0.488													18	40					1.33834e-09	2.95887e-09	1	0	A	11206848	C	A	11206848	5	1	210	1	0	0	0	0	0	0	1	0	10024	521	18	4	3186	4	MTOR	1	11206848	Splice_Site	SNP	C	TCGA-CR-7388-01A-11D-2012-08	547533	11206848	238043773	6	37242											
UBIAD1	29914	broad.mit.edu	37	chr1	11334044	11334044	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcttgcctctactacctGtcccctctgaaactggagca	7	10	8	16	1	2	1	0	1	2	0	3	2	3	2	5	1	5	2	5	1	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:11334044G>C	ENST00000376810.5	+	1	782	c.456G>C	c.(454-456)ctG>ctC	p.L152L	UBIAD1_ENST00000376804.2_Silent_p.L152L	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	152					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TCTACTACCTGTCCCCTCTGA	0.557													8	57					0	0	0	0	C	11334044	G	C	11334044	2	2	210	1	0	0	0	0	0	0	0	1	16981	1364	48	4		4	UBIAD1	1	11334044	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	127196	11334044	237916577	7	37243											
AADACL4	343066	broad.mit.edu	37	chr1	12726424	12726424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taagaacagaggctaccaacCctggtctcccggccctttta	10	9	8	14	1	1	2	0	0	1	2	2	2	1	2	4	3	3	1	4	3	5	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:12726424C>T	ENST00000376221.1	+	4	902	c.902C>T	c.(901-903)cCc>cTc	p.P301L		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	301						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGCTACCAACCCTGGTCTCCC	0.493													28	92					0	0	0	0	T	12726424	C	T	12726424	3	4	210	1	0	0	0	0	1	0	0	0	13	623	22	4	916	4	AADACL4	1	12726424	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1392380	12726424	236524197	8	37244											
NBPF1	55672	broad.mit.edu	37	chr1	16907918	16907918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagtattcagtgttacctgGgggcagatgattccagtact	9	13	12	7	0	1	3	1	2	0	1	2	3	2	3	2	2	2	4	2	2	3	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:16907918G>T	ENST00000430580.2	-	15	2263	c.1376C>A	c.(1375-1377)cCc>cAc	p.P459H		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	459	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GTGTTACCTGGGGGCAGATGA	0.433													9	528					0.000978159	0.00187802	1	0	T	16907918	G	T	16907918	3	4	210	1	0	0	0	0	1	0	0	0	10262	1232	43	4	2108	4	NBPF1	1	16907918	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	4181494	16907918	232342703	9	37245											
PAX7	5081	broad.mit.edu	37	chr1	19062184	19062184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagccacaggctgacttctCcatctccccgctgcatggcg	6	8	10	17	2	2	1	0	1	2	0	4	1	2	1	4	2	2	4	4	2	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:19062184C>A	ENST00000420770.2	+	8	1297	c.1214C>A	c.(1213-1215)tCc>tAc	p.S405Y	PAX7_ENST00000400661.3_Missense_Mutation_p.S403Y|PAX7_ENST00000375375.3_Missense_Mutation_p.S405Y	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	405					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GCTGACTTCTCCATCTCCCCG	0.657			T	FOXO1A	alveolar rhabdomyosarcoma								21	65					3.51602e-12	8.13282e-12	1	0	A	19062184	C	A	19062184	3	1	210	1	0	0	0	0	1	0	0	0	11555	855	30	2	1244	2	PAX7	1	19062184	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2154266	19062184	230188437	10	37246											
ALPL	249	broad.mit.edu	37	chr1	21889671	21889671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctacctgtgtggggtgaaGgccaatgagggcaccgtggg	7	7	18	9	1	0	2	0	2	0	0	0	2	0	2	4	5	1	1	4	5	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:21889671G>T	ENST00000374840.3	+	5	616	c.366G>T	c.(364-366)aaG>aaT	p.K122N	ALPL_ENST00000374832.1_Missense_Mutation_p.K122N|ALPL_ENST00000540617.1_Missense_Mutation_p.K67N|ALPL_ENST00000539907.1_Missense_Mutation_p.K45N|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.K122N	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	122					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GTGGGGTGAAGGCCAATGAGG	0.657													13	66					0.000151284	0.00029664	1	0	T	21889671	G	T	21889671	3	4	210	1	0	0	0	0	1	0	0	0	547	991	35	4	380	4	ALPL	1	21889671	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2827487	21889671	227360950	11	37247											
E2F2	1870	broad.mit.edu	37	chr1	23848419	23848419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcgccgcttctgcacgTccagcacctcagcggcccag	7	6	11	17	4	2	1	1	0	1	1	3	1	3	1	4	1	4	3	4	1	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:23848419T>C	ENST00000361729.2	-	3	914	c.488A>G	c.(487-489)gAc>gGc	p.D163G		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	163	Leucine-zipper.				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTTCTGCACGTCCAGCACCTC	0.567													4	71					0	0	0	0	C	23848419	T	C	23848419	3	2	210	1	0	0	0	0	1	0	0	0	4903	1667	58	5	845	5	E2F2	1	23848419	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	1958748	23848419	225402202	12	37248											
HMGCL	3155	broad.mit.edu	37	chr1	24137224	24137224	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccctgacacatgcacacAcctcagctactttagctggg	9	8	8	16	1	1	1	1	1	0	0	1	1	1	1	3	1	4	3	3	1	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:24137224A>C	ENST00000374483.4	-	7	1158		c.e7+1		HMGCL_ENST00000374490.3_Splice_Site|HMGCL_ENST00000436439.2_Intron|HMGCL_ENST00000509389.1_Intron			P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase						acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		ACATGCACACACCTCAGCTAC	0.582											OREG0013233	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	22					0	0	0	0	C	24137224	A	C	24137224	5	2	210	1	0	0	0	0	0	0	1	0	7279	173	6	5	430	5	HMGCL	1	24137224	Splice_Site	SNP	A	TCGA-CR-7388-01A-11D-2012-08	288805	24137224	225113397	13	37249											
ZNF683	257101	broad.mit.edu	37	chr1	26691026	26691026	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccaggaggcagataccttGagattggagagctgcccaaa	12	6	13	10	0	0	3	0	1	0	3	0	6	0	4	3	3	3	2	3	3	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:26691026G>C	ENST00000436292.1	-	4	1131	c.1011C>G	c.(1009-1011)ctC>ctG	p.L337L	ZNF683_ENST00000403843.1_Silent_p.L337L|ZNF683_ENST00000374204.1_Silent_p.L337L|ZNF683_ENST00000349618.3_Silent_p.L337L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CAGATACCTTGAGATTGGAGA	0.537													34	131					0	0	0	0	C	26691026	G	C	26691026	2	2	210	1	0	0	0	0	0	0	0	1	18185	1277	45	2		2	ZNF683	1	26691026	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2553802	26691026	222559595	14	37250											
ARID1A	8289	broad.mit.edu	37	chr1	27092740	27092740	+	Frame_Shift_Del	DEL	G	G	-																															gctaccccaatatgaatcaaGggggcatgatgggaactgga																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:27092740delG	ENST00000324856.7	+	9	3132	c.2761delG	c.(2761-2763)ggfs	p.G922fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.G922fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.G539fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	922					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGAATCAAGGGGGCATGAT	0.483			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								10	60	---	---	---	---					-	27092740	G	-	27092740	7	5	210	1	0	1	0	1	0	0	0	0	915	1000	35	0	2795	0	ARID1A	1	27092740	Frame_Shift_Del	DEL	G	TCGA-CR-7388-01A-11D-2012-08	401714	27092740	222157881	15	37251											
AHDC1	27245	broad.mit.edu	37	chr1	27878118	27878118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgttggccaaactgggtGaggagaagaagctgtactgt	10	10	15	6	0	0	3	0	1	0	2	0	4	0	3	1	3	4	4	1	3	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:27878118G>A	ENST00000374011.2	-	6	1477	c.509C>T	c.(508-510)tCa>tTa	p.S170L	AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.S170L	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	170	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CAAACTGGGTGAGGAGAAGAA	0.662													6	127					0	0	0	0	A	27878118	G	A	27878118	3	1	210	1	0	0	0	0	1	0	0	0	412	1294	45	2	4306	2	AHDC1	1	27878118	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	785378	27878118	221372503	16	37252											
PTPRU	10076	broad.mit.edu	37	chr1	29652139	29652139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacttttgctacgatgtggCcctggagtacttggaggggc	6	11	14	10	1	0	0	0	0	0	0	0	3	0	2	2	5	3	2	2	5	2	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:29652139C>T	ENST00000373779.3	+	30	4406	c.4277C>T	c.(4276-4278)gCc>gTc	p.A1426V	PTPRU_ENST00000428026.2_Missense_Mutation_p.A1423V|PTPRU_ENST00000356870.3_Missense_Mutation_p.A1432V|PTPRU_ENST00000345512.3_Missense_Mutation_p.A1436V|PTPRU_ENST00000460170.2_Missense_Mutation_p.A1430V|PTPRU_ENST00000323874.8_Missense_Mutation_p.A1432V	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1436	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TACGATGTGGCCCTGGAGTAC	0.622													13	72					0	0	0	0	T	29652139	C	T	29652139	3	4	210	1	0	0	0	0	1	0	0	0	12895	739	26	4	4451	4	PTPRU	1	29652139	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1774021	29652139	219598482	17	37253											
PUM1	9698	broad.mit.edu	37	chr1	31414879	31414879	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgctggtgaagctccTctaaaatagggagtgtctgg	8	12	14	7	0	2	1	0	1	2	0	3	2	3	2	1	3	2	2	1	3	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:31414879T>A	ENST00000373747.3	-	19	3188	c.3089A>T	c.(3088-3090)gAg>gTg	p.E1030V	PUM1_ENST00000373741.4_Missense_Mutation_p.E1065V|PUM1_ENST00000257075.5_Missense_Mutation_p.E1027V|PUM1_ENST00000373742.2_Missense_Mutation_p.E968V|PUM1_ENST00000423018.2_Missense_Mutation_p.E885V|PUM1_ENST00000440538.2_Missense_Mutation_p.E1003V|PUM1_ENST00000426105.2_Missense_Mutation_p.E1029V|PUM1_ENST00000424085.2_Missense_Mutation_p.E785V	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1027	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GTGAAGCTCCTCTAAAATAGG	0.517													27	117					0	0	0	0	A	31414879	T	A	31414879	3	1	210	1	0	0	0	0	1	0	0	0	12907	1551	54	5	496	5	PUM1	1	31414879	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	1762740	31414879	217835742	18	37254											
THRAP3	9967	broad.mit.edu	37	chr1	36755352	36755352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccggatggactcttttgatGaggacctcgcacggtgagat	8	11	13	9	3	1	3	0	3	1	1	3	7	2	6	2	4	0	1	2	4	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:36755352G>A	ENST00000354618.5	+	5	1956	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	THRAP3_ENST00000469141.2_Missense_Mutation_p.E578K|THRAP3_ENST00000466743.1_3'UTR	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	578					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCTTTTGATGAGGACCTCGC	0.512			T	USP6	aneurysmal bone cysts								5	48					0	0	0	0	A	36755352	G	A	36755352	3	1	210	1	0	0	0	0	1	0	0	0	15968	1291	45	2	1742	2	THRAP3	1	36755352	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	5340473	36755352	212495269	19	37255											
PARS2	25973	broad.mit.edu	37	chr1	55224789	55224789	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagctggcggctgcaggTggccagggcgggcaatgctc	7	5	19	10	2	0	1	0	0	0	1	1	2	0	1	1	6	3	5	1	6	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:55224789T>A	ENST00000371279.3	-	2	128	c.46A>T	c.(46-48)Acc>Tcc	p.T16S		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	16					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CGGCTGCAGGTGGCCAGGGCG	0.597													5	25					0	0	0	0	A	55224789	T	A	55224789	3	1	210	1	0	0	0	0	1	0	0	0	11538	1696	59	5	1385	5	PARS2	1	55224789	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	18469437	55224789	194025832	20	37256											
C8A	731	broad.mit.edu	37	chr1	57378249	57378249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccagctgcaggtgccaGtgccgcctgggtagcttggg	5	7	17	12	1	0	0	0	0	0	0	0	0	0	0	4	4	5	5	4	4	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:57378249G>T	ENST00000361249.3	+	10	1650	c.1554G>T	c.(1552-1554)caG>caT	p.Q518H		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	518	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GCAGGTGCCAGTGCCGCCTGG	0.602													21	69					1.50039e-11	3.41636e-11	1	0	T	57378249	G	T	57378249	3	4	210	1	0	0	0	0	1	0	0	0	2439	1020	36	4	1592	4	C8A	1	57378249	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2153460	57378249	191872372	21	37257											
SLC35D1	23169	broad.mit.edu	37	chr1	67507918	67507918	+	Splice_Site	DEL	C	C	-																															accgtaattagaaagtcctaCcttttgtgcatctcctgtga																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:67507918delC	ENST00000235345.5	-	8	815		c.e8+1		SLC35D1_ENST00000506472.2_Splice_Site	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1						chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	GAAAGTCCTACCTTTTGTGCA	0.383													45	192	---	---	---	---					-	67507918	C	-	67507918	8	5	210	1	0	1	0	1	0	0	1	0	14669	521	18	0	357	0	SLC35D1	1	67507918	Splice_Site	DEL	C	TCGA-CR-7388-01A-11D-2012-08	10129669	67507918	181742703	22	37258											
C1orf141	400757	broad.mit.edu	37	chr1	67558779	67558779	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatatatttaaaaggctttGagtaacatttgacaggtaag	16	14	8	3	0	0	2	0	2	0	0	0	2	0	2	0	2	1	3	0	2	7	9			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:67558779G>C	ENST00000371007.2	-	8	1221	c.1112C>G	c.(1111-1113)tCa>tGa	p.S371*	C1orf141_ENST00000544837.1_Nonsense_Mutation_p.S371*|C1orf141_ENST00000371006.1_Nonsense_Mutation_p.S371*	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	371										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						AAAAGGCTTTGAGTAACATTT	0.318													8	59					0	0	0	0	C	67558779	G	C	67558779	4	2	210	1	0	0	0	0	0	1	0	0	2020	1294	45	2	94	2	C1orf141	1	67558779	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	50861	67558779	181691842	23	37259											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507579	74507579	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatatcctaaaactggtatCcaatttttcatccacaattt	13	16	3	9	0	1	1	1	1	0	0	4	1	4	1	3	1	1	1	3	1	6	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:74507579C>A	ENST00000354431.4	-	7	1227	c.1036G>T	c.(1036-1038)Gat>Tat	p.D346Y	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.D346Y	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	346								p.D346Y(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAACTGGTATCCAATTTTTCA	0.308													12	39					4.36969e-10	9.75935e-10	1	0	A	74507579	C	A	74507579	3	1	210	1	0	0	0	0	1	0	0	0	9094	855	30	2	846	2	LRRIQ3	1	74507579	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	6948800	74507579	174743042	24	37260											
C1orf173	127254	broad.mit.edu	37	chr1	75036823	75036823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agacctgcacgttgttggggGaaacatctgcagtctcgctt	8	11	12	10	2	2	1	0	0	2	1	3	2	2	2	1	2	3	5	1	2	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:75036823G>A	ENST00000326665.5	-	14	4789	c.4571C>T	c.(4570-4572)tCc>tTc	p.S1524F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1524										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						GTTGTTGGGGGAAACATCTGC	0.512													19	114					0	0	0	0	A	75036823	G	A	75036823	3	1	210	1	0	0	0	0	1	0	0	0	2033	1174	41	2	25	2	C1orf173	1	75036823	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	529244	75036823	174213798	25	37261											
C1orf173	127254	broad.mit.edu	37	chr1	75037379	75037379	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccgtgtagaacttccacagCcacaacccttcctcctccca	9	9	4	19	1	0	1	0	0	0	1	5	1	5	1	7	0	3	1	7	0	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:75037379C>G	ENST00000326665.5	-	14	4233	c.4015G>C	c.(4015-4017)Gct>Cct	p.A1339P	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1339	Glu-rich.									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						ACTTCCACAGCCACAACCCTT	0.557													29	84					0	0	0	0	G	75037379	C	G	75037379	3	3	210	1	0	0	0	0	1	0	0	0	2033	739	26	4	581	4	C1orf173	1	75037379	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	556	75037379	174213242	26	37262											
USP33	23032	broad.mit.edu	37	chr1	78200086	78200086	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaagtatttccaatatttTtcaaacctgtaagacctatt	15	15	3	8	0	1	1	1	0	0	1	2	1	2	1	3	0	2	2	3	0	8	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:78200086T>C	ENST00000370793.1	-	8	909	c.563A>G	c.(562-564)aAa>aGa	p.K188R	USP33_ENST00000370792.3_Missense_Mutation_p.K188R|USP33_ENST00000370794.3_Missense_Mutation_p.K157R|USP33_ENST00000357428.1_Missense_Mutation_p.K188R	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	188					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TCCAATATTTTTCAAACCTGT	0.264													5	20					0	0	0	0	C	78200086	T	C	78200086	3	2	210	1	0	0	0	0	1	0	0	0	17160	1841	64	5	2349	5	USP33	1	78200086	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	3162707	78200086	171050535	27	37263											
SPATA1	100505741	broad.mit.edu	37	chr1	84991680	84991680	+	RNA	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattagtgtaactttgttCaaggaggaacttggaagaga	14	11	11	5	0	1	1	1	0	0	1	1	5	1	4	1	3	2	2	1	3	6	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:84991680C>A	ENST00000370638.2	+	0	733									spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		TAACTTTGTTCAAGGAGGAAC	0.373													6	33					1.12685e-05	2.26795e-05	1	0	A	84991680	C	A	84991680	1	1	210	0	1	0	0	0	0	0	0	0	15088	825	29	2		2	SPATA1	1	84991680	RNA	SNP	C	TCGA-CR-7388-01A-11D-2012-08	6791594	84991680	164258941	28	37264											
BCL10	8915	broad.mit.edu	37	chr1	85733496	85733496	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttctagaacaggcaaattCagagaagaattagtagaaaa	20	8	8	5	0	2	4	1	0	1	4	2	5	2	4	0	1	1	2	0	1	9	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:85733496C>T	ENST00000370580.1	-	3	1253	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	172					apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CAGGCAAATTCAGAGAAGAAT	0.463			T	IGH@	MALT								14	55					0	0	0	0	T	85733496	C	T	85733496	2	4	210	1	0	0	0	0	0	0	0	1	1366	813	29	2		2	BCL10	1	85733496	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	741816	85733496	163517125	29	37265											
HFM1	164045	broad.mit.edu	37	chr1	91782033	91782033	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgcatttgacaatgttataCctgtggaaaattaatcaaac	15	14	6	6	0	1	1	1	1	0	0	1	2	1	2	1	1	3	2	1	1	7	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:91782033C>A	ENST00000370425.3	-	26	2911	c.2812_splice	c.e26-1	p.G938_splice	HFM1_ENST00000370424.3_Splice_Site_p.G617_splice|HFM1_ENST00000294696.5_Splice_Site_p.G170_splice|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	938	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAATGTTATACCTGTGGAAAA	0.239													9	48					1.12685e-05	2.26795e-05	1	0	A	91782033	C	A	91782033	5	1	210	1	0	0	0	0	0	0	1	0	7133	521	18	4	1550	4	HFM1	1	91782033	Splice_Site	SNP	C	TCGA-CR-7388-01A-11D-2012-08	6048537	91782033	157468588	30	37266											
GCLM	2730	broad.mit.edu	37	chr1	94354598	94354598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccttttgatttgataattCctctacttttcacaatgacc	10	17	4	10	0	2	3	1	3	1	0	3	3	3	3	3	0	2	0	3	0	3	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:94354598C>T	ENST00000370238.3	-	7	1019	c.773G>A	c.(772-774)gGa>gAa	p.G258E		NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	258					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	TTTGATAATTCCTCTACTTTT	0.413													5	65					0	0	0	0	T	94354598	C	T	94354598	3	4	210	1	0	0	0	0	1	0	0	0	6345	855	30	2	55	2	GCLM	1	94354598	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2572565	94354598	154896023	31	37267											
ARHGAP29	9411	broad.mit.edu	37	chr1	94650455	94650455	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaaagctctattttcaatCtctgaggcacatattttgag	12	14	6	9	0	3	2	1	2	2	0	4	2	3	2	0	1	1	2	0	1	4	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:94650455C>T	ENST00000260526.6	-	18	2264	c.2082G>A	c.(2080-2082)gaG>gaA	p.E694E	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	694	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TATTTTCAATCTCTGAGGCAC	0.323													6	44					0	0	0	0	T	94650455	C	T	94650455	2	4	210	1	0	0	0	0	0	0	0	1	880	912	32	2		2	ARHGAP29	1	94650455	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	295857	94650455	154600166	32	37268											
DBT	1629	broad.mit.edu	37	chr1	100681578	100681578	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtctttgcctgtgaataccgGaggttttgatactagtatag	9	15	11	6	1	1	2	0	2	1	0	1	3	1	3	2	2	3	2	2	2	6	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:100681578G>C	ENST00000370132.3	-	6	746	c.733C>G	c.(733-735)Ccg>Gcg	p.P245A	DBT_ENST00000370131.3_Missense_Mutation_p.P245A	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	245					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GTGAATACCGGAGGTTTTGAT	0.388													18	101					0	0	0	0	C	100681578	G	C	100681578	3	2	210	1	0	0	0	0	1	0	0	0	4291	1174	41	2	739	2	DBT	1	100681578	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	6031123	100681578	148569043	33	37269											
SLC30A7	148867	broad.mit.edu	37	chr1	101361893	101361893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcggcaagatctcgggctgGtttaggtgcggggtgctgtg	4	12	18	7	3	1	1	0	0	1	1	3	1	1	1	0	6	2	4	0	6	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:101361893G>T	ENST00000370112.4	+	1	262	c.75G>T	c.(73-75)tgG>tgT	p.W25C	SLC30A7_ENST00000357650.4_Missense_Mutation_p.W25C	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	25					zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TCTCGGGCTGGTTTAGGTGCG	0.587													10	63					0.000673444	0.0012944	1	0	T	101361893	G	T	101361893	3	4	210	1	0	0	0	0	1	0	0	0	14648	1270	44	4	77	4	SLC30A7	1	101361893	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	680315	101361893	147888728	34	37270											
DDX20	11218	broad.mit.edu	37	chr1	112304903	112304903	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatcagaatcagcgtcttGatgctatggctaaactgaag	13	11	10	7	1	3	4	2	3	1	1	3	4	3	4	0	1	3	2	0	1	6	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:112304903G>C	ENST00000369702.4	+	8	1668	c.1048G>C	c.(1048-1050)Gat>Cat	p.D350H	DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	350	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGCGTCTTGATGCTATGGC	0.353													4	90					0	0	0	0	C	112304903	G	C	112304903	3	2	210	1	0	0	0	0	1	0	0	0	4380	1290	45	2	1078	2	DDX20	1	112304903	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	10943010	112304903	136945718	35	37271											
RSBN1	54665	broad.mit.edu	37	chr1	114354824	114354824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaggtttctccttcccctCtttgtccggctcctcctgcg	2	15	8	16	2	2	1	0	1	2	0	7	1	6	1	6	2	1	2	6	2	0	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:114354824C>G	ENST00000261441.5	-	1	274	c.211G>C	c.(211-213)Gag>Cag	p.E71Q		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	71						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTTCCCCTCTTTGTCCGGC	0.652													4	108					0	0	0	0	G	114354824	C	G	114354824	3	3	210	1	0	0	0	0	1	0	0	0	13781	922	32	2	2225	2	RSBN1	1	114354824	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2049921	114354824	134895797	36	37272											
NRAS	4893	broad.mit.edu	37	chr1	115256551	115256551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagctgtatccagtatgtCcaacaaacaggtttcaccat	12	11	6	12	0	1	0	1	0	0	0	4	0	4	0	4	1	3	4	4	1	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:115256551C>A	ENST00000369535.4	-	3	413	c.160G>T	c.(160-162)Gac>Tac	p.D54Y		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	54					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity			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)		TCCAGTATGTCCAACAAACAG	0.458		50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			32	97					4.34311e-12	9.96694e-12	1	0	A	115256551	C	A	115256551	3	1	210	1	0	0	0	0	1	0	0	0	10711	855	30	2	421	2	NRAS	1	115256551	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	901727	115256551	133994070	37	37273											
TTF2	8458	broad.mit.edu	37	chr1	117624455	117624455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttttattttctagcagatGatatgggcttaggaaaaacc	12	14	9	6	0	1	2	0	1	1	1	1	3	1	3	1	2	2	3	1	2	6	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:117624455G>A	ENST00000369466.3	+	10	1833	c.1789G>A	c.(1789-1791)Gat>Aat	p.D597N		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	597	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCTAGCAGATGATATGGGCTT	0.403													8	43					0	0	0	0	A	117624455	G	A	117624455	3	1	210	1	0	0	0	0	1	0	0	0	16815	1290	45	2	1827	2	TTF2	1	117624455	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2367904	117624455	131626166	38	37274											
TTF2	8458	broad.mit.edu	37	chr1	117637947	117637947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatttcatctctgttggCagaattggaggcaattcaaa	12	12	9	8	0	3	2	2	0	1	2	4	3	3	3	1	3	0	3	1	3	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:117637947C>G	ENST00000369466.3	+	19	3037	c.2993C>G	c.(2992-2994)gCa>gGa	p.A998G		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	998	Helicase C-terminal.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCTCTGTTGGCAGAATTGGAG	0.393													3	58					0	0	0	0	G	117637947	C	G	117637947	3	3	210	1	0	0	0	0	1	0	0	0	16815	710	25	4	3067	4	TTF2	1	117637947	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	13492	117637947	131612674	39	37275											
GJA5	2702	broad.mit.edu	37	chr1	147230503	147230503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggccatattattgctgaaggGattgaagaattttcccccag	11	12	10	8	0	0	3	0	2	0	1	1	4	1	4	3	2	1	1	3	2	5	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:147230503G>A	ENST00000271348.2	-	2	1005	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	GJA5_ENST00000369237.1_Missense_Mutation_p.P282S|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	282					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TTGCTGAAGGGATTGAAGAAT	0.542													5	144					0	0	0	0	A	147230503	G	A	147230503	3	1	210	1	0	0	0	0	1	0	0	0	6455	1174	41	2	236	2	GJA5	1	147230503	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	29592556	147230503	102020118	40	37276											
APH1A	51107	broad.mit.edu	37	chr1	150239858	150239858	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagaagacaccactgatgaTaccgaaggagagaccagaaa	19	3	11	8	1	0	6	0	2	0	4	0	10	0	7	3	1	1	0	3	1	4	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:150239858T>A	ENST00000360244.4	-	4	871	c.379A>T	c.(379-381)Atc>Ttc	p.I127F	APH1A_ENST00000414276.2_Missense_Mutation_p.I57F|APH1A_ENST00000369109.3_Missense_Mutation_p.I127F|APH1A_ENST00000461320.1_5'UTR	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	127					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACTGATGATACCGAAGGAG	0.498													25	37					0	0	0	0	A	150239858	T	A	150239858	3	1	210	1	0	0	0	0	1	0	0	0	772	1406	49	5	445	5	APH1A	1	150239858	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	3009355	150239858	99010763	41	37277											
TCHHL1	126637	broad.mit.edu	37	chr1	152059098	152059098	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgttctgccataatcctCaggttcacccaaattctttg	10	14	6	11	0	4	1	2	0	2	1	5	1	5	1	3	1	1	2	3	1	2	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:152059098C>G	ENST00000368806.1	-	3	1124	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	354							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCATAATCCTCAGGTTCACCC	0.418													33	265					0	0	0	0	G	152059098	C	G	152059098	3	3	210	1	0	0	0	0	1	0	0	0	15795	835	29	2	1658	2	TCHHL1	1	152059098	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1819240	152059098	97191523	42	37278											
FLG	2312	broad.mit.edu	37	chr1	152278665	152278665	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagagtcttctgaatgTccctcactgtcactgtcctg	6	14	7	14	0	5	2	3	1	3	1	8	2	7	2	2	0	0	0	2	0	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:152278665T>C	ENST00000368799.1	-	3	8732	c.8697A>G	c.(8695-8697)ggA>ggG	p.G2899G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2899	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTGAATGTCCCTCACTGT	0.567									Ichthyosis				12	484					0	0	0	0	C	152278665	T	C	152278665	2	2	210	1	0	0	0	0	0	0	0	1	5967	1654	58	5		5	FLG	1	152278665	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	219567	152278665	96971956	43	37279											
FLG	2312	broad.mit.edu	37	chr1	152284282	152284282	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtgtctttctcctggacttGatcttgcctgttcatgggat	4	17	10	10	1	4	1	1	1	3	0	5	3	4	3	2	2	1	1	2	2	0	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:152284282G>C	ENST00000368799.1	-	3	3115	c.3080C>G	c.(3079-3081)tCa>tGa	p.S1027*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1027	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGGACTTGATCTTGCCTG	0.572									Ichthyosis				202	432					0	0	0	0	C	152284282	G	C	152284282	4	2	210	1	0	0	0	0	0	1	0	0	5967	1294	45	2	9109	2	FLG	1	152284282	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	5617	152284282	96966339	44	37280											
LCE4A	199834	broad.mit.edu	37	chr1	152681605	152681605	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccctcccaagtgtcctatCcccaagtatcccccaaaatg	10	8	4	19	0	0	0	0	0	0	0	4	0	4	0	8	0	0	1	8	0	6	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:152681605C>A	ENST00000368777.1	+	2	310	c.54C>A	c.(52-54)atC>atA	p.I18I	LCE4A_ENST00000335535.3_Silent_p.I18I			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	18	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			AGTGTCCTATCCCCAAGTATC	0.517													24	153					5.45024e-15	1.30019e-14	1	0	A	152681605	C	A	152681605	2	1	210	1	0	0	0	0	0	0	0	1	8727	845	30	2		2	LCE4A	1	152681605	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	397323	152681605	96569016	45	37281											
SPRR1B	6699	broad.mit.edu	37	chr1	153004978	153004978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagccctgccaccccaaaGtgcccgagccctgccagccc	7	4	9	21	1	0	1	0	1	0	0	0	2	0	1	8	0	6	0	8	0	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:153004978G>A	ENST00000307098.4	+	2	222	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	SPRR1B_ENST00000392661.3_Splice_Site	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	53	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACCCCAAAGTGCCCGAGCC	0.632													19	177					0	0	0	0	A	153004978	G	A	153004978	3	1	210	1	0	0	0	0	1	0	0	0	15186	1029	36	4	159	4	SPRR1B	1	153004978	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	323373	153004978	96245643	46	37282											
CRTC2	200186	broad.mit.edu	37	chr1	153926054	153926054	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgaaacaactgccccttctCtgcagggaaattgccccagg	10	8	9	14	1	1	0	0	0	1	0	3	2	1	1	4	2	5	1	4	2	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:153926054C>G	ENST00000368633.1	-	5	590	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	CRTC2_ENST00000476883.1_5'UTR|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	155					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCCCCTTCTCTGCAGGGAAA	0.517													4	40					0	0	0	0	G	153926054	C	G	153926054	3	3	210	1	0	0	0	0	1	0	0	0	3930	922	32	2	1658	2	CRTC2	1	153926054	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	921076	153926054	95324567	47	37283											
GBA	2629	broad.mit.edu	37	chr1	155209413	155209413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttcctcctcaccttcttCagagaagtacgatttaagta	10	13	5	13	1	3	1	2	0	1	1	5	3	5	1	4	0	1	2	4	0	4	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:155209413C>T	ENST00000428024.2	-	3	689	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	GBA_ENST00000493842.1_5'UTR|GBA_ENST00000368373.3_Missense_Mutation_p.E150K|GBA_ENST00000327247.5_Missense_Mutation_p.E150K|GBA_ENST00000536770.1_Intron|GBA_ENST00000427500.2_Intron	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	150			D -> N (in GD1; very low activity).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TCACCTTCTTCAGAGAAGTAC	0.428									Gaucher disease type I				8	44					0	0	0	0	T	155209413	C	T	155209413	3	4	210	1	0	0	0	0	1	0	0	0	6315	835	29	2	1194	2	GBA	1	155209413	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1283359	155209413	94041208	48	37284											
ARHGEF2	9181	broad.mit.edu	37	chr1	155924708	155924708	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttactcttaattcgccgcaGgtaagcctcatcctctgtct	7	14	6	14	2	4	0	1	0	3	0	6	0	5	0	3	1	2	2	3	1	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:155924708G>A	ENST00000368316.1	-	18	2154	c.1684C>T	c.(1684-1686)Ctg>Ttg	p.L562L	ARHGEF2_ENST00000361247.4_Silent_p.L590L|ARHGEF2_ENST00000313667.4_Silent_p.L589L|ARHGEF2_ENST00000368315.3_Silent_p.L591L|ARHGEF2_ENST00000313695.7_Silent_p.L562L			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	590	PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATTCGCCGCAGGTAAGCCTCA	0.453													35	80					0	0	0	0	A	155924708	G	A	155924708	2	1	210	1	0	0	0	0	0	0	0	1	905	991	35	4		4	ARHGEF2	1	155924708	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	715295	155924708	93325913	49	37285											
FCRL4	83417	broad.mit.edu	37	chr1	157545497	157545497	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaactcaccttatcctCtagaagtgtcctggaggtat	12	12	8	9	0	2	2	1	1	1	1	4	3	4	3	3	2	1	1	3	2	6	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:157545497C>A	ENST00000271532.1	-	11	1588	c.1453G>T	c.(1453-1455)Gag>Tag	p.E485*	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	485						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ACCTTATCCTCTAGAAGTGTC	0.458													37	86					7.53189e-24	1.86013e-23	1	0	A	157545497	C	A	157545497	4	1	210	1	0	0	0	0	0	1	0	0	5842	922	32	2	102	2	FCRL4	1	157545497	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1620789	157545497	91705124	50	37286											
FCRL4	83417	broad.mit.edu	37	chr1	157556230	157556230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgggtctccaggagcaccCcagacacagggatccctatg	9	6	12	14	0	1	1	0	0	1	1	3	3	2	3	4	3	1	2	4	3	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:157556230C>G	ENST00000271532.1	-	6	998	c.863G>C	c.(862-864)gGg>gCg	p.G288A	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	288	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CAGGAGCACCCCAGACACAGG	0.602													25	60					0	0	0	0	G	157556230	C	G	157556230	3	3	210	1	0	0	0	0	1	0	0	0	5842	623	22	4	712	4	FCRL4	1	157556230	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	10733	157556230	91694391	51	37287											
CD1D	912	broad.mit.edu	37	chr1	158153926	158153926	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattctctcacagttcctatCagggcgtcctgtgactcgcc	6	13	8	14	2	3	1	2	1	1	0	7	1	5	1	3	1	0	1	3	1	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:158153926C>T	ENST00000368171.3	+	7	1493	c.994C>T	c.(994-996)Cag>Tag	p.Q332*		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	332					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAGTTCCTATCAGGGCGTCCT	0.512													8	136					0	0	0	0	T	158153926	C	T	158153926	4	4	210	1	0	0	0	0	0	1	0	0	3006	827	29	2	1016	2	CD1D	1	158153926	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	597696	158153926	91096695	52	37288											
OR6N2	81442	broad.mit.edu	37	chr1	158746552	158746552	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgatttccttgttacgaaGactgtagataattggattga	13	15	9	4	1	0	4	0	2	0	2	1	6	1	5	1	1	1	2	1	1	5	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:158746552G>T	ENST00000339258.1	-	1	873	c.874C>A	c.(874-876)Ctt>Att	p.L292I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTGTTACGAAGACTGTAGATA	0.418													27	86					1.55811e-20	3.81574e-20	1	0	T	158746552	G	T	158746552	3	4	210	1	0	0	0	0	1	0	0	0	11278	942	33	2	82	2	OR6N2	1	158746552	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	592626	158746552	90504069	53	37289											
OR6N2	81442	broad.mit.edu	37	chr1	158746962	158746962	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacctcagaaatgggaCacaggaagccacaagtccaa	16	4	11	10	0	1	2	1	1	0	1	2	5	2	5	3	3	1	0	3	3	4	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:158746962C>A	ENST00000339258.1	-	1	463	c.464G>T	c.(463-465)tGt>tTt	p.C155F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AGAAATGGGACACAGGAAGCC	0.498													18	69					8.34094e-07	1.73662e-06	1	0	A	158746962	C	A	158746962	3	1	210	1	0	0	0	0	1	0	0	0	11278	478	17	4	492	4	OR6N2	1	158746962	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	410	158746962	90503659	54	37290											
MNDA	4332	broad.mit.edu	37	chr1	158812150	158812150	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaactaatagaacttgcCaaagatatgccatcacttaa	18	9	5	9	0	1	2	1	0	0	2	1	3	1	2	2	0	4	0	2	0	7	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:158812150C>A	ENST00000368141.4	+	2	468	c.207C>A	c.(205-207)gcC>gcA	p.A69A	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	69	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TAGAACTTGCCAAAGATATGC	0.358													31	74					5.60225e-13	1.30794e-12	1	0	A	158812150	C	A	158812150	2	1	210	1	0	0	0	0	0	0	0	1	9746	581	21	4		4	MNDA	1	158812150	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	65188	158812150	90438471	55	37291											
OR10J1	26476	broad.mit.edu	37	chr1	159410397	159410397	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagagaacatgaccagctGatctcggtgacctacactgt	12	8	9	12	1	1	4	0	3	1	1	2	5	1	4	3	1	3	1	3	1	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:159410397G>C	ENST00000423932.3	+	1	886	c.849G>C	c.(847-849)ctG>ctC	p.L283L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	283					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATGACCAGCTGATCTCGGTGA	0.522													22	88					0	0	0	0	C	159410397	G	C	159410397	2	2	210	1	0	0	0	0	0	0	0	1	10981	1277	45	2		2	OR10J1	1	159410397	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	598247	159410397	89840224	56	37292											
ATP1A2	477	broad.mit.edu	37	chr1	160098579	160098579	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccagaaccgcatgacCgtcgcccacatgtggttcga	9	7	9	16	4	1	2	1	1	0	1	3	3	1	2	4	1	1	2	4	1	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:160098579C>A	ENST00000361216.3	+	9	1244	c.1155C>A	c.(1153-1155)acC>acA	p.T385T	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.T385T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	385					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACCGCATGACCGTCGCCCACA	0.592													32	84					2.68265e-12	6.21339e-12	1	0	A	160098579	C	A	160098579	2	1	210	1	0	0	0	0	0	0	0	1	1133	639	23	3		3	ATP1A2	1	160098579	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	688182	160098579	89152042	57	37293											
NUF2	83540	broad.mit.edu	37	chr1	163317670	163317670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaaacttgccacagcaCaattcaaaataaataagaag	22	6	6	7	0	1	1	1	0	0	1	1	2	1	2	1	1	3	1	1	1	9	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:163317670C>A	ENST00000271452.3	+	12	1345	c.1066C>A	c.(1066-1068)Caa>Aaa	p.Q356K	NUF2_ENST00000524800.1_Missense_Mutation_p.Q309K|NUF2_ENST00000367900.3_Missense_Mutation_p.Q356K	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	356	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TGCCACAGCACAATTCAAAAT	0.323													5	19					0.000602214	0.0011626	1	0	A	163317670	C	A	163317670	3	1	210	1	0	0	0	0	1	0	0	0	10818	479	17	4	1108	4	NUF2	1	163317670	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3219091	163317670	85932951	58	37294											
DUSP27	92235	broad.mit.edu	37	chr1	167095719	167095719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccacgacatctgggtcCtgaagcagcagctggagctg	9	6	14	12	1	1	1	0	1	1	0	2	3	2	2	2	2	5	5	2	2	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:167095719C>T	ENST00000361200.2	+	6	1517	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.L451L|DUSP27_ENST00000271385.5_Silent_p.L451L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	451					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CATCTGGGTCCTGAAGCAGCA	0.697													5	8					0	0	0	0	T	167095719	C	T	167095719	2	4	210	1	0	0	0	0	0	0	0	1	4860	680	24	4		4	DUSP27	1	167095719	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3778049	167095719	82154902	59	37295											
ATP1B1	481	broad.mit.edu	37	chr1	169094256	169094256	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagcccagagggatgacAtgatttttgaagattgtggc	11	12	12	6	0	1	5	1	3	0	2	1	6	1	6	1	2	1	0	1	2	1	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:169094256A>G	ENST00000367816.1	+	4	890	c.361A>G	c.(361-363)Atg>Gtg	p.M121V	ATP1B1_ENST00000367815.3_Missense_Mutation_p.M121V|ATP1B1_ENST00000499679.3_Missense_Mutation_p.M65V|ATP1B1_ENST00000367813.3_Missense_Mutation_p.M113V|ATP1B1_ENST00000494797.1_3'UTR			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	121					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GAGGGATGACATGATTTTTGA	0.373													8	134					0	0	0	0	G	169094256	A	G	169094256	3	3	210	1	0	0	0	0	1	0	0	0	1136	217	8	5	371	5	ATP1B1	1	169094256	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	1998537	169094256	80156365	60	37296											
FMO4	2329	broad.mit.edu	37	chr1	171293343	171293343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcagtgggatgttgtcacaGagacagagggcaagcaaaat	14	7	14	6	0	2	2	2	0	0	2	2	4	2	3	0	2	1	3	0	2	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:171293343G>A	ENST00000367749.3	+	5	718	c.388G>A	c.(388-390)Gag>Aag	p.E130K	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	130					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTTGTCACAGAGACAGAGGG	0.458													33	401					0	0	0	0	A	171293343	G	A	171293343	3	1	210	1	0	0	0	0	1	0	0	0	6002	943	33	2	398	2	FMO4	1	171293343	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2199087	171293343	77957278	61	37297											
RC3H1	149041	broad.mit.edu	37	chr1	173934113	173934113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttgatacaattccatttgGcagagcaggaggttttctgc	9	14	11	7	0	1	2	0	1	1	1	2	3	2	3	1	3	3	4	1	3	2	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:173934113G>C	ENST00000367696.2	-	10	1831	c.1480C>G	c.(1480-1482)Cca>Gca	p.P494A	RC3H1_ENST00000258349.4_Missense_Mutation_p.P494A|RC3H1_ENST00000367694.2_Missense_Mutation_p.P494A			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	494					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ATTCCATTTGGCAGAGCAGGA	0.478													34	87					0	0	0	0	C	173934113	G	C	173934113	3	2	210	1	0	0	0	0	1	0	0	0	13248	1203	42	4	1965	4	RC3H1	1	173934113	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2640770	173934113	75316508	62	37298											
PAPPA2	60676	broad.mit.edu	37	chr1	176640191	176640191	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctactttgccagctcagtgCgggaagaccttgcaggtgct	7	11	12	11	1	2	1	1	0	1	1	2	2	2	2	2	2	6	3	2	2	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:176640191C>G	ENST00000367662.3	+	4	3241	c.2077C>G	c.(2077-2079)Cgg>Ggg	p.R693G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R693G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	693	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGCTCAGTGCGGGAAGACCT	0.507													63	148					0	0	0	0	G	176640191	C	G	176640191	3	3	210	1	0	0	0	0	1	0	0	0	11504	759	27	3	2087	3	PAPPA2	1	176640191	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2706078	176640191	72610430	63	37299											
ABL2	27	broad.mit.edu	37	chr1	179084079	179084079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccattcgatatcctttttCtagtaggtcatagacctgag	9	16	7	9	1	2	2	1	1	1	1	5	3	4	2	3	1	0	1	3	1	4	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:179084079C>T	ENST00000502732.1	-	9	1698	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	ABL2_ENST00000367623.4_Missense_Mutation_p.E478K|ABL2_ENST00000392043.3_Missense_Mutation_p.E478K|ABL2_ENST00000511413.1_Missense_Mutation_p.E499K|ABL2_ENST00000512653.1_Missense_Mutation_p.E484K|ABL2_ENST00000408940.3_Missense_Mutation_p.E463K|ABL2_ENST00000507173.1_Missense_Mutation_p.E478K|ABL2_ENST00000504405.1_Missense_Mutation_p.E463K|ABL2_ENST00000344730.3_Missense_Mutation_p.E484K	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	499	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TATCCTTTTTCTAGTAGGTCA	0.408			T	ETV6	AML								7	77					0	0	0	0	T	179084079	C	T	179084079	3	4	210	1	0	0	0	0	1	0	0	0	93	922	32	2	2114	2	ABL2	1	179084079	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2443888	179084079	70166542	64	37300											
NMNAT2	23057	broad.mit.edu	37	chr1	183230439	183230439	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaccaacaatcacctccatCtaaagaaacagagagagggc	17	5	7	12	0	3	3	2	0	1	3	4	4	4	3	3	1	2	0	3	1	5	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:183230439C>G	ENST00000287713.6	-	9	986		c.e9-1		NMNAT2_ENST00000294868.4_Splice_Site	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2						water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TCACCTCCATCTAAAGAAACA	0.498													20	35					0	0	0	0	G	183230439	C	G	183230439	5	3	210	1	0	0	0	0	0	0	1	0	10569	927	32	2	284	2	NMNAT2	1	183230439	Splice_Site	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4146360	183230439	66020182	65	37301											
HMCN1	83872	broad.mit.edu	37	chr1	185833652	185833652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctataaaaattgccttGgaaatttctcttcctggttc	10	15	8	8	0	1	0	0	0	1	0	4	2	2	2	2	3	2	2	2	3	5	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:185833652G>A	ENST00000271588.4	+	3	619	c.390G>A	c.(388-390)ttG>ttA	p.L130L	HMCN1_ENST00000367492.2_Silent_p.L130L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	130	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATTGCCTTGGAAATTTCTC	0.408													6	43					0	0	0	0	A	185833652	G	A	185833652	2	1	210	1	0	0	0	0	0	0	0	1	7270	1339	47	4		4	HMCN1	1	185833652	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2603213	185833652	63416969	66	37302											
HMCN1	83872	broad.mit.edu	37	chr1	185972962	185972962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctttcctgatattcattgGttcaaagatggcaagtgagt	10	14	9	8	0	2	3	2	2	0	1	3	3	3	3	2	2	0	2	2	2	3	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:185972962G>T	ENST00000271588.4	+	29	4690	c.4461G>T	c.(4459-4461)tgG>tgT	p.W1487C	HMCN1_ENST00000367492.2_Missense_Mutation_p.W1487C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1487	Ig-like C2-type 12.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATATTCATTGGTTCAAAGATG	0.403													6	56					0.00307968	0.00578596	1	0	T	185972962	G	T	185972962	3	4	210	1	0	0	0	0	1	0	0	0	7270	1270	44	4	4575	4	HMCN1	1	185972962	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	139310	185972962	63277659	67	37303											
HMCN1	83872	broad.mit.edu	37	chr1	186064470	186064470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattactgatggaaccccaGctcccagtatggcctggctt	8	10	10	13	0	0	1	0	1	0	0	1	2	1	2	4	3	3	4	4	3	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:186064470G>T	ENST00000271588.4	+	68	10619	c.10390G>T	c.(10390-10392)Gct>Tct	p.A3464S	HMCN1_ENST00000367492.2_Missense_Mutation_p.A3464S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3464	Ig-like C2-type 33.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGAACCCCAGCTCCCAGTAT	0.517													8	39					0.000157383	0.000307222	1	0	T	186064470	G	T	186064470	3	4	210	1	0	0	0	0	1	0	0	0	7270	971	34	4	10660	4	HMCN1	1	186064470	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	91508	186064470	63186151	68	37304											
RGS1	5996	broad.mit.edu	37	chr1	192548282	192548282	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagatcaatattgacttcCgcactcgagaatctacagcc	12	12	6	11	2	2	3	1	1	1	2	4	4	3	3	2	0	2	1	2	0	5	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:192548282C>G	ENST00000367459.3	+	5	526	c.460C>G	c.(460-462)Cgc>Ggc	p.R154G		NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	154	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TATTGACTTCCGCACTCGAGA	0.333													13	71					0	0	0	0	G	192548282	C	G	192548282	3	3	210	1	0	0	0	0	1	0	0	0	13375	652	23	3	478	3	RGS1	1	192548282	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	6483812	192548282	56702339	69	37305											
ZBTB41	360023	broad.mit.edu	37	chr1	197128811	197128811	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggaacacatacttcagcaGatacattctgtaacatcgtc	13	11	6	11	1	2	1	1	0	1	1	4	2	2	2	0	1	5	2	0	1	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:197128811G>C	ENST00000367405.4	-	10	2476	c.2408C>G	c.(2407-2409)tCt>tGt	p.S803C	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	803					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TACTTCAGCAGATACATTCTG	0.428													12	104					0	0	0	0	C	197128811	G	C	197128811	3	2	210	1	0	0	0	0	1	0	0	0	17638	942	33	2	325	2	ZBTB41	1	197128811	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	4580529	197128811	52121810	70	37306											
PTPRC	5788	broad.mit.edu	37	chr1	198682089	198682089	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttttaacaggtccaggAgagcctcagattattttttg	10	16	8	7	0	2	2	1	0	1	2	3	3	3	2	2	2	2	0	2	2	2	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:198682089A>G	ENST00000367376.2	+	12	1344	c.1173A>G	c.(1171-1173)ggA>ggG	p.G391G	PTPRC_ENST00000352140.3_Silent_p.G343G|PTPRC_ENST00000348564.6_Silent_p.G232G|PTPRC_ENST00000442510.2_Silent_p.G393G|PTPRC_ENST00000594404.1_Silent_p.G230G	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	391	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAGGTCCAGGAGAGCCTCAGA	0.318													26	59					0	0	0	0	G	198682089	A	G	198682089	2	3	210	1	0	0	0	0	0	0	0	1	12879	291	11	5		5	PTPRC	1	198682089	Silent	SNP	A	TCGA-CR-7388-01A-11D-2012-08	1553278	198682089	50568532	71	37307											
C4BPB	725	broad.mit.edu	37	chr1	207265029	207265029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctggtgaatggagagttCagttcttcagggcctgtgaa	8	12	15	6	0	3	3	2	2	1	1	3	4	3	3	1	3	1	3	1	3	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:207265029C>G	ENST00000243611.5	+	3	567	c.273C>G	c.(271-273)ttC>ttG	p.F91L	C4BPB_ENST00000367078.3_Missense_Mutation_p.F91L|C4BPB_ENST00000367076.3_Missense_Mutation_p.F90L|C4BPB_ENST00000451804.2_Missense_Mutation_p.F81L|C4BPB_ENST00000391923.1_Missense_Mutation_p.F91L	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	91	Sushi 2.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						ATGGAGAGTTCAGTTCTTCAG	0.483													7	123					0	0	0	0	G	207265029	C	G	207265029	3	3	210	1	0	0	0	0	1	0	0	0	2271	825	29	2	283	2	C4BPB	1	207265029	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	8582940	207265029	41985592	72	37308											
C4BPB	725	broad.mit.edu	37	chr1	207265065	207265065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaatgtaagtgacaaaatCacgtttatgtgcaatgacca	15	11	9	6	1	1	3	1	3	0	0	1	3	1	3	1	0	1	3	1	0	6	3	rs139041322		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:207265065C>G	ENST00000243611.5	+	3	603	c.309C>G	c.(307-309)atC>atG	p.I103M	C4BPB_ENST00000367078.3_Missense_Mutation_p.I103M|C4BPB_ENST00000367076.3_Missense_Mutation_p.I102M|C4BPB_ENST00000451804.2_Missense_Mutation_p.I93M|C4BPB_ENST00000391923.1_Missense_Mutation_p.I103M	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	103	Sushi 2.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						GTGACAAAATCACGTTTATGT	0.483													6	101					0	0	0	0	G	207265065	C	G	207265065	3	3	210	1	0	0	0	0	1	0	0	0	2271	816	29	2	319	2	C4BPB	1	207265065	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	36	207265065	41985556	73	37309											
CR1	1378	broad.mit.edu	37	chr1	207753627	207753627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatggtgagcatacccCaagccatcaggacaactttt	11	9	8	13	0	1	1	1	1	0	0	1	2	1	2	4	2	5	2	4	2	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:207753627C>T	ENST00000367049.4	+	30	4979	c.4979C>T	c.(4978-4980)cCa>cTa	p.P1660L	CR1_ENST00000367051.1_Missense_Mutation_p.P1210L|CR1_ENST00000367053.1_Missense_Mutation_p.P1210L|CR1_ENST00000400960.2_Missense_Mutation_p.P1210L|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.P1210L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1210	Sushi 26.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGCATACCCCAAGCCATCAG	0.537													10	177					0	0	0	0	T	207753627	C	T	207753627	3	4	210	1	0	0	0	0	1	0	0	0	3870	594	21	4	5097	4	CR1	1	207753627	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	488562	207753627	41496994	74	37310											
INTS7	25896	broad.mit.edu	37	chr1	212151750	212151750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatggcacatcaaaatccggGcagcgtcttgagcactgtgc	11	8	11	11	2	2	1	1	1	1	0	3	1	3	1	1	2	3	3	1	2	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:212151750G>A	ENST00000366994.3	-	11	1438	c.1334C>T	c.(1333-1335)gCc>gTc	p.A445V	INTS7_ENST00000366993.3_Missense_Mutation_p.A445V|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.A445V|INTS7_ENST00000440600.2_Missense_Mutation_p.A396V	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	445					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CAAAATCCGGGCAGCGTCTTG	0.532													12	77					0	0	0	0	A	212151750	G	A	212151750	3	1	210	1	0	0	0	0	1	0	0	0	7836	1203	42	4	1594	4	INTS7	1	212151750	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	4398123	212151750	37098871	75	37311											
VASH2	79805	broad.mit.edu	37	chr1	213146178	213146178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaagattgggctgtacGtcccccatgagcctcatagc	9	9	11	12	1	2	2	2	1	0	1	3	2	3	2	3	2	3	2	3	2	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:213146178G>T	ENST00000366968.4	+	7	909	c.559G>T	c.(559-561)Gtc>Ttc	p.V187F	VASH2_ENST00000366967.2_Missense_Mutation_p.V148F|VASH2_ENST00000517399.1_Missense_Mutation_p.V252F|VASH2_ENST00000366965.2_Missense_Mutation_p.V208F|VASH2_ENST00000366966.2_Missense_Mutation_p.V187F|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366964.3_Missense_Mutation_p.V110F	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	252					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGGGCTGTACGTCCCCCATGA	0.498													32	60					1.36161e-19	3.32059e-19	1	0	T	213146178	G	T	213146178	3	4	210	1	0	0	0	0	1	0	0	0	17222	1145	40	3	772	3	VASH2	1	213146178	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	994428	213146178	36104443	76	37312											
PROX1	5629	broad.mit.edu	37	chr1	214171246	214171246	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgcctccggccctgcCgctggcggccaccaccagcc	4	5	11	21	3	1	0	0	0	1	0	2	0	2	0	8	3	3	1	8	3	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:214171246C>A	ENST00000366958.4	+	2	1976	c.1368C>A	c.(1366-1368)gcC>gcA	p.A456A	PROX1_ENST00000435016.1_Silent_p.A456A|PROX1_ENST00000261454.4_Silent_p.A456A|PROX1_ENST00000498508.2_Silent_p.A456A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	456				PAA -> LV (in Ref. 1; AAC50656).	aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCGGCCCTGCCGCTGGCGGCC	0.642													33	102					4.4194e-11	1.00368e-10	1	0	A	214171246	C	A	214171246	2	1	210	1	0	0	0	0	0	0	0	1	12640	639	23	3		3	PROX1	1	214171246	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1025068	214171246	35079375	77	37313											
ESRRG	2104	broad.mit.edu	37	chr1	216850521	216850521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaaacacagtctcttgggCatcgagttgagcatgtattc	11	12	9	9	1	1	1	0	1	1	0	4	2	1	1	0	1	2	4	0	1	3	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:216850521C>T	ENST00000391890.3	-	4	817	c.300G>A	c.(298-300)atG>atA	p.M100I	ESRRG_ENST00000366937.1_Missense_Mutation_p.M128I|ESRRG_ENST00000360012.3_Missense_Mutation_p.M100I|ESRRG_ENST00000359162.2_Missense_Mutation_p.M100I|ESRRG_ENST00000487276.1_Missense_Mutation_p.M100I|ESRRG_ENST00000361525.3_Missense_Mutation_p.M100I|ESRRG_ENST00000366938.2_Missense_Mutation_p.M100I|ESRRG_ENST00000366940.2_Missense_Mutation_p.M100I|ESRRG_ENST00000463665.1_Missense_Mutation_p.M100I|ESRRG_ENST00000361395.2_Missense_Mutation_p.M100I|ESRRG_ENST00000408911.3_Missense_Mutation_p.M123I|ESRRG_ENST00000493748.1_Missense_Mutation_p.M100I|ESRRG_ENST00000493603.1_Missense_Mutation_p.M100I	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	123					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GTCTCTTGGGCATCGAGTTGA	0.498													20	79					0	0	0	0	T	216850521	C	T	216850521	3	4	210	1	0	0	0	0	1	0	0	0	5300	710	25	4	1031	4	ESRRG	1	216850521	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2679275	216850521	32400100	78	37314											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220355610	220355610	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaccttaccaacaacagctGagggctaagaccagccgact	15	5	8	13	1	0	2	0	1	0	1	0	3	0	2	4	1	6	2	4	1	5	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:220355610G>C	ENST00000358951.2	-	21	2415	c.2299C>G	c.(2299-2301)Cag>Gag	p.Q767E		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	767					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AACAACAGCTGAGGGCTAAGA	0.408													14	93					0	0	0	0	C	220355610	G	C	220355610	3	2	210	1	0	0	0	0	1	0	0	0	13018	1299	45	2	1942	2	RAB3GAP2	1	220355610	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3505089	220355610	28895011	79	37315											
DISP1	84976	broad.mit.edu	37	chr1	223176180	223176180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaactcttctgacggcGtgactaccatcaccgggatt	9	10	10	12	3	3	2	1	2	2	0	3	4	3	4	2	3	2	0	2	3	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:223176180G>T	ENST00000284476.6	+	8	1605	c.1441G>T	c.(1441-1443)Gtg>Ttg	p.V481L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	481					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTCTGACGGCGTGACTACCAT	0.418													24	74					4.26978e-12	9.81152e-12	1	0	T	223176180	G	T	223176180	3	4	210	1	0	0	0	0	1	0	0	0	4576	1145	40	3	1467	3	DISP1	1	223176180	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2820570	223176180	26074441	80	37316											
CAPN2	824	broad.mit.edu	37	chr1	223933090	223933090	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagctgctctttgtgcattCagccgaagggagcgagttct	7	11	14	9	2	3	0	1	0	2	0	3	4	3	2	1	2	5	4	1	2	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:223933090C>G	ENST00000295006.5	+	4	818	c.509C>G	c.(508-510)tCa>tGa	p.S170*	CAPN2_ENST00000433674.2_Nonsense_Mutation_p.S92*	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	170	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTTGTGCATTCAGCCGAAGGG	0.612													3	79					0	0	0	0	G	223933090	C	G	223933090	4	3	210	1	0	0	0	0	0	1	0	0	2652	838	29	2	530	2	CAPN2	1	223933090	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	756910	223933090	25317531	81	37317											
LEFTY1	10637	broad.mit.edu	37	chr1	226076549	226076549	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggctgaacctctttccgcggGagcggtccccgtggctgcgc	3	8	15	15	5	1	1	0	1	1	0	3	2	3	2	4	4	3	2	4	4	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:226076549G>C	ENST00000272134.5	-	1	297	c.218C>G	c.(217-219)tCc>tGc	p.S73C	RP4-559A3.7_ENST00000432920.2_Intron|LEFTY1_ENST00000492457.1_Intron	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	73					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CTTTCCGCGGGAGCGGTCCCC	0.692													12	31					0	0	0	0	C	226076549	G	C	226076549	3	2	210	1	0	0	0	0	1	0	0	0	8768	1174	41	2	898	2	LEFTY1	1	226076549	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2143459	226076549	23174072	82	37318											
GJC2	57165	broad.mit.edu	37	chr1	228346341	228346341	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctgggcttgggcagcgcGcaggacgcggtgcgcggccg	4	4	19	14	7	0	0	0	0	0	0	0	1	0	1	2	5	2	3	2	5	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:228346341G>C	ENST00000366714.2	+	2	1057	c.882G>C	c.(880-882)gcG>gcC	p.A294A		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	294					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TGGGCAGCGCGCAGGACGCGG	0.741													14	37					0	0	0	0	C	228346341	G	C	228346341	2	2	210	1	0	0	0	0	0	0	0	1	6466	1074	38	3		3	GJC2	1	228346341	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2269792	228346341	20904280	83	37319											
RYR2	6262	broad.mit.edu	37	chr1	237777906	237777906	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctcatcaagcttttctaTaccctgctgatcatgggcat	8	14	6	13	0	4	1	3	1	2	0	5	1	4	1	2	1	3	3	2	1	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:237777906T>C	ENST00000366574.2	+	37	5795	c.5478T>C	c.(5476-5478)taT>taC	p.Y1826Y	RYR2_ENST00000360064.6_Silent_p.Y1824Y|RYR2_ENST00000542537.1_Silent_p.Y1810Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1826	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCTTTTCTATACCCTGCTGA	0.493													47	181					0	0	0	0	C	237777906	T	C	237777906	2	2	210	1	0	0	0	0	0	0	0	1	13854	1413	49	5		5	RYR2	1	237777906	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	9431565	237777906	11472715	84	37320											
FMN2	56776	broad.mit.edu	37	chr1	240255773	240255773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaagactccagacctcAgcctctcggcggacgaggcc	9	5	10	17	3	3	2	2	0	1	2	5	4	4	3	5	3	1	0	5	3	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:240255773A>G	ENST00000319653.9	+	1	594	c.364A>G	c.(364-366)Agc>Ggc	p.S122G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	122					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCAGACCTCAGCCTCTCGGC	0.687													4	11					0	0	0	0	G	240255773	A	G	240255773	3	3	210	1	0	0	0	0	1	0	0	0	5995	188	7	5	366	5	FMN2	1	240255773	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	2477867	240255773	8994848	85	37321											
FMN2	56776	broad.mit.edu	37	chr1	240492684	240492684	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaacttttcagagcgagtCttttgcatcctgttccagtc	7	14	7	13	1	2	1	1	0	1	1	5	2	4	1	3	0	3	2	3	0	1	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:240492684C>G	ENST00000319653.9	+	10	4583	c.4353C>G	c.(4351-4353)gtC>gtG	p.V1451V	FMN2_ENST00000545751.1_Silent_p.V47V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1451	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAGCGAGTCTTTTGCATCC	0.373													9	118					0	0	0	0	G	240492684	C	G	240492684	2	3	210	1	0	0	0	0	0	0	0	1	5995	900	32	2		2	FMN2	1	240492684	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	236911	240492684	8757937	86	37322											
CHML	1122	broad.mit.edu	37	chr1	241798317	241798317	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacataacgactaacatctGatttgattaaaagatcaatt	17	13	4	7	1	2	3	1	2	1	1	2	4	2	3	0	0	3	0	0	0	6	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:241798317G>C	ENST00000366553.1	-	1	915	c.752C>G	c.(751-753)tCa>tGa	p.S251*	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	251					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ACTAACATCTGATTTGATTAA	0.343													7	63					0	0	0	0	C	241798317	G	C	241798317	4	2	210	1	0	0	0	0	0	1	0	0	3380	1294	45	2	1222	2	CHML	1	241798317	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1305633	241798317	7452304	87	37323											
NLRP3	114548	broad.mit.edu	37	chr1	247588696	247588696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagggccatggactatttcCccaagattgagatcaatctc	13	10	8	10	0	2	2	1	1	1	2	4	4	3	3	3	2	0	0	3	2	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:247588696C>A	ENST00000366497.2	+	4	2731	c.1951C>A	c.(1951-1953)Ccc>Acc	p.P651T	NLRP3_ENST00000391828.3_Missense_Mutation_p.P651T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.P651T|NLRP3_ENST00000391827.2_Missense_Mutation_p.P651T|NLRP3_ENST00000348069.2_Missense_Mutation_p.P651T|NLRP3_ENST00000366496.2_Missense_Mutation_p.P651T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	651					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGACTATTTCCCCAAGATTGA	0.493													9	47					3.07112e-06	6.30425e-06	1	0	A	247588696	C	A	247588696	3	1	210	1	0	0	0	0	1	0	0	0	10548	623	22	4	1961	4	NLRP3	1	247588696	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	5790379	247588696	1661925	88	37324											
OR2T33	391195	broad.mit.edu	37	chr1	248437009	248437009	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgagggaattgccaaacagGgaggtcaaaacgatactcag	16	6	12	7	1	2	1	2	1	0	0	2	4	2	3	1	3	4	0	1	3	5	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:248437009G>T	ENST00000318021.2	-	1	129	c.108C>A	c.(106-108)tcC>tcA	p.S36S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGCCAAACAGGGAGGTCAAAA	0.488													21	83					3.1745e-13	7.43121e-13	1	0	T	248437009	G	T	248437009	2	4	210	1	0	0	0	0	0	0	0	1	11095	1219	43	4		4	OR2T33	1	248437009	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	848313	248437009	813612	89	37325											
OR2T3	343173	broad.mit.edu	37	chr1	248637210	248637210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgagttttttctgtgagactCctgccctgctgaagctctcc	5	15	9	12	0	2	3	0	3	2	1	4	4	3	3	3	0	3	3	3	0	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:248637210C>T	ENST00000359594.2	+	1	584	c.559C>T	c.(559-561)Cct>Tct	p.P187S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTGAGACTCCTGCCCTGCT	0.512													91	205					0	0	0	0	T	248637210	C	T	248637210	3	4	210	1	0	0	0	0	1	0	0	0	11094	855	30	2	561	2	OR2T3	1	248637210	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	200201	248637210	613411	90	37326											
OR2G6	391211	broad.mit.edu	37	chr1	248685139	248685139	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgtacttcttcctcagCaacctctcgtgtgtggacat	8	13	7	13	1	3	0	1	0	2	0	5	1	4	1	3	1	3	2	3	1	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:248685139C>A	ENST00000343414.4	+	1	224	c.192C>A	c.(190-192)agC>agA	p.S64R		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCCTCAGCAACCTCTCGT	0.483													33	63					6.50621e-10	1.44757e-09	1	0	A	248685139	C	A	248685139	3	1	210	1	0	0	0	0	1	0	0	0	11071	709	25	4	194	4	OR2G6	1	248685139	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	47929	248685139	565482	91	37327											
ACP1	52	broad.mit.edu	37	chr2	271881	271881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaggtaacatttgtcgatCacccattgcagaagcagttt	13	12	8	8	1	1	1	1	0	0	1	2	2	1	1	1	1	3	4	1	1	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:271881C>T	ENST00000272067.6	+	2	155	c.59C>T	c.(58-60)tCa>tTa	p.S20L	ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000405233.1_Missense_Mutation_p.S20L|ACP1_ENST00000439645.2_Missense_Mutation_p.S20L|ACP1_ENST00000272065.5_Missense_Mutation_p.S20L|ACP1_ENST00000407983.3_Missense_Mutation_p.S20L	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	20				CLGNICRS -> PARREAAR (in Ref. 5; AAB27085).		cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		ATTTGTCGATCACCCATTGCA	0.448													7	80					0	0	0	0	T	271881	C	T	271881	3	4	210	1	0	0	0	0	1	0	0	0	162	838	29	2	65	2	ACP1	2	271881	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08		271881	242927492	92	37328											
KIDINS220	57498	broad.mit.edu	37	chr2	8871289	8871289	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctatgtgggattcccCgctttccgctgtgactgtca	5	13	11	12	2	2	1	2	1	0	0	4	2	4	2	3	2	0	3	3	2	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:8871289C>G	ENST00000256707.3	-	30	5058	c.4877G>C	c.(4876-4878)cGg>cCg	p.R1626P	KIDINS220_ENST00000473731.1_Missense_Mutation_p.R1607P|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R1527P|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R1607P	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1626					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGGGATTCCCCGCTTTCCGCT	0.483													8	45					0	0	0	0	G	8871289	C	G	8871289	3	3	210	1	0	0	0	0	1	0	0	0	8322	652	23	3	442	3	KIDINS220	2	8871289	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	8599408	8871289	234328084	93	37329											
GEN1	348654	broad.mit.edu	37	chr2	17954379	17954379	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggaaagcttgctgttgtGagggattcccattccatgag	9	12	12	8	0	1	2	1	2	0	0	3	4	3	4	2	2	2	3	2	2	1	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:17954379G>C	ENST00000381254.2	+	9	1184	c.970G>C	c.(970-972)Gag>Cag	p.E324Q	GEN1_ENST00000317402.7_Missense_Mutation_p.E324Q|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	324					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTGCTGTTGTGAGGGATTCCC	0.294								Homologous recombination					4	34					0	0	0	0	C	17954379	G	C	17954379	3	2	210	1	0	0	0	0	1	0	0	0	6386	1291	45	2	1000	2	GEN1	2	17954379	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	9083090	17954379	225244994	94	37330											
APOB	338	broad.mit.edu	37	chr2	21231102	21231102	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgctatccagggtaagctGattgtttatcttgacaatca	10	15	9	7	0	2	2	1	2	1	0	3	2	3	2	1	1	2	5	1	1	4	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:21231102G>A	ENST00000233242.1	-	26	8765	c.8638C>T	c.(8638-8640)Cag>Tag	p.Q2880*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2880					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGGGTAAGCTGATTGTTTATC	0.408													17	165					0	0	0	0	A	21231102	G	A	21231102	4	1	210	1	0	0	0	0	0	1	0	0	787	1299	45	2	5069	2	APOB	2	21231102	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3276723	21231102	221968271	95	37331											
DNMT3A	1788	broad.mit.edu	37	chr2	25467409	25467409	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccacaacagcctcacCtgcagcagttgttgtttccg	8	9	11	13	1	1	0	1	0	0	0	2	1	2	1	4	2	4	5	4	2	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:25467409C>A	ENST00000264709.3	-	14	2004	c.1667_splice	c.e14+1	p.R556_splice	DNMT3A_ENST00000402667.1_Splice_Site_p.R333_splice|DNMT3A_ENST00000380746.4_Splice_Site_p.R367_splice|DNMT3A_ENST00000321117.5_Splice_Site_p.R556_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	556	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGCCTCACCTGCAGCAGTT	0.652			"Mis, F, N, S"		AML								8	41					1.12685e-05	2.26795e-05	1	0	A	25467409	C	A	25467409	5	1	210	1	0	0	0	0	0	0	1	0	4712	695	24	4	1111	4	DNMT3A	2	25467409	Splice_Site	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4236307	25467409	217731964	96	37332											
HADHB	3032	broad.mit.edu	37	chr2	26502173	26502173	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttctgatgtggtacccttCaaagtaccaggtgaaatgaa	12	12	9	8	0	2	3	1	3	1	0	2	3	2	3	2	2	2	2	2	2	5	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:26502173C>T	ENST00000317799.5	+	9	905	c.801C>T	c.(799-801)ttC>ttT	p.F267F	HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Silent_p.F245F|HADHB_ENST00000537713.1_Silent_p.F252F|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	267			Missing (in TFP deficiency).		fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTACCCTTCAAAGTACCAG	0.433													6	71					0	0	0	0	T	26502173	C	T	26502173	2	4	210	1	0	0	0	0	0	0	0	1	6994	825	29	2		2	HADHB	2	26502173	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1034764	26502173	216697200	97	37333											
IFT172	26160	broad.mit.edu	37	chr2	27670397	27670397	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaccagctgtttgacactCtgggctgcagagcgcgtggc	6	9	13	13	2	2	2	1	1	1	1	2	2	2	2	1	2	3	4	1	2	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:27670397C>G	ENST00000260570.3	-	42	4747	c.4644G>C	c.(4642-4644)caG>caC	p.Q1548H		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1548					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTTTGACACTCTGGGCTGCAG	0.498													19	190					0	0	0	0	G	27670397	C	G	27670397	3	3	210	1	0	0	0	0	1	0	0	0	7610	912	32	2	633	2	IFT172	2	27670397	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1168224	27670397	215528976	98	37334											
C2orf71	388939	broad.mit.edu	37	chr2	29296154	29296154	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctctctagctgcctcAgagccctcaggaggcgttca	7	8	11	15	1	4	1	3	0	1	1	5	2	4	2	3	3	3	3	3	3	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:29296154A>G	ENST00000331664.5	-	1	973	c.974T>C	c.(973-975)cTg>cCg	p.L325P		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	325					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TAGCTGCCTCAGAGCCCTCAG	0.577													20	89					0	0	0	0	G	29296154	A	G	29296154	3	3	210	1	0	0	0	0	1	0	0	0	2211	188	7	5	2900	5	C2orf71	2	29296154	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	1625757	29296154	213903219	99	37335											
BIRC6	57448	broad.mit.edu	37	chr2	32735635	32735635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagactaaatggactctCttctgactctacgatagata	13	12	8	8	1	3	3	0	1	3	2	4	6	3	5	0	2	1	0	0	2	6	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:32735635C>A	ENST00000421745.2	+	53	10414	c.10280C>A	c.(10279-10281)tCt>tAt	p.S3427Y		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3427					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATGGACTCTCTTCTGACTCT	0.343													13	152					8.60227e-14	2.03548e-13	1	0	A	32735635	C	A	32735635	3	1	210	1	0	0	0	0	1	0	0	0	1443	913	32	2	10490	2	BIRC6	2	32735635	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3439481	32735635	210463738	100	37336											
BIRC6	57448	broad.mit.edu	37	chr2	32773002	32773002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactggctttggaacaggctCtacagcttctgggtgggatg	7	11	15	8	0	2	0	0	0	2	0	2	3	2	2	0	5	3	3	0	5	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:32773002C>T	ENST00000421745.2	+	64	13030	c.12896C>T	c.(12895-12897)tCt>tTt	p.S4299F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4299					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGAACAGGCTCTACAGCTTCT	0.428													8	31					0	0	0	0	T	32773002	C	T	32773002	3	4	210	1	0	0	0	0	1	0	0	0	1443	913	32	2	13150	2	BIRC6	2	32773002	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	37367	32773002	210426371	101	37337											
LTBP1	4052	broad.mit.edu	37	chr2	33482491	33482491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctgttgctaaaagtactCatcctccacctctcccagcc	10	10	4	17	0	2	0	1	0	1	0	5	0	4	0	6	0	4	3	6	0	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:33482491C>T	ENST00000404816.2	+	12	2661	c.2308C>T	c.(2308-2310)Cat>Tat	p.H770Y	LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000418533.2_Missense_Mutation_p.H444Y|LTBP1_ENST00000407925.1_Missense_Mutation_p.H444Y|LTBP1_ENST00000354476.3_Missense_Mutation_p.H770Y|LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000390003.4_Missense_Mutation_p.H444Y			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	770					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAAAAGTACTCATCCTCCACC	0.547													11	43					0	0	0	0	T	33482491	C	T	33482491	3	4	210	1	0	0	0	0	1	0	0	0	9137	826	29	2	2409	2	LTBP1	2	33482491	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	709489	33482491	209716882	102	37338											
RASGRP3	25780	broad.mit.edu	37	chr2	33752432	33752432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactagtctccctgcagaatGcctctcaccacttagaaccc	11	9	5	16	0	2	2	1	0	2	2	4	2	2	2	4	0	4	1	4	0	5	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:33752432G>A	ENST00000403687.3	+	10	1776	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	RASGRP3_ENST00000402538.3_Missense_Mutation_p.A346T|RASGRP3_ENST00000407811.1_Missense_Mutation_p.A346T	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	346	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CCTGCAGAATGCCTCTCACCA	0.468													9	29					0	0	0	0	A	33752432	G	A	33752432	3	1	210	1	0	0	0	0	1	0	0	0	13158	1319	46	4	1066	4	RASGRP3	2	33752432	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	269941	33752432	209446941	103	37339											
LRPPRC	10128	broad.mit.edu	37	chr2	44209515	44209515	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagaaaaagtggactcctCttgaatatctttttctttgg	12	15	8	6	0	3	3	0	1	3	2	4	4	4	4	1	2	0	0	1	2	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:44209515C>G	ENST00000260665.7	-	2	265	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	LRPPRC_ENST00000409946.1_Missense_Mutation_p.E70Q|LRPPRC_ENST00000409659.1_Missense_Mutation_p.E70Q	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	70					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTGGACTCCTCTTGAATATCT	0.383													3	67					0	0	0	0	G	44209515	C	G	44209515	3	3	210	1	0	0	0	0	1	0	0	0	9029	922	32	2	4124	2	LRPPRC	2	44209515	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	10457083	44209515	198989858	104	37340											
PSME4	23198	broad.mit.edu	37	chr2	54148034	54148034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaaaatgcttgccttgatagGaaagtattcagaaggaggct	14	10	12	5	0	1	2	1	1	0	1	1	5	1	4	1	3	2	3	1	3	6	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:54148034G>C	ENST00000404125.1	-	18	2309	c.2254C>G	c.(2254-2256)Cct>Gct	p.P752A	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	752					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCCTTGATAGGAAAGTATTCA	0.363													7	66					0	0	0	0	C	54148034	G	C	54148034	3	2	210	1	0	0	0	0	1	0	0	0	12788	1174	41	2	3393	2	PSME4	2	54148034	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	9938519	54148034	189051339	105	37341											
PLEK	5341	broad.mit.edu	37	chr2	68609701	68609701	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgtccatgaaagacacTgaaaaaggaataaaagaact	20	9	7	5	0	0	4	0	2	0	2	1	5	1	5	1	1	1	0	1	1	8	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:68609701T>A	ENST00000234313.7	+	4	587	c.408T>A	c.(406-408)acT>acA	p.T136T		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	136	DEP.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TGAAAGACACTGAAAAAGGAA	0.378													28	70					0	0	0	0	A	68609701	T	A	68609701	2	1	210	1	0	0	0	0	0	0	0	1	12125	1567	55	5		5	PLEK	2	68609701	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	14461667	68609701	174589672	106	37342											
ALMS1	7840	broad.mit.edu	37	chr2	73718601	73718601	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggacattccaatccagAggggaccccagtatttgcag	12	7	11	11	1	0	1	0	0	0	1	2	4	2	3	4	3	1	2	4	3	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:73718601A>G	ENST00000264448.6	+	10	9623	c.9512A>G	c.(9511-9513)gAg>gGg	p.E3171G	ALMS1_ENST00000409009.1_Missense_Mutation_p.E3129G	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3171					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCCAATCCAGAGGGGACCCCA	0.413													3	57					0	0	0	0	G	73718601	A	G	73718601	3	3	210	1	0	0	0	0	1	0	0	0	535	304	11	5	9550	5	ALMS1	2	73718601	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	5108900	73718601	169480772	107	37343											
ALMS1	7840	broad.mit.edu	37	chr2	73799886	73799886	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaactgtccttggtggacCgacttgatcgtttggctaaa	10	12	11	8	2	0	2	0	1	0	1	2	4	1	3	2	3	1	2	2	3	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:73799886C>G	ENST00000264448.6	+	16	10990	c.10879C>G	c.(10879-10881)Cga>Gga	p.R3627G	ALMS1_ENST00000409009.1_Missense_Mutation_p.R3585G	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3627					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTTGGTGGACCGACTTGATCG	0.468													16	58					0	0	0	0	G	73799886	C	G	73799886	3	3	210	1	0	0	0	0	1	0	0	0	535	644	23	3	10941	3	ALMS1	2	73799886	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	81285	73799886	169399487	108	37344											
LRRTM4	80059	broad.mit.edu	37	chr2	77746095	77746095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgatggatattaatgatatCcacgcattgacagtttcctg	11	14	9	7	1	0	3	0	3	0	0	2	4	2	4	2	1	0	2	2	1	3	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:77746095C>A	ENST00000409088.3	-	3	1314	c.900G>T	c.(898-900)tgG>tgT	p.W300C	LRRTM4_ENST00000409282.1_Missense_Mutation_p.W301C|LRRTM4_ENST00000409093.1_Missense_Mutation_p.W300C|LRRTM4_ENST00000409911.1_Missense_Mutation_p.W301C|LRRTM4_ENST00000409884.1_Missense_Mutation_p.W300C	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	300						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTAATGATATCCACGCATTGA	0.373													4	18					2.56e-06	5.2674e-06	1	0	A	77746095	C	A	77746095	3	1	210	1	0	0	0	0	1	0	0	0	9106	856	30	2	886	2	LRRTM4	2	77746095	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3946209	77746095	165453278	109	37345											
C2orf68	388969	broad.mit.edu	37	chr2	85836166	85836166	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtgtgtgccgacaccttctCactcacctttcctgggtcat	5	13	8	15	2	3	0	3	0	1	0	5	1	4	0	4	1	1	0	4	1	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:85836166C>G	ENST00000306336.5	-	4	447	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	135										breast(1)|central_nervous_system(1)|endometrium(1)	3						GACACCTTCTCACTCACCTTT	0.577													5	45					0	0	0	0	G	85836166	C	G	85836166	3	3	210	1	0	0	0	0	1	0	0	0	2207	835	29	2	101	2	C2orf68	2	85836166	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	8090071	85836166	157363207	110	37346											
SMYD1	150572	broad.mit.edu	37	chr2	88402603	88402603	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaagtggtgaaggagatGatacaattctccaaggatac	15	8	12	6	0	1	3	0	2	1	1	2	6	1	5	1	4	2	0	1	4	6	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:88402603G>C	ENST00000419482.2	+	7	1000	c.915G>C	c.(913-915)atG>atC	p.M305I	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.M292I	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGAAGGAGATGATACAATTCT	0.453													4	46					0	0	0	0	C	88402603	G	C	88402603	3	2	210	1	0	0	0	0	1	0	0	0	14909	1290	45	2	941	2	SMYD1	2	88402603	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2566437	88402603	154796770	111	37347											
INPP4A	3631	broad.mit.edu	37	chr2	99180077	99180077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgagcctgcagtaccgcCgtgacgtggtcttctgccag	6	9	12	14	3	2	2	0	2	2	0	2	2	2	2	5	1	4	2	5	1	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:99180077C>T	ENST00000074304.5	+	19	2413	c.2020C>T	c.(2020-2022)Cgt>Tgt	p.R674C	INPP4A_ENST00000409540.3_Missense_Mutation_p.R635C|INPP4A_ENST00000545415.1_Missense_Mutation_p.R635C|INPP4A_ENST00000523221.1_Missense_Mutation_p.R674C|INPP4A_ENST00000409016.3_Missense_Mutation_p.R635C|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Missense_Mutation_p.R669C	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	674					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GCAGTACCGCCGTGACGTGGT	0.622													5	39					0	0	0	0	T	99180077	C	T	99180077	3	4	210	1	0	0	0	0	1	0	0	0	7805	652	23	1	2086	1	INPP4A	2	99180077	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	10777474	99180077	144019296	112	37348											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105897018	105897018	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcgttcaggtagctcatGaggaagcgtttgcacttggc	8	11	12	10	2	2	1	2	1	0	0	3	2	2	2	1	3	3	5	1	3	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:105897018G>A	ENST00000393359.2	-	6	1710	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	TGFBRAP1_ENST00000258449.1_Silent_p.L428L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	428					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GGTAGCTCATGAGGAAGCGTT	0.572													18	80					0	0	0	0	A	105897018	G	A	105897018	2	1	210	1	0	0	0	0	0	0	0	1	15918	1277	45	2		2	TGFBRAP1	2	105897018	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	6716941	105897018	137302355	113	37349											
ST6GAL2	84620	broad.mit.edu	37	chr2	107450599	107450599	+	Frame_Shift_Del	DEL	G	G	-																															atctcaaaaccgcatcatgaGaatctaagggcacataagtg																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:107450599delG	ENST00000409382.3	-	3	1557	c.947delC	c.(946-948)ttfs	p.S316fs	ST6GAL2_ENST00000409087.3_Frame_Shift_Del_p.S316fs|ST6GAL2_ENST00000361686.4_Frame_Shift_Del_p.S316fs	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	316					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						CGCATCATGAGAATCTAAGGG	0.363													7	94	---	---	---	---					-	107450599	G	-	107450599	7	5	210	1	0	1	0	1	0	0	0	0	15312	942	33	0	745	0	ST6GAL2	2	107450599	Frame_Shift_Del	DEL	G	TCGA-CR-7388-01A-11D-2012-08	1553581	107450599	135748774	114	37350											
SH3RF3	344558	broad.mit.edu	37	chr2	109988086	109988086	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtggatgagaactgggcGgaaggcatgctgggagacaa	13	5	18	5	1	0	3	0	1	0	3	0	7	0	5	0	5	2	2	0	5	3	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:109988086G>T	ENST00000309415.6	+	3	894	c.894G>T	c.(892-894)gcG>gcT	p.A298A		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	298	SH3 2.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGAACTGGGCGGAAGGCATGC	0.577													9	35					1.76689e-08	3.80545e-08	1	0	T	109988086	G	T	109988086	2	4	210	1	0	0	0	0	0	0	0	1	14348	1103	39	3		3	SH3RF3	2	109988086	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2537487	109988086	133211287	115	37351											
GLI2	2736	broad.mit.edu	37	chr2	121743959	121743959	+	Frame_Shift_Del	DEL	C	C	-																															tggagatgccggggacggggCccgggagcctgggagacctg																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:121743959delC	ENST00000452319.1	+	13	2122	c.2062delC	c.(2062-2064)ccfs	p.P688fs	GLI2_ENST00000361492.4_Frame_Shift_Del_p.P688fs|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Frame_Shift_Del_p.P360fs			P10070	GLI2_HUMAN	GLI family zinc finger 2	688					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)				GGGGACGGGGCCCGGGAGCCT	0.711													12	30	---	---	---	---					-	121743959	C	-	121743959	7	5	210	1	0	1	0	1	0	0	0	0	6489	739	26	0	2108	0	GLI2	2	121743959	Frame_Shift_Del	DEL	C	TCGA-CR-7388-01A-11D-2012-08	11755873	121743959	121455414	116	37352											
MYO7B	4648	broad.mit.edu	37	chr2	128335742	128335742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgaggggctcaacgacgCcaaggactacgcccacatcc	10	5	11	15	3	1	1	1	1	0	0	2	3	2	2	3	3	2	1	3	3	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:128335742C>T	ENST00000389524.4	+	9	937	c.884C>T	c.(883-885)gCc>gTc	p.A295V	MYO7B_ENST00000428314.1_Missense_Mutation_p.A295V|MYO7B_ENST00000409816.2_Missense_Mutation_p.A295V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	295	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTCAACGACGCCAAGGACTAC	0.632													10	20					0	0	0	0	T	128335742	C	T	128335742	3	4	210	1	0	0	0	0	1	0	0	0	10153	739	26	4	914	4	MYO7B	2	128335742	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	6591783	128335742	114863631	117	37353											
R3HDM1	23518	broad.mit.edu	37	chr2	136362449	136362449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atactgttactgtaaaagatGaaactgcaacaatgaaggat	18	10	8	5	0	0	3	0	2	0	1	0	4	0	4	0	1	5	3	0	1	8	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:136362449G>A	ENST00000264160.4	+	3	404	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	R3HDM1_ENST00000409478.1_Missense_Mutation_p.E12K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.E12K|R3HDM1_ENST00000410054.1_Intron|R3HDM1_ENST00000329971.3_Missense_Mutation_p.E12K	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	12							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TGTAAAAGATGAAACTGCAAC	0.328													8	51					0	0	0	0	A	136362449	G	A	136362449	3	1	210	1	0	0	0	0	1	0	0	0	12969	1291	45	2	36	2	R3HDM1	2	136362449	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	8026707	136362449	106836924	118	37354											
ZEB2	9839	broad.mit.edu	37	chr2	145147399	145147399	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcgcgctccgccgcttcCcgctcctccgcctcccgctt	0	9	8	24	7	0	0	0	0	0	0	6	0	5	0	8	0	0	4	8	0	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:145147399C>T	ENST00000558170.2	-	10	4448	c.3264G>A	c.(3262-3264)cgG>cgA	p.R1088R	ZEB2_ENST00000409487.3_Silent_p.R1088R|ZEB2_ENST00000303660.4_Silent_p.R1088R|ZEB2_ENST00000539609.3_Silent_p.R1064R	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1088	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCGCCGCTTCCCGCTCCTCCG	0.592													8	68					0	0	0	0	T	145147399	C	T	145147399	2	4	210	1	0	0	0	0	0	0	0	1	17719	610	22	4		4	ZEB2	2	145147399	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	8784950	145147399	98051974	119	37355											
NMI	9111	broad.mit.edu	37	chr2	152138558	152138558	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatttcatcaattagtccCttaaaaatatcaaatggtac	16	14	4	7	0	3	0	3	0	0	0	4	0	4	0	1	1	1	2	1	1	9	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:152138558C>T	ENST00000243346.5	-	3	552		c.e3-1			NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor						inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CAATTAGTCCCTTAAAAATAT	0.333													5	16					0	0	0	0	T	152138558	C	T	152138558	5	4	210	1	0	0	0	0	0	0	1	0	10567	695	24	4	866	4	NMI	2	152138558	Splice_Site	SNP	C	TCGA-CR-7388-01A-11D-2012-08	6991159	152138558	91060815	120	37356											
BAZ2B	29994	broad.mit.edu	37	chr2	160294955	160294955	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaccaaagataaaggtttCacattggacaccaatcccgt	14	11	6	10	1	1	1	1	0	0	1	2	2	2	2	3	2	1	1	3	2	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:160294955C>G	ENST00000392783.2	-	8	1647	c.1152G>C	c.(1150-1152)gtG>gtC	p.V384V	BAZ2B_ENST00000392782.1_Silent_p.V382V|BAZ2B_ENST00000355831.2_Silent_p.V384V|BAZ2B_ENST00000343439.5_Silent_p.V382V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATAAAGGTTTCACATTGGACA	0.393													22	62					0	0	0	0	G	160294955	C	G	160294955	2	3	210	1	0	0	0	0	0	0	0	1	1336	813	29	2		2	BAZ2B	2	160294955	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	8156397	160294955	82904418	121	37357											
ITGB6	3694	broad.mit.edu	37	chr2	160994114	160994114	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttgcaggaatctgtgctCagcatgtcctcgccacactc	7	11	8	15	1	2	0	1	0	1	0	6	1	4	1	3	1	3	3	3	1	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:160994114C>G	ENST00000283249.2	-	10	1728	c.1491G>C	c.(1489-1491)ctG>ctC	p.L497L	ITGB6_ENST00000409872.1_Silent_p.L497L|ITGB6_ENST00000409967.2_Silent_p.L497L|ITGB6_ENST00000428609.2_Silent_p.L455L			P18564	ITB6_HUMAN	integrin, beta 6	497	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AATCTGTGCTCAGCATGTCCT	0.602													4	55					0	0	0	0	G	160994114	C	G	160994114	2	3	210	1	0	0	0	0	0	0	0	1	7952	813	29	2		2	ITGB6	2	160994114	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	699159	160994114	82205259	122	37358											
SLC4A10	57282	broad.mit.edu	37	chr2	162711549	162711549	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagccttatgtggctactctTtcattgcacagcttgtttga	8	16	8	9	0	2	1	1	1	1	0	2	1	2	1	1	1	4	4	1	1	3	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:162711549T>C	ENST00000375514.5	+	6	806	c.519T>C	c.(517-519)ctT>ctC	p.L173L	SLC4A10_ENST00000415876.2_Silent_p.L162L|SLC4A10_ENST00000446997.1_Silent_p.L162L|SLC4A10_ENST00000272716.5_Silent_p.L162L|SLC4A10_ENST00000421911.1_Silent_p.L162L|SLC4A10_ENST00000535165.1_Silent_p.L162L|SLC4A10_ENST00000493021.1_3'UTR	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	162					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGCTACTCTTTCATTGCACA	0.388													7	50					0	0	0	0	C	162711549	T	C	162711549	2	2	210	1	0	0	0	0	0	0	0	1	14739	1828	64	5		5	SLC4A10	2	162711549	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	1717435	162711549	80487824	123	37359											
DPP4	1803	broad.mit.edu	37	chr2	162891810	162891810	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtttggagaccaccacagaGcagagtaggcactgaagact	13	6	12	10	1	0	5	0	1	0	4	0	6	0	5	2	2	1	4	2	2	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:162891810G>C	ENST00000360534.3	-	9	1198	c.638C>G	c.(637-639)gCt>gGt	p.A213G		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	213					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	CCACCACAGAGCAGAGTAGGC	0.398													9	42					0	0	0	0	C	162891810	G	C	162891810	3	2	210	1	0	0	0	0	1	0	0	0	4765	971	34	4	1734	4	DPP4	2	162891810	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	180261	162891810	80307563	124	37360											
SCN9A	6335	broad.mit.edu	37	chr2	167159754	167159754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagaacacagtcaggatCatgacatcagaaagcttctt	16	8	8	9	0	4	4	3	1	1	3	4	5	4	5	0	1	2	1	0	1	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:167159754C>A	ENST00000303354.6	-	7	1090	c.750G>T	c.(748-750)atG>atT	p.M250I	SCN9A_ENST00000409435.1_Missense_Mutation_p.M249I|SCN9A_ENST00000409672.1_Missense_Mutation_p.M249I|SCN9A_ENST00000375387.4_Missense_Mutation_p.M250I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	249						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGTCAGGATCATGACATCAG	0.393													6	30					0.00198382	0.00375531	1	0	A	167159754	C	A	167159754	3	1	210	1	0	0	0	0	1	0	0	0	14012	826	29	2	5270	2	SCN9A	2	167159754	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4267944	167159754	76039619	125	37361											
ABCB11	8647	broad.mit.edu	37	chr2	169791840	169791840	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaatggctgtcttgaaGggcttctccagctcagtctc	6	14	10	11	0	5	2	1	2	4	0	7	2	5	2	1	2	1	3	1	2	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:169791840G>T	ENST00000263817.6	-	23	3034	c.2910C>A	c.(2908-2910)ccC>ccA	p.P970P		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	970	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTGTCTTGAAGGGCTTCTCCA	0.453													31	124					1.75199e-13	4.12329e-13	1	0	T	169791840	G	T	169791840	2	4	210	1	0	0	0	0	0	0	0	1	42	987	35	4		4	ABCB11	2	169791840	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2632086	169791840	73407533	126	37362											
LRP2	4036	broad.mit.edu	37	chr2	169989114	169989114	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagcagctggtgaagttggGtttgtctctggaactatctc	7	14	12	8	0	3	1	1	1	2	0	5	2	3	2	0	3	3	4	0	3	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:169989114G>A	ENST00000263816.3	-	77	13983	c.13698C>T	c.(13696-13698)aaC>aaT	p.N4566N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4566					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGAAGTTGGGTTTGTCTCTG	0.408													23	66					0	0	0	0	A	169989114	G	A	169989114	2	1	210	1	0	0	0	0	0	0	0	1	9020	1252	44	4		4	LRP2	2	169989114	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	197274	169989114	73210259	127	37363											
WIPF1	7456	broad.mit.edu	37	chr2	175436931	175436931	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcactggtggggaccccCggttgtgcggacttgattga	5	9	17	10	3	0	2	0	2	0	0	0	4	0	4	2	6	1	2	2	6	0	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:175436931C>A	ENST00000392547.2	-	5	701	c.602G>T	c.(601-603)cGg>cTg	p.R201L	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.R201L|WIPF1_ENST00000392546.2_Missense_Mutation_p.R201L|WIPF1_ENST00000409891.1_Missense_Mutation_p.R201L|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.R201L|WIPF1_ENST00000359761.3_Missense_Mutation_p.R201L	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	201					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TGGGGACCCCCGGTTGTGCGG	0.652													18	70					1.28384e-07	2.71498e-07	1	0	A	175436931	C	A	175436931	3	1	210	1	0	0	0	0	1	0	0	0	17463	652	23	3	925	3	WIPF1	2	175436931	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	5447817	175436931	67762442	128	37364											
TTN	7273	broad.mit.edu	37	chr2	179614079	179614079	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatgaattcagccctgaTgggcttgctgatttttatgg	7	17	11	6	0	1	3	1	3	0	0	1	3	1	3	1	2	2	3	1	2	3	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:179614079T>C	ENST00000360870.5	-	46	13270	c.13048A>G	c.(13048-13050)Atc>Gtc	p.I4350V	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	484	Ig-like 23.						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)			TCAGCCCTGATGGGCTTGCTG	0.423													18	99					0	0	0	0	C	179614079	T	C	179614079	3	2	210	1	0	0	0	0	1	0	0	0	16831	1464	51	5	97249	5	TTN	2	179614079	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	4177148	179614079	63585294	129	37365											
MSTN	2660	broad.mit.edu	37	chr2	190926956	190926956	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataggactacttacactctgTaggcatggtaatgattgttt	11	15	9	6	0	1	1	0	1	1	0	1	2	1	2	0	3	2	4	0	3	5	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:190926956T>C	ENST00000260950.4	-	1	499	c.367A>G	c.(367-369)Aca>Gca	p.T123A	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	123					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTACACTCTGTAGGCATGGTA	0.398													25	54					0	0	0	0	C	190926956	T	C	190926956	3	2	210	1	0	0	0	0	1	0	0	0	9963	1638	57	5	772	5	MSTN	2	190926956	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	11312877	190926956	52272417	130	37366											
MYO1B	4430	broad.mit.edu	37	chr2	192273886	192273886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actcacaaggagctaaaaagGattttccacttgtggagggt	13	10	11	7	0	1	0	1	0	0	0	2	3	2	3	1	4	1	1	1	4	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:192273886G>C	ENST00000392318.3	+	26	2995	c.2748G>C	c.(2746-2748)agG>agC	p.R916S	MYO1B_ENST00000304164.4_Missense_Mutation_p.R916S|MYO1B_ENST00000392316.1_Missense_Mutation_p.R887S|MYO1B_ENST00000439065.2_Missense_Mutation_p.R161S|MYO1B_ENST00000339514.4_Missense_Mutation_p.R858S	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	916						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGCTAAAAAGGATTTTCCACT	0.323													16	74					0	0	0	0	C	192273886	G	C	192273886	3	2	210	1	0	0	0	0	1	0	0	0	10139	1165	41	2	2846	2	MYO1B	2	192273886	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1346930	192273886	50925487	131	37367											
DNAH7	56171	broad.mit.edu	37	chr2	196729351	196729351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagactgccttccactccctCcaacccctactaggagagca	10	7	6	18	0	0	2	0	0	0	2	3	3	3	2	6	1	4	1	6	1	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:196729351C>T	ENST00000312428.6	-	41	7128	c.7028G>A	c.(7027-7029)gGa>gAa	p.G2343E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2343	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCACTCCCTCCAACCCCTAC	0.483													4	52					0	0	0	0	T	196729351	C	T	196729351	3	4	210	1	0	0	0	0	1	0	0	0	4642	855	30	2	5146	2	DNAH7	2	196729351	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4455465	196729351	46470022	132	37368											
SATB2	23314	broad.mit.edu	37	chr2	200137230	200137230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtctgggtacaggcctaCatcatgaataaagctttgga	11	11	11	8	0	2	1	1	1	1	0	2	2	2	2	1	4	3	2	1	4	5	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:200137230C>A	ENST00000443023.1	-	10	3194	c.1729G>T	c.(1729-1731)Gta>Tta	p.V577L	SATB2_ENST00000417098.1_Missense_Mutation_p.V636L|SATB2_ENST00000260926.5_Missense_Mutation_p.V636L|SATB2_ENST00000428695.1_Missense_Mutation_p.V518L|SATB2_ENST00000457245.1_Missense_Mutation_p.V636L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	636						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TACAGGCCTACATCATGAATA	0.532													13	67					0.00010058	0.000197439	1	0	A	200137230	C	A	200137230	3	1	210	1	0	0	0	0	1	0	0	0	13940	478	17	4	299	4	SATB2	2	200137230	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3407879	200137230	43062143	133	37369											
ALS2CR11	151254	broad.mit.edu	37	chr2	202400908	202400908	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattgtttcctggttagaaaTagtgcacaatgagtgcactt	11	15	9	6	0	0	2	0	1	0	1	1	2	1	2	1	1	2	4	1	1	5	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:202400908T>G	ENST00000439140.1	-	13	1386	c.1342A>C	c.(1342-1344)Att>Ctt	p.I448L	ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.I448L|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.I448L	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	448										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TGGTTAGAAATAGTGCACAAT	0.383													21	113					0	0	0	0	G	202400908	T	G	202400908	3	3	210	1	0	0	0	0	1	0	0	0	552	1406	49	5	4283	5	ALS2CR11	2	202400908	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	2263678	202400908	40798465	134	37370											
WDR12	55759	broad.mit.edu	37	chr2	203748374	203748374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatgttatctaaagatcctGaaatcagctgctgttcatgg	12	13	8	8	0	3	2	2	1	1	1	4	2	4	2	1	1	2	4	1	1	5	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:203748374G>A	ENST00000261015.3	-	11	1828	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	360	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TAAAGATCCTGAAATCAGCTG	0.378													6	38					0	0	0	0	A	203748374	G	A	203748374	3	1	210	1	0	0	0	0	1	0	0	0	17370	1294	45	2	204	2	WDR12	2	203748374	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1347466	203748374	39450999	135	37371											
PTH2R	5746	broad.mit.edu	37	chr2	209308194	209308194	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acataggagtaaaggagctgGagtccctaataatgcaggat	15	8	12	6	0	0	0	0	0	0	0	1	4	1	4	1	4	2	3	1	4	5	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:209308194G>T	ENST00000272847.2	+	6	844	c.631G>T	c.(631-633)Gag>Tag	p.E211*	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	211						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AAAGGAGCTGGAGTCCCTAAT	0.398													12	51					4.36969e-10	9.75935e-10	1	0	T	209308194	G	T	209308194	4	4	210	1	0	0	0	0	0	1	0	0	12840	1175	41	2	653	2	PTH2R	2	209308194	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	5559820	209308194	33891179	136	37372											
VWC2L	402117	broad.mit.edu	37	chr2	215301378	215301378	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtgaatggtgtcgctGtgagcccagcaatgaagttc	9	11	12	9	1	0	3	0	3	0	0	3	3	1	3	2	1	2	3	2	1	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:215301378G>C	ENST00000312504.5	+	3	1218	c.416G>C	c.(415-417)tGt>tCt	p.C139S	AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Intron	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	139	VWFC 2.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TGGTGTCGCTGTGAGCCCAGC	0.448													13	41					0	0	0	0	C	215301378	G	C	215301378	3	2	210	1	0	0	0	0	1	0	0	0	17340	1377	48	4	422	4	VWC2L	2	215301378	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	5993184	215301378	27897995	137	37373											
ABCA12	26154	broad.mit.edu	37	chr2	215854053	215854053	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggaagcacattcatacCtgggaagacattcctgacat	13	10	9	9	0	1	2	1	1	0	1	2	4	2	4	2	2	2	2	2	2	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:215854053C>T	ENST00000272895.7	-	26	4048	c.3829_splice	c.e26+1	p.G1277_splice	ABCA12_ENST00000389661.4_Splice_Site_p.G959_splice	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1277					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACATTCATACCTGGGAAGACA	0.338													5	26					0	0	0	0	T	215854053	C	T	215854053	5	4	210	1	0	0	0	0	0	0	1	0	30	695	24	4	4070	4	ABCA12	2	215854053	Splice_Site	SNP	C	TCGA-CR-7388-01A-11D-2012-08	552675	215854053	27345320	138	37374											
PECR	55825	broad.mit.edu	37	chr2	216904001	216904001	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccttgtttcctcagctcaGagcttagctttctccttaaa	8	15	5	13	0	3	1	2	0	1	1	5	1	4	1	3	0	3	4	3	0	3	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:216904001G>C	ENST00000265322.7	-	8	983	c.909C>G	c.(907-909)ctC>ctG	p.L303L		NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	303					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CCTCAGCTCAGAGCTTAGCTT	0.433													19	83					0	0	0	0	C	216904001	G	C	216904001	2	2	210	1	0	0	0	0	0	0	0	1	11788	929	33	2		2	PECR	2	216904001	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1049948	216904001	26295372	139	37375											
CCDC108	255101	broad.mit.edu	37	chr2	219873820	219873820	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcctgccgcaccttctcGtccttccactcctgcagctc	4	12	5	20	2	1	0	0	0	1	0	7	0	5	0	6	0	3	3	6	0	0	3	rs149741043		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:219873820G>A	ENST00000341552.5	-	29	4706	c.4623C>T	c.(4621-4623)gaC>gaT	p.D1541D	CCDC108_ENST00000453220.1_Silent_p.D1541D|CCDC108_ENST00000441968.1_Silent_p.D1541D|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1541						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACCTTCTCGTCCTTCCACT	0.547													17	57					0	0	0	0	A	219873820	G	A	219873820	2	1	210	1	0	0	0	0	0	0	0	1	2768	1136	40	1		1	CCDC108	2	219873820	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2969819	219873820	23325553	140	37376											
KCNJ13	3769	broad.mit.edu	37	chr2	233635666	233635666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatttgtatggcaagtaagGcgattgcacttggacagtca	11	11	12	7	1	1	0	1	0	0	0	1	2	1	1	0	3	1	5	0	3	3	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:233635666G>A	ENST00000233826.3	-	2	546	c.407C>T	c.(406-408)gCc>gTc	p.A136V	GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000373566.3_Intron|KCNJ13_ENST00000409779.1_Intron|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000452341.2_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.A136V	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	136						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GGCAAGTAAGGCGATTGCACT	0.413													12	50					0	0	0	0	A	233635666	G	A	233635666	3	1	210	1	0	0	0	0	1	0	0	0	8100	1203	42	4	683	4	KCNJ13	2	233635666	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	13761846	233635666	9563707	141	37377											
KIF1A	547	broad.mit.edu	37	chr2	241727548	241727548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacccgtctgcccataggCgaagatgcacacgttgtatc	9	8	11	13	3	1	1	0	0	1	1	2	2	1	1	2	2	2	4	2	2	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:241727548C>T	ENST00000498729.2	-	4	529	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	KIF1A_ENST00000320389.7_Missense_Mutation_p.A95T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	95	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGCCCATAGGCGAAGATGCAC	0.617													5	13					0	0	0	0	T	241727548	C	T	241727548	3	4	210	1	0	0	0	0	1	0	0	0	8334	768	27	1	4965	1	KIF1A	2	241727548	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	8091882	241727548	1471825	142	37378											
PASK	23178	broad.mit.edu	37	chr2	242054809	242054809	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccaagaccttctccttcTtaataaacttcaccaccacc	11	11	1	18	0	3	1	1	0	2	1	5	1	4	1	7	0	1	0	7	0	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:242054809T>C	ENST00000403638.3	-	13	3183	c.3092A>G	c.(3091-3093)aAg>aGg	p.K1031R	PASK_ENST00000234040.4_Missense_Mutation_p.K1031R|PASK_ENST00000539818.1_Missense_Mutation_p.K815R|PASK_ENST00000358649.4_Missense_Mutation_p.K1031R|PASK_ENST00000544142.1_Missense_Mutation_p.K845R|PASK_ENST00000405260.1_Missense_Mutation_p.K1031R	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1031	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTTCTCCTTCTTAATAAACTT	0.493													15	48					0	0	0	0	C	242054809	T	C	242054809	3	2	210	1	0	0	0	0	1	0	0	0	11543	1609	56	5	903	5	PASK	2	242054809	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	327261	242054809	1144564	143	37379											
ITPR1	3708	broad.mit.edu	37	chr3	4847887	4847887	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttgagttcctctatcAtttgttgtatctggtgatct	6	19	10	6	0	4	2	1	2	3	0	5	3	5	3	1	2	0	4	1	2	2	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:4847887A>G	ENST00000354582.6	+	54	7513	c.7163A>G	c.(7162-7164)cAt>cGt	p.H2388R	ITPR1_ENST00000544951.1_Missense_Mutation_p.H366R|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Missense_Mutation_p.H2340R|ITPR1_ENST00000443694.2_Missense_Mutation_p.H2388R|ITPR1_ENST00000423119.2_Missense_Mutation_p.H2355R|ITPR1_ENST00000357086.4_Missense_Mutation_p.H2355R|ITPR1_ENST00000302640.8_Missense_Mutation_p.H2388R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2403					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTCCTCTATCATTTGTTGTAT	0.443													22	35					0	0	0	0	G	4847887	A	G	4847887	3	3	210	1	0	0	0	0	1	0	0	0	7973	217	8	5	7418	5	ITPR1	3	4847887	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08		4847887	193174543	144	37380											
OGG1	4968	broad.mit.edu	37	chr3	9796474	9796474	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcccgagccatcctggaaGaacagggcgggctagcctgg	8	5	16	12	2	0	1	0	0	0	1	1	3	1	2	4	4	4	1	4	4	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:9796474G>C	ENST00000302036.7	+	4	995	c.652G>C	c.(652-654)Gaa>Caa	p.E218Q	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000344629.7_Missense_Mutation_p.E218Q|OGG1_ENST00000302003.7_Missense_Mutation_p.E218Q|OGG1_ENST00000449570.2_Missense_Mutation_p.E218Q|OGG1_ENST00000302008.8_Missense_Mutation_p.E218Q|OGG1_ENST00000339511.5_Missense_Mutation_p.E218Q|OGG1_ENST00000349503.5_Missense_Mutation_p.E218Q	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	218					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CATCCTGGAAGAACAGGGCGG	0.642								Base excision repair (BER), DNA glycosylases					5	16					0	0	0	0	C	9796474	G	C	9796474	3	2	210	1	0	0	0	0	1	0	0	0	10916	943	33	2	666	2	OGG1	3	9796474	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	4948587	9796474	188225956	145	37381											
CRELD1	78987	broad.mit.edu	37	chr3	9985648	9985648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgctggaagttgggttctCatccccactctacatatgta	9	12	9	11	1	2	0	1	0	2	0	4	2	3	1	2	2	1	4	2	2	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:9985648C>T	ENST00000326434.5	+	11	1195	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y	CRELD1_ENST00000397170.3_Intron|CRELD1_ENST00000383811.3_Intron|CRELD1_ENST00000489674.1_Intron|CRELD1_ENST00000452070.1_Intron	NM_001031717.3	NP_001026887.1	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	0					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						gttgggttctcatccccactc	0.468													5	80					0	0	0	0	T	9985648	C	T	9985648	3	4	210	1	0	0	0	0	1	0	0	0	3896	826	29	2	1149	2	CRELD1	3	9985648	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	189174	9985648	188036782	146	37382											
MYRIP	25924	broad.mit.edu	37	chr3	40231679	40231679	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccgcaggctcttccCgagaagttgggcaccaggcc	6	7	11	17	2	1	1	0	0	1	1	4	2	4	1	6	3	0	4	6	3	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:40231679C>A	ENST00000302541.6	+	10	1732	c.1390C>A	c.(1390-1392)Cga>Aga	p.R464R	MYRIP_ENST00000396217.3_Silent_p.R375R|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Silent_p.R464R|MYRIP_ENST00000539167.1_Silent_p.R277R|MYRIP_ENST00000425621.1_Silent_p.R464R	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	464	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGGCTCTTCCCGAGAAGTTGG	0.622													15	42					0.000308642	0.00060048	1	0	A	40231679	C	A	40231679	2	1	210	1	0	0	0	0	0	0	0	1	10170	644	23	3		3	MYRIP	3	40231679	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	30246031	40231679	157790751	147	37383											
CCDC13	152206	broad.mit.edu	37	chr3	42793455	42793455	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtctcccatctgggccctCggtggcttggctcctgcgtc	1	12	12	16	2	2	0	0	0	2	0	6	0	3	0	3	4	1	2	3	4	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:42793455C>T	ENST00000310232.6	-	5	659	c.576G>A	c.(574-576)ccG>ccA	p.P192P	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	192										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCTGGGCCCTCGGTGGCTTGG	0.597													21	49					0	0	0	0	T	42793455	C	T	42793455	2	4	210	1	0	0	0	0	0	0	0	1	2790	871	31	1		1	CCDC13	3	42793455	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2561776	42793455	155228975	148	37384											
ZNF445	353274	broad.mit.edu	37	chr3	44489577	44489577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaattttctcatgccgcGcacagttggaactccaccgg	8	11	10	12	3	1	1	1	1	1	0	3	2	2	2	3	2	2	2	3	2	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:44489577G>A	ENST00000425708.2	-	7	1927	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V	ZNF445_ENST00000396077.2_Missense_Mutation_p.A529V			P59923	ZN445_HUMAN	zinc finger protein 445	529					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTCATGCCGCGCACAGTTGGA	0.483													9	73					0	0	0	0	A	44489577	G	A	44489577	3	1	210	1	0	0	0	0	1	0	0	0	18013	1087	38	1	1513	1	ZNF445	3	44489577	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1696122	44489577	153532853	149	37385											
DNAH1	25981	broad.mit.edu	37	chr3	52404172	52404172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgaaggaggtgatcgcctCaaccaactgcaacctgacca	13	6	10	12	1	1	3	1	3	0	0	2	4	1	4	4	2	4	1	4	2	4	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:52404172C>T	ENST00000420323.2	+	39	6446	c.6185C>T	c.(6184-6186)tCa>tTa	p.S2062L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2062					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T2063delT(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTGATCGCCTCAACCAACTGC	0.577													4	30					0	0	0	0	T	52404172	C	T	52404172	3	4	210	1	0	0	0	0	1	0	0	0	4634	838	29	2	6335	2	DNAH1	3	52404172	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	7914595	52404172	145618258	150	37386											
ITIH4	3700	broad.mit.edu	37	chr3	52852070	52852070	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgtgcctctctcacctTgctcagggtctgagagcagg	5	11	14	11	0	4	1	2	1	2	1	5	2	4	1	2	3	3	2	2	3	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:52852070T>C	ENST00000266041.4	-	20	2390	c.2294A>G	c.(2293-2295)cAa>cGa	p.Q765R	ITIH4_ENST00000346281.5_Missense_Mutation_p.Q749R|ITIH4_ENST00000406595.1_Missense_Mutation_p.Q735R|ITIH4_ENST00000485816.1_Missense_Mutation_p.Q770R	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	765					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCTCTCACCTTGCTCAGGGTC	0.647													13	27					0	0	0	0	C	52852070	T	C	52852070	3	2	210	1	0	0	0	0	1	0	0	0	7959	1812	63	5	518	5	ITIH4	3	52852070	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	447898	52852070	145170360	151	37387											
CNTN3	5067	broad.mit.edu	37	chr3	74350577	74350577	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagttcttactttttctgaGggtaaacttggttctccacc	7	17	7	10	0	4	1	1	1	3	0	5	1	4	1	2	2	2	3	2	2	3	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:74350577G>A	ENST00000263665.6	-	15	2094	c.2067C>T	c.(2065-2067)ccC>ccT	p.P689P		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	689	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTTTTCTGAGGGTAAACTTG	0.413													14	61					0	0	0	0	A	74350577	G	A	74350577	2	1	210	1	0	0	0	0	0	0	0	1	3672	987	35	4		4	CNTN3	3	74350577	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	21498507	74350577	123671853	152	37388											
VGLL3	389136	broad.mit.edu	37	chr3	87018032	87018032	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatggctgtaggatgggctCacctgagatgtcaaaggata	12	10	13	6	0	2	1	2	1	0	1	2	4	2	3	1	4	0	3	1	4	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:87018032C>A	ENST00000398399.2	-	3	1008	c.645G>T	c.(643-645)gtG>gtT	p.V215V	VGLL3_ENST00000383698.3_Silent_p.V215V	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AGGATGGGCTCACCTGAGATG	0.602													17	34					7.07596e-05	0.000140158	1	0	A	87018032	C	A	87018032	2	1	210	1	0	0	0	0	0	0	0	1	17256	813	29	2		2	VGLL3	3	87018032	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	12667455	87018032	111004398	153	37389											
OR5H1	26341	broad.mit.edu	37	chr3	97852332	97852332	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catttatgtgggccctgcatCtccgcaagcagatgatcaag	10	10	10	11	1	2	2	1	1	1	1	3	2	2	2	2	1	2	3	2	1	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:97852332C>G	ENST00000354565.2	+	1	791	c.791C>G	c.(790-792)tCt>tGt	p.S264C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GGCCCTGCATCTCCGCAAGCA	0.433													13	110					0	0	0	0	G	97852332	C	G	97852332	3	3	210	1	0	0	0	0	1	0	0	0	11230	913	32	2	793	2	OR5H1	3	97852332	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	10834300	97852332	100170098	154	37390											
OR5H1	26341	broad.mit.edu	37	chr3	97852367	97852367	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaagatatggtggagcctCtattctacactgtcatcatt	11	14	7	9	0	5	1	3	0	2	1	5	2	5	2	1	2	2	0	1	2	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:97852367C>G	ENST00000354565.2	+	1	826	c.826C>G	c.(826-828)Cta>Gta	p.L276V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GGTGGAGCCTCTATTCTACAC	0.393													13	101					0	0	0	0	G	97852367	C	G	97852367	3	3	210	1	0	0	0	0	1	0	0	0	11230	912	32	2	828	2	OR5H1	3	97852367	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	35	97852367	100170063	155	37391											
MYH15	22989	broad.mit.edu	37	chr3	108135752	108135752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtttatcagagcctccttCtcttcaagcctccgtaggaa	8	13	8	12	1	3	1	2	0	1	1	6	2	5	2	4	2	2	2	4	2	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:108135752C>G	ENST00000273353.3	-	30	3971	c.3915G>C	c.(3913-3915)gaG>gaC	p.E1305D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1305						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GAGCCTCCTTCTCTTCAAGCC	0.438													8	61					0	0	0	0	G	108135752	C	G	108135752	3	3	210	1	0	0	0	0	1	0	0	0	10104	912	32	2	1977	2	MYH15	3	108135752	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	10283385	108135752	89886678	156	37392											
CD200R1	131450	broad.mit.edu	37	chr3	112648042	112648042	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgatgctccttacctaacActtggaggtgatatccacga	11	12	8	10	1	0	2	0	2	0	0	2	4	2	3	3	2	3	1	3	2	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:112648042A>C	ENST00000471858.1	-	3	678	c.446T>G	c.(445-447)gTg>gGg	p.V149G	CD200R1_ENST00000308611.3_Missense_Mutation_p.V172G|CD200R1_ENST00000295863.4_Missense_Mutation_p.V127G|CD200R1_ENST00000490004.1_Missense_Mutation_p.V149G|CD200R1_ENST00000440122.2_Missense_Mutation_p.V172G	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	149	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.V172A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CTTACCTAACACTTGGAGGTG	0.418													8	93					0	0	0	0	C	112648042	A	C	112648042	3	2	210	1	0	0	0	0	1	0	0	0	3010	159	6	5	598	5	CD200R1	3	112648042	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	4512290	112648042	85374388	157	37393											
WDR52	55779	broad.mit.edu	37	chr3	113085109	113085109	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatttaggacatagactCgaattgctccatttttcatt	10	18	6	7	1	1	2	1	1	0	1	3	4	2	3	1	1	1	1	1	1	3	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:113085109C>A	ENST00000393845.2	-	19	2558	c.2492G>T	c.(2491-2493)cGa>cTa	p.R831L	WDR52_ENST00000295868.2_Missense_Mutation_p.R831L	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	831										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GACATAGACTCGAATTGCTCC	0.308													10	30					0.000442599	0.000856344	1	0	A	113085109	C	A	113085109	3	1	210	1	0	0	0	0	1	0	0	0	17400	884	31	3	3155	3	WDR52	3	113085109	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	437067	113085109	84937321	158	37394											
TMEM39A	55254	broad.mit.edu	37	chr3	119156656	119156656	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggcactgaagagggagttGaagagaacctccttgattct	12	10	12	7	0	1	5	0	3	1	2	2	7	2	6	2	2	1	2	2	2	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:119156656G>A	ENST00000319172.5	-	6	1290	c.870C>T	c.(868-870)ttC>ttT	p.F290F		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	290						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		AGAGGGAGTTGAAGAGAACCT	0.448													7	37					0	0	0	0	A	119156656	G	A	119156656	2	1	210	1	0	0	0	0	0	0	0	1	16255	1281	45	2		2	TMEM39A	3	119156656	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	6071547	119156656	78865774	159	37395											
ADPRH	141	broad.mit.edu	37	chr3	119306495	119306495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgattgcctacgatgctGttcttgctgcaggagactcc	7	12	10	12	1	1	2	0	1	1	1	2	4	2	2	3	1	5	4	3	1	1	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:119306495G>T	ENST00000478399.1	+	4	2249	c.844G>T	c.(844-846)Gtt>Ttt	p.V282F	ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.V282F|ADPRH_ENST00000357003.3_Missense_Mutation_p.V282F|ADPRH_ENST00000478927.1_Missense_Mutation_p.V282F			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	282					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CTACGATGCTGTTCTTGCTGC	0.577													16	50					4.7546e-09	1.03678e-08	1	0	T	119306495	G	T	119306495	3	4	210	1	0	0	0	0	1	0	0	0	331	1377	48	4	854	4	ADPRH	3	119306495	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	149839	119306495	78715935	160	37396											
STXBP5L	9515	broad.mit.edu	37	chr3	120998664	120998664	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcttagagttgcatttggGaactgcaatgggttggctgt	7	15	13	6	0	1	1	0	0	1	1	2	2	1	2	0	3	3	5	0	3	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:120998664G>T	ENST00000273666.6	+	19	2242	c.1971G>T	c.(1969-1971)ggG>ggT	p.G657G	STXBP5L_ENST00000471454.1_Silent_p.G657G|STXBP5L_ENST00000492541.1_Silent_p.G657G|STXBP5L_ENST00000497029.1_Silent_p.G657G|STXBP5L_ENST00000472879.1_Silent_p.G657G	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	657					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTGCATTTGGGAACTGCAATG	0.353													11	75					2.80697e-09	6.15916e-09	1	0	T	120998664	G	T	120998664	2	4	210	1	0	0	0	0	0	0	0	1	15447	1161	41	2		2	STXBP5L	3	120998664	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1692169	120998664	77023766	161	37397											
POLQ	10721	broad.mit.edu	37	chr3	121217352	121217352	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggccatttgtcgatgctGtctctcagttctggctacta	6	15	10	10	1	3	0	1	0	2	0	5	2	3	0	1	2	2	3	1	2	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:121217352G>A	ENST00000264233.5	-	13	2253	c.2125C>T	c.(2125-2127)Cag>Tag	p.Q709*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	709					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGTCGATGCTGTCTCTCAGTT	0.473								DNA polymerases (catalytic subunits)					7	131					0	0	0	0	A	121217352	G	A	121217352	4	1	210	1	0	0	0	0	0	1	0	0	12280	1386	48	4	5719	4	POLQ	3	121217352	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	218688	121217352	76805078	162	37398											
PARP14	54625	broad.mit.edu	37	chr3	122437543	122437543	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgaaattgaggcgatgatCaagagagttcgattggccaa	14	9	13	5	2	1	4	1	3	0	1	2	8	1	4	1	2	0	1	1	2	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:122437543C>G	ENST00000474629.2	+	14	4811	c.4545C>G	c.(4543-4545)atC>atG	p.I1515M	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGGCGATGATCAAGAGAGTTC	0.383													21	229					0	0	0	0	G	122437543	C	G	122437543	3	3	210	1	0	0	0	0	1	0	0	0	11529	816	29	2	4599	2	PARP14	3	122437543	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1220191	122437543	75584887	163	37399											
PDIA5	10954	broad.mit.edu	37	chr3	122811251	122811251	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccacagtggcccaggcGgtgaaaggacaagggaccat	11	5	14	11	1	0	1	0	1	0	0	1	3	1	3	3	5	0	0	3	5	2	0	rs139086659	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:122811251G>T	ENST00000316218.7	+	3	314	c.219G>T	c.(217-219)gcG>gcT	p.A73A		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	73					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGGCCCAGGCGGTGAAAGGAC	0.527													12	52					0.00010058	0.000197439	1	0	T	122811251	G	T	122811251	2	4	210	1	0	0	0	0	0	0	0	1	11742	1103	39	3		3	PDIA5	3	122811251	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	373708	122811251	75211179	164	37400											
PDIA5	10954	broad.mit.edu	37	chr3	122842957	122842957	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctctgaatttgaaaacatCaaggaggagtacagcgtgcg	13	9	11	8	2	2	2	1	2	1	0	3	4	3	4	1	2	4	1	1	2	5	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:122842957C>T	ENST00000316218.7	+	9	749	c.654C>T	c.(652-654)atC>atT	p.I218I		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	218	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TTGAAAACATCAAGGAGGAGT	0.557													17	62					0	0	0	0	T	122842957	C	T	122842957	2	4	210	1	0	0	0	0	0	0	0	1	11742	816	29	2		2	PDIA5	3	122842957	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	31706	122842957	75179473	165	37401											
ALDH1L1	10840	broad.mit.edu	37	chr3	125879705	125879705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcactcacccagggggtCggcctttccatccttgtctg	4	11	11	15	1	3	0	2	0	1	0	6	0	5	0	4	4	0	1	4	4	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:125879705C>A	ENST00000393434.2	-	2	467	c.118G>T	c.(118-120)Gac>Tac	p.D40Y	ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D50Y|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.D40Y|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D40Y|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D40Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	40	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCAGGGGGTCGGCCTTTCCA	0.597													18	102					1.01871e-10	2.29276e-10	1	0	A	125879705	C	A	125879705	3	1	210	1	0	0	0	0	1	0	0	0	494	884	31	3	2678	3	ALDH1L1	3	125879705	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3036748	125879705	72142725	166	37402											
ABTB1	80325	broad.mit.edu	37	chr3	127395201	127395201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgctgcgtcctgggtgcacGtagtgcctactttgccaaca	6	11	11	13	3	0	0	0	0	0	0	2	0	1	0	3	1	6	3	3	1	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:127395201G>A	ENST00000232744.8	+	5	493	c.407G>A	c.(406-408)cGt>cAt	p.R136H	ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000393363.3_5'UTR			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	136	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CTGGGTGCACGTAGTGCCTAC	0.582													7	125					0	0	0	0	A	127395201	G	A	127395201	3	1	210	1	0	0	0	0	1	0	0	0	102	1145	40	1	425	1	ABTB1	3	127395201	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1515496	127395201	70627229	167	37403											
ATP2C1	27032	broad.mit.edu	37	chr3	130649306	130649306	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgaaaatgagacaatgaTtcctgtattgacatcaaaaa	17	11	8	5	0	1	4	1	4	0	1	2	5	2	4	1	1	0	1	1	1	6	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:130649306T>A	ENST00000510168.1	+	3	603	c.53T>A	c.(52-54)aTt>aAt	p.I18N	ATP2C1_ENST00000393221.4_Missense_Mutation_p.I52N|ATP2C1_ENST00000359644.3_Missense_Mutation_p.I18N|ATP2C1_ENST00000328560.8_Missense_Mutation_p.I18N|ATP2C1_ENST00000533801.2_Missense_Mutation_p.I52N|ATP2C1_ENST00000508532.1_Missense_Mutation_p.I18N|ATP2C1_ENST00000507488.2_Missense_Mutation_p.I2N|ATP2C1_ENST00000422190.2_Missense_Mutation_p.I18N|ATP2C1_ENST00000505330.1_Missense_Mutation_p.I2N|ATP2C1_ENST00000504948.1_Missense_Mutation_p.I2N|ATP2C1_ENST00000504381.1_Missense_Mutation_p.I2N|ATP2C1_ENST00000428331.2_Missense_Mutation_p.I18N|ATP2C1_ENST00000513801.1_Missense_Mutation_p.I2N			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	18					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GAGACAATGATTCCTGTATTG	0.363									Hailey-Hailey disease				7	36					0	0	0	0	A	130649306	T	A	130649306	3	1	210	1	0	0	0	0	1	0	0	0	1147	1493	52	5	59	5	ATP2C1	3	130649306	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	3254105	130649306	67373124	168	37404											
DZIP1L	199221	broad.mit.edu	37	chr3	137803006	137803006	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgttcctgcagctgggcacgGagggtgctgatctggcactg	5	10	16	10	1	1	1	0	1	1	0	2	2	2	2	1	4	3	6	1	4	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:137803006G>C	ENST00000327532.2	-	8	1514	c.1152C>G	c.(1150-1152)ctC>ctG	p.L384L	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Silent_p.L384L	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	384						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GCTGGGCACGGAGGGTGCTGA	0.612													5	91					0	0	0	0	C	137803006	G	C	137803006	2	2	210	1	0	0	0	0	0	0	0	1	4900	1161	41	2		2	DZIP1L	3	137803006	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	7153700	137803006	60219424	169	37405											
COPB2	9276	broad.mit.edu	37	chr3	139090585	139090585	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagaatcgtgggcccaTgcaaactcctgagcagatcc	11	8	10	12	1	1	4	0	2	1	2	4	4	3	4	3	1	3	2	3	1	3	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:139090585T>C	ENST00000333188.5	-	10	1366	c.1185A>G	c.(1183-1185)gcA>gcG	p.A395A	COPB2_ENST00000507777.1_Silent_p.A366A	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	395					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CGTGGGCCCATGCAAACTCCT	0.453													7	102					0	0	0	0	C	139090585	T	C	139090585	2	2	210	1	0	0	0	0	0	0	0	1	3759	1451	51	5		5	COPB2	3	139090585	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	1287579	139090585	58931845	170	37406											
TRIM42	287015	broad.mit.edu	37	chr3	140397246	140397246	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgccactgcacctgttctGagagccccaactgccattgg	7	10	9	15	0	2	1	0	1	2	1	2	2	2	1	5	1	5	2	5	1	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:140397246G>C	ENST00000286349.3	+	1	366	c.175G>C	c.(175-177)Gag>Cag	p.E59Q		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	59	Cys-rich.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACCTGTTCTGAGAGCCCCAA	0.537													7	105					0	0	0	0	C	140397246	G	C	140397246	3	2	210	1	0	0	0	0	1	0	0	0	16612	1291	45	2	177	2	TRIM42	3	140397246	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1306661	140397246	57625184	171	37407											
ATR	545	broad.mit.edu	37	chr3	142224127	142224127	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccactccatcaggttcatGcatagcagcatacaatttct	11	11	7	12	0	3	0	2	0	1	0	4	0	4	0	2	2	4	4	2	2	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:142224127G>C	ENST00000350721.4	-	29	5171	c.5050C>G	c.(5050-5052)Cat>Gat	p.H1684D	ATR_ENST00000383101.3_Missense_Mutation_p.H1620D	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1684	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCAGGTTCATGCATAGCAGCA	0.363								Other conserved DNA damage response genes					16	215					0	0	0	0	C	142224127	G	C	142224127	3	2	210	1	0	0	0	0	1	0	0	0	1208	1319	46	4	2960	4	ATR	3	142224127	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1826881	142224127	55798303	172	37408											
PLSCR2	57047	broad.mit.edu	37	chr3	146177778	146177778	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactaggtagtcatgctgacGtcctgggtagaaggcctggg	8	9	16	8	1	1	2	1	1	0	1	2	3	2	2	2	4	1	3	2	4	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:146177778G>C	ENST00000497985.1	-	4	572	c.133C>G	c.(133-135)Cgt>Ggt	p.R45G	PLSCR2_ENST00000336685.2_5'UTR	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	0					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TCATGCTGACGTCCTGGGTAG	0.567													5	23					0	0	0	0	C	146177778	G	C	146177778	3	2	210	1	0	0	0	0	1	0	0	0	12182	1160	40	3		3	PLSCR2	3	146177778	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3953651	146177778	51844652	173	37409											
ZIC4	84107	broad.mit.edu	37	chr3	147113922	147113922	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggggtcgcggtgccgtcGgccgccagccacttgcagat	4	7	15	15	6	0	1	0	0	0	1	3	1	0	1	4	4	3	1	4	4	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:147113922G>C	ENST00000383075.3	-	3	917	c.405C>G	c.(403-405)gcC>gcG	p.A135A	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Silent_p.A135A|ZIC4_ENST00000425731.3_Silent_p.A173A|ZIC4_ENST00000473123.1_Silent_p.A135A|ZIC4_ENST00000525172.2_Silent_p.A185A	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	135						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGGTGCCGTCGGCCGCCAGCC	0.657													12	53					0	0	0	0	C	147113922	G	C	147113922	2	2	210	1	0	0	0	0	0	0	0	1	17776	1103	39	3		3	ZIC4	3	147113922	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	936144	147113922	50908508	174	37410											
FAM194A	131831	broad.mit.edu	37	chr3	150421607	150421607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcttcctcctcctcctcctCctctaactcctcctctgact	3	15	1	22	0	3	1	0	1	3	0	11	1	11	1	8	0	1	0	8	0	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:150421607C>T	ENST00000295910.6	-	1	131	c.79G>A	c.(79-81)Gag>Aag	p.E27K	FAM194A_ENST00000491361.1_5'UTR|RP11-103G8.2_ENST00000471093.1_RNA	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	27	Glu-rich.									NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						tcctcctcctcctctaactcc	0.632													8	34					0	0	0	0	T	150421607	C	T	150421607	3	4	210	1	0	0	0	0	1	0	0	0	5569	864	30	2	1968	2	FAM194A	3	150421607	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3307685	150421607	47600823	175	37411											
SIAH2	6478	broad.mit.edu	37	chr3	150460112	150460112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttcccattcaactccagtCtgtaggcaaagttctcggct	8	12	9	12	1	3	0	1	0	2	0	6	0	5	0	2	3	1	5	2	3	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:150460112C>G	ENST00000312960.3	-	2	1318	c.791G>C	c.(790-792)aGa>aCa	p.R264T		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	264	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAACTCCAGTCTGTAGGCAAA	0.567													4	66					0	0	0	0	G	150460112	C	G	150460112	3	3	210	1	0	0	0	0	1	0	0	0	14388	913	32	2	187	2	SIAH2	3	150460112	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	38505	150460112	47562318	176	37412											
MED12L	116931	broad.mit.edu	37	chr3	151073819	151073819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaacggactaattgacttcGcaatacaggtgtcaaagaga	15	9	9	8	2	2	2	2	1	0	1	3	4	2	3	0	2	2	1	0	2	5	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:151073819G>A	ENST00000474524.1	+	17	2586	c.2548G>A	c.(2548-2550)Gca>Aca	p.A850T	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A710T|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	850					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATTGACTTCGCAATACAGGT	0.448													19	56					0	0	0	0	A	151073819	G	A	151073819	3	1	210	1	0	0	0	0	1	0	0	0	9498	1087	38	1	2614	1	MED12L	3	151073819	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	613707	151073819	46948611	177	37413											
LEKR1	389170	broad.mit.edu	37	chr3	156711004	156711004	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccttgcagaaaatgaactGgagataaccaaaactcttct	17	9	6	9	0	2	3	0	1	2	2	2	4	2	3	2	1	5	1	2	1	7	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:156711004G>T	ENST00000470811.1	+	10	1470	c.135G>T	c.(133-135)ctG>ctT	p.L45L	LEKR1_ENST00000356539.4_Silent_p.L349L			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	58										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAATGAACTGGAGATAACCA	0.328													21	88					4.26978e-12	9.81152e-12	1	0	T	156711004	G	T	156711004	2	4	210	1	0	0	0	0	0	0	0	1	8770	1335	47	4		4	LEKR1	3	156711004	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	5637185	156711004	41311426	178	37414											
GFM1	85476	broad.mit.edu	37	chr3	158399882	158399882	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaggactacactaaatTggaattttcagatgaaacat	16	10	7	8	0	1	3	1	1	0	2	1	5	1	5	1	2	2	0	1	2	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:158399882T>A	ENST00000486715.1	+	14	2057	c.1700T>A	c.(1699-1701)tTg>tAg	p.L567*	GFM1_ENST00000264263.5_Nonsense_Mutation_p.L586*|GFM1_ENST00000478576.1_Nonsense_Mutation_p.L567*	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	567					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TACACTAAATTGGAATTTTCA	0.368													5	25					0	0	0	0	A	158399882	T	A	158399882	4	1	210	1	0	0	0	0	0	1	0	0	6392	1821	63	5	1754	5	GFM1	3	158399882	Nonsense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	1688878	158399882	39622548	179	37415											
KPNA4	3840	broad.mit.edu	37	chr3	160243624	160243624	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattaaaacacaaagggcTggaagaatctgaggagagaa	19	6	12	4	0	1	4	0	2	1	2	1	7	1	6	0	3	1	1	0	3	7	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:160243624T>A	ENST00000334256.4	-	10	1040	c.735A>T	c.(733-735)ccA>ccT	p.P245P		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	245					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CACAAAGGGCTGGAAGAATCT	0.264													4	19					0	0	0	0	A	160243624	T	A	160243624	2	1	210	1	0	0	0	0	0	0	0	1	8484	1567	55	5		5	KPNA4	3	160243624	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	1843742	160243624	37778806	180	37416											
GOLIM4	27333	broad.mit.edu	37	chr3	167750532	167750532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcttgttggattggctctgGgggagcctgaaattctgcct	5	15	13	8	0	3	1	0	1	3	0	3	3	3	3	2	4	2	2	2	4	1	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:167750532G>A	ENST00000470487.1	-	9	1641	c.952C>T	c.(952-954)Cca>Tca	p.P318S	GOLIM4_ENST00000309027.4_Missense_Mutation_p.P290S	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	318	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATTGGCTCTGGGGGAGCCTGA	0.507													58	101					0	0	0	0	A	167750532	G	A	167750532	3	1	210	1	0	0	0	0	1	0	0	0	6614	1232	43	4	1170	4	GOLIM4	3	167750532	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	7506908	167750532	30271898	181	37417											
FNDC3B	64778	broad.mit.edu	37	chr3	172025215	172025215	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgttagcttcaccacccAcagctgtgcacccgagtgtc	7	9	9	16	1	1	0	1	0	0	0	2	1	1	0	4	0	3	4	4	0	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:172025215A>T	ENST00000336824.4	+	10	1223	c.1124A>T	c.(1123-1125)cAc>cTc	p.H375L	FNDC3B_ENST00000416957.1_Missense_Mutation_p.H375L|FNDC3B_ENST00000415807.2_Missense_Mutation_p.H375L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	375						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTCACCACCCACAGCTGTGCA	0.512													23	80					0	0	0	0	T	172025215	A	T	172025215	3	4	210	1	0	0	0	0	1	0	0	0	6015	159	6	5	1158	5	FNDC3B	3	172025215	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	4274683	172025215	25997215	182	37418											
NLGN1	22871	broad.mit.edu	37	chr3	173322659	173322659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catatgcagccccaccaacaGgggaacgtcgttttcagcct	10	8	9	14	2	1	0	1	0	0	0	2	1	1	1	4	2	5	2	4	2	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:173322659G>T	ENST00000457714.1	+	3	700	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W	NLGN1_ENST00000545397.1_Missense_Mutation_p.G91W|NLGN1_ENST00000401917.3_Missense_Mutation_p.G91W|NLGN1_ENST00000361589.4_Missense_Mutation_p.G91W	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	91					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCCACCAACAGGGGAACGTCG	0.448													62	136					1.07796e-43	2.69258e-43	1	0	T	173322659	G	T	173322659	3	4	210	1	0	0	0	0	1	0	0	0	10531	1000	35	4	273	4	NLGN1	3	173322659	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1297444	173322659	24699771	183	37419											
NLGN1	22871	broad.mit.edu	37	chr3	173998723	173998723	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagccctgtactacaaaaAggataagaggagacatgatg	16	7	11	7	0	0	3	0	1	0	2	0	5	0	4	1	2	4	2	1	2	5	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:173998723A>C	ENST00000457714.1	+	7	2531	c.2102A>C	c.(2101-2103)aAg>aCg	p.K701T	NLGN1_ENST00000545397.1_Missense_Mutation_p.K701T|NLGN1_ENST00000401917.3_Missense_Mutation_p.K741T|NLGN1_ENST00000361589.4_Missense_Mutation_p.K701T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	718					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TACTACAAAAAGGATAAGAGG	0.468													20	78					0	0	0	0	C	173998723	A	C	173998723	3	2	210	1	0	0	0	0	1	0	0	0	10531	72	3	5	2120	5	NLGN1	3	173998723	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	676064	173998723	24023707	184	37420											
NLGN1	22871	broad.mit.edu	37	chr3	173999063	173999063	+	Frame_Shift_Del	DEL	C	C	-																															ctgccccatccccatccccaCccccattcacattcaacaac																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:173999063delC	ENST00000457714.1	+	7	2871	c.2442delC	c.(2440-2442)cafs	p.H814fs	NLGN1_ENST00000545397.1_Frame_Shift_Del_p.H814fs|NLGN1_ENST00000401917.3_Frame_Shift_Del_p.H854fs|NLGN1_ENST00000361589.4_Frame_Shift_Del_p.H814fs	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	831					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCCATCCCCACCCCCATTCAC	0.418													16	33	---	---	---	---					-	173999063	C	-	173999063	7	5	210	1	0	1	0	1	0	0	0	0	10531	506	18	0	2460	0	NLGN1	3	173999063	Frame_Shift_Del	DEL	C	TCGA-CR-7388-01A-11D-2012-08	340	173999063	24023367	185	37421											
MCF2L2	23101	broad.mit.edu	37	chr3	182937691	182937691	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtctatctccatatcttcagGagactcgaaatccagcagac	12	10	7	12	1	4	2	1	0	3	2	7	4	5	2	2	1	1	1	2	1	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:182937691G>C	ENST00000328913.3	-	21	2620	c.2323C>G	c.(2323-2325)Cct>Gct	p.P775A	MCF2L2_ENST00000473233.1_Missense_Mutation_p.P775A	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	775	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATATCTTCAGGAGACTCGAAA	0.348													12	188					0	0	0	0	C	182937691	G	C	182937691	3	2	210	1	0	0	0	0	1	0	0	0	9449	1174	41	2	1061	2	MCF2L2	3	182937691	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	8938628	182937691	15084739	186	37422											
MCF2L2	23101	broad.mit.edu	37	chr3	183028720	183028720	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccttacaaaaatcgtgctCaaaatgctgtagttgtaggc	13	12	8	8	1	1	0	1	0	0	0	2	0	1	0	1	1	4	5	1	1	8	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:183028720C>G	ENST00000328913.3	-	9	1273	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	MCF2L2_ENST00000447025.2_Missense_Mutation_p.E326Q|MCF2L2_ENST00000414362.2_Missense_Mutation_p.E326Q|MCF2L2_ENST00000473233.1_Missense_Mutation_p.E326Q	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	326					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AAATCGTGCTCAAAATGCTGT	0.403													3	77					0	0	0	0	G	183028720	C	G	183028720	3	3	210	1	0	0	0	0	1	0	0	0	9449	835	29	2	2456	2	MCF2L2	3	183028720	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	91029	183028720	14993710	187	37423											
ABCF3	55324	broad.mit.edu	37	chr3	183905711	183905711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagagtcggttggaatcatCtggcaagaacaaatcctatg	13	9	12	7	1	2	2	1	0	1	2	4	4	3	3	1	4	1	2	1	4	5	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:183905711C>T	ENST00000429586.2	+	6	694	c.509C>T	c.(508-510)tCt>tTt	p.S170F	ABCF3_ENST00000292808.5_Missense_Mutation_p.S164F|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	170							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGGAATCATCTGGCAAGAAC	0.478													11	117					0	0	0	0	T	183905711	C	T	183905711	3	4	210	1	0	0	0	0	1	0	0	0	67	913	32	2	531	2	ABCF3	3	183905711	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	876991	183905711	14116719	188	37424											
KNG1	3827	broad.mit.edu	37	chr3	186450368	186450368	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccaacagcccagagctgGaggagacactgactcacacc	13	3	9	16	0	1	3	1	1	0	2	1	5	1	4	4	2	3	1	4	2	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:186450368G>T	ENST00000265023.4	+	7	1047	c.835G>T	c.(835-837)Gag>Tag	p.E279*	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Nonsense_Mutation_p.E243*|KNG1_ENST00000287611.2_Nonsense_Mutation_p.E279*	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	279	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CCCAGAGCTGGAGGAGACACT	0.448													6	145					2.0095e-06	4.13957e-06	1	0	T	186450368	G	T	186450368	4	4	210	1	0	0	0	0	0	1	0	0	8479	1175	41	2	861	2	KNG1	3	186450368	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2544657	186450368	11572062	189	37425											
CLRN2	645104	broad.mit.edu	37	chr4	17528565	17528565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtggaagaacagtatgaaGagtcgttttggatctgcgtg	10	12	15	4	2	1	3	0	1	1	2	2	5	1	5	0	3	2	2	0	3	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:17528565G>A	ENST00000511148.2	+	3	661	c.559G>A	c.(559-561)Gag>Aag	p.E187K		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	187						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						ACAGTATGAAGAGTCGTTTTG	0.517													7	43					0	0	0	0	A	17528565	G	A	17528565	3	1	210	1	0	0	0	0	1	0	0	0	3588	943	33	2	569	2	CLRN2	4	17528565	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08		17528565	173625711	190	37426											
KCTD8	386617	broad.mit.edu	37	chr4	44177183	44177183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagctcattacaggaagtcCcactttcacttcctttatca	11	13	5	12	0	3	1	3	0	0	1	5	2	5	2	2	1	2	1	2	1	3	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:44177183C>A	ENST00000360029.3	-	2	1329	c.1046G>T	c.(1045-1047)gGg>gTg	p.G349V		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	349						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ACAGGAAGTCCCACTTTCACT	0.463										HNSCC(17;0.042)			13	30					4.3838e-07	9.226e-07	1	0	A	44177183	C	A	44177183	3	1	210	1	0	0	0	0	1	0	0	0	8168	623	22	4	379	4	KCTD8	4	44177183	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	26648618	44177183	146977093	191	37427											
SPATA18	132671	broad.mit.edu	37	chr4	52938153	52938153	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagctcagagaataggCggtcagagccttggagcttg	11	7	16	7	1	2	3	2	0	0	3	2	6	2	5	1	4	3	2	1	4	2	3	rs146272260	by1000genomes	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:52938153C>A	ENST00000295213.4	+	6	963	c.589C>A	c.(589-591)Cgg>Agg	p.R197R	SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Silent_p.R165R	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	197					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGAGAATAGGCGGTCAGAGCC	0.527													7	38					8.12818e-05	0.000160275	1	0	A	52938153	C	A	52938153	2	1	210	1	0	0	0	0	0	0	0	1	15093	759	27	3		3	SPATA18	4	52938153	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	8760970	52938153	138216123	192	37428											
PDGFRA	5156	broad.mit.edu	37	chr4	55131137	55131137	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaaaaccgtgtataagtCaggggaaacgattgtggtca	13	11	11	6	2	3	0	2	0	1	0	3	2	3	1	1	3	2	1	1	3	5	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:55131137C>A	ENST00000257290.5	+	5	1011	c.680C>A	c.(679-681)tCa>tAa	p.S227*	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	227	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTGTATAAGTCAGGGGAAACG	0.433			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			26	100					2.44723e-14	5.81425e-14	1	0	A	55131137	C	A	55131137	4	1	210	1	0	0	0	0	0	1	0	0	11732	838	29	2	694	2	PDGFRA	4	55131137	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2192984	55131137	136023139	193	37429											
UGT2B11	10720	broad.mit.edu	37	chr4	70079865	70079865	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacataacaataggtatgtaGgaaggagggaaaatcagtcc	17	7	12	5	0	1	0	1	0	0	0	2	4	2	3	1	4	1	2	1	4	8	4	rs148942208	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:70079865G>T	ENST00000446444.1	-	1	584	c.576C>A	c.(574-576)tcC>tcA	p.S192S	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	192					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TAGGTATGTAGGAAGGAGGGA	0.393													15	65					0.00316338	0.00593685	1	0	T	70079865	G	T	70079865	2	4	210	1	0	0	0	0	0	0	0	1	17053	987	35	4		4	UGT2B11	4	70079865	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	14948728	70079865	121074411	194	37430											
MUC7	4589	broad.mit.edu	37	chr4	71347573	71347573	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatctactaaacagaattaTtgacgacatggtggagcaat	16	10	9	6	1	1	2	0	1	1	1	1	5	1	3	0	2	3	1	0	2	7	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:71347573T>C	ENST00000413702.1	+	4	1400	c.1112T>C	c.(1111-1113)aTt>aCt	p.I371T	MUC7_ENST00000456088.1_Missense_Mutation_p.I371T|MUC7_ENST00000304887.5_Missense_Mutation_p.I371T	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	371						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AACAGAATTATTGACGACATG	0.333													12	46					0	0	0	0	C	71347573	T	C	71347573	3	2	210	1	0	0	0	0	1	0	0	0	10051	1493	52	5	1118	5	MUC7	4	71347573	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	1267708	71347573	119806703	195	37431											
AMTN	401138	broad.mit.edu	37	chr4	71396868	71396868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaagccttccagcaggagGagcaggtgtaaatcctgcca	11	7	13	10	0	0	0	0	0	0	0	2	3	2	3	4	4	4	3	4	4	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:71396868G>T	ENST00000339336.4	+	8	600	c.470G>T	c.(469-471)gGa>gTa	p.G157V	AMTN_ENST00000504451.1_Missense_Mutation_p.G156V	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	157					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			CCAGCAGGAGGAGCAGGTGTA	0.607													11	32					4.68919e-08	1.00131e-07	1	0	T	71396868	G	T	71396868	3	4	210	1	0	0	0	0	1	0	0	0	590	1174	41	2	496	2	AMTN	4	71396868	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	49295	71396868	119757408	196	37432											
NPFFR2	10886	broad.mit.edu	37	chr4	72897759	72897759	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggccagcctggagcggaagCctggagtggagcaggcagtc	8	4	19	10	1	0	0	0	0	0	0	1	4	0	4	3	6	4	2	3	6	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:72897759C>G	ENST00000308744.6	+	1	239	c.141C>G	c.(139-141)agC>agG	p.S47R	NPFFR2_ENST00000344413.5_Missense_Mutation_p.S47R	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	47					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)			GGAGCGGAAGCCTGGAGTGGA	0.662													7	36					0	0	0	0	G	72897759	C	G	72897759	3	3	210	1	0	0	0	0	1	0	0	0	10648	738	26	4	143	4	NPFFR2	4	72897759	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1500891	72897759	118256517	197	37433											
ANKRD17	26057	broad.mit.edu	37	chr4	74043106	74043106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtacatacctgcagcttCtagtaaagcttccagtctag	12	11	8	10	0	2	1	0	0	2	1	3	1	3	1	2	0	5	5	2	0	6	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:74043106C>T	ENST00000358602.4	-	2	654	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ANKRD17_ENST00000330838.6_Missense_Mutation_p.E180K|ANKRD17_ENST00000509867.2_Missense_Mutation_p.E67K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	180					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTGCAGCTTCTAGTAAAGCT	0.398													7	73					0	0	0	0	T	74043106	C	T	74043106	3	4	210	1	0	0	0	0	1	0	0	0	646	922	32	2	7405	2	ANKRD17	4	74043106	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1145347	74043106	117111170	198	37434											
CXCL13	10563	broad.mit.edu	37	chr4	78528901	78528901	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaggtgtagatgtgtcCaagagagctcagtctttatc	9	13	12	7	0	2	3	1	1	1	2	4	4	3	3	1	1	1	3	1	1	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:78528901C>A	ENST00000286758.4	+	3	187	c.109C>A	c.(109-111)Caa>Aaa	p.Q37K		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	37					activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TAGATGTGTCCAAGAGAGCTC	0.388													17	70					1.01871e-10	2.29276e-10	1	0	A	78528901	C	A	78528901	3	1	210	1	0	0	0	0	1	0	0	0	4113	595	21	4	115	4	CXCL13	4	78528901	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4485795	78528901	112625375	199	37435											
FRAS1	80144	broad.mit.edu	37	chr4	79455626	79455626	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatacccattgcattccAgcagaccaaccgccctgtgc	9	8	7	17	1	0	2	0	1	0	1	1	2	1	2	6	0	5	2	6	0	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:79455626A>T	ENST00000264895.6	+	71	11389	c.10949A>T	c.(10948-10950)cAg>cTg	p.Q3650L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3645					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTGCATTCCAGCAGACCAAC	0.443													32	142					0	0	0	0	T	79455626	A	T	79455626	3	4	210	1	0	0	0	0	1	0	0	0	6089	188	7	5	11306	5	FRAS1	4	79455626	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	926725	79455626	111698650	200	37436											
WDFY3	23001	broad.mit.edu	37	chr4	85781681	85781681	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgcatcagtcctaaggCgttgtcttgtgggctgcact	6	12	14	9	1	2	0	1	0	1	0	3	1	3	0	1	3	2	4	1	3	1	3	rs138518540	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:85781681C>G	ENST00000322366.6	-	4	471	c.64G>C	c.(64-66)Gcc>Ccc	p.A22P	WDFY3_ENST00000295888.4_Missense_Mutation_p.A22P			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	22						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTCCTAAGGCGTTGTCTTGT	0.542													12	55					0	0	0	0	G	85781681	C	G	85781681	3	3	210	1	0	0	0	0	1	0	0	0	17366	768	27	3	10819	3	WDFY3	4	85781681	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	6326055	85781681	105372595	201	37437											
MMRN1	22915	broad.mit.edu	37	chr4	90857200	90857200	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattctattcagactttggTcaatgacaatcagagatata	14	14	7	6	0	4	4	3	2	1	2	4	5	4	4	0	1	0	0	0	1	5	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:90857200T>G	ENST00000394980.1	+	7	2688	c.2369T>G	c.(2368-2370)gTc>gGc	p.V790G	MMRN1_ENST00000508372.1_Missense_Mutation_p.V532G|MMRN1_ENST00000264790.2_Missense_Mutation_p.V790G|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	790					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGACTTTGGTCAATGACAAT	0.378													7	58					0	0	0	0	G	90857200	T	G	90857200	3	3	210	1	0	0	0	0	1	0	0	0	9740	1667	58	5	2391	5	MMRN1	4	90857200	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	5075519	90857200	100297076	202	37438											
ATOH1	474	broad.mit.edu	37	chr4	94750474	94750474	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagctgtgcaagctgaaaGgcggggtggtggtagacgag	11	6	18	6	2	0	2	0	1	0	1	0	3	0	2	0	5	4	4	0	5	4	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:94750474G>C	ENST00000306011.3	+	1	433	c.397G>C	c.(397-399)Ggc>Cgc	p.G133R		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	133					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CAAGCTGAAAGGCGGGGTGGT	0.672													3	44					0	0	0	0	C	94750474	G	C	94750474	3	2	210	1	0	0	0	0	1	0	0	0	1116	1000	35	4	399	4	ATOH1	4	94750474	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3893274	94750474	96403802	203	37439											
HPGDS	27306	broad.mit.edu	37	chr4	95223375	95223375	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggcgcattatacgtgagCagctcattgaacatctgctc	10	11	10	10	2	2	3	1	3	1	0	3	3	2	3	0	1	5	4	0	1	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:95223375C>T	ENST00000295256.5	-	5	447	c.357G>A	c.(355-357)ctG>ctA	p.L119L		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	119	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TATACGTGAGCAGCTCATTGA	0.378													45	163					0	0	0	0	T	95223375	C	T	95223375	2	4	210	1	0	0	0	0	0	0	0	1	7385	697	25	4		4	HPGDS	4	95223375	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	472901	95223375	95930901	204	37440											
UNC5C	8633	broad.mit.edu	37	chr4	96256640	96256640	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttacacttgaaatagatctgGgtggcagggcttgctttaca	10	13	11	7	0	1	2	0	1	1	1	1	2	1	2	0	3	3	3	0	3	4	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:96256640G>T	ENST00000453304.1	-	2	615	c.267C>A	c.(265-267)acC>acA	p.T89T	UNC5C_ENST00000504962.1_Silent_p.T89T|UNC5C_ENST00000506749.1_Silent_p.T89T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	89	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AATAGATCTGGGTGGCAGGGC	0.428													20	46					1.50039e-11	3.41636e-11	1	0	T	96256640	G	T	96256640	2	4	210	1	0	0	0	0	0	0	0	1	17089	1219	43	4		4	UNC5C	4	96256640	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1033265	96256640	94897636	205	37441											
TET2	54790	broad.mit.edu	37	chr4	106156786	106156786	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagcactatctgaaaccaGgatggattgaattgaaggcc	14	8	10	9	0	1	3	0	3	1	0	1	5	1	5	2	3	2	1	2	3	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:106156786G>T	ENST00000540549.1	+	3	2547	c.1687G>T	c.(1687-1689)Gga>Tga	p.G563*	TET2_ENST00000413648.2_Nonsense_Mutation_p.G563*|TET2_ENST00000305737.2_Nonsense_Mutation_p.G563*|TET2_ENST00000513237.1_Nonsense_Mutation_p.G584*|TET2_ENST00000545826.1_Nonsense_Mutation_p.G563*|TET2_ENST00000394764.1_Nonsense_Mutation_p.G563*|TET2_ENST00000380013.4_Nonsense_Mutation_p.G563*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	563					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCTGAAACCAGGATGGATTGA	0.463			"Mis N, F"		MDS								21	73					9.95505e-16	2.39441e-15	1	0	T	106156786	G	T	106156786	4	4	210	1	0	0	0	0	0	1	0	0	15864	1001	35	4	1689	4	TET2	4	106156786	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	9900146	106156786	84997490	206	37442											
FABP2	2169	broad.mit.edu	37	chr4	120240198	120240198	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgccaagaataatgctcAatcctttttaaagatccttt	12	14	6	9	1	1	2	1	0	0	2	3	2	3	2	3	0	2	1	3	0	6	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:120240198A>T	ENST00000274024.3	-	4	684	c.397T>A	c.(397-399)Tga>Aga	p.*133R		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	0							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						AATAATGCTCAATCCTTTTTA	0.328													14	74					0	0	0	0	T	120240198	A	T	120240198	4	4	210	1	0	0	0	0	0	0	0	0	5398	143	5	5	5	5	FABP2	4	120240198	Nonstop_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	14083412	120240198	70914078	207	37443											
EXOSC9	5393	broad.mit.edu	37	chr4	122734498	122734498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggatgtagaagaaaaagcaGaagaaatcattgctgaagca	19	6	11	5	1	1	5	1	1	0	4	1	6	1	6	0	1	3	4	0	1	7	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:122734498G>A	ENST00000512454.1	+	8	1105	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	EXOSC9_ENST00000379663.3_Missense_Mutation_p.E313K|EXOSC9_ENST00000243498.5_Missense_Mutation_p.E313K|EXOSC9_ENST00000509980.1_3'UTR			Q06265	EXOS9_HUMAN	exosome component 9	313					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						AGAAAAAGCAGAAGAAATCAT	0.363													10	111					0	0	0	0	A	122734498	G	A	122734498	3	1	210	1	0	0	0	0	1	0	0	0	5359	943	33	2	971	2	EXOSC9	4	122734498	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2494300	122734498	68419778	208	37444											
ANKRD50	57182	broad.mit.edu	37	chr4	125593540	125593540	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaaagcatccactgctttTaatgtgcagttgatttaaca	14	13	7	7	0	0	2	0	1	0	1	1	2	1	2	1	0	4	4	1	0	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:125593540T>C	ENST00000504087.1	-	4	1929	c.892A>G	c.(892-894)Aaa>Gaa	p.K298E	ANKRD50_ENST00000515641.1_Missense_Mutation_p.K119E	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	298										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CCACTGCTTTTAATGTGCAGT	0.363													8	28					0	0	0	0	C	125593540	T	C	125593540	3	2	210	1	0	0	0	0	1	0	0	0	676	1763	61	5	3401	5	ANKRD50	4	125593540	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	2859042	125593540	65560736	209	37445											
FAT4	79633	broad.mit.edu	37	chr4	126242430	126242430	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaattgaccatcattcttCagggccttgatggacctgtt	8	14	9	10	0	3	3	2	3	1	0	3	4	3	4	3	2	0	1	3	2	1	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:126242430C>G	ENST00000394329.3	+	1	4877	c.4864C>G	c.(4864-4866)Cag>Gag	p.Q1622E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1622	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATCATTCTTCAGGGCCTTGA	0.428													16	106					0	0	0	0	G	126242430	C	G	126242430	3	3	210	1	0	0	0	0	1	0	0	0	5737	827	29	2	4866	2	FAT4	4	126242430	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	648890	126242430	64911846	210	37446											
SLC25A31	83447	broad.mit.edu	37	chr4	128685492	128685492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctagattttgcccgaacccGattaggtgtcgatattggaa	10	13	10	8	3	1	1	0	0	1	1	2	5	1	2	2	2	2	0	2	2	5	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:128685492G>A	ENST00000281154.4	+	3	623	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	152					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GCCCGAACCCGATTAGGTGTC	0.398													7	40					0	0	0	0	A	128685492	G	A	128685492	3	1	210	1	0	0	0	0	1	0	0	0	14583	1058	37	1	465	1	SLC25A31	4	128685492	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2443062	128685492	62468784	211	37447											
ZNF827	152485	broad.mit.edu	37	chr4	146806946	146806946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagctttgtgtggttggcgGgcctgtcggcagcattcaaa	6	12	14	9	2	2	0	2	0	0	0	3	0	2	0	1	4	2	4	1	4	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:146806946G>A	ENST00000508784.1	-	4	1858	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L	ZNF827_ENST00000379448.4_Missense_Mutation_p.P544L|ZNF827_ENST00000513320.1_Missense_Mutation_p.P194L			Q17R98	ZN827_HUMAN	zinc finger protein 827	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GTGGTTGGCGGGCCTGTCGGC	0.557													8	56					0	0	0	0	A	146806946	G	A	146806946	3	1	210	1	0	0	0	0	1	0	0	0	18273	1232	43	4	1642	4	ZNF827	4	146806946	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	18121454	146806946	44347330	212	37448											
NR3C2	4306	broad.mit.edu	37	chr4	149357050	149357050	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgccggactggaaagCgtggatctgttattagtgtt	7	13	14	7	2	1	0	0	0	1	0	1	3	1	3	1	4	2	3	1	4	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:149357050C>A	ENST00000355292.3	-	2	1325	c.963G>T	c.(961-963)acG>acT	p.T321T	NR3C2_ENST00000512865.1_Silent_p.T321T|NR3C2_ENST00000511528.1_Silent_p.T321T|NR3C2_ENST00000342437.4_Silent_p.T321T|NR3C2_ENST00000358102.3_Silent_p.T321T|NR3C2_ENST00000344721.4_Silent_p.T321T			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	321	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GACTGGAAAGCGTGGATCTGT	0.483													16	75					0.000422831	0.000820818	1	0	A	149357050	C	A	149357050	2	1	210	1	0	0	0	0	0	0	0	1	10702	755	27	3		3	NR3C2	4	149357050	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2550104	149357050	41797226	213	37449											
DCLK2	166614	broad.mit.edu	37	chr4	151000270	151000270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggggcccccagctccTccgggggcagcagcagctcg	6	3	17	15	2	0	1	0	0	0	1	3	2	2	1	4	5	4	5	4	5	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:151000270T>C	ENST00000296550.7	+	1	845	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	DCLK2_ENST00000506325.1_Missense_Mutation_p.S31P|DCLK2_ENST00000302176.8_Missense_Mutation_p.S31P	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	31					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCCCAGCTCCTCCGGGGGCAG	0.706													9	13					0	0	0	0	C	151000270	T	C	151000270	3	2	210	1	0	0	0	0	1	0	0	0	4324	1551	54	5	93	5	DCLK2	4	151000270	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	1643220	151000270	40154006	214	37450											
DCHS2	54798	broad.mit.edu	37	chr4	155236942	155236942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctggtaacaaactcccCtggattttggttttctttca	9	15	6	11	0	2	0	1	0	1	0	3	1	3	1	3	3	3	2	3	3	3	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:155236942C>A	ENST00000357232.3	-	15	3852	c.3853G>T	c.(3853-3855)Ggg>Tgg	p.G1285W		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1285	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAAACTCCCCTGGATTTTGG	0.368													7	75					1.06961e-07	2.27017e-07	1	0	A	155236942	C	A	155236942	3	1	210	1	0	0	0	0	1	0	0	0	4320	681	24	4	4941	4	DCHS2	4	155236942	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4236672	155236942	35917334	215	37451											
MAP9	79884	broad.mit.edu	37	chr4	156289867	156289867	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttctttatcttctagTccatccttctcctccatgtg	5	18	5	13	0	4	0	0	0	4	0	8	0	7	0	4	0	0	2	4	0	2	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:156289867T>A	ENST00000311277.4	-	5	842	c.579A>T	c.(577-579)ggA>ggT	p.G193G	MAP9_ENST00000379248.2_Silent_p.G120G|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Silent_p.G193G	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	193					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TATCTTCTAGTCCATCCTTCT	0.428													15	78					0	0	0	0	A	156289867	T	A	156289867	2	1	210	1	0	0	0	0	0	0	0	1	9339	1654	58	5		5	MAP9	4	156289867	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	1052925	156289867	34864409	216	37452											
ZFP42	132625	broad.mit.edu	37	chr4	188924519	188924519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagaatatgacagtctgagCgcaatcgcttgtcctcagag	13	9	10	9	2	2	4	1	2	1	2	4	4	3	4	1	0	1	2	1	0	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:188924519C>A	ENST00000326866.4	+	4	966	c.558C>A	c.(556-558)agC>agA	p.S186R	ZFP42_ENST00000509524.1_Missense_Mutation_p.S186R	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	186					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ACAGTCTGAGCGCAATCGCTT	0.493													31	98					2.09667e-21	5.14903e-21	1	0	A	188924519	C	A	188924519	3	1	210	1	0	0	0	0	1	0	0	0	17745	767	27	3	560	3	ZFP42	4	188924519	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	32634652	188924519	2229757	217	37453											
TRIML2	205860	broad.mit.edu	37	chr4	189018247	189018247	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaacatgctgctgagtcctCttatgtggcataaactcagg	10	12	10	9	0	2	2	1	2	1	0	3	2	3	2	1	2	4	3	1	2	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:189018247C>G	ENST00000512729.1	-	6	937	c.563G>C	c.(562-564)aGa>aCa	p.R188T	TRIML2_ENST00000326754.3_Missense_Mutation_p.R213T	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	188	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCTGAGTCCTCTTATGTGGCA	0.493													12	112					0	0	0	0	G	189018247	C	G	189018247	3	3	210	1	0	0	0	0	1	0	0	0	16646	913	32	2	608	2	TRIML2	4	189018247	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	93728	189018247	2136029	218	37454											
ADAMTS16	170690	broad.mit.edu	37	chr5	5237159	5237159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaaataaagtcaaagatGggactccatgctcggaggat	14	9	11	7	1	2	1	2	0	0	1	4	4	3	4	1	3	1	1	1	3	4	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:5237159G>T	ENST00000274181.7	+	14	2239	c.2101G>T	c.(2101-2103)Ggg>Tgg	p.G701W	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	701	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G701W(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGTCAAAGATGGGACTCCATG	0.373													16	55					4.14922e-12	9.57217e-12	1	0	T	5237159	G	T	5237159	3	4	210	1	0	0	0	0	1	0	0	0	261	1348	47	4	2155	4	ADAMTS16	5	5237159	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08		5237159	175678101	219	37455											
KIAA0947	23379	broad.mit.edu	37	chr5	5462953	5462953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactttttctgagctggataGactttccacatcagaggttg	9	15	9	8	0	2	3	1	1	1	2	3	4	3	4	1	2	2	2	1	2	2	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:5462953G>A	ENST00000296564.7	+	13	3728	c.3506G>A	c.(3505-3507)aGa>aAa	p.R1169K		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1169										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGCTGGATAGACTTTCCACA	0.428													6	14					0	0	0	0	A	5462953	G	A	5462953	3	1	210	1	0	0	0	0	1	0	0	0	8253	942	33	2	3556	2	KIAA0947	5	5462953	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	225794	5462953	175452307	220	37456											
NSUN2	54888	broad.mit.edu	37	chr5	6611186	6611186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgtaaaccactgcccatCtttcgtcattacctgcagaa	10	12	6	13	1	3	1	1	0	2	1	4	1	3	1	3	0	4	2	3	0	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:6611186C>T	ENST00000264670.6	-	11	1419	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	NSUN2_ENST00000506139.1_Missense_Mutation_p.D335N|NSUN2_ENST00000539938.1_Missense_Mutation_p.D134N	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	370						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CACTGCCCATCTTTCGTCATT	0.502													20	80					0	0	0	0	T	6611186	C	T	6611186	3	4	210	1	0	0	0	0	1	0	0	0	10749	913	32	2	1231	2	NSUN2	5	6611186	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1148233	6611186	174304074	221	37457											
CTNND2	1501	broad.mit.edu	37	chr5	11018126	11018126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatctcggtactgccacatgCtgttgaggacctgagatgca	9	10	12	10	1	1	2	0	2	1	1	2	5	1	3	2	2	4	4	2	2	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:11018126C>T	ENST00000304623.8	-	18	3233	c.3044G>A	c.(3043-3045)aGc>aAc	p.S1015N	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.S678N|CTNND2_ENST00000458100.2_Missense_Mutation_p.S582N|CTNND2_ENST00000511377.1_Missense_Mutation_p.S924N|CTNND2_ENST00000359640.2_Missense_Mutation_p.S957N	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1015					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGCCACATGCTGTTGAGGAC	0.517													7	82					0	0	0	0	T	11018126	C	T	11018126	3	4	210	1	0	0	0	0	1	0	0	0	4052	797	28	4	653	4	CTNND2	5	11018126	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4406940	11018126	169897134	222	37458											
CTNND2	1501	broad.mit.edu	37	chr5	11364946	11364946	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgttctggggactgcagggCccgcaactctgggcccaggt	5	8	16	12	1	2	0	0	0	2	0	2	1	2	1	2	5	2	3	2	5	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:11364946C>G	ENST00000304623.8	-	8	1423	c.1234G>C	c.(1234-1236)Gcc>Ccc	p.A412P	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.A75P|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.A321P|CTNND2_ENST00000359640.2_Missense_Mutation_p.A412P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	412					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GACTGCAGGGCCCGCAACTCT	0.582													16	86					0	0	0	0	G	11364946	C	G	11364946	3	3	210	1	0	0	0	0	1	0	0	0	4052	739	26	4	2503	4	CTNND2	5	11364946	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	346820	11364946	169550314	223	37459											
NIPBL	25836	broad.mit.edu	37	chr5	37003451	37003451	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccactttgttaaatcatgTaagtttaagatccatactgt	12	17	5	7	0	1	1	1	0	0	1	3	1	3	1	2	0	1	3	2	0	5	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:37003451T>C	ENST00000282516.8	+	16	4354		c.e16+2		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTAAATCATGTAAGTTTAAGA	0.318													15	98					0	0	0	0	C	37003451	T	C	37003451	5	2	210	1	0	0	0	0	0	0	1	0	10498	1652	57	5	3915	5	NIPBL	5	37003451	Splice_Site	SNP	T	TCGA-CR-7388-01A-11D-2012-08	25638505	37003451	143911809	224	37460											
C9	735	broad.mit.edu	37	chr5	39341354	39341354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgaaaagtctccgcagtCattgtcaccattacaccgaa	13	10	6	12	2	4	1	2	1	2	0	5	2	4	1	3	0	1	1	3	0	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:39341354C>T	ENST00000263408.4	-	4	465	c.370G>A	c.(370-372)Gac>Aac	p.D124N	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	124	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCTCCGCAGTCATTGTCACCA	0.463													10	74					0	0	0	0	T	39341354	C	T	39341354	3	4	210	1	0	0	0	0	1	0	0	0	2468	826	29	2	1341	2	C9	5	39341354	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2337903	39341354	141573906	225	37461											
C5orf51	285636	broad.mit.edu	37	chr5	41904501	41904501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtctctagtgtggtgagacGagtggaagagctcggggatc	9	9	17	6	2	1	2	0	1	1	2	4	6	1	4	0	4	1	1	0	4	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:41904501G>A	ENST00000381647.2	+	1	51	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	C5orf51_ENST00000505931.2_Intron	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	11										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTGGTGAGACGAGTGGAAGAG	0.662													6	31					0	0	0	0	A	41904501	G	A	41904501	3	1	210	1	0	0	0	0	1	0	0	0	2329	1058	37	1	34	1	C5orf51	5	41904501	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2563147	41904501	139010759	226	37462											
HTR1A	3350	broad.mit.edu	37	chr5	63256751	63256751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagccttgctctccacgcCcagcctccagttcctgctcc	4	9	6	22	1	1	0	0	0	1	0	5	0	4	0	8	0	4	3	8	0	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:63256751C>G	ENST00000323865.3	-	1	1029	c.796G>C	c.(796-798)Ggc>Cgc	p.G266R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	266					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTCTCCACGCCCAGCCTCCAG	0.672													9	94					0	0	0	0	G	63256751	C	G	63256751	3	3	210	1	0	0	0	0	1	0	0	0	7489	623	22	4	475	4	HTR1A	5	63256751	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	21352250	63256751	117658509	227	37463											
MAP1B	4131	broad.mit.edu	37	chr5	71482446	71482446	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctttatttcaggtgcgCttaatgatcactgatgctgc	7	16	10	8	1	2	2	2	2	0	0	2	2	2	2	0	1	4	3	0	1	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:71482446C>A	ENST00000296755.7	+	4	673	c.375C>A	c.(373-375)cgC>cgA	p.R125R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	125						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTCAGGTGCGCTTAATGATCA	0.552													15	92					0.000422831	0.000820818	1	0	A	71482446	C	A	71482446	2	1	210	1	0	0	0	0	0	0	0	1	9297	784	28	4		4	MAP1B	5	71482446	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	8225695	71482446	109432814	228	37464											
CMYA5	202333	broad.mit.edu	37	chr5	79030276	79030276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggatgaaaactggatgttGggaaagccagaaaatgtggc	16	7	14	4	0	0	2	0	1	0	1	0	5	0	5	1	4	2	1	1	4	6	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:79030276G>T	ENST00000446378.2	+	2	5719	c.5688G>T	c.(5686-5688)ttG>ttT	p.L1896F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1896						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACTGGATGTTGGGAAAGCCAG	0.433													11	52					4.68919e-08	1.00131e-07	1	0	T	79030276	G	T	79030276	3	4	210	1	0	0	0	0	1	0	0	0	3620	1339	47	4	5694	4	CMYA5	5	79030276	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	7547830	79030276	101884984	229	37465											
DHFR	1719	broad.mit.edu	37	chr5	79945217	79945217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtacttacttgagttctCtgctgagaactaaattaatt	13	15	7	6	0	1	2	0	2	1	1	2	3	1	2	0	1	4	3	0	1	7	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:79945217C>T	ENST00000439211.2	-	3	726	c.233G>A	c.(232-234)aGa>aAa	p.R78K	DHFR_ENST00000504396.1_Missense_Mutation_p.R26K|DHFR_ENST00000511032.1_Missense_Mutation_p.R78K|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000505337.1_Missense_Mutation_p.R78K	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	78	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	CTTGAGTTCTCTGCTGAGAAC	0.343													9	34					0	0	0	0	T	79945217	C	T	79945217	3	4	210	1	0	0	0	0	1	0	0	0	4518	913	32	2	346	2	DHFR	5	79945217	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	914941	79945217	100970043	230	37466											
RASGRF2	5924	broad.mit.edu	37	chr5	80376426	80376426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttgcagctgatctgtttGatattttgctccccatgctg	5	18	8	10	0	2	2	0	2	2	0	3	2	3	2	2	0	4	5	2	0	1	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:80376426G>C	ENST00000265080.4	+	7	1046	c.979G>C	c.(979-981)Gat>Cat	p.D327H	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	327	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGATCTGTTTGATATTTTGCT	0.433													11	64					0	0	0	0	C	80376426	G	C	80376426	3	2	210	1	0	0	0	0	1	0	0	0	13155	1290	45	2	1005	2	RASGRF2	5	80376426	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	431209	80376426	100538834	231	37467											
GPR98	84059	broad.mit.edu	37	chr5	90073767	90073767	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggggaggtcacagtgttctgGaggatattccctccttccgt	6	12	13	10	1	2	0	1	0	1	0	5	3	5	3	3	5	0	1	3	5	1	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:90073767G>C	ENST00000405460.2	+	62	12669	c.12573G>C	c.(12571-12573)tgG>tgC	p.W4191C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4191					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGTGTTCTGGAGGATATTCC	0.428													6	17					0	0	0	0	C	90073767	G	C	90073767	3	2	210	1	0	0	0	0	1	0	0	0	6771	1183	41	2	12819	2	GPR98	5	90073767	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	9697341	90073767	90841493	232	37468											
TTC37	9652	broad.mit.edu	37	chr5	94842665	94842665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgccgtaatttcttattGcaacattgtaagtatcttgg	10	17	7	7	1	3	0	0	0	3	0	3	0	3	0	1	1	3	4	1	1	5	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:94842665G>A	ENST00000358746.2	-	30	3363	c.3065C>T	c.(3064-3066)gCa>gTa	p.A1022V	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1022							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATTTCTTATTGCAACATTGTA	0.323													10	56					0	0	0	0	A	94842665	G	A	94842665	3	1	210	1	0	0	0	0	1	0	0	0	16801	1319	46	4	1685	4	TTC37	5	94842665	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	4768898	94842665	86072595	233	37469											
DMXL1	1657	broad.mit.edu	37	chr5	118469789	118469789	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttttctggaggagtttctGagcttgcccggattaattct	6	17	10	8	1	3	1	0	1	3	0	3	4	3	4	1	3	2	2	1	3	1	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:118469789G>C	ENST00000311085.8	+	12	2250	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.E724Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	724										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGGAGTTTCTGAGCTTGCCCG	0.463													15	105					0	0	0	0	C	118469789	G	C	118469789	3	2	210	1	0	0	0	0	1	0	0	0	4631	1291	45	2	2216	2	DMXL1	5	118469789	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	23627124	118469789	62445471	234	37470											
FBN2	2201	broad.mit.edu	37	chr5	127647623	127647623	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgaagccttcacctccGggacacagggtgtaatattc	9	10	11	11	1	2	1	1	1	1	0	4	2	3	2	3	3	1	1	3	3	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:127647623G>C	ENST00000508053.1	-	44	5876	c.4902C>G	c.(4900-4902)ccC>ccG	p.P1634P	FBN2_ENST00000262464.4_Silent_p.P1634P			P35556	FBN2_HUMAN	fibrillin 2	1634					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTCACCTCCGGGACACAGGG	0.408													7	30					0	0	0	0	C	127647623	G	C	127647623	2	2	210	1	0	0	0	0	0	0	0	1	5748	1103	39	3		3	FBN2	5	127647623	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	9177834	127647623	53267637	235	37471											
FBN2	2201	broad.mit.edu	37	chr5	127648347	127648347	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctattgacaggggggcatgTctcacaggggtttccccagg	7	9	15	10	0	1	1	1	1	1	0	3	1	2	1	2	6	0	3	2	6	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:127648347T>A	ENST00000508053.1	-	43	5832	c.4858A>T	c.(4858-4860)Aca>Tca	p.T1620S	FBN2_ENST00000262464.4_Missense_Mutation_p.T1620S			P35556	FBN2_HUMAN	fibrillin 2	1620	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGGGGCATGTCTCACAGGGG	0.512													51	211					0	0	0	0	A	127648347	T	A	127648347	3	1	210	1	0	0	0	0	1	0	0	0	5748	1667	58	5	3996	5	FBN2	5	127648347	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	724	127648347	53266913	236	37472											
FBN2	2201	broad.mit.edu	37	chr5	127686626	127686626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcacagcattcagatttcaGagtggctccattaatattca	12	12	8	9	0	3	2	3	0	0	2	4	2	4	2	1	2	1	3	1	2	2	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:127686626G>A	ENST00000508053.1	-	27	3720	c.2746C>T	c.(2746-2748)Ctg>Ttg	p.L916L	FBN2_ENST00000262464.4_Silent_p.L916L|FBN2_ENST00000508989.1_Silent_p.L883L			P35556	FBN2_HUMAN	fibrillin 2	916	TB 4.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCAGATTTCAGAGTGGCTCCA	0.567													6	68					0	0	0	0	A	127686626	G	A	127686626	2	1	210	1	0	0	0	0	0	0	0	1	5748	933	33	2		2	FBN2	5	127686626	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	38279	127686626	53228634	237	37473											
ADAMTS19	171019	broad.mit.edu	37	chr5	129039981	129039981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcatcggaccgttagatgtaCcaacccaagaaagaagtgtg	14	8	10	9	2	1	3	1	0	0	3	2	4	1	4	3	1	2	2	3	1	6	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:129039981C>T	ENST00000274487.4	+	21	3336	c.3191C>T	c.(3190-3192)aCc>aTc	p.T1064I	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1064	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTTAGATGTACCAACCCAAGA	0.448													9	102					0	0	0	0	T	129039981	C	T	129039981	3	4	210	1	0	0	0	0	1	0	0	0	264	507	18	4	3273	4	ADAMTS19	5	129039981	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1353355	129039981	51875279	238	37474											
CHSY3	337876	broad.mit.edu	37	chr5	129520705	129520705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaaaagaaagtacacattCtcgttcctctcatcggaagg	14	10	8	9	2	2	2	1	1	2	1	6	3	3	3	1	2	1	2	1	2	5	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:129520705C>G	ENST00000305031.4	+	3	2228	c.1870C>G	c.(1870-1872)Ctc>Gtc	p.L624V		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	624						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGTACACATTCTCGTTCCTCT	0.348													13	46					0	0	0	0	G	129520705	C	G	129520705	3	3	210	1	0	0	0	0	1	0	0	0	3442	913	32	2	1880	2	CHSY3	5	129520705	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	480724	129520705	51394555	239	37475											
IL5	3567	broad.mit.edu	37	chr5	131879137	131879137	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacacgtaggcagctccaaGagctagcaaactcaaatgca	16	6	8	11	1	1	1	1	0	0	1	2	1	2	1	1	1	6	6	1	1	6	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:131879137G>C	ENST00000231454.1	-	1	77	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5 (colony-stimulating factor, eosinophil)	12					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	GCAGCTCCAAGAGCTAGCAAA	0.488													6	94					0	0	0	0	C	131879137	G	C	131879137	3	2	210	1	0	0	0	0	1	0	0	0	7752	942	33	2	386	2	IL5	5	131879137	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2358432	131879137	49036123	240	37476											
RAD50	10111	broad.mit.edu	37	chr5	131973799	131973799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatacatagaaatacggtctGatgccgatgaaaatgtatca	17	10	8	6	2	2	3	1	2	1	1	2	4	2	3	1	1	3	1	1	1	8	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:131973799G>A	ENST00000378823.3	+	23	3903	c.3085G>A	c.(3085-3087)Gat>Aat	p.D1029N	AC004041.2_ENST00000417516.1_RNA|AC004041.2_ENST00000457489.1_RNA|RAD50_ENST00000265335.6_Missense_Mutation_p.D1168N|AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000435042.1_RNA	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1168					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATACGGTCTGATGCCGATGA	0.398								Homologous recombination					9	46					0	0	0	0	A	131973799	G	A	131973799	3	1	210	1	0	0	0	0	1	0	0	0	13066	1290	45	2	3592	2	RAD50	5	131973799	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	94662	131973799	48941461	241	37477											
DDX46	9879	broad.mit.edu	37	chr5	134143458	134143458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattgatcaatatgacagaGatagcatcataaatgacttt	16	12	7	6	0	2	4	2	3	0	1	2	5	2	4	0	0	1	2	0	0	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:134143458G>A	ENST00000452510.2	+	16	2133	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	DDX46_ENST00000354283.4_Missense_Mutation_p.D659N	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	659	Helicase C-terminal.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATATGACAGAGATAGCATCAT	0.373													11	46					0	0	0	0	A	134143458	G	A	134143458	3	1	210	1	0	0	0	0	1	0	0	0	4396	942	33	2	2037	2	DDX46	5	134143458	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2169659	134143458	46771802	242	37478											
PSD2	84249	broad.mit.edu	37	chr5	139189229	139189229	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaggacccagatgtggccttCcatggcctcagccttggcct	7	9	11	14	0	1	1	1	0	0	1	2	2	2	2	6	4	1	0	6	4	1	2	rs34206173	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:139189229C>G	ENST00000274710.3	+	2	409	c.204C>G	c.(202-204)ttC>ttG	p.F68L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	68					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGGCCTTCCATGGCCTCA	0.637													12	67					0	0	0	0	G	139189229	C	G	139189229	3	3	210	1	0	0	0	0	1	0	0	0	12726	854	30	2	206	2	PSD2	5	139189229	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	5045771	139189229	41726031	243	37479											
PCDHA7	56141	broad.mit.edu	37	chr5	140215588	140215588	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgagcgcgcgcgatgcGggcgtgccgcctctgggcag	4	5	19	13	7	1	1	0	1	1	0	1	2	1	1	2	3	3	1	2	3	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140215588G>C	ENST00000525929.1	+	1	1620	c.1620G>C	c.(1618-1620)gcG>gcC	p.A540A	PCDHA7_ENST00000378125.3_Silent_p.A540A|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGATGCGGGCGTGCCGC	0.682													36	155					0	0	0	0	C	140215588	G	C	140215588	2	2	210	1	0	0	0	0	0	0	0	1	11600	1103	39	3		3	PCDHA7	5	140215588	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1026359	140215588	40699672	244	37480											
PCDHB5	26167	broad.mit.edu	37	chr5	140516518	140516518	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccacacctgcgcctcgcctCcctggtctccatcaacgcgg	5	7	8	21	4	2	0	1	0	1	0	5	0	3	0	6	2	2	0	6	2	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140516518C>G	ENST00000231134.5	+	1	1719	c.1502C>G	c.(1501-1503)tCc>tGc	p.S501C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		501	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCTCGCCTCCCTGGTCTCC	0.657													34	131					0	0	0	0	G	140516518	C	G	140516518	3	3	210	1	0	0	0	0	1	0	0	0	11616	855	30	2	1504	2	PCDHB5	5	140516518	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	300930	140516518	40398742	245	37481											
PCDHB6	56130	broad.mit.edu	37	chr5	140531479	140531479	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgaggcgctggtgcgcttGctggtgctggacgccaacga	6	7	17	11	5	0	0	0	0	0	0	0	3	0	1	1	4	5	4	1	4	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140531479G>C	ENST00000231136.1	+	1	1641	c.1641G>C	c.(1639-1641)ttG>ttC	p.L547F	PCDHB6_ENST00000543635.1_Missense_Mutation_p.L411F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		547	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCGCTTGCTGGTGCTGG	0.706													27	93					0	0	0	0	C	140531479	G	C	140531479	3	2	210	1	0	0	0	0	1	0	0	0	11617	1310	46	4	1643	4	PCDHB6	5	140531479	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	14961	140531479	40383781	246	37482											
PCDHB7	56129	broad.mit.edu	37	chr5	140554222	140554222	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggccagaacgcctggctGtcgtaccagctgctcaaggc	7	7	13	14	3	1	1	1	0	0	1	3	1	1	1	3	3	4	4	3	3	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140554222G>T	ENST00000231137.3	+	1	1980	c.1806G>T	c.(1804-1806)ctG>ctT	p.L602L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		602	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCCTGGCTGTCGTACCAGC	0.726													17	87					0.00121646	0.00232282	1	0	T	140554222	G	T	140554222	2	4	210	1	0	0	0	0	0	0	0	1	11618	1364	48	4		4	PCDHB7	5	140554222	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	22743	140554222	40361038	247	37483											
PCDHB12	56124	broad.mit.edu	37	chr5	140590115	140590115	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctttgagcagcgaggcgCtggtgcgcgtgctggtgctg	3	9	19	10	5	0	1	0	1	0	0	0	2	0	1	0	4	5	5	0	4	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140590115C>A	ENST00000239450.2	+	1	1825	c.1636C>A	c.(1636-1638)Ctg>Atg	p.L546M	PCDHB12_ENST00000541609.1_Missense_Mutation_p.L209M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		546	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L546M(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCGAGGCGCTGGTGCGCGT	0.697													19	76					0.00121646	0.00232282	1	0	A	140590115	C	A	140590115	3	1	210	1	0	0	0	0	1	0	0	0	11608	796	28	4	1638	4	PCDHB12	5	140590115	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	35893	140590115	40325145	248	37484											
PCDHGB3	56102	broad.mit.edu	37	chr5	140752193	140752193	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagttctccccacctacagCgaaaggactttgccttattc	9	11	8	13	1	1	0	0	0	1	0	3	3	1	2	4	2	3	1	4	2	3	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140752193C>A	ENST00000576222.1	+	1	2363	c.2232C>A	c.(2230-2232)agC>agA	p.S744R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTACAGCGAAAGGACTT	0.512													7	59					0.00307968	0.00578596	1	0	A	140752193	C	A	140752193	3	1	210	1	0	0	0	0	1	0	0	0	11635	767	27	3	2234	3	PCDHGB3	5	140752193	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	162078	140752193	40163067	249	37485											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755150	140755150	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaccctccagggggcgccCctgtcctcctacgtgtccat	5	8	10	18	2	0	0	0	0	0	0	4	1	4	0	7	2	1	0	7	2	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140755150C>A	ENST00000517434.1	+	1	1500	c.1500C>A	c.(1498-1500)ccC>ccA	p.P500P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGGGCGCCCCTGTCCTCCT	0.592													26	141					3.73148e-12	8.61981e-12	1	0	A	140755150	C	A	140755150	2	1	210	1	0	0	0	0	0	0	0	1	11629	610	22	4		4	PCDHGA6	5	140755150	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2957	140755150	40160110	250	37486											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764245	140764245	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgaccaaggtggtggcGgtggacaaagattcaggcca	10	7	16	8	1	1	2	1	1	0	1	1	3	1	3	2	7	0	0	2	7	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140764245G>C	ENST00000518325.1	+	1	1779	c.1779G>C	c.(1777-1779)gcG>gcC	p.A593A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGTGGCGGTGGACAAAG	0.637													23	104					0	0	0	0	C	140764245	G	C	140764245	2	2	210	1	0	0	0	0	0	0	0	1	11630	1103	39	3		3	PCDHGA7	5	140764245	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	9095	140764245	40151015	251	37487											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764339	140764339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggttgggctgtacacgggcGaggtgcgcacggctcgggcc	4	6	19	12	6	0	0	0	0	0	0	1	1	0	0	1	6	2	5	1	6	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140764339G>A	ENST00000518325.1	+	1	1873	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACACGGGCGAGGTGCGCAC	0.647													8	63					0	0	0	0	A	140764339	G	A	140764339	3	1	210	1	0	0	0	0	1	0	0	0	11630	1059	37	1	1875	1	PCDHGA7	5	140764339	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	94	140764339	40150921	252	37488											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798050	140798050	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagaaacgcagagcgctcaCcacttggtactgaccgcctt	10	7	10	14	4	1	3	1	1	0	2	1	4	1	3	3	1	3	3	3	1	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140798050C>G	ENST00000398594.2	+	1	624	c.624C>G	c.(622-624)caC>caG	p.H208Q	PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCGCTCACCACTTGGTAC	0.498													20	41					0	0	0	0	G	140798050	C	G	140798050	3	3	210	1	0	0	0	0	1	0	0	0	11639	506	18	4	626	4	PCDHGB7	5	140798050	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	33711	140798050	40117210	253	37489											
ARHGEF37	389337	broad.mit.edu	37	chr5	149006649	149006649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcccagccgctccttcCagggtctgaacgccaggtgc	5	8	10	18	2	2	1	0	1	2	0	5	1	4	1	6	2	3	1	6	2	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:149006649C>T	ENST00000333677.6	+	11	1638	c.1475C>T	c.(1474-1476)cCa>cTa	p.P492L		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	492					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CCGCTCCTTCCAGGGTCTGAA	0.557													23	78					0	0	0	0	T	149006649	C	T	149006649	3	4	210	1	0	0	0	0	1	0	0	0	908	594	21	4	1513	4	ARHGEF37	5	149006649	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	8208599	149006649	31908611	254	37490											
MED7	9443	broad.mit.edu	37	chr5	156566373	156566373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagccttcttgaatattttCatccgtatattccttgatat	10	19	4	8	1	2	2	1	2	1	0	4	2	4	2	3	0	1	1	3	0	6	11			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:156566373C>T	ENST00000286317.5	-	2	451	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	MED7_ENST00000420343.1_Missense_Mutation_p.E24K	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	24					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGAATATTTTCATCCGTATAT	0.433													14	56					0	0	0	0	T	156566373	C	T	156566373	3	4	210	1	0	0	0	0	1	0	0	0	9521	835	29	2	635	2	MED7	5	156566373	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	7559724	156566373	24348887	255	37491											
GABRA6	2559	broad.mit.edu	37	chr5	161119065	161119065	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgctttgcattcgtcttCtctgcgcttatcgagttcgc	3	18	9	11	4	2	0	0	0	2	0	6	1	2	0	0	0	3	5	0	0	1	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:161119065C>T	ENST00000523217.1	+	8	1157	c.915C>T	c.(913-915)ttC>ttT	p.F305F	GABRA6_ENST00000274545.5_Silent_p.F315F	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	315					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATTCGTCTTCTCTGCGCTTA	0.488										TCGA Ovarian(5;0.080)			10	92					0	0	0	0	T	161119065	C	T	161119065	2	4	210	1	0	0	0	0	0	0	0	1	6213	912	32	2		2	GABRA6	5	161119065	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4552692	161119065	19796195	256	37492											
LCP2	3937	broad.mit.edu	37	chr5	169714999	169714999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggagcttggggaacttctGgatgtcattttctgtcaggt	6	14	13	8	1	4	0	2	0	2	0	4	3	4	3	1	5	2	1	1	5	1	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:169714999G>C	ENST00000046794.5	-	3	778	c.163C>G	c.(163-165)Cag>Gag	p.Q55E		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	55	SAM.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGGAACTTCTGGATGTCATTT	0.537													11	31					0	0	0	0	C	169714999	G	C	169714999	3	2	210	1	0	0	0	0	1	0	0	0	8745	1357	47	4	1514	4	LCP2	5	169714999	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	8595934	169714999	11200261	257	37493											
STK10	6793	broad.mit.edu	37	chr5	171471924	171471924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaggggaagaacttggCggccttgcttggggtggagg	7	9	19	6	1	0	1	0	0	0	1	0	3	0	3	1	8	2	2	1	8	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:171471924C>T	ENST00000176763.5	-	19	3212	c.2869G>A	c.(2869-2871)Gcc>Acc	p.A957T		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	957							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGAACTTGGCGGCCTTGCTT	0.597													11	52					0	0	0	0	T	171471924	C	T	171471924	3	4	210	1	0	0	0	0	1	0	0	0	15376	768	27	1	41	1	STK10	5	171471924	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1756925	171471924	9443336	258	37494											
CPEB4	80315	broad.mit.edu	37	chr5	173376544	173376544	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttttcgtcgctttggccCtctgattgtggattggcctc	3	17	11	10	2	1	1	0	1	1	0	4	2	1	2	2	3	0	2	2	3	1	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:173376544C>G	ENST00000265085.5	+	6	2944	c.1490C>G	c.(1489-1491)cCt>cGt	p.P497R	CPEB4_ENST00000520867.1_Missense_Mutation_p.P472R|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000517880.1_Missense_Mutation_p.P90R|CPEB4_ENST00000519835.1_Missense_Mutation_p.P472R|CPEB4_ENST00000522336.1_Missense_Mutation_p.P107R|CPEB4_ENST00000334035.5_Missense_Mutation_p.P480R	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	497	RRM 1.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGCTTTGGCCCTCTGATTGTG	0.308													7	31					0	0	0	0	G	173376544	C	G	173376544	3	3	210	1	0	0	0	0	1	0	0	0	3833	681	24	4	1512	4	CPEB4	5	173376544	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1904620	173376544	7538716	259	37495											
GPRIN1	114787	broad.mit.edu	37	chr5	176026208	176026208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcccagggatccaagatCttcctttcttacagtcatgg	8	15	7	11	0	3	1	1	0	2	1	6	2	6	2	3	2	1	0	3	2	2	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:176026208C>T	ENST00000303991.4	-	2	805	c.628G>A	c.(628-630)Gat>Aat	p.D210N		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	210						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATCCAAGATCTTCCTTTCTT	0.507													7	82					0	0	0	0	T	176026208	C	T	176026208	3	4	210	1	0	0	0	0	1	0	0	0	6779	913	32	2	2402	2	GPRIN1	5	176026208	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2649664	176026208	4889052	260	37496											
GRM6	2916	broad.mit.edu	37	chr5	178416278	178416278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctcacctgtgcatttgcGggtggaatcgtctgactggg	5	12	14	10	2	2	1	1	1	2	0	4	2	2	2	1	3	2	2	1	3	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:178416278G>A	ENST00000231188.5	-	5	1319	c.1141C>T	c.(1141-1143)Cgc>Tgc	p.R381C	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.R381C	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	381					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTGCATTTGCGGGTGGAATCG	0.617													14	30					0	0	0	0	A	178416278	G	A	178416278	3	1	210	1	0	0	0	0	1	0	0	0	6851	1116	39	1	1516	1	GRM6	5	178416278	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2390070	178416278	2498982	261	37497											
FLT4	2324	broad.mit.edu	37	chr5	180046692	180046692	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattttcacggccacggtgtCacagctgctgcccttgtgga	6	11	11	13	2	2	0	2	0	0	0	2	1	2	1	2	3	3	2	2	3	0	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:180046692C>G	ENST00000261937.6	-	18	2698	c.2620G>C	c.(2620-2622)Gac>Cac	p.D874H	FLT4_ENST00000502649.1_Missense_Mutation_p.D874H|FLT4_ENST00000393347.3_Missense_Mutation_p.D874H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	874	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCCACGGTGTCACAGCTGCTG	0.677													5	125					0	0	0	0	G	180046692	C	G	180046692	3	3	210	1	0	0	0	0	1	0	0	0	5989	826	29	2	1531	2	FLT4	5	180046692	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1630414	180046692	868568	262	37498											
BTNL9	153579	broad.mit.edu	37	chr5	180477289	180477289	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatctgtggttgtccgagCgggagccctcagcaatgtgt	8	10	13	10	2	2	0	1	0	1	0	3	2	3	1	2	2	4	2	2	2	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:180477289C>G	ENST00000327705.9	+	4	887	c.656C>G	c.(655-657)gCg>gGg	p.A219G	BTNL9_ENST00000515271.1_Missense_Mutation_p.A150G|BTNL9_ENST00000376842.3_Missense_Mutation_p.A219G|BTNL9_ENST00000376841.2_Missense_Mutation_p.A219G	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	219						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGTCCGAGCGGGAGCCCTC	0.557													24	91					0	0	0	0	G	180477289	C	G	180477289	3	3	210	1	0	0	0	0	1	0	0	0	1577	768	27	3	666	3	BTNL9	5	180477289	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	430597	180477289	437971	263	37499											
KIF13A	63971	broad.mit.edu	37	chr6	17764532	17764532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatcaaaatcttttccctCtgacactcccataaattctg	12	13	2	14	0	4	1	1	1	3	0	6	1	6	1	3	0	0	0	3	0	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:17764532C>T	ENST00000378814.5	-	37	5082	c.5083G>A	c.(5083-5085)Gag>Aag	p.E1695K	KIF13A_ENST00000378826.2_Missense_Mutation_p.E1708K|KIF13A_ENST00000259711.6_Missense_Mutation_p.E1743K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E1695K|KIF13A_ENST00000378816.5_Missense_Mutation_p.E1708K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1743					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCTTTTCCCTCTGACACTCCC	0.493													19	40					0	0	0	0	T	17764532	C	T	17764532	3	4	210	1	0	0	0	0	1	0	0	0	8325	922	32	2	219	2	KIF13A	6	17764532	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08		17764532	153350535	264	37500											
KIF13A	63971	broad.mit.edu	37	chr6	17817357	17817357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggggagagctgctggcGgagttgctccagttcccgct	4	9	17	11	3	0	1	0	0	0	1	3	3	2	2	2	4	3	6	2	4	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:17817357G>A	ENST00000378814.5	-	17	1893	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	KIF13A_ENST00000503342.1_5'UTR|KIF13A_ENST00000378826.2_Missense_Mutation_p.R632C|KIF13A_ENST00000259711.6_Missense_Mutation_p.R632C|KIF13A_ENST00000378843.2_Missense_Mutation_p.R632C|KIF13A_ENST00000378816.5_Missense_Mutation_p.R632C	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	632					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGCTGCTGGCGGAGTTGCTCC	0.587													18	55					0	0	0	0	A	17817357	G	A	17817357	3	1	210	1	0	0	0	0	1	0	0	0	8325	1116	39	1	3640	1	KIF13A	6	17817357	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	52825	17817357	153297710	265	37501											
RNF144B	255488	broad.mit.edu	37	chr6	18459890	18459890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagcagtgcccagtttgcCgggtttatatcgaacgcaat	10	12	10	9	3	0	0	0	0	0	0	1	1	0	0	2	1	4	4	2	1	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:18459890C>T	ENST00000259939.3	+	6	906	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	RNF144B_ENST00000429054.2_Missense_Mutation_p.R108W	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	197					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			CCCAGTTTGCCGGGTTTATAT	0.468													5	74					0	0	0	0	T	18459890	C	T	18459890	3	4	210	1	0	0	0	0	1	0	0	0	13531	643	23	1	607	1	RNF144B	6	18459890	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	642533	18459890	152655177	266	37502											
FAM65B	9750	broad.mit.edu	37	chr6	24843287	24843287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgtggccattggcacctCtgcagatgtgagcctcttga	6	12	12	11	0	3	3	0	2	3	1	3	3	3	3	3	2	2	2	3	2	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:24843287C>G	ENST00000259698.4	-	14	1898	c.1723G>C	c.(1723-1725)Gag>Cag	p.E575Q	FAM65B_ENST00000538035.1_Missense_Mutation_p.E554Q|FAM65B_ENST00000510784.2_Missense_Mutation_p.E559Q|FAM65B_ENST00000540914.1_Missense_Mutation_p.E525Q|FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000378023.4_Missense_Mutation_p.E525Q	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	575					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						ATTGGCACCTCTGCAGATGTG	0.522													21	216					0	0	0	0	G	24843287	C	G	24843287	3	3	210	1	0	0	0	0	1	0	0	0	5646	922	32	2	1533	2	FAM65B	6	24843287	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	6383397	24843287	146271780	267	37503											
FAM65B	9750	broad.mit.edu	37	chr6	24873906	24873906	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caaggccctgtagacttcttCcacccttttaggctgaggct	7	12	9	13	0	1	2	0	1	1	1	2	2	2	2	3	3	0	3	3	3	3	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:24873906C>G	ENST00000259698.4	-	3	398	c.223G>C	c.(223-225)Gaa>Caa	p.E75Q	FAM65B_ENST00000538035.1_Missense_Mutation_p.E104Q|FAM65B_ENST00000510784.2_Missense_Mutation_p.E109Q|FAM65B_ENST00000540914.1_Missense_Mutation_p.E75Q|FAM65B_ENST00000378023.4_Missense_Mutation_p.E75Q	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	75	Involved in cell filopodia formation.				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TAGACTTCTTCCACCCTTTTA	0.448													15	72					0	0	0	0	G	24873906	C	G	24873906	3	3	210	1	0	0	0	0	1	0	0	0	5646	864	30	2	3077	2	FAM65B	6	24873906	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	30619	24873906	146241161	268	37504											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271337	26271337	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctcgcaggcctcctgcagGgccatcaccgcggaactctg	6	6	12	17	3	2	0	1	0	1	0	4	1	3	1	5	3	2	2	5	3	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:26271337G>T	ENST00000305910.3	-	1	275	c.276C>A	c.(274-276)gcC>gcA	p.A92A		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	92					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTCCTGCAGGGCCATCACCG	0.562													29	122					1.1423e-28	2.84116e-28	1	0	T	26271337	G	T	26271337	2	4	210	1	0	0	0	0	0	0	0	1	7211	1219	43	4		4	HIST1H3G	6	26271337	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1397431	26271337	144843730	269	37505											
OR2B6	26212	broad.mit.edu	37	chr6	27925414	27925414	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttgtcggcctctccattaCtcagttatcatgcaccagag	9	13	7	12	1	3	1	2	0	1	1	5	1	3	1	3	1	2	2	3	1	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:27925414C>A	ENST00000244623.1	+	1	396	c.396C>A	c.(394-396)taC>taA	p.Y132*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTCCATTACTCAGTTATCA	0.493													14	156					1.5842e-08	3.41618e-08	1	0	A	27925414	C	A	27925414	4	1	210	1	0	0	0	0	0	1	0	0	11062	576	20	4	398	4	OR2B6	6	27925414	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1654077	27925414	143189653	270	37506											
ZSCAN16	80345	broad.mit.edu	37	chr6	28093331	28093331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgcagtcctcacaggaGggaactctatagacaacact	15	7	9	10	0	2	1	1	0	1	1	3	3	3	3	1	2	3	1	1	2	5	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:28093331G>T	ENST00000340487.4	+	2	259	c.110G>T	c.(109-111)aGg>aTg	p.R37M	RP1-265C24.9_ENST00000602810.1_RNA|RP1-265C24.9_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	37					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCTCACAGGAGGGAACTCTAT	0.532													8	251					0.00448238	0.00839428	1	0	T	28093331	G	T	28093331	3	4	210	1	0	0	0	0	1	0	0	0	18321	1000	35	4	112	4	ZSCAN16	6	28093331	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	167917	28093331	143021736	271	37507											
ZNF311	282890	broad.mit.edu	37	chr6	28971724	28971724	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccctcctcttcttaccTcctgcatctttttactcagg	6	15	4	16	0	4	1	1	0	3	1	6	1	6	1	4	1	3	1	4	1	2	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:28971724T>G	ENST00000377179.3	-	2	520	c.9_splice	c.e2+1	p.E3_splice	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TCTTCTTACCTCCTGCATCTT	0.463													18	110					0	0	0	0	G	28971724	T	G	28971724	5	3	210	1	0	0	0	0	0	0	1	0	17929	1565	54	5	2016	5	ZNF311	6	28971724	Splice_Site	SNP	T	TCGA-CR-7388-01A-11D-2012-08	878393	28971724	142143343	272	37508											
OR2H1	26716	broad.mit.edu	37	chr6	29430223	29430223	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcccaggcagtgctgaggaTtaactctgccacagcatgga	10	8	12	11	0	1	1	0	1	1	0	1	3	1	3	2	3	5	3	2	3	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:29430223T>A	ENST00000377136.1	+	4	1142	c.677T>A	c.(676-678)aTt>aAt	p.I226N	OR2H1_ENST00000377133.1_Missense_Mutation_p.I226N|OR2H1_ENST00000377132.1_Missense_Mutation_p.I226N|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Missense_Mutation_p.I226N|OR2H1_ENST00000396792.2_Missense_Mutation_p.I226N			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GTGCTGAGGATTAACTCTGCC	0.537													22	133					0	0	0	0	A	29430223	T	A	29430223	3	1	210	1	0	0	0	0	1	0	0	0	11072	1493	52	5	679	5	OR2H1	6	29430223	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	458499	29430223	141684844	273	37509											
MDC1	9656	broad.mit.edu	37	chr6	30673437	30673437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaggtgacaggctggtCtgtggaggtggaaggctgga	8	8	19	6	0	2	2	1	1	1	1	2	5	2	5	0	8	0	2	0	8	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:30673437C>A	ENST00000376406.3	-	10	4170	c.3523G>T	c.(3523-3525)Gac>Tac	p.D1175Y	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.D911Y	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1175	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						ACAGGCTGGTCTGTGGAGGTG	0.552								Other conserved DNA damage response genes					89	219					5.48297e-45	1.37153e-44	1	0	A	30673437	C	A	30673437	3	1	210	1	0	0	0	0	1	0	0	0	9472	913	32	2	2770	2	MDC1	6	30673437	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1243214	30673437	140441630	274	37510											
DDR1	780	broad.mit.edu	37	chr6	30863278	30863278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccgcctgggccaaaccCaccaacacccagggtaagcc	12	2	8	19	1	0	0	0	0	0	0	0	0	0	0	7	2	3	1	7	2	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:30863278C>T	ENST00000361741.4	+	7	917	c.722C>T	c.(721-723)cCa>cTa	p.P241L	DDR1_ENST00000376575.3_Silent_p.P537P|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000513240.1_Silent_p.P537P|DDR1_ENST00000452441.1_Silent_p.P537P|DDR1_ENST00000418800.2_Intron|DDR1_ENST00000508312.1_Intron|DDR1_ENST00000376570.4_Intron|DDR1_ENST00000376568.3_Silent_p.P537P|DDR1_ENST00000324771.8_Silent_p.P537P|DDR1_ENST00000446312.1_Intron|DDR1_ENST00000376567.2_Intron			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	564					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGGCCAAACCCACCAACACCC	0.677													29	107					0	0	0	0	T	30863278	C	T	30863278	3	4	210	1	0	0	0	0	1	0	0	0	4368	581	21	4	1653	4	DDR1	6	30863278	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	189841	30863278	140251789	275	37511											
GTF2H4	2968	broad.mit.edu	37	chr6	30878470	30878470	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggtctgatgacacaagtCagctgggaccagacaagcat	12	7	11	11	0	2	3	1	2	1	1	2	4	2	4	2	2	2	2	2	2	2	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:30878470C>T	ENST00000259895.4	+	5	626	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	GTF2H4_ENST00000539324.1_Nonsense_Mutation_p.Q79*|GTF2H4_ENST00000376316.2_Nonsense_Mutation_p.Q135*	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	135					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGACACAAGTCAGCTGGGACC	0.592								Nucleotide excision repair (NER)					4	21					0	0	0	0	T	30878470	C	T	30878470	4	4	210	1	0	0	0	0	0	1	0	0	6915	827	29	2	417	2	GTF2H4	6	30878470	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	15192	30878470	140236597	276	37512											
CCHCR1	54535	broad.mit.edu	37	chr6	31112662	31112662	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccatttccctctcgacacCttgcccgtagagttcctgct	6	12	6	17	2	1	1	0	0	1	1	4	2	3	1	5	0	2	3	5	0	1	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:31112662C>G	ENST00000396268.3	-	14	2253	c.2065_splice	c.e14+1	p.A689_splice	CCHCR1_ENST00000396263.2_Splice_Site_p.A547_splice|CCHCR1_ENST00000451521.2_Splice_Site_p.A653_splice|CCHCR1_ENST00000376266.5_Splice_Site_p.A600_splice	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	600					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTCTCGACACCTTGCCCGTAG	0.627													26	121					0	0	0	0	G	31112662	C	G	31112662	5	3	210	1	0	0	0	0	0	0	1	0	2904	695	24	4	570	4	CCHCR1	6	31112662	Splice_Site	SNP	C	TCGA-CR-7388-01A-11D-2012-08	234192	31112662	140002405	277	37513											
TNXB	7148	broad.mit.edu	37	chr6	32035750	32035750	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgtggggctgggggtctCttcctctgcagctgagaagg	4	12	16	9	0	3	1	0	1	3	1	5	2	4	1	1	5	2	3	1	5	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:32035750C>G	ENST00000375244.3	-	18	6433	c.6232G>C	c.(6232-6234)Gag>Cag	p.E2078Q	TNXB_ENST00000375247.2_Missense_Mutation_p.E2078Q			P22105	TENX_HUMAN	tenascin XB	2155	Fibronectin type-III 13.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGGGGGTCTCTTCCTCTGCA	0.632													12	39					0	0	0	0	G	32035750	C	G	32035750	3	3	210	1	0	0	0	0	1	0	0	0	16440	922	32	2	8589	2	TNXB	6	32035750	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	923088	32035750	139079317	278	37514											
TNXB	7148	broad.mit.edu	37	chr6	32037926	32037926	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgccgtcggcagtgagAgggccatggcgcttcttgcc	4	9	17	11	3	1	1	0	1	1	1	2	2	1	1	3	4	2	2	3	4	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:32037926A>C	ENST00000375244.3	-	14	5457	c.5256T>G	c.(5254-5256)ccT>ccG	p.P1752P	TNXB_ENST00000375247.2_Silent_p.P1752P			P22105	TENX_HUMAN	tenascin XB	1834					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGCAGTGAGAGGGCCATGGC	0.642													9	19					0	0	0	0	C	32037926	A	C	32037926	2	2	210	1	0	0	0	0	0	0	0	1	16440	291	11	5		5	TNXB	6	32037926	Silent	SNP	A	TCGA-CR-7388-01A-11D-2012-08	2176	32037926	139077141	279	37515											
TCP11	6954	broad.mit.edu	37	chr6	35087972	35087972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaaggatttggttatgCgtttcagtttatctacaaat	12	15	7	7	1	2	0	1	0	1	0	2	1	2	1	1	2	3	3	1	2	6	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:35087972C>T	ENST00000311875.5	-	8	1535	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	TCP11_ENST00000512012.1_Missense_Mutation_p.R360H|TCP11_ENST00000373974.4_Missense_Mutation_p.R327H|TCP11_ENST00000444780.2_Missense_Mutation_p.R368H|TCP11_ENST00000412155.2_Missense_Mutation_p.R322H|TCP11_ENST00000244645.3_Missense_Mutation_p.R298H|TCP11_ENST00000418521.2_Missense_Mutation_p.R297H|TCP11_ENST00000373979.2_Missense_Mutation_p.R298H			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	360					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTTGGTTATGCGTTTCAGTTT	0.438													4	24					0	0	0	0	T	35087972	C	T	35087972	3	4	210	1	0	0	0	0	1	0	0	0	15807	768	27	1	444	1	TCP11	6	35087972	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3050046	35087972	136027095	280	37516											
CPNE5	57699	broad.mit.edu	37	chr6	36767803	36767803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacaatgaacttgcgcacGaagtcaggattgagcgtgtt	11	10	11	9	3	1	2	1	2	0	0	2	4	2	3	1	1	3	2	1	1	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:36767803G>A	ENST00000244751.2	-	4	852	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	76	C2 1.							p.F76F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACTTGCGCACGAAGTCAGGAT	0.552													9	34					0	0	0	0	A	36767803	G	A	36767803	2	1	210	1	0	0	0	0	0	0	0	1	3845	1049	37	1		1	CPNE5	6	36767803	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1679831	36767803	134347264	281	37517											
GCM1	8521	broad.mit.edu	37	chr6	52993189	52993189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtatgcaggagactggaCgtagctgttaaaatccacat	13	10	11	7	1	0	1	0	0	0	1	1	3	1	2	1	3	2	5	1	3	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:52993189C>T	ENST00000259803.7	-	6	1337	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	376						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GGAGACTGGACGTAGCTGTTA	0.478													14	165					0	0	0	0	T	52993189	C	T	52993189	3	4	210	1	0	0	0	0	1	0	0	0	6346	536	19	1	188	1	GCM1	6	52993189	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	16225386	52993189	118121878	282	37518											
COL21A1	81578	broad.mit.edu	37	chr6	56044743	56044743	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcctgaatcatagcttccGagaggaatctccagcacagg	11	9	9	12	1	3	2	1	1	2	1	6	4	4	3	3	2	2	2	3	2	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:56044743G>A	ENST00000244728.5	-	3	670	c.273C>T	c.(271-273)ctC>ctT	p.L91L	COL21A1_ENST00000535941.1_Silent_p.L91L|COL21A1_ENST00000370819.1_Silent_p.L91L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	91	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATAGCTTCCGAGAGGAATCT	0.453													4	14					0	0	0	0	A	56044743	G	A	56044743	2	1	210	1	0	0	0	0	0	0	0	1	3710	1045	37	1		1	COL21A1	6	56044743	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3051554	56044743	115070324	283	37519											
DST	667	broad.mit.edu	37	chr6	56473360	56473360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgatatgtgaggatactGctagcagtgtccctgtcaat	10	12	10	9	0	1	2	1	2	0	0	2	3	2	3	2	1	3	2	2	1	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:56473360G>A	ENST00000370754.5	-	39	5966	c.5967C>T	c.(5965-5967)agC>agT	p.S1989S	DST_ENST00000370769.4_Silent_p.S1811S|DST_ENST00000446842.2_Silent_p.S1485S|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Silent_p.S1811S|DST_ENST00000361203.3_Silent_p.S1811S|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	1811					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAGGATACTGCTAGCAGTGT	0.448													6	27					0	0	0	0	A	56473360	G	A	56473360	2	1	210	1	0	0	0	0	0	0	0	1	4819	1334	46	4		4	DST	6	56473360	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	428617	56473360	114641707	284	37520											
DST	667	broad.mit.edu	37	chr6	56484118	56484118	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctactttttgttttaGcatctctgcacactcattac	7	18	3	13	0	3	0	1	0	2	0	5	0	4	0	1	0	4	3	1	0	3	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:56484118G>A	ENST00000370765.6	-	23	4821	c.4714C>T	c.(4714-4716)Cta>Tta	p.L1572L	DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5251					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTGTTTTAGCATCTCTGCA	0.328													9	105					0	0	0	0	A	56484118	G	A	56484118	2	1	210	1	0	0	0	0	0	0	0	1	4819	962	34	4		4	DST	6	56484118	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	10758	56484118	114630949	285	37521											
ZNF451	26036	broad.mit.edu	37	chr6	57013446	57013446	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaactattcaaaaagtttaGacatggagaaaggagttgag	18	10	10	3	0	1	3	1	1	0	2	1	5	1	4	0	2	1	2	0	2	7	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:57013446G>C	ENST00000370706.4	+	10	2807	c.2563G>C	c.(2563-2565)Gac>Cac	p.D855H	RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D855H|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D855H|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	855					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAAAAGTTTAGACATGGAGAA	0.333													4	33					0	0	0	0	C	57013446	G	C	57013446	3	2	210	1	0	0	0	0	1	0	0	0	18017	942	33	2	2601	2	ZNF451	6	57013446	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	529328	57013446	114101621	286	37522											
PHF3	23469	broad.mit.edu	37	chr6	64394442	64394442	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaagaaaaatgaagctttGatggaatgtaaagccaagcc	19	7	10	5	0	0	3	0	2	0	1	0	5	0	4	2	1	3	2	2	1	9	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:64394442G>C	ENST00000262043.3	+	4	1159	c.819G>C	c.(817-819)ttG>ttC	p.L273F	PHF3_ENST00000509330.1_Missense_Mutation_p.L273F|PHF3_ENST00000393387.1_Missense_Mutation_p.L273F			Q92576	PHF3_HUMAN	PHD finger protein 3	273					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATGAAGCTTTGATGGAATGTA	0.348													5	63					0	0	0	0	C	64394442	G	C	64394442	3	2	210	1	0	0	0	0	1	0	0	0	11908	1281	45	2	829	2	PHF3	6	64394442	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	7380996	64394442	106720625	287	37523											
BAI3	577	broad.mit.edu	37	chr6	69949029	69949029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctaggtacatacgctctGagagatccataatactaatt	13	12	8	8	1	1	2	0	1	1	1	2	3	2	2	1	2	3	3	1	2	6	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:69949029G>C	ENST00000370598.1	+	20	3546	c.2725G>C	c.(2725-2727)Gag>Cag	p.E909Q	BAI3_ENST00000238918.8_Missense_Mutation_p.E115Q	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	909					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATACGCTCTGAGAGATCCAT	0.373													12	142					0	0	0	0	C	69949029	G	C	69949029	3	2	210	1	0	0	0	0	1	0	0	0	1304	1291	45	2	2795	2	BAI3	6	69949029	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	5554587	69949029	101166038	288	37524											
SIM1	6492	broad.mit.edu	37	chr6	100868714	100868714	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactttgagctggagagccgGgatttggccccctttctgtt	5	13	13	10	1	1	2	0	1	1	1	1	5	1	3	3	3	2	2	3	3	0	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:100868714G>A	ENST00000369208.3	-	10	1901	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	SIM1_ENST00000262901.4_Silent_p.S373S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	373	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGAGAGCCGGGATTTGGCCC	0.507													11	37					0	0	0	0	A	100868714	G	A	100868714	2	1	210	1	0	0	0	0	0	0	0	1	14411	1219	43	4		4	SIM1	6	100868714	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	30919685	100868714	70246353	289	37525											
LAMA2	3908	broad.mit.edu	37	chr6	129513899	129513899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccccagcaggacgacttGgactcacctcagcagatcag	10	6	10	15	1	3	1	3	0	0	1	4	4	4	3	3	2	2	3	3	2	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:129513899G>T	ENST00000421865.2	+	12	1732	c.1683G>T	c.(1681-1683)ttG>ttT	p.L561F		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	561	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGGACGACTTGGACTCACCTC	0.557													7	42					0.00198382	0.00375531	1	0	T	129513899	G	T	129513899	3	4	210	1	0	0	0	0	1	0	0	0	8659	1339	47	4	1729	4	LAMA2	6	129513899	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	28645185	129513899	41601168	290	37526											
EPB41L2	2037	broad.mit.edu	37	chr6	131222264	131222264	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagagcatgagtcacaaaaGagcagggcaggcggccagag	14	2	17	8	1	1	4	1	1	0	3	1	5	1	4	1	4	2	3	1	4	2	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:131222264G>C	ENST00000337057.3	-	7	1167	c.986C>G	c.(985-987)tCt>tGt	p.S329C	EPB41L2_ENST00000530481.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S329C|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S329C|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S329C|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000525271.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S329C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	329	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AGTCACAAAAGAGCAGGGCAG	0.547													13	78					0	0	0	0	C	131222264	G	C	131222264	3	2	210	1	0	0	0	0	1	0	0	0	5191	942	33	2	2083	2	EPB41L2	6	131222264	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1708365	131222264	39892803	291	37527											
SYNE1	23345	broad.mit.edu	37	chr6	152786534	152786534	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acactcctcacttctactgaGagattcctccactgagcggt	9	11	7	14	1	2	3	1	2	1	1	5	4	5	3	3	1	2	0	3	1	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:152786534G>C	ENST00000367255.5	-	18	2392	c.1791C>G	c.(1789-1791)ctC>ctG	p.L597L	SYNE1_ENST00000413186.2_Silent_p.L597L|SYNE1_ENST00000265368.4_Silent_p.L597L|SYNE1_ENST00000448038.1_Silent_p.L604L|SYNE1_ENST00000367248.3_Silent_p.L587L|SYNE1_ENST00000367253.4_Silent_p.L597L|SYNE1_ENST00000495090.2_Silent_p.L164L|SYNE1_ENST00000341594.5_Silent_p.L604L|SYNE1_ENST00000423061.1_Silent_p.L604L|SYNE1_ENST00000466159.2_Silent_p.L597L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	597					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCTACTGAGAGATTCCTCC	0.443										HNSCC(10;0.0054)			8	41					0	0	0	0	C	152786534	G	C	152786534	2	2	210	1	0	0	0	0	0	0	0	1	15536	929	33	2		2	SYNE1	6	152786534	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	21564270	152786534	18328533	292	37528											
SYNE1	23345	broad.mit.edu	37	chr6	152826448	152826448	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccaagtccaccaattcCggtcgaatggcatgaataac	12	9	8	12	2	1	1	0	1	1	0	5	2	3	1	4	2	1	1	4	2	5	2	rs141368652		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:152826448C>A	ENST00000367255.5	-	9	1267	c.666G>T	c.(664-666)ccG>ccT	p.P222P	SYNE1_ENST00000413186.2_Silent_p.P222P|SYNE1_ENST00000265368.4_Silent_p.P222P|SYNE1_ENST00000448038.1_Silent_p.P229P|SYNE1_ENST00000367248.3_Silent_p.P229P|SYNE1_ENST00000367253.4_Silent_p.P222P|SYNE1_ENST00000341594.5_Silent_p.P222P|SYNE1_ENST00000423061.1_Silent_p.P229P|SYNE1_ENST00000466159.2_Silent_p.P222P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	222	Actin-binding.|CH 2.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCACCAATTCCGGTCGAATGG	0.448										HNSCC(10;0.0054)			12	42					1.08611e-07	2.30239e-07	1	0	A	152826448	C	A	152826448	2	1	210	1	0	0	0	0	0	0	0	1	15536	639	23	3		3	SYNE1	6	152826448	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	39914	152826448	18288619	293	37529											
CNKSR3	154043	broad.mit.edu	37	chr6	154763316	154763316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgcgggaggtgttgccatCgtaagcgggacttttccgtc	5	12	14	10	4	0	0	0	0	0	0	3	2	1	2	2	3	3	2	2	3	1	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:154763316C>T	ENST00000607772.1	-	3	869	c.325G>A	c.(325-327)Gat>Aat	p.D109N	CNKSR3_ENST00000479339.1_Missense_Mutation_p.D29N	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	109	CRIC.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GTGTTGCCATCGTAAGCGGGA	0.542													6	45					0	0	0	0	T	154763316	C	T	154763316	3	4	210	1	0	0	0	0	1	0	0	0	3638	884	31	1	1386	1	CNKSR3	6	154763316	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1936868	154763316	16351751	294	37530											
SYNJ2	8871	broad.mit.edu	37	chr6	158516991	158516991	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccagggcctcacttacaaTagcagtgacagcccctctgg	9	8	9	15	0	2	1	1	1	1	0	3	1	3	1	4	2	3	1	4	2	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:158516991T>C	ENST00000355585.4	+	27	4161	c.4086T>C	c.(4084-4086)aaT>aaC	p.N1362N	SYNJ2_ENST00000367122.2_Silent_p.N1317N|SYNJ2_ENST00000367112.1_Silent_p.N447N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1362							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCACTTACAATAGCAGTGACA	0.622													8	31					0	0	0	0	C	158516991	T	C	158516991	2	2	210	1	0	0	0	0	0	0	0	1	15544	1403	49	5		5	SYNJ2	6	158516991	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	3753675	158516991	12598076	295	37531											
MAS1	4142	broad.mit.edu	37	chr6	160328648	160328648	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggaagaacacgtgggctTcccattcctccaagctttac	9	10	8	14	2	0	1	0	0	0	1	4	2	4	2	4	2	3	2	4	2	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:160328648T>G	ENST00000252660.4	+	1	675	c.661T>G	c.(661-663)Tcc>Gcc	p.S221A		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	221					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		CACGTGGGCTTCCCATTCCTC	0.483													7	39					0	0	0	0	G	160328648	T	G	160328648	3	3	210	1	0	0	0	0	1	0	0	0	9389	1783	62	5	663	5	MAS1	6	160328648	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	1811657	160328648	10786419	296	37532											
PLG	5340	broad.mit.edu	37	chr6	161127476	161127476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgactatgtgaatacccaGggggcttcactgttcagtgt	9	12	12	8	0	2	2	2	2	0	0	2	3	2	2	1	2	1	2	1	2	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:161127476G>C	ENST00000308192.9	+	2	150	c.87G>C	c.(85-87)caG>caC	p.Q29H	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Missense_Mutation_p.Q29H	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	29	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGAATACCCAGGGGGCTTCAC	0.458													22	105					0	0	0	0	C	161127476	G	C	161127476	3	2	210	1	0	0	0	0	1	0	0	0	12158	991	35	4	93	4	PLG	6	161127476	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	798828	161127476	9987591	297	37533											
MAD1L1	8379	broad.mit.edu	37	chr7	2259027	2259027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgactccaggcgcttcaccCgcatctcctggtccatcacg	6	8	8	19	4	3	0	2	0	1	0	6	1	5	0	5	2	0	2	5	2	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:2259027C>A	ENST00000406869.1	-	6	1093	c.536G>T	c.(535-537)cGg>cTg	p.R179L	MAD1L1_ENST00000402746.1_Missense_Mutation_p.R87L|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R179L|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R179L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	179					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	p.R179Q(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCGCTTCACCCGCATCTCCTG	0.632													6	14					2.0095e-06	4.13957e-06	1	0	A	2259027	C	A	2259027	3	1	210	1	0	0	0	0	1	0	0	0	9212	652	23	3	1676	3	MAD1L1	7	2259027	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08		2259027	156879636	298	37534											
FTSJ2	29960	broad.mit.edu	37	chr7	2275158	2275158	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccagggggaatatgtgaaGaagatctaccccaagcacga	14	7	11	9	1	1	3	0	1	1	2	2	5	2	4	3	2	2	1	3	2	6	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:2275158G>C	ENST00000242257.8	-	3	368	c.340C>G	c.(340-342)Ctt>Gtt	p.L114V	FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000407040.1_Missense_Mutation_p.L20V|FTSJ2_ENST00000440306.2_3'UTR	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	114					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		AATATGTGAAGAAGATCTACC	0.468													10	51					0	0	0	0	C	2275158	G	C	2275158	3	2	210	1	0	0	0	0	1	0	0	0	6136	942	33	2	404	2	FTSJ2	7	2275158	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	16131	2275158	156863505	299	37535											
SNX8	29886	broad.mit.edu	37	chr7	2297046	2297046	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacggactccggctcgcggTtctgcgcggtggcgctcatc	3	8	14	16	7	2	0	1	0	1	0	5	1	3	1	2	5	1	3	2	5	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:2297046T>C	ENST00000222990.3	-	9	1130	c.1088A>G	c.(1087-1089)aAc>aGc	p.N363S		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	363					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGGCTCGCGGTTCTGCGCGGT	0.677													5	17					0	0	0	0	C	2297046	T	C	2297046	3	2	210	1	0	0	0	0	1	0	0	0	14996	1725	60	5	321	5	SNX8	7	2297046	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	21888	2297046	156841617	300	37536											
FOXK1	221937	broad.mit.edu	37	chr7	4796623	4796623	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatatctctgcttccctgcAgaattctatccggcacaacc	10	11	6	14	1	2	1	0	0	2	1	5	2	4	1	3	1	3	3	3	1	5	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:4796623A>G	ENST00000328914.4	+	5	1050		c.e5-1		FOXK1_ENST00000446823.1_Splice_Site	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1						cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GCTTCCCTGCAGAATTCTATC	0.532													7	42					0	0	0	0	G	4796623	A	G	4796623	5	3	210	1	0	0	0	0	0	0	1	0	6061	202	7	5	1067	5	FOXK1	7	4796623	Splice_Site	SNP	A	TCGA-CR-7388-01A-11D-2012-08	2499577	4796623	154342040	301	37537											
RAC1	5879	broad.mit.edu	37	chr7	6441557	6441557	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcatcctagtgggaactaAacttgatcttagggatgata	13	12	9	7	0	2	2	1	2	1	0	3	4	3	4	1	2	2	0	1	2	6	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:6441557A>G	ENST00000348035.4	+	5	560	c.347A>G	c.(346-348)aAa>aGa	p.K116R	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.K135R	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	116					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GTGGGAACTAAACTTGATCTT	0.488													4	81					0	0	0	0	G	6441557	A	G	6441557	3	3	210	1	0	0	0	0	1	0	0	0	13056	14	1	5	426	5	RAC1	7	6441557	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	1644934	6441557	152697106	302	37538											
MEOX2	4223	broad.mit.edu	37	chr7	15725621	15725621	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggccccagtcggggtgctgGagcccaagctggaagagttg	7	6	17	11	2	0	1	0	0	0	1	1	3	0	3	3	5	3	3	3	5	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:15725621G>C	ENST00000262041.5	-	1	816	c.407C>G	c.(406-408)tCc>tGc	p.S136C		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	136					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S136F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CGGGGTGCTGGAGCCCAAGCT	0.716													8	68					0	0	0	0	C	15725621	G	C	15725621	3	2	210	1	0	0	0	0	1	0	0	0	9543	1174	41	2	519	2	MEOX2	7	15725621	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	9284064	15725621	143413042	303	37539											
MACC1	346389	broad.mit.edu	37	chr7	20198324	20198324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgccttcagggttacccCatagttgctaaagttcaatg	10	12	8	11	0	2	0	2	0	0	0	2	0	2	0	3	1	3	4	3	1	5	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:20198324C>A	ENST00000400331.5	-	5	1968	c.1660G>T	c.(1660-1662)Ggg>Tgg	p.G554W	MACC1_ENST00000332878.4_Missense_Mutation_p.G554W|MACC1_ENST00000589011.1_Missense_Mutation_p.G554W	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	554	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AGGGTTACCCCATAGTTGCTA	0.378													6	142					0.00116845	0.00223601	1	0	A	20198324	C	A	20198324	3	1	210	1	0	0	0	0	1	0	0	0	9208	594	21	4	910	4	MACC1	7	20198324	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4472703	20198324	138940339	304	37540											
DNAH11	8701	broad.mit.edu	37	chr7	21779240	21779240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccataactgccagtatgtCgcctgcatgaatccgatggt	10	11	9	11	2	0	1	0	1	0	0	3	2	2	1	4	1	3	2	4	1	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:21779240C>T	ENST00000328843.6	+	49	7915	c.7884C>T	c.(7882-7884)gtC>gtT	p.V2628V	DNAH11_ENST00000409508.3_Silent_p.V2621V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2628	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCCAGTATGTCGCCTGCATGA	0.423									Kartagener syndrome				13	65					0	0	0	0	T	21779240	C	T	21779240	2	4	210	1	0	0	0	0	0	0	0	1	4636	871	31	1		1	DNAH11	7	21779240	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1580916	21779240	137359423	305	37541											
CPVL	54504	broad.mit.edu	37	chr7	29111998	29111998	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcacagggttgagggaatgGatgaggtgtgcaatggctgg	9	9	18	5	0	1	2	1	2	0	0	1	4	1	4	0	6	1	3	0	6	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:29111998G>A	ENST00000409850.1	-	12	1297	c.651C>T	c.(649-651)atC>atT	p.I217I	CPVL_ENST00000265394.5_Silent_p.I217I|CPVL_ENST00000396276.3_Silent_p.I217I			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	217					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TGAGGGAATGGATGAGGTGTG	0.433													13	35					0	0	0	0	A	29111998	G	A	29111998	2	1	210	1	0	0	0	0	0	0	0	1	3865	1164	41	2		2	CPVL	7	29111998	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	7332758	29111998	130026665	306	37542											
SCRN1	9805	broad.mit.edu	37	chr7	29980412	29980412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtccaccaaccttggctctGagcgtaactcctgagttccg	7	10	9	15	3	1	2	0	2	1	0	4	2	4	2	5	1	3	3	5	1	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:29980412G>C	ENST00000426154.1	-	5	801	c.625C>G	c.(625-627)Cag>Gag	p.Q209E	SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000242059.5_Missense_Mutation_p.Q209E|SCRN1_ENST00000409497.1_Missense_Mutation_p.Q209E	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	209					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCTTGGCTCTGAGCGTAACTC	0.527													18	162					0	0	0	0	C	29980412	G	C	29980412	3	2	210	1	0	0	0	0	1	0	0	0	14025	1299	45	2	635	2	SCRN1	7	29980412	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	868414	29980412	129158251	307	37543											
KBTBD2	25948	broad.mit.edu	37	chr7	32908969	32908969	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccccactatacaggtggTagtgcaaccatttctccatc	9	12	6	14	0	1	0	0	0	1	0	4	0	2	0	4	2	3	2	4	2	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:32908969T>C	ENST00000304056.4	-	4	2559	c.1860A>G	c.(1858-1860)ctA>ctG	p.L620L	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	620										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATACAGGTGGTAGTGCAACCA	0.423													8	58					0	0	0	0	C	32908969	T	C	32908969	2	2	210	1	0	0	0	0	0	0	0	1	8046	1625	57	5		5	KBTBD2	7	32908969	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	2928557	32908969	126229694	308	37544											
ANLN	54443	broad.mit.edu	37	chr7	36461541	36461541	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttaactgctgtgttgatGaagaacatggaaaagggtcc	12	11	11	7	0	1	3	0	2	1	1	2	4	2	4	1	2	3	2	1	2	5	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:36461541G>C	ENST00000265748.2	+	13	2460	c.2239G>C	c.(2239-2241)Gaa>Caa	p.E747Q	ANLN_ENST00000396068.2_Missense_Mutation_p.E710Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	747	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CTGTGTTGATGAAGAACATGG	0.393													4	48					0	0	0	0	C	36461541	G	C	36461541	3	2	210	1	0	0	0	0	1	0	0	0	693	1291	45	2	2289	2	ANLN	7	36461541	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3552572	36461541	122677122	309	37545											
SFRP4	6424	broad.mit.edu	37	chr7	37955825	37955825	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggggctcgcagtcgtcGcgcgcgcgttggcacaccga	6	6	16	13	8	0	1	0	1	0	0	3	2	0	1	1	3	0	4	1	3	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:37955825G>T	ENST00000436072.2	-	1	692	c.315C>A	c.(313-315)cgC>cgA	p.R105R	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	105	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R105R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CGCAGTCGTCGCGCGCGCGTT	0.622													11	42					2.80697e-09	6.15916e-09	1	0	T	37955825	G	T	37955825	2	4	210	1	0	0	0	0	0	0	0	1	14250	1074	38	3		3	SFRP4	7	37955825	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1494284	37955825	121182838	310	37546											
POM121L12	285877	broad.mit.edu	37	chr7	53103985	53103985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagacagcaagggtggcagGcggaacctgcagccccggcc	9	3	15	14	2	1	1	1	0	0	1	1	2	1	2	4	5	4	3	4	5	2	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:53103985G>T	ENST00000408890.4	+	1	637	c.621G>T	c.(619-621)agG>agT	p.R207S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	207										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGGGTGGCAGGCGGAACCTGC	0.667													17	53					2.39187e-15	5.73722e-15	1	0	T	53103985	G	T	53103985	3	4	210	1	0	0	0	0	1	0	0	0	12313	1194	42	4	623	4	POM121L12	7	53103985	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	15148160	53103985	106034678	311	37547											
ZNF479	90827	broad.mit.edu	37	chr7	57194383	57194383	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atccaggcattgccattcctCcagagagaattctatagcta	12	11	7	11	0	1	2	0	0	1	2	4	3	4	2	4	1	2	2	4	1	4	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:57194383C>G	ENST00000331162.4	-	3	352	c.82G>C	c.(82-84)Gag>Cag	p.E28Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGCCATTCCTCCAGAGAGAAT	0.438													17	64					0	0	0	0	G	57194383	C	G	57194383	3	3	210	1	0	0	0	0	1	0	0	0	18028	864	30	2	1504	2	ZNF479	7	57194383	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4090398	57194383	101944280	312	37548											
CLDN3	1365	broad.mit.edu	37	chr7	73184251	73184251	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaggccctcccagatgttCtgcgacgtgatgatgttgct	7	11	11	12	2	1	3	0	2	1	1	2	4	2	3	2	1	2	3	2	1	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:73184251C>T	ENST00000395145.2	-	1	349	c.129G>A	c.(127-129)caG>caA	p.Q43Q		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	43					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CCCAGATGTTCTGCGACGTGA	0.647													5	49					0	0	0	0	T	73184251	C	T	73184251	2	4	210	1	0	0	0	0	0	0	0	1	3516	912	32	2		2	CLDN3	7	73184251	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	15989868	73184251	85954412	313	37549											
HIP1	3092	broad.mit.edu	37	chr7	75189091	75189091	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtcctcccgctgcctcctGagctcgtccagttctgcccg	2	11	10	18	3	1	1	0	1	1	0	6	1	5	1	6	0	3	3	6	0	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:75189091G>A	ENST00000336926.6	-	14	1346	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L	HIP1_ENST00000434438.2_Silent_p.L440L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	440	pDED.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTGCCTCCTGAGCTCGTCCA	0.697			T	PDGFRB	CMML								15	72					0	0	0	0	A	75189091	G	A	75189091	2	1	210	1	0	0	0	0	0	0	0	1	7164	1277	45	2		2	HIP1	7	75189091	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2004840	75189091	83949572	314	37550											
MAGI2	9863	broad.mit.edu	37	chr7	77824251	77824251	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atatggatcaggcttccgtgGgtcaaaggcctctgttgagt	8	12	13	8	1	3	1	2	1	1	0	4	2	4	2	2	4	0	2	2	4	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:77824251G>C	ENST00000354212.4	-	12	2462	c.2209C>G	c.(2209-2211)Cca>Gca	p.P737A	MAGI2_ENST00000419488.1_Missense_Mutation_p.P737A|MAGI2_ENST00000522391.1_Missense_Mutation_p.P737A	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	737						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGCTTCCGTGGGTCAAAGGCC	0.488													11	59					0	0	0	0	C	77824251	G	C	77824251	3	2	210	1	0	0	0	0	1	0	0	0	9260	1232	43	4	2202	4	MAGI2	7	77824251	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2635160	77824251	81314412	315	37551											
SEMA3C	10512	broad.mit.edu	37	chr7	80394477	80394477	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagatgttcaaaccttaaaGacttccagctcctccagaat	14	10	6	11	0	1	3	1	0	0	3	4	4	4	3	4	0	2	2	4	0	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:80394477G>C	ENST00000265361.3	-	13	1998	c.1437C>G	c.(1435-1437)gtC>gtG	p.V479V	SEMA3C_ENST00000544525.1_Silent_p.V497V|SEMA3C_ENST00000419255.2_Silent_p.V479V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	479	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAACCTTAAAGACTTCCAGCT	0.378													4	70					0	0	0	0	C	80394477	G	C	80394477	2	2	210	1	0	0	0	0	0	0	0	1	14113	929	33	2		2	SEMA3C	7	80394477	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2570226	80394477	78744186	316	37552											
PCLO	27445	broad.mit.edu	37	chr7	82581261	82581261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacttttatagaaaaaatgtCcagcttctgctaaatttgtg	13	16	6	6	0	1	1	0	0	1	1	2	1	2	1	1	0	3	2	1	0	8	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:82581261C>T	ENST00000423517.2	-	5	9345	c.9008G>A	c.(9007-9009)gGa>gAa	p.G3003E	PCLO_ENST00000333891.8_Missense_Mutation_p.G3003E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2934					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAAAAATGTCCAGCTTCTGC	0.408													13	253					0	0	0	0	T	82581261	C	T	82581261	3	4	210	1	0	0	0	0	1	0	0	0	11654	855	30	2	6521	2	PCLO	7	82581261	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2186784	82581261	76557402	317	37553											
ABCB1	5243	broad.mit.edu	37	chr7	87148655	87148655	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttacaacagaacatcctCaaagctcatgagtttatgtg	14	12	6	9	0	2	2	2	1	0	1	3	2	3	2	1	0	5	2	1	0	6	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:87148655C>G	ENST00000265724.3	-	24	3331	c.2914G>C	c.(2914-2916)Gag>Cag	p.E972Q	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.E908Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	972	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGAACATCCTCAAAGCTCATG	0.393													7	72					0	0	0	0	G	87148655	C	G	87148655	3	3	210	1	0	0	0	0	1	0	0	0	40	835	29	2	952	2	ABCB1	7	87148655	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4567394	87148655	71990008	318	37554											
ZNF804B	219578	broad.mit.edu	37	chr7	88965082	88965082	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaacagcaaaaatcctttTagaaagagtacaagccaaga	19	8	6	8	0	1	3	0	0	1	3	2	3	2	3	2	0	4	2	2	0	8	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:88965082T>C	ENST00000333190.4	+	4	3395	c.2786T>C	c.(2785-2787)tTa>tCa	p.L929S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	929						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAAATCCTTTTAGAAAGAGTA	0.418										HNSCC(36;0.09)			39	245					0	0	0	0	C	88965082	T	C	88965082	3	2	210	1	0	0	0	0	1	0	0	0	18264	1764	61	5	2800	5	ZNF804B	7	88965082	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	1816427	88965082	70173581	319	37555											
ZNF804B	219578	broad.mit.edu	37	chr7	88965672	88965672	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagaactatgcagaaacctGacaaagtcgaagacggatta	18	6	9	8	2	0	4	0	1	0	3	1	6	0	5	1	1	3	1	1	1	6	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:88965672G>C	ENST00000333190.4	+	4	3985	c.3376G>C	c.(3376-3378)Gac>Cac	p.D1126H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1126						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCAGAAACCTGACAAAGTCGA	0.338										HNSCC(36;0.09)			7	82					0	0	0	0	C	88965672	G	C	88965672	3	2	210	1	0	0	0	0	1	0	0	0	18264	1290	45	2	3390	2	ZNF804B	7	88965672	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	590	88965672	70172991	320	37556											
GTPBP10	85865	broad.mit.edu	37	chr7	89982159	89982159	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatcgataagctaagactCttcaccaggggaggatccgg	11	9	11	10	2	3	1	2	0	1	1	5	4	4	3	2	4	1	1	2	4	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:89982159C>G	ENST00000222511.6	+	2	129	c.63C>G	c.(61-63)ctC>ctG	p.L21L	GTPBP10_ENST00000257659.8_Silent_p.L21L	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	21					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AGCTAAGACTCTTCACCAGGG	0.393											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	63					0	0	0	0	G	89982159	C	G	89982159	2	3	210	1	0	0	0	0	0	0	0	1	6929	900	32	2		2	GTPBP10	7	89982159	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1016487	89982159	69156504	321	37557											
GATAD1	57798	broad.mit.edu	37	chr7	92085756	92085756	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgcaccttctgagtatttCaagtcacggtcatcaccatt	10	13	6	12	1	5	1	4	1	1	0	5	1	5	1	2	1	1	2	2	1	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:92085756C>G	ENST00000287957.3	+	5	967	c.690C>G	c.(688-690)ttC>ttG	p.F230L		NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	230							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGAGTATTTCAAGTCACGGT	0.453													9	150					0	0	0	0	G	92085756	C	G	92085756	3	3	210	1	0	0	0	0	1	0	0	0	6308	825	29	2	708	2	GATAD1	7	92085756	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2103597	92085756	67052907	322	37558											
COL1A2	1278	broad.mit.edu	37	chr7	94052383	94052383	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtaggtgcagttggtcccCctggcttcgctggtgagaag	7	10	15	9	1	0	1	0	1	0	1	2	2	1	1	2	4	1	5	2	4	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:94052383C>A	ENST00000297268.6	+	40	2989	c.2518C>A	c.(2518-2520)Cct>Act	p.P840T		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	840			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGTTGGTCCCCCTGGCTTCGC	0.527										HNSCC(75;0.22)			72	105					1.03218e-28	2.57092e-28	1	0	A	94052383	C	A	94052383	3	1	210	1	0	0	0	0	1	0	0	0	3708	623	22	4	2676	4	COL1A2	7	94052383	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1966627	94052383	65086280	323	37559											
ASB4	51666	broad.mit.edu	37	chr7	95157454	95157454	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgctcatgcacatgatgctgGaagctggcgccgaagccaat	10	8	12	11	2	1	1	1	1	0	0	1	3	1	2	2	2	5	4	2	2	3	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:95157454G>C	ENST00000325885.5	+	3	888	c.817G>C	c.(817-819)Gaa>Caa	p.E273Q	ASB4_ENST00000428113.1_Missense_Mutation_p.E273Q	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	273					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CATGATGCTGGAAGCTGGCGC	0.562											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	60					0	0	0	0	C	95157454	G	C	95157454	3	2	210	1	0	0	0	0	1	0	0	0	1029	1175	41	2	827	2	ASB4	7	95157454	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1105071	95157454	63981209	324	37560											
SHFM1	7979	broad.mit.edu	37	chr7	96318251	96318251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatgctatgaagtctccatCttataaccatgtttctctag	10	15	7	9	0	3	1	0	1	3	0	5	2	3	2	2	1	2	2	2	1	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:96318251C>G	ENST00000248566.2	-	3	325	c.198G>C	c.(196-198)aaG>aaC	p.K66N	SHFM1_ENST00000417009.1_Intron|SHFM1_ENST00000413065.1_Intron|SHFM1_ENST00000444799.1_Intron	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	66					proteolysis	proteasome complex	peptidase activity|protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					AAGTCTCCATCTTATAACCAT	0.333								Homologous recombination					6	74					0	0	0	0	G	96318251	C	G	96318251	3	3	210	1	0	0	0	0	1	0	0	0	14366	912	32	2	18	2	SHFM1	7	96318251	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1160797	96318251	62820412	325	37561											
TECPR1	25851	broad.mit.edu	37	chr7	97851742	97851742	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atccccggtagaaggcggagCcgtcccttgccacggcccac	7	5	12	17	4	0	1	0	0	0	1	2	2	2	2	6	4	2	1	6	4	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:97851742C>G	ENST00000447648.2	-	22	3319	c.3020G>C	c.(3019-3021)gGc>gCc	p.G1007A	TECPR1_ENST00000379795.3_Missense_Mutation_p.G1009A|TECPR1_ENST00000479975.1_5'UTR			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1007						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAGGCGGAGCCGTCCCTTGC	0.677													3	9					0	0	0	0	G	97851742	C	G	97851742	3	3	210	1	0	0	0	0	1	0	0	0	15837	739	26	4	497	4	TECPR1	7	97851742	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1533491	97851742	61286921	326	37562											
ZNF394	84124	broad.mit.edu	37	chr7	99092065	99092065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagtccttctgcttcaggaGaattttcaagtttcaggggc	8	14	11	8	0	4	2	3	1	1	1	5	3	5	2	1	3	1	2	1	3	2	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:99092065G>A	ENST00000337673.6	-	3	976	c.773C>T	c.(772-774)tCt>tTt	p.S258F	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	258					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGCTTCAGGAGAATTTTCAAG	0.483													9	146					0	0	0	0	A	99092065	G	A	99092065	3	1	210	1	0	0	0	0	1	0	0	0	17975	942	33	2	916	2	ZNF394	7	99092065	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1240323	99092065	60046598	327	37563											
STAG3	10734	broad.mit.edu	37	chr7	99779813	99779813	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacgaccaccgaaaacaacaCcggtgagtcagccagttttc	14	6	8	13	3	1	1	1	1	0	0	2	3	1	1	4	1	4	1	4	1	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:99779813C>A	ENST00000426455.1	+	3	624	c.217C>A	c.(217-219)Ccg>Acg	p.P73T	STAG3_ENST00000394018.2_Missense_Mutation_p.P73T|STAG3_ENST00000317296.5_Missense_Mutation_p.P73T			Q9UJ98	STAG3_HUMAN	stromal antigen 3	73					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAAACAACACCGGTGAGTCA	0.502													10	33					0.000442599	0.000856344	1	0	A	99779813	C	A	99779813	3	1	210	1	0	0	0	0	1	0	0	0	15334	507	18	4	223	4	STAG3	7	99779813	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	687748	99779813	59358850	328	37564											
LRCH4	4034	broad.mit.edu	37	chr7	100175789	100175789	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggacgcccttacctcatttCcagaccacctcttgctgcca	8	10	6	17	1	2	1	1	0	1	1	3	2	3	2	6	1	3	1	6	1	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:100175789C>G	ENST00000310300.6	-	7	993	c.941G>C	c.(940-942)gGa>gCa	p.G314A	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	314					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TACCTCATTTCCAGACCACCT	0.592													21	35					0	0	0	0	G	100175789	C	G	100175789	3	3	210	1	0	0	0	0	1	0	0	0	8999	855	30	2	1158	2	LRCH4	7	100175789	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	395976	100175789	58962874	329	37565											
GNB2	2783	broad.mit.edu	37	chr7	100276365	100276365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagctgcctcggggtcaccGacgatggcatggctgtggcc	5	8	16	12	3	1	1	1	1	0	0	2	3	1	1	3	5	2	3	3	5	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:100276365G>A	ENST00000303210.4	+	10	1446	c.964G>A	c.(964-966)Gac>Aac	p.D322N	GNB2_ENST00000436220.1_Missense_Mutation_p.D278N|GNB2_ENST00000427895.1_Missense_Mutation_p.D222N|GNB2_ENST00000393924.1_Missense_Mutation_p.D322N|GNB2_ENST00000424361.1_Missense_Mutation_p.D278N|GNB2_ENST00000393926.1_Missense_Mutation_p.D322N|GNB2_ENST00000419828.1_Missense_Mutation_p.D222N	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	322					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CGGGGTCACCGACGATGGCAT	0.657													9	91					0	0	0	0	A	100276365	G	A	100276365	3	1	210	1	0	0	0	0	1	0	0	0	6568	1058	37	1	998	1	GNB2	7	100276365	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	100576	100276365	58862298	330	37566											
MUC17	140453	broad.mit.edu	37	chr7	100685079	100685079	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaggaagcactccattatCaattatgcctctcagtacca	13	11	6	11	0	2	1	2	1	1	0	4	2	3	2	3	1	3	2	3	1	6	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:100685079C>G	ENST00000306151.4	+	3	10446	c.10382C>G	c.(10381-10383)tCa>tGa	p.S3461*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3461	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCATTATCAATTATGCCT	0.502													156	439					0	0	0	0	G	100685079	C	G	100685079	4	3	210	1	0	0	0	0	0	1	0	0	10044	838	29	2	10392	2	MUC17	7	100685079	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	408714	100685079	58453584	331	37567											
CUX1	1523	broad.mit.edu	37	chr7	101843412	101843412	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgaagccatcaagtccatCctagagcaagccaagaggga	15	5	11	10	0	1	3	1	1	0	2	3	5	3	4	4	1	3	1	4	1	5	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:101843412C>G	ENST00000360264.3	+	17	2075	c.2055C>G	c.(2053-2055)atC>atG	p.I685M	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.I652M|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.I674M|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.I572M|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292538.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	674					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCAAGTCCATCCTAGAGCAAG	0.483													8	90					0	0	0	0	G	101843412	C	G	101843412	3	3	210	1	0	0	0	0	1	0	0	0	4096	845	30	2	2155	2	CUX1	7	101843412	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1158333	101843412	57295251	332	37568											
RELN	5649	broad.mit.edu	37	chr7	103138678	103138678	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtttgatttcttcactgtCaaagcgttccttcaggaaag	10	14	9	8	1	4	1	3	1	1	0	5	2	5	2	1	2	1	2	1	2	2	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:103138678C>G	ENST00000428762.1	-	54	8848	c.8689G>C	c.(8689-8691)Gac>Cac	p.D2897H	RELN_ENST00000343529.5_Missense_Mutation_p.D2897H|RELN_ENST00000424685.2_Missense_Mutation_p.D2897H|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2897					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTTCACTGTCAAAGCGTTCC	0.373													6	71					0	0	0	0	G	103138678	C	G	103138678	3	3	210	1	0	0	0	0	1	0	0	0	13302	826	29	2	1741	2	RELN	7	103138678	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1295266	103138678	55999985	333	37569											
ATXN7L1	222255	broad.mit.edu	37	chr7	105516849	105516849	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtgtaatttggcggcGtcgatccaggaggaccaggg	9	7	17	8	3	0	0	0	0	0	0	2	4	1	2	2	5	1	2	2	5	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:105516849G>T	ENST00000419735.3	-	1	201	c.156C>A	c.(154-156)gaC>gaA	p.D52E	ATXN7L1_ENST00000318724.4_Missense_Mutation_p.D52E|ATXN7L1_ENST00000478915.1_Missense_Mutation_p.D24E	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	52										endometrium(1)|large_intestine(4)|lung(5)	10						ATTTGGCGGCGTCGATCCAGG	0.527													8	12					5.18039e-06	1.05844e-05	1	0	T	105516849	G	T	105516849	3	4	210	1	0	0	0	0	1	0	0	0	1220	1136	40	3	2570	3	ATXN7L1	7	105516849	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2378171	105516849	53621814	334	37570											
PIK3CG	5294	broad.mit.edu	37	chr7	106509407	106509407	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctattatgtgaacctgctGctgatagaccaccgtttcct	8	14	7	12	1	1	3	0	2	1	1	2	3	2	3	4	0	3	3	4	0	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:106509407G>T	ENST00000359195.3	+	2	1711	c.1401G>T	c.(1399-1401)ctG>ctT	p.L467L	PIK3CG_ENST00000440650.2_Silent_p.L467L|PIK3CG_ENST00000496166.1_Silent_p.L467L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	467					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGAACCTGCTGCTGATAGACC	0.532													32	62					5.6714e-07	1.18787e-06	1	0	T	106509407	G	T	106509407	2	4	210	1	0	0	0	0	0	0	0	1	11988	1306	46	4		4	PIK3CG	7	106509407	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	992558	106509407	52629256	335	37571											
SLC26A4	5172	broad.mit.edu	37	chr7	107340590	107340590	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctattttctatggcaatgtCgatggttttaaaaaatgtat	12	17	7	5	1	1	0	0	0	1	0	2	1	1	0	1	2	0	3	1	2	7	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:107340590C>T	ENST00000265715.3	+	15	1901	c.1677C>T	c.(1675-1677)gtC>gtT	p.V559V	SLC26A4_ENST00000543100.1_Silent_p.V128V|SLC26A4_ENST00000541474.1_Silent_p.V120V|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Silent_p.V146V	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	559	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATGGCAATGTCGATGGTTTTA	0.308									Pendred syndrome				14	27					0	0	0	0	T	107340590	C	T	107340590	2	4	210	1	0	0	0	0	0	0	0	1	14607	871	31	1		1	SLC26A4	7	107340590	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	831183	107340590	51798073	336	37572											
CHRM2	1129	broad.mit.edu	37	chr7	136699801	136699801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaacaattactttttattCagcttggcctgtgctgacct	8	16	7	10	0	2	1	2	1	0	0	2	1	2	1	2	1	4	2	2	1	4	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:136699801C>G	ENST00000445907.2	+	3	717	c.189C>G	c.(187-189)ttC>ttG	p.F63L	CHRM2_ENST00000401861.1_Missense_Mutation_p.F63L|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.F63L|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.F63L|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.F63L|CHRM2_ENST00000402486.3_Missense_Mutation_p.F63L	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	63					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACTTTTTATTCAGCTTGGCCT	0.468													12	122					0	0	0	0	G	136699801	C	G	136699801	3	3	210	1	0	0	0	0	1	0	0	0	3406	825	29	2	191	2	CHRM2	7	136699801	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	29359211	136699801	22438862	337	37573											
BRAF	673	broad.mit.edu	37	chr7	140449137	140449137	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taactgtccagtcatcaattCatacagaacaattccaaatg	16	11	4	10	0	3	1	3	0	0	1	5	1	5	1	2	0	3	0	2	0	6	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:140449137C>G	ENST00000288602.6	-	16	2002	c.1942G>C	c.(1942-1944)Gaa>Caa	p.E648Q		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	648	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTCATCAATTCATACAGAACA	0.363		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				8	38					0	0	0	0	G	140449137	C	G	140449137	3	3	210	1	0	0	0	0	1	0	0	0	1504	835	29	2	370	2	BRAF	7	140449137	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3749336	140449137	18689526	338	37574											
AGK	55750	broad.mit.edu	37	chr7	141315363	141315363	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgaaagtggaaacaaagtCcagtaggttgtcaatgtggg	13	8	14	6	1	1	0	1	0	0	0	2	2	2	1	2	3	1	2	2	3	5	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:141315363C>A	ENST00000355413.4	+	8	776	c.516C>A	c.(514-516)gtC>gtA	p.V172V	AGK_ENST00000473247.1_Silent_p.V144V|AGK_ENST00000535825.1_Silent_p.V169V	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	172	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GAAACAAAGTCCAGTAGGTTG	0.438													18	153					5.01169e-05	9.97213e-05	1	0	A	141315363	C	A	141315363	2	1	210	1	0	0	0	0	0	0	0	1	383	842	30	2		2	AGK	7	141315363	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	866226	141315363	17823300	339	37575											
TAS2R38	5726	broad.mit.edu	37	chr7	141673226	141673226	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcttggtagctgtggttCagtggttcactcaacttctg	6	15	12	8	0	4	0	3	0	1	0	4	0	4	0	0	4	2	5	0	4	2	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:141673226C>T	ENST00000547270.1	-	1	347	c.264G>A	c.(262-264)ctG>ctA	p.L88L		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	88					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGCTGTGGTTCAGTGGTTCAC	0.527													12	140					0	0	0	0	T	141673226	C	T	141673226	2	4	210	1	0	0	0	0	0	0	0	1	15666	813	29	2		2	TAS2R38	7	141673226	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	357863	141673226	17465437	340	37576											
MGAM	8972	broad.mit.edu	37	chr7	141736654	141736654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcctcctttggagctgactCcctgctgttgaattcctcca	5	14	8	14	0	0	2	0	2	0	0	4	3	4	3	5	1	3	3	5	1	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:141736654C>T	ENST00000475668.2	+	18	2162	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	MGAM_ENST00000549489.2_Missense_Mutation_p.S703F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	703	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGAGCTGACTCCCTGCTGTTG	0.532													15	217					0	0	0	0	T	141736654	C	T	141736654	3	4	210	1	0	0	0	0	1	0	0	0	9610	855	30	2	2174	2	MGAM	7	141736654	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	63428	141736654	17402009	341	37577											
OR6B1	135946	broad.mit.edu	37	chr7	143701434	143701434	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagaatgtgtgcttctGgccgccatggcctatgaccg	7	10	12	12	2	1	2	0	1	1	1	1	2	1	2	4	2	2	2	4	2	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:143701434G>C	ENST00000408922.2	+	1	413	c.345G>C	c.(343-345)ctG>ctC	p.L115L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GTGTGCTTCTGGCCGCCATGG	0.498													29	58					0	0	0	0	C	143701434	G	C	143701434	2	2	210	1	0	0	0	0	0	0	0	1	11258	1335	47	4		4	OR6B1	7	143701434	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1964780	143701434	15437229	342	37578											
ARHGEF5	7984	broad.mit.edu	37	chr7	144060360	144060360	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccagaatgaaggctctGaaagtgggactatcaggcag	14	6	12	9	0	2	3	1	2	1	1	2	4	2	4	2	3	1	2	2	3	5	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:144060360G>T	ENST00000056217.5	+	2	772	c.598G>T	c.(598-600)Gaa>Taa	p.E200*		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	200					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGAAGGCTCTGAAAGTGGGAC	0.522													16	518					1.3612e-06	2.82736e-06	1	0	T	144060360	G	T	144060360	4	4	210	1	0	0	0	0	0	1	0	0	911	1291	45	2	600	2	ARHGEF5	7	144060360	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	358926	144060360	15078303	343	37579											
LPL	4023	broad.mit.edu	37	chr8	19811807	19811807	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccgaatggaggtacttttCagccaggatgtaacattgga	12	10	11	8	1	1	0	1	0	0	0	1	4	1	3	2	4	3	2	2	4	3	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:19811807C>T	ENST00000311322.8	+	5	1188	c.718C>T	c.(718-720)Cag>Tag	p.Q240*		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	240					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	p.Q240*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	AGGTACTTTTCAGCCAGGATG	0.443													12	56					0	0	0	0	T	19811807	C	T	19811807	4	4	210	1	0	0	0	0	0	1	0	0	8985	827	29	2	736	2	LPL	8	19811807	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08		19811807	126552215	344	37580											
TEX15	56154	broad.mit.edu	37	chr8	30702709	30702709	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcatttaaaaagtgcttCacatttgaatctaagactga	16	13	6	6	0	3	4	2	2	1	2	3	4	3	4	0	0	1	1	0	0	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:30702709C>G	ENST00000256246.2	-	1	3899	c.3825G>C	c.(3823-3825)gtG>gtC	p.V1275V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1275										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAAAGTGCTTCACATTTGAAT	0.358													13	34					0	0	0	0	G	30702709	C	G	30702709	2	3	210	1	0	0	0	0	0	0	0	1	15873	813	29	2		2	TEX15	8	30702709	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	10890902	30702709	115661313	345	37581											
PRKDC	5591	broad.mit.edu	37	chr8	48697804	48697804	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatgttggtaatgtcgttGaagtcactgagcttcattct	9	15	10	7	1	3	2	2	2	1	0	4	2	3	2	0	1	2	5	0	1	2	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:48697804G>A	ENST00000314191.2	-	78	11030	c.10974C>T	c.(10972-10974)ttC>ttT	p.F3658F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.F3658F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3659					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAATGTCGTTGAAGTCACTGA	0.363								Non-homologous end-joining					6	32					0	0	0	0	A	48697804	G	A	48697804	2	1	210	1	0	0	0	0	0	0	0	1	12601	1281	45	2		2	PRKDC	8	48697804	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	17995095	48697804	97666218	346	37582											
MOS	4342	broad.mit.edu	37	chr8	57026507	57026507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatggggaaaactcgctcCggaggtaggggcgtagggcc	8	5	18	10	4	0	0	0	0	0	0	2	3	1	2	3	7	1	3	3	7	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:57026507C>A	ENST00000311923.1	-	1	34	c.35G>T	c.(34-36)cGg>cTg	p.R12L		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	12							ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AAACTCGCTCCGGAGGTAGGG	0.677													7	32					0.00307968	0.00578596	1	0	A	57026507	C	A	57026507	3	1	210	1	0	0	0	0	1	0	0	0	9782	652	23	3	1008	3	MOS	8	57026507	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	8328703	57026507	89337515	347	37583											
TOX	9760	broad.mit.edu	37	chr8	59872534	59872534	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacatagtcctggctcggctCtgtcatgctcatatacatgt	8	13	8	12	1	3	0	2	0	1	0	5	0	4	0	1	2	2	3	1	2	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:59872534C>G	ENST00000361421.1	-	2	356	c.136G>C	c.(136-138)Gag>Cag	p.E46Q		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	46						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TGGCTCGGCTCTGTCATGCTC	0.388													3	55					0	0	0	0	G	59872534	C	G	59872534	3	3	210	1	0	0	0	0	1	0	0	0	16472	922	32	2	1476	2	TOX	8	59872534	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2846027	59872534	86491488	348	37584											
EYA1	2138	broad.mit.edu	37	chr8	72127676	72127676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatacaattcctaacccatAcagcaggactttcgccaatg	15	9	5	12	1	0	0	0	0	0	0	2	1	1	1	3	1	4	1	3	1	6	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:72127676A>G	ENST00000340726.3	-	16	2182	c.1543T>C	c.(1543-1545)Tat>Cat	p.Y515H	EYA1_ENST00000388743.2_Missense_Mutation_p.Y514H|EYA1_ENST00000388741.2_Missense_Mutation_p.Y481H|EYA1_ENST00000303824.7_Missense_Mutation_p.Y509H|EYA1_ENST00000419131.1_Missense_Mutation_p.Y480H|EYA1_ENST00000388740.3_Missense_Mutation_p.Y482H|EYA1_ENST00000388742.4_Missense_Mutation_p.Y515H	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	515					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCTAACCCATACAGCAGGACT	0.348													42	68					0	0	0	0	G	72127676	A	G	72127676	3	3	210	1	0	0	0	0	1	0	0	0	5366	391	14	5	247	5	EYA1	8	72127676	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	12255142	72127676	74236346	349	37585											
KCNB2	9312	broad.mit.edu	37	chr8	73849296	73849296	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagcctgagaggccatctgCatatgaagaagagattgaaa	17	7	11	6	0	1	5	0	3	1	3	1	7	1	5	2	1	2	1	2	1	5	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:73849296C>G	ENST00000523207.1	+	3	2294	c.1706C>G	c.(1705-1707)gCa>gGa	p.A569G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	569					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGGCCATCTGCATATGAAGAA	0.507													7	78					0	0	0	0	G	73849296	C	G	73849296	3	3	210	1	0	0	0	0	1	0	0	0	8066	710	25	4	1712	4	KCNB2	8	73849296	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1721620	73849296	72514726	350	37586											
ZFHX4	79776	broad.mit.edu	37	chr8	77617387	77617387	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttctactacaaacctcatagGacccgatccaaccttccgcg	11	9	5	16	3	2	0	1	0	1	0	4	2	4	1	5	1	4	0	5	1	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:77617387G>C	ENST00000521891.2	+	2	1512	c.1064G>C	c.(1063-1065)gGa>gCa	p.G355A	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G355A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G355A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G355A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	355						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACCTCATAGGACCCGATCCA	0.448										HNSCC(33;0.089)			13	98					0	0	0	0	C	77617387	G	C	77617387	3	2	210	1	0	0	0	0	1	0	0	0	17730	1174	41	2	1066	2	ZFHX4	8	77617387	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3768091	77617387	68746635	351	37587											
ZFHX4	79776	broad.mit.edu	37	chr8	77765696	77765696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaacactggtttagaaataCgctttttaaggaacgacaga	16	10	8	7	2	0	2	0	0	0	2	0	4	0	3	0	2	3	2	0	2	6	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:77765696C>G	ENST00000521891.2	+	10	6987	c.6539C>G	c.(6538-6540)aCg>aGg	p.T2180R	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2135R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2154R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2135R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2135						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T2164M(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTAGAAATACGCTTTTTAAG	0.373										HNSCC(33;0.089)			55	90					0	0	0	0	G	77765696	C	G	77765696	3	3	210	1	0	0	0	0	1	0	0	0	17730	536	19	3	6573	3	ZFHX4	8	77765696	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	148309	77765696	68598326	352	37588											
RUNX1T1	862	broad.mit.edu	37	chr8	92983035	92983035	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagacacggccttctgcaGctccgtcatcgcctggcgct	5	9	10	17	4	3	1	2	0	1	1	5	1	4	1	3	2	2	3	3	2	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:92983035G>C	ENST00000523629.1	-	11	1844	c.1390C>G	c.(1390-1392)Ctg>Gtg	p.L464V	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.L427V|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.L437V|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.L475V|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.L437V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.L427V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.L464V|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.L427V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	464					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)			GCCTTCTGCAGCTCCGTCATC	0.597													3	49					0	0	0	0	C	92983035	G	C	92983035	3	2	210	1	0	0	0	0	1	0	0	0	13832	962	34	4	432	4	RUNX1T1	8	92983035	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	15217339	92983035	53380987	353	37589											
ESRP1	54845	broad.mit.edu	37	chr8	95680467	95680467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcaggagcacagcagctGaagttcagcaggttggtttt	9	12	12	8	0	3	1	2	1	1	0	3	2	3	2	0	3	4	7	0	3	1	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:95680467G>A	ENST00000433389.2	+	10	1412	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	ESRP1_ENST00000423620.2_Missense_Mutation_p.E408K|ESRP1_ENST00000454170.2_Missense_Mutation_p.E408K|ESRP1_ENST00000358397.5_Missense_Mutation_p.E408K	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	408					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CACAGCAGCTGAAGTTCAGCA	0.373													8	55					0	0	0	0	A	95680467	G	A	95680467	3	1	210	1	0	0	0	0	1	0	0	0	5296	1291	45	2	1260	2	ESRP1	8	95680467	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2697432	95680467	50683555	354	37590											
MTERFD1	51001	broad.mit.edu	37	chr8	97270606	97270606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctagaaacagctcagaatCaaagctggatatattttgtg	14	13	8	6	0	3	2	2	0	1	2	3	3	3	3	0	1	3	2	0	1	6	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:97270606C>G	ENST00000523821.1	-	2	432	c.313G>C	c.(313-315)Gat>Cat	p.D105H	MTERFD1_ENST00000287025.3_Missense_Mutation_p.D105H			Q96E29	MTER1_HUMAN	MTERF domain containing 1	105					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AGCTCAGAATCAAAGCTGGAT	0.413													6	36					0	0	0	0	G	97270606	C	G	97270606	3	3	210	1	0	0	0	0	1	0	0	0	9989	826	29	2	968	2	MTERFD1	8	97270606	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1590139	97270606	49093416	355	37591											
OXR1	55074	broad.mit.edu	37	chr8	107715290	107715290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caatgtacaaagaaattttgGatagcaaaataaaggaatct	20	10	7	4	0	1	1	0	0	1	1	1	3	1	3	0	2	2	2	0	2	10	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:107715290G>A	ENST00000445937.1	+	8	1093	c.832G>A	c.(832-834)Gat>Aat	p.D278N	OXR1_ENST00000531443.1_Missense_Mutation_p.D278N|OXR1_ENST00000312046.6_Missense_Mutation_p.D271N|OXR1_ENST00000497705.1_Missense_Mutation_p.D211N|OXR1_ENST00000517566.2_Missense_Mutation_p.D278N|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000442977.2_Missense_Mutation_p.D279N	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	279					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGAAATTTTGGATAGCAAAAT	0.353													17	27					0	0	0	0	A	107715290	G	A	107715290	3	1	210	1	0	0	0	0	1	0	0	0	11405	1174	41	2	1061	2	OXR1	8	107715290	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	10444684	107715290	38648732	356	37592											
OXR1	55074	broad.mit.edu	37	chr8	107763141	107763141	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaagatttctttatccAagatattgaaatctgggctt	13	14	9	5	0	2	3	0	1	2	2	3	5	3	4	1	2	0	1	1	2	6	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:107763141A>G	ENST00000445937.1	+	16	2774	c.2513A>G	c.(2512-2514)cAa>cGa	p.Q838R	OXR1_ENST00000521592.1_Missense_Mutation_p.Q111R|OXR1_ENST00000449762.2_Missense_Mutation_p.Q208R|OXR1_ENST00000531443.1_Missense_Mutation_p.Q838R|OXR1_ENST00000312046.6_Missense_Mutation_p.Q831R|OXR1_ENST00000517566.2_Missense_Mutation_p.Q865R|OXR1_ENST00000452423.2_Missense_Mutation_p.Q286R|OXR1_ENST00000442977.2_Missense_Mutation_p.Q866R|OXR1_ENST00000297447.6_Missense_Mutation_p.Q235R	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	866	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTCTTTATCCAAGATATTGAA	0.388													18	58					0	0	0	0	G	107763141	A	G	107763141	3	3	210	1	0	0	0	0	1	0	0	0	11405	130	5	5	2774	5	OXR1	8	107763141	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	47851	107763141	38600881	357	37593											
TRHR	7201	broad.mit.edu	37	chr8	110100017	110100017	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatctacggttcctgggtCtatggctatgttggatgcct	6	15	12	8	1	2	0	0	0	2	0	3	1	3	1	2	4	2	4	2	4	4	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:110100017C>A	ENST00000518632.1	+	2	627	c.276C>A	c.(274-276)gtC>gtA	p.V92V	TRHR_ENST00000311762.2_Silent_p.V92V			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	92						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTTCCTGGGTCTATGGCTATG	0.483													43	83					3.05275e-18	7.41381e-18	1	0	A	110100017	C	A	110100017	2	1	210	1	0	0	0	0	0	0	0	1	16575	900	32	2		2	TRHR	8	110100017	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2336876	110100017	36264005	358	37594											
NUDCD1	84955	broad.mit.edu	37	chr8	110293364	110293364	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagccgtatggttactgtCaaatcatcttcagtctgttg	9	14	10	8	1	5	0	3	0	2	0	5	1	5	1	1	2	2	3	1	2	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:110293364C>G	ENST00000239690.4	-	6	1235	c.861G>C	c.(859-861)ttG>ttC	p.L287F	NUDCD1_ENST00000427660.2_Missense_Mutation_p.L258F	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	287	CS.									breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TGGTTACTGTCAAATCATCTT	0.363													4	51					0	0	0	0	G	110293364	C	G	110293364	3	3	210	1	0	0	0	0	1	0	0	0	10793	825	29	2	910	2	NUDCD1	8	110293364	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	193347	110293364	36070658	359	37595											
PKHD1L1	93035	broad.mit.edu	37	chr8	110420425	110420425	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccactcactctatggtcatCagaagctgaagtacggtgta	11	10	10	10	1	4	2	3	1	1	1	4	2	4	2	1	2	2	3	1	2	5	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:110420425C>G	ENST00000378402.5	+	18	2065	c.1961C>G	c.(1960-1962)tCa>tGa	p.S654*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	654					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTATGGTCATCAGAAGCTGAA	0.448										HNSCC(38;0.096)			10	37					0	0	0	0	G	110420425	C	G	110420425	4	3	210	1	0	0	0	0	0	1	0	0	12044	838	29	2	2031	2	PKHD1L1	8	110420425	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	127061	110420425	35943597	360	37596											
KCNV1	27012	broad.mit.edu	37	chr8	110984839	110984839	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaagataatggagatgacGccaaagatacgggcagctgt	15	6	13	7	3	0	4	0	1	0	3	0	6	0	4	1	2	2	2	1	2	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:110984839G>T	ENST00000524391.1	-	3	1671	c.639C>A	c.(637-639)ggC>ggA	p.G213G	KCNV1_ENST00000297404.1_Silent_p.G213G			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	213						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGGAGATGACGCCAAAGATAC	0.522													25	32					2.39556e-15	5.73821e-15	1	0	T	110984839	G	T	110984839	2	4	210	1	0	0	0	0	0	0	0	1	8147	1074	38	3		3	KCNV1	8	110984839	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	564414	110984839	35379183	361	37597											
CSMD3	114788	broad.mit.edu	37	chr8	113243846	113243846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatacataagtagctccatCaggctcagcagaaacctaaa	18	7	6	10	0	2	1	2	0	0	1	3	1	3	1	2	1	4	4	2	1	7	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:113243846C>T	ENST00000297405.5	-	69	11000	c.10756G>A	c.(10756-10758)Gat>Aat	p.D3586N	CSMD3_ENST00000343508.3_Missense_Mutation_p.D3546N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D3417N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D3516N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3586						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAGCTCCATCAGGCTCAGCA	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	122					0	0	0	0	T	113243846	C	T	113243846	3	4	210	1	0	0	0	0	1	0	0	0	3978	826	29	2	379	2	CSMD3	8	113243846	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2259007	113243846	33120176	362	37598											
CSMD3	114788	broad.mit.edu	37	chr8	113562955	113562955	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaaaatccgtgtcaaactgGatggttactatattgagggt	13	13	10	5	1	1	1	1	1	0	0	2	2	2	2	1	3	2	1	1	3	7	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:113562955G>T	ENST00000297405.5	-	27	4753	c.4509C>A	c.(4507-4509)atC>atA	p.I1503I	CSMD3_ENST00000343508.3_Silent_p.I1463I|CSMD3_ENST00000455883.2_Silent_p.I1399I|CSMD3_ENST00000352409.3_Silent_p.I1503I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1503	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTCAAACTGGATGGTTACTA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	75					5.4927e-09	1.19179e-08	1	0	T	113562955	G	T	113562955	2	4	210	1	0	0	0	0	0	0	0	1	3978	1164	41	2		2	CSMD3	8	113562955	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	319109	113562955	32801067	363	37599											
EXT1	2131	broad.mit.edu	37	chr8	118849376	118849376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggaatctgaaggaccCaagcctgcgaccacgaggaa	13	4	11	13	2	1	1	0	1	1	0	2	6	2	4	4	3	2	0	4	3	4	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:118849376C>A	ENST00000378204.2	-	2	1833	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	343					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTGAAGGACCCAAGCCTGCGA	0.493			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				16	153					1.01871e-10	2.29276e-10	1	0	A	118849376	C	A	118849376	3	1	210	1	0	0	0	0	1	0	0	0	5361	594	21	4	1253	4	EXT1	8	118849376	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	5286421	118849376	27514646	364	37600											
COL14A1	7373	broad.mit.edu	37	chr8	121295907	121295907	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaggattgccctccgactAcacaatcagttttctattcc	11	12	6	12	1	2	1	1	0	1	1	4	3	4	2	3	1	2	1	3	1	4	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:121295907A>G	ENST00000297848.3	+	32	4127	c.3857A>G	c.(3856-3858)tAc>tGc	p.Y1286C	COL14A1_ENST00000247781.3_Missense_Mutation_p.Y1191C|COL14A1_ENST00000309791.4_Missense_Mutation_p.Y1286C	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1286	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCCTCCGACTACACAATCAGT	0.393													41	93					0	0	0	0	G	121295907	A	G	121295907	3	3	210	1	0	0	0	0	1	0	0	0	3701	391	14	5	3979	5	COL14A1	8	121295907	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	2446531	121295907	25068115	365	37601											
FAM135B	51059	broad.mit.edu	37	chr8	139263149	139263149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accgagatcacagacaggtgGaaatagtcgaacatgaccgg	15	5	12	9	3	1	3	1	1	0	2	2	6	1	4	2	3	1	0	2	3	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:139263149G>T	ENST00000395297.1	-	6	647	c.477C>A	c.(475-477)ttC>ttA	p.F159L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	159										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGACAGGTGGAAATAGTCGA	0.592										HNSCC(54;0.14)			24	138					2.52088e-20	6.16488e-20	1	0	T	139263149	G	T	139263149	3	4	210	1	0	0	0	0	1	0	0	0	5490	1165	41	2	3803	2	FAM135B	8	139263149	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	17967242	139263149	7100873	366	37602											
COL22A1	169044	broad.mit.edu	37	chr8	139729092	139729092	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctccaggtcggcctgccagGccctgctccccaatttctcc	4	10	8	19	1	2	0	0	0	2	0	6	0	3	0	7	3	2	1	7	3	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:139729092G>A	ENST00000303045.6	-	28	2822	c.2376C>T	c.(2374-2376)ggC>ggT	p.G792G	COL22A1_ENST00000435777.1_Silent_p.G792G|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	792	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCCTGCCAGGCCCTGCTCCC	0.393										HNSCC(7;0.00092)			13	47					0	0	0	0	A	139729092	G	A	139729092	2	1	210	1	0	0	0	0	0	0	0	1	3711	1190	42	4		4	COL22A1	8	139729092	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	465943	139729092	6634930	367	37603											
COL22A1	169044	broad.mit.edu	37	chr8	139790645	139790645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagtccaggtggtccttggGgcccctgcagaagagcattt	7	9	15	10	0	0	2	0	0	0	2	2	3	2	3	4	5	2	2	4	5	1	2	rs149741596	by1000genomes	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:139790645G>T	ENST00000303045.6	-	15	2155	c.1709C>A	c.(1708-1710)cCc>cAc	p.P570H	COL22A1_ENST00000435777.1_Missense_Mutation_p.P570H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	570	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGTCCTTGGGGCCCCTGCAG	0.562										HNSCC(7;0.00092)			7	30					0.00448238	0.00839428	1	0	T	139790645	G	T	139790645	3	4	210	1	0	0	0	0	1	0	0	0	3711	1232	43	4	3375	4	COL22A1	8	139790645	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	61553	139790645	6573377	368	37604											
LY6K	54742	broad.mit.edu	37	chr8	143783130	143783130	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactgcgttatagcggccgtGagtgagtatcttcgctcttg	6	14	12	9	4	2	2	0	2	2	0	3	2	2	2	1	1	3	3	1	1	4	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:143783130G>C	ENST00000292430.6	+	2	633	c.217_splice	c.e2+1	p.V72_splice	LY6K_ENST00000518841.1_Splice_Site_p.V72_splice|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000561179.1_Splice_Site_p.V130_splice|LY6K_ENST00000522591.1_Silent_p.V72V|LY6K_ENST00000519387.1_Splice_Site_p.V72_splice			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	72	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TAGCGGCCGTGAGTGAGTATC	0.483													3	16					0	0	0	0	C	143783130	G	C	143783130	5	2	210	1	0	0	0	0	0	0	1	0	9163	1304	45	2	222	2	LY6K	8	143783130	Splice_Site	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3992485	143783130	2580892	369	37605											
VPS28	51160	broad.mit.edu	37	chr8	145649363	145649363	+	Frame_Shift_Del	DEL	C	C	-																															ctcaggggcactgcggggctCcgcctggctgggagggtctc																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:145649363delC	ENST00000377348.2	-	9	698	c.609delG	c.(607-609)cgfs	p.R203fs	VPS28_ENST00000292510.4_Intron|VPS28_ENST00000529182.1_Frame_Shift_Del_p.R203fs|VPS28_ENST00000526054.1_Intron	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	0	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTGCGGGGCTCCGCCTGGCTG	0.706													22	80	---	---	---	---					-	145649363	C	-	145649363	7	5	210	1	0	1	0	1	0	0	0	0	17295	842	30	0	178	0	VPS28	8	145649363	Frame_Shift_Del	DEL	C	TCGA-CR-7388-01A-11D-2012-08	1866233	145649363	714659	370	37606											
ARHGAP39	80728	broad.mit.edu	37	chr8	145773627	145773627	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcggggagctgctccctggGagctcggccctcttcaggaa	6	7	15	13	2	2	0	1	0	1	0	4	3	3	3	2	5	4	3	2	5	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:145773627G>A	ENST00000276826.5	-	4	1044	c.843C>T	c.(841-843)ctC>ctT	p.L281L	ARHGAP39_ENST00000540274.1_Silent_p.L281L|ARHGAP39_ENST00000377307.2_Silent_p.L281L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	281	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGCTCCCTGGGAGCTCGGCCC	0.692													5	18					0	0	0	0	A	145773627	G	A	145773627	2	1	210	1	0	0	0	0	0	0	0	1	886	1161	41	2		2	ARHGAP39	8	145773627	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	124264	145773627	590395	371	37607											
KIAA1432	57589	broad.mit.edu	37	chr9	5754839	5754839	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaaaaaatttttattttaAggagcaaaatatgatcgtga	17	16	6	2	1	0	2	0	2	0	0	1	3	0	3	0	1	1	1	0	1	8	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:5754839A>T	ENST00000414202.2	+	15	1793		c.e15-1		KIAA1432_ENST00000381532.2_Splice_Site|KIAA1432_ENST00000251879.6_Splice_Site|KIAA1432_ENST00000418622.3_Splice_Site|KIAA1432_ENST00000449720.2_Splice_Site	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432							integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ttttattttaaGGAGCAAAAT	0.294													6	16					0	0	0	0	T	5754839	A	T	5754839	5	4	210	1	0	0	0	0	0	0	1	0	8284	86	3	5	1418	5	KIAA1432	9	5754839	Splice_Site	SNP	A	TCGA-CR-7388-01A-11D-2012-08		5754839	135458592	372	37608											
PTPRD	5789	broad.mit.edu	37	chr9	8517884	8517884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttgtatgtcacttgaaaGgggaccatctccaattgagg	11	11	11	8	0	2	2	1	2	1	0	3	4	2	3	2	3	0	1	2	3	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:8517884G>T	ENST00000381196.4	-	18	2050	c.1507C>A	c.(1507-1509)Ctt>Att	p.L503I	PTPRD_ENST00000537002.1_Missense_Mutation_p.L500I|PTPRD_ENST00000486161.1_Missense_Mutation_p.L503I|PTPRD_ENST00000360074.4_Missense_Mutation_p.L490I|PTPRD_ENST00000356435.5_Missense_Mutation_p.L503I|PTPRD_ENST00000355233.5_Missense_Mutation_p.L503I|PTPRD_ENST00000397606.3_Missense_Mutation_p.L493I|PTPRD_ENST00000397617.3_Missense_Mutation_p.L493I|PTPRD_ENST00000358503.5_Missense_Mutation_p.L490I|PTPRD_ENST00000397611.3_Missense_Mutation_p.L500I|PTPRD_ENST00000540109.1_Missense_Mutation_p.L503I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	503	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCACTTGAAAGGGGACCATCT	0.468										TSP Lung(15;0.13)			15	44					5.35267e-07	1.12246e-06	1	0	T	8517884	G	T	8517884	3	4	210	1	0	0	0	0	1	0	0	0	12881	1000	35	4	4403	4	PTPRD	9	8517884	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2763045	8517884	132695547	373	37609											
FAM154A	158297	broad.mit.edu	37	chr9	18928826	18928826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcatgcacaaagcgcttctCcacggggtgggccacatagc	9	8	11	13	2	2	0	1	0	1	0	3	0	2	0	2	3	3	2	2	3	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:18928826C>T	ENST00000380534.4	-	4	928	c.649G>A	c.(649-651)Gag>Aag	p.E217K	FAM154A_ENST00000542071.1_Missense_Mutation_p.E25K|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	217										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AAGCGCTTCTCCACGGGGTGG	0.512													9	51					0	0	0	0	T	18928826	C	T	18928826	3	4	210	1	0	0	0	0	1	0	0	0	5504	864	30	2	779	2	FAM154A	9	18928826	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	10410942	18928826	122284605	374	37610											
ACO1	48	broad.mit.edu	37	chr9	32418476	32418476	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggcacagactcgcacactAccatgattgatggcttgggc	9	9	12	11	1	0	3	0	2	0	1	1	3	0	3	1	3	1	3	1	3	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:32418476A>G	ENST00000379923.1	+	7	831	c.625A>G	c.(625-627)Acc>Gcc	p.T209A	ACO1_ENST00000309951.5_Missense_Mutation_p.T209A|ACO1_ENST00000541043.1_Missense_Mutation_p.T110A	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	209					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CTCGCACACTACCATGATTGA	0.433													42	140					0	0	0	0	G	32418476	A	G	32418476	3	3	210	1	0	0	0	0	1	0	0	0	146	391	14	5	643	5	ACO1	9	32418476	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	13489650	32418476	108794955	375	37611											
ACO1	48	broad.mit.edu	37	chr9	32420929	32420929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcccagttgtccattgctGaccgagctacgattgctaac	9	11	9	12	2	0	1	0	1	0	0	1	3	1	1	3	0	6	4	3	0	3	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:32420929G>A	ENST00000379923.1	+	9	1080	c.874G>A	c.(874-876)Gac>Aac	p.D292N	ACO1_ENST00000309951.5_Missense_Mutation_p.D292N|ACO1_ENST00000541043.1_Missense_Mutation_p.D193N	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	292					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GTCCATTGCTGACCGAGCTAC	0.502													9	163					0	0	0	0	A	32420929	G	A	32420929	3	1	210	1	0	0	0	0	1	0	0	0	146	1290	45	2	900	2	ACO1	9	32420929	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2453	32420929	108792502	376	37612											
TLN1	7094	broad.mit.edu	37	chr9	35707190	35707190	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggctgtctggatgagtcCcccggcactctctaacattg	6	10	11	14	2	2	1	0	1	2	0	4	2	3	2	3	3	1	2	3	3	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:35707190C>G	ENST00000314888.9	-	37	5187	c.4834G>C	c.(4834-4836)Gga>Cga	p.G1612R	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.G1612R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1612	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGATGAGTCCCCCGGCACTC	0.637													11	48					0	0	0	0	G	35707190	C	G	35707190	3	3	210	1	0	0	0	0	1	0	0	0	16041	632	22	4	2875	4	TLN1	9	35707190	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3286261	35707190	105506241	377	37613											
TLN1	7094	broad.mit.edu	37	chr9	35716451	35716451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcagcacttaagagcttgCgggagttctccagatcactt	9	11	11	10	1	2	2	1	0	1	2	3	3	2	3	1	2	3	4	1	2	1	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:35716451C>A	ENST00000314888.9	-	20	2914	c.2561G>T	c.(2560-2562)cGc>cTc	p.R854L	TLN1_ENST00000540444.1_Missense_Mutation_p.R854L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	854					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAAGAGCTTGCGGGAGTTCTC	0.567													22	86					1.96292e-10	4.40651e-10	1	0	A	35716451	C	A	35716451	3	1	210	1	0	0	0	0	1	0	0	0	16041	768	27	3	5216	3	TLN1	9	35716451	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	9261	35716451	105496980	378	37614											
NPR2	4882	broad.mit.edu	37	chr9	35801681	35801681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggctagcatgttgtggcGtattcgctgggaagaactgc	7	11	15	8	2	0	1	0	0	0	1	1	2	0	2	0	3	3	6	0	3	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:35801681G>T	ENST00000342694.2	+	8	1733	c.1478G>T	c.(1477-1479)cGt>cTt	p.R493L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	493					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATGTTGTGGCGTATTCGCTGG	0.552													23	45					1.64293e-13	3.87184e-13	1	0	T	35801681	G	T	35801681	3	4	210	1	0	0	0	0	1	0	0	0	10666	1145	40	3	1508	3	NPR2	9	35801681	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	85230	35801681	105411750	379	37615											
FRMPD1	22844	broad.mit.edu	37	chr9	37740292	37740292	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtgccgagtccgaggcGtccgactcagccaacactga	10	5	12	14	4	1	1	1	1	0	0	3	5	3	1	4	1	3	0	4	1	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:37740292G>T	ENST00000539465.1	+	15	2360	c.1767G>T	c.(1765-1767)gcG>gcT	p.A589A	FRMPD1_ENST00000541302.1_Silent_p.A458A|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.A589A|FRMPD1_ENST00000536622.1_Silent_p.A411A			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	589						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGTCCGAGGCGTCCGACTCAG	0.647													8	37					0.000157383	0.000307222	1	0	T	37740292	G	T	37740292	2	4	210	1	0	0	0	0	0	0	0	1	6105	1132	40	3		3	FRMPD1	9	37740292	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1938611	37740292	103473139	380	37616											
TMEM2	23670	broad.mit.edu	37	chr9	74360399	74360399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatagcggcatttttctgctCcaatatgaagcgccccacca	10	11	7	13	2	1	1	0	1	1	0	2	1	2	1	4	1	3	2	4	1	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:74360399C>A	ENST00000377044.4	-	4	1108	c.569G>T	c.(568-570)gGa>gTa	p.G190V	TMEM2_ENST00000377066.5_Missense_Mutation_p.G190V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	190	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TTTTTCTGCTCCAATATGAAG	0.413													34	62					1.26612e-14	3.01219e-14	1	0	A	74360399	C	A	74360399	3	1	210	1	0	0	0	0	1	0	0	0	16215	855	30	2	3666	2	TMEM2	9	74360399	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	36620107	74360399	66853032	381	37617											
TLE4	7091	broad.mit.edu	37	chr9	82227616	82227616	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctatctgtgcacaagtcattCctttcctgtcccaagaggta	9	13	7	12	0	2	1	1	0	1	1	5	1	5	1	3	1	1	2	3	1	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:82227616C>G	ENST00000376520.4	+	5	1126	c.298C>G	c.(298-300)Cct>Gct	p.P100A	TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.P100A|TLE4_ENST00000376544.3_Missense_Mutation_p.P100A|TLE4_ENST00000376537.4_Missense_Mutation_p.P100A|TLE4_ENST00000376552.2_Missense_Mutation_p.P100A|TLE4_ENST00000376534.4_5'UTR			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACAAGTCATTCCTTTCCTGTC	0.418													6	88					0	0	0	0	G	82227616	C	G	82227616	3	3	210	1	0	0	0	0	1	0	0	0	16035	855	30	2	316	2	TLE4	9	82227616	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	7867217	82227616	58985815	382	37618											
GKAP1	80318	broad.mit.edu	37	chr9	86414160	86414160	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtgaatccttctgtactggGtttgacaatggaagatcatg	10	13	11	7	1	2	3	1	2	1	1	3	4	3	4	1	2	1	2	1	2	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:86414160G>C	ENST00000376371.2	-	4	700	c.300C>G	c.(298-300)aaC>aaG	p.N100K	GKAP1_ENST00000376365.3_Missense_Mutation_p.N100K	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	100					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TCTGTACTGGGTTTGACAATG	0.363													35	134					0	0	0	0	C	86414160	G	C	86414160	3	2	210	1	0	0	0	0	1	0	0	0	6474	1252	44	4	840	4	GKAP1	9	86414160	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	4186544	86414160	54799271	383	37619											
KIF27	55582	broad.mit.edu	37	chr9	86452160	86452160	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcatctgtttctgttttaTtctcattacctaacatatgc	9	20	3	9	0	4	0	2	0	3	0	5	0	4	0	1	0	3	2	1	0	5	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:86452160T>C	ENST00000297814.2	-	18	4105	c.3962A>G	c.(3961-3963)aAt>aGt	p.N1321S	RP11-575L7.2_ENST00000417672.1_RNA|RP11-575L7.2_ENST00000412069.1_RNA|RP11-575L7.2_ENST00000439378.3_RNA|RP11-575L7.2_ENST00000458016.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.N1255S|RP11-575L7.4_ENST00000591217.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.N1224S	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1321					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTCTGTTTTATTCTCATTACC	0.418													24	24					0	0	0	0	C	86452160	T	C	86452160	3	2	210	1	0	0	0	0	1	0	0	0	8347	1493	52	5	247	5	KIF27	9	86452160	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	38000	86452160	54761271	384	37620											
PTCH1	5727	broad.mit.edu	37	chr9	98270530	98270530	+	Frame_Shift_Del	DEL	C	C	-																															ggcgcggcagcacggcgcagCccccccgtccgtctgcgcct																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:98270530delC	ENST00000331920.6	-	1	413	c.114delG	c.(112-114)ggfs	p.G38fs	PTCH1_ENST00000437951.1_Intron|PTCH1_ENST00000430669.2_Intron|PTCH1_ENST00000468211.2_Intron|PTCH1_ENST00000375274.2_Intron	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	38					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CACGGCGCAGCCCCCCCGTCC	0.736													8	17	---	---	---	---					-	98270530	C	-	98270530	7	5	210	1	0	1	0	1	0	0	0	0	12809	726	26	0	4321	0	PTCH1	9	98270530	Frame_Shift_Del	DEL	C	TCGA-CR-7388-01A-11D-2012-08	11818370	98270530	42942901	385	37621											
ALDOB	229	broad.mit.edu	37	chr9	104187801	104187801	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catagctacttgttctggagTatacttcttggtgcaggcat	8	15	10	8	0	2	0	0	0	2	0	2	1	2	1	0	3	4	5	0	3	4	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:104187801T>A	ENST00000374855.4	-	7	857	c.733A>T	c.(733-735)Act>Tct	p.T245S		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	245					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TGTTCTGGAGTATACTTCTTG	0.507													22	78					0	0	0	0	A	104187801	T	A	104187801	3	1	210	1	0	0	0	0	1	0	0	0	508	1638	57	5	373	5	ALDOB	9	104187801	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	5917271	104187801	37025630	386	37622											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899231	112899231	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaatcctggcattgcAgcaaaatggtggaatccccc	14	7	10	10	0	0	2	0	0	0	2	2	3	2	3	3	3	2	3	3	3	6	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:112899231A>G	ENST00000374530.3	+	8	1587	c.1407A>G	c.(1405-1407)gcA>gcG	p.A469A	AKAP2_ENST00000374525.1_Silent_p.A327A|AKAP2_ENST00000510514.5_Silent_p.A469A|AKAP2_ENST00000555236.1_Silent_p.A469A|PALM2-AKAP2_ENST00000302798.7_Silent_p.A469A|AKAP2_ENST00000259318.7_Silent_p.A238A|AKAP2_ENST00000434623.2_Silent_p.A327A	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		238							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTGGCATTGCAGCAAAATGGT	0.522													12	39					0	0	0	0	G	112899231	A	G	112899231	2	3	210	1	0	0	0	0	0	0	0	1	11481	175	7	5		5	PALM2-AKAP2	9	112899231	Silent	SNP	A	TCGA-CR-7388-01A-11D-2012-08	8711430	112899231	28314200	387	37623											
SVEP1	79987	broad.mit.edu	37	chr9	113208279	113208279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcatgacatatccatagatgCcagaaacttcaaaatccagg	16	8	7	10	0	1	3	1	1	0	2	3	3	3	3	3	1	2	1	3	1	5	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:113208279C>G	ENST00000401783.2	-	26	4637	c.4301G>C	c.(4300-4302)gGc>gCc	p.G1434A	SVEP1_ENST00000302728.8_Missense_Mutation_p.G1434A|SVEP1_ENST00000374469.1_Missense_Mutation_p.G1411A|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1434	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCCATAGATGCCAGAAACTTC	0.423													4	28					0	0	0	0	G	113208279	C	G	113208279	3	3	210	1	0	0	0	0	1	0	0	0	15510	739	26	4	6506	4	SVEP1	9	113208279	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	309048	113208279	28005152	388	37624											
RC3H2	54542	broad.mit.edu	37	chr9	125643074	125643074	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatctcttttggtaacCtaaaaaatagaaaagagaaa	18	12	5	6	0	3	2	1	0	2	2	4	3	3	2	1	1	1	1	1	1	8	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:125643074C>A	ENST00000373670.1	-	5	1360		c.e5-1		RC3H2_ENST00000335387.5_Splice_Site|RC3H2_ENST00000373665.2_Splice_Site|RC3H2_ENST00000357244.2_Splice_Site|RC3H2_ENST00000423239.2_Splice_Site			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2							cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTTTGGTAACCTAAAAAATAG	0.388													4	23					0.00024832	0.000484196	1	0	A	125643074	C	A	125643074	5	1	210	1	0	0	0	0	0	0	1	0	13249	695	24	4	2958	4	RC3H2	9	125643074	Splice_Site	SNP	C	TCGA-CR-7388-01A-11D-2012-08	12434795	125643074	15570357	389	37625											
HSPA5	3309	broad.mit.edu	37	chr9	127998972	127998972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgaacaatttcttccagttCcttcttcttagctttgaagt	8	19	5	9	0	3	2	0	2	3	0	5	2	5	2	2	0	2	2	2	0	4	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:127998972C>T	ENST00000324460.6	-	8	2067	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	622					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TCTTCCAGTTCCTTCTTCTTA	0.418										Prostate(1;0.17)			32	47					0	0	0	0	T	127998972	C	T	127998972	3	4	210	1	0	0	0	0	1	0	0	0	7466	864	30	2	104	2	HSPA5	9	127998972	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2355898	127998972	13214459	390	37626											
CDK9	1025	broad.mit.edu	37	chr9	130551532	130551532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccagaagcggaaggtgaagGacaggctgaaggcctatgtg	12	5	17	7	1	0	3	0	2	0	1	0	5	0	5	2	5	1	1	2	5	5	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:130551532G>A	ENST00000373265.2	+	7	1180	c.1180G>A	c.(1180-1182)Gac>Aac	p.D394N	CDK9_ENST00000373264.4_Missense_Mutation_p.D277N			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	277					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						GAAGGTGAAGGACAGGCTGAA	0.602													12	31					0	0	0	0	A	130551532	G	A	130551532	3	1	210	1	0	0	0	0	1	0	0	0	3180	1174	41	2	855	2	CDK9	9	130551532	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2552560	130551532	10661899	391	37627											
PHYHD1	254295	broad.mit.edu	37	chr9	131704027	131704027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagccctcgcccctcccGggtgaagctgtgggctgtaa	6	7	14	14	2	0	1	0	1	0	0	2	2	1	2	4	3	2	3	4	3	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:131704027G>T	ENST00000308941.5	+	12	1309	c.889G>T	c.(889-891)Ggg>Tgg	p.G297W	PHYHD1_ENST00000421063.2_3'UTR|PHYHD1_ENST00000353176.5_3'UTR|RP11-101E3.5_ENST00000482796.1_Intron|PHYHD1_ENST00000372592.3_3'UTR	NM_174933.3	NP_777593.2			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						CGCCCCTCCCGGGTGAAGCTG	0.612													11	20					2.27111e-07	4.79122e-07	1	0	T	131704027	G	T	131704027	3	4	210	1	0	0	0	0	1	0	0	0	11937	1116	39	3	953	3	PHYHD1	9	131704027	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1152495	131704027	9509404	392	37628											
PRRX2	51450	broad.mit.edu	37	chr9	132482945	132482945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggccagccgctctgcctCgctgctcaagtcctacagcc	5	8	10	18	2	2	0	1	0	1	0	4	0	3	0	5	1	5	4	5	1	2	1	rs144448846		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:132482945C>T	ENST00000372469.4	+	3	745	c.518C>T	c.(517-519)tCg>tTg	p.S173L		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	173						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				CGCTCTGCCTCGCTGCTCAAG	0.662													17	96					0	0	0	0	T	132482945	C	T	132482945	3	4	210	1	0	0	0	0	1	0	0	0	12692	893	31	1	528	1	PRRX2	9	132482945	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	778918	132482945	8730486	393	37629											
LAMC3	10319	broad.mit.edu	37	chr9	133945219	133945219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcaatgtccgtcctgctaCgccctggtgaaggaggaggt	8	8	14	11	2	0	1	0	1	0	0	2	3	2	3	3	4	3	2	3	4	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:133945219C>T	ENST00000361069.4	+	17	3184	c.3051C>T	c.(3049-3051)taC>taT	p.Y1017Y	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1017	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGTCCTGCTACGCCCTGGTGA	0.587													3	5					0	0	0	0	T	133945219	C	T	133945219	2	4	210	1	0	0	0	0	0	0	0	1	8669	547	19	1		1	LAMC3	9	133945219	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1462274	133945219	7268212	394	37630											
NUP214	8021	broad.mit.edu	37	chr9	134073156	134073156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggatcctctggggtcatCagttttggtgggacatctct	6	13	13	9	0	4	0	2	0	2	0	6	2	5	2	1	5	0	2	1	5	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:134073156C>G	ENST00000359428.5	+	29	4419	c.4275C>G	c.(4273-4275)atC>atG	p.I1425M	NUP214_ENST00000451030.1_Missense_Mutation_p.I1426M|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000411637.2_Missense_Mutation_p.I1415M|NUP214_ENST00000483497.2_Missense_Mutation_p.I251M			P35658	NU214_HUMAN	nucleoporin 214kDa	1425	11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTGGGGTCATCAGTTTTGGTG	0.537			T	"DEK, SET, ABL1"	"AML, T-ALL"								17	102					0	0	0	0	G	134073156	C	G	134073156	3	3	210	1	0	0	0	0	1	0	0	0	10833	816	29	2	4389	2	NUP214	9	134073156	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	127937	134073156	7140275	395	37631			1	58		3	3	404	C		5.372428e-05
NUP214	8021	broad.mit.edu	37	chr9	134073548	134073548	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caactctggcactgcagcatCtagtactagtcttgtagcac	10	11	8	12	0	3	0	0	0	3	0	3	0	3	0	0	1	5	6	0	1	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:134073548C>G	ENST00000359428.5	+	29	4811	c.4667C>G	c.(4666-4668)tCt>tGt	p.S1556C	NUP214_ENST00000451030.1_Missense_Mutation_p.S1557C|NUP214_ENST00000411637.2_Missense_Mutation_p.S1546C|NUP214_ENST00000483497.2_Missense_Mutation_p.S382C			P35658	NU214_HUMAN	nucleoporin 214kDa	1556	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ACTGCAGCATCTAGTACTAGT	0.557			T	"DEK, SET, ABL1"	"AML, T-ALL"								10	65					0	0	0	0	G	134073548	C	G	134073548	3	3	210	1	0	0	0	0	1	0	0	0	10833	913	32	2	4781	2	NUP214	9	134073548	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	392	134073548	7139883	396	37632			1	58		3	3	404	C		5.372428e-05
NUP214	8021	broad.mit.edu	37	chr9	134073559	134073559	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcatctagtactagtCttgtagcactttctgcagag	9	13	9	10	0	3	1	0	0	3	1	3	1	3	1	0	0	5	6	0	0	4	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:134073559C>A	ENST00000359428.5	+	29	4822	c.4678C>A	c.(4678-4680)Ctt>Att	p.L1560I	NUP214_ENST00000451030.1_Missense_Mutation_p.L1561I|NUP214_ENST00000411637.2_Missense_Mutation_p.L1550I|NUP214_ENST00000483497.2_Missense_Mutation_p.L386I			P35658	NU214_HUMAN	nucleoporin 214kDa	1560	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAGTACTAGTCTTGTAGCACT	0.562			T	"DEK, SET, ABL1"	"AML, T-ALL"								9	63					5.4927e-09	1.19179e-08	1	0	A	134073559	C	A	134073559	3	1	210	1	0	0	0	0	1	0	0	0	10833	913	32	2	4792	2	NUP214	9	134073559	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	11	134073559	7139872	397	37633			1	58		3	3	404	C		5.372428e-05
SEC16A	9919	broad.mit.edu	37	chr9	139371758	139371758	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggggctcacagggtccctGagagctatctctggcatgtg	7	9	14	11	0	2	1	1	1	1	1	4	2	3	1	1	4	1	3	1	4	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:139371758G>A	ENST00000313050.7	-	1	383	c.310C>T	c.(310-312)Cag>Tag	p.Q104*		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2068					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CAGGGTCCCTGAGAGCTATCT	0.592													11	93					0	0	0	0	A	139371758	G	A	139371758	4	1	210	1	0	0	0	0	0	1	0	0	14073	1299	45	2	6883	2	SEC16A	9	139371758	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	5298199	139371758	1841673	398	37634											
ITGA8	8516	broad.mit.edu	37	chr10	15686196	15686196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctctttgatccttgcctGcaaaaggcactccgatggca	8	11	9	13	1	1	1	0	1	1	0	3	2	3	1	4	2	3	3	4	2	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:15686196G>A	ENST00000378076.3	-	13	1585	c.1232C>T	c.(1231-1233)gCa>gTa	p.A411V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	411					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATCCTTGCCTGCAAAAGGCAC	0.393													13	22					0	0	0	0	A	15686196	G	A	15686196	3	1	210	1	0	0	0	0	1	0	0	0	7935	1319	46	4	2031	4	ITGA8	10	15686196	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08		15686196	119848551	399	37635											
NSUN6	221078	broad.mit.edu	37	chr10	18885189	18885189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccctccaggtgctgcaCacaagtctagaatcttctct	8	14	6	13	0	3	1	0	0	3	1	6	1	5	1	2	1	2	2	2	1	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:18885189C>T	ENST00000377304.4	-	7	1143	c.725G>A	c.(724-726)tGt>tAt	p.C242Y		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	242	S-adenosyl-L-methionine binding (By similarity).						methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AGGTGCTGCACACAAGTCTAG	0.388													11	52					0	0	0	0	T	18885189	C	T	18885189	3	4	210	1	0	0	0	0	1	0	0	0	10753	478	17	4	704	4	NSUN6	10	18885189	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3198993	18885189	116649558	400	37636											
ARHGAP12	94134	broad.mit.edu	37	chr10	32101646	32101646	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctaccaacctttaatataaCctttttcacgaacagcttgc	12	13	3	13	1	1	0	1	0	0	0	1	1	1	0	4	0	6	1	4	0	6	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:32101646C>G	ENST00000375250.5	-	13	2091	c.1850G>C	c.(1849-1851)gGt>gCt	p.G617A	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.G595A|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.G595A|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.G642A|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.G647A	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	647					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TTTAATATAACCTTTTTCACG	0.308													6	47					0	0	0	0	G	32101646	C	G	32101646	3	3	210	1	0	0	0	0	1	0	0	0	867	507	18	4	624	4	ARHGAP12	10	32101646	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	13216457	32101646	103433101	401	37637											
MAPK8	5599	broad.mit.edu	37	chr10	49633957	49633957	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcagtggaataaagttattGaacagcttggaacaccatgt	15	11	9	6	0	1	1	1	1	0	0	1	3	1	3	1	2	3	2	1	2	6	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:49633957G>C	ENST00000374189.1	+	8	896	c.715G>C	c.(715-717)Gaa>Caa	p.E239Q	MAPK8_ENST00000374182.3_Missense_Mutation_p.E239Q|MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000360332.3_Missense_Mutation_p.E239Q			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	239	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TAAAGTTATTGAACAGCTTGG	0.318													3	39					0	0	0	0	C	49633957	G	C	49633957	3	2	210	1	0	0	0	0	1	0	0	0	9352	1291	45	2	817	2	MAPK8	10	49633957	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	17532311	49633957	85900790	402	37638											
CSTF2T	23283	broad.mit.edu	37	chr10	53458085	53458085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatctctaccacctctacCatccataggtagaccccttt	11	11	4	15	0	2	2	0	0	2	2	4	2	3	2	6	1	2	1	6	1	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:53458085C>A	ENST00000331173.4	-	1	1270	c.1225G>T	c.(1225-1227)Ggt>Tgt	p.G409C	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	409	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CCACCTCTACCATCCATAGGT	0.522													25	115					2.12542e-12	4.94894e-12	1	0	A	53458085	C	A	53458085	3	1	210	1	0	0	0	0	1	0	0	0	4017	594	21	4	629	4	CSTF2T	10	53458085	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3824128	53458085	82076662	403	37639											
CCDC6	8030	broad.mit.edu	37	chr10	61592413	61592413	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctttctcatgctgcaacTggaaaatgaaaaacaccgag	14	8	9	10	2	1	1	1	1	1	0	2	3	1	2	1	2	4	3	1	2	5	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:61592413T>A	ENST00000263102.6	-	3	685		c.e3-2			NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6							cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		ATGCTGCAACTGGAAAATGAA	0.398			T	RET	NSCLC								6	28					0	0	0	0	A	61592413	T	A	61592413	5	1	210	1	0	0	0	0	0	0	1	0	2857	1594	55	5	1000	5	CCDC6	10	61592413	Splice_Site	SNP	T	TCGA-CR-7388-01A-11D-2012-08	8134328	61592413	73942334	404	37640											
CCDC6	8030	broad.mit.edu	37	chr10	61666097	61666097	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caccgccgccgcccgaggtcGacgagcaggacgactgcatg	8	3	14	16	7	0	0	0	0	0	0	1	5	0	1	4	2	2	2	4	2	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:61666097G>C	ENST00000263102.6	-	1	317	c.86C>G	c.(85-87)tCg>tGg	p.S29W		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	29						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		gccCGAGGTCGACGAGCAGGA	0.756			T	RET	NSCLC								5	41					0	0	0	0	C	61666097	G	C	61666097	3	2	210	1	0	0	0	0	1	0	0	0	2857	1059	37	3	1374	3	CCDC6	10	61666097	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	73684	61666097	73868650	405	37641											
LRRTM3	347731	broad.mit.edu	37	chr10	68687295	68687295	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgctggcatgatcagactCaaagaacttcacctggagca	12	10	9	10	0	3	3	3	1	0	2	3	4	3	4	1	2	3	3	1	2	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:68687295C>G	ENST00000361320.4	+	2	1199	c.621C>G	c.(619-621)ctC>ctG	p.L207L	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	207						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGATCAGACTCAAAGAACTTC	0.458													10	120					0	0	0	0	G	68687295	C	G	68687295	2	3	210	1	0	0	0	0	0	0	0	1	9105	813	29	2		2	LRRTM3	10	68687295	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	7021198	68687295	66847452	406	37642											
RUFY2	55680	broad.mit.edu	37	chr10	70164518	70164518	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagtgcggccaaagctcaGagcagattcaatgagtcctt	13	8	10	10	1	2	3	2	1	0	2	3	3	3	3	2	1	3	2	2	1	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:70164518G>C	ENST00000388768.2	-	2	519	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000342616.4_Missense_Mutation_p.L30V|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Missense_Mutation_p.L30V|RUFY2_ENST00000602465.1_Missense_Mutation_p.L30V	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	79						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						CCAAAGCTCAGAGCAGATTCA	0.428													8	38					0	0	0	0	C	70164518	G	C	70164518	3	2	210	1	0	0	0	0	1	0	0	0	13824	933	33	2	1913	2	RUFY2	10	70164518	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1477223	70164518	65370229	407	37643											
ANXA7	310	broad.mit.edu	37	chr10	75156946	75156946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggaacctgtgctggacCacctccataagactgtgaag	11	9	11	10	0	0	2	0	1	0	1	1	4	1	4	4	2	2	1	4	2	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:75156946C>A	ENST00000372921.4	-	4	402	c.346G>T	c.(346-348)Ggt>Tgt	p.G116C	ANXA7_ENST00000535178.1_Intron|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	116	Repeat-rich region.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TGTGCTGGACCACCTCCATAA	0.463													6	25					0.00307968	0.00578596	1	0	A	75156946	C	A	75156946	3	1	210	1	0	0	0	0	1	0	0	0	722	594	21	4	1164	4	ANXA7	10	75156946	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4992428	75156946	60377801	408	37644											
POLR3A	11128	broad.mit.edu	37	chr10	79784811	79784811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcagtcctcgcttctgaagGtaggtcaggccgggcctctt	5	12	12	12	2	4	1	2	1	2	0	6	1	5	1	3	4	0	2	3	4	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:79784811G>A	ENST00000372371.3	-	4	545	c.408C>T	c.(406-408)taC>taT	p.Y136Y		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	136					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCTTCTGAAGGTAGGTCAGGC	0.463													18	83					0	0	0	0	A	79784811	G	A	79784811	2	1	210	1	0	0	0	0	0	0	0	1	12300	1256	44	4		4	POLR3A	10	79784811	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	4627865	79784811	55749936	409	37645											
LRIT1	26103	broad.mit.edu	37	chr10	85991723	85991723	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttctcctgccccctttgactCcaaaggcctgaaagtccaca	9	10	6	16	0	1	2	0	2	1	0	4	2	3	2	6	1	1	0	6	1	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:85991723C>G	ENST00000372105.3	-	4	1853	c.1832G>C	c.(1831-1833)gGa>gCa	p.G611A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	611						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCCTTTGACTCCAAAGGCCTG	0.577													5	23					0	0	0	0	G	85991723	C	G	85991723	3	3	210	1	0	0	0	0	1	0	0	0	9011	855	30	2	43	2	LRIT1	10	85991723	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	6206912	85991723	49543024	410	37646											
OPN4	94233	broad.mit.edu	37	chr10	88416025	88416025	+	Frame_Shift_Del	DEL	G	G	-																															gtgggactcacggggatgctGggcaacctgacggtcatcta																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:88416025delG	ENST00000372071.2	+	2	485	c.258delG	c.(256-258)ctfs	p.L86fs	OPN4_ENST00000241891.5_Frame_Shift_Del_p.L86fs	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	86					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CGGGGATGCTGGGCAACCTGA	0.617													19	96	---	---	---	---					-	88416025	G	-	88416025	7	5	210	1	0	1	0	1	0	0	0	0	10953	1335	47	0	264	0	OPN4	10	88416025	Frame_Shift_Del	DEL	G	TCGA-CR-7388-01A-11D-2012-08	2424302	88416025	47118722	411	37647											
C10orf12	26148	broad.mit.edu	37	chr10	98741788	98741788	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacactggccagaaatttacActcccaggaaaaagcaagct	16	7	7	11	0	0	1	0	0	0	1	1	2	1	2	2	2	4	2	2	2	6	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:98741788A>T	ENST00000286067.2	+	1	748	c.641A>T	c.(640-642)cAc>cTc	p.H214L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	214										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGAAATTTACACTCCCAGGAA	0.458													20	94					0	0	0	0	T	98741788	A	T	98741788	3	4	210	1	0	0	0	0	1	0	0	0	1599	159	6	5	643	5	C10orf12	10	98741788	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	10325763	98741788	36792959	412	37648											
DUSP5	1847	broad.mit.edu	37	chr10	112269778	112269778	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttttcttccttccagActgtgtcagggaaaagggag	9	12	10	10	0	3	1	1	0	2	1	5	3	5	3	3	2	0	0	3	2	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:112269778A>T	ENST00000369583.3	+	4	1033	c.748_splice	c.e4-1	p.D250_splice	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	250	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		TTCCTTCCAGACTGTGTCAGG	0.483													8	68					0	0	0	0	T	112269778	A	T	112269778	5	4	210	1	0	0	0	0	0	0	1	0	4864	289	10	5	763	5	DUSP5	10	112269778	Splice_Site	SNP	A	TCGA-CR-7388-01A-11D-2012-08	13527990	112269778	23264969	413	37649											
TRUB1	142940	broad.mit.edu	37	chr10	116698023	116698023	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacaaaagtatggccgcttCtgaggcggcggtggtgtctt	7	11	14	9	3	2	1	0	1	2	0	2	1	2	1	1	5	1	2	1	5	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:116698023C>G	ENST00000298746.3	+	1	72	c.11C>G	c.(10-12)tCt>tGt	p.S4C		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	4					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ATGGCCGCTTCTGAGGCGGCG	0.572													5	51					0	0	0	0	G	116698023	C	G	116698023	3	3	210	1	0	0	0	0	1	0	0	0	16697	913	32	2	13	2	TRUB1	10	116698023	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4428245	116698023	18836724	414	37650											
ATRNL1	26033	broad.mit.edu	37	chr10	116853721	116853721	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaccggctcctgcttctCgggccgctgtgtcaactcca	5	9	12	15	3	2	0	1	0	1	0	5	2	4	1	4	3	2	3	4	3	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:116853721C>A	ENST00000355044.3	+	1	338	c.212C>A	c.(211-213)tCg>tAg	p.S71*	ATRNL1_ENST00000527407.1_Nonsense_Mutation_p.S71*|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	71	EGF-like 1.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCCTGCTTCTCGGGCCGCTGT	0.662													7	20					0.00198382	0.00375531	1	0	A	116853721	C	A	116853721	4	1	210	1	0	0	0	0	0	1	0	0	1211	893	31	3	214	3	ATRNL1	10	116853721	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	155698	116853721	18681026	415	37651											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118196325	118196325	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaccctggtctccagagaAgataaacactcgtttcctgc	10	12	7	12	1	1	2	0	0	1	2	4	3	2	2	3	1	3	1	3	1	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:118196325A>T	ENST00000369230.3	+	2	298	c.152A>T	c.(151-153)aAg>aTg	p.K51M		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	51					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCTCCAGAGAAGATAAACACT	0.403													13	82					0	0	0	0	T	118196325	A	T	118196325	3	4	210	1	0	0	0	0	1	0	0	0	12224	72	3	5	158	5	PNLIPRP3	10	118196325	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	1342604	118196325	17338422	416	37652											
EIF3A	8661	broad.mit.edu	37	chr10	120809438	120809438	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatttcttcacccgctcctGatactctcgtagctcttcct	6	16	4	15	2	4	1	1	1	3	0	7	1	6	1	3	0	2	3	3	0	3	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:120809438G>A	ENST00000369144.3	-	17	2660	c.2533C>T	c.(2533-2535)Cag>Tag	p.Q845*	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Nonsense_Mutation_p.Q811*	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	845	Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACCCGCTCCTGATACTCTCGT	0.493													11	176					0	0	0	0	A	120809438	G	A	120809438	4	1	210	1	0	0	0	0	0	1	0	0	5048	1299	45	2	1639	2	EIF3A	10	120809438	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2613113	120809438	14725309	417	37653											
SEC23IP	11196	broad.mit.edu	37	chr10	121689212	121689212	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcactattcgaggagttGataggatagatgagaattac	13	13	10	5	1	1	3	1	2	1	2	3	7	1	5	0	2	1	1	0	2	5	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:121689212G>C	ENST00000369075.3	+	14	2479	c.2407G>C	c.(2407-2409)Gat>Cat	p.D803H	SEC23IP_ENST00000543134.1_Missense_Mutation_p.D592H|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	803	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TCGAGGAGTTGATAGGATAGA	0.353													4	115					0	0	0	0	C	121689212	G	C	121689212	3	2	210	1	0	0	0	0	1	0	0	0	14080	1290	45	2	2461	2	SEC23IP	10	121689212	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	879774	121689212	13845535	418	37654											
DOCK1	1793	broad.mit.edu	37	chr10	129179577	129179577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgacctgcacaaggagtGtgataactacaccgaagcgg	12	7	12	10	2	0	2	0	2	0	0	0	4	0	3	2	2	4	1	2	2	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:129179577G>C	ENST00000280333.6	+	37	3798	c.3689G>C	c.(3688-3690)tGt>tCt	p.C1230S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1230	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CACAAGGAGTGTGATAACTAC	0.373													40	78					0	0	0	0	C	129179577	G	C	129179577	3	2	210	1	0	0	0	0	1	0	0	0	4720	1377	48	4	3835	4	DOCK1	10	129179577	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	7490365	129179577	6355170	419	37655											
MKI67	4288	broad.mit.edu	37	chr10	129906158	129906158	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caggtccagtttctgcactgGagttcccacaaatatgatga	11	11	9	10	0	1	2	0	2	1	0	3	3	3	3	2	2	1	3	2	2	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:129906158G>C	ENST00000368654.3	-	13	4321	c.3946C>G	c.(3946-3948)Cca>Gca	p.P1316A	MKI67_ENST00000368653.3_Missense_Mutation_p.P956A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1316	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCTGCACTGGAGTTCCCACA	0.507													23	275					0	0	0	0	C	129906158	G	C	129906158	3	2	210	1	0	0	0	0	1	0	0	0	9667	1174	41	2	5836	2	MKI67	10	129906158	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	726581	129906158	5628589	420	37656											
LRRC56	115399	broad.mit.edu	37	chr11	549902	549902	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaaccctgccttctgcagGgacttgggcacgtctctggg	6	9	12	14	1	2	0	0	0	2	0	3	1	2	1	3	3	3	2	3	3	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:549902G>T	ENST00000270115.7	+	7	827	c.326_splice	c.e7-1	p.R109_splice		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	109										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTCTGCAGGGACTTGGGCA	0.627													12	31					7.03913e-09	1.52355e-08	1	0	T	549902	G	T	549902	5	4	210	1	0	0	0	0	0	0	1	0	9076	1246	43	4	341	4	LRRC56	11	549902	Splice_Site	SNP	G	TCGA-CR-7388-01A-11D-2012-08		549902	134456614	421	37657											
EPS8L2	64787	broad.mit.edu	37	chr11	722485	722485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccgtggacttcctgcgcGgccacctggtccctaaggag	6	8	13	14	3	0	0	0	0	0	0	2	2	2	2	5	4	2	0	5	4	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:722485G>A	ENST00000533256.1	+	14	1519	c.1144G>A	c.(1144-1146)Ggc>Agc	p.G382S	EPS8L2_ENST00000530636.1_Missense_Mutation_p.G382S|EPS8L2_ENST00000526198.1_Missense_Mutation_p.G398S|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.G382S			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	382						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTCCTGCGCGGCCACCTGGT	0.662													9	31					0	0	0	0	A	722485	G	A	722485	3	1	210	1	0	0	0	0	1	0	0	0	5234	1116	39	1	1190	1	EPS8L2	11	722485	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	172583	722485	134284031	422	37658											
HBD	3045	broad.mit.edu	37	chr11	5254027	5254027	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggaaccttcttacacAcctggacaaaaaaatgaaat	17	8	5	11	0	2	1	1	1	1	0	2	3	2	3	3	2	2	0	3	2	6	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:5254027A>C	ENST00000292901.3	-	3	366	c.315_splice	c.e3-1	p.V106_splice				P02042	HBD_HUMAN	hemoglobin, delta	106					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCTTACACACCTGGACAAA	0.398													7	13					0	0	0	0	C	5254027	A	C	5254027	5	2	210	1	0	0	0	0	0	0	1	0	7029	174	6	5		5	HBD	11	5254027	Splice_Site	SNP	A	TCGA-CR-7388-01A-11D-2012-08	4531542	5254027	129752489	423	37659											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5656091	5656091	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaatggagctgctgcaGgtaagaaggttcgctcaatc	12	9	11	9	1	2	1	2	0	0	1	4	2	2	2	0	3	4	6	0	3	5	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:5656091G>C	ENST00000354852.5	+	10	1985	c.1812_splice	c.e10+1	p.Q604_splice	TRIM6-TRIM34_ENST00000457787.2_Splice_Site_p.Q250_splice|TRIM34_ENST00000514226.1_Splice_Site_p.Q250_splice|TRIM34_ENST00000429814.2_Splice_Site_p.Q250_splice|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000495668.1_3'UTR	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		604						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AGCTGCTGCAGGTAAGAAGGT	0.517													7	19					0	0	0	0	C	5656091	G	C	5656091	5	2	210	1	0	0	0	0	0	0	1	0	16629	1014	35	4	1850	4	TRIM6-TRIM34	11	5656091	Splice_Site	SNP	G	TCGA-CR-7388-01A-11D-2012-08	402064	5656091	129350425	424	37660											
TRIM22	10346	broad.mit.edu	37	chr11	5717502	5717502	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacatagagaaggaggtgAcctgccccatctgcctggag	11	7	13	10	0	1	3	0	1	1	2	1	6	1	5	4	3	2	0	4	3	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:5717502A>T	ENST00000379965.3	+	2	317	c.40A>T	c.(40-42)Acc>Tcc	p.T14S	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	14					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAAGGAGGTGACCTGCCCCAT	0.507													16	46					0	0	0	0	T	5717502	A	T	5717502	3	4	210	1	0	0	0	0	1	0	0	0	16591	275	10	5	42	5	TRIM22	11	5717502	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	61411	5717502	129289014	425	37661											
OR56B4	196335	broad.mit.edu	37	chr11	6129218	6129218	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtaccatttgctgggCatattagcagtggtggacat	9	12	11	9	0	0	0	0	0	0	0	0	1	0	1	2	3	3	4	2	3	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:6129218C>A	ENST00000316529.3	+	1	305	c.210C>A	c.(208-210)ggC>ggA	p.G70G		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTTGCTGGGCATATTAGCAG	0.502													11	34					3.86212e-05	7.69348e-05	1	0	A	6129218	C	A	6129218	2	1	210	1	0	0	0	0	0	0	0	1	11209	697	25	4		4	OR56B4	11	6129218	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	411716	6129218	128877298	426	37662											
FAM160A2	84067	broad.mit.edu	37	chr11	6239802	6239802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatacccgtgatgtcctccCttctccctgtctctctgcta	4	14	5	18	1	3	1	0	1	3	0	7	1	5	1	5	0	2	1	5	0	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:6239802C>T	ENST00000265978.4	-	8	1821	c.1463G>A	c.(1462-1464)aGg>aAg	p.R488K	FAM160A2_ENST00000449352.2_Intron|FAM160A2_ENST00000524416.1_Intron	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	479					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATGTCCTCCCTTCTCCCTGT	0.612													38	92					0	0	0	0	T	6239802	C	T	6239802	3	4	210	1	0	0	0	0	1	0	0	0	5510	681	24	4	1517	4	FAM160A2	11	6239802	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	110584	6239802	128766714	427	37663											
SYT9	143425	broad.mit.edu	37	chr11	7437333	7437333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttccaacggctggcaggCtgaccattaccattataaaa	13	10	7	11	1	1	1	0	1	1	0	2	1	2	1	3	3	2	3	3	3	5	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:7437333C>A	ENST00000318881.6	+	4	1342	c.1105C>A	c.(1105-1107)Ctg>Atg	p.L369M		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	369	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGCTGGCAGGCTGACCATTAC	0.433													22	46					1.10923e-09	2.45856e-09	1	0	A	7437333	C	A	7437333	3	1	210	1	0	0	0	0	1	0	0	0	15572	796	28	4	1119	4	SYT9	11	7437333	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1197531	7437333	127569183	428	37664											
ST5	6764	broad.mit.edu	37	chr11	8724239	8724239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtccacgtgctccagccttGagtccatgggccgccgcagc	6	7	12	16	3	0	1	0	1	0	0	3	1	3	1	6	1	3	2	6	1	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:8724239G>A	ENST00000534127.1	-	17	2985	c.2600C>T	c.(2599-2601)tCa>tTa	p.S867L	ST5_ENST00000526757.1_Missense_Mutation_p.S447L|ST5_ENST00000534278.1_Missense_Mutation_p.S58L|ST5_ENST00000526099.1_Missense_Mutation_p.S380L|ST5_ENST00000313726.6_Missense_Mutation_p.S867L|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.S339L|ST5_ENST00000530438.1_Missense_Mutation_p.S447L|ST5_ENST00000357665.1_Missense_Mutation_p.S867L	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	867	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTCCAGCCTTGAGTCCATGGG	0.622													9	50					0	0	0	0	A	8724239	G	A	8724239	3	1	210	1	0	0	0	0	1	0	0	0	15310	1294	45	2	841	2	ST5	11	8724239	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1286906	8724239	126282277	429	37665											
SCUBE2	57758	broad.mit.edu	37	chr11	9090930	9090930	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttacagatgcagtctctCtggttcttggccagctcaaa	9	13	8	11	0	4	1	1	0	3	1	5	1	4	1	1	2	4	3	1	2	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:9090930C>T	ENST00000457346.2	-	5	704	c.630G>A	c.(628-630)caG>caA	p.Q210Q	SCUBE2_ENST00000309263.3_Silent_p.Q210Q|SCUBE2_ENST00000450649.2_Silent_p.Q210Q|SCUBE2_ENST00000520467.1_Silent_p.Q210Q			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	210	EGF-like 4 (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGCAGTCTCTCTGGTTCTTGG	0.577													20	67					0	0	0	0	T	9090930	C	T	9090930	2	4	210	1	0	0	0	0	0	0	0	1	14032	912	32	2		2	SCUBE2	11	9090930	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	366691	9090930	125915586	430	37666											
KCNC1	3746	broad.mit.edu	37	chr11	17793800	17793800	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacacgcactttaagaacAtccccatcggcttctggtgg	10	9	9	13	2	1	1	0	0	1	1	3	1	2	1	2	3	2	3	2	3	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:17793800A>T	ENST00000379472.3	+	2	1189	c.1159A>T	c.(1159-1161)Atc>Ttc	p.I387F	KCNC1_ENST00000265969.6_Missense_Mutation_p.I387F	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	387						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTTTAAGAACATCCCCATCGG	0.612													24	57					0	0	0	0	T	17793800	A	T	17793800	3	4	210	1	0	0	0	0	1	0	0	0	8067	217	8	5	1165	5	KCNC1	11	17793800	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	8702870	17793800	117212716	431	37667											
DCDC1	341019	broad.mit.edu	37	chr11	31086167	31086167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggttgctggcactttcttGcagaacctaataaatgaaat	14	12	8	7	0	1	2	0	1	1	1	1	2	1	2	1	2	3	4	1	2	6	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:31086167G>T	ENST00000597505.1	-	18	2439	c.2440C>A	c.(2440-2442)Caa>Aaa	p.Q814K	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCACTTTCTTGCAGAACCTAA	0.398													12	76					1.5842e-08	3.41618e-08	1	0	T	31086167	G	T	31086167	3	4	210	1	0	0	0	0	1	0	0	0	4316	1334	46	4		4	DCDC1	11	31086167	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	13292367	31086167	103920349	432	37668											
AMBRA1	55626	broad.mit.edu	37	chr11	46564192	46564192	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagtgtacacagatgcctGagagccaccttcctgctgtc	9	10	10	12	0	0	3	0	2	0	2	2	4	1	3	4	0	4	2	4	0	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:46564192G>A	ENST00000458649.2	-	7	1793	c.1375C>T	c.(1375-1377)Cag>Tag	p.Q459*	AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Q369*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Q459*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Q369*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Q459*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Q459*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Q459*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	459					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ACAGATGCCTGAGAGCCACCT	0.572													10	49					0	0	0	0	A	46564192	G	A	46564192	4	1	210	1	0	0	0	0	0	1	0	0	565	1299	45	2	2569	2	AMBRA1	11	46564192	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	15478025	46564192	88442324	433	37669											
CKAP5	9793	broad.mit.edu	37	chr11	46772905	46772905	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttactcaccttgggcccTtttaatttgcataaggtgtg	7	17	8	9	0	2	0	1	0	1	0	2	0	2	0	2	2	2	1	2	2	3	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:46772905T>C	ENST00000529230.1	-	39	5359	c.5313A>G	c.(5311-5313)aaA>aaG	p.K1771K	CKAP5_ENST00000415402.1_Silent_p.K1771K|CKAP5_ENST00000312055.5_Silent_p.K1711K|CKAP5_ENST00000354558.3_Silent_p.K1711K			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1771					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	p.K1771K(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CCTTGGGCCCTTTTAATTTGC	0.443													3	120					0	0	0	0	C	46772905	T	C	46772905	2	2	210	1	0	0	0	0	0	0	0	1	3475	1606	56	5		5	CKAP5	11	46772905	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	208713	46772905	88233611	434	37670											
OR4C3	256144	broad.mit.edu	37	chr11	48346907	48346907	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggaggtgttgagatcattCtgctcacagtgatggcttat	8	14	13	6	0	3	2	2	2	1	1	3	4	3	3	0	3	1	3	0	3	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:48346907C>T	ENST00000319856.4	+	1	436	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGAGATCATTCTGCTCACAGT	0.488													31	139					0	0	0	0	T	48346907	C	T	48346907	2	4	210	1	0	0	0	0	0	0	0	1	11121	912	32	2		2	OR4C3	11	48346907	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1574002	48346907	86659609	435	37671											
OR4C11	219429	broad.mit.edu	37	chr11	55371370	55371370	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaggcaatcttaaggcCaggataatctgagctgtaga	15	8	11	7	0	2	3	0	1	2	2	2	4	2	4	1	3	1	3	1	3	5	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:55371370C>A	ENST00000302231.4	-	1	504	c.480G>T	c.(478-480)ctG>ctT	p.L160L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATCTTAAGGCCAGGATAATCT	0.448													20	65					2.39187e-15	5.73722e-15	1	0	A	55371370	C	A	55371370	2	1	210	1	0	0	0	0	0	0	0	1	11116	581	21	4		4	OR4C11	11	55371370	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	7024463	55371370	79635146	436	37672											
OR4S2	219431	broad.mit.edu	37	chr11	55419152	55419152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacttttatgtacatgcGccctgatacgaccttttcag	8	15	7	11	2	1	1	1	1	0	0	1	2	1	1	2	0	4	2	2	0	4	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:55419152G>T	ENST00000312422.2	+	1	773	c.773G>T	c.(772-774)cGc>cTc	p.R258L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	258					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)				ATGTACATGCGCCCTGATACG	0.463													29	157					5.61819e-17	1.35876e-16	1	0	T	55419152	G	T	55419152	3	4	210	1	0	0	0	0	1	0	0	0	11154	1087	38	3	775	3	OR4S2	11	55419152	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	47782	55419152	79587364	437	37673											
OR5D13	390142	broad.mit.edu	37	chr11	55541290	55541290	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcttatgaccgttttgTggcagtttgtaaacccttgc	7	15	11	8	1	0	1	0	1	0	0	0	2	0	1	2	2	2	5	2	2	3	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:55541290T>G	ENST00000361760.1	+	1	377	c.377T>G	c.(376-378)gTg>gGg	p.V126G		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GACCGTTTTGTGGCAGTTTGT	0.448													37	182					0	0	0	0	G	55541290	T	G	55541290	3	3	210	1	0	0	0	0	1	0	0	0	11225	1696	59	5	379	5	OR5D13	11	55541290	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	122138	55541290	79465226	438	37674											
OR10AG1	282770	broad.mit.edu	37	chr11	55735663	55735663	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagcataagaaaaaaacAcatttgtgtagcacaagcaa	20	7	6	8	0	0	1	0	0	0	1	1	1	1	1	1	0	4	4	1	0	8	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:55735663A>T	ENST00000312345.2	-	1	327	c.277T>A	c.(277-279)Tgt>Agt	p.C93S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGAAAAAAACACATTTGTGTA	0.403													10	59					0	0	0	0	T	55735663	A	T	55735663	3	4	210	1	0	0	0	0	1	0	0	0	10968	159	6	5	631	5	OR10AG1	11	55735663	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	194373	55735663	79270853	439	37675											
OR8H2	390151	broad.mit.edu	37	chr11	55873233	55873233	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaagcagaaagctttcTctacttgcgtctctcatctc	10	12	7	12	1	4	1	1	0	3	1	7	2	4	2	0	1	4	2	0	1	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:55873233T>A	ENST00000313503.1	+	1	715	c.715T>A	c.(715-717)Tct>Act	p.S239T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GAAAGCTTTCTCTACTTGCGT	0.383										HNSCC(53;0.14)			19	65					0	0	0	0	A	55873233	T	A	55873233	3	1	210	1	0	0	0	0	1	0	0	0	11309	1551	54	5	717	5	OR8H2	11	55873233	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	137570	55873233	79133283	440	37676											
OR5T2	219464	broad.mit.edu	37	chr11	56000129	56000129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagtggcatgtagactCtgggtgacatgctcactgaa	10	11	13	7	0	2	5	1	4	1	1	2	5	2	5	0	2	1	3	0	2	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:56000129C>A	ENST00000313264.4	-	1	608	c.533G>T	c.(532-534)aGa>aTa	p.R178I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CATGTAGACTCTGGGTGACAT	0.443													25	103					3.08376e-08	6.60914e-08	1	0	A	56000129	C	A	56000129	3	1	210	1	0	0	0	0	1	0	0	0	11253	913	32	2	545	2	OR5T2	11	56000129	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	126896	56000129	79006387	441	37677											
OR5T3	390154	broad.mit.edu	37	chr11	56019731	56019731	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaagtaaaaactgaaaTggacaagttgtcatcaggtt	15	10	9	7	0	2	1	2	1	0	0	2	2	2	2	1	2	2	4	1	2	6	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:56019731T>A	ENST00000303059.3	+	1	56	c.56T>A	c.(55-57)aTg>aAg	p.M19K		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AAAACTGAAATGGACAAGTTG	0.368													5	37					0	0	0	0	A	56019731	T	A	56019731	3	1	210	1	0	0	0	0	1	0	0	0	11254	1464	51	5	58	5	OR5T3	11	56019731	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	19602	56019731	78986785	442	37678											
OR5T3	390154	broad.mit.edu	37	chr11	56020312	56020312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgtcttttgtgatatgcctCctctccttgctatttcttgt	4	21	6	10	0	3	1	0	1	3	0	5	1	4	1	3	0	2	1	3	0	2	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:56020312C>T	ENST00000303059.3	+	1	637	c.637C>T	c.(637-639)Cct>Tct	p.P213S		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGATATGCCTCCTCTCCTTGC	0.408													6	219					0	0	0	0	T	56020312	C	T	56020312	3	4	210	1	0	0	0	0	1	0	0	0	11254	855	30	2	639	2	OR5T3	11	56020312	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	581	56020312	78986204	443	37679											
OR8K3	219473	broad.mit.edu	37	chr11	56086553	56086553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgggactttgcttttcatGtacgtgcagcccaagtccag	8	13	10	10	1	1	0	1	0	0	0	2	1	2	1	2	1	4	3	2	1	3	5	rs150576458	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:56086553G>T	ENST00000312711.1	+	1	771	c.771G>T	c.(769-771)atG>atT	p.M257I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGCTTTTCATGTACGTGCAGC	0.448													9	57					5.4927e-09	1.19179e-08	1	0	T	56086553	G	T	56086553	3	4	210	1	0	0	0	0	1	0	0	0	11315	1377	48	4	773	4	OR8K3	11	56086553	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	66241	56086553	78919963	444	37680											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077033	57077033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcctggctagcatcaCtgttttgccagctgctctgg	5	12	9	15	0	2	0	1	0	1	0	3	0	3	0	4	2	4	5	4	2	1	3	rs141886247	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:57077033C>A	ENST00000532437.1	-	5	3463	c.3152G>T	c.(3151-3153)aGt>aTt	p.S1051I	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1051I			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1051	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCTAGCATCACTGTTTTGCCA	0.637													24	56					9.86323e-18	2.39204e-17	1	0	A	57077033	C	A	57077033	3	1	210	1	0	0	0	0	1	0	0	0	16414	565	20	4	2061	4	TNKS1BP1	11	57077033	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	990480	57077033	77929483	445	37681											
OR9Q1	219956	broad.mit.edu	37	chr11	57947762	57947762	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttacacagaggtcatcccCatgttgaatcccctcatcta	10	12	5	14	0	3	2	2	1	1	1	5	2	5	2	4	1	1	1	4	1	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:57947762C>A	ENST00000335397.3	+	3	1162	c.846C>A	c.(844-846)ccC>ccA	p.P282P		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				AGGTCATCCCCATGTTGAATC	0.458													27	61					1.2476e-16	3.01317e-16	1	0	A	57947762	C	A	57947762	2	1	210	1	0	0	0	0	0	0	0	1	11326	581	21	4		4	OR9Q1	11	57947762	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	870729	57947762	77058754	446	37682											
OR10Q1	219960	broad.mit.edu	37	chr11	57996165	57996165	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacaggaagaaatacatcggGgtgcggagggtgctgtgtgt	10	8	18	5	2	0	1	0	0	0	1	1	4	0	3	0	5	3	1	0	5	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:57996165G>C	ENST00000316770.2	-	1	225	c.183C>G	c.(181-183)acC>acG	p.T61T		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AATACATCGGGGTGCGGAGGG	0.527													9	73					0	0	0	0	C	57996165	G	C	57996165	2	2	210	1	0	0	0	0	0	0	0	1	10987	1219	43	4		4	OR10Q1	11	57996165	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	48403	57996165	77010351	447	37683											
OR5A2	219981	broad.mit.edu	37	chr11	59190214	59190214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggacacatagcagatGtccaggaaggacaggttact	13	7	14	7	0	0	1	0	0	0	1	1	5	1	5	1	5	2	2	1	5	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:59190214G>T	ENST00000302040.4	-	1	235	c.213C>A	c.(211-213)gaC>gaA	p.D71E		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CATAGCAGATGTCCAGGAAGG	0.493													21	70					1.28384e-07	2.71498e-07	1	0	T	59190214	G	T	59190214	3	4	210	1	0	0	0	0	1	0	0	0	11211	1368	48	4	763	4	OR5A2	11	59190214	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1194049	59190214	75816302	448	37684											
MS4A14	84689	broad.mit.edu	37	chr11	60170499	60170499	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgccagatgccatcctttGaagaaatatgtgttttcagt	11	14	8	8	0	1	3	1	1	0	2	2	3	2	3	3	0	2	1	3	0	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:60170499G>C	ENST00000300187.6	+	4	710	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	MS4A14_ENST00000531787.1_Missense_Mutation_p.E33Q|MS4A14_ENST00000395005.2_Missense_Mutation_p.E128Q|MS4A14_ENST00000395001.1_Missense_Mutation_p.E33Q|MS4A14_ENST00000531783.1_Missense_Mutation_p.E145Q	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	145						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GCCATCCTTTGAAGAAATATG	0.388													5	119					0	0	0	0	C	60170499	G	C	60170499	3	2	210	1	0	0	0	0	1	0	0	0	9928	1291	45	2	447	2	MS4A14	11	60170499	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	980285	60170499	74836017	449	37685											
AHNAK	79026	broad.mit.edu	37	chr11	62293302	62293302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttcaggacctttcagatCtccctctaccttagggcctg	8	12	7	14	0	4	1	2	0	2	1	5	2	4	2	4	2	2	0	4	2	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:62293302C>T	ENST00000378024.4	-	5	8861	c.8587G>A	c.(8587-8589)Gat>Aat	p.D2863N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2863					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTCAGATCTCCCTCTACC	0.453													16	165					0	0	0	0	T	62293302	C	T	62293302	3	4	210	1	0	0	0	0	1	0	0	0	414	913	32	2	9205	2	AHNAK	11	62293302	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2122803	62293302	72713214	450	37686											
INTS5	80789	broad.mit.edu	37	chr11	62415040	62415040	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcccgctccacggtggcccGggcgtgttcctcggggggcc	2	7	16	16	5	0	0	0	0	0	0	4	0	3	0	5	6	0	2	5	6	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:62415040G>C	ENST00000330574.2	-	2	2564	c.2512C>G	c.(2512-2514)Cgg>Ggg	p.R838G		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	838					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ACGGTGGCCCGGGCGTGTTCC	0.657													3	103					0	0	0	0	C	62415040	G	C	62415040	3	2	210	1	0	0	0	0	1	0	0	0	7834	1115	39	3	551	3	INTS5	11	62415040	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	121738	62415040	72591476	451	37687											
SNX32	254122	broad.mit.edu	37	chr11	65617935	65617935	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctttaagaagacagttgcGatgcacgaagtctttctgca	12	12	9	8	2	3	2	0	0	3	2	3	4	3	2	0	0	3	3	0	0	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:65617935G>A	ENST00000308342.6	+	5	833	c.408G>A	c.(406-408)gcG>gcA	p.A136A		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	136	PX.				cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AGACAGTTGCGATGCACGAAG	0.592													6	57					0	0	0	0	A	65617935	G	A	65617935	2	1	210	1	0	0	0	0	0	0	0	1	14990	1045	37	1		1	SNX32	11	65617935	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3202895	65617935	69388581	452	37688											
CATSPER1	117144	broad.mit.edu	37	chr11	65793167	65793167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggcttcatgatgacgggaCctgccatggtggtggacttg	6	11	16	8	1	1	2	1	2	0	0	1	4	1	4	2	5	1	1	2	5	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:65793167C>A	ENST00000312106.5	-	1	821	c.684G>T	c.(682-684)agG>agT	p.R228S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	228	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GATGACGGGACCTGCCATGGT	0.592													13	33					3.27435e-08	7.00904e-08	1	0	A	65793167	C	A	65793167	3	1	210	1	0	0	0	0	1	0	0	0	2712	506	18	4	1706	4	CATSPER1	11	65793167	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	175232	65793167	69213349	453	37689											
TCIRG1	10312	broad.mit.edu	37	chr11	67812468	67812468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaccgcatcccctgccGggacatgccccccacactca	7	5	8	21	2	2	0	2	0	0	0	3	1	3	1	7	2	2	2	7	2	0	0	rs148627120	by1000genomes	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:67812468G>T	ENST00000265686.3	+	10	1172	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L	TCIRG1_ENST00000532635.1_Missense_Mutation_p.R139L	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	355					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						ATCCCCTGCCGGGACATGCCC	0.682													10	46					1.58986e-06	3.2945e-06	1	0	T	67812468	G	T	67812468	3	4	210	1	0	0	0	0	1	0	0	0	15797	1116	39	3	1098	3	TCIRG1	11	67812468	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2019301	67812468	67194048	454	37690											
MYEOV	26579	broad.mit.edu	37	chr11	69063361	69063361	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcactctgtgtggcactggGaacaggaattctgggagtca	9	9	15	8	0	3	0	1	0	2	0	3	3	3	3	0	5	1	2	0	5	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:69063361G>T	ENST00000535407.1	+	2	913	c.270G>T	c.(268-270)ggG>ggT	p.G90G	MYEOV_ENST00000441339.2_Silent_p.G148G|MYEOV_ENST00000308946.3_Silent_p.G148G			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	148										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GTGGCACTGGGAACAGGAATT	0.622													16	330					4.75885e-15	1.1368e-14	1	0	T	69063361	G	T	69063361	2	4	210	1	0	0	0	0	0	0	0	1	10095	1161	41	2		2	MYEOV	11	69063361	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1250893	69063361	65943155	455	37691											
USP35	57558	broad.mit.edu	37	chr11	77909074	77909074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggaacctcagcaatgatGacagtgtgacagactcgcag	12	7	11	11	2	1	4	1	3	0	1	3	5	2	5	2	1	2	2	2	1	2	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:77909074G>T	ENST00000529308.1	+	3	1027	c.766G>T	c.(766-768)Gac>Tac	p.D256Y	USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	256					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CAGCAATGATGACAGTGTGAC	0.597													7	116					0.000274275	0.000534211	1	0	T	77909074	G	T	77909074	3	4	210	1	0	0	0	0	1	0	0	0	17162	1290	45	2	772	2	USP35	11	77909074	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	8845713	77909074	57097442	456	37692											
CREBZF	58487	broad.mit.edu	37	chr11	85375815	85375815	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccccgctgcagcccgggtCaggtcagagggcagcgaaca	8	4	14	15	3	2	1	2	0	0	1	3	2	3	1	3	3	4	3	3	3	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:85375815C>G	ENST00000527447.1	-	1	331	c.105G>C	c.(103-105)ctG>ctC	p.L35L	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	35					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				CAGCCCGGGTCAGGTCAGAGG	0.692													4	38					0	0	0	0	G	85375815	C	G	85375815	2	3	210	1	0	0	0	0	0	0	0	1	3893	813	29	2		2	CREBZF	11	85375815	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	7466741	85375815	49630701	457	37693											
CTSC	1075	broad.mit.edu	37	chr11	88027277	88027277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattctcaccccagccggtgCcccagctgtttttaacaatc	8	11	6	16	1	1	0	1	0	1	0	3	0	1	0	5	1	4	2	5	1	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:88027277C>A	ENST00000227266.5	-	7	1403	c.1289G>T	c.(1288-1290)gGc>gTc	p.G430V		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	430					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCAGCCGGTGCCCCAGCTGTT	0.507													10	63					3.07112e-06	6.30425e-06	1	0	A	88027277	C	A	88027277	3	1	210	1	0	0	0	0	1	0	0	0	4063	739	26	4	106	4	CTSC	11	88027277	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2651462	88027277	46979239	458	37694											
TYR	7299	broad.mit.edu	37	chr11	88911881	88911881	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacagatgagtacatgggaGgtcagcaccccacaaatcct	13	6	10	12	0	1	2	1	1	0	1	2	3	2	3	3	2	2	3	3	2	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:88911881G>C	ENST00000263321.5	+	1	1262	c.760G>C	c.(760-762)Ggt>Cgt	p.G254R	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	254					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.G254S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GTACATGGGAGGTCAGCACCC	0.458													19	51					0	0	0	0	C	88911881	G	C	88911881	3	2	210	1	0	0	0	0	1	0	0	0	16909	1000	35	4	762	4	TYR	11	88911881	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	884604	88911881	46094635	459	37695											
FAT3	120114	broad.mit.edu	37	chr11	92523337	92523337	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgtgctctatactgccGagaggctggaccatgaggcc	7	8	14	12	2	1	2	0	1	1	1	1	4	1	3	3	4	3	2	3	4	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:92523337G>T	ENST00000298047.6	+	7	4581	c.4564G>T	c.(4564-4566)Gag>Tag	p.E1522*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.E1372*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.E1522*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1522	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTATACTGCCGAGAGGCTGGA	0.498										TCGA Ovarian(4;0.039)			53	142					9.86064e-34	2.45954e-33	1	0	T	92523337	G	T	92523337	4	4	210	1	0	0	0	0	0	1	0	0	5736	1059	37	3	4590	3	FAT3	11	92523337	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3611456	92523337	42483179	460	37696											
CCDC67	159989	broad.mit.edu	37	chr11	93088643	93088643	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcgggctttggagacaCgattagatcttcgggatcaa	11	10	13	7	3	2	3	1	0	1	3	3	6	2	4	0	3	1	1	0	3	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:93088643C>T	ENST00000298050.3	+	3	236	c.136C>T	c.(136-138)Cga>Tga	p.R46*	CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000527307.1_Nonsense_Mutation_p.R46*	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	46										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTTGGAGACACGATTAGATCT	0.388													16	48					0	0	0	0	T	93088643	C	T	93088643	4	4	210	1	0	0	0	0	0	1	0	0	2866	528	19	1	142	1	CCDC67	11	93088643	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	565306	93088643	41917873	461	37697											
HSPA8	3312	broad.mit.edu	37	chr11	122931384	122931384	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggatagaagcttttggtctCtcccttgtattctacttgga	7	17	9	8	0	2	1	0	0	2	1	4	3	3	3	1	3	2	2	1	3	4	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:122931384C>G	ENST00000534624.1	-	3	604	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	HSPA8_ENST00000526110.1_Missense_Mutation_p.E110Q|HSPA8_ENST00000453788.2_Missense_Mutation_p.E110Q|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.E110Q|HSPA8_ENST00000532636.1_Missense_Mutation_p.E110Q	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	110					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTTTTGGTCTCTCCCTTGTAT	0.453													8	78					0	0	0	0	G	122931384	C	G	122931384	3	3	210	1	0	0	0	0	1	0	0	0	7468	922	32	2	1640	2	HSPA8	11	122931384	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	29842741	122931384	12075132	462	37698											
OR8A1	390275	broad.mit.edu	37	chr11	124440565	124440565	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgacatcctccctctcAtgaagctgtcctgctctagc	6	13	7	15	0	3	2	1	2	3	0	7	2	6	2	3	0	3	2	3	0	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:124440565A>T	ENST00000284287.3	+	1	673	c.601A>T	c.(601-603)Atg>Ttg	p.M201L		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CCTCCCTCTCATGAAGCTGTC	0.448													22	76					0	0	0	0	T	124440565	A	T	124440565	3	4	210	1	0	0	0	0	1	0	0	0	11296	217	8	5	603	5	OR8A1	11	124440565	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	1509181	124440565	10565951	463	37699											
WNK1	65125	broad.mit.edu	37	chr12	994586	994586	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atctcatagcagtacaactgGattggctttctccctctctg	8	14	7	12	0	3	0	1	0	3	0	6	1	3	1	1	2	3	3	1	2	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:994586G>C	ENST00000537687.1	+	19	6039	c.5396G>C	c.(5395-5397)gGa>gCa	p.G1799A	WNK1_ENST00000340908.4_Missense_Mutation_p.G1132A|WNK1_ENST00000535572.1_Missense_Mutation_p.G1292A|WNK1_ENST00000530271.2_Missense_Mutation_p.G2037A|WNK1_ENST00000315939.6_Missense_Mutation_p.G1539A	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1539			Q -> E (in breast cancer samples; infiltrating ductal carcinoma; somatic mutation).		intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGTACAACTGGATTGGCTTTC	0.473													90	375					0	0	0	0	C	994586	G	C	994586	3	2	210	1	0	0	0	0	1	0	0	0	17473	1174	41	2	6192	2	WNK1	12	994586	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08		994586	132857309	464	37700											
CACNA1C	775	broad.mit.edu	37	chr12	2602389	2602389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgacccttccccttgtgCgctggaaacgggccacgggc	7	7	13	14	3	0	2	0	1	0	1	1	3	1	3	4	3	2	1	4	3	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:2602389C>T	ENST00000399655.1	+	7	1215	c.950C>T	c.(949-951)gCg>gTg	p.A317V	CACNA1C_ENST00000335762.5_Missense_Mutation_p.A317V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A317V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A317V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A317V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A317V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A317V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A317V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	317					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCCCCTTGTGCGCTGGAAACG	0.592													19	75					0	0	0	0	T	2602389	C	T	2602389	3	4	210	1	0	0	0	0	1	0	0	0	2565	768	27	1	976	1	CACNA1C	12	2602389	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1607803	2602389	131249506	465	37701											
KCNA5	3741	broad.mit.edu	37	chr12	5154004	5154004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagcccctgccccgcaacGagttccagcgccaggtgtgg	8	5	13	15	3	0	1	0	0	0	1	1	2	1	1	6	2	4	2	6	2	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:5154004G>A	ENST00000252321.3	+	1	920	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	231						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			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						GCCCCGCAACGAGTTCCAGCG	0.602													17	101					0	0	0	0	A	5154004	G	A	5154004	3	1	210	1	0	0	0	0	1	0	0	0	8059	1059	37	1	693	1	KCNA5	12	5154004	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2551615	5154004	128697891	466	37702											
LEPREL2	10536	broad.mit.edu	37	chr12	6939088	6939088	+	RNA	SNP	G	G	C																															gtagcaaaccccatgcacctGcagatgcgggaggacatggc																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:6939088G>C	ENST00000251761.8	+	0	597				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						CCATGCACCTGCAGATGCGGG	0.602													28	95					0	0	0	0	C	6939088	G	C	6939088	1	2	210	0	1	0	0	0	0	0	0	0	8784	1306	46	4		4	LEPREL2	12	6939088	RNA	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1785084	6939088	126912807	467	37703	288	2									
LEPREL2	10536	broad.mit.edu	37	chr12	6939090	6939090	+	RNA	SNP	A	A	T																															agcaaaccccatgcacctgcAgatgcgggaggacatggcta																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:6939090A>T	ENST00000251761.8	+	0	599				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						ATGCACCTGCAGATGCGGGAG	0.602													25	91					0	0	0	0	T	6939090	A	T	6939090	1	4	210	0	1	0	0	0	0	0	0	0	8784	188	7	5		5	LEPREL2	12	6939090	RNA	SNP	A	TCGA-CR-7388-01A-11D-2012-08	2	6939090	126912805	468	37704	288	2									
ATN1	1822	broad.mit.edu	37	chr12	7047658	7047658	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagaagttggctcaggaGggccgtgctccggtggaatg	8	7	16	10	2	1	1	1	0	0	1	2	3	2	3	3	5	1	3	3	5	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:7047658G>C	ENST00000356654.4	+	7	2769	c.2532G>C	c.(2530-2532)gaG>gaC	p.E844D	ATN1_ENST00000396684.2_Missense_Mutation_p.E844D	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	844					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGCTCAGGAGGGCCGTGCTC	0.587											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	31					0	0	0	0	C	7047658	G	C	7047658	3	2	210	1	0	0	0	0	1	0	0	0	1115	991	35	4	2554	4	ATN1	12	7047658	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	108568	7047658	126804237	469	37705											
C1S	716	broad.mit.edu	37	chr12	7177304	7177304	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgagtactgggtgctgacGgctgctcatgttgtggaggg	7	11	17	6	1	1	2	1	2	0	0	1	3	1	3	0	4	3	5	0	4	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:7177304G>T	ENST00000406697.1	+	15	2044	c.1416G>T	c.(1414-1416)acG>acT	p.T472T	C1S_ENST00000402681.3_Silent_p.T305T|C1S_ENST00000328916.3_Silent_p.T472T|C1S_ENST00000360817.5_Silent_p.T472T|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	472	Peptidase S1.				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)	GGGTGCTGACGGCTGCTCATG	0.517													8	35					0.000157383	0.000307222	1	0	T	7177304	G	T	7177304	2	4	210	1	0	0	0	0	0	0	0	1	1993	1103	39	3		3	C1S	12	7177304	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	129646	7177304	126674591	470	37706											
C3AR1	719	broad.mit.edu	37	chr12	8211440	8211440	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaattccctgaatggactGccttgctttcttcctaaaat	10	14	6	11	0	1	2	0	1	1	1	3	3	3	3	3	1	2	1	3	1	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:8211440G>A	ENST00000307637.4	-	2	1545	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	448					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TGAATGGACTGCCTTGCTTTC	0.458													17	80					0	0	0	0	A	8211440	G	A	8211440	4	1	210	1	0	0	0	0	0	1	0	0	2225	1328	46	4	110	4	C3AR1	12	8211440	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1034136	8211440	125640455	471	37707											
ABCC9	10060	broad.mit.edu	37	chr12	21970162	21970162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgactccatagtcaggaaaCtgttcaccttcttcactgca	10	12	6	13	0	4	1	3	1	1	0	5	2	5	2	2	1	2	2	2	1	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:21970162C>A	ENST00000261200.4	-	31	3850	c.3851G>T	c.(3850-3852)aGt>aTt	p.S1284I	ABCC9_ENST00000345162.2_Missense_Mutation_p.S1248I|ABCC9_ENST00000261201.4_Missense_Mutation_p.S1284I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1284					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTCAGGAAACTGTTCACCTT	0.368													16	108					5.3912e-06	1.09767e-05	1	0	A	21970162	C	A	21970162	3	1	210	1	0	0	0	0	1	0	0	0	59	565	20	4	972	4	ABCC9	12	21970162	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	13758722	21970162	111881733	472	37708											
ABCC9	10060	broad.mit.edu	37	chr12	21970227	21970227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttcctcacaacccaattCaaataattggttatctgtgt	13	14	5	9	0	3	0	2	0	1	0	4	0	4	0	2	1	1	2	2	1	6	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:21970227C>A	ENST00000261200.4	-	31	3785	c.3786G>T	c.(3784-3786)ttG>ttT	p.L1262F	ABCC9_ENST00000345162.2_Missense_Mutation_p.L1226F|ABCC9_ENST00000261201.4_Missense_Mutation_p.L1262F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1262	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAACCCAATTCAAATAATTGG	0.383													11	65					3.86212e-05	7.69348e-05	1	0	A	21970227	C	A	21970227	3	1	210	1	0	0	0	0	1	0	0	0	59	825	29	2	1037	2	ABCC9	12	21970227	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	65	21970227	111881668	473	37709											
PPFIBP1	8496	broad.mit.edu	37	chr12	27788028	27788028	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacagcagaaacgcttgttGaatggcttcagagtcaaatg	14	9	10	8	1	2	3	2	1	0	2	2	3	2	3	0	1	3	4	0	1	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:27788028G>C	ENST00000318304.8	+	4	533	c.250G>C	c.(250-252)Gaa>Caa	p.E84Q	PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000535047.1_Missense_Mutation_p.E84Q|PPFIBP1_ENST00000545334.1_Missense_Mutation_p.E84Q|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E84Q|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E84Q	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	84					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AACGCTTGTTGAATGGCTTCA	0.408													17	59					0	0	0	0	C	27788028	G	C	27788028	3	2	210	1	0	0	0	0	1	0	0	0	12384	1291	45	2	256	2	PPFIBP1	12	27788028	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	5817801	27788028	106063867	474	37710											
BICD1	636	broad.mit.edu	37	chr12	32260340	32260340	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctaaccaaggagctcacGgagaccacccacgagaagat	15	3	11	12	2	1	3	1	0	0	3	1	6	1	4	3	3	2	2	3	3	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:32260340G>C	ENST00000548411.1	+	1	256	c.75G>C	c.(73-75)acG>acC	p.T25T	BICD1_ENST00000551848.1_Silent_p.T25T|BICD1_ENST00000550207.1_Silent_p.T25T|BICD1_ENST00000551086.1_Silent_p.T25T|RP11-843B15.2_ENST00000551974.1_RNA|BICD1_ENST00000281474.5_Silent_p.T25T	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	25					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGGAGCTCACGGAGACCACCC	0.572													6	15					0	0	0	0	C	32260340	G	C	32260340	2	2	210	1	0	0	0	0	0	0	0	1	1433	1103	39	3		3	BICD1	12	32260340	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	4472312	32260340	101591555	475	37711											
FGD4	121512	broad.mit.edu	37	chr12	32793299	32793299	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccacacagtttcaaactGacccagtctaagtccgtgca	11	9	7	14	1	2	1	1	1	1	0	3	1	3	1	3	0	3	2	3	0	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:32793299G>T	ENST00000427716.2	+	17	2557	c.2133G>T	c.(2131-2133)ctG>ctT	p.L711L	FGD4_ENST00000531134.1_Silent_p.L796L|FGD4_ENST00000525053.1_Silent_p.L823L|FGD4_ENST00000534526.2_Silent_p.L848L|FGD4_ENST00000546442.1_Silent_p.L618L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	711	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GTTTCAAACTGACCCAGTCTA	0.517													19	95					5.35267e-07	1.12246e-06	1	0	T	32793299	G	T	32793299	2	4	210	1	0	0	0	0	0	0	0	1	5880	1277	45	2		2	FGD4	12	32793299	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	532959	32793299	101058596	476	37712											
LRRK2	120892	broad.mit.edu	37	chr12	40697896	40697896	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagcatatttatggtctaGagtagagaaactgcatcttt	15	13	8	5	0	2	2	0	0	2	2	2	3	2	2	0	1	3	3	0	1	7	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:40697896G>C	ENST00000298910.7	+	27	3795	c.3737G>C	c.(3736-3738)aGa>aCa	p.R1246T	LRRK2_ENST00000343742.2_Missense_Mutation_p.R1246T	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1246					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTATGGTCTAGAGTAGAGAAA	0.343													4	42					0	0	0	0	C	40697896	G	C	40697896	3	2	210	1	0	0	0	0	1	0	0	0	9097	942	33	2	3843	2	LRRK2	12	40697896	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	7904597	40697896	93153999	477	37713											
CNTN1	1272	broad.mit.edu	37	chr12	41327310	41327310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagttcagttcaaggatGtatatgcattgatgggccaa	11	14	11	5	0	2	1	2	1	0	0	2	2	2	2	1	2	1	5	1	2	5	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:41327310G>A	ENST00000551295.2	+	8	868	c.751G>A	c.(751-753)Gta>Ata	p.V251I	CNTN1_ENST00000348761.2_Missense_Mutation_p.V240I|CNTN1_ENST00000347616.1_Missense_Mutation_p.V251I|CNTN1_ENST00000547702.1_Missense_Mutation_p.V251I|CNTN1_ENST00000547849.1_Missense_Mutation_p.V251I|CNTN1_ENST00000360099.3_Missense_Mutation_p.V251I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	251	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTTCAAGGATGTATATGCATT	0.299													25	73					0	0	0	0	A	41327310	G	A	41327310	3	1	210	1	0	0	0	0	1	0	0	0	3670	1377	48	4	777	4	CNTN1	12	41327310	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	629414	41327310	92524585	478	37714											
ADAMTS20	80070	broad.mit.edu	37	chr12	43862412	43862412	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtacttacgtgtgcccaAgctcatgggctatagtaaaa	13	10	10	8	1	1	0	1	0	0	0	1	0	1	0	1	2	4	4	1	2	8	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:43862412A>G	ENST00000389420.3	-	8	1213	c.1214T>C	c.(1213-1215)cTt>cCt	p.L405P	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.L405P	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	405	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGTGTGCCCAAGCTCATGGGC	0.363													15	38					0	0	0	0	G	43862412	A	G	43862412	3	3	210	1	0	0	0	0	1	0	0	0	266	72	3	5	4645	5	ADAMTS20	12	43862412	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	2535102	43862412	89989483	479	37715											
POU6F1	5463	broad.mit.edu	37	chr12	51584173	51584173	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgggcagtgggttctTctcaaaataggcattgagag	9	11	14	7	0	2	1	1	1	2	1	3	2	2	1	1	3	0	3	1	3	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:51584173T>A	ENST00000389243.4	-	11	1702	c.763A>T	c.(763-765)Aag>Tag	p.K255*	POU6F1_ENST00000550824.1_Nonsense_Mutation_p.K255*|POU6F1_ENST00000333640.10_Nonsense_Mutation_p.K255*			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	255					brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						AGTGGGTTCTTCTCAAAATAG	0.567													24	115					0	0	0	0	A	51584173	T	A	51584173	4	1	210	1	0	0	0	0	0	1	0	0	12355	1792	62	5	146	5	POU6F1	12	51584173	Nonsense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	7721761	51584173	82267722	480	37716											
SCN8A	6334	broad.mit.edu	37	chr12	52200604	52200604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccacagaggaaagtgcagaCcctctgagtgaggatgactt	12	7	13	9	0	1	5	0	3	1	2	1	7	1	7	2	2	1	1	2	2	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:52200604C>G	ENST00000354534.5	+	27	5512	c.5334C>G	c.(5332-5334)gaC>gaG	p.D1778E	SCN8A_ENST00000545061.1_Missense_Mutation_p.D1737E	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1778					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AAAGTGCAGACCCTCTGAGTG	0.463													15	134					0	0	0	0	G	52200604	C	G	52200604	3	3	210	1	0	0	0	0	1	0	0	0	14011	506	18	4	5436	4	SCN8A	12	52200604	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	616431	52200604	81651291	481	37717											
KRT4	3851	broad.mit.edu	37	chr12	53202496	53202496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtacagggcttcagcctCagccttgctcctctgggcaa	6	10	11	14	0	3	0	2	0	1	0	4	0	4	0	3	3	4	4	3	3	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:53202496C>G	ENST00000293774.4	-	5	1465	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	KRT4_ENST00000458244.2_Missense_Mutation_p.E305Q|KRT4_ENST00000551956.1_Missense_Mutation_p.E325Q			B4DRS2	B4DRS2_HUMAN	keratin 4	325						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTTCAGCCTCAGCCTTGCTC	0.572													7	68					0	0	0	0	G	53202496	C	G	53202496	3	3	210	1	0	0	0	0	1	0	0	0	8529	835	29	2	609	2	KRT4	12	53202496	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1001892	53202496	80649399	482	37718											
HOXC11	3227	broad.mit.edu	37	chr12	54367536	54367536	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgcccgccgagccccccTgctccggcaagggcgaggcc	5	2	13	21	5	0	0	0	0	0	0	1	2	1	0	8	3	2	2	8	3	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:54367536T>G	ENST00000546378.1	+	1	627	c.511T>G	c.(511-513)Tgc>Ggc	p.C171G	HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.C171G|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11	171					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CGAGCCCCCCTGCTCCGGCAA	0.711			T	NUP98	AML								6	38					0	0	0	0	G	54367536	T	G	54367536	3	3	210	1	0	0	0	0	1	0	0	0	7360	1580	55	5	513	5	HOXC11	12	54367536	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	1165040	54367536	79484359	483	37719											
ITGA7	3679	broad.mit.edu	37	chr12	56094761	56094761	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcagctgtgccctgctGgcagaacccaaattgttcat	8	9	12	12	1	1	1	1	0	0	1	1	1	1	1	2	3	4	5	2	3	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:56094761G>A	ENST00000257880.7	-	4	811	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	ITGA7_ENST00000555728.1_Nonsense_Mutation_p.Q198*|ITGA7_ENST00000452168.2_Nonsense_Mutation_p.Q101*|ITGA7_ENST00000553804.1_Nonsense_Mutation_p.Q198*|ITGA7_ENST00000347027.6_Nonsense_Mutation_p.Q198*|ITGA7_ENST00000394230.2_Nonsense_Mutation_p.Q198*|ITGA7_ENST00000257879.6_Nonsense_Mutation_p.Q198*|ITGA7_ENST00000394229.2_Nonsense_Mutation_p.Q198*			Q13683	ITA7_HUMAN	integrin, alpha 7	198					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTGCCCTGCTGGCAGAACCCA	0.592													4	34					0	0	0	0	A	56094761	G	A	56094761	4	1	210	1	0	0	0	0	0	1	0	0	7934	1357	47	4	3045	4	ITGA7	12	56094761	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1727225	56094761	77757134	484	37720											
INHBC	3626	broad.mit.edu	37	chr12	57843393	57843393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtcatcctgggtggagctgCccataggccttttgtggcag	6	11	14	10	0	1	0	1	0	0	0	2	1	2	1	3	4	2	2	3	4	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:57843393C>T	ENST00000309668.2	+	2	774	c.647C>T	c.(646-648)gCc>gTc	p.A216V	INHBC_ENST00000550133.1_Intron	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	216					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GGTGGAGCTGCCCATAGGCCT	0.622													13	47					0	0	0	0	T	57843393	C	T	57843393	3	4	210	1	0	0	0	0	1	0	0	0	7796	739	26	4	653	4	INHBC	12	57843393	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1748632	57843393	76008502	485	37721											
MARS	4141	broad.mit.edu	37	chr12	57909800	57909800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagctaaaggctgtgccctCgctccacaacagccacagca	13	5	8	15	1	0	0	0	0	0	0	2	0	1	0	3	1	5	4	3	1	4	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:57909800C>T	ENST00000315473.5	+	18	2438	c.1787C>T	c.(1786-1788)tCg>tTg	p.S596L	MARS_ENST00000262027.5_Intron			P56192	SYMC_HUMAN	methionyl-tRNA synthetase	0					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GCTGTGCCCTCGCTCCACAAC	0.498													5	71					0	0	0	0	T	57909800	C	T	57909800	3	4	210	1	0	0	0	0	1	0	0	0	9385	899	31	1		1	MARS	12	57909800	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	66407	57909800	75942095	486	37722											
DCTN2	10540	broad.mit.edu	37	chr12	57929539	57929539	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccagtctcaccaagtccCtttgtccccactctcttgtc	6	12	5	18	0	2	0	1	0	2	0	7	0	4	0	5	0	1	0	5	0	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:57929539C>T	ENST00000548249.1	-	3	462	c.195G>A	c.(193-195)aaG>aaA	p.K65K	DCTN2_ENST00000434715.3_Silent_p.K70K|DCTN2_ENST00000543672.1_Silent_p.K70K|DCTN2_ENST00000551400.1_5'UTR|DCTN2_ENST00000537439.1_Silent_p.K42K	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	65					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CACCAAGTCCCTTTGTCCCCA	0.498													4	23					0	0	0	0	T	57929539	C	T	57929539	2	4	210	1	0	0	0	0	0	0	0	1	4339	680	24	4		4	DCTN2	12	57929539	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	19739	57929539	75922356	487	37723											
SLC16A7	9194	broad.mit.edu	37	chr12	60169100	60169100	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggactacacaagcctggtaTtatatgctgtattttttggc	10	15	9	7	0	0	0	0	0	0	0	0	1	0	1	1	3	3	3	1	3	6	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:60169100T>A	ENST00000261187.4	+	4	1188	c.1024T>A	c.(1024-1026)Tta>Ata	p.L342I	SLC16A7_ENST00000547379.1_Missense_Mutation_p.L342I|SLC16A7_ENST00000552024.1_Missense_Mutation_p.L342I|SLC16A7_ENST00000552432.1_Missense_Mutation_p.L342I|SLC16A7_ENST00000543448.1_Missense_Mutation_p.L243I	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	342						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	AAGCCTGGTATTATATGCTGT	0.453													8	164					0	0	0	0	A	60169100	T	A	60169100	3	1	210	1	0	0	0	0	1	0	0	0	14501	1490	52	5	1034	5	SLC16A7	12	60169100	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	2239561	60169100	73682795	488	37724											
AVPR1A	552	broad.mit.edu	37	chr12	63543842	63543842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccacacccgcttgctctgCacccttgctctggcgcgacg	4	8	11	18	4	2	0	0	0	2	0	2	1	2	0	3	2	3	4	3	2	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:63543842C>A	ENST00000299178.2	-	1	880	c.775G>T	c.(775-777)Gca>Tca	p.A259S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	259					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTTGCTCTGCACCCTTGCTC	0.612													23	96					1.96895e-08	4.23541e-08	1	0	A	63543842	C	A	63543842	3	1	210	1	0	0	0	0	1	0	0	0	1235	710	25	4	489	4	AVPR1A	12	63543842	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3374742	63543842	70308053	489	37725											
CPM	1368	broad.mit.edu	37	chr12	69265656	69265656	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtatccgggtactattgatCagatttgtgatttcagggtc	8	16	11	6	1	2	3	2	2	0	1	4	3	3	3	1	2	1	2	1	2	3	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:69265656C>G	ENST00000551568.1	-	4	399	c.339G>C	c.(337-339)ctG>ctC	p.L113L	CPM_ENST00000546373.1_Silent_p.L113L|CPM_ENST00000338356.3_Silent_p.L113L	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	113					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TACTATTGATCAGATTTGTGA	0.443													14	83					0	0	0	0	G	69265656	C	G	69265656	2	3	210	1	0	0	0	0	0	0	0	1	3838	813	29	2		2	CPM	12	69265656	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	5721814	69265656	64586239	490	37726											
BEST3	144453	broad.mit.edu	37	chr12	70049561	70049561	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcataatcccacagcCactcctcgtcaggaaagtcg	10	9	7	15	2	2	0	2	0	1	0	7	1	4	1	3	1	1	1	3	1	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:70049561C>T	ENST00000330891.5	-	10	1359	c.1133G>A	c.(1132-1134)tGg>tAg	p.W378*	BEST3_ENST00000553096.1_Nonsense_Mutation_p.W272*|BEST3_ENST00000488961.1_Nonsense_Mutation_p.W165*|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	378						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			ATCCCACAGCCACTCCTCGTC	0.552													30	90					0	0	0	0	T	70049561	C	T	70049561	4	4	210	1	0	0	0	0	0	1	0	0	1410	595	21	4	877	4	BEST3	12	70049561	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	783905	70049561	63802334	491	37727											
PTPRB	5787	broad.mit.edu	37	chr12	70954649	70954649	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccagaggctggactccAgttgaaccaaaggctgtctg	9	8	12	12	0	1	2	0	1	1	1	3	3	3	3	4	3	1	3	4	3	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:70954649A>T	ENST00000334414.6	-	17	4278	c.4234T>A	c.(4234-4236)Tgg>Agg	p.W1412R	PTPRB_ENST00000550857.1_Missense_Mutation_p.W1104R|PTPRB_ENST00000551525.1_Missense_Mutation_p.W1411R|PTPRB_ENST00000550358.1_Missense_Mutation_p.W1324R|PTPRB_ENST00000451516.2_Missense_Mutation_p.W1104R|PTPRB_ENST00000261266.5_Missense_Mutation_p.W1194R|PTPRB_ENST00000538708.1_Missense_Mutation_p.W1104R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1194	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCTGGACTCCAGTTGAACCAA	0.458													16	88					0	0	0	0	T	70954649	A	T	70954649	3	4	210	1	0	0	0	0	1	0	0	0	12878	188	7	5	2485	5	PTPRB	12	70954649	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	905088	70954649	62897246	492	37728											
KRR1	11103	broad.mit.edu	37	chr12	75895584	75895584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtctcttactgatggcttCtgcttgtttagcctacatta	6	19	7	9	0	2	1	0	1	2	0	3	1	2	1	1	1	4	3	1	1	4	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:75895584C>T	ENST00000229214.4	-	9	945	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	KRR1_ENST00000438169.2_Missense_Mutation_p.E251K|GLIPR1_ENST00000266659.3_3'UTR	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	308	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CTGATGGCTTCTGCTTGTTTA	0.303													6	29					0	0	0	0	T	75895584	C	T	75895584	3	4	210	1	0	0	0	0	1	0	0	0	8498	922	32	2	231	2	KRR1	12	75895584	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4940935	75895584	57956311	493	37729											
NAV3	89795	broad.mit.edu	37	chr12	78562546	78562546	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attccacaggaatctgaactTatagaactaagagaaaccat	18	9	6	8	0	1	3	0	1	1	2	2	5	2	4	2	1	3	0	2	1	7	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:78562546T>A	ENST00000397909.2	+	24	5054	c.4881T>A	c.(4879-4881)ctT>ctA	p.L1627L	NAV3_ENST00000536525.2_Silent_p.L1627L|NAV3_ENST00000266692.7_Silent_p.L1450L|NAV3_ENST00000228327.6_Silent_p.L1627L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1627						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AATCTGAACTTATAGAACTAA	0.408										HNSCC(70;0.22)			24	93					0	0	0	0	A	78562546	T	A	78562546	2	1	210	1	0	0	0	0	0	0	0	1	10255	1741	61	5		5	NAV3	12	78562546	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	2666962	78562546	55289349	494	37730											
PPFIA2	8499	broad.mit.edu	37	chr12	81768487	81768487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcctttctcatggtctGctgcaacttttgttcagcta	6	17	7	11	0	4	0	3	0	2	0	5	0	4	0	1	1	5	4	1	1	2	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:81768487G>T	ENST00000550584.2	-	10	1487	c.1192C>A	c.(1192-1194)Cag>Aag	p.Q398K	PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q245K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q398K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q380K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q299K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q380K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.Q398K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q324K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q398K|PPFIA2_ENST00000545296.2_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	324										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTCATGGTCTGCTGCAACTTT	0.458													24	58					2.21704e-12	5.14176e-12	1	0	T	81768487	G	T	81768487	3	4	210	1	0	0	0	0	1	0	0	0	12381	1328	46	4	2669	4	PPFIA2	12	81768487	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3205941	81768487	52083408	495	37731											
MGAT4C	25834	broad.mit.edu	37	chr12	86373115	86373115	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataattagccattccttttgTgttttggtgacatatatcct	9	19	6	7	0	0	1	0	1	0	0	2	1	2	1	3	1	1	1	3	1	4	9			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:86373115T>G	ENST00000604798.1	-	8	2593	c.1389A>C	c.(1387-1389)acA>acC	p.T463T	MGAT4C_ENST00000549405.2_Silent_p.T463T|MGAT4C_ENST00000332156.1_Silent_p.T463T|MGAT4C_ENST00000393205.2_Silent_p.T492T|MGAT4C_ENST00000552808.2_Silent_p.T463T|MGAT4C_ENST00000548651.1_Silent_p.T463T			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	463					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTCCTTTTGTGTTTTGGTGA	0.323													6	28					0	0	0	0	G	86373115	T	G	86373115	2	3	210	1	0	0	0	0	0	0	0	1	9616	1683	59	5		5	MGAT4C	12	86373115	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	4604628	86373115	47478780	496	37732											
EEA1	8411	broad.mit.edu	37	chr12	93170693	93170693	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgtcttcggcccactttCtattcaacgcttgtgtatgt	6	17	7	11	2	3	0	1	0	2	0	4	0	3	0	1	1	1	2	1	1	3	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:93170693C>G	ENST00000322349.8	-	28	4304	c.4040G>C	c.(4039-4041)aGa>aCa	p.R1347T		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	1347					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GGCCCACTTTCTATTCAACGC	0.333													8	109					0	0	0	0	G	93170693	C	G	93170693	3	3	210	1	0	0	0	0	1	0	0	0	4957	913	32	2	203	2	EEA1	12	93170693	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	6797578	93170693	40681202	497	37733											
PLXNC1	10154	broad.mit.edu	37	chr12	94694716	94694716	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcttctgggtaaacatcctGaagaaccctcagtttgtctt	9	13	8	11	1	3	2	1	1	2	1	4	2	4	2	2	1	2	3	2	1	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:94694716G>A	ENST00000258526.4	+	28	4518	c.4269G>A	c.(4267-4269)ctG>ctA	p.L1423L	PLXNC1_ENST00000547057.1_Silent_p.L470L|PLXNC1_ENST00000545312.1_Silent_p.L162L	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1423					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TAAACATCCTGAAGAACCCTC	0.423													14	52					0	0	0	0	A	94694716	G	A	94694716	2	1	210	1	0	0	0	0	0	0	0	1	12198	1277	45	2		2	PLXNC1	12	94694716	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1524023	94694716	39157179	498	37734											
IKBIP	121457	broad.mit.edu	37	chr12	99007959	99007959	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtctacttttgtaatgtCttgagaaagcgtcgtcagac	9	15	10	7	2	3	2	1	1	2	2	4	3	3	2	0	1	2	1	0	1	3	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:99007959C>G	ENST00000342502.2	-	3	868	c.457G>C	c.(457-459)Gac>Cac	p.D153H	IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.D47H	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	153					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTTGTAATGTCTTGAGAAAGC	0.363													18	55					0	0	0	0	G	99007959	C	G	99007959	3	3	210	1	0	0	0	0	1	0	0	0	7662	913	32	2	599	2	IKBIP	12	99007959	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4313243	99007959	34843936	499	37735											
GAS2L3	283431	broad.mit.edu	37	chr12	101017491	101017491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggagtttctaatgaaaGtgtacctgattcgcctgcca	13	11	9	8	1	1	2	0	2	1	0	2	3	1	3	3	1	2	2	3	1	5	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:101017491G>T	ENST00000537247.1	+	10	1550	c.596G>T	c.(595-597)aGt>aTt	p.S199I	GAS2L3_ENST00000266754.5_Missense_Mutation_p.S303I|GAS2L3_ENST00000547754.1_Missense_Mutation_p.S303I|GAS2L3_ENST00000539410.1_Missense_Mutation_p.S303I			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	303					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTAATGAAAGTGTACCTGAT	0.378													7	45					2.0095e-06	4.13957e-06	1	0	T	101017491	G	T	101017491	3	4	210	1	0	0	0	0	1	0	0	0	6297	1029	36	4	938	4	GAS2L3	12	101017491	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2009532	101017491	32834404	500	37736											
GAS2L3	283431	broad.mit.edu	37	chr12	101017768	101017768	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcataacgaagaaaccGcaggctccttcaaacaatgc	17	5	8	11	2	1	1	1	0	0	1	2	2	2	1	2	2	4	3	2	2	6	2	rs61748062	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:101017768G>C	ENST00000537247.1	+	10	1827	c.873G>C	c.(871-873)ccG>ccC	p.P291P	GAS2L3_ENST00000266754.5_Silent_p.P395P|GAS2L3_ENST00000547754.1_Silent_p.P395P|GAS2L3_ENST00000539410.1_Silent_p.P395P			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	395					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CGAAGAAACCGCAGGCTCCTT	0.418													28	87					0	0	0	0	C	101017768	G	C	101017768	2	2	210	1	0	0	0	0	0	0	0	1	6297	1074	38	3		3	GAS2L3	12	101017768	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	277	101017768	32834127	501	37737											
C12orf42	374470	broad.mit.edu	37	chr12	103699898	103699898	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccaaaaatgaactgttcCaagcctgcttgggtgctcct	9	12	9	11	0	0	1	0	1	0	0	3	1	3	1	4	1	4	4	4	1	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:103699898C>T	ENST00000548048.1	-	8	780	c.284G>A	c.(283-285)tGg>tAg	p.W95*	C12orf42_ENST00000378113.2_Nonsense_Mutation_p.W162*|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Nonsense_Mutation_p.W162*			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	162										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TGAACTGTTCCAAGCCTGCTT	0.493													13	48					0	0	0	0	T	103699898	C	T	103699898	4	4	210	1	0	0	0	0	0	1	0	0	1700	595	21	4	605	4	C12orf42	12	103699898	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2682130	103699898	30151997	502	37738											
STAB2	55576	broad.mit.edu	37	chr12	103988252	103988252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaggactatctccaacctCggtgttgtcctggccgctgg	6	10	13	12	2	1	0	0	0	1	0	4	2	2	2	4	5	1	2	4	5	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:103988252C>T	ENST00000388887.2	+	3	499	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	99					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCTCCAACCTCGGTGTTGTCC	0.493													21	100					0	0	0	0	T	103988252	C	T	103988252	3	4	210	1	0	0	0	0	1	0	0	0	15328	875	31	1	305	1	STAB2	12	103988252	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	288354	103988252	29863643	503	37739											
HSP90B1	7184	broad.mit.edu	37	chr12	104335647	104335647	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttgaatgtttcccgcgAgactcttcagcaacataaac	11	10	6	14	2	2	2	1	1	1	1	3	3	3	2	3	0	3	2	3	0	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:104335647A>T	ENST00000299767.5	+	11	1528	c.1346A>T	c.(1345-1347)gAg>gTg	p.E449V		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	449					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GTTTCCCGCGAGACTCTTCAG	0.453													18	58					0	0	0	0	T	104335647	A	T	104335647	3	4	210	1	0	0	0	0	1	0	0	0	7455	304	11	5	1388	5	HSP90B1	12	104335647	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	347395	104335647	29516248	504	37740											
CHST11	50515	broad.mit.edu	37	chr12	105151344	105151344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgccacatccactatgaCctcgtgggcaagtacgagac	10	7	9	15	2	0	2	0	1	0	1	2	3	1	2	4	1	2	2	4	1	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:105151344C>G	ENST00000303694.5	+	3	1261	c.822C>G	c.(820-822)gaC>gaG	p.D274E	CHST11_ENST00000549260.1_Missense_Mutation_p.D269E	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	274					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TCCACTATGACCTCGTGGGCA	0.547													3	29					0	0	0	0	G	105151344	C	G	105151344	3	3	210	1	0	0	0	0	1	0	0	0	3428	506	18	4	832	4	CHST11	12	105151344	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	815697	105151344	28700551	505	37741											
ALDH2	217	broad.mit.edu	37	chr12	112229161	112229161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcctggatttggccccacgGctggggccgccattgcctcc	3	9	13	16	2	0	0	0	0	0	0	1	1	1	1	7	5	2	1	7	5	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:112229161G>T	ENST00000261733.2	+	7	794	c.733G>T	c.(733-735)Gct>Tct	p.A245S	RP11-162P23.2_ENST00000546840.2_Silent_p.R241R|ALDH2_ENST00000416293.3_Missense_Mutation_p.A198S	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	245					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	TGGCCCCACGGCTGGGGCCGC	0.587			T	HMGA2	leiomyoma								5	18					0.00307968	0.00578596	1	0	T	112229161	G	T	112229161	3	4	210	1	0	0	0	0	1	0	0	0	496	1203	42	4	759	4	ALDH2	12	112229161	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	7077817	112229161	21622734	506	37742											
RPL6	6128	broad.mit.edu	37	chr12	112846080	112846080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accacccgggtaccgccgttCttgtcaccaccaactggttt	7	10	8	16	3	2	0	1	0	1	0	2	0	2	0	6	2	2	3	6	2	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:112846080C>G	ENST00000424576.2	-	3	485	c.300G>C	c.(298-300)aaG>aaC	p.K100N	RPL6_ENST00000202773.9_Missense_Mutation_p.K100N	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	100			K -> Q (in a colorectal cancer sample; somatic mutation).		endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						TACCGCCGTTCTTGTCACCAC	0.413													10	74					0	0	0	0	G	112846080	C	G	112846080	3	3	210	1	0	0	0	0	1	0	0	0	13683	912	32	2	586	2	RPL6	12	112846080	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	616919	112846080	21005815	507	37743											
DDX54	79039	broad.mit.edu	37	chr12	113614713	113614713	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatttccacagccacatgCaccaaccgtccgggcgtggc	8	7	9	17	3	1	0	1	0	0	0	3	0	3	0	5	2	3	1	5	2	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:113614713C>A	ENST00000314045.7	-	7	711	c.684G>T	c.(682-684)gtG>gtT	p.V228V	DDX54_ENST00000306014.5_Silent_p.V228V	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	228	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGCCACATGCACCAACCGTC	0.592													16	55					3.41278e-10	7.65145e-10	1	0	A	113614713	C	A	113614713	2	1	210	1	0	0	0	0	0	0	0	1	4404	697	25	4		4	DDX54	12	113614713	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	768633	113614713	20237182	508	37744											
RBM19	9904	broad.mit.edu	37	chr12	114261089	114261089	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttccagctgctccaggatCtcgtccaacaccacagaccg	9	7	7	18	2	1	1	0	0	1	1	5	2	4	2	6	1	3	2	6	1	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:114261089C>G	ENST00000545145.2	-	24	2901	c.2823G>C	c.(2821-2823)gaG>gaC	p.E941D	RBM19_ENST00000392561.3_Missense_Mutation_p.E941D|RBM19_ENST00000261741.5_Missense_Mutation_p.E941D	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	941					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTCCAGGATCTCGTCCAACA	0.622													3	29					0	0	0	0	G	114261089	C	G	114261089	3	3	210	1	0	0	0	0	1	0	0	0	13203	912	32	2	63	2	RBM19	12	114261089	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	646376	114261089	19590806	509	37745											
TBX5	6910	broad.mit.edu	37	chr12	114839711	114839711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttcatggagaaacactttGattccctccatgccctgcaa	10	12	6	13	0	1	2	1	1	0	1	3	3	3	2	3	1	3	1	3	1	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:114839711G>C	ENST00000310346.4	-	3	828	c.162C>G	c.(160-162)atC>atG	p.I54M	TBX5_ENST00000349716.5_Missense_Mutation_p.I4M|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Missense_Mutation_p.I54M|TBX5_ENST00000405440.2_Missense_Mutation_p.I54M	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	54			I -> T (in HOS).		cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAAACACTTTGATTCCCTCCA	0.473													6	41					0	0	0	0	C	114839711	G	C	114839711	3	2	210	1	0	0	0	0	1	0	0	0	15755	1280	45	2	1489	2	TBX5	12	114839711	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	578622	114839711	19012184	510	37746											
CIT	11113	broad.mit.edu	37	chr12	120135524	120135524	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actccttcacgaggtttcccTtgcagcaaatgacccttaat	10	12	6	13	1	1	1	1	1	0	0	3	2	3	1	3	1	2	3	3	1	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:120135524T>A	ENST00000392521.2	-	46	5877	c.5822A>T	c.(5821-5823)aAg>aTg	p.K1941M	CIT_ENST00000261833.7_Missense_Mutation_p.K1899M|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1899					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGGTTTCCCTTGCAGCAAAT	0.582													24	84					0	0	0	0	A	120135524	T	A	120135524	3	1	210	1	0	0	0	0	1	0	0	0	3468	1609	56	5	399	5	CIT	12	120135524	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	5295813	120135524	13716371	511	37747											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124221632	124221632	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaaaaccgaggactatttGaggcaagtgctatgtaaagc	15	8	10	8	1	0	1	0	1	0	0	0	3	0	2	1	2	3	3	1	2	7	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:124221632G>A	ENST00000330342.3	+	9	1100	c.852G>A	c.(850-852)ttG>ttA	p.L284L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	284					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AGGACTATTTGAGGCAAGTGC	0.507													11	109					0	0	0	0	A	124221632	G	A	124221632	2	1	210	1	0	0	0	0	0	0	0	1	1173	1281	45	2		2	ATP6V0A2	12	124221632	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	4086108	124221632	9630263	512	37748											
SLC15A4	121260	broad.mit.edu	37	chr12	129283841	129283841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatccatccgatggctttGatagacaccagtgccagcag	10	9	9	13	1	1	2	1	1	0	1	3	3	3	2	4	1	2	2	4	1	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:129283841G>C	ENST00000266771.5	-	7	1575	c.1536C>G	c.(1534-1536)atC>atG	p.I512M	SLC15A4_ENST00000545031.1_Missense_Mutation_p.I29M|SLC15A4_ENST00000544112.1_Missense_Mutation_p.I175M	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	512					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CGATGGCTTTGATAGACACCA	0.547													16	57					0	0	0	0	C	129283841	G	C	129283841	3	2	210	1	0	0	0	0	1	0	0	0	14489	1280	45	2	205	2	SLC15A4	12	129283841	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	5062209	129283841	4568054	513	37749											
TMEM132D	121256	broad.mit.edu	37	chr12	129558977	129558977	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atacatcccaatttctaagtCgctcagccctttggatgcct	9	13	6	13	1	2	0	1	0	1	0	4	1	3	1	3	1	3	1	3	1	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:129558977C>G	ENST00000422113.2	-	9	3069	c.2743G>C	c.(2743-2745)Gac>Cac	p.D915H	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D453H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	915						integral to membrane		p.D915N(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATTTCTAAGTCGCTCAGCCCT	0.488													10	52					0	0	0	0	G	129558977	C	G	129558977	3	3	210	1	0	0	0	0	1	0	0	0	16141	884	31	3	560	3	TMEM132D	12	129558977	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	275136	129558977	4292918	514	37750											
RIMBP2	23504	broad.mit.edu	37	chr12	130912810	130912810	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atacagctcctcctcgtcctCctccatgatgtctgagaggt	7	12	8	14	1	1	2	0	2	1	1	7	3	6	2	5	1	2	1	5	1	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:130912810C>A	ENST00000261655.4	-	12	2438	c.2275G>T	c.(2275-2277)Gag>Tag	p.E759*		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	759						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCTCGTCCTCCTCCATGATG	0.612													11	57					9.70103e-10	2.15565e-09	1	0	A	130912810	C	A	130912810	4	1	210	1	0	0	0	0	0	1	0	0	13446	864	30	2	915	2	RIMBP2	12	130912810	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1353833	130912810	2939085	515	37751											
ANKLE2	23141	broad.mit.edu	37	chr12	133327233	133327233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggctgcatgatttacctttCaacctgtcattgctaaagag	10	13	8	10	1	2	2	2	1	0	1	2	2	2	2	2	1	4	3	2	1	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:133327233C>T	ENST00000539605.1	-	2	7341	c.657G>A	c.(655-657)ttG>ttA	p.L219L	ANKLE2_ENST00000337516.5_Silent_p.L281L|ANKLE2_ENST00000357997.5_Silent_p.L281L			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	281						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ATTTACCTTTCAACCTGTCAT	0.423													6	39					0	0	0	0	T	133327233	C	T	133327233	2	4	210	1	0	0	0	0	0	0	0	1	633	825	29	2		2	ANKLE2	12	133327233	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2414423	133327233	524662	516	37752											
PABPC3	5042	broad.mit.edu	37	chr13	25671507	25671507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagaatggcaagtgtacgaGctgtgcccaaccagcgagca	13	5	13	10	2	0	1	0	0	0	1	0	4	0	1	2	1	6	4	2	1	4	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:25671507G>A	ENST00000281589.3	+	1	1208	c.1171G>A	c.(1171-1173)Gct>Act	p.A391T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	391					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAGTGTACGAGCTGTGCCCAA	0.507													21	99					0	0	0	0	A	25671507	G	A	25671507	3	1	210	1	0	0	0	0	1	0	0	0	11436	971	34	4	1173	4	PABPC3	13	25671507	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08		25671507	89498371	517	37753											
ATP8A2	51761	broad.mit.edu	37	chr13	26402328	26402328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcatcggcctgtacaatGtggtaagcattcttcatctc	8	13	10	10	1	3	0	1	0	2	0	5	0	3	0	1	3	3	4	1	3	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:26402328G>T	ENST00000381655.2	+	28	2894	c.2752G>T	c.(2752-2754)Gtg>Ttg	p.V918L	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Intron	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	878					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCTGTACAATGTGGTAAGCAT	0.398													26	127					1.33986e-20	3.28585e-20	1	0	T	26402328	G	T	26402328	3	4	210	1	0	0	0	0	1	0	0	0	1197	1377	48	4	2862	4	ATP8A2	13	26402328	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	730821	26402328	88767550	518	37754											
WASF3	10810	broad.mit.edu	37	chr13	27254257	27254257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaagagtgggagagaaGgaaaatgggcattgagttta	18	7	15	1	0	0	4	0	1	0	3	0	7	0	6	0	3	0	2	0	3	7	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:27254257G>T	ENST00000361042.4	+	7	851	c.626G>T	c.(625-627)aGg>aTg	p.R209M	WASF3_ENST00000335327.5_Intron			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	208					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TGGGAGAGAAGGAAAATGGGC	0.453													9	26					7.48243e-07	1.56159e-06	1	0	T	27254257	G	T	27254257	3	4	210	1	0	0	0	0	1	0	0	0	17350	1015	35	4		4	WASF3	13	27254257	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	851929	27254257	87915621	519	37755											
FLT3	2322	broad.mit.edu	37	chr13	28624246	28624246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttacctattgtgaacagcCtggtgcattccctgcccagt	7	13	9	12	0	0	1	0	1	0	0	1	1	1	1	4	1	5	2	4	1	3	4	rs61729144	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:28624246C>A	ENST00000380982.4	-	6	809	c.728G>T	c.(727-729)aGg>aTg	p.R243M	FLT3_ENST00000537084.1_Missense_Mutation_p.R243M|FLT3_ENST00000241453.7_Missense_Mutation_p.R243M			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	243					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTGAACAGCCTGGTGCATTC	0.428			"Mis, O"		"AML, ALL"								21	101					4.35082e-09	9.52285e-09	1	0	A	28624246	C	A	28624246	3	1	210	1	0	0	0	0	1	0	0	0	5987	681	24	4	2329	4	FLT3	13	28624246	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1369989	28624246	86545632	520	37756											
FRY	10129	broad.mit.edu	37	chr13	32813472	32813472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttctgtaaggatatagccGaaaggattgctcaggtatga	13	11	12	5	1	2	1	1	1	1	0	2	4	2	3	1	3	2	4	1	3	5	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:32813472G>A	ENST00000380250.3	+	45	6998	c.6502G>A	c.(6502-6504)Gaa>Aaa	p.E2168K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGATATAGCCGAAAGGATTGC	0.463													6	58					0	0	0	0	A	32813472	G	A	32813472	3	1	210	1	0	0	0	0	1	0	0	0	6111	1059	37	1	6680	1	FRY	13	32813472	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	4189226	32813472	82356406	521	37757											
PDS5B	23047	broad.mit.edu	37	chr13	33271024	33271024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggccatattttcaaaaGtgatggttattacaagtaag	15	13	8	5	0	2	1	2	1	0	0	2	1	2	1	1	2	1	2	1	2	8	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:33271024G>T	ENST00000315596.10	+	15	1771	c.1585G>T	c.(1585-1587)Gtg>Ttg	p.V529L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	529					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ATTTTCAAAAGTGATGGTTAT	0.259													18	54					2.21704e-12	5.14176e-12	1	0	T	33271024	G	T	33271024	3	4	210	1	0	0	0	0	1	0	0	0	11763	1029	36	4	1639	4	PDS5B	13	33271024	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	457552	33271024	81898854	522	37758											
SOHLH2	54937	broad.mit.edu	37	chr13	36744767	36744767	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctgaaggtaaatgaatTgaaatgttctgatttgttac	13	15	10	3	0	1	4	0	4	1	0	1	4	1	4	0	2	1	4	0	2	6	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:36744767T>G	ENST00000379881.3	-	10	1246	c.1158A>C	c.(1156-1158)tcA>tcC	p.S386S	SOHLH2_ENST00000554962.1_Silent_p.S463S|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.S463S	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GTAAATGAATTGAAATGTTCT	0.493													7	63					0	0	0	0	G	36744767	T	G	36744767	2	3	210	1	0	0	0	0	0	0	0	1	15012	1799	63	5		5	SOHLH2	13	36744767	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	3473743	36744767	78425111	523	37759											
POSTN	10631	broad.mit.edu	37	chr13	38143521	38143521	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggtgaccttggtgacctCtgagaggatacatgtttata	9	15	11	6	0	1	3	0	3	1	1	1	5	1	4	2	3	1	1	2	3	3	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:38143521C>T	ENST00000379747.4	-	21	2465		c.e21-1		POSTN_ENST00000541179.1_Intron|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000497145.1_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379749.4_Intron|POSTN_ENST00000379742.4_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTGGTGACCTCTGAGAGGATA	0.348													9	48					0	0	0	0	T	38143521	C	T	38143521	5	4	210	1	0	0	0	0	0	0	1	0	12331	927	32	2	175	2	POSTN	13	38143521	Splice_Site	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1398754	38143521	77026357	524	37760											
ZC3H13	23091	broad.mit.edu	37	chr13	46542018	46542018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgcctcgtatctctcctCtctctctcgcgctctctgtc	1	16	5	19	3	5	0	0	0	5	0	13	0	6	0	2	0	1	2	2	0	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:46542018C>T	ENST00000242848.4	-	15	4290	c.3942G>A	c.(3940-3942)gaG>gaA	p.E1314E	ZC3H13_ENST00000282007.3_Silent_p.E1314E|ZC3H13_ENST00000378921.2_Silent_p.E270E			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1314							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		tatctctcctctctctctcgc	0.498													12	66					0	0	0	0	T	46542018	C	T	46542018	2	4	210	1	0	0	0	0	0	0	0	1	17660	912	32	2		2	ZC3H13	13	46542018	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	8398497	46542018	68627860	525	37761											
PCDH9	5101	broad.mit.edu	37	chr13	67801710	67801710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcaccaaaaatgtacCggatttcagcattactgcct	11	10	8	12	1	1	0	1	0	0	0	1	1	1	1	4	2	4	3	4	2	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:67801710C>T	ENST00000544246.1	-	2	1554	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	PCDH9_ENST00000456367.1_Missense_Mutation_p.R288Q|PCDH9_ENST00000377861.3_Missense_Mutation_p.R288Q|PCDH9_ENST00000328454.5_Missense_Mutation_p.R288Q|PCDH9_ENST00000377865.2_Missense_Mutation_p.R288Q	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	288	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R288L(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAAAATGTACCGGATTTCAGC	0.463													17	95					0	0	0	0	T	67801710	C	T	67801710	3	4	210	1	0	0	0	0	1	0	0	0	11589	652	23	1	2866	1	PCDH9	13	67801710	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	21259692	67801710	47368168	526	37762											
KLHL1	57626	broad.mit.edu	37	chr13	70456497	70456497	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatgtcatacttgaccCacatcatcaatgcatggaag	12	11	7	11	0	4	1	3	1	1	0	4	2	4	2	1	1	3	2	1	1	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:70456497C>A	ENST00000377844.4	-	5	1904	c.1145G>T	c.(1144-1146)tGg>tTg	p.W382L	KLHL1_ENST00000545028.1_Missense_Mutation_p.W189L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	382					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATACTTGACCCACATCATCAA	0.453													10	45					0.000442599	0.000856344	1	0	A	70456497	C	A	70456497	3	1	210	1	0	0	0	0	1	0	0	0	8417	595	21	4	1129	4	KLHL1	13	70456497	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2654787	70456497	44713381	527	37763											
TBC1D4	9882	broad.mit.edu	37	chr13	75930347	75930348	+	Frame_Shift_Ins	INS	-	-	C																															aagtccaggctctggagactINScccggcagataaagccaaag																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:75930347_75930348insC	ENST00000377636.3	-	4	1556_1557	c.1210_1211insG	c.(1210-1212)gtcfs	p.V404fs	TBC1D4_ENST00000431480.2_Frame_Shift_Ins_p.V404fs|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Frame_Shift_Ins_p.V404fs	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	404	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTCTGGAGACTCCCGGCAGATA	0.431													13	43	---	---	---	---					C	75930348	-	C	75930347	7	5	210	1	0	1	1	0	0	0	0	0	15716	1551	54	0	2757	0	TBC1D4	13	75930347	Frame_Shift_Ins	INS	-	TCGA-CR-7388-01A-11D-2012-08	5473850	75930347	39239531	528	37764											
SLITRK6	84189	broad.mit.edu	37	chr13	86369101	86369101	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcccaggggttatcctCaaggtcaatctgggttagca	9	10	12	10	0	3	0	2	0	1	0	5	0	5	0	2	4	1	4	2	4	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:86369101C>A	ENST00000400286.2	-	2	2141	c.1543G>T	c.(1543-1545)Gag>Tag	p.E515*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	515						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGGTTATCCTCAAGGTCAATC	0.423													10	81					0.000673444	0.0012944	1	0	A	86369101	C	A	86369101	4	1	210	1	0	0	0	0	0	1	0	0	14835	835	29	2	986	2	SLITRK6	13	86369101	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	10438754	86369101	28800777	529	37765											
SLITRK5	26050	broad.mit.edu	37	chr13	88329558	88329558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaggaccagcgccgtgactCctgcggtccggttgaatagc	7	7	14	13	5	0	2	0	2	0	0	2	4	2	3	4	3	3	1	4	3	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:88329558C>A	ENST00000325089.6	+	2	2134	c.1915C>A	c.(1915-1917)Cct>Act	p.P639T	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P398T	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	639						integral to membrane		p.P639T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGCCGTGACTCCTGCGGTCCG	0.622													12	66					7.03913e-09	1.52355e-08	1	0	A	88329558	C	A	88329558	3	1	210	1	0	0	0	0	1	0	0	0	14834	855	30	2	1917	2	SLITRK5	13	88329558	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1960457	88329558	26840320	530	37766											
NALCN	259232	broad.mit.edu	37	chr13	101944439	101944439	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaatgataacagcaataaAcacgttctgaaaaaaatcac	20	9	4	8	1	3	2	2	2	1	0	3	2	3	2	0	0	3	2	0	0	8	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:101944439A>G	ENST00000251127.6	-	9	1030	c.949T>C	c.(949-951)Ttt>Ctt	p.F317L	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.F317L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	317						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACAGCAATAAACACGTTCTGA	0.403													5	14					0	0	0	0	G	101944439	A	G	101944439	3	3	210	1	0	0	0	0	1	0	0	0	10218	43	2	5	4411	5	NALCN	13	101944439	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	13614881	101944439	13225439	531	37767											
TPP2	7174	broad.mit.edu	37	chr13	103282533	103282533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatcaatatacttggtcttCtagaggacctaggtaggtgc	12	12	10	7	0	3	1	1	0	2	1	3	2	3	2	1	4	2	1	1	4	7	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:103282533C>G	ENST00000376052.3	+	10	1248	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	TPP2_ENST00000376065.4_Missense_Mutation_p.S411C			P29144	TPP2_HUMAN	tripeptidyl peptidase II	411					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTTGGTCTTCTAGAGGACCT	0.413													14	41					0	0	0	0	G	103282533	C	G	103282533	3	3	210	1	0	0	0	0	1	0	0	0	16507	913	32	2	1270	2	TPP2	13	103282533	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1338094	103282533	11887345	532	37768											
KDELC1	79070	broad.mit.edu	37	chr13	103443611	103443611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgacttatctctcaccggCccatggtttccagaacagaa	10	10	7	14	1	2	3	1	1	1	2	4	3	3	3	4	2	1	1	4	2	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:103443611C>A	ENST00000376004.4	-	5	1178	c.842G>T	c.(841-843)gGc>gTc	p.G281V	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	281						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTCTCACCGGCCCATGGTTTC	0.453													60	259					1.83847e-13	4.32102e-13	1	0	A	103443611	C	A	103443611	3	1	210	1	0	0	0	0	1	0	0	0	8170	739	26	4	690	4	KDELC1	13	103443611	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	161078	103443611	11726267	533	37769											
TUBGCP3	10426	broad.mit.edu	37	chr13	113208415	113208415	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggctcctctggtccgTgtatcttctgattttattat	5	18	8	10	1	3	1	0	1	3	0	6	1	6	1	3	2	0	2	3	2	3	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:113208415T>C	ENST00000261965.3	-	8	1108	c.922A>G	c.(922-924)Acg>Gcg	p.T308A	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.T308A	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	308					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CTCTGGTCCGTGTATCTTCTG	0.483													39	57					0	0	0	0	C	113208415	T	C	113208415	3	2	210	1	0	0	0	0	1	0	0	0	16863	1696	59	5	1861	5	TUBGCP3	13	113208415	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	9764804	113208415	1961463	534	37770											
TOX4	9878	broad.mit.edu	37	chr14	21960898	21960898	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattattaccaaacaaatgTtgccctcttctattactatg	12	16	4	9	0	2	1	0	1	2	0	2	1	2	1	2	0	4	1	2	0	7	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:21960898T>G	ENST00000405508.1	+	8	1399	c.1123T>G	c.(1123-1125)Ttg>Gtg	p.L375V	TOX4_ENST00000448790.2_Missense_Mutation_p.L352V|TOX4_ENST00000262709.3_Missense_Mutation_p.L375V			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	375						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CAAACAAATGTTGCCCTCTTC	0.493													6	124					0	0	0	0	G	21960898	T	G	21960898	3	3	210	1	0	0	0	0	1	0	0	0	16475	1722	60	5	1149	5	TOX4	14	21960898	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08		21960898	85388642	535	37771											
AP1G2	8906	broad.mit.edu	37	chr14	24034829	24034829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccacctgcaggaaggggtCgctgactccagatatgctgt	8	8	12	13	1	0	2	0	1	0	1	2	3	1	3	4	3	2	3	4	3	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:24034829C>T	ENST00000308724.5	-	6	1482	c.727G>A	c.(727-729)Gac>Aac	p.D243N	AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.D243N	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	243					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AGGAAGGGGTCGCTGACTCCA	0.557													9	22					0	0	0	0	T	24034829	C	T	24034829	3	4	210	1	0	0	0	0	1	0	0	0	734	884	31	1	1694	1	AP1G2	14	24034829	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2073931	24034829	83314711	536	37772											
TM9SF1	10548	broad.mit.edu	37	chr14	24659669	24659669	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaatctcccgggcgatgttCttggtgcgacagggtgcatc	6	10	15	10	3	2	0	0	0	2	0	4	3	2	1	1	4	2	2	1	4	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:24659669C>G	ENST00000556387.1	-	9	2004	c.1971G>C	c.(1969-1971)aaG>aaC	p.K657N	TM9SF1_ENST00000528669.1_Missense_Mutation_p.K448N|TM9SF1_ENST00000530611.1_Missense_Mutation_p.K657N|TM9SF1_ENST00000396854.4_Missense_Mutation_p.K448N|TM9SF1_ENST00000261789.4_Missense_Mutation_p.K448N|TM9SF1_ENST00000524835.1_Missense_Mutation_p.K361N			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	448					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GGGCGATGTTCTTGGTGCGAC	0.547													19	58					0	0	0	0	G	24659669	C	G	24659669	3	3	210	1	0	0	0	0	1	0	0	0	16071	912	32	2	527	2	TM9SF1	14	24659669	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	624840	24659669	82689871	537	37773											
PRKD1	5587	broad.mit.edu	37	chr14	30066890	30066890	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcaggagccaggtaagcGggggtacccaccactgacct	10	5	12	14	1	1	1	1	1	0	0	1	2	1	2	5	4	3	2	5	4	2	2	rs147092748		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:30066890G>A	ENST00000331968.5	-	16	2470	c.2241C>T	c.(2239-2241)ccC>ccT	p.P747P	PRKD1_ENST00000415220.2_Silent_p.P755P	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	747	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCAGGTAAGCGGGGGTACCCA	0.488													22	38					0	0	0	0	A	30066890	G	A	30066890	2	1	210	1	0	0	0	0	0	0	0	1	12598	1103	39	1		1	PRKD1	14	30066890	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	5407221	30066890	77282650	538	37774											
NKX2-1	7080	broad.mit.edu	37	chr14	36988380	36988380	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcggcggtgacggcgccGtggtgccccacggcgtgctg	3	6	19	13	7	0	1	0	1	0	0	0	1	0	1	3	6	2	1	3	6	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:36988380G>A	ENST00000518149.1	-	2	788	c.183C>T	c.(181-183)caC>caT	p.H61H	NKX2-1_ENST00000522719.2_Silent_p.H61H|NKX2-1_ENST00000498187.2_Silent_p.H61H|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Silent_p.H91H			P43699	NKX21_HUMAN	NK2 homeobox 1	61				H -> P (in Ref. 5; BAA23527/BAA23529).	epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TGACGGCGCCGTGGTGCCCCA	0.746			A		NSCLC								11	7					0	0	0	0	A	36988380	G	A	36988380	2	1	210	1	0	0	0	0	0	0	0	1	10519	1136	40	1		1	NKX2-1	14	36988380	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	6921490	36988380	70361160	539	37775											
FANCM	57697	broad.mit.edu	37	chr14	45605509	45605509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctaccaattgcccagtgcGggactaccagctgcacattt	9	9	8	15	1	0	0	0	0	0	0	0	1	0	1	4	1	6	2	4	1	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:45605509G>C	ENST00000267430.5	+	1	360	c.275G>C	c.(274-276)cGg>cCg	p.R92P	FANCM_ENST00000542564.2_Missense_Mutation_p.R92P|FANCM_ENST00000556036.1_Missense_Mutation_p.R92P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	92					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGCCCAGTGCGGGACTACCAG	0.597								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	53					0	0	0	0	C	45605509	G	C	45605509	3	2	210	1	0	0	0	0	1	0	0	0	5716	1116	39	3	277	3	FANCM	14	45605509	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	8617129	45605509	61744031	540	37776											
MGAT2	4247	broad.mit.edu	37	chr14	50088061	50088061	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcctgcggcttcgtcctctgGagcagcaatgggcgacaaag	8	7	14	12	3	1	0	0	0	1	0	3	2	2	1	2	3	3	3	2	3	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:50088061G>A	ENST00000305386.2	+	1	573	c.75G>A	c.(73-75)tgG>tgA	p.W25*	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	25					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCGTCCTCTGGAGCAGCAATG	0.692													5	25					0	0	0	0	A	50088061	G	A	50088061	4	1	210	1	0	0	0	0	0	1	0	0	9612	1183	41	2	77	2	MGAT2	14	50088061	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	4482552	50088061	57261479	541	37777											
PYGL	5836	broad.mit.edu	37	chr14	51375033	51375033	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacacttgacataggcttCgtagtctgcaaagactttaa	12	13	8	8	1	1	3	0	2	1	1	2	3	1	3	0	1	1	3	0	1	4	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:51375033C>A	ENST00000216392.7	-	19	2667	c.2335G>T	c.(2335-2337)Gaa>Taa	p.E779*	PYGL_ENST00000532462.1_Nonsense_Mutation_p.E779*|PYGL_ENST00000544180.2_Nonsense_Mutation_p.E745*	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	779					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACATAGGCTTCGTAGTCTGCA	0.303													14	41					2.31682e-05	4.65224e-05	1	0	A	51375033	C	A	51375033	4	1	210	1	0	0	0	0	0	1	0	0	12943	893	31	3	216	3	PYGL	14	51375033	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1286972	51375033	55974507	542	37778											
PYGL	5836	broad.mit.edu	37	chr14	51390809	51390809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatctgagccaatcatctgCttcttctacctgcaaaagga	12	12	6	11	0	5	1	1	1	4	0	5	2	5	2	2	1	4	2	2	1	5	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:51390809C>G	ENST00000216392.7	-	5	870	c.538G>C	c.(538-540)Gca>Cca	p.A180P	PYGL_ENST00000532462.1_Missense_Mutation_p.A180P|PYGL_ENST00000544180.2_Missense_Mutation_p.A146P	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	180					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CAATCATCTGCTTCTTCTACC	0.383													8	50					0	0	0	0	G	51390809	C	G	51390809	3	3	210	1	0	0	0	0	1	0	0	0	12943	797	28	4	2069	4	PYGL	14	51390809	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	15776	51390809	55958731	543	37779											
BMP4	652	broad.mit.edu	37	chr14	54417231	54417231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctaatcctgacatgctggCcctggtgggtccgagtctga	6	10	14	11	1	1	2	0	2	1	0	3	3	3	2	3	4	1	2	3	4	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:54417231C>G	ENST00000245451.4	-	4	1139	c.746G>C	c.(745-747)gGc>gCc	p.G249A	BMP4_ENST00000417573.1_Missense_Mutation_p.G249A|BMP4_ENST00000559087.1_Missense_Mutation_p.G249A|BMP4_ENST00000558984.1_Missense_Mutation_p.G249A	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	249					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GACATGCTGGCCCTGGTGGGT	0.617													23	67					0	0	0	0	G	54417231	C	G	54417231	3	3	210	1	0	0	0	0	1	0	0	0	1467	739	26	4	484	4	BMP4	14	54417231	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3026422	54417231	52932309	544	37780											
KCNH5	27133	broad.mit.edu	37	chr14	63511873	63511873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccaaaaatgtgttctgcGgtgccaccagccctctcttg	7	12	8	14	1	3	0	0	0	3	0	5	0	3	0	4	1	3	1	4	1	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:63511873G>A	ENST00000322893.7	-	1	300	c.32C>T	c.(31-33)cCg>cTg	p.P11L	KCNH5_ENST00000394964.2_Intron|KCNH5_ENST00000420622.2_Missense_Mutation_p.P11L|KCNH5_ENST00000394968.1_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	11					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGTGTTCTGCGGTGCCACCAG	0.647													7	61					0	0	0	0	A	63511873	G	A	63511873	3	1	210	1	0	0	0	0	1	0	0	0	8088	1116	39	1	3012	1	KCNH5	14	63511873	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	9094642	63511873	43837667	545	37781											
PPP2R5E	5529	broad.mit.edu	37	chr14	64006301	64006301	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccttgagacctaaactGtgaggaactttgcgacctct	9	12	9	11	1	1	2	0	2	1	1	1	5	1	3	3	1	4	0	3	1	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:64006301G>C	ENST00000337537.3	-	2	705	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.Q35E	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	35					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GACCTAAACTGTGAGGAACTT	0.463													7	72					0	0	0	0	C	64006301	G	C	64006301	3	2	210	1	0	0	0	0	1	0	0	0	12472	1386	48	4	1352	4	PPP2R5E	14	64006301	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	494428	64006301	43343239	546	37782											
SPTB	6710	broad.mit.edu	37	chr14	65261194	65261194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggtctcacctttcccctCggtgaacttcagggtggctg	4	13	11	13	1	2	1	2	1	1	0	5	1	3	1	3	4	1	1	3	4	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:65261194C>T	ENST00000389722.3	-	12	1839	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	SPTB_ENST00000389721.5_Missense_Mutation_p.E596K|SPTB_ENST00000389720.3_Missense_Mutation_p.E596K|SPTB_ENST00000542895.1_Missense_Mutation_p.E596K|SPTB_ENST00000556626.1_Missense_Mutation_p.E596K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	596					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTTTCCCCTCGGTGAACTTC	0.532													17	154					0	0	0	0	T	65261194	C	T	65261194	3	4	210	1	0	0	0	0	1	0	0	0	15208	893	31	1	5365	1	SPTB	14	65261194	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1254893	65261194	42088346	547	37783											
PCNX	22990	broad.mit.edu	37	chr14	71495434	71495434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagccactacaagcctgcttGcagcactttacagttttatc	10	13	6	12	0	0	0	0	0	0	0	1	0	0	0	2	0	7	4	2	0	5	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:71495434G>C	ENST00000304743.2	+	16	3930	c.3484G>C	c.(3484-3486)Gca>Cca	p.A1162P	PCNX_ENST00000238570.5_Missense_Mutation_p.A1162P|PCNX_ENST00000439984.3_Missense_Mutation_p.A1051P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1162						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAGCCTGCTTGCAGCACTTTA	0.308													44	46					0	0	0	0	C	71495434	G	C	71495434	3	2	210	1	0	0	0	0	1	0	0	0	11662	1319	46	4	3546	4	PCNX	14	71495434	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	6234240	71495434	35854106	548	37784											
ABCD4	5826	broad.mit.edu	37	chr14	74759945	74759945	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcctcatgtgctccacatgCccagctctgacaaggaaagg	10	8	10	13	0	2	1	1	1	1	0	4	2	4	2	3	2	3	2	3	2	2	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:74759945C>A	ENST00000356924.4	-	8	869	c.726G>T	c.(724-726)ggG>ggT	p.G242G	ABCD4_ENST00000557588.1_Intron|ABCD4_ENST00000298816.7_Silent_p.G138G|ABCD4_ENST00000557554.1_Intron|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	242	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GCTCCACATGCCCAGCTCTGA	0.597													14	72					2.32078e-09	5.118e-09	1	0	A	74759945	C	A	74759945	2	1	210	1	0	0	0	0	0	0	0	1	63	726	26	4		4	ABCD4	14	74759945	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3264511	74759945	32589595	549	37785											
YLPM1	56252	broad.mit.edu	37	chr14	75248679	75248679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacaagggatacctcctCagttaacagcagccccagtt	11	9	7	14	0	1	0	1	0	0	0	3	1	3	1	5	1	4	3	5	1	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:75248679C>A	ENST00000325680.7	+	4	2057	c.1933C>A	c.(1933-1935)Cag>Aag	p.Q645K	YLPM1_ENST00000552421.1_Missense_Mutation_p.Q645K|YLPM1_ENST00000238571.3_Missense_Mutation_p.Q450K	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATACCTCCTCAGTTAACAGC	0.547													16	48					1.3612e-06	2.82736e-06	1	0	A	75248679	C	A	75248679	3	1	210	1	0	0	0	0	1	0	0	0	17582	827	29	2	1947	2	YLPM1	14	75248679	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	488734	75248679	32100861	550	37786											
YLPM1	56252	broad.mit.edu	37	chr14	75248700	75248700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agttaacagcagccccagttCcaccagcctccagttcacag	11	7	7	16	0	1	0	1	0	0	0	3	0	3	0	6	0	4	4	6	0	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:75248700C>T	ENST00000325680.7	+	4	2078	c.1954C>T	c.(1954-1956)Cca>Tca	p.P652S	YLPM1_ENST00000552421.1_Missense_Mutation_p.P652S|YLPM1_ENST00000238571.3_Missense_Mutation_p.P457S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGCCCCAGTTCCACCAGCCTC	0.547													15	47					0	0	0	0	T	75248700	C	T	75248700	3	4	210	1	0	0	0	0	1	0	0	0	17582	855	30	2	1968	2	YLPM1	14	75248700	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	21	75248700	32100840	551	37787											
EIF2B2	8892	broad.mit.edu	37	chr14	75473335	75473335	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggccctgagagctgtgacagGaactcacactctggcactgg	9	7	13	12	0	2	2	1	2	1	1	2	4	2	3	1	4	2	2	1	4	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:75473335G>C	ENST00000266126.5	+	6	829	c.749G>C	c.(748-750)gGa>gCa	p.G250A	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	250					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GCTGTGACAGGAACTCACACT	0.527													35	202					0	0	0	0	C	75473335	G	C	75473335	3	2	210	1	0	0	0	0	1	0	0	0	5037	1174	41	2	771	2	EIF2B2	14	75473335	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	224635	75473335	31876205	552	37788											
DYNC1H1	1778	broad.mit.edu	37	chr14	102500686	102500686	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtacagatattgccaggacgGaatacctttccaatgctgat	12	11	9	9	1	0	2	0	1	0	1	1	4	1	4	3	2	4	2	3	2	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:102500686G>C	ENST00000360184.4	+	56	10815	c.10651G>C	c.(10651-10653)Gaa>Caa	p.E3551Q	DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3551					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCCAGGACGGAATACCTTTC	0.502													6	68					0	0	0	0	C	102500686	G	C	102500686	3	2	210	1	0	0	0	0	1	0	0	0	4877	1175	41	2	10873	2	DYNC1H1	14	102500686	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	27027351	102500686	4848854	553	37789											
ATP10A	57194	broad.mit.edu	37	chr15	25953204	25953204	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccagggaggattcggcttCtaggtggctttgcaaccagc	7	11	13	10	1	1	0	0	0	1	0	3	2	2	2	2	5	3	3	2	5	2	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:25953204C>G	ENST00000356865.6	-	12	2605	c.2494G>C	c.(2494-2496)Gaa>Caa	p.E832Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	832					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GATTCGGCTTCTAGGTGGCTT	0.537													9	48					0	0	0	0	G	25953204	C	G	25953204	3	3	210	1	0	0	0	0	1	0	0	0	1120	922	32	2	2045	2	ATP10A	15	25953204	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08		25953204	76578188	554	37790											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32929051	32929051	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caactataaaatgttattcaActcagatgaagatggaacat	18	11	6	6	0	2	3	2	1	0	2	2	4	2	4	0	1	3	1	0	1	8	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:32929051A>T	ENST00000361627.3	+	12	2799	c.2077A>T	c.(2077-2079)Act>Tct	p.T693S	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.T504S|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.T504S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	693					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ATGTTATTCAACTCAGATGAA	0.318													4	24					0	0	0	0	T	32929051	A	T	32929051	3	4	210	1	0	0	0	0	1	0	0	0	865	43	2	5	2146	5	ARHGAP11A	15	32929051	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	6975847	32929051	69602341	555	37791											
DUOXA1	90527	broad.mit.edu	37	chr15	45409770	45409770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaggctccaaaagatggaaGaaggcccgggcatcacgcct	12	5	13	11	2	1	2	1	0	0	2	2	3	2	3	3	4	0	3	3	4	5	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:45409770G>C	ENST00000267803.4	-	11	1794	c.1395C>G	c.(1393-1395)ttC>ttG	p.F465L	DUOXA2_ENST00000323030.5_Intron|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000430224.2_Missense_Mutation_p.F420L|DUOXA1_ENST00000559014.1_Missense_Mutation_p.F465L	NM_144565.2	NP_653166.2	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	0					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		AAAGATGGAAGAAGGCCCGGG	0.562													4	7					0	0	0	0	C	45409770	G	C	45409770	3	2	210	1	0	0	0	0	1	0	0	0	4838	933	33	2	60	2	DUOXA1	15	45409770	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	12480719	45409770	57121622	556	37792											
GALK2	2585	broad.mit.edu	37	chr15	49584728	49584728	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatcctgagtccaaacactCaagatggtgagttggctgga	13	9	11	8	0	1	3	1	2	0	1	3	4	3	4	2	3	1	2	2	3	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:49584728C>G	ENST00000327171.3	+	8	1160	c.928C>G	c.(928-930)Caa>Gaa	p.Q310E	GALK2_ENST00000544523.1_Missense_Mutation_p.Q297E|GALK2_ENST00000560031.1_Missense_Mutation_p.Q321E|GALK2_ENST00000396509.2_Missense_Mutation_p.Q297E|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000543495.1_Missense_Mutation_p.Q192E|GALK2_ENST00000559454.1_Missense_Mutation_p.Q297E	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	321					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		TCCAAACACTCAAGATGGTGA	0.458													6	32					0	0	0	0	G	49584728	C	G	49584728	3	3	210	1	0	0	0	0	1	0	0	0	6253	827	29	2	1015	2	GALK2	15	49584728	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4174958	49584728	52946664	557	37793											
SLTM	79811	broad.mit.edu	37	chr15	59209166	59209166	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcatcttccacagaagcatCtccactcaactcatctgctt	11	12	3	15	0	6	1	3	0	3	1	8	1	7	1	2	0	3	2	2	0	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:59209166C>G	ENST00000380516.2	-	3	370	c.283G>C	c.(283-285)Gat>Cat	p.D95H	SLTM_ENST00000557950.1_5'UTR|SLTM_ENST00000536328.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	95					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAGAAGCATCTCCACTCAAC	0.323													3	19					0	0	0	0	G	59209166	C	G	59209166	3	3	210	1	0	0	0	0	1	0	0	0	14842	913	32	2	2897	2	SLTM	15	59209166	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	9624438	59209166	43322226	558	37794											
CILP	8483	broad.mit.edu	37	chr15	65497636	65497636	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggtacctgtacagtccTggcccatgcagtgctgaccc	6	9	13	13	0	0	1	0	1	0	0	1	1	1	1	4	3	4	4	4	3	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:65497636T>A	ENST00000261883.4	-	5	759	c.593A>T	c.(592-594)cAg>cTg	p.Q198L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	198	TSP type-1.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTACAGTCCTGGCCCATGCA	0.592													19	96					0	0	0	0	A	65497636	T	A	65497636	3	1	210	1	0	0	0	0	1	0	0	0	3458	1580	55	5	2981	5	CILP	15	65497636	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	6288470	65497636	37033756	559	37795											
CSPG4	1464	broad.mit.edu	37	chr15	75977614	75977614	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtccgtcctccttctgCagggctccatgctggggtgg	3	11	15	12	1	1	1	0	1	1	0	5	1	5	1	4	5	2	3	4	5	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:75977614C>T	ENST00000308508.5	-	4	4310	c.4218G>A	c.(4216-4218)ctG>ctA	p.L1406L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1406	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCTCCTTCTGCAGGGCTCCAT	0.672													5	56					0	0	0	0	T	75977614	C	T	75977614	2	4	210	1	0	0	0	0	0	0	0	1	3992	697	25	4		4	CSPG4	15	75977614	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	10479978	75977614	26553778	560	37796											
RASGRF1	5923	broad.mit.edu	37	chr15	79320138	79320138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcacagccttcgatgatCatgcgctcgatggccaggtt	8	11	10	12	3	2	1	2	1	1	0	5	3	2	1	2	2	2	2	2	2	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:79320138C>A	ENST00000419573.3	-	9	1600	c.1326G>T	c.(1324-1326)atG>atT	p.M442I	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.M442I	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	442					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTCGATGATCATGCGCTCGA	0.562													6	102					2.0095e-06	4.13957e-06	1	0	A	79320138	C	A	79320138	3	1	210	1	0	0	0	0	1	0	0	0	13154	826	29	2	2575	2	RASGRF1	15	79320138	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3342524	79320138	23211254	561	37797											
KIAA1199	57214	broad.mit.edu	37	chr15	81225753	81225753	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccggcacccagactgcatCaatgttcccgactggagagg	9	7	12	13	2	1	2	1	0	0	2	3	4	3	2	3	3	1	3	3	3	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:81225753C>G	ENST00000394685.3	+	23	3380	c.2961C>G	c.(2959-2961)atC>atG	p.I987M	KIAA1199_ENST00000356249.5_Missense_Mutation_p.I987M|KIAA1199_ENST00000220244.3_Missense_Mutation_p.I987M|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	987										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAGACTGCATCAATGTTCCCG	0.572													16	65					0	0	0	0	G	81225753	C	G	81225753	3	3	210	1	0	0	0	0	1	0	0	0	8264	816	29	2	3043	2	KIAA1199	15	81225753	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1905615	81225753	21305639	562	37798											
ACAN	176	broad.mit.edu	37	chr15	89414699	89414699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgagacctgggtggatgctGagcgccggtgtcgggagcag	6	6	20	9	4	0	2	0	1	0	1	1	5	0	4	2	4	3	2	2	4	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:89414699G>A	ENST00000439576.2	+	14	7407	c.7033G>A	c.(7033-7035)Gag>Aag	p.E2345K	ACAN_ENST00000561243.1_Missense_Mutation_p.E2345K|ACAN_ENST00000352105.7_Missense_Mutation_p.E2307K|ACAN_ENST00000559004.1_Missense_Mutation_p.E2307K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2345					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGTGGATGCTGAGCGCCGGTG	0.637													5	32					0	0	0	0	A	89414699	G	A	89414699	3	1	210	1	0	0	0	0	1	0	0	0	117	1291	45	2	7083	2	ACAN	15	89414699	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	8188946	89414699	13116693	563	37799											
ST8SIA2	8128	broad.mit.edu	37	chr15	92981809	92981809	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaacagcggctgtgggCaggagattgacgcccacagc	9	6	15	11	2	0	3	0	2	0	1	0	4	0	3	1	3	4	3	1	3	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:92981809C>T	ENST00000268164.3	+	4	754	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	ST8SIA2_ENST00000539113.1_Nonsense_Mutation_p.Q152*	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	173					axon guidance|N-glycan processing|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)			CGGCTGTGGGCAGGAGATTGA	0.602													5	40					0	0	0	0	T	92981809	C	T	92981809	4	4	210	1	0	0	0	0	0	1	0	0	15322	711	25	4	531	4	ST8SIA2	15	92981809	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3567110	92981809	9549583	564	37800											
MCTP2	55784	broad.mit.edu	37	chr15	94901811	94901811	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgaagtgtggggaaaggAcaacaaaaagcatgaggaac	18	5	13	5	0	0	2	0	2	0	0	0	5	0	5	0	4	3	1	0	4	6	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:94901811A>T	ENST00000357742.4	+	9	1271	c.1271A>T	c.(1270-1272)gAc>gTc	p.D424V	MCTP2_ENST00000557742.1_Missense_Mutation_p.D12V|MCTP2_ENST00000331706.4_Missense_Mutation_p.D12V|MCTP2_ENST00000451018.3_Missense_Mutation_p.D424V|MCTP2_ENST00000543482.1_3'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	424	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGGGGAAAGGACAACAAAAAG	0.502													6	21					0	0	0	0	T	94901811	A	T	94901811	3	4	210	1	0	0	0	0	1	0	0	0	9470	275	10	5	1305	5	MCTP2	15	94901811	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	1920002	94901811	7629581	565	37801											
TARSL2	123283	broad.mit.edu	37	chr15	102215919	102215919	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgcaaaaactgcaaacAcccctttatttcttcttcaa	14	13	3	11	0	3	1	1	0	2	1	3	1	3	1	2	0	4	2	2	0	5	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:102215919A>T	ENST00000335968.3	-	13	1888	c.1672T>A	c.(1672-1674)Tgt>Agt	p.C558S		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	558					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AACTGCAAACACCCCTTTATT	0.328													19	47					0	0	0	0	T	102215919	A	T	102215919	3	4	210	1	0	0	0	0	1	0	0	0	15652	159	6	5	764	5	TARSL2	15	102215919	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	7314108	102215919	315473	566	37802											
CRAMP1L	57585	broad.mit.edu	37	chr16	1720768	1720768	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgttggatggaaactcGcgggactcatttgtgtccag	8	12	13	8	2	1	0	1	0	0	0	3	3	2	3	1	3	2	2	1	3	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:1720768G>C	ENST00000397412.3	+	20	3702	c.3603G>C	c.(3601-3603)tcG>tcC	p.S1201S	CRAMP1L_ENST00000293925.5_Silent_p.S1201S|CRAMP1L_ENST00000262317.4_Silent_p.S576S|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.S1198S			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1201	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						ATGGAAACTCGCGGGACTCAT	0.582													12	65					0	0	0	0	C	1720768	G	C	1720768	2	2	210	1	0	0	0	0	0	0	0	1	3876	1074	38	3		3	CRAMP1L	16	1720768	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08		1720768	88633985	567	37803											
PKD1	5310	broad.mit.edu	37	chr16	2159507	2159507	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccacagcaccaggcccacGatgggctcctccgccgtgag	7	4	12	18	3	0	1	0	1	0	0	2	2	2	1	6	2	1	2	6	2	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:2159507G>A	ENST00000262304.4	-	15	5869	c.5661C>T	c.(5659-5661)atC>atT	p.I1887I	PKD1_ENST00000423118.1_Silent_p.I1887I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1887	PKD 14.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCAGGCCCACGATGGGCTCCT	0.652													4	21					0	0	0	0	A	2159507	G	A	2159507	2	1	210	1	0	0	0	0	0	0	0	1	12035	1048	37	1		1	PKD1	16	2159507	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	438739	2159507	88195246	568	37804											
ZNF213	7760	broad.mit.edu	37	chr16	3187533	3187533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgcgtaccaaggagcagatCctggagctgctggtgctgga	8	8	15	10	1	0	1	0	0	0	1	1	4	1	4	2	4	6	5	2	4	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:3187533C>G	ENST00000396878.3	+	2	727	c.252C>G	c.(250-252)atC>atG	p.I84M	ZNF213_ENST00000416391.2_5'UTR|ZNF213_ENST00000574902.1_Missense_Mutation_p.I84M|ZNF213_ENST00000576416.1_Missense_Mutation_p.I84M	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	84	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						AGGAGCAGATCCTGGAGCTGC	0.662													9	61					0	0	0	0	G	3187533	C	G	3187533	3	3	210	1	0	0	0	0	1	0	0	0	17864	845	30	2	254	2	ZNF213	16	3187533	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1028026	3187533	87167220	569	37805											
MEFV	4210	broad.mit.edu	37	chr16	3304450	3304450	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctccccgcggagctggcGtttctgcgcagccggacctc	4	7	13	17	5	1	0	0	0	1	0	3	2	2	2	5	3	4	3	5	3	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:3304450G>A	ENST00000219596.1	-	2	657	c.618C>T	c.(616-618)aaC>aaT	p.N206N	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	206					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CGGAGCTGGCGTTTCTGCGCA	0.756													10	40					0	0	0	0	A	3304450	G	A	3304450	2	1	210	1	0	0	0	0	0	0	0	1	9528	1136	40	1		1	MEFV	16	3304450	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	116917	3304450	87050303	570	37806											
ZNF597	146434	broad.mit.edu	37	chr16	3487315	3487315	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcagagagttctactaaTggggtgtggttttcaatggt	9	16	12	4	0	3	1	2	0	1	1	3	2	3	1	0	4	1	2	0	4	4	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:3487315T>A	ENST00000301744.4	-	4	619	c.384A>T	c.(382-384)ccA>ccT	p.P128P	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GTTCTACTAATGGGGTGTGGT	0.413													24	76					0	0	0	0	A	3487315	T	A	3487315	2	1	210	1	0	0	0	0	0	0	0	1	18122	1451	51	5		5	ZNF597	16	3487315	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	182865	3487315	86867438	571	37807											
ABAT	18	broad.mit.edu	37	chr16	8860098	8860098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcagaggggcttctcccagGaggagctggagacgtgcatg	8	6	18	9	1	1	2	0	0	1	2	2	5	1	4	1	6	2	4	1	6	0	1	rs139121258	by1000genomes	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:8860098G>A	ENST00000396600.2	+	9	1512	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ABAT_ENST00000567812.1_Missense_Mutation_p.E207K|ABAT_ENST00000268251.8_Missense_Mutation_p.E192K|ABAT_ENST00000425191.2_Missense_Mutation_p.E192K|ABAT_ENST00000569156.1_Missense_Mutation_p.E192K	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	192					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CTTCTCCCAGGAGGAGCTGGA	0.552													9	26					0	0	0	0	A	8860098	G	A	8860098	3	1	210	1	0	0	0	0	1	0	0	0	27	1175	41	2	604	2	ABAT	16	8860098	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	5372783	8860098	81494655	572	37808											
RRN3	54700	broad.mit.edu	37	chr16	15179505	15179505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttatacttactatcatcttCatcatcagaatctgaaacat	14	16	2	9	0	6	2	4	1	2	1	6	2	6	2	0	0	3	0	0	0	6	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:15179505C>T	ENST00000198767.6	-	6	606	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	RRN3_ENST00000429751.2_Missense_Mutation_p.E145K|RRN3_ENST00000327307.7_Missense_Mutation_p.E142K|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000564131.1_Missense_Mutation_p.E175K|RRN3_ENST00000540462.1_Missense_Mutation_p.E26K|RRN3_ENST00000563559.1_Missense_Mutation_p.E175K	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	175					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CTATCATCTTCATCATCAGAA	0.408													5	26					0	0	0	0	T	15179505	C	T	15179505	3	4	210	1	0	0	0	0	1	0	0	0	13769	835	29	2	1484	2	RRN3	16	15179505	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	6319407	15179505	75175248	573	37809											
MYH11	4629	broad.mit.edu	37	chr16	15833949	15833949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatccatgaccaggatctCatcctccagtttcttgatct	9	14	5	13	0	4	2	2	2	3	0	8	3	7	3	4	1	0	1	4	1	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:15833949C>T	ENST00000338282.6	-	23	3062	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	MYH11_ENST00000576790.1_Missense_Mutation_p.E986K|MYH11_ENST00000396324.3_Missense_Mutation_p.E993K|MYH11_ENST00000300036.5_Missense_Mutation_p.E986K|MYH11_ENST00000452625.2_Missense_Mutation_p.E993K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	986					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCAGGATCTCATCCTCCAGT	0.517			T	CBFB	AML								7	119					0	0	0	0	T	15833949	C	T	15833949	3	4	210	1	0	0	0	0	1	0	0	0	10101	835	29	2	3073	2	MYH11	16	15833949	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	654444	15833949	74520804	574	37810											
GP2	2813	broad.mit.edu	37	chr16	20329553	20329553	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcagccttgtcttcagTgggggtggcatagcagttcc	7	11	14	9	0	3	0	2	0	1	0	4	0	4	0	2	4	2	3	2	4	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:20329553T>G	ENST00000302555.5	-	7	1356	c.1207A>C	c.(1207-1209)Act>Cct	p.T403P	GP2_ENST00000381362.4_Missense_Mutation_p.T406P|GP2_ENST00000381360.5_Missense_Mutation_p.T259P|GP2_ENST00000341642.5_Missense_Mutation_p.T256P			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	406	ZP.					anchored to membrane|extracellular region|plasma membrane				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						TTGTCTTCAGTGGGGGTGGCA	0.468													7	48					0	0	0	0	G	20329553	T	G	20329553	3	3	210	1	0	0	0	0	1	0	0	0	6631	1696	59	5	417	5	GP2	16	20329553	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	4495604	20329553	70025200	575	37811											
SCNN1G	6340	broad.mit.edu	37	chr16	23226476	23226476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgctctgttgtctgcGtcatcgagatcatcgaggtc	6	13	12	10	3	4	2	2	1	2	1	7	4	4	2	0	1	3	3	0	1	0	1	rs143742457		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:23226476G>A	ENST00000300061.2	+	13	1779	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	546					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTTGTCTGCGTCATCGAGAT	0.552													12	54					0	0	0	0	A	23226476	G	A	23226476	3	1	210	1	0	0	0	0	1	0	0	0	14017	1145	40	1	1682	1	SCNN1G	16	23226476	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2896923	23226476	67128277	576	37812											
GTF3C1	2975	broad.mit.edu	37	chr16	27561184	27561184	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gagcccctccagagcgacttCgtccaacaacgactccagcg	10	5	9	17	4	0	1	0	0	0	1	4	4	3	1	5	0	5	0	5	0	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:27561184C>G	ENST00000356183.4	-	1	43	c.28G>C	c.(28-30)Gaa>Caa	p.E10Q	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E10Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	10						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGAGCGACTTCGTCCAACAAC	0.687													10	23					0	0	0	0	G	27561184	C	G	27561184	3	3	210	1	0	0	0	0	1	0	0	0	6922	893	31	3	6449	3	GTF3C1	16	27561184	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	4334708	27561184	62793569	577	37813											
ITGAM	3684	broad.mit.edu	37	chr16	31308844	31308844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctctttcagatcggcgccTacttcggggcctccctctgc	3	12	10	16	3	3	1	1	0	2	1	7	1	4	1	3	3	2	0	3	3	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:31308844T>C	ENST00000544665.3	+	13	1437	c.1366T>C	c.(1366-1368)Tac>Cac	p.Y456H	ITGAM_ENST00000287497.8_Missense_Mutation_p.Y456H	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	456					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GATCGGCGCCTACTTCGGGGC	0.587													35	162					0	0	0	0	C	31308844	T	C	31308844	3	2	210	1	0	0	0	0	1	0	0	0	7940	1522	53	5	1416	5	ITGAM	16	31308844	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	3747660	31308844	59045909	578	37814											
TGFB1I1	7041	broad.mit.edu	37	chr16	31487345	31487345	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcgcaggtggtgacggctCtgggccgcgcctggcacccc	4	6	15	16	4	1	1	0	1	1	0	2	1	1	1	4	5	0	3	4	5	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:31487345C>G	ENST00000394863.3	+	8	857	c.727C>G	c.(727-729)Ctg>Gtg	p.L243V	TGFB1I1_ENST00000361773.3_Missense_Mutation_p.L226V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.L226V|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.L226V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	243	LIM zinc-binding 1.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GGTGACGGCTCTGGGCCGCGC	0.647													15	52					0	0	0	0	G	31487345	C	G	31487345	3	3	210	1	0	0	0	0	1	0	0	0	15911	912	32	2	757	2	TGFB1I1	16	31487345	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	178501	31487345	58867408	579	37815											
ABCC12	94160	broad.mit.edu	37	chr16	48145806	48145806	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctaataaaataacttcatCacaagactctaagaactgca	18	11	3	9	0	4	2	2	0	2	2	4	2	4	2	0	0	3	1	0	0	7	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:48145806C>G	ENST00000311303.3	-	14	2350	c.2005G>C	c.(2005-2007)Gat>Cat	p.D669H	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.D669H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	669	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATAACTTCATCACAAGACTCT	0.433													6	33					0	0	0	0	G	48145806	C	G	48145806	3	3	210	1	0	0	0	0	1	0	0	0	52	826	29	2	2138	2	ABCC12	16	48145806	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	16658461	48145806	42208947	580	37816											
CDH8	1006	broad.mit.edu	37	chr16	61851473	61851473	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcatgaacttcaagtaggTaagtcggtgaagagaagacc	14	10	11	6	1	2	4	2	2	0	2	3	5	2	4	1	2	1	2	1	2	6	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:61851473T>C	ENST00000577390.1	-	7	2141	c.1187A>G	c.(1186-1188)tAc>tGc	p.Y396C	CDH8_ENST00000577730.1_Missense_Mutation_p.Y396C|CDH8_ENST00000299345.6_Missense_Mutation_p.Y396C|CDH8_ENST00000584337.1_Missense_Mutation_p.Y396C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	396	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTCAAGTAGGTAAGTCGGTGA	0.483													9	39					0	0	0	0	C	61851473	T	C	61851473	3	2	210	1	0	0	0	0	1	0	0	0	3145	1638	57	5	1236	5	CDH8	16	61851473	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	13705667	61851473	28503280	581	37817											
C16orf70	80262	broad.mit.edu	37	chr16	67173918	67173918	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctattagcagatgccaaGatgcgggtatttgaacgttc	10	11	12	8	2	0	3	0	1	0	2	1	3	0	3	2	2	4	3	2	2	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:67173918G>A	ENST00000219139.3	+	9	881	c.693G>A	c.(691-693)aaG>aaA	p.K231K	C16orf70_ENST00000569600.1_Silent_p.K231K	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	231										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CAGATGCCAAGATGCGGGTAT	0.473													10	198					0	0	0	0	A	67173918	G	A	67173918	2	1	210	1	0	0	0	0	0	0	0	1	1842	933	33	2		2	C16orf70	16	67173918	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	5322445	67173918	23180835	582	37818											
HSD11B2	3291	broad.mit.edu	37	chr16	67470691	67470691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctggcagctcggcccCgccgccgctattaccccggc	3	6	12	20	6	0	0	0	0	0	0	1	0	0	0	6	3	3	5	6	3	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:67470691C>T	ENST00000326152.5	+	5	1135	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C		NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	335					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	AGCTCGGCCCCGCCGCCGCTA	0.637													17	140					0	0	0	0	T	67470691	C	T	67470691	3	4	210	1	0	0	0	0	1	0	0	0	7427	652	23	1	1021	1	HSD11B2	16	67470691	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	296773	67470691	22884062	583	37819											
CYB5B	80777	broad.mit.edu	37	chr16	69458700	69458700	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggcaaagcgcaactccttGaaggaactgtggcttgtgat	10	10	13	8	1	0	2	0	2	0	0	1	3	1	3	1	3	3	3	1	3	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:69458700G>C	ENST00000512062.1	+	1	273	c.102G>C	c.(100-102)ttG>ttC	p.L34F	CYB5B_ENST00000561792.1_Missense_Mutation_p.L34F|CYB5B_ENST00000515314.1_Missense_Mutation_p.L34F|CYB5B_ENST00000307892.8_Missense_Mutation_p.L38F			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	34	Cytochrome b5 heme-binding.				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				GCAACTCCTTGAAGGAACTGT	0.607													4	54					0	0	0	0	C	69458700	G	C	69458700	3	2	210	1	0	0	0	0	1	0	0	0	4155	1281	45	2	116	2	CYB5B	16	69458700	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1988009	69458700	20896053	584	37820											
CYB5B	80777	broad.mit.edu	37	chr16	69458737	69458737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatccatgggcgagtctacGatgtcacccgcttcctcaac	8	10	9	14	3	3	1	2	1	1	0	5	3	5	1	3	1	2	1	3	1	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:69458737G>A	ENST00000512062.1	+	1	310	c.139G>A	c.(139-141)Gat>Aat	p.D47N	CYB5B_ENST00000561792.1_Missense_Mutation_p.D47N|CYB5B_ENST00000515314.1_Missense_Mutation_p.D47N|CYB5B_ENST00000307892.8_Missense_Mutation_p.D51N			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	47	Cytochrome b5 heme-binding.				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				GCGAGTCTACGATGTCACCCG	0.587													5	40					0	0	0	0	A	69458737	G	A	69458737	3	1	210	1	0	0	0	0	1	0	0	0	4155	1058	37	1	153	1	CYB5B	16	69458737	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	37	69458737	20896016	585	37821											
SF3B3	23450	broad.mit.edu	37	chr16	70573046	70573046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatattttgatactgtacccGttgctgctgccatgtgtgtg	7	16	10	8	1	0	1	0	1	0	0	0	1	0	1	2	0	5	4	2	0	4	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:70573046G>T	ENST00000302516.5	+	8	1214	c.1003G>T	c.(1003-1005)Gtt>Ttt	p.V335F		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	335					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TACTGTACCCGTTGCTGCTGC	0.423													43	90					2.215e-12	5.14176e-12	1	0	T	70573046	G	T	70573046	3	4	210	1	0	0	0	0	1	0	0	0	14239	1145	40	3	1029	3	SF3B3	16	70573046	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1114309	70573046	19781707	586	37822											
HYDIN	54768	broad.mit.edu	37	chr16	71015349	71015349	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaagattccctctccgctCagagtgatattttctgggtc	8	13	10	10	1	3	3	1	1	2	2	6	4	4	4	2	2	0	1	2	2	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:71015349C>G	ENST00000393567.2	-	29	4605	c.4455G>C	c.(4453-4455)ctG>ctC	p.L1485L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1485								p.L1436L(1)|p.L1484L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCTCTCCGCTCAGAGTGATAT	0.483													10	63					0	0	0	0	G	71015349	C	G	71015349	2	3	210	1	0	0	0	0	0	0	0	1	7520	813	29	2		2	HYDIN	16	71015349	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	442303	71015349	19339404	587	37823											
PMFBP1	83449	broad.mit.edu	37	chr16	72158692	72158692	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtcctcaaggaggttctCttttaaggcggccatctcct	7	13	9	12	2	3	0	1	0	2	0	7	1	4	1	3	4	0	1	3	4	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:72158692C>A	ENST00000537465.1	-	17	2736	c.2578G>T	c.(2578-2580)Gag>Tag	p.E860*	PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.E855*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.E710*|PMFBP1_ENST00000537792.1_Nonsense_Mutation_p.E21*			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	860								p.E855*(1)		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)				AGGAGGTTCTCTTTTAAGGCG	0.567											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	138					8.00594e-06	1.62815e-05	1	0	A	72158692	C	A	72158692	4	1	210	1	0	0	0	0	0	1	0	0	12206	922	32	2	540	2	PMFBP1	16	72158692	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1143343	72158692	18196061	588	37824											
MLKL	197259	broad.mit.edu	37	chr16	74716632	74716632	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccctatccaacagctccctCagggtcccgagttcacagta	9	9	7	16	1	2	0	2	0	0	0	6	1	6	0	4	1	2	3	4	1	3	3	rs150099936		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:74716632C>G	ENST00000308807.7	-	6	1336	c.873G>C	c.(871-873)ctG>ctC	p.L291L	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	291	Protein kinase.		L -> P (in a gastric adenocarcinoma sample; somatic mutation).				ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						ACAGCTCCCTCAGGGTCCCGA	0.557													3	53					0	0	0	0	G	74716632	C	G	74716632	2	3	210	1	0	0	0	0	0	0	0	1	9688	813	29	2		2	MLKL	16	74716632	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2557940	74716632	15638121	589	37825											
TMEM170A	124491	broad.mit.edu	37	chr16	75481557	75481557	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtatcatttccttccctgCtgctcggtaaactccagcaa	8	13	7	13	1	1	0	1	0	0	0	5	0	4	0	3	2	4	5	3	2	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:75481557C>A	ENST00000357613.4	-	3	353	c.265G>T	c.(265-267)Gca>Tca	p.A89S	TMEM170A_ENST00000569540.1_Missense_Mutation_p.A74S|TMEM170A_ENST00000567796.1_Missense_Mutation_p.A67S|RP11-77K12.1_ENST00000567194.1_Intron|TMEM170A_ENST00000566980.1_Missense_Mutation_p.A44S|TMEM170A_ENST00000561878.1_Missense_Mutation_p.A112S|RP11-77K12.1_ENST00000561887.1_Intron			Q8WVE7	T170A_HUMAN	transmembrane protein 170A	112						integral to membrane				endometrium(1)	1						TCCTTCCCTGCTGCTCGGTAA	0.398													14	73					7.93312e-07	1.65368e-06	1	0	A	75481557	C	A	75481557	3	1	210	1	0	0	0	0	1	0	0	0	16180	797	28	4	104	4	TMEM170A	16	75481557	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	764925	75481557	14873196	590	37826											
PITPNA	5306	broad.mit.edu	37	chr17	1437393	1437393	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccccagagcccccacttacTtcatccagctgtctcttcgt	6	11	5	19	1	2	1	1	0	1	1	5	1	3	1	5	0	3	1	5	0	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:1437393T>C	ENST00000313486.7	-	10	1023	c.768_splice	c.e10+1	p.E256_splice	PITPNA_ENST00000539476.1_Splice_Site_p.E256_splice	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	256					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		CCCCACTTACTTCATCCAGCT	0.502													4	295					0	0	0	0	C	1437393	T	C	1437393	5	2	210	1	0	0	0	0	0	0	1	0	12019	1623	56	5	52	5	PITPNA	17	1437393	Splice_Site	SNP	T	TCGA-CR-7388-01A-11D-2012-08		1437393	79757817	591	37827											
CTNS	1497	broad.mit.edu	37	chr17	3561357	3561357	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgctcgcgtggctctTcgcatttgtcaccatgatcg	4	13	11	13	4	2	1	1	1	1	0	5	1	2	1	2	2	1	3	2	2	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:3561357T>C	ENST00000046640.3	+	10	1333	c.740T>C	c.(739-741)tTc>tCc	p.F247S	RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000381870.3_Missense_Mutation_p.F247S|CTNS_ENST00000414524.2_Missense_Mutation_p.F100S|CTNS_ENST00000441220.2_Missense_Mutation_p.F139S	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	247					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	GCGTGGCTCTTCGCATTTGTC	0.622													38	81					0	0	0	0	C	3561357	T	C	3561357	3	2	210	1	0	0	0	0	1	0	0	0	4053	1783	62	5	770	5	CTNS	17	3561357	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	2123964	3561357	77633853	592	37828											
SPNS3	201305	broad.mit.edu	37	chr17	4389751	4389751	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctgactcctatctgcaGcgcttccgcagcctgcagca	6	8	9	18	3	1	1	0	1	1	0	3	1	3	1	4	0	5	5	4	0	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:4389751G>T	ENST00000355530.2	+	11	1603	c.1323G>T	c.(1321-1323)caG>caT	p.Q441H	SPNS3_ENST00000333476.2_Missense_Mutation_p.Q314H	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	441					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCTATCTGCAGCGCTTCCGCA	0.662													8	45					2.62144e-13	6.14477e-13	1	0	T	4389751	G	T	4389751	3	4	210	1	0	0	0	0	1	0	0	0	15166	962	34	4	1365	4	SPNS3	17	4389751	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	828394	4389751	76805459	593	37829											
DVL2	1856	broad.mit.edu	37	chr17	7131012	7131012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagatgtaatggtgctcatgGaggaggaacctggataggct	11	9	15	6	0	1	1	1	0	0	1	1	5	1	5	1	6	2	3	1	6	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:7131012G>A	ENST00000005340.5	-	11	1475	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	DVL2_ENST00000575458.1_Missense_Mutation_p.S392F	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	398					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GGTGCTCATGGAGGAGGAACC	0.597													5	17					0	0	0	0	A	7131012	G	A	7131012	3	1	210	1	0	0	0	0	1	0	0	0	4872	1174	41	2	1037	2	DVL2	17	7131012	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2741261	7131012	74064198	594	37830											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	18					0	0	0	0	A	7577121	G	A	7577121	3	1	210	1	0	0	0	0	1	0	0	0	16476	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	446109	7577121	73618089	595	37831											
WDR16	146845	broad.mit.edu	37	chr17	9536276	9536276	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtatgtcattaacaatgctCacaggatcggcgtcaccgcc	10	10	9	12	3	3	0	3	0	0	0	4	1	3	1	2	2	2	2	2	2	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:9536276C>G	ENST00000352665.5	+	10	1315	c.1246C>G	c.(1246-1248)Cac>Gac	p.H416D	WDR16_ENST00000396219.3_Missense_Mutation_p.H348D|WDR16_ENST00000299764.5_Missense_Mutation_p.H426D	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	416						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TAACAATGCTCACAGGATCGG	0.517													9	54					0	0	0	0	G	9536276	C	G	9536276	3	3	210	1	0	0	0	0	1	0	0	0	17372	826	29	2	1284	2	WDR16	17	9536276	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1959155	9536276	71658934	596	37832											
MYH1	4619	broad.mit.edu	37	chr17	10406202	10406202	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcaatggtttcatccagAcccgccatctcttctgtgag	8	13	8	12	1	3	2	1	1	2	1	5	2	4	2	3	1	1	2	3	1	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:10406202A>G	ENST00000226207.5	-	24	3058	c.2964T>C	c.(2962-2964)ggT>ggC	p.G988G	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	988						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTCATCCAGACCCGCCATCT	0.507													30	148					0	0	0	0	G	10406202	A	G	10406202	2	3	210	1	0	0	0	0	0	0	0	1	10099	262	10	5		5	MYH1	17	10406202	Silent	SNP	A	TCGA-CR-7388-01A-11D-2012-08	869926	10406202	70789008	597	37833											
MYOCD	93649	broad.mit.edu	37	chr17	12666489	12666489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgtcctcaccaagccctCggcttcctttgaacaagcct	7	11	7	16	1	1	1	1	1	0	0	4	1	3	1	5	1	4	2	5	1	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:12666489C>T	ENST00000425538.1	+	14	2689	c.2489C>T	c.(2488-2490)tCg>tTg	p.S830L	MYOCD_ENST00000343344.4_Missense_Mutation_p.S782L|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	782					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCAAGCCCTCGGCTTCCTTT	0.498													5	89					0	0	0	0	T	12666489	C	T	12666489	3	4	210	1	0	0	0	0	1	0	0	0	10157	893	31	1	2555	1	MYOCD	17	12666489	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2260287	12666489	68528721	598	37834											
MYOCD	93649	broad.mit.edu	37	chr17	12666815	12666815	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatctccctgggaaaccatgGagtggctggacctcactccg	9	8	11	13	1	2	0	1	0	1	0	4	3	3	3	4	4	1	1	4	4	2	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:12666815G>C	ENST00000425538.1	+	14	3015	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	MYOCD_ENST00000343344.4_Missense_Mutation_p.E891Q|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	891					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGAAACCATGGAGTGGCTGGA	0.552													9	40					0	0	0	0	C	12666815	G	C	12666815	3	2	210	1	0	0	0	0	1	0	0	0	10157	1175	41	2	2881	2	MYOCD	17	12666815	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	326	12666815	68528395	599	37835											
KIAA0100	9703	broad.mit.edu	37	chr17	26961727	26961727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtaagcagtgcccggcGcatgggtgtgttgccataga	9	8	14	10	2	0	1	0	0	0	1	0	1	0	1	3	2	3	4	3	2	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:26961727G>A	ENST00000528896.2	-	16	2952	c.2878C>T	c.(2878-2880)Cgc>Tgc	p.R960C	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R817C|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R817C	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	960						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGTGCCCGGCGCATGGGTGTG	0.527													7	109					0	0	0	0	A	26961727	G	A	26961727	3	1	210	1	0	0	0	0	1	0	0	0	8205	1087	38	1	3925	1	KIAA0100	17	26961727	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	14294912	26961727	54233483	600	37836											
TAOK1	57551	broad.mit.edu	37	chr17	27829692	27829692	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagtatctcgtcacaaatCacactatcgtaatcgagaac	15	9	5	12	3	3	1	2	0	1	1	6	2	3	1	1	0	1	2	1	0	6	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:27829692C>G	ENST00000261716.3	+	13	1808	c.1289C>G	c.(1288-1290)tCa>tGa	p.S430*	TAOK1_ENST00000536202.1_Nonsense_Mutation_p.S430*	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	430					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CGTCACAAATCACACTATCGT	0.393													7	41					0	0	0	0	G	27829692	C	G	27829692	4	3	210	1	0	0	0	0	0	1	0	0	15638	838	29	2	1335	2	TAOK1	17	27829692	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	867965	27829692	53365518	601	37837											
LRRC37B	114659	broad.mit.edu	37	chr17	30374901	30374901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctcagacagcagtggcatCaacttgtcaggctttggggg	8	9	13	11	0	3	1	3	0	0	1	3	1	3	1	1	4	2	3	1	4	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:30374901C>G	ENST00000327564.7	+	9	2506	c.2445C>G	c.(2443-2445)atC>atG	p.I815M	LRRC37B_ENST00000543378.2_Missense_Mutation_p.I706M|LRRC37B_ENST00000394713.3_Missense_Mutation_p.I737M|LRRC37B_ENST00000341671.7_Missense_Mutation_p.I788M|LRRC37B_ENST00000584368.1_Missense_Mutation_p.I749M			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	788						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCAGTGGCATCAACTTGTCAG	0.507													25	309					0	0	0	0	G	30374901	C	G	30374901	3	3	210	1	0	0	0	0	1	0	0	0	9058	816	29	2	2398	2	LRRC37B	17	30374901	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2545209	30374901	50820309	602	37838											
SLFN12	55106	broad.mit.edu	37	chr17	33749704	33749704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtggtaatccgcagaccaGaggtgttcaagctccatgac	11	8	12	10	1	1	3	1	1	0	2	3	3	3	3	3	3	1	4	3	3	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:33749704G>C	ENST00000394562.1	-	4	867	c.344C>G	c.(343-345)tCt>tGt	p.S115C	SLFN12_ENST00000304905.5_Missense_Mutation_p.S115C|SLFN12_ENST00000452764.3_Missense_Mutation_p.S115C			Q8IYM2	SLN12_HUMAN	schlafen family member 12	115							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCGCAGACCAGAGGTGTTCAA	0.398													9	54					0	0	0	0	C	33749704	G	C	33749704	3	2	210	1	0	0	0	0	1	0	0	0	14822	942	33	2	1404	2	SLFN12	17	33749704	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3374803	33749704	47445506	603	37839											
MYO19	80179	broad.mit.edu	37	chr17	34871743	34871743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagttcaggatcctctgttCtatcctctctgcaatcttgt	6	16	8	11	0	5	0	1	0	4	0	8	2	7	2	2	2	1	3	2	2	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:34871743C>G	ENST00000431794.3	-	7	1027	c.505G>C	c.(505-507)Gaa>Caa	p.E169Q	MYO19_ENST00000544606.1_Missense_Mutation_p.E35Q|MYO19_ENST00000268852.9_Missense_Mutation_p.E169Q|MYO19_ENST00000586007.1_Missense_Mutation_p.E169Q	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	169	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCCTCTGTTCTATCCTCTCT	0.517													8	37					0	0	0	0	G	34871743	C	G	34871743	3	3	210	1	0	0	0	0	1	0	0	0	10137	922	32	2	2547	2	MYO19	17	34871743	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1122039	34871743	46323467	604	37840											
HNF1B	6928	broad.mit.edu	37	chr17	36093688	36093688	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcttgttggtgggctcaGagcaggcatcatcggactgc	6	12	13	10	1	4	1	2	0	2	1	5	2	4	2	0	4	2	4	0	4	0	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36093688G>C	ENST00000225893.4	-	3	1032	c.671C>G	c.(670-672)tCt>tGt	p.S224C	HNF1B_ENST00000561193.1_Missense_Mutation_p.S198C|HNF1B_ENST00000560016.1_Missense_Mutation_p.S224C|HNF1B_ENST00000427275.2_Missense_Mutation_p.S198C	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	224					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGTGGGCTCAGAGCAGGCATC	0.552													15	56					0	0	0	0	C	36093688	G	C	36093688	3	2	210	1	0	0	0	0	1	0	0	0	7302	942	33	2	1030	2	HNF1B	17	36093688	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1221945	36093688	45101522	605	37841											
GPR179	440435	broad.mit.edu	37	chr17	36484183	36484183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggacaagccacctcccactCtggggttggcttctgtggct	5	10	13	13	0	2	0	0	0	2	0	3	1	3	1	3	5	1	3	3	5	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36484183C>G	ENST00000342292.4	-	11	5289	c.5269G>C	c.(5269-5271)Gag>Cag	p.E1757Q	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1757						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACCTCCCACTCTGGGGTTGGC	0.547													5	50					0	0	0	0	G	36484183	C	G	36484183	3	3	210	1	0	0	0	0	1	0	0	0	6723	922	32	2	1838	2	GPR179	17	36484183	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	390495	36484183	44711027	606	37842			2	59		5	5	1094	C		2.578973e-08
GPR179	440435	broad.mit.edu	37	chr17	36484226	36484226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggagcagtaacagctctCtccctgggtccaagatctgc	8	10	10	13	0	3	1	0	0	3	1	6	2	5	2	2	2	4	3	2	2	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36484226C>G	ENST00000342292.4	-	11	5246	c.5226G>C	c.(5224-5226)gaG>gaC	p.E1742D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1742						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TAACAGCTCTCTCCCTGGGTC	0.577													5	52					0	0	0	0	G	36484226	C	G	36484226	3	3	210	1	0	0	0	0	1	0	0	0	6723	912	32	2	1881	2	GPR179	17	36484226	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	43	36484226	44710984	607	37843			2	59		5	5	1094	C		2.578973e-08
GPR179	440435	broad.mit.edu	37	chr17	36484372	36484372	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagcagtcaagttttcctCcacatccaaagggcaaatgt	12	9	7	13	0	1	0	1	0	0	0	4	0	4	0	4	1	1	3	4	1	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36484372C>A	ENST00000342292.4	-	11	5100	c.5080G>T	c.(5080-5082)Gag>Tag	p.E1694*	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1694						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AAGTTTTCCTCCACATCCAAA	0.557													7	110					0.00307968	0.00578596	1	0	A	36484372	C	A	36484372	4	1	210	1	0	0	0	0	0	1	0	0	6723	864	30	2	2027	2	GPR179	17	36484372	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	146	36484372	44710838	608	37844			2	59		5	5	1094	C		2.578973e-08
GPR179	440435	broad.mit.edu	37	chr17	36484653	36484653	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtccattcctctcttgttCtttcatttacctcccaggga	6	17	5	13	0	3	0	1	0	2	0	7	1	6	1	4	1	1	1	4	1	1	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36484653C>G	ENST00000342292.4	-	11	4819	c.4799G>C	c.(4798-4800)aGa>aCa	p.R1600T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1600						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCTCTTGTTCTTTCATTTAC	0.493													10	183					0	0	0	0	G	36484653	C	G	36484653	3	3	210	1	0	0	0	0	1	0	0	0	6723	913	32	2	2308	2	GPR179	17	36484653	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	281	36484653	44710557	609	37845			2	59		5	5	1094	C		2.578973e-08
GPR179	440435	broad.mit.edu	37	chr17	36485276	36485276	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgcctcttgggctggtttCccatcctcgcctccttcact	3	14	7	17	1	2	0	1	0	1	0	6	0	5	0	5	2	1	2	5	2	0	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36485276C>A	ENST00000342292.4	-	11	4196	c.4176G>T	c.(4174-4176)ggG>ggT	p.G1392G		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1392						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGCTGGTTTCCCATCCTCGC	0.557													8	132					1.12685e-05	2.26795e-05	1	0	A	36485276	C	A	36485276	2	1	210	1	0	0	0	0	0	0	0	1	6723	842	30	2		2	GPR179	17	36485276	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	623	36485276	44709934	610	37846			2	59		5	5	1094	C		2.578973e-08
KCNH4	23415	broad.mit.edu	37	chr17	40315263	40315263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacctgtagggggcgcctggGagcggggccttggcagttca	5	8	18	10	2	1	0	1	0	0	0	1	1	1	1	3	6	2	3	3	6	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:40315263G>A	ENST00000264661.3	-	14	2899	c.2567C>T	c.(2566-2568)tCc>tTc	p.S856F	KCNH4_ENST00000607371.1_Missense_Mutation_p.S856F	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	856					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGCGCCTGGGAGCGGGGCCT	0.597													11	46					0	0	0	0	A	40315263	G	A	40315263	3	1	210	1	0	0	0	0	1	0	0	0	8087	1174	41	2	498	2	KCNH4	17	40315263	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3829987	40315263	40879947	611	37847											
EZH1	2145	broad.mit.edu	37	chr17	40865279	40865279	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccctgtcactgtctccttcTttagtctcagccacagcaga	7	13	6	15	0	4	1	2	0	3	1	7	1	5	1	3	0	2	1	3	0	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:40865279T>C	ENST00000428826.2	-	11	1273	c.1152A>G	c.(1150-1152)aaA>aaG	p.K384K	EZH1_ENST00000435174.1_Silent_p.K245K|EZH1_ENST00000590078.1_Silent_p.K314K|EZH1_ENST00000415827.2_Silent_p.K375K|EZH1_ENST00000585893.1_Silent_p.K344K|EZH1_ENST00000592743.1_Silent_p.K384K			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	384					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGTCTCCTTCTTTAGTCTCAG	0.527													27	56					0	0	0	0	C	40865279	T	C	40865279	2	2	210	1	0	0	0	0	0	0	0	1	5371	1606	56	5		5	EZH1	17	40865279	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	550016	40865279	40329931	612	37848											
RPRML	388394	broad.mit.edu	37	chr17	45056164	45056164	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcacgcagagcacggcGatctgcgccacccgcgacac	10	2	12	17	6	1	1	0	0	1	1	1	4	1	1	2	1	3	3	2	1	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:45056164G>T	ENST00000322329.3	-	1	450	c.210C>A	c.(208-210)atC>atA	p.I70I	RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000439730.2_Intron|LRRC37A17P_ENST00000570478.1_RNA	NM_203400.4	NP_981945.1	Q8N4K4	RPRML_HUMAN	reprimo-like	70						integral to membrane				lung(1)	1						AGAGCACGGCGATCTGCGCCA	0.687													30	33					1.57351e-24	3.89706e-24	1	0	T	45056164	G	T	45056164	2	4	210	1	0	0	0	0	0	0	0	1	13704	1048	37	3		3	RPRML	17	45056164	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	4190885	45056164	36139046	613	37849											
SPOP	8405	broad.mit.edu	37	chr17	47699430	47699430	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaatttcactaccttgatCtgttgatagaaaaacaggaa	16	11	8	6	0	2	4	1	2	1	2	2	6	2	5	1	1	2	1	1	1	6	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:47699430C>G	ENST00000393331.3	-	5	549		c.e5-1		SPOP_ENST00000504102.1_Splice_Site|SPOP_ENST00000503676.1_Splice_Site|SPOP_ENST00000513080.1_Splice_Site|SPOP_ENST00000347630.2_Splice_Site|SPOP_ENST00000393328.2_Splice_Site	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein						mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTACCTTGATCTGTTGATAGA	0.398										Prostate(2;0.17)			13	19					0	0	0	0	G	47699430	C	G	47699430	5	3	210	1	0	0	0	0	0	0	1	0	15174	927	32	2	1078	2	SPOP	17	47699430	Splice_Site	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2643266	47699430	33495780	614	37850											
TUBD1	51174	broad.mit.edu	37	chr17	57955478	57955478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatacctagtggatttcgtCtgtagtgaaatgagctttct	11	15	9	6	1	2	2	0	2	2	0	3	3	2	3	1	1	2	2	1	1	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:57955478C>T	ENST00000325752.3	-	5	1032	c.755G>A	c.(754-756)aGa>aAa	p.R252K	TUBD1_ENST00000592426.1_Missense_Mutation_p.R252K|TUBD1_ENST00000376094.4_Missense_Mutation_p.R252K|TUBD1_ENST00000394239.3_Missense_Mutation_p.R252K|TUBD1_ENST00000539018.1_Missense_Mutation_p.R36K|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.R252K	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	252					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TGGATTTCGTCTGTAGTGAAA	0.408													6	27					0	0	0	0	T	57955478	C	T	57955478	3	4	210	1	0	0	0	0	1	0	0	0	16858	913	32	2	626	2	TUBD1	17	57955478	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	10256048	57955478	23239732	615	37851											
CASKIN2	57513	broad.mit.edu	37	chr17	73498346	73498346	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgagatgggggcgtcccctCagggcctggctcctcctcct	3	8	13	17	2	1	1	1	0	0	1	5	2	5	1	7	4	0	1	7	4	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:73498346C>G	ENST00000321617.3	-	18	3395	c.2809G>C	c.(2809-2811)Gag>Cag	p.E937Q	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E855Q	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	937	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCGTCCCCTCAGGGCCTGGC	0.701													6	18					0	0	0	0	G	73498346	C	G	73498346	3	3	210	1	0	0	0	0	1	0	0	0	2692	835	29	2	811	2	CASKIN2	17	73498346	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	15542868	73498346	7696864	616	37852											
NARF	26502	broad.mit.edu	37	chr17	80439061	80439061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctttgcatggctcccGgggcgctgactgcgtgttaa	4	11	13	13	3	0	1	0	1	0	0	1	1	1	1	2	3	3	5	2	3	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:80439061G>A	ENST00000390006.4	+	7	1040	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	NARF_ENST00000457415.3_Missense_Mutation_p.R294Q|NARF_ENST00000412079.2_Missense_Mutation_p.R120Q|NARF_ENST00000345415.7_Missense_Mutation_p.R200Q|NARF_ENST00000309794.10_Missense_Mutation_p.R248Q	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	248						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CATGGCTCCCGGGGCGCTGAC	0.587													19	87					0	0	0	0	A	80439061	G	A	80439061	3	1	210	1	0	0	0	0	1	0	0	0	10237	1116	39	1	769	1	NARF	17	80439061	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	6940715	80439061	756149	617	37853											
DLGAP1	9229	broad.mit.edu	37	chr18	3880032	3880032	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgagtcgcaggtgacccCgtggtgatggctgcggctgc	4	7	18	12	4	0	2	0	2	0	0	1	3	0	2	3	5	2	3	3	5	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:3880032C>G	ENST00000315677.3	-	4	632	c.37G>C	c.(37-39)Ggg>Cgg	p.G13R	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.G13R|DLGAP1_ENST00000584874.1_Missense_Mutation_p.G13R|DLGAP1_ENST00000581527.1_Missense_Mutation_p.G13R	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	13					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CAGGTGACCCCGTGGTGATGG	0.662													11	25					0	0	0	0	G	3880032	C	G	3880032	3	3	210	1	0	0	0	0	1	0	0	0	4596	652	23	3	2991	3	DLGAP1	18	3880032	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08		3880032	74197216	618	37854											
EPB41L3	23136	broad.mit.edu	37	chr18	5397176	5397176	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggacagctttagcgacctCctcccctccttcctctttag	6	12	6	17	1	1	0	0	0	1	0	5	2	5	1	6	1	2	1	6	1	2	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:5397176C>A	ENST00000341928.2	-	18	3062	c.2722G>T	c.(2722-2724)Gag>Tag	p.E908*	EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E908*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E739*|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E686*|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.E213*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E686*|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.E205*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	908	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTAGCGACCTCCTCCCCTCCT	0.577													24	124					6.44725e-10	1.43628e-09	1	0	A	5397176	C	A	5397176	4	1	210	1	0	0	0	0	0	1	0	0	5192	864	30	2	561	2	EPB41L3	18	5397176	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1517144	5397176	72680072	619	37855											
PTPRM	5797	broad.mit.edu	37	chr18	7955122	7955122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtttgtctttcagaacCacccgttcctattgccccac	6	14	6	15	1	3	1	1	0	2	1	4	1	4	1	5	1	2	2	5	1	2	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:7955122C>A	ENST00000332175.8	+	7	1879	c.842C>A	c.(841-843)cCa>cAa	p.P281Q	PTPRM_ENST00000580170.1_Missense_Mutation_p.P281Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.P219Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.P68Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.P281Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	281	Fibronectin type-III 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTTTCAGAACCACCCGTTCCT	0.448													10	56					3.86212e-05	7.69348e-05	1	0	A	7955122	C	A	7955122	3	1	210	1	0	0	0	0	1	0	0	0	12888	594	21	4	868	4	PTPRM	18	7955122	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2557946	7955122	70122126	620	37856											
ANKRD12	23253	broad.mit.edu	37	chr18	9258619	9258619	+	Frame_Shift_Del	DEL	G	G	-																															tcctcaaattcaccatccacGgaaaaggaaagtgtcacgtg																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:9258619delG	ENST00000383440.2	+	8	5542	c.5285delG	c.(5284-5286)cgfs	p.R1762fs	ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.R1762fs|ANKRD12_ENST00000262126.3_Frame_Shift_Del_p.R1785fs	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1785						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CACCATCCACGGAAAAGGAAA	0.423													12	57	---	---	---	---					-	9258619	G	-	9258619	7	5	210	1	0	1	0	1	0	0	0	0	640	1116	39	0	5384	0	ANKRD12	18	9258619	Frame_Shift_Del	DEL	G	TCGA-CR-7388-01A-11D-2012-08	1303497	9258619	68818629	621	37857											
MC2R	4158	broad.mit.edu	37	chr18	13884801	13884801	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcagaatgtcatcaagagGacatgaagcacaaagggggc	15	4	15	7	0	2	3	2	1	0	2	2	4	2	4	0	4	1	2	0	4	4	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:13884801G>T	ENST00000327606.3	-	2	897	c.717C>A	c.(715-717)gtC>gtA	p.V239V		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	239					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TCATCAAGAGGACATGAAGCA	0.542													7	49					8.12818e-05	0.000160275	1	0	T	13884801	G	T	13884801	2	4	210	1	0	0	0	0	0	0	0	1	9433	1161	41	2		2	MC2R	18	13884801	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	4626182	13884801	64192447	622	37858											
ASXL3	80816	broad.mit.edu	37	chr18	31323161	31323161	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttgcaaagcatcaagctCgagcccatctcttccagacc	10	10	6	15	1	3	1	1	0	2	1	6	2	4	1	3	0	4	3	3	0	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:31323161C>T	ENST00000269197.5	+	12	3349	c.3349C>T	c.(3349-3351)Cga>Tga	p.R1117*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCATCAAGCTCGAGCCCATCT	0.527													7	36					0	0	0	0	T	31323161	C	T	31323161	4	4	210	1	0	0	0	0	0	1	0	0	1072	876	31	1	3395	1	ASXL3	18	31323161	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	17438360	31323161	46754087	623	37859											
ASXL3	80816	broad.mit.edu	37	chr18	31326042	31326042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtccacgggcatatgtaGcaatataaaatcggaacctc	15	8	8	10	2	0	0	0	0	0	0	3	1	1	1	2	2	2	3	2	2	7	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:31326042G>T	ENST00000269197.5	+	12	6230	c.6230G>T	c.(6229-6231)aGc>aTc	p.S2077I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2077					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGCATATGTAGCAATATAAAA	0.428													13	77					2.32078e-09	5.118e-09	1	0	T	31326042	G	T	31326042	3	4	210	1	0	0	0	0	1	0	0	0	1072	971	34	4	6276	4	ASXL3	18	31326042	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2881	31326042	46751206	624	37860											
FHOD3	80206	broad.mit.edu	37	chr18	34261476	34261476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagagagagagaggcggcGgcaggagagagaagaaaggt	16	1	20	4	2	0	6	0	0	0	6	0	10	0	6	0	5	1	2	0	5	2	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:34261476G>T	ENST00000257209.4	+	12	1510	c.1388G>T	c.(1387-1389)cGg>cTg	p.R463L	FHOD3_ENST00000590592.1_Missense_Mutation_p.R638L|FHOD3_ENST00000359247.4_Missense_Mutation_p.R463L|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Missense_Mutation_p.R425L	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	463					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAGAGGCGGCGGCAGGAGAGA	0.433													11	54					0.000673444	0.0012944	1	0	T	34261476	G	T	34261476	3	4	210	1	0	0	0	0	1	0	0	0	5928	1116	39	3	1434	3	FHOD3	18	34261476	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2935434	34261476	43815772	625	37861											
NEDD4L	23327	broad.mit.edu	37	chr18	56034991	56034991	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaagggacaactacaccCttcagatcaaccctaattca	16	8	4	13	0	4	1	4	0	0	1	4	2	4	2	2	1	3	0	2	1	6	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:56034991C>G	ENST00000456986.1	+	22	2314	c.1714C>G	c.(1714-1716)Ctt>Gtt	p.L572V	NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L629V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.L673V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.L572V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.L552V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.L553V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.L589V|NEDD4L_ENST00000400345.3_Missense_Mutation_p.L693V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.L685V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L665V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.L552V	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	693	WW 4.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CAACTACACCCTTCAGATCAA	0.413													9	43					0	0	0	0	G	56034991	C	G	56034991	3	3	210	1	0	0	0	0	1	0	0	0	10381	681	24	4	2191	4	NEDD4L	18	56034991	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	21773515	56034991	22042257	626	37862											
ALPK2	115701	broad.mit.edu	37	chr18	56202141	56202141	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgataatgatgtttcgagttTgggcatctttttaagaaagg	11	16	11	3	1	1	3	0	2	1	1	2	4	1	3	0	2	0	3	0	2	3	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:56202141T>A	ENST00000361673.3	-	5	5491	c.5278A>T	c.(5278-5280)Aaa>Taa	p.K1760*		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1760							ATP binding|protein serine/threonine kinase activity			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						GTTTCGAGTTTGGGCATCTTT	0.403													17	118					0	0	0	0	A	56202141	T	A	56202141	4	1	210	1	0	0	0	0	0	1	0	0	545	1821	63	5	1270	5	ALPK2	18	56202141	Nonsense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	167150	56202141	21875107	627	37863											
CDH19	28513	broad.mit.edu	37	chr18	64172405	64172405	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcctcagctctgctatatCaaaggcctctgtatcttctt	8	15	5	13	0	6	0	2	0	4	0	7	0	7	0	2	1	2	3	2	1	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:64172405C>G	ENST00000262150.2	-	12	2255	c.1963G>C	c.(1963-1965)Gat>Cat	p.D655H	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	655					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCTGCTATATCAAAGGCCTCT	0.433													43	167					0	0	0	0	G	64172405	C	G	64172405	3	3	210	1	0	0	0	0	1	0	0	0	3133	826	29	2	359	2	CDH19	18	64172405	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	7970264	64172405	13904843	628	37864											
LMNB2	84823	broad.mit.edu	37	chr19	2435054	2435054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccgcacttgctcgtcgTgctggctccgcagctcctcc	4	9	11	17	4	0	1	0	0	0	1	5	1	3	1	4	1	4	6	4	1	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:2435054T>C	ENST00000325327.3	-	5	862	c.800A>G	c.(799-801)cAc>cGc	p.H267R	LMNB2_ENST00000582871.1_Missense_Mutation_p.H247R			Q03252	LMNB2_HUMAN	lamin B2	247	Coil 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		TTGCTCGTCGTGCTGGCTCCG	0.711													10	45					0	0	0	0	C	2435054	T	C	2435054	3	2	210	1	0	0	0	0	1	0	0	0	8905	1696	59	5	1094	5	LMNB2	19	2435054	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08		2435054	56693929	629	37865											
TLE6	79816	broad.mit.edu	37	chr19	2987363	2987363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtgacagagcaggcacCaggcctggtgagtaaacaac	13	5	13	10	0	0	3	0	2	0	1	0	3	0	3	2	4	3	3	2	4	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:2987363C>T	ENST00000246112.4	+	8	752	c.551C>T	c.(550-552)cCa>cTa	p.P184L	TLE6_ENST00000452088.1_Missense_Mutation_p.P61L|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	61					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		GAGCAGGCACCAGGCCTGGTG	0.637													5	74					0	0	0	0	T	2987363	C	T	2987363	3	4	210	1	0	0	0	0	1	0	0	0	16036	594	21	4	577	4	TLE6	19	2987363	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	552309	2987363	56141620	630	37866											
LRG1	116844	broad.mit.edu	37	chr19	4538167	4538167	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tagggatgcccagagcccctCgggcacgctggccagtgagt	7	6	15	13	2	0	2	0	1	0	1	1	3	0	3	4	3	2	2	4	3	1	1	rs112633064		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:4538167C>G	ENST00000306390.6	-	2	1289	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	277						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGAGCCCCTCGGGCACGCTG	0.642													11	104					0	0	0	0	G	4538167	C	G	4538167	3	3	210	1	0	0	0	0	1	0	0	0	9006	893	31	3	218	3	LRG1	19	4538167	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1550804	4538167	54590816	631	37867											
CRB3	92359	broad.mit.edu	37	chr19	6465616	6465616	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcatccaccagctccagctCcgatggcaacctggtgagtt	8	10	9	14	1	1	1	1	1	0	0	4	2	4	1	5	2	3	4	5	2	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:6465616C>G	ENST00000598494.1	+	3	674	c.143C>G	c.(142-144)tCc>tGc	p.S48C	CRB3_ENST00000600229.1_Missense_Mutation_p.S48C|CRB3_ENST00000356762.3_Missense_Mutation_p.S48C|CRB3_ENST00000308243.7_Missense_Mutation_p.S48C			Q9BUF7	CRUM3_HUMAN	crumbs homolog 3 (Drosophila)	48					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding			endometrium(1)|large_intestine(1)|lung(1)	3						AGCTCCAGCTCCGATGGCAAC	0.493													48	199					0	0	0	0	G	6465616	C	G	6465616	3	3	210	1	0	0	0	0	1	0	0	0	3880	855	30	2	149	2	CRB3	19	6465616	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1927449	6465616	52663367	632	37868											
MCOLN1	57192	broad.mit.edu	37	chr19	7594574	7594574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tactgcttctgtggctggatCgtgctggggccctatcatgt	4	14	13	10	1	2	0	1	0	1	0	3	1	2	1	1	4	3	3	1	4	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:7594574C>G	ENST00000264079.6	+	11	1460	c.1335C>G	c.(1333-1335)atC>atG	p.I445M		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	445					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGGCTGGATCGTGCTGGGGC	0.582													20	99					0	0	0	0	G	7594574	C	G	7594574	3	3	210	1	0	0	0	0	1	0	0	0	9464	874	31	3	1377	3	MCOLN1	19	7594574	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1128958	7594574	51534409	633	37869											
STXBP2	6813	broad.mit.edu	37	chr19	7705802	7705802	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctgccccgagcccctGttcagtgagctaggccgctc	5	7	11	18	2	1	1	1	1	0	0	2	2	1	1	7	1	4	3	7	1	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:7705802G>C	ENST00000441779.2	+	6	412	c.375G>C	c.(373-375)ctG>ctC	p.L125L	STXBP2_ENST00000414284.2_Silent_p.L111L|CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000221283.5_Silent_p.L114L	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	114					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCGAGCCCCTGTTCAGTGAGC	0.657													6	81					0	0	0	0	C	7705802	G	C	7705802	2	2	210	1	0	0	0	0	0	0	0	1	15443	1364	48	4		4	STXBP2	19	7705802	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	111228	7705802	51423181	634	37870											
CD209	30835	broad.mit.edu	37	chr19	7810693	7810693	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcacccactgcagccttCagccaggtcagctcctggta	8	8	9	16	0	3	0	3	0	0	0	4	0	4	0	4	2	5	4	4	2	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:7810693C>T	ENST00000315599.7	-	4	481	c.459G>A	c.(457-459)ctG>ctA	p.L153L	CD209_ENST00000301357.8_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Silent_p.L109L|CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Silent_p.L129L|CD209_ENST00000204801.8_Silent_p.L109L|CD209_ENST00000602261.1_Silent_p.L153L|CD209_ENST00000315591.8_Silent_p.L129L|CD209_ENST00000601256.1_Silent_p.L129L|CD209_ENST00000354397.6_Silent_p.L153L|CD209_ENST00000601951.1_Silent_p.L129L	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	153	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGCAGCCTTCAGCCAGGTCA	0.552													17	196					0	0	0	0	T	7810693	C	T	7810693	2	4	210	1	0	0	0	0	0	0	0	1	3013	813	29	2		2	CD209	19	7810693	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	104891	7810693	51318290	635	37871											
HNRNPM	4670	broad.mit.edu	37	chr19	8531162	8531162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaactgaaggaagtatttaGtatggctggtgtggtggtcc	10	12	15	4	0	0	1	0	1	0	0	1	3	1	2	1	5	1	3	1	5	6	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:8531162G>A	ENST00000348943.3	+	8	789	c.557G>A	c.(556-558)aGt>aAt	p.S186N	HNRNPM_ENST00000325495.4_Missense_Mutation_p.S225N	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	225					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAAGTATTTAGTATGGCTGGT	0.403													16	100					0	0	0	0	A	8531162	G	A	8531162	3	1	210	1	0	0	0	0	1	0	0	0	7321	1029	36	4	700	4	HNRNPM	19	8531162	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	720469	8531162	50597821	636	37872											
MUC16	94025	broad.mit.edu	37	chr19	9003692	9003692	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggacagggccagtggcTgtagtaaaaggtgtggaaac	13	6	16	6	0	0	0	0	0	0	0	0	2	0	2	1	5	2	4	1	5	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:9003692T>A	ENST00000397910.4	-	49	40153		c.e49-2			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GGCCAGTGGCTGTAGTAAAAG	0.418													34	140					0	0	0	0	A	9003692	T	A	9003692	5	1	210	1	0	0	0	0	0	0	1	0	10043	1594	55	5	3719	5	MUC16	19	9003692	Splice_Site	SNP	T	TCGA-CR-7388-01A-11D-2012-08	472530	9003692	50125291	637	37873											
MUC16	94025	broad.mit.edu	37	chr19	9048498	9048498	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccactagaactagtgaccaGagaggtcaccactcctggta	12	8	9	12	0	1	3	1	1	0	2	3	4	3	3	4	2	1	1	4	2	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:9048498G>A	ENST00000397910.4	-	5	33336	c.33133C>T	c.(33133-33135)Ctg>Ttg	p.L11045L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11047	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						CTAGTGACCAGAGAGGTCACC	0.493													18	75					0	0	0	0	A	9048498	G	A	9048498	2	1	210	1	0	0	0	0	0	0	0	1	10043	933	33	2		2	MUC16	19	9048498	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	44806	9048498	50080485	638	37874											
MUC16	94025	broad.mit.edu	37	chr19	9068263	9068263	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttctggagacctcagtagTagcagcagtgaatgctttgt	9	13	12	7	0	2	2	1	1	1	1	2	3	2	2	1	1	3	6	1	1	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:9068263T>A	ENST00000397910.4	-	3	19386	c.19183A>T	c.(19183-19185)Act>Tct	p.T6395S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6397	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						ACCTCAGTAGTAGCAGCAGTG	0.488													11	67					0	0	0	0	A	9068263	T	A	9068263	3	1	210	1	0	0	0	0	1	0	0	0	10043	1638	57	5	24668	5	MUC16	19	9068263	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	19765	9068263	50060720	639	37875											
MUC16	94025	broad.mit.edu	37	chr19	9083129	9083129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatccaaacttgggacctCagaaaactcaaatgtcaagg	16	8	8	9	0	3	1	3	0	0	1	4	2	4	2	2	2	2	1	2	2	6	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:9083129C>T	ENST00000397910.4	-	1	8889	c.8686G>A	c.(8686-8688)Gag>Aag	p.E2896K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2897	Ser-rich.|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						CTTGGGACCTCAGAAAACTCA	0.507													5	25					0	0	0	0	T	9083129	C	T	9083129	3	4	210	1	0	0	0	0	1	0	0	0	10043	835	29	2	35173	2	MUC16	19	9083129	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	14866	9083129	50045854	640	37876											
OR7D2	162998	broad.mit.edu	37	chr19	9297146	9297146	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccataaggaagatgtcctCatctgggggaaaacaaaaag	17	7	10	7	0	2	1	1	0	1	1	4	3	4	3	2	3	1	0	2	3	6	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:9297146C>G	ENST00000344248.2	+	1	868	c.689C>G	c.(688-690)tCa>tGa	p.S230*		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	230					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						AAGATGTCCTCATCTGGGGGA	0.463													8	58					0	0	0	0	G	9297146	C	G	9297146	4	3	210	1	0	0	0	0	0	1	0	0	11290	838	29	2	691	2	OR7D2	19	9297146	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	214017	9297146	49831837	641	37877											
DNM2	1785	broad.mit.edu	37	chr19	10893674	10893674	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgcagccagaaggatattGagggcaagaaggacatccgt	14	5	13	9	2	0	3	0	1	0	2	1	5	1	5	3	3	1	2	3	3	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:10893674G>C	ENST00000314646.5	+	6	891	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	DNM2_ENST00000355667.6_Missense_Mutation_p.E243Q|DNM2_ENST00000389253.4_Missense_Mutation_p.E243Q|DNM2_ENST00000359692.6_Missense_Mutation_p.E243Q|DNM2_ENST00000408974.4_Missense_Mutation_p.E243Q|DNM2_ENST00000585892.1_Missense_Mutation_p.E243Q			P50570	DYN2_HUMAN	dynamin 2	243					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAAGGATATTGAGGGCAAGAA	0.622			"F, N, Splice, Mis, O"		ETP ALL								6	57					0	0	0	0	C	10893674	G	C	10893674	3	2	210	1	0	0	0	0	1	0	0	0	4708	1291	45	2	749	2	DNM2	19	10893674	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1596528	10893674	48235309	642	37878											
ZNF563	147837	broad.mit.edu	37	chr19	12430511	12430511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaatgacccattatgacttCttcacactcagcgctttgac	11	13	5	12	1	3	3	2	3	1	0	3	3	3	3	1	0	1	1	1	0	3	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:12430511C>G	ENST00000293725.5	-	4	533	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q	ZNF563_ENST00000595977.1_Missense_Mutation_p.E110Q	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTATGACTTCTTCACACTCA	0.418													13	145					0	0	0	0	G	12430511	C	G	12430511	3	3	210	1	0	0	0	0	1	0	0	0	18089	922	32	2	1106	2	ZNF563	19	12430511	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1536837	12430511	46698472	643	37879											
ZNF563	147837	broad.mit.edu	37	chr19	12432114	12432114	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcctaggatttttgtactGatcttcagtattctgttctt	6	21	6	8	0	5	1	1	1	4	0	6	2	5	2	1	1	1	3	1	1	3	9			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:12432114G>C	ENST00000293725.5	-	3	368	c.163C>G	c.(163-165)Cag>Gag	p.Q55E	ZNF563_ENST00000595977.1_Missense_Mutation_p.Q55E	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTTTTGTACTGATCTTCAGTA	0.299													3	27					0	0	0	0	C	12432114	G	C	12432114	3	2	210	1	0	0	0	0	1	0	0	0	18089	1299	45	2	1275	2	ZNF563	19	12432114	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1603	12432114	46696869	644	37880											
ZNF443	10224	broad.mit.edu	37	chr19	12542690	12542690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctttcacaaggacctactCcaggaagagtgttcttggtc	9	12	10	10	0	2	1	1	0	1	1	4	3	3	3	2	3	2	2	2	3	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:12542690C>A	ENST00000301547.5	-	4	493	c.296G>T	c.(295-297)gGa>gTa	p.G99V	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	99					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AGGACCTACTCCAGGAAGAGT	0.413													9	51					5.68852e-11	1.28524e-10	1	0	A	12542690	C	A	12542690	3	1	210	1	0	0	0	0	1	0	0	0	18011	855	30	2	1723	2	ZNF443	19	12542690	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	110576	12542690	46586293	645	37881											
RNASEH2A	10535	broad.mit.edu	37	chr19	12924254	12924254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgatatttcctggaacgcGgcctggagtcagcaaccagc	10	7	11	13	3	1	0	1	0	0	0	2	3	2	2	4	3	4	1	4	3	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:12924254G>T	ENST00000221486.4	+	8	968	c.874G>T	c.(874-876)Ggc>Tgc	p.G292C		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	292					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						CCTGGAACGCGGCCTGGAGTC	0.542													7	48					0.00198382	0.00375531	1	0	T	12924254	G	T	12924254	3	4	210	1	0	0	0	0	1	0	0	0	13497	1116	39	3	904	3	RNASEH2A	19	12924254	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	381564	12924254	46204729	646	37882											
LPHN1	22859	broad.mit.edu	37	chr19	14261849	14261850	+	Frame_Shift_Ins	INS	-	-	G																															cgcgaggtgtagtagatttcINSgggggggccggggggtgcgg																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:14261849_14261850insG	ENST00000340736.6	-	24	4557_4558	c.4260_4261insC	c.(4258-4263)ccaaatfs	p.N1421fs	LPHN1_ENST00000361434.3_Frame_Shift_Ins_p.N1416fs|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1421					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAGTAGATTTCGGGGGGGCCGG	0.733													2	4	---	---	---	---					G	14261850	-	G	14261849	7	5	210	1	0	1	1	0	0	0	0	0	8979	893	31	0	167	0	LPHN1	19	14261849	Frame_Shift_Ins	INS	-	TCGA-CR-7388-01A-11D-2012-08	1337595	14261849	44867134	647	37883											
CLEC17A	388512	broad.mit.edu	37	chr19	14710934	14710934	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accaagtcatgggatgaggcCcggatgttctgccaggagaa	11	7	14	9	1	2	2	1	1	1	1	2	5	2	4	3	4	1	1	3	4	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:14710934C>T	ENST00000547437.1	+	12	911	c.834C>T	c.(832-834)gcC>gcT	p.A278A	CLEC17A_ENST00000397439.2_Silent_p.A261A|CLEC17A_ENST00000417570.1_Silent_p.A278A	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	278	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GGGATGAGGCCCGGATGTTCT	0.527													8	51					0	0	0	0	T	14710934	C	T	14710934	2	4	210	1	0	0	0	0	0	0	0	1	3531	610	22	4		4	CLEC17A	19	14710934	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	449085	14710934	44418049	648	37884											
PGLYRP2	114770	broad.mit.edu	37	chr19	15587077	15587077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcaaatttatgaccctgCgcccttgcagccctgcctcc	7	9	9	16	1	0	1	0	1	0	0	1	1	1	1	5	1	4	2	5	1	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:15587077C>T	ENST00000292609.4	-	2	533	c.404G>A	c.(403-405)cGc>cAc	p.R135H	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.R135H			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	135					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TATGACCCTGCGCCCTTGCAG	0.597													13	67					0	0	0	0	T	15587077	C	T	15587077	3	4	210	1	0	0	0	0	1	0	0	0	11866	768	27	1	1342	1	PGLYRP2	19	15587077	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	876143	15587077	43541906	649	37885											
NCAN	1463	broad.mit.edu	37	chr19	19356187	19356187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggcgaggactgtgtggtGatggtggcgcatgaaagcgg	7	8	21	5	3	0	2	0	2	0	0	0	4	0	3	0	7	1	1	0	7	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:19356187G>A	ENST00000252575.5	+	13	3601	c.3558G>A	c.(3556-3558)gtG>gtA	p.V1186V	NCAN_ENST00000538881.1_Silent_p.V637V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1186	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ACTGTGTGGTGATGGTGGCGC	0.577													13	53					0	0	0	0	A	19356187	G	A	19356187	2	1	210	1	0	0	0	0	0	0	0	1	10274	1277	45	2		2	NCAN	19	19356187	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3769110	19356187	39772796	650	37886											
ZNF43	7594	broad.mit.edu	37	chr19	21991840	21991840	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctctccagtatgaattctCttatgtttagtaagagttga	10	18	7	6	0	2	3	0	2	2	1	5	3	3	3	1	0	0	4	1	0	5	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:21991840C>T	ENST00000594012.1	-	7	1495	c.981G>A	c.(979-981)aaG>aaA	p.K327K	ZNF43_ENST00000354959.4_Silent_p.K333K|ZNF43_ENST00000598381.1_Silent_p.K327K|ZNF43_ENST00000595461.1_Silent_p.K327K	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TATGAATTCTCTTATGTTTAG	0.388													11	57					0	0	0	0	T	21991840	C	T	21991840	2	4	210	1	0	0	0	0	0	0	0	1	17998	912	32	2		2	ZNF43	19	21991840	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2635653	21991840	37137143	651	37887											
ZNF208	7757	broad.mit.edu	37	chr19	22155676	22155676	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcttcacatttgtaGggtttctctccagtatgaat	9	16	6	10	0	3	1	1	1	2	0	5	1	4	1	2	1	0	3	2	1	3	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:22155676G>C	ENST00000397126.4	-	4	2308	c.2160C>G	c.(2158-2160)ccC>ccG	p.P720P	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTTGTAGGGTTTCTCTC	0.373													16	77					0	0	0	0	C	22155676	G	C	22155676	2	2	210	1	0	0	0	0	0	0	0	1	17861	987	35	4		4	ZNF208	19	22155676	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	163836	22155676	36973307	652	37888											
ZNF99	7652	broad.mit.edu	37	chr19	22942301	22942301	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttccctgggtagttgtcCaacattggttaagtttatta	8	19	8	6	0	0	0	0	0	0	0	2	0	2	0	2	2	1	4	2	2	5	9			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:22942301C>G	ENST00000397104.3	-	4	472	c.473G>C	c.(472-474)tGg>tCg	p.W158S	ZNF99_ENST00000596209.1_Missense_Mutation_p.W137S					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTAGTTGTCCAACATTGGTT	0.303													7	59					0	0	0	0	G	22942301	C	G	22942301	3	3	210	1	0	0	0	0	1	0	0	0	18297	595	21	4	2655	4	ZNF99	19	22942301	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	786625	22942301	36186682	653	37889											
ZNF536	9745	broad.mit.edu	37	chr19	30936467	30936467	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggatgggctgcacgtGggcctggatgagcggcgtgg	6	6	22	7	3	0	1	0	1	0	0	0	5	0	4	1	7	2	2	1	7	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:30936467G>T	ENST00000355537.3	+	2	2145	c.1998G>T	c.(1996-1998)gtG>gtT	p.V666V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	666					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCTGCACGTGGGCCTGGATG	0.701													13	43					0.00136819	0.0026097	1	0	T	30936467	G	T	30936467	2	4	210	1	0	0	0	0	0	0	0	1	18069	1335	47	4		4	ZNF536	19	30936467	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	7994166	30936467	28192516	654	37890											
SBSN	374897	broad.mit.edu	37	chr19	36018830	36018830	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtccagcagcgttgttgacCccatggccaagcttctctgc	6	11	10	14	1	1	1	0	1	1	0	3	1	2	1	4	1	4	4	4	1	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:36018830C>T	ENST00000452271.2	-	1	382	c.354G>A	c.(352-354)ggG>ggA	p.G118G	SBSN_ENST00000518157.1_Silent_p.G118G	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	118	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGTTGTTGACCCCATGGCCAA	0.572													10	154					0	0	0	0	T	36018830	C	T	36018830	2	4	210	1	0	0	0	0	0	0	0	1	13950	610	22	4		4	SBSN	19	36018830	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	5082363	36018830	23110153	655	37891											
ZNF585A	199704	broad.mit.edu	37	chr19	37643946	37643946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattcttcggtgtgcaatCaaatgggtcttctggatgaa	10	14	11	6	1	4	2	1	2	3	0	5	3	4	3	0	3	1	1	0	3	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:37643946C>A	ENST00000356958.4	-	5	1113	c.855G>T	c.(853-855)ttG>ttT	p.L285F	ZNF585A_ENST00000292841.5_Missense_Mutation_p.L230F|ZNF585A_ENST00000392157.2_Missense_Mutation_p.L230F|ZNF585A_ENST00000355533.2_Missense_Mutation_p.L230F|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTGTGCAATCAAATGGGTCT	0.433													45	175					2.13384e-23	5.25507e-23	1	0	A	37643946	C	A	37643946	3	1	210	1	0	0	0	0	1	0	0	0	18112	825	29	2	1458	2	ZNF585A	19	37643946	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1625116	37643946	21485037	656	37892											
SIPA1L3	23094	broad.mit.edu	37	chr19	38682885	38682885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaactacaaatccaccatcGaggatgacctgaagaaactc	17	6	7	11	1	0	4	0	2	0	2	3	6	1	5	3	1	3	0	3	1	5	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:38682885G>A	ENST00000222345.6	+	17	5040	c.4531G>A	c.(4531-4533)Gag>Aag	p.E1511K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1511					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATCCACCATCGAGGATGACCT	0.582													16	41					0	0	0	0	A	38682885	G	A	38682885	3	1	210	1	0	0	0	0	1	0	0	0	14419	1059	37	1	4589	1	SIPA1L3	19	38682885	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1038939	38682885	20446098	657	37893											
SIPA1L3	23094	broad.mit.edu	37	chr19	38692545	38692545	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctgaacgacccggccctGagcccggacatcccgcctgc	6	6	10	19	4	1	2	0	2	1	0	3	4	2	3	5	2	3	0	5	2	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:38692545G>C	ENST00000222345.6	+	20	5537	c.5028G>C	c.(5026-5028)ctG>ctC	p.L1676L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1676					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCCGGCCCTGAGCCCGGACA	0.657													4	53					0	0	0	0	C	38692545	G	C	38692545	2	2	210	1	0	0	0	0	0	0	0	1	14419	1277	45	2		2	SIPA1L3	19	38692545	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	9660	38692545	20436438	658	37894											
RASGRP4	115727	broad.mit.edu	37	chr19	38903644	38903644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtcgctcaaagtcctcctGagagattgttcctcggcctt	7	12	10	12	2	1	2	1	1	0	1	6	4	4	2	4	1	0	2	4	1	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:38903644G>C	ENST00000454404.2	-	12	1573	c.1360C>G	c.(1360-1362)Cag>Gag	p.Q454E	RASGRP4_ENST00000293062.9_Missense_Mutation_p.Q391E|RASGRP4_ENST00000426920.2_Missense_Mutation_p.Q299E|RASGRP4_ENST00000587753.1_Missense_Mutation_p.Q419E|RASGRP4_ENST00000587738.1_Missense_Mutation_p.Q488E|RASGRP4_ENST00000586305.1_Missense_Mutation_p.Q474E|RASGRP4_ENST00000433821.2_Missense_Mutation_p.Q396E	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	488					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAGTCCTCCTGAGAGATTGTT	0.542													16	75					0	0	0	0	C	38903644	G	C	38903644	3	2	210	1	0	0	0	0	1	0	0	0	13159	1299	45	2	583	2	RASGRP4	19	38903644	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	211099	38903644	20225339	659	37895											
PAF1	54623	broad.mit.edu	37	chr19	39879272	39879272	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacgtctcttctacaggcAggaaataggccacaaactgg	13	8	9	11	1	3	0	1	0	2	0	4	1	3	1	1	4	3	1	1	4	5	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:39879272A>T	ENST00000221265.3	-	10	1115	c.785T>A	c.(784-786)cTg>cAg	p.L262Q	PAF1_ENST00000595564.1_Missense_Mutation_p.L252Q|PAF1_ENST00000221266.7_Missense_Mutation_p.L229Q	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	262					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TTCTACAGGCAGGAAATAGGC	0.527													20	73					0	0	0	0	T	39879272	A	T	39879272	3	4	210	1	0	0	0	0	1	0	0	0	11454	188	7	5	830	5	PAF1	19	39879272	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	975628	39879272	19249711	660	37896											
FCGBP	8857	broad.mit.edu	37	chr19	40366446	40366446	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccggcacgcgcaggcgcacGaagctgtccccatcgaaagc	9	3	13	16	6	0	0	0	0	0	0	2	2	1	0	3	2	2	4	3	2	2	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:40366446G>A	ENST00000221347.6	-	30	13795	c.13788C>T	c.(13786-13788)ttC>ttT	p.F4596F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4596	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCAGGCGCACGAAGCTGTCCC	0.667													12	96					0	0	0	0	A	40366446	G	A	40366446	2	1	210	1	0	0	0	0	0	0	0	1	5823	1049	37	1		1	FCGBP	19	40366446	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	487174	40366446	18762537	661	37897											
LTBP4	8425	broad.mit.edu	37	chr19	41114228	41114228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggagccaccccgagtgtCactcagccagcctcgtaccc	8	5	9	19	2	2	0	2	0	0	0	3	2	2	1	7	1	4	1	7	1	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:41114228C>T	ENST00000308370.7	+	11	1460	c.1460C>T	c.(1459-1461)tCa>tTa	p.S487L	LTBP4_ENST00000204005.9_Missense_Mutation_p.S450L|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.S420L|LTBP4_ENST00000545697.1_5'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	487	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCCGAGTGTCACTCAGCCAG	0.662													4	22					0	0	0	0	T	41114228	C	T	41114228	3	4	210	1	0	0	0	0	1	0	0	0	9140	838	29	2	1795	2	LTBP4	19	41114228	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	747782	41114228	18014755	662	37898											
GRIK5	2901	broad.mit.edu	37	chr19	42558056	42558056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgctgttgaactcgaccCgcccggtcagcccatcatac	7	10	8	16	3	2	1	2	1	0	0	3	2	2	1	3	1	4	2	3	1	2	3	rs137900269		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:42558056C>T	ENST00000262895.3	-	9	1081	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	GRIK5_ENST00000301218.4_Missense_Mutation_p.R361Q|GRIK5_ENST00000593562.1_Missense_Mutation_p.R361Q	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	361						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GAACTCGACCCGCCCGGTCAG	0.637													10	25					0	0	0	0	T	42558056	C	T	42558056	3	4	210	1	0	0	0	0	1	0	0	0	6827	652	23	1	1904	1	GRIK5	19	42558056	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1443828	42558056	16570927	663	37899											
ZNF234	10780	broad.mit.edu	37	chr19	44661807	44661807	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttaaatgtgaagagtgtggGaagagcttcagtcggagtgc	11	11	15	4	1	1	3	1	1	0	2	2	5	1	5	0	2	2	1	0	2	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:44661807G>A	ENST00000426739.2	+	6	1896	c.1638G>A	c.(1636-1638)ggG>ggA	p.G546G	ZNF234_ENST00000592437.1_Silent_p.G546G	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGAGTGTGGGAAGAGCTTCA	0.483													16	88					0	0	0	0	A	44661807	G	A	44661807	2	1	210	1	0	0	0	0	0	0	0	1	17882	1161	41	2		2	ZNF234	19	44661807	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2103751	44661807	14467176	664	37900											
ZNF233	353355	broad.mit.edu	37	chr19	44778176	44778176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagaaaccatataaatgtGaggtatgtgataagggcttc	15	10	12	4	0	0	3	0	2	0	1	1	5	0	3	1	2	1	2	1	2	6	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:44778176G>A	ENST00000391958.2	+	5	1490	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	ZNF233_ENST00000334152.1_Missense_Mutation_p.E437K|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ATATAAATGTGAGGTATGTGA	0.403													14	67					0	0	0	0	A	44778176	G	A	44778176	3	1	210	1	0	0	0	0	1	0	0	0	17881	1291	45	2	1377	2	ZNF233	19	44778176	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	116369	44778176	14350807	665	37901											
ZNF285	26974	broad.mit.edu	37	chr19	44892232	44892232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacttaacccctttgcctGaagattcaaaatgttgtttt	11	16	6	8	0	1	2	1	1	0	1	1	2	1	2	3	0	3	3	3	0	5	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:44892232G>T	ENST00000330997.4	-	4	239	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	ZNF285_ENST00000544719.2_Missense_Mutation_p.Q59K|ZNF285_ENST00000591679.1_Missense_Mutation_p.Q66K|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CCCTTTGCCTGAAGATTCAAA	0.398													11	72					6.40141e-05	0.000126941	1	0	T	44892232	G	T	44892232	3	4	210	1	0	0	0	0	1	0	0	0	17917	1299	45	2	1601	2	ZNF285	19	44892232	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	114056	44892232	14236751	666	37902											
ZNF296	162979	broad.mit.edu	37	chr19	45575215	45575215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcagggtcagttctttgttCcgtggtgatggctccccaag	5	13	13	10	1	2	1	1	1	1	0	4	1	4	1	3	3	1	4	3	3	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:45575215C>T	ENST00000303809.2	-	3	1286	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	358					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GTTCTTTGTTCCGTGGTGATG	0.652													12	149					0	0	0	0	T	45575215	C	T	45575215	3	4	210	1	0	0	0	0	1	0	0	0	17923	864	30	2	359	2	ZNF296	19	45575215	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	682983	45575215	13553768	667	37903											
DACT3	147906	broad.mit.edu	37	chr19	47151869	47151869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctgcacctgctccacccCcagaggccgcggtggccgcc	4	4	11	22	3	0	1	0	0	0	1	1	1	1	1	9	3	2	2	9	3	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:47151869C>T	ENST00000391916.2	-	4	1833	c.1760G>A	c.(1759-1761)gGg>gAg	p.G587E	DACT3_ENST00000300875.4_Missense_Mutation_p.G362E	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	587										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		TGCTCCACCCCCAGAGGCCGC	0.652													29	116					0	0	0	0	T	47151869	C	T	47151869	3	4	210	1	0	0	0	0	1	0	0	0	4256	623	22	4	133	4	DACT3	19	47151869	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1576654	47151869	11977114	668	37904											
SLC8A2	6543	broad.mit.edu	37	chr19	47969076	47969076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagtgacaaagaagactctCaggtgcttgatcttgcggct	10	10	12	9	1	2	4	1	2	2	2	3	4	2	4	0	2	2	3	0	2	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:47969076C>T	ENST00000236877.6	-	2	980	c.585G>A	c.(583-585)ctG>ctA	p.L195L	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	195					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGAAGACTCTCAGGTGCTTGA	0.552													6	31					0	0	0	0	T	47969076	C	T	47969076	2	4	210	1	0	0	0	0	0	0	0	1	14795	813	29	2		2	SLC8A2	19	47969076	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	817207	47969076	11159907	669	37905											
TPRX1	284355	broad.mit.edu	37	chr19	48305449	48305449	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcctgggcctgggatctgGgctgggctgggaatcgggcc	3	8	19	11	1	1	0	0	0	1	0	2	2	1	2	3	6	1	2	3	6	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:48305449G>C	ENST00000535759.1	-	4	1109	c.1110C>G	c.(1108-1110)gcC>gcG	p.A370A	TPRX1_ENST00000322175.3_Silent_p.A273A|TPRX1_ENST00000543508.1_Silent_p.A263A			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	273						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CTGGGATCTGGGCTGGGCTGG	0.637													4	18					0	0	0	0	C	48305449	G	C	48305449	2	2	210	1	0	0	0	0	0	0	0	1	16517	1219	43	4		4	TPRX1	19	48305449	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	336373	48305449	10823534	670	37906											
SPACA4	171169	broad.mit.edu	37	chr19	49110596	49110596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggctgggtatgctgcttcctCcacgtttgctgtgaccaaca	6	12	11	12	1	0	1	0	1	0	0	2	1	2	1	3	2	4	6	3	2	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:49110596C>G	ENST00000321762.1	+	1	597	c.361C>G	c.(361-363)Cca>Gca	p.P121A	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	121					cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GCTGCTTCCTCCACGTTTGCT	0.637													5	4					0	0	0	0	G	49110596	C	G	49110596	3	3	210	1	0	0	0	0	1	0	0	0	15062	855	30	2	363	2	SPACA4	19	49110596	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	805147	49110596	10018387	671	37907											
RUVBL2	10856	broad.mit.edu	37	chr19	49514288	49514288	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcaagtcagaagtccgtGagcagatcaatgccaaggtg	14	7	12	8	1	3	4	3	1	0	3	4	4	4	4	2	1	2	1	2	1	4	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:49514288G>C	ENST00000413176.2	+	10	1833	c.685G>C	c.(685-687)Gag>Cag	p.E229Q	RUVBL2_ENST00000595090.1_Missense_Mutation_p.E274Q|RUVBL2_ENST00000601968.1_Missense_Mutation_p.E229Q			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	274					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		AGAAGTCCGTGAGCAGATCAA	0.627													7	52					0	0	0	0	C	49514288	G	C	49514288	3	2	210	1	0	0	0	0	1	0	0	0	13838	1291	45	2	858	2	RUVBL2	19	49514288	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	403692	49514288	9614695	672	37908											
CCDC155	147872	broad.mit.edu	37	chr19	49912474	49912474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacctgaaggggcccagctGagaagagtgggctggaccga	10	5	16	10	1	0	3	0	2	0	2	0	6	0	4	3	4	2	2	3	4	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:49912474G>A	ENST00000447857.3	+	14	1285	c.1080G>A	c.(1078-1080)ctG>ctA	p.L360L		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	360						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GGGCCCAGCTGAGAAGAGTGG	0.632													5	19					0	0	0	0	A	49912474	G	A	49912474	2	1	210	1	0	0	0	0	0	0	0	1	2814	1277	45	2		2	CCDC155	19	49912474	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	398186	49912474	9216509	673	37909											
ZNF473	25888	broad.mit.edu	37	chr19	50549315	50549315	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgagagtgttcacgccAgagaaaaacaaggatttttt	14	9	10	8	2	1	2	1	0	0	2	1	5	1	3	2	1	1	1	2	1	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:50549315A>C	ENST00000595661.1	+	6	2110	c.1615A>C	c.(1615-1617)Aga>Cga	p.R539R	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Silent_p.R527R|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Silent_p.R539R|ZNF473_ENST00000391821.2_Silent_p.R539R|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	539	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGTTCACGCCAGAGAAAAACA	0.443													14	49					0	0	0	0	C	50549315	A	C	50549315	2	2	210	1	0	0	0	0	0	0	0	1	18026	180	7	5		5	ZNF473	19	50549315	Silent	SNP	A	TCGA-CR-7388-01A-11D-2012-08	636841	50549315	8579668	674	37910											
ACPT	93650	broad.mit.edu	37	chr19	51293713	51293713	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccaccctgctggacctctCctgctgctgctgctgctggt	2	11	12	16	0	1	0	0	0	1	0	2	1	1	1	4	3	6	6	4	3	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:51293713C>T	ENST00000270593.1	+	1	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L	ACPT_ENST00000270594.3_Silent_p.L14L	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	14						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGGACCTCTCctgctgctgc	0.711													3	3					0	0	0	0	T	51293713	C	T	51293713	2	4	210	1	0	0	0	0	0	0	0	1	168	842	30	2		2	ACPT	19	51293713	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	744398	51293713	7835270	675	37911											
SIGLEC12	89858	broad.mit.edu	37	chr19	51994940	51994940	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcatagccgatggcctcCtgttcctgtgggtactgagg	6	12	12	11	1	1	1	1	1	0	0	3	2	3	1	4	3	3	2	4	3	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:51994940C>A	ENST00000291707.3	-	8	1798	c.1743G>T	c.(1741-1743)caG>caT	p.Q581H	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.Q463H	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	581					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGATGGCCTCCTGTTCCTGTG	0.582													24	100					3.08376e-08	6.60914e-08	1	0	A	51994940	C	A	51994940	3	1	210	1	0	0	0	0	1	0	0	0	14396	680	24	4	48	4	SIGLEC12	19	51994940	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	701227	51994940	7134043	676	37912											
ZNF808	388558	broad.mit.edu	37	chr19	53058026	53058026	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataagagaattcatactggAgagaaaccatacagatgtca	18	8	8	7	0	2	3	2	0	0	3	2	6	2	4	1	1	3	0	1	1	5	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:53058026A>G	ENST00000359798.4	+	5	2037	c.1857A>G	c.(1855-1857)ggA>ggG	p.G619G		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TTCATACTGGAGAGAAACCAT	0.398													18	63					0	0	0	0	G	53058026	A	G	53058026	2	3	210	1	0	0	0	0	0	0	0	1	18266	291	11	5		5	ZNF808	19	53058026	Silent	SNP	A	TCGA-CR-7388-01A-11D-2012-08	1063086	53058026	6070957	677	37913											
ZNF347	84671	broad.mit.edu	37	chr19	53643887	53643887	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtaaggtttttttccagTatggattgcctgatgggtag	7	18	12	4	0	0	1	0	1	0	0	1	2	1	2	2	3	1	4	2	3	3	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:53643887T>G	ENST00000452676.2	-	5	2623	c.2197A>C	c.(2197-2199)Act>Cct	p.T733P	ZNF347_ENST00000601469.2_Missense_Mutation_p.T733P|ZNF347_ENST00000334197.7_Missense_Mutation_p.T732P|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTTTTTCCAGTATGGATTGCC	0.433													35	123					0	0	0	0	G	53643887	T	G	53643887	3	3	210	1	0	0	0	0	1	0	0	0	17956	1638	57	5	329	5	ZNF347	19	53643887	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	585861	53643887	5485096	678	37914											
ZNF761	388561	broad.mit.edu	37	chr19	53945743	53945743	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagttggctgagagatcagtAgccaagctggaaaagacaat	15	7	13	6	0	1	3	1	1	0	2	1	6	1	4	1	2	2	4	1	2	5	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:53945743A>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGAGATCAGTAGCCAAGCTGG	0.428													6	29					0	0	0	0	C	53945743	A	C	53945743	1	2	210	0	1	0	0	0	0	0	0	0	18230	435	15	5		5	ZNF761	19	53945743	RNA	SNP	A	TCGA-CR-7388-01A-11D-2012-08	301856	53945743	5183240	679	37915											
NLRP12	91662	broad.mit.edu	37	chr19	54313208	54313208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtggctcctggtctcctCgttcaggagtccaaacagga	8	9	12	12	1	2	0	1	0	1	0	6	2	4	2	3	5	1	2	3	5	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:54313208C>T	ENST00000324134.6	-	3	1873	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	NLRP12_ENST00000351894.4_Missense_Mutation_p.E569K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E569K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E569K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E569K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E569K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E569K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E569K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	569					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGGTCTCCTCGTTCAGGAGT	0.572													25	72					0	0	0	0	T	54313208	C	T	54313208	3	4	210	1	0	0	0	0	1	0	0	0	10544	893	31	1	1608	1	NLRP12	19	54313208	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	367465	54313208	4815775	680	37916											
LILRB3	11025	broad.mit.edu	37	chr19	54726424	54726424	+	Frame_Shift_Del	DEL	G	G	-																															tcagcccagagggtgggtttGgggaagggccctagatggaa																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:54726424delG	ENST00000391750.1	-	4	217	c.81delC	c.(79-81)ccfs	p.P27fs	LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000424807.1_Frame_Shift_Del_p.P27fs|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000346401.6_Frame_Shift_Del_p.P27fs|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRB3_ENST00000245620.9_Frame_Shift_Del_p.P27fs			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	27					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTGGGTTTGGGGAAGGGCC	0.632													6	7	---	---	---	---					-	54726424	G	-	54726424	7	5	210	1	0	1	0	1	0	0	0	0	8846	1335	47	0	1861	0	LILRB3	19	54726424	Frame_Shift_Del	DEL	G	TCGA-CR-7388-01A-11D-2012-08	413216	54726424	4402559	681	37917											
LILRB2	10288	broad.mit.edu	37	chr19	54782234	54782234	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaggactcatggggaattCagcctggtacttaggatatt	11	11	11	8	0	2	0	2	0	0	0	2	3	2	3	1	5	2	1	1	5	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:54782234C>G	ENST00000391748.1	-	7	1265	c.1138G>C	c.(1138-1140)Gaa>Caa	p.E380Q	LILRB2_ENST00000314446.5_Missense_Mutation_p.E380Q|LILRB2_ENST00000391746.1_Missense_Mutation_p.E380Q|LILRB2_ENST00000434421.1_Missense_Mutation_p.E264Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.E380Q	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	380	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGGGGAATTCAGCCTGGTAC	0.577													26	188					0	0	0	0	G	54782234	C	G	54782234	3	3	210	1	0	0	0	0	1	0	0	0	8845	835	29	2	690	2	LILRB2	19	54782234	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	55810	54782234	4346749	682	37918											
UBE2S	27338	broad.mit.edu	37	chr19	55915773	55915773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcaggaagtagcccttGggtggggaggcagggaagtc	8	8	19	6	0	1	0	1	0	0	0	2	3	1	3	1	7	1	2	1	7	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:55915773G>A	ENST00000264552.9	-	3	412	c.225C>T	c.(223-225)ccC>ccT	p.P75P	UBE2S_ENST00000589978.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	75					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		AGTAGCCCTTGGGTGGGGAGG	0.617													5	20					0	0	0	0	A	55915773	G	A	55915773	2	1	210	1	0	0	0	0	0	0	0	1	16968	1335	47	4		4	UBE2S	19	55915773	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1133539	55915773	3213210	683	37919											
NLRP9	338321	broad.mit.edu	37	chr19	56244612	56244612	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagctccagtaagctggtCtctgcgataccgttcatttc	8	12	10	11	2	2	0	1	0	1	0	5	2	3	1	2	2	4	4	2	2	2	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:56244612C>G	ENST00000332836.2	-	2	612	c.585G>C	c.(583-585)gaG>gaC	p.E195D		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	195	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTAAGCTGGTCTCTGCGATAC	0.458													7	28					0	0	0	0	G	56244612	C	G	56244612	3	3	210	1	0	0	0	0	1	0	0	0	10554	912	32	2	2422	2	NLRP9	19	56244612	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	328839	56244612	2884371	684	37920											
NLRP11	204801	broad.mit.edu	37	chr19	56300718	56300718	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcattagtagcaataactAtggcaatatattgacagata	16	14	6	5	0	1	2	1	1	0	1	1	2	1	2	0	1	2	3	0	1	9	9			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:56300718A>G	ENST00000443188.1	-	10	3271	c.2561T>C	c.(2560-2562)aTa>aCa	p.I854T	NLRP11_ENST00000360133.3_Missense_Mutation_p.I800T|NLRP11_ENST00000589824.2_Missense_Mutation_p.I800T|NLRP11_ENST00000589093.1_Missense_Mutation_p.I854T|NLRP11_ENST00000592953.1_Missense_Mutation_p.I755T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	854							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)		AGCAATAACTATGGCAATATA	0.423													25	115					0	0	0	0	G	56300718	A	G	56300718	3	3	210	1	0	0	0	0	1	0	0	0	10543	449	16	5	552	5	NLRP11	19	56300718	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	56106	56300718	2828265	685	37921											
ZNF835	90485	broad.mit.edu	37	chr19	57176264	57176264	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttggggcctccacctctCtcccgctggcggctgtcagg	2	11	12	16	2	3	0	1	0	2	0	6	0	5	0	4	5	0	2	4	5	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:57176264C>G	ENST00000537055.2	-	2	534	c.303G>C	c.(301-303)gaG>gaC	p.E101D		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTCCACCTCTCTCCCGCTGGC	0.642													16	45					0	0	0	0	G	57176264	C	G	57176264	3	3	210	1	0	0	0	0	1	0	0	0	18279	912	32	2	1312	2	ZNF835	19	57176264	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	875546	57176264	1952719	686	37922											
ZNF264	9422	broad.mit.edu	37	chr19	57723646	57723646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccactatgtcatccacaCtggagagaagccctttgagt	11	10	8	12	0	2	2	2	1	0	1	3	4	3	3	3	1	1	0	3	1	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:57723646C>T	ENST00000263095.6	+	4	1595	c.1181C>T	c.(1180-1182)aCt>aTt	p.T394I	ZNF264_ENST00000536056.1_Missense_Mutation_p.T394I	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GTCATCCACACTGGAGAGAAG	0.552													9	56					0	0	0	0	T	57723646	C	T	57723646	3	4	210	1	0	0	0	0	1	0	0	0	17899	565	20	4	1195	4	ZNF264	19	57723646	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	547382	57723646	1405337	687	37923											
SIRPG	55423	broad.mit.edu	37	chr20	1616920	1616920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgcagatgacctgagagCgaacgtcccaggggtccagt	9	6	13	13	3	0	3	0	2	0	2	3	5	2	3	4	2	2	1	4	2	1	0	rs148726891		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:1616920C>T	ENST00000381580.1	-	3	742	c.563G>A	c.(562-564)cGc>cAc	p.R188H	SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Missense_Mutation_p.R221H|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Missense_Mutation_p.R221H|SIRPG_ENST00000303415.3_Missense_Mutation_p.R221H			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	221	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GACCTGAGAGCGAACGTCCCA	0.617													21	75					0	0	0	0	T	1616920	C	T	1616920	3	4	210	1	0	0	0	0	1	0	0	0	14424	768	27	1	513	1	SIRPG	20	1616920	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08		1616920	61408600	688	37924											
VPS16	64601	broad.mit.edu	37	chr20	2842527	2842527	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcccgcagcacccacgagTtcctgcatgaggttccaggt	7	9	10	15	2	1	1	0	1	1	0	4	2	3	1	4	2	2	5	4	2	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:2842527T>G	ENST00000380445.3	+	10	1048	c.976T>G	c.(976-978)Ttc>Gtc	p.F326V	VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Intron	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	326					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CACCCACGAGTTCCTGCATGA	0.612													10	19					0	0	0	0	G	2842527	T	G	2842527	3	3	210	1	0	0	0	0	1	0	0	0	17289	1725	60	5	1014	5	VPS16	20	2842527	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	1225607	2842527	60182993	689	37925											
PLCB4	5332	broad.mit.edu	37	chr20	9416221	9416221	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctagatatcgtggatgctTtatcagatccaaagaaattt	13	13	7	8	1	1	3	1	0	0	3	3	4	2	4	2	1	1	1	2	1	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:9416221T>G	ENST00000378501.2	+	25	2518	c.2503T>G	c.(2503-2505)Tta>Gta	p.L835V	PLCB4_ENST00000278655.4_Missense_Mutation_p.L835V|PLCB4_ENST00000414679.2_Missense_Mutation_p.L847V|PLCB4_ENST00000378493.1_Missense_Mutation_p.L835V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.L835V|PLCB4_ENST00000378473.3_Missense_Mutation_p.L847V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	835					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CGTGGATGCTTTATCAGATCC	0.338													11	65					0	0	0	0	G	9416221	T	G	9416221	3	3	210	1	0	0	0	0	1	0	0	0	12102	1838	64	5	2641	5	PLCB4	20	9416221	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	6573694	9416221	53609299	690	37926											
ASXL1	171023	broad.mit.edu	37	chr20	31023983	31023983	+	Frame_Shift_Del	DEL	A	A	-																															ggatctttacatggtcttggAaaaaacagtggcatggttga																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:31023983delA	ENST00000375687.4	+	13	3892	c.3468delA	c.(3466-3468)ggfs	p.G1156fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G1151fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1156					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ATGGTCTTGGAAAAAACAGTG	0.507			"F, N, Mis"		"MDS, CMML"								20	78	---	---	---	---					-	31023983	A	-	31023983	7	5	210	1	0	1	0	1	0	0	0	0	1070	233	9	0	3524	0	ASXL1	20	31023983	Frame_Shift_Del	DEL	A	TCGA-CR-7388-01A-11D-2012-08	21607762	31023983	32001537	691	37927											
ITCH	83737	broad.mit.edu	37	chr20	33068494	33068494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttggactcaaggatttaGaatctattgatccagaattt	13	14	8	6	0	2	3	1	1	1	2	3	5	3	5	1	2	0	1	1	2	5	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:33068494G>C	ENST00000374864.4	+	19	2122	c.1909G>C	c.(1909-1911)Gaa>Caa	p.E637Q	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Missense_Mutation_p.E527Q|ITCH_ENST00000262650.6_Missense_Mutation_p.E678Q	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	678	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CAAGGATTTAGAATCTATTGA	0.323													18	43					0	0	0	0	C	33068494	G	C	33068494	3	2	210	1	0	0	0	0	1	0	0	0	7921	943	33	2	1975	2	ITCH	20	33068494	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2044511	33068494	29957026	692	37928											
GGT7	2686	broad.mit.edu	37	chr20	33440233	33440233	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcaggtcccatgatcagCacctgggcagccgtgggagc	8	7	13	13	1	3	1	3	1	0	0	4	2	4	2	3	3	3	2	3	3	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:33440233C>A	ENST00000336431.5	-	11	1472	c.1428G>T	c.(1426-1428)gtG>gtT	p.V476V	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	476					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CCATGATCAGCACCTGGGCAG	0.592													21	68					5.35356e-11	1.21112e-10	1	0	A	33440233	C	A	33440233	2	1	210	1	0	0	0	0	0	0	0	1	6415	697	25	4		4	GGT7	20	33440233	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	371739	33440233	29585287	693	37929											
GDF5	8200	broad.mit.edu	37	chr20	34022553	34022553	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaatgtcaaacacgtacctCtgcttcctgaccacgggacc	10	9	7	15	2	2	1	1	1	1	0	3	2	3	2	4	1	3	2	4	1	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:34022553C>G	ENST00000374372.1	-	4	1163	c.660G>C	c.(658-660)caG>caC	p.Q220H	GDF5OS_ENST00000374375.1_Silent_p.L199L|GDF5_ENST00000374369.3_Missense_Mutation_p.Q220H			P43026	GDF5_HUMAN	growth differentiation factor 5	220					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ACACGTACCTCTGCTTCCTGA	0.612													13	130					0	0	0	0	G	34022553	C	G	34022553	3	3	210	1	0	0	0	0	1	0	0	0	6367	912	32	2	849	2	GDF5	20	34022553	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	582320	34022553	29002967	694	37930											
BPI	671	broad.mit.edu	37	chr20	36948668	36948668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggctgagaccctggatgtaCagatgaaggtgaggctgaca	11	7	15	8	1	0	5	0	4	0	2	0	7	0	6	1	4	1	3	1	4	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:36948668C>A	ENST00000262865.4	+	7	849	c.760C>A	c.(760-762)Cag>Aag	p.Q254K	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	254					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCTGGATGTACAGATGAAGGT	0.483													6	25					0.00116845	0.00223601	1	0	A	36948668	C	A	36948668	3	1	210	1	0	0	0	0	1	0	0	0	1498	479	17	4	786	4	BPI	20	36948668	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2926115	36948668	26076852	695	37931											
SLC32A1	140679	broad.mit.edu	37	chr20	37356754	37356754	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcgcagcctgcgtgctCaagggcctcttcgcgctcgt	5	9	11	16	5	2	0	1	0	1	0	5	0	2	0	2	1	3	3	2	1	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:37356754C>A	ENST00000217420.1	+	2	1313	c.1050C>A	c.(1048-1050)ctC>ctA	p.L350L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	350					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCTGCGTGCTCAAGGGCCTCT	0.617													8	42					1.12685e-05	2.26795e-05	1	0	A	37356754	C	A	37356754	2	1	210	1	0	0	0	0	0	0	0	1	14653	813	29	2		2	SLC32A1	20	37356754	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	408086	37356754	25668766	696	37932											
ZHX3	23051	broad.mit.edu	37	chr20	39832463	39832463	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcctcaatctcctcaGgggaccagctgatcccctgc	7	8	10	16	0	3	1	2	1	1	0	6	2	5	2	5	3	2	2	5	3	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:39832463G>C	ENST00000309060.3	-	4	1509	c.1094C>G	c.(1093-1095)cCt>cGt	p.P365R	ZHX3_ENST00000544979.2_Missense_Mutation_p.P365R|ZHX3_ENST00000432768.2_Missense_Mutation_p.P365R|ZHX3_ENST00000540170.1_Missense_Mutation_p.P365R|ZHX3_ENST00000560361.1_Missense_Mutation_p.P365R|ZHX3_ENST00000559234.1_Missense_Mutation_p.P365R|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	365	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AATCTCCTCAGGGGACCAGCT	0.517													16	54					0	0	0	0	C	39832463	G	C	39832463	3	2	210	1	0	0	0	0	1	0	0	0	17772	1000	35	4	1784	4	ZHX3	20	39832463	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2475709	39832463	23193057	697	37933											
TOX2	84969	broad.mit.edu	37	chr20	42635314	42635314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaccactcgctgtgccacgGcctcacccccaacggtctgc	6	7	8	20	3	2	0	1	0	1	0	3	0	2	0	5	2	4	1	5	2	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:42635314G>T	ENST00000358131.5	+	3	528	c.320G>T	c.(319-321)gGc>gTc	p.G107V	TOX2_ENST00000372999.1_Missense_Mutation_p.G56V|TOX2_ENST00000341197.3_Missense_Mutation_p.G98V|TOX2_ENST00000423191.1_Missense_Mutation_p.G56V	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	107	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTGTGCCACGGCCTCACCCCC	0.622													12	66					4.36969e-10	9.75935e-10	1	0	T	42635314	G	T	42635314	3	4	210	1	0	0	0	0	1	0	0	0	16473	1203	42	4	433	4	TOX2	20	42635314	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2802851	42635314	20390206	698	37934											
JPH2	57158	broad.mit.edu	37	chr20	42743470	42743470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacaaagaggatggccaggCcgatgttcagcaggatcacc	13	5	13	10	1	2	1	2	0	0	1	2	5	2	3	3	4	2	2	3	4	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:42743470C>T	ENST00000372980.3	-	5	2929	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	686					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GATGGCCAGGCCGATGTTCAG	0.637													4	19					0	0	0	0	T	42743470	C	T	42743470	3	4	210	1	0	0	0	0	1	0	0	0	8014	739	26	4	37	4	JPH2	20	42743470	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	108156	42743470	20282050	699	37935											
ZMYND8	23613	broad.mit.edu	37	chr20	45865143	45865143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcaggtcagcgttgactGaggacacaagggtgctcatg	9	8	16	8	1	2	2	2	2	0	0	2	3	2	3	0	4	2	3	0	4	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:45865143G>A	ENST00000311275.7	-	16	2976	c.2723C>T	c.(2722-2724)tCa>tTa	p.S908L	ZMYND8_ENST00000446994.2_Missense_Mutation_p.S799L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.S935L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.S908L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.S776L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.S928L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.S862L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.S908L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.S857L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.S857L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.S856L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.S882L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.S882L			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	908							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGCGTTGACTGAGGACACAAG	0.587													11	97					0	0	0	0	A	45865143	G	A	45865143	3	1	210	1	0	0	0	0	1	0	0	0	17806	1294	45	2	953	2	ZMYND8	20	45865143	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3121673	45865143	17160377	700	37936											
SS18L1	26039	broad.mit.edu	37	chr20	60733801	60733801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaagacggccgagtgcaCgcagtgagtgcccgccatac	9	4	15	13	4	0	2	0	1	0	1	0	3	0	2	3	2	3	3	3	2	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:60733801C>T	ENST00000331758.3	+	2	169	c.143C>T	c.(142-144)aCg>aTg	p.T48M	SS18L1_ENST00000421564.1_Missense_Mutation_p.T48M	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	48	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GCCGAGTGCACGCAGTGAGTG	0.607			T	SSX1	synovial sarcoma								9	86					0	0	0	0	T	60733801	C	T	60733801	3	4	210	1	0	0	0	0	1	0	0	0	15266	536	19	1	149	1	SS18L1	20	60733801	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	14868658	60733801	2291719	701	37937											
TCFL5	10732	broad.mit.edu	37	chr20	61488904	61488904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgcccacattctgaatctCtccaagggctcttcgctcta	7	13	6	15	2	4	1	0	1	4	0	8	1	5	1	2	1	0	2	2	1	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:61488904C>T	ENST00000335351.3	-	4	1173	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	TCFL5_ENST00000217162.5_Missense_Mutation_p.E313K	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	361					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TTCTGAATCTCTCCAAGGGCT	0.562													9	97					0	0	0	0	T	61488904	C	T	61488904	3	4	210	1	0	0	0	0	1	0	0	0	15793	922	32	2	433	2	TCFL5	20	61488904	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	755103	61488904	1536616	702	37938											
DIDO1	11083	broad.mit.edu	37	chr20	61511825	61511825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtccaccaaggtaagagGgtgaggggcctctgctgtcc	7	8	16	10	0	1	2	0	1	1	1	3	2	3	2	4	5	1	2	4	5	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:61511825G>A	ENST00000266070.4	-	16	5808	c.5483C>T	c.(5482-5484)cCc>cTc	p.P1828L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1828L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1828	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AAGGTAAGAGGGTGAGGGGCC	0.602													19	75					0	0	0	0	A	61511825	G	A	61511825	3	1	210	1	0	0	0	0	1	0	0	0	4559	1232	43	4	1243	4	DIDO1	20	61511825	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	22921	61511825	1513695	703	37939											
BAGE2	85319	broad.mit.edu	37	chr21	11058340	11058340	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgaaaggggtaaaggAgagaaatctctttataaaac	17	9	10	5	1	1	2	0	1	1	1	3	4	1	3	0	3	1	2	0	3	7	4	rs28617310	by1000genomes	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363													8	98					0	0	0	0	C	11058340	A	C	11058340	1	2	210	0	1	0	0	0	0	0	0	0	1296	319	11	5		5	BAGE2	21	11058340	RNA	SNP	A	TCGA-CR-7388-01A-11D-2012-08		11058340	37071555	704	37940											
KRTAP13-4	284827	broad.mit.edu	37	chr21	31802642	31802642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctcctcccgctcctttgggGgctacctgtactacccaggc	4	11	9	17	1	1	0	0	0	1	0	4	0	3	0	5	3	3	3	5	3	3	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:31802642G>T	ENST00000334068.2	+	1	71	c.49G>T	c.(49-51)Ggc>Tgc	p.G17C		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	17						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTCCTTTGGGGGCTACCTGTA	0.552													26	72					4.59853e-10	1.02574e-09	1	0	T	31802642	G	T	31802642	3	4	210	1	0	0	0	0	1	0	0	0	8577	1232	43	4	51	4	KRTAP13-4	21	31802642	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	20744302	31802642	16327253	705	37941											
DSCAM	1826	broad.mit.edu	37	chr21	41719757	41719757	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggttgaggatttcaccAttgcggtaccaggagagttc	9	10	13	9	1	1	2	1	1	0	1	2	4	1	3	3	4	2	3	3	4	1	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:41719757A>G	ENST00000400454.1	-	6	1527	c.1050T>C	c.(1048-1050)aaT>aaC	p.N350N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	350	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGATTTCACCATTGCGGTACC	0.507													33	105					0	0	0	0	G	41719757	A	G	41719757	2	3	210	1	0	0	0	0	0	0	0	1	4804	214	8	5		5	DSCAM	21	41719757	Silent	SNP	A	TCGA-CR-7388-01A-11D-2012-08	9917115	41719757	6410138	706	37942											
RIPK4	54101	broad.mit.edu	37	chr21	43161808	43161808	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccgtgtgctagactcgtcCccgttctgggctgcaaagtg	6	10	13	12	3	1	1	0	0	1	1	3	1	2	1	3	1	3	4	3	1	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:43161808C>T	ENST00000352483.2	-	9	1753	c.1689G>A	c.(1687-1689)ggG>ggA	p.G563G	RIPK4_ENST00000542057.1_Silent_p.G452G|RIPK4_ENST00000332512.3_Silent_p.G515G|RIPK4_ENST00000544709.1_Silent_p.G452G			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	515						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						TAGACTCGTCCCCGTTCTGGG	0.647													11	53					0	0	0	0	T	43161808	C	T	43161808	2	4	210	1	0	0	0	0	0	0	0	1	13468	610	22	4		4	RIPK4	21	43161808	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1442051	43161808	4968087	707	37943											
SLC19A1	6573	broad.mit.edu	37	chr21	46945761	46945761	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgggaggcccaggccccgCacgtccgagacaatgaaagt	11	3	13	14	4	0	2	0	1	0	1	1	4	1	3	5	3	0	1	5	3	2	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:46945761C>A	ENST00000311124.4	-	5	1415	c.1263G>T	c.(1261-1263)gtG>gtT	p.V421V	SLC19A1_ENST00000567670.1_Silent_p.V421V|SLC19A1_ENST00000485649.2_Silent_p.V381V|SLC19A1_ENST00000380010.4_Silent_p.V421V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	421					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CCAGGCCCCGCACGTCCGAGA	0.582													20	59					4.35082e-09	9.52285e-09	1	0	A	46945761	C	A	46945761	2	1	210	1	0	0	0	0	0	0	0	1	14516	697	25	4		4	SLC19A1	21	46945761	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3783953	46945761	1184134	708	37944											
CCT8L2	150160	broad.mit.edu	37	chr22	17072993	17072993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccagagattggatggccaGggagggcagtgtggccagga	9	5	18	9	0	0	1	0	0	0	1	0	5	0	4	4	6	0	1	4	6	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:17072993G>T	ENST00000359963.3	-	1	707	c.448C>A	c.(448-450)Ctg>Atg	p.L150M		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	150					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGATGGCCAGGGAGGGCAGT	0.637													26	48					2.12542e-12	4.94894e-12	1	0	T	17072993	G	T	17072993	3	4	210	1	0	0	0	0	1	0	0	0	2990	991	35	4	1229	4	CCT8L2	22	17072993	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08		17072993	34231573	709	37945											
RGL4	266747	broad.mit.edu	37	chr22	24039430	24039430	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggccatcccggacgacctgGatgtgagtgagcctggggca	7	6	16	12	3	0	2	0	2	0	0	1	5	1	4	4	5	1	1	4	5	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:24039430G>C	ENST00000290691.5	+	8	2404	c.1234G>C	c.(1234-1236)Gat>Cat	p.D412H	RGL4_ENST00000401461.1_Missense_Mutation_p.D276H	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	412	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GGACGACCTGGATGTGAGTGA	0.607													6	81					0	0	0	0	C	24039430	G	C	24039430	3	2	210	1	0	0	0	0	1	0	0	0	13361	1174	41	2	1264	2	RGL4	22	24039430	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	6966437	24039430	27265136	710	37946											
SMTN	6525	broad.mit.edu	37	chr22	31492986	31492986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcccctgcccctgcagatGatggcacacggacggcccgc	7	5	11	18	3	0	2	0	1	0	1	1	3	1	3	5	3	2	2	5	3	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:31492986G>A	ENST00000333137.7	+	15	2247	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N	SMTN_ENST00000358743.1_Missense_Mutation_p.D677N|SMTN_ENST00000347557.2_Missense_Mutation_p.D677N|SMTN_ENST00000404574.1_Intron	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	677					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCCTGCAGATGATGGCACACG	0.657													5	42					0	0	0	0	A	31492986	G	A	31492986	3	1	210	1	0	0	0	0	1	0	0	0	14902	1290	45	2	2083	2	SMTN	22	31492986	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	7453556	31492986	19811580	711	37947											
APOL2	23780	broad.mit.edu	37	chr22	36629289	36629289	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaaggttttccttaacccTtgagaacgagaaaacaaatt	15	11	8	7	1	0	2	0	1	0	2	1	5	1	3	2	2	3	1	2	2	6	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:36629289T>C	ENST00000249066.6	-	4	398		c.e4-2		APOL2_ENST00000451256.2_Splice_Site|APOL2_ENST00000358502.5_Splice_Site	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2						acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TCCTTAACCCTTGAGAACGAG	0.567													30	38					0	0	0	0	C	36629289	T	C	36629289	5	2	210	1	0	0	0	0	0	0	1	0	808	1623	56	5		5	APOL2	22	36629289	Splice_Site	SNP	T	TCGA-CR-7388-01A-11D-2012-08	5136303	36629289	14675277	712	37948											
ENTHD1	150350	broad.mit.edu	37	chr22	40283410	40283410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttaaccattaccttggtCttttccagcttcatctatgt	7	19	4	11	0	4	0	1	0	3	0	5	0	5	0	3	1	3	1	3	1	3	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:40283410C>G	ENST00000325157.6	-	2	593	c.343G>C	c.(343-345)Gac>Cac	p.D115H		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	115	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTACCTTGGTCTTTTCCAGCT	0.443													4	72					0	0	0	0	G	40283410	C	G	40283410	3	3	210	1	0	0	0	0	1	0	0	0	5175	913	32	2	1504	2	ENTHD1	22	40283410	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	3654121	40283410	11021156	713	37949											
MPPED1	758	broad.mit.edu	37	chr22	43830958	43830958	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcatctctccctgcagggtgGacccggtgcctcacgatgcc	5	9	11	16	2	3	0	2	0	1	0	5	2	4	1	4	3	3	1	4	3	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:43830958G>C	ENST00000417669.1	+	3	673	c.229G>C	c.(229-231)Gac>Cac	p.D77H	MPPED1_ENST00000443721.1_Missense_Mutation_p.D77H|MPPED1_ENST00000542779.1_Missense_Mutation_p.D77H|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000538182.1_Missense_Mutation_p.D110H			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	77							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CTGCAGGGTGGACCCGGTGCC	0.657													14	130					0	0	0	0	C	43830958	G	C	43830958	3	2	210	1	0	0	0	0	1	0	0	0	9811	1174	41	2	235	2	MPPED1	22	43830958	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3547548	43830958	7473608	714	37950											
PNPLA3	80339	broad.mit.edu	37	chr22	44340664	44340664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgagtgctgatgtgtctgctCcccgcctccaggtaaatact	7	11	10	13	2	1	1	0	1	1	0	3	2	3	1	4	1	3	3	4	1	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:44340664C>T	ENST00000216180.3	+	8	1379	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	PNPLA3_ENST00000423180.2_Silent_p.L398L	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	402					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				TGTGTCTGCTCCCCGCCTCCA	0.567													6	90					0	0	0	0	T	44340664	C	T	44340664	2	4	210	1	0	0	0	0	0	0	0	1	12238	842	30	2		2	PNPLA3	22	44340664	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	509706	44340664	6963902	715	37951											
CSF2RA	1438	broad.mit.edu	37	chrX	1407736	1407736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgggcgaggggtccgaCggccccccgtgacgtccagt	5	6	15	15	5	0	1	0	1	0	0	2	3	2	1	6	4	1	0	6	4	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:1407736C>T	ENST00000381524.3	+	6	614	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CSF2RA_ENST00000355432.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000361536.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000501036.2_Missense_Mutation_p.T10M|CSF2RA_ENST00000381529.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000381509.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000355805.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000381500.1_Missense_Mutation_p.T143M|CSF2RA_ENST00000432318.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000417535.2_Missense_Mutation_p.T143M			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	143						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGGGGTCCGACGGCCCCCCGT	0.473													25	134					0	0	0	0	T	1407736	C	T	1407736	3	4	210	1	0	0	0	0	1	0	0	0	3966	536	19	1	442	1	CSF2RA	23	1407736	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08		1407736	153862824	716	37952											
WWC3	55841	broad.mit.edu	37	chrX	10092369	10092369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggagatccccagatccacGtgggactcctgtgagtacag	10	7	12	12	2	0	3	0	1	0	2	3	5	3	4	4	2	1	1	4	2	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:10092369G>T	ENST00000380861.4	+	13	2207	c.1816G>T	c.(1816-1818)Gtg>Ttg	p.V606L	WWC3_ENST00000454666.1_Missense_Mutation_p.V606L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	606										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCAGATCCACGTGGGACTCCT	0.607													23	43					9.95505e-16	2.39441e-15	1	0	T	10092369	G	T	10092369	3	4	210	1	0	0	0	0	1	0	0	0	17509	1145	40	3	1862	3	WWC3	23	10092369	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	8684633	10092369	145178191	717	37953											
ARHGAP6	395	broad.mit.edu	37	chrX	11272776	11272776	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagactctggatggggaCtgacctcagccgtacactgc	9	8	13	11	1	2	3	1	2	1	1	2	6	2	5	2	3	3	1	2	3	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:11272776C>G	ENST00000337414.4	-	2	1512	c.640G>C	c.(640-642)Gtc>Ctc	p.V214L	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.V39L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.V11L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.V214L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.V246L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.V11L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.V23L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	214					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGGATGGGGACTGACCTCAGC	0.488													9	88					0	0	0	0	G	11272776	C	G	11272776	3	3	210	1	0	0	0	0	1	0	0	0	889	565	20	4	2454	4	ARHGAP6	23	11272776	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1180407	11272776	143997784	718	37954											
TLR8	51311	broad.mit.edu	37	chrX	12937728	12937728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taacaaagtttgcgagaaaaCtaacatagaagatggagtat	19	9	9	4	1	0	3	0	0	0	3	0	5	0	4	0	1	4	2	0	1	8	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:12937728C>A	ENST00000218032.6	+	2	656	c.569C>A	c.(568-570)aCt>aAt	p.T190N	TLR8_ENST00000311912.5_Missense_Mutation_p.T208N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	190					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGCGAGAAAACTAACATAGAA	0.358													27	75					7.92952e-12	1.81736e-11	1	0	A	12937728	C	A	12937728	3	1	210	1	0	0	0	0	1	0	0	0	16051	565	20	4	575	4	TLR8	23	12937728	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1664952	12937728	142332832	719	37955											
AP1S2	8905	broad.mit.edu	37	chrX	15863569	15863569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatgtttcctgaacttccCctcccaaaagaaactcatcc	11	11	5	14	0	1	2	1	1	0	1	5	3	5	3	5	1	2	1	5	1	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:15863569C>A	ENST00000380291.1	-	4	475	c.359G>T	c.(358-360)gGg>gTg	p.G120V	AP1S2_ENST00000421527.2_Missense_Mutation_p.G162V|AP1S2_ENST00000329235.2_Missense_Mutation_p.G120V|AP1S2_ENST00000545766.1_Missense_Mutation_p.G162V|AP1S2_ENST00000479184.1_5'UTR			P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	120					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					CTGAACTTCCCCTCCCAAAAG	0.358													21	73					5.35047e-06	1.09192e-05	1	0	A	15863569	C	A	15863569	3	1	210	1	0	0	0	0	1	0	0	0	738	623	22	4	122	4	AP1S2	23	15863569	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2925841	15863569	139406991	720	37956											
NHS	4810	broad.mit.edu	37	chrX	17746379	17746379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgcttcaggtatttcaGccaaaagtgcctctgataac	12	13	7	9	0	3	1	2	1	1	0	3	1	3	1	2	1	4	2	2	1	5	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:17746379G>T	ENST00000380060.3	+	6	4428	c.4090G>T	c.(4090-4092)Gcc>Tcc	p.A1364S	NHS_ENST00000398097.3_Missense_Mutation_p.A1208S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1364						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGGTATTTCAGCCAAAAGTGC	0.403													17	36					5.3912e-06	1.09767e-05	1	0	T	17746379	G	T	17746379	3	4	210	1	0	0	0	0	1	0	0	0	10481	971	34	4	4217	4	NHS	23	17746379	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1882810	17746379	137524181	721	37957											
BEND2	139105	broad.mit.edu	37	chrX	18221663	18221663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agatgacaaggctctacctgGgcccacattttcattttctg	9	13	8	11	0	3	2	1	1	2	1	3	2	3	2	2	2	1	1	2	2	2	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:18221663G>T	ENST00000380033.4	-	5	997	c.865C>A	c.(865-867)Cca>Aca	p.P289T	BEND2_ENST00000380030.3_Missense_Mutation_p.P289T	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	289										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCTCTACCTGGGCCCACATTT	0.418													28	95					9.39395e-14	2.21981e-13	1	0	T	18221663	G	T	18221663	3	4	210	1	0	0	0	0	1	0	0	0	1402	1232	43	4	1600	4	BEND2	23	18221663	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	475284	18221663	137048897	722	37958											
RS1	6247	broad.mit.edu	37	chrX	18660202	18660202	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcccagcgggatgaggcgGatgaagcgggagatgatggg	10	4	20	7	3	0	4	0	3	0	1	0	7	0	6	1	5	3	0	1	5	1	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:18660202G>T	ENST00000379984.3	-	6	637	c.597C>A	c.(595-597)atC>atA	p.I199I	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	199	F5/8 type C.		I -> T (in XLRS1).		cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GGATGAGGCGGATGAAGCGGG	0.617													22	72					7.87624e-14	1.86621e-13	1	0	T	18660202	G	T	18660202	2	4	210	1	0	0	0	0	0	0	0	1	13778	1164	41	2		2	RS1	23	18660202	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	438539	18660202	136610358	723	37959											
PPEF1	5475	broad.mit.edu	37	chrX	18842187	18842187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttccagaatatccgcattGaaaaacctgtacaagaggca	15	8	8	10	1	0	3	0	1	0	2	2	3	2	3	3	1	2	4	3	1	6	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:18842187G>A	ENST00000361511.4	+	17	2142	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.E497K|PPEF1_ENST00000349874.5_Missense_Mutation_p.E488K|PPEF1_ENST00000544635.1_Missense_Mutation_p.E485K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	550					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TATCCGCATTGAAAAACCTGT	0.463													9	56					0	0	0	0	A	18842187	G	A	18842187	3	1	210	1	0	0	0	0	1	0	0	0	12378	1291	45	2	1702	2	PPEF1	23	18842187	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	181985	18842187	136428373	724	37960											
SH3KBP1	30011	broad.mit.edu	37	chrX	19854368	19854368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagctcatcatcgtgctGggcctggtagtcaaactcca	8	10	10	13	2	4	0	4	0	0	0	6	0	5	0	2	2	3	3	2	2	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:19854368G>T	ENST00000397821.3	-	2	327	c.37C>A	c.(37-39)Cag>Aag	p.Q13K	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.Q13K	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	13	SH3 1.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCATCGTGCTGGGCCTGGTAG	0.532													44	110					1.32136e-16	3.18691e-16	1	0	T	19854368	G	T	19854368	3	4	210	1	0	0	0	0	1	0	0	0	14343	1357	47	4	2099	4	SH3KBP1	23	19854368	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1012181	19854368	135416192	725	37961											
KLHL34	257240	broad.mit.edu	37	chrX	21675204	21675204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagagcccgagtacacgcGccgcagtacgtcggcgggaa	9	3	15	14	7	0	1	0	0	0	1	1	3	0	2	3	2	3	3	3	2	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:21675204G>T	ENST00000379499.2	-	1	1244	c.703C>A	c.(703-705)Cgc>Agc	p.R235S		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	235	BACK.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GAGTACACGCGCCGCAGTACG	0.667													36	32					6.19805e-25	1.53722e-24	1	0	T	21675204	G	T	21675204	3	4	210	1	0	0	0	0	1	0	0	0	8439	1087	38	3	1235	3	KLHL34	23	21675204	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1820836	21675204	133595356	726	37962											
YY2	404281	broad.mit.edu	37	chrX	21875297	21875297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcattgatctctcagatcCtaaacagctggcagaattta	13	11	8	9	0	2	3	1	1	1	2	4	3	3	3	1	2	2	3	1	2	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:21875297C>T	ENST00000429584.2	+	1	1193	c.695C>T	c.(694-696)cCt>cTt	p.P232L	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CTCTCAGATCCTAAACAGCTG	0.483													179	219					0	0	0	0	T	21875297	C	T	21875297	3	4	210	1	0	0	0	0	1	0	0	0	17605	681	24	4	697	4	YY2	23	21875297	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	200093	21875297	133395263	727	37963											
ACOT9	23597	broad.mit.edu	37	chrX	23749058	23749058	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcctgtgatttagccaaGaaactatgaagtaatttcct	13	13	6	9	0	0	3	0	2	0	1	2	3	2	3	4	0	2	1	4	0	6	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:23749058G>A	ENST00000379303.5	-	5	365	c.237C>T	c.(235-237)ttC>ttT	p.F79F	ACOT9_ENST00000336430.7_Silent_p.F70F|ACOT9_ENST00000492081.1_Silent_p.F10F|ACOT9_ENST00000379295.1_Silent_p.F10F	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	70					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						ATTTAGCCAAGAAACTATGAA	0.418													7	138					0	0	0	0	A	23749058	G	A	23749058	2	1	210	1	0	0	0	0	0	0	0	1	157	933	33	2		2	ACOT9	23	23749058	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1873761	23749058	131521502	728	37964											
POLA1	5422	broad.mit.edu	37	chrX	24742495	24742495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaacaggaactccaatttCaatgaaggatgtttatgagg	16	10	10	5	0	1	3	1	2	0	1	2	5	2	5	1	3	2	1	1	3	6	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:24742495C>T	ENST00000379068.3	+	12	1287	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	POLA1_ENST00000379059.3_Missense_Mutation_p.S409L			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	409					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ACTCCAATTTCAATGAAGGAT	0.328													7	69					0	0	0	0	T	24742495	C	T	24742495	3	4	210	1	0	0	0	0	1	0	0	0	12259	838	29	2	1272	2	POLA1	23	24742495	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	993437	24742495	130528065	729	37965											
MAGEB6	158809	broad.mit.edu	37	chrX	26212208	26212208	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agttgtttcatattcaaaatCcgatgtggctgccaacggcc	10	12	9	10	2	2	0	2	0	0	0	3	1	3	0	3	2	2	3	3	2	4	4	rs138482118	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:26212208C>A	ENST00000379034.1	+	2	394	c.245C>A	c.(244-246)tCc>tAc	p.S82Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	82	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TATTCAAAATCCGATGTGGCT	0.542													22	70					1.96292e-10	4.40651e-10	1	0	A	26212208	C	A	26212208	3	1	210	1	0	0	0	0	1	0	0	0	9248	855	30	2	247	2	MAGEB6	23	26212208	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1469713	26212208	129058352	730	37966											
MAGEB3	4114	broad.mit.edu	37	chrX	30254265	30254265	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actatccaccactacatctgTagatgtttcttacaaaaagt	14	13	4	10	0	2	1	0	0	2	1	3	1	3	1	2	0	2	2	2	0	6	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:30254265T>C	ENST00000361644.2	+	5	961	c.224T>C	c.(223-225)gTa>gCa	p.V75A	MAGEB3_ENST00000378986.1_Missense_Mutation_p.V75A	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	75										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						ACTACATCTGTAGATGTTTCT	0.458													5	17					0	0	0	0	C	30254265	T	C	30254265	3	2	210	1	0	0	0	0	1	0	0	0	9246	1638	57	5	226	5	MAGEB3	23	30254265	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	4042057	30254265	125016295	731	37967											
MAGEB1	4112	broad.mit.edu	37	chrX	30269583	30269583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagtgttagagccaggCgtcgcactactgccacgact	9	8	11	13	3	0	1	0	0	0	1	2	3	1	1	3	1	3	2	3	1	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:30269583C>A	ENST00000378981.3	+	4	1294	c.973C>A	c.(973-975)Cgt>Agt	p.R325S	MAGEB1_ENST00000397548.2_Missense_Mutation_p.R325S|MAGEB1_ENST00000397550.1_Missense_Mutation_p.R325S	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	325								p.R325C(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TAGAGCCAGGCGTCGCACTAC	0.527													19	76					4.96729e-08	1.05812e-07	1	0	A	30269583	C	A	30269583	3	1	210	1	0	0	0	0	1	0	0	0	9241	768	27	3	975	3	MAGEB1	23	30269583	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	15318	30269583	125000977	732	37968											
GK	2710	broad.mit.edu	37	chrX	30738843	30738843	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctacaagcagacattCtgtatataccagtaggttag	13	11	9	8	0	1	1	0	0	1	1	1	1	1	1	1	1	5	6	1	1	7	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:30738843C>A	ENST00000378943.3	+	16	1503	c.1324C>A	c.(1324-1326)Ctg>Atg	p.L442M	RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000427190.1_Missense_Mutation_p.L243M|GK_ENST00000378946.3_Missense_Mutation_p.L448M|GK_ENST00000378945.3_Missense_Mutation_p.L442M|GK-AS1_ENST00000464659.1_RNA	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	448					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						AGCAGACATTCTGTATATACC	0.398													32	86					3.03874e-20	7.42097e-20	1	0	A	30738843	C	A	30738843	3	1	210	1	0	0	0	0	1	0	0	0	6471	912	32	2	1408	2	GK	23	30738843	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	469260	30738843	124531717	733	37969											
TAB3	257397	broad.mit.edu	37	chrX	30872655	30872655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctattaattgctgtcccaGgtctttgagaaggttcaact	9	15	8	9	0	2	1	1	1	1	1	4	2	4	1	2	2	2	2	2	2	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:30872655G>T	ENST00000378933.1	-	3	1304	c.1127C>A	c.(1126-1128)cCt>cAt	p.P376H	TAB3_ENST00000288422.2_Missense_Mutation_p.P376H|TAB3_ENST00000378930.3_Missense_Mutation_p.P376H|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378932.2_Missense_Mutation_p.P376H	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	376	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGCTGTCCCAGGTCTTTGAGA	0.438													30	116					5.60225e-13	1.30794e-12	1	0	T	30872655	G	T	30872655	3	4	210	1	0	0	0	0	1	0	0	0	15588	1000	35	4	1035	4	TAB3	23	30872655	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	133812	30872655	124397905	734	37970											
DMD	1756	broad.mit.edu	37	chrX	31792249	31792249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagatggcatttctagtttgGagatggcagtttccttagta	10	15	11	5	0	1	2	0	0	1	2	2	3	2	2	1	3	0	5	1	3	4	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:31792249G>T	ENST00000357033.4	-	51	7576	c.7370C>A	c.(7369-7371)tCc>tAc	p.S2457Y	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.S2453Y|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2457					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTAGTTTGGAGATGGCAGT	0.433													17	55					2.4624e-09	5.42347e-09	1	0	T	31792249	G	T	31792249	3	4	210	1	0	0	0	0	1	0	0	0	4617	1174	41	2	3951	2	DMD	23	31792249	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	919594	31792249	123478311	735	37971											
FAM47A	158724	broad.mit.edu	37	chrX	34149176	34149176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccaggcggagatggcacactCcagtcttgggaggcactggg	8	6	16	11	1	1	1	0	0	1	1	2	3	2	2	2	6	0	2	2	6	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:34149176C>G	ENST00000346193.3	-	1	1271	c.1220G>C	c.(1219-1221)gGa>gCa	p.G407A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	407										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATGGCACACTCCAGTCTTGGG	0.567													16	75					0	0	0	0	G	34149176	C	G	34149176	3	3	210	1	0	0	0	0	1	0	0	0	5616	855	30	2	1159	2	FAM47A	23	34149176	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2356927	34149176	121121384	736	37972											
FAM47B	170062	broad.mit.edu	37	chrX	34962278	34962278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aactgtttcaggaagatacaCcaagcacaatggagtgtgtt	14	10	10	7	0	1	1	1	0	0	1	1	3	1	3	1	2	3	3	1	2	5	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:34962278C>T	ENST00000329357.5	+	1	1366	c.1330C>T	c.(1330-1332)Cca>Tca	p.P444S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	444										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGAAGATACACCAAGCACAAT	0.512													17	93					0	0	0	0	T	34962278	C	T	34962278	3	4	210	1	0	0	0	0	1	0	0	0	5617	507	18	4	1332	4	FAM47B	23	34962278	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	813102	34962278	120308282	737	37973											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													5	125					0	0	0	0	G	37028425	A	G	37028425	3	3	210	1	0	0	0	0	1	0	0	0	5618	130	5	5	1944	5	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	2066147	37028425	118242135	738	37974											
CXorf27	25763	broad.mit.edu	37	chrX	37850395	37850395	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacagcgctgagagtgaTgtgactcgctttttgtttga	7	13	11	10	2	0	4	0	4	0	1	1	5	0	4	2	0	1	3	2	0	0	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:37850395T>A	ENST00000341016.3	+	1	326	c.303T>A	c.(301-303)gaT>gaA	p.D101E	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	101							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						CTGAGAGTGATGTGACTCGCT	0.527													11	31					0	0	0	0	A	37850395	T	A	37850395	3	1	210	1	0	0	0	0	1	0	0	0	4137	1461	51	5	305	5	CXorf27	23	37850395	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	821970	37850395	117420165	739	37975											
BCOR	54880	broad.mit.edu	37	chrX	39932751	39932751	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggttgctggctttggcGcccttgctgctggtgctgct	0	15	15	11	1	1	0	0	0	1	0	1	0	1	0	1	4	5	7	1	4	0	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:39932751G>T	ENST00000342274.4	-	4	2210	c.1848C>A	c.(1846-1848)ggC>ggA	p.G616G	BCOR_ENST00000397354.3_Silent_p.G616G|BCOR_ENST00000378455.4_Silent_p.G616G|BCOR_ENST00000378444.4_Silent_p.G616G	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	616					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGCTTTGGCGCCCTTGCTGC	0.567			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						22	67					4.26978e-12	9.81152e-12	1	0	T	39932751	G	T	39932751	2	4	210	1	0	0	0	0	0	0	0	1	1390	1074	38	3		3	BCOR	23	39932751	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2082356	39932751	115337809	740	37976											
SSX5	6758	broad.mit.edu	37	chrX	48049698	48049698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcctctgctggcttctcggGcgtgatctttataatgtgaa	6	16	10	9	2	3	2	0	2	3	0	5	2	4	2	1	2	1	2	1	2	3	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:48049698G>A	ENST00000311798.1	-	7	512	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	SSX5_ENST00000347757.1_Missense_Mutation_p.P113S|SSX5_ENST00000376923.1_Missense_Mutation_p.P113S	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GGCTTCTCGGGCGTGATCTTT	0.438													54	243					0	0	0	0	A	48049698	G	A	48049698	3	1	210	1	0	0	0	0	1	0	0	0	15298	1203	42	4	237	4	SSX5	23	48049698	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	8116947	48049698	107220862	741	37977											
WAS	7454	broad.mit.edu	37	chrX	48542680	48542680	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctcccagacgctggcCactgcagttgttcagctgta	6	12	9	14	1	2	1	1	0	1	1	4	1	3	1	3	1	2	6	3	1	1	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:48542680C>A	ENST00000376701.4	+	2	216	c.141C>A	c.(139-141)gcC>gcA	p.A47A	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	47	WH1.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AGACGCTGGCCACTGCAGTTG	0.602			"Mis, N, F, S"			lymphoma							18	48					2.35188e-11	5.34824e-11	1	0	A	48542680	C	A	48542680	2	1	210	1	0	0	0	0	0	0	0	1	17347	581	21	4		4	WAS	23	48542680	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	492982	48542680	106727880	742	37978											
HDAC6	10013	broad.mit.edu	37	chrX	48672940	48672940	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accacaggtttcggccaaggCcaaggatataccatcaatgt	13	8	9	11	1	1	0	1	0	0	0	2	1	1	1	4	4	1	1	4	4	5	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:48672940C>A	ENST00000334136.5	+	11	1078	c.900C>A	c.(898-900)ggC>ggA	p.G300G	HDAC6_ENST00000376619.2_Silent_p.G300G|HDAC6_ENST00000444343.2_Silent_p.G314G|HDAC6_ENST00000413163.2_Silent_p.G245G			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	300	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TCGGCCAAGGCCAAGGATATA	0.602													11	56					1.33987e-11	3.05882e-11	1	0	A	48672940	C	A	48672940	2	1	210	1	0	0	0	0	0	0	0	1	7061	726	26	4		4	HDAC6	23	48672940	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	130260	48672940	106597620	743	37979											
KCND1	3750	broad.mit.edu	37	chrX	48826247	48826247	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctctgccaggcgctcGgcattctccttctttcggtc	3	14	8	16	3	4	0	1	0	3	0	9	0	5	0	3	3	1	2	3	3	0	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:48826247G>T	ENST00000218176.3	-	1	1729	c.432C>A	c.(430-432)gcC>gcA	p.A144A		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	144						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CCAGGCGCTCGGCATTCTCCT	0.657													9	19					1.12685e-05	2.26795e-05	1	0	T	48826247	G	T	48826247	2	4	210	1	0	0	0	0	0	0	0	1	8071	1103	39	3		3	KCND1	23	48826247	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	153307	48826247	106444313	744	37980											
CCDC120	90060	broad.mit.edu	37	chrX	48921431	48921431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccctgagtgcccactagagCctggtgaacggccccagttg	7	7	12	15	1	0	3	0	2	0	1	0	3	0	3	6	2	3	1	6	2	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:48921431C>A	ENST00000376396.3	+	5	442	c.223C>A	c.(223-225)Cct>Act	p.P75T	CCDC120_ENST00000603986.1_Missense_Mutation_p.P110T|CCDC120_ENST00000597275.1_Missense_Mutation_p.P75T|CCDC120_ENST00000496529.2_Missense_Mutation_p.P75T|CCDC120_ENST00000536628.2_Missense_Mutation_p.P63T|CCDC120_ENST00000422185.2_Missense_Mutation_p.P75T	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	75							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCCACTAGAGCCTGGTGAACG	0.657													6	24					0.000157383	0.000307222	1	0	A	48921431	C	A	48921431	3	1	210	1	0	0	0	0	1	0	0	0	2781	739	26	4	233	4	CCDC120	23	48921431	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	95184	48921431	106349129	745	37981											
PPP1R3F	89801	broad.mit.edu	37	chrX	49142667	49142667	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacgggctgctgtggctgcGggtggggcagggggtggtgg	2	8	24	7	2	0	0	0	0	0	0	0	0	0	0	0	9	3	4	0	9	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:49142667G>C	ENST00000055335.6	+	4	1531	c.1515G>C	c.(1513-1515)gcG>gcC	p.A505A	PPP1R3F_ENST00000495799.1_Silent_p.A159A|PPP1R3F_ENST00000438316.1_Silent_p.A176A|PPP1R3F_ENST00000466508.1_Silent_p.A159A|PPP1R3F_ENST00000376188.1_Silent_p.A159A	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	505						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTGTGGCTGCGGGTGGGGCAG	0.657													7	18					0	0	0	0	C	49142667	G	C	49142667	2	2	210	1	0	0	0	0	0	0	0	1	12451	1103	39	3		3	PPP1R3F	23	49142667	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	221236	49142667	106127893	746	37982											
CCNB3	85417	broad.mit.edu	37	chrX	50089707	50089707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgatgataattatcaGcgatctgaggtactcagcat	12	13	9	7	1	4	3	2	3	2	0	4	4	4	3	0	1	3	2	0	1	3	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:50089707G>A	ENST00000376042.1	+	10	4009	c.3711G>A	c.(3709-3711)caG>caA	p.Q1237Q	CCNB3_ENST00000348603.2_Silent_p.Q133Q|CCNB3_ENST00000376038.1_Silent_p.Q133Q|CCNB3_ENST00000276014.7_Silent_p.Q1237Q			Q8WWL7	CCNB3_HUMAN	cyclin B3	1237					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATAATTATCAGCGATCTGAGG	0.473													23	75					0	0	0	0	A	50089707	G	A	50089707	2	1	210	1	0	0	0	0	0	0	0	1	2943	962	34	4		4	CCNB3	23	50089707	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	947040	50089707	105180853	747	37983											
SHROOM4	57477	broad.mit.edu	37	chrX	50376525	50376525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgggagtttctgactgaaGgggtgacatggaatgatatg	11	11	16	3	0	1	4	0	4	1	0	1	6	1	6	0	4	0	1	0	4	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:50376525G>T	ENST00000376020.2	-	4	2573	c.2548C>A	c.(2548-2550)Ctt>Att	p.L850I	SHROOM4_ENST00000460112.3_Missense_Mutation_p.L734I|SHROOM4_ENST00000289292.7_Missense_Mutation_p.L850I	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	850					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCTGACTGAAGGGGTGACATG	0.443													23	111					1.1804e-14	2.81207e-14	1	0	T	50376525	G	T	50376525	3	4	210	1	0	0	0	0	1	0	0	0	14384	1000	35	4	1957	4	SHROOM4	23	50376525	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	286818	50376525	104894035	748	37984											
GSPT2	23708	broad.mit.edu	37	chrX	51488376	51488376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatacttgtattgaggaaGttgagataacagcgttaatc	13	14	9	5	1	1	2	1	2	0	1	2	4	1	3	0	1	3	3	0	1	5	8			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:51488376G>T	ENST00000340438.4	+	1	1896	c.1654G>T	c.(1654-1656)Gtt>Ttt	p.V552F		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	552					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TATTGAGGAAGTTGAGATAAC	0.418													31	91					1.88708e-17	4.57024e-17	1	0	T	51488376	G	T	51488376	3	4	210	1	0	0	0	0	1	0	0	0	6877	1029	36	4	1656	4	GSPT2	23	51488376	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1111851	51488376	103782184	749	37985											
XAGE5	170627	broad.mit.edu	37	chrX	52844169	52844169	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtcaaagactggggatGaatgcggagatagtcctgat	12	9	13	7	1	2	4	2	2	0	2	3	6	3	5	1	3	1	0	1	3	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:52844169G>T	ENST00000351072.1	+	4	298	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	XAGE5_ENST00000375501.1_Nonsense_Mutation_p.E78*|XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000425386.1_Nonsense_Mutation_p.E78*			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	78										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						GACTGGGGATGAATGCGGAGA	0.428													6	52					0.00198382	0.00375531	1	0	T	52844169	G	T	52844169	4	4	210	1	0	0	0	0	0	1	0	0	17517	1291	45	2	242	2	XAGE5	23	52844169	Nonsense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1355793	52844169	102426391	750	37986											
HUWE1	10075	broad.mit.edu	37	chrX	53571657	53571657	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atggacatagaaggcagctgGagctcccggccacccaaagg	12	4	13	12	1	0	1	0	0	0	1	1	3	1	3	3	5	2	3	3	5	3	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:53571657G>C	ENST00000342160.3	-	71	11572	c.11115C>G	c.(11113-11115)ctC>ctG	p.L3705L	HUWE1_ENST00000262854.6_Silent_p.L3705L|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3705					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAGGCAGCTGGAGCTCCCGGC	0.522													5	93					0	0	0	0	C	53571657	G	C	53571657	2	2	210	1	0	0	0	0	0	0	0	1	7514	1161	41	2		2	HUWE1	23	53571657	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	727488	53571657	101698903	751	37987											
FGD1	2245	broad.mit.edu	37	chrX	54472808	54472808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcctcgggcggtcccacctCgaagccaatgaggggcaggc	7	5	15	14	3	0	1	0	1	0	0	3	2	1	1	4	5	2	1	4	5	2	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:54472808C>G	ENST00000375135.3	-	18	3353	c.2620G>C	c.(2620-2622)Gag>Cag	p.E874Q		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	874	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGTCCCACCTCGAAGCCAATG	0.652													4	40					0	0	0	0	G	54472808	C	G	54472808	3	3	210	1	0	0	0	0	1	0	0	0	5877	893	31	3	269	3	FGD1	23	54472808	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	901151	54472808	100797752	752	37988											
PAGE5	90737	broad.mit.edu	37	chrX	55248198	55248198	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacacacacttacacccttAggtccagcagcccactgagg	11	6	8	16	0	0	1	0	1	0	0	1	1	1	1	3	2	3	2	3	2	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:55248198A>C	ENST00000289619.5	+	3	386		c.e3-1		PAGE5_ENST00000374952.1_Splice_Site|PAGE5_ENST00000374955.3_Splice_Site	NM_130467.3	NP_569734.2	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 (prostate associated)											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TTACACCCTTAGGTCCAGCAG	0.393													7	11					0	0	0	0	C	55248198	A	C	55248198	5	2	210	1	0	0	0	0	0	0	1	0	11464	434	15	5	150	5	PAGE5	23	55248198	Splice_Site	SNP	A	TCGA-CR-7388-01A-11D-2012-08	775390	55248198	100022362	753	37989											
DLG3	1741	broad.mit.edu	37	chrX	69719860	69719860	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttaatgataacctctaTgggaccagcatccagtcagt	13	11	7	10	0	2	1	1	1	1	0	3	2	3	2	3	1	2	1	3	1	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:69719860T>C	ENST00000194900.4	+	18	2543	c.2202T>C	c.(2200-2202)taT>taC	p.Y734Y	DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000542398.1_Silent_p.Y251Y|DLG3_ENST00000374355.3_Silent_p.Y397Y|DLG3_ENST00000374360.3_Silent_p.Y702Y			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	702	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					ATAACCTCTATGGGACCAGCA	0.498													8	42					0	0	0	0	C	69719860	T	C	69719860	2	2	210	1	0	0	0	0	0	0	0	1	4593	1471	51	5		5	DLG3	23	69719860	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	14471662	69719860	85550700	754	37990											
OGT	8473	broad.mit.edu	37	chrX	70776893	70776893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccttgcagtgttatacgCgtgccatccaaattaatcct	10	12	8	11	2	0	0	0	0	0	0	2	1	2	0	4	0	4	2	4	0	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:70776893C>G	ENST00000373719.3	+	10	1475	c.1258C>G	c.(1258-1260)Cgt>Ggt	p.R420G	OGT_ENST00000373701.3_Missense_Mutation_p.R410G	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	420					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GTGTTATACGCGTGCCATCCA	0.408													4	46					0	0	0	0	G	70776893	C	G	70776893	3	3	210	1	0	0	0	0	1	0	0	0	10918	768	27	3	1296	3	OGT	23	70776893	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1057033	70776893	84493667	755	37991											
NHSL2	340527	broad.mit.edu	37	chrX	71359607	71359607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaccctgggccacttacccCctccaagcagcagtgtccgg	7	7	10	17	1	0	1	0	1	0	0	2	1	2	1	6	2	3	2	6	2	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:71359607C>A	ENST00000373677.1	+	2	2373	c.1111C>A	c.(1111-1113)Cct>Act	p.P371T	NHSL2_ENST00000535692.1_Missense_Mutation_p.P371T|NHSL2_ENST00000540800.1_Missense_Mutation_p.P737T|NHSL2_ENST00000510661.1_Missense_Mutation_p.P506T			F5H593	F5H593_HUMAN	NHS-like 2	737										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCACTTACCCCCTCCAAGCAG	0.577													6	63					8.12818e-05	0.000160275	1	0	A	71359607	C	A	71359607	3	1	210	1	0	0	0	0	1	0	0	0	10482	623	22	4	2231	4	NHSL2	23	71359607	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	582714	71359607	83910953	756	37992											
RLIM	51132	broad.mit.edu	37	chrX	73812474	73812474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaggtgacctacttctttCagctcttgctctggttctcc	5	15	8	13	0	5	2	1	1	4	1	6	2	5	2	2	2	3	3	2	2	1	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:73812474C>T	ENST00000332687.6	-	4	894	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	RLIM_ENST00000349225.2_Missense_Mutation_p.E226K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	226					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTACTTCTTTCAGCTCTTGCT	0.468													13	122					0	0	0	0	T	73812474	C	T	73812474	3	4	210	1	0	0	0	0	1	0	0	0	13475	835	29	2	1202	2	RLIM	23	73812474	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2452867	73812474	81458086	757	37993											
ATRX	546	broad.mit.edu	37	chrX	76854951	76854951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccttcaccacctccccgaGatcttgaattccagacctta	9	12	4	16	1	2	3	1	1	1	2	5	4	5	3	7	0	0	0	7	0	2	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:76854951G>A	ENST00000373344.5	-	25	6099	c.5885C>T	c.(5884-5886)tCt>tTt	p.S1962F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1924F	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1962					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACCTCCCCGAGATCTTGAATT	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						39	425					0	0	0	0	A	76854951	G	A	76854951	3	1	210	1	0	0	0	0	1	0	0	0	1212	942	33	2	1637	2	ATRX	23	76854951	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3042477	76854951	78415609	758	37994											
ATRX	546	broad.mit.edu	37	chrX	76938634	76938634	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggattatctatagcactgTcagaagaattacgcttatcc	13	13	7	8	1	2	2	1	0	1	2	3	3	3	3	1	1	2	2	1	1	8	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:76938634T>C	ENST00000373344.5	-	9	2328	c.2114A>G	c.(2113-2115)gAc>gGc	p.D705G	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D667G	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	705					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TATAGCACTGTCAGAAGAATT	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						33	258					0	0	0	0	C	76938634	T	C	76938634	3	2	210	1	0	0	0	0	1	0	0	0	1212	1667	58	5	5472	5	ATRX	23	76938634	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	83683	76938634	78331926	759	37995											
ATP7A	538	broad.mit.edu	37	chrX	77271303	77271303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggagatatcattaaagtaGttccaggaggcaaatttcca	14	11	10	6	0	1	1	1	0	0	1	3	3	3	2	2	3	0	3	2	3	5	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:77271303G>T	ENST00000341514.6	+	12	2706	c.2551G>T	c.(2551-2553)Gtt>Ttt	p.V851F	ATP7A_ENST00000343533.5_Missense_Mutation_p.V773F|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	851					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CATTAAAGTAGTTCCAGGAGG	0.393													13	159					9.31168e-06	1.8915e-05	1	0	T	77271303	G	T	77271303	3	4	210	1	0	0	0	0	1	0	0	0	1194	1029	36	4	2593	4	ATP7A	23	77271303	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	332669	77271303	77999257	760	37996											
LPAR4	2846	broad.mit.edu	37	chrX	78010699	78010699	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttttggtgacaccctctgCaagatctctggaactgcatt	8	13	8	12	0	2	2	0	1	2	1	3	3	2	3	2	2	3	2	2	2	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:78010699C>A	ENST00000435339.2	+	2	738	c.333C>A	c.(331-333)tgC>tgA	p.C111*	LPAR4_ENST00000373301.2_Nonsense_Mutation_p.C111*	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	111						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ACACCCTCTGCAAGATCTCTG	0.428													34	109					9.78485e-24	2.41314e-23	1	0	A	78010699	C	A	78010699	4	1	210	1	0	0	0	0	0	1	0	0	8971	718	25	4	335	4	LPAR4	23	78010699	Nonsense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	739396	78010699	77259861	761	37997											
P2RY10	27334	broad.mit.edu	37	chrX	78216597	78216597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagcaaatgaatgcagttGcgttggtcgggatgattaca	13	10	12	6	2	0	2	0	2	0	0	1	3	0	3	0	2	4	4	0	2	4	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:78216597G>T	ENST00000171757.2	+	4	860	c.580G>T	c.(580-582)Gcg>Tcg	p.A194S	P2RY10_ENST00000544091.1_Missense_Mutation_p.A194S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	194						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A194T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GAATGCAGTTGCGTTGGTCGG	0.458													6	66					1.06961e-07	2.27017e-07	1	0	T	78216597	G	T	78216597	3	4	210	1	0	0	0	0	1	0	0	0	11418	1319	46	4	582	4	P2RY10	23	78216597	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	205898	78216597	77053963	762	37998											
POU3F4	5456	broad.mit.edu	37	chrX	82763401	82763401	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagtccatgcggactctgcGggcatgcagcaggggagtcc	7	7	15	12	2	1	0	0	0	1	0	3	2	3	2	2	4	4	3	2	4	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:82763401G>A	ENST00000373200.2	+	1	133	c.69G>A	c.(67-69)gcG>gcA	p.A23A	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	23					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CGGACTCTGCGGGCATGCAGC	0.552													5	34					0	0	0	0	A	82763401	G	A	82763401	2	1	210	1	0	0	0	0	0	0	0	1	12348	1103	39	1		1	POU3F4	23	82763401	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	4546804	82763401	72507159	763	37999											
SATL1	340562	broad.mit.edu	37	chrX	84362472	84362472	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactcaggcctggttggctCagcactaattggttcaggtc	7	12	12	10	0	3	1	3	1	0	0	4	1	3	1	1	5	1	4	1	5	1	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:84362472C>T	ENST00000509231.1	-	1	1582	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	SATL1_ENST00000332921.5_Silent_p.L314L|SATL1_ENST00000395409.3_Silent_p.L314L			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	314	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGGTTGGCTCAGCACTAATT	0.547													9	81					0	0	0	0	T	84362472	C	T	84362472	2	4	210	1	0	0	0	0	0	0	0	1	13941	813	29	2		2	SATL1	23	84362472	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1599071	84362472	70908088	764	38000											
PCDH11X	27328	broad.mit.edu	37	chrX	91134149	91134149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagaactgcctctcgataaCacctttgtggcctgtgactc	9	11	8	13	1	1	2	0	1	1	1	3	3	1	2	3	1	3	0	3	1	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:91134149C>A	ENST00000373094.1	+	2	3755	c.2910C>A	c.(2908-2910)aaC>aaA	p.N970K	PCDH11X_ENST00000504220.1_Missense_Mutation_p.N970K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N970K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N970K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N970K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N970K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N970K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N970K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N970K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	970					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTCTCGATAACACCTTTGTGG	0.502													50	154					4.86159e-25	1.20747e-24	1	0	A	91134149	C	A	91134149	3	1	210	1	0	0	0	0	1	0	0	0	11579	477	17	4	2916	4	PCDH11X	23	91134149	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	6771677	91134149	64136411	765	38001											
BTK	695	broad.mit.edu	37	chrX	100608907	100608907	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttgctatacatcaggacTtccggtggggaccaccggac	10	8	11	12	2	1	0	1	0	0	0	2	3	2	3	3	5	3	1	3	5	3	4	rs146681416	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:100608907T>A	ENST00000308731.7	-	17	1864	c.1701A>T	c.(1699-1701)gaA>gaT	p.E567D	BTK_ENST00000372880.1_Missense_Mutation_p.E391D	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	567	Protein kinase.		E -> K (in XLA; severe).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACATCAGGACTTCCGGTGGGG	0.443									Agammaglobulinemia, X-linked				6	93					0	0	0	0	A	100608907	T	A	100608907	3	1	210	1	0	0	0	0	1	0	0	0	1566	1606	56	5	290	5	BTK	23	100608907	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	9474758	100608907	54661653	766	38002											
TCEAL2	140597	broad.mit.edu	37	chrX	101381993	101381993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaaggataaagaaaagcCagagagtgcgggaaaggcaa	19	4	14	4	1	0	2	0	0	0	2	0	5	0	4	1	3	2	2	1	3	8	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:101381993C>T	ENST00000372780.1	+	3	410	c.191C>T	c.(190-192)cCa>cTa	p.P64L	TCEAL2_ENST00000329035.2_Missense_Mutation_p.P64L	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AAAGAAAAGCCagagagtgcg	0.468													8	16					0	0	0	0	T	101381993	C	T	101381993	3	4	210	1	0	0	0	0	1	0	0	0	15765	594	21	4	193	4	TCEAL2	23	101381993	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	773086	101381993	53888567	767	38003											
ARMCX5	64860	broad.mit.edu	37	chrX	101857875	101857875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttgaccaagatcccacCttatcatgggccttattacc	10	12	5	14	0	1	2	1	1	0	1	2	2	2	2	6	1	1	0	6	1	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:101857875C>T	ENST00000604957.1	+	1	3428	c.806C>T	c.(805-807)cCt>cTt	p.P269L	ARMCX5_ENST00000372742.1_Missense_Mutation_p.P269L|ARMCX5_ENST00000541409.1_Missense_Mutation_p.P269L|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.P269L|ARMCX5_ENST00000536530.1_Missense_Mutation_p.P269L|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.P269L	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	269							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AAGATCCCACCTTATCATGGG	0.488													10	119					0	0	0	0	T	101857875	C	T	101857875	3	4	210	1	0	0	0	0	1	0	0	0	966	681	24	4	808	4	ARMCX5	23	101857875	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	475882	101857875	53412685	768	38004											
GPRASP1	9737	broad.mit.edu	37	chrX	101910570	101910570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggccaggagctgaagaaGagacaatattcgggtcctgg	12	6	14	9	1	0	3	0	1	0	2	2	5	1	4	3	4	1	1	3	4	4	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:101910570G>A	ENST00000537097.1	+	6	2542	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	GPRASP1_ENST00000444152.1_Missense_Mutation_p.E577K|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E577K|GPRASP1_ENST00000361600.5_Missense_Mutation_p.E577K|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	577	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGCTGAAGAAGAGACAATATT	0.507													22	157					0	0	0	0	A	101910570	G	A	101910570	3	1	210	1	0	0	0	0	1	0	0	0	6772	943	33	2	1731	2	GPRASP1	23	101910570	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	52695	101910570	53359990	769	38005											
RAB40AL	282808	broad.mit.edu	37	chrX	102192824	102192824	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaggtactgagcttgcAagacctctgctgccgcacca	10	7	11	13	1	1	2	0	1	1	1	1	3	1	2	3	1	6	6	3	1	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:102192824A>G	ENST00000218249.5	+	1	625	c.578A>G	c.(577-579)cAa>cGa	p.Q193R	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	193	SOCS box.				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						CTGAGCTTGCAAGACCTCTGC	0.567													21	46					0	0	0	0	G	102192824	A	G	102192824	3	3	210	1	0	0	0	0	1	0	0	0	13022	130	5	5	580	5	RAB40AL	23	102192824	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	282254	102192824	53077736	770	38006											
NGFRAP1	27018	broad.mit.edu	37	chrX	102632528	102632528	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcctgcaggaaatcgaCggggacaggctcgccgactt	10	5	13	13	4	0	0	0	0	0	0	2	4	0	2	3	4	2	2	3	4	1	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:102632528C>A	ENST00000361298.4	+	3	444	c.79C>A	c.(79-81)Cgg>Agg	p.R27R	NGFRAP1_ENST00000372645.3_Silent_p.R37R|NGFRAP1_ENST00000299872.7_Silent_p.R37R|NGFRAP1_ENST00000372635.1_Silent_p.R37R|NGFRAP1_ENST00000372634.1_Silent_p.R27R	NM_206915.1|NM_206917.1	NP_996798.1|NP_996800.1	Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	37					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AGGAAATCGACGGGGACAGGC	0.522													14	193					1.05317e-09	2.33726e-09	1	0	A	102632528	C	A	102632528	2	1	210	1	0	0	0	0	0	0	0	1	10467	527	19	3		3	NGFRAP1	23	102632528	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	439704	102632528	52638032	771	38007											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011308	105011308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcggtgccatgttctggactCcgcagaacaaggactttttg	8	12	11	10	2	1	1	0	0	1	1	3	3	2	3	2	3	2	2	2	3	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:105011308C>G	ENST00000372582.1	+	11	2471	c.1715C>G	c.(1714-1716)tCc>tGc	p.S572C	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.S572C|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.S177C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	572					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTTCTGGACTCCGCAGAACAA	0.438													12	101					0	0	0	0	G	105011308	C	G	105011308	3	3	210	1	0	0	0	0	1	0	0	0	7715	855	30	2	1753	2	IL1RAPL2	23	105011308	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	2378780	105011308	50259252	772	38008											
MID2	11043	broad.mit.edu	37	chrX	107148729	107148729	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatgaaactgagaaagttgGcacagcaggttgctaattgc	13	11	11	6	0	0	2	0	2	0	1	0	3	0	2	0	2	4	5	0	2	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:107148729G>C	ENST00000262843.6	+	5	1494	c.946G>C	c.(946-948)Gca>Cca	p.A316P	MID2_ENST00000443968.2_Missense_Mutation_p.A316P|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	316						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GAGAAAGTTGGCACAGCAGGT	0.373													7	111					0	0	0	0	C	107148729	G	C	107148729	3	2	210	1	0	0	0	0	1	0	0	0	9647	1203	42	4	964	4	MID2	23	107148729	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2137421	107148729	48121831	773	38009											
COL4A5	1287	broad.mit.edu	37	chrX	107868952	107868952	+	Frame_Shift_Del	DEL	G	G	-																															taggtcccaaaggtaaccctGgtctccctggacagccaggt																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:107868952delG	ENST00000328300.6	+	35	3278	c.3034delG	c.(3034-3036)gtfs	p.G1012fs	COL4A5_ENST00000361603.2_Frame_Shift_Del_p.G1012fs	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1012	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGTAACCCTGGTCTCCCTGG	0.413									Alport syndrome with Diffuse Leiomyomatosis				7	58	---	---	---	---					-	107868952	G	-	107868952	7	5	210	1	0	1	0	1	0	0	0	0	3724	1348	47	0	3172	0	COL4A5	23	107868952	Frame_Shift_Del	DEL	G	TCGA-CR-7388-01A-11D-2012-08	720223	107868952	47401608	774	38010											
IRS4	8471	broad.mit.edu	37	chrX	107977922	107977922	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccgtgcccacctgcggtGccctggccatctctagagca	7	7	11	16	2	1	1	0	0	1	1	2	2	1	1	5	2	5	1	5	2	2	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:107977922G>T	ENST00000372129.2	-	1	1729	c.1653C>A	c.(1651-1653)ggC>ggA	p.G551G		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	551						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CACCTGCGGTGCCCTGGCCAT	0.642													15	164					0.00244969	0.0046322	1	0	T	107977922	G	T	107977922	2	4	210	1	0	0	0	0	0	0	0	1	7895	1306	46	4		4	IRS4	23	107977922	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	108970	107977922	47292638	775	38011											
IRS4	8471	broad.mit.edu	37	chrX	107978169	107978169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggggattgccttcctccCcaaagttgccagagccagaa	9	8	10	14	0	0	2	0	0	0	2	2	3	2	3	7	2	3	1	7	2	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:107978169C>A	ENST00000372129.2	-	1	1482	c.1406G>T	c.(1405-1407)gGg>gTg	p.G469V		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	469						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCCTTCCTCCCCAAAGTTGCC	0.582													14	119					1.5842e-08	3.41618e-08	1	0	A	107978169	C	A	107978169	3	1	210	1	0	0	0	0	1	0	0	0	7895	623	22	4	2371	4	IRS4	23	107978169	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	247	107978169	47292391	776	38012											
ACSL4	2182	broad.mit.edu	37	chrX	108921236	108921236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcagagagtgtaagcGgagaagaatatccaatcctg	13	8	12	8	1	1	3	1	0	0	3	3	5	3	3	3	2	1	1	3	2	5	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:108921236G>A	ENST00000340800.2	-	9	1538	c.1034C>T	c.(1033-1035)cCg>cTg	p.P345L	ACSL4_ENST00000469796.2_Missense_Mutation_p.P345L|ACSL4_ENST00000348502.6_Missense_Mutation_p.P304L	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	345					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GAGTGTAAGCGGAGAAGAATA	0.428													6	67					0	0	0	0	A	108921236	G	A	108921236	3	1	210	1	0	0	0	0	1	0	0	0	179	1116	39	1	1137	1	ACSL4	23	108921236	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	943067	108921236	46349324	777	38013											
AMOT	154796	broad.mit.edu	37	chrX	112025794	112025794	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccatgtcaaggcaacgcttAttggccatcaagatttcttc	10	13	7	11	1	3	1	2	0	1	1	5	1	4	1	2	2	1	2	2	2	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:112025794A>G	ENST00000371959.3	-	8	2213	c.2214T>C	c.(2212-2214)aaT>aaC	p.N738N	AMOT_ENST00000304758.1_Silent_p.N329N|AMOT_ENST00000524145.1_Silent_p.N738N|AMOT_ENST00000371958.1_Silent_p.N506N|AMOT_ENST00000371962.1_Silent_p.N506N	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	738					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGCAACGCTTATTGGCCATCA	0.463													5	64					0	0	0	0	G	112025794	A	G	112025794	2	3	210	1	0	0	0	0	0	0	0	1	582	446	16	5		5	AMOT	23	112025794	Silent	SNP	A	TCGA-CR-7388-01A-11D-2012-08	3104558	112025794	43244766	778	38014											
AKAP14	158798	broad.mit.edu	37	chrX	119054534	119054534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgatgccaaatatagtttCatggagtcattccccttctt	10	15	6	10	0	3	1	2	1	1	0	4	2	4	2	3	1	1	1	3	1	3	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:119054534C>T	ENST00000371431.3	+	7	832	c.558C>T	c.(556-558)ttC>ttT	p.F186F	AKAP14_ENST00000371423.2_Silent_p.F127F|AKAP14_ENST00000491105.1_3'UTR|AKAP14_ENST00000334356.2_Silent_p.F126F|AKAP14_ENST00000371425.4_Silent_p.F126F	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	186						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AATATAGTTTCATGGAGTCAT	0.353													9	53					0	0	0	0	T	119054534	C	T	119054534	2	4	210	1	0	0	0	0	0	0	0	1	450	825	29	2		2	AKAP14	23	119054534	Silent	SNP	C	TCGA-CR-7388-01A-11D-2012-08	7028740	119054534	36216026	779	38015											
GLUD2	2747	broad.mit.edu	37	chrX	120183197	120183197	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagtgtacagtgaagcTggtgtgaccttcacatagat	12	12	10	7	0	2	3	2	2	0	1	2	3	2	3	1	1	2	2	1	1	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:120183197T>C	ENST00000328078.1	+	1	1736	c.1659T>C	c.(1657-1659)gcT>gcC	p.A553A		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	553					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACAGTGAAGCTGGTGTGACCT	0.433													20	108					0	0	0	0	C	120183197	T	C	120183197	2	2	210	1	0	0	0	0	0	0	0	1	6528	1567	55	5		5	GLUD2	23	120183197	Silent	SNP	T	TCGA-CR-7388-01A-11D-2012-08	1128663	120183197	35087363	780	38016											
SH2D1A	4068	broad.mit.edu	37	chrX	123504074	123504074	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggaaaataaaaaatctcAtttcagcatttcagaagcca	17	10	5	9	1	3	1	3	0	1	1	5	2	4	2	2	1	2	1	2	1	6	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:123504074A>T	ENST00000371139.4	+	3	549	c.250A>T	c.(250-252)Att>Ttt	p.I84F	SH2D1A_ENST00000470647.1_3'UTR|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000360027.4_Missense_Mutation_p.I84F	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	84	SH2.		I -> T (in XLP1; reduced protein stability).		cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AAAAAATCTCATTTCAGCATT	0.368													15	107					0	0	0	0	T	123504074	A	T	123504074	3	4	210	1	0	0	0	0	1	0	0	0	14317	217	8	5	260	5	SH2D1A	23	123504074	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	3320877	123504074	31766486	781	38017											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299012	125299012	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagggcagcctgatggacAggagcctggatagtgtgctc	9	8	16	8	0	0	1	0	1	0	0	1	4	0	4	2	4	3	3	2	4	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:125299012A>T	ENST00000538699.1	-	2	976	c.896T>A	c.(895-897)cTg>cAg	p.L299Q	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.L299Q	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	299										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTGATGGACAGGAGCCTGGA	0.612													22	107					0	0	0	0	T	125299012	A	T	125299012	3	4	210	1	0	0	0	0	1	0	0	0	4298	188	7	5	499	5	DCAF12L2	23	125299012	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	1794938	125299012	29971548	782	38018											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685234	125685234	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcatagttcccatggaggCctgcagggagaggcccccca	8	6	13	14	0	0	1	0	0	0	1	1	3	1	2	5	4	2	3	5	4	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:125685234C>A	ENST00000371126.1	-	1	1600	c.1358G>T	c.(1357-1359)gGc>gTc	p.G453V		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	453										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCCATGGAGGCCTGCAGGGAG	0.557													5	104					5.9392e-07	1.24248e-06	1	0	A	125685234	C	A	125685234	3	1	210	1	0	0	0	0	1	0	0	0	4297	739	26	4	37	4	DCAF12L1	23	125685234	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	386222	125685234	29585326	783	38019											
ACTRT1	139741	broad.mit.edu	37	chrX	127185739	127185739	+	Frame_Shift_Del	DEL	G	G	-																															accaccaggcctgtgacacaGgcagaggcatagagcgctgc																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:127185739delG	ENST00000371124.3	-	1	643	c.447delC	c.(445-447)gcfs	p.A149fs		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	149						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTGTGACACAGGCAGAGGCAT	0.527													10	203	---	---	---	---					-	127185739	G	-	127185739	7	5	210	1	0	1	0	1	0	0	0	0	218	987	35	0	687	0	ACTRT1	23	127185739	Frame_Shift_Del	DEL	G	TCGA-CR-7388-01A-11D-2012-08	1500505	127185739	28084821	784	38020											
ENOX2	10495	broad.mit.edu	37	chrX	129759343	129759343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccatctcttttccaggctgGctccaactccagtcatttcc	6	14	5	16	0	2	0	1	0	1	0	8	0	7	0	5	2	1	2	5	2	1	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:129759343G>T	ENST00000338144.3	-	16	2195	c.1778C>A	c.(1777-1779)gCc>gAc	p.A593D	ENOX2_ENST00000370935.1_Missense_Mutation_p.A564D|ENOX2_ENST00000394363.1_Missense_Mutation_p.A564D|ENOX2_ENST00000370927.1_Missense_Mutation_p.A593D	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	593					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTCCAGGCTGGCTCCAACTCC	0.478													6	76					2.7689e-08	5.94888e-08	1	0	T	129759343	G	T	129759343	3	4	210	1	0	0	0	0	1	0	0	0	5165	1203	42	4	58	4	ENOX2	23	129759343	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	2573604	129759343	25511217	785	38021											
IGSF1	3547	broad.mit.edu	37	chrX	130416528	130416528	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtaggttacattgttgAggaagaatgatgtgttgtca	11	14	12	4	0	1	3	1	2	0	1	1	4	1	4	0	2	1	4	0	2	4	5			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:130416528A>T	ENST00000370904.1	-	13	2019	c.1109T>A	c.(1108-1110)cTc>cAc	p.L370H	IGSF1_ENST00000370903.3_Missense_Mutation_p.L379H|IGSF1_ENST00000370910.1_Missense_Mutation_p.L370H|IGSF1_ENST00000361420.3_Missense_Mutation_p.L379H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	379	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TACATTGTTGAGGAAGAATGA	0.453													12	48					0	0	0	0	T	130416528	A	T	130416528	3	4	210	1	0	0	0	0	1	0	0	0	7649	304	11	5	2945	5	IGSF1	23	130416528	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	657185	130416528	24854032	786	38022											
IGSF1	3547	broad.mit.edu	37	chrX	130417184	130417184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgagattcaggctttctCcaggtgccatgatgggccca	8	10	11	12	0	2	2	1	2	1	1	3	3	2	2	4	3	1	1	4	3	0	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:130417184C>A	ENST00000370904.1	-	12	1605	c.695G>T	c.(694-696)gGa>gTa	p.G232V	IGSF1_ENST00000370903.3_Missense_Mutation_p.G241V|IGSF1_ENST00000370910.1_Missense_Mutation_p.G232V|IGSF1_ENST00000361420.3_Missense_Mutation_p.G241V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	241	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAGGCTTTCTCCAGGTGCCAT	0.478													17	52					1.99824e-07	4.22064e-07	1	0	A	130417184	C	A	130417184	3	1	210	1	0	0	0	0	1	0	0	0	7649	855	30	2	3363	2	IGSF1	23	130417184	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	656	130417184	24853376	787	38023											
FRMD7	90167	broad.mit.edu	37	chrX	131228105	131228105	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataccatcaacgctgtacagTtgtcactgcatggaagcctt	11	11	8	11	1	2	0	2	0	0	0	2	1	2	1	2	1	5	4	2	1	4	4			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:131228105T>C	ENST00000298542.4	-	5	522	c.347A>G	c.(346-348)aAc>aGc	p.N116S	FRMD7_ENST00000464296.1_Missense_Mutation_p.N101S|FRMD7_ENST00000370879.1_5'UTR	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	116	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CGCTGTACAGTTGTCACTGCA	0.423													13	126					0	0	0	0	C	131228105	T	C	131228105	3	2	210	1	0	0	0	0	1	0	0	0	6103	1725	60	5	1829	5	FRMD7	23	131228105	Missense_Mutation	SNP	T	TCGA-CR-7388-01A-11D-2012-08	810921	131228105	24042455	788	38024											
USP26	83844	broad.mit.edu	37	chrX	132162111	132162111	+	Frame_Shift_Del	DEL	T	T	-																															cttagccgaaaagtgctataTtttccacttttgaaatacag																										TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:132162111delT	ENST00000511190.1	-	6	607	c.138delA	c.(136-138)aafs	p.K46fs	USP26_ENST00000406273.1_Frame_Shift_Del_p.K46fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.K46fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	46					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAGTGCTATATTTTCCACTTT	0.333													21	58	---	---	---	---					-	132162111	T	-	132162111	7	5	210	1	0	1	0	1	0	0	0	0	17153	1490	52	0	2606	0	USP26	23	132162111	Frame_Shift_Del	DEL	T	TCGA-CR-7388-01A-11D-2012-08	934006	132162111	23108449	789	38025											
FAM122C	159091	broad.mit.edu	37	chrX	133979247	133979247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttacaggaagaagccatgGatttaataaatagagaaaca	19	9	8	5	0	0	2	0	0	0	2	0	5	0	4	1	2	3	0	1	2	8	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:133979247G>A	ENST00000445123.1	+	6	1300	c.4G>A	c.(4-6)Gat>Aat	p.D2N	FAM122C_ENST00000370785.3_Missense_Mutation_p.D87N|FAM122C_ENST00000370784.4_Missense_Mutation_p.D87N			Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	87										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					AGAAGCCATGGATTTAATAAA	0.284													17	145					0	0	0	0	A	133979247	G	A	133979247	3	1	210	1	0	0	0	0	1	0	0	0	5462	1174	41	2	737	2	FAM122C	23	133979247	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1817136	133979247	21291313	790	38026											
DDX26B	203522	broad.mit.edu	37	chrX	134681181	134681181	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaccagatccacttcctAttggagaaggtatagtagat	13	10	10	8	0	0	3	0	0	0	3	2	5	2	4	3	3	0	2	3	3	5	6			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:134681181A>G	ENST00000370752.4	+	6	1067	c.733A>G	c.(733-735)Att>Gtt	p.I245V	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	245										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTTCCTATTGGAGAAGG	0.308													8	133					0	0	0	0	G	134681181	A	G	134681181	3	3	210	1	0	0	0	0	1	0	0	0	4385	449	16	5	755	5	DDX26B	23	134681181	Missense_Mutation	SNP	A	TCGA-CR-7388-01A-11D-2012-08	701934	134681181	20589379	791	38027											
RBMX	27316	broad.mit.edu	37	chrX	135961278	135961278	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttcacggtctttcatcaaGagtactaaaaagtagttttc	12	15	7	7	1	4	1	3	0	1	1	5	1	4	1	0	1	1	4	0	1	6	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:135961278G>A	ENST00000562646.1	-	3	268	c.114C>T	c.(112-114)ctC>ctT	p.L38L	RBMX_ENST00000565438.1_Intron|RBMX_ENST00000431446.3_Silent_p.L38L|RBMX_ENST00000320676.7_Silent_p.L38L|RBMX_ENST00000570135.1_5'UTR			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	38	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTTCATCAAGAGTACTAAAA	0.378													9	108					0	0	0	0	A	135961278	G	A	135961278	2	1	210	1	0	0	0	0	0	0	0	1	13233	929	33	2		2	RBMX	23	135961278	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1280097	135961278	19309282	792	38028											
SOX3	6658	broad.mit.edu	37	chrX	139586788	139586788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgcgggaccataccatGaaggcgttcatgggccgttt	7	9	13	12	4	1	1	1	1	0	0	1	2	1	2	4	3	2	2	4	3	2	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:139586788G>T	ENST00000370536.2	-	1	437	c.438C>A	c.(436-438)ttC>ttA	p.F146L		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	146					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					ACCATACCATGAAGGCGTTCA	0.662													18	34					0.00498961	0.00932423	1	0	T	139586788	G	T	139586788	3	4	210	1	0	0	0	0	1	0	0	0	15039	1281	45	2	906	2	SOX3	23	139586788	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	3625510	139586788	15683772	793	38029											
MAGEC3	139081	broad.mit.edu	37	chrX	140926157	140926157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcagtgatggcagtctagGccagtgggtgaaaaacacat	12	9	12	8	0	2	2	1	2	1	0	2	2	2	2	1	3	1	1	1	3	3	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:140926157G>T	ENST00000298296.1	+	1	56	c.56G>T	c.(55-57)gGc>gTc	p.G19V		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	19										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAGTCTAGGCCAGTGGGTG	0.542													18	63					4.96729e-08	1.05812e-07	1	0	T	140926157	G	T	140926157	3	4	210	1	0	0	0	0	1	0	0	0	9251	1203	42	4	58	4	MAGEC3	23	140926157	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	1339369	140926157	14344403	794	38030											
MAGEC1	9947	broad.mit.edu	37	chrX	140994191	140994191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtacttttgagggttttcCccagtctcttctccagattc	6	16	7	12	0	2	2	0	1	2	1	6	2	3	2	3	1	1	2	3	1	1	7			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:140994191C>A	ENST00000285879.4	+	4	1287	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	334							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGTTTTCCCCAGTCTCTT	0.463										HNSCC(15;0.026)			40	187					1.07121e-22	2.63439e-22	1	0	A	140994191	C	A	140994191	3	1	210	1	0	0	0	0	1	0	0	0	9249	623	22	4	1007	4	MAGEC1	23	140994191	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	68034	140994191	14276369	795	38031											
MAGEA3	4102	broad.mit.edu	37	chrX	151935815	151935815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacttgaggagcagaaaatGaaccaactcggccaccttcc	14	7	8	12	1	0	3	0	2	0	1	2	4	1	4	4	2	4	1	4	2	5	3			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:151935815G>T	ENST00000393902.3	-	3	919	c.352C>A	c.(352-354)Cat>Aat	p.H118N	MAGEA3_ENST00000370278.3_Missense_Mutation_p.H118N			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	118	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGAAAATGAACCAACTCG	0.537													8	149					5.4927e-09	1.19179e-08	1	0	T	151935815	G	T	151935815	3	4	210	1	0	0	0	0	1	0	0	0	9234	1290	45	2	596	2	MAGEA3	23	151935815	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	10941624	151935815	3334745	796	38032											
L1CAM	3897	broad.mit.edu	37	chrX	153132810	153132810	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggtgccaccctgactcaCctgcctcaggtgtgaccaca	7	8	11	15	0	2	2	2	2	0	0	2	2	2	2	5	2	2	0	5	2	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:153132810C>A	ENST00000370060.1	-	17	2327		c.e17+1		L1CAM_ENST00000361699.4_Splice_Site|L1CAM_ENST00000361981.3_Splice_Site|L1CAM_ENST00000370055.1_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site|L1CAM_ENST00000543994.1_Splice_Site|L1CAM_ENST00000538883.1_Splice_Site	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule						axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGACTCACCTGCCTCAGG	0.597													9	110					1.12685e-05	2.26795e-05	1	0	A	153132810	C	A	153132810	5	1	210	1	0	0	0	0	0	0	1	0	8641	521	18	4	1687	4	L1CAM	23	153132810	Splice_Site	SNP	C	TCGA-CR-7388-01A-11D-2012-08	1196995	153132810	2137750	797	38033											
L1CAM	3897	broad.mit.edu	37	chrX	153132824	153132824	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactcacctgcctcaggtgtGaccacagtctcagagaccgg	9	7	11	14	1	3	2	3	1	1	1	4	4	3	2	4	2	1	0	4	2	0	0			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:153132824G>C	ENST00000370060.1	-	17	2313	c.2124C>G	c.(2122-2124)gtC>gtG	p.V708V	L1CAM_ENST00000361699.4_Silent_p.V708V|L1CAM_ENST00000361981.3_Silent_p.V703V|L1CAM_ENST00000370055.1_Silent_p.V703V|L1CAM_ENST00000370057.3_Silent_p.V708V|L1CAM_ENST00000543994.1_Silent_p.V710V|L1CAM_ENST00000538883.1_Silent_p.V710V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	708					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGGTGTGACCACAGTCT	0.607													7	120					0	0	0	0	C	153132824	G	C	153132824	2	2	210	1	0	0	0	0	0	0	0	1	8641	1277	45	2		2	L1CAM	23	153132824	Silent	SNP	G	TCGA-CR-7388-01A-11D-2012-08	14	153132824	2137736	798	38034											
TKTL1	8277	broad.mit.edu	37	chrX	153539314	153539314	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtgaaccgcctgggaCacagtggtgcattgcccgcc	7	9	13	12	2	0	2	0	2	0	0	0	3	0	3	4	2	3	1	4	2	1	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:153539314C>G	ENST00000369915.3	+	4	667	c.478C>G	c.(478-480)Cac>Gac	p.H160D	TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Missense_Mutation_p.H104D	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	160					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGCCTGGGACACAGTGGTGC	0.512													7	75					0	0	0	0	G	153539314	C	G	153539314	3	3	210	1	0	0	0	0	1	0	0	0	16029	478	17	4	492	4	TKTL1	23	153539314	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	406490	153539314	1731246	799	38035											
TAZ	6901	broad.mit.edu	37	chrX	153648522	153648522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccctgctccaccccaCgtctggccttctgtccactg	3	10	9	19	1	2	0	0	0	2	0	4	0	4	0	6	2	2	2	6	2	0	1			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:153648522C>A	ENST00000369776.4	+	5	613	c.528C>A	c.(526-528)caC>caA	p.H176Q	TAZ_ENST00000498029.1_Intron|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000351413.4_Intron|TAZ_ENST00000350743.4_Intron|TAZ_ENST00000299328.5_Intron			Q16635	TAZ_HUMAN	tafazzin	215	Hydrophilic.				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCCACCCCACGTCTGGCCTT	0.642													11	221					0.00010058	0.000197439	1	0	A	153648522	C	A	153648522	3	1	210	1	0	0	0	0	1	0	0	0	15687	551	19	3		3	TAZ	23	153648522	Missense_Mutation	SNP	C	TCGA-CR-7388-01A-11D-2012-08	109208	153648522	1622038	800	38036											
DKC1	1736	broad.mit.edu	37	chrX	153997472	153997472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacaatgcatgatgtgcttGatgctcagtggctgtatgat	9	14	12	6	0	1	4	1	4	0	0	1	4	1	4	0	1	3	5	0	1	2	2			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:153997472G>A	ENST00000369550.5	+	9	1012	c.802G>A	c.(802-804)Gat>Aat	p.D268N	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	268					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGATGTGCTTGATGCTCAGTG	0.433									Congenital Dyskeratosis				10	140					0	0	0	0	A	153997472	G	A	153997472	3	1	210	1	0	0	0	0	1	0	0	0	4579	1290	45	2	836	2	DKC1	23	153997472	Missense_Mutation	SNP	G	TCGA-CR-7388-01A-11D-2012-08	348950	153997472	1273088	801	38037											
CA6	765	broad.mit.edu	37	chr1	9009363	9009363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggccacagcactaccccGcctgtgggggccagagacag	9	4	13	15	1	0	1	0	0	0	1	0	2	0	1	5	3	2	1	5	3	1	1			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:9009363G>A	ENST00000377443.2	+	2	125	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	CA6_ENST00000377442.2_Intron|CA6_ENST00000377436.3_Missense_Mutation_p.A41T|CA6_ENST00000319474.2_Missense_Mutation_p.A41T|CA6_ENST00000476083.1_Intron	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	41					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GCACTACCCCGCCTGTGGGGG	0.597													10	27					0	0	0	0	A	9009363	G	A	9009363	3	1	211	1	0	0	0	0	1	0	0	0	2546	1087	38	1	127	1	CA6	1	9009363	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08		9009363	240241258	1	38038											
GPR3	2827	broad.mit.edu	37	chr1	27721213	27721213	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccttccgcaaccaggatgTgcagaaagtgctgtgggctg	8	8	14	11	2	0	1	0	0	0	1	1	2	1	2	3	2	3	4	3	2	2	1			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:27721213T>C	ENST00000374024.3	+	2	1010	c.911T>C	c.(910-912)gTg>gCg	p.V304A		NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	304					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		AACCAGGATGTGCAGAAAGTG	0.547													16	226					0	0	0	0	C	27721213	T	C	27721213	3	2	211	1	0	0	0	0	1	0	0	0	6735	1696	59	5	913	5	GPR3	1	27721213	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	18711850	27721213	221529408	2	38039											
PTCH2	8643	broad.mit.edu	37	chr1	45293249	45293249	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctcgtacagggagaagtaCctgagctgggcgctcaggaa	11	6	14	10	2	1	2	1	1	0	1	2	4	1	3	2	3	3	4	2	3	4	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:45293249C>G	ENST00000447098.2	-	15	2207	c.2196G>C	c.(2194-2196)agG>agC	p.R732S	PTCH2_ENST00000372192.3_Missense_Mutation_p.R732S	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	732					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGGAGAAGTACCTGAGCTGGG	0.637									Basal Cell Nevus syndrome				9	63					0	0	0	0	G	45293249	C	G	45293249	3	3	211	1	0	0	0	0	1	0	0	0	12810	506	18	4	1467	4	PTCH2	1	45293249	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	17572036	45293249	203957372	3	38040											
CYP2J2	1573	broad.mit.edu	37	chr1	60377930	60377930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaagttccttagtgctgTcagagtgaaccttctttgct	9	14	8	10	0	2	2	1	1	1	1	3	2	3	2	3	0	3	3	3	0	3	4	rs55753213		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:60377930T>C	ENST00000371204.3	-	3	470	c.427A>G	c.(427-429)Aca>Gca	p.T143A	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	143			T -> A (in allele CYP2J2*2; significantly reduced metabolism of both arachidonic acid and linoleic acid; dbSNP:rs55753213).		epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					CTTAGTGCTGTCAGAGTGAAC	0.433													5	61					0	0	0	0	C	60377930	T	C	60377930	3	2	211	1	0	0	0	0	1	0	0	0	4204	1667	58	5	1109	5	CYP2J2	1	60377930	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	15084681	60377930	188872691	4	38041											
LRIG2	9860	broad.mit.edu	37	chr1	113636139	113636139	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacctcagctcaaatataatAtcagaaatcaagacatcttc	17	10	4	10	0	5	2	4	0	1	2	6	3	5	2	1	0	1	1	1	0	6	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:113636139A>T	ENST00000361127.4	+	4	666	c.468A>T	c.(466-468)atA>atT	p.I156I		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	156						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CAAATATAATATCAGAAATCA	0.358													7	31					0	0	0	0	T	113636139	A	T	113636139	2	4	211	1	0	0	0	0	0	0	0	1	9009	439	16	5		5	LRIG2	1	113636139	Silent	SNP	A	TCGA-CR-7389-01A-11D-2012-08	53258209	113636139	135614482	5	38042											
FLG	2312	broad.mit.edu	37	chr1	152282261	152282261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgactacagatgaatcttGtctgcgcccagtgcctgagt	8	11	10	12	2	2	3	0	2	2	1	3	4	3	3	3	0	3	0	3	0	2	2	rs145738429		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:152282261G>T	ENST00000368799.1	-	3	5136	c.5101C>A	c.(5101-5103)Caa>Aaa	p.Q1701K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1701	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGAATCTTGTCTGCGCCCA	0.562									Ichthyosis				16	439					6.31663e-08	2.3191e-07	1	0	T	152282261	G	T	152282261	3	4	211	1	0	0	0	0	1	0	0	0	5967	1386	48	4	7088	4	FLG	1	152282261	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	38646122	152282261	96968360	6	38043											
SPTA1	6708	broad.mit.edu	37	chr1	158639216	158639216	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgtaatcttcatcatcTgccaactttttcttcttgtt	7	20	3	11	0	6	0	2	0	4	0	6	0	6	0	2	0	2	2	2	0	2	8			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:158639216T>C	ENST00000368148.3	-	14	1995	c.1815A>G	c.(1813-1815)gcA>gcG	p.A605A	SPTA1_ENST00000368147.3_Silent_p.A605A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	605					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCATCATCTGCCAACTTTT	0.403													16	269					0	0	0	0	C	158639216	T	C	158639216	2	2	211	1	0	0	0	0	0	0	0	1	15206	1567	55	5		5	SPTA1	1	158639216	Silent	SNP	T	TCGA-CR-7389-01A-11D-2012-08	6356955	158639216	90611405	7	38044											
DARC	2532	broad.mit.edu	37	chr1	159175972	159175972	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggatgaatatcctgtgggCctggtttattttctggtggc	5	16	13	7	0	1	1	0	1	1	0	2	2	2	2	2	5	0	1	2	5	3	5			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:159175972C>A	ENST00000537147.1	+	3	1586	c.743C>A	c.(742-744)gCc>gAc	p.A248D	DARC_ENST00000368122.2_Missense_Mutation_p.A248D|DARC_ENST00000368121.2_Missense_Mutation_p.A250D			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	248					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					ATCCTGTGGGCCTGGTTTATT	0.537													16	134					2.23348e-06	8.14192e-06	1	0	A	159175972	C	A	159175972	3	1	211	1	0	0	0	0	1	0	0	0	4273	739	26	4	776	4	DARC	1	159175972	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	536756	159175972	90074649	8	38045											
SLC19A2	10560	broad.mit.edu	37	chr1	169439294	169439294	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggccctgtgtgtagttcAcaacttgaaaatagccacag	13	9	9	10	0	1	1	1	1	0	0	1	1	1	1	2	1	2	2	2	1	5	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:169439294A>G	ENST00000236137.5	-	3	1174	c.938T>C	c.(937-939)gTg>gCg	p.V313A	SLC19A2_ENST00000367804.3_Missense_Mutation_p.V112A|SLC19A2_ENST00000367802.3_Missense_Mutation_p.V275A	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	313					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					TGTGTAGTTCACAACTTGAAA	0.498													11	114					0	0	0	0	G	169439294	A	G	169439294	3	3	211	1	0	0	0	0	1	0	0	0	14517	159	6	5	571	5	SLC19A2	1	169439294	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08	10263322	169439294	79811327	9	38046											
KCTD3	51133	broad.mit.edu	37	chr1	215777531	215777531	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctctggagcagtacgagTgattgtacaacacccagaga	13	7	12	9	1	1	2	0	1	1	1	1	6	1	3	1	1	5	4	1	1	3	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:215777531T>G	ENST00000259154.4	+	13	1490	c.1196T>G	c.(1195-1197)gTg>gGg	p.V399G		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	399						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GCAGTACGAGTGATTGTACAA	0.453													5	68					0	0	0	0	G	215777531	T	G	215777531	3	3	211	1	0	0	0	0	1	0	0	0	8163	1696	59	5	1246	5	KCTD3	1	215777531	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	46338237	215777531	33473090	10	38047											
RYR2	6262	broad.mit.edu	37	chr1	237659885	237659885	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtactatgaattgatggTggaccacacagagccctttg	11	11	11	8	0	0	3	0	2	0	1	0	4	0	4	2	3	2	1	2	3	3	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:237659885T>C	ENST00000366574.2	+	20	2353	c.2036T>C	c.(2035-2037)gTg>gCg	p.V679A	RYR2_ENST00000542537.1_Missense_Mutation_p.V663A|RYR2_ENST00000360064.6_Missense_Mutation_p.V677A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	679	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAATTGATGGTGGACCACACA	0.493													4	79					0	0	0	0	C	237659885	T	C	237659885	3	2	211	1	0	0	0	0	1	0	0	0	13854	1696	59	5	2114	5	RYR2	1	237659885	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	21882354	237659885	11590736	11	38048											
RYR2	6262	broad.mit.edu	37	chr1	237993897	237993897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacatggctttgaaacccAcactttacaggagcacaact	13	8	7	13	0	0	1	0	1	0	0	0	2	0	2	2	2	4	2	2	2	3	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:237993897A>G	ENST00000366574.2	+	103	15040	c.14723A>G	c.(14722-14724)cAc>cGc	p.H4908R	RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.H4892R|RYR2_ENST00000360064.6_Missense_Mutation_p.H4914R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4908					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGAAACCCACACTTTACAG	0.463													13	134					0	0	0	0	G	237993897	A	G	237993897	3	3	211	1	0	0	0	0	1	0	0	0	13854	159	6	5	15133	5	RYR2	1	237993897	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08	334012	237993897	11256724	12	38049											
MOGS	7841	broad.mit.edu	37	chr2	74688529	74688529	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagcctggtactggcgcCatacattgcctaccacgttg	7	11	10	13	2	0	0	0	0	0	0	0	0	0	0	4	2	5	3	4	2	4	6			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:74688529C>T	ENST00000233616.4	-	4	2549	c.2387G>A	c.(2386-2388)tGg>tAg	p.W796*	MOGS_ENST00000452063.2_Nonsense_Mutation_p.W690*|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	796					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GTACTGGCGCCATACATTGCC	0.622													10	80					0	0	0	0	T	74688529	C	T	74688529	4	4	211	1	0	0	0	0	0	1	0	0	9767	595	21	4	130	4	MOGS	2	74688529	Nonsense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08		74688529	168510844	13	38050											
FER1L5	90342	broad.mit.edu	37	chr2	97369275	97369275	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagggcaaggtgaagatgAgcctggagattctgtcagag	11	8	15	7	0	2	5	1	2	1	3	2	6	2	5	2	3	1	1	2	3	3	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:97369275A>G	ENST00000457909.1	+	0	5210							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GGTGAAGATGAGCCTGGAGAT	0.572													12	32					0	0	0	0	G	97369275	A	G	97369275	1	3	211	0	1	0	0	0	0	0	0	0	5859	304	11	5		5	FER1L5	2	97369275	RNA	SNP	A	TCGA-CR-7389-01A-11D-2012-08	22680746	97369275	145830098	14	38051											
GPR39	2863	broad.mit.edu	37	chr2	133403103	133403103	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagtcattgagtctcgAgtcactagagcccaactcag	10	9	9	13	1	4	2	3	1	1	1	6	3	5	2	2	0	2	0	2	0	2	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:133403103A>T	ENST00000329321.3	+	2	1755	c.1286A>T	c.(1285-1287)gAg>gTg	p.E429V	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	429						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGAGTCTCGAGTCACTAGAG	0.522													15	62					0	0	0	0	T	133403103	A	T	133403103	3	4	211	1	0	0	0	0	1	0	0	0	6742	304	11	5	1292	5	GPR39	2	133403103	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08	36033828	133403103	109796270	15	38052											
TTN	7273	broad.mit.edu	37	chr2	179404536	179404536	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtgtgtttcagatgtTgcaatcatggcacgcttact	8	15	10	8	1	3	1	3	0	0	1	3	1	3	1	0	1	2	5	0	1	2	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:179404536T>C	ENST00000589042.1	-	352	98480	c.98256A>G	c.(98254-98256)gcA>gcG	p.A32752A	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.A23812A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.A23879A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.A23687A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.A31111A|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.A30184A|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31111	Ig-like 145.						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)			TTTCAGATGTTGCAATCATGG	0.443													4	72					0	0	0	0	C	179404536	T	C	179404536	2	2	211	1	0	0	0	0	0	0	0	1	16831	1799	63	5		5	TTN	2	179404536	Silent	SNP	T	TCGA-CR-7389-01A-11D-2012-08	46001433	179404536	63794837	16	38053											
SLC19A3	80704	broad.mit.edu	37	chr2	228552279	228552279	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttactgcaaaatagctcccaTaaactaaaaactggagaaaa	20	8	5	8	0	0	1	0	0	0	1	1	2	1	1	1	1	5	2	1	1	11	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:228552279T>C	ENST00000258403.3	-	6	1396	c.1325A>G	c.(1324-1326)tAt>tGt	p.Y442C	SLC19A3_ENST00000541617.1_Missense_Mutation_p.Y438C|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	442					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ATAGCTCCCATAAACTAAAAA	0.348													9	31					0	0	0	0	C	228552279	T	C	228552279	3	2	211	1	0	0	0	0	1	0	0	0	14518	1406	49	5	169	5	SLC19A3	2	228552279	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	49147743	228552279	14647094	17	38054											
PDCD1	5133	broad.mit.edu	37	chr2	242793393	242793393	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggtcttctctcgccactgGaaatccagctccccatagtc	7	10	9	15	1	2	0	0	0	2	0	7	1	4	1	4	3	1	1	4	3	2	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:242793393G>A	ENST00000334409.5	-	5	753	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	228					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		CTCGCCACTGGAAATCCAGCT	0.622													11	40					0	0	0	0	A	242793393	G	A	242793393	2	1	211	1	0	0	0	0	0	0	0	1	11686	1165	41	2		2	PDCD1	2	242793393	Silent	SNP	G	TCGA-CR-7389-01A-11D-2012-08	14241114	242793393	405980	18	38055											
ARPP21	10777	broad.mit.edu	37	chr3	35732405	35732405	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtatcagaggatgctTgtccatcgagtggcagctta	9	12	11	9	2	2	1	2	0	0	1	5	3	3	2	1	2	2	4	1	2	2	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:35732405T>A	ENST00000187397.4	+	9	1050	c.594T>A	c.(592-594)ctT>ctA	p.L198L	ARPP21_ENST00000417925.1_Silent_p.L198L|ARPP21_ENST00000444190.1_Silent_p.L198L|ARPP21_ENST00000458225.1_Silent_p.L198L|ARPP21_ENST00000337271.5_Silent_p.L198L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	198	R3H.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGAGGATGCTTGTCCATCGAG	0.383													7	54					0	0	0	0	A	35732405	T	A	35732405	2	1	211	1	0	0	0	0	0	0	0	1	982	1799	63	5		5	ARPP21	3	35732405	Silent	SNP	T	TCGA-CR-7389-01A-11D-2012-08		35732405	162290025	19	38056											
SCN11A	11280	broad.mit.edu	37	chr3	38936227	38936227	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggggaatgatgtcttTgctttgtgcagcacagcctc	8	11	12	10	0	1	1	0	1	1	0	2	3	1	2	2	2	4	3	2	2	1	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:38936227T>C	ENST00000450244.1	-	15	2830	c.2632A>G	c.(2632-2634)Aaa>Gaa	p.K878E	SCN11A_ENST00000456224.3_Missense_Mutation_p.K878E|SCN11A_ENST00000444237.2_Missense_Mutation_p.K878E|SCN11A_ENST00000302328.3_Missense_Mutation_p.K878E			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	878					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGATGTCTTTGCTTTGTGCA	0.502													14	83					0	0	0	0	C	38936227	T	C	38936227	3	2	211	1	0	0	0	0	1	0	0	0	14000	1821	63	5	2791	5	SCN11A	3	38936227	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	3203822	38936227	159086203	20	38057											
ROBO1	6091	broad.mit.edu	37	chr3	78700882	78700882	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttgggaaagctaatacCttttctgatacccgcgtagg	11	11	9	10	2	1	1	0	1	1	0	1	2	1	2	3	2	4	2	3	2	6	7			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:78700882C>T	ENST00000436010.2	-	17	3692	c.2695_splice	c.e17+1	p.V899_splice	ROBO1_ENST00000467549.1_Splice_Site_p.V902_splice|ROBO1_ENST00000495273.1_Splice_Site_p.V902_splice|ROBO1_ENST00000464233.1_Splice_Site_p.V938_splice			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	938					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AAGCTAATACCTTTTCTGATA	0.363													9	25					0	0	0	0	T	78700882	C	T	78700882	5	4	211	1	0	0	0	0	0	0	1	0	13598	695	24	4	2195	4	ROBO1	3	78700882	Splice_Site	SNP	C	TCGA-CR-7389-01A-11D-2012-08	39764655	78700882	119321548	21	38058											
ABI3BP	25890	broad.mit.edu	37	chr3	100489651	100489651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggggcacccttccacGgtgaccacagtgaggttggt	9	8	14	10	1	0	3	0	3	0	0	1	3	1	3	3	5	0	2	3	5	1	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:100489651G>A	ENST00000471714.1	-	61	4759	c.4650C>T	c.(4648-4650)acC>acT	p.T1550T	ABI3BP_ENST00000284322.5_Silent_p.T848T|ABI3BP_ENST00000383691.4_Silent_p.T802T			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	848						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACCCTTCCACGGTGACCACAG	0.537													18	139					0	0	0	0	A	100489651	G	A	100489651	2	1	211	1	0	0	0	0	0	0	0	1	91	1103	39	1		1	ABI3BP	3	100489651	Silent	SNP	G	TCGA-CR-7389-01A-11D-2012-08	21788769	100489651	97532779	22	38059											
TIGIT	201633	broad.mit.edu	37	chr3	114014456	114014456	+	Frame_Shift_Del	DEL	C	C	-																															gagaaaggtggctctatcatCttacaatgtcacctctcctc																										TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:114014456delC	ENST00000481065.1	+	3	2942	c.327delC	c.(325-327)atfs	p.I109fs	TIGIT_ENST00000383671.3_Frame_Shift_Del_p.I42fs|TIGIT_ENST00000486257.1_Frame_Shift_Del_p.I42fs			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	42	Ig-like V-type.				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GCTCTATCATCTTACAATGTC	0.522													54	142	---	---	---	---					-	114014456	C	-	114014456	7	5	211	1	0	1	0	1	0	0	0	0	15996	903	32	0	132	0	TIGIT	3	114014456	Frame_Shift_Del	DEL	C	TCGA-CR-7389-01A-11D-2012-08	13524805	114014456	84007974	23	38060											
SI	6476	broad.mit.edu	37	chr3	164758751	164758751	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaactggtcttgctacTgtttctccaaacacatgggc	10	12	9	10	0	2	2	0	1	2	1	3	2	2	2	1	2	4	2	1	2	4	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:164758751T>G	ENST00000264382.3	-	18	2198	c.2136A>C	c.(2134-2136)acA>acC	p.T712T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	712	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCTTGCTACTGTTTCTCCAA	0.338										HNSCC(35;0.089)			6	129					0	0	0	0	G	164758751	T	G	164758751	2	3	211	1	0	0	0	0	0	0	0	1	14385	1567	55	5		5	SI	3	164758751	Silent	SNP	T	TCGA-CR-7389-01A-11D-2012-08	50744295	164758751	33263679	24	38061											
IDUA	3425	broad.mit.edu	37	chr4	995285	995285	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggcgcatgtttccaagTggaacttcgagacgtggaat	10	10	13	8	3	0	1	0	0	0	1	2	5	1	3	1	3	1	2	1	3	3	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:995285T>C	ENST00000453894.1	+	4	470	c.382T>C	c.(382-384)Tgg>Cgg	p.W128R	IDUA_ENST00000247933.4_Missense_Mutation_p.W175R|IDUA_ENST00000514224.1_Missense_Mutation_p.W43R			P35475	IDUA_HUMAN	iduronidase, alpha-L-	175					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TGTTTCCAAGTGGAACTTCGA	0.602													20	80					0	0	0	0	C	995285	T	C	995285	3	2	211	1	0	0	0	0	1	0	0	0	7557	1696	59	5	541	5	IDUA	4	995285	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08		995285	190158991	25	38062											
FRYL	285527	broad.mit.edu	37	chr4	48523117	48523117	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctccaaagttggggtcTcatccctgatttgaagcact	10	11	9	11	0	1	2	1	2	1	0	4	2	3	2	3	2	2	2	3	2	3	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:48523117T>C	ENST00000537810.1	-	55	8241	c.7637A>G	c.(7636-7638)gAg>gGg	p.E2546G	FRYL_ENST00000503238.1_Missense_Mutation_p.E2546G|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.E2546G			O94915	FRYL_HUMAN	FRY-like	2546					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGTTGGGGTCTCATCCCTGAT	0.502													7	69					0	0	0	0	C	48523117	T	C	48523117	3	2	211	1	0	0	0	0	1	0	0	0	6112	1551	54	5	1444	5	FRYL	4	48523117	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	47527832	48523117	142631159	26	38063											
EPHA5	2044	broad.mit.edu	37	chr4	66270095	66270095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acagcttcctctcttaccttCcactgaggaggacgccgata	9	10	8	14	2	1	1	0	1	1	0	4	4	3	3	4	2	2	1	4	2	2	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:66270095C>T	ENST00000273854.3	-	8	2387	c.1787G>A	c.(1786-1788)gGa>gAa	p.G596E	EPHA5_ENST00000511294.1_Missense_Mutation_p.G597E|EPHA5_ENST00000354839.4_Missense_Mutation_p.G596E|EPHA5_ENST00000432638.2_Missense_Mutation_p.G433E	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	596					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTCTTACCTTCCACTGAGGAG	0.483										TSP Lung(17;0.13)			5	31					0	0	0	0	T	66270095	C	T	66270095	3	4	211	1	0	0	0	0	1	0	0	0	5208	855	30	2	1370	2	EPHA5	4	66270095	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	17746978	66270095	124884181	27	38064											
SLC4A4	8671	broad.mit.edu	37	chr4	72215646	72215646	+	Frame_Shift_Del	DEL	A	A	-																															taggtggatcaagtttgaagAaaaagtggaacagggtgggg																										TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:72215646delA	ENST00000340595.3	+	2	471	c.275delA	c.(274-276)gafs	p.E92fs	SLC4A4_ENST00000264485.5_Frame_Shift_Del_p.E136fs|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Frame_Shift_Del_p.E92fs|SLC4A4_ENST00000425175.1_Frame_Shift_Del_p.E136fs|SLC4A4_ENST00000351898.6_Frame_Shift_Del_p.E136fs	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	136						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AAGTTTGAAGAAAAAGTGGAA	0.438													7	96	---	---	---	---					-	72215646	A	-	72215646	7	5	211	1	0	1	0	1	0	0	0	0	14744	246	9	0	542	0	SLC4A4	4	72215646	Frame_Shift_Del	DEL	A	TCGA-CR-7389-01A-11D-2012-08	5945551	72215646	118938630	28	38065											
FRAS1	80144	broad.mit.edu	37	chr4	79460498	79460498	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttccatgatgtgcctttTgaggctcactttgcctctga	6	16	8	11	0	2	3	1	3	1	0	3	3	3	3	3	1	3	1	3	1	1	5			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:79460498T>A	ENST00000264895.6	+	73	11789	c.11349T>A	c.(11347-11349)ttT>ttA	p.F3783L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3778					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGTGCCTTTTGAGGCTCACT	0.418													5	133					0	0	0	0	A	79460498	T	A	79460498	3	1	211	1	0	0	0	0	1	0	0	0	6089	1809	63	5	11714	5	FRAS1	4	79460498	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	7244852	79460498	111693778	29	38066											
ARHGAP10	79658	broad.mit.edu	37	chr4	148800393	148800393	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgttgaagggcctgctccGtttggttccagttgggtcaa	5	15	13	8	1	1	1	1	1	0	0	3	1	3	1	3	3	1	5	3	3	2	5			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:148800393G>A	ENST00000336498.3	+	9	1082	c.843G>A	c.(841-843)ccG>ccA	p.P281P		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	281	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GGCCTGCTCCGTTTGGTTCCA	0.388													9	66					0	0	0	0	A	148800393	G	A	148800393	2	1	211	1	0	0	0	0	0	0	0	1	864	1132	40	1		1	ARHGAP10	4	148800393	Silent	SNP	G	TCGA-CR-7389-01A-11D-2012-08	69339895	148800393	42353883	30	38067											
NPY2R	4887	broad.mit.edu	37	chr4	156136041	156136041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccacatcatcgccatgtgctCcacttttgccaatccccttc	7	12	4	18	1	1	0	1	0	0	0	5	0	3	0	6	0	2	1	6	0	1	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:156136041C>T	ENST00000329476.3	+	2	1439	c.950C>T	c.(949-951)tCc>tTc	p.S317F	NPY2R_ENST00000506608.1_Missense_Mutation_p.S317F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	317					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GCCATGTGCTCCACTTTTGCC	0.527													34	57					0	0	0	0	T	156136041	C	T	156136041	3	4	211	1	0	0	0	0	1	0	0	0	10680	855	30	2	952	2	NPY2R	4	156136041	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	7335648	156136041	35018235	31	38068											
TPPP	11076	broad.mit.edu	37	chr5	665268	665268	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctgcgtgcttgtagccGgacacatagcctgactcgtc	6	10	12	13	3	0	1	0	1	0	0	2	2	0	2	3	1	5	2	3	1	2	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:665268G>A	ENST00000360578.5	-	4	730	c.609C>T	c.(607-609)tcC>tcT	p.S203S	CEP72_ENST00000514507.1_Intron	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	203					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		GCTTGTAGCCGGACACATAGC	0.657													4	151					0	0	0	0	A	665268	G	A	665268	2	1	211	1	0	0	0	0	0	0	0	1	16508	1103	39	1		1	TPPP	5	665268	Silent	SNP	G	TCGA-CR-7389-01A-11D-2012-08		665268	180249992	32	38069											
DNAH5	1767	broad.mit.edu	37	chr5	13841092	13841092	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcgttccgtggaactcaGatccctcgtggtgacgtcta	7	11	10	13	4	2	2	1	1	1	1	6	3	4	3	2	2	1	1	2	2	2	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:13841092G>A	ENST00000265104.4	-	34	5736	c.5632C>T	c.(5632-5634)Ctg>Ttg	p.L1878L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1878	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTGGAACTCAGATCCCTCGTG	0.398									Kartagener syndrome				14	194					0	0	0	0	A	13841092	G	A	13841092	2	1	211	1	0	0	0	0	0	0	0	1	4641	933	33	2		2	DNAH5	5	13841092	Silent	SNP	G	TCGA-CR-7389-01A-11D-2012-08	13175824	13841092	167074168	33	38070											
TRIO	7204	broad.mit.edu	37	chr5	14485286	14485286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcattttgcattcatctagtCcaagtgtccggcaaacttgg	9	14	8	10	1	3	0	2	0	1	0	5	0	5	0	2	2	2	2	2	2	3	5			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:14485286C>T	ENST00000344204.4	+	47	6790	c.6766C>T	c.(6766-6768)Cca>Tca	p.P2256S	TRIO_ENST00000537187.1_Missense_Mutation_p.P2256S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2256	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTCATCTAGTCCAAGTGTCCG	0.413													6	216					0	0	0	0	T	14485286	C	T	14485286	3	4	211	1	0	0	0	0	1	0	0	0	16647	855	30	2	6952	2	TRIO	5	14485286	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	644194	14485286	166429974	34	38071											
WDR70	55100	broad.mit.edu	37	chr5	37480070	37480070	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggagaccagtatattgTggacatggccaacaccaagg	16	6	11	8	0	0	1	0	0	0	1	0	3	0	2	3	4	1	1	3	4	6	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:37480070T>C	ENST00000265107.4	+	8	977	c.821T>C	c.(820-822)gTg>gCg	p.V274A	WDR70_ENST00000504564.1_Missense_Mutation_p.V274A|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	274										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGTATATTGTGGACATGGCC	0.338													4	140					0	0	0	0	C	37480070	T	C	37480070	3	2	211	1	0	0	0	0	1	0	0	0	17417	1696	59	5	851	5	WDR70	5	37480070	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	22994784	37480070	143435190	35	38072											
PTGER4	5734	broad.mit.edu	37	chr5	40681848	40681848	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccccagccttgccgcgcctCagcgactttcggcgccgccg	3	7	11	20	7	1	0	1	0	0	0	3	1	2	0	7	1	3	0	7	1	0	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:40681848C>G	ENST00000302472.3	+	2	1777	c.753C>G	c.(751-753)ctC>ctG	p.L251L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	251					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGCCGCGCCTCAGCGACTTTC	0.721													3	58					0	0	0	0	G	40681848	C	G	40681848	2	3	211	1	0	0	0	0	0	0	0	1	12825	813	29	2		2	PTGER4	5	40681848	Silent	SNP	C	TCGA-CR-7389-01A-11D-2012-08	3201778	40681848	140233412	36	38073											
C6	729	broad.mit.edu	37	chr5	41159295	41159295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctcgggttctcgatctcTtataagtagcatcacaggta	10	14	8	9	2	4	0	1	0	3	0	7	1	4	0	0	2	1	4	0	2	4	6			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:41159295T>C	ENST00000263413.3	-	12	2009	c.1745A>G	c.(1744-1746)aAg>aGg	p.K582R	C6_ENST00000337836.5_Missense_Mutation_p.K582R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	582	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTCGATCTCTTATAAGTAGC	0.507													85	71					0	0	0	0	C	41159295	T	C	41159295	3	2	211	1	0	0	0	0	1	0	0	0	2336	1609	56	5	1087	5	C6	5	41159295	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	477447	41159295	139755965	37	38074											
MAP1B	4131	broad.mit.edu	37	chr5	71493969	71493969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcagtgtctgttgtgcAaacacctaccacattccagg	9	12	7	13	0	2	0	1	0	1	0	3	0	3	0	4	1	3	2	4	1	2	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:71493969A>G	ENST00000296755.7	+	5	5085	c.4787A>G	c.(4786-4788)cAa>cGa	p.Q1596R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1596						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTGTTGTGCAAACACCTACC	0.468													15	94					0	0	0	0	G	71493969	A	G	71493969	3	3	211	1	0	0	0	0	1	0	0	0	9297	130	5	5	4805	5	MAP1B	5	71493969	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08	30334674	71493969	109421291	38	38075											
F2R	2149	broad.mit.edu	37	chr5	76028768	76028768	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtagtgcctctgctcctcAaggagcaaaccatccaggtg	9	8	12	12	0	2	0	1	0	1	0	4	1	4	1	4	3	4	3	4	3	3	1			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:76028768A>G	ENST00000319211.4	+	2	983	c.718A>G	c.(718-720)Aag>Gag	p.K240E		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	240					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TCTGCTCCTCAAGGAGCAAAC	0.562													3	101					0	0	0	0	G	76028768	A	G	76028768	3	3	211	1	0	0	0	0	1	0	0	0	5381	131	5	5	724	5	F2R	5	76028768	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08	4534799	76028768	104886492	39	38076											
HOMER1	9456	broad.mit.edu	37	chr5	78752757	78752757	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataagacacagtaactgcAtgcttgctggtgggtaccca	13	9	10	9	0	0	1	0	0	0	1	0	1	0	1	1	2	5	5	1	2	4	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:78752757A>G	ENST00000334082.6	-	2	1532	c.90T>C	c.(88-90)caT>caC	p.H30H	HOMER1_ENST00000282260.6_Silent_p.H30H|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Silent_p.H30H	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	30	WH1.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CAGTAACTGCATGCTTGCTGG	0.418													11	128					0	0	0	0	G	78752757	A	G	78752757	2	3	211	1	0	0	0	0	0	0	0	1	7328	214	8	5		5	HOMER1	5	78752757	Silent	SNP	A	TCGA-CR-7389-01A-11D-2012-08	2723989	78752757	102162503	40	38077											
FBN2	2201	broad.mit.edu	37	chr5	127800510	127800510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggatggccccacgcccGtccaatggtggcacagcaca	10	4	12	15	2	0	0	0	0	0	0	1	1	1	1	4	4	1	2	4	4	1	0	rs146941428		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:127800510G>A	ENST00000508053.1	-	12	1707	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	FBN2_ENST00000508989.1_Missense_Mutation_p.R212W|FBN2_ENST00000262464.4_Missense_Mutation_p.R245W			P35556	FBN2_HUMAN	fibrillin 2	245	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R245W(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCCCACGCCCGTCCAATGGTG	0.607													6	75					0	0	0	0	A	127800510	G	A	127800510	3	1	211	1	0	0	0	0	1	0	0	0	5748	1144	40	1	8245	1	FBN2	5	127800510	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	49047753	127800510	53114750	41	38078											
PCDHA6	56142	broad.mit.edu	37	chr5	140208448	140208448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattcgaaaatgcagacaacGgaacaacagttatcagactg	17	8	8	8	2	1	2	1	0	0	2	2	4	1	3	0	1	4	2	0	1	7	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:140208448G>A	ENST00000529310.1	+	1	886	c.772G>A	c.(772-774)Gga>Aga	p.G258R	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G258R|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGACAACGGAACAACAGT	0.423													11	54					0	0	0	0	A	140208448	G	A	140208448	3	1	211	1	0	0	0	0	1	0	0	0	11599	1117	39	1	774	1	PCDHA6	5	140208448	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	12407938	140208448	40706812	42	38079											
DIAPH1	1729	broad.mit.edu	37	chr5	140957813	140957813	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctccatgcgaatgtcaTccagccgtcccttcaggtca	8	10	7	16	2	4	0	3	0	1	0	7	1	6	0	5	1	2	0	5	1	1	1			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:140957813T>A	ENST00000253811.6	-	11	1282	c.1142A>T	c.(1141-1143)gAt>gTt	p.D381V	DIAPH1_ENST00000520569.1_Missense_Mutation_p.D327V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.D381V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.D372V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.D372V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.D372V|DIAPH1_ENST00000398557.4_Missense_Mutation_p.D381V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.D372V			O60610	DIAP1_HUMAN	diaphanous-related formin 1	381	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAATGTCATCCAGCCGTCC	0.433													17	67					0	0	0	0	A	140957813	T	A	140957813	3	1	211	1	0	0	0	0	1	0	0	0	4555	1435	50	5	2748	5	DIAPH1	5	140957813	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	749365	140957813	39957447	43	38080											
AFAP1L1	134265	broad.mit.edu	37	chr5	148679114	148679114	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccgggctgctcagccTcctggaccacgagtacctca	7	7	10	17	2	3	0	3	0	0	0	4	2	4	1	5	2	3	4	5	2	1	1			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:148679114T>A	ENST00000296721.4	+	2	157	c.59T>A	c.(58-60)cTc>cAc	p.L20H	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.L20H|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	20							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCAGCCTCCTGGACCAC	0.642													8	35					0	0	0	0	A	148679114	T	A	148679114	3	1	211	1	0	0	0	0	1	0	0	0	354	1551	54	5	65	5	AFAP1L1	5	148679114	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	7721301	148679114	32236146	44	38081											
ZNF300	91975	broad.mit.edu	37	chr5	150275862	150275862	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgagttctctgatgtacAacaagatgaaacttctcact	13	13	7	8	0	2	4	1	3	2	1	4	4	2	4	0	0	3	3	0	0	5	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:150275862A>G	ENST00000446148.2	-	7	1414	c.987T>C	c.(985-987)gtT>gtC	p.V329V	ZNF300_ENST00000418587.2_Silent_p.V277V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Silent_p.V313V|ZNF300_ENST00000274599.5_Silent_p.V313V	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTGATGTACAACAAGATGAA	0.388													12	102					0	0	0	0	G	150275862	A	G	150275862	2	3	211	1	0	0	0	0	0	0	0	1	17926	117	5	5		5	ZNF300	5	150275862	Silent	SNP	A	TCGA-CR-7389-01A-11D-2012-08	1596748	150275862	30639398	45	38082											
SCAND3	114821	broad.mit.edu	37	chr6	28554347	28554347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagcgctgacgagagaGttccctggtataagacaaat	13	8	11	9	2	0	4	0	2	0	2	1	6	1	4	2	1	1	3	2	1	4	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:28554347G>A	ENST00000452236.2	-	1	765	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	50					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGACGAGAGAGTTCCCTGGTA	0.507													35	58					0	0	0	0	A	28554347	G	A	28554347	3	1	211	1	0	0	0	0	1	0	0	0	13962	1029	36	4	3845	4	SCAND3	6	28554347	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08		28554347	142560720	46	38083											
TCTE1	202500	broad.mit.edu	37	chr6	44247948	44247948	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttctcagggccattggcAgttatggttgacatgaagtg	9	12	14	6	0	1	2	1	2	1	0	2	3	1	2	1	3	0	4	1	3	2	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:44247948A>T	ENST00000371505.4	-	5	1598	c.1476T>A	c.(1474-1476)acT>acA	p.T492T	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Silent_p.T189T|TCTE1_ENST00000371503.3_Silent_p.T189T	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	492										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCCATTGGCAGTTATGGTTG	0.577													22	120					0	0	0	0	T	44247948	A	T	44247948	2	4	211	1	0	0	0	0	0	0	0	1	15811	175	7	5		5	TCTE1	6	44247948	Silent	SNP	A	TCGA-CR-7389-01A-11D-2012-08	15693601	44247948	126867119	47	38084											
IBTK	25998	broad.mit.edu	37	chr6	82950154	82950154	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaggacatccaaagcaTgcttcagggatcgacacttt	14	8	9	10	1	1	1	1	0	0	1	3	4	2	3	1	2	2	2	1	2	2	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:82950154T>C	ENST00000306270.7	-	2	599	c.50A>G	c.(49-51)cAt>cGt	p.H17R	IBTK_ENST00000503631.1_Missense_Mutation_p.H17R|IBTK_ENST00000510291.1_Missense_Mutation_p.H17R	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	17					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ATCCAAAGCATGCTTCAGGGA	0.408													13	130					0	0	0	0	C	82950154	T	C	82950154	3	2	211	1	0	0	0	0	1	0	0	0	7529	1464	51	5	4123	5	IBTK	6	82950154	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	38702206	82950154	88164913	48	38085											
HIVEP2	3097	broad.mit.edu	37	chr6	143093537	143093537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatcttgtctgaatcaatgGctgaaggtgactcctctgac	10	12	9	10	0	4	4	1	4	3	0	5	4	5	4	1	2	0	1	1	2	3	1			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:143093537G>A	ENST00000367603.2	-	5	3081	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V	HIVEP2_ENST00000367604.1_Missense_Mutation_p.A780V|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A780V	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	780					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGAATCAATGGCTGAAGGTGA	0.512													13	64					0	0	0	0	A	143093537	G	A	143093537	3	1	211	1	0	0	0	0	1	0	0	0	7237	1203	42	4	5025	4	HIVEP2	6	143093537	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	60143383	143093537	28021530	49	38086											
PLEKHG1	57480	broad.mit.edu	37	chr6	151121855	151121855	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacatggactcttcctgcagGtccgtggctgtgctaacaga	9	10	11	11	1	1	1	0	0	1	1	3	2	3	2	2	3	4	3	2	3	2	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:151121855G>A	ENST00000367328.1	+	7	942	c.629_splice	c.e7-1	p.R210_splice	PLEKHG1_ENST00000358517.2_Splice_Site_p.R210_splice	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	210	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTTCCTGCAGGTCCGTGGCTG	0.428													6	55					0	0	0	0	A	151121855	G	A	151121855	5	1	211	1	0	0	0	0	0	0	1	0	12140	1275	44	4	648	4	PLEKHG1	6	151121855	Splice_Site	SNP	G	TCGA-CR-7389-01A-11D-2012-08	8028318	151121855	19993212	50	38087											
KIF25	3834	broad.mit.edu	37	chr6	168430194	168430194	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactggccttcccagctgaCatggacctcaggtcagcttc	8	10	9	14	0	2	1	2	1	0	0	4	2	3	2	3	3	3	2	3	3	1	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:168430194C>A	ENST00000443060.2	+	0	320				KIF25_ENST00000351261.3_De_novo_Start_OutOfFrame|KIF25_ENST00000515361.1_3'UTR|KIF25_ENST00000354419.2_De_novo_Start_OutOfFrame			Q9UIL4	KIF25_HUMAN	kinesin family member 25						microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TCCCAGCTGACATGGACCTCA	0.502													15	28					9.16793e-09	3.39016e-08	1	0	A	168430194	C	A	168430194	1	1	211	1	0	0	0	0	0	0	0	0	8344	493	17	4		4	KIF25	6	168430194	Translation_Start_Site	SNP	C	TCGA-CR-7389-01A-11D-2012-08	17308339	168430194	2684873	51	38088											
CYTH3	9265	broad.mit.edu	37	chr7	6213353	6213353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcttgaagaactttaataTtaaattcatccctgggaaaa	16	12	7	6	0	1	2	1	1	0	1	2	3	2	3	1	2	1	1	1	2	8	6			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:6213353T>C	ENST00000350796.3	-	6	516	c.380A>G	c.(379-381)aAt>aGt	p.N127S		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	127	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AACTTTAATATTAAATTCATC	0.358													21	30					0	0	0	0	C	6213353	T	C	6213353	3	2	211	1	0	0	0	0	1	0	0	0	4237	1493	52	5	851	5	CYTH3	7	6213353	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08		6213353	152925310	52	38089											
LIMK1	3984	broad.mit.edu	37	chr7	73535347	73535347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcttcttccccatcacCgtgcgctgttgcgatctgga	5	11	10	15	4	3	0	1	0	2	0	4	3	4	1	4	1	3	3	4	1	0	3	rs55722104		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:73535347C>T	ENST00000418310.1	+	15	1941	c.1839C>T	c.(1837-1839)acC>acT	p.T613T	LIMK1_ENST00000336180.2_Silent_p.T583T|LIMK1_ENST00000538333.3_Silent_p.T549T			P53667	LIMK1_HUMAN	LIM domain kinase 1	583					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TCCCCATCACCGTGCGCTGTT	0.662													41	189					0	0	0	0	T	73535347	C	T	73535347	2	4	211	1	0	0	0	0	0	0	0	1	8855	639	23	1		1	LIMK1	7	73535347	Silent	SNP	C	TCGA-CR-7389-01A-11D-2012-08	67321994	73535347	85603316	53	38090											
GNAT3	346562	broad.mit.edu	37	chr7	80091818	80091818	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttcctttagacttacCacttcttcgtcttccacgag	6	18	5	12	2	2	1	0	0	2	1	5	2	4	1	3	0	1	1	3	0	2	8			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:80091818C>T	ENST00000398291.3	-	6	813	c.720_splice	c.e6+1	p.V240_splice	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	240					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTAGACTTACCACTTCTTCGT	0.398													14	93					0	0	0	0	T	80091818	C	T	80091818	5	4	211	1	0	0	0	0	0	0	1	0	6564	608	21	4	354	4	GNAT3	7	80091818	Splice_Site	SNP	C	TCGA-CR-7389-01A-11D-2012-08	6556471	80091818	79046845	54	38091											
CUX1	1523	broad.mit.edu	37	chr7	101844978	101844978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggacccccagggagcagccGattgtgcacaaggggtcctg	8	6	15	12	1	0	0	0	0	0	0	1	3	1	2	4	4	3	2	4	4	1	1			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:101844978G>A	ENST00000360264.3	+	18	2454	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N	CUX1_ENST00000550008.2_Missense_Mutation_p.D745N|CUX1_ENST00000556210.1_Missense_Mutation_p.D643N|CUX1_ENST00000292535.7_Missense_Mutation_p.D801N|CUX1_ENST00000546411.2_Missense_Mutation_p.D699N|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.D779N|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	801					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGGAGCAGCCGATTGTGCACA	0.672													19	23					0	0	0	0	A	101844978	G	A	101844978	3	1	211	1	0	0	0	0	1	0	0	0	4096	1058	37	1	2538	1	CUX1	7	101844978	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	21753160	101844978	57293685	55	38092											
GPR124	25960	broad.mit.edu	37	chr8	37699033	37699033	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacggggtggcagcctcCgccctgggcctcttcgtctt	2	12	13	14	3	2	0	0	0	2	0	4	0	3	0	4	4	2	2	4	4	1	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:37699033C>T	ENST00000315215.7	+	16	2889	c.2526C>T	c.(2524-2526)tcC>tcT	p.S842S	GPR124_ENST00000412232.2_Silent_p.S1059S			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1059					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGCAGCCTCCGCCCTGGGCC	0.711													5	28					0	0	0	0	T	37699033	C	T	37699033	2	4	211	1	0	0	0	0	0	0	0	1	6687	639	23	1		1	GPR124	8	37699033	Silent	SNP	C	TCGA-CR-7389-01A-11D-2012-08		37699033	108664989	56	38093											
RP1	6101	broad.mit.edu	37	chr8	55533931	55533931	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagccgggccattagcgcGcactcaccgccccaccccgt	7	4	10	20	5	1	0	1	0	0	0	1	0	1	0	7	1	3	2	7	1	1	1			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:55533931G>A	ENST00000220676.1	+	2	553	c.405G>A	c.(403-405)gcG>gcA	p.A135A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	135					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.A135A(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATTAGCGCGCACTCACCGC	0.692													5	92					0	0	0	0	A	55533931	G	A	55533931	2	1	211	1	0	0	0	0	0	0	0	1	13617	1074	38	1		1	RP1	8	55533931	Silent	SNP	G	TCGA-CR-7389-01A-11D-2012-08	17834898	55533931	90830091	57	38094											
RUNX1T1	862	broad.mit.edu	37	chr8	92972688	92972688	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaatgagccacagtatcGggctgtgttacagccactgc	11	8	11	11	1	0	1	0	1	0	0	1	1	0	1	2	1	4	4	2	1	4	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:92972688G>A	ENST00000523629.1	-	12	2051	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.R533*|RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.R506*|RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.R544*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.R506*	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	533					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R533R(1)|p.R544R(1)|p.R496R(1)		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)			CCACAGTATCGGGCTGTGTTA	0.517													30	48					0	0	0	0	A	92972688	G	A	92972688	4	1	211	1	0	0	0	0	0	1	0	0	13832	1124	39	1	221	1	RUNX1T1	8	92972688	Nonsense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	37438757	92972688	53391334	58	38095											
ANGPT1	284	broad.mit.edu	37	chr8	108264120	108264120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatcatcatagttgtggaaCgtaaggagtaactgggccct	12	10	12	7	1	2	0	2	0	0	0	2	3	2	2	1	3	2	3	1	3	5	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:108264120C>T	ENST00000520734.1	-	8	1145	c.860G>A	c.(859-861)cGt>cAt	p.R287H	ANGPT1_ENST00000520052.1_Missense_Mutation_p.R286H|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	487	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.R487H(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGTTGTGGAACGTAAGGAGTA	0.428													7	147					0	0	0	0	T	108264120	C	T	108264120	3	4	211	1	0	0	0	0	1	0	0	0	610	536	19	1	40	1	ANGPT1	8	108264120	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	15291432	108264120	38099902	59	38096											
PKHD1L1	93035	broad.mit.edu	37	chr8	110455268	110455268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttttctccaaggagtcaTtaatgttttaccagctgaaa	12	15	6	8	0	2	1	1	1	1	0	3	2	2	2	2	1	2	2	2	1	4	5			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:110455268T>C	ENST00000378402.5	+	36	4591	c.4487T>C	c.(4486-4488)aTt>aCt	p.I1496T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1496					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAGGAGTCATTAATGTTTTA	0.418										HNSCC(38;0.096)			36	210					0	0	0	0	C	110455268	T	C	110455268	3	2	211	1	0	0	0	0	1	0	0	0	12044	1493	52	5	4629	5	PKHD1L1	8	110455268	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	2191148	110455268	35908754	60	38097											
ADCY8	114	broad.mit.edu	37	chr8	131880107	131880107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaccttgaagaaggaagcAaactttgtattgccgtgata	13	13	9	6	1	0	3	0	2	0	1	0	4	0	4	2	1	4	2	2	1	7	7			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:131880107A>G	ENST00000286355.5	-	9	4287	c.2195T>C	c.(2194-2196)tTg>tCg	p.L732S	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	732					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGAAGGAAGCAAACTTTGTAT	0.343										HNSCC(32;0.087)			5	44					0	0	0	0	G	131880107	A	G	131880107	3	3	211	1	0	0	0	0	1	0	0	0	300	131	5	5	1600	5	ADCY8	8	131880107	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08	21424839	131880107	14483915	61	38098											
ROR2	4920	broad.mit.edu	37	chr9	94486931	94486931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcacattgcgggtggccagGtccttgtgaaccacgtggtg	7	9	15	10	2	0	1	0	1	0	0	1	1	1	1	3	4	3	1	3	4	1	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:94486931G>A	ENST00000375708.3	-	9	2043	c.1845C>T	c.(1843-1845)gaC>gaT	p.D615D	ROR2_ENST00000375715.1_Silent_p.D475D|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	615	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			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						GGGTGGCCAGGTCCTTGTGAA	0.597													16	105					0	0	0	0	A	94486931	G	A	94486931	2	1	211	1	0	0	0	0	0	0	0	1	13612	1252	44	4		4	ROR2	9	94486931	Silent	SNP	G	TCGA-CR-7389-01A-11D-2012-08		94486931	46726500	62	38099											
OMD	4958	broad.mit.edu	37	chr9	95179448	95179448	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaaacacaccataatcaatCttttgagatttaattttgtt	14	16	4	7	0	2	1	1	1	1	1	2	2	2	1	1	0	1	2	1	0	4	8			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:95179448C>G	ENST00000375550.4	-	2	668	c.393G>C	c.(391-393)aaG>aaC	p.K131N	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	131					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						CATAATCAATCTTTTGAGATT	0.328			T	USP6	aneurysmal bone cysts								6	109					0	0	0	0	G	95179448	C	G	95179448	3	3	211	1	0	0	0	0	1	0	0	0	10936	912	32	2	880	2	OMD	9	95179448	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	692517	95179448	46033983	63	38100											
SMC2	10592	broad.mit.edu	37	chr9	106891994	106891994	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttggccaacccaatagTgcctatgatttcaaaactaa	13	12	5	11	0	2	1	1	1	1	0	2	1	2	1	3	1	3	0	3	1	7	5			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:106891994T>C	ENST00000286398.7	+	21	3147	c.2859T>C	c.(2857-2859)agT>agC	p.S953S	SMC2_ENST00000374793.3_Silent_p.S953S|SMC2_ENST00000303219.8_Silent_p.S953S|SMC2_ENST00000374787.3_Silent_p.S953S	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	953					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AACCCAATAGTGCCTATGATT	0.378													5	124					0	0	0	0	C	106891994	T	C	106891994	2	2	211	1	0	0	0	0	0	0	0	1	14871	1693	59	5		5	SMC2	9	106891994	Silent	SNP	T	TCGA-CR-7389-01A-11D-2012-08	11712546	106891994	34321437	64	38101											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899866	112899866	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcactgtggtcaaggatgAtgaccatgggattttggatc	9	12	12	8	0	2	2	2	2	0	0	3	5	2	5	2	4	0	0	2	4	1	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:112899866A>T	ENST00000374530.3	+	8	2222	c.2042A>T	c.(2041-2043)gAt>gTt	p.D681V	AKAP2_ENST00000259318.7_Missense_Mutation_p.D450V|AKAP2_ENST00000555236.1_Missense_Mutation_p.D681V|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.D681V|AKAP2_ENST00000510514.5_Missense_Mutation_p.D681V|AKAP2_ENST00000434623.2_Missense_Mutation_p.D539V|AKAP2_ENST00000374525.1_Missense_Mutation_p.D539V	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		450							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GTCAAGGATGATGACCATGGG	0.522													84	87					0	0	0	0	T	112899866	A	T	112899866	3	4	211	1	0	0	0	0	1	0	0	0	11481	333	12	5	2072	5	PALM2-AKAP2	9	112899866	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08	6007872	112899866	28313565	65	38102											
ITGA8	8516	broad.mit.edu	37	chr10	15647748	15647748	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccgacagcttcaagtcagGaacacacagattgtcttctc	12	9	8	12	1	4	1	2	0	2	1	5	3	4	2	1	1	3	1	1	1	2	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:15647748G>T	ENST00000378076.3	-	19	2298	c.1945C>A	c.(1945-1947)Cct>Act	p.P649T		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	649					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTCAAGTCAGGAACACACAGA	0.388													6	31					8.12818e-05	0.00028813	1	0	T	15647748	G	T	15647748	3	4	211	1	0	0	0	0	1	0	0	0	7935	1174	41	2	1294	2	ITGA8	10	15647748	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08		15647748	119886999	66	38103											
PLXDC2	84898	broad.mit.edu	37	chr10	20568717	20568717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgaaccagttggagagaAagaaggctttattgtatcag	14	11	12	4	0	1	3	1	1	0	2	1	5	1	4	1	2	1	4	1	2	5	6			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:20568717A>G	ENST00000377252.3	+	14	2400	c.1559A>G	c.(1558-1560)aAa>aGa	p.K520R	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.K471R	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	520						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GTTGGAGAGAAAGAAGGCTTT	0.423													3	44					0	0	0	0	G	20568717	A	G	20568717	3	3	211	1	0	0	0	0	1	0	0	0	12190	14	1	5	1613	5	PLXDC2	10	20568717	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08	4920969	20568717	114966030	67	38104											
CTNNA3	29119	broad.mit.edu	37	chr10	69407256	69407256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcgatattcaatgtgattgGtgtttcagctgacatgctgc	9	15	10	7	1	2	2	2	2	0	0	3	3	2	2	0	1	3	3	0	1	2	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:69407256G>A	ENST00000433211.1	-	2	190	c.16C>T	c.(16-18)Cca>Tca	p.P6S	CTNNA3_ENST00000545309.1_Missense_Mutation_p.P6S|CTNNA3_ENST00000373744.4_Missense_Mutation_p.P6S	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	6					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AATGTGATTGGTGTTTCAGCT	0.393													13	105					0	0	0	0	A	69407256	G	A	69407256	3	1	211	1	0	0	0	0	1	0	0	0	4046	1261	44	4	2739	4	CTNNA3	10	69407256	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	48838539	69407256	66127491	68	38105											
USP54	159195	broad.mit.edu	37	chr10	75289616	75289616	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggggcttggtccaccaaAtttaatgtcgtaagaaggtg	10	11	13	7	1	0	1	0	0	0	1	2	1	1	1	2	4	0	2	2	4	4	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:75289616A>G	ENST00000339859.4	-	14	1982	c.1882T>C	c.(1882-1884)Ttt>Ctt	p.F628L	USP54_ENST00000408019.1_Missense_Mutation_p.F628L|USP54_ENST00000319786.7_Missense_Mutation_p.F628L|USP54_ENST00000428547.1_Missense_Mutation_p.F478L|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	628					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGTCCACCAAATTTAATGTCG	0.483											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	130					0	0	0	0	G	75289616	A	G	75289616	3	3	211	1	0	0	0	0	1	0	0	0	17181	101	4	5	3212	5	USP54	10	75289616	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08	5882360	75289616	60245131	69	38106											
NDST2	8509	broad.mit.edu	37	chr10	75567972	75567972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccaggaccagctgcccCaccgctgctgcagtctccca	7	5	11	18	1	1	0	0	0	1	0	2	1	1	1	6	2	4	4	6	2	0	0			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:75567972C>T	ENST00000309979.6	-	3	731	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	NDST2_ENST00000299641.4_Intron			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	59	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CCAGCTGCCCCACCGCTGCTG	0.632													3	16					0	0	0	0	T	75567972	C	T	75567972	3	4	211	1	0	0	0	0	1	0	0	0	10326	594	21	4	2528	4	NDST2	10	75567972	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	278356	75567972	59966775	70	38107											
IFIT3	3437	broad.mit.edu	37	chr10	91098946	91098946	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctctggactggcaatTgcgatgtaccatctggataa	9	13	9	10	1	3	0	0	0	3	0	4	3	3	2	2	3	2	2	2	3	3	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:91098946T>C	ENST00000371818.4	+	2	714	c.534T>C	c.(532-534)atT>atC	p.I178I	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Silent_p.I178I	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	178					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						GACTGGCAATTGCGATGTACC	0.458													15	91					0	0	0	0	C	91098946	T	C	91098946	2	2	211	1	0	0	0	0	0	0	0	1	7577	1800	63	5		5	IFIT3	10	91098946	Silent	SNP	T	TCGA-CR-7389-01A-11D-2012-08	15530974	91098946	44435801	71	38108											
SORBS1	10580	broad.mit.edu	37	chr10	97174256	97174256	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagcaagcttacggtacTcgaaacagctcccgtgaggt	10	8	11	12	3	0	1	0	1	0	0	3	2	2	1	2	2	6	4	2	2	4	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:97174256T>A	ENST00000371247.2	-	9	994	c.805A>T	c.(805-807)Agt>Tgt	p.S269C	SORBS1_ENST00000277982.5_Missense_Mutation_p.S269C|SORBS1_ENST00000354106.3_Missense_Mutation_p.S260C|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.S269C|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371245.3_Missense_Mutation_p.S200C|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Missense_Mutation_p.S237C|SORBS1_ENST00000371246.2_Missense_Mutation_p.S269C|SORBS1_ENST00000361941.3_Missense_Mutation_p.S269C|SORBS1_ENST00000393949.1_Missense_Mutation_p.S260C|SORBS1_ENST00000353505.5_Missense_Mutation_p.S200C			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	269					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTTACGGTACTCGAAACAGCT	0.602													8	47					0	0	0	0	A	97174256	T	A	97174256	3	1	211	1	0	0	0	0	1	0	0	0	15015	1551	54	5	3370	5	SORBS1	10	97174256	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	6075310	97174256	38360491	72	38109											
C10orf120	399814	broad.mit.edu	37	chr10	124459210	124459210	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagagttggtattaaataTtctaactggcttttcattct	11	17	8	5	0	3	1	1	0	2	1	3	2	3	2	0	3	1	3	0	3	6	9			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:124459210T>C	ENST00000329446.4	-	1	128	c.97A>G	c.(97-99)Ata>Gta	p.I33V		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	33										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTATTAAATATTCTAACTGGC	0.433													15	58					0	0	0	0	C	124459210	T	C	124459210	3	2	211	1	0	0	0	0	1	0	0	0	1600	1493	52	5	922	5	C10orf120	10	124459210	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	27284954	124459210	11075537	73	38110											
OR8H1	219469	broad.mit.edu	37	chr11	56057819	56057819	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcccaagagatgagaggcAcaagtagacaaagctttctg	15	7	10	9	0	1	3	0	1	1	3	2	5	2	3	1	1	1	3	1	1	4	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:56057819A>G	ENST00000313022.2	-	1	747	c.720T>C	c.(718-720)tgT>tgC	p.C240C		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GATGAGAGGCACAAGTAGACA	0.383													12	60					0	0	0	0	G	56057819	A	G	56057819	2	3	211	1	0	0	0	0	0	0	0	1	11308	157	6	5		5	OR8H1	11	56057819	Silent	SNP	A	TCGA-CR-7389-01A-11D-2012-08		56057819	78948697	74	38111											
OR5M8	219484	broad.mit.edu	37	chr11	56258800	56258800	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaattcccggcgactggtcAgtcccaggagaatgaactca	11	8	11	11	2	2	2	2	1	0	1	4	4	4	2	2	3	1	1	2	3	3	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:56258800A>T	ENST00000327216.2	-	1	71	c.47T>A	c.(46-48)cTg>cAg	p.L16Q		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCGACTGGTCAGTCCCAGGAG	0.448													17	74					0	0	0	0	T	56258800	A	T	56258800	3	4	211	1	0	0	0	0	1	0	0	0	11247	188	7	5	892	5	OR5M8	11	56258800	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08	200981	56258800	78747716	75	38112											
OSBP	5007	broad.mit.edu	37	chr11	59361545	59361545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcaaaggtctccccaaGcagtgggttgaatggcttac	10	9	11	11	0	2	1	1	1	1	0	3	1	2	1	2	3	3	4	2	3	4	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:59361545G>T	ENST00000263847.1	-	8	1974	c.1495C>A	c.(1495-1497)Ctt>Att	p.L499I		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	499					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTCTCCCCAAGCAGTGGGTTG	0.488													4	28					0.000602214	0.00212012	1	0	T	59361545	G	T	59361545	3	4	211	1	0	0	0	0	1	0	0	0	11344	971	34	4	956	4	OSBP	11	59361545	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	3102745	59361545	75644971	76	38113											
ZBTB3	79842	broad.mit.edu	37	chr11	62521078	62521078	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtcacaaaggaaacccTgggaccgctgctcccggagg	10	5	13	13	2	1	0	1	0	0	0	2	3	2	3	3	4	3	3	3	4	2	0			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:62521078T>A	ENST00000394807.3	-	2	334	c.209A>T	c.(208-210)cAg>cTg	p.Q70L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AAGGAAACCCTGGGACCGCTG	0.592													9	30					0	0	0	0	A	62521078	T	A	62521078	3	1	211	1	0	0	0	0	1	0	0	0	17629	1580	55	5	1519	5	ZBTB3	11	62521078	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	3159533	62521078	72485438	77	38114											
KDELC2	143888	broad.mit.edu	37	chr11	108348424	108348424	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttttgcaatcttcttggcTtcttcatcattttcctgaaa	7	20	4	10	0	6	1	2	1	4	0	7	1	7	1	1	1	1	2	1	1	2	8			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:108348424T>C	ENST00000434945.2	-	6	1442	c.1140A>G	c.(1138-1140)gaA>gaG	p.E380E	KDELC2_ENST00000323468.5_Silent_p.E436E|KDELC2_ENST00000532730.1_5'UTR			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	436						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TCTTCTTGGCTTCTTCATCAT	0.413													17	71					0	0	0	0	C	108348424	T	C	108348424	2	2	211	1	0	0	0	0	0	0	0	1	8171	1606	56	5		5	KDELC2	11	108348424	Silent	SNP	T	TCGA-CR-7389-01A-11D-2012-08	45827346	108348424	26658092	78	38115											
C11orf1	64776	broad.mit.edu	37	chr11	111753218	111753218	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtatggatggcgatgcAccactaatgagaatacctat	13	10	9	9	1	0	1	0	1	0	1	1	4	1	2	3	2	2	2	3	2	5	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:111753218A>G	ENST00000260276.3	+	2	509	c.172A>G	c.(172-174)Acc>Gcc	p.T58A	C11orf1_ENST00000530214.1_Missense_Mutation_p.T58A|C11orf1_ENST00000529270.1_Missense_Mutation_p.T98A|C11orf1_ENST00000528125.1_Missense_Mutation_p.T12A	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	58						nucleus				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ATGGCGATGCACCACTAATGA	0.468													6	40					0	0	0	0	G	111753218	A	G	111753218	3	3	211	1	0	0	0	0	1	0	0	0	1639	159	6	5	178	5	C11orf1	11	111753218	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08	3404794	111753218	23253298	79	38116											
ZNF202	7753	broad.mit.edu	37	chr11	123597309	123597309	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgtaaggcgcgttcatcTtgtgaaccttttggtgcctg	6	16	11	8	2	2	1	1	1	1	0	2	1	2	1	2	2	2	2	2	2	2	6			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:123597309T>A	ENST00000336139.4	-	8	1705	c.1343A>T	c.(1342-1344)aAg>aTg	p.K448M	ZNF202_ENST00000529691.1_Missense_Mutation_p.K448M|ZNF202_ENST00000530393.1_Missense_Mutation_p.K448M			O95125	ZN202_HUMAN	zinc finger protein 202	448					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CGCGTTCATCTTGTGAACCTT	0.468													18	78					0	0	0	0	A	123597309	T	A	123597309	3	1	211	1	0	0	0	0	1	0	0	0	17858	1609	56	5	607	5	ZNF202	11	123597309	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	11844091	123597309	11409207	80	38117											
ZBTB44	29068	broad.mit.edu	37	chr11	130131282	130131282	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactgcactctgaggacaCgggagaaatgctcccatctc	11	7	9	14	1	2	2	0	1	2	1	4	4	3	3	1	2	2	2	1	2	1	0			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:130131282C>A	ENST00000525842.1	-	2	854	c.487G>T	c.(487-489)Gtg>Ttg	p.V163L	ZBTB44_ENST00000530205.1_Missense_Mutation_p.V163L|ZBTB44_ENST00000397753.1_Missense_Mutation_p.V163L|ZBTB44_ENST00000357899.4_Missense_Mutation_p.V163L	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TCTGAGGACACGGGAGAAATG	0.453													8	42					5.18039e-06	1.87516e-05	1	0	A	130131282	C	A	130131282	3	1	211	1	0	0	0	0	1	0	0	0	17640	536	19	3	894	3	ZBTB44	11	130131282	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	6533973	130131282	4875234	81	38118											
KDM5A	5927	broad.mit.edu	37	chr12	464365	464365	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccgttgtctcatttgcaTgttaaatgcgtctgacctgt	6	18	8	9	2	2	1	1	1	2	0	4	1	3	1	2	0	2	3	2	0	2	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:464365T>C	ENST00000399788.2	-	7	1191	c.829A>G	c.(829-831)Atg>Gtg	p.M277V	KDM5A_ENST00000382815.4_Missense_Mutation_p.M277V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	277					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTCATTTGCATGTTAAATGCG	0.368			T	NUP98	AML								10	37					0	0	0	0	C	464365	T	C	464365	3	2	211	1	0	0	0	0	1	0	0	0	8185	1464	51	5	4331	5	KDM5A	12	464365	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08		464365	133387530	82	38119											
C12orf36	283422	broad.mit.edu	37	chr12	13526327	13526327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcagaatgtgtctacgagCgctctgactcttccagggaa	10	9	11	11	2	3	2	0	1	3	1	4	4	4	3	1	1	3	2	1	1	3	2	rs146660868		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:13526327C>T	ENST00000318426.2	-	3	445	c.228G>A	c.(226-228)gcG>gcA	p.A76A	C12orf36_ENST00000527705.2_Silent_p.A76A					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TGTCTACGAGCGCTCTGACTC	0.473													12	51					0	0	0	0	T	13526327	C	T	13526327	2	4	211	1	0	0	0	0	0	0	0	1	1695	755	27	1		1	C12orf36	12	13526327	Silent	SNP	C	TCGA-CR-7389-01A-11D-2012-08	13061962	13526327	120325568	83	38120											
PTPRO	5800	broad.mit.edu	37	chr12	15733638	15733638	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttatctttcagggatacaActcaccccaggagtatattg	12	12	7	10	0	3	0	2	0	1	0	3	2	3	2	2	2	2	1	2	2	5	6			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:15733638A>G	ENST00000281171.4	+	22	3335	c.3005A>G	c.(3004-3006)aAc>aGc	p.N1002S	PTPRO_ENST00000445537.2_Missense_Mutation_p.N191S|PTPRO_ENST00000544244.1_Missense_Mutation_p.N163S|PTPRO_ENST00000348962.2_Missense_Mutation_p.N974S|PTPRO_ENST00000542557.1_Missense_Mutation_p.N163S|PTPRO_ENST00000442921.2_Missense_Mutation_p.N191S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1002	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CAGGGATACAACTCACCCCAG	0.438													10	30					0	0	0	0	G	15733638	A	G	15733638	3	3	211	1	0	0	0	0	1	0	0	0	12891	43	2	5	3091	5	PTPRO	12	15733638	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08	2207311	15733638	118118257	84	38121											
COL2A1	1280	broad.mit.edu	37	chr12	48367278	48367278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtcaatgatggggaggCgtgaggtcttctgtgaccgg	8	10	16	7	2	3	3	1	3	2	0	3	4	3	4	1	5	0	0	1	5	2	1			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:48367278C>T	ENST00000380518.3	-	54	4540	c.4376G>A	c.(4375-4377)cGc>cAc	p.R1459H	COL2A1_ENST00000337299.6_Missense_Mutation_p.R1390H|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1459	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GATGGGGAGGCGTGAGGTCTT	0.527													24	56					0	0	0	0	T	48367278	C	T	48367278	3	4	211	1	0	0	0	0	1	0	0	0	3717	768	27	1	91	1	COL2A1	12	48367278	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	32633640	48367278	85484617	85	38122											
PRPF40B	25766	broad.mit.edu	37	chr12	50036081	50036081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcacgcaggatgcggCgcagggaagctgcctttcga	9	5	17	10	4	0	0	0	0	0	0	1	4	0	3	1	5	3	4	1	5	1	1			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:50036081C>T	ENST00000261897.1	+	19	2394	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	PRPF40B_ENST00000548825.2_Missense_Mutation_p.R650C|PRPF40B_ENST00000380281.1_Missense_Mutation_p.R628C|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	628					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CAGGATGCGGCGCAGGGAAGC	0.642													8	84					0	0	0	0	T	50036081	C	T	50036081	3	4	211	1	0	0	0	0	1	0	0	0	12652	768	27	1	1956	1	PRPF40B	12	50036081	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	1668803	50036081	83815814	86	38123											
KRT1	3848	broad.mit.edu	37	chr12	53069124	53069124	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggccgccagagctgccGccgccgccgcctccagagcc	4	2	12	23	6	0	2	0	0	0	2	1	2	1	2	11	1	3	1	11	1	0	0			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:53069124G>A	ENST00000252244.3	-	9	1846	c.1788C>T	c.(1786-1788)ggC>ggT	p.G596G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	596	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						cagagctgccgccgccgccgc	0.711													9	37					0	0	0	0	A	53069124	G	A	53069124	2	1	211	1	0	0	0	0	0	0	0	1	8499	1074	38	1		1	KRT1	12	53069124	Silent	SNP	G	TCGA-CR-7389-01A-11D-2012-08	3033043	53069124	80782771	87	38124											
ATP5G2	517	broad.mit.edu	37	chr12	54063126	54063126	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgccaagctgctgaggctCtgtgaaaaagaggcaggtag	12	7	14	8	0	1	3	0	2	1	1	1	3	1	3	1	3	3	5	1	3	4	1			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:54063126C>T	ENST00000338662.5	-	4	1371		c.e4-1		ATP5G2_ENST00000549164.1_Splice_Site|ATP5G2_ENST00000602871.1_Splice_Site|ATP5G2_ENST00000394349.3_Splice_Site	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)						ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TGCTGAGGCTCTGTGAAAAAG	0.473													3	22					0	0	0	0	T	54063126	C	T	54063126	5	4	211	1	0	0	0	0	0	0	1	0	1158	927	32	2	316	2	ATP5G2	12	54063126	Splice_Site	SNP	C	TCGA-CR-7389-01A-11D-2012-08	994002	54063126	79788769	88	38125											
TCTN1	79600	broad.mit.edu	37	chr12	111078916	111078916	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacagttagcagcgtagtgGtcccactgcagcaaaagttt	11	9	12	9	1	0	0	0	0	0	0	1	1	1	1	1	2	4	6	1	2	4	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:111078916G>C	ENST00000551590.1	+	9	1222	c.1066G>C	c.(1066-1068)Gtc>Ctc	p.V356L	TCTN1_ENST00000377654.3_Missense_Mutation_p.V178L|TCTN1_ENST00000397655.3_Missense_Mutation_p.V342L|TCTN1_ENST00000397659.4_Missense_Mutation_p.V356L|HVCN1_ENST00000548312.1_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	356					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						CAGCGTAGTGGTCCCACTGCA	0.378													16	56					0	0	0	0	C	111078916	G	C	111078916	3	2	211	1	0	0	0	0	1	0	0	0	15816	1261	44	4	1272	4	TCTN1	12	111078916	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	57015790	111078916	22772979	89	38126											
TAOK3	51347	broad.mit.edu	37	chr12	118610455	118610455	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggtgtgctatggtccTcattcatttcctaaaaagaa	10	15	8	8	0	3	1	2	0	1	1	5	1	5	1	2	2	1	1	2	2	5	5			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:118610455T>C	ENST00000392533.3	-	17	2196	c.1706A>G	c.(1705-1707)gAg>gGg	p.E569G	TAOK3_ENST00000537952.1_Missense_Mutation_p.E109G|TAOK3_ENST00000419821.2_Missense_Mutation_p.E569G	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	569					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTATGGTCCTCATTCATTTC	0.418													3	138					0	0	0	0	C	118610455	T	C	118610455	3	2	211	1	0	0	0	0	1	0	0	0	15640	1551	54	5	1010	5	TAOK3	12	118610455	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	7531539	118610455	15241440	90	38127											
DDX55	57696	broad.mit.edu	37	chr12	124099831	124099831	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatgaaatataaacgcaaTaagatcttcatggagttccg	17	10	8	6	2	2	3	1	1	1	2	3	4	3	4	1	1	1	2	1	1	7	5			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:124099831T>A	ENST00000238146.4	+	9	974	c.924T>A	c.(922-924)aaT>aaA	p.N308K	DDX55_ENST00000541259.1_3'UTR|DDX55_ENST00000538744.1_Missense_Mutation_p.N308K	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	308	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ATAAACGCAATAAGATCTTCA	0.493													9	48					0	0	0	0	A	124099831	T	A	124099831	3	1	211	1	0	0	0	0	1	0	0	0	4405	1403	49	5	958	5	DDX55	12	124099831	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	5489376	124099831	9752064	91	38128											
TMEM132D	121256	broad.mit.edu	37	chr12	129559121	129559121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaaaaggctttcctggcCtttcttcttctgcaggatgg	7	15	9	10	0	4	0	0	0	4	0	5	1	5	1	2	4	1	2	2	4	2	5			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:129559121C>T	ENST00000422113.2	-	9	2925	c.2599G>A	c.(2599-2601)Ggc>Agc	p.G867S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G405S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	867						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTTCCTGGCCTTTCTTCTTC	0.567													6	55					0	0	0	0	T	129559121	C	T	129559121	3	4	211	1	0	0	0	0	1	0	0	0	16141	681	24	4	704	4	TMEM132D	12	129559121	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	5459290	129559121	4292774	92	38129											
GPR133	283383	broad.mit.edu	37	chr12	131593399	131593399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggaggacagcaagcaccGttactactatgggatgggat	11	8	14	8	2	0	0	0	0	0	0	1	4	0	4	1	4	4	3	1	4	4	3	rs141128784		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:131593399G>A	ENST00000261654.5	+	18	2577	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	GPR133_ENST00000543617.1_Missense_Mutation_p.R192H|GPR133_ENST00000376682.4_Missense_Mutation_p.R359H|GPR133_ENST00000535015.1_Missense_Mutation_p.R705H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	673					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R673H(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGCAAGCACCGTTACTACTat	0.607													15	68					0	0	0	0	A	131593399	G	A	131593399	3	1	211	1	0	0	0	0	1	0	0	0	6692	1145	40	1	2088	1	GPR133	12	131593399	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	2034278	131593399	2258496	93	38130											
SLC46A3	283537	broad.mit.edu	37	chr13	29287503	29287503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaaaagctggaatggaaagGcaaaatagcaaagcaaacag	21	4	10	6	0	1	0	1	0	0	0	1	2	1	2	0	3	4	4	0	3	9	1			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:29287503G>A	ENST00000266943.6	-	3	743	c.374C>T	c.(373-375)gCc>gTc	p.A125V	SLC46A3_ENST00000380814.4_Missense_Mutation_p.A125V	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	125					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GAATGGAAAGGCAAAATAGCA	0.413													6	22					0	0	0	0	A	29287503	G	A	29287503	3	1	211	1	0	0	0	0	1	0	0	0	14734	1203	42	4	1041	4	SLC46A3	13	29287503	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08		29287503	85882375	94	38131											
NBEA	26960	broad.mit.edu	37	chr13	35770345	35770345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgctccagttgaaataGcagaatgtggccctgaacct	10	10	11	10	0	0	3	0	2	0	1	1	3	1	3	3	2	3	4	3	2	4	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:35770345G>A	ENST00000540320.1	+	31	5806	c.5272G>A	c.(5272-5274)Gca>Aca	p.A1758T	NBEA_ENST00000400445.3_Missense_Mutation_p.A1758T|NBEA_ENST00000379939.2_Missense_Mutation_p.A1755T|NBEA_ENST00000310336.4_Missense_Mutation_p.A1758T			Q8NFP9	NBEA_HUMAN	neurobeachin	1758						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTTGAAATAGCAGAATGTGG	0.428													12	44					0	0	0	0	A	35770345	G	A	35770345	3	1	211	1	0	0	0	0	1	0	0	0	10257	971	34	4	5394	4	NBEA	13	35770345	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	6482842	35770345	79399533	95	38132											
FOXO1	2308	broad.mit.edu	37	chr13	41133857	41133857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctcctggtggagaaggcCcattctgccatagccattgc	7	11	10	13	0	2	1	0	0	2	1	3	2	2	1	4	3	3	0	4	3	2	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:41133857C>T	ENST00000379561.5	-	2	2155	c.1771G>A	c.(1771-1773)Ggc>Agc	p.G591S		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	591					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TGGAGAAGGCCCATTCTGCCA	0.547													22	71					0	0	0	0	T	41133857	C	T	41133857	3	4	211	1	0	0	0	0	1	0	0	0	6070	623	22	4	200	4	FOXO1	13	41133857	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	5363512	41133857	74036021	96	38133											
DIS3	22894	broad.mit.edu	37	chr13	73337680	73337680	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgttcagaaaattcctcaTgaattttttttgcaacagaa	14	15	5	7	0	2	3	2	1	0	2	3	3	3	3	1	0	2	2	1	0	5	6			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:73337680T>G	ENST00000377767.4	-	16	2136	c.2036A>C	c.(2035-2037)cAt>cCt	p.H679P	DIS3_ENST00000545453.1_Missense_Mutation_p.H517P|DIS3_ENST00000377780.4_Missense_Mutation_p.H649P	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	679					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAATTCCTCATGAATTTTTTT	0.368										Multiple Myeloma(4;0.011)			6	32					0	0	0	0	G	73337680	T	G	73337680	3	3	211	1	0	0	0	0	1	0	0	0	4572	1464	51	5	864	5	DIS3	13	73337680	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08	32203823	73337680	41832198	97	38134											
KLF5	688	broad.mit.edu	37	chr13	73636125	73636137	+	Frame_Shift_Del	DEL	TTACCTTACAGTA	TTACCTTACAGTA	-																															tcttcactgacactgaagggTtaccttacagtatcaacatg																								rs143426593		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:73636125_73636137delTTACCTTACAGTA	ENST00000377687.4	+	2	924_936	c.388_400delTTACCTTACAGTA	c.(388-402)tcfs	p.LPYSI130fs	KLF5_ENST00000539231.1_Frame_Shift_Del_p.LPYSI39fs|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	130					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CACTGAAGGGTTACCTTACAGTATCAACATGAA	0.474													22	166	---	---	---	---					-	73636137	TTACCTTACAGTA	-	73636125	7	5	211	1	0	1	0	1	0	0	0	0	8401	1722	60	0	394	0	KLF5	13	73636125	Frame_Shift_Del	DEL	TTACCTTACAGTA	TCGA-CR-7389-01A-11D-2012-08	298445	73636125	41533753	98	38135											
TEP1	7011	broad.mit.edu	37	chr14	20845894	20845894	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacggggccgacccagagAccctgaccacacctgaacct	10	3	9	19	2	0	3	0	2	0	1	0	5	0	3	7	2	1	0	7	2	1	0			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr14:20845894A>T	ENST00000262715.5	-	40	5780	c.5740T>A	c.(5740-5742)Tct>Act	p.S1914T	TEP1_ENST00000545983.1_Missense_Mutation_p.S252T|TEP1_ENST00000556935.1_Missense_Mutation_p.S1806T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1914					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGACCCAGAGACCCTGACCAC	0.587													12	46					0	0	0	0	T	20845894	A	T	20845894	3	4	211	1	0	0	0	0	1	0	0	0	15853	275	10	5	2207	5	TEP1	14	20845894	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08		20845894	86503646	99	38136											
SERPINA4	5267	broad.mit.edu	37	chr14	95033317	95033317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcccttcagccctgtgggaGaaaccattcatttcctcaag	9	12	7	13	0	3	1	3	0	0	1	5	2	5	1	4	1	2	0	4	1	2	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr14:95033317G>A	ENST00000557004.1	+	3	1081	c.660G>A	c.(658-660)gaG>gaA	p.E220E	SERPINA4_ENST00000298841.5_Silent_p.E220E|SERPINA4_ENST00000555095.1_Silent_p.E220E|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	220					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCCTGTGGGAGAAACCATTCA	0.517													16	121					0	0	0	0	A	95033317	G	A	95033317	2	1	211	1	0	0	0	0	0	0	0	1	14178	933	33	2		2	SERPINA4	14	95033317	Silent	SNP	G	TCGA-CR-7389-01A-11D-2012-08	74187423	95033317	12316223	100	38137											
GPR132	29933	broad.mit.edu	37	chr14	105517549	105517549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatggtccgtggccagcaCgtagataatggggtcagcca	10	7	15	9	2	1	1	1	0	0	1	2	2	2	2	3	5	2	2	3	5	3	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr14:105517549C>T	ENST00000329797.3	-	4	1836	c.925G>A	c.(925-927)Gtg>Atg	p.V309M	GPR132_ENST00000392585.2_Missense_Mutation_p.V300M|GPR132_ENST00000539291.2_Missense_Mutation_p.V309M	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	309					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GTGGCCAGCACGTAGATAATG	0.577													34	34					0	0	0	0	T	105517549	C	T	105517549	3	4	211	1	0	0	0	0	1	0	0	0	6691	536	19	1	221	1	GPR132	14	105517549	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	10484232	105517549	1831991	101	38138											
CAPN3	825	broad.mit.edu	37	chr15	42701996	42701996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcctcaggacatggagatCtgtgcagatgagctcaagaa	12	8	11	10	0	3	4	2	1	1	3	4	6	4	5	2	2	2	2	2	2	2	0			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:42701996C>T	ENST00000397163.3	+	18	2223	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	CAPN3_ENST00000397200.4_Silent_p.I156I|CAPN3_ENST00000397204.4_Silent_p.I3I|CAPN3_ENST00000357568.3_Silent_p.I662I|CAPN3_ENST00000569136.1_Silent_p.I3I|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000561817.1_Silent_p.I3I|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000318023.7_Silent_p.I662I|CAPN3_ENST00000337571.4_Silent_p.I3I|CAPN3_ENST00000349748.3_Silent_p.I576I|CAPN3_ENST00000356316.3_Silent_p.I575I	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	668	Domain IV.|EF-hand 1.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ACATGGAGATCTGTGCAGATG	0.542													29	111					0	0	0	0	T	42701996	C	T	42701996	2	4	211	1	0	0	0	0	0	0	0	1	2653	903	32	2		2	CAPN3	15	42701996	Silent	SNP	C	TCGA-CR-7389-01A-11D-2012-08		42701996	59829396	102	38139											
UNC13C	440279	broad.mit.edu	37	chr15	54305623	54305623	+	Frame_Shift_Del	DEL	G	G	-																															acggggagcgtactctacatGgcttaaaactgggagcttta																										TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:54305623delG	ENST00000545554.1	+	1	523	c.523delG	c.(523-525)gcfs	p.G175fs	UNC13C_ENST00000260323.11_Frame_Shift_Del_p.G175fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.G175fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	175					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TACTCTACATGGCTTAAAACT	0.473													26	87	---	---	---	---					-	54305623	G	-	54305623	7	5	211	1	0	1	0	1	0	0	0	0	17082	1348	47	0	525	0	UNC13C	15	54305623	Frame_Shift_Del	DEL	G	TCGA-CR-7389-01A-11D-2012-08	11603627	54305623	48225769	103	38140											
DPP8	54878	broad.mit.edu	37	chr15	65759441	65759441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaatgtgagtagccacGgtcagtcagccttgtcacct	10	9	11	11	1	3	2	3	1	0	1	3	2	3	2	3	1	2	2	3	1	3	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:65759441G>A	ENST00000341861.5	-	13	3285	c.1705C>T	c.(1705-1707)Cgt>Tgt	p.R569C	DPP8_ENST00000358939.4_Missense_Mutation_p.R553C|DPP8_ENST00000339244.5_Missense_Mutation_p.R396C|DPP8_ENST00000559233.1_Missense_Mutation_p.R569C|DPP8_ENST00000321118.7_Missense_Mutation_p.R569C|DPP8_ENST00000321147.6_Missense_Mutation_p.R569C|DPP8_ENST00000300141.6_Missense_Mutation_p.R553C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	569					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAGTAGCCACGGTCAGTCAGC	0.413													5	34					0	0	0	0	A	65759441	G	A	65759441	3	1	211	1	0	0	0	0	1	0	0	0	4768	1116	39	1	1023	1	DPP8	15	65759441	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	11453818	65759441	36771951	104	38141											
ACSBG1	23205	broad.mit.edu	37	chr15	78474320	78474320	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagactgaccttcagggcGtcgggttcggcaaagcaaac	10	6	14	11	3	1	2	1	1	0	1	3	2	1	2	1	4	2	4	1	4	2	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:78474320G>A	ENST00000258873.4	-	8	1267	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D	ACSBG1_ENST00000541759.1_Silent_p.D112D|ACSBG1_ENST00000560817.1_Silent_p.D112D	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	354					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCTTCAGGGCGTCGGGTTCGG	0.607													22	33					0	0	0	0	A	78474320	G	A	78474320	2	1	211	1	0	0	0	0	0	0	0	1	173	1136	40	1		1	ACSBG1	15	78474320	Silent	SNP	G	TCGA-CR-7389-01A-11D-2012-08	12714879	78474320	24057072	105	38142											
HPR	3250	broad.mit.edu	37	chr16	72110789	72110789	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccttctgtgtcggcatgTctaagtaccaggaagacacc	11	9	9	12	1	2	1	0	0	2	1	3	2	2	2	3	2	1	2	3	2	3	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr16:72110789T>C	ENST00000540303.2	+	5	888	c.856T>C	c.(856-858)Tct>Cct	p.S286P	HPR_ENST00000356967.5_Missense_Mutation_p.S286P|HPR_ENST00000561690.1_Intron|HPR_ENST00000228226.8_Missense_Mutation_p.S323P	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	286	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TGTCGGCATGTCTAAGTACCA	0.567													7	87					0	0	0	0	C	72110789	T	C	72110789	3	2	211	1	0	0	0	0	1	0	0	0	7387	1667	58	5	874	5	HPR	16	72110789	Missense_Mutation	SNP	T	TCGA-CR-7389-01A-11D-2012-08		72110789	18243964	106	38143											
DNAH9	1770	broad.mit.edu	37	chr17	11607668	11607668	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaccatgctgattggccAgctctccaagggagaccggc	9	8	11	13	1	2	2	1	1	1	1	3	3	2	2	4	3	2	2	4	3	2	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr17:11607668A>G	ENST00000262442.3	+	25	5368	c.5300A>G	c.(5299-5301)cAg>cGg	p.Q1767R	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1767R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1767	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGATTGGCCAGCTCTCCAAG	0.517													4	68					0	0	0	0	G	11607668	A	G	11607668	3	3	211	1	0	0	0	0	1	0	0	0	4644	188	7	5	5398	5	DNAH9	17	11607668	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08		11607668	69587542	107	38144											
SLC46A1	113235	broad.mit.edu	37	chr17	26731995	26731995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacggaacgtgaagagccgGgtggactttggctcctttaa	9	10	14	8	3	0	3	0	2	0	1	1	5	1	5	2	4	2	1	2	4	3	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr17:26731995G>A	ENST00000440501.1	-	2	815	c.720C>T	c.(718-720)acC>acT	p.T240T	SLC46A1_ENST00000321666.5_Silent_p.T240T|SLC46A1_ENST00000584729.1_5'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	240					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	TGAAGAGCCGGGTGGACTTTG	0.547													6	125					0	0	0	0	A	26731995	G	A	26731995	2	1	211	1	0	0	0	0	0	0	0	1	14732	1219	43	4		4	SLC46A1	17	26731995	Silent	SNP	G	TCGA-CR-7389-01A-11D-2012-08	15124327	26731995	54463215	108	38145											
COLEC12	81035	broad.mit.edu	37	chr18	347016	347016	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggttgttgaggttcatgatGaccacattatgagaatacat	13	13	10	5	0	1	4	1	4	0	1	1	5	1	4	1	2	1	3	1	2	3	5			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:347016G>A	ENST00000400256.3	-	5	813	c.606C>T	c.(604-606)gtC>gtT	p.V202V		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	202					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGTTCATGATGACCACATTAT	0.507													5	125					0	0	0	0	A	347016	G	A	347016	2	1	211	1	0	0	0	0	0	0	0	1	3742	1277	45	2		2	COLEC12	18	347016	Silent	SNP	G	TCGA-CR-7389-01A-11D-2012-08		347016	77730232	109	38146											
MC5R	4161	broad.mit.edu	37	chr18	13826399	13826399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacacatgttcctcctggCgcggactcacgtcaagcgga	9	8	10	14	4	2	0	2	0	0	0	4	2	4	2	2	3	2	1	2	3	2	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:13826399C>T	ENST00000324750.3	+	1	857	c.635C>T	c.(634-636)gCg>gTg	p.A212V		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	212					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TTCCTCCTGGCGCGGACTCAC	0.612													23	315					0	0	0	0	T	13826399	C	T	13826399	3	4	211	1	0	0	0	0	1	0	0	0	9436	768	27	1	637	1	MC5R	18	13826399	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	13479383	13826399	64250849	110	38147											
DCC	1630	broad.mit.edu	37	chr18	50278466	50278466	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactgcgcttcctctcagAaccttctgatgccgtcacaa	9	10	7	15	2	3	2	2	1	2	1	5	2	4	2	3	0	4	2	3	0	2	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:50278466A>C	ENST00000442544.2	+	2	750	c.134A>C	c.(133-135)gAa>gCa	p.E45A		NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	45	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTCCTCTCAGAACCTTCTGAT	0.483													3	31					0	0	0	0	C	50278466	A	C	50278466	3	2	211	1	0	0	0	0	1	0	0	0	4314	246	9	5	140	5	DCC	18	50278466	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08	36452067	50278466	27798782	111	38148											
KIAA1468	57614	broad.mit.edu	37	chr18	59928749	59928749	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttatgtttcaggaaggAgaacatggactggatgaaca	13	10	11	7	0	1	2	1	1	0	1	2	6	2	5	1	4	2	1	1	4	4	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:59928749A>G	ENST00000256858.6	+	16	2456	c.2208A>G	c.(2206-2208)ggA>ggG	p.G736G	KIAA1468_ENST00000398130.2_Silent_p.G736G			Q9P260	K1468_HUMAN	KIAA1468	736							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTCAGGAAGGAGAACATGGAC	0.393													9	44					0	0	0	0	G	59928749	A	G	59928749	2	3	211	1	0	0	0	0	0	0	0	1	8287	291	11	5		5	KIAA1468	18	59928749	Silent	SNP	A	TCGA-CR-7389-01A-11D-2012-08	9650283	59928749	18148499	112	38149											
MAST3	23031	broad.mit.edu	37	chr19	18235532	18235532	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaaggcattaagactgaCcttccacagtacatcattgg	12	9	9	11	0	1	2	1	1	0	1	2	2	2	2	3	3	1	2	3	3	3	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:18235532C>T	ENST00000262811.5	+	10	939	c.939C>T	c.(937-939)gaC>gaT	p.D313D		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	313							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TTAAGACTGACCTTCCACAGT	0.617													4	35					0	0	0	0	T	18235532	C	T	18235532	2	4	211	1	0	0	0	0	0	0	0	1	9395	506	18	4		4	MAST3	19	18235532	Silent	SNP	C	TCGA-CR-7389-01A-11D-2012-08		18235532	40893451	113	38150											
RASGRP4	115727	broad.mit.edu	37	chr19	38912750	38912750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgcacttggcggggccGgcctcgccctcctatttttc	2	10	13	16	5	0	0	0	0	0	0	3	0	1	0	4	5	0	1	4	5	1	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:38912750G>A	ENST00000454404.2	-	2	280	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	RASGRP4_ENST00000586305.1_Missense_Mutation_p.R23W|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R23W|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R23W|RASGRP4_ENST00000587738.1_Missense_Mutation_p.R23W|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R23W|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R23W	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	23					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGCGGGGCCGGCCTCGCCCT	0.627													20	33					0	0	0	0	A	38912750	G	A	38912750	3	1	211	1	0	0	0	0	1	0	0	0	13159	1115	39	1	2018	1	RASGRP4	19	38912750	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	20677218	38912750	20216233	114	38151											
MEGF8	1954	broad.mit.edu	37	chr19	42873017	42873017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgacatgtgggcgtccgggGgcctcctgggccttcctgtc	2	10	15	14	2	0	1	0	1	0	0	4	1	3	1	5	4	0	0	5	4	0	1			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:42873017G>A	ENST00000334370.4	+	36	6938	c.6303G>A	c.(6301-6303)ggG>ggA	p.G2101G	MEGF8_ENST00000251268.6_Silent_p.G2168G	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2168	PSI 6.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGCGTCCGGGGGCCTCCTGGG	0.647													36	63					0	0	0	0	A	42873017	G	A	42873017	2	1	211	1	0	0	0	0	0	0	0	1	9532	1219	43	4		4	MEGF8	19	42873017	Silent	SNP	G	TCGA-CR-7389-01A-11D-2012-08	3960267	42873017	16255966	115	38152											
ZNF227	7770	broad.mit.edu	37	chr19	44739552	44739552	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcatacaggagagaagtcTtatagatgcgacagttgcgg	14	9	12	6	2	2	2	1	0	1	2	2	5	2	3	0	2	3	1	0	2	5	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:44739552T>C	ENST00000313040.7	+	6	1174	c.969T>C	c.(967-969)tcT>tcC	p.S323S	ZNF227_ENST00000589005.1_Silent_p.S272S|ZNF227_ENST00000391961.2_Silent_p.S272S	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GAGAGAAGTCTTATAGATGCG	0.403													7	72					0	0	0	0	C	44739552	T	C	44739552	2	2	211	1	0	0	0	0	0	0	0	1	17876	1596	56	5		5	ZNF227	19	44739552	Silent	SNP	T	TCGA-CR-7389-01A-11D-2012-08	1866535	44739552	14389431	116	38153											
ZNF229	7772	broad.mit.edu	37	chr19	44933969	44933969	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcgtgttctgtctgacGccccgaccacgctcaagact	7	10	10	14	4	3	2	1	1	2	1	3	3	3	2	3	0	1	2	3	0	1	1			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:44933969G>A	ENST00000291187.4	-	6	1291	c.969C>T	c.(967-969)ggC>ggT	p.G323G	ZNF229_ENST00000588931.1_Silent_p.G329G|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TCTGTCTGACGCCCCGACCAC	0.507													7	77					0	0	0	0	A	44933969	G	A	44933969	2	1	211	1	0	0	0	0	0	0	0	1	17877	1074	38	1		1	ZNF229	19	44933969	Silent	SNP	G	TCGA-CR-7389-01A-11D-2012-08	194417	44933969	14195014	117	38154											
SAE1	10055	broad.mit.edu	37	chr19	47673077	47673077	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgccttttttccacagaaGgtggtcttctgccctgttaa	6	16	8	11	0	3	1	0	0	3	1	4	1	4	1	3	2	2	1	3	2	2	5			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:47673077G>C	ENST00000413379.3	+	6	732	c.630G>C	c.(628-630)aaG>aaC	p.K210N	SAE1_ENST00000598840.1_Missense_Mutation_p.K129N|SAE1_ENST00000270225.7_Missense_Mutation_p.K210N|SAE1_ENST00000540850.1_Missense_Mutation_p.K36N|SAE1_ENST00000392776.3_Missense_Mutation_p.K210N	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	210					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTCCACAGAAGGTGGTCTTCT	0.463													42	107					0	0	0	0	C	47673077	G	C	47673077	3	2	211	1	0	0	0	0	1	0	0	0	13890	991	35	4	652	4	SAE1	19	47673077	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	2739108	47673077	11455906	118	38155											
PPFIA3	8541	broad.mit.edu	37	chr19	49643025	49643025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgctctgcccgtcttgagaGaatgacccaggccttggcac	7	8	11	15	2	2	3	0	2	2	1	2	4	2	3	4	2	1	2	4	2	1	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:49643025G>C	ENST00000334186.4	+	17	2526	c.2177G>C	c.(2176-2178)aGa>aCa	p.R726T	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R726T	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	726						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CGTCTTGAGAGAATGACCCAG	0.652													3	57					0	0	0	0	C	49643025	G	C	49643025	3	2	211	1	0	0	0	0	1	0	0	0	12382	942	33	2	2239	2	PPFIA3	19	49643025	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	1969948	49643025	9485958	119	38156											
ZNF671	79891	broad.mit.edu	37	chr19	58234695	58234695	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtatacaaacacatcctcaAagaccacacagccctgcaac	17	5	4	15	0	1	1	1	0	0	1	2	1	2	1	3	0	5	2	3	0	5	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:58234695A>G	ENST00000317398.6	-	2	247	c.152T>C	c.(151-153)tTt>tCt	p.F51S	ZNF671_ENST00000596939.1_Intron|ZNF671_ENST00000594803.1_5'UTR|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACATCCTCAAAGACCACACA	0.453													33	128					0	0	0	0	G	58234695	A	G	58234695	3	3	211	1	0	0	0	0	1	0	0	0	18173	14	1	5	1464	5	ZNF671	19	58234695	Missense_Mutation	SNP	A	TCGA-CR-7389-01A-11D-2012-08	8591670	58234695	894288	120	38157											
HAO1	54363	broad.mit.edu	37	chr20	7886819	7886819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctctcaaaatgccctttgCaacaattggcaatgatgtca	13	11	6	11	0	2	1	2	1	1	0	3	1	2	1	2	1	3	2	2	1	5	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr20:7886819C>T	ENST00000378789.3	-	4	754	c.703G>A	c.(703-705)Gca>Aca	p.A235T		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	235	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATGCCCTTTGCAACAATTGGC	0.383													26	73					0	0	0	0	T	7886819	C	T	7886819	3	4	211	1	0	0	0	0	1	0	0	0	7001	710	25	4	429	4	HAO1	20	7886819	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08		7886819	55138701	121	38158											
CDC45	8318	broad.mit.edu	37	chr22	19467525	19467525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttccgcaaagagttctacGaggtggtccagagccaggtg	10	9	13	9	2	1	2	0	0	1	2	3	3	3	2	3	3	2	2	3	3	2	3			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:19467525G>A	ENST00000407835.1	+	2	290	c.34G>A	c.(34-36)Gag>Aag	p.E12K	CDC45_ENST00000404724.3_Missense_Mutation_p.E12K|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_Missense_Mutation_p.E12K|CDC45_ENST00000263201.1_Missense_Mutation_p.E12K			O75419	CDC45_HUMAN	cell division cycle 45	12					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						AGAGTTCTACGAGGTGGTCCA	0.692													6	149					0	0	0	0	A	19467525	G	A	19467525	3	1	211	1	0	0	0	0	1	0	0	0	3110	1059	37	1	36	1	CDC45	22	19467525	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08		19467525	31837041	122	38159											
CDC45	8318	broad.mit.edu	37	chr22	19471460	19471460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttcagggatgaagaggagGatgaagagcattcaggaaat	15	8	14	4	0	3	4	2	2	1	2	3	8	3	8	0	4	1	1	0	4	3	2	rs61752240	byFrequency	TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:19471460G>A	ENST00000407835.1	+	6	674	c.418G>A	c.(418-420)Gat>Aat	p.D140N	CDC45_ENST00000404724.3_Missense_Mutation_p.D94N|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_Missense_Mutation_p.D140N|CDC45_ENST00000263201.1_Missense_Mutation_p.D140N			O75419	CDC45_HUMAN	cell division cycle 45	140					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGAAGAGGAGGATGAAGAGCA	0.433													7	83					0	0	0	0	A	19471460	G	A	19471460	3	1	211	1	0	0	0	0	1	0	0	0	3110	1174	41	2	436	2	CDC45	22	19471460	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08	3935	19471460	31833106	123	38160											
CACNA1I	8911	broad.mit.edu	37	chr22	40066099	40066099	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctccttcctgctcatCgtcagcttctttgtgctcaa	5	17	5	14	1	6	0	4	0	2	0	9	0	7	0	2	0	3	3	2	0	1	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:40066099C>A	ENST00000336649.4	+	28	4269	c.4269C>A	c.(4267-4269)atC>atA	p.I1423I	CACNA1I_ENST00000402142.3_Silent_p.I1417I|CACNA1I_ENST00000400164.3_Silent_p.I1382I|CACNA1I_ENST00000407673.1_Silent_p.I1382I|CACNA1I_ENST00000401624.1_Silent_p.I1417I|CACNA1I_ENST00000404898.1_Silent_p.I1382I			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1417					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCCTGCTCATCGTCAGCTTCT	0.582													17	316					5.3912e-06	1.93782e-05	1	0	A	40066099	C	A	40066099	2	1	211	1	0	0	0	0	0	0	0	1	2571	874	31	3		3	CACNA1I	22	40066099	Silent	SNP	C	TCGA-CR-7389-01A-11D-2012-08	20594639	40066099	11238467	124	38161											
FAM118A	55007	broad.mit.edu	37	chr22	45728337	45728337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaacttataccgcaccaagtCctttctgtttgtgggctgtg	7	14	10	10	1	1	0	0	0	1	0	2	1	2	0	3	1	2	3	3	1	4	4			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:45728337C>G	ENST00000216214.3	+	7	1517	c.683C>G	c.(682-684)tCc>tGc	p.S228C	FAM118A_ENST00000405548.3_Missense_Mutation_p.S46C|FAM118A_ENST00000441876.2_Missense_Mutation_p.S228C	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	228						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGCACCAAGTCCTTTCTGTTT	0.463													13	188					0	0	0	0	G	45728337	C	G	45728337	3	3	211	1	0	0	0	0	1	0	0	0	5452	855	30	2	701	2	FAM118A	22	45728337	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	5662238	45728337	5576229	125	38162											
TTLL8	164714	broad.mit.edu	37	chr22	50470327	50470327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaagctgttcttgcgaggctCcacgtggtcctgggccacct	6	10	12	13	2	1	0	0	0	1	0	3	1	3	0	4	3	2	3	4	3	1	2			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:50470327C>T	ENST00000266182.6	-	11	1494	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	TTLL8_ENST00000440475.1_Missense_Mutation_p.E479K					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TTGCGAGGCTCCACGTGGTCC	0.637													6	40					0	0	0	0	T	50470327	C	T	50470327	3	4	211	1	0	0	0	0	1	0	0	0	16829	864	30	2	1024	2	TTLL8	22	50470327	Missense_Mutation	SNP	C	TCGA-CR-7389-01A-11D-2012-08	4741990	50470327	834239	126	38163											
NAP1L3	4675	broad.mit.edu	37	chrX	92927421	92927421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttcctagctcttttaaGatctacactgtcctgaagcc	8	14	5	14	0	2	2	0	1	2	1	5	2	5	2	4	0	3	1	4	0	4	5			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chrX:92927421G>T	ENST00000373079.3	-	1	1146	c.883C>A	c.(883-885)Ctt>Att	p.L295I	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	295					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GCTCTTTTAAGATCTACACTG	0.433													32	19					7.16923e-06	2.55902e-05	1	0	T	92927421	G	T	92927421	3	4	211	1	0	0	0	0	1	0	0	0	10228	942	33	2	641	2	NAP1L3	23	92927421	Missense_Mutation	SNP	G	TCGA-CR-7389-01A-11D-2012-08		92927421	62343139	127	38164											
PRDM16	63976	broad.mit.edu	37	chr1	3319474	3319474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctctacgagggcctggctGaggagctcaagcccgagggc	7	5	16	13	3	2	1	1	1	1	0	2	4	2	2	2	4	3	3	2	4	2	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:3319474G>A	ENST00000378398.3	+	7	881	c.799G>A	c.(799-801)Gag>Aag	p.E267K	PRDM16_ENST00000514189.1_Missense_Mutation_p.E267K|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.E267K|PRDM16_ENST00000442529.2_Missense_Mutation_p.E266K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E266K|PRDM16_ENST00000270722.5_Missense_Mutation_p.E266K|PRDM16_ENST00000378391.2_Missense_Mutation_p.E266K			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	266					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGGCCTGGCTGAGGAGCTCAA	0.637			T	EVI1	"MDS, AML"								17	60					0	0	0	0	A	3319474	G	A	3319474	3	1	212	1	0	0	0	0	1	0	0	0	12537	1291	45	2	818	2	PRDM16	1	3319474	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08		3319474	245931147	1	38165											
PER3	8863	broad.mit.edu	37	chr1	7848168	7848168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacatttctgaacaggctGctttgatcctgaatcgtaag	10	13	9	9	1	1	3	0	3	1	0	3	3	2	3	1	1	3	4	1	1	3	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:7848168G>T	ENST00000377532.3	+	4	678	c.454G>T	c.(454-456)Gct>Tct	p.A152S	PER3_ENST00000377541.1_Missense_Mutation_p.A152S|PER3_ENST00000361923.2_Missense_Mutation_p.A152S			P56645	PER3_HUMAN	period circadian clock 3	152	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TGAACAGGCTGCTTTGATCCT	0.413													24	107					2.48779e-11	1.05408e-10	1	0	T	7848168	G	T	7848168	3	4	212	1	0	0	0	0	1	0	0	0	11802	1319	46	4	468	4	PER3	1	7848168	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	4528694	7848168	241402453	2	38166											
TESK2	10420	broad.mit.edu	37	chr1	45923296	45923296	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgaaatcatccaaacgCgtcagtctggaaaaggcact	14	7	10	10	2	3	1	2	1	1	0	4	2	4	2	1	3	1	1	1	3	4	0			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:45923296C>T	ENST00000372086.3	-	2	562	c.162G>A	c.(160-162)acG>acA	p.T54T	TESK2_ENST00000341771.6_Silent_p.T54T|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Silent_p.T54T|TESK2_ENST00000538496.1_Intron|TESK2_ENST00000451835.2_Silent_p.T54T	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	54					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CATCCAAACGCGTCAGTCTGG	0.453													14	59					0	0	0	0	T	45923296	C	T	45923296	2	4	212	1	0	0	0	0	0	0	0	1	15862	755	27	1		1	TESK2	1	45923296	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	38075128	45923296	203327325	3	38167											
ZFYVE9	9372	broad.mit.edu	37	chr1	52703916	52703916	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctcatcccagggaacagAtggatgtcctgctgttaaaa	13	10	9	9	0	1	1	1	0	1	1	4	3	3	3	2	2	2	2	2	2	4	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:52703916A>T	ENST00000287727.3	+	4	999	c.827A>T	c.(826-828)gAt>gTt	p.D276V	ZFYVE9_ENST00000361625.1_Missense_Mutation_p.D276V|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D276V|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D276V	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	276					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CAGGGAACAGATGGATGTCCT	0.443													40	194					0	0	0	0	T	52703916	A	T	52703916	3	4	212	1	0	0	0	0	1	0	0	0	17766	333	12	5	833	5	ZFYVE9	1	52703916	Missense_Mutation	SNP	A	TCGA-CR-7390-01A-11D-2012-08	6780620	52703916	196546705	4	38168											
DOCK7	85440	broad.mit.edu	37	chr1	63005304	63005304	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagaatgcaaggcttgtaTtgagtctctcaaccatttct	12	13	8	8	0	3	2	1	1	2	1	4	3	3	2	1	1	2	3	1	1	5	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:63005304T>C	ENST00000251157.5	-	27	3245	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S	DOCK7_ENST00000340370.5_Missense_Mutation_p.N1040S	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1071					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAGGCTTGTATTGAGTCTCTC	0.343													17	77					0	0	0	0	C	63005304	T	C	63005304	3	2	212	1	0	0	0	0	1	0	0	0	4728	1493	52	5	3306	5	DOCK7	1	63005304	Missense_Mutation	SNP	T	TCGA-CR-7390-01A-11D-2012-08	10301388	63005304	186245317	5	38169											
RABGGTB	5876	broad.mit.edu	37	chr1	76257189	76257189	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaaaggcaatcgaatttgTtttatcctgtatgaactttg	12	15	9	5	1	0	1	0	1	0	0	2	3	1	2	1	2	1	3	1	2	7	5			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:76257189T>C	ENST00000319942.3	+	6	583	c.512T>C	c.(511-513)gTt>gCt	p.V171A	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	171					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						ATCGAATTTGTTTTATCCTGT	0.383													19	70					0	0	0	0	C	76257189	T	C	76257189	3	2	212	1	0	0	0	0	1	0	0	0	13050	1725	60	5	534	5	RABGGTB	1	76257189	Missense_Mutation	SNP	T	TCGA-CR-7390-01A-11D-2012-08	13251885	76257189	172993432	6	38170											
NEXN	91624	broad.mit.edu	37	chr1	78395180	78395180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaggcgtttgctgaagcaagGagaaatatggtaagacagaa	17	7	13	4	1	0	4	0	1	0	3	0	5	0	4	0	3	2	4	0	3	7	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:78395180G>C	ENST00000330010.8	+	8	1149	c.852G>C	c.(850-852)agG>agC	p.R284S	NEXN_ENST00000457030.1_Missense_Mutation_p.R334S|NEXN_ENST00000334785.7_Missense_Mutation_p.R348S	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	348	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CTGAAGCAAGGAGAAATATGG	0.353													14	63					0	0	0	0	C	78395180	G	C	78395180	3	2	212	1	0	0	0	0	1	0	0	0	10425	1165	41	2	1074	2	NEXN	1	78395180	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	2137991	78395180	170855441	7	38171											
COL11A1	1301	broad.mit.edu	37	chr1	103488537	103488537	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atattcttcagtaaatatttCttcaactggatttggctatt	11	19	5	6	0	4	0	2	0	2	0	4	1	4	1	0	2	1	2	0	2	6	10			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:103488537C>G	ENST00000358392.2	-	8	1359	c.1042G>C	c.(1042-1044)Gaa>Caa	p.E348Q	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.E336Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.E297Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	336	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTAAATATTTCTTCAACTGGA	0.318													11	42					0	0	0	0	G	103488537	C	G	103488537	3	3	212	1	0	0	0	0	1	0	0	0	3697	922	32	2	4654	2	COL11A1	1	103488537	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	25093357	103488537	145762084	8	38172											
RBM15	64783	broad.mit.edu	37	chr1	110882111	110882111	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgtgaaacgagcgcgggGcggcgggttactcagctccg	6	7	17	11	6	1	1	1	1	0	0	2	2	2	1	1	4	4	2	1	4	2	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:110882111G>A	ENST00000369784.3	+	1	984	c.84G>A	c.(82-84)ggG>ggA	p.G28G	RBM15_ENST00000602849.1_Silent_p.G28G|RBM15_ENST00000487146.2_Silent_p.G28G	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	28					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGAGCGCGGGGCGGCGGGTTA	0.662			T	MKL1	acute megakaryocytic leukemia								6	22					0	0	0	0	A	110882111	G	A	110882111	2	1	212	1	0	0	0	0	0	0	0	1	13198	1190	42	4		4	RBM15	1	110882111	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	7393574	110882111	138368510	9	38173											
SETDB1	9869	broad.mit.edu	37	chr1	150923394	150923394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcctttttactatattttgGacatcacttatgggaaggaa	12	15	8	6	0	1	0	1	0	0	0	1	3	1	3	1	3	2	0	1	3	6	8			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:150923394G>A	ENST00000271640.5	+	13	2231	c.2041G>A	c.(2041-2043)Gac>Aac	p.D681N	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.D681N	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	681					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTATATTTTGGACATCACTTA	0.478													14	80					0	0	0	0	A	150923394	G	A	150923394	3	1	212	1	0	0	0	0	1	0	0	0	14225	1174	41	2	2087	2	SETDB1	1	150923394	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	40041283	150923394	98327227	10	38174											
UBAP2L	9898	broad.mit.edu	37	chr1	154229858	154229858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctcctggggtcccgcCgttgttgcctaatccgtata	4	12	9	16	3	0	0	0	0	0	0	4	0	4	0	7	2	1	3	7	2	3	5			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:154229858C>T	ENST00000428931.1	+	20	2557	c.2390C>T	c.(2389-2391)cCg>cTg	p.P797L	UBAP2L_ENST00000361546.2_Missense_Mutation_p.P797L|UBAP2L_ENST00000343815.6_Missense_Mutation_p.P797L|UBAP2L_ENST00000271877.7_Missense_Mutation_p.P808L	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	797					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGGTCCCGCCGTTGTTGCCT	0.473													14	77					0	0	0	0	T	154229858	C	T	154229858	3	4	212	1	0	0	0	0	1	0	0	0	16934	652	23	1	2464	1	UBAP2L	1	154229858	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	3306464	154229858	95020763	11	38175											
FLAD1	80308	broad.mit.edu	37	chr1	154962050	154962050	+	Frame_Shift_Del	DEL	A	A	-																															tggcagggtcttctttggggAaaaaggtggcaggtgcccta																										TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:154962050delA	ENST00000368433.1	+	3	1475	c.1132delA	c.(1132-1134)aafs	p.K379fs	FLAD1_ENST00000315144.10_Frame_Shift_Del_p.K282fs|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368432.1_Frame_Shift_Del_p.K282fs|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000292180.3_Frame_Shift_Del_p.K379fs|FLAD1_ENST00000368428.1_5'UTR			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	379					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	p.K378E(3)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTCTTTGGGGAAAAAGGTGGC	0.567													7	167	---	---	---	---					-	154962050	A	-	154962050	7	5	212	1	0	1	0	1	0	0	0	0	5965	247	9	0	1282	0	FLAD1	1	154962050	Frame_Shift_Del	DEL	A	TCGA-CR-7390-01A-11D-2012-08	732192	154962050	94288571	12	38176											
FCRL1	115350	broad.mit.edu	37	chr1	157773648	157773648	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcactgtgcacatttatCtgggatctcctgctcctcaa	8	13	6	14	0	4	0	2	0	2	0	6	1	5	1	2	1	2	2	2	1	2	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:157773648C>T	ENST00000358292.3	-	3	357	c.306G>A	c.(304-306)caG>caA	p.Q102Q	FCRL1_ENST00000491942.1_Silent_p.Q102Q|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Silent_p.Q102Q	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	102	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCACATTTATCTGGGATCTCC	0.527													16	76					0	0	0	0	T	157773648	C	T	157773648	2	4	212	1	0	0	0	0	0	0	0	1	5839	912	32	2		2	FCRL1	1	157773648	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	2811598	157773648	91476973	13	38177											
ABL2	27	broad.mit.edu	37	chr1	179077340	179077340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagagctgccttctttcctCcttcctgtgtttctgatgtg	3	17	8	13	0	2	2	0	1	2	1	5	2	5	2	5	0	2	2	5	0	0	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:179077340C>T	ENST00000502732.1	-	12	3265	c.3062G>A	c.(3061-3063)gGa>gAa	p.G1021E	ABL2_ENST00000408940.3_Missense_Mutation_p.G985E|ABL2_ENST00000507173.1_Missense_Mutation_p.G897E|ABL2_ENST00000367623.4_Missense_Mutation_p.G1000E|ABL2_ENST00000511413.1_Missense_Mutation_p.G918E|ABL2_ENST00000512653.1_Missense_Mutation_p.G1006E|ABL2_ENST00000504405.1_Missense_Mutation_p.G882E|ABL2_ENST00000344730.3_Missense_Mutation_p.G903E	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1021	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTTCTTTCCTCCTTCCTGTGT	0.567			T	ETV6	AML								14	120					0	0	0	0	T	179077340	C	T	179077340	3	4	212	1	0	0	0	0	1	0	0	0	93	855	30	2	490	2	ABL2	1	179077340	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	21303692	179077340	70173281	14	38178											
MR1	3140	broad.mit.edu	37	chr1	181021478	181021478	+	Frame_Shift_Del	DEL	A	A	-																															aaatttacatgacatggatgAaaaacggggaagaaattgtc																										TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:181021478delA	ENST00000367580.5	+	4	717	c.712delA	c.(712-714)aafs	p.K238fs	MR1_ENST00000282990.6_Intron|MR1_ENST00000367579.3_Frame_Shift_Del_p.K193fs|MR1_ENST00000438435.2_Intron|MR1_ENST00000434571.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	238	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GACATGGATGAAAAACGGGGA	0.443													8	60	---	---	---	---					-	181021478	A	-	181021478	7	5	212	1	0	1	0	1	0	0	0	0	9822	247	9	0	726	0	MR1	1	181021478	Frame_Shift_Del	DEL	A	TCGA-CR-7390-01A-11D-2012-08	1944138	181021478	68229143	15	38179											
HMCN1	83872	broad.mit.edu	37	chr1	185902690	185902690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcacacagagccccctcCggtcatccaagtgcctaaca	11	8	6	16	1	2	1	2	0	0	1	4	1	4	1	5	1	3	0	5	1	2	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:185902690C>T	ENST00000271588.4	+	11	1791	c.1562C>T	c.(1561-1563)cCg>cTg	p.P521L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P521L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	521	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGCCCCCTCCGGTCATCCAA	0.413													13	29					0	0	0	0	T	185902690	C	T	185902690	3	4	212	1	0	0	0	0	1	0	0	0	7270	652	23	1	1604	1	HMCN1	1	185902690	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	4881212	185902690	63347931	16	38180											
TMEM183A	92703	broad.mit.edu	37	chr1	202984173	202984173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttttggaccaggttgtaccGaaggtgcgaccacagagagc	10	8	13	10	2	0	1	0	0	0	1	0	5	0	2	3	3	3	2	3	3	2	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:202984173G>A	ENST00000367242.3	+	4	604	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			transmembrane protein 183A											endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			AGGTTGTACCGAAGGTGCGAC	0.463													7	43					0	0	0	0	A	202984173	G	A	202984173	3	1	212	1	0	0	0	0	1	0	0	0	16196	1058	37	1	538	1	TMEM183A	1	202984173	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	17081483	202984173	46266448	17	38181											
USH2A	7399	broad.mit.edu	37	chr1	216497666	216497666	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttccgttggttgtggaCtaaagaactgaatgataata	13	15	9	4	1	0	3	0	2	0	1	1	4	1	4	1	2	1	2	1	2	7	7			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:216497666C>G	ENST00000366943.2	-	7	1558	c.1172G>C	c.(1171-1173)aGt>aCt	p.S391T	USH2A_ENST00000307340.3_Missense_Mutation_p.S391T|USH2A_ENST00000366942.3_Missense_Mutation_p.S391T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	391	Laminin N-terminal.		S -> I (in USH2A; uncertain pathogenicity).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTTGTGGACTAAAGAACTG	0.318										HNSCC(13;0.011)			4	24					0	0	0	0	G	216497666	C	G	216497666	3	3	212	1	0	0	0	0	1	0	0	0	17132	565	20	4	14714	4	USH2A	1	216497666	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	13513493	216497666	32752955	18	38182											
OR2T4	127074	broad.mit.edu	37	chr1	248525032	248525032	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatcctgttgggactcttCagacaatccaaacatccagc	11	11	6	13	0	3	1	2	0	1	1	6	2	6	2	3	1	2	1	3	1	2	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:248525032C>G	ENST00000366475.1	+	1	150	c.150C>G	c.(148-150)ttC>ttG	p.F50L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGACTCTTCAGACAATCCA	0.468													15	125					0	0	0	0	G	248525032	C	G	248525032	3	3	212	1	0	0	0	0	1	0	0	0	11098	825	29	2	152	2	OR2T4	1	248525032	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	32027366	248525032	725589	19	38183											
ITSN2	50618	broad.mit.edu	37	chr2	24432884	24432884	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggccccaggcagttggtgaGagagttgaaaataagttgct	11	9	15	6	0	0	3	0	2	0	1	0	4	0	3	2	3	1	5	2	3	3	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:24432884G>C	ENST00000355123.4	-	35	4719	c.4276C>G	c.(4276-4278)Ctc>Gtc	p.L1426V	ITSN2_ENST00000361999.3_Missense_Mutation_p.L1399V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1426					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTTGGTGAGAGAGTTGAAA	0.478													32	106					0	0	0	0	C	24432884	G	C	24432884	3	2	212	1	0	0	0	0	1	0	0	0	7980	942	33	2	841	2	ITSN2	2	24432884	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08		24432884	218766489	20	38184											
NCOA1	8648	broad.mit.edu	37	chr2	24929454	24929454	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagggagcacagtgggctttCtcctcaagatgacactaatt	11	11	10	9	0	2	2	1	1	1	1	3	3	2	3	1	2	1	2	1	2	3	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:24929454C>G	ENST00000405141.1	+	14	1826	c.1115C>G	c.(1114-1116)tCt>tGt	p.S372C	NCOA1_ENST00000407230.1_Missense_Mutation_p.S221C|NCOA1_ENST00000406961.1_Missense_Mutation_p.S372C|NCOA1_ENST00000348332.3_Missense_Mutation_p.S372C|NCOA1_ENST00000538539.1_Missense_Mutation_p.S372C|NCOA1_ENST00000395856.3_Missense_Mutation_p.S372C|NCOA1_ENST00000288599.5_Missense_Mutation_p.S372C			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	372	Interaction with STAT3.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGGGCTTTCTCCTCAAGAT	0.383			T	PAX3	alveolar rhadomyosarcoma								23	36					0	0	0	0	G	24929454	C	G	24929454	3	3	212	1	0	0	0	0	1	0	0	0	10298	913	32	2	1149	2	NCOA1	2	24929454	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	496570	24929454	218269919	21	38185											
ALK	238	broad.mit.edu	37	chr2	29606696	29606696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaaatgggttgtctggaCgcccgattcttccctggagc	6	11	12	12	3	2	0	0	0	2	0	4	4	3	2	2	3	1	1	2	3	1	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:29606696C>T	ENST00000389048.3	-	5	2090	c.1184G>A	c.(1183-1185)cGt>cAt	p.R395H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	395	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTTGTCTGGACGCCCGATTCT	0.493			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				10	103					0	0	0	0	T	29606696	C	T	29606696	3	4	212	1	0	0	0	0	1	0	0	0	525	536	19	1	3778	1	ALK	2	29606696	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	4677242	29606696	213592677	22	38186											
WBP1	23559	broad.mit.edu	37	chr2	74687380	74687380	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccttcaagcccccagcctacGaggatgtggttcaccgccca	8	7	9	17	2	2	0	2	0	0	0	2	2	2	1	6	2	3	1	6	2	2	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:74687380G>C	ENST00000393972.3	+	5	687	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	WBP1_ENST00000233615.2_Missense_Mutation_p.E128Q|WBP1_ENST00000409737.1_Missense_Mutation_p.E125Q|WBP1_ENST00000494741.1_3'UTR			Q96G27	WBP1_HUMAN	WW domain binding protein 1	128	Poly-Ser.						WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCCAGCCTACGAGGATGTGGT	0.552													46	146					0	0	0	0	C	74687380	G	C	74687380	3	2	212	1	0	0	0	0	1	0	0	0	17353	1059	37	3	396	3	WBP1	2	74687380	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	45080684	74687380	168511993	23	38187											
LMAN2L	81562	broad.mit.edu	37	chr2	97377727	97377727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcatagctgagggagccGttgttcaccatggctgagat	9	11	13	8	1	2	3	2	3	0	1	2	5	2	4	2	2	2	4	2	2	1	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:97377727G>A	ENST00000264963.4	-	5	565	c.543C>T	c.(541-543)aaC>aaT	p.N181N	LMAN2L_ENST00000426463.2_Silent_p.N47N|LMAN2L_ENST00000377079.4_Silent_p.N192N|LMAN2L_ENST00000537039.1_Silent_p.N43N|LMAN2L_ENST00000534882.1_Silent_p.N36N	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	181	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TGAGGGAGCCGTTGTTCACCA	0.552													16	121					0	0	0	0	A	97377727	G	A	97377727	2	1	212	1	0	0	0	0	0	0	0	1	8894	1136	40	1		1	LMAN2L	2	97377727	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	22690347	97377727	145821646	24	38188											
EN1	2019	broad.mit.edu	37	chr2	119600538	119600538	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgctctcgtctttgtcctgGaccgtggtggtggagtggtt	2	15	15	9	3	2	0	0	0	2	0	5	2	3	2	2	5	0	2	2	5	0	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:119600538G>T	ENST00000295206.6	-	2	1665	c.1155C>A	c.(1153-1155)gtC>gtA	p.V385V		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	385					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CTTTGTCCTGGACCGTGGTGG	0.692													8	41					1.12685e-05	4.44076e-05	1	0	T	119600538	G	T	119600538	2	4	212	1	0	0	0	0	0	0	0	1	5147	1161	41	2		2	EN1	2	119600538	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	22222811	119600538	123598835	25	38189											
LY75	4065	broad.mit.edu	37	chr2	160673380	160673380	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttacaatatcttccagaaaGagctggccattttggttgtg	10	15	9	7	0	1	2	0	0	1	2	2	2	2	2	2	2	2	2	2	2	4	7			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:160673380G>C	ENST00000263636.4	-	30	4344	c.4317C>G	c.(4315-4317)ctC>ctG	p.L1439L	LY75_ENST00000553424.1_Silent_p.L1439L|LY75-CD302_ENST00000504764.1_Silent_p.L1439L|LY75-CD302_ENST00000505052.1_Silent_p.L1439L|LY75_ENST00000554112.1_Silent_p.L1439L	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTTCCAGAAAGAGCTGGCCAT	0.393													15	84					0	0	0	0	C	160673380	G	C	160673380	2	2	212	1	0	0	0	0	0	0	0	1	9164	929	33	2		2	LY75	2	160673380	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	41072842	160673380	82525993	26	38190											
GALNT3	2591	broad.mit.edu	37	chr2	166621528	166621528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctattatgacactggtggtgGgcaggggagggcagcgctta	8	9	17	7	1	0	1	0	1	0	0	0	2	0	2	0	6	1	3	0	6	3	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:166621528G>A	ENST00000392701.3	-	3	1329	c.554C>T	c.(553-555)cCc>cTc	p.P185L		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	185	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ACTGGTGGTGGGCAGGGGAGG	0.383													27	25					0	0	0	0	A	166621528	G	A	166621528	3	1	212	1	0	0	0	0	1	0	0	0	6263	1232	43	4	1383	4	GALNT3	2	166621528	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	5948148	166621528	76577845	27	38191											
TTN	7273	broad.mit.edu	37	chr2	179539081	179539081	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttcctctatgctaggTggttcttctgggatttcttc	5	18	8	10	0	5	0	1	0	4	0	7	1	6	1	1	3	2	2	1	3	3	7			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:179539081T>G	ENST00000589042.1	-	151	34892	c.34668A>C	c.(34666-34668)ccA>ccC	p.P11556P	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.P11182P|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.P10255P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11319	Glu-rich.|Pro-rich.						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)			CTATGCTAGGTGGTTCTTCTG	0.343													4	6					0	0	0	0	G	179539081	T	G	179539081	2	3	212	1	0	0	0	0	0	0	0	1	16831	1683	59	5		5	TTN	2	179539081	Silent	SNP	T	TCGA-CR-7390-01A-11D-2012-08	12917553	179539081	63660292	28	38192											
EPHA4	2043	broad.mit.edu	37	chr2	222298932	222298932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccacataacgattccatagCtccatacatcacttgctgat	12	11	4	14	1	1	1	1	1	0	0	3	2	3	1	3	0	4	2	3	0	3	5			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:222298932C>T	ENST00000281821.2	-	14	2467	c.2426G>A	c.(2425-2427)aGc>aAc	p.S809N	EPHA4_ENST00000409938.1_Missense_Mutation_p.S809N|EPHA4_ENST00000409854.1_Missense_Mutation_p.S809N|EPHA4_ENST00000392071.4_Missense_Mutation_p.S758N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	809	Protein kinase.					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)		GATTCCATAGCTCCATACATC	0.433													34	57					0	0	0	0	T	222298932	C	T	222298932	3	4	212	1	0	0	0	0	1	0	0	0	5207	797	28	4	550	4	EPHA4	2	222298932	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	42759851	222298932	20900441	29	38193											
IL17RE	132014	broad.mit.edu	37	chr3	9944734	9944734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actggaacacccgctgtcctCtggcctcccacacggtaagg	8	7	10	16	2	1	0	0	0	1	0	3	1	3	1	4	4	1	2	4	4	2	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:9944734C>G	ENST00000454190.2	+	1	203	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V	IL17RE_ENST00000295980.3_Missense_Mutation_p.L40V|IL17RE_ENST00000383814.3_Missense_Mutation_p.L40V|IL17RE_ENST00000421412.1_Missense_Mutation_p.L73V	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	40						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CCGCTGTCCTCTGGCCTCCCA	0.637													14	45					0	0	0	0	G	9944734	C	G	9944734	3	3	212	1	0	0	0	0	1	0	0	0	7696	912	32	2	120	2	IL17RE	3	9944734	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08		9944734	188077696	30	38194											
WDR52	55779	broad.mit.edu	37	chr3	113098399	113098399	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcaatttctattaatctCttttaaaataaacattaagt	15	20	1	5	0	3	0	1	0	2	0	4	0	3	0	0	0	1	0	0	0	8	9			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:113098399C>G	ENST00000393845.2	-	17	2119		c.e17-1		WDR52_ENST00000295868.2_Splice_Site	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52											breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTATTAATCTCTTTTAAAATA	0.343													7	61					0	0	0	0	G	113098399	C	G	113098399	5	3	212	1	0	0	0	0	0	0	1	0	17400	927	32	2	3603	2	WDR52	3	113098399	Splice_Site	SNP	C	TCGA-CR-7390-01A-11D-2012-08	103153665	113098399	84924031	31	38195											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133482	119133482	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacattgcccagcatggcctGgagatggtggagccctggga	8	7	16	10	0	0	1	0	0	0	1	0	5	0	3	3	5	3	1	3	5	0	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:119133482G>A	ENST00000264245.4	+	12	3238	c.2706G>A	c.(2704-2706)ctG>ctA	p.L902L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	902					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCATGGCCTGGAGATGGTGG	0.572													36	141					0	0	0	0	A	119133482	G	A	119133482	2	1	212	1	0	0	0	0	0	0	0	1	882	1335	47	4		4	ARHGAP31	3	119133482	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	6035083	119133482	78888948	32	38196											
ALDH1L1	10840	broad.mit.edu	37	chr3	125828902	125828902	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgattctgcggcccgtggtcGgtgtccctgtccagcgggtt	2	12	15	12	4	1	1	0	1	1	0	4	1	3	1	3	4	2	1	3	4	0	2	rs141918591		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:125828902G>A	ENST00000393434.2	-	20	2581	c.2232C>T	c.(2230-2232)acC>acT	p.T744T	ALDH1L1_ENST00000273450.3_Silent_p.T754T|ALDH1L1_ENST00000472186.1_Silent_p.T744T|ALDH1L1_ENST00000452905.2_Silent_p.T643T|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	744	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.T744T(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCCCGTGGTCGGTGTCCCTGT	0.597													10	86					0	0	0	0	A	125828902	G	A	125828902	2	1	212	1	0	0	0	0	0	0	0	1	494	1103	39	1		1	ALDH1L1	3	125828902	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	6695420	125828902	72193528	33	38197											
ALDH1L1	10840	broad.mit.edu	37	chr3	125833454	125833454	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagatgatgaggggtgacttCccgcccagttccagggacac	10	7	13	11	1	0	4	0	3	0	1	2	5	2	5	3	3	0	1	3	3	1	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:125833454C>T	ENST00000393434.2	-	18	2377	c.2028G>A	c.(2026-2028)ggG>ggA	p.G676G	ALDH1L1_ENST00000472186.1_Silent_p.G676G|ALDH1L1_ENST00000273450.3_Silent_p.G686G|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000452905.2_Silent_p.G575G	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	676	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGGGTGACTTCCCGCCCAGTT	0.617													6	194					0	0	0	0	T	125833454	C	T	125833454	2	4	212	1	0	0	0	0	0	0	0	1	494	842	30	2		2	ALDH1L1	3	125833454	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	4552	125833454	72188976	34	38198											
ZIC4	84107	broad.mit.edu	37	chr3	147114162	147114162	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtccattcaaaggacggctGggggaggcctggggaggctc	8	6	18	9	1	1	0	1	0	0	0	3	3	2	3	2	8	0	2	2	8	1	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:147114162G>C	ENST00000383075.3	-	3	677	c.165C>G	c.(163-165)ccC>ccG	p.P55P	ZIC4_ENST00000484399.1_Silent_p.P55P|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Silent_p.P105P|ZIC4_ENST00000473123.1_Silent_p.P55P|ZIC4_ENST00000425731.3_Silent_p.P93P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	55						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGGACGGCTGGGGGAGGCCT	0.721													7	33					0	0	0	0	C	147114162	G	C	147114162	2	2	212	1	0	0	0	0	0	0	0	1	17776	1335	47	4		4	ZIC4	3	147114162	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	21280708	147114162	50908268	35	38199											
BCHE	590	broad.mit.edu	37	chr3	165547586	165547586	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacccaaggcctcacggtaGttttcaggtctctgatcatc	8	12	8	13	1	5	1	4	1	1	0	7	1	5	1	2	3	0	2	2	3	2	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:165547586G>A	ENST00000264381.3	-	2	1402	c.1236C>T	c.(1234-1236)aaC>aaT	p.N412N	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	412					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CCTCACGGTAGTTTTCAGGTC	0.408													70	35					0	0	0	0	A	165547586	G	A	165547586	2	1	212	1	0	0	0	0	0	0	0	1	1362	1020	36	4		4	BCHE	3	165547586	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	18433424	165547586	32474844	36	38200											
LRRC31	79782	broad.mit.edu	37	chr3	169569457	169569457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagttgttgataactaatGacttcaatgctggtaaaaat	15	13	7	6	0	1	2	1	2	0	0	1	2	1	2	0	1	2	4	0	1	6	6			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:169569457G>A	ENST00000316428.5	-	7	1166	c.1109C>T	c.(1108-1110)tCa>tTa	p.S370L	LRRC31_ENST00000523069.1_Missense_Mutation_p.S370L|LRRC31_ENST00000264676.5_Missense_Mutation_p.S314L	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	370										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GATAACTAATGACTTCAATGC	0.413													9	78					0	0	0	0	A	169569457	G	A	169569457	3	1	212	1	0	0	0	0	1	0	0	0	9050	1294	45	2	561	2	LRRC31	3	169569457	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	4021871	169569457	28452973	37	38201											
ATP11B	23200	broad.mit.edu	37	chr3	182575744	182575745	+	Frame_Shift_Ins	INS	-	-	T																															gcactatcttgaagtatacaINStggcaagctgaagaaaaatg																										TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:182575744_182575745insT	ENST00000323116.5	+	11	1190_1191	c.930_931insT	c.(928-933)acggcafs	p.A311fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	311					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGAAGTATACATGGCAAGCTGA	0.312													23	79	---	---	---	---					T	182575745	-	T	182575744	7	5	212	1	0	1	1	0	0	0	0	0	1124	204	8	0	972	0	ATP11B	3	182575744	Frame_Shift_Ins	INS	-	TCGA-CR-7390-01A-11D-2012-08	13006287	182575744	15446686	38	38202											
PI4K2B	55300	broad.mit.edu	37	chr4	25258233	25258233	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaatcaagaggcaaaaaGtatgctttagaaaaagtgcc	19	7	9	6	0	1	2	1	0	0	2	1	2	1	2	1	1	2	4	1	1	9	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:25258233G>A	ENST00000264864.6	+	4	882	c.693G>A	c.(691-693)aaG>aaA	p.K231K	PI4K2B_ENST00000512921.1_Silent_p.K135K	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	231	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	p.K231K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GAGGCAAAAAGTATGCTTTAG	0.373													5	35					0	0	0	0	A	25258233	G	A	25258233	2	1	212	1	0	0	0	0	0	0	0	1	11944	1020	36	4		4	PI4K2B	4	25258233	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08		25258233	165896043	39	38203											
FAM175A	84142	broad.mit.edu	37	chr4	84383771	84383771	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgtgtatctaacaaccGagatctcttgaattgccatc	10	14	7	10	1	3	2	0	1	3	1	5	3	3	2	2	0	3	1	2	0	4	5			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:84383771G>T	ENST00000321945.7	-	9	1189	c.1081C>A	c.(1081-1083)Cgg>Agg	p.R361R	FAM175A_ENST00000506553.1_Silent_p.R312R|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	361					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TCTAACAACCGAGATCTCTTG	0.393													34	120					1.26612e-14	5.4592e-14	1	0	T	84383771	G	T	84383771	2	4	212	1	0	0	0	0	0	0	0	1	5538	1057	37	3		3	FAM175A	4	84383771	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	59125538	84383771	106770505	40	38204											
ARSJ	79642	broad.mit.edu	37	chr4	114824711	114824711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagtgccattttccgacCatatgcgttgaatatccaac	11	11	6	13	2	0	1	0	1	0	0	2	2	2	1	5	0	3	1	5	0	5	5			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:114824711C>T	ENST00000315366.7	-	2	1385	c.519G>A	c.(517-519)atG>atA	p.M173I	ARSJ_ENST00000541197.1_Missense_Mutation_p.M173I	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	173						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ATTTTCCGACCATATGCGTTG	0.433													16	83					0	0	0	0	T	114824711	C	T	114824711	3	4	212	1	0	0	0	0	1	0	0	0	999	594	21	4	1284	4	ARSJ	4	114824711	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	30440940	114824711	76329565	41	38205											
FAT1	2195	broad.mit.edu	37	chr4	187517874	187517874	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggatagcagatccttCgaaggaatttcggtccagat	10	11	11	9	2	1	2	0	0	1	2	5	5	3	4	2	3	1	1	2	3	3	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:187517874C>A	ENST00000441802.2	-	25	13029	c.12820G>T	c.(12820-12822)Gaa>Taa	p.E4274*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4274					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCAGATCCTTCGAAGGAATTT	0.532										HNSCC(5;0.00058)			19	14					7.45023e-12	3.17501e-11	1	0	A	187517874	C	A	187517874	4	1	212	1	0	0	0	0	0	1	0	0	5734	893	31	3	958	3	FAT1	4	187517874	Nonsense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	72693163	187517874	3636402	42	38206											
SLC6A18	348932	broad.mit.edu	37	chr5	1232407	1232407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccacgtcgagctcgccatCggccagcggctgcggaaggg	6	6	15	14	6	0	0	0	0	0	0	4	2	1	1	3	4	3	2	3	4	1	1	rs141321317	byFrequency	TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:1232407C>T	ENST00000324642.3	+	2	357	c.234C>T	c.(232-234)atC>atT	p.I78I	SLC6A18_ENST00000296821.4_Silent_p.I78I	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	78					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)			AGCTCGCCATCGGCCAGCGGC	0.662													5	44					0	0	0	0	T	1232407	C	T	1232407	2	4	212	1	0	0	0	0	0	0	0	1	14769	874	31	1		1	SLC6A18	5	1232407	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08		1232407	179682853	43	38207											
RXFP3	51289	broad.mit.edu	37	chr5	33937333	33937333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatcgtgtccatggtgacgtCcatgaacatgtacgccagcg	9	9	12	11	4	0	2	0	2	0	0	3	3	2	2	3	1	3	1	3	1	2	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:33937333C>T	ENST00000330120.3	+	1	843	c.488C>T	c.(487-489)tCc>tTc	p.S163F		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	163						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						ATGGTGACGTCCATGAACATG	0.582													18	66					0	0	0	0	T	33937333	C	T	33937333	3	4	212	1	0	0	0	0	1	0	0	0	13846	855	30	2	490	2	RXFP3	5	33937333	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	32704926	33937333	146977927	44	38208											
ITGA2	3673	broad.mit.edu	37	chr5	52376453	52376453	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggtgcaaacagacaaggTaaagattaaaaaattgccta	18	8	10	5	0	0	2	0	0	0	2	0	2	0	2	1	3	3	2	1	3	8	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:52376453T>C	ENST00000296585.5	+	25	3182		c.e25+2			NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)						axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACAGACAAGGTAAAGATTAAA	0.383													19	47					0	0	0	0	C	52376453	T	C	52376453	5	2	212	1	0	0	0	0	0	0	1	0	7928	1652	57	5	3139	5	ITGA2	5	52376453	Splice_Site	SNP	T	TCGA-CR-7390-01A-11D-2012-08	18439120	52376453	128538807	45	38209											
NLN	57486	broad.mit.edu	37	chr5	65054536	65054536	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaaattaaaacaagaactGaggagctcattgtgcagacc	17	7	9	8	0	1	3	1	1	0	2	1	4	1	4	1	1	5	3	1	1	5	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:65054536G>C	ENST00000380985.5	+	2	362	c.184G>C	c.(184-186)Gag>Cag	p.E62Q	NLN_ENST00000502464.1_Intron	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	62					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AACAAGAACTGAGGAGCTCAT	0.448													15	39					0	0	0	0	C	65054536	G	C	65054536	3	2	212	1	0	0	0	0	1	0	0	0	10537	1291	45	2	190	2	NLN	5	65054536	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	12678083	65054536	115860724	46	38210											
SPZ1	84654	broad.mit.edu	37	chr5	79616524	79616524	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagaaaatatcagaggaCttgacaaaatcaatgaaatg	22	7	7	5	0	2	4	2	2	0	2	2	5	2	5	0	1	0	0	0	1	8	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:79616524C>G	ENST00000296739.4	+	1	735	c.490C>G	c.(490-492)Ctt>Gtt	p.L164V		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TATCAGAGGACTTGACAAAAT	0.368													7	33					0	0	0	0	G	79616524	C	G	79616524	3	3	212	1	0	0	0	0	1	0	0	0	15217	565	20	4	492	4	SPZ1	5	79616524	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	14561988	79616524	101298736	47	38211											
ANKHD1	54882	broad.mit.edu	37	chr5	139865277	139865277	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcagttcccaccacagAtgtgtctcagctccctccac	7	11	6	17	0	3	1	2	0	2	1	7	1	6	1	4	0	1	2	4	0	0	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:139865277A>T	ENST00000297183.6	+	13	2226	c.2102A>T	c.(2101-2103)gAt>gTt	p.D701V	ANKHD1_ENST00000360839.2_Missense_Mutation_p.D701V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D701V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACCACAGATGTGTCTCAG	0.378													9	34					0	0	0	0	T	139865277	A	T	139865277	3	4	212	1	0	0	0	0	1	0	0	0	628	333	12	5	2258	5	ANKHD1	5	139865277	Missense_Mutation	SNP	A	TCGA-CR-7390-01A-11D-2012-08	60248753	139865277	41049983	48	38212											
PCDHGA10	56106	broad.mit.edu	37	chr5	140793166	140793166	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaattccaagcagaaaatCtagacgtaaaaattaatgaa	22	8	5	6	1	1	3	0	1	1	2	2	3	2	3	1	0	1	2	1	0	11	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:140793166C>G	ENST00000398610.2	+	1	424	c.424C>G	c.(424-426)Cta>Gta	p.L142V	PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAAAATCTAGACGTAAA	0.413													10	26					0	0	0	0	G	140793166	C	G	140793166	3	3	212	1	0	0	0	0	1	0	0	0	11622	912	32	2	426	2	PCDHGA10	5	140793166	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	927889	140793166	40122094	49	38213											
CYFIP2	26999	broad.mit.edu	37	chr5	156816398	156816398	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagcgccatgcagttcgtgTactgcatccctgtgggaacc	7	9	13	12	2	0	0	0	0	0	0	2	2	1	2	3	2	5	4	3	2	2	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:156816398T>A	ENST00000347377.6	+	29	3840	c.3409T>A	c.(3409-3411)Tac>Aac	p.Y1137N	CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.Y836N|CYFIP2_ENST00000541131.1_Missense_Mutation_p.Y1062N|CYFIP2_ENST00000521420.1_Missense_Mutation_p.Y1111N|CYFIP2_ENST00000377576.3_Missense_Mutation_p.Y1137N|CYFIP2_ENST00000318218.6_Missense_Mutation_p.Y1162N|CYFIP2_ENST00000522463.1_Missense_Mutation_p.Y941N	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1162					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGTTCGTGTACTGCATCCC	0.622													7	15					0	0	0	0	A	156816398	T	A	156816398	3	1	212	1	0	0	0	0	1	0	0	0	4170	1638	57	5	3519	5	CYFIP2	5	156816398	Missense_Mutation	SNP	T	TCGA-CR-7390-01A-11D-2012-08	16023232	156816398	24098862	50	38214											
GCNT2	2651	broad.mit.edu	37	chr6	10557455	10557455	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggctctgcctatgtggctCtatcaagagagtttgccaac	8	13	10	10	0	3	1	1	0	2	1	3	2	3	1	2	2	3	3	2	2	4	4	rs56224370		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:10557455C>T	ENST00000316170.3	+	1	1216	c.799C>T	c.(799-801)Cta>Tta	p.L267L	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	269						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTATGTGGCTCTATCAAGAGA	0.488													23	87					0	0	0	0	T	10557455	C	T	10557455	2	4	212	1	0	0	0	0	0	0	0	1	6350	912	32	2		2	GCNT2	6	10557455	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08		10557455	160557612	51	38215											
KIAA0319	9856	broad.mit.edu	37	chr6	24570136	24570136	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagacagactacctgacGtgctcccagtggtagaagac	11	6	13	11	2	0	5	0	1	0	4	1	6	1	5	2	2	2	2	2	2	3	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:24570136G>A	ENST00000535378.1	-	13	2601	c.1959C>T	c.(1957-1959)caC>caT	p.H653H	KIAA0319_ENST00000543707.1_Silent_p.H662H|KIAA0319_ENST00000378214.3_Silent_p.H662H|KIAA0319_ENST00000430948.2_Silent_p.H617H|KIAA0319_ENST00000537886.1_Silent_p.H662H	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	662	PKD 4.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACTACCTGACGTGCTCCCAGT	0.527													10	21					0	0	0	0	A	24570136	G	A	24570136	2	1	212	1	0	0	0	0	0	0	0	1	8219	1136	40	1		1	KIAA0319	6	24570136	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	14012681	24570136	146544931	52	38216											
MDC1	9656	broad.mit.edu	37	chr6	30668370	30668370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtagtggaatggagcaatGagggaagtcctgagggcatg	11	7	17	6	1	0	2	0	2	0	0	1	5	1	5	2	4	1	3	2	4	4	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:30668370G>T	ENST00000376406.3	-	15	6789	c.6142C>A	c.(6142-6144)Cat>Aat	p.H2048N	MDC1_ENST00000376405.2_Missense_Mutation_p.H1784N	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2048	BRCT 2.|Required for nuclear localization (NLS2).			H -> R (in Ref. 2).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						ATGGAGCAATGAGGGAAGTCC	0.537								Other conserved DNA damage response genes					6	91					2.0095e-06	8.04897e-06	1	0	T	30668370	G	T	30668370	3	4	212	1	0	0	0	0	1	0	0	0	9472	1290	45	2	131	2	MDC1	6	30668370	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	6098234	30668370	140446697	53	38217											
HSPA1L	3305	broad.mit.edu	37	chr6	31778361	31778361	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgctggagggattccagtCaggtcaaaccgccccagcag	9	6	14	12	1	2	0	2	0	0	0	3	2	3	2	4	4	3	2	4	4	1	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:31778361C>G	ENST00000375654.4	-	2	1578	c.1389G>C	c.(1387-1389)ctG>ctC	p.L463L	HSPA1L_ENST00000417199.3_Silent_p.L463L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	463					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGATTCCAGTCAGGTCAAACC	0.552													34	100					0	0	0	0	G	31778361	C	G	31778361	2	3	212	1	0	0	0	0	0	0	0	1	7462	813	29	2		2	HSPA1L	6	31778361	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	1109991	31778361	139336706	54	38218											
TEAD3	7005	broad.mit.edu	37	chr6	35443391	35443391	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggagcacaccttggtggaGacgctgatggtcatgctatc	10	9	13	9	1	1	2	1	1	0	1	2	4	1	3	1	4	2	3	1	4	2	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:35443391G>A	ENST00000338863.7	-	11	1220	c.993C>T	c.(991-993)gtC>gtT	p.V331V	TEAD3_ENST00000402886.3_Silent_p.V271V	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN	TEA domain family member 3	331	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CCTTGGTGGAGACGCTGATGG	0.617													13	42					0	0	0	0	A	35443391	G	A	35443391	2	1	212	1	0	0	0	0	0	0	0	1	15834	929	33	2		2	TEAD3	6	35443391	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	3665030	35443391	135671676	55	38219											
DST	667	broad.mit.edu	37	chr6	56426298	56426313	+	Frame_Shift_Del	DEL	TTCATAACCATGACTT	TTCATAACCATGACTT	-																															ttgagtaagaggccaagatcTtcataaccatgacttatgtc																										TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:56426298_56426313delTTCATAACCATGACTT	ENST00000370754.5	-	57	14009_14024	c.14010_14025delAAGTCATGGTTATGAA	c.(14008-14025)atfs	p.ISHGYE4670fs	DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Frame_Shift_Del_p.ISHGYE2078fs|DST_ENST00000421834.2_Frame_Shift_Del_p.ISHGYE2404fs|DST_ENST00000370769.4_Frame_Shift_Del_p.ISHGYE4492fs|DST_ENST00000370788.2_Frame_Shift_Del_p.ISHGYE2404fs|DST_ENST00000446842.2_Frame_Shift_Del_p.ISHGYE4166fs|DST_ENST00000361203.3_Frame_Shift_Del_p.ISHGYE4490fs			Q03001	DYST_HUMAN	dystonin	4490					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCCAAGATCTTCATAACCATGACTTATGTCAGTCA	0.384													10	90	---	---	---	---					-	56426313	TTCATAACCATGACTT	-	56426298	7	5	212	1	0	1	0	1	0	0	0	0	4819	1606	56	0	9454	0	DST	6	56426298	Frame_Shift_Del	DEL	TTCATAACCATGACTT	TCGA-CR-7390-01A-11D-2012-08	20982907	56426298	114688769	56	38220											
RIPPLY2	134701	broad.mit.edu	37	chr6	84567050	84567050	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaattcaagccacaatttCattttatgaagattctgata	14	15	4	8	0	3	3	2	2	1	1	4	3	4	3	2	0	1	0	2	0	6	6			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:84567050C>G	ENST00000369689.1	+	4	480	c.329C>G	c.(328-330)tCa>tGa	p.S110*	RIPPLY2_ENST00000369687.1_Nonsense_Mutation_p.S52*	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	110	Ripply homology domain.				somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						GCCACAATTTCATTTTATGAA	0.323													15	53					0	0	0	0	G	84567050	C	G	84567050	4	3	212	1	0	0	0	0	0	1	0	0	13470	838	29	2	343	2	RIPPLY2	6	84567050	Nonsense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	28140752	84567050	86548017	57	38221											
EPHA7	2045	broad.mit.edu	37	chr6	94066437	94066437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataaacacaaaacatacctGcttgaccagtggtgatactg	15	9	8	9	0	0	2	0	2	0	0	0	3	0	2	2	1	5	1	2	1	6	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:94066437G>T	ENST00000369303.4	-	5	1506	c.1322C>A	c.(1321-1323)gCa>gAa	p.A441E		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	441						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AAACATACCTGCTTGACCAGT	0.398													9	39					7.48243e-07	3.01353e-06	1	0	T	94066437	G	T	94066437	3	4	212	1	0	0	0	0	1	0	0	0	5210	1319	46	4	1726	4	EPHA7	6	94066437	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	9499387	94066437	77048630	58	38222											
SNX3	8724	broad.mit.edu	37	chr6	108533400	108533400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagcttttatctattatttCatcttgtaaaaacatgtgaa	14	18	4	5	0	3	1	1	1	2	0	3	1	3	1	0	0	2	2	0	0	8	8			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:108533400C>T	ENST00000230085.8	-	4	780	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	SNX3_ENST00000426155.2_Missense_Mutation_p.E116K|SNX3_ENST00000349379.5_Missense_Mutation_p.E126K	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	148	PX.				cell communication|endocytosis|protein transport	early endosome|endosome membrane	phosphatidylinositol-3-phosphate binding|protein phosphatase binding			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		TCTATTATTTCATCTTGTAAA	0.338													4	23					0	0	0	0	T	108533400	C	T	108533400	3	4	212	1	0	0	0	0	1	0	0	0	14987	835	29	2	50	2	SNX3	6	108533400	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	14466963	108533400	62581667	59	38223											
ZBTB24	9841	broad.mit.edu	37	chr6	109796641	109796641	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctttagctgagacacatCcatgaatttgcgatggcagt	10	14	9	8	1	1	2	0	2	1	1	2	4	2	2	1	1	2	2	1	1	2	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:109796641C>A	ENST00000230122.3	-	5	1416	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.D417Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGAGACACATCCATGAATTTG	0.458													16	73					3.41278e-10	1.42135e-09	1	0	A	109796641	C	A	109796641	3	1	212	1	0	0	0	0	1	0	0	0	17626	855	30	2	856	2	ZBTB24	6	109796641	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	1263241	109796641	61318426	60	38224											
RSPH10B2	728194	broad.mit.edu	37	chr7	6820509	6820509	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacattcgtccaaatgcctgCcagataaaaggtaaatacaa	18	8	6	9	1	0	1	0	0	0	1	2	1	1	1	3	1	4	1	3	1	8	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:6820509C>A	ENST00000403107.1	+	13	1986	c.1599C>A	c.(1597-1599)tgC>tgA	p.C533*	RSPH10B2_ENST00000297186.3_Nonsense_Mutation_p.C533*|RSPH10B2_ENST00000433859.2_Nonsense_Mutation_p.C533*|RSPH10B2_ENST00000359718.3_Intron|RSPH10B2_ENST00000404077.1_Nonsense_Mutation_p.C533*|RSPH10B2_ENST00000463354.2_Intron					radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						CAAATGCCTGCCAGATAAAAG	0.398													5	140					4.68919e-08	1.92021e-07	1	0	A	6820509	C	A	6820509	4	1	212	1	0	0	0	0	0	1	0	0	13789	747	26	4	4334	4	RSPH10B2	7	6820509	Nonsense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08		6820509	152318154	61	38225											
NXPH1	30010	broad.mit.edu	37	chr7	8791329	8791329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccttttatagtacagattAtaaactggtacagaaagtgt	14	15	7	5	0	0	2	0	0	0	2	1	2	1	2	1	1	3	2	1	1	8	8			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:8791329A>G	ENST00000405863.1	+	3	1657	c.746A>G	c.(745-747)tAt>tGt	p.Y249C	NXPH1_ENST00000602349.1_Missense_Mutation_p.Y132C|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	249	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGTACAGATTATAAACTGGTA	0.448													7	20					0	0	0	0	G	8791329	A	G	8791329	3	3	212	1	0	0	0	0	1	0	0	0	10861	449	16	5	752	5	NXPH1	7	8791329	Missense_Mutation	SNP	A	TCGA-CR-7390-01A-11D-2012-08	1970820	8791329	150347334	62	38226											
ITGB8	3696	broad.mit.edu	37	chr7	20421484	20421484	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgtcatctgaaaaacaaCgtctatgtcaaatcgacaac	17	9	5	10	2	4	1	2	1	2	0	5	2	4	1	0	0	4	0	0	0	7	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:20421484C>T	ENST00000222573.3	+	6	1620	c.936C>T	c.(934-936)aaC>aaT	p.N312N	ITGB8_ENST00000537992.1_Silent_p.N177N	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	312	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TGAAAAACAACGTCTATGTCA	0.413													5	52					0	0	0	0	T	20421484	C	T	20421484	2	4	212	1	0	0	0	0	0	0	0	1	7954	535	19	1		1	ITGB8	7	20421484	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	11630155	20421484	138717179	63	38227											
SP4	6671	broad.mit.edu	37	chr7	21550740	21550740	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagaataaaaaaggtggtggGacagctcttgccattgttac	13	10	11	7	0	1	1	0	0	1	1	1	2	1	2	1	3	3	2	1	3	5	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:21550740G>A	ENST00000222584.3	+	6	2426	c.2208G>A	c.(2206-2208)ggG>ggA	p.G736G		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	736					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AAGGTGGTGGGACAGCTCTTG	0.448													9	92					0	0	0	0	A	21550740	G	A	21550740	2	1	212	1	0	0	0	0	0	0	0	1	15054	1161	41	2		2	SP4	7	21550740	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	1129256	21550740	137587923	64	38228											
DNAH11	8701	broad.mit.edu	37	chr7	21639716	21639716	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgaaccgaatagcaacacaCctggaaattaaaaattatca	20	8	5	8	1	1	1	1	1	0	0	1	3	1	2	2	1	3	1	2	1	9	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:21639716C>T	ENST00000328843.6	+	15	3010	c.2979C>T	c.(2977-2979)caC>caT	p.H993H	DNAH11_ENST00000409508.3_Silent_p.H993H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	993	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAGCAACACACCTGGAAATTA	0.358									Kartagener syndrome				5	61					0	0	0	0	T	21639716	C	T	21639716	2	4	212	1	0	0	0	0	0	0	0	1	4636	506	18	4		4	DNAH11	7	21639716	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	88976	21639716	137498947	65	38229											
BMPER	168667	broad.mit.edu	37	chr7	34125518	34125518	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttcaagtttgatgtggAtgactttgctgaatcttgga	11	15	10	5	0	2	3	1	3	1	0	2	5	2	5	0	2	2	2	0	2	3	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:34125518A>T	ENST00000297161.2	+	14	1933	c.1559A>T	c.(1558-1560)gAt>gTt	p.D520V	BMPER_ENST00000426693.1_Missense_Mutation_p.D520V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	520	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTTGATGTGGATGACTTTGCT	0.468													27	88					0	0	0	0	T	34125518	A	T	34125518	3	4	212	1	0	0	0	0	1	0	0	0	1473	333	12	5	1609	5	BMPER	7	34125518	Missense_Mutation	SNP	A	TCGA-CR-7390-01A-11D-2012-08	12485802	34125518	125013145	66	38230											
AMPH	273	broad.mit.edu	37	chr7	38530746	38530746	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccacagcacatcacatttCtaaaagaaataaagagacca	19	7	4	11	0	2	2	1	0	1	2	3	3	3	2	2	0	1	1	2	0	5	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:38530746C>G	ENST00000356264.2	-	5	516		c.e5-1		AMPH_ENST00000325590.5_Splice_Site|AMPH_ENST00000428293.2_Splice_Site	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CATCACATTTCTAAAAGAAAT	0.353													16	143					0	0	0	0	G	38530746	C	G	38530746	5	3	212	1	0	0	0	0	0	0	1	0	588	927	32	2	1855	2	AMPH	7	38530746	Splice_Site	SNP	C	TCGA-CR-7390-01A-11D-2012-08	4405228	38530746	120607917	67	38231											
TBL2	26608	broad.mit.edu	37	chr7	72988772	72988772	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgaggcttctccttccGaatccgctgatattgtttct	5	18	8	10	2	2	2	0	2	2	0	5	3	4	2	3	1	0	4	3	1	2	7	rs145718922		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:72988772G>T	ENST00000305632.5	-	2	443	c.202C>A	c.(202-204)Cgg>Agg	p.R68R	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Silent_p.R68R|TBL2_ENST00000432538.1_Silent_p.R32R	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	68										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTCCTTCCGAATCCGCTGA	0.522													14	59					9.31168e-06	3.68944e-05	1	0	T	72988772	G	T	72988772	2	4	212	1	0	0	0	0	0	0	0	1	15736	1057	37	3		3	TBL2	7	72988772	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	34458026	72988772	86149891	68	38232											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73969808	73969808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtggacgagagcctgaaGagacagggctttcaaggtaa	12	7	15	7	1	1	3	1	1	0	2	1	6	1	4	1	4	1	2	1	4	3	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:73969808G>A	ENST00000476977.1	+	19	3698	c.2007G>A	c.(2005-2007)aaG>aaA	p.K669K	GTF2IRD1_ENST00000424337.2_Silent_p.K669K|GTF2IRD1_ENST00000489094.1_Intron|GTF2IRD1_ENST00000455841.2_Silent_p.K701K|GTF2IRD1_ENST00000265755.3_Silent_p.K684K			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	684						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAGCCTGAAGAGACAGGGCT	0.607													6	27					0	0	0	0	A	73969808	G	A	73969808	2	1	212	1	0	0	0	0	0	0	0	1	6918	933	33	2		2	GTF2IRD1	7	73969808	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	981036	73969808	85168855	69	38233											
SRRT	51593	broad.mit.edu	37	chr7	100485056	100485056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagacccagagcaggaagtGgagaagttcgtcacctccaa	15	5	11	10	1	1	3	1	0	0	3	3	5	2	4	3	2	1	2	3	2	4	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:100485056G>A	ENST00000388793.4	+	16	2308	c.2088G>A	c.(2086-2088)gtG>gtA	p.V696V	SRRT_ENST00000457580.2_Silent_p.V697V|SRRT_ENST00000432932.1_Silent_p.V696V|SRRT_ENST00000347433.4_Silent_p.V697V	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	697					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCAGGAAGTGGAGAAGTTCG	0.547													31	62					0	0	0	0	A	100485056	G	A	100485056	2	1	212	1	0	0	0	0	0	0	0	1	15262	1335	47	4		4	SRRT	7	100485056	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	26515248	100485056	58653607	70	38234											
DOCK4	9732	broad.mit.edu	37	chr7	111617324	111617324	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggggtgtctttcttccgAtgtcgatgttccatctgaat	6	15	10	10	3	3	1	0	1	3	0	6	3	5	1	3	2	0	1	3	2	1	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:111617324A>T	ENST00000428084.1	-	8	836	c.564T>A	c.(562-564)caT>caA	p.H188Q	DOCK4_ENST00000437633.1_Missense_Mutation_p.H188Q|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	188					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTTTCTTCCGATGTCGATGTT	0.502													5	16					0	0	0	0	T	111617324	A	T	111617324	3	4	212	1	0	0	0	0	1	0	0	0	4725	330	12	5	5516	5	DOCK4	7	111617324	Missense_Mutation	SNP	A	TCGA-CR-7390-01A-11D-2012-08	11132268	111617324	47521339	71	38235											
TMEM168	64418	broad.mit.edu	37	chr7	112407527	112407527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcactgtgcgtcccttttCagtccagcagatgttattac	7	16	7	11	1	2	1	2	0	0	1	4	1	4	1	2	0	3	2	2	0	2	5			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:112407527C>T	ENST00000312814.5	-	5	2379	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	TMEM168_ENST00000454074.1_Missense_Mutation_p.E607K	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	607						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CGTCCCTTTTCAGTCCAGCAG	0.463													8	58					0	0	0	0	T	112407527	C	T	112407527	3	4	212	1	0	0	0	0	1	0	0	0	16177	835	29	2	278	2	TMEM168	7	112407527	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	790203	112407527	46731136	72	38236											
TRPV5	56302	broad.mit.edu	37	chr7	142606703	142606703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattcgcacccacagatcccGgagcgaggccacaggcagcg	11	3	12	15	4	0	1	0	0	0	1	2	3	1	2	3	3	2	2	3	3	1	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:142606703G>A	ENST00000265310.1	-	14	2196	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	616					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CACAGATCCCGGAGCGAGGCC	0.597													10	64					0	0	0	0	A	142606703	G	A	142606703	2	1	212	1	0	0	0	0	0	0	0	1	16694	1103	39	1		1	TRPV5	7	142606703	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	30199176	142606703	16531960	73	38237											
ZNF862	643641	broad.mit.edu	37	chr7	149557670	149557670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggtttgggcagttccCatggttagtaattgacccca	8	13	11	9	0	1	1	1	1	0	0	2	1	2	1	3	3	0	5	3	3	2	5			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:149557670C>A	ENST00000223210.4	+	7	1666	c.1421C>A	c.(1420-1422)cCa>cAa	p.P474Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GGGCAGTTCCCATGGTTAGTA	0.473													30	145					7.01153e-11	2.93683e-10	1	0	A	149557670	C	A	149557670	3	1	212	1	0	0	0	0	1	0	0	0	18288	594	21	4	1447	4	ZNF862	7	149557670	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	6950967	149557670	9580993	74	38238											
SNX16	64089	broad.mit.edu	37	chr8	82752108	82752108	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaactggcccttagaagaAtttgagcttgttgagacact	11	13	9	8	0	1	4	0	2	1	3	1	5	1	4	1	1	2	2	1	1	4	5			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr8:82752108A>T	ENST00000396330.2	-	3	620	c.114T>A	c.(112-114)aaT>aaA	p.N38K	SNX16_ENST00000345957.4_Missense_Mutation_p.N38K|SNX16_ENST00000353788.4_Missense_Mutation_p.N38K	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	38					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						CCTTAGAAGAATTTGAGCTTG	0.393													37	64					0	0	0	0	T	82752108	A	T	82752108	3	4	212	1	0	0	0	0	1	0	0	0	14975	98	4	5	948	5	SNX16	8	82752108	Missense_Mutation	SNP	A	TCGA-CR-7390-01A-11D-2012-08		82752108	63611914	75	38239											
MPDZ	8777	broad.mit.edu	37	chr9	13107074	13107074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgacagcaatgatctgatCgccccttttcagacgtccgt	9	12	8	12	3	2	4	1	3	1	1	4	4	3	4	3	0	1	1	3	0	1	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:13107074C>T	ENST00000319217.7	-	47	6350	c.6103G>A	c.(6103-6105)Gat>Aat	p.D2035N	MPDZ_ENST00000538841.1_Missense_Mutation_p.D894N|MPDZ_ENST00000381015.4_Missense_Mutation_p.D2035N|MPDZ_ENST00000541093.1_Missense_Mutation_p.D269N|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1973N|MPDZ_ENST00000546205.1_Missense_Mutation_p.D2049N|MPDZ_ENST00000447879.1_Missense_Mutation_p.D2002N|MPDZ_ENST00000541718.1_Missense_Mutation_p.D2006N|MPDZ_ENST00000381022.2_Missense_Mutation_p.D2006N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2035	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATGATCTGATCGCCCCTTTTC	0.448													63	89					0	0	0	0	T	13107074	C	T	13107074	3	4	212	1	0	0	0	0	1	0	0	0	9792	884	31	1	113	1	MPDZ	9	13107074	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08		13107074	128106357	76	38240											
GBA2	57704	broad.mit.edu	37	chr9	35741826	35741826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcggaggacacttgggCgctccagggacaggacttgc	8	6	16	11	2	0	0	0	0	0	0	1	4	1	4	1	5	3	2	1	5	0	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:35741826C>T	ENST00000378094.4	-	4	1142	c.629G>A	c.(628-630)cGc>cAc	p.R210H	GBA2_ENST00000378103.3_Missense_Mutation_p.R210H|GBA2_ENST00000545786.1_Missense_Mutation_p.R216H|GBA2_ENST00000467252.1_5'UTR			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	210					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACACTTGGGCGCTCCAGGGA	0.587													15	66					0	0	0	0	T	35741826	C	T	35741826	3	4	212	1	0	0	0	0	1	0	0	0	6316	768	27	1	2210	1	GBA2	9	35741826	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	22634752	35741826	105471605	77	38241											
GOLM1	51280	broad.mit.edu	37	chr9	88650342	88650342	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacaagctggtctcgcTcagggccctccatctctgga	7	9	12	13	1	3	1	1	1	2	0	6	3	4	3	2	4	1	2	2	4	1	0			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:88650342T>A	ENST00000388712.3	-	8	1124	c.956A>T	c.(955-957)gAg>gTg	p.E319V	GOLM1_ENST00000388711.3_Missense_Mutation_p.E319V	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	319						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTGGTCTCGCTCAGGGCCCTC	0.647											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	110					0	0	0	0	A	88650342	T	A	88650342	3	1	212	1	0	0	0	0	1	0	0	0	6615	1551	54	5	261	5	GOLM1	9	88650342	Missense_Mutation	SNP	T	TCGA-CR-7390-01A-11D-2012-08	52908516	88650342	52563089	78	38242											
GRIN3A	116443	broad.mit.edu	37	chr9	104499644	104499644	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaccaagtcgagctccatCatttcgccctggctctgggg	6	10	11	14	2	2	1	1	1	1	0	5	2	3	1	3	3	1	2	3	3	1	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:104499644C>G	ENST00000361820.3	-	1	1218	c.618G>C	c.(616-618)atG>atC	p.M206I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	206					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CGAGCTCCATCATTTCGCCCT	0.602													36	22					0	0	0	0	G	104499644	C	G	104499644	3	3	212	1	0	0	0	0	1	0	0	0	6833	826	29	2	2765	2	GRIN3A	9	104499644	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	15849302	104499644	36713787	79	38243											
FAM102A	399665	broad.mit.edu	37	chr9	130712747	130712747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcttcgtgtcatatccCtcgagcaggcagcagcgcac	7	10	11	13	3	2	0	1	0	1	0	5	1	3	0	1	1	3	5	1	1	1	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:130712747C>T	ENST00000373095.1	-	4	744	c.369G>A	c.(367-369)gaG>gaA	p.E123E	FAM102A_ENST00000373084.4_5'UTR|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	123										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TGTCATATCCCTCGAGCAGGC	0.622													10	91					0	0	0	0	T	130712747	C	T	130712747	2	4	212	1	0	0	0	0	0	0	0	1	5423	680	24	4		4	FAM102A	9	130712747	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	26213103	130712747	10500684	80	38244											
NOTCH1	4851	broad.mit.edu	37	chr9	139402771	139402771	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcactcgcagcggtactGggtgtgggtctgccagcatt	5	9	17	10	2	1	0	0	0	1	0	2	0	1	0	1	5	4	4	1	5	1	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:139402771G>A	ENST00000277541.6	-	20	3313	c.3238C>T	c.(3238-3240)Cag>Tag	p.Q1080*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1080	EGF-like 28.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGCGGTACTGGGTGTGGGTC	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			68	64					0	0	0	0	A	139402771	G	A	139402771	4	1	212	1	0	0	0	0	0	1	0	0	10617	1357	47	4	4489	4	NOTCH1	9	139402771	Nonsense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	8690024	139402771	1810660	81	38245											
FBXO18	84893	broad.mit.edu	37	chr10	5951018	5951018	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgctgaacctcatacGgtgagctttgcctgtgctgt	5	14	13	9	1	1	2	1	2	0	0	1	2	1	2	2	1	6	3	2	1	2	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:5951018G>A	ENST00000379999.5	+	5	1141	c.1037_splice	c.e5+1	p.R346_splice	FBXO18_ENST00000379994.1_Splice_Site_p.R32_splice|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Splice_Site_p.R295_splice	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	295					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AACCTCATACGGTGAGCTTTG	0.478													13	88					0	0	0	0	A	5951018	G	A	5951018	5	1	212	1	0	0	0	0	0	0	1	0	5776	1130	39	1	1060	1	FBXO18	10	5951018	Splice_Site	SNP	G	TCGA-CR-7390-01A-11D-2012-08		5951018	129583729	82	38246											
RBM17	84991	broad.mit.edu	37	chr10	6148125	6148125	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcgtaaagacagacatgaAgcaagtgggtttgcaaggag	15	6	15	5	1	0	3	0	1	0	2	0	4	0	4	0	3	2	4	0	3	5	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:6148125A>G	ENST00000446108.1	+	5	1073	c.429A>G	c.(427-429)gaA>gaG	p.E143E	RBM17_ENST00000379888.4_Silent_p.E143E	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	143					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						ACAGACATGAAGCAAGTGGGT	0.408													5	18					0	0	0	0	G	6148125	A	G	6148125	2	3	212	1	0	0	0	0	0	0	0	1	13201	69	3	5		5	RBM17	10	6148125	Silent	SNP	A	TCGA-CR-7390-01A-11D-2012-08	197107	6148125	129386622	83	38247											
TAF3	83860	broad.mit.edu	37	chr10	8007660	8007660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagaaagagaagagagaGcgagagaagagagaaaaaga	24	0	16	1	1	0	9	0	0	0	9	0	15	0	9	0	0	1	0	0	0	5	0			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:8007660G>A	ENST00000344293.5	+	3	2393	c.2187G>A	c.(2185-2187)gaG>gaA	p.E729E		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	729	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						agaagagagagcgagagaaga	0.383													3	21					0	0	0	0	A	8007660	G	A	8007660	2	1	212	1	0	0	0	0	0	0	0	1	15616	962	34	4		4	TAF3	10	8007660	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	1859535	8007660	127527087	84	38248											
CUBN	8029	broad.mit.edu	37	chr10	16918966	16918966	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtagaagttaagcagaacCggcccagcgatggtgagggg	12	5	17	7	2	0	3	0	1	0	2	0	5	0	3	2	4	3	3	2	4	4	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:16918966C>T	ENST00000377833.4	-	57	9101	c.9036G>A	c.(9034-9036)ccG>ccA	p.P3012P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3012	CUB 22.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAGCAGAACCGGCCCAGCGA	0.483													24	57					0	0	0	0	T	16918966	C	T	16918966	2	4	212	1	0	0	0	0	0	0	0	1	4083	639	23	1		1	CUBN	10	16918966	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	8911306	16918966	118615781	85	38249											
FAM13C	220965	broad.mit.edu	37	chr10	61012750	61012750	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtcttcatcagagtcctcTtcctcctgcttatcacaggc	6	13	7	15	1	5	1	3	0	2	1	8	1	8	1	3	2	1	1	3	2	1	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:61012750T>A	ENST00000373867.3	-	13	1554	c.1089A>T	c.(1087-1089)gaA>gaT	p.E363D	FAM13C_ENST00000419214.2_Missense_Mutation_p.E349D|FAM13C_ENST00000468840.2_Missense_Mutation_p.E364D|FAM13C_ENST00000442566.3_Missense_Mutation_p.E468D|FAM13C_ENST00000435852.2_Missense_Mutation_p.E447D|FAM13C_ENST00000277705.6_Missense_Mutation_p.E467D|FAM13C_ENST00000373868.2_Missense_Mutation_p.E447D	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	447										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						CAGAGTCCTCTTCCTCCTGCT	0.463													13	65					0	0	0	0	A	61012750	T	A	61012750	3	1	212	1	0	0	0	0	1	0	0	0	5495	1606	56	5	428	5	FAM13C	10	61012750	Missense_Mutation	SNP	T	TCGA-CR-7390-01A-11D-2012-08	44093784	61012750	74521997	86	38250											
PBLD	64081	broad.mit.edu	37	chr10	70044029	70044029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattcccagctctcctcctcGgtgggaacactgaaaagcta	11	9	8	13	1	1	1	0	1	1	0	5	2	3	2	3	2	3	2	3	2	5	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:70044029G>C	ENST00000358769.2	-	10	974	c.772C>G	c.(772-774)Cga>Gga	p.R258G	PBLD_ENST00000309049.4_Missense_Mutation_p.R258G|PBLD_ENST00000336578.1_Missense_Mutation_p.R225G	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	258					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCTCCTCCTCGGTGGGAACAC	0.423													9	67					0	0	0	0	C	70044029	G	C	70044029	3	2	212	1	0	0	0	0	1	0	0	0	11560	1124	39	3	98	3	PBLD	10	70044029	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	9031279	70044029	65490718	87	38251											
SYNPO2L	79933	broad.mit.edu	37	chr10	75407451	75407451	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaggttctgtaccagcgaTagcagctcggggttgggcga	7	9	15	10	3	1	0	0	0	1	0	3	2	2	0	2	4	4	5	2	4	2	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:75407451T>C	ENST00000394810.2	-	4	2108	c.1959A>G	c.(1957-1959)ctA>ctG	p.L653L	SYNPO2L_ENST00000372873.4_Silent_p.L429L|SYNPO2L_ENST00000372872.4_Intron	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	653	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GTACCAGCGATAGCAGCTCGG	0.632													31	157					0	0	0	0	C	75407451	T	C	75407451	2	2	212	1	0	0	0	0	0	0	0	1	15549	1393	49	5		5	SYNPO2L	10	75407451	Silent	SNP	T	TCGA-CR-7390-01A-11D-2012-08	5363422	75407451	60127296	88	38252											
ZMIZ1	57178	broad.mit.edu	37	chr10	81058853	81058853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattccctgtgcgggatggCgtggtgctggagcccttccg	4	10	15	12	3	0	0	0	0	0	0	2	2	2	2	3	4	3	1	3	4	0	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:81058853C>T	ENST00000334512.5	+	16	2285	c.1713C>T	c.(1711-1713)ggC>ggT	p.G571G		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	571					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	p.G571G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TGCGGGATGGCGTGGTGCTGG	0.647													5	48					0	0	0	0	T	81058853	C	T	81058853	2	4	212	1	0	0	0	0	0	0	0	1	17791	755	27	1		1	ZMIZ1	10	81058853	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	5651402	81058853	54475894	89	38253											
FGFBP3	143282	broad.mit.edu	37	chr10	93668075	93668075	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccggtccccatgggtcgctCctcgttggggaccaaggccg	4	7	14	16	4	0	0	0	0	0	0	4	1	2	1	6	5	0	2	6	5	1	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:93668075C>A	ENST00000311575.5	-	2	815	c.652G>T	c.(652-654)Gag>Tag	p.E218*		NM_152429.4	NP_689642.3	Q8TAT2	FGFP3_HUMAN	fibroblast growth factor binding protein 3	218					positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability	extracellular region	fibroblast growth factor binding|heparin binding			large_intestine(1)|prostate(1)	2		Colorectal(252;0.162)				ATGGGTCGCTCCTCGTTGGGG	0.667													14	62					1.5842e-08	6.56056e-08	1	0	A	93668075	C	A	93668075	4	1	212	1	0	0	0	0	0	1	0	0	5907	864	30	2	128	2	FGFBP3	10	93668075	Nonsense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	12609222	93668075	41866672	90	38254											
ZNF518A	9849	broad.mit.edu	37	chr10	97917279	97917279	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcctctgtccactgggcaAggtaatagagctgaagaggg	11	8	13	9	0	1	3	0	1	1	2	3	3	3	3	2	3	1	3	2	3	4	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:97917279A>T	ENST00000534948.1	+	0	2057							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CCACTGGGCAAGGTAATAGAG	0.403													17	44					0	0	0	0	T	97917279	A	T	97917279	1	4	212	0	1	0	0	0	0	0	0	0	18057	69	3	5		5	ZNF518A	10	97917279	RNA	SNP	A	TCGA-CR-7390-01A-11D-2012-08	4249204	97917279	37617468	91	38255											
ATRNL1	26033	broad.mit.edu	37	chr10	117221532	117221532	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgccataaactttatagCaaacccagaacaggtgagga	16	8	8	9	0	0	2	0	1	0	1	0	3	0	3	2	2	6	1	2	2	7	5			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:117221532C>A	ENST00000355044.3	+	22	3530	c.3404C>A	c.(3403-3405)gCa>gAa	p.A1135E	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Missense_Mutation_p.A186E	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1135						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AACTTTATAGCAAACCCAGAA	0.318													5	41					0.000602214	0.00232328	1	0	A	117221532	C	A	117221532	3	1	212	1	0	0	0	0	1	0	0	0	1211	710	25	4	3490	4	ATRNL1	10	117221532	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	19304253	117221532	18313215	92	38256											
OR51L1	119682	broad.mit.edu	37	chr11	5020608	5020608	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgctatctgccatccactGcactaccccaccatcctcac	8	10	4	19	0	2	0	1	0	1	0	4	0	4	0	6	0	4	3	6	0	2	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:5020608G>A	ENST00000321543.1	+	1	396	c.396G>A	c.(394-396)ctG>ctA	p.L132L		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	132					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)		GCCATCCACTGCACTACCCCA	0.493													33	155					0	0	0	0	A	5020608	G	A	5020608	2	1	212	1	0	0	0	0	0	0	0	1	11173	1306	46	4		4	OR51L1	11	5020608	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08		5020608	129985908	93	38257											
OR56A4	120793	broad.mit.edu	37	chr11	6024283	6024283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacgtagtagagaagtacaGaaacataaaaagtacattct	21	8	7	5	1	1	2	0	0	1	2	1	3	1	2	0	0	4	4	0	0	10	6			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:6024283G>A	ENST00000330728.4	-	1	141	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAAGTACAGAAACATAAAA	0.433													12	45					0	0	0	0	A	6024283	G	A	6024283	2	1	212	1	0	0	0	0	0	0	0	1	11206	933	33	2		2	OR56A4	11	6024283	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	1003675	6024283	128982233	94	38258											
SBF2	81846	broad.mit.edu	37	chr11	9838470	9838470	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggtagctgctgttactgaAggaggccgagtgatccttgc	8	11	14	8	1	0	2	0	2	0	0	1	4	1	3	2	3	4	4	2	3	4	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:9838470A>G	ENST00000256190.8	-	29	4032	c.3895T>C	c.(3895-3897)Ttc>Ctc	p.F1299L		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1299	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTGTTACTGAAGGAGGCCGAG	0.493													16	47					0	0	0	0	G	9838470	A	G	9838470	3	3	212	1	0	0	0	0	1	0	0	0	13945	72	3	5	1702	5	SBF2	11	9838470	Missense_Mutation	SNP	A	TCGA-CR-7390-01A-11D-2012-08	3814187	9838470	125168046	95	38259											
ABCC8	6833	broad.mit.edu	37	chr11	17428228	17428228	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagtctcttggccaccttCagccctgtccactccacagt	6	11	7	17	0	2	0	1	0	1	0	5	0	4	0	5	1	2	1	5	1	0	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:17428228C>T	ENST00000302539.4	-	26	3398	c.3273G>A	c.(3271-3273)ctG>ctA	p.L1091L	ABCC8_ENST00000389817.3_Silent_p.L1090L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1090	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGGCCACCTTCAGCCCTGTCC	0.612													9	46					0	0	0	0	T	17428228	C	T	17428228	2	4	212	1	0	0	0	0	0	0	0	1	58	813	29	2		2	ABCC8	11	17428228	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	7589758	17428228	117578288	96	38260											
SLC17A6	57084	broad.mit.edu	37	chr11	22397578	22397578	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgttggctattctcatactAgaggggtagcaatctcattc	9	14	9	9	1	2	1	2	0	2	1	6	1	2	1	0	3	2	4	0	3	5	7			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:22397578A>G	ENST00000263160.3	+	10	1662	c.1225A>G	c.(1225-1227)Aga>Gga	p.R409G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	409					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTCTCATACTAGAGGGGTAGC	0.383													32	156					0	0	0	0	G	22397578	A	G	22397578	3	3	212	1	0	0	0	0	1	0	0	0	14509	412	15	5	1263	5	SLC17A6	11	22397578	Missense_Mutation	SNP	A	TCGA-CR-7390-01A-11D-2012-08	4969350	22397578	112608938	97	38261											
FNBP4	23360	broad.mit.edu	37	chr11	47753052	47753052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttcttcctcttcaccatCtggaaactcccactgagact	8	14	4	15	0	5	1	1	1	4	1	7	3	7	2	3	1	1	0	3	1	1	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:47753052C>G	ENST00000263773.5	-	12	1894	c.1882G>C	c.(1882-1884)Gat>Cat	p.D628H		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	628	WW 2.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCTTCACCATCTGGAAACTCC	0.403													14	78					0	0	0	0	G	47753052	C	G	47753052	3	3	212	1	0	0	0	0	1	0	0	0	6012	913	32	2	1195	2	FNBP4	11	47753052	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	25355474	47753052	87253464	98	38262											
SCYL1	57410	broad.mit.edu	37	chr11	65294570	65294570	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctttgtagaaaccaacctCttcctggaggagattcaggt	10	11	10	10	1	2	2	1	0	1	2	3	4	3	3	3	3	2	2	3	3	3	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:65294570C>T	ENST00000524944.1	+	6	864	c.831C>T	c.(829-831)ctC>ctT	p.L277L	SCYL1_ENST00000420247.2_Silent_p.L277L|SCYL1_ENST00000533862.1_Silent_p.L277L|SCYL1_ENST00000527630.1_Silent_p.L277L|SCYL1_ENST00000527009.1_Silent_p.L134L|SCYL1_ENST00000279270.6_Silent_p.L277L|SCYL1_ENST00000525364.1_Silent_p.L277L|SCYL1_ENST00000270176.5_Silent_p.L277L			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	277	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						AAACCAACCTCTTCCTGGAGG	0.572													8	74					0	0	0	0	T	65294570	C	T	65294570	2	4	212	1	0	0	0	0	0	0	0	1	14034	900	32	2		2	SCYL1	11	65294570	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	17541518	65294570	69711946	99	38263											
NPAS4	266743	broad.mit.edu	37	chr11	66192179	66192179	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgtccccctggtgccCgaaggcctgctcacacctga	6	8	12	15	1	1	1	1	1	0	0	2	3	2	2	5	3	2	1	5	3	1	0	rs141846354		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:66192179C>T	ENST00000311034.2	+	7	1994	c.1818C>T	c.(1816-1818)ccC>ccT	p.P606P		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	606					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCCTGGTGCCCGAAGGCCTGC	0.587													57	108					0	0	0	0	T	66192179	C	T	66192179	2	4	212	1	0	0	0	0	0	0	0	1	10635	639	23	1		1	NPAS4	11	66192179	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	897609	66192179	68814337	100	38264											
CNTN5	53942	broad.mit.edu	37	chr11	100169983	100169983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggctggaaggaaaaaatGgtgacatcctctgaagcttc	12	9	12	8	1	1	2	0	2	1	0	3	4	2	4	1	4	1	2	1	4	5	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:100169983G>T	ENST00000524871.1	+	20	2765	c.2475G>T	c.(2473-2475)atG>atT	p.M825I	CNTN5_ENST00000527185.1_Missense_Mutation_p.M825I|CNTN5_ENST00000528682.1_Missense_Mutation_p.M825I|CNTN5_ENST00000418526.2_Missense_Mutation_p.M751I|CNTN5_ENST00000279463.3_Missense_Mutation_p.M825I|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	825	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGGAAAAAATGGTGACATCCT	0.423													7	31					8.12818e-05	0.000318607	1	0	T	100169983	G	T	100169983	3	4	212	1	0	0	0	0	1	0	0	0	3674	1348	47	4	2545	4	CNTN5	11	100169983	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	33977804	100169983	34836533	101	38265											
CEP164	22897	broad.mit.edu	37	chr11	117266774	117266780	+	Frame_Shift_Del	DEL	CTGGAGG	CTGGAGG	-																															atctttccttccacagcagcCtggaggctgaagctcaaaag																										TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:117266774_117266780delCTGGAGG	ENST00000278935.3	+	25	3241_3247	c.3094_3100delCTGGAGG	c.(3094-3102)ctfs	p.LEA1032fs	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1032					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCACAGCAGCCTGGAGGCTGAAGCTCA	0.546													17	75	---	---	---	---					-	117266780	CTGGAGG	-	117266774	7	5	212	1	0	1	0	1	0	0	0	0	3278	680	24	0	3184	0	CEP164	11	117266774	Frame_Shift_Del	DEL	CTGGAGG	TCGA-CR-7390-01A-11D-2012-08	17096791	117266774	17739742	102	38266											
RAD52	5893	broad.mit.edu	37	chr12	1023104	1023104	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtttggaggtcccaagatCcagattttgcttgtggtttc	8	15	11	7	0	0	2	0	0	0	2	3	3	2	3	2	3	1	3	2	3	2	5			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:1023104C>A	ENST00000358495.3	-	11	1289	c.1151G>T	c.(1150-1152)gGa>gTa	p.G384V	RAD52_ENST00000539046.1_Missense_Mutation_p.G307V|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000430095.2_Missense_Mutation_p.G384V	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	384					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GTCCCAAGATCCAGATTTTGC	0.488								Homologous recombination					29	65					3.57733e-08	1.47314e-07	1	0	A	1023104	C	A	1023104	3	1	212	1	0	0	0	0	1	0	0	0	13073	855	30	2	113	2	RAD52	12	1023104	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08		1023104	132828791	103	38267											
TSPAN9	10867	broad.mit.edu	37	chr12	3387622	3387622	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctgggagtgggcatctgGctctccgtgtcccaaggcaa	6	9	14	12	1	2	0	0	0	2	0	4	1	3	1	2	4	1	4	2	4	2	0			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:3387622G>A	ENST00000011898.5	+	4	260	c.99G>A	c.(97-99)tgG>tgA	p.W33*	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Nonsense_Mutation_p.W33*|TSPAN9_ENST00000407263.1_Nonsense_Mutation_p.W33*	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	33						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TGGGCATCTGGCTCTCCGTGT	0.577													38	118					0	0	0	0	A	3387622	G	A	3387622	4	1	212	1	0	0	0	0	0	1	0	0	16749	1212	42	4	105	4	TSPAN9	12	3387622	Nonsense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	2364518	3387622	130464273	104	38268											
C12orf71	728858	broad.mit.edu	37	chr12	27235255	27235255	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccccttggacgggaggCagaaagtggatggaaggacc	11	5	16	9	1	0	1	0	0	0	1	0	6	0	6	3	6	1	1	3	6	2	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:27235255C>G	ENST00000429849.2	-	1	192	c.162G>C	c.(160-162)ctG>ctC	p.L54L		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	54										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GGACGGGAGGCAGAAAGTGGA	0.537													3	65					0	0	0	0	G	27235255	C	G	27235255	2	3	212	1	0	0	0	0	0	0	0	1	1724	697	25	4		4	C12orf71	12	27235255	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	23847633	27235255	106616640	105	38269											
MAP3K12	7786	broad.mit.edu	37	chr12	53876495	53876495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggccctactggaggaggtgGttcccctttggctcccccag	5	9	13	14	0	0	0	0	0	0	0	2	2	2	2	5	6	1	2	5	6	1	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:53876495G>T	ENST00000267079.2	-	12	2218	c.1993C>A	c.(1993-1995)Cca>Aca	p.P665T	MAP3K12_ENST00000547035.1_Missense_Mutation_p.P698T|MAP3K12_ENST00000547488.1_Missense_Mutation_p.P698T	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	665	Poly-Pro.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGAGGAGGTGGTTCCCCTTTG	0.672													25	94					1.5548e-18	6.7436e-18	1	0	T	53876495	G	T	53876495	3	4	212	1	0	0	0	0	1	0	0	0	9315	1261	44	4	602	4	MAP3K12	12	53876495	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	26641240	53876495	79975400	106	38270											
OR6C65	403282	broad.mit.edu	37	chr12	55794454	55794454	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatcatcattatgttaacaTtgtcaaatattcatttgaaa	15	17	4	5	0	4	2	4	2	0	0	4	2	4	2	0	0	1	1	0	0	5	6			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:55794454T>A	ENST00000379665.2	+	1	241	c.142T>A	c.(142-144)Ttg>Atg	p.L48M		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TATGTTAACATTGTCAAATAT	0.299													11	19					0	0	0	0	A	55794454	T	A	55794454	3	1	212	1	0	0	0	0	1	0	0	0	11266	1490	52	5	144	5	OR6C65	12	55794454	Missense_Mutation	SNP	T	TCGA-CR-7390-01A-11D-2012-08	1917959	55794454	78057441	107	38271											
ASCL1	429	broad.mit.edu	37	chr12	103352724	103352724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcttctcgacttcaccaaCtggttctgaggggctcggcc	6	10	12	13	2	3	1	1	1	2	0	5	3	3	1	2	4	2	3	2	4	1	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:103352724C>G	ENST00000266744.3	+	1	1261	c.702C>G	c.(700-702)aaC>aaG	p.N234K		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	234					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						ACTTCACCAACTGGTTCTGAG	0.617													6	34					0	0	0	0	G	103352724	C	G	103352724	3	3	212	1	0	0	0	0	1	0	0	0	1038	564	20	4	704	4	ASCL1	12	103352724	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	47558270	103352724	30499171	108	38272											
CMKLR1	1240	broad.mit.edu	37	chr12	108686177	108686177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctgaagttgttgaagcagGatattttcccatgcaggttg	9	13	13	6	0	0	2	0	2	0	0	1	3	1	3	1	3	2	6	1	3	3	6			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:108686177G>A	ENST00000312143.7	-	3	926	c.563C>T	c.(562-564)tCc>tTc	p.S188F	CMKLR1_ENST00000412676.1_Missense_Mutation_p.S188F|CMKLR1_ENST00000550402.1_Missense_Mutation_p.S188F|CMKLR1_ENST00000397688.2_Missense_Mutation_p.S186F|CMKLR1_ENST00000552995.1_Missense_Mutation_p.S186F	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	188					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.S186F(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTTGAAGCAGGATATTTTCCC	0.557													6	41					0	0	0	0	A	108686177	G	A	108686177	3	1	212	1	0	0	0	0	1	0	0	0	3609	1174	41	2	562	2	CMKLR1	12	108686177	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	5333453	108686177	25165718	109	38273											
CENPJ	55835	broad.mit.edu	37	chr13	25483949	25483949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtaggatggttacggttttCttcttttaaattattttttt	7	24	7	3	1	2	0	0	0	2	0	2	1	2	1	0	3	1	3	0	3	5	11			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr13:25483949C>T	ENST00000381884.4	-	4	1029	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	CENPJ_ENST00000545981.1_Missense_Mutation_p.E282K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	282					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTACGGTTTTCTTCTTTTAAA	0.358													3	14					0	0	0	0	T	25483949	C	T	25483949	3	4	212	1	0	0	0	0	1	0	0	0	3263	922	32	2	3228	2	CENPJ	13	25483949	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08		25483949	89685929	110	38274											
KLHL1	57626	broad.mit.edu	37	chr13	70370888	70370888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctagaccatgtctgtgtgTtgacattggtggtaagacag	10	12	12	7	0	1	3	0	1	1	2	1	3	1	3	2	2	0	2	2	2	2	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr13:70370888T>C	ENST00000377844.4	-	7	2380	c.1621A>G	c.(1621-1623)Aca>Gca	p.T541A	KLHL1_ENST00000545028.1_Missense_Mutation_p.T348A	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	541					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGTCTGTGTGTTGACATTGGT	0.323													5	48					0	0	0	0	C	70370888	T	C	70370888	3	2	212	1	0	0	0	0	1	0	0	0	8417	1725	60	5	645	5	KLHL1	13	70370888	Missense_Mutation	SNP	T	TCGA-CR-7390-01A-11D-2012-08	44886939	70370888	44798990	111	38275											
SLC7A8	23428	broad.mit.edu	37	chr14	23608670	23608670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgccagcagctcctgggggGacattgcagtgacataagcg	10	7	14	10	1	0	1	0	1	0	0	1	2	1	2	2	3	5	3	2	3	1	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:23608670G>A	ENST00000316902.7	-	6	1600	c.875C>T	c.(874-876)tCc>tTc	p.S292F	SLC7A8_ENST00000453702.1_Missense_Mutation_p.S89F|SLC7A8_ENST00000422941.2_Missense_Mutation_p.S68F|SLC7A8_ENST00000529705.2_Missense_Mutation_p.S187F|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000469263.1_Intron	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	292					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CTCCTGGGGGGACATTGCAGT	0.517													19	130					0	0	0	0	A	23608670	G	A	23608670	3	1	212	1	0	0	0	0	1	0	0	0	14792	1174	41	2	756	2	SLC7A8	14	23608670	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08		23608670	83740870	112	38276											
MYH7	4625	broad.mit.edu	37	chr14	23902836	23902836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcatcaggcacgaagacatCcttcttgaggtcaaaaggcc	12	8	10	11	1	4	2	3	1	1	1	5	3	5	2	2	3	0	1	2	3	3	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:23902836C>T	ENST00000355349.3	-	3	268	c.106G>A	c.(106-108)Gat>Aat	p.D36N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	36	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		ACGAAGACATCCTTCTTGAGG	0.567													18	106					0	0	0	0	T	23902836	C	T	23902836	3	4	212	1	0	0	0	0	1	0	0	0	10109	855	30	2	5853	2	MYH7	14	23902836	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	294166	23902836	83446704	113	38277											
AP1G2	8906	broad.mit.edu	37	chr14	24030798	24030798	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgcttcctcatcagcctGagggccatctcgctccacaa	7	11	7	16	1	3	1	2	1	1	0	6	1	5	1	4	1	2	2	4	1	1	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:24030798G>A	ENST00000308724.5	-	17	2535	c.1780C>T	c.(1780-1782)Cag>Tag	p.Q594*	AP1G2_ENST00000397120.3_Nonsense_Mutation_p.Q594*|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	594					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TCATCAGCCTGAGGGCCATCT	0.557													8	36					0	0	0	0	A	24030798	G	A	24030798	4	1	212	1	0	0	0	0	0	1	0	0	734	1299	45	2	597	2	AP1G2	14	24030798	Nonsense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	127962	24030798	83318742	114	38278											
ARHGAP5	394	broad.mit.edu	37	chr14	32561108	32561108	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgagcactttagaagctgaAaaagtctatcagaaccatgt	15	10	8	8	0	2	4	1	2	1	2	2	4	2	4	1	0	3	2	1	0	6	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:32561108A>G	ENST00000345122.3	+	2	1548	c.1233A>G	c.(1231-1233)gaA>gaG	p.E411E	ARHGAP5_ENST00000539826.2_Silent_p.E411E|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.E411E|ARHGAP5_ENST00000556611.1_Silent_p.E411E	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	411	FF 2.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TAGAAGCTGAAAAAGTCTATC	0.368													37	75					0	0	0	0	G	32561108	A	G	32561108	2	3	212	1	0	0	0	0	0	0	0	1	888	11	1	5		5	ARHGAP5	14	32561108	Silent	SNP	A	TCGA-CR-7390-01A-11D-2012-08	8530310	32561108	74788432	115	38279											
LRFN5	145581	broad.mit.edu	37	chr14	42356819	42356819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggaagcttatttcaaatGcaacaagatctctggtgtat	14	12	9	6	0	2	1	1	0	1	1	3	2	2	2	0	2	3	3	0	2	7	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:42356819G>T	ENST00000554171.1	+	5	3423	c.991G>T	c.(991-993)Gca>Tca	p.A331S	LRFN5_ENST00000554120.1_Missense_Mutation_p.A331S|LRFN5_ENST00000298119.4_Missense_Mutation_p.A331S			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	331	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TATTTCAAATGCAACAAGATC	0.468										HNSCC(30;0.082)			11	77					0.000978159	0.00375388	1	0	T	42356819	G	T	42356819	3	4	212	1	0	0	0	0	1	0	0	0	9005	1319	46	4	993	4	LRFN5	14	42356819	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	9795711	42356819	64992721	116	38280											
SLC8A3	6547	broad.mit.edu	37	chr14	70515481	70515481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcaagcacctctcactctCacctgggacagaggtgccaa	11	8	8	14	0	3	1	3	0	2	1	5	2	3	2	3	2	2	1	3	2	2	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:70515481C>T	ENST00000533541.1	-	4	719	c.481G>A	c.(481-483)Gag>Aag	p.E161K	SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000381269.2_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000356921.2_Intron			P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	0					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTCTCACTCTCACCTGGGACA	0.488													4	20					0	0	0	0	T	70515481	C	T	70515481	3	4	212	1	0	0	0	0	1	0	0	0	14796	841	29	2		2	SLC8A3	14	70515481	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	28158662	70515481	36834059	117	38281											
FOS	2353	broad.mit.edu	37	chr14	75746698	75746698	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtctcctccgtggcccCatcgcagaccagagcccctc	5	7	8	21	3	1	2	0	0	1	2	6	2	2	2	8	1	1	1	8	1	0	0			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:75746698C>G	ENST00000303562.4	+	2	469	c.260C>G	c.(259-261)cCa>cGa	p.P87R	FOS_ENST00000535987.1_Missense_Mutation_p.P87R|FOS_ENST00000555686.1_5'UTR|FOS_ENST00000555242.1_Missense_Mutation_p.P87R|FOS_ENST00000554617.1_Missense_Mutation_p.P87R	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	87					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		TCCGTGGCCCCATCGCAGACC	0.672													8	64					0	0	0	0	G	75746698	C	G	75746698	3	3	212	1	0	0	0	0	1	0	0	0	6030	594	21	4	266	4	FOS	14	75746698	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	5231217	75746698	31602842	118	38282											
GPR68	8111	broad.mit.edu	37	chr14	91701408	91701408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccatctttgggcctgaaGgggccacactcctcatgggc	6	9	11	15	0	2	1	1	1	1	0	4	1	4	1	5	4	0	0	5	4	1	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:91701408G>A	ENST00000238699.3	-	2	281	c.17C>T	c.(16-18)cCt>cTt	p.P6L	GPR68_ENST00000535815.1_5'UTR|GPR68_ENST00000531499.2_5'UTR	NM_003485.3	NP_003476.3	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	0					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TGGGCCTGAAGGGGCCACACT	0.577													5	66					0	0	0	0	A	91701408	G	A	91701408	3	1	212	1	0	0	0	0	1	0	0	0	6756	1015	35	4		4	GPR68	14	91701408	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	15954710	91701408	15648132	119	38283											
TP53BP1	7158	broad.mit.edu	37	chr15	43762178	43762178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcaggagaggggggttttCtaactccactggttcaccac	9	9	13	10	0	2	1	1	0	1	1	3	2	3	1	2	6	1	3	2	6	1	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:43762178C>T	ENST00000263801.3	-	11	1504	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	TP53BP1_ENST00000450115.2_Missense_Mutation_p.E423K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E423K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E423K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	418					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGGGGTTTTCTAACTCCACT	0.483								Other conserved DNA damage response genes					19	118					0	0	0	0	T	43762178	C	T	43762178	3	4	212	1	0	0	0	0	1	0	0	0	16478	922	32	2	4738	2	TP53BP1	15	43762178	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08		43762178	58769214	120	38284											
HDC	3067	broad.mit.edu	37	chr15	50534531	50534531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcaggaaagctggggaCgctgtagaatttgatgagtt	11	11	14	5	1	1	3	1	2	0	1	1	5	1	5	0	3	1	5	0	3	3	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:50534531C>T	ENST00000267845.3	-	12	2317	c.1915G>A	c.(1915-1917)Gtc>Atc	p.V639I	HDC_ENST00000543581.1_Missense_Mutation_p.V606I	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	639					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.V639F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AAGCTGGGGACGCTGTAGAAT	0.507													23	125					0	0	0	0	T	50534531	C	T	50534531	3	4	212	1	0	0	0	0	1	0	0	0	7065	536	19	1	77	1	HDC	15	50534531	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	6772353	50534531	51996861	121	38285											
ITGA11	22801	broad.mit.edu	37	chr15	68623327	68623327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggaaccaaccacagaatCacagcgttgccaagggctcc	12	4	12	13	1	1	1	1	0	0	1	2	2	2	2	4	3	4	2	4	3	4	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:68623327C>T	ENST00000423218.2	-	15	1988	c.1893G>A	c.(1891-1893)gtG>gtA	p.V631V	ITGA11_ENST00000315757.7_Silent_p.V631V			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	631					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ACCACAGAATCACAGCGTTGC	0.547													7	33					0	0	0	0	T	68623327	C	T	68623327	2	4	212	1	0	0	0	0	0	0	0	1	7927	813	29	2		2	ITGA11	15	68623327	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	18088796	68623327	33908065	122	38286											
NPTN	27020	broad.mit.edu	37	chr15	73925476	73925476	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcttaccgttctgagcGgcgcctggccctgggaggag	4	7	15	15	4	1	1	0	1	1	0	1	3	1	3	5	4	2	2	5	4	1	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:73925476G>C	ENST00000351217.6	-	1	999	c.81C>G	c.(79-81)gcC>gcG	p.A27A	NPTN_ENST00000563691.1_Silent_p.A27A|NPTN_ENST00000562924.1_Silent_p.A27A|NPTN_ENST00000545878.1_Silent_p.A27A|NPTN_ENST00000542234.1_Silent_p.A27A|NPTN_ENST00000345330.4_Silent_p.A27A|NPTN_ENST00000564551.1_5'UTR|NPTN_ENST00000287226.8_Silent_p.A27A	NM_001161364.1|NM_017455.3	NP_001154836.1|NP_059429.1	Q9Y639	NPTN_HUMAN	neuroplastin	27					elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CGTTCTGAGCGGCGCCTGGCC	0.751													15	19					0	0	0	0	C	73925476	G	C	73925476	2	2	212	1	0	0	0	0	0	0	0	1	10672	1103	39	3		3	NPTN	15	73925476	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	5302149	73925476	28605916	123	38287											
ISLR2	57611	broad.mit.edu	37	chr15	74426446	74426446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgaagaccagatcctcGcggacccggcggaggagcag	10	2	16	13	5	0	2	0	0	0	2	2	6	1	5	4	5	1	1	4	5	1	0			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:74426446G>A	ENST00000361742.3	+	4	2120	c.1351G>A	c.(1351-1353)Gcg>Acg	p.A451T	ISLR2_ENST00000565159.1_Missense_Mutation_p.A451T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000435464.1_Missense_Mutation_p.A451T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A451T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A451T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A451T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A451T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	451					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCAGATCCTCGCGGACCCGGC	0.642													5	17					0	0	0	0	A	74426446	G	A	74426446	3	1	212	1	0	0	0	0	1	0	0	0	7912	1087	38	1	1353	1	ISLR2	15	74426446	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	500970	74426446	28104946	124	38288											
ARL6IP1	23204	broad.mit.edu	37	chr16	18806883	18806883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgcaaatttcatggaatCtttgctgttgttcagtggtc	7	17	10	7	0	3	0	2	0	1	0	4	1	3	1	0	2	3	5	0	2	2	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:18806883C>G	ENST00000304414.7	-	4	522	c.311G>C	c.(310-312)aGa>aCa	p.R104T	ARL6IP1_ENST00000562819.1_Intron|RP11-1035H13.3_ENST00000567078.2_Missense_Mutation_p.R104T|ARL6IP1_ENST00000546206.2_Missense_Mutation_p.R75T	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	104						integral to membrane	protein binding			breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						TTCATGGAATCTTTGCTGTTG	0.388													4	30					0	0	0	0	G	18806883	C	G	18806883	3	3	212	1	0	0	0	0	1	0	0	0	946	913	32	2	312	2	ARL6IP1	16	18806883	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08		18806883	71547870	125	38289											
CD2BP2	10421	broad.mit.edu	37	chr16	30364884	30364884	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccaccatctggtcggccaAcccggagagccggtccaggc	7	4	14	16	3	1	1	0	0	1	1	3	2	2	1	6	6	2	0	6	6	1	0			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:30364884A>C	ENST00000305596.3	-	5	788	c.613T>G	c.(613-615)Ttg>Gtg	p.L205V	CD2BP2_ENST00000569466.1_Missense_Mutation_p.L205V	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	205					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TGGTCGGCCAACCCGGAGAGC	0.657													10	22					0	0	0	0	C	30364884	A	C	30364884	3	2	212	1	0	0	0	0	1	0	0	0	3024	40	2	5	424	5	CD2BP2	16	30364884	Missense_Mutation	SNP	A	TCGA-CR-7390-01A-11D-2012-08	11558001	30364884	59989869	126	38290											
ITFG1	81533	broad.mit.edu	37	chr16	47196540	47196540	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcacgttgtatggtagttGgagagctaaatgtgcggatt	11	12	14	4	2	0	1	0	0	0	1	0	3	0	2	0	3	3	6	0	3	5	6			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:47196540G>A	ENST00000320640.6	-	15	1717	c.1489C>T	c.(1489-1491)Caa>Taa	p.Q497*	RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Nonsense_Mutation_p.Q384*|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	497						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TATGGTAGTTGGAGAGCTAAA	0.393													19	77					0	0	0	0	A	47196540	G	A	47196540	4	1	212	1	0	0	0	0	0	1	0	0	7922	1357	47	4	365	4	ITFG1	16	47196540	Nonsense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	16831656	47196540	43158213	127	38291											
CPNE2	221184	broad.mit.edu	37	chr16	57147238	57147238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcaacaacctcaacccCgccttctccaagaagttcgt	11	8	6	16	3	3	1	2	0	1	1	5	2	3	1	5	0	3	1	5	0	5	2	rs138897886		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:57147238C>T	ENST00000535318.2	+	4	580	c.219C>T	c.(217-219)ccC>ccT	p.P73P	CPNE2_ENST00000565874.1_Silent_p.P73P|CPNE2_ENST00000537605.1_5'UTR|CPNE2_ENST00000290776.8_Silent_p.P73P			Q96FN4	CPNE2_HUMAN	copine II	73	C2 1.							p.P73P(1)		central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				ACCTCAACCCCGCCTTCTCCA	0.552													9	66					0	0	0	0	T	57147238	C	T	57147238	2	4	212	1	0	0	0	0	0	0	0	1	3842	639	23	1		1	CPNE2	16	57147238	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	9950698	57147238	33207515	128	38292											
FOXC2	2303	broad.mit.edu	37	chr16	86600960	86600960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcaggcgcgctactccGtgtccgaccccaacgccctg	6	6	11	18	5	0	0	0	0	0	0	2	1	2	0	5	1	3	3	5	1	2	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:86600960G>A	ENST00000320354.4	+	1	104	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	7					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GCGCTACTCCGTGTCCGACCC	0.721									Late-onset Hereditary Lymphedema				15	55					0	0	0	0	A	86600960	G	A	86600960	3	1	212	1	0	0	0	0	1	0	0	0	6040	1145	40	1	21	1	FOXC2	16	86600960	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	29453722	86600960	3753793	129	38293											
ANKRD11	29123	broad.mit.edu	37	chr16	89348862	89348862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctttcttggctcgctctCggtcgtggctcttcttggat	1	18	10	12	3	5	0	0	0	5	0	9	1	5	1	0	4	0	3	0	4	0	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:89348862C>T	ENST00000301030.4	-	9	4548	c.4088G>A	c.(4087-4089)cGa>cAa	p.R1363Q	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1363Q	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1363	Lys-rich.					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)		GGCTCGCTCTCGGTCGTGGCT	0.562													20	106					0	0	0	0	T	89348862	C	T	89348862	3	4	212	1	0	0	0	0	1	0	0	0	639	884	31	1	3923	1	ANKRD11	16	89348862	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	2747902	89348862	1005891	130	38294											
ANKRD11	29123	broad.mit.edu	37	chr16	89351117	89351117	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcgccctccgcgctggacagGaaggggctcttcttctccga	5	8	13	15	4	3	0	0	0	3	0	5	3	4	2	3	4	0	2	3	4	1	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:89351117G>A	ENST00000301030.4	-	9	2293	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	ANKRD11_ENST00000378330.2_Silent_p.F611F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	611						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)		CGCTGGACAGGAAGGGGCTCT	0.537													12	65					0	0	0	0	A	89351117	G	A	89351117	2	1	212	1	0	0	0	0	0	0	0	1	639	1165	41	2		2	ANKRD11	16	89351117	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	2255	89351117	1003636	131	38295											
TP53	7157	broad.mit.edu	37	chr17	7579369	7579369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcccagacggaaaccgtaGctgccctggtaggttttctg	9	9	12	11	2	1	1	0	0	1	1	1	2	1	2	3	3	4	4	3	3	4	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:7579369G>C	ENST00000420246.2	-	4	450	c.318C>G	c.(316-318)agC>agG	p.S106R	TP53_ENST00000359597.4_Missense_Mutation_p.S106R|TP53_ENST00000455263.2_Missense_Mutation_p.S106R|TP53_ENST00000269305.4_Missense_Mutation_p.S106R|TP53_ENST00000445888.2_Missense_Mutation_p.S106R|TP53_ENST00000413465.2_Missense_Mutation_p.S106R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	106	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		S -> G (in a sporadic cancer; somatic mutation).|S -> R (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.S106R(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAAACCGTAGCTGCCCTGGT	0.617		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			42	29					0	0	0	0	C	7579369	G	C	7579369	3	2	212	1	0	0	0	0	1	0	0	0	16476	962	34	4	984	4	TP53	17	7579369	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08		7579369	73615841	132	38296											
MYH4	4622	broad.mit.edu	37	chr17	10352202	10352202	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcaaagtttctttgcttCttatcgagagctatgcaggc	8	16	9	8	1	3	1	1	0	2	1	4	2	3	1	0	1	3	4	0	1	3	6			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:10352202C>T	ENST00000255381.2	-	31	4454	c.4344G>A	c.(4342-4344)aaG>aaA	p.K1448K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1448					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCTTTGCTTCTTATCGAGAG	0.433													4	52					0	0	0	0	T	10352202	C	T	10352202	2	4	212	1	0	0	0	0	0	0	0	1	10107	912	32	2		2	MYH4	17	10352202	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	2772833	10352202	70843008	133	38297											
TMEM132E	124842	broad.mit.edu	37	chr17	32964569	32964569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggcccgccgggctctgCgctacccgcaccggaggctc	4	5	14	18	5	1	0	0	0	1	0	2	1	1	1	4	4	3	5	4	4	1	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:32964569C>T	ENST00000321639.5	+	10	2601	c.2273C>T	c.(2272-2274)gCg>gTg	p.A758V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	758						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCGGGCTCTGCGCTACCCGCA	0.746													5	17					0	0	0	0	T	32964569	C	T	32964569	3	4	212	1	0	0	0	0	1	0	0	0	16142	768	27	1	2311	1	TMEM132E	17	32964569	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	22612367	32964569	48230641	134	38298											
KRT37	8688	broad.mit.edu	37	chr17	39580043	39580043	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtcatcagcagccagcttCgcgttgtcaatttgtacaat	11	12	8	10	2	3	0	3	0	0	0	4	0	3	0	1	0	4	4	1	0	4	4			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:39580043C>T	ENST00000225550.3	-	2	545	c.546G>A	c.(544-546)gcG>gcA	p.A182A	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	182	Coil 1B.|Rod.					intermediate filament	structural molecule activity	p.A182A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CAGCCAGCTTCGCGTTGTCAA	0.493													12	63					0	0	0	0	T	39580043	C	T	39580043	2	4	212	1	0	0	0	0	0	0	0	1	8526	871	31	1		1	KRT37	17	39580043	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	6615474	39580043	41615167	135	38299											
KRT14	3861	broad.mit.edu	37	chr17	39742774	39742785	+	In_Frame_Del	DEL	CAAAGCCACCAC	CAAAGCCACCAC	-																															cagaagcccatcaccaccagCaaagccaccaccaaagccac																								rs57278315		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:39742774_39742785delCAAAGCCACCAC	ENST00000167586.6	-	1	388_399	c.302_313delGTGGTGGCTTTG	c.(301-315)gct>g	p.GGGFA101del		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	101	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				tcaccaccagcaaagccaccaccaaagccacc	0.604													12	91	---	---	---	---					-	39742785	CAAAGCCACCAC	-	39742774	7	5	212	1	0	1	0	1	0	0	0	0	8503	710	25	0	1137	0	KRT14	17	39742774	In_Frame_Del	DEL	CAAAGCCACCAC	TCGA-CR-7390-01A-11D-2012-08	162731	39742774	41452436	136	38300											
NKIRAS2	28511	broad.mit.edu	37	chr17	40175777	40175777	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagaaggtgaagctgtggGaggtgtcagtggcggaccgg	9	6	20	6	2	1	2	1	1	0	1	1	5	1	4	1	6	1	1	1	6	2	0			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:40175777G>T	ENST00000307641.5	+	4	1063	c.442G>T	c.(442-444)Gag>Tag	p.E148*	NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393885.4_Nonsense_Mutation_p.E148*|NKIRAS2_ENST00000449471.4_Nonsense_Mutation_p.E92*|NKIRAS2_ENST00000393880.1_Nonsense_Mutation_p.E148*|NKIRAS2_ENST00000393881.3_Nonsense_Mutation_p.E148*|NKIRAS2_ENST00000393884.2_Nonsense_Mutation_p.E146*|NKIRAS2_ENST00000316082.4_Nonsense_Mutation_p.E186*|NKIRAS2_ENST00000462043.2_3'UTR	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	148	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GAAGCTGTGGGAGGTGTCAGT	0.607													12	64					2.61681e-11	1.10237e-10	1	0	T	40175777	G	T	40175777	4	4	212	1	0	0	0	0	0	1	0	0	10515	1175	41	2	452	2	NKIRAS2	17	40175777	Nonsense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	433003	40175777	41019433	137	38301											
KPNB1	3837	broad.mit.edu	37	chr17	45745744	45745744	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgtatcttggaaggaccaGagcccagtcagctcaaacca	12	8	10	11	0	3	1	2	0	1	1	3	3	3	3	3	2	3	3	3	2	3	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:45745744G>C	ENST00000290158.4	+	10	1599	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q	KPNB1_ENST00000535458.2_Missense_Mutation_p.E253Q|KPNB1_ENST00000540627.1_Missense_Mutation_p.E253Q|KPNB1_ENST00000537679.1_Missense_Mutation_p.E182Q	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	398	Ran-GTP binding.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GGAAGGACCAGAGCCCAGTCA	0.423													9	65					0	0	0	0	C	45745744	G	C	45745744	3	2	212	1	0	0	0	0	1	0	0	0	8487	943	33	2	1230	2	KPNB1	17	45745744	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	5569967	45745744	35449466	138	38302											
MPO	4353	broad.mit.edu	37	chr17	56355308	56355308	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctggttgacggccagcaGccccagctggttggacatgt	6	8	15	12	2	0	1	0	1	0	0	0	2	0	2	3	4	3	5	3	4	0	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:56355308G>A	ENST00000340482.3	-	6	1356	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000225275.3_Silent_p.L362L			P05164	PERM_HUMAN	myeloperoxidase	362					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	ACGGCCAGCAGCCCCAGCTGG	0.647													12	63					0	0	0	0	A	56355308	G	A	56355308	2	1	212	1	0	0	0	0	0	0	0	1	9802	962	34	4		4	MPO	17	56355308	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	10609564	56355308	24839902	139	38303											
C17orf77	146723	broad.mit.edu	37	chr17	72588200	72588200	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatggatggatgaattggcGctgtcattttccctgacatg	8	13	12	8	1	1	2	1	2	0	0	2	4	2	4	1	3	0	2	1	3	1	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:72588200G>A	ENST00000392620.1	+	3	377	c.15G>A	c.(13-15)gcG>gcA	p.A5A	CD300LD_ENST00000375352.1_Intron|C17orf77_ENST00000328023.2_Silent_p.A5A	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	5						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ATGAATTGGCGCTGTCATTTT	0.453													21	159					0	0	0	0	A	72588200	G	A	72588200	2	1	212	1	0	0	0	0	0	0	0	1	1898	1074	38	1		1	C17orf77	17	72588200	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	16232892	72588200	8607010	140	38304											
GGA3	23163	broad.mit.edu	37	chr17	73235980	73235980	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaacttttggggccaaGgctggggccactccagtaga	8	8	14	11	0	1	1	1	0	0	1	2	1	2	1	3	6	1	3	3	6	3	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:73235980G>A	ENST00000245541.6	-	13	1689	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A	GGA3_ENST00000578348.1_Silent_p.A369A|GGA3_ENST00000538886.1_Silent_p.A369A|GGA3_ENST00000351904.7_Silent_p.A458A|GGA3_ENST00000582717.1_Silent_p.A419A|GGA3_ENST00000582486.1_Silent_p.A419A	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	491	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TTGGGGCCAAGGCTGGGGCCA	0.637													5	33					0	0	0	0	A	73235980	G	A	73235980	2	1	212	1	0	0	0	0	0	0	0	1	6405	987	35	4		4	GGA3	17	73235980	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	647780	73235980	7959230	141	38305											
TNRC6C	57690	broad.mit.edu	37	chr17	76045219	76045219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaataatggcaccaatggcGcactcgtccaaagcccttct	11	8	8	14	2	1	0	0	0	1	0	3	0	2	0	3	2	1	3	3	2	4	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:76045219G>A	ENST00000335749.4	+	3	645	c.76G>A	c.(76-78)Gca>Aca	p.A26T	TNRC6C_ENST00000541771.1_Missense_Mutation_p.A26T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A26T|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A26T|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A26T|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A26T	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	26	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CACCAATGGCGCACTCGTCCA	0.552													13	74					0	0	0	0	A	76045219	G	A	76045219	3	1	212	1	0	0	0	0	1	0	0	0	16436	1087	38	1	78	1	TNRC6C	17	76045219	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	2809239	76045219	5149991	142	38306											
LAMA3	3909	broad.mit.edu	37	chr18	21330996	21330996	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcgttttcttagaaccaatAcgcttcttggacacctcatc	9	14	6	12	2	3	1	1	0	2	1	4	2	3	2	2	1	3	2	2	1	4	6			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr18:21330996A>C	ENST00000313654.9	+	5	1040	c.799A>C	c.(799-801)Acg>Ccg	p.T267P	LAMA3_ENST00000399516.3_Missense_Mutation_p.T267P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	267	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGAACCAATACGCTTCTTGG	0.438													12	83					0	0	0	0	C	21330996	A	C	21330996	3	2	212	1	0	0	0	0	1	0	0	0	8660	391	14	5	817	5	LAMA3	18	21330996	Missense_Mutation	SNP	A	TCGA-CR-7390-01A-11D-2012-08		21330996	56746252	143	38307											
DOCK6	57572	broad.mit.edu	37	chr19	11348922	11348922	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactcgcacagcaaggttgcGcacggagccctggcggctgc	7	5	14	15	4	0	0	0	0	0	0	1	1	0	1	1	4	4	5	1	4	1	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:11348922G>C	ENST00000294618.7	-	15	1713	c.1702C>G	c.(1702-1704)Cgc>Ggc	p.R568G	C19orf80_ENST00000591200.1_Intron	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	568	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCAAGGTTGCGCACGGAGCCC	0.672													9	38					0	0	0	0	C	11348922	G	C	11348922	3	2	212	1	0	0	0	0	1	0	0	0	4727	1087	38	3	4577	3	DOCK6	19	11348922	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08		11348922	47780061	144	38308											
ZNF43	7594	broad.mit.edu	37	chr19	21992242	21992242	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcacatttgcagaaattCactctggtatgaattatttt	11	19	5	6	0	3	2	2	1	1	1	3	2	3	2	0	1	1	2	0	1	4	8			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:21992242C>A	ENST00000594012.1	-	7	1093	c.579G>T	c.(577-579)gtG>gtT	p.V193V	ZNF43_ENST00000354959.4_Silent_p.V199V|ZNF43_ENST00000598381.1_Silent_p.V193V|ZNF43_ENST00000595461.1_Silent_p.V193V	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGCAGAAATTCACTCTGGTAT	0.333													9	40					0.000442599	0.00171654	1	0	A	21992242	C	A	21992242	2	1	212	1	0	0	0	0	0	0	0	1	17998	813	29	2		2	ZNF43	19	21992242	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	10643320	21992242	37136741	145	38309											
ZNF536	9745	broad.mit.edu	37	chr19	30936342	30936342	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacctgcagggtcctgggAacatgaaggagaagcccacc	13	5	12	11	0	0	2	0	1	0	1	1	4	1	3	4	3	4	1	4	3	4	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:30936342A>G	ENST00000355537.3	+	2	2020	c.1873A>G	c.(1873-1875)Aac>Gac	p.N625D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGTCCTGGGAACATGAAGGA	0.587													22	108					0	0	0	0	G	30936342	A	G	30936342	3	3	212	1	0	0	0	0	1	0	0	0	18069	246	9	5	1875	5	ZNF536	19	30936342	Missense_Mutation	SNP	A	TCGA-CR-7390-01A-11D-2012-08	8944100	30936342	28192641	146	38310											
SIPA1L3	23094	broad.mit.edu	37	chr19	38600875	38600875	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccctttcccagctgctacgGaagaggcacataggaaatga	12	7	11	11	1	0	2	0	1	0	1	1	4	1	4	2	3	3	3	2	3	4	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:38600875G>A	ENST00000222345.6	+	8	2651	c.2142G>A	c.(2140-2142)cgG>cgA	p.R714R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	714	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCTGCTACGGAAGAGGCACA	0.617													12	84					0	0	0	0	A	38600875	G	A	38600875	2	1	212	1	0	0	0	0	0	0	0	1	14419	1161	41	2		2	SIPA1L3	19	38600875	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08	7664533	38600875	20528108	147	38311											
PRR12	57479	broad.mit.edu	37	chr19	50098071	50098071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcttccttcggcagccGccccttcccagtgccctcgt	2	9	9	21	4	0	0	0	0	0	0	4	0	2	0	7	2	2	2	7	2	0	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:50098071G>A	ENST00000418929.2	+	4	491	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	573	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)		TTCGGCAGCCGCCCCTTCCCA	0.662													6	13					0	0	0	0	A	50098071	G	A	50098071	3	1	212	1	0	0	0	0	1	0	0	0	12664	1087	38	1	493	1	PRR12	19	50098071	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	11497196	50098071	9030912	148	38312											
NLRP8	126205	broad.mit.edu	37	chr19	56490773	56490773	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaggctggaaaactgcCtgttcacctccatctgctgc	8	10	9	14	0	3	0	2	0	1	0	4	1	4	1	3	2	4	3	3	2	2	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:56490773C>T	ENST00000291971.3	+	9	2961	c.2890C>T	c.(2890-2892)Ctg>Ttg	p.L964L	NLRP8_ENST00000590542.1_Silent_p.L945L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	964						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGAAAACTGCCTGTTCACCTC	0.517													29	48					0	0	0	0	T	56490773	C	T	56490773	2	4	212	1	0	0	0	0	0	0	0	1	10553	680	24	4		4	NLRP8	19	56490773	Silent	SNP	C	TCGA-CR-7390-01A-11D-2012-08	6392702	56490773	2638210	149	38313											
ZNF667	63934	broad.mit.edu	37	chr19	56953462	56953462	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctctccagcatgaattCttttatgtacaacaaagact	12	16	4	9	0	2	2	0	1	2	1	4	2	3	2	1	0	3	2	1	0	5	6			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:56953462C>A	ENST00000504904.3	-	7	1621	c.902G>T	c.(901-903)aGa>aTa	p.R301I	ZNF667_ENST00000292069.6_Missense_Mutation_p.R301I|ZNF667_ENST00000342634.3_Missense_Mutation_p.R429I|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AGCATGAATTCTTTTATGTAC	0.328													14	54					0.000219431	0.000855549	1	0	A	56953462	C	A	56953462	3	1	212	1	0	0	0	0	1	0	0	0	18169	913	32	2	934	2	ZNF667	19	56953462	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	462689	56953462	2175521	150	38314											
ZNF667	63934	broad.mit.edu	37	chr19	56953707	56953707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctttccatcatgaattctCatatgtagaataagggttgt	11	16	7	7	0	2	2	2	1	1	1	5	2	4	2	2	1	0	2	2	1	5	6	rs140879761		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:56953707C>G	ENST00000504904.3	-	7	1376	c.657G>C	c.(655-657)atG>atC	p.M219I	ZNF667_ENST00000292069.6_Missense_Mutation_p.M219I|ZNF667_ENST00000342634.3_Missense_Mutation_p.M347I|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CATGAATTCTCATATGTAGAA	0.373													26	69					0	0	0	0	G	56953707	C	G	56953707	3	3	212	1	0	0	0	0	1	0	0	0	18169	826	29	2	1179	2	ZNF667	19	56953707	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	245	56953707	2175276	151	38315											
IDH3B	3420	broad.mit.edu	37	chr20	2640753	2640753	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaaccaggccagcagccaGattgtcaataatgttcccat	12	8	7	14	0	1	1	1	0	0	1	2	1	2	1	5	1	3	2	5	1	3	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr20:2640753G>A	ENST00000380843.4	-	9	868	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Silent_p.L280L	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	280					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CCAGCAGCCAGATTGTCAATA	0.517													18	89					0	0	0	0	A	2640753	G	A	2640753	2	1	212	1	0	0	0	0	0	0	0	1	7550	933	33	2		2	IDH3B	20	2640753	Silent	SNP	G	TCGA-CR-7390-01A-11D-2012-08		2640753	60384767	152	38316											
SLC4A11	83959	broad.mit.edu	37	chr20	3214600	3214600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgactgctggtaccgcaccCctgtcactgtggcggtgacc	6	8	12	15	3	1	1	1	1	0	0	1	2	1	1	4	3	2	3	4	3	1	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr20:3214600C>T	ENST00000380059.3	-	6	802	c.701G>A	c.(700-702)gGg>gAg	p.G234E	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.G207E|SLC4A11_ENST00000539553.1_Missense_Mutation_p.G191E	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	207					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTACCGCACCCCTGTCACTGT	0.622													18	81					0	0	0	0	T	3214600	C	T	3214600	3	4	212	1	0	0	0	0	1	0	0	0	14740	623	22	4	2115	4	SLC4A11	20	3214600	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	573847	3214600	59810920	153	38317											
SON	6651	broad.mit.edu	37	chr21	34923284	34923284	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttcggcaactagggcactgGagttgtcggggcagcctgtg	6	9	16	10	2	0	0	0	0	0	0	2	1	0	1	1	5	2	4	1	5	2	3			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr21:34923284G>C	ENST00000356577.4	+	3	2222	c.1747G>C	c.(1747-1749)Gag>Cag	p.E583Q	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.E583Q|SON_ENST00000381679.4_Missense_Mutation_p.E583Q|SON_ENST00000290239.6_Missense_Mutation_p.E583Q	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	583					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TAGGGCACTGGAGTTGTCGGG	0.667													12	50					0	0	0	0	C	34923284	G	C	34923284	3	2	212	1	0	0	0	0	1	0	0	0	15014	1175	41	2	1757	2	SON	21	34923284	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08		34923284	13206611	154	38318											
CABIN1	23523	broad.mit.edu	37	chr22	24567922	24567922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggcctccccggccacAcaggcctgaagctaccccca	7	4	9	21	1	0	1	0	1	0	0	1	1	1	1	8	3	2	1	8	3	2	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:24567922A>G	ENST00000398319.2	+	34	6384	c.5999A>G	c.(5998-6000)cAc>cGc	p.H2000R	CABIN1_ENST00000263119.5_Missense_Mutation_p.H2000R|CABIN1_ENST00000337989.7_Missense_Mutation_p.H425R|CABIN1_ENST00000405822.2_Missense_Mutation_p.H1921R|CABIN1_ENST00000485008.1_3'UTR	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2000					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCCCGGCCACACAGGCCTGAA	0.657													9	42					0	0	0	0	G	24567922	A	G	24567922	3	3	212	1	0	0	0	0	1	0	0	0	2553	159	6	5	6129	5	CABIN1	22	24567922	Missense_Mutation	SNP	A	TCGA-CR-7390-01A-11D-2012-08		24567922	26736644	155	38319											
PIWIL3	440822	broad.mit.edu	37	chr22	25120933	25120933	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcttgaagctgaccatctcCcactccatcccgatacacaa	11	9	5	16	1	1	2	0	2	1	0	4	3	3	2	4	0	3	2	4	0	3	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:25120933C>G	ENST00000332271.5	-	18	2595	c.2179G>C	c.(2179-2181)Gga>Cga	p.G727R	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.G609R|PIWIL3_ENST00000527701.1_Missense_Mutation_p.G609R	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	727	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGACCATCTCCCACTCCATCC	0.393													10	32					0	0	0	0	G	25120933	C	G	25120933	3	3	212	1	0	0	0	0	1	0	0	0	12031	632	22	4	485	4	PIWIL3	22	25120933	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	553011	25120933	26183633	156	38320											
YWHAH	7533	broad.mit.edu	37	chr22	32352249	32352249	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcattgagcagaaaaccAtggctgatggaaacgaaaag	17	5	12	7	1	0	3	0	2	0	1	0	5	0	4	1	2	4	4	1	2	5	1			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:32352249A>G	ENST00000248975.5	+	2	484	c.211A>G	c.(211-213)Atg>Gtg	p.M71V	YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	71					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						GCAGAAAACCATGGCTGATGG	0.468													12	70					0	0	0	0	G	32352249	A	G	32352249	3	3	212	1	0	0	0	0	1	0	0	0	17600	217	8	5	217	5	YWHAH	22	32352249	Missense_Mutation	SNP	A	TCGA-CR-7390-01A-11D-2012-08	7231316	32352249	18952317	157	38321											
TLR8	51311	broad.mit.edu	37	chrX	12938009	12938009	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatagatcgttttgcttttCaaaacttgacccaacttcga	12	15	5	9	2	1	2	1	1	0	1	3	3	1	2	1	0	3	2	1	0	5	8			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chrX:12938009C>G	ENST00000218032.6	+	2	937	c.850C>G	c.(850-852)Caa>Gaa	p.Q284E	TLR8_ENST00000311912.5_Missense_Mutation_p.Q302E	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	284					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTTTGCTTTTCAAAACTTGAC	0.438													14	19					0	0	0	0	G	12938009	C	G	12938009	3	3	212	1	0	0	0	0	1	0	0	0	16051	827	29	2	856	2	TLR8	23	12938009	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08		12938009	142332551	158	38322											
PPEF1	5475	broad.mit.edu	37	chrX	18748392	18748392	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgccctcaccatcttccagtCcatcgaatatgctgatgaac	10	11	6	14	1	2	2	1	2	1	0	5	3	4	2	4	0	3	1	4	0	3	2			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chrX:18748392C>G	ENST00000361511.4	+	5	634	c.140C>G	c.(139-141)tCc>tGc	p.S47C	PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000543630.1_Missense_Mutation_p.S47C|PPEF1_ENST00000359763.6_Missense_Mutation_p.S47C|PPEF1_ENST00000349874.5_Missense_Mutation_p.S47C|PPEF1_ENST00000471570.1_3'UTR	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	47					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATCTTCCAGTCCATCGAATAT	0.443													18	28					0	0	0	0	G	18748392	C	G	18748392	3	3	212	1	0	0	0	0	1	0	0	0	12378	855	30	2	146	2	PPEF1	23	18748392	Missense_Mutation	SNP	C	TCGA-CR-7390-01A-11D-2012-08	5810383	18748392	136522168	159	38323											
WNK3	65267	broad.mit.edu	37	chrX	54259359	54259359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggaatctcagtagattGggttttgctatctttaattg	11	16	9	5	0	2	1	1	0	2	1	3	2	2	2	0	2	1	3	0	2	5	8			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chrX:54259359G>T	ENST00000354646.2	-	21	5161	c.4723C>A	c.(4723-4725)Caa>Aaa	p.Q1575K	WNK3_ENST00000375159.2_Missense_Mutation_p.Q1575K|WNK3_ENST00000375169.3_Missense_Mutation_p.Q1528K	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1528					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.Q1575*(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCAGTAGATTGGGTTTTGCTA	0.468													18	28					8.10497e-08	3.30052e-07	1	0	T	54259359	G	T	54259359	3	4	212	1	0	0	0	0	1	0	0	0	17475	1357	47	4	695	4	WNK3	23	54259359	Missense_Mutation	SNP	G	TCGA-CR-7390-01A-11D-2012-08	35510967	54259359	101011201	160	38324											
SEC22B	9554	broad.mit.edu	37	chr1	145109975	145109976	+	RNA	INS	-	-	C																															cacatgtgacaggaactttgINSctaaagatctacttgattgg																								rs67257307		TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													3	3	---	---	---	---					C	145109976	-	C	145109975	6	5	213	0	1	1	1	0	0	0	0	0	14076	1334	46	0		0	SEC22B	1	145109975	RNA	INS	-	TCGA-CR-7391-01A-11D-2012-08		145109975	104140646	1	38325											
OR14I1	401994	broad.mit.edu	37	chr1	248844912	248844912	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggagaaggcttttgctcGactctgtcctgaagggattc	7	12	14	8	1	1	2	0	1	1	1	4	5	2	3	1	4	1	2	1	4	2	3			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr1:248844912G>A	ENST00000342623.3	-	1	717	c.694C>T	c.(694-696)Cga>Tga	p.R232*		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GCTTTTGCTCGACTCTGTCCT	0.493													5	78					0	0	0	0	A	248844912	G	A	248844912	4	1	213	1	0	0	0	0	0	1	0	0	11018	1066	37	1	245	1	OR14I1	1	248844912	Nonsense_Mutation	SNP	G	TCGA-CR-7391-01A-11D-2012-08	103734937	248844912	405709	2	38326											
RANBP2	5903	broad.mit.edu	37	chr2	109352601	109352601	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttggagtctgataaaagTgactggcgagcaaccaatac	13	10	11	7	1	1	2	0	2	1	0	1	4	1	3	1	2	3	2	1	2	5	3			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr2:109352601T>C	ENST00000283195.6	+	6	804	c.678T>C	c.(676-678)agT>agC	p.S226S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	226					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTGATAAAAGTGACTGGCGAG	0.368													7	269					0	0	0	0	C	109352601	T	C	109352601	2	2	213	1	0	0	0	0	0	0	0	1	13110	1693	59	5		5	RANBP2	2	109352601	Silent	SNP	T	TCGA-CR-7391-01A-11D-2012-08		109352601	133846772	3	38327											
ECE2	9718	broad.mit.edu	37	chr3	184009925	184009925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagccctgcccgcttcCgcgtgctgggcactctctcc	3	8	9	21	3	1	0	0	0	1	0	4	0	3	0	5	1	3	3	5	1	0	1			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr3:184009925C>T	ENST00000402825.3	+	19	2551	c.2551C>T	c.(2551-2553)Cgc>Tgc	p.R851C	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.R704C|ECE2_ENST00000357474.5_Missense_Mutation_p.R779C|ECE2_ENST00000404464.3_Missense_Mutation_p.R733C	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	851	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.R779C(1)|p.R704C(1)|p.R851C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCCCGCTTCCGCGTGCTGGG	0.677													8	61					0	0	0	0	T	184009925	C	T	184009925	3	4	213	1	0	0	0	0	1	0	0	0	4926	652	23	1	3189	1	ECE2	3	184009925	Missense_Mutation	SNP	C	TCGA-CR-7391-01A-11D-2012-08		184009925	14012505	4	38328											
C8orf58	541565	broad.mit.edu	37	chr8	22459568	22459570	+	In_Frame_Del	DEL	GCT	GCT	-																															cgggggcaggggccatgggaGctgctaagccagacagagca																										TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr8:22459568_22459570delGCT	ENST00000409586.3	+	4	861_863	c.741_743delGCT	c.(739-744)gag>ga	p.EL247del	C8orf58_ENST00000289989.5_In_Frame_Del_p.EL247del	NM_001013842.2|NM_001198827.1|NM_173686.2	NP_001013864.1|NP_001185756.1|NP_775957.2	Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	247										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GGCCATGGGAGCTGCTAAGCCAG	0.64													6	5	---	---	---	---					-	22459570	GCT	-	22459568	7	5	213	1	0	1	0	1	0	0	0	0	2458	962	34	0	755	0	C8orf58	8	22459568	In_Frame_Del	DEL	GCT	TCGA-CR-7391-01A-11D-2012-08		22459568	123904454	5	38329											
TEX15	56154	broad.mit.edu	37	chr8	30701885	30701885	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcaagtcagactgcgagTctttactaactttaatttcc	11	15	6	9	1	3	1	2	0	1	1	4	2	4	1	1	0	3	0	1	0	4	6			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr8:30701885T>A	ENST00000256246.2	-	1	4723	c.4649A>T	c.(4648-4650)gAc>gTc	p.D1550V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1550										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGACTGCGAGTCTTTACTAAC	0.383													8	126					0	0	0	0	A	30701885	T	A	30701885	3	1	213	1	0	0	0	0	1	0	0	0	15873	1667	58	5	3736	5	TEX15	8	30701885	Missense_Mutation	SNP	T	TCGA-CR-7391-01A-11D-2012-08	8242317	30701885	115662137	6	38330											
EPPK1	83481	broad.mit.edu	37	chr8	144946714	144946714	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccgccccgcccatggaGcggaaggtgatcttgagggg	7	6	15	13	3	2	2	1	2	1	0	2	4	2	4	4	5	1	0	4	5	1	1			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr8:144946714G>A	ENST00000525985.1	-	2	779	c.708C>T	c.(706-708)cgC>cgT	p.R236R				P58107	EPIPL_HUMAN	epiplakin 1	236						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCATGGAGCGGAAGGTGA	0.682													3	15					0	0	0	0	A	144946714	G	A	144946714	2	1	213	1	0	0	0	0	0	0	0	1	5228	958	34	4		4	EPPK1	8	144946714	Silent	SNP	G	TCGA-CR-7391-01A-11D-2012-08	114244829	144946714	1417308	7	38331											
ANK3	288	broad.mit.edu	37	chr10	61835630	61835630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttaaaggtgaagatattAgcggtgctgctgatgtaata	13	13	11	4	1	0	3	0	2	0	1	0	3	0	3	0	2	3	3	0	2	7	6			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr10:61835630A>G	ENST00000280772.1	-	37	5200	c.5009T>C	c.(5008-5010)cTa>cCa	p.L1670P	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1670	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGAAGATATTAGCGGTGCTGC	0.388													3	84					0	0	0	0	G	61835630	A	G	61835630	3	3	213	1	0	0	0	0	1	0	0	0	622	420	15	5	8465	5	ANK3	10	61835630	Missense_Mutation	SNP	A	TCGA-CR-7391-01A-11D-2012-08		61835630	73699117	8	38332											
SERPING1	710	broad.mit.edu	37	chr11	57382046	57382046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcgagtatatgaccccAgggcctgagacctgcaggat	9	7	15	10	1	0	2	0	2	0	1	0	5	0	3	4	4	1	2	4	4	2	2			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr11:57382046A>G	ENST00000403558.1	+	7	1990	c.1624A>G	c.(1624-1626)Agg>Ggg	p.R542G	SERPING1_ENST00000340687.6_Missense_Mutation_p.R462G|SERPING1_ENST00000378323.4_Missense_Mutation_p.R504G|SERPING1_ENST00000378324.2_Missense_Mutation_p.R447G|SERPING1_ENST00000278407.4_Missense_Mutation_p.R499G	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	499					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ATATGACCCCAGGGCCTGAGA	0.622													3	31					0	0	0	0	G	57382046	A	G	57382046	3	3	213	1	0	0	0	0	1	0	0	0	14203	179	7	5	1521	5	SERPING1	11	57382046	Missense_Mutation	SNP	A	TCGA-CR-7391-01A-11D-2012-08		57382046	77624470	9	38333											
ATAD5	79915	broad.mit.edu	37	chr17	29162940	29162940	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccattagaggtattgattCtgacgatgtacaagataata	16	12	8	5	1	1	4	0	2	1	2	1	5	1	4	1	1	2	2	1	1	7	7			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr17:29162940C>G	ENST00000321990.4	+	2	2219	c.1841C>G	c.(1840-1842)tCt>tGt	p.S614C	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	614					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GGTATTGATTCTGACGATGTA	0.393													6	64					0	0	0	0	G	29162940	C	G	29162940	3	3	213	1	0	0	0	0	1	0	0	0	1080	913	32	2	1847	2	ATAD5	17	29162940	Missense_Mutation	SNP	C	TCGA-CR-7391-01A-11D-2012-08		29162940	52032270	10	38334											
RRBP1	6238	broad.mit.edu	37	chr20	17639486	17639486	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccctctacctttgtgcccTgattagcaaccgaatctgcc	8	12	6	15	1	2	1	0	1	2	0	2	2	2	1	5	0	6	1	5	0	5	4			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr20:17639486T>C	ENST00000377813.1	-	3	1970	c.1667A>G	c.(1666-1668)cAg>cGg	p.Q556R	RRBP1_ENST00000246043.4_Missense_Mutation_p.Q556R|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000377807.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	556	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CTTTGTGCCCTGATTAGCAAC	0.522													3	139					0	0	0	0	C	17639486	T	C	17639486	3	2	213	1	0	0	0	0	1	0	0	0	13763	1595	55	5		5	RRBP1	20	17639486	Missense_Mutation	SNP	T	TCGA-CR-7391-01A-11D-2012-08		17639486	45386034	11	38335											
PTPRT	11122	broad.mit.edu	37	chr20	40727119	40727119	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagttgtaatcgaacaccAgcctccagaagtctgccacg	12	7	9	13	2	1	1	0	0	1	1	3	2	2	1	4	0	4	3	4	0	3	2			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr20:40727119A>G	ENST00000373198.3	-	28	4089	c.3854T>C	c.(3853-3855)cTg>cCg	p.L1285P	PTPRT_ENST00000373201.1_Missense_Mutation_p.L1253P|PTPRT_ENST00000373190.1_Missense_Mutation_p.L1262P|PTPRT_ENST00000373184.1_Missense_Mutation_p.L1273P|PTPRT_ENST00000373193.3_Missense_Mutation_p.L1266P|PTPRT_ENST00000356100.2_Missense_Mutation_p.L1272P|PTPRT_ENST00000373187.1_Missense_Mutation_p.L1263P	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1263	Tyrosine-protein phosphatase 2.				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)				ATCGAACACCAGCCTCCAGAA	0.592													3	67					0	0	0	0	G	40727119	A	G	40727119	3	3	213	1	0	0	0	0	1	0	0	0	12894	188	7	5	557	5	PTPRT	20	40727119	Missense_Mutation	SNP	A	TCGA-CR-7391-01A-11D-2012-08	23087633	40727119	22298401	12	38336											
MORC4	79710	broad.mit.edu	37	chrX	106186359	106186359	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaggcatggaataatctaGagaaggtgttgtcatctcat	13	11	11	6	0	3	1	2	0	2	1	4	3	3	2	0	3	1	3	0	3	4	3			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chrX:106186359G>C	ENST00000355610.4	-	15	2036	c.1762C>G	c.(1762-1764)Cta>Gta	p.L588V	MORC4_ENST00000255495.7_Missense_Mutation_p.L588V|MORC4_ENST00000535534.1_Missense_Mutation_p.L336V	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	588							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GAATAATCTAGAGAAGGTGTT	0.453													8	154					0	0	0	0	C	106186359	G	C	106186359	3	2	213	1	0	0	0	0	1	0	0	0	9774	933	33	2	1063	2	MORC4	23	106186359	Missense_Mutation	SNP	G	TCGA-CR-7391-01A-11D-2012-08		106186359	49084201	13	38337											
LRIG2	9860	broad.mit.edu	37	chr1	113616160	113616160	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggagcaggtctctgcccCgcgccctgctcctgccgcat	3	7	12	19	4	1	0	0	0	1	0	3	1	2	1	6	2	4	3	6	2	0	0			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr1:113616160C>G	ENST00000361127.4	+	1	330	c.132C>G	c.(130-132)ccC>ccG	p.P44P		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	44	LRRNT.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GTCTCTGCCCCGCGCCCTGCT	0.657											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	206					0	0	0	0	G	113616160	C	G	113616160	2	3	214	1	0	0	0	0	0	0	0	1	9009	639	23	3		3	LRIG2	1	113616160	Silent	SNP	C	TCGA-CR-7392-01A-11D-2012-08		113616160	135634461	1	38338											
IL6R	3570	broad.mit.edu	37	chr1	154407116	154407116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacatagtgtccatgtgcGtcgccagtagtgtcgggagc	7	11	13	10	3	1	0	0	0	1	0	4	1	2	1	2	1	3	1	2	1	3	3			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr1:154407116G>A	ENST00000368485.3	+	4	1017	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	IL6R_ENST00000344086.4_Missense_Mutation_p.V194I	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	194					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	p.V194I(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTCCATGTGCGTCGCCAGTAG	0.532													6	159					0	0	0	0	A	154407116	G	A	154407116	3	1	214	1	0	0	0	0	1	0	0	0	7755	1145	40	1	594	1	IL6R	1	154407116	Missense_Mutation	SNP	G	TCGA-CR-7392-01A-11D-2012-08	40790956	154407116	94843505	2	38339											
DCAF6	55827	broad.mit.edu	37	chr1	167906205	167906205	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtgaggaaaaggtcccTcgggctggaggacccgtccc	8	5	16	12	3	0	1	0	1	0	0	3	5	2	5	3	6	0	1	3	6	2	0			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr1:167906205T>C	ENST00000367840.3	+	1	150	c.56T>C	c.(55-57)cTc>cCc	p.L19P	DCAF6_ENST00000470919.1_Intron|DCAF6_ENST00000312263.6_Missense_Mutation_p.L19P|DCAF6_ENST00000367843.3_Missense_Mutation_p.L19P|MPC2_ENST00000271373.4_5'UTR|DCAF6_ENST00000432587.2_Missense_Mutation_p.L19P	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	19					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AAAAGGTCCCTCGGGCTGGAG	0.721													3	23					0	0	0	0	C	167906205	T	C	167906205	3	2	214	1	0	0	0	0	1	0	0	0	4307	1551	54	5	58	5	DCAF6	1	167906205	Missense_Mutation	SNP	T	TCGA-CR-7392-01A-11D-2012-08	13499089	167906205	81344416	3	38340											
DOK1	1796	broad.mit.edu	37	chr2	74783609	74783609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagagctgactcccatgaaGgggaggtggcagaggggaag	11	5	18	7	0	1	4	1	2	0	2	2	6	2	6	1	6	1	2	1	6	2	0			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr2:74783609G>C	ENST00000233668.5	+	5	1483	c.814G>C	c.(814-816)Ggg>Cgg	p.G272R	DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.G133R|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	272					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTCCCATGAAGGGGAGGTGGC	0.612													4	91					0	0	0	0	C	74783609	G	C	74783609	3	2	214	1	0	0	0	0	1	0	0	0	4732	1000	35	4	832	4	DOK1	2	74783609	Missense_Mutation	SNP	G	TCGA-CR-7392-01A-11D-2012-08		74783609	168415764	4	38341											
CCDC80	151887	broad.mit.edu	37	chr3	112324348	112324348	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatccttggtggtaactatgGtaaccatagcctgcatactc	10	13	8	10	0	0	0	0	0	0	0	2	0	1	0	3	3	5	3	3	3	6	7			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr3:112324348G>A	ENST00000206423.3	-	8	3722	c.2769C>T	c.(2767-2769)taC>taT	p.Y923Y	CCDC80_ENST00000439685.2_Silent_p.Y923Y	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	923										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGTAACTATGGTAACCATAGC	0.463													4	83					0	0	0	0	A	112324348	G	A	112324348	2	1	214	1	0	0	0	0	0	0	0	1	2881	1256	44	4		4	CCDC80	3	112324348	Silent	SNP	G	TCGA-CR-7392-01A-11D-2012-08		112324348	85698082	5	38342											
SOX2	6657	broad.mit.edu	37	chr3	181430843	181430843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctactcgcagcagggcaCccctggcatggctcttggct	5	9	12	15	1	1	0	0	0	1	0	3	0	2	0	3	4	2	6	3	4	1	2			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr3:181430843C>T	ENST00000325404.1	+	1	1122	c.695C>T	c.(694-696)aCc>aTc	p.T232I	SOX2_ENST00000431565.2_Missense_Mutation_p.T232I	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	232					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			CAGCAGGGCACCCCTGGCATG	0.642			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						7	71					0	0	0	0	T	181430843	C	T	181430843	3	4	214	1	0	0	0	0	1	0	0	0	15037	507	18	4	697	4	SOX2	3	181430843	Missense_Mutation	SNP	C	TCGA-CR-7392-01A-11D-2012-08	69106495	181430843	16591587	6	38343											
GAK	2580	broad.mit.edu	37	chr4	861163	861163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtctctgtcctccatcaggGcagactcgctctccttggaa	6	11	9	15	2	3	1	1	0	2	1	8	2	5	2	3	2	0	2	3	2	1	1			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr4:861163G>C	ENST00000314167.4	-	21	2563	c.2453C>G	c.(2452-2454)gCc>gGc	p.A818G	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.A739G	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	818					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTCCATCAGGGCAGACTCGCT	0.597													5	128					0	0	0	0	C	861163	G	C	861163	3	2	214	1	0	0	0	0	1	0	0	0	6244	1203	42	4	1514	4	GAK	4	861163	Missense_Mutation	SNP	G	TCGA-CR-7392-01A-11D-2012-08		861163	190293113	7	38344											
CAMK2D	817	broad.mit.edu	37	chr4	114680566	114680566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttctcaccactgagaatgCccccctggaaaccaataatt	12	10	5	14	0	2	1	1	1	2	1	3	3	2	2	5	1	2	0	5	1	4	3			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr4:114680566C>T	ENST00000454265.2	-	2	928	c.70G>A	c.(70-72)Gca>Aca	p.A24T	CAMK2D_ENST00000394526.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000342666.5_Missense_Mutation_p.A24T|CAMK2D_ENST00000505990.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000418639.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000394522.3_Missense_Mutation_p.A24T|CAMK2D_ENST00000394524.3_Missense_Mutation_p.A24T|CAMK2D_ENST00000508738.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000515496.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000511664.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000429180.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000296402.5_Missense_Mutation_p.A24T|CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000379773.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000514328.1_Missense_Mutation_p.A24T			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	24	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ACTGAGAATGCCCCCCTGGAA	0.323													4	87					0	0	0	0	T	114680566	C	T	114680566	3	4	214	1	0	0	0	0	1	0	0	0	2626	739	26	4	1592	4	CAMK2D	4	114680566	Missense_Mutation	SNP	C	TCGA-CR-7392-01A-11D-2012-08	113819403	114680566	76473710	8	38345											
KIAA1109	84162	broad.mit.edu	37	chr4	123147970	123147970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgtcagcatggaattgatCgtcggttctgtgaatccaag	10	13	11	7	2	2	2	1	2	1	0	5	3	3	3	1	2	1	2	1	2	4	3			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr4:123147970C>T	ENST00000264501.4	+	24	3275	c.2902C>T	c.(2902-2904)Cgt>Tgt	p.R968C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R968C|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R968C|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	968					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGAATTGATCGTCGGTTCTG	0.338													5	74					0	0	0	0	T	123147970	C	T	123147970	3	4	214	1	0	0	0	0	1	0	0	0	8259	884	31	1	2988	1	KIAA1109	4	123147970	Missense_Mutation	SNP	C	TCGA-CR-7392-01A-11D-2012-08	8467404	123147970	68006306	9	38346											
C6	729	broad.mit.edu	37	chr5	41159281	41159281	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggattattgcattctcGggttctcgatctcttataag	8	15	10	8	2	3	0	0	0	3	0	6	2	3	1	0	3	1	3	0	3	3	6			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr5:41159281G>A	ENST00000263413.3	-	12	2023	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	C6_ENST00000337836.5_Nonsense_Mutation_p.R587*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	587	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGCATTCTCGGGTTCTCGAT	0.493													5	105					0	0	0	0	A	41159281	G	A	41159281	4	1	214	1	0	0	0	0	0	1	0	0	2336	1124	39	1	1073	1	C6	5	41159281	Nonsense_Mutation	SNP	G	TCGA-CR-7392-01A-11D-2012-08		41159281	139755979	10	38347											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056369	26056369	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccagaagcaccggtgcctttCgtttgcaccagagtgccctt	7	10	10	14	2	0	2	0	0	0	2	1	2	0	2	5	1	4	3	5	1	1	3			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr6:26056369C>G	ENST00000343677.2	-	1	330	c.288G>C	c.(286-288)acG>acC	p.T96T		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	96	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGGTGCCTTTCGTTTGCACCA	0.532													6	178					0	0	0	0	G	26056369	C	G	26056369	2	3	214	1	0	0	0	0	0	0	0	1	7174	871	31	3		3	HIST1H1C	6	26056369	Silent	SNP	C	TCGA-CR-7392-01A-11D-2012-08		26056369	145058698	11	38348											
GPR6	2830	broad.mit.edu	37	chr6	110300574	110300574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgtcggggacagtgatcGctggagaaaacgcgctggtg	8	7	18	8	5	0	2	0	1	0	1	2	4	0	3	0	4	1	2	0	4	2	0			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr6:110300574G>A	ENST00000414000.2	+	3	543	c.304G>A	c.(304-306)Gct>Act	p.A102T	GPR6_ENST00000275169.3_Missense_Mutation_p.A87T			P46095	GPR6_HUMAN	G protein-coupled receptor 6	87						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GACAGTGATCGCTGGAGAAAA	0.672													7	157					0	0	0	0	A	110300574	G	A	110300574	3	1	214	1	0	0	0	0	1	0	0	0	6750	1087	38	1	261	1	GPR6	6	110300574	Missense_Mutation	SNP	G	TCGA-CR-7392-01A-11D-2012-08	84244205	110300574	60814493	12	38349											
LPA	4018	broad.mit.edu	37	chr6	160952810	160952810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaacaaaccttgaaacaCgagcatagacaccaggctta	18	6	7	10	1	0	2	0	1	0	1	0	3	0	2	2	1	4	3	2	1	6	4			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr6:160952810C>A	ENST00000447678.1	-	40	6194	c.6074G>T	c.(6073-6075)cGt>cTt	p.R2025L	LPA_ENST00000316300.5_Missense_Mutation_p.R2025L|LPA_ENST00000484276.1_Intron	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4533	Kringle 18.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCTTGAAACACGAGCATAGAC	0.458													6	82					4.096e-09	1.46773e-08	1	0	A	160952810	C	A	160952810	3	1	214	1	0	0	0	0	1	0	0	0	8967	536	19	3	52	3	LPA	6	160952810	Missense_Mutation	SNP	C	TCGA-CR-7392-01A-11D-2012-08	50652236	160952810	10162257	13	38350											
SUN1	23353	broad.mit.edu	37	chr7	891656	891656	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttgttactttgatttcttGgctgaatgtgtttcttctta	5	23	8	5	0	3	2	0	2	3	0	3	2	3	2	0	1	1	4	0	1	3	8			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr7:891656G>A	ENST00000456758.2	+	13	1394	c.1394G>A	c.(1393-1395)tGg>tAg	p.W465*	SUN1_ENST00000413514.2_Nonsense_Mutation_p.W85*|SUN1_ENST00000405266.1_Nonsense_Mutation_p.W313*|SUN1_ENST00000401592.1_Nonsense_Mutation_p.W276*|SUN1_ENST00000452783.2_Nonsense_Mutation_p.W174*|SUN1_ENST00000389574.3_Nonsense_Mutation_p.W193*|SUN1_ENST00000425407.2_Nonsense_Mutation_p.W193*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	303					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGATTTCTTGGCTGAATGTG	0.433													4	111					0	0	0	0	A	891656	G	A	891656	4	1	214	1	0	0	0	0	0	1	0	0	15481	1357	47	4	1036	4	SUN1	7	891656	Nonsense_Mutation	SNP	G	TCGA-CR-7392-01A-11D-2012-08		891656	158247007	14	38351											
MAFK	7975	broad.mit.edu	37	chr7	1579888	1579888	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtacgaggcgctgcagacCttcgcgcgcaccgtggcccg	7	5	14	15	7	0	1	0	0	0	1	1	2	0	1	3	2	2	4	3	2	2	2			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr7:1579888C>T	ENST00000343242.4	+	3	577	c.348C>T	c.(346-348)acC>acT	p.T116T		NM_002360.3	NP_002351.1	O60675	MAFK_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K	116					blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)		CGCTGCAGACCTTCGCGCGCA	0.682													5	29					0	0	0	0	T	1579888	C	T	1579888	2	4	214	1	0	0	0	0	0	0	0	1	9226	668	24	4		4	MAFK	7	1579888	Silent	SNP	C	TCGA-CR-7392-01A-11D-2012-08	688232	1579888	157558775	15	38352											
SGCE	8910	broad.mit.edu	37	chr7	94230126	94230126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtaaaatcccctctccaCgaatcacttcctgataggtg	11	10	7	13	1	2	1	1	1	1	0	5	2	4	1	4	2	0	1	4	2	4	3			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr7:94230126C>T	ENST00000415788.2	-	8	1064	c.977G>A	c.(976-978)cGt>cAt	p.R326H	SGCE_ENST00000265735.7_Missense_Mutation_p.R290H|SGCE_ENST00000428696.2_Missense_Mutation_p.R290H|SGCE_ENST00000437425.2_Missense_Mutation_p.R249H|SGCE_ENST00000447873.1_Missense_Mutation_p.R290H|SGCE_ENST00000445866.2_Missense_Mutation_p.R290H			O43556	SGCE_HUMAN	sarcoglycan, epsilon	290	Cys-rich.				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCCCTCTCCACGAATCACTTC	0.378													9	39					0	0	0	0	T	94230126	C	T	94230126	3	4	214	1	0	0	0	0	1	0	0	0	14289	536	19	1	616	1	SGCE	7	94230126	Missense_Mutation	SNP	C	TCGA-CR-7392-01A-11D-2012-08	92650238	94230126	64908537	16	38353											
SDCBP	6386	broad.mit.edu	37	chr8	59492228	59492228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaggatagcactggacatGttggttttatctttaaaaat	14	15	8	4	0	1	0	0	0	1	0	1	2	1	2	0	3	1	3	0	3	6	7			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr8:59492228G>A	ENST00000523483.1	+	8	2199	c.685G>A	c.(685-687)Gtt>Att	p.V229I	SDCBP_ENST00000520168.1_Missense_Mutation_p.V150I|SDCBP_ENST00000260130.4_Missense_Mutation_p.V209I|SDCBP_ENST00000447182.2_Missense_Mutation_p.V208I|SDCBP_ENST00000447267.2_Missense_Mutation_p.V155I|SDCBP_ENST00000424270.2_Missense_Mutation_p.V203I|SDCBP_ENST00000422546.2_Missense_Mutation_p.V208I|SDCBP_ENST00000413219.2_Missense_Mutation_p.V209I			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	209	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CACTGGACATGTTGGTTTTAT	0.338													5	72					0	0	0	0	A	59492228	G	A	59492228	3	1	214	1	0	0	0	0	1	0	0	0	14042	1377	48	4	647	4	SDCBP	8	59492228	Missense_Mutation	SNP	G	TCGA-CR-7392-01A-11D-2012-08		59492228	86871794	17	38354											
CA8	767	broad.mit.edu	37	chr8	61135309	61135309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatacacccagtaatcccGcagcagagggtctgcacagc	11	7	9	14	1	2	1	1	0	1	1	3	1	3	1	2	1	4	4	2	1	2	3	rs145210688	by1000genomes	TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr8:61135309G>A	ENST00000317995.4	-	7	901	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	213					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CAGTAATCCCGCAGCAGAGGG	0.438													15	77					0	0	0	0	A	61135309	G	A	61135309	3	1	214	1	0	0	0	0	1	0	0	0	2548	1086	38	1	243	1	CA8	8	61135309	Missense_Mutation	SNP	G	TCGA-CR-7392-01A-11D-2012-08	1643081	61135309	85228713	18	38355											
CHAT	1103	broad.mit.edu	37	chr10	50872950	50872952	+	In_Frame_Del	DEL	CTT	CTT	-																															ctttcacagctgcaaagagaCttcttctagcaagtttgcaa																										TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr10:50872950_50872952delCTT	ENST00000395562.2	+	16	2328_2330	c.1859_1861delCTT	c.(1858-1863)act>a	p.TS620del	CHAT_ENST00000337653.2_In_Frame_Del_p.TS702del|CHAT_ENST00000395559.2_In_Frame_Del_p.TS584del|CHAT_ENST00000339797.1_In_Frame_Del_p.TS584del|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000351556.3_In_Frame_Del_p.TS584del	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	702					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TGCAAAGAGACTTCTTCTAGCAA	0.502													8	306	---	---	---	---					-	50872952	CTT	-	50872950	7	5	214	1	0	1	0	1	0	0	0	0	3342	565	20	0	2207	0	CHAT	10	50872950	In_Frame_Del	DEL	CTT	TCGA-CR-7392-01A-11D-2012-08		50872950	84661797	19	38356											
ASCL3	56676	broad.mit.edu	37	chr11	8959494	8959494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgggaaagagaaggggCagggttcactgtaatttccc	11	8	14	8	1	1	1	1	0	0	1	3	3	2	2	1	4	0	4	1	4	3	3			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr11:8959494C>T	ENST00000325884.1	-	2	274	c.215G>A	c.(214-216)tGc>tAc	p.C72Y	ASCL3_ENST00000531618.1_Missense_Mutation_p.C72Y	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	71					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		AGAGAAGGGGCAGGGTTCACT	0.577													6	77					0	0	0	0	T	8959494	C	T	8959494	3	4	214	1	0	0	0	0	1	0	0	0	1039	710	25	4	334	4	ASCL3	11	8959494	Missense_Mutation	SNP	C	TCGA-CR-7392-01A-11D-2012-08		8959494	126047022	20	38357											
FJX1	24147	broad.mit.edu	37	chr11	35640755	35640755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccggagcagattcagggcGaggccctgtcttactatctg	8	9	12	12	2	3	1	1	0	2	1	3	3	3	2	2	3	2	1	2	3	2	3			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr11:35640755G>A	ENST00000317811.4	+	1	1021	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	191						extracellular space		p.E191K(2)		lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				GATTCAGGGCGAGGCCCTGTC	0.731													7	25					0	0	0	0	A	35640755	G	A	35640755	3	1	214	1	0	0	0	0	1	0	0	0	5946	1059	37	1	573	1	FJX1	11	35640755	Missense_Mutation	SNP	G	TCGA-CR-7392-01A-11D-2012-08	26681261	35640755	99365761	21	38358											
AMBRA1	55626	broad.mit.edu	37	chr11	46564921	46564921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggataattctgttccatCtatggggatctctggttcgt	6	16	12	7	1	3	0	0	0	3	0	6	2	4	2	1	4	0	2	1	4	2	5			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr11:46564921C>T	ENST00000458649.2	-	7	1064	c.646G>A	c.(646-648)Gat>Aat	p.D216N	AMBRA1_ENST00000533727.1_Missense_Mutation_p.D216N|AMBRA1_ENST00000528950.1_Missense_Mutation_p.D216N|AMBRA1_ENST00000534300.1_Missense_Mutation_p.D216N|AMBRA1_ENST00000426438.1_Missense_Mutation_p.D216N|AMBRA1_ENST00000314845.3_Missense_Mutation_p.D216N|AMBRA1_ENST00000298834.3_Missense_Mutation_p.D216N			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	216					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCTGTTCCATCTATGGGGATC	0.542													16	98					0	0	0	0	T	46564921	C	T	46564921	3	4	214	1	0	0	0	0	1	0	0	0	565	913	32	2	3032	2	AMBRA1	11	46564921	Missense_Mutation	SNP	C	TCGA-CR-7392-01A-11D-2012-08	10924166	46564921	88441595	22	38359											
OR4A16	81327	broad.mit.edu	37	chr11	55111250	55111250	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgtgccttgacacctacTttataggactcactgtggtt	7	16	9	9	0	1	1	1	1	0	0	1	2	1	2	2	2	2	2	2	2	3	7			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr11:55111250T>A	ENST00000314721.2	+	1	624	c.574T>A	c.(574-576)Ttt>Att	p.F192I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGACACCTACTTTATAGGACT	0.423													7	145					0	0	0	0	A	55111250	T	A	55111250	3	1	214	1	0	0	0	0	1	0	0	0	11112	1609	56	5	576	5	OR4A16	11	55111250	Missense_Mutation	SNP	T	TCGA-CR-7392-01A-11D-2012-08	8546329	55111250	79895266	23	38360											
TIGD3	220359	broad.mit.edu	37	chr11	65124576	65124576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcccctgcccaccaaagctGatgccctccgggccctgggc	6	5	11	19	1	0	1	0	1	0	0	1	1	1	1	7	2	4	1	7	2	1	0			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr11:65124576G>A	ENST00000309880.5	+	2	1504	c.1297G>A	c.(1297-1299)Gat>Aat	p.D433N		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	433					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CACCAAAGCTGATGCCCTCCG	0.562													12	109					0	0	0	0	A	65124576	G	A	65124576	3	1	214	1	0	0	0	0	1	0	0	0	15991	1290	45	2	1299	2	TIGD3	11	65124576	Missense_Mutation	SNP	G	TCGA-CR-7392-01A-11D-2012-08	10013326	65124576	69881940	24	38361											
PELI3	246330	broad.mit.edu	37	chr11	66238754	66238754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggacaagggccgccggcGaagccgcctggcactgagcc	7	3	17	14	4	0	1	0	1	0	0	0	3	0	2	5	5	2	1	5	5	2	0			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr11:66238754G>A	ENST00000349459.6	+	3	478	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	PELI3_ENST00000531856.1_Intron|PELI3_ENST00000524466.1_Missense_Mutation_p.R89Q|PELI3_ENST00000320740.7_Missense_Mutation_p.R89Q	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	89						cytosol	protein binding	p.R89Q(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GGCCGCCGGCGAAGCCGCCTG	0.597													6	184					0	0	0	0	A	66238754	G	A	66238754	3	1	214	1	0	0	0	0	1	0	0	0	11794	1058	37	1	276	1	PELI3	11	66238754	Missense_Mutation	SNP	G	TCGA-CR-7392-01A-11D-2012-08	1114178	66238754	68767762	25	38362											
ATN1	1822	broad.mit.edu	37	chr12	7044927	7044927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccacctccactctttcCtccttcccctcaaccgccag	6	9	2	24	1	2	0	1	0	1	0	6	0	6	0	10	0	1	0	10	0	1	2			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr12:7044927C>G	ENST00000356654.4	+	5	734	c.497C>G	c.(496-498)cCt>cGt	p.P166R	ATN1_ENST00000396684.2_Missense_Mutation_p.P166R	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	166					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCACTCTTTCCTCCTTCCCCT	0.592													4	149					0	0	0	0	G	7044927	C	G	7044927	3	3	214	1	0	0	0	0	1	0	0	0	1115	681	24	4	511	4	ATN1	12	7044927	Missense_Mutation	SNP	C	TCGA-CR-7392-01A-11D-2012-08		7044927	126806968	26	38363											
PRICKLE1	144165	broad.mit.edu	37	chr12	42854281	42854281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtactggcttctcttcaGgcaggattttctctggacac	7	14	10	10	0	3	0	1	0	2	0	5	3	3	2	0	4	1	3	0	4	1	5			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr12:42854281G>A	ENST00000455697.1	-	8	2111	c.1826C>T	c.(1825-1827)cCt>cTt	p.P609L	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.P609L|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.P609L|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.P609L|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.P609L	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	609					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTTCTCTTCAGGCAGGATTTT	0.463													5	111					0	0	0	0	A	42854281	G	A	42854281	3	1	214	1	0	0	0	0	1	0	0	0	12566	1000	35	4	673	4	PRICKLE1	12	42854281	Missense_Mutation	SNP	G	TCGA-CR-7392-01A-11D-2012-08	35809354	42854281	90997614	27	38364											
TRPM1	4308	broad.mit.edu	37	chr15	31362283	31362283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaattcaagaactccatagGaatctgttgggtagctctgg	11	11	12	7	0	3	1	1	0	2	1	4	3	4	3	1	4	2	3	1	4	6	4			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr15:31362283G>T	ENST00000542188.1	-	3	594	c.281C>A	c.(280-282)tCc>tAc	p.S94Y	TRPM1_ENST00000256552.6_Missense_Mutation_p.S77Y|TRPM1_ENST00000559179.1_Missense_Mutation_p.S55Y|TRPM1_ENST00000397795.2_Missense_Mutation_p.S55Y	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	55					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AACTCCATAGGAATCTGTTGG	0.483													12	557					2.27111e-07	7.97206e-07	1	0	T	31362283	G	T	31362283	3	4	214	1	0	0	0	0	1	0	0	0	16680	1174	41	2	4747	2	TRPM1	15	31362283	Missense_Mutation	SNP	G	TCGA-CR-7392-01A-11D-2012-08		31362283	71169109	28	38365											
KBTBD13	390594	broad.mit.edu	37	chr15	65369216	65369216	+	Frame_Shift_Del	DEL	C	C	-																															ggccagctcttccaagccgaCcgcgccctgctggtggagca																										TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr15:65369216delC	ENST00000432196.2	+	1	63	c.63delC	c.(61-63)gafs	p.D21fs		NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	21	BTB.					cytoplasm				lung(1)|prostate(1)|skin(1)	3						TCCAAGCCGACCGCGCCCTGC	0.721													2	4	---	---	---	---					-	65369216	C	-	65369216	7	5	214	1	0	1	0	1	0	0	0	0	8045	506	18	0	65	0	KBTBD13	15	65369216	Frame_Shift_Del	DEL	C	TCGA-CR-7392-01A-11D-2012-08	34006933	65369216	37162176	29	38366											
ZNF780B	163131	broad.mit.edu	37	chr19	40540672	40540672	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcttcctacactccttacaTacaaagggtttcgcactgga	10	12	7	12	1	1	0	0	0	1	0	4	1	3	1	2	2	3	2	2	2	4	5			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr19:40540672T>A	ENST00000434248.1	-	5	2159	c.2094A>T	c.(2092-2094)gtA>gtT	p.V698V	ZNF780B_ENST00000221355.6_Silent_p.V550V	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACTCCTTACATACAAAGGGTT	0.388													10	137					0	0	0	0	A	40540672	T	A	40540672	2	1	214	1	0	0	0	0	0	0	0	1	18246	1393	49	5		5	ZNF780B	19	40540672	Silent	SNP	T	TCGA-CR-7392-01A-11D-2012-08		40540672	18588311	30	38367											
TIAM1	7074	broad.mit.edu	37	chr21	32502548	32502548	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tacctgcactcgccaaagctCgaacctgcagcgcttccgtg	8	8	9	16	4	0	0	0	0	0	0	3	1	1	0	4	0	6	4	4	0	3	2			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr21:32502548C>G	ENST00000286827.3	-	26	4499	c.4028G>C	c.(4027-4029)cGa>cCa	p.R1343P	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1283P	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1343	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.R1343L(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCCAAAGCTCGAACCTGCAG	0.483													3	214					0	0	0	0	G	32502548	C	G	32502548	3	3	214	1	0	0	0	0	1	0	0	0	15984	884	31	3	763	3	TIAM1	21	32502548	Missense_Mutation	SNP	C	TCGA-CR-7392-01A-11D-2012-08		32502548	15627347	31	38368											
DEPDC5	9681	broad.mit.edu	37	chr22	32289633	32289633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaaccgcacagaccggCtggagtggtgcagctgttat	10	8	13	10	2	0	2	0	1	0	1	0	3	0	3	2	3	4	5	2	3	3	1			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr22:32289633C>G	ENST00000400246.1	+	39	4241	c.4099C>G	c.(4099-4101)Ctg>Gtg	p.L1367V	DEPDC5_ENST00000400248.1_Missense_Mutation_p.L1336V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1336V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1267V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1367V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1345V|DEPDC5_ENST00000382112.3_Missense_Mutation_p.L1358V|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000539165.1_Missense_Mutation_p.L184V			O75140	DEPD5_HUMAN	DEP domain containing 5	1336					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CACAGACCGGCTGGAGTGGTG	0.557													5	59					0	0	0	0	G	32289633	C	G	32289633	3	3	214	1	0	0	0	0	1	0	0	0	4479	796	28	4	4240	4	DEPDC5	22	32289633	Missense_Mutation	SNP	C	TCGA-CR-7392-01A-11D-2012-08		32289633	19014933	32	38369											
AWAT1	158833	broad.mit.edu	37	chrX	69455618	69455618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttacatccttgtggccGctaccagtgctttactttgc	5	16	8	12	1	0	0	0	0	0	0	1	0	1	0	3	1	5	3	3	1	3	7			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chrX:69455618G>A	ENST00000374521.3	+	2	170	c.129G>A	c.(127-129)ccG>ccA	p.P43P	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	43					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CCTTGTGGCCGCTACCAGTGC	0.488													6	243					0	0	0	0	A	69455618	G	A	69455618	2	1	214	1	0	0	0	0	0	0	0	1	1238	1074	38	1		1	AWAT1	23	69455618	Silent	SNP	G	TCGA-CR-7392-01A-11D-2012-08		69455618	85814942	33	38370											
F9	2158	broad.mit.edu	37	chrX	138643694	138643694	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttaataggtgaacataatAttgaggagacagaacataca	18	11	8	4	0	0	4	0	2	0	2	0	5	0	4	0	2	3	0	0	2	7	7			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chrX:138643694A>T	ENST00000218099.2	+	8	857	c.850A>T	c.(850-852)Att>Ttt	p.I284F	F9_ENST00000394090.2_Missense_Mutation_p.I246F	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	284	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGAACATAATATTGAGGAGAC	0.333													13	90					0	0	0	0	T	138643694	A	T	138643694	3	4	214	1	0	0	0	0	1	0	0	0	5392	449	16	5	880	5	F9	23	138643694	Missense_Mutation	SNP	A	TCGA-CR-7392-01A-11D-2012-08	69188076	138643694	16626866	34	38371											
HAUS7	55559	broad.mit.edu	37	chrX	152730472	152730472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttcacctctgttgggaccCctttcagtgagctgaacctg	6	13	9	13	0	4	2	2	2	2	0	4	3	4	3	4	1	2	2	4	1	1	3	rs141087618		TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chrX:152730472C>A	ENST00000370219.3	-	3	853	c.296G>T	c.(295-297)gGg>gTg	p.G99V	HAUS7_ENST00000370212.3_Missense_Mutation_p.G99V|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370210.1_Missense_Mutation_p.G89V|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370211.4_Missense_Mutation_p.G89V|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000421080.2_Intron|TREX2_ENST00000330912.2_5'UTR	NM_017518.6	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	99					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TGTTGGGACCCCTTTCAGTGA	0.577													17	359					1.56452e-12	5.72549e-12	1	0	A	152730472	C	A	152730472	3	1	214	1	0	0	0	0	1	0	0	0	7021	623	22	4	842	4	HAUS7	23	152730472	Missense_Mutation	SNP	C	TCGA-CR-7392-01A-11D-2012-08	14086778	152730472	2540088	35	38372											
RUNX2	860	broad.mit.edu	37	chr6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaacagcagcagcagcagCaggaggcggcggcggcggct	10	1	18	12	4	0	0	0	0	0	0	0	1	0	1	0	6	7	7	0	6	1	0			TCGA-CR-7393-01A-11D-2012-08	TCGA-CR-7393-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d	6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716													3	26					0	0	0	0	G	45390482	C	G	45390482	3	3	215	1	0	0	0	0	1	0	0	0	13833	711	25	4	233	4	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-CR-7393-01A-11D-2012-08		45390482	125724585	1	38373											
AKAP11	11215	broad.mit.edu	37	chr13	42874583	42874583	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttttggcagtgcatttaaAgacttacagaaaggagtctc	13	12	10	6	0	1	2	0	0	1	2	2	3	1	3	0	2	2	3	0	2	4	5			TCGA-CR-7393-01A-11D-2012-08	TCGA-CR-7393-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d	6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d	g.chr13:42874583A>C	ENST00000025301.2	+	8	1876	c.1701A>C	c.(1699-1701)aaA>aaC	p.K567N		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	567					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTGCATTTAAAGACTTACAGA	0.323													3	59					0	0	0	0	C	42874583	A	C	42874583	3	2	215	1	0	0	0	0	1	0	0	0	447	69	3	5	1723	5	AKAP11	13	42874583	Missense_Mutation	SNP	A	TCGA-CR-7393-01A-11D-2012-08		42874583	72295295	2	38374											
TP53	7157	broad.mit.edu	37	chr17	7579566	7579566	+	Frame_Shift_Del	DEL	C	C	-																															cggggacagcatcaaatcatCcattgcttgggacggcaagg																										TCGA-CR-7393-01A-11D-2012-08	TCGA-CR-7393-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d	6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d	g.chr17:7579566delC	ENST00000420246.2	-	4	253	c.121delG	c.(121-123)atfs	p.D42fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.D42fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.D42fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.D42fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.D42fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.D42fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	42	Interaction with HRMT1L2.|Transcription activation (acidic).		D -> Y (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.D41fs*3(1)|p.S37fs*79(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCAAATCATCCATTGCTTGG	0.602		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	285	---	---	---	---					-	7579566	C	-	7579566	7	5	215	1	0	1	0	1	0	0	0	0	16476	855	30	0	1181	0	TP53	17	7579566	Frame_Shift_Del	DEL	C	TCGA-CR-7393-01A-11D-2012-08		7579566	73615644	3	38375											
CUEDC1	404093	broad.mit.edu	37	chr17	55957076	55957076	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttcatccgagctatcAggttccaaagtcctttccaa	9	12	7	13	1	3	0	2	0	1	0	7	1	7	0	4	2	1	3	4	2	3	4			TCGA-CR-7393-01A-11D-2012-08	TCGA-CR-7393-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d	6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d	g.chr17:55957076A>G	ENST00000577830.1	-	3	773	c.360T>C	c.(358-360)ccT>ccC	p.P120P	CUEDC1_ENST00000407144.2_Silent_p.P120P|CUEDC1_ENST00000360238.2_Silent_p.P120P|CUEDC1_ENST00000577840.1_5'UTR	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	120	Pro-rich.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CCGAGCTATCAGGTTCCAAAG	0.502													3	99					0	0	0	0	G	55957076	A	G	55957076	2	3	215	1	0	0	0	0	0	0	0	1	4084	175	7	5		5	CUEDC1	17	55957076	Silent	SNP	A	TCGA-CR-7393-01A-11D-2012-08	48377510	55957076	25238134	4	38376											
CEACAM20	125931	broad.mit.edu	37	chr19	45017504	45017504	+	RNA	DEL	T	T	-																															attgtggtttttggttttgcTttttttttttttttttttca																								rs71171252		TCGA-CR-7393-01A-11D-2012-08	TCGA-CR-7393-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d	6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d	g.chr19:45017504delT	ENST00000454753.1	-	0	1588							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ttggttttgcttttttttttt	0.458													2	4	---	---	---	---					-	45017504	T	-	45017504	6	5	215	0	1	1	0	1	0	0	0	0	3220	1624	56	0		0	CEACAM20	19	45017504	RNA	DEL	T	TCGA-CR-7393-01A-11D-2012-08		45017504	14111479	5	38377											
RERE	473	broad.mit.edu	37	chr1	8425906	8425906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggtctggagggtgtgttGacgggtgtggacgcggtgcg	3	9	24	5	4	1	1	0	1	1	0	1	3	1	3	0	7	1	1	0	7	0	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:8425906G>A	ENST00000337907.3	-	14	2047	c.1413C>T	c.(1411-1413)gtC>gtT	p.V471V	RERE_ENST00000400908.2_Silent_p.V471V|RERE_ENST00000377464.1_Silent_p.V203V|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Silent_p.V471V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	471					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGGTGTGTTGACGGGTGTGG	0.632													4	63					0	0	0	0	A	8425906	G	A	8425906	2	1	216	1	0	0	0	0	0	0	0	1	13313	1277	45	2		2	RERE	1	8425906	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08		8425906	240824715	1	38378											
MRTO4	51154	broad.mit.edu	37	chr1	19583616	19583616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtcggagcccatctgatGaatacaaagacaacctgcac	13	7	10	11	1	1	3	0	2	1	1	2	4	1	4	2	2	4	1	2	2	4	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:19583616G>A	ENST00000330263.4	+	4	547	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	84					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCATCTGATGAATACAAAGA	0.537													18	234					0	0	0	0	A	19583616	G	A	19583616	3	1	216	1	0	0	0	0	1	0	0	0	9922	1291	45	2	264	2	MRTO4	1	19583616	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	11157710	19583616	229667005	2	38379											
PHC2	1912	broad.mit.edu	37	chr1	33832909	33832909	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctgtgctggggtaggcaGaggctggctaccgcccggcg	4	7	18	12	3	1	1	0	0	1	1	1	1	1	1	2	6	2	6	2	6	2	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:33832909G>A	ENST00000257118.5	-	6	837	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	PHC2_ENST00000419414.2_Silent_p.L262L|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.L233L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	262					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGGTAGGCAGAGGCTGGCTA	0.632											OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	129					0	0	0	0	A	33832909	G	A	33832909	2	1	216	1	0	0	0	0	0	0	0	1	11889	933	33	2		2	PHC2	1	33832909	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	14249293	33832909	215417712	3	38380											
DNALI1	7802	broad.mit.edu	37	chr1	38027808	38027808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggagaagaagcacaatgagGagattcagttcctgaagcga	16	6	13	6	1	1	5	1	2	0	3	2	8	2	5	1	2	2	2	1	2	4	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:38027808G>A	ENST00000296218.7	+	5	779	c.769G>A	c.(769-771)Gag>Aag	p.E257K	DNALI1_ENST00000541606.1_Missense_Mutation_p.E109K|DNALI1_ENST00000497858.1_3'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	235					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCACAATGAGGAGATTCAGTT	0.587													3	24					0	0	0	0	A	38027808	G	A	38027808	3	1	216	1	0	0	0	0	1	0	0	0	4695	1175	41	2	787	2	DNALI1	1	38027808	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	4194899	38027808	211222813	4	38381											
KDM4A	9682	broad.mit.edu	37	chr1	44169928	44169928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcagacatgcgcttcaatGagattttcacagagaaagag	14	9	9	9	1	3	4	3	1	0	4	3	6	3	4	1	0	1	1	1	0	2	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:44169928G>A	ENST00000372396.3	+	22	3216	c.3082G>A	c.(3082-3084)Gag>Aag	p.E1028K	KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000434346.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	1028					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GCGCTTCAATGAGATTTTCAC	0.438													6	153					0	0	0	0	A	44169928	G	A	44169928	3	1	216	1	0	0	0	0	1	0	0	0	8181	1291	45	2	3164	2	KDM4A	1	44169928	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	6142120	44169928	205080693	5	38382											
POMGNT1	55624	broad.mit.edu	37	chr1	46660524	46660524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatgccggcacctccttttCgtcccacgaaggcccatgtg	6	10	10	15	3	0	1	0	1	0	0	3	2	2	1	5	2	1	1	5	2	1	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:46660524C>T	ENST00000371992.1	-	7	1294	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	POMGNT1_ENST00000535522.1_Missense_Mutation_p.R193Q|POMGNT1_ENST00000371984.3_Missense_Mutation_p.R215Q|POMGNT1_ENST00000371986.3_Missense_Mutation_p.R215Q|POMGNT1_ENST00000396420.3_Intron	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	215					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACCTCCTTTTCGTCCCACGAA	0.617													37	223					0	0	0	0	T	46660524	C	T	46660524	3	4	216	1	0	0	0	0	1	0	0	0	12315	884	31	1	1402	1	POMGNT1	1	46660524	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	2490596	46660524	202590097	6	38383											
INADL	10207	broad.mit.edu	37	chr1	62235043	62235043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcagaagtcaaaatctcgGaaaagttgatatcttcgtga	14	11	8	8	2	4	3	2	2	2	1	6	4	4	4	1	1	0	1	1	1	6	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:62235043G>A	ENST00000371158.2	+	5	587	c.473G>A	c.(472-474)gGa>gAa	p.G158E	INADL_ENST00000316485.6_Missense_Mutation_p.G158E	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	158	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAAAATCTCGGAAAAGTTGAT	0.433													8	70					0	0	0	0	A	62235043	G	A	62235043	3	1	216	1	0	0	0	0	1	0	0	0	7784	1174	41	2	487	2	INADL	1	62235043	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	15574519	62235043	187015578	7	38384											
DOCK7	85440	broad.mit.edu	37	chr1	63003606	63003606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgatggagatgcaggtgGagtaagtaagctgcagggta	12	8	18	3	0	0	2	0	1	0	1	0	4	0	3	0	5	3	6	0	5	3	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:63003606G>T	ENST00000251157.5	-	28	3460	c.3427C>A	c.(3427-3429)Cca>Aca	p.P1143T	DOCK7_ENST00000340370.5_Missense_Mutation_p.P1112T	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1143					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GATGCAGGTGGAGTAAGTAAG	0.393													5	47					0.000602214	0.000641866	1	0	T	63003606	G	T	63003606	3	4	216	1	0	0	0	0	1	0	0	0	4728	1174	41	2	3087	2	DOCK7	1	63003606	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	768563	63003606	186247015	8	38385											
ROR1	4919	broad.mit.edu	37	chr1	64643982	64643982	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggtcctgggagggactctCaagtcacacaagctctacta	10	9	10	12	1	3	0	2	0	2	0	6	2	4	2	1	3	2	1	1	3	4	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:64643982C>G	ENST00000371079.1	+	9	2633	c.2258C>G	c.(2257-2259)tCa>tGa	p.S753*	ROR1_ENST00000545203.1_Nonsense_Mutation_p.S204*	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	753	Ser/Thr-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GAGGGACTCTCAAGTCACACA	0.498													5	67					0	0	0	0	G	64643982	C	G	64643982	4	3	216	1	0	0	0	0	0	1	0	0	13611	838	29	2	2300	2	ROR1	1	64643982	Nonsense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	1640376	64643982	184606639	9	38386											
RAVER2	55225	broad.mit.edu	37	chr1	65278428	65278428	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgttaaataggctgcctCtaagaatcaaacttcactct	12	15	5	9	0	4	1	2	0	2	1	4	1	4	1	1	1	2	2	1	1	6	6			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:65278428C>G	ENST00000294428.3	+	10	1766	c.1688C>G	c.(1687-1689)tCt>tGt	p.S563C	RAVER2_ENST00000430964.2_Intron|RAVER2_ENST00000371072.4_Missense_Mutation_p.S550C			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	563						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TAGGCTGCCTCTAAGAATCAA	0.348													4	41					0	0	0	0	G	65278428	C	G	65278428	3	3	216	1	0	0	0	0	1	0	0	0	13177	913	32	2	1687	2	RAVER2	1	65278428	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	634446	65278428	183972193	10	38387											
COL11A1	1301	broad.mit.edu	37	chr1	103471837	103471837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctttttccaggttttcccGttggaccagggggaccctgg	4	12	12	13	1	0	0	0	0	0	0	2	2	2	2	5	5	0	2	5	5	0	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:103471837G>A	ENST00000358392.2	-	16	2071	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	COL11A1_ENST00000512756.1_Missense_Mutation_p.T457M|COL11A1_ENST00000370096.3_Missense_Mutation_p.T573M|COL11A1_ENST00000353414.4_Missense_Mutation_p.T534M|COL11A1_ENST00000461720.1_5'UTR	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	573	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGTTTTCCCGTTGGACCAGG	0.348													11	63					0	0	0	0	A	103471837	G	A	103471837	3	1	216	1	0	0	0	0	1	0	0	0	3697	1145	40	1	3910	1	COL11A1	1	103471837	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	38193409	103471837	145778784	11	38388											
GSTM4	2948	broad.mit.edu	37	chr1	110199472	110199472	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggcaccaagcaacccatGgtggccacctgtggctacct	8	8	11	14	0	0	0	0	0	0	0	0	0	0	0	5	4	3	4	5	4	3	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:110199472G>A	ENST00000369833.1	+	0	229				GSTM4_ENST00000326729.5_Intron|GSTM4_ENST00000369836.4_Intron|GSTM4_ENST00000495742.1_Intron|GSTM4_ENST00000336075.5_Intron			Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4						xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	AGCAACCCATGGTGGCCACCT	0.617													6	56					0	0	0	0	A	110199472	G	A	110199472	1	1	216	1	0	0	0	0	0	0	0	0	6890	1363	47	4		4	GSTM4	1	110199472	Translation_Start_Site	SNP	G	TCGA-CR-7394-01A-11D-2012-08	6727635	110199472	139051149	12	38389											
NOTCH2	4853	broad.mit.edu	37	chr1	120480557	120480557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatccagatggacataggCactgggactctgcttttttc	8	12	9	12	0	1	1	0	0	1	1	3	3	2	3	2	3	1	2	2	3	1	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:120480557C>T	ENST00000256646.2	-	20	3479	c.3260G>A	c.(3259-3261)tGc>tAc	p.C1087Y		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1087	EGF-like 28.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		TGGACATAGGCACTGGGACTC	0.517			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				10	47					0	0	0	0	T	120480557	C	T	120480557	3	4	216	1	0	0	0	0	1	0	0	0	10618	710	25	4	4215	4	NOTCH2	1	120480557	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	10281085	120480557	128770064	13	38390											
NOTCH2	4853	broad.mit.edu	37	chr1	120548096	120548096	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaccctgaggcacatcGgcacgtggctttccccagca	9	8	10	14	2	0	1	0	1	0	0	2	1	1	1	3	3	2	5	3	3	2	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:120548096G>A	ENST00000256646.2	-	3	490	c.271C>T	c.(271-273)Cga>Tga	p.R91*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.R52*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	91	EGF-like 2.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		GAGGCACATCGGCACGTGGCT	0.557			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				10	112					0	0	0	0	A	120548096	G	A	120548096	4	1	216	1	0	0	0	0	0	1	0	0	10618	1124	39	1	7272	1	NOTCH2	1	120548096	Nonsense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	67539	120548096	128702525	14	38391											
RPS27	6232	broad.mit.edu	37	chr1	153964115	153964115	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttggctgctccactgtcctCtgccagcctacaggaggaaa	8	9	11	13	0	1	0	0	0	1	0	3	2	3	2	4	3	4	3	4	3	2	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:153964115C>G	ENST00000368567.4	+	3	227	c.189C>G	c.(187-189)ctC>ctG	p.L63L	RPS27_ENST00000392558.4_3'UTR|RPS27_ENST00000493224.1_3'UTR	NM_001030.4	NP_001021.1	P42677	RS27_HUMAN	ribosomal protein S27	63					cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCACTGTCCTCTGCCAGCCTA	0.398													5	51					0	0	0	0	G	153964115	C	G	153964115	2	3	216	1	0	0	0	0	0	0	0	1	13723	900	32	2		2	RPS27	1	153964115	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	33416019	153964115	95286506	15	38392											
CRABP2	1382	broad.mit.edu	37	chr1	156670736	156670736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagttaatctctgtggtgCgcacggtggtggaggttttg	6	14	16	5	2	1	1	0	1	1	0	2	2	1	2	0	5	1	3	0	5	2	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:156670736C>T	ENST00000368222.3	-	2	333	c.179G>A	c.(178-180)cGc>cAc	p.R60H	CRABP2_ENST00000368221.1_Missense_Mutation_p.R60H	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	60					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity	p.R60H(2)		endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	CTCTGTGGTGCGCACGGTGGT	0.552													4	96					0	0	0	0	T	156670736	C	T	156670736	3	4	216	1	0	0	0	0	1	0	0	0	3874	768	27	1	249	1	CRABP2	1	156670736	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	2706621	156670736	92579885	16	38393											
CNTN2	6900	broad.mit.edu	37	chr1	205039123	205039123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctttgaggtcaagatcCgcagctacaaccgccgcggg	8	6	12	15	5	1	2	1	1	0	1	2	2	2	2	4	2	3	2	4	2	3	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:205039123C>T	ENST00000331830.4	+	18	2649	c.2365C>T	c.(2365-2367)Cgc>Tgc	p.R789C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	789	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGTCAAGATCCGCAGCTACAA	0.662													9	71					0	0	0	0	T	205039123	C	T	205039123	3	4	216	1	0	0	0	0	1	0	0	0	3671	652	23	1	2431	1	CNTN2	1	205039123	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	48368387	205039123	44211498	17	38394											
ESRRG	2104	broad.mit.edu	37	chr1	216680464	216680464	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcttcataatcctgcagCgcttcatgtaagacatcctg	10	11	7	13	1	2	1	2	0	0	1	4	1	4	1	3	0	3	4	3	0	2	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:216680464C>A	ENST00000391890.3	-	9	1663	c.1146G>T	c.(1144-1146)gcG>gcT	p.A382A	ESRRG_ENST00000408911.3_Silent_p.A398A|ESRRG_ENST00000366938.2_Silent_p.A375A|ESRRG_ENST00000366940.2_Silent_p.A375A|ESRRG_ENST00000361525.3_Silent_p.A375A|ESRRG_ENST00000463665.1_Silent_p.A336A|ESRRG_ENST00000487276.1_Silent_p.A375A|ESRRG_ENST00000361395.2_Silent_p.A375A|ESRRG_ENST00000359162.2_Silent_p.A375A|ESRRG_ENST00000360012.3_Silent_p.A375A|ESRRG_ENST00000366937.1_Silent_p.A410A|ESRRG_ENST00000493748.1_Silent_p.A375A|ESRRG_ENST00000493603.1_Silent_p.A375A	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	398					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AATCCTGCAGCGCTTCATGTA	0.478													11	63					2.27111e-07	2.44074e-07	1	0	A	216680464	C	A	216680464	2	1	216	1	0	0	0	0	0	0	0	1	5300	755	27	3		3	ESRRG	1	216680464	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	11641341	216680464	32570157	18	38395											
CDC42BPA	8476	broad.mit.edu	37	chr1	227300480	227300480	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggacatggcgagcaagtttCtgtttttgggtgtgcaattc	7	14	13	7	2	1	0	0	0	1	0	2	2	1	1	0	3	2	4	0	3	2	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:227300480C>T	ENST00000366769.3	-	13	3073	c.1782G>A	c.(1780-1782)caG>caA	p.Q594Q	CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000535525.1_Silent_p.Q594Q|CDC42BPA_ENST00000366764.2_Silent_p.Q594Q|CDC42BPA_ENST00000334218.5_Silent_p.Q594Q|CDC42BPA_ENST00000366765.3_Silent_p.Q594Q|CDC42BPA_ENST00000366766.2_Silent_p.Q594Q	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	594					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGCAAGTTTCTGTTTTTGGG	0.468													16	210					0	0	0	0	T	227300480	C	T	227300480	2	4	216	1	0	0	0	0	0	0	0	1	3101	912	32	2		2	CDC42BPA	1	227300480	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	10620016	227300480	21950141	19	38396											
DISC1	27185	broad.mit.edu	37	chr1	231830190	231830190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggagaagcagaaggctGcccaccatccagagaggctg	12	4	14	11	1	0	3	0	0	0	3	1	5	1	3	3	3	2	3	3	3	2	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:231830190G>A	ENST00000439617.2	+	2	739	c.686G>A	c.(685-687)tGc>tAc	p.C229Y	TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.C229Y|DISC1_ENST00000537876.1_Missense_Mutation_p.C229Y|DISC1_ENST00000317586.4_Missense_Mutation_p.C229Y|DISC1_ENST00000366636.4_Missense_Mutation_p.C229Y|DISC1_ENST00000535983.1_Missense_Mutation_p.C229Y|DISC1_ENST00000539444.1_Missense_Mutation_p.C229Y|DISC1_ENST00000366633.3_Missense_Mutation_p.C229Y|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366637.3_5'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	229	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCAGAAGGCTGCCCACCATCC	0.617													9	58					0	0	0	0	A	231830190	G	A	231830190	3	1	216	1	0	0	0	0	1	0	0	0	4575	1319	46	4	692	4	DISC1	1	231830190	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	4529710	231830190	17420431	20	38397											
KIF26B	55083	broad.mit.edu	37	chr1	245850124	245850124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagacgctcttccatcagctCctggctgagcgagatgagcg	8	8	12	13	3	2	4	1	2	1	2	4	5	4	4	2	1	3	3	2	1	0	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:245850124C>T	ENST00000366518.4	+	9	2800	c.2696C>T	c.(2695-2697)tCc>tTc	p.S899F	KIF26B_ENST00000407071.2_Missense_Mutation_p.S1280F			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1280					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S1280C(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCCATCAGCTCCTGGCTGAGC	0.612													4	36					0	0	0	0	T	245850124	C	T	245850124	3	4	216	1	0	0	0	0	1	0	0	0	8346	855	30	2	3885	2	KIF26B	1	245850124	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	14019934	245850124	3400497	21	38398											
CNGA3	1261	broad.mit.edu	37	chr2	99013345	99013345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacggccaacatccgcagcaTtggctactcagacctgttct	9	9	9	14	2	2	1	1	0	1	1	3	2	3	1	3	2	3	4	3	2	2	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:99013345T>C	ENST00000393504.1	+	8	2129	c.1712T>C	c.(1711-1713)aTt>aCt	p.I571T	CNGA3_ENST00000409937.1_Missense_Mutation_p.I575T|CNGA3_ENST00000436404.2_Missense_Mutation_p.I553T|CNGA3_ENST00000272602.2_Missense_Mutation_p.I571T	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	571					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ATCCGCAGCATTGGCTACTCA	0.587													19	134					0	0	0	0	C	99013345	T	C	99013345	3	2	216	1	0	0	0	0	1	0	0	0	3628	1493	52	5	1738	5	CNGA3	2	99013345	Missense_Mutation	SNP	T	TCGA-CR-7394-01A-11D-2012-08		99013345	144186028	22	38399											
UBXN4	23190	broad.mit.edu	37	chr2	136536546	136536546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacacttacggtaatttttCgttagcaaccatgtttccca	11	14	5	11	2	0	0	0	0	0	0	2	0	1	0	2	1	4	4	2	1	5	6			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:136536546C>T	ENST00000272638.9	+	11	1393	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	361	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GGTAATTTTTCGTTAGCAACC	0.358													7	60					0	0	0	0	T	136536546	C	T	136536546	3	4	216	1	0	0	0	0	1	0	0	0	17012	893	31	1	1124	1	UBXN4	2	136536546	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	37523201	136536546	106662827	23	38400											
GPD2	2820	broad.mit.edu	37	chr2	157352715	157352715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtggctgtgcgctagatGctgtcaccagaggtaagtct	9	10	14	8	1	2	2	1	0	1	2	2	3	2	2	1	2	2	4	1	2	3	2	rs115026480	by1000genomes	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:157352715G>A	ENST00000310454.6	+	3	634	c.262G>A	c.(262-264)Gct>Act	p.A88T	GPD2_ENST00000409674.1_Missense_Mutation_p.A88T|GPD2_ENST00000409125.4_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.A88T|GPD2_ENST00000540309.1_Missense_Mutation_p.A88T	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	88					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TGCGCTAGATGCTGTCACCAG	0.413													5	30					0	0	0	0	A	157352715	G	A	157352715	3	1	216	1	0	0	0	0	1	0	0	0	6655	1319	46	4	268	4	GPD2	2	157352715	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	20816169	157352715	85846658	24	38401											
ITGA6	3655	broad.mit.edu	37	chr2	173355777	173355777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacaactcaagaaagaaacGggaaattactgaaaaacaga	22	5	7	7	1	2	4	2	1	0	3	2	5	2	5	0	1	4	0	0	1	8	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:173355777G>A	ENST00000375221.2	+	22	3025	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.R783Q|ITGA6_ENST00000409080.1_Missense_Mutation_p.R902Q|ITGA6_ENST00000343713.4_Missense_Mutation_p.R897Q|ITGA6_ENST00000264107.7_Missense_Mutation_p.R902Q|ITGA6_ENST00000264106.6_Missense_Mutation_p.R941Q			P23229	ITA6_HUMAN	integrin, alpha 6	941					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	p.R902L(4)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGAAAGAAACGGGAAATTACT	0.299													18	167					0	0	0	0	A	173355777	G	A	173355777	3	1	216	1	0	0	0	0	1	0	0	0	7933	1116	39	1	2787	1	ITGA6	2	173355777	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	16003062	173355777	69843596	25	38402											
NAB1	4664	broad.mit.edu	37	chr2	191524148	191524148	+	Silent	SNP	C	C	T																															gtcacaaaccctgggcttttCaatcagccactgacttccct																										TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:191524148C>T	ENST00000337386.5	+	4	707	c.246C>T	c.(244-246)ttC>ttT	p.F82F	NAB1_ENST00000409641.1_Silent_p.F82F|NAB1_ENST00000357215.5_Silent_p.F82F|NAB1_ENST00000409581.1_Silent_p.F82F	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	82	NCD1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CTGGGCTTTTCAATCAGCCAC	0.478													4	80					0	0	0	0	T	191524148	C	T	191524148	2	4	216	1	0	0	0	0	0	0	0	1	10201	825	29	2		2	NAB1	2	191524148	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	18168371	191524148	51675225	26	38403	289	2									
NAB1	4664	broad.mit.edu	37	chr2	191524152	191524152	+	Missense_Mutation	SNP	C	C	G																															caaaccctgggcttttcaatCagccactgacttcccttcct																										TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:191524152C>G	ENST00000337386.5	+	4	711	c.250C>G	c.(250-252)Cag>Gag	p.Q84E	NAB1_ENST00000409641.1_Missense_Mutation_p.Q84E|NAB1_ENST00000357215.5_Missense_Mutation_p.Q84E|NAB1_ENST00000409581.1_Missense_Mutation_p.Q84E	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	84					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GCTTTTCAATCAGCCACTGAC	0.493													4	82					0	0	0	0	G	191524152	C	G	191524152	3	3	216	1	0	0	0	0	1	0	0	0	10201	827	29	2	252	2	NAB1	2	191524152	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	4	191524152	51675221	27	38404	289	2									
SF3B1	23451	broad.mit.edu	37	chr2	198299715	198299715	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcgtgagtcttggcgatCttcgccattttgtccactcg	4	15	9	13	4	2	1	0	1	2	0	6	2	3	1	3	1	0	0	3	1	0	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:198299715C>T	ENST00000335508.5	-	1	100	c.9G>A	c.(7-9)aaG>aaA	p.K3K	SF3B1_ENST00000409915.4_Silent_p.K3K|SF3B1_ENST00000414963.2_Silent_p.K3K|SF3B1_ENST00000487698.1_Silent_p.K3K	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	3					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTTGGCGATCTTCGCCATTT	0.517			Mis		myelodysplastic syndrome								5	62					0	0	0	0	T	198299715	C	T	198299715	2	4	216	1	0	0	0	0	0	0	0	1	14236	912	32	2		2	SF3B1	2	198299715	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	6775563	198299715	44899658	28	38405											
CASP8	841	broad.mit.edu	37	chr2	202137620	202137620	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtttccccttttaattcaGagagaagcagcagccttgaa	11	11	10	9	0	1	3	1	1	0	2	2	4	2	3	3	1	3	3	3	1	3	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:202137620G>C	ENST00000358485.4	+	5	923		c.e5-1		CASP8_ENST00000392266.3_Intron|CASP8_ENST00000323492.7_Intron|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000264275.5_Intron|CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392259.2_Splice_Site	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTTTAATTCAGAGAGAAGCAG	0.368										HNSCC(4;0.00038)			4	80					0	0	0	0	C	202137620	G	C	202137620	5	2	216	1	0	0	0	0	0	0	1	0	2702	956	33	2	845	2	CASP8	2	202137620	Splice_Site	SNP	G	TCGA-CR-7394-01A-11D-2012-08	3837905	202137620	41061753	29	38406											
STRADB	55437	broad.mit.edu	37	chr2	202340452	202340452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaactatctgcaccaaaatGgctgtattcacaggtattta	13	13	7	8	0	2	1	1	1	1	0	2	1	2	1	1	2	2	4	1	2	7	6			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:202340452G>A	ENST00000194530.3	+	7	900	c.535G>A	c.(535-537)Ggc>Agc	p.G179S	STRADB_ENST00000392249.2_Missense_Mutation_p.G179S	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	179	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GCACCAAAATGGCTGTATTCA	0.338													18	90					0	0	0	0	A	202340452	G	A	202340452	3	1	216	1	0	0	0	0	1	0	0	0	15415	1348	47	4	557	4	STRADB	2	202340452	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	202832	202340452	40858921	30	38407											
DYTN	391475	broad.mit.edu	37	chr2	207530693	207530693	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgacaaattctttcttcCtgggaggtgtatatagcttg	10	15	9	7	1	2	0	0	0	2	0	4	2	3	1	1	2	1	2	1	2	5	7			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:207530693C>T	ENST00000452335.2	-	10	1157	c.1041G>A	c.(1039-1041)caG>caA	p.Q347Q		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	347						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TTCTTTCTTCCTGGGAGGTGT	0.408													10	74					0	0	0	0	T	207530693	C	T	207530693	2	4	216	1	0	0	0	0	0	0	0	1	4897	680	24	4		4	DYTN	2	207530693	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	5190241	207530693	35668680	31	38408											
ERBB4	2066	broad.mit.edu	37	chr2	212530201	212530201	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actttgtacagttgtcaggaCcctgaaatgtgaaaacgaaa	15	10	9	7	1	1	2	1	2	0	0	1	4	1	3	1	1	2	2	1	1	5	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:212530201C>T	ENST00000342788.4	-	15	2028	c.1716_splice	c.e15-1	p.G573_splice	ERBB4_ENST00000436443.1_Splice_Site_p.G573_splice|ERBB4_ENST00000402597.1_Splice_Site_p.G573_splice	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	573	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTTGTCAGGACCCTGAAATGT	0.393										TSP Lung(8;0.080)			4	47					0	0	0	0	T	212530201	C	T	212530201	5	4	216	1	0	0	0	0	0	0	1	0	5247	521	18	4	2264	4	ERBB4	2	212530201	Splice_Site	SNP	C	TCGA-CR-7394-01A-11D-2012-08	4999508	212530201	30669172	32	38409											
SPEG	10290	broad.mit.edu	37	chr2	220355164	220355164	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgtgcgagcgtgccgggaGaatgccacggggcgaacgtt	7	7	18	9	6	0	1	0	0	0	1	0	4	0	1	2	3	5	2	2	3	2	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:220355164G>A	ENST00000312358.7	+	37	9087	c.8955G>A	c.(8953-8955)gaG>gaA	p.E2985E	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2985	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGTGCCGGGAGAATGCCACGG	0.672													8	59					0	0	0	0	A	220355164	G	A	220355164	2	1	216	1	0	0	0	0	0	0	0	1	15126	933	33	2		2	SPEG	2	220355164	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	7824963	220355164	22844209	33	38410											
CRBN	51185	broad.mit.edu	37	chr3	3215782	3215782	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttctatctttctgaattAaattccgcaccatactgact	11	15	5	10	1	3	2	0	2	3	0	4	2	4	2	2	1	1	2	2	1	5	6			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:3215782A>G	ENST00000231948.4	-	3	360	c.338T>C	c.(337-339)tTa>tCa	p.L113S	CRBN_ENST00000432408.2_Missense_Mutation_p.L112S	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	113	Lon.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		TTTCTGAATTAAATTCCGCAC	0.408													4	54					0	0	0	0	G	3215782	A	G	3215782	3	3	216	1	0	0	0	0	1	0	0	0	3881	372	13	5	1026	5	CRBN	3	3215782	Missense_Mutation	SNP	A	TCGA-CR-7394-01A-11D-2012-08		3215782	194806648	34	38411											
DLEC1	9940	broad.mit.edu	37	chr3	38081059	38081059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcggcgacgaagtgagcGcaagcttgatcaaggcccgc	10	6	13	12	5	2	2	2	2	0	0	3	4	2	2	1	2	2	2	1	2	3	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:38081059G>A	ENST00000308059.6	+	1	364	c.343G>A	c.(343-345)Gca>Aca	p.A115T	DLEC1_ENST00000346219.3_Missense_Mutation_p.A115T|DLEC1_ENST00000452631.2_Missense_Mutation_p.A115T			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	115					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGAAGTGAGCGCAAGCTTGAT	0.642													4	114					0	0	0	0	A	38081059	G	A	38081059	3	1	216	1	0	0	0	0	1	0	0	0	4589	1087	38	1	345	1	DLEC1	3	38081059	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	34865277	38081059	159941371	35	38412											
SNRK	54861	broad.mit.edu	37	chr3	43381993	43381993	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcgagacgccattgtagagTacgtcaatgcccgtcagtac	11	9	10	11	4	2	2	2	0	0	2	3	3	2	2	2	0	3	3	2	0	4	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:43381993T>C	ENST00000296088.7	+	5	1248		c.e5+2		SNRK_ENST00000454177.1_Splice_Site|SNRK_ENST00000429705.2_Splice_Site|SNRK_ENST00000437827.1_Splice_Site	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase						myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CATTGTAGAGTACGTCAATGC	0.488													5	38					0	0	0	0	C	43381993	T	C	43381993	5	2	216	1	0	0	0	0	0	0	1	0	14939	1652	57	5	956	5	SNRK	3	43381993	Splice_Site	SNP	T	TCGA-CR-7394-01A-11D-2012-08	5300934	43381993	154640437	36	38413											
COL7A1	1294	broad.mit.edu	37	chr3	48629337	48629337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccccgcactgaccagtctCacgccgccattccaaccggt	7	7	7	20	4	1	1	1	1	1	0	4	1	3	1	7	1	1	1	7	1	1	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:48629337C>G	ENST00000328333.8	-	10	1458	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.E451Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	451	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGACCAGTCTCACGCCGCCAT	0.632													14	105					0	0	0	0	G	48629337	C	G	48629337	3	3	216	1	0	0	0	0	1	0	0	0	3734	835	29	2	7919	2	COL7A1	3	48629337	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	5247344	48629337	149393093	37	38414											
SLMAP	7871	broad.mit.edu	37	chr3	57875802	57875802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagggcatctaaccaaagcGgtagaagaaacaaagctttc	17	6	10	8	1	1	2	0	0	1	2	2	3	1	2	1	2	4	3	1	2	7	3	rs148417939		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:57875802G>A	ENST00000383718.3	+	13	1370	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A	SLMAP_ENST00000449503.2_Silent_p.A390A|SLMAP_ENST00000428312.1_Silent_p.A428A|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000442599.2_5'UTR|SLMAP_ENST00000295951.3_Silent_p.A411A|SLMAP_ENST00000295952.3_Silent_p.A411A|SLMAP_ENST00000472546.1_3'UTR			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	428					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TAACCAAAGCGGTAGAAGAAA	0.393													3	51					0	0	0	0	A	57875802	G	A	57875802	2	1	216	1	0	0	0	0	0	0	0	1	14837	1103	39	1		1	SLMAP	3	57875802	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	9246465	57875802	140146628	38	38415											
ALCAM	214	broad.mit.edu	37	chr3	105253681	105253681	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaacaggcagtatttgAtatttactgtaagtaattca	13	16	7	5	0	2	2	1	2	1	0	2	2	2	2	0	1	2	4	0	1	6	9			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:105253681A>G	ENST00000306107.5	+	6	1222	c.722A>G	c.(721-723)gAt>gGt	p.D241G	ALCAM_ENST00000472644.2_Missense_Mutation_p.D241G|ALCAM_ENST00000486979.2_Missense_Mutation_p.D190G|ALCAM_ENST00000389927.4_Missense_Mutation_p.D50G|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	241					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GCAGTATTTGATATTTACTGT	0.323													6	31					0	0	0	0	G	105253681	A	G	105253681	3	3	216	1	0	0	0	0	1	0	0	0	487	333	12	5	744	5	ALCAM	3	105253681	Missense_Mutation	SNP	A	TCGA-CR-7394-01A-11D-2012-08	47377879	105253681	92768749	39	38416											
STXBP5L	9515	broad.mit.edu	37	chr3	120977900	120977900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttaaagtgtgaagacaCggccagtgcgaatgcctcca	11	9	11	10	2	1	2	0	1	1	1	2	3	2	2	3	1	2	1	3	1	4	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:120977900C>T	ENST00000273666.6	+	18	2114	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	STXBP5L_ENST00000497029.1_Missense_Mutation_p.R615W|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R615W|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R615W|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R615W	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	615					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGTGAAGACACGGCCAGTGCG	0.373													4	32					0	0	0	0	T	120977900	C	T	120977900	3	4	216	1	0	0	0	0	1	0	0	0	15447	527	19	1	1909	1	STXBP5L	3	120977900	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	15724219	120977900	77044530	40	38417											
PIK3CA	5290	broad.mit.edu	37	chr3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaacaggagaagaaggatGaaacacaaaaggtgtgtgac	19	5	12	5	0	1	4	1	2	0	2	1	6	1	5	0	3	2	0	0	3	6	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E726K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAGAAGGATGAAACACAAAA	0.428		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	28					0	0	0	0	A	178938934	G	A	178938934	3	1	216	1	0	0	0	0	1	0	0	0	11985	1291	45	2	2226	2	PIK3CA	3	178938934	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	57961034	178938934	19083496	41	38418											
CEP135	9662	broad.mit.edu	37	chr4	56830508	56830508	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggtcggtcccctgatgtCctttctctggagtctagaaa	6	13	12	10	1	2	2	0	1	2	1	6	3	4	3	3	4	0	0	3	4	2	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:56830508C>A	ENST00000257287.4	+	7	892	c.768C>A	c.(766-768)gtC>gtA	p.V256V		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	256					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CCCCTGATGTCCTTTCTCTGG	0.353													5	38					1.23904e-05	1.32608e-05	1	0	A	56830508	C	A	56830508	2	1	216	1	0	0	0	0	0	0	0	1	3276	842	30	2		2	CEP135	4	56830508	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08		56830508	134323768	42	38419											
ENAM	10117	broad.mit.edu	37	chr4	71509145	71509145	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgaagtctttcctggaCaaaatagatggggtgaagag	14	9	14	4	0	1	5	0	2	1	3	2	7	2	6	1	3	0	0	1	3	5	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:71509145C>T	ENST00000396073.3	+	9	2283	c.2002C>T	c.(2002-2004)Caa>Taa	p.Q668*	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	668					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTTTCCTGGACAAAATAGATG	0.443													9	74					0	0	0	0	T	71509145	C	T	71509145	4	4	216	1	0	0	0	0	0	1	0	0	5150	479	17	4	2032	4	ENAM	4	71509145	Nonsense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	14678637	71509145	119645131	43	38420											
NUP54	53371	broad.mit.edu	37	chr4	77057369	77057369	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaagggattttcttgtgtGaattccactggcggaatatt	11	14	10	6	1	1	1	0	1	1	0	2	3	2	3	1	3	0	0	1	3	5	6			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:77057369G>A	ENST00000264883.3	-	4	632	c.492C>T	c.(490-492)ttC>ttT	p.F164F	NUP54_ENST00000514987.1_Silent_p.F116F|NUP54_ENST00000458189.2_Intron|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_5'UTR	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	164	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TTTCTTGTGTGAATTCCACTG	0.323													5	61					0	0	0	0	A	77057369	G	A	77057369	2	1	216	1	0	0	0	0	0	0	0	1	10838	1281	45	2		2	NUP54	4	77057369	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	5548224	77057369	114096907	44	38421											
NAP1L5	266812	broad.mit.edu	37	chr4	89618774	89618774	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgaccagccgcgctgtcAgggtcaccagccgcgctgtc	6	7	12	16	4	3	1	2	1	1	0	4	1	3	1	4	1	2	2	4	1	0	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:89618774A>G	ENST00000323061.5	-	1	612	c.132T>C	c.(130-132)ccT>ccC	p.P44P	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	44					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		CCGCGCTGTCAGGGTCACCAg	0.642													3	109					0	0	0	0	G	89618774	A	G	89618774	2	3	216	1	0	0	0	0	0	0	0	1	10230	175	7	5		5	NAP1L5	4	89618774	Silent	SNP	A	TCGA-CR-7394-01A-11D-2012-08	12561405	89618774	101535502	45	38422											
PDLIM5	10611	broad.mit.edu	37	chr4	95497118	95497118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtcaccagcgtgtgttccGagacttctcaggagctagca	9	9	11	12	2	2	1	2	0	1	1	4	3	3	2	2	1	3	3	2	1	1	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:95497118G>A	ENST00000317968.4	+	5	779	c.643G>A	c.(643-645)Gag>Aag	p.E215K	PDLIM5_ENST00000437932.1_Missense_Mutation_p.E106K|PDLIM5_ENST00000514743.1_Missense_Mutation_p.E106K|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000380180.3_Missense_Mutation_p.E106K|PDLIM5_ENST00000542407.1_Missense_Mutation_p.E93K|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000508216.1_Missense_Mutation_p.E106K|PDLIM5_ENST00000450793.1_Missense_Mutation_p.E106K	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	215					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CGTGTGTTCCGAGACTTCTCA	0.512													11	60					0	0	0	0	A	95497118	G	A	95497118	3	1	216	1	0	0	0	0	1	0	0	0	11754	1059	37	1	657	1	PDLIM5	4	95497118	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	5878344	95497118	95657158	46	38423											
LRIT3	345193	broad.mit.edu	37	chr4	110791477	110791477	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtattccaagtatggtggGaaggacctgctgctgttgaa	9	13	13	6	0	0	1	0	1	0	0	1	3	1	3	2	3	2	5	2	3	5	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:110791477G>T	ENST00000327908.3	+	4	1787	c.1023G>T	c.(1021-1023)ggG>ggT	p.G341G	LRIT3_ENST00000594814.1_Silent_p.G524G|LRIT3_ENST00000379920.3_Silent_p.G479G|LRIT3_ENST00000409621.2_Silent_p.G341G			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	479	Ser-rich.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AGTATGGTGGGAAGGACCTGC	0.483													16	114					1.99824e-07	2.15643e-07	1	0	T	110791477	G	T	110791477	2	4	216	1	0	0	0	0	0	0	0	1	9013	1161	41	2		2	LRIT3	4	110791477	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	15294359	110791477	80362799	47	38424											
KIAA1109	84162	broad.mit.edu	37	chr4	123159467	123159467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccatttggttcaaaaagaGttcttgcatgggacaaaaag	15	10	10	6	0	2	1	1	0	1	1	2	3	2	2	1	2	1	3	1	2	4	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:123159467G>A	ENST00000264501.4	+	28	4168	c.3795G>A	c.(3793-3795)gaG>gaA	p.E1265E	KIAA1109_ENST00000388738.3_Silent_p.E1265E|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Silent_p.E1265E			Q2LD37	K1109_HUMAN	KIAA1109	1265					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCAAAAAGAGTTCTTGCATG	0.388													8	60					0	0	0	0	A	123159467	G	A	123159467	2	1	216	1	0	0	0	0	0	0	0	1	8259	1020	36	4		4	KIAA1109	4	123159467	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	12367990	123159467	67994809	48	38425											
FAT1	2195	broad.mit.edu	37	chr4	187535344	187535344	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtcccaaactccatcattaCctgtgtctggatttagtttg	8	16	7	10	0	2	0	1	0	1	0	4	1	4	1	3	1	2	1	3	1	3	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:187535344C>T	ENST00000441802.2	-	12	9439		c.e12+1			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCATCATTACCTGTGTCTGG	0.368										HNSCC(5;0.00058)			36	108					0	0	0	0	T	187535344	C	T	187535344	5	4	216	1	0	0	0	0	0	0	1	0	5734	521	18	4	4600	4	FAT1	4	187535344	Splice_Site	SNP	C	TCGA-CR-7394-01A-11D-2012-08	64375877	187535344	3618932	49	38426											
SLC6A3	6531	broad.mit.edu	37	chr5	1416262	1416262	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggagaaggcgatcagcaCcccgaaccccacgcccaggg	10	2	13	16	3	1	1	1	0	0	1	1	4	1	1	5	3	2	2	5	3	2	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:1416262C>A	ENST00000270349.9	-	7	1109	c.982G>T	c.(982-984)Gtg>Ttg	p.V328L	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V328L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	328					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCGATCAGCACCCCGAACCCC	0.617													4	61					0.00909568	0.00942312	1	0	A	1416262	C	A	1416262	3	1	216	1	0	0	0	0	1	0	0	0	14773	507	18	4	916	4	SLC6A3	5	1416262	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08		1416262	179498998	50	38427											
MARCH6	10299	broad.mit.edu	37	chr5	10423860	10423860	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccctaggactgggcacttgGagtcctgcatgccaaaatca	10	9	10	12	0	1	0	1	0	0	0	3	2	3	2	3	3	2	2	3	3	3	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:10423860G>C	ENST00000274140.5	+	23	2429	c.2297G>C	c.(2296-2298)gGa>gCa	p.G766A	MARCH6_ENST00000510792.1_Missense_Mutation_p.G464A|MARCH6_ENST00000449913.2_Missense_Mutation_p.G718A|MARCH6_ENST00000503788.1_Missense_Mutation_p.G661A	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	766					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGGGCACTTGGAGTCCTGCAT	0.358													3	25					0	0	0	0	C	10423860	G	C	10423860	3	2	216	1	0	0	0	0	1	0	0	0	9374	1174	41	2	2387	2	MARCH6	5	10423860	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	9007598	10423860	170491400	51	38428											
CTNND2	1501	broad.mit.edu	37	chr5	11346704	11346704	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggctgcctgtgcgctGcaaggggacggagtcgacac	6	7	17	11	3	0	0	0	0	0	0	1	3	0	2	1	4	4	4	1	4	1	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:11346704G>A	ENST00000304623.8	-	9	1597	c.1408C>T	c.(1408-1410)Cag>Tag	p.Q470*	CTNND2_ENST00000458100.2_Nonsense_Mutation_p.Q37*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q133*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q470*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q379*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	470					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCTGTGCGCTGCAAGGGGACG	0.607													7	58					0	0	0	0	A	11346704	G	A	11346704	4	1	216	1	0	0	0	0	0	1	0	0	4052	1328	46	4	2325	4	CTNND2	5	11346704	Nonsense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	922844	11346704	169568556	52	38429											
MAST4	375449	broad.mit.edu	37	chr5	66461496	66461496	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcttctggcagagagccGggggccaagcccagcactgc	8	4	14	15	2	1	1	0	0	1	1	1	2	1	1	3	3	4	3	3	3	1	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:66461496G>A	ENST00000404260.3	+	29	6806	c.6498G>A	c.(6496-6498)ccG>ccA	p.P2166P	MAST4_ENST00000405643.1_Silent_p.P1984P|MAST4_ENST00000403666.1_Silent_p.P1974P|MAST4_ENST00000403625.2_Silent_p.P2163P|MAST4_ENST00000261569.7_Silent_p.P1969P			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2166	Pro-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCAGAGAGCCGGGGGCCAAGC	0.682													3	11					0	0	0	0	A	66461496	G	A	66461496	2	1	216	1	0	0	0	0	0	0	0	1	9396	1103	39	1		1	MAST4	5	66461496	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	55114792	66461496	114453764	53	38430											
CD180	4064	broad.mit.edu	37	chr5	66479817	66479817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatgagatgtcagagaagCggtgttcctgcaggttgagg	9	10	17	5	1	1	3	1	2	0	2	2	6	2	4	1	4	2	3	1	4	1	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:66479817C>T	ENST00000256447.4	-	3	1011	c.854G>A	c.(853-855)cGc>cAc	p.R285H		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	285					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GTCAGAGAAGCGGTGTTCCTG	0.473													12	70					0	0	0	0	T	66479817	C	T	66479817	3	4	216	1	0	0	0	0	1	0	0	0	3001	768	27	1	1135	1	CD180	5	66479817	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	18321	66479817	114435443	54	38431											
CCDC125	202243	broad.mit.edu	37	chr5	68590675	68590675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctgccattctggcacaaGaacaggggttccctccgggc	8	8	12	13	1	1	1	0	0	1	1	3	1	3	1	3	4	3	3	3	4	2	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:68590675G>A	ENST00000396496.2	-	9	976	c.869C>T	c.(868-870)tCt>tTt	p.S290F	CCDC125_ENST00000511257.1_Missense_Mutation_p.S165F|CCDC125_ENST00000383374.2_Intron|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.S290F			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	290						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TCTGGCACAAGAACAGGGGTT	0.463													14	171					0	0	0	0	A	68590675	G	A	68590675	3	1	216	1	0	0	0	0	1	0	0	0	2786	942	33	2	682	2	CCDC125	5	68590675	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	2110858	68590675	112324585	55	38432											
LNPEP	4012	broad.mit.edu	37	chr5	96314945	96314945	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttacatcctctagagccTgatgaggtggaatatgagcc	10	12	11	8	0	1	4	0	3	1	1	2	5	2	5	3	2	3	1	3	2	4	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:96314945T>C	ENST00000231368.5	+	2	815	c.123T>C	c.(121-123)ccT>ccC	p.P41P	LNPEP_ENST00000395770.3_Silent_p.P27P	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	41					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTCTAGAGCCTGATGAGGTGG	0.502													3	111					0	0	0	0	C	96314945	T	C	96314945	2	2	216	1	0	0	0	0	0	0	0	1	8919	1567	55	5		5	LNPEP	5	96314945	Silent	SNP	T	TCGA-CR-7394-01A-11D-2012-08	27724270	96314945	84600315	56	38433											
RIOK2	55781	broad.mit.edu	37	chr5	96498921	96498921	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacgtttcaccttctgtttCaccagttcctggaaagattt	8	16	7	10	1	3	2	2	1	1	1	4	3	4	3	3	1	0	3	3	1	1	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:96498921C>T	ENST00000283109.3	-	10	1571	c.1503G>A	c.(1501-1503)gtG>gtA	p.V501V	CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	501	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CCTTCTGTTTCACCAGTTCCT	0.353													4	41					0	0	0	0	T	96498921	C	T	96498921	2	4	216	1	0	0	0	0	0	0	0	1	13463	813	29	2		2	RIOK2	5	96498921	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	183976	96498921	84416339	57	38434											
GFRA3	2676	broad.mit.edu	37	chr5	137593489	137593489	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccctgcgcgtggggctcGgcggccttctcgaagaaagt	6	7	16	12	5	1	1	0	0	1	1	3	2	1	1	2	5	1	1	2	5	2	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:137593489G>A	ENST00000274721.3	-	4	870	c.624C>T	c.(622-624)gcC>gcT	p.A208A	GFRA3_ENST00000378362.3_Silent_p.A177A	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	208					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGTGGGGCTCGGCGGCCTTCT	0.726													10	56					0	0	0	0	A	137593489	G	A	137593489	2	1	216	1	0	0	0	0	0	0	0	1	6400	1103	39	1		1	GFRA3	5	137593489	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	41094568	137593489	43321771	58	38435											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764270	140764270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagattcaggccagaacGcctggctgtcatacctcctg	11	8	9	13	1	2	2	2	0	0	2	3	2	3	2	4	2	2	1	4	2	3	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:140764270G>T	ENST00000518325.1	+	1	1804	c.1804G>T	c.(1804-1806)Gcc>Tcc	p.A602S	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCAGAACGCCTGGCTGTC	0.642													11	118					1.5842e-08	1.71677e-08	1	0	T	140764270	G	T	140764270	3	4	216	1	0	0	0	0	1	0	0	0	11630	1087	38	3	1806	3	PCDHGA7	5	140764270	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	3170781	140764270	40150990	59	38436											
DPYSL3	1809	broad.mit.edu	37	chr5	146804509	146804509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgacgattctgcctcccttGataaggagacggtcactcta	9	12	9	11	2	3	3	1	2	2	1	4	5	4	3	2	2	1	0	2	2	2	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:146804509G>C	ENST00000343218.5	-	2	596	c.399C>G	c.(397-399)atC>atG	p.I133M	DPYSL3_ENST00000398514.3_Missense_Mutation_p.I19M|DPYSL3_ENST00000534907.1_Intron	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	19					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTCCCTTGATAAGGAGAC	0.368													6	64					0	0	0	0	C	146804509	G	C	146804509	3	2	216	1	0	0	0	0	1	0	0	0	4784	1280	45	2	1707	2	DPYSL3	5	146804509	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	6040239	146804509	34110751	60	38437											
HK3	3101	broad.mit.edu	37	chr5	176310832	176310832	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacatcatggtccccacCgtgtcattgacaatggcaac	11	8	9	13	1	2	1	2	1	0	0	3	2	3	2	3	3	1	1	3	3	2	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:176310832C>T	ENST00000292432.5	-	15	2083	c.1992G>A	c.(1990-1992)acG>acA	p.T664T		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	664	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTCCCCACCGTGTCATTGA	0.582													11	123					0	0	0	0	T	176310832	C	T	176310832	2	4	216	1	0	0	0	0	0	0	0	1	7242	639	23	1		1	HK3	5	176310832	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	29506323	176310832	4604428	61	38438											
HFE	3077	broad.mit.edu	37	chr6	26093372	26093372	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaccgtctggcaccctagtCattggagtcatcagtggaat	9	11	10	11	1	5	0	4	0	1	0	5	2	5	2	2	3	0	1	2	3	2	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:26093372C>T	ENST00000357618.5	+	5	1040	c.918C>T	c.(916-918)gtC>gtT	p.V306V	HFE_ENST00000309234.6_Silent_p.V306V|HFE_ENST00000336625.8_Silent_p.V200V|HFE_ENST00000397022.3_Silent_p.V283V|HFE_ENST00000349999.4_Silent_p.V218V|HFE_ENST00000470149.1_Silent_p.V303V|HFE_ENST00000488199.1_Silent_p.V204V|HFE_ENST00000461397.1_Silent_p.V292V|HFE_ENST00000352392.4_Silent_p.V34V|HFE_ENST00000317896.7_Silent_p.V214V|HFE_ENST00000353147.5_Silent_p.V126V	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	306	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCACCCTAGTCATTGGAGTCA	0.443									Hemochromatosis				5	46					0	0	0	0	T	26093372	C	T	26093372	2	4	216	1	0	0	0	0	0	0	0	1	7131	813	29	2		2	HFE	6	26093372	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08		26093372	145021695	62	38439											
HIST1H2BH	8345	broad.mit.edu	37	chr6	26252218	26252218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggccaagcacgccgtgtccGagggcactaaggccgtcacc	8	5	13	15	4	1	0	1	0	0	0	2	1	2	0	5	3	1	2	5	3	2	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:26252218G>C	ENST00000356350.2	+	1	340	c.340G>C	c.(340-342)Gag>Cag	p.E114Q		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	114					nucleosome assembly	nucleosome|nucleus	DNA binding	p.E114K(2)|p.E114Q(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CGCCGTGTCCGAGGGCACTAA	0.537													4	87					0	0	0	0	C	26252218	G	C	26252218	3	2	216	1	0	0	0	0	1	0	0	0	7197	1059	37	3	342	3	HIST1H2BH	6	26252218	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	158846	26252218	144862849	63	38440											
TRERF1	55809	broad.mit.edu	37	chr6	42231033	42231033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccccttggggtgagtGtgggggagagagggtcatcc	6	7	20	8	0	1	2	1	1	0	1	2	4	2	3	3	6	1	1	3	6	0	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:42231033G>A	ENST00000541110.1	-	8	2477	c.1909C>T	c.(1909-1911)Cac>Tac	p.H637Y	TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000372922.4_Intron|TRERF1_ENST00000372917.4_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	628	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGGGTGAGTGTGGGGGAGAG	0.657													15	85					0	0	0	0	A	42231033	G	A	42231033	3	1	216	1	0	0	0	0	1	0	0	0	16570	1392	48	4		4	TRERF1	6	42231033	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	15978815	42231033	128884034	64	38441											
SLC29A1	2030	broad.mit.edu	37	chr6	44201176	44201176	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtgaagccagctgaggcaGagaccgcaggagccatcatg	13	4	14	10	1	1	3	1	2	0	1	1	5	1	4	3	2	3	3	3	2	2	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:44201176G>C	ENST00000393841.1	+	14	1773	c.1282G>C	c.(1282-1284)Gag>Cag	p.E428Q	SLC29A1_ENST00000427851.2_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371731.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371755.3_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371708.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000313248.7_Missense_Mutation_p.E507Q|SLC29A1_ENST00000393844.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371724.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371713.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371740.5_Missense_Mutation_p.E428Q	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	428					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	AGCTGAGGCAGAGACCGCAGG	0.587													10	154					0	0	0	0	C	44201176	G	C	44201176	3	2	216	1	0	0	0	0	1	0	0	0	14622	943	33	2	1328	2	SLC29A1	6	44201176	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	1970143	44201176	126913891	65	38442											
RUNX2	860	broad.mit.edu	37	chr6	45480007	45480007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaggcacagtcttcccCgccgtggtcctatgaccagt	7	8	11	15	2	1	1	0	1	1	0	3	1	3	1	5	3	0	2	5	3	1	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:45480007C>T	ENST00000371438.1	+	6	1242	c.884C>T	c.(883-885)cCg>cTg	p.P295L	RUNX2_ENST00000371436.6_Missense_Mutation_p.P295L|RUNX2_ENST00000352853.5_Missense_Mutation_p.P363L|RUNX2_ENST00000465038.2_Missense_Mutation_p.P295L|RUNX2_ENST00000371432.3_Missense_Mutation_p.P281L|RUNX2_ENST00000541979.1_Missense_Mutation_p.P363L|RUNX2_ENST00000359524.5_Missense_Mutation_p.P281L|RUNX2_ENST00000576263.1_Missense_Mutation_p.P295L	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	295	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAGTCTTCCCCGCCGTGGTCC	0.532													8	95					0	0	0	0	T	45480007	C	T	45480007	3	4	216	1	0	0	0	0	1	0	0	0	13833	652	23	1	922	1	RUNX2	6	45480007	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	1278831	45480007	125635060	66	38443											
THEMIS	387357	broad.mit.edu	37	chr6	128134839	128134839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctgaagctaagattcttGatgcctggtactttttgtgg	7	18	10	6	0	2	3	0	2	2	1	2	3	2	3	1	2	3	2	1	2	3	7			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:128134839G>A	ENST00000368250.1	-	5	1208	c.710C>T	c.(709-711)tCa>tTa	p.S237L	THEMIS_ENST00000543064.1_Missense_Mutation_p.S316L|THEMIS_ENST00000537166.1_Missense_Mutation_p.S281L|THEMIS_ENST00000368248.2_Missense_Mutation_p.S316L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	316	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TAAGATTCTTGATGCCTGGTA	0.438													4	115					0	0	0	0	A	128134839	G	A	128134839	3	1	216	1	0	0	0	0	1	0	0	0	15954	1294	45	2	1111	2	THEMIS	6	128134839	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	82654832	128134839	42980228	67	38444											
ENPP1	5167	broad.mit.edu	37	chr6	132201070	132201070	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaagacctagagttctcCagaaggaaaacaccatctgt	15	8	9	9	0	2	3	0	0	2	3	3	5	2	5	3	2	1	1	3	2	5	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:132201070C>T	ENST00000360971.2	+	20	2016	c.1996C>T	c.(1996-1998)Cag>Tag	p.Q666*		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	666	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TAGAGTTCTCCAGAAGGAAAA	0.403													9	80					0	0	0	0	T	132201070	C	T	132201070	4	4	216	1	0	0	0	0	0	1	0	0	5167	595	21	4	2074	4	ENPP1	6	132201070	Nonsense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	4066231	132201070	38913997	68	38445											
SYNE1	23345	broad.mit.edu	37	chr6	152772295	152772295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacctattcttctccacatCaatcttcagatgaagcaaat	14	12	4	11	0	5	2	2	1	3	1	6	3	5	2	2	0	2	1	2	0	5	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:152772295C>G	ENST00000367255.5	-	26	3674	c.3073G>C	c.(3073-3075)Gat>Cat	p.D1025H	SYNE1_ENST00000413186.2_Missense_Mutation_p.D1025H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D1025H|SYNE1_ENST00000367248.3_Missense_Mutation_p.D1015H|SYNE1_ENST00000367253.4_Missense_Mutation_p.D1025H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D1032H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D1091H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D1032H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1025					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTCCACATCAATCTTCAGA	0.413										HNSCC(10;0.0054)			6	89					0	0	0	0	G	152772295	C	G	152772295	3	3	216	1	0	0	0	0	1	0	0	0	15536	826	29	2	23877	2	SYNE1	6	152772295	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	20571225	152772295	18342772	69	38446											
ARID1B	57492	broad.mit.edu	37	chr6	157256619	157256619	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacatgtctcaggaaggctAtggaactagatctcaacctc	12	9	10	10	0	2	1	2	0	2	1	5	4	2	4	1	4	2	1	1	4	5	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:157256619A>G	ENST00000346085.5	+	5	1947	c.1946A>G	c.(1945-1947)tAt>tGt	p.Y649C	ARID1B_ENST00000350026.5_Missense_Mutation_p.Y636C|ARID1B_ENST00000275248.4_Missense_Mutation_p.Y578C|ARID1B_ENST00000367148.1_Missense_Mutation_p.Y636C	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	636					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGGAAGGCTATGGAACTAGA	0.363													13	92					0	0	0	0	G	157256619	A	G	157256619	3	3	216	1	0	0	0	0	1	0	0	0	916	449	16	5	1964	5	ARID1B	6	157256619	Missense_Mutation	SNP	A	TCGA-CR-7394-01A-11D-2012-08	4484324	157256619	13858448	70	38447											
MEOX2	4223	broad.mit.edu	37	chr7	15725557	15725557	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttcgcttctccgcctcCgcaggtgacagtgcctggcg	3	9	12	17	5	1	1	0	1	1	0	4	1	2	1	5	2	1	3	5	2	0	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:15725557C>T	ENST00000262041.5	-	1	880	c.471G>A	c.(469-471)gcG>gcA	p.A157A		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	157					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TCTCCGCCTCCGCAGGTGACA	0.711													15	200					0	0	0	0	T	15725557	C	T	15725557	2	4	216	1	0	0	0	0	0	0	0	1	9543	639	23	1		1	MEOX2	7	15725557	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08		15725557	143413106	71	38448											
DDC	1644	broad.mit.edu	37	chr7	50534944	50534944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacaagccccagaatgaCttccacacagatttcaaagc	15	6	7	13	0	1	4	1	1	0	3	2	4	2	4	3	0	2	1	3	0	3	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:50534944C>T	ENST00000444124.2	-	13	1410	c.1210G>A	c.(1210-1212)Gtc>Atc	p.V404I	DDC_ENST00000431062.1_Missense_Mutation_p.V311I|DDC_ENST00000426377.1_Missense_Mutation_p.V326I|DDC_ENST00000357936.5_Missense_Mutation_p.V404I	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	404					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCCAGAATGACTTCCACACAG	0.448													20	128					0	0	0	0	T	50534944	C	T	50534944	3	4	216	1	0	0	0	0	1	0	0	0	4357	565	20	4	240	4	DDC	7	50534944	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	34809387	50534944	108603719	72	38449											
ZNF107	51427	broad.mit.edu	37	chr7	64168431	64168431	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaacctctacaaatttgaAgaacatggaaaagcttttaa	18	10	7	6	0	1	3	0	1	1	2	1	5	1	4	1	1	4	1	1	1	8	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:64168431A>G	ENST00000395391.1	+	4	3124	c.1749A>G	c.(1747-1749)gaA>gaG	p.E583E	ZNF107_ENST00000423627.1_Silent_p.E583E|ZNF107_ENST00000344930.3_Silent_p.E583E			Q9UII5	ZN107_HUMAN	zinc finger protein 107	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACAAATTTGAAGAACATGGAA	0.338													3	77					0	0	0	0	G	64168431	A	G	64168431	2	3	216	1	0	0	0	0	0	0	0	1	17810	69	3	5		5	ZNF107	7	64168431	Silent	SNP	A	TCGA-CR-7394-01A-11D-2012-08	13633487	64168431	94970232	73	38450											
AP4M1	9179	broad.mit.edu	37	chr7	99701070	99701070	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacatccacggagatgctGaggaatttcatccagacgga	13	7	10	11	2	1	3	1	1	0	2	3	6	3	5	3	3	1	1	3	3	1	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:99701070G>A	ENST00000429084.1	+	5	569	c.411G>A	c.(409-411)ctG>ctA	p.L137L	AP4M1_ENST00000422582.1_Silent_p.L2L|AP4M1_ENST00000359593.4_Silent_p.L130L|AP4M1_ENST00000421755.1_Silent_p.L130L			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	130					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGAGATGCTGAGGAATTTCA	0.537													8	70					0	0	0	0	A	99701070	G	A	99701070	2	1	216	1	0	0	0	0	0	0	0	1	754	1277	45	2		2	AP4M1	7	99701070	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	35532639	99701070	59437593	74	38451											
FAM71F1	84691	broad.mit.edu	37	chr7	128356921	128356921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttccaacaccatggccCtgggggtgacctcctcggta	8	8	11	14	1	0	1	0	1	0	0	3	1	2	1	5	4	2	2	5	4	3	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:128356921C>T	ENST00000485070.1	+	3	412	c.68C>T	c.(67-69)cCt>cTt	p.P23L	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000315184.5_Silent_p.L102L			Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	10										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CACCATGGCCCTGGGGGTGAC	0.577													6	32					0	0	0	0	T	128356921	C	T	128356921	3	4	216	1	0	0	0	0	1	0	0	0	5658	680	24	4	310	4	FAM71F1	7	128356921	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	28655851	128356921	30781742	75	38452											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138455987	138455987	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgcttcgaaacacagaCaccatcttggcccagcctcg	9	8	7	17	3	1	1	0	0	1	1	5	2	2	1	4	1	2	1	4	1	1	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:138455987C>T	ENST00000310018.2	-	3	288	c.6G>A	c.(4-6)gtG>gtA	p.V2V	ATP6V0A4_ENST00000393054.1_Silent_p.V2V|ATP6V0A4_ENST00000353492.4_Silent_p.V2V|ATP6V0A4_ENST00000483139.1_5'UTR	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	2			V -> A (in dbSNP:rs10258719).		cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GAAACACAGACACCATCTTGG	0.423													13	154					0	0	0	0	T	138455987	C	T	138455987	2	4	216	1	0	0	0	0	0	0	0	1	1174	465	17	4		4	ATP6V0A4	7	138455987	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	10099066	138455987	20682676	76	38453											
CUL1	8454	broad.mit.edu	37	chr7	148487477	148487477	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaattgacgtggttatatCagttgtctaaaggagaattg	14	13	11	3	1	2	2	1	1	1	1	2	4	2	2	0	2	0	2	0	2	7	6			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:148487477C>T	ENST00000325222.4	+	16	2029	c.1750C>T	c.(1750-1752)Cag>Tag	p.Q584*	CUL1_ENST00000602748.1_Nonsense_Mutation_p.Q584*|CUL1_ENST00000409469.1_Nonsense_Mutation_p.Q584*	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	584					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GTGGTTATATCAGTTGTCTAA	0.358													5	59					0	0	0	0	T	148487477	C	T	148487477	4	4	216	1	0	0	0	0	0	1	0	0	4086	827	29	2	1808	2	CUL1	7	148487477	Nonsense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	10031490	148487477	10651186	77	38454											
STMN4	81551	broad.mit.edu	37	chr8	27099205	27099205	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctcctaccctgagctcttCtttctctccagtcagcactg	5	13	5	18	0	4	1	1	1	3	0	7	1	6	1	4	0	3	2	4	0	1	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:27099205C>G	ENST00000350889.4	-	4	292	c.179G>C	c.(178-180)aGa>aCa	p.R60T	STMN4_ENST00000519997.1_Intron|STMN4_ENST00000265770.7_Intron|STMN4_ENST00000522908.1_Missense_Mutation_p.R60T|STMN4_ENST00000519614.1_Intron|STMN4_ENST00000523048.1_Missense_Mutation_p.R60T	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	36					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		CTGAGCTCTTCTTTCTCTCCA	0.612													3	101					0	0	0	0	G	27099205	C	G	27099205	3	3	216	1	0	0	0	0	1	0	0	0	15401	913	32	2	487	2	STMN4	8	27099205	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08		27099205	119264817	78	38455											
EXTL3	2137	broad.mit.edu	37	chr8	28573933	28573933	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatcgaagcctgtaagaaGagcattgagaacgccaagca	17	5	11	8	2	0	4	0	1	0	4	1	6	0	4	2	0	4	3	2	0	6	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:28573933G>C	ENST00000220562.4	+	3	1259	c.357G>C	c.(355-357)aaG>aaC	p.K119N	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	119						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCTGTAAGAAGAGCATTGAGA	0.562													8	24					0	0	0	0	C	28573933	G	C	28573933	3	2	216	1	0	0	0	0	1	0	0	0	5365	933	33	2	359	2	EXTL3	8	28573933	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	1474728	28573933	117790089	79	38456											
RP1	6101	broad.mit.edu	37	chr8	55542326	55542326	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacccatatttacttcagAcagacaaaaatgtgttcagg	15	11	6	9	0	2	2	2	0	0	2	2	2	2	2	1	1	2	1	1	1	5	6			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:55542326A>G	ENST00000220676.1	+	4	6032	c.5884A>G	c.(5884-5886)Aca>Gca	p.T1962A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1962					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTACTTCAGACAGACAAAAA	0.318													5	44					0	0	0	0	G	55542326	A	G	55542326	3	3	216	1	0	0	0	0	1	0	0	0	13617	275	10	5	5894	5	RP1	8	55542326	Missense_Mutation	SNP	A	TCGA-CR-7394-01A-11D-2012-08	26968393	55542326	90821696	80	38457											
CSMD3	114788	broad.mit.edu	37	chr8	113662457	113662457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaggggctcttcatgactCaacctgtatcctgaatcaca	12	10	8	11	0	4	3	3	2	1	1	5	3	5	3	2	2	1	2	2	2	4	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:113662457C>G	ENST00000297405.5	-	19	3370	c.3126G>C	c.(3124-3126)ttG>ttC	p.L1042F	CSMD3_ENST00000455883.2_Missense_Mutation_p.L938F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1002F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L1042F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1042	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTCATGACTCAACCTGTATC	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	108					0	0	0	0	G	113662457	C	G	113662457	3	3	216	1	0	0	0	0	1	0	0	0	3978	825	29	2	8209	2	CSMD3	8	113662457	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	58120131	113662457	32701565	81	38458											
ZNF251	90987	broad.mit.edu	37	chr8	145947129	145947129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacacgagtctgctgaggtGgtgtgagctgtgaactctgg	8	10	15	8	1	2	3	0	3	2	0	2	4	2	3	0	3	4	2	0	3	2	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:145947129G>A	ENST00000292562.7	-	5	2191	c.1916C>T	c.(1915-1917)cCa>cTa	p.P639L	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTGCTGAGGTGGTGTGAGCTG	0.403													8	51					0	0	0	0	A	145947129	G	A	145947129	3	1	216	1	0	0	0	0	1	0	0	0	17891	1348	47	4	103	4	ZNF251	8	145947129	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	32284672	145947129	416893	82	38459											
CDKN2A	1029	broad.mit.edu	37	chr9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtccacgggcagacggccCcaggcatcgcgcacgtccag	8	3	14	16	5	0	1	0	0	0	1	3	1	2	1	4	4	0	3	4	4	0	0	rs121913389		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	33					0	0	0	0	T	21971028	C	T	21971028	4	4	216	1	0	0	0	0	0	1	0	0	3190	624	22	4	148	4	CDKN2A	9	21971028	Nonsense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08		21971028	119242403	83	38460											
GALT	2592	broad.mit.edu	37	chr9	34647693	34647693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttccaagcaaagtctgctcGaggagtctggtaactatgga	11	11	11	8	1	2	0	0	0	2	0	4	3	3	2	1	3	3	3	1	3	4	3	rs111033675		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:34647693G>C	ENST00000378842.3	+	4	410	c.368G>C	c.(367-369)cGa>cCa	p.R123P	GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Intron	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	123			R -> G (in GALCT).|R -> Q (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AAGTCTGCTCGAGGAGTCTGG	0.532									Galactosemia				5	48					0	0	0	0	C	34647693	G	C	34647693	3	2	216	1	0	0	0	0	1	0	0	0	6279	1058	37	3	382	3	GALT	9	34647693	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	12676665	34647693	106565738	84	38461											
CEP78	84131	broad.mit.edu	37	chr9	80858414	80858414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatgaagaaacctgggctGagagtcttcgctataggaga	12	8	14	7	1	1	4	0	2	1	3	2	6	1	4	1	3	1	3	1	3	4	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:80858414G>A	ENST00000424347.2	+	5	929	c.640G>A	c.(640-642)Gag>Aag	p.E214K	CEP78_ENST00000376597.4_Missense_Mutation_p.E214K|CEP78_ENST00000415759.2_Missense_Mutation_p.E214K|CEP78_ENST00000376598.2_Missense_Mutation_p.E214K|CEP78_ENST00000277082.5_Missense_Mutation_p.E214K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	214					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AACCTGGGCTGAGAGTCTTCG	0.403													7	49					0	0	0	0	A	80858414	G	A	80858414	3	1	216	1	0	0	0	0	1	0	0	0	3291	1291	45	2	658	2	CEP78	9	80858414	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	46210721	80858414	60355017	85	38462											
IARS	3376	broad.mit.edu	37	chr9	95013063	95013063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaacagaaacagggtcaatCagcacctttagattctggta	14	10	9	8	0	3	3	2	1	1	2	3	3	3	3	1	2	3	2	1	2	5	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:95013063C>T	ENST00000375643.3	-	23	2627	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L	IARS_ENST00000443024.2_Silent_p.L787L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Silent_p.L677L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	787					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CAGGGTCAATCAGCACCTTTA	0.453													5	23					0	0	0	0	T	95013063	C	T	95013063	2	4	216	1	0	0	0	0	0	0	0	1	7526	813	29	2		2	IARS	9	95013063	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	14154649	95013063	46200368	86	38463											
ASPN	54829	broad.mit.edu	37	chr9	95219641	95219641	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaatgttgcaggttgcatttCccagtatttcaccgggttgt	8	15	10	8	1	1	0	1	0	0	0	2	0	2	0	2	2	2	6	2	2	2	6			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:95219641C>G	ENST00000375544.3	-	8	1315	c.1072G>C	c.(1072-1074)Gaa>Caa	p.E358Q	ASPN_ENST00000375543.1_3'UTR|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	358					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTTGCATTTCCCAGTATTTC	0.373													6	46					0	0	0	0	G	95219641	C	G	95219641	3	3	216	1	0	0	0	0	1	0	0	0	1061	864	30	2	74	2	ASPN	9	95219641	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	206578	95219641	45993790	87	38464											
PTCH1	5727	broad.mit.edu	37	chr9	98268846	98268846	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtctctgaaacttcgctctCagccacagcggcgctttccg	7	10	9	15	4	2	1	1	1	2	0	6	1	3	1	2	1	3	2	2	1	1	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:98268846C>G	ENST00000430669.2	-	2	624	c.39G>C	c.(37-39)ctG>ctC	p.L13L	PTCH1_ENST00000418258.1_5'UTR|PTCH1_ENST00000375274.2_Silent_p.L78L|PTCH1_ENST00000468211.2_Silent_p.L13L|PTCH1_ENST00000331920.6_Silent_p.L79L|PTCH1_ENST00000429896.2_5'UTR|RP11-435O5.5_ENST00000604104.1_RNA|PTCH1_ENST00000421141.1_5'UTR|PTCH1_ENST00000437951.1_Silent_p.L13L			Q13635	PTC1_HUMAN	patched 1	79					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACTTCGCTCTCAGCCACAGCG	0.592													4	40					0	0	0	0	G	98268846	C	G	98268846	2	3	216	1	0	0	0	0	0	0	0	1	12809	813	29	2		2	PTCH1	9	98268846	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	3049205	98268846	42944585	88	38465											
OR1J2	26740	broad.mit.edu	37	chr9	125273592	125273592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgtctttctgtgctgCgaacaccatcccccatgtct	5	12	8	16	2	3	0	0	0	3	0	4	1	4	0	4	1	3	2	4	1	1	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:125273592C>T	ENST00000335302.5	+	1	512	c.512C>T	c.(511-513)gCg>gTg	p.A171V		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TTCTGTGCTGCGAACACCATC	0.532													18	136					0	0	0	0	T	125273592	C	T	125273592	3	4	216	1	0	0	0	0	1	0	0	0	11031	768	27	1	514	1	OR1J2	9	125273592	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	27004746	125273592	15939839	89	38466											
RXRA	6256	broad.mit.edu	37	chr9	137328333	137328333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgctaagctcttgctccGcctgccggctctgcgctcca	3	11	10	17	4	2	0	0	0	2	0	5	0	4	0	4	1	4	6	4	1	1	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:137328333G>A	ENST00000540193.1	+	9	1894	c.971G>A	c.(970-972)cGc>cAc	p.R324H	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.R421H			P19793	RXRA_HUMAN	retinoid X receptor, alpha	421	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CTCTTGCTCCGCCTGCCGGCT	0.607													9	110					0	0	0	0	A	137328333	G	A	137328333	3	1	216	1	0	0	0	0	1	0	0	0	13848	1087	38	1	1300	1	RXRA	9	137328333	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	12054741	137328333	3885098	90	38467											
NOTCH1	4851	broad.mit.edu	37	chr9	139395018	139395018	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacctggaagacaccttGtgcgtcggcagacacagccg	9	6	12	14	3	0	2	0	0	0	2	1	3	0	3	4	2	3	1	4	2	2	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:139395018G>A	ENST00000277541.6	-	31	5995	c.5920C>T	c.(5920-5922)Caa>Taa	p.Q1974*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1974					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AAGACACCTTGTGCGTCGGCA	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			21	105					0	0	0	0	A	139395018	G	A	139395018	4	1	216	1	0	0	0	0	0	1	0	0	10617	1386	48	4	1763	4	NOTCH1	9	139395018	Nonsense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	2066685	139395018	1818413	91	38468											
CACNA1B	774	broad.mit.edu	37	chr9	140946543	140946543	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtggcttctcccttctaGaggatccaaagggaaagaca	11	10	10	10	0	3	2	0	0	3	2	5	4	4	4	2	3	0	1	2	3	3	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:140946543G>A	ENST00000277549.5	+	26	3867		c.e26-1		CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000371357.1_Splice_Site|CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site|CACNA1B_ENST00000371372.1_Splice_Site			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTCCCTTCTAGAGGATCCAAA	0.572													7	11					0	0	0	0	A	140946543	G	A	140946543	5	1	216	1	0	0	0	0	0	0	1	0	2564	956	33	2	3808	2	CACNA1B	9	140946543	Splice_Site	SNP	G	TCGA-CR-7394-01A-11D-2012-08	1551525	140946543	266888	92	38469											
GTPBP4	23560	broad.mit.edu	37	chr10	1061734	1061734	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagatcccggagcatcacTaggaaaagaaagcgggaaga	18	3	13	7	2	1	4	1	0	0	4	2	7	2	7	1	3	2	1	1	3	6	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:1061734T>C	ENST00000360803.4	+	16	1732	c.1650T>C	c.(1648-1650)acT>acC	p.T550T	GTPBP4_ENST00000545048.1_Silent_p.T503T|GTPBP4_ENST00000538293.1_Silent_p.T434T	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	550					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GGAGCATCACTAGGAAAAGAA	0.587													10	93					0	0	0	0	C	1061734	T	C	1061734	2	2	216	1	0	0	0	0	0	0	0	1	6932	1509	53	5		5	GTPBP4	10	1061734	Silent	SNP	T	TCGA-CR-7394-01A-11D-2012-08		1061734	134473013	93	38470											
USP6NL	9712	broad.mit.edu	37	chr10	11567452	11567452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttcccaaggttcaatctCtgcaccttctcgtccctaaa	9	13	4	15	1	4	0	1	0	3	0	8	0	6	0	3	1	1	2	3	1	4	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:11567452C>T	ENST00000379237.1	-	4	482	c.88G>A	c.(88-90)Gag>Aag	p.E30K	USP6NL_ENST00000277575.5_Missense_Mutation_p.E47K	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	30						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GGTTCAATCTCTGCACCTTCT	0.328													9	67					0	0	0	0	T	11567452	C	T	11567452	3	4	216	1	0	0	0	0	1	0	0	0	17183	922	32	2	2446	2	USP6NL	10	11567452	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	10505718	11567452	123967295	94	38471											
CUBN	8029	broad.mit.edu	37	chr10	16994286	16994286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttacttacatggaggttgcGcttgaatgatccagctgcag	9	12	12	8	1	0	2	0	2	0	0	1	3	1	3	1	2	5	5	1	2	3	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:16994286G>A	ENST00000377833.4	-	33	5023	c.4958C>T	c.(4957-4959)gCg>gTg	p.A1653V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1653	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGAGGTTGCGCTTGAATGAT	0.458													10	91					0	0	0	0	A	16994286	G	A	16994286	3	1	216	1	0	0	0	0	1	0	0	0	4083	1087	38	1	6053	1	CUBN	10	16994286	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	5426834	16994286	118540461	95	38472											
BMI1	648	broad.mit.edu	37	chr10	22618452	22618452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatcagtaaatgggtcatCagcaacttcttctggttgat	11	14	8	8	0	6	1	4	1	2	0	6	1	6	1	0	2	2	3	0	2	3	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:22618452C>T	ENST00000376663.3	+	10	1467	c.962C>T	c.(961-963)tCa>tTa	p.S321L	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.S464L	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						AATGGGTCATCAGCAACTTCT	0.393													8	79					0	0	0	0	T	22618452	C	T	22618452	3	4	216	1	0	0	0	0	1	0	0	0	1460	838	29	2	996	2	BMI1	10	22618452	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	5624166	22618452	112916295	96	38473											
KIF5B	3799	broad.mit.edu	37	chr10	32329358	32329358	+	Missense_Mutation	SNP	A	A	T																															atgtttgtccatatgcaaatAttgttccattatatccttca																										TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:32329358A>T	ENST00000302418.4	-	3	699	c.242T>A	c.(241-243)aTa>aAa	p.I81K		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	81	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				ATATGCAAATATTGTTCCATT	0.328			T	"RET, ALK"	NSCLC								5	34					0	0	0	0	T	32329358	A	T	32329358	3	4	216	1	0	0	0	0	1	0	0	0	8357	449	16	5	2741	5	KIF5B	10	32329358	Missense_Mutation	SNP	A	TCGA-CR-7394-01A-11D-2012-08	9710906	32329358	103205389	97	38474	290	3									
KIF5B	3799	broad.mit.edu	37	chr10	32329359	32329359	+	Missense_Mutation	SNP	T	T	A																															tgtttgtccatatgcaaataTtgttccattatatccttcaa																										TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:32329359T>A	ENST00000302418.4	-	3	698	c.241A>T	c.(241-243)Ata>Tta	p.I81L		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	81	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TATGCAAATATTGTTCCATTA	0.333			T	"RET, ALK"	NSCLC								4	34					0	0	0	0	A	32329359	T	A	32329359	3	1	216	1	0	0	0	0	1	0	0	0	8357	1493	52	5	2742	5	KIF5B	10	32329359	Missense_Mutation	SNP	T	TCGA-CR-7394-01A-11D-2012-08	1	32329359	103205388	98	38475	290	3									
KIF5B	3799	broad.mit.edu	37	chr10	32329361	32329361	+	Missense_Mutation	SNP	G	G	A																															tttgtccatatgcaaatattGttccattatatccttcaagt																										TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:32329361G>A	ENST00000302418.4	-	3	696	c.239C>T	c.(238-240)aCa>aTa	p.T80I		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	80	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGCAAATATTGTTCCATTATA	0.333			T	"RET, ALK"	NSCLC								4	34					0	0	0	0	A	32329361	G	A	32329361	3	1	216	1	0	0	0	0	1	0	0	0	8357	1377	48	4	2744	4	KIF5B	10	32329361	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	2	32329361	103205386	99	38476	290	3									
RBP3	5949	broad.mit.edu	37	chr10	48387946	48387946	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatctcggctagggccacttCtgaggtcaccctggagtagc	7	9	13	12	1	3	1	1	1	2	0	4	3	3	2	2	4	1	2	2	4	2	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:48387946C>G	ENST00000224600.4	-	1	3045	c.2932G>C	c.(2932-2934)Gaa>Caa	p.E978Q		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	978	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGGCCACTTCTGAGGTCACC	0.617													6	91					0	0	0	0	G	48387946	C	G	48387946	3	3	216	1	0	0	0	0	1	0	0	0	13239	922	32	2	827	2	RBP3	10	48387946	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	16058585	48387946	87146801	100	38477											
RBP3	5949	broad.mit.edu	37	chr10	48388901	48388901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccgcaggagggcactggtCtgccccacgacctctggccg	5	5	14	17	3	2	0	0	0	2	0	2	2	2	1	5	4	1	2	5	4	0	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:48388901C>G	ENST00000224600.4	-	1	2090	c.1977G>C	c.(1975-1977)caG>caC	p.Q659H		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	659	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGCACTGGTCTGCCCCACGA	0.672													4	37					0	0	0	0	G	48388901	C	G	48388901	3	3	216	1	0	0	0	0	1	0	0	0	13239	912	32	2	1782	2	RBP3	10	48388901	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	955	48388901	87145846	101	38478											
GDF2	2658	broad.mit.edu	37	chr10	48414224	48414224	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggtggagtcggaccggAcccagcgcttcacggcgctg	5	8	15	13	5	2	0	1	0	1	0	3	3	2	3	2	5	1	2	2	5	0	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:48414224A>G	ENST00000249598.1	-	2	803	c.644T>C	c.(643-645)gTc>gCc	p.V215A		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	215					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTCGGACCGGACCCAGCGCTT	0.587													9	103					0	0	0	0	G	48414224	A	G	48414224	3	3	216	1	0	0	0	0	1	0	0	0	6365	275	10	5	649	5	GDF2	10	48414224	Missense_Mutation	SNP	A	TCGA-CR-7394-01A-11D-2012-08	25323	48414224	87120523	102	38479											
OGDHL	55753	broad.mit.edu	37	chr10	50952758	50952758	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttatccttggacctgccaTaagcctcctcacagatccgg	8	12	7	14	1	1	1	1	0	0	1	4	2	4	2	6	2	2	0	6	2	2	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:50952758T>C	ENST00000374103.4	-	13	1755	c.1670A>G	c.(1669-1671)tAt>tGt	p.Y557C	OGDHL_ENST00000419399.1_Missense_Mutation_p.Y500C|OGDHL_ENST00000432695.1_Missense_Mutation_p.Y348C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	557					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGACCTGCCATAAGCCTCCTC	0.547													6	56					0	0	0	0	C	50952758	T	C	50952758	3	2	216	1	0	0	0	0	1	0	0	0	10911	1406	49	5	1406	5	OGDHL	10	50952758	Missense_Mutation	SNP	T	TCGA-CR-7394-01A-11D-2012-08	2538534	50952758	84581989	103	38480											
BLOC1S2	282991	broad.mit.edu	37	chr10	102039977	102039977	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatccagataaggctgcaGtccagcatctttaaaaacaa	15	9	7	10	0	1	2	0	1	1	1	3	2	3	2	2	1	3	3	2	1	5	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:102039977G>A	ENST00000441611.1	-	3	389	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	BLOC1S2_ENST00000370372.2_Silent_p.L101L			Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	101					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		TAAGGCTGCAGTCCAGCATCT	0.363													3	59					0	0	0	0	A	102039977	G	A	102039977	2	1	216	1	0	0	0	0	0	0	0	1	1454	1020	36	4		4	BLOC1S2	10	102039977	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	51087219	102039977	33494770	104	38481											
NFKB2	4791	broad.mit.edu	37	chr10	104157126	104157126	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactatgatacaaaaacttCagaggcagcggctccgctct	12	8	10	11	2	2	2	1	1	1	1	3	3	3	3	1	3	3	3	1	3	4	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:104157126C>T	ENST00000369966.3	+	7	713	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	NFKB2_ENST00000189444.6_Nonsense_Mutation_p.Q155*|NFKB2_ENST00000428099.1_Nonsense_Mutation_p.Q155*	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	155	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		ACAAAAACTTCAGAGGCAGCG	0.572			T	IGH@	B-NHL								4	121					0	0	0	0	T	104157126	C	T	104157126	4	4	216	1	0	0	0	0	0	1	0	0	10446	827	29	2	485	2	NFKB2	10	104157126	Nonsense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	2117149	104157126	31377621	105	38482											
PSD	5662	broad.mit.edu	37	chr10	104163637	104163637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccttctgccgctgctcttCagcctccttgccccggccct	1	12	7	21	2	3	0	1	0	2	0	5	0	5	0	7	1	4	2	7	1	0	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:104163637C>T	ENST00000020673.5	-	16	3332	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	PSD_ENST00000406432.1_Missense_Mutation_p.E936K	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	936					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CGCTGCTCTTCAGCCTCCTTG	0.662													4	17					0	0	0	0	T	104163637	C	T	104163637	3	4	216	1	0	0	0	0	1	0	0	0	12725	835	29	2	276	2	PSD	10	104163637	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	6511	104163637	31371110	106	38483											
CUZD1	50624	broad.mit.edu	37	chr10	124596554	124596554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaaatttgcactgtttgtCtatttctaggctagagaatg	11	16	8	6	0	3	1	1	0	2	1	3	2	3	1	0	1	1	3	0	1	5	6			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:124596554C>T	ENST00000368904.1	-	7	1559	c.610G>A	c.(610-612)Gac>Aac	p.D204N	CUZD1_ENST00000545804.1_Missense_Mutation_p.D204N|CUZD1_ENST00000392790.1_Missense_Mutation_p.D204N			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	204	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CACTGTTTGTCTATTTCTAGG	0.428													10	20					0	0	0	0	T	124596554	C	T	124596554	3	4	216	1	0	0	0	0	1	0	0	0	4098	913	32	2	1233	2	CUZD1	10	124596554	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	20432917	124596554	10938193	107	38484											
GPR26	2849	broad.mit.edu	37	chr10	125426416	125426416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgcagccggcggccagacGagcgcctgcgcttcgccgtc	4	6	15	16	7	0	1	0	0	0	1	2	2	0	1	4	2	4	2	4	2	0	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:125426416G>A	ENST00000284674.1	+	1	546	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	165					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGGCCAGACGAGCGCCTGCG	0.677													6	23					0	0	0	0	A	125426416	G	A	125426416	3	1	216	1	0	0	0	0	1	0	0	0	6733	1059	37	1	495	1	GPR26	10	125426416	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	829862	125426416	10108331	108	38485											
PTPRE	5791	broad.mit.edu	37	chr10	129839247	129839247	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacagcaacgagacaaccacGacctcaggtaaggacccctt	14	4	9	14	2	1	1	1	0	0	1	1	5	1	2	4	2	3	2	4	2	3	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:129839247G>A	ENST00000254667.3	+	3	381	c.102G>A	c.(100-102)acG>acA	p.T34T	PTPRE_ENST00000471218.1_Silent_p.T34T|PTPRE_ENST00000430713.2_Silent_p.T34T|PTPRE_ENST00000419012.2_Silent_p.T34T	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	34					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AGACAACCACGACCTCAGGTA	0.592													3	28					0	0	0	0	A	129839247	G	A	129839247	2	1	216	1	0	0	0	0	0	0	0	1	12882	1045	37	1		1	PTPRE	10	129839247	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	4412831	129839247	5695500	109	38486											
MKI67	4288	broad.mit.edu	37	chr10	129914118	129914118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattacgtccagcatgttctGaggaatgaacattagttgtt	11	14	9	7	1	1	2	0	2	1	0	2	3	2	3	1	1	3	4	1	1	4	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:129914118G>A	ENST00000368654.3	-	7	929	c.554C>T	c.(553-555)tCa>tTa	p.S185L	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	185					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGCATGTTCTGAGGAATGAAC	0.413													17	104					0	0	0	0	A	129914118	G	A	129914118	3	1	216	1	0	0	0	0	1	0	0	0	9667	1294	45	2	9252	2	MKI67	10	129914118	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	74871	129914118	5620629	110	38487											
HRAS	3265	broad.mit.edu	37	chr11	534289	534289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactcttgcccacaccgcCggcgcccaccaccaccagct	7	4	7	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	2	7	1	0	1	rs104894229		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:534289C>T	ENST00000417302.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			5	41					0	0	0	0	T	534289	C	T	534289	3	4	216	1	0	0	0	0	1	0	0	0	7398	652	23	1	618	1	HRAS	11	534289	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08		534289	134472227	111	38488											
TNNI2	7136	broad.mit.edu	37	chr11	1862066	1862066	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggagctctgcaaacagctGcacgccaagatcgatgcggc	11	6	12	12	3	1	1	0	0	1	1	2	3	1	2	1	2	6	4	1	2	3	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:1862066G>A	ENST00000381906.1	+	6	273	c.204G>A	c.(202-204)ctG>ctA	p.L68L	TNNI2_ENST00000381911.1_Silent_p.L68L|TNNI2_ENST00000381905.3_Silent_p.L68L|TNNI2_ENST00000252898.7_Silent_p.L68L	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	68					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAAACAGCTGCACGCCAAGA	0.672													4	28					0	0	0	0	A	1862066	G	A	1862066	2	1	216	1	0	0	0	0	0	0	0	1	16421	1306	46	4		4	TNNI2	11	1862066	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	1327777	1862066	133144450	112	38489											
OR51A4	401666	broad.mit.edu	37	chr11	4967899	4967899	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagaatactatccctatttgGgcaactctgacagttgtcag	11	12	9	9	0	2	2	1	1	1	1	3	3	3	2	1	1	2	2	1	1	5	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:4967899G>A	ENST00000380373.2	-	1	457	c.432C>T	c.(430-432)gcC>gcT	p.A144A	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCTATTTGGGCAACTCTGA	0.428													32	179					0	0	0	0	A	4967899	G	A	4967899	2	1	216	1	0	0	0	0	0	0	0	1	11158	1219	43	4		4	OR51A4	11	4967899	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	3105833	4967899	130038617	113	38490											
OR51B2	79345	broad.mit.edu	37	chr11	5344774	5344774	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatgtcaaacccatcactgTaacatagaagataagaacac	19	7	6	9	0	2	3	2	0	0	3	2	4	2	3	1	0	3	1	1	0	7	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:5344774T>C	ENST00000328813.2	-	1	808	c.754A>G	c.(754-756)Aca>Gca	p.T252A	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCATCACTGTAACATAGAAG	0.388													3	42					0	0	0	0	C	5344774	T	C	5344774	3	2	216	1	0	0	0	0	1	0	0	0	11160	1638	57	5	188	5	OR51B2	11	5344774	Missense_Mutation	SNP	T	TCGA-CR-7394-01A-11D-2012-08	376875	5344774	129661742	114	38491											
GYLTL1B	120071	broad.mit.edu	37	chr11	45950273	45950273	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttccgctccagccccacCtatcgtgactgcctccaggc	5	8	8	20	3	0	1	0	1	0	0	4	1	3	1	7	1	2	2	7	1	1	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:45950273C>G	ENST00000531526.1	+	14	2154	c.2043C>G	c.(2041-2043)acC>acG	p.T681T	GYLTL1B_ENST00000401752.1_Silent_p.T681T|GYLTL1B_ENST00000325468.5_Silent_p.T681T|GYLTL1B_ENST00000529052.1_Silent_p.T650T|GYLTL1B_ENST00000536139.1_Silent_p.T650T	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	681					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCAGCCCCACCTATCGTGACT	0.637													8	115					0	0	0	0	G	45950273	C	G	45950273	2	3	216	1	0	0	0	0	0	0	0	1	6957	668	24	4		4	GYLTL1B	11	45950273	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	40605499	45950273	89056243	115	38492											
MADD	8567	broad.mit.edu	37	chr11	47317523	47317523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtgatggaccaggtggcGagggcagtgttcacctggca	8	7	17	9	1	1	1	1	1	0	0	1	3	1	2	2	6	0	3	2	6	0	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:47317523G>A	ENST00000342922.4	+	22	3919	c.3562G>A	c.(3562-3564)Gag>Aag	p.E1188K	MADD_ENST00000406482.1_Missense_Mutation_p.E1145K|MADD_ENST00000405573.2_Missense_Mutation_p.E36K|MADD_ENST00000407859.3_Missense_Mutation_p.E1165K|MADD_ENST00000395336.3_Missense_Mutation_p.E1226K|MADD_ENST00000395344.3_Missense_Mutation_p.E1141K|MADD_ENST00000402799.1_Missense_Mutation_p.E1145K|MADD_ENST00000349238.3_Missense_Mutation_p.E1208K|MADD_ENST00000311027.5_Missense_Mutation_p.E1226K|MADD_ENST00000402192.2_Missense_Mutation_p.E1187K	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1226	Ser-rich.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ACCAGGTGGCGAGGGCAGTGT	0.483													16	114					0	0	0	0	A	47317523	G	A	47317523	3	1	216	1	0	0	0	0	1	0	0	0	9217	1059	37	1	3766	1	MADD	11	47317523	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	1367250	47317523	87688993	116	38493											
B3GAT3	26229	broad.mit.edu	37	chr11	62389338	62389338	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccccgccccgctcacCgagctgtaccagcgcgtaga	6	4	10	21	6	1	1	1	0	0	1	1	2	1	1	8	0	3	4	8	0	2	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:62389338C>T	ENST00000531383.1	-	1	288	c.82_splice	c.e1+1	p.G28_splice	B3GAT3_ENST00000265471.5_Splice_Site_p.G28_splice|B3GAT3_ENST00000534026.1_Splice_Site_p.G28_splice			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	28					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						ccccgcTCACCGAGCTGTACC	0.716													3	37					0	0	0	0	T	62389338	C	T	62389338	5	4	216	1	0	0	0	0	0	0	1	0	1259	666	23	1	945	1	B3GAT3	11	62389338	Splice_Site	SNP	C	TCGA-CR-7394-01A-11D-2012-08	15071815	62389338	72617178	117	38494											
BSCL2	26580	broad.mit.edu	37	chr11	62457987	62457987	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagctgcatcttcccaggagCctgaacctgggccaggaaag	11	6	12	12	0	1	1	0	1	1	0	2	3	2	3	4	3	4	2	4	3	3	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:62457987C>A	ENST00000433053.1	-	12	1797	c.1241G>T	c.(1240-1242)gGc>gTc	p.G414V	BSCL2_ENST00000421906.1_Missense_Mutation_p.G350V|BSCL2_ENST00000360796.5_Missense_Mutation_p.G414V|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.G350V|BSCL2_ENST00000278893.7_3'UTR|BSCL2_ENST00000405837.1_Missense_Mutation_p.G416V|BSCL2_ENST00000407022.3_Missense_Mutation_p.G350V			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	350					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TTCCCAGGAGCCTGAACCTGG	0.572													3	41					0.004672	0.00489898	1	0	A	62457987	C	A	62457987	3	1	216	1	0	0	0	0	1	0	0	0	1535	739	26	4	151	4	BSCL2	11	62457987	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	68649	62457987	72548529	118	38495											
PPP1R14B	26472	broad.mit.edu	37	chr11	64012227	64012227	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcctgggtcggggaccgtCacttcttctggggtgtgctc	2	13	14	12	2	4	0	1	0	3	0	7	1	4	1	2	5	1	1	2	5	0	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:64012227C>T	ENST00000309318.3	-	4	710	c.443G>A	c.(442-444)tGa>tAa	p.*148*	PPP1R14B_ENST00000392210.2_Silent_p.*46*|PPP1R14B_ENST00000542235.1_Silent_p.*73*	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	0					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			kidney(1)|lung(1)|pancreas(1)	3						CGGGGACCGTCACTTCTTCTG	0.617													5	47					0	0	0	0	T	64012227	C	T	64012227	2	4	216	1	0	0	0	0	0	0	0	1	12436	837	29	2		2	PPP1R14B	11	64012227	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	1554240	64012227	70994289	119	38496											
CCDC87	55231	broad.mit.edu	37	chr11	66358522	66358522	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtgctctagcacagtgttCcaatcccactctcctggcac	7	11	7	16	0	2	0	0	0	2	0	5	0	4	0	3	1	2	4	3	1	2	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:66358522C>T	ENST00000333861.3	-	1	2032	c.1965G>A	c.(1963-1965)tgG>tgA	p.W655*		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	655										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCACAGTGTTCCAATCCCACT	0.542													10	94					0	0	0	0	T	66358522	C	T	66358522	4	4	216	1	0	0	0	0	0	1	0	0	2889	856	30	2	588	2	CCDC87	11	66358522	Nonsense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	2346295	66358522	68647994	120	38497											
RBM4	5936	broad.mit.edu	37	chr11	66407347	66407347	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgccatacgcaacctGcaccattacaagcttcatgg	12	8	9	12	1	1	0	1	0	0	0	1	2	1	1	3	2	6	3	3	2	4	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:66407347G>A	ENST00000409406.1	+	1	942	c.165G>A	c.(163-165)ctG>ctA	p.L55L	RBM4_ENST00000530235.1_Silent_p.L55L|RBM4_ENST00000398692.4_Silent_p.L55L|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000532968.1_Silent_p.L55L|RBM4_ENST00000483858.1_Silent_p.L55L|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000396053.4_Silent_p.L55L|RBM4_ENST00000506523.2_Silent_p.L55L|RBM4_ENST00000578778.1_Silent_p.L55L|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000310092.7_Silent_p.L55L|RBM4_ENST00000408993.2_Silent_p.L55L|RBM4_ENST00000503028.2_Silent_p.L55L					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TACGCAACCTGCACCATTACA	0.478													20	168					0	0	0	0	A	66407347	G	A	66407347	2	1	216	1	0	0	0	0	0	0	0	1	13216	1306	46	4		4	RBM4	11	66407347	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	48825	66407347	68599169	121	38498											
ADRBK1	156	broad.mit.edu	37	chr11	67050604	67050604	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactcctctctaaaggccgtGgagctgcccgactccttctc	6	10	8	17	2	2	0	0	0	2	0	6	2	4	1	4	2	2	1	4	2	2	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:67050604G>A	ENST00000308595.5	+	15	1523	c.1233G>A	c.(1231-1233)gtG>gtA	p.V411V	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	411	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TAAAGGCCGTGGAGCTGCCCG	0.647													14	127					0	0	0	0	A	67050604	G	A	67050604	2	1	216	1	0	0	0	0	0	0	0	1	343	1335	47	4		4	ADRBK1	11	67050604	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	643257	67050604	67955912	122	38499											
DNAJB13	374407	broad.mit.edu	37	chr11	73681032	73681032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atacttcaagaaggtgccagGggaggggatgccattgccgg	10	7	16	8	1	1	1	1	0	0	1	1	3	1	3	3	6	4	0	3	6	3	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:73681032G>A	ENST00000339764.1	+	8	1575	c.824G>A	c.(823-825)gGg>gAg	p.G275E	RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000543947.1_Missense_Mutation_p.G100E|DNAJB13_ENST00000537753.1_Missense_Mutation_p.G100E	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	275					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					AAGGTGCCAGGGGAGGGGATG	0.542													10	162					0	0	0	0	A	73681032	G	A	73681032	3	1	216	1	0	0	0	0	1	0	0	0	4654	1232	43	4	854	4	DNAJB13	11	73681032	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	6630428	73681032	61325484	123	38500											
NCAM1	4684	broad.mit.edu	37	chr11	113102481	113102481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgccagcaacaccatcGgccaggactcccagtccatg	10	4	9	18	2	0	0	0	0	0	0	3	1	2	1	6	2	2	2	6	2	1	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:113102481G>A	ENST00000316851.7	+	9	1174	c.1174G>A	c.(1174-1176)Ggc>Agc	p.G392S	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.G274S|NCAM1_ENST00000401611.2_Missense_Mutation_p.G401S	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	402	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.G401S(2)|p.G392S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAACACCATCGGCCAGGACTC	0.582													9	99					0	0	0	0	A	113102481	G	A	113102481	3	1	216	1	0	0	0	0	1	0	0	0	10272	1116	39	1	1243	1	NCAM1	11	113102481	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	39421449	113102481	21904035	124	38501											
POU2F3	25833	broad.mit.edu	37	chr11	120170369	120170369	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccgctccagcagcttgtgCtggttcccggccacttacag	6	10	10	15	2	0	0	0	0	0	0	3	0	3	0	4	2	4	5	4	2	1	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:120170369C>A	ENST00000260264.4	+	5	335	c.301C>A	c.(301-303)Ctg>Atg	p.L101M	POU2F3_ENST00000543440.2_Missense_Mutation_p.L99M	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	99					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GCAGCTTGTGCTGGTTCCCGG	0.552											OREG0021419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	66					0.00448238	0.00471925	1	0	A	120170369	C	A	120170369	3	1	216	1	0	0	0	0	1	0	0	0	12344	796	28	4	313	4	POU2F3	11	120170369	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	7067888	120170369	14836147	125	38502											
TPI1	7167	broad.mit.edu	37	chr12	6976707	6976707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcgcgcagacactgacCttcagcgcctcggctccagc	7	6	11	17	4	1	2	1	1	0	1	3	3	2	2	3	1	3	2	3	1	0	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:6976707C>T	ENST00000229270.4	+	1	425	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	TPI1_ENST00000396705.5_5'UTR	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	0				NA -> QG (in Ref. 1; AA sequence).	fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						AGACACTGACCTTCAGCGCCT	0.652													7	14					0	0	0	0	T	6976707	C	T	6976707	3	4	216	1	0	0	0	0	1	0	0	0	16498	681	24	4	90	4	TPI1	12	6976707	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08		6976707	126875188	126	38503											
ARID2	196528	broad.mit.edu	37	chr12	46245723	46245723	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaacccgtcctgccgaCgaggagccacaaacaccagc	12	3	11	15	3	0	1	0	0	0	1	1	5	1	2	5	2	5	0	5	2	2	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:46245723C>T	ENST00000334344.6	+	15	3989	c.3817C>T	c.(3817-3819)Cga>Tga	p.R1273*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.R883*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R1124*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1273					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTCCTGCCGACGAGGAGCCAC	0.428			"N, S, F"		hepatocellular carcinoma								5	55					0	0	0	0	T	46245723	C	T	46245723	4	4	216	1	0	0	0	0	0	1	0	0	917	528	19	1	3875	1	ARID2	12	46245723	Nonsense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	39269016	46245723	87606172	127	38504											
TUBA1A	7846	broad.mit.edu	37	chr12	49580117	49580117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcgaattcggtccaacacGaggtcaatgatctccttgcc	9	11	9	12	3	2	1	1	1	1	0	5	3	3	1	3	2	3	0	3	2	3	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:49580117G>A	ENST00000546918.1	-	2	589	c.503C>T	c.(502-504)tCg>tTg	p.S168L	TUBA1A_ENST00000295766.5_Silent_p.L117L|TUBA1A_ENST00000550767.1_Silent_p.L82L|TUBA1A_ENST00000301071.7_Silent_p.L117L			Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	0					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						GGTCCAACACGAGGTCAATGA	0.413													16	146					0	0	0	0	A	49580117	G	A	49580117	3	1	216	1	0	0	0	0	1	0	0	0	16839	1045	37	1	1012	1	TUBA1A	12	49580117	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	3334394	49580117	84271778	128	38505											
KRT5	3852	broad.mit.edu	37	chr12	52913991	52913991	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggacacggaggtgaagctGgtgcgggagacagacggggt	9	4	21	7	4	0	3	0	1	0	2	0	6	0	5	0	7	2	1	0	7	1	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:52913991G>A	ENST00000252242.4	-	1	480	c.90C>T	c.(88-90)acC>acT	p.T30T		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	30	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTGAAGCTGGTGCGGGAGA	0.662													3	53					0	0	0	0	A	52913991	G	A	52913991	2	1	216	1	0	0	0	0	0	0	0	1	8531	1335	47	4		4	KRT5	12	52913991	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	3333874	52913991	80937904	129	38506											
OR6C75	390323	broad.mit.edu	37	chr12	55758919	55758919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaattccacagcagtaacaGactttattcttcttggattg	12	14	7	8	0	2	1	0	0	2	1	3	3	3	2	1	1	2	2	1	1	3	8			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:55758919G>A	ENST00000343399.3	+	1	25	c.25G>A	c.(25-27)Gac>Aac	p.D9N		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AGCAGTAACAGACTTTATTCT	0.353													4	123					0	0	0	0	A	55758919	G	A	55758919	3	1	216	1	0	0	0	0	1	0	0	0	11270	942	33	2	27	2	OR6C75	12	55758919	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	2844928	55758919	78092976	130	38507											
EP400	57634	broad.mit.edu	37	chr12	132502171	132502171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaccaccctgggctcgtcGagccccggcacccaggctct	6	5	11	19	3	1	0	0	0	1	0	3	1	1	0	5	3	2	4	5	3	1	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:132502171G>A	ENST00000333577.4	+	21	4232	c.4123G>A	c.(4123-4125)Gag>Aag	p.E1375K	EP400_ENST00000332482.4_Missense_Mutation_p.E1302K|EP400_ENST00000330386.6_Missense_Mutation_p.E1339K|EP400_ENST00000389562.2_Missense_Mutation_p.E1338K|EP400_ENST00000389561.2_Missense_Mutation_p.E1339K			Q96L91	EP400_HUMAN	E1A binding protein p400	1375					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGGCTCGTCGAGCCCCGGCA	0.612													7	65					0	0	0	0	A	132502171	G	A	132502171	3	1	216	1	0	0	0	0	1	0	0	0	5187	1059	37	1	4086	1	EP400	12	132502171	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	76743252	132502171	1349724	131	38508											
PXMP2	5827	broad.mit.edu	37	chr12	133277837	133277837	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgccttccctcctttgcaggGgaaagacgcctcagccttcg	6	9	10	16	3	1	1	1	0	0	1	4	2	3	2	5	2	2	1	5	2	1	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:133277837G>A	ENST00000545677.1	+	3	218	c.13_splice	c.e3-1	p.G5_splice	PXMP2_ENST00000539093.1_Splice_Site_p.G5_splice|RP13-672B3.2_ENST00000537262.1_Splice_Site_p.G5_splice|PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000317479.3_Splice_Site_p.G134_splice|PXMP2_ENST00000428960.2_Splice_Site_p.G41_splice			Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	0						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CCTTTGCAGGGGAAAGACGCC	0.572													15	165					0	0	0	0	A	133277837	G	A	133277837	5	1	216	1	0	0	0	0	0	0	1	0	12932	1246	43	4	415	4	PXMP2	12	133277837	Splice_Site	SNP	G	TCGA-CR-7394-01A-11D-2012-08	775666	133277837	574058	132	38509											
GOLGA3	2802	broad.mit.edu	37	chr12	133362956	133362956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgctgtcactgctgccaCcctgggctcggagctggccc	3	8	14	16	1	1	0	1	0	0	0	2	1	1	1	3	4	4	5	3	4	0	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:133362956C>T	ENST00000204726.3	-	15	3650	c.3092G>A	c.(3091-3093)gGt>gAt	p.G1031D	GOLGA3_ENST00000537452.1_Missense_Mutation_p.G1031D|GOLGA3_ENST00000456883.2_Missense_Mutation_p.G1031D|GOLGA3_ENST00000450791.2_Missense_Mutation_p.G1031D|GOLGA3_ENST00000545875.1_Missense_Mutation_p.G1031D	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1031					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		ACTGCTGCCACCCTGGGCTCG	0.692													5	41					0	0	0	0	T	133362956	C	T	133362956	3	4	216	1	0	0	0	0	1	0	0	0	6605	507	18	4	1582	4	GOLGA3	12	133362956	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	85119	133362956	488939	133	38510											
NUPL1	9818	broad.mit.edu	37	chr13	25914137	25914137	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtacatctgggtttaacttCagcaatcctggcatcacggc	10	11	9	11	1	3	0	2	0	1	0	4	0	4	0	1	3	3	4	1	3	3	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:25914137C>T	ENST00000381736.3	+	16	1915	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	NUPL1_ENST00000381718.3_Silent_p.F543F	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	555	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GGTTTAACTTCAGCAATCCTG	0.418													4	129					0	0	0	0	T	25914137	C	T	25914137	2	4	216	1	0	0	0	0	0	0	0	1	10845	825	29	2		2	NUPL1	13	25914137	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08		25914137	89255741	134	38511											
SLC46A3	283537	broad.mit.edu	37	chr13	29278221	29278221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttctaagaaagcaataCaagcaaacagggtacctgtt	15	10	9	7	0	1	1	0	0	1	1	1	1	1	1	1	1	5	5	1	1	7	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:29278221C>T	ENST00000266943.6	-	5	1529	c.1160G>A	c.(1159-1161)tGt>tAt	p.C387Y	SLC46A3_ENST00000380814.4_Missense_Mutation_p.C387Y|SLC46A3_ENST00000475385.1_5'UTR	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	387					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GAAAGCAATACAAGCAAACAG	0.398													5	70					0	0	0	0	T	29278221	C	T	29278221	3	4	216	1	0	0	0	0	1	0	0	0	14734	478	17	4	247	4	SLC46A3	13	29278221	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	3364084	29278221	85891657	135	38512											
STARD13	90627	broad.mit.edu	37	chr13	33859613	33859613	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccggccactcaccttgttGaattttagtcactagctgat	8	14	8	11	1	2	2	2	2	0	0	2	2	2	2	3	1	2	2	3	1	3	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:33859613G>C	ENST00000336934.5	-	1	279	c.163C>G	c.(163-165)Caa>Gaa	p.Q55E	STARD13_ENST00000487412.1_5'UTR	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	55	SAM.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCACCTTGTTGAATTTTAGTC	0.458													8	113					0	0	0	0	C	33859613	G	C	33859613	3	2	216	1	0	0	0	0	1	0	0	0	15346	1299	45	2	3383	2	STARD13	13	33859613	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	4581392	33859613	81310265	136	38513											
COG6	57511	broad.mit.edu	37	chr13	40261891	40261891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatcaagctactgcttctGaaaaggaacaccttgaagct	13	10	7	11	0	2	2	1	2	1	0	3	3	3	3	2	1	5	3	2	1	6	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:40261891G>A	ENST00000416691.1	+	10	1064	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	COG6_ENST00000455146.3_Missense_Mutation_p.E322K	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	322					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TACTGCTTCTGAAAAGGAACA	0.373													5	64					0	0	0	0	A	40261891	G	A	40261891	3	1	216	1	0	0	0	0	1	0	0	0	3692	1291	45	2	1002	2	COG6	13	40261891	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	6402278	40261891	74907987	137	38514											
SUPT16H	11198	broad.mit.edu	37	chr14	21822578	21822578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactcacgcacctcaccctCaggctccaggaaagaccagc	12	4	7	18	1	3	1	3	0	0	1	4	2	4	2	4	2	1	2	4	2	1	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:21822578C>T	ENST00000216297.2	-	23	3120	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	928	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ACCTCACCCTCAGGCTCCAGG	0.478													6	46					0	0	0	0	T	21822578	C	T	21822578	3	4	216	1	0	0	0	0	1	0	0	0	15486	835	29	2	377	2	SUPT16H	14	21822578	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08		21822578	85526962	138	38515											
SUPT16H	11198	broad.mit.edu	37	chr14	21825367	21825367	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacttacttcaaccattcCttgatggggtcaagagaggc	10	13	9	9	0	2	2	2	1	0	1	3	3	3	2	2	3	3	0	2	3	4	6			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:21825367C>T	ENST00000216297.2	-	22	2987	c.2649G>A	c.(2647-2649)aaG>aaA	p.K883K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	883					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCAACCATTCCTTGATGGGGT	0.413													3	16					0	0	0	0	T	21825367	C	T	21825367	2	4	216	1	0	0	0	0	0	0	0	1	15486	680	24	4		4	SUPT16H	14	21825367	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	2789	21825367	85524173	139	38516											
SUPT16H	11198	broad.mit.edu	37	chr14	21826091	21826091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtaagaaacactcacccattCcgtagcatttaccagcgcac	13	8	6	14	2	1	1	1	0	0	1	2	1	2	1	3	0	4	4	3	0	4	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:21826091C>T	ENST00000216297.2	-	21	2823	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	829					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCACCCATTCCGTAGCATTT	0.368													4	37					0	0	0	0	T	21826091	C	T	21826091	3	4	216	1	0	0	0	0	1	0	0	0	15486	864	30	2	682	2	SUPT16H	14	21826091	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	724	21826091	85523449	140	38517											
AKAP6	9472	broad.mit.edu	37	chr14	33292668	33292668	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaataagaaaactattttCaaagttaataaagatccata	22	11	4	4	0	1	2	1	0	0	2	2	3	2	2	1	0	1	1	1	0	11	7	rs113957453		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:33292668C>G	ENST00000280979.4	+	13	5819	c.5649C>G	c.(5647-5649)ttC>ttG	p.F1883L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1883					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)		AAACTATTTTCAAAGTTAATA	0.353													3	28					0	0	0	0	G	33292668	C	G	33292668	3	3	216	1	0	0	0	0	1	0	0	0	455	825	29	2	5695	2	AKAP6	14	33292668	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	11466577	33292668	74056872	141	38518											
SLC38A6	145389	broad.mit.edu	37	chr14	61510219	61510219	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctctttcatttctccaaaGaggtgtgtaagttattaaca	12	15	7	7	0	3	1	1	0	2	1	4	1	3	1	1	1	2	3	1	1	4	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:61510219G>C	ENST00000354886.2	+	10	906	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	SLC38A6_ENST00000456840.2_Missense_Mutation_p.E225Q|SLC38A6_ENST00000267488.4_Missense_Mutation_p.E248Q	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	248					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TTTCTCCAAAGAGGTGTGTAA	0.343													4	46					0	0	0	0	C	61510219	G	C	61510219	3	2	216	1	0	0	0	0	1	0	0	0	14696	943	33	2	780	2	SLC38A6	14	61510219	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	28217551	61510219	45839321	142	38519											
CPSF2	53981	broad.mit.edu	37	chr14	92625471	92625471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaggagaactaaaggatGatggagaagactcagagatg	19	5	14	3	0	1	6	1	1	0	5	1	10	1	7	0	3	1	0	0	3	6	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:92625471G>A	ENST00000298875.4	+	14	2251	c.1966G>A	c.(1966-1968)Gat>Aat	p.D656N		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	656					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		ACTAAAGGATGATGGAGAAGA	0.413													5	44					0	0	0	0	A	92625471	G	A	92625471	3	1	216	1	0	0	0	0	1	0	0	0	3855	1290	45	2	2012	2	CPSF2	14	92625471	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	31115252	92625471	14724069	143	38520											
SERPINA10	51156	broad.mit.edu	37	chr14	94750479	94750479	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatcaacttcaatcacTgttctttgtaaaacctggaa	12	15	4	10	0	5	0	4	0	1	0	5	1	5	1	1	1	2	2	1	1	5	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:94750479T>G	ENST00000554723.1	-	5	1696	c.1278A>C	c.(1276-1278)acA>acC	p.T426T	SERPINA10_ENST00000554173.1_Silent_p.T386T|SERPINA10_ENST00000393096.1_Silent_p.T386T|SERPINA10_ENST00000261994.4_Silent_p.T386T			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	386					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTTCAATCACTGTTCTTTGTA	0.428													6	22					0	0	0	0	G	94750479	T	G	94750479	2	3	216	1	0	0	0	0	0	0	0	1	14174	1567	55	5		5	SERPINA10	14	94750479	Silent	SNP	T	TCGA-CR-7394-01A-11D-2012-08	2125008	94750479	12599061	144	38521											
AHNAK2	113146	broad.mit.edu	37	chr14	105418199	105418199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatggaggggagactcaCgtcggcctccactttgggtg	6	9	15	11	2	1	1	1	0	0	1	3	3	2	2	2	5	1	1	2	5	0	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:105418199C>T	ENST00000333244.5	-	7	3708	c.3589G>A	c.(3589-3591)Gtg>Atg	p.V1197M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1197						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGACTCACGTCGGCCTCC	0.617													11	191					0	0	0	0	T	105418199	C	T	105418199	3	4	216	1	0	0	0	0	1	0	0	0	415	536	19	1	13802	1	AHNAK2	14	105418199	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	10667720	105418199	1931341	145	38522											
MAPKBP1	23005	broad.mit.edu	37	chr15	42067523	42067523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggatcaagaatctgttgaGatctccatccatcaaactgc	12	10	7	12	1	4	2	2	1	2	2	6	4	5	3	3	1	2	1	3	1	3	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:42067523G>A	ENST00000457542.2	+	2	336	c.50G>A	c.(49-51)aGa>aAa	p.R17K	MAPKBP1_ENST00000260357.7_5'UTR|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R17K|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R17K|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R17K	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	17										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AATCTGTTGAGATCTCCATCC	0.542													9	70					0	0	0	0	A	42067523	G	A	42067523	3	1	216	1	0	0	0	0	1	0	0	0	9361	942	33	2	52	2	MAPKBP1	15	42067523	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08		42067523	60463869	146	38523											
NEDD4	4734	broad.mit.edu	37	chr15	56144728	56144728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctggtggtaatccagatGaagtaggcaaaagctaaagt	16	8	11	6	0	0	2	0	1	0	1	1	2	1	2	2	3	2	4	2	3	8	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:56144728G>A	ENST00000508342.1	-	9	2596	c.2297C>T	c.(2296-2298)tCa>tTa	p.S766L	NEDD4_ENST00000435532.3_Missense_Mutation_p.S347L|NEDD4_ENST00000506154.1_Missense_Mutation_p.S750L|NEDD4_ENST00000338963.2_Missense_Mutation_p.S694L			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	766	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TAATCCAGATGAAGTAGGCAA	0.383													4	46					0	0	0	0	A	56144728	G	A	56144728	3	1	216	1	0	0	0	0	1	0	0	0	10380	1294	45	2	1730	2	NEDD4	15	56144728	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	14077205	56144728	46386664	147	38524											
IQCH	64799	broad.mit.edu	37	chr15	67629376	67629376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggttctgccatcttctCattgcacagatccctatttc	7	15	5	14	1	4	1	2	0	3	1	7	1	5	1	2	1	2	2	2	1	1	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:67629376C>A	ENST00000335894.4	+	5	517	c.451C>A	c.(451-453)Cat>Aat	p.H151N	IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	151										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GCCATCTTCTCATTGCACAGA	0.373													12	99					0.00136819	0.0014523	1	0	A	67629376	C	A	67629376	3	1	216	1	0	0	0	0	1	0	0	0	7864	826	29	2	597	2	IQCH	15	67629376	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	11484648	67629376	34902016	148	38525											
ADAMTS7	11173	broad.mit.edu	37	chr15	79092834	79092834	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggaaggagccccccgcGtcgactcgaaccgggtgcac	9	3	14	15	5	0	0	0	0	0	0	2	5	0	2	4	3	3	1	4	3	2	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:79092834G>A	ENST00000388820.4	-	2	366	c.156C>T	c.(154-156)gaC>gaT	p.D52D	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	52					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCCCCCCGCGTCGACTCGAA	0.677													3	20					0	0	0	0	A	79092834	G	A	79092834	2	1	216	1	0	0	0	0	0	0	0	1	271	1136	40	1		1	ADAMTS7	15	79092834	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	11463458	79092834	23438558	149	38526											
CRTC3	64784	broad.mit.edu	37	chr15	91172509	91172509	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctccatccaagccacgctCaataagactgtgctttcctc	9	10	5	17	1	1	1	1	0	0	1	5	1	4	1	5	0	2	2	5	0	3	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:91172509C>T	ENST00000420329.2	+	11	1158	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	CRTC3_ENST00000268184.6_Silent_p.L337L|RP11-387D10.2_ENST00000559531.1_RNA	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	337					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AAGCCACGCTCAATAAGACTG	0.448			T	MAML2	salivary gland mucoepidermoid								17	126					0	0	0	0	T	91172509	C	T	91172509	2	4	216	1	0	0	0	0	0	0	0	1	3931	813	29	2		2	CRTC3	15	91172509	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	12079675	91172509	11358883	150	38527											
ACSM2B	348158	broad.mit.edu	37	chr16	20554519	20554519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatacccatcttcatctttGattccccggtctccaaggag	10	12	6	13	1	4	1	1	1	3	0	6	2	5	2	4	2	1	0	4	2	3	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr16:20554519G>C	ENST00000329697.6	-	11	1515	c.1347C>G	c.(1345-1347)atC>atG	p.I449M	ACSM2B_ENST00000565322.1_Missense_Mutation_p.I370M|ACSM2B_ENST00000567001.1_Missense_Mutation_p.I449M|ACSM2B_ENST00000565232.1_Missense_Mutation_p.I449M	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	449					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTTCATCTTTGATTCCCCGGT	0.498													15	262					0	0	0	0	C	20554519	G	C	20554519	3	2	216	1	0	0	0	0	1	0	0	0	184	1280	45	2	402	2	ACSM2B	16	20554519	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08		20554519	69800234	151	38528											
ARMC5	79798	broad.mit.edu	37	chr16	31477278	31477278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggaccgagtggcctgcGcgctgaccctgcccttcatc	5	8	12	16	3	1	2	1	2	0	0	2	4	1	3	4	2	2	1	4	2	0	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr16:31477278G>A	ENST00000408912.3	+	7	2574	c.2257G>A	c.(2257-2259)Gcg>Acg	p.A753T	ARMC5_ENST00000268314.4_Missense_Mutation_p.A658T|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000563544.1_Missense_Mutation_p.A658T|ARMC5_ENST00000538189.1_Missense_Mutation_p.A690T|ARMC5_ENST00000412665.2_Missense_Mutation_p.A302T			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	658	BTB.						binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGTGGCCTGCGCGCTGACCCT	0.652													12	71					0	0	0	0	A	31477278	G	A	31477278	3	1	216	1	0	0	0	0	1	0	0	0	958	1087	38	1	2304	1	ARMC5	16	31477278	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	10922759	31477278	58877475	152	38529											
ACAP1	9744	broad.mit.edu	37	chr17	7253489	7253489	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggggagctgatctgggggctCgagactctgaaggcagggac	8	6	19	8	1	2	3	0	2	2	1	3	6	2	5	0	6	1	3	0	6	1	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:7253489C>G	ENST00000158762.3	+	20	2211	c.2005C>G	c.(2005-2007)Cga>Gga	p.R669G		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	669	Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	p.R669G(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TCTGGGGGCTCGAGACTCTGA	0.637													8	113					0	0	0	0	G	7253489	C	G	7253489	3	3	216	1	0	0	0	0	1	0	0	0	118	876	31	3	2083	3	ACAP1	17	7253489	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08		7253489	73941721	153	38530											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	31					0	0	0	0	T	7577120	C	T	7577120	3	4	216	1	0	0	0	0	1	0	0	0	16476	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	323631	7577120	73618090	154	38531											
CYB5D1	124637	broad.mit.edu	37	chr17	7761549	7761549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaacataacaggcccgaaGacctctgggtatcttacctg	11	8	8	14	1	2	1	0	0	2	1	2	2	2	1	4	2	3	1	4	2	5	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:7761549G>A	ENST00000332439.4	+	1	249	c.97G>A	c.(97-99)Gac>Aac	p.D33N	CYB5D1_ENST00000571846.1_Missense_Mutation_p.D33N|LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000576861.1_Intron|CYB5D1_ENST00000570446.1_Intron	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	33	Cytochrome b5 heme-binding.						heme binding			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				CAGGCCCGAAGACCTCTGGGT	0.617											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	95					0	0	0	0	A	7761549	G	A	7761549	3	1	216	1	0	0	0	0	1	0	0	0	4156	942	33	2	99	2	CYB5D1	17	7761549	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	184429	7761549	73433661	155	38532											
FAM83G	644815	broad.mit.edu	37	chr17	18881375	18881375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatggtctgtcccattctggGgagcttcctctttggggagc	4	14	13	10	0	3	0	0	0	3	0	5	2	5	2	2	5	2	1	2	5	1	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:18881375G>A	ENST00000388995.6	-	5	1827	c.1604C>T	c.(1603-1605)cCc>cTc	p.P535L	SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.P535L|FAM83G_ENST00000345041.4_Missense_Mutation_p.P535L			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	535										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCCATTCTGGGGAGCTTCCTC	0.647													6	110					0	0	0	0	A	18881375	G	A	18881375	3	1	216	1	0	0	0	0	1	0	0	0	5685	1232	43	4	875	4	FAM83G	17	18881375	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	11119826	18881375	62313835	156	38533											
NF1	4763	broad.mit.edu	37	chr17	29559140	29559140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtttcacttctagctggtCtccctctgcagcctgaagaa	8	13	8	12	0	4	2	1	1	3	1	5	2	4	2	2	1	3	3	2	1	4	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:29559140C>T	ENST00000358273.4	+	25	3630	c.3247C>T	c.(3247-3249)Ctc>Ttc	p.L1083F	NF1_ENST00000356175.3_Missense_Mutation_p.L1083F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1083					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTAGCTGGTCTCCCTCTGCA	0.353			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	24					0	0	0	0	T	29559140	C	T	29559140	3	4	216	1	0	0	0	0	1	0	0	0	10426	913	32	2	3406	2	NF1	17	29559140	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	10677765	29559140	51636070	157	38534											
MYO1D	4642	broad.mit.edu	37	chr17	31094700	31094700	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacactgtttggatctccTcaggtttgaagccaatgact	10	14	8	9	0	2	2	1	2	1	0	3	3	2	3	2	2	2	2	2	2	4	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:31094700T>A	ENST00000318217.5	-	7	1089	c.785A>T	c.(784-786)gAg>gTg	p.E262V	MYO1D_ENST00000583621.1_Missense_Mutation_p.E262V|MYO1D_ENST00000579584.1_Missense_Mutation_p.E262V|MYO1D_ENST00000394649.4_Missense_Mutation_p.E174V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	262	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTGGATCTCCTCAGGTTTGAA	0.423													6	43					0	0	0	0	A	31094700	T	A	31094700	3	1	216	1	0	0	0	0	1	0	0	0	10141	1551	54	5	2299	5	MYO1D	17	31094700	Missense_Mutation	SNP	T	TCGA-CR-7394-01A-11D-2012-08	1535560	31094700	50100510	158	38535											
LPO	4025	broad.mit.edu	37	chr17	56320355	56320355	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcagtgatgagggtccttctCcatctcccagccctcctggc	5	11	9	16	0	3	2	1	2	2	0	7	2	5	2	5	2	1	0	5	2	0	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:56320355C>G	ENST00000262290.4	+	2	331	c.15C>G	c.(13-15)ctC>ctG	p.L5L	LPO_ENST00000421678.2_Silent_p.L5L|LPO_ENST00000582328.1_Silent_p.L5L|LPO_ENST00000543544.1_5'UTR	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	5					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGGTCCTTCTCCATCTCCCAG	0.537													11	195					0	0	0	0	G	56320355	C	G	56320355	2	3	216	1	0	0	0	0	0	0	0	1	8986	842	30	2		2	LPO	17	56320355	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	25225655	56320355	24874855	159	38536											
TLK2	11011	broad.mit.edu	37	chr17	60598197	60598197	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggatccttgagtgataaaGaagtagaggtaagaagctat	15	10	12	4	1	0	5	0	2	0	3	2	6	1	6	1	2	1	3	1	2	7	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:60598197G>C	ENST00000326270.9	+	3	413	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q	TLK2_ENST00000542523.1_Missense_Mutation_p.E49Q|TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000343388.7_Missense_Mutation_p.E49Q|TLK2_ENST00000346027.5_Missense_Mutation_p.E49Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	49					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GAGTGATAAAGAAGTAGAGGT	0.413													6	79					0	0	0	0	C	60598197	G	C	60598197	3	2	216	1	0	0	0	0	1	0	0	0	16038	943	33	2	151	2	TLK2	17	60598197	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	4277842	60598197	20597013	160	38537											
SOX9	6662	broad.mit.edu	37	chr17	70120527	70120527	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacagctcactcgaccttGaggaggcctcccacgaaggg	10	5	11	15	2	1	1	1	1	0	0	3	4	2	2	3	3	1	1	3	3	1	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:70120527G>A	ENST00000245479.2	+	3	1901	c.1529G>A	c.(1528-1530)tGa>tAa	p.*510*		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	0					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACTCGACCTTGAGGAGGCCTC	0.552													5	80					0	0	0	0	A	70120527	G	A	70120527	2	1	216	1	0	0	0	0	0	0	0	1	15046	1285	45	2		2	SOX9	17	70120527	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	9522330	70120527	11074683	161	38538											
ITGB4	3691	broad.mit.edu	37	chr17	73729739	73729739	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctgcgagtatgacaacttCcagtgtccccgcacttccgg	7	11	9	14	3	1	1	0	1	1	0	4	2	4	1	4	1	2	2	4	1	2	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:73729739C>T	ENST00000200181.3	+	13	1810	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.F541F|ITGB4_ENST00000449880.2_Silent_p.F541F|ITGB4_ENST00000579662.1_Silent_p.F541F|ITGB4_ENST00000339591.3_Silent_p.F541F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	541	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGACAACTTCCAGTGTCCCC	0.612													4	42					0	0	0	0	T	73729739	C	T	73729739	2	4	216	1	0	0	0	0	0	0	0	1	7950	854	30	2		2	ITGB4	17	73729739	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	3609212	73729739	7465471	162	38539											
QRICH2	84074	broad.mit.edu	37	chr17	74287504	74287504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaatcatgactgtcaaagaGagagaaagcatggccatgct	15	8	11	7	0	2	4	2	2	0	2	2	6	2	4	1	1	2	2	1	1	3	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:74287504G>A	ENST00000262765.5	-	4	2985	c.2806C>T	c.(2806-2808)Ctc>Ttc	p.L936F		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	936							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTGTCAAAGAGAGAGAAAGCA	0.507													6	58					0	0	0	0	A	74287504	G	A	74287504	3	1	216	1	0	0	0	0	1	0	0	0	12962	942	33	2	2249	2	QRICH2	17	74287504	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	557765	74287504	6907706	163	38540											
TNRC6C	57690	broad.mit.edu	37	chr17	76060832	76060832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggggagaaatgcctaatGttcactcaaagactgaaaac	15	8	10	8	0	2	3	2	1	0	2	2	4	2	3	1	2	2	2	1	2	5	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:76060832G>A	ENST00000335749.4	+	4	2985	c.2416G>A	c.(2416-2418)Gtt>Att	p.V806I	TNRC6C_ENST00000541771.1_Missense_Mutation_p.V809I|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V809I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V806I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V806I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V809I	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	809	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AATGCCTAATGTTCACTCAAA	0.458													6	68					0	0	0	0	A	76060832	G	A	76060832	3	1	216	1	0	0	0	0	1	0	0	0	16436	1377	48	4	2431	4	TNRC6C	17	76060832	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	1773328	76060832	5134378	164	38541											
VAPA	9218	broad.mit.edu	37	chr18	9931855	9931855	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcttaaattgcgaaatccatCggatagaaaagtgtgtttca	14	13	8	6	2	2	1	1	0	1	1	4	3	3	2	1	1	1	1	1	1	6	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr18:9931855C>G	ENST00000400000.2	+	2	383	c.128C>G	c.(127-129)tCg>tGg	p.S43W	VAPA_ENST00000584796.1_3'UTR|VAPA_ENST00000340541.4_Missense_Mutation_p.S43W	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	43	MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						CGAAATCCATCGGATAGAAAA	0.393													4	90					0	0	0	0	G	9931855	C	G	9931855	3	3	216	1	0	0	0	0	1	0	0	0	17217	893	31	3	134	3	VAPA	18	9931855	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08		9931855	68145393	165	38542											
ZNF521	25925	broad.mit.edu	37	chr18	22805793	22805793	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattgcttgtcacaactctCacagatgtaatacgttgaag	13	12	8	8	1	2	2	2	1	1	1	3	3	2	2	0	0	3	3	0	0	5	5			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr18:22805793C>A	ENST00000361524.3	-	4	2237	c.2089G>T	c.(2089-2091)Gag>Tag	p.E697*	ZNF521_ENST00000538137.2_Nonsense_Mutation_p.E697*|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.E477*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	697					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.E697*(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCACAACTCTCACAGATGTAA	0.453			T	PAX5	ALL								8	111					0.00307968	0.00325566	1	0	A	22805793	C	A	22805793	4	1	216	1	0	0	0	0	0	1	0	0	18060	835	29	2	1866	2	ZNF521	18	22805793	Nonsense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	12873938	22805793	55271455	166	38543											
CELF4	56853	broad.mit.edu	37	chr18	34833849	34833849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgccgatctggaagccgttCatggcctggatggcggtctg	6	10	15	10	3	3	0	1	0	2	0	3	3	3	2	3	5	2	1	3	5	1	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr18:34833849C>T	ENST00000420428.2	-	12	1781	c.1386G>A	c.(1384-1386)atG>atA	p.M462I	CELF4_ENST00000591282.1_Missense_Mutation_p.M462I|CELF4_ENST00000591287.1_Missense_Mutation_p.M460I|CELF4_ENST00000334919.5_Missense_Mutation_p.M424I|CELF4_ENST00000590011.1_5'UTR|CELF4_ENST00000361795.5_Missense_Mutation_p.M460I|CELF4_ENST00000412753.1_Missense_Mutation_p.M461I|CELF4_ENST00000603232.1_Missense_Mutation_p.M461I|CELF4_ENST00000601019.1_Missense_Mutation_p.M460I	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	462	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GGAAGCCGTTCATGGCCTGGA	0.692													9	75					0	0	0	0	T	34833849	C	T	34833849	3	4	216	1	0	0	0	0	1	0	0	0	3247	826	29	2	78	2	CELF4	18	34833849	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	12028056	34833849	43243399	167	38544											
HMHA1	23526	broad.mit.edu	37	chr19	1073166	1073166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctccttgaggcccgccGcccgcgggcccacgagtgcc	5	4	13	19	5	0	2	0	1	0	1	1	3	1	2	7	2	1	0	7	2	0	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:1073166G>A	ENST00000313093.2	+	3	671	c.440G>A	c.(439-441)cGc>cAc	p.R147H	HMHA1_ENST00000590214.1_Missense_Mutation_p.R174H|HMHA1_ENST00000592335.1_Missense_Mutation_p.A28T|HMHA1_ENST00000586866.1_Missense_Mutation_p.R151H|HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000539243.2_Missense_Mutation_p.R163H|HMHA1_ENST00000543365.1_Missense_Mutation_p.R30H	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	147					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GAGGCCCGCCGCCCGCGGGCC	0.647													8	89					0	0	0	0	A	1073166	G	A	1073166	3	1	216	1	0	0	0	0	1	0	0	0	7290	1087	38	1	450	1	HMHA1	19	1073166	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08		1073166	58055817	168	38545											
PTPRS	5802	broad.mit.edu	37	chr19	5212212	5212212	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctctggcttgatccgctCaagcatggcgtcgatgacga	7	11	11	12	4	2	2	1	2	1	0	5	4	3	2	1	2	1	3	1	2	1	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:5212212C>G	ENST00000372412.4	-	32	5055	c.4822G>C	c.(4822-4824)Gag>Cag	p.E1608Q	PTPRS_ENST00000357368.4_Missense_Mutation_p.E1607Q|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1569Q|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1160Q|PTPRS_ENST00000587303.1_Missense_Mutation_p.E1607Q|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1160Q|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1569Q|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1587Q			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1607	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTGATCCGCTCAAGCATGGCG	0.622													4	84					0	0	0	0	G	5212212	C	G	5212212	3	3	216	1	0	0	0	0	1	0	0	0	12893	835	29	2	1055	2	PTPRS	19	5212212	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	4139046	5212212	53916771	169	38546											
ICAM1	3383	broad.mit.edu	37	chr19	10394872	10394872	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccacagtcacctatggcaaCgactccttctcggccaaggc	9	7	8	17	2	2	0	1	0	1	0	4	1	3	0	4	3	1	1	4	3	3	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:10394872C>T	ENST00000264832.3	+	4	1126	c.801C>T	c.(799-801)aaC>aaT	p.N267N	ICAM1_ENST00000423829.2_Silent_p.N45N|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	267	Ig-like C2-type 3.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CCTATGGCAACGACTCCTTCT	0.632													9	77					0	0	0	0	T	10394872	C	T	10394872	2	4	216	1	0	0	0	0	0	0	0	1	7532	535	19	1		1	ICAM1	19	10394872	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	5182660	10394872	48734111	170	38547											
ZNF44	51710	broad.mit.edu	37	chr19	12384320	12384320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttacattcatacggtttCtccccagtgtgtattttttc	6	19	6	10	1	2	0	1	0	1	0	4	0	2	0	2	1	3	3	2	1	3	8			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:12384320C>T	ENST00000356109.5	-	5	1012	c.894G>A	c.(892-894)gaG>gaA	p.E298E	ZNF44_ENST00000355684.5_Silent_p.E250E	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CATACGGTTTCTCCCCAGTGT	0.393													10	147					0	0	0	0	T	12384320	C	T	12384320	2	4	216	1	0	0	0	0	0	0	0	1	18007	912	32	2		2	ZNF44	19	12384320	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	1989448	12384320	46744663	171	38548											
NANOS3	342977	broad.mit.edu	37	chr19	13991286	13991286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccgggaagtctgagccttCgccctcctgctctccctcca	4	10	9	18	2	2	1	0	1	2	0	6	2	4	2	6	1	3	1	6	1	1	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:13991286C>T	ENST00000397555.2	+	3	491	c.491C>T	c.(490-492)tCg>tTg	p.S164L	NANOS3_ENST00000591727.1_5'UTR|NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000339133.5_Missense_Mutation_p.S183L	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	164					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	p.S183L(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCTGAGCCTTCGCCCTCCTGC	0.612											OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	54					0	0	0	0	T	13991286	C	T	13991286	3	4	216	1	0	0	0	0	1	0	0	0	10223	893	31	1	554	1	NANOS3	19	13991286	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	1606966	13991286	45137697	172	38549											
PKN1	5585	broad.mit.edu	37	chr19	14569134	14569134	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaggatttcttggacaatGagaggcatgaggtgcagctg	10	10	16	5	0	1	2	0	2	1	1	1	6	1	5	0	5	2	3	0	5	1	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:14569134G>C	ENST00000242783.6	+	9	1531	c.1366G>C	c.(1366-1368)Gag>Cag	p.E456Q	PKN1_ENST00000342216.4_Missense_Mutation_p.E462Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	456	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CTTGGACAATGAGAGGCATGA	0.582													4	58					0	0	0	0	C	14569134	G	C	14569134	3	2	216	1	0	0	0	0	1	0	0	0	12051	1291	45	2	1443	2	PKN1	19	14569134	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	577848	14569134	44559849	173	38550											
CYP4F2	8529	broad.mit.edu	37	chr19	16006353	16006353	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccggatgatgtcggggtgGcacaaactgaggagggggga	10	5	20	6	2	0	2	0	2	0	0	1	6	0	5	1	8	1	1	1	8	1	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:16006353G>A	ENST00000221700.5	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000592328.1_Intron|CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	102					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597													4	185					0	0	0	0	A	16006353	G	A	16006353	2	1	216	1	0	0	0	0	0	0	0	1	4220	1195	42	4		4	CYP4F2	19	16006353	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	1437219	16006353	43122630	174	38551											
HAUS5	23354	broad.mit.edu	37	chr19	36113850	36113850	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgccccagtggcggctGcgctgggttcaggcccaggg	3	7	16	15	2	1	0	1	0	0	0	2	0	2	0	4	5	2	3	4	5	0	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:36113850G>A	ENST00000203166.5	+	19	1882	c.1857G>A	c.(1855-1857)ctG>ctA	p.L619L	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	619					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGTGGCGGCTGCGCTGGGTTC	0.652													14	62					0	0	0	0	A	36113850	G	A	36113850	2	1	216	1	0	0	0	0	0	0	0	1	7019	1306	46	4		4	HAUS5	19	36113850	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	20107497	36113850	23015133	175	38552											
SAMD4B	55095	broad.mit.edu	37	chr19	39867397	39867397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcatccagaagctgcGtgagagacagagcgtcctca	11	6	12	12	2	1	5	1	2	0	3	3	6	3	5	3	0	4	2	3	0	1	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:39867397G>A	ENST00000314471.6	+	9	2105	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.R357H	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	357	SAM.						protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CAGAAGCTGCGTGAGAGACAG	0.557													8	36					0	0	0	0	A	39867397	G	A	39867397	3	1	216	1	0	0	0	0	1	0	0	0	13907	1145	40	1	1088	1	SAMD4B	19	39867397	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	3753547	39867397	19261586	176	38553											
TIMM50	92609	broad.mit.edu	37	chr19	39971230	39971230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataagtgtgatcccttccttCgctgcgtcctttgcaggggc	5	13	11	12	2	0	1	0	1	0	0	4	1	3	1	3	2	2	2	3	2	1	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:39971230C>T	ENST00000314349.4	+	1	179	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C		NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	0					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCCTTCCTTCGCTGCGTCCT	0.562													8	82					0	0	0	0	T	39971230	C	T	39971230	3	4	216	1	0	0	0	0	1	0	0	0	16007	884	31	1	48	1	TIMM50	19	39971230	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	103833	39971230	19157753	177	38554											
CD177	57126	broad.mit.edu	37	chr19	43865665	43865665	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaacctgttcaagtggcTccccccgaatgacctgcccc	7	9	9	16	1	1	1	1	1	0	0	2	3	2	2	7	2	2	2	7	2	3	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:43865665T>C	ENST00000378009.4	+	0	1176				CTC-490G23.4_ENST00000607109.1_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TTCAAGTGGCTCCCCCCGAAT	0.607													3	40					0	0	0	0	C	43865665	T	C	43865665	1	2	216	0	1	0	0	0	0	0	0	0	3000	1551	54	5		5	CD177	19	43865665	RNA	SNP	T	TCGA-CR-7394-01A-11D-2012-08	3894435	43865665	15263318	178	38555											
ZNF225	7768	broad.mit.edu	37	chr19	44635574	44635574	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaatgtgggaaggccttCattcatgattcccagcttca	11	11	10	9	0	3	2	3	1	0	1	4	4	4	3	2	2	1	1	2	2	2	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:44635574C>A	ENST00000262894.6	+	5	1087	c.807C>A	c.(805-807)ttC>ttA	p.F269L	ZNF225_ENST00000590612.1_Missense_Mutation_p.F269L|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GGAAGGCCTTCATTCATGATT	0.408													10	88					0.00621372	0.00648932	1	0	A	44635574	C	A	44635574	3	1	216	1	0	0	0	0	1	0	0	0	17874	825	29	2	821	2	ZNF225	19	44635574	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	769909	44635574	14493409	179	38556											
APOC1	341	broad.mit.edu	37	chr19	45419544	45419544	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacaaggctcgggaactcatCagccgcatcaaacagagtga	14	5	11	11	2	3	2	3	1	0	1	4	4	3	3	1	2	3	2	1	2	3	0			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:45419544C>G	ENST00000588750.1	+	4	481	c.156C>G	c.(154-156)atC>atG	p.I52M	APOC1_ENST00000592885.1_Missense_Mutation_p.I52M|APOC1_ENST00000586638.1_Missense_Mutation_p.I52M|APOC1_ENST00000588802.1_Missense_Mutation_p.I52M|APOC1_ENST00000589781.1_Intron|APOC1_ENST00000252491.4_Missense_Mutation_p.I52M			P02654	APOC1_HUMAN	apolipoprotein C-I	52					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GGGAACTCATCAGCCGCATCA	0.587													8	95					0	0	0	0	G	45419544	C	G	45419544	3	3	216	1	0	0	0	0	1	0	0	0	799	816	29	2	162	2	APOC1	19	45419544	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	783970	45419544	13709439	180	38557											
OPA3	80207	broad.mit.edu	37	chr19	46057068	46057068	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtggcttcgcccagcagctCtgcgcccagctcagctgccg	4	7	13	17	3	2	0	1	0	1	0	3	0	2	0	3	2	6	5	3	2	0	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:46057068C>G	ENST00000263275.4	-	2	298	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	OPA3_ENST00000323060.3_Intron|OPA3_ENST00000544371.1_Missense_Mutation_p.E29Q	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	82					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CCCAGCAGCTCTGCGCCCAGC	0.657													7	30					0	0	0	0	G	46057068	C	G	46057068	3	3	216	1	0	0	0	0	1	0	0	0	10943	922	32	2	704	2	OPA3	19	46057068	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	637524	46057068	13071915	181	38558											
OPA3	80207	broad.mit.edu	37	chr19	46057095	46057095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctcagctgccgcctcctCgttcagcggcttgatgaccg	5	9	11	16	4	2	2	2	2	0	0	4	2	3	2	4	1	4	4	4	1	0	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:46057095C>T	ENST00000263275.4	-	2	271	c.217G>A	c.(217-219)Gag>Aag	p.E73K	OPA3_ENST00000323060.3_Intron|OPA3_ENST00000544371.1_Missense_Mutation_p.E20K	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	73					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GCCGCCTCCTCGTTCAGCGGC	0.657													5	30					0	0	0	0	T	46057095	C	T	46057095	3	4	216	1	0	0	0	0	1	0	0	0	10943	893	31	1	731	1	OPA3	19	46057095	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	27	46057095	13071888	182	38559											
LILRB1	10859	broad.mit.edu	37	chr19	55143593	55143593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtgggccccgtgagccCgagtcgcaggtggtggtaca	5	7	16	13	4	0	1	0	1	0	0	2	2	1	1	4	4	2	2	4	4	1	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:55143593C>T	ENST00000396331.1	+	6	923	c.566C>T	c.(565-567)cCg>cTg	p.P189L	LILRB1_ENST00000396315.1_Missense_Mutation_p.P189L|LILRB1_ENST00000418536.2_Missense_Mutation_p.P189L|LILRB1_ENST00000396317.1_Missense_Mutation_p.P189L|LILRB1_ENST00000324602.7_Missense_Mutation_p.P189L|LILRB1_ENST00000396321.2_Missense_Mutation_p.P189L|LILRB1_ENST00000448689.1_Missense_Mutation_p.P189L|LILRB1_ENST00000434867.2_Missense_Mutation_p.P189L|LILRB1_ENST00000396332.4_Missense_Mutation_p.P189L|LILRB1_ENST00000396327.3_Missense_Mutation_p.P189L|LILRB1_ENST00000427581.2_Missense_Mutation_p.P225L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	189	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P189L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCGTGAGCCCGAGTCGCAGG	0.592										HNSCC(37;0.09)			17	147					0	0	0	0	T	55143593	C	T	55143593	3	4	216	1	0	0	0	0	1	0	0	0	8844	652	23	1	580	1	LILRB1	19	55143593	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	9086498	55143593	3985390	183	38560											
NLRP7	199713	broad.mit.edu	37	chr19	55450785	55450785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaactgctggaagctgaggtGgatgaaggagtagcagcctt	12	8	15	6	0	0	2	0	2	0	0	0	5	0	5	1	4	5	4	1	4	4	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:55450785G>A	ENST00000588756.1	-	6	1888	c.1402C>T	c.(1402-1404)Cac>Tac	p.H468Y	NLRP7_ENST00000592784.1_Missense_Mutation_p.H468Y|NLRP7_ENST00000590030.1_Missense_Mutation_p.H468Y|NLRP7_ENST00000340844.2_Missense_Mutation_p.H468Y|NLRP7_ENST00000328092.5_Missense_Mutation_p.H468Y|NLRP7_ENST00000448121.2_Missense_Mutation_p.H468Y|NLRP7_ENST00000446217.1_Missense_Mutation_p.H496Y			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	468	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)		AAGCTGAGGTGGATGAAGGAG	0.622													3	40					0	0	0	0	A	55450785	G	A	55450785	3	1	216	1	0	0	0	0	1	0	0	0	10552	1348	47	4	1743	4	NLRP7	19	55450785	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	307192	55450785	3678198	184	38561											
ZSCAN1	284312	broad.mit.edu	37	chr19	58564809	58564809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccacagggtcccgggcccGcttgcctctgaagccgagta	6	7	12	16	3	1	1	0	1	1	0	3	2	3	1	5	2	2	2	5	2	2	2	rs149388605	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:58564809G>T	ENST00000282326.1	+	6	864	c.617G>T	c.(616-618)cGc>cTc	p.R206L		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	206					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCCCGGGCCCGCTTGCCTCTG	0.662													8	76					1.26484e-09	1.37645e-09	1	0	T	58564809	G	T	58564809	3	4	216	1	0	0	0	0	1	0	0	0	18319	1087	38	3	631	3	ZSCAN1	19	58564809	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	3114024	58564809	564174	185	38562											
ZNF544	27300	broad.mit.edu	37	chr19	58773055	58773055	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtgtaatcagtgtggaaaAtctttcagctgttgtaagct	10	15	11	5	0	3	0	2	0	1	0	3	1	3	1	0	1	2	5	0	1	4	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:58773055A>G	ENST00000269829.4	+	7	1557	c.1083A>G	c.(1081-1083)aaA>aaG	p.K361K	CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600220.1_Silent_p.K333K|ZNF544_ENST00000596652.1_Silent_p.K361K|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599953.1_Silent_p.K219K|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600044.1_Silent_p.K333K|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000415203.2_Silent_p.K333K|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	361					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)		AGTGTGGAAAATCTTTCAGCT	0.458													8	54					0	0	0	0	G	58773055	A	G	58773055	2	3	216	1	0	0	0	0	0	0	0	1	18072	98	4	5		5	ZNF544	19	58773055	Silent	SNP	A	TCGA-CR-7394-01A-11D-2012-08	208246	58773055	355928	186	38563											
ANGPT4	51378	broad.mit.edu	37	chr20	870886	870886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtcggtcagcttgcggatCtgggcagtggtctggttcag	5	12	16	8	2	4	0	2	0	2	0	5	1	4	1	0	5	2	3	0	5	0	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr20:870886C>T	ENST00000381922.3	-	2	537	c.435G>A	c.(433-435)caG>caA	p.Q145Q	ANGPT4_ENST00000546022.1_Silent_p.Q145Q	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	145					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTTGCGGATCTGGGCAGTGG	0.622													3	43					0	0	0	0	T	870886	C	T	870886	2	4	216	1	0	0	0	0	0	0	0	1	612	912	32	2		2	ANGPT4	20	870886	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08		870886	62154634	187	38564											
AVP	551	broad.mit.edu	37	chr20	3065205	3065205	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacagtgggaagtacctgtCtcagctccaggtcggacatg	9	8	12	12	1	1	0	1	0	1	0	4	2	2	2	3	3	2	2	3	3	2	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr20:3065205C>G	ENST00000380293.3	-	1	165	c.116G>C	c.(115-117)aGa>aCa	p.R39T		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	39					cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		AAGTACCTGTCTCAGCTCCAG	0.642													5	155					0	0	0	0	G	3065205	C	G	3065205	3	3	216	1	0	0	0	0	1	0	0	0	1233	913	32	2	390	2	AVP	20	3065205	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	2194319	3065205	59960315	188	38565											
PLCB4	5332	broad.mit.edu	37	chr20	9317800	9317800	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtttgaacccaactgcCtcttcaaagtggatgagttt	9	15	9	8	0	2	2	1	2	1	0	2	3	2	3	2	1	3	2	2	1	3	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr20:9317800C>G	ENST00000378501.2	+	2	127	c.112C>G	c.(112-114)Ctc>Gtc	p.L38V	PLCB4_ENST00000378473.3_Missense_Mutation_p.L38V|PLCB4_ENST00000334005.3_Missense_Mutation_p.L38V|PLCB4_ENST00000278655.4_Missense_Mutation_p.L38V|PLCB4_ENST00000414679.2_Missense_Mutation_p.L38V|PLCB4_ENST00000378493.1_Missense_Mutation_p.L38V|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	38					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACCCAACTGCCTCTTCAAAGT	0.383													3	75					0	0	0	0	G	9317800	C	G	9317800	3	3	216	1	0	0	0	0	1	0	0	0	12102	681	24	4	118	4	PLCB4	20	9317800	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	6252595	9317800	53707720	189	38566											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812939	31812939	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagatcccttggatgtggAaacactggccttggatctct	10	12	10	9	0	1	1	0	0	1	1	3	4	2	4	2	4	1	0	2	4	2	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr21:31812939A>T	ENST00000334067.3	+	1	343	c.294A>T	c.(292-294)ggA>ggT	p.G98G		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	98						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TTGGATGTGGAAACACTGGCC	0.493													12	144					0	0	0	0	T	31812939	A	T	31812939	2	4	216	1	0	0	0	0	0	0	0	1	8578	233	9	5		5	KRTAP15-1	21	31812939	Silent	SNP	A	TCGA-CR-7394-01A-11D-2012-08		31812939	16316956	190	38567											
TRPM2	7226	broad.mit.edu	37	chr21	45821618	45821618	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccgcgcccgtgccttcttCaccgcacccgtggtggtctt	2	10	11	18	5	3	0	1	0	2	0	3	0	3	0	5	2	1	1	5	2	0	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr21:45821618C>T	ENST00000397928.1	+	16	2821	c.2376C>T	c.(2374-2376)ttC>ttT	p.F792F	TRPM2_ENST00000300482.5_Silent_p.F792F|TRPM2_ENST00000300481.9_Silent_p.F772F|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.F792F	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	792						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GTGCCTTCTTCACCGCACCCG	0.652													17	193					0	0	0	0	T	45821618	C	T	45821618	2	4	216	1	0	0	0	0	0	0	0	1	16681	825	29	2		2	TRPM2	21	45821618	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	14008679	45821618	2308277	191	38568											
SH3BP1	23616	broad.mit.edu	37	chr22	38041500	38041500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgtcatgatgctgctttctGagggcatgaaggaagaggtg	9	10	16	6	1	2	4	1	3	1	1	2	5	2	5	0	3	2	3	0	3	2	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:38041500G>A	ENST00000599616.1	+	8	715	c.715G>A	c.(715-717)Gag>Aag	p.E239K	SH3BP1_ENST00000336738.5_Missense_Mutation_p.E303K|SH3BP1_ENST00000442465.2_Missense_Mutation_p.E303K|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000357436.4_Missense_Mutation_p.E303K|Z83844.1_ENST00000456099.1_RNA			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	303	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GCTGCTTTCTGAGGGCATGAA	0.642													14	85					0	0	0	0	A	38041500	G	A	38041500	3	1	216	1	0	0	0	0	1	0	0	0	14331	1291	45	2	945	2	SH3BP1	22	38041500	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08		38041500	13263066	192	38569											
MGAT3	4248	broad.mit.edu	37	chr22	39884499	39884499	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacggcatccgcctgcgcCgccgccagtactacaccatg	7	6	11	17	5	0	0	0	0	0	0	1	1	1	1	6	2	3	2	6	2	2	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:39884499C>G	ENST00000341184.6	+	2	1362	c.1147C>G	c.(1147-1149)Cgc>Ggc	p.R383G		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	383					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCGCCTGCGCCGCCGCCAGTA	0.657													10	81					0	0	0	0	G	39884499	C	G	39884499	3	3	216	1	0	0	0	0	1	0	0	0	9613	652	23	3	1149	3	MGAT3	22	39884499	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	1842999	39884499	11420067	193	38570											
EP300	2033	broad.mit.edu	37	chr22	41568590	41568590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atttctggcccaatgttctgGaagaaagcattaaggaactg	13	11	10	7	0	2	1	0	0	2	1	2	3	2	3	1	3	2	2	1	3	5	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:41568590G>A	ENST00000263253.7	+	28	5759	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1514					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAATGTTCTGGAAGAAAGCAT	0.398			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				4	26					0	0	0	0	A	41568590	G	A	41568590	3	1	216	1	0	0	0	0	1	0	0	0	5186	1175	41	2	4650	2	EP300	22	41568590	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	1684091	41568590	9735976	194	38571											
EP300	2033	broad.mit.edu	37	chr22	41574519	41574519	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcgactccttcagcaacaGatggggtcccctgttcagcc	8	8	10	15	1	2	1	2	0	0	1	4	2	4	1	4	2	4	2	4	2	1	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:41574519G>A	ENST00000263253.7	+	31	8023	c.6804G>A	c.(6802-6804)caG>caA	p.Q2268Q	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2268					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTCAGCAACAGATGGGGTCCC	0.577			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				4	92					0	0	0	0	A	41574519	G	A	41574519	2	1	216	1	0	0	0	0	0	0	0	1	5186	933	33	2		2	EP300	22	41574519	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	5929	41574519	9730047	195	38572											
NAGA	4668	broad.mit.edu	37	chr22	42461814	42461814	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgctccacgaaccaattCaggatggagagcacgctcca	11	7	11	12	2	1	1	1	0	0	1	3	4	3	2	3	3	3	3	3	3	2	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:42461814C>T	ENST00000396398.3	-	6	1219	c.687G>A	c.(685-687)ctG>ctA	p.L229L	NAGA_ENST00000402937.1_Silent_p.L229L|NAGA_ENST00000403363.1_Silent_p.L229L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	229					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CGAACCAATTCAGGATGGAGA	0.577													5	55					0	0	0	0	T	42461814	C	T	42461814	2	4	216	1	0	0	0	0	0	0	0	1	10211	813	29	2		2	NAGA	22	42461814	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	887295	42461814	8842752	196	38573											
SMC1B	27127	broad.mit.edu	37	chr22	45802535	45802535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttcactgaaattgactCtacagttcccttttaaaaac	12	16	3	10	0	3	2	1	2	2	0	4	2	4	2	1	0	2	1	1	0	5	7			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:45802535C>T	ENST00000357450.4	-	4	420	c.421G>A	c.(421-423)Gag>Aag	p.E141K	SMC1B_ENST00000404354.3_Missense_Mutation_p.E141K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	141					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAAATTGACTCTACAGTTCCC	0.318													6	56					0	0	0	0	T	45802535	C	T	45802535	3	4	216	1	0	0	0	0	1	0	0	0	14870	922	32	2	3374	2	SMC1B	22	45802535	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	3340721	45802535	5502031	197	38574											
FAM9A	171482	broad.mit.edu	37	chrX	8759387	8759387	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcttcactggaagaaaTgatgcaataattgtctttag	13	15	7	6	0	3	2	1	1	2	1	3	3	3	3	0	1	1	1	0	1	5	6			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:8759387T>G	ENST00000543214.1	-	9	1099	c.964A>C	c.(964-966)Att>Ctt	p.I322L	FAM9A_ENST00000381003.3_Missense_Mutation_p.I322L	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	322						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTGGAAGAAATGATGCAATAA	0.348													10	22					0	0	0	0	G	8759387	T	G	8759387	3	3	216	1	0	0	0	0	1	0	0	0	5704	1464	51	5	38	5	FAM9A	23	8759387	Missense_Mutation	SNP	T	TCGA-CR-7394-01A-11D-2012-08		8759387	146511173	198	38575											
MAP7D2	256714	broad.mit.edu	37	chrX	20033405	20033405	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctctctcgagacgcatcTgttcagctacctcccgggcc	5	11	9	16	3	4	1	1	0	3	1	7	2	5	1	3	1	2	4	3	1	1	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:20033405T>G	ENST00000379651.3	-	11	1580	c.1562A>C	c.(1561-1563)cAg>cCg	p.Q521P	MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q476P|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q469P|MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q406P|MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q562P	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	521										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GAGACGCATCTGTTCAGCTAC	0.458													14	62					0	0	0	0	G	20033405	T	G	20033405	3	3	216	1	0	0	0	0	1	0	0	0	9337	1580	55	5	656	5	MAP7D2	23	20033405	Missense_Mutation	SNP	T	TCGA-CR-7394-01A-11D-2012-08	11274018	20033405	135237155	199	38576											
ZMYM3	9203	broad.mit.edu	37	chrX	70470529	70470529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatggcacaaagtcctcatCattggggtcatctaccatgg	11	10	10	10	0	4	0	3	0	1	0	5	1	5	0	2	4	1	1	2	4	3	2			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:70470529C>T	ENST00000373998.1	-	5	1523	c.826G>A	c.(826-828)Gat>Aat	p.D276N	ZMYM3_ENST00000353904.2_Missense_Mutation_p.D276N|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.D278N|ZMYM3_ENST00000373984.3_Missense_Mutation_p.D278N|ZMYM3_ENST00000373988.1_Missense_Mutation_p.D278N|ZMYM3_ENST00000373981.1_Missense_Mutation_p.D276N|ZMYM3_ENST00000314425.5_Missense_Mutation_p.D276N|ZMYM3_ENST00000373978.1_Intron	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	276					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AAGTCCTCATCATTGGGGTCA	0.567													4	14					0	0	0	0	T	70470529	C	T	70470529	3	4	216	1	0	0	0	0	1	0	0	0	17796	826	29	2	3388	2	ZMYM3	23	70470529	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	50437124	70470529	84800031	200	38577											
ACSL4	2182	broad.mit.edu	37	chrX	108926545	108926545	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgacagagcgatatggActtccaggtttgtctgaagt	9	13	13	6	1	1	3	0	2	1	1	2	5	2	4	1	2	1	1	1	2	2	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:108926545A>G	ENST00000340800.2	-	4	675	c.171T>C	c.(169-171)agT>agC	p.S57S	ACSL4_ENST00000348502.6_Silent_p.S16S|ACSL4_ENST00000469796.2_Silent_p.S57S	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	57					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AGCGATATGGACTTCCAGGTT	0.403													5	190					0	0	0	0	G	108926545	A	G	108926545	2	3	216	1	0	0	0	0	0	0	0	1	179	272	10	5		5	ACSL4	23	108926545	Silent	SNP	A	TCGA-CR-7394-01A-11D-2012-08	38456016	108926545	46344015	201	38578											
AMOT	154796	broad.mit.edu	37	chrX	112048305	112048305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagcttctccttctcaCgctggctttctttatctgtc	3	18	5	15	1	4	0	1	0	4	0	8	0	5	0	2	1	1	3	2	1	1	6	rs147627113	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:112048305C>T	ENST00000371959.3	-	5	1645	c.1646G>A	c.(1645-1647)cGt>cAt	p.R549H	AMOT_ENST00000371962.1_Missense_Mutation_p.R317H|AMOT_ENST00000304758.1_Missense_Mutation_p.R140H|AMOT_ENST00000371958.1_Missense_Mutation_p.R317H|AMOT_ENST00000524145.1_Missense_Mutation_p.R549H	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	549					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CTCCTTCTCACGCTGGCTTTC	0.498													6	158					0	0	0	0	T	112048305	C	T	112048305	3	4	216	1	0	0	0	0	1	0	0	0	582	536	19	1	1636	1	AMOT	23	112048305	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	3121760	112048305	43222255	202	38579											
LRCH2	57631	broad.mit.edu	37	chrX	114357438	114357438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgtcatcaggcaaaattActtttaacctggattcaaga	15	12	6	8	0	3	1	3	0	0	1	3	2	3	2	1	2	2	1	1	2	6	4			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:114357438A>G	ENST00000317135.8	-	19	2015	c.1985T>C	c.(1984-1986)gTa>gCa	p.V662A	LRCH2_ENST00000538422.1_Missense_Mutation_p.V645A	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	662	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						AGGCAAAATTACTTTTAACCT	0.328													3	17					0	0	0	0	G	114357438	A	G	114357438	3	3	216	1	0	0	0	0	1	0	0	0	8997	391	14	5	324	5	LRCH2	23	114357438	Missense_Mutation	SNP	A	TCGA-CR-7394-01A-11D-2012-08	2309133	114357438	40913122	203	38580											
KIAA1210	57481	broad.mit.edu	37	chrX	118220735	118220735	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcactcttatacttctgCgagggaggggctcttttcag	6	15	10	10	1	5	0	2	0	4	0	6	2	5	1	0	3	2	1	0	3	2	6			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:118220735C>T	ENST00000402510.2	-	11	4457	c.4458G>A	c.(4456-4458)tcG>tcA	p.S1486S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1486										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TATACTTCTGCGAGGGAGGGG	0.448													3	32					0	0	0	0	T	118220735	C	T	118220735	2	4	216	1	0	0	0	0	0	0	0	1	8265	755	27	1		1	KIAA1210	23	118220735	Silent	SNP	C	TCGA-CR-7394-01A-11D-2012-08	3863297	118220735	37049825	204	38581											
PASD1	139135	broad.mit.edu	37	chrX	150828296	150828296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagttttcctggatactatgCctgaatctccaggtaggtac	9	13	9	10	0	1	1	0	1	1	0	3	2	2	2	3	3	3	3	3	3	5	6			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:150828296C>T	ENST00000370357.4	+	10	1074	c.829C>T	c.(829-831)Cct>Tct	p.P277S		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	277						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGATACTATGCCTGAATCTCC	0.383													4	45					0	0	0	0	T	150828296	C	T	150828296	3	4	216	1	0	0	0	0	1	0	0	0	11542	739	26	4	863	4	PASD1	23	150828296	Missense_Mutation	SNP	C	TCGA-CR-7394-01A-11D-2012-08	32607561	150828296	4442264	205	38582											
GABRQ	55879	broad.mit.edu	37	chrX	151821396	151821396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatggccccagtgggaaGcccatgcttcaccatggcga	8	6	13	14	1	1	0	1	0	0	0	1	2	1	1	5	4	2	1	5	4	1	1			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:151821396G>T	ENST00000370306.2	+	9	1571	c.1551G>T	c.(1549-1551)aaG>aaT	p.K517N		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	517						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTGGGAAGCCCATGCTTC	0.547													4	60					0.00909568	0.00942312	1	0	T	151821396	G	T	151821396	3	4	216	1	0	0	0	0	1	0	0	0	6223	962	34	4	1585	4	GABRQ	23	151821396	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08	993100	151821396	3449164	206	38583											
SLC6A8	6535	broad.mit.edu	37	chrX	152960239	152960239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaacacctacgtgtacccGtggtggggtgaggccatggg	9	7	15	10	2	0	1	0	1	0	0	0	1	0	1	3	5	4	1	3	5	4	2	rs149677083	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:152960239G>A	ENST00000253122.5	+	12	2138	c.1662G>A	c.(1660-1662)ccG>ccA	p.P554P	SLC6A8_ENST00000430077.2_Silent_p.P439P|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	554			P -> L (in XL-CDS).		creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	ACGTGTACCCGTGGTGGGGTG	0.622													8	32					0	0	0	0	A	152960239	G	A	152960239	2	1	216	1	0	0	0	0	0	0	0	1	14778	1132	40	1		1	SLC6A8	23	152960239	Silent	SNP	G	TCGA-CR-7394-01A-11D-2012-08	1138843	152960239	2310321	207	38584											
PCDH11Y	83259	broad.mit.edu	37	chrY	4968225	4968225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgctgtagtaagatgtcGccaggcaccacaccttaagg	11	8	10	12	1	0	1	0	0	0	1	1	1	0	1	3	2	1	4	3	2	3	3			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrY:4968225G>A	ENST00000333703.4	+	5	3086	c.2573G>A	c.(2572-2574)cGc>cAc	p.R858H	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R869H|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R869H	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	869					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTAAGATGTCGCCAGGCACCA	0.448													22	44					0	0	0	0	A	4968225	G	A	4968225	3	1	216	1	0	0	0	0	1	0	0	0	11580	1087	38	1	2648	1	PCDH11Y	24	4968225	Missense_Mutation	SNP	G	TCGA-CR-7394-01A-11D-2012-08		4968225	54405341	208	38585											
SLC1A7	6512	broad.mit.edu	37	chr1	53580588	53580588	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaggtagtacgccacggtGaggacgcccaggcggctaga	10	4	15	12	4	0	2	0	1	0	1	0	3	0	3	2	5	1	3	2	5	3	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:53580588G>A	ENST00000371494.4	-	3	400	c.273C>T	c.(271-273)ctC>ctT	p.L91L	SLC1A7_ENST00000371491.4_Silent_p.L91L|RP11-334A14.8_ENST00000439621.1_RNA	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	91						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	ACGCCACGGTGAGGACGCCCA	0.647													6	19					0	0	0	0	A	53580588	G	A	53580588	2	1	217	1	0	0	0	0	0	0	0	1	14525	1277	45	2		2	SLC1A7	1	53580588	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08		53580588	195670033	1	38586											
ITGB3BP	23421	broad.mit.edu	37	chr1	63944501	63944502	+	Frame_Shift_Del	DEL	TT	TT	-																															ggtgattcaatttttttctcTtttctatatatgtgtaataa																										TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:63944501_63944502delTT	ENST00000371092.3	-	5	364_365	c.304_305delAA	c.(304-306)gfs	p.K102fs	ITGB3BP_ENST00000283568.8_Frame_Shift_Del_p.K63fs|ITGB3BP_ENST00000271002.10_Frame_Shift_Del_p.K63fs	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	63					apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TTTTTTTCTCTTTTCTATATAT	0.228													8	41	---	---	---	---					-	63944502	TT	-	63944501	7	5	217	1	0	1	0	1	0	0	0	0	7949	1609	56	0	365	0	ITGB3BP	1	63944501	Frame_Shift_Del	DEL	TT	TCGA-CR-7395-01A-11D-2012-08	10363913	63944501	185306120	2	38587											
CACHD1	57685	broad.mit.edu	37	chr1	65142628	65142628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacatacacagctattgAccctggcctgcaagatgctc	10	9	10	12	0	0	3	0	2	0	1	1	3	0	3	2	2	4	3	2	2	3	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:65142628A>G	ENST00000371073.2	+	22	3026	c.3026A>G	c.(3025-3027)gAc>gGc	p.D1009G	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.D958G			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1009					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACAGCTATTGACCCTGGCCTG	0.532													14	106					0	0	0	0	G	65142628	A	G	65142628	3	3	217	1	0	0	0	0	1	0	0	0	2562	275	10	5	2959	5	CACHD1	1	65142628	Missense_Mutation	SNP	A	TCGA-CR-7395-01A-11D-2012-08	1198127	65142628	184107993	3	38588											
FAM73A	374986	broad.mit.edu	37	chr1	78325024	78325024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgttggagtgcctaggaGacagtgattttcttgccaaa	12	12	11	6	0	1	2	0	1	1	1	1	4	1	3	2	2	2	1	2	2	3	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:78325024G>C	ENST00000370791.3	+	10	1173	c.1141G>C	c.(1141-1143)Gac>Cac	p.D381H	FAM73A_ENST00000443751.2_Missense_Mutation_p.D343H	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	381						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GTGCCTAGGAGACAGTGATTT	0.383													8	55					0	0	0	0	C	78325024	G	C	78325024	3	2	217	1	0	0	0	0	1	0	0	0	5663	942	33	2	1179	2	FAM73A	1	78325024	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	13182396	78325024	170925597	4	38589											
DNASE2B	58511	broad.mit.edu	37	chr1	84864283	84864283	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcaagactgctaagaacAtcctttgctttgctcttcct	9	14	7	11	0	1	2	0	0	1	2	3	2	3	2	2	1	4	4	2	1	3	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:84864283A>T	ENST00000370665.3	+	1	69	c.36A>T	c.(34-36)acA>acT	p.T12T		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	12					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TGCTAAGAACATCCTTTGCTT	0.463													10	186					0	0	0	0	T	84864283	A	T	84864283	2	4	217	1	0	0	0	0	0	0	0	1	4701	204	8	5		5	DNASE2B	1	84864283	Silent	SNP	A	TCGA-CR-7395-01A-11D-2012-08	6539259	84864283	164386338	5	38590											
SYDE2	84144	broad.mit.edu	37	chr1	85648848	85648848	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatggttccataattcccaAttcagtactatttgtagcag	12	14	7	8	0	1	1	1	0	0	1	3	1	3	1	2	1	2	4	2	1	5	8			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:85648848A>T	ENST00000341460.5	-	3	1526	c.1477T>A	c.(1477-1479)Ttg>Atg	p.L493M		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	493					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATAATTCCCAATTCAGTACTA	0.328													12	81					0	0	0	0	T	85648848	A	T	85648848	3	4	217	1	0	0	0	0	1	0	0	0	15527	98	4	5	2127	5	SYDE2	1	85648848	Missense_Mutation	SNP	A	TCGA-CR-7395-01A-11D-2012-08	784565	85648848	163601773	6	38591											
DDAH1	23576	broad.mit.edu	37	chr1	85790448	85790448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactttctggatactcttccGgggttcggtgcagcaagacg	7	11	12	11	3	2	1	0	0	2	1	4	2	3	2	1	4	3	3	1	4	2	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:85790448G>A	ENST00000284031.8	-	5	810	c.716C>T	c.(715-717)cCg>cTg	p.P239L	DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000539042.1_Missense_Mutation_p.P239L|DDAH1_ENST00000426972.3_Missense_Mutation_p.P146L|RP11-131L23.1_ENST00000427819.1_RNA|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000542148.1_Missense_Mutation_p.P139L|DDAH1_ENST00000535924.2_Missense_Mutation_p.P136L	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	239					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	ATACTCTTCCGGGGTTCGGTG	0.473													11	78					0	0	0	0	A	85790448	G	A	85790448	3	1	217	1	0	0	0	0	1	0	0	0	4353	1116	39	1	149	1	DDAH1	1	85790448	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	141600	85790448	163460173	7	38592											
PKLR	5313	broad.mit.edu	37	chr1	155264372	155264372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacgtcgctggctttcCgcacaaaggaggcaaagacg	11	5	12	13	4	0	1	0	0	0	1	2	2	1	2	2	3	1	4	2	3	2	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:155264372C>T	ENST00000392414.3	-	6	886	c.773G>A	c.(772-774)cGg>cAg	p.R258Q	PKLR_ENST00000342741.4_Missense_Mutation_p.R289Q	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	289					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.R289L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCTGGCTTTCCGCACAAAGGA	0.627													6	49					0	0	0	0	T	155264372	C	T	155264372	3	4	217	1	0	0	0	0	1	0	0	0	12048	652	23	1	882	1	PKLR	1	155264372	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	69473924	155264372	93986249	8	38593											
HMCN1	83872	broad.mit.edu	37	chr1	186026439	186026439	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaagaactcagtatctttGacttgtgaagcttctggaat	13	13	9	6	0	3	3	1	2	2	1	3	5	3	4	0	1	2	2	0	1	6	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:186026439G>A	ENST00000271588.4	+	46	7447	c.7218G>A	c.(7216-7218)ttG>ttA	p.L2406L	HMCN1_ENST00000367492.2_Silent_p.L2406L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2406	Ig-like C2-type 22.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGTATCTTTGACTTGTGAAG	0.423													8	58					0	0	0	0	A	186026439	G	A	186026439	2	1	217	1	0	0	0	0	0	0	0	1	7270	1281	45	2		2	HMCN1	1	186026439	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	30762067	186026439	63224182	9	38594											
ZBTB41	360023	broad.mit.edu	37	chr1	197128556	197128556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatcaaggcccagtaatgttCcaagataagattgttctcta	13	13	7	8	0	2	2	1	0	1	2	4	2	3	2	2	1	0	3	2	1	6	7			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:197128556C>T	ENST00000367405.4	-	10	2731	c.2663G>A	c.(2662-2664)gGa>gAa	p.G888E	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	888					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CAGTAATGTTCCAAGATAAGA	0.373													15	89					0	0	0	0	T	197128556	C	T	197128556	3	4	217	1	0	0	0	0	1	0	0	0	17638	855	30	2	70	2	ZBTB41	1	197128556	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	11102117	197128556	52122065	10	38595											
SOX13	9580	broad.mit.edu	37	chr1	204085730	204085730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctcctgacagcccactcgGagcagaagaacatggctgcc	11	5	11	14	1	0	3	0	1	0	2	2	4	1	4	3	2	5	3	3	2	2	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:204085730G>A	ENST00000367204.1	+	5	623	c.514G>A	c.(514-516)Gag>Aag	p.E172K	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	172					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCCCACTCGGAGCAGAAGAA	0.597													7	77					0	0	0	0	A	204085730	G	A	204085730	3	1	217	1	0	0	0	0	1	0	0	0	15032	1175	41	2	528	2	SOX13	1	204085730	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	6957174	204085730	45164891	11	38596											
NFASC	23114	broad.mit.edu	37	chr1	204943329	204943329	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgcctcggatgctgtcGccccggaaccagctcattcg	5	8	12	16	5	1	0	1	0	0	0	4	2	1	2	5	2	4	2	5	2	1	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:204943329G>A	ENST00000367172.4	+	13	1630	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	NFASC_ENST00000539706.1_Silent_p.S445S|NFASC_ENST00000360049.4_Silent_p.S445S|NFASC_ENST00000513543.1_Silent_p.S445S|NFASC_ENST00000404076.1_Silent_p.S428S|NFASC_ENST00000339876.6_Silent_p.S434S|NFASC_ENST00000404907.1_Silent_p.S445S|NFASC_ENST00000401399.1_Silent_p.S434S|NFASC_ENST00000367169.4_Silent_p.S434S|NFASC_ENST00000367170.4_Silent_p.S434S|NFASC_ENST00000367171.4_Silent_p.S434S|NFASC_ENST00000338515.6_Silent_p.S434S|NFASC_ENST00000403080.1_Silent_p.S434S|NFASC_ENST00000338586.6_Silent_p.S434S			O94856	NFASC_HUMAN	neurofascin	434	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGATGCTGTCGCCCCGGAACC	0.552													4	16					0	0	0	0	A	204943329	G	A	204943329	2	1	217	1	0	0	0	0	0	0	0	1	10429	1074	38	1		1	NFASC	1	204943329	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	857599	204943329	44307292	12	38597											
TTC13	79573	broad.mit.edu	37	chr1	231057232	231057232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaaatattctaggtatctCatgttgatcacctgacccct	11	14	5	11	0	4	2	3	2	2	0	5	2	4	2	3	1	0	2	3	1	5	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:231057232C>G	ENST00000366661.4	-	16	1840	c.1833G>C	c.(1831-1833)atG>atC	p.M611I	TTC13_ENST00000414259.1_Missense_Mutation_p.M558I|TTC13_ENST00000366662.4_Missense_Mutation_p.M558I	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	611							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTAGGTATCTCATGTTGATCA	0.269													3	29					0	0	0	0	G	231057232	C	G	231057232	3	3	217	1	0	0	0	0	1	0	0	0	16776	826	29	2	781	2	TTC13	1	231057232	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	26113903	231057232	18193389	13	38598											
OR1C1	26188	broad.mit.edu	37	chr1	247921358	247921358	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatatctatcatacgccatCacacacagaaggaggctgtc	14	8	7	12	1	3	1	2	0	1	1	4	2	3	2	1	2	1	1	1	2	4	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:247921358C>A	ENST00000408896.2	-	1	624	c.351G>T	c.(349-351)gtG>gtT	p.V117V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CATACGCCATCACACACAGAA	0.488													6	53					5.9392e-07	1.19874e-06	1	0	A	247921358	C	A	247921358	2	1	217	1	0	0	0	0	0	0	0	1	11023	813	29	2		2	OR1C1	1	247921358	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08	16864126	247921358	1329263	14	38599											
GREB1	9687	broad.mit.edu	37	chr2	11758602	11758602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggccgacgccccagcccGactgtagcctcaggaccggc	6	3	13	19	5	1	0	1	0	0	0	1	3	1	1	7	3	2	1	7	3	1	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:11758602G>A	ENST00000381486.2	+	22	3901	c.3601G>A	c.(3601-3603)Gac>Aac	p.D1201N	GREB1_ENST00000234142.5_Missense_Mutation_p.D1201N|GREB1_ENST00000396123.1_Missense_Mutation_p.D199N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1201	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCCCCAGCCCGACTGTAGCCT	0.692													8	18					0	0	0	0	A	11758602	G	A	11758602	3	1	217	1	0	0	0	0	1	0	0	0	6810	1058	37	1	3791	1	GREB1	2	11758602	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08		11758602	231440771	15	38600											
DNMT3A	1788	broad.mit.edu	37	chr2	25468900	25468900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacttaccctcaatgttcCggcacttctgccgcacctcg	8	10	6	17	3	2	0	1	0	1	0	4	0	3	0	4	1	3	3	4	1	3	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:25468900C>T	ENST00000264709.3	-	12	1800	c.1463G>A	c.(1462-1464)cGg>cAg	p.R488Q	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R265Q|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R299Q|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R488Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	488	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCAATGTTCCGGCACTTCTG	0.602			"Mis, F, N, S"		AML								10	67					0	0	0	0	T	25468900	C	T	25468900	3	4	217	1	0	0	0	0	1	0	0	0	4712	652	23	1	1323	1	DNMT3A	2	25468900	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	13710298	25468900	217730473	16	38601											
CAPN13	92291	broad.mit.edu	37	chr2	30961324	30961324	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggcatcaatgtccagcctCtgatccaaacaaggaaggaa	14	7	10	10	0	2	1	1	1	1	0	4	3	4	3	3	3	2	1	3	3	5	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:30961324C>T	ENST00000295055.8	-	16	1713		c.e16-1		CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTCCAGCCTCTGATCCAAAC	0.527													3	16					0	0	0	0	T	30961324	C	T	30961324	5	4	217	1	0	0	0	0	0	0	1	0	2651	927	32	2	501	2	CAPN13	2	30961324	Splice_Site	SNP	C	TCGA-CR-7395-01A-11D-2012-08	5492424	30961324	212238049	17	38602											
FBXO11	80204	broad.mit.edu	37	chr2	48035487	48035487	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctatcatgtctaataaactCtacatcatgtccctgatggc	11	13	5	12	0	4	1	2	1	2	0	5	1	5	1	2	1	2	0	2	1	5	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:48035487C>G	ENST00000403359.3	-	22	2707	c.2635G>C	c.(2635-2637)Gag>Cag	p.E879Q	FBXO11_ENST00000434523.2_Missense_Mutation_p.E303Q|FBXO11_ENST00000316377.4_Missense_Mutation_p.E795Q|FBXO11_ENST00000405808.1_Missense_Mutation_p.E33Q|FBXO11_ENST00000402508.1_Missense_Mutation_p.E795Q	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	879					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTAATAAACTCTACATCATGT	0.353			"Mis, F, D"		DLBCL								5	56					0	0	0	0	G	48035487	C	G	48035487	3	3	217	1	0	0	0	0	1	0	0	0	5772	922	32	2	156	2	FBXO11	2	48035487	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	17074163	48035487	195163886	18	38603											
CCT4	10575	broad.mit.edu	37	chr2	62099641	62099641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagggcatcatgaatggagCgctcagcttcttcaatcacc	11	10	9	11	1	5	1	4	1	1	0	5	2	5	2	1	2	2	3	1	2	3	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:62099641C>T	ENST00000394440.3	-	11	1504	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	CCT4_ENST00000538252.1_Missense_Mutation_p.R347H|CCT4_ENST00000461540.2_Intron|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Missense_Mutation_p.R373H|CCT4_ENST00000544185.1_Missense_Mutation_p.R253H	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	403					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ATGAATGGAGCGCTCAGCTTC	0.363													7	41					0	0	0	0	T	62099641	C	T	62099641	3	4	217	1	0	0	0	0	1	0	0	0	2984	768	27	1	427	1	CCT4	2	62099641	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	14064154	62099641	181099732	19	38604											
CIAO1	9391	broad.mit.edu	37	chr2	96933588	96933588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacagttgatgaagaggatGagtatgaatgtgtcagtgtt	12	12	13	4	0	1	5	1	4	0	1	1	6	1	6	1	1	0	3	1	1	3	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:96933588G>A	ENST00000488633.1	+	4	634	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	139					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						TGAAGAGGATGAGTATGAATG	0.537													5	64					0	0	0	0	A	96933588	G	A	96933588	3	1	217	1	0	0	0	0	1	0	0	0	3447	1291	45	2	429	2	CIAO1	2	96933588	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	34833947	96933588	146265785	20	38605											
RGPD3	653489	broad.mit.edu	37	chr2	107032306	107032306	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggttttctgatctcacCttaatttgctccataaggac	9	14	7	11	0	2	1	1	1	2	0	4	2	3	2	3	2	1	2	3	2	2	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:107032306C>T	ENST00000409886.3	-	21	5151	c.5064_splice	c.e21+1	p.K1688_splice	RGPD3_ENST00000304514.7_Splice_Site_p.K1688_splice	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1688					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGATCTCACCTTAATTTGCT	0.438													17	179					0	0	0	0	T	107032306	C	T	107032306	5	4	217	1	0	0	0	0	0	0	1	0	13369	695	24	4	224	4	RGPD3	2	107032306	Splice_Site	SNP	C	TCGA-CR-7395-01A-11D-2012-08	10098718	107032306	136167067	21	38606											
ANAPC1	64682	broad.mit.edu	37	chr2	112608430	112608430	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagtactgggccgaggcaTtgtgttggacatcgtcagag	8	10	16	7	2	1	1	1	0	0	1	2	4	1	3	1	4	1	3	1	4	1	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:112608430T>C	ENST00000341068.3	-	14	2345	c.1573A>G	c.(1573-1575)Atg>Gtg	p.M525V		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	525					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCCGAGGCATTGTGTTGGAC	0.438													8	33					0	0	0	0	C	112608430	T	C	112608430	3	2	217	1	0	0	0	0	1	0	0	0	598	1493	52	5	4401	5	ANAPC1	2	112608430	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08	5576124	112608430	130590943	22	38607											
GLI2	2736	broad.mit.edu	37	chr2	121748215	121748215	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctccatgctcaccagcctCgccgaggagagcaagttcct	9	7	10	15	2	1	1	1	0	0	1	4	3	3	1	5	1	4	4	5	1	1	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:121748215C>T	ENST00000452319.1	+	14	4785	c.4725C>T	c.(4723-4725)ctC>ctT	p.L1575L	GLI2_ENST00000361492.4_Silent_p.L1575L			P10070	GLI2_HUMAN	GLI family zinc finger 2	1575					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)				TCACCAGCCTCGCCGAGGAGA	0.647													14	104					0	0	0	0	T	121748215	C	T	121748215	2	4	217	1	0	0	0	0	0	0	0	1	6489	871	31	1		1	GLI2	2	121748215	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08	9139785	121748215	121451158	23	38608											
LRP2	4036	broad.mit.edu	37	chr2	170050337	170050337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcaccgtcacagatccattCgcttgggatgcacctcccac	9	9	7	16	2	2	1	2	0	0	1	5	2	4	2	4	1	1	2	4	1	0	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:170050337C>T	ENST00000263816.3	-	47	9049	c.8764G>A	c.(8764-8766)Gaa>Aaa	p.E2922K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2922	LDL-receptor class A 21.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGATCCATTCGCTTGGGATG	0.458													18	73					0	0	0	0	T	170050337	C	T	170050337	3	4	217	1	0	0	0	0	1	0	0	0	9020	893	31	1	5335	1	LRP2	2	170050337	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	48302122	170050337	73149036	24	38609											
PLEKHA3	65977	broad.mit.edu	37	chr2	179360322	179360322	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaatgccaagtttaaacctGagatgtttcaactgcaccat	13	11	6	11	0	1	1	1	1	0	1	1	2	1	1	4	0	4	3	4	0	5	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:179360322G>C	ENST00000234453.4	+	5	952	c.550G>C	c.(550-552)Gag>Cag	p.E184Q		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	184						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GTTTAAACCTGAGATGTTTCA	0.428													18	121					0	0	0	0	C	179360322	G	C	179360322	3	2	217	1	0	0	0	0	1	0	0	0	12129	1291	45	2	568	2	PLEKHA3	2	179360322	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	9309985	179360322	63839051	25	38610											
TTN	7273	broad.mit.edu	37	chr2	179481235	179481235	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttccggctgacttctcGtttttcaacaacgtatccag	7	16	7	11	3	2	1	1	1	1	0	5	1	4	1	2	1	2	4	2	1	3	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:179481235G>A	ENST00000589042.1	-	257	48507	c.48283C>T	c.(48283-48285)Cga>Tga	p.R16095*	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R14454*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7155*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7030*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7222*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R13527*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14454	Ig-like 99.						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)			CTGACTTCTCGTTTTTCAACA	0.433													38	115					0	0	0	0	A	179481235	G	A	179481235	4	1	217	1	0	0	0	0	0	1	0	0	16831	1153	40	1	59834	1	TTN	2	179481235	Nonsense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	120913	179481235	63718138	26	38611											
CASP8	841	broad.mit.edu	37	chr2	202131442	202131443	+	Frame_Shift_Ins	INS	-	-	C																															ctggatttgctgattacctaINScctaaacactagaaaggagg																										TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:202131442_202131443insC	ENST00000358485.4	+	2	606_607	c.410_411insC	c.(409-411)tctfs	p.S137fs	CASP8_ENST00000323492.7_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000392258.3_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000392259.2_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000392266.3_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000264274.9_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000264275.5_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000432109.2_Frame_Shift_Ins_p.S78fs	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	78	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGATTACCTACCTAAACACTA	0.475										HNSCC(4;0.00038)			13	52	---	---	---	---					C	202131443	-	C	202131442	7	5	217	1	0	1	1	0	0	0	0	0	2702	391	14	0	416	0	CASP8	2	202131442	Frame_Shift_Ins	INS	-	TCGA-CR-7395-01A-11D-2012-08	22650207	202131442	41067931	27	38612											
STRADB	55437	broad.mit.edu	37	chr2	202337702	202337702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatttgacaacttgacttCtgtccatcttgcacggcata	10	13	8	10	1	2	2	0	2	2	0	3	3	3	3	1	2	2	2	1	2	2	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:202337702C>T	ENST00000194530.3	+	5	583	c.218C>T	c.(217-219)tCt>tTt	p.S73F	STRADB_ENST00000392249.2_Missense_Mutation_p.S73F	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	73	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AACTTGACTTCTGTCCATCTT	0.358													10	79					0	0	0	0	T	202337702	C	T	202337702	3	4	217	1	0	0	0	0	1	0	0	0	15415	913	32	2	232	2	STRADB	2	202337702	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	206260	202337702	40861671	28	38613											
PTH2R	5746	broad.mit.edu	37	chr2	209308254	209308254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaacttctgtggacaaaTcacaatatgtaagtgttttc	13	13	8	7	0	2	0	1	0	1	0	3	1	2	1	0	2	1	3	0	2	5	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:209308254T>C	ENST00000272847.2	+	6	904	c.691T>C	c.(691-693)Tca>Cca	p.S231P	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	231						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGTGGACAAATCACAATATGT	0.363													5	50					0	0	0	0	C	209308254	T	C	209308254	3	2	217	1	0	0	0	0	1	0	0	0	12840	1435	50	5	713	5	PTH2R	2	209308254	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08	6970552	209308254	33891119	29	38614											
MARCH4	57574	broad.mit.edu	37	chr2	217124235	217124235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtctcctcttccgaggaggGgatattggcctgggtggatg	5	11	17	8	1	2	0	0	0	2	0	4	4	3	3	3	7	0	0	3	7	1	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:217124235G>A	ENST00000273067.4	-	4	2799	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	345						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TCCGAGGAGGGGATATTGGCC	0.632													5	29					0	0	0	0	A	217124235	G	A	217124235	3	1	217	1	0	0	0	0	1	0	0	0	9372	1232	43	4	203	4	MARCH4	2	217124235	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	7815981	217124235	26075138	30	38615											
BCS1L	617	broad.mit.edu	37	chr2	219527683	219527683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggatggtgtggcttccaccGaggcccgcatcgtgttcatg	5	11	14	11	3	1	0	1	0	0	0	3	2	2	1	3	4	0	3	3	4	0	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:219527683G>A	ENST00000431802.1	+	7	1666	c.967G>A	c.(967-969)Gag>Aag	p.E323K	BCS1L_ENST00000412366.1_Missense_Mutation_p.E323K|BCS1L_ENST00000392109.1_Missense_Mutation_p.E323K|BCS1L_ENST00000439945.1_Missense_Mutation_p.E323K|BCS1L_ENST00000392110.2_Missense_Mutation_p.E323K|BCS1L_ENST00000392111.2_Missense_Mutation_p.E323K|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000359273.3_Missense_Mutation_p.E323K			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	323					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTTCCACCGAGGCCCGCAT	0.567													14	100					0	0	0	0	A	219527683	G	A	219527683	3	1	217	1	0	0	0	0	1	0	0	0	1393	1059	37	1	989	1	BCS1L	2	219527683	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	2403448	219527683	23671690	31	38616											
GOLGA4	2803	broad.mit.edu	37	chr3	37388711	37388711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtaccatacggatgtctCactctttggagaacctaccg	9	13	8	11	2	2	1	1	0	2	1	3	3	2	2	3	2	4	1	3	2	4	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:37388711C>T	ENST00000361924.2	+	21	6874	c.6500C>T	c.(6499-6501)tCa>tTa	p.S2167L	GOLGA4_ENST00000356847.4_Missense_Mutation_p.S2182L|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2167					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACGGATGTCTCACTCTTTGGA	0.343													6	61					0	0	0	0	T	37388711	C	T	37388711	3	4	217	1	0	0	0	0	1	0	0	0	6606	838	29	2	6652	2	GOLGA4	3	37388711	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08		37388711	160633719	32	38617											
XIRP1	165904	broad.mit.edu	37	chr3	39230363	39230363	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtctcaaagagcatccTggtaccctgcacatctccgc	8	8	8	17	3	2	1	1	0	2	1	5	1	3	1	4	1	3	3	4	1	2	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:39230363T>G	ENST00000340369.3	-	2	802	c.574A>C	c.(574-576)Agg>Cgg	p.R192R	XIRP1_ENST00000396251.1_Silent_p.R192R|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	192							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAGAGCATCCTGGTACCCTGC	0.632													7	75					0	0	0	0	G	39230363	T	G	39230363	2	3	217	1	0	0	0	0	0	0	0	1	17525	1579	55	5		5	XIRP1	3	39230363	Silent	SNP	T	TCGA-CR-7395-01A-11D-2012-08	1841652	39230363	158792067	33	38618											
CX3CR1	1524	broad.mit.edu	37	chr3	39307506	39307506	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttctgctttgtgaacatGaactggggtgctgccaccaa	8	13	10	10	0	2	2	0	2	2	0	2	2	2	2	2	2	5	2	2	2	3	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:39307506G>A	ENST00000541347.1	-	2	734	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CX3CR1_ENST00000542107.1_Silent_p.F165F|CX3CR1_ENST00000399220.2_Silent_p.F165F|CX3CR1_ENST00000358309.3_Silent_p.F197F	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	165					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTGTGAACATGAACTGGGGTG	0.547													13	99					0	0	0	0	A	39307506	G	A	39307506	2	1	217	1	0	0	0	0	0	0	0	1	4107	1281	45	2		2	CX3CR1	3	39307506	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	77143	39307506	158714924	34	38619											
GRM2	2912	broad.mit.edu	37	chr3	51746802	51746802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctttgagggtgtggtgcGagccctgctgcagaagccca	6	8	16	11	1	0	2	0	1	0	1	0	3	0	2	3	3	5	2	3	3	1	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:51746802G>A	ENST00000395052.3	+	3	998	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	GRM2_ENST00000442933.2_Missense_Mutation_p.R255Q|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	255					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGTGTGGTGCGAGCCCTGCTG	0.662													9	53					0	0	0	0	A	51746802	G	A	51746802	3	1	217	1	0	0	0	0	1	0	0	0	6847	1058	37	1	770	1	GRM2	3	51746802	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	12439296	51746802	146275628	35	38620											
OR5H14	403273	broad.mit.edu	37	chr3	97868522	97868522	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatatctctctctgaatgcaAgatacagttgttttcgtttg	9	17	8	7	1	2	2	0	1	2	1	5	3	2	2	0	0	2	4	0	0	4	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:97868522A>T	ENST00000437310.1	+	1	353	c.293A>T	c.(292-294)aAg>aTg	p.K98M		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTGAATGCAAGATACAGTTG	0.383													27	186					0	0	0	0	T	97868522	A	T	97868522	3	4	217	1	0	0	0	0	1	0	0	0	11231	72	3	5	295	5	OR5H14	3	97868522	Missense_Mutation	SNP	A	TCGA-CR-7395-01A-11D-2012-08	46121720	97868522	100153908	36	38621											
OR5H15	403274	broad.mit.edu	37	chr3	97887666	97887666	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tatctcatcaccatcatgggGaatcttggtctgattgctgt	8	15	9	9	0	5	1	3	1	3	0	6	2	5	2	1	3	1	1	1	3	2	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:97887666G>C	ENST00000356526.2	+	1	123	c.123G>C	c.(121-123)ggG>ggC	p.G41G		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCATCATGGGGAATCTTGGTC	0.408													22	191					0	0	0	0	C	97887666	G	C	97887666	2	2	217	1	0	0	0	0	0	0	0	1	11232	1161	41	2		2	OR5H15	3	97887666	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	19144	97887666	100134764	37	38622											
PVRL3	25945	broad.mit.edu	37	chr3	110831075	110831075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaggagaatatcagggaaGagtcttgtttaaaaattact	16	12	9	4	0	3	2	2	0	1	2	3	4	3	3	0	2	1	1	0	2	8	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:110831075G>A	ENST00000485303.1	+	2	634	c.359G>A	c.(358-360)aGa>aAa	p.R120K	PVRL3_ENST00000319792.3_Missense_Mutation_p.R120K|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000493615.1_Missense_Mutation_p.R97K	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	120	Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	p.R120T(1)|p.R97T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TATCAGGGAAGAGTCTTGTTT	0.373													7	50					0	0	0	0	A	110831075	G	A	110831075	3	1	217	1	0	0	0	0	1	0	0	0	12923	942	33	2	365	2	PVRL3	3	110831075	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	12943409	110831075	87191355	38	38623											
CEP63	80254	broad.mit.edu	37	chr3	134251719	134251719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaagatcggtctgaaattGagaggttaactgcaaaaata	16	9	12	4	1	1	3	0	2	1	2	2	5	1	4	0	3	2	2	0	3	6	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:134251719G>A	ENST00000337090.3	+	5	591	c.418G>A	c.(418-420)Gag>Aag	p.E140K	CEP63_ENST00000383229.3_Missense_Mutation_p.E140K|CEP63_ENST00000354446.3_Missense_Mutation_p.E140K|CEP63_ENST00000332047.5_Missense_Mutation_p.E140K|CEP63_ENST00000606977.1_Missense_Mutation_p.E140K|CEP63_ENST00000513612.2_Missense_Mutation_p.E140K			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	140					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCTGAAATTGAGAGGTTAAC	0.363													9	22					0	0	0	0	A	134251719	G	A	134251719	3	1	217	1	0	0	0	0	1	0	0	0	3286	1291	45	2	432	2	CEP63	3	134251719	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	23420644	134251719	63770711	39	38624											
SOX14	8403	broad.mit.edu	37	chr3	137483941	137483941	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggcgacacggacccgctCaaggcggctggcctgcccgt	5	5	15	16	5	1	0	1	0	0	0	1	2	1	1	3	5	1	2	3	5	1	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:137483941C>G	ENST00000306087.1	+	1	363	c.315C>G	c.(313-315)ctC>ctG	p.L105L		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	105					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	p.L105L(1)		large_intestine(2)|lung(12)	14						CGGACCCGCTCAAGGCGGCTG	0.687													7	39					0	0	0	0	G	137483941	C	G	137483941	2	3	217	1	0	0	0	0	0	0	0	1	15033	813	29	2		2	SOX14	3	137483941	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08	3232222	137483941	60538489	40	38625											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	42					0	0	0	0	A	178936082	G	A	178936082	3	1	217	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	41452141	178936082	19086348	41	38626											
SLIT2	9353	broad.mit.edu	37	chr4	20611715	20611715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctctctttgtccgtggatGgtgggaaccccaaaatcatc	8	12	10	11	1	3	0	1	0	2	0	6	2	4	2	3	3	1	0	3	3	3	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:20611715G>T	ENST00000504154.1	+	34	4024	c.3772G>T	c.(3772-3774)Ggt>Tgt	p.G1258C	SLIT2_ENST00000503823.1_Missense_Mutation_p.G1250C|SLIT2_ENST00000273739.5_Missense_Mutation_p.G1271C|SLIT2_ENST00000503837.1_Missense_Mutation_p.G1254C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1258	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTCCGTGGATGGTGGGAACCC	0.433													8	54					0.00307968	0.00610387	1	0	T	20611715	G	T	20611715	3	4	217	1	0	0	0	0	1	0	0	0	14828	1348	47	4	3906	4	SLIT2	4	20611715	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08		20611715	170542561	42	38627											
C4orf19	55286	broad.mit.edu	37	chr4	37592483	37592483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccatgcctgtggttgactCaggaaacaggcaggaggata	11	8	14	8	0	1	1	1	1	0	0	1	4	1	4	2	5	3	2	2	5	2	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:37592483C>T	ENST00000284437.6	+	3	984	c.806C>T	c.(805-807)tCa>tTa	p.S269L	C4orf19_ENST00000508175.1_Intron|RELL1_ENST00000314117.4_3'UTR|C4orf19_ENST00000381980.4_Missense_Mutation_p.S269L	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	269										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GTGGTTGACTCAGGAAACAGG	0.522													10	96					0	0	0	0	T	37592483	C	T	37592483	3	4	217	1	0	0	0	0	1	0	0	0	2274	838	29	2	812	2	C4orf19	4	37592483	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	16980768	37592483	153561793	43	38628											
FRYL	285527	broad.mit.edu	37	chr4	48542543	48542543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacattttcaatcttctctCgactctctgatttatccaaa	10	17	3	11	1	4	1	1	1	3	0	8	2	5	1	1	0	1	1	1	0	4	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:48542543C>T	ENST00000537810.1	-	46	6726	c.6122G>A	c.(6121-6123)cGa>cAa	p.R2041Q	FRYL_ENST00000503238.1_Missense_Mutation_p.R2041Q|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.R2041Q			O94915	FRYL_HUMAN	FRY-like	2041					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.R2041Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AATCTTCTCTCGACTCTCTGA	0.378													13	49					0	0	0	0	T	48542543	C	T	48542543	3	4	217	1	0	0	0	0	1	0	0	0	6112	884	31	1	2995	1	FRYL	4	48542543	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	10950060	48542543	142611733	44	38629											
MAML3	55534	broad.mit.edu	37	chr4	140811123	140811123	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgctgctgctgctgctgTtgctgttgctgtttctgctg	0	18	13	10	0	1	0	0	0	1	0	1	0	1	0	0	0	9	12	0	0	0	3	rs62344939		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:140811123T>C	ENST00000509479.2	-	2	2323	c.1467A>G	c.(1465-1467)caA>caG	p.Q489Q	MAML3_ENST00000398940.1_Silent_p.Q28Q|MAML3_ENST00000327122.5_Silent_p.Q333Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	489	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgttgctgttgct	0.547													3	36					0	0	0	0	C	140811123	T	C	140811123	2	2	217	1	0	0	0	0	0	0	0	1	9276	1722	60	5		5	MAML3	4	140811123	Silent	SNP	T	TCGA-CR-7395-01A-11D-2012-08	92268580	140811123	50343153	45	38630											
GUCY1A3	2982	broad.mit.edu	37	chr4	156618130	156618130	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggcagcaggaagctcAgagagctgcaaagcaaccgt	14	3	15	9	1	1	1	1	0	0	1	1	5	1	3	1	3	6	6	1	3	3	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:156618130A>G	ENST00000296518.7	+	3	320	c.111A>G	c.(109-111)tcA>tcG	p.S37S	GUCY1A3_ENST00000506455.1_Silent_p.S37S|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511507.1_Silent_p.S37S|GUCY1A3_ENST00000511108.1_Silent_p.S37S|GUCY1A3_ENST00000513574.1_Silent_p.S37S|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000455639.2_Silent_p.S37S			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	37					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAGGAAGCTCAGAGAGCTGCA	0.493													6	51					0	0	0	0	G	156618130	A	G	156618130	2	3	217	1	0	0	0	0	0	0	0	1	6944	175	7	5		5	GUCY1A3	4	156618130	Silent	SNP	A	TCGA-CR-7395-01A-11D-2012-08	15807007	156618130	34536146	46	38631											
FAT1	2195	broad.mit.edu	37	chr4	187628809	187628809	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctggttttcctttacctGaataccagtcggaagagtgc	9	12	11	9	1	0	2	0	1	0	1	2	3	1	3	3	3	3	2	3	3	4	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:187628809G>A	ENST00000441802.2	-	2	2382	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	725	Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCTTTACCTGAATACCAGTC	0.443										HNSCC(5;0.00058)			9	45					0	0	0	0	A	187628809	G	A	187628809	4	1	217	1	0	0	0	0	0	1	0	0	5734	1299	45	2	11697	2	FAT1	4	187628809	Nonsense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	31010679	187628809	3525467	47	38632											
AGXT2	64902	broad.mit.edu	37	chr5	35037140	35037140	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgtatgccacaggcggccGagctgcttttgtgccactgc	5	11	12	13	2	0	0	0	0	0	0	0	1	0	0	3	2	5	3	3	2	1	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:35037140G>A	ENST00000231420.6	-	4	593	c.393C>T	c.(391-393)ctC>ctT	p.L131L		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	131					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACAGGCGGCCGAGCTGCTTTT	0.532													10	59					0	0	0	0	A	35037140	G	A	35037140	2	1	217	1	0	0	0	0	0	0	0	1	405	1045	37	1		1	AGXT2	5	35037140	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08		35037140	145878120	48	38633											
NUP155	9631	broad.mit.edu	37	chr5	37327823	37327823	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactcatatttgtggcctgAgttgctgggtttcccagagc	7	13	11	10	0	1	2	1	1	0	1	2	2	2	2	2	2	3	3	2	2	2	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:37327823A>C	ENST00000231498.3	-	18	2135	c.1932T>G	c.(1930-1932)acT>acG	p.T644T	NUP155_ENST00000513532.1_Silent_p.T644T|NUP155_ENST00000381843.2_Silent_p.T585T	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	644	Pro-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGTGGCCTGAGTTGCTGGGT	0.413													4	36					0	0	0	0	C	37327823	A	C	37327823	2	2	217	1	0	0	0	0	0	0	0	1	10827	291	11	5		5	NUP155	5	37327823	Silent	SNP	A	TCGA-CR-7395-01A-11D-2012-08	2290683	37327823	143587437	49	38634											
WDR70	55100	broad.mit.edu	37	chr5	37605304	37605304	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatagcagctgcctgccaGaatggaagcatacagatctg	12	8	10	11	0	2	2	1	0	1	2	2	3	2	3	2	1	6	3	2	1	4	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:37605304G>A	ENST00000265107.4	+	10	1212	c.1056G>A	c.(1054-1056)caG>caA	p.Q352Q	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Silent_p.Q352Q	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	352										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGCCTGCCAGAATGGAAGCA	0.413													7	34					0	0	0	0	A	37605304	G	A	37605304	2	1	217	1	0	0	0	0	0	0	0	1	17417	933	33	2		2	WDR70	5	37605304	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	277481	37605304	143309956	50	38635											
SERINC5	256987	broad.mit.edu	37	chr5	79473837	79473837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatcccaccagcttctcaCaggtgtcaccagctttaatg	11	11	6	13	0	2	0	2	0	1	0	4	0	3	0	3	1	2	2	3	1	3	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:79473837C>T	ENST00000507668.2	-	3	395	c.245G>A	c.(244-246)tGt>tAt	p.C82Y	SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000509193.1_Missense_Mutation_p.C82Y|SERINC5_ENST00000512721.1_Missense_Mutation_p.C82Y|SERINC5_ENST00000512972.2_Missense_Mutation_p.C82Y	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	82					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		CAGCTTCTCACAGGTGTCACC	0.398													4	11					0	0	0	0	T	79473837	C	T	79473837	3	4	217	1	0	0	0	0	1	0	0	0	14170	478	17	4	1218	4	SERINC5	5	79473837	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	41868533	79473837	101441423	51	38636											
ERAP2	64167	broad.mit.edu	37	chr5	96239261	96239261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgatgtgtttcagctagTtgggtaaggcaacatttcct	9	15	10	7	0	2	1	2	1	0	0	3	1	3	1	1	2	2	5	1	2	3	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:96239261T>C	ENST00000437043.3	+	13	2720	c.2009T>C	c.(2008-2010)gTt>gCt	p.V670A	ERAP2_ENST00000379904.4_Missense_Mutation_p.V625A|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	670					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTTCAGCTAGTTGGGTAAGGC	0.403													4	38					0	0	0	0	C	96239261	T	C	96239261	3	2	217	1	0	0	0	0	1	0	0	0	5242	1725	60	5	2055	5	ERAP2	5	96239261	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08	16765424	96239261	84675999	52	38637											
MEGF10	84466	broad.mit.edu	37	chr5	126784914	126784914	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggctacctcaacgagctcGgtgagttctcccaacgcacg	8	7	11	15	5	2	1	1	1	1	0	4	2	2	1	2	2	4	4	2	2	3	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:126784914G>A	ENST00000274473.6	+	23	3247	c.2980_splice	c.e23+1	p.G994_splice	MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Splice_Site_p.G994_splice	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	994	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAACGAGCTCGGTGAGTTCTC	0.532													4	77					0	0	0	0	A	126784914	G	A	126784914	5	1	217	1	0	0	0	0	0	0	1	0	9529	1130	39	1	3062	1	MEGF10	5	126784914	Splice_Site	SNP	G	TCGA-CR-7395-01A-11D-2012-08	30545653	126784914	54130346	53	38638											
PCDHA1	56147	broad.mit.edu	37	chr5	140166069	140166069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgcctcgcctgttccGggtggcgtccaaaacacaca	7	8	12	14	3	0	0	0	0	0	0	3	0	2	0	4	3	2	2	4	3	2	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:140166069G>A	ENST00000504120.2	+	1	194	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R65Q|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R65Q	NM_018900.2	NP_061723.1												p.R65L(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGTTCCGGGTGGCGTCC	0.587													17	105					0	0	0	0	A	140166069	G	A	140166069	3	1	217	1	0	0	0	0	1	0	0	0	11590	1116	39	1	196	1	PCDHA1	5	140166069	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	13381155	140166069	40749191	54	38639											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751849	140751849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgaggtgcgcacggcgCgtaccttgggcgacagggag	6	5	20	10	6	0	1	0	1	0	0	0	3	0	2	1	5	2	2	1	5	1	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:140751849C>T	ENST00000576222.1	+	1	2019	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACGGCGCGTACCTTGGG	0.662													11	98					0	0	0	0	T	140751849	C	T	140751849	3	4	217	1	0	0	0	0	1	0	0	0	11635	768	27	1	1890	1	PCDHGB3	5	140751849	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	585780	140751849	40163411	55	38640											
GPR151	134391	broad.mit.edu	37	chr5	145895392	145895392	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttggagtacgccgtagcTcggataggtgcagaaaacag	11	9	13	8	3	0	1	0	0	0	1	1	3	0	3	1	3	4	4	1	3	5	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:145895392T>C	ENST00000311104.2	-	1	361	c.285A>G	c.(283-285)cgA>cgG	p.R95R		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	95						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGCCGTAGCTCGGATAGGTG	0.502													11	68					0	0	0	0	C	145895392	T	C	145895392	2	2	217	1	0	0	0	0	0	0	0	1	6706	1538	54	5		5	GPR151	5	145895392	Silent	SNP	T	TCGA-CR-7395-01A-11D-2012-08	5143543	145895392	35019868	56	38641											
NSD1	64324	broad.mit.edu	37	chr5	176715829	176715829	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttatgcaggcactgaacTtaccttcaactacaacctag	12	11	5	13	0	2	1	1	1	1	0	2	1	2	1	2	1	6	2	2	1	7	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:176715829T>G	ENST00000439151.2	+	21	6206	c.6161T>G	c.(6160-6162)cTt>cGt	p.L2054R	NSD1_ENST00000361032.4_Missense_Mutation_p.L1951R|NSD1_ENST00000354179.4_Missense_Mutation_p.L1785R|NSD1_ENST00000347982.4_Missense_Mutation_p.L1785R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2054	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCACTGAACTTACCTTCAAC	0.393			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			4	86					0	0	0	0	G	176715829	T	G	176715829	3	3	217	1	0	0	0	0	1	0	0	0	10740	1609	56	5	6239	5	NSD1	5	176715829	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08	30820437	176715829	4199431	57	38642											
MAPK9	5601	broad.mit.edu	37	chr5	179676105	179676105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggatcttcagggtgcagtCtgatttcacaacaatgttgc	11	12	10	8	0	4	1	2	1	2	0	4	2	4	2	0	2	3	2	0	2	3	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:179676105C>G	ENST00000452135.2	-	6	782	c.484G>C	c.(484-486)Gac>Cac	p.D162H	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000343111.6_Missense_Mutation_p.D162H|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000539014.1_Missense_Mutation_p.D162H|MAPK9_ENST00000347470.4_Missense_Mutation_p.D162H|MAPK9_ENST00000425491.2_Missense_Mutation_p.D162H|MAPK9_ENST00000455781.1_Missense_Mutation_p.D162H|MAPK9_ENST00000393360.3_Missense_Mutation_p.D162H			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	162	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGGTGCAGTCTGATTTCACA	0.463													12	96					0	0	0	0	G	179676105	C	G	179676105	3	3	217	1	0	0	0	0	1	0	0	0	9356	913	32	2	940	2	MAPK9	5	179676105	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	2960276	179676105	1239155	58	38643											
CAP2	10486	broad.mit.edu	37	chr6	17551730	17551730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaacaatttccattaataaGacagaaggttgccacatata	17	10	5	9	0	0	2	0	0	0	2	1	2	1	2	3	1	2	1	3	1	7	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:17551730G>A	ENST00000229922.2	+	12	1777	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K	CAP2_ENST00000493172.1_Silent_p.K155K|CAP2_ENST00000489374.1_Silent_p.K303K|CAP2_ENST00000465994.1_Silent_p.K351K|CAP2_ENST00000378990.2_Silent_p.K389K	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	415	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CCATTAATAAGACAGAAGGTT	0.408													10	66					0	0	0	0	A	17551730	G	A	17551730	2	1	217	1	0	0	0	0	0	0	0	1	2645	933	33	2		2	CAP2	6	17551730	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08		17551730	153563337	59	38644											
NHLRC1	378884	broad.mit.edu	37	chr6	18121917	18121917	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcagcccaaaggtatcCacttggccgacaagctgcat	11	7	10	13	1	1	0	1	0	0	0	2	1	2	0	3	3	3	4	3	3	3	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:18121917C>T	ENST00000340650.3	-	1	934	c.921G>A	c.(919-921)gtG>gtA	p.V307V		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	307					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CAAAGGTATCCACTTGGCCGA	0.547													16	61					0	0	0	0	T	18121917	C	T	18121917	2	4	217	1	0	0	0	0	0	0	0	1	10475	581	21	4		4	NHLRC1	6	18121917	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08	570187	18121917	152993150	60	38645											
NHLRC1	378884	broad.mit.edu	37	chr6	18122747	18122747	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgccggtggccaaacttctCaaagcacaccttgcactcga	10	8	8	15	2	1	0	1	0	1	0	3	1	1	0	3	2	4	2	3	2	2	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:18122747C>G	ENST00000340650.3	-	1	104	c.91G>C	c.(91-93)Gag>Cag	p.E31Q		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	31					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CCAAACTTCTCAAAGCACACC	0.706													7	35					0	0	0	0	G	18122747	C	G	18122747	3	3	217	1	0	0	0	0	1	0	0	0	10475	835	29	2	1100	2	NHLRC1	6	18122747	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	830	18122747	152992320	61	38646											
KAAG1	353219	broad.mit.edu	37	chr6	24357946	24357946	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcacgacgggctgagaCaggtggctggacctggcgct	6	8	15	12	3	2	1	1	1	1	1	2	4	2	2	1	5	0	3	1	5	0	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:24357946C>T	ENST00000274766.1	+	1	816	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	DCDC2_ENST00000378454.3_Silent_p.L11L	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	27					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						CGGGCTGAGACAGGTGGCTGG	0.687													11	64					0	0	0	0	T	24357946	C	T	24357946	4	4	217	1	0	0	0	0	0	1	0	0	8026	479	17	4	81	4	KAAG1	6	24357946	Nonsense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	6235199	24357946	146757121	62	38647											
HLA-A	3105	broad.mit.edu	37	chr6	29910405	29910405	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacccagacctgggcgggTgagtgcggggtcgggaggga	6	5	21	9	3	0	3	0	2	0	1	1	5	0	5	2	6	1	0	2	6	0	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:29910405T>G	ENST00000396634.1	+	3	414		c.e3+2		HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376802.2_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site			P30443	1A01_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCTGGGCGGGTGAGTGCGGGG	0.736									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			11	45					0	0	0	0	G	29910405	T	G	29910405	5	3	217	1	0	0	0	0	0	0	1	0	7245	1710	59	5	77	5	HLA-A	6	29910405	Splice_Site	SNP	T	TCGA-CR-7395-01A-11D-2012-08	5552459	29910405	141204662	63	38648											
HLA-B	3106	broad.mit.edu	37	chr6	31323342	31323343	+	Frame_Shift_Ins	INS	-	-	G																															ctcatggtcagagatggggtINSggtgggtcacgtgtgtcttt																								rs80060802		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:31323342_31323343insG	ENST00000412585.2	-	4	674_675	c.646_647insC	c.(646-648)cccfs	p.P216fs		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGAGATGGGGTGGTGGGTCACG	0.584									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				24	195	---	---	---	---					G	31323343	-	G	31323342	7	5	217	1	0	1	1	0	0	0	0	0	7246	1696	59	0	457	0	HLA-B	6	31323342	Frame_Shift_Ins	INS	-	TCGA-CR-7395-01A-11D-2012-08	1412937	31323342	139791725	64	38649											
AGPAT1	10554	broad.mit.edu	37	chr6	32138238	32138238	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgggcgacctcagacatGacactgatggcatcccccgt	8	8	11	14	2	2	3	1	2	1	1	3	4	3	3	3	2	0	1	3	2	0	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:32138238G>A	ENST00000395499.1	-	4	1053	c.474C>T	c.(472-474)gtC>gtT	p.V158V	PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Silent_p.V158V|AGPAT1_ENST00000395497.1_Silent_p.V158V|AGPAT1_ENST00000375107.3_Silent_p.V158V|AGPAT1_ENST00000395496.1_Silent_p.V158V|AGPAT1_ENST00000412465.2_Silent_p.V46V|AGPAT1_ENST00000336984.6_Silent_p.V158V|AGPAT1_ENST00000490711.1_Intron			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	158					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CCTCAGACATGACACTGATGG	0.592													8	75					0	0	0	0	A	32138238	G	A	32138238	2	1	217	1	0	0	0	0	0	0	0	1	386	1277	45	2		2	AGPAT1	6	32138238	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	814896	32138238	138976829	65	38650											
SUPT3H	8464	broad.mit.edu	37	chr6	44988309	44988309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcgcatcaaaaacagaaGatcttcaggagtgattaccc	14	10	8	9	1	3	3	2	1	1	2	3	4	3	4	1	1	3	1	1	1	4	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:44988309G>A	ENST00000371460.1	-	6	597	c.280C>T	c.(280-282)Ctt>Ttt	p.L94F	SUPT3H_ENST00000371461.2_Missense_Mutation_p.L94F|SUPT3H_ENST00000371459.1_Missense_Mutation_p.L83F|SUPT3H_ENST00000306867.5_Missense_Mutation_p.L83F	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	165					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						AAAAACAGAAGATCTTCAGGA	0.328													4	32					0	0	0	0	A	44988309	G	A	44988309	3	1	217	1	0	0	0	0	1	0	0	0	15487	942	33	2	738	2	SUPT3H	6	44988309	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	12850071	44988309	126126758	66	38651											
DST	667	broad.mit.edu	37	chr6	56494093	56494094	+	Frame_Shift_Del	DEL	TG	TG	-																															tttgccacctttcaactaatTgatctgctttttctttgtgc																										TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:56494093_56494094delTG	ENST00000370754.5	-	31	4329_4330	c.4330_4331delCA	c.(4330-4332)afs	p.Q1444fs	DST_ENST00000312431.6_Frame_Shift_Del_p.Q1266fs|DST_ENST00000370769.4_Frame_Shift_Del_p.Q1266fs|DST_ENST00000370788.2_Frame_Shift_Del_p.Q1266fs|DST_ENST00000446842.2_Frame_Shift_Del_p.Q940fs|DST_ENST00000361203.3_Frame_Shift_Del_p.Q1266fs|DST_ENST00000518935.1_Frame_Shift_Del_p.Q940fs|DST_ENST00000370765.6_Frame_Shift_Del_p.Q940fs|DST_ENST00000244364.6_Frame_Shift_Del_p.Q940fs|DST_ENST00000421834.2_Frame_Shift_Del_p.Q1266fs			Q03001	DYST_HUMAN	dystonin	1266					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCAACTAATTGATCTGCTTTT	0.356													10	108	---	---	---	---					-	56494094	TG	-	56494093	7	5	217	1	0	1	0	1	0	0	0	0	4819	1812	63	0	17604	0	DST	6	56494093	Frame_Shift_Del	DEL	TG	TCGA-CR-7395-01A-11D-2012-08	11505784	56494093	114620974	67	38652											
PHIP	55023	broad.mit.edu	37	chr6	79668289	79668289	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtattatgctctatatatcGaacttcccacattagggaag	12	14	7	8	1	1	0	0	0	1	0	3	2	2	1	1	1	2	2	1	1	8	7			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:79668289G>A	ENST00000275034.4	-	32	3852	c.3685C>T	c.(3685-3687)Cga>Tga	p.R1229*	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1229	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCTATATATCGAACTTCCCAC	0.313													6	42					0	0	0	0	A	79668289	G	A	79668289	4	1	217	1	0	0	0	0	0	1	0	0	11914	1066	37	1	1816	1	PHIP	6	79668289	Nonsense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	23174196	79668289	91446778	68	38653											
DOPEY1	23033	broad.mit.edu	37	chr6	83841951	83841951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggacacctcagcatcaccaGaagagtgtggaactatttta	13	9	10	9	0	2	2	2	0	0	2	2	4	2	4	2	2	2	1	2	2	4	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:83841951G>A	ENST00000349129.2	+	18	2933	c.2673G>A	c.(2671-2673)caG>caA	p.Q891Q	DOPEY1_ENST00000369739.3_Silent_p.Q882Q|DOPEY1_ENST00000237163.5_Silent_p.Q872Q	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	891					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGCATCACCAGAAGAGTGTGG	0.373													5	82					0	0	0	0	A	83841951	G	A	83841951	2	1	217	1	0	0	0	0	0	0	0	1	4743	933	33	2		2	DOPEY1	6	83841951	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	4173662	83841951	87273116	69	38654											
HTR1E	3354	broad.mit.edu	37	chr6	87725377	87725377	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgacctgctgcacctgcTccatcctccacctctgtgtc	6	11	6	18	0	1	1	0	1	1	0	5	1	4	1	6	0	3	3	6	0	0	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:87725377T>C	ENST00000305344.4	+	2	1028	c.325T>C	c.(325-327)Tcc>Ccc	p.S109P	HTR1E_ENST00000369584.1_Missense_Mutation_p.S109P	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	109					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTGCACCTGCTCCATCCTCCA	0.562													10	89					0	0	0	0	C	87725377	T	C	87725377	3	2	217	1	0	0	0	0	1	0	0	0	7492	1551	54	5	327	5	HTR1E	6	87725377	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08	3883426	87725377	83389690	70	38655											
ZNF292	23036	broad.mit.edu	37	chr6	87971506	87971506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tataggtaaagccacaggcaGaggtcagtactgataattaa	16	9	10	6	0	1	2	1	1	0	1	1	2	1	2	1	3	2	3	1	3	7	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:87971506G>A	ENST00000369577.3	+	8	8202	c.8159G>A	c.(8158-8160)aGa>aAa	p.R2720K	ZNF292_ENST00000339907.4_Missense_Mutation_p.R2715K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCCACAGGCAGAGGTCAGTAC	0.318													4	33					0	0	0	0	A	87971506	G	A	87971506	3	1	217	1	0	0	0	0	1	0	0	0	17921	942	33	2	8189	2	ZNF292	6	87971506	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	246129	87971506	83143561	71	38656											
SOBP	55084	broad.mit.edu	37	chr6	107956508	107956508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcctatgctctgcggatGctgcccaagaccggctgcgt	6	9	12	14	3	1	1	0	0	1	1	1	2	1	2	3	2	6	3	3	2	2	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:107956508G>T	ENST00000317357.5	+	6	3119	c.2460G>T	c.(2458-2460)atG>atT	p.M820I	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	820							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCTGCGGATGCTGCCCAAGA	0.647													18	122					9.16793e-09	1.87623e-08	1	0	T	107956508	G	T	107956508	3	4	217	1	0	0	0	0	1	0	0	0	15000	1319	46	4	2482	4	SOBP	6	107956508	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	19985002	107956508	63158559	72	38657											
SYNJ2	8871	broad.mit.edu	37	chr6	158516741	158516741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcccctcctgtcgtgaCagcccctcgagtccctcctg	4	9	10	18	2	0	2	0	2	0	0	5	3	3	2	7	1	1	0	7	1	0	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:158516741C>T	ENST00000355585.4	+	27	3911	c.3836C>T	c.(3835-3837)aCa>aTa	p.T1279I	SYNJ2_ENST00000367112.1_Missense_Mutation_p.T364I|SYNJ2_ENST00000367122.2_Missense_Mutation_p.T1234I	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1279	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCTGTCGTGACAGCCCCTCGA	0.567													10	65					0	0	0	0	T	158516741	C	T	158516741	3	4	217	1	0	0	0	0	1	0	0	0	15544	478	17	4	3942	4	SYNJ2	6	158516741	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	50560233	158516741	12598326	73	38658											
LRRN3	54674	broad.mit.edu	37	chr7	110763864	110763864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgctgaacagcaatgctCtcagtgccctgtaccatggt	9	11	9	12	0	2	1	2	1	1	0	3	1	2	1	2	1	6	4	2	1	3	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:110763864C>T	ENST00000451085.1	+	4	2082	c.1036C>T	c.(1036-1038)Ctc>Ttc	p.L346F	IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.L346F|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L346F|IMMP2L_ENST00000405709.2_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	346						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CAGCAATGCTCTCAGTGCCCT	0.453													16	71					0	0	0	0	T	110763864	C	T	110763864	3	4	217	1	0	0	0	0	1	0	0	0	9100	913	32	2	1038	2	LRRN3	7	110763864	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08		110763864	48374799	74	38659											
FEZF1	389549	broad.mit.edu	37	chr7	121943818	121943818	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatgtaatgctgcagcTgagcctgggacaggtctttg	7	13	12	9	0	2	1	1	1	1	0	2	2	2	2	1	2	4	4	1	2	1	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:121943818T>G	ENST00000442488.2	-	1	741	c.674A>C	c.(673-675)cAg>cCg	p.Q225P	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.Q175P|FEZF1_ENST00000331178.4_Missense_Mutation_p.Q225P	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	225					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ATGCTGCAGCTGAGCCTGGGA	0.507													3	108					0	0	0	0	G	121943818	T	G	121943818	3	3	217	1	0	0	0	0	1	0	0	0	5870	1580	55	5	769	5	FEZF1	7	121943818	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08	11179954	121943818	37194845	75	38660											
PLXNA4	91584	broad.mit.edu	37	chr7	132192787	132192787	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcttaatcatcgaggccacGaactcatcatggaagacgta	14	9	8	10	3	4	1	3	0	1	1	5	4	4	2	1	2	1	1	1	2	4	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:132192787G>A	ENST00000359827.3	-	2	1628	c.666C>T	c.(664-666)ttC>ttT	p.F222F	PLXNA4_ENST00000321063.4_Silent_p.F222F|PLXNA4_ENST00000378539.5_Silent_p.F222F|PLXNA4_ENST00000423507.2_Silent_p.F222F			Q9HCM2	PLXA4_HUMAN	plexin A4	222	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCGAGGCCACGAACTCATCAT	0.488													7	102					0	0	0	0	A	132192787	G	A	132192787	2	1	217	1	0	0	0	0	0	0	0	1	12194	1049	37	1		1	PLXNA4	7	132192787	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	10248969	132192787	26945876	76	38661											
KIAA1549	57670	broad.mit.edu	37	chr7	138602131	138602131	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggaggtagtttcaatgaaAgctgaggtaaaatgagcttc	14	11	12	4	0	1	3	1	3	0	0	2	4	1	4	0	3	2	5	0	3	6	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:138602131A>G	ENST00000440172.1	-	2	2289	c.2241T>C	c.(2239-2241)gcT>gcC	p.A747A	KIAA1549_ENST00000242365.4_Silent_p.A697A|KIAA1549_ENST00000422774.1_Silent_p.A747A	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	747	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTTCAATGAAAGCTGAGGTAA	0.473			O	BRAF	pilocytic astrocytoma								7	38					0	0	0	0	G	138602131	A	G	138602131	2	3	217	1	0	0	0	0	0	0	0	1	8295	59	3	5		5	KIAA1549	7	138602131	Silent	SNP	A	TCGA-CR-7395-01A-11D-2012-08	6409344	138602131	20536532	77	38662											
GIMAP4	55303	broad.mit.edu	37	chr7	150269980	150269980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gataaagtggagcaggaaaaGagaaagaagcaaatggagaa	22	3	14	2	0	0	3	0	0	0	3	0	8	0	5	0	3	2	2	0	3	8	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:150269980G>C	ENST00000255945.2	+	3	997	c.822G>C	c.(820-822)aaG>aaC	p.K274N	GIMAP4_ENST00000461940.1_Missense_Mutation_p.K288N|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	274							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGGAAAAGAGAAAGAAGC	0.463													3	20					0	0	0	0	C	150269980	G	C	150269980	3	2	217	1	0	0	0	0	1	0	0	0	6432	933	33	2	828	2	GIMAP4	7	150269980	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	11667849	150269980	8868683	78	38663											
AGPAT5	55326	broad.mit.edu	37	chr8	6566210	6566210	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgctgctgtccctggtgctCcacacgtactccatgcgcta	6	11	9	15	2	0	0	0	0	0	0	3	0	3	0	3	1	5	5	3	1	2	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:6566210C>G	ENST00000285518.6	+	1	333	c.21C>G	c.(19-21)ctC>ctG	p.L7L		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	7					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		CCCTGGTGCTCCACACGTACT	0.726											OREG0007035	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=AGPAT5|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	3	23					0	0	0	0	G	6566210	C	G	6566210	2	3	217	1	0	0	0	0	0	0	0	1	390	842	30	2		2	AGPAT5	8	6566210	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08		6566210	139797812	79	38664											
EBF2	64641	broad.mit.edu	37	chr8	25902267	25902267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcgcggcgacattagcgtCcaccactccgacattccgga	8	7	10	16	6	0	0	0	0	0	0	3	3	3	1	4	2	2	0	4	2	1	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:25902267C>T	ENST00000520164.1	-	1	646	c.109G>A	c.(109-111)Gac>Aac	p.D37N		NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	37					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		ACATTAGCGTCCACCACTCCG	0.567													6	104					0	0	0	0	T	25902267	C	T	25902267	3	4	217	1	0	0	0	0	1	0	0	0	4917	855	30	2	1682	2	EBF2	8	25902267	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	19336057	25902267	120461755	80	38665											
ELP3	55140	broad.mit.edu	37	chr8	27995259	27995259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtcccgatgggctgaaactCtatcctaccctggtgattcg	7	11	10	13	3	1	2	0	2	1	0	4	3	3	2	3	2	2	1	3	2	3	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:27995259C>T	ENST00000256398.8	+	10	1328	c.951C>T	c.(949-951)ctC>ctT	p.L317L	ELP3_ENST00000542181.1_Silent_p.L188L|ELP3_ENST00000524103.1_Silent_p.L245L|ELP3_ENST00000380353.4_Silent_p.L225L|ELP3_ENST00000521015.1_Silent_p.L303L|ELP3_ENST00000537665.1_Silent_p.L198L	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	317					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GGCTGAAACTCTATCCTACCC	0.458													6	72					0	0	0	0	T	27995259	C	T	27995259	2	4	217	1	0	0	0	0	0	0	0	1	5119	900	32	2		2	ELP3	8	27995259	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08	2092992	27995259	118368763	81	38666											
RNF122	79845	broad.mit.edu	37	chr8	33408567	33408568	+	Frame_Shift_Ins	INS	-	-	T																															cctggcacacttaccccataINStaattgtaacttcttggcat																										TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:33408567_33408568insT	ENST00000256257.1	-	4	665_666	c.264_265insA	c.(262-267)ttatggfs	p.W89fs		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	89						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CTTACCCCATATAATTGTAACT	0.51													49	299	---	---	---	---					T	33408568	-	T	33408567	7	5	217	1	0	1	1	0	0	0	0	0	13517	449	16	0	214	0	RNF122	8	33408567	Frame_Shift_Ins	INS	-	TCGA-CR-7395-01A-11D-2012-08	5413308	33408567	112955455	82	38667											
ZFHX4	79776	broad.mit.edu	37	chr8	77761784	77761784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attgtaactacaatagtaggGaccaaagtcgtatccagatg	15	10	9	7	1	0	1	0	0	0	1	2	2	1	2	2	1	2	3	2	1	7	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:77761784G>A	ENST00000521891.2	+	8	4130	c.3682G>A	c.(3682-3684)Gac>Aac	p.D1228N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1183N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1183N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1202N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1183						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAATAGTAGGGACCAAAGTCG	0.413										HNSCC(33;0.089)			8	77					0	0	0	0	A	77761784	G	A	77761784	3	1	217	1	0	0	0	0	1	0	0	0	17730	1174	41	2	3708	2	ZFHX4	8	77761784	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	44353217	77761784	68602238	83	38668											
TAF1L	138474	broad.mit.edu	37	chr9	32633618	32633618	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttagcaaaggttggactgAatggggacctggctgagaga	11	9	15	6	0	0	3	0	2	0	1	0	6	0	5	1	5	1	3	1	5	3	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:32633618A>C	ENST00000242310.4	-	1	2049	c.1960T>G	c.(1960-1962)Tca>Gca	p.S654A	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	654					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGTTGGACTGAATGGGGACCT	0.498													5	136					0	0	0	0	C	32633618	A	C	32633618	3	2	217	1	0	0	0	0	1	0	0	0	15614	246	9	5	3524	5	TAF1L	9	32633618	Missense_Mutation	SNP	A	TCGA-CR-7395-01A-11D-2012-08		32633618	108579813	84	38669											
PRSS3	5646	broad.mit.edu	37	chr9	33798053	33798053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcactgagtgcctcatctccGgctggggcaacactctgagc	7	8	12	14	1	3	2	1	2	2	0	4	2	3	2	2	3	3	3	2	3	1	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:33798053G>A	ENST00000361005.5	+	3	598	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	PRSS3_ENST00000429677.3_Missense_Mutation_p.G136S|PRSS3_ENST00000379405.3_Missense_Mutation_p.G143S|PRSS3_ENST00000342836.4_Missense_Mutation_p.G157S|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	200	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCTCATCTCCGGCTGGGGCAA	0.567													5	102					0	0	0	0	A	33798053	G	A	33798053	3	1	217	1	0	0	0	0	1	0	0	0	12701	1116	39	1	652	1	PRSS3	9	33798053	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	1164435	33798053	107415378	85	38670											
FANCG	2189	broad.mit.edu	37	chr9	35074164	35074164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaggaaggcgtcacgatCagagggacggatccagctca	12	6	13	10	3	4	1	4	0	0	1	5	5	5	4	1	4	1	1	1	4	2	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:35074164C>T	ENST00000378643.3	-	14	2301	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N	FANCG_ENST00000476212.1_5'UTR	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	604					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCGTCACGATCAGAGGGACGG	0.517			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks					7	57					0	0	0	0	T	35074164	C	T	35074164	3	4	217	1	0	0	0	0	1	0	0	0	5713	826	29	2	62	2	FANCG	9	35074164	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	1276111	35074164	106139267	86	38671											
PTCH1	5727	broad.mit.edu	37	chr9	98209652	98209652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgctggccttgccgtcCgggaggcagggaccctgagt	4	7	18	12	2	0	1	0	1	0	0	1	3	1	3	4	5	2	3	4	5	0	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:98209652C>T	ENST00000430669.2	-	23	4273	c.3688G>A	c.(3688-3690)Gga>Aga	p.G1230R	PTCH1_ENST00000429896.2_Missense_Mutation_p.G1145R|PTCH1_ENST00000375274.2_Missense_Mutation_p.G1295R|PTCH1_ENST00000437951.1_Missense_Mutation_p.G1230R|PTCH1_ENST00000331920.6_Missense_Mutation_p.G1296R|PTCH1_ENST00000418258.1_Missense_Mutation_p.G1145R|PTCH1_ENST00000421141.1_Missense_Mutation_p.G1145R			Q13635	PTC1_HUMAN	patched 1	1296					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCTTGCCGTCCGGGAGGCAGG	0.652													17	92					0	0	0	0	T	98209652	C	T	98209652	3	4	217	1	0	0	0	0	1	0	0	0	12809	661	23	1	461	1	PTCH1	9	98209652	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	63135488	98209652	43003779	87	38672											
NCBP1	4686	broad.mit.edu	37	chr9	100425264	100425264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtcttcaaaaccctagctGaaagtgatgaaggaaagtta	17	9	9	6	0	2	3	1	3	1	0	2	4	2	4	1	1	2	2	1	1	8	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:100425264G>A	ENST00000375147.3	+	18	1988	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	578					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AACCCTAGCTGAAAGTGATGA	0.323													8	61					0	0	0	0	A	100425264	G	A	100425264	3	1	217	1	0	0	0	0	1	0	0	0	10281	1291	45	2	1802	2	NCBP1	9	100425264	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	2215612	100425264	40788167	88	38673											
ALDOB	229	broad.mit.edu	37	chr9	104187258	104187258	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggctttggtagagggcaaAggttgatagcattgaggttg	10	11	17	3	0	0	3	0	2	0	1	0	3	0	3	0	5	1	6	0	5	3	6	rs118204425		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:104187258A>C	ENST00000374855.4	-	8	990	c.866T>G	c.(865-867)cTt>cGt	p.L289R		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	289					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TAGAGGGCAAAGGTTGATAGC	0.522													3	66					0	0	0	0	C	104187258	A	C	104187258	3	2	217	1	0	0	0	0	1	0	0	0	508	72	3	5	236	5	ALDOB	9	104187258	Missense_Mutation	SNP	A	TCGA-CR-7395-01A-11D-2012-08	3761994	104187258	37026173	89	38674											
TTLL11	158135	broad.mit.edu	37	chr9	124751885	124751885	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcgataaggagaggtttGcagatgtactcctggaccac	10	11	12	8	1	0	2	0	0	0	2	2	5	1	3	2	3	2	3	2	3	2	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:124751885G>A	ENST00000321582.5	-	4	1315	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C	TTLL11_ENST00000373776.3_Silent_p.C376C|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	376	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GGAGAGGTTTGCAGATGTACT	0.493													14	106					0	0	0	0	A	124751885	G	A	124751885	2	1	217	1	0	0	0	0	0	0	0	1	16820	1311	46	4		4	TTLL11	9	124751885	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	20564627	124751885	16461546	90	38675											
CRAT	1384	broad.mit.edu	37	chr9	131864310	131864310	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgaggggtgtcccgtcActgtggtacacatccagctc	7	9	13	12	1	1	1	1	1	0	0	4	1	3	1	2	3	2	3	2	3	1	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:131864310A>G	ENST00000318080.2	-	6	951	c.657T>C	c.(655-657)agT>agC	p.S219S	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	219					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GTGTCCCGTCACTGTGGTACA	0.572													5	31					0	0	0	0	G	131864310	A	G	131864310	2	3	217	1	0	0	0	0	0	0	0	1	3877	156	6	5		5	CRAT	9	131864310	Silent	SNP	A	TCGA-CR-7395-01A-11D-2012-08	7112425	131864310	9349121	91	38676											
PMPCA	23203	broad.mit.edu	37	chr9	139316332	139316332	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatcaatgctcatgatgAacctggaatccaggcctgtg	11	10	10	10	0	2	3	2	3	0	0	3	4	3	4	3	2	2	1	3	2	3	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:139316332A>T	ENST00000371717.3	+	12	1321	c.1312A>T	c.(1312-1314)Aac>Tac	p.N438Y	PMPCA_ENST00000399219.3_Missense_Mutation_p.N307Y	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	438					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GCTCATGATGAACCTGGAATC	0.622													11	71					0	0	0	0	T	139316332	A	T	139316332	3	4	217	1	0	0	0	0	1	0	0	0	12212	246	9	5	1358	5	PMPCA	9	139316332	Missense_Mutation	SNP	A	TCGA-CR-7395-01A-11D-2012-08	7452022	139316332	1897099	92	38677											
NOTCH1	4851	broad.mit.edu	37	chr9	139392000	139392000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccgggcggccagaaacaggGgtgtctcctcctgggggatg	6	6	17	12	2	1	1	0	0	1	1	3	2	2	2	4	6	1	0	4	6	1	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:139392000G>A	ENST00000277541.6	-	34	6266	c.6191C>T	c.(6190-6192)cCc>cTc	p.P2064L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2064					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGAAACAGGGGTGTCTCCTC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			3	20					0	0	0	0	A	139392000	G	A	139392000	3	1	217	1	0	0	0	0	1	0	0	0	10617	1232	43	4	1480	4	NOTCH1	9	139392000	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	75668	139392000	1821431	93	38678											
DNAJC1	64215	broad.mit.edu	37	chr10	22048479	22048479	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgatcatgtcatcgggcaAggtggtggccgttttgatgg	6	12	17	6	2	2	2	2	2	0	0	3	2	2	2	1	6	0	2	1	6	1	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:22048479A>C	ENST00000376980.3	-	11	1506	c.1216T>G	c.(1216-1218)Ttg>Gtg	p.L406V	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	406					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TCATCGGGCAAGGTGGTGGCC	0.587													9	51					0	0	0	0	C	22048479	A	C	22048479	3	2	217	1	0	0	0	0	1	0	0	0	4664	69	3	5	456	5	DNAJC1	10	22048479	Missense_Mutation	SNP	A	TCGA-CR-7395-01A-11D-2012-08		22048479	113486268	94	38679											
MYO3A	53904	broad.mit.edu	37	chr10	26417382	26417382	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctttgaaaatttcaaaaAaaattccttcgagcagctgt	14	13	7	7	1	1	1	1	1	0	0	3	2	2	1	1	1	2	3	1	1	6	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:26417382A>C	ENST00000265944.5	+	20	2343	c.2177A>C	c.(2176-2178)aAa>aCa	p.K726T	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	726	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATTTCAAAAAAAATTCCTTC	0.338													6	47					0	0	0	0	C	26417382	A	C	26417382	3	2	217	1	0	0	0	0	1	0	0	0	10146	14	1	5	2247	5	MYO3A	10	26417382	Missense_Mutation	SNP	A	TCGA-CR-7395-01A-11D-2012-08	4368903	26417382	109117365	95	38680											
JMJD1C	221037	broad.mit.edu	37	chr10	64967812	64967812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgggtgaaatactggtGctctatgtaatgcaggcata	10	13	13	5	0	1	1	0	1	1	0	1	1	1	1	0	4	3	4	0	4	5	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:64967812G>A	ENST00000399262.2	-	10	3835	c.3617C>T	c.(3616-3618)gCa>gTa	p.A1206V	JMJD1C_ENST00000399251.1_Missense_Mutation_p.A987V|JMJD1C_ENST00000542921.1_Missense_Mutation_p.A1024V|JMJD1C_ENST00000402544.1_Missense_Mutation_p.A987V	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1206					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATACTGGTGCTCTATGTAA	0.438													21	99					0	0	0	0	A	64967812	G	A	64967812	3	1	217	1	0	0	0	0	1	0	0	0	8003	1319	46	4	4073	4	JMJD1C	10	64967812	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	38550430	64967812	70566935	96	38681											
STAMBPL1	57559	broad.mit.edu	37	chr10	90665380	90665380	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtatttggaagaaggaaatTtggaaaatgcctttgttctt	12	16	10	3	0	1	1	0	0	1	1	1	4	1	4	1	3	1	2	1	3	6	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:90665380T>A	ENST00000371927.3	+	3	1169	c.211T>A	c.(211-213)Ttg>Atg	p.L71M	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.L71M|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.L71M			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	71							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGAAGGAAATTTGGAAAATGC	0.338													9	43					0	0	0	0	A	90665380	T	A	90665380	3	1	217	1	0	0	0	0	1	0	0	0	15341	1838	64	5	217	5	STAMBPL1	10	90665380	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08	25697568	90665380	44869367	97	38682											
LIPA	3988	broad.mit.edu	37	chr10	91005441	91005441	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttcccatacctttgtcaGaatggttcttcctcccatga	7	14	6	14	0	2	2	1	1	1	1	5	2	5	2	5	1	1	1	5	1	2	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:91005441G>C	ENST00000336233.5	-	3	543	c.221C>G	c.(220-222)tCt>tGt	p.S74C	LIPA_ENST00000456827.1_Missense_Mutation_p.S74C|LIPA_ENST00000371837.1_Intron			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	74					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		ACCTTTGTCAGAATGGTTCTT	0.383													11	91					0	0	0	0	C	91005441	G	C	91005441	3	2	217	1	0	0	0	0	1	0	0	0	8874	942	33	2	1010	2	LIPA	10	91005441	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	340061	91005441	44529306	98	38683											
ZNF518A	9849	broad.mit.edu	37	chr10	97917735	97917735	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgagaaaagtgtatcttcTttgtcagcaacatcagaatt	14	14	7	6	0	4	2	2	1	2	2	4	3	4	2	0	0	2	2	0	0	6	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:97917735T>C	ENST00000534948.1	+	0	2513							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GTGTATCTTCTTTGTCAGCAA	0.338													7	72					0	0	0	0	C	97917735	T	C	97917735	1	2	217	0	1	0	0	0	0	0	0	0	18057	1596	56	5		5	ZNF518A	10	97917735	RNA	SNP	T	TCGA-CR-7395-01A-11D-2012-08	6912294	97917735	37617012	99	38684											
PDCD11	22984	broad.mit.edu	37	chr10	105205279	105205279	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggccctggagtatgtggaGgccaagagctcagtgctaga	11	7	15	8	0	1	2	1	0	0	2	1	4	1	4	2	4	2	3	2	4	4	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:105205279G>A	ENST00000369797.3	+	36	5683	c.5589G>A	c.(5587-5589)gaG>gaA	p.E1863E		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1863					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGTATGTGGAGGCCAAGAGCT	0.597													7	51					0	0	0	0	A	105205279	G	A	105205279	2	1	217	1	0	0	0	0	0	0	0	1	11688	991	35	4		4	PDCD11	10	105205279	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	7287544	105205279	30329468	100	38685											
CPXM2	119587	broad.mit.edu	37	chr10	125530458	125530458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgctccccagggtgatctGagatctccacagcatacagc	10	8	9	14	0	2	2	0	2	2	1	4	3	3	2	3	1	4	2	3	1	1	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:125530458G>A	ENST00000241305.3	-	8	1230	c.1076C>T	c.(1075-1077)tCa>tTa	p.S359L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	359					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGGGTGATCTGAGATCTCCAC	0.478													38	258					0	0	0	0	A	125530458	G	A	125530458	3	1	217	1	0	0	0	0	1	0	0	0	3868	1294	45	2	1222	2	CPXM2	10	125530458	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	20325179	125530458	10004289	101	38686											
GPR123	84435	broad.mit.edu	37	chr10	134942326	134942326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacgcccaccccgcacttGacgccaacggggccgcgctg	7	3	13	18	6	0	1	0	1	0	0	0	2	0	2	5	3	1	2	5	3	1	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:134942326G>A	ENST00000607359.1	+	16	3151	c.3151G>A	c.(3151-3153)Gac>Aac	p.D1051N	GPR123_ENST00000392606.2_Missense_Mutation_p.D235N|GPR123_ENST00000392607.3_Missense_Mutation_p.D332N			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	332						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCCCGCACTTGACGCCAACGG	0.731													8	37					0	0	0	0	A	134942326	G	A	134942326	3	1	217	1	0	0	0	0	1	0	0	0	6686	1290	45	2	1016	2	GPR123	10	134942326	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	9411868	134942326	592421	102	38687											
HRAS	3265	broad.mit.edu	37	chr11	534288	534288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcactcttgcccacaccgCcggcgcccaccaccaccagc	7	3	8	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	1	7	1	0	1	rs104894230		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:534288C>T	ENST00000417302.1	-	2	222	c.35G>A	c.(34-36)gGc>gAc	p.G12D	HRAS_ENST00000397594.1_Missense_Mutation_p.G12D|HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000451590.1_Missense_Mutation_p.G12D|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			5	40					0	0	0	0	T	534288	C	T	534288	3	4	217	1	0	0	0	0	1	0	0	0	7398	739	26	4	617	4	HRAS	11	534288	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08		534288	134472228	103	38688											
OR51A2	401667	broad.mit.edu	37	chr11	4976514	4976514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatactatccctatttgggCaactctgacagttgtcagga	11	12	9	9	0	2	1	1	1	1	0	3	3	3	2	1	2	2	2	1	2	5	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:4976514C>T	ENST00000380371.1	-	1	429	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTATTTGGGCAACTCTGACA	0.423													34	121					0	0	0	0	T	4976514	C	T	4976514	3	4	217	1	0	0	0	0	1	0	0	0	11157	710	25	4	513	4	OR51A2	11	4976514	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	4442226	4976514	130030002	104	38689											
OR8J3	81168	broad.mit.edu	37	chr11	55904603	55904603	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgcagatataaagactaTtgtttctggtatgtaagtat	12	16	9	4	0	1	2	0	0	1	2	1	2	1	2	0	1	2	6	0	1	7	8			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:55904603T>C	ENST00000301529.1	-	1	591	c.592A>G	c.(592-594)Ata>Gta	p.I198V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATAAAGACTATTGTTTCTGGT	0.318													12	81					0	0	0	0	C	55904603	T	C	55904603	3	2	217	1	0	0	0	0	1	0	0	0	11313	1493	52	5	357	5	OR8J3	11	55904603	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08	50928089	55904603	79101913	105	38690											
OR8H1	219469	broad.mit.edu	37	chr11	56058468	56058468	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtataaagagggccatcTggacctcttcagaatctgac	13	10	9	9	0	4	3	1	1	3	2	4	4	4	4	2	2	0	1	2	2	5	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:56058468T>G	ENST00000313022.2	-	1	98	c.71A>C	c.(70-72)cAg>cCg	p.Q24P		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAGGGCCATCTGGACCTCTTC	0.423													8	96					0	0	0	0	G	56058468	T	G	56058468	3	3	217	1	0	0	0	0	1	0	0	0	11308	1580	55	5	866	5	OR8H1	11	56058468	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08	153865	56058468	78948048	106	38691											
ATM	472	broad.mit.edu	37	chr11	108121428	108121428	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctttttttttttttttagGctacagattgcaacccaatt	8	21	4	8	0	0	1	0	0	0	1	1	1	1	1	2	1	3	2	2	1	4	11	rs79220522		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:108121428G>C	ENST00000278616.4	+	10	1621	c.1235_splice	c.e10-1	p.W412_splice	ATM_ENST00000452508.2_Splice_Site_p.W412_splice	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	412					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTTTTTTAGGCTACAGATTG	0.318			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			6	32					0	0	0	0	C	108121428	G	C	108121428	5	2	217	1	0	0	0	0	0	0	1	0	1113	1217	42	4	1270	4	ATM	11	108121428	Splice_Site	SNP	G	TCGA-CR-7395-01A-11D-2012-08	52062960	108121428	26885088	107	38692											
IGSF9B	22997	broad.mit.edu	37	chr11	133791272	133791272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgcggatgctctcggggCtcaccttgccagaggacaag	7	7	15	12	3	2	1	1	0	1	1	3	3	2	3	2	4	3	2	2	4	1	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:133791272C>T	ENST00000321016.8	-	18	2578	c.2348G>A	c.(2347-2349)aGc>aAc	p.S783N	IGSF9B_ENST00000533871.2_Missense_Mutation_p.S783N			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	783						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTCTCGGGGCTCACCTTGCC	0.662													3	15					0	0	0	0	T	133791272	C	T	133791272	3	4	217	1	0	0	0	0	1	0	0	0	7659	797	28	4	1709	4	IGSF9B	11	133791272	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	25669844	133791272	1215244	108	38693											
DCP1B	196513	broad.mit.edu	37	chr12	2061959	2061959	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggagctctgctgcggtTcagggcagctgagctggcag	6	8	18	9	1	2	1	1	1	1	0	2	2	2	2	0	4	5	7	0	4	0	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:2061959T>G	ENST00000280665.6	-	7	1226	c.1147A>C	c.(1147-1149)Aac>Cac	p.N383H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.N257H|DCP1B_ENST00000397173.4_Missense_Mutation_p.N281H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	383					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CTGCTGCGGTTCAGGGCAGCT	0.572													19	67					0	0	0	0	G	2061959	T	G	2061959	3	3	217	1	0	0	0	0	1	0	0	0	4331	1783	62	5	718	5	DCP1B	12	2061959	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08		2061959	131789936	109	38694											
RAD51AP1	10635	broad.mit.edu	37	chr12	4668097	4668097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcccaatcagagtctcCgccttggcttgtccagatta	8	12	8	13	1	3	2	1	0	2	2	6	2	4	2	4	1	0	1	4	1	2	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:4668097C>T	ENST00000228843.9	+	10	1047	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	RAD51AP1_ENST00000544927.1_3'UTR|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.R316C|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.R214C|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.R283C	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	333	Interaction with RAD51.				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCAGAGTCTCCGCCTTGGCTT	0.498													8	89					0	0	0	0	T	4668097	C	T	4668097	3	4	217	1	0	0	0	0	1	0	0	0	13068	652	23	1	1035	1	RAD51AP1	12	4668097	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	2606138	4668097	129183798	110	38695											
CD163	9332	broad.mit.edu	37	chr12	7639106	7639106	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataatttacctgagcagataActcccgcatcctccttgtgc	10	12	6	13	1	0	2	0	1	0	1	3	2	3	2	4	0	4	2	4	0	3	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:7639106A>C	ENST00000359156.4	-	10	2649	c.2447T>G	c.(2446-2448)gTt>gGt	p.V816G	CD163_ENST00000396620.3_Missense_Mutation_p.V849G|CD163_ENST00000432237.2_Missense_Mutation_p.V816G|CD163_ENST00000541972.1_Missense_Mutation_p.V804G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	816	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGAGCAGATAACTCCCGCATC	0.443													4	130					0	0	0	0	C	7639106	A	C	7639106	3	2	217	1	0	0	0	0	1	0	0	0	2996	43	2	5	1051	5	CD163	12	7639106	Missense_Mutation	SNP	A	TCGA-CR-7395-01A-11D-2012-08	2971009	7639106	126212789	111	38696											
ARID2	196528	broad.mit.edu	37	chr12	46233280	46233280	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatgtagcatctgccccagGttagtgttttcacatattct	8	16	7	10	0	4	0	2	0	2	0	4	0	4	0	2	1	2	4	2	1	3	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:46233280G>A	ENST00000334344.6	+	11	1670		c.e11+1		ARID2_ENST00000422737.1_Splice_Site|ARID2_ENST00000444670.1_Splice_Site|ARID2_ENST00000479608.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTGCCCCAGGTTAGTGTTTT	0.373			"N, S, F"		hepatocellular carcinoma								14	77					0	0	0	0	A	46233280	G	A	46233280	5	1	217	1	0	0	0	0	0	0	1	0	917	1275	44	4	1541	4	ARID2	12	46233280	Splice_Site	SNP	G	TCGA-CR-7395-01A-11D-2012-08	38594174	46233280	87618615	112	38697											
ARID2	196528	broad.mit.edu	37	chr12	46285669	46285669	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggttgtgagccttttcagCgacagcggttttcttttatt	7	17	10	7	2	2	1	1	1	1	0	2	2	2	1	1	2	3	2	1	2	2	8			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:46285669C>T	ENST00000334344.6	+	17	5201	c.5029C>T	c.(5029-5031)Cga>Tga	p.R1677*	ARID2_ENST00000457135.1_Nonsense_Mutation_p.R285*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R1528*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R1287*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1677					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCTTTTCAGCGACAGCGGTT	0.413			"N, S, F"		hepatocellular carcinoma								9	92					0	0	0	0	T	46285669	C	T	46285669	4	4	217	1	0	0	0	0	0	1	0	0	917	760	27	1	5095	1	ARID2	12	46285669	Nonsense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	52389	46285669	87566226	113	38698											
POU6F1	5463	broad.mit.edu	37	chr12	51584078	51584078	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggtgttcttgagcgtctgGcgccgattgcagaaccagac	7	10	13	11	3	2	3	0	1	2	2	2	4	2	3	2	2	3	2	2	2	1	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:51584078G>A	ENST00000389243.4	-	11	1797	c.858C>T	c.(856-858)cgC>cgT	p.R286R	POU6F1_ENST00000550824.1_Silent_p.R286R|POU6F1_ENST00000333640.10_Silent_p.R286R			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	286					brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TGAGCGTCTGGCGCCGATTGC	0.552													11	71					0	0	0	0	A	51584078	G	A	51584078	2	1	217	1	0	0	0	0	0	0	0	1	12355	1190	42	4		4	POU6F1	12	51584078	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	5298409	51584078	82267817	114	38699											
GALNT6	11226	broad.mit.edu	37	chr12	51752036	51752036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgttccgaaatgtcacCgaaggatttctgtcaatcaa	12	11	8	10	3	4	0	3	0	1	0	6	3	5	1	2	1	0	1	2	1	4	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:51752036C>A	ENST00000543196.2	-	8	1583	c.1378G>T	c.(1378-1380)Ggt>Tgt	p.G460C	GALNT6_ENST00000356317.3_Missense_Mutation_p.G460C			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	460					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GAAATGTCACCGAAGGATTTC	0.473													10	89					2.80697e-09	5.77135e-09	1	0	A	51752036	C	A	51752036	3	1	217	1	0	0	0	0	1	0	0	0	6266	652	23	3	506	3	GALNT6	12	51752036	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	167958	51752036	82099859	115	38700											
KRT83	3889	broad.mit.edu	37	chr12	52709762	52709762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttcatcacctcctggtactCcctgatcaggcaggccatgt	7	11	9	14	0	3	1	3	1	0	0	5	1	5	1	4	3	1	3	4	3	1	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:52709762C>T	ENST00000293670.3	-	7	1239	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	AC121757.1_ENST00000594763.1_Intron	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	393	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTGGTACTCCCTGATCAGG	0.647													9	123					0	0	0	0	T	52709762	C	T	52709762	3	4	217	1	0	0	0	0	1	0	0	0	8549	864	30	2	316	2	KRT83	12	52709762	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	957726	52709762	81142133	116	38701											
KCNC2	3747	broad.mit.edu	37	chr12	75601707	75601707	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgctgcggtaggtttcGtgccgggtgcccccgacatt	4	10	16	11	4	0	0	0	0	0	0	1	1	0	0	3	4	4	3	3	4	1	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:75601707G>A	ENST00000549446.1	-	2	737	c.57C>T	c.(55-57)caC>caT	p.H19H	KCNC2_ENST00000550433.1_Silent_p.H19H|KCNC2_ENST00000350228.2_Silent_p.H19H|KCNC2_ENST00000341669.3_Silent_p.H19H|KCNC2_ENST00000548513.1_Silent_p.H19H|KCNC2_ENST00000393288.2_Silent_p.H19H|KCNC2_ENST00000540018.1_Silent_p.H19H|KCNC2_ENST00000298972.1_Silent_p.H19H	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	19					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GGTAGGTTTCGTGCCGGGTGC	0.632													5	65					0	0	0	0	A	75601707	G	A	75601707	2	1	217	1	0	0	0	0	0	0	0	1	8068	1136	40	1		1	KCNC2	12	75601707	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	22891945	75601707	58250188	117	38702											
MYBPC1	4604	broad.mit.edu	37	chr12	102064158	102064158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctatatccgcagagttggaGaagctgtcaatctggttata	11	12	10	8	1	2	2	1	0	1	2	3	3	3	2	2	2	1	4	2	2	6	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:102064158G>A	ENST00000549145.1	+	24	2702	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	MYBPC1_ENST00000536007.1_Missense_Mutation_p.E818K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E862K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E738K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E862K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E855K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E824K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E855K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E823K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E825K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E811K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E837K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E855K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E855K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E837K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	855	Ig-like C2-type 6.				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						CAGAGTTGGAGAAGCTGTCAA	0.443													15	129					0	0	0	0	A	102064158	G	A	102064158	3	1	217	1	0	0	0	0	1	0	0	0	10081	943	33	2	2736	2	MYBPC1	12	102064158	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	26462451	102064158	31787737	118	38703											
PAH	5053	broad.mit.edu	37	chr12	103288646	103288646	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaattcatactcatctttCtttaaacgagaaggtctaga	16	13	5	7	1	5	2	2	0	3	2	5	3	5	2	0	1	2	0	0	1	7	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:103288646C>T	ENST00000553106.1	-	3	691	c.219G>A	c.(217-219)aaG>aaA	p.K73K	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Silent_p.K68K	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	73	ACT.				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ACTCATCTTTCTTTAAACGAG	0.443													14	57					0	0	0	0	T	103288646	C	T	103288646	2	4	217	1	0	0	0	0	0	0	0	1	11465	912	32	2		2	PAH	12	103288646	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08	1224488	103288646	30563249	119	38704											
PARP4	143	broad.mit.edu	37	chr13	25049615	25049615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagacaacatacctgggCtacagtgtctatgattctcc	11	10	7	13	0	2	2	0	1	2	1	3	2	2	2	3	1	3	1	3	1	4	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:25049615C>T	ENST00000381989.3	-	15	2014	c.1909G>A	c.(1909-1911)Gcc>Acc	p.A637T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	637	VIT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CATACCTGGGCTACAGTGTCT	0.458													13	69					0	0	0	0	T	25049615	C	T	25049615	3	4	217	1	0	0	0	0	1	0	0	0	11534	797	28	4	3345	4	PARP4	13	25049615	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08		25049615	90120263	120	38705											
FREM2	341640	broad.mit.edu	37	chr13	39264178	39264178	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacataaaacagggccgAgtttcctatgcccataatgg	13	8	11	9	1	0	0	0	0	0	0	1	3	1	1	3	3	2	1	3	3	4	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:39264178A>G	ENST00000280481.7	+	1	2913	c.2697A>G	c.(2695-2697)cgA>cgG	p.R899R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	899					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGGGCCGAGTTTCCTATG	0.512													4	36					0	0	0	0	G	39264178	A	G	39264178	2	3	217	1	0	0	0	0	0	0	0	1	6093	291	11	5		5	FREM2	13	39264178	Silent	SNP	A	TCGA-CR-7395-01A-11D-2012-08	14214563	39264178	75905700	121	38706											
HNRNPA1L2	144983	broad.mit.edu	37	chr13	53217120	53217120	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgtggataagattgtcattCagaaataccatactgtgaag	14	11	9	7	1	2	3	2	1	0	2	2	4	2	4	2	1	2	0	2	1	5	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:53217120C>G	ENST00000342657.3	+	7	1566	c.493C>G	c.(493-495)Cag>Gag	p.Q165E	HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.Q165E|HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.Q165E	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	165	Globular B domain.|RRM 2.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						GATTGTCATTCAGAAATACCA	0.468													7	63					0	0	0	0	G	53217120	C	G	53217120	3	3	217	1	0	0	0	0	1	0	0	0	7308	827	29	2	495	2	HNRNPA1L2	13	53217120	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	13952942	53217120	61952758	122	38707											
TBC1D4	9882	broad.mit.edu	37	chr13	75911119	75911119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctttatttttcagaatgtCaagtttgaaccttccactgc	10	16	6	9	0	2	2	2	1	0	1	3	2	3	2	2	0	3	2	2	0	4	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:75911119C>T	ENST00000377636.3	-	8	2015	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	TBC1D4_ENST00000377625.2_Missense_Mutation_p.D557N|TBC1D4_ENST00000431480.2_Missense_Mutation_p.D557N|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	557						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTCAGAATGTCAAGTTTGAAC	0.333													8	42					0	0	0	0	T	75911119	C	T	75911119	3	4	217	1	0	0	0	0	1	0	0	0	15716	826	29	2	2283	2	TBC1D4	13	75911119	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	22693999	75911119	39258759	123	38708											
OR4K5	79317	broad.mit.edu	37	chr14	20389087	20389087	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctttattcacctttttActggaggggagatggtgcta	7	18	10	6	0	2	1	1	0	1	1	2	3	2	2	1	4	2	1	1	4	3	9			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:20389087A>C	ENST00000315915.4	+	1	347	c.322A>C	c.(322-324)Act>Cct	p.T108P		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACCTTTTTACTGGAGGGGA	0.428													18	241					0	0	0	0	C	20389087	A	C	20389087	3	2	217	1	0	0	0	0	1	0	0	0	11144	391	14	5	324	5	OR4K5	14	20389087	Missense_Mutation	SNP	A	TCGA-CR-7395-01A-11D-2012-08		20389087	86960453	124	38709											
OR4L1	122742	broad.mit.edu	37	chr14	20529070	20529070	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatccgagtatttataccctGagaaataagaaaatgcaaga	19	9	7	6	1	0	3	0	1	0	3	1	5	1	3	2	0	2	2	2	0	9	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:20529070G>A	ENST00000315683.1	+	1	867	c.867G>A	c.(865-867)ctG>ctA	p.L289L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTATACCCTGAGAAATAAGA	0.328													12	71					0	0	0	0	A	20529070	G	A	20529070	2	1	217	1	0	0	0	0	0	0	0	1	11145	1277	45	2		2	OR4L1	14	20529070	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	139983	20529070	86820470	125	38710											
ADCY4	196883	broad.mit.edu	37	chr14	24795367	24795367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctagtccccggggggtacGgctcctgcacagtgagagcc	7	7	14	13	2	1	1	0	1	1	1	3	2	3	1	4	4	3	3	4	4	2	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:24795367G>A	ENST00000310677.4	-	13	1686	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C	ADCY4_ENST00000554068.2_Missense_Mutation_p.R525C|ADCY4_ENST00000418030.2_Missense_Mutation_p.R525C|ADCY4_ENST00000396747.3_Missense_Mutation_p.R218C	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	525					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	p.R525C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGGGGGGTACGGCTCCTGCAC	0.587													8	48					0	0	0	0	A	24795367	G	A	24795367	3	1	217	1	0	0	0	0	1	0	0	0	296	1116	39	1	1716	1	ADCY4	14	24795367	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	4266297	24795367	82554173	126	38711											
RALGAPA1	253959	broad.mit.edu	37	chr14	36039926	36039926	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccattcacaatagcaccatCaaaaaggggaccaaagaagg	18	5	8	10	0	2	1	2	0	0	1	3	2	3	2	3	3	1	1	3	3	6	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:36039926C>G	ENST00000258840.6	-	39	6406	c.6016G>C	c.(6016-6018)Gat>Cat	p.D2006H	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1972H|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D1959H|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1959H			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1959	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATAGCACCATCAAAAAGGGGA	0.363													3	24					0	0	0	0	G	36039926	C	G	36039926	3	3	217	1	0	0	0	0	1	0	0	0	13095	826	29	2	400	2	RALGAPA1	14	36039926	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	11244559	36039926	71309614	127	38712											
PPP4R4	57718	broad.mit.edu	37	chr14	94693666	94693666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatccagagagtatggatctCacatatgtttgtccagaggg	11	12	11	7	0	1	2	1	0	1	2	4	4	3	3	2	2	0	2	2	2	3	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:94693666C>T	ENST00000328839.3	+	4	466	c.338C>T	c.(337-339)tCa>tTa	p.S113L	PPP4R4_ENST00000304338.3_Intron|PPP4R4_ENST00000555690.1_3'UTR	NM_020958.2	NP_066009.2	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	0						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GTATGGATCTCACATATGTTT	0.378													5	32					0	0	0	0	T	94693666	C	T	94693666	3	4	217	1	0	0	0	0	1	0	0	0	12481	838	29	2	352	2	PPP4R4	14	94693666	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	58653740	94693666	12655874	128	38713											
PAPOLA	10914	broad.mit.edu	37	chr14	96994296	96994296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactttccttataggctgttGaagaggcattcgtaccagtt	9	15	9	8	1	0	2	0	1	0	1	2	2	1	2	2	2	2	5	2	2	5	8			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:96994296G>A	ENST00000216277.8	+	6	668	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E150K|PAPOLA_ENST00000557320.1_Missense_Mutation_p.E150K|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000557471.1_Missense_Mutation_p.E150K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	150					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ATAGGCTGTTGAAGAGGCATT	0.353													24	100					0	0	0	0	A	96994296	G	A	96994296	3	1	217	1	0	0	0	0	1	0	0	0	11500	1291	45	2	470	2	PAPOLA	14	96994296	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	2300630	96994296	10355244	129	38714											
MTA1	9112	broad.mit.edu	37	chr14	105916417	105916417	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaatagaagaggaaatggaGaacccggaaatggtggacct	17	5	14	5	1	0	3	0	0	0	3	0	8	0	6	2	5	1	0	2	5	6	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:105916417G>A	ENST00000331320.7	+	5	478	c.264G>A	c.(262-264)gaG>gaA	p.E88E	MTA1_ENST00000406191.1_Silent_p.E88E|MTA1_ENST00000405646.1_Silent_p.E71E	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	88	BAH.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AGGAAATGGAGAACCCGGAAA	0.627													10	66					0	0	0	0	A	105916417	G	A	105916417	2	1	217	1	0	0	0	0	0	0	0	1	9978	933	33	2		2	MTA1	14	105916417	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	8922121	105916417	1433123	130	38715											
MTA1	9112	broad.mit.edu	37	chr14	105927207	105927207	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctgcagggacgagatggagGagtggtctgcatcagaggcc	9	7	17	8	1	3	2	1	0	2	2	3	6	3	5	1	5	2	2	1	5	0	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:105927207G>C	ENST00000331320.7	+	10	1073	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	MTA1_ENST00000406191.1_Missense_Mutation_p.E287Q|MTA1_ENST00000405646.1_Missense_Mutation_p.E270Q	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	287	SANT.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CGAGATGGAGGAGTGGTCTGC	0.562													4	118					0	0	0	0	C	105927207	G	C	105927207	3	2	217	1	0	0	0	0	1	0	0	0	9978	1175	41	2	897	2	MTA1	14	105927207	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	10790	105927207	1422333	131	38716											
GABRB3	2562	broad.mit.edu	37	chr15	26806250	26806250	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtacatgtcaatggctttGacataggggattttgggcaa	11	12	13	5	0	1	1	1	1	0	0	1	2	1	2	0	5	1	3	0	5	4	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:26806250G>C	ENST00000541819.2	-	9	1179	c.1077C>G	c.(1075-1077)gtC>gtG	p.V359V	GABRB3_ENST00000545868.1_Silent_p.V218V|GABRB3_ENST00000400188.3_Silent_p.V232V|GABRB3_ENST00000299267.4_Silent_p.V303V|GABRB3_ENST00000311550.5_Silent_p.V303V			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	303					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	CAATGGCTTTGACATAGGGGA	0.478													13	94					0	0	0	0	C	26806250	G	C	26806250	2	2	217	1	0	0	0	0	0	0	0	1	6216	1277	45	2		2	GABRB3	15	26806250	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08		26806250	75725142	132	38717											
C15orf52	388115	broad.mit.edu	37	chr15	40630982	40630982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatggtcacagccagctcCaccagctcccctaagcagaa	11	6	7	17	0	1	1	1	0	0	1	4	1	4	1	6	1	4	3	6	1	2	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:40630982C>T	ENST00000559313.1	-	4	501	c.486G>A	c.(484-486)gtG>gtA	p.V162V		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	162										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CAGCCAGCTCCACCAGCTCCC	0.607													11	50					0	0	0	0	T	40630982	C	T	40630982	2	4	217	1	0	0	0	0	0	0	0	1	1812	581	21	4		4	C15orf52	15	40630982	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08	13824732	40630982	61900410	133	38718											
EXD1	161829	broad.mit.edu	37	chr15	41476415	41476415	+	Missense_Mutation	SNP	T	T	A																															tctgagttattctctggtccTctgacccctttgactttgtg																										TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:41476415T>A	ENST00000314992.5	-	10	1449	c.1259A>T	c.(1258-1260)gAg>gTg	p.E420V	EXD1_ENST00000458580.2_Missense_Mutation_p.E478V	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	420					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TCTCTGGTCCTCTGACCCCTT	0.418													21	137					0	0	0	0	A	41476415	T	A	41476415	3	1	217	1	0	0	0	0	1	0	0	0	5334	1551	54	5	289	5	EXD1	15	41476415	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08	845433	41476415	61054977	134	38719	291	2									
EXD1	161829	broad.mit.edu	37	chr15	41476416	41476416	+	Missense_Mutation	SNP	C	C	T																															ctgagttattctctggtcctCtgacccctttgactttgtgc																										TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:41476416C>T	ENST00000314992.5	-	10	1448	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	EXD1_ENST00000458580.2_Missense_Mutation_p.E478K	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	420					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CTCTGGTCCTCTGACCCCTTT	0.413													21	137					0	0	0	0	T	41476416	C	T	41476416	3	4	217	1	0	0	0	0	1	0	0	0	5334	922	32	2	290	2	EXD1	15	41476416	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	1	41476416	61054976	135	38720	291	2									
NMB	4828	broad.mit.edu	37	chr15	85201312	85201312	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatcccagctgagcggggcGacgccggcagcgagcagggc	8	2	18	13	5	0	2	0	1	0	1	1	4	1	2	2	4	4	3	2	4	0	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:85201312G>A	ENST00000394588.3	-	1	482	c.72C>T	c.(70-72)gtC>gtT	p.V24V	NMB_ENST00000360476.3_Silent_p.V24V	NM_021077.3|NM_205858.1	NP_066563.2|NP_995580.1	P08949	NMB_HUMAN	neuromedin B	24					cell-cell signaling|neuropeptide signaling pathway	extracellular region|soluble fraction	hormone activity			endometrium(1)	1				all cancers(203;3.5e-06)		TGAGCGGGGCGACGCCGGCAG	0.726													5	17					0	0	0	0	A	85201312	G	A	85201312	2	1	217	1	0	0	0	0	0	0	0	1	10556	1045	37	1		1	NMB	15	85201312	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	43724896	85201312	17330080	136	38721											
MAN2A2	4122	broad.mit.edu	37	chr15	91448552	91448552	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggagaaccatgagattatCagccatatcaaggactccgt	14	8	10	9	1	2	2	2	1	0	2	3	6	3	3	3	2	2	0	3	2	4	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:91448552C>T	ENST00000360468.3	+	2	222	c.204C>T	c.(202-204)atC>atT	p.I68I	MAN2A2_ENST00000559717.1_Silent_p.I68I	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	68					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGAGATTATCAGCCATATCA	0.552													11	107					0	0	0	0	T	91448552	C	T	91448552	2	4	217	1	0	0	0	0	0	0	0	1	9284	816	29	2		2	MAN2A2	15	91448552	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08	6247240	91448552	11082840	137	38722											
SPSB3	90864	broad.mit.edu	37	chr16	1831369	1831369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaacctacctgcccatcaGagtcgtagccccagttagtg	9	9	10	13	1	1	1	1	0	0	1	2	2	1	2	5	1	4	2	5	1	4	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:1831369G>A	ENST00000566339.1	-	2	446	c.116C>T	c.(115-117)tCt>tTt	p.S39F	SPSB3_ENST00000301717.4_Missense_Mutation_p.S39F	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	39					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CTGCCCATCAGAGTCGTAGCC	0.642													6	59					0	0	0	0	A	1831369	G	A	1831369	3	1	217	1	0	0	0	0	1	0	0	0	15204	942	33	2	975	2	SPSB3	16	1831369	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08		1831369	88523384	138	38723											
MPV17L	255027	broad.mit.edu	37	chr16	15501680	15501680	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttttttcccaattccaGagtggactgatgtactggcc	7	17	8	9	0	0	2	0	1	0	1	2	3	2	3	3	2	1	1	3	2	2	7	rs144408494		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:15501680G>A	ENST00000287594.6	+	2	454		c.e2-1		MPV17L_ENST00000396385.3_Splice_Site|RP11-1021N1.1_ENST00000568222.1_Intron	NM_173803.3	NP_776164.2	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like							integral to membrane|peroxisomal membrane				kidney(2)|large_intestine(1)|skin(1)	4						CCCAATTCCAGAGTGGACTGA	0.368													6	37					0	0	0	0	A	15501680	G	A	15501680	5	1	217	1	0	0	0	0	0	0	1	0	9816	956	33	2	391	2	MPV17L	16	15501680	Splice_Site	SNP	G	TCGA-CR-7395-01A-11D-2012-08	13670311	15501680	74853073	139	38724											
ABCC6	368	broad.mit.edu	37	chr16	16302657	16302657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcttctgaggagttttctCtcccaagcgaccagaggtct	7	13	10	11	1	4	2	0	1	4	1	6	4	5	3	2	2	1	2	2	2	1	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:16302657C>T	ENST00000205557.7	-	7	751	c.722G>A	c.(721-723)aGa>aAa	p.R241K	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	241					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGAGTTTTCTCTCCCAAGCGA	0.552													6	58					0	0	0	0	T	16302657	C	T	16302657	3	4	217	1	0	0	0	0	1	0	0	0	57	913	32	2	3889	2	ABCC6	16	16302657	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	800977	16302657	74052096	140	38725											
POLR3E	55718	broad.mit.edu	37	chr16	22320755	22320755	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctgtgctccaggaagctGatggacaagcagaccttctg	9	9	11	12	0	1	2	0	1	1	1	3	4	3	4	3	2	3	3	3	2	2	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:22320755G>A	ENST00000299853.5	+	6	455	c.288G>A	c.(286-288)ctG>ctA	p.L96L	POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000418581.2_Silent_p.L60L|POLR3E_ENST00000359210.4_Silent_p.L96L|POLR3E_ENST00000564209.1_Silent_p.L96L	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	96					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCAGGAAGCTGATGGACAAGC	0.617													39	291					0	0	0	0	A	22320755	G	A	22320755	2	1	217	1	0	0	0	0	0	0	0	1	12304	1277	45	2		2	POLR3E	16	22320755	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	6018098	22320755	68033998	141	38726											
HS3ST2	9956	broad.mit.edu	37	chr16	22926538	22926538	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatccgcatcggcatgtaCgtgctgcacctggagagctg	7	8	13	13	3	0	1	0	0	0	1	2	2	1	1	3	2	4	6	3	2	1	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:22926538C>G	ENST00000261374.3	+	2	1193	c.759C>G	c.(757-759)taC>taG	p.Y253*		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	253						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCGGCATGTACGTGCTGCACC	0.632													13	134					0	0	0	0	G	22926538	C	G	22926538	4	3	217	1	0	0	0	0	0	1	0	0	7414	547	19	3	765	3	HS3ST2	16	22926538	Nonsense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	605783	22926538	67428215	142	38727											
SRCAP	10847	broad.mit.edu	37	chr16	30723672	30723672	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggttaccatgtatgagaaGaagcttaatggcattcttgc	11	13	10	7	0	1	2	0	1	1	2	1	3	1	2	1	2	3	4	1	2	5	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:30723672G>A	ENST00000262518.4	+	13	2290	c.1905G>A	c.(1903-1905)aaG>aaA	p.K635K	SRCAP_ENST00000395059.2_Silent_p.K635K|SRCAP_ENST00000344771.4_Silent_p.K635K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	635	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGTATGAGAAGAAGCTTAATG	0.532													11	95					0	0	0	0	A	30723672	G	A	30723672	2	1	217	1	0	0	0	0	0	0	0	1	15225	933	33	2		2	SRCAP	16	30723672	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	7797134	30723672	59631081	143	38728											
CPNE2	221184	broad.mit.edu	37	chr16	57157367	57157370	+	Frame_Shift_Del	DEL	CTGC	CTGC	-																															cttgactacatcctgggaggCtgccagctcatgttcaccgt																										TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:57157367_57157370delCTGC	ENST00000535318.2	+	11	1270_1273	c.909_912delCTGC	c.(907-912)ggfs	p.GC303fs	CPNE2_ENST00000537605.1_Frame_Shift_Del_p.GC201fs|CPNE2_ENST00000565874.1_Frame_Shift_Del_p.GC303fs|CPNE2_ENST00000290776.8_Frame_Shift_Del_p.GC303fs			Q96FN4	CPNE2_HUMAN	copine II	303										central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TCCTGGGAGGCTGCCAGCTCATGT	0.593													9	84	---	---	---	---					-	57157370	CTGC	-	57157367	7	5	217	1	0	1	0	1	0	0	0	0	3842	784	28	0	943	0	CPNE2	16	57157367	Frame_Shift_Del	DEL	CTGC	TCGA-CR-7395-01A-11D-2012-08	26433695	57157367	33197386	144	38729											
NOB1	28987	broad.mit.edu	37	chr16	69788590	69788590	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgtcccgaatctcagTgaccacctcccggatggtgt	6	10	11	14	2	1	1	1	1	1	0	4	3	3	2	5	3	0	0	5	3	1	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:69788590T>C	ENST00000268802.5	-	2	132	c.103A>G	c.(103-105)Act>Gct	p.T35A		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	35	PINc.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGAATCTCAGTGACCACCTCC	0.632													5	36					0	0	0	0	C	69788590	T	C	69788590	3	2	217	1	0	0	0	0	1	0	0	0	10581	1696	59	5	1167	5	NOB1	16	69788590	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08	12631223	69788590	20566163	145	38730											
PHLPP2	23035	broad.mit.edu	37	chr16	71683624	71683624	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccacaggacctgggagggtGagcccattcatttcacaagt	10	8	11	12	0	2	1	2	1	0	0	2	3	2	3	3	3	1	0	3	3	1	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:71683624G>A	ENST00000393524.2	-	17	3673	c.2940C>T	c.(2938-2940)ctC>ctT	p.L980L	PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Silent_p.L1047L|PHLPP2_ENST00000568954.1_Silent_p.L1047L|PHLPP2_ENST00000567016.1_Silent_p.L1082L|PHLPP2_ENST00000540628.1_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1047	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTGGGAGGGTGAGCCCATTCA	0.512													19	153					0	0	0	0	A	71683624	G	A	71683624	2	1	217	1	0	0	0	0	0	0	0	1	11927	1277	45	2		2	PHLPP2	16	71683624	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	1895034	71683624	18671129	146	38731											
DHX38	9785	broad.mit.edu	37	chr16	72137934	72137934	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcctgctccgagagtccctCcgggaagccgacctggatca	8	7	11	15	3	1	1	1	0	0	1	5	5	5	3	6	2	2	1	6	2	1	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:72137934C>T	ENST00000268482.3	+	14	2423	c.1914C>T	c.(1912-1914)ctC>ctT	p.L638L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	638	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GAGAGTCCCTCCGGGAAGCCG	0.577													9	87					0	0	0	0	T	72137934	C	T	72137934	2	4	217	1	0	0	0	0	0	0	0	1	4548	842	30	2		2	DHX38	16	72137934	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08	454310	72137934	18216819	147	38732											
PLCG2	5336	broad.mit.edu	37	chr16	81929467	81929467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atctaccatggctggacgcgGactaccaagatcaagtttga	12	9	10	10	2	2	2	1	1	1	1	2	4	2	4	2	3	2	2	2	3	4	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:81929467G>A	ENST00000359376.3	+	13	1342	c.1128G>A	c.(1126-1128)cgG>cgA	p.R376R		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	376	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCTGGACGCGGACTACCAAGA	0.557													16	96					0	0	0	0	A	81929467	G	A	81929467	2	1	217	1	0	0	0	0	0	0	0	1	12108	1161	41	2		2	PLCG2	16	81929467	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	9791533	81929467	8425286	148	38733											
C17orf85	55421	broad.mit.edu	37	chr17	3724646	3724646	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgggaatgatatcttcgcttCctgcaagaatgccaaaataa	14	10	8	9	2	1	2	0	1	1	1	3	3	2	3	2	1	2	2	2	1	7	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:3724646C>T	ENST00000158149.3	-	10	952	c.56_splice	c.e10-1	p.W19_splice	C17orf85_ENST00000389005.4_Splice_Site_p.W299_splice			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	299							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATCTTCGCTTCCTGCAAGAAT	0.413													8	82					0	0	0	0	T	3724646	C	T	3724646	5	4	217	1	0	0	0	0	0	0	1	0	1904	869	30	2	985	2	C17orf85	17	3724646	Splice_Site	SNP	C	TCGA-CR-7395-01A-11D-2012-08		3724646	77470564	149	38734											
KIAA0753	9851	broad.mit.edu	37	chr17	6483153	6483153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagttcagcagccacagcacCcagagcttcatctaccagct	12	7	7	15	0	3	1	2	0	1	1	3	1	3	1	3	0	6	5	3	0	2	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:6483153C>G	ENST00000361413.3	-	19	3176	c.2818G>C	c.(2818-2820)Ggt>Cgt	p.G940R	KIAA0753_ENST00000589033.1_Missense_Mutation_p.G396R|KIAA0753_ENST00000572370.1_Missense_Mutation_p.G641R|KIAA0753_ENST00000542606.1_Missense_Mutation_p.G641R	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	940						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCCACAGCACCCAGAGCTTCA	0.493													10	95					0	0	0	0	G	6483153	C	G	6483153	3	3	217	1	0	0	0	0	1	0	0	0	8242	623	22	4	89	4	KIAA0753	17	6483153	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	2758507	6483153	74712057	150	38735											
DNAH2	146754	broad.mit.edu	37	chr17	7695575	7695575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatgccctccttaggacacGgtatatgagtattttgtgga	10	13	10	8	1	0	1	0	1	0	0	1	3	1	3	2	3	1	2	2	3	4	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:7695575G>A	ENST00000572933.1	+	46	8519	c.7059G>A	c.(7057-7059)acG>acA	p.T2353T	DNAH2_ENST00000389173.2_Silent_p.T2353T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2353					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTTAGGACACGGTATATGAGT	0.532													10	98					0	0	0	0	A	7695575	G	A	7695575	2	1	217	1	0	0	0	0	0	0	0	1	4639	1103	39	1		1	DNAH2	17	7695575	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	1212422	7695575	73499635	151	38736											
NCOR1	9611	broad.mit.edu	37	chr17	16005052	16005052	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattttcaggactgtcctcGctgggcttgacagcttcaac	7	12	10	12	1	2	1	2	1	0	0	4	2	3	2	1	2	2	4	1	2	1	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:16005052G>A	ENST00000268712.3	-	20	2459	c.2202C>T	c.(2200-2202)agC>agT	p.S734S	NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Silent_p.S641S|NCOR1_ENST00000395851.1_Silent_p.S750S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	734					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACTGTCCTCGCTGGGCTTGA	0.463													13	67					0	0	0	0	A	16005052	G	A	16005052	2	1	217	1	0	0	0	0	0	0	0	1	10305	1078	38	1		1	NCOR1	17	16005052	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	8309477	16005052	65190158	152	38737											
FAM83G	644815	broad.mit.edu	37	chr17	18874772	18874772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttaggtgcttcgactgaGacagtttggagtatgggatt	8	14	13	6	1	0	1	0	1	0	1	1	5	0	3	1	3	1	3	1	3	2	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:18874772G>A	ENST00000388995.6	-	6	2595	c.2372C>T	c.(2371-2373)tCt>tTt	p.S791F	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.S791F|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.S791F			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	791										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTTCGACTGAGACAGTTTGGA	0.632													24	153					0	0	0	0	A	18874772	G	A	18874772	3	1	217	1	0	0	0	0	1	0	0	0	5685	942	33	2	103	2	FAM83G	17	18874772	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	2869720	18874772	62320438	153	38738											
KIAA0100	9703	broad.mit.edu	37	chr17	26961608	26961608	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaatccctcagggggaaaAgggctgcctggatcaagctc	10	8	12	11	0	3	0	2	0	1	0	5	2	4	2	2	4	2	2	2	4	4	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P|KIAA0100_ENST00000544884.1_Silent_p.P856P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	999						extracellular region		p.P999P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493													3	131					0	0	0	0	G	26961608	A	G	26961608	2	3	217	1	0	0	0	0	0	0	0	1	8205	59	3	5		5	KIAA0100	17	26961608	Silent	SNP	A	TCGA-CR-7395-01A-11D-2012-08	8086836	26961608	54233602	154	38739											
KRT27	342574	broad.mit.edu	37	chr17	38933275	38933275	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagacaccctctgttcattCttgttgttgactttggtgga	7	16	10	8	0	3	2	1	1	2	1	3	4	3	3	1	2	0	3	1	2	1	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:38933275C>G	ENST00000301656.3	-	8	1396	c.1356G>C	c.(1354-1356)aaG>aaC	p.K452N	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	452	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCTGTTCATTCTTGTTGTTGA	0.433													14	55					0	0	0	0	G	38933275	C	G	38933275	3	3	217	1	0	0	0	0	1	0	0	0	8516	912	32	2	27	2	KRT27	17	38933275	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	11971667	38933275	42261935	155	38740											
AKAP1	8165	broad.mit.edu	37	chr17	55183032	55183032	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtcccaaagtagtgtcCacaccccccagtgtcacaga	10	8	8	15	0	2	1	1	0	1	1	4	1	4	1	5	0	0	1	5	0	2	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:55183032C>T	ENST00000337714.3	+	2	440	c.207C>T	c.(205-207)tcC>tcT	p.S69S	AKAP1_ENST00000314126.3_Silent_p.S69S|AKAP1_ENST00000572557.1_Silent_p.S69S|AKAP1_ENST00000539273.1_Silent_p.S69S|AKAP1_ENST00000571629.1_Silent_p.S69S	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	69					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AAGTAGTGTCCACACCCCCCA	0.602													10	45					0	0	0	0	T	55183032	C	T	55183032	2	4	217	1	0	0	0	0	0	0	0	1	445	581	21	4		4	AKAP1	17	55183032	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08	16249757	55183032	26012178	156	38741											
AXIN2	8313	broad.mit.edu	37	chr17	63533163	63533163	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccattgcgtttgggcaaGgtactgcctctgctgccgct	4	13	11	13	2	1	0	0	0	1	0	2	0	2	0	3	2	5	5	3	2	2	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:63533163G>A	ENST00000307078.5	-	7	2044	c.1731C>T	c.(1729-1731)acC>acT	p.T577T	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	577				Missing (in Ref. 2; AAF22799).	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GTTTGGGCAAGGTACTGCCTC	0.652									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				5	19					0	0	0	0	A	63533163	G	A	63533163	2	1	217	1	0	0	0	0	0	0	0	1	1241	987	35	4		4	AXIN2	17	63533163	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	8350131	63533163	17662047	157	38742											
GALR2	8811	broad.mit.edu	37	chr17	74071008	74071008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggaacgcgagccaggCgggcggcgggggaggctggc	5	1	24	11	6	0	0	0	0	0	0	0	3	0	2	2	9	2	1	2	9	1	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:74071008C>T	ENST00000329003.3	+	1	134	c.44C>T	c.(43-45)gCg>gTg	p.A15V		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	15					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCGAGCCAGGCGGGCGGCGGG	0.741													3	7					0	0	0	0	T	74071008	C	T	74071008	3	4	217	1	0	0	0	0	1	0	0	0	6277	768	27	1	46	1	GALR2	17	74071008	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	10537845	74071008	7124202	158	38743											
DNAH17	8632	broad.mit.edu	37	chr17	76539977	76539977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcactccagcatccctgaCtgctgcgtagcgcttgttga	6	12	9	14	2	1	2	1	2	0	0	3	2	3	2	2	0	4	5	2	0	1	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:76539977C>T	ENST00000389840.5	-	17	2618	c.2494G>A	c.(2494-2496)Gtc>Atc	p.V832I	DNAH17_ENST00000585328.1_Missense_Mutation_p.V832I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCATCCCTGACTGCTGCGTAG	0.498													28	196					0	0	0	0	T	76539977	C	T	76539977	3	4	217	1	0	0	0	0	1	0	0	0	4638	565	20	4	11154	4	DNAH17	17	76539977	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	2468969	76539977	4655233	159	38744											
CCDC40	55036	broad.mit.edu	37	chr17	78023899	78023899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagccgagcccagcggcagGagctgggggtgaatctctat	9	6	16	10	2	1	2	0	1	1	1	2	4	1	3	2	4	4	2	2	4	2	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:78023899G>A	ENST00000397545.4	+	7	1003	c.976G>A	c.(976-978)Gag>Aag	p.E326K	CCDC40_ENST00000269318.5_Missense_Mutation_p.E326K|CCDC40_ENST00000374876.4_Missense_Mutation_p.E326K|CCDC40_ENST00000374877.3_Missense_Mutation_p.E326K	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	326					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCAGCGGCAGGAGCTGGGGGT	0.622													5	36					0	0	0	0	A	78023899	G	A	78023899	3	1	217	1	0	0	0	0	1	0	0	0	2838	1175	41	2	1002	2	CCDC40	17	78023899	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	1483922	78023899	3171311	160	38745											
SLC38A10	124565	broad.mit.edu	37	chr17	79226904	79226904	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatcgagctgtgcctcctcCggtgcctccttgccatcttc	3	12	9	17	3	1	0	0	0	1	0	6	2	4	0	6	1	4	1	6	1	0	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:79226904C>T	ENST00000374759.3	-	12	1808	c.1425G>A	c.(1423-1425)ccG>ccA	p.P475P	SLC38A10_ENST00000288439.5_Silent_p.P475P	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	475					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTGCCTCCTCCGGTGCCTCCT	0.682											OREG0024813	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	118					0	0	0	0	T	79226904	C	T	79226904	2	4	217	1	0	0	0	0	0	0	0	1	14690	639	23	1		1	SLC38A10	17	79226904	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08	1203005	79226904	1968306	161	38746											
CETN1	1068	broad.mit.edu	37	chr18	580651	580651	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggacagggaaggcacGgggaagatcagcttcaatga	13	5	17	6	1	2	2	2	1	0	1	2	6	2	5	0	6	1	2	0	6	3	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:580651G>T	ENST00000327228.3	+	1	285	c.243G>T	c.(241-243)acG>acT	p.T81T		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	81	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGGAAGGCACGGGGAAGATCA	0.537													5	52					3.59834e-05	7.19667e-05	1	0	T	580651	G	T	580651	2	4	217	1	0	0	0	0	0	0	0	1	3303	1103	39	3		3	CETN1	18	580651	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08		580651	77496597	162	38747											
EPB41L3	23136	broad.mit.edu	37	chr18	5419910	5419910	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaatccttcatgtatatttCatggttttcattcactgatg	10	18	6	7	0	4	2	4	1	0	1	5	2	5	2	1	1	0	2	1	1	3	7			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:5419910C>G	ENST00000540638.2	-	12	1739	c.1360G>C	c.(1360-1362)Gaa>Caa	p.E454Q	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E454Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E454Q|EPB41L3_ENST00000342933.3_Intron|EPB41L3_ENST00000341928.2_Intron			Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	446	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATGTATATTTCATGGTTTTCA	0.373													10	78					0	0	0	0	G	5419910	C	G	5419910	3	3	217	1	0	0	0	0	1	0	0	0	5192	841	29	2		2	EPB41L3	18	5419910	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	4839259	5419910	72657338	163	38748											
KCTD1	284252	broad.mit.edu	37	chr18	24081097	24081097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtacatgtggccgcccacatCaatgtggacaggcgcattgg	9	8	13	11	2	1	0	1	0	0	0	1	1	1	1	2	4	1	2	2	4	2	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:24081097C>G	ENST00000417602.1	-	2	1926	c.1927G>C	c.(1927-1929)Gat>Cat	p.D643H	KCTD1_ENST00000580059.1_Missense_Mutation_p.D35H|KCTD1_ENST00000579973.1_Missense_Mutation_p.D35H|KCTD1_ENST00000408011.3_Missense_Mutation_p.D35H|KCTD1_ENST00000317932.7_Missense_Mutation_p.D35H	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	35					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CCGCCCACATCAATGTGGACA	0.507													6	109					0	0	0	0	G	24081097	C	G	24081097	3	3	217	1	0	0	0	0	1	0	0	0	8149	826	29	2	686	2	KCTD1	18	24081097	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	18661187	24081097	53996151	164	38749											
DSG1	1828	broad.mit.edu	37	chr18	28914090	28914090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggcagtaattttctttatCtctggaaatgaaggaaattg	13	15	9	4	0	2	1	0	1	2	0	3	3	2	3	0	3	0	2	0	3	5	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:28914090C>G	ENST00000257192.4	+	8	1142	c.930C>G	c.(928-930)atC>atG	p.I310M		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	310	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTTTCTTTATCTCTGGAAATG	0.294													9	71					0	0	0	0	G	28914090	C	G	28914090	3	3	217	1	0	0	0	0	1	0	0	0	4812	903	32	2	960	2	DSG1	18	28914090	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	4832993	28914090	49163158	165	38750											
CDH20	28316	broad.mit.edu	37	chr18	59221475	59221475	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccggaaacaaccatacatCatcgacgacgaggaaaacat	18	4	7	12	4	1	0	1	0	0	0	2	5	1	2	2	2	4	0	2	2	5	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:59221475C>A	ENST00000262717.4	+	12	2351	c.1953C>A	c.(1951-1953)atC>atA	p.I651I	CDH20_ENST00000538374.1_Silent_p.I651I|CDH20_ENST00000536675.2_Silent_p.I651I			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	651					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AACCATACATCATCGACGACG	0.567													12	110					9.05144e-12	1.86978e-11	1	0	A	59221475	C	A	59221475	2	1	217	1	0	0	0	0	0	0	0	1	3135	816	29	2		2	CDH20	18	59221475	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08	30307385	59221475	18855773	166	38751											
AP3D1	8943	broad.mit.edu	37	chr19	2121736	2121736	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggacagagggcacgcaccatCccatagagcaggtccagggc	11	3	14	13	1	0	2	0	0	0	2	2	3	2	3	3	4	1	3	3	4	1	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:2121736C>T	ENST00000355272.6	-	12	1304	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	AP3D1_ENST00000356926.4_Silent_p.G275G|AP3D1_ENST00000350812.6_Silent_p.G197G|AP3D1_ENST00000345016.5_Silent_p.G366G|AP3D1_ENST00000590683.1_5'UTR	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	366					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CACGCACCATCCCATAGAGCA	0.637													8	57					0	0	0	0	T	2121736	C	T	2121736	2	4	217	1	0	0	0	0	0	0	0	1	747	842	30	2		2	AP3D1	19	2121736	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08		2121736	57007247	167	38752											
ZNF440	126070	broad.mit.edu	37	chr19	11943309	11943309	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagatatgtgaataaccttCaaagtcatgaaaggacacaa	18	9	7	7	0	3	3	3	2	0	1	3	4	3	4	1	1	1	0	1	1	6	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:11943309C>T	ENST00000304060.5	+	4	1482	c.1318C>T	c.(1318-1320)Caa>Taa	p.Q440*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q440*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAATAACCTTCAAAGTCATGA	0.398													8	51					0	0	0	0	T	11943309	C	T	11943309	4	4	217	1	0	0	0	0	0	1	0	0	18008	827	29	2	1332	2	ZNF440	19	11943309	Nonsense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	9821573	11943309	47185674	168	38753											
IL27RA	9466	broad.mit.edu	37	chr19	14161619	14161619	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccttccttggggtccCtgtgagctgtgggtgacagc	4	11	14	12	0	0	3	0	3	0	0	2	3	2	3	4	3	2	1	4	3	0	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:14161619C>A	ENST00000263379.2	+	11	1577	c.1452C>A	c.(1450-1452)ccC>ccA	p.P484P		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	484	Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTTGGGGTCCCTGTGAGCTGT	0.592													4	33					0.000602214	0.00119898	1	0	A	14161619	C	A	14161619	2	1	217	1	0	0	0	0	0	0	0	1	7734	668	24	4		4	IL27RA	19	14161619	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08	2218310	14161619	44967364	169	38754											
OR10H4	126541	broad.mit.edu	37	chr19	16060277	16060277	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtacctgggctggtggcTcagtcatggggatgatggtg	5	11	17	8	0	2	1	2	1	0	0	2	2	2	2	2	6	1	3	2	6	1	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:16060277T>G	ENST00000322107.1	+	1	460	c.460T>G	c.(460-462)Tca>Gca	p.S154A		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GGCTGGTGGCTCAGTCATGGG	0.512													20	112					0	0	0	0	G	16060277	T	G	16060277	3	3	217	1	0	0	0	0	1	0	0	0	10979	1551	54	5	462	5	OR10H4	19	16060277	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08	1898658	16060277	43068706	170	38755											
ZNF585B	92285	broad.mit.edu	37	chr19	37677063	37677063	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggcttttctcctgtgtgaAttcgtttatgaacatggagt	8	16	11	6	1	1	2	0	2	1	0	3	3	1	3	1	2	1	2	1	2	3	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:37677063A>C	ENST00000532828.2	-	5	1627	c.1376T>G	c.(1375-1377)aTt>aGt	p.I459S	ZNF585B_ENST00000531805.1_Missense_Mutation_p.I404S|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.I47S|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCTGTGTGAATTCGTTTATG	0.373													13	119					0	0	0	0	C	37677063	A	C	37677063	3	2	217	1	0	0	0	0	1	0	0	0	18113	101	4	5	937	5	ZNF585B	19	37677063	Missense_Mutation	SNP	A	TCGA-CR-7395-01A-11D-2012-08	21616786	37677063	21451920	171	38756											
LRFN1	57622	broad.mit.edu	37	chr19	39798886	39798886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggagcccttgacgcggCggctgtccccgtcgccatac	5	7	12	17	5	0	1	0	1	0	0	2	2	1	2	5	3	2	1	5	3	1	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:39798886C>T	ENST00000248668.4	-	2	1702	c.1703G>A	c.(1702-1704)cGc>cAc	p.R568H		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	568						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		p.R520L(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTTGACGCGGCGGCTGTCCCC	0.682													6	34					0	0	0	0	T	39798886	C	T	39798886	3	4	217	1	0	0	0	0	1	0	0	0	9001	768	27	1	616	1	LRFN1	19	39798886	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	2121823	39798886	19330097	172	38757											
SIGLEC12	89858	broad.mit.edu	37	chr19	52001378	52001378	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcacatgcactcgaggCagctccagcaccccaaggtt	9	8	8	16	1	1	0	1	0	0	0	4	1	3	0	4	2	3	5	4	2	1	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:52001378C>A	ENST00000291707.3	-	5	1354	c.1299G>T	c.(1297-1299)ctG>ctT	p.L433L	SIGLEC12_ENST00000598614.1_Silent_p.L315L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	433	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCACTCGAGGCAGCTCCAGCA	0.607													10	56					1.76689e-08	3.59923e-08	1	0	A	52001378	C	A	52001378	2	1	217	1	0	0	0	0	0	0	0	1	14396	697	25	4		4	SIGLEC12	19	52001378	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08	12202492	52001378	7127605	173	38758											
ISM1	140862	broad.mit.edu	37	chr20	13280034	13280034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcccggcctcccaacaaCggacagaagtgcacagagag	13	2	13	13	2	0	2	0	0	0	2	1	5	1	3	3	3	3	1	3	3	3	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr20:13280034C>T	ENST00000262487.3	+	6	1329	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	441	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CTCCCAACAACGGACAGAAGT	0.577													10	52					0	0	0	0	T	13280034	C	T	13280034	2	4	217	1	0	0	0	0	0	0	0	1	7913	535	19	1		1	ISM1	20	13280034	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08		13280034	49745486	174	38759											
CHAF1B	8208	broad.mit.edu	37	chr21	37788639	37788639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagactcgatgaaaacaaagGaggcacggaaagtctggacc	16	4	12	9	2	1	2	0	1	1	1	2	6	1	5	1	4	1	1	1	4	4	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:37788639G>A	ENST00000314103.4	+	14	1806	c.1655G>A	c.(1654-1656)gGa>gAa	p.G552E		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	552					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GAAAACAAAGGAGGCACGGAA	0.567													4	35					0	0	0	0	A	37788639	G	A	37788639	3	1	217	1	0	0	0	0	1	0	0	0	3341	1174	41	2	1705	2	CHAF1B	21	37788639	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08		37788639	10341256	175	38760											
SLC37A1	54020	broad.mit.edu	37	chr21	43974187	43974187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagcactcaaaaggctatGagaatggtacaaacagattg	17	7	9	8	0	1	2	1	1	0	2	1	3	1	2	1	2	3	3	1	2	6	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:43974187G>A	ENST00000352133.2	+	10	1766	c.784G>A	c.(784-786)Gag>Aag	p.E262K	SLC37A1_ENST00000398341.3_Missense_Mutation_p.E262K			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	262					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						AAAAGGCTATGAGAATGGTAC	0.388													4	20					0	0	0	0	A	43974187	G	A	43974187	3	1	217	1	0	0	0	0	1	0	0	0	14685	1291	45	2	818	2	SLC37A1	21	43974187	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	6185548	43974187	4155708	176	38761											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45970921	45970921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagcagacaggcacacGgcaggactgctggcaggagg	10	5	16	10	1	0	1	0	0	0	1	0	3	0	3	0	6	3	6	0	6	0	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:45970921G>C	ENST00000391621.1	-	1	467	c.421C>G	c.(421-423)Cgt>Ggt	p.R141G	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	141	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						ACAGGCACACGGCAGGACTGC	0.617													26	154					0	0	0	0	C	45970921	G	C	45970921	3	2	217	1	0	0	0	0	1	0	0	0	8561	1116	39	3	350	3	KRTAP10-2	21	45970921	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	1996734	45970921	2158974	177	38762											
PCBP3	54039	broad.mit.edu	37	chr21	47360032	47360032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaaatcgccaacgccaCggaagggtcctcagagcgtc	12	5	11	13	4	2	1	2	0	0	1	5	3	3	2	3	2	2	0	3	2	4	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:47360032C>T	ENST00000400314.1	+	15	1336	c.998C>T	c.(997-999)aCg>aTg	p.T333M	PCBP3_ENST00000400309.1_Missense_Mutation_p.T332M|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000449640.1_Missense_Mutation_p.T333M|PCBP3_ENST00000400304.1_Missense_Mutation_p.T323M|PCBP3_ENST00000400308.1_Missense_Mutation_p.T307M|PCBP3_ENST00000400310.1_Missense_Mutation_p.T313M			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	333	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		GCCAACGCCACGGAAGGGTCC	0.527													5	64					0	0	0	0	T	47360032	C	T	47360032	3	4	217	1	0	0	0	0	1	0	0	0	11573	536	19	1	1048	1	PCBP3	21	47360032	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	1389111	47360032	769863	178	38763											
OSBP2	23762	broad.mit.edu	37	chr22	31285493	31285493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggtactagatggtgcctCgctcgtgcccaagggttcat	7	10	13	11	2	1	1	1	0	0	1	3	1	1	1	2	3	3	4	2	3	3	3			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr22:31285493C>T	ENST00000332585.6	+	7	1597	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L	OSBP2_ENST00000403222.3_Missense_Mutation_p.S332L|OSBP2_ENST00000401475.1_Missense_Mutation_p.S131L|OSBP2_ENST00000407373.1_Missense_Mutation_p.S325L|OSBP2_ENST00000437268.2_Missense_Mutation_p.S240L|OSBP2_ENST00000535268.1_Missense_Mutation_p.S42L|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000446658.2_Missense_Mutation_p.S497L	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	498					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GATGGTGCCTCGCTCGTGCCC	0.577													18	178					0	0	0	0	T	31285493	C	T	31285493	3	4	217	1	0	0	0	0	1	0	0	0	11345	893	31	1	1519	1	OSBP2	22	31285493	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08		31285493	20019073	179	38764											
EP300	2033	broad.mit.edu	37	chr22	41572250	41572250	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagactgtctgtttttcaGgtcttctttgtgatccgcct	6	17	9	9	1	4	2	1	1	3	1	5	3	5	2	2	1	0	1	2	1	1	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr22:41572250G>A	ENST00000263253.7	+	30	5998		c.e30-1		RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTGTTTTTCAGGTCTTCTTTG	0.537			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				10	174					0	0	0	0	A	41572250	G	A	41572250	5	1	217	1	0	0	0	0	0	0	1	0	5186	1014	35	4	4897	4	EP300	22	41572250	Splice_Site	SNP	G	TCGA-CR-7395-01A-11D-2012-08	10286757	41572250	9732316	180	38765											
PNPLA3	80339	broad.mit.edu	37	chr22	44340652	44340652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtgttcactcgagtgctGatgtgtctgctccccgcctc	4	12	11	14	2	2	1	1	1	1	0	5	2	3	1	3	1	2	3	3	1	0	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr22:44340652G>A	ENST00000216180.3	+	8	1367	c.1194G>A	c.(1192-1194)ctG>ctA	p.L398L	PNPLA3_ENST00000423180.2_Silent_p.L394L	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	398					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CTCGAGTGCTGATGTGTCTGC	0.562													15	85					0	0	0	0	A	44340652	G	A	44340652	2	1	217	1	0	0	0	0	0	0	0	1	12238	1277	45	2		2	PNPLA3	22	44340652	Silent	SNP	G	TCGA-CR-7395-01A-11D-2012-08	2768402	44340652	6963914	181	38766											
USP9X	8239	broad.mit.edu	37	chrX	41048594	41048594	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagccagacttggaagaCgaacaggtttgctgtgaagc	13	8	13	7	1	0	4	0	2	0	2	0	6	0	5	1	2	4	2	1	2	4	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:41048594C>T	ENST00000324545.7	+	26	4476	c.3843C>T	c.(3841-3843)gaC>gaT	p.D1281D	USP9X_ENST00000378308.2_Silent_p.D1281D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1281					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACTTGGAAGACGAACAGGTTT	0.388													9	72					0	0	0	0	T	41048594	C	T	41048594	2	4	217	1	0	0	0	0	0	0	0	1	17186	535	19	1		1	USP9X	23	41048594	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08		41048594	114221966	182	38767											
WDR13	64743	broad.mit.edu	37	chrX	48458093	48458093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgtttttgaccagcacGtggatgaggcaggtgagcca	10	10	13	8	1	1	3	1	3	0	0	1	4	1	4	2	3	2	3	2	3	0	2			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:48458093G>A	ENST00000218056.5	+	4	1016	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	171						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TGACCAGCACGTGGATGAGGC	0.572													11	80					0	0	0	0	A	48458093	G	A	48458093	3	1	217	1	0	0	0	0	1	0	0	0	17371	1145	40	1	525	1	WDR13	23	48458093	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	7409499	48458093	106812467	183	38768											
MTMR8	55613	broad.mit.edu	37	chrX	63551561	63551561	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcacagggaaactgttccaTtaattgccagatacagtcta	13	10	9	9	0	1	1	0	0	1	1	2	2	2	2	2	2	3	2	2	2	4	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:63551561T>A	ENST00000374852.3	-	11	1295	c.1228A>T	c.(1228-1230)Atg>Ttg	p.M410L	MTMR8_ENST00000453546.1_Intron|MTMR8_ENST00000478487.1_5'UTR	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	410	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AACTGTTCCATTAATTGCCAG	0.438													4	39					0	0	0	0	A	63551561	T	A	63551561	3	1	217	1	0	0	0	0	1	0	0	0	10019	1493	52	5	902	5	MTMR8	23	63551561	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08	15093468	63551561	91718999	184	38769											
TAF1	6872	broad.mit.edu	37	chrX	70607298	70607298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagggccaatacgcatattcGagactttctacaggtaagaa	15	9	9	8	2	1	2	0	0	1	2	2	3	1	2	1	2	2	2	1	2	7	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:70607298G>A	ENST00000449580.1	+	15	2462	c.2411G>A	c.(2410-2412)cGa>cAa	p.R804Q	TAF1_ENST00000373790.4_Missense_Mutation_p.R804Q|TAF1_ENST00000423759.1_Missense_Mutation_p.R825Q|TAF1_ENST00000276072.3_Missense_Mutation_p.R825Q			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	804					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.R804Q(1)|p.R825Q(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACGCATATTCGAGACTTTCTA	0.488													8	69					0	0	0	0	A	70607298	G	A	70607298	3	1	217	1	0	0	0	0	1	0	0	0	15604	1058	37	1	2532	1	TAF1	23	70607298	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	7055737	70607298	84663262	185	38770											
NOX1	27035	broad.mit.edu	37	chrX	100098950	100098950	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcctataactcaaaaattTtctttgttgaagtagaattg	14	17	5	5	0	2	2	1	1	1	1	3	2	3	2	1	0	1	2	1	0	7	9			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:100098950T>G	ENST00000372966.3	-	13	1891	c.1686A>C	c.(1684-1686)gaA>gaC	p.E562D	NOX1_ENST00000372960.4_Missense_Mutation_p.E525D|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.E513D	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	562					angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CTCAAAAATTTTCTTTGTTGA	0.408													3	32					0	0	0	0	G	100098950	T	G	100098950	3	3	217	1	0	0	0	0	1	0	0	0	10626	1838	64	5	12	5	NOX1	23	100098950	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08	29491652	100098950	55171610	186	38771											
BTK	695	broad.mit.edu	37	chrX	100608293	100608293	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctcactgttagtaaatctCtcatatggcatcttccccag	9	14	6	12	0	4	0	2	0	3	0	7	0	5	0	2	1	0	3	2	1	4	4			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:100608293C>G	ENST00000308731.7	-	18	1960	c.1797G>C	c.(1795-1797)gaG>gaC	p.E599D	BTK_ENST00000372880.1_Missense_Mutation_p.E423D	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	599	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAGTAAATCTCTCATATGGCA	0.423									Agammaglobulinemia, X-linked				18	160					0	0	0	0	G	100608293	C	G	100608293	3	3	217	1	0	0	0	0	1	0	0	0	1566	912	32	2	190	2	BTK	23	100608293	Missense_Mutation	SNP	C	TCGA-CR-7395-01A-11D-2012-08	509343	100608293	54662267	187	38772											
ATP1B4	23439	broad.mit.edu	37	chrX	119504589	119504591	+	In_Frame_Del	DEL	CTT	CTT	-																															ggcctgatcttactcatttaCttcttcttctatgcctcctt																										TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:119504589_119504591delCTT	ENST00000218008.3	+	3	405_407	c.348_350delCTT	c.(346-351)tac>ta	p.YF116del	ATP1B4_ENST00000361319.3_In_Frame_Del_p.YF112del|ATP1B4_ENST00000539306.1_Intron	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	116					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TACTCATTTACTTCTTCTTCTAT	0.483													41	269	---	---	---	---					-	119504591	CTT	-	119504589	7	5	217	1	0	1	0	1	0	0	0	0	1139	576	20	0	358	0	ATP1B4	23	119504589	In_Frame_Del	DEL	CTT	TCGA-CR-7395-01A-11D-2012-08	18896296	119504589	35765971	188	38773											
STAG2	10735	broad.mit.edu	37	chrX	123159747	123159747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagatatcgaaggaaaaaaCcaaaagcaaggcaaaggcaa	23	2	10	6	1	0	1	0	0	0	1	1	4	0	2	1	3	2	3	1	3	11	1			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:123159747C>T	ENST00000371160.1	+	4	392	c.102C>T	c.(100-102)aaC>aaT	p.N34N	STAG2_ENST00000371145.3_Silent_p.N34N|STAG2_ENST00000371157.3_Silent_p.N34N|STAG2_ENST00000218089.9_Silent_p.N34N|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_5'UTR|STAG2_ENST00000371144.3_Silent_p.N34N			Q8N3U4	STAG2_HUMAN	stromal antigen 2	34					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAGGAAAAAACCAAAAGCAAG	0.323													7	110					0	0	0	0	T	123159747	C	T	123159747	2	4	217	1	0	0	0	0	0	0	0	1	15333	506	18	4		4	STAG2	23	123159747	Silent	SNP	C	TCGA-CR-7395-01A-11D-2012-08	3655158	123159747	32110813	189	38774											
DDX26B	203522	broad.mit.edu	37	chrX	134690127	134690127	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtggaaagtacaatgaacTtggatatccatttggttatt	13	14	9	5	0	0	1	0	1	0	0	1	3	1	3	1	3	2	2	1	3	6	6			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:134690127T>G	ENST00000370752.4	+	9	1428	c.1094T>G	c.(1093-1095)cTt>cGt	p.L365R	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	365										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TACAATGAACTTGGATATCCA	0.348													7	95					0	0	0	0	G	134690127	T	G	134690127	3	3	217	1	0	0	0	0	1	0	0	0	4385	1609	56	5	1128	5	DDX26B	23	134690127	Missense_Mutation	SNP	T	TCGA-CR-7395-01A-11D-2012-08	11530380	134690127	20580433	190	38775											
PLXNA3	55558	broad.mit.edu	37	chrX	153696341	153696341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgtggccctggagtgcaagGaaggtgcctgaggcggggcg	6	6	21	8	2	0	1	0	1	0	0	0	3	0	3	2	7	2	1	2	7	2	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:153696341G>A	ENST00000369682.3	+	21	3992	c.3817G>A	c.(3817-3819)Gaa>Aaa	p.E1273K		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1273					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAGTGCAAGGAAGGTGCCTG	0.642													13	55					0	0	0	0	A	153696341	G	A	153696341	3	1	217	1	0	0	0	0	1	0	0	0	12193	1175	41	2	3895	2	PLXNA3	23	153696341	Missense_Mutation	SNP	G	TCGA-CR-7395-01A-11D-2012-08	19006214	153696341	1574219	191	38776											
PLXNA3	55558	broad.mit.edu	37	chrX	153696645	153696645	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagacctcctgctccccacaGacgccacccaacgtggagaa	11	4	9	17	2	0	3	0	0	0	3	2	5	2	3	6	1	2	1	6	1	2	0			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:153696645G>A	ENST00000369682.3	+	23	4138		c.e23-1			NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3						axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTCCCCACAGACGCCACCCA	0.672													7	76					0	0	0	0	A	153696645	G	A	153696645	5	1	217	1	0	0	0	0	0	0	1	0	12193	956	33	2	4049	2	PLXNA3	23	153696645	Splice_Site	SNP	G	TCGA-CR-7395-01A-11D-2012-08	304	153696645	1573915	192	38777											
MPP1	4354	broad.mit.edu	37	chrX	154019310	154019310	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcacatttgtgccattgAtttctaggatctcatccccc	7	16	6	12	0	3	1	2	1	2	0	5	2	4	2	3	1	1	0	3	1	1	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:154019310A>C	ENST00000413259.3	-	5	661	c.269T>G	c.(268-270)aTc>aGc	p.I90S	MPP1_ENST00000393531.1_Missense_Mutation_p.I120S|MPP1_ENST00000369534.3_Missense_Mutation_p.I120S|MPP1_ENST00000462825.1_Intron	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	120	PDZ.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTGCCATTGATTTCTAGGAT	0.423													7	268					0	0	0	0	C	154019310	A	C	154019310	3	2	217	1	0	0	0	0	1	0	0	0	9803	333	12	5	1077	5	MPP1	23	154019310	Missense_Mutation	SNP	A	TCGA-CR-7395-01A-11D-2012-08	322665	154019310	1251250	193	38778											
F8	2157	broad.mit.edu	37	chrX	154128150	154128150	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattttctaaccttgatccaAgaaaagggctccttggtgct	10	13	8	10	0	1	2	0	1	1	1	3	2	3	2	3	2	2	2	3	2	4	5			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:154128150A>C	ENST00000360256.4	-	21	6464	c.6264T>G	c.(6262-6264)tcT>tcG	p.S2088S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2088	F5/8 type C 1.		S -> F (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCTTGATCCAAGAAAAGGGCT	0.413													4	34					0	0	0	0	C	154128150	A	C	154128150	2	2	217	1	0	0	0	0	0	0	0	1	5388	59	3	5		5	F8	23	154128150	Silent	SNP	A	TCGA-CR-7395-01A-11D-2012-08	108840	154128150	1142410	194	38779											
MUTYH	4595	broad.mit.edu	37	chr1	45799087	45799087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctcgcctgcctacccGtcttctccatggtaggtccc	3	12	8	18	2	2	0	0	0	2	0	6	0	4	0	6	2	3	2	6	2	2	3			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:45799087G>A	ENST00000450313.1	-	3	561	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	MUTYH_ENST00000355498.2_Missense_Mutation_p.R88W|MUTYH_ENST00000372104.1_Missense_Mutation_p.R88W|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.R88W|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372098.3_Missense_Mutation_p.R113W|MUTYH_ENST00000372100.5_Missense_Mutation_p.R99W|MUTYH_ENST00000372110.3_Missense_Mutation_p.R103W|MUTYH_ENST00000354383.6_Missense_Mutation_p.R89W|MUTYH_ENST00000372115.3_Missense_Mutation_p.R102W|MUTYH_ENST00000448481.1_Missense_Mutation_p.R99W|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000529984.1_Intron	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	113					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTGCCTACCCGTCTTCTCCAT	0.582			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				8	80					0	0	0	0	A	45799087	G	A	45799087	3	1	218	1	0	0	0	0	1	0	0	0	10063	1144	40	1	1359	1	MUTYH	1	45799087	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08		45799087	203451534	1	38780											
SGIP1	84251	broad.mit.edu	37	chr1	67195004	67195004	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgctggcatcaccagAcactttgccaacaacccgtc	9	10	6	16	1	1	1	1	0	0	1	3	1	2	1	4	1	4	2	4	1	2	2			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:67195004A>G	ENST00000371037.4	+	20	1877	c.1800A>G	c.(1798-1800)agA>agG	p.R600R	SGIP1_ENST00000435165.2_Silent_p.R105R|SGIP1_ENST00000371035.3_Silent_p.R390R|SGIP1_ENST00000371036.3_Silent_p.R402R|SGIP1_ENST00000371039.1_Silent_p.R403R|SGIP1_ENST00000237247.6_Silent_p.R631R	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	600					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GCATCACCAGACACTTTGCCA	0.468													7	86					0	0	0	0	G	67195004	A	G	67195004	2	3	218	1	0	0	0	0	0	0	0	1	14293	272	10	5		5	SGIP1	1	67195004	Silent	SNP	A	TCGA-CR-7397-01A-11D-2012-08	21395917	67195004	182055617	2	38781											
NTRK1	4914	broad.mit.edu	37	chr1	156837972	156837972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaggaggagggactgggcGgagtgcctgaacagaagctg	10	4	21	6	1	0	2	0	1	0	1	0	7	0	7	1	6	3	1	1	6	2	0			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:156837972G>A	ENST00000368196.3	+	5	625	c.505G>A	c.(505-507)Gga>Aga	p.G169R	NTRK1_ENST00000392302.2_Missense_Mutation_p.G139R|NTRK1_ENST00000524377.1_Missense_Mutation_p.G169R|NTRK1_ENST00000358660.3_Missense_Mutation_p.G169R	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	169	LRRCT.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGGACTGGGCGGAGTGCCTGA	0.657			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			7	64					0	0	0	0	A	156837972	G	A	156837972	3	1	218	1	0	0	0	0	1	0	0	0	10777	1117	39	1	653	1	NTRK1	1	156837972	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08	89642968	156837972	92412649	3	38782											
GPR25	2848	broad.mit.edu	37	chr1	200842880	200842880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcacgtgggtcgggccCggaggaactcgctgcgcatc	5	5	16	15	7	0	0	0	0	0	0	3	2	0	2	2	4	2	3	2	4	1	0			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:200842880C>T	ENST00000304244.2	+	1	798	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	239						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGGTCGGGCCCGGAGGAACTC	0.692													5	58					0	0	0	0	T	200842880	C	T	200842880	3	4	218	1	0	0	0	0	1	0	0	0	6732	643	23	1	717	1	GPR25	1	200842880	Missense_Mutation	SNP	C	TCGA-CR-7397-01A-11D-2012-08	44004908	200842880	48407741	4	38783											
OR2L13	284521	broad.mit.edu	37	chr1	248263541	248263541	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgctcaatcccattatCtacagcctgaggaataagga	13	9	7	12	0	2	1	1	1	1	0	3	3	3	3	3	2	3	1	3	2	5	3			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:248263541C>A	ENST00000366478.2	+	3	1201	c.864C>A	c.(862-864)atC>atA	p.I288I	OR2L13_ENST00000358120.2_Silent_p.I288I	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATCCCATTATCTACAGCCTGA	0.493													8	59					0.00448238	0.00563693	1	0	A	248263541	C	A	248263541	2	1	218	1	0	0	0	0	0	0	0	1	11077	903	32	2		2	OR2L13	1	248263541	Silent	SNP	C	TCGA-CR-7397-01A-11D-2012-08	47420661	248263541	987080	5	38784											
NCK2	8440	broad.mit.edu	37	chr2	106497876	106497876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgccaatggcagcggcgccGaccgcatctacgacctcaac	9	4	10	18	6	2	0	1	0	1	0	2	2	2	0	5	2	3	2	5	2	3	1			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr2:106497876G>A	ENST00000233154.4	+	4	761	c.319G>A	c.(319-321)Gac>Aac	p.D107N	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.D107N	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	107					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						CAGCGGCGCCGACCGCATCTA	0.682													9	56					0	0	0	0	A	106497876	G	A	106497876	3	1	218	1	0	0	0	0	1	0	0	0	10290	1058	37	1	325	1	NCK2	2	106497876	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08		106497876	136701497	6	38785											
GLI2	2736	broad.mit.edu	37	chr2	121729595	121729595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgcagcaaggtcaagaccGagcctgagggcctgcggccg	9	3	16	13	4	1	2	1	1	0	1	1	3	1	2	4	3	4	2	4	3	2	0			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr2:121729595G>A	ENST00000452319.1	+	8	1198	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	GLI2_ENST00000361492.4_Missense_Mutation_p.E380K|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.E52K			P10070	GLI2_HUMAN	GLI family zinc finger 2	380					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)				GGTCAAGACCGAGCCTGAGGG	0.647													9	62					0	0	0	0	A	121729595	G	A	121729595	3	1	218	1	0	0	0	0	1	0	0	0	6489	1059	37	1	1164	1	GLI2	2	121729595	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08	15231719	121729595	121469778	7	38786											
STAM2	10254	broad.mit.edu	37	chr2	153000432	153000432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataaagctctcactttccGtgcaaccttattatttaact	12	16	3	10	1	1	0	1	0	1	0	3	0	2	0	2	0	4	2	2	0	7	7	rs137997902		TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr2:153000432G>A	ENST00000263904.4	-	7	962	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	205	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		CTCACTTTCCGTGCAACCTTA	0.333													6	47					0	0	0	0	A	153000432	G	A	153000432	3	1	218	1	0	0	0	0	1	0	0	0	15339	1144	40	1	996	1	STAM2	2	153000432	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08	31270837	153000432	90198941	8	38787											
INPP1	3628	broad.mit.edu	37	chr2	191235874	191235874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagataccacattcaaatggGactcttgtgctgctcatgcc	11	11	8	11	0	3	1	2	0	1	1	3	2	3	2	2	1	4	2	2	1	3	3			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr2:191235874G>T	ENST00000392329.2	+	7	1646	c.946G>T	c.(946-948)Gac>Tac	p.D316Y	INPP1_ENST00000322522.4_Missense_Mutation_p.D316Y|INPP1_ENST00000541441.1_Missense_Mutation_p.D316Y	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	316					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	ATTCAAATGGGACTCTTGTGC	0.463													5	94					5.9392e-07	7.7024e-07	1	0	T	191235874	G	T	191235874	3	4	218	1	0	0	0	0	1	0	0	0	7804	1174	41	2	964	2	INPP1	2	191235874	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08	38235442	191235874	51963499	9	38788											
DNAJB2	3300	broad.mit.edu	37	chr2	220144591	220144591	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcctagacgtgccgcgAagtgcgtccgctgatgacat	9	8	13	11	5	0	4	0	2	0	2	2	6	2	4	3	0	2	1	3	0	2	1			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr2:220144591A>T	ENST00000336576.5	+	2	324	c.36A>T	c.(34-36)cgA>cgT	p.R12R	DNAJB2_ENST00000392086.4_Silent_p.R12R	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	12	J.				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGTGCCGCGAAGTGCGTCCG	0.592													15	60					0	0	0	0	T	220144591	A	T	220144591	2	4	218	1	0	0	0	0	0	0	0	1	4656	233	9	5		5	DNAJB2	2	220144591	Silent	SNP	A	TCGA-CR-7397-01A-11D-2012-08	28908717	220144591	23054782	10	38789											
WDR48	57599	broad.mit.edu	37	chr3	39116272	39116272	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtcccttggccagcagaGatgtatagcaacataccgag	11	9	11	10	1	0	1	0	0	0	1	1	3	1	1	3	2	4	3	3	2	4	5			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr3:39116272G>C	ENST00000302313.5	+	8	756	c.728G>C	c.(727-729)aGa>aCa	p.R243T	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.R35T|WDR48_ENST00000396258.3_Missense_Mutation_p.R161T	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	243					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGCCAGCAGAGATGTATAGCA	0.478													14	54					0	0	0	0	C	39116272	G	C	39116272	3	2	218	1	0	0	0	0	1	0	0	0	17397	942	33	2	758	2	WDR48	3	39116272	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08		39116272	158906158	11	38790											
COL8A1	1295	broad.mit.edu	37	chr3	99509630	99509630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctactatgggatcaagcCgctgccacctcaaattcctc	9	10	7	15	1	2	0	2	0	0	0	4	1	3	1	5	1	4	1	5	1	4	3			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr3:99509630C>T	ENST00000261037.3	+	4	484	c.104C>T	c.(103-105)cCg>cTg	p.P35L	COL8A1_ENST00000273342.4_Missense_Mutation_p.P35L	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	35	Nonhelical region (NC2).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGGATCAAGCCGCTGCCACCT	0.557													4	95					0	0	0	0	T	99509630	C	T	99509630	3	4	218	1	0	0	0	0	1	0	0	0	3735	652	23	1	106	1	COL8A1	3	99509630	Missense_Mutation	SNP	C	TCGA-CR-7397-01A-11D-2012-08	60393358	99509630	98512800	12	38791											
EEFSEC	60678	broad.mit.edu	37	chr3	127983609	127983609	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctcggtgacagtgtggaGatccctgccctcaaggtcag	8	8	13	12	1	2	2	2	1	0	1	4	3	3	2	3	3	2	0	3	3	1	0			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr3:127983609G>A	ENST00000254730.6	+	4	825	c.771G>A	c.(769-771)gaG>gaA	p.E257E	EEFSEC_ENST00000483457.1_Intron	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	257						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ACAGTGTGGAGATCCCTGCCC	0.567													7	58					0	0	0	0	A	127983609	G	A	127983609	2	1	218	1	0	0	0	0	0	0	0	1	4967	933	33	2		2	EEFSEC	3	127983609	Silent	SNP	G	TCGA-CR-7397-01A-11D-2012-08	28473979	127983609	70038821	13	38792											
AFAP1	60312	broad.mit.edu	37	chr4	7840316	7840316	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcgggtccgtgccctgctGagtaatcttcagctcgtgct	6	11	12	12	3	2	1	1	1	1	0	4	1	3	1	2	1	5	4	2	1	2	2			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr4:7840316G>C	ENST00000420658.1	-	6	933	c.661C>G	c.(661-663)Cag>Gag	p.Q221E	AFAP1_ENST00000358461.2_Missense_Mutation_p.Q221E|AFAP1_ENST00000382543.3_Missense_Mutation_p.Q221E|AFAP1_ENST00000360265.4_Missense_Mutation_p.Q221E	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	221	PH 1.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GTGCCCTGCTGAGTAATCTTC	0.532													3	77					0	0	0	0	C	7840316	G	C	7840316	3	2	218	1	0	0	0	0	1	0	0	0	353	1299	45	2	1835	2	AFAP1	4	7840316	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08		7840316	183313960	14	38793											
KCTD8	386617	broad.mit.edu	37	chr4	44450256	44450256	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggtcgatgaagaagcgCgcccggctgtccctgggcag	6	6	15	14	5	0	2	0	1	0	1	3	3	2	2	3	3	1	2	3	3	2	0			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr4:44450256C>T	ENST00000360029.3	-	1	568	c.285G>A	c.(283-285)gcG>gcA	p.A95A		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	95	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGAAGAAGCGCGCCCGGCTGT	0.667										HNSCC(17;0.042)			4	24					0	0	0	0	T	44450256	C	T	44450256	2	4	218	1	0	0	0	0	0	0	0	1	8168	755	27	1		1	KCTD8	4	44450256	Silent	SNP	C	TCGA-CR-7397-01A-11D-2012-08	36609940	44450256	146704020	15	38794											
NAA11	84779	broad.mit.edu	37	chr4	80246805	80246805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccggtgtgaacgcttcacgGccagtgaggtgatatggcca	8	8	15	10	3	1	3	1	3	0	0	1	3	1	3	3	4	1	1	3	4	2	2			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr4:80246805G>A	ENST00000286794.4	-	1	399	c.227C>T	c.(226-228)gCc>gTc	p.A76V		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	76	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						ACGCTTCACGGCCAGTGAGGT	0.562													10	96					0	0	0	0	A	80246805	G	A	80246805	3	1	218	1	0	0	0	0	1	0	0	0	10187	1203	42	4	466	4	NAA11	4	80246805	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08	35796549	80246805	110907471	16	38795											
FAM13A	10144	broad.mit.edu	37	chr4	89950619	89950619	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttaactcaccatgctgcGtcaaatattccactatattc	12	13	4	12	1	2	0	2	0	0	0	4	1	3	0	2	0	3	1	2	0	5	6			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr4:89950619G>A	ENST00000511976.1	-	0	404				FAM13A_ENST00000264344.5_Missense_Mutation_p.T70M|FAM13A_ENST00000515600.1_Missense_Mutation_p.T70M|FAM13A_ENST00000509094.1_Missense_Mutation_p.T70M|FAM13A_ENST00000502459.1_5'UTR			O94988	FA13A_HUMAN	family with sequence similarity 13, member A						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ACCATGCTGCGTCAAATATTC	0.393													4	152					0	0	0	0	A	89950619	G	A	89950619	1	1	218	1	0	0	0	0	0	0	0	0	5493	1145	40	1		1	FAM13A	4	89950619	Translation_Start_Site	SNP	G	TCGA-CR-7397-01A-11D-2012-08	9703814	89950619	101203657	17	38796											
NPY5R	4889	broad.mit.edu	37	chr4	164272135	164272135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatacaagtgtctgcagaaGtataagctgtggattgtcca	12	12	10	7	0	2	1	1	0	1	1	3	2	3	2	1	1	3	3	1	1	5	4			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr4:164272135G>A	ENST00000515560.1	+	4	2232	c.710G>A	c.(709-711)aGt>aAt	p.S237N	NPY5R_ENST00000506953.1_Missense_Mutation_p.S237N|NPY5R_ENST00000338566.3_Missense_Mutation_p.S237N			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	237					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GTCTGCAGAAGTATAAGCTGT	0.368													19	61					0	0	0	0	A	164272135	G	A	164272135	3	1	218	1	0	0	0	0	1	0	0	0	10681	1029	36	4	712	4	NPY5R	4	164272135	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08	74321516	164272135	26882141	18	38797											
VCAN	1462	broad.mit.edu	37	chr5	82817997	82817997	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctgctacacagccaaCaagaccacccactgtggaag	12	6	7	16	0	0	1	0	0	0	1	2	2	2	2	5	1	4	1	5	1	4	1			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr5:82817997C>G	ENST00000265077.3	+	7	4437	c.3872C>G	c.(3871-3873)aCa>aGa	p.T1291R	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.T1243R|VCAN_ENST00000342785.4_Missense_Mutation_p.T1291R	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1291	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACACAGCCAACAAGACCACCC	0.478													13	86					0	0	0	0	G	82817997	C	G	82817997	3	3	218	1	0	0	0	0	1	0	0	0	17234	478	17	4	3894	4	VCAN	5	82817997	Missense_Mutation	SNP	C	TCGA-CR-7397-01A-11D-2012-08		82817997	98097263	19	38798											
KDM3B	51780	broad.mit.edu	37	chr5	137727716	137727716	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgtgaaaaggttctcaCtggatgaacgaagcttggct	12	10	12	7	1	1	2	1	2	1	0	2	4	1	3	0	3	3	4	0	3	5	2			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr5:137727716C>T	ENST00000314358.5	+	8	2595	c.2395C>T	c.(2395-2397)Ctg>Ttg	p.L799L	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Silent_p.L455L	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	799					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAGGTTCTCACTGGATGAACG	0.512													29	207					0	0	0	0	T	137727716	C	T	137727716	2	4	218	1	0	0	0	0	0	0	0	1	8180	564	20	4		4	KDM3B	5	137727716	Silent	SNP	C	TCGA-CR-7397-01A-11D-2012-08	54909719	137727716	43187544	20	38799											
CDHR2	54825	broad.mit.edu	37	chr5	176018404	176018404	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaccaggctttctctccaGagccaaccccatgctgaacc	9	9	7	16	0	1	3	0	2	1	1	3	3	2	3	6	1	4	2	6	1	2	2			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr5:176018404G>A	ENST00000510636.1	+	30	3927		c.e30-1		CDHR2_ENST00000261944.5_Splice_Site|CDHR2_ENST00000506348.1_Splice_Site	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2						homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TTTCTCTCCAGAGCCAACCCC	0.577													11	53					0	0	0	0	A	176018404	G	A	176018404	5	1	218	1	0	0	0	0	0	0	1	0	3148	956	33	2	3767	2	CDHR2	5	176018404	Splice_Site	SNP	G	TCGA-CR-7397-01A-11D-2012-08	38290688	176018404	4896856	21	38800											
PTK7	5754	broad.mit.edu	37	chr6	43113061	43113061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcagctggacttccGgagggagttggagatgtttg	8	9	17	7	1	0	1	0	0	0	1	1	5	1	4	1	4	3	6	1	4	0	3			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr6:43113061G>A	ENST00000230419.4	+	16	2752	c.2531G>A	c.(2530-2532)cGg>cAg	p.R844Q	PTK7_ENST00000352931.2_Missense_Mutation_p.R788Q|PTK7_ENST00000349241.2_Missense_Mutation_p.R714Q|PTK7_ENST00000481273.1_Missense_Mutation_p.R852Q|PTK7_ENST00000345201.2_Missense_Mutation_p.R804Q	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	844	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGGACTTCCGGAGGGAGTTG	0.602													13	52					0	0	0	0	A	43113061	G	A	43113061	3	1	218	1	0	0	0	0	1	0	0	0	12845	1116	39	1	2593	1	PTK7	6	43113061	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08		43113061	128002006	22	38801											
TXLNB	167838	broad.mit.edu	37	chr6	139609822	139609822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccctgctgtgctggcagcaGacccataagtgttaatgatg	9	11	11	10	0	0	2	0	1	0	1	1	2	1	2	2	1	3	5	2	1	2	2			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr6:139609822G>C	ENST00000358430.3	-	2	447	c.215C>G	c.(214-216)tCt>tGt	p.S72C		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	72						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCTGGCAGCAGACCCATAAGT	0.542													14	118					0	0	0	0	C	139609822	G	C	139609822	3	2	218	1	0	0	0	0	1	0	0	0	16884	942	33	2	1875	2	TXLNB	6	139609822	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08	96496761	139609822	31505245	23	38802											
AUTS2	26053	broad.mit.edu	37	chr7	70236612	70236612	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcccttttggttcactacaAggagcatttcagccgaaggt	9	11	11	10	1	2	0	2	0	0	0	2	2	2	1	2	4	3	2	2	4	3	5			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr7:70236612A>G	ENST00000342771.4	+	11	2133	c.1812A>G	c.(1810-1812)caA>caG	p.Q604Q	AUTS2_ENST00000406775.2_Silent_p.Q604Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	604										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GTTCACTACAAGGAGCATTTC	0.567													8	99					0	0	0	0	G	70236612	A	G	70236612	2	3	218	1	0	0	0	0	0	0	0	1	1229	69	3	5		5	AUTS2	7	70236612	Silent	SNP	A	TCGA-CR-7397-01A-11D-2012-08		70236612	88902051	24	38803											
CADPS2	93664	broad.mit.edu	37	chr7	122194724	122194724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctgatttggagctattaGaagttgggtataatatcacc	12	13	10	6	0	1	2	1	1	0	1	1	3	1	3	1	2	2	4	1	2	6	7			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr7:122194724G>C	ENST00000334010.7	-	8	1776	c.1355C>G	c.(1354-1356)tCt>tGt	p.S452C	CADPS2_ENST00000449022.2_Missense_Mutation_p.S452C|CADPS2_ENST00000412584.2_Missense_Mutation_p.S452C|CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000313070.7_Missense_Mutation_p.S452C	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	452					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GGAGCTATTAGAAGTTGGGTA	0.358													4	31					0	0	0	0	C	122194724	G	C	122194724	3	2	218	1	0	0	0	0	1	0	0	0	2596	942	33	2	2671	2	CADPS2	7	122194724	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08	51958112	122194724	36943939	25	38804											
PODXL	5420	broad.mit.edu	37	chr7	131195709	131195709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggtggccacaggatgcGtcgaagtgggttgtcggggg	5	9	21	6	3	0	0	0	0	0	0	2	2	0	1	1	7	1	1	1	7	1	2			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr7:131195709G>A	ENST00000541194.1	-	2	847	c.590C>T	c.(589-591)aCg>aTg	p.T197M	PODXL_ENST00000537928.1_Missense_Mutation_p.T195M|PODXL_ENST00000322985.9_Missense_Mutation_p.T195M|PODXL_ENST00000378555.3_Missense_Mutation_p.T195M	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	195	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.T195M(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CACAGGATGCGTCGAAGTGGG	0.537													6	81					0	0	0	0	A	131195709	G	A	131195709	3	1	218	1	0	0	0	0	1	0	0	0	12252	1145	40	1	1124	1	PODXL	7	131195709	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08	9000985	131195709	27942954	26	38805											
PTCH1	5727	broad.mit.edu	37	chr9	98220448	98220448	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgttggggtaactggacagCcccaggctcgtatagttgct	7	10	13	11	2	0	0	0	0	0	0	1	1	0	1	3	4	3	6	3	4	3	5			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr9:98220448C>A	ENST00000430669.2	-	18	3402	c.2817G>T	c.(2815-2817)ggG>ggT	p.G939G	PTCH1_ENST00000331920.6_Silent_p.G1005G|PTCH1_ENST00000429896.2_Silent_p.G854G|PTCH1_ENST00000421141.1_Silent_p.G854G|PTCH1_ENST00000375274.2_Silent_p.G1004G|PTCH1_ENST00000437951.1_Silent_p.G939G|PTCH1_ENST00000418258.1_Silent_p.G854G			Q13635	PTC1_HUMAN	patched 1	1005					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.I963fs*2(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACTGGACAGCCCCAGGCTCG	0.567													22	68					0.000295444	0.000377259	1	0	A	98220448	C	A	98220448	2	1	218	1	0	0	0	0	0	0	0	1	12809	726	26	4		4	PTCH1	9	98220448	Silent	SNP	C	TCGA-CR-7397-01A-11D-2012-08		98220448	42992983	27	38806											
ADARB2	105	broad.mit.edu	37	chr10	1284215	1284215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgcagctccagctgcGtgtagaggaagtgcaggaac	10	7	15	9	1	1	1	1	0	0	1	2	3	2	3	1	3	6	5	1	3	3	1			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr10:1284215G>A	ENST00000381312.1	-	5	1665	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	447	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTCCAGCTGCGTGTAGAGGAA	0.701													4	19					0	0	0	0	A	1284215	G	A	1284215	3	1	218	1	0	0	0	0	1	0	0	0	283	1145	40	1	903	1	ADARB2	10	1284215	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08		1284215	134250532	28	38807											
TMEM216	51259	broad.mit.edu	37	chr11	61165278	61165278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctctgccagcgaaagatgCcgctcagtattagcgtggcc	9	8	11	13	3	2	1	1	0	1	1	2	2	2	1	4	1	4	2	4	1	3	2			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr11:61165278C>T	ENST00000515837.2	+	4	1207	c.262C>T	c.(262-264)Ccg>Tcg	p.P88S	TMEM216_ENST00000398979.3_Missense_Mutation_p.P27S|TMEM216_ENST00000334888.5_Missense_Mutation_p.P88S			Q9P0N5	TM216_HUMAN	transmembrane protein 216	81						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						GCGAAAGATGCCGCTCAGTAT	0.552													4	124					0	0	0	0	T	61165278	C	T	61165278	3	4	218	1	0	0	0	0	1	0	0	0	16233	739	26	4	276	4	TMEM216	11	61165278	Missense_Mutation	SNP	C	TCGA-CR-7397-01A-11D-2012-08		61165278	73841238	29	38808											
H3F3C	440093	broad.mit.edu	37	chr12	31944914	31944914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctggaagggcagcttccGgatgagcagctcggtcgact	7	8	14	12	3	1	1	0	1	1	0	4	4	2	3	2	4	3	4	2	4	1	1			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr12:31944914G>A	ENST00000340398.3	-	1	261	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	63					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R63R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						GGCAGCTTCCGGATGAGCAGC	0.612										HNSCC(67;0.2)			3	85					0	0	0	0	A	31944914	G	A	31944914	3	1	218	1	0	0	0	0	1	0	0	0	6985	1115	39	1	224	1	H3F3C	12	31944914	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08		31944914	101906981	30	38809											
SMARCC2	6601	broad.mit.edu	37	chr12	56572620	56572620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtcgtctccatgctttcatCttcctgttcatctgaaagag	7	15	7	12	2	5	2	2	1	3	1	8	2	6	2	2	0	1	2	2	0	1	3			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr12:56572620C>T	ENST00000394023.3	-	13	1258	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	SMARCC2_ENST00000347471.4_Missense_Mutation_p.D385N|SMARCC2_ENST00000550164.1_Missense_Mutation_p.D385N|SMARCC2_ENST00000267064.4_Missense_Mutation_p.D385N|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	385					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATGCTTTCATCTTCCTGTTCA	0.483													4	46					0	0	0	0	T	56572620	C	T	56572620	3	4	218	1	0	0	0	0	1	0	0	0	14864	913	32	2	2652	2	SMARCC2	12	56572620	Missense_Mutation	SNP	C	TCGA-CR-7397-01A-11D-2012-08	24627706	56572620	77279275	31	38810											
SMARCC2	6601	broad.mit.edu	37	chr12	56575490	56575490	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacaggatttgtcacctCatctgtcagtgtcttggctg	9	13	10	9	0	5	1	3	0	2	1	5	2	5	2	1	2	1	1	1	2	2	2			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr12:56575490C>A	ENST00000394023.3	-	9	943	c.838G>T	c.(838-840)Gag>Tag	p.E280*	SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.E280*|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.E280*|SMARCC2_ENST00000267064.4_Nonsense_Mutation_p.E280*|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	280					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTTGTCACCTCATCTGTCAGT	0.433													9	113					0.00621372	0.00769759	1	0	A	56575490	C	A	56575490	4	1	218	1	0	0	0	0	0	1	0	0	14864	835	29	2	2983	2	SMARCC2	12	56575490	Nonsense_Mutation	SNP	C	TCGA-CR-7397-01A-11D-2012-08	2870	56575490	77276405	32	38811											
IQCD	115811	broad.mit.edu	37	chr12	113633454	113633454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgctttgcccttgccccGcttcttcttggatctgagca	3	16	8	14	1	3	1	0	1	3	0	3	2	3	2	3	1	4	3	3	1	0	6			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr12:113633454G>A	ENST00000416617.2	-	5	1466	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	IQCD_ENST00000299732.2_Missense_Mutation_p.R324W			Q96DY2	IQCD_HUMAN	IQ motif containing D	426	IQ.									endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						cccttgccccgcttcttctTG	0.607													22	103					0	0	0	0	A	113633454	G	A	113633454	3	1	218	1	0	0	0	0	1	0	0	0	7858	1086	38	1	77	1	IQCD	12	113633454	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08	57057964	113633454	20218441	33	38812											
PIWIL1	9271	broad.mit.edu	37	chr12	130840124	130840124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatgttcaaagggagcttcGagactggggtttgagctttg	9	13	14	5	1	1	2	1	1	0	1	2	4	1	3	0	3	2	4	0	3	2	5			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr12:130840124G>A	ENST00000245255.3	+	12	1588	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	439					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGGGAGCTTCGAGACTGGGGT	0.393													15	158					0	0	0	0	A	130840124	G	A	130840124	3	1	218	1	0	0	0	0	1	0	0	0	12029	1058	37	1	1358	1	PIWIL1	12	130840124	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08	17206670	130840124	3011771	34	38813											
EML5	161436	broad.mit.edu	37	chr14	89130941	89130941	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tatctataaagctgtcatggGatgctacagcaagatatttc	13	13	8	7	0	2	1	1	0	1	1	3	2	2	2	0	1	4	3	0	1	7	6			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr14:89130941G>C	ENST00000554922.1	-	23	3553	c.3305C>G	c.(3304-3306)tCc>tGc	p.S1102C	EML5_ENST00000380664.5_Missense_Mutation_p.S1102C|EML5_ENST00000352093.5_Missense_Mutation_p.S1064C	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1102						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCTGTCATGGGATGCTACAGC	0.328													4	65					0	0	0	0	C	89130941	G	C	89130941	3	2	218	1	0	0	0	0	1	0	0	0	5138	1174	41	2	2712	2	EML5	14	89130941	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08		89130941	18218599	35	38814											
HERC2	8924	broad.mit.edu	37	chr15	28538128	28538128	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttttttctctttgtcattCagatcttctttctttgttcc	3	25	3	10	0	7	1	2	0	5	1	9	1	8	1	1	0	0	1	1	0	0	9			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr15:28538128C>T	ENST00000261609.7	-	4	336	c.228G>A	c.(226-228)ctG>ctA	p.L76L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	76					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTTGTCATTCAGATCTTCTT	0.393													8	71					0	0	0	0	T	28538128	C	T	28538128	2	4	218	1	0	0	0	0	0	0	0	1	7108	813	29	2		2	HERC2	15	28538128	Silent	SNP	C	TCGA-CR-7397-01A-11D-2012-08		28538128	73993264	36	38815											
KIAA0556	23247	broad.mit.edu	37	chr16	27751578	27751578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggtgccagcggggacaagGagcttggtctcggttgctca	6	9	16	10	2	2	0	1	0	1	0	3	2	2	2	1	6	4	3	1	6	1	2			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr16:27751578G>A	ENST00000261588.4	+	15	1979	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	654										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CGGGGACAAGGAGCTTGGTCT	0.507													6	68					0	0	0	0	A	27751578	G	A	27751578	3	1	218	1	0	0	0	0	1	0	0	0	8234	1175	41	2	2018	2	KIAA0556	16	27751578	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08		27751578	62603175	37	38816											
TRPV1	7442	broad.mit.edu	37	chr17	3470183	3470183	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagaccctgaaaactgtcGcagataaacttcctcgggct	12	8	9	12	2	0	3	0	1	0	2	3	4	1	3	2	1	2	2	2	1	4	2			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr17:3470183G>A	ENST00000174621.6	-	15	2729	c.2440C>T	c.(2440-2442)Cga>Tga	p.R814*	SHPK_ENST00000572705.1_Nonsense_Mutation_p.R816*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.R816*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.R756*|TRPV1_ENST00000571088.1_Nonsense_Mutation_p.R816*|TRPV1_ENST00000399756.4_Nonsense_Mutation_p.R816*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.R827*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.R806*			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	816					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GAAAACTGTCGCAGATAAACT	0.547													5	39					0	0	0	0	A	3470183	G	A	3470183	4	1	218	1	0	0	0	0	0	1	0	0	16690	1095	38	1	77	1	TRPV1	17	3470183	Nonsense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08		3470183	77725027	38	38817											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	50					0	0	0	0	A	7577539	G	A	7577539	3	1	218	1	0	0	0	0	1	0	0	0	16476	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08	4107356	7577539	73617671	39	38818											
KCNJ12	3768	broad.mit.edu	37	chr17	21319866	21319866	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgaagccgggacggcctCagcccccaggccaggcatga	8	2	15	16	3	1	1	1	1	0	0	1	3	1	2	6	5	2	1	6	5	1	0			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr17:21319866C>T	ENST00000583088.1	+	3	2107	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	KCNJ12_ENST00000331718.5_Silent_p.L404L	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGGACGGCCTCAGCCCCCAGG	0.662										Prostate(3;0.18)			5	75					0	0	0	0	T	21319866	C	T	21319866	2	4	218	1	0	0	0	0	0	0	0	1	8099	813	29	2		2	KCNJ12	17	21319866	Silent	SNP	C	TCGA-CR-7397-01A-11D-2012-08	13742327	21319866	59875344	40	38819											
PSMD3	5709	broad.mit.edu	37	chr17	38142872	38142872	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttccgtccccgcacgggAaaagctgcgtcgacacccct	8	6	10	17	5	0	0	0	0	0	0	3	2	2	1	5	1	2	3	5	1	2	1			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr17:38142872A>G	ENST00000264639.4	+	3	630	c.456A>G	c.(454-456)ggA>ggG	p.G152G	PSMD3_ENST00000541736.1_Silent_p.G14G	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	152					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CCCGCACGGGAAAAGCTGCGT	0.512													3	184					0	0	0	0	G	38142872	A	G	38142872	2	3	218	1	0	0	0	0	0	0	0	1	12778	233	9	5		5	PSMD3	17	38142872	Silent	SNP	A	TCGA-CR-7397-01A-11D-2012-08	16823006	38142872	43052338	41	38820											
SERPINB4	6318	broad.mit.edu	37	chr18	61309020	61309020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgatacgtcttttctcCgaagagcttgttggcgatct	9	15	9	8	3	3	2	0	1	3	1	4	4	3	2	1	1	2	2	1	1	3	6			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr18:61309020C>T	ENST00000341074.5	-	4	440	c.325G>A	c.(325-327)Gga>Aga	p.G109R	SERPINB4_ENST00000356424.6_Missense_Mutation_p.G109R	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4									p.G109*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GTCTTTTCTCCGAAGAGCTTG	0.413													11	80					0	0	0	0	T	61309020	C	T	61309020	3	4	218	1	0	0	0	0	1	0	0	0	14190	661	23	1	867	1	SERPINB4	18	61309020	Missense_Mutation	SNP	C	TCGA-CR-7397-01A-11D-2012-08		61309020	16768228	42	38821											
ZNF208	7757	broad.mit.edu	37	chr19	22154658	22154658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggctttgccacattcttCacatttgtagggtttttctc	7	17	8	9	0	3	0	1	0	2	0	4	1	3	0	1	2	1	3	1	2	2	7			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:22154658C>T	ENST00000397126.4	-	4	3326	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.463													8	145					0	0	0	0	T	22154658	C	T	22154658	3	4	218	1	0	0	0	0	1	0	0	0	17861	835	29	2	668	2	ZNF208	19	22154658	Missense_Mutation	SNP	C	TCGA-CR-7397-01A-11D-2012-08		22154658	36974325	43	38822											
ZNF675	171392	broad.mit.edu	37	chr19	23836193	23836193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatcggctaaaagctttGccacattcttcacatttgta	11	13	8	9	1	2	0	1	0	1	0	3	2	2	1	1	2	2	3	1	2	3	6			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:23836193G>A	ENST00000359788.4	-	4	1710	c.1542C>T	c.(1540-1542)ggC>ggT	p.G514G	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	514				G -> S (in Ref. 1; AAK95822).	bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TAAAAGCTTTGCCACATTCTT	0.368													7	35					0	0	0	0	A	23836193	G	A	23836193	2	1	218	1	0	0	0	0	0	0	0	1	18177	1306	46	4		4	ZNF675	19	23836193	Silent	SNP	G	TCGA-CR-7397-01A-11D-2012-08	1681535	23836193	35292790	44	38823											
RINL	126432	broad.mit.edu	37	chr19	39361610	39361610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcacccaggagaccccGtgaggcgcagggttcctggg	6	7	14	14	2	1	2	1	1	0	1	2	3	2	2	5	4	0	2	5	4	0	2			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:39361610G>A	ENST00000340740.3	-	8	669	c.282C>T	c.(280-282)caC>caT	p.H94H	RINL_ENST00000591812.1_Silent_p.H208H|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Silent_p.H94H	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	94							GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						AGGAGACCCCGTGAGGCGCAG	0.672													13	96					0	0	0	0	A	39361610	G	A	39361610	2	1	218	1	0	0	0	0	0	0	0	1	13460	1136	40	1		1	RINL	19	39361610	Silent	SNP	G	TCGA-CR-7397-01A-11D-2012-08	15525417	39361610	19767373	45	38824											
FCGBP	8857	broad.mit.edu	37	chr19	40368837	40368837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccactgaaatccgcccgtCggccacggagacaggcaagg	10	3	14	14	4	0	2	0	1	0	1	2	3	1	2	4	5	0	1	4	5	2	0			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:40368837C>T	ENST00000221347.6	-	28	12518	c.12511G>A	c.(12511-12513)Gac>Aac	p.D4171N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4171	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATCCGCCCGTCGGCCACGGAG	0.617													6	433					0	0	0	0	T	40368837	C	T	40368837	3	4	218	1	0	0	0	0	1	0	0	0	5823	884	31	1	3742	1	FCGBP	19	40368837	Missense_Mutation	SNP	C	TCGA-CR-7397-01A-11D-2012-08	1007227	40368837	18760146	46	38825											
ZNF473	25888	broad.mit.edu	37	chr19	50548556	50548556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgtggcatcagaaaactCacactggagaaaaaccatgt	16	7	8	10	0	2	2	2	0	0	2	2	3	2	2	2	2	2	1	2	2	4	0			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:50548556C>G	ENST00000595661.1	+	6	1351	c.856C>G	c.(856-858)Cac>Gac	p.H286D	ZNF473_ENST00000445728.3_Missense_Mutation_p.H274D|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.H286D|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.H286D			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	286					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGAAAACTCACACTGGAGA	0.428													8	94					0	0	0	0	G	50548556	C	G	50548556	3	3	218	1	0	0	0	0	1	0	0	0	18026	826	29	2	870	2	ZNF473	19	50548556	Missense_Mutation	SNP	C	TCGA-CR-7397-01A-11D-2012-08	10179719	50548556	8580427	47	38826											
TRPM2	7226	broad.mit.edu	37	chr21	45837846	45837846	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcaggagcacacggaccaGatttggaagttccagcgcca	11	6	13	11	2	0	1	0	0	0	1	1	4	1	4	3	3	3	3	3	3	1	2			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr21:45837846G>C	ENST00000397928.1	+	21	3628	c.3183G>C	c.(3181-3183)caG>caC	p.Q1061H	TRPM2_ENST00000300481.9_Missense_Mutation_p.Q1041H|TRPM2_ENST00000300482.5_Missense_Mutation_p.Q1061H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.Q1061H	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1061						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACACGGACCAGATTTGGAAGT	0.612													4	66					0	0	0	0	C	45837846	G	C	45837846	3	2	218	1	0	0	0	0	1	0	0	0	16681	933	33	2	3265	2	TRPM2	21	45837846	Missense_Mutation	SNP	G	TCGA-CR-7397-01A-11D-2012-08		45837846	2292049	48	38827											
MTMR8	55613	broad.mit.edu	37	chrX	63444272	63444272	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatatccagctggttgatGgcttgtggctggccagcctg	6	11	15	9	0	0	1	0	1	0	0	1	2	1	2	3	5	2	4	3	5	2	3			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chrX:63444272G>A	ENST00000453546.1	-	11	2114	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A	ASB12_ENST00000396130.2_Silent_p.A291A|ASB12_ENST00000362002.2_Silent_p.A300A			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GCTGGTTGATGGCTTGTGGCT	0.507													4	36					0	0	0	0	A	63444272	G	A	63444272	2	1	218	1	0	0	0	0	0	0	0	1	10019	1335	47	4		4	MTMR8	23	63444272	Silent	SNP	G	TCGA-CR-7397-01A-11D-2012-08		63444272	91826288	49	38828											
NKAP	79576	broad.mit.edu	37	chrX	119077227	119077227	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttgtcgaggaggctaggCcaaggcttgtcgctcccgta	6	10	13	12	3	0	0	0	0	0	0	4	2	2	1	3	4	0	4	3	4	3	4			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chrX:119077227C>T	ENST00000371410.3	-	1	508	c.342G>A	c.(340-342)tgG>tgA	p.W114*		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	114					negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GGAGGCTAGGCCAAGGCTTGT	0.637													8	39					0	0	0	0	T	119077227	C	T	119077227	4	4	218	1	0	0	0	0	0	1	0	0	10509	740	26	4	941	4	NKAP	23	119077227	Nonsense_Mutation	SNP	C	TCGA-CR-7397-01A-11D-2012-08	55632955	119077227	36193333	50	38829											
PRAMEF1	65121	broad.mit.edu	37	chr1	12853591	12853591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggatcactgatgaagaCgcttcatttggagaccttaa	11	12	10	8	1	3	4	2	2	1	2	3	6	3	5	1	2	0	1	1	2	2	3	rs149382773		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:12853591C>A	ENST00000332296.7	+	2	318	c.215C>A	c.(214-216)aCg>aAg	p.T72K		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	72										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGATGAAGACGCTTCATTTG	0.547													59	97					1.88935e-48	7.42113e-48	1	0	A	12853591	C	A	12853591	3	1	219	1	0	0	0	0	1	0	0	0	12501	536	19	3	217	3	PRAMEF1	1	12853591	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08		12853591	236397030	1	38830											
PRAMEF2	65122	broad.mit.edu	37	chr1	12919600	12919600	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgttgatgagaatttctggGccagatggcctggagcctgg	8	11	15	7	0	1	3	0	2	1	2	1	5	1	4	3	4	1	1	3	4	1	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:12919600G>C	ENST00000240189.2	+	3	427	c.340G>C	c.(340-342)Gcc>Ccc	p.A114P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	114										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAATTTCTGGGCCAGATGGCC	0.557													149	238					0	0	0	0	C	12919600	G	C	12919600	3	2	219	1	0	0	0	0	1	0	0	0	12512	1203	42	4	346	4	PRAMEF2	1	12919600	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	66009	12919600	236331021	2	38831											
PRAMEF18	391003	broad.mit.edu	37	chr1	13474788	13474788	+	Frame_Shift_Del	DEL	G	G	-																															ggaccaaagaagatcctgttGggctcccttacttccctcag																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:13474788delG	ENST00000376126.2	-	3	1340	c.1341delC	c.(1339-1341)ccfs	p.P447fs		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	447										lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATCCTGTTGGGCTCCCTTA	0.562													3	6	---	---	---	---					-	13474788	G	-	13474788	7	5	219	1	0	1	0	1	0	0	0	0	12510	1335	47	0	102	0	PRAMEF18	1	13474788	Frame_Shift_Del	DEL	G	TCGA-CR-7398-01A-11D-2012-08	555188	13474788	235775833	3	38832											
OPRD1	4985	broad.mit.edu	37	chr1	29185538	29185538	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgatgcgctggccaccagCacgctgcctttccagagtgc	6	7	12	16	3	0	1	0	0	0	1	1	2	1	1	5	1	4	3	5	1	0	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:29185538C>G	ENST00000234961.2	+	2	542	c.300C>G	c.(298-300)agC>agG	p.S100R		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	100					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	TGGCCACCAGCACGCTGCCTT	0.507													41	85					0	0	0	0	G	29185538	C	G	29185538	3	3	219	1	0	0	0	0	1	0	0	0	10955	709	25	4	306	4	OPRD1	1	29185538	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	15710750	29185538	220065083	4	38833											
HMGB4	127540	broad.mit.edu	37	chr1	34329945	34329945	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcggaaaaatggagatcCatctcaaagcatgaaaaggc	16	8	10	7	1	1	2	1	1	1	1	4	4	2	3	1	3	1	2	1	3	5	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:34329945C>A	ENST00000522796.1	+	4	2058	c.153C>A	c.(151-153)tcC>tcA	p.S51S	HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Silent_p.S51S|CSMD2_ENST00000373381.4_Intron			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	51						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AATGGAGATCCATCTCAAAGC	0.403													48	84					1.61863e-15	5.41652e-15	1	0	A	34329945	C	A	34329945	2	1	219	1	0	0	0	0	0	0	0	1	7278	581	21	4		4	HMGB4	1	34329945	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	5144407	34329945	214920676	5	38834											
ZSWIM5	57643	broad.mit.edu	37	chr1	45506091	45506091	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgcttgtagatttccaGttgccgctgctgctgcaacc	6	13	10	12	1	0	2	0	1	0	1	1	2	1	2	3	0	6	7	3	0	2	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:45506091G>A	ENST00000359600.5	-	7	1934	c.1729C>T	c.(1729-1731)Ctg>Ttg	p.L577L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	577							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TAGATTTCCAGTTGCCGCTGC	0.502													46	46					0	0	0	0	A	45506091	G	A	45506091	2	1	219	1	0	0	0	0	0	0	0	1	18335	1020	36	4		4	ZSWIM5	1	45506091	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	11176146	45506091	203744530	6	38835											
C8A	731	broad.mit.edu	37	chr1	57349196	57349196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcagagttttatgataatGcaaatgaccttctttccaaa	13	14	5	9	0	2	3	1	2	1	1	3	3	3	3	3	0	1	2	3	0	4	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:57349196G>T	ENST00000361249.3	+	6	793	c.697G>T	c.(697-699)Gca>Tca	p.A233S		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	233	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TTATGATAATGCAAATGACCT	0.423													14	45					0.000308642	0.000809088	1	0	T	57349196	G	T	57349196	3	4	219	1	0	0	0	0	1	0	0	0	2439	1319	46	4	719	4	C8A	1	57349196	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	11843105	57349196	191901425	7	38836											
DIRAS3	9077	broad.mit.edu	37	chr1	68512915	68512915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggcgcggaggataagcagGgcgggcagaagccgcaaccg	12	1	18	10	5	0	1	0	0	0	1	0	3	0	3	2	5	3	3	2	5	4	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:68512915G>A	ENST00000370981.1	-	4	702	c.66C>T	c.(64-66)gcC>gcT	p.A22A	GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.A22A			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	22					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGATAAGCAGGGCGGGCAGAA	0.587													28	38					0	0	0	0	A	68512915	G	A	68512915	2	1	219	1	0	0	0	0	0	0	0	1	4569	1219	43	4		4	DIRAS3	1	68512915	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	11163719	68512915	180737706	8	38837											
PTGER3	5733	broad.mit.edu	37	chr1	71478100	71478100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagttgcattctttcTgcttctccgtgtgtgtcttg	6	17	10	8	1	4	2	0	0	4	2	5	2	4	2	1	0	2	3	1	0	2	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:71478100T>C	ENST00000370924.4	-	2	1195	c.965A>G	c.(964-966)cAg>cGg	p.Q322R	PTGER3_ENST00000306666.5_Missense_Mutation_p.Q322R|PTGER3_ENST00000354608.5_Missense_Mutation_p.Q322R|PTGER3_ENST00000460330.1_Missense_Mutation_p.Q322R|PTGER3_ENST00000414819.1_Missense_Mutation_p.Q322R|PTGER3_ENST00000356595.4_Missense_Mutation_p.Q322R|PTGER3_ENST00000351052.5_Missense_Mutation_p.Q322R|PTGER3_ENST00000370932.2_Missense_Mutation_p.Q322R|PTGER3_ENST00000370931.3_Missense_Mutation_p.Q322R	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	322					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GCATTCTTTCTGCTTCTCCGT	0.398													26	33					0	0	0	0	C	71478100	T	C	71478100	3	2	219	1	0	0	0	0	1	0	0	0	12824	1580	55	5	522	5	PTGER3	1	71478100	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	2965185	71478100	177772521	9	38838											
AK5	26289	broad.mit.edu	37	chr1	77752660	77752660	+	Frame_Shift_Del	DEL	A	A	-																															actgatgtgttctaagcccgAagatccagtagaatacttgg																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:77752660delA	ENST00000344720.5	+	2	1043	c.17delA	c.(16-18)gafs	p.E6fs	AK5_ENST00000354567.2_Frame_Shift_Del_p.E32fs|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	32					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TCTAAGCCCGAAGATCCAGTA	0.338													32	36	---	---	---	---					-	77752660	A	-	77752660	7	5	219	1	0	1	0	1	0	0	0	0	443	246	9	0	101	0	AK5	1	77752660	Frame_Shift_Del	DEL	A	TCGA-CR-7398-01A-11D-2012-08	6274560	77752660	171497961	10	38839											
ELTD1	64123	broad.mit.edu	37	chr1	79403499	79403499	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtttcttacctatatcCgttgaatttgtatcaaactc	9	18	4	10	1	2	1	1	1	1	0	4	1	3	1	3	0	2	3	3	0	6	8			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:79403499C>A	ENST00000370742.3	-	6	816	c.753G>T	c.(751-753)acG>acT	p.T251T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	251					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TACCTATATCCGTTGAATTTG	0.383													34	75					2.20474e-14	7.17737e-14	1	0	A	79403499	C	A	79403499	2	1	219	1	0	0	0	0	0	0	0	1	5122	639	23	3		3	ELTD1	1	79403499	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1650839	79403499	169847122	11	38840											
PRKACB	5567	broad.mit.edu	37	chr1	84668432	84668432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgaaatggcagctggctatCccccattctttgcagaccaa	11	10	8	12	0	1	2	0	1	1	1	2	2	2	2	3	2	2	4	3	2	3	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:84668432C>T	ENST00000370689.2	+	8	973	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	PRKACB_ENST00000370680.1_Missense_Mutation_p.P243S|PRKACB_ENST00000394839.2_Missense_Mutation_p.P207S|PRKACB_ENST00000370682.3_Missense_Mutation_p.P241S|PRKACB_ENST00000370688.3_Missense_Mutation_p.P237S|PRKACB_ENST00000370685.3_Missense_Mutation_p.P284S|PRKACB_ENST00000394838.2_Missense_Mutation_p.P244S	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	237	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		AGCTGGCTATCCCCCATTCTT	0.373													39	52					0	0	0	0	T	84668432	C	T	84668432	3	4	219	1	0	0	0	0	1	0	0	0	12578	855	30	2	930	2	PRKACB	1	84668432	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	5264933	84668432	164582189	12	38841											
ABCA4	24	broad.mit.edu	37	chr1	94485286	94485286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagaaaatcacgcagatgGcaaccacagcatccactgaa	16	5	9	11	1	1	3	1	1	0	2	2	4	2	3	2	2	2	3	2	2	4	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:94485286G>A	ENST00000370225.3	-	36	5134	c.5048C>T	c.(5047-5049)gCc>gTc	p.A1683V		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1683			Missing (in STGD1; highly reduced ATP- binding capacity).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A1683V(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CACGCAGATGGCAACCACAGC	0.522													7	21					0	0	0	0	A	94485286	G	A	94485286	3	1	219	1	0	0	0	0	1	0	0	0	34	1203	42	4	1833	4	ABCA4	1	94485286	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	9816854	94485286	154765335	13	38842											
COL11A1	1301	broad.mit.edu	37	chr1	103440441	103440441	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaggtccttgaggacccTggaaataaaaagcagtgggg	12	7	14	8	0	0	2	0	2	0	0	1	4	1	4	3	5	1	1	3	5	4	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:103440441T>A	ENST00000358392.2	-	36	3108		c.e36-2		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGAGGACCCTGGAAATAAAA	0.388													23	28					0	0	0	0	A	103440441	T	A	103440441	5	1	219	1	0	0	0	0	0	0	1	0	3697	1594	55	5	2795	5	COL11A1	1	103440441	Splice_Site	SNP	T	TCGA-CR-7398-01A-11D-2012-08	8955155	103440441	145810180	14	38843											
COL11A1	1301	broad.mit.edu	37	chr1	103444277	103444277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgtactctttcacctggaGggccaggagggccatcgcca	8	8	12	13	2	2	0	1	0	1	0	3	2	2	2	4	4	2	1	4	4	2	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:103444277G>T	ENST00000358392.2	-	35	3094	c.2777C>A	c.(2776-2778)cCt>cAt	p.P926H	COL11A1_ENST00000512756.1_Missense_Mutation_p.P798H|COL11A1_ENST00000370096.3_Missense_Mutation_p.P914H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P875H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	914	Triple-helical region.		Missing (in STL2; overlapping phenotype with Marshall syndrome).		collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCACCTGGAGGGCCAGGAGG	0.378													55	99					8.4772e-36	3.25503e-35	1	0	T	103444277	G	T	103444277	3	4	219	1	0	0	0	0	1	0	0	0	3697	1000	35	4	2811	4	COL11A1	1	103444277	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	3836	103444277	145806344	15	38844											
COL11A1	1301	broad.mit.edu	37	chr1	103461595	103461595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaccttgtggaccaggggGaccctgaaatagatgaatta	13	8	13	7	0	0	3	0	2	0	1	0	6	0	6	3	4	0	0	3	4	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:103461595G>A	ENST00000358392.2	-	27	2598	c.2281C>T	c.(2281-2283)Ccc>Tcc	p.P761S	COL11A1_ENST00000512756.1_Missense_Mutation_p.P633S|COL11A1_ENST00000370096.3_Missense_Mutation_p.P749S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P710S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	749	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGACCAGGGGGACCCTGAAAT	0.363													28	46					0	0	0	0	A	103461595	G	A	103461595	3	1	219	1	0	0	0	0	1	0	0	0	3697	1174	41	2	3339	2	COL11A1	1	103461595	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	17318	103461595	145789026	16	38845											
AMY2A	279	broad.mit.edu	37	chr1	104160135	104160135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaatacacaacaaggaCggacatctattgttcatctg	14	9	6	12	1	3	0	1	0	2	0	3	2	3	2	2	2	2	1	2	2	5	4	rs145483775	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:104160135C>T	ENST00000414303.2	+	1	137	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	25					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	ACAACAAGGACGGACATCTAT	0.443													64	111					0	0	0	0	T	104160135	C	T	104160135	3	4	219	1	0	0	0	0	1	0	0	0	594	527	19	1	75	1	AMY2A	1	104160135	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	698540	104160135	145090486	17	38846											
KCNA3	3738	broad.mit.edu	37	chr1	111216927	111216927	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttgaccggccggcggaTgcggcccccggactgatagt	6	6	15	14	6	0	2	0	2	0	0	0	4	0	4	4	5	1	1	4	5	1	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:111216927T>C	ENST00000369769.2	-	1	728	c.505A>G	c.(505-507)Atc>Gtc	p.I169V		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	169						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCCGGCGGATGCGGCCCCCG	0.632													48	68					0	0	0	0	C	111216927	T	C	111216927	3	2	219	1	0	0	0	0	1	0	0	0	8057	1464	51	5	1226	5	KCNA3	1	111216927	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	7056792	111216927	138033694	18	38847											
PDE4DIP	9659	broad.mit.edu	37	chr1	144855862	144855862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgctgctccgaagctcatGaatacctttgctgcctagca	8	11	10	12	1	1	1	1	1	0	0	2	2	2	1	3	1	7	5	3	1	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:144855862G>C	ENST00000369359.4	-	44	7137	c.7099C>G	c.(7099-7101)Cat>Gat	p.H2367D	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H2316D|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H2231D|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H2231D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H2125D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2231					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGAAGCTCATGAATACCTTTG	0.567			T	PDGFRB	MPD								4	52					0	0	0	0	C	144855862	G	C	144855862	3	2	219	1	0	0	0	0	1	0	0	0	11714	1290	45	2	365	2	PDE4DIP	1	144855862	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	33638935	144855862	104394759	19	38848											
OTUD7B	56957	broad.mit.edu	37	chr1	149916498	149916498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatggcagtcctcagaatgCtcaggctctgcatcacctcc	8	9	9	15	0	4	1	3	0	1	1	6	1	6	1	3	2	2	5	3	2	1	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:149916498C>T	ENST00000369135.3	-	12	2084	c.1790G>A	c.(1789-1791)aGc>aAc	p.S597N		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	597					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCTCAGAATGCTCAGGCTCTG	0.557													21	131					0	0	0	0	T	149916498	C	T	149916498	3	4	219	1	0	0	0	0	1	0	0	0	11390	797	28	4	745	4	OTUD7B	1	149916498	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	5060636	149916498	99334123	20	38849											
FLG	2312	broad.mit.edu	37	chr1	152282723	152282723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccgtctcctgattgttcctCatttcttgtttgcctgcttg	2	19	8	12	1	3	1	1	1	2	0	5	1	4	1	4	0	2	3	4	0	0	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:152282723C>T	ENST00000368799.1	-	3	4674	c.4639G>A	c.(4639-4641)Gag>Aag	p.E1547K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1547	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTCCTCATTTCTTGTT	0.587									Ichthyosis				168	237					0	0	0	0	T	152282723	C	T	152282723	3	4	219	1	0	0	0	0	1	0	0	0	5967	835	29	2	7550	2	FLG	1	152282723	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	2366225	152282723	96967898	21	38850											
LCE2B	26239	broad.mit.edu	37	chr1	152659536	152659536	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctggtggctgctgcCtgagccaccacaggccccgt	4	7	15	15	1	0	1	0	1	0	0	0	1	0	1	5	5	3	3	5	5	0	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:152659536C>T	ENST00000368780.3	+	2	271	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	LCE2B_ENST00000417924.2_Silent_p.L73L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	73	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTGCTGCCTGAGCCACCA	0.662													102	119					0	0	0	0	T	152659536	C	T	152659536	2	4	219	1	0	0	0	0	0	0	0	1	8719	680	24	4		4	LCE2B	1	152659536	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	376813	152659536	96591085	22	38851											
FCRL3	115352	broad.mit.edu	37	chr1	157665128	157665128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgcttacctgtgacccTgagactcactccatgactgt	8	13	7	13	0	2	3	1	3	1	1	3	4	3	3	3	0	2	1	3	0	1	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:157665128T>C	ENST00000368184.3	-	8	1693	c.1402A>G	c.(1402-1404)Agg>Ggg	p.R468G	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.R468G|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	468	Ig-like C2-type 5.					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)					CCTGTGACCCTGAGACTCACT	0.488													4	194					0	0	0	0	C	157665128	T	C	157665128	3	2	219	1	0	0	0	0	1	0	0	0	5841	1579	55	5	834	5	FCRL3	1	157665128	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	5005592	157665128	91585493	23	38852											
SPTA1	6708	broad.mit.edu	37	chr1	158595968	158595968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagtgaggaagtcaccaaGgtctgcaccattgccattgg	12	8	12	9	0	2	2	1	1	1	1	2	3	2	3	3	3	2	1	3	3	3	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:158595968G>T	ENST00000368148.3	-	42	6058	c.5878C>A	c.(5878-5880)Ctt>Att	p.L1960I	SPTA1_ENST00000368147.3_Missense_Mutation_p.L1957I|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1960					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGTCACCAAGGTCTGCACCA	0.418													16	29					3.57192e-18	1.21223e-17	1	0	T	158595968	G	T	158595968	3	4	219	1	0	0	0	0	1	0	0	0	15206	1000	35	4	1425	4	SPTA1	1	158595968	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	930840	158595968	90654653	24	38853											
SPTA1	6708	broad.mit.edu	37	chr1	158655028	158655028	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctcaagcttctgacccCtctcagcgacccgctccttg	7	10	6	18	2	3	1	2	1	2	0	6	2	5	1	5	0	2	2	5	0	2	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:158655028C>A	ENST00000368148.3	-	2	314	c.134G>T	c.(133-135)aGg>aTg	p.R45M	SPTA1_ENST00000368147.3_Missense_Mutation_p.R45M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	45			R -> S (in EL2; Clichy).|R -> T (in EL2; Anastasia).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					cttctgaccccTCTCAGCGAC	0.478													42	53					3.43241e-23	1.22747e-22	1	0	A	158655028	C	A	158655028	3	1	219	1	0	0	0	0	1	0	0	0	15206	681	24	4	7329	4	SPTA1	1	158655028	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	59060	158655028	90595593	25	38854											
OR6K2	81448	broad.mit.edu	37	chr1	158669657	158669657	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagtaggtggcagagaaGcgtaggtacatgagagtcac	15	6	15	5	1	1	3	1	1	0	3	1	5	1	3	0	3	2	4	0	3	5	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:158669657G>A	ENST00000359610.2	-	1	829	c.786C>T	c.(784-786)cgC>cgT	p.R262R		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGCAGAGAAGCGTAGGTACA	0.478													16	32					0	0	0	0	A	158669657	G	A	158669657	2	1	219	1	0	0	0	0	0	0	0	1	11273	958	34	4		4	OR6K2	1	158669657	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	14629	158669657	90580964	26	38855											
ATP1A2	477	broad.mit.edu	37	chr1	160097392	160097392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccggacggtgatgggcCgcatagctactctcgcctca	8	7	13	13	4	2	2	1	1	1	1	3	4	2	3	3	3	2	2	3	3	2	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:160097392C>T	ENST00000361216.3	+	8	888	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.R267C	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	267					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGTGATGGGCCGCATAGCTAC	0.592													31	49					0	0	0	0	T	160097392	C	T	160097392	3	4	219	1	0	0	0	0	1	0	0	0	1133	652	23	1	829	1	ATP1A2	1	160097392	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1427735	160097392	89153229	27	38856											
ILDR2	387597	broad.mit.edu	37	chr1	166927159	166927159	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgagagattgggcccGggtagaggacatgcccaagg	9	7	16	9	1	0	3	0	1	0	2	0	5	0	4	2	4	2	2	2	4	2	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:166927159G>T	ENST00000271417.3	-	2	281	c.226C>A	c.(226-228)Cgg>Agg	p.R76R	ILDR2_ENST00000469934.2_Silent_p.R76R|ILDR2_ENST00000529387.1_Silent_p.R76R|ILDR2_ENST00000529071.1_Silent_p.R76R|ILDR2_ENST00000526687.1_Silent_p.R76R|ILDR2_ENST00000525740.1_Silent_p.R76R|ILDR2_ENST00000528703.1_Silent_p.R76R	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	76	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GATTGGGCCCGGGTAGAGGAC	0.532													39	71					7.05121e-23	2.50663e-22	1	0	T	166927159	G	T	166927159	2	4	219	1	0	0	0	0	0	0	0	1	7763	1115	39	3		3	ILDR2	1	166927159	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	6829767	166927159	82323462	28	38857											
SELE	6401	broad.mit.edu	37	chr1	169699747	169699747	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaggggattccagggctgTacagttcacaactgaaaaag	13	8	11	9	0	2	1	2	1	0	0	3	2	3	2	1	3	2	3	1	3	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:169699747T>C	ENST00000333360.7	-	5	680	c.541A>G	c.(541-543)Aca>Gca	p.T181A	SELE_ENST00000367776.1_Missense_Mutation_p.T181A|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.T181A|SELE_ENST00000367774.1_Missense_Mutation_p.T181A|SELE_ENST00000367781.4_Missense_Mutation_p.T181A|SELE_ENST00000367780.4_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.T181A|SELE_ENST00000367782.4_Missense_Mutation_p.T181A	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	181	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCCAGGGCTGTACAGTTCACA	0.433													22	29					0	0	0	0	C	169699747	T	C	169699747	3	2	219	1	0	0	0	0	1	0	0	0	14100	1638	57	5	1327	5	SELE	1	169699747	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	2772588	169699747	79550874	29	38858											
PAPPA2	60676	broad.mit.edu	37	chr1	176738746	176738746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatttctctgtttctagaagGaaattctgctcacatgttct	10	17	6	8	0	5	1	1	0	4	1	6	2	5	2	0	1	1	3	0	1	4	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:176738746G>A	ENST00000367662.3	+	16	5491	c.4327G>A	c.(4327-4329)Gaa>Aaa	p.E1443K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1443	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E1443K(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTTCTAGAAGGAAATTCTGCT	0.453													13	39					0	0	0	0	A	176738746	G	A	176738746	3	1	219	1	0	0	0	0	1	0	0	0	11504	1175	41	2	4438	2	PAPPA2	1	176738746	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	7038999	176738746	72511875	30	38859											
RNASEL	6041	broad.mit.edu	37	chr1	182551297	182551297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccttagtttcctcatctgGagaaagttgaaccacctctt	9	14	7	11	0	3	2	1	1	2	1	5	3	5	2	4	1	1	2	4	1	3	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:182551297G>T	ENST00000367559.3	-	4	1916	c.1663C>A	c.(1663-1665)Cca>Aca	p.P555T	RNASEL_ENST00000539397.1_Missense_Mutation_p.P555T|RNASEL_ENST00000444138.1_Missense_Mutation_p.P555T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	555	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						tcctcatctggagaaagttga	0.488													47	110					4.66543e-40	1.8088e-39	1	0	T	182551297	G	T	182551297	3	4	219	1	0	0	0	0	1	0	0	0	13501	1174	41	2	578	2	RNASEL	1	182551297	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	5812551	182551297	66699324	31	38860											
INTS7	25896	broad.mit.edu	37	chr1	212180752	212180752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgcatgtgctgtagaatgGgtatcaattttagcttcaag	10	14	12	5	0	2	1	2	0	0	1	2	1	2	1	0	2	3	5	0	2	6	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:212180752G>A	ENST00000366994.3	-	6	700	c.596C>T	c.(595-597)cCc>cTc	p.P199L	INTS7_ENST00000366992.3_Missense_Mutation_p.P199L|INTS7_ENST00000440600.2_Missense_Mutation_p.P150L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.P199L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	199					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTGTAGAATGGGTATCAATTT	0.403													6	26					0	0	0	0	A	212180752	G	A	212180752	3	1	219	1	0	0	0	0	1	0	0	0	7836	1232	43	4	2352	4	INTS7	1	212180752	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	29629455	212180752	37069869	32	38861											
USH2A	7399	broad.mit.edu	37	chr1	216040469	216040469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctcggctcggtgtaaaacCcacactgttgtgtacgaaga	10	11	10	10	3	1	1	0	0	1	1	3	2	1	1	1	2	2	4	1	2	4	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:216040469C>G	ENST00000366943.2	-	44	9111	c.8725G>C	c.(8725-8727)Ggt>Cgt	p.G2909R	USH2A_ENST00000307340.3_Missense_Mutation_p.G2909R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2909	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTGTAAAACCCACACTGTTG	0.398										HNSCC(13;0.011)			20	40					0	0	0	0	G	216040469	C	G	216040469	3	3	219	1	0	0	0	0	1	0	0	0	17132	623	22	4	6999	4	USH2A	1	216040469	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	3859717	216040469	33210152	33	38862											
TTC13	79573	broad.mit.edu	37	chr1	231047215	231047215	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taatgacaggatattacttaCctggatcctcgagagagtgg	12	11	11	7	1	0	2	0	1	0	1	2	6	1	4	2	3	2	0	2	3	4	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:231047215C>T	ENST00000366661.4	-	20	2317		c.e20+1		TTC13_ENST00000366662.4_Splice_Site|TTC13_ENST00000414259.1_Splice_Site	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13								binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATATTACTTACCTGGATCCTC	0.313													8	14					0	0	0	0	T	231047215	C	T	231047215	5	4	219	1	0	0	0	0	0	0	1	0	16776	521	18	4	288	4	TTC13	1	231047215	Splice_Site	SNP	C	TCGA-CR-7398-01A-11D-2012-08	15006746	231047215	18203406	34	38863											
RYR2	6262	broad.mit.edu	37	chr1	237942010	237942010	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttggcacacagcaggctGtgggatgctgtggtcggctt	6	11	16	8	1	0	0	0	0	0	0	1	1	0	1	0	5	2	6	0	5	0	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:237942010G>T	ENST00000366574.2	+	88	12137	c.11820G>T	c.(11818-11820)ctG>ctT	p.L3940L	RYR2_ENST00000542537.1_Silent_p.L3924L|RYR2_ENST00000360064.6_Silent_p.L3946L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3940					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAGCAGGCTGTGGGATGCTG	0.443													27	43					3.57733e-08	1.0402e-07	1	0	T	237942010	G	T	237942010	2	4	219	1	0	0	0	0	0	0	0	1	13854	1364	48	4		4	RYR2	1	237942010	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	6894795	237942010	11308611	35	38864											
NLRP3	114548	broad.mit.edu	37	chr1	247599293	247599293	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcagctgctgcctcacAtcagcatgttgtcaggatct	7	13	10	11	0	5	0	4	0	1	0	5	1	5	1	1	2	4	4	1	2	0	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:247599293A>G	ENST00000336119.3	+	6	3266	c.2520A>G	c.(2518-2520)acA>acG	p.T840T	NLRP3_ENST00000391827.2_Silent_p.T783T|NLRP3_ENST00000391828.3_Silent_p.T840T|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000348069.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	840					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCTGCCTCACATCAGCATGTT	0.537													22	48					0	0	0	0	G	247599293	A	G	247599293	2	3	219	1	0	0	0	0	0	0	0	1	10548	204	8	5		5	NLRP3	1	247599293	Silent	SNP	A	TCGA-CR-7398-01A-11D-2012-08	9657283	247599293	1651328	36	38865											
OR11L1	391189	broad.mit.edu	37	chr1	248004498	248004499	+	Frame_Shift_Ins	INS	-	-	A																															tgtggaaaaggtctttctccINSggccagaggtggaagggatt																								rs147783465	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:248004498_248004499insA	ENST00000355784.2	-	1	755_756	c.700_701insT	c.(700-702)gagfs	p.E234fs		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234Q(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTCTTTCTCCGGCCAGAGGTG	0.505													21	65	---	---	---	---					A	248004499	-	A	248004498	7	5	219	1	0	1	1	0	0	0	0	0	11001	652	23	0	271	0	OR11L1	1	248004498	Frame_Shift_Ins	INS	-	TCGA-CR-7398-01A-11D-2012-08	405205	248004498	1246123	37	38866											
OR14C36	127066	broad.mit.edu	37	chr1	248512790	248512790	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacaaaggccttttccacCtgcatccctcacatcctggt	10	10	6	15	0	1	1	1	0	0	1	4	1	4	1	5	2	2	1	5	2	2	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:248512790C>G	ENST00000317861.1	+	1	714	c.714C>G	c.(712-714)acC>acG	p.T238T		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CCTTTTCCACCTGCATCCCTC	0.522													34	48					0	0	0	0	G	248512790	C	G	248512790	2	3	219	1	0	0	0	0	0	0	0	1	11017	668	24	4		4	OR14C36	1	248512790	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	508292	248512790	737831	38	38867											
NBAS	51594	broad.mit.edu	37	chr2	15679480	15679480	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggtttcgggtctttcggaActagaacaaaagaaaacaag	15	8	12	6	2	1	2	0	0	1	2	3	3	1	3	0	4	3	1	0	4	8	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:15679480A>T	ENST00000281513.5	-	7	405	c.379_splice	c.e7-1	p.V127_splice	NBAS_ENST00000441750.1_Splice_Site_p.V127_splice	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	127										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTCTTTCGGAACTAGAACAAA	0.398													5	39					0	0	0	0	T	15679480	A	T	15679480	5	4	219	1	0	0	0	0	0	0	1	0	10256	57	2	5	6919	5	NBAS	2	15679480	Splice_Site	SNP	A	TCGA-CR-7398-01A-11D-2012-08		15679480	227519893	39	38868											
CIB4	130106	broad.mit.edu	37	chr2	26852280	26852280	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatcctggactcacccGcagagctggcagggagctga	9	5	12	15	1	1	2	1	1	0	1	2	4	2	4	4	3	2	4	4	3	0	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:26852280G>T	ENST00000288861.4	-	3	237	c.184C>A	c.(184-186)Cgg>Agg	p.R62R		NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	62	EF-hand 1.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTCACCCGCAGAGCTGGC	0.622													4	9					0.000602214	0.00157179	1	0	T	26852280	G	T	26852280	2	4	219	1	0	0	0	0	0	0	0	1	3452	1086	38	3		3	CIB4	2	26852280	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	11172800	26852280	216347093	40	38869											
KHK	3795	broad.mit.edu	37	chr2	27322328	27322328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgaggagggcgccgacGccctgggccctgatggcaaa	7	4	18	12	3	0	2	0	2	0	0	0	4	0	3	3	5	0	2	3	5	1	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:27322328G>T	ENST00000260599.6	+	7	1207	c.694G>T	c.(694-696)Gcc>Tcc	p.A232S	KHK_ENST00000490823.1_3'UTR|CGREF1_ENST00000402550.1_3'UTR|CGREF1_ENST00000452318.2_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.A232S	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	232					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	p.A232S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCGCCGACGCCCTGGGCCC	0.652													17	70					1.56452e-12	5.0115e-12	1	0	T	27322328	G	T	27322328	3	4	219	1	0	0	0	0	1	0	0	0	8200	1087	38	3	859	3	KHK	2	27322328	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	470048	27322328	215877045	41	38870											
SNX17	9784	broad.mit.edu	37	chr2	27596131	27596131	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagttcggcaagacccattgCttgggagcagcgagactttc	9	10	12	10	2	0	2	0	0	0	2	2	4	0	3	1	2	3	4	1	2	2	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:27596131C>A	ENST00000542478.1	+	0	301				SNX17_ENST00000233575.2_Missense_Mutation_p.L92I|SNX17_ENST00000543024.1_De_novo_Start_OutOfFrame|SNX17_ENST00000537606.1_Missense_Mutation_p.L67I			Q15036	SNX17_HUMAN	sorting nexin 17						cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACCCATTGCTTGGGAGCAG	0.527													17	68					0.000958276	0.00249027	1	0	A	27596131	C	A	27596131	1	1	219	1	0	0	0	0	0	0	0	0	14976	797	28	4		4	SNX17	2	27596131	Translation_Start_Site	SNP	C	TCGA-CR-7398-01A-11D-2012-08	273803	27596131	215603242	42	38871											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27898488	27898488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgataggactggcctgattGagaagaagcgtctgaacaga	13	9	13	6	1	1	6	0	4	1	3	1	8	1	7	1	2	2	0	1	2	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:27898488G>A	ENST00000326019.6	+	6	1717	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	479						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TGGCCTGATTGAGAAGAAGCG	0.413													12	36					0	0	0	0	A	27898488	G	A	27898488	3	1	219	1	0	0	0	0	1	0	0	0	14741	1291	45	2	1457	2	SLC4A1AP	2	27898488	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	302357	27898488	215300885	43	38872											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48873734	48873734	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgttccacaattgaatccAtggtctcttcaagcaactac	12	12	6	11	0	2	1	1	1	1	0	5	1	4	1	2	1	3	2	2	1	5	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:48873734A>G	ENST00000394754.1	+	8	2757	c.2643A>G	c.(2641-2643)ccA>ccG	p.P881P	GTF2A1L_ENST00000430487.2_Silent_p.P143P|STON1-GTF2A1L_ENST00000394751.3_Silent_p.P834P|STON1-GTF2A1L_ENST00000402114.2_Silent_p.P881P|GTF2A1L_ENST00000403751.3_Silent_p.P177P|LHCGR_ENST00000420913.3_5'UTR|STON1-GTF2A1L_ENST00000309827.2_Silent_p.P881P|STON1-GTF2A1L_ENST00000405008.1_Silent_p.P881P	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		834					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATTGAATCCATGGTCTCTTC	0.428													39	32					0	0	0	0	G	48873734	A	G	48873734	2	3	219	1	0	0	0	0	0	0	0	1	15407	204	8	5		5	STON1-GTF2A1L	2	48873734	Silent	SNP	A	TCGA-CR-7398-01A-11D-2012-08	20975246	48873734	194325639	44	38873											
FAM136A	84908	broad.mit.edu	37	chr2	70527991	70527991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaacttctccagctcaCtggtgaccaaagcctgggct	8	9	10	14	0	2	1	1	1	1	0	3	2	2	2	4	3	3	2	4	3	2	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:70527991C>T	ENST00000037869.3	-	2	287	c.209G>A	c.(208-210)aGt>aAt	p.S70N	FAM136A_ENST00000450256.1_3'UTR|FAM136A_ENST00000430566.1_Missense_Mutation_p.S177N	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	70						mitochondrion	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CTCCAGCTCACTGGTGACCAA	0.522													65	145					0	0	0	0	T	70527991	C	T	70527991	3	4	219	1	0	0	0	0	1	0	0	0	5491	565	20	4	215	4	FAM136A	2	70527991	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	21654257	70527991	172671382	45	38874											
DYSF	8291	broad.mit.edu	37	chr2	71909661	71909661	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggatctcgcttccaggCgccccgacacctccttcctg	4	9	9	19	4	1	0	0	0	1	0	6	2	5	1	7	2	0	1	7	2	0	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:71909661C>A	ENST00000258104.3	+	54	6335	c.6056_splice	c.e54-1	p.R2020_splice	DYSF_ENST00000409582.3_Splice_Site_p.R2058_splice|DYSF_ENST00000429174.2_Splice_Site_p.R2041_splice|DYSF_ENST00000409744.1_Splice_Site_p.R2028_splice|DYSF_ENST00000413539.2_Splice_Site_p.R2051_splice|DYSF_ENST00000410020.3_Splice_Site_p.R2059_splice|DYSF_ENST00000410041.1_Splice_Site_p.R2038_splice|DYSF_ENST00000409762.1_Splice_Site_p.R2037_splice|DYSF_ENST00000409651.1_Splice_Site_p.R2052_splice|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Splice_Site_p.R2021_splice|DYSF_ENST00000409366.1_Splice_Site_p.R2042_splice	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2020						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGCTTCCAGGCGCCCCGACAC	0.567													34	99					1.71298e-08	5.01748e-08	1	0	A	71909661	C	A	71909661	5	1	219	1	0	0	0	0	0	0	1	0	4895	782	27	3	6531	3	DYSF	2	71909661	Splice_Site	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1381670	71909661	171289712	46	38875											
SLC4A5	57835	broad.mit.edu	37	chr2	74452068	74452068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcaatccaggccaggtCgtgctgggaaaagatgaaat	12	9	13	7	1	1	2	1	1	0	1	3	3	2	3	2	3	1	2	2	3	4	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:74452068C>A	ENST00000394019.2	-	28	3542	c.3145G>T	c.(3145-3147)Gac>Tac	p.D1049Y	SLC4A5_ENST00000359484.4_Missense_Mutation_p.D947Y|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R989L|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.D968Y|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.D1065Y|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D947Y|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D1065Y|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D968Y	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	1065						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGGCCAGGTCGTGCTGGGAA	0.473													36	95					2.04263e-09	6.24254e-09	1	0	A	74452068	C	A	74452068	3	1	219	1	0	0	0	0	1	0	0	0	14745	884	31	3	232	3	SLC4A5	2	74452068	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	2542407	74452068	168747305	47	38876											
CTNNA2	1496	broad.mit.edu	37	chr2	80846291	80846291	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagggctagtcaactttctAcccacctcccaacctgtgct	8	10	7	16	0	2	0	1	0	1	0	3	0	3	0	4	1	4	3	4	1	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:80846291A>T	ENST00000402739.4	+	17	2517	c.2512A>T	c.(2512-2514)Acc>Tcc	p.T838S	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000343114.3_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	838					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCAACTTTCTACCCACCTCCC	0.463													8	6					0	0	0	0	T	80846291	A	T	80846291	3	4	219	1	0	0	0	0	1	0	0	0	4045	406	14	5		5	CTNNA2	2	80846291	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	6394223	80846291	162353082	48	38877											
GPR45	11250	broad.mit.edu	37	chr2	105858978	105858978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatgtgcatcctcaacacGgtccgcaagaacgccgtgcg	10	7	10	14	5	1	1	1	0	0	1	3	1	3	1	3	1	5	2	3	1	4	1	rs141451236		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:105858978G>A	ENST00000258456.1	+	1	779	c.663G>A	c.(661-663)acG>acA	p.T221T		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	221						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCCTCAACACGGTCCGCAAGA	0.677													29	56					0	0	0	0	A	105858978	G	A	105858978	2	1	219	1	0	0	0	0	0	0	0	1	6745	1103	39	1		1	GPR45	2	105858978	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	25012687	105858978	137340395	49	38878											
MERTK	10461	broad.mit.edu	37	chr2	112754924	112754924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtagattatgccccctcttCaactccggcgcctggcaacg	7	9	10	15	3	2	1	1	0	1	1	3	1	3	1	4	3	3	2	4	3	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:112754924C>T	ENST00000295408.4	+	10	1732	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L	MERTK_ENST00000409780.1_Missense_Mutation_p.S316L|MERTK_ENST00000421804.2_Missense_Mutation_p.S492L			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	492					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCCCCCTCTTCAACTCCGGCG	0.443													87	165					0	0	0	0	T	112754924	C	T	112754924	3	4	219	1	0	0	0	0	1	0	0	0	9548	838	29	2	1513	2	MERTK	2	112754924	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	6895946	112754924	130444449	50	38879											
DPP10	57628	broad.mit.edu	37	chr2	116534814	116534814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaattaccgtgcggcatCtgacatcaggaaactgggaa	14	7	11	9	2	2	1	1	1	1	0	2	3	2	3	1	3	4	2	1	3	4	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:116534814C>A	ENST00000410059.1	+	14	1732	c.1252C>A	c.(1252-1254)Ctg>Atg	p.L418M	DPP10_ENST00000393147.2_Missense_Mutation_p.L422M|DPP10_ENST00000409163.1_Missense_Mutation_p.L368M|DPP10_ENST00000310323.8_Missense_Mutation_p.L411M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	418					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CGTGCGGCATCTGACATCAGG	0.378													9	20					3.86212e-05	0.000103508	1	0	A	116534814	C	A	116534814	3	1	219	1	0	0	0	0	1	0	0	0	4763	912	32	2	1477	2	DPP10	2	116534814	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	3779890	116534814	126664559	51	38880											
DDX18	8886	broad.mit.edu	37	chr2	118582663	118582663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactacattgatttgcccGtcttggccattcatgtaagt	9	15	8	9	1	2	2	1	2	1	0	2	2	2	2	2	1	3	1	2	1	3	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:118582663G>T	ENST00000263239.2	+	9	1482	c.1354G>T	c.(1354-1356)Gtc>Ttc	p.V452F		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	452	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.V452I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGATTTGCCCGTCTTGGCCAT	0.388													48	70					2.13883e-14	6.98179e-14	1	0	T	118582663	G	T	118582663	3	4	219	1	0	0	0	0	1	0	0	0	4377	1145	40	3	1388	3	DDX18	2	118582663	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	2047849	118582663	124616710	52	38881											
LRP1B	53353	broad.mit.edu	37	chr2	141816540	141816540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atatcagtcccattaaatcgGtttatccttacgatattgta	12	16	5	8	2	1	0	1	0	0	0	4	1	3	0	2	1	1	2	2	1	7	8			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:141816540G>T	ENST00000389484.3	-	9	2291	c.1320C>A	c.(1318-1320)aaC>aaA	p.N440K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	440					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTAAATCGGTTTATCCTTA	0.323										TSP Lung(27;0.18)			23	58					1.55795e-14	5.09951e-14	1	0	T	141816540	G	T	141816540	3	4	219	1	0	0	0	0	1	0	0	0	9019	1252	44	4	12811	4	LRP1B	2	141816540	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	23233877	141816540	101382833	53	38882											
CYTIP	9595	broad.mit.edu	37	chr2	158272457	158272457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccgactgaaggcacccCtgctggagtcctcagacaca	9	7	10	15	1	2	2	1	1	1	1	3	4	3	3	4	2	2	2	4	2	1	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:158272457C>A	ENST00000264192.3	-	8	933	c.812G>T	c.(811-813)aGg>aTg	p.R271M	CYTIP_ENST00000540637.1_Missense_Mutation_p.R165M	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	271	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GAAGGCACCCCTGCTGGAGTC	0.532													23	48					2.98393e-07	8.45095e-07	1	0	A	158272457	C	A	158272457	3	1	219	1	0	0	0	0	1	0	0	0	4239	681	24	4	271	4	CYTIP	2	158272457	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	16455917	158272457	84926916	54	38883											
SLC4A10	57282	broad.mit.edu	37	chr2	162761344	162761344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatagcctattctctctttgGtggacagcctcttaccatat	8	15	7	11	0	3	0	0	0	3	0	4	2	3	1	3	2	3	0	3	2	4	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:162761344G>T	ENST00000375514.5	+	14	1906	c.1619G>T	c.(1618-1620)gGt>gTt	p.G540V	SLC4A10_ENST00000446997.1_Missense_Mutation_p.G559V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.G529V|SLC4A10_ENST00000415876.2_Missense_Mutation_p.G529V|SLC4A10_ENST00000421911.1_Missense_Mutation_p.G559V	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	559					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCTCTCTTTGGTGGACAGCCT	0.393													47	62					2.55665e-31	9.66203e-31	1	0	T	162761344	G	T	162761344	3	4	219	1	0	0	0	0	1	0	0	0	14739	1261	44	4	1815	4	SLC4A10	2	162761344	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	4488887	162761344	80438029	55	38884											
KCNH7	90134	broad.mit.edu	37	chr2	163292054	163292054	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatccagtttcctggccacGcgcacaagacggaggagtcg	9	6	13	13	5	0	1	0	0	0	1	3	4	2	3	3	3	0	2	3	3	1	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:163292054G>T	ENST00000332142.5	-	8	1707	c.1608C>A	c.(1606-1608)cgC>cgA	p.R536R	KCNH7_ENST00000328032.4_Silent_p.R529R	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	536					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCCTGGCCACGCGCACAAGAC	0.453													18	24					3.52763e-06	9.6929e-06	1	0	T	163292054	G	T	163292054	2	4	219	1	0	0	0	0	0	0	0	1	8090	1074	38	3		3	KCNH7	2	163292054	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	530710	163292054	79907319	56	38885											
SCN3A	6328	broad.mit.edu	37	chr2	165947639	165947639	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttaacataggcaaagttgGacatcccaaagatggcatag	15	10	9	7	0	0	1	0	0	0	1	1	2	1	2	1	3	1	3	1	3	5	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:165947639G>C	ENST00000360093.3	-	28	5515	c.5024C>G	c.(5023-5025)tCc>tGc	p.S1675C	SCN3A_ENST00000409101.3_Missense_Mutation_p.S1626C|SCN3A_ENST00000283254.7_Missense_Mutation_p.S1675C|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Missense_Mutation_p.S158C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1675						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GGCAAAGTTGGACATCCCAAA	0.443													67	99					0	0	0	0	C	165947639	G	C	165947639	3	2	219	1	0	0	0	0	1	0	0	0	14005	1174	41	2	982	2	SCN3A	2	165947639	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	2655585	165947639	77251734	57	38886											
XIRP2	129446	broad.mit.edu	37	chr2	168106105	168106105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctatgaaagtcataaacagCaatctgagattgatgttcaa	16	11	8	6	0	3	3	2	3	1	1	3	4	3	3	0	0	2	3	0	0	6	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:168106105C>A	ENST00000409195.1	+	9	8292	c.8203C>A	c.(8203-8205)Caa>Aaa	p.Q2735K	XIRP2_ENST00000295237.9_Missense_Mutation_p.Q2735K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2513K|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2560					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						TCATAAACAGCAATCTGAGAT	0.343													21	39					2.4624e-09	7.46823e-09	1	0	A	168106105	C	A	168106105	3	1	219	1	0	0	0	0	1	0	0	0	17526	711	25	4	8233	4	XIRP2	2	168106105	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	2158466	168106105	75093268	58	38887											
LRP2	4036	broad.mit.edu	37	chr2	170055350	170055350	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcattgtctccgtcacAcaaataaacgcgaggaatac	15	8	7	11	3	3	0	2	0	1	0	4	2	3	1	1	1	2	0	1	1	5	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:170055350A>G	ENST00000263816.3	-	45	8809	c.8524T>C	c.(8524-8526)Tgt>Cgt	p.C2842R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2842	LDL-receptor class A 19.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCTCCGTCACACAAATAAACG	0.368													12	28					0	0	0	0	G	170055350	A	G	170055350	3	3	219	1	0	0	0	0	1	0	0	0	9020	159	6	5	5583	5	LRP2	2	170055350	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	1949245	170055350	73144023	59	38888											
LRP2	4036	broad.mit.edu	37	chr2	170058313	170058313	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcattgtagtaatcacaGcggtaagagtattggacaca	14	10	10	7	1	2	1	2	0	0	1	2	2	2	2	0	2	1	4	0	2	4	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:170058313G>T	ENST00000263816.3	-	44	8562	c.8277C>A	c.(8275-8277)cgC>cgA	p.R2759R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2759	LDL-receptor class A 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTAATCACAGCGGTAAGAGT	0.498													17	39					3.45872e-05	9.29046e-05	1	0	T	170058313	G	T	170058313	2	4	219	1	0	0	0	0	0	0	0	1	9020	958	34	4		4	LRP2	2	170058313	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	2963	170058313	73141060	60	38889											
TTN	7273	broad.mit.edu	37	chr2	179614488	179614488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccttaatatataattggtgGctacaattaacttcttcaaa	14	16	4	7	0	2	0	1	0	1	0	3	0	3	0	1	2	2	1	1	2	8	9			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:179614488G>T	ENST00000360870.5	-	46	12861	c.12639C>A	c.(12637-12639)agC>agA	p.S4213R	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3557							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)			ATAATTGGTGGCTACAATTAA	0.348													14	29					7.93312e-07	2.22053e-06	1	0	T	179614488	G	T	179614488	3	4	219	1	0	0	0	0	1	0	0	0	16831	1194	42	4	97658	4	TTN	2	179614488	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	9556175	179614488	63584885	61	38890											
TTN	7273	broad.mit.edu	37	chr2	179659867	179659867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccctcttgcttccaaggggGaggcacttcaggacctgtgg	6	9	14	12	0	2	0	1	0	1	0	3	2	3	2	3	5	1	2	3	5	1	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:179659867G>T	ENST00000589042.1	-	7	1251	c.1027C>A	c.(1027-1029)Ccc>Acc	p.P343T	TTN_ENST00000591111.1_Missense_Mutation_p.P343T|TTN_ENST00000342992.6_Missense_Mutation_p.P343T|TTN_ENST00000360870.5_Missense_Mutation_p.P343T|TTN_ENST00000342175.6_Missense_Mutation_p.P343T|TTN_ENST00000359218.5_Missense_Mutation_p.P343T|TTN_ENST00000460472.2_Missense_Mutation_p.P343T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	343							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)			TTCCAAGGGGGAGGCACTTCA	0.547													30	46					1.38854e-25	5.05615e-25	1	0	T	179659867	G	T	179659867	3	4	219	1	0	0	0	0	1	0	0	0	16831	1174	41	2	110385	2	TTN	2	179659867	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	45379	179659867	63539506	62	38891											
SSFA2	6744	broad.mit.edu	37	chr2	182783380	182783380	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatatagtactcagaaatCatctgttctacctctttatg	11	16	4	10	0	5	1	2	0	3	1	6	1	6	1	2	0	2	2	2	0	6	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:182783380C>G	ENST00000431877.2	+	12	3022	c.2843C>G	c.(2842-2844)tCa>tGa	p.S948*	SSFA2_ENST00000320370.7_Nonsense_Mutation_p.S948*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.S948*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.S795*|SSFA2_ENST00000409136.1_Nonsense_Mutation_p.S457*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	948						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACTCAGAAATCATCTGTTCTA	0.313													30	46					0	0	0	0	G	182783380	C	G	182783380	4	3	219	1	0	0	0	0	0	1	0	0	15273	838	29	2	2889	2	SSFA2	2	182783380	Nonsense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	3123513	182783380	60415993	63	38892											
NCKAP1	10787	broad.mit.edu	37	chr2	183818048	183818048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgattatacatagtcatcCcaacaattgacctgggaaga	14	11	7	9	0	1	3	1	2	0	1	2	4	2	4	2	1	2	0	2	1	6	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:183818048C>A	ENST00000360982.2	-	22	2941	c.2183G>T	c.(2182-2184)gGg>gTg	p.G728V	NCKAP1_ENST00000361354.3_Missense_Mutation_p.G722V	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	722					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CATAGTCATCCCAACAATTGA	0.363													15	27					4.7546e-09	1.41692e-08	1	0	A	183818048	C	A	183818048	3	1	219	1	0	0	0	0	1	0	0	0	10291	623	22	4	1265	4	NCKAP1	2	183818048	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1034668	183818048	59381325	64	38893											
COL5A2	1290	broad.mit.edu	37	chr2	189909940	189909940	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctcgaccaggtggtcCtataggaccccgagaaccct	9	6	10	16	2	0	1	0	0	0	1	2	4	1	2	6	3	2	1	6	3	3	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:189909940C>A	ENST00000374866.3	-	47	3602	c.3328G>T	c.(3328-3330)Gga>Tga	p.G1110*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1110					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGGTGGTCCTATAGGACCC	0.323													12	17					2.62699e-14	8.52881e-14	1	0	A	189909940	C	A	189909940	4	1	219	1	0	0	0	0	0	1	0	0	3727	690	24	4	1203	4	COL5A2	2	189909940	Nonsense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	6091892	189909940	53289433	65	38894											
SDPR	8436	broad.mit.edu	37	chr2	192701281	192701281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttttcctcggcactgtcttCcagggcctcctcatcgtggg	3	13	10	15	2	2	0	1	0	1	0	7	0	5	0	4	3	0	1	4	3	0	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:192701281C>G	ENST00000304141.4	-	2	975	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	216						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCACTGTCTTCCAGGGCCTCC	0.502													47	79					0	0	0	0	G	192701281	C	G	192701281	3	3	219	1	0	0	0	0	1	0	0	0	14057	864	30	2	635	2	SDPR	2	192701281	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	2791341	192701281	50498092	66	38895											
AOX1	316	broad.mit.edu	37	chr2	201476122	201476122	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagaaggaaaacgacagaTtcctttaaatgagcaattcc	17	8	7	9	1	0	3	0	1	0	2	2	5	2	4	2	1	2	1	2	1	6	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:201476122T>C	ENST00000374700.2	+	13	1410	c.1169T>C	c.(1168-1170)aTt>aCt	p.I390T	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	390	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AAACGACAGATTCCTTTAAAT	0.398													68	102					0	0	0	0	C	201476122	T	C	201476122	3	2	219	1	0	0	0	0	1	0	0	0	730	1493	52	5	1219	5	AOX1	2	201476122	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	8774841	201476122	41723251	67	38896											
AOX1	316	broad.mit.edu	37	chr2	201507394	201507394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcccaatctccgctgccGgggttgggcatgcagaacca	7	9	12	13	2	1	1	0	0	1	1	3	1	2	1	4	3	3	5	4	3	2	2	rs139407288		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:201507394G>A	ENST00000374700.2	+	25	2958	c.2717G>A	c.(2716-2718)cGg>cAg	p.R906Q	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	906					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTCCGCTGCCGGGGTTGGGCA	0.473													22	37					0	0	0	0	A	201507394	G	A	201507394	3	1	219	1	0	0	0	0	1	0	0	0	730	1116	39	1	2815	1	AOX1	2	201507394	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	31272	201507394	41691979	68	38897											
PTH2R	5746	broad.mit.edu	37	chr2	209308142	209308142	+	Frame_Shift_Del	DEL	C	C	-																															ttcatgctgagagctacaagCatctttgtcaaagacagagt																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:209308142delC	ENST00000272847.2	+	6	792	c.579delC	c.(577-579)agfs	p.S193fs	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	193						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GAGCTACAAGCATCTTTGTCA	0.398													24	33	---	---	---	---					-	209308142	C	-	209308142	7	5	219	1	0	1	0	1	0	0	0	0	12840	709	25	0	601	0	PTH2R	2	209308142	Frame_Shift_Del	DEL	C	TCGA-CR-7398-01A-11D-2012-08	7800748	209308142	33891231	69	38898											
MAP2	4133	broad.mit.edu	37	chr2	210545497	210545497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgaagaaacagctaatctgCctccttctccacccccatca	11	9	4	17	0	3	2	1	1	2	1	5	2	4	2	5	0	3	1	5	0	3	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:210545497C>T	ENST00000360351.4	+	6	906	c.400C>T	c.(400-402)Cct>Tct	p.P134S	MAP2_ENST00000392194.1_Missense_Mutation_p.P134S|MAP2_ENST00000361559.4_Missense_Mutation_p.P134S|MAP2_ENST00000447185.1_Missense_Mutation_p.P134S|MAP2_ENST00000199940.6_Missense_Mutation_p.P134S	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	134					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGCTAATCTGCCTCCTTCTCC	0.433													88	147					0	0	0	0	T	210545497	C	T	210545497	3	4	219	1	0	0	0	0	1	0	0	0	9304	739	26	4	410	4	MAP2	2	210545497	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1237355	210545497	32653876	70	38899											
ACADL	33	broad.mit.edu	37	chr2	211057583	211057583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatggagctgtacacagtCgtaagctacactattttgta	11	13	8	9	1	0	0	0	0	0	0	2	1	1	1	1	1	4	5	1	1	5	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:211057583C>A	ENST00000233710.3	-	10	1371	c.1144G>T	c.(1144-1146)Gac>Tac	p.D382Y	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	382					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TGTACACAGTCGTAAGCTACA	0.373													8	23					0.00307968	0.00791729	1	0	A	211057583	C	A	211057583	3	1	219	1	0	0	0	0	1	0	0	0	112	884	31	3	156	3	ACADL	2	211057583	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	512086	211057583	32141790	71	38900											
FN1	2335	broad.mit.edu	37	chr2	216248799	216248799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggctgtctccacggccaGtgacagcatacacagtgatg	9	7	13	12	2	1	2	0	2	1	0	2	2	1	2	2	3	2	2	2	3	1	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:216248799G>T	ENST00000354785.4	-	30	5207	c.4838C>A	c.(4837-4839)aCt>aAt	p.T1613N	FN1_ENST00000323926.6_Missense_Mutation_p.T1613N|FN1_ENST00000446046.1_Missense_Mutation_p.T1522N|FN1_ENST00000443816.1_Missense_Mutation_p.T1522N|FN1_ENST00000421182.1_Missense_Mutation_p.T1522N|FN1_ENST00000432072.2_Missense_Mutation_p.T1613N|FN1_ENST00000345488.5_Missense_Mutation_p.T1522N|FN1_ENST00000336916.4_Missense_Mutation_p.T1522N|FN1_ENST00000359671.1_Missense_Mutation_p.T1522N|FN1_ENST00000346544.3_Missense_Mutation_p.T1522N|FN1_ENST00000357009.2_Missense_Mutation_p.T1522N|FN1_ENST00000356005.4_Missense_Mutation_p.T1522N|FN1_ENST00000357867.4_Missense_Mutation_p.T1522N			P02751	FINC_HUMAN	fibronectin 1	1616	Fibronectin type-III 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCACGGCCAGTGACAGCATA	0.498													37	57					4.46736e-08	1.29586e-07	1	0	T	216248799	G	T	216248799	3	4	219	1	0	0	0	0	1	0	0	0	6007	1029	36	4	2663	4	FN1	2	216248799	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	5191216	216248799	26950574	72	38901											
FN1	2335	broad.mit.edu	37	chr2	216271041	216271041	+	Frame_Shift_Del	DEL	G	G	-																															tgaagtaataggtgaccccaGgggacagcccggtgacttct																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:216271041delG	ENST00000354785.4	-	19	3275	c.2906delC	c.(2905-2907)ctfs	p.P969fs	FN1_ENST00000446046.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000421182.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000432072.2_Frame_Shift_Del_p.P969fs|FN1_ENST00000443816.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000357009.2_Frame_Shift_Del_p.P969fs|FN1_ENST00000359671.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000356005.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000346544.3_Frame_Shift_Del_p.P969fs|FN1_ENST00000323926.6_Frame_Shift_Del_p.P969fs|FN1_ENST00000357867.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000336916.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000345488.5_Frame_Shift_Del_p.P969fs			P02751	FINC_HUMAN	fibronectin 1	969	Fibronectin type-III 4.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGACCCCAGGGGACAGCCC	0.567													27	51	---	---	---	---					-	216271041	G	-	216271041	7	5	219	1	0	1	0	1	0	0	0	0	6007	1000	35	0	4639	0	FN1	2	216271041	Frame_Shift_Del	DEL	G	TCGA-CR-7398-01A-11D-2012-08	22242	216271041	26928332	73	38902											
CYP27A1	1593	broad.mit.edu	37	chr2	219677281	219677281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcactactcagctatttGctacatcctgttcgagaaac	10	13	7	11	1	1	1	1	0	0	1	3	2	2	1	1	0	6	4	1	0	4	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:219677281G>T	ENST00000258415.4	+	4	1080	c.653G>T	c.(652-654)tGc>tTc	p.C218F		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	218					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TCAGCTATTTGCTACATCCTG	0.547													118	155					7.7863e-71	3.06842e-70	1	0	T	219677281	G	T	219677281	3	4	219	1	0	0	0	0	1	0	0	0	4190	1319	46	4	667	4	CYP27A1	2	219677281	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	3406240	219677281	23522092	74	38903											
SPHKAP	80309	broad.mit.edu	37	chr2	228884716	228884716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgttaggttttctggagatCgttctgttttaatcaatggt	7	20	10	4	1	3	1	1	0	2	1	4	2	3	1	0	3	0	4	0	3	3	7	rs145402025		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:228884716C>G	ENST00000392056.3	-	7	900	c.854G>C	c.(853-855)cGa>cCa	p.R285P	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R285P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	285						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCTGGAGATCGTTCTGTTTT	0.443													73	137					0	0	0	0	G	228884716	C	G	228884716	3	3	219	1	0	0	0	0	1	0	0	0	15138	884	31	3	4272	3	SPHKAP	2	228884716	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	9207435	228884716	14314657	75	38904											
MLPH	79083	broad.mit.edu	37	chr2	238449173	238449173	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcccccaggcggacccGgaggtaagactatcccccag	8	5	10	18	2	1	1	0	0	1	1	3	3	2	3	6	4	0	1	6	4	2	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:238449173G>T	ENST00000264605.3	+	10	1581	c.1287G>T	c.(1285-1287)ccG>ccT	p.P429P	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.P429P|MLPH_ENST00000410032.1_Silent_p.P286P|MLPH_ENST00000338530.4_Silent_p.P401P|MLPH_ENST00000409373.1_Silent_p.P361P	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	429							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGGCGGACCCGGAGGTAAGAC	0.637													13	9					5.50884e-06	1.50675e-05	1	0	T	238449173	G	T	238449173	2	4	219	1	0	0	0	0	0	0	0	1	9702	1103	39	3		3	MLPH	2	238449173	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	9564457	238449173	4750200	76	38905											
ASB1	51665	broad.mit.edu	37	chr2	239344391	239344391	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctggtgctgtggctggctCccctgcacaccgttgcgaat	4	11	13	13	2	1	0	0	0	1	0	2	1	2	0	3	3	3	5	3	3	1	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:239344391C>T	ENST00000264607.4	+	3	478	c.231C>T	c.(229-231)ctC>ctT	p.L77L	ASB1_ENST00000409297.1_Intron|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	77					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GTGGCTGGCTCCCCTGCACAC	0.632													15	23					0	0	0	0	T	239344391	C	T	239344391	2	4	219	1	0	0	0	0	0	0	0	1	1017	842	30	2		2	ASB1	2	239344391	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	895218	239344391	3854982	77	38906											
HDAC4	9759	broad.mit.edu	37	chr2	240029767	240029767	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcatttgccccggaggccCgtctcctgcaggcgggacca	5	7	13	16	4	1	0	0	0	1	0	3	2	1	2	5	4	2	2	5	4	0	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:240029767C>T	ENST00000345617.3	-	15	2867	c.2076G>A	c.(2074-2076)acG>acA	p.T692T	HDAC4_ENST00000543185.1_Silent_p.T276T|HDAC4_ENST00000541256.1_Silent_p.T666T	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	692	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCCGGAGGCCCGTCTCCTGCA	0.677													11	20					0	0	0	0	T	240029767	C	T	240029767	2	4	219	1	0	0	0	0	0	0	0	1	7059	639	23	1		1	HDAC4	2	240029767	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	685376	240029767	3169606	78	38907											
CAPN10	11132	broad.mit.edu	37	chr2	241534551	241534551	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaccccaaattctggctgCgggtctcagaaccgagtgag	10	7	12	12	2	2	2	1	1	2	1	3	3	2	2	3	2	3	2	3	2	3	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:241534551C>A	ENST00000391984.2	+	7	1304	c.1108C>A	c.(1108-1110)Cgg>Agg	p.R370R	CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Silent_p.R370R|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000391982.2_Silent_p.R370R|CAPN10_ENST00000354082.4_Silent_p.R370R	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	370	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		ATTCTGGCTGCGGGTCTCAGA	0.672													40	48					4.01765e-15	1.33328e-14	1	0	A	241534551	C	A	241534551	2	1	219	1	0	0	0	0	0	0	0	1	2648	759	27	3		3	CAPN10	2	241534551	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1504784	241534551	1664822	79	38908											
KIF1A	547	broad.mit.edu	37	chr2	241702653	241702653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgctgggcgaaggcccagtCcacaggctcagctggcgtct	7	6	14	14	3	2	0	1	0	1	0	3	1	3	0	2	4	1	3	2	4	1	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:241702653C>A	ENST00000498729.2	-	21	2125	c.1879G>T	c.(1879-1881)Gac>Tac	p.D627Y	KIF1A_ENST00000320389.7_Missense_Mutation_p.D618Y	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	618					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AAGGCCCAGTCCACAGGCTCA	0.652													9	18					5.4927e-09	1.62476e-08	1	0	A	241702653	C	A	241702653	3	1	219	1	0	0	0	0	1	0	0	0	8334	855	30	2	3332	2	KIF1A	2	241702653	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	168102	241702653	1496720	80	38909											
ANO7	50636	broad.mit.edu	37	chr2	242135326	242135326	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgacccatgaccttgcCgcatgaggcctgagggcatg	8	8	13	12	1	1	4	1	4	0	0	1	4	1	4	4	2	1	2	4	2	0	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:242135326C>T	ENST00000402530.3	+	4	637	c.534C>T	c.(532-534)gcC>gcT	p.A178A	ANO7_ENST00000274979.8_Intron|ANO7_ENST00000402430.3_Intron	NM_001001666.3	NP_001001666.1	Q6IWH7	ANO7_HUMAN	anoctamin 7	0						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ATGACCTTGCCGCATGAGGCC	0.627													15	24					0	0	0	0	T	242135326	C	T	242135326	2	4	219	1	0	0	0	0	0	0	0	1	701	639	23	1		1	ANO7	2	242135326	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	432673	242135326	1064047	81	38910											
SLC6A11	6538	broad.mit.edu	37	chr3	10858101	10858101	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaggcggtccacgagcgcGgccactggaacaacaaggtg	12	3	14	12	4	0	0	0	0	0	0	1	2	1	1	2	5	3	0	2	5	4	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:10858101G>C	ENST00000254488.2	+	1	217	c.151G>C	c.(151-153)Ggc>Cgc	p.G51R	SLC6A11_ENST00000454147.1_Missense_Mutation_p.G51R	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	51					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CCACGAGCGCGGCCACTGGAA	0.721													3	4					0	0	0	0	C	10858101	G	C	10858101	3	2	219	1	0	0	0	0	1	0	0	0	14762	1116	39	3	153	3	SLC6A11	3	10858101	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08		10858101	187164329	82	38911											
SYN2	6854	broad.mit.edu	37	chr3	12225013	12225013	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggaaagcggggaggggaAaacagaccctcccactggtg	14	3	15	9	1	0	1	0	0	0	1	1	4	1	4	2	6	2	0	2	6	4	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:12225013A>G	ENST00000432424.2	+	0	1682							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GGGGAGGGGAAAACAGACCCT	0.448													7	2					0	0	0	0	G	12225013	A	G	12225013	1	3	219	0	1	0	0	0	0	0	0	0	15532	29	1	5		5	SYN2	3	12225013	RNA	SNP	A	TCGA-CR-7398-01A-11D-2012-08	1366912	12225013	185797417	83	38912											
XIRP1	165904	broad.mit.edu	37	chr3	39229740	39229740	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactcgctgtaggtgaccCacttggaccttgtctctgaa	7	12	9	13	1	1	2	0	2	1	0	4	3	2	3	3	2	0	2	3	2	2	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:39229740C>A	ENST00000340369.3	-	2	1425	c.1197G>T	c.(1195-1197)gtG>gtT	p.V399V	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.V399V	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	399							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTAGGTGACCCACTTGGACCT	0.592													60	53					1.27862e-28	4.74237e-28	1	0	A	39229740	C	A	39229740	2	1	219	1	0	0	0	0	0	0	0	1	17525	581	21	4		4	XIRP1	3	39229740	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	27004727	39229740	158792690	84	38913											
ITIH3	3699	broad.mit.edu	37	chr3	52829637	52829637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaacggagcctcccggaaGgggtaagaactttcaccagg	13	5	13	10	2	1	2	1	0	0	2	2	4	2	4	3	5	3	1	3	5	4	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:52829637G>T	ENST00000449956.2	+	2	118	c.112G>T	c.(112-114)Ggg>Tgg	p.G38W	ITIH3_ENST00000416872.2_Missense_Mutation_p.G38W	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	38	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCTCCCGGAAGGGGTAAGAAC	0.567													5	10					0.000157383	0.000415298	1	0	T	52829637	G	T	52829637	3	4	219	1	0	0	0	0	1	0	0	0	7958	1000	35	4	118	4	ITIH3	3	52829637	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	13599897	52829637	145192793	85	38914											
C3orf67	200844	broad.mit.edu	37	chr3	58817503	58817503	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggaggcactcaggccaTgggaggtcccagcatcctcc	7	6	13	15	0	1	0	1	0	0	0	4	2	4	2	5	5	1	2	5	5	0	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:58817503T>C	ENST00000295966.7	-	13	1834	c.1331A>G	c.(1330-1332)cAt>cGt	p.H444R	RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.H570R|RP11-147N17.1_ENST00000493123.1_RNA	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	452										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ACTCAGGCCATGGGAGGTCCC	0.542													27	13					0	0	0	0	C	58817503	T	C	58817503	3	2	219	1	0	0	0	0	1	0	0	0	2261	1464	51	5	376	5	C3orf67	3	58817503	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	5987866	58817503	139204927	86	38915											
IFT57	55081	broad.mit.edu	37	chr3	107938307	107938307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgttgcattagggtcatCatattcttgaggctgctcaa	9	16	9	7	0	4	1	3	1	1	0	4	1	4	1	0	2	2	4	0	2	4	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:107938307C>A	ENST00000264538.3	-	2	572	c.325G>T	c.(325-327)Gat>Tat	p.D109Y		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	109					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TTAGGGTCATCATATTCTTGA	0.408													19	11					6.94344e-10	2.12743e-09	1	0	A	107938307	C	A	107938307	3	1	219	1	0	0	0	0	1	0	0	0	7615	826	29	2	1004	2	IFT57	3	107938307	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	49120804	107938307	90084123	87	38916											
VEPH1	79674	broad.mit.edu	37	chr3	157146252	157146252	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttttcatacacagcaggTaacactctcaacaacatggt	13	11	6	11	0	2	0	2	0	1	0	3	0	2	0	0	2	6	3	0	2	4	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:157146252T>C	ENST00000362010.2	-	5	862	c.555A>G	c.(553-555)ttA>ttG	p.L185L	VEPH1_ENST00000543418.1_Silent_p.L185L|VEPH1_ENST00000392832.2_Silent_p.L185L|VEPH1_ENST00000392833.2_Silent_p.L185L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	185						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACACAGCAGGTAACACTCTCA	0.428													40	11					0	0	0	0	C	157146252	T	C	157146252	2	2	219	1	0	0	0	0	0	0	0	1	17250	1635	57	5		5	VEPH1	3	157146252	Silent	SNP	T	TCGA-CR-7398-01A-11D-2012-08	49207945	157146252	40876178	88	38917											
SI	6476	broad.mit.edu	37	chr3	164704993	164704993	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatcatctgcagcaacaatGagcttcatgtgtttttgtcg	9	16	8	8	1	3	1	2	1	1	0	4	1	3	1	0	0	4	4	0	0	3	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:164704993G>A	ENST00000264382.3	-	45	5192	c.5130C>T	c.(5128-5130)ctC>ctT	p.L1710L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1710	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAGCAACAATGAGCTTCATGT	0.348										HNSCC(35;0.089)			51	16					0	0	0	0	A	164704993	G	A	164704993	2	1	219	1	0	0	0	0	0	0	0	1	14385	1277	45	2		2	SI	3	164704993	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	7558741	164704993	33317437	89	38918											
SI	6476	broad.mit.edu	37	chr3	164741485	164741485	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgttatacccatggatGaatagcgagctgagttgact	11	11	11	8	1	0	3	0	3	0	0	0	5	0	4	1	1	4	4	1	1	4	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:164741485G>T	ENST00000264382.3	-	26	3034	c.2972C>A	c.(2971-2973)tCa>tAa	p.S991*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	991	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACCCATGGATGAATAGCGAGC	0.413										HNSCC(35;0.089)			17	26					3.45872e-05	9.29046e-05	1	0	T	164741485	G	T	164741485	4	4	219	1	0	0	0	0	0	1	0	0	14385	1294	45	2	2603	2	SI	3	164741485	Nonsense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	36492	164741485	33280945	90	38919											
SI	6476	broad.mit.edu	37	chr3	164766984	164766984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtttaccccagttctgcAcagcatccatgcaaattgtt	10	13	6	12	0	1	0	0	0	1	0	2	0	2	0	3	0	4	6	3	0	2	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:164766984A>G	ENST00000264382.3	-	15	1708	c.1646T>C	c.(1645-1647)gTg>gCg	p.V549A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	549	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCAGTTCTGCACAGCATCCAT	0.338										HNSCC(35;0.089)			14	27					0	0	0	0	G	164766984	A	G	164766984	3	3	219	1	0	0	0	0	1	0	0	0	14385	159	6	5	3973	5	SI	3	164766984	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	25499	164766984	33255446	91	38920											
TRA2B	6434	broad.mit.edu	37	chr3	185636179	185636179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtatgatcgagatctggaaCgtgatctgtatcctccacga	11	11	10	9	3	2	3	0	2	2	1	5	6	4	4	2	1	1	2	2	1	3	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:185636179C>A	ENST00000453386.2	-	8	1105	c.830G>T	c.(829-831)cGt>cTt	p.R277L	TRA2B_ENST00000382191.4_Missense_Mutation_p.R177L	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	277	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						AGATCTGGAACGTGATCTGTA	0.368													21	50					1.96292e-10	6.07644e-10	1	0	A	185636179	C	A	185636179	3	1	219	1	0	0	0	0	1	0	0	0	16529	536	19	3	44	3	TRA2B	3	185636179	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	20869195	185636179	12386251	92	38921											
KNG1	3827	broad.mit.edu	37	chr3	186450367	186450367	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaccaacagcccagagctGgaggagacactgactcacac	13	3	9	16	0	1	3	1	1	0	2	1	5	1	4	3	2	3	1	3	2	1	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:186450367G>T	ENST00000265023.4	+	7	1046	c.834G>T	c.(832-834)ctG>ctT	p.L278L	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Silent_p.L242L|KNG1_ENST00000287611.2_Silent_p.L278L	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	278	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GCCCAGAGCTGGAGGAGACAC	0.443													10	110					4.68919e-08	1.35692e-07	1	0	T	186450367	G	T	186450367	2	4	219	1	0	0	0	0	0	0	0	1	8479	1335	47	4		4	KNG1	3	186450367	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	814188	186450367	11572063	93	38922											
OSTN	344901	broad.mit.edu	37	chr3	190936696	190936696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggagtttctctggttttgGgtctccccttgacagactct	6	15	10	10	0	3	2	0	1	3	1	5	3	3	3	2	3	0	2	2	3	1	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:190936696G>A	ENST00000445281.1	+	3	330	c.263G>A	c.(262-264)gGg>gAg	p.G88E	OSTN_ENST00000339051.1_Missense_Mutation_p.G88E|OSTN-AS1_ENST00000430375.1_RNA			P61366	OSTN_HUMAN	osteocrin	88					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		TCTGGTTTTGGGTCTCCCCTT	0.398													23	26					0	0	0	0	A	190936696	G	A	190936696	3	1	219	1	0	0	0	0	1	0	0	0	11370	1232	43	4	269	4	OSTN	3	190936696	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	4486329	190936696	7085734	94	38923											
STK32B	55351	broad.mit.edu	37	chr4	5458560	5458560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgaaatccactcggtcacGcccatcgatgaaatcctcaa	13	8	6	14	4	2	1	2	1	0	0	6	3	4	1	3	1	1	0	3	1	4	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:5458560G>A	ENST00000282908.5	+	8	1115	c.693G>A	c.(691-693)acG>acA	p.T231T	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Silent_p.T154T|STK32B_ENST00000510398.1_Silent_p.T184T	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	231	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ACTCGGTCACGCCCATCGATG	0.532													10	6					0	0	0	0	A	5458560	G	A	5458560	2	1	219	1	0	0	0	0	0	0	0	1	15388	1074	38	1		1	STK32B	4	5458560	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08		5458560	185695716	95	38924											
GABRA2	2555	broad.mit.edu	37	chr4	46252554	46252554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcttttgaaagattcGgggcataattggcaacagcc	11	11	11	8	1	1	2	0	1	1	1	2	3	1	3	1	4	2	2	1	4	3	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:46252554G>C	ENST00000510861.1	-	10	1300	c.1127C>G	c.(1126-1128)cCg>cGg	p.P376R	GABRA2_ENST00000540012.1_Missense_Mutation_p.P381R|GABRA2_ENST00000356504.1_Missense_Mutation_p.P376R|GABRA2_ENST00000514090.1_Missense_Mutation_p.P376R|GABRA2_ENST00000507069.1_Missense_Mutation_p.P436R|GABRA2_ENST00000381620.4_Missense_Mutation_p.P376R			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	376					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAAAGATTCGGGGCATAATT	0.418													60	35					0	0	0	0	C	46252554	G	C	46252554	3	2	219	1	0	0	0	0	1	0	0	0	6209	1116	39	3	232	3	GABRA2	4	46252554	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	40793994	46252554	144901722	96	38925											
UGT2A1	10941	broad.mit.edu	37	chr4	70513215	70513215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcaactaggacagtcaCattatgctcctttttaatga	13	12	8	8	0	1	2	1	1	0	1	2	3	2	3	1	2	2	2	1	2	4	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:70513215C>T	ENST00000503640.1	-	1	203	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	UGT2A1_ENST00000512704.1_Missense_Mutation_p.V50M|UGT2A1_ENST00000286604.4_Missense_Mutation_p.V50M|UGT2A1_ENST00000514019.1_Missense_Mutation_p.V50M	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	50					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGGACAGTCACATTATGCTCC	0.393													17	24					0	0	0	0	T	70513215	C	T	70513215	3	4	219	1	0	0	0	0	1	0	0	0	17049	478	17	4	1459	4	UGT2A1	4	70513215	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	24260661	70513215	120641061	97	38926											
ODAM	54959	broad.mit.edu	37	chr4	71068636	71068636	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagctcccagaagagaaggTagagtcatgaaaacttcact	16	7	10	8	0	2	5	2	1	0	4	3	6	3	5	1	1	2	2	1	1	5	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:71068636T>C	ENST00000396094.2	+	9	858		c.e9+2			NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated						biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						GAAGAGAAGGTAGAGTCATGA	0.353													13	11					0	0	0	0	C	71068636	T	C	71068636	5	2	219	1	0	0	0	0	0	0	1	0	10895	1652	57	5	846	5	ODAM	4	71068636	Splice_Site	SNP	T	TCGA-CR-7398-01A-11D-2012-08	555421	71068636	120085640	98	38927											
SMR3A	26952	broad.mit.edu	37	chr4	71232484	71232484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccatcctccaccctatggtCcagggagatttccaccaccc	8	8	6	19	0	0	1	0	0	0	1	4	2	4	1	8	2	0	0	8	2	1	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:71232484C>A	ENST00000226460.4	+	3	274	c.178C>A	c.(178-180)Cca>Aca	p.P60T		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	60	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				ACCCTATGGTCCAGGGAGATT	0.557													17	90					2.35188e-11	7.3758e-11	1	0	A	71232484	C	A	71232484	3	1	219	1	0	0	0	0	1	0	0	0	14899	855	30	2	184	2	SMR3A	4	71232484	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	163848	71232484	119921792	99	38928											
SHROOM3	57619	broad.mit.edu	37	chr4	77660612	77660612	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagtctccattcatagAggagcagctgcatactgtgc	10	10	10	11	0	2	2	1	1	1	1	3	3	2	3	2	1	5	3	2	1	3	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:77660612A>G	ENST00000296043.6	+	5	2239	c.1286A>G	c.(1285-1287)gAg>gGg	p.E429G		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	429					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCATTCATAGAGGAGCAGCTG	0.577													21	47					0	0	0	0	G	77660612	A	G	77660612	3	3	219	1	0	0	0	0	1	0	0	0	14383	304	11	5	1304	5	SHROOM3	4	77660612	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	6428128	77660612	113493664	100	38929											
PDHA2	5161	broad.mit.edu	37	chr4	96762121	96762121	+	Frame_Shift_Del	DEL	G	G	-																															cagctaactactgtagatctGgaaaggggcccatactgatg																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:96762121delG	ENST00000295266.4	+	1	883	c.820delG	c.(820-822)gafs	p.G274fs		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	274					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTGTAGATCTGGAAAGGGGCC	0.458													39	17	---	---	---	---					-	96762121	G	-	96762121	7	5	219	1	0	1	0	1	0	0	0	0	11736	1349	47	0	822	0	PDHA2	4	96762121	Frame_Shift_Del	DEL	G	TCGA-CR-7398-01A-11D-2012-08	19101509	96762121	94392155	101	38930											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99337959	99337959	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctactagagattgttcagcAaaaagtggatagtgacaaag	16	10	10	5	0	2	2	1	1	1	1	2	4	2	3	0	1	2	2	0	1	6	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:99337959A>T	ENST00000408927.3	+	8	940	c.827A>T	c.(826-828)cAa>cTa	p.Q276L	RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.Q228L|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.Q185L|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.Q277L|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.Q277L|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.Q227L	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	276							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		ATTGTTCAGCAAAAAGTGGAT	0.363			T	NUP98	T-ALL								22	11					0	0	0	0	T	99337959	A	T	99337959	3	4	219	1	0	0	0	0	1	0	0	0	13121	130	5	5	860	5	RAP1GDS1	4	99337959	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	2575838	99337959	91816317	102	38931											
FBXW7	55294	broad.mit.edu	37	chr4	153247288	153247288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccatcatattgaacacagCggactgctgcaacatgaccc	12	8	8	13	1	1	2	1	2	0	0	1	3	1	3	2	1	6	2	2	1	3	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:153247288C>A	ENST00000281708.4	-	10	2743	c.1514G>T	c.(1513-1515)cGc>cTc	p.R505L	FBXW7_ENST00000603548.1_Missense_Mutation_p.R505L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329L|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387L|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505L(7)|p.R505H(5)|p.R266L(1)|p.R266H(1)|p.?(1)|p.R505P(1)|p.R425H(1)|p.R425L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTGAACACAGCGGACTGCTGC	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								37	26					4.11147e-13	1.32407e-12	1	0	A	153247288	C	A	153247288	3	1	219	1	0	0	0	0	1	0	0	0	5814	768	27	3	621	3	FBXW7	4	153247288	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	53909329	153247288	37906988	103	38932											
DCHS2	54798	broad.mit.edu	37	chr4	155161859	155161859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccactccagtgttctGatcaatagcaaacttggttc	11	11	6	13	0	2	1	1	1	1	0	4	1	3	1	3	1	2	3	3	1	3	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:155161859G>T	ENST00000357232.3	-	23	5823	c.5824C>A	c.(5824-5826)Cag>Aag	p.Q1942K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1942	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAGTGTTCTGATCAATAGCA	0.383													26	24					7.4402e-23	2.63709e-22	1	0	T	155161859	G	T	155161859	3	4	219	1	0	0	0	0	1	0	0	0	4320	1299	45	2	2938	2	DCHS2	4	155161859	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1914571	155161859	35992417	104	38933											
RAPGEF2	9693	broad.mit.edu	37	chr4	160273853	160273853	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctatactttggctccCagtggtactgtggataattt	8	14	11	8	0	0	0	0	0	0	0	1	1	1	1	1	4	2	4	1	4	4	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:160273853C>T	ENST00000264431.4	+	21	3818	c.3399C>T	c.(3397-3399)ccC>ccT	p.P1133P		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1133	Ser-rich.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTTTGGCTCCCAGTGGTACTG	0.378													22	12					0	0	0	0	T	160273853	C	T	160273853	2	4	219	1	0	0	0	0	0	0	0	1	13126	581	21	4		4	RAPGEF2	4	160273853	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	5111994	160273853	30880423	105	38934											
FSTL5	56884	broad.mit.edu	37	chr4	162841698	162841698	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacgtttgcaaaggtccatAcaggcacattctgcttgccc	9	11	9	12	1	1	1	0	1	1	0	2	1	2	1	2	2	4	4	2	2	2	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:162841698A>T	ENST00000306100.5	-	4	703	c.267T>A	c.(265-267)tgT>tgA	p.C89*	FSTL5_ENST00000379164.4_Nonsense_Mutation_p.C88*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.C88*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.C88*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	89	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAAGGTCCATACAGGCACATT	0.458													13	5					0	0	0	0	T	162841698	A	T	162841698	4	4	219	1	0	0	0	0	0	1	0	0	6128	389	14	5	2328	5	FSTL5	4	162841698	Nonsense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	2567845	162841698	28312578	106	38935											
FAT1	2195	broad.mit.edu	37	chr4	187557372	187557372	+	Frame_Shift_Del	DEL	A	A	-																															gatgacttttgagggcgaccAttgtcaactgccttaatcta																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:187557372delA	ENST00000441802.2	-	6	4199	c.3990delT	c.(3988-3990)aafs	p.N1330fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1330	Cadherin 11.		N -> S (in dbSNP:rs874111).		actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGGGCGACCATTGTCAACTG	0.428										HNSCC(5;0.00058)			24	12	---	---	---	---					-	187557372	A	-	187557372	7	5	219	1	0	1	0	1	0	0	0	0	5734	214	8	0	9864	0	FAT1	4	187557372	Frame_Shift_Del	DEL	A	TCGA-CR-7398-01A-11D-2012-08	24715674	187557372	3596904	107	38936											
CTNND2	1501	broad.mit.edu	37	chr5	11082811	11082811	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagggagaacataccgaTgagctccttatttctgacgt	12	11	9	9	2	2	3	1	2	1	1	3	5	3	3	2	1	3	1	2	1	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:11082811T>C	ENST00000304623.8	-	16	2974	c.2785A>G	c.(2785-2787)Atc>Gtc	p.I929V	CTNND2_ENST00000458100.2_Missense_Mutation_p.I496V|CTNND2_ENST00000511377.1_Missense_Mutation_p.I838V|CTNND2_ENST00000503622.1_Missense_Mutation_p.I592V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.I871V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	929					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AACATACCGATGAGCTCCTTA	0.507													137	104					0	0	0	0	C	11082811	T	C	11082811	3	2	219	1	0	0	0	0	1	0	0	0	4052	1464	51	5	920	5	CTNND2	5	11082811	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08		11082811	169832449	108	38937											
CDH9	1007	broad.mit.edu	37	chr5	26903843	26903843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgctatactccatttctGcattttcccccacgtcaggg	8	13	6	14	1	2	0	1	0	1	0	4	0	4	0	3	1	3	2	3	1	3	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:26903843G>A	ENST00000231021.4	-	6	1074	c.902C>T	c.(901-903)gCa>gTa	p.A301V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	301	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTCCATTTCTGCATTTTCCCC	0.413													84	176					0	0	0	0	A	26903843	G	A	26903843	3	1	219	1	0	0	0	0	1	0	0	0	3146	1319	46	4	1495	4	CDH9	5	26903843	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	15821032	26903843	154011417	109	38938											
RXFP3	51289	broad.mit.edu	37	chr5	33937868	33937868	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcctgtgttggctgccCaaccaggcgctcaccacctg	5	11	9	16	1	2	0	1	0	1	0	3	0	3	0	5	2	2	3	5	2	1	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:33937868C>A	ENST00000330120.3	+	1	1378	c.1023C>A	c.(1021-1023)ccC>ccA	p.P341P		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	341						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GTTGGCTGCCCAACCAGGCGC	0.602													36	70					6.90743e-12	2.1834e-11	1	0	A	33937868	C	A	33937868	2	1	219	1	0	0	0	0	0	0	0	1	13846	581	21	4		4	RXFP3	5	33937868	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	7034025	33937868	146977392	110	38939											
SPEF2	79925	broad.mit.edu	37	chr5	35654677	35654677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagatacagcaggccagaCaaccaccgatttgttaaata	15	10	7	9	1	0	2	0	0	0	2	0	3	0	2	3	1	3	2	3	1	6	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:35654677C>A	ENST00000440995.2	+	7	827	c.827C>A	c.(826-828)aCa>aAa	p.T276K	SPEF2_ENST00000282469.6_Missense_Mutation_p.T276K|SPEF2_ENST00000356031.3_Missense_Mutation_p.T276K|SPEF2_ENST00000509059.1_Missense_Mutation_p.T276K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	276					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCAGGCCAGACAACCACCGAT	0.358													21	42					5.35356e-11	1.66586e-10	1	0	A	35654677	C	A	35654677	3	1	219	1	0	0	0	0	1	0	0	0	15125	478	17	4	853	4	SPEF2	5	35654677	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1716809	35654677	145260583	111	38940											
SPEF2	79925	broad.mit.edu	37	chr5	35727888	35727888	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccacctaagccaggatCagaagaatgggtctatgtga	14	7	11	9	0	2	3	1	1	1	2	2	4	2	4	3	2	2	0	3	2	4	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:35727888C>A	ENST00000440995.2	+	21	3011	c.3011C>A	c.(3010-3012)tCa>tAa	p.S1004*	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.S1009*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1009					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGCCAGGATCAGAAGAATGG	0.428													93	62					3.37413e-40	1.3124e-39	1	0	A	35727888	C	A	35727888	4	1	219	1	0	0	0	0	0	1	0	0	15125	838	29	2	3129	2	SPEF2	5	35727888	Nonsense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	73211	35727888	145187372	112	38941											
FBXO4	26272	broad.mit.edu	37	chr5	41939628	41939628	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagaccattgttggttttAtcttgtatttctcaagggga	9	16	11	5	0	2	1	1	0	2	1	3	3	2	3	1	4	0	3	1	4	4	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:41939628A>G	ENST00000281623.3	+	6	1040	c.984A>G	c.(982-984)ttA>ttG	p.L328L	FBXO4_ENST00000509134.1_Intron	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	328					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TGTTGGTTTTATCTTGTATTT	0.393													57	145					0	0	0	0	G	41939628	A	G	41939628	2	3	219	1	0	0	0	0	0	0	0	1	5793	446	16	5		5	FBXO4	5	41939628	Silent	SNP	A	TCGA-CR-7398-01A-11D-2012-08	6211740	41939628	138975632	113	38942											
PDE4D	5144	broad.mit.edu	37	chr5	58287799	58287799	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctccttttccttctgagTtggagaaggaatttccactt	7	18	7	9	0	2	2	0	1	2	1	5	4	4	3	3	2	0	1	3	2	2	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:58287799T>A	ENST00000340635.6	-	8	1223	c.1048A>T	c.(1048-1050)Act>Tct	p.T350S	PDE4D_ENST00000546160.1_Missense_Mutation_p.T289S|PDE4D_ENST00000317118.8_Missense_Mutation_p.T59S|PDE4D_ENST00000360047.5_Missense_Mutation_p.T214S|PDE4D_ENST00000502484.2_Missense_Mutation_p.T289S|PDE4D_ENST00000405755.2_Missense_Mutation_p.T228S|PDE4D_ENST00000503258.1_Missense_Mutation_p.T220S|PDE4D_ENST00000358923.6_Missense_Mutation_p.T48S|PDE4D_ENST00000507116.1_Missense_Mutation_p.T286S	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	350					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TCCTTCTGAGTTGGAGAAGGA	0.318													7	1					0	0	0	0	A	58287799	T	A	58287799	3	1	219	1	0	0	0	0	1	0	0	0	11713	1725	60	5	1413	5	PDE4D	5	58287799	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	16348171	58287799	122627461	114	38943											
SERINC5	256987	broad.mit.edu	37	chr5	79498804	79498804	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacatgaagcgggtgctgagGgactgccgaatcctggggca	9	7	16	9	2	0	2	0	2	0	0	1	4	1	3	2	4	4	2	2	4	3	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:79498804G>C	ENST00000507668.2	-	2	246	c.96C>G	c.(94-96)tcC>tcG	p.S32S	SERINC5_ENST00000512972.2_Silent_p.S32S|SERINC5_ENST00000512721.1_Silent_p.S32S|SERINC5_ENST00000509193.1_Silent_p.S32S|SERINC5_ENST00000513907.1_5'UTR	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	32					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGGTGCTGAGGGACTGCCGAA	0.552													7	5					0	0	0	0	C	79498804	G	C	79498804	2	2	219	1	0	0	0	0	0	0	0	1	14170	1219	43	4		4	SERINC5	5	79498804	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	21211005	79498804	101416456	115	38944											
GPR98	84059	broad.mit.edu	37	chr5	89933676	89933676	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggctctgttttgtttttAtctgggcaaagtgacacaac	10	15	9	7	0	2	1	0	1	2	0	2	1	2	1	0	2	1	4	0	2	4	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:89933676A>T	ENST00000405460.2	+	11	2247	c.2151A>T	c.(2149-2151)ttA>ttT	p.L717F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	717	Calx-beta 5.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTTGTTTTTATCTGGGCAAA	0.418													23	14					0	0	0	0	T	89933676	A	T	89933676	3	4	219	1	0	0	0	0	1	0	0	0	6771	446	16	5	2193	5	GPR98	5	89933676	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	10434872	89933676	90981584	116	38945											
APC	324	broad.mit.edu	37	chr5	112175215	112175215	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcaaatagcagaaataaaAgaaaagattggaactaggtc	20	7	9	5	0	0	3	0	0	0	3	1	4	0	4	0	2	3	2	0	2	9	4	rs121913224		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:112175215A>G	ENST00000457016.1	+	16	4304	c.3924A>G	c.(3922-3924)aaA>aaG	p.K1308K	APC_ENST00000257430.4_Silent_p.K1308K|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.K1308K			P25054	APC_HUMAN	adenomatous polyposis coli	1308	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E1309fs*6(50)|p.E1309fs*4(37)|p.I1307fs*6(12)|p.?(1)|p.E1309fs*5(1)|p.K1192fs*3(1)|p.K1308fs*4(1)|p.I1307fs*13(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGAAATAAAAGAAAAGATTG	0.428		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			30	6					0	0	0	0	G	112175215	A	G	112175215	2	3	219	1	0	0	0	0	0	0	0	1	764	69	3	5		5	APC	5	112175215	Silent	SNP	A	TCGA-CR-7398-01A-11D-2012-08	22241539	112175215	68740045	117	38946											
ADAMTS19	171019	broad.mit.edu	37	chr5	129037215	129037215	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagggactgcattgggcccaAgcccgcctctgcccagcgct	6	6	13	16	2	1	0	0	0	1	0	1	2	1	1	4	2	4	2	4	2	1	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:129037215A>T	ENST00000274487.4	+	20	3216	c.3071A>T	c.(3070-3072)aAg>aTg	p.K1024M	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1024	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATTGGGCCCAAGCCCGCCTCT	0.577													18	17					0	0	0	0	T	129037215	A	T	129037215	3	4	219	1	0	0	0	0	1	0	0	0	264	72	3	5	3149	5	ADAMTS19	5	129037215	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	16862000	129037215	51878045	118	38947											
PCDHA2	56146	broad.mit.edu	37	chr5	140176493	140176493	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccctcgacaccgcctactCgtgctggtgaaggaccacgg	7	7	11	16	4	0	1	0	1	0	0	3	3	1	2	5	3	2	1	5	3	2	1	rs140366950		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:140176493C>T	ENST00000526136.1	+	1	1944	c.1944C>T	c.(1942-1944)ctC>ctT	p.L648L	PCDHA2_ENST00000520672.2_Silent_p.L648L|PCDHA2_ENST00000378132.1_Silent_p.L648L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCCTACTCGTGCTGGTGA	0.652													48	16					0	0	0	0	T	140176493	C	T	140176493	2	4	219	1	0	0	0	0	0	0	0	1	11595	871	31	1		1	PCDHA2	5	140176493	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	11139278	140176493	40738767	119	38948											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788253	140788253	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accctgccacggatcctgatAtaaacataaactcaattaaa	17	9	4	11	1	1	1	1	1	0	0	2	2	2	2	3	1	3	0	3	1	8	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:140788253A>T	ENST00000520790.1	+	1	484	c.484A>T	c.(484-486)Ata>Tta	p.I162L	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCCTGATATAAACATAAA	0.363													12	5					0	0	0	0	T	140788253	A	T	140788253	3	4	219	1	0	0	0	0	1	0	0	0	11638	449	16	5	486	5	PCDHGB6	5	140788253	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	611760	140788253	40127007	120	38949											
DOCK2	1794	broad.mit.edu	37	chr5	169461490	169461490	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcctcctggagaagctGctggattaccggggtgtgat	9	9	15	8	1	0	2	0	1	0	1	1	4	1	3	3	5	3	2	3	5	3	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:169461490G>A	ENST00000256935.8	+	35	3635	c.3555G>A	c.(3553-3555)ctG>ctA	p.L1185L	DOCK2_ENST00000520908.1_Silent_p.L677L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.L246L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1185	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGAAGCTGCTGGATTACC	0.587													23	13					0	0	0	0	A	169461490	G	A	169461490	2	1	219	1	0	0	0	0	0	0	0	1	4723	1306	46	4		4	DOCK2	5	169461490	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	28673237	169461490	11453770	121	38950											
NSD1	64324	broad.mit.edu	37	chr5	176675268	176675269	+	Frame_Shift_Ins	INS	-	-	A																															atcccgggatgcctgcctctINSaaaaaaatgcagggtgaacg																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:176675268_176675269insA	ENST00000439151.2	+	11	4629_4630	c.4584_4585insA	c.(4582-4587)tcaaaafs	p.SK1528fs	NSD1_ENST00000347982.4_Frame_Shift_Ins_p.SK1259fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.SK1259fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.SK1425fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1528					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGCCTGCCTCTAAAAAAATGCA	0.495			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			10	10	---	---	---	---					A	176675269	-	A	176675268	7	5	219	1	0	1	1	0	0	0	0	0	10740	1509	53	0	4622	0	NSD1	5	176675268	Frame_Shift_Ins	INS	-	TCGA-CR-7398-01A-11D-2012-08	7213778	176675268	4239992	122	38951											
DSP	1832	broad.mit.edu	37	chr6	7568065	7568066	+	Frame_Shift_Ins	INS	-	-	C																															cctgaaggggctccaggactINSccatcaggaagaagtacccc																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:7568065_7568066insC	ENST00000379802.3	+	10	1533_1534	c.1192_1193insC	c.(1192-1194)catfs	p.H398fs	DSP_ENST00000418664.2_Frame_Shift_Ins_p.H398fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	398	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCTCCAGGACTCCATCAGGAAG	0.515													16	51	---	---	---	---					C	7568066	-	C	7568065	7	5	219	1	0	1	1	0	0	0	0	0	4817	1551	54	0	1230	0	DSP	6	7568065	Frame_Shift_Ins	INS	-	TCGA-CR-7398-01A-11D-2012-08		7568065	163547002	123	38952											
OR14J1	442191	broad.mit.edu	37	chr6	29274874	29274874	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgagactattatggatccCcgtgcctgtaggcatgcagt	9	12	11	9	1	0	1	0	1	0	1	1	3	1	2	3	2	2	3	3	2	4	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:29274874C>G	ENST00000377160.2	+	1	472	c.408C>G	c.(406-408)ccC>ccG	p.P136P		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTATGGATCCCCGTGCCTGTA	0.502													58	136					0	0	0	0	G	29274874	C	G	29274874	2	3	219	1	0	0	0	0	0	0	0	1	11019	610	22	4		4	OR14J1	6	29274874	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	21706809	29274874	141840193	124	38953											
OR10C1	442194	broad.mit.edu	37	chr6	29408338	29408338	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctgtgagatccagccTgtcctgcagctggtatgtgg	5	14	12	10	0	2	1	0	1	2	1	4	2	4	1	3	2	3	3	3	2	1	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:29408338T>A	ENST00000444197.2	+	1	1256	c.546T>A	c.(544-546)ccT>ccA	p.P182P	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGATCCAGCCTGTCCTGCAGC	0.582													62	168					0	0	0	0	A	29408338	T	A	29408338	2	1	219	1	0	0	0	0	0	0	0	1	10969	1567	55	5		5	OR10C1	6	29408338	Silent	SNP	T	TCGA-CR-7398-01A-11D-2012-08	133464	29408338	141706729	125	38954											
TRIM39	56658	broad.mit.edu	37	chr6	30297214	30297214	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtatctgaaggaacctgtCatcattgagtgtgggcacaa	12	10	12	7	0	3	2	2	2	1	0	3	4	3	3	1	2	1	2	1	2	4	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:30297214C>T	ENST00000376659.5	+	3	718	c.120C>T	c.(118-120)gtC>gtT	p.V40V	TRIM39_ENST00000396547.1_Silent_p.V40V|TRIM39_ENST00000540416.1_Silent_p.V40V|TRIM39_ENST00000396551.3_Silent_p.V40V|TRIM39_ENST00000396548.1_Silent_p.V40V|TRIM39_ENST00000376656.4_Silent_p.V40V	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						AGGAACCTGTCATCATTGAGT	0.562													141	114					0	0	0	0	T	30297214	C	T	30297214	2	4	219	1	0	0	0	0	0	0	0	1	16608	813	29	2		2	TRIM39	6	30297214	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	888876	30297214	140817853	126	38955											
DHX16	8449	broad.mit.edu	37	chr6	30627269	30627269	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgtgccccaggtggtgTgggctggaagatacgggcct	5	10	16	10	2	0	1	0	0	0	1	1	2	0	2	3	5	2	1	3	5	2	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:30627269T>A	ENST00000376442.3	-	12	2182	c.1987A>T	c.(1987-1989)Aca>Tca	p.T663S	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Missense_Mutation_p.T182S	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	663	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						CCAGGTGGTGTGGGCTGGAAG	0.582													9	7					0	0	0	0	A	30627269	T	A	30627269	3	1	219	1	0	0	0	0	1	0	0	0	4539	1696	59	5	1174	5	DHX16	6	30627269	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	330055	30627269	140487798	127	38956											
MICB	4277	broad.mit.edu	37	chr6	31477636	31477636	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcagcacagctgggatttCagcctctgatgtcagctact	9	11	10	11	0	3	1	2	1	1	0	3	2	3	2	1	1	6	4	1	1	1	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:31477636C>G	ENST00000252229.6	+	6	1181	c.1102C>G	c.(1102-1104)Cag>Gag	p.Q368E	MICB_ENST00000399150.3_Missense_Mutation_p.Q325E|MICB_ENST00000538442.1_Missense_Mutation_p.Q336E	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	368					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GCTGGGATTTCAGCCTCTGAT	0.577													68	55					0	0	0	0	G	31477636	C	G	31477636	3	3	219	1	0	0	0	0	1	0	0	0	9644	827	29	2	1124	2	MICB	6	31477636	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	850367	31477636	139637431	128	38957											
DNAH8	1769	broad.mit.edu	37	chr6	38851748	38851748	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttattgatgatattaatatgCctgtgattaatgagtgggga	12	16	11	2	0	0	4	0	4	0	0	0	5	0	5	1	2	1	0	1	2	5	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:38851748C>A	ENST00000359357.3	+	54	7836	c.7582C>A	c.(7582-7584)Cct>Act	p.P2528T	DNAH8_ENST00000441566.1_Missense_Mutation_p.P2492T|DNAH8_ENST00000449981.2_Missense_Mutation_p.P2745T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATTAATATGCCTGTGATTAA	0.333													12	20					0.00010058	0.000267172	1	0	A	38851748	C	A	38851748	3	1	219	1	0	0	0	0	1	0	0	0	4643	739	26	4	7788	4	DNAH8	6	38851748	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	7374112	38851748	132263319	129	38958											
DNAH8	1769	broad.mit.edu	37	chr6	38919096	38919096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtattcatttttaggtCttggtgcccagaccgtactg	7	16	9	9	1	2	1	1	0	1	1	2	1	2	1	2	2	2	2	2	2	3	8			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:38919096C>A	ENST00000359357.3	+	80	11854	c.11600C>A	c.(11599-11601)tCt>tAt	p.S3867Y	DNAH8_ENST00000441566.1_Missense_Mutation_p.S3831Y|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.S4084Y					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTTTTAGGTCTTGGTGCCCA	0.338													39	61					9.62906e-15	3.16044e-14	1	0	A	38919096	C	A	38919096	3	1	219	1	0	0	0	0	1	0	0	0	4643	913	32	2	11910	2	DNAH8	6	38919096	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	67348	38919096	132195971	130	38959											
HSP90AB1	3326	broad.mit.edu	37	chr6	44219990	44219990	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatgaaagaaatcttagatAagaaggttgagaaggtaagc	18	9	11	3	0	2	5	1	2	1	4	2	6	2	5	0	2	1	2	0	2	7	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:44219990A>T	ENST00000371554.1	+	10	1931	c.1717A>T	c.(1717-1719)Aag>Tag	p.K573*	HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.K573*|HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.K573*			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	573					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATCTTAGATAAGAAGGTTGA	0.443													19	31					0	0	0	0	T	44219990	A	T	44219990	4	4	219	1	0	0	0	0	0	1	0	0	7454	363	13	5	1751	5	HSP90AB1	6	44219990	Nonsense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	5300894	44219990	126895077	131	38960											
ENPP4	22875	broad.mit.edu	37	chr6	46108938	46108938	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaaggctggacaattgtgCtaaatgaatcatcacaaaaa	18	9	8	6	0	2	2	2	2	0	0	2	3	2	3	0	2	1	2	0	2	7	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:46108938C>T	ENST00000321037.4	+	3	1206	c.976C>T	c.(976-978)Cta>Tta	p.L326L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	326						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GACAATTGTGCTAAATGAATC	0.338													19	19					0	0	0	0	T	46108938	C	T	46108938	2	4	219	1	0	0	0	0	0	0	0	1	5170	796	28	4		4	ENPP4	6	46108938	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1888948	46108938	125006129	132	38961											
PKHD1	5314	broad.mit.edu	37	chr6	51484071	51484071	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgattttggcctgcCagctggtatctgagcaactg	8	11	12	10	0	1	2	0	2	1	0	1	2	1	2	2	2	6	5	2	2	2	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:51484071C>T	ENST00000371117.3	-	67	12308	c.12033G>A	c.(12031-12033)ctG>ctA	p.L4011L	RP3-335N17.2_ENST00000589278.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4011					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTGGCCTGCCAGCTGGTATC	0.567													30	43					0	0	0	0	T	51484071	C	T	51484071	2	4	219	1	0	0	0	0	0	0	0	1	12043	581	21	4		4	PKHD1	6	51484071	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	5375133	51484071	119630996	133	38962											
HCRTR2	3062	broad.mit.edu	37	chr6	55120039	55120039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcacagcaaagcgggccCgtaacagcattgtcatcatc	13	6	10	12	2	2	1	2	0	0	1	3	1	2	1	1	1	5	4	1	1	2	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:55120039C>T	ENST00000370862.3	+	3	844	c.508C>T	c.(508-510)Cgt>Tgt	p.R170C		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	170					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAGCGGGCCCGTAACAGCAT	0.502													32	48					0	0	0	0	T	55120039	C	T	55120039	3	4	219	1	0	0	0	0	1	0	0	0	7052	652	23	1	518	1	HCRTR2	6	55120039	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	3635968	55120039	115995028	134	38963											
EYS	346007	broad.mit.edu	37	chr6	66204788	66204788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagattcctggcagaaCtgctgtttcactgtcacatt	9	13	8	11	0	3	2	3	0	0	2	4	3	4	2	1	1	2	3	1	1	1	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:66204788C>A	ENST00000503581.1	-	4	1053	c.516G>T	c.(514-516)caG>caT	p.Q172H	EYS_ENST00000370616.2_Missense_Mutation_p.Q172H|EYS_ENST00000393380.2_Missense_Mutation_p.Q172H|EYS_ENST00000370618.3_Missense_Mutation_p.Q172H|EYS_ENST00000342421.5_Missense_Mutation_p.Q172H|EYS_ENST00000370621.3_Missense_Mutation_p.Q172H	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	172	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CCTGGCAGAACTGCTGTTTCA	0.453													13	30					2.68362e-12	8.55047e-12	1	0	A	66204788	C	A	66204788	3	1	219	1	0	0	0	0	1	0	0	0	5370	564	20	4	9040	4	EYS	6	66204788	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	11084749	66204788	104910279	135	38964											
BAI3	577	broad.mit.edu	37	chr6	70092801	70092802	+	Frame_Shift_Ins	INS	-	-	G																															tcaaactttggacagatttcINSgggatataccaaatacaagc																								rs148278852		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:70092801_70092802insG	ENST00000370598.1	+	31	5175_5176	c.4354_4355insG	c.(4354-4356)ggafs	p.G1452fs	BAI3_ENST00000238918.8_Frame_Shift_Ins_p.G658fs|BAI3_ENST00000546190.1_Frame_Shift_Ins_p.G416fs	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1452					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R1452W(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGACAGATTTCGGGATATACCA	0.386													10	20	---	---	---	---					G	70092802	-	G	70092801	7	5	219	1	0	1	1	0	0	0	0	0	1304	875	31	0	4468	0	BAI3	6	70092801	Frame_Shift_Ins	INS	-	TCGA-CR-7398-01A-11D-2012-08	3888013	70092801	101022266	136	38965											
C6orf165	154313	broad.mit.edu	37	chr6	88127994	88127994	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaccagcttgagactgccCggagccaggtataccgctac	10	8	10	13	2	0	1	0	1	0	1	0	3	0	2	4	2	6	3	4	2	4	5	rs140079201		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:88127994C>A	ENST00000507897.1	+	7	783	c.700C>A	c.(700-702)Cgg>Agg	p.R234R	C6ORF165_ENST00000369562.4_Silent_p.R234R			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	234										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGAGACTGCCCGGAGCCAGGT	0.488													22	37					7.45023e-12	2.34878e-11	1	0	A	88127994	C	A	88127994	2	1	219	1	0	0	0	0	0	0	0	1	2362	643	23	3		3	C6orf165	6	88127994	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	18035193	88127994	82987073	137	38966											
FUT9	10690	broad.mit.edu	37	chr6	96651430	96651430	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccttccagaaatggatttgGatgaatttggaatcaccaac	13	11	8	9	0	1	2	1	1	0	1	2	5	2	5	3	3	1	0	3	3	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:96651430G>C	ENST00000302103.5	+	3	725	c.399G>C	c.(397-399)tgG>tgC	p.W133C		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	133					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATGGATTTGGATGAATTTGG	0.458													15	25					0	0	0	0	C	96651430	G	C	96651430	3	2	219	1	0	0	0	0	1	0	0	0	6159	1183	41	2	401	2	FUT9	6	96651430	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	8523436	96651430	74463637	138	38967											
FUT9	10690	broad.mit.edu	37	chr6	96651555	96651555	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttcttgacggtaagcaCaaatcccttcgtgtttgaag	9	13	10	9	2	1	2	0	2	1	0	3	2	2	2	1	2	1	4	1	2	3	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:96651555C>G	ENST00000302103.5	+	3	850	c.524C>G	c.(523-525)aCa>aGa	p.T175R		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	175					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACGGTAAGCACAAATCCCTTC	0.463													18	38					0	0	0	0	G	96651555	C	G	96651555	3	3	219	1	0	0	0	0	1	0	0	0	6159	478	17	4	526	4	FUT9	6	96651555	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	125	96651555	74463512	139	38968											
PTPRK	5796	broad.mit.edu	37	chr6	128385930	128385930	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaatgcgtacgcactgggTtttagtttcctgatagagta	10	13	11	7	2	0	2	0	1	0	1	1	2	1	2	1	1	3	6	1	1	5	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:128385930T>A	ENST00000368227.3	-	13	2533	c.2167A>T	c.(2167-2169)Acc>Tcc	p.T723S	PTPRK_ENST00000368215.3_Missense_Mutation_p.T723S|PTPRK_ENST00000368207.3_Missense_Mutation_p.T723S|PTPRK_ENST00000368210.3_Missense_Mutation_p.T723S|PTPRK_ENST00000368226.4_Missense_Mutation_p.T723S|PTPRK_ENST00000532331.1_Missense_Mutation_p.T723S|PTPRK_ENST00000524481.1_5'UTR|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368213.5_Missense_Mutation_p.T723S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	723					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACGCACTGGGTTTTAGTTTCC	0.343													17	37					0	0	0	0	A	128385930	T	A	128385930	3	1	219	1	0	0	0	0	1	0	0	0	12887	1725	60	5	2249	5	PTPRK	6	128385930	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	31734375	128385930	42729137	140	38969											
LAMA2	3908	broad.mit.edu	37	chr6	129419489	129419489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccgcactgggccaccgTcatatgccaaagatgatgag	11	7	10	13	2	1	3	1	2	0	1	2	3	2	3	5	1	1	1	5	1	2	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:129419489T>C	ENST00000421865.2	+	4	617	c.568T>C	c.(568-570)Tca>Cca	p.S190P		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	190	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGGCCACCGTCATATGCCAA	0.443													31	40					0	0	0	0	C	129419489	T	C	129419489	3	2	219	1	0	0	0	0	1	0	0	0	8659	1667	58	5	582	5	LAMA2	6	129419489	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	1033559	129419489	41695578	141	38970											
ENPP1	5167	broad.mit.edu	37	chr6	132203596	132203596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataacaccaaagtgagttacGggttcctctccccaccacgt	11	9	7	14	2	1	1	0	1	1	0	3	1	2	1	5	1	2	2	5	1	3	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:132203596G>C	ENST00000360971.2	+	21	2232	c.2212G>C	c.(2212-2214)Ggg>Cgg	p.G738R		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	738	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AGTGAGTTACGGGTTCCTCTC	0.383													35	56					0	0	0	0	C	132203596	G	C	132203596	3	2	219	1	0	0	0	0	1	0	0	0	5167	1116	39	3	2294	3	ENPP1	6	132203596	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	2784107	132203596	38911471	142	38971											
BCLAF1	9774	broad.mit.edu	37	chr6	136597402	136597402	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgcagtagcaaaactttTaccctgatctgcgaggactg	12	10	10	9	1	1	2	0	1	1	1	1	4	1	3	1	1	5	3	1	1	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:136597402T>A	ENST00000531224.1	-	5	1513	c.1261A>T	c.(1261-1263)Aaa>Taa	p.K421*	BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.K419*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.K419*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.K419*|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.K421*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	421					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCAAAACTTTTACCCTGATCT	0.423													97	225					0	0	0	0	A	136597402	T	A	136597402	4	1	219	1	0	0	0	0	0	1	0	0	1387	1763	61	5	1537	5	BCLAF1	6	136597402	Nonsense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	4393806	136597402	34517665	143	38972											
VTA1	51534	broad.mit.edu	37	chr6	142487415	142487415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatcgatagtaaaactcctGaatgtcgcaaatttttatca	15	13	6	7	2	1	2	1	1	0	1	4	3	2	2	1	0	1	2	1	0	6	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:142487415G>A	ENST00000367630.4	+	2	221	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	55	Interaction with CHMP5.|Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TAAAACTCCTGAATGTCGCAA	0.299													21	32					0	0	0	0	A	142487415	G	A	142487415	3	1	219	1	0	0	0	0	1	0	0	0	17329	1291	45	2	169	2	VTA1	6	142487415	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	5890013	142487415	28627652	144	38973											
STX11	8676	broad.mit.edu	37	chr6	144507960	144507960	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggccgacgtgaagcggctgGgaaagcagaacgcccgcttc	9	5	15	12	5	0	2	0	1	0	1	1	4	0	3	2	3	3	3	2	3	3	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:144507960G>T	ENST00000367568.4	+	2	379	c.196G>T	c.(196-198)Gga>Tga	p.G66*		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	66					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GAAGCGGCTGGGAAAGCAGAA	0.622									Familial Hemophagocytic Lymphohistiocytosis				12	18					4.84862e-15	1.6046e-14	1	0	T	144507960	G	T	144507960	4	4	219	1	0	0	0	0	0	1	0	0	15427	1233	43	4	198	4	STX11	6	144507960	Nonsense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	2020545	144507960	26607107	145	38974											
GRM1	2911	broad.mit.edu	37	chr6	146720539	146720539	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgaggccaaatatatcgcGttcaccatgtacaccacctg	13	8	7	13	3	1	0	1	0	0	0	2	1	1	0	4	1	2	2	4	1	5	4	rs114187147	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:146720539G>C	ENST00000392299.2	+	8	2834	c.2364G>C	c.(2362-2364)gcG>gcC	p.A788A	GRM1_ENST00000361719.2_Silent_p.A788A|GRM1_ENST00000282753.1_Silent_p.A788A|GRM1_ENST00000492807.2_Silent_p.A788A|GRM1_ENST00000355289.4_Silent_p.A788A|GRM1_ENST00000507907.1_Silent_p.A788A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	788					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AATATATCGCGTTCACCATGT	0.488													48	73					0	0	0	0	C	146720539	G	C	146720539	2	2	219	1	0	0	0	0	0	0	0	1	6846	1132	40	3		3	GRM1	6	146720539	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	2212579	146720539	24394528	146	38975											
GRM1	2911	broad.mit.edu	37	chr6	146755774	146755774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aactgaccccggatgattcgCctgcgctgacgcctccgtcg	6	8	11	16	6	0	3	0	3	0	0	3	4	1	4	5	1	2	1	5	1	1	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:146755774C>T	ENST00000361719.2	+	9	3897	c.3427C>T	c.(3427-3429)Cct>Tct	p.P1143S	GRM1_ENST00000282753.1_Missense_Mutation_p.P1143S|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1143	Ser-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGATGATTCGCCTGCGCTGAC	0.662													41	45					0	0	0	0	T	146755774	C	T	146755774	3	4	219	1	0	0	0	0	1	0	0	0	6846	739	26	4	3522	4	GRM1	6	146755774	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	35235	146755774	24359293	147	38976											
FNDC1	84624	broad.mit.edu	37	chr6	159677661	159677661	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacctaaagcccaacacGaggtacgatgtgtcagtcat	14	7	10	10	2	2	1	2	0	0	1	2	4	2	1	2	1	4	1	2	1	5	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:159677661G>T	ENST00000297267.9	+	18	5372	c.5172G>T	c.(5170-5172)acG>acT	p.T1724T	FNDC1_ENST00000340366.6_Silent_p.T1661T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1724	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCCCAACACGAGGTACGATG	0.423													53	72					1.38658e-30	5.22364e-30	1	0	T	159677661	G	T	159677661	2	4	219	1	0	0	0	0	0	0	0	1	6013	1045	37	3		3	FNDC1	6	159677661	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	12921887	159677661	11437406	148	38977											
MAS1	4142	broad.mit.edu	37	chr6	160328115	160328115	+	Frame_Shift_Del	DEL	C	C	-																															ctgggtcattatgagcatctCcccagtggggtttgttgaga																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:160328115delC	ENST00000252660.4	+	1	142	c.128delC	c.(127-129)tcfs	p.S43fs		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	43					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		ATGAGCATCTCCCCAGTGGGG	0.522													44	71	---	---	---	---					-	160328115	C	-	160328115	7	5	219	1	0	1	0	1	0	0	0	0	9389	855	30	0	130	0	MAS1	6	160328115	Frame_Shift_Del	DEL	C	TCGA-CR-7398-01A-11D-2012-08	650454	160328115	10786952	149	38978											
CRHR2	1395	broad.mit.edu	37	chr7	30701809	30701809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttgccgatggcccaggCgacgatgatggggaagggga	9	5	19	8	3	0	1	0	1	0	0	0	7	0	3	2	6	2	1	2	6	1	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:30701809C>A	ENST00000471646.1	-	7	1138	c.721G>T	c.(721-723)Gcc>Tcc	p.A241S	CRHR2_ENST00000506074.2_Missense_Mutation_p.A241S|CRHR2_ENST00000341843.4_Missense_Mutation_p.A227S|CRHR2_ENST00000348438.4_Missense_Mutation_p.A268S	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	241					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGGCCCAGGCGACGATGATG	0.562													35	52					5.71845e-15	1.88725e-14	1	0	A	30701809	C	A	30701809	3	1	219	1	0	0	0	0	1	0	0	0	3902	768	27	3	538	3	CRHR2	7	30701809	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08		30701809	128436854	150	38979											
POM121L12	285877	broad.mit.edu	37	chr7	53103797	53103797	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgggatcgcgccccctGagcgtcaggagagcccctgg	6	5	14	16	4	1	2	1	1	0	1	3	4	1	3	5	3	2	0	5	3	0	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:53103797G>T	ENST00000408890.4	+	1	449	c.433G>T	c.(433-435)Gag>Tag	p.E145*		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	145										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCGCCCCCTGAGCGTCAGGA	0.711													11	24					1.5842e-08	4.65165e-08	1	0	T	53103797	G	T	53103797	4	4	219	1	0	0	0	0	0	1	0	0	12313	1291	45	2	435	2	POM121L12	7	53103797	Nonsense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	22401988	53103797	106034866	151	38980											
ZNF107	51427	broad.mit.edu	37	chr7	64168848	64168848	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagaaaccctacaaatgTgaagaatgtggcaaatcctt	16	9	8	8	0	1	3	1	1	0	2	2	4	2	3	2	1	2	1	2	1	6	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:64168848T>G	ENST00000395391.1	+	4	3541	c.2166T>G	c.(2164-2166)tgT>tgG	p.C722W	ZNF107_ENST00000344930.3_Missense_Mutation_p.C722W|ZNF107_ENST00000423627.1_Missense_Mutation_p.C722W			Q9UII5	ZN107_HUMAN	zinc finger protein 107	722					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CCTACAAATGTGAAGAATGTG	0.348													10	11					0	0	0	0	G	64168848	T	G	64168848	3	3	219	1	0	0	0	0	1	0	0	0	17810	1702	59	5	2172	5	ZNF107	7	64168848	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	11065051	64168848	94969815	152	38981											
ZNF273	10793	broad.mit.edu	37	chr7	64388382	64388382	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaactaactcagcataagAaaactgctactagagtgaat	18	8	6	9	0	1	3	1	1	0	2	1	3	1	3	0	0	6	2	0	0	8	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:64388382A>G	ENST00000476120.1	+	4	747	c.676A>G	c.(676-678)Aaa>Gaa	p.K226E	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.K161E	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCAGCATAAGAAAACTGCTAC	0.313													36	32					0	0	0	0	G	64388382	A	G	64388382	3	3	219	1	0	0	0	0	1	0	0	0	17903	247	9	5	690	5	ZNF273	7	64388382	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	219534	64388382	94750281	153	38982											
ZSCAN21	7589	broad.mit.edu	37	chr7	99654694	99654694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctccacaggagcaggtggGgcctctgatggtaaaagtcg	9	7	15	10	1	1	1	0	1	1	0	3	2	2	2	3	5	1	2	3	5	2	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:99654694G>A	ENST00000292450.4	+	2	229	c.65G>A	c.(64-66)gGg>gAg	p.G22E	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.G22E|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.G22E	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	22					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAGCAGGTGGGGCCTCTGATG	0.537													79	44					0	0	0	0	A	99654694	G	A	99654694	3	1	219	1	0	0	0	0	1	0	0	0	18325	1232	43	4	67	4	ZSCAN21	7	99654694	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	35266312	99654694	59483969	154	38983											
IQUB	154865	broad.mit.edu	37	chr7	123092911	123092911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagccagcactggaacCtgagaaaaatagttcttagc	16	8	9	8	0	1	2	0	2	1	1	1	4	1	3	2	1	4	2	2	1	7	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:123092911C>A	ENST00000466202.1	-	13	2838	c.2262G>T	c.(2260-2262)caG>caT	p.Q754H	IQUB_ENST00000324698.6_Missense_Mutation_p.Q754H			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	754										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GCACTGGAACCTGAGAAAAAT	0.348													12	5					1.49906e-05	4.07227e-05	1	0	A	123092911	C	A	123092911	3	1	219	1	0	0	0	0	1	0	0	0	7873	680	24	4	117	4	IQUB	7	123092911	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	23438217	123092911	36045752	155	38984											
PLXNA4	91584	broad.mit.edu	37	chr7	131831391	131831391	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcttgactccactctccaGgtcaggagtgatcataggtg	9	11	10	11	0	4	2	2	2	2	0	6	3	5	3	2	3	0	0	2	3	1	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:131831391G>C	ENST00000359827.3	-	28	5895	c.4933C>G	c.(4933-4935)Ctg>Gtg	p.L1645V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1645V			Q9HCM2	PLXA4_HUMAN	plexin A4	1645						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCACTCTCCAGGTCAGGAGTG	0.577													85	50					0	0	0	0	C	131831391	G	C	131831391	3	2	219	1	0	0	0	0	1	0	0	0	12194	991	35	4	771	4	PLXNA4	7	131831391	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	8738480	131831391	27307272	156	38985											
LRGUK	136332	broad.mit.edu	37	chr7	133884049	133884049	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaacaaggaaaaatatgaGggatatttgcggagaaaagg	19	7	13	2	1	0	3	0	2	0	1	0	6	0	5	0	4	2	0	0	4	8	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:133884049G>C	ENST00000285928.2	+	14	1692	c.1623G>C	c.(1621-1623)gaG>gaC	p.E541D		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	541	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AAAAATATGAGGGATATTTGC	0.363													39	25					0	0	0	0	C	133884049	G	C	133884049	3	2	219	1	0	0	0	0	1	0	0	0	9007	991	35	4	1677	4	LRGUK	7	133884049	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	2052658	133884049	25254614	157	38986											
LONRF1	91694	broad.mit.edu	37	chr8	12586411	12586411	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagcacattttaaaataccTtaacatcttccagatattca	17	13	2	9	0	2	1	1	0	1	1	3	1	3	1	2	0	3	1	2	0	6	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:12586411T>G	ENST00000398246.3	-	10	2078	c.2010_splice	c.e10+1	p.K670_splice	LONRF1_ENST00000533751.1_Splice_Site_p.K313_splice|LONRF1_ENST00000525024.1_Splice_Site_p.K96_splice	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	670	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TTAAAATACCTTAACATCTTC	0.403													28	47					0	0	0	0	G	12586411	T	G	12586411	5	3	219	1	0	0	0	0	0	0	1	0	8958	1623	56	5	324	5	LONRF1	8	12586411	Splice_Site	SNP	T	TCGA-CR-7398-01A-11D-2012-08		12586411	133777611	158	38987											
UNC5D	137970	broad.mit.edu	37	chr8	35542267	35542267	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacttctctttgtcctGgtgagatatatgcagattcc	7	15	8	11	0	1	2	0	1	1	2	4	3	3	2	3	1	2	2	3	1	2	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:35542267G>T	ENST00000453357.2	+	6	960	c.904_splice	c.e6+1	p.V302_splice	UNC5D_ENST00000404895.2_Splice_Site_p.V307_splice|UNC5D_ENST00000416672.1_Splice_Site_p.V307_splice|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000287272.2_Intron			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	307	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCTTTGTCCTGGTGAGATATA	0.463													24	44					6.36457e-07	1.78566e-06	1	0	T	35542267	G	T	35542267	5	4	219	1	0	0	0	0	0	0	1	0	17091	1362	47	4	941	4	UNC5D	8	35542267	Splice_Site	SNP	G	TCGA-CR-7398-01A-11D-2012-08	22955856	35542267	110821755	159	38988											
PROSC	11212	broad.mit.edu	37	chr8	37623867	37623867	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaacaaaatgtcaacaaaTtgatgggtaagataaaatta	22	9	7	3	0	1	3	1	1	0	2	1	3	1	3	0	1	2	1	0	1	9	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:37623867T>C	ENST00000328195.3	+	4	380	c.313T>C	c.(313-315)Ttg>Ctg	p.L105L		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	105							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	TGTCAACAAATTGATGGGTAA	0.363													53	65					0	0	0	0	C	37623867	T	C	37623867	2	2	219	1	0	0	0	0	0	0	0	1	12639	1490	52	5		5	PROSC	8	37623867	Silent	SNP	T	TCGA-CR-7398-01A-11D-2012-08	2081600	37623867	108740155	160	38989											
PRKDC	5591	broad.mit.edu	37	chr8	48697683	48697683	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttaactcaccgggaatctCcagctcatttctcaggaact	10	11	8	12	1	4	0	3	0	2	0	6	2	4	2	2	3	3	2	2	3	3	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:48697683C>A	ENST00000314191.2	-	78	11151	c.11095G>T	c.(11095-11097)Gag>Tag	p.E3699*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E3699*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3700					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCGGGAATCTCCAGCTCATTT	0.453								Non-homologous end-joining					23	32					3.01185e-09	9.1116e-09	1	0	A	48697683	C	A	48697683	4	1	219	1	0	0	0	0	0	1	0	0	12601	864	30	2	1328	2	PRKDC	8	48697683	Nonsense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	11073816	48697683	97666339	161	38990											
RP1	6101	broad.mit.edu	37	chr8	55538955	55538955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatttttatgcaccgcaatCtcaagcagaagtggcatctg	12	11	9	9	1	2	2	1	0	2	2	3	2	2	2	1	1	2	4	1	1	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:55538955C>T	ENST00000220676.1	+	4	2661	c.2513C>T	c.(2512-2514)tCt>tTt	p.S838F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	838					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCACCGCAATCTCAAGCAGAA	0.313													22	32					0	0	0	0	T	55538955	C	T	55538955	3	4	219	1	0	0	0	0	1	0	0	0	13617	913	32	2	2523	2	RP1	8	55538955	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	6841272	55538955	90825067	162	38991											
RP1	6101	broad.mit.edu	37	chr8	55542017	55542017	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaggagaagggtagtcatCagtcagaaagagtatgcaca	16	6	13	6	0	3	4	3	0	0	4	3	5	3	4	0	2	1	3	0	2	4	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:55542017C>G	ENST00000220676.1	+	4	5723	c.5575C>G	c.(5575-5577)Cag>Gag	p.Q1859E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1859					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGGTAGTCATCAGTCAGAAAG	0.418													24	20					0	0	0	0	G	55542017	C	G	55542017	3	3	219	1	0	0	0	0	1	0	0	0	13617	827	29	2	5585	2	RP1	8	55542017	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	3062	55542017	90822005	163	38992											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886016	88886016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaggagggatcccagctatGaatctggacctttttcctct	9	12	10	10	0	2	2	0	1	2	1	4	5	4	5	3	3	1	1	3	3	2	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:88886016G>A	ENST00000319675.3	-	1	280	c.184C>T	c.(184-186)Cat>Tat	p.H62Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	62										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TCCCAGCTATGAATCTGGACC	0.512													39	50					0	0	0	0	A	88886016	G	A	88886016	3	1	219	1	0	0	0	0	1	0	0	0	4305	1290	45	2	1007	2	DCAF4L2	8	88886016	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	33343999	88886016	57478006	164	38993											
RUNX1T1	862	broad.mit.edu	37	chr8	93003886	93003886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccataggtctgtttctgtcCctgaggtccctgtggctggg	3	13	13	12	0	2	1	0	1	2	0	4	1	4	1	3	4	0	2	3	4	1	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:93003886C>T	ENST00000523629.1	-	7	1426	c.972G>A	c.(970-972)agG>agA	p.R324R	RUNX1T1_ENST00000396218.1_Silent_p.R297R|RUNX1T1_ENST00000360348.2_Silent_p.R287R|RUNX1T1_ENST00000265814.3_Silent_p.R324R|RUNX1T1_ENST00000518844.1_Silent_p.R297R|RUNX1T1_ENST00000422361.2_Silent_p.R287R|RUNX1T1_ENST00000436581.2_Silent_p.R335R|RUNX1T1_ENST00000520724.1_Silent_p.R287R	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	324					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)			TGTTTCTGTCCCTGAGGTCCC	0.512													51	107					0	0	0	0	T	93003886	C	T	93003886	2	4	219	1	0	0	0	0	0	0	0	1	13832	622	22	4		4	RUNX1T1	8	93003886	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	4117870	93003886	53360136	165	38994											
UBR5	51366	broad.mit.edu	37	chr8	103297762	103297762	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtaagtttactgcatcttgGtaagtcaatttcacagctgc	10	15	8	8	0	3	0	2	0	1	0	3	0	3	0	0	1	4	5	0	1	4	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:103297762G>C	ENST00000520539.1	-	39	6069	c.5463C>G	c.(5461-5463)taC>taG	p.Y1821*	UBR5_ENST00000521922.1_Nonsense_Mutation_p.Y1815*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.Y1821*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1821					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTGCATCTTGGTAAGTCAATT	0.373													11	69					0	0	0	0	C	103297762	G	C	103297762	4	2	219	1	0	0	0	0	0	1	0	0	17001	1256	44	4	3020	4	UBR5	8	103297762	Nonsense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	10293876	103297762	43066260	166	38995											
PKHD1L1	93035	broad.mit.edu	37	chr8	110489571	110489571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattctccaggattgctttcCtgtacatccgccatcaagaa	10	13	6	12	1	2	1	1	0	1	1	5	2	4	2	4	1	2	2	4	1	4	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:110489571C>T	ENST00000378402.5	+	53	9139	c.9035C>T	c.(9034-9036)cCt>cTt	p.P3012L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3012					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P3014H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATTGCTTTCCTGTACATCCG	0.408										HNSCC(38;0.096)			23	33					0	0	0	0	T	110489571	C	T	110489571	3	4	219	1	0	0	0	0	1	0	0	0	12044	681	24	4	9245	4	PKHD1L1	8	110489571	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	7191809	110489571	35874451	167	38996											
CSMD3	114788	broad.mit.edu	37	chr8	113259248	113259248	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcttatccataatacttaCgtatgcattcaggctgaatc	11	16	5	9	1	2	1	1	1	1	0	4	1	3	1	1	1	3	3	1	1	6	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:113259248C>A	ENST00000297405.5	-	64	10467		c.e64+1		CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAATACTTACGTATGCATTC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	35					1.15088e-07	3.30636e-07	1	0	A	113259248	C	A	113259248	5	1	219	1	0	0	0	0	0	0	1	0	3978	550	19	3	932	3	CSMD3	8	113259248	Splice_Site	SNP	C	TCGA-CR-7398-01A-11D-2012-08	2769677	113259248	33104774	168	38997											
NOV	4856	broad.mit.edu	37	chr8	120430512	120430512	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagtggatctgtggcccAgatgaggaggattcactggg	11	8	16	6	0	2	2	1	1	1	1	2	6	2	5	1	5	0	0	1	5	2	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:120430512A>T	ENST00000259526.3	+	3	752	c.525A>T	c.(523-525)ccA>ccT	p.P175P		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	175					regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTGTGGCCCAGATGAGGAGG	0.502													50	78					0	0	0	0	T	120430512	A	T	120430512	2	4	219	1	0	0	0	0	0	0	0	1	10623	175	7	5		5	NOV	8	120430512	Silent	SNP	A	TCGA-CR-7398-01A-11D-2012-08	7171264	120430512	25933510	169	38998											
LYPD2	137797	broad.mit.edu	37	chr8	143832542	143832542	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgatggtgacacagtcCgacactcctgtgggctccgg	6	8	15	12	3	0	1	0	1	0	0	3	3	3	1	3	4	0	1	3	4	0	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:143832542C>A	ENST00000359228.3	-	2	187	c.105G>T	c.(103-105)tcG>tcT	p.S35S		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	35	UPAR/Ly6.					anchored to membrane|plasma membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGACACAGTCCGACACTCCTG	0.652													46	61					1.23713e-20	4.30837e-20	1	0	A	143832542	C	A	143832542	2	1	219	1	0	0	0	0	0	0	0	1	9175	639	23	3		3	LYPD2	8	143832542	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	23402030	143832542	2531480	170	38999											
PTPRD	5789	broad.mit.edu	37	chr9	8485777	8485777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccttgatccacaggcaGtgtcctgaactggacactgg	9	9	10	13	0	0	2	0	2	0	0	2	3	2	3	4	3	2	1	4	3	2	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:8485777G>T	ENST00000381196.4	-	25	3583	c.3040C>A	c.(3040-3042)Ctg>Atg	p.L1014M	PTPRD_ENST00000360074.4_Missense_Mutation_p.L1001M|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1014M|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1014M|PTPRD_ENST00000358503.5_Missense_Mutation_p.L992M|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1014					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCACAGGCAGTGTCCTGAAC	0.448										TSP Lung(15;0.13)			13	13					2.68362e-12	8.55047e-12	1	0	T	8485777	G	T	8485777	3	4	219	1	0	0	0	0	1	0	0	0	12881	1020	36	4	2842	4	PTPRD	9	8485777	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08		8485777	132727654	171	39000											
IFNA6	3443	broad.mit.edu	37	chr9	21350709	21350709	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcctcctggggaaatcTgaagtcatgtctgtccttca	10	12	8	11	0	4	1	2	1	2	0	7	2	7	2	3	2	1	0	3	2	3	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:21350709T>C	ENST00000380210.1	-	1	668	c.178A>G	c.(178-180)Aga>Gga	p.R60G		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	60					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGGGGAAATCTGAAGTCATGT	0.522													64	30					0	0	0	0	C	21350709	T	C	21350709	3	2	219	1	0	0	0	0	1	0	0	0	7594	1588	55	5	393	5	IFNA6	9	21350709	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	12864932	21350709	119862722	172	39001											
TRPM6	140803	broad.mit.edu	37	chr9	77354822	77354822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcctctcgggacaatacCtggatcattgccgctctccc	7	11	7	16	2	4	0	1	0	3	0	7	2	4	2	4	2	2	1	4	2	2	2	rs144713167		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:77354822C>A	ENST00000451710.3	-	33	5553	c.5316G>T	c.(5314-5316)caG>caT	p.Q1772H	TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1763H|TRPM6_ENST00000376871.3_Missense_Mutation_p.Q605H|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1772H|TRPM6_ENST00000360774.1_Missense_Mutation_p.Q1768H|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1763H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q723H			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1768	Alpha-type protein kinase.				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						GGGACAATACCTGGATCATTG	0.498													33	53					2.08457e-15	6.93698e-15	1	0	A	77354822	C	A	77354822	3	1	219	1	0	0	0	0	1	0	0	0	16685	680	24	4	788	4	TRPM6	9	77354822	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	56004113	77354822	63858609	173	39002											
RASEF	158158	broad.mit.edu	37	chr9	85627405	85627405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatcttccttttgacttaCgcgttttgattgttcttcga	6	19	6	10	3	2	2	0	2	2	0	4	3	3	2	1	0	1	2	1	0	1	9			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:85627405C>T	ENST00000376447.3	-	5	1047	c.787G>A	c.(787-789)Gta>Ata	p.V263I		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	263					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTTGACTTACGCGTTTTGAT	0.333													5	14					0	0	0	0	T	85627405	C	T	85627405	3	4	219	1	0	0	0	0	1	0	0	0	13150	536	19	1	1487	1	RASEF	9	85627405	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	8272583	85627405	55586026	174	39003											
MUSK	4593	broad.mit.edu	37	chr9	113459720	113459720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcctcgggacagcatattCcaaagtggtgaagctggaag	12	7	13	9	1	0	1	0	1	0	0	2	3	1	3	2	3	3	2	2	3	4	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:113459720C>T	ENST00000416899.2	+	5	728	c.602C>T	c.(601-603)tCc>tTc	p.S201F	MUSK_ENST00000374448.4_Missense_Mutation_p.S201F|MUSK_ENST00000189978.5_Missense_Mutation_p.S201F|MUSK_ENST00000374440.3_Missense_Mutation_p.S83F|MUSK_ENST00000374439.1_Missense_Mutation_p.S83F			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	201	Ig-like 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACAGCATATTCCAAAGTGGTG	0.507													46	42					0	0	0	0	T	113459720	C	T	113459720	3	4	219	1	0	0	0	0	1	0	0	0	10059	855	30	2	620	2	MUSK	9	113459720	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	27832315	113459720	27753711	175	39004											
ZNF883	169834	broad.mit.edu	37	chr9	115760032	115760032	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaatgaattccctgatgttCaattaggtgtgtgctgcggc	9	13	12	7	1	1	3	1	2	0	1	2	3	2	3	1	2	2	2	1	2	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:115760032C>T	ENST00000427548.1	-	0	1781							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CCCTGATGTTCAATTAGGTGT	0.403													29	45					0	0	0	0	T	115760032	C	T	115760032	1	4	219	0	1	0	0	0	0	0	0	0	18291	835	29	2		2	ZNF883	9	115760032	RNA	SNP	C	TCGA-CR-7398-01A-11D-2012-08	2300312	115760032	25453399	176	39005											
ZNF618	114991	broad.mit.edu	37	chr9	116764924	116764924	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaccgaagccacctcagggGagggagcctcccaaagcagt	12	3	12	14	1	1	0	1	0	0	0	2	3	2	2	5	3	3	1	5	3	2	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:116764924G>T	ENST00000288466.7	+	5	535	c.436G>T	c.(436-438)Gag>Tag	p.E146*	ZNF618_ENST00000374126.5_Nonsense_Mutation_p.E178*	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CACCTCAGGGGAGGGAGCCTC	0.612													27	81					0.000147802	0.00039174	1	0	T	116764924	G	T	116764924	4	4	219	1	0	0	0	0	0	1	0	0	18137	1175	41	2	454	2	ZNF618	9	116764924	Nonsense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1004892	116764924	24448507	177	39006											
COL27A1	85301	broad.mit.edu	37	chr9	117071686	117071686	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccaagcaggccgtacgcttCcgggcctggaatggacagat	9	6	14	12	3	0	1	0	0	0	1	1	3	1	3	4	4	2	3	4	4	3	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:117071686C>T	ENST00000356083.3	+	60	5755	c.5364C>T	c.(5362-5364)ttC>ttT	p.F1788F		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1788	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCGTACGCTTCCGGGCCTGGA	0.607													46	66					0	0	0	0	T	117071686	C	T	117071686	2	4	219	1	0	0	0	0	0	0	0	1	3715	854	30	2		2	COL27A1	9	117071686	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	306762	117071686	24141745	178	39007											
FBXW2	26190	broad.mit.edu	37	chr9	123550177	123550177	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagccttcaaataaaccttCttccagtgcaaagcgtcctg	12	11	6	12	1	2	0	1	0	1	0	4	0	4	0	4	0	4	1	4	0	5	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:123550177C>T	ENST00000373926.3	-	3	547	c.360G>A	c.(358-360)aaG>aaA	p.K120K	FBXW2_ENST00000340778.5_Silent_p.K120K	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	120					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						AATAAACCTTCTTCCAGTGCA	0.443													45	55					0	0	0	0	T	123550177	C	T	123550177	2	4	219	1	0	0	0	0	0	0	0	1	5811	912	32	2		2	FBXW2	9	123550177	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	6478491	123550177	17663254	179	39008											
OR1Q1	158131	broad.mit.edu	37	chr9	125377755	125377755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcggctcccacctcactGtggtggccatattctatggc	5	11	10	15	1	2	0	1	0	1	0	3	0	3	0	4	4	1	1	4	4	2	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:125377755G>A	ENST00000297913.2	+	1	808	c.739G>A	c.(739-741)Gtg>Atg	p.V247M	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CCACCTCACTGTGGTGGCCAT	0.547													44	72					0	0	0	0	A	125377755	G	A	125377755	3	1	219	1	0	0	0	0	1	0	0	0	11042	1377	48	4	741	4	OR1Q1	9	125377755	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1827578	125377755	15835676	180	39009											
OR1B1	347169	broad.mit.edu	37	chr9	125391641	125391641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagataatacatgggtgaGtgcagtctggagtcccagga	12	8	14	7	0	1	2	0	1	1	1	2	4	2	4	1	3	3	2	1	3	2	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:125391641G>A	ENST00000304833.3	-	1	211	c.174C>T	c.(172-174)caC>caT	p.H58H	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						ACATGGGTGAGTGCAGTCTGG	0.522													20	37					0	0	0	0	A	125391641	G	A	125391641	2	1	219	1	0	0	0	0	0	0	0	1	11022	1020	36	4		4	OR1B1	9	125391641	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	13886	125391641	15821790	181	39010											
LCN1	3933	broad.mit.edu	37	chr9	138415086	138415086	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgttttccaggataagtgGccggtgccaggaggtgaagg	8	10	16	7	1	1	1	0	1	1	0	2	3	2	3	3	6	1	1	3	6	2	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:138415086G>C	ENST00000263598.2	+	3	290	c.230G>C	c.(229-231)gGc>gCc	p.G77A	LCN1_ENST00000371781.3_Missense_Mutation_p.G77A	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	77					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AGGATAAGTGGCCGGTGCCAG	0.637													11	33					0	0	0	0	C	138415086	G	C	138415086	3	2	219	1	0	0	0	0	1	0	0	0	8733	1203	42	4	240	4	LCN1	9	138415086	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	13023445	138415086	2798345	182	39011											
CACNA1B	774	broad.mit.edu	37	chr9	140901299	140901299	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcaaaggcatgttctcGtccttttacttcattgtcct	7	16	7	11	1	3	0	2	0	1	0	6	0	5	0	2	1	2	3	2	1	2	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:140901299G>A	ENST00000371372.1	+	16	2200	c.2055G>A	c.(2053-2055)tcG>tcA	p.S685S	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Silent_p.S686S|CACNA1B_ENST00000277551.2_Silent_p.S685S|CACNA1B_ENST00000371363.1_Silent_p.S685S|CACNA1B_ENST00000371357.1_Silent_p.S686S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	685					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCATGTTCTCGTCCTTTTACT	0.552													6	17					0	0	0	0	A	140901299	G	A	140901299	2	1	219	1	0	0	0	0	0	0	0	1	2564	1132	40	1		1	CACNA1B	9	140901299	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	2486213	140901299	312132	183	39012											
TUBB8	347688	broad.mit.edu	37	chr10	93792	93792	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggcgttgtagggctcCaccacggtgtccgacacctt	6	9	14	12	3	0	0	0	0	0	0	2	1	2	0	4	4	0	3	4	4	1	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:93792C>A	ENST00000447903.2	-	4	639	c.324G>T	c.(322-324)gtG>gtT	p.V108V	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Silent_p.V180V			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	180					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TGTAGGGCTCCACCACGGTGT	0.517													21	71					1.06801e-11	3.35821e-11	1	0	A	93792	C	A	93792	2	1	219	1	0	0	0	0	0	0	0	1	16857	581	21	4		4	TUBB8	10	93792	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08		93792	135440955	184	39013											
FAM171A1	221061	broad.mit.edu	37	chr10	15255068	15255068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggctccgagggggcatccGcagtccgtctggtcgtctcc	3	9	14	15	4	2	0	0	0	2	0	7	1	5	0	4	4	0	3	4	4	0	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:15255068G>A	ENST00000378116.4	-	8	2525	c.2519C>T	c.(2518-2520)gCg>gTg	p.A840V		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	840						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGGGGCATCCGCAGTCCGTCT	0.617													39	83					0	0	0	0	A	15255068	G	A	15255068	3	1	219	1	0	0	0	0	1	0	0	0	5531	1087	38	1	157	1	FAM171A1	10	15255068	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	15161276	15255068	120279679	185	39014											
CUBN	8029	broad.mit.edu	37	chr10	16994277	16994277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatttttgttacttacatGgaggttgcgcttgaatgatc	8	18	9	6	1	1	2	1	2	0	0	2	3	1	3	0	2	3	3	0	2	3	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:16994277G>C	ENST00000377833.4	-	33	5032	c.4967C>G	c.(4966-4968)cCa>cGa	p.P1656R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1656	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTACTTACATGGAGGTTGCGC	0.438													21	36					0	0	0	0	C	16994277	G	C	16994277	3	2	219	1	0	0	0	0	1	0	0	0	4083	1348	47	4	6044	4	CUBN	10	16994277	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1739209	16994277	118540470	186	39015											
CUBN	8029	broad.mit.edu	37	chr10	16996484	16996484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaggagacgatggggttagCcagctgctcccttccacacg	8	8	13	12	2	0	2	0	1	0	1	2	4	2	2	3	3	3	3	3	3	1	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:16996484C>A	ENST00000377833.4	-	32	4824	c.4759G>T	c.(4759-4761)Gct>Tct	p.A1587S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1587	CUB 10.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGGGGTTAGCCAGCTGCTCC	0.532													29	43					4.59853e-10	1.41257e-09	1	0	A	16996484	C	A	16996484	3	1	219	1	0	0	0	0	1	0	0	0	4083	739	26	4	6256	4	CUBN	10	16996484	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	2207	16996484	118538263	187	39016											
CUBN	8029	broad.mit.edu	37	chr10	17165686	17165686	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaacctttttgtcaacAgtctgaaacaaaaacaggac	16	9	6	10	0	2	1	1	1	1	0	2	2	2	2	1	1	5	1	1	1	5	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:17165686A>T	ENST00000377833.4	-	5	455	c.390T>A	c.(388-390)acT>acA	p.T130T	CUBN_ENST00000377823.1_Silent_p.T130T	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	130					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTGTCAACAGTCTGAAACA	0.443													6	5					0	0	0	0	T	17165686	A	T	17165686	2	4	219	1	0	0	0	0	0	0	0	1	4083	175	7	5		5	CUBN	10	17165686	Silent	SNP	A	TCGA-CR-7398-01A-11D-2012-08	169202	17165686	118369061	188	39017											
GPR158	57512	broad.mit.edu	37	chr10	25886754	25886754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatataaaagaaagaagatGatcacaaacaacccccacct	21	6	4	10	0	1	4	1	1	0	3	1	4	1	4	3	0	2	0	3	0	8	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:25886754G>T	ENST00000376351.3	+	11	2558	c.2199G>T	c.(2197-2199)atG>atT	p.M733I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	733						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M733I(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAAAGAAGATGATCACAAACA	0.448													34	68					3.66082e-28	1.3536e-27	1	0	T	25886754	G	T	25886754	3	4	219	1	0	0	0	0	1	0	0	0	6712	1290	45	2	2241	2	GPR158	10	25886754	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	8721068	25886754	109647993	189	39018											
ZNF37A	7587	broad.mit.edu	37	chr10	38407754	38407754	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtagtaaacgagggaaatTactctgggtgaagtcagaac	15	9	12	5	1	2	2	1	1	1	1	2	4	2	3	0	2	3	2	0	2	7	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:38407754T>G	ENST00000351773.3	+	8	2505	c.1675T>G	c.(1675-1677)Tac>Gac	p.Y559D	ZNF37A_ENST00000361085.4_Missense_Mutation_p.Y559D	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	559						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CGAGGGAAATTACTCTGGGTG	0.353													3	7					0	0	0	0	G	38407754	T	G	38407754	3	3	219	1	0	0	0	0	1	0	0	0	17967	1754	61	5	1689	5	ZNF37A	10	38407754	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	12521000	38407754	97126993	190	39019											
RBP3	5949	broad.mit.edu	37	chr10	48388466	48388466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatacaggtgctggcggggCtctgcctcaaagaagtagga	11	7	15	8	1	2	1	1	0	1	1	2	3	2	2	1	5	3	3	1	5	5	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:48388466C>A	ENST00000224600.4	-	1	2525	c.2412G>T	c.(2410-2412)gaG>gaT	p.E804D		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	804	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCTGGCGGGGCTCTGCCTCAA	0.627													8	8					0.00307968	0.00791729	1	0	A	48388466	C	A	48388466	3	1	219	1	0	0	0	0	1	0	0	0	13239	796	28	4	1347	4	RBP3	10	48388466	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	9980712	48388466	87146281	191	39020											
JMJD1C	221037	broad.mit.edu	37	chr10	64944479	64944479	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atattctggcaatggcagacTttttaaaagatcttcgtatc	12	15	7	7	1	2	2	0	0	2	2	4	2	2	2	0	2	0	3	0	2	5	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:64944479T>A	ENST00000399262.2	-	21	7068	c.6850A>T	c.(6850-6852)Agt>Tgt	p.S2284C	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S2047C|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S2102C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2284	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AATGGCAGACTTTTTAAAAGA	0.333													16	26					0	0	0	0	A	64944479	T	A	64944479	3	1	219	1	0	0	0	0	1	0	0	0	8003	1609	56	5	796	5	JMJD1C	10	64944479	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	16556013	64944479	70590268	192	39021											
C10orf35	219738	broad.mit.edu	37	chr10	71392595	71392595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggggtcctggcccccGccagcagcaggcaggtgcca	6	3	15	17	1	0	0	0	0	0	0	1	0	1	0	6	5	3	3	6	5	0	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:71392595G>T	ENST00000373279.4	+	4	305	c.146G>T	c.(145-147)cGc>cTc	p.R49L	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	49						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CCTGGCCCCCGCCAGCAGCAG	0.602													17	19					1.99824e-07	5.68619e-07	1	0	T	71392595	G	T	71392595	3	4	219	1	0	0	0	0	1	0	0	0	1613	1087	38	3	152	3	C10orf35	10	71392595	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	6448116	71392595	64142152	193	39022											
PCGF5	84333	broad.mit.edu	37	chr10	93011162	93011162	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatctgtctagattgtttaCgaaataatgggcaatcaggg	12	13	10	6	1	3	1	1	0	2	1	3	2	3	1	0	2	1	2	0	2	6	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:93011162C>G	ENST00000336126.5	+	6	671	c.439C>G	c.(439-441)Cga>Gga	p.R147G	PCGF5_ENST00000543648.1_Missense_Mutation_p.R147G	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						AGATTGTTTACGAAATAATGG	0.343													16	30					0	0	0	0	G	93011162	C	G	93011162	3	3	219	1	0	0	0	0	1	0	0	0	11648	528	19	3	457	3	PCGF5	10	93011162	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	21618567	93011162	42523585	194	39023											
HPSE2	60495	broad.mit.edu	37	chr10	100401623	100401623	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgaattttcctaatcTggtcagagagtgtgtctaac	9	16	8	8	0	4	2	1	1	3	1	5	3	5	2	1	1	1	0	1	1	3	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:100401623T>A	ENST00000370552.3	-	7	1138	c.1079A>T	c.(1078-1080)cAg>cTg	p.Q360L	HPSE2_ENST00000370546.1_Missense_Mutation_p.Q360L|HPSE2_ENST00000370549.1_Missense_Mutation_p.Q302L|HPSE2_ENST00000404542.1_Missense_Mutation_p.Q248L	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	360					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTTCCTAATCTGGTCAGAGAG	0.428													69	107					0	0	0	0	A	100401623	T	A	100401623	3	1	219	1	0	0	0	0	1	0	0	0	7395	1580	55	5	761	5	HPSE2	10	100401623	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	7390461	100401623	35133124	195	39024											
HPSE2	60495	broad.mit.edu	37	chr10	100481443	100481443	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcgatgacattcttcctCggccgcccaatattagggcc	8	9	11	13	3	1	1	0	1	1	0	3	2	2	1	4	3	0	0	4	3	3	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:100481443C>A	ENST00000370552.3	-	5	986	c.927G>T	c.(925-927)ccG>ccT	p.P309P	HPSE2_ENST00000370546.1_Silent_p.P309P|HPSE2_ENST00000370549.1_Silent_p.P251P|HPSE2_ENST00000404542.1_Silent_p.P197P	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	309					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CATTCTTCCTCGGCCGCCCAA	0.438													14	31					0.000151284	0.000400086	1	0	A	100481443	C	A	100481443	2	1	219	1	0	0	0	0	0	0	0	1	7395	871	31	3		3	HPSE2	10	100481443	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	79820	100481443	35053304	196	39025											
SORCS3	22986	broad.mit.edu	37	chr10	107016579	107016579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctgttcttctttccaagctCcattggtggactccagtgct	5	16	8	12	0	3	0	0	0	3	0	6	1	6	1	3	2	2	3	3	2	1	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:107016579C>T	ENST00000369701.3	+	25	3567	c.3340C>T	c.(3340-3342)Cca>Tca	p.P1114S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1114						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTTCCAAGCTCCATTGGTGGA	0.458													16	10					0	0	0	0	T	107016579	C	T	107016579	3	4	219	1	0	0	0	0	1	0	0	0	15020	855	30	2	3438	2	SORCS3	10	107016579	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	6535136	107016579	28518168	197	39026											
SORCS1	114815	broad.mit.edu	37	chr10	108923992	108923992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgtgcagcaaccgccatgGatgccccagtgccccgagcc	8	4	12	17	3	0	0	0	0	0	0	0	2	0	1	7	1	7	2	7	1	1	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:108923992G>T	ENST00000263054.6	-	1	300	c.293C>A	c.(292-294)tCc>tAc	p.S98Y	SORCS1_ENST00000344440.6_Missense_Mutation_p.S98Y	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	98						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AACCGCCATGGATGCCCCAGT	0.726													10	18					1.76689e-08	5.16278e-08	1	0	T	108923992	G	T	108923992	3	4	219	1	0	0	0	0	1	0	0	0	15018	1174	41	2	3551	2	SORCS1	10	108923992	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1907413	108923992	26610755	198	39027											
EMX2	2018	broad.mit.edu	37	chr10	119305325	119305325	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctcagcctcacggaaactCaggtgactgcggcccgggcg	7	5	14	15	4	3	1	3	1	0	0	3	2	3	2	3	4	3	0	3	4	1	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:119305325C>G	ENST00000553456.3	+	2	1413	c.589C>G	c.(589-591)Cag>Gag	p.Q197E	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Intron	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	197						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CACGGAAACTCAGGTGACTGC	0.632													5	17					0	0	0	0	G	119305325	C	G	119305325	3	3	219	1	0	0	0	0	1	0	0	0	5146	827	29	2	595	2	EMX2	10	119305325	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	10381333	119305325	16229422	199	39028											
MKI67	4288	broad.mit.edu	37	chr10	129913444	129913444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctggcttagtggcagagtCagctgcatcttcaactttag	8	14	10	9	0	4	1	2	0	2	1	4	1	4	1	0	2	3	4	0	2	3	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:129913444C>T	ENST00000368654.3	-	7	1603	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	410					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGGCAGAGTCAGCTGCATCT	0.438													32	58					0	0	0	0	T	129913444	C	T	129913444	3	4	219	1	0	0	0	0	1	0	0	0	9667	826	29	2	8578	2	MKI67	10	129913444	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	10608119	129913444	5621303	200	39029											
MGMT	4255	broad.mit.edu	37	chr10	131557583	131557583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caaagccgcgcgagcagtggGaggagcaatgagaggcaatc	13	3	16	9	3	0	1	0	1	0	1	1	5	0	3	1	3	3	3	1	3	3	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:131557583G>C	ENST00000306010.7	+	4	517	c.485G>C	c.(484-486)gGa>gCa	p.G162A		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	162										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CGAGCAGTGGGAGGAGCAATG	0.562								Direct reversal of damage					23	40					0	0	0	0	C	131557583	G	C	131557583	3	2	219	1	0	0	0	0	1	0	0	0	9626	1174	41	2	499	2	MGMT	10	131557583	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1644139	131557583	3977164	201	39030											
TUBGCP2	10844	broad.mit.edu	37	chr10	135106020	135106020	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctgtatgggtcgtggatGatgcccctgtagatccactt	7	13	11	10	1	0	2	0	1	0	1	2	3	1	3	4	2	2	2	4	2	3	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:135106020G>A	ENST00000368563.2	-	8	1553	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	TUBGCP2_ENST00000543663.1_Silent_p.I427I|TUBGCP2_ENST00000252936.3_Silent_p.I399I|TUBGCP2_ENST00000417178.2_Silent_p.I269I	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	399					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGTCGTGGATGATGCCCCTGT	0.632													8	19					0	0	0	0	A	135106020	G	A	135106020	2	1	219	1	0	0	0	0	0	0	0	1	16862	1280	45	2		2	TUBGCP2	10	135106020	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	3548437	135106020	428727	202	39031											
FRG2B	441581	broad.mit.edu	37	chr10	135440184	135440184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatctgttggaaagggggCtggtcagtggagcactggat	9	9	18	5	0	2	1	1	0	1	1	2	5	2	4	0	6	1	3	0	6	1	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:135440184C>A	ENST00000443774.1	-	1	112	c.63G>T	c.(61-63)caG>caT	p.Q21H	FRG2B_ENST00000425520.1_Missense_Mutation_p.Q21H			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	21						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGAAAGGGGGCTGGTCAGTGG	0.507													15	170					5.03518e-11	1.57087e-10	1	0	A	135440184	C	A	135440184	3	1	219	1	0	0	0	0	1	0	0	0	6095	796	28	4	788	4	FRG2B	10	135440184	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	334164	135440184	94563	203	39032											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629194	1629194	+	Missense_Mutation	SNP	C	C	A																															actggcagcaggatgacccaCagcctgaggagcagcagcag																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:1629194C>A	ENST00000399685.1	-	1	499	c.422G>T	c.(421-423)tGt>tTt	p.C141F		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	141	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGATGACCCACAGCCTGAGGA	0.632													97	150					8.75711e-35	3.34109e-34	1	0	A	1629194	C	A	1629194	3	1	219	1	0	0	0	0	1	0	0	0	8615	478	17	4	298	4	KRTAP5-3	11	1629194	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08		1629194	133377322	204	39033	292	2									
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629195	1629195	+	Missense_Mutation	SNP	A	A	G																															ctggcagcaggatgacccacAgcctgaggagcagcagcagg																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:1629195A>G	ENST00000399685.1	-	1	498	c.421T>C	c.(421-423)Tgt>Cgt	p.C141R		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	141	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GATGACCCACAGCCTGAGGAG	0.632													96	150					0	0	0	0	G	1629195	A	G	1629195	3	3	219	1	0	0	0	0	1	0	0	0	8615	188	7	5	299	5	KRTAP5-3	11	1629195	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	1	1629195	133377321	205	39034	292	2									
TRIM68	55128	broad.mit.edu	37	chr11	4621792	4621792	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccttatcacccagaatccaTagtggggggataagtagacc	12	8	11	10	0	1	2	1	0	0	2	2	3	2	3	4	3	0	1	4	3	5	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:4621792T>C	ENST00000300747.5	-	7	1461	c.1172A>G	c.(1171-1173)tAt>tGt	p.Y391C		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	391	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCAGAATCCATAGTGGGGGGA	0.572													18	35					0	0	0	0	C	4621792	T	C	4621792	3	2	219	1	0	0	0	0	1	0	0	0	16636	1406	49	5	289	5	TRIM68	11	4621792	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	2992597	4621792	130384724	206	39035											
TRIM22	10346	broad.mit.edu	37	chr11	5730671	5730671	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcttctgatcccaaGgttttgactctctttatggc	5	17	6	13	0	3	2	0	2	3	0	7	2	6	2	3	2	0	1	3	2	2	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:5730671G>A	ENST00000379965.3	+	8	1567	c.1290G>A	c.(1288-1290)aaG>aaA	p.K430K	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	430	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		CTGATCCCAAGGTTTTGACTC	0.423													44	80					0	0	0	0	A	5730671	G	A	5730671	2	1	219	1	0	0	0	0	0	0	0	1	16591	991	35	4		4	TRIM22	11	5730671	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1108879	5730671	129275845	207	39036											
OR52E4	390081	broad.mit.edu	37	chr11	5905604	5905604	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggacactttacatatcTggatttctttcccattctgt	8	17	6	10	0	3	0	0	0	3	0	4	3	4	2	1	2	1	0	1	2	2	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:5905604T>A	ENST00000316987.2	+	1	104	c.82T>A	c.(82-84)Tgg>Agg	p.W28R		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTACATATCTGGATTTCTTT	0.443													80	117					0	0	0	0	A	5905604	T	A	5905604	3	1	219	1	0	0	0	0	1	0	0	0	11187	1580	55	5	84	5	OR52E4	11	5905604	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	174933	5905604	129100912	208	39037											
NLRP14	338323	broad.mit.edu	37	chr11	7068026	7068026	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgaatatcctgcatcatGaactaaggcacccaaactgt	15	9	6	11	0	1	2	1	2	0	0	2	2	2	2	2	1	3	2	2	1	6	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:7068026G>T	ENST00000299481.4	+	5	2432	c.2086G>T	c.(2086-2088)Gaa>Taa	p.E696*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	696					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCTGCATCATGAACTAAGGCA	0.373													36	59					1.36161e-19	4.66061e-19	1	0	T	7068026	G	T	7068026	4	4	219	1	0	0	0	0	0	1	0	0	10546	1291	45	2	2100	2	NLRP14	11	7068026	Nonsense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1162422	7068026	127938490	209	39038											
INSC	387755	broad.mit.edu	37	chr11	15260557	15260557	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgagtccagcagaaagctGcagtgaccctggctcgtctc	9	7	12	13	2	1	2	0	1	1	1	4	3	2	2	2	1	4	4	2	1	1	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:15260557G>C	ENST00000379554.3	+	11	1517	c.1471G>C	c.(1471-1473)Gca>Cca	p.A491P	INSC_ENST00000379556.3_Missense_Mutation_p.A444P|INSC_ENST00000528567.1_Missense_Mutation_p.A444P|INSC_ENST00000530161.1_Missense_Mutation_p.A444P|INSC_ENST00000525218.1_Missense_Mutation_p.A402P|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.A402P	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	491					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GCAGAAAGCTGCAGTGACCCT	0.607													14	27					0	0	0	0	C	15260557	G	C	15260557	3	2	219	1	0	0	0	0	1	0	0	0	7817	1319	46	4	1513	4	INSC	11	15260557	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	8192531	15260557	119745959	210	39039											
DBX1	120237	broad.mit.edu	37	chr11	20178181	20178181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagatcaggggctccggggGacgcacgggggcggggagtg	6	4	22	9	4	2	1	2	0	0	1	3	3	3	3	1	8	0	2	1	8	0	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:20178181G>A	ENST00000227256.3	-	4	727	c.728C>T	c.(727-729)tCc>tTc	p.S243F	DBX1_ENST00000524983.2_Intron	NM_001029865.2	NP_001025036.2	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	223					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GGCTCCGGGGGACGCACGGGG	0.627													24	43					0	0	0	0	A	20178181	G	A	20178181	3	1	219	1	0	0	0	0	1	0	0	0	4292	1174	41	2	424	2	DBX1	11	20178181	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	4917624	20178181	114828335	211	39040											
MUC15	143662	broad.mit.edu	37	chr11	26587419	26587419	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaacattgtaggcttctttGgtattggtttttttttaaag	8	20	8	5	0	1	0	0	0	1	0	1	0	1	0	1	3	1	4	1	3	5	11			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:26587419G>C	ENST00000436318.2	-	2	201	c.68C>G	c.(67-69)cCa>cGa	p.P23R	MUC15_ENST00000527569.1_Missense_Mutation_p.P23R|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_5'UTR|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.P23R|MUC15_ENST00000281268.8_Missense_Mutation_p.P23R|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	0						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGGCTTCTTTGGTATTGGTTT	0.289													19	29					0	0	0	0	C	26587419	G	C	26587419	3	2	219	1	0	0	0	0	1	0	0	0	10042	1348	47	4	1029	4	MUC15	11	26587419	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	6409238	26587419	108419097	212	39041											
DCDC1	341019	broad.mit.edu	37	chr11	30928266	30928266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcaggtgagagataacAgtatccctaaaatgggagac	15	8	10	8	0	1	3	1	1	0	2	3	5	3	3	2	2	1	1	2	2	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:30928266A>G	ENST00000597505.1	-	28	3924	c.3925T>C	c.(3925-3927)Tgt>Cgt	p.C1309R	DCDC1_ENST00000339794.5_Missense_Mutation_p.C388R|DCDC1_ENST00000406071.2_Missense_Mutation_p.C44R			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GAGAGATAACAGTATCCCTAA	0.368													9	15					0	0	0	0	G	30928266	A	G	30928266	3	3	219	1	0	0	0	0	1	0	0	0	4316	203	7	5		5	DCDC1	11	30928266	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	4340847	30928266	104078250	213	39042											
DCDC1	341019	broad.mit.edu	37	chr11	31086589	31086589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgctaagtttctgccatGttcctgatgagctgtggtcc	5	16	10	10	0	2	2	0	2	2	0	4	2	4	2	3	1	3	4	3	1	1	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:31086589G>T	ENST00000597505.1	-	17	2409	c.2410C>A	c.(2410-2412)Cat>Aat	p.H804N	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTTCTGCCATGTTCCTGATGA	0.423													17	29					4.35082e-09	1.30634e-08	1	0	T	31086589	G	T	31086589	3	4	219	1	0	0	0	0	1	0	0	0	4316	1392	48	4		4	DCDC1	11	31086589	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	158323	31086589	103919927	214	39043											
LRRC4C	57689	broad.mit.edu	37	chr11	40137513	40137513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttcaatggttctgatatgGttcctactcaactgtaggat	10	16	8	7	0	3	1	2	1	1	0	4	2	4	2	1	3	2	3	1	3	5	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:40137513G>T	ENST00000278198.2	-	2	2293	c.330C>A	c.(328-330)aaC>aaA	p.N110K	LRRC4C_ENST00000527150.1_Missense_Mutation_p.N110K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N110K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.N110K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	110					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTCTGATATGGTTCCTACTCA	0.453													24	27					1.9806e-07	5.64942e-07	1	0	T	40137513	G	T	40137513	3	4	219	1	0	0	0	0	1	0	0	0	9072	1252	44	4	1596	4	LRRC4C	11	40137513	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	9050924	40137513	94869003	215	39044											
OR4C3	256144	broad.mit.edu	37	chr11	48346810	48346810	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctatggctcctaaactCattgctgactcattgtatga	9	16	6	10	0	4	2	2	2	2	0	5	2	5	2	1	1	2	3	1	1	4	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:48346810C>A	ENST00000319856.4	+	1	339	c.318C>A	c.(316-318)ctC>ctA	p.L106L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTCCTAAACTCATTGCTGACT	0.463													31	241					4.16155e-14	1.34744e-13	1	0	A	48346810	C	A	48346810	2	1	219	1	0	0	0	0	0	0	0	1	11121	813	29	2		2	OR4C3	11	48346810	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	8209297	48346810	86659706	216	39045											
OR4A5	81318	broad.mit.edu	37	chr11	51411675	51411675	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggacaacaacggtacTgccggagctgcaggtagaca	15	4	13	9	2	0	2	0	0	0	2	0	4	0	4	1	4	6	4	1	4	5	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:51411675T>A	ENST00000319760.6	-	1	773	c.721A>T	c.(721-723)Agt>Tgt	p.S241C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S241C(1)		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)				ACAACGGTACTGCCGGAGCTG	0.398													18	25					0	0	0	0	A	51411675	T	A	51411675	3	1	219	1	0	0	0	0	1	0	0	0	11114	1580	55	5	230	5	OR4A5	11	51411675	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	3064865	51411675	83594841	217	39046											
OR5L1	219437	broad.mit.edu	37	chr11	55579555	55579555	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgttcctggtggccactTtgaatgagagtgttaccatc	7	14	11	9	0	0	2	0	2	0	1	2	3	1	2	3	2	2	3	3	2	2	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:55579555T>A	ENST00000333973.2	+	1	702	c.613T>A	c.(613-615)Ttg>Atg	p.L205M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGTGGCCACTTTGAATGAGAG	0.463													48	101					0	0	0	0	A	55579555	T	A	55579555	3	1	219	1	0	0	0	0	1	0	0	0	11241	1838	64	5	615	5	OR5L1	11	55579555	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	4167880	55579555	79426961	218	39047											
OR8K5	219453	broad.mit.edu	37	chr11	55927296	55927296	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattagagccacagaaggtCaatgtaaaaatcttaatagt	18	10	7	6	0	2	2	1	0	1	2	2	2	2	2	1	1	1	1	1	1	8	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:55927296C>A	ENST00000313447.1	-	1	497	c.498G>T	c.(496-498)ttG>ttT	p.L166F		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CACAGAAGGTCAATGTAAAAA	0.383													21	55					2.27731e-05	6.15849e-05	1	0	A	55927296	C	A	55927296	3	1	219	1	0	0	0	0	1	0	0	0	11316	825	29	2	428	2	OR8K5	11	55927296	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	347741	55927296	79079220	219	39048											
OR8K5	219453	broad.mit.edu	37	chr11	55927362	55927362	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagatattgaatgcccacCagtacatgacacagtcgctg	13	9	9	10	1	0	3	0	2	0	1	1	4	0	3	2	0	2	2	2	0	4	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:55927362C>G	ENST00000313447.1	-	1	431	c.432G>C	c.(430-432)ctG>ctC	p.L144L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L144L(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAATGCCCACCAGTACATGAC	0.403													32	71					0	0	0	0	G	55927362	C	G	55927362	2	3	219	1	0	0	0	0	0	0	0	1	11316	581	21	4		4	OR8K5	11	55927362	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	66	55927362	79079154	220	39049											
OR8K3	219473	broad.mit.edu	37	chr11	56086244	56086244	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacctctattgcacattCatttctcttctagtcaccat	8	17	2	14	0	5	0	2	0	3	0	6	0	5	0	3	0	2	1	3	0	3	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:56086244C>A	ENST00000312711.1	+	1	462	c.462C>A	c.(460-462)ttC>ttA	p.F154L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATTGCACATTCATTTCTCTTC	0.418													45	64					7.05121e-23	2.50663e-22	1	0	A	56086244	C	A	56086244	3	1	219	1	0	0	0	0	1	0	0	0	11315	825	29	2	464	2	OR8K3	11	56086244	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	158882	56086244	78920272	221	39050											
OR9G4	283189	broad.mit.edu	37	chr11	56511027	56511027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggtatacacagaggtataCcagaaatccaaaaaagacag	19	5	10	7	0	0	3	0	0	0	3	1	3	1	3	2	3	2	2	2	3	8	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:56511027C>A	ENST00000302957.3	-	1	260	c.261G>T	c.(259-261)tgG>tgT	p.W87C		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGAGGTATACCAGAAATCCA	0.433													34	63					6.90743e-12	2.1834e-11	1	0	A	56511027	C	A	56511027	3	1	219	1	0	0	0	0	1	0	0	0	11322	508	18	4	725	4	OR9G4	11	56511027	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	424783	56511027	78495489	222	39051											
ZFP91	80829	broad.mit.edu	37	chr11	58384258	58384258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatctggcagtgcaccGgatgattcacactggcgaga	11	7	11	12	2	2	2	1	1	1	1	2	4	2	3	2	3	1	2	2	3	1	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:58384258G>A	ENST00000316059.6	+	10	1343	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R391Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	391					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCAGTGCACCGGATGATTCAC	0.428													13	47					0	0	0	0	A	58384258	G	A	58384258	3	1	219	1	0	0	0	0	1	0	0	0	17750	1116	39	1	1210	1	ZFP91	11	58384258	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1873231	58384258	76622258	223	39052											
GLYAT	10249	broad.mit.edu	37	chr11	58491896	58491896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttccattatcacctttaagGatgctgggaggctcttcctc	7	15	8	11	0	2	0	1	0	1	0	5	2	4	2	3	3	1	2	3	3	2	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:58491896G>A	ENST00000344743.3	-	2	215	c.74C>T	c.(73-75)tCc>tTc	p.S25F	GLYAT_ENST00000529732.1_Missense_Mutation_p.S25F|GLYAT_ENST00000278400.3_Missense_Mutation_p.S25F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	25					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CACCTTTAAGGATGCTGGGAG	0.428													50	82					0	0	0	0	A	58491896	G	A	58491896	3	1	219	1	0	0	0	0	1	0	0	0	6530	1174	41	2	840	2	GLYAT	11	58491896	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	107638	58491896	76514620	224	39053											
TCN1	6947	broad.mit.edu	37	chr11	59622199	59622199	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccatttagcacagtgacAttggtgaaatatgtttcatt	13	14	8	6	0	1	2	1	2	0	0	1	3	1	2	1	1	2	2	1	1	4	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:59622199A>G	ENST00000257264.3	-	7	1151	c.1047T>C	c.(1045-1047)aaT>aaC	p.N349N	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	349					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCACAGTGACATTGGTGAAAT	0.403													36	59					0	0	0	0	G	59622199	A	G	59622199	2	3	219	1	0	0	0	0	0	0	0	1	15800	214	8	5		5	TCN1	11	59622199	Silent	SNP	A	TCGA-CR-7398-01A-11D-2012-08	1130303	59622199	75384317	225	39054											
MS4A14	84689	broad.mit.edu	37	chr11	60183525	60183525	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccctcaaggcatactaTcccaagacacatcatctcaa	13	8	4	16	0	3	1	3	0	1	1	5	1	4	1	3	1	2	1	3	1	5	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:60183525T>A	ENST00000300187.6	+	5	1361	c.1084T>A	c.(1084-1086)Tcc>Acc	p.S362T	MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.S345T|MS4A14_ENST00000531783.1_Missense_Mutation_p.S395T|MS4A14_ENST00000531787.1_Missense_Mutation_p.S250T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	362						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AGGcatactatcccaagacac	0.448													14	14					0	0	0	0	A	60183525	T	A	60183525	3	1	219	1	0	0	0	0	1	0	0	0	9928	1435	50	5	1102	5	MS4A14	11	60183525	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	561326	60183525	74822991	226	39055											
ASRGL1	80150	broad.mit.edu	37	chr11	62124564	62124564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacagagagaaacaaaaagCgcctggaaaaagagaagcat	21	3	11	6	1	0	4	0	1	0	3	0	7	0	5	1	1	3	1	1	1	6	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:62124564C>T	ENST00000415229.2	+	4	654	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	ASRGL1_ENST00000301776.5_Missense_Mutation_p.R147C|ASRGL1_ENST00000535727.1_Missense_Mutation_p.R19C|ASRGL1_ENST00000528206.1_3'UTR	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	147					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	AAACAAAAAGCGCCTGGAAAA	0.433													17	28					0	0	0	0	T	62124564	C	T	62124564	3	4	219	1	0	0	0	0	1	0	0	0	1064	768	27	1	449	1	ASRGL1	11	62124564	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1941039	62124564	72881952	227	39056											
SF1	7536	broad.mit.edu	37	chr11	64536570	64536570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgttggtaatgctgcGggtctctgagctctgccagg	4	13	16	8	1	2	1	0	1	2	0	3	1	2	1	1	4	4	4	1	4	1	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:64536570G>T	ENST00000377390.3	-	8	1148	c.811C>A	c.(811-813)Cgc>Agc	p.R271S	SF1_ENST00000433274.2_Missense_Mutation_p.R245S|SF1_ENST00000334944.5_Missense_Mutation_p.R271S|SF1_ENST00000422298.2_Missense_Mutation_p.R156S|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.R396S|SF1_ENST00000227503.9_Missense_Mutation_p.R271S|SF1_ENST00000377394.3_Missense_Mutation_p.R271S	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	271					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA 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						GTAATGCTGCGGGTCTCTGAG	0.488													5	212					0.00198382	0.00513308	1	0	T	64536570	G	T	64536570	3	4	219	1	0	0	0	0	1	0	0	0	14232	1116	39	3	1270	3	SF1	11	64536570	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	2412006	64536570	70469946	228	39057											
EFEMP2	30008	broad.mit.edu	37	chr11	65637634	65637634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccagctggaagcccggctCgcactggcagcggaaggagc	8	3	15	15	3	0	0	0	0	0	0	1	3	0	3	3	5	4	4	3	5	2	0	rs148940436		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:65637634C>T	ENST00000307998.6	-	6	795	c.565G>A	c.(565-567)Gag>Aag	p.E189K	EFEMP2_ENST00000528176.1_Missense_Mutation_p.E189K	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	189	EGF-like 3; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		AAGCCCGGCTCGCACTGGCAG	0.667													22	31					0	0	0	0	T	65637634	C	T	65637634	3	4	219	1	0	0	0	0	1	0	0	0	4978	893	31	1	790	1	EFEMP2	11	65637634	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1101064	65637634	69368882	229	39058											
RBM4	5936	broad.mit.edu	37	chr11	66407340	66407340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagctgaggatgccatacGcaacctgcaccattacaagc	12	6	10	13	1	0	1	0	1	0	0	0	2	0	2	3	2	7	4	3	2	4	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:66407340G>A	ENST00000409406.1	+	1	935	c.158G>A	c.(157-159)cGc>cAc	p.R53H	RBM4_ENST00000532968.1_Missense_Mutation_p.R53H|RBM4_ENST00000503028.2_Missense_Mutation_p.R53H|RBM4_ENST00000530235.1_Missense_Mutation_p.R53H|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000506523.2_Missense_Mutation_p.R53H|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000396053.4_Missense_Mutation_p.R53H|RBM4_ENST00000483858.1_Missense_Mutation_p.R53H|RBM4_ENST00000310092.7_Missense_Mutation_p.R53H|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000408993.2_Missense_Mutation_p.R53H|RBM4_ENST00000398692.4_Missense_Mutation_p.R53H|RBM4_ENST00000578778.1_Missense_Mutation_p.R53H					RNA binding motif protein 4									p.R53H(1)		endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GATGCCATACGCAACCTGCAC	0.468													58	116					0	0	0	0	A	66407340	G	A	66407340	3	1	219	1	0	0	0	0	1	0	0	0	13216	1087	38	1	160	1	RBM4	11	66407340	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	769706	66407340	68599176	230	39059											
ANO1	55107	broad.mit.edu	37	chr11	70033950	70033950	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcatggtggagctgtTcatgcgggaggagcaagaca	9	8	17	7	1	2	1	2	0	0	1	2	4	2	4	0	5	4	4	0	5	1	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:70033950T>A	ENST00000355303.5	+	26	3106	c.2801T>A	c.(2800-2802)tTc>tAc	p.F934Y	ANO1_ENST00000398543.2_Missense_Mutation_p.F788Y|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000538023.1_Missense_Mutation_p.F934Y|ANO1_ENST00000530676.1_Missense_Mutation_p.F788Y|ANO1_ENST00000531349.1_Missense_Mutation_p.F643Y|ANO1-AS1_ENST00000524987.1_RNA	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	934					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GTGGAGCTGTTCATGCGGGAG	0.577													6	4					0	0	0	0	A	70033950	T	A	70033950	3	1	219	1	0	0	0	0	1	0	0	0	694	1783	62	5	2903	5	ANO1	11	70033950	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	3626610	70033950	64972566	231	39060											
MYO7A	4647	broad.mit.edu	37	chr11	76870542	76870542	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggttctcttctccccatcGctggccacagctgcatccct	5	11	8	17	1	2	0	0	0	2	0	6	1	3	0	4	2	2	4	4	2	0	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:76870542G>C	ENST00000409709.3	+	10	1325	c.1053G>C	c.(1051-1053)tcG>tcC	p.S351S	MYO7A_ENST00000458637.2_Silent_p.S351S|MYO7A_ENST00000409893.1_Silent_p.S351S|MYO7A_ENST00000409619.2_Silent_p.S340S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	351	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCTCCCCATCGCTGGCCACAG	0.587													33	42					0	0	0	0	C	76870542	G	C	76870542	2	2	219	1	0	0	0	0	0	0	0	1	10152	1074	38	3		3	MYO7A	11	76870542	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	6836592	76870542	58135974	232	39061											
SLC36A4	120103	broad.mit.edu	37	chr11	92895879	92895879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatacacctaccatacatCttggggaagatttaaagtta	15	12	6	8	0	1	1	0	0	1	1	1	2	1	2	2	2	3	1	2	2	8	8	rs76610702	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:92895879C>A	ENST00000326402.4	-	9	1160	c.1030G>T	c.(1030-1032)Gat>Tat	p.D344Y	SLC36A4_ENST00000529184.1_Missense_Mutation_p.D209Y	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	344					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TACCATACATCTTGGGGAAGA	0.303													21	23					2.4624e-09	7.46823e-09	1	0	A	92895879	C	A	92895879	3	1	219	1	0	0	0	0	1	0	0	0	14684	913	32	2	496	2	SLC36A4	11	92895879	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	16025337	92895879	42110637	233	39062											
KIAA1377	57562	broad.mit.edu	37	chr11	101832914	101832914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtactagataaaaaatGtgaaaagacctctgaaacta	18	11	7	5	0	1	4	0	2	1	2	1	4	1	4	1	0	2	2	1	0	9	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:101832914G>T	ENST00000263468.8	+	6	1418	c.1148G>T	c.(1147-1149)tGt>tTt	p.C383F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.C184F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	383							protein binding	p.C383S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GATAAAAAATGTGAAAAGACC	0.398													15	29					0.000308642	0.000809088	1	0	T	101832914	G	T	101832914	3	4	219	1	0	0	0	0	1	0	0	0	8278	1377	48	4	1170	4	KIAA1377	11	101832914	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	8937035	101832914	33173602	234	39063											
GRIA4	2893	broad.mit.edu	37	chr11	105795455	105795455	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacagcctctggttttccCtgggtgcttttatgcagcaa	7	15	9	10	0	1	0	0	0	1	0	2	0	2	0	2	2	5	4	2	2	3	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:105795455C>T	ENST00000393127.2	+	12	2253	c.1807C>T	c.(1807-1809)Ctg>Ttg	p.L603L	GRIA4_ENST00000530497.1_Silent_p.L603L|GRIA4_ENST00000525187.1_Silent_p.L603L|GRIA4_ENST00000282499.5_Silent_p.L603L	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	603					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CTGGTTTTCCCTGGGTGCTTT	0.463													25	29					0	0	0	0	T	105795455	C	T	105795455	2	4	219	1	0	0	0	0	0	0	0	1	6820	680	24	4		4	GRIA4	11	105795455	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	3962541	105795455	29211061	235	39064											
ZW10	9183	broad.mit.edu	37	chr11	113614600	113614600	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcttcacagactcactgaTacggcatgtgggcaaggaaa	12	10	10	9	1	3	2	2	1	1	1	3	3	3	3	0	3	1	2	0	3	3	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:113614600T>C	ENST00000200135.3	-	10	1579	c.1435A>G	c.(1435-1437)Atc>Gtc	p.I479V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	479					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GACTCACTGATACGGCATGTG	0.413													30	56					0	0	0	0	C	113614600	T	C	113614600	3	2	219	1	0	0	0	0	1	0	0	0	18338	1406	49	5	932	5	ZW10	11	113614600	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	7819145	113614600	21391916	236	39065											
ZBTB16	7704	broad.mit.edu	37	chr11	114027108	114027108	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcgagctctgcgggaagCggttcctggatagtttgcgg	5	10	18	8	4	1	0	0	0	1	0	2	3	2	2	1	5	5	3	1	5	2	3	rs141621748		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:114027108C>A	ENST00000335953.4	+	3	1698	c.1318C>A	c.(1318-1320)Cgg>Agg	p.R440R	ZBTB16_ENST00000392996.2_Silent_p.R440R	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	440					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CTGCGGGAAGCGGTTCCTGGA	0.552													18	47					0.000958276	0.00249027	1	0	A	114027108	C	A	114027108	2	1	219	1	0	0	0	0	0	0	0	1	17621	759	27	3		3	ZBTB16	11	114027108	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	412508	114027108	20979408	237	39066											
PCSK7	9159	broad.mit.edu	37	chr11	117093951	117093951	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcatcttgtccccaccActgaaggtgactgccagcat	10	8	9	14	1	1	2	0	2	1	0	2	3	2	2	4	1	3	2	4	1	2	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:117093951A>C	ENST00000320934.3	-	9	1758	c.1128T>G	c.(1126-1128)agT>agG	p.S376R	PCSK7_ENST00000540028.1_Missense_Mutation_p.S17R	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	376	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGTCCCCACCACTGAAGGTGA	0.577			T	IGH@	MLCLS								42	57					0	0	0	0	C	117093951	A	C	117093951	3	2	219	1	0	0	0	0	1	0	0	0	11676	156	6	5	1265	5	PCSK7	11	117093951	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	3066843	117093951	17912565	238	39067											
TECTA	7007	broad.mit.edu	37	chr11	121032985	121032985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggctgctacagccacaaGaagttccagctgtgcggctc	9	7	12	13	2	0	1	0	0	0	1	2	2	1	1	2	2	5	5	2	2	3	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:121032985G>T	ENST00000392793.1	+	16	5449	c.5178G>T	c.(5176-5178)aaG>aaT	p.K1726N	TECTA_ENST00000264037.2_Missense_Mutation_p.K1726N			O75443	TECTA_HUMAN	tectorin alpha	1726					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAGCCACAAGAAGTTCCAGC	0.592													21	37					1.00905e-13	3.25832e-13	1	0	T	121032985	G	T	121032985	3	4	219	1	0	0	0	0	1	0	0	0	15841	933	33	2	5236	2	TECTA	11	121032985	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	3939034	121032985	13973531	239	39068											
OR8B12	219858	broad.mit.edu	37	chr11	124413188	124413188	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttacagatggccacgtaGcggtcatacgccatcgctga	9	8	13	11	4	1	2	1	1	0	1	2	2	1	2	2	3	3	3	2	3	3	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:124413188G>C	ENST00000306842.2	-	1	387	c.363C>G	c.(361-363)cgC>cgG	p.R121R		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGGCCACGTAGCGGTCATACG	0.507													23	49					0	0	0	0	C	124413188	G	C	124413188	2	2	219	1	0	0	0	0	0	0	0	1	11297	958	34	4		4	OR8B12	11	124413188	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	3380203	124413188	10593328	240	39069											
KIRREL3	84623	broad.mit.edu	37	chr11	126343309	126343309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggttgagagggtccccCgcacgcaggctgatcacagg	8	6	16	11	2	1	3	1	3	0	1	2	4	2	3	2	4	0	4	2	4	0	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:126343309C>T	ENST00000525144.2	-	5	735	c.486G>A	c.(484-486)gcG>gcA	p.A162A	KIRREL3_ENST00000529097.2_Silent_p.A162A|KIRREL3_ENST00000525704.2_Silent_p.A162A	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	162	Ig-like C2-type 2.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.A162A(2)|p.A121A(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GAGGGTCCCCCGCACGCAGGC	0.647													6	7					0	0	0	0	T	126343309	C	T	126343309	2	4	219	1	0	0	0	0	0	0	0	1	8378	639	23	1		1	KIRREL3	11	126343309	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1930121	126343309	8663207	241	39070											
ETS1	2113	broad.mit.edu	37	chr11	128360449	128360449	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgcttggagttaatagTgggacatctgcacattccat	9	14	10	8	0	1	0	0	0	1	0	2	2	2	2	1	2	3	4	1	2	2	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:128360449T>A	ENST00000392668.3	-	4	305	c.237A>T	c.(235-237)ccA>ccT	p.P79P	ETS1_ENST00000319397.5_Silent_p.P35P|ETS1_ENST00000345075.4_Silent_p.P35P|ETS1_ENST00000526145.1_Silent_p.P35P|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000531611.1_Silent_p.P35P	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	35	PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GAGTTAATAGTGGGACATCTG	0.358													15	17					0	0	0	0	A	128360449	T	A	128360449	2	1	219	1	0	0	0	0	0	0	0	1	5313	1683	59	5		5	ETS1	11	128360449	Silent	SNP	T	TCGA-CR-7398-01A-11D-2012-08	2017140	128360449	6646067	242	39071											
FLI1	2313	broad.mit.edu	37	chr11	128628193	128628193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgagggtcaacgtcaagCgggagtatgaccacatgaat	13	7	13	8	2	2	3	2	3	0	0	2	4	2	4	1	2	2	1	1	2	4	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:128628193C>T	ENST00000344954.6	+	2	491	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	FLI1_ENST00000525560.1_5'UTR|FLI1_ENST00000527767.2_3'UTR|FLI1_ENST00000534087.1_Missense_Mutation_p.R35W|FLI1_ENST00000429175.2_Missense_Mutation_p.R68W			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	68					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R68W(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CAACGTCAAGCGGGAGTATGA	0.587			T	EWSR1	Ewing sarcoma								8	17					0	0	0	0	T	128628193	C	T	128628193	3	4	219	1	0	0	0	0	1	0	0	0	5969	759	27	1	208	1	FLI1	11	128628193	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	267744	128628193	6378323	243	39072											
PARP11	57097	broad.mit.edu	37	chr12	3939117	3939117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccactgggtatctgacGtgtccatgtcatccacttca	8	11	8	14	1	3	1	2	1	1	0	5	1	5	1	4	1	1	1	4	1	1	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:3939117G>T	ENST00000228820.4	-	2	230	c.86C>A	c.(85-87)aCg>aAg	p.T29K	PARP11_ENST00000397096.2_Missense_Mutation_p.T22K|PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000447133.3_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	22	WWE.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GGTATCTGACGTGTCCATGTC	0.413													54	93					3.07002e-29	1.14576e-28	1	0	T	3939117	G	T	3939117	3	4	219	1	0	0	0	0	1	0	0	0	11527	1145	40	3	958	3	PARP11	12	3939117	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08		3939117	129912778	244	39073											
NTF3	4908	broad.mit.edu	37	chr12	5604005	5604005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacggttgcaggggtattGatgataaacactggaactct	14	10	11	6	1	1	2	0	2	1	0	1	3	1	3	0	4	4	3	0	4	6	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:5604005G>T	ENST00000423158.3	+	2	876	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.D209Y	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	209					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CAGGGGTATTGATGATAAACA	0.488													99	46					2.31008e-40	9.01459e-40	1	0	T	5604005	G	T	5604005	3	4	219	1	0	0	0	0	1	0	0	0	10767	1290	45	2	670	2	NTF3	12	5604005	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1664888	5604005	128247890	245	39074											
TAS2R13	50838	broad.mit.edu	37	chr12	11061579	11061579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcgctattttgagcaaatAaaagatgctgaagattgtag	15	12	9	5	1	0	4	0	2	0	2	1	4	0	4	0	0	2	4	0	0	6	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:11061579A>G	ENST00000390677.2	-	1	582	c.319T>C	c.(319-321)Tat>Cat	p.Y107H	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	107					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TTGAGCAAATAAAAGATGCTG	0.368													77	33					0	0	0	0	G	11061579	A	G	11061579	3	3	219	1	0	0	0	0	1	0	0	0	15658	362	13	5	596	5	TAS2R13	12	11061579	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	5457574	11061579	122790316	246	39075											
KIAA1467	57613	broad.mit.edu	37	chr12	13224192	13224192	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgatggttgtggatggTgactctggctccattgtttg	6	16	14	5	0	1	3	0	2	1	1	2	4	2	4	1	4	0	3	1	4	1	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:13224192T>A	ENST00000197268.8	+	10	1506	c.1386T>A	c.(1384-1386)ggT>ggA	p.G462G		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	462						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)		TTGTGGATGGTGACTCTGGCT	0.478													90	247					0	0	0	0	A	13224192	T	A	13224192	2	1	219	1	0	0	0	0	0	0	0	1	8286	1683	59	5		5	KIAA1467	12	13224192	Silent	SNP	T	TCGA-CR-7398-01A-11D-2012-08	2162613	13224192	120627703	247	39076											
ART4	420	broad.mit.edu	37	chr12	14996007	14996007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggaggtacagtagttGggagaagaatcttcttgcat	11	12	13	5	0	2	2	0	0	2	2	2	4	2	3	0	3	3	5	0	3	4	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:14996007G>T	ENST00000228936.4	-	1	422	c.41C>A	c.(40-42)cCa>cAa	p.P14Q	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	14					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						TACAGTAGTTGGGAGAAGAAT	0.507													74	51					2.10938e-32	7.99695e-32	1	0	T	14996007	G	T	14996007	3	4	219	1	0	0	0	0	1	0	0	0	1003	1348	47	4	915	4	ART4	12	14996007	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1771815	14996007	118855888	248	39077											
PIK3C2G	5288	broad.mit.edu	37	chr12	18658284	18658284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtggtaacattcatcctggGagtatgtgaccgtcacaatg	10	12	11	8	1	2	1	2	1	0	0	3	2	3	2	2	2	1	2	2	2	3	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:18658284G>T	ENST00000433979.1	+	23	3205	c.3089G>T	c.(3088-3090)gGa>gTa	p.G1030V	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G1030V|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G1071V	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1030	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTCATCCTGGGAGTATGTGAC	0.383													22	16					4.35082e-09	1.30634e-08	1	0	T	18658284	G	T	18658284	3	4	219	1	0	0	0	0	1	0	0	0	11983	1174	41	2	3175	2	PIK3C2G	12	18658284	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	3662277	18658284	115193611	249	39078											
ITPR2	3709	broad.mit.edu	37	chr12	26580957	26580957	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggcttggagaagaaaaaCagcatagatgtgcagatcgc	16	6	12	7	1	0	4	0	0	0	4	1	5	0	4	0	2	3	3	0	2	4	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:26580957C>A	ENST00000381340.3	-	49	7250	c.6834G>T	c.(6832-6834)ctG>ctT	p.L2278L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2278					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGAAGAAAAACAGCATAGATG	0.383													18	66					4.35082e-09	1.30634e-08	1	0	A	26580957	C	A	26580957	2	1	219	1	0	0	0	0	0	0	0	1	7974	465	17	4		4	ITPR2	12	26580957	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	7922673	26580957	107270938	250	39079											
ZNF641	121274	broad.mit.edu	37	chr12	48738456	48738456	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattgttcttctcctcctTctagttgagaaagcatgtcc	7	15	6	13	0	3	1	0	1	3	1	6	2	5	1	4	0	1	3	4	0	2	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:48738456T>C	ENST00000544117.2	-	5	1196	c.488A>G	c.(487-489)gAa>gGa	p.E163G	ZNF641_ENST00000547026.1_Missense_Mutation_p.E149G|ZNF641_ENST00000448928.3_Missense_Mutation_p.E140G|ZNF641_ENST00000301042.3_Missense_Mutation_p.E163G			Q96N77	ZN641_HUMAN	zinc finger protein 641	163	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TTCTCCTCCTTCTAGTTGAGA	0.438													68	13					0	0	0	0	C	48738456	T	C	48738456	3	2	219	1	0	0	0	0	1	0	0	0	18152	1783	62	5	836	5	ZNF641	12	48738456	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	22157499	48738456	85113439	251	39080											
ESPL1	9700	broad.mit.edu	37	chr12	53683319	53683319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcagggctttggaatctgGccacttcccccagcctgaaa	8	10	9	14	0	2	1	1	1	1	0	3	2	3	2	4	3	1	1	4	3	2	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:53683319G>T	ENST00000257934.4	+	22	5145	c.5054G>T	c.(5053-5055)gGc>gTc	p.G1685V	ESPL1_ENST00000552462.1_Missense_Mutation_p.G1685V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1685					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TTGGAATCTGGCCACTTCCCC	0.612													51	14					5.57489e-27	2.04869e-26	1	0	T	53683319	G	T	53683319	3	4	219	1	0	0	0	0	1	0	0	0	5291	1203	42	4	5136	4	ESPL1	12	53683319	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	4944863	53683319	80168576	252	39081											
SLC16A7	9194	broad.mit.edu	37	chr12	60168919	60168919	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggaattgatgagtactcGgcagcttttctgctatctgt	9	14	10	8	1	2	2	0	2	2	0	3	3	2	3	0	2	3	4	0	2	4	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:60168919G>T	ENST00000261187.4	+	4	1007	c.843G>T	c.(841-843)tcG>tcT	p.S281S	SLC16A7_ENST00000547379.1_Silent_p.S281S|SLC16A7_ENST00000543448.1_Silent_p.S182S|SLC16A7_ENST00000552432.1_Silent_p.S281S|SLC16A7_ENST00000552024.1_Silent_p.S281S	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	281						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ATGAGTACTCGGCAGCTTTTC	0.383													78	16					9.63364e-24	3.45542e-23	1	0	T	60168919	G	T	60168919	2	4	219	1	0	0	0	0	0	0	0	1	14501	1103	39	3		3	SLC16A7	12	60168919	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	6485600	60168919	73682976	253	39082											
SRGAP1	57522	broad.mit.edu	37	chr12	64472740	64472740	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accttgcagacgatacaagaTatggtcaccatcgaggacta	14	8	9	10	2	1	2	1	0	0	2	2	5	1	3	2	2	2	1	2	2	4	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:64472740T>C	ENST00000355086.3	+	9	1691	c.1167T>C	c.(1165-1167)gaT>gaC	p.D389D	SRGAP1_ENST00000357825.3_Silent_p.D389D|SRGAP1_ENST00000543397.1_Silent_p.D349D|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	389					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CGATACAAGATATGGTCACCA	0.423													39	12					0	0	0	0	C	64472740	T	C	64472740	2	2	219	1	0	0	0	0	0	0	0	1	15235	1403	49	5		5	SRGAP1	12	64472740	Silent	SNP	T	TCGA-CR-7398-01A-11D-2012-08	4303821	64472740	69379155	254	39083											
TMTC3	160418	broad.mit.edu	37	chr12	88588735	88588735	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggatgacaaaaaggacaAtgaagcagagatttggatga	18	7	12	4	0	0	4	0	3	0	1	0	8	0	7	0	3	1	1	0	3	4	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:88588735A>T	ENST00000266712.6	+	14	2274	c.2054A>T	c.(2053-2055)aAt>aTt	p.N685I		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	686						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAAAAGGACAATGAAGCAGAG	0.398													35	13					0	0	0	0	T	88588735	A	T	88588735	3	4	219	1	0	0	0	0	1	0	0	0	16356	101	4	5	2104	5	TMTC3	12	88588735	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	24115995	88588735	45263160	255	39084											
MTUS2	23281	broad.mit.edu	37	chr13	29898764	29898764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacaggaacaaagaaagatGctcagaaagatcaagatacg	21	4	9	7	1	2	5	2	0	0	5	2	6	2	6	0	1	3	1	0	1	6	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:29898764G>T	ENST00000431530.3	+	5	2909	c.2851G>T	c.(2851-2853)Gct>Tct	p.A951S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	941	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.A951T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAAGAAAGATGCTCAGAAAGA	0.378													6	0					2.0095e-06	5.57263e-06	1	0	T	29898764	G	T	29898764	3	4	219	1	0	0	0	0	1	0	0	0	10036	1319	46	4	2869	4	MTUS2	13	29898764	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08		29898764	85271114	256	39085											
RB1	5925	broad.mit.edu	37	chr13	48881512	48881512	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagagagcttggttaacttgGgagaaagtttcatctgtgga	11	12	14	4	0	2	2	1	0	1	2	2	6	2	3	0	3	2	3	0	3	2	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:48881512G>A	ENST00000267163.4	+	2	372	c.234G>A	c.(232-234)tgG>tgA	p.W78*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	78					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.W78*(3)|p.?(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTTAACTTGGGAGAAAGTTT	0.323		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			50	15					0	0	0	0	A	48881512	G	A	48881512	4	1	219	1	0	0	0	0	0	1	0	0	13180	1241	43	4	240	4	RB1	13	48881512	Nonsense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	18982748	48881512	66288366	257	39086											
CAB39L	81617	broad.mit.edu	37	chr13	49957001	49957001	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggattttcacaatttCtgctggatttttgtgtgatt	7	21	8	5	0	3	1	2	1	1	0	3	3	3	3	0	2	1	1	0	2	1	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:49957001C>A	ENST00000355854.4	-	2	543	c.46G>T	c.(46-48)Gaa>Taa	p.E16*	CAB39L_ENST00000410043.1_Nonsense_Mutation_p.E16*|CAB39L_ENST00000347776.5_Nonsense_Mutation_p.E16*|CAB39L_ENST00000476943.1_5'UTR|CAB39L_ENST00000409308.1_Nonsense_Mutation_p.E16*	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	16					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	p.E16*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TTCACAATTTCTGCTGGATTT	0.308													60	21					6.20203e-27	2.27218e-26	1	0	A	49957001	C	A	49957001	4	1	219	1	0	0	0	0	0	1	0	0	2551	922	32	2	999	2	CAB39L	13	49957001	Nonsense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1075489	49957001	65212877	258	39087											
ATP7B	540	broad.mit.edu	37	chr13	52542619	52542619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggagcctgcgtagtcctcCatgactgctgcctcaaaacc	8	9	9	15	2	1	1	1	1	0	0	4	2	3	2	5	1	5	2	5	1	3	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:52542619C>T	ENST00000242839.4	-	4	1824	c.1668G>A	c.(1666-1668)atG>atA	p.M556I	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.M556I|ATP7B_ENST00000418097.2_Missense_Mutation_p.M556I|ATP7B_ENST00000448424.2_Missense_Mutation_p.M556I|ATP7B_ENST00000400366.3_Missense_Mutation_p.M445I|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	556					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.M556N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CGTAGTCCTCCATGACTGCTG	0.522									Wilson disease				29	6					0	0	0	0	T	52542619	C	T	52542619	3	4	219	1	0	0	0	0	1	0	0	0	1195	594	21	4	2801	4	ATP7B	13	52542619	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	2585618	52542619	62627259	259	39088											
KLHL1	57626	broad.mit.edu	37	chr13	70281880	70281880	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccaacagcatctctgggCatactcaaaggagccaccat	13	6	7	15	0	2	0	1	0	1	0	3	1	2	1	4	2	4	2	4	2	3	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:70281880C>A	ENST00000377844.4	-	10	2823	c.2064G>T	c.(2062-2064)atG>atT	p.M688I	KLHL1_ENST00000545028.1_Missense_Mutation_p.M495I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	688					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CATCTCTGGGCATACTCAAAG	0.408													29	6					3.57733e-08	1.0402e-07	1	0	A	70281880	C	A	70281880	3	1	219	1	0	0	0	0	1	0	0	0	8417	710	25	4	190	4	KLHL1	13	70281880	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	17739261	70281880	44887998	260	39089											
DOCK9	23348	broad.mit.edu	37	chr13	99540717	99540717	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttttggtatgcagggcAcaaattcctccacttcaaac	10	13	8	10	0	1	0	1	0	0	0	3	0	3	0	2	2	2	4	2	2	3	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:99540717A>T	ENST00000376460.1	-	17	1954	c.1874T>A	c.(1873-1875)gTg>gAg	p.V625E	DOCK9_ENST00000448493.2_Missense_Mutation_p.V637E|DOCK9_ENST00000339416.2_Missense_Mutation_p.V626E|DOCK9_ENST00000442173.1_Missense_Mutation_p.V625E	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	626					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TATGCAGGGCACAAATTCCTC	0.383													107	37					0	0	0	0	T	99540717	A	T	99540717	3	4	219	1	0	0	0	0	1	0	0	0	4730	159	6	5	4553	5	DOCK9	13	99540717	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	29258837	99540717	15629161	261	39090											
NALCN	259232	broad.mit.edu	37	chr13	102047697	102047697	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgatgatggcacagatgCgcagcaaagagtgaacccac	13	5	12	11	2	0	5	0	3	0	2	0	5	0	5	1	1	3	4	1	1	2	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:102047697C>A	ENST00000251127.6	-	3	209	c.128G>T	c.(127-129)cGc>cTc	p.R43L	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R43L|NALCN_ENST00000376200.5_Missense_Mutation_p.R43L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	43						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACAGATGCGCAGCAAAGA	0.433													39	11					2.35958e-20	8.16989e-20	1	0	A	102047697	C	A	102047697	3	1	219	1	0	0	0	0	1	0	0	0	10218	768	27	3	5256	3	NALCN	13	102047697	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	2506980	102047697	13122181	262	39091											
OR4K5	79317	broad.mit.edu	37	chr14	20389063	20389063	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagtggctgcatagccCaaattttctttattcacctt	8	17	5	11	0	3	0	2	0	1	0	3	0	3	0	2	1	2	2	2	1	3	8			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:20389063C>T	ENST00000315915.4	+	1	323	c.298C>T	c.(298-300)Caa>Taa	p.Q100*		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCATAGCCCAAATTTTCTT	0.413													76	44					0	0	0	0	T	20389063	C	T	20389063	4	4	219	1	0	0	0	0	0	1	0	0	11144	595	21	4	300	4	OR4K5	14	20389063	Nonsense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08		20389063	86960477	263	39092											
LTB4R	1241	broad.mit.edu	37	chr14	24785367	24785367	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgagcctgtgcttcccGcggtaccccagcgaagggca	9	6	12	14	3	0	1	0	1	0	0	1	2	1	1	4	2	5	3	4	2	3	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:24785367G>T	ENST00000396789.4	+	2	2235	c.510G>T	c.(508-510)ccG>ccT	p.P170P	LTB4R_ENST00000345363.3_Silent_p.P170P|LTB4R_ENST00000396782.2_Silent_p.P170P	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	170					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		TGTGCTTCCCGCGGTACCCCA	0.622													39	25					4.0492e-12	1.28672e-11	1	0	T	24785367	G	T	24785367	2	4	219	1	0	0	0	0	0	0	0	1	9135	1074	38	3		3	LTB4R	14	24785367	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	4396304	24785367	82564173	264	39093											
PRKD1	5587	broad.mit.edu	37	chr14	30046533	30046533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctagcacttggattgatcaGgtgtgtggggtactgcagcc	7	11	15	8	0	1	1	1	1	0	0	1	2	1	2	1	4	4	4	1	4	2	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:30046533G>T	ENST00000331968.5	-	18	2879	c.2650C>A	c.(2650-2652)Ctg>Atg	p.L884M	PRKD1_ENST00000415220.2_Missense_Mutation_p.L892M	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	884					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGATTGATCAGGTGTGTGGGG	0.537													48	19					7.05377e-20	2.42828e-19	1	0	T	30046533	G	T	30046533	3	4	219	1	0	0	0	0	1	0	0	0	12598	991	35	4	92	4	PRKD1	14	30046533	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	5261166	30046533	77303007	265	39094											
RALGAPA1	253959	broad.mit.edu	37	chr14	36217955	36217955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attggaatgagactgttcggGttctgtagttctgtctgttt	6	18	12	5	1	3	1	0	1	3	1	4	3	3	2	0	2	0	5	0	2	2	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:36217955G>T	ENST00000258840.6	-	10	1477	c.1087C>A	c.(1087-1089)Ccc>Acc	p.P363T	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P363T|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P363T|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P363T|RALGAPA1_ENST00000554704.1_5'UTR			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	363					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GACTGTTCGGGTTCTGTAGTT	0.363													13	13					2.23348e-06	6.17948e-06	1	0	T	36217955	G	T	36217955	3	4	219	1	0	0	0	0	1	0	0	0	13095	1261	44	4	5300	4	RALGAPA1	14	36217955	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	6171422	36217955	71131585	266	39095											
MDGA2	161357	broad.mit.edu	37	chr14	47342647	47342647	+	Frame_Shift_Del	DEL	C	C	-																															ctatctcacctatatgttgtCcatacatgtgataaaagaag																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:47342647delC	ENST00000426342.1	-	14	2593	c.1847delG	c.(1846-1848)gafs	p.G616fs	MDGA2_ENST00000399232.2_Frame_Shift_Del_p.G914fs|MDGA2_ENST00000399222.3_Frame_Shift_Del_p.G47fs|MDGA2_ENST00000357362.3_Frame_Shift_Del_p.G616fs|MDGA2_ENST00000439988.2_Frame_Shift_Del_p.G845fs	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	845	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TATATGTTGTCCATACATGTG	0.343													37	21	---	---	---	---					-	47342647	C	-	47342647	7	5	219	1	0	1	0	1	0	0	0	0	9476	855	30	0	352	0	MDGA2	14	47342647	Frame_Shift_Del	DEL	C	TCGA-CR-7398-01A-11D-2012-08	11124692	47342647	60006893	267	39096											
ERO1L	30001	broad.mit.edu	37	chr14	53130549	53130549	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccaaaggatttaaaggtcTtttaattgtctgtggcctag	11	14	10	6	0	2	0	0	0	2	0	2	1	2	1	2	3	1	0	2	3	5	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:53130549T>C	ENST00000395686.3	-	8	869	c.646A>G	c.(646-648)Aga>Gga	p.R216G		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	216					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					TTTAAAGGTCTTTTAATTGTC	0.318													2	14					0	0	0	0	C	53130549	T	C	53130549	3	2	219	1	0	0	0	0	1	0	0	0	5277	1617	56	5	796	5	ERO1L	14	53130549	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	5787902	53130549	54218991	268	39097											
GPHN	10243	broad.mit.edu	37	chr14	67389587	67389587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaggaagaagagaagaaaGacagtggtgttgcttcaaca	18	6	13	4	0	1	5	1	0	0	5	1	7	1	6	0	2	2	2	0	2	6	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:67389587G>C	ENST00000478722.1	+	7	1782	c.661G>C	c.(661-663)Gac>Cac	p.D221H	GPHN_ENST00000543237.1_Missense_Mutation_p.D234H|GPHN_ENST00000459628.1_Missense_Mutation_p.D203H|GPHN_ENST00000315266.5_Missense_Mutation_p.D221H|GPHN_ENST00000305960.9_Missense_Mutation_p.D190H|GPHN_ENST00000544752.2_3'UTR	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	221	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGAGAAGAAAGACAGTGGTGT	0.483			T	MLL	AL								38	28					0	0	0	0	C	67389587	G	C	67389587	3	2	219	1	0	0	0	0	1	0	0	0	6659	942	33	2	687	2	GPHN	14	67389587	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	14259038	67389587	39959953	269	39098											
SIPA1L1	26037	broad.mit.edu	37	chr14	72054795	72054795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaccatataacctcaacccCcggagtcccaaaaatggggg	13	6	8	14	1	2	0	2	0	0	0	3	1	3	1	5	3	2	0	5	3	5	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:72054795C>T	ENST00000555818.1	+	2	554	c.206C>T	c.(205-207)cCc>cTc	p.P69L	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P69L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P69L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	69					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCTCAACCCCCGGAGTCCCA	0.507													48	20					0	0	0	0	T	72054795	C	T	72054795	3	4	219	1	0	0	0	0	1	0	0	0	14417	623	22	4	208	4	SIPA1L1	14	72054795	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	4665208	72054795	35294745	270	39099											
ACOT4	122970	broad.mit.edu	37	chr14	74060510	74060510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggctttgccacgttggctCtagcttattataactttgaa	9	16	8	8	1	1	1	0	1	1	0	1	1	1	1	1	2	3	4	1	2	5	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:74060510C>T	ENST00000326303.4	+	2	816	c.562C>T	c.(562-564)Cta>Tta	p.L188L		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	188				ALAY -> DLQS (in Ref. 1; BAC04313).	acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CACGTTGGCTCTAGCTTATTA	0.493													49	16					0	0	0	0	T	74060510	C	T	74060510	2	4	219	1	0	0	0	0	0	0	0	1	153	912	32	2		2	ACOT4	14	74060510	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	2005715	74060510	33289030	271	39100											
SERPINA9	327657	broad.mit.edu	37	chr14	94933495	94933495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgttctggctgacaaggCctgttccagttgcctcatct	6	13	10	12	0	3	1	1	1	2	0	4	1	4	1	3	2	1	4	3	2	1	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:94933495C>A	ENST00000337425.5	-	3	981	c.907G>T	c.(907-909)Gcc>Tcc	p.A303S	SERPINA9_ENST00000298845.7_Missense_Mutation_p.A203S|SERPINA9_ENST00000380365.3_Missense_Mutation_p.A285S|SERPINA9_ENST00000448305.2_Missense_Mutation_p.A205S|SERPINA9_ENST00000424550.2_Missense_Mutation_p.A154S|SERPINA9_ENST00000546329.1_Missense_Mutation_p.A267S	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	285					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCTGACAAGGCCTGTTCCAGT	0.537													19	20					8.00594e-06	2.18476e-05	1	0	A	94933495	C	A	94933495	3	1	219	1	0	0	0	0	1	0	0	0	14182	739	26	4	412	4	SERPINA9	14	94933495	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	20872985	94933495	12416045	272	39101											
HHIPL1	84439	broad.mit.edu	37	chr14	100119179	100119179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagagtctccgaggatgacGagaacgccgtggaccacagc	11	5	13	12	4	2	3	1	1	1	2	3	7	2	5	3	2	2	0	3	2	1	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:100119179G>A	ENST00000330710.5	+	2	972	c.874G>A	c.(874-876)Gag>Aag	p.E292K	HHIPL1_ENST00000357223.2_Missense_Mutation_p.E292K	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	292					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGAGGATGACGAGAACGCCGT	0.607													12	9					0	0	0	0	A	100119179	G	A	100119179	3	1	219	1	0	0	0	0	1	0	0	0	7143	1059	37	1	880	1	HHIPL1	14	100119179	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	5185684	100119179	7230361	273	39102											
OR4M2	390538	broad.mit.edu	37	chr15	22368621	22368621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacagaatttgttctcactGgcctatcccagactccagag	10	11	8	12	0	1	4	1	1	1	3	4	4	3	4	3	1	0	1	3	1	2	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:22368621G>T	ENST00000332663.2	+	1	144	c.46G>T	c.(46-48)Ggc>Tgc	p.G16C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTTCTCACTGGCCTATCCCA	0.333													44	135					1.41504e-22	4.98592e-22	1	0	T	22368621	G	T	22368621	3	4	219	1	0	0	0	0	1	0	0	0	11147	1348	47	4	48	4	OR4M2	15	22368621	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08		22368621	80162771	274	39103											
NDN	4692	broad.mit.edu	37	chr15	23931741	23931741	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcacgttccagacggcGctctctctggcgccgcggcc	4	6	13	18	7	2	1	0	0	2	1	4	1	3	1	3	3	1	4	3	3	0	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:23931741G>C	ENST00000331837.4	-	1	709	c.624C>G	c.(622-624)agC>agG	p.S208R		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	208	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCCAGACGGCGCTCTCTCTGG	0.637									Prader-Willi syndrome				19	27					0	0	0	0	C	23931741	G	C	23931741	3	2	219	1	0	0	0	0	1	0	0	0	10317	1078	38	3	345	3	NDN	15	23931741	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1563120	23931741	78599651	275	39104											
BUB1B	701	broad.mit.edu	37	chr15	40494809	40494809	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcctgcagatcccccaCgagttttagctcaacgaaga	10	9	8	14	2	1	2	1	0	0	2	4	4	4	2	4	0	3	3	4	0	3	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:40494809C>T	ENST00000287598.6	+	14	1843	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	BUB1B_ENST00000412359.3_Nonsense_Mutation_p.R564*	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	550			R -> Q (in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989187).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		AGATCCCCCACGAGTTTTAGC	0.398			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				56	89					0	0	0	0	T	40494809	C	T	40494809	4	4	219	1	0	0	0	0	0	1	0	0	1580	528	19	1	1702	1	BUB1B	15	40494809	Nonsense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	16563068	40494809	62036583	276	39105											
SPTBN5	51332	broad.mit.edu	37	chr15	42159161	42159161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggggtgccctctgacctggGttgcggcctgggtgaagctg	3	9	19	10	1	1	2	0	2	1	0	1	2	1	2	3	5	3	2	3	5	1	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:42159161G>A	ENST00000320955.6	-	36	6703	c.6476C>T	c.(6475-6477)aCc>aTc	p.T2159I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2159					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCTGACCTGGGTTGCGGCCTG	0.647													6	4					0	0	0	0	A	42159161	G	A	42159161	3	1	219	1	0	0	0	0	1	0	0	0	15212	1261	44	4	4680	4	SPTBN5	15	42159161	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1664352	42159161	60372231	277	39106											
DUOX2	50506	broad.mit.edu	37	chr15	45402630	45402630	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacccctccctcacctcaTgtagacaccagggggcacca	10	5	7	19	0	2	1	2	0	0	1	3	1	3	1	7	2	1	2	7	2	2	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:45402630T>A	ENST00000389039.6	-	9	1421	c.1036A>T	c.(1036-1038)Atg>Ttg	p.M346L	DUOX2_ENST00000603300.1_Missense_Mutation_p.M346L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	346	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCTCACCTCATGTAGACACCA	0.577													21	21					0	0	0	0	A	45402630	T	A	45402630	3	1	219	1	0	0	0	0	1	0	0	0	4837	1464	51	5	3714	5	DUOX2	15	45402630	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	3243469	45402630	57128762	278	39107											
COPS2	9318	broad.mit.edu	37	chr15	49420932	49420946	+	In_Frame_Del	DEL	ACATCAGCTACATCT	ACATCAGCTACATCT	-																															actgcaccagcaagctctccAcatcagctacatctatgttt																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:49420932_49420946delACATCAGCTACATCT	ENST00000388901.5	-	12	1213_1227	c.1140_1154delAGATGTAGCTGATGT	c.(1138-1155)atg>at	p.IDVADV380del	COPS2_ENST00000542928.1_In_Frame_Del_p.IDVADV316del|COPS2_ENST00000299259.6_In_Frame_Del_p.IDVADV387del	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	380	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CAAGCTCTCCACATCAGCTACATCTATGTTTAACT	0.284													14	125	---	---	---	---					-	49420946	ACATCAGCTACATCT	-	49420932	7	5	219	1	0	1	0	1	0	0	0	0	3763	159	6	0	185	0	COPS2	15	49420932	In_Frame_Del	DEL	ACATCAGCTACATCT	TCGA-CR-7398-01A-11D-2012-08	4018302	49420932	53110460	279	39108											
UNC13C	440279	broad.mit.edu	37	chr15	54586184	54586184	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaagcaacatttcaaaaagGagtcagatgattttctggga	15	11	9	6	0	4	2	3	1	1	1	4	4	4	4	0	2	2	1	0	2	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:54586184G>T	ENST00000545554.1	+	10	3910	c.3910G>T	c.(3910-3912)Gag>Tag	p.E1304*	UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E1304*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E1302*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1304	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTCAAAAAGGAGTCAGATGA	0.358													61	83					4.09106e-26	1.49424e-25	1	0	T	54586184	G	T	54586184	4	4	219	1	0	0	0	0	0	1	0	0	17082	1175	41	2	3944	2	UNC13C	15	54586184	Nonsense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	5165252	54586184	47945208	280	39109											
NEDD4	4734	broad.mit.edu	37	chr15	56130375	56130375	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcagctcatgttgatGtgtctaaaattaaacacaat	14	16	5	6	0	3	1	2	1	1	0	3	1	3	1	0	0	2	2	0	0	5	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:56130375G>C	ENST00000508342.1	-	19	3687	c.3388C>G	c.(3388-3390)Cat>Gat	p.H1130D	NEDD4_ENST00000435532.3_Missense_Mutation_p.H711D|NEDD4_ENST00000338963.2_Missense_Mutation_p.H1058D|NEDD4_ENST00000506154.1_Missense_Mutation_p.H1114D			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1130	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TCATGTTGATGTGTCTAAAAT	0.244													2	9					0	0	0	0	C	56130375	G	C	56130375	3	2	219	1	0	0	0	0	1	0	0	0	10380	1377	48	4	599	4	NEDD4	15	56130375	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1544191	56130375	46401017	281	39110											
KIAA1024	23251	broad.mit.edu	37	chr15	79750339	79750339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatccctgtcgggtgtccGtgatgaaatctcccaggtct	7	11	12	11	2	2	2	0	2	2	0	6	3	4	3	3	3	0	0	3	3	2	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:79750339G>T	ENST00000305428.3	+	2	1925	c.1850G>T	c.(1849-1851)cGt>cTt	p.R617L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	617						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCGGGTGTCCGTGATGAAATC	0.488													32	54					8.88839e-20	3.05109e-19	1	0	T	79750339	G	T	79750339	3	4	219	1	0	0	0	0	1	0	0	0	8256	1145	40	3	1852	3	KIAA1024	15	79750339	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	23619964	79750339	22781053	282	39111											
AKAP13	11214	broad.mit.edu	37	chr15	86123011	86123011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagcagaaacggaaacttCacgaagtcgtgaggagagtg	16	5	13	7	3	1	3	1	1	0	2	2	6	1	4	0	2	4	1	0	2	4	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:86123011C>T	ENST00000394518.2	+	7	1807	c.1712C>T	c.(1711-1713)tCa>tTa	p.S571L	AKAP13_ENST00000361243.2_Missense_Mutation_p.S571L|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	571					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACGGAAACTTCACGAAGTCGT	0.443													50	70					0	0	0	0	T	86123011	C	T	86123011	3	4	219	1	0	0	0	0	1	0	0	0	449	838	29	2	1734	2	AKAP13	15	86123011	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	6372672	86123011	16408381	283	39112											
GRIN2A	2903	broad.mit.edu	37	chr16	9857768	9857768	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcttctgcagtgcgtGgagttctgccggtatcgctc	5	11	14	11	3	2	0	0	0	2	0	4	1	2	1	1	3	4	6	1	3	1	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:9857768G>A	ENST00000396573.2	-	14	3942	c.3633C>T	c.(3631-3633)tcC>tcT	p.S1211S	GRIN2A_ENST00000404927.2_Silent_p.S1211S|GRIN2A_ENST00000535259.1_Silent_p.S1054S|GRIN2A_ENST00000396575.2_Silent_p.S1211S|GRIN2A_ENST00000330684.3_Silent_p.S1211S|GRIN2A_ENST00000562109.1_Silent_p.S1211S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1211					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCAGTGCGTGGAGTTCTGCC	0.552													194	158					0	0	0	0	A	9857768	G	A	9857768	2	1	219	1	0	0	0	0	0	0	0	1	6829	1335	47	4		4	GRIN2A	16	9857768	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08		9857768	80496985	284	39113											
PDILT	204474	broad.mit.edu	37	chr16	20386177	20386177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacgctgtcaagggtgacGtggaaacgcccaatgacatt	12	7	13	9	3	1	2	1	2	0	0	1	4	1	4	1	3	1	1	1	3	3	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:20386177G>C	ENST00000302451.4	-	5	896	c.648C>G	c.(646-648)caC>caG	p.H216Q		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	216					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CAAGGGTGACGTGGAAACGCC	0.438													56	41					0	0	0	0	C	20386177	G	C	20386177	3	2	219	1	0	0	0	0	1	0	0	0	11745	1136	40	3	1138	3	PDILT	16	20386177	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	10528409	20386177	69968576	285	39114											
IGSF6	10261	broad.mit.edu	37	chr16	21654459	21654459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcaatttcctgaaaaataCgccgagcactcttcttctat	12	12	6	11	2	3	1	0	1	3	0	4	3	4	1	2	0	3	2	2	0	5	5	rs146422757		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:21654459C>A	ENST00000268389.4	-	5	663	c.602G>T	c.(601-603)cGt>cTt	p.R201L	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	201					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CTGAAAAATACGCCGAGCACT	0.328													64	55					2.37532e-16	7.99335e-16	1	0	A	21654459	C	A	21654459	3	1	219	1	0	0	0	0	1	0	0	0	7656	536	19	3	131	3	IGSF6	16	21654459	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1268282	21654459	68700294	286	39115											
OTOA	146183	broad.mit.edu	37	chr16	21742247	21742247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattaagctctatagccaCaaaggtaatgttgtgctcca	13	12	8	8	0	1	1	0	1	1	0	2	1	2	1	2	1	3	4	2	1	6	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:21742247C>T	ENST00000388958.3	+	20	2298	c.2297C>T	c.(2296-2298)aCa>aTa	p.T766I	OTOA_ENST00000286149.4_Missense_Mutation_p.T780I|OTOA_ENST00000388956.4_Missense_Mutation_p.T687I|OTOA_ENST00000388957.3_Missense_Mutation_p.T442I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	780					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCTATAGCCACAAAGGTAATG	0.453													24	27					0	0	0	0	T	21742247	C	T	21742247	3	4	219	1	0	0	0	0	1	0	0	0	11373	478	17	4	2421	4	OTOA	16	21742247	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	87788	21742247	68612506	287	39116											
ERN2	10595	broad.mit.edu	37	chr16	23706706	23706706	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcccgtccctcaaactGtcccctggaaagtgggtgat	8	9	10	14	1	1	1	1	1	0	0	3	2	3	2	4	2	2	0	4	2	2	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:23706706G>C	ENST00000256797.4	-	15	1927	c.1759C>G	c.(1759-1761)Cag>Gag	p.Q587E	ERN2_ENST00000457008.2_Missense_Mutation_p.Q487E	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	539	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCTCAAACTGTCCCCTGGAA	0.597													9	6					0	0	0	0	C	23706706	G	C	23706706	3	2	219	1	0	0	0	0	1	0	0	0	5276	1386	48	4	1197	4	ERN2	16	23706706	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1964459	23706706	66648047	288	39117											
AQP8	343	broad.mit.edu	37	chr16	25238439	25238439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccgtgcttttggacctgCggtggtggccaaccactgga	5	9	14	13	3	0	0	0	0	0	0	0	2	0	2	4	5	3	1	4	5	1	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:25238439C>T	ENST00000219660.5	+	5	778	c.653C>T	c.(652-654)gCg>gTg	p.A218V	AQP8_ENST00000566125.1_Missense_Mutation_p.A212V	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	218					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TTTGGACCTGCGGTGGTGGCC	0.607													32	84					0	0	0	0	T	25238439	C	T	25238439	3	4	219	1	0	0	0	0	1	0	0	0	834	768	27	1	671	1	AQP8	16	25238439	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1531733	25238439	65116314	289	39118											
PRRT2	112476	broad.mit.edu	37	chr16	29825272	29825272	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgagccccatgggaccCtagcccaggcctgctgtggc	6	7	14	14	0	0	1	0	1	0	0	0	2	0	2	5	4	3	1	5	4	1	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:29825272C>G	ENST00000300797.6	+	2	1071	c.897C>G	c.(895-897)ccC>ccG	p.P299P	AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_Intron|PRRT2_ENST00000567659.1_Intron			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	0					response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						CCATGGGACCCTAGCCCAGGC	0.597													20	72					0	0	0	0	G	29825272	C	G	29825272	2	3	219	1	0	0	0	0	0	0	0	1	12689	696	24	4		4	PRRT2	16	29825272	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	4586833	29825272	60529481	290	39119											
ZNF764	92595	broad.mit.edu	37	chr16	30566697	30566697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctggccaaagcggcggcCgcactgcgggcaggggtagg	6	5	18	12	4	1	0	0	0	1	0	1	0	1	0	2	7	2	3	2	7	2	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:30566697C>T	ENST00000395091.2	-	3	1357	c.1042G>A	c.(1042-1044)Ggc>Agc	p.G348S	ZNF764_ENST00000252797.2_Missense_Mutation_p.G349S|AC002310.13_ENST00000568114.1_Intron			Q96H86	ZN764_HUMAN	zinc finger protein 764	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						AAGCGGCGGCCGCACTGCGGG	0.736													7	13					0	0	0	0	T	30566697	C	T	30566697	3	4	219	1	0	0	0	0	1	0	0	0	18232	652	23	1	185	1	ZNF764	16	30566697	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	741425	30566697	59788056	291	39120											
SRCAP	10847	broad.mit.edu	37	chr16	30749357	30749357	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catctgatgagccacttcagGagccactggaggctgacagg	10	7	13	11	0	2	3	1	3	1	0	2	5	2	5	2	4	2	1	2	4	0	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:30749357G>T	ENST00000262518.4	+	34	8381	c.7996G>T	c.(7996-7998)Gag>Tag	p.E2666*	SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2508*|SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2604*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2666	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCACTTCAGGAGCCACTGGA	0.592													34	70					5.91797e-21	2.07302e-20	1	0	T	30749357	G	T	30749357	4	4	219	1	0	0	0	0	0	1	0	0	15225	1175	41	2	8122	2	SRCAP	16	30749357	Nonsense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	182660	30749357	59605396	292	39121											
KARS	3735	broad.mit.edu	37	chr16	75675607	75675607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttctcagctttcaggCgtctcttcagctcactgttg	4	17	7	13	1	6	0	4	0	3	0	8	0	6	0	0	1	2	3	0	1	0	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:75675607C>A	ENST00000319410.5	-	3	282	c.161G>T	c.(160-162)cGc>cTc	p.R54L	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.R26L	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	26					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	AGCTTTCAGGCGTCTCTTCAG	0.478													30	26					7.01153e-11	2.17612e-10	1	0	A	75675607	C	A	75675607	3	1	219	1	0	0	0	0	1	0	0	0	8033	768	27	3	1768	3	KARS	16	75675607	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	44926250	75675607	14679146	293	39122											
ATMIN	23300	broad.mit.edu	37	chr16	81069786	81069786	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccgcgctcaacatgcAcctagtcaagagccaccgcc	10	4	8	19	3	2	1	2	0	0	1	2	1	2	1	6	0	4	2	6	0	3	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:81069786A>T	ENST00000299575.4	+	1	335	c.311A>T	c.(310-312)cAc>cTc	p.H104L		NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	104					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTCAACATGCACCTAGTCAAG	0.741													12	4					0	0	0	0	T	81069786	A	T	81069786	3	4	219	1	0	0	0	0	1	0	0	0	1114	159	6	5	313	5	ATMIN	16	81069786	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	5394179	81069786	9284967	294	39123											
USP10	9100	broad.mit.edu	37	chr16	84793532	84793532	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagttcactaatatgccagTacctccaaaaccccgacaag	14	8	6	13	1	1	1	1	1	0	0	2	2	2	1	5	0	3	2	5	0	6	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:84793532T>G	ENST00000219473.7	+	7	1543	c.1430T>G	c.(1429-1431)gTa>gGa	p.V477G	USP10_ENST00000570191.1_Missense_Mutation_p.V481G	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	477					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AATATGCCAGTACCTCCAAAA	0.328													27	18					0	0	0	0	G	84793532	T	G	84793532	3	3	219	1	0	0	0	0	1	0	0	0	17137	1638	57	5	1456	5	USP10	16	84793532	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	3723746	84793532	5561221	295	39124											
PITPNM3	83394	broad.mit.edu	37	chr17	6377866	6377866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggctgacctcagggaGctgcggccccccagccgccg	5	3	14	19	3	1	1	1	1	0	0	1	2	1	2	7	3	3	2	7	3	0	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:6377866G>T	ENST00000262483.8	-	10	1231	c.1144C>A	c.(1144-1146)Ctc>Atc	p.L382I	ACKR6_ENST00000421306.3_Missense_Mutation_p.L346I	NM_031220.3	NP_112497.2																					ACCTCAGGGAGCTGCGGCCCC	0.667													9	3					0.000274275	0.000722157	1	0	T	6377866	G	T	6377866	3	4	219	1	0	0	0	0	1	0	0	0	12024	971	34	4	1824	4	PITPNM3	17	6377866	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08		6377866	74817344	296	39125											
TP53	7157	broad.mit.edu	37	chr17	7574017	7574017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctcggaacatctcgaagCgctcacgcccacggatctgc	8	7	10	16	5	4	0	1	0	3	0	6	3	4	2	1	2	3	2	1	2	2	0	rs121912664		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:7574017C>A	ENST00000269305.4	-	10	1199	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATCTCGAAGCGCTCACGCCC	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	11					1.9806e-07	5.64942e-07	1	0	A	7574017	C	A	7574017	3	1	219	1	0	0	0	0	1	0	0	0	16476	768	27	3	179	3	TP53	17	7574017	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1196151	7574017	73621193	297	39126											
PER1	5187	broad.mit.edu	37	chr17	8044497	8044497	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagccttggccccgccttgGgcctcctcgcagccctctcc	3	8	10	20	2	1	0	0	0	1	0	4	1	2	0	8	2	2	1	8	2	1	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:8044497G>A	ENST00000317276.4	-	23	3999	c.3762C>T	c.(3760-3762)gcC>gcT	p.A1254A	PER1_ENST00000581082.1_Silent_p.A1231A	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1254	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCCGCCTTGGGCCTCCTCGC	0.637			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					118	56					0	0	0	0	A	8044497	G	A	8044497	2	1	219	1	0	0	0	0	0	0	0	1	11800	1219	43	4		4	PER1	17	8044497	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	470480	8044497	73150713	298	39127											
PFAS	5198	broad.mit.edu	37	chr17	8168408	8168408	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgtggccgaagccctcAccaacctggtgtttgctctg	5	10	12	14	2	2	0	1	0	1	0	2	1	2	0	5	3	3	2	5	3	2	1	rs146379979		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:8168408A>T	ENST00000314666.6	+	18	2378	c.2245A>T	c.(2245-2247)Acc>Tcc	p.T749S	PFAS_ENST00000545834.1_Missense_Mutation_p.T325S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	749					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGAAGCCCTCACCAACCTGGT	0.622													16	5					0	0	0	0	T	8168408	A	T	8168408	3	4	219	1	0	0	0	0	1	0	0	0	11826	159	6	5	2311	5	PFAS	17	8168408	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	123911	8168408	73026802	299	39128											
MYH8	4626	broad.mit.edu	37	chr17	10302868	10302868	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtctttacccgcttctGtctgcaggcgcgctctctgt	4	14	10	13	3	4	1	0	0	4	1	5	1	4	1	1	1	2	3	1	1	1	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:10302868G>C	ENST00000403437.2	-	28	3948	c.3854C>G	c.(3853-3855)aCa>aGa	p.T1285R	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1285					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACCCGCTTCTGTCTGCAGGCG	0.473									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				45	16					0	0	0	0	C	10302868	G	C	10302868	3	2	219	1	0	0	0	0	1	0	0	0	10111	1377	48	4	2011	4	MYH8	17	10302868	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	2134460	10302868	70892342	300	39129											
MYH1	4619	broad.mit.edu	37	chr17	10395801	10395801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcttgttgacctgggactCagcaatgtcagcccgttcct	7	11	10	13	1	2	1	2	1	0	0	3	2	3	2	3	1	3	4	3	1	1	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:10395801C>T	ENST00000226207.5	-	40	5846	c.5752G>A	c.(5752-5754)Gag>Aag	p.E1918K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1918						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACCTGGGACTCAGCAATGTCA	0.488													62	31					0	0	0	0	T	10395801	C	T	10395801	3	4	219	1	0	0	0	0	1	0	0	0	10099	835	29	2	71	2	MYH1	17	10395801	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	92933	10395801	70799409	301	39130											
UNC45B	146862	broad.mit.edu	37	chr17	33486400	33486400	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctttttcttcagacaccaAgaaggacctgaagcagatca	13	10	7	11	0	4	4	2	1	2	3	4	5	4	5	2	1	1	1	2	1	3	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:33486400A>G	ENST00000268876.5	+	8	912	c.815A>G	c.(814-816)aAg>aGg	p.K272R	UNC45B_ENST00000591048.1_Missense_Mutation_p.K272R|UNC45B_ENST00000433649.1_Missense_Mutation_p.K272R|UNC45B_ENST00000394570.2_Missense_Mutation_p.K272R|UNC45B_ENST00000378449.1_Missense_Mutation_p.K272R	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	272					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCAGACACCAAGAAGGACCTG	0.507													130	233					0	0	0	0	G	33486400	A	G	33486400	3	3	219	1	0	0	0	0	1	0	0	0	17085	72	3	5	841	5	UNC45B	17	33486400	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	23090599	33486400	47708810	302	39131											
ATXN7L3	56970	broad.mit.edu	37	chr17	42274669	42274669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggagcaaagcgggaggCggcaatgctgcgactgcaat	11	5	17	8	3	0	0	0	0	0	0	0	3	0	2	0	5	5	4	0	5	3	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:42274669C>A	ENST00000389384.4	-	3	591	c.283G>T	c.(283-285)Gcc>Tcc	p.A95S	ATXN7L3_ENST00000454077.2_Missense_Mutation_p.A95S|ATXN7L3_ENST00000593073.1_Intron	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	95					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAGCGGGAGGCGGCAATGCTG	0.592													74	84					2.23852e-25	8.07757e-25	1	0	A	42274669	C	A	42274669	3	1	219	1	0	0	0	0	1	0	0	0	1222	768	27	3	821	3	ATXN7L3	17	42274669	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	8788269	42274669	38920541	303	39132											
SPAG9	9043	broad.mit.edu	37	chr17	49074019	49074019	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgacgatactgctctctCttttgttctctgcgtgaggc	5	15	9	12	2	3	2	0	2	3	0	5	3	3	2	1	1	3	2	1	1	1	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:49074019C>T	ENST00000262013.7	-	16	2083	c.1875G>A	c.(1873-1875)aaG>aaA	p.K625K	SPAG9_ENST00000505279.1_Silent_p.K615K|SPAG9_ENST00000510283.1_Silent_p.K468K|SPAG9_ENST00000357122.4_Silent_p.K611K	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	625					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ACTGCTCTCTCTTTTGTTCTC	0.393													12	32					0	0	0	0	T	49074019	C	T	49074019	2	4	219	1	0	0	0	0	0	0	0	1	15075	912	32	2		2	SPAG9	17	49074019	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	6799350	49074019	32121191	304	39133											
CSH2	1443	broad.mit.edu	37	chr17	61949685	61949685	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccgtcttccagcctcTgcaaagtgaaggaagagaag	11	7	13	10	1	2	2	0	1	2	1	3	4	3	3	3	2	3	2	3	2	4	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:61949685T>A	ENST00000392886.2	-	5	608		c.e5-2		CSH2_ENST00000560142.1_Splice_Site|CSH2_ENST00000345366.7_Splice_Site|CSH2_ENST00000336844.5_3'UTR	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2						female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						TTCCAGCCTCTGCAAAGTGAA	0.547													42	61					0	0	0	0	A	61949685	T	A	61949685	5	1	219	1	0	0	0	0	0	0	1	0	3973	1594	55	5	202	5	CSH2	17	61949685	Splice_Site	SNP	T	TCGA-CR-7398-01A-11D-2012-08	12875666	61949685	19245525	305	39134											
PRKAR1A	5573	broad.mit.edu	37	chr17	66511665	66511665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcagttgtgcactgctcGacctgagagacccatggcat	8	10	12	11	1	0	2	0	1	0	1	1	4	0	2	2	1	3	5	2	1	0	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:66511665G>T	ENST00000589228.1	+	2	253	c.125G>T	c.(124-126)cGa>cTa	p.R42L	PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R42L|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R42L|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R42L|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.R42L|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R42L	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	42	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)					TGCACTGCTCGACCTGAGAGA	0.473			"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				13	17					4.7546e-09	1.41692e-08	1	0	T	66511665	G	T	66511665	3	4	219	1	0	0	0	0	1	0	0	0	12583	1058	37	3	127	3	PRKAR1A	17	66511665	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	4561980	66511665	14683545	306	39135											
ABCA8	10351	broad.mit.edu	37	chr17	66914238	66914238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtactgaagaggatcacgCggtctgttttgcgttctttc	6	14	13	8	3	3	2	1	1	2	1	4	3	3	3	0	3	2	3	0	3	2	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:66914238C>T	ENST00000269080.2	-	14	2014	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	ABCA8_ENST00000586539.1_Missense_Mutation_p.R666H|ABCA8_ENST00000430352.2_Missense_Mutation_p.R666H	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	626	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAGGATCACGCGGTCTGTTTT	0.458													22	39					0	0	0	0	T	66914238	C	T	66914238	3	4	219	1	0	0	0	0	1	0	0	0	38	768	27	1	2968	1	ABCA8	17	66914238	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	402573	66914238	14280972	307	39136											
KIF19	124602	broad.mit.edu	37	chr17	72348368	72348368	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccagcagactacaacctGgccgtcccgcagcgcctgga	8	5	10	18	3	0	1	0	0	0	1	2	2	2	2	6	2	4	2	6	2	2	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:72348368G>T	ENST00000389916.4	+	14	2007	c.1869G>T	c.(1867-1869)ctG>ctT	p.L623L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	623					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ACTACAACCTGGCCGTCCCGC	0.687													9	30					3.09899e-07	8.75609e-07	1	0	T	72348368	G	T	72348368	2	4	219	1	0	0	0	0	0	0	0	1	8333	1335	47	4		4	KIF19	17	72348368	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	5434130	72348368	8846842	308	39137											
ENPP7	339221	broad.mit.edu	37	chr17	77708950	77708950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaactacaaaaatgagAcggagtggagagcgaacatc	18	4	10	9	2	0	2	0	1	0	2	1	6	0	3	0	2	4	0	0	2	5	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:77708950A>G	ENST00000328313.5	+	3	729	c.508A>G	c.(508-510)Acg>Gcg	p.T170A		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	170					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CAAAAATGAGACGGAGTGGAG	0.597													21	31					0	0	0	0	G	77708950	A	G	77708950	3	3	219	1	0	0	0	0	1	0	0	0	5173	275	10	5	518	5	ENPP7	17	77708950	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	5360582	77708950	3486260	309	39138											
SMCHD1	23347	broad.mit.edu	37	chr18	2770009	2770009	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttaagaagcagcaacaaatGgcagcacttacaaaagaaaa	21	5	8	7	0	0	2	0	0	0	2	0	2	0	2	0	1	5	5	0	1	9	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:2770009G>C	ENST00000320876.6	+	39	5207	c.4869G>C	c.(4867-4869)atG>atC	p.M1623I	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.M1623I	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1623					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGCAACAAATGGCAGCACTTA	0.279													14	35					0	0	0	0	C	2770009	G	C	2770009	3	2	219	1	0	0	0	0	1	0	0	0	14876	1348	47	4	5023	4	SMCHD1	18	2770009	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08		2770009	75307239	310	39139											
MYOM1	8736	broad.mit.edu	37	chr18	3129467	3129467	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctggaggcggttagtcCaccaggctcatcgctcagtg	6	8	12	15	2	2	0	2	0	0	0	4	1	3	1	4	4	0	3	4	4	1	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:3129467C>A	ENST00000356443.4	-	18	2890	c.2557G>T	c.(2557-2559)Gga>Tga	p.G853*	MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.G853*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	853						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCGGTTAGTCCACCAGGCTCA	0.567											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	64					8.04919e-23	2.84452e-22	1	0	A	3129467	C	A	3129467	4	1	219	1	0	0	0	0	0	1	0	0	10161	603	21	4	2584	4	MYOM1	18	3129467	Nonsense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	359458	3129467	74947781	311	39140											
EPB41L3	23136	broad.mit.edu	37	chr18	5415942	5415942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagagcgtatggcactgagaAggaggcagacagcagaaaga	16	3	16	6	1	0	5	0	1	0	5	0	8	0	6	0	3	2	4	0	3	3	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:5415942A>T	ENST00000341928.2	-	13	2282	c.1942T>A	c.(1942-1944)Ttc>Atc	p.F648I	EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.F648I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	648	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGCACTGAGAAGGAGGCAGAC	0.577													29	45					0	0	0	0	T	5415942	A	T	5415942	3	4	219	1	0	0	0	0	1	0	0	0	5192	72	3	5	1361	5	EPB41L3	18	5415942	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	2286475	5415942	72661306	312	39141											
CDH2	1000	broad.mit.edu	37	chr18	25591835	25591835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagctcttgaggaaaaggtCccctggagttttctggcaag	10	10	12	9	0	2	1	0	1	2	0	3	3	3	3	2	4	1	3	2	4	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:25591835C>A	ENST00000269141.3	-	4	944	c.521G>T	c.(520-522)gGa>gTa	p.G174V	CDH2_ENST00000399380.3_Missense_Mutation_p.G143V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	174	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGAAAAGGTCCCCTGGAGTT	0.408													45	176					2.24722e-20	7.80339e-20	1	0	A	25591835	C	A	25591835	3	1	219	1	0	0	0	0	1	0	0	0	3134	855	30	2	2251	2	CDH2	18	25591835	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	20175893	25591835	52485413	313	39142											
MAPRE2	10982	broad.mit.edu	37	chr18	32706962	32706962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggatccacaccttctcgaCcctcatcagccaaaagggct	11	7	7	16	1	3	0	2	0	1	0	5	2	4	1	4	2	1	1	4	2	2	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:32706962C>T	ENST00000436190.2	+	6	899	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S	MAPRE2_ENST00000413393.1_Missense_Mutation_p.P178S|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P178S|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P168S|MAPRE2_ENST00000300249.5_Missense_Mutation_p.P221S|MAPRE2_ENST00000588910.1_Missense_Mutation_p.P221S	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	221	DCTN1-binding.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						ACCTTCTCGACCCTCATCAGC	0.418													66	33					0	0	0	0	T	32706962	C	T	32706962	3	4	219	1	0	0	0	0	1	0	0	0	9364	507	18	4	773	4	MAPRE2	18	32706962	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	7115127	32706962	45370286	314	39143											
C18orf25	147339	broad.mit.edu	37	chr18	43795987	43795987	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcagaaagatggtgtagcGgattctacagttatttcttc	10	15	10	6	1	3	2	1	0	2	2	4	3	3	3	0	2	2	3	0	2	4	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:43795987G>T	ENST00000282059.6	+	2	515	c.141G>T	c.(139-141)gcG>gcT	p.A47A	C18orf25_ENST00000321319.6_Silent_p.A47A	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	47										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						ATGGTGTAGCGGATTCTACAG	0.458													91	25					6.71967e-41	2.63077e-40	1	0	T	43795987	G	T	43795987	2	4	219	1	0	0	0	0	0	0	0	1	1916	1103	39	3		3	C18orf25	18	43795987	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	11089025	43795987	34281261	315	39144											
ST8SIA5	29906	broad.mit.edu	37	chr18	44284609	44284609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttatattcaaaaggcccCtcataaaattcaaagtacct	16	11	5	9	0	3	0	3	0	0	0	3	1	3	0	3	1	1	2	3	1	8	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:44284609C>A	ENST00000315087.7	-	2	810	c.150G>T	c.(148-150)gaG>gaT	p.E50D	ST8SIA5_ENST00000536490.1_Intron|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E86D|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	50					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAAAAGGCCCCTCATAAAATT	0.512													7	241					0.00307968	0.00791729	1	0	A	44284609	C	A	44284609	3	1	219	1	0	0	0	0	1	0	0	0	15325	680	24	4	1004	4	ST8SIA5	18	44284609	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	488622	44284609	33792639	316	39145											
TCEB3B	51224	broad.mit.edu	37	chr18	44560256	44560256	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagaggtcccagagctcTgagaagacatggctgggcac	10	7	14	10	0	2	4	0	2	2	4	3	6	3	4	1	3	1	3	1	3	1	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:44560256T>C	ENST00000332567.4	-	1	1732	c.1380A>G	c.(1378-1380)tcA>tcG	p.S460S	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	460					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCAGAGCTCTGAGAAGACAT	0.592													103	72					0	0	0	0	C	44560256	T	C	44560256	2	2	219	1	0	0	0	0	0	0	0	1	15776	1567	55	5		5	TCEB3B	18	44560256	Silent	SNP	T	TCGA-CR-7398-01A-11D-2012-08	275647	44560256	33516992	317	39146											
DCC	1630	broad.mit.edu	37	chr18	50866235	50866235	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccttacgctgagacagtgCgtgtggacagcaagcagcga	10	6	14	11	3	0	1	0	1	0	1	0	4	0	2	1	1	5	3	1	1	2	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:50866235C>A	ENST00000442544.2	+	15	2933	c.2317C>A	c.(2317-2319)Cgt>Agt	p.R773S	DCC_ENST00000412726.1_Missense_Mutation_p.R621S|DCC_ENST00000581580.1_Missense_Mutation_p.R428S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	773	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGAGACAGTGCGTGTGGACAG	0.418													68	49					3.13765e-25	1.1288e-24	1	0	A	50866235	C	A	50866235	3	1	219	1	0	0	0	0	1	0	0	0	4314	768	27	3	2375	3	DCC	18	50866235	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	6305979	50866235	27211013	318	39147											
LPPR3	79948	broad.mit.edu	37	chr19	813188	813188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccacttggcgcgcaccccGgcgccgcttttgggggacag	5	6	15	15	5	0	0	0	0	0	0	0	1	0	1	4	4	1	2	4	4	0	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:813188G>A	ENST00000359894.2	-	7	1686	c.1623C>T	c.(1621-1623)gcC>gcT	p.A541A	LPPR3_ENST00000520876.3_Silent_p.A513A	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		513						integral to membrane	phosphatidate phosphatase activity										CGCGCACCCCGGCGCCGCTTT	0.746													8	9					0	0	0	0	A	813188	G	A	813188	2	1	219	1	0	0	0	0	0	0	0	1	8990	1103	39	1		1	LPPR3	19	813188	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08		813188	58315795	319	39148											
MUC16	94025	broad.mit.edu	37	chr19	9064360	9064360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggatgaggtgaggtcaCggcaggtaaagacagcgggg	13	4	18	6	2	1	3	1	2	0	1	1	4	1	4	0	7	2	2	0	7	3	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:9064360C>T	ENST00000397910.4	-	3	23289	c.23086G>A	c.(23086-23088)Gtg>Atg	p.V7696M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7698	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V7696M(2)|p.V3329M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGAGGTCACGGCAGGTAAA	0.582													18	49					0	0	0	0	T	9064360	C	T	9064360	3	4	219	1	0	0	0	0	1	0	0	0	10043	536	19	1	20765	1	MUC16	19	9064360	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	8251172	9064360	50064623	320	39149											
DNMT1	1786	broad.mit.edu	37	chr19	10265725	10265725	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatccatcagaatgtattcGgcaaatgctggggtgaacag	12	9	13	7	1	1	2	1	1	0	1	3	3	2	3	1	4	2	3	1	4	4	2	rs75443147	by1000genomes	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:10265725G>A	ENST00000340748.4	-	19	1687	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A	DNMT1_ENST00000359526.4_Silent_p.A500A|DNMT1_ENST00000540357.1_Silent_p.A484A			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	484	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAATGTATTCGGCAAATGCTG	0.532													37	38					0	0	0	0	A	10265725	G	A	10265725	2	1	219	1	0	0	0	0	0	0	0	1	4711	1103	39	1		1	DNMT1	19	10265725	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1201365	10265725	48863258	321	39150											
MAST1	22983	broad.mit.edu	37	chr19	12958435	12958435	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccccgcagccccgggcgCtccccctcctcctacgacaa	5	6	7	23	4	1	0	0	0	1	0	5	1	4	0	8	1	2	2	8	1	2	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:12958435C>T	ENST00000251472.4	+	6	537	c.498C>T	c.(496-498)cgC>cgT	p.R166R	MAST1_ENST00000591495.1_Silent_p.R162R	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	166					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCCCGGGCGCTCCCCCTCCT	0.627											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	43					0	0	0	0	T	12958435	C	T	12958435	2	4	219	1	0	0	0	0	0	0	0	1	9393	784	28	4		4	MAST1	19	12958435	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	2692710	12958435	46170548	322	39151											
IL27RA	9466	broad.mit.edu	37	chr19	14163009	14163009	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagcccgcccaggccacCgccccgcttgactctgggta	5	6	10	20	3	1	1	0	1	1	0	2	1	2	1	7	2	1	2	7	2	1	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:14163009C>A	ENST00000263379.2	+	14	1943	c.1818C>A	c.(1816-1818)acC>acA	p.T606T		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	606					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCCAGGCCACCGCCCCGCTTG	0.662													16	14					3.52763e-06	9.6929e-06	1	0	A	14163009	C	A	14163009	2	1	219	1	0	0	0	0	0	0	0	1	7734	639	23	3		3	IL27RA	19	14163009	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1204574	14163009	44965974	323	39152											
CIB3	117286	broad.mit.edu	37	chr19	16275696	16275696	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtctgctccaggtcccaCgcacaaatgtagtcgtcgtt	8	10	9	14	4	1	0	0	0	1	0	5	0	3	0	3	1	1	4	3	1	2	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:16275696C>A	ENST00000269878.4	-	5	424	c.375G>T	c.(373-375)gcG>gcT	p.A125A	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Silent_p.A76A	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	125	EF-hand 2.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CCAGGTCCCACGCACAAATGT	0.597													28	87					1.04121e-07	2.99849e-07	1	0	A	16275696	C	A	16275696	2	1	219	1	0	0	0	0	0	0	0	1	3451	523	19	3		3	CIB3	19	16275696	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	2112687	16275696	42853287	324	39153											
UNC13A	23025	broad.mit.edu	37	chr19	17766748	17766748	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagctgcaggcaccttGtcgggcgtggctggcttggg	3	10	17	11	2	1	0	1	0	0	0	2	0	1	0	1	5	3	6	1	5	0	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:17766748G>T	ENST00000428389.2	-	11	1490	c.1491C>A	c.(1489-1491)gaC>gaA	p.D497E	UNC13A_ENST00000552293.1_Missense_Mutation_p.D409E|UNC13A_ENST00000519716.2_Missense_Mutation_p.D409E|UNC13A_ENST00000252773.7_Missense_Mutation_p.D409E|UNC13A_ENST00000551649.1_Missense_Mutation_p.D409E|UNC13A_ENST00000550896.1_Missense_Mutation_p.D409E			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	409					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CAGGCACCTTGTCGGGCGTGG	0.697													5	16					1.23904e-05	3.37357e-05	1	0	T	17766748	G	T	17766748	3	4	219	1	0	0	0	0	1	0	0	0	17080	1368	48	4	4016	4	UNC13A	19	17766748	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1491052	17766748	41362235	325	39154											
HAPLN4	404037	broad.mit.edu	37	chr19	19368850	19368850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggttcacgatggggtagcGcgcactgccatcggccagcc	6	6	15	14	5	1	0	1	0	0	0	2	1	1	0	3	4	3	3	3	4	1	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:19368850G>A	ENST00000291481.7	-	5	1048	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	329	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			ATGGGGTAGCGCGCACTGCCA	0.731													4	4					0	0	0	0	A	19368850	G	A	19368850	3	1	219	1	0	0	0	0	1	0	0	0	7007	1087	38	1	227	1	HAPLN4	19	19368850	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1602102	19368850	39760133	326	39155											
ZNF99	7652	broad.mit.edu	37	chr19	22941167	22941167	+	Frame_Shift_Del	DEL	C	C	-																															agaaatgcttaaaagctttgCcacattcttcacatttgcaa																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:22941167delC	ENST00000397104.3	-	5	1270	c.1271delG	c.(1270-1272)gcfs	p.G424fs	ZNF99_ENST00000596209.1_Frame_Shift_Del_p.G515fs					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAAGCTTTGCCACATTCTTC	0.338													29	33	---	---	---	---					-	22941167	C	-	22941167	7	5	219	1	0	1	0	1	0	0	0	0	18297	739	26	0	1853	0	ZNF99	19	22941167	Frame_Shift_Del	DEL	C	TCGA-CR-7398-01A-11D-2012-08	3572317	22941167	36187816	327	39156											
SLC7A9	11136	broad.mit.edu	37	chr19	33333131	33333131	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacgatgagtcctagaatCgtcaggccataaaacagcca	15	7	8	11	2	2	2	2	1	0	1	4	3	3	2	3	1	2	0	3	1	4	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:33333131C>A	ENST00000023064.4	-	11	1358	c.1167G>T	c.(1165-1167)acG>acT	p.T389T	SLC7A9_ENST00000587772.1_Silent_p.T389T|SLC7A9_ENST00000590341.1_Silent_p.T389T	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	389					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	p.T389T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GTCCTAGAATCGTCAGGCCAT	0.428													15	42					4.7546e-09	1.41692e-08	1	0	A	33333131	C	A	33333131	2	1	219	1	0	0	0	0	0	0	0	1	14793	871	31	3		3	SLC7A9	19	33333131	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	10391964	33333131	25795852	328	39157											
FCGBP	8857	broad.mit.edu	37	chr19	40421289	40421289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgaagtcgaagcgccGgccgtcgaagctcacatagt	10	6	12	13	5	1	1	1	1	0	0	3	3	1	1	3	1	2	1	3	1	4	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:40421289G>A	ENST00000221347.6	-	5	2639	c.2632C>T	c.(2632-2634)Cgg>Tgg	p.R878W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	878	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGAAGCGCCGGCCGTCGAAG	0.667													4	9					0	0	0	0	A	40421289	G	A	40421289	3	1	219	1	0	0	0	0	1	0	0	0	5823	1115	39	1	13713	1	FCGBP	19	40421289	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	7088158	40421289	18707694	329	39158											
FKRP	79147	broad.mit.edu	37	chr19	47259642	47259642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctacctctacgaggagcGctggacgcccccctgctgcc	5	6	11	19	4	1	0	0	0	1	0	1	3	1	2	6	2	5	2	6	2	2	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:47259642G>A	ENST00000318584.5	+	4	1232	c.935G>A	c.(934-936)cGc>cAc	p.R312H	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.R312H	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	312			R -> C (in MDDGC5).			extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TACGAGGAGCGCTGGACGCCC	0.726													6	4					0	0	0	0	A	47259642	G	A	47259642	3	1	219	1	0	0	0	0	1	0	0	0	5962	1087	38	1	937	1	FKRP	19	47259642	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	6838353	47259642	11869341	330	39159											
KLK8	11202	broad.mit.edu	37	chr19	51503433	51503433	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgttgtagcaggggtgtggGatggactgaaccacaggtat	9	10	16	6	0	0	1	0	1	0	0	0	3	0	3	1	5	2	4	1	5	3	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:51503433G>A	ENST00000600767.1	-	5	801	c.312C>T	c.(310-312)atC>atT	p.I104I	CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000291726.7_Silent_p.I104I|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000391806.2_Silent_p.I149I			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	104	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		AGGGGTGTGGGATGGACTGAA	0.522													54	62					0	0	0	0	A	51503433	G	A	51503433	2	1	219	1	0	0	0	0	0	0	0	1	8462	1164	41	2		2	KLK8	19	51503433	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	4243791	51503433	7625550	331	39160											
KLK9	284366	broad.mit.edu	37	chr19	51507039	51507039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagggtatgcccagtgaCagagtttgttctccaggatg	8	11	13	9	0	1	2	0	1	1	1	3	3	2	3	3	2	1	3	3	2	1	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:51507039C>T	ENST00000250366.6	-	4	557	c.524G>A	c.(523-525)tGt>tAt	p.C175Y	CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Missense_Mutation_p.C175Y|KLK9_ENST00000376832.4_Missense_Mutation_p.C175Y	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	175	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TGCCCAGTGACAGAGTTTGTT	0.567													21	35					0	0	0	0	T	51507039	C	T	51507039	3	4	219	1	0	0	0	0	1	0	0	0	8463	478	17	4	236	4	KLK9	19	51507039	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	3606	51507039	7621944	332	39161											
PEG3	5178	broad.mit.edu	37	chr19	57335999	57335999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcttaggtttggtggCagacaagtgctttggaggca	8	12	15	6	0	1	1	0	0	1	1	1	3	1	3	0	6	1	4	0	6	2	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:57335999C>T	ENST00000326441.9	-	4	388	c.25G>A	c.(25-27)Gcc>Acc	p.A9T	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A9T|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000594706.1_Intron|PEG3_ENST00000598410.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	9					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A9S(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTTTGGTGGCAGACAAGTGC	0.488													18	58					0	0	0	0	T	57335999	C	T	57335999	3	4	219	1	0	0	0	0	1	0	0	0	11791	710	25	4		4	PEG3	19	57335999	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	5828960	57335999	1792984	333	39162											
ZIM3	114026	broad.mit.edu	37	chr19	57647112	57647112	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatgctcttccacagctaTgacattcaaagggtttttga	11	13	8	9	1	2	2	1	2	1	0	3	3	3	2	1	1	2	3	1	1	3	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:57647112T>C	ENST00000269834.1	-	5	978	c.593A>G	c.(592-594)cAt>cGt	p.H198R		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCACAGCTATGACATTCAAA	0.438													68	69					0	0	0	0	C	57647112	T	C	57647112	3	2	219	1	0	0	0	0	1	0	0	0	17780	1464	51	5	829	5	ZIM3	19	57647112	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	311113	57647112	1481871	334	39163											
TMC2	117532	broad.mit.edu	37	chr20	2577848	2577848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggggagagtgacaacttCacattcagcttcaagatgtt	13	10	11	7	0	3	3	3	1	0	2	3	5	3	3	0	2	2	2	0	2	3	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr20:2577848C>T	ENST00000358864.1	+	10	1143	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	376						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTGACAACTTCACATTCAGCT	0.507													18	33					0	0	0	0	T	2577848	C	T	2577848	2	4	219	1	0	0	0	0	0	0	0	1	16079	825	29	2		2	TMC2	20	2577848	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08		2577848	60447672	335	39164											
SLC4A11	83959	broad.mit.edu	37	chr20	3210334	3210334	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaggctggcgttgaggctGgcgccgaggcctgacaggct	5	7	19	10	3	0	2	0	2	0	0	0	4	0	3	2	7	0	4	2	7	0	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr20:3210334G>A	ENST00000380059.3	-	14	1808	c.1707C>T	c.(1705-1707)gcC>gcT	p.A569A	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.A542A|SLC4A11_ENST00000539553.1_Silent_p.A526A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	542	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CGTTGAGGCTGGCGCCGAGGC	0.612													26	26					0	0	0	0	A	3210334	G	A	3210334	2	1	219	1	0	0	0	0	0	0	0	1	14740	1335	47	4		4	SLC4A11	20	3210334	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	632486	3210334	59815186	336	39165											
SLC17A9	63910	broad.mit.edu	37	chr20	61594696	61594696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacagagtcccctggagaCggctcttccggaagcctgct	9	7	11	14	2	1	2	0	0	1	2	3	4	3	3	4	3	3	2	4	3	2	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr20:61594696C>T	ENST00000370349.3	+	7	886	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	SLC17A9_ENST00000370351.4_Missense_Mutation_p.R234W|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	234			N -> S (in dbSNP:rs2427463).		exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCCCTGGAGACGGCTCTTCCG	0.647													16	19					0	0	0	0	T	61594696	C	T	61594696	3	4	219	1	0	0	0	0	1	0	0	0	14512	527	19	1	722	1	SLC17A9	20	61594696	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	58384362	61594696	1430824	337	39166											
TPTE	7179	broad.mit.edu	37	chr21	10910382	10910382	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattaatattttgtctgtTgtaatgttatcaagtaccta	12	19	5	5	0	3	0	2	0	1	0	3	0	3	0	1	0	1	4	1	0	8	9			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:10910382T>C	ENST00000298232.7	-	21	1687	c.1320A>G	c.(1318-1320)acA>acG	p.T440T	TPTE_ENST00000361285.4_Silent_p.T458T|TPTE_ENST00000342420.5_Silent_p.T420T|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	458	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTGTCTGTTGTAATGTTAT	0.338													6	107					0	0	0	0	C	10910382	T	C	10910382	2	2	219	1	0	0	0	0	0	0	0	1	16525	1799	63	5		5	TPTE	21	10910382	Silent	SNP	T	TCGA-CR-7398-01A-11D-2012-08		10910382	37219513	338	39167											
TPTE	7179	broad.mit.edu	37	chr21	10969098	10969098	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcactgataggtgacacccgGgctgctcctttaaattcact	9	12	8	12	1	2	2	2	2	0	0	3	2	3	2	2	2	1	2	2	2	3	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:10969098G>T	ENST00000361285.4	-	7	479	c.150C>A	c.(148-150)gcC>gcA	p.A50A	TPTE_ENST00000298232.7_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_Intron	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	50					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGACACCCGGGCTGCTCCTT	0.463													16	101					3.41278e-10	1.05374e-09	1	0	T	10969098	G	T	10969098	2	4	219	1	0	0	0	0	0	0	0	1	16525	1219	43	4		4	TPTE	21	10969098	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	58716	10969098	37160797	339	39168											
SON	6651	broad.mit.edu	37	chr21	34932435	34932435	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagctctagattttggtggTagcaaatttatcgggtggag	10	14	13	4	1	1	1	0	0	1	1	2	2	1	2	0	4	2	3	0	4	5	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:34932435T>C	ENST00000300278.4	+	7	6939	c.6910T>C	c.(6910-6912)Tag>Cag	p.*2304Q	SON_ENST00000381692.2_Intron|SON_ENST00000356577.4_Intron|SON_ENST00000290239.6_Intron|AP000304.2_ENST00000439593.1_RNA	NM_032195.1	NP_115571.1	P18583	SON_HUMAN	SON DNA binding protein	0					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATTTTGGTGGTAGCAAATTTA	0.468													3	175					0	0	0	0	C	34932435	T	C	34932435	4	2	219	1	0	0	0	0	0	0	0	0	15014	1651	57	5	6936	5	SON	21	34932435	Nonstop_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	23963337	34932435	13197460	340	39169											
PFKL	5211	broad.mit.edu	37	chr21	45732884	45732884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctcagagactacagccCggacctactcgcacctgaac	12	6	8	15	2	1	3	1	1	1	2	3	5	1	4	3	1	4	1	3	1	3	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:45732884C>T	ENST00000403390.1	+	6	592	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	PFKL_ENST00000349048.4_Missense_Mutation_p.R151W|PFKL_ENST00000496824.1_3'UTR			P17858	K6PL_HUMAN	phosphofructokinase, liver	151					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GACTACAGCCCGGACCTACTC	0.647													18	37					0	0	0	0	T	45732884	C	T	45732884	3	4	219	1	0	0	0	0	1	0	0	0	11836	643	23	1	469	1	PFKL	21	45732884	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	10800449	45732884	2397011	341	39170											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978296	45978296	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcttgcagcagacaggCacgcagcaggcctgctggca	9	5	14	13	1	0	1	0	0	0	1	0	1	0	1	1	4	4	8	1	4	0	1			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:45978296C>T	ENST00000391620.1	-	1	347	c.303G>A	c.(301-303)gtG>gtA	p.V101V	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	101	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						agcagacaggcacgcagcagg	0.647													71	126					0	0	0	0	T	45978296	C	T	45978296	2	4	219	1	0	0	0	0	0	0	0	1	8562	697	25	4		4	KRTAP10-3	21	45978296	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	245412	45978296	2151599	342	39171											
COL18A1	80781	broad.mit.edu	37	chr21	46912603	46912603	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtccctctttccccagggCcggccgggtttcgcaggctt	2	10	12	17	4	1	0	0	0	1	0	4	0	3	0	6	4	0	3	6	4	0	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:46912603C>A	ENST00000359759.4	+	23	3456	c.3435C>A	c.(3433-3435)ggC>ggA	p.G1145G	COL18A1_ENST00000355480.5_Silent_p.G910G|COL18A1_ENST00000400337.2_Silent_p.G730G			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1145	Triple-helical region 5 (COL5).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TTCCCCAGGGCCGGCCGGGTT	0.701													25	48					7.41945e-09	2.18929e-08	1	0	A	46912603	C	A	46912603	2	1	219	1	0	0	0	0	0	0	0	1	3705	726	26	4		4	COL18A1	21	46912603	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	934307	46912603	1217292	343	39172											
PIWIL3	440822	broad.mit.edu	37	chr22	25119105	25119105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtggcttaccattcattCctagtcaactctacatcaat	11	13	5	12	0	4	0	3	0	1	0	5	0	5	0	2	2	3	1	2	2	5	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr22:25119105C>A	ENST00000332271.5	-	19	2792	c.2376G>T	c.(2374-2376)agG>agT	p.R792S	PIWIL3_ENST00000527701.1_Missense_Mutation_p.R674S|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R674S	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	792	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACCATTCATTCCTAGTCAACT	0.338													26	8					5.45727e-16	1.83132e-15	1	0	A	25119105	C	A	25119105	3	1	219	1	0	0	0	0	1	0	0	0	12031	854	30	2	284	2	PIWIL3	22	25119105	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08		25119105	26185461	344	39173											
TBC1D10A	83874	broad.mit.edu	37	chr22	30688801	30688803	+	In_Frame_Del	DEL	CGC	CGC	-																															ccgcagctgaatgaggtgttCgcgctcaatctggcgctctg																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr22:30688801_30688803delCGC	ENST00000215790.7	-	9	1252_1254	c.1088_1090delGCG	c.(1087-1092)caa>c	p.RE363del	TBC1D10A_ENST00000403362.1_In_Frame_Del_p.RE275del|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_In_Frame_Del_p.RE370del	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	363						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						ATGAGGTGTTCGCGCTCAATCTG	0.635													24	12	---	---	---	---					-	30688803	CGC	-	30688801	7	5	219	1	0	1	0	1	0	0	0	0	15689	893	31	0	440	0	TBC1D10A	22	30688801	In_Frame_Del	DEL	CGC	TCGA-CR-7398-01A-11D-2012-08	5569696	30688801	20615765	345	39174											
CNKSR2	22866	broad.mit.edu	37	chrX	21670529	21670529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtacctcgaccttttcttgGatatctgtcaaaataccacc	10	14	5	12	1	3	0	1	0	2	0	4	2	3	1	4	1	2	1	4	1	5	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:21670529G>A	ENST00000425654.2	+	21	3385	c.2905G>A	c.(2905-2907)Gat>Aat	p.D969N	CNKSR2_ENST00000379510.3_Missense_Mutation_p.D999N	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	999					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CCTTTTCTTGGATATCTGTCA	0.393													30	15					0	0	0	0	A	21670529	G	A	21670529	3	1	219	1	0	0	0	0	1	0	0	0	3637	1174	41	2	3090	2	CNKSR2	23	21670529	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08		21670529	133600031	346	39175											
KLHL34	257240	broad.mit.edu	37	chrX	21674749	21674749	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgaccacccgcgagtcGtcggccaggggagaggatgc	7	4	17	13	5	0	2	0	1	0	1	2	5	0	3	4	4	1	0	4	4	0	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:21674749G>A	ENST00000379499.2	-	1	1699	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	386										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCGCGAGTCGTCGGCCAGGG	0.682													10	6					0	0	0	0	A	21674749	G	A	21674749	2	1	219	1	0	0	0	0	0	0	0	1	8439	1136	40	1		1	KLHL34	23	21674749	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	4220	21674749	133595811	347	39176											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998027	27998027	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcctctgtccccctccatGaactggatgatctgggagga	7	11	10	13	0	3	2	0	2	3	0	6	5	5	5	4	3	1	0	4	3	1	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:27998027G>A	ENST00000441525.1	-	1	1539	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	475										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCCCTCCATGAACTGGATGA	0.512													15	10					0	0	0	0	A	27998027	G	A	27998027	2	1	219	1	0	0	0	0	0	0	0	1	4310	1281	45	2		2	DCAF8L1	23	27998027	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	6323278	27998027	127272533	348	39177											
DMD	1756	broad.mit.edu	37	chrX	32361265	32361265	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattacctttattttcctttCatctctgggctcaggtaggc	6	17	7	11	0	3	0	2	0	1	0	5	0	4	0	2	3	1	2	2	3	3	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:32361265C>A	ENST00000357033.4	-	40	5931	c.5725G>T	c.(5725-5727)Gaa>Taa	p.E1909*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E1905*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1909	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATTTTCCTTTCATCTCTGGGC	0.343													25	12					7.07758e-08	2.04312e-07	1	0	A	32361265	C	A	32361265	4	1	219	1	0	0	0	0	0	1	0	0	4617	835	29	2	5640	2	DMD	23	32361265	Nonsense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	4363238	32361265	122909295	349	39178											
FAM47C	442444	broad.mit.edu	37	chrX	37027150	37027150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactggagtgtcccatctcCgcccacagcctcccaagact	9	7	8	17	1	1	2	0	0	1	2	4	3	3	3	5	1	1	0	5	1	1	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:37027150C>A	ENST00000358047.3	+	1	719	c.667C>A	c.(667-669)Cgc>Agc	p.R223S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	223										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCCATCTCCGCCCACAGCC	0.657													35	23					1.36239e-07	3.90465e-07	1	0	A	37027150	C	A	37027150	3	1	219	1	0	0	0	0	1	0	0	0	5618	652	23	3	669	3	FAM47C	23	37027150	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	4665885	37027150	118243410	350	39179											
ZNF630	57232	broad.mit.edu	37	chrX	47918863	47918863	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagaatgctcttccatacTtagtacattcatagggtttc	10	14	9	8	0	2	1	1	0	1	1	4	2	3	1	1	2	3	3	1	2	5	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:47918863T>A	ENST00000276054.4	-	5	1530	c.596A>T	c.(595-597)aAg>aTg	p.K199M	ZNF630_ENST00000409324.3_Missense_Mutation_p.K323M|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.K309M			Q2M218	ZN630_HUMAN	zinc finger protein 630	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TCTTCCATACTTAGTACATTC	0.433													26	7					0	0	0	0	A	47918863	T	A	47918863	3	1	219	1	0	0	0	0	1	0	0	0	18149	1609	56	5	1009	5	ZNF630	23	47918863	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	10891713	47918863	107351697	351	39180											
SHROOM4	57477	broad.mit.edu	37	chrX	50377848	50377848	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgttcaggggcactatggcGatgccctgtgggtcctatga	6	11	14	10	1	1	1	1	1	0	0	2	2	2	1	2	4	1	2	2	4	2	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:50377848G>C	ENST00000376020.2	-	4	1250	c.1225C>G	c.(1225-1227)Cgc>Ggc	p.R409G	SHROOM4_ENST00000460112.3_Missense_Mutation_p.R293G|SHROOM4_ENST00000289292.7_Missense_Mutation_p.R409G	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	409					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCACTATGGCGATGCCCTGTG	0.572													10	5					0	0	0	0	C	50377848	G	C	50377848	3	2	219	1	0	0	0	0	1	0	0	0	14384	1058	37	3	3280	3	SHROOM4	23	50377848	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	2458985	50377848	104892712	352	39181											
ALAS2	212	broad.mit.edu	37	chrX	55042056	55042056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttatgcataattccatcacGctccccaatcccagcgcccc	9	9	4	19	2	1	0	1	0	0	0	4	0	4	0	6	0	2	2	6	0	3	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:55042056G>A	ENST00000330807.5	-	8	1260	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Missense_Mutation_p.R338C|ALAS2_ENST00000396198.3_Missense_Mutation_p.R362C	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	375					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.R375C(1)|p.R362C(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ATTCCATCACGCTCCCCAATC	0.522													28	15					0	0	0	0	A	55042056	G	A	55042056	3	1	219	1	0	0	0	0	1	0	0	0	485	1087	38	1	656	1	ALAS2	23	55042056	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	4664208	55042056	100228504	353	39182											
ARHGEF9	23229	broad.mit.edu	37	chrX	62917154	62917154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgctcgtcactgaacatgtCccttctcttccggcactgct	5	14	7	15	2	2	1	1	1	1	0	6	1	4	1	2	1	3	3	2	1	1	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:62917154C>G	ENST00000253401.6	-	4	1212	c.412G>C	c.(412-414)Gac>Cac	p.D138H	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.D136H|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.D36H|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.D117H|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.D85H|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	138	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGAACATGTCCCTTCTCTTC	0.453													21	41					0	0	0	0	G	62917154	C	G	62917154	3	3	219	1	0	0	0	0	1	0	0	0	914	855	30	2	1166	2	ARHGEF9	23	62917154	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	7875098	62917154	92353406	354	39183											
ZMYM3	9203	broad.mit.edu	37	chrX	70468637	70468638	+	Frame_Shift_Ins	INS	-	-	G																															ctgcggcggcagaagctgcaINSgggtcggggagggcctgggg																										TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:70468637_70468638insG	ENST00000373998.1	-	9	2332_2333	c.1635_1636insC	c.(1633-1638)ccgcagfs	p.Q546fs	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Frame_Shift_Ins_p.Q548fs|ZMYM3_ENST00000353904.2_Frame_Shift_Ins_p.Q546fs|ZMYM3_ENST00000314425.5_Frame_Shift_Ins_p.Q546fs|ZMYM3_ENST00000373988.1_Frame_Shift_Ins_p.Q548fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	546					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGAAGCTGCAGGGTCGGGGAG	0.559													7	12	---	---	---	---					G	70468638	-	G	70468637	7	5	219	1	0	1	1	0	0	0	0	0	17796	188	7	0	2544	0	ZMYM3	23	70468637	Frame_Shift_Ins	INS	-	TCGA-CR-7398-01A-11D-2012-08	7551483	70468637	84801923	355	39184											
RLIM	51132	broad.mit.edu	37	chrX	73811496	73811496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgccaagttgtcaatctGttctttggtgagtcctctag	7	16	9	9	0	4	1	1	1	3	0	5	1	5	1	2	1	1	2	2	1	3	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:73811496G>T	ENST00000332687.6	-	4	1872	c.1654C>A	c.(1654-1656)Cag>Aag	p.Q552K	RLIM_ENST00000349225.2_Missense_Mutation_p.Q552K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	552					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGTCAATCTGTTCTTTGGTG	0.393													19	32					7.07596e-05	0.000188378	1	0	T	73811496	G	T	73811496	3	4	219	1	0	0	0	0	1	0	0	0	13475	1386	48	4	224	4	RLIM	23	73811496	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	3342859	73811496	81459064	356	39185											
RLIM	51132	broad.mit.edu	37	chrX	73811508	73811508	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatctgttctttggtgaGtcctctaggttggtcatcat	6	17	10	8	0	6	1	3	1	3	0	7	1	7	1	1	3	0	2	1	3	2	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:73811508G>C	ENST00000332687.6	-	4	1860	c.1642C>G	c.(1642-1644)Ctc>Gtc	p.L548V	RLIM_ENST00000349225.2_Missense_Mutation_p.L548V	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	548					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTTGGTGAGTCCTCTAGGT	0.413													17	30					0	0	0	0	C	73811508	G	C	73811508	3	2	219	1	0	0	0	0	1	0	0	0	13475	1029	36	4	236	4	RLIM	23	73811508	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	12	73811508	81459052	357	39186											
KIAA2022	340533	broad.mit.edu	37	chrX	73963237	73963237	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctgtccttcctctttGcctttcttcttgtccaagtt	2	21	4	14	0	4	0	0	0	4	0	8	0	8	0	5	0	1	1	5	0	1	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:73963237G>T	ENST00000373468.1	-	3	1806	c.1155C>A	c.(1153-1155)ggC>ggA	p.G385G	KIAA2022_ENST00000055682.5_Silent_p.G385G			Q5QGS0	K2022_HUMAN	KIAA2022	385					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTCCTCTTTGCCTTTCTTCT	0.458													52	153					1.4374e-25	5.2182e-25	1	0	T	73963237	G	T	73963237	2	4	219	1	0	0	0	0	0	0	0	1	8320	1306	46	4		4	KIAA2022	23	73963237	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	151729	73963237	81307323	358	39187											
TAF9B	51616	broad.mit.edu	37	chrX	77392460	77392460	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcaccaacacttaatcGtggaactagtctcccttggt	12	10	7	12	1	1	0	0	0	1	0	3	1	1	1	2	2	4	1	2	2	5	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:77392460G>T	ENST00000341864.5	-	5	527	c.433C>A	c.(433-435)Cga>Aga	p.R145R		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	145					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						ACACTTAATCGTGGAACTAGT	0.408													31	48					1.21669e-08	3.58132e-08	1	0	T	77392460	G	T	77392460	2	4	219	1	0	0	0	0	0	0	0	1	15627	1153	40	3		3	TAF9B	23	77392460	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	3429223	77392460	77878100	359	39188											
KLHL4	56062	broad.mit.edu	37	chrX	86773132	86773132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatactggcaccagtgccagGaccggcccctgcccatcaga	9	6	10	16	1	1	1	1	0	0	1	1	2	1	2	6	3	3	1	6	3	2	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:86773132G>T	ENST00000373119.4	+	1	381	c.236G>T	c.(235-237)gGa>gTa	p.G79V	KLHL4_ENST00000373114.4_Missense_Mutation_p.G79V	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	79						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CCAGTGCCAGGACCGGCCCCT	0.498													26	41					1.5548e-18	5.29162e-18	1	0	T	86773132	G	T	86773132	3	4	219	1	0	0	0	0	1	0	0	0	8443	1174	41	2	238	2	KLHL4	23	86773132	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	9380672	86773132	68497428	360	39189											
PABPC5	140886	broad.mit.edu	37	chrX	90690670	90690670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggacccagatgtcaccgagGacatgctctataagaagttc	12	9	10	10	1	2	2	1	0	1	2	3	5	2	4	2	2	1	2	2	2	3	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:90690670G>T	ENST00000312600.3	+	2	308	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	32	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TGTCACCGAGGACATGCTCTA	0.567													13	28					4.36969e-10	1.34573e-09	1	0	T	90690670	G	T	90690670	3	4	219	1	0	0	0	0	1	0	0	0	11438	1174	41	2	96	2	PABPC5	23	90690670	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	3917538	90690670	64579890	361	39190											
SYTL4	94121	broad.mit.edu	37	chrX	99931173	99931173	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacttccccattactgatcCctgaggagaaacaccagaag	13	7	7	14	0	0	4	0	2	0	2	2	5	2	4	5	1	2	0	5	1	3	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:99931173C>A	ENST00000455616.1	-	18	2214	c.1867_splice	c.e18-1	p.G623_splice	SYTL4_ENST00000263033.5_Splice_Site_p.G623_splice|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000454200.2_Splice_Site_p.G625_splice|SYTL4_ENST00000276141.6_Splice_Site_p.G623_splice|SYTL4_ENST00000372989.1_Splice_Site_p.G623_splice			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	623					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTACTGATCCCTGAGGAGAA	0.557													41	63					2.00842e-17	6.79685e-17	1	0	A	99931173	C	A	99931173	5	1	219	1	0	0	0	0	0	0	1	0	15576	637	22	4	151	4	SYTL4	23	99931173	Splice_Site	SNP	C	TCGA-CR-7398-01A-11D-2012-08	9240503	99931173	55339387	362	39191											
NOX1	27035	broad.mit.edu	37	chrX	100125791	100125791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggaaaacattcagccCtaaccaaacaacctagagaa	21	4	5	11	0	1	1	1	0	0	1	1	3	1	2	3	1	6	0	3	1	8	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:100125791C>T	ENST00000372966.3	-	2	263	c.58G>A	c.(58-60)Ggg>Agg	p.G20R	NOX1_ENST00000372964.1_Missense_Mutation_p.G20R|NOX1_ENST00000372960.4_Missense_Mutation_p.G20R|NOX1_ENST00000217885.5_Missense_Mutation_p.G20R	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	20					angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACATTCAGCCCTAACCAAACA	0.383													35	61					0	0	0	0	T	100125791	C	T	100125791	3	4	219	1	0	0	0	0	1	0	0	0	10626	681	24	4	1684	4	NOX1	23	100125791	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	194618	100125791	55144769	363	39192											
CENPI	2491	broad.mit.edu	37	chrX	100417906	100417906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttataagaagtagtgttcatCattcttccattcccagagca	12	14	6	9	0	3	2	2	0	1	2	5	2	5	2	2	0	1	3	2	0	4	7			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:100417906C>T	ENST00000372927.1	+	21	2498	c.2221C>T	c.(2221-2223)Cat>Tat	p.H741Y	CENPI_ENST00000423383.1_Missense_Mutation_p.H741Y|CENPI_ENST00000218507.5_Missense_Mutation_p.H727Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	741					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TAGTGTTCATCATTCTTCCAT	0.378													39	49					0	0	0	0	T	100417906	C	T	100417906	3	4	219	1	0	0	0	0	1	0	0	0	3262	826	29	2	2299	2	CENPI	23	100417906	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	292115	100417906	54852654	364	39193											
GPRASP1	9737	broad.mit.edu	37	chrX	101912157	101912157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatctttgcttcagcctgatCagcctagtcctgagttccca	8	13	7	13	0	3	2	2	2	1	0	5	2	5	2	4	0	3	2	4	0	2	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:101912157C>G	ENST00000537097.1	+	6	4129	c.3316C>G	c.(3316-3318)Cag>Gag	p.Q1106E	GPRASP1_ENST00000444152.1_Missense_Mutation_p.Q1106E|GPRASP1_ENST00000361600.5_Missense_Mutation_p.Q1106E|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.Q1106E	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1106	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCAGCCTGATCAGCCTAGTCC	0.488													62	120					0	0	0	0	G	101912157	C	G	101912157	3	3	219	1	0	0	0	0	1	0	0	0	6772	827	29	2	3318	2	GPRASP1	23	101912157	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1494251	101912157	53358403	365	39194											
FAM199X	139231	broad.mit.edu	37	chrX	103432977	103432977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtgcagcagagcggattcGggattcaaaagtaaaacgtc	15	7	12	7	3	1	1	1	0	0	1	3	3	1	3	0	2	4	3	0	2	5	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:103432977G>A	ENST00000493442.1	+	5	1152	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	FAM199X_ENST00000299906.5_Intron	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	329										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GAGCGGATTCGGGATTCAAAA	0.398													77	133					0	0	0	0	A	103432977	G	A	103432977	3	1	219	1	0	0	0	0	1	0	0	0	5573	1116	39	1	1004	1	FAM199X	23	103432977	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1520820	103432977	51837583	366	39195											
TEX13A	56157	broad.mit.edu	37	chrX	104464080	104464080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttcgaccgaccggagatCtccctccttctgcccccaat	6	11	7	17	3	2	1	0	0	2	1	5	4	3	1	6	1	1	1	6	1	1	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:104464080C>T	ENST00000413579.1	-	5	907	c.796G>A	c.(796-798)Gat>Aat	p.D266N	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Silent_p.E266E|TEX13A_ENST00000372578.3_Silent_p.E266E|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	266						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GACCGGAGATCTCCCTCCTTC	0.552													27	42					0	0	0	0	T	104464080	C	T	104464080	3	4	219	1	0	0	0	0	1	0	0	0	15870	912	32	2	437	2	TEX13A	23	104464080	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	1031103	104464080	50806480	367	39196											
MID2	11043	broad.mit.edu	37	chrX	107097876	107097876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccaacctggttaagcGcaacagcgaactagaaaatc	15	6	7	13	2	1	1	1	0	0	1	2	2	1	1	3	1	5	2	3	1	7	2			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:107097876G>C	ENST00000262843.6	+	3	1306	c.758G>C	c.(757-759)cGc>cCc	p.R253P	MID2_ENST00000443968.2_Missense_Mutation_p.R253P	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	253						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CTGGTTAAGCGCAACAGCGAA	0.448													33	47					0	0	0	0	C	107097876	G	C	107097876	3	2	219	1	0	0	0	0	1	0	0	0	9647	1087	38	3	768	3	MID2	23	107097876	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	2633796	107097876	48172684	368	39197											
IRS4	8471	broad.mit.edu	37	chrX	107977346	107977346	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctgggaaacatcatcatGtaccctcttgaatcttcaaa	13	12	5	11	0	6	1	3	1	3	0	6	2	6	2	1	1	2	1	1	1	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:107977346G>C	ENST00000372129.2	-	1	2305	c.2229C>G	c.(2227-2229)taC>taG	p.Y743*		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	743	CRK-binding.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ACATCATCATGTACCCTCTTG	0.458													50	88					0	0	0	0	C	107977346	G	C	107977346	4	2	219	1	0	0	0	0	0	1	0	0	7895	1372	48	4	1548	4	IRS4	23	107977346	Nonsense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	879470	107977346	47293214	369	39198											
WDR44	54521	broad.mit.edu	37	chrX	117527102	117527102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctagtacaaagaagcctGttccagcacgcccacctcct	10	8	8	15	1	0	1	0	0	0	1	2	1	2	1	5	1	3	4	5	1	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:117527102G>A	ENST00000254029.3	+	4	1089	c.694G>A	c.(694-696)Gtt>Att	p.V232I	WDR44_ENST00000371825.3_Missense_Mutation_p.V232I|WDR44_ENST00000371822.5_Missense_Mutation_p.V207I|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	232	Pro-rich.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAAGAAGCCTGTTCCAGCACG	0.517													88	130					0	0	0	0	A	117527102	G	A	117527102	3	1	219	1	0	0	0	0	1	0	0	0	17392	1377	48	4	708	4	WDR44	23	117527102	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	9549756	117527102	37743458	370	39199											
NKRF	55922	broad.mit.edu	37	chrX	118723982	118723982	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgtcatcctttcatagAcatactcaactgtcattcgg	9	13	7	12	1	4	1	4	0	0	1	6	1	5	1	2	2	2	0	2	2	3	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:118723982A>T	ENST00000371527.1	-	2	2058	c.1406T>A	c.(1405-1407)gTc>gAc	p.V469D	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.V469D|NKRF_ENST00000542113.1_Missense_Mutation_p.V484D	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	469					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CCTTTCATAGACATACTCAAC	0.403													52	92					0	0	0	0	T	118723982	A	T	118723982	3	4	219	1	0	0	0	0	1	0	0	0	10517	275	10	5	670	5	NKRF	23	118723982	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	1196880	118723982	36546578	371	39200											
AKAP14	158798	broad.mit.edu	37	chrX	119037469	119037469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttttgcagaggagcgaaacCctttgaaaaacatcaagtgg	14	10	10	7	1	1	2	1	1	0	1	1	4	1	3	1	2	4	1	1	2	4	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:119037469C>G	ENST00000371431.3	+	4	455	c.181C>G	c.(181-183)Cct>Gct	p.P61A	AKAP14_ENST00000371422.1_Missense_Mutation_p.P61A|AKAP14_ENST00000371425.4_Missense_Mutation_p.P61A|AKAP14_ENST00000371423.2_Missense_Mutation_p.P61A|AKAP14_ENST00000334356.2_Missense_Mutation_p.P61A|AKAP14_ENST00000394594.2_Missense_Mutation_p.P61A	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	61						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						GGAGCGAAACCCTTTGAAAAA	0.393													11	32					0	0	0	0	G	119037469	C	G	119037469	3	3	219	1	0	0	0	0	1	0	0	0	450	623	22	4	187	4	AKAP14	23	119037469	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	313487	119037469	36233091	372	39201											
ZBTB33	10009	broad.mit.edu	37	chrX	119388366	119388366	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatacctcccaaaataccAgttttgatggatcattaata	14	13	5	9	0	1	2	1	2	0	0	2	3	2	3	3	1	2	1	3	1	6	6			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:119388366A>T	ENST00000326624.2	+	2	1324	c.1096A>T	c.(1096-1098)Agt>Tgt	p.S366C	ZBTB33_ENST00000557385.1_Missense_Mutation_p.S366C	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	366					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCAAAATACCAGTTTTGATGG	0.373													51	96					0	0	0	0	T	119388366	A	T	119388366	3	4	219	1	0	0	0	0	1	0	0	0	17631	188	7	5	1098	5	ZBTB33	23	119388366	Missense_Mutation	SNP	A	TCGA-CR-7398-01A-11D-2012-08	350897	119388366	35882194	373	39202											
CT47B1	643311	broad.mit.edu	37	chrX	120008943	120008943	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcggcctcctggaccgaCgcagcctcctggatcaggcc	6	5	13	17	4	1	0	1	0	0	0	3	4	3	2	6	4	1	1	6	4	0	0	rs139114591	by1000genomes	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:120008943C>A	ENST00000371311.3	-	1	836	c.582G>T	c.(580-582)gcG>gcT	p.A194A		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	194										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTGGACCGACGCAGCCTCCT	0.706													38	69					8.73648e-17	2.94825e-16	1	0	A	120008943	C	A	120008943	2	1	219	1	0	0	0	0	0	0	0	1	4021	523	19	3		3	CT47B1	23	120008943	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	620577	120008943	35261617	374	39203											
THOC2	57187	broad.mit.edu	37	chrX	122778702	122778702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcattgcagtccatcaaaGaaagagatggaagtagtacc	17	7	10	7	0	1	2	1	0	0	2	2	4	2	3	2	1	3	4	2	1	6	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:122778702G>A	ENST00000245838.8	-	14	1518	c.1487C>T	c.(1486-1488)tCt>tTt	p.S496F	THOC2_ENST00000491737.1_Missense_Mutation_p.S381F|THOC2_ENST00000355725.4_Missense_Mutation_p.S496F	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	496					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTCCATCAAAGAAAGAGATGG	0.333													27	46					0	0	0	0	A	122778702	G	A	122778702	3	1	219	1	0	0	0	0	1	0	0	0	15959	942	33	2	3394	2	THOC2	23	122778702	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	2769759	122778702	32491858	375	39204											
ARHGAP36	158763	broad.mit.edu	37	chrX	130215646	130215646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccgattccagaatgggtGgctgcattccttttctgaag	8	13	10	10	1	1	2	0	1	1	1	4	3	4	2	3	2	1	2	3	2	2	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:130215646G>T	ENST00000276211.5	+	2	352	c.7G>T	c.(7-9)Ggc>Tgc	p.G3C	ARHGAP36_ENST00000370922.1_Intron	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	3					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CAGAATGGGTGGCTGCATTCC	0.517													51	74					4.01344e-20	1.38562e-19	1	0	T	130215646	G	T	130215646	3	4	219	1	0	0	0	0	1	0	0	0	885	1348	47	4	9	4	ARHGAP36	23	130215646	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	7436944	130215646	25054914	376	39205											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220538	130220538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccttcccattcaggagtgCacgcataaagatggaagagg	13	8	11	9	1	1	2	1	0	0	2	3	4	3	4	2	3	1	2	2	3	3	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:130220538C>T	ENST00000276211.5	+	11	1730	c.1385C>T	c.(1384-1386)gCa>gTa	p.A462V	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A450V|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.A326V	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	462					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTCAGGAGTGCACGCATAAAG	0.453													37	62					0	0	0	0	T	130220538	C	T	130220538	3	4	219	1	0	0	0	0	1	0	0	0	885	710	25	4	1423	4	ARHGAP36	23	130220538	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	4892	130220538	25050022	377	39206											
MAP7D3	79649	broad.mit.edu	37	chrX	135323385	135323385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttttttgctgataatcatCagcaagtctcctccgttcca	8	16	5	12	1	4	1	2	1	2	0	7	1	6	1	3	0	2	3	3	0	2	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:135323385C>G	ENST00000316077.9	-	5	689	c.469G>C	c.(469-471)Gat>Cat	p.D157H	MAP7D3_ENST00000370663.5_Missense_Mutation_p.D139H|MAP7D3_ENST00000370661.1_Missense_Mutation_p.D157H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	157						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGATAATCATCAGCAAGTCTC	0.328													23	36					0	0	0	0	G	135323385	C	G	135323385	3	3	219	1	0	0	0	0	1	0	0	0	9338	826	29	2	2217	2	MAP7D3	23	135323385	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	5102847	135323385	19947175	378	39207											
MAGEC1	9947	broad.mit.edu	37	chrX	140995682	140995682	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcccagagttctcctgTgagctccttcccctcctcca	4	14	5	18	0	2	2	0	1	2	1	8	2	7	2	7	0	1	2	7	0	0	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:140995682T>A	ENST00000285879.4	+	4	2778	c.2492T>A	c.(2491-2493)gTg>gAg	p.V831E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	831							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTCTCCTGTGAGCTCCTTC	0.567										HNSCC(15;0.026)			131	190					0	0	0	0	A	140995682	T	A	140995682	3	1	219	1	0	0	0	0	1	0	0	0	9249	1696	59	5	2498	5	MAGEC1	23	140995682	Missense_Mutation	SNP	T	TCGA-CR-7398-01A-11D-2012-08	5672297	140995682	14274878	379	39208											
MAGEC1	9947	broad.mit.edu	37	chrX	140996136	140996136	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtaaacacattagacctCacctctgaggggtgtctgag	10	12	10	9	0	3	3	1	2	2	1	3	3	3	3	2	2	1	1	2	2	3	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:140996136C>A	ENST00000285879.4	+	4	3232	c.2946C>A	c.(2944-2946)ctC>ctA	p.L982L	MAGEC1_ENST00000406005.2_Silent_p.L49L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	982	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CATTAGACCTCACCTCTGAGG	0.473										HNSCC(15;0.026)			70	127					2.23852e-25	8.07757e-25	1	0	A	140996136	C	A	140996136	2	1	219	1	0	0	0	0	0	0	0	1	9249	813	29	2		2	MAGEC1	23	140996136	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	454	140996136	14274424	380	39209											
SPANXN2	494119	broad.mit.edu	37	chrX	142803752	142803752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccattggtgcttgaagtcGgctgttccatgattctgctt	5	15	10	11	1	1	2	0	2	1	0	3	2	2	2	3	2	2	4	3	2	1	5			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:142803752G>T	ENST00000370498.1	-	1	764	c.11C>A	c.(10-12)cCg>cAg	p.P4Q		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	4										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGAAGTCGGCTGTTCCAT	0.448													76	154					1.20873e-29	4.52519e-29	1	0	T	142803752	G	T	142803752	3	4	219	1	0	0	0	0	1	0	0	0	15081	1116	39	3	539	3	SPANXN2	23	142803752	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	1807616	142803752	12466808	381	39210											
SLITRK2	84631	broad.mit.edu	37	chrX	144906246	144906246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtcaaggaacttcccaGcgcaggcctagtccactata	11	7	10	13	2	1	0	1	0	0	0	3	2	3	1	3	2	2	1	3	2	5	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:144906246G>T	ENST00000370490.1	+	1	6558	c.2303G>T	c.(2302-2304)aGc>aTc	p.S768I	SLITRK2_ENST00000428560.2_Missense_Mutation_p.S768I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S768I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S768I|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S768I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	768						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GAACTTCCCAGCGCAGGCCTA	0.463													77	132					3.4779e-39	1.34404e-38	1	0	T	144906246	G	T	144906246	3	4	219	1	0	0	0	0	1	0	0	0	14831	971	34	4	2305	4	SLITRK2	23	144906246	Missense_Mutation	SNP	G	TCGA-CR-7398-01A-11D-2012-08	2102494	144906246	10364314	382	39211											
GPR50	9248	broad.mit.edu	37	chrX	150348250	150348250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatgtttttcaggcaacatCttcgtggtcagtctctctgt	7	17	8	9	1	5	0	2	0	3	0	7	0	5	0	0	2	1	2	0	2	2	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:150348250C>G	ENST00000218316.3	+	2	264	c.195C>G	c.(193-195)atC>atG	p.I65M		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	65					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCAACATCTTCGTGGTCA	0.488													152	317					0	0	0	0	G	150348250	C	G	150348250	3	3	219	1	0	0	0	0	1	0	0	0	6746	903	32	2	201	2	GPR50	23	150348250	Missense_Mutation	SNP	C	TCGA-CR-7398-01A-11D-2012-08	5442004	150348250	4922310	383	39212											
PASD1	139135	broad.mit.edu	37	chrX	150780162	150780162	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatggctttatgattacactGagcacagatggagtgatcat	12	12	11	6	0	1	4	1	3	0	1	1	6	1	5	0	2	2	2	0	2	2	3			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:150780162G>C	ENST00000370357.4	+	4	389	c.144G>C	c.(142-144)ctG>ctC	p.L48L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	48	PAS.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGATTACACTGAGCACAGATG	0.318													14	75					0	0	0	0	C	150780162	G	C	150780162	2	2	219	1	0	0	0	0	0	0	0	1	11542	1277	45	2		2	PASD1	23	150780162	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	431912	150780162	4490398	384	39213											
PASD1	139135	broad.mit.edu	37	chrX	150791486	150791486	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgttcctcaggaggatCggctttatcttgtgggaaat	8	14	12	7	1	2	0	1	0	1	0	4	3	3	3	1	4	0	2	1	4	2	4			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:150791486C>A	ENST00000370357.4	+	7	741	c.496C>A	c.(496-498)Cgg>Agg	p.R166R		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	166						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGAGGATCGGCTTTATCT	0.502													63	104					2.53126e-37	9.75065e-37	1	0	A	150791486	C	A	150791486	2	1	219	1	0	0	0	0	0	0	0	1	11542	875	31	3		3	PASD1	23	150791486	Silent	SNP	C	TCGA-CR-7398-01A-11D-2012-08	11324	150791486	4479074	385	39214											
PASD1	139135	broad.mit.edu	37	chrX	150840134	150840134	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caacagaaacaacacgctggGcaagtgaagcggcctctccc	13	4	10	14	2	1	2	0	1	1	1	2	2	1	2	2	2	4	2	2	2	5	0			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:150840134G>T	ENST00000370357.4	+	13	1565	c.1320G>T	c.(1318-1320)ggG>ggT	p.G440G		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	440						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AACACGCTGGGCAAGTGAAGC	0.493													64	79					1.88225e-35	7.20428e-35	1	0	T	150840134	G	T	150840134	2	4	219	1	0	0	0	0	0	0	0	1	11542	1190	42	4		4	PASD1	23	150840134	Silent	SNP	G	TCGA-CR-7398-01A-11D-2012-08	48648	150840134	4430426	386	39215											
PANK4	55229	broad.mit.edu	37	chr1	2452658	2452658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgaagtccaggcaggcttCgatgtaggtattctcaaact	11	11	11	8	1	1	1	1	1	1	0	4	3	2	1	1	3	1	4	1	3	4	4	rs140699365	by1000genomes	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:2452658C>T	ENST00000378466.3	-	3	316	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	PANK4_ENST00000435556.3_Missense_Mutation_p.E102K	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	102					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGGCAGGCTTCGATGTAGGTA	0.507													39	104					0	0	0	0	T	2452658	C	T	2452658	3	4	220	1	0	0	0	0	1	0	0	0	11490	893	31	1	2085	1	PANK4	1	2452658	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08		2452658	246797963	1	39216											
NBPF1	55672	broad.mit.edu	37	chr1	16913608	16913608	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctctgtctacaaccagagTtgagttgactttgtcttcct	7	17	7	10	0	3	3	0	2	3	1	5	3	4	3	2	0	2	2	2	0	2	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:16913608T>C	ENST00000430580.2	-	11	1602	c.715A>G	c.(715-717)Act>Gct	p.T239A		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	239	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACAACCAGAGTTGAGTTGACT	0.448													4	68					0	0	0	0	C	16913608	T	C	16913608	3	2	220	1	0	0	0	0	1	0	0	0	10262	1725	60	5	2785	5	NBPF1	1	16913608	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	14460950	16913608	232337013	2	39217											
CNKSR1	10256	broad.mit.edu	37	chr1	26510922	26510922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttggccctgagcccctgcCcatccccccggaacccccag	5	5	8	23	1	0	1	0	1	0	0	1	2	1	2	10	2	3	0	10	2	1	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:26510922C>T	ENST00000531191.1	+	11	1264	c.257C>T	c.(256-258)cCc>cTc	p.P86L	CNKSR1_ENST00000361530.6_Missense_Mutation_p.P344L|CNKSR1_ENST00000374253.5_Missense_Mutation_p.P351L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	351	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCCCTGCCCATCCCCCCG	0.637													6	21					0	0	0	0	T	26510922	C	T	26510922	3	4	220	1	0	0	0	0	1	0	0	0	3636	623	22	4	1077	4	CNKSR1	1	26510922	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	9597314	26510922	222739699	3	39218											
TXLNA	200081	broad.mit.edu	37	chr1	32660790	32660790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagagcccacctccgccagGgcctagagagcctggtgttg	8	6	13	14	1	0	2	0	0	0	2	1	3	1	2	6	2	2	1	6	2	2	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:32660790G>T	ENST00000373609.1	+	10	1916	c.1635G>T	c.(1633-1635)agG>agT	p.R545S	TXLNA_ENST00000373610.3_Missense_Mutation_p.R545S			P40222	TXLNA_HUMAN	taxilin alpha	545					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCTCCGCCAGGGCCTAGAGAG	0.647													18	28					6.94344e-10	1.85882e-09	1	0	T	32660790	G	T	32660790	3	4	220	1	0	0	0	0	1	0	0	0	16883	1223	43	4	1673	4	TXLNA	1	32660790	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	6149868	32660790	216589831	4	39219											
CSMD2	114784	broad.mit.edu	37	chr1	34204749	34204749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctcgtaccttcacacCgcagcacagcgctgttccag	8	7	10	16	3	1	0	1	0	0	0	3	0	2	0	3	1	3	7	3	1	1	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:34204749C>T	ENST00000373381.4	-	15	2536	c.2360G>A	c.(2359-2361)cGg>cAg	p.R787Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	747	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCTTCACACCGCAGCACAGC	0.617													8	16					0	0	0	0	T	34204749	C	T	34204749	3	4	220	1	0	0	0	0	1	0	0	0	3977	652	23	1	8443	1	CSMD2	1	34204749	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	1543959	34204749	215045872	5	39220											
POU3F1	5453	broad.mit.edu	37	chr1	38511546	38511546	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgaagcggcagatggtggtCtgcgagaacacgttaccgta	10	8	14	9	5	1	2	0	0	1	2	2	4	1	2	1	3	4	3	1	3	4	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:38511546C>G	ENST00000373012.2	-	1	904	c.870G>C	c.(868-870)caG>caC	p.Q290H		NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	290	POU-specific.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGATGGTGGTCTGCGAGAACA	0.612													15	67					0	0	0	0	G	38511546	C	G	38511546	3	3	220	1	0	0	0	0	1	0	0	0	12345	912	32	2	489	2	POU3F1	1	38511546	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	4306797	38511546	210739075	6	39221											
COL9A2	1298	broad.mit.edu	37	chr1	40767556	40767556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatcacccttctctccacGttttcctgtagacaaaaaag	11	12	6	12	1	2	1	1	0	1	1	5	2	4	2	3	1	0	2	3	1	4	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:40767556G>A	ENST00000372748.3	-	31	1894	c.1798C>T	c.(1798-1800)Cgt>Tgt	p.R600C	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	600	Triple-helical region 2 (COL2).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TTCTCTCCACGTTTTCCTGTA	0.488													5	18					0	0	0	0	A	40767556	G	A	40767556	3	1	220	1	0	0	0	0	1	0	0	0	3738	1145	40	1	279	1	COL9A2	1	40767556	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2256010	40767556	208483065	7	39222											
ROR1	4919	broad.mit.edu	37	chr1	64644143	64644143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagattgctggtttcattGgcccgccaatacctcagaac	9	10	9	13	1	2	2	2	0	0	2	2	2	2	2	4	2	3	2	4	2	3	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:64644143G>T	ENST00000371079.1	+	9	2794	c.2419G>T	c.(2419-2421)Ggc>Tgc	p.G807C	ROR1_ENST00000545203.1_Missense_Mutation_p.G258C	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	807	Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TGGTTTCATTGGCCCGCCAAT	0.517													15	38					4.14922e-12	1.16329e-11	1	0	T	64644143	G	T	64644143	3	4	220	1	0	0	0	0	1	0	0	0	13611	1348	47	4	2461	4	ROR1	1	64644143	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	23876587	64644143	184606478	8	39223											
LRRC7	57554	broad.mit.edu	37	chr1	70460276	70460276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactaacaactctaaaagtaGatgacaatcaacttacaatg	20	9	4	8	0	2	2	1	1	1	1	2	2	2	2	0	0	5	1	0	0	10	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:70460276G>A	ENST00000310961.5	+	12	1283	c.865G>A	c.(865-867)Gat>Aat	p.D289N	LRRC7_ENST00000415775.2_De_novo_Start_InFrame|LRRC7_ENST00000035383.5_Missense_Mutation_p.D284N			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	284						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTAAAAGTAGATGACAATCA	0.328													14	64					0	0	0	0	A	70460276	G	A	70460276	3	1	220	1	0	0	0	0	1	0	0	0	9084	942	33	2	884	2	LRRC7	1	70460276	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	5816133	70460276	178790345	9	39224											
FAM73A	374986	broad.mit.edu	37	chr1	78324717	78324717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgcatttagttgaagaagGaaaaatttactccagagtac	16	11	8	6	0	0	3	0	1	0	2	1	4	1	4	1	1	3	3	1	1	7	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:78324717G>T	ENST00000370791.3	+	9	1123	c.1091G>T	c.(1090-1092)gGa>gTa	p.G364V	FAM73A_ENST00000443751.2_Missense_Mutation_p.G326V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	364						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GTTGAAGAAGGAAAAATTTAC	0.383													6	35					3.59834e-05	8.23239e-05	1	0	T	78324717	G	T	78324717	3	4	220	1	0	0	0	0	1	0	0	0	5663	1174	41	2	1125	2	FAM73A	1	78324717	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	7864441	78324717	170925904	10	39225											
F3	2152	broad.mit.edu	37	chr1	94997876	94997876	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggctggcagagccactcaCctctgaattcccctttctcc	7	11	7	16	0	3	2	1	1	2	1	5	2	4	2	5	2	1	2	5	2	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:94997876C>T	ENST00000334047.7	-	5	915		c.e5+1		F3_ENST00000370207.4_Intron	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)						activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GAGCCACTCACCTCTGAATTC	0.542													16	54					0	0	0	0	T	94997876	C	T	94997876	5	4	220	1	0	0	0	0	0	0	1	0	5385	521	18	4	143	4	F3	1	94997876	Splice_Site	SNP	C	TCGA-CR-7399-01A-11D-2012-08	16673159	94997876	154252745	11	39226											
F3	2152	broad.mit.edu	37	chr1	94997899	94997899	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaattcccctttctcctgGcccatacactctaccgggct	6	12	6	17	1	2	1	0	1	2	0	4	1	3	1	5	2	2	1	5	2	3	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:94997899G>T	ENST00000334047.7	-	5	892	c.729C>A	c.(727-729)ggC>ggA	p.G243G	F3_ENST00000370207.4_Intron	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	243					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CTTTCTCCTGGCCCATACACT	0.532													17	62					1.78486e-19	5.35459e-19	1	0	T	94997899	G	T	94997899	2	4	220	1	0	0	0	0	0	0	0	1	5385	1190	42	4		4	F3	1	94997899	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	23	94997899	154252722	12	39227											
IVL	3713	broad.mit.edu	37	chr1	152882573	152882573	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcatgaggaatatcagaaAgcagaaaacccagagcagca	19	3	10	9	0	1	4	1	1	0	3	1	5	1	5	1	1	5	4	1	1	5	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:152882573A>G	ENST00000368764.3	+	2	364	c.300A>G	c.(298-300)aaA>aaG	p.K100K	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	100					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATATCAGAAAGCAGAAAACC	0.493													16	32					0	0	0	0	G	152882573	A	G	152882573	2	3	220	1	0	0	0	0	0	0	0	1	7982	69	3	5		5	IVL	1	152882573	Silent	SNP	A	TCGA-CR-7399-01A-11D-2012-08	57884674	152882573	96368048	13	39228											
PEAR1	375033	broad.mit.edu	37	chr1	156882415	156882415	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgcaccttgcaggattgGtgagttctttgccctctcct	4	15	11	11	0	2	1	0	1	2	0	3	2	2	2	3	3	3	3	3	3	0	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:156882415G>T	ENST00000338302.3	+	18	2434		c.e18+1		PEAR1_ENST00000292357.7_Splice_Site			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1							integral to membrane				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)					TGCAGGATTGGTGAGTTCTTT	0.602													37	36					4.62619e-21	1.39874e-20	1	0	T	156882415	G	T	156882415	5	4	220	1	0	0	0	0	0	0	1	0	11783	1275	44	4	2272	4	PEAR1	1	156882415	Splice_Site	SNP	G	TCGA-CR-7399-01A-11D-2012-08	3999842	156882415	92368206	14	39229											
SPTA1	6708	broad.mit.edu	37	chr1	158641851	158641851	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacccctcccgttacctCttgtctactcatccaactgt	7	13	5	16	1	3	0	1	0	2	0	5	1	5	1	5	1	3	1	5	1	3	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:158641851C>A	ENST00000368148.3	-	11	1666	c.1486G>T	c.(1486-1488)Gag>Tag	p.E496*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.E496*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	496					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCGTTACCTCTTGTCTACTC	0.493													40	47					3.7052e-28	1.1519e-27	1	0	A	158641851	C	A	158641851	4	1	220	1	0	0	0	0	0	1	0	0	15206	922	32	2	5941	2	SPTA1	1	158641851	Nonsense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	1759436	158641851	90608770	15	39230											
LRRC52	440699	broad.mit.edu	37	chr1	165532977	165532977	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagtgaagaagatgaggaCgaggccgggactagggtgga	12	5	19	5	3	0	4	0	2	0	2	1	9	0	7	1	5	0	0	1	5	3	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:165532977C>T	ENST00000294818.1	+	2	1148	c.858C>T	c.(856-858)gaC>gaT	p.D286D	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	286						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)					AAGATGAGGACGAGGCCGGGA	0.572													5	50					0	0	0	0	T	165532977	C	T	165532977	2	4	220	1	0	0	0	0	0	0	0	1	9074	535	19	1		1	LRRC52	1	165532977	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	6891126	165532977	83717644	16	39231											
SELP	6403	broad.mit.edu	37	chr1	169565302	169565302	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcccggatgatgcctacaGtacatggttccctgcccagg	7	10	11	13	1	0	1	0	1	0	0	2	2	2	2	4	3	4	3	4	3	2	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:169565302G>T	ENST00000263686.6	-	12	1999	c.1962C>A	c.(1960-1962)taC>taA	p.Y654*	SELP_ENST00000367788.2_Nonsense_Mutation_p.Y592*|SELP_ENST00000367786.2_Nonsense_Mutation_p.Y592*|SELP_ENST00000367791.2_Nonsense_Mutation_p.Y468*|SELP_ENST00000458599.2_Nonsense_Mutation_p.Y470*|SELP_ENST00000367792.2_Nonsense_Mutation_p.Y470*|SELP_ENST00000367794.2_Nonsense_Mutation_p.Y592*|SELP_ENST00000367793.2_Nonsense_Mutation_p.Y592*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	654	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.Y654Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GATGCCTACAGTACATGGTTC	0.498													61	238					5.10652e-33	1.59398e-32	1	0	T	169565302	G	T	169565302	4	4	220	1	0	0	0	0	0	1	0	0	14106	1024	36	4	550	4	SELP	1	169565302	Nonsense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	4032325	169565302	79685319	17	39232											
SELP	6403	broad.mit.edu	37	chr1	169572435	169572435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attctgagggcttagcaaagGtgtgcagggaatggctatca	11	10	14	6	0	2	1	1	1	1	0	2	2	2	2	0	4	2	4	0	4	4	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:169572435G>T	ENST00000263686.6	-	10	1571	c.1534C>A	c.(1534-1536)Cct>Act	p.P512T	SELP_ENST00000367788.2_Missense_Mutation_p.P450T|SELP_ENST00000367786.2_Missense_Mutation_p.P450T|SELP_ENST00000367791.2_Missense_Mutation_p.P388T|SELP_ENST00000458599.2_Intron|SELP_ENST00000367792.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.P450T|SELP_ENST00000367793.2_Missense_Mutation_p.P450T	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	512	Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CTTAGCAAAGGTGTGCAGGGA	0.433													42	68					2.24722e-20	6.768e-20	1	0	T	169572435	G	T	169572435	3	4	220	1	0	0	0	0	1	0	0	0	14106	1261	44	4	986	4	SELP	1	169572435	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	7133	169572435	79678186	18	39233											
VASH2	79805	broad.mit.edu	37	chr1	213134597	213134597	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattacatgaagaccctacaGtatccttccaaccaaggtct	14	10	5	12	0	1	2	0	1	1	1	3	2	3	2	4	1	3	1	4	1	7	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:213134597G>T	ENST00000366968.4	+	4	520		c.e4+1		VASH2_ENST00000366964.3_Splice_Site|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366966.2_Splice_Site|VASH2_ENST00000366967.2_Splice_Site|VASH2_ENST00000366965.2_Splice_Site|VASH2_ENST00000517399.1_Splice_Site	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2						positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		AGACCCTACAGTATCCTTCCA	0.537													46	89					7.05121e-23	2.15734e-22	1	0	T	213134597	G	T	213134597	5	4	220	1	0	0	0	0	0	0	1	0	17222	1043	36	4	372	4	VASH2	1	213134597	Splice_Site	SNP	G	TCGA-CR-7399-01A-11D-2012-08	43562162	213134597	36116024	19	39234											
SMYD2	56950	broad.mit.edu	37	chr1	214488115	214488115	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttcccagaaagaagattGgcccatgcacaagctggaat	14	8	9	10	0	1	3	0	0	1	3	2	4	2	4	2	2	2	2	2	2	4	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:214488115G>A	ENST00000366957.5	+	3	270	c.248G>A	c.(247-249)tGg>tAg	p.W83*	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Nonsense_Mutation_p.W83*	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	83					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		AAAGAAGATTGGCCCATGCAC	0.428													10	52					0	0	0	0	A	214488115	G	A	214488115	4	1	220	1	0	0	0	0	0	1	0	0	14910	1357	47	4	258	4	SMYD2	1	214488115	Nonsense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	1353518	214488115	34762506	20	39235											
USH2A	7399	broad.mit.edu	37	chr1	215987092	215987092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctggtagaattctaGcgtaatacccagagcagcac	12	8	8	13	1	2	2	1	0	1	2	2	2	2	2	3	1	4	4	3	1	5	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:215987092G>C	ENST00000366943.2	-	49	10111	c.9725C>G	c.(9724-9726)gCt>gGt	p.A3242G	USH2A_ENST00000307340.3_Missense_Mutation_p.A3242G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3242					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGAATTCTAGCGTAATACCC	0.418										HNSCC(13;0.011)			13	60					0	0	0	0	C	215987092	G	C	215987092	3	2	220	1	0	0	0	0	1	0	0	0	17132	971	34	4	5979	4	USH2A	1	215987092	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	1498977	215987092	33263529	21	39236											
USH2A	7399	broad.mit.edu	37	chr1	216595476	216595476	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagcagcagcagagctgTgacaaaaagtgcttcggtct	11	10	11	9	1	2	2	1	1	1	1	3	2	2	2	0	1	5	5	0	1	2	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:216595476T>A	ENST00000366943.2	-	2	589	c.203A>T	c.(202-204)cAc>cTc	p.H68L	USH2A_ENST00000366942.3_Missense_Mutation_p.H68L|USH2A_ENST00000307340.3_Missense_Mutation_p.H68L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	68					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCAGAGCTGTGACAAAAAGT	0.493										HNSCC(13;0.011)			21	26					0	0	0	0	A	216595476	T	A	216595476	3	1	220	1	0	0	0	0	1	0	0	0	17132	1696	59	5	15703	5	USH2A	1	216595476	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	608384	216595476	32655145	22	39237											
SLC30A10	55532	broad.mit.edu	37	chr1	220089179	220089179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcatcttgatatcccCtgtccttaggatacttgatg	7	15	9	10	0	1	2	0	2	1	0	3	3	3	3	3	2	2	2	3	2	3	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:220089179C>A	ENST00000366926.3	-	4	1231	c.1070G>T	c.(1069-1071)aGg>aTg	p.R357M	SLC30A10_ENST00000536446.1_Missense_Mutation_p.R112M|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	357					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TTGATATCCCCTGTCCTTAGG	0.453													19	99					3.51602e-12	9.89361e-12	1	0	A	220089179	C	A	220089179	3	1	220	1	0	0	0	0	1	0	0	0	14642	681	24	4	391	4	SLC30A10	1	220089179	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	3493703	220089179	29161442	23	39238											
HHIPL2	79802	broad.mit.edu	37	chr1	222721186	222721186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtgctgatcacagcagccGaaggactcatagtcagagca	12	8	11	10	1	3	2	3	1	0	1	3	4	3	3	1	1	4	3	1	1	2	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:222721186G>A	ENST00000343410.6	-	1	259	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	67					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CACAGCAGCCGAAGGACTCAT	0.567													8	43					0	0	0	0	A	222721186	G	A	222721186	2	1	220	1	0	0	0	0	0	0	0	1	7144	1049	37	1		1	HHIPL2	1	222721186	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2632007	222721186	26529435	24	39239											
URB2	9816	broad.mit.edu	37	chr1	229773042	229773042	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagagcagttggaaagcatCctggggcttttggaagtgat	10	10	16	5	0	0	2	0	1	0	1	1	5	1	4	1	5	2	4	1	5	2	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:229773042C>T	ENST00000258243.2	+	4	2818	c.2682C>T	c.(2680-2682)atC>atT	p.I894I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	894						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGGAAAGCATCCTGGGGCTTT	0.498													54	85					0	0	0	0	T	229773042	C	T	229773042	2	4	220	1	0	0	0	0	0	0	0	1	17121	845	30	2		2	URB2	1	229773042	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	7051856	229773042	19477579	25	39240											
HEATR1	55127	broad.mit.edu	37	chr1	236729217	236729217	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgacacccgatctacgcttAccttctttttcctctggcag	6	14	7	14	2	3	1	0	1	3	0	4	2	4	1	3	1	2	2	3	1	2	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:236729217A>T	ENST00000366582.3	-	31	4550		c.e31+1		HEATR1_ENST00000366581.2_Splice_Site	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCTACGCTTACCTTCTTTTT	0.383													17	46					0	0	0	0	T	236729217	A	T	236729217	5	4	220	1	0	0	0	0	0	0	1	0	7077	405	14	5	2057	5	HEATR1	1	236729217	Splice_Site	SNP	A	TCGA-CR-7399-01A-11D-2012-08	6956175	236729217	12521404	26	39241											
RYR2	6262	broad.mit.edu	37	chr1	237777666	237777666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgagaacaaaaaacaCggccttccagggatcggcct	13	6	10	12	2	0	2	0	2	0	1	2	4	1	3	4	3	2	0	4	3	4	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:237777666C>A	ENST00000366574.2	+	37	5555	c.5238C>A	c.(5236-5238)caC>caA	p.H1746Q	RYR2_ENST00000360064.6_Missense_Mutation_p.H1744Q|RYR2_ENST00000542537.1_Missense_Mutation_p.H1730Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1746	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAAAAAACACGGCCTTCCAG	0.517													12	38					3.07112e-06	7.37642e-06	1	0	A	237777666	C	A	237777666	3	1	220	1	0	0	0	0	1	0	0	0	13854	535	19	3	5384	3	RYR2	1	237777666	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	1048449	237777666	11472955	27	39242											
FMN2	56776	broad.mit.edu	37	chr1	240371390	240371390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccacctccccctctacccgGagcgggcataccccctccgc	5	5	7	24	3	1	0	0	0	1	0	3	1	3	1	8	2	3	1	8	2	2	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:240371390G>T	ENST00000319653.9	+	5	3508	c.3278G>T	c.(3277-3279)gGa>gTa	p.G1093V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1093	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCTACCCGGAGCGGGCATA	0.726													5	22					0.00198382	0.00416764	1	0	T	240371390	G	T	240371390	3	4	220	1	0	0	0	0	1	0	0	0	5995	1174	41	2	3296	2	FMN2	1	240371390	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2593724	240371390	8879231	28	39243											
CEP170	9859	broad.mit.edu	37	chr1	243349134	243349134	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttgggattctctaactCaatggtataagtacccttgt	10	15	8	8	0	2	0	1	0	1	0	3	1	2	1	1	2	2	3	1	2	5	7			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:243349134C>A	ENST00000366542.1	-	10	1564	c.1513G>T	c.(1513-1515)Gag>Tag	p.E505*	CEP170_ENST00000366543.1_Intron|CEP170_ENST00000366544.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	505						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTCTCTAACTCAATGGTATAA	0.353													24	107					9.78306e-22	2.98132e-21	1	0	A	243349134	C	A	243349134	4	1	220	1	0	0	0	0	0	1	0	0	3279	835	29	2	3315	2	CEP170	1	243349134	Nonsense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	2977744	243349134	5901487	29	39244											
KIF26B	55083	broad.mit.edu	37	chr1	245849896	245849896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagcggggtcctggacaGcggccgccccaccagcatca	8	4	12	17	3	2	0	2	0	0	0	3	1	3	1	5	4	3	1	5	4	0	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:245849896G>A	ENST00000366518.4	+	9	2572	c.2468G>A	c.(2467-2469)aGc>aAc	p.S823N	KIF26B_ENST00000407071.2_Missense_Mutation_p.S1204N			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1204					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GTCCTGGACAGCGGCCGCCCC	0.657													4	13					0	0	0	0	A	245849896	G	A	245849896	3	1	220	1	0	0	0	0	1	0	0	0	8346	971	34	4	3657	4	KIF26B	1	245849896	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2500762	245849896	3400725	30	39245											
NLRP3	114548	broad.mit.edu	37	chr1	247599410	247599410	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattttatgtgaaaaagcCaagaatccacagtgtaacct	16	10	7	8	0	0	2	0	1	0	1	1	2	1	2	3	0	2	2	3	0	7	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:247599410C>A	ENST00000336119.3	+	6	3383	c.2637C>A	c.(2635-2637)gcC>gcA	p.A879A	NLRP3_ENST00000391827.2_Silent_p.A822A|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000391828.3_Silent_p.A879A	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	879					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAAAAAGCCAAGAATCCAC	0.438													17	29					6.94344e-10	1.85882e-09	1	0	A	247599410	C	A	247599410	2	1	220	1	0	0	0	0	0	0	0	1	10548	581	21	4		4	NLRP3	1	247599410	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	1749514	247599410	1651211	31	39246											
OR2M4	26245	broad.mit.edu	37	chr1	248402450	248402450	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttatggacctcatgctcAtctgcaccactctacccaag	9	10	5	17	0	4	0	2	0	2	0	4	1	4	1	4	1	3	2	4	1	3	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:248402450A>T	ENST00000306687.1	+	1	220	c.220A>T	c.(220-222)Atc>Ttc	p.I74F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I74F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTCATGCTCATCTGCACCAC	0.458													18	86					0	0	0	0	T	248402450	A	T	248402450	3	4	220	1	0	0	0	0	1	0	0	0	11083	217	8	5	222	5	OR2M4	1	248402450	Missense_Mutation	SNP	A	TCGA-CR-7399-01A-11D-2012-08	803040	248402450	848171	32	39247											
OR2T6	254879	broad.mit.edu	37	chr1	248551255	248551255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctgaattcttcctgctgGggctcatggcctatgaccgc	5	11	13	12	1	2	2	1	2	1	0	3	2	3	2	3	4	1	3	3	4	2	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:248551255G>C	ENST00000355728.2	+	1	346	c.346G>C	c.(346-348)Ggg>Cgg	p.G116R		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G116R(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTCCTGCTGGGGCTCATGGC	0.567													18	62					0	0	0	0	C	248551255	G	C	248551255	3	2	220	1	0	0	0	0	1	0	0	0	11100	1232	43	4	348	4	OR2T6	1	248551255	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	148805	248551255	699366	33	39248											
SDC1	6382	broad.mit.edu	37	chr2	20402571	20402571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcttctggtaggcccCgccgttggcttgtttcggct	1	13	16	11	3	1	0	0	0	1	0	2	0	1	0	3	6	0	6	3	6	1	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:20402571C>A	ENST00000381150.1	-	6	1279	c.889G>T	c.(889-891)Ggg>Tgg	p.G297W	SDC1_ENST00000403076.1_Intron|SDC1_ENST00000254351.4_Missense_Mutation_p.G297W|SDC1_ENST00000482879.1_Intron	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	297					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TGGTAGGCCCCGCCGTTGGCT	0.602													7	253					0.00198382	0.00416764	1	0	A	20402571	C	A	20402571	3	1	220	1	0	0	0	0	1	0	0	0	14038	652	23	3	47	3	SDC1	2	20402571	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08		20402571	222796802	34	39249											
C2orf44	80304	broad.mit.edu	37	chr2	24253907	24253908	+	Frame_Shift_Del	DEL	AA	AA	-																															aacagcacctggactgtgagAaaaagagtctctgaagacat																										TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:24253907_24253908delAA	ENST00000295148.4	-	4	2118_2119	c.2061_2062delTT	c.(2059-2064)ttctfs	p.FS687fs	C2orf44_ENST00000406895.3_3'UTR	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	687							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTGTGAGAAAAAGAGTCTC	0.475			T	ALK	NSCLC								9	105	---	---	---	---					-	24253908	AA	-	24253907	7	5	220	1	0	1	0	1	0	0	0	0	2188	246	9	0	107	0	C2orf44	2	24253907	Frame_Shift_Del	DEL	AA	TCGA-CR-7399-01A-11D-2012-08	3851336	24253907	218945466	35	39250											
DNMT3A	1788	broad.mit.edu	37	chr2	25469921	25469921	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagcagggacactcaccTgcaggacctcgtagatggct	9	7	11	14	1	1	1	1	0	0	1	3	3	2	3	3	3	2	4	3	3	1	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:25469921T>A	ENST00000264709.3	-	9	1458	c.1122_splice	c.e9+1	p.Q374_splice	DNMT3A_ENST00000321117.5_Splice_Site_p.Q374_splice|DNMT3A_ENST00000402667.1_Splice_Site_p.Q151_splice|DNMT3A_ENST00000380746.4_Splice_Site_p.Q185_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	374	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACACTCACCTGCAGGACCTC	0.602			"Mis, F, N, S"		AML								6	31					0	0	0	0	A	25469921	T	A	25469921	5	1	220	1	0	0	0	0	0	0	1	0	4712	1594	55	5	1677	5	DNMT3A	2	25469921	Splice_Site	SNP	T	TCGA-CR-7399-01A-11D-2012-08	1216014	25469921	217729452	36	39251											
GPR75	10936	broad.mit.edu	37	chr2	54081598	54081598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataacacaaaggtgaacatgGgggctgtcactccacaaatg	15	7	10	9	0	1	1	1	1	0	0	2	1	2	1	1	3	2	1	1	3	4	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:54081598G>A	ENST00000394705.2	-	2	566	c.296C>T	c.(295-297)cCc>cTc	p.P99L	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	99	Phe-rich.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTGAACATGGGGGCTGTCAC	0.458													7	95					0	0	0	0	A	54081598	G	A	54081598	3	1	220	1	0	0	0	0	1	0	0	0	6757	1232	43	4	1330	4	GPR75	2	54081598	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	28611677	54081598	189117775	37	39252											
PLEK	5341	broad.mit.edu	37	chr2	68613641	68613641	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcccatctaggtaactgCgtcattgattggctggtatc	7	14	11	9	1	2	1	1	1	1	0	4	1	3	1	1	4	2	3	1	4	3	5	rs151222226		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:68613641C>T	ENST00000234313.7	+	5	659	c.480C>T	c.(478-480)tgC>tgT	p.C160C		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	160	DEP.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TAGGTAACTGCGTCATTGATT	0.532													11	36					0	0	0	0	T	68613641	C	T	68613641	2	4	220	1	0	0	0	0	0	0	0	1	12125	776	27	1		1	PLEK	2	68613641	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	14532043	68613641	174585732	38	39253											
C2orf78	388960	broad.mit.edu	37	chr2	74043891	74043891	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcaaaatcaatttctaatCcaagacttcagcctccaacc	14	10	2	15	0	4	1	3	0	1	1	6	1	6	1	5	0	2	0	5	0	6	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:74043891C>A	ENST00000409561.1	+	3	2662	c.2541C>A	c.(2539-2541)atC>atA	p.I847I		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	847										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AATTTCTAATCCAAGACTTCA	0.527													20	79					0.000132079	0.000295168	1	0	A	74043891	C	A	74043891	2	1	220	1	0	0	0	0	0	0	0	1	2215	845	30	2		2	C2orf78	2	74043891	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	5430250	74043891	169155482	39	39254											
LRRTM4	80059	broad.mit.edu	37	chr2	77746278	77746278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctaatggagcgaatcctGttccattgtaagtaaattga	12	13	10	6	1	0	1	0	1	0	0	2	3	2	2	2	2	1	4	2	2	5	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:77746278G>T	ENST00000409088.3	-	3	1131	c.717C>A	c.(715-717)aaC>aaA	p.N239K	LRRTM4_ENST00000409911.1_Missense_Mutation_p.N240K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.N239K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.N240K|LRRTM4_ENST00000409093.1_Missense_Mutation_p.N239K	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	239						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGCGAATCCTGTTCCATTGTA	0.448													3	20					0.004672	0.00973544	1	0	T	77746278	G	T	77746278	3	4	220	1	0	0	0	0	1	0	0	0	9106	1368	48	4	1069	4	LRRTM4	2	77746278	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	3702387	77746278	165453095	40	39255											
CTNNA2	1496	broad.mit.edu	37	chr2	80101253	80101253	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcagccgcccgaggggctCtgaagaagaatgccacaatg	11	5	14	11	2	1	3	0	1	1	2	1	4	1	3	3	3	2	2	3	3	4	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:80101253C>G	ENST00000466387.1	+	10	1361	c.637C>G	c.(637-639)Ctg>Gtg	p.L213V	CTNNA2_ENST00000402739.4_Missense_Mutation_p.L213V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L213V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L213V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.L247V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.L213V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	213					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCGAGGGGCTCTGAAGAAGAA	0.517													13	35					0	0	0	0	G	80101253	C	G	80101253	3	3	220	1	0	0	0	0	1	0	0	0	4045	912	32	2	655	2	CTNNA2	2	80101253	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	2354975	80101253	163098120	41	39256											
LRRTM1	347730	broad.mit.edu	37	chr2	80529767	80529767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccccgccgtccgcgagcGtggtggccgagctggcaggg	3	5	17	16	6	0	0	0	0	0	0	2	2	2	0	6	4	2	2	6	4	0	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:80529767G>T	ENST00000295057.3	-	2	1834	c.1178C>A	c.(1177-1179)aCg>aAg	p.T393K	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.T393K|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	393						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GTCCGCGAGCGTGGTGGCCGA	0.716										HNSCC(69;0.2)			11	32					1.5842e-08	4.07139e-08	1	0	T	80529767	G	T	80529767	3	4	220	1	0	0	0	0	1	0	0	0	9103	1145	40	3	394	3	LRRTM1	2	80529767	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	428514	80529767	162669606	42	39257											
CTNNA2	1496	broad.mit.edu	37	chr2	80540759	80540759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatgaagacttctgagatgCataccatgtctggagcacag	13	10	10	8	0	2	3	0	2	2	2	2	5	2	4	1	1	3	2	1	1	3	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:80540759C>A	ENST00000343114.3	+	1	256	c.73C>A	c.(73-75)Cat>Aat	p.H25N	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	0					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTCTGAGATGCATACCATGTC	0.438													6	9					3.59834e-05	8.23239e-05	1	0	A	80540759	C	A	80540759	3	1	220	1	0	0	0	0	1	0	0	0	4045	725	25	4		4	CTNNA2	2	80540759	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	10992	80540759	162658614	43	39258											
SLC9A2	6549	broad.mit.edu	37	chr2	103324786	103324786	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaagggcacccagacGtcaggcttactacagcagcc	14	4	11	12	1	1	2	1	0	0	2	1	3	1	2	2	2	4	3	2	2	4	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:103324786G>C	ENST00000233969.2	+	12	2419	c.2277G>C	c.(2275-2277)acG>acC	p.T759T		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	759						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCACCCAGACGTCAGGCTTAC	0.552													33	75					0	0	0	0	C	103324786	G	C	103324786	2	2	220	1	0	0	0	0	0	0	0	1	14800	1132	40	3		3	SLC9A2	2	103324786	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	22784027	103324786	139874587	44	39259											
CCDC138	165055	broad.mit.edu	37	chr2	109405345	109405345	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggagataaagttggttcAtcgttaaaatattctgatga	13	15	9	4	1	3	3	1	2	2	1	4	4	3	3	0	2	0	3	0	2	5	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:109405345A>T	ENST00000295124.4	+	3	249	c.189A>T	c.(187-189)tcA>tcT	p.S63S	CCDC138_ENST00000412964.2_Silent_p.S63S|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	63										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						AAGTTGGTTCATCGTTAAAAT	0.358													18	39					0	0	0	0	T	109405345	A	T	109405345	2	4	220	1	0	0	0	0	0	0	0	1	2797	204	8	5		5	CCDC138	2	109405345	Silent	SNP	A	TCGA-CR-7399-01A-11D-2012-08	6080559	109405345	133794028	45	39260											
BUB1	699	broad.mit.edu	37	chr2	111417591	111417591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccactctgtggcttgaattCatgagtactcttattcacac	9	15	6	11	0	4	2	2	2	2	0	5	2	5	2	1	1	1	2	1	1	3	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:111417591C>T	ENST00000535254.1	-	10	1247	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	BUB1_ENST00000409311.1_Missense_Mutation_p.E414K|BUB1_ENST00000302759.6_Missense_Mutation_p.E414K	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	414					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGCTTGAATTCATGAGTACTC	0.413													5	21					0	0	0	0	T	111417591	C	T	111417591	3	4	220	1	0	0	0	0	1	0	0	0	1579	835	29	2	2077	2	BUB1	2	111417591	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	2012246	111417591	131781782	46	39261											
DPP10	57628	broad.mit.edu	37	chr2	116497460	116497460	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaaaggaaagcagtatccGtatcctaaggtaagtaacat	16	8	8	9	1	0	0	0	0	0	0	2	1	2	1	3	2	2	5	3	2	7	5	rs146251151		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:116497460G>T	ENST00000410059.1	+	9	1323	c.843G>T	c.(841-843)ccG>ccT	p.P281P	DPP10_ENST00000310323.8_Silent_p.P274P|DPP10_ENST00000393147.2_Silent_p.P285P|DPP10_ENST00000409163.1_Silent_p.P231P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	281					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCAGTATCCGTATCCTAAGG	0.423													12	47					7.03913e-09	1.8335e-08	1	0	T	116497460	G	T	116497460	2	4	220	1	0	0	0	0	0	0	0	1	4763	1132	40	3		3	DPP10	2	116497460	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	5079869	116497460	126701913	47	39262											
INHBB	3625	broad.mit.edu	37	chr2	121107420	121107420	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagcgggacgtgcccaaCatgattgtggaggagtgcgg	9	7	17	8	3	1	1	1	1	0	0	1	4	1	4	1	4	4	0	1	4	2	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:121107420C>A	ENST00000295228.3	+	2	1240	c.1194C>A	c.(1192-1194)aaC>aaA	p.N398K		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	398					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				ACGTGCCCAACATGATTGTGG	0.632													3	19					2.56e-06	6.20679e-06	1	0	A	121107420	C	A	121107420	3	1	220	1	0	0	0	0	1	0	0	0	7795	477	17	4	1200	4	INHBB	2	121107420	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	4609960	121107420	122091953	48	39263											
LRP1B	53353	broad.mit.edu	37	chr2	141299381	141299381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attggcaacagctatgattcCcattggctgatgtggaatat	11	13	10	7	0	0	2	0	2	0	0	1	3	1	3	1	3	2	3	1	3	4	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:141299381C>T	ENST00000389484.3	-	44	8325	c.7354G>A	c.(7354-7356)Gga>Aga	p.G2452R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2452					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTATGATTCCCATTGGCTGA	0.378										TSP Lung(27;0.18)			15	57					0	0	0	0	T	141299381	C	T	141299381	3	4	220	1	0	0	0	0	1	0	0	0	9019	632	22	4	6637	4	LRP1B	2	141299381	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	20191961	141299381	101899992	49	39264											
KCNJ3	3760	broad.mit.edu	37	chr2	155555719	155555719	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgagacggaggccaccatCggctatggctaccgatacat	11	7	11	12	4	0	1	0	0	0	1	2	4	0	2	3	4	2	2	3	4	3	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:155555719C>A	ENST00000295101.2	+	1	909	c.432C>A	c.(430-432)atC>atA	p.I144I	KCNJ3_ENST00000544049.1_Silent_p.I144I	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	144					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGGCCACCATCGGCTATGGCT	0.557													8	35					1.12685e-05	2.64879e-05	1	0	A	155555719	C	A	155555719	2	1	220	1	0	0	0	0	0	0	0	1	8105	874	31	3		3	KCNJ3	2	155555719	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	14256338	155555719	87643654	50	39265											
ACVR1C	130399	broad.mit.edu	37	chr2	158406691	158406691	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacctttgttgtcagcagcaAtgaaaccaaggatgttttca	12	13	8	8	0	2	1	2	1	0	0	2	2	2	2	2	1	4	4	2	1	4	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:158406691A>G	ENST00000243349.7	-	4	1118	c.758T>C	c.(757-759)aTt>aCt	p.I253T	ACVR1C_ENST00000335450.7_Missense_Mutation_p.I173T|ACVR1C_ENST00000409680.3_Missense_Mutation_p.I203T|ACVR1C_ENST00000348328.5_Intron	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	253	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GTCAGCAGCAATGAAACCAAG	0.388													18	34					0	0	0	0	G	158406691	A	G	158406691	3	3	220	1	0	0	0	0	1	0	0	0	222	101	4	5	747	5	ACVR1C	2	158406691	Missense_Mutation	SNP	A	TCGA-CR-7399-01A-11D-2012-08	2850972	158406691	84792682	51	39266											
SLC38A11	151258	broad.mit.edu	37	chr2	165768172	165768172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcacaaagcattccatagGgtatgtcaaaatgacagtga	15	10	9	7	0	2	2	2	2	0	0	3	2	3	2	1	1	1	2	1	1	5	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:165768172G>T	ENST00000303735.4	-	8	1033	c.703C>A	c.(703-705)Cct>Act	p.P235T	SLC38A11_ENST00000409662.1_Missense_Mutation_p.P257T|SLC38A11_ENST00000409149.3_Missense_Mutation_p.P257T|SLC38A11_ENST00000409058.1_Missense_Mutation_p.P288T|SLC38A11_ENST00000493887.1_5'UTR	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	257					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CATTCCATAGGGTATGTCAAA	0.378													4	20					0.00024832	0.000545455	1	0	T	165768172	G	T	165768172	3	4	220	1	0	0	0	0	1	0	0	0	14691	1232	43	4	463	4	SLC38A11	2	165768172	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	7361481	165768172	77431201	52	39267											
TTN	7273	broad.mit.edu	37	chr2	179613245	179613245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccttggaactccagagctgGatctcctatatgagaataca	12	10	8	11	0	1	2	0	1	1	2	3	5	2	4	3	2	3	1	3	2	5	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:179613245G>T	ENST00000360870.5	-	46	14104	c.13882C>A	c.(13882-13884)Cca>Aca	p.P4628T	TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	742	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGAGCTGGATCTCCTATA	0.378													21	71					8.04996e-18	2.37798e-17	1	0	T	179613245	G	T	179613245	3	4	220	1	0	0	0	0	1	0	0	0	16831	1174	41	2	96415	2	TTN	2	179613245	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	13845073	179613245	63586128	53	39268											
TTN	7273	broad.mit.edu	37	chr2	179633515	179633515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtgagctttttggttctCatctggcacttgtcagttga	5	18	11	7	0	3	2	2	2	2	0	4	2	3	2	0	2	1	4	0	2	0	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:179633515C>T	ENST00000589042.1	-	38	9272	c.9048G>A	c.(9046-9048)atG>atA	p.M3016I	TTN_ENST00000591111.1_Missense_Mutation_p.M3016I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M2970I|TTN_ENST00000359218.5_Missense_Mutation_p.M2970I|TTN_ENST00000360870.5_Missense_Mutation_p.M3016I|TTN_ENST00000342992.6_Missense_Mutation_p.M3016I|TTN_ENST00000342175.6_Missense_Mutation_p.M2970I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2755	Ig-like 17.						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)			TTTTGGTTCTCATCTGGCACT	0.418													15	35					0	0	0	0	T	179633515	C	T	179633515	3	4	220	1	0	0	0	0	1	0	0	0	16831	826	29	2	102240	2	TTN	2	179633515	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	20270	179633515	63565858	54	39269											
COL5A2	1290	broad.mit.edu	37	chr2	189907465	189907465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgggccaaatggtccaGggattccagcacttccttgt	7	12	10	12	0	1	0	0	0	1	0	4	1	4	1	4	3	1	1	4	3	1	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:189907465G>A	ENST00000374866.3	-	49	3780	c.3506C>T	c.(3505-3507)cCt>cTt	p.P1169L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1169					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AAATGGTCCAGGGATTCCAGC	0.373													4	10					0	0	0	0	A	189907465	G	A	189907465	3	1	220	1	0	0	0	0	1	0	0	0	3727	1000	35	4	1017	4	COL5A2	2	189907465	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	10273950	189907465	53291908	55	39270											
STK17B	9262	broad.mit.edu	37	chr2	197021180	197021180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactattccaatatcaaaatGatttcacttgtattttcata	14	18	2	7	0	3	1	3	1	0	0	4	1	4	1	1	0	1	1	1	0	8	10			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:197021180G>C	ENST00000263955.4	-	3	604	c.318C>G	c.(316-318)atC>atG	p.I106M	STK17B_ENST00000409228.1_Missense_Mutation_p.I106M	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	106	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATATCAAAATGATTTCACTTG	0.313													6	11					0	0	0	0	C	197021180	G	C	197021180	3	2	220	1	0	0	0	0	1	0	0	0	15381	1280	45	2	824	2	STK17B	2	197021180	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	7113715	197021180	46178193	56	39271											
SMARCAL1	50485	broad.mit.edu	37	chr2	217279531	217279531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attggcagaacagcatcagaGgactagctcgggcacctcca	12	6	11	12	1	1	2	1	0	0	2	3	3	2	3	2	3	3	4	2	3	2	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:217279531G>A	ENST00000357276.4	+	3	434	c.104G>A	c.(103-105)aGg>aAg	p.R35K	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R35K	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	35					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CAGCATCAGAGGACTAGCTCG	0.522									Schimke Immuno-Osseous Dysplasia				30	94					0	0	0	0	A	217279531	G	A	217279531	3	1	220	1	0	0	0	0	1	0	0	0	14861	1000	35	4	106	4	SMARCAL1	2	217279531	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	20258351	217279531	25919842	57	39272											
SLC11A1	6556	broad.mit.edu	37	chr2	219257742	219257743	+	Frame_Shift_Ins	INS	-	-	CT																															ggtcacgcttcgcccgtgtcINSctcctcacccgctcctgcgc																										TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:219257742_219257743insCT	ENST00000233202.6	+	12	1543_1544	c.1203_1204insCT	c.(1201-1206)gttcctfs	p.P402fs	SLC11A1_ENST00000539932.1_Frame_Shift_Ins_p.P284fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	402					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGCCCGTGTCCTCCTCACCCG	0.634													10	42	---	---	---	---					CT	219257743	-	CT	219257742	7	5	220	1	0	1	1	0	0	0	0	0	14468	842	30	0	1249	0	SLC11A1	2	219257742	Frame_Shift_Ins	INS	-	TCGA-CR-7399-01A-11D-2012-08	1978211	219257742	23941631	58	39273											
SLC23A3	151295	broad.mit.edu	37	chr2	220034009	220034009	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagccccacccttacccCttgcccttgctctgtgctca	5	10	5	21	0	2	0	1	0	1	0	2	0	2	0	7	0	5	2	7	0	1	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:220034009C>G	ENST00000455516.2	-	3	487	c.440G>C	c.(439-441)aGg>aCg	p.R147T	SLC23A3_ENST00000295738.7_Intron|SLC23A3_ENST00000409878.3_Intron|SLC23A3_ENST00000396775.3_Intron	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	139					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCTTACCCCTTGCCCTTGC	0.567													26	53					0	0	0	0	G	220034009	C	G	220034009	3	3	220	1	0	0	0	0	1	0	0	0	14552	681	24	4	1456	4	SLC23A3	2	220034009	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	776267	220034009	23165364	59	39274											
COL4A4	1286	broad.mit.edu	37	chr2	227924220	227924220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcccaggtgaccaaatgcagGgtctcccgggattcctttct	7	11	10	13	1	2	1	0	1	2	0	5	2	4	2	4	3	1	1	4	3	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:227924220G>T	ENST00000396625.3	-	28	2491	c.2284C>A	c.(2284-2286)Cct>Act	p.P762T	COL4A4_ENST00000329662.7_Missense_Mutation_p.P762T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	762	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAAATGCAGGGTCTCCCGGG	0.612													24	70					2.89027e-11	7.93024e-11	1	0	T	227924220	G	T	227924220	3	4	220	1	0	0	0	0	1	0	0	0	3723	1232	43	4	2872	4	COL4A4	2	227924220	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	7890211	227924220	15275153	60	39275											
DIS3L2	129563	broad.mit.edu	37	chr2	233194619	233194619	+	Frame_Shift_Del	DEL	G	G	-																															ctgctgcgccggcaccccccGccccaaacaaggatgctcag																										TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:233194619delG	ENST00000325385.7	+	15	2112	c.1836delG	c.(1834-1836)ccfs	p.P613fs	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Frame_Shift_Del_p.P613fs	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	613							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GGCACCCCCCGCCCCAAACAA	0.652													11	41	---	---	---	---					-	233194619	G	-	233194619	7	5	220	1	0	1	0	1	0	0	0	0	4574	1074	38	0	1890	0	DIS3L2	2	233194619	Frame_Shift_Del	DEL	G	TCGA-CR-7399-01A-11D-2012-08	5270399	233194619	10004754	61	39276											
CNTN6	27255	broad.mit.edu	37	chr3	1269678	1269678	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaagctccaatttgcatGtgagtttggggtaaattttg	10	14	12	5	0	0	1	0	1	0	0	1	1	1	1	1	3	2	5	1	3	4	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:1269678G>T	ENST00000446702.2	+	4	985		c.e4+1		CNTN6_ENST00000350110.2_Splice_Site|CNTN6_ENST00000539053.1_Splice_Site			Q9UQ52	CNTN6_HUMAN	contactin 6						axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAATTTGCATGTGAGTTTGGG	0.383													28	95					7.63215e-27	2.35376e-26	1	0	T	1269678	G	T	1269678	5	4	220	1	0	0	0	0	0	0	1	0	3675	1391	48	4	369	4	CNTN6	3	1269678	Splice_Site	SNP	G	TCGA-CR-7399-01A-11D-2012-08		1269678	196752752	62	39277											
LRRN1	57633	broad.mit.edu	37	chr3	3888298	3888298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgccaaaagatttaagaGaaaaaactaccaccactcat	18	9	4	10	0	1	2	1	0	0	2	1	3	1	2	3	0	3	0	3	0	7	4	rs75344244		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:3888298G>A	ENST00000319331.3	+	2	2734	c.1973G>A	c.(1972-1974)aGa>aAa	p.R658K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	658						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AGATTTAAGAGAAAAAACTAC	0.423													19	60					0	0	0	0	A	3888298	G	A	3888298	3	1	220	1	0	0	0	0	1	0	0	0	9098	942	33	2	1975	2	LRRN1	3	3888298	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2618620	3888298	194134132	63	39278											
ARPC4	10093	broad.mit.edu	37	chr3	9841894	9841894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaaagagctcctgttacaaCctgtgaccatcagcaggaat	13	8	9	11	0	1	2	1	1	0	1	2	3	2	3	3	1	4	4	3	1	4	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:9841894C>T	ENST00000397261.3	+	3	712	c.148C>T	c.(148-150)Cct>Tct	p.P50S	ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P50S|ARPC4_ENST00000287613.7_5'UTR|ARPC4_ENST00000498623.2_5'UTR|ARPC4_ENST00000433034.1_Missense_Mutation_p.P69S	NM_005718.4	NP_005709.1			actin related protein 2/3 complex, subunit 4, 20kDa											breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					CCTGTTACAACCTGTGACCAT	0.478													11	44					0	0	0	0	T	9841894	C	T	9841894	3	4	220	1	0	0	0	0	1	0	0	0	977	507	18	4	158	4	ARPC4	3	9841894	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	5953596	9841894	188180536	64	39279											
STAC	6769	broad.mit.edu	37	chr3	36570191	36570191	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcttcattttaggccAggagacataattactctttt	10	18	5	8	0	4	1	2	0	2	1	4	2	4	1	1	2	1	0	1	2	3	9			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:36570191A>T	ENST00000273183.3	+	9	1224	c.924A>T	c.(922-924)ccA>ccT	p.P308P	STAC_ENST00000457375.2_Silent_p.P247P	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	308	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						ATTTTAGGCCAGGAGACATAA	0.294													5	14					0	0	0	0	T	36570191	A	T	36570191	2	4	220	1	0	0	0	0	0	0	0	1	15329	175	7	5		5	STAC	3	36570191	Silent	SNP	A	TCGA-CR-7399-01A-11D-2012-08	26728297	36570191	161452239	65	39280											
XIRP1	165904	broad.mit.edu	37	chr3	39229057	39229057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttggggcttgaacatccagGtgcaggactgtgcctcagcc	7	9	14	11	0	1	1	1	1	0	0	2	2	2	2	3	4	4	3	3	4	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:39229057G>T	ENST00000340369.3	-	2	2108	c.1880C>A	c.(1879-1881)aCc>aAc	p.T627N	XIRP1_ENST00000396251.1_Missense_Mutation_p.T627N|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	627	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAACATCCAGGTGCAGGACTG	0.597													24	49					2.89027e-11	7.93024e-11	1	0	T	39229057	G	T	39229057	3	4	220	1	0	0	0	0	1	0	0	0	17525	1261	44	4	3655	4	XIRP1	3	39229057	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2658866	39229057	158793373	66	39281											
ULK4	54986	broad.mit.edu	37	chr3	41497085	41497085	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcctgagccagacttctggGcctggaacagagagaagaga	12	6	13	10	0	1	5	0	1	1	4	2	8	2	6	3	2	2	0	3	2	2	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:41497085G>A	ENST00000301831.4	-	34	3857	c.3393_splice	c.e34-1	p.A1132_splice		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1132							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGACTTCTGGGCCTGGAACAG	0.542													20	30					0	0	0	0	A	41497085	G	A	41497085	5	1	220	1	0	0	0	0	0	0	1	0	17074	1217	42	4	448	4	ULK4	3	41497085	Splice_Site	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2268028	41497085	156525345	67	39282											
ZNF502	91392	broad.mit.edu	37	chr3	44762622	44762622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagtcaaggatataattttGagaaaagcttgcttttgacc	13	15	8	5	0	1	2	1	2	0	1	1	4	1	3	1	1	2	2	1	1	6	8			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:44762622G>A	ENST00000296091.4	+	4	569	c.313G>A	c.(313-315)Gag>Aag	p.E105K	ZNF502_ENST00000436624.2_Missense_Mutation_p.E105K|ZNF502_ENST00000449836.1_Missense_Mutation_p.E105K	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ATATAATTTTGAGAAAAGCTT	0.398													9	41					0	0	0	0	A	44762622	G	A	44762622	3	1	220	1	0	0	0	0	1	0	0	0	18045	1291	45	2	319	2	ZNF502	3	44762622	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	3265537	44762622	153259808	68	39283											
RTP3	83597	broad.mit.edu	37	chr3	46542079	46542079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaaatgctatagaggaaGatttcagttgatagaggagg	16	9	14	2	0	1	5	1	1	0	4	1	8	1	7	0	3	1	2	0	3	6	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:46542079G>A	ENST00000296142.3	+	2	961	c.389G>A	c.(388-390)aGa>aAa	p.R130K		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	130					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TATAGAGGAAGATTTCAGTTG	0.463													13	93					0	0	0	0	A	46542079	G	A	46542079	3	1	220	1	0	0	0	0	1	0	0	0	13820	942	33	2	395	2	RTP3	3	46542079	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	1779457	46542079	151480351	69	39284											
CACNA1D	776	broad.mit.edu	37	chr3	53796040	53796040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggggtattttagtgacGcctggaacacgtttgactcc	8	12	11	10	2	0	2	0	2	0	0	2	3	2	3	3	3	1	2	3	3	3	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:53796040G>T	ENST00000288139.3	+	31	3980	c.3862G>T	c.(3862-3864)Gcc>Tcc	p.A1288S	CACNA1D_ENST00000350061.5_Missense_Mutation_p.A1268S|CACNA1D_ENST00000540742.1_Missense_Mutation_p.A175S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A1268S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1268					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTTTAGTGACGCCTGGAACAC	0.562													20	54					3.62473e-10	9.84038e-10	1	0	T	53796040	G	T	53796040	3	4	220	1	0	0	0	0	1	0	0	0	2566	1087	38	3	4092	3	CACNA1D	3	53796040	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	7253961	53796040	144226390	70	39285											
CADM2	253559	broad.mit.edu	37	chr3	85932571	85932571	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgcctgtcaaaacttcCaaggcatatctcaccgttct	12	11	5	13	1	3	0	2	0	2	0	5	0	4	0	3	1	2	2	3	1	5	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:85932571C>G	ENST00000383699.3	+	4	996	c.369C>G	c.(367-369)tcC>tcG	p.S123S	CADM2_ENST00000407528.2_Silent_p.S114S|CADM2_ENST00000405615.2_Silent_p.S116S	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	114					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TCAAAACTTCCAAGGCATATC	0.398													3	17					0	0	0	0	G	85932571	C	G	85932571	2	3	220	1	0	0	0	0	0	0	0	1	2592	581	21	4		4	CADM2	3	85932571	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	32136531	85932571	112089859	71	39286											
OR5AC2	81050	broad.mit.edu	37	chr3	97806802	97806802	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgatcttcatgtatgtGcgtcctgcatctggcttagc	6	15	9	11	1	4	1	1	1	3	0	5	1	5	1	1	1	3	3	1	1	2	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:97806802G>T	ENST00000358642.2	+	1	786	c.786G>T	c.(784-786)gtG>gtT	p.V262V		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TCATGTATGTGCGTCCTGCAT	0.428													15	57					2.23348e-06	5.43223e-06	1	0	T	97806802	G	T	97806802	2	4	220	1	0	0	0	0	0	0	0	1	11212	1306	46	4		4	OR5AC2	3	97806802	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	11874231	97806802	100215628	72	39287											
GPR128	84873	broad.mit.edu	37	chr3	100365491	100365491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggactgggacacatatGgctgtcaaaaagacaagggc	15	5	13	8	1	1	1	1	0	0	1	1	4	1	3	0	4	0	1	0	4	5	1	rs143826267	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:100365491G>T	ENST00000273352.3	+	10	1457	c.1189G>T	c.(1189-1191)Ggc>Tgc	p.G397C	GPR128_ENST00000475887.1_Missense_Mutation_p.G102C	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	397	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G397C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GGACACATATGGCTGTCAAAA	0.393													6	40					1.06961e-07	2.69501e-07	1	0	T	100365491	G	T	100365491	3	4	220	1	0	0	0	0	1	0	0	0	6690	1348	47	4	1227	4	GPR128	3	100365491	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2558689	100365491	97656939	73	39288											
DZIP3	9666	broad.mit.edu	37	chr3	108373010	108373010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccatatgtggtagaaaaGgaagagcagttgaggaaaga	17	6	14	4	0	0	4	0	1	0	3	0	6	0	6	1	3	2	3	1	3	6	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:108373010G>T	ENST00000361582.3	+	19	2282	c.2052G>T	c.(2050-2052)aaG>aaT	p.K684N	DZIP3_ENST00000463306.1_Missense_Mutation_p.K684N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	684					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGGTAGAAAAGGAAGAGCAGT	0.363													21	25					2.70639e-06	6.54116e-06	1	0	T	108373010	G	T	108373010	3	4	220	1	0	0	0	0	1	0	0	0	4901	991	35	4	2122	4	DZIP3	3	108373010	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	8007519	108373010	89649420	74	39289											
PTPLB	201562	broad.mit.edu	37	chr3	123247241	123247241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaacacttacctctttgaCgctatgtgttactgcccata	11	14	5	11	1	1	1	0	1	1	0	1	1	1	1	2	0	4	2	2	0	6	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:123247241C>A	ENST00000383657.5	-	4	530	c.373G>T	c.(373-375)Gtc>Ttc	p.V125F		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	125					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein binding			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		ACCTCTTTGACGCTATGTGTT	0.358													18	37					1.67942e-08	4.30176e-08	1	0	A	123247241	C	A	123247241	3	1	220	1	0	0	0	0	1	0	0	0	12857	536	19	3	407	3	PTPLB	3	123247241	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	14874231	123247241	74775189	75	39290											
PLXNA1	5361	broad.mit.edu	37	chr3	126707921	126707921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggagcactacctgtccaGcgtgcaggaggcaggcagca	11	5	14	11	1	0	0	0	0	0	0	1	2	1	2	2	4	5	5	2	4	2	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:126707921G>A	ENST00000251772.4	+	1	485	c.416G>A	c.(415-417)aGc>aAc	p.S139N	PLXNA1_ENST00000393409.2_Missense_Mutation_p.S162N			Q9UIW2	PLXA1_HUMAN	plexin A1	162	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TACCTGTCCAGCGTGCAGGAG	0.657													4	32					0	0	0	0	A	126707921	G	A	126707921	3	1	220	1	0	0	0	0	1	0	0	0	12191	971	34	4	487	4	PLXNA1	3	126707921	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	3460680	126707921	71314509	76	39291											
PIK3R4	30849	broad.mit.edu	37	chr3	130403120	130403120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacccaggactgatacagaGggtgcattgagaggcgtctg	10	8	14	9	1	2	3	1	2	1	2	2	5	2	4	1	3	2	1	1	3	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:130403120G>A	ENST00000356763.3	-	16	4138	c.3581C>T	c.(3580-3582)cCt>cTt	p.P1194L	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1194					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						CTGATACAGAGGGTGCATTGA	0.483													8	57					0	0	0	0	A	130403120	G	A	130403120	3	1	220	1	0	0	0	0	1	0	0	0	11993	1000	35	4	515	4	PIK3R4	3	130403120	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	3695199	130403120	67619310	77	39292											
EPHB1	2047	broad.mit.edu	37	chr3	134670706	134670706	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgcaaaattttgcagtgtTtccagagactatgacagggg	11	12	12	6	0	0	2	0	1	0	1	1	3	1	2	1	2	2	3	1	2	3	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:134670706T>C	ENST00000398015.3	+	3	987	c.617T>C	c.(616-618)tTt>tCt	p.F206S	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	206	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTTGCAGTGTTTCCAGAGACT	0.483													40	244					0	0	0	0	C	134670706	T	C	134670706	3	2	220	1	0	0	0	0	1	0	0	0	5212	1841	64	5	627	5	EPHB1	3	134670706	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	4267586	134670706	63351724	78	39293											
DZIP1L	199221	broad.mit.edu	37	chr3	137796423	137796423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttcagcaaagtggggttaCgcctcagagctgccagcacc	9	7	12	13	1	2	1	2	0	0	1	2	1	2	1	3	2	5	5	3	2	2	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:137796423C>T	ENST00000327532.2	-	11	1702	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Missense_Mutation_p.R447H	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	447						intracellular	zinc ion binding	p.R447P(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						AGTGGGGTTACGCCTCAGAGC	0.547													28	162					0	0	0	0	T	137796423	C	T	137796423	3	4	220	1	0	0	0	0	1	0	0	0	4900	536	19	1	996	1	DZIP1L	3	137796423	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	3125717	137796423	60226007	79	39294											
FAIM	55179	broad.mit.edu	37	chr3	138338576	138338576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttttgccaaccatggcatCtggagatgacagtcctatct	9	13	9	10	0	2	2	0	1	2	1	3	3	3	2	3	2	2	2	3	2	2	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:138338576C>T	ENST00000360570.3	+	2	262	c.8C>T	c.(7-9)tCt>tTt	p.S3F	FAIM_ENST00000393035.2_Intron|FAIM_ENST00000393034.2_Intron|FAIM_ENST00000338446.4_Intron	NM_001033031.1	NP_001028203.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	0					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						ACCATGGCATCTGGAGATGAC	0.348													44	69					0	0	0	0	T	138338576	C	T	138338576	3	4	220	1	0	0	0	0	1	0	0	0	5416	913	32	2	94	2	FAIM	3	138338576	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	542153	138338576	59683854	80	39295											
C3orf72	401089	broad.mit.edu	37	chr3	138669186	138669186	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctactagggaagcgtcgCggctgctctgaggcaggcag	7	7	16	11	3	2	1	0	1	2	0	3	2	2	2	0	4	3	5	0	4	3	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:138669186C>A	ENST00000383165.3	+	3	431	c.300C>A	c.(298-300)cgC>cgA	p.R100R		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	100										large_intestine(1)|lung(3)	4						GGAAGCGTCGCGGCTGCTCTG	0.687													22	42					2.89027e-11	7.93024e-11	1	0	A	138669186	C	A	138669186	2	1	220	1	0	0	0	0	0	0	0	1	2264	755	27	3		3	C3orf72	3	138669186	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	330610	138669186	59353244	81	39296											
C3orf58	205428	broad.mit.edu	37	chr3	143691744	143691744	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggagaccaaggactcgggCagcttcctgcttcgcaacct	8	7	12	14	3	0	1	0	0	0	1	3	3	1	2	3	3	3	4	3	3	2	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:143691744C>T	ENST00000315691.3	+	1	1105	c.570C>T	c.(568-570)ggC>ggT	p.G190G	C3orf58_ENST00000493396.1_3'UTR	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	190						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGACTCGGGCAGCTTCCTGC	0.697													7	13					0	0	0	0	T	143691744	C	T	143691744	2	4	220	1	0	0	0	0	0	0	0	1	2256	697	25	4		4	C3orf58	3	143691744	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	5022558	143691744	54330686	82	39297											
ZIC1	7545	broad.mit.edu	37	chr3	147128596	147128596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcaagtggatcgagcccGagcagctggccaaccccaaa	11	5	11	14	2	1	0	0	0	1	0	2	3	1	1	4	2	5	3	4	2	3	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:147128596G>A	ENST00000282928.4	+	1	1426	c.697G>A	c.(697-699)Gag>Aag	p.E233K		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	233					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GATCGAGCCCGAGCAGCTGGC	0.592													9	48					0	0	0	0	A	147128596	G	A	147128596	3	1	220	1	0	0	0	0	1	0	0	0	17773	1059	37	1	699	1	ZIC1	3	147128596	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	3436852	147128596	50893834	83	39298											
SI	6476	broad.mit.edu	37	chr3	164732915	164732915	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatcgatttagtacctttGcccaacaaatgtcattggtg	11	14	8	8	1	1	0	1	0	0	0	2	2	1	0	2	1	3	1	2	1	5	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:164732915G>T	ENST00000264382.3	-	33	4057	c.3995C>A	c.(3994-3996)gCa>gAa	p.A1332E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1332	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAGTACCTTTGCCCAACAAAT	0.323										HNSCC(35;0.089)			5	51					0.000602214	0.00128617	1	0	T	164732915	G	T	164732915	3	4	220	1	0	0	0	0	1	0	0	0	14385	1319	46	4	1552	4	SI	3	164732915	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	17604319	164732915	33289515	84	39299											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	44					0	0	0	0	A	178936091	G	A	178936091	3	1	220	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	14203176	178936091	19086339	85	39300											
VPS8	23355	broad.mit.edu	37	chr3	184711810	184711810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaaacttggagaaatccagGgacttatcttgggaatgtta	14	11	11	5	0	1	1	0	0	1	1	2	5	2	3	1	3	1	1	1	3	6	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:184711810G>A	ENST00000287546.4	+	42	3796	c.3625G>A	c.(3625-3627)Gga>Aga	p.G1209R	VPS8_ENST00000446204.2_Missense_Mutation_p.G1117R|VPS8_ENST00000437079.3_Missense_Mutation_p.G1209R|VPS8_ENST00000436792.2_Missense_Mutation_p.G1207R	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1209							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGAAATCCAGGGACTTATCTT	0.294													3	7					0	0	0	0	A	184711810	G	A	184711810	3	1	220	1	0	0	0	0	1	0	0	0	17314	1233	43	4	3787	4	VPS8	3	184711810	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	5775719	184711810	13310620	86	39301											
MASP1	5648	broad.mit.edu	37	chr3	186974553	186974553	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accctcctccagctcgatggTatacaggcattcagagctct	9	10	8	14	1	2	1	1	0	1	1	5	2	4	1	3	2	3	4	3	2	2	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:186974553T>C	ENST00000337774.5	-	5	1032	c.643A>G	c.(643-645)Acc>Gcc	p.T215A	MASP1_ENST00000392470.2_Missense_Mutation_p.T189A|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.T215A|MASP1_ENST00000392472.2_Missense_Mutation_p.T102A|MASP1_ENST00000296280.6_Missense_Mutation_p.T215A	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	215	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGCTCGATGGTATACAGGCAT	0.512													10	95					0	0	0	0	C	186974553	T	C	186974553	3	2	220	1	0	0	0	0	1	0	0	0	9391	1638	57	5	2449	5	MASP1	3	186974553	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	2262743	186974553	11047877	87	39302											
FGF12	2257	broad.mit.edu	37	chr3	192078262	192078262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccatcaatggtaccatctgGgtgcatctgcaggaagtatc	10	10	10	11	0	3	0	1	0	2	0	4	1	3	1	2	3	3	4	2	3	4	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:192078262G>T	ENST00000454309.2	-	2	1090	c.265C>A	c.(265-267)Cca>Aca	p.P89T	FGF12_ENST00000430714.1_Intron|FGF12_ENST00000264730.3_Missense_Mutation_p.P27T|FGF12_ENST00000450716.1_Missense_Mutation_p.P27T|FGF12_ENST00000445105.1_Missense_Mutation_p.P27T	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	89					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	p.P89T(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GTACCATCTGGGTGCATCTGC	0.408													22	68					4.26978e-12	1.19275e-11	1	0	T	192078262	G	T	192078262	3	4	220	1	0	0	0	0	1	0	0	0	5886	1232	43	4	482	4	FGF12	3	192078262	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	5103709	192078262	5944168	88	39303											
GBA3	57733	broad.mit.edu	37	chr4	22749401	22749401	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctggatttatttgctaaaCccatattcatcgatggtgat	11	16	7	7	1	2	1	1	1	1	0	3	3	2	2	1	2	2	1	1	2	4	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:22749401C>A	ENST00000508166.1	+	0	871				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						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						ATTTGCTAAACCCATATTCAT	0.448													18	68					3.52763e-06	8.4466e-06	1	0	A	22749401	C	A	22749401	1	1	220	0	1	0	0	0	0	0	0	0	6317	507	18	4		4	GBA3	4	22749401	RNA	SNP	C	TCGA-CR-7399-01A-11D-2012-08		22749401	168404875	89	39304											
N4BP2	55728	broad.mit.edu	37	chr4	40115063	40115063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgtagtctcagaaacaCaaatataaagtcctttttcg	14	14	6	7	1	1	1	1	0	1	1	4	1	2	1	1	0	1	2	1	0	7	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:40115063C>A	ENST00000261435.6	+	7	2015	c.1599C>A	c.(1597-1599)caC>caA	p.H533Q		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	533						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTCAGAAACACAAATATAAAG	0.313													25	97					0.000375601	0.000818046	1	0	A	40115063	C	A	40115063	3	1	220	1	0	0	0	0	1	0	0	0	10180	477	17	4	1617	4	N4BP2	4	40115063	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	17365662	40115063	151039213	90	39305											
ATP8A1	10396	broad.mit.edu	37	chr4	42425687	42425687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggatgaataacaagccCatccaaaagactccagaact	18	5	7	11	0	0	3	0	1	0	2	2	4	2	4	3	1	3	0	3	1	6	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:42425687C>T	ENST00000381668.5	-	34	3390	c.3159G>A	c.(3157-3159)atG>atA	p.M1053I	ATP8A1_ENST00000264449.10_Missense_Mutation_p.M1038I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1053					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATAACAAGCCCATCCAAAAGA	0.358													6	16					0	0	0	0	T	42425687	C	T	42425687	3	4	220	1	0	0	0	0	1	0	0	0	1196	594	21	4	351	4	ATP8A1	4	42425687	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	2310624	42425687	148728589	91	39306											
GUF1	60558	broad.mit.edu	37	chr4	44680736	44680736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccccggggccccggtccGcgccgacccttggggctgct	1	6	16	18	5	0	0	0	0	0	0	1	1	1	0	7	6	1	2	7	6	0	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:44680736G>A	ENST00000281543.5	+	1	291	c.97G>A	c.(97-99)Gcg>Acg	p.A33T	GUF1_ENST00000506793.1_Intron	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	33					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GCCCCGGTCCGCGCCGACCCT	0.692													5	24					0	0	0	0	A	44680736	G	A	44680736	3	1	220	1	0	0	0	0	1	0	0	0	6949	1087	38	1	99	1	GUF1	4	44680736	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2255049	44680736	146473540	92	39307											
GABRA2	2555	broad.mit.edu	37	chr4	46314582	46314582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggcattgtcatattatgaGctactgattttttcccattg	8	19	7	7	0	1	2	1	2	0	0	2	2	2	2	1	1	2	2	1	1	3	9			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:46314582G>A	ENST00000510861.1	-	5	580	c.407C>T	c.(406-408)gCt>gTt	p.A136V	GABRA2_ENST00000507069.1_Missense_Mutation_p.A136V|GABRA2_ENST00000515082.1_Missense_Mutation_p.A136V|GABRA2_ENST00000381620.4_Missense_Mutation_p.A136V|GABRA2_ENST00000514090.1_Missense_Mutation_p.A136V|GABRA2_ENST00000540012.1_Missense_Mutation_p.A81V|GABRA2_ENST00000356504.1_Missense_Mutation_p.A136V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	136					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATATTATGAGCTACTGATTT	0.343													11	69					0	0	0	0	A	46314582	G	A	46314582	3	1	220	1	0	0	0	0	1	0	0	0	6209	971	34	4	972	4	GABRA2	4	46314582	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	1633846	46314582	144839694	93	39308											
NFXL1	152518	broad.mit.edu	37	chr4	47857090	47857090	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttaccttttttattctttTacaaggacatctaagtttta	11	21	3	6	0	2	0	0	0	2	0	2	1	2	1	1	1	2	1	1	1	6	11			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:47857090T>A	ENST00000507489.1	-	20	2583	c.2407A>T	c.(2407-2409)Aaa>Taa	p.K803*	NFXL1_ENST00000381538.3_Nonsense_Mutation_p.K803*	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	803						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TTTATTCTTTTACAAGGACAT	0.299													15	51					0	0	0	0	A	47857090	T	A	47857090	4	1	220	1	0	0	0	0	0	1	0	0	10458	1763	61	5	344	5	NFXL1	4	47857090	Nonsense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	1542508	47857090	143297186	94	39309											
USP46	64854	broad.mit.edu	37	chr4	53492412	53492412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcatgtagttatcaaagaGatctggaaaggagaaggtgg	14	9	14	4	0	2	2	1	0	1	2	2	5	2	3	0	4	1	3	0	4	5	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:53492412G>C	ENST00000441222.2	-	4	518	c.334C>G	c.(334-336)Ctc>Gtc	p.L112V	USP46_ENST00000451218.2_Missense_Mutation_p.L85V|USP46_ENST00000508499.1_Missense_Mutation_p.L105V	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	112					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TTATCAAAGAGATCTGGAAAG	0.343													6	26					0	0	0	0	C	53492412	G	C	53492412	3	2	220	1	0	0	0	0	1	0	0	0	17173	942	33	2	790	2	USP46	4	53492412	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	5635322	53492412	137661864	95	39310											
ANKRD17	26057	broad.mit.edu	37	chr4	73956626	73956626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgaaattgggagcaataGgcttatttgctggatgtact	11	13	11	6	0	0	1	0	1	0	0	0	3	0	3	0	3	3	4	0	3	5	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:73956626G>A	ENST00000358602.4	-	29	6835	c.6719C>T	c.(6718-6720)cCt>cTt	p.P2240L	ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2127L|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1989L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2240					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGAGCAATAGGCTTATTTGC	0.458													49	224					0	0	0	0	A	73956626	G	A	73956626	3	1	220	1	0	0	0	0	1	0	0	0	646	1000	35	4	1116	4	ANKRD17	4	73956626	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	20464214	73956626	117197650	96	39311											
GPRIN3	285513	broad.mit.edu	37	chr4	90169444	90169444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccatgggatcagatggcagGctcaggctggtggctgtctt	6	10	15	10	0	3	1	2	0	1	1	3	2	3	2	1	6	0	4	1	6	0	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:90169444G>T	ENST00000333209.3	-	2	2336	c.1818C>A	c.(1816-1818)agC>agA	p.S606R		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	606										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGATGGCAGGCTCAGGCTGG	0.582													31	100					1.08312e-15	3.13942e-15	1	0	T	90169444	G	T	90169444	3	4	220	1	0	0	0	0	1	0	0	0	6781	1194	42	4	516	4	GPRIN3	4	90169444	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	16212818	90169444	100984832	97	39312											
GSTCD	79807	broad.mit.edu	37	chr4	106744222	106744222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattgtggatttctgcagcgGtggggtattttatctctcct	6	17	11	7	1	2	0	0	0	2	0	4	1	3	1	1	4	2	2	1	4	3	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:106744222G>A	ENST00000515279.1	+	6	1572	c.1352G>A	c.(1351-1353)gGt>gAt	p.G451D	GSTCD_ENST00000394730.3_Missense_Mutation_p.G364D|GSTCD_ENST00000394728.3_Missense_Mutation_p.G451D|RP11-45L9.1_ENST00000504955.1_RNA|RP11-45L9.1_ENST00000509003.1_RNA|GSTCD_ENST00000360505.5_Missense_Mutation_p.G451D|RP11-45L9.1_ENST00000506527.1_RNA|GSTCD_ENST00000515255.1_3'UTR			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	451						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTCTGCAGCGGTGGGGTATTT	0.383													25	75					0	0	0	0	A	106744222	G	A	106744222	3	1	220	1	0	0	0	0	1	0	0	0	6885	1261	44	4	1370	4	GSTCD	4	106744222	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	16574778	106744222	84410054	98	39313											
ANK2	287	broad.mit.edu	37	chr4	114284553	114284553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaaattcgaattgaaaatCccaactctcttcaagaccag	16	10	4	11	1	3	2	2	1	1	1	6	3	4	2	2	0	1	0	2	0	6	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:114284553C>A	ENST00000357077.4	+	40	10869	c.10816C>A	c.(10816-10818)Ccc>Acc	p.P3606T	ANK2_ENST00000510275.2_Missense_Mutation_p.P173T|ANK2_ENST00000506722.1_Missense_Mutation_p.P1512T|ANK2_ENST00000394537.3_Missense_Mutation_p.P1521T|ANK2_ENST00000509550.1_Missense_Mutation_p.P697T|ANK2_ENST00000264366.6_Missense_Mutation_p.P3573T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3573	Death.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATTGAAAATCCCAACTCTCT	0.383													11	42					1.58986e-06	3.90377e-06	1	0	A	114284553	C	A	114284553	3	1	220	1	0	0	0	0	1	0	0	0	621	855	30	2	11039	2	ANK2	4	114284553	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	7540331	114284553	76869723	99	39314											
WDR17	116966	broad.mit.edu	37	chr4	177098210	177098210	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttttcacacgttcagtCagctattaaaacgtcgggag	10	13	8	10	3	3	0	3	0	0	0	5	1	4	1	1	1	2	2	1	1	3	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:177098210C>A	ENST00000393643.2	+	28	3748	c.3494_splice	c.e28-1	p.Q1166_splice	WDR17_ENST00000507824.2_Splice_Site_p.Q1165_splice|WDR17_ENST00000508596.1_Splice_Site_p.Q1151_splice|WDR17_ENST00000280190.4_Splice_Site_p.Q1190_splice	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1190										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CACGTTCAGTCAGCTATTAAA	0.348													8	29					5.4927e-09	1.43555e-08	1	0	A	177098210	C	A	177098210	5	1	220	1	0	0	0	0	0	0	1	0	17373	840	29	2	3678	2	WDR17	4	177098210	Splice_Site	SNP	C	TCGA-CR-7399-01A-11D-2012-08	62813657	177098210	14056066	100	39315											
ENPP6	133121	broad.mit.edu	37	chr4	185018464	185018464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtagccgtgccatccacGctgccaaccttcccgcctgc	5	8	9	19	4	0	0	0	0	0	0	3	0	2	0	7	0	5	2	7	0	2	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:185018464G>T	ENST00000296741.2	-	7	1192	c.1051C>A	c.(1051-1053)Cgt>Agt	p.R351S		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	351					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGCCATCCACGCTGCCAACCT	0.577													8	33					3.09899e-07	7.73242e-07	1	0	T	185018464	G	T	185018464	3	4	220	1	0	0	0	0	1	0	0	0	5172	1087	38	3	279	3	ENPP6	4	185018464	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	7920254	185018464	6135812	101	39316											
MARCH6	10299	broad.mit.edu	37	chr5	10415698	10415698	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgtttgctggctaaccAtaagggctgtgacggtgatg	8	13	13	7	1	1	2	0	2	1	0	1	2	1	2	1	3	2	4	1	3	3	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:10415698A>G	ENST00000274140.5	+	21	2197	c.2065A>G	c.(2065-2067)Ata>Gta	p.I689V	MARCH6_ENST00000503788.1_Missense_Mutation_p.I584V|MARCH6_ENST00000510792.1_Missense_Mutation_p.I387V|MARCH6_ENST00000449913.2_Missense_Mutation_p.I641V	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	689					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CTGGCTAACCATAAGGGCTGT	0.493													35	95					0	0	0	0	G	10415698	A	G	10415698	3	3	220	1	0	0	0	0	1	0	0	0	9374	217	8	5	2147	5	MARCH6	5	10415698	Missense_Mutation	SNP	A	TCGA-CR-7399-01A-11D-2012-08		10415698	170499562	102	39317											
DNAH5	1767	broad.mit.edu	37	chr5	13719206	13719206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agttctgcagaagtgcccatCctccctgtcaatagcagtaa	11	10	8	12	0	2	1	1	0	1	1	4	1	4	1	3	0	3	4	3	0	4	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:13719206C>T	ENST00000265104.4	-	72	12388	c.12284G>A	c.(12283-12285)gGa>gAa	p.G4095E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4095	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGTGCCCATCCTCCCTGTCA	0.363									Kartagener syndrome				10	33					0	0	0	0	T	13719206	C	T	13719206	3	4	220	1	0	0	0	0	1	0	0	0	4641	855	30	2	1622	2	DNAH5	5	13719206	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	3303508	13719206	167196054	103	39318											
CDH10	1008	broad.mit.edu	37	chr5	24511453	24511453	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctttttcacagtgatgaTgccttcctgtgtgtccttct	5	17	7	12	0	2	2	1	2	1	0	4	2	4	2	4	0	1	0	4	0	0	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:24511453T>G	ENST00000264463.4	-	6	1492	c.985A>C	c.(985-987)Atc>Ctc	p.I329L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	329	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACAGTGATGATGCCTTCCTGT	0.413										HNSCC(23;0.051)			17	148					0	0	0	0	G	24511453	T	G	24511453	3	3	220	1	0	0	0	0	1	0	0	0	3125	1464	51	5	1409	5	CDH10	5	24511453	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	10792247	24511453	156403807	104	39319											
NPR3	4883	broad.mit.edu	37	chr5	32774814	32774814	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctggggttttcttttcagGttaacatgtttgttgaagga	8	18	11	4	0	3	1	1	1	2	0	3	2	3	2	0	4	1	4	0	4	2	7			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:32774814G>T	ENST00000265074.8	+	4	1403	c.1059_splice	c.e4-1	p.V354_splice	NPR3_ENST00000415167.2_Splice_Site_p.V354_splice|NPR3_ENST00000415685.2_Splice_Site_p.V138_splice|NPR3_ENST00000434067.2_Splice_Site_p.V138_splice	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	354					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTCTTTTCAGGTTAACATGTT	0.443													39	202					1.30998e-17	3.85495e-17	1	0	T	32774814	G	T	32774814	5	4	220	1	0	0	0	0	0	0	1	0	10667	1275	44	4	1074	4	NPR3	5	32774814	Splice_Site	SNP	G	TCGA-CR-7399-01A-11D-2012-08	8263361	32774814	148140446	105	39320											
EGFLAM	133584	broad.mit.edu	37	chr5	38427226	38427226	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaatttgagatcacatttcgGccagactcaggagatggtgt	11	11	12	7	1	2	3	2	1	0	3	3	6	2	3	1	3	0	0	1	3	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:38427226G>T	ENST00000322350.5	+	14	2272	c.1926G>T	c.(1924-1926)cgG>cgT	p.R642R	EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_Silent_p.R8R|EGFLAM_ENST00000336740.6_Silent_p.R408R|EGFLAM_ENST00000354891.3_Silent_p.R642R	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	642	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCACATTTCGGCCAGACTCAG	0.527													30	169					2.4375e-19	7.28415e-19	1	0	T	38427226	G	T	38427226	2	4	220	1	0	0	0	0	0	0	0	1	5002	1190	42	4		4	EGFLAM	5	38427226	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	5652412	38427226	142488034	106	39321											
EGFLAM	133584	broad.mit.edu	37	chr5	38427334	38427334	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttccgctttgactgtggCtctgggaccggtgtcctcag	4	12	14	11	2	2	1	1	1	1	0	4	3	4	2	3	3	0	3	3	3	0	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:38427334C>T	ENST00000322350.5	+	14	2380	c.2034C>T	c.(2032-2034)ggC>ggT	p.G678G	EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_Silent_p.G44G|EGFLAM_ENST00000336740.6_Silent_p.G444G|EGFLAM_ENST00000354891.3_Silent_p.G678G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	678	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTGACTGTGGCTCTGGGACCG	0.507													27	230					0	0	0	0	T	38427334	C	T	38427334	2	4	220	1	0	0	0	0	0	0	0	1	5002	784	28	4		4	EGFLAM	5	38427334	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	108	38427334	142487926	107	39322											
SV2C	22987	broad.mit.edu	37	chr5	75428020	75428020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaagaatgcggtcatggtCgttttcagtgggcccttttc	6	14	11	10	2	2	1	2	0	0	1	5	1	3	1	2	3	1	1	2	3	2	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:75428020C>T	ENST00000502798.2	+	2	887	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	SV2C_ENST00000322285.7_Missense_Mutation_p.R149C	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	149					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CGGTCATGGTCGTTTTCAGTG	0.527													23	80					0	0	0	0	T	75428020	C	T	75428020	3	4	220	1	0	0	0	0	1	0	0	0	15509	884	31	1	447	1	SV2C	5	75428020	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	37000686	75428020	105487240	108	39323											
VCAN	1462	broad.mit.edu	37	chr5	82786136	82786136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcaagattggtcaggactAcaaagggagagtgtctgtgc	12	10	13	6	0	3	2	2	0	1	2	3	4	3	3	0	3	2	0	0	3	4	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:82786136A>T	ENST00000265077.3	+	3	855	c.290A>T	c.(289-291)tAc>tTc	p.Y97F	VCAN_ENST00000342785.4_Missense_Mutation_p.Y97F|VCAN_ENST00000343200.5_Missense_Mutation_p.Y97F|VCAN_ENST00000502527.2_Missense_Mutation_p.Y97F|VCAN_ENST00000513984.1_Missense_Mutation_p.Y97F|VCAN_ENST00000512590.2_Missense_Mutation_p.Y49F	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	97	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGTCAGGACTACAAAGGGAGA	0.483													22	69					0	0	0	0	T	82786136	A	T	82786136	3	4	220	1	0	0	0	0	1	0	0	0	17234	391	14	5	296	5	VCAN	5	82786136	Missense_Mutation	SNP	A	TCGA-CR-7399-01A-11D-2012-08	7358116	82786136	98129124	109	39324											
FTMT	94033	broad.mit.edu	37	chr5	121188322	121188322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagtgaagatgggggccccgGatgctggcctggcggagtac	7	7	18	9	2	0	2	0	1	0	1	0	4	0	4	3	6	2	2	3	6	3	2	rs138610881	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:121188322G>T	ENST00000321339.1	+	1	673	c.664G>T	c.(664-666)Gat>Tat	p.D222Y		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	222					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGGGGCCCCGGATGCTGGCCT	0.507													34	93					6.84511e-11	1.87148e-10	1	0	T	121188322	G	T	121188322	3	4	220	1	0	0	0	0	1	0	0	0	6133	1174	41	2	666	2	FTMT	5	121188322	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	38402186	121188322	59726938	110	39325											
ISOC1	51015	broad.mit.edu	37	chr5	128430682	128430682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtggtgcagctgttcgccGaggagtggggccagtacgtg	5	9	18	9	4	0	0	0	0	0	0	2	2	0	1	2	4	3	4	2	4	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:128430682G>A	ENST00000173527.5	+	1	239	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	75						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		GCTGTTCGCCGAGGAGTGGGG	0.652													5	16					0	0	0	0	A	128430682	G	A	128430682	3	1	220	1	0	0	0	0	1	0	0	0	7915	1059	37	1	225	1	ISOC1	5	128430682	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	7242360	128430682	52484578	111	39326											
PCDHB6	56130	broad.mit.edu	37	chr5	140530921	140530921	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaaacttaccagagatCacagtggcagttttcagtgt	13	10	9	9	0	2	2	2	0	0	2	2	3	2	2	2	1	2	2	2	1	3	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140530921C>A	ENST00000231136.1	+	1	1083	c.1083C>A	c.(1081-1083)atC>atA	p.I361I	PCDHB6_ENST00000543635.1_Silent_p.I225I	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		361	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCAGAGATCACAGTGGCAG	0.453													14	40					1.5842e-08	4.07139e-08	1	0	A	140530921	C	A	140530921	2	1	220	1	0	0	0	0	0	0	0	1	11617	816	29	2		2	PCDHB6	5	140530921	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	12100239	140530921	40384339	112	39327											
PCDHB8	56128	broad.mit.edu	37	chr5	140558046	140558046	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaatgttggtgaaagtatCagagagcagtcctcctggga	13	9	12	7	0	1	2	1	1	0	1	3	4	3	3	2	2	1	3	2	2	3	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140558046C>G	ENST00000239444.2	+	1	676	c.431C>G	c.(430-432)tCa>tGa	p.S144*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		144	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGAAAGTATCAGAGAGCAGT	0.423													13	49					0	0	0	0	G	140558046	C	G	140558046	4	3	220	1	0	0	0	0	0	1	0	0	11619	838	29	2	433	2	PCDHB8	5	140558046	Nonsense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	27125	140558046	40357214	113	39328											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719785	140719785	+	Frame_Shift_Del	DEL	C	C	-																															ccttgacagggaacagttttCcttttacaacatcactctaa																										TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140719785delC	ENST00000394576.2	+	1	1247	c.1247delC	c.(1246-1248)tcfs	p.S416fs	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACAGTTTTCCTTTTACAAC	0.478													10	54	---	---	---	---					-	140719785	C	-	140719785	7	5	220	1	0	1	0	1	0	0	0	0	11625	855	30	0	1249	0	PCDHGA2	5	140719785	Frame_Shift_Del	DEL	C	TCGA-CR-7399-01A-11D-2012-08	161739	140719785	40195475	114	39329											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768028	140768028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatggcagtaaataccctGagatggtattgaagacacct	14	9	10	8	0	0	4	0	2	0	3	0	5	0	4	2	2	1	3	2	2	5	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140768028G>A	ENST00000519479.1	+	1	577	c.577G>A	c.(577-579)Gag>Aag	p.E193K	PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAATACCCTGAGATGGTATT	0.443													16	55					0	0	0	0	A	140768028	G	A	140768028	3	1	220	1	0	0	0	0	1	0	0	0	11636	1291	45	2	579	2	PCDHGB4	5	140768028	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	48243	140768028	40147232	115	39330											
ARHGAP26	23092	broad.mit.edu	37	chr5	142292826	142292826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagactccattgagaaGaggttttgctttgatgtgga	13	12	11	5	0	0	4	0	2	0	3	1	6	1	5	1	2	2	2	1	2	3	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:142292826G>T	ENST00000378004.3	+	10	1351	c.996G>T	c.(994-996)aaG>aaT	p.K332N	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.K332N	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	332	PH.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATTGAGAAGAGGTTTTGCT	0.428													15	55					1.52009e-12	4.30879e-12	1	0	T	142292826	G	T	142292826	3	4	220	1	0	0	0	0	1	0	0	0	877	933	33	2	1034	2	ARHGAP26	5	142292826	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	1524798	142292826	38622434	116	39331											
SGCD	6444	broad.mit.edu	37	chr5	156186321	156186321	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtcttcgagatctgcGtctgcgccaatgggagatta	10	10	13	8	3	3	3	0	0	3	3	4	5	3	3	1	2	2	0	1	2	3	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:156186321G>C	ENST00000435422.3	+	8	1277	c.790G>C	c.(790-792)Gtc>Ctc	p.V264L	SGCD_ENST00000337851.4_Missense_Mutation_p.V265L	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	264					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGAGATCTGCGTCTGCGCCAA	0.488													23	77					0	0	0	0	C	156186321	G	C	156186321	3	2	220	1	0	0	0	0	1	0	0	0	14288	1145	40	3	895	3	SGCD	5	156186321	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	13893495	156186321	24728939	117	39332											
DOCK2	1794	broad.mit.edu	37	chr5	169468122	169468122	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacacagaggctgcctacacGctccttctccacacctggct	8	9	7	17	1	1	1	0	0	1	1	3	1	2	1	4	2	3	3	4	2	2	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:169468122G>C	ENST00000256935.8	+	37	3809	c.3729G>C	c.(3727-3729)acG>acC	p.T1243T	DOCK2_ENST00000520908.1_Silent_p.T735T|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.T304T	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1243	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGCCTACACGCTCCTTCTCC	0.502													3	23					0	0	0	0	C	169468122	G	C	169468122	2	2	220	1	0	0	0	0	0	0	0	1	4723	1074	38	3		3	DOCK2	5	169468122	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	13281801	169468122	11447138	118	39333											
ADAMTS2	9509	broad.mit.edu	37	chr5	178770999	178770999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactgccaggctcctcctcGttgcctccggggaagctcgg	4	9	13	15	3	0	1	0	1	0	0	5	2	3	2	5	4	3	3	5	4	1	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:178770999G>T	ENST00000251582.7	-	2	404	c.303C>A	c.(301-303)aaC>aaA	p.N101K	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.N101K	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	101					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCTCCTCCTCGTTGCCTCCGG	0.711													18	31					4.96729e-08	1.25567e-07	1	0	T	178770999	G	T	178770999	3	4	220	1	0	0	0	0	1	0	0	0	265	1136	40	3	3491	3	ADAMTS2	5	178770999	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	9302877	178770999	2144261	119	39334											
MAPK9	5601	broad.mit.edu	37	chr5	179666940	179666940	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctttccattcttcaatTgcatgttctctttcttccaa	7	20	2	12	0	4	0	1	0	3	0	7	0	6	0	3	0	2	2	3	0	3	8			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:179666940T>C	ENST00000452135.2	-	10	1342	c.1044A>G	c.(1042-1044)gcA>gcG	p.A348A	MAPK9_ENST00000393360.3_Silent_p.A348A|MAPK9_ENST00000347470.4_Silent_p.A263A|MAPK9_ENST00000455781.1_Silent_p.A348A|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000343111.6_Silent_p.A348A			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	348					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTCTTCAATTGCATGTTCTC	0.348													13	23					0	0	0	0	C	179666940	T	C	179666940	2	2	220	1	0	0	0	0	0	0	0	1	9356	1799	63	5		5	MAPK9	5	179666940	Silent	SNP	T	TCGA-CR-7399-01A-11D-2012-08	895941	179666940	1248320	120	39335											
FLT4	2324	broad.mit.edu	37	chr5	180043408	180043408	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtctttgtagatgtcccGggcaaggccaaagtcacaga	10	8	14	9	1	2	2	1	0	1	2	3	2	3	2	2	4	0	2	2	4	3	2	rs68096331		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:180043408G>T	ENST00000261937.6	-	23	3256	c.3178C>A	c.(3178-3180)Cgg>Agg	p.R1060R	FLT4_ENST00000502649.1_Silent_p.R1060R|FLT4_ENST00000393347.3_Silent_p.R1060R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1060	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TAGATGTCCCGGGCAAGGCCA	0.617													12	48					3.07112e-06	7.37642e-06	1	0	T	180043408	G	T	180043408	2	4	220	1	0	0	0	0	0	0	0	1	5989	1115	39	3		3	FLT4	5	180043408	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	376468	180043408	871852	121	39336											
MBOAT1	154141	broad.mit.edu	37	chr6	20102580	20102580	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctttgcgtatgagcttgTggtttcattggcagaaatag	8	14	12	7	2	1	2	1	1	0	1	1	2	1	2	1	2	2	4	1	2	3	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:20102580T>C	ENST00000541730.1	-	12	1573	c.978A>G	c.(976-978)ccA>ccG	p.P326P	MBOAT1_ENST00000324607.7_Silent_p.P475P			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	475					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TATGAGCTTGTGGTTTCATTG	0.353													11	46					0	0	0	0	C	20102580	T	C	20102580	2	2	220	1	0	0	0	0	0	0	0	1	9425	1683	59	5		5	MBOAT1	6	20102580	Silent	SNP	T	TCGA-CR-7399-01A-11D-2012-08		20102580	151012487	122	39337											
SLC17A4	10050	broad.mit.edu	37	chr6	25776987	25776987	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggacacaggggtgaacgTgggaagctcagagcagcctt	11	6	15	9	1	1	2	1	1	0	1	1	4	1	4	1	4	4	2	1	4	2	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:25776987T>C	ENST00000397076.2	+	5	764	c.462T>C	c.(460-462)cgT>cgC	p.R154R	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000377905.4_Intron			Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	374					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGGTGAACGTGGGAAGCTCA	0.527													19	64					0	0	0	0	C	25776987	T	C	25776987	2	2	220	1	0	0	0	0	0	0	0	1	14507	1711	59	5		5	SLC17A4	6	25776987	Silent	SNP	T	TCGA-CR-7399-01A-11D-2012-08	5674407	25776987	145338080	123	39338											
OR5V1	81696	broad.mit.edu	37	chr6	29323758	29323758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacattgctggtggtgtagCagatgtcaataaaggccaag	12	9	14	6	0	1	1	1	0	0	1	1	2	1	2	1	4	2	3	1	4	5	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:29323758C>A	ENST00000377154.1	-	4	514	c.215G>T	c.(214-216)tGc>tTc	p.C72F	OR5V1_ENST00000543825.1_Missense_Mutation_p.C72F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTGGTGTAGCAGATGTCAAT	0.408													25	78					1.16021e-09	3.09523e-09	1	0	A	29323758	C	A	29323758	3	1	220	1	0	0	0	0	1	0	0	0	11255	710	25	4	753	4	OR5V1	6	29323758	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	3546771	29323758	141791309	124	39339											
ZFP57	346171	broad.mit.edu	37	chr6	29641451	29641451	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggcactggccggcccctCtgcatgcaaggaagaccttg	7	6	15	13	1	1	1	0	0	1	1	1	2	1	2	4	5	2	3	4	5	2	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:29641451C>G	ENST00000376883.1	-	6	788	c.377G>C	c.(376-378)aGa>aCa	p.R126T	ZFP57_ENST00000488757.1_Missense_Mutation_p.R146T|ZFP57_ENST00000376881.3_Missense_Mutation_p.R126T			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	78					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GCCGGCCCCTCTGCATGCAAG	0.557													25	84					0	0	0	0	G	29641451	C	G	29641451	3	3	220	1	0	0	0	0	1	0	0	0	17746	913	32	2	1177	2	ZFP57	6	29641451	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	317693	29641451	141473616	125	39340											
KCNK16	83795	broad.mit.edu	37	chr6	39290287	39290287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggggcagcacccggccaccCcagcagctgcagagcccagc	9	1	13	18	1	0	1	0	0	0	1	0	1	0	1	5	3	6	5	5	3	0	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:39290287C>A	ENST00000425054.2	-	1	29	c.30G>T	c.(28-30)tgG>tgT	p.W10C	KCNK16_ENST00000437525.2_Missense_Mutation_p.W10C|KCNK16_ENST00000373227.4_Missense_Mutation_p.W10C|KCNK16_ENST00000373229.5_Missense_Mutation_p.W10C|KCNK16_ENST00000507712.1_Intron	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	10						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCCGGCCACCCCAGCAGCTGC	0.657													9	6					2.17888e-05	5.04479e-05	1	0	A	39290287	C	A	39290287	3	1	220	1	0	0	0	0	1	0	0	0	8116	624	22	4	1308	4	KCNK16	6	39290287	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	9648836	39290287	131824780	126	39341											
VEGFA	7422	broad.mit.edu	37	chr6	43749750	43749750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtacaagatccgcagacGtgtaaatgttcctgcaaaaa	14	11	8	8	2	0	2	0	0	0	2	2	2	2	2	2	0	2	5	2	0	6	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:43749750G>A	ENST00000372067.3	+	6	1514	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	VEGFA_ENST00000417285.2_Silent_p.T340T|VEGFA_ENST00000413642.3_Silent_p.T358T|VEGFA_ENST00000230480.6_Silent_p.T132T|VEGFA_ENST00000520948.1_Silent_p.T184T|VEGFA_ENST00000482630.2_Silent_p.T340T|VEGFA_ENST00000372055.4_Silent_p.T381T|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000523125.1_Silent_p.T160T|VEGFA_ENST00000518689.1_Silent_p.T178T|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000425836.2_Silent_p.T364T|VEGFA_ENST00000523873.1_Silent_p.T201T|VEGFA_ENST00000518824.1_Silent_p.T160T|VEGFA_ENST00000523950.1_Silent_p.T160T|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000457104.2_Intron	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	201					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	ATCCGCAGACGTGTAAATGTT	0.493													6	28					0	0	0	0	A	43749750	G	A	43749750	2	1	220	1	0	0	0	0	0	0	0	1	17246	1132	40	1		1	VEGFA	6	43749750	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	4459463	43749750	127365317	127	39342											
ENPP4	22875	broad.mit.edu	37	chr6	46107690	46107690	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacctatttgggtgaccaatCagcttcaggaaaacagatca	14	10	8	9	0	3	2	3	1	0	1	3	3	3	3	2	2	3	1	2	2	5	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:46107690C>G	ENST00000321037.4	+	2	600	c.370C>G	c.(370-372)Cag>Gag	p.Q124E		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	124						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GGTGACCAATCAGCTTCAGGA	0.413													19	69					0	0	0	0	G	46107690	C	G	46107690	3	3	220	1	0	0	0	0	1	0	0	0	5170	827	29	2	372	2	ENPP4	6	46107690	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	2357940	46107690	125007377	128	39343											
DST	667	broad.mit.edu	37	chr6	56371281	56371281	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacggcagcctgcattgccTcctcaagtttgtcaatccgg	8	10	10	13	2	2	0	2	0	0	0	4	1	4	0	4	2	4	3	4	2	3	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:56371281T>A	ENST00000370754.5	-	77	19330	c.19331A>T	c.(19330-19332)gAg>gTg	p.E6444V	DST_ENST00000446842.2_Missense_Mutation_p.E5940V|DST_ENST00000361203.3_Missense_Mutation_p.E6155V|DST_ENST00000244364.6_Missense_Mutation_p.E3852V|DST_ENST00000340834.4_5'UTR|DST_ENST00000421834.2_Missense_Mutation_p.E4178V|DST_ENST00000370788.2_Missense_Mutation_p.E4069V|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.E6266V			Q03001	DYST_HUMAN	dystonin	6264					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCATTGCCTCCTCAAGTTT	0.418													5	32					0	0	0	0	A	56371281	T	A	56371281	3	1	220	1	0	0	0	0	1	0	0	0	4819	1551	54	5	4068	5	DST	6	56371281	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	10263591	56371281	114743786	129	39344											
IMPG1	3617	broad.mit.edu	37	chr6	76728538	76728538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagacgctgagctccaccCtctgctcctccaacacagcg	9	6	9	17	2	1	2	0	1	1	1	4	4	4	2	4	0	4	3	4	0	1	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:76728538C>A	ENST00000369950.3	-	7	893	c.704G>T	c.(703-705)aGg>aTg	p.R235M	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	235	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAGCTCCACCCTCTGCTCCTC	0.433													9	27					0.000274275	0.000599054	1	0	A	76728538	C	A	76728538	3	1	220	1	0	0	0	0	1	0	0	0	7781	681	24	4	1733	4	IMPG1	6	76728538	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	20357257	76728538	94386529	130	39345											
NUS1	116150	broad.mit.edu	37	chr6	118015291	118015291	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgccagttagtagcccaGaagcaaaagagacccacaga	15	7	9	10	0	0	3	0	0	0	3	0	4	0	3	3	0	3	3	3	0	5	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:118015291G>A	ENST00000368494.3	+	3	808	c.639G>A	c.(637-639)caG>caA	p.Q213Q		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	213					angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		TAGTAGCCCAGAAGCAAAAGA	0.368													5	73					0	0	0	0	A	118015291	G	A	118015291	2	1	220	1	0	0	0	0	0	0	0	1	10848	933	33	2		2	NUS1	6	118015291	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	41286753	118015291	53099776	131	39346											
MYB	4602	broad.mit.edu	37	chr6	135522834	135522834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctcacaccactgggaagggGacagtctgaatacccaactg	12	6	11	12	0	2	1	1	1	1	0	2	3	2	3	2	3	2	1	2	3	4	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:135522834G>A	ENST00000341911.5	+	14	2207	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	MYB_ENST00000316528.8_Missense_Mutation_p.D549N|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.D654N|MYB_ENST00000527615.1_Missense_Mutation_p.D549N|MYB_ENST00000442647.2_Missense_Mutation_p.D546N|MYB_ENST00000525369.1_Missense_Mutation_p.D464N|MYB_ENST00000534044.1_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.D667N|MYB_ENST00000533624.1_Missense_Mutation_p.D514N|MYB_ENST00000367814.4_Missense_Mutation_p.D549N	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	549					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CTGGGAAGGGGACAGTCTGAA	0.483			T	NFIB	adenoid cystic carcinoma								6	19					0	0	0	0	A	135522834	G	A	135522834	3	1	220	1	0	0	0	0	1	0	0	0	10077	1174	41	2	2062	2	MYB	6	135522834	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	17507543	135522834	35592233	132	39347											
GRM1	2911	broad.mit.edu	37	chr6	146480525	146480525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggacgctttcaaagagctgGctgcccaggaaggcctctgt	8	9	13	11	1	2	1	1	0	1	1	2	3	2	3	2	4	2	3	2	4	2	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:146480525G>T	ENST00000392299.2	+	3	1212	c.742G>T	c.(742-744)Gct>Tct	p.A248S	GRM1_ENST00000361719.2_Missense_Mutation_p.A248S|GRM1_ENST00000282753.1_Missense_Mutation_p.A248S|GRM1_ENST00000355289.4_Missense_Mutation_p.A248S|GRM1_ENST00000492807.2_Missense_Mutation_p.A248S|GRM1_ENST00000507907.1_Missense_Mutation_p.A248S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	248					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAAAGAGCTGGCTGCCCAGGA	0.502													17	55					2.35188e-11	6.52266e-11	1	0	T	146480525	G	T	146480525	3	4	220	1	0	0	0	0	1	0	0	0	6846	1203	42	4	748	4	GRM1	6	146480525	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	10957691	146480525	24634542	133	39348											
TAB2	23118	broad.mit.edu	37	chr6	149719163	149719163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccagattgacattgactGcttaaccaaagaaattgatc	15	11	6	9	0	0	5	0	3	0	2	2	5	1	5	2	0	2	1	2	0	3	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:149719163G>A	ENST00000367456.1	+	6	2400	c.1823G>A	c.(1822-1824)tGc>tAc	p.C608Y	TAB2_ENST00000538427.1_Missense_Mutation_p.C608Y|TAB2_ENST00000286332.5_Missense_Mutation_p.C608Y|TAB2_ENST00000536230.1_Missense_Mutation_p.C576Y			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	608					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GACATTGACTGCTTAACCAAA	0.353													5	16					0	0	0	0	A	149719163	G	A	149719163	3	1	220	1	0	0	0	0	1	0	0	0	15587	1319	46	4	1837	4	TAB2	6	149719163	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	3238638	149719163	21395904	134	39349											
LPA	4018	broad.mit.edu	37	chr6	161015034	161015034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgatgccagtgtggtgtCatagaggaccaagactgaca	11	9	12	9	0	2	4	1	2	1	2	2	5	2	5	2	2	1	0	2	2	2	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:161015034C>T	ENST00000447678.1	-	23	3705	c.3585G>A	c.(3583-3585)atG>atA	p.M1195I	LPA_ENST00000316300.5_Missense_Mutation_p.M1195I	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3703	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTGTGGTGTCATAGAGGACC	0.488													14	63					0	0	0	0	T	161015034	C	T	161015034	3	4	220	1	0	0	0	0	1	0	0	0	8967	826	29	2	2609	2	LPA	6	161015034	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	11295871	161015034	10100033	135	39350											
HGF	3082	broad.mit.edu	37	chr7	81386541	81386541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggaactccagggctgaCatttgatgccactcttagtg	9	12	10	10	0	2	2	1	2	1	0	3	3	3	3	2	2	2	1	2	2	2	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:81386541C>T	ENST00000222390.5	-	4	672	c.446G>A	c.(445-447)tGt>tAt	p.C149Y	HGF_ENST00000423064.2_Missense_Mutation_p.C149Y|HGF_ENST00000453018.1_Missense_Mutation_p.C46Y|HGF_ENST00000354224.6_Missense_Mutation_p.C149Y|HGF_ENST00000457544.2_Missense_Mutation_p.C149Y|HGF_ENST00000444829.2_Missense_Mutation_p.C149Y|HGF_ENST00000453411.1_Missense_Mutation_p.C149Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	149	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCAGGGCTGACATTTGATGCC	0.383													16	34					0	0	0	0	T	81386541	C	T	81386541	3	4	220	1	0	0	0	0	1	0	0	0	7135	478	17	4	1820	4	HGF	7	81386541	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08		81386541	77752122	136	39351											
GRM3	2913	broad.mit.edu	37	chr7	86493676	86493676	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctcatctctgtgattgtGaattgcagttcagttcttgt	7	17	8	9	0	4	2	2	2	2	0	5	2	4	2	1	0	1	3	1	0	1	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:86493676G>A	ENST00000394720.2	+	5	1749	c.1572G>A	c.(1570-1572)gtG>gtA	p.V524V	GRM3_ENST00000361669.2_3'UTR|GRM3_ENST00000546348.1_3'UTR|GRM3_ENST00000536043.1_3'UTR|GRM3_ENST00000439827.1_Silent_p.V526V			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTGTGATTGTGAATTGCAGTT	0.473													15	68					0	0	0	0	A	86493676	G	A	86493676	2	1	220	1	0	0	0	0	0	0	0	1	6848	1305	45	2		2	GRM3	7	86493676	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	5107135	86493676	72644987	137	39352											
KIAA1324L	222223	broad.mit.edu	37	chr7	86569411	86569411	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctccagtagagtatgttTgtgcctgatttcagcattac	8	16	9	8	0	2	2	1	1	1	1	3	2	2	2	2	0	3	5	2	0	3	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:86569411T>G	ENST00000450689.2	-	6	947	c.762A>C	c.(760-762)acA>acC	p.T254T	KIAA1324L_ENST00000416314.1_Silent_p.T87T|KIAA1324L_ENST00000297222.6_Silent_p.T14T|KIAA1324L_ENST00000444627.1_Silent_p.T254T	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	254						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AGAGTATGTTTGTGCCTGATT	0.398													12	43					0	0	0	0	G	86569411	T	G	86569411	2	3	220	1	0	0	0	0	0	0	0	1	8275	1799	63	5		5	KIAA1324L	7	86569411	Silent	SNP	T	TCGA-CR-7399-01A-11D-2012-08	75735	86569411	72569252	138	39353											
AKAP9	10142	broad.mit.edu	37	chr7	91694575	91694575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagacagaaaaattaatgaAggaaaaactagaagtacaat	23	6	9	3	0	0	4	0	1	0	3	0	6	0	5	0	2	2	1	0	2	10	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:91694575A>G	ENST00000359028.2	+	26	6269	c.6044A>G	c.(6043-6045)aAg>aGg	p.K2015R	AKAP9_ENST00000358100.2_Missense_Mutation_p.K2015R|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000356239.3_Missense_Mutation_p.K2003R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2015	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAATTAATGAAGGAAAAACTA	0.299			T	BRAF	papillary thyroid								28	27					0	0	0	0	G	91694575	A	G	91694575	3	3	220	1	0	0	0	0	1	0	0	0	459	72	3	5	6106	5	AKAP9	7	91694575	Missense_Mutation	SNP	A	TCGA-CR-7399-01A-11D-2012-08	5125164	91694575	67444088	139	39354											
GJC3	349149	broad.mit.edu	37	chr7	99526840	99526840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgagccacataagccCagagcagcctgaggcttcca	11	5	10	15	0	0	3	0	2	0	1	1	3	1	3	5	1	5	3	5	1	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:99526840C>A	ENST00000312891.2	-	1	403	c.404G>T	c.(403-405)tGg>tTg	p.W135L		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	135						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CACATAAGCCCAGAGCAGCCT	0.617													35	208					1.21669e-08	3.14788e-08	1	0	A	99526840	C	A	99526840	3	1	220	1	0	0	0	0	1	0	0	0	6467	595	21	4	443	4	GJC3	7	99526840	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	7832265	99526840	59611823	140	39355											
AZGP1	563	broad.mit.edu	37	chr7	99565930	99565930	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgggtcgaaggggaccCaggctgggatttctttgttg	5	12	16	8	1	1	0	0	0	1	0	2	3	1	2	1	5	1	3	1	5	1	3	rs145427176		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:99565930C>T	ENST00000411734.1	-	3	457	c.452G>A	c.(451-453)tGg>tAg	p.W151*	AZGP1_ENST00000292401.4_Nonsense_Mutation_p.W154*			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	154					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	p.W154S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GAAGGGGACCCAGGCTGGGAT	0.507													49	274					0	0	0	0	T	99565930	C	T	99565930	4	4	220	1	0	0	0	0	0	1	0	0	1243	595	21	4	443	4	AZGP1	7	99565930	Nonsense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	39090	99565930	59572733	141	39356											
LRRN3	54674	broad.mit.edu	37	chr7	110763775	110763775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatttaagaaaaatagaagCtactaacaaccctagattgt	19	10	6	6	0	0	4	0	0	0	4	0	4	0	4	1	0	4	1	1	0	9	7			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:110763775C>T	ENST00000451085.1	+	4	1993	c.947C>T	c.(946-948)gCt>gTt	p.A316V	IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.A316V|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.A316V|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000452895.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	316						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AAAATAGAAGCTACTAACAAC	0.418													19	42					0	0	0	0	T	110763775	C	T	110763775	3	4	220	1	0	0	0	0	1	0	0	0	9100	797	28	4	949	4	LRRN3	7	110763775	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	11197845	110763775	48374888	142	39357											
C7orf60	154743	broad.mit.edu	37	chr7	112462106	112462106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaattttgagtacttgaagCgtttaaagcccagggactct	13	12	9	7	1	1	2	0	2	1	0	1	3	1	3	1	1	3	2	1	1	6	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:112462106C>T	ENST00000297145.4	-	5	1076	c.911G>A	c.(910-912)cGc>cAc	p.R304H		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	304										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GTACTTGAAGCGTTTAAAGCC	0.398													15	39					0	0	0	0	T	112462106	C	T	112462106	3	4	220	1	0	0	0	0	1	0	0	0	2430	768	27	1	310	1	C7orf60	7	112462106	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	1698331	112462106	46676557	143	39358											
POT1	25913	broad.mit.edu	37	chr7	124482972	124482972	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggagctttttgtttcaaaAtggcacatagtggtgtcctc	9	14	11	7	0	1	0	1	0	0	0	3	2	2	1	1	3	1	3	1	3	3	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:124482972A>G	ENST00000357628.3	-	13	1650	c.1052T>C	c.(1051-1053)aTt>aCt	p.I351T	POT1_ENST00000393329.1_Missense_Mutation_p.I220T	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	351					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTGTTTCAAAATGGCACATAG	0.348													5	32					0	0	0	0	G	124482972	A	G	124482972	3	3	220	1	0	0	0	0	1	0	0	0	12332	101	4	5	880	5	POT1	7	124482972	Missense_Mutation	SNP	A	TCGA-CR-7399-01A-11D-2012-08	12020866	124482972	34655691	144	39359											
OR2A25	392138	broad.mit.edu	37	chr7	143771537	143771537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacatcgcctgtgcttgcagCacggtgccccagatgctggt	6	9	13	13	2	0	1	0	0	0	1	1	2	0	1	3	2	5	4	3	2	0	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:143771537C>A	ENST00000408898.2	+	1	263	c.225C>A	c.(223-225)agC>agA	p.S75R		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	75			S -> N (in dbSNP:rs6951485).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GTGCTTGCAGCACGGTGCCCC	0.557													37	44					3.62531e-18	1.07504e-17	1	0	A	143771537	C	A	143771537	3	1	220	1	0	0	0	0	1	0	0	0	11049	709	25	4	227	4	OR2A25	7	143771537	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	19288565	143771537	15367126	145	39360											
NOBOX	135935	broad.mit.edu	37	chr7	144098460	144098460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtctggggcctggagcGggctagagttctgtctttgt	4	13	16	8	1	3	2	0	1	3	1	3	3	3	3	1	4	1	2	1	4	1	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:144098460G>T	ENST00000467773.1	-	4	522	c.523C>A	c.(523-525)Cgc>Agc	p.R175S	NOBOX_ENST00000223140.5_Missense_Mutation_p.R90S|NOBOX_ENST00000483238.1_Missense_Mutation_p.R175S	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	175					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)					GGCCTGGAGCGGGCTAGAGTT	0.622													6	22					8.12818e-05	0.000182706	1	0	T	144098460	G	T	144098460	3	4	220	1	0	0	0	0	1	0	0	0	10582	1116	39	3	1484	3	NOBOX	7	144098460	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	326923	144098460	15040203	146	39361											
SSPO	23145	broad.mit.edu	37	chr7	149481149	149481149	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccagtgtgtgcccccCagcttgtgcccctgccagct	4	8	13	16	0	0	0	0	0	0	0	0	1	0	0	7	1	5	2	7	1	0	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:149481149C>G	ENST00000378016.2	+	0	2631							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGTGCCCCCCAGCTTGTGCC	0.657													3	14					0	0	0	0	G	149481149	C	G	149481149	1	3	220	0	1	0	0	0	0	0	0	0	15279	581	21	4		4	SSPO	7	149481149	RNA	SNP	C	TCGA-CR-7399-01A-11D-2012-08	5382689	149481149	9657514	147	39362											
GIMAP8	155038	broad.mit.edu	37	chr7	150174635	150174635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagataacaaagcccttcggCgcatttttaaaaagtgtggg	13	10	10	8	2	0	1	0	0	0	1	1	1	0	1	1	2	2	1	1	2	5	5	rs139453539		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:150174635C>T	ENST00000307271.3	+	5	2339	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	589						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.R589C(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGCCCTTCGGCGCATTTTTAA	0.463													16	83					0	0	0	0	T	150174635	C	T	150174635	3	4	220	1	0	0	0	0	1	0	0	0	6436	768	27	1	1779	1	GIMAP8	7	150174635	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	693486	150174635	8964028	148	39363											
HTR5A	3361	broad.mit.edu	37	chr7	154875975	154875975	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaaggagcagcgggccgcCctcatggtgggcatcctcat	8	6	14	13	2	2	1	2	0	0	1	3	2	3	2	3	4	2	2	3	4	1	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:154875975C>G	ENST00000287907.2	+	2	1428	c.852C>G	c.(850-852)gcC>gcG	p.A284A	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	284						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AGCGGGCCGCCCTCATGGTGG	0.637													24	45					0	0	0	0	G	154875975	C	G	154875975	2	3	220	1	0	0	0	0	0	0	0	1	7503	610	22	4		4	HTR5A	7	154875975	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	4701340	154875975	4262688	149	39364											
ANGPT2	285	broad.mit.edu	37	chr8	6378820	6378820	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttttctagttcttcaatGatggaattttgcttggatac	8	21	7	5	0	3	1	1	1	2	0	3	3	3	3	0	2	2	2	0	2	4	10			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:6378820G>A	ENST00000325203.5	-	4	1152	c.678C>T	c.(676-678)atC>atT	p.I226I	ANGPT2_ENST00000338312.6_Silent_p.I174I|ANGPT2_ENST00000415216.1_Silent_p.I226I|ANGPT2_ENST00000523120.1_Silent_p.I226I|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	226					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GTTCTTCAATGATGGAATTTT	0.373													8	42					0	0	0	0	A	6378820	G	A	6378820	2	1	220	1	0	0	0	0	0	0	0	1	611	1280	45	2		2	ANGPT2	8	6378820	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08		6378820	139985202	150	39365											
FAM160B2	64760	broad.mit.edu	37	chr8	21957263	21957263	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcctcacagccatgctGcgccagcttcgctcccctgc	4	8	8	21	2	1	0	1	0	0	0	4	0	3	0	6	0	5	3	6	0	0	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:21957263G>C	ENST00000289921.7	+	10	1246	c.1200G>C	c.(1198-1200)ctG>ctC	p.L400L		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	400										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CAGCCATGCTGCGCCAGCTTC	0.672													11	38					0	0	0	0	C	21957263	G	C	21957263	2	2	220	1	0	0	0	0	0	0	0	1	5512	1306	46	4		4	FAM160B2	8	21957263	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	15578443	21957263	124406759	151	39366											
ADAM7	8756	broad.mit.edu	37	chr8	24334017	24334017	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtcaattttgtcaacatGgtaagatttgatacagtttt	12	17	8	4	0	2	2	2	1	0	1	2	2	2	2	0	2	2	2	0	2	4	7			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:24334017G>A	ENST00000175238.6	+	8	788	c.705_splice	c.e8+1	p.M235_splice	ADAM7_ENST00000520720.1_Splice_Site_p.M7_splice|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Splice_Site_p.M235_splice|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	235	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGTCAACATGGTAAGATTTG	0.343													6	19					0	0	0	0	A	24334017	G	A	24334017	5	1	220	1	0	0	0	0	0	0	1	0	251	1362	47	4	735	4	ADAM7	8	24334017	Splice_Site	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2376754	24334017	122030005	152	39367											
ADAM7	8756	broad.mit.edu	37	chr8	24358343	24358343	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcttgtcctggttattgtCggtatcggagttcttatact	5	18	11	7	2	1	0	0	0	1	0	4	1	2	1	1	3	2	4	1	3	4	7	rs149009178		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:24358343C>T	ENST00000175238.6	+	19	2126	c.2043C>T	c.(2041-2043)gtC>gtT	p.V681V	ADAM7_ENST00000520720.1_Silent_p.V453V|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Silent_p.V681V|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	681					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGGTTATTGTCGGTATCGGAG	0.378													16	70					0	0	0	0	T	24358343	C	T	24358343	2	4	220	1	0	0	0	0	0	0	0	1	251	871	31	1		1	ADAM7	8	24358343	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	24326	24358343	122005679	153	39368											
ADRA1A	148	broad.mit.edu	37	chr8	26628171	26628171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcagagggcttgaaatcaGggaagaaagaccctggaaga	15	7	13	6	0	2	5	2	1	0	4	2	7	2	7	1	3	0	1	1	3	4	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:26628171G>T	ENST00000380573.3	-	3	1919	c.896C>A	c.(895-897)cCt>cAt	p.P299H	ADRA1A_ENST00000276393.4_Missense_Mutation_p.P299H|ADRA1A_ENST00000380586.1_Missense_Mutation_p.P299H|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380582.3_Missense_Mutation_p.P299H|ADRA1A_ENST00000519229.1_Missense_Mutation_p.P299H|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.P299H			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	299					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTTGAAATCAGGGAAGAAAGA	0.393													12	58					5.50884e-06	1.30286e-05	1	0	T	26628171	G	T	26628171	3	4	220	1	0	0	0	0	1	0	0	0	334	1000	35	4	799	4	ADRA1A	8	26628171	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2269828	26628171	119735851	154	39369											
FZD3	7976	broad.mit.edu	37	chr8	28413285	28413285	+	Frame_Shift_Del	DEL	G	G	-																															gagagccgacaggtactccaGgaacctgattttgctcagtc																										TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:28413285delG	ENST00000240093.3	+	7	2062	c.1584delG	c.(1582-1584)cafs	p.Q528fs	FZD3_ENST00000537916.1_Frame_Shift_Del_p.Q528fs	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	528					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AGGTACTCCAGGAACCTGATT	0.418													22	80	---	---	---	---					-	28413285	G	-	28413285	7	5	220	1	0	1	0	1	0	0	0	0	6179	991	35	0	1602	0	FZD3	8	28413285	Frame_Shift_Del	DEL	G	TCGA-CR-7399-01A-11D-2012-08	1785114	28413285	117950737	155	39370											
LETM2	137994	broad.mit.edu	37	chr8	38258566	38258566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagtctataaaagcagatGatgaagtaagagcttaacca	18	9	9	5	0	1	5	0	3	1	2	1	5	1	5	1	0	3	3	1	0	7	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:38258566G>A	ENST00000379957.4	+	6	1106	c.979G>A	c.(979-981)Gat>Aat	p.D327N	LETM2_ENST00000297720.5_Missense_Mutation_p.D232N|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000524874.1_Missense_Mutation_p.D279N|LETM2_ENST00000527710.1_Missense_Mutation_p.D113N|LETM2_ENST00000523983.2_Missense_Mutation_p.D280N|RP11-350N15.3_ENST00000533301.1_RNA	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	327	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			AAAAGCAGATGATGAAGTAAG	0.438													32	46					0	0	0	0	A	38258566	G	A	38258566	3	1	220	1	0	0	0	0	1	0	0	0	8788	1290	45	2	704	2	LETM2	8	38258566	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	9845281	38258566	108105456	156	39371											
ADAM32	203102	broad.mit.edu	37	chr8	39022556	39022556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctgtttttagatgttcaCccaatttaaagttactattg	10	19	5	7	0	2	1	1	0	1	1	2	1	2	1	1	0	1	3	1	0	6	10			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:39022556C>T	ENST00000379907.4	+	9	801	c.674C>T	c.(673-675)aCc>aTc	p.T225I	ADAM32_ENST00000519315.1_Missense_Mutation_p.T225I|ADAM32_ENST00000437682.2_Missense_Mutation_p.T232I	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	225	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TAGATGTTCACCCAATTTAAA	0.294													20	60					0	0	0	0	T	39022556	C	T	39022556	3	4	220	1	0	0	0	0	1	0	0	0	249	507	18	4	708	4	ADAM32	8	39022556	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	763990	39022556	107341466	157	39372											
CSPP1	79848	broad.mit.edu	37	chr8	68044264	68044264	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatttttgaagataaaccGaaaccttccaaacagtcact	15	12	5	9	1	1	3	1	2	0	1	2	4	2	3	3	0	3	0	3	0	5	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:68044264G>A	ENST00000262210.5	+	14	1792	c.1761G>A	c.(1759-1761)ccG>ccA	p.P587P	CSPP1_ENST00000412460.1_Silent_p.P293P	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	622						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGATAAACCGAAACCTTCCA	0.353													11	60					0	0	0	0	A	68044264	G	A	68044264	2	1	220	1	0	0	0	0	0	0	0	1	3994	1045	37	1		1	CSPP1	8	68044264	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	29021708	68044264	78319758	158	39373											
KCNB2	9312	broad.mit.edu	37	chr8	73480118	73480118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaccacgaagtcctgtGgagaacgctggacaggctgc	10	6	12	13	2	1	1	1	0	0	1	2	4	2	2	3	3	3	2	3	3	3	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:73480118G>T	ENST00000523207.1	+	2	737	c.149G>T	c.(148-150)tGg>tTg	p.W50L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	50					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAAGTCCTGTGGAGAACGCTG	0.557													41	87					8.48111e-28	2.62608e-27	1	0	T	73480118	G	T	73480118	3	4	220	1	0	0	0	0	1	0	0	0	8066	1357	47	4	151	4	KCNB2	8	73480118	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	5435854	73480118	72883904	159	39374											
GEM	2669	broad.mit.edu	37	chr8	95272561	95272561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtggagtcagaggaccaGcttcggcggcagtggtcctc	6	9	15	11	2	2	1	1	0	1	1	5	3	3	3	2	5	1	2	2	5	0	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:95272561G>T	ENST00000297596.2	-	2	435	c.171C>A	c.(169-171)agC>agA	p.S57R	GEM_ENST00000396194.2_Missense_Mutation_p.S57R	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	57					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAGAGGACCAGCTTCGGCGGC	0.602													8	71					5.18039e-06	1.22895e-05	1	0	T	95272561	G	T	95272561	3	4	220	1	0	0	0	0	1	0	0	0	6380	962	34	4	735	4	GEM	8	95272561	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	21792443	95272561	51091461	160	39375											
GDF6	392255	broad.mit.edu	37	chr8	97156802	97156802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaccgctacctgcagcCgcacgactccaccaccatgt	10	5	8	18	3	0	0	0	0	0	0	1	1	1	0	6	1	3	4	6	1	2	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:97156802C>T	ENST00000287020.5	-	2	1456	c.1357G>A	c.(1357-1359)Ggc>Agc	p.G453S		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	453					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					TACCTGCAGCCGCACGACTCC	0.622													5	15					0	0	0	0	T	97156802	C	T	97156802	3	4	220	1	0	0	0	0	1	0	0	0	6368	652	23	1	14	1	GDF6	8	97156802	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	1884241	97156802	49207220	161	39376											
VPS13B	157680	broad.mit.edu	37	chr8	100874157	100874157	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacagggcctgtcccggcTgggcatcagcctgcttggta	5	9	14	13	2	1	0	1	0	0	0	3	1	2	0	3	4	2	4	3	4	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:100874157T>A	ENST00000358544.2	+	58	11384	c.11273T>A	c.(11272-11274)cTg>cAg	p.L3758Q	VPS13B_ENST00000357162.2_Missense_Mutation_p.L3733Q|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3758					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGTCCCGGCTGGGCATCAGC	0.672													3	7					0	0	0	0	A	100874157	T	A	100874157	3	1	220	1	0	0	0	0	1	0	0	0	17286	1580	55	5	11693	5	VPS13B	8	100874157	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	3717355	100874157	45489865	162	39377											
DPYS	1807	broad.mit.edu	37	chr8	105463544	105463544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttgggatcagcccagcttCgccaggtctcgaaggcctca	7	9	11	14	2	3	0	2	0	1	0	5	2	3	1	3	3	2	1	3	3	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:105463544C>T	ENST00000351513.2	-	2	485	c.353G>A	c.(352-354)cGa>cAa	p.R118Q		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	118					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCCAGCTTCGCCAGGTCTC	0.522													10	52					0	0	0	0	T	105463544	C	T	105463544	3	4	220	1	0	0	0	0	1	0	0	0	4782	884	31	1	1238	1	DPYS	8	105463544	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	4589387	105463544	40900478	163	39378											
CSMD3	114788	broad.mit.edu	37	chr8	113243843	113243843	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaatacataagtagctcCatcaggctcagcagaaacct	15	9	7	10	0	2	2	2	1	0	1	3	2	3	2	2	1	4	4	2	1	5	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:113243843C>A	ENST00000297405.5	-	69	11003	c.10759G>T	c.(10759-10761)Gga>Tga	p.G3587*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G3547*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G3517*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G3418*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3587						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAGTAGCTCCATCAGGCTCA	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	112					0.000151284	0.000337111	1	0	A	113243843	C	A	113243843	4	1	220	1	0	0	0	0	0	1	0	0	3978	603	21	4	376	4	CSMD3	8	113243843	Nonsense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	7780299	113243843	33120179	164	39379											
ADCY8	114	broad.mit.edu	37	chr8	131916241	131916241	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catggccctcttccacgttaTagtcaccgttgagacagtcc	8	11	8	14	2	2	1	1	1	1	1	4	2	4	1	4	1	0	2	4	1	2	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:131916241T>C	ENST00000286355.5	-	7	3780	c.1688A>G	c.(1687-1689)tAt>tGt	p.Y563C	ADCY8_ENST00000377928.3_Missense_Mutation_p.Y563C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	563					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTCCACGTTATAGTCACCGTT	0.468										HNSCC(32;0.087)			35	211					0	0	0	0	C	131916241	T	C	131916241	3	2	220	1	0	0	0	0	1	0	0	0	300	1406	49	5	2115	5	ADCY8	8	131916241	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	18672398	131916241	14447781	165	39380											
KCNQ3	3786	broad.mit.edu	37	chr8	133142133	133142133	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctctgcttcagctggCgaggaggtgcccttggttgg	3	14	14	10	1	3	0	1	0	2	0	4	2	3	1	1	5	3	3	1	5	0	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:133142133C>A	ENST00000388996.4	-	15	2415	c.1995G>T	c.(1993-1995)tcG>tcT	p.S665S	KCNQ3_ENST00000521134.1_Silent_p.S545S|KCNQ3_ENST00000519445.1_Silent_p.S653S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	665					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S665S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTTCAGCTGGCGAGGAGGTGC	0.532													17	115					3.32936e-07	8.28044e-07	1	0	A	133142133	C	A	133142133	2	1	220	1	0	0	0	0	0	0	0	1	8137	755	27	3		3	KCNQ3	8	133142133	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	1225892	133142133	13221889	166	39381											
KHDRBS3	10656	broad.mit.edu	37	chr8	136594270	136594270	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagtccccccaactgggtAcagacctccaccgccacccc	9	4	8	20	1	0	1	0	0	0	1	2	2	2	2	9	2	2	1	9	2	2	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:136594270A>T	ENST00000355849.5	+	6	1171	c.761A>T	c.(760-762)tAc>tTc	p.Y254F	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	254	Pro-rich.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			CCAACTGGGTACAGACCTCCA	0.557													6	56					0	0	0	0	T	136594270	A	T	136594270	3	4	220	1	0	0	0	0	1	0	0	0	8199	391	14	5	783	5	KHDRBS3	8	136594270	Missense_Mutation	SNP	A	TCGA-CR-7399-01A-11D-2012-08	3452137	136594270	9769752	167	39382											
FAM135B	51059	broad.mit.edu	37	chr8	139323163	139323163	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcactcggatctggtaataCctaagaaaagagaagaggac	16	7	11	7	1	2	3	1	0	1	3	3	6	2	5	1	3	1	1	1	3	6	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:139323163C>T	ENST00000395297.1	-	3	248	c.77_splice	c.e3-1	p.G26_splice		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	26										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTGGTAATACCTAAGAAAAG	0.468										HNSCC(54;0.14)			10	55					0	0	0	0	T	139323163	C	T	139323163	5	4	220	1	0	0	0	0	0	0	1	0	5490	521	18	4	4214	4	FAM135B	8	139323163	Splice_Site	SNP	C	TCGA-CR-7399-01A-11D-2012-08	2728893	139323163	7040859	168	39383											
DENND3	22898	broad.mit.edu	37	chr8	142188188	142188188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcactacgtccagcaggCgctgaccaacgtcttgctga	8	8	9	16	3	2	2	1	2	1	0	3	2	3	2	3	1	4	3	3	1	2	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:142188188C>T	ENST00000519811.1	+	16	2799	c.2729C>T	c.(2728-2730)gCg>gTg	p.A910V	DENND3_ENST00000424248.1_Missense_Mutation_p.A778V|DENND3_ENST00000262585.2_Missense_Mutation_p.A830V|DENND3_ENST00000518806.1_3'UTR			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	830								p.A830V(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCCAGCAGGCGCTGACCAAC	0.517													14	45					0	0	0	0	T	142188188	C	T	142188188	3	4	220	1	0	0	0	0	1	0	0	0	4469	768	27	1	2547	1	DENND3	8	142188188	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	2865025	142188188	4175834	169	39384											
CYP11B2	1585	broad.mit.edu	37	chr8	143994781	143994781	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcactgatgctggctgcGgcggccaggctctcctggcg	3	10	15	13	3	2	1	1	1	1	0	3	1	2	1	2	5	2	4	2	5	0	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:143994781G>T	ENST00000323110.2	-	6	1043	c.1041C>A	c.(1039-1041)gcC>gcA	p.A347A		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	347					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TGCTGGCTGCGGCGGCCAGGC	0.642									Familial Hyperaldosteronism type I				15	93					3.45872e-05	7.96021e-05	1	0	T	143994781	G	T	143994781	2	4	220	1	0	0	0	0	0	0	0	1	4178	1103	39	3		3	CYP11B2	8	143994781	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	1806593	143994781	2369241	170	39385											
KIAA1432	57589	broad.mit.edu	37	chr9	5765719	5765719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaagcatcagtttatccCagtcagctgaaaatgttcct	12	12	7	10	1	2	1	2	1	0	0	5	2	4	1	2	0	2	4	2	0	4	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:5765719C>A	ENST00000414202.2	+	21	3249	c.3058C>A	c.(3058-3060)Cag>Aag	p.Q1020K	KIAA1432_ENST00000251879.6_Missense_Mutation_p.Q1020K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.Q941K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.Q904K|KIAA1432_ENST00000381532.2_Missense_Mutation_p.Q941K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1020						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CAGTTTATCCCAGTCAGCTGA	0.398													23	2725					0.00010058	0.000225428	1	0	A	5765719	C	A	5765719	3	1	220	1	0	0	0	0	1	0	0	0	8284	595	21	4	2899	4	KIAA1432	9	5765719	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08		5765719	135447712	171	39386											
IFNA4	3441	broad.mit.edu	37	chr9	21187364	21187364	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggaatccgaaatcatgtCtgtccttcaggcaggagaaa	12	8	12	9	2	3	1	2	0	1	1	5	4	5	2	2	4	0	1	2	4	3	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:21187364C>A	ENST00000421715.1	-	1	234	c.167G>T	c.(166-168)aGa>aTa	p.R56I		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	56					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAAATCATGTCTGTCCTTCAG	0.522													98	140					5.34484e-38	1.67515e-37	1	0	A	21187364	C	A	21187364	3	1	220	1	0	0	0	0	1	0	0	0	7592	913	32	2	406	2	IFNA4	9	21187364	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	15421645	21187364	120026067	172	39387											
RECK	8434	broad.mit.edu	37	chr9	36083451	36083451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacagactcttctcctggtCcatctcagataaaagcagtg	12	10	8	11	0	3	2	1	0	3	2	6	3	4	2	2	1	2	1	2	1	3	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:36083451C>T	ENST00000377966.3	+	8	1095	c.529C>T	c.(529-531)Cca>Tca	p.P177S	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	177	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTCTCCTGGTCCATCTCAGAT	0.408													15	89					0	0	0	0	T	36083451	C	T	36083451	3	4	220	1	0	0	0	0	1	0	0	0	13282	855	30	2	559	2	RECK	9	36083451	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	14896087	36083451	105129980	173	39388											
FBXO10	26267	broad.mit.edu	37	chr9	37518331	37518331	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgttggccactcgggTgggttggctgctctgggcca	2	12	17	10	1	1	0	0	0	1	0	2	0	1	0	2	5	1	6	2	5	0	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:37518331T>A	ENST00000432825.2	-	9	2353	c.2305A>T	c.(2305-2307)Acc>Tcc	p.T769S	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.T294S	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	769						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GCCACTCGGGTGGGTTGGCTG	0.567													23	24					0	0	0	0	A	37518331	T	A	37518331	3	1	220	1	0	0	0	0	1	0	0	0	5771	1696	59	5	577	5	FBXO10	9	37518331	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	1434880	37518331	103695100	174	39389											
DCAF10	79269	broad.mit.edu	37	chr9	37860055	37860055	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatctcaggagtttcaccAcgaaatagtcttgaagtcgt	12	13	8	8	2	3	1	2	1	2	0	5	3	3	2	1	1	0	1	1	1	5	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:37860055A>G	ENST00000242323.7	+	5	1139	c.1065A>G	c.(1063-1065)ccA>ccG	p.P355P	DCAF10_ENST00000483167.1_3'UTR|RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Silent_p.P392P			Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	392	Ser-rich.					CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						GAGTTTCACCACGAAATAGTC	0.448													4	77					0	0	0	0	G	37860055	A	G	37860055	2	3	220	1	0	0	0	0	0	0	0	1	4294	146	6	5		5	DCAF10	9	37860055	Silent	SNP	A	TCGA-CR-7399-01A-11D-2012-08	341724	37860055	103353376	175	39390											
TRPM3	80036	broad.mit.edu	37	chr9	73151901	73151901	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggaactagtagcccggtgTaggctcagggacctttcttt	7	12	13	9	1	2	0	1	0	1	0	2	2	2	2	2	4	2	3	2	4	4	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:73151901T>A	ENST00000377110.2	-	25	4335	c.4092A>T	c.(4090-4092)ctA>ctT	p.L1364L	TRPM3_ENST00000396292.4_Silent_p.L1236L|TRPM3_ENST00000377105.1_Silent_p.L1223L|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Silent_p.L1223L|TRPM3_ENST00000357533.2_Silent_p.L1368L|TRPM3_ENST00000396280.5_Silent_p.L1213L|TRPM3_ENST00000358082.3_Silent_p.L1226L|TRPM3_ENST00000408909.2_Silent_p.L1223L|TRPM3_ENST00000423814.3_Silent_p.L1391L|TRPM3_ENST00000360823.2_Silent_p.L1226L|TRPM3_ENST00000377106.1_Silent_p.L1236L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1389						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TAGCCCGGTGTAGGCTCAGGG	0.463													36	114					0	0	0	0	A	73151901	T	A	73151901	2	1	220	1	0	0	0	0	0	0	0	1	16682	1625	57	5		5	TRPM3	9	73151901	Silent	SNP	T	TCGA-CR-7399-01A-11D-2012-08	35291846	73151901	68061530	176	39391											
PAPPA	5069	broad.mit.edu	37	chr9	118973930	118973930	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacaggtggcattgtctTgaacccatctttctatggca	8	14	8	11	0	3	1	0	1	3	0	3	1	3	1	2	3	2	2	2	3	3	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:118973930T>A	ENST00000328252.3	+	4	2006	c.1637T>A	c.(1636-1638)tTg>tAg	p.L546*	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	546	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGCATTGTCTTGAACCCATCT	0.502													22	64					0	0	0	0	A	118973930	T	A	118973930	4	1	220	1	0	0	0	0	0	1	0	0	11503	1821	63	5	1651	5	PAPPA	9	118973930	Nonsense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	45822029	118973930	22239501	177	39392											
OR1L3	26735	broad.mit.edu	37	chr9	125438052	125438052	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccatttgtctgtatcaTcatctcttatctaagaattc	9	17	5	10	0	5	1	2	0	3	1	8	1	6	1	1	1	0	2	1	1	4	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:125438052T>C	ENST00000304820.2	+	1	738	c.644T>C	c.(643-645)aTc>aCc	p.I215T		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GTCTGTATCATCATCTCTTAT	0.488													22	91					0	0	0	0	C	125438052	T	C	125438052	3	2	220	1	0	0	0	0	1	0	0	0	11035	1435	50	5	646	5	OR1L3	9	125438052	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	6464122	125438052	15775379	178	39393											
GDI2	2665	broad.mit.edu	37	chr10	5836966	5836966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttacctctgtataaagcagCatcttaaccagctgacctag	12	11	7	11	0	2	1	0	1	2	0	2	1	2	1	3	0	5	5	3	0	6	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:5836966C>T	ENST00000380191.4	-	4	560	c.270G>A	c.(268-270)atG>atA	p.M90I	GDI2_ENST00000380132.4_Missense_Mutation_p.M94I|GDI2_ENST00000380181.3_Intron	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	90					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TATAAAGCAGCATCTTAACCA	0.333													27	37					0	0	0	0	T	5836966	C	T	5836966	3	4	220	1	0	0	0	0	1	0	0	0	6372	710	25	4	1099	4	GDI2	10	5836966	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08		5836966	129697781	179	39394											
GATA3	2625	broad.mit.edu	37	chr10	8100316	8100316	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggatccctaccctggcTggacggcggcaaagccctgg	7	7	13	14	2	1	0	1	0	0	0	2	2	2	2	3	6	2	2	3	6	2	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:8100316T>A	ENST00000379328.3	+	3	858	c.290T>A	c.(289-291)cTg>cAg	p.L97Q	GATA3_ENST00000346208.3_Missense_Mutation_p.L97Q	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	97					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CTACCCTGGCTGGACGGCGGC	0.687			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						15	98					0	0	0	0	A	8100316	T	A	8100316	3	1	220	1	0	0	0	0	1	0	0	0	6304	1580	55	5	296	5	GATA3	10	8100316	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	2263350	8100316	127434431	180	39395											
MBL2	4153	broad.mit.edu	37	chr10	54529051	54529051	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgcagagcttttctttctGaggcagccaggctactatca	8	14	9	10	0	3	2	1	1	2	1	3	2	3	2	1	2	4	4	1	2	2	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:54529051G>C	ENST00000373968.3	-	3	393	c.329C>G	c.(328-330)tCa>tGa	p.S110*	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	110					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTTTCTTTCTGAGGCAGCCAG	0.408													19	106					0	0	0	0	C	54529051	G	C	54529051	4	2	220	1	0	0	0	0	0	1	0	0	9419	1294	45	2	425	2	MBL2	10	54529051	Nonsense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	46428735	54529051	81005696	181	39396											
PCDH15	65217	broad.mit.edu	37	chr10	55892736	55892736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttgattatttggtggaaGcacttcaatatacacagtgc	11	14	9	7	0	1	1	1	1	0	0	1	2	1	2	0	2	3	2	0	2	5	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:55892736G>T	ENST00000373965.2	-	16	2231	c.1837C>A	c.(1837-1839)Ctt>Att	p.L613I	PCDH15_ENST00000395446.1_Missense_Mutation_p.L606I|PCDH15_ENST00000395430.1_Missense_Mutation_p.L606I|PCDH15_ENST00000395438.1_Missense_Mutation_p.L606I|PCDH15_ENST00000409834.1_Missense_Mutation_p.L217I|PCDH15_ENST00000320301.6_Missense_Mutation_p.L606I|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.L569I|PCDH15_ENST00000361849.3_Missense_Mutation_p.L606I|PCDH15_ENST00000395445.1_Missense_Mutation_p.L613I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.L611I|PCDH15_ENST00000373955.1_Missense_Mutation_p.L606I|PCDH15_ENST00000395433.1_Missense_Mutation_p.L584I|PCDH15_ENST00000373957.3_Missense_Mutation_p.L584I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	606	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTGGTGGAAGCACTTCAATA	0.408										HNSCC(58;0.16)			6	26					8.12818e-05	0.000182706	1	0	T	55892736	G	T	55892736	3	4	220	1	0	0	0	0	1	0	0	0	11582	971	34	4	5746	4	PCDH15	10	55892736	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	1363685	55892736	79642011	182	39397											
RTKN2	219790	broad.mit.edu	37	chr10	63957982	63957982	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtttatcagaaggaggaagGggagcttgtctctttttccc	9	13	12	7	0	2	1	1	0	1	1	4	4	3	4	1	4	1	2	1	4	3	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:63957982G>A	ENST00000373789.3	-	12	1611	c.1515C>T	c.(1513-1515)ccC>ccT	p.P505P	RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	505					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AAGGAGGAAGGGGAGCTTGTC	0.398													29	123					0	0	0	0	A	63957982	G	A	63957982	2	1	220	1	0	0	0	0	0	0	0	1	13808	1219	43	4		4	RTKN2	10	63957982	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	8065246	63957982	71576765	183	39398											
CTNNA3	29119	broad.mit.edu	37	chr10	67726465	67726465	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagaacttaatctgttccaGgtaggccaacaagtcctgtt	11	12	9	9	0	1	1	0	0	1	1	3	1	3	1	3	2	2	4	3	2	6	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:67726465G>A	ENST00000433211.1	-	17	2479	c.2305C>T	c.(2305-2307)Ctg>Ttg	p.L769L	CTNNA3_ENST00000373744.4_Silent_p.L769L|CTNNA3_ENST00000373735.1_Silent_p.L108L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	769					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATCTGTTCCAGGTAGGCCAAC	0.403													12	46					0	0	0	0	A	67726465	G	A	67726465	2	1	220	1	0	0	0	0	0	0	0	1	4046	991	35	4		4	CTNNA3	10	67726465	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	3768483	67726465	67808282	184	39399											
CTNNA3	29119	broad.mit.edu	37	chr10	68936676	68936676	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccctagagactccagaaaaTaatgcattcctccaacaatt	15	10	4	12	0	0	2	0	0	0	2	4	3	4	2	4	0	2	1	4	0	6	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:68936676T>C	ENST00000545309.1	-	7	1113	c.1114A>G	c.(1114-1116)Att>Gtt	p.I372V	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron			Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	0					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ctccagaaaataatgcattcc	0.428													4	8					0	0	0	0	C	68936676	T	C	68936676	3	2	220	1	0	0	0	0	1	0	0	0	4046	1421	49	5		5	CTNNA3	10	68936676	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	1210211	68936676	66598071	185	39400											
LRIT1	26103	broad.mit.edu	37	chr10	85992040	85992040	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataacacactgctccttccgGggcaccaggccctgcacaca	10	6	8	17	1	0	0	0	0	0	0	2	0	2	0	4	3	3	3	4	3	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:85992040G>T	ENST00000372105.3	-	4	1536	c.1515C>A	c.(1513-1515)ccC>ccA	p.P505P		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	505	Fibronectin type-III.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCTCCTTCCGGGGCACCAGGC	0.552													6	15					8.12818e-05	0.000182706	1	0	T	85992040	G	T	85992040	2	4	220	1	0	0	0	0	0	0	0	1	9011	1219	43	4		4	LRIT1	10	85992040	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	17055364	85992040	49542707	186	39401											
PLCE1	51196	broad.mit.edu	37	chr10	96064340	96064340	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaagaactgccccatgtatCagaagttttctccactagaa	14	10	6	11	0	2	3	1	0	1	3	3	3	2	3	3	0	2	2	3	0	6	4	rs121912604		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:96064340C>T	ENST00000260766.3	+	25	6194	c.5560C>T	c.(5560-5562)Cag>Tag	p.Q1854*	PLCE1_ENST00000371380.2_Nonsense_Mutation_p.Q1854*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.Q1546*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.Q1546*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1854					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCCCATGTATCAGAAGTTTTC	0.433													18	80					0	0	0	0	T	96064340	C	T	96064340	4	4	220	1	0	0	0	0	0	1	0	0	12106	827	29	2	5940	2	PLCE1	10	96064340	Nonsense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	10072300	96064340	39470407	187	39402											
C10orf76	79591	broad.mit.edu	37	chr10	103771498	103771498	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accatatttgttaaagcagaGaaaaaaccactttggtgttc	15	12	7	7	0	0	1	0	0	0	1	1	2	0	1	2	1	2	3	2	1	6	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:103771498G>C	ENST00000370033.4	-	11	932	c.813C>G	c.(811-813)ttC>ttG	p.F271L		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	271						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTAAAGCAGAGAAAAAACCAC	0.358													8	32					0	0	0	0	C	103771498	G	C	103771498	3	2	220	1	0	0	0	0	1	0	0	0	1626	933	33	2	1320	2	C10orf76	10	103771498	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	7707158	103771498	31763249	188	39403											
COL17A1	1308	broad.mit.edu	37	chr10	105793987	105793987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgtgaggaggagctgctaCcccgactgtgggaggcatcc	7	8	16	10	1	0	1	0	1	0	0	1	5	1	4	3	4	3	3	3	4	1	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:105793987C>T	ENST00000353479.5	-	52	4162	c.3872G>A	c.(3871-3873)gGt>gAt	p.G1291D	COL17A1_ENST00000369733.3_Missense_Mutation_p.G1209D	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1291	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGAGCTGCTACCCCGACTGTG	0.672													4	21					0	0	0	0	T	105793987	C	T	105793987	3	4	220	1	0	0	0	0	1	0	0	0	3704	507	18	4	641	4	COL17A1	10	105793987	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	2022489	105793987	29740760	189	39404											
SORCS1	114815	broad.mit.edu	37	chr10	108377909	108377909	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgagatgggcactcaccaTatactgcgatggtctttgtg	9	12	11	9	1	2	1	1	1	1	1	2	3	2	1	1	2	2	1	1	2	2	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:108377909T>A	ENST00000263054.6	-	21	2925	c.2918A>T	c.(2917-2919)tAt>tTt	p.Y973F	SORCS1_ENST00000369698.1_Missense_Mutation_p.Y508F|SORCS1_ENST00000344440.6_Missense_Mutation_p.Y973F|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	973						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCACTCACCATATACTGCGAT	0.478													13	61					0	0	0	0	A	108377909	T	A	108377909	3	1	220	1	0	0	0	0	1	0	0	0	15018	1406	49	5	846	5	SORCS1	10	108377909	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	2583922	108377909	27156838	190	39405											
KNDC1	85442	broad.mit.edu	37	chr10	135012615	135012615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtcccagagaggccgcGgcccgcagaccggaggctct	7	4	15	15	4	1	2	0	0	1	2	2	4	2	3	4	4	0	2	4	4	0	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:135012615G>T	ENST00000304613.3	+	14	2624	c.2603G>T	c.(2602-2604)cGg>cTg	p.R868L	KNDC1_ENST00000368571.2_Missense_Mutation_p.R803L|KNDC1_ENST00000368572.2_Missense_Mutation_p.R868L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	868	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGAGGCCGCGGCCCGCAGAC	0.731													4	12					0.00024832	0.000545455	1	0	T	135012615	G	T	135012615	3	4	220	1	0	0	0	0	1	0	0	0	8478	1116	39	3	2657	3	KNDC1	10	135012615	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	26634706	135012615	522132	191	39406											
OR51G1	79324	broad.mit.edu	37	chr11	4945221	4945221	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaatggacatggataacaGaactgatgactccattgaag	15	9	10	7	0	1	4	1	3	0	1	2	6	2	6	1	2	2	0	1	2	4	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:4945221G>A	ENST00000321961.2	-	1	416	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGATAACAGAACTGATGAC	0.507													10	30					0	0	0	0	A	4945221	G	A	4945221	2	1	220	1	0	0	0	0	0	0	0	1	11169	933	33	2		2	OR51G1	11	4945221	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08		4945221	130061295	192	39407											
OR51I2	390064	broad.mit.edu	37	chr11	5474807	5474807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcactcctggctgtcagggcCcctctgcgtgatgtatgctg	4	12	12	13	1	3	1	2	1	1	0	4	1	4	1	3	2	2	3	3	2	1	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:5474807C>A	ENST00000341449.2	+	1	170	c.89C>A	c.(88-90)cCc>cAc	p.P30H	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCAGGGCCCCTCTGCGTG	0.557													19	29					2.35188e-11	6.52266e-11	1	0	A	5474807	C	A	5474807	3	1	220	1	0	0	0	0	1	0	0	0	11172	623	22	4	91	4	OR51I2	11	5474807	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	529586	5474807	129531709	193	39408											
TRIM5	85363	broad.mit.edu	37	chr11	5701005	5701005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttacttggtactcccgggCaacctcctctgtgaggaacg	7	11	10	13	2	2	1	0	1	2	0	4	2	4	2	3	3	4	2	3	3	4	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:5701005C>A	ENST00000305836.5	-	2	705	c.403G>T	c.(403-405)Gcc>Tcc	p.A135S	TRIM5_ENST00000380027.1_Missense_Mutation_p.A135S|TRIM5_ENST00000396853.4_Missense_Mutation_p.A135S|TRIM5_ENST00000380034.3_Missense_Mutation_p.A135S|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_Missense_Mutation_p.A135S|TRIM5_ENST00000396855.3_Missense_Mutation_p.A135S			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	135					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TACTCCCGGGCAACCTCCTCT	0.512													11	53					6.40141e-05	0.000145161	1	0	A	5701005	C	A	5701005	3	1	220	1	0	0	0	0	1	0	0	0	16620	710	25	4	1345	4	TRIM5	11	5701005	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	226198	5701005	129305511	194	39409											
OR52N1	79473	broad.mit.edu	37	chr11	5809561	5809561	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaggcgcttggtgaggaaAgtggaagggataacaagcat	14	6	17	4	1	0	1	0	1	0	0	0	5	0	5	0	6	2	2	0	6	5	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:5809561A>C	ENST00000317078.1	-	1	485	c.486T>G	c.(484-486)acT>acG	p.T162T	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGGTGAGGAAAGTGGAAGGGA	0.498													10	33					0	0	0	0	C	5809561	A	C	5809561	2	2	220	1	0	0	0	0	0	0	0	1	11198	59	3	5		5	OR52N1	11	5809561	Silent	SNP	A	TCGA-CR-7399-01A-11D-2012-08	108556	5809561	129196955	195	39410											
OR56A1	120796	broad.mit.edu	37	chr11	6048932	6048932	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacgccataggctgaatCatgagctgagtaggcttctg	9	10	14	8	1	2	4	1	4	1	0	2	4	2	4	1	3	1	4	1	3	3	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:6048932C>A	ENST00000316650.5	-	1	39	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGCTGAATCATGAGCTGAG	0.458													31	86					8.16721e-17	2.39427e-16	1	0	A	6048932	C	A	6048932	1	1	220	1	0	0	0	0	0	0	0	0	11204	826	29	2		2	OR56A1	11	6048932	Translation_Start_Site	SNP	C	TCGA-CR-7399-01A-11D-2012-08	239371	6048932	128957584	196	39411											
ABCC8	6833	broad.mit.edu	37	chr11	17426158	17426158	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacataggagatgacggccAgggctgagacacagagcagg	13	4	16	8	1	0	5	0	3	0	3	0	7	0	5	1	4	1	2	1	4	1	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:17426158A>T	ENST00000302539.4	-	28	3586	c.3461T>A	c.(3460-3462)cTg>cAg	p.L1154Q	ABCC8_ENST00000389817.3_Missense_Mutation_p.L1153Q	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1153	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GATGACGGCCAGGGCTGAGAC	0.597													8	12					0	0	0	0	T	17426158	A	T	17426158	3	4	220	1	0	0	0	0	1	0	0	0	58	188	7	5	1335	5	ABCC8	11	17426158	Missense_Mutation	SNP	A	TCGA-CR-7399-01A-11D-2012-08	11377226	17426158	117580358	197	39412											
SLC17A6	57084	broad.mit.edu	37	chr11	22396420	22396420	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacgacagtgagaaagatCatgaattgtggtggtaagta	15	10	12	4	1	1	3	1	2	0	2	1	5	1	3	0	2	1	2	0	2	5	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:22396420C>A	ENST00000263160.3	+	9	1598	c.1161C>A	c.(1159-1161)atC>atA	p.I387I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	387					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGAGAAAGATCATGAATTGTG	0.353													24	85					1.85244e-09	4.89121e-09	1	0	A	22396420	C	A	22396420	2	1	220	1	0	0	0	0	0	0	0	1	14509	816	29	2		2	SLC17A6	11	22396420	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	4970262	22396420	112610096	198	39413											
OR4A5	81318	broad.mit.edu	37	chr11	51411502	51411502	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagttaactttttacccaaGagtttttctatagcatttct	11	19	4	7	0	2	1	0	0	2	1	2	1	2	1	1	0	3	3	1	0	6	10			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:51411502G>C	ENST00000319760.6	-	1	946	c.894C>G	c.(892-894)ctC>ctG	p.L298L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TTTTACCCAAGAGTTTTTCTA	0.353													4	10					0	0	0	0	C	51411502	G	C	51411502	2	2	220	1	0	0	0	0	0	0	0	1	11114	929	33	2		2	OR4A5	11	51411502	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	29015082	51411502	83595014	199	39414											
OR5D14	219436	broad.mit.edu	37	chr11	55563722	55563722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgactgtactaaaaatcCgttctgttagtgggcgccac	9	13	10	9	2	1	1	0	1	1	0	2	1	2	1	2	1	1	3	2	1	5	5	rs143761060		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:55563722C>A	ENST00000335605.1	+	1	691	c.691C>A	c.(691-693)Cgt>Agt	p.R231S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ACTAAAAATCCGTTCTGTTAG	0.473													15	81					3.45872e-05	7.96021e-05	1	0	A	55563722	C	A	55563722	3	1	220	1	0	0	0	0	1	0	0	0	11226	652	23	3	693	3	OR5D14	11	55563722	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	4152220	55563722	79442794	200	39415											
OR5L1	219437	broad.mit.edu	37	chr11	55579653	55579653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagggcaggcacaaagcCttctccacctgtgcttccca	9	7	10	15	0	1	1	0	0	1	1	3	1	2	1	4	2	2	4	4	2	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:55579653C>T	ENST00000333973.2	+	1	800	c.711C>T	c.(709-711)gcC>gcT	p.A237A		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGCACAAAGCCTTCTCCACCT	0.502													23	68					0	0	0	0	T	55579653	C	T	55579653	2	4	220	1	0	0	0	0	0	0	0	1	11241	668	24	4		4	OR5L1	11	55579653	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	15931	55579653	79426863	201	39416											
OR5AR1	219493	broad.mit.edu	37	chr11	56432020	56432020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatcatccccatgttaaatCccttgatctacagtttgcgg	9	15	6	11	1	2	1	1	1	1	0	4	1	4	1	3	1	2	2	3	1	4	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:56432020C>A	ENST00000302969.2	+	1	883	c.859C>A	c.(859-861)Ccc>Acc	p.P287T		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CATGTTAAATCCCTTGATCTA	0.408													10	38					2.17888e-05	5.04479e-05	1	0	A	56432020	C	A	56432020	3	1	220	1	0	0	0	0	1	0	0	0	11216	855	30	2	861	2	OR5AR1	11	56432020	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	852367	56432020	78574496	202	39417											
OR5B17	219965	broad.mit.edu	37	chr11	58126434	58126434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccccaggttcccagtcaGagtgatgaggtagatgaggg	10	8	14	9	0	1	5	1	3	0	2	3	5	3	5	3	3	0	2	3	3	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:58126434G>T	ENST00000357377.3	-	1	108	c.109C>A	c.(109-111)Ctg>Atg	p.L37M		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTCCCAGTCAGAGTGATGAGG	0.458													10	61					0.000442599	0.000953196	1	0	T	58126434	G	T	58126434	3	4	220	1	0	0	0	0	1	0	0	0	11220	933	33	2	837	2	OR5B17	11	58126434	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	1694414	58126434	76880082	203	39418											
OR4D10	390197	broad.mit.edu	37	chr11	59245729	59245729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatctctgtcaccttcaCtgtcatctcccctctgctca	5	13	5	18	0	7	0	4	0	3	0	9	0	7	0	4	1	1	1	4	1	0	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:59245729C>A	ENST00000530162.1	+	1	884	c.827C>A	c.(826-828)aCt>aAt	p.T276N		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCACCTTCACTGTCATCTCC	0.527													28	113					2.61193e-14	7.51418e-14	1	0	A	59245729	C	A	59245729	3	1	220	1	0	0	0	0	1	0	0	0	11125	565	20	4	829	4	OR4D10	11	59245729	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	1119295	59245729	75760787	204	39419											
FEN1	2237	broad.mit.edu	37	chr11	61563897	61563897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactctcttcagctaagcGcaaggagccagaacccaagg	12	6	9	14	1	3	1	2	0	1	1	4	2	3	2	2	2	4	2	2	2	4	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:61563897G>T	ENST00000305885.2	+	2	1477	c.1064G>T	c.(1063-1065)cGc>cTc	p.R355L	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	355					base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TCAGCTAAGCGCAAGGAGCCA	0.532								Editing and processing nucleases					5	20					0.000602214	0.00128617	1	0	T	61563897	G	T	61563897	3	4	220	1	0	0	0	0	1	0	0	0	5857	1087	38	3	1066	3	FEN1	11	61563897	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2318168	61563897	73442619	205	39420											
PACS1	55690	broad.mit.edu	37	chr11	65995047	65995047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacagcttgactgaaacaGacactctggtatgtatgggt	12	11	11	7	0	1	4	0	3	1	1	1	4	1	4	0	2	2	3	0	2	3	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:65995047G>T	ENST00000320580.4	+	11	1399	c.1366G>T	c.(1366-1368)Gac>Tac	p.D456Y		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	456					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GACTGAAACAGACACTCTGGT	0.373													5	23					1.23904e-05	2.89485e-05	1	0	T	65995047	G	T	65995047	3	4	220	1	0	0	0	0	1	0	0	0	11443	942	33	2	1408	2	PACS1	11	65995047	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	4431150	65995047	69011469	206	39421											
CABP4	57010	broad.mit.edu	37	chr11	67223649	67223649	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggggacatcctggactctCcccctgcaggaccgcgaact	7	7	11	16	2	1	0	0	0	1	0	3	4	2	3	4	4	2	1	4	4	1	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:67223649C>T	ENST00000438189.2	+	3	386	c.42C>T	c.(40-42)ctC>ctT	p.L14L	CABP4_ENST00000325656.5_Intron			P57796	CABP4_HUMAN	calcium binding protein 4	0					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCTGGACTCTCCCCCTGCAGG	0.672													16	55					0	0	0	0	T	67223649	C	T	67223649	2	4	220	1	0	0	0	0	0	0	0	1	2558	870	30	2		2	CABP4	11	67223649	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	1228602	67223649	67782867	207	39422											
NDUFS8	4728	broad.mit.edu	37	chr11	67803822	67803822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgcggcttctgccaggagGcctgtcccgtggatgccatc	5	9	13	14	2	1	0	0	0	1	0	3	2	2	2	4	4	3	1	4	4	0	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:67803822G>C	ENST00000313468.5	+	6	582	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	NDUFS8_ENST00000528492.1_Missense_Mutation_p.A13P	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	159	4Fe-4S ferredoxin-type 2.				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	CTGCCAGGAGGCCTGTCCCGT	0.652													7	35					0	0	0	0	C	67803822	G	C	67803822	3	2	220	1	0	0	0	0	1	0	0	0	10368	1203	42	4	493	4	NDUFS8	11	67803822	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	580173	67803822	67202694	208	39423											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238392	71238392	+	Missense_Mutation	SNP	G	G	A																															gctgtggctccggctgtgggGgctgtggctccggctgtggg																										TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:71238392G>A	ENST00000398536.4	+	1	80	c.46G>A	c.(46-48)Ggc>Agc	p.G16S		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	16						keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CGGCTGTGGGGGCTGTGGCTC	0.657													345	193					0	0	0	0	A	71238392	G	A	71238392	3	1	220	1	0	0	0	0	1	0	0	0	8619	1232	43	4	48	4	KRTAP5-7	11	71238392	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	3434570	71238392	63768124	209	39424	293	2									
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238393	71238393	+	Missense_Mutation	SNP	G	G	T																															ctgtggctccggctgtggggGctgtggctccggctgtgggg																										TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:71238393G>T	ENST00000398536.4	+	1	81	c.47G>T	c.(46-48)gGc>gTc	p.G16V		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	16						keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGCTGTGGGGGCTGTGGCTCC	0.662													347	196					1.31094e-123	4.14236e-123	1	0	T	71238393	G	T	71238393	3	4	220	1	0	0	0	0	1	0	0	0	8619	1203	42	4	49	4	KRTAP5-7	11	71238393	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	1	71238393	63768123	210	39425	293	2									
MMP8	4317	broad.mit.edu	37	chr11	102595499	102595499	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttacctgaacagtttttgTatttttctctttagaagata	11	20	5	5	0	1	3	0	1	1	2	2	3	1	3	1	0	2	2	1	0	6	10			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:102595499T>C	ENST00000236826.3	-	1	186	c.88A>G	c.(88-90)Aca>Gca	p.T30A		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	30					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ACAGTTTTTGTATTTTTCTCT	0.363													39	116					0	0	0	0	C	102595499	T	C	102595499	3	2	220	1	0	0	0	0	1	0	0	0	9738	1638	57	5	1355	5	MMP8	11	102595499	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	31357106	102595499	32411017	211	39426											
GRAMD1B	57476	broad.mit.edu	37	chr11	123480966	123480966	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccgaagtcctcacccaCgacgtgccctaccatgacta	10	7	8	16	3	1	1	1	1	0	0	2	4	2	1	5	0	3	0	5	0	3	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:123480966C>T	ENST00000529750.1	+	13	1737	c.1410C>T	c.(1408-1410)caC>caT	p.H470H	GRAMD1B_ENST00000450171.2_Silent_p.H161H|GRAMD1B_ENST00000456860.2_Silent_p.H477H|GRAMD1B_ENST00000322282.7_Silent_p.H470H	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	470						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCCTCACCCACGACGTGCCCT	0.542													17	46					0	0	0	0	T	123480966	C	T	123480966	2	4	220	1	0	0	0	0	0	0	0	1	6798	535	19	1		1	GRAMD1B	11	123480966	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	20885467	123480966	11525550	212	39427											
OR8B3	390271	broad.mit.edu	37	chr11	124266426	124266426	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacattagtgtagaaaacAgaagaaacttttccctgctc	15	10	6	10	0	0	3	0	0	0	3	2	3	1	3	2	0	3	2	2	0	6	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:124266426A>T	ENST00000354597.3	-	1	838	c.822T>A	c.(820-822)tcT>tcA	p.S274S		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGTAGAAAACAGAAGAAACTT	0.403													16	65					0	0	0	0	T	124266426	A	T	124266426	2	4	220	1	0	0	0	0	0	0	0	1	11299	175	7	5		5	OR8B3	11	124266426	Silent	SNP	A	TCGA-CR-7399-01A-11D-2012-08	785460	124266426	10740090	213	39428											
ADAMTS8	11095	broad.mit.edu	37	chr11	130286106	130286106	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacatggcgctgcagggggAccagggcagcgtctggttca	8	7	16	10	2	2	0	1	0	1	0	2	1	2	1	1	5	3	4	1	5	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:130286106A>G	ENST00000257359.6	-	4	1922	c.1216T>C	c.(1216-1218)Tcc>Ccc	p.S406P		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	406	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTGCAGGGGGACCAGGGCAGC	0.677													2	4					0	0	0	0	G	130286106	A	G	130286106	3	3	220	1	0	0	0	0	1	0	0	0	272	275	10	5	1477	5	ADAMTS8	11	130286106	Missense_Mutation	SNP	A	TCGA-CR-7399-01A-11D-2012-08	6019680	130286106	4720410	214	39429											
WNK1	65125	broad.mit.edu	37	chr12	977147	977147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacctcccacctgcccacCgaaagtagccatttcccagc	10	6	5	20	1	0	0	0	0	0	0	2	1	2	0	8	0	3	1	8	0	2	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:977147C>T	ENST00000537687.1	+	9	2898	c.2255C>T	c.(2254-2256)cCg>cTg	p.P752L	WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.P837L|WNK1_ENST00000574564.1_Missense_Mutation_p.P51L|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	755					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACCTGCCCACCGAAAGTAGCC	0.522													44	89					0	0	0	0	T	977147	C	T	977147	3	4	220	1	0	0	0	0	1	0	0	0	17473	652	23	1	2548	1	WNK1	12	977147	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08		977147	132874748	215	39430											
CACNA1C	775	broad.mit.edu	37	chr12	2690864	2690864	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatcatcttctccctcctGgggatgcagctctttggagg	6	13	10	12	0	5	0	2	0	3	0	7	2	6	2	2	4	2	2	2	4	0	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:2690864G>T	ENST00000399655.1	+	14	2269	c.2004G>T	c.(2002-2004)ctG>ctT	p.L668L	CACNA1C_ENST00000399601.1_Silent_p.L668L|CACNA1C_ENST00000399606.1_Silent_p.L668L|CACNA1C_ENST00000399649.1_Silent_p.L668L|CACNA1C_ENST00000399597.1_Silent_p.L668L|CACNA1C_ENST00000399644.1_Silent_p.L668L|CACNA1C_ENST00000399603.1_Silent_p.L668L|CACNA1C_ENST00000399595.1_Silent_p.L668L|CACNA1C_ENST00000335762.5_Silent_p.L693L|CACNA1C_ENST00000399617.1_Silent_p.L668L|CACNA1C_ENST00000399637.1_Silent_p.L668L|CACNA1C_ENST00000347598.4_Silent_p.L668L|CACNA1C_ENST00000480911.1_Silent_p.L668L|CACNA1C_ENST00000327702.7_Silent_p.L668L|CACNA1C_ENST00000399634.1_Silent_p.L668L|CACNA1C_ENST00000402845.3_Silent_p.L668L|CACNA1C_ENST00000344100.3_Silent_p.L668L|CACNA1C_ENST00000399629.1_Silent_p.L668L|CACNA1C_ENST00000399641.1_Silent_p.L668L|CACNA1C_ENST00000406454.3_Silent_p.L668L|CACNA1C_ENST00000399638.1_Silent_p.L668L|CACNA1C_ENST00000399591.1_Silent_p.L668L|CACNA1C_ENST00000399621.1_Silent_p.L668L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	668					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	tctccctcctGGGGATGCAGC	0.537													4	29					0.00024832	0.000545455	1	0	T	2690864	G	T	2690864	2	4	220	1	0	0	0	0	0	0	0	1	2565	1335	47	4		4	CACNA1C	12	2690864	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	1713717	2690864	131161031	216	39431											
FOXJ2	55810	broad.mit.edu	37	chr12	8196611	8196611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggaggcgttgcagggagtgGagaagcctcactgcctcctg	7	7	17	10	1	1	1	1	0	0	1	2	4	2	3	3	4	3	2	3	4	1	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:8196611G>T	ENST00000162391.3	+	5	1687	c.542G>T	c.(541-543)gGa>gTa	p.G181V	FOXJ2_ENST00000428177.2_Missense_Mutation_p.G181V	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	181					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GCAGGGAGTGGAGAAGCCTCA	0.542													20	89					7.21436e-19	2.1476e-18	1	0	T	8196611	G	T	8196611	3	4	220	1	0	0	0	0	1	0	0	0	6059	1174	41	2	556	2	FOXJ2	12	8196611	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	5505747	8196611	125655284	217	39432											
GRIN2B	2904	broad.mit.edu	37	chr12	13716163	13716163	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatctcaaacatgtgggCgtaggggctcccatccatga	10	9	11	11	1	1	2	1	2	1	0	4	2	3	2	2	3	1	2	2	3	2	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:13716163C>G	ENST00000279593.3	-	13	4218	c.4009G>C	c.(4009-4011)Gcc>Ccc	p.A1337P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1337					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACATGTGGGCGTAGGGGCTC	0.612													28	67					0	0	0	0	G	13716163	C	G	13716163	3	3	220	1	0	0	0	0	1	0	0	0	6830	768	27	3	449	3	GRIN2B	12	13716163	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	5519552	13716163	120135732	218	39433											
SLCO1B3	28234	broad.mit.edu	37	chr12	20968719	20968719	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagcagagtcagcatcttCagagaaaaagaaaacaagac	21	4	8	8	0	3	4	2	0	1	4	3	5	3	4	0	0	4	2	0	0	6	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:20968719C>G	ENST00000381545.3	+	3	266	c.47C>G	c.(46-48)tCa>tGa	p.S16*	SLCO1B7_ENST00000554957.1_Nonsense_Mutation_p.S16*|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.S16*|LST3_ENST00000540229.1_Nonsense_Mutation_p.S16*|SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.S16*|LST3_ENST00000381541.3_Nonsense_Mutation_p.S16*	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	16					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TCAGCATCTTCAGAGAAAAAG	0.299													8	39					0	0	0	0	G	20968719	C	G	20968719	4	3	220	1	0	0	0	0	0	1	0	0	14812	838	29	2	49	2	SLCO1B3	12	20968719	Nonsense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	7252556	20968719	112883176	219	39434											
SOX5	6660	broad.mit.edu	37	chr12	23689547	23689547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcttgctgagacgggCttgctcctcataatatggct	6	13	12	10	1	1	1	1	1	0	1	2	2	2	1	1	2	4	6	1	2	2	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:23689547C>G	ENST00000546136.1	-	13	1791	c.1789G>C	c.(1789-1791)Gcc>Ccc	p.A597P	SOX5_ENST00000451604.2_Missense_Mutation_p.A610P|SOX5_ENST00000309359.1_Missense_Mutation_p.A597P|SOX5_ENST00000381381.2_Missense_Mutation_p.A489P|SOX5_ENST00000396007.2_Missense_Mutation_p.A224P|SOX5_ENST00000541536.1_Missense_Mutation_p.A489P|SOX5_ENST00000545921.1_Missense_Mutation_p.A600P|SOX5_ENST00000537393.1_Missense_Mutation_p.A575P			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	610					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGAGACGGGCTTGCTCCTCA	0.493													31	89					0	0	0	0	G	23689547	C	G	23689547	3	3	220	1	0	0	0	0	1	0	0	0	15042	797	28	4	471	4	SOX5	12	23689547	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	2720828	23689547	110162348	220	39435											
IPO8	10526	broad.mit.edu	37	chr12	30792543	30792543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattcgttctaaagtatGtagcagcaaatcagggttgt	12	13	10	6	1	2	1	1	1	1	0	3	1	2	1	0	1	2	6	0	1	6	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:30792543G>A	ENST00000256079.4	-	21	2733	c.2395C>T	c.(2395-2397)Cat>Tat	p.H799Y	IPO8_ENST00000544829.1_Missense_Mutation_p.H594Y	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	799					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTAAAGTATGTAGCAGCAAA	0.403													25	49					0	0	0	0	A	30792543	G	A	30792543	3	1	220	1	0	0	0	0	1	0	0	0	7851	1377	48	4	738	4	IPO8	12	30792543	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	7102996	30792543	103059352	221	39436											
ACVRL1	94	broad.mit.edu	37	chr12	52309931	52309931	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacgagcagatccgcaCggactgctttgagtcctaca	9	8	12	12	3	0	2	0	1	0	1	2	5	2	4	2	2	3	4	2	2	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:52309931C>A	ENST00000550683.1	+	7	1303	c.1202C>A	c.(1201-1203)aCg>aAg	p.T401K	ACVRL1_ENST00000419526.2_Missense_Mutation_p.T213K|ACVRL1_ENST00000388922.4_Missense_Mutation_p.T387K	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	387	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAGATCCGCACGGACTGCTTT	0.612													11	54					0.000673444	0.00143037	1	0	A	52309931	C	A	52309931	3	1	220	1	0	0	0	0	1	0	0	0	225	536	19	3	1186	3	ACVRL1	12	52309931	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	21517388	52309931	81541964	222	39437											
MARS	4141	broad.mit.edu	37	chr12	57908991	57908991	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgccttgctctctgtcAtgcttcagccttacatgccc	5	14	7	15	0	3	0	2	0	1	0	4	0	3	0	3	0	7	3	3	0	2	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:57908991A>G	ENST00000262027.5	+	18	2397	c.2263A>G	c.(2263-2265)Atg>Gtg	p.M755V	MARS_ENST00000315473.5_Missense_Mutation_p.M521V	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	755					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GCTCTCTGTCATGCTTCAGCC	0.547													44	42					0	0	0	0	G	57908991	A	G	57908991	3	3	220	1	0	0	0	0	1	0	0	0	9385	217	8	5	2333	5	MARS	12	57908991	Missense_Mutation	SNP	A	TCGA-CR-7399-01A-11D-2012-08	5599060	57908991	75942904	223	39438											
NAV3	89795	broad.mit.edu	37	chr12	78562638	78562638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaatggtccagaccatcCtcccaaaggtatatttagaa	14	10	7	10	0	0	3	0	1	0	2	3	3	3	3	4	2	0	1	4	2	6	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:78562638C>A	ENST00000397909.2	+	24	5146	c.4973C>A	c.(4972-4974)cCt>cAt	p.P1658H	NAV3_ENST00000228327.6_Missense_Mutation_p.P1658H|NAV3_ENST00000536525.2_Missense_Mutation_p.P1658H|NAV3_ENST00000266692.7_Missense_Mutation_p.P1481H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1658						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCAGACCATCCTCCCAAAGGT	0.378										HNSCC(70;0.22)			19	75					1.15919e-05	2.71651e-05	1	0	A	78562638	C	A	78562638	3	1	220	1	0	0	0	0	1	0	0	0	10255	681	24	4	5067	4	NAV3	12	78562638	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	20653647	78562638	55289257	224	39439											
UTP20	27340	broad.mit.edu	37	chr12	101679354	101679354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaatcttgacaggaggttGaaacctacttttttgagggt	10	16	10	5	0	1	3	0	3	1	0	1	4	1	4	1	3	2	1	1	3	3	8			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:101679354G>A	ENST00000261637.4	+	3	307	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	45					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACAGGAGGTTGAAACCTACTT	0.308													20	50					0	0	0	0	A	101679354	G	A	101679354	3	1	220	1	0	0	0	0	1	0	0	0	17195	1291	45	2	143	2	UTP20	12	101679354	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	23116716	101679354	32172541	225	39440											
MYBPC1	4604	broad.mit.edu	37	chr12	102040650	102040650	+	Frame_Shift_Del	DEL	G	G	-																															gtgatgagaaatgttccactGagctcttcgtaagaggtaaa																										TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:102040650delG	ENST00000549145.1	+	12	1139	c.1039delG	c.(1039-1041)agfs	p.E347fs	MYBPC1_ENST00000553190.1_Frame_Shift_Del_p.E334fs|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000551300.1_Frame_Shift_Del_p.E235fs|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Frame_Shift_Del_p.E334fs|MYBPC1_ENST00000547509.1_Frame_Shift_Del_p.E320fs|MYBPC1_ENST00000547405.1_Frame_Shift_Del_p.E308fs|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000545503.2_Frame_Shift_Del_p.E334fs|MYBPC1_ENST00000541119.1_Frame_Shift_Del_p.E322fs|MYBPC1_ENST00000536007.1_Frame_Shift_Del_p.E315fs|MYBPC1_ENST00000452455.2_Frame_Shift_Del_p.E334fs|MYBPC1_ENST00000392934.3_Frame_Shift_Del_p.E321fs|MYBPC1_ENST00000361685.2_Frame_Shift_Del_p.E359fs|MYBPC1_ENST00000361466.2_Frame_Shift_Del_p.E359fs|MYBPC1_ENST00000360610.2_Frame_Shift_Del_p.E334fs|MYBPC1_ENST00000441232.1_Frame_Shift_Del_p.E334fs			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	334	Ig-like C2-type 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						ATGTTCCACTGAGCTCTTCGT	0.413													35	52	---	---	---	---					-	102040650	G	-	102040650	7	5	220	1	0	1	0	1	0	0	0	0	10081	1291	45	0	1125	0	MYBPC1	12	102040650	Frame_Shift_Del	DEL	G	TCGA-CR-7399-01A-11D-2012-08	361296	102040650	31811245	226	39441											
RILPL1	353116	broad.mit.edu	37	chr12	124008061	124008065	+	Frame_Shift_Del	DEL	CTCCT	CTCCT	-																															ccttcatgcttctggaactcCtcctctgagaaattgacatc																										TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:124008061_124008065delCTCCT	ENST00000376874.4	-	2	672_676	c.437_441delAGGAG	c.(436-441)gfs	p.EE146fs		NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	146					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		TCTGGAACTCCTCCTCTGAGAAATT	0.585													10	98	---	---	---	---					-	124008065	CTCCT	-	124008061	7	5	220	1	0	1	0	1	0	0	0	0	13444	680	24	0	794	0	RILPL1	12	124008061	Frame_Shift_Del	DEL	CTCCT	TCGA-CR-7399-01A-11D-2012-08	21967411	124008061	9843834	227	39442											
NCOR2	9612	broad.mit.edu	37	chr12	124862827	124862827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcatttccgctcacgcccGacgcctccatctcctcatcc	5	10	4	22	4	4	0	3	0	1	0	8	1	7	0	7	0	0	1	7	0	0	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:124862827G>A	ENST00000356219.3	-	19	2278	c.2123C>T	c.(2122-2124)tCg>tTg	p.S708L	NCOR2_ENST00000405201.1_Missense_Mutation_p.S708L|NCOR2_ENST00000404621.1_Missense_Mutation_p.S707L|NCOR2_ENST00000404121.2_Missense_Mutation_p.S278L|NCOR2_ENST00000397355.1_Missense_Mutation_p.S708L|NCOR2_ENST00000429285.2_Missense_Mutation_p.S707L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	708					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTCACGCCCGACGCCTCCAT	0.667													24	50					0	0	0	0	A	124862827	G	A	124862827	3	1	220	1	0	0	0	0	1	0	0	0	10306	1059	37	1	5565	1	NCOR2	12	124862827	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	854766	124862827	8989068	228	39443											
RIMBP2	23504	broad.mit.edu	37	chr12	130926854	130926854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccaccaggacgttgtagCtgctcaccgttccccatcct	6	11	8	16	2	1	0	1	0	0	0	4	1	4	1	6	1	2	5	6	1	1	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:130926854C>A	ENST00000261655.4	-	8	1155	c.992G>T	c.(991-993)aGc>aTc	p.S331I	RIMBP2_ENST00000536002.1_Missense_Mutation_p.S239I|RIMBP2_ENST00000535703.1_Missense_Mutation_p.S239I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	331	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GACGTTGTAGCTGCTCACCGT	0.562													19	99					1.96292e-10	5.34775e-10	1	0	A	130926854	C	A	130926854	3	1	220	1	0	0	0	0	1	0	0	0	13446	797	28	4	2214	4	RIMBP2	12	130926854	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	6064027	130926854	2925041	229	39444											
MRP63	78988	broad.mit.edu	37	chr13	21751049	21751049	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccgtccctctcttccgcAggcaccatgttcctgactgc	5	10	8	18	2	1	1	0	1	1	0	5	1	4	1	5	1	2	3	5	1	0	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:21751049A>C	ENST00000309594.4	+	2	73		c.e2-1			NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN	mitochondrial ribosomal protein 63											kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		TCTCTTCCGCAGGCACCATGT	0.716													3	46					0	0	0	0	C	21751049	A	C	21751049	5	2	220	1	0	0	0	0	0	0	1	0	9843	202	7	5		5	MRP63	13	21751049	Splice_Site	SNP	A	TCGA-CR-7399-01A-11D-2012-08		21751049	93418829	230	39445											
PARP4	143	broad.mit.edu	37	chr13	25033197	25033197	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaccttttgtttcagttcAtgtgtatcactgaaaatgaa	12	16	6	7	0	3	2	3	2	0	0	3	2	3	2	1	0	1	3	1	0	5	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:25033197A>T	ENST00000381989.3	-	20	2514	c.2409T>A	c.(2407-2409)caT>caA	p.H803Q	PARP4_ENST00000480576.1_5'UTR	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	803					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTTTCAGTTCATGTGTATCAC	0.333													7	25					0	0	0	0	T	25033197	A	T	25033197	3	4	220	1	0	0	0	0	1	0	0	0	11534	214	8	5	2825	5	PARP4	13	25033197	Missense_Mutation	SNP	A	TCGA-CR-7399-01A-11D-2012-08	3282148	25033197	90136681	231	39446											
RXFP2	122042	broad.mit.edu	37	chr13	32313845	32313845	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttctgatcaatgtcaaaggTaaggttgctactttctcgtt	9	16	9	7	1	4	1	2	1	2	0	5	1	4	1	0	2	2	5	0	2	4	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:32313845T>C	ENST00000298386.2	+	1	165		c.e1+2		RXFP2_ENST00000380314.1_Splice_Site	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2							integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATGTCAAAGGTAAGGTTGCTA	0.313													37	36					0	0	0	0	C	32313845	T	C	32313845	5	2	220	1	0	0	0	0	0	0	1	0	13845	1652	57	5	98	5	RXFP2	13	32313845	Splice_Site	SNP	T	TCGA-CR-7399-01A-11D-2012-08	7280648	32313845	82856033	232	39447											
SOHLH2	54937	broad.mit.edu	37	chr13	36748876	36748876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tacctgggccataacggctgGagagattttctcccggatat	9	11	11	10	2	1	1	0	0	1	1	2	4	1	3	3	4	2	1	3	4	3	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:36748876G>C	ENST00000379881.3	-	7	860	c.772C>G	c.(772-774)Cca>Gca	p.P258A	SOHLH2_ENST00000554962.1_Missense_Mutation_p.P335A|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.P335A	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		ATAACGGCTGGAGAGATTTTC	0.368													19	40					0	0	0	0	C	36748876	G	C	36748876	3	2	220	1	0	0	0	0	1	0	0	0	15012	1174	41	2	525	2	SOHLH2	13	36748876	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	4435031	36748876	78421002	233	39448											
PCDH17	27253	broad.mit.edu	37	chr13	58206853	58206853	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcgcggcggcggagggcGcagcaagtcgggtagctacc	8	3	19	11	6	0	1	0	0	0	1	1	2	0	2	1	5	4	4	1	5	3	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:58206853G>C	ENST00000377918.3	+	1	199	c.173G>C	c.(172-174)cGc>cCc	p.R58P		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	58	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGCGGAGGGCGCAGCAAGTCG	0.692													4	12					0	0	0	0	C	58206853	G	C	58206853	3	2	220	1	0	0	0	0	1	0	0	0	11583	1087	38	3	175	3	PCDH17	13	58206853	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	21457977	58206853	56963025	234	39449											
KLHL1	57626	broad.mit.edu	37	chr13	70681720	70681720	+	Frame_Shift_Del	DEL	G	G	-																															gccactgccgtcctgttgcaGgcagcctccccccgccgggc																										TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:70681720delG	ENST00000377844.4	-	1	871	c.112delC	c.(112-114)tgfs	p.L38fs	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	38					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCCTGTTGCAGGCAGCCTCCC	0.607													7	24	---	---	---	---					-	70681720	G	-	70681720	7	5	220	1	0	1	0	1	0	0	0	0	8417	991	35	0	2178	0	KLHL1	13	70681720	Frame_Shift_Del	DEL	G	TCGA-CR-7399-01A-11D-2012-08	12474867	70681720	44488158	235	39450											
SLITRK6	84189	broad.mit.edu	37	chr13	86369426	86369426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatctcgttaggttcataaaCgatccttcttcaagaacttc	12	14	5	10	2	4	1	2	0	2	1	7	2	5	1	1	1	2	2	1	1	6	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:86369426C>T	ENST00000400286.2	-	2	1816	c.1218G>A	c.(1216-1218)tcG>tcA	p.S406S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	406						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGTTCATAAACGATCCTTCTT	0.338													9	18					0	0	0	0	T	86369426	C	T	86369426	2	4	220	1	0	0	0	0	0	0	0	1	14835	523	19	1		1	SLITRK6	13	86369426	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	15687706	86369426	28800452	236	39451											
ITGBL1	9358	broad.mit.edu	37	chr13	102359121	102359121	+	Frame_Shift_Del	DEL	C	C	-																															cacaggccacggcacatgttCctgtggtcgctgtgtttgtg																										TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:102359121delC	ENST00000376180.3	+	9	1367	c.1148delC	c.(1147-1149)tcfs	p.S383fs	ITGBL1_ENST00000376162.3_Frame_Shift_Del_p.S290fs|ITGBL1_ENST00000545560.2_Frame_Shift_Del_p.S242fs	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	383	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACATGTTCCTGTGGTCGC	0.468													22	45	---	---	---	---					-	102359121	C	-	102359121	7	5	220	1	0	1	0	1	0	0	0	0	7955	855	30	0	1182	0	ITGBL1	13	102359121	Frame_Shift_Del	DEL	C	TCGA-CR-7399-01A-11D-2012-08	15989695	102359121	12810757	237	39452											
F10	2159	broad.mit.edu	37	chr13	113803734	113803734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatctacaccaaggtcaccgCcttcctcaagtggatcgaca	11	8	8	14	2	3	0	2	0	1	0	5	3	4	1	4	2	1	0	4	2	3	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:113803734C>A	ENST00000375559.3	+	8	1408	c.1370C>A	c.(1369-1371)gCc>gAc	p.A457D	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	457	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGGTCACCGCCTTCCTCAAG	0.572													19	61					5.35267e-07	1.32273e-06	1	0	A	113803734	C	A	113803734	3	1	220	1	0	0	0	0	1	0	0	0	5374	739	26	4	1400	4	F10	13	113803734	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	11444613	113803734	1366144	238	39453											
FOXG1	2290	broad.mit.edu	37	chr14	29237169	29237169	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagggctggcagaactcCatccgccacaatctgtccct	10	7	9	15	1	1	1	0	0	1	1	4	1	4	1	4	2	2	3	4	2	3	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:29237169C>A	ENST00000382535.3	+	2	1053	c.684C>A	c.(682-684)tcC>tcA	p.S228S	FOXG1_ENST00000313071.4_Silent_p.S228S			P55316	FOXG1_HUMAN	forkhead box G1	228					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGCAGAACTCCATCCGCCACA	0.597													15	9					2.32078e-09	6.10691e-09	1	0	A	29237169	C	A	29237169	2	1	220	1	0	0	0	0	0	0	0	1	6054	581	21	4		4	FOXG1	14	29237169	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08		29237169	78112371	239	39454											
CTAGE5	4253	broad.mit.edu	37	chr14	39790183	39790183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccttcatctgaaacaaGagcttttctctctcctccaa	9	14	5	13	0	4	2	1	1	3	1	7	2	5	2	3	1	2	1	3	1	3	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:39790183G>T	ENST00000553728.1	+	23	3413	c.3200G>T	c.(3199-3201)aGa>aTa	p.R1067I	CTAGE5_ENST00000557038.1_Missense_Mutation_p.R452I|CTAGE5_ENST00000553352.1_Missense_Mutation_p.R503I|CTAGE5_ENST00000280083.3_Missense_Mutation_p.R532I|CTAGE5_ENST00000341502.5_Missense_Mutation_p.R532I|CTAGE5_ENST00000396165.4_Missense_Mutation_p.R503I|CTAGE5_ENST00000556148.1_Missense_Mutation_p.R457I|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.R503I|CTAGE5_ENST00000396158.2_Missense_Mutation_p.R537I|CTAGE5_ENST00000341749.3_Missense_Mutation_p.R520I|CTAGE5_ENST00000348007.3_Intron																							TCTGAAACAAGAGCTTTTCTC	0.418													21	76					1.40151e-16	4.09305e-16	1	0	T	39790183	G	T	39790183	3	4	220	1	0	0	0	0	1	0	0	0	4026	942	33	2	1700	2	CTAGE5	14	39790183	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	10553014	39790183	67559357	240	39455											
TIMM9	26520	broad.mit.edu	37	chr14	58875876	58875876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttctgtaagcaatgttctGaacaggtggtctaggaatga	12	13	11	5	0	3	2	0	2	3	0	3	3	3	3	0	3	2	3	0	3	5	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:58875876G>A	ENST00000395159.2	-	6	671	c.146C>T	c.(145-147)tCa>tTa	p.S49L	TIMM9_ENST00000555061.1_Missense_Mutation_p.S49L|TIMM9_ENST00000555593.1_Missense_Mutation_p.S49L|TIMM9_ENST00000555404.1_Missense_Mutation_p.S49L|TIMM9_ENST00000216463.4_5'UTR|RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000556007.2_Intron	NM_012460.2	NP_036592.1	Q9Y5J7	TIM9_HUMAN	translocase of inner mitochondrial membrane 9 homolog (yeast)	49					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding			kidney(2)|skin(1)	3						GCAATGTTCTGAACAGGTGGT	0.348													23	15					0	0	0	0	A	58875876	G	A	58875876	3	1	220	1	0	0	0	0	1	0	0	0	16010	1294	45	2	127	2	TIMM9	14	58875876	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	19085693	58875876	48473664	241	39456											
CKB	1152	broad.mit.edu	37	chr14	103986585	103986585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggttggatgggcaggtgaGgatgtagcccaggtgagggt	8	8	20	5	0	0	2	0	2	0	0	0	4	0	4	1	7	1	3	1	7	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:103986585G>C	ENST00000348956.2	-	7	1198	c.841C>G	c.(841-843)Ctc>Gtc	p.L281V		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	281	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GGGCAGGTGAGGATGTAGCCC	0.557													10	30					0	0	0	0	C	103986585	G	C	103986585	3	2	220	1	0	0	0	0	1	0	0	0	3476	1000	35	4	312	4	CKB	14	103986585	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	45110709	103986585	3362955	242	39457											
AHNAK2	113146	broad.mit.edu	37	chr14	105408248	105408248	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtcggcggaaggggcctGaatgcggaggtcagtggtct	7	7	19	8	3	2	1	1	1	1	0	3	3	2	3	1	8	1	0	1	8	2	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:105408248G>C	ENST00000333244.5	-	7	13659	c.13540C>G	c.(13540-13542)Cag>Gag	p.Q4514E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4514						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAAGGGGCCTGAATGCGGAGG	0.627													25	63					0	0	0	0	C	105408248	G	C	105408248	3	2	220	1	0	0	0	0	1	0	0	0	415	1299	45	2	3851	2	AHNAK2	14	105408248	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	1421663	105408248	1941292	243	39458											
MKRN3	7681	broad.mit.edu	37	chr15	23811612	23811612	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggctcctctacagagctCagagactgagaggaagcaga	13	5	13	10	1	2	4	1	1	1	4	3	8	3	5	1	2	3	3	1	2	2	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr15:23811612C>A	ENST00000314520.3	+	1	1159	c.683C>A	c.(682-684)tCa>tAa	p.S228*	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	228						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTACAGAGCTCAGAGACTGAG	0.582													14	33					1.52009e-12	4.30879e-12	1	0	A	23811612	C	A	23811612	4	1	220	1	0	0	0	0	0	1	0	0	9677	838	29	2	685	2	MKRN3	15	23811612	Nonsense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08		23811612	78719780	244	39459											
ITGAL	3683	broad.mit.edu	37	chr16	30518144	30518144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggacctgcacttccccccGggactctccttccgcaaggt	5	9	9	18	2	1	0	0	0	1	0	4	2	3	2	6	3	1	2	6	3	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:30518144G>A	ENST00000356798.6	+	21	2655	c.2475G>A	c.(2473-2475)ccG>ccA	p.P825P	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.P741P	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	825					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ACTTCCCCCCGGGACTCTCCT	0.602													32	147					0	0	0	0	A	30518144	G	A	30518144	2	1	220	1	0	0	0	0	0	0	0	1	7939	1103	39	1		1	ITGAL	16	30518144	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08		30518144	59836609	245	39460											
SRCAP	10847	broad.mit.edu	37	chr16	30748614	30748614	+	Frame_Shift_Del	DEL	A	A	-																															cactcctgtcatatccgcccAtcaaactcgcagcaccacca																										TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:30748614delA	ENST00000262518.4	+	34	7638	c.7253delA	c.(7252-7254)ctfs	p.H2418fs	SRCAP_ENST00000344771.4_Frame_Shift_Del_p.H2260fs|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.H2356fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2418					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ATATCCGCCCATCAAACTCGC	0.647													10	34	---	---	---	---					-	30748614	A	-	30748614	7	5	220	1	0	1	0	1	0	0	0	0	15225	217	8	0	7379	0	SRCAP	16	30748614	Frame_Shift_Del	DEL	A	TCGA-CR-7399-01A-11D-2012-08	230470	30748614	59606139	246	39461											
MYLK3	91807	broad.mit.edu	37	chr16	46771727	46771727	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcagcctcgtgccttcCtctaagggctcagggtcagg	6	9	14	12	1	4	0	3	0	1	0	6	1	5	1	3	4	2	1	3	4	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:46771727C>T	ENST00000394809.4	-	3	1012	c.897G>A	c.(895-897)gaG>gaA	p.E299E	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	299					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCGTGCCTTCCTCTAAGGGCT	0.667													21	116					0	0	0	0	T	46771727	C	T	46771727	2	4	220	1	0	0	0	0	0	0	0	1	10128	680	24	4		4	MYLK3	16	46771727	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	16023113	46771727	43583026	247	39462											
GPT2	84706	broad.mit.edu	37	chr16	46956246	46956246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgtcggtgcgcctgtgccCcccagtgtctgggcaggccg	2	8	16	15	3	1	0	0	0	1	0	2	0	1	0	5	3	2	2	5	3	0	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:46956246C>A	ENST00000440783.2	+	9	1495	c.830C>A	c.(829-831)cCc>cAc	p.P277H	GPT2_ENST00000340124.4_Missense_Mutation_p.P377H	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	377					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CGCCTGTGCCCCCCAGTGTCT	0.612													18	50					2.39187e-15	6.90687e-15	1	0	A	46956246	C	A	46956246	3	1	220	1	0	0	0	0	1	0	0	0	6788	623	22	4	1160	4	GPT2	16	46956246	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	184519	46956246	43398507	248	39463											
NLRC5	84166	broad.mit.edu	37	chr16	57060492	57060492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgttaccctccattcccGctgggtacagcggaccaaag	9	9	10	13	2	0	0	0	0	0	0	2	1	2	1	4	2	3	4	4	2	4	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:57060492G>T	ENST00000436936.1	+	6	1862	c.1637G>T	c.(1636-1638)cGc>cTc	p.R546L	NLRC5_ENST00000539144.1_Missense_Mutation_p.R546L|NLRC5_ENST00000308149.7_Missense_Mutation_p.R546L|NLRC5_ENST00000262510.6_Missense_Mutation_p.R546L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	546					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCCATTCCCGCTGGGTACAG	0.612													35	64					3.6622e-26	1.12492e-25	1	0	T	57060492	G	T	57060492	3	4	220	1	0	0	0	0	1	0	0	0	10540	1087	38	3	1651	3	NLRC5	16	57060492	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	10104246	57060492	33294261	249	39464											
LRRC36	55282	broad.mit.edu	37	chr16	67404886	67404886	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcaacagtgaccctgctgTacttgtcaatgtagagcaac	11	12	8	10	0	2	2	2	1	0	1	2	2	2	2	1	0	5	4	1	0	5	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:67404886T>C	ENST00000329956.6	+	9	1254	c.1235T>C	c.(1234-1236)gTa>gCa	p.V412A	LRRC36_ENST00000290940.7_Missense_Mutation_p.V144A|LRRC36_ENST00000563189.1_Missense_Mutation_p.V291A|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.V291A	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	412										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GACCCTGCTGTACTTGTCAAT	0.473													36	99					0	0	0	0	C	67404886	T	C	67404886	3	2	220	1	0	0	0	0	1	0	0	0	9054	1638	57	5	1297	5	LRRC36	16	67404886	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	10344394	67404886	22949867	250	39465											
THAP11	57215	broad.mit.edu	37	chr16	67876755	67876755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccgctggggccgcggccGcccgccgcaggcagcagcag	5	1	17	18	6	0	0	0	0	0	0	0	1	0	0	5	4	2	5	5	4	0	0	rs142722815	by1000genomes	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:67876755G>T	ENST00000303596.1	+	1	543	c.298G>T	c.(298-300)Gcc>Tcc	p.A100S	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	100	Poly-Ala.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		ggccgcggccgcccgccgcAG	0.687													6	26					1.26484e-09	3.35119e-09	1	0	T	67876755	G	T	67876755	3	4	220	1	0	0	0	0	1	0	0	0	15937	1087	38	3	300	3	THAP11	16	67876755	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	471869	67876755	22477998	251	39466											
ATP2C2	9914	broad.mit.edu	37	chr16	84495694	84495694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtcatttacatcccccCgctgcagagggtcttccaga	7	9	11	14	2	2	2	1	0	1	2	4	2	4	2	4	3	2	2	4	3	1	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:84495694C>A	ENST00000416219.2	+	27	2857	c.2768C>A	c.(2767-2769)cCg>cAg	p.P923Q	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.P894Q|RP11-517C16.2_ENST00000565700.1_RNA			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	894					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TACATCCCCCCGCTGCAGAGG	0.617													19	106					5.35267e-07	1.32273e-06	1	0	A	84495694	C	A	84495694	3	1	220	1	0	0	0	0	1	0	0	0	1148	652	23	3	2783	3	ATP2C2	16	84495694	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	16618939	84495694	5859059	252	39467											
TP53	7157	broad.mit.edu	37	chr17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtgcgccggtctctcccagGacaggcacaaacacgcacct	9	6	10	16	3	1	0	0	0	1	0	3	1	2	1	3	3	2	2	3	3	1	0	rs17849781		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:7577106G>A	ENST00000420246.2	-	8	964	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCTCCCAGGACAGGCACAA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	28					0	0	0	0	A	7577106	G	A	7577106	3	1	220	1	0	0	0	0	1	0	0	0	16476	1174	41	2	454	2	TP53	17	7577106	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08		7577106	73618104	253	39468											
TP53	7157	broad.mit.edu	37	chr17	7578211	7578211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaccaccacactatgtCgaaaagtgtttctgtcatcc	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:7578211C>A	ENST00000420246.2	-	6	770	c.638G>T	c.(637-639)cGa>cTa	p.R213L	TP53_ENST00000359597.4_Missense_Mutation_p.R213L|TP53_ENST00000413465.2_Missense_Mutation_p.R213L|TP53_ENST00000269305.4_Missense_Mutation_p.R213L|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R213L|TP53_ENST00000455263.2_Missense_Mutation_p.R213L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACACTATGTCGAAAAGTGTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	18					9.31168e-06	2.19551e-05	1	0	A	7578211	C	A	7578211	3	1	220	1	0	0	0	0	1	0	0	0	16476	884	31	3	656	3	TP53	17	7578211	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	1105	7578211	73616999	254	39469											
CNTROB	116840	broad.mit.edu	37	chr17	7851510	7851510	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcttgggaggaagcccctCaagtgccacgtattccaccg	9	8	10	14	2	2	0	1	0	1	0	3	2	3	2	5	2	2	1	5	2	3	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:7851510C>T	ENST00000380262.3	+	16	3170	c.2245C>T	c.(2245-2247)Caa>Taa	p.Q749*	CNTROB_ENST00000563694.1_Nonsense_Mutation_p.Q749*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.Q749*|CNTROB_ENST00000380255.3_3'UTR	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	749	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGAAGCCCCTCAAGTGCCACG	0.537													17	108					0	0	0	0	T	7851510	C	T	7851510	4	4	220	1	0	0	0	0	0	1	0	0	3681	827	29	2	2307	2	CNTROB	17	7851510	Nonsense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	273299	7851510	73343700	255	39470											
MYH8	4626	broad.mit.edu	37	chr17	10318851	10318851	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaattgttgcaaagtattGgatgacacgcttggtgttca	10	14	11	6	1	1	1	1	1	0	0	1	2	1	2	0	2	2	6	0	2	3	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:10318851G>A	ENST00000403437.2	-	7	680	c.586C>T	c.(586-588)Caa>Taa	p.Q196*	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	196	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCAAAGTATTGGATGACACGC	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				39	55					0	0	0	0	A	10318851	G	A	10318851	4	1	220	1	0	0	0	0	0	1	0	0	10111	1357	47	4	5363	4	MYH8	17	10318851	Nonsense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2467341	10318851	70876359	256	39471											
PIGL	9487	broad.mit.edu	37	chr17	16203244	16203244	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagtgggacacagagcaCgtggccagagtcctccttca	10	7	12	12	1	1	2	1	0	0	2	3	3	3	3	3	2	2	2	3	2	0	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:16203244C>T	ENST00000225609.5	+	3	395	c.378C>T	c.(376-378)caC>caT	p.H126H	PIGL_ENST00000498772.2_Silent_p.H126H|PIGL_ENST00000395844.3_Silent_p.H126H|PIGL_ENST00000581006.1_Silent_p.H126H	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	126					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		ACACAGAGCACGTGGCCAGAG	0.507													20	106					0	0	0	0	T	16203244	C	T	16203244	2	4	220	1	0	0	0	0	0	0	0	1	11963	535	19	1		1	PIGL	17	16203244	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	5884393	16203244	64991966	257	39472											
FLII	2314	broad.mit.edu	37	chr17	18155815	18155815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtcaggaaatggatggcttCtgggagggtcaccaggtggt	8	9	17	7	1	3	0	2	0	1	0	3	3	3	3	1	7	0	1	1	7	1	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:18155815C>T	ENST00000327031.4	-	10	1294	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	FLII_ENST00000579294.1_Missense_Mutation_p.E346K|FLII_ENST00000578558.1_Missense_Mutation_p.E357K|FLII_ENST00000379450.4_Missense_Mutation_p.E272K|FLII_ENST00000545457.2_Missense_Mutation_p.E303K	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	357	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TGGATGGCTTCTGGGAGGGTC	0.587													10	72					0	0	0	0	T	18155815	C	T	18155815	3	4	220	1	0	0	0	0	1	0	0	0	5970	922	32	2	2824	2	FLII	17	18155815	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	1952571	18155815	63039395	258	39473											
ZNF286B	729288	broad.mit.edu	37	chr17	18584121	18584121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctcttctcttggaaatggGgagaatcctgggaagacaga	11	10	13	7	0	2	3	0	0	2	3	4	6	3	5	1	4	1	1	1	4	3	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:18584121G>A	ENST00000545289.1	-	3	309	c.59C>T	c.(58-60)cCc>cTc	p.P20L		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						TTGGAAATGGGGAGAATCCTG	0.473													19	148					0	0	0	0	A	18584121	G	A	18584121	3	1	220	1	0	0	0	0	1	0	0	0	17919	1232	43	4	1521	4	ZNF286B	17	18584121	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	428306	18584121	62611089	259	39474											
KCNJ12	3768	broad.mit.edu	37	chr17	21319578	21319578	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtggaggccacagccatGaccacccaggcccgcagctc	9	4	12	16	1	0	1	0	1	0	0	1	2	0	2	5	4	2	2	5	4	0	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:21319578G>C	ENST00000583088.1	+	3	1819	c.924G>C	c.(922-924)atG>atC	p.M308I	KCNJ12_ENST00000331718.5_Missense_Mutation_p.M308I	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCACAGCCATGACCACCCAGG	0.607										Prostate(3;0.18)			5	101					0	0	0	0	C	21319578	G	C	21319578	3	2	220	1	0	0	0	0	1	0	0	0	8099	1290	45	2	926	2	KCNJ12	17	21319578	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2735457	21319578	59875632	260	39475											
KIAA0100	9703	broad.mit.edu	37	chr17	26942796	26942796	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggttaaggtcaccccaGtccacactgttcttctcacc	9	10	6	16	0	3	0	2	0	2	0	5	0	4	0	5	2	0	2	5	2	1	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:26942796G>A	ENST00000528896.2	-	38	6485	c.6411C>T	c.(6409-6411)gaC>gaT	p.D2137D	SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.D1994D|KIAA0100_ENST00000389003.3_Silent_p.D1994D	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2137						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GGTCACCCCAGTCCACACTGT	0.537													19	37					0	0	0	0	A	26942796	G	A	26942796	2	1	220	1	0	0	0	0	0	0	0	1	8205	1020	36	4		4	KIAA0100	17	26942796	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	5623218	26942796	54252414	261	39476											
RHBDL3	162494	broad.mit.edu	37	chr17	30615953	30615953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctatgagaccctgccccGggaaattgaccgcaagtggt	9	7	13	12	2	0	2	0	2	0	1	0	4	0	3	5	3	1	1	5	3	3	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:30615953G>A	ENST00000269051.4	+	4	451	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	RHBDL3_ENST00000536287.1_Missense_Mutation_p.R48Q|RHBDL3_ENST00000538145.1_Missense_Mutation_p.R138Q	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	146					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				ACCCTGCCCCGGGAAATTGAC	0.617													13	68					0	0	0	0	A	30615953	G	A	30615953	3	1	220	1	0	0	0	0	1	0	0	0	13406	1116	39	1	451	1	RHBDL3	17	30615953	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	3673157	30615953	50579257	262	39477											
CDC6	990	broad.mit.edu	37	chr17	38447873	38447873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacctttctggtgctcctGgaactggaaaaactgcctgc	8	13	9	11	0	1	0	0	0	1	0	2	2	2	2	3	3	6	1	3	3	4	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:38447873G>A	ENST00000209728.4	+	4	1084	c.613G>A	c.(613-615)Gga>Aga	p.G205R		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	205					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TGGTGCTCCTGGAACTGGAAA	0.458													23	122					0	0	0	0	A	38447873	G	A	38447873	3	1	220	1	0	0	0	0	1	0	0	0	3112	1349	47	4	623	4	CDC6	17	38447873	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	7831920	38447873	42747337	263	39478											
HOXB6	3216	broad.mit.edu	37	chr17	46673848	46673848	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttgctctcctttttcCacttcatgcgtcggttctgg	3	17	9	12	2	3	0	1	0	2	0	6	0	4	0	2	2	2	4	2	2	0	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:46673848C>T	ENST00000484302.2	-	3	1224	c.602G>A	c.(601-603)tGg>tAg	p.W201*	HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB6_ENST00000225648.3_Nonsense_Mutation_p.W201*|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000487849.3_RNA			P17509	HXB6_HUMAN	homeobox B6	201					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						CTCCTTTTTCCACTTCATGCG	0.597													45	236					0	0	0	0	T	46673848	C	T	46673848	4	4	220	1	0	0	0	0	0	1	0	0	7355	595	21	4	76	4	HOXB6	17	46673848	Nonsense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	8225975	46673848	34521362	264	39479											
MPO	4353	broad.mit.edu	37	chr17	56348175	56348175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaatgagatctgggccaGggcctgtcgctgctgcatgc	6	8	16	11	1	1	1	0	1	1	1	2	2	1	1	2	3	3	4	2	3	1	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:56348175G>C	ENST00000340482.3	-	11	2352	c.2176C>G	c.(2176-2178)Ctg>Gtg	p.L726V	MPO_ENST00000225275.3_Missense_Mutation_p.L694V			P05164	PERM_HUMAN	myeloperoxidase	694					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	ATCTGGGCCAGGGCCTGTCGC	0.557													4	80					0	0	0	0	C	56348175	G	C	56348175	3	2	220	1	0	0	0	0	1	0	0	0	9802	991	35	4	161	4	MPO	17	56348175	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	9674327	56348175	24847035	265	39480											
TEX14	56155	broad.mit.edu	37	chr17	56676479	56676479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcagcctatcatcattctCgtgcattattgtctgcataa	9	15	5	12	1	5	0	3	0	2	0	6	0	5	0	2	0	3	2	2	0	3	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:56676479C>T	ENST00000389934.3	-	14	2344	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	TEX14_ENST00000349033.5_Missense_Mutation_p.E743K|TEX14_ENST00000240361.8_Missense_Mutation_p.E749K	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	749						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCATCATTCTCGTGCATTATT	0.428													47	152					0	0	0	0	T	56676479	C	T	56676479	3	4	220	1	0	0	0	0	1	0	0	0	15872	893	31	1	2328	1	TEX14	17	56676479	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	328304	56676479	24518731	266	39481											
TBX2	6909	broad.mit.edu	37	chr17	59479058	59479058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccaggcggatgttccccCccttcaaggtgcgagtcagc	6	8	11	16	2	2	0	2	0	0	0	4	2	4	1	4	3	2	1	4	3	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:59479058C>T	ENST00000240328.3	+	2	690	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	137					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						GATGTTCCCCCCCTTCAAGGT	0.562													5	42					0	0	0	0	T	59479058	C	T	59479058	3	4	220	1	0	0	0	0	1	0	0	0	15749	623	22	4	415	4	TBX2	17	59479058	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	2802579	59479058	21716152	267	39482											
FADS6	283985	broad.mit.edu	37	chr17	72877306	72877306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgacacgttcaggagcagCcagtagtgagaataaaggcc	13	6	12	10	1	1	2	1	2	0	1	1	4	1	3	3	2	2	3	3	2	4	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:72877306C>A	ENST00000310226.6	-	4	632	c.618G>T	c.(616-618)tgG>tgT	p.W206C		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	212					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TCAGGAGCAGCCAGTAGTGAG	0.607													14	14					4.36969e-10	1.18212e-09	1	0	A	72877306	C	A	72877306	3	1	220	1	0	0	0	0	1	0	0	0	5409	740	26	4	446	4	FADS6	17	72877306	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	13398248	72877306	8317904	268	39483											
LGALS3BP	3959	broad.mit.edu	37	chr17	76967754	76967754	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggggaaggaggaggtgctCttcgagctgttggtgtccag	7	9	18	7	1	1	0	0	0	1	0	3	4	2	3	1	6	2	3	1	6	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:76967754C>T	ENST00000262776.3	-	6	1970	c.1662G>A	c.(1660-1662)aaG>aaA	p.K554K	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	554					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGAGGTGCTCTTCGAGCTGT	0.622											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	136					0	0	0	0	T	76967754	C	T	76967754	2	4	220	1	0	0	0	0	0	0	0	1	8797	912	32	2		2	LGALS3BP	17	76967754	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	4090448	76967754	4227456	269	39484											
METRNL	284207	broad.mit.edu	37	chr17	81050915	81050915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctttcttctccagcgcCgtgccgtccctgcagtgaca	4	11	9	17	3	2	1	0	1	2	0	4	1	3	1	5	0	4	1	5	0	0	2	rs146370282		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:81050915C>T	ENST00000571814.1	+	2	1255	c.314C>T	c.(313-315)cCg>cTg	p.P105L	METRNL_ENST00000570778.1_Missense_Mutation_p.P105L|METRNL_ENST00000320095.7_Missense_Mutation_p.P187L|METRNL_ENST00000571940.1_3'UTR			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	187						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TCTCCAGCGCCGTGCCGTCCC	0.617													5	17					0	0	0	0	T	81050915	C	T	81050915	3	4	220	1	0	0	0	0	1	0	0	0	9558	652	23	1	570	1	METRNL	17	81050915	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	4083161	81050915	144295	270	39485											
POTEC	388468	broad.mit.edu	37	chr18	14537933	14537933	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatcagcgccatgttccAgcaacattaacacacattca	13	11	5	12	1	2	1	2	1	0	0	3	1	3	1	2	0	4	2	2	0	2	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr18:14537933A>T	ENST00000358970.5	-	3	676	c.677T>A	c.(676-678)cTg>cAg	p.L226Q	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	226										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCCATGTTCCAGCAACATTAA	0.383													10	95					0	0	0	0	T	14537933	A	T	14537933	3	4	220	1	0	0	0	0	1	0	0	0	12334	188	7	5	987	5	POTEC	18	14537933	Missense_Mutation	SNP	A	TCGA-CR-7399-01A-11D-2012-08		14537933	63539315	271	39486											
ALPK2	115701	broad.mit.edu	37	chr18	56247140	56247140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggttgtttgttggccaCggcactgtcacctgggtaaa	6	12	14	9	1	1	0	1	0	0	0	1	0	1	0	2	4	0	6	2	4	2	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr18:56247140C>T	ENST00000361673.3	-	4	1081	c.868G>A	c.(868-870)Gtg>Atg	p.V290M		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	290							ATP binding|protein serine/threonine kinase activity			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						TTGTTGGCCACGGCACTGTCA	0.488											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	59					0	0	0	0	T	56247140	C	T	56247140	3	4	220	1	0	0	0	0	1	0	0	0	545	536	19	1	5684	1	ALPK2	18	56247140	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	41709207	56247140	21830108	272	39487											
CBLN2	147381	broad.mit.edu	37	chr18	70209167	70209167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctagggaggaggtgacggCgccgtccgccgacgggctgg	5	4	20	12	6	0	1	0	1	0	0	1	4	1	3	4	6	0	1	4	6	1	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr18:70209167C>A	ENST00000269503.4	-	3	1002	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S	CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.A77S|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	77						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GAGGTGACGGCGCCGTCCGCC	0.711													8	15					0.000157383	0.00034969	1	0	A	70209167	C	A	70209167	3	1	220	1	0	0	0	0	1	0	0	0	2730	768	27	3	457	3	CBLN2	18	70209167	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	13962027	70209167	7868081	273	39488											
ARRDC5	645432	broad.mit.edu	37	chr19	4902866	4902866	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggtagagagacattccTctctgtcccccatgtccctg	6	10	12	13	0	1	2	0	0	1	2	5	3	4	2	4	3	0	1	4	3	1	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:4902866T>C	ENST00000381781.2	-	1	13	c.14A>G	c.(13-15)gAg>gGg	p.E5G		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	5					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAGACATTCCTCTCTGTCCCC	0.542													21	33					0	0	0	0	C	4902866	T	C	4902866	3	2	220	1	0	0	0	0	1	0	0	0	990	1551	54	5	1026	5	ARRDC5	19	4902866	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08		4902866	54226117	274	39489											
PRR22	163154	broad.mit.edu	37	chr19	5783814	5783814	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcccggggccctcaggCgggaagtagggcaagagaaa	10	4	17	10	2	2	1	1	0	1	1	2	3	2	2	2	6	0	2	2	6	4	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:5783814C>A	ENST00000419421.2	-	3	548	c.444G>T	c.(442-444)ccG>ccT	p.P148P		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	146	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GGCCCTCAGGCGGGAAGTAGG	0.716													6	4					0.00116845	0.00246814	1	0	A	5783814	C	A	5783814	2	1	220	1	0	0	0	0	0	0	0	1	12673	755	27	3		3	PRR22	19	5783814	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	880948	5783814	53345169	275	39490											
MUC16	94025	broad.mit.edu	37	chr19	9012852	9012852	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcgtactgcaggttGgtgatggtgaagttgagggt	6	13	15	7	1	0	3	0	3	0	0	3	3	2	3	2	4	2	4	2	4	2	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9012852G>T	ENST00000397910.4	-	34	38795	c.38592C>A	c.(38590-38592)acC>acA	p.T12864T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12866	SEA 6.			Missing (in Ref. 3; AAK74120).	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						ACTGCAGGTTGGTGATGGTGA	0.547													7	139					0.000274275	0.000599054	1	0	T	9012852	G	T	9012852	2	4	220	1	0	0	0	0	0	0	0	1	10043	1335	47	4		4	MUC16	19	9012852	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	3229038	9012852	50116131	276	39491											
MUC16	94025	broad.mit.edu	37	chr19	9049185	9049185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgttgtagctggttcacCaggggagtttgtcagagctc	8	12	13	8	0	2	1	2	0	0	1	3	2	2	2	1	3	3	6	1	3	2	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9049185C>T	ENST00000397910.4	-	5	32649	c.32446G>A	c.(32446-32448)Ggt>Agt	p.G10816S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10818	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						GCTGGTTCACCAGGGGAGTTT	0.478													30	82					0	0	0	0	T	9049185	C	T	9049185	3	4	220	1	0	0	0	0	1	0	0	0	10043	594	21	4	11397	4	MUC16	19	9049185	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	36333	9049185	50079798	277	39492											
MUC16	94025	broad.mit.edu	37	chr19	9085769	9085769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagagactgaattctcatGggtaggggaagcagacactg	14	7	14	6	0	1	4	1	1	1	3	2	6	1	5	0	3	1	2	0	3	4	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9085769G>A	ENST00000397910.4	-	1	6249	c.6046C>T	c.(6046-6048)Cat>Tat	p.H2016Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2016	Ser-rich.|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						GAATTCTCATGGGTAGGGGAA	0.463													17	52					0	0	0	0	A	9085769	G	A	9085769	3	1	220	1	0	0	0	0	1	0	0	0	10043	1348	47	4	37813	4	MUC16	19	9085769	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	36584	9085769	50043214	278	39493											
OR7D2	162998	broad.mit.edu	37	chr19	9297244	9297244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggtccacttcacttctGcggtgactcactcttcccag	5	13	9	14	1	4	1	2	1	2	0	6	1	6	1	2	3	1	0	2	3	0	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9297244G>A	ENST00000344248.2	+	1	966	c.787G>A	c.(787-789)Gcg>Acg	p.A263T		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	263					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTTCACTTCTGCGGTGACTCA	0.512													23	58					0	0	0	0	A	9297244	G	A	9297244	3	1	220	1	0	0	0	0	1	0	0	0	11290	1319	46	4	789	4	OR7D2	19	9297244	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	211475	9297244	49831739	279	39494											
CPAMD8	27151	broad.mit.edu	37	chr19	17122307	17122307	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcagatttggagagacGgtgaagatgcttatgagcac	11	9	14	7	1	1	5	1	2	0	3	1	7	1	6	1	3	2	2	1	3	2	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:17122307G>A	ENST00000443236.1	-	5	625	c.594C>T	c.(592-594)acC>acT	p.T198T	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Silent_p.T151T	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	151						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTGGAGAGACGGTGAAGATGC	0.587													30	70					0	0	0	0	A	17122307	G	A	17122307	2	1	220	1	0	0	0	0	0	0	0	1	3825	1103	39	1		1	CPAMD8	19	17122307	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	7825063	17122307	42006676	280	39495											
ZNF737	100129842	broad.mit.edu	37	chr19	20727499	20727499	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtagggtttctctccagTatgaattctcttatgtctag	7	19	8	7	0	3	1	0	1	3	0	6	1	4	1	1	1	0	3	1	1	5	7			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:20727499T>G	ENST00000427401.4	-	4	1604	c.1510A>C	c.(1510-1512)Act>Cct	p.T504P		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	504					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTCTCTCCAGTATGAATTCTC	0.393													4	16					0	0	0	0	G	20727499	T	G	20727499	3	3	220	1	0	0	0	0	1	0	0	0	18220	1638	57	5	104	5	ZNF737	19	20727499	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	3605192	20727499	38401484	281	39496											
ZNF257	113835	broad.mit.edu	37	chr19	22272134	22272134	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagccttttaatcgtttcTcataccttaccgtacataag	11	14	5	11	2	1	0	1	0	1	0	3	0	1	0	3	0	4	3	3	0	6	7			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:22272134T>A	ENST00000594947.1	+	4	1726	c.1582T>A	c.(1582-1584)Tca>Aca	p.S528T		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAATCGTTTCTCATACCTTAC	0.388													6	24					0	0	0	0	A	22272134	T	A	22272134	3	1	220	1	0	0	0	0	1	0	0	0	17895	1551	54	5	1596	5	ZNF257	19	22272134	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	1544635	22272134	36856849	282	39497											
ZNF254	9534	broad.mit.edu	37	chr19	24310288	24310288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacaaatgtgaagaatgtGgcaaatcttttagccaatcc	14	11	7	9	0	1	2	0	1	1	1	2	2	2	2	3	1	2	1	3	1	7	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:24310288G>T	ENST00000357002.4	+	4	1601	c.1486G>T	c.(1486-1488)Ggc>Tgc	p.G496C	ZNF254_ENST00000342944.6_Missense_Mutation_p.G411C	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	496					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGAAGAATGTGGCAAATCTTT	0.398													10	40					0.000442599	0.000953196	1	0	T	24310288	G	T	24310288	3	4	220	1	0	0	0	0	1	0	0	0	17893	1348	47	4	1500	4	ZNF254	19	24310288	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2038154	24310288	34818695	283	39498											
DLL3	10683	broad.mit.edu	37	chr19	39994757	39994757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatggcttctgtgaacaGcccggtgaatgccgatgcct	8	9	13	11	2	1	2	0	2	1	0	1	4	1	2	3	2	5	2	3	2	2	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:39994757G>T	ENST00000205143.4	+	5	706	c.699G>T	c.(697-699)caG>caT	p.Q233H	DLL3_ENST00000356433.5_Missense_Mutation_p.Q233H	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	233	EGF-like 1.				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTGTGAACAGCCCGGTGAAT	0.647													9	47					3.86212e-05	8.80975e-05	1	0	T	39994757	G	T	39994757	3	4	220	1	0	0	0	0	1	0	0	0	4604	962	34	4	717	4	DLL3	19	39994757	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	15684469	39994757	19134226	284	39499											
AXL	558	broad.mit.edu	37	chr19	41754717	41754717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaggtggctgtgaagaCgatgaagagtgagttacgtg	11	9	15	6	2	1	5	1	3	0	2	1	6	1	5	1	2	1	2	1	2	4	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:41754717C>T	ENST00000301178.4	+	14	1893	c.1703C>T	c.(1702-1704)aCg>aTg	p.T568M	AXL_ENST00000359092.3_Missense_Mutation_p.T559M|AXL_ENST00000593513.1_Missense_Mutation_p.T300M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	568	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCTGTGAAGACGATGAAGAGT	0.547													5	27					0	0	0	0	T	41754717	C	T	41754717	3	4	220	1	0	0	0	0	1	0	0	0	1242	536	19	1	1757	1	AXL	19	41754717	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	1759960	41754717	17374266	285	39500											
PSG2	5670	broad.mit.edu	37	chr19	43579547	43579547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcactgcggctggcactcCctgagttccgtatttcacat	6	12	10	13	2	2	1	2	1	0	0	4	1	4	1	2	3	1	4	2	3	1	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:43579547C>A	ENST00000406487.1	-	3	766	c.668G>T	c.(667-669)gGg>gTg	p.G223V		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	223	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GCTGGCACTCCCTGAGTTCCG	0.507													69	306					9.96456e-45	3.13579e-44	1	0	A	43579547	C	A	43579547	3	1	220	1	0	0	0	0	1	0	0	0	12734	623	22	4	351	4	PSG2	19	43579547	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	1824830	43579547	15549436	286	39501											
FKRP	79147	broad.mit.edu	37	chr19	47259844	47259844	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcaactgcgagcagctgcgGggggcagaggccggctcggt	6	4	20	11	4	0	1	0	0	0	1	1	2	0	1	1	7	5	5	1	7	1	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:47259844G>C	ENST00000318584.5	+	4	1434	c.1137G>C	c.(1135-1137)cgG>cgC	p.R379R	FKRP_ENST00000391909.3_Silent_p.R379R|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	379						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		AGCAGCTGCGGGGGGCAGAGG	0.657													4	17					0	0	0	0	C	47259844	G	C	47259844	2	2	220	1	0	0	0	0	0	0	0	1	5962	1219	43	4		4	FKRP	19	47259844	Silent	SNP	G	TCGA-CR-7399-01A-11D-2012-08	3680297	47259844	11869139	287	39502											
SIGLEC11	114132	broad.mit.edu	37	chr19	50462047	50462047	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccacggtctgtccccAccgggtccagctcagcctgg	4	6	14	17	2	2	0	1	0	1	0	4	0	4	0	6	5	2	1	6	5	0	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:50462047A>C	ENST00000447370.2	-	7	1306	c.1216T>G	c.(1216-1218)Tgg>Ggg	p.W406G	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	406	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GTCTGTCCCCACCGGGTCCAG	0.682													3	70					0	0	0	0	C	50462047	A	C	50462047	3	2	220	1	0	0	0	0	1	0	0	0	14395	159	6	5	900	5	SIGLEC11	19	50462047	Missense_Mutation	SNP	A	TCGA-CR-7399-01A-11D-2012-08	3202203	50462047	8666936	288	39503											
SIGLEC6	946	broad.mit.edu	37	chr19	52034090	52034090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagggaggtgggggcagctGacatccaggagaagatgggg	10	4	20	7	0	0	3	0	1	0	2	1	5	1	4	2	7	1	2	2	7	1	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:52034090G>A	ENST00000346477.3	-	3	619	c.551C>T	c.(550-552)tCa>tTa	p.S184L	SIGLEC6_ENST00000425629.3_Missense_Mutation_p.S184L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.S148L|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.S184L|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.S184L|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.S173L	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	184	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGGGGCAGCTGACATCCAGGA	0.657													15	66					0	0	0	0	A	52034090	G	A	52034090	3	1	220	1	0	0	0	0	1	0	0	0	14400	1294	45	2	867	2	SIGLEC6	19	52034090	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	1572043	52034090	7094893	289	39504											
ZNF615	284370	broad.mit.edu	37	chr19	52505068	52505068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcctctcactcaccaGaacagattcgagagtagatt	11	10	8	12	1	2	4	2	0	1	4	5	5	3	4	2	0	2	3	2	0	2	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:52505068G>T	ENST00000602063.1	-	5	585	c.236C>A	c.(235-237)tCt>tAt	p.S79Y	ZNF615_ENST00000597747.1_Missense_Mutation_p.S79Y|ZNF615_ENST00000598071.1_Missense_Mutation_p.S79Y|ZNF615_ENST00000594083.1_Missense_Mutation_p.S79Y|ZNF615_ENST00000391795.3_Missense_Mutation_p.S84Y|ZNF615_ENST00000376716.5_Missense_Mutation_p.S79Y			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCACTCACCAGAACAGATTCG	0.507													8	33					5.18039e-06	1.22895e-05	1	0	T	52505068	G	T	52505068	3	4	220	1	0	0	0	0	1	0	0	0	18135	942	33	2	1967	2	ZNF615	19	52505068	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	470978	52505068	6623915	290	39505											
ZNF320	162967	broad.mit.edu	37	chr19	53367282	53367282	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggaggaacattttccTcacccacagactccaggttc	9	11	8	13	0	2	1	1	0	1	1	5	3	4	3	3	3	1	1	3	3	1	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:53367282T>A	ENST00000597909.1	-	6	590	c.354A>T	c.(352-354)tgA>tgT	p.*118C				A2RRD8	ZN320_HUMAN	zinc finger protein 320	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		AACATTTTCCTCACCCACAGA	0.468													18	41					0	0	0	0	A	53367282	T	A	53367282	4	1	220	1	0	0	0	0	0	0	0	0	17934	1566	54	5		5	ZNF320	19	53367282	Nonstop_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	862214	53367282	5761701	291	39506											
NLRP13	126204	broad.mit.edu	37	chr19	56422098	56422098	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaatcaaacttgcttgTccttcatgagggagagacag	11	10	11	9	0	2	2	2	1	0	1	3	5	3	4	2	2	2	1	2	2	2	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:56422098T>A	ENST00000588751.1	-	6	2137	c.2111_splice	c.e6-1	p.T705_splice	NLRP13_ENST00000342929.3_Splice_Site_p.T705_splice			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	705							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AACTTGCTTGTCCTTCATGAG	0.438													18	75					0	0	0	0	A	56422098	T	A	56422098	5	1	220	1	0	0	0	0	0	0	1	0	10545	1681	58	5	1040	5	NLRP13	19	56422098	Splice_Site	SNP	T	TCGA-CR-7399-01A-11D-2012-08	3054816	56422098	2706885	292	39507											
PEG3	5178	broad.mit.edu	37	chr19	57326339	57326339	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatacagctgctctccagtGtaatctctctgatactcgct	8	14	6	13	1	4	1	1	1	3	0	7	1	4	1	1	0	4	4	1	0	3	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:57326339G>T	ENST00000326441.9	-	10	3834	c.3471C>A	c.(3469-3471)taC>taA	p.Y1157*	PEG3_ENST00000598410.1_Nonsense_Mutation_p.Y1033*|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Nonsense_Mutation_p.Y1031*|PEG3_ENST00000423103.2_Nonsense_Mutation_p.Y1157*|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1157					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTCTCCAGTGTAATCTCTCT	0.448													27	111					1.74197e-06	4.26369e-06	1	0	T	57326339	G	T	57326339	4	4	220	1	0	0	0	0	0	1	0	0	11791	1372	48	4	1299	4	PEG3	19	57326339	Nonsense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	904241	57326339	1802644	293	39508											
PLCB1	23236	broad.mit.edu	37	chr20	8637904	8637904	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaacctttgccctcgacCtgaaattgataacatctttt	12	13	4	12	1	1	2	0	2	1	0	2	3	1	2	3	0	4	0	3	0	4	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr20:8637904C>A	ENST00000378641.3	+	8	1143	c.668C>A	c.(667-669)cCt>cAt	p.P223H	PLCB1_ENST00000338037.6_Missense_Mutation_p.P223H|PLCB1_ENST00000378637.2_Missense_Mutation_p.P223H	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	223					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCCCTCGACCTGAAATTGAT	0.393													10	71					4.68919e-08	1.18926e-07	1	0	A	8637904	C	A	8637904	3	1	220	1	0	0	0	0	1	0	0	0	12099	681	24	4	698	4	PLCB1	20	8637904	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08		8637904	54387616	294	39509											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812833	31812833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcccaccagctgccagaCatcctgcactttggccagat	9	8	9	15	0	0	3	0	1	0	2	1	3	1	3	5	1	4	2	5	1	0	1			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr21:31812833C>A	ENST00000334067.3	+	1	237	c.188C>A	c.(187-189)aCa>aAa	p.T63K		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	63						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCTGCCAGACATCCTGCACT	0.512													15	59					7.93312e-07	1.95413e-06	1	0	A	31812833	C	A	31812833	3	1	220	1	0	0	0	0	1	0	0	0	8578	478	17	4	190	4	KRTAP15-1	21	31812833	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08		31812833	16317062	295	39510											
PPM1F	9647	broad.mit.edu	37	chr22	22285593	22285593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaaatgacctgggaatccCcgagccaggcgacgtgcagg	11	4	13	13	3	0	1	0	1	0	0	1	4	1	2	5	3	2	1	5	3	3	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr22:22285593C>A	ENST00000407142.1	-	4	1374	c.314G>T	c.(313-315)gGg>gTg	p.G105V	PPM1F_ENST00000263212.5_Missense_Mutation_p.G273V|PPM1F_ENST00000538191.1_Missense_Mutation_p.G169V|PPM1F_ENST00000397495.4_Missense_Mutation_p.G273V			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	273	Poly-Glu.				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CTGGGAATCCCCGAGCCAGGC	0.632													21	52					1.9806e-07	4.97408e-07	1	0	A	22285593	C	A	22285593	3	1	220	1	0	0	0	0	1	0	0	0	12415	623	22	4	558	4	PPM1F	22	22285593	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08		22285593	29018973	296	39511											
FANCB	2187	broad.mit.edu	37	chrX	14882732	14882732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attattggatataaaggataCaacgaaaaagaggtttcctc	17	11	8	5	1	0	1	0	0	0	1	2	4	1	3	1	3	2	1	1	3	8	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:14882732C>G	ENST00000398334.1	-	3	1168	c.901G>C	c.(901-903)Gta>Cta	p.V301L	FANCB_ENST00000324138.3_Missense_Mutation_p.V301L	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	301					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)					ATAAAGGATACAACGAAAAAG	0.378								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	39					0	0	0	0	G	14882732	C	G	14882732	3	3	220	1	0	0	0	0	1	0	0	0	5708	478	17	4	1710	4	FANCB	23	14882732	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08		14882732	140387828	297	39512											
CDKL5	6792	broad.mit.edu	37	chrX	18638053	18638053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaagcaaggatttttcagGtcaatgaaaaagaaaaagaa	21	7	10	3	0	2	4	2	1	0	3	2	6	2	5	0	2	1	1	0	2	8	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:18638053G>T	ENST00000379989.3	+	17	2628	c.2343G>T	c.(2341-2343)agG>agT	p.R781S	CDKL5_ENST00000379996.3_Missense_Mutation_p.R781S|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	781					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GATTTTTCAGGTCAATGAAAA	0.289													8	14					1.26484e-09	3.35119e-09	1	0	T	18638053	G	T	18638053	3	4	220	1	0	0	0	0	1	0	0	0	3186	1252	44	4	2401	4	CDKL5	23	18638053	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	3755321	18638053	136632507	298	39513											
PHKA2	5256	broad.mit.edu	37	chrX	18913306	18913306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatcgatggagagaccgtGgcactggaggcagaatagag	13	5	15	8	2	0	3	0	0	0	3	1	7	0	5	2	4	0	2	2	4	2	1	rs148627941		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:18913306G>A	ENST00000379942.4	-	31	3951	c.3286C>T	c.(3286-3288)Cac>Tac	p.H1096Y	PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1096	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GAGAGACCGTGGCACTGGAGG	0.552													23	65					0	0	0	0	A	18913306	G	A	18913306	3	1	220	1	0	0	0	0	1	0	0	0	11916	1348	47	4	433	4	PHKA2	23	18913306	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	275253	18913306	136357254	299	39514											
MAGEB18	286514	broad.mit.edu	37	chrX	26158123	26158123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtctagcagcttctccCatgctaagtgaaatctgagg	10	10	9	12	1	3	2	0	2	3	0	4	2	3	2	2	1	3	3	2	1	3	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:26158123C>A	ENST00000325250.1	+	2	1208	c.1021C>A	c.(1021-1023)Cat>Aat	p.H341N		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	341							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CAGCTTCTCCCATGCTAAGTG	0.502													3	9					0.004672	0.00973544	1	0	A	26158123	C	A	26158123	3	1	220	1	0	0	0	0	1	0	0	0	9244	594	21	4	1023	4	MAGEB18	23	26158123	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	7244817	26158123	129112437	300	39515											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29973487	29973487	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaccaaaatgcaacaagttGaactccaagttctggaaacg	16	7	9	9	1	1	1	0	1	1	0	2	3	2	3	2	2	4	3	2	2	7	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:29973487G>C	ENST00000378993.1	+	11	2314	c.1641G>C	c.(1639-1641)ttG>ttC	p.L547F	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L547F	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	547	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCAACAAGTTGAACTCCAAGT	0.448													7	16					0	0	0	0	C	29973487	G	C	29973487	3	2	220	1	0	0	0	0	1	0	0	0	7714	1281	45	2	1679	2	IL1RAPL1	23	29973487	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	3815364	29973487	125297073	301	39516											
MAGEB1	4112	broad.mit.edu	37	chrX	30269597	30269597	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcgtcgcactactgcCacgacttttagagcgcgttc	7	9	11	14	5	0	1	0	0	0	1	2	2	0	1	2	1	3	2	2	1	2	4			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:30269597C>A	ENST00000378981.3	+	4	1308	c.987C>A	c.(985-987)gcC>gcA	p.A329A	MAGEB1_ENST00000397548.2_Silent_p.A329A|MAGEB1_ENST00000397550.1_Silent_p.A329A	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	329										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GCACTACTGCCACGACTTTTA	0.532													13	54					2.27111e-07	5.68515e-07	1	0	A	30269597	C	A	30269597	2	1	220	1	0	0	0	0	0	0	0	1	9241	581	21	4		4	MAGEB1	23	30269597	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	296110	30269597	125000963	302	39517											
DMD	1756	broad.mit.edu	37	chrX	32366523	32366523	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatcacaaccaatttacCatatctttattgaagtcttc	12	18	2	9	0	3	1	1	1	2	0	4	1	3	1	2	0	2	0	2	0	7	9			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:32366523C>T	ENST00000357033.4	-	38	5654	c.5448_splice	c.e38+1	p.M1816_splice	DMD_ENST00000378677.2_Splice_Site_p.M1812_splice	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1816	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACCAATTTACCATATCTTTAT	0.353													12	37					0	0	0	0	T	32366523	C	T	32366523	5	4	220	1	0	0	0	0	0	0	1	0	4617	608	21	4	5925	4	DMD	23	32366523	Splice_Site	SNP	C	TCGA-CR-7399-01A-11D-2012-08	2096926	32366523	122904037	303	39518											
RPGR	6103	broad.mit.edu	37	chrX	38145138	38145138	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttctccttcctcctctccTtcctcttcctctccttcccc	0	18	0	23	0	5	0	0	0	5	0	13	0	10	0	9	0	0	0	9	0	0	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:38145138T>C	ENST00000378505.2	-	15	3290	c.3114A>G	c.(3112-3114)gaA>gaG	p.E1038E	RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	827					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cctcctctccttcctcttcct	0.552													3	12					0	0	0	0	C	38145138	T	C	38145138	2	2	220	1	0	0	0	0	0	0	0	1	13633	1606	56	5		5	RPGR	23	38145138	Silent	SNP	T	TCGA-CR-7399-01A-11D-2012-08	5778615	38145138	117125422	304	39519											
PFKFB1	5207	broad.mit.edu	37	chrX	54978369	54978369	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaactgagaggccagagtcaCctccgatgcggcctctgatg	9	7	13	12	2	2	3	1	2	1	2	3	6	3	3	4	2	2	0	4	2	1	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:54978369C>G	ENST00000375006.3	-	8	885	c.815G>C	c.(814-816)gGt>gCt	p.G272A	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.G207A	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	272	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GCCAGAGTCACCTCCGATGCG	0.582													8	11					0	0	0	0	G	54978369	C	G	54978369	3	3	220	1	0	0	0	0	1	0	0	0	11832	507	18	4	628	4	PFKFB1	23	54978369	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	16833231	54978369	100292191	305	39520											
MTMR8	55613	broad.mit.edu	37	chrX	63563520	63563520	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaattccagcatccataaTagctttaatgtgtcttaacc	14	13	5	9	0	1	0	0	0	1	0	3	1	3	0	3	0	3	2	3	0	6	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:63563520T>G	ENST00000374852.3	-	8	1013	c.946A>C	c.(946-948)Att>Ctt	p.I316L	MTMR8_ENST00000453546.1_Missense_Mutation_p.I316L|MTMR8_ENST00000478487.1_5'UTR	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	316	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GCATCCATAATAGCTTTAATG	0.358													4	15					0	0	0	0	G	63563520	T	G	63563520	3	3	220	1	0	0	0	0	1	0	0	0	10019	1406	49	5	1196	5	MTMR8	23	63563520	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	8585151	63563520	91707040	306	39521											
AWAT2	158835	broad.mit.edu	37	chrX	69262102	69262102	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttggtgaagccacgtccaTagaaagcacaagggtagatg	13	8	12	8	1	1	3	0	1	1	2	2	3	2	3	2	2	2	2	2	2	5	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:69262102T>C	ENST00000276101.3	-	6	787	c.782A>G	c.(781-783)tAt>tGt	p.Y261C		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	261						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GCCACGTCCATAGAAAGCACA	0.537													12	26					0	0	0	0	C	69262102	T	C	69262102	3	2	220	1	0	0	0	0	1	0	0	0	1239	1406	49	5	227	5	AWAT2	23	69262102	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	5698582	69262102	86008458	307	39522											
TAF9B	51616	broad.mit.edu	37	chrX	77393354	77393354	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggcaaaggggtttgattTttctgccttgcgatatccag	8	14	12	7	1	1	1	0	1	1	0	2	2	2	1	2	3	2	2	2	3	2	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:77393354T>C	ENST00000341864.5	-	4	391	c.297A>G	c.(295-297)aaA>aaG	p.K99K		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	99					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						GGGTTTGATTTTTCTGCCTTG	0.343													20	55					0	0	0	0	C	77393354	T	C	77393354	2	2	220	1	0	0	0	0	0	0	0	1	15627	1838	64	5		5	TAF9B	23	77393354	Silent	SNP	T	TCGA-CR-7399-01A-11D-2012-08	8131252	77393354	77877206	308	39523											
BRWD3	254065	broad.mit.edu	37	chrX	79999597	79999597	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgcacaagttcgaagacaCcatactcttactaccttatc	12	11	6	12	1	1	1	0	0	1	1	3	2	1	1	2	1	4	2	2	1	6	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:79999597C>G	ENST00000373275.4	-	8	963	c.747G>C	c.(745-747)tgG>tgC	p.W249C		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	249										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCGAAGACACCATACTCTTA	0.413													8	43					0	0	0	0	G	79999597	C	G	79999597	3	3	220	1	0	0	0	0	1	0	0	0	1534	508	18	4	4797	4	BRWD3	23	79999597	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	2606243	79999597	75270963	309	39524											
DACH2	117154	broad.mit.edu	37	chrX	85969660	85969660	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatctcaatactattgcCaacatggctgctgcagcaca	13	9	6	13	0	1	0	1	0	1	0	2	0	1	0	2	1	7	4	2	1	5	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:85969660C>A	ENST00000373131.1	+	5	1165	c.1002C>A	c.(1000-1002)gcC>gcA	p.A334A	DACH2_ENST00000510272.1_Silent_p.A128A|DACH2_ENST00000373125.4_Silent_p.A347A|DACH2_ENST00000508860.1_Silent_p.A180A	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATACTATTGCCAACATGGCTG	0.448													8	65					0.000442599	0.000953196	1	0	A	85969660	C	A	85969660	2	1	220	1	0	0	0	0	0	0	0	1	4254	581	21	4		4	DACH2	23	85969660	Silent	SNP	C	TCGA-CR-7399-01A-11D-2012-08	5970063	85969660	69300900	310	39525											
ARMCX2	9823	broad.mit.edu	37	chrX	100912388	100912388	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatcctgacccaaggtcgaTtgtgaatccggctcttagcc	9	10	10	12	2	1	2	0	2	1	0	4	4	3	2	4	2	1	1	4	2	4	2			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:100912388T>C	ENST00000328766.5	-	5	640	c.187A>G	c.(187-189)Atc>Gtc	p.I63V	ARMCX2_ENST00000330154.2_Missense_Mutation_p.I63V|ARMCX2_ENST00000467416.1_5'UTR|ARMCX2_ENST00000356824.4_Missense_Mutation_p.I63V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	63						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCAAGGTCGATTGTGAATCCG	0.597													15	59					0	0	0	0	C	100912388	T	C	100912388	3	2	220	1	0	0	0	0	1	0	0	0	964	1493	52	5	1715	5	ARMCX2	23	100912388	Missense_Mutation	SNP	T	TCGA-CR-7399-01A-11D-2012-08	14942728	100912388	54358172	311	39526											
DCX	1641	broad.mit.edu	37	chrX	110644217	110644217	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtactttgaaaaagtacctaCctgttttccatccagagtgt	11	14	7	9	0	0	2	0	1	0	1	2	2	2	2	4	0	3	3	4	0	5	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:110644217C>A	ENST00000338081.3	-	3	1120		c.e3+1		DCX_ENST00000496551.1_Splice_Site|DCX_ENST00000488120.1_Splice_Site|DCX_ENST00000356220.3_Splice_Site|DCX_ENST00000371993.2_Splice_Site|DCX_ENST00000356915.2_Splice_Site	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin						axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AAAGTACCTACCTGTTTTCCA	0.398													31	116					1.08312e-15	3.13942e-15	1	0	A	110644217	C	A	110644217	5	1	220	1	0	0	0	0	0	0	1	0	4350	521	18	4	411	4	DCX	23	110644217	Splice_Site	SNP	C	TCGA-CR-7399-01A-11D-2012-08	9731829	110644217	44626343	312	39527											
LUZP4	51213	broad.mit.edu	37	chrX	114540770	114540770	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataattgggatccttttcagGagaagtgcagtgacaattat	13	13	10	5	0	1	2	1	1	0	1	2	4	2	3	1	2	1	1	1	2	4	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:114540770G>T	ENST00000371920.3	+	4	350	c.342_splice	c.e4-1	p.E115_splice	LUZP4_ENST00000451986.2_Splice_Site_p.E33_splice	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	115						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TCCTTTTCAGGAGAAGTGCAG	0.378													6	32					0.00116845	0.00246814	1	0	T	114540770	G	T	114540770	5	4	220	1	0	0	0	0	0	0	1	0	9152	1188	41	2	357	2	LUZP4	23	114540770	Splice_Site	SNP	G	TCGA-CR-7399-01A-11D-2012-08	3896553	114540770	40729790	313	39528											
GPC3	2719	broad.mit.edu	37	chrX	133087117	133087117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaataattaagaacttgagCtccatacttgcagactgaag	15	11	8	7	0	0	5	0	3	0	2	1	5	1	5	1	0	4	2	1	0	6	5			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:133087117C>A	ENST00000370818.3	-	2	742	c.297G>T	c.(295-297)gaG>gaT	p.E99D	GPC3_ENST00000543339.1_Intron|GPC3_ENST00000394299.2_Missense_Mutation_p.E99D	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	99						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGAACTTGAGCTCCATACTTG	0.438			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				31	174					5.60225e-13	1.59975e-12	1	0	A	133087117	C	A	133087117	3	1	220	1	0	0	0	0	1	0	0	0	6648	796	28	4	1546	4	GPC3	23	133087117	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	18546347	133087117	22183443	314	39529											
MCF2	4168	broad.mit.edu	37	chrX	138708352	138708352	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaatgttttaactgacCtgttgaaaatcctgctcaaa	16	12	6	7	0	1	3	1	2	0	1	2	3	2	3	2	0	2	3	2	0	6	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:138708352C>A	ENST00000520602.1	-	9	1152	c.867_splice	c.e9+1	p.Q289_splice	MCF2_ENST00000536274.1_Splice_Site_p.Q190_splice|MCF2_ENST00000519895.1_Splice_Site_p.Q289_splice|MCF2_ENST00000370576.4_Splice_Site_p.Q229_splice|MCF2_ENST00000414978.1_Splice_Site_p.Q289_splice|MCF2_ENST00000338585.6_Splice_Site_p.Q229_splice|MCF2_ENST00000370573.4_Splice_Site_p.Q229_splice|MCF2_ENST00000370578.4_Splice_Site_p.Q374_splice			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	229					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTTAACTGACCTGTTGAAAAT	0.348													11	67					4.68919e-08	1.18926e-07	1	0	A	138708352	C	A	138708352	5	1	220	1	0	0	0	0	0	0	1	0	9447	695	24	4	2250	4	MCF2	23	138708352	Splice_Site	SNP	C	TCGA-CR-7399-01A-11D-2012-08	5621235	138708352	16562208	315	39530											
MAGEA5	4104	broad.mit.edu	37	chrX	151284231	151284231	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatcctggtcagcctgtccCctgagaacctgaaggaaaaa	12	8	10	11	0	1	3	1	3	0	1	3	5	3	4	5	2	2	0	5	2	4	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:151284231C>T	ENST00000509345.2	-	0	180																											CAGCCTGTCCCCTGAGAACCT	0.552													4	23					0	0	0	0	T	151284231	C	T	151284231	1	4	220	0	1	0	0	0	0	0	0	0	9236	638	22	4		4	MAGEA5	23	151284231	RNA	SNP	C	TCGA-CR-7399-01A-11D-2012-08	12575879	151284231	3986329	316	39531											
DNASE1L1	1774	broad.mit.edu	37	chrX	153631469	153631469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtccgcagctccagcttGtccaggcgctttttggtcag	5	12	11	13	2	2	0	2	0	0	0	5	0	5	0	3	2	2	4	3	2	0	3			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:153631469G>T	ENST00000369809.1	-	9	1217	c.588C>A	c.(586-588)gaC>gaA	p.D196E	DNASE1L1_ENST00000393638.1_Missense_Mutation_p.D196E	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	196					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTCCAGCTTGTCCAGGCGCT	0.622													22	67					6.44725e-10	1.73805e-09	1	0	T	153631469	G	T	153631469	3	4	220	1	0	0	0	0	1	0	0	0	4697	1368	48	4	328	4	DNASE1L1	23	153631469	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	2347238	153631469	1639091	317	39532											
PLXNA3	55558	broad.mit.edu	37	chrX	153695707	153695707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccacgtgcaaacggccCgctccctcaaccgctcctcc	7	6	8	20	4	1	0	1	0	0	0	4	1	4	1	6	2	3	3	6	2	2	0			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:153695707C>T	ENST00000369682.3	+	19	3509	c.3334C>T	c.(3334-3336)Cgc>Tgc	p.R1112C		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1112	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.R1112S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAAACGGCCCGCTCCCTCAA	0.652													9	57					0	0	0	0	T	153695707	C	T	153695707	3	4	220	1	0	0	0	0	1	0	0	0	12193	652	23	1	3404	1	PLXNA3	23	153695707	Missense_Mutation	SNP	C	TCGA-CR-7399-01A-11D-2012-08	64238	153695707	1574853	318	39533											
TMLHE	55217	broad.mit.edu	37	chrX	154736700	154736700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcaaattcctcaggtGccttttgaagtacctgttct	8	15	9	9	0	3	1	2	1	1	0	4	2	4	2	3	2	2	3	3	2	3	6			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:154736700G>T	ENST00000334398.3	-	6	999	c.854C>A	c.(853-855)gCa>gAa	p.A285E	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.A285E	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	285					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	TTCCTCAGGTGCCTTTTGAAG	0.418													39	104					1.03484e-13	2.96602e-13	1	0	T	154736700	G	T	154736700	3	4	220	1	0	0	0	0	1	0	0	0	16326	1319	46	4	563	4	TMLHE	23	154736700	Missense_Mutation	SNP	G	TCGA-CR-7399-01A-11D-2012-08	1040993	154736700	533860	319	39534											
ZMYM6	9204	broad.mit.edu	37	chr1	35484994	35484994	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgggaggaggtggcaGgcaggcaggtgaagaatgtc	9	9	18	5	0	1	2	0	1	1	1	2	4	1	4	0	7	0	3	0	7	2	2			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr1:35484994G>A	ENST00000357182.4	-	4	615	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	ZMYM6_ENST00000373333.1_Silent_p.L130L|ZMYM6_ENST00000487874.1_Silent_p.L130L|ZMYM6_ENST00000373340.2_Silent_p.L130L|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000317538.5_Silent_p.L130L	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	130					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGAGGTGGCAGGCAGGCAGGT	0.403													14	42					0	0	0	0	A	35484994	G	A	35484994	2	1	221	1	0	0	0	0	0	0	0	1	17799	991	35	4		4	ZMYM6	1	35484994	Silent	SNP	G	TCGA-CR-7401-01A-11D-2012-08		35484994	213765627	1	39535											
INADL	10207	broad.mit.edu	37	chr1	62263043	62263043	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtggtacacctaaccCtagttcgaaggaagacatcc	12	7	11	11	1	0	1	0	0	0	1	2	3	1	2	3	4	2	3	3	4	5	4	rs145732252		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr1:62263043C>G	ENST00000371158.2	+	11	1459	c.1345C>G	c.(1345-1347)Cta>Gta	p.L449V	INADL_ENST00000316485.6_Missense_Mutation_p.L449V	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	449	PDZ 3.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ACACCTAACCCTAGTTCGAAG	0.443													27	96					0	0	0	0	G	62263043	C	G	62263043	3	3	221	1	0	0	0	0	1	0	0	0	7784	680	24	4	1383	4	INADL	1	62263043	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	26778049	62263043	186987578	2	39536											
ARHGEF2	9181	broad.mit.edu	37	chr1	155924729	155924729	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaagcctcatcctctgtctCaatcagggggaagtcctccc	8	10	9	14	0	4	0	3	0	2	0	8	1	7	1	4	2	1	1	4	2	3	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr1:155924729C>G	ENST00000368316.1	-	18	2133	c.1663G>C	c.(1663-1665)Gag>Cag	p.E555Q	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.E555Q|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.E583Q|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.E584Q|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.E582Q			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	583	PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCTCTGTCTCAATCAGGGGG	0.478													14	71					0	0	0	0	G	155924729	C	G	155924729	3	3	221	1	0	0	0	0	1	0	0	0	905	835	29	2	1249	2	ARHGEF2	1	155924729	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	93661686	155924729	93325892	3	39537											
KIF14	9928	broad.mit.edu	37	chr1	200550381	200550381	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgatagcattggcttcctGaatcatcattgagagtttca	10	14	9	8	0	3	3	3	3	0	1	4	4	4	3	1	1	1	4	1	1	2	5			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr1:200550381G>A	ENST00000367350.4	-	20	3721	c.3283C>T	c.(3283-3285)Cag>Tag	p.Q1095*		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1095	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTGGCTTCCTGAATCATCATT	0.338													9	68					0	0	0	0	A	200550381	G	A	200550381	4	1	221	1	0	0	0	0	0	1	0	0	8327	1299	45	2	1707	2	KIF14	1	200550381	Nonsense_Mutation	SNP	G	TCGA-CR-7401-01A-11D-2012-08	44625652	200550381	48700240	4	39538											
LYST	1130	broad.mit.edu	37	chr1	235940477	235940477	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaggttctaataagatGctctgaacttcttttgagct	10	16	9	6	0	3	5	0	4	3	1	3	5	3	5	0	1	3	3	0	1	3	6			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr1:235940477G>A	ENST00000389794.3	-	17	5520	c.5346C>T	c.(5344-5346)agC>agT	p.S1782S	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.S1782S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1782					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTAATAAGATGCTCTGAACTT	0.378													21	84					0	0	0	0	A	235940477	G	A	235940477	2	1	221	1	0	0	0	0	0	0	0	1	9193	1310	46	4		4	LYST	1	235940477	Silent	SNP	G	TCGA-CR-7401-01A-11D-2012-08	35390096	235940477	13310144	5	39539											
DPYSL5	56896	broad.mit.edu	37	chr2	27121505	27121505	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgagctcatgatccctggCggggccaaggtgattgatgc	7	8	15	11	3	1	3	1	3	0	0	2	4	2	3	2	4	2	1	2	4	1	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:27121505C>T	ENST00000288699.6	+	2	296	c.138C>T	c.(136-138)ggC>ggT	p.G46G	DPYSL5_ENST00000401478.1_Silent_p.G46G	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	46					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.G46G(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATCCCTGGCGGGGCCAAGG	0.592													14	57					0	0	0	0	T	27121505	C	T	27121505	2	4	221	1	0	0	0	0	0	0	0	1	4786	755	27	1		1	DPYSL5	2	27121505	Silent	SNP	C	TCGA-CR-7401-01A-11D-2012-08		27121505	216077868	6	39540											
CCDC85A	114800	broad.mit.edu	37	chr2	56420319	56420319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggagcagccctgaacaCgccaggcacagtggagggag	11	3	16	11	1	1	1	1	1	0	0	1	4	1	4	2	4	3	2	2	4	1	0			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:56420319C>T	ENST00000407595.2	+	2	1486	c.984C>T	c.(982-984)caC>caT	p.H328H	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	328	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCCCTGAACACGCCAGGCACA	0.662													11	112					0	0	0	0	T	56420319	C	T	56420319	2	4	221	1	0	0	0	0	0	0	0	1	2886	535	19	1		1	CCDC85A	2	56420319	Silent	SNP	C	TCGA-CR-7401-01A-11D-2012-08	29298814	56420319	186779054	7	39541											
POLR1B	84172	broad.mit.edu	37	chr2	113331325	113331325	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtttataggagcaaaactgCagtacggagatccgtattac	13	10	10	8	3	0	1	0	0	0	1	1	3	1	2	1	2	5	5	1	2	7	6			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:113331325C>T	ENST00000263331.5	+	14	3038	c.2458C>T	c.(2458-2460)Cag>Tag	p.Q820*	POLR1B_ENST00000417433.2_Nonsense_Mutation_p.Q764*|POLR1B_ENST00000409894.3_Nonsense_Mutation_p.Q637*|POLR1B_ENST00000537335.1_Nonsense_Mutation_p.Q609*|POLR1B_ENST00000541869.1_Nonsense_Mutation_p.Q858*	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	820					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AGCAAAACTGCAGTACGGAGA	0.448													19	105					0	0	0	0	T	113331325	C	T	113331325	4	4	221	1	0	0	0	0	0	1	0	0	12282	711	25	4	2512	4	POLR1B	2	113331325	Nonsense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	56911006	113331325	129868048	8	39542											
CPO	130749	broad.mit.edu	37	chr2	207824389	207824389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagacaactcaagtatacGcaagctccttaggaacctgg	15	8	8	10	1	1	1	1	0	0	1	2	2	2	2	2	2	4	3	2	2	9	4			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:207824389G>A	ENST00000272852.3	+	5	453	c.407G>A	c.(406-408)cGc>cAc	p.R136H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	136					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TCAAGTATACGCAAGCTCCTT	0.353													4	46					0	0	0	0	A	207824389	G	A	207824389	3	1	221	1	0	0	0	0	1	0	0	0	3850	1087	38	1	425	1	CPO	2	207824389	Missense_Mutation	SNP	G	TCGA-CR-7401-01A-11D-2012-08	94493064	207824389	35374984	9	39543											
ERBB4	2066	broad.mit.edu	37	chr2	212495211	212495211	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttccaagaatcttctcaaGgctcttttctttttgatgct	7	19	6	9	0	4	2	1	1	4	1	6	2	5	2	1	1	1	3	1	1	3	6			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:212495211G>A	ENST00000342788.4	-	17	2365	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	ERBB4_ENST00000402597.1_Silent_p.A675A|ERBB4_ENST00000436443.1_Silent_p.A685A	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	685					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATCTTCTCAAGGCTCTTTTCT	0.393										TSP Lung(8;0.080)			14	80					0	0	0	0	A	212495211	G	A	212495211	2	1	221	1	0	0	0	0	0	0	0	1	5247	987	35	4		4	ERBB4	2	212495211	Silent	SNP	G	TCGA-CR-7401-01A-11D-2012-08	4670822	212495211	30704162	10	39544											
TNS1	7145	broad.mit.edu	37	chr2	218713727	218713727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgtggcattaacagcccCggtgctgccgtgcagggagt	7	8	15	11	3	0	0	0	0	0	0	0	1	0	1	3	3	5	3	3	3	1	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:218713727C>T	ENST00000171887.4	-	17	1590	c.1138G>A	c.(1138-1140)Ggg>Agg	p.G380R	TNS1_ENST00000419504.1_Missense_Mutation_p.G380R|TNS1_ENST00000430930.1_Missense_Mutation_p.G380R|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	380						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTAACAGCCCCGGTGCTGCCG	0.607													41	163					0	0	0	0	T	218713727	C	T	218713727	3	4	221	1	0	0	0	0	1	0	0	0	16437	652	23	1	4137	1	TNS1	2	218713727	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	6218516	218713727	24485646	11	39545											
C2orf83	56918	broad.mit.edu	37	chr2	228476326	228476326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catgtctgtacggtaagtttCctcatccctgggtcccaagg	7	12	10	12	1	2	0	1	0	1	0	5	0	5	0	3	3	1	3	3	3	3	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:228476326C>T	ENST00000264387.4	-	3	323	c.237G>A	c.(235-237)agG>agA	p.R79R	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	79						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						CGGTAAGTTTCCTCATCCCTG	0.468													18	65					0	0	0	0	T	228476326	C	T	228476326	2	4	221	1	0	0	0	0	0	0	0	1	2218	854	30	2		2	C2orf83	2	228476326	Silent	SNP	C	TCGA-CR-7401-01A-11D-2012-08	9762599	228476326	14723047	12	39546											
SP140L	93349	broad.mit.edu	37	chr2	231264899	231264899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggggagctgttctgttgcGacacttgttcaagagtcttc	7	13	13	8	1	3	1	1	0	2	1	4	4	3	2	0	2	2	4	0	2	1	5			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:231264899G>A	ENST00000243810.6	+	15	1255	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N	SP140L_ENST00000396563.4_Missense_Mutation_p.D384N|SP140L_ENST00000415673.2_Missense_Mutation_p.D419N|SP140L_ENST00000444636.1_Missense_Mutation_p.D419N			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	419						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GTTCTGTTGCGACACTTGTTC	0.498													21	79					0	0	0	0	A	231264899	G	A	231264899	3	1	221	1	0	0	0	0	1	0	0	0	15051	1058	37	1	1313	1	SP140L	2	231264899	Missense_Mutation	SNP	G	TCGA-CR-7401-01A-11D-2012-08	2788573	231264899	11934474	13	39547											
KLHL30	377007	broad.mit.edu	37	chr2	239049729	239049729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgacacgcacggctgcgCgcctgcacttcccctcggtg	4	7	12	18	6	0	1	0	1	0	0	2	1	1	1	3	2	2	4	3	2	0	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:239049729C>T	ENST00000409223.1	+	2	441	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	KLHL30_ENST00000305959.4_Missense_Mutation_p.R94C			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	112										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CACGGCTGCGCGCCTGCACTT	0.667													18	81					0	0	0	0	T	239049729	C	T	239049729	3	4	221	1	0	0	0	0	1	0	0	0	8436	768	27	1	336	1	KLHL30	2	239049729	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	7784830	239049729	4149644	14	39548											
TMEM115	11070	broad.mit.edu	37	chr3	50392907	50392907	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactcctcttcatcatcaTccatgctgggccagatggac	9	10	8	14	0	4	2	3	0	1	2	6	3	6	3	3	2	1	1	3	2	0	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr3:50392907T>C	ENST00000266025.3	-	2	1469	c.923A>G	c.(922-924)gAt>gGt	p.D308G	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	308					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCATCATCATCCATGCTGGG	0.607													9	36					0	0	0	0	C	50392907	T	C	50392907	3	2	221	1	0	0	0	0	1	0	0	0	16123	1435	50	5	136	5	TMEM115	3	50392907	Missense_Mutation	SNP	T	TCGA-CR-7401-01A-11D-2012-08		50392907	147629523	15	39549											
EPHA3	2042	broad.mit.edu	37	chr3	89478308	89478308	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaatggttccttggatagTttcctacgtgtaagtaagat	11	14	11	5	1	0	2	0	0	0	2	2	4	2	3	2	2	1	4	2	2	5	7			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr3:89478308T>C	ENST00000336596.2	+	12	2352	c.2127T>C	c.(2125-2127)agT>agC	p.S709S	EPHA3_ENST00000494014.1_Silent_p.S709S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	709	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCTTGGATAGTTTCCTACGTG	0.323										TSP Lung(6;0.00050)			12	34					0	0	0	0	C	89478308	T	C	89478308	2	2	221	1	0	0	0	0	0	0	0	1	5206	1722	60	5		5	EPHA3	3	89478308	Silent	SNP	T	TCGA-CR-7401-01A-11D-2012-08	39085401	89478308	108544122	16	39550											
EPHA6	285220	broad.mit.edu	37	chr3	96706230	96706230	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccattcacacataccaggtAtgtaatgtaatggaaccaaa	16	9	6	10	0	1	0	1	0	0	0	1	1	1	1	3	2	2	3	3	2	6	5			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr3:96706230A>G	ENST00000389672.5	+	3	545	c.507A>G	c.(505-507)gtA>gtG	p.V169V	EPHA6_ENST00000542517.1_Silent_p.V75V|EPHA6_ENST00000470610.2_Silent_p.V169V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	74	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATACCAGGTATGTAATGTAA	0.378													16	127					0	0	0	0	G	96706230	A	G	96706230	2	3	221	1	0	0	0	0	0	0	0	1	5209	436	16	5		5	EPHA6	3	96706230	Silent	SNP	A	TCGA-CR-7401-01A-11D-2012-08	7227922	96706230	101316200	17	39551											
PIK3CA	5290	broad.mit.edu	37	chr3	178921549	178921549	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctttgtgcaacctacgTgaatgtaaatattcgagaca	14	13	7	7	2	1	2	0	1	1	1	2	3	1	2	1	0	3	2	1	0	7	6			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr3:178921549T>G	ENST00000263967.3	+	5	1188	c.1031T>G	c.(1030-1032)gTg>gGg	p.V344G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	344					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.V344G(8)|p.V344A(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GCAACCTACGTGAATGTAAAT	0.303		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			9	44					0	0	0	0	G	178921549	T	G	178921549	3	3	221	1	0	0	0	0	1	0	0	0	11985	1696	59	5	1045	5	PIK3CA	3	178921549	Missense_Mutation	SNP	T	TCGA-CR-7401-01A-11D-2012-08	82215319	178921549	19100881	18	39552											
MCF2L2	23101	broad.mit.edu	37	chr3	183041051	183041051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttacccactgaccgtggCgatattccaaagtcccccct	9	10	7	15	2	0	1	0	1	0	0	2	3	2	1	6	1	1	0	6	1	3	4			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr3:183041051C>T	ENST00000328913.3	-	6	872	c.575G>A	c.(574-576)cGc>cAc	p.R192H	MCF2L2_ENST00000447025.2_Missense_Mutation_p.R192H|MCF2L2_ENST00000414362.2_Missense_Mutation_p.R192H|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R192H	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	192	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTGACCGTGGCGATATTCCAA	0.488													23	79					0	0	0	0	T	183041051	C	T	183041051	3	4	221	1	0	0	0	0	1	0	0	0	9449	768	27	1	2869	1	MCF2L2	3	183041051	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	4119502	183041051	14981379	19	39553											
JAKMIP1	152789	broad.mit.edu	37	chr4	6058428	6058428	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggggtcacgcacctttTccagcaagtcttggtttgtt	6	14	12	9	1	2	0	1	0	1	0	3	0	3	0	2	4	1	4	2	4	1	5			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr4:6058428T>C	ENST00000409021.3	-	12	2152	c.1703A>G	c.(1702-1704)gAa>gGa	p.E568G	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E568G|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E383G|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E568G|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E403G	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	568	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACGCACCTTTTCCAGCAAGTC	0.542													18	72					0	0	0	0	C	6058428	T	C	6058428	3	2	221	1	0	0	0	0	1	0	0	0	7993	1783	62	5	907	5	JAKMIP1	4	6058428	Missense_Mutation	SNP	T	TCGA-CR-7401-01A-11D-2012-08		6058428	185095848	20	39554											
YTHDC1	91746	broad.mit.edu	37	chr4	69203343	69203343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttcaggatcccttttccGgacacaggttttttcaggtt	6	16	8	11	1	2	0	2	0	0	0	4	2	4	2	3	4	0	2	3	4	0	7			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr4:69203343G>A	ENST00000344157.4	-	3	741	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	YTHDC1_ENST00000579690.1_Missense_Mutation_p.R136W|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R136W	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	136										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TCCCTTTTCCGGACACAGGTT	0.403													5	43					0	0	0	0	A	69203343	G	A	69203343	3	1	221	1	0	0	0	0	1	0	0	0	17592	1115	39	1	1837	1	YTHDC1	4	69203343	Missense_Mutation	SNP	G	TCGA-CR-7401-01A-11D-2012-08	63144915	69203343	121950933	21	39555											
SLC4A4	8671	broad.mit.edu	37	chr4	72215743	72215743	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacatgtatggagaaaggAtccatcatgcttgatcggga	13	9	13	6	1	1	2	1	1	0	1	3	6	2	5	1	4	1	2	1	4	2	2			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr4:72215743A>T	ENST00000340595.3	+	2	568	c.372A>T	c.(370-372)ggA>ggT	p.G124G	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Silent_p.G124G|SLC4A4_ENST00000425175.1_Silent_p.G168G|SLC4A4_ENST00000264485.5_Silent_p.G168G|SLC4A4_ENST00000351898.6_Silent_p.G168G	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	168						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGGAGAAAGGATCCATCATGC	0.453													15	70					0	0	0	0	T	72215743	A	T	72215743	2	4	221	1	0	0	0	0	0	0	0	1	14744	320	12	5		5	SLC4A4	4	72215743	Silent	SNP	A	TCGA-CR-7401-01A-11D-2012-08	3012400	72215743	118938533	22	39556											
PRSS12	8492	broad.mit.edu	37	chr4	119219987	119219987	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttccaatatcttgcttgaTacagtcagccaaggacctct	10	13	6	12	0	4	1	1	1	3	0	5	2	5	2	3	1	3	1	3	1	4	5			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr4:119219987T>C	ENST00000296498.3	-	9	2020	c.1738A>G	c.(1738-1740)Atc>Gtc	p.I580V		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	580	SRCR 4.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCTTGCTTGATACAGTCAGCC	0.448													12	63					0	0	0	0	C	119219987	T	C	119219987	3	2	221	1	0	0	0	0	1	0	0	0	12694	1406	49	5	909	5	PRSS12	4	119219987	Missense_Mutation	SNP	T	TCGA-CR-7401-01A-11D-2012-08	47004244	119219987	71934289	23	39557											
FAT4	79633	broad.mit.edu	37	chr4	126242740	126242740	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagaacacagagagcagAggtaatgattttgtagtcat	14	10	10	7	0	1	4	1	1	0	3	2	5	2	4	1	1	2	3	1	1	3	4			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr4:126242740A>G	ENST00000394329.3	+	1	5187	c.5175_splice	c.e1+1	p.E1725_splice		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1725	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGAGAGCAGAGGTAATGATT	0.353													8	28					0	0	0	0	G	126242740	A	G	126242740	5	3	221	1	0	0	0	0	0	0	1	0	5737	318	11	5	5176	5	FAT4	4	126242740	Splice_Site	SNP	A	TCGA-CR-7401-01A-11D-2012-08	7022753	126242740	64911536	24	39558											
FAT4	79633	broad.mit.edu	37	chr4	126412581	126412581	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatatacttccagaatgccCaaattatctcaagtcaatga	15	12	5	9	0	2	2	2	1	1	1	4	2	3	2	2	0	2	1	2	0	8	5			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr4:126412581C>A	ENST00000394329.3	+	17	14617	c.14604C>A	c.(14602-14604)ccC>ccA	p.P4868P	FAT4_ENST00000335110.5_Silent_p.P3109P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4868				P -> S (in Ref. 4; BAB15534).	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAATGCCCAAATTATCTC	0.458													17	46					3.52763e-06	3.86095e-06	1	0	A	126412581	C	A	126412581	2	1	221	1	0	0	0	0	0	0	0	1	5737	581	21	4		4	FAT4	4	126412581	Silent	SNP	C	TCGA-CR-7401-01A-11D-2012-08	169841	126412581	64741695	25	39559											
GZMK	3003	broad.mit.edu	37	chr5	54320494	54320494	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctacttttgtaggtttcaAtatggaaattattggaggga	11	16	11	3	0	2	0	1	0	1	0	2	3	2	3	0	4	1	2	0	4	6	8			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr5:54320494A>T	ENST00000231009.2	+	2	141	c.71A>T	c.(70-72)aAt>aTt	p.N24I	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000596909.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	24					proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GTAGGTTTCAATATGGAAATT	0.383													7	19					0	0	0	0	T	54320494	A	T	54320494	3	4	221	1	0	0	0	0	1	0	0	0	6968	101	4	5	77	5	GZMK	5	54320494	Missense_Mutation	SNP	A	TCGA-CR-7401-01A-11D-2012-08		54320494	126594766	26	39560											
FSTL4	23105	broad.mit.edu	37	chr5	132652310	132652310	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgccagaaggacattcttCaagcgggcgtagccggccat	10	7	13	11	3	2	1	1	0	1	1	2	2	2	2	3	3	3	1	3	3	3	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr5:132652310C>T	ENST00000265342.7	-	5	693	c.444G>A	c.(442-444)ttG>ttA	p.L148L		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	148						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGACATTCTTCAAGCGGGCGT	0.547											OREG0016777	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	80					0	0	0	0	T	132652310	C	T	132652310	2	4	221	1	0	0	0	0	0	0	0	1	6127	825	29	2		2	FSTL4	5	132652310	Silent	SNP	C	TCGA-CR-7401-01A-11D-2012-08	78331816	132652310	48262950	27	39561											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731697	140731697	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcacgggtgaggtgcgcAcagcgcgtgccttgggcgac	5	6	18	12	6	0	1	0	1	0	0	0	2	0	1	1	3	4	2	1	3	0	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr5:140731697A>C	ENST00000523390.1	+	1	1870	c.1870A>C	c.(1870-1872)Aca>Cca	p.T624P	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGTGCGCACAGCGCGTGC	0.706													9	57					0	0	0	0	C	140731697	A	C	140731697	3	2	221	1	0	0	0	0	1	0	0	0	11633	159	6	5	1872	5	PCDHGB1	5	140731697	Missense_Mutation	SNP	A	TCGA-CR-7401-01A-11D-2012-08	8079387	140731697	40183563	28	39562											
HIST1H2BI	8346	broad.mit.edu	37	chr6	26273547	26273547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaacacgcggtgtcggaggGcaccaaggcggtcaccaagt	11	4	14	12	4	1	0	1	0	0	0	2	1	1	1	2	5	1	1	2	5	3	0			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr6:26273547G>A	ENST00000377733.2	+	1	404	c.344G>A	c.(343-345)gGc>gAc	p.G115D		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	115					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						GTGTCGGAGGGCACCAAGGCG	0.567													15	55					0	0	0	0	A	26273547	G	A	26273547	3	1	221	1	0	0	0	0	1	0	0	0	7198	1203	42	4	346	4	HIST1H2BI	6	26273547	Missense_Mutation	SNP	G	TCGA-CR-7401-01A-11D-2012-08		26273547	144841520	29	39563											
MAPK14	1432	broad.mit.edu	37	chr6	36020563	36020563	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcattcatgcgaaaagaacCtacagagaactgcggttact	15	9	8	9	2	2	2	2	0	0	2	2	4	2	2	1	1	6	1	1	1	6	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr6:36020563C>T	ENST00000229795.3	+	2	651	c.204C>T	c.(202-204)acC>acT	p.T68T	MAPK14_ENST00000468133.1_5'UTR|MAPK14_ENST00000229794.4_Silent_p.T68T|MAPK14_ENST00000310795.4_Silent_p.T68T	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	68	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						CGAAAAGAACCTACAGAGAAC	0.378													8	36					0	0	0	0	T	36020563	C	T	36020563	2	4	221	1	0	0	0	0	0	0	0	1	9345	668	24	4		4	MAPK14	6	36020563	Silent	SNP	C	TCGA-CR-7401-01A-11D-2012-08	9747016	36020563	135094504	30	39564											
REV3L	5980	broad.mit.edu	37	chr6	111697700	111697700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcatagaataagtgctttCgtttgtaaaagaagtgactg	13	15	9	4	1	1	3	1	1	0	2	2	3	1	3	0	0	1	3	0	0	6	6			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr6:111697700C>T	ENST00000435970.1	-	15	2440	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	REV3L_ENST00000358835.3_Missense_Mutation_p.E620K|REV3L_ENST00000368805.1_Missense_Mutation_p.E620K|REV3L_ENST00000368802.3_Missense_Mutation_p.E620K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	620					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAAGTGCTTTCGTTTGTAAAA	0.333								DNA polymerases (catalytic subunits)					9	50					0	0	0	0	T	111697700	C	T	111697700	3	4	221	1	0	0	0	0	1	0	0	0	13322	893	31	1	7614	1	REV3L	6	111697700	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	75677137	111697700	59417367	31	39565											
LAMA2	3908	broad.mit.edu	37	chr6	129687384	129687384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtggagatgagtgcactGgccttcttctcggtgacttg	5	15	13	8	1	2	3	0	2	2	1	3	4	2	3	1	3	1	1	1	3	0	4			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr6:129687384G>A	ENST00000421865.2	+	33	4787	c.4738G>A	c.(4738-4740)Ggc>Agc	p.G1580S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1580	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAGTGCACTGGCCTTCTTCT	0.468													11	88					0	0	0	0	A	129687384	G	A	129687384	3	1	221	1	0	0	0	0	1	0	0	0	8659	1348	47	4	4868	4	LAMA2	6	129687384	Missense_Mutation	SNP	G	TCGA-CR-7401-01A-11D-2012-08	17989684	129687384	41427683	32	39566											
TAAR6	319100	broad.mit.edu	37	chr6	132891604	132891604	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgtgctggctgtgttTggaaacctcctggtgatgat	5	13	16	7	0	0	2	0	2	0	0	1	3	1	3	2	5	2	4	2	5	1	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr6:132891604T>C	ENST00000275198.1	+	1	144	c.144T>C	c.(142-144)ttT>ttC	p.F48F		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	48						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TGGCTGTGTTTGGAAACCTCC	0.527													18	110					0	0	0	0	C	132891604	T	C	132891604	2	2	221	1	0	0	0	0	0	0	0	1	15583	1809	63	5		5	TAAR6	6	132891604	Silent	SNP	T	TCGA-CR-7401-01A-11D-2012-08	3204220	132891604	38223463	33	39567											
MICALL2	79778	broad.mit.edu	37	chr7	1477796	1477796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctccagggcgtccagccGcctctcgatgtcctgcagct	5	8	12	16	3	1	0	0	0	1	0	5	2	4	0	5	1	4	3	5	1	0	0			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr7:1477796G>A	ENST00000297508.7	-	12	2423	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	MICALL2_ENST00000405088.4_Missense_Mutation_p.R538W|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	750						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GCGTCCAGCCGCCTCTCGATG	0.726													5	8					0	0	0	0	A	1477796	G	A	1477796	3	1	221	1	0	0	0	0	1	0	0	0	9643	1086	38	1	490	1	MICALL2	7	1477796	Missense_Mutation	SNP	G	TCGA-CR-7401-01A-11D-2012-08		1477796	157660867	34	39568											
ZNF804B	219578	broad.mit.edu	37	chr7	88963951	88963951	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaaaattccagaggaaatAtaatttggactacagtgatt	17	11	9	4	0	0	2	0	1	0	1	1	5	1	5	1	3	1	0	1	3	6	6			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr7:88963951A>G	ENST00000333190.4	+	4	2264	c.1655A>G	c.(1654-1656)tAt>tGt	p.Y552C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	552						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAGAGGAAATATAATTTGGAC	0.343										HNSCC(36;0.09)			4	40					0	0	0	0	G	88963951	A	G	88963951	3	3	221	1	0	0	0	0	1	0	0	0	18264	449	16	5	1669	5	ZNF804B	7	88963951	Missense_Mutation	SNP	A	TCGA-CR-7401-01A-11D-2012-08	87486155	88963951	70174712	35	39569											
ZNF789	285989	broad.mit.edu	37	chr7	99074083	99074083	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaggccgtggaagccatgTtcccaccagccagggggaag	10	4	14	13	1	0	0	0	0	0	0	1	2	1	2	6	4	2	1	6	4	2	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr7:99074083T>G	ENST00000331410.5	+	2	274	c.4T>G	c.(4-6)Ttc>Gtc	p.F2V	ZNF789_ENST00000379724.3_Missense_Mutation_p.F2V|ZNF789_ENST00000493485.1_5'UTR|ZNF789_ENST00000448667.1_5'UTR|ZNF789_ENST00000483089.1_5'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGAAGCCATGTTCCCACCAGC	0.562													7	52					0	0	0	0	G	99074083	T	G	99074083	3	3	221	1	0	0	0	0	1	0	0	0	18253	1725	60	5	6	5	ZNF789	7	99074083	Missense_Mutation	SNP	T	TCGA-CR-7401-01A-11D-2012-08	10110132	99074083	60064580	36	39570											
PIK3CG	5294	broad.mit.edu	37	chr7	106508732	106508732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccgacgacacccccggCgccatcctgcagagcttctt	7	7	8	19	4	2	1	1	0	1	1	3	3	3	1	5	1	2	2	5	1	0	2			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr7:106508732C>T	ENST00000359195.3	+	2	1036	c.726C>T	c.(724-726)ggC>ggT	p.G242G	PIK3CG_ENST00000496166.1_Silent_p.G242G|PIK3CG_ENST00000440650.2_Silent_p.G242G	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	242					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACACCCCCGGCGCCATCCTGC	0.527													18	98					0	0	0	0	T	106508732	C	T	106508732	2	4	221	1	0	0	0	0	0	0	0	1	11988	755	27	1		1	PIK3CG	7	106508732	Silent	SNP	C	TCGA-CR-7401-01A-11D-2012-08	7434649	106508732	52629931	37	39571											
PLXNA4	91584	broad.mit.edu	37	chr7	132192500	132192500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgccaagcacggcccccGctttggacaggtaggcagcc	7	6	12	16	2	0	0	0	0	0	0	1	1	1	1	5	4	3	4	5	4	2	2			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr7:132192500G>A	ENST00000359827.3	-	2	1915	c.953C>T	c.(952-954)gCg>gTg	p.A318V	PLXNA4_ENST00000423507.2_Missense_Mutation_p.A318V|PLXNA4_ENST00000321063.4_Missense_Mutation_p.A318V|PLXNA4_ENST00000378539.5_Missense_Mutation_p.A318V			Q9HCM2	PLXA4_HUMAN	plexin A4	318	Sema.					integral to membrane|intracellular|plasma membrane		p.A318V(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACGGCCCCCGCTTTGGACAG	0.582													7	42					0	0	0	0	A	132192500	G	A	132192500	3	1	221	1	0	0	0	0	1	0	0	0	12194	1087	38	1	5169	1	PLXNA4	7	132192500	Missense_Mutation	SNP	G	TCGA-CR-7401-01A-11D-2012-08	25683768	132192500	26946163	38	39572											
C7orf49	78996	broad.mit.edu	37	chr7	134852541	134852541	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcattcatgcagtacacAgtccttgtcgcagggagtct	8	11	10	12	1	3	0	2	0	1	0	5	1	4	1	2	1	2	3	2	1	1	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr7:134852541A>G	ENST00000430372.1	-	3	478	c.153T>C	c.(151-153)acT>acC	p.T51T	C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000393114.3_Silent_p.T52T|C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000483029.2_5'UTR	NM_001243751.1|NM_024033.3	NP_001230680.1|NP_076938.2	Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	52						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TGCAGTACACAGTCCTTGTCG	0.473													3	86					0	0	0	0	G	134852541	A	G	134852541	2	3	221	1	0	0	0	0	0	0	0	1	2421	175	7	5		5	C7orf49	7	134852541	Silent	SNP	A	TCGA-CR-7401-01A-11D-2012-08	2660041	134852541	24286122	39	39573											
USP17L2	377630	broad.mit.edu	37	chr8	11996173	11996173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggagagaagtccgctGgatttcagcaaaagctgcat	12	8	12	9	1	2	1	2	0	0	1	3	4	3	3	1	2	3	4	1	2	3	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr8:11996173G>T	ENST00000333796.3	-	1	413	c.97C>A	c.(97-99)Cag>Aag	p.Q33K	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	33					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GAAGTCCGCTGGATTTCAGCA	0.527													17	82					1.33834e-09	1.50023e-09	1	0	T	11996173	G	T	11996173	3	4	221	1	0	0	0	0	1	0	0	0	17144	1357	47	4	1499	4	USP17L2	8	11996173	Missense_Mutation	SNP	G	TCGA-CR-7401-01A-11D-2012-08		11996173	134367849	40	39574											
PREX2	80243	broad.mit.edu	37	chr8	69031723	69031723	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaacaggacaagatacatAgttgccttgagcatcttttc	14	12	7	8	0	1	2	0	1	1	1	2	3	1	3	1	1	4	2	1	1	5	7			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr8:69031723A>G	ENST00000288368.4	+	28	3755	c.3478A>G	c.(3478-3480)Agt>Ggt	p.S1160G		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1160					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAAGATACATAGTTGCCTTGA	0.388													48	55					0	0	0	0	G	69031723	A	G	69031723	3	3	221	1	0	0	0	0	1	0	0	0	12557	420	15	5	3817	5	PREX2	8	69031723	Missense_Mutation	SNP	A	TCGA-CR-7401-01A-11D-2012-08	57035550	69031723	77332299	41	39575											
TSPYL5	85453	broad.mit.edu	37	chr8	98290036	98290036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgccccggtttttggCgcgggaggactttcgacccc	3	11	13	14	4	0	0	0	0	0	0	1	3	0	2	5	4	1	1	5	4	0	4			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr8:98290036C>T	ENST00000322128.3	-	1	140	c.37G>A	c.(37-39)Gcc>Acc	p.A13T		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	13					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CGGTTTTTGGCGCGGGAGGAC	0.692													4	26					0	0	0	0	T	98290036	C	T	98290036	3	4	221	1	0	0	0	0	1	0	0	0	16757	768	27	1	1220	1	TSPYL5	8	98290036	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	29258313	98290036	48073986	42	39576											
SYBU	55638	broad.mit.edu	37	chr8	110587403	110587403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctgcaaaatccagctctCtcatgaggcggtttgcatga	10	10	11	10	1	2	2	1	2	1	0	4	2	3	2	1	3	3	5	1	3	2	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr8:110587403C>T	ENST00000399066.3	-	6	2442	c.1715G>A	c.(1714-1716)aGa>aAa	p.R572K	SYBU_ENST00000533895.1_Missense_Mutation_p.R574K|SYBU_ENST00000419099.1_Missense_Mutation_p.R574K|SYBU_ENST00000408908.2_Missense_Mutation_p.R575K|SYBU_ENST00000529175.1_Missense_Mutation_p.R369K|SYBU_ENST00000440310.1_Missense_Mutation_p.R575K|SYBU_ENST00000533171.1_Missense_Mutation_p.R575K|SYBU_ENST00000528331.1_Missense_Mutation_p.R456K|SYBU_ENST00000529690.1_Missense_Mutation_p.R445K|SYBU_ENST00000408889.3_Missense_Mutation_p.R456K|SYBU_ENST00000532779.1_Missense_Mutation_p.R507K|SYBU_ENST00000446070.2_Missense_Mutation_p.R574K|SYBU_ENST00000422135.1_Missense_Mutation_p.R575K|SYBU_ENST00000533065.1_Missense_Mutation_p.R456K|SYBU_ENST00000528647.1_Missense_Mutation_p.R574K|SYBU_ENST00000276646.9_Missense_Mutation_p.R575K|SYBU_ENST00000424158.2_Missense_Mutation_p.R580K|SYBU_ENST00000433638.1_Missense_Mutation_p.R575K	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	575						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ATCCAGCTCTCTCATGAGGCG	0.552													6	83					0	0	0	0	T	110587403	C	T	110587403	3	4	221	1	0	0	0	0	1	0	0	0	15517	913	32	2	271	2	SYBU	8	110587403	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	12297367	110587403	35776619	43	39577											
LRRC6	23639	broad.mit.edu	37	chr8	133622493	133622493	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtttcacttctgcaggaagGacaagctgaaatggctgaaa	13	9	12	7	0	2	2	1	2	1	0	2	4	2	4	0	4	2	4	0	4	4	2			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr8:133622493G>A	ENST00000519595.1	-	10	1157	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	LRRC6_ENST00000250173.1_Silent_p.V353V|LRRC6_ENST00000518642.1_Silent_p.V350V			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	353	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTGCAGGAAGGACAAGCTGAA	0.418													10	67					0	0	0	0	A	133622493	G	A	133622493	2	1	221	1	0	0	0	0	0	0	0	1	9080	1161	41	2		2	LRRC6	8	133622493	Silent	SNP	G	TCGA-CR-7401-01A-11D-2012-08	23035090	133622493	12741529	44	39578											
PTPRD	5789	broad.mit.edu	37	chr9	8499728	8499728	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcacataatgcacctgAtatcctcttatctggccatg	10	13	5	13	0	3	1	1	1	2	0	5	1	5	1	4	1	1	1	4	1	3	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr9:8499728A>G	ENST00000381196.4	-	22	2784	c.2241T>C	c.(2239-2241)taT>taC	p.Y747Y	PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Silent_p.Y747Y|PTPRD_ENST00000360074.4_Silent_p.Y734Y|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Silent_p.Y734Y|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.Y747Y|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	747	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATGCACCTGATATCCTCTTA	0.498										TSP Lung(15;0.13)			16	88					0	0	0	0	G	8499728	A	G	8499728	2	3	221	1	0	0	0	0	0	0	0	1	12881	340	12	5		5	PTPRD	9	8499728	Silent	SNP	A	TCGA-CR-7401-01A-11D-2012-08		8499728	132713703	45	39579											
SVEP1	79987	broad.mit.edu	37	chr9	113308490	113308490	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacatttgcagcttcccattCggtcacagcagtccttgcct	7	12	7	15	1	1	0	1	0	0	0	4	0	3	0	3	1	4	3	3	1	0	4			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr9:113308490C>G	ENST00000401783.2	-	3	1205	c.869G>C	c.(868-870)cGa>cCa	p.R290P	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.R290P|SVEP1_ENST00000374469.1_Missense_Mutation_p.R267P|SVEP1_ENST00000374461.1_Missense_Mutation_p.R267P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	290					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTTCCCATTCGGTCACAGCA	0.443													3	1					0	0	0	0	G	113308490	C	G	113308490	3	3	221	1	0	0	0	0	1	0	0	0	15510	884	31	3	10030	3	SVEP1	9	113308490	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	104808762	113308490	27904941	46	39580											
PTGS1	5742	broad.mit.edu	37	chr9	125154466	125154466	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttccccttatctccttgtAggagagaaggagatggcagc	10	11	11	9	0	1	2	0	0	1	2	3	5	2	3	3	3	1	2	3	3	3	4			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr9:125154466A>G	ENST00000362012.2	+	11	1449		c.e11-1		PTGS1_ENST00000373698.5_Splice_Site|PTGS1_ENST00000223423.4_Splice_Site|PTGS1_ENST00000540753.1_Splice_Site	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)						cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	ATCTCCTTGTAGGAGAGAAGG	0.488													10	24					0	0	0	0	G	125154466	A	G	125154466	5	3	221	1	0	0	0	0	0	0	1	0	12835	434	15	5	1485	5	PTGS1	9	125154466	Splice_Site	SNP	A	TCGA-CR-7401-01A-11D-2012-08	11845976	125154466	16058965	47	39581											
USP20	10868	broad.mit.edu	37	chr9	132637882	132637882	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacatcgacgacctggtggtCatcctgccccagaacgtctg	8	9	10	14	3	2	1	1	0	1	1	4	3	3	1	4	2	3	0	4	2	2	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr9:132637882C>T	ENST00000315480.4	+	21	2420	c.2262C>T	c.(2260-2262)gtC>gtT	p.V754V	USP20_ENST00000358355.1_Silent_p.V754V|USP20_ENST00000372429.3_Silent_p.V754V			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	754	DUSP 1.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ACCTGGTGGTCATCCTGCCCC	0.622													26	61					0	0	0	0	T	132637882	C	T	132637882	2	4	221	1	0	0	0	0	0	0	0	1	17148	813	29	2		2	USP20	9	132637882	Silent	SNP	C	TCGA-CR-7401-01A-11D-2012-08	7483416	132637882	8575549	48	39582											
LCNL1	401562	broad.mit.edu	37	chr9	139879239	139879239	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtacttggagatgcggAaagggggcctgcggaaccag	9	7	17	8	2	0	1	0	0	0	1	0	4	0	3	2	5	5	2	2	5	3	2			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr9:139879239A>G	ENST00000408973.2	+	3	865	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	LCNL1_ENST00000432827.1_Intron	NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	91							binding										GGAGATGCGGAAAGGGGGCCT	0.662													7	9					0	0	0	0	G	139879239	A	G	139879239	3	3	221	1	0	0	0	0	1	0	0	0	8741	247	9	5	281	5	LCNL1	9	139879239	Missense_Mutation	SNP	A	TCGA-CR-7401-01A-11D-2012-08	7241357	139879239	1334192	49	39583											
SERGEF	26297	broad.mit.edu	37	chr11	18028145	18028145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgaactcacctgtgagCataatcgtaaaatcccagcc	13	8	9	11	1	1	2	1	2	0	0	3	3	2	3	3	1	3	2	3	1	4	2			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:18028145C>A	ENST00000265965.5	-	3	496	c.345G>T	c.(343-345)atG>atT	p.M115I	SERGEF_ENST00000528200.1_Missense_Mutation_p.M115I|SERGEF_ENST00000532212.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000532265.1_Start_Codon_SNP_p.M1I	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	115					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CACCTGTGAGCATAATCGTAA	0.468													14	86					2.61681e-11	2.95721e-11	1	0	A	18028145	C	A	18028145	3	1	221	1	0	0	0	0	1	0	0	0	14164	710	25	4	1067	4	SERGEF	11	18028145	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08		18028145	116978371	50	39584											
OR4X1	390113	broad.mit.edu	37	chr11	48285470	48285470	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggattttcccagaattggAgtgagcagagggtcatttct	9	13	13	6	0	2	3	1	1	1	2	3	5	3	5	1	3	1	1	1	3	1	4			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:48285470A>G	ENST00000320048.1	+	1	58	c.58A>G	c.(58-60)Agt>Ggt	p.S20G		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCAGAATTGGAGTGAGCAGAG	0.453													3	55					0	0	0	0	G	48285470	A	G	48285470	3	3	221	1	0	0	0	0	1	0	0	0	11155	304	11	5	60	5	OR4X1	11	48285470	Missense_Mutation	SNP	A	TCGA-CR-7401-01A-11D-2012-08	30257325	48285470	86721046	51	39585											
MS4A14	84689	broad.mit.edu	37	chr11	60183772	60183772	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagatcttcaaccagaaaAcactgaacctcaaaaccagc	17	5	4	15	0	3	3	2	1	1	2	3	3	3	3	4	0	5	0	4	0	6	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:60183772A>T	ENST00000300187.6	+	5	1608	c.1331A>T	c.(1330-1332)aAc>aTc	p.N444I	MS4A14_ENST00000531783.1_Missense_Mutation_p.N477I|MS4A14_ENST00000395005.2_Missense_Mutation_p.N427I|MS4A14_ENST00000531787.1_Missense_Mutation_p.N332I	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	444	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CAACCAGAAAACACTGAACCT	0.413													10	51					0	0	0	0	T	60183772	A	T	60183772	3	4	221	1	0	0	0	0	1	0	0	0	9928	43	2	5	1349	5	MS4A14	11	60183772	Missense_Mutation	SNP	A	TCGA-CR-7401-01A-11D-2012-08	11898302	60183772	74822744	52	39586											
ACTN3	89	broad.mit.edu	37	chr11	66325699	66325699	+	RNA	DEL	T	T	-																															tcttggggtggagattggtgTgcaggggcaggaggggaggt																										TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:66325699delT	ENST00000502692.1	+	0	1521				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						GAGATTGGTGTGCAGGGGCAG	0.587													7	46	---	---	---	---					-	66325699	T	-	66325699	6	5	221	0	1	1	0	1	0	0	0	0	206	1711	59	0		0	ACTN3	11	66325699	RNA	DEL	T	TCGA-CR-7401-01A-11D-2012-08	6141927	66325699	68680817	53	39587											
TBC1D10C	374403	broad.mit.edu	37	chr11	67176566	67176566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggagcccttcgagccatcCcccccgcgcagctgcaggag	6	5	13	17	3	0	0	0	0	0	0	2	3	1	2	5	2	4	3	5	2	0	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:67176566C>T	ENST00000312390.5	+	9	984	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	TBC1D10C_ENST00000542590.1_Missense_Mutation_p.P319S|TBC1D10C_ENST00000526387.1_Missense_Mutation_p.P254L	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	319						intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCGAGCCATCCCCCCCGCGCA	0.692													4	13					0	0	0	0	T	67176566	C	T	67176566	3	4	221	1	0	0	0	0	1	0	0	0	15691	623	22	4	985	4	TBC1D10C	11	67176566	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	850867	67176566	67829950	54	39588											
TRPC6	7225	broad.mit.edu	37	chr11	101323814	101323814	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atagcggagacttgagatgtCctgcttaatttccttcagtt	9	15	9	8	1	1	2	1	1	0	2	3	4	3	2	2	1	2	2	2	1	2	6			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:101323814C>G	ENST00000344327.3	-	13	3092	c.2668G>C	c.(2668-2670)Gac>Cac	p.D890H	TRPC6_ENST00000348423.4_Missense_Mutation_p.D774H|TRPC6_ENST00000532133.1_Missense_Mutation_p.D812H|TRPC6_ENST00000360497.4_Missense_Mutation_p.D835H	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	890					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTTGAGATGTCCTGCTTAATT	0.398													8	61					0	0	0	0	G	101323814	C	G	101323814	3	3	221	1	0	0	0	0	1	0	0	0	16678	855	30	2	131	2	TRPC6	11	101323814	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	34147248	101323814	33682702	55	39589											
GUCY1A2	2977	broad.mit.edu	37	chr11	106810420	106810420	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtggaaagggaaggctctAcagaaggtgttgatgctaat	14	9	14	4	0	1	2	0	1	1	1	1	4	1	4	0	4	2	3	0	4	6	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:106810420A>G	ENST00000526355.1	-	4	1440	c.972T>C	c.(970-972)tgT>tgC	p.C324C	GUCY1A2_ENST00000282249.2_Silent_p.C324C|GUCY1A2_ENST00000347596.2_Silent_p.C324C	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	324					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GGAAGGCTCTACAGAAGGTGT	0.458													9	25					0	0	0	0	G	106810420	A	G	106810420	2	3	221	1	0	0	0	0	0	0	0	1	6943	389	14	5		5	GUCY1A2	11	106810420	Silent	SNP	A	TCGA-CR-7401-01A-11D-2012-08	5486606	106810420	28196096	56	39590											
OPCML	4978	broad.mit.edu	37	chr11	132527154	132527154	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccacttgtcattcccagcGtagaggatggtgctgcggtt	7	11	13	10	2	1	1	1	0	0	1	2	3	2	2	2	3	3	3	2	3	1	4	rs142071206	byFrequency	TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:132527154G>A	ENST00000331898.7	-	2	806	c.228C>T	c.(226-228)taC>taT	p.Y76Y	OPCML_ENST00000374778.4_Silent_p.Y35Y|OPCML_ENST00000541867.1_Silent_p.Y76Y|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Silent_p.Y69Y	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	76	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CATTCCCAGCGTAGAGGATGG	0.542													12	71					0	0	0	0	A	132527154	G	A	132527154	2	1	221	1	0	0	0	0	0	0	0	1	10945	1140	40	1		1	OPCML	11	132527154	Silent	SNP	G	TCGA-CR-7401-01A-11D-2012-08	25716734	132527154	2479362	57	39591											
PLEKHA5	54477	broad.mit.edu	37	chr12	19413942	19413942	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctttctgacctttgcctCttttattatagaggtaagtt	7	19	8	7	0	2	2	0	1	2	1	2	2	2	2	2	1	2	3	2	1	4	8			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr12:19413942C>G	ENST00000538714.1	+	7	601	c.597C>G	c.(595-597)ctC>ctG	p.L199L	PLEKHA5_ENST00000355397.3_Silent_p.L199L|PLEKHA5_ENST00000424268.1_Silent_p.L91L|PLEKHA5_ENST00000317589.4_Silent_p.L199L|PLEKHA5_ENST00000539256.1_Intron|PLEKHA5_ENST00000543806.1_Silent_p.L91L|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000309364.4_Silent_p.L199L|PLEKHA5_ENST00000429027.2_Silent_p.L199L|PLEKHA5_ENST00000359180.3_Silent_p.L199L|PLEKHA5_ENST00000299275.6_Silent_p.L199L	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	199	PH.						1-phosphatidylinositol binding|protein binding	p.L199L(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ACCTTTGCCTCTTTTATTATA	0.303													21	123					0	0	0	0	G	19413942	C	G	19413942	2	3	221	1	0	0	0	0	0	0	0	1	12131	900	32	2		2	PLEKHA5	12	19413942	Silent	SNP	C	TCGA-CR-7401-01A-11D-2012-08		19413942	114437953	58	39592											
ADAMTS20	80070	broad.mit.edu	37	chr12	43944807	43944807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtccgagggccctgcgtCgctctcccaggccccgcgct	3	6	13	19	5	1	0	0	0	1	0	4	1	2	0	5	3	1	2	5	3	0	0			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr12:43944807C>T	ENST00000389420.3	-	2	357	c.358G>A	c.(358-360)Gac>Aac	p.D120N	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D120N	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	120						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGCCCTGCGTCGCTCTCCCAG	0.662													5	29					0	0	0	0	T	43944807	C	T	43944807	3	4	221	1	0	0	0	0	1	0	0	0	266	884	31	1	5525	1	ADAMTS20	12	43944807	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	24530865	43944807	89907088	59	39593											
MYBPC1	4604	broad.mit.edu	37	chr12	102028349	102028349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagaatctactgggactactCcaaacattgacatcagatct	15	10	6	10	0	3	3	1	1	2	2	4	4	4	4	1	1	3	0	1	1	5	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr12:102028349C>T	ENST00000549145.1	+	8	638	c.538C>T	c.(538-540)Cca>Tca	p.P180S	MYBPC1_ENST00000547405.1_Missense_Mutation_p.P141S|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P167S|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P155S|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P167S|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P167S|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P167S|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P154S|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P192S|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P192S|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P167S|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P68S|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P167S|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P167S|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P153S			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	167					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						TGGGACTACTCCAAACATTGA	0.358													4	46					0	0	0	0	T	102028349	C	T	102028349	3	4	221	1	0	0	0	0	1	0	0	0	10081	855	30	2	608	2	MYBPC1	12	102028349	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	58083542	102028349	31823546	60	39594											
ALKBH2	121642	broad.mit.edu	37	chr12	109530419	109530419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctcagcccgaatgtgcCgccagctagggcctgctgag	6	6	14	15	2	1	1	1	1	0	0	1	2	1	1	5	2	4	2	5	2	2	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr12:109530419C>T	ENST00000429722.2	-	2	536	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	ALKBH2_ENST00000343075.3_Missense_Mutation_p.R58Q|ALKBH2_ENST00000440112.2_Missense_Mutation_p.R58Q	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	58					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CCGAATGTGCCGCCAGCTAGG	0.547								Direct reversal of damage					22	132					0	0	0	0	T	109530419	C	T	109530419	3	4	221	1	0	0	0	0	1	0	0	0	527	652	23	1	624	1	ALKBH2	12	109530419	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	7502070	109530419	24321476	61	39595											
RIMBP2	23504	broad.mit.edu	37	chr12	130927037	130927037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgcatctatgtgggttGgggagtggaggtccaggatg	6	10	18	7	1	1	0	0	0	1	0	2	3	2	3	2	6	1	2	2	6	1	2			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr12:130927037G>A	ENST00000261655.4	-	8	972	c.809C>T	c.(808-810)cCa>cTa	p.P270L	RIMBP2_ENST00000535703.1_Missense_Mutation_p.P178L|RIMBP2_ENST00000536002.1_Missense_Mutation_p.P178L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	270						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TATGTGGGTTGGGGAGTGGAG	0.577													15	110					0	0	0	0	A	130927037	G	A	130927037	3	1	221	1	0	0	0	0	1	0	0	0	13446	1348	47	4	2397	4	RIMBP2	12	130927037	Missense_Mutation	SNP	G	TCGA-CR-7401-01A-11D-2012-08	21396618	130927037	2924858	62	39596											
ZNF10	7556	broad.mit.edu	37	chr12	133732617	133732617	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaagggcatacatagagAgaaaccctatgaatgtaagg	18	7	10	6	0	1	3	1	1	0	2	1	4	1	3	1	2	2	2	1	2	7	4			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr12:133732617A>T	ENST00000248211.6	+	5	1007	c.785A>T	c.(784-786)gAg>gTg	p.E262V	ZNF10_ENST00000402932.2_Intron|ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.E262V	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	262				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ATACATAGAGAGAAACCCTAT	0.398													5	49					0	0	0	0	T	133732617	A	T	133732617	3	4	221	1	0	0	0	0	1	0	0	0	17807	304	11	5	799	5	ZNF10	12	133732617	Missense_Mutation	SNP	A	TCGA-CR-7401-01A-11D-2012-08	2805580	133732617	119278	63	39597											
POMP	51371	broad.mit.edu	37	chr13	29252224	29252224	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacttgatggtggaatataaActtggtttactgtaatagtg	12	15	10	4	0	0	1	0	1	0	0	0	2	0	2	0	3	2	2	0	3	7	8			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr13:29252224A>G	ENST00000380842.4	+	6	492	c.411A>G	c.(409-411)aaA>aaG	p.K137K	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	137					proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TGGAATATAAACTTGGTTTAC	0.358													11	40					0	0	0	0	G	29252224	A	G	29252224	2	3	221	1	0	0	0	0	0	0	0	1	12316	40	2	5		5	POMP	13	29252224	Silent	SNP	A	TCGA-CR-7401-01A-11D-2012-08		29252224	85917654	64	39598											
TRPC4	7223	broad.mit.edu	37	chr13	38211559	38211559	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcaattgctgctgatctCggatgaatcagggtggttaa	10	11	14	6	1	2	2	1	2	1	0	3	4	2	3	0	4	2	4	0	4	3	2			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr13:38211559C>T	ENST00000379705.3	-	11	3272	c.2415G>A	c.(2413-2415)ccG>ccA	p.P805P	TRPC4_ENST00000338947.5_Silent_p.P632P|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379679.1_Silent_p.P632P|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379681.3_Silent_p.P810P|TRPC4_ENST00000379673.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	805	Binds to ITPR1, ITPR2 and ITPR3.				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)		CTGCTGATCTCGGATGAATCA	0.443													10	79					0	0	0	0	T	38211559	C	T	38211559	2	4	221	1	0	0	0	0	0	0	0	1	16675	871	31	1		1	TRPC4	13	38211559	Silent	SNP	C	TCGA-CR-7401-01A-11D-2012-08	8959335	38211559	76958319	65	39599											
IRF9	10379	broad.mit.edu	37	chr14	24629560	24629560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcgctacctgcacgtaCgcccccagcctttggctgga	6	8	11	16	3	0	1	0	1	0	0	0	2	0	2	4	2	5	4	4	2	2	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr14:24629560C>T	ENST00000558468.1	+	12	1534	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C	RNF31_ENST00000324103.6_Missense_Mutation_p.R1037C|RNF31_ENST00000382687.3_Missense_Mutation_p.R886C|RNF31_ENST00000559275.1_Missense_Mutation_p.R886C																							CCTGCACGTACGCCCCCAGCC	0.582											OREG0022619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	111					0	0	0	0	T	24629560	C	T	24629560	3	4	221	1	0	0	0	0	1	0	0	0	7890	536	19	1		1	IRF9	14	24629560	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08		24629560	82719980	66	39600											
MDGA2	161357	broad.mit.edu	37	chr14	47351384	47351384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcccttttgaatattcccaTttattttaatctcctgctcc	7	19	2	13	0	1	1	0	1	1	0	5	1	4	1	4	0	1	1	4	0	4	8			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr14:47351384T>C	ENST00000426342.1	-	11	2131	c.1385A>G	c.(1384-1386)aAt>aGt	p.N462S	MDGA2_ENST00000357362.3_Missense_Mutation_p.N462S|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000399232.2_Missense_Mutation_p.N760S|MDGA2_ENST00000439988.2_Missense_Mutation_p.N691S	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	691	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AATATTCCCATTTATTTTAAT	0.373													3	23					0	0	0	0	C	47351384	T	C	47351384	3	2	221	1	0	0	0	0	1	0	0	0	9476	1493	52	5	826	5	MDGA2	14	47351384	Missense_Mutation	SNP	T	TCGA-CR-7401-01A-11D-2012-08	22721824	47351384	59998156	67	39601											
NID2	22795	broad.mit.edu	37	chr14	52481904	52481904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcatcgcactggggcaCgtactggtcatcccgggggg	6	7	16	12	3	2	0	2	0	0	0	4	0	3	0	1	7	1	3	1	7	1	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr14:52481904C>T	ENST00000216286.5	-	15	3117	c.3118G>A	c.(3118-3120)Gtg>Atg	p.V1040M	NID2_ENST00000541773.1_Missense_Mutation_p.V939M	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1040	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CACTGGGGCACGTACTGGTCA	0.632													17	81					0	0	0	0	T	52481904	C	T	52481904	3	4	221	1	0	0	0	0	1	0	0	0	10485	536	19	1	1041	1	NID2	14	52481904	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	5130520	52481904	54867636	68	39602											
RPS6KL1	83694	broad.mit.edu	37	chr14	75376271	75376271	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtccaggagcaggttcccGgggtggaggtcccggcacag	6	6	18	11	2	0	0	0	0	0	0	3	2	3	2	3	8	1	3	3	8	0	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr14:75376271G>A	ENST00000555647.1	-	8	1532	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	RPS6KL1_ENST00000557413.1_Silent_p.P415P|RPS6KL1_ENST00000354625.2_Silent_p.P384P|RPS6KL1_ENST00000358328.4_Silent_p.P415P			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	415	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GCAGGTTCCCGGGGTGGAGGT	0.672													12	45					0	0	0	0	A	75376271	G	A	75376271	2	1	221	1	0	0	0	0	0	0	0	1	13744	1103	39	1		1	RPS6KL1	14	75376271	Silent	SNP	G	TCGA-CR-7401-01A-11D-2012-08	22894367	75376271	31973269	69	39603											
ADAMTS7	11173	broad.mit.edu	37	chr15	79054873	79054873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgacacacttgaccaggCgccgctggacaccaccacca	10	6	9	16	2	0	2	0	2	0	0	0	3	0	3	5	2	0	2	5	2	0	2			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr15:79054873C>T	ENST00000388820.4	-	23	4985	c.4775G>A	c.(4774-4776)cGc>cAc	p.R1592H		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1592	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTTGACCAGGCGCCGCTGGAC	0.677													3	12					0	0	0	0	T	79054873	C	T	79054873	3	4	221	1	0	0	0	0	1	0	0	0	271	768	27	1	293	1	ADAMTS7	15	79054873	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08		79054873	23476519	70	39604											
PEX11A	8800	broad.mit.edu	37	chr15	90226612	90226612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagcctaaaaacaccctaaCgggtcttcagcttcatctga	13	9	6	13	1	4	1	2	1	2	0	4	1	4	1	2	1	4	1	2	1	5	4			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr15:90226612C>T	ENST00000300056.3	-	3	889	c.740G>A	c.(739-741)cGt>cAt	p.R247H	PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.R216H|PEX11A_ENST00000557982.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	247					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	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)			AACACCCTAACGGGTCTTCAG	0.443													62	207					0	0	0	0	T	90226612	C	T	90226612	3	4	221	1	0	0	0	0	1	0	0	0	11809	536	19	1	7	1	PEX11A	15	90226612	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	11171739	90226612	12304780	71	39605											
MVP	9961	broad.mit.edu	37	chr16	29848052	29848052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctctgcagacagccctgCacctccgggctcggcggaac	6	7	12	16	3	1	1	0	0	1	1	3	2	2	2	3	3	5	4	3	3	1	1	rs150165807		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr16:29848052C>T	ENST00000357402.5	+	7	820	c.682C>T	c.(682-684)Cac>Tac	p.H228Y	MVP_ENST00000452209.2_Missense_Mutation_p.A42V|MVP_ENST00000395353.1_Missense_Mutation_p.H228Y	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	228					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GACAGCCCTGCACCTCCGGGC	0.622													4	46					0	0	0	0	T	29848052	C	T	29848052	3	4	221	1	0	0	0	0	1	0	0	0	10066	710	25	4	704	4	MVP	16	29848052	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08		29848052	60506701	72	39606											
SRCAP	10847	broad.mit.edu	37	chr16	30750152	30750152	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagacccaatcccctcCtgtcacctgtggagaaaaga	12	8	7	14	0	2	3	2	0	0	3	4	4	4	3	5	1	0	0	5	1	3	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr16:30750152C>T	ENST00000262518.4	+	34	9176	c.8791C>T	c.(8791-8793)Ctg>Ttg	p.L2931L	SRCAP_ENST00000344771.4_Silent_p.L2773L|SRCAP_ENST00000395059.2_Silent_p.L2869L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2931	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAATCCCCTCCTGTCACCTGT	0.572													12	79					0	0	0	0	T	30750152	C	T	30750152	2	4	221	1	0	0	0	0	0	0	0	1	15225	680	24	4		4	SRCAP	16	30750152	Silent	SNP	C	TCGA-CR-7401-01A-11D-2012-08	902100	30750152	59604601	73	39607											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67472541	67472543	+	In_Frame_Del	DEL	AGA	AGA	-																															cttgagcttcacgaaggcatAgaagacaccaaagtggaact																										TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr16:67472541_67472543delAGA	ENST00000290949.3	-	8	1094_1096	c.944_946delTCT	c.(943-948)tat>t	p.FY315del	ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_In_Frame_Del_p.FY356del|ATP6V0D1_ENST00000602876.1_In_Frame_Del_p.FY238del	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	315					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		ACGAAGGCATAGAAGACACCAAA	0.552													13	105	---	---	---	---					-	67472543	AGA	-	67472541	7	5	221	1	0	1	0	1	0	0	0	0	1177	420	15	0	113	0	ATP6V0D1	16	67472541	In_Frame_Del	DEL	AGA	TCGA-CR-7401-01A-11D-2012-08	36722389	67472541	22882212	74	39608											
ACD	65057	broad.mit.edu	37	chr16	67693460	67693460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaccaggcacccgtagccgGggctgctccgtgggcagcag	7	4	15	15	3	0	0	0	0	0	0	1	0	1	0	4	4	4	6	4	4	2	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr16:67693460G>A	ENST00000219251.8	-	4	973	c.642C>T	c.(640-642)ccC>ccT	p.P214P	ACD_ENST00000393919.4_Silent_p.P217P	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	217					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCCGTAGCCGGGGCTGCTCCG	0.677													4	48					0	0	0	0	A	67693460	G	A	67693460	2	1	221	1	0	0	0	0	0	0	0	1	135	1219	43	4		4	ACD	16	67693460	Silent	SNP	G	TCGA-CR-7401-01A-11D-2012-08	220919	67693460	22661293	75	39609											
NLRP1	22861	broad.mit.edu	37	chr17	5486116	5486116	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtggaggtgggttggctggGagaccccaggtggggttcac	5	8	21	7	0	1	1	1	0	0	1	1	3	1	2	2	9	0	3	2	9	0	2	rs141118572		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr17:5486116G>C	ENST00000345221.3	-	2	876	c.322C>G	c.(322-324)Ccc>Gcc	p.P108A	NLRP1_ENST00000572272.1_Missense_Mutation_p.P108A|NLRP1_ENST00000577119.1_Missense_Mutation_p.P108A|NLRP1_ENST00000354411.3_Missense_Mutation_p.P108A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.P108A|NLRP1_ENST00000269280.4_Missense_Mutation_p.P108A	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	108					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGTTGGCTGGGAGACCCCAGG	0.602													9	37					0	0	0	0	C	5486116	G	C	5486116	3	2	221	1	0	0	0	0	1	0	0	0	10541	1174	41	2	4238	2	NLRP1	17	5486116	Missense_Mutation	SNP	G	TCGA-CR-7401-01A-11D-2012-08		5486116	75709094	76	39610											
TP53	7157	broad.mit.edu	37	chr17	7578177	7578177	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagttgcaaaccagacCtcaggcggctcatagggcac	11	5	10	15	1	2	1	2	0	0	1	2	1	2	1	4	3	2	4	4	3	2	2			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr17:7578177C>T	ENST00000420246.2	-	6	804	c.672_splice	c.e6+1	p.E224_splice	TP53_ENST00000445888.2_Splice_Site_p.E224_splice|TP53_ENST00000413465.2_Splice_Site_p.E224_splice|TP53_ENST00000359597.4_Splice_Site_p.E224_splice|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site_p.E224_splice|TP53_ENST00000269305.4_Splice_Site_p.E224_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	224	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAACCAGACCTCAGGCGGCT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	24					0	0	0	0	T	7578177	C	T	7578177	5	4	221	1	0	0	0	0	0	0	1	0	16476	695	24	4	622	4	TP53	17	7578177	Splice_Site	SNP	C	TCGA-CR-7401-01A-11D-2012-08	2092061	7578177	73617033	77	39611											
CNTROB	116840	broad.mit.edu	37	chr17	7842957	7842957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgagagttggagactcttCgggctgccctagaagaagaa	12	8	13	8	2	1	5	0	0	1	5	3	7	1	5	1	2	1	2	1	2	4	3	rs141146363		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr17:7842957C>T	ENST00000380262.3	+	8	1979	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	CNTROB_ENST00000565740.1_Missense_Mutation_p.R352W|CNTROB_ENST00000563694.1_Missense_Mutation_p.R352W|CNTROB_ENST00000380255.3_Missense_Mutation_p.R352W	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	352					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGAGACTCTTCGGGCTGCCCT	0.612													18	62					0	0	0	0	T	7842957	C	T	7842957	3	4	221	1	0	0	0	0	1	0	0	0	3681	875	31	1	1084	1	CNTROB	17	7842957	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	264780	7842957	73352253	78	39612											
ACACA	31	broad.mit.edu	37	chr17	35591984	35591984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcacttttattctcttctCggagggcgaatacacatttg	8	16	8	9	2	3	0	1	0	2	0	5	2	3	1	0	2	1	0	0	2	3	6			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr17:35591984C>T	ENST00000353139.5	-	25	3633	c.3152G>A	c.(3151-3153)cGa>cAa	p.R1051Q	ACACA_ENST00000394406.2_Missense_Mutation_p.R1014Q|ACACA_ENST00000360679.3_Missense_Mutation_p.R956Q|ACACA_ENST00000335166.5_Missense_Mutation_p.R936Q	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1014					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATTCTCTTCTCGGAGGGCGAA	0.393													11	49					0	0	0	0	T	35591984	C	T	35591984	3	4	221	1	0	0	0	0	1	0	0	0	106	884	31	1	4127	1	ACACA	17	35591984	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	27749027	35591984	45603226	79	39613											
KRT38	8687	broad.mit.edu	37	chr17	39594347	39594347	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagatcacacgtacttGcagtcctcgctttccagaag	9	10	8	14	2	1	2	1	0	0	2	4	2	3	2	3	0	3	3	3	0	2	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr17:39594347G>T	ENST00000246646.3	-	6	1238	c.1239C>A	c.(1237-1239)tgC>tgA	p.C413*		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	413	Tail.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				ACACGTACTTGCAGTCCTCGC	0.527													8	54					0.000157383	0.000169584	1	0	T	39594347	G	T	39594347	4	4	221	1	0	0	0	0	0	1	0	0	8527	1311	46	4	139	4	KRT38	17	39594347	Nonsense_Mutation	SNP	G	TCGA-CR-7401-01A-11D-2012-08	4002363	39594347	41600863	80	39614											
NAGS	162417	broad.mit.edu	37	chr17	42083545	42083545	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcgctggccaaggcgctGcggcccaccaaaatcatctt	8	7	11	15	4	2	0	1	0	1	0	3	0	2	0	3	3	1	2	3	3	3	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr17:42083545G>A	ENST00000293404.3	+	3	973	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	285					arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	CCAAGGCGCTGCGGCCCACCA	0.667													11	38					0	0	0	0	A	42083545	G	A	42083545	2	1	221	1	0	0	0	0	0	0	0	1	10215	1306	46	4		4	NAGS	17	42083545	Silent	SNP	G	TCGA-CR-7401-01A-11D-2012-08	2489198	42083545	39111665	81	39615											
METTL2A	339175	broad.mit.edu	37	chr17	60501347	60501347	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccggttcctgagagatccGgcgcgcgtcttccaccacaa	8	7	11	15	5	1	2	0	1	1	1	4	3	4	2	5	2	1	1	5	2	1	2			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr17:60501347G>T	ENST00000311506.5	+	1	120	c.84G>T	c.(82-84)ccG>ccT	p.P28P		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	28							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TGAGAGATCCGGCGCGCGTCT	0.647											OREG0024635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	45					0.000157383	0.000169584	1	0	T	60501347	G	T	60501347	2	4	221	1	0	0	0	0	0	0	0	1	9568	1103	39	3		3	METTL2A	17	60501347	Silent	SNP	G	TCGA-CR-7401-01A-11D-2012-08	18417802	60501347	20693863	82	39616											
LAMA3	3909	broad.mit.edu	37	chr18	21330961	21330961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagggagtttaccaaggCaacaaacatccgcttgcgtt	11	9	10	11	2	0	1	0	1	0	0	1	2	1	2	3	2	4	4	3	2	4	4			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr18:21330961C>T	ENST00000313654.9	+	5	1005	c.764C>T	c.(763-765)gCa>gTa	p.A255V	LAMA3_ENST00000399516.3_Missense_Mutation_p.A255V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	255	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTACCAAGGCAACAAACATC	0.473													33	85					0	0	0	0	T	21330961	C	T	21330961	3	4	221	1	0	0	0	0	1	0	0	0	8660	710	25	4	782	4	LAMA3	18	21330961	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08		21330961	56746287	83	39617											
ASXL3	80816	broad.mit.edu	37	chr18	31319491	31319491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atctgaagcatcaccagtatCcaacttacctttaacatcag	14	11	4	12	0	3	1	2	1	1	0	4	1	4	1	3	0	4	2	3	0	5	4			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr18:31319491C>G	ENST00000269197.5	+	11	2123	c.2123C>G	c.(2122-2124)tCc>tGc	p.S708C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	708	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCACCAGTATCCAACTTACCT	0.393													37	204					0	0	0	0	G	31319491	C	G	31319491	3	3	221	1	0	0	0	0	1	0	0	0	1072	855	30	2	2165	2	ASXL3	18	31319491	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	9988530	31319491	46757757	84	39618											
WDR7	23335	broad.mit.edu	37	chr18	54591315	54591315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggcttctcgaactttgtgCcgatgccgagaaacaacttg	9	10	12	10	3	1	1	0	0	1	1	2	4	1	1	2	2	5	1	2	2	3	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr18:54591315C>T	ENST00000254442.3	+	22	3900	c.3689C>T	c.(3688-3690)gCc>gTc	p.A1230V	WDR7_ENST00000357574.3_Missense_Mutation_p.A1197V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1230										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GAACTTTGTGCCGATGCCGAG	0.438													4	135					0	0	0	0	T	54591315	C	T	54591315	3	4	221	1	0	0	0	0	1	0	0	0	17416	739	26	4	3771	4	WDR7	18	54591315	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	23271824	54591315	23485933	85	39619											
MUC16	94025	broad.mit.edu	37	chr19	9066782	9066782	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggtttccacattagtCgctgctgtgcttgtggaagg	5	14	14	8	1	0	0	0	0	0	0	2	1	1	1	1	4	2	4	1	4	2	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:9066782C>A	ENST00000397910.4	-	3	20867	c.20664G>T	c.(20662-20664)gcG>gcT	p.A6888A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6890	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						CCACATTAGTCGCTGCTGTGC	0.483													37	177					6.53348e-20	7.44388e-20	1	0	A	9066782	C	A	9066782	2	1	221	1	0	0	0	0	0	0	0	1	10043	871	31	3		3	MUC16	19	9066782	Silent	SNP	C	TCGA-CR-7401-01A-11D-2012-08		9066782	50062201	86	39620											
TSHZ3	57616	broad.mit.edu	37	chr19	31769049	31769049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaagttggtaggcggcatgGatgctgggatagccccccca	8	7	16	10	1	0	0	0	0	0	0	0	3	0	3	3	6	2	4	3	6	3	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:31769049G>A	ENST00000240587.4	-	2	1977	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	550					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGCGGCATGGATGCTGGGAT	0.552													12	130					0	0	0	0	A	31769049	G	A	31769049	2	1	221	1	0	0	0	0	0	0	0	1	16720	1164	41	2		2	TSHZ3	19	31769049	Silent	SNP	G	TCGA-CR-7401-01A-11D-2012-08	22702267	31769049	27359934	87	39621											
TMEM145	284339	broad.mit.edu	37	chr19	42818774	42818774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccttccccaggactgcctgGccaaggagtcagtgatccgg	7	7	13	14	1	1	1	1	1	0	0	3	3	3	3	6	4	1	0	6	4	1	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:42818774G>A	ENST00000598766.1	+	4	313	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	TMEM145_ENST00000601020.1_3'UTR|TMEM145_ENST00000301204.3_Missense_Mutation_p.A95T			Q8NBT3	TM145_HUMAN	transmembrane protein 145	95						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GGACTGCCTGGCCAAGGAGTC	0.642													14	131					0	0	0	0	A	42818774	G	A	42818774	3	1	221	1	0	0	0	0	1	0	0	0	16153	1203	42	4	297	4	TMEM145	19	42818774	Missense_Mutation	SNP	G	TCGA-CR-7401-01A-11D-2012-08	11049725	42818774	16310209	88	39622											
C5AR1	728	broad.mit.edu	37	chr19	47823557	47823557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataccctccttcctgtacCgggtggtccgggaggagtac	6	9	12	14	2	0	0	0	0	0	0	3	2	3	2	6	4	3	2	6	4	3	4	rs141160351		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:47823557C>T	ENST00000355085.3	+	2	545	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	175					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CTTCCTGTACCGGGTGGTCCG	0.632													29	133					0	0	0	0	T	47823557	C	T	47823557	3	4	221	1	0	0	0	0	1	0	0	0	2302	643	23	1	528	1	C5AR1	19	47823557	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	5004783	47823557	11305426	89	39623											
ZNF649	65251	broad.mit.edu	37	chr19	52394087	52394087	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagtaagctttctcacaCtcatcacagccatagggtct	12	11	7	11	0	4	1	3	0	2	1	5	1	4	1	1	1	2	2	1	1	4	4			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:52394087C>A	ENST00000354957.3	-	5	1586	c.1302G>T	c.(1300-1302)gaG>gaT	p.E434D	ZNF649_ENST00000600738.1_Missense_Mutation_p.E406D|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTTCTCACACTCATCACAGC	0.438													27	145					3.01185e-09	3.34918e-09	1	0	A	52394087	C	A	52394087	3	1	221	1	0	0	0	0	1	0	0	0	18159	564	20	4	219	4	ZNF649	19	52394087	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	4570530	52394087	6734896	90	39624											
ZNF761	388561	broad.mit.edu	37	chr19	53958193	53958193	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagcttggatcaagcttTcattcgcatctgcctgaaat	10	13	8	10	1	4	1	3	1	1	0	5	3	4	2	1	1	3	3	1	1	2	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:53958193T>C	ENST00000454407.1	+	0	885							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GATCAAGCTTTCATTCGCATC	0.393													17	108					0	0	0	0	C	53958193	T	C	53958193	1	2	221	0	1	0	0	0	0	0	0	0	18230	1780	62	5		5	ZNF761	19	53958193	RNA	SNP	T	TCGA-CR-7401-01A-11D-2012-08	1564106	53958193	5170790	91	39625											
LILRA4	23547	broad.mit.edu	37	chr19	54848799	54848799	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaagttggcctgggagAgcccagcctggggctgccgg	5	6	20	10	1	0	2	0	1	0	1	0	3	0	2	4	6	3	2	4	6	1	1			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:54848799A>G	ENST00000291759.4	-	5	880	c.824T>C	c.(823-825)cTc>cCc	p.L275P		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	275	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGCCTGGGAGAGCCCAGCCTG	0.667													3	57					0	0	0	0	G	54848799	A	G	54848799	3	3	221	1	0	0	0	0	1	0	0	0	8841	304	11	5	691	5	LILRA4	19	54848799	Missense_Mutation	SNP	A	TCGA-CR-7401-01A-11D-2012-08	890606	54848799	4280184	92	39626											
KIR3DL2	3812	broad.mit.edu	37	chr19	55378185	55378185	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtcttgagggggttttctAgggagacaacagccctgtct	8	11	14	8	0	3	2	0	1	3	1	3	3	3	2	1	4	2	1	1	4	2	4			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:55378185A>G	ENST00000326321.3	+	9	1400	c.1367A>G	c.(1366-1368)tAg>tGg	p.*456W	KIR3DL1_ENST00000402254.2_Nonstop_Mutation_p.*456W|KIR3DL2_ENST00000270442.5_Nonstop_Mutation_p.*439W	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	0					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGGGTTTTCTAGGGAGACAAC	0.527													3	180					0	0	0	0	G	55378185	A	G	55378185	4	3	221	1	0	0	0	0	0	0	0	0	8373	433	15	5	1401	5	KIR3DL2	19	55378185	Nonstop_Mutation	SNP	A	TCGA-CR-7401-01A-11D-2012-08	529386	55378185	3750798	93	39627											
ZNF471	57573	broad.mit.edu	37	chr19	57037304	57037304	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcatcaaagaagtcatactgGagaagaaccttaagaatgta	18	9	8	6	0	3	4	3	0	0	4	3	5	3	4	1	1	2	1	1	1	8	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:57037304G>C	ENST00000308031.5	+	5	2001	c.1868G>C	c.(1867-1869)gGa>gCa	p.G623A	ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGTCATACTGGAGAAGAACCT	0.403													9	45					0	0	0	0	C	57037304	G	C	57037304	3	2	221	1	0	0	0	0	1	0	0	0	18025	1174	41	2	1882	2	ZNF471	19	57037304	Missense_Mutation	SNP	G	TCGA-CR-7401-01A-11D-2012-08	1659119	57037304	2091679	94	39628											
ZNF548	147694	broad.mit.edu	37	chr19	57911175	57911175	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgaagagaggcttgtgtgctCcatgaatgtggggaattctt	9	13	14	5	0	1	3	0	2	1	1	2	5	2	4	1	3	1	2	1	3	3	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:57911175C>G	ENST00000366197.5	+	3	1770	c.1520C>G	c.(1519-1521)tCc>tGc	p.S507C	AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.S519C	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		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;0.026)		CTTGTGTGCTCCATGAATGTG	0.408													9	44					0	0	0	0	G	57911175	C	G	57911175	3	3	221	1	0	0	0	0	1	0	0	0	18075	855	30	2	1570	2	ZNF548	19	57911175	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	873871	57911175	1217808	95	39629											
PREX1	57580	broad.mit.edu	37	chr20	47296246	47296246	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taggtgccatcgtcgtagcgGaagcgatacatcacctgctc	9	9	11	12	4	1	0	1	0	0	0	4	2	1	1	2	2	5	2	2	2	4	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr20:47296246G>A	ENST00000396220.1	-	12	1504	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	PREX1_ENST00000371941.3_Silent_p.F494F			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	494	DEP 1.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CGTCGTAGCGGAAGCGATACA	0.612													16	95					0	0	0	0	A	47296246	G	A	47296246	2	1	221	1	0	0	0	0	0	0	0	1	12556	1165	41	2		2	PREX1	20	47296246	Silent	SNP	G	TCGA-CR-7401-01A-11D-2012-08		47296246	15729274	96	39630											
PTGIS	5740	broad.mit.edu	37	chr20	48130868	48130868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctctccgcggacagcaGccagggcttcaggattcttg	7	8	13	13	3	3	0	1	0	2	0	4	3	3	2	2	3	3	3	2	3	0	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr20:48130868G>A	ENST00000244043.4	-	7	949	c.920C>T	c.(919-921)gCt>gTt	p.A307V	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	307					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GCGGACAGCAGCCAGGGCTTC	0.577													8	57					0	0	0	0	A	48130868	G	A	48130868	3	1	221	1	0	0	0	0	1	0	0	0	12832	971	34	4	598	4	PTGIS	20	48130868	Missense_Mutation	SNP	G	TCGA-CR-7401-01A-11D-2012-08	834622	48130868	14894652	97	39631											
PRDM15	63977	broad.mit.edu	37	chr21	43287419	43287419	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagccctgacctcctccgttCgcaatcttccccagggctgg	5	10	9	17	2	1	1	0	1	1	0	5	1	4	1	6	2	1	3	6	2	2	3	rs137957423		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr21:43287419C>T	ENST00000269844.3	-	5	719	c.609G>A	c.(607-609)gcG>gcA	p.A203A	PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTCCTCCGTTCGCAATCTTCC	0.532													20	119					0	0	0	0	T	43287419	C	T	43287419	2	4	221	1	0	0	0	0	0	0	0	1	12536	871	31	1		1	PRDM15	21	43287419	Silent	SNP	C	TCGA-CR-7401-01A-11D-2012-08		43287419	4842476	98	39632											
PLA2G3	50487	broad.mit.edu	37	chr22	31535944	31535944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactccactctgccctgctgCtcgcttcttcctggcccctg	2	12	8	19	1	2	0	0	0	2	0	5	1	4	0	5	1	3	3	5	1	0	2			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr22:31535944C>T	ENST00000215885.3	-	1	649	c.397G>A	c.(397-399)Gca>Aca	p.A133T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	133					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGCCCTGCTGCTCGCTTCTTC	0.632													6	77					0	0	0	0	T	31535944	C	T	31535944	3	4	221	1	0	0	0	0	1	0	0	0	12072	797	28	4	1160	4	PLA2G3	22	31535944	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08		31535944	19768622	99	39633											
MKL1	57591	broad.mit.edu	37	chr22	40825661	40825661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaaggatgttcttctccaCcagctccatggggccaggcc	8	8	12	13	0	2	0	0	0	2	0	4	2	3	2	5	5	1	2	5	5	1	2			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr22:40825661C>T	ENST00000396617.3	-	7	840	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	MKL1_ENST00000402042.1_Missense_Mutation_p.V84M|MKL1_ENST00000402630.1_Missense_Mutation_p.V84M|MKL1_ENST00000355630.3_Missense_Mutation_p.V84M|MKL1_ENST00000407029.1_Missense_Mutation_p.V84M			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	84	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						TTCTTCTCCACCAGCTCCATG	0.572			T	RBM15	acute megakaryocytic leukemia								6	68					0	0	0	0	T	40825661	C	T	40825661	3	4	221	1	0	0	0	0	1	0	0	0	9670	507	18	4	2581	4	MKL1	22	40825661	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	9289717	40825661	10478905	100	39634											
SMC1B	27127	broad.mit.edu	37	chr22	45782901	45782901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttacagcctttaagctccCttagtctttcattgattggc	7	18	6	10	0	2	1	1	1	1	0	3	1	3	1	2	1	3	1	2	1	3	8			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr22:45782901C>T	ENST00000357450.4	-	11	1756	c.1757G>A	c.(1756-1758)aGg>aAg	p.R586K	SMC1B_ENST00000404354.3_Missense_Mutation_p.R586K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	586	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTTAAGCTCCCTTAGTCTTTC	0.328													34	93					0	0	0	0	T	45782901	C	T	45782901	3	4	221	1	0	0	0	0	1	0	0	0	14870	681	24	4	2010	4	SMC1B	22	45782901	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	4957240	45782901	5521665	101	39635											
KLHL15	80311	broad.mit.edu	37	chrX	24024381	24024381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccctcgatgtttacgcCgaaatcatctaagagtctca	11	11	7	12	3	3	1	2	0	2	1	6	4	4	1	2	0	1	1	2	0	3	3			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chrX:24024381C>T	ENST00000328046.8	-	3	685	c.430G>A	c.(430-432)Ggc>Agc	p.G144S		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	144	BACK.									autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						ATGTTTACGCCGAAATCATCT	0.428													13	18					0	0	0	0	T	24024381	C	T	24024381	3	4	221	1	0	0	0	0	1	0	0	0	8423	652	23	1	1392	1	KLHL15	23	24024381	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08		24024381	131246179	102	39636											
MAGED1	9500	broad.mit.edu	37	chrX	51640125	51640125	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaactcgcgtgcctcacaGaacccaggtgctgcacagcc	9	5	9	18	2	1	1	1	0	0	1	2	1	1	1	4	1	6	2	4	1	2	0			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chrX:51640125G>A	ENST00000375695.2	+	5	1695	c.1542G>A	c.(1540-1542)caG>caA	p.Q514Q	MAGED1_ENST00000326587.7_Silent_p.Q458Q|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Silent_p.Q458Q|MAGED1_ENST00000375772.3_Silent_p.Q458Q	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	458	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GTGCCTCACAGAACCCAGGTG	0.577										Multiple Myeloma(10;0.10)			4	19					0	0	0	0	A	51640125	G	A	51640125	2	1	221	1	0	0	0	0	0	0	0	1	9252	933	33	2		2	MAGED1	23	51640125	Silent	SNP	G	TCGA-CR-7401-01A-11D-2012-08	27615744	51640125	103630435	103	39637											
MTMR8	55613	broad.mit.edu	37	chrX	63579362	63579362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagataaagaatcccattagCtggtttcttactcacataac	15	12	5	9	0	2	2	1	0	1	2	3	2	3	2	1	1	3	2	1	1	7	5			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chrX:63579362C>T	ENST00000374852.3	-	2	137	c.70G>A	c.(70-72)Gct>Act	p.A24T	MTMR8_ENST00000453546.1_Missense_Mutation_p.A24T	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	24						nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ATCCCATTAGCTGGTTTCTTA	0.408													14	18					0	0	0	0	T	63579362	C	T	63579362	3	4	221	1	0	0	0	0	1	0	0	0	10019	797	28	4	2096	4	MTMR8	23	63579362	Missense_Mutation	SNP	C	TCGA-CR-7401-01A-11D-2012-08	11939237	63579362	91691198	104	39638											
PRDM16	63976	broad.mit.edu	37	chr1	3319429	3319429	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgcggcgccataagaagTacacgtgtggctcagtgggg	9	7	15	10	3	1	1	1	0	0	1	1	1	1	1	2	4	2	2	2	4	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:3319429T>G	ENST00000378398.3	+	7	836	c.754T>G	c.(754-756)Tac>Gac	p.Y252D	PRDM16_ENST00000378391.2_Missense_Mutation_p.Y251D|PRDM16_ENST00000442529.2_Missense_Mutation_p.Y251D|PRDM16_ENST00000441472.2_Missense_Mutation_p.Y251D|PRDM16_ENST00000514189.1_Missense_Mutation_p.Y252D|PRDM16_ENST00000511072.1_Missense_Mutation_p.Y252D|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.Y251D			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	251					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCATAAGAAGTACACGTGTGG	0.637			T	EVI1	"MDS, AML"								49	33					0	0	0	0	G	3319429	T	G	3319429	3	3	222	1	0	0	0	0	1	0	0	0	12537	1638	57	5	773	5	PRDM16	1	3319429	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08		3319429	245931192	1	39639											
CCDC27	148870	broad.mit.edu	37	chr1	3679735	3679735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctgggaggtggcgaggagGacgagggcctggaaggggag	9	3	23	6	2	0	0	0	0	0	0	0	7	0	5	2	9	0	0	2	9	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:3679735G>T	ENST00000294600.2	+	7	1102	c.1018G>T	c.(1018-1020)Gac>Tac	p.D340Y		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	340	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGGCGAGGAGGACGAGGGCCT	0.682													3	0					0.004672	0.00735247	1	0	T	3679735	G	T	3679735	3	4	222	1	0	0	0	0	1	0	0	0	2827	1174	41	2	1044	2	CCDC27	1	3679735	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	360306	3679735	245570886	2	39640											
MASP2	10747	broad.mit.edu	37	chr1	11090242	11090242	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatccattaccaggctcacAgactgggagtgatttttctc	9	13	9	10	0	2	2	1	1	1	1	4	3	3	3	2	2	1	2	2	2	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:11090242A>T	ENST00000400897.3	-	10	1303	c.1288T>A	c.(1288-1290)Tgt>Agt	p.C430S	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	430	Sushi 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CCAGGCTCACAGACTGGGAGT	0.438													45	33					0	0	0	0	T	11090242	A	T	11090242	3	4	222	1	0	0	0	0	1	0	0	0	9392	188	7	5	780	5	MASP2	1	11090242	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	7410507	11090242	238160379	3	39641											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12908094	12908094	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagattcccaatgaacacacGggagttcatggagtgaggat	13	8	13	7	1	1	3	1	2	0	1	2	7	2	6	1	3	1	1	1	3	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:12908094G>C	ENST00000317869.6	-	2	274	c.49C>G	c.(49-51)Cgt>Ggt	p.R17G		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ATGAACACACGGGAGTTCATG	0.463													33	111					0	0	0	0	C	12908094	G	C	12908094	3	2	222	1	0	0	0	0	1	0	0	0	7313	1116	39	3	834	3	HNRNPCL1	1	12908094	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1817852	12908094	236342527	4	39642											
TAS1R2	80834	broad.mit.edu	37	chr1	19168324	19168324	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgccctgactggcacctcTtggaacacatggacataggg	9	10	11	11	0	1	1	0	1	1	0	1	3	1	3	2	4	2	1	2	4	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:19168324T>A	ENST00000375371.3	-	5	1511	c.1490A>T	c.(1489-1491)aAg>aTg	p.K497M		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	497					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CTGGCACCTCTTGGAACACAT	0.587													25	75					0	0	0	0	A	19168324	T	A	19168324	3	1	222	1	0	0	0	0	1	0	0	0	15654	1609	56	5	1037	5	TAS1R2	1	19168324	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	6260230	19168324	230082297	5	39643											
UBR4	23352	broad.mit.edu	37	chr1	19428082	19428082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagtcatccagattgtagcGcttggctgtctcaatgcaca	9	12	10	10	1	2	1	2	0	1	1	4	1	3	1	1	1	2	5	1	1	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:19428082G>T	ENST00000375267.2	-	88	12958	c.12955C>A	c.(12955-12957)Cgc>Agc	p.R4319S	UBR4_ENST00000375217.2_Missense_Mutation_p.R4312S|UBR4_ENST00000375226.2_Missense_Mutation_p.R4295S|UBR4_ENST00000375224.1_Missense_Mutation_p.R26S|UBR4_ENST00000543981.1_Missense_Mutation_p.R10S|UBR4_ENST00000375254.3_Missense_Mutation_p.R4319S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4319					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGATTGTAGCGCTTGGCTGTC	0.527													37	79					2.87052e-16	6.20833e-16	1	0	T	19428082	G	T	19428082	3	4	222	1	0	0	0	0	1	0	0	0	17000	1087	38	3	2672	3	UBR4	1	19428082	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	259758	19428082	229822539	6	39644											
PINK1	65018	broad.mit.edu	37	chr1	20977105	20977105	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaaacaaaaatgaagaTgctctttctggctaacctgg	13	11	10	7	0	2	2	0	1	2	1	2	3	2	3	1	3	3	2	1	3	5	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:20977105T>A	ENST00000321556.4	+	8	1761	c.1667T>A	c.(1666-1668)aTg>aAg	p.M556K	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	556					cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAAATGAAGATGCTCTTTCTG	0.542													32	23					0	0	0	0	A	20977105	T	A	20977105	3	1	222	1	0	0	0	0	1	0	0	0	12004	1464	51	5	1697	5	PINK1	1	20977105	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1549023	20977105	228273516	7	39645											
EPHA8	2046	broad.mit.edu	37	chr1	22919856	22919856	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatccgtcaagagcgggcGgggcagaccagcgtctcgct	7	6	16	12	5	2	3	1	1	1	2	4	3	3	3	2	3	2	2	2	3	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:22919856G>A	ENST00000166244.3	+	6	1425	c.1353G>A	c.(1351-1353)gcG>gcA	p.A451A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	451	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGAGCGGGCGGGGCAGACCA	0.657													3	3					0	0	0	0	A	22919856	G	A	22919856	2	1	222	1	0	0	0	0	0	0	0	1	5211	1103	39	1		1	EPHA8	1	22919856	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1942751	22919856	226330765	8	39646											
EPHA8	2046	broad.mit.edu	37	chr1	22927255	22927255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcggcgtggtcatgtgggaGgtgctggcctatggggagcg	4	10	20	7	3	1	0	1	0	0	0	2	2	1	2	1	7	2	1	1	7	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:22927255G>T	ENST00000166244.3	+	14	2562	c.2490G>T	c.(2488-2490)gaG>gaT	p.E830D		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	830	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCATGTGGGAGGTGCTGGCCT	0.682													55	45					6.60958e-23	1.57229e-22	1	0	T	22927255	G	T	22927255	3	4	222	1	0	0	0	0	1	0	0	0	5211	991	35	4	2717	4	EPHA8	1	22927255	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	7399	22927255	226323366	9	39647											
C1QB	713	broad.mit.edu	37	chr1	22987522	22987522	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accatcaacgtccccctgcgCcgggaccagaccatccgctt	8	6	8	19	4	1	1	1	0	0	1	3	2	3	2	7	1	2	1	7	1	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:22987522C>A	ENST00000509305.1	+	3	745	c.399C>A	c.(397-399)cgC>cgA	p.R133R	C1QB_ENST00000314933.6_Silent_p.R135R			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	135	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCCCCTGCGCCGGGACCAGA	0.592													63	50					5.10652e-33	1.25763e-32	1	0	A	22987522	C	A	22987522	2	1	222	1	0	0	0	0	0	0	0	1	1974	726	26	4		4	C1QB	1	22987522	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	60267	22987522	226263099	10	39648											
EPHB2	2048	broad.mit.edu	37	chr1	23234658	23234658	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccccacctacaccagtgcCctggtaagatggaggcaggg	10	5	13	13	0	0	1	0	0	0	1	0	3	0	2	5	4	2	2	5	4	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:23234658C>A	ENST00000400191.3	+	12	2367	c.2349C>A	c.(2347-2349)gcC>gcA	p.A783A	EPHB2_ENST00000374632.3_Silent_p.A784A|EPHB2_ENST00000374627.1_Silent_p.A778A|EPHB2_ENST00000374630.3_Silent_p.A783A	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	783	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACACCAGTGCCCTGGTAAGAT	0.552													24	22					9.95505e-16	2.12716e-15	1	0	A	23234658	C	A	23234658	2	1	222	1	0	0	0	0	0	0	0	1	5213	610	22	4		4	EPHB2	1	23234658	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	247136	23234658	226015963	11	39649											
E2F2	1870	broad.mit.edu	37	chr1	23857277	23857277	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagccaaggcccggggcccTtgcagcatagcgagtaaggc	10	4	15	12	2	0	0	0	0	0	0	0	2	0	0	3	4	4	3	3	4	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:23857277T>A	ENST00000361729.2	-	1	435	c.9A>T	c.(7-9)caA>caT	p.Q3H		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	3					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CCCGGGGCCCTTGCAGCATAG	0.721													9	7					0	0	0	0	A	23857277	T	A	23857277	3	1	222	1	0	0	0	0	1	0	0	0	4903	1606	56	5	1332	5	E2F2	1	23857277	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	622619	23857277	225393344	12	39650											
ARID1A	8289	broad.mit.edu	37	chr1	27089589	27089589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggacagcctggcatcccaCcttatggcacactccctcca	9	8	7	17	0	0	0	0	0	0	0	3	1	3	1	5	3	1	2	5	3	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:27089589C>T	ENST00000324856.7	+	8	2916	c.2545C>T	c.(2545-2547)Cct>Tct	p.P849S	ARID1A_ENST00000457599.2_Missense_Mutation_p.P849S|ARID1A_ENST00000374152.2_Missense_Mutation_p.P466S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	849					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGGCATCCCACCTTATGGCAC	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								17	43					0	0	0	0	T	27089589	C	T	27089589	3	4	222	1	0	0	0	0	1	0	0	0	915	507	18	4	2575	4	ARID1A	1	27089589	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3232312	27089589	222161032	13	39651											
CSMD2	114784	broad.mit.edu	37	chr1	34180246	34180246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccccccaggcacgtgatgCgggcggtgccctccagacgg	5	5	15	16	4	0	2	0	1	0	1	1	2	1	2	5	4	3	1	5	4	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:34180246C>A	ENST00000373381.4	-	21	3523	c.3347G>T	c.(3346-3348)cGc>cTc	p.R1116L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1076	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCACGTGATGCGGGCGGTGCC	0.627													158	105					2.63717e-51	6.62003e-51	1	0	A	34180246	C	A	34180246	3	1	222	1	0	0	0	0	1	0	0	0	3977	768	27	3	7432	3	CSMD2	1	34180246	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	7090657	34180246	215070375	14	39652											
UTP11L	51118	broad.mit.edu	37	chr1	38484769	38484769	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagagctccatctgctggaTttccaggggaagcaacagaa	12	8	11	10	0	2	2	1	0	1	2	4	4	4	4	2	3	4	3	2	3	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:38484769T>A	ENST00000373014.4	+	5	442	c.381T>A	c.(379-381)gaT>gaA	p.D127E	UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Missense_Mutation_p.D127E	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	127					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATCTGCTGGATTTCCAGGGGA	0.378													34	18					0	0	0	0	A	38484769	T	A	38484769	3	1	222	1	0	0	0	0	1	0	0	0	17190	1490	52	5	399	5	UTP11L	1	38484769	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	4304523	38484769	210765852	15	39653											
MACF1	23499	broad.mit.edu	37	chr1	39763349	39763349	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacctccaagattccattAaacgaaaatattcctgtgac	15	10	6	10	1	0	2	0	1	0	1	3	4	3	3	4	1	2	0	4	1	7	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:39763349A>T	ENST00000564288.1	+	21	3190	c.2413A>T	c.(2413-2415)Aaa>Taa	p.K805*	MACF1_ENST00000361689.2_Nonsense_Mutation_p.K810*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.K810*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.K810*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.K842*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.K810*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.K810*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	810					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATTCCATTAAACGAAAATA	0.463													46	26					0	0	0	0	T	39763349	A	T	39763349	4	4	222	1	0	0	0	0	0	1	0	0	9209	363	13	5	2506	5	MACF1	1	39763349	Nonsense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1278580	39763349	209487272	16	39654											
TIE1	7075	broad.mit.edu	37	chr1	43770797	43770797	+	Silent	SNP	C	C	A																															gcgtgggcggtgctggggcgCggcgcacgcgcgtcatctac																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:43770797C>A	ENST00000372476.3	+	2	413	c.334C>A	c.(334-336)Cgg>Agg	p.R112R	TIE1_ENST00000441333.2_Silent_p.R112R|TIE1_ENST00000538015.1_Silent_p.R112R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	112					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCTGGGGCGCGGCGCACGCG	0.701													12	16					4.3838e-07	7.67165e-07	1	0	A	43770797	C	A	43770797	2	1	222	1	0	0	0	0	0	0	0	1	15987	759	27	3		3	TIE1	1	43770797	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4007448	43770797	205479824	17	39655	294	2									
TIE1	7075	broad.mit.edu	37	chr1	43770798	43770798	+	Missense_Mutation	SNP	G	G	T																															cgtgggcggtgctggggcgcGgcgcacgcgcgtcatctacg																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:43770798G>T	ENST00000372476.3	+	2	414	c.335G>T	c.(334-336)cGg>cTg	p.R112L	TIE1_ENST00000441333.2_Missense_Mutation_p.R112L|TIE1_ENST00000538015.1_Missense_Mutation_p.R112L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	112					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTGGGGCGCGGCGCACGCGC	0.701													12	16					4.3838e-07	7.67165e-07	1	0	T	43770798	G	T	43770798	3	4	222	1	0	0	0	0	1	0	0	0	15987	1116	39	3	341	3	TIE1	1	43770798	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1	43770798	205479823	18	39656	294	2									
TAL1	6886	broad.mit.edu	37	chr1	47689705	47689705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccatctcatagggggaaGgtctcctcttcactcgattg	7	13	9	12	1	5	0	2	0	4	0	9	2	5	1	2	3	0	0	2	3	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:47689705G>A	ENST00000371883.3	-	3	1094	c.518C>T	c.(517-519)cCt>cTt	p.P173L	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Missense_Mutation_p.P171L|TAL1_ENST00000294339.3_Missense_Mutation_p.P171L			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	171					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						ATAGGGGGAAGGTCTCCTCTT	0.572			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								61	52					0	0	0	0	A	47689705	G	A	47689705	3	1	222	1	0	0	0	0	1	0	0	0	15632	1000	35	4	491	4	TAL1	1	47689705	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3918907	47689705	201560916	19	39657											
ELAVL4	1996	broad.mit.edu	37	chr1	50661318	50661319	+	Frame_Shift_Ins	INS	-	-	A																															ggctgaatggccagaagcccINSagcggtgctacggaaccgat																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:50661318_50661319insA	ENST00000371824.1	+	5	851_852	c.594_595insA	c.(592-597)ccgcggfs	p.R199fs	ELAVL4_ENST00000371827.1_Frame_Shift_Ins_p.R199fs|ELAVL4_ENST00000371821.1_Frame_Shift_Ins_p.R204fs|ELAVL4_ENST00000371823.4_Frame_Shift_Ins_p.R199fs|ELAVL4_ENST00000371819.1_Frame_Shift_Ins_p.R204fs|ELAVL4_ENST00000357083.4_Frame_Shift_Ins_p.R216fs|ELAVL4_ENST00000448907.2_Frame_Shift_Ins_p.R202fs			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	199	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCCAGAAGCCCAGCGGTGCTAC	0.569													85	63	---	---	---	---					A	50661319	-	A	50661318	7	5	222	1	0	1	1	0	0	0	0	0	5090	581	21	0	711	0	ELAVL4	1	50661318	Frame_Shift_Ins	INS	-	TCGA-CR-7402-01A-11D-2012-08	2971613	50661318	198589303	20	39658											
CYB5RL	606495	broad.mit.edu	37	chr1	54645006	54645006	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcccgtgcccgcagccAgcaagaggagctcaccatac	10	3	11	17	2	1	1	1	0	0	1	1	2	1	2	5	2	5	3	5	2	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:54645006A>T	ENST00000419823.2	-	6	784	c.560T>A	c.(559-561)cTg>cAg	p.L187Q	CYB5RL_ENST00000401046.3_Missense_Mutation_p.L39Q|CYB5RL_ENST00000542737.1_Missense_Mutation_p.L187Q|CYB5RL_ENST00000537208.1_Intron|CYB5RL_ENST00000534324.1_Missense_Mutation_p.L187Q|CYB5RL_ENST00000287899.8_Intron|RP11-446E24.4_ENST00000311841.7_Intron	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	187							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						GCCCGCAGCCAGCAAGAGGAG	0.542													9	12					0	0	0	0	T	54645006	A	T	54645006	3	4	222	1	0	0	0	0	1	0	0	0	4162	188	7	5	395	5	CYB5RL	1	54645006	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	3983688	54645006	194605615	21	39659											
KANK4	163782	broad.mit.edu	37	chr1	62728768	62728768	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaaccacttctgacctgtCtccagcagcagcttcacgat	9	10	7	15	1	3	1	1	1	2	0	4	2	3	1	3	0	5	4	3	0	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:62728768C>T	ENST00000371153.4	-	7	2913	c.2535G>A	c.(2533-2535)gaG>gaA	p.E845E	KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000354381.3_Silent_p.E217E|KANK4_ENST00000371150.1_Silent_p.E201E	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	845										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCTGACCTGTCTCCAGCAGCA	0.458													10	10					0	0	0	0	T	62728768	C	T	62728768	2	4	222	1	0	0	0	0	0	0	0	1	8032	912	32	2		2	KANK4	1	62728768	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	8083762	62728768	186521853	22	39660											
CACHD1	57685	broad.mit.edu	37	chr1	65138857	65138857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaggtgcttcataatggagGacaggggttatctggtggcg	9	10	16	6	1	2	0	1	0	1	0	2	2	2	2	0	7	1	2	0	7	2	3	rs148780022		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:65138857G>T	ENST00000371073.2	+	18	2527	c.2527G>T	c.(2527-2529)Gac>Tac	p.D843Y	CACHD1_ENST00000290039.5_Missense_Mutation_p.D792Y|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	843	Cache 2.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CATAATGGAGGACAGGGGTTA	0.453													99	79					2.65435e-51	6.65461e-51	1	0	T	65138857	G	T	65138857	3	4	222	1	0	0	0	0	1	0	0	0	2562	1174	41	2	2444	2	CACHD1	1	65138857	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2410089	65138857	184111764	23	39661											
LEPR	3953	broad.mit.edu	37	chr1	66036415	66036415	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaagatagaaactgctcCttatgtgcagacaacattga	15	9	9	8	0	0	4	0	1	0	3	1	5	1	4	1	0	5	3	1	0	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:66036415C>A	ENST00000349533.6	+	4	485	c.300C>A	c.(298-300)tcC>tcA	p.S100S	LEPR_ENST00000344610.8_Silent_p.S100S|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Silent_p.S100S|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371058.1_Silent_p.S100S|LEPR_ENST00000371060.3_Silent_p.S100S	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	100					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAAACTGCTCCTTATGTGCAG	0.333													36	23					1.96642e-18	4.38905e-18	1	0	A	66036415	C	A	66036415	2	1	222	1	0	0	0	0	0	0	0	1	8781	668	24	4		4	LEPR	1	66036415	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	897558	66036415	183214206	24	39662											
WDR78	79819	broad.mit.edu	37	chr1	67359072	67359072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagaggtcggggagtaaCatcagttccatttatgtcaa	13	11	11	6	1	2	1	2	0	0	1	4	2	3	2	1	3	1	3	1	3	5	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:67359072C>A	ENST00000371026.3	-	3	425	c.370G>T	c.(370-372)Gtt>Ttt	p.V124F	WDR78_ENST00000371022.3_Missense_Mutation_p.V124F|WDR78_ENST00000371023.3_Missense_Mutation_p.V124F|WDR78_ENST00000431318.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	124										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CGGGGAGTAACATCAGTTCCA	0.343													26	19					2.48779e-11	4.83449e-11	1	0	A	67359072	C	A	67359072	3	1	222	1	0	0	0	0	1	0	0	0	17424	478	17	4	2293	4	WDR78	1	67359072	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1322657	67359072	181891549	25	39663											
LRRC7	57554	broad.mit.edu	37	chr1	70493932	70493932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaaatctgttcaaaatttgGtgggtaagccaagccatgga	14	11	10	6	0	2	0	1	0	1	0	2	1	2	1	2	3	2	2	2	3	6	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:70493932G>A	ENST00000310961.5	+	19	2192	c.1774G>A	c.(1774-1776)Gtg>Atg	p.V592M	LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.V587M|RP11-181B18.1_ENST00000414132.1_RNA			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	587						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCAAAATTTGGTGGGTAAGCC	0.378													17	54					0	0	0	0	A	70493932	G	A	70493932	3	1	222	1	0	0	0	0	1	0	0	0	9084	1261	44	4	1821	4	LRRC7	1	70493932	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3134860	70493932	178756689	26	39664											
FPGT	8790	broad.mit.edu	37	chr1	74670412	74670412	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacaggtcttgccatcgtttCcttcataagcccagcataga	10	12	7	12	1	2	1	1	0	1	1	4	1	3	1	3	1	4	2	3	1	3	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:74670412C>G	ENST00000370898.2	+	4	718	c.681C>G	c.(679-681)ttC>ttG	p.F227L	FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT_ENST00000524915.1_Intron|TNNI3K_ENST00000370893.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370894.4_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GCCATCGTTTCCTTCATAAGC	0.403													15	47					0	0	0	0	G	74670412	C	G	74670412	3	3	222	1	0	0	0	0	1	0	0	0	6084	854	30	2	695	2	FPGT	1	74670412	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4176480	74670412	174580209	27	39665											
IFI44L	10964	broad.mit.edu	37	chr1	79106756	79106756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgattgcagtgaggttCttcaagacaactttttaaac	12	14	9	6	0	2	3	1	2	1	1	2	4	2	4	0	2	3	2	0	2	4	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:79106756C>A	ENST00000370751.4	+	7	1278	c.1099C>A	c.(1099-1101)Ctt>Att	p.L367I	IFI44L_ENST00000342282.3_Missense_Mutation_p.L109I|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	367						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGTGAGGTTCTTCAAGACAA	0.313													61	34					1.46168e-27	3.533e-27	1	0	A	79106756	C	A	79106756	3	1	222	1	0	0	0	0	1	0	0	0	7571	913	32	2	1121	2	IFI44L	1	79106756	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4436344	79106756	170143865	28	39666											
CCBL2	56267	broad.mit.edu	37	chr1	89430571	89430571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagatccatatgctcctaCtgtcacaaggatttctttat	12	14	6	9	0	2	1	1	0	1	1	4	3	4	2	2	1	2	1	2	1	5	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:89430571C>A	ENST00000260508.4	-	5	731	c.394G>T	c.(394-396)Gta>Tta	p.V132L	CCBL2_ENST00000370491.3_Missense_Mutation_p.V98L|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_Missense_Mutation_p.V132L	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	132					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TATGCTCCTACTGTCACAAGG	0.333													26	24					7.07758e-08	1.26696e-07	1	0	A	89430571	C	A	89430571	3	1	222	1	0	0	0	0	1	0	0	0	2758	565	20	4	1010	4	CCBL2	1	89430571	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	10323815	89430571	159820050	29	39667											
DPYD	1806	broad.mit.edu	37	chr1	97700482	97700482	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattccaccagtagccaaaaTgggaaatccaggcagagcac	16	5	9	11	0	0	1	0	0	0	1	2	2	2	2	4	2	2	3	4	2	5	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:97700482T>A	ENST00000370192.3	-	19	2468	c.2368A>T	c.(2368-2370)Att>Ttt	p.I790F	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	790					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GTAGCCAAAATGGGAAATCCA	0.463													39	27					0	0	0	0	A	97700482	T	A	97700482	3	1	222	1	0	0	0	0	1	0	0	0	4781	1464	51	5	729	5	DPYD	1	97700482	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	8269911	97700482	151550139	30	39668											
DPYD	1806	broad.mit.edu	37	chr1	97771816	97771816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaatctgaacagcttgcCtaacccagcggcagatgttc	12	8	10	11	1	1	2	0	1	1	1	2	3	1	3	2	2	5	3	2	2	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:97771816C>A	ENST00000370192.3	-	17	2196	c.2096G>T	c.(2095-2097)aGg>aTg	p.R699M	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	699					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AACAGCTTGCCTAACCCAGCG	0.423													41	157					6.45866e-13	1.28712e-12	1	0	A	97771816	C	A	97771816	3	1	222	1	0	0	0	0	1	0	0	0	4781	681	24	4	1009	4	DPYD	1	97771816	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	71334	97771816	151478805	31	39669											
LPPR5	163404	broad.mit.edu	37	chr1	99418732	99418732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtacaggcctcttccccaCtgatgaattgtgtatactgc	9	12	8	12	0	1	2	0	2	1	0	2	2	2	2	3	1	3	2	3	1	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:99418732C>A	ENST00000370188.3	-	3	875	c.515G>T	c.(514-516)aGt>aTt	p.S172I	LPPR5_ENST00000263177.4_Missense_Mutation_p.S172I	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		172						integral to membrane	hydrolase activity										CTCTTCCCCACTGATGAATTG	0.478													32	24					1.88708e-17	4.15499e-17	1	0	A	99418732	C	A	99418732	3	1	222	1	0	0	0	0	1	0	0	0	8992	565	20	4	466	4	LPPR5	1	99418732	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1646916	99418732	149831889	32	39670											
CELSR2	1952	broad.mit.edu	37	chr1	109803804	109803804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgagaagccctactgccagGtgaccacgcgcagcttcccc	8	6	10	17	3	0	2	0	1	0	1	2	3	1	2	5	1	4	2	5	1	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:109803804G>A	ENST00000271332.3	+	3	4160	c.4099G>A	c.(4099-4101)Gtg>Atg	p.V1367M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1367	Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTACTGCCAGGTGACCACGCG	0.632													28	67					0	0	0	0	A	109803804	G	A	109803804	3	1	222	1	0	0	0	0	1	0	0	0	3251	1261	44	4	4109	4	CELSR2	1	109803804	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	10385072	109803804	139446817	33	39671											
AMPD2	271	broad.mit.edu	37	chr1	110170415	110170415	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtcattctgctaccgcCggctgcagtacctgagctcc	8	9	10	14	2	2	1	1	1	1	0	3	2	3	1	4	1	5	5	4	1	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:110170415C>A	ENST00000256578.3	+	9	1492	c.1132C>A	c.(1132-1134)Cgg>Agg	p.R378R	AMPD2_ENST00000528454.1_Silent_p.R260R|AMPD2_ENST00000528667.1_Silent_p.R378R|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000342115.4_Silent_p.R297R|AMPD2_ENST00000393688.3_Silent_p.R259R|AMPD2_ENST00000358729.4_Silent_p.R303R	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	378					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGCTACCGCCGGCTGCAGTA	0.557													13	41					1.36491e-13	2.77385e-13	1	0	A	110170415	C	A	110170415	2	1	222	1	0	0	0	0	0	0	0	1	586	643	23	3		3	AMPD2	1	110170415	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	366611	110170415	139080206	34	39672											
GSTM4	2948	broad.mit.edu	37	chr1	110203833	110203833	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtccagccgcttcctccCaaaacctctgtacacaaggg	11	7	8	15	1	1	0	0	0	1	0	4	1	4	0	5	1	3	2	5	1	5	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:110203833C>G	ENST00000369836.4	+	8	923	c.614C>G	c.(613-615)cCa>cGa	p.P205R	GSTM4_ENST00000336075.5_Missense_Mutation_p.P144R|GSTM4_ENST00000326729.5_Intron|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000369833.1_3'UTR	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	205	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CGCTTCCTCCCAAAACCTCTG	0.577													16	164					0	0	0	0	G	110203833	C	G	110203833	3	3	222	1	0	0	0	0	1	0	0	0	6890	594	21	4	644	4	GSTM4	1	110203833	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	33418	110203833	139046788	35	39673											
PTPN22	26191	broad.mit.edu	37	chr1	114376998	114376998	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttccaccccattccagtGatgttccaatttttaccttc	8	16	4	13	0	0	1	0	1	0	0	4	1	3	1	6	0	1	2	6	0	2	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:114376998G>T	ENST00000359785.5	-	15	2093	c.1958C>A	c.(1957-1959)tCa>tAa	p.S653*	PTPN22_ENST00000420377.2_Nonsense_Mutation_p.S653*|PTPN22_ENST00000538253.1_Nonsense_Mutation_p.S409*|PTPN22_ENST00000528414.1_Nonsense_Mutation_p.S598*|PTPN22_ENST00000525799.1_Nonsense_Mutation_p.S526*|PTPN22_ENST00000460620.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	653					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATTCCAGTGATGTTCCAAT	0.363													26	71					1.1804e-14	2.46822e-14	1	0	T	114376998	G	T	114376998	4	4	222	1	0	0	0	0	0	1	0	0	12869	1294	45	2	516	2	PTPN22	1	114376998	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4173165	114376998	134873623	36	39674											
AP4B1	10717	broad.mit.edu	37	chr1	114442738	114442738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaactatgcaagatctggCgtacatgacaaagagcaaca	17	7	9	8	1	1	3	0	1	1	2	1	3	1	3	0	1	5	4	0	1	7	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:114442738C>T	ENST00000369569.1	-	5	1182	c.902G>A	c.(901-903)cGc>cAc	p.R301H	AP4B1_ENST00000369567.1_Missense_Mutation_p.R133H|AP4B1_ENST00000256658.4_Missense_Mutation_p.R301H|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.R208H	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	301					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGATCTGGCGTACATGACA	0.473													41	92					0	0	0	0	T	114442738	C	T	114442738	3	4	222	1	0	0	0	0	1	0	0	0	752	768	27	1	1341	1	AP4B1	1	114442738	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	65740	114442738	134807883	37	39675											
SYCP1	6847	broad.mit.edu	37	chr1	115527424	115527424	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacccattgaagaaagtaaaAaaaagagaaaaatggccttt	21	8	7	5	0	0	3	0	1	0	2	0	4	0	3	2	1	1	1	2	1	9	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:115527424A>T	ENST00000369522.3	+	30	2878	c.2638A>T	c.(2638-2640)Aaa>Taa	p.K880*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.K880*|SYCP1_ENST00000477590.1_Intron	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	880					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		AGAAAGTAAAAAAAAGAGAAA	0.259													31	66					0	0	0	0	T	115527424	A	T	115527424	4	4	222	1	0	0	0	0	0	1	0	0	15522	15	1	5	2752	5	SYCP1	1	115527424	Nonsense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1084686	115527424	133723197	38	39676											
NGF	4803	broad.mit.edu	37	chr1	115828838	115828838	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgagttccagtgctttgaGtcaatgccccggcacccgct	7	11	10	13	2	1	2	1	2	0	0	2	2	2	2	4	1	2	4	4	1	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:115828838G>A	ENST00000369512.2	-	3	747	c.579C>T	c.(577-579)gaC>gaT	p.D193D	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	193					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	AGTGCTTTGAGTCAATGCCCC	0.507													23	50					0	0	0	0	A	115828838	G	A	115828838	2	1	222	1	0	0	0	0	0	0	0	1	10465	1020	36	4		4	NGF	1	115828838	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	301414	115828838	133421783	39	39677											
IGSF3	3321	broad.mit.edu	37	chr1	117142746	117142746	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccttctcgatggcagttcGggttcggaagctggaggacc	7	9	15	10	3	1	0	0	0	1	0	4	4	1	3	2	5	2	4	2	5	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:117142746G>C	ENST00000369486.3	-	7	2611	c.1846C>G	c.(1846-1848)Cga>Gga	p.R616G	IGSF3_ENST00000318837.6_Missense_Mutation_p.R636G|IGSF3_ENST00000369483.1_Missense_Mutation_p.R636G	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	616	Ig-like C2-type 5.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATGGCAGTTCGGGTTCGGAAG	0.627													10	20					0	0	0	0	C	117142746	G	C	117142746	3	2	222	1	0	0	0	0	1	0	0	0	7654	1124	39	3	1758	3	IGSF3	1	117142746	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1313908	117142746	132107875	40	39678											
HSD3B2	3284	broad.mit.edu	37	chr1	119958051	119958051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggattggccacgatgggctgGagctgccttgtgacaggagc	7	8	17	9	1	0	1	0	1	0	0	0	5	0	4	2	5	3	2	2	5	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:119958051G>T	ENST00000543831.1	+	2	258	c.9G>T	c.(7-9)tgG>tgT	p.W3C	HSD3B2_ENST00000369416.3_Missense_Mutation_p.W3C|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	3					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CGATGGGCTGGAGCTGCCTTG	0.552													24	71					7.87624e-14	1.61071e-13	1	0	T	119958051	G	T	119958051	3	4	222	1	0	0	0	0	1	0	0	0	7441	1183	41	2	11	2	HSD3B2	1	119958051	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2815305	119958051	129292570	41	39679											
PDE4DIP	9659	broad.mit.edu	37	chr1	145075769	145075769	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgtcgcgtccccggaccGgtaaggcgtgtagtgagccc	5	7	15	14	7	0	1	0	1	0	0	3	2	1	2	4	3	1	2	4	3	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:145075769G>C	ENST00000369359.4	-	1	132	c.94C>G	c.(94-96)Cgg>Ggg	p.R32G	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R32G|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R32G|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R32G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCCCGGACCGGTAAGGCGTG	0.716			T	PDGFRB	MPD								11	70					0	0	0	0	C	145075769	G	C	145075769	3	2	222	1	0	0	0	0	1	0	0	0	11714	1115	39	3	8718	3	PDE4DIP	1	145075769	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	25117718	145075769	104174852	42	39680											
TXNIP	10628	broad.mit.edu	37	chr1	145439871	145439874	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															agccagccaactcaagagacAaagaaaaactttgaagtagt																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:145439871_145439874delAAAG	ENST00000369317.4	+	3	751_754	c.417_420delAAAG	c.(415-420)acfs	p.TK139fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	139					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCAAGAGACAAAGAAAAACTTTG	0.441													33	78	---	---	---	---					-	145439874	AAAG	-	145439871	7	5	222	1	0	1	0	1	0	0	0	0	16899	117	5	0	427	0	TXNIP	1	145439871	Frame_Shift_Del	DEL	AAAG	TCGA-CR-7402-01A-11D-2012-08	364102	145439871	103810750	43	39681											
LIX1L	128077	broad.mit.edu	37	chr1	145497393	145497393	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctgttcctctactaccagGgcaacagggaggaagctgac	10	9	11	11	0	2	1	0	1	2	0	3	3	3	3	2	3	4	3	2	3	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:145497393G>T	ENST00000369308.3	+	4	672	c.597_splice	c.e4-1	p.G200_splice	RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse)-like	200										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTACTACCAGGGCAACAGGGA	0.428													10	41					0.000978159	0.00156457	1	0	T	145497393	G	T	145497393	5	4	222	1	0	0	0	0	0	0	1	0	8887	1246	43	4	612	4	LIX1L	1	145497393	Splice_Site	SNP	G	TCGA-CR-7402-01A-11D-2012-08	57522	145497393	103753228	44	39682											
GJA5	2702	broad.mit.edu	37	chr1	147231343	147231343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccaggaagctccaatcgcCcatcttggcacagccaggga	10	6	10	15	1	1	0	0	0	1	0	4	2	3	2	4	3	2	2	4	3	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:147231343C>A	ENST00000271348.2	-	2	165	c.4G>T	c.(4-6)Ggc>Tgc	p.G2C	GJA5_ENST00000369237.1_Missense_Mutation_p.G2C	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	2					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CTCCAATCGCCCATCTTGGCA	0.493													16	69					1.99824e-07	3.52853e-07	1	0	A	147231343	C	A	147231343	3	1	222	1	0	0	0	0	1	0	0	0	6455	623	22	4	1076	4	GJA5	1	147231343	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1733950	147231343	102019278	45	39683											
HRNR	388697	broad.mit.edu	37	chr1	152192079	152192079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccagacccatgttggcCgtagctggaagagtgcccaa	10	6	14	11	1	0	2	0	0	0	2	0	4	0	4	4	3	3	3	4	3	3	2	rs141565920		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:152192079C>T	ENST00000368801.2	-	3	2101	c.2026G>A	c.(2026-2028)Ggc>Agc	p.G676S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	676					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGGCCGTAGCTGGAA	0.587													90	178					0	0	0	0	T	152192079	C	T	152192079	3	4	222	1	0	0	0	0	1	0	0	0	7409	652	23	1	6530	1	HRNR	1	152192079	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4960736	152192079	97058542	46	39684											
CRNN	49860	broad.mit.edu	37	chr1	152382869	152382869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgggtctgagttccaGatccagtcacagtctcacct	7	11	9	14	0	3	2	2	1	2	1	6	2	5	2	4	1	1	1	4	1	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:152382869G>T	ENST00000271835.3	-	3	751	c.689C>A	c.(688-690)tCt>tAt	p.S230Y	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	230	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGTTCCAGATCCAGTCAC	0.577													98	211					4.7146e-34	1.167e-33	1	0	T	152382869	G	T	152382869	3	4	222	1	0	0	0	0	1	0	0	0	3922	942	33	2	802	2	CRNN	1	152382869	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	190790	152382869	96867752	47	39685											
SPRR1B	6699	broad.mit.edu	37	chr1	153004977	153004977	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgagccctgccaccccaaAgtgcccgagccctgccagcc	7	4	9	21	1	0	1	0	1	0	0	0	2	0	1	9	0	6	0	9	0	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:153004977A>G	ENST00000392661.3	+	1	156	c.156_splice	c.e1+1	p.K52_splice	SPRR1B_ENST00000307098.4_Silent_p.K52K			P22528	SPR1B_HUMAN	small proline-rich protein 1B	68	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCACCCCAAAGTGCCCGAGC	0.627													13	122					0	0	0	0	G	153004977	A	G	153004977	5	3	222	1	0	0	0	0	0	0	1	0	15186	69	3	5	158	5	SPRR1B	1	153004977	Splice_Site	SNP	A	TCGA-CR-7402-01A-11D-2012-08	622108	153004977	96245644	48	39686											
NES	10763	broad.mit.edu	37	chr1	156642721	156642721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctctggagcctgtttcctcCcaccctgtgtctggagcaga	5	11	11	14	0	2	1	0	0	2	1	4	3	4	3	4	2	2	3	4	2	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:156642721C>A	ENST00000368223.3	-	4	1391	c.1259G>T	c.(1258-1260)gGg>gTg	p.G420V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	420	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGTTTCCTCCCACCCTGTGT	0.657													24	67					4.47668e-21	1.04083e-20	1	0	A	156642721	C	A	156642721	3	1	222	1	0	0	0	0	1	0	0	0	10407	623	22	4	3610	4	NES	1	156642721	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3637744	156642721	92607900	49	39687											
OR6K6	128371	broad.mit.edu	37	chr1	158724824	158724824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaactggaaacctaataatGttcattgtcatccaggtggg	12	12	9	8	0	2	0	2	0	0	0	3	1	3	1	2	3	2	1	2	3	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:158724824G>T	ENST00000368144.2	+	1	315	c.219G>T	c.(217-219)atG>atT	p.M73I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ACCTAATAATGTTCATTGTCA	0.468													32	125					1.45844e-13	2.95776e-13	1	0	T	158724824	G	T	158724824	3	4	222	1	0	0	0	0	1	0	0	0	11275	1377	48	4	221	4	OR6K6	1	158724824	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2082103	158724824	90525797	50	39688											
CCDC19	25790	broad.mit.edu	37	chr1	159850454	159850454	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcgcttaatctcagcttGcatcttcagtttttgttgct	6	18	8	9	1	3	0	2	0	2	0	4	1	3	0	0	0	4	6	0	0	1	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:159850454G>A	ENST00000426543.2	-	8	1134	c.679C>T	c.(679-681)Caa>Taa	p.Q227*	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Nonsense_Mutation_p.Q312*			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	312						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ATCTCAGCTTGCATCTTCAGT	0.468													16	65					0	0	0	0	A	159850454	G	A	159850454	4	1	222	1	0	0	0	0	0	1	0	0	2821	1328	46	4	741	4	CCDC19	1	159850454	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1125630	159850454	89400167	51	39689											
DDR2	4921	broad.mit.edu	37	chr1	162724444	162724444	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagaaggggatggagcctgGtgccctgagattccagtgga	10	7	17	7	0	0	2	0	1	0	2	1	7	1	5	3	5	2	0	3	5	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:162724444G>A	ENST00000367922.2	+	6	654	c.216G>A	c.(214-216)tgG>tgA	p.W72*	DDR2_ENST00000367921.3_Nonsense_Mutation_p.W72*	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	72	F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ATGGAGCCTGGTGCCCTGAGA	0.557													38	74					0	0	0	0	A	162724444	G	A	162724444	4	1	222	1	0	0	0	0	0	1	0	0	4369	1270	44	4	226	4	DDR2	1	162724444	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2873990	162724444	86526177	52	39690											
RXRG	6258	broad.mit.edu	37	chr1	165377463	165377463	+	Splice_Site	SNP	C	C	A																															ctggggttgaagggcggttaCctgggttaaagagtacaatg																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:165377463C>A	ENST00000359842.5	-	8	1441		c.e8+1			NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	AGGGCGGTTACCTGGGTTAAA	0.517													34	66					2.05212e-20	4.73734e-20	1	0	A	165377463	C	A	165377463	5	1	222	1	0	0	0	0	0	0	1	0	13850	521	18	4	264	4	RXRG	1	165377463	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2653019	165377463	83873158	53	39691	295	2									
RXRG	6258	broad.mit.edu	37	chr1	165377464	165377464	+	Splice_Site	SNP	C	C	A																															tggggttgaagggcggttacCtgggttaaagagtacaatgg																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:165377464C>A	ENST00000359842.5	-	8	1440	c.1138_splice	c.e8+1	p.D380_splice		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	380	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GGGCGGTTACCTGGGTTAAAG	0.512													34	66					2.05212e-20	4.73734e-20	1	0	A	165377464	C	A	165377464	5	1	222	1	0	0	0	0	0	0	1	0	13850	695	24	4	265	4	RXRG	1	165377464	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1	165377464	83873157	54	39692	295	2									
DUSP27	92235	broad.mit.edu	37	chr1	167097589	167097589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggaagatgtggaagagtCatccaagtcagacttctctg	11	10	12	8	0	3	3	2	0	1	3	5	5	4	5	1	2	0	0	1	2	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:167097589C>T	ENST00000361200.2	+	6	3387	c.3221C>T	c.(3220-3222)tCa>tTa	p.S1074L	DUSP27_ENST00000443333.1_Missense_Mutation_p.S1074L|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.S1074L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1074					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTGGAAGAGTCATCCAAGTCA	0.522													10	14					0	0	0	0	T	167097589	C	T	167097589	3	4	222	1	0	0	0	0	1	0	0	0	4860	838	29	2	3239	2	DUSP27	1	167097589	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1720125	167097589	82153032	55	39693											
SELL	6402	broad.mit.edu	37	chr1	169673747	169673747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatgaccagtttccaaatGgtccacaggtggtttcttca	10	12	10	9	0	2	2	1	1	1	1	4	3	4	2	3	3	0	2	3	3	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:169673747G>T	ENST00000236147.4	-	5	927	c.767C>A	c.(766-768)cCa>cAa	p.P256Q	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	243	Sushi 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GTTTCCAAATGGTCCACAGGT	0.463													3	3					0.004672	0.00735247	1	0	T	169673747	G	T	169673747	3	4	222	1	0	0	0	0	1	0	0	0	14103	1348	47	4	410	4	SELL	1	169673747	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2576158	169673747	79576874	56	39694											
KIFAP3	22920	broad.mit.edu	37	chr1	169941740	169941740	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgagatatgctggagcctCtgaataaaaatggttaaaga	16	11	10	4	0	1	3	0	2	1	2	1	5	1	4	1	2	2	2	1	2	8	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:169941740C>G	ENST00000367765.1	-	17	3279		c.e17-1		KIFAP3_ENST00000367767.1_Splice_Site|KIFAP3_ENST00000361580.2_Splice_Site|KIFAP3_ENST00000538366.1_Splice_Site|KIFAP3_ENST00000540905.1_Splice_Site	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3						blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTGGAGCCTCTGAATAAAAA	0.279													7	18					0	0	0	0	G	169941740	C	G	169941740	5	3	222	1	0	0	0	0	0	0	1	0	8362	927	32	2	497	2	KIFAP3	1	169941740	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	267993	169941740	79308881	57	39695											
TNFSF18	8995	broad.mit.edu	37	chr1	173010716	173010716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctcaaaaggagctacatCattgtagtttgcattgggag	12	11	10	8	0	2	0	2	0	0	0	2	2	2	2	1	2	3	4	1	2	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:173010716C>T	ENST00000404377.3	-	3	391	c.391G>A	c.(391-393)Gat>Aat	p.D131N	TNFSF18_ENST00000239468.2_Missense_Mutation_p.D109N|RP1-15D23.2_ENST00000432694.1_RNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	131					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						GGAGCTACATCATTGTAGTTT	0.383													40	92					0	0	0	0	T	173010716	C	T	173010716	3	4	222	1	0	0	0	0	1	0	0	0	16403	826	29	2	212	2	TNFSF18	1	173010716	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3068976	173010716	76239905	58	39696											
TNN	63923	broad.mit.edu	37	chr1	175049390	175049390	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccaggtggatcactacctCctcagctactaccccctggg	8	8	9	16	0	2	0	2	0	0	0	3	1	3	1	5	3	5	1	5	3	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:175049390C>A	ENST00000239462.4	+	4	989	c.876C>A	c.(874-876)ctC>ctA	p.L292L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	292	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATCACTACCTCCTCAGCTACT	0.592													18	37					5.3912e-06	9.12394e-06	1	0	A	175049390	C	A	175049390	2	1	222	1	0	0	0	0	0	0	0	1	16417	842	30	2		2	TNN	1	175049390	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2038674	175049390	74201231	59	39697											
TNN	63923	broad.mit.edu	37	chr1	175054604	175054604	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaggagagctggagggcaAgccgatcctcctgaatggca	11	5	16	9	1	0	3	0	1	0	2	2	7	2	4	3	4	2	3	3	4	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:175054604A>G	ENST00000239462.4	+	6	1411	c.1298A>G	c.(1297-1299)aAg>aGg	p.K433R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	433	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGGAGGGCAAGCCGATCCTC	0.532													6	16					0	0	0	0	G	175054604	A	G	175054604	3	3	222	1	0	0	0	0	1	0	0	0	16417	72	3	5	1316	5	TNN	1	175054604	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	5214	175054604	74196017	60	39698											
TNN	63923	broad.mit.edu	37	chr1	175067479	175067479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttccagatattgacagcCccaaaaacctggtgactgac	12	9	7	13	0	0	4	0	3	0	1	2	4	2	4	5	1	2	0	5	1	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:175067479C>G	ENST00000239462.4	+	9	1980	c.1867C>G	c.(1867-1869)Ccc>Gcc	p.P623A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	623	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TATTGACAGCCCCAAAAACCT	0.507													40	122					0	0	0	0	G	175067479	C	G	175067479	3	3	222	1	0	0	0	0	1	0	0	0	16417	623	22	4	1897	4	TNN	1	175067479	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	12875	175067479	74183142	61	39699											
ABL2	27	broad.mit.edu	37	chr1	179077050	179077050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatagcctgagcagtagtCaagcagctggtgtccagtgt	10	9	12	10	0	1	1	1	1	0	0	2	1	2	1	2	1	4	4	2	1	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:179077050C>A	ENST00000502732.1	-	12	3555	c.3352G>T	c.(3352-3354)Gac>Tac	p.D1118Y	ABL2_ENST00000512653.1_Missense_Mutation_p.D1103Y|ABL2_ENST00000511413.1_Missense_Mutation_p.D1015Y|ABL2_ENST00000408940.3_Missense_Mutation_p.D1082Y|ABL2_ENST00000504405.1_Missense_Mutation_p.D979Y|ABL2_ENST00000344730.3_Missense_Mutation_p.D1000Y|ABL2_ENST00000367623.4_Missense_Mutation_p.D1097Y|ABL2_ENST00000507173.1_Missense_Mutation_p.D994Y	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1118	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GAGCAGTAGTCAAGCAGCTGG	0.552			T	ETV6	AML								15	45					7.93312e-07	1.37597e-06	1	0	A	179077050	C	A	179077050	3	1	222	1	0	0	0	0	1	0	0	0	93	826	29	2	200	2	ABL2	1	179077050	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4009571	179077050	70173571	62	39700											
TDRD5	163589	broad.mit.edu	37	chr1	179632540	179632540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttggcagccttcaggcCttgtaaatggaacgaaagta	12	11	10	8	1	2	0	1	0	1	0	2	2	2	1	2	3	2	3	2	3	5	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:179632540C>T	ENST00000444136.1	+	16	2813	c.2563C>T	c.(2563-2565)Ctt>Ttt	p.L855F	TDRD5_ENST00000367614.1_Missense_Mutation_p.L801F|TDRD5_ENST00000294848.8_Missense_Mutation_p.L801F	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	832					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GCCTTCAGGCCTTGTAAATGG	0.398													16	45					0	0	0	0	T	179632540	C	T	179632540	3	4	222	1	0	0	0	0	1	0	0	0	15827	681	24	4	2455	4	TDRD5	1	179632540	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	555490	179632540	69618081	63	39701											
CEP350	9857	broad.mit.edu	37	chr1	180061771	180061771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttcactgtctggttctgaGagatcagtatcagaaaggtc	10	12	11	8	0	5	3	3	1	2	2	6	4	5	3	0	2	0	3	0	2	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:180061771G>C	ENST00000367607.3	+	34	6949	c.6531G>C	c.(6529-6531)gaG>gaC	p.E2177D	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2177						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTGGTTCTGAGAGATCAGTAT	0.348													8	16					0	0	0	0	C	180061771	G	C	180061771	3	2	222	1	0	0	0	0	1	0	0	0	3283	933	33	2	6661	2	CEP350	1	180061771	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	429231	180061771	69188850	64	39702											
CACNA1E	777	broad.mit.edu	37	chr1	181705563	181705563	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgttcatcttcagcaccAccaacccgtaagccaccctc	11	8	4	18	1	3	0	2	0	1	0	4	0	3	0	5	0	3	3	5	0	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:181705563A>T	ENST00000526775.1	+	21	3523	c.3358A>T	c.(3358-3360)Acc>Tcc	p.T1120S	CACNA1E_ENST00000367567.4_Missense_Mutation_p.T746S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T1071S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1090S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1139S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T1139S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1120S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1139					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTCAGCACCACCAACCCGTA	0.577													5	13					0	0	0	0	T	181705563	A	T	181705563	3	4	222	1	0	0	0	0	1	0	0	0	2567	159	6	5	3501	5	CACNA1E	1	181705563	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1643792	181705563	67545058	65	39703											
CACNA1E	777	broad.mit.edu	37	chr1	181754552	181754552	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggcagcagctggaggaaCaggtgaaagtcaatgccagc	14	4	15	8	0	1	2	1	1	0	1	1	4	1	4	1	4	5	3	1	4	3	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:181754552C>G	ENST00000526775.1	+	41	5785	c.5620C>G	c.(5620-5622)Cag>Gag	p.Q1874E	CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q1500E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q1825E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q1844E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q1893E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.Q1893E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q1874E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1893					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.Q1893E(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTGGAGGAACAGGTGAAAGT	0.537													6	19					0	0	0	0	G	181754552	C	G	181754552	3	3	222	1	0	0	0	0	1	0	0	0	2567	479	17	4	5843	4	CACNA1E	1	181754552	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	48989	181754552	67496069	66	39704											
CACNA1E	777	broad.mit.edu	37	chr1	181759621	181759621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcgatgagtccactctctCcccaggatatattccagttg	8	13	7	13	1	1	1	0	1	1	0	6	3	4	2	4	1	0	1	4	1	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:181759621C>T	ENST00000526775.1	+	43	5935	c.5770C>T	c.(5770-5772)Ccc>Tcc	p.P1924S	CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1550S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1875S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1894S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1943S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1943S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1924S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1943					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCACTCTCTCCCCAGGATAT	0.498													9	35					0	0	0	0	T	181759621	C	T	181759621	3	4	222	1	0	0	0	0	1	0	0	0	2567	855	30	2	6001	2	CACNA1E	1	181759621	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	5069	181759621	67491000	67	39705											
GLUL	2752	broad.mit.edu	37	chr1	182354693	182354693	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccaatctgaaattcccacTagaaacgagaagcttggcca	14	8	8	11	1	1	3	0	1	1	2	3	4	3	3	3	1	2	1	3	1	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:182354693T>C	ENST00000311223.5	-	7	1500		c.e7-2		GLUL_ENST00000339526.4_Splice_Site|GLUL_ENST00000417584.2_Splice_Site|GLUL_ENST00000331872.6_Splice_Site|GLUL_ENST00000491322.1_5'UTR	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase						cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	AAATTCCCACTAGAAACGAGA	0.463													19	51					0	0	0	0	C	182354693	T	C	182354693	5	2	222	1	0	0	0	0	0	0	1	0	6529	1536	53	5	527	5	GLUL	1	182354693	Splice_Site	SNP	T	TCGA-CR-7402-01A-11D-2012-08	595072	182354693	66895928	68	39706											
RGS8	85397	broad.mit.edu	37	chr1	182640845	182640845	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccaactggatggtcagaGaggcttcgggttaaggtgtt	8	12	15	6	1	1	1	1	0	0	1	2	3	1	2	1	5	2	3	1	5	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:182640845G>A	ENST00000258302.4	-	2	116	c.27C>T	c.(25-27)ctC>ctT	p.L9L	RGS8_ENST00000367557.4_5'UTR|RGS8_ENST00000367556.1_5'UTR|RGS8_ENST00000483095.2_5'UTR|RGS8_ENST00000491420.2_5'UTR	NM_033345.2	NP_203131.1	P57771	RGS8_HUMAN	regulator of G-protein signaling 8	0					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GATGGTCAGAGAGGCTTCGGG	0.498													23	73					0	0	0	0	A	182640845	G	A	182640845	2	1	222	1	0	0	0	0	0	0	0	1	13395	929	33	2		2	RGS8	1	182640845	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	286152	182640845	66609776	69	39707											
PTPRC	5788	broad.mit.edu	37	chr1	198721748	198721748	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactctcgaactgtgtaccAgtaccaatatacaaactgga	15	9	7	10	1	1	1	0	0	1	1	2	3	1	2	2	1	5	2	2	1	7	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:198721748A>T	ENST00000367376.2	+	31	3521	c.3350A>T	c.(3349-3351)cAg>cTg	p.Q1117L	PTPRC_ENST00000594404.1_Missense_Mutation_p.Q956L|PTPRC_ENST00000442510.2_Missense_Mutation_p.Q1119L|PTPRC_ENST00000348564.6_Missense_Mutation_p.Q958L|PTPRC_ENST00000352140.3_Missense_Mutation_p.Q1069L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1117	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACTGTGTACCAGTACCAATAT	0.378													10	39					0	0	0	0	T	198721748	A	T	198721748	3	4	222	1	0	0	0	0	1	0	0	0	12879	188	7	5	3479	5	PTPRC	1	198721748	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	16080903	198721748	50528873	70	39708											
KIF21B	23046	broad.mit.edu	37	chr1	200948800	200948800	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggccctttagagctgcGatctcctgtcccgtaaccaa	7	10	11	13	2	1	1	0	0	1	1	3	2	2	1	4	2	3	2	4	2	3	3	rs144601295		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:200948800G>T	ENST00000332129.2	-	29	4300	c.3984C>A	c.(3982-3984)atC>atA	p.I1328I	KIF21B_ENST00000422435.2_Silent_p.I1341I|KIF21B_ENST00000360529.5_Silent_p.I1328I|KIF21B_ENST00000461742.2_Silent_p.I1341I	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1341					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTAGAGCTGCGATCTCCTGTC	0.587											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	166					4.49761e-31	1.10211e-30	1	0	T	200948800	G	T	200948800	2	4	222	1	0	0	0	0	0	0	0	1	8340	1048	37	3		3	KIF21B	1	200948800	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2227052	200948800	48301821	71	39709											
CHIT1	1118	broad.mit.edu	37	chr1	203192687	203192687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcttcctgggtactccCagtcaaggtcaaggccgtca	7	9	11	14	1	3	0	3	0	0	0	5	0	5	0	4	4	1	2	4	4	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:203192687C>A	ENST00000367229.1	-	5	450	c.416G>T	c.(415-417)tGg>tTg	p.W139L	CHIT1_ENST00000255427.3_Missense_Mutation_p.W120L|CHIT1_ENST00000535569.1_Missense_Mutation_p.W130L|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	139					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TGGGTACTCCCAGTCAAGGTC	0.582													42	83					9.85913e-13	1.96278e-12	1	0	A	203192687	C	A	203192687	3	1	222	1	0	0	0	0	1	0	0	0	3375	595	21	4	1012	4	CHIT1	1	203192687	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2243887	203192687	46057934	72	39710											
FCAMR	83953	broad.mit.edu	37	chr1	207131928	207131928	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagagtcatcctggagcAtctttctttccacatggggc	9	11	11	10	0	3	1	1	0	2	1	5	4	5	2	2	3	1	1	2	3	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:207131928A>T	ENST00000324852.4	-	8	2141	c.1667T>A	c.(1666-1668)aTg>aAg	p.M556K	FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_3'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	511						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						ATCCTGGAGCATCTTTCTTTC	0.537													28	62					0	0	0	0	T	207131928	A	T	207131928	3	4	222	1	0	0	0	0	1	0	0	0	5817	217	8	5	70	5	FCAMR	1	207131928	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	3939241	207131928	42118693	73	39711											
CR1	1378	broad.mit.edu	37	chr1	207790123	207790123	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttggagcagccctgcccctCgctgtgaactttctgttcct	4	14	9	14	1	1	1	0	1	1	0	3	2	2	2	4	1	4	3	4	1	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:207790123C>G	ENST00000367049.4	+	41	6865	c.6865C>G	c.(6865-6867)Cgc>Ggc	p.R2289G	CR1_ENST00000400960.2_Missense_Mutation_p.R1839G|CR1_ENST00000367053.1_Missense_Mutation_p.R1839G|CR1_ENST00000367051.1_Missense_Mutation_p.R1839G|CR1_ENST00000367052.1_Missense_Mutation_p.R1839G	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1839					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCCTGCCCCTCGCTGTGAACT	0.507													37	114					0	0	0	0	G	207790123	C	G	207790123	3	3	222	1	0	0	0	0	1	0	0	0	3870	884	31	3	7027	3	CR1	1	207790123	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	658195	207790123	41460498	74	39712											
USH2A	7399	broad.mit.edu	37	chr1	215847664	215847664	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccatccctgagggtgctGaggggctggttcgatctttg	4	13	15	9	1	1	2	0	2	1	0	4	3	3	2	2	4	1	4	2	4	0	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:215847664G>T	ENST00000366943.2	-	63	13975	c.13589C>A	c.(13588-13590)tCa>tAa	p.S4530*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.S4530*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4530	Fibronectin type-III 31.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAGGGTGCTGAGGGGCTGGT	0.512										HNSCC(13;0.011)			43	81					7.05121e-23	1.67531e-22	1	0	T	215847664	G	T	215847664	4	4	222	1	0	0	0	0	0	1	0	0	17132	1294	45	2	2059	2	USH2A	1	215847664	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	8057541	215847664	33402957	75	39713											
WDR26	80232	broad.mit.edu	37	chr1	224585902	224585902	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttcttactaaaactctGtcttgcaagtcccataaatg	12	15	4	10	0	3	0	0	0	3	0	4	0	4	0	1	0	4	1	1	0	7	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:224585902G>C	ENST00000414423.2	-	12	1864	c.1671C>G	c.(1669-1671)gaC>gaG	p.D557E	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000479727.1_5'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.D410E	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	557						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CTAAAACTCTGTCTTGCAAGT	0.358													10	18					0	0	0	0	C	224585902	G	C	224585902	3	2	222	1	0	0	0	0	1	0	0	0	17379	1368	48	4	326	4	WDR26	1	224585902	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	8738238	224585902	24664719	76	39714											
OBSCN	84033	broad.mit.edu	37	chr1	228481186	228481186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatgagaccctcagagatgGagacagacacagcctgaggc	13	4	13	11	0	1	5	1	2	0	4	1	8	1	5	2	2	1	1	2	2	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:228481186G>T	ENST00000570156.2	+	46	12361	c.12287G>T	c.(12286-12288)gGa>gTa	p.G4096V	OBSCN_ENST00000422127.1_Missense_Mutation_p.G3667V|OBSCN_ENST00000366707.4_Missense_Mutation_p.G786V|OBSCN_ENST00000359599.6_Missense_Mutation_p.G2514V|OBSCN_ENST00000366709.4_Missense_Mutation_p.G786V|OBSCN_ENST00000284548.11_Missense_Mutation_p.G3667V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3138	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCAGAGATGGAGACAGACAC	0.642													25	50					4.87955e-14	9.99976e-14	1	0	T	228481186	G	T	228481186	3	4	222	1	0	0	0	0	1	0	0	0	10883	1174	41	2	11158	2	OBSCN	1	228481186	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3895284	228481186	20769435	77	39715											
OBSCN	84033	broad.mit.edu	37	chr1	228492877	228492877	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgaagaggccacagaagggGccacggctatgttgcagtgt	11	7	15	8	1	0	3	0	1	0	2	0	3	0	3	2	4	1	3	2	4	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:228492877G>C	ENST00000570156.2	+	54	14394	c.14320G>C	c.(14320-14322)Gcc>Ccc	p.A4774P	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1451P|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3817					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACAGAAGGGGCCACGGCTAT	0.567													22	58					0	0	0	0	C	228492877	G	C	228492877	3	2	222	1	0	0	0	0	1	0	0	0	10883	1218	42	4		4	OBSCN	1	228492877	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	11691	228492877	20757744	78	39716											
TAF5L	27097	broad.mit.edu	37	chr1	229730582	229730582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacgtccgatcaaatgacCacagcctggcggtgcggtcg	8	7	14	12	5	1	1	1	1	0	0	3	2	2	1	3	4	3	1	3	4	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:229730582C>A	ENST00000258281.2	-	5	1397	c.1232G>T	c.(1231-1233)tGg>tTg	p.W411L	TAF5L_ENST00000366676.1_Missense_Mutation_p.W411L	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	411					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				ATCAAATGACCACAGCCTGGC	0.547													21	92					7.41877e-09	1.35664e-08	1	0	A	229730582	C	A	229730582	3	1	222	1	0	0	0	0	1	0	0	0	15620	595	21	4	541	4	TAF5L	1	229730582	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1237705	229730582	19520039	79	39717											
URB2	9816	broad.mit.edu	37	chr1	229794961	229794961	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgctgcagccgggaatgAgagacatctttaaggagctc	10	8	12	11	2	1	2	0	1	1	1	3	5	1	4	2	2	3	3	2	2	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:229794961A>G	ENST00000258243.2	+	10	4628	c.4492A>G	c.(4492-4494)Aga>Gga	p.R1498G		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1498						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCCGGGAATGAGAGACATCTT	0.507													43	140					0	0	0	0	G	229794961	A	G	229794961	3	3	222	1	0	0	0	0	1	0	0	0	17121	296	11	5	4526	5	URB2	1	229794961	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	64379	229794961	19455660	80	39718											
NID1	4811	broad.mit.edu	37	chr1	236208939	236208939	+	Frame_Shift_Del	DEL	G	G	-																															ggataaaggaaaatggcataGgagctggaatcagaggaggc																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:236208939delG	ENST00000264187.6	-	3	652	c.570delC	c.(568-570)tcfs	p.S190fs	NID1_ENST00000366595.3_Frame_Shift_Del_p.S190fs	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	190	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AAATGGCATAGGAGCTGGAAT	0.413													15	35	---	---	---	---					-	236208939	G	-	236208939	7	5	222	1	0	1	0	1	0	0	0	0	10484	987	35	0	3245	0	NID1	1	236208939	Frame_Shift_Del	DEL	G	TCGA-CR-7402-01A-11D-2012-08	6413978	236208939	13041682	81	39719											
ACTN2	88	broad.mit.edu	37	chr1	236912520	236912520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggatggagggcgctatggagGatctgcaagatatgttcatt	10	11	15	5	1	2	1	1	0	1	1	2	5	2	5	0	5	1	3	0	5	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:236912520G>C	ENST00000366578.4	+	14	1778	c.1612G>C	c.(1612-1614)Gat>Cat	p.D538H	ACTN2_ENST00000546208.1_Missense_Mutation_p.D32H|ACTN2_ENST00000542672.1_Missense_Mutation_p.D538H	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	538					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGCTATGGAGGATCTGCAAGA	0.443													17	65					0	0	0	0	C	236912520	G	C	236912520	3	2	222	1	0	0	0	0	1	0	0	0	205	1174	41	2	1666	2	ACTN2	1	236912520	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	703581	236912520	12338101	82	39720											
RYR2	6262	broad.mit.edu	37	chr1	237608772	237608772	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagcatgaagaatcacgCacagcccgagttatccggag	12	6	10	13	3	1	2	1	1	0	1	3	4	3	3	3	1	2	3	3	1	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:237608772C>A	ENST00000366574.2	+	14	1559	c.1242C>A	c.(1240-1242)cgC>cgA	p.R414R	RYR2_ENST00000542537.1_Silent_p.R398R|RYR2_ENST00000360064.6_Silent_p.R412R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	414			R -> L (in CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGAATCACGCACAGCCCGAG	0.393													25	109					2.21704e-12	4.36039e-12	1	0	A	237608772	C	A	237608772	2	1	222	1	0	0	0	0	0	0	0	1	13854	697	25	4		4	RYR2	1	237608772	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	696252	237608772	11641849	83	39721											
RYR2	6262	broad.mit.edu	37	chr1	237947191	237947191	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccataagcactacacgcAgtcagaaacggaatttcttt	14	9	8	10	2	2	1	1	0	1	1	2	3	2	2	1	1	4	2	1	1	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:237947191A>C	ENST00000366574.2	+	90	12496	c.12179A>C	c.(12178-12180)cAg>cCg	p.Q4060P	RYR2_ENST00000542537.1_Missense_Mutation_p.Q4044P|RYR2_ENST00000360064.6_Missense_Mutation_p.Q4066P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4060					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACTACACGCAGTCAGAAACG	0.483													12	14					0	0	0	0	C	237947191	A	C	237947191	3	2	222	1	0	0	0	0	1	0	0	0	13854	188	7	5	12537	5	RYR2	1	237947191	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	338419	237947191	11303430	84	39722											
PLD5	200150	broad.mit.edu	37	chr1	242253370	242253370	+	Frame_Shift_Del	DEL	C	C	-																															ggttgataacaaggcccgtgCcagcattctgagtgaaatca																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:242253370delC	ENST00000442594.2	-	11	1630	c.1121delG	c.(1120-1122)gcfs	p.G374fs	PLD5_ENST00000536534.1_Frame_Shift_Del_p.G466fs|PLD5_ENST00000427495.1_Frame_Shift_Del_p.G404fs	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	466						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AAGGCCCGTGCCAGCATTCTG	0.423													65	85	---	---	---	---					-	242253370	C	-	242253370	7	5	222	1	0	1	0	1	0	0	0	0	12121	739	26	0	217	0	PLD5	1	242253370	Frame_Shift_Del	DEL	C	TCGA-CR-7402-01A-11D-2012-08	4306179	242253370	6997251	85	39723											
HNRNPU	3192	broad.mit.edu	37	chr1	245018845	245018845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagccgattccaccacttcCtccaccgccaccacctctct	8	9	3	21	2	1	0	0	0	1	0	5	1	4	0	9	0	1	0	9	0	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:245018845C>G	ENST00000444376.2	-	12	2410	c.2176G>C	c.(2176-2178)Gga>Cga	p.G726R	HNRNPU_ENST00000283179.9_Missense_Mutation_p.G745R	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	745	Gly-rich.|RNA-binding RGG-box.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CCACCACTTCCTCCACCGCCA	0.507													30	110					0	0	0	0	G	245018845	C	G	245018845	3	3	222	1	0	0	0	0	1	0	0	0	7323	690	24	4	256	4	HNRNPU	1	245018845	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2765475	245018845	4231776	86	39724											
AHCTF1	25909	broad.mit.edu	37	chr1	247013403	247013403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgttttctaggtatggCagacatatcaaattctgctt	11	14	7	9	1	3	1	1	0	2	1	3	1	3	1	1	2	1	4	1	2	4	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:247013403C>A	ENST00000366508.1	-	33	6146	c.6010G>T	c.(6010-6012)Gcc>Tcc	p.A2004S	AHCTF1_ENST00000326225.3_Missense_Mutation_p.A1978S|AHCTF1_ENST00000391829.2_Missense_Mutation_p.A1969S|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1969	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTAGGTATGGCAGACATATCA	0.428													32	126					8.16721e-17	1.77821e-16	1	0	A	247013403	C	A	247013403	3	1	222	1	0	0	0	0	1	0	0	0	408	710	25	4	911	4	AHCTF1	1	247013403	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1994558	247013403	2237218	87	39725											
OR2C3	81472	broad.mit.edu	37	chr1	247695520	247695520	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatatagaactggaccacAcaccctccatagcttatggt	13	9	8	11	0	0	2	0	0	0	2	1	4	1	3	3	2	2	1	3	2	5	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:247695520A>T	ENST00000366487.3	-	2	655	c.294T>A	c.(292-294)tgT>tgA	p.C98*	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ACTGGACCACACACCCTCCAT	0.577													18	51					0	0	0	0	T	247695520	A	T	247695520	4	4	222	1	0	0	0	0	0	1	0	0	11064	157	6	5	672	5	OR2C3	1	247695520	Nonsense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	682117	247695520	1555101	88	39726											
OR2G3	81469	broad.mit.edu	37	chr1	247769112	247769112	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggacatctgcttcactacTagccttgctcctcagacctt	7	13	6	15	0	3	1	2	0	1	1	4	2	4	2	3	1	4	2	3	1	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:247769112T>C	ENST00000320002.2	+	1	257	c.225T>C	c.(223-225)acT>acC	p.T75T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCTTCACTACTAGCCTTGCTC	0.448													178	207					0	0	0	0	C	247769112	T	C	247769112	2	2	222	1	0	0	0	0	0	0	0	1	11070	1509	53	5		5	OR2G3	1	247769112	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	73592	247769112	1481509	89	39727											
OR13G1	441933	broad.mit.edu	37	chr1	247835616	247835616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagtaaagggtcaccactGtgagatgagatgagcatgtt	14	10	12	5	0	1	3	1	3	0	2	1	5	1	3	1	1	1	3	1	1	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:247835616G>T	ENST00000359688.2	-	1	749	c.728C>A	c.(727-729)aCa>aAa	p.T243K	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGTCACCACTGTGAGATGAGA	0.448													44	42					1.41504e-22	3.34977e-22	1	0	T	247835616	G	T	247835616	3	4	222	1	0	0	0	0	1	0	0	0	11013	1377	48	4	199	4	OR13G1	1	247835616	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	66504	247835616	1415005	90	39728											
OR14A16	284532	broad.mit.edu	37	chr1	247978277	247978277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcttcagataagcaatgaatCcagtggaaagaaataacaca	19	7	8	7	0	1	3	1	1	0	2	2	4	2	4	1	1	2	2	1	1	6	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:247978277C>T	ENST00000357627.1	-	1	754	c.755G>A	c.(754-756)gGa>gAa	p.G252E		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AGCAATGAATCCAGTGGAAAG	0.433													18	22					0	0	0	0	T	247978277	C	T	247978277	3	4	222	1	0	0	0	0	1	0	0	0	11016	855	30	2	178	2	OR14A16	1	247978277	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	142661	247978277	1272344	91	39729											
OR2T8	343172	broad.mit.edu	37	chr1	248084536	248084536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggacgtgatgctggttTccaccactgtgcccaaaatg	9	11	10	11	1	1	1	1	1	0	0	2	2	2	2	3	2	2	2	3	2	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:248084536T>C	ENST00000319968.4	+	1	217	c.217T>C	c.(217-219)Tcc>Ccc	p.S73P		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GATGCTGGTTTCCACCACTGT	0.572													6	129					0	0	0	0	C	248084536	T	C	248084536	3	2	222	1	0	0	0	0	1	0	0	0	11101	1783	62	5	219	5	OR2T8	1	248084536	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	106259	248084536	1166085	92	39730											
OR2AK2	391191	broad.mit.edu	37	chr1	248129117	248129117	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgcctcatggttgcaTgtgcatgggccagtggttct	4	14	13	10	0	3	0	1	0	2	0	3	0	3	0	2	3	4	5	2	3	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:248129117T>A	ENST00000366480.3	+	1	583	c.484T>A	c.(484-486)Tgt>Agt	p.C162S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATGGTTGCATGTGCATGGGC	0.413													111	148					0	0	0	0	A	248129117	T	A	248129117	3	1	222	1	0	0	0	0	1	0	0	0	11057	1464	51	5	486	5	OR2AK2	1	248129117	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	44581	248129117	1121504	93	39731											
OR2M5	127059	broad.mit.edu	37	chr1	248309365	248309365	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcactcaggaaagtgttaGgaaagggcaagtgtggagag	14	6	17	4	0	1	1	1	0	0	1	1	5	1	3	0	4	1	3	0	4	4	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:248309365G>T	ENST00000366476.1	+	1	916	c.916G>T	c.(916-918)Gga>Tga	p.G306*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GAAAGTGTTAGGAAAGGGCAA	0.443													38	52					1.57351e-24	3.77528e-24	1	0	T	248309365	G	T	248309365	4	4	222	1	0	0	0	0	0	1	0	0	11084	1001	35	4	918	4	OR2M5	1	248309365	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	180248	248309365	941256	94	39732											
OR2M3	127062	broad.mit.edu	37	chr1	248366631	248366631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccttcaactacctgtctGgcagcaagtccatttctatg	8	13	8	12	0	3	0	1	0	2	0	4	0	4	0	3	2	3	2	3	2	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:248366631G>T	ENST00000456743.1	+	1	300	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTACCTGTCTGGCAGCAAGTC	0.502													135	417					1.41203e-78	3.57677e-78	1	0	T	248366631	G	T	248366631	3	4	222	1	0	0	0	0	1	0	0	0	11082	1348	47	4	264	4	OR2M3	1	248366631	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	57266	248366631	883990	95	39733											
OR2M3	127062	broad.mit.edu	37	chr1	248366998	248366998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagtaatgattgttttccCtgttgcaatcatcattgctt	9	19	6	7	0	2	1	2	1	0	0	3	1	3	1	1	0	2	5	1	0	4	9			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:248366998C>A	ENST00000456743.1	+	1	667	c.629C>A	c.(628-630)cCt>cAt	p.P210H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTGTTTTCCCTGTTGCAATC	0.418													168	236					5.60145e-70	1.41705e-69	1	0	A	248366998	C	A	248366998	3	1	222	1	0	0	0	0	1	0	0	0	11082	681	24	4	631	4	OR2M3	1	248366998	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	367	248366998	883623	96	39734											
OR2T34	127068	broad.mit.edu	37	chr1	248737333	248737333	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggaggagcaggtggccaaGgccttcctgcggccggcggc	5	5	19	12	3	0	0	0	0	0	0	1	2	1	2	4	8	2	1	4	8	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:248737333G>A	ENST00000328782.2	-	1	747	c.726C>T	c.(724-726)gcC>gcT	p.A242A		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGTGGCCAAGGCCTTCCTGC	0.567													112	127					0	0	0	0	A	248737333	G	A	248737333	2	1	222	1	0	0	0	0	0	0	0	1	11096	987	35	4		4	OR2T34	1	248737333	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	370335	248737333	513288	97	39735											
OR2T11	127077	broad.mit.edu	37	chr1	248790227	248790227	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtggtacagatgaaaaggGtgtccatgatggacagctga	13	8	14	6	0	0	4	0	3	0	1	1	5	1	5	1	3	2	2	1	3	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:248790227G>C	ENST00000330803.2	-	1	264	c.203C>G	c.(202-204)aCc>aGc	p.T68S		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGAAAAGGGTGTCCATGAT	0.483													41	57					0	0	0	0	C	248790227	G	C	248790227	3	2	222	1	0	0	0	0	1	0	0	0	11089	1261	44	4	751	4	OR2T11	1	248790227	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	52894	248790227	460394	98	39736											
TPO	7173	broad.mit.edu	37	chr2	1480964	1480964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgctctttgggaacctgtCcacggccaacccgcggcagc	6	6	12	17	5	1	0	0	0	1	0	2	1	2	1	4	3	3	2	4	3	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:1480964C>A	ENST00000345913.4	+	8	1017	c.926C>A	c.(925-927)tCc>tAc	p.S309Y	TPO_ENST00000382201.3_Missense_Mutation_p.S309Y|TPO_ENST00000349624.3_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.S309Y|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.S309Y|TPO_ENST00000329066.4_Missense_Mutation_p.S309Y	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	309					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAACCTGTCCACGGCCAAC	0.706													9	25					7.48243e-07	1.30242e-06	1	0	A	1480964	C	A	1480964	3	1	222	1	0	0	0	0	1	0	0	0	16505	855	30	2	952	2	TPO	2	1480964	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08		1480964	241718409	99	39737											
PXDN	7837	broad.mit.edu	37	chr2	1658260	1658260	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagctacaaacggatctcCatttcgactgacgtcaggaa	12	9	10	10	3	2	1	1	1	1	0	4	4	2	3	1	3	3	2	1	3	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:1658260C>A	ENST00000252804.4	-	15	1908	c.1858G>T	c.(1858-1860)Gga>Tga	p.G620*		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	620					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AACGGATCTCCATTTCGACTG	0.428													15	32					7.93312e-07	1.37597e-06	1	0	A	1658260	C	A	1658260	4	1	222	1	0	0	0	0	0	1	0	0	12929	603	21	4	2617	4	PXDN	2	1658260	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	177296	1658260	241541113	100	39738											
PXDN	7837	broad.mit.edu	37	chr2	1680770	1680770	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagtacacggtgttcccCgaggtcacatctgcgtcctg	7	10	12	12	3	2	1	1	1	1	0	4	2	4	1	3	2	2	2	3	2	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:1680770C>T	ENST00000252804.4	-	8	827	c.777G>A	c.(775-777)tcG>tcA	p.S259S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	259	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGGTGTTCCCCGAGGTCACAT	0.532													6	14					0	0	0	0	T	1680770	C	T	1680770	2	4	222	1	0	0	0	0	0	0	0	1	12929	639	23	1		1	PXDN	2	1680770	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	22510	1680770	241518603	101	39739											
MYT1L	23040	broad.mit.edu	37	chr2	1890319	1890319	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaaatcttacttgagttcTtgggagctggtggccagcat	9	14	11	7	0	2	1	0	1	2	0	2	2	2	2	1	3	3	3	1	3	3	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:1890319T>A	ENST00000399161.2	-	18	3450	c.2703A>T	c.(2701-2703)caA>caT	p.Q901H	MYT1L_ENST00000428368.2_Missense_Mutation_p.Q899H	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	901					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACTTGAGTTCTTGGGAGCTGG	0.433													18	42					0	0	0	0	A	1890319	T	A	1890319	3	1	222	1	0	0	0	0	1	0	0	0	10177	1606	56	5	889	5	MYT1L	2	1890319	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	209549	1890319	241309054	102	39740											
MYT1L	23040	broad.mit.edu	37	chr2	1914014	1914014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcactcctgctgggtacctGagcacgcggtccgaggcctg	5	8	14	14	3	0	1	0	1	0	0	2	2	2	1	4	3	4	4	4	3	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:1914014G>A	ENST00000399161.2	-	13	2562	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	MYT1L_ENST00000428368.2_Silent_p.L603L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	605					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTGGGTACCTGAGCACGCGGT	0.637													5	37					0	0	0	0	A	1914014	G	A	1914014	2	1	222	1	0	0	0	0	0	0	0	1	10177	1277	45	2		2	MYT1L	2	1914014	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	23695	1914014	241285359	103	39741											
ADAM17	6868	broad.mit.edu	37	chr2	9666299	9666299	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtatctgtagaagcgatgatCtgctaccaccaataatttac	13	12	7	9	1	2	2	0	1	2	1	2	3	2	2	2	0	4	3	2	0	7	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:9666299C>G	ENST00000310823.3	-	6	876	c.694G>C	c.(694-696)Gat>Cat	p.D232H	ADAM17_ENST00000497134.1_Missense_Mutation_p.D232H	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	232	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		AAGCGATGATCTGCTACCACC	0.358													35	92					0	0	0	0	G	9666299	C	G	9666299	3	3	222	1	0	0	0	0	1	0	0	0	238	913	32	2	1836	2	ADAM17	2	9666299	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	7752285	9666299	233533074	104	39742											
GREB1	9687	broad.mit.edu	37	chr2	11702672	11702672	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccccaaaccctttccagCtgcaccctctgcctgaagga	8	7	7	19	0	1	1	0	1	1	0	2	2	2	2	7	1	4	2	7	1	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:11702672C>G	ENST00000381486.2	+	3	541	c.241C>G	c.(241-243)Ctg>Gtg	p.L81V	GREB1_ENST00000263834.5_Missense_Mutation_p.L81V|GREB1_ENST00000234142.5_Missense_Mutation_p.L81V|GREB1_ENST00000389825.3_5'UTR|GREB1_ENST00000381483.2_Missense_Mutation_p.L81V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	81						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCCTTTCCAGCTGCACCCTCT	0.612													29	87					0	0	0	0	G	11702672	C	G	11702672	3	3	222	1	0	0	0	0	1	0	0	0	6810	796	28	4	247	4	GREB1	2	11702672	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2036373	11702672	231496701	105	39743											
NBAS	51594	broad.mit.edu	37	chr2	15470842	15470842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcatggtggtagcagtggtCcagcgcaataggtcagctga	9	10	14	8	1	2	1	2	1	0	0	3	1	3	1	1	4	3	4	1	4	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:15470842C>A	ENST00000281513.5	-	36	4252	c.4227G>T	c.(4225-4227)tgG>tgT	p.W1409C	NBAS_ENST00000441750.1_Missense_Mutation_p.W1289C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1409										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAGCAGTGGTCCAGCGCAATA	0.468													19	57					2.4624e-09	4.57135e-09	1	0	A	15470842	C	A	15470842	3	1	222	1	0	0	0	0	1	0	0	0	10256	856	30	2	2956	2	NBAS	2	15470842	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3768170	15470842	227728531	106	39744											
APOB	338	broad.mit.edu	37	chr2	21230042	21230042	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgagatttttcagctttgTacttatcaaacttaattttt	10	20	5	6	1	2	1	2	1	0	1	2	2	2	1	0	0	3	2	0	0	4	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:21230042T>C	ENST00000233242.1	-	26	9825	c.9698A>G	c.(9697-9699)tAc>tGc	p.Y3233C		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3233	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCAGCTTTGTACTTATCAAA	0.363													19	27					0	0	0	0	C	21230042	T	C	21230042	3	2	222	1	0	0	0	0	1	0	0	0	787	1638	57	5	4009	5	APOB	2	21230042	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	5759200	21230042	221969331	107	39745											
APOB	338	broad.mit.edu	37	chr2	21235485	21235485	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccatcatatgatagtgTgaacgtattcttgtggtcat	11	14	9	7	1	3	3	2	2	1	1	3	3	3	3	1	1	1	1	1	1	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:21235485T>A	ENST00000233242.1	-	26	4382	c.4255A>T	c.(4255-4257)Aca>Tca	p.T1419S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1419					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.T1419A(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TATGATAGTGTGAACGTATTC	0.343													9	45					0	0	0	0	A	21235485	T	A	21235485	3	1	222	1	0	0	0	0	1	0	0	0	787	1696	59	5	9452	5	APOB	2	21235485	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	5443	21235485	221963888	108	39746											
C2orf53	339779	broad.mit.edu	37	chr2	27360306	27360306	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaggcaggcggaggccgaAgccgatgcctatccggagtg	8	5	17	11	4	0	1	0	1	0	0	1	5	1	3	4	5	2	1	4	5	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:27360306A>T	ENST00000335524.3	-	3	1417	c.892T>A	c.(892-894)Ttc>Atc	p.F298I		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	298										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGAGGCCGAAGCCGATGCCT	0.657													15	36					0	0	0	0	T	27360306	A	T	27360306	3	4	222	1	0	0	0	0	1	0	0	0	2194	72	3	5	350	5	C2orf53	2	27360306	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	6124821	27360306	215839067	109	39747											
TRMT61B	55006	broad.mit.edu	37	chr2	29092590	29092590	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttgccgaacgggactgccCcccagttactatttaagagt	9	11	9	12	2	1	1	0	0	1	1	1	3	1	2	4	1	4	1	4	1	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:29092590C>A	ENST00000306108.5	-	1	577	c.554G>T	c.(553-555)gGg>gTg	p.G185V		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	185							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CGGGACTGCCCCCCAGTTACT	0.498													33	91					2.68265e-12	5.26554e-12	1	0	A	29092590	C	A	29092590	3	1	222	1	0	0	0	0	1	0	0	0	16665	623	22	4	907	4	TRMT61B	2	29092590	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1732284	29092590	214106783	110	39748											
WDR43	23160	broad.mit.edu	37	chr2	29158393	29158393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttattttctcacagaaagtaCttcaaactaggaatgtaaac	16	13	5	7	0	2	1	2	0	1	1	3	2	2	2	0	1	3	2	0	1	8	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:29158393C>T	ENST00000407426.3	+	12	1500	c.1444C>T	c.(1444-1446)Ctt>Ttt	p.L482F		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	482						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					ACAGAAAGTACTTCAAACTAG	0.318													10	39					0	0	0	0	T	29158393	C	T	29158393	3	4	222	1	0	0	0	0	1	0	0	0	17391	565	20	4	1490	4	WDR43	2	29158393	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	65803	29158393	214040980	111	39749											
CAPN13	92291	broad.mit.edu	37	chr2	30959385	30959385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacctggtagtgaacaaggCgcttccacagtcgcgcaaac	11	7	11	12	3	0	1	0	1	0	0	2	1	1	1	2	2	3	4	2	2	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:30959385C>G	ENST00000295055.8	-	18	1882	c.1706G>C	c.(1705-1707)cGc>cCc	p.R569P	CAPN13_ENST00000534090.2_Missense_Mutation_p.R569P	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	569	EF-hand 1.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.R569H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GTGAACAAGGCGCTTCCACAG	0.532													23	46					0	0	0	0	G	30959385	C	G	30959385	3	3	222	1	0	0	0	0	1	0	0	0	2651	768	27	3	323	3	CAPN13	2	30959385	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1800992	30959385	212239988	112	39750											
NLRC4	58484	broad.mit.edu	37	chr2	32474682	32474682	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatttacaatacccggcaGccgttgattctgtaggtcat	10	13	9	9	2	2	1	1	1	1	0	2	2	2	1	2	2	3	3	2	2	5	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:32474682G>A	ENST00000404025.2	-	5	2739	c.2251C>T	c.(2251-2253)Ctg>Ttg	p.L751L	NLRC4_ENST00000360906.5_Silent_p.L751L|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.L751L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	751					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATACCCGGCAGCCGTTGATTC	0.393													69	184					0	0	0	0	A	32474682	G	A	32474682	2	1	222	1	0	0	0	0	0	0	0	1	10539	962	34	4		4	NLRC4	2	32474682	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1515297	32474682	210724691	113	39751											
NLRC4	58484	broad.mit.edu	37	chr2	32475967	32475967	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggatttctgaatttggagCaacaagccttcagcaagctc	11	11	9	10	0	2	1	1	1	1	0	3	3	2	3	1	2	5	3	1	2	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:32475967C>T	ENST00000404025.2	-	5	1454	c.966G>A	c.(964-966)ttG>ttA	p.L322L	NLRC4_ENST00000360906.5_Silent_p.L322L|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.L322L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	322	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAATTTGGAGCAACAAGCCTT	0.507													18	51					0	0	0	0	T	32475967	C	T	32475967	2	4	222	1	0	0	0	0	0	0	0	1	10539	709	25	4		4	NLRC4	2	32475967	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1285	32475967	210723406	114	39752											
LTBP1	4052	broad.mit.edu	37	chr2	33540329	33540329	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctgcagatggccgtacGtgtgaaggtaagataaacca	13	9	11	8	2	1	3	0	1	1	2	2	3	1	3	2	2	3	3	2	2	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:33540329G>A	ENST00000404816.2	+	24	4076	c.3723G>A	c.(3721-3723)acG>acA	p.T1241T	LTBP1_ENST00000390003.4_Silent_p.T916T|LTBP1_ENST00000354476.3_Silent_p.T1242T|LTBP1_ENST00000404525.1_Silent_p.T862T|LTBP1_ENST00000402934.1_Silent_p.T862T|LTBP1_ENST00000418533.2_Silent_p.T915T|LTBP1_ENST00000272273.5_Silent_p.T181T|LTBP1_ENST00000407925.1_Silent_p.T915T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1241	EGF-like 12; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATGGCCGTACGTGTGAAGGTA	0.448													13	31					0	0	0	0	A	33540329	G	A	33540329	2	1	222	1	0	0	0	0	0	0	0	1	9137	1132	40	1		1	LTBP1	2	33540329	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1064362	33540329	209659044	115	39753											
RASGRP3	25780	broad.mit.edu	37	chr2	33741637	33741637	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagagctggataatagttaTttgccaagaatagttctact	13	13	10	5	0	1	2	0	0	1	2	1	4	1	3	1	2	3	3	1	2	7	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:33741637T>C	ENST00000403687.3	+	4	839	c.99T>C	c.(97-99)taT>taC	p.Y33Y	RASGRP3_ENST00000407811.1_Silent_p.Y33Y|RASGRP3_ENST00000402538.3_Silent_p.Y33Y	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	33	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATAATAGTTATTTGCCAAGAA	0.328													2	9					0	0	0	0	C	33741637	T	C	33741637	2	2	222	1	0	0	0	0	0	0	0	1	13158	1500	52	5		5	RASGRP3	2	33741637	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	201308	33741637	209457736	116	39754											
SLC8A1	6546	broad.mit.edu	37	chr2	40656936	40656936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaccgaggtctcctgcaGtgaagttatggccacacact	10	9	11	11	1	1	1	0	1	1	0	2	3	1	2	3	3	1	2	3	3	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:40656936G>T	ENST00000406785.1	-	2	674	c.485C>A	c.(484-486)aCt>aAt	p.T162N	SLC8A1_ENST00000542756.1_Missense_Mutation_p.T162N|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T162N|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T162N|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T162N|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T162N|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T162N|SLC8A1_ENST00000403092.1_Missense_Mutation_p.T162N|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T162N|SLC8A1_ENST00000332839.4_Missense_Mutation_p.T162N			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	162					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	GTCTCCTGCAGTGAAGTTATG	0.468													20	57					1.56452e-12	3.09263e-12	1	0	T	40656936	G	T	40656936	3	4	222	1	0	0	0	0	1	0	0	0	14794	1029	36	4	2584	4	SLC8A1	2	40656936	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	6915299	40656936	202542437	117	39755											
NRXN1	9378	broad.mit.edu	37	chr2	50779852	50779852	+	Silent	SNP	C	C	T																															tagaggtggccatctagcatCtcaatagcaaagaagtccac																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:50779852C>T	ENST00000404971.1	-	10	3091	c.1752G>A	c.(1750-1752)gaG>gaA	p.E584E	NRXN1_ENST00000401669.2_Silent_p.E544E|NRXN1_ENST00000406316.2_Silent_p.E544E|NRXN1_ENST00000402717.3_Silent_p.E536E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.E544E|NRXN1_ENST00000405472.3_Silent_p.E536E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	544	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATCTAGCATCTCAATAGCAA	0.448													30	73					0	0	0	0	T	50779852	C	T	50779852	2	4	222	1	0	0	0	0	0	0	0	1	10736	912	32	2		2	NRXN1	2	50779852	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	10122916	50779852	192419521	118	39756	296	2									
NRXN1	9378	broad.mit.edu	37	chr2	50779857	50779857	+	Missense_Mutation	SNP	T	T	C																															gtggccatctagcatctcaaTagcaaagaagtccaccttta																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:50779857T>C	ENST00000404971.1	-	10	3086	c.1747A>G	c.(1747-1749)Att>Gtt	p.I583V	NRXN1_ENST00000401669.2_Missense_Mutation_p.I543V|NRXN1_ENST00000406316.2_Missense_Mutation_p.I543V|NRXN1_ENST00000402717.3_Missense_Mutation_p.I535V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.I543V|NRXN1_ENST00000405472.3_Missense_Mutation_p.I535V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	543	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGCATCTCAATAGCAAAGAAG	0.443													27	79					0	0	0	0	C	50779857	T	C	50779857	3	2	222	1	0	0	0	0	1	0	0	0	10736	1406	49	5	3219	5	NRXN1	2	50779857	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	5	50779857	192419516	119	39757	296	2									
NRXN1	9378	broad.mit.edu	37	chr2	51254661	51254661	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgcagtccttgccgcGgaagccggttcgcgagcagt	5	9	15	12	5	0	0	0	0	0	0	2	2	1	1	3	3	4	4	3	3	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:51254661G>T	ENST00000404971.1	-	2	2090	c.751C>A	c.(751-753)Cgc>Agc	p.R251S	NRXN1_ENST00000401669.2_Missense_Mutation_p.R251S|NRXN1_ENST00000406316.2_Missense_Mutation_p.R251S|NRXN1_ENST00000402717.3_Missense_Mutation_p.R251S|NRXN1_ENST00000406859.3_Missense_Mutation_p.R251S|NRXN1_ENST00000405581.1_Missense_Mutation_p.R251S|NRXN1_ENST00000405472.3_Missense_Mutation_p.R251S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	251	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCCTTGCCGCGGAAGCCGGTT	0.751													5	30					0.000602214	0.000964828	1	0	T	51254661	G	T	51254661	3	4	222	1	0	0	0	0	1	0	0	0	10736	1116	39	3	4247	3	NRXN1	2	51254661	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	474804	51254661	191944712	120	39758											
NRXN1	9378	broad.mit.edu	37	chr2	51254722	51254722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacggagcacacacctccGttgaggcacaccccgccctc	9	4	8	20	3	0	1	0	1	0	0	2	2	1	2	6	2	1	3	6	2	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:51254722G>T	ENST00000404971.1	-	2	2029	c.690C>A	c.(688-690)aaC>aaA	p.N230K	NRXN1_ENST00000401669.2_Missense_Mutation_p.N230K|NRXN1_ENST00000406316.2_Missense_Mutation_p.N230K|NRXN1_ENST00000402717.3_Missense_Mutation_p.N230K|NRXN1_ENST00000406859.3_Missense_Mutation_p.N230K|NRXN1_ENST00000405581.1_Missense_Mutation_p.N230K|NRXN1_ENST00000405472.3_Missense_Mutation_p.N230K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	230	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACACACCTCCGTTGAGGCACA	0.711													11	15					4.68919e-08	8.41727e-08	1	0	T	51254722	G	T	51254722	3	4	222	1	0	0	0	0	1	0	0	0	10736	1136	40	3	4308	3	NRXN1	2	51254722	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	61	51254722	191944651	121	39759											
CCDC104	112942	broad.mit.edu	37	chr2	55756024	55756024	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccacaggccattttgcAacctgtgttggcagcagaag	9	11	10	11	0	0	1	0	0	0	1	1	1	1	1	3	2	3	4	3	2	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:55756024A>T	ENST00000349456.4	+	4	441	c.293A>T	c.(292-294)cAa>cTa	p.Q98L	CCDC104_ENST00000407816.3_Missense_Mutation_p.Q98L|CCDC104_ENST00000339012.3_Missense_Mutation_p.Q123L|CCDC104_ENST00000406691.3_Missense_Mutation_p.Q98L|CCDC104_ENST00000403007.3_Missense_Mutation_p.Q98L			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	98										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCCATTTTGCAACCTGTGTTG	0.363													5	34					0	0	0	0	T	55756024	A	T	55756024	3	4	222	1	0	0	0	0	1	0	0	0	2764	130	5	5	307	5	CCDC104	2	55756024	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	4501302	55756024	187443349	122	39760											
OTX1	5013	broad.mit.edu	37	chr2	63283445	63283446	+	Frame_Shift_Ins	INS	-	-	T																															cctcatggcggttccaggtcINSttgtgagcccaggaatgaaa																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:63283445_63283446insT	ENST00000366671.3	+	5	1335_1336	c.1059_1060insT	c.(1057-1062)gttgtgfs	p.V354fs	OTX1_ENST00000282549.2_Frame_Shift_Ins_p.V354fs	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	354						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GGTTCCAGGTCTTGTGAGCCCA	0.604													15	42	---	---	---	---					T	63283446	-	T	63283445	7	5	222	1	0	1	1	0	0	0	0	0	11391	900	32	0	1069	0	OTX1	2	63283445	Frame_Shift_Ins	INS	-	TCGA-CR-7402-01A-11D-2012-08	7527421	63283445	179915928	123	39761											
MEIS1	4211	broad.mit.edu	37	chr2	66664968	66664968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatgcagccggtccacCacctgaaccacgggcctcct	7	6	10	18	2	0	1	0	1	0	0	3	1	3	1	8	3	3	1	8	3	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:66664968C>T	ENST00000488550.1	+	2	411	c.112C>T	c.(112-114)Cac>Tac	p.H38Y	MEIS1_ENST00000407092.2_Missense_Mutation_p.H38Y|MEIS1_ENST00000444274.2_Missense_Mutation_p.H6Y|MEIS1_ENST00000272369.9_Missense_Mutation_p.H38Y|MEIS1_ENST00000560281.2_Missense_Mutation_p.H38Y|MEIS1_ENST00000398506.2_Missense_Mutation_p.H36Y			O00470	MEIS1_HUMAN	Meis homeobox 1	38							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GCCGGTCCACCACCTGAACCA	0.612													7	25					0	0	0	0	T	66664968	C	T	66664968	3	4	222	1	0	0	0	0	1	0	0	0	9536	594	21	4	118	4	MEIS1	2	66664968	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3381523	66664968	176534405	124	39762											
ANXA4	307	broad.mit.edu	37	chr2	70015233	70015233	+	Frame_Shift_Del	DEL	G	G	-																															gcttcaggattcaatgccatGgaagatgcccagaccctgag																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:70015233delG	ENST00000394295.4	+	3	305	c.57delG	c.(55-57)atfs	p.M19fs	ANXA4_ENST00000409920.1_Frame_Shift_Del_p.M19fs|ANXA4_ENST00000536030.1_Intron	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	17					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TCAATGCCATGGAAGATGCCC	0.532													33	90	---	---	---	---					-	70015233	G	-	70015233	7	5	222	1	0	1	0	1	0	0	0	0	719	1348	47	0	63	0	ANXA4	2	70015233	Frame_Shift_Del	DEL	G	TCGA-CR-7402-01A-11D-2012-08	3350265	70015233	173184140	125	39763											
DYSF	8291	broad.mit.edu	37	chr2	71797809	71797809	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagatgtactacacacacCgacggcggcgctgggtgcgc	10	5	14	12	5	0	2	0	0	0	2	0	3	0	2	1	3	3	2	1	3	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:71797809C>T	ENST00000258104.3	+	29	3389	c.3112C>T	c.(3112-3114)Cga>Tga	p.R1038*	DYSF_ENST00000410020.3_Nonsense_Mutation_p.R1056*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.R1055*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.R1055*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.R1056*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.R1039*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.R1039*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.R1038*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.R1070*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.R1069*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.R1025*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1038	Arg-rich.		R -> Q (in LGMD2B; uncertain pathogenicity).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTACACACACCGACGGCGGCG	0.642													14	32					0	0	0	0	T	71797809	C	T	71797809	4	4	222	1	0	0	0	0	0	1	0	0	4895	644	23	1	3418	1	DYSF	2	71797809	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1782576	71797809	171401564	126	39764											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73315415	73315415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttctctgccacagcctcaGaggaggccactatgggtgtg	7	9	12	13	0	2	1	1	0	1	1	3	2	2	2	4	3	2	0	4	3	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:73315415G>A	ENST00000258098.6	-	3	1571	c.1331C>T	c.(1330-1332)tCt>tTt	p.S444F	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	444					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CACAGCCTCAGAGGAGGCCAC	0.657													39	88					0	0	0	0	A	73315415	G	A	73315415	3	1	222	1	0	0	0	0	1	0	0	0	12979	942	33	2	642	2	RAB11FIP5	2	73315415	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1517606	73315415	169883958	127	39765											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73315801	73315801	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagggcccgaggaggagcCactcgcatctggttggcctc	8	6	15	12	2	1	1	0	0	1	1	3	4	1	3	3	5	1	2	3	5	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:73315801C>G	ENST00000258098.6	-	3	1185	c.945G>C	c.(943-945)gtG>gtC	p.V315V	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	315					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GAGGAGGAGCCACTCGCATCT	0.592													6	23					0	0	0	0	G	73315801	C	G	73315801	2	3	222	1	0	0	0	0	0	0	0	1	12979	581	21	4		4	RAB11FIP5	2	73315801	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	386	73315801	169883572	128	39766											
CCDC142	84865	broad.mit.edu	37	chr2	74709692	74709692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccgcagcaacaccgcccgGagacgctgcagcgcgggagg	9	1	16	15	6	0	1	0	0	0	1	0	3	0	2	3	3	5	4	3	3	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:74709692G>A	ENST00000393965.3	-	1	669	c.273C>T	c.(271-273)ctC>ctT	p.L91L	CCDC142_ENST00000471713.1_Intron|CCDC142_ENST00000290418.4_Silent_p.L91L	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	91										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						ACACCGCCCGGAGACGCTGCA	0.716													7	8					0	0	0	0	A	74709692	G	A	74709692	2	1	222	1	0	0	0	0	0	0	0	1	2801	1161	41	2		2	CCDC142	2	74709692	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1393891	74709692	168489681	129	39767											
AUP1	550	broad.mit.edu	37	chr2	74754875	74754875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacatacctgactgggggcGcaatctggggtgtctttgtc	6	11	13	11	1	2	1	0	1	2	0	3	1	2	1	2	4	1	1	2	4	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:74754875G>A	ENST00000377526.3	-	8	1138	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	343						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						GACTGGGGGCGCAATCTGGGG	0.512													50	129					0	0	0	0	A	74754875	G	A	74754875	3	1	222	1	0	0	0	0	1	0	0	0	1224	1087	38	1	423	1	AUP1	2	74754875	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	45183	74754875	168444498	130	39768											
LRRTM4	80059	broad.mit.edu	37	chr2	77746849	77746849	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatatctgcgaaagcatgaGactcacagtacacaattttg	14	10	9	8	1	2	1	1	1	1	1	2	4	2	2	0	1	3	2	0	1	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:77746849G>T	ENST00000409088.3	-	3	560	c.146C>A	c.(145-147)tCt>tAt	p.S49Y	LRRTM4_ENST00000409282.1_Missense_Mutation_p.S50Y|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S49Y|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S49Y|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S50Y	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	49	LRRNT.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GAAAGCATGAGACTCACAGTA	0.463													27	72					1.17739e-12	2.33447e-12	1	0	T	77746849	G	T	77746849	3	4	222	1	0	0	0	0	1	0	0	0	9106	942	33	2	1640	2	LRRTM4	2	77746849	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2991974	77746849	165452524	131	39769											
CTNNA2	1496	broad.mit.edu	37	chr2	80136847	80136847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcacgcgagacgaccGgcgcgagaggatcgtggcgg	7	4	17	13	8	0	2	0	0	0	2	2	6	1	3	2	4	1	1	2	4	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:80136847G>T	ENST00000466387.1	+	11	1704	c.980G>T	c.(979-981)cGg>cTg	p.R327L	CTNNA2_ENST00000402739.4_Missense_Mutation_p.R327L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R327L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R327L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R361L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R327L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	327					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGAGACGACCGGCGCGAGAGG	0.637													33	74					5.8336e-16	1.25751e-15	1	0	T	80136847	G	T	80136847	3	4	222	1	0	0	0	0	1	0	0	0	4045	1116	39	3		3	CTNNA2	2	80136847	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2389998	80136847	163062526	132	39770											
CTNNA2	1496	broad.mit.edu	37	chr2	80816527	80816527	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctggatgcagaagtggcCaaatgggacgacagcggcaa	14	4	15	8	2	0	1	0	0	0	1	0	4	0	3	1	4	3	3	1	4	4	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:80816527C>G	ENST00000466387.1	+	19	2830	c.2106C>G	c.(2104-2106)gcC>gcG	p.A702A	AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000402739.4_Silent_p.A702A|CTNNA2_ENST00000541047.1_Silent_p.A702A|CTNNA2_ENST00000496558.1_Silent_p.A702A|CTNNA2_ENST00000361291.4_Silent_p.A736A|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000540488.1_Silent_p.A702A|CTNNA2_ENST00000343114.3_Silent_p.A381A|AC008067.2_ENST00000596887.1_RNA			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	702					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAGAAGTGGCCAAATGGGACG	0.498													35	57					0	0	0	0	G	80816527	C	G	80816527	2	3	222	1	0	0	0	0	0	0	0	1	4045	581	21	4		4	CTNNA2	2	80816527	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	679680	80816527	162382846	133	39771											
PTCD3	55037	broad.mit.edu	37	chr2	86350830	86350830	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attattcatttcaggaagagGaaaatgatgagacatctagg	16	11	10	4	0	3	3	2	2	1	2	3	6	3	5	0	3	0	0	0	3	5	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:86350830G>T	ENST00000254630.7	+	9	727	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	PTCD3_ENST00000409277.3_Missense_Mutation_p.R179S	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	221						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TCAGGAAGAGGAAAATGATGA	0.383													14	36					3.27435e-08	5.90472e-08	1	0	T	86350830	G	T	86350830	4	4	222	1	0	0	0	0	0	1	0	0	12808	1175	41	2	695	2	PTCD3	2	86350830	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5534303	86350830	156848543	134	39772											
ADRA2B	151	broad.mit.edu	37	chr2	96780851	96780851	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcccacctatagcaccCacgcccctgcccaggagcac	9	4	7	21	1	0	0	0	0	0	0	0	1	0	1	6	1	4	2	6	1	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:96780851C>A	ENST00000409345.3	-	1	1133	c.1038G>T	c.(1036-1038)gtG>gtT	p.V346V		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	349					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CTATAGCACCCACGCCCCTGC	0.677													7	16					0.00198382	0.0031448	1	0	A	96780851	C	A	96780851	2	1	222	1	0	0	0	0	0	0	0	1	338	581	21	4		4	ADRA2B	2	96780851	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	10430021	96780851	146418522	135	39773											
NCAPH	23397	broad.mit.edu	37	chr2	97008569	97008569	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttcttaaacagaaagacaccGaaccaaccaactttaaagta	19	8	4	10	1	1	2	0	0	1	2	1	3	1	2	3	0	4	1	3	0	9	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:97008569G>C	ENST00000455200.1	+	4	701	c.406G>C	c.(406-408)Gaa>Caa	p.E136Q	NCAPH_ENST00000240423.4_Missense_Mutation_p.E147Q|NCAPH_ENST00000427946.1_Missense_Mutation_p.E11Q			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	147					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GAAAGACACCGAACCAACCAA	0.353													14	37					0	0	0	0	C	97008569	G	C	97008569	3	2	222	1	0	0	0	0	1	0	0	0	10279	1059	37	3	453	3	NCAPH	2	97008569	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	227718	97008569	146190804	136	39774											
FER1L5	90342	broad.mit.edu	37	chr2	97370351	97370351	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacctaaagcctacaatagaCcatgagtggaaactccaccc	16	6	6	13	0	0	2	0	1	0	1	1	3	1	3	5	1	4	0	5	1	7	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:97370351C>A	ENST00000457909.1	+	0	5599							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CTACAATAGACCATGAGTGGA	0.463													31	83					1.74807e-11	3.40377e-11	1	0	A	97370351	C	A	97370351	1	1	222	0	1	0	0	0	0	0	0	0	5859	506	18	4		4	FER1L5	2	97370351	RNA	SNP	C	TCGA-CR-7402-01A-11D-2012-08	361782	97370351	145829022	137	39775											
INPP4A	3631	broad.mit.edu	37	chr2	99179952	99179952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagtgaggccctttaccCgctgctgaccactctcaccg	7	9	10	15	2	1	2	1	2	1	0	2	3	1	3	4	2	2	2	4	2	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:99179952C>T	ENST00000074304.5	+	19	2288	c.1895C>T	c.(1894-1896)cCg>cTg	p.P632L	INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Missense_Mutation_p.P593L|INPP4A_ENST00000545415.1_Missense_Mutation_p.P593L|INPP4A_ENST00000409540.3_Missense_Mutation_p.P593L|INPP4A_ENST00000523221.1_Missense_Mutation_p.P632L|INPP4A_ENST00000409851.3_Missense_Mutation_p.P627L	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	632					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GCCCTTTACCCGCTGCTGACC	0.532													9	29					0	0	0	0	T	99179952	C	T	99179952	3	4	222	1	0	0	0	0	1	0	0	0	7805	652	23	1	1961	1	INPP4A	2	99179952	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1809601	99179952	144019421	138	39776											
CREG2	200407	broad.mit.edu	37	chr2	102000150	102000150	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggcaggcagttcccaaaTggcagtccttggatctaaca	11	8	11	11	1	1	0	0	0	1	0	3	1	3	1	2	4	1	4	2	4	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:102000150T>C	ENST00000324768.4	-	2	593	c.456A>G	c.(454-456)ccA>ccG	p.P152P	CREG2_ENST00000495455.1_5'UTR	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	152						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGTTCCCAAATGGCAGTCCTT	0.512													34	77					0	0	0	0	C	102000150	T	C	102000150	2	2	222	1	0	0	0	0	0	0	0	1	3895	1451	51	5		5	CREG2	2	102000150	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2820198	102000150	141199223	139	39777											
MFSD9	84804	broad.mit.edu	37	chr2	103353142	103353142	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacagagcaggaagcggCgggctccgacggcaccggag	11	1	18	11	5	0	2	0	0	0	2	1	6	1	4	2	5	2	3	2	5	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:103353142C>G	ENST00000258436.5	-	1	171	c.128G>C	c.(127-129)cGc>cCc	p.R43P		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	43					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CAGGAAGCGGCGGGCTCCGAC	0.672													14	42					0	0	0	0	G	103353142	C	G	103353142	3	3	222	1	0	0	0	0	1	0	0	0	9608	768	27	3	1320	3	MFSD9	2	103353142	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1352992	103353142	139846231	140	39778											
UXS1	80146	broad.mit.edu	37	chr2	106739524	106739524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgtggccccagtaatcctCactttgagggtggacttcag	8	10	11	12	1	2	1	2	1	0	0	3	2	3	2	3	3	0	1	3	3	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:106739524C>T	ENST00000283148.7	-	9	758	c.661G>A	c.(661-663)Gag>Aag	p.E221K	UXS1_ENST00000428048.2_Missense_Mutation_p.E60K|UXS1_ENST00000409032.1_Missense_Mutation_p.E48K|UXS1_ENST00000540130.1_Missense_Mutation_p.E159K|UXS1_ENST00000409501.3_Missense_Mutation_p.E216K	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	216					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CAGTAATCCTCACTTTGAGGG	0.453													25	62					0	0	0	0	T	106739524	C	T	106739524	3	4	222	1	0	0	0	0	1	0	0	0	17205	835	29	2	644	2	UXS1	2	106739524	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3386382	106739524	136459849	141	39779											
SULT1C3	442038	broad.mit.edu	37	chr2	108863754	108863754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgatattatcaaaagaatGgtgggaaaaagtatgtaatt	17	13	10	1	0	1	2	1	1	0	1	1	3	1	3	0	2	0	3	0	2	9	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:108863754G>T	ENST00000329106.2	+	1	104	c.104G>T	c.(103-105)tGg>tTg	p.W35L	SULT1C3_ENST00000376700.1_Missense_Mutation_p.W35L	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	35						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TCAAAAGAATGGTGGGAAAAA	0.378													18	53					3.99206e-14	8.22414e-14	1	0	T	108863754	G	T	108863754	3	4	222	1	0	0	0	0	1	0	0	0	15468	1357	47	4	106	4	SULT1C3	2	108863754	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2124230	108863754	134335619	142	39780											
FBLN7	129804	broad.mit.edu	37	chr2	112944822	112944822	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctgaagacgcccatcacGctcttccgcatggccacagc	10	6	8	17	3	2	2	1	1	1	1	3	2	3	2	4	1	2	2	4	1	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:112944822G>T	ENST00000331203.2	+	8	1330	c.1059G>T	c.(1057-1059)acG>acT	p.T353T	FBLN7_ENST00000409667.3_Silent_p.T219T|FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409450.3_Silent_p.T307T	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	353					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGCCCATCACGCTCTTCCGCA	0.647													38	103					4.14481e-20	9.48981e-20	1	0	T	112944822	G	T	112944822	2	4	222	1	0	0	0	0	0	0	0	1	5746	1074	38	3		3	FBLN7	2	112944822	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4081068	112944822	130254551	143	39781											
FBLN7	129804	broad.mit.edu	37	chr2	112945094	112945094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacttctgagggtacacagGggcactggggtgtggagagc	8	8	18	7	0	1	3	0	2	1	1	1	4	1	3	0	6	2	2	0	6	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:112945094G>A	ENST00000409903.1	+	8	1308	c.1078G>A	c.(1078-1080)Ggg>Agg	p.G360R	FBLN7_ENST00000331203.2_3'UTR|FBLN7_ENST00000409667.3_3'UTR|FBLN7_ENST00000409450.3_3'UTR			Q53RD9	FBLN7_HUMAN	fibulin 7	0					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGTACACAGGGGCACTGGGG	0.607													39	111					0	0	0	0	A	112945094	G	A	112945094	3	1	222	1	0	0	0	0	1	0	0	0	5746	1247	43	4		4	FBLN7	2	112945094	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	272	112945094	130254279	144	39782											
SLC35F5	80255	broad.mit.edu	37	chr2	114503857	114503857	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaaagaagcacttaccaaAgaactattcatagttgtatc	18	10	6	7	0	1	3	1	0	0	3	2	3	1	3	1	0	3	3	1	0	9	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:114503857A>T	ENST00000245680.2	-	5	890	c.477T>A	c.(475-477)tcT>tcA	p.S159S	SLC35F5_ENST00000409342.1_Silent_p.S153S	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	159					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CACTTACCAAAGAACTATTCA	0.378													16	39					0	0	0	0	T	114503857	A	T	114503857	2	4	222	1	0	0	0	0	0	0	0	1	14680	59	3	5		5	SLC35F5	2	114503857	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1558763	114503857	128695516	145	39783											
STEAP3	55240	broad.mit.edu	37	chr2	120003239	120003239	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcttcaaagtggtggTggggagccgcaaccccaaac	9	7	13	12	1	2	0	1	0	1	0	2	1	2	1	3	5	3	2	3	5	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:120003239T>A	ENST00000354888.5	+	3	671	c.167T>A	c.(166-168)gTg>gAg	p.V56E	STEAP3_ENST00000450943.2_Missense_Mutation_p.V56E|STEAP3_ENST00000425223.2_Missense_Mutation_p.V56E|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000409811.1_Missense_Mutation_p.V56E|STEAP3_ENST00000393107.2_Missense_Mutation_p.V56E|STEAP3_ENST00000393108.2_Missense_Mutation_p.V56E|STEAP3_ENST00000393110.2_Missense_Mutation_p.V66E|STEAP3_ENST00000393106.2_Missense_Mutation_p.V56E	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	56					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						AAAGTGGTGGTGGGGAGCCGC	0.637													11	31					0	0	0	0	A	120003239	T	A	120003239	3	1	222	1	0	0	0	0	1	0	0	0	15369	1696	59	5	203	5	STEAP3	2	120003239	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	5499382	120003239	123196134	146	39784											
GLI2	2736	broad.mit.edu	37	chr2	121747847	121747847	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actactacggccagatccacAtgtacgaacaggatggaggc	13	6	11	11	2	0	1	0	0	0	1	1	4	1	3	2	4	4	1	2	4	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:121747847A>G	ENST00000452319.1	+	14	4417	c.4357A>G	c.(4357-4359)Atg>Gtg	p.M1453V	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.M1453V			P10070	GLI2_HUMAN	GLI family zinc finger 2	1453					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)				CCAGATCCACATGTACGAACA	0.657													24	64					0	0	0	0	G	121747847	A	G	121747847	3	3	222	1	0	0	0	0	1	0	0	0	6489	217	8	5	4407	5	GLI2	2	121747847	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1744608	121747847	121451526	147	39785											
CNTNAP5	129684	broad.mit.edu	37	chr2	125175132	125175132	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggaatcccagtgggaagaTtggcatgagagtcgaggtct	11	9	15	6	1	1	2	0	1	1	2	3	6	2	4	1	4	0	1	1	4	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:125175132T>C	ENST00000431078.1	+	4	858	c.494T>C	c.(493-495)aTt>aCt	p.I165T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	165	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGTGGGAAGATTGGCATGAGA	0.498													3	16					0	0	0	0	C	125175132	T	C	125175132	3	2	222	1	0	0	0	0	1	0	0	0	3680	1493	52	5	508	5	CNTNAP5	2	125175132	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	3427285	125175132	118024241	148	39786											
NCKAP5	344148	broad.mit.edu	37	chr2	133540264	133540264	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaggagtccctcagactttgGagggatcctcaaaggcaact	11	8	12	10	0	2	1	2	0	0	1	4	5	4	4	2	4	1	1	2	4	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:133540264G>C	ENST00000409261.1	-	14	4493	c.4120C>G	c.(4120-4122)Cca>Gca	p.P1374A	NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1374A|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1374							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCAGACTTTGGAGGGATCCTC	0.622													15	30					0	0	0	0	C	133540264	G	C	133540264	3	2	222	1	0	0	0	0	1	0	0	0	10293	1174	41	2	1637	2	NCKAP5	2	133540264	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	8365132	133540264	109659109	149	39787											
FAP	2191	broad.mit.edu	37	chr2	163027550	163027550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtgtataagtggttcGtggacaggccggataagccg	8	10	17	6	3	0	0	0	0	0	0	1	2	0	2	2	5	1	2	2	5	3	4	rs138652824		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:163027550G>T	ENST00000188790.4	-	26	2429	c.2222C>A	c.(2221-2223)aCg>aAg	p.T741K	FAP_ENST00000443424.1_Missense_Mutation_p.T716K|AC007750.5_ENST00000418968.2_RNA	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	741					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.T741K(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TAAGTGGTTCGTGGACAGGCC	0.433													28	38					7.38237e-10	1.39168e-09	1	0	T	163027550	G	T	163027550	3	4	222	1	0	0	0	0	1	0	0	0	5718	1145	40	3	64	3	FAP	2	163027550	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	29487286	163027550	80171823	150	39788											
SCN3A	6328	broad.mit.edu	37	chr2	166019263	166019263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagcaaacacgctcagaCagaacacagtcaggatcatc	16	5	9	11	1	3	3	3	1	0	3	4	5	3	4	0	1	3	2	0	1	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:166019263C>A	ENST00000360093.3	-	8	1261	c.770G>T	c.(769-771)tGt>tTt	p.C257F	SCN3A_ENST00000283254.7_Missense_Mutation_p.C257F|SCN3A_ENST00000409101.3_Missense_Mutation_p.C257F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	257						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CACGCTCAGACAGAACACAGT	0.478													37	36					1.90571e-15	4.0543e-15	1	0	A	166019263	C	A	166019263	3	1	222	1	0	0	0	0	1	0	0	0	14005	478	17	4	5316	4	SCN3A	2	166019263	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2991713	166019263	77180110	151	39789											
XIRP2	129446	broad.mit.edu	37	chr2	168105477	168105477	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaatctcattcatttccAgagagttcaggacaacaaaa	18	10	5	8	0	3	1	3	0	1	1	5	3	4	2	1	1	1	1	1	1	5	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:168105477A>T	ENST00000409195.1	+	9	7664	c.7575A>T	c.(7573-7575)ccA>ccT	p.P2525P	XIRP2_ENST00000295237.9_Silent_p.P2525P|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.P2303P|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2350					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						ATTCATTTCCAGAGAGTTCAG	0.348													32	51					0	0	0	0	T	168105477	A	T	168105477	2	4	222	1	0	0	0	0	0	0	0	1	17526	175	7	5		5	XIRP2	2	168105477	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2086214	168105477	75093896	152	39790											
LRP2	4036	broad.mit.edu	37	chr2	170096254	170096254	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaacacactcgtgagtacaAccaccattgaaatctgagca	15	8	7	11	1	1	4	0	4	1	0	2	4	1	4	2	0	4	2	2	0	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:170096254A>T	ENST00000263816.3	-	26	4362	c.4077T>A	c.(4075-4077)ggT>ggA	p.G1359G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1359	EGF-like 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CGTGAGTACAACCACCATTGA	0.383													17	27					0	0	0	0	T	170096254	A	T	170096254	2	4	222	1	0	0	0	0	0	0	0	1	9020	30	2	5		5	LRP2	2	170096254	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1990777	170096254	73103119	153	39791											
SSB	6741	broad.mit.edu	37	chr2	170667535	170667535	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaccaacaagaatccctAaacaaatggaagtcaaaagg	21	4	8	8	0	1	2	1	0	0	2	2	4	2	3	2	2	2	0	2	2	10	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:170667535A>G	ENST00000409333.1	+	10	1225	c.978A>G	c.(976-978)ctA>ctG	p.L326L	SSB_ENST00000260956.4_Silent_p.L326L|METTL5_ENST00000409837.1_Intron			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	326					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AAGAATCCCTAAACAAATGGA	0.333													14	27					0	0	0	0	G	170667535	A	G	170667535	2	3	222	1	0	0	0	0	0	0	0	1	15268	349	13	5		5	SSB	2	170667535	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	571281	170667535	72531838	154	39792											
TTN	7273	broad.mit.edu	37	chr2	179392225	179392225	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagctttccagttgtgtcatAttagatattcccataaagct	11	15	7	8	0	1	1	1	0	0	1	3	2	3	1	2	0	2	3	2	0	5	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:179392225A>G	ENST00000589042.1	-	362	107852	c.107628T>C	c.(107626-107628)aaT>aaC	p.N35876N	TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.N27003N|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Silent_p.N33308N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.N26811N|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Silent_p.N34235N|TTN_ENST00000359218.5_Silent_p.N26936N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34235							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)			GTTGTGTCATATTAGATATTC	0.403													38	56					0	0	0	0	G	179392225	A	G	179392225	2	3	222	1	0	0	0	0	0	0	0	1	16831	446	16	5		5	TTN	2	179392225	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	8724690	179392225	63807148	155	39793											
TTN	7273	broad.mit.edu	37	chr2	179457788	179457788	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtatctattgcttcaggAttaacaggtggacttggttt	8	17	11	5	0	2	0	1	0	1	0	2	2	2	2	0	4	2	4	0	4	3	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:179457788A>T	ENST00000589042.1	-	300	59282	c.59058T>A	c.(59056-59058)aaT>aaA	p.N19686K	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N10813K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N17118K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N10621K|TTN_ENST00000591111.1_Missense_Mutation_p.N18045K|TTN_ENST00000359218.5_Missense_Mutation_p.N10746K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18045	Fibronectin type-III 42.						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)			TTGCTTCAGGATTAACAGGTG	0.358													45	52					0	0	0	0	T	179457788	A	T	179457788	3	4	222	1	0	0	0	0	1	0	0	0	16831	330	12	5	49173	5	TTN	2	179457788	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	65563	179457788	63741585	156	39794											
TTN	7273	broad.mit.edu	37	chr2	179482516	179482516	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcttaccaattggatcAgcaactttgacgaagggtgt	11	11	12	7	1	1	1	1	1	0	0	1	3	1	2	1	3	3	2	1	3	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:179482516A>T	ENST00000589042.1	-	253	47786	c.47562T>A	c.(47560-47562)gcT>gcA	p.A15854A	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.A6981A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.A13286A|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.A6789A|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.A14213A|TTN_ENST00000359218.5_Silent_p.A6914A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14213	Fibronectin type-III 15.						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)			CAATTGGATCAGCAACTTTGA	0.388													17	35					0	0	0	0	T	179482516	A	T	179482516	2	4	222	1	0	0	0	0	0	0	0	1	16831	175	7	5		5	TTN	2	179482516	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	24728	179482516	63716857	157	39795											
COL3A1	1281	broad.mit.edu	37	chr2	189854843	189854843	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatcaggtagacccggaCgacctggagagcgaggattg	12	5	16	8	3	1	3	1	0	0	3	1	9	1	5	2	4	1	1	2	4	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:189854843C>A	ENST00000304636.3	+	9	882	c.712C>A	c.(712-714)Cga>Aga	p.R238R	COL3A1_ENST00000317840.5_Silent_p.R238R	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	238	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.R238*(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TAGACCCGGACGACCTGGAGA	0.383													13	23					0.00244969	0.00387703	1	0	A	189854843	C	A	189854843	2	1	222	1	0	0	0	0	0	0	0	1	3718	528	19	3		3	COL3A1	2	189854843	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	10372327	189854843	53344530	158	39796											
PLCL1	5334	broad.mit.edu	37	chr2	198950550	198950550	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagaactaaaactgtacAgcaaaacagtgataatccta	21	7	5	8	0	0	2	0	1	0	1	1	2	1	2	1	0	5	2	1	0	9	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:198950550A>T	ENST00000428675.1	+	2	2707	c.2309A>T	c.(2308-2310)cAg>cTg	p.Q770L	PLCL1_ENST00000437704.2_Missense_Mutation_p.Q672L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	770	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAAACTGTACAGCAAAACAGT	0.408													20	37					0	0	0	0	T	198950550	A	T	198950550	3	4	222	1	0	0	0	0	1	0	0	0	12111	188	7	5	2315	5	PLCL1	2	198950550	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	9095707	198950550	44248823	159	39797											
CASP8	841	broad.mit.edu	37	chr2	202137359	202137359	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttatttctcctcctcttAgaacctgctggatattttca	8	18	4	11	0	3	1	1	0	2	1	5	2	4	2	3	1	2	1	3	1	4	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:202137359A>G	ENST00000358485.4	+	4	784		c.e4-1		CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000264274.9_Splice_Site	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCCTCCTCTTAGAACCTGCTG	0.408										HNSCC(4;0.00038)			27	52					0	0	0	0	G	202137359	A	G	202137359	5	3	222	1	0	0	0	0	0	0	1	0	2702	434	15	5	701	5	CASP8	2	202137359	Splice_Site	SNP	A	TCGA-CR-7402-01A-11D-2012-08	3186809	202137359	41062014	160	39798											
ZDBF2	57683	broad.mit.edu	37	chr2	207176110	207176110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagagctgtcaagcgctatGgcaaatcctcctccaaagcg	12	7	10	12	2	1	1	1	0	0	1	4	2	4	1	3	1	3	3	3	1	5	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:207176110G>T	ENST00000374423.3	+	5	7244	c.6858G>T	c.(6856-6858)atG>atT	p.M2286I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2286							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAGCGCTATGGCAAATCCTC	0.507													8	4					0.000274275	0.000441235	1	0	T	207176110	G	T	207176110	3	4	222	1	0	0	0	0	1	0	0	0	17694	1348	47	4	6868	4	ZDBF2	2	207176110	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5038751	207176110	36023263	161	39799											
IDH1	3417	broad.mit.edu	37	chr2	209116227	209116227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaatgattcgtgtcatttCatctccttgcatctctacca	9	15	4	13	1	4	1	2	1	2	0	7	1	4	1	3	0	2	1	3	0	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:209116227C>T	ENST00000415913.1	-	3	430	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	IDH1_ENST00000345146.2_Missense_Mutation_p.E17K|IDH1_ENST00000446179.1_Missense_Mutation_p.E17K			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	17					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CGTGTCATTTCATCTCCTTGC	0.358			Mis		gliobastoma								27	31					0	0	0	0	T	209116227	C	T	209116227	3	4	222	1	0	0	0	0	1	0	0	0	7547	835	29	2	1227	2	IDH1	2	209116227	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1940117	209116227	34083146	162	39800											
PTH2R	5746	broad.mit.edu	37	chr2	209308084	209308084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccgtagacgattgcattGcactaggaactatatccaca	12	11	7	11	2	1	1	0	0	1	1	3	3	2	2	2	1	3	3	2	1	5	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:209308084G>A	ENST00000272847.2	+	6	734	c.521G>A	c.(520-522)tGc>tAc	p.C174Y	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	174						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CGATTGCATTGCACTAGGAAC	0.418													17	20					0	0	0	0	A	209308084	G	A	209308084	3	1	222	1	0	0	0	0	1	0	0	0	12840	1319	46	4	543	4	PTH2R	2	209308084	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	191857	209308084	33891289	163	39801											
ACADL	33	broad.mit.edu	37	chr2	211085399	211085399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaggaatcacttcttcttGgaaaaacttccttacacttt	12	15	5	9	0	3	1	1	1	2	0	4	3	4	3	1	2	2	0	1	2	4	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:211085399G>T	ENST00000233710.3	-	2	432	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	69					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ACTTCTTCTTGGAAAAACTTC	0.358													18	23					1.00905e-13	2.05278e-13	1	0	T	211085399	G	T	211085399	3	4	222	1	0	0	0	0	1	0	0	0	112	1357	47	4	1127	4	ACADL	2	211085399	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1777315	211085399	32113974	164	39802											
ERBB4	2066	broad.mit.edu	37	chr2	212812196	212812196	+	Frame_Shift_Del	DEL	C	C	-																															gttcttgaagtccaaagtttCcatcttttctgtagtttaaa																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:212812196delC	ENST00000342788.4	-	3	690	c.380delG	c.(379-381)gafs	p.G127fs	ERBB4_ENST00000436443.1_Frame_Shift_Del_p.G127fs|ERBB4_ENST00000402597.1_Frame_Shift_Del_p.G127fs|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	127					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCCAAAGTTTCCATCTTTTCT	0.338										TSP Lung(8;0.080)			15	29	---	---	---	---					-	212812196	C	-	212812196	7	5	222	1	0	1	0	1	0	0	0	0	5247	855	30	0	3650	0	ERBB4	2	212812196	Frame_Shift_Del	DEL	C	TCGA-CR-7402-01A-11D-2012-08	1726797	212812196	30387177	165	39803											
ABCA12	26154	broad.mit.edu	37	chr2	215976318	215976318	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaacaaatgtcatttacttAcaagttggttttgcagttgg	12	16	8	5	0	1	0	1	0	0	0	1	0	1	0	0	2	4	4	0	2	6	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:215976318A>T	ENST00000272895.7	-	2	383		c.e2+1		ABCA12_ENST00000412081.1_Splice_Site	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATTTACTTACAAGTTGGTT	0.294													19	22					0	0	0	0	T	215976318	A	T	215976318	5	4	222	1	0	0	0	0	0	0	1	0	30	405	14	5	7861	5	ABCA12	2	215976318	Splice_Site	SNP	A	TCGA-CR-7402-01A-11D-2012-08	3164122	215976318	27223055	166	39804											
ANKZF1	55139	broad.mit.edu	37	chr2	220095004	220095004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccggctccagatgcagccCcggctcctgcgtcgatctcc	4	7	11	19	5	1	1	0	0	1	1	5	2	3	1	6	2	3	3	6	2	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:220095004C>T	ENST00000323348.5	+	2	199	c.25C>T	c.(25-27)Ccg>Tcg	p.P9S	ANKZF1_ENST00000410034.3_Missense_Mutation_p.P9S|ANKZF1_ENST00000409849.1_Intron	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	9						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATGCAGCCCCGGCTCCTGC	0.612													11	22					0	0	0	0	T	220095004	C	T	220095004	3	4	222	1	0	0	0	0	1	0	0	0	692	623	22	4	27	4	ANKZF1	2	220095004	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4118686	220095004	23104369	167	39805											
DOCK10	55619	broad.mit.edu	37	chr2	225639746	225639746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttcgaaatctgtcttccgGtcttcgatttccttttcctc	5	19	5	12	3	3	0	0	0	3	0	9	2	6	0	3	1	0	0	3	1	1	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:225639746G>T	ENST00000409592.3	-	52	5984	c.5871C>A	c.(5869-5871)gaC>gaA	p.D1957E	DOCK10_ENST00000258390.7_Missense_Mutation_p.D1963E			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1963	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTGTCTTCCGGTCTTCGATTT	0.507													7	14					8.12818e-05	0.000132507	1	0	T	225639746	G	T	225639746	3	4	222	1	0	0	0	0	1	0	0	0	4721	1252	44	4	691	4	DOCK10	2	225639746	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5544742	225639746	17559627	168	39806											
SPHKAP	80309	broad.mit.edu	37	chr2	228881633	228881633	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcatgagagcctcaatggAgctagcccacgtttcatgaa	11	8	11	11	2	2	2	2	2	0	1	2	4	2	3	2	1	3	3	2	1	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:228881633A>C	ENST00000392056.3	-	7	3983	c.3937T>G	c.(3937-3939)Tcc>Gcc	p.S1313A	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1313A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1313						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCCTCAATGGAGCTAGCCCAC	0.507													17	27					0	0	0	0	C	228881633	A	C	228881633	3	2	222	1	0	0	0	0	1	0	0	0	15138	304	11	5	1189	5	SPHKAP	2	228881633	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	3241887	228881633	14317740	169	39807											
FGD5	152273	broad.mit.edu	37	chr3	14939485	14939485	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgacgtcttcctggcccgGgagcaggggtttgatcacca	6	9	14	12	2	2	2	1	2	1	0	3	3	3	3	3	4	1	3	3	4	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:14939485G>A	ENST00000285046.5	+	6	3059	c.2949G>A	c.(2947-2949)cgG>cgA	p.R983R	FGD5_ENST00000543601.1_Silent_p.R742R|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	983	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCCTGGCCCGGGAGCAGGGGT	0.592													24	38					0	0	0	0	A	14939485	G	A	14939485	2	1	222	1	0	0	0	0	0	0	0	1	5881	1219	43	4		4	FGD5	3	14939485	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08		14939485	183082945	170	39808											
RFTN1	23180	broad.mit.edu	37	chr3	16475401	16475401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctctaaagatgtgctccaGgggcgtcttctcccgctcat	6	11	11	13	2	4	1	1	0	3	1	6	1	5	1	2	3	1	3	2	3	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:16475401G>T	ENST00000334133.4	-	3	561	c.289C>A	c.(289-291)Ctg>Atg	p.L97M	RFTN1_ENST00000432519.1_Missense_Mutation_p.L61M	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	97						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ATGTGCTCCAGGGGCGTCTTC	0.597													50	103					2.55665e-31	6.27278e-31	1	0	T	16475401	G	T	16475401	3	4	222	1	0	0	0	0	1	0	0	0	13340	991	35	4	1479	4	RFTN1	3	16475401	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1535916	16475401	181547029	171	39809											
ZNF385D	79750	broad.mit.edu	37	chr3	21465512	21465512	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggactgtatttaggtttcggGggcttcccagcagctctgtc	5	13	13	10	1	1	0	0	0	1	0	4	1	2	1	1	4	2	5	1	4	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:21465512G>T	ENST00000281523.2	-	7	1415	c.897C>A	c.(895-897)ccC>ccA	p.P299P		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	299						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TAGGTTTCGGGGGCTTCCCAG	0.418													34	40					2.54651e-27	6.1475e-27	1	0	T	21465512	G	T	21465512	2	4	222	1	0	0	0	0	0	0	0	1	17973	1219	43	4		4	ZNF385D	3	21465512	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4990111	21465512	176556918	172	39810											
ZNF385D	79750	broad.mit.edu	37	chr3	21606087	21606087	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagaattaaatctcaactgGcaaatgttgcatgatatgat	15	13	7	6	0	2	3	2	2	1	1	3	3	2	3	0	1	2	3	0	1	6	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:21606087G>T	ENST00000281523.2	-	3	773	c.255C>A	c.(253-255)tgC>tgA	p.C85*	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	85						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATCTCAACTGGCAAATGTTGC	0.343													15	28					3.27435e-08	5.90472e-08	1	0	T	21606087	G	T	21606087	4	4	222	1	0	0	0	0	0	1	0	0	17973	1195	42	4	956	4	ZNF385D	3	21606087	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	140575	21606087	176416343	173	39811											
TGFBR2	7048	broad.mit.edu	37	chr3	30691784	30691784	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagaatgacgagaacataAcactagagacagtttgccat	18	7	9	7	1	0	4	0	1	0	3	0	7	0	4	1	0	3	1	1	0	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:30691784A>G	ENST00000295754.5	+	3	668	c.286A>G	c.(286-288)Aca>Gca	p.T96A	TGFBR2_ENST00000359013.4_Missense_Mutation_p.T121A	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	96					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CGAGAACATAACACTAGAGAC	0.428													27	34					0	0	0	0	G	30691784	A	G	30691784	3	3	222	1	0	0	0	0	1	0	0	0	15916	43	2	5	375	5	TGFBR2	3	30691784	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	9085697	30691784	167330646	174	39812											
TRANK1	9881	broad.mit.edu	37	chr3	36899135	36899135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggcagtgttctggcaGtggcaccacatggcactgac	8	9	12	12	0	2	1	1	1	1	0	2	1	2	1	1	4	0	5	1	4	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:36899135G>T	ENST00000429976.2	-	12	2193	c.1946C>A	c.(1945-1947)aCt>aAt	p.T649N	TRANK1_ENST00000428977.2_Missense_Mutation_p.T99N|TRANK1_ENST00000301807.6_Missense_Mutation_p.T99N			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	649					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGTTCTGGCAGTGGCACCACA	0.597													35	34					1.26612e-14	2.64463e-14	1	0	T	36899135	G	T	36899135	3	4	222	1	0	0	0	0	1	0	0	0	16549	1029	36	4	6879	4	TRANK1	3	36899135	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	6207351	36899135	161123295	175	39813											
SCN10A	6336	broad.mit.edu	37	chr3	38763808	38763808	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctctcaaaccagctgtgctCcacgatacggtagcaagtct	10	9	9	13	2	2	0	1	0	2	0	4	1	3	0	2	1	5	5	2	1	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:38763808C>A	ENST00000449082.2	-	19	3447	c.3448G>T	c.(3448-3450)Gag>Tag	p.E1150*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1150					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGCTGTGCTCCACGATACGG	0.547													20	33					0.000132079	0.000214601	1	0	A	38763808	C	A	38763808	4	1	222	1	0	0	0	0	0	1	0	0	13999	864	30	2	2458	2	SCN10A	3	38763808	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1864673	38763808	159258622	176	39814											
SCN11A	11280	broad.mit.edu	37	chr3	38946691	38946691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtggaacttacccttcatgGtgatggtgaggatgctgaca	9	12	13	7	0	1	3	1	3	0	0	1	5	1	5	1	4	3	1	1	4	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:38946691G>T	ENST00000302328.3	-	11	1793	c.1595C>A	c.(1594-1596)aCc>aAc	p.T532N	SCN11A_ENST00000450244.1_Missense_Mutation_p.T532N|SCN11A_ENST00000444237.2_Missense_Mutation_p.T532N|SCN11A_ENST00000456224.3_Missense_Mutation_p.T532N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	532					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACCCTTCATGGTGATGGTGAG	0.488													57	58					6.176e-18	1.36754e-17	1	0	T	38946691	G	T	38946691	3	4	222	1	0	0	0	0	1	0	0	0	14000	1261	44	4	3844	4	SCN11A	3	38946691	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	182883	38946691	159075739	177	39815											
CCR8	1237	broad.mit.edu	37	chr3	39374449	39374449	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacattttaggcttgttgatCccattcaccatctttatgtt	9	18	5	9	0	2	1	1	1	1	0	3	1	3	1	2	1	1	3	2	1	3	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:39374449C>T	ENST00000326306.4	+	2	765	c.627C>T	c.(625-627)atC>atT	p.I209I	CCR8_ENST00000545843.1_Silent_p.I126I|CCR8_ENST00000414803.1_3'UTR	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	209					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		GCTTGTTGATCCCATTCACCA	0.398													25	34					0	0	0	0	T	39374449	C	T	39374449	2	4	222	1	0	0	0	0	0	0	0	1	2976	845	30	2		2	CCR8	3	39374449	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	427758	39374449	158647981	178	39816											
CCK	885	broad.mit.edu	37	chr3	42304950	42304950	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgccagcagggcgcccAggtgcgctcgggactcgcca	6	6	14	15	4	1	0	0	0	1	0	3	1	1	1	3	3	3	2	3	3	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:42304950A>T	ENST00000396169.2	-	4	1078	c.173T>A	c.(172-174)cTg>cAg	p.L58Q	CCK_ENST00000334681.5_Missense_Mutation_p.L58Q|CCK_ENST00000434608.1_Missense_Mutation_p.L58Q	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	58					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CAGGGCGCCCAGGTGCGCTCG	0.672													32	58					0	0	0	0	T	42304950	A	T	42304950	3	4	222	1	0	0	0	0	1	0	0	0	2906	188	7	5	182	5	CCK	3	42304950	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2930501	42304950	155717480	179	39817											
CSPG5	10675	broad.mit.edu	37	chr3	47618790	47618790	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggaaggggtctctccCtcagtatcagggtggttctc	6	11	12	12	0	4	0	2	0	2	0	8	1	6	1	2	5	0	2	2	5	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:47618790C>T	ENST00000383738.2	-	2	2824	c.726G>A	c.(724-726)gaG>gaA	p.E242E	CSPG5_ENST00000264723.4_Silent_p.E242E|CSPG5_ENST00000456150.1_Silent_p.E104E	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	242					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGGTCTCTCCCTCAGTATCAG	0.527													9	12					0	0	0	0	T	47618790	C	T	47618790	2	4	222	1	0	0	0	0	0	0	0	1	3993	680	24	4		4	CSPG5	3	47618790	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	5313840	47618790	150403640	180	39818											
USP4	7375	broad.mit.edu	37	chr3	49377429	49377429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctgagtctccgcatccggtCgctcacggcagcctccacct	5	9	9	18	4	3	1	1	1	2	0	7	1	5	1	5	2	1	3	5	2	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:49377429C>G	ENST00000351842.4	-	1	37	c.29G>C	c.(28-30)cGa>cCa	p.R10P	USP4_ENST00000265560.4_Missense_Mutation_p.R10P|USP4_ENST00000415188.1_Missense_Mutation_p.R10P|USP4_ENST00000416417.1_Missense_Mutation_p.R10P	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	10					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CGCATCCGGTCGCTCACGGCA	0.697													6	24					0	0	0	0	G	49377429	C	G	49377429	3	3	222	1	0	0	0	0	1	0	0	0	17167	884	31	3	2950	3	USP4	3	49377429	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1758639	49377429	148645001	181	39819											
CACNA1D	776	broad.mit.edu	37	chr3	53781378	53781378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgacagtcctgtggtcCgtgaacggatctggcaaaac	10	10	12	9	2	1	2	0	2	1	0	3	3	3	3	2	3	2	2	2	3	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:53781378C>A	ENST00000288139.3	+	27	3395	c.3277C>A	c.(3277-3279)Cgt>Agt	p.R1093S	CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1073S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1073S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1073	Dihydropyridine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCCTGTGGTCCGTGAACGGAT	0.527													43	42					4.16155e-14	8.56428e-14	1	0	A	53781378	C	A	53781378	3	1	222	1	0	0	0	0	1	0	0	0	2566	652	23	3	3491	3	CACNA1D	3	53781378	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4403949	53781378	144241052	182	39820											
ADAMTS9	56999	broad.mit.edu	37	chr3	64608244	64608244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccatttagcaagaattcaCctttactgcttgataaagct	12	15	5	9	0	1	2	1	1	0	1	2	2	2	2	2	0	4	3	2	0	6	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:64608244C>T	ENST00000498707.1	-	17	2750	c.2408G>A	c.(2407-2409)gGt>gAt	p.G803D	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G775D	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	803	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAAGAATTCACCTTTACTGCT	0.403													17	20					0	0	0	0	T	64608244	C	T	64608244	3	4	222	1	0	0	0	0	1	0	0	0	273	507	18	4	3491	4	ADAMTS9	3	64608244	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	10826866	64608244	133414186	183	39821											
GPR27	2850	broad.mit.edu	37	chr3	71804129	71804129	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctacctgcgggtcctggTgcggcccggcgccgtccccc	2	6	14	19	5	0	0	0	0	0	0	2	0	2	0	6	4	4	1	6	4	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:71804129T>A	ENST00000304411.2	+	1	929	c.929T>A	c.(928-930)gTg>gAg	p.V310E		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	310						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CGGGTCCTGGTGCGGCCCGGC	0.667													10	15					0	0	0	0	A	71804129	T	A	71804129	3	1	222	1	0	0	0	0	1	0	0	0	6734	1696	59	5	931	5	GPR27	3	71804129	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	7195885	71804129	126218301	184	39822											
GXYLT2	727936	broad.mit.edu	37	chr3	73004273	73004273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaaggatgtggactcaCttctctacgtggacaccgat	10	13	9	9	2	2	0	1	0	1	0	3	4	2	3	1	3	1	0	1	3	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:73004273C>A	ENST00000389617.4	+	4	786	c.625C>A	c.(625-627)Ctt>Att	p.L209I		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	209					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TGTGGACTCACTTCTCTACGT	0.468													13	15					5.50884e-06	9.30688e-06	1	0	A	73004273	C	A	73004273	3	1	222	1	0	0	0	0	1	0	0	0	6954	565	20	4	639	4	GXYLT2	3	73004273	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1200144	73004273	125018157	185	39823											
PDZRN3	23024	broad.mit.edu	37	chr3	73433878	73433878	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcaggtcgccgctgccCaaggtgtcctggctgcaggt	6	7	16	12	2	0	0	0	0	0	0	2	0	1	0	3	5	2	4	3	5	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:73433878C>A	ENST00000263666.4	-	10	1953	c.1839G>T	c.(1837-1839)ttG>ttT	p.L613F	PDZRN3_ENST00000535920.1_Missense_Mutation_p.L335F|PDZRN3_ENST00000479530.1_Missense_Mutation_p.L330F|PDZRN3_ENST00000466780.1_Missense_Mutation_p.L270F|PDZRN3_ENST00000462146.2_Missense_Mutation_p.L270F	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	613							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGCCGCTGCCCAAGGTGTCCT	0.647													25	36					3.01185e-09	5.54919e-09	1	0	A	73433878	C	A	73433878	3	1	222	1	0	0	0	0	1	0	0	0	11780	593	21	4	1365	4	PDZRN3	3	73433878	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	429605	73433878	124588552	186	39824											
ROBO2	6092	broad.mit.edu	37	chr3	75986715	75986715	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactgttgatgatgactgTggtgttttggggtcatcagg	6	14	17	4	0	2	3	2	3	0	0	2	4	2	4	0	5	0	2	0	5	0	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:75986715T>C	ENST00000487694.3	+	2	350	c.71T>C	c.(70-72)gTg>gCg	p.V24A		NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	0					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGATGACTGTGGTGTTTTGG	0.453													4	14					0	0	0	0	C	75986715	T	C	75986715	3	2	222	1	0	0	0	0	1	0	0	0	13599	1711	59	5		5	ROBO2	3	75986715	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2552837	75986715	122035715	187	39825											
POU1F1	5449	broad.mit.edu	37	chr3	87313582	87313582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcagctgtggggtcctctgCcagaagaggctggtgtatag	8	9	16	8	0	1	2	0	0	1	2	2	2	2	2	2	4	3	4	2	4	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:87313582C>A	ENST00000350375.2	-	3	419	c.295G>T	c.(295-297)Gca>Tca	p.A99S	POU1F1_ENST00000344265.3_Missense_Mutation_p.A125S|POU1F1_ENST00000560656.1_Missense_Mutation_p.A99S	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	99					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		GGGTCCTCTGCCAGAAGAGGC	0.438													39	36					6.2361e-21	1.44817e-20	1	0	A	87313582	C	A	87313582	3	1	222	1	0	0	0	0	1	0	0	0	12340	739	26	4	596	4	POU1F1	3	87313582	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	11326867	87313582	110708848	188	39826											
EPHA3	2042	broad.mit.edu	37	chr3	89391052	89391052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggaatataaaacagtGtgagccatgcagcccaaatg	14	8	12	7	0	0	1	0	1	0	0	0	2	0	2	2	2	4	1	2	2	5	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:89391052G>T	ENST00000336596.2	+	5	1343	c.1118G>T	c.(1117-1119)tGt>tTt	p.C373F	EPHA3_ENST00000494014.1_Missense_Mutation_p.C373F|EPHA3_ENST00000452448.2_Missense_Mutation_p.C373F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	373	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATAAAACAGTGTGAGCCATGC	0.493										TSP Lung(6;0.00050)			14	28					1.3612e-06	2.34223e-06	1	0	T	89391052	G	T	89391052	3	4	222	1	0	0	0	0	1	0	0	0	5206	1377	48	4	1136	4	EPHA3	3	89391052	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2077470	89391052	108631378	189	39827											
EPHA6	285220	broad.mit.edu	37	chr3	97454962	97454962	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggaggacatccttgTgtaagaggcataatgttgag	10	11	14	6	0	0	2	0	1	0	1	1	4	1	4	2	4	0	3	2	4	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:97454962T>C	ENST00000389672.5	+	16	3166	c.3128_splice	c.e16+1	p.V1043_splice		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	948						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GACATCCTTGTGTAAGAGGCA	0.383													44	35					0	0	0	0	C	97454962	T	C	97454962	5	2	222	1	0	0	0	0	0	0	1	0	5209	1710	59	5	3307	5	EPHA6	3	97454962	Splice_Site	SNP	T	TCGA-CR-7402-01A-11D-2012-08	8063910	97454962	100567468	190	39828											
OR5H14	403273	broad.mit.edu	37	chr3	97868383	97868383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattgctgtcatctggaaaGaccctcatcttcatatccca	10	13	6	12	0	5	2	3	1	2	1	6	3	6	3	2	1	1	1	2	1	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:97868383G>A	ENST00000437310.1	+	1	214	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATCTGGAAAGACCCTCATCT	0.413													89	425					0	0	0	0	A	97868383	G	A	97868383	3	1	222	1	0	0	0	0	1	0	0	0	11231	942	33	2	156	2	OR5H14	3	97868383	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	413421	97868383	100154047	191	39829											
COL8A1	1295	broad.mit.edu	37	chr3	99513943	99513943	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctgcctggaatcccaggtCctatgggccctccaggtgct	5	9	12	15	0	0	0	0	0	0	0	3	1	3	1	6	4	2	1	6	4	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:99513943C>A	ENST00000261037.3	+	5	1578	c.1198C>A	c.(1198-1200)Cct>Act	p.P400T	COL8A1_ENST00000273342.4_Missense_Mutation_p.P400T	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	400	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AATCCCAGGTCCTATGGGCCC	0.612													8	62					0.00307968	0.00486226	1	0	A	99513943	C	A	99513943	3	1	222	1	0	0	0	0	1	0	0	0	3735	855	30	2	1204	2	COL8A1	3	99513943	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1645560	99513943	98508487	192	39830											
MYH15	22989	broad.mit.edu	37	chr3	108211406	108211406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtagttcctctctccaGcctgctggaaaatcaccctg	7	12	9	13	0	2	0	1	0	1	0	5	1	4	1	4	2	2	3	4	2	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:108211406G>A	ENST00000273353.3	-	10	928	c.872C>T	c.(871-873)gCt>gTt	p.A291V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	291	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTCTCTCCAGCCTGCTGGAA	0.368													14	44					0	0	0	0	A	108211406	G	A	108211406	3	1	222	1	0	0	0	0	1	0	0	0	10104	971	34	4	5100	4	MYH15	3	108211406	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	8697463	108211406	89811024	193	39831											
TRAT1	50852	broad.mit.edu	37	chr3	108549617	108549617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttcccactatgtggaaaaGcaacgacaaggtaagacatt	16	9	8	8	1	0	1	0	0	0	1	1	3	1	2	1	2	2	2	1	2	6	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:108549617G>T	ENST00000295756.6	+	2	338	c.108G>T	c.(106-108)aaG>aaT	p.K36N	TRAT1_ENST00000493604.1_3'UTR|TRAT1_ENST00000426646.1_Intron	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	36					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ATGTGGAAAAGCAACGACAAG	0.418													36	178					6.02846e-25	1.44995e-24	1	0	T	108549617	G	T	108549617	3	4	222	1	0	0	0	0	1	0	0	0	16561	962	34	4	114	4	TRAT1	3	108549617	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	338211	108549617	89472813	194	39832											
TRAT1	50852	broad.mit.edu	37	chr3	108568018	108568018	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttaattcccaagaaccaAtggatgaaaattgctatgaa	16	13	6	6	0	0	3	0	2	0	1	1	4	1	4	2	1	2	1	2	1	8	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:108568018A>G	ENST00000295756.6	+	5	450	c.220A>G	c.(220-222)Atg>Gtg	p.M74V	TRAT1_ENST00000426646.1_Missense_Mutation_p.M37V	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	74					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CCAAGAACCAATGGATGAAAA	0.338													15	71					0	0	0	0	G	108568018	A	G	108568018	3	3	222	1	0	0	0	0	1	0	0	0	16561	101	4	5	238	5	TRAT1	3	108568018	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	18401	108568018	89454412	195	39833											
ADPRH	141	broad.mit.edu	37	chr3	119301305	119301305	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggaagacatggatgggCgggcaccaggtgagcacagc	11	4	17	9	1	0	2	0	1	0	1	0	4	0	4	1	5	2	3	1	5	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:119301305C>A	ENST00000478399.1	+	2	1694	c.289C>A	c.(289-291)Cgg>Agg	p.R97R	ADPRH_ENST00000478927.1_Silent_p.R97R|ADPRH_ENST00000465513.1_Silent_p.R97R|ADPRH_ENST00000471850.1_Intron|ADPRH_ENST00000357003.3_Silent_p.R97R			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	97					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CATGGATGGGCGGGCACCAGG	0.473													14	84					9.7654e-05	0.000159064	1	0	A	119301305	C	A	119301305	2	1	222	1	0	0	0	0	0	0	0	1	331	759	27	3		3	ADPRH	3	119301305	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	10733287	119301305	78721125	196	39834											
GTF2E1	2960	broad.mit.edu	37	chr3	120469827	120469827	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagacttagaagctaatcAgctctttgatcctatgacag	13	11	7	10	0	2	4	1	2	1	2	3	4	3	4	1	0	2	2	1	0	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:120469827A>T	ENST00000283875.5	+	2	521	c.428A>T	c.(427-429)cAg>cTg	p.Q143L		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	143					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	p.Q143P(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GAAGCTAATCAGCTCTTTGAT	0.353													18	64					0	0	0	0	T	120469827	A	T	120469827	3	4	222	1	0	0	0	0	1	0	0	0	6906	188	7	5	430	5	GTF2E1	3	120469827	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1168522	120469827	77552603	197	39835											
STXBP5L	9515	broad.mit.edu	37	chr3	121001149	121001149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgtctaacttttatcCtgatttaacgaaacggatcc	10	14	7	10	2	1	1	0	1	1	0	3	3	3	2	3	2	3	0	3	2	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:121001149C>A	ENST00000273666.6	+	20	2418	c.2147C>A	c.(2146-2148)cCt>cAt	p.P716H	STXBP5L_ENST00000472879.1_Intron|STXBP5L_ENST00000471454.1_Intron|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P716H|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P716H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	716					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AACTTTTATCCTGATTTAACG	0.383													15	54					1.3612e-06	2.34223e-06	1	0	A	121001149	C	A	121001149	3	1	222	1	0	0	0	0	1	0	0	0	15447	681	24	4	2221	4	STXBP5L	3	121001149	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	531322	121001149	77021281	198	39836											
CD86	942	broad.mit.edu	37	chr3	121838297	121838297	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctccagagaaaaaatccaTatacctgaaagatctgatga	17	10	6	8	0	2	5	0	3	2	2	4	6	3	5	3	0	1	0	3	0	6	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:121838297T>C	ENST00000330540.2	+	7	1022	c.906T>C	c.(904-906)caT>caC	p.H302H	CD86_ENST00000469710.1_Silent_p.H220H|CD86_ENST00000393627.2_Silent_p.H296H|CD86_ENST00000493101.1_Silent_p.H190H|CD86_ENST00000264468.5_Silent_p.H89H	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	302					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AAAAAATCCATATACCTGAAA	0.338													17	57					0	0	0	0	C	121838297	T	C	121838297	2	2	222	1	0	0	0	0	0	0	0	1	3072	1403	49	5		5	CD86	3	121838297	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	837148	121838297	76184133	199	39837											
SEMA5B	54437	broad.mit.edu	37	chr3	122642512	122642512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggagccaggcagccctgggGttctcctggtagcgaaatgg	7	7	17	10	1	1	0	0	0	1	0	2	2	1	1	3	6	3	3	3	6	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:122642512G>T	ENST00000195173.4	-	10	1527	c.1224C>A	c.(1222-1224)aaC>aaA	p.N408K	SEMA5B_ENST00000357599.3_Missense_Mutation_p.N408K|SEMA5B_ENST00000451055.2_Missense_Mutation_p.N462K			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	408	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGCCCTGGGGTTCTCCTGGT	0.557													31	135					1.88708e-17	4.15499e-17	1	0	T	122642512	G	T	122642512	3	4	222	1	0	0	0	0	1	0	0	0	14125	1252	44	4	2287	4	SEMA5B	3	122642512	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	804215	122642512	75379918	200	39838											
MYLK	4638	broad.mit.edu	37	chr3	123427705	123427705	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgactcttggatctcattCccattgtgcagccagatgac	8	13	8	12	0	3	3	1	2	3	1	5	4	4	4	2	1	2	1	2	1	0	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:123427705C>A	ENST00000360772.3	-	16	2358	c.1980G>T	c.(1978-1980)ggG>ggT	p.G660G	MYLK_ENST00000475616.1_Silent_p.G660G|MYLK_ENST00000360304.3_Silent_p.G660G|MYLK_ENST00000359169.1_Silent_p.G660G|MYLK_ENST00000346322.5_Silent_p.G591G			Q15746	MYLK_HUMAN	myosin light chain kinase	660	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGATCTCATTCCCATTGTGCA	0.562													22	127					9.95505e-16	2.12716e-15	1	0	A	123427705	C	A	123427705	2	1	222	1	0	0	0	0	0	0	0	1	10126	842	30	2		2	MYLK	3	123427705	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	785193	123427705	74594725	201	39839											
CCDC14	64770	broad.mit.edu	37	chr3	123633847	123633847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaacctgatgggccatGacatgcagtttgttcctctg	10	11	10	10	0	1	3	0	2	1	1	2	3	2	3	3	1	2	3	3	1	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:123633847G>T	ENST00000485727.1	-	9	6633	c.2041C>A	c.(2041-2043)Cat>Aat	p.H681N	CCDC14_ENST00000488653.2_Missense_Mutation_p.H881N|CCDC14_ENST00000489746.1_Missense_Mutation_p.H681N|CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000433542.2_Missense_Mutation_p.H840N|CCDC14_ENST00000310351.4_Missense_Mutation_p.H721N			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	881						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GATGGGCCATGACATGCAGTT	0.458													18	89					3.41278e-10	6.47732e-10	1	0	T	123633847	G	T	123633847	3	4	222	1	0	0	0	0	1	0	0	0	2798	1290	45	2	224	2	CCDC14	3	123633847	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	206142	123633847	74388583	202	39840											
KALRN	8997	broad.mit.edu	37	chr3	124377324	124377324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtattgtcagaataagccgcGctcagagtacatcgttgctg	10	11	11	9	3	2	2	2	0	0	2	3	2	2	2	1	0	3	5	1	0	4	5	rs144160219	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:124377324G>T	ENST00000360013.3	+	42	6207	c.6080G>T	c.(6079-6081)cGc>cTc	p.R2027L	KALRN_ENST00000459915.1_Missense_Mutation_p.R119L|KALRN_ENST00000393496.1_Missense_Mutation_p.R368L|KALRN_ENST00000291478.4_Missense_Mutation_p.R330L|KALRN_ENST00000428018.2_Missense_Mutation_p.R298L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2026	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AATAAGCCGCGCTCAGAGTAC	0.507													24	99					1.17739e-12	2.33447e-12	1	0	T	124377324	G	T	124377324	3	4	222	1	0	0	0	0	1	0	0	0	8028	1087	38	3	6402	3	KALRN	3	124377324	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	743477	124377324	73645106	203	39841											
ALDH1L1	10840	broad.mit.edu	37	chr3	125879696	125879696	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctccattggctcactcacCcagggggtcggcctttccat	5	11	10	15	1	2	0	2	0	0	0	5	0	4	0	4	4	1	2	4	4	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:125879696C>A	ENST00000393434.2	-	2	476	c.127_splice	c.e2+1	p.G43_splice	ALDH1L1_ENST00000273450.3_Splice_Site_p.G53_splice|ALDH1L1_ENST00000393431.2_Splice_Site_p.G43_splice|ALDH1L1_ENST00000472186.1_Splice_Site_p.G43_splice|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000452905.2_Splice_Site_p.G43_splice	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	43	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCTCACTCACCCAGGGGGTCG	0.602													28	162					9.39395e-14	1.91507e-13	1	0	A	125879696	C	A	125879696	5	1	222	1	0	0	0	0	0	0	1	0	494	637	22	4	2669	4	ALDH1L1	3	125879696	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1502372	125879696	72142734	204	39842											
UROC1	131669	broad.mit.edu	37	chr3	126218903	126218903	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccttcctcctacctgCtctctgggcctccaagagga	5	11	7	18	0	1	1	0	0	1	1	7	2	6	2	7	2	2	1	7	2	2	2	rs142723755	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:126218903C>A	ENST00000290868.2	-	12	1293	c.1240G>T	c.(1240-1242)Gca>Tca	p.A414S	UROC1_ENST00000383579.3_Missense_Mutation_p.A474S	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	414					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ctcctACCTGCTCTCTGGGCC	0.632													15	64					2.23348e-06	3.81627e-06	1	0	A	126218903	C	A	126218903	3	1	222	1	0	0	0	0	1	0	0	0	17124	797	28	4	826	4	UROC1	3	126218903	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	339207	126218903	71803527	205	39843											
EEFSEC	60678	broad.mit.edu	37	chr3	128060074	128060074	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgcttactccccatcAggtggtgaagaaggtgaagt	9	12	11	9	0	2	3	1	2	1	1	4	3	3	3	2	3	2	1	2	3	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:128060074A>T	ENST00000254730.6	+	5	840		c.e5-1		EEFSEC_ENST00000483569.1_Splice_Site|EEFSEC_ENST00000483457.1_Splice_Site	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific							cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ACTCCCCATCAGGTGGTGAAG	0.562													26	100					0	0	0	0	T	128060074	A	T	128060074	5	4	222	1	0	0	0	0	0	0	1	0	4967	202	7	5	803	5	EEFSEC	3	128060074	Splice_Site	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1841171	128060074	69962356	206	39844											
RAB7A	7879	broad.mit.edu	37	chr3	128516832	128516832	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgtgaataagaaattcAgcaatcagtacaaagccaca	19	8	7	7	0	2	2	2	1	0	1	2	2	2	2	1	0	3	3	1	0	7	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:128516832A>C	ENST00000265062.3	+	3	346	c.100A>C	c.(100-102)Agc>Cgc	p.S34R	RAB7A_ENST00000482525.1_Missense_Mutation_p.S34R|RAB7A_ENST00000485280.1_Missense_Mutation_p.S34R	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	34					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		TAAGAAATTCAGCAATCAGTA	0.433													30	109					0	0	0	0	C	128516832	A	C	128516832	3	2	222	1	0	0	0	0	1	0	0	0	13036	188	7	5	106	5	RAB7A	3	128516832	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	456758	128516832	69505598	207	39845											
GP9	2815	broad.mit.edu	37	chr3	128780893	128780893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctggctggaggaccgcaCgcccgaggccctgctgcagg	5	5	15	16	3	1	0	0	0	1	0	1	3	1	2	4	5	2	4	4	5	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:128780893C>G	ENST00000307395.4	+	3	533	c.311C>G	c.(310-312)aCg>aGg	p.T104R		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	104	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	GAGGACCGCACGCCCGAGGCC	0.692													15	64					0	0	0	0	G	128780893	C	G	128780893	3	3	222	1	0	0	0	0	1	0	0	0	6634	536	19	3	313	3	GP9	3	128780893	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	264061	128780893	69241537	208	39846											
PIK3R4	30849	broad.mit.edu	37	chr3	130442379	130442379	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatcactaagaccttgttgCagcagaggcttgagaattga	12	10	11	8	0	1	4	1	2	0	3	1	5	1	4	1	1	2	5	1	1	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:130442379C>G	ENST00000356763.3	-	7	2417	c.1860G>C	c.(1858-1860)ctG>ctC	p.L620L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	620					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						GACCTTGTTGCAGCAGAGGCT	0.408													29	36					0	0	0	0	G	130442379	C	G	130442379	2	3	222	1	0	0	0	0	0	0	0	1	11993	697	25	4		4	PIK3R4	3	130442379	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1661486	130442379	67580051	209	39847											
ATP2C1	27032	broad.mit.edu	37	chr3	130683850	130683850	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgaagaatgaaatgacTgttactcacatatttacttc	14	13	6	8	1	1	4	1	3	0	1	2	5	1	4	0	0	2	1	0	0	6	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:130683850T>A	ENST00000510168.1	+	14	1633	c.1083T>A	c.(1081-1083)acT>acA	p.T361T	ATP2C1_ENST00000359644.3_Silent_p.T361T|ATP2C1_ENST00000393221.4_Silent_p.T395T|ATP2C1_ENST00000422190.2_Silent_p.T361T|ATP2C1_ENST00000428331.2_Silent_p.T361T|ATP2C1_ENST00000328560.8_Silent_p.T361T|ATP2C1_ENST00000533801.2_Silent_p.T356T|ATP2C1_ENST00000507488.2_Silent_p.T345T|ATP2C1_ENST00000508532.1_Silent_p.T361T|ATP2C1_ENST00000504948.1_Silent_p.T345T|ATP2C1_ENST00000504381.1_Silent_p.T306T|ATP2C1_ENST00000513801.1_Silent_p.T345T|ATP2C1_ENST00000505330.1_Silent_p.T345T			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	361					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	ATGAAATGACTGTTACTCACA	0.333									Hailey-Hailey disease				55	43					0	0	0	0	A	130683850	T	A	130683850	2	1	222	1	0	0	0	0	0	0	0	1	1147	1567	55	5		5	ATP2C1	3	130683850	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	241471	130683850	67338580	210	39848											
CPNE4	131034	broad.mit.edu	37	chr3	131624228	131624228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaactttggtcaggcagggGctgttaaagattcccagtgt	9	12	12	8	0	2	1	2	0	0	1	3	1	3	1	1	4	1	3	1	4	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:131624228G>T	ENST00000512055.1	-	6	2186	c.60C>A	c.(58-60)agC>agA	p.S20R	CPNE4_ENST00000502818.1_Missense_Mutation_p.S38R|CPNE4_ENST00000512332.1_Missense_Mutation_p.S38R|CPNE4_ENST00000429747.1_Missense_Mutation_p.S20R|CPNE4_ENST00000511604.1_Missense_Mutation_p.S20R			Q96A23	CPNE4_HUMAN	copine IV	20										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCAGGCAGGGGCTGTTAAAGA	0.458													18	57					1.67942e-08	3.05107e-08	1	0	T	131624228	G	T	131624228	3	4	222	1	0	0	0	0	1	0	0	0	3844	1194	42	4	1673	4	CPNE4	3	131624228	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	940378	131624228	66398202	211	39849											
SLCO2A1	6578	broad.mit.edu	37	chr3	133672524	133672524	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctgtgttgaccctgccaTagtccacaaagatctgcagc	10	9	8	14	0	1	2	0	1	1	1	2	2	2	2	4	0	3	2	4	0	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:133672524T>A	ENST00000310926.4	-	5	980	c.707A>T	c.(706-708)tAt>tTt	p.Y236F	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.Y160F	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	236					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GACCCTGCCATAGTCCACAAA	0.522													64	58					0	0	0	0	A	133672524	T	A	133672524	3	1	222	1	0	0	0	0	1	0	0	0	14814	1406	49	5	1264	5	SLCO2A1	3	133672524	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2048296	133672524	64349906	212	39850											
ESYT3	83850	broad.mit.edu	37	chr3	138174129	138174129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagagaagagcatccacCtgaggacctttacctttacc	11	9	8	13	1	0	3	0	1	0	2	2	6	2	4	6	1	3	1	6	1	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:138174129C>A	ENST00000389567.4	+	3	649	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	ESYT3_ENST00000289135.4_Missense_Mutation_p.L155M	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	155						integral to membrane|plasma membrane		p.L155L(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GAGCATCCACCTGAGGACCTT	0.522													19	105					1.15919e-05	1.94325e-05	1	0	A	138174129	C	A	138174129	3	1	222	1	0	0	0	0	1	0	0	0	5304	680	24	4	473	4	ESYT3	3	138174129	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4501605	138174129	59848301	213	39851											
ZBTB38	253461	broad.mit.edu	37	chr3	141163889	141163889	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagaacccagtggagacAgcccactcgggctttgccaa	11	5	10	15	1	0	2	0	0	0	2	1	3	0	2	4	2	3	1	4	2	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:141163889A>T	ENST00000514251.1	+	4	2938	c.2659A>T	c.(2659-2661)Agc>Tgc	p.S887C	ZBTB38_ENST00000441582.2_Missense_Mutation_p.S887C|ZBTB38_ENST00000321464.5_Missense_Mutation_p.S888C			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	887					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CAGTGGAGACAGCCCACTCGG	0.507													19	65					0	0	0	0	T	141163889	A	T	141163889	3	4	222	1	0	0	0	0	1	0	0	0	17634	188	7	5	2661	5	ZBTB38	3	141163889	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2989760	141163889	56858541	214	39852											
XRN1	54464	broad.mit.edu	37	chr3	142030457	142030457	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgagatatactatggccttGagaggcagtttcaacttgaa	12	12	11	6	0	1	3	1	3	0	2	1	5	1	3	1	2	2	2	1	2	5	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:142030457G>C	ENST00000264951.4	-	42	5134	c.5017C>G	c.(5017-5019)Caa>Gaa	p.Q1673E	XRN1_ENST00000392981.2_Missense_Mutation_p.Q1661E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1673					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTATGGCCTTGAGAGGCAGTT	0.403													30	170					0	0	0	0	C	142030457	G	C	142030457	3	2	222	1	0	0	0	0	1	0	0	0	17555	1299	45	2	107	2	XRN1	3	142030457	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	866568	142030457	55991973	215	39853											
SLC9A9	285195	broad.mit.edu	37	chr3	143292939	143292939	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcactgacctgttaggcCggcagcctcggcagacagga	10	5	14	12	2	0	2	0	1	0	1	1	4	0	3	3	4	2	4	3	4	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:143292939C>A	ENST00000316549.6	-	8	1199	c.991G>T	c.(991-993)Ggc>Tgc	p.G331C		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	331					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.G331S(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CCTGTTAGGCCGGCAGCCTCG	0.537													9	66					0.000274275	0.000441235	1	0	A	143292939	C	A	143292939	3	1	222	1	0	0	0	0	1	0	0	0	14809	652	23	3	982	3	SLC9A9	3	143292939	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1262482	143292939	54729491	216	39854											
PLSCR4	57088	broad.mit.edu	37	chr3	145938675	145938675	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttttgtttgattttccatTtcacctgcaggctgttcagg	5	18	10	8	0	2	1	2	1	0	0	3	1	3	1	2	3	1	5	2	3	0	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:145938675T>G	ENST00000354952.2	-	3	285	c.45A>C	c.(43-45)gaA>gaC	p.E15D	PLSCR4_ENST00000433593.2_5'UTR|PLSCR4_ENST00000493382.1_Missense_Mutation_p.E15D|PLSCR4_ENST00000446574.2_Missense_Mutation_p.E15D|PLSCR4_ENST00000383083.2_Missense_Mutation_p.E15D	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	15					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						GATTTTCCATTTCACCTGCAG	0.393													11	33					0	0	0	0	G	145938675	T	G	145938675	3	3	222	1	0	0	0	0	1	0	0	0	12184	1838	64	5	972	5	PLSCR4	3	145938675	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2645736	145938675	52083755	217	39855											
CPA3	1359	broad.mit.edu	37	chr3	148596303	148596303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatatcccaggcaggcacagCtacgcaaaatacaataattg	16	7	8	10	1	0	0	0	0	0	0	1	1	1	0	1	2	3	4	1	2	7	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:148596303C>A	ENST00000296046.3	+	4	397	c.345C>A	c.(343-345)agC>agA	p.S115R	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	115					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GCAGGCACAGCTACGCAAAAT	0.313													67	39					3.05417e-18	6.79362e-18	1	0	A	148596303	C	A	148596303	3	1	222	1	0	0	0	0	1	0	0	0	3821	796	28	4	359	4	CPA3	3	148596303	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2657628	148596303	49426127	218	39856											
PLCH1	23007	broad.mit.edu	37	chr3	155303945	155303945	+	Frame_Shift_Del	DEL	C	C	-																															caatattcagcaagccgtcaCcattcttatcagcttcctca																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:155303945delC	ENST00000460012.1	-	5	776	c.419delG	c.(418-420)gtfs	p.G140fs	PLCH1_ENST00000447496.2_Frame_Shift_Del_p.G158fs|PLCH1_ENST00000414191.1_Frame_Shift_Del_p.G140fs|PLCH1_ENST00000340059.7_Frame_Shift_Del_p.G158fs|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.G140fs|PLCH1_ENST00000494598.1_Frame_Shift_Del_p.G158fs			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	158					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAAGCCGTCACCATTCTTATC	0.403													24	88	---	---	---	---					-	155303945	C	-	155303945	7	5	222	1	0	1	0	1	0	0	0	0	12109	507	18	0	4703	0	PLCH1	3	155303945	Frame_Shift_Del	DEL	C	TCGA-CR-7402-01A-11D-2012-08	6707642	155303945	42718485	219	39857											
VEPH1	79674	broad.mit.edu	37	chr3	157146130	157146130	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcgagttgttttttctttGctgctacatgcaaaagccgt	7	16	8	10	2	1	0	0	0	1	0	2	1	1	0	2	0	5	5	2	0	3	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:157146130G>C	ENST00000362010.2	-	5	984	c.677C>G	c.(676-678)gCa>gGa	p.A226G	VEPH1_ENST00000392833.2_Missense_Mutation_p.A226G|VEPH1_ENST00000543418.1_Missense_Mutation_p.A226G|VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392832.2_Missense_Mutation_p.A226G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	226						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTTTTTCTTTGCTGCTACATG	0.438													14	89					0	0	0	0	C	157146130	G	C	157146130	3	2	222	1	0	0	0	0	1	0	0	0	17250	1319	46	4	1864	4	VEPH1	3	157146130	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1842185	157146130	40876300	220	39858											
SI	6476	broad.mit.edu	37	chr3	164741509	164741509	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcgagctgagttgactgaaTaagagttatcttgtctggga	11	12	13	5	1	2	4	0	3	2	1	2	6	2	5	0	1	2	3	0	1	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:164741509T>A	ENST00000264382.3	-	26	3010	c.2948A>T	c.(2947-2949)tAt>tTt	p.Y983F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	983	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTGACTGAATAAGAGTTATC	0.403										HNSCC(35;0.089)			10	47					0	0	0	0	A	164741509	T	A	164741509	3	1	222	1	0	0	0	0	1	0	0	0	14385	1406	49	5	2627	5	SI	3	164741509	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	7595379	164741509	33280921	221	39859											
MECOM	2122	broad.mit.edu	37	chr3	168806817	168806817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactttctgtgtaacggctGcttaagttcctctggcacat	7	14	10	10	1	2	0	0	0	2	0	3	1	3	1	1	3	2	5	1	3	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:168806817G>T	ENST00000464456.1	-	14	4165	c.2965C>A	c.(2965-2967)Cag>Aag	p.Q989K	MECOM_ENST00000264674.3_Missense_Mutation_p.Q1063K|MECOM_ENST00000392736.3_Missense_Mutation_p.Q998K|MECOM_ENST00000472280.1_Missense_Mutation_p.Q999K|MECOM_ENST00000433243.2_Missense_Mutation_p.Q999K|MECOM_ENST00000494292.1_Missense_Mutation_p.Q1177K|MECOM_ENST00000468789.1_Missense_Mutation_p.Q998K|MECOM_ENST00000460814.1_Missense_Mutation_p.Q989K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTAACGGCTGCTTAAGTTCC	0.393													21	82					4.4004e-07	7.69381e-07	1	0	T	168806817	G	T	168806817	3	4	222	1	0	0	0	0	1	0	0	0	9491	1328	46	4	171	4	MECOM	3	168806817	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4065308	168806817	29215613	222	39860											
TNIK	23043	broad.mit.edu	37	chr3	170781743	170781743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctccagatcgcacggatGcaaaaaatacctgtttgaaa	14	10	7	10	2	0	2	0	1	0	1	3	3	2	3	3	1	2	3	3	1	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:170781743G>T	ENST00000436636.2	-	33	4354	c.4010C>A	c.(4009-4011)gCa>gAa	p.A1337E	TNIK_ENST00000341852.6_Missense_Mutation_p.A1253E|TNIK_ENST00000460047.1_Missense_Mutation_p.A1274E|TNIK_ENST00000369326.5_Missense_Mutation_p.A1315E|TNIK_ENST00000357327.5_Missense_Mutation_p.A1308E|TNIK_ENST00000475336.1_Missense_Mutation_p.A1245E|TNIK_ENST00000284483.8_Missense_Mutation_p.A1329E|TNIK_ENST00000470834.1_Missense_Mutation_p.A1300E|TNIK_ENST00000538048.1_Missense_Mutation_p.A1289E|TNIK_ENST00000488470.1_Missense_Mutation_p.A1282E|TNIK_ENST00000464785.1_5'UTR	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1337					actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCGCACGGATGCAAAAAATAC	0.403													52	40					6.81593e-30	1.66394e-29	1	0	T	170781743	G	T	170781743	3	4	222	1	0	0	0	0	1	0	0	0	16407	1319	46	4	76	4	TNIK	3	170781743	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1974926	170781743	27240687	223	39861											
TNIK	23043	broad.mit.edu	37	chr3	170805171	170805171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggaatgggttgagacgCgccccagtccctcagtcggg	6	7	15	13	3	1	1	1	1	0	1	3	3	2	2	4	3	0	1	4	3	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:170805171C>T	ENST00000436636.2	-	24	3190	c.2846G>A	c.(2845-2847)cGc>cAc	p.R949H	TNIK_ENST00000341852.6_Missense_Mutation_p.R865H|TNIK_ENST00000460047.1_Missense_Mutation_p.R886H|TNIK_ENST00000369326.5_Missense_Mutation_p.R927H|TNIK_ENST00000357327.5_Missense_Mutation_p.R920H|TNIK_ENST00000475336.1_Missense_Mutation_p.R857H|TNIK_ENST00000284483.8_Missense_Mutation_p.R941H|TNIK_ENST00000470834.1_Missense_Mutation_p.R912H|TNIK_ENST00000538048.1_Missense_Mutation_p.R901H|TNIK_ENST00000488470.1_Missense_Mutation_p.R894H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	949	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGTTGAGACGCGCCCCAGTCC	0.582													26	146					0	0	0	0	T	170805171	C	T	170805171	3	4	222	1	0	0	0	0	1	0	0	0	16407	768	27	1	1276	1	TNIK	3	170805171	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	23428	170805171	27217259	224	39862											
FNDC3B	64778	broad.mit.edu	37	chr3	172059019	172059019	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtaccggcggacacagcCaggttggttttgtttccata	8	12	11	10	2	1	0	1	0	0	0	2	1	2	1	3	4	2	4	3	4	2	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:172059019C>T	ENST00000336824.4	+	17	2068	c.1969C>T	c.(1969-1971)Cag>Tag	p.Q657*	FNDC3B_ENST00000415807.2_Nonsense_Mutation_p.Q657*|FNDC3B_ENST00000416957.1_Nonsense_Mutation_p.Q657*	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	657	Fibronectin type-III 4.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CGGACACAGCCAGGTTGGTTT	0.443													160	139					0	0	0	0	T	172059019	C	T	172059019	4	4	222	1	0	0	0	0	0	1	0	0	6015	595	21	4	2031	4	FNDC3B	3	172059019	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1253848	172059019	25963411	225	39863											
SPATA16	83893	broad.mit.edu	37	chr3	172607391	172607392	+	Frame_Shift_Ins	INS	-	-	T																															aacagtttgaagtcgcttcaINStttttgttttttgccttcga																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:172607391_172607392insT	ENST00000351008.3	-	11	1861_1862	c.1678_1679insA	c.(1678-1680)gaafs	p.E560fs		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	560					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAGTCGCTTCATTTTTGTTTTT	0.401													7	273	---	---	---	---					T	172607392	-	T	172607391	7	5	222	1	0	1	1	0	0	0	0	0	15091	217	8	0	34	0	SPATA16	3	172607391	Frame_Shift_Ins	INS	-	TCGA-CR-7402-01A-11D-2012-08	548372	172607391	25415039	226	39864	297	2									
SPATA16	83893	broad.mit.edu	37	chr3	172607397	172607397	+	Frame_Shift_Del	DEL	G	G	-																															tttgaagtcgcttcatttttGttttttgccttcgagcagtt																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:172607397delG	ENST00000351008.3	-	11	1856	c.1673delC	c.(1672-1674)aafs	p.T558fs		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	558					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTTCATTTTTGTTTTTTGCCT	0.388													7	254	---	---	---	---					-	172607397	G	-	172607397	7	5	222	1	0	1	0	1	0	0	0	0	15091	1377	48	0	40	0	SPATA16	3	172607397	Frame_Shift_Del	DEL	G	TCGA-CR-7402-01A-11D-2012-08	6	172607397	25415033	227	39865	297	2									
NAALADL2	254827	broad.mit.edu	37	chr3	175184791	175184791	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatatcatagttggcagccAtcatcacactgcacacagtt	12	11	7	11	0	3	0	3	0	0	0	3	0	3	0	1	1	2	5	1	1	3	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:175184791A>G	ENST00000454872.1	+	8	1480	c.1352A>G	c.(1351-1353)cAt>cGt	p.H451R	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	451					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GTTGGCAGCCATCATCACACT	0.363													66	310					0	0	0	0	G	175184791	A	G	175184791	3	3	222	1	0	0	0	0	1	0	0	0	10200	217	8	5	1382	5	NAALADL2	3	175184791	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2577394	175184791	22837639	228	39866											
USP13	8975	broad.mit.edu	37	chr3	179418886	179418886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagatcactatgaaatagCactaccaaatattgaggagt	16	9	7	9	0	1	3	1	2	0	1	1	4	1	4	2	1	2	1	2	1	6	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:179418886C>A	ENST00000263966.3	+	4	917	c.446C>A	c.(445-447)gCa>gAa	p.A149E	USP13_ENST00000496897.1_Missense_Mutation_p.A84E|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	149					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TATGAAATAGCACTACCAAAT	0.443													41	56					4.14481e-20	9.48981e-20	1	0	A	179418886	C	A	179418886	3	1	222	1	0	0	0	0	1	0	0	0	17140	710	25	4	460	4	USP13	3	179418886	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4234095	179418886	18603544	229	39867											
LAMP3	27074	broad.mit.edu	37	chr3	182841971	182841971	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggccccaatcacaggaagCacaattgtgtagtcagacga	14	7	10	10	1	2	1	2	0	0	1	2	3	2	2	2	2	1	2	2	2	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:182841971C>A	ENST00000265598.3	-	6	1404	c.1149G>T	c.(1147-1149)gtG>gtT	p.V383V	LAMP3_ENST00000466939.1_Silent_p.V359V	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	383					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TCACAGGAAGCACAATTGTGT	0.463													25	100					1.66031e-10	3.16349e-10	1	0	A	182841971	C	A	182841971	2	1	222	1	0	0	0	0	0	0	0	1	8672	697	25	4		4	LAMP3	3	182841971	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3423085	182841971	15180459	230	39868											
MCF2L2	23101	broad.mit.edu	37	chr3	182924003	182924003	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaattgaaagtgtcatcagCtattataaagagggaagaga	17	9	11	4	1	2	3	2	1	0	2	2	6	2	4	0	1	1	1	0	1	7	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:182924003C>A	ENST00000328913.3	-	24	3010		c.e24-1		MCF2L2_ENST00000473233.1_Splice_Site|MCF2L2_ENST00000468976.1_Splice_Site	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2						regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GTGTCATCAGCTATTATAAAG	0.408													25	133					4.26978e-12	8.34722e-12	1	0	A	182924003	C	A	182924003	5	1	222	1	0	0	0	0	0	0	1	0	9449	811	28	4	660	4	MCF2L2	3	182924003	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	82032	182924003	15098427	231	39869											
YEATS2	55689	broad.mit.edu	37	chr3	183508669	183508669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaagtgtgtgtgagccagGccaccgtgggaacctgcaag	10	6	15	10	1	0	1	0	1	0	0	0	2	0	2	4	2	4	2	4	2	3	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:183508669G>A	ENST00000305135.5	+	21	3193	c.2998G>A	c.(2998-3000)Gcc>Acc	p.A1000T		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1000					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGTGAGCCAGGCCACCGTGGG	0.597													32	140					0	0	0	0	A	183508669	G	A	183508669	3	1	222	1	0	0	0	0	1	0	0	0	17568	1203	42	4	3076	4	YEATS2	3	183508669	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	584666	183508669	14513761	232	39870											
HTR3E	285242	broad.mit.edu	37	chr3	183823166	183823166	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgggcctcagcaaggccaCcgcaaagttgtccaggggag	9	5	14	13	1	1	0	1	0	0	0	2	1	2	1	5	4	1	3	5	4	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:183823166C>A	ENST00000415389.2	+	6	1137	c.671C>A	c.(670-672)aCc>aAc	p.T224N	HTR3E_ENST00000440596.2_Missense_Mutation_p.T250N|HTR3E_ENST00000436361.2_Missense_Mutation_p.T224N|HTR3E_ENST00000335304.2_Missense_Mutation_p.T239N|HTR3E_ENST00000425359.2_Missense_Mutation_p.T209N	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	224						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGCAAGGCCACCGCAAAGTTG	0.527													17	70					1.15088e-07	2.03777e-07	1	0	A	183823166	C	A	183823166	3	1	222	1	0	0	0	0	1	0	0	0	7501	507	18	4	734	4	HTR3E	3	183823166	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	314497	183823166	14199264	233	39871											
IL1RAP	3556	broad.mit.edu	37	chr3	190326880	190326880	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaactcccagtgcataaactGtatatagaatatggcattca	16	11	6	8	0	1	1	1	0	0	1	2	1	2	1	1	1	3	3	1	1	8	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:190326880G>T	ENST00000412504.2	+	4	699	c.447G>T	c.(445-447)ctG>ctT	p.L149L	IL1RAP_ENST00000443369.2_Silent_p.L149L|IL1RAP_ENST00000439062.1_Silent_p.L149L|IL1RAP_ENST00000422940.1_Silent_p.L149L|IL1RAP_ENST00000434491.1_Silent_p.L8L|IL1RAP_ENST00000447382.1_Silent_p.L149L|IL1RAP_ENST00000317757.3_Silent_p.L149L|IL1RAP_ENST00000422485.1_Silent_p.L149L|IL1RAP_ENST00000072516.3_Silent_p.L149L			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	149	Ig-like C2-type 2.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TGCATAAACTGTATATAGAAT	0.388													26	115					1.42536e-11	2.77816e-11	1	0	T	190326880	G	T	190326880	2	4	222	1	0	0	0	0	0	0	0	1	7713	1364	48	4		4	IL1RAP	3	190326880	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	6503714	190326880	7695550	234	39872											
PYDC2	152138	broad.mit.edu	37	chr3	191179206	191179206	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatcaaacgcatctgtcTgggagagctgatgaacactg	13	9	11	8	1	3	4	1	3	2	1	3	5	3	4	0	1	3	2	0	1	3	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:191179206T>G	ENST00000518817.1	+	1	255	c.255T>G	c.(253-255)tcT>tcG	p.S85S		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	85	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						CGCATCTGTCTGGGAGAGCTG	0.517													30	180					0	0	0	0	G	191179206	T	G	191179206	2	3	222	1	0	0	0	0	0	0	0	1	12941	1567	55	5		5	PYDC2	3	191179206	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	852326	191179206	6843224	235	39873											
ACAP2	23527	broad.mit.edu	37	chr3	195012437	195012437	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagcactgcagttacccTgtgtgccctaagacggtggc	9	9	12	11	1	0	2	0	1	0	1	0	2	0	2	2	2	4	3	2	2	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:195012437T>A	ENST00000326793.6	-	20	2291	c.2061A>T	c.(2059-2061)acA>acT	p.T687T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	687					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCAGTTACCCTGTGTGCCCTA	0.403													19	114					0	0	0	0	A	195012437	T	A	195012437	2	1	222	1	0	0	0	0	0	0	0	1	119	1567	55	5		5	ACAP2	3	195012437	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	3833231	195012437	3009993	236	39874											
LMLN	89782	broad.mit.edu	37	chr3	197746225	197746225	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccgtgtgtaatttgcagaAgttccctaagcctttaccac	9	13	8	11	1	0	1	0	0	0	1	1	1	1	1	4	0	4	3	4	0	4	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:197746225A>T	ENST00000330198.4	+	12	1356	c.1334A>T	c.(1333-1335)aAg>aTg	p.K445M	LMLN_ENST00000420910.2_Missense_Mutation_p.K482M|LMLN_ENST00000332636.5_Missense_Mutation_p.K393M|LMLN_ENST00000482695.1_Missense_Mutation_p.K430M	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	445					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		AATTTGCAGAAGTTCCCTAAG	0.468													16	67					0	0	0	0	T	197746225	A	T	197746225	3	4	222	1	0	0	0	0	1	0	0	0	8902	72	3	5	1495	5	LMLN	3	197746225	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2733788	197746225	276205	237	39875											
GAK	2580	broad.mit.edu	37	chr4	860744	860745	+	Splice_Site	INS	-	-	A																															tcagaacagaaacacgtaccINSagcggcagggggccctcctc																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:860744_860745insA	ENST00000314167.4	-	21	2981_2982	c.2872_splice	c.e21+1	p.*958_splice	GAK_ENST00000511163.1_Splice_Site_p.*879_splice|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	958					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AAACACGTACCAGCGGCAGGGG	0.629													45	106	---	---	---	---					A	860745	-	A	860744	8	5	222	1	0	1	1	0	0	0	1	0	6244	608	21	0	1095	0	GAK	4	860744	Splice_Site	INS	-	TCGA-CR-7402-01A-11D-2012-08		860744	190293532	238	39876											
NOP14	8602	broad.mit.edu	37	chr4	2958516	2958516	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttcatttagattgtagAtgctttttttctcatgatgt	8	21	6	6	0	3	3	2	1	2	2	4	3	3	3	0	0	1	2	0	0	2	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:2958516A>G	ENST00000416614.2	-	3	418	c.353T>C	c.(352-354)aTc>aCc	p.I118T	NOP14_ENST00000314262.6_Missense_Mutation_p.I118T|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.I118T|NOP14_ENST00000502735.1_Missense_Mutation_p.I118T			P78316	NOP14_HUMAN	NOP14 nucleolar protein	118					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TAGATTGTAGATGCTTTTTTT	0.358													7	40					0	0	0	0	G	2958516	A	G	2958516	3	3	222	1	0	0	0	0	1	0	0	0	10606	333	12	5	2284	5	NOP14	4	2958516	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2097772	2958516	188195760	239	39877											
OTOP1	133060	broad.mit.edu	37	chr4	4199579	4199579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaggtataccaccaccaCagcaatggtggcggccagca	13	5	10	13	1	1	0	1	0	0	0	1	0	1	0	4	4	3	3	4	4	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:4199579C>T	ENST00000296358.4	-	5	1006	c.982G>A	c.(982-984)Gtg>Atg	p.V328M		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	328					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACCACCACAGCAATGGTG	0.547													24	52					0	0	0	0	T	4199579	C	T	4199579	3	4	222	1	0	0	0	0	1	0	0	0	11376	478	17	4	864	4	OTOP1	4	4199579	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1241063	4199579	186954697	240	39878											
C4orf6	10141	broad.mit.edu	37	chr4	5527953	5527953	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatacaggaactgcagaCactgcagataaaacagagcc	17	5	8	11	0	0	3	0	0	0	3	0	4	0	4	1	1	7	2	1	1	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:5527953C>T	ENST00000195455.2	+	2	352	c.177C>T	c.(175-177)gaC>gaT	p.D59D	C4orf6_ENST00000515342.1_3'UTR	NM_005750.2	NP_005741.1	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	59					nervous system development					large_intestine(1)|prostate(1)	2						GAACTGCAGACACTGCAGATA	0.448													18	51					0	0	0	0	T	5527953	C	T	5527953	2	4	222	1	0	0	0	0	0	0	0	1	2299	477	17	4		4	C4orf6	4	5527953	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1328374	5527953	185626323	241	39879											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107405	6107405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatcgaaggccctgcgcGcctcctcgcgcgcctcggtc	3	7	11	20	7	0	0	0	0	0	0	6	1	2	0	5	2	1	0	5	2	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:6107405G>T	ENST00000409021.3	-	3	868	c.419C>A	c.(418-420)gCg>gAg	p.A140E	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.A140E|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.A140E	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	140	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCCCTGCGCGCCTCCTCGCG	0.701													5	9					3.59834e-05	5.93543e-05	1	0	T	6107405	G	T	6107405	3	4	222	1	0	0	0	0	1	0	0	0	7993	1087	38	3	2227	3	JAKMIP1	4	6107405	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	579452	6107405	185046871	242	39880											
WFS1	7466	broad.mit.edu	37	chr4	6296916	6296916	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctgccactgcgtctgaaGgtgagtgaccaagaccccgg	9	6	13	13	2	1	4	0	3	1	1	1	5	1	4	5	2	2	0	5	2	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:6296916G>T	ENST00000226760.1	+	7	1031	c.861_splice	c.e7+1	p.K287_splice	WFS1_ENST00000503569.1_Splice_Site_p.K287_splice	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	287					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGCGTCTGAAGGTGAGTGACC	0.657													24	45					3.80469e-20	8.74184e-20	1	0	T	6296916	G	T	6296916	5	4	222	1	0	0	0	0	0	0	1	0	17456	1014	35	4	883	4	WFS1	4	6296916	Splice_Site	SNP	G	TCGA-CR-7402-01A-11D-2012-08	189511	6296916	184857360	243	39881											
CD38	952	broad.mit.edu	37	chr4	15780186	15780186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgaggtggcgccagcagtGgagcggtccgggcaccacca	7	3	16	15	4	0	0	0	0	0	0	1	2	1	1	5	5	2	2	5	5	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:15780186G>T	ENST00000226279.2	+	1	286	c.149G>T	c.(148-150)tGg>tTg	p.W50L		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	50					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						CGCCAGCAGTGGAGCGGTCCG	0.617													36	84					2.87052e-16	6.20833e-16	1	0	T	15780186	G	T	15780186	3	4	222	1	0	0	0	0	1	0	0	0	3038	1357	47	4	151	4	CD38	4	15780186	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	9483270	15780186	175374090	244	39882											
SLIT2	9353	broad.mit.edu	37	chr4	20255599	20255599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgtgcccaggaatatccCccgcaacaccgagagactgt	11	5	10	15	3	0	1	0	0	0	1	1	4	1	2	4	1	3	1	4	1	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:20255599C>A	ENST00000504154.1	+	1	413	c.161C>A	c.(160-162)cCc>cAc	p.P54H	SLIT2_ENST00000503823.1_Missense_Mutation_p.P54H|SLIT2_ENST00000273739.5_Missense_Mutation_p.P54H|SLIT2_ENST00000503837.1_Missense_Mutation_p.P54H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	54	LRRNT.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGGAATATCCCCCGCAACACC	0.667													20	65					9.95505e-16	2.12716e-15	1	0	A	20255599	C	A	20255599	3	1	222	1	0	0	0	0	1	0	0	0	14828	623	22	4	163	4	SLIT2	4	20255599	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4475413	20255599	170898677	245	39883											
SLIT2	9353	broad.mit.edu	37	chr4	20568976	20568976	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatagtgatccagttgaCttttaccgatgcacctgtcc	9	14	8	10	1	0	2	0	2	0	0	2	3	2	2	4	0	2	3	4	0	3	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:20568976C>T	ENST00000504154.1	+	27	3069	c.2817C>T	c.(2815-2817)gaC>gaT	p.D939D	SLIT2_ENST00000503823.1_Silent_p.D931D|SLIT2_ENST00000273739.5_Silent_p.D943D|SLIT2_ENST00000503837.1_Silent_p.D935D	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	939	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATCCAGTTGACTTTTACCGAT	0.383													32	79					0	0	0	0	T	20568976	C	T	20568976	2	4	222	1	0	0	0	0	0	0	0	1	14828	564	20	4		4	SLIT2	4	20568976	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	313377	20568976	170585300	246	39884											
GBA3	57733	broad.mit.edu	37	chr4	22729135	22729135	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgacagccttcaggtcacGggccagcttttcagcagtct	7	11	10	13	1	4	1	3	1	1	0	4	1	4	1	2	2	3	2	2	2	0	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:22729135G>T	ENST00000503442.1	+	0	149				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						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						TTCAGGTCACGGGCCAGCTTT	0.473													87	213					6.20368e-34	1.53364e-33	1	0	T	22729135	G	T	22729135	1	4	222	0	1	0	0	0	0	0	0	0	6317	1131	39	3		3	GBA3	4	22729135	RNA	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2160159	22729135	168425141	247	39885											
ZCCHC4	29063	broad.mit.edu	37	chr4	25314461	25314461	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaatgggtttgaagcCgtggaggcagagggcagcgc	9	6	18	8	2	0	2	0	1	0	1	1	4	1	4	2	5	2	3	2	5	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:25314461C>A	ENST00000302874.4	+	1	54	c.30C>A	c.(28-30)gcC>gcA	p.A10A	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	10							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GGTTTGAAGCCGTGGAGGCAG	0.652											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	108					6.7651e-33	1.66401e-32	1	0	A	25314461	C	A	25314461	2	1	222	1	0	0	0	0	0	0	0	1	17685	639	23	3		3	ZCCHC4	4	25314461	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2585326	25314461	165839815	248	39886											
PCDH7	5099	broad.mit.edu	37	chr4	30725162	30725162	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaccgggaacatcagacCacatacactttcagagtcaa	14	9	7	11	1	3	3	3	1	0	2	3	4	3	4	2	1	2	0	2	1	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:30725162C>T	ENST00000361762.2	+	1	3126	c.2118C>T	c.(2116-2118)acC>acT	p.T706T	PCDH7_ENST00000543491.1_Silent_p.T706T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	706	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AACATCAGACCACATACACTT	0.443													29	70					0	0	0	0	T	30725162	C	T	30725162	2	4	222	1	0	0	0	0	0	0	0	1	11587	581	21	4		4	PCDH7	4	30725162	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	5410701	30725162	160429114	249	39887											
ARAP2	116984	broad.mit.edu	37	chr4	36230489	36230489	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtctgcattagggagcttaCtgagattttctgtgatcaat	10	15	10	6	0	3	2	1	2	2	1	3	4	3	3	0	1	3	2	0	1	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:36230489C>G	ENST00000303965.4	-	2	1109	c.620G>C	c.(619-621)aGt>aCt	p.S207T		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	207					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGGGAGCTTACTGAGATTTTC	0.338													25	84					0	0	0	0	G	36230489	C	G	36230489	3	3	222	1	0	0	0	0	1	0	0	0	841	565	20	4	4622	4	ARAP2	4	36230489	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	5505327	36230489	154923787	250	39888											
TBC1D1	23216	broad.mit.edu	37	chr4	37903767	37903767	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgctttctaacgaggtCtcggtggattttggcctgca	6	14	11	10	2	3	0	0	0	3	0	4	2	3	1	1	4	3	2	1	4	1	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:37903767C>A	ENST00000261439.4	+	2	406	c.51C>A	c.(49-51)gtC>gtA	p.V17V	TBC1D1_ENST00000508802.1_Silent_p.V17V|TBC1D1_ENST00000402522.1_Silent_p.V17V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	17						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTAACGAGGTCTCGGTGGATT	0.522													31	73					3.99451e-17	8.73603e-17	1	0	A	37903767	C	A	37903767	2	1	222	1	0	0	0	0	0	0	0	1	15688	900	32	2		2	TBC1D1	4	37903767	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1673278	37903767	153250509	251	39889											
KLB	152831	broad.mit.edu	37	chr4	39408952	39408952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcacgaatggttccaGtgacagttatatttttctgg	10	13	10	8	1	1	1	0	1	1	0	2	2	2	1	1	2	2	4	1	2	3	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:39408952G>T	ENST00000257408.4	+	1	480	c.383G>T	c.(382-384)aGt>aTt	p.S128I		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	128	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AATGGTTCCAGTGACAGTTAT	0.398													37	113					2.09667e-21	4.89222e-21	1	0	T	39408952	G	T	39408952	3	4	222	1	0	0	0	0	1	0	0	0	8384	1029	36	4	385	4	KLB	4	39408952	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1505185	39408952	151745324	252	39890											
SLC30A9	10463	broad.mit.edu	37	chr4	42022531	42022531	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagttctgcctcaaatccAggtaatttttttaaaaaatg	14	15	6	6	0	2	1	1	1	1	0	3	1	3	1	2	1	1	2	2	1	5	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:42022531A>T	ENST00000264451.6	+	4	613	c.434_splice	c.e4+1	p.S145_splice		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	145					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCTCAAATCCAGGTAATTTTT	0.348													30	67					0	0	0	0	T	42022531	A	T	42022531	5	4	222	1	0	0	0	0	0	0	1	0	14650	202	7	5	447	5	SLC30A9	4	42022531	Splice_Site	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2613579	42022531	149131745	253	39891											
KCTD8	386617	broad.mit.edu	37	chr4	44450416	44450416	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctccactacttcagggAagggcgagggtgcgcagggc	8	6	16	11	2	2	0	2	0	0	0	3	2	3	1	1	4	3	2	1	4	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:44450416A>T	ENST00000360029.3	-	1	408	c.125T>A	c.(124-126)tTc>tAc	p.F42Y		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	42						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TACTTCAGGGAAGGGCGAGGG	0.667										HNSCC(17;0.042)			5	24					0	0	0	0	T	44450416	A	T	44450416	3	4	222	1	0	0	0	0	1	0	0	0	8168	246	9	5	1304	5	KCTD8	4	44450416	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2427885	44450416	146703860	254	39892											
LRRC66	339977	broad.mit.edu	37	chr4	52860966	52860966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacattgtccttgcttgccCctgagctctcgtcctgcagg	4	13	9	15	1	2	1	1	1	1	0	5	1	4	1	4	1	4	3	4	1	0	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:52860966C>A	ENST00000343457.3	-	4	2228	c.2222G>T	c.(2221-2223)gGg>gTg	p.G741V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	741						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTTGCTTGCCCCTGAGCTCTC	0.493													37	96					9.62906e-15	2.0156e-14	1	0	A	52860966	C	A	52860966	3	1	222	1	0	0	0	0	1	0	0	0	9082	623	22	4	424	4	LRRC66	4	52860966	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	8410550	52860966	138293310	255	39893											
PDGFRA	5156	broad.mit.edu	37	chr4	55139799	55139799	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagtaccgtggagggccGtgtgactttcgccaaagtgg	8	8	16	9	3	0	1	0	1	0	0	1	3	0	3	3	4	1	1	3	4	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:55139799G>C	ENST00000257290.5	+	10	1791	c.1460G>C	c.(1459-1461)cGt>cCt	p.R487P	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	487	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTGGAGGGCCGTGTGACTTTC	0.522			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			28	78					0	0	0	0	C	55139799	G	C	55139799	3	2	222	1	0	0	0	0	1	0	0	0	11732	1145	40	3	1494	3	PDGFRA	4	55139799	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2278833	55139799	136014477	256	39894											
KIT	3815	broad.mit.edu	37	chr4	55598063	55598063	+	Frame_Shift_Del	DEL	C	C	-																															acatagaaagagatgtgactCccgccatcatggaggatgac																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:55598063delC	ENST00000288135.5	+	16	2357	c.2260delC	c.(2260-2262)ccfs	p.P754fs		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	754	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGATGTGACTCCCGCCATCAT	0.468		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				26	96	---	---	---	---					-	55598063	C	-	55598063	7	5	222	1	0	1	0	1	0	0	0	0	8381	855	30	0	2322	0	KIT	4	55598063	Frame_Shift_Del	DEL	C	TCGA-CR-7402-01A-11D-2012-08	458264	55598063	135556213	257	39895											
KIT	3815	broad.mit.edu	37	chr4	55604710	55604710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagcctctgcttgtgcAcgacgatgtctgagcagaat	8	10	10	13	2	2	2	0	1	2	1	3	4	3	2	2	0	4	3	2	0	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:55604710A>G	ENST00000288135.5	+	21	3015	c.2918A>G	c.(2917-2919)cAc>cGc	p.H973R		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	973					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGCTTGTGCACGACGATGTC	0.512		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				46	111					0	0	0	0	G	55604710	A	G	55604710	3	3	222	1	0	0	0	0	1	0	0	0	8381	159	6	5	3000	5	KIT	4	55604710	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	6647	55604710	135549566	258	39896											
AASDH	132949	broad.mit.edu	37	chr4	57215852	57215852	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctagtggaattcagagAcaaaatttgactccctctgc	14	10	7	10	0	2	2	1	1	1	1	3	4	3	3	2	1	2	0	2	1	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:57215852A>T	ENST00000205214.6	-	11	2245	c.2065T>A	c.(2065-2067)Tct>Act	p.S689T	AASDH_ENST00000451613.1_Missense_Mutation_p.S689T|AASDH_ENST00000602986.1_Missense_Mutation_p.S536T|AASDH_ENST00000434343.2_Missense_Mutation_p.S204T|AASDH_ENST00000502617.1_Missense_Mutation_p.S689T|AASDH_ENST00000513376.1_Missense_Mutation_p.S589T	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	689					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GAATTCAGAGACAAAATTTGA	0.393													24	79					0	0	0	0	T	57215852	A	T	57215852	3	4	222	1	0	0	0	0	1	0	0	0	22	275	10	5	1251	5	AASDH	4	57215852	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1611142	57215852	133938424	259	39897											
LPHN3	23284	broad.mit.edu	37	chr4	62933931	62933932	+	Frame_Shift_Ins	INS	-	-	A																															aaagctaaacattgcatatcINSaaatgtaattttttttagtt																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:62933931_62933932insA	ENST00000512091.1	+	25	4405_4406	c.3658_3659insA	c.(3658-3660)aatfs	p.N1220fs	LPHN3_ENST00000514157.1_Frame_Shift_Ins_p.N1254fs|LPHN3_ENST00000514591.1_Intron|LPHN3_ENST00000508946.1_Intron|LPHN3_ENST00000509896.1_Frame_Shift_Ins_p.N1288fs|LPHN3_ENST00000514996.1_Intron|LPHN3_ENST00000506720.1_Intron|LPHN3_ENST00000545650.1_Intron|LPHN3_ENST00000511324.1_Frame_Shift_Ins_p.N1279fs|LPHN3_ENST00000506700.1_Frame_Shift_Ins_p.N1211fs|LPHN3_ENST00000507625.1_Intron|LPHN3_ENST00000508693.1_Frame_Shift_Ins_p.N1331fs|LPHN3_ENST00000506746.1_Intron|LPHN3_ENST00000504896.1_Frame_Shift_Ins_p.N1263fs|LPHN3_ENST00000507164.1_Frame_Shift_Ins_p.N1322fs			Q9HAR2	LPHN3_HUMAN	latrophilin 3	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CATTGCATATCAAATGTAATTT	0.307													12	68	---	---	---	---					A	62933932	-	A	62933931	7	5	222	1	0	1	1	0	0	0	0	0	8981	841	29	0		0	LPHN3	4	62933931	Frame_Shift_Ins	INS	-	TCGA-CR-7402-01A-11D-2012-08	5718079	62933931	128220345	260	39898											
TECRL	253017	broad.mit.edu	37	chr4	65275045	65275045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctctcttgcgttccgaagCgagggacttgtgccttttga	5	14	12	10	3	1	1	0	1	1	0	3	4	2	2	2	1	4	2	2	1	1	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:65275045C>A	ENST00000381210.3	-	1	135	c.25G>T	c.(25-27)Gct>Tct	p.A9S	TECRL_ENST00000507440.1_Missense_Mutation_p.A9S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	9					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CGTTCCGAAGCGAGGGACTTG	0.393													25	57					4.59853e-10	8.70245e-10	1	0	A	65275045	C	A	65275045	3	1	222	1	0	0	0	0	1	0	0	0	15840	768	27	3	1114	3	TECRL	4	65275045	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2341114	65275045	125879231	261	39899											
EPHA5	2044	broad.mit.edu	37	chr4	66356139	66356139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagacacatactgccgggctCctgggctcaagtcggacact	9	7	11	14	2	1	1	1	0	0	1	3	2	2	2	2	3	2	2	2	3	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:66356139C>G	ENST00000273854.3	-	5	1958	c.1358G>C	c.(1357-1359)gGa>gCa	p.G453A	EPHA5_ENST00000511294.1_Missense_Mutation_p.G453A|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.G453A	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	453	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTGCCGGGCTCCTGGGCTCAA	0.468										TSP Lung(17;0.13)			21	58					0	0	0	0	G	66356139	C	G	66356139	3	3	222	1	0	0	0	0	1	0	0	0	5208	855	30	2	1811	2	EPHA5	4	66356139	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1081094	66356139	124798137	262	39900											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68919756	68919756	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtaccagatgtcatgattAtcataaaccagaggtccacc	14	10	7	10	0	2	3	2	1	0	2	3	3	3	3	4	1	2	1	4	1	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:68919756A>T	ENST00000356291.2	-	10	1247	c.1188T>A	c.(1186-1188)gaT>gaA	p.D396E	RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	396	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TGTCATGATTATCATAAACCA	0.368													16	45					0	0	0	0	T	68919756	A	T	68919756	3	4	222	1	0	0	0	0	1	0	0	0	16337	446	16	5	132	5	TMPRSS11F	4	68919756	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2563617	68919756	122234520	263	39901											
UGT2B11	10720	broad.mit.edu	37	chr4	70080161	70080161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgtctgaccatctcttaaCctgttgcatgatgatattct	10	16	6	9	0	3	3	0	3	3	0	4	3	3	3	2	0	2	2	2	0	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:70080161C>A	ENST00000446444.1	-	1	288	c.280G>T	c.(280-282)Gtt>Ttt	p.V94F	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	94					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CATCTCTTAACCTGTTGCATG	0.313													48	118					4.64027e-19	1.055e-18	1	0	A	70080161	C	A	70080161	3	1	222	1	0	0	0	0	1	0	0	0	17053	507	18	4	1333	4	UGT2B11	4	70080161	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1160405	70080161	121074115	264	39902											
CSN2	1447	broad.mit.edu	37	chr4	70823471	70823471	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataggttcaacgaatggatAgatcagaggctgtggctgga	12	9	15	5	1	2	2	2	0	0	2	2	6	2	4	0	5	1	3	0	5	4	3	rs139725489		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:70823471A>T	ENST00000353151.3	-	5	207	c.196T>A	c.(196-198)Tat>Aat	p.Y66N		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	66					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						ACGAATGGATAGATCAGAGGC	0.443													21	56					0	0	0	0	T	70823471	A	T	70823471	3	4	222	1	0	0	0	0	1	0	0	0	3980	420	15	5	492	5	CSN2	4	70823471	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	743310	70823471	120330805	265	39903											
AFP	174	broad.mit.edu	37	chr4	74318195	74318195	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgttggccagtgctgcacTtcttcatatgccaacaggag	8	11	12	10	0	2	0	1	0	1	0	2	1	2	1	2	3	4	3	2	3	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:74318195T>A	ENST00000395792.2	+	12	1606	c.1506T>A	c.(1504-1506)acT>acA	p.T502T	AFP_ENST00000226359.2_Silent_p.T502T	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	502	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGTGCTGCACTTCTTCATATG	0.443									Alpha-Fetoprotein, Hereditary Persistence of				27	76					0	0	0	0	A	74318195	T	A	74318195	2	1	222	1	0	0	0	0	0	0	0	1	363	1596	56	5		5	AFP	4	74318195	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	3494724	74318195	116836081	266	39904											
HERC5	51191	broad.mit.edu	37	chr4	89407376	89407376	+	Silent	SNP	T	T	C																															aggtacttgtggaaaatgacTgtggtaggtatagcatgttt																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:89407376T>C	ENST00000264350.3	+	14	2001	c.1848T>C	c.(1846-1848)acT>acC	p.T616T	HERC5_ENST00000508159.1_Silent_p.T254T	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	616					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	p.T616T(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GGAAAATGACTGTGGTAGGTA	0.373													13	32					0	0	0	0	C	89407376	T	C	89407376	2	2	222	1	0	0	0	0	0	0	0	1	7111	1567	55	5		5	HERC5	4	89407376	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	15089181	89407376	101746900	267	39905	298	2									
HERC5	51191	broad.mit.edu	37	chr4	89407377	89407377	+	Missense_Mutation	SNP	G	G	T																															ggtacttgtggaaaatgactGtggtaggtatagcatgttta																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:89407377G>T	ENST00000264350.3	+	14	2002	c.1849G>T	c.(1849-1851)Gtg>Ttg	p.V617L	HERC5_ENST00000508159.1_Missense_Mutation_p.V255L	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	617					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAAAATGACTGTGGTAGGTAT	0.373													12	32					3.07112e-06	5.2292e-06	1	0	T	89407377	G	T	89407377	3	4	222	1	0	0	0	0	1	0	0	0	7111	1377	48	4	1903	4	HERC5	4	89407377	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1	89407377	101746899	268	39906	298	2									
GRID2	2895	broad.mit.edu	37	chr4	94006343	94006343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actacactctctcagttcgcCcacctgtctacttgcatgat	8	13	5	15	1	3	1	1	1	2	0	5	1	3	1	2	0	3	2	2	0	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:94006343C>A	ENST00000282020.4	+	3	700	c.442C>A	c.(442-444)Cca>Aca	p.P148T	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	148					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTCAGTTCGCCCACCTGTCTA	0.478													29	77					7.26314e-15	1.52199e-14	1	0	A	94006343	C	A	94006343	3	1	222	1	0	0	0	0	1	0	0	0	6822	623	22	4	452	4	GRID2	4	94006343	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4598966	94006343	97147933	269	39907											
PDHA2	5161	broad.mit.edu	37	chr4	96761796	96761796	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgggggcaatggcatcgtCggtgcacagggccccctggg	6	7	17	11	2	0	0	0	0	0	0	2	0	0	0	2	6	1	3	2	6	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:96761796C>A	ENST00000295266.4	+	1	558	c.495C>A	c.(493-495)gtC>gtA	p.V165V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	165					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATGGCATCGTCGGTGCACAGG	0.507													26	69					3.28513e-13	6.58712e-13	1	0	A	96761796	C	A	96761796	2	1	222	1	0	0	0	0	0	0	0	1	11736	871	31	3		3	PDHA2	4	96761796	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2755453	96761796	94392480	270	39908											
BANK1	55024	broad.mit.edu	37	chr4	102951361	102951361	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attataaatagacctcctgcCcccacaccccgacccacaag	13	6	4	18	1	0	1	0	0	0	1	1	2	1	1	7	0	1	0	7	0	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:102951361C>A	ENST00000504592.1	+	14	2212	c.1794C>A	c.(1792-1794)gcC>gcA	p.A598A	BANK1_ENST00000322953.4_Silent_p.A613A|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000508653.1_Silent_p.A480A|BANK1_ENST00000444316.2_Silent_p.A583A|BANK1_ENST00000428908.1_Silent_p.A480A			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	613					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)		GACCTCCTGCCCCCACACCCC	0.373													25	48					6.32553e-13	1.26188e-12	1	0	A	102951361	C	A	102951361	2	1	222	1	0	0	0	0	0	0	0	1	1313	610	22	4		4	BANK1	4	102951361	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	6189565	102951361	88202915	271	39909											
LEF1	51176	broad.mit.edu	37	chr4	109088901	109088901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcccccccgccgccgccaCctcctccggagagttggggc	3	5	13	20	4	0	1	0	0	0	1	3	2	3	1	9	4	0	1	9	4	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:109088901C>T	ENST00000379951.2	-	1	1211	c.23G>A	c.(22-24)gGt>gAt	p.G8D	LEF1_ENST00000265165.1_Missense_Mutation_p.G8D|LEF1_ENST00000438313.2_Missense_Mutation_p.G8D|LEF1-AS1_ENST00000436413.1_RNA	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	8	CTNNB1-binding (By similarity).|Poly-Gly.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GCCGCCGCCACCTCCTCCGGA	0.642													33	83					0	0	0	0	T	109088901	C	T	109088901	3	4	222	1	0	0	0	0	1	0	0	0	8767	507	18	4	1317	4	LEF1	4	109088901	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	6137540	109088901	82065375	272	39910											
COL25A1	84570	broad.mit.edu	37	chr4	109745314	109745314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcaaacaaggtacatgctGggatggagaggtcacctttt	13	10	11	7	0	2	1	2	0	0	1	2	3	2	2	1	4	3	2	1	4	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:109745314G>T	ENST00000399126.1	-	35	2391	c.1861C>A	c.(1861-1863)Cag>Aag	p.Q621K	COL25A1_ENST00000399132.1_Intron|COL25A1_ENST00000399127.1_Missense_Mutation_p.Q624K	NM_032518.2	NP_115907.2	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	411	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGTACATGCTGGGATGGAGAG	0.453													27	59					2.44723e-14	5.07372e-14	1	0	T	109745314	G	T	109745314	3	4	222	1	0	0	0	0	1	0	0	0	3714	1357	47	4	203	4	COL25A1	4	109745314	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	656413	109745314	81408962	273	39911											
ENPEP	2028	broad.mit.edu	37	chr4	111470910	111470910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcttctggtgtatcggtatgGgatgcagaactctggcaatg	8	12	14	7	1	2	1	0	0	2	1	3	2	2	2	0	4	2	5	0	4	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:111470910G>T	ENST00000265162.5	+	17	2711	c.2369G>T	c.(2368-2370)gGg>gTg	p.G790V		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	790					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TATCGGTATGGGATGCAGAAC	0.388													16	62					1.99824e-07	3.52853e-07	1	0	T	111470910	G	T	111470910	3	4	222	1	0	0	0	0	1	0	0	0	5166	1232	43	4	2435	4	ENPEP	4	111470910	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1725596	111470910	79683366	274	39912											
ANK2	287	broad.mit.edu	37	chr4	114274328	114274328	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatttgatcaaaatgacCgccatcttgaccacagatgt	14	10	7	10	1	2	5	1	3	1	2	2	5	2	5	3	0	0	0	3	0	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:114274328C>A	ENST00000357077.4	+	38	4607	c.4554C>A	c.(4552-4554)acC>acA	p.T1518T	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1485					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAAAATGACCGCCATCTTGA	0.458													26	70					9.39395e-14	1.91507e-13	1	0	A	114274328	C	A	114274328	2	1	222	1	0	0	0	0	0	0	0	1	621	639	23	3		3	ANK2	4	114274328	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2803418	114274328	76879948	275	39913											
INPP4B	8821	broad.mit.edu	37	chr4	142950038	142950038	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttctgcatttgatattcTtcagtacattctctatgcgg	8	18	6	9	1	4	1	1	1	3	0	5	1	4	1	0	1	3	2	0	1	3	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:142950038T>C	ENST00000513000.1	-	27	3105	c.2672A>G	c.(2671-2673)aAg>aGg	p.K891R	INPP4B_ENST00000508116.1_Missense_Mutation_p.K891R|INPP4B_ENST00000262992.4_Missense_Mutation_p.K891R|INPP4B_ENST00000308502.4_Missense_Mutation_p.K891R	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	891					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTTGATATTCTTCAGTACATT	0.393													11	31					0	0	0	0	C	142950038	T	C	142950038	3	2	222	1	0	0	0	0	1	0	0	0	7806	1609	56	5	106	5	INPP4B	4	142950038	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	28675710	142950038	48204238	276	39914											
INPP4B	8821	broad.mit.edu	37	chr4	143235901	143235901	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatccttatgttctggtagGacactggttcgaacctgtgg	7	13	13	8	1	1	0	0	0	1	0	3	3	2	2	2	5	1	3	2	5	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:143235901G>T	ENST00000513000.1	-	9	820	c.387C>A	c.(385-387)gtC>gtA	p.V129V	INPP4B_ENST00000508116.1_Silent_p.V129V|INPP4B_ENST00000262992.4_Silent_p.V129V|INPP4B_ENST00000308502.4_Silent_p.V129V|INPP4B_ENST00000509777.1_Silent_p.V129V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	129	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GTTCTGGTAGGACACTGGTTC	0.433													36	99					9.17885e-22	2.1546e-21	1	0	T	143235901	G	T	143235901	2	4	222	1	0	0	0	0	0	0	0	1	7806	1161	41	2		2	INPP4B	4	143235901	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	285863	143235901	47918375	277	39915											
GYPB	2994	broad.mit.edu	37	chr4	144920591	144920591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaacgatggacaagttGtcccgtttctcctataaagc	12	11	9	9	2	1	1	0	1	1	0	3	3	2	2	2	1	2	2	2	1	5	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:144920591G>T	ENST00000283126.7	-	3	203	c.148C>A	c.(148-150)Caa>Aaa	p.Q50K	GYPB_ENST00000502664.1_Missense_Mutation_p.Q50K|GYPB_ENST00000513128.1_Missense_Mutation_p.Q17K|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000429670.2_Missense_Mutation_p.Q50K					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TGGACAAGTTGTCCCGTTTCT	0.328													4	11					0.00024832	0.000401132	1	0	T	144920591	G	T	144920591	3	4	222	1	0	0	0	0	1	0	0	0	6959	1386	48	4	139	4	GYPB	4	144920591	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1684690	144920591	46233685	278	39916											
GYPA	2993	broad.mit.edu	37	chr4	145035886	145035886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaggcacgtctgtgtcaGgtgaggggagaggttttaca	10	11	15	5	1	2	2	1	1	1	1	2	3	2	2	0	5	1	2	0	5	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:145035886G>T	ENST00000360771.4	-	6	507	c.392C>A	c.(391-393)cCt>cAt	p.P131H	GYPA_ENST00000324022.10_Missense_Mutation_p.P98H|GYPA_ENST00000535709.1_Missense_Mutation_p.P105H|GYPA_ENST00000503627.1_Missense_Mutation_p.P86H|GYPA_ENST00000504786.1_Missense_Mutation_p.P99H|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Missense_Mutation_p.P118H|GYPA_ENST00000512789.1_Missense_Mutation_p.P66H|GYPB_ENST00000283126.7_Intron	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	131					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GTCTGTGTCAGGTGAGGGGAG	0.328													13	31					7.93312e-07	1.37597e-06	1	0	T	145035886	G	T	145035886	3	4	222	1	0	0	0	0	1	0	0	0	6958	1000	35	4	68	4	GYPA	4	145035886	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	115295	145035886	46118390	279	39917											
DCHS2	54798	broad.mit.edu	37	chr4	155163899	155163899	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attagaaagcctgggcatccCtttatctgtggcttggacaa	10	12	10	9	0	1	1	0	0	1	1	2	2	2	2	2	3	1	2	2	3	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:155163899C>A	ENST00000357232.3	-	22	5601	c.5602G>T	c.(5602-5604)Ggg>Tgg	p.G1868W		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1868	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGGGCATCCCTTTATCTGTG	0.383													14	28					1.5739e-10	3.00178e-10	1	0	A	155163899	C	A	155163899	3	1	222	1	0	0	0	0	1	0	0	0	4320	681	24	4	3164	4	DCHS2	4	155163899	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	10128013	155163899	35990377	280	39918											
FGA	2243	broad.mit.edu	37	chr4	155505381	155505381	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcaatctcataaggactGttattccttgggtcatagga	10	15	8	8	0	3	0	3	0	2	0	6	2	4	2	1	3	0	1	1	3	4	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:155505381G>C	ENST00000302053.3	-	6	2574	c.2496C>G	c.(2494-2496)aaC>aaG	p.N832K		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	832	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CATAAGGACTGTTATTCCTTG	0.498													34	100					0	0	0	0	C	155505381	G	C	155505381	3	2	222	1	0	0	0	0	1	0	0	0	5875	1368	48	4	108	4	FGA	4	155505381	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	341482	155505381	35648895	281	39919											
LRAT	9227	broad.mit.edu	37	chr4	155665738	155665738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgacagacgacatggggcGcacgcagaaggtggtctcca	10	5	14	12	3	1	3	0	1	1	2	2	4	1	3	2	4	0	2	2	4	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:155665738G>T	ENST00000336356.3	+	2	513	c.260G>T	c.(259-261)cGc>cTc	p.R87L	LRAT_ENST00000507827.1_Missense_Mutation_p.R87L	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	87					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GACATGGGGCGCACGCAGAAG	0.597													20	51					1.56452e-12	3.09263e-12	1	0	T	155665738	G	T	155665738	3	4	222	1	0	0	0	0	1	0	0	0	8994	1087	38	3	262	3	LRAT	4	155665738	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	160357	155665738	35488538	282	39920											
GUCY1B3	2983	broad.mit.edu	37	chr4	156696131	156696131	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttccagaaaagaggcacAgttagatgaagaaggacagt	16	8	12	5	0	0	5	0	1	0	4	1	6	1	6	1	2	0	3	1	2	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:156696131A>T	ENST00000264424.8	+	3	171	c.89A>T	c.(88-90)cAg>cTg	p.Q30L	GUCY1B3_ENST00000513437.1_5'UTR|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.Q30L|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.Q30L|GUCY1B3_ENST00000507146.1_5'UTR|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.Q10L|GUCY1B3_ENST00000505154.1_5'UTR	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	30					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAAGAGGCACAGTTAGATGAA	0.318													41	92					0	0	0	0	T	156696131	A	T	156696131	3	4	222	1	0	0	0	0	1	0	0	0	6945	188	7	5	99	5	GUCY1B3	4	156696131	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1030393	156696131	34458145	283	39921											
GRIA2	2891	broad.mit.edu	37	chr4	158256999	158256999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgcagacacgaaaatttgGaatgggatggttggagaact	14	9	14	4	1	0	2	0	0	0	2	0	7	0	4	0	4	2	2	0	4	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:158256999G>T	ENST00000296526.7	+	10	1768	c.1443G>T	c.(1441-1443)tgG>tgT	p.W481C	GRIA2_ENST00000507898.1_Missense_Mutation_p.W434C|GRIA2_ENST00000393815.2_Missense_Mutation_p.W434C|GRIA2_ENST00000264426.9_Missense_Mutation_p.W481C|GRIA2_ENST00000449365.1_Missense_Mutation_p.W434C	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	481					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CGAAAATTTGGAATGGGATGG	0.433													5	11					1.024e-07	1.82971e-07	1	0	T	158256999	G	T	158256999	3	4	222	1	0	0	0	0	1	0	0	0	6818	1183	41	2	1481	2	GRIA2	4	158256999	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1560868	158256999	32897277	284	39922											
TKTL2	84076	broad.mit.edu	37	chr4	164394427	164394427	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaggattcgccatctcccaTaaggcagaacacccggtagc	11	7	10	13	2	1	2	0	1	1	1	3	3	1	3	3	3	2	2	3	3	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:164394427T>C	ENST00000280605.3	-	1	620	c.460A>G	c.(460-462)Atg>Gtg	p.M154V		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	154						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCATCTCCCATAAGGCAGAAC	0.542													30	80					0	0	0	0	C	164394427	T	C	164394427	3	2	222	1	0	0	0	0	1	0	0	0	16030	1406	49	5	1424	5	TKTL2	4	164394427	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	6137428	164394427	26759849	285	39923											
GALNTL6	442117	broad.mit.edu	37	chr4	173873316	173873316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcgcaagcagctcaaGtgcaaggacttcaaatggtt	12	8	12	9	1	2	0	2	0	0	0	2	2	2	1	0	2	5	6	0	2	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:173873316G>T	ENST00000506823.1	+	10	1935	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N	GALNTL6_ENST00000508122.1_Missense_Mutation_p.K409N	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	426						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AGCAGCTCAAGTGCAAGGACT	0.597													15	37					2.31682e-05	3.83779e-05	1	0	T	173873316	G	T	173873316	3	4	222	1	0	0	0	0	1	0	0	0	6274	1020	36	4	1312	4	GALNTL6	4	173873316	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	9478889	173873316	17280960	286	39924											
WWC2	80014	broad.mit.edu	37	chr4	184186193	184186193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggagaaaaccacttgtGtgtcggctgctgtgtctgat	7	13	14	7	1	1	2	0	1	1	1	2	3	1	2	1	3	2	2	1	3	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:184186193G>T	ENST00000403733.3	+	12	2171	c.1972G>T	c.(1972-1974)Gtg>Ttg	p.V658L	WWC2_ENST00000504005.1_Missense_Mutation_p.V340L|WWC2_ENST00000513834.1_Missense_Mutation_p.V609L|WWC2_ENST00000378925.3_Missense_Mutation_p.V560L|WWC2_ENST00000448232.2_Missense_Mutation_p.V658L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	658										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AACCACTTGTGTGTCGGCTGC	0.483													15	24					1.52009e-12	3.01089e-12	1	0	T	184186193	G	T	184186193	3	4	222	1	0	0	0	0	1	0	0	0	17508	1377	48	4	2018	4	WWC2	4	184186193	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	10312877	184186193	6968083	287	39925											
SORBS2	8470	broad.mit.edu	37	chr4	186533086	186533086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggttcctgggattttacCttcataccagttttgatcaa	8	17	8	8	0	2	1	2	1	0	0	3	2	3	2	3	2	2	3	3	2	3	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:186533086C>T	ENST00000431808.1	-	19	3495	c.2932G>A	c.(2932-2934)Ggt>Agt	p.G978S	SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000319471.9_Missense_Mutation_p.G609S|SORBS2_ENST00000437304.2_Missense_Mutation_p.G702S|SORBS2_ENST00000449407.2_Missense_Mutation_p.G522S|SORBS2_ENST00000448662.2_Missense_Mutation_p.G539S|SORBS2_ENST00000393528.3_Missense_Mutation_p.G544S|SORBS2_ENST00000284776.7_Missense_Mutation_p.G978S|SORBS2_ENST00000355634.5_Missense_Mutation_p.G1078S|SORBS2_ENST00000418609.1_Missense_Mutation_p.G882S			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	978	SH3 2.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGGATTTTACCTTCATACCAG	0.398													9	41					0	0	0	0	T	186533086	C	T	186533086	3	4	222	1	0	0	0	0	1	0	0	0	15016	681	24	4	386	4	SORBS2	4	186533086	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2346893	186533086	4621190	288	39926											
ZFP42	132625	broad.mit.edu	37	chr4	188924241	188924241	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggactcactttttgagTccttggaatacctaaagaaa	15	11	8	7	0	1	3	1	1	0	2	2	5	2	5	2	2	1	0	2	2	6	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:188924241T>A	ENST00000326866.4	+	4	688	c.280T>A	c.(280-282)Tcc>Acc	p.S94T	ZFP42_ENST00000509524.1_Missense_Mutation_p.S94T	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	94					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ACTTTTTGAGTCCTTGGAATA	0.428													34	58					0	0	0	0	A	188924241	T	A	188924241	3	1	222	1	0	0	0	0	1	0	0	0	17745	1667	58	5	282	5	ZFP42	4	188924241	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2391155	188924241	2230035	289	39927											
TRIML2	205860	broad.mit.edu	37	chr4	189018271	189018271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcataaactcaggtctGtgatatgagcgggctccaga	10	10	13	8	1	2	3	1	2	1	1	3	3	3	3	1	3	2	2	1	3	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:189018271G>T	ENST00000512729.1	-	6	913	c.539C>A	c.(538-540)aCa>aAa	p.T180K	TRIML2_ENST00000326754.3_Missense_Mutation_p.T205K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	180							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ACTCAGGTCTGTGATATGAGC	0.498													31	95					4.74835e-14	9.75135e-14	1	0	T	189018271	G	T	189018271	3	4	222	1	0	0	0	0	1	0	0	0	16646	1377	48	4	632	4	TRIML2	4	189018271	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	94030	189018271	2136005	290	39928											
TRIML1	339976	broad.mit.edu	37	chr4	189060957	189060957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcgccaggcagctccGgtcccaggtgctgcagagcg	7	5	14	15	3	0	1	0	0	0	1	3	1	2	1	3	3	5	5	3	3	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:189060957G>T	ENST00000332517.3	+	1	385	c.245G>T	c.(244-246)cGg>cTg	p.R82L		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	82					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGCAGCTCCGGTCCCAGGTG	0.637													18	48					6.94344e-10	1.3102e-09	1	0	T	189060957	G	T	189060957	3	4	222	1	0	0	0	0	1	0	0	0	16645	1116	39	3	247	3	TRIML1	4	189060957	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	42686	189060957	2093319	291	39929											
ADCY2	108	broad.mit.edu	37	chr5	7789793	7789793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagacttcttatggaagaaCaaattcaaaaaagagcggga	18	9	9	5	1	2	3	1	0	1	3	2	5	2	5	0	2	2	0	0	2	8	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:7789793C>A	ENST00000338316.4	+	20	2597	c.2508C>A	c.(2506-2508)aaC>aaA	p.N836K	ADCY2_ENST00000537121.1_Missense_Mutation_p.N656K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	836					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATGGAAGAACAAATTCAAAA	0.483													26	93					2.12542e-12	4.1971e-12	1	0	A	7789793	C	A	7789793	3	1	222	1	0	0	0	0	1	0	0	0	294	477	17	4	2586	4	ADCY2	5	7789793	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08		7789793	173125467	292	39930											
DNAH5	1767	broad.mit.edu	37	chr5	13788868	13788868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatccacaaaatatgtGtcaattccacaatccaccaa	19	8	3	11	0	1	1	1	0	0	1	4	1	4	1	4	0	0	0	4	0	8	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:13788868G>T	ENST00000265104.4	-	51	8708	c.8604C>A	c.(8602-8604)gaC>gaA	p.D2868E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2868					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAATATGTGTCAATTCCAC	0.413									Kartagener syndrome				26	83					2.44723e-14	5.07372e-14	1	0	T	13788868	G	T	13788868	3	4	222	1	0	0	0	0	1	0	0	0	4641	1368	48	4	5386	4	DNAH5	5	13788868	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5999075	13788868	167126392	293	39931											
DNAH5	1767	broad.mit.edu	37	chr5	13864714	13864714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtccaaaaaagcctgcCagtccttcaaggcccgggga	11	6	11	13	1	2	0	2	0	0	0	4	1	4	1	5	4	2	0	5	4	4	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:13864714C>A	ENST00000265104.4	-	28	4492	c.4388G>T	c.(4387-4389)tGg>tTg	p.W1463L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1463	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAAGCCTGCCAGTCCTTCAA	0.507									Kartagener syndrome				23	51					9.95505e-16	2.12716e-15	1	0	A	13864714	C	A	13864714	3	1	222	1	0	0	0	0	1	0	0	0	4641	595	21	4	9694	4	DNAH5	5	13864714	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	75846	13864714	167050546	294	39932											
TRIO	7204	broad.mit.edu	37	chr5	14488346	14488346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggccagcgagcagtccGtgcagtccacccagagcaac	9	4	11	17	3	0	1	0	0	0	1	3	2	2	1	5	1	5	3	5	1	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:14488346G>T	ENST00000344204.4	+	48	7633	c.7609G>T	c.(7609-7611)Gtg>Ttg	p.V2537L	TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2537					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CGAGCAGTCCGTGCAGTCCAC	0.721													7	14					8.12818e-05	0.000132507	1	0	T	14488346	G	T	14488346	3	4	222	1	0	0	0	0	1	0	0	0	16647	1145	40	3	7799	3	TRIO	5	14488346	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	623632	14488346	166426914	295	39933											
CDH10	1008	broad.mit.edu	37	chr5	24537561	24537561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcattgtcattgatatCatgaattttgatcacaaact	12	16	6	7	0	4	3	4	3	0	0	4	3	4	3	0	1	1	1	0	1	3	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:24537561C>A	ENST00000264463.4	-	3	961	c.454G>T	c.(454-456)Gat>Tat	p.D152Y		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	152	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCATTGATATCATGAATTTTG	0.413										HNSCC(23;0.051)			45	100					2.24893e-16	4.88561e-16	1	0	A	24537561	C	A	24537561	3	1	222	1	0	0	0	0	1	0	0	0	3125	826	29	2	1952	2	CDH10	5	24537561	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	10049215	24537561	156377699	296	39934											
CDH6	1004	broad.mit.edu	37	chr5	31323216	31323216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttaaaggaaaatgacaCggaccccactgccccgccat	14	5	9	13	2	0	1	0	1	0	0	0	3	0	3	5	3	1	1	5	3	5	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:31323216C>A	ENST00000265071.2	+	12	2439	c.2174C>A	c.(2173-2175)aCg>aAg	p.T725K		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	725					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.T725K(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAAAATGACACGGACCCCACT	0.562													13	35					0.00010058	0.000163694	1	0	A	31323216	C	A	31323216	3	1	222	1	0	0	0	0	1	0	0	0	3143	536	19	3	2216	3	CDH6	5	31323216	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	6785655	31323216	149592044	297	39935											
TARS	6897	broad.mit.edu	37	chr5	33457373	33457373	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttcagaattcctccacGtactgggaaggcaaagcaga	12	10	10	9	1	1	2	1	0	0	2	3	3	3	3	2	2	2	4	2	2	4	4	rs113811412		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:33457373G>A	ENST00000265112.3	+	9	1160	c.849G>A	c.(847-849)acG>acA	p.T283T	TARS_ENST00000541634.1_Silent_p.T179T|TARS_ENST00000502553.1_Silent_p.T283T|TARS_ENST00000455217.2_Silent_p.T316T|TARS_ENST00000414361.2_Silent_p.T162T	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	283					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.T283T(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	ATTCCTCCACGTACTGGGAAG	0.388													11	38					0	0	0	0	A	33457373	G	A	33457373	2	1	222	1	0	0	0	0	0	0	0	1	15650	1132	40	1		1	TARS	5	33457373	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2134157	33457373	147457887	298	39936											
ADAMTS12	81792	broad.mit.edu	37	chr5	33643537	33643537	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgtccagcttagagcgacaAaagcccttcacggagcacca	12	5	10	14	3	1	1	1	0	0	1	2	3	2	2	3	1	4	2	3	1	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:33643537A>G	ENST00000504830.1	-	10	1853	c.1518T>C	c.(1516-1518)ttT>ttC	p.F506F	ADAMTS12_ENST00000352040.3_Silent_p.F506F|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	506	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGAGCGACAAAAGCCCTTCA	0.498										HNSCC(64;0.19)			28	79					0	0	0	0	G	33643537	A	G	33643537	2	3	222	1	0	0	0	0	0	0	0	1	257	11	1	5		5	ADAMTS12	5	33643537	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	186164	33643537	147271723	299	39937											
UGT3A1	133688	broad.mit.edu	37	chr5	35991303	35991303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagcaggaccccagaaaGaaggaaggccactagaagca	17	2	13	9	0	0	4	0	1	0	4	0	7	0	6	3	3	2	2	3	3	5	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:35991303G>T	ENST00000274278.3	-	1	397	c.40C>A	c.(40-42)Ctt>Att	p.L14I	UGT3A1_ENST00000507113.1_Missense_Mutation_p.L14I|UGT3A1_ENST00000503189.1_Missense_Mutation_p.L14I|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000333811.4_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	14						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)			ACCCCAGAAAGAAGGAAGGCC	0.612													33	79					6.00712e-18	1.33166e-17	1	0	T	35991303	G	T	35991303	3	4	222	1	0	0	0	0	1	0	0	0	17059	942	33	2	1641	2	UGT3A1	5	35991303	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2347766	35991303	144923957	300	39938											
RANBP3L	202151	broad.mit.edu	37	chr5	36260950	36260950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttttaaaagaacatttatCttcatttggttgacatctaa	13	17	5	6	0	3	2	1	1	2	1	3	2	3	2	0	1	1	2	0	1	5	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:36260950C>T	ENST00000296604.3	-	8	1086	c.601G>A	c.(601-603)Gat>Aat	p.D201N	RANBP3L_ENST00000502994.1_Missense_Mutation_p.D226N|RANBP3L_ENST00000515759.1_Missense_Mutation_p.D201N	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	201					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GAACATTTATCTTCATTTGGT	0.249													3	10					0	0	0	0	T	36260950	C	T	36260950	3	4	222	1	0	0	0	0	1	0	0	0	13112	913	32	2	824	2	RANBP3L	5	36260950	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	269647	36260950	144654310	301	39939											
C5orf42	65250	broad.mit.edu	37	chr5	37181062	37181062	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgatttgctctccctctCaatattgggtccaatctgac	8	15	6	12	0	4	2	1	2	4	0	7	2	5	2	2	1	1	1	2	1	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:37181062C>A	ENST00000274258.7	-	27	5697	c.2110G>T	c.(2110-2112)Gag>Tag	p.E704*	C5orf42_ENST00000425232.2_Nonsense_Mutation_p.E1823*|C5orf42_ENST00000508244.1_Nonsense_Mutation_p.E1823*			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1823										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)			CTCTCCCTCTCAATATTGGGT	0.388													9	33					4.68919e-08	8.41727e-08	1	0	A	37181062	C	A	37181062	4	1	222	1	0	0	0	0	0	1	0	0	2322	835	29	2	4230	2	C5orf42	5	37181062	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	920112	37181062	143734198	302	39940											
EGFLAM	133584	broad.mit.edu	37	chr5	38438424	38438424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagcatgacttcacctcCggagtgaatgtggagaatgc	11	9	13	8	1	1	4	1	3	0	1	2	6	2	5	2	2	2	1	2	2	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:38438424C>T	ENST00000322350.5	+	17	2677	c.2331C>T	c.(2329-2331)tcC>tcT	p.S777S	EGFLAM_ENST00000397202.2_Silent_p.S143S|EGFLAM_ENST00000336740.6_Silent_p.S543S|EGFLAM_ENST00000354891.3_Silent_p.S777S	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	777	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACTTCACCTCCGGAGTGAATG	0.512													15	43					0	0	0	0	T	38438424	C	T	38438424	2	4	222	1	0	0	0	0	0	0	0	1	5002	639	23	1		1	EGFLAM	5	38438424	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1257362	38438424	142476836	303	39941											
C9	735	broad.mit.edu	37	chr5	39289035	39289035	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcattttcactggaaccaGattatatataggagacagct	13	14	7	7	0	2	2	2	0	0	2	2	4	2	3	1	2	2	1	1	2	5	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:39289035G>C	ENST00000263408.4	-	10	1530	c.1435C>G	c.(1435-1437)Ctg>Gtg	p.L479V		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	479	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ACTGGAACCAGATTATATATA	0.313													20	40					0	0	0	0	C	39289035	G	C	39289035	3	2	222	1	0	0	0	0	1	0	0	0	2468	933	33	2	252	2	C9	5	39289035	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	850611	39289035	141626225	304	39942											
C9	735	broad.mit.edu	37	chr5	39342218	39342218	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgagacaaggatcgcatTgtgaccattcactccagggg	10	9	12	10	1	2	2	1	2	1	1	4	4	3	3	2	3	0	1	2	3	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:39342218T>A	ENST00000263408.4	-	2	253	c.158A>T	c.(157-159)cAa>cTa	p.Q53L	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	53	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGGATCGCATTGTGACCATTC	0.463													15	66					0	0	0	0	A	39342218	T	A	39342218	3	1	222	1	0	0	0	0	1	0	0	0	2468	1812	63	5	1561	5	C9	5	39342218	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	53183	39342218	141573042	305	39943											
SLC38A9	153129	broad.mit.edu	37	chr5	54945036	54945036	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgccaaaaagctcaccTggtacaaaaaattctgttgg	14	12	7	8	0	2	0	1	0	1	0	2	0	2	0	2	2	3	3	2	2	6	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:54945036T>C	ENST00000539768.1	-	9	1058	c.1060_splice	c.e9+1	p.P353_splice	SLC38A9_ENST00000318672.3_Splice_Site_p.P353_splice|SLC38A9_ENST00000396865.2_Splice_Site_p.P353_splice|SLC38A9_ENST00000512595.1_Intron|SLC38A9_ENST00000416547.2_Splice_Site_p.P229_splice|SLC38A9_ENST00000515629.1_Splice_Site_p.P290_splice			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	353					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AAAGCTCACCTGGTACAAAAA	0.303													6	12					0	0	0	0	C	54945036	T	C	54945036	5	2	222	1	0	0	0	0	0	0	1	0	14699	1594	55	5	650	5	SLC38A9	5	54945036	Splice_Site	SNP	T	TCGA-CR-7402-01A-11D-2012-08	15602818	54945036	125970224	306	39944											
BDP1	55814	broad.mit.edu	37	chr5	70819984	70819984	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgctggtgactcttcGggcttcccaggaagaagatg	8	9	14	10	1	1	3	0	1	1	2	3	4	2	4	2	4	1	2	2	4	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:70819984G>T	ENST00000358731.4	+	25	5869	c.5606G>T	c.(5605-5607)cGg>cTg	p.R1869L	BDP1_ENST00000380675.2_Missense_Mutation_p.R6L	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1869					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.R1869L(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTGACTCTTCGGGCTTCCCAG	0.468													36	94					2.26627e-22	5.34545e-22	1	0	T	70819984	G	T	70819984	3	4	222	1	0	0	0	0	1	0	0	0	1399	1116	39	3	5704	3	BDP1	5	70819984	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	15874948	70819984	110095276	307	39945											
TMEM171	134285	broad.mit.edu	37	chr5	72427521	72427521	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaatgctgcagctacAttcttgcctctatcttctga	12	13	6	10	0	4	2	0	1	4	1	4	2	4	2	1	0	5	3	1	0	5	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:72427521A>T	ENST00000454765.2	+	4	1412	c.939A>T	c.(937-939)acA>acT	p.T313T	TMEM171_ENST00000287773.5_Silent_p.T312T			Q8WVE6	TM171_HUMAN	transmembrane protein 171	313						integral to membrane		p.T313T(1)		endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		CTGCAGCTACATTCTTGCCTC	0.378													37	67					0	0	0	0	T	72427521	A	T	72427521	2	4	222	1	0	0	0	0	0	0	0	1	16182	204	8	5		5	TMEM171	5	72427521	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1607537	72427521	108487739	308	39946											
BHMT2	23743	broad.mit.edu	37	chr5	78378765	78378765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccggagaatgtgctgtgaGgctggtgaaggcaggtaatt	9	9	16	7	1	0	3	0	2	0	1	0	4	0	3	2	5	1	4	2	5	3	2	rs147230129		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:78378765G>A	ENST00000255192.3	+	5	650	c.584G>A	c.(583-585)aGg>aAg	p.R195K	BHMT2_ENST00000521567.1_Missense_Mutation_p.R131K|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	195	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	TGTGCTGTGAGGCTGGTGAAG	0.463													50	114					0	0	0	0	A	78378765	G	A	78378765	3	1	222	1	0	0	0	0	1	0	0	0	1431	1000	35	4	602	4	BHMT2	5	78378765	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5951244	78378765	102536495	309	39947											
CMYA5	202333	broad.mit.edu	37	chr5	79034639	79034639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacccatcatgttctggagCgtgcagatgaagcaggcagt	11	8	12	10	1	2	2	1	1	1	1	2	3	2	3	1	2	3	4	1	2	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:79034639C>A	ENST00000446378.2	+	2	10082	c.10051C>A	c.(10051-10053)Cgt>Agt	p.R3351S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3351						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGTTCTGGAGCGTGCAGATGA	0.488													21	46					4.35082e-09	8.00108e-09	1	0	A	79034639	C	A	79034639	3	1	222	1	0	0	0	0	1	0	0	0	3620	768	27	3	10057	3	CMYA5	5	79034639	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	655874	79034639	101880621	310	39948											
SERINC5	256987	broad.mit.edu	37	chr5	79470855	79470855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaggaagcctccgacggctCccacatagcgccaggctgca	10	4	12	15	3	0	1	0	0	0	1	2	3	2	2	4	3	3	3	4	3	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:79470855C>T	ENST00000507668.2	-	5	623	c.473G>A	c.(472-474)gGa>gAa	p.G158E	SERINC5_ENST00000509193.1_Missense_Mutation_p.G158E|SERINC5_ENST00000512721.1_Missense_Mutation_p.G158E|SERINC5_ENST00000512972.2_Missense_Mutation_p.G158E	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	158					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		TCCGACGGCTCCCACATAGCG	0.468													5	8					0	0	0	0	T	79470855	C	T	79470855	3	4	222	1	0	0	0	0	1	0	0	0	14170	855	30	2	982	2	SERINC5	5	79470855	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	436216	79470855	101444405	311	39949											
ANKRD34B	340120	broad.mit.edu	37	chr5	79855120	79855120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggagcgtgggggagcttgGgccccttaggggccaatgca	6	7	19	9	1	0	0	0	0	0	0	0	2	0	2	3	6	3	2	3	6	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:79855120G>T	ENST00000338682.3	-	5	1391	c.719C>A	c.(718-720)cCc>cAc	p.P240H		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	240						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GGGGAGCTTGGGCCCCTTAGG	0.527													16	48					1.3612e-06	2.34223e-06	1	0	T	79855120	G	T	79855120	3	4	222	1	0	0	0	0	1	0	0	0	662	1232	43	4	829	4	ANKRD34B	5	79855120	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	384265	79855120	101060140	312	39950											
GPR98	84059	broad.mit.edu	37	chr5	89930999	89930999	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccctagatttggggaaatCtgcaatatttctttactggt	10	15	9	7	0	2	1	0	0	2	1	2	2	2	2	1	3	3	1	1	3	5	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:89930999C>T	ENST00000405460.2	+	10	2004	c.1908C>T	c.(1906-1908)atC>atT	p.I636I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	636					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGGGAAATCTGCAATATTT	0.358													22	71					0	0	0	0	T	89930999	C	T	89930999	2	4	222	1	0	0	0	0	0	0	0	1	6771	903	32	2		2	GPR98	5	89930999	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	10075879	89930999	90984261	313	39951											
GPR98	84059	broad.mit.edu	37	chr5	89954097	89954097	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagcttgtataccagaggTaagtagtgagcttggagaat	13	10	14	4	0	0	3	0	1	0	2	0	5	0	4	1	3	3	5	1	3	5	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:89954097T>A	ENST00000405460.2	+	21	4848		c.e21+2			NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATACCAGAGGTAAGTAGTGAG	0.373													18	40					0	0	0	0	A	89954097	T	A	89954097	5	1	222	1	0	0	0	0	0	0	1	0	6771	1652	57	5	4836	5	GPR98	5	89954097	Splice_Site	SNP	T	TCGA-CR-7402-01A-11D-2012-08	23098	89954097	90961163	314	39952											
MCTP1	79772	broad.mit.edu	37	chr5	94353071	94353071	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgctcttatgctcttacCtcctcgatctcgagcagcta	7	15	6	13	2	3	0	0	0	3	0	6	2	4	0	2	0	5	4	2	0	4	5	rs111625916		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:94353071C>A	ENST00000515393.1	-	2	837	c.838_splice	c.e2+1	p.G280_splice	MCTP1_ENST00000429576.2_Splice_Site_p.G59_splice|MCTP1_ENST00000505208.1_Splice_Site_p.G59_splice|MCTP1_ENST00000312216.8_Splice_Site_p.G59_splice	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	280	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.G280R(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ATGCTCTTACCTCCTCGATCT	0.403													28	71					1.13719e-10	2.17739e-10	1	0	A	94353071	C	A	94353071	5	1	222	1	0	0	0	0	0	0	1	0	9469	695	24	4	2249	4	MCTP1	5	94353071	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4398974	94353071	86562189	315	39953											
ELL2	22936	broad.mit.edu	37	chr5	95234300	95234300	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagttagaatttacaatcTgaggaggatgtgagatgggc	12	11	15	3	0	1	3	0	2	1	2	1	7	1	6	0	4	1	1	0	4	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:95234300T>A	ENST00000237853.4	-	8	1518	c.1169A>T	c.(1168-1170)cAg>cTg	p.Q390L	ELL2_ENST00000431061.2_Splice_Site	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	390					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		ATTTACAATCTGAGGAGGATG	0.537													38	79					0	0	0	0	A	95234300	T	A	95234300	3	1	222	1	0	0	0	0	1	0	0	0	5101	1580	55	5	773	5	ELL2	5	95234300	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	881229	95234300	85680960	316	39954											
FAM174A	345757	broad.mit.edu	37	chr5	99871504	99871504	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcagcaaccctgtggccggGcttgagacggacgatcacgg	8	5	16	12	4	1	1	1	1	0	1	1	4	1	2	2	5	2	3	2	5	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:99871504G>T	ENST00000312637.4	+	1	496	c.270G>T	c.(268-270)ggG>ggT	p.G90G		NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	90						integral to membrane				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTGTGGCCGGGCTTGAGACGG	0.726													7	13					8.12818e-05	0.000132507	1	0	T	99871504	G	T	99871504	2	4	222	1	0	0	0	0	0	0	0	1	5536	1190	42	4		4	FAM174A	5	99871504	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4637204	99871504	81043756	317	39955											
SLCO4C1	353189	broad.mit.edu	37	chr5	101606491	101606491	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgtacaactggtgctattCcttgttgttacacaagtgtc	9	15	9	8	0	0	0	0	0	0	0	2	1	1	0	1	1	4	4	1	1	5	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:101606491C>T	ENST00000310954.6	-	3	925	c.639G>A	c.(637-639)agG>agA	p.R213R		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	213					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGGTGCTATTCCTTGTTGTTA	0.333													9	35					0	0	0	0	T	101606491	C	T	101606491	2	4	222	1	0	0	0	0	0	0	0	1	14818	854	30	2		2	SLCO4C1	5	101606491	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1734987	101606491	79308769	318	39956											
SLCO4C1	353189	broad.mit.edu	37	chr5	101627047	101627047	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacacaatagaaacttacCttcaaaaagagaccccaatt	20	8	3	10	0	1	2	1	0	0	2	1	3	1	2	3	0	3	0	3	0	9	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:101627047C>T	ENST00000310954.6	-	2	905	c.619_splice	c.e2+1	p.D207_splice		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	207					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGAAACTTACCTTCAAAAAGA	0.348													17	45					0	0	0	0	T	101627047	C	T	101627047	5	4	222	1	0	0	0	0	0	0	1	0	14818	695	24	4	1603	4	SLCO4C1	5	101627047	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	20556	101627047	79288213	319	39957											
PGGT1B	5229	broad.mit.edu	37	chr5	114573587	114573587	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaagggctctcaagccCgctaagcaagcttctttatt	10	11	9	11	1	2	1	1	1	2	0	3	1	2	1	1	1	4	5	1	1	5	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:114573587C>G	ENST00000419445.1	-	4	467	c.447G>C	c.(445-447)gcG>gcC	p.A149A	PGGT1B_ENST00000379615.3_Silent_p.A149A	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	149					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	CTCTCAAGCCCGCTAAGCAAG	0.388													26	75					0	0	0	0	G	114573587	C	G	114573587	2	3	222	1	0	0	0	0	0	0	0	1	11861	639	23	3		3	PGGT1B	5	114573587	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	12946540	114573587	66341673	320	39958											
FTMT	94033	broad.mit.edu	37	chr5	121187730	121187730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctgcgcccggtgcgctgCtgcttcgcgctcccgctgcg	0	10	13	18	7	1	0	0	0	1	0	4	0	2	0	2	1	5	5	2	1	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:121187730C>T	ENST00000321339.1	+	1	81	c.72C>T	c.(70-72)tgC>tgT	p.C24C		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	24					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CGGTGCGCTGCTGCTTCGCGC	0.731													4	34					0	0	0	0	T	121187730	C	T	121187730	2	4	222	1	0	0	0	0	0	0	0	1	6133	805	28	4		4	FTMT	5	121187730	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	6614143	121187730	59727530	321	39959											
ZNF608	57507	broad.mit.edu	37	chr5	123983092	123983092	+	Frame_Shift_Del	DEL	G	G	-																															ggatcatagctgtggtaataGggagaatgggactctttcag																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:123983092delG	ENST00000306315.5	-	4	3420	c.2985delC	c.(2983-2985)ccfs	p.P995fs	ZNF608_ENST00000504926.1_Frame_Shift_Del_p.P568fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	995	Ser-rich.					intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGTGGTAATAGGGAGAATGGG	0.463													43	107	---	---	---	---					-	123983092	G	-	123983092	7	5	222	1	0	1	0	1	0	0	0	0	18129	987	35	0	1577	0	ZNF608	5	123983092	Frame_Shift_Del	DEL	G	TCGA-CR-7402-01A-11D-2012-08	2795362	123983092	56932168	322	39960											
FBN2	2201	broad.mit.edu	37	chr5	127671152	127671152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctttctatacctgcaCacgatctcccatctggcatc	7	15	4	15	1	3	0	0	0	3	0	6	1	4	0	3	1	2	2	3	1	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:127671152C>T	ENST00000508053.1	-	35	4816	c.3842G>A	c.(3841-3843)tGt>tAt	p.C1281Y	FBN2_ENST00000507835.1_Missense_Mutation_p.C131Y|FBN2_ENST00000262464.4_Missense_Mutation_p.C1281Y|FBN2_ENST00000508989.1_Missense_Mutation_p.C1248Y			P35556	FBN2_HUMAN	fibrillin 2	1281	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TATACCTGCACACGATCTCCC	0.433													26	98					0	0	0	0	T	127671152	C	T	127671152	3	4	222	1	0	0	0	0	1	0	0	0	5748	478	17	4	5044	4	FBN2	5	127671152	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3688060	127671152	53244108	323	39961											
RAD50	10111	broad.mit.edu	37	chr5	131953939	131953939	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattgttatgaggacaacAgaacttgtgaacaaggatct	15	11	10	5	0	1	4	0	3	1	1	1	6	1	6	0	2	3	1	0	2	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:131953939A>T	ENST00000378823.3	+	21	3743	c.2925A>T	c.(2923-2925)acA>acT	p.T975T	RAD50_ENST00000265335.6_Silent_p.T1114T	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1114					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGGACAACAGAACTTGTGA	0.318								Homologous recombination					26	57					0	0	0	0	T	131953939	A	T	131953939	2	4	222	1	0	0	0	0	0	0	0	1	13066	175	7	5		5	RAD50	5	131953939	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	4282787	131953939	48961321	324	39962											
IL13	3596	broad.mit.edu	37	chr5	131993925	131993925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcactgggcctcatggCgcttttgttgaccacggtca	5	12	13	11	2	2	1	2	1	0	0	2	1	2	1	2	4	0	4	2	4	0	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:131993925C>A	ENST00000304506.3	+	1	61	c.47C>A	c.(46-48)gCg>gAg	p.A16E	IL13_ENST00000468334.1_Intron|AC004041.2_ENST00000435042.1_RNA	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	16					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCCTCATGGCGCTTTTGTTG	0.592											OREG0003464	type=REGULATORY REGION|Gene=IL13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	51					5.03518e-11	9.71711e-11	1	0	A	131993925	C	A	131993925	3	1	222	1	0	0	0	0	1	0	0	0	7681	768	27	3	49	3	IL13	5	131993925	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	39986	131993925	48921335	325	39963											
TGFBI	7045	broad.mit.edu	37	chr5	135394834	135394834	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacattggtgatgaaatcctGgttagcggaggcatcggggc	9	9	15	8	2	0	2	0	2	0	0	2	3	1	3	1	6	1	2	1	6	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:135394834G>T	ENST00000442011.2	+	13	1895	c.1734G>T	c.(1732-1734)ctG>ctT	p.L578L	TGFBI_ENST00000305126.8_Silent_p.L578L|TGFBI_ENST00000508076.1_5'UTR	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	578	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGAAATCCTGGTTAGCGGAG	0.502													10	18					5.16669e-11	9.96104e-11	1	0	T	135394834	G	T	135394834	2	4	222	1	0	0	0	0	0	0	0	1	15914	1335	47	4		4	TGFBI	5	135394834	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3400909	135394834	45520426	326	39964											
WNT8A	7478	broad.mit.edu	37	chr5	137419813	137419813	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatgctctgggcagctctggGcatatgctgtgctgcattca	6	13	12	10	0	3	0	1	0	2	0	3	0	3	0	0	2	5	7	0	2	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:137419813G>C	ENST00000398754.1	+	1	40	c.35G>C	c.(34-36)gGc>gCc	p.G12A	WNT8A_ENST00000506684.1_5'UTR	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	12					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCAGCTCTGGGCATATGCTGT	0.587													13	38					0	0	0	0	C	137419813	G	C	137419813	3	2	222	1	0	0	0	0	1	0	0	0	17492	1203	42	4	37	4	WNT8A	5	137419813	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2024979	137419813	43495447	327	39965											
PCDHA1	56147	broad.mit.edu	37	chr5	140167848	140167848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggatcacggtgagccggCgctgacagccacggccactg	9	4	15	13	4	1	2	1	2	0	0	1	4	1	3	3	4	2	1	3	4	1	0	rs149133665		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140167848C>G	ENST00000504120.2	+	1	1973	c.1973C>G	c.(1972-1974)gCg>gGg	p.A658G	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A658G|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCCGGCGCTGACAGCC	0.667													19	81					0	0	0	0	G	140167848	C	G	140167848	3	3	222	1	0	0	0	0	1	0	0	0	11590	768	27	3	1975	3	PCDHA1	5	140167848	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2748035	140167848	40747412	328	39966											
PCDHA1	56147	broad.mit.edu	37	chr5	140167951	140167951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcgggcccagaggcggcGctggtggatgtcaacgtgta	6	7	18	10	5	1	1	1	0	0	1	2	2	1	2	1	5	1	2	1	5	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140167951G>A	ENST00000504120.2	+	1	2076	c.2076G>A	c.(2074-2076)gcG>gcA	p.A692A	PCDHA1_ENST00000378133.3_Silent_p.A692A|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGGCGGCGCTGGTGGATG	0.662													24	67					0	0	0	0	A	140167951	G	A	140167951	2	1	222	1	0	0	0	0	0	0	0	1	11590	1074	38	1		1	PCDHA1	5	140167951	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	103	140167951	40747309	329	39967											
PCDHA3	56145	broad.mit.edu	37	chr5	140182402	140182402	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgagtgcgcgcgatgcGggcgtgccgcctctgggcag	4	6	19	12	6	1	1	0	1	1	0	1	2	1	1	2	3	3	1	2	3	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140182402G>T	ENST00000522353.2	+	1	1620	c.1620G>T	c.(1618-1620)gcG>gcT	p.A540A	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.A540A|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGATGCGGGCGTGCCGC	0.672													50	131					4.44712e-29	1.0843e-28	1	0	T	140182402	G	T	140182402	2	4	222	1	0	0	0	0	0	0	0	1	11596	1103	39	3		3	PCDHA3	5	140182402	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	14451	140182402	40732858	330	39968											
PCDHA3	56145	broad.mit.edu	37	chr5	140182502	140182502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcgggtgggtggcatcGgtggcgcagtgagcgagctg	4	8	20	9	4	0	1	0	1	0	0	2	2	0	1	1	5	3	3	1	5	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140182502G>A	ENST00000522353.2	+	1	1720	c.1720G>A	c.(1720-1722)Ggt>Agt	p.G574S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G574S|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGCATCGGTGGCGCAGT	0.682													44	86					0	0	0	0	A	140182502	G	A	140182502	3	1	222	1	0	0	0	0	1	0	0	0	11596	1116	39	1	1722	1	PCDHA3	5	140182502	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	100	140182502	40732758	331	39969											
PCDHA5	56143	broad.mit.edu	37	chr5	140203532	140203532	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgcgctgcggtgctcggcGcagcccaccgaggccgtgtg	4	5	16	16	7	0	0	0	0	0	0	1	1	0	0	4	3	3	3	4	3	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140203532G>T	ENST00000529859.1	+	1	2172	c.2172G>T	c.(2170-2172)gcG>gcT	p.A724A	PCDHA5_ENST00000378126.3_Silent_p.A724A|PCDHA5_ENST00000529619.1_Silent_p.A724A|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCTCGGCGCAGCCCACCG	0.657													20	63					2.39187e-15	5.06335e-15	1	0	T	140203532	G	T	140203532	2	4	222	1	0	0	0	0	0	0	0	1	11598	1074	38	3		3	PCDHA5	5	140203532	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	21030	140203532	40711728	332	39970											
PCDHA10	56139	broad.mit.edu	37	chr5	140237321	140237321	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaacgacaacgctcccgCgctgctggcgtctcccgctg	6	6	12	17	7	1	1	0	0	1	1	3	3	2	1	2	1	3	4	2	1	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140237321C>G	ENST00000307360.5	+	1	1688	c.1688C>G	c.(1687-1689)gCg>gGg	p.A563G	PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGCTCCCGCGCTGCTGGCG	0.687													25	20					0	0	0	0	G	140237321	C	G	140237321	3	3	222	1	0	0	0	0	1	0	0	0	11591	768	27	3	1690	3	PCDHA10	5	140237321	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	33789	140237321	40677939	333	39971											
PCDHA12	56137	broad.mit.edu	37	chr5	140255363	140255363	+	Nonsense_Mutation	SNP	C	C	A																															tgcgggcggagcgcggagtgCagtatccacctggaggtgat																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140255363C>A	ENST00000398631.2	+	1	306	c.306C>A	c.(304-306)tgC>tgA	p.C102*	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGAGTGCAGTATCCACC	0.552													73	186					3.58576e-35	8.89834e-35	1	0	A	140255363	C	A	140255363	4	1	222	1	0	0	0	0	0	1	0	0	11593	718	25	4	308	4	PCDHA12	5	140255363	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	18042	140255363	40659897	334	39972	299	2									
PCDHA12	56137	broad.mit.edu	37	chr5	140255364	140255364	+	Missense_Mutation	SNP	A	A	G																															gcgggcggagcgcggagtgcAgtatccacctggaggtgatc																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140255364A>G	ENST00000398631.2	+	1	307	c.307A>G	c.(307-309)Agt>Ggt	p.S103G	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGTGCAGTATCCACCT	0.557													74	186					0	0	0	0	G	140255364	A	G	140255364	3	3	222	1	0	0	0	0	1	0	0	0	11593	188	7	5	309	5	PCDHA12	5	140255364	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1	140255364	40659896	335	39973	299	2									
PCDHAC2	56134	broad.mit.edu	37	chr5	140346602	140346602	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcatcaaccatctgggtgCgcccagtccgcgctacctgg	6	7	12	16	4	2	0	1	0	1	0	3	0	3	0	4	2	3	2	4	2	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140346602C>A	ENST00000289269.5	+	1	783	c.251C>A	c.(250-252)gCg>gAg	p.A84E	PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		84	Cadherin 1.				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)			CATCTGGGTGCGCCCAGTCCG	0.697													11	28					4.3838e-07	7.67165e-07	1	0	A	140346602	C	A	140346602	3	1	222	1	0	0	0	0	1	0	0	0	11604	768	27	3	253	3	PCDHAC2	5	140346602	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	91238	140346602	40568658	336	39974											
PCDHB1	29930	broad.mit.edu	37	chr5	140433332	140433332	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatatgaaatgtgttcAgccactggcactggtaatag	11	12	10	8	0	1	1	1	1	0	0	2	1	2	1	2	2	1	3	2	2	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140433332A>T	ENST00000306549.3	+	1	2354	c.2277A>T	c.(2275-2277)tcA>tcT	p.S759S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		759					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATGTGTTCAGCCACTGGCA	0.443													6	92					0	0	0	0	T	140433332	A	T	140433332	2	4	222	1	0	0	0	0	0	0	0	1	11605	175	7	5		5	PCDHB1	5	140433332	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	86730	140433332	40481928	337	39975											
PCDHB2	56133	broad.mit.edu	37	chr5	140474516	140474516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggagagtggctcctttgtgGccaatttgttaaaagacctg	9	12	12	8	1	0	2	0	0	0	2	1	3	1	2	3	3	0	2	3	3	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140474516G>T	ENST00000194155.4	+	1	290	c.142G>T	c.(142-144)Gcc>Tcc	p.A48S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		48	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTTTGTGGCCAATTTGTT	0.498													13	49					1.05317e-09	1.97964e-09	1	0	T	140474516	G	T	140474516	3	4	222	1	0	0	0	0	1	0	0	0	11613	1203	42	4	144	4	PCDHB2	5	140474516	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	41184	140474516	40440744	338	39976											
PCDHB3	56132	broad.mit.edu	37	chr5	140481907	140481907	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgccaacgacaactcGcccttcgtgctgtacccgct	7	8	9	17	5	0	0	0	0	0	0	2	2	0	1	3	1	4	3	3	1	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140481907G>C	ENST00000231130.2	+	1	1674	c.1674G>C	c.(1672-1674)tcG>tcC	p.S558S		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		558	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGACAACTCGCCCTTCGTGC	0.711													30	76					0	0	0	0	C	140481907	G	C	140481907	2	2	222	1	0	0	0	0	0	0	0	1	11614	1074	38	3		3	PCDHB3	5	140481907	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	7391	140481907	40433353	339	39977											
PCDHB16	57717	broad.mit.edu	37	chr5	140562178	140562178	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggagacaaaggcaagtccTtgttttctttgttttgctga	8	16	10	7	1	1	2	0	1	1	1	3	3	2	2	1	2	1	4	1	2	2	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140562178T>C	ENST00000361016.2	+	1	1199	c.44T>C	c.(43-45)cTt>cCt	p.L15P		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		15					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCAAGTCCTTGTTTTCTTT	0.473													39	101					0	0	0	0	C	140562178	T	C	140562178	3	2	222	1	0	0	0	0	1	0	0	0	11612	1609	56	5	46	5	PCDHB16	5	140562178	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	80271	140562178	40353082	340	39978											
PCDHB14	56122	broad.mit.edu	37	chr5	140604444	140604444	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccttcacccaaacctcctAcaccctgttcgtccgcgaga	9	8	5	19	3	1	1	1	0	0	1	4	2	3	1	6	0	2	1	6	0	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140604444A>G	ENST00000239449.4	+	1	1367	c.1367A>G	c.(1366-1368)tAc>tGc	p.Y456C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.Y303C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		456	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAACCTCCTACACCCTGTTC	0.592													58	184					0	0	0	0	G	140604444	A	G	140604444	3	3	222	1	0	0	0	0	1	0	0	0	11610	391	14	5	1369	5	PCDHB14	5	140604444	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	42266	140604444	40310816	341	39979											
PCDHB15	56121	broad.mit.edu	37	chr5	140625859	140625859	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcttggacgccaatgacaAtgccccggagtttgtgcagg	8	9	14	10	2	1	1	0	1	1	0	1	3	1	3	3	4	2	2	3	4	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140625859A>T	ENST00000231173.3	+	1	713	c.713A>T	c.(712-714)aAt>aTt	p.N238I		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		238	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCAATGACAATGCCCCGGAG	0.577													8	23					0	0	0	0	T	140625859	A	T	140625859	3	4	222	1	0	0	0	0	1	0	0	0	11611	101	4	5	715	5	PCDHB15	5	140625859	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	21415	140625859	40289401	342	39980											
ARAP3	64411	broad.mit.edu	37	chr5	141059771	141059771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggtcctgggcttcggcaCgggcttagggggctgggctt	3	9	18	11	3	0	0	0	0	0	0	2	0	1	0	1	7	0	5	1	7	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:141059771C>A	ENST00000239440.4	-	2	348	c.283G>T	c.(283-285)Gtg>Ttg	p.V95L	ARAP3_ENST00000508305.1_Missense_Mutation_p.V17L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	95	Pro-rich.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGCTTCGGCACGGGCTTAGGG	0.657													22	73					7.41877e-09	1.35664e-08	1	0	A	141059771	C	A	141059771	3	1	222	1	0	0	0	0	1	0	0	0	842	536	19	3	4479	3	ARAP3	5	141059771	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	433912	141059771	39855489	343	39981											
SPRY4	81848	broad.mit.edu	37	chr5	141693814	141693814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtcttggcatccccgCtggctgctttgcagatgacg	4	12	13	12	2	1	2	0	1	1	1	2	2	2	2	2	3	3	6	2	3	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:141693814C>A	ENST00000344120.4	-	3	1115	c.929G>T	c.(928-930)aGc>aTc	p.S310I	SPRY4_ENST00000434127.2_Missense_Mutation_p.S287I	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	287					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATCCCCGCTGGCTGCTTT	0.617									Testicular Cancer, Familial Clustering of				12	33					0.00136819	0.00218129	1	0	A	141693814	C	A	141693814	3	1	222	1	0	0	0	0	1	0	0	0	15198	797	28	4	43	4	SPRY4	5	141693814	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	634043	141693814	39221446	344	39982											
POU4F3	5459	broad.mit.edu	37	chr5	145719828	145719828	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacggaagcgcaaacgcacgTccatcgcggcgccggagaag	12	2	14	13	8	0	1	0	0	0	1	2	3	1	2	2	3	3	2	2	3	4	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:145719828T>A	ENST00000230732.4	+	2	927	c.838T>A	c.(838-840)Tcc>Acc	p.S280T	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	280					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAACGCACGTCCATCGCGGC	0.612													21	45					0	0	0	0	A	145719828	T	A	145719828	3	1	222	1	0	0	0	0	1	0	0	0	12351	1667	58	5	844	5	POU4F3	5	145719828	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	4026014	145719828	35195432	345	39983											
PPP2R2B	5521	broad.mit.edu	37	chr5	145969694	145969694	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttgaggatagcccggggcTtgctgttttccctcgaagcc	5	12	13	11	2	0	1	0	1	0	0	2	3	1	2	3	3	3	4	3	3	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:145969694T>A	ENST00000394413.3	-	9	1718	c.1148A>T	c.(1147-1149)aAg>aTg	p.K383M	PPP2R2B_ENST00000394410.2_Missense_Mutation_p.K372M|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.K389M|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.K383M|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.K441M|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.K372M|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.K449M|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.K386M|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.K383M|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.K383M			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	383					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCGGGGCTTGCTGTTTTC	0.507													38	82					0	0	0	0	A	145969694	T	A	145969694	3	1	222	1	0	0	0	0	1	0	0	0	12461	1609	56	5	187	5	PPP2R2B	5	145969694	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	249866	145969694	34945566	346	39984											
SH3TC2	79628	broad.mit.edu	37	chr5	148407063	148407063	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagttcctcacaggcagcCagggcctgtctgagcattgg	7	9	13	12	0	2	1	1	1	1	0	3	1	3	1	3	3	2	4	3	3	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:148407063C>A	ENST00000538184.1	-	7	1761	c.873G>T	c.(871-873)ctG>ctT	p.L291L	SH3TC2_ENST00000512049.1_Silent_p.L737L|SH3TC2_ENST00000515425.1_Silent_p.L744L|SH3TC2_ENST00000394358.2_Silent_p.L629L			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	744	SH3.						binding			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)			CACAGGCAGCCAGGGCCTGTC	0.592													21	40					3.51602e-12	6.89436e-12	1	0	A	148407063	C	A	148407063	2	1	222	1	0	0	0	0	0	0	0	1	14350	581	21	4		4	SH3TC2	5	148407063	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2437369	148407063	32508197	347	39985											
CAMK2A	815	broad.mit.edu	37	chr5	149636159	149636159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtcccggtgcaccacccCcatctggtggcagtgcagca	7	6	12	16	1	1	0	0	0	1	0	2	0	2	0	4	4	3	4	4	4	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:149636159C>A	ENST00000348628.6	-	6	1053	c.388G>T	c.(388-390)Ggg>Tgg	p.G130W	CAMK2A_ENST00000398376.3_Missense_Mutation_p.G130W	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	130	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCACCACCCCCATCTGGTGG	0.637													6	30					3.59834e-05	5.93543e-05	1	0	A	149636159	C	A	149636159	3	1	222	1	0	0	0	0	1	0	0	0	2624	623	22	4	1137	4	CAMK2A	5	149636159	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1229096	149636159	31279101	348	39986											
ARSI	340075	broad.mit.edu	37	chr5	149678016	149678016	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccccgacgggtgggcagAcactccttccggtagaagcc	9	5	13	14	3	0	2	0	0	0	2	2	3	2	2	5	3	2	2	5	3	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:149678016A>G	ENST00000328668.7	-	2	1050	c.471T>C	c.(469-471)tgT>tgC	p.C157C		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	157						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTGGGCAGACACTCCTTCC	0.607													19	38					0	0	0	0	G	149678016	A	G	149678016	2	3	222	1	0	0	0	0	0	0	0	1	998	273	10	5		5	ARSI	5	149678016	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	41857	149678016	31237244	349	39987											
KIF4B	285643	broad.mit.edu	37	chr5	154394597	154394597	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctgatggagaagaatcAgtccctggtagaggagaatg	13	8	13	7	0	1	5	1	1	0	4	3	7	3	5	2	3	0	1	2	3	4	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:154394597A>T	ENST00000435029.4	+	1	1338	c.1178A>T	c.(1177-1179)cAg>cTg	p.Q393L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	393					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGAAGAATCAGTCCCTGGTA	0.468													33	100					0	0	0	0	T	154394597	A	T	154394597	3	4	222	1	0	0	0	0	1	0	0	0	8355	188	7	5	1180	5	KIF4B	5	154394597	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	4716581	154394597	26520663	350	39988											
HAVCR1	26762	broad.mit.edu	37	chr5	156479381	156479381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgttttacctggttcatGgttctgcctgggcaaaggca	7	14	11	9	0	3	0	1	0	2	0	3	0	3	0	2	4	2	5	2	4	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:156479381G>T	ENST00000339252.3	-	3	1196	c.664C>A	c.(664-666)Cat>Aat	p.H222N	HAVCR1_ENST00000544197.1_Missense_Mutation_p.H222N|HAVCR1_ENST00000523175.1_Missense_Mutation_p.H222N|HAVCR1_ENST00000522693.1_Missense_Mutation_p.H222N|HAVCR1_ENST00000425854.1_Missense_Mutation_p.H222N	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	217					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGGTTCATGGTTCTGCCTG	0.488													50	138					4.18559e-23	9.96884e-23	1	0	T	156479381	G	T	156479381	3	4	222	1	0	0	0	0	1	0	0	0	7023	1348	47	4	454	4	HAVCR1	5	156479381	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2084784	156479381	24435879	351	39989											
NIPAL4	348938	broad.mit.edu	37	chr5	156899365	156899365	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgtgtttgctgtgcttctGctggtgtcatgcctcatcct	3	17	10	11	1	3	0	2	0	1	0	5	0	4	0	2	1	4	4	2	1	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:156899365G>A	ENST00000311946.7	+	6	914	c.798G>A	c.(796-798)ctG>ctA	p.L266L	NIPAL4_ENST00000435489.2_Silent_p.L247L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	266						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CTGTGCTTCTGCTGGTGTCAT	0.527											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	150					0	0	0	0	A	156899365	G	A	156899365	2	1	222	1	0	0	0	0	0	0	0	1	10497	1306	46	4		4	NIPAL4	5	156899365	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	419984	156899365	24015895	352	39990											
ADAM19	8728	broad.mit.edu	37	chr5	156929850	156929850	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcttccccatcttccagAtacccgttcccacacctccg	7	10	3	21	2	2	1	0	0	2	1	6	1	6	1	7	0	1	1	7	0	1	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:156929850A>T	ENST00000257527.4	-	12	1347	c.1269T>A	c.(1267-1269)taT>taA	p.Y423*	ADAM19_ENST00000517905.1_Nonsense_Mutation_p.Y423*|ADAM19_ENST00000430702.2_Nonsense_Mutation_p.Y156*|ADAM19_ENST00000394020.1_Nonsense_Mutation_p.Y425*	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	423	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCTTCCAGATACCCGTTCC	0.527													44	107					0	0	0	0	T	156929850	A	T	156929850	4	4	222	1	0	0	0	0	0	1	0	0	240	340	12	5	1535	5	ADAM19	5	156929850	Nonsense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	30485	156929850	23985410	353	39991											
LSM11	134353	broad.mit.edu	37	chr5	157181901	157181901	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcaagattcctccaagaagGaagcagattctaagtctgca	14	10	8	9	0	3	3	1	0	2	3	5	4	5	4	2	1	2	2	2	1	5	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:157181901G>T	ENST00000286307.5	+	4	768	c.712G>T	c.(712-714)Gaa>Taa	p.E238*		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	238					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCCAAGAAGGAAGCAGATTC	0.423													22	39					3.10358e-05	5.13669e-05	1	0	T	157181901	G	T	157181901	4	4	222	1	0	0	0	0	0	1	0	0	9116	1175	41	2	726	2	LSM11	5	157181901	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	252051	157181901	23733359	354	39992											
IL12B	3593	broad.mit.edu	37	chr5	158753716	158753716	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggttaccatctttcttcagTtcccatatggccacgagggg	7	13	10	11	1	3	0	1	0	2	0	4	1	4	0	3	4	1	2	3	4	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:158753716T>G	ENST00000231228.2	-	2	530	c.75A>C	c.(73-75)gaA>gaC	p.E25D		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	25	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTCTTCAGTTCCCATATGG	0.502													33	77					0	0	0	0	G	158753716	T	G	158753716	3	3	222	1	0	0	0	0	1	0	0	0	7678	1722	60	5	935	5	IL12B	5	158753716	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1571815	158753716	22161544	355	39993											
ATP10B	23120	broad.mit.edu	37	chr5	160071164	160071164	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatagatgacaatgccAacagccatctcggtgtttct	10	11	8	12	1	2	2	0	1	2	1	3	2	2	2	3	1	4	2	3	1	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:160071164A>G	ENST00000327245.5	-	9	1695	c.849T>C	c.(847-849)gtT>gtC	p.V283V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	283					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGACAATGCCAACAGCCATCT	0.493													15	63					0	0	0	0	G	160071164	A	G	160071164	2	3	222	1	0	0	0	0	0	0	0	1	1121	117	5	5		5	ATP10B	5	160071164	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1317448	160071164	20844096	356	39994											
DOCK2	1794	broad.mit.edu	37	chr5	169188524	169188524	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttttcctgccctcagcCaactcctgtatgagttctac	7	15	5	14	0	2	1	1	1	1	0	4	1	4	1	4	0	4	2	4	0	4	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:169188524C>A	ENST00000256935.8	+	25	2529	c.2447_splice	c.e25-1	p.Q817_splice	DOCK2_ENST00000520908.1_Splice_Site_p.Q309_splice|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	817					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCCCTCAGCCAACTCCTGTA	0.483													38	117					5.59293e-11	1.07616e-10	1	0	A	169188524	C	A	169188524	5	1	222	1	0	0	0	0	0	0	1	0	4723	608	21	4	2547	4	DOCK2	5	169188524	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	9117360	169188524	11726736	357	39995											
DOCK2	1794	broad.mit.edu	37	chr5	169454881	169454881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcagtttgaaaacgaaatCatcctgaagctggaccacga	14	9	8	10	2	2	2	2	2	0	0	3	5	3	3	2	1	2	2	2	1	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:169454881C>T	ENST00000256935.8	+	34	3476	c.3396C>T	c.(3394-3396)atC>atT	p.I1132I	DOCK2_ENST00000520908.1_Silent_p.I624I|DOCK2_ENST00000540750.1_Silent_p.I193I|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1132	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAACGAAATCATCCTGAAGC	0.448													26	63					0	0	0	0	T	169454881	C	T	169454881	2	4	222	1	0	0	0	0	0	0	0	1	4723	816	29	2		2	DOCK2	5	169454881	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	266357	169454881	11460379	358	39996											
KCNIP1	30820	broad.mit.edu	37	chr5	170147332	170147332	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccttcccacaggagtgccCcagtggtgtggtcaacgaag	8	7	12	14	1	1	0	1	0	0	0	2	2	2	1	5	3	2	0	5	3	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:170147332C>A	ENST00000328939.4	+	3	731	c.194C>A	c.(193-195)cCc>cAc	p.P65H	KCNIP1_ENST00000411494.1_Missense_Mutation_p.P76H|KCNIP1_ENST00000520740.1_Missense_Mutation_p.P37H|KCNIP1_ENST00000377360.4_Missense_Mutation_p.P74H|KCNIP1_ENST00000434108.1_Missense_Mutation_p.P65H|KCNIP1_ENST00000390656.4_Missense_Mutation_p.P65H	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	76	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGAGTGCCCCAGTGGTGTG	0.547													9	30					2.17888e-05	3.61849e-05	1	0	A	170147332	C	A	170147332	3	1	222	1	0	0	0	0	1	0	0	0	8092	623	22	4	333	4	KCNIP1	5	170147332	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	692451	170147332	10767928	359	39997											
STK10	6793	broad.mit.edu	37	chr5	171523476	171523476	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccccctcatcccggccgTcttcgatctcttccatcacc	4	12	4	21	3	4	0	2	0	2	0	9	1	7	0	6	1	0	0	6	1	0	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:171523476T>A	ENST00000176763.5	-	8	1302	c.959A>T	c.(958-960)gAc>gTc	p.D320V		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	320							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATCCCGGCCGTCTTCGATCTC	0.642													32	81					0	0	0	0	A	171523476	T	A	171523476	3	1	222	1	0	0	0	0	1	0	0	0	15376	1667	58	5	1995	5	STK10	5	171523476	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1376144	171523476	9391784	360	39998											
EIF4E1B	253314	broad.mit.edu	37	chr5	176072481	176072481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatcgctgtgtggacgaGggaggcggaaaaccaggcgg	11	4	18	8	4	0	1	0	0	0	1	1	5	0	4	1	6	1	1	1	6	3	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:176072481G>A	ENST00000318682.6	+	8	1162	c.578G>A	c.(577-579)aGg>aAg	p.R193K	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.R193K|EIF4E1B_ENST00000512734.1_3'UTR	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	193					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGTGGACGAGGGAGGCGGAA	0.622													13	29					0	0	0	0	A	176072481	G	A	176072481	3	1	222	1	0	0	0	0	1	0	0	0	5067	1000	35	4	600	4	EIF4E1B	5	176072481	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4549005	176072481	4842779	361	39999											
NSD1	64324	broad.mit.edu	37	chr5	176637567	176637567	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaagagtgcagagcctggaAccgagacgtctcaggttaat	12	8	12	9	2	1	3	1	0	1	3	2	5	1	4	2	2	3	2	2	2	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:176637567A>T	ENST00000439151.2	+	5	2212	c.2167A>T	c.(2167-2169)Acc>Tcc	p.T723S	NSD1_ENST00000354179.4_Missense_Mutation_p.T454S|NSD1_ENST00000361032.4_Missense_Mutation_p.T620S|NSD1_ENST00000347982.4_Missense_Mutation_p.T454S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	723					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAGCCTGGAACCGAGACGTC	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			26	58					0	0	0	0	T	176637567	A	T	176637567	3	4	222	1	0	0	0	0	1	0	0	0	10740	43	2	5	2181	5	NSD1	5	176637567	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	565086	176637567	4277693	362	40000											
NSD1	64324	broad.mit.edu	37	chr5	176675254	176675254	+	Frame_Shift_Del	DEL	G	G	-																															aaggtgtagaacacgatcccGggatgcctgcctctaaaaaa																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:176675254delG	ENST00000439151.2	+	11	4615	c.4570delG	c.(4570-4572)ggfs	p.G1524fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.G1255fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.G1421fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.G1255fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1524					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACACGATCCCGGGATGCCTGC	0.493			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			10	21	---	---	---	---					-	176675254	G	-	176675254	7	5	222	1	0	1	0	1	0	0	0	0	10740	1116	39	0	4608	0	NSD1	5	176675254	Frame_Shift_Del	DEL	G	TCGA-CR-7402-01A-11D-2012-08	37687	176675254	4240006	363	40001											
NSD1	64324	broad.mit.edu	37	chr5	176709538	176709538	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctcgaattcgctatgctCaagaacatgatatcactaat	14	11	7	9	2	2	2	2	1	0	1	4	4	2	2	0	0	3	3	0	0	6	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:176709538C>T	ENST00000439151.2	+	19	6010	c.5965C>T	c.(5965-5967)Caa>Taa	p.Q1989*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q1720*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q1720*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q1886*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1989	SET.			RYAQEH -> KHAHEN (in Ref. 3; AAK92049).	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCGCTATGCTCAAGAACATGA	0.368			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			24	95					0	0	0	0	T	176709538	C	T	176709538	4	4	222	1	0	0	0	0	0	1	0	0	10740	827	29	2	6035	2	NSD1	5	176709538	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	34284	176709538	4205722	364	40002											
ZNF354C	30832	broad.mit.edu	37	chr5	178503532	178503532	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccagagggccttgtaccgGgaggtgatgctggagaacta	9	7	16	9	1	0	3	0	1	0	2	0	5	0	4	3	4	3	2	3	4	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:178503532G>T	ENST00000315475.6	+	3	420	c.114G>T	c.(112-114)cgG>cgT	p.R38R		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CCTTGTACCGGGAGGTGATGC	0.527													24	82					6.36457e-07	1.10982e-06	1	0	T	178503532	G	T	178503532	2	4	222	1	0	0	0	0	0	0	0	1	17961	1219	43	4		4	ZNF354C	5	178503532	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1793994	178503532	2411728	365	40003											
BTNL8	79908	broad.mit.edu	37	chr5	180374703	180374703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatcagagatgctcccacatCcagctgcttctcttcttcta	8	13	6	14	0	4	1	1	0	3	1	7	3	6	1	2	0	3	3	2	0	1	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:180374703C>T	ENST00000231229.4	+	4	1099	c.865C>T	c.(865-867)Cca>Tca	p.P289S	BTNL8_ENST00000508408.1_Missense_Mutation_p.P289S|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000340184.4_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	146	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCCCACATCCAGCTGCTTC	0.488													95	230					0	0	0	0	T	180374703	C	T	180374703	3	4	222	1	0	0	0	0	1	0	0	0	1576	855	30	2	905	2	BTNL8	5	180374703	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1871171	180374703	540557	366	40004											
BTNL3	10917	broad.mit.edu	37	chr5	180424227	180424227	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcccagcactgggctcacttCctctcatttccatcgtggga	6	12	8	15	1	2	0	2	0	1	0	7	1	5	1	3	2	1	2	3	2	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:180424227C>G	ENST00000342868.6	+	3	596	c.412C>G	c.(412-414)Cct>Gct	p.P138A		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	138	Ig-like V-type.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGGCTCACTTCCTCTCATTTC	0.498													39	128					0	0	0	0	G	180424227	C	G	180424227	3	3	222	1	0	0	0	0	1	0	0	0	1575	855	30	2	422	2	BTNL3	5	180424227	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	49524	180424227	491033	367	40005											
JARID2	3720	broad.mit.edu	37	chr6	15452388	15452388	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaagacagaagattttcttAcctttctctgccttcgaggt	9	15	7	10	1	2	3	0	0	2	3	4	4	2	3	2	1	2	0	2	1	3	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:15452388A>C	ENST00000341776.2	+	4	719	c.475A>C	c.(475-477)Acc>Ccc	p.T159P	JARID2_ENST00000541660.1_Missense_Mutation_p.T121P|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	159					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGATTTTCTTACCTTTCTCTG	0.468													26	85					0	0	0	0	C	15452388	A	C	15452388	3	2	222	1	0	0	0	0	1	0	0	0	7998	391	14	5	489	5	JARID2	6	15452388	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08		15452388	155662679	368	40006											
ALDH5A1	7915	broad.mit.edu	37	chr6	24533787	24533787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagagtggcagagcagctGgaagtgggcatggttggcgt	8	8	20	5	1	0	2	0	0	0	2	0	4	0	3	0	6	2	5	0	6	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:24533787G>A	ENST00000357578.3	+	10	1600	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L	ALDH5A1_ENST00000546278.1_Silent_p.L397L|ALDH5A1_ENST00000491546.1_Silent_p.L457L|ALDH5A1_ENST00000348925.2_Silent_p.L498L	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	485					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CAGAGCAGCTGGAAGTGGGCA	0.493													78	71					0	0	0	0	A	24533787	G	A	24533787	2	1	222	1	0	0	0	0	0	0	0	1	502	1335	47	4		4	ALDH5A1	6	24533787	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	9081399	24533787	146581280	369	40007											
NKAPL	222698	broad.mit.edu	37	chr6	28228212	28228212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatggaggctgtacgactgCgtaaggagaaccagatctac	13	7	13	8	2	1	2	0	0	1	2	1	6	1	3	1	3	4	3	1	3	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:28228212C>T	ENST00000343684.3	+	1	1115	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	355										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TGTACGACTGCGTAAGGAGAA	0.443													27	174					0	0	0	0	T	28228212	C	T	28228212	3	4	222	1	0	0	0	0	1	0	0	0	10510	768	27	1	1065	1	NKAPL	6	28228212	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3694425	28228212	142886855	370	40008											
OR2J3	442186	broad.mit.edu	37	chr6	29080330	29080330	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcattctcacttcttaTggtgccatcgtccgagctat	7	15	6	13	2	3	0	2	0	2	0	7	1	5	0	3	1	2	1	3	1	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:29080330T>A	ENST00000377169.1	+	1	663	c.663T>A	c.(661-663)taT>taA	p.Y221*		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCACTTCTTATGGTGCCATCG	0.448													16	137					0	0	0	0	A	29080330	T	A	29080330	4	1	222	1	0	0	0	0	0	1	0	0	11075	1471	51	5	665	5	OR2J3	6	29080330	Nonsense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	852118	29080330	142034737	371	40009											
DDR1	780	broad.mit.edu	37	chr6	30860151	30860151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccggcgtggccctgccAtggcctgggagggggagccc	3	6	18	14	2	0	0	0	0	0	0	1	2	1	2	5	6	2	1	5	6	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:30860151A>G	ENST00000324771.8	+	10	1479	c.931A>G	c.(931-933)Atg>Gtg	p.M311V	DDR1_ENST00000508312.1_Missense_Mutation_p.M329V|DDR1_ENST00000376570.4_Missense_Mutation_p.M311V|DDR1_ENST00000418800.2_Missense_Mutation_p.M311V|DDR1_ENST00000361741.4_Missense_Mutation_p.M42V|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_Missense_Mutation_p.M311V|DDR1_ENST00000376575.3_Missense_Mutation_p.M311V|DDR1_ENST00000452441.1_Missense_Mutation_p.M311V|DDR1_ENST00000376568.3_Missense_Mutation_p.M311V|DDR1_ENST00000376569.3_Missense_Mutation_p.M311V|DDR1_ENST00000376567.2_Missense_Mutation_p.M311V|DDR1_ENST00000513240.1_Missense_Mutation_p.M311V			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	311					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGGCCCTGCCATGGCCTGGGA	0.697													31	36					0	0	0	0	G	30860151	A	G	30860151	3	3	222	1	0	0	0	0	1	0	0	0	4368	217	8	5	957	5	DDR1	6	30860151	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1779821	30860151	140254916	372	40010											
NOTCH4	4855	broad.mit.edu	37	chr6	32169141	32169141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcagtaccaccagcagggCcagggagggcccccactctg	8	4	13	16	0	2	0	1	0	1	0	2	1	2	1	5	3	2	3	5	3	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:32169141C>T	ENST00000375023.3	-	22	4030	c.3892G>A	c.(3892-3894)Gcc>Acc	p.A1298T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1298					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACCAGCAGGGCCAGGGAGGGC	0.637													45	25					0	0	0	0	T	32169141	C	T	32169141	3	4	222	1	0	0	0	0	1	0	0	0	10621	739	26	4	2155	4	NOTCH4	6	32169141	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1308990	32169141	138945926	373	40011											
COL11A2	1302	broad.mit.edu	37	chr6	33146101	33146101	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaccgactctccaggcagcCctcgaggcccaatctccccg	7	6	8	20	3	3	0	1	0	2	0	6	2	3	0	6	2	1	1	6	2	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:33146101C>A	ENST00000341947.2	-	20	2029	c.1802G>T	c.(1801-1803)gGg>gTg	p.G601V	COL11A2_ENST00000374708.4_Missense_Mutation_p.G515V|COL11A2_ENST00000357486.1_Missense_Mutation_p.G580V|COL11A2_ENST00000361917.1_Missense_Mutation_p.G494V|COL11A2_ENST00000374714.1_Missense_Mutation_p.G575V|COL11A2_ENST00000374713.1_Missense_Mutation_p.G554V|COL11A2_ENST00000374712.1_Missense_Mutation_p.G520V|COL11A2_ENST00000395197.1_Missense_Mutation_p.G541V	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	601	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						TCCAGGCAGCCCTCGAGGCCC	0.617													18	141					4.75885e-15	1.00368e-14	1	0	A	33146101	C	A	33146101	3	1	222	1	0	0	0	0	1	0	0	0	3698	623	22	4	3596	4	COL11A2	6	33146101	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	976960	33146101	137968966	374	40012											
RGL2	5863	broad.mit.edu	37	chr6	33262943	33262943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggaataattatcctcCtcggagaaaatctggcagag	12	10	10	9	1	2	2	0	0	2	2	5	4	4	3	2	3	0	1	2	3	5	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:33262943C>T	ENST00000497454.1	-	9	1665	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Silent_p.E308E	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	390	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						AATTATCCTCCTCGGAGAAAA	0.577													4	23					0	0	0	0	T	33262943	C	T	33262943	2	4	222	1	0	0	0	0	0	0	0	1	13359	680	24	4		4	RGL2	6	33262943	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	116842	33262943	137852124	375	40013											
CPNE5	57699	broad.mit.edu	37	chr6	36766231	36766231	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttactggcagaactcaCgtgtttggataaatcaggac	12	10	11	8	1	2	1	2	0	0	1	2	3	2	3	0	3	2	4	0	3	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:36766231C>A	ENST00000244751.2	-	5	952		c.e5+1			NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V											central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCAGAACTCACGTGTTTGGAT	0.512													28	28					8.58068e-18	1.89786e-17	1	0	A	36766231	C	A	36766231	5	1	222	1	0	0	0	0	0	0	1	0	3845	550	19	3	1521	3	CPNE5	6	36766231	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3503288	36766231	134348836	376	40014											
DNAH8	1769	broad.mit.edu	37	chr6	38885916	38885916	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaagtgttgcctctgaaGgtaaaagtttccttccttct	10	14	9	8	0	2	2	0	1	2	1	4	3	4	2	3	1	1	3	3	1	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:38885916G>A	ENST00000359357.3	+	68	10127	c.9873_splice	c.e68+1	p.K3291_splice	DNAH8_ENST00000441566.1_Splice_Site_p.K3255_splice|DNAH8_ENST00000449981.2_Splice_Site_p.K3508_splice					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCCTCTGAAGGTAAAAGTTT	0.373													13	48					0	0	0	0	A	38885916	G	A	38885916	5	1	222	1	0	0	0	0	0	0	1	0	4643	1014	35	4	10135	4	DNAH8	6	38885916	Splice_Site	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2119685	38885916	132229151	377	40015											
NCR2	9436	broad.mit.edu	37	chr6	41304148	41304148	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctaagtccgtcagattcTatctggtggtatctccaggt	7	15	9	10	1	5	1	1	0	4	1	8	1	6	1	2	3	0	1	2	3	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:41304148T>G	ENST00000373083.4	+	2	598	c.376T>G	c.(376-378)Tat>Gat	p.Y126D	NCR2_ENST00000373086.3_Missense_Mutation_p.Y126D|NCR2_ENST00000373089.5_Missense_Mutation_p.Y126D	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	126					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CGTCAGATTCTATCTGGTGGT	0.532													59	31					0	0	0	0	G	41304148	T	G	41304148	3	3	222	1	0	0	0	0	1	0	0	0	10308	1522	53	5	382	5	NCR2	6	41304148	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2418232	41304148	129810919	378	40016											
TRERF1	55809	broad.mit.edu	37	chr6	42236484	42236484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatttcttgcatggagataCgctgttgcccggcttgctgc	5	14	12	10	2	1	1	0	0	1	1	1	2	1	1	1	2	5	6	1	2	2	6	rs147382652		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:42236484C>A	ENST00000541110.1	-	5	1413	c.845G>T	c.(844-846)cGt>cTt	p.R282L	TRERF1_ENST00000354325.2_Missense_Mutation_p.R282L|TRERF1_ENST00000372922.4_Missense_Mutation_p.R282L|TRERF1_ENST00000372917.4_Missense_Mutation_p.R282L|TRERF1_ENST00000340840.2_Missense_Mutation_p.R282L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	282	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CATGGAGATACGCTGTTGCCC	0.597													91	69					3.77759e-48	9.44639e-48	1	0	A	42236484	C	A	42236484	3	1	222	1	0	0	0	0	1	0	0	0	16570	536	19	3	2813	3	TRERF1	6	42236484	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	932336	42236484	128878583	379	40017											
PTCRA	171558	broad.mit.edu	37	chr6	42890971	42890971	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggatggcacctggaccaacTtggcccatctctccctgcct	6	9	9	17	1	1	0	0	0	1	0	3	2	2	2	5	4	2	1	5	4	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:42890971T>G	ENST00000304672.1	+	2	346	c.265T>G	c.(265-267)Ttg>Gtg	p.L89V	PTCRA_ENST00000441198.1_Missense_Mutation_p.L64V|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	89						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTGGACCAACTTGGCCCATCT	0.622													29	156					0	0	0	0	G	42890971	T	G	42890971	3	3	222	1	0	0	0	0	1	0	0	0	12814	1606	56	5	271	5	PTCRA	6	42890971	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	654487	42890971	128224096	380	40018											
CENPQ	55166	broad.mit.edu	37	chr6	49456174	49456174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaagaagaagaggagaGagtaaaacaggtaattattt	18	8	14	1	0	0	4	0	0	0	4	0	7	0	6	0	4	1	2	0	4	7	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:49456174G>T	ENST00000335783.3	+	7	681	c.587G>T	c.(586-588)aGa>aTa	p.R196I		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	196					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					GAAGAGGAGAGAGTAAAACAG	0.313													36	35					3.93418e-24	9.42755e-24	1	0	T	49456174	G	T	49456174	3	4	222	1	0	0	0	0	1	0	0	0	3270	942	33	2	609	2	CENPQ	6	49456174	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	6565203	49456174	121658893	381	40019											
RHAG	6005	broad.mit.edu	37	chr6	49578777	49578777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactgccacaatgcctgcaaGgcctcccactacaccaggta	11	7	7	16	0	0	0	0	0	0	0	1	0	1	0	5	2	5	2	5	2	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:49578777G>T	ENST00000371175.4	-	7	1053	c.1027C>A	c.(1027-1029)Ctt>Att	p.L343I	RHAG_ENST00000229810.7_Intron	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	343					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATGCCTGCAAGGCCTCCCACT	0.473													50	48					2.9001e-28	7.04465e-28	1	0	T	49578777	G	T	49578777	3	4	222	1	0	0	0	0	1	0	0	0	13398	1000	35	4	218	4	RHAG	6	49578777	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	122603	49578777	121536290	382	40020											
CRISP2	7180	broad.mit.edu	37	chr6	49665662	49665662	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctacctggtaagtcgagtaCcaaacaagctgcaaattaac	15	8	7	11	1	0	0	0	0	0	0	1	1	0	0	3	1	6	4	3	1	7	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:49665662C>A	ENST00000339139.4	-	8	662	c.426G>T	c.(424-426)tgG>tgT	p.W142C		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	142						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AAGTCGAGTACCAAACAAGCT	0.313													20	128					8.34094e-07	1.44414e-06	1	0	A	49665662	C	A	49665662	3	1	222	1	0	0	0	0	1	0	0	0	3910	508	18	4	317	4	CRISP2	6	49665662	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	86885	49665662	121449405	383	40021											
PKHD1	5314	broad.mit.edu	37	chr6	51750673	51750673	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaagcttacctgggcacCacctgcactttcccaaactg	13	8	6	14	0	0	0	0	0	0	0	1	0	1	0	4	1	4	3	4	1	5	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:51750673C>A	ENST00000371117.3	-	45	7482	c.7207G>T	c.(7207-7209)Ggt>Tgt	p.G2403C	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2403C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2403					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCTGGGCACCACCTGCACTT	0.388													14	46					1.3612e-06	2.34223e-06	1	0	A	51750673	C	A	51750673	3	1	222	1	0	0	0	0	1	0	0	0	12043	594	21	4	5148	4	PKHD1	6	51750673	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2085011	51750673	119364394	384	40022											
PKHD1	5314	broad.mit.edu	37	chr6	51947209	51947209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtccggcatgtcaccaCaggcaaatccaagaaaacag	14	5	9	13	1	1	1	1	0	0	1	3	1	3	1	4	3	1	2	4	3	4	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:51947209C>T	ENST00000371117.3	-	4	537	c.262G>A	c.(262-264)Gtg>Atg	p.V88M	PKHD1_ENST00000340994.4_Missense_Mutation_p.V88M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	88	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CATGTCACCACAGGCAAATCC	0.488													173	135					0	0	0	0	T	51947209	C	T	51947209	3	4	222	1	0	0	0	0	1	0	0	0	12043	478	17	4	12257	4	PKHD1	6	51947209	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	196536	51947209	119167858	385	40023											
TINAG	27283	broad.mit.edu	37	chr6	54173485	54173485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgttttgcaaggtactcGattcaaaagagccattttcc	11	12	7	11	2	1	1	1	0	0	1	3	2	2	1	3	1	3	3	3	1	4	6	rs147898099		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:54173485G>T	ENST00000259782.4	+	1	233	c.137G>T	c.(136-138)cGa>cTa	p.R46L	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Missense_Mutation_p.R28L|TINAG_ENST00000370869.3_Missense_Mutation_p.R42L	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	46					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CAAGGTACTCGATTCAAAAGA	0.428													33	165					1.45844e-13	2.95776e-13	1	0	T	54173485	G	T	54173485	3	4	222	1	0	0	0	0	1	0	0	0	16015	1058	37	3	139	3	TINAG	6	54173485	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2226276	54173485	116941582	386	40024											
TINAG	27283	broad.mit.edu	37	chr6	54214631	54214631	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccacgaagccatgtccCaacaacgtagaaaaatctaa	17	6	6	12	2	1	1	0	0	1	1	2	2	2	1	3	0	4	1	3	0	7	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:54214631C>T	ENST00000259782.4	+	7	1113	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	339					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGCCATGTCCCAACAACGTAG	0.443													96	60					0	0	0	0	T	54214631	C	T	54214631	2	4	222	1	0	0	0	0	0	0	0	1	16015	581	21	4		4	TINAG	6	54214631	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	41146	54214631	116900436	387	40025											
DST	667	broad.mit.edu	37	chr6	56347649	56347649	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggcctgcacactgctggtCctcttccccaactctttttg	5	13	8	15	0	2	0	0	0	2	0	4	0	4	0	4	2	3	2	4	2	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:56347649C>A	ENST00000370754.5	-	89	21140	c.21141G>T	c.(21139-21141)agG>agT	p.R7047S	DST_ENST00000370788.2_Missense_Mutation_p.R4672S|DST_ENST00000421834.2_Missense_Mutation_p.R4781S|DST_ENST00000446842.2_Missense_Mutation_p.R6543S|DST_ENST00000370769.4_Missense_Mutation_p.R6869S|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.R4455S|DST_ENST00000361203.3_Missense_Mutation_p.R6758S			Q03001	DYST_HUMAN	dystonin	6867					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACTGCTGGTCCTCTTCCCCA	0.443													21	77					5.45024e-15	1.14825e-14	1	0	A	56347649	C	A	56347649	3	1	222	1	0	0	0	0	1	0	0	0	4819	854	30	2	2210	2	DST	6	56347649	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2133018	56347649	114767418	388	40026											
ZNF451	26036	broad.mit.edu	37	chr6	57006110	57006110	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatattttaggaagccacagAtgatggacataacaacaacc	17	9	7	8	0	0	2	0	1	0	1	0	4	0	4	2	2	4	0	2	2	7	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:57006110A>T	ENST00000370706.4	+	8	957	c.713A>T	c.(712-714)gAt>gTt	p.D238V	RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D238V|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D238V|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GAAGCCACAGATGATGGACAT	0.323													6	42					0	0	0	0	T	57006110	A	T	57006110	3	4	222	1	0	0	0	0	1	0	0	0	18017	333	12	5	743	5	ZNF451	6	57006110	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	658461	57006110	114108957	389	40027											
KHDRBS2	202559	broad.mit.edu	37	chr6	62390894	62390894	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaccataggggtgttcccTgtatccccctctggctgacc	5	12	9	15	0	2	1	0	1	2	0	4	1	4	1	5	3	1	3	5	3	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:62390894T>C	ENST00000281156.4	-	9	1302	c.1024A>G	c.(1024-1026)Agg>Ggg	p.R342G	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGGTGTTCCCTGTATCCCCCT	0.498													17	32					0	0	0	0	C	62390894	T	C	62390894	3	2	222	1	0	0	0	0	1	0	0	0	8198	1579	55	5	29	5	KHDRBS2	6	62390894	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	5384784	62390894	108724173	390	40028											
COL19A1	1310	broad.mit.edu	37	chr6	70847590	70847590	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaaagggtgaaactggacTaccaggatttccagggtctg	11	10	13	7	0	1	2	0	2	1	0	2	4	2	4	2	4	2	0	2	4	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:70847590T>A	ENST00000322773.4	+	19	1499	c.1397T>A	c.(1396-1398)cTa>cAa	p.L466Q	COL19A1_ENST00000393344.1_Missense_Mutation_p.L88Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	466	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAAACTGGACTACCAGGATTT	0.408													36	104					0	0	0	0	A	70847590	T	A	70847590	3	1	222	1	0	0	0	0	1	0	0	0	3706	1522	53	5	1467	5	COL19A1	6	70847590	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	8456696	70847590	100267477	391	40029											
COL19A1	1310	broad.mit.edu	37	chr6	70859624	70859624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaccagctggagagccagGtattcaggtaagctatttaa	13	9	12	7	0	1	1	1	0	0	1	1	3	1	2	2	4	3	4	2	4	4	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:70859624G>T	ENST00000322773.4	+	28	2024	c.1922G>T	c.(1921-1923)gGt>gTt	p.G641V	COL19A1_ENST00000393344.1_Missense_Mutation_p.G263V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	641	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGAGAGCCAGGTATTCAGGTA	0.383													13	34					0.00244969	0.00387703	1	0	T	70859624	G	T	70859624	3	4	222	1	0	0	0	0	1	0	0	0	3706	1261	44	4	2028	4	COL19A1	6	70859624	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	12034	70859624	100255443	392	40030											
COL12A1	1303	broad.mit.edu	37	chr6	75893061	75893061	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgatcccttgctaggCacaaatattttctctctgac	8	16	5	12	0	3	2	0	2	3	0	5	2	4	2	1	1	1	2	1	1	3	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:75893061C>T	ENST00000322507.8	-	10	1905	c.1596G>A	c.(1594-1596)gtG>gtA	p.V532V	COL12A1_ENST00000416123.2_Silent_p.V532V|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.V532V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	532	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCTTGCTAGGCACAAATATTT	0.393													41	105					0	0	0	0	T	75893061	C	T	75893061	2	4	222	1	0	0	0	0	0	0	0	1	3699	697	25	4		4	COL12A1	6	75893061	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	5033437	75893061	95222006	393	40031											
SNAP91	9892	broad.mit.edu	37	chr6	84350842	84350842	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgagaaattcagacacTcgtgtcattctagttagaaa	14	12	7	8	1	3	3	2	1	1	3	4	4	3	3	1	0	0	1	1	0	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:84350842T>C	ENST00000428679.2	-	8	1331	c.738A>G	c.(736-738)cgA>cgG	p.R246R	SNAP91_ENST00000521485.1_Silent_p.R246R|SNAP91_ENST00000520213.1_Silent_p.R246R|SNAP91_ENST00000521743.1_Silent_p.R246R|SNAP91_ENST00000520302.1_Silent_p.R246R|SNAP91_ENST00000437520.1_Silent_p.R246R|SNAP91_ENST00000369694.2_Silent_p.R246R|SNAP91_ENST00000439399.2_Silent_p.R246R|SNAP91_ENST00000195649.6_Silent_p.R246R			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	246					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATTCAGACACTCGTGTCATTC	0.279													5	4					0	0	0	0	C	84350842	T	C	84350842	2	2	222	1	0	0	0	0	0	0	0	1	14921	1538	54	5		5	SNAP91	6	84350842	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	8457781	84350842	86764225	394	40032											
SNX14	57231	broad.mit.edu	37	chr6	86223949	86223949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaacctggaaaactaccCgtcctgagaaaggatcaaat	16	6	9	10	1	1	1	1	1	0	1	2	5	2	4	3	3	3	0	3	3	6	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:86223949C>A	ENST00000314673.3	-	25	2572	c.2396G>T	c.(2395-2397)cGg>cTg	p.R799L	SNX14_ENST00000346348.3_Missense_Mutation_p.R746L|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.R747L|SNX14_ENST00000369627.2_Missense_Mutation_p.R790L|SNX14_ENST00000513865.1_Missense_Mutation_p.R518L	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	799					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GAAAACTACCCGTCCTGAGAA	0.378													24	50					3.5997e-14	7.42367e-14	1	0	A	86223949	C	A	86223949	3	1	222	1	0	0	0	0	1	0	0	0	14973	652	23	3	464	3	SNX14	6	86223949	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1873107	86223949	84891118	395	40033											
HTR1E	3354	broad.mit.edu	37	chr6	87725582	87725582	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcagtgcaccatccagcAcgaccatgttatctacacca	12	9	6	14	1	2	0	1	0	1	0	3	1	3	0	4	0	3	3	4	0	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:87725582A>T	ENST00000305344.4	+	2	1233	c.530A>T	c.(529-531)cAc>cTc	p.H177L	HTR1E_ENST00000369584.1_Missense_Mutation_p.H177L	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	177					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	ACCATCCAGCACGACCATGTT	0.522													19	69					0	0	0	0	T	87725582	A	T	87725582	3	4	222	1	0	0	0	0	1	0	0	0	7492	159	6	5	532	5	HTR1E	6	87725582	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1501633	87725582	83389485	396	40034											
PNRC1	10957	broad.mit.edu	37	chr6	89790894	89790894	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcactcctcgggcagcgcCgaagaagcggcgaaagaaga	13	2	15	11	5	0	3	0	0	0	3	2	5	1	3	2	3	2	2	2	3	4	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:89790894C>G	ENST00000336032.3	+	1	398	c.281C>G	c.(280-282)cCg>cGg	p.P94R	PNRC1_ENST00000369472.1_Intron	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CGGGCAGCGCCGAAGAAGCGG	0.721										Multiple Myeloma(7;0.094)			6	14					0	0	0	0	G	89790894	C	G	89790894	3	3	222	1	0	0	0	0	1	0	0	0	12246	652	23	3	283	3	PNRC1	6	89790894	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2065312	89790894	81324173	397	40035											
SIM1	6492	broad.mit.edu	37	chr6	100838661	100838661	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatggtcacatggtgaagtgTtggcaagagcagagccatgg	11	9	15	6	0	1	3	1	1	0	2	1	3	1	3	1	4	2	3	1	4	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:100838661T>A	ENST00000369208.3	-	12	2659	c.1877A>T	c.(1876-1878)aAc>aTc	p.N626I	SIM1_ENST00000262901.4_Missense_Mutation_p.N626I			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	626	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGTGAAGTGTTGGCAAGAGC	0.493													53	123					0	0	0	0	A	100838661	T	A	100838661	3	1	222	1	0	0	0	0	1	0	0	0	14411	1725	60	5	427	5	SIM1	6	100838661	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	11047767	100838661	70276406	398	40036											
RTN4IP1	84816	broad.mit.edu	37	chr6	107069363	107069363	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccaaggaggaactgcagcCcagacctgaaacacacacag	15	4	9	13	0	0	2	0	1	0	1	1	4	1	4	3	2	4	1	3	2	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:107069363C>T	ENST00000539449.1	-	3	908	c.432G>A	c.(430-432)tgG>tgA	p.W144*	RTN4IP1_ENST00000369063.3_Nonsense_Mutation_p.W144*			Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	144						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GAACTGCAGCCCAGACCTGAA	0.418													26	95					0	0	0	0	T	107069363	C	T	107069363	4	4	222	1	0	0	0	0	0	1	0	0	13814	624	22	4	786	4	RTN4IP1	6	107069363	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	6230702	107069363	64045704	399	40037											
KIAA1919	91749	broad.mit.edu	37	chr6	111587866	111587866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttccctgggagaaatGgctattcctgcagtcattgg	7	12	13	9	0	1	1	1	0	0	1	3	2	3	1	2	4	2	3	2	4	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:111587866G>T	ENST00000368847.4	+	4	1454	c.1101G>T	c.(1099-1101)atG>atT	p.M367I		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	367					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TGGGAGAAATGGCTATTCCTG	0.423													34	97					1.30988e-24	3.14661e-24	1	0	T	111587866	G	T	111587866	3	4	222	1	0	0	0	0	1	0	0	0	8313	1348	47	4	1115	4	KIAA1919	6	111587866	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4518503	111587866	59527201	400	40038											
SAMD3	154075	broad.mit.edu	37	chr6	130535481	130535481	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatttatgaacatactcaCtctcgagctgcttctgtttg	8	15	7	11	1	3	1	1	1	2	0	4	2	3	1	1	0	4	3	1	0	3	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:130535481C>T	ENST00000532763.1	-	3	399		c.e3+1		SAMD3_ENST00000324172.6_Splice_Site|SAMD3_ENST00000439090.2_Splice_Site|SAMD3_ENST00000368134.2_Splice_Site|SAMD3_ENST00000437477.2_Splice_Site|SAMD3_ENST00000457563.2_Splice_Site|SAMD3_ENST00000533296.1_Splice_Site			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3											breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AACATACTCACTCTCGAGCTG	0.433													25	68					0	0	0	0	T	130535481	C	T	130535481	5	4	222	1	0	0	0	0	0	0	1	0	13905	579	20	4	1344	4	SAMD3	6	130535481	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	18947615	130535481	40579586	401	40039											
SAMD3	154075	broad.mit.edu	37	chr6	130536394	130536394	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaccaaccaactgcagaCctgctcaactgaccaggttt	11	8	6	16	0	1	2	1	1	0	1	2	2	2	2	5	1	5	3	5	1	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:130536394C>G	ENST00000532763.1	-	2	154	c.25G>C	c.(25-27)Gtc>Ctc	p.V9L	SAMD3_ENST00000324172.6_Missense_Mutation_p.V9L|SAMD3_ENST00000439090.2_Missense_Mutation_p.V9L|SAMD3_ENST00000368134.2_Missense_Mutation_p.V9L|SAMD3_ENST00000437477.2_Missense_Mutation_p.V9L|SAMD3_ENST00000457563.2_Missense_Mutation_p.V33L|SAMD3_ENST00000533296.1_5'UTR			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	9	SAM.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CAACTGCAGACCTGCTCAACT	0.398													10	41					0	0	0	0	G	130536394	C	G	130536394	3	3	222	1	0	0	0	0	1	0	0	0	13905	507	18	4	1593	4	SAMD3	6	130536394	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	913	130536394	40578673	402	40040											
ENPP1	5167	broad.mit.edu	37	chr6	132172336	132172336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaaggttgaccagaaGcctctgtgcctgttcagatg	11	10	12	8	0	2	4	1	2	1	3	2	5	2	4	3	1	2	2	3	1	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:132172336G>T	ENST00000360971.2	+	4	505	c.485G>T	c.(484-486)aGc>aTc	p.S162I		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	162	SMB 2.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTGACCAGAAGCCTCTGTGCC	0.458													32	61					2.42023e-17	5.31091e-17	1	0	T	132172336	G	T	132172336	3	4	222	1	0	0	0	0	1	0	0	0	5167	971	34	4	499	4	ENPP1	6	132172336	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1635942	132172336	38942731	403	40041											
STX7	8417	broad.mit.edu	37	chr6	132824653	132824653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcggggtcaccaccaactCctggagtgtaagacatggtt	9	8	14	10	1	1	1	1	0	0	1	2	2	2	2	3	5	1	2	3	5	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:132824653C>A	ENST00000367941.2	-	2	130	c.17G>T	c.(16-18)gGa>gTa	p.G6V	STX7_ENST00000367937.4_Missense_Mutation_p.G6V|STX7_ENST00000448348.3_5'UTR	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	6					intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ACCACCAACTCCTGGAGTGTA	0.413													31	72					4.11147e-13	8.22716e-13	1	0	A	132824653	C	A	132824653	3	1	222	1	0	0	0	0	1	0	0	0	15440	855	30	2	804	2	STX7	6	132824653	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	652317	132824653	38290414	404	40042											
VNN2	8875	broad.mit.edu	37	chr6	133072643	133072643	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactttgggaccatttggtgCataaataccacttcctgtga	10	13	8	10	0	0	1	0	1	0	0	1	2	1	2	3	2	2	1	3	2	3	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:133072643C>G	ENST00000326499.6	-	5	965	c.841G>C	c.(841-843)Gca>Cca	p.A281P	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Missense_Mutation_p.A228P	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	281	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CCATTTGGTGCATAAATACCA	0.413													23	45					0	0	0	0	G	133072643	C	G	133072643	3	3	222	1	0	0	0	0	1	0	0	0	17279	710	25	4	733	4	VNN2	6	133072643	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	247990	133072643	38042424	405	40043											
KIAA1244	57221	broad.mit.edu	37	chr6	138576847	138576847	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccagtccctctaccacCgagtgctgctctacccccca	6	9	6	20	1	2	0	0	0	2	0	4	1	4	0	7	0	5	3	7	0	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:138576847C>A	ENST00000251691.4	+	10	1211	c.1045C>A	c.(1045-1047)Cga>Aga	p.R349R		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	349					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)		CCTCTACCACCGAGTGCTGCT	0.602													6	14					0.00116845	0.00186436	1	0	A	138576847	C	A	138576847	2	1	222	1	0	0	0	0	0	0	0	1	8268	644	23	3		3	KIAA1244	6	138576847	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	5504204	138576847	32538220	406	40044											
ECT2L	345930	broad.mit.edu	37	chr6	139170518	139170518	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggatgggcagaaggcacAgagcatcggaatatttagcg	12	8	14	7	2	1	2	0	0	1	2	2	4	1	4	0	4	2	3	0	4	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:139170518A>C	ENST00000423192.1	+	8	1177	c.1016A>C	c.(1015-1017)cAg>cCg	p.Q339P	ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000541398.1_Missense_Mutation_p.Q270P|ECT2L_ENST00000367682.2_Missense_Mutation_p.Q339P			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	339					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CAGAAGGCACAGAGCATCGGA	0.468			"N, Splice, Mis"		ETP ALL								21	62					0	0	0	0	C	139170518	A	C	139170518	3	2	222	1	0	0	0	0	1	0	0	0	4938	188	7	5	1042	5	ECT2L	6	139170518	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	593671	139170518	31944549	407	40045											
PLAGL1	5325	broad.mit.edu	37	chr6	144263314	144263314	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccggtctgcaagctctcTttcatcagctcctgtgagtg	5	14	9	13	1	5	1	2	1	3	0	8	1	6	1	2	1	3	3	2	1	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:144263314T>C	ENST00000360537.2	-	5	2552	c.639A>G	c.(637-639)aaA>aaG	p.K213K	PLAGL1_ENST00000392307.1_Silent_p.K161K|PLAGL1_ENST00000367572.1_Silent_p.K161K|PLAGL1_ENST00000444202.1_Silent_p.K213K|PLAGL1_ENST00000367571.1_Silent_p.K213K|PLAGL1_ENST00000437412.1_Silent_p.K161K|PLAGL1_ENST00000429150.1_Silent_p.K213K|PLAGL1_ENST00000416623.1_Silent_p.K213K|PLAGL1_ENST00000392309.1_Silent_p.K213K|PLAGL1_ENST00000354765.2_Silent_p.K213K			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	213					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GCAAGCTCTCTTTCATCAGCT	0.547											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	107					0	0	0	0	C	144263314	T	C	144263314	2	2	222	1	0	0	0	0	0	0	0	1	12091	1606	56	5		5	PLAGL1	6	144263314	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	5092796	144263314	26851753	408	40046											
PCMT1	5110	broad.mit.edu	37	chr6	150094294	150094294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttccaagcaacaatcagtGctccacacatggtaagttaa	14	10	7	10	0	1	0	1	0	0	0	3	0	3	0	2	1	3	5	2	1	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:150094294G>T	ENST00000464889.1	+	3	639	c.355G>T	c.(355-357)Gct>Tct	p.A119S	PCMT1_ENST00000367384.2_Missense_Mutation_p.A119S|PCMT1_ENST00000544496.1_Missense_Mutation_p.A26S|PCMT1_ENST00000367378.1_Missense_Mutation_p.A119S|PCMT1_ENST00000367380.5_Missense_Mutation_p.A61S					protein-L-isoaspartate (D-aspartate) O-methyltransferase											kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		AACAATCAGTGCTCCACACAT	0.303													20	45					6.21321e-17	1.35429e-16	1	0	T	150094294	G	T	150094294	3	4	222	1	0	0	0	0	1	0	0	0	11656	1319	46	4	365	4	PCMT1	6	150094294	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5830980	150094294	21020773	409	40047											
AKAP12	9590	broad.mit.edu	37	chr6	151670376	151670376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctagcaagtctgcagaatctCcgactagtcccgtgaccagt	10	9	9	13	2	2	2	0	1	2	1	4	3	3	2	3	0	2	2	3	0	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:151670376C>A	ENST00000402676.2	+	4	1090	c.850C>A	c.(850-852)Ccg>Acg	p.P284T	AKAP12_ENST00000354675.6_Missense_Mutation_p.P186T|AKAP12_ENST00000359755.5_Missense_Mutation_p.P179T|AKAP12_ENST00000253332.1_Missense_Mutation_p.P284T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	284	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGCAGAATCTCCGACTAGTCC	0.483													16	33					2.31682e-05	3.83779e-05	1	0	A	151670376	C	A	151670376	3	1	222	1	0	0	0	0	1	0	0	0	448	855	30	2	889	2	AKAP12	6	151670376	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1576082	151670376	19444691	410	40048											
AKAP12	9590	broad.mit.edu	37	chr6	151673277	151673277	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatacagataaagaggtgTcagtggaaactgtatccatt	15	10	10	6	0	1	2	1	0	0	2	2	3	2	3	1	2	3	2	1	2	5	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:151673277T>A	ENST00000402676.2	+	4	3991	c.3751T>A	c.(3751-3753)Tca>Aca	p.S1251T	AKAP12_ENST00000354675.6_Missense_Mutation_p.S1153T|AKAP12_ENST00000359755.5_Missense_Mutation_p.S1146T|AKAP12_ENST00000253332.1_Missense_Mutation_p.S1251T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1251					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TAAAGAGGTGTCAGTGGAAAC	0.438													11	30					0	0	0	0	A	151673277	T	A	151673277	3	1	222	1	0	0	0	0	1	0	0	0	448	1667	58	5	3790	5	AKAP12	6	151673277	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2901	151673277	19441790	411	40049											
ESR1	2099	broad.mit.edu	37	chr6	152382208	152382208	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcggttccgcatgatgaatCtgcagggagaggagtttgtg	8	11	15	7	2	1	3	0	2	1	1	3	5	2	4	1	3	1	4	1	3	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:152382208C>T	ENST00000440973.1	+	8	1688	c.1318C>T	c.(1318-1320)Ctg>Ttg	p.L440L	ESR1_ENST00000456483.2_Silent_p.L328L|ESR1_ENST00000406599.1_Silent_p.L179L|ESR1_ENST00000443427.1_Silent_p.L440L|ESR1_ENST00000544394.1_Silent_p.L267L|ESR1_ENST00000206249.3_Silent_p.L440L|ESR1_ENST00000338799.5_Silent_p.L440L	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	440	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CATGATGAATCTGCAGGGAGA	0.413													13	15					0	0	0	0	T	152382208	C	T	152382208	2	4	222	1	0	0	0	0	0	0	0	1	5294	912	32	2		2	ESR1	6	152382208	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	708931	152382208	18732859	412	40050											
SYNE1	23345	broad.mit.edu	37	chr6	152529267	152529267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctgtcaatgatccccCgcctctgctgggccctgcga	4	10	11	16	2	3	1	1	1	2	0	4	2	4	1	4	2	2	2	4	2	1	0	rs149366576		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:152529267C>A	ENST00000367255.5	-	125	23265	c.22664G>T	c.(22663-22665)cGg>cTg	p.R7555L	SYNE1_ENST00000356820.4_Missense_Mutation_p.R2079L|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7484L|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7555L|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7484L|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7167L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7555					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATGATCCCCCGCCTCTGCTG	0.488										HNSCC(10;0.0054)			30	53					2.61193e-14	5.40371e-14	1	0	A	152529267	C	A	152529267	3	1	222	1	0	0	0	0	1	0	0	0	15536	652	23	3	3890	3	SYNE1	6	152529267	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	147059	152529267	18585800	413	40051											
SYNE1	23345	broad.mit.edu	37	chr6	152725381	152725381	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgtttctagatttttagtTaattctttcagatcattaac	10	20	6	5	0	4	2	2	0	2	2	4	2	4	2	0	1	1	2	0	1	4	9			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:152725381T>G	ENST00000367255.5	-	46	7393	c.6792A>C	c.(6790-6792)ttA>ttC	p.L2264F	SYNE1_ENST00000423061.1_Missense_Mutation_p.L2271F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L2264F|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000448038.1_Missense_Mutation_p.L2271F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L2301F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2264					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATTTTTAGTTAATTCTTTCA	0.328										HNSCC(10;0.0054)			40	63					0	0	0	0	G	152725381	T	G	152725381	3	3	222	1	0	0	0	0	1	0	0	0	15536	1751	61	5	20078	5	SYNE1	6	152725381	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	196114	152725381	18389686	414	40052											
SYNE1	23345	broad.mit.edu	37	chr6	152831418	152831418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccgtttacttggtgggctgGgagtctcagagctaactatg	7	13	13	8	1	1	1	1	0	1	1	3	2	2	2	1	3	3	3	1	3	3	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:152831418G>A	ENST00000367255.5	-	8	1092	c.491C>T	c.(490-492)cCc>cTc	p.P164L	SYNE1_ENST00000413186.2_Missense_Mutation_p.P164L|SYNE1_ENST00000367248.3_Missense_Mutation_p.P171L|SYNE1_ENST00000466159.2_Missense_Mutation_p.P164L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P171L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P164L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P171L|SYNE1_ENST00000367253.4_Missense_Mutation_p.P164L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P164L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	164	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGTGGGCTGGGAGTCTCAGA	0.493										HNSCC(10;0.0054)			25	66					0	0	0	0	A	152831418	G	A	152831418	3	1	222	1	0	0	0	0	1	0	0	0	15536	1232	43	4	26531	4	SYNE1	6	152831418	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	106037	152831418	18283649	415	40053											
CNKSR3	154043	broad.mit.edu	37	chr6	154762449	154762449	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggactgtagtggtcaggtCcaagcaaagctggataattt	11	11	12	7	0	1	0	1	0	0	0	2	2	2	2	1	4	2	3	1	4	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:154762449C>G	ENST00000607772.1	-	4	1028	c.484G>C	c.(484-486)Gac>Cac	p.D162H	CNKSR3_ENST00000479339.1_Missense_Mutation_p.D82H	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	162	CRIC.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GTGGTCAGGTCCAAGCAAAGC	0.373													35	76					0	0	0	0	G	154762449	C	G	154762449	3	3	222	1	0	0	0	0	1	0	0	0	3638	855	30	2	1223	2	CNKSR3	6	154762449	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1931031	154762449	16352618	416	40054											
SERAC1	84947	broad.mit.edu	37	chr6	158569896	158569896	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtcatatagtggatatttaCcagcaaatggattccgcagt	13	12	9	7	1	1	0	1	0	0	0	2	2	2	2	2	2	2	2	2	2	5	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:158569896C>G	ENST00000367102.2	-	5	497		c.e5+1		SERAC1_ENST00000607000.1_Splice_Site|SERAC1_ENST00000367104.3_Splice_Site|SERAC1_ENST00000367101.1_Splice_Site			Q96JX3	SRAC1_HUMAN	serine active site containing 1						GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TGGATATTTACCAGCAAATGG	0.338													9	29					0	0	0	0	G	158569896	C	G	158569896	5	3	222	1	0	0	0	0	0	0	1	0	14161	521	18	4	1660	4	SERAC1	6	158569896	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3807447	158569896	12545171	417	40055											
T	6862	broad.mit.edu	37	chr6	166571922	166571922	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttcgtacagtggggatcCcgaggaagagggcgccgaga	9	5	16	11	4	0	2	0	0	0	2	2	6	1	4	3	4	1	1	3	4	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:166571922C>A	ENST00000296946.2	-	9	1657	c.1189G>T	c.(1189-1191)Gga>Tga	p.G397*	T_ENST00000366871.3_Nonsense_Mutation_p.G339*	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	397					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		AGTGGGGATCCCGAGGAAGAG	0.692									Chordoma, Familial Clustering of				21	69					9.95505e-16	2.12716e-15	1	0	A	166571922	C	A	166571922	4	1	222	1	0	0	0	0	0	1	0	0	15579	632	22	4	122	4	T	6	166571922	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	8002026	166571922	4543145	418	40056											
KIF25	3834	broad.mit.edu	37	chr6	168434642	168434642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggacgccattcggacgacgGccctgttctgccgcttgacc	5	8	13	15	5	1	1	0	1	1	0	2	4	1	3	4	3	1	2	4	3	0	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:168434642G>A	ENST00000443060.2	+	5	639	c.248G>A	c.(247-249)gGc>gAc	p.G83D	KIF25_ENST00000354419.2_Missense_Mutation_p.G83D|KIF25_ENST00000351261.3_Missense_Mutation_p.G83D			Q9UIL4	KIF25_HUMAN	kinesin family member 25	83	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TCGGACGACGGCCCTGTTCTG	0.527													17	39					0	0	0	0	A	168434642	G	A	168434642	3	1	222	1	0	0	0	0	1	0	0	0	8344	1203	42	4	258	4	KIF25	6	168434642	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1862720	168434642	2680425	419	40057											
SDK1	221935	broad.mit.edu	37	chr7	4091359	4091359	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtccaccatggacacataacGaacctgaagaagtttaccgc	14	7	8	12	2	0	2	0	1	0	1	1	4	1	3	4	1	3	1	4	1	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:4091359G>C	ENST00000404826.2	+	19	2947	c.2808G>C	c.(2806-2808)acG>acC	p.T936T	SDK1_ENST00000389531.3_Silent_p.T936T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	936	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GACACATAACGAACCTGAAGA	0.577													40	83					0	0	0	0	C	4091359	G	C	4091359	2	2	222	1	0	0	0	0	0	0	0	1	14055	1045	37	3		3	SDK1	7	4091359	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08		4091359	155047304	420	40058											
USP42	84132	broad.mit.edu	37	chr7	6189425	6189425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaacaagttgcctgttcGccagtgtcagtctcaaccta	10	11	7	13	1	3	0	3	0	1	0	5	0	3	0	3	0	3	2	3	0	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:6189425G>T	ENST00000306177.5	+	13	1756	c.1598G>T	c.(1597-1599)cGc>cTc	p.R533L		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	533					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R661L(1)|p.R533L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TTGCCTGTTCGCCAGTGTCAG	0.428													21	49					8.34094e-07	1.44414e-06	1	0	T	6189425	G	T	6189425	3	4	222	1	0	0	0	0	1	0	0	0	17169	1087	38	3	1644	3	USP42	7	6189425	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2098066	6189425	152949238	421	40059											
C1GALT1	56913	broad.mit.edu	37	chr7	7278538	7278538	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtactggaattacaactaTtatcctcctgtagaggtaag	12	13	9	7	0	0	1	0	0	0	1	2	2	2	2	2	3	3	3	2	3	8	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:7278538T>A	ENST00000436587.2	+	3	1096	c.873T>A	c.(871-873)taT>taA	p.Y291*	C1GALT1_ENST00000223122.2_Nonsense_Mutation_p.Y291*|C1GALT1_ENST00000402468.3_Nonsense_Mutation_p.Y291*	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	291					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		ATTACAACTATTATCCTCCTG	0.313													10	26					0	0	0	0	A	7278538	T	A	7278538	4	1	222	1	0	0	0	0	0	1	0	0	1971	1500	52	5	879	5	C1GALT1	7	7278538	Nonsense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1089113	7278538	151860125	422	40060											
ARL4A	10124	broad.mit.edu	37	chr7	12728069	12728069	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaaattaaggtaaccttgGgaaattctaaaacagtcact	18	10	7	6	0	2	1	1	0	1	1	2	2	2	2	1	2	2	1	1	2	7	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:12728069G>C	ENST00000396663.1	+	2	672	c.190G>C	c.(190-192)Gga>Cga	p.G64R	ARL4A_ENST00000396662.1_Missense_Mutation_p.G64R|ARL4A_ENST00000356797.3_Missense_Mutation_p.G64R|ARL4A_ENST00000404894.1_Missense_Mutation_p.G64R|ARL4A_ENST00000396664.2_Missense_Mutation_p.G64R	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	64					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GGTAACCTTGGGAAATTCTAA	0.398													12	48					0	0	0	0	C	12728069	G	C	12728069	3	2	222	1	0	0	0	0	1	0	0	0	940	1233	43	4	192	4	ARL4A	7	12728069	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5449531	12728069	146410594	423	40061											
DNAH11	8701	broad.mit.edu	37	chr7	21628907	21628907	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgatcaatttgaaagtcgTatctataatgaatggaaaag	16	13	8	4	1	2	3	1	3	1	0	3	4	2	4	0	1	0	1	0	1	8	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:21628907T>A	ENST00000328843.6	+	12	2086	c.2055T>A	c.(2053-2055)cgT>cgA	p.R685R	DNAH11_ENST00000409508.3_Silent_p.R685R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	685	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGAAAGTCGTATCTATAATG	0.333									Kartagener syndrome				24	46					0	0	0	0	A	21628907	T	A	21628907	2	1	222	1	0	0	0	0	0	0	0	1	4636	1625	57	5		5	DNAH11	7	21628907	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	8900838	21628907	137509756	424	40062											
HOXA7	3204	broad.mit.edu	37	chr7	27196162	27196162	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacataatacgaagaactCataattttgacctgtgattt	14	15	5	7	1	2	3	2	2	0	1	2	4	2	3	1	0	2	0	1	0	5	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:27196162C>T	ENST00000242159.3	-	1	136	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	1					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						ACGAAGAACTCATAATTTTGA	0.443													30	97					0	0	0	0	T	27196162	C	T	27196162	1	4	222	1	0	0	0	0	0	0	0	0	7347	826	29	2		2	HOXA7	7	27196162	Translation_Start_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	5567255	27196162	131942501	425	40063											
CCDC129	223075	broad.mit.edu	37	chr7	31682573	31682573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccaagaccaccacgaGgggagaatgcccaaggaaag	14	3	13	11	1	0	2	0	0	0	2	0	5	0	3	4	3	2	0	4	3	4	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:31682573G>A	ENST00000319386.3	+	11	2138	c.1145G>A	c.(1144-1146)aGg>aAg	p.R382K	CCDC129_ENST00000409210.1_Missense_Mutation_p.R438K|CCDC129_ENST00000407970.3_Missense_Mutation_p.R530K|CCDC129_ENST00000451887.2_Missense_Mutation_p.R556K			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	530										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACCACCACGAGGGGAGAATGC	0.547													56	125					0	0	0	0	A	31682573	G	A	31682573	3	1	222	1	0	0	0	0	1	0	0	0	2789	1000	35	4	1627	4	CCDC129	7	31682573	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4486411	31682573	127456090	426	40064											
PDE1C	5137	broad.mit.edu	37	chr7	31890356	31890356	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagctccgtcagccagttCtgaaaggagattacagagca	12	8	10	11	1	2	3	1	1	1	2	4	4	4	3	3	1	4	3	3	1	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:31890356C>G	ENST00000396184.3	-	9	955		c.e9-1		PDE1C_ENST00000396191.1_Splice_Site|PDE1C_ENST00000396193.1_Splice_Site|PDE1C_ENST00000321453.7_Splice_Site|PDE1C_ENST00000396182.2_Splice_Site	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCAGCCAGTTCTGAAAGGAGA	0.468													17	44					0	0	0	0	G	31890356	C	G	31890356	5	3	222	1	0	0	0	0	0	0	1	0	11706	927	32	2	1194	2	PDE1C	7	31890356	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	207783	31890356	127248307	427	40065											
PDE1C	5137	broad.mit.edu	37	chr7	31917614	31917614	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caataacagctggtggatagCtcagtccaaccatgtttgat	12	11	9	9	0	1	1	1	1	0	0	2	2	2	2	2	2	4	3	2	2	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:31917614C>G	ENST00000396184.3	-	6	665	c.461G>C	c.(460-462)aGc>aCc	p.S154T	PDE1C_ENST00000396191.1_Missense_Mutation_p.S154T|PDE1C_ENST00000396193.1_Missense_Mutation_p.S214T|PDE1C_ENST00000321453.7_Missense_Mutation_p.S154T|PDE1C_ENST00000396182.2_Missense_Mutation_p.S154T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	154					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGGTGGATAGCTCAGTCCAAC	0.338													6	28					0	0	0	0	G	31917614	C	G	31917614	3	3	222	1	0	0	0	0	1	0	0	0	11706	797	28	4	1495	4	PDE1C	7	31917614	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	27258	31917614	127221049	428	40066											
AVL9	23080	broad.mit.edu	37	chr7	32590986	32590986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaaaacttcaactcattaCacatgcatattttgaagaga	17	11	5	8	0	2	2	2	1	0	1	2	3	2	2	0	0	5	2	0	0	6	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:32590986C>T	ENST00000318709.4	+	5	634	c.413C>T	c.(412-414)aCa>aTa	p.T138I	AVL9_ENST00000409301.1_Missense_Mutation_p.T138I|AVL9_ENST00000404479.1_Missense_Mutation_p.T138I	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	138						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAACTCATTACACATGCATAT	0.308													16	102					0	0	0	0	T	32590986	C	T	32590986	3	4	222	1	0	0	0	0	1	0	0	0	1232	478	17	4	431	4	AVL9	7	32590986	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	673372	32590986	126547677	429	40067											
HERPUD2	64224	broad.mit.edu	37	chr7	35673920	35673920	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaaaagcttcaatcacatAccatttcttcaagttccaag	15	12	3	11	0	4	0	3	0	1	0	5	0	5	0	2	0	3	2	2	0	7	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:35673920A>G	ENST00000396081.1	-	7	1864		c.e7+1		HERPUD2_ENST00000311350.3_Splice_Site	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2						response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TCAATCACATACCATTTCTTC	0.393													12	34					0	0	0	0	G	35673920	A	G	35673920	5	3	222	1	0	0	0	0	0	0	1	0	7114	405	14	5	167	5	HERPUD2	7	35673920	Splice_Site	SNP	A	TCGA-CR-7402-01A-11D-2012-08	3082934	35673920	123464743	430	40068											
SFRP4	6424	broad.mit.edu	37	chr7	37951857	37951857	+	Missense_Mutation	SNP	C	C	A																															cttgaagatctcttttacatCcaccaccgttgtgacctcat																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:37951857C>A	ENST00000436072.2	-	4	1032	c.655G>T	c.(655-657)Gat>Tat	p.D219Y	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	219	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TCTTTTACATCCACCACCGTT	0.433													18	47					2.48551e-13	4.99402e-13	1	0	A	37951857	C	A	37951857	3	1	222	1	0	0	0	0	1	0	0	0	14250	855	30	2	397	2	SFRP4	7	37951857	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2277937	37951857	121186806	431	40069	300	2									
SFRP4	6424	broad.mit.edu	37	chr7	37951858	37951858	+	Silent	SNP	C	C	G																															ttgaagatctcttttacatcCaccaccgttgtgacctcatt																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:37951858C>G	ENST00000436072.2	-	4	1031	c.654G>C	c.(652-654)gtG>gtC	p.V218V	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	218	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTTTTACATCCACCACCGTTG	0.433													18	46					0	0	0	0	G	37951858	C	G	37951858	2	3	222	1	0	0	0	0	0	0	0	1	14250	581	21	4		4	SFRP4	7	37951858	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1	37951858	121186805	432	40070	300	2									
C7orf10	79783	broad.mit.edu	37	chr7	40234623	40234623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgggatatgaagatatagacGagattgctcctcacatcatc	13	11	9	8	1	2	4	2	1	0	3	4	6	3	5	1	1	1	1	1	1	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:40234623G>C	ENST00000309930.5	+	6	493	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	C7orf10_ENST00000540834.1_Missense_Mutation_p.E150Q|C7orf10_ENST00000401647.2_Missense_Mutation_p.E157Q|C7orf10_ENST00000335693.4_Missense_Mutation_p.E157Q	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	157							transferase activity	p.E157*(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGATATAGACGAGATTGCTCC	0.428													44	138					0	0	0	0	C	40234623	G	C	40234623	3	2	222	1	0	0	0	0	1	0	0	0	2399	1073	37	3		3	C7orf10	7	40234623	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2282765	40234623	118904040	433	40071											
C7orf10	79783	broad.mit.edu	37	chr7	40498771	40498771	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcgggtacacaatagaaaAgagcttattaaaatattatc	17	12	6	6	1	0	2	0	0	0	2	2	2	0	2	0	1	2	2	0	1	10	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:40498771A>G	ENST00000309930.5	+	11	1005	c.981A>G	c.(979-981)aaA>aaG	p.K327K	C7orf10_ENST00000401647.2_Silent_p.K279K|C7orf10_ENST00000335693.4_Silent_p.K327K	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	327							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ACAATAGAAAAGAGCTTATTA	0.279													7	31					0	0	0	0	G	40498771	A	G	40498771	2	3	222	1	0	0	0	0	0	0	0	1	2399	69	3	5		5	C7orf10	7	40498771	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	264148	40498771	118639892	434	40072											
GLI3	2737	broad.mit.edu	37	chr7	42005670	42005670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctggccctcctcacgcCgtggcccggcgcatcgtgcg	2	7	14	18	7	1	0	1	0	0	0	4	0	2	0	4	3	1	2	4	3	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:42005670C>A	ENST00000395925.3	-	15	3085	c.3001G>T	c.(3001-3003)Ggc>Tgc	p.G1001C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1001					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTCCTCACGCCGTGGCCCGGC	0.756									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				8	10					0.000274275	0.000441235	1	0	A	42005670	C	A	42005670	3	1	222	1	0	0	0	0	1	0	0	0	6490	652	23	3	1745	3	GLI3	7	42005670	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1506899	42005670	117132993	435	40073											
TNS3	64759	broad.mit.edu	37	chr7	47408665	47408665	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttcaccaacgttgctGccaaaaccgtcagataggag	12	8	10	11	2	3	1	2	0	1	1	3	3	3	3	3	2	4	2	3	2	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:47408665G>T	ENST00000398879.1	-	17	1944	c.1578C>A	c.(1576-1578)ggC>ggA	p.G526G	TNS3_ENST00000355730.3_Silent_p.G286G|TNS3_ENST00000311160.9_Silent_p.G526G			Q68CZ2	TENS3_HUMAN	tensin 3	526						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CAACGTTGCTGCCAAAACCGT	0.627													21	30					1.2644e-06	2.18553e-06	1	0	T	47408665	G	T	47408665	2	4	222	1	0	0	0	0	0	0	0	1	16438	1306	46	4		4	TNS3	7	47408665	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5402995	47408665	111729998	436	40074											
TNS3	64759	broad.mit.edu	37	chr7	47474985	47474985	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcggtgcgtggagctctggCcagcccacatccatgatctg	6	8	14	13	2	2	1	0	1	2	0	3	2	3	2	3	4	3	1	3	4	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:47474985C>T	ENST00000398879.1	-	8	585	c.219G>A	c.(217-219)tgG>tgA	p.W73*	TNS3_ENST00000355730.3_Nonsense_Mutation_p.W73*|TNS3_ENST00000458317.2_Nonsense_Mutation_p.W73*|TNS3_ENST00000442536.2_Nonsense_Mutation_p.W73*|TNS3_ENST00000311160.9_Nonsense_Mutation_p.W73*			Q68CZ2	TENS3_HUMAN	tensin 3	73	Phosphatase tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGAGCTCTGGCCAGCCCACAT	0.517													25	81					0	0	0	0	T	47474985	C	T	47474985	4	4	222	1	0	0	0	0	0	1	0	0	16438	740	26	4	4214	4	TNS3	7	47474985	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	66320	47474985	111663678	437	40075											
C7orf57	136288	broad.mit.edu	37	chr7	48080958	48080958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaccacgtcccagtgaagcGctctgagaaggccgtggatg	9	8	13	11	3	1	2	0	2	1	1	2	4	2	3	3	2	2	1	3	2	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:48080958G>T	ENST00000348904.3	+	3	295	c.83G>T	c.(82-84)cGc>cTc	p.R28L	C7orf57_ENST00000539619.1_Missense_Mutation_p.R28L|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.R73L|C7orf57_ENST00000420324.1_Missense_Mutation_p.R73L	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	28										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CCAGTGAAGCGCTCTGAGAAG	0.582													10	43					2.80697e-09	5.18149e-09	1	0	T	48080958	G	T	48080958	3	4	222	1	0	0	0	0	1	0	0	0	2427	1087	38	3	89	3	C7orf57	7	48080958	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	605973	48080958	111057705	438	40076											
ABCA13	154664	broad.mit.edu	37	chr7	48443395	48443395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgggcatgtcgaggaccGtggttctggatgagcccacc	7	9	14	11	2	2	1	1	1	1	0	3	4	2	3	3	4	1	2	3	4	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:48443395G>T	ENST00000435803.1	+	39	12013	c.11989G>T	c.(11989-11991)Gtg>Ttg	p.V3997L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3997	ABC transporter 1.				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						GTCGAGGACCGTGGTTCTGGA	0.572													9	25					1.76689e-08	3.20701e-08	1	0	T	48443395	G	T	48443395	3	4	222	1	0	0	0	0	1	0	0	0	31	1145	40	3	11972	3	ABCA13	7	48443395	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	362437	48443395	110695268	439	40077											
ABCA13	154664	broad.mit.edu	37	chr7	48619833	48619833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagagacgccgtggacCtgtcttctgctggcacggca	6	9	13	13	3	3	1	0	0	3	1	3	3	3	2	2	3	2	4	2	3	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:48619833C>A	ENST00000435803.1	+	56	14392	c.14368C>A	c.(14368-14370)Ctg>Atg	p.L4790M	ABCA13_ENST00000544596.1_Missense_Mutation_p.L520M	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4790	ABC transporter 2.				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						CGCCGTGGACCTGTCTTCTGC	0.522													4	8					2.7689e-08	5.01638e-08	1	0	A	48619833	C	A	48619833	3	1	222	1	0	0	0	0	1	0	0	0	31	680	24	4	14419	4	ABCA13	7	48619833	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	176438	48619833	110518830	440	40078											
ZPBP	11055	broad.mit.edu	37	chr7	50070687	50070687	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taacaaattgtatagacttaCctgaaaatgcaaagaacaat	20	10	5	6	0	0	3	0	1	0	2	0	3	0	3	1	0	4	2	1	0	10	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:50070687C>A	ENST00000046087.2	-	5	776		c.e5+1		ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Splice_Site	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein						binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TATAGACTTACCTGAAAATGC	0.299													4	52					0.000602214	0.000964828	1	0	A	50070687	C	A	50070687	5	1	222	1	0	0	0	0	0	0	1	0	18312	521	18	4	364	4	ZPBP	7	50070687	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1450854	50070687	109067976	441	40079											
COBL	23242	broad.mit.edu	37	chr7	51261227	51261227	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaatttcaagggcatggTgggatggattcaggtggttc	9	11	15	6	1	2	0	2	0	0	0	3	3	2	2	1	6	0	2	1	6	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:51261227T>A	ENST00000395542.2	-	3	489	c.305A>T	c.(304-306)cAc>cTc	p.H102L	COBL_ENST00000265136.7_Missense_Mutation_p.H102L|COBL_ENST00000395540.2_Missense_Mutation_p.H102L|COBL_ENST00000441453.1_Missense_Mutation_p.H102L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	102										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AAGGGCATGGTGGGATGGATT	0.413													10	45					0	0	0	0	A	51261227	T	A	51261227	3	1	222	1	0	0	0	0	1	0	0	0	3683	1696	59	5	3524	5	COBL	7	51261227	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1190540	51261227	107877436	442	40080											
ZNF479	90827	broad.mit.edu	37	chr7	57188157	57188157	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacacctgcagggtttcTctccagtatgaattctcttg	7	14	7	13	0	3	1	1	1	2	0	6	1	4	1	3	1	1	3	3	1	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:57188157T>G	ENST00000331162.4	-	5	1235	c.965A>C	c.(964-966)gAg>gCg	p.E322A		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GCAGGGTTTCTCTCCAGTATG	0.443													15	37					0	0	0	0	G	57188157	T	G	57188157	3	3	222	1	0	0	0	0	1	0	0	0	18028	1551	54	5	613	5	ZNF479	7	57188157	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	5926930	57188157	101950506	443	40081											
ZNF716	441234	broad.mit.edu	37	chr7	57529257	57529257	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaagcctttaccttcTcctcaactctaaatactcat	11	13	5	12	0	4	0	2	0	2	0	5	1	4	1	3	1	4	0	3	1	6	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:57529257T>C	ENST00000420713.1	+	4	1202	c.1090T>C	c.(1090-1092)Tcc>Ccc	p.S364P		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CTTTACCTTCTCCTCAACTCT	0.403													8	22					0	0	0	0	C	57529257	T	C	57529257	3	2	222	1	0	0	0	0	1	0	0	0	18214	1551	54	5	1104	5	ZNF716	7	57529257	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	341100	57529257	101609406	444	40082											
ZNF107	51427	broad.mit.edu	37	chr7	64166767	64166767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagattctttccagaaaGtgacactgagaagatacgga	17	9	9	6	1	1	5	0	2	1	4	2	7	2	6	1	1	1	0	1	1	5	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:64166767G>T	ENST00000395391.1	+	4	1460	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	ZNF107_ENST00000423627.1_Missense_Mutation_p.V29L|ZNF107_ENST00000344930.3_Missense_Mutation_p.V29L			Q9UII5	ZN107_HUMAN	zinc finger protein 107	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTTCCAGAAAGTGACACTGAG	0.358													14	17					1.5842e-08	2.88077e-08	1	0	T	64166767	G	T	64166767	3	4	222	1	0	0	0	0	1	0	0	0	17810	1029	36	4	91	4	ZNF107	7	64166767	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	6637510	64166767	94971896	445	40083											
ZNF92	168374	broad.mit.edu	37	chr7	64863788	64863788	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaataattcatactggagAgaaaccctacaaatgtgaag	19	9	7	6	0	1	2	1	1	0	1	1	4	1	3	1	1	3	0	1	1	8	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:64863788A>G	ENST00000328747.7	+	4	960	c.761A>G	c.(760-762)gAg>gGg	p.E254G	ZNF92_ENST00000450302.2_Missense_Mutation_p.E185G|ZNF92_ENST00000431504.1_Missense_Mutation_p.E178G|ZNF92_ENST00000357512.2_Missense_Mutation_p.E222G	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				CATACTGGAGAGAAACCCTAC	0.348													27	36					0	0	0	0	G	64863788	A	G	64863788	3	3	222	1	0	0	0	0	1	0	0	0	18294	304	11	5	775	5	ZNF92	7	64863788	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	697021	64863788	94274875	446	40084											
WBSCR17	64409	broad.mit.edu	37	chr7	71036356	71036356	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatcctggcatggatgtatAcggaggagaaaatattgaac	14	9	13	5	1	0	2	0	1	0	1	1	6	1	5	1	5	2	2	1	5	6	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:71036356A>G	ENST00000333538.5	+	6	1683	c.1049A>G	c.(1048-1050)tAc>tGc	p.Y350C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	350	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATGGATGTATACGGAGGAGAA	0.512													29	76					0	0	0	0	G	71036356	A	G	71036356	3	3	222	1	0	0	0	0	1	0	0	0	17360	391	14	5	1071	5	WBSCR17	7	71036356	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	6172568	71036356	88102307	447	40085											
WBSCR28	135886	broad.mit.edu	37	chr7	73279506	73279506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgggctggctctgatacagGtccccgtatggctggtgcta	5	11	14	11	1	1	1	0	1	1	0	2	1	2	1	2	5	2	5	2	5	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:73279506G>T	ENST00000320531.2	+	2	292	c.256G>T	c.(256-258)Gtc>Ttc	p.V86F		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	86						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TCTGATACAGGTCCCCGTATG	0.692													34	75					4.02929e-09	7.41677e-09	1	0	T	73279506	G	T	73279506	3	4	222	1	0	0	0	0	1	0	0	0	17363	1261	44	4	262	4	WBSCR28	7	73279506	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2243150	73279506	85859157	448	40086											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73969543	73969543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcaaagagcccatcatGgatagtcaaggtacccagcg	13	6	12	10	1	3	1	3	0	0	1	3	3	3	3	2	3	3	1	2	3	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:73969543G>T	ENST00000476977.1	+	18	3647	c.1956G>T	c.(1954-1956)atG>atT	p.M652I	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.M684I|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.M652I|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.M652I			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	652			M -> V (in dbSNP:rs2301895).			nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCCCATCATGGATAGTCAAG	0.637													23	57					2.89027e-11	5.5888e-11	1	0	T	73969543	G	T	73969543	3	4	222	1	0	0	0	0	1	0	0	0	6918	1348	47	4	2022	4	GTF2IRD1	7	73969543	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	690037	73969543	85169120	449	40087											
CD36	948	broad.mit.edu	37	chr7	80285972	80285972	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggaagtgatgatgaaCagcagcaacattcaagttaa	17	7	9	8	0	1	3	1	3	0	0	1	4	1	4	1	1	4	3	1	1	5	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:80285972C>T	ENST00000435819.1	+	7	921	c.237C>T	c.(235-237)aaC>aaT	p.N79N	CD36_ENST00000309881.7_Silent_p.N79N|CD36_ENST00000538969.1_Silent_p.N79N|CD36_ENST00000432207.1_Silent_p.N79N|CD36_ENST00000441109.2_3'UTR|CD36_ENST00000544133.1_Silent_p.N79N|CD36_ENST00000447544.2_Silent_p.N79N|CD36_ENST00000394788.3_Silent_p.N79N|CD36_ENST00000534394.1_Silent_p.N3N|CD36_ENST00000433696.2_Silent_p.N79N			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	79					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGATGATGAACAGCAGCAACA	0.388													12	53					0	0	0	0	T	80285972	C	T	80285972	2	4	222	1	0	0	0	0	0	0	0	1	3036	477	17	4		4	CD36	7	80285972	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	6316429	80285972	78852691	450	40088											
PCLO	27445	broad.mit.edu	37	chr7	82451863	82451863	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggcagcagctatggcagcCcctgcatcttccaggtgggt	6	9	13	13	1	1	0	0	0	1	0	3	0	2	0	3	4	4	5	3	4	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:82451863C>A	ENST00000423517.2	-	20	15076	c.14739G>T	c.(14737-14739)ggG>ggT	p.G4913G	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Silent_p.G4913G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4775					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTATGGCAGCCCCTGCATCTT	0.498													71	176					3.31162e-33	8.16615e-33	1	0	A	82451863	C	A	82451863	2	1	222	1	0	0	0	0	0	0	0	1	11654	610	22	4		4	PCLO	7	82451863	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2165891	82451863	76686800	451	40089											
ABCB1	5243	broad.mit.edu	37	chr7	87160614	87160614	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atttagtttgactcaccttcCcagaaccttctagttctttc	8	17	4	12	0	3	2	1	1	2	1	5	2	4	2	3	0	1	2	3	0	3	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:87160614C>G	ENST00000265724.3	-	22	3098	c.2681G>C	c.(2680-2682)gGg>gCg	p.G894A	ABCB1_ENST00000543898.1_Missense_Mutation_p.G830A|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	894	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ACTCACCTTCCCAGAACCTTC	0.343													23	36					0	0	0	0	G	87160614	C	G	87160614	3	3	222	1	0	0	0	0	1	0	0	0	40	623	22	4	1193	4	ABCB1	7	87160614	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4708751	87160614	71978049	452	40090											
PEX1	5189	broad.mit.edu	37	chr7	92134134	92134134	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgaggtcaaggtcatcCagcaggacaacagatggctg	13	6	13	9	0	2	2	2	1	0	1	3	3	3	3	1	4	2	3	1	4	3	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:92134134C>A	ENST00000248633.4	-	12	2078	c.1983G>T	c.(1981-1983)ctG>ctT	p.L661L	PEX1_ENST00000541751.1_Silent_p.L78L|PEX1_ENST00000428214.1_Intron|PEX1_ENST00000438045.1_Silent_p.L339L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	661			Missing (in NALD).		microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAAGGTCATCCAGCAGGACAA	0.502													30	84					3.57733e-08	6.44513e-08	1	0	A	92134134	C	A	92134134	2	1	222	1	0	0	0	0	0	0	0	1	11807	581	21	4		4	PEX1	7	92134134	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4973520	92134134	67004529	453	40091											
PON1	5444	broad.mit.edu	37	chr7	94944746	94944746	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcattcaggtccatcagAagtatttttccaggactgtt	9	16	7	9	0	4	1	3	0	1	1	6	2	6	2	2	2	0	2	2	2	2	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:94944746A>G	ENST00000222381.3	-	4	489	c.258T>C	c.(256-258)ctT>ctC	p.L86L	PON1_ENST00000542556.1_Silent_p.L86L	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	86					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GGTCCATCAGAAGTATTTTTC	0.388													20	55					0	0	0	0	G	94944746	A	G	94944746	2	3	222	1	0	0	0	0	0	0	0	1	12320	233	9	5		5	PON1	7	94944746	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2810612	94944746	64193917	454	40092											
ZNF789	285989	broad.mit.edu	37	chr7	99084446	99084446	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagtcttatgaatgcagtGaatgtggaaaagtcattagg	15	11	11	4	0	2	2	1	2	1	0	2	3	2	3	0	2	1	1	0	2	7	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:99084446G>C	ENST00000331410.5	+	5	883	c.613G>C	c.(613-615)Gaa>Caa	p.E205Q	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGAATGCAGTGAATGTGGAAA	0.418													34	55					0	0	0	0	C	99084446	G	C	99084446	3	2	222	1	0	0	0	0	1	0	0	0	18253	1291	45	2	669	2	ZNF789	7	99084446	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4139700	99084446	60054217	455	40093											
ZNF394	84124	broad.mit.edu	37	chr7	99097390	99097390	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatggtgaggaactgctcCagcaccagcagctccaggat	11	6	13	11	0	0	1	0	1	0	0	2	4	2	4	3	4	5	4	3	4	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:99097390C>T	ENST00000337673.6	-	1	530	c.327G>A	c.(325-327)ctG>ctA	p.L109L	ZNF394_ENST00000426306.2_Silent_p.L109L|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	109	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGAACTGCTCCAGCACCAGCA	0.672													5	134					0	0	0	0	T	99097390	C	T	99097390	2	4	222	1	0	0	0	0	0	0	0	1	17975	581	21	4		4	ZNF394	7	99097390	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	12944	99097390	60041273	456	40094											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99124011	99124011	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcatctgatcgaacacctaAaacgccacttcagggagaaa	15	6	8	12	3	2	2	1	1	1	1	3	4	2	2	2	1	2	1	2	1	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:99124011A>C	ENST00000394170.2	+	6	1599	c.1348A>C	c.(1348-1350)Aaa>Caa	p.K450Q	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.K450Q|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.K450Q	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	450					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CGAACACCTAAAACGCCACTT	0.502													79	190					0	0	0	0	C	99124011	A	C	99124011	3	2	222	1	0	0	0	0	1	0	0	0	17785	15	1	5	1366	5	ZKSCAN5	7	99124011	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	26621	99124011	60014652	457	40095											
ZNF655	79027	broad.mit.edu	37	chr7	99170651	99170651	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatcttacaaatgtagcaGttgtgaaagagtcttcagtc	14	12	8	7	0	3	2	1	1	2	1	4	2	3	2	0	0	2	3	0	0	5	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:99170651G>C	ENST00000424881.1	+	4	1245	c.1025G>C	c.(1024-1026)aGt>aCt	p.S342T	ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.S342T|ZNF655_ENST00000252713.4_Missense_Mutation_p.S307T|ZNF655_ENST00000394163.2_Missense_Mutation_p.S307T|ZNF655_ENST00000419215.2_3'UTR	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	307					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AAATGTAGCAGTTGTGAAAGA	0.413													20	52					0	0	0	0	C	99170651	G	C	99170651	3	2	222	1	0	0	0	0	1	0	0	0	18163	1029	36	4	1457	4	ZNF655	7	99170651	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	46640	99170651	59968012	458	40096											
TFR2	7036	broad.mit.edu	37	chr7	100225246	100225246	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcccacaaaggccgtgAaggaataggcactgctgtcc	11	6	12	12	1	0	1	0	1	0	0	2	3	2	3	3	4	1	2	3	4	4	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:100225246A>T	ENST00000462107.1	-	16	2008	c.1721T>A	c.(1720-1722)tTc>tAc	p.F574Y	TFR2_ENST00000544242.1_Missense_Mutation_p.F115Y|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.F574Y			Q9UP52	TFR2_HUMAN	transferrin receptor 2	574					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AAAGGCCGTGAAGGAATAGGC	0.632													9	39					0	0	0	0	T	100225246	A	T	100225246	3	4	222	1	0	0	0	0	1	0	0	0	15905	246	9	5	700	5	TFR2	7	100225246	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1054595	100225246	58913417	459	40097											
MUC17	140453	broad.mit.edu	37	chr7	100676773	100676773	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagcactccattaacaagTatgcctgtcaacaccacact	14	8	6	13	0	1	0	1	0	0	0	2	1	2	1	3	1	4	2	3	1	5	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:100676773T>C	ENST00000306151.4	+	3	2140	c.2076T>C	c.(2074-2076)agT>agC	p.S692S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	692	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CATTAACAAGTATGCCTGTCA	0.493													213	468					0	0	0	0	C	100676773	T	C	100676773	2	2	222	1	0	0	0	0	0	0	0	1	10044	1635	57	5		5	MUC17	7	100676773	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	451527	100676773	58461890	460	40098											
RELN	5649	broad.mit.edu	37	chr7	103292197	103292197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattcagtgtgaaggagggaCcaggagcgcccatggttggt	9	8	16	8	1	1	1	1	1	0	0	1	4	1	4	2	5	1	1	2	5	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:103292197C>G	ENST00000428762.1	-	15	1962	c.1803G>C	c.(1801-1803)tgG>tgC	p.W601C	RELN_ENST00000343529.5_Missense_Mutation_p.W601C|RELN_ENST00000424685.2_Missense_Mutation_p.W601C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	601					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAGGAGGGACCAGGAGCGCC	0.478													14	32					0	0	0	0	G	103292197	C	G	103292197	3	3	222	1	0	0	0	0	1	0	0	0	13302	508	18	4	8783	4	RELN	7	103292197	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2615424	103292197	55846466	461	40099											
RINT1	60561	broad.mit.edu	37	chr7	105204333	105204333	+	Missense_Mutation	SNP	C	C	T																															taaagcatgatatgttgaccCgtcaagtagaccacgttttt																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:105204333C>T	ENST00000257700.2	+	12	2056	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	609	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TATGTTGACCCGTCAAGTAGA	0.383													12	43					0	0	0	0	T	105204333	C	T	105204333	3	4	222	1	0	0	0	0	1	0	0	0	13461	652	23	1	1871	1	RINT1	7	105204333	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1912136	105204333	53934330	462	40100	301	2									
RINT1	60561	broad.mit.edu	37	chr7	105204334	105204334	+	Missense_Mutation	SNP	G	G	A																															aaagcatgatatgttgacccGtcaagtagaccacgttttta																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:105204334G>A	ENST00000257700.2	+	12	2057	c.1826G>A	c.(1825-1827)cGt>cAt	p.R609H		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	609	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATGTTGACCCGTCAAGTAGAC	0.388													12	43					0	0	0	0	A	105204334	G	A	105204334	3	1	222	1	0	0	0	0	1	0	0	0	13461	1145	40	1	1872	1	RINT1	7	105204334	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1	105204334	53934329	463	40101	301	2									
LAMB4	22798	broad.mit.edu	37	chr7	107746424	107746424	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaagcaaagcatccccAagggtgtggagcttggtaaa	12	8	11	10	0	0	0	0	0	0	0	2	1	2	1	3	3	3	4	3	3	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:107746424A>G	ENST00000388781.3	-	8	791	c.708T>C	c.(706-708)ctT>ctC	p.L236L	LAMB4_ENST00000414450.2_Silent_p.L236L|LAMB4_ENST00000388780.3_Silent_p.L236L|LAMB4_ENST00000205386.4_Silent_p.L236L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	236	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AAGCATCCCCAAGGGTGTGGA	0.418													16	42					0	0	0	0	G	107746424	A	G	107746424	2	3	222	1	0	0	0	0	0	0	0	1	8666	117	5	5		5	LAMB4	7	107746424	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2542090	107746424	51392239	464	40102											
LRRN3	54674	broad.mit.edu	37	chr7	110762957	110762957	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggccttggtttacaccCagatccatttatatggaagc	11	12	8	10	0	1	1	1	0	0	1	2	2	2	2	3	3	2	1	3	3	4	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:110762957C>A	ENST00000451085.1	+	4	1175	c.129C>A	c.(127-129)ccC>ccA	p.P43P	LRRN3_ENST00000422987.3_Silent_p.P43P|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Silent_p.P43P|IMMP2L_ENST00000489381.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	43	LRRNT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGTTTACACCCAGATCCATTT	0.413													27	80					1.26454e-06	2.18553e-06	1	0	A	110762957	C	A	110762957	2	1	222	1	0	0	0	0	0	0	0	1	9100	581	21	4		4	LRRN3	7	110762957	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3016533	110762957	48375706	465	40103											
DOCK4	9732	broad.mit.edu	37	chr7	111540519	111540519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttcagaccacctgggaCtgttgttatggtaaagcaca	11	10	11	9	0	1	1	1	0	0	1	1	2	1	2	2	2	1	6	2	2	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:111540519C>A	ENST00000428084.1	-	15	1663	c.1391G>T	c.(1390-1392)aGt>aTt	p.S464I	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.S464I			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	464	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCACCTGGGACTGTTGTTATG	0.488													7	18					0.00621372	0.00977084	1	0	A	111540519	C	A	111540519	3	1	222	1	0	0	0	0	1	0	0	0	4725	565	20	4	4661	4	DOCK4	7	111540519	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	777562	111540519	47598144	466	40104											
ASZ1	136991	broad.mit.edu	37	chr7	117023080	117023080	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctatcagaatctgttgtcaAtattttacaaatagtgtctt	12	18	5	6	0	5	1	2	0	3	1	5	1	5	1	0	0	1	1	0	0	7	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:117023080A>T	ENST00000284629.2	-	7	834	c.772T>A	c.(772-774)Ttg>Atg	p.L258M		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	258					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCTGTTGTCAATATTTTACAA	0.259													12	46					0	0	0	0	T	117023080	A	T	117023080	3	4	222	1	0	0	0	0	1	0	0	0	1073	98	4	5	683	5	ASZ1	7	117023080	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	5482561	117023080	42115583	467	40105											
CFTR	1080	broad.mit.edu	37	chr7	117246788	117246788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgaccttctgcctcttaCcatatttgacttcatccagg	8	14	7	12	0	3	2	1	2	2	0	4	3	4	3	4	2	2	0	4	2	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:117246788C>A	ENST00000003084.6	+	18	3101	c.2969C>A	c.(2968-2970)aCc>aAc	p.T990N	CFTR_ENST00000454343.1_Missense_Mutation_p.T929N|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	990	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTGCCTCTTACCATATTTGAC	0.289									Cystic Fibrosis				23	89					3.28513e-13	6.58712e-13	1	0	A	117246788	C	A	117246788	3	1	222	1	0	0	0	0	1	0	0	0	3323	507	18	4	3039	4	CFTR	7	117246788	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	223708	117246788	41891875	468	40106											
HYAL4	23553	broad.mit.edu	37	chr7	123508735	123508735	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattattacatccctgctgaAgatttcagtggacttgctgt	10	15	8	8	0	1	2	1	1	0	1	2	3	2	3	1	1	3	2	1	1	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:123508735A>G	ENST00000223026.4	+	3	1046	c.408A>G	c.(406-408)gaA>gaG	p.E136E	HYAL4_ENST00000476325.1_Silent_p.E136E	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	136					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCCCTGCTGAAGATTTCAGTG	0.428													19	63					0	0	0	0	G	123508735	A	G	123508735	2	3	222	1	0	0	0	0	0	0	0	1	7519	69	3	5		5	HYAL4	7	123508735	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	6261947	123508735	35629928	469	40107											
GCC1	79571	broad.mit.edu	37	chr7	127223058	127223058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacctggcttttcctggcCgcaacctgcagcagcctctt	5	11	9	16	1	2	0	1	0	1	0	3	0	3	0	5	2	4	4	5	2	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:127223058C>T	ENST00000321407.2	-	2	1762	c.1338G>A	c.(1336-1338)gcG>gcA	p.A446A	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	446						Golgi membrane|plasma membrane	protein binding	p.A446A(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTTTCCTGGCCGCAACCTGCA	0.557													45	132					0	0	0	0	T	127223058	C	T	127223058	2	4	222	1	0	0	0	0	0	0	0	1	6334	639	23	1		1	GCC1	7	127223058	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3714323	127223058	31915605	470	40108											
DGKI	9162	broad.mit.edu	37	chr7	137237200	137237200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagatccgaatcatagctgGggccaacctacagggctccc	10	6	12	13	1	1	1	1	0	0	1	3	3	3	1	4	4	3	2	4	4	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:137237200G>T	ENST00000453654.1	-	20	1701	c.1162C>A	c.(1162-1164)Cca>Aca	p.P388T	DGKI_ENST00000288490.5_Missense_Mutation_p.P688T|DGKI_ENST00000446122.1_Missense_Mutation_p.P688T|DGKI_ENST00000424189.2_Missense_Mutation_p.P688T			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	688	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCATAGCTGGGGCCAACCTA	0.517													40	98					6.04917e-29	1.47307e-28	1	0	T	137237200	G	T	137237200	3	4	222	1	0	0	0	0	1	0	0	0	4508	1232	43	4	1195	4	DGKI	7	137237200	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	10014142	137237200	21901463	471	40109											
DGKI	9162	broad.mit.edu	37	chr7	137271843	137271843	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccccgagagcagttcttacCcctccccagttgagagttcg	7	10	9	15	2	1	2	0	1	1	2	4	4	3	2	6	0	2	4	6	0	1	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:137271843C>A	ENST00000453654.1	-	13	1064	c.525_splice	c.e13+1	p.G175_splice	DGKI_ENST00000288490.5_Splice_Site_p.G475_splice|DGKI_ENST00000446122.1_Splice_Site_p.G475_splice|DGKI_ENST00000424189.2_Splice_Site_p.G475_splice			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	475					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CAGTTCTTACCCCTCCCCAGT	0.552													18	54					5.3912e-06	9.12394e-06	1	0	A	137271843	C	A	137271843	5	1	222	1	0	0	0	0	0	0	1	0	4508	637	22	4	1860	4	DGKI	7	137271843	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	34643	137271843	21866820	472	40110											
PARP12	64761	broad.mit.edu	37	chr7	139756947	139756947	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctcctttgttgtaatgttGgcaaatctgttgacagagag	10	15	10	6	0	2	2	0	1	2	1	3	3	2	2	1	1	0	5	1	1	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:139756947G>A	ENST00000263549.3	-	3	1342	c.469C>T	c.(469-471)Caa>Taa	p.Q157*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	157						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTGTAATGTTGGCAAATCTGT	0.498													30	76					0	0	0	0	A	139756947	G	A	139756947	4	1	222	1	0	0	0	0	0	1	0	0	11528	1357	47	4	1676	4	PARP12	7	139756947	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2485104	139756947	19381716	473	40111											
DENND2A	27147	broad.mit.edu	37	chr7	140244499	140244499	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccaggtggcggacgctgaggGaggagaagagagactcaaag	13	3	18	7	2	1	4	1	1	0	3	1	8	1	6	1	5	0	1	1	5	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:140244499G>C	ENST00000275884.6	-	13	2663	c.2246C>G	c.(2245-2247)tCc>tGc	p.S749C	DENND2A_ENST00000492720.1_Missense_Mutation_p.S749C|DENND2A_ENST00000496613.1_Missense_Mutation_p.S749C|DENND2A_ENST00000537639.1_Missense_Mutation_p.S749C			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	749	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GACGCTGAGGGAGGAGAAGAG	0.602													8	25					0	0	0	0	C	140244499	G	C	140244499	3	2	222	1	0	0	0	0	1	0	0	0	4466	1174	41	2	811	2	DENND2A	7	140244499	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	487552	140244499	18894164	474	40112											
TAS2R38	5726	broad.mit.edu	37	chr7	141673292	141673292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaacagcagtccatgcagGaaaagccggctgatgctgag	13	5	14	9	1	0	2	0	2	0	0	1	4	1	4	2	3	5	4	2	3	3	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:141673292G>T	ENST00000547270.1	-	1	281	c.198C>A	c.(196-198)ttC>ttA	p.F66L		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	66					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GTCCATGCAGGAAAAGCCGGC	0.493													37	85					2.42023e-17	5.31091e-17	1	0	T	141673292	G	T	141673292	3	4	222	1	0	0	0	0	1	0	0	0	15666	1165	41	2	807	2	TAS2R38	7	141673292	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1428793	141673292	17465371	475	40113											
TAS2R40	259286	broad.mit.edu	37	chr7	142919319	142919319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggggctgagtgggccaggGgcaaaacactccccactggt	9	6	15	11	0	0	1	0	1	0	0	1	1	1	1	3	6	1	2	3	6	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:142919319G>C	ENST00000408947.3	+	1	190	c.148G>C	c.(148-150)Ggc>Cgc	p.G50R	AC073342.1_ENST00000595842.1_Silent_p.A14A	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	50					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					GTGGGCCAGGGGCAAAACACT	0.522													23	66					0	0	0	0	C	142919319	G	C	142919319	3	2	222	1	0	0	0	0	1	0	0	0	15669	1232	43	4	150	4	TAS2R40	7	142919319	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1246027	142919319	16219344	476	40114											
OR2F1	26211	broad.mit.edu	37	chr7	143657134	143657134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccagtgactgggacactcGggtctccctgtttgtcctgt	4	13	12	12	1	1	1	0	1	1	0	5	2	3	2	3	2	0	1	3	2	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:143657134G>T	ENST00000392899.1	+	1	108	c.71G>T	c.(70-72)cGg>cTg	p.R24L		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R24L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGGGACACTCGGGTCTCCCTG	0.473													80	142					1.45978e-39	3.63642e-39	1	0	T	143657134	G	T	143657134	3	4	222	1	0	0	0	0	1	0	0	0	11067	1116	39	3	73	3	OR2F1	7	143657134	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	737815	143657134	15481529	477	40115											
OR2A5	393046	broad.mit.edu	37	chr7	143747689	143747689	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttctttctctcacacctGgccatcattgatatttcgta	8	17	4	12	1	4	1	2	1	2	0	6	1	4	1	2	1	1	1	2	1	3	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:143747689G>T	ENST00000408906.2	+	1	229	c.195G>T	c.(193-195)ctG>ctT	p.L65L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCTCACACCTGGCCATCATTG	0.488													18	77					3.52763e-06	5.99605e-06	1	0	T	143747689	G	T	143747689	2	4	222	1	0	0	0	0	0	0	0	1	11052	1335	47	4		4	OR2A5	7	143747689	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	90555	143747689	15390974	478	40116											
OR2A12	346525	broad.mit.edu	37	chr7	143793100	143793100	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagaggtgaaaggggctctAaagagagtcctttggaaaca	14	7	14	6	0	1	3	0	1	1	2	2	5	2	4	1	4	1	2	1	4	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:143793100A>G	ENST00000408949.2	+	1	960	c.900A>G	c.(898-900)ctA>ctG	p.L300L		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAGGGGCTCTAAAGAGAGTCC	0.453													68	186					0	0	0	0	G	143793100	A	G	143793100	2	3	222	1	0	0	0	0	0	0	0	1	11046	349	13	5		5	OR2A12	7	143793100	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	45411	143793100	15345563	479	40117											
OR2A14	135941	broad.mit.edu	37	chr7	143826284	143826284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcactggagattctcctcTgtggacttttctctgccttc	5	15	8	13	0	3	1	0	0	3	1	6	3	3	2	2	2	2	1	2	2	0	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:143826284T>C	ENST00000408899.2	+	1	134	c.79T>C	c.(79-81)Tgt>Cgt	p.C27R		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GATTCTCCTCTGTGGACTTTT	0.502													28	80					0	0	0	0	C	143826284	T	C	143826284	3	2	222	1	0	0	0	0	1	0	0	0	11047	1580	55	5	81	5	OR2A14	7	143826284	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	33184	143826284	15312379	480	40118											
ZNF467	168544	broad.mit.edu	37	chr7	149462862	149462862	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcactccgcgcacgggtaGggccgctcgcccgtgtgcgt	3	6	15	17	8	0	0	0	0	0	0	2	0	1	0	4	2	1	4	4	2	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:149462862G>A	ENST00000302017.3	-	5	1142	c.729C>T	c.(727-729)ccC>ccT	p.P243P	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCACGGGTAGGGCCGCTCGC	0.687													12	20					0	0	0	0	A	149462862	G	A	149462862	2	1	222	1	0	0	0	0	0	0	0	1	18022	987	35	4		4	ZNF467	7	149462862	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5636578	149462862	9675801	481	40119											
GALNTL5	168391	broad.mit.edu	37	chr7	151711783	151711783	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgctctcgagtaggacatAtcagtaagaaacaaactgga	15	8	9	9	1	2	1	1	0	1	1	3	4	2	3	1	2	3	3	1	2	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:151711783A>G	ENST00000392800.2	+	8	1335	c.1081A>G	c.(1081-1083)Atc>Gtc	p.I361V	GALNTL5_ENST00000431418.2_Missense_Mutation_p.I361V	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	361	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		AGTAGGACATATCAGTAAGAA	0.408													22	57					0	0	0	0	G	151711783	A	G	151711783	3	3	222	1	0	0	0	0	1	0	0	0	6273	449	16	5	1107	5	GALNTL5	7	151711783	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2248921	151711783	7426880	482	40120											
PTPRN2	5799	broad.mit.edu	37	chr7	157364177	157364177	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacggcccctgtagcacttgTttacttttctgaaataaaaa	13	13	6	9	1	1	1	0	1	1	0	1	1	1	1	2	1	3	3	2	1	7	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:157364177T>C	ENST00000389413.3	-	19	2808	c.2705A>G	c.(2704-2706)aAc>aGc	p.N902S	PTPRN2_ENST00000404321.2_Missense_Mutation_p.N954S|PTPRN2_ENST00000389418.4_Missense_Mutation_p.N931S|PTPRN2_ENST00000409483.1_Missense_Mutation_p.N893S|PTPRN2_ENST00000389416.4_Missense_Mutation_p.N914S	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	931	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTAGCACTTGTTTACTTTTCT	0.338													21	63					0	0	0	0	C	157364177	T	C	157364177	3	2	222	1	0	0	0	0	1	0	0	0	12890	1725	60	5	271	5	PTPRN2	7	157364177	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	5652394	157364177	1774486	483	40121											
PTPRN2	5799	broad.mit.edu	37	chr7	158334258	158334258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttcatagtaggaaagctgGcttcggttctcagcagtgaa	10	12	11	8	1	3	1	2	1	2	0	5	2	3	2	0	3	2	5	0	3	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:158334258G>A	ENST00000404321.2	-	1	40	c.41C>T	c.(40-42)gCc>gTc	p.A14V	PTPRN2_ENST00000389413.3_Intron|PTPRN2_ENST00000389418.4_Intron|PTPRN2_ENST00000409483.1_Intron|PTPRN2_ENST00000389416.4_Intron			Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	0						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGAAAGCTGGCTTCGGTTCT	0.483													33	67					0	0	0	0	A	158334258	G	A	158334258	3	1	222	1	0	0	0	0	1	0	0	0	12890	1218	42	4		4	PTPRN2	7	158334258	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	970081	158334258	804405	484	40122											
SGK223	157285	broad.mit.edu	37	chr8	8185684	8185684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggagaagacaggatggtGgcggttcccggggctcaacg	10	5	18	8	3	1	3	1	0	0	3	2	5	2	4	1	7	1	2	1	7	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:8185684G>A	ENST00000520004.1	-	5	2872	c.2608C>T	c.(2608-2610)Cac>Tac	p.H870Y	SGK223_ENST00000330777.4_Missense_Mutation_p.H870Y			Q86YV5	SG223_HUMAN		870							ATP binding|non-membrane spanning protein tyrosine kinase activity										ACAGGATGGTGGCGGTTCCCG	0.592													91	239					0	0	0	0	A	8185684	G	A	8185684	3	1	222	1	0	0	0	0	1	0	0	0	14297	1348	47	4	1608	4	SGK223	8	8185684	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08		8185684	138178338	485	40123											
MFHAS1	9258	broad.mit.edu	37	chr8	8750112	8750112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcgagagcgcccagctGggcgggcagggcgggcagct	6	3	21	11	4	0	2	0	1	0	1	0	3	0	2	1	4	4	4	1	4	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:8750112G>C	ENST00000276282.6	-	1	1043	c.457C>G	c.(457-459)Cag>Gag	p.Q153E		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	153										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GCGCCCAGCTGGGCGGGCAGG	0.692													6	13					0	0	0	0	C	8750112	G	C	8750112	3	2	222	1	0	0	0	0	1	0	0	0	9590	1357	47	4	2713	4	MFHAS1	8	8750112	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	564428	8750112	137613910	486	40124											
TNKS	8658	broad.mit.edu	37	chr8	9609323	9609323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcctccaatgcaggggatGgcgccgcgggaacagaaagg	11	3	17	10	3	0	1	0	0	0	1	1	4	1	3	3	5	3	1	3	5	3	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:9609323G>T	ENST00000310430.6	+	19	3063	c.3037G>T	c.(3037-3039)Ggc>Tgc	p.G1013C	TNKS_ENST00000518281.1_Missense_Mutation_p.G776C	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1013					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGCAGGGGATGGCGCCGCGGG	0.522													39	101					5.44703e-19	1.23698e-18	1	0	T	9609323	G	T	9609323	3	4	222	1	0	0	0	0	1	0	0	0	16413	1348	47	4	3111	4	TNKS	8	9609323	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	859211	9609323	136754699	487	40125											
RP1L1	94137	broad.mit.edu	37	chr8	10470038	10470038	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcctcactccgggcccTcggtgtcaggcggccgcctt	2	8	11	20	4	2	0	2	0	0	0	5	0	4	0	7	4	0	0	7	4	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:10470038T>A	ENST00000382483.3	-	4	1793	c.1570A>T	c.(1570-1572)Agg>Tgg	p.R524W		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	524					intracellular signal transduction					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)		CTCCGGGCCCTCGGTGTCAGG	0.697													22	67					0	0	0	0	A	10470038	T	A	10470038	3	1	222	1	0	0	0	0	1	0	0	0	13618	1550	54	5	5636	5	RP1L1	8	10470038	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	860715	10470038	135893984	488	40126											
SGCZ	137868	broad.mit.edu	37	chr8	13959967	13959967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcactcacctggaccccaCggggagcttccatgatcaag	10	6	10	15	1	2	1	2	1	0	0	3	3	3	3	4	3	2	2	4	3	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:13959967C>A	ENST00000382080.1	-	7	1377	c.662G>T	c.(661-663)cGt>cTt	p.R221L	SGCZ_ENST00000421524.2_Missense_Mutation_p.R174L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	208					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTGGACCCCACGGGGAGCTTC	0.458													16	44					2.31682e-05	3.83779e-05	1	0	A	13959967	C	A	13959967	3	1	222	1	0	0	0	0	1	0	0	0	14291	536	19	3	284	3	SGCZ	8	13959967	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3489929	13959967	132404055	489	40127											
ATP6V1B2	526	broad.mit.edu	37	chr8	20075667	20075667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttcttctctttagtatGcgtgctatgctattggaaag	7	17	9	8	1	2	0	0	0	2	0	3	1	2	1	1	1	3	3	1	1	5	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:20075667G>A	ENST00000276390.2	+	13	1310	c.1270G>A	c.(1270-1272)Gcg>Acg	p.A424T		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	424				AC -> RA (in Ref. 7; AAA35610).	ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TCTTTAGTATGCGTGCTATGC	0.438													36	84					0	0	0	0	A	20075667	G	A	20075667	3	1	222	1	0	0	0	0	1	0	0	0	1183	1319	46	4	1320	4	ATP6V1B2	8	20075667	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	6115700	20075667	126288355	490	40128											
GFRA2	2675	broad.mit.edu	37	chr8	21560483	21560483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgttgccaaaggcctggatgGcgttccctgggatgggggtg	5	9	18	9	2	0	0	0	0	0	0	1	2	1	2	3	6	1	2	3	6	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:21560483G>C	ENST00000524240.1	-	7	1702	c.1052C>G	c.(1051-1053)gCc>gGc	p.A351G	GFRA2_ENST00000517328.1_Missense_Mutation_p.A351G|GFRA2_ENST00000400782.4_Missense_Mutation_p.A246G|GFRA2_ENST00000518077.1_Missense_Mutation_p.A218G	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	351						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGCCTGGATGGCGTTCCCTGG	0.632													5	11					0	0	0	0	C	21560483	G	C	21560483	3	2	222	1	0	0	0	0	1	0	0	0	6399	1203	42	4	354	4	GFRA2	8	21560483	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1484816	21560483	124803539	491	40129											
PEBP4	157310	broad.mit.edu	37	chr8	22675246	22675246	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccaggatataggttgcGccctgtaacacatgtaccga	12	9	9	11	2	1	0	1	0	0	0	1	2	1	1	3	2	3	3	3	2	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:22675246G>T	ENST00000256404.6	-	4	352	c.261C>A	c.(259-261)ggC>ggA	p.G87G	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	87						lysosome				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		TATAGGTTGCGCCCTGTAACA	0.493													29	56					5.45727e-16	1.17768e-15	1	0	T	22675246	G	T	22675246	2	4	222	1	0	0	0	0	0	0	0	1	11785	1074	38	3		3	PEBP4	8	22675246	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1114763	22675246	123688776	492	40130											
EBF2	64641	broad.mit.edu	37	chr8	25715905	25715905	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaacacccaagttggccatGgggacattgctgtagccatt	10	9	12	10	0	0	0	0	0	0	0	0	2	0	2	3	4	3	3	3	4	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:25715905G>T	ENST00000520164.1	-	14	1995	c.1458C>A	c.(1456-1458)ccC>ccA	p.P486P	EBF2_ENST00000408929.3_Silent_p.P338P|EBF2_ENST00000535548.1_Silent_p.P217P	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	486	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGTTGGCCATGGGGACATTGC	0.522													32	59					2.85442e-18	6.35653e-18	1	0	T	25715905	G	T	25715905	2	4	222	1	0	0	0	0	0	0	0	1	4917	1335	47	4		4	EBF2	8	25715905	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3040659	25715905	120648117	493	40131											
PTK2B	2185	broad.mit.edu	37	chr8	27295006	27295006	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcatggaattgtatccctAtggggaggtgagctggagga	10	10	15	6	0	1	1	1	1	0	0	2	5	2	5	1	6	1	2	1	6	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:27295006A>G	ENST00000397501.1	+	22	2328	c.1520A>G	c.(1519-1521)tAt>tGt	p.Y507C	PTK2B_ENST00000544172.1_Missense_Mutation_p.Y507C|PTK2B_ENST00000338238.4_Missense_Mutation_p.Y507C|PTK2B_ENST00000346049.5_Missense_Mutation_p.Y507C|PTK2B_ENST00000397497.4_Missense_Mutation_p.Y253C|PTK2B_ENST00000420218.2_Missense_Mutation_p.Y507C|PTK2B_ENST00000517339.1_Missense_Mutation_p.Y507C	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	507	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TTGTATCCCTATGGGGAGGTG	0.552													12	29					0	0	0	0	G	27295006	A	G	27295006	3	3	222	1	0	0	0	0	1	0	0	0	12843	449	16	5	1582	5	PTK2B	8	27295006	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1579101	27295006	119069016	494	40132											
ESCO2	157570	broad.mit.edu	37	chr8	27641568	27641569	+	Frame_Shift_Ins	INS	-	-	A																															agtgcatcttcagtcaattcINSaaaaaggtgagaattgttat																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:27641568_27641569insA	ENST00000305188.8	+	5	1245_1246	c.1007_1008insA	c.(1006-1008)taafs	p.*336fs	ESCO2_ENST00000397418.2_Intron	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	336					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TCAGTCAATTCAAAAAGGTGAG	0.351									SC Phocomelia syndrome				12	49	---	---	---	---					A	27641569	-	A	27641568	7	5	222	1	0	1	1	0	0	0	0	0	5287	838	29	0	1021	0	ESCO2	8	27641568	Frame_Shift_Ins	INS	-	TCGA-CR-7402-01A-11D-2012-08	346562	27641568	118722454	495	40133											
UNC5D	137970	broad.mit.edu	37	chr8	35406972	35406972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatattcttcaaatgcaacgGcgagtgggtccatcagaacg	12	9	11	9	3	3	1	2	0	1	1	4	3	4	1	1	2	3	1	1	2	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:35406972G>T	ENST00000287272.2	+	2	286	c.266G>T	c.(265-267)gGc>gTc	p.G89V	UNC5D_ENST00000416672.1_Missense_Mutation_p.G89V|UNC5D_ENST00000453357.2_Missense_Mutation_p.G84V|UNC5D_ENST00000420357.1_Missense_Mutation_p.G89V|UNC5D_ENST00000404895.2_Missense_Mutation_p.G89V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	89	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAATGCAACGGCGAGTGGGTC	0.507													17	29					5.01169e-05	8.22507e-05	1	0	T	35406972	G	T	35406972	3	4	222	1	0	0	0	0	1	0	0	0	17091	1203	42	4	272	4	UNC5D	8	35406972	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	7765404	35406972	110957050	496	40134											
EIF4EBP1	1978	broad.mit.edu	37	chr8	37914654	37914654	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtcggaactcacctgtGaccaaaacacccccaaggga	13	5	10	13	1	1	1	1	1	0	0	2	4	1	3	4	2	2	0	4	2	4	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:37914654G>T	ENST00000338825.4	+	2	434	c.201G>T	c.(199-201)gtG>gtT	p.V67V	EIF4EBP1_ENST00000520657.1_3'UTR	NM_004095.3	NP_004086.1	Q13541	4EBP1_HUMAN	eukaryotic translation initiation factor 4E binding protein 1	67					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation	cytosol		p.V67V(1)		endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				ACTCACCTGTGACCAAAACAC	0.572													21	81					2.70639e-06	4.62027e-06	1	0	T	37914654	G	T	37914654	2	4	222	1	0	0	0	0	0	0	0	1	5070	1277	45	2		2	EIF4EBP1	8	37914654	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2507682	37914654	108449368	497	40135											
TM2D2	83877	broad.mit.edu	37	chr8	38853858	38853858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggtcgcattttgcgagTggctccgagacacacaatgc	9	8	12	12	4	0	1	0	0	0	1	2	3	1	1	1	2	3	2	1	2	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:38853858T>C	ENST00000456397.2	-	1	194	c.101A>G	c.(100-102)cAc>cGc	p.H34R	TM2D2_ENST00000412303.1_Intron|TM2D2_ENST00000397070.2_5'UTR|TM2D2_ENST00000456845.2_Intron|TM2D2_ENST00000522434.1_Intron	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	34						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			ATTTTGCGAGTGGCTCCGAGA	0.627													40	82					0	0	0	0	C	38853858	T	C	38853858	3	2	222	1	0	0	0	0	1	0	0	0	16058	1696	59	5	657	5	TM2D2	8	38853858	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	939204	38853858	107510164	498	40136											
PRKDC	5591	broad.mit.edu	37	chr8	48746771	48746771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttacctttcactttgttaTccacctcgtcccctggaagg	6	14	7	14	1	1	0	1	0	0	0	4	1	3	1	5	2	1	2	5	2	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:48746771T>C	ENST00000314191.2	-	60	8191	c.8135A>G	c.(8134-8136)gAt>gGt	p.D2712G	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.D2712G	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2713	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CACTTTGTTATCCACCTCGTC	0.488								Non-homologous end-joining					115	238					0	0	0	0	C	48746771	T	C	48746771	3	2	222	1	0	0	0	0	1	0	0	0	12601	1435	50	5	4360	5	PRKDC	8	48746771	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	9892913	48746771	97617251	499	40137											
PXDNL	137902	broad.mit.edu	37	chr8	52384809	52384809	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccggcaggtgaagtagacGgtatttcctgatggtacctc	8	10	13	10	2	0	3	0	2	0	1	2	3	1	3	3	4	1	4	3	4	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:52384809G>T	ENST00000356297.4	-	8	850	c.750C>A	c.(748-750)acC>acA	p.T250T	PXDNL_ENST00000543296.1_Silent_p.T250T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	250	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGAAGTAGACGGTATTTCCTG	0.428													35	93					1.67305e-13	3.38948e-13	1	0	T	52384809	G	T	52384809	2	4	222	1	0	0	0	0	0	0	0	1	12930	1103	39	3		3	PXDNL	8	52384809	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3638038	52384809	93979213	500	40138											
RP1	6101	broad.mit.edu	37	chr8	55537480	55537480	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaataaaagaggaagaaacCataaaatggacaactactgt	22	6	8	5	0	0	3	0	0	0	3	0	5	0	5	1	2	3	0	1	2	9	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:55537480C>T	ENST00000220676.1	+	4	1186	c.1038C>T	c.(1036-1038)acC>acT	p.T346T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	346					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGAAGAAACCATAAAATGGA	0.343													9	20					0	0	0	0	T	55537480	C	T	55537480	2	4	222	1	0	0	0	0	0	0	0	1	13617	581	21	4		4	RP1	8	55537480	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3152671	55537480	90826542	501	40139											
XKR4	114786	broad.mit.edu	37	chr8	56436507	56436507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccgcagtgttgtcagcgaCcgcgatcagaaattcgcaga	12	7	11	11	5	2	2	2	0	0	2	3	4	2	2	2	0	2	3	2	0	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:56436507C>A	ENST00000327381.5	+	3	1774	c.1674C>A	c.(1672-1674)gaC>gaA	p.D558E		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	558						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTGTCAGCGACCGCGATCAGA	0.592													19	56					5.35267e-07	9.35041e-07	1	0	A	56436507	C	A	56436507	3	1	222	1	0	0	0	0	1	0	0	0	17529	506	18	4	1684	4	XKR4	8	56436507	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	899027	56436507	89927515	502	40140											
TMEM68	137695	broad.mit.edu	37	chr8	56675124	56675124	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttctcaatcaataaaaTggaatggtaacacagttcca	16	12	5	8	0	3	0	2	0	2	0	5	1	4	1	1	2	1	2	1	2	7	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:56675124T>C	ENST00000521229.1	-	3	607	c.395A>G	c.(394-396)cAt>cGt	p.H132R	TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000334667.2_Intron|TMEM68_ENST00000434581.2_Intron|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000522576.1_Missense_Mutation_p.H132R			Q96MH6	TMM68_HUMAN	transmembrane protein 68	0						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			atcaaTAAAATGGAATGGTAA	0.383													15	30					0	0	0	0	C	56675124	T	C	56675124	3	2	222	1	0	0	0	0	1	0	0	0	16291	1479	51	5		5	TMEM68	8	56675124	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	238617	56675124	89688898	503	40141											
ASPH	444	broad.mit.edu	37	chr8	62566183	62566183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggctcagcctcttctggcGggactgctggctctgaagta	5	11	14	11	1	4	1	1	1	3	0	4	2	4	2	1	4	2	4	1	4	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:62566183G>A	ENST00000541428.1	-	4	432	c.272C>T	c.(271-273)cCg>cTg	p.P91L	ASPH_ENST00000517903.1_Missense_Mutation_p.P106L|ASPH_ENST00000518068.1_Missense_Mutation_p.P120L|ASPH_ENST00000445642.3_Missense_Mutation_p.P106L|ASPH_ENST00000379454.4_Missense_Mutation_p.P120L|ASPH_ENST00000517847.2_Missense_Mutation_p.P106L|ASPH_ENST00000356457.5_Missense_Mutation_p.P120L|ASPH_ENST00000522835.1_Missense_Mutation_p.P106L	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	120					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTCTTCTGGCGGGACTGCTGG	0.502													7	30					0	0	0	0	A	62566183	G	A	62566183	3	1	222	1	0	0	0	0	1	0	0	0	1057	1116	39	1	2017	1	ASPH	8	62566183	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5891059	62566183	83797839	504	40142											
MTFR1	9650	broad.mit.edu	37	chr8	66605983	66605983	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagaaggagagtgttcAgcaagactaaggttagtttg	16	9	13	3	0	1	4	1	0	0	4	1	5	1	4	0	2	1	4	0	2	6	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:66605983A>T	ENST00000262146.4	+	4	396	c.270A>T	c.(268-270)tcA>tcT	p.S90S	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.S57S	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	90						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GAGAGTGTTCAGCAAGACTAA	0.408													16	25					0	0	0	0	T	66605983	A	T	66605983	2	4	222	1	0	0	0	0	0	0	0	1	9995	175	7	5		5	MTFR1	8	66605983	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	4039800	66605983	79758039	505	40143											
PREX2	80243	broad.mit.edu	37	chr8	69002942	69002942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcaggaagtacaggcggCcaacgaaggtaagtggccct	11	5	14	11	2	0	0	0	0	0	0	0	2	0	1	3	5	3	3	3	5	5	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:69002942C>A	ENST00000288368.4	+	20	2519	c.2242C>A	c.(2242-2244)Cca>Aca	p.P748T	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	748	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTACAGGCGGCCAACGAAGGT	0.483													11	45					3.86212e-05	6.34909e-05	1	0	A	69002942	C	A	69002942	3	1	222	1	0	0	0	0	1	0	0	0	12557	739	26	4	2320	4	PREX2	8	69002942	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2396959	69002942	77361080	506	40144											
SULF1	23213	broad.mit.edu	37	chr8	70476335	70476335	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcaggaacgaaaaaacatccGacccaacattattcttgtgc	15	8	7	11	2	1	0	0	0	1	0	2	3	2	1	2	1	4	1	2	1	6	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:70476335G>C	ENST00000260128.4	+	5	842	c.125G>C	c.(124-126)cGa>cCa	p.R42P	SULF1_ENST00000458141.2_Missense_Mutation_p.R42P|SULF1_ENST00000402687.4_Missense_Mutation_p.R42P|SULF1_ENST00000419716.3_Missense_Mutation_p.R42P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	42					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAAAACATCCGACCCAACATT	0.483													28	70					0	0	0	0	C	70476335	G	C	70476335	3	2	222	1	0	0	0	0	1	0	0	0	15460	1058	37	3	127	3	SULF1	8	70476335	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1473393	70476335	75887687	507	40145											
CRISPLD1	83690	broad.mit.edu	37	chr8	75929588	75929588	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagagctgcaattcattatGgtataatagacaatgatggt	14	13	10	4	0	1	3	1	1	0	2	1	3	1	3	0	2	2	4	0	2	7	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:75929588G>C	ENST00000262207.4	+	10	1498	c.1030G>C	c.(1030-1032)Ggt>Cgt	p.G344R	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.G156R|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.G158R	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	344	LCCL 1.					extracellular region		p.G344S(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AATTCATTATGGTATAATAGA	0.343													44	62					0	0	0	0	C	75929588	G	C	75929588	3	2	222	1	0	0	0	0	1	0	0	0	3912	1348	47	4	1064	4	CRISPLD1	8	75929588	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5453253	75929588	70434434	508	40146											
ZFHX4	79776	broad.mit.edu	37	chr8	77765155	77765155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccaatttctccatcttctCcagaaacgccgcccccgcca	9	9	4	19	3	3	1	0	0	3	1	6	1	4	1	7	0	1	0	7	0	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:77765155C>A	ENST00000521891.2	+	10	6446	c.5998C>A	c.(5998-6000)Cca>Aca	p.P2000T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1955T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1955T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1974T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1955	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCATCTTCTCCAGAAACGcc	0.507										HNSCC(33;0.089)			8	18					0.000157383	0.000254867	1	0	A	77765155	C	A	77765155	3	1	222	1	0	0	0	0	1	0	0	0	17730	855	30	2	6032	2	ZFHX4	8	77765155	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1835567	77765155	68598867	509	40147											
ZFHX4	79776	broad.mit.edu	37	chr8	77775784	77775784	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttattttacacctcagctCcctggaacagtgcagggggg	8	11	11	11	0	2	0	1	0	1	0	3	1	3	1	2	4	4	2	2	4	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:77775784C>A	ENST00000521891.2	+	11	10282	c.9834C>A	c.(9832-9834)ctC>ctA	p.L3278L	ZFHX4_ENST00000455469.2_Silent_p.L3233L|ZFHX4_ENST00000050961.6_Silent_p.L3229L|ZFHX4_ENST00000518282.1_Silent_p.L3252L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3229						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCTCAGCTCCCTGGAACAG	0.517										HNSCC(33;0.089)			35	100					2.20474e-14	4.59046e-14	1	0	A	77775784	C	A	77775784	2	1	222	1	0	0	0	0	0	0	0	1	17730	842	30	2		2	ZFHX4	8	77775784	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	10629	77775784	68588238	510	40148											
ZNF704	619279	broad.mit.edu	37	chr8	81599465	81599465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggctgaccaccaacctttCttttcctgggaatgggctcg	6	12	11	12	1	1	1	0	1	1	0	3	2	2	2	4	3	1	2	4	3	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:81599465C>G	ENST00000327835.3	-	4	785	c.554G>C	c.(553-555)aGa>aCa	p.R185T	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	185						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ACCAACCTTTCTTTTCCTGGG	0.597											OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	60					0	0	0	0	G	81599465	C	G	81599465	3	3	222	1	0	0	0	0	1	0	0	0	18202	913	32	2	708	2	ZNF704	8	81599465	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3823681	81599465	64764557	511	40149											
ZNF704	619279	broad.mit.edu	37	chr8	81605276	81605276	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacttcgaaccaaagggctAgtcgacaagctggttagtac	12	8	12	9	2	0	0	0	0	0	0	2	3	0	1	1	3	3	4	1	3	6	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:81605276A>C	ENST00000327835.3	-	3	519	c.288T>G	c.(286-288)acT>acG	p.T96T	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	96						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CCAAAGGGCTAGTCGACAAGC	0.527													15	41					0	0	0	0	C	81605276	A	C	81605276	2	2	222	1	0	0	0	0	0	0	0	1	18202	407	15	5		5	ZNF704	8	81605276	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	5811	81605276	64758746	512	40150											
ATP6V0D2	245972	broad.mit.edu	37	chr8	87165148	87165148	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaaatattgtgtggatagCagaatgtatttcacagaggc	14	12	11	4	0	1	3	1	0	0	3	1	4	1	4	0	2	1	2	0	2	6	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:87165148C>A	ENST00000285393.3	+	8	1137	c.995C>A	c.(994-996)gCa>gAa	p.A332E	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	332					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GTGTGGATAGCAGAATGTATT	0.333													15	40					1.49906e-05	2.50014e-05	1	0	A	87165148	C	A	87165148	3	1	222	1	0	0	0	0	1	0	0	0	1178	710	25	4	1025	4	ATP6V0D2	8	87165148	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	5559872	87165148	59198874	513	40151											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885723	88885723	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctatgaacagcgacgctggGagcagcacggcacagcttgg	10	5	14	12	3	0	1	0	1	0	0	0	3	0	2	1	3	5	5	1	3	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:88885723G>T	ENST00000319675.3	-	1	573	c.477C>A	c.(475-477)ctC>ctA	p.L159L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	159								p.L159L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCGACGCTGGGAGCAGCACGG	0.562													26	61					1.37878e-21	3.22873e-21	1	0	T	88885723	G	T	88885723	2	4	222	1	0	0	0	0	0	0	0	1	4305	1161	41	2		2	DCAF4L2	8	88885723	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1720575	88885723	57478299	514	40152											
NECAB1	64168	broad.mit.edu	37	chr8	91929810	91929810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtctctccagaattccCtggaatgtgccatggaaact	10	11	9	11	0	1	1	0	0	1	1	4	3	3	3	3	2	3	1	3	2	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:91929810C>A	ENST00000417640.2	+	6	785	c.448C>A	c.(448-450)Ctg>Atg	p.L150M		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	150					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CCAGAATTCCCTGGAATGTGC	0.403													19	33					0.00152264	0.00242554	1	0	A	91929810	C	A	91929810	3	1	222	1	0	0	0	0	1	0	0	0	10374	680	24	4	470	4	NECAB1	8	91929810	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3044087	91929810	54434212	515	40153											
CDH17	1015	broad.mit.edu	37	chr8	95161033	95161033	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctctgtccaatggagcCacactaaagatctcaccagt	11	10	7	13	0	2	1	1	0	2	1	5	2	3	2	3	1	1	1	3	1	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:95161033C>T	ENST00000027335.3	-	14	1990	c.1866G>A	c.(1864-1866)gtG>gtA	p.V622V	CDH17_ENST00000441892.2_Silent_p.V408V|CDH17_ENST00000450165.2_Silent_p.V622V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	622	Cadherin 6.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCAATGGAGCCACACTAAAGA	0.418													8	19					0	0	0	0	T	95161033	C	T	95161033	2	4	222	1	0	0	0	0	0	0	0	1	3131	581	21	4		4	CDH17	8	95161033	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3231223	95161033	51202989	516	40154											
KIAA1429	25962	broad.mit.edu	37	chr8	95543280	95543280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgtggtcttggagggCttccattaaactgatcttct	6	16	11	8	0	3	1	0	1	3	0	4	2	4	2	1	4	1	2	1	4	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:95543280C>A	ENST00000297591.5	-	6	593	c.518G>T	c.(517-519)aGc>aTc	p.S173I	KIAA1429_ENST00000437199.1_Missense_Mutation_p.S173I|KIAA1429_ENST00000421249.2_Missense_Mutation_p.S173I	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	173	Pro-rich.				mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCTTGGAGGGCTTCCATTAAA	0.463													11	46					1.08611e-07	1.93009e-07	1	0	A	95543280	C	A	95543280	3	1	222	1	0	0	0	0	1	0	0	0	8282	797	28	4	5050	4	KIAA1429	8	95543280	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	382247	95543280	50820742	517	40155											
MTDH	92140	broad.mit.edu	37	chr8	98731417	98731417	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtactcgtcaaaaatagccaGgtaatttttaagaataataa	18	12	6	5	1	1	1	1	0	0	1	2	1	1	1	1	1	2	2	1	1	9	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:98731417G>T	ENST00000336273.3	+	10	1849	c.1521_splice	c.e10+1	p.Q507_splice	MTDH_ENST00000519934.1_Splice_Site_p.Q451_splice	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	507					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AAAATAGCCAGGTAATTTTTA	0.458													24	54					1.5548e-18	3.47826e-18	1	0	T	98731417	G	T	98731417	5	4	222	1	0	0	0	0	0	0	1	0	9987	1014	35	4	1559	4	MTDH	8	98731417	Splice_Site	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3188137	98731417	47632605	518	40156											
STK3	6788	broad.mit.edu	37	chr8	99779536	99779536	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatctgattcaacaggtacTtgtttaattgcgacaacttg	12	14	8	7	1	2	2	1	1	1	1	2	3	2	2	0	1	4	2	0	1	4	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:99779536T>A	ENST00000523601.1	-	5	654	c.255A>T	c.(253-255)caA>caT	p.Q85H	STK3_ENST00000419617.2_Missense_Mutation_p.Q57H	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	57	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		CAACAGGTACTTGTTTAATTG	0.328													15	37					0	0	0	0	A	99779536	T	A	99779536	3	1	222	1	0	0	0	0	1	0	0	0	15385	1606	56	5	1340	5	STK3	8	99779536	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1048119	99779536	46584486	519	40157											
GRHL2	79977	broad.mit.edu	37	chr8	102656368	102656368	+	Silent	SNP	C	C	G																															atcttttctagtggcagtgtCcttgttaaacggatgttccg																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:102656368C>G	ENST00000251808.3	+	13	1865	c.1527C>G	c.(1525-1527)gtC>gtG	p.V509V	GRHL2_ENST00000395927.1_Silent_p.V493V|GRHL2_ENST00000517674.1_3'UTR	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	509						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GTGGCAGTGTCCTTGTTAAAC	0.463													8	25					0	0	0	0	G	102656368	C	G	102656368	2	3	222	1	0	0	0	0	0	0	0	1	6814	842	30	2		2	GRHL2	8	102656368	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2876832	102656368	43707654	520	40158	302	2									
GRHL2	79977	broad.mit.edu	37	chr8	102656369	102656369	+	Missense_Mutation	SNP	C	C	T																															tcttttctagtggcagtgtcCttgttaaacggatgttccgg																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:102656369C>T	ENST00000251808.3	+	13	1866	c.1528C>T	c.(1528-1530)Ctt>Ttt	p.L510F	GRHL2_ENST00000395927.1_Missense_Mutation_p.L494F|GRHL2_ENST00000517674.1_3'UTR	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	510						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGGCAGTGTCCTTGTTAAACG	0.463													8	22					0	0	0	0	T	102656369	C	T	102656369	3	4	222	1	0	0	0	0	1	0	0	0	6814	681	24	4	1578	4	GRHL2	8	102656369	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1	102656369	43707653	521	40159	302	2									
ATP6V1C1	528	broad.mit.edu	37	chr8	104068161	104068161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggtagttccaaggtctaGcaagtaagtagaagtctttg	13	12	11	5	0	2	1	0	0	2	1	3	1	3	1	1	2	1	5	1	2	8	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:104068161G>A	ENST00000395862.3	+	8	797	c.638G>A	c.(637-639)aGc>aAc	p.S213N	ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.S138N|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.S213N|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.S138N	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	213					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CCAAGGTCTAGCAAGTAAGTA	0.373													9	30					0	0	0	0	A	104068161	G	A	104068161	3	1	222	1	0	0	0	0	1	0	0	0	1184	971	34	4	664	4	ATP6V1C1	8	104068161	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1411792	104068161	42295861	522	40160											
RIMS2	9699	broad.mit.edu	37	chr8	104898151	104898151	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccccaggaggagtccactaCccatagatagaccagacttg	12	6	9	14	0	0	3	0	0	0	3	1	5	1	5	5	2	1	0	5	2	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:104898151C>G	ENST00000507740.1	+	2	984	c.748C>G	c.(748-750)Ccc>Gcc	p.P250A	RIMS2_ENST00000406091.3_Missense_Mutation_p.P442A|RIMS2_ENST00000262231.10_Missense_Mutation_p.P250A|RIMS2_ENST00000436393.2_Missense_Mutation_p.P220A	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	473					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAGTCCACTACCCATAGATAG	0.463										HNSCC(12;0.0054)			10	44					0	0	0	0	G	104898151	C	G	104898151	3	3	222	1	0	0	0	0	1	0	0	0	13453	507	18	4	1464	4	RIMS2	8	104898151	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	829990	104898151	41465871	523	40161											
RIMS2	9699	broad.mit.edu	37	chr8	105027684	105027684	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagatagaaccttatgaaGgtctgtacataaaagagggt	16	9	12	4	0	1	4	0	1	1	3	1	5	1	4	1	3	2	1	1	3	7	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:105027684G>A	ENST00000436393.2	+	18	2828	c.2587_splice	c.e18+1	p.E863_splice	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	323	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACCTTATGAAGGTCTGTACAT	0.363										HNSCC(12;0.0054)			4	5					0	0	0	0	A	105027684	G	A	105027684	5	1	222	1	0	0	0	0	0	0	1	0	13453	1015	35	4		4	RIMS2	8	105027684	Splice_Site	SNP	G	TCGA-CR-7402-01A-11D-2012-08	129533	105027684	41336338	524	40162											
KCNV1	27012	broad.mit.edu	37	chr8	110980754	110980754	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttgaaaatatagagattcCcacggatagaaataggagca	18	8	10	5	1	0	3	0	1	0	2	1	6	1	5	1	2	1	2	1	2	7	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:110980754C>A	ENST00000524391.1	-	4	2098	c.1066G>T	c.(1066-1068)Gga>Tga	p.G356*	KCNV1_ENST00000297404.1_Nonsense_Mutation_p.G356*			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	356						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATAGAGATTCCCACGGATAGA	0.478													35	53					2.80507e-11	5.44563e-11	1	0	A	110980754	C	A	110980754	4	1	222	1	0	0	0	0	0	1	0	0	8147	632	22	4	440	4	KCNV1	8	110980754	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	5953070	110980754	35383268	525	40163											
CSMD3	114788	broad.mit.edu	37	chr8	113246700	113246700	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgagcttcctggcttttaTatacccctgtaaaatgcaag	10	12	9	10	1	0	0	0	0	0	0	1	1	1	0	3	2	3	4	3	2	6	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:113246700T>C	ENST00000297405.5	-	68	10878	c.10634A>G	c.(10633-10635)tAt>tGt	p.Y3545C	CSMD3_ENST00000352409.3_Missense_Mutation_p.Y3475C|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y3505C|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y3376C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3545						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGGCTTTTATATACCCCTGT	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	82					0	0	0	0	C	113246700	T	C	113246700	3	2	222	1	0	0	0	0	1	0	0	0	3978	1406	49	5	505	5	CSMD3	8	113246700	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2265946	113246700	33117322	526	40164											
CSMD3	114788	broad.mit.edu	37	chr8	113256746	113256746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatacccatgagatggaaGgtccatccctacgacatttg	11	11	9	10	1	0	1	0	1	0	1	2	4	2	2	3	2	2	1	3	2	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:113256746G>T	ENST00000297405.5	-	65	10523	c.10279C>A	c.(10279-10281)Ctt>Att	p.L3427I	CSMD3_ENST00000352409.3_Missense_Mutation_p.L3357I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3387I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L3258I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3427	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAGATGGAAGGTCCATCCCT	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	50					0.000308642	0.000496113	1	0	T	113256746	G	T	113256746	3	4	222	1	0	0	0	0	1	0	0	0	3978	1000	35	4	872	4	CSMD3	8	113256746	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	10046	113256746	33107276	527	40165											
CSMD3	114788	broad.mit.edu	37	chr8	113418923	113418923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaatcttggttcaggcacaGaactgcattgtgtagaactt	11	12	10	8	1	2	2	1	0	1	2	2	3	2	2	0	2	3	4	0	2	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:113418923G>A	ENST00000297405.5	-	35	5883	c.5639C>T	c.(5638-5640)tCt>tTt	p.S1880F	CSMD3_ENST00000352409.3_Missense_Mutation_p.S1810F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1840F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1776F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1880	Sushi 10.					integral to membrane|plasma membrane		p.S1880Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCAGGCACAGAACTGCATTG	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	48					0	0	0	0	A	113418923	G	A	113418923	3	1	222	1	0	0	0	0	1	0	0	0	3978	942	33	2	5632	2	CSMD3	8	113418923	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	162177	113418923	32945099	528	40166											
ADCY8	114	broad.mit.edu	37	chr8	131861992	131861992	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcctctgctgtggtgatgagGaccagagccgagtgcagcat	8	9	14	10	1	1	3	0	2	1	1	2	5	2	4	3	2	4	3	3	2	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:131861992G>C	ENST00000286355.5	-	10	4360	c.2268C>G	c.(2266-2268)gtC>gtG	p.V756V	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	756					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGTGATGAGGACCAGAGCCG	0.473										HNSCC(32;0.087)			3	11					0	0	0	0	C	131861992	G	C	131861992	2	2	222	1	0	0	0	0	0	0	0	1	300	1161	41	2		2	ADCY8	8	131861992	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	18443069	131861992	14502030	529	40167											
PHF20L1	51105	broad.mit.edu	37	chr8	133816972	133816972	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggcaaagagagctcgactTaacaagattactggtaaact	16	8	9	8	1	0	2	0	0	0	2	1	4	0	2	0	2	4	3	0	2	6	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:133816972T>G	ENST00000395386.2	+	8	1133	c.834T>G	c.(832-834)ctT>ctG	p.L278L	PHF20L1_ENST00000315808.10_Silent_p.L278L|PHF20L1_ENST00000395374.1_Silent_p.L117L|PHF20L1_ENST00000395383.1_Silent_p.L282L|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395379.1_Silent_p.L278L|PHF20L1_ENST00000337920.4_Silent_p.L252L|PHF20L1_ENST00000395382.3_Silent_p.L148L|PHF20L1_ENST00000395376.1_Silent_p.L283L|PHF20L1_ENST00000395390.2_Silent_p.L253L	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	278							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GAGCTCGACTTAACAAGATTA	0.343													20	52					0	0	0	0	G	133816972	T	G	133816972	2	3	222	1	0	0	0	0	0	0	0	1	11904	1741	61	5		5	PHF20L1	8	133816972	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1954980	133816972	12547050	530	40168											
TG	7038	broad.mit.edu	37	chr8	133899673	133899673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccaccttgtttgtccctGcttgtactagtgagggacat	6	14	10	11	0	0	1	0	1	0	0	2	2	2	2	3	1	2	4	3	1	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:133899673G>T	ENST00000220616.4	+	9	2096	c.2056G>T	c.(2056-2058)Gct>Tct	p.A686S	TG_ENST00000377869.1_Missense_Mutation_p.A686S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	686	Thyroglobulin type-1 6.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTTGTCCCTGCTTGTACTAG	0.557													21	46					1.01871e-10	1.95245e-10	1	0	T	133899673	G	T	133899673	3	4	222	1	0	0	0	0	1	0	0	0	15907	1319	46	4	2090	4	TG	8	133899673	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	82701	133899673	12464349	531	40169											
SLA	6503	broad.mit.edu	37	chr8	134050883	134050883	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgttgtcctcactggtCagggacaggtaagaggcaat	10	9	15	7	0	2	1	2	0	0	1	3	3	3	2	1	5	0	3	1	5	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:134050883C>A	ENST00000338087.5	-	9	1536	c.717G>T	c.(715-717)ctG>ctT	p.L239L	TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000427060.2_Silent_p.L279L|SLA_ENST00000395352.3_Silent_p.L256L|SLA_ENST00000517648.1_Silent_p.L212L|TG_ENST00000519543.1_Intron|SLA_ENST00000524345.1_Silent_p.L131L|TG_ENST00000220616.4_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	239	SLA C-terminal.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CCTCACTGGTCAGGGACAGGT	0.522													37	75					8.73648e-17	1.90004e-16	1	0	A	134050883	C	A	134050883	2	1	222	1	0	0	0	0	0	0	0	1	14451	813	29	2		2	SLA	8	134050883	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	151210	134050883	12313139	532	40170											
CPSF1	29894	broad.mit.edu	37	chr8	145626066	145626066	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccttagggggctcaccCaggccaggtctggttgggct	4	9	15	13	0	2	0	1	0	1	0	3	0	3	0	4	6	0	3	4	6	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:145626066C>T	ENST00000349769.3	-	7	779	c.686_splice	c.e7+1	p.G229_splice		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	229					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGGGCTCACCCAGGCCAGGTC	0.637													8	19					0	0	0	0	T	145626066	C	T	145626066	5	4	222	1	0	0	0	0	0	0	1	0	3854	608	21	4	3774	4	CPSF1	8	145626066	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	11575183	145626066	737956	533	40171											
KIAA1432	57589	broad.mit.edu	37	chr9	5757415	5757415	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcactctgacatcagtgagTacagagaatggaatcacctt	13	10	9	9	0	4	3	3	2	1	1	4	5	4	4	1	1	1	1	1	1	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:5757415T>C	ENST00000414202.2	+	17	2147	c.1956T>C	c.(1954-1956)agT>agC	p.S652S	KIAA1432_ENST00000418622.3_Silent_p.S573S|KIAA1432_ENST00000251879.6_Silent_p.S652S|KIAA1432_ENST00000381532.2_Silent_p.S573S|KIAA1432_ENST00000449720.2_Silent_p.S536S	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	652						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CATCAGTGAGTACAGAGAATG	0.413													36	102					0	0	0	0	C	5757415	T	C	5757415	2	2	222	1	0	0	0	0	0	0	0	1	8284	1635	57	5		5	KIAA1432	9	5757415	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08		5757415	135456016	534	40172											
KDM4C	23081	broad.mit.edu	37	chr9	6984211	6984211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggcctaaggctgatgaGgaagaggaagtgtcagatga	16	6	15	4	0	1	5	1	3	0	2	1	7	1	7	1	4	0	1	1	4	5	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:6984211G>T	ENST00000381309.3	+	10	1726	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D	KDM4C_ENST00000536108.1_Missense_Mutation_p.E206D|KDM4C_ENST00000442236.2_Missense_Mutation_p.E206D|KDM4C_ENST00000428870.2_Missense_Mutation_p.E74D|KDM4C_ENST00000535193.1_Missense_Mutation_p.E409D|KDM4C_ENST00000381306.3_Missense_Mutation_p.E387D|KDM4C_ENST00000543771.1_Missense_Mutation_p.E387D	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	387					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGGCTGATGAGGAAGAGGAAG	0.498													21	51					2.37509e-13	4.78695e-13	1	0	T	6984211	G	T	6984211	3	4	222	1	0	0	0	0	1	0	0	0	8183	991	35	4	1265	4	KDM4C	9	6984211	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1226796	6984211	134229220	535	40173											
PTPRD	5789	broad.mit.edu	37	chr9	8460478	8460478	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcaaggacaggacctacaaCccagatcaagccttcttctt	12	9	7	13	0	3	1	1	0	2	1	3	3	3	3	3	2	4	1	3	2	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:8460478C>G	ENST00000381196.4	-	30	4351	c.3808G>C	c.(3808-3810)Gtt>Ctt	p.V1270L	PTPRD_ENST00000540109.1_Missense_Mutation_p.V1270L|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1257L|PTPRD_ENST00000486161.1_Missense_Mutation_p.V859L|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1270L|PTPRD_ENST00000355233.5_Missense_Mutation_p.V859L|PTPRD_ENST00000397606.3_Missense_Mutation_p.V849L|PTPRD_ENST00000397611.3_Missense_Mutation_p.V856L|PTPRD_ENST00000537002.1_Missense_Mutation_p.V856L|PTPRD_ENST00000397617.3_Missense_Mutation_p.V849L|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1248L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1270					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGACCTACAACCCAGATCAAG	0.448										TSP Lung(15;0.13)			19	51					0	0	0	0	G	8460478	C	G	8460478	3	3	222	1	0	0	0	0	1	0	0	0	12881	507	18	4	2051	4	PTPRD	9	8460478	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1476267	8460478	132752953	536	40174											
BNC2	54796	broad.mit.edu	37	chr9	16437135	16437135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgaaaggctgggttcccGcagcctcaaccctggttgct	7	10	12	12	1	1	1	1	1	0	0	2	1	2	1	3	3	3	6	3	3	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:16437135G>A	ENST00000380672.4	-	6	1114	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	BNC2_ENST00000545497.1_Missense_Mutation_p.R258W|BNC2_ENST00000380667.2_Missense_Mutation_p.R286W|BNC2_ENST00000380666.2_Missense_Mutation_p.R353W	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.R353W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTGGGTTCCCGCAGCCTCAAC	0.468													30	101					0	0	0	0	A	16437135	G	A	16437135	3	1	222	1	0	0	0	0	1	0	0	0	1480	1086	38	1	2250	1	BNC2	9	16437135	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	7976657	16437135	124776296	537	40175											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18889647	18889647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagccccgcttgaggtGcctgctgaacagcacggagg	8	6	14	13	2	1	2	1	2	0	0	1	3	1	3	3	3	6	4	3	3	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:18889647G>A	ENST00000380548.4	+	25	4883	c.4544G>A	c.(4543-4545)tGc>tAc	p.C1515Y	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.C216Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1515						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCTTGAGGTGCCTGCTGAAC	0.642													8	20					0	0	0	0	A	18889647	G	A	18889647	3	1	222	1	0	0	0	0	1	0	0	0	274	1319	46	4	4646	4	ADAMTSL1	9	18889647	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2452512	18889647	122323784	538	40176											
PLAA	9373	broad.mit.edu	37	chr9	26905641	26905641	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatttgaatcatcactgatAagtgttccaagagccacaag	14	10	8	9	0	2	3	2	2	0	1	3	3	3	3	2	0	1	2	2	0	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:26905641A>G	ENST00000397292.3	-	14	2673	c.2256T>C	c.(2254-2256)ctT>ctC	p.L752L		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	752	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CATCACTGATAAGTGTTCCAA	0.373													18	53					0	0	0	0	G	26905641	A	G	26905641	2	3	222	1	0	0	0	0	0	0	0	1	12083	349	13	5		5	PLAA	9	26905641	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	8015994	26905641	114307790	539	40177											
PRSS3	5646	broad.mit.edu	37	chr9	33799064	33799064	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtggtctgcaacggacagctCcaaggagttgtctcctgggg	7	9	15	10	1	2	0	0	0	2	0	4	2	3	2	2	5	3	3	2	5	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:33799064C>G	ENST00000361005.5	+	5	801	c.801C>G	c.(799-801)ctC>ctG	p.L267L	PRSS3_ENST00000429677.3_Silent_p.L203L|PRSS3_ENST00000342836.4_Silent_p.L224L|PRSS3_ENST00000495682.1_3'UTR|PRSS3_ENST00000379405.3_Silent_p.L210L|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	267	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			ACGGACAGCTCCAAGGAGTTG	0.522													34	100					0	0	0	0	G	33799064	C	G	33799064	2	3	222	1	0	0	0	0	0	0	0	1	12701	842	30	2		2	PRSS3	9	33799064	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	6893423	33799064	107414367	540	40178											
UBAP2	55833	broad.mit.edu	37	chr9	33956140	33956140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaagacctttgtttcaGaaagctgtatggaaagttga	13	12	11	5	0	1	4	1	2	0	2	1	5	1	5	1	1	1	4	1	1	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:33956140G>T	ENST00000379238.1	-	11	920	c.803C>A	c.(802-804)tCt>tAt	p.S268Y	UBAP2_ENST00000418786.2_Missense_Mutation_p.S215Y|UBAP2_ENST00000360802.1_Missense_Mutation_p.S268Y|UBAP2_ENST00000539807.1_Missense_Mutation_p.S23Y|UBAP2_ENST00000449054.1_Missense_Mutation_p.S268Y|UBAP2_ENST00000379239.4_Intron			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	268										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTTTGTTTCAGAAAGCTGTAT	0.353													22	59					2.89027e-11	5.5888e-11	1	0	T	33956140	G	T	33956140	3	4	222	1	0	0	0	0	1	0	0	0	16933	942	33	2	2632	2	UBAP2	9	33956140	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	157076	33956140	107257291	541	40179											
C9orf131	138724	broad.mit.edu	37	chr9	35044685	35044686	+	Frame_Shift_Ins	INS	-	-	C																															ctgggccactgagctcccagINScccccagctcactctctact																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:35044685_35044686insC	ENST00000312292.5	+	2	2106_2107	c.2059_2060insC	c.(2059-2061)cccfs	p.P687fs	C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.P639fs|C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.P614fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	687										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGAGCTCCCAGCCCCCAGCTCA	0.54													17	55	---	---	---	---					C	35044686	-	C	35044685	7	5	222	1	0	1	1	0	0	0	0	0	2482	971	34	0	2081	0	C9orf131	9	35044685	Frame_Shift_Ins	INS	-	TCGA-CR-7402-01A-11D-2012-08	1088545	35044685	106168746	542	40180											
VCP	7415	broad.mit.edu	37	chr9	35061050	35061050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aactgctagagagttcatgaCctcggcatcaatggtctcat	11	11	9	10	1	3	2	3	1	1	1	5	3	3	2	1	2	2	3	1	2	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:35061050C>A	ENST00000358901.6	-	11	2216	c.1321G>T	c.(1321-1323)Gtc>Ttc	p.V441F		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	441					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAGTTCATGACCTCGGCATCA	0.527													54	181					1.54886e-18	3.47693e-18	1	0	A	35061050	C	A	35061050	3	1	222	1	0	0	0	0	1	0	0	0	17236	507	18	4	1127	4	VCP	9	35061050	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	16365	35061050	106152381	543	40181											
RUSC2	9853	broad.mit.edu	37	chr9	35557972	35557972	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcattttggcacaagccgGgatcccggggtgaaggtagg	8	8	16	9	2	1	1	1	1	0	0	2	2	2	2	2	6	1	3	2	6	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:35557972G>T	ENST00000455600.1	+	6	3614	c.3045G>T	c.(3043-3045)cgG>cgT	p.R1015R		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1015						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCACAAGCCGGGATCCCGGGG	0.557													24	73					3.80469e-20	8.74184e-20	1	0	T	35557972	G	T	35557972	2	4	222	1	0	0	0	0	0	0	0	1	13836	1219	43	4		4	RUSC2	9	35557972	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	496922	35557972	105655459	544	40182											
TESK1	7016	broad.mit.edu	37	chr9	35609311	35609311	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctccagggccagcgcccCagctgcctctggctgtggcc	5	6	12	18	1	1	0	0	0	1	0	2	0	2	0	7	3	4	2	7	3	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:35609311C>T	ENST00000336395.5	+	10	1703	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	485					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCAGCGCCCCAGCTGCCTCT	0.647													23	59					0	0	0	0	T	35609311	C	T	35609311	4	4	222	1	0	0	0	0	0	1	0	0	15861	595	21	4	1491	4	TESK1	9	35609311	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	51339	35609311	105604120	545	40183											
SPAG8	26206	broad.mit.edu	37	chr9	35809452	35809452	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcctgtaaacccccattCtttccaagtcagatagtctt	10	13	5	13	0	3	1	1	0	2	1	5	2	5	1	4	0	1	1	4	0	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:35809452C>A	ENST00000340291.2	-	7	1445	c.1321G>T	c.(1321-1323)Gaa>Taa	p.E441*	NPR2_ENST00000342694.2_3'UTR	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	0						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			AACCCCCATTCTTTCCAAGTC	0.493													99	244					3.37413e-40	8.41593e-40	1	0	A	35809452	C	A	35809452	4	1	222	1	0	0	0	0	0	1	0	0	15074	922	32	2	192	2	SPAG8	9	35809452	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	200141	35809452	105403979	546	40184											
PAX5	5079	broad.mit.edu	37	chr9	36846845	36846845	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccagtactcaccaagcAgccccgggttggggaacctc	8	6	11	16	2	1	0	1	0	0	0	3	1	2	1	6	3	4	3	6	3	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:36846845A>T	ENST00000358127.4	-	9	1168	c.1094T>A	c.(1093-1095)cTg>cAg	p.L365Q	PAX5_ENST00000377852.2_Missense_Mutation_p.L331Q|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000523241.1_Missense_Mutation_p.C288S|PAX5_ENST00000414447.1_Missense_Mutation_p.L322Q|PAX5_ENST00000446742.1_Missense_Mutation_p.L265Q|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000377853.2_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.L257Q|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000520281.1_Intron	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	365					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(11)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CTCACCAAGCAGCCCCGGGTT	0.632			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								9	23					0	0	0	0	T	36846845	A	T	36846845	3	4	222	1	0	0	0	0	1	0	0	0	11553	188	7	5	89	5	PAX5	9	36846845	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1037393	36846845	104366586	547	40185											
FBXO10	26267	broad.mit.edu	37	chr9	37531943	37531943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actttttccggatgtctacaCcagcctctgcattgtggtaa	8	14	8	11	1	2	0	0	0	2	0	3	1	3	1	3	2	3	2	3	2	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:37531943C>G	ENST00000432825.2	-	4	1580	c.1532G>C	c.(1531-1533)gGt>gCt	p.G511A	FBXO10_ENST00000543968.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.G36A|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	511						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GATGTCTACACCAGCCTCTGC	0.493													12	42					0	0	0	0	G	37531943	C	G	37531943	3	3	222	1	0	0	0	0	1	0	0	0	5771	507	18	4	1370	4	FBXO10	9	37531943	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	685098	37531943	103681488	548	40186											
FRMPD1	22844	broad.mit.edu	37	chr9	37745967	37745967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgccagtctcagggtggCcacatctttgggttttgcag	5	13	12	11	0	3	0	1	0	3	0	4	0	3	0	2	3	2	2	2	3	0	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:37745967C>A	ENST00000539465.1	+	16	4531	c.3938C>A	c.(3937-3939)gCc>gAc	p.A1313D	FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1313D|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1313						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCAGGGTGGCCACATCTTTG	0.532													33	91					1.08312e-15	2.31184e-15	1	0	A	37745967	C	A	37745967	3	1	222	1	0	0	0	0	1	0	0	0	6105	739	26	4	3996	4	FRMPD1	9	37745967	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	214024	37745967	103467464	549	40187											
TJP2	9414	broad.mit.edu	37	chr9	71835869	71835869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctcccctggatcaggatGaccgggcttttgaggtgatg	6	10	14	11	1	1	3	1	3	0	0	2	5	2	5	4	4	0	1	4	4	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:71835869G>A	ENST00000377245.4	+	5	617	c.409G>A	c.(409-411)Gac>Aac	p.D137N	TJP2_ENST00000535702.1_Missense_Mutation_p.D141N|TJP2_ENST00000539225.1_Missense_Mutation_p.D168N|TJP2_ENST00000265384.7_Missense_Mutation_p.D137N|TJP2_ENST00000348208.4_Missense_Mutation_p.D137N|TJP2_ENST00000453658.2_Missense_Mutation_p.D114N	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	137					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGATCAGGATGACCGGGCTTT	0.612													7	22					0	0	0	0	A	71835869	G	A	71835869	3	1	222	1	0	0	0	0	1	0	0	0	16024	1290	45	2	584	2	TJP2	9	71835869	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	34089902	71835869	69377562	550	40188											
TRPM3	80036	broad.mit.edu	37	chr9	73240414	73240414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaccttaaaatagatccaaCcgaaacctggatactctcgc	14	9	5	13	2	2	1	1	0	1	1	4	3	3	2	4	1	3	0	4	1	6	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:73240414C>A	ENST00000377105.1	-	13	1547	c.1193G>T	c.(1192-1194)gGt>gTt	p.G398V	TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000358082.3_Intron|TRPM3_ENST00000396292.4_Intron|TRPM3_ENST00000357533.2_Missense_Mutation_p.G553V|TRPM3_ENST00000360823.2_Intron|TRPM3_ENST00000377106.1_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000408909.2_Missense_Mutation_p.G398V|TRPM3_ENST00000377110.2_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.G398V|TRPM3_ENST00000377111.2_Intron	NM_024971.5|NM_206945.3	NP_079247.5|NP_996828.3	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	569						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATAGATCCAACCGAAACCTGG	0.284													13	28					2.32078e-09	4.3249e-09	1	0	A	73240414	C	A	73240414	3	1	222	1	0	0	0	0	1	0	0	0	16682	507	18	4	3563	4	TRPM3	9	73240414	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1404545	73240414	67973017	551	40189											
RORB	6096	broad.mit.edu	37	chr9	77282809	77282809	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttctcatctgctgttctgaTatctccaggtagggcagtct	6	15	10	10	0	5	1	1	1	5	0	7	1	5	1	1	2	1	5	1	2	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:77282809T>A	ENST00000376896.2	+	8	1715	c.1103T>A	c.(1102-1104)aTa>aAa	p.I368K	RORB_ENST00000396204.2_Missense_Mutation_p.I379K	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	379	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGTTCTGATATCTCCAGGT	0.413													12	56					0	0	0	0	A	77282809	T	A	77282809	3	1	222	1	0	0	0	0	1	0	0	0	13614	1406	49	5	1133	5	RORB	9	77282809	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	4042395	77282809	63930622	552	40190											
FOXB2	442425	broad.mit.edu	37	chr9	79635323	79635323	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctacgggctgggctcGgccgccgccgctgccgccgc	2	4	14	21	7	0	0	0	0	0	0	1	0	0	0	7	3	2	3	7	3	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:79635323G>T	ENST00000376708.1	+	1	753	c.753G>T	c.(751-753)tcG>tcT	p.S251S		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	251					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						GGCTGGGCTCGgccgccgccg	0.746													7	17					2.7689e-08	5.01638e-08	1	0	T	79635323	G	T	79635323	2	4	222	1	0	0	0	0	0	0	0	1	6038	1103	39	3		3	FOXB2	9	79635323	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2352514	79635323	61578108	553	40191											
NOL8	55035	broad.mit.edu	37	chr9	95076834	95076834	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctgtctttgtcaaagccTatgttgtgagtctttgcact	7	16	9	9	0	3	1	1	1	2	0	3	1	3	1	1	0	3	3	1	0	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:95076834T>C	ENST00000545558.1	-	7	2565	c.2073A>G	c.(2071-2073)atA>atG	p.I691M	NOL8_ENST00000535387.1_Missense_Mutation_p.I691M|NOL8_ENST00000542053.1_Missense_Mutation_p.I623M|NOL8_ENST00000358855.4_Missense_Mutation_p.I623M|NOL8_ENST00000442668.2_Missense_Mutation_p.I691M			Q76FK4	NOL8_HUMAN	nucleolar protein 8	691					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGTCAAAGCCTATGTTGTGAG	0.438													7	52					0	0	0	0	C	95076834	T	C	95076834	3	2	222	1	0	0	0	0	1	0	0	0	10597	1512	53	5	1474	5	NOL8	9	95076834	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	15441511	95076834	46136597	554	40192											
SUSD3	203328	broad.mit.edu	37	chr9	95846964	95846964	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatggcaaaccccagacagCccctgcctgcctctgggctg	8	6	10	17	0	1	1	0	0	1	1	1	1	1	1	6	2	4	2	6	2	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:95846964C>G	ENST00000375472.3	+	5	739	c.703C>G	c.(703-705)Ccc>Gcc	p.P235A	SUSD3_ENST00000375469.1_Missense_Mutation_p.P222A	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	235						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CCCCAGACAGCCCCTGCCTGC	0.637													52	157					0	0	0	0	G	95846964	C	G	95846964	3	3	222	1	0	0	0	0	1	0	0	0	15499	739	26	4	721	4	SUSD3	9	95846964	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	770130	95846964	45366467	555	40193											
WNK2	65268	broad.mit.edu	37	chr9	96025977	96025977	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccacgcgtgcgcgctcccgGcaggagagggccagccggcc	5	3	16	17	6	0	1	0	0	0	1	2	2	2	1	5	4	2	2	5	4	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:96025977G>T	ENST00000297954.4	+	14	3540	c.3540G>T	c.(3538-3540)cgG>cgT	p.R1180R	WNK2_ENST00000349097.3_Silent_p.R792R|WNK2_ENST00000395477.2_Silent_p.R1180R|WNK2_ENST00000427277.2_Silent_p.R792R|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1180					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CGCGCTCCCGGCAGGAGAGGG	0.706													6	9					5.9392e-07	1.03657e-06	1	0	T	96025977	G	T	96025977	2	4	222	1	0	0	0	0	0	0	0	1	17474	1190	42	4		4	WNK2	9	96025977	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	179013	96025977	45187454	556	40194											
PTPDC1	138639	broad.mit.edu	37	chr9	96859788	96859788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgatcccaaagcacatGctgtcaccttacctcaatat	11	11	6	13	0	2	1	2	1	0	0	3	1	3	1	3	0	3	3	3	0	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:96859788G>T	ENST00000375360.3	+	7	1118	c.778G>T	c.(778-780)Gct>Tct	p.A260S	PTPDC1_ENST00000288976.3_Missense_Mutation_p.A312S	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	260							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CAAAGCACATGCTGTCACCTT	0.438													129	76					1.6185e-62	4.08388e-62	1	0	T	96859788	G	T	96859788	3	4	222	1	0	0	0	0	1	0	0	0	12853	1319	46	4	1042	4	PTPDC1	9	96859788	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	833811	96859788	44353643	557	40195											
GABBR2	9568	broad.mit.edu	37	chr9	101216274	101216274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggactgaccgtgaccccgaAgaagttggtctcgttcatgg	8	9	14	10	3	2	3	1	2	1	1	3	5	2	4	3	3	0	2	3	3	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:101216274A>G	ENST00000259455.2	-	7	1684	c.1225T>C	c.(1225-1227)Ttc>Ctc	p.F409L		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	409					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GTGACCCCGAAGAAGTTGGTC	0.532													73	70					0	0	0	0	G	101216274	A	G	101216274	3	3	222	1	0	0	0	0	1	0	0	0	6204	72	3	5	1652	5	GABBR2	9	101216274	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	4356486	101216274	39997157	558	40196											
CYLC2	1539	broad.mit.edu	37	chr9	105765547	105765547	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgggacaacacggtttctgTaagcattggaaagattttat	13	12	10	6	2	1	1	0	0	1	1	1	3	1	3	0	3	2	3	0	3	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:105765547T>C	ENST00000374798.3	+	3	250		c.e3+2		CYLC2_ENST00000487798.1_Splice_Site	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2						cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ACGGTTTCTGTAAGCATTGGA	0.323													16	52					0	0	0	0	C	105765547	T	C	105765547	5	2	222	1	0	0	0	0	0	0	1	0	4174	1652	57	5	192	5	CYLC2	9	105765547	Splice_Site	SNP	T	TCGA-CR-7402-01A-11D-2012-08	4549273	105765547	35447884	559	40197											
OR13C9	286362	broad.mit.edu	37	chr9	107379790	107379790	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagctttgcttctcccCtcagaggagtgaatcttgag	10	11	11	9	0	3	4	1	2	2	2	4	6	3	5	2	1	2	2	2	1	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:107379790C>T	ENST00000259362.1	-	1	695	c.696G>A	c.(694-696)gaG>gaA	p.E232E		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGCTTCTCCCCTCAGAGGAGT	0.428													19	85					0	0	0	0	T	107379790	C	T	107379790	2	4	222	1	0	0	0	0	0	0	0	1	11010	680	24	4		4	OR13C9	9	107379790	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1614243	107379790	33833641	560	40198											
RGS3	5998	broad.mit.edu	37	chr9	116353656	116353656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgatgacgaagcctcccGgaagagaaagagcaaaaacc	17	3	12	9	2	0	4	0	2	0	2	1	8	1	6	3	2	3	1	3	2	5	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:116353656G>T	ENST00000374140.2	+	22	3268	c.3059G>T	c.(3058-3060)cGg>cTg	p.R1020L	RGS3_ENST00000343817.5_Missense_Mutation_p.R739L|RGS3_ENST00000462143.1_Missense_Mutation_p.R341L|RGS3_ENST00000350696.5_Missense_Mutation_p.R1020L|RGS3_ENST00000394646.3_Missense_Mutation_p.R413L|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Missense_Mutation_p.R341L	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1020					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAAGCCTCCCGGAAGAGAAAG	0.587													24	63					2.44723e-14	5.07372e-14	1	0	T	116353656	G	T	116353656	3	4	222	1	0	0	0	0	1	0	0	0	13389	1116	39	3	3394	3	RGS3	9	116353656	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	8973866	116353656	24859775	561	40199											
ORM2	5005	broad.mit.edu	37	chr9	117092788	117092788	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtcggttcaggagatccaAgcaaccttcttttactttac	11	13	7	10	1	2	1	1	0	1	1	4	2	3	1	2	2	4	2	2	2	5	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:117092788A>T	ENST00000431067.2	+	2	225	c.189A>T	c.(187-189)caA>caT	p.Q63H	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1			orosomucoid 2											breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)				AGGAGATCCAAGCAACCTTCT	0.512													28	48					0	0	0	0	T	117092788	A	T	117092788	3	4	222	1	0	0	0	0	1	0	0	0	11339	69	3	5	195	5	ORM2	9	117092788	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	739132	117092788	24120643	562	40200											
TNC	3371	broad.mit.edu	37	chr9	117849088	117849088	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagctcactgcagtcttCgcccgtgaaaccctcatcac	9	9	8	15	2	4	2	3	2	1	0	5	3	4	2	2	0	3	2	2	0	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:117849088C>A	ENST00000350763.4	-	3	1333	c.922G>T	c.(922-924)Gaa>Taa	p.E308*	TNC_ENST00000535648.1_Nonsense_Mutation_p.E308*|TNC_ENST00000542877.1_Nonsense_Mutation_p.E308*|TNC_ENST00000537320.1_Nonsense_Mutation_p.E308*|TNC_ENST00000340094.3_Nonsense_Mutation_p.E308*|TNC_ENST00000345230.3_Nonsense_Mutation_p.E308*|TNC_ENST00000341037.4_Nonsense_Mutation_p.E308*|TNC_ENST00000423613.2_Nonsense_Mutation_p.E308*|TNC_ENST00000346706.3_Nonsense_Mutation_p.E308*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	308	EGF-like 5.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTGCAGTCTTCGCCCGTGAAA	0.557													53	79					2.12129e-23	5.05845e-23	1	0	A	117849088	C	A	117849088	4	1	222	1	0	0	0	0	0	1	0	0	16364	893	31	3	5787	3	TNC	9	117849088	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	756300	117849088	23364343	563	40201											
PAPPA	5069	broad.mit.edu	37	chr9	118950331	118950331	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgacgggccacgacggcggGgattgccgccacctgcgcca	6	4	15	16	6	0	1	0	1	0	0	0	3	0	2	5	4	2	0	5	4	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:118950331G>T	ENST00000328252.3	+	2	1683	c.1314G>T	c.(1312-1314)ggG>ggT	p.G438G		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	438	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACGACGGCGGGGATTGCCGCC	0.597													17	62					1.45105e-14	3.02444e-14	1	0	T	118950331	G	T	118950331	2	4	222	1	0	0	0	0	0	0	0	1	11503	1219	43	4		4	PAPPA	9	118950331	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1101243	118950331	22263100	564	40202											
ASTN2	23245	broad.mit.edu	37	chr9	119976723	119976723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccaaactcgtcctcgCgggagacatggttggcccgc	6	7	14	14	4	0	1	0	0	0	1	3	2	1	1	3	4	2	2	3	4	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:119976723C>A	ENST00000313400.4	-	3	1029	c.929G>T	c.(928-930)cGc>cTc	p.R310L	ASTN2_ENST00000373996.3_Missense_Mutation_p.R310L|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R310L			O75129	ASTN2_HUMAN	astrotactin 2	310						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTCGTCCTCGCGGGAGACATG	0.577													28	93					2.65835e-16	5.76221e-16	1	0	A	119976723	C	A	119976723	3	1	222	1	0	0	0	0	1	0	0	0	1069	768	27	3	3249	3	ASTN2	9	119976723	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1026392	119976723	21236708	565	40203											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123177356	123177356	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccgttccaactgtttcCgtagcttctcatttgtttta	5	19	6	11	2	1	0	1	0	1	0	4	0	3	0	3	0	3	5	3	0	3	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:123177356C>G	ENST00000349780.4	-	28	4438	c.4259G>C	c.(4258-4260)cGg>cCg	p.R1420P	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1379P|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R1420P|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1388P	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1420					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.R1420L(1)		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						CAACTGTTTCCGTAGCTTCTC	0.408													23	93					0	0	0	0	G	123177356	C	G	123177356	3	3	222	1	0	0	0	0	1	0	0	0	3175	652	23	3	1466	3	CDK5RAP2	9	123177356	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3200633	123177356	18036075	566	40204											
RBM18	92400	broad.mit.edu	37	chr9	125004254	125004254	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataaacaggcgctgctggaTactctgcatcaggattttcc	11	11	9	10	1	2	0	1	0	1	0	3	2	3	2	1	3	4	3	1	3	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:125004254T>G	ENST00000417201.3	-	6	622	c.482A>C	c.(481-483)tAt>tCt	p.Y161S	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	161							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						CGCTGCTGGATACTCTGCATC	0.408													18	62					0	0	0	0	G	125004254	T	G	125004254	3	3	222	1	0	0	0	0	1	0	0	0	13202	1406	49	5	94	5	RBM18	9	125004254	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1826898	125004254	16209177	567	40205											
PTGS1	5742	broad.mit.edu	37	chr9	125154751	125154751	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaccaagacctgtccctaCgtttccttccgtgtgccgga	8	10	8	15	3	0	1	0	0	0	1	3	2	3	2	6	1	3	1	6	1	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:125154751C>A	ENST00000362012.2	+	11	1733	c.1728C>A	c.(1726-1728)taC>taA	p.Y576*	PTGS1_ENST00000373698.5_Nonsense_Mutation_p.Y467*|PTGS1_ENST00000223423.4_Nonsense_Mutation_p.Y539*|PTGS1_ENST00000540753.1_Nonsense_Mutation_p.Y514*	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	576					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CCTGTCCCTACGTTTCCTTCC	0.582													31	100					2.61193e-14	5.40371e-14	1	0	A	125154751	C	A	125154751	4	1	222	1	0	0	0	0	0	1	0	0	12835	547	19	3	1770	3	PTGS1	9	125154751	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	150497	125154751	16058680	568	40206											
OR1L6	392390	broad.mit.edu	37	chr9	125512443	125512443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagatgtacttctttaTggcatttgggaacactgaca	10	12	10	9	0	1	2	0	1	1	1	1	3	1	3	1	3	2	2	1	3	3	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:125512443T>C	ENST00000373684.1	+	1	425	c.425T>C	c.(424-426)aTg>aCg	p.M142T	OR1L6_ENST00000304720.2_Missense_Mutation_p.M106T			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TACTTCTTTATGGCATTTGGG	0.488													34	148					0	0	0	0	C	125512443	T	C	125512443	3	2	222	1	0	0	0	0	1	0	0	0	11037	1464	51	5	319	5	OR1L6	9	125512443	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	357692	125512443	15700988	569	40207											
LRSAM1	90678	broad.mit.edu	37	chr9	130241717	130241717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctggaactggggcagcGggagcacacccagctccttc	7	5	14	15	2	0	0	0	0	0	0	2	2	1	2	3	4	4	3	3	4	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:130241717G>T	ENST00000323301.4	+	12	1440	c.836G>T	c.(835-837)cGg>cTg	p.R279L	LRSAM1_ENST00000373324.4_Missense_Mutation_p.R279L|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000300417.6_Missense_Mutation_p.R279L|LRSAM1_ENST00000373322.1_Missense_Mutation_p.R279L	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	279					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CTGGGGCAGCGGGAGCACACC	0.602													29	32					7.01153e-11	1.34646e-10	1	0	T	130241717	G	T	130241717	3	4	222	1	0	0	0	0	1	0	0	0	9107	1116	39	3	878	3	LRSAM1	9	130241717	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4729274	130241717	10971714	570	40208											
SH2D3C	10044	broad.mit.edu	37	chr9	130506941	130506941	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcccacctccagtggccGgttatccctggggatcagta	8	8	12	13	1	1	0	1	0	0	0	3	1	3	1	5	5	0	2	5	5	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:130506941G>T	ENST00000314830.8	-	7	1815	c.1702C>A	c.(1702-1704)Cgg>Agg	p.R568R	SH2D3C_ENST00000373274.3_Silent_p.R408R|SH2D3C_ENST00000420366.1_Silent_p.R410R|SH2D3C_ENST00000373276.3_Silent_p.R500R|SH2D3C_ENST00000373277.4_Silent_p.R411R|SH2D3C_ENST00000429553.1_Silent_p.R214R|SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	568					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCAGTGGCCGGTTATCCCTG	0.612													48	135					5.34276e-22	1.25564e-21	1	0	T	130506941	G	T	130506941	2	4	222	1	0	0	0	0	0	0	0	1	14321	1115	39	3		3	SH2D3C	9	130506941	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	265224	130506941	10706490	571	40209											
LAMC3	10319	broad.mit.edu	37	chr9	133946978	133946978	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgctgggagaggccccaagGggggacgtctaccagggcca	8	4	17	12	1	1	1	0	0	1	1	1	3	1	2	4	6	2	1	4	6	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:133946978G>A	ENST00000361069.4	+	18	3310	c.3177G>A	c.(3175-3177)agG>agA	p.R1059R	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1059	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGGCCCCAAGGGGGGACGTCT	0.657													26	38					0	0	0	0	A	133946978	G	A	133946978	2	1	222	1	0	0	0	0	0	0	0	1	8669	1223	43	4		4	LAMC3	9	133946978	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3440037	133946978	7266453	572	40210											
NUP214	8021	broad.mit.edu	37	chr9	134021593	134021593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgccattctcttctgcctCcaagccagctgcttctggac	5	12	8	16	1	3	0	0	0	3	0	6	1	4	1	4	1	4	2	4	1	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:134021593C>A	ENST00000359428.5	+	13	1991	c.1847C>A	c.(1846-1848)tCc>tAc	p.S616Y	RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S616Y|NUP214_ENST00000411637.2_Missense_Mutation_p.S605Y			P35658	NU214_HUMAN	nucleoporin 214kDa	616	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCTTCTGCCTCCAAGCCAGCT	0.567			T	"DEK, SET, ABL1"	"AML, T-ALL"								231	318					1.95565e-89	4.96024e-89	1	0	A	134021593	C	A	134021593	3	1	222	1	0	0	0	0	1	0	0	0	10833	855	30	2	1897	2	NUP214	9	134021593	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	74615	134021593	7191838	573	40211											
POMT1	10585	broad.mit.edu	37	chr9	134394277	134394277	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcaactggagatcgtcggGgagaagctgtcccggggcta	8	6	17	10	4	0	2	0	0	0	2	3	4	1	2	1	6	2	3	1	6	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:134394277G>A	ENST00000423007.1	+	15	1861	c.1419G>A	c.(1417-1419)ggG>ggA	p.G473G	POMT1_ENST00000354713.4_Silent_p.G443G|POMT1_ENST00000404875.2_Silent_p.G356G|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000372228.3_Silent_p.G495G|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000541219.1_Silent_p.G251G|POMT1_ENST00000419118.2_Silent_p.G321G|POMT1_ENST00000402686.3_Silent_p.G473G|POMT1_ENST00000341012.7_Silent_p.G419G	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	495	MIR 3.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AGATCGTCGGGGAGAAGCTGT	0.677													22	47					0	0	0	0	A	134394277	G	A	134394277	2	1	222	1	0	0	0	0	0	0	0	1	12317	1219	43	4		4	POMT1	9	134394277	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	372684	134394277	6819154	574	40212											
SURF2	6835	broad.mit.edu	37	chr9	136226863	136226863	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggggtggagtacgtgccTgcctgcctggtgcaccggag	6	7	17	11	2	0	0	0	0	0	0	0	2	0	2	4	5	5	2	4	5	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:136226863T>C	ENST00000371964.4	+	4	416	c.375T>C	c.(373-375)ccT>ccC	p.P125P	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN	surfeit 2	125							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGTACGTGCCTGCCTGCCTGG	0.647													9	23					0	0	0	0	C	136226863	T	C	136226863	2	2	222	1	0	0	0	0	0	0	0	1	15494	1567	55	5		5	SURF2	9	136226863	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1832586	136226863	4986568	575	40213											
SEC16A	9919	broad.mit.edu	37	chr9	139353630	139353630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcacccagggactgggCgtactcataggcttccgtcc	6	8	12	15	3	1	0	1	0	0	0	4	1	3	1	3	4	1	3	3	4	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:139353630C>G	ENST00000313050.7	-	15	5438	c.5365G>C	c.(5365-5367)Gcc>Ccc	p.A1789P	SEC16A_ENST00000431893.2_Missense_Mutation_p.A1611P|SEC16A_ENST00000371706.3_Missense_Mutation_p.A1611P|SEC16A_ENST00000290037.6_Missense_Mutation_p.A1611P	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1611	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGGGACTGGGCGTACTCATAG	0.522													60	65					0	0	0	0	G	139353630	C	G	139353630	3	3	222	1	0	0	0	0	1	0	0	0	14073	768	27	3	1772	3	SEC16A	9	139353630	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3126767	139353630	1859801	576	40214											
CUBN	8029	broad.mit.edu	37	chr10	16946023	16946023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgttcgttggtgacaaaGtgaatccatacctgagaata	14	10	9	8	2	0	3	0	3	0	1	2	4	1	3	2	1	1	2	2	1	5	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:16946023G>T	ENST00000377833.4	-	51	8069	c.8004C>A	c.(8002-8004)caC>caA	p.H2668Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2668	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGTGACAAAGTGAATCCATA	0.378													11	25					2.80697e-09	5.18149e-09	1	0	T	16946023	G	T	16946023	3	4	222	1	0	0	0	0	1	0	0	0	4083	1020	36	4	2935	4	CUBN	10	16946023	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08		16946023	118588724	577	40215											
CUBN	8029	broad.mit.edu	37	chr10	17126346	17126346	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttgtatttgttctcccTggggctgcttcatcatatag	6	18	9	8	0	3	1	2	1	1	0	4	1	3	1	1	2	1	4	1	2	3	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:17126346T>A	ENST00000377833.4	-	17	2290	c.2225A>T	c.(2224-2226)cAg>cTg	p.Q742L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	742	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGTTCTCCCTGGGGCTGCTT	0.498													21	41					0	0	0	0	A	17126346	T	A	17126346	3	1	222	1	0	0	0	0	1	0	0	0	4083	1580	55	5	8850	5	CUBN	10	17126346	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	180323	17126346	118408401	578	40216											
CUBN	8029	broad.mit.edu	37	chr10	17168764	17168764	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcatgagacctacctgcTgcaagccttggaattttctc	9	12	9	11	0	1	1	0	1	1	1	2	3	1	2	3	1	5	4	3	1	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:17168764T>A	ENST00000377833.4	-	4	448	c.383A>T	c.(382-384)cAg>cTg	p.Q128L	CUBN_ENST00000377823.1_Missense_Mutation_p.Q128L	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	128					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTACCTGCTGCAAGCCTTG	0.393													20	30					0	0	0	0	A	17168764	T	A	17168764	3	1	222	1	0	0	0	0	1	0	0	0	4083	1580	55	5	10744	5	CUBN	10	17168764	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	42418	17168764	118365983	579	40217											
CACNB2	783	broad.mit.edu	37	chr10	18690910	18690910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgatgtatctctggaggagGaccgggaggcagtgcgcaga	9	6	17	9	3	1	1	0	0	1	1	2	6	1	5	2	5	1	3	2	5	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:18690910G>T	ENST00000396576.2	+	2	607	c.106G>T	c.(106-108)Gac>Tac	p.D36Y	CACNB2_ENST00000377319.3_Missense_Mutation_p.D36Y|CACNB2_ENST00000377315.4_Missense_Mutation_p.D43Y|CACNB2_ENST00000282343.8_Missense_Mutation_p.D63Y|CACNB2_ENST00000377331.2_Missense_Mutation_p.D63Y|CACNB2_ENST00000377328.1_Missense_Mutation_p.D91Y|CACNB2_ENST00000352115.6_Missense_Mutation_p.D91Y|CACNB2_ENST00000377329.4_Missense_Mutation_p.D37Y|CACNB2_ENST00000324631.7_Missense_Mutation_p.D91Y	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	91					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCTGGAGGAGGACCGGGAGGC	0.507													11	56					2.80697e-09	5.18149e-09	1	0	T	18690910	G	T	18690910	3	4	222	1	0	0	0	0	1	0	0	0	2578	1174	41	2	501	2	CACNB2	10	18690910	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1522146	18690910	116843837	580	40218											
NEBL	10529	broad.mit.edu	37	chr10	21108419	21108419	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgcttaccggagtggcCttgtagttttgctctttata	6	17	10	8	1	2	0	1	0	1	0	2	1	2	1	2	2	3	4	2	2	4	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:21108419C>T	ENST00000377122.4	-	20	2385	c.1989G>A	c.(1987-1989)aaG>aaA	p.K663K	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	663					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCGGAGTGGCCTTGTAGTTTT	0.438													32	104					0	0	0	0	T	21108419	C	T	21108419	2	4	222	1	0	0	0	0	0	0	0	1	10373	680	24	4		4	NEBL	10	21108419	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2417509	21108419	114426328	581	40219											
ENKUR	219670	broad.mit.edu	37	chr10	25279433	25279433	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatcggagagccttttcaTagctgctttcttaaggtttt	7	18	8	8	1	3	1	2	0	1	1	4	2	3	1	1	2	3	3	1	2	2	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:25279433T>C	ENST00000331161.4	-	4	772	c.553A>G	c.(553-555)Atg>Gtg	p.M185V	ENKUR_ENST00000376363.1_Missense_Mutation_p.M185V	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	185	IQ.					cilium|flagellum	calmodulin binding|SH3 domain binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						AGCCTTTTCATAGCTGCTTTC	0.408													22	43					0	0	0	0	C	25279433	T	C	25279433	3	2	222	1	0	0	0	0	1	0	0	0	5158	1406	49	5	229	5	ENKUR	10	25279433	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	4171014	25279433	110255314	582	40220											
YME1L1	10730	broad.mit.edu	37	chr10	27403474	27403474	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaggattcttatttcttgTtcgatggcagattgggtttc	8	17	11	5	1	2	2	0	0	2	2	4	4	2	3	0	3	0	3	0	3	2	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:27403474T>C	ENST00000326799.3	-	19	2302	c.2154A>G	c.(2152-2154)gaA>gaG	p.E718E	YME1L1_ENST00000376016.3_Silent_p.E661E|YME1L1_ENST00000375972.3_Silent_p.E628E	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	718					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTATTTCTTGTTCGATGGCAG	0.328													12	43					0	0	0	0	C	27403474	T	C	27403474	2	2	222	1	0	0	0	0	0	0	0	1	17583	1722	60	5		5	YME1L1	10	27403474	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2124041	27403474	108131273	583	40221											
LYZL2	119180	broad.mit.edu	37	chr10	30915774	30915774	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatttttgccagtttgcaaCgagtgtagattttggactcg	9	16	10	6	2	0	1	0	0	0	1	1	3	0	2	1	1	3	3	1	1	3	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:30915774C>G	ENST00000375318.2	-	2	265	c.209G>C	c.(208-210)cGt>cCt	p.R70P		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	24					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CAGTTTGCAACGAGTGTAGAT	0.522													27	49					0	0	0	0	G	30915774	C	G	30915774	3	3	222	1	0	0	0	0	1	0	0	0	9197	536	19	3	391	3	LYZL2	10	30915774	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3512300	30915774	104618973	584	40222											
ZEB1	6935	broad.mit.edu	37	chr10	31815599	31815599	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagaattcttattttgcaGgtaaaagacctcatgagtgt	14	13	8	6	0	2	3	1	1	1	2	2	3	2	3	1	1	2	2	1	1	5	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:31815599G>T	ENST00000446923.2	+	9	3125		c.e9-1		ZEB1_ENST00000542815.3_Splice_Site|ZEB1_ENST00000560721.2_Splice_Site|ZEB1_ENST00000320985.10_Splice_Site|ZEB1_ENST00000361642.5_Splice_Site	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1						cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTATTTTGCAGGTAAAAGACC	0.348													6	19					0.00198382	0.0031448	1	0	T	31815599	G	T	31815599	5	4	222	1	0	0	0	0	0	0	1	0	17718	1014	35	4	2830	4	ZEB1	10	31815599	Splice_Site	SNP	G	TCGA-CR-7402-01A-11D-2012-08	899825	31815599	103719148	585	40223											
PARD3	56288	broad.mit.edu	37	chr10	34666965	34666965	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggggagaatgtttttcAcatagattggagctgagcca	10	10	13	8	1	1	3	1	1	0	2	1	5	1	4	2	3	2	2	2	3	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:34666965A>T	ENST00000374789.3	-	10	1794	c.1469T>A	c.(1468-1470)gTg>gAg	p.V490E	PARD3_ENST00000544292.1_Missense_Mutation_p.V220E|PARD3_ENST00000545260.1_Missense_Mutation_p.V446E|PARD3_ENST00000374773.1_Missense_Mutation_p.V490E|PARD3_ENST00000374788.3_Missense_Mutation_p.V490E|PARD3_ENST00000545693.1_Missense_Mutation_p.V490E|PARD3_ENST00000374794.3_Missense_Mutation_p.V446E|PARD3_ENST00000340077.5_Missense_Mutation_p.V490E|PARD3_ENST00000374790.3_Missense_Mutation_p.V446E|PARD3_ENST00000374776.1_Missense_Mutation_p.V490E|PARD3_ENST00000346874.4_Missense_Mutation_p.V490E|PARD3_ENST00000350537.4_Missense_Mutation_p.V490E	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	490	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AATGTTTTTCACATAGATTGG	0.478													30	86					0	0	0	0	T	34666965	A	T	34666965	3	4	222	1	0	0	0	0	1	0	0	0	11514	159	6	5	2700	5	PARD3	10	34666965	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2851366	34666965	100867782	586	40224											
ZNF248	57209	broad.mit.edu	37	chr10	38121829	38121829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttttactaataattaagcCcgaaatatttttcaaattca	15	17	2	7	1	2	0	2	0	0	0	2	1	2	0	1	0	2	0	1	0	7	10			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:38121829C>A	ENST00000395867.3	-	6	1004	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.G152C|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						ATAATTAAGCCCGAAATATTT	0.323													21	39					2.4624e-09	4.57135e-09	1	0	A	38121829	C	A	38121829	3	1	222	1	0	0	0	0	1	0	0	0	17888	623	22	4	1289	4	ZNF248	10	38121829	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3454864	38121829	97412918	587	40225											
ZNF25	219749	broad.mit.edu	37	chr10	38242024	38242024	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtgagtatgctgatgtacTatgagggcagacttctggca	10	11	14	6	0	1	4	0	3	1	1	1	5	1	4	0	2	2	5	0	2	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:38242024T>A	ENST00000302609.7	-	6	614	c.402A>T	c.(400-402)atA>atT	p.I134I	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GCTGATGTACTATGAGGGCAG	0.398													43	107					0	0	0	0	A	38242024	T	A	38242024	2	1	222	1	0	0	0	0	0	0	0	1	17889	1512	53	5		5	ZNF25	10	38242024	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	120195	38242024	97292723	588	40226											
RET	5979	broad.mit.edu	37	chr10	43595965	43595965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaagctgtatgtggaccaGgcagccggcacgcccttgct	8	7	14	12	2	0	1	0	0	0	1	0	3	0	2	3	3	3	5	3	3	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:43595965G>T	ENST00000355710.3	+	2	364	c.132G>T	c.(130-132)caG>caT	p.Q44H	RET_ENST00000340058.5_Missense_Mutation_p.Q44H	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	44					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ATGTGGACCAGGCAGCCGGCA	0.612		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				19	41					7.21436e-19	1.63264e-18	1	0	T	43595965	G	T	43595965	3	4	222	1	0	0	0	0	1	0	0	0	13317	991	35	4	138	4	RET	10	43595965	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5353941	43595965	91938782	589	40227											
GDF10	2662	broad.mit.edu	37	chr10	48438504	48438504	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccatgtcctgggcgctGgggcccaacgtggcggccgc	4	5	17	15	5	0	0	0	0	0	0	1	1	1	0	4	5	1	1	4	5	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:48438504G>A	ENST00000224605.2	-	1	472	c.207C>T	c.(205-207)ccC>ccT	p.P69P		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	69					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCTGGGCGCTGGGGCCCAACG	0.741													8	14					0	0	0	0	A	48438504	G	A	48438504	2	1	222	1	0	0	0	0	0	0	0	1	6362	1335	47	4		4	GDF10	10	48438504	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4842539	48438504	87096243	590	40228											
FRMPD2	143162	broad.mit.edu	37	chr10	49431169	49431169	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttgcagcactcactggAgcagcccatagtggctgaca	10	8	12	11	0	1	1	1	1	0	0	1	2	1	2	1	3	4	5	1	3	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:49431169A>T	ENST00000374201.3	-	11	1615	c.1313T>A	c.(1312-1314)cTc>cAc	p.L438H	FRMPD2_ENST00000407470.4_Missense_Mutation_p.L407H|FRMPD2_ENST00000305531.3_Missense_Mutation_p.L414H	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	438	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CACTCACTGGAGCAGCCCATA	0.473													30	59					0	0	0	0	T	49431169	A	T	49431169	3	4	222	1	0	0	0	0	1	0	0	0	6106	304	11	5	2692	5	FRMPD2	10	49431169	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	992665	49431169	86103578	591	40229											
ERCC6	2074	broad.mit.edu	37	chr10	50667067	50667067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcatctccaccagaaggtCatcgtgttctgtggtgggca	7	12	11	11	1	4	1	2	0	3	1	7	1	4	1	2	3	0	2	2	3	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:50667067C>G	ENST00000355832.5	-	21	4354	c.4276G>C	c.(4276-4278)Gac>Cac	p.D1426H	ERCC6_ENST00000542458.1_Missense_Mutation_p.D796H|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1426	Ubiquitin-binding domain (UBD).				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACCAGAAGGTCATCGTGTTCT	0.527								Direct reversal of damage;Nucleotide excision repair (NER)					25	70					0	0	0	0	G	50667067	C	G	50667067	3	3	222	1	0	0	0	0	1	0	0	0	5255	826	29	2	209	2	ERCC6	10	50667067	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1235898	50667067	84867680	592	40230											
OGDHL	55753	broad.mit.edu	37	chr10	50966454	50966454	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgtggacactctgggggTtttccaaccaggcgaagtac	8	10	12	11	1	1	0	0	0	1	0	2	2	2	1	3	4	2	2	3	4	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:50966454T>A	ENST00000374103.4	-	2	270	c.185A>T	c.(184-186)aAc>aTc	p.N62I	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Missense_Mutation_p.N62I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	62					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACTCTGGGGGTTTTCCAACCA	0.662													31	92					0	0	0	0	A	50966454	T	A	50966454	3	1	222	1	0	0	0	0	1	0	0	0	10911	1725	60	5	2935	5	OGDHL	10	50966454	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	299387	50966454	84568293	593	40231											
A1CF	29974	broad.mit.edu	37	chr10	52575947	52575947	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctccttgcagcatggtGccccttccacctgtgcctcg	4	12	8	17	1	1	0	0	0	1	0	4	0	2	0	6	1	5	2	6	1	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:52575947G>A	ENST00000395489.2	-	11	1335	c.939C>T	c.(937-939)ggC>ggT	p.G313G	A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Silent_p.G320G|A1CF_ENST00000373997.3_Silent_p.G320G|A1CF_ENST00000374001.1_Silent_p.G320G|A1CF_ENST00000373993.1_Silent_p.G320G|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395495.1_Silent_p.G265G|A1CF_ENST00000373995.3_Silent_p.G328G	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	320					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GCAGCATGGTGCCCCTTCCAC	0.517													12	53					0	0	0	0	A	52575947	G	A	52575947	2	1	222	1	0	0	0	0	0	0	0	1	2	1306	46	4		4	A1CF	10	52575947	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1609493	52575947	82958800	594	40232											
PCDH15	65217	broad.mit.edu	37	chr10	55569197	55569197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggctctcttccatgttGtgtatgtaggctcagctgct	4	17	10	10	0	3	0	1	0	2	0	5	0	4	0	1	2	2	7	1	2	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:55569197G>T	ENST00000395445.1	-	36	5007	c.4613C>A	c.(4612-4614)aCa>aAa	p.T1538K	PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.T734K|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.T472K|PCDH15_ENST00000395442.1_Missense_Mutation_p.T403K	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTCCATGTTGTGTATGTAGG	0.398										HNSCC(58;0.16)			52	151					1.35964e-18	3.05918e-18	1	0	T	55569197	G	T	55569197	3	4	222	1	0	0	0	0	1	0	0	0	11582	1377	48	4	1303	4	PCDH15	10	55569197	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2993250	55569197	79965550	595	40233											
PCDH15	65217	broad.mit.edu	37	chr10	56106245	56106245	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtaccaactggagtgagCtgaaaggaaaaaagatttta	16	9	12	4	0	0	3	0	2	0	1	0	5	0	5	1	3	3	2	1	3	7	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:56106245C>A	ENST00000373965.2	-	6	869		c.e6-1		PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site|PCDH15_ENST00000395442.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGGAGTGAGCTGAAAGGAAA	0.338										HNSCC(58;0.16)			34	89					2.26627e-22	5.34545e-22	1	0	A	56106245	C	A	56106245	5	1	222	1	0	0	0	0	0	0	1	0	11582	811	28	4	7149	4	PCDH15	10	56106245	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	537048	56106245	79428502	596	40234											
ANK3	288	broad.mit.edu	37	chr10	62039399	62039399	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttgcattggcatcagacTaaaataaaaaagaaacacat	21	8	5	7	0	1	2	1	0	0	2	1	2	1	2	0	1	3	2	0	1	7	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:62039399T>G	ENST00000280772.1	-	2	306		c.e2-2		ANK3_ENST00000503366.1_Splice_Site|ANK3_ENST00000373827.2_Splice_Site	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGCATCAGACTAAAATAAAAA	0.333													25	64					0	0	0	0	G	62039399	T	G	62039399	5	3	222	1	0	0	0	0	0	0	1	0	622	1536	53	5	13521	5	ANK3	10	62039399	Splice_Site	SNP	T	TCGA-CR-7402-01A-11D-2012-08	5933154	62039399	73495348	597	40235											
MYPN	84665	broad.mit.edu	37	chr10	69961674	69961674	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgagactggagtgccgCgtgataggcatgcccccacc	7	6	13	15	3	0	2	0	2	0	1	0	4	0	3	5	2	2	1	5	2	1	1	rs139820597	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:69961674C>A	ENST00000358913.5	+	18	4070	c.3582C>A	c.(3580-3582)cgC>cgA	p.R1194R	MYPN_ENST00000354393.2_Silent_p.R919R|MYPN_ENST00000540630.1_Silent_p.R1194R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1194	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding	p.R1194R(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGGAGTGCCGCGTGATAGGCA	0.547													34	84					1.56738e-10	2.99812e-10	1	0	A	69961674	C	A	69961674	2	1	222	1	0	0	0	0	0	0	0	1	10168	755	27	3		3	MYPN	10	69961674	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	7922275	69961674	65573073	598	40236											
CDH23	64072	broad.mit.edu	37	chr10	73550138	73550138	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagctgctgggtgcccAgagtggcctctttgacatca	7	10	11	13	0	2	2	1	1	1	1	2	2	2	2	3	2	4	2	3	2	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:73550138A>G	ENST00000224721.6	+	45	6037	c.6032A>G	c.(6031-6033)cAg>cGg	p.Q2011R		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2006	Cadherin 19.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGGGTGCCCAGAGTGGCCTC	0.632													11	36					0	0	0	0	G	73550138	A	G	73550138	3	3	222	1	0	0	0	0	1	0	0	0	3137	188	7	5	6540	5	CDH23	10	73550138	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	3588464	73550138	61984609	599	40237											
KCNMA1	3778	broad.mit.edu	37	chr10	78729807	78729807	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttttttggtgatagtgttGacggctgctcatcttcaact	6	19	9	7	1	3	2	2	2	1	0	3	2	3	2	0	2	2	3	0	2	2	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:78729807G>C	ENST00000286627.5	-	19	3063	c.2111C>G	c.(2110-2112)tCa>tGa	p.S704*	KCNMA1_ENST00000286628.8_Nonsense_Mutation_p.S762*|RP11-443A13.5_ENST00000598613.1_RNA|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372440.1_Nonsense_Mutation_p.S704*|KCNMA1_ENST00000372443.1_Nonsense_Mutation_p.S704*|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404771.3_Nonsense_Mutation_p.S762*|KCNMA1_ENST00000404857.1_Nonsense_Mutation_p.S704*|KCNMA1_ENST00000406533.3_Nonsense_Mutation_p.S766*|KCNMA1_ENST00000354353.5_Nonsense_Mutation_p.S765*	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	699					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGATAGTGTTGACGGCTGCTC	0.483													22	84					0	0	0	0	C	78729807	G	C	78729807	4	2	222	1	0	0	0	0	0	1	0	0	8126	1294	45	2	1617	2	KCNMA1	10	78729807	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5179669	78729807	56804940	600	40238											
KCNMA1	3778	broad.mit.edu	37	chr10	78846339	78846339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacagagcttcaagctccagGttgggggagatgctacacag	12	7	13	9	0	1	2	1	0	0	2	2	3	2	2	1	3	5	4	1	3	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:78846339G>T	ENST00000286627.5	-	11	2299	c.1347C>A	c.(1345-1347)aaC>aaA	p.N449K	KCNMA1_ENST00000286628.8_Missense_Mutation_p.N449K|KCNMA1_ENST00000372440.1_Missense_Mutation_p.N449K|KCNMA1_ENST00000372443.1_Missense_Mutation_p.N449K|KCNMA1_ENST00000404771.3_Missense_Mutation_p.N449K|KCNMA1_ENST00000404857.1_Missense_Mutation_p.N449K|KCNMA1_ENST00000406533.3_Missense_Mutation_p.N449K|KCNMA1_ENST00000354353.5_Missense_Mutation_p.N449K	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	449	RCK N-terminal.			N -> D (in Ref. 12; AAD31173).	cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CAAGCTCCAGGTTGGGGGAGA	0.468													16	26					8.60227e-14	1.75735e-13	1	0	T	78846339	G	T	78846339	3	4	222	1	0	0	0	0	1	0	0	0	8126	1252	44	4	2607	4	KCNMA1	10	78846339	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	116532	78846339	56688408	601	40239											
NRG3	10718	broad.mit.edu	37	chr10	84745231	84745231	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagactacgaactggccaGcgtagaaaccgaggacagtg	15	4	13	9	3	0	3	0	0	0	3	0	6	0	4	2	2	4	1	2	2	5	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:84745231G>C	ENST00000372142.2	+	11	1644	c.1370G>C	c.(1369-1371)aGc>aCc	p.S457T	NRG3_ENST00000556918.1_Missense_Mutation_p.S484T|NRG3_ENST00000404547.1_Missense_Mutation_p.S678T|NRG3_ENST00000537893.1_Missense_Mutation_p.S304T|NRG3_ENST00000404576.2_Missense_Mutation_p.S458T|NRG3_ENST00000545131.1_Missense_Mutation_p.S304T|NRG3_ENST00000372141.2_Missense_Mutation_p.S654T	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	678					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAACTGGCCAGCGTAGAAACC	0.473													17	26					0	0	0	0	C	84745231	G	C	84745231	3	2	222	1	0	0	0	0	1	0	0	0	10720	971	34	4	2239	4	NRG3	10	84745231	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5898892	84745231	50789516	602	40240											
C10orf99	387695	broad.mit.edu	37	chr10	85944465	85944465	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggctctgtaaaccatgCaagcttgagccagagccccg	10	7	12	12	1	1	3	0	2	1	1	1	3	1	3	4	1	5	4	4	1	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:85944465C>A	ENST00000372126.3	+	3	303	c.189C>A	c.(187-189)tgC>tgA	p.C63*	C10orf99_ENST00000472542.1_Intron	NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	63						extracellular region				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GTAAACCATGCAAGCTTGAGC	0.577													24	58					1.77063e-15	3.77104e-15	1	0	A	85944465	C	A	85944465	4	1	222	1	0	0	0	0	0	1	0	0	1638	718	25	4	199	4	C10orf99	10	85944465	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1199234	85944465	49590282	603	40241											
FAS	355	broad.mit.edu	37	chr10	90762893	90762893	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttactacagttgagacTcagaacttggaaggcctgca	12	10	10	9	0	1	2	1	1	0	2	1	4	1	3	1	2	4	3	1	2	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:90762893T>A	ENST00000355740.2	+	2	358	c.138T>A	c.(136-138)acT>acA	p.T46T	FAS_ENST00000357339.2_Silent_p.T46T|FAS_ENST00000352159.4_Silent_p.T46T|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000355279.2_Silent_p.T46T	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	46					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		CAGTTGAGACTCAGAACTTGG	0.443													27	64					0	0	0	0	A	90762893	T	A	90762893	2	1	222	1	0	0	0	0	0	0	0	1	5726	1538	54	5		5	FAS	10	90762893	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	4818428	90762893	44771854	604	40242											
TNKS2	80351	broad.mit.edu	37	chr10	93601155	93601155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatggaaatttacacctttaCatgaagcagcagcaaaagga	17	9	8	7	0	0	1	0	1	0	0	0	3	0	3	1	2	5	3	1	2	7	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:93601155C>A	ENST00000371627.4	+	15	2168	c.1789C>A	c.(1789-1791)Cat>Aat	p.H597N		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	597					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TACACCTTTACATGAAGCAGC	0.323													17	57					2.94398e-08	5.31878e-08	1	0	A	93601155	C	A	93601155	3	1	222	1	0	0	0	0	1	0	0	0	16415	478	17	4	1847	4	TNKS2	10	93601155	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2838262	93601155	41933592	605	40243											
CYP2C19	1557	broad.mit.edu	37	chr10	96535277	96535277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccgctgccttgtggaGgagttgagaaaaaccaaggg	12	6	15	8	1	0	1	0	1	0	1	0	5	0	3	3	3	3	2	3	3	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:96535277G>C	ENST00000371321.3	+	3	544	c.462G>C	c.(460-462)gaG>gaC	p.E154D	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	154					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GCCTTGTGGAGGAGTTGAGAA	0.517													39	121					0	0	0	0	C	96535277	G	C	96535277	3	2	222	1	0	0	0	0	1	0	0	0	4198	991	35	4	472	4	CYP2C19	10	96535277	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2934122	96535277	38999470	606	40244											
ABCC2	1244	broad.mit.edu	37	chr10	101544522	101544522	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcctctaccaccaaacTctatcttgctaagcaggtaa	13	10	6	12	0	3	1	0	0	3	1	4	2	4	1	3	1	4	3	3	1	5	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:101544522T>A	ENST00000370449.4	+	2	304	c.191T>A	c.(190-192)cTc>cAc	p.L64H	ABCC2_ENST00000370434.1_Missense_Mutation_p.L64H	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	64						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACCACCAAACTCTATCTTGCT	0.473													28	55					0	0	0	0	A	101544522	T	A	101544522	3	1	222	1	0	0	0	0	1	0	0	0	53	1551	54	5	197	5	ABCC2	10	101544522	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	5009245	101544522	33990225	607	40245											
ELOVL3	83401	broad.mit.edu	37	chr10	103988898	103988898	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgccacaccacgatggaAcacttattctggtccttcat	10	11	8	12	1	2	0	1	0	1	0	3	3	3	2	3	3	2	0	3	3	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:103988898A>G	ENST00000370005.3	+	4	923	c.702A>G	c.(700-702)gaA>gaG	p.E234E		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	234					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CCACGATGGAACACTTATTCT	0.498													15	37					0	0	0	0	G	103988898	A	G	103988898	2	3	222	1	0	0	0	0	0	0	0	1	5113	40	2	5		5	ELOVL3	10	103988898	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2444376	103988898	31545849	608	40246											
PDCD4	27250	broad.mit.edu	37	chr10	112647635	112647635	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcactggatactcctagAgcaccacaggtttgtatgat	11	12	9	9	0	0	2	0	1	0	1	1	3	1	3	2	2	3	4	2	2	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:112647635A>T	ENST00000393104.2	+	7	1095	c.735A>T	c.(733-735)agA>agT	p.R245S	PDCD4_ENST00000280154.7_Missense_Mutation_p.R256S|PDCD4_ENST00000481353.1_3'UTR	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	256	MI 1.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ATACTCCTAGAGCACCACAGG	0.353													14	28					0	0	0	0	T	112647635	A	T	112647635	3	4	222	1	0	0	0	0	1	0	0	0	11692	301	11	5	800	5	PDCD4	10	112647635	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	8658737	112647635	22887112	609	40247											
DCLRE1A	9937	broad.mit.edu	37	chr10	115608754	115608754	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaccaggtattttcttatAgaatggacatgtcttttttc	9	19	6	7	0	2	1	0	0	2	1	3	2	2	2	1	2	1	1	1	2	5	9			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:115608754A>G	ENST00000361384.2	-	2	3027	c.2110T>C	c.(2110-2112)Tat>Cat	p.Y704H	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.Y704H	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	704					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		ATTTTCTTATAGAATGGACAT	0.378								Other identified genes with known or suspected DNA repair function					67	136					0	0	0	0	G	115608754	A	G	115608754	3	3	222	1	0	0	0	0	1	0	0	0	4326	420	15	5	1044	5	DCLRE1A	10	115608754	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2961119	115608754	19925993	610	40248											
NHLRC2	374354	broad.mit.edu	37	chr10	115636695	115636695	+	Frame_Shift_Del	DEL	G	G	-																															actggacatcatagaattttGgtcgtttggaagaatggaca																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:115636695delG	ENST00000369301.3	+	3	959	c.747delG	c.(745-747)ttfs	p.L249fs		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	249					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ATAGAATTTTGGTCGTTTGGA	0.358													11	41	---	---	---	---					-	115636695	G	-	115636695	7	5	222	1	0	1	0	1	0	0	0	0	10476	1339	47	0	757	0	NHLRC2	10	115636695	Frame_Shift_Del	DEL	G	TCGA-CR-7402-01A-11D-2012-08	27941	115636695	19898052	611	40249											
ATRNL1	26033	broad.mit.edu	37	chr10	117075142	117075142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcattgaaggttcttcacGgggaccaatgaagcttattg	10	13	11	7	1	2	2	1	2	1	0	2	3	2	3	1	3	2	3	1	3	4	6	rs140980345		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:117075142G>A	ENST00000355044.3	+	18	3059	c.2933G>A	c.(2932-2934)cGg>cAg	p.R978Q	ATRNL1_ENST00000423111.2_Missense_Mutation_p.R75Q|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	978	PSI 5.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGTTCTTCACGGGGACCAATG	0.458													27	67					0	0	0	0	A	117075142	G	A	117075142	3	1	222	1	0	0	0	0	1	0	0	0	1211	1116	39	1	3003	1	ATRNL1	10	117075142	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1438447	117075142	18459605	612	40250											
KCNK18	338567	broad.mit.edu	37	chr10	118957144	118957144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgccattgaggacggccagGtcctggtggcagcagatgat	8	8	15	10	1	0	3	0	2	0	1	1	4	1	4	3	5	2	2	3	5	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:118957144G>T	ENST00000334549.1	+	1	145	c.145G>T	c.(145-147)Gtc>Ttc	p.V49F		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	49						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		GGACGGCCAGGTCCTGGTGGC	0.572													16	49					3.45872e-05	5.71962e-05	1	0	T	118957144	G	T	118957144	3	4	222	1	0	0	0	0	1	0	0	0	8118	1261	44	4	147	4	KCNK18	10	118957144	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1882002	118957144	16577603	613	40251											
HTRA1	5654	broad.mit.edu	37	chr10	124266322	124266322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcaccaccgggatcgtgaGcaccacccagcgaggcggca	10	3	13	15	4	1	1	1	1	0	0	2	3	1	2	4	3	2	2	4	3	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:124266322G>T	ENST00000368984.3	+	4	1021	c.893G>T	c.(892-894)aGc>aTc	p.S298I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	298	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GGGATCGTGAGCACCACCCAG	0.622													25	75					8.24728e-16	1.77585e-15	1	0	T	124266322	G	T	124266322	3	4	222	1	0	0	0	0	1	0	0	0	7506	971	34	4	907	4	HTRA1	10	124266322	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5309178	124266322	11268425	614	40252											
DMBT1	1755	broad.mit.edu	37	chr10	124339216	124339216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actactgggacaccaatgatGccaatgtggtctgcaggcag	11	8	12	10	0	1	1	0	1	1	0	1	2	1	2	2	3	3	2	2	3	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:124339216G>A	ENST00000368909.3	+	10	908	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	DMBT1_ENST00000368956.2_Missense_Mutation_p.A268T|DMBT1_ENST00000344338.3_Missense_Mutation_p.A268T|DMBT1_ENST00000338354.3_Missense_Mutation_p.A268T|DMBT1_ENST00000330163.4_Missense_Mutation_p.A268T|DMBT1_ENST00000368955.3_Missense_Mutation_p.A268T|DMBT1_ENST00000359586.6_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	268	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCAATGATGCCAATGTGGT	0.607													139	346					0	0	0	0	A	124339216	G	A	124339216	3	1	222	1	0	0	0	0	1	0	0	0	4614	1319	46	4	840	4	DMBT1	10	124339216	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	72894	124339216	11195531	615	40253											
C10orf120	399814	broad.mit.edu	37	chr10	124457725	124457725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtaaaggctgatgatttcCcagagcccgagcaagcctca	11	7	12	11	1	1	3	1	2	0	1	2	4	2	3	3	2	3	3	3	2	3	2	rs148798284		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:124457725C>T	ENST00000329446.4	-	3	563	c.532G>A	c.(532-534)Gga>Aga	p.G178R		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	178										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGATGATTTCCCAGAGCCCGA	0.502													35	85					0	0	0	0	T	124457725	C	T	124457725	3	4	222	1	0	0	0	0	1	0	0	0	1600	632	22	4	479	4	C10orf120	10	124457725	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	118509	124457725	11077022	616	40254											
C10orf88	80007	broad.mit.edu	37	chr10	124708266	124708266	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccttgtcaaggtctatccTtgatcctagagcaggagagc	10	10	11	10	0	2	3	1	1	1	2	4	5	4	3	3	2	2	1	3	2	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:124708266T>A	ENST00000481909.1	-	4	771	c.547A>T	c.(547-549)Agg>Tgg	p.R183W	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	183										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		AGGTCTATCCTTGATCCTAGA	0.458													28	33					0	0	0	0	A	124708266	T	A	124708266	3	1	222	1	0	0	0	0	1	0	0	0	1632	1608	56	5	802	5	C10orf88	10	124708266	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	250541	124708266	10826481	617	40255											
DOCK1	1793	broad.mit.edu	37	chr10	129224216	129224216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggccgttccacgagaggatgGaggcctgtttcaaacagctg	9	8	14	10	2	1	1	1	0	0	1	2	4	2	3	3	4	2	3	3	4	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:129224216G>A	ENST00000280333.6	+	47	4901	c.4792G>A	c.(4792-4794)Gag>Aag	p.E1598K		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1598	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CGAGAGGATGGAGGCCTGTTT	0.507													71	152					0	0	0	0	A	129224216	G	A	129224216	3	1	222	1	0	0	0	0	1	0	0	0	4720	1175	41	2	4978	2	DOCK1	10	129224216	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4515950	129224216	6310531	618	40256											
PHRF1	57661	broad.mit.edu	37	chr11	608998	608998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggcggcctcggtcccGtgagaagtggccgcagaccc	7	4	15	15	4	0	2	0	1	0	2	2	3	1	2	4	4	0	2	4	4	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:608998G>T	ENST00000264555.5	+	14	3670	c.3542G>T	c.(3541-3543)cGt>cTt	p.R1181L	PHRF1_ENST00000533464.1_Missense_Mutation_p.R1177L|PHRF1_ENST00000416188.2_Missense_Mutation_p.R1180L|PHRF1_ENST00000413872.2_Missense_Mutation_p.R1179L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1181	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCTCGGTCCCGTGAGAAGTGG	0.706													4	13					0.00024832	0.000401132	1	0	T	608998	G	T	608998	3	4	222	1	0	0	0	0	1	0	0	0	11933	1145	40	3	3589	3	PHRF1	11	608998	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08		608998	134397518	619	40257											
MUC6	4588	broad.mit.edu	37	chr11	1017714	1017714	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgtggaggaagtgtgtGaatgtagggatgtagaggtt	9	12	20	0	0	0	2	0	1	0	1	0	5	0	5	0	5	0	3	0	5	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:1017714G>T	ENST00000421673.2	-	31	5137	c.5087C>A	c.(5086-5088)tCa>tAa	p.S1696*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1696	Approximate repeats.|Thr-rich.				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)		GGAAGTGTGTGAATGTAGGGA	0.557													72	883					5.73376e-24	1.37231e-23	1	0	T	1017714	G	T	1017714	4	4	222	1	0	0	0	0	0	1	0	0	10050	1294	45	2	2244	2	MUC6	11	1017714	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	408716	1017714	133988802	620	40258											
TSPAN32	10077	broad.mit.edu	37	chr11	2335755	2335755	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtctcctttcagccgtctggGgagcacagaggctgacctgt	6	10	13	12	1	3	2	1	1	2	1	4	3	3	3	3	3	2	2	3	3	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:2335755G>C	ENST00000182290.4	+	6	634	c.497G>C	c.(496-498)gGg>gCg	p.G166A	TSPAN32_ENST00000381121.3_Missense_Mutation_p.G166A|TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000451520.2_Missense_Mutation_p.G155A	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	166					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGCCGTCTGGGGAGCACAGAG	0.647													3	10					0	0	0	0	C	2335755	G	C	2335755	3	2	222	1	0	0	0	0	1	0	0	0	16742	1232	43	4	519	4	TSPAN32	11	2335755	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1318041	2335755	132670761	621	40259											
ART1	417	broad.mit.edu	37	chr11	3681167	3681167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgtgcgtgaggcgggcCgctcccgggcccactacctc	4	5	14	18	5	0	1	0	1	0	0	2	1	1	1	5	3	3	1	5	3	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:3681167C>A	ENST00000250693.1	+	3	519	c.418C>A	c.(418-420)Cgc>Agc	p.R140S		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	140					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	TGAGGCGGGCCGCTCCCGGGC	0.667													24	40					2.39556e-15	5.06335e-15	1	0	A	3681167	C	A	3681167	3	1	222	1	0	0	0	0	1	0	0	0	1001	652	23	3	424	3	ART1	11	3681167	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1345412	3681167	131325349	622	40260											
OR52I2	143502	broad.mit.edu	37	chr11	4608507	4608507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttgaccgctatgtagcCatctgcaagcctctacacta	9	12	7	13	1	2	1	0	1	2	0	2	1	2	1	3	0	4	4	3	0	5	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:4608507C>T	ENST00000312614.4	+	1	487	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTATGTAGCCATCTGCAAGC	0.488													7	76					0	0	0	0	T	4608507	C	T	4608507	2	4	222	1	0	0	0	0	0	0	0	1	11192	581	21	4		4	OR52I2	11	4608507	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	927340	4608507	130398009	623	40261											
OR52I1	390037	broad.mit.edu	37	chr11	4615655	4615655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttgaccgctatgtagcCatctgcaagcctctacacta	9	12	7	13	1	2	1	0	1	2	0	2	1	2	1	3	0	4	4	3	0	5	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:4615655C>T	ENST00000450052.2	+	2	459	c.459C>T	c.(457-459)gcC>gcT	p.A153A	OR52I1_ENST00000530443.2_Silent_p.A129A			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTATGTAGCCATCTGCAAGC	0.498													17	34					0	0	0	0	T	4615655	C	T	4615655	2	4	222	1	0	0	0	0	0	0	0	1	11191	581	21	4		4	OR52I1	11	4615655	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	7148	4615655	130390861	624	40262											
OR51V1	283111	broad.mit.edu	37	chr11	5221348	5221348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtctgaacaggctaagcGgagaagatcctggtgcaggc	11	7	15	8	1	1	3	0	1	1	2	2	5	2	3	1	4	3	2	1	4	3	1	rs151191536		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:5221348G>A	ENST00000321255.1	-	1	582	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGCTAAGCGGAGAAGATCC	0.398													11	39					0	0	0	0	A	5221348	G	A	5221348	3	1	222	1	0	0	0	0	1	0	0	0	11178	1116	39	1	385	1	OR51V1	11	5221348	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	605693	5221348	129785168	625	40263											
OR51Q1	390061	broad.mit.edu	37	chr11	5443437	5443437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattcatcagtcatgtccCaggtgactaacaccacacaa	14	8	5	14	0	3	1	3	1	0	0	4	1	4	1	2	1	1	0	2	1	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:5443437C>A	ENST00000300778.4	+	1	97	c.7C>A	c.(7-9)Cag>Aag	p.Q3K	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTCATGTCCCAGGTGACTAA	0.448													36	77					7.11191e-15	1.4935e-14	1	0	A	5443437	C	A	5443437	3	1	222	1	0	0	0	0	1	0	0	0	11175	595	21	4	9	4	OR51Q1	11	5443437	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	222089	5443437	129563079	626	40264											
OR56B1	387748	broad.mit.edu	37	chr11	5758078	5758078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtgctttgctcagatttAtgccattcacttctttgtgg	6	18	9	8	0	3	2	2	1	1	1	3	2	3	2	1	1	3	2	1	1	1	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:5758078A>G	ENST00000317121.3	+	1	398	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GCTCAGATTTATGCCATTCAC	0.458													9	32					0	0	0	0	G	5758078	A	G	5758078	3	3	222	1	0	0	0	0	1	0	0	0	11208	449	16	5	334	5	OR56B1	11	5758078	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	314641	5758078	129248438	627	40265											
OR52B2	255725	broad.mit.edu	37	chr11	6191434	6191434	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcaggatgctgtttcccagGactgcagtgatgtaaatgag	11	11	12	7	0	1	2	1	2	0	0	2	4	2	4	1	2	2	4	1	2	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:6191434G>T	ENST00000530810.1	-	1	204	c.123C>A	c.(121-123)gtC>gtA	p.V41V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTTCCCAGGACTGCAGTGA	0.478													22	71					7.45023e-12	1.45503e-11	1	0	T	6191434	G	T	6191434	2	4	222	1	0	0	0	0	0	0	0	1	11182	1161	41	2		2	OR52B2	11	6191434	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	433356	6191434	128815082	628	40266											
SPTY2D1	144108	broad.mit.edu	37	chr11	18637522	18637522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttgacttttcctcaataGgaatcccattgtaaccatgg	10	15	6	10	0	2	1	1	1	1	0	4	2	4	2	3	2	1	1	3	2	4	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:18637522G>T	ENST00000336349.5	-	3	534	c.299C>A	c.(298-300)cCt>cAt	p.P100H	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	100										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TTCCTCAATAGGAATCCCATT	0.433													54	87					1.0331e-37	2.57024e-37	1	0	T	18637522	G	T	18637522	3	4	222	1	0	0	0	0	1	0	0	0	15216	1000	35	4	1774	4	SPTY2D1	11	18637522	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	12446088	18637522	116368994	629	40267											
NAV2	89797	broad.mit.edu	37	chr11	20065574	20065574	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggaattccctgtggtcTggtgatgatgtcaagaaatc	11	11	13	6	0	2	4	1	2	1	2	4	6	3	5	1	3	0	0	1	3	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:20065574T>C	ENST00000396085.1	+	13	3316	c.2955T>C	c.(2953-2955)tcT>tcC	p.S985S	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Silent_p.S71S|NAV2_ENST00000527559.2_Silent_p.S937S|NAV2_ENST00000360655.4_Silent_p.S921S|NAV2_ENST00000396087.3_Silent_p.S1008S|NAV2_ENST00000540292.1_Silent_p.S939S|NAV2_ENST00000349880.4_Silent_p.S985S|NAV2_ENST00000533917.1_Silent_p.S71S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1008						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCCTGTGGTCTGGTGATGATG	0.527													24	64					0	0	0	0	C	20065574	T	C	20065574	2	2	222	1	0	0	0	0	0	0	0	1	10254	1567	55	5		5	NAV2	11	20065574	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1428052	20065574	114940942	630	40268											
NAV2	89797	broad.mit.edu	37	chr11	20066745	20066745	+	Missense_Mutation	SNP	G	G	T																															cagcggggtgactgtcaccaGcaggtcagccacactgggca																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:20066745G>T	ENST00000396085.1	+	14	3792	c.3431G>T	c.(3430-3432)aGc>aTc	p.S1144I	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Missense_Mutation_p.S230I|NAV2_ENST00000527559.2_Missense_Mutation_p.S1096I|NAV2_ENST00000360655.4_Missense_Mutation_p.S1080I|NAV2_ENST00000396087.3_Missense_Mutation_p.S1167I|NAV2_ENST00000540292.1_Missense_Mutation_p.S1098I|NAV2_ENST00000349880.4_Missense_Mutation_p.S1144I|NAV2_ENST00000533917.1_Missense_Mutation_p.S230I	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1167						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACTGTCACCAGCAGGTCAGCC	0.572													19	79					9.95505e-16	2.12716e-15	1	0	T	20066745	G	T	20066745	3	4	222	1	0	0	0	0	1	0	0	0	10254	971	34	4	3594	4	NAV2	11	20066745	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1171	20066745	114939771	631	40269	303	2									
NAV2	89797	broad.mit.edu	37	chr11	20066746	20066746	+	Silent	SNP	C	C	T																															agcggggtgactgtcaccagCaggtcagccacactgggcaa																								rs140697093	by1000genomes	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:20066746C>T	ENST00000396085.1	+	14	3793	c.3432C>T	c.(3430-3432)agC>agT	p.S1144S	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Silent_p.S230S|NAV2_ENST00000527559.2_Silent_p.S1096S|NAV2_ENST00000360655.4_Silent_p.S1080S|NAV2_ENST00000396087.3_Silent_p.S1167S|NAV2_ENST00000540292.1_Silent_p.S1098S|NAV2_ENST00000349880.4_Silent_p.S1144S|NAV2_ENST00000533917.1_Silent_p.S230S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1167						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTGTCACCAGCAGGTCAGCCA	0.577													19	79					0	0	0	0	T	20066746	C	T	20066746	2	4	222	1	0	0	0	0	0	0	0	1	10254	709	25	4		4	NAV2	11	20066746	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1	20066746	114939770	632	40270	303	2									
SLC6A5	9152	broad.mit.edu	37	chr11	20623176	20623176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggatggaatcacgtccGtgctcccgggcagcgtggcc	6	6	14	15	5	1	0	1	0	0	0	3	2	3	2	4	4	2	2	4	4	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:20623176G>T	ENST00000525748.1	+	2	778	c.505G>T	c.(505-507)Gtg>Ttg	p.V169L		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	169					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.V169M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AATCACGTCCGTGCTCCCGGG	0.652													12	31					6.40141e-05	0.000104882	1	0	T	20623176	G	T	20623176	3	4	222	1	0	0	0	0	1	0	0	0	14775	1145	40	3	511	3	SLC6A5	11	20623176	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	556430	20623176	114383340	633	40271											
SLC17A6	57084	broad.mit.edu	37	chr11	22364872	22364872	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggctacatcatcactcagaTtccgggaggctacatcgcgt	9	9	11	12	3	3	1	3	0	0	1	5	2	4	2	1	3	2	2	1	3	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:22364872T>G	ENST00000263160.3	+	3	856	c.419T>G	c.(418-420)aTt>aGt	p.I140S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	140					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATCACTCAGATTCCGGGAGGC	0.577													28	65					0	0	0	0	G	22364872	T	G	22364872	3	3	222	1	0	0	0	0	1	0	0	0	14509	1493	52	5	429	5	SLC17A6	11	22364872	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1741696	22364872	112641644	634	40272											
KCNA4	3739	broad.mit.edu	37	chr11	30033418	30033418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaaagccctcgtcctcccGaaacttcaacagggcctcct	10	7	6	18	2	1	0	1	0	0	0	5	1	4	0	5	1	3	0	5	1	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:30033418G>A	ENST00000328224.6	-	2	2041	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	270						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCGTCCTCCCGAAACTTCAAC	0.512													22	59					0	0	0	0	A	30033418	G	A	30033418	3	1	222	1	0	0	0	0	1	0	0	0	8058	1057	37	1	1157	1	KCNA4	11	30033418	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	7668546	30033418	104973098	635	40273											
CCDC73	493860	broad.mit.edu	37	chr11	32705039	32705039	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacaccaatccccctaagTactaatccagatgggggaaa	17	6	7	11	0	0	1	0	0	0	1	2	2	2	2	4	2	2	1	4	2	7	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:32705039T>A	ENST00000531481.1	-	7	748	c.472A>T	c.(472-474)Act>Tct	p.T158S	CCDC73_ENST00000335185.5_Intron|CCDC73_ENST00000534415.1_Intron			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	0										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCCCCCTAAGTACTAATCCAG	0.323													10	26					0	0	0	0	A	32705039	T	A	32705039	3	1	222	1	0	0	0	0	1	0	0	0	2873	1653	57	5		5	CCDC73	11	32705039	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2671621	32705039	102301477	636	40274											
CKAP5	9793	broad.mit.edu	37	chr11	46822845	46822845	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacatgacattggtgtcctTtccaacaacctacaaagggg	13	9	8	11	0	0	1	0	1	0	0	2	1	2	1	3	3	4	0	3	3	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:46822845T>C	ENST00000529230.1	-	9	1034	c.988A>G	c.(988-990)Aag>Gag	p.K330E	CKAP5_ENST00000312055.5_Missense_Mutation_p.K330E|CKAP5_ENST00000532321.1_5'UTR|CKAP5_ENST00000415402.1_Missense_Mutation_p.K330E|CKAP5_ENST00000354558.3_Missense_Mutation_p.K330E			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	330					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTGGTGTCCTTTCCAACAACC	0.428													16	33					0	0	0	0	C	46822845	T	C	46822845	3	2	222	1	0	0	0	0	1	0	0	0	3475	1850	64	5	5254	5	CKAP5	11	46822845	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	14117806	46822845	88183671	637	40275											
OR4A16	81327	broad.mit.edu	37	chr11	55110887	55110887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcacttatggatgccataTattccactgccatgtcaccc	9	13	6	13	0	2	0	2	0	0	0	3	1	3	1	4	1	2	0	4	1	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55110887T>C	ENST00000314721.2	+	1	261	c.211T>C	c.(211-213)Tat>Cat	p.Y71H		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGATGCCATATATTCCACTGC	0.453													44	111					0	0	0	0	C	55110887	T	C	55110887	3	2	222	1	0	0	0	0	1	0	0	0	11112	1406	49	5	213	5	OR4A16	11	55110887	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	8288042	55110887	79895629	638	40276											
OR4C15	81309	broad.mit.edu	37	chr11	55322574	55322574	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttatctgcatcataaacttCtccttgttgcttgtctccta	7	19	4	11	0	4	0	1	0	3	0	6	0	4	0	2	0	3	3	2	0	4	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55322574C>T	ENST00000314644.2	+	1	792	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCATAAACTTCTCCTTGTTGC	0.483										HNSCC(20;0.049)			28	89					0	0	0	0	T	55322574	C	T	55322574	2	4	222	1	0	0	0	0	0	0	0	1	11119	912	32	2		2	OR4C15	11	55322574	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	211687	55322574	79683942	639	40277											
OR4S2	219431	broad.mit.edu	37	chr11	55419304	55419304	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatgttttcttggaggctAaagggaaatagttggactta	13	13	12	3	0	1	0	0	0	1	0	1	4	1	3	0	4	0	3	0	4	6	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55419304A>G	ENST00000312422.2	+	1	925	c.925A>G	c.(925-927)Aaa>Gaa	p.K309E		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	309					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)				CTTGGAGGCTAAAGGGAAATA	0.363													49	119					0	0	0	0	G	55419304	A	G	55419304	3	3	222	1	0	0	0	0	1	0	0	0	11154	363	13	5	927	5	OR4S2	11	55419304	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	96730	55419304	79587212	640	40278											
OR4C6	219432	broad.mit.edu	37	chr11	55433323	55433323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctccctgaagtcttacagCtctaaagggcggcacaaagc	11	8	10	12	1	2	1	0	1	2	0	3	1	3	1	1	2	4	3	1	2	5	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55433323C>A	ENST00000314259.3	+	1	710	c.681C>A	c.(679-681)agC>agA	p.S227R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AGTCTTACAGCTCTAAAGGGC	0.498													37	99					4.11147e-13	8.22716e-13	1	0	A	55433323	C	A	55433323	3	1	222	1	0	0	0	0	1	0	0	0	11123	796	28	4	683	4	OR4C6	11	55433323	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	14019	55433323	79573193	641	40279											
OR4C6	219432	broad.mit.edu	37	chr11	55433552	55433552	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaactctggatgaaatggGaggctttggctgggaaataa	14	9	14	4	0	1	2	0	1	1	1	1	5	1	5	0	5	1	2	0	5	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55433552G>T	ENST00000314259.3	+	1	939	c.910G>T	c.(910-912)Gag>Tag	p.E304*		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GATGAAATGGGAGGCTTTGGC	0.408													7	36					1.06961e-07	1.90772e-07	1	0	T	55433552	G	T	55433552	4	4	222	1	0	0	0	0	0	1	0	0	11123	1175	41	2	912	2	OR4C6	11	55433552	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	229	55433552	79572964	642	40280											
OR5D16	390144	broad.mit.edu	37	chr11	55606250	55606250	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttctgacagagagaaataCgacatctgaggccacattca	14	9	9	9	1	3	4	1	2	2	2	3	6	3	4	1	1	1	1	1	1	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55606250C>A	ENST00000378396.1	+	1	23	c.23C>A	c.(22-24)aCg>aAg	p.T8K		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GAGAGAAATACGACATCTGAG	0.413													22	42					1.36565e-18	3.06917e-18	1	0	A	55606250	C	A	55606250	3	1	222	1	0	0	0	0	1	0	0	0	11227	536	19	3	25	3	OR5D16	11	55606250	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	172698	55606250	79400266	643	40281											
OR5D16	390144	broad.mit.edu	37	chr11	55607036	55607036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccaactccaaaaactccaGgcacacagtcaaagtggcct	15	5	6	15	0	1	0	1	0	0	0	3	0	3	0	4	2	2	1	4	2	4	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55607036G>T	ENST00000378396.1	+	1	809	c.809G>T	c.(808-810)aGg>aTg	p.R270M		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AAAAACTCCAGGCACACAGTC	0.493													21	67					3.62473e-10	6.86625e-10	1	0	T	55607036	G	T	55607036	3	4	222	1	0	0	0	0	1	0	0	0	11227	1000	35	4	811	4	OR5D16	11	55607036	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	786	55607036	79399480	644	40282											
OR8H3	390152	broad.mit.edu	37	chr11	55890065	55890065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcatttattgacctcAgttactcaactgtcgtcaca	10	14	5	12	1	4	1	4	1	0	0	5	1	4	1	2	0	2	1	2	0	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55890065A>G	ENST00000313472.3	+	1	217	c.217A>G	c.(217-219)Agt>Ggt	p.S73G		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TATTGACCTCAGTTACTCAAC	0.443													85	224					0	0	0	0	G	55890065	A	G	55890065	3	3	222	1	0	0	0	0	1	0	0	0	11310	188	7	5	219	5	OR8H3	11	55890065	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	283029	55890065	79116451	645	40283											
OR8H3	390152	broad.mit.edu	37	chr11	55890212	55890212	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctcctcaatggcctatgatCgctatgcagcgatctgcagt	8	12	9	12	2	3	1	1	1	2	0	5	2	3	1	2	1	3	3	2	1	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55890212C>G	ENST00000313472.3	+	1	364	c.364C>G	c.(364-366)Cgc>Ggc	p.R122G		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GGCCTATGATCGCTATGCAGC	0.463													56	159					0	0	0	0	G	55890212	C	G	55890212	3	3	222	1	0	0	0	0	1	0	0	0	11310	884	31	3	366	3	OR8H3	11	55890212	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	147	55890212	79116304	646	40284											
OR5J2	282775	broad.mit.edu	37	chr11	55944846	55944846	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgctgtgaccatattCtatggtaccttaatctttag	9	16	7	9	0	2	2	0	2	2	0	2	2	2	2	2	1	2	2	2	1	5	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55944846C>A	ENST00000312298.1	+	1	753	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TGACCATATTCTATGGTACCT	0.453													34	92					2.68265e-12	5.26554e-12	1	0	A	55944846	C	A	55944846	3	1	222	1	0	0	0	0	1	0	0	0	11236	912	32	2	755	2	OR5J2	11	55944846	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	54634	55944846	79061670	647	40285											
OR5T2	219464	broad.mit.edu	37	chr11	55999944	55999944	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcgatagagcccacaaagtAgaagagtagaagctggtttg	14	8	12	7	1	0	4	0	0	0	4	1	5	0	4	1	1	2	4	1	1	6	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55999944A>T	ENST00000313264.4	-	1	793	c.718T>A	c.(718-720)Tac>Aac	p.Y240N		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CCCACAAAGTAGAAGAGTAGA	0.438													35	100					0	0	0	0	T	55999944	A	T	55999944	3	4	222	1	0	0	0	0	1	0	0	0	11253	420	15	5	360	5	OR5T2	11	55999944	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	55098	55999944	79006572	648	40286											
OR8K3	219473	broad.mit.edu	37	chr11	56085963	56085963	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttgcaaacccctatgtacTtttttctcagacatctggct	8	15	7	11	0	2	1	1	0	2	1	3	1	2	1	2	2	3	4	2	2	3	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:56085963T>C	ENST00000312711.1	+	1	181	c.181T>C	c.(181-183)Ttt>Ctt	p.F61L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CCCTATGTACTTTTTTCTCAG	0.383													9	180					0	0	0	0	C	56085963	T	C	56085963	3	2	222	1	0	0	0	0	1	0	0	0	11315	1609	56	5	183	5	OR8K3	11	56085963	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	86019	56085963	78920553	649	40287											
OR8K1	390157	broad.mit.edu	37	chr11	56114379	56114379	+	Frame_Shift_Del	DEL	C	C	-																															tgttttataccctgttgattCctatgctgaatccgttgatc																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:56114379delC	ENST00000279783.2	+	1	959	c.865delC	c.(865-867)ctfs	p.P289fs		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CCTGTTGATTCCTATGCTGAA	0.353										HNSCC(65;0.19)			26	90	---	---	---	---					-	56114379	C	-	56114379	7	5	222	1	0	1	0	1	0	0	0	0	11314	855	30	0	867	0	OR8K1	11	56114379	Frame_Shift_Del	DEL	C	TCGA-CR-7402-01A-11D-2012-08	28416	56114379	78892137	650	40288											
OR5R1	219479	broad.mit.edu	37	chr11	56185379	56185379	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctagaaggaaacactcAgtgatcatgaaggtgagaaa	17	6	13	5	0	2	4	2	3	0	2	2	7	2	5	0	3	1	1	0	3	5	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:56185379A>T	ENST00000312253.1	-	1	329	c.330T>A	c.(328-330)acT>acA	p.T110T		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GGAAACACTCAGTGATCATGA	0.453													15	37					0	0	0	0	T	56185379	A	T	56185379	2	4	222	1	0	0	0	0	0	0	0	1	11251	175	7	5		5	OR5R1	11	56185379	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	71000	56185379	78821137	651	40289											
OR5M3	219482	broad.mit.edu	37	chr11	56237806	56237806	+	Silent	SNP	G	G	T																															tgactgaggaaaaagtacatGgggttgttaagctgaggact																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:56237806G>T	ENST00000312240.2	-	1	208	c.168C>A	c.(166-168)ccC>ccA	p.P56P		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AAAAGTACATGGGGTTGTTAA	0.393													18	44					1.33834e-09	2.50361e-09	1	0	T	56237806	G	T	56237806	2	4	222	1	0	0	0	0	0	0	0	1	11246	1335	47	4		4	OR5M3	11	56237806	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	52427	56237806	78768710	652	40290	304	2									
OR5M3	219482	broad.mit.edu	37	chr11	56237807	56237807	+	Missense_Mutation	SNP	G	G	T																															gactgaggaaaaagtacatgGggttgttaagctgaggactg																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:56237807G>T	ENST00000312240.2	-	1	207	c.167C>A	c.(166-168)cCc>cAc	p.P56H		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AAAGTACATGGGGTTGTTAAG	0.398													17	46					6.94344e-10	1.3102e-09	1	0	T	56237807	G	T	56237807	3	4	222	1	0	0	0	0	1	0	0	0	11246	1232	43	4	758	4	OR5M3	11	56237807	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1	56237807	78768709	653	40291	304	2									
OR5M1	390168	broad.mit.edu	37	chr11	56380486	56380486	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagccacagaaggataagtGaaaggttagcagtgactgag	15	6	15	5	0	0	4	0	3	0	1	0	6	0	6	1	3	2	2	1	3	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:56380486G>C	ENST00000526538.1	-	1	492	c.493C>G	c.(493-495)Cac>Gac	p.H165D		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGGATAAGTGAAAGGTTAGC	0.463													20	39					0	0	0	0	C	56380486	G	C	56380486	3	2	222	1	0	0	0	0	1	0	0	0	11243	1290	45	2	458	2	OR5M1	11	56380486	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	142679	56380486	78626030	654	40292											
OR6Q1	219952	broad.mit.edu	37	chr11	57799168	57799168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctctacctgtgcagctcaCctgactgtggtgagcctctt	5	14	9	13	0	3	2	1	2	2	0	4	2	3	2	3	1	4	2	3	1	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:57799168C>A	ENST00000302622.3	+	1	767	c.744C>A	c.(742-744)caC>caA	p.H248Q	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GTGCAGCTCACCTGACTGTGG	0.512													52	139					2.14674e-31	5.27369e-31	1	0	A	57799168	C	A	57799168	3	1	222	1	0	0	0	0	1	0	0	0	11279	506	18	4	746	4	OR6Q1	11	57799168	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1418682	57799168	77207348	655	40293											
OR1S2	219958	broad.mit.edu	37	chr11	57970690	57970690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggcatcaaagggaagaaaTttttctattgatgagctttc	13	13	10	5	0	2	3	1	2	1	1	3	4	2	4	0	2	1	2	0	2	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:57970690T>C	ENST00000302592.6	-	1	963	c.964A>G	c.(964-966)Att>Gtt	p.I322V		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGGGAAGAAATTTTTCTATTG	0.418													55	97					0	0	0	0	C	57970690	T	C	57970690	3	2	222	1	0	0	0	0	1	0	0	0	11044	1493	52	5	16	5	OR1S2	11	57970690	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	171522	57970690	77035826	656	40294											
GLYATL1	92292	broad.mit.edu	37	chr11	58714591	58714591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaataactcccataagctgCtggccctatacaaatccttg	12	11	6	12	0	0	1	0	1	0	0	2	1	2	1	3	1	4	2	3	1	6	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:58714591C>A	ENST00000317391.4	+	4	371	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Intron	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	11						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCATAAGCTGCTGGCCCTATA	0.478													14	28					1.5842e-08	2.88077e-08	1	0	A	58714591	C	A	58714591	3	1	222	1	0	0	0	0	1	0	0	0	6531	812	28	4		4	GLYATL1	11	58714591	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	743901	58714591	76291925	657	40295											
OR4D9	390199	broad.mit.edu	37	chr11	59282896	59282896	+	Frame_Shift_Del	DEL	C	C	-																															tcccactccctttctgtggaCccaatgttcttgacactttc																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:59282896delC	ENST00000329328.3	+	1	511	c.511delC	c.(511-513)ccfs	p.P171fs		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TTTCTGTGGACCCAATGTTCT	0.532													37	103	---	---	---	---					-	59282896	C	-	59282896	7	5	222	1	0	1	0	1	0	0	0	0	11130	507	18	0	513	0	OR4D9	11	59282896	Frame_Shift_Del	DEL	C	TCGA-CR-7402-01A-11D-2012-08	568305	59282896	75723620	658	40296											
MS4A3	932	broad.mit.edu	37	chr11	59829952	59829952	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctttcaggccatccagatCctgaatgcagcaatgattct	10	13	7	11	0	3	3	1	2	2	1	5	3	5	3	3	1	2	2	3	1	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:59829952C>A	ENST00000278865.3	+	3	241	c.168C>A	c.(166-168)atC>atA	p.I56I	MS4A3_ENST00000358152.2_Intron|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	56						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CCATCCAGATCCTGAATGCAG	0.423													30	80					1.30897e-18	2.95199e-18	1	0	A	59829952	C	A	59829952	2	1	222	1	0	0	0	0	0	0	0	1	9931	845	30	2		2	MS4A3	11	59829952	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	547056	59829952	75176564	659	40297											
AHNAK	79026	broad.mit.edu	37	chr11	62289778	62289778	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtccactttggggcccttGatgtcaacttcaggggcctt	6	13	11	11	0	2	1	2	1	0	0	3	1	3	1	3	4	1	0	3	4	1	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:62289778G>C	ENST00000378024.4	-	5	12385	c.12111C>G	c.(12109-12111)atC>atG	p.I4037M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4037					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGGCCCTTGATGTCAACTT	0.493													92	249					0	0	0	0	C	62289778	G	C	62289778	3	2	222	1	0	0	0	0	1	0	0	0	414	1280	45	2	5681	2	AHNAK	11	62289778	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2459826	62289778	72716738	660	40298											
AHNAK	79026	broad.mit.edu	37	chr11	62298691	62298691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaacatctggcaaagacatCttaggagctctgaagtgcat	13	10	9	9	0	4	2	1	1	3	1	4	3	4	3	0	2	3	3	0	2	4	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:62298691C>G	ENST00000378024.4	-	5	3472	c.3198G>C	c.(3196-3198)aaG>aaC	p.K1066N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1066					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCAAAGACATCTTAGGAGCTC	0.443													23	106					0	0	0	0	G	62298691	C	G	62298691	3	3	222	1	0	0	0	0	1	0	0	0	414	912	32	2	14594	2	AHNAK	11	62298691	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	8913	62298691	72707825	661	40299											
PLCB3	5331	broad.mit.edu	37	chr11	64022704	64022704	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgtatactggccccccAggtctggtctgaggagctat	6	10	12	13	1	2	1	0	1	2	0	2	2	2	2	4	4	2	2	4	4	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:64022704A>T	ENST00000540288.1	+	5	490		c.e5-1		PLCB3_ENST00000325234.5_Splice_Site|PLCB3_ENST00000279230.6_Splice_Site	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)						intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CTGGCCCCCCAGGTCTGGTCT	0.627													8	10					0	0	0	0	T	64022704	A	T	64022704	5	4	222	1	0	0	0	0	0	0	1	0	12101	202	7	5	404	5	PLCB3	11	64022704	Splice_Site	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1724013	64022704	70983812	662	40300											
NRXN2	9379	broad.mit.edu	37	chr11	64390225	64390225	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagagtggggcctcacCtgggtggtgctgtccctcag	5	8	15	13	0	2	1	2	0	0	1	3	1	3	1	4	4	2	1	4	4	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:64390225C>A	ENST00000265459.6	-	21	4634	c.4173_splice	c.e21+1	p.Q1391_splice	NRXN2_ENST00000409571.1_Splice_Site_p.Q1384_splice|NRXN2_ENST00000301894.2_Splice_Site_p.Q345_splice|NRXN2_ENST00000377559.3_Splice_Site_p.Q1321_splice|NRXN2_ENST00000377551.1_Splice_Site_p.Q1391_splice	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1391					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGGGCCTCACCTGGGTGGTGC	0.622													13	62					0.00185496	0.00295251	1	0	A	64390225	C	A	64390225	5	1	222	1	0	0	0	0	0	0	1	0	10737	695	24	4	977	4	NRXN2	11	64390225	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	367521	64390225	70616291	663	40301											
CDC42EP2	10435	broad.mit.edu	37	chr11	65088571	65088571	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccacctcctgccggggAccatggtggaggggcctgaa	7	7	15	12	1	0	1	0	1	0	0	2	3	2	3	6	6	1	1	6	6	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:65088571A>G	ENST00000544348.1	+	2	808	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	CDC42EP2_ENST00000533419.1_Missense_Mutation_p.T68A|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.T68A			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	68					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						CCTGCCGGGGACCATGGTGGA	0.647													24	54					0	0	0	0	G	65088571	A	G	65088571	3	3	222	1	0	0	0	0	1	0	0	0	3105	275	10	5	204	5	CDC42EP2	11	65088571	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	698346	65088571	69917945	664	40302											
PACS1	55690	broad.mit.edu	37	chr11	66003368	66003368	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctgtgtctcccaacaGccctgatgaagactcctatc	8	11	6	16	0	2	3	0	2	2	1	6	3	3	3	4	0	2	0	4	0	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:66003368G>A	ENST00000320580.4	+	19	2240		c.e19-1		PACS1_ENST00000529757.1_Splice_Site	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1						interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCTCCCAACAGCCCTGATGAA	0.532													37	115					0	0	0	0	A	66003368	G	A	66003368	5	1	222	1	0	0	0	0	0	0	1	0	11443	985	34	4	2281	4	PACS1	11	66003368	Splice_Site	SNP	G	TCGA-CR-7402-01A-11D-2012-08	914797	66003368	69003148	665	40303											
RBM14	10432	broad.mit.edu	37	chr11	66392979	66392979	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctaccgcggccagccAggcaatgcctacgatggggc	7	5	13	16	3	0	0	0	0	0	0	1	1	1	0	6	4	4	1	6	4	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:66392979A>T	ENST00000310137.4	+	2	1771	c.1632A>T	c.(1630-1632)ccA>ccT	p.P544P	RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000503028.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	544	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGCCAGCCAGGCAATGCCT	0.657													20	46					0	0	0	0	T	66392979	A	T	66392979	2	4	222	1	0	0	0	0	0	0	0	1	13197	175	7	5		5	RBM14	11	66392979	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	389611	66392979	68613537	666	40304											
CORO1B	57175	broad.mit.edu	37	chr11	67206199	67206199	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagtggtggtggaggcGggggcccctaggtgggagga	6	5	23	7	1	0	0	0	0	0	0	0	3	0	3	2	9	1	2	2	9	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:67206199G>T	ENST00000393893.1	-	11	1390	c.1287C>A	c.(1285-1287)ccC>ccA	p.P429P	CORO1B_ENST00000341356.5_Silent_p.P429P|CORO1B_ENST00000539724.1_5'UTR	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	429					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TGGTGGAGGCGGGGGCCCCTA	0.716													3	7					1.23904e-05	2.07179e-05	1	0	T	67206199	G	T	67206199	2	4	222	1	0	0	0	0	0	0	0	1	3784	1103	39	3		3	CORO1B	11	67206199	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	813220	67206199	67800317	667	40305											
CPT1A	1374	broad.mit.edu	37	chr11	68571469	68571469	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctaagccacacctaccCtgttcacagtgtctttgaca	10	10	7	14	0	2	1	1	1	1	0	2	1	2	1	4	1	2	1	4	1	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:68571469C>A	ENST00000265641.5	-	5	708	c.555_splice	c.e5+1	p.R185_splice	CPT1A_ENST00000539743.1_Splice_Site_p.R185_splice|CPT1A_ENST00000540367.1_Splice_Site_p.R185_splice|CPT1A_ENST00000376618.2_Splice_Site_p.R185_splice	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	185					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CACACCTACCCTGTTCACAGT	0.512													21	44					3.8784e-16	8.3789e-16	1	0	A	68571469	C	A	68571469	5	1	222	1	0	0	0	0	0	0	1	0	3861	695	24	4	1867	4	CPT1A	11	68571469	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1365270	68571469	66435047	668	40306											
SLCO2B1	11309	broad.mit.edu	37	chr11	74911282	74911282	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actccaggttttctacaccaActgcagctgcgtggtggagg	8	10	12	11	1	1	0	0	0	1	0	2	1	2	1	2	4	5	3	2	4	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:74911282A>G	ENST00000289575.5	+	11	2008	c.1613A>G	c.(1612-1614)aAc>aGc	p.N538S	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.N394S|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.N311S|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.N283S|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.N311S|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.N516S|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.N422S	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	538	Kazal-like.				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TTCTACACCAACTGCAGCTGC	0.622													19	87					0	0	0	0	G	74911282	A	G	74911282	3	3	222	1	0	0	0	0	1	0	0	0	14815	43	2	5	1655	5	SLCO2B1	11	74911282	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	6339813	74911282	60095234	669	40307											
PCF11	51585	broad.mit.edu	37	chr11	82880066	82880066	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttgagggacctcatggtCagcctgtgggtggacttaga	7	11	16	7	0	2	2	2	1	0	1	2	4	2	4	2	5	1	1	2	5	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:82880066C>T	ENST00000298281.4	+	8	3141	c.2689C>T	c.(2689-2691)Cag>Tag	p.Q897*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	897	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ACCTCATGGTCAGCCTGTGGG	0.552													20	38					0	0	0	0	T	82880066	C	T	82880066	4	4	222	1	0	0	0	0	0	1	0	0	11644	827	29	2	2719	2	PCF11	11	82880066	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	7968784	82880066	52126450	670	40308											
CREBZF	58487	broad.mit.edu	37	chr11	85375697	85375697	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggggagggcgcgcgcaCggccacgccgccgcggctcc	3	2	18	18	9	0	0	0	0	0	0	2	1	1	1	4	5	0	2	4	5	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:85375697C>A	ENST00000527447.1	-	1	449	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L	CREBZF_ENST00000398294.2_5'UTR|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	75					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GGCGCGCGCACGGCCACGCCG	0.706													38	76					2.05212e-20	4.73734e-20	1	0	A	85375697	C	A	85375697	3	1	222	1	0	0	0	0	1	0	0	0	3893	536	19	3	845	3	CREBZF	11	85375697	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2495631	85375697	49630819	671	40309											
SYTL2	54843	broad.mit.edu	37	chr11	85420476	85420476	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatattcaattgcaaacTgaatatttcctttaacttcc	13	15	2	11	0	1	1	1	1	0	0	3	1	3	1	3	0	3	1	3	0	6	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:85420476T>A	ENST00000359152.5	-	6	4435	c.4436A>T	c.(4435-4437)cAg>cTg	p.Q1479L	SYTL2_ENST00000527523.1_Missense_Mutation_p.Q601L|SYTL2_ENST00000524452.1_Missense_Mutation_p.Q609L|SYTL2_ENST00000525423.1_Missense_Mutation_p.Q955L|SYTL2_ENST00000389960.4_Missense_Mutation_p.Q609L|SYTL2_ENST00000533892.1_Missense_Mutation_p.Q35L|SYTL2_ENST00000389958.3_Missense_Mutation_p.Q64L|SYTL2_ENST00000525702.1_Missense_Mutation_p.Q75L|SYTL2_ENST00000529581.1_Missense_Mutation_p.Q75L|SYTL2_ENST00000354566.3_Missense_Mutation_p.Q971L|SYTL2_ENST00000316356.4_Missense_Mutation_p.Q634L|SYTL2_ENST00000528231.1_Missense_Mutation_p.Q633L	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	633					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AATTGCAAACTGAATATTTCC	0.413													25	65					0	0	0	0	A	85420476	T	A	85420476	3	1	222	1	0	0	0	0	1	0	0	0	15574	1580	55	5	934	5	SYTL2	11	85420476	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	44779	85420476	49586040	672	40310											
SYTL2	54843	broad.mit.edu	37	chr11	85436429	85436429	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcttggggagggctggcCacatccccaaaagaaccctt	11	8	10	12	0	1	1	0	0	1	1	2	2	2	2	4	4	1	1	4	4	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:85436429C>A	ENST00000359152.5	-	1	2642	c.2643G>T	c.(2641-2643)gtG>gtT	p.V881V	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Silent_p.V357V|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Silent_p.V357V|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAGGGCTGGCCACATCCCCAA	0.493													14	36					9.31168e-06	1.56773e-05	1	0	A	85436429	C	A	85436429	2	1	222	1	0	0	0	0	0	0	0	1	15574	581	21	4		4	SYTL2	11	85436429	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	15953	85436429	49570087	673	40311											
FAT3	120114	broad.mit.edu	37	chr11	92531613	92531613	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaccggaatgctctgcttGtgtatcagattgtggagtca	9	12	12	8	1	3	1	2	0	1	1	3	3	3	3	1	2	3	4	1	2	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:92531613G>C	ENST00000298047.6	+	9	5451	c.5434G>C	c.(5434-5436)Gtg>Ctg	p.V1812L	FAT3_ENST00000525166.1_Missense_Mutation_p.V1662L|FAT3_ENST00000409404.2_Missense_Mutation_p.V1812L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1812	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCTCTGCTTGTGTATCAGAT	0.478										TCGA Ovarian(4;0.039)			10	23					0	0	0	0	C	92531613	G	C	92531613	3	2	222	1	0	0	0	0	1	0	0	0	5736	1377	48	4	5468	4	FAT3	11	92531613	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	7095184	92531613	42474903	674	40312											
FAT3	120114	broad.mit.edu	37	chr11	92533403	92533403	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgtgagtgaattagccccCcggggccattttgtaacctg	8	12	11	10	1	0	2	0	2	0	0	0	2	0	2	5	2	2	1	5	2	4	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:92533403C>G	ENST00000298047.6	+	9	7241	c.7224C>G	c.(7222-7224)ccC>ccG	p.P2408P	FAT3_ENST00000525166.1_Silent_p.P2258P|FAT3_ENST00000409404.2_Silent_p.P2408P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2408	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.P2408P(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATTAGCCCCCCGGGGCCATT	0.443										TCGA Ovarian(4;0.039)			42	89					0	0	0	0	G	92533403	C	G	92533403	2	3	222	1	0	0	0	0	0	0	0	1	5736	610	22	4		4	FAT3	11	92533403	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1790	92533403	42473113	675	40313											
TRPC6	7225	broad.mit.edu	37	chr11	101344380	101344380	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcttccaagtgatatctgCagaggtccaaagctttcatt	10	14	8	9	0	3	2	1	1	2	1	5	2	5	2	2	1	2	3	2	1	3	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:101344380C>G	ENST00000344327.3	-	7	2293	c.1869G>C	c.(1867-1869)ctG>ctC	p.L623L	TRPC6_ENST00000532133.1_Silent_p.L545L|TRPC6_ENST00000360497.4_Silent_p.L568L|TRPC6_ENST00000348423.4_Silent_p.L507L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	623					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTGATATCTGCAGAGGTCCAA	0.348													17	60					0	0	0	0	G	101344380	C	G	101344380	2	3	222	1	0	0	0	0	0	0	0	1	16678	697	25	4		4	TRPC6	11	101344380	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	8810977	101344380	33662136	676	40314											
KIAA1377	57562	broad.mit.edu	37	chr11	101834193	101834193	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcctcaatctacatcaaaTattagaagtggtaaaaatat	17	12	4	8	0	3	1	2	0	1	1	4	1	4	1	2	1	1	1	2	1	10	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:101834193T>C	ENST00000263468.8	+	6	2697	c.2427T>C	c.(2425-2427)aaT>aaC	p.N809N	KIAA1377_ENST00000537689.1_Silent_p.N610N	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	809							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTACATCAAATATTAGAAGTG	0.348													9	28					0	0	0	0	C	101834193	T	C	101834193	2	2	222	1	0	0	0	0	0	0	0	1	8278	1403	49	5		5	KIAA1377	11	101834193	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	489813	101834193	33172323	677	40315											
MMP20	9313	broad.mit.edu	37	chr11	102477375	102477375	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatggggggcatggggcaGagtgggcttccccaggaata	8	7	19	7	0	0	2	0	1	0	1	1	3	1	3	2	7	0	3	2	7	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:102477375G>C	ENST00000260228.2	-	6	856	c.844C>G	c.(844-846)Ctg>Gtg	p.L282V	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	282					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GCATGGGGCAGAGTGGGCTTC	0.522													19	47					0	0	0	0	C	102477375	G	C	102477375	3	2	222	1	0	0	0	0	1	0	0	0	9728	933	33	2	627	2	MMP20	11	102477375	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	643182	102477375	32529141	678	40316											
DDI1	414301	broad.mit.edu	37	chr11	103908508	103908508	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttacagtgctctttctccAtacttgaggatcaacccatg	9	14	6	12	0	4	1	1	1	3	0	5	2	4	2	2	1	4	1	2	1	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:103908508A>G	ENST00000302259.3	+	1	1201	c.958A>G	c.(958-960)Ata>Gta	p.I320V	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	320					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTCTTTCTCCATACTTGAGGA	0.453													32	60					0	0	0	0	G	103908508	A	G	103908508	3	3	222	1	0	0	0	0	1	0	0	0	4360	217	8	5	960	5	DDI1	11	103908508	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1431133	103908508	31098008	679	40317											
KBTBD3	143879	broad.mit.edu	37	chr11	105925058	105925058	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacatttccacattatCatctgttatttttgtttttc	10	20	4	7	0	2	1	1	0	1	1	4	2	3	1	1	0	1	2	1	0	4	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:105925058C>A	ENST00000526793.1	-	3	517	c.358G>T	c.(358-360)Gat>Tat	p.D120Y	KBTBD3_ENST00000534815.1_Missense_Mutation_p.D41Y|KBTBD3_ENST00000531837.1_Missense_Mutation_p.D120Y	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	116										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TCCACATTATCATCTGTTATT	0.328													8	25					0.00307968	0.00486226	1	0	A	105925058	C	A	105925058	3	1	222	1	0	0	0	0	1	0	0	0	8047	826	29	2	1484	2	KBTBD3	11	105925058	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2016550	105925058	29081458	680	40318											
CWF19L2	143884	broad.mit.edu	37	chr11	107224343	107224343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcagcaagactccgatgCtcagcaatagcttttttcct	9	13	8	11	1	1	1	1	0	0	1	3	2	3	1	2	0	5	5	2	0	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:107224343C>A	ENST00000282251.5	-	13	2019	c.1992G>T	c.(1990-1992)gaG>gaT	p.E664D	CWF19L2_ENST00000433523.1_Missense_Mutation_p.E664D	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	664							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GACTCCGATGCTCAGCAATAG	0.413													24	53					2.21704e-12	4.36039e-12	1	0	A	107224343	C	A	107224343	3	1	222	1	0	0	0	0	1	0	0	0	4104	796	28	4	716	4	CWF19L2	11	107224343	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1299285	107224343	27782173	681	40319											
ZBTB16	7704	broad.mit.edu	37	chr11	113934661	113934661	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgaccataggacagtctctCctgcagggaactcttcagcc	10	9	9	13	0	3	1	1	1	2	0	5	3	4	3	3	2	3	1	3	2	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:113934661C>G	ENST00000335953.4	+	2	1019	c.639C>G	c.(637-639)ctC>ctG	p.L213L	ZBTB16_ENST00000392996.2_Silent_p.L213L	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	213					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GACAGTCTCTCCTGCAGGGAA	0.597													15	33					0	0	0	0	G	113934661	C	G	113934661	2	3	222	1	0	0	0	0	0	0	0	1	17621	842	30	2		2	ZBTB16	11	113934661	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	6710318	113934661	21071855	682	40320											
CADM1	23705	broad.mit.edu	37	chr11	115080341	115080341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtggtggtggtggtggtgGtggttgttgtgggaggaggg	2	13	26	0	0	0	0	0	0	0	0	0	2	0	2	0	11	0	2	0	11	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:115080341G>T	ENST00000537058.1	-	8	1051	c.1031C>A	c.(1030-1032)aCc>aAc	p.T344N	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Missense_Mutation_p.T344N|CADM1_ENST00000452722.2_Missense_Mutation_p.T344N			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	344				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ggtggtggtggtggttgttgt	0.438													14	38					4.3838e-07	7.67165e-07	1	0	T	115080341	G	T	115080341	3	4	222	1	0	0	0	0	1	0	0	0	2591	1261	44	4	309	4	CADM1	11	115080341	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1145680	115080341	19926175	683	40321											
DSCAML1	57453	broad.mit.edu	37	chr11	117303127	117303127	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctctggatgagggttGggtggtgcaaggagacgcca	7	9	18	7	1	1	2	0	1	1	1	1	4	1	3	1	5	2	3	1	5	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:117303127G>C	ENST00000321322.6	-	30	5301	c.5300C>G	c.(5299-5301)cCa>cGa	p.P1767R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1497R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1707					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GATGAGGGTTGGGTGGTGCAA	0.577													14	35					0	0	0	0	C	117303127	G	C	117303127	3	2	222	1	0	0	0	0	1	0	0	0	4805	1348	47	4	1057	4	DSCAML1	11	117303127	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2222786	117303127	17703389	684	40322											
DSCAML1	57453	broad.mit.edu	37	chr11	117332289	117332289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatggacagggcccggaCgttctcagggggctggctgg	6	7	19	9	2	1	1	1	1	1	0	2	3	1	3	1	7	0	3	1	7	0	1	rs142275732		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:117332289C>A	ENST00000321322.6	-	18	3470	c.3469G>T	c.(3469-3471)Gtc>Ttc	p.V1157F	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V887F	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1097	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGGCCCGGACGTTCTCAGGG	0.612													17	47					2.4624e-09	4.57135e-09	1	0	A	117332289	C	A	117332289	3	1	222	1	0	0	0	0	1	0	0	0	4805	536	19	3	2936	3	DSCAML1	11	117332289	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	29162	117332289	17674227	685	40323											
THY1	7070	broad.mit.edu	37	chr11	119290994	119290994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgaactcgtactggatgGgtgaactgctggtattctca	8	12	13	8	1	1	2	1	2	1	0	3	3	1	3	0	4	4	4	0	4	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:119290994G>T	ENST00000284240.5	-	3	1179	c.140C>A	c.(139-141)cCc>cAc	p.P47H	USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000498979.2_RNA|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000527590.1_5'UTR|THY1_ENST00000580275.1_Missense_Mutation_p.P30H|USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000528522.1_Missense_Mutation_p.P47H	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	47	Ig-like V-type.				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity	p.P47H(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		GTACTGGATGGGTGAACTGCT	0.587													38	96					1.49673e-21	3.50074e-21	1	0	T	119290994	G	T	119290994	3	4	222	1	0	0	0	0	1	0	0	0	15979	1232	43	4	353	4	THY1	11	119290994	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1958705	119290994	15715522	686	40324											
POU2F3	25833	broad.mit.edu	37	chr11	120180221	120180221	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtctggttctgcaacCgacgccaaaaggagaagcga	12	6	14	9	3	2	2	0	1	2	1	2	5	2	2	2	3	3	2	2	3	4	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:120180221C>A	ENST00000260264.4	+	10	1034	c.1000C>A	c.(1000-1002)Cga>Aga	p.R334R	POU2F3_ENST00000543440.2_Silent_p.R332R	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	332					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	p.R332*(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GTTCTGCAACCGACGCCAAAA	0.557													19	41					1.33834e-09	2.50361e-09	1	0	A	120180221	C	A	120180221	2	1	222	1	0	0	0	0	0	0	0	1	12344	644	23	3		3	POU2F3	11	120180221	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	889227	120180221	14826295	687	40325											
TECTA	7007	broad.mit.edu	37	chr11	120998532	120998532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccccgacacatgctccGacctgacggcctcgcggaac	7	5	11	18	5	0	1	0	1	0	0	2	4	1	2	5	2	3	2	5	2	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:120998532G>T	ENST00000392793.1	+	9	2117	c.1846G>T	c.(1846-1848)Gac>Tac	p.D616Y	TECTA_ENST00000264037.2_Missense_Mutation_p.D616Y			O75443	TECTA_HUMAN	tectorin alpha	616	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CACATGCTCCGACCTGACGGC	0.642													26	70					1.5548e-18	3.47826e-18	1	0	T	120998532	G	T	120998532	3	4	222	1	0	0	0	0	1	0	0	0	15841	1058	37	3	1876	3	TECTA	11	120998532	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	818311	120998532	14007984	688	40326											
SORL1	6653	broad.mit.edu	37	chr11	121495940	121495940	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgcctttttggcaaccaGatctgtggggagcctgccat	8	11	12	10	0	1	2	0	0	1	2	1	3	1	3	4	3	4	1	4	3	1	2	rs149393026	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:121495940G>C	ENST00000260197.7	+	46	6447	c.6318G>C	c.(6316-6318)caG>caC	p.Q2106H	SORL1_ENST00000534286.1_Missense_Mutation_p.Q1016H|SORL1_ENST00000532694.1_Missense_Mutation_p.Q952H|SORL1_ENST00000525532.1_Missense_Mutation_p.Q1050H|SORL1_ENST00000527934.1_Missense_Mutation_p.Q721H	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2106	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTGGCAACCAGATCTGTGGGG	0.468													23	70					0	0	0	0	C	121495940	G	C	121495940	3	2	222	1	0	0	0	0	1	0	0	0	15022	933	33	2	6500	2	SORL1	11	121495940	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	497408	121495940	13510576	689	40327											
OR6X1	390260	broad.mit.edu	37	chr11	123624645	123624645	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgctatgacgcccaggagTtccaaaatgctggtgtctat	9	12	11	9	1	1	1	0	1	1	0	2	2	2	2	2	2	2	4	2	2	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:123624645T>A	ENST00000327930.2	-	1	608	c.582A>T	c.(580-582)gaA>gaT	p.E194D		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CGCCCAGGAGTTCCAAAATGC	0.438													28	70					0	0	0	0	A	123624645	T	A	123624645	3	1	222	1	0	0	0	0	1	0	0	0	11283	1722	60	5	358	5	OR6X1	11	123624645	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2128705	123624645	11381871	690	40328											
OR8B3	390271	broad.mit.edu	37	chr11	124266529	124266529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgacatgagagctacaaGtactgaaggcttttgatctt	13	12	9	7	0	1	4	0	4	1	1	1	5	1	4	0	1	3	3	0	1	5	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:124266529G>A	ENST00000354597.3	-	1	735	c.719C>T	c.(718-720)aCt>aTt	p.T240I		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGAGCTACAAGTACTGAAGGC	0.383													24	92					0	0	0	0	A	124266529	G	A	124266529	3	1	222	1	0	0	0	0	1	0	0	0	11299	1029	36	4	224	4	OR8B3	11	124266529	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	641884	124266529	10739987	691	40329											
OR8B8	26493	broad.mit.edu	37	chr11	124310451	124310451	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggaaggatgtcacacatGtagtggttgacaaggttatt	12	11	14	4	0	1	1	1	1	0	0	1	3	1	3	0	5	0	3	0	5	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:124310451G>A	ENST00000328064.2	-	1	603	c.531C>T	c.(529-531)taC>taT	p.Y177Y		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGTCACACATGTAGTGGTTGA	0.502													26	54					0	0	0	0	A	124310451	G	A	124310451	2	1	222	1	0	0	0	0	0	0	0	1	11301	1372	48	4		4	OR8B8	11	124310451	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	43922	124310451	10696065	692	40330											
ROBO4	54538	broad.mit.edu	37	chr11	124756439	124756439	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccagggcccgggcaaaGtgagcatcagcgaggaagga	12	3	16	10	2	1	1	1	1	0	0	1	4	1	3	2	4	3	2	2	4	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:124756439G>C	ENST00000306534.3	-	16	3200	c.2715C>G	c.(2713-2715)caC>caG	p.H905Q	ROBO4_ENST00000533054.1_Missense_Mutation_p.H760Q|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	905					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCCGGGCAAAGTGAGCATCAG	0.602													13	51					0	0	0	0	C	124756439	G	C	124756439	3	2	222	1	0	0	0	0	1	0	0	0	13601	1020	36	4	320	4	ROBO4	11	124756439	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	445988	124756439	10250077	693	40331											
ROBO4	54538	broad.mit.edu	37	chr11	124765699	124765699	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttccagctgagccacacCgccggtctaggcttggggcc	6	7	12	16	2	1	1	0	1	1	0	2	1	2	1	6	4	2	2	6	4	1	3	rs143848676		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:124765699C>G	ENST00000306534.3	-	5	1274	c.789G>C	c.(787-789)gcG>gcC	p.A263A	ROBO4_ENST00000533054.1_Silent_p.A118A|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	263	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGAGCCACACCGCCGGTCTAG	0.597													36	46					0	0	0	0	G	124765699	C	G	124765699	2	3	222	1	0	0	0	0	0	0	0	1	13601	639	23	3		3	ROBO4	11	124765699	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	9260	124765699	10240817	694	40332											
SNX19	399979	broad.mit.edu	37	chr11	130773227	130773227	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccatttccactgttctgtTagtagcaagaggagcagatc	11	11	10	9	0	1	2	0	0	1	2	3	3	2	3	2	1	3	5	2	1	3	4	rs138603150		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:130773227T>C	ENST00000265909.4	-	8	3065	c.2496A>G	c.(2494-2496)ctA>ctG	p.L832L	SNX19_ENST00000528555.1_Silent_p.L212L|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000534726.1_Silent_p.L72L|SNX19_ENST00000530356.1_Silent_p.L212L|SNX19_ENST00000539184.1_Silent_p.L275L|SNX19_ENST00000545537.1_Silent_p.L72L	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	832					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACTGTTCTGTTAGTAGCAAGA	0.448													12	34					0	0	0	0	C	130773227	T	C	130773227	2	2	222	1	0	0	0	0	0	0	0	1	14978	1741	61	5		5	SNX19	11	130773227	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	6007528	130773227	4233289	695	40333											
IGSF9B	22997	broad.mit.edu	37	chr11	133794770	133794770	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcagatcctgcatgacGgccagaacccggaactcata	12	7	9	13	2	2	4	2	2	0	2	3	5	3	5	3	2	3	1	3	2	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:133794770G>T	ENST00000321016.8	-	15	2294	c.2064C>A	c.(2062-2064)gcC>gcA	p.A688A	IGSF9B_ENST00000533871.2_Silent_p.A688A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	688	Fibronectin type-III 2.					integral to membrane|plasma membrane		p.A688A(1)|p.A144A(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCTGCATGACGGCCAGAACCC	0.577													37	134					3.09479e-21	7.20396e-21	1	0	T	133794770	G	T	133794770	2	4	222	1	0	0	0	0	0	0	0	1	7659	1103	39	3		3	IGSF9B	11	133794770	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3021543	133794770	1211746	696	40334											
WNT5B	81029	broad.mit.edu	37	chr12	1755062	1755062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccgagttccgcaaggtcGgggaccggctgaaggagaag	9	5	18	9	4	0	2	0	1	0	1	2	5	1	3	3	6	0	3	3	6	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:1755062G>T	ENST00000397196.2	+	5	956	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	WNT5B_ENST00000310594.3_Missense_Mutation_p.G242W|WNT5B_ENST00000537031.1_Missense_Mutation_p.G242W|WNT5B_ENST00000542408.1_3'UTR|WNT5B_ENST00000545747.1_3'UTR	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	242					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CCGCAAGGTCGGGGACCGGCT	0.662													28	50					6.12954e-19	1.39036e-18	1	0	T	1755062	G	T	1755062	3	4	222	1	0	0	0	0	1	0	0	0	17488	1116	39	3	738	3	WNT5B	12	1755062	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08		1755062	132096833	697	40335											
CD163	9332	broad.mit.edu	37	chr12	7653975	7653975	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccattattacacaccgttcCccactcctcctggactttca	8	12	4	17	1	1	0	1	0	0	0	4	1	4	1	6	1	1	1	6	1	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:7653975C>G	ENST00000359156.4	-	3	419	c.217G>C	c.(217-219)Gga>Cga	p.G73R	CD163_ENST00000396620.3_Missense_Mutation_p.G73R|CD163_ENST00000541972.1_Missense_Mutation_p.G61R|CD163_ENST00000432237.2_Missense_Mutation_p.G73R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	73	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CACACCGTTCCCCACTCCTCC	0.502													36	95					0	0	0	0	G	7653975	C	G	7653975	3	3	222	1	0	0	0	0	1	0	0	0	2996	632	22	4	3309	4	CD163	12	7653975	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	5898913	7653975	126197920	698	40336											
RIMKLB	57494	broad.mit.edu	37	chr12	8866600	8866600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactttagggctgtggtgatGgatgaggtggtgctgacaat	8	12	17	4	0	0	3	0	3	0	0	0	5	0	4	0	5	1	2	0	5	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:8866600G>T	ENST00000357529.3	+	3	1400	c.138G>T	c.(136-138)atG>atT	p.M46I	RIMKLB_ENST00000535829.1_Missense_Mutation_p.M46I|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000538135.1_Missense_Mutation_p.M46I	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	46					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTGTGGTGATGGATGAGGTGG	0.428													17	26					5.01169e-05	8.22507e-05	1	0	T	8866600	G	T	8866600	3	4	222	1	0	0	0	0	1	0	0	0	13451	1348	47	4	140	4	RIMKLB	12	8866600	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1212625	8866600	124985295	699	40337											
PRH1	5554	broad.mit.edu	37	chr12	11034876	11034876	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggtccttgtgggcggccCccttggggaggtggtccctg	2	9	19	11	1	0	0	0	0	0	0	2	2	2	2	4	8	0	0	4	8	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:11034876C>A	ENST00000428168.2	-	4	496	c.459G>T	c.(457-459)ggG>ggT	p.G153G	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	153						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		GTGGGCGGCCCCCTTGGGGAG	0.587													32	107					4.75821e-42	1.18834e-41	1	0	A	11034876	C	A	11034876	2	1	222	1	0	0	0	0	0	0	0	1	12562	610	22	4		4	PRH1	12	11034876	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2168276	11034876	122817019	700	40338											
GUCY2C	2984	broad.mit.edu	37	chr12	14796620	14796620	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatggacttctgtcttactGgagtgcagatatgacattcc	9	13	9	10	0	2	2	0	1	2	1	3	4	3	4	2	2	2	1	2	2	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:14796620G>T	ENST00000261170.3	-	17	1954	c.1818C>A	c.(1816-1818)tcC>tcA	p.S606S		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	606	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTGTCTTACTGGAGTGCAGAT	0.373													20	89					2.37509e-13	4.78695e-13	1	0	T	14796620	G	T	14796620	2	4	222	1	0	0	0	0	0	0	0	1	6946	1335	47	4		4	GUCY2C	12	14796620	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3761744	14796620	119055275	701	40339											
PIK3C2G	5288	broad.mit.edu	37	chr12	18435606	18435606	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaataaaaggagtggacaTgtgaacattgtggaaccatc	16	8	12	5	0	0	2	0	1	0	1	1	6	0	5	1	3	2	0	1	3	5	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:18435606T>C	ENST00000433979.1	+	2	707	c.591T>C	c.(589-591)caT>caC	p.H197H	PIK3C2G_ENST00000535651.1_Silent_p.H197H|PIK3C2G_ENST00000266497.5_Silent_p.H197H|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Silent_p.H197H	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	197					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGAGTGGACATGTGAACATTG	0.383													48	130					0	0	0	0	C	18435606	T	C	18435606	2	2	222	1	0	0	0	0	0	0	0	1	11983	1461	51	5		5	PIK3C2G	12	18435606	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	3638986	18435606	115416289	702	40340											
SLCO1B1	10599	broad.mit.edu	37	chr12	21349914	21349914	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actcctactgattctcgatgGgttggagcttggtggcttaa	7	14	12	8	1	1	1	0	1	1	0	3	3	2	2	1	4	2	3	1	4	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:21349914G>A	ENST00000256958.2	+	8	858	c.762G>A	c.(760-762)tgG>tgA	p.W254*		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	254					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATTCTCGATGGGTTGGAGCTT	0.358													40	96					0	0	0	0	A	21349914	G	A	21349914	4	1	222	1	0	0	0	0	0	1	0	0	14811	1241	43	4	788	4	SLCO1B1	12	21349914	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2914308	21349914	112501981	703	40341											
CASC1	55259	broad.mit.edu	37	chr12	25343548	25343548	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaaaaattctacatacCttttttgctttgggacccta	12	16	5	8	0	1	1	0	1	1	0	1	2	1	2	2	1	3	1	2	1	6	9			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:25343548C>G	ENST00000354189.5	-	2	230	c.195_splice	c.e2+1	p.K65_splice	CASC1_ENST00000557684.1_Intron|CASC1_ENST00000545133.1_Intron|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000395987.3_Splice_Site_p.K7_splice|CASC1_ENST00000395990.2_5'UTR|CASC1_ENST00000320267.9_Intron	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	0	Glu-rich.									breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTCTACATACCTTTTTTGCTT	0.234													18	39					0	0	0	0	G	25343548	C	G	25343548	5	3	222	1	0	0	0	0	0	0	1	0	2685	695	24	4	2207	4	CASC1	12	25343548	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3993634	25343548	108508347	704	40342											
OVCH1	341350	broad.mit.edu	37	chr12	29631793	29631793	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcactccactgcttgatcgTaaagatacatagtcatgatc	13	11	7	10	1	1	3	1	2	0	1	4	3	2	3	1	0	3	3	1	0	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:29631793T>C	ENST00000318184.5	-	9	1043	c.1044A>G	c.(1042-1044)ttA>ttG	p.L348L	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	348	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGCTTGATCGTAAAGATACAT	0.303													8	25					0	0	0	0	C	29631793	T	C	29631793	2	2	222	1	0	0	0	0	0	0	0	1	11394	1635	57	5		5	OVCH1	12	29631793	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	4288245	29631793	104220102	705	40343											
LRRK2	120892	broad.mit.edu	37	chr12	40651127	40651127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagaagcatatacattctCctgaagtggctgaaagtggc	12	10	11	8	0	1	3	0	2	1	1	2	3	1	3	1	2	3	3	1	2	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:40651127C>A	ENST00000298910.7	+	12	1424	c.1366C>A	c.(1366-1368)Cct>Act	p.P456T	LRRK2_ENST00000343742.2_Missense_Mutation_p.P456T	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	456					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TATACATTCTCCTGAAGTGGC	0.313													30	59					3.73148e-12	7.3095e-12	1	0	A	40651127	C	A	40651127	3	1	222	1	0	0	0	0	1	0	0	0	9097	855	30	2	1412	2	LRRK2	12	40651127	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	11019334	40651127	93200768	706	40344											
LRRK2	120892	broad.mit.edu	37	chr12	40692113	40692113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatttccttcttatttgttGaaaatgagttgtattgctaa	10	20	6	5	0	2	2	1	2	1	0	3	2	3	2	1	0	1	4	1	0	5	9			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:40692113G>C	ENST00000298910.7	+	24	3223	c.3165G>C	c.(3163-3165)ttG>ttC	p.L1055F	LRRK2_ENST00000343742.2_Missense_Mutation_p.L1055F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1055					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTATTTGTTGAAAATGAGTT	0.333													15	41					0	0	0	0	C	40692113	G	C	40692113	3	2	222	1	0	0	0	0	1	0	0	0	9097	1281	45	2	3259	2	LRRK2	12	40692113	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	40986	40692113	93159782	707	40345											
DBX2	440097	broad.mit.edu	37	chr12	45429829	45429829	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtggaggatgcagggcGccgacaggacccaccgcagc	10	2	16	13	3	0	0	0	0	0	0	0	4	0	3	3	4	3	3	3	4	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:45429829G>C	ENST00000332700.6	-	2	643	c.472C>G	c.(472-474)Cgc>Ggc	p.R158G		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		gatgcagggcgccgacaggac	0.493													6	13					0	0	0	0	C	45429829	G	C	45429829	3	2	222	1	0	0	0	0	1	0	0	0	4293	1087	38	3	559	3	DBX2	12	45429829	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4737716	45429829	88422066	708	40346											
NCKAP5L	57701	broad.mit.edu	37	chr12	50186272	50186272	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgtcggggtgggcacAtgagagggtccgaggagctg	7	7	19	8	2	0	1	0	1	0	1	2	4	1	2	2	5	1	3	2	5	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:50186272A>G	ENST00000335999.6	-	12	3950	c.3749T>C	c.(3748-3750)aTg>aCg	p.M1250T		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1246	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGGTGGGCACATGAGAGGGTC	0.632													8	27					0	0	0	0	G	50186272	A	G	50186272	3	3	222	1	0	0	0	0	1	0	0	0	10294	217	8	5	263	5	NCKAP5L	12	50186272	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	4756443	50186272	83665623	709	40347											
LARP4	113251	broad.mit.edu	37	chr12	50847384	50847384	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtatataatcctcaccaaCagtactcggtctatagtatt	12	14	5	10	1	2	0	1	0	1	0	4	0	3	0	2	1	2	3	2	1	8	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:50847384C>G	ENST00000398473.2	+	9	1058	c.946C>G	c.(946-948)Cag>Gag	p.Q316E	LARP4_ENST00000518444.1_Missense_Mutation_p.Q315E|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000518561.1_Missense_Mutation_p.Q246E|LARP4_ENST00000522085.1_Missense_Mutation_p.Q316E|LARP4_ENST00000429001.3_Missense_Mutation_p.Q322E|LARP4_ENST00000293618.8_Missense_Mutation_p.Q316E	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	316							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TCCTCACCAACAGTACTCGGT	0.393													27	81					0	0	0	0	G	50847384	C	G	50847384	3	3	222	1	0	0	0	0	1	0	0	0	8683	479	17	4	980	4	LARP4	12	50847384	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	661112	50847384	83004511	710	40348											
ATF1	466	broad.mit.edu	37	chr12	51213453	51213453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgcagaaagaagaaagAatatgtgaaatgcctggaaa	19	7	11	4	1	0	5	0	1	0	4	1	6	0	6	1	1	1	1	1	1	7	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:51213453A>G	ENST00000262053.3	+	7	729	c.707A>G	c.(706-708)gAa>gGa	p.E236G	ATF1_ENST00000539132.1_Missense_Mutation_p.E101G	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	236					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						AAGAAGAAAGAATATGTGAAA	0.308			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "								21	26					0	0	0	0	G	51213453	A	G	51213453	3	3	222	1	0	0	0	0	1	0	0	0	1083	246	9	5	729	5	ATF1	12	51213453	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	366069	51213453	82638442	711	40349											
KRT79	338785	broad.mit.edu	37	chr12	53227940	53227940	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccgagacaccgtcacTgagctgaagctggtgcgggc	7	7	14	13	3	1	3	1	2	0	1	2	4	2	3	2	2	4	3	2	2	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:53227940T>C	ENST00000330553.5	-	1	139	c.105A>G	c.(103-105)tcA>tcG	p.S35S		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	35	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACACCGTCACTGAGCTGAAGC	0.647													18	42					0	0	0	0	C	53227940	T	C	53227940	2	2	222	1	0	0	0	0	0	0	0	1	8544	1567	55	5		5	KRT79	12	53227940	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2014487	53227940	80623955	712	40350											
KRT78	196374	broad.mit.edu	37	chr12	53233651	53233651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcacagcagccgggccaGgttctgcttggccatcctca	6	8	11	16	2	2	0	1	0	1	0	4	0	3	0	4	3	3	4	4	3	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:53233651G>T	ENST00000359499.4	-	7	846	c.835C>A	c.(835-837)Ctg>Atg	p.L279M	KRT78_ENST00000304620.4_Missense_Mutation_p.L389M			Q8N1N4	K2C78_HUMAN	keratin 78	389	Linker 12.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AGCCGGGCCAGGTTCTGCTTG	0.637													20	50					7.21436e-19	1.63264e-18	1	0	T	53233651	G	T	53233651	3	4	222	1	0	0	0	0	1	0	0	0	8543	991	35	4	409	4	KRT78	12	53233651	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5711	53233651	80618244	713	40351											
KRT18	3875	broad.mit.edu	37	chr12	53346565	53346565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccaaaagaccaccacccGccggatagtggatggcaaag	14	4	10	13	2	0	1	0	0	0	1	1	3	1	3	5	3	0	1	5	3	4	1	rs148580152		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:53346565G>A	ENST00000388835.3	+	7	1442	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	KRT18_ENST00000388837.2_Missense_Mutation_p.R411H|KRT18_ENST00000550600.1_3'UTR	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	411	Tail.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ACCACCACCCGCCGGATAGTG	0.532													24	48					0	0	0	0	A	53346565	G	A	53346565	3	1	222	1	0	0	0	0	1	0	0	0	8507	1087	38	1	1258	1	KRT18	12	53346565	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	112914	53346565	80505330	714	40352											
IKZF4	64375	broad.mit.edu	37	chr12	56429106	56429106	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgtccggggggagcataaGgtgggctagcaacctctccc	8	8	14	11	1	1	0	0	0	1	0	3	1	2	1	3	5	3	3	3	5	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:56429106G>A	ENST00000262032.5	+	12	2116	c.1749G>A	c.(1747-1749)aaG>aaA	p.K583K	IKZF4_ENST00000547791.1_Silent_p.K538K|IKZF4_ENST00000547167.1_Silent_p.K583K|IKZF4_ENST00000431367.2_Silent_p.K481K|RP11-603J24.4_ENST00000551846.1_RNA			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	583					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGAGCATAAGGTGGGCTAGC	0.547													7	191					0	0	0	0	A	56429106	G	A	56429106	2	1	222	1	0	0	0	0	0	0	0	1	7670	991	35	4		4	IKZF4	12	56429106	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3082541	56429106	77422789	715	40353											
INHBC	3626	broad.mit.edu	37	chr12	57843137	57843137	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgacagggaggtccagCaggccagtctcatgttcttt	7	11	13	10	0	2	1	1	1	2	0	4	2	3	2	2	4	1	2	2	4	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:57843137C>G	ENST00000309668.2	+	2	518	c.391C>G	c.(391-393)Cag>Gag	p.Q131E	INHBC_ENST00000550133.1_Missense_Mutation_p.Q131E	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	131					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GGAGGTCCAGCAGGCCAGTCT	0.507													65	181					0	0	0	0	G	57843137	C	G	57843137	3	3	222	1	0	0	0	0	1	0	0	0	7796	711	25	4	397	4	INHBC	12	57843137	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1414031	57843137	76008758	716	40354											
METTL1	4234	broad.mit.edu	37	chr12	58163103	58163103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggtcctccagaggcaCacgctcaaacagtgggtgct	10	6	11	14	1	1	1	1	0	0	1	3	1	3	1	3	3	2	3	3	3	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:58163103C>A	ENST00000324871.7	-	5	1367	c.658G>T	c.(658-660)Gtg>Ttg	p.V220L	METTL1_ENST00000257848.7_3'UTR	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	methyltransferase like 1	220						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			TCCAGAGGCACACGCTCAAAC	0.537													11	21					3.86212e-05	6.34909e-05	1	0	A	58163103	C	A	58163103	3	1	222	1	0	0	0	0	1	0	0	0	9562	478	17	4	180	4	METTL1	12	58163103	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	319966	58163103	75688792	717	40355											
SLC16A7	9194	broad.mit.edu	37	chr12	60173400	60173400	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctaaacattcggaagaTgttaacgtcaaagtttcaaa	18	11	6	6	2	3	1	2	0	1	1	4	2	3	2	0	1	2	2	0	1	7	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:60173400T>C	ENST00000261187.4	+	5	1541	c.1377T>C	c.(1375-1377)gaT>gaC	p.D459D	SLC16A7_ENST00000547379.1_Silent_p.D459D|SLC16A7_ENST00000543448.1_Silent_p.D360D|SLC16A7_ENST00000552432.1_Silent_p.D459D|SLC16A7_ENST00000552024.1_Silent_p.D459D	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	459						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ATTCGGAAGATGTTAACGTCA	0.368													7	19					0	0	0	0	C	60173400	T	C	60173400	2	2	222	1	0	0	0	0	0	0	0	1	14501	1461	51	5		5	SLC16A7	12	60173400	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2010297	60173400	73678495	718	40356											
USP15	9958	broad.mit.edu	37	chr12	62715352	62715352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaccactgaataaaccaGacagcaccattcaggatgct	15	8	7	11	0	1	3	1	2	0	1	1	4	1	4	3	1	4	2	3	1	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:62715352G>T	ENST00000280377.5	+	5	641	c.583G>T	c.(583-585)Gac>Tac	p.D195Y	USP15_ENST00000312635.6_Missense_Mutation_p.D195Y|USP15_ENST00000393654.3_Missense_Mutation_p.D195Y|USP15_ENST00000353364.3_Missense_Mutation_p.D195Y|USP15_ENST00000550632.1_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	195					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAATAAACCAGACAGCACCAT	0.333													7	29					0.000274275	0.000441235	1	0	T	62715352	G	T	62715352	3	4	222	1	0	0	0	0	1	0	0	0	17142	942	33	2	601	2	USP15	12	62715352	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2541952	62715352	71136543	719	40357											
AVPR1A	552	broad.mit.edu	37	chr12	63543951	63543951	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggcgccacaaagatgccGcccgtcatccaggtcacgta	10	5	11	15	5	2	1	2	0	0	1	3	1	3	1	4	2	1	1	4	2	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:63543951G>T	ENST00000299178.2	-	1	771	c.666C>A	c.(664-666)ggC>ggA	p.G222G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	222					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CAAAGATGCCGCCCGTCATCC	0.612													34	93					3.90053e-15	8.23538e-15	1	0	T	63543951	G	T	63543951	2	4	222	1	0	0	0	0	0	0	0	1	1235	1074	38	3		3	AVPR1A	12	63543951	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	828599	63543951	70307944	720	40358											
TMBIM4	51643	broad.mit.edu	37	chr12	66531826	66531826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgatggcagctaataCgtactcttcaggtgacagtt	10	11	12	8	1	2	2	1	2	1	0	2	3	2	2	0	3	3	5	0	3	3	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:66531826C>T	ENST00000358230.3	-	7	751	c.631G>A	c.(631-633)Gta>Ata	p.V211I	TMBIM4_ENST00000286424.7_Missense_Mutation_p.V258I|TMBIM4_ENST00000542724.1_Missense_Mutation_p.V180I|TMBIM4_ENST00000544599.1_Missense_Mutation_p.V34I|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000398033.4_3'UTR	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	211						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		GCAGCTAATACGTACTCTTCA	0.413													22	47					0	0	0	0	T	66531826	C	T	66531826	3	4	222	1	0	0	0	0	1	0	0	0	16076	536	19	1	89	1	TMBIM4	12	66531826	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2987875	66531826	67320069	721	40359											
IRAK3	11213	broad.mit.edu	37	chr12	66638281	66638282	+	Frame_Shift_Ins	INS	-	-	GATGA																															ttagtgcaaacatccttttgINSgatgatcagtttcaacccaa																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:66638281_66638282insGATGA	ENST00000261233.4	+	9	1324_1325	c.903_904insGATGA	c.(901-906)ttatgafs	p.*302fs	IRAK3_ENST00000457197.2_Frame_Shift_Ins_p.*241fs	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	302	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ACATCCTTTTGGATGATCAGTT	0.396													10	47	---	---	---	---					GATGA	66638282	-	GATGA	66638281	7	5	222	1	0	1	1	0	0	0	0	0	7877	1339	47	0	937	0	IRAK3	12	66638281	Frame_Shift_Ins	INS	-	TCGA-CR-7402-01A-11D-2012-08	106455	66638281	67213614	722	40360											
DYRK2	8445	broad.mit.edu	37	chr12	68051900	68051900	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtatggcatgcccattgatAtgtggagcctgggctgcatt	7	12	14	8	0	0	1	0	1	0	0	0	2	0	2	2	4	3	4	2	4	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:68051900A>T	ENST00000344096.3	+	3	1626	c.1213A>T	c.(1213-1215)Atg>Ttg	p.M405L	DYRK2_ENST00000393555.3_Missense_Mutation_p.M332L	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	405	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GCCCATTGATATGTGGAGCCT	0.542													11	30					0	0	0	0	T	68051900	A	T	68051900	3	4	222	1	0	0	0	0	1	0	0	0	4892	449	16	5	1223	5	DYRK2	12	68051900	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1413619	68051900	65799995	723	40361											
MDM2	4193	broad.mit.edu	37	chr12	69203025	69203025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatgtctgtacctactgatGgtgctgtaaccacctcacag	10	11	8	12	0	2	1	1	1	1	0	2	1	2	1	3	1	4	3	3	1	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:69203025G>C	ENST00000462284.1	+	2	354	c.52G>C	c.(52-54)Ggt>Cgt	p.G18R	MDM2_ENST00000258149.5_Missense_Mutation_p.G12R|MDM2_ENST00000545204.1_Missense_Mutation_p.G12R|MDM2_ENST00000299252.4_Missense_Mutation_p.G12R|MDM2_ENST00000356290.4_Missense_Mutation_p.G12R|MDM2_ENST00000478070.1_Missense_Mutation_p.G7R|MDM2_ENST00000544561.1_Missense_Mutation_p.G12R|MDM2_ENST00000258148.7_Missense_Mutation_p.G18R|MDM2_ENST00000517852.1_Missense_Mutation_p.G12R|MDM2_ENST00000348801.2_Missense_Mutation_p.G7R|MDM2_ENST00000393413.3_Missense_Mutation_p.G12R|MDM2_ENST00000360430.2_Missense_Mutation_p.G12R|MDM2_ENST00000428863.2_Missense_Mutation_p.G12R|MDM2_ENST00000393410.1_Missense_Mutation_p.G12R|MDM2_ENST00000393412.3_Missense_Mutation_p.G12R|MDM2_ENST00000540827.1_Missense_Mutation_p.G12R|MDM2_ENST00000350057.5_Missense_Mutation_p.G12R	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	12	Necessary for interaction with USP2.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ACCTACTGATGGTGCTGTAAC	0.368			A		"sarcoma, glioma, colorectal, other"								134	285					0	0	0	0	C	69203025	G	C	69203025	3	2	222	1	0	0	0	0	1	0	0	0	9482	1348	47	4	58	4	MDM2	12	69203025	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1151125	69203025	64648870	724	40362											
PTPRR	5801	broad.mit.edu	37	chr12	71078504	71078504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaatataattagcattaaTgtaggtgctcaatgaatcgg	14	13	8	6	1	1	1	1	1	0	0	2	1	1	1	1	2	2	3	1	2	8	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:71078504T>C	ENST00000283228.2	-	9	1791	c.1339A>G	c.(1339-1341)Att>Gtt	p.I447V	PTPRR_ENST00000440835.2_Missense_Mutation_p.I202V|PTPRR_ENST00000549308.1_Missense_Mutation_p.I202V|PTPRR_ENST00000342084.4_Missense_Mutation_p.I335V|PTPRR_ENST00000378778.1_Missense_Mutation_p.I241V	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	447	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTAGCATTAATGTAGGTGCTC	0.299													24	59					0	0	0	0	C	71078504	T	C	71078504	3	2	222	1	0	0	0	0	1	0	0	0	12892	1464	51	5	658	5	PTPRR	12	71078504	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1875479	71078504	62773391	725	40363											
TPH2	121278	broad.mit.edu	37	chr12	72335486	72335487	+	Frame_Shift_Ins	INS	-	-	T																															tgaagaatgaagttggtggaINSttggtaaaagcactgaggct																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:72335486_72335487insT	ENST00000333850.3	+	2	369_370	c.228_229insT	c.(226-231)ggtggtfs	p.G77fs	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	77	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AAGTTGGTGGATTGGTAAAAGC	0.416													34	65	---	---	---	---					T	72335487	-	T	72335486	7	5	222	1	0	1	1	0	0	0	0	0	16497	320	12	0	234	0	TPH2	12	72335486	Frame_Shift_Ins	INS	-	TCGA-CR-7402-01A-11D-2012-08	1256982	72335486	61516409	726	40364											
CAPS2	84698	broad.mit.edu	37	chr12	75687068	75687068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatcaatatttgtgattCggagtttaagtaatgtgttt	10	20	9	2	1	1	2	1	2	0	0	2	3	1	3	0	1	0	3	0	1	4	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:75687068C>A	ENST00000393284.3	-	12	1086	c.485G>T	c.(484-486)cGa>cTa	p.R162L	CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.R312L|CAPS2_ENST00000409445.3_Missense_Mutation_p.R394L|RP11-560G2.1_ENST00000549953.1_RNA			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	394							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						ATTTGTGATTCGGAGTTTAAG	0.318													19	52					5.3912e-06	9.12394e-06	1	0	A	75687068	C	A	75687068	3	1	222	1	0	0	0	0	1	0	0	0	2663	884	31	3	516	3	CAPS2	12	75687068	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3351582	75687068	58164827	727	40365											
NAV3	89795	broad.mit.edu	37	chr12	78400500	78400500	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcaagctagtcaatgcccgGactgctttacgccccccgca	8	9	8	16	3	2	0	2	0	0	0	2	1	2	1	4	1	4	3	4	1	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:78400500G>C	ENST00000397909.2	+	8	1355	c.1182G>C	c.(1180-1182)cgG>cgC	p.R394R	NAV3_ENST00000536525.2_Silent_p.R394R|NAV3_ENST00000228327.6_Silent_p.R394R|NAV3_ENST00000266692.7_Silent_p.R394R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	394						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCAATGCCCGGACTGCTTTAC	0.498										HNSCC(70;0.22)			25	69					0	0	0	0	C	78400500	G	C	78400500	2	2	222	1	0	0	0	0	0	0	0	1	10255	1161	41	2		2	NAV3	12	78400500	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2713432	78400500	55451395	728	40366											
ACSS3	79611	broad.mit.edu	37	chr12	81627154	81627154	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgataccatggatgctggTtacatggatgaagaaggcta	13	11	12	5	0	0	3	0	2	0	1	0	5	0	5	1	4	3	3	1	4	6	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:81627154T>C	ENST00000548058.1	+	13	2533	c.1623T>C	c.(1621-1623)ggT>ggC	p.G541G	ACSS3_ENST00000548324.1_Silent_p.G223G|ACSS3_ENST00000261206.3_Silent_p.G540G			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	541						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGGATGCTGGTTACATGGATG	0.343													31	99					0	0	0	0	C	81627154	T	C	81627154	2	2	222	1	0	0	0	0	0	0	0	1	190	1712	60	5		5	ACSS3	12	81627154	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	3226654	81627154	52224741	729	40367											
SLC6A15	55117	broad.mit.edu	37	chr12	85255711	85255711	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgaaaactacagggactggGagtattgcaaagacaaccag	17	6	11	7	0	0	2	0	1	0	1	0	4	0	4	1	2	4	2	1	2	6	3	rs149254147		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:85255711G>T	ENST00000266682.5	-	12	2434	c.1893C>A	c.(1891-1893)ctC>ctA	p.L631L	SLC6A15_ENST00000309283.7_Intron|SLC6A15_ENST00000552192.1_Silent_p.L524L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	631					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CAGGGACTGGGAGTATTGCAA	0.393													19	88					3.57192e-18	7.93625e-18	1	0	T	85255711	G	T	85255711	2	4	222	1	0	0	0	0	0	0	0	1	14766	1161	41	2		2	SLC6A15	12	85255711	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3628557	85255711	48596184	730	40368											
SLC6A15	55117	broad.mit.edu	37	chr12	85266419	85266419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattttacaggaattgagatGaagagcaggaaactcttctt	15	12	9	5	0	2	3	0	2	2	2	2	6	2	5	0	2	3	1	0	2	5	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:85266419G>A	ENST00000266682.5	-	8	1805	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y	SLC6A15_ENST00000309283.7_Missense_Mutation_p.H130Y|SLC6A15_ENST00000552192.1_Missense_Mutation_p.H315Y	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	422					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GAATTGAGATGAAGAGCAGGA	0.308													20	36					0	0	0	0	A	85266419	G	A	85266419	3	1	222	1	0	0	0	0	1	0	0	0	14766	1290	45	2	948	2	SLC6A15	12	85266419	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	10708	85266419	48585476	731	40369											
C12orf29	91298	broad.mit.edu	37	chr12	88433979	88433979	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaggcattagatgcagatAtatacagtgcaattccaaca	17	9	7	8	0	0	2	0	0	0	2	1	2	1	2	1	1	4	3	1	1	7	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:88433979A>T	ENST00000356891.3	+	2	348	c.145A>T	c.(145-147)Ata>Tta	p.I49L	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	49										large_intestine(3)|lung(1)|ovary(1)	5						AGATGCAGATATATACAGTGC	0.308													23	42					0	0	0	0	T	88433979	A	T	88433979	3	4	222	1	0	0	0	0	1	0	0	0	1692	449	16	5	151	5	C12orf29	12	88433979	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	3167560	88433979	45417916	732	40370											
CCDC38	120935	broad.mit.edu	37	chr12	96312654	96312654	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttaattaaactttacCgtttcctttgctgccatttc	8	20	4	9	1	0	1	0	1	0	0	2	1	1	1	3	0	4	2	3	0	4	8	rs139084164		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:96312654C>A	ENST00000344280.3	-	3	695	c.138_splice	c.e3+1	p.T46_splice		NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	46										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TAAACTTTACCGTTTCCTTTG	0.363													14	46					1.15088e-07	2.03777e-07	1	0	A	96312654	C	A	96312654	5	1	222	1	0	0	0	0	0	0	1	0	2836	666	23	3	1609	3	CCDC38	12	96312654	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	7878675	96312654	37539241	733	40371											
IKBIP	121457	broad.mit.edu	37	chr12	99007656	99007656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctatctgtatgtttgtCgaagtcactctttagttcgg	9	17	8	7	2	4	0	1	0	3	0	6	1	4	0	0	1	0	3	0	1	5	6	rs147943089	by1000genomes	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:99007656C>A	ENST00000342502.2	-	3	1171	c.760G>T	c.(760-762)Gac>Tac	p.D254Y	IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.D148Y	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	254					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GTATGTTTGTCGAAGTCACTC	0.378													20	68					2.4624e-09	4.57135e-09	1	0	A	99007656	C	A	99007656	3	1	222	1	0	0	0	0	1	0	0	0	7662	884	31	3	296	3	IKBIP	12	99007656	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2695002	99007656	34844239	734	40372											
NR1H4	9971	broad.mit.edu	37	chr12	100928694	100928694	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactgaaattcagtgtaaaTctaagcgactgagaaaaaat	19	10	7	5	1	2	2	1	2	1	1	2	4	2	2	0	0	2	1	0	0	8	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:100928694T>C	ENST00000548884.1	+	6	1154	c.613T>C	c.(613-615)Tct>Cct	p.S205P	NR1H4_ENST00000392986.3_Missense_Mutation_p.S209P|NR1H4_ENST00000549996.1_Missense_Mutation_p.S158P|NR1H4_ENST00000551379.1_Missense_Mutation_p.S219P|NR1H4_ENST00000188403.7_Missense_Mutation_p.S215P	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	219					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TCAGTGTAAATCTAAGCGACT	0.413													16	21					0	0	0	0	C	100928694	T	C	100928694	3	2	222	1	0	0	0	0	1	0	0	0	10690	1435	50	5	627	5	NR1H4	12	100928694	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1921038	100928694	32923201	735	40373											
ANO4	121601	broad.mit.edu	37	chr12	101491468	101491468	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctacttgaggctgataaaCaggtggagactagaagaggt	13	8	14	6	0	0	5	0	2	0	3	0	6	0	5	1	4	2	1	1	4	5	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:101491468C>A	ENST00000392979.3	+	19	2146	c.1785C>A	c.(1783-1785)aaC>aaA	p.N595K	ANO4_ENST00000392977.3_Missense_Mutation_p.N630K|ANO4_ENST00000550015.1_Missense_Mutation_p.N150K|ANO4_ENST00000299222.9_Missense_Mutation_p.N150K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	630						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGCTGATAAACAGGTGGAGAC	0.428										HNSCC(74;0.22)			20	52					2.39556e-15	5.06335e-15	1	0	A	101491468	C	A	101491468	3	1	222	1	0	0	0	0	1	0	0	0	698	477	17	4	1855	4	ANO4	12	101491468	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	562774	101491468	32360427	736	40374											
SLC5A8	160728	broad.mit.edu	37	chr12	101603614	101603614	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaaggtgccgatgccccGtggcgtgtccatggccgcac	6	6	14	15	5	0	0	0	0	0	0	1	2	1	0	5	3	2	1	5	3	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:101603614G>T	ENST00000536262.2	-	1	571	c.13C>A	c.(13-15)Cgg>Agg	p.R5R		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	5					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCGATGCCCCGTGGCGTGTCC	0.706													7	13					0.000157383	0.000254867	1	0	T	101603614	G	T	101603614	2	4	222	1	0	0	0	0	0	0	0	1	14759	1144	40	3		3	SLC5A8	12	101603614	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	112146	101603614	32248281	737	40375											
APPL2	55198	broad.mit.edu	37	chr12	105600962	105600962	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgccgggccgcggccacCtcttttccgacttcggtctt	2	12	10	17	6	2	0	0	0	2	0	5	1	4	0	6	3	0	0	6	3	0	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:105600962C>G	ENST00000258530.3	-	8	723	c.498G>C	c.(496-498)gaG>gaC	p.E166D	APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.E123D|APPL2_ENST00000551662.1_Missense_Mutation_p.E172D	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	166	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCGCGGCCACCTCTTTTCCGA	0.512													14	35					0	0	0	0	G	105600962	C	G	105600962	3	3	222	1	0	0	0	0	1	0	0	0	820	680	24	4	1552	4	APPL2	12	105600962	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3997348	105600962	28250933	738	40376											
NUAK1	9891	broad.mit.edu	37	chr12	106466568	106466568	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagtggactcccacaaaaCgtttgtaagaacttatcctt	13	12	7	9	1	0	2	0	0	0	2	2	3	2	3	2	1	2	2	2	1	6	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:106466568C>G	ENST00000261402.2	-	5	2012	c.633G>C	c.(631-633)acG>acC	p.T211T		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	211	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCCCACAAAACGTTTGTAAGA	0.488													21	50					0	0	0	0	G	106466568	C	G	106466568	2	3	222	1	0	0	0	0	0	0	0	1	10783	523	19	3		3	NUAK1	12	106466568	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	865606	106466568	27385327	739	40377											
BTBD11	121551	broad.mit.edu	37	chr12	108029160	108029160	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaacggaaacagacctcGcgcttgggtgagtggttccc	10	8	12	11	3	1	2	1	1	0	1	3	3	2	3	2	3	2	2	2	3	2	2	rs149726114	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:108029160G>C	ENST00000280758.5	+	12	3258	c.2730G>C	c.(2728-2730)tcG>tcC	p.S910S	BTBD11_ENST00000490090.2_Silent_p.S910S|BTBD11_ENST00000494235.2_5'UTR|BTBD11_ENST00000357167.4_Silent_p.S447S|BTBD11_ENST00000420571.2_Silent_p.S791S	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	910						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AACAGACCTCGCGCTTGGGTG	0.552													22	49					0	0	0	0	C	108029160	G	C	108029160	2	2	222	1	0	0	0	0	0	0	0	1	1547	1074	38	3		3	BTBD11	12	108029160	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1562592	108029160	25822735	740	40378											
CMKLR1	1240	broad.mit.edu	37	chr12	108686440	108686440	+	Frame_Shift_Del	DEL	G	G	-																															aaaacccagtggtagtccatGgcggcataggtgatatggat																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:108686440delG	ENST00000397688.2	-	3	663	c.294delC	c.(292-294)gcfs	p.A98fs	CMKLR1_ENST00000412676.1_Frame_Shift_Del_p.A100fs|CMKLR1_ENST00000552995.1_Frame_Shift_Del_p.A98fs|CMKLR1_ENST00000312143.7_Frame_Shift_Del_p.A100fs|CMKLR1_ENST00000550402.1_Frame_Shift_Del_p.A100fs	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	100					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGTAGTCCATGGCGGCATAGG	0.498													18	72	---	---	---	---					-	108686440	G	-	108686440	7	5	222	1	0	1	0	1	0	0	0	0	3609	1335	47	0	825	0	CMKLR1	12	108686440	Frame_Shift_Del	DEL	G	TCGA-CR-7402-01A-11D-2012-08	657280	108686440	25165455	741	40379											
SART3	9733	broad.mit.edu	37	chr12	108930562	108930562	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctctttactggagtCtaacggaaagtgcaaaaaaa	15	9	8	9	1	2	0	0	0	2	0	3	2	3	2	1	2	4	2	1	2	6	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:108930562C>A	ENST00000228284.3	-	10	1544		c.e10-1		SART3_ENST00000431469.2_Splice_Site	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3						RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTACTGGAGTCTAACGGAAAG	0.483									Porokeratosis				12	22					2.80697e-09	5.18149e-09	1	0	A	108930562	C	A	108930562	5	1	222	1	0	0	0	0	0	0	1	0	13933	927	32	2	1622	2	SART3	12	108930562	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	244122	108930562	24921333	742	40380											
ALKBH2	121642	broad.mit.edu	37	chr12	109530453	109530453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagtggcctccattccCtggggcctctctcctgggcc	2	11	12	16	0	1	1	0	1	1	0	5	1	4	1	6	4	1	1	6	4	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:109530453C>A	ENST00000429722.2	-	2	502	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	ALKBH2_ENST00000440112.2_Missense_Mutation_p.G47W|ALKBH2_ENST00000343075.3_Missense_Mutation_p.G47W	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	47					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CCTCCATTCCCTGGGGCCTCT	0.582								Direct reversal of damage					50	115					1.00776e-21	2.36272e-21	1	0	A	109530453	C	A	109530453	3	1	222	1	0	0	0	0	1	0	0	0	527	681	24	4	658	4	ALKBH2	12	109530453	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	599891	109530453	24321442	743	40381											
ACACB	32	broad.mit.edu	37	chr12	109650676	109650676	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgccatgcagccaccctGcagcggaaggctgatcgaga	10	5	13	13	2	0	2	0	1	0	1	1	5	0	3	3	2	5	3	3	2	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:109650676G>C	ENST00000338432.7	+	22	3404	c.3285G>C	c.(3283-3285)ctG>ctC	p.L1095L	ACACB_ENST00000377848.3_Silent_p.L1095L|ACACB_ENST00000377854.5_Silent_p.L1095L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1095					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CAGCCACCCTGCAGCGGAAGG	0.542													45	114					0	0	0	0	C	109650676	G	C	109650676	2	2	222	1	0	0	0	0	0	0	0	1	107	1306	46	4		4	ACACB	12	109650676	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	120223	109650676	24201219	744	40382											
UBE3B	89910	broad.mit.edu	37	chr12	109959106	109959106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcatcaagagagtttttGacccagcactcaatctgttc	12	12	7	10	0	4	3	3	1	1	2	5	4	4	3	1	0	1	3	1	0	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:109959106G>C	ENST00000342494.3	+	20	2825	c.2230G>C	c.(2230-2232)Gac>Cac	p.D744H	UBE3B_ENST00000434735.2_Missense_Mutation_p.D744H	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	744	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GAGAGTTTTTGACCCAGCACT	0.488													31	99					0	0	0	0	C	109959106	G	C	109959106	3	2	222	1	0	0	0	0	1	0	0	0	16976	1290	45	2	2300	2	UBE3B	12	109959106	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	308430	109959106	23892789	745	40383											
RPH3A	22895	broad.mit.edu	37	chr12	113307719	113307719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgacccagcctctgctcCcgggcgaggaaactatgggc	7	6	12	16	2	1	1	0	1	1	0	2	3	2	2	4	3	3	1	4	3	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:113307719C>A	ENST00000389385.4	+	10	1168	c.671C>A	c.(670-672)cCc>cAc	p.P224H	RPH3A_ENST00000548866.1_Missense_Mutation_p.P175H|RPH3A_ENST00000447659.2_Missense_Mutation_p.P175H|RPH3A_ENST00000415485.3_Missense_Mutation_p.P224H|RPH3A_ENST00000543106.2_Missense_Mutation_p.P224H|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.P224H|RPH3A_ENST00000551052.1_Missense_Mutation_p.P220H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	224	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCCTCTGCTCCCGGGCGAGGA	0.562													29	62					3.99451e-17	8.73603e-17	1	0	A	113307719	C	A	113307719	3	1	222	1	0	0	0	0	1	0	0	0	13636	623	22	4	701	4	RPH3A	12	113307719	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3348613	113307719	20544176	746	40384											
RPH3A	22895	broad.mit.edu	37	chr12	113321158	113321158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccatctggaatgagaccCtcgtgtatcacggcatcacc	10	8	8	15	2	3	1	2	1	1	1	4	3	3	2	4	2	0	2	4	2	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:113321158C>T	ENST00000389385.4	+	16	1884	c.1387C>T	c.(1387-1389)Ctc>Ttc	p.L463F	RPH3A_ENST00000548866.1_Missense_Mutation_p.L414F|RPH3A_ENST00000447659.2_Missense_Mutation_p.L414F|RPH3A_ENST00000415485.3_Missense_Mutation_p.L463F|RPH3A_ENST00000543106.2_Missense_Mutation_p.L463F|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.L463F|RPH3A_ENST00000551052.1_Missense_Mutation_p.L459F	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	463	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GAATGAGACCCTCGTGTATCA	0.562													10	23					0	0	0	0	T	113321158	C	T	113321158	3	4	222	1	0	0	0	0	1	0	0	0	13636	681	24	4	1441	4	RPH3A	12	113321158	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	13439	113321158	20530737	747	40385											
PRKAB1	5564	broad.mit.edu	37	chr12	120114377	120114377	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccaggaccctaccatcagGagccctacgtctgcaaaccc	10	5	7	19	1	2	0	1	0	1	0	2	2	2	2	6	2	5	1	6	2	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:120114377G>T	ENST00000229328.5	+	5	1060	c.568G>T	c.(568-570)Gag>Tag	p.E190*	PRKAB1_ENST00000540121.1_Nonsense_Mutation_p.E24*|PRKAB1_ENST00000541640.1_Nonsense_Mutation_p.E190*	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	190					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	CTACCATCAGGAGCCCTACGT	0.537													36	80					9.80977e-26	2.36524e-25	1	0	T	120114377	G	T	120114377	4	4	222	1	0	0	0	0	0	1	0	0	12575	1175	41	2	586	2	PRKAB1	12	120114377	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	6793219	120114377	13737518	748	40386											
CLIP1	6249	broad.mit.edu	37	chr12	122825411	122825411	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttaccttcggaactggctttCcgaagtgcatcaagatccaa	11	11	8	11	2	1	1	1	0	0	1	4	3	3	2	3	2	3	2	3	2	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:122825411C>T	ENST00000358808.2	-	10	2461	c.2307G>A	c.(2305-2307)cgG>cgA	p.R769R	CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000540338.1_Silent_p.R780R|CLIP1_ENST00000302528.7_Silent_p.R769R|CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000537178.1_Silent_p.R734R	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	780					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AACTGGCTTTCCGAAGTGCAT	0.393													45	99					0	0	0	0	T	122825411	C	T	122825411	2	4	222	1	0	0	0	0	0	0	0	1	3562	842	30	2		2	CLIP1	12	122825411	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2711034	122825411	11026484	749	40387											
SBNO1	55206	broad.mit.edu	37	chr12	123780568	123780568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgataggagatttacaagagGagacacacaatttgccggaa	16	8	11	6	1	0	4	0	1	0	3	0	7	0	5	1	3	2	0	1	3	5	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:123780568G>A	ENST00000420886.2	-	31	4068	c.4069C>T	c.(4069-4071)Cct>Tct	p.P1357S	SBNO1_ENST00000602750.1_Missense_Mutation_p.P1356S|SBNO1_ENST00000267176.4_Missense_Mutation_p.P1356S|SBNO1_ENST00000602398.1_Missense_Mutation_p.P1357S	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1357							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTTACAAGAGGAGACACACAA	0.428													46	104					0	0	0	0	A	123780568	G	A	123780568	3	1	222	1	0	0	0	0	1	0	0	0	13948	1174	41	2	116	2	SBNO1	12	123780568	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	955157	123780568	10071327	750	40388											
DNAH10	196385	broad.mit.edu	37	chr12	124383262	124383262	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaccatccagctggacGagctgaaccagaagctggcc	11	4	12	14	1	0	2	0	1	0	1	1	4	1	3	5	3	4	3	5	3	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:124383262G>T	ENST00000409039.3	+	55	9212	c.9187G>T	c.(9187-9189)Gag>Tag	p.E3063*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3063	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCAGCTGGACGAGCTGAACCA	0.617													3	12					6.4e-05	0.000104882	1	0	T	124383262	G	T	124383262	4	4	222	1	0	0	0	0	0	1	0	0	4635	1059	37	3	9405	3	DNAH10	12	124383262	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	602694	124383262	9468633	751	40389											
GLT1D1	144423	broad.mit.edu	37	chr12	129442110	129442110	+	Frame_Shift_Del	DEL	G	G	-																															gcaatggatttagaagtaccGgtattggccaggaacatccc																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:129442110delG	ENST00000442111.2	+	11	889	c.801delG	c.(799-801)ccfs	p.P267fs	GLT1D1_ENST00000281703.6_Frame_Shift_Del_p.P187fs|GLT1D1_ENST00000537468.1_Frame_Shift_Del_p.P272fs|GLT1D1_ENST00000542193.1_Frame_Shift_Del_p.P184fs			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	267					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TAGAAGTACCGGTATTGGCCA	0.527													11	21	---	---	---	---					-	129442110	G	-	129442110	7	5	222	1	0	1	0	1	0	0	0	0	6516	1103	39	0	587	0	GLT1D1	12	129442110	Frame_Shift_Del	DEL	G	TCGA-CR-7402-01A-11D-2012-08	5058848	129442110	4409785	752	40390											
TMEM132D	121256	broad.mit.edu	37	chr12	130184929	130184929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactttgtcccgcaggatgtGggcttttagtttccagttaa	7	15	11	8	1	0	0	0	0	0	0	2	2	2	1	2	2	0	4	2	2	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:130184929G>T	ENST00000422113.2	-	2	720	c.394C>A	c.(394-396)Cac>Aac	p.H132N		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	132						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGCAGGATGTGGGCTTTTAGT	0.527													14	30					1.3612e-06	2.34223e-06	1	0	T	130184929	G	T	130184929	3	4	222	1	0	0	0	0	1	0	0	0	16141	1348	47	4	2937	4	TMEM132D	12	130184929	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	742819	130184929	3666966	753	40391											
PIWIL1	9271	broad.mit.edu	37	chr12	130831562	130831562	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaacaaatgaacttccacCtacatcaccaacttgtttgc	13	13	3	12	0	1	1	1	1	0	0	2	1	2	1	3	0	5	1	3	0	5	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:130831562C>A	ENST00000245255.3	+	6	880	c.608C>A	c.(607-609)cCt>cAt	p.P203H		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	203					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAACTTCCACCTACATCACCA	0.348													17	36					6.94344e-10	1.3102e-09	1	0	A	130831562	C	A	130831562	3	1	222	1	0	0	0	0	1	0	0	0	12029	681	24	4	626	4	PIWIL1	12	130831562	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	646633	130831562	3020333	754	40392											
GPR133	283383	broad.mit.edu	37	chr12	131466553	131466553	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcggtggcagaggctctgtGgagctgtatacgcgggacaa	9	7	17	8	3	1	1	0	0	1	1	1	3	1	3	0	5	3	4	0	5	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:131466553G>A	ENST00000261654.5	+	5	994	c.435G>A	c.(433-435)gtG>gtA	p.V145V	GPR133_ENST00000535015.1_Silent_p.V177V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	145					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAGGCTCTGTGGAGCTGTATA	0.587													38	71					0	0	0	0	A	131466553	G	A	131466553	2	1	222	1	0	0	0	0	0	0	0	1	6692	1335	47	4		4	GPR133	12	131466553	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	634991	131466553	2385342	755	40393											
POLE	5426	broad.mit.edu	37	chr12	133225973	133225973	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccccgtggcaggaccatcCcggatggccccgggcctgag	6	4	15	16	3	0	1	0	1	0	0	1	3	1	3	7	5	1	1	7	5	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:133225973C>A	ENST00000320574.5	-	31	3967	c.3924G>T	c.(3922-3924)cgG>cgT	p.R1308R	POLE_ENST00000535270.1_Silent_p.R1281R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1308					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CAGGACCATCCCGGATGGCCC	0.647								DNA polymerases (catalytic subunits)					17	50					9.16793e-09	1.67493e-08	1	0	A	133225973	C	A	133225973	2	1	222	1	0	0	0	0	0	0	0	1	12268	610	22	4		4	POLE	12	133225973	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1759420	133225973	625922	756	40394											
POLE	5426	broad.mit.edu	37	chr12	133234500	133234500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagctcttgagccatttcCggagaaagtgcttcctcacc	10	10	9	12	1	2	3	1	1	1	2	4	4	4	3	4	1	3	2	4	1	2	3	rs114315196	by1000genomes	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:133234500C>T	ENST00000320574.5	-	27	3375	c.3332G>A	c.(3331-3333)cGg>cAg	p.R1111Q	POLE_ENST00000535270.1_Missense_Mutation_p.R1084Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1111					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GAGCCATTTCCGGAGAAAGTG	0.483								DNA polymerases (catalytic subunits)					34	84					0	0	0	0	T	133234500	C	T	133234500	3	4	222	1	0	0	0	0	1	0	0	0	12268	652	23	1	3620	1	POLE	12	133234500	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	8527	133234500	617395	757	40395											
POLE	5426	broad.mit.edu	37	chr12	133257867	133257867	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtggcgccatcatcccTgagtgaaagaagggaacccc	12	5	13	11	1	1	3	1	2	0	1	2	5	2	5	4	3	1	0	4	3	4	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:133257867T>A	ENST00000320574.5	-	2	106		c.e2-2		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCATCATCCCTGAGTGAAAGA	0.473								DNA polymerases (catalytic subunits)					35	82					0	0	0	0	A	133257867	T	A	133257867	5	1	222	1	0	0	0	0	0	0	1	0	12268	1594	55	5	6991	5	POLE	12	133257867	Splice_Site	SNP	T	TCGA-CR-7402-01A-11D-2012-08	23367	133257867	594028	758	40396											
ZNF10	7556	broad.mit.edu	37	chr12	133732562	133732562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctacaaatgccctgataatGacaactctcttactcatggt	12	12	5	12	0	2	2	1	2	1	0	3	2	2	2	2	1	4	0	2	1	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:133732562G>A	ENST00000248211.6	+	5	952	c.730G>A	c.(730-732)Gac>Aac	p.D244N	ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.D244N|ZNF10_ENST00000402932.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	244				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCCTGATAATGACAACTCTCT	0.378													12	27					0	0	0	0	A	133732562	G	A	133732562	3	1	222	1	0	0	0	0	1	0	0	0	17807	1290	45	2	744	2	ZNF10	12	133732562	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	474695	133732562	119333	759	40397											
ZNF10	7556	broad.mit.edu	37	chr12	133733348	133733348	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccggaagaatgacctcattAagcaccagagaattcatgtt	14	10	8	9	1	2	3	2	1	0	2	3	5	3	4	3	1	1	2	3	1	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:133733348A>T	ENST00000248211.6	+	5	1738	c.1516A>T	c.(1516-1518)Aag>Tag	p.K506*	ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000426665.2_Nonsense_Mutation_p.K506*|ZNF10_ENST00000402932.2_Nonsense_Mutation_p.K372*|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGACCTCATTAAGCACCAGAG	0.413													13	42					0	0	0	0	T	133733348	A	T	133733348	4	4	222	1	0	0	0	0	0	1	0	0	17807	363	13	5	1530	5	ZNF10	12	133733348	Nonsense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	786	133733348	118547	760	40398											
TUBA3C	7278	broad.mit.edu	37	chr13	19753636	19753636	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaattccatgttccaggcagTacagttcccagcaggcattg	10	10	10	11	0	0	0	0	0	0	0	3	1	3	0	3	2	2	6	3	2	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:19753636T>A	ENST00000400113.3	-	2	175	c.71A>T	c.(70-72)tAc>tTc	p.Y24F		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	24					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TTCCAGGCAGTACAGTTCCCA	0.512													50	45					0	0	0	0	A	19753636	T	A	19753636	3	1	222	1	0	0	0	0	1	0	0	0	16842	1638	57	5	1297	5	TUBA3C	13	19753636	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08		19753636	95416242	761	40399											
RNF17	56163	broad.mit.edu	37	chr13	25406105	25406105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaagataaatttatgacatGttcagttatcagtaagttcc	14	15	6	6	0	3	2	3	1	0	1	4	2	4	2	1	0	0	4	1	0	6	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:25406105G>T	ENST00000255324.5	+	18	2523	c.2471G>T	c.(2470-2472)tGt>tTt	p.C824F	RNF17_ENST00000381921.1_Missense_Mutation_p.C824F	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	824					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)		TTTATGACATGTTCAGTTATC	0.259													6	12					0.00116845	0.00186436	1	0	T	25406105	G	T	25406105	3	4	222	1	0	0	0	0	1	0	0	0	13546	1377	48	4	2541	4	RNF17	13	25406105	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5652469	25406105	89763773	762	40400											
PABPC3	5042	broad.mit.edu	37	chr13	25671150	25671150	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctcagaaaaaagtggaaCggcagacggaacttaagcgc	16	4	13	8	3	1	2	1	0	0	2	1	5	1	4	0	3	4	2	0	3	6	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:25671150C>A	ENST00000281589.3	+	1	851	c.814C>A	c.(814-816)Cgg>Agg	p.R272R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	272					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAAGTGGAACGGCAGACGGA	0.398													30	37					7.26314e-15	1.52199e-14	1	0	A	25671150	C	A	25671150	2	1	222	1	0	0	0	0	0	0	0	1	11436	527	19	3		3	PABPC3	13	25671150	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	265045	25671150	89498728	763	40401											
ATP8A2	51761	broad.mit.edu	37	chr13	26343303	26343303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatccagacagcccacgtggGtgtgggaatcagtgggaatg	10	7	16	8	1	1	1	1	0	0	1	2	4	2	3	2	3	1	0	2	3	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:26343303G>T	ENST00000381655.2	+	26	2646	c.2504G>T	c.(2503-2505)gGt>gTt	p.G835V	ATP8A2_ENST00000255283.8_Missense_Mutation_p.G795V|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	795					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCCCACGTGGGTGTGGGAATC	0.592													20	52					3.5997e-14	7.42367e-14	1	0	T	26343303	G	T	26343303	3	4	222	1	0	0	0	0	1	0	0	0	1197	1261	44	4	2606	4	ATP8A2	13	26343303	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	672153	26343303	88826575	764	40402											
FLT3	2322	broad.mit.edu	37	chr13	28592684	28592684	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcttcaccactttcccgtGggtgacaagcacgttcctgg	7	12	9	13	2	2	1	1	1	1	0	4	1	4	1	3	2	1	2	3	2	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:28592684G>C	ENST00000380982.4	-	20	2542	c.2461C>G	c.(2461-2463)Cac>Gac	p.H821D	FLT3_ENST00000241453.7_Missense_Mutation_p.H821D|FLT3_ENST00000537084.1_Intron			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	821	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACTTTCCCGTGGGTGACAAGC	0.468			"Mis, O"		"AML, ALL"								19	32					0	0	0	0	C	28592684	G	C	28592684	3	2	222	1	0	0	0	0	1	0	0	0	5987	1348	47	4	540	4	FLT3	13	28592684	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2249381	28592684	86577194	765	40403											
FREM2	341640	broad.mit.edu	37	chr13	39264040	39264040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtgagacagagttgcaCgtgaatgatgtagacactga	13	9	13	6	1	0	7	0	5	0	3	0	8	0	7	0	0	1	3	0	0	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:39264040C>A	ENST00000280481.7	+	1	2775	c.2559C>A	c.(2557-2559)caC>caA	p.H853Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	853					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGAGTTGCACGTGAATGATG	0.502													13	28					5.50884e-06	9.30688e-06	1	0	A	39264040	C	A	39264040	3	1	222	1	0	0	0	0	1	0	0	0	6093	535	19	3	2561	3	FREM2	13	39264040	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	10671356	39264040	75905838	766	40404											
RB1	5925	broad.mit.edu	37	chr13	48955409	48955409	+	Frame_Shift_Del	DEL	G	G	-																															catctcagaatcttgattctGgaacagatttgtctttccca																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:48955409delG	ENST00000267163.4	+	17	1663	c.1525delG	c.(1525-1527)gafs	p.G509fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	509	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTGATTCTGGAACAGATTT	0.294		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			10	11	---	---	---	---					-	48955409	G	-	48955409	7	5	222	1	0	1	0	1	0	0	0	0	13180	1349	47	0	1591	0	RB1	13	48955409	Frame_Shift_Del	DEL	G	TCGA-CR-7402-01A-11D-2012-08	9691369	48955409	66214469	767	40405											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281445	49281445	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgtgggatcatatggatCcttatcatggcttcctcaat	8	15	8	10	0	4	0	3	0	1	0	6	2	6	2	2	3	0	1	2	3	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:49281445C>A	ENST00000282018.3	+	1	495	c.492C>A	c.(490-492)atC>atA	p.I164I		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	164					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TCATATGGATCCTTATCATGG	0.493													53	65					5.13769e-22	1.2089e-21	1	0	A	49281445	C	A	49281445	2	1	222	1	0	0	0	0	0	0	0	1	4234	845	30	2		2	CYSLTR2	13	49281445	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	326036	49281445	65888433	768	40406											
NEK5	341676	broad.mit.edu	37	chr13	52676308	52676308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatggatggtcggtctcgagGagatacttgaaagagctgag	11	10	15	5	2	1	4	0	2	1	2	3	7	1	5	0	4	2	1	0	4	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:52676308G>A	ENST00000355568.4	-	10	869	c.730C>T	c.(730-732)Cct>Tct	p.P244S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	244	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CGGTCTCGAGGAGATACTTGA	0.423													5	149					0	0	0	0	A	52676308	G	A	52676308	3	1	222	1	0	0	0	0	1	0	0	0	10397	1174	41	2	1448	2	NEK5	13	52676308	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3394863	52676308	62493570	769	40407											
PCDH17	27253	broad.mit.edu	37	chr13	58208274	58208274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtgaatcccacgaacGgggccatctacgccctgcgc	7	8	11	15	4	2	1	0	1	2	0	3	2	3	1	3	2	3	0	3	2	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:58208274G>T	ENST00000377918.3	+	1	1620	c.1594G>T	c.(1594-1596)Ggg>Tgg	p.G532W		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	532	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCCCACGAACGGGGCCATCTA	0.587													13	17					0.000151284	0.000245601	1	0	T	58208274	G	T	58208274	3	4	222	1	0	0	0	0	1	0	0	0	11583	1116	39	3	1596	3	PCDH17	13	58208274	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5531966	58208274	56961604	770	40408											
PCDH17	27253	broad.mit.edu	37	chr13	58208540	58208540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagcgacttcggcgagagCgggcgtctcacctacgagat	9	6	14	12	6	1	2	1	0	1	2	3	6	1	2	1	2	3	0	1	2	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:58208540C>A	ENST00000377918.3	+	1	1886	c.1860C>A	c.(1858-1860)agC>agA	p.S620R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	620	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCGGCGAGAGCGGGCGTCTCA	0.662													28	34					1.77063e-15	3.77104e-15	1	0	A	58208540	C	A	58208540	3	1	222	1	0	0	0	0	1	0	0	0	11583	767	27	3	1862	3	PCDH17	13	58208540	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	266	58208540	56961338	771	40409											
UGGT2	55757	broad.mit.edu	37	chr13	96599374	96599374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagagagcaactccagcatCatttgctccatcaacttcat	12	10	5	14	0	3	1	3	0	0	1	5	2	5	1	3	0	5	3	3	0	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:96599374C>T	ENST00000376747.3	-	15	1664	c.1594G>A	c.(1594-1596)Gat>Aat	p.D532N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	532					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ACTCCAGCATCATTTGCTCCA	0.343													23	33					0	0	0	0	T	96599374	C	T	96599374	3	4	222	1	0	0	0	0	1	0	0	0	17038	826	29	2	3056	2	UGGT2	13	96599374	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	38390834	96599374	18570504	772	40410											
FAM155A	728215	broad.mit.edu	37	chr13	108518792	108518792	+	Silent	SNP	C	C	A																															aaccacaagtgatcagagagCaggactgtgaaaaacaagag																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:108518792C>A	ENST00000375915.2	-	1	291	c.153G>T	c.(151-153)ctG>ctT	p.L51L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	51						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GATCAGAGAGCAGGACTGTGA	0.602													39	80					2.75727e-19	6.28349e-19	1	0	A	108518792	C	A	108518792	2	1	222	1	0	0	0	0	0	0	0	1	5506	697	25	4		4	FAM155A	13	108518792	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	11919418	108518792	6651086	773	40411	305	2									
FAM155A	728215	broad.mit.edu	37	chr13	108518793	108518793	+	Missense_Mutation	SNP	A	A	G																															accacaagtgatcagagagcAggactgtgaaaaacaagaga																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:108518793A>G	ENST00000375915.2	-	1	290	c.152T>C	c.(151-153)cTg>cCg	p.L51P		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	51						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ATCAGAGAGCAGGACTGTGAA	0.597													40	81					0	0	0	0	G	108518793	A	G	108518793	3	3	222	1	0	0	0	0	1	0	0	0	5506	188	7	5	1236	5	FAM155A	13	108518793	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1	108518793	6651085	774	40412	305	2									
F7	2155	broad.mit.edu	37	chr13	113770072	113770072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcctgtcggtgccacgagGggtactctctgctggcagac	5	9	14	13	2	1	1	0	0	1	1	4	2	2	1	2	4	3	4	2	4	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:113770072G>T	ENST00000375581.3	+	6	564	c.529G>T	c.(529-531)Ggg>Tgg	p.G177W	F7_ENST00000541084.1_Missense_Mutation_p.G108W|F7_ENST00000346342.3_Missense_Mutation_p.G155W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	177	EGF-like 2.		G -> R (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GTGCCACGAGGGGTACTCTCT	0.602													7	24					0.00198382	0.0031448	1	0	T	113770072	G	T	113770072	3	4	222	1	0	0	0	0	1	0	0	0	5387	1232	43	4	551	4	F7	13	113770072	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5251279	113770072	1399806	775	40413											
POTEG	404785	broad.mit.edu	37	chr14	19553561	19553561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgggcacttctggagacCacgacgattctgctatgaag	10	9	12	10	3	2	2	0	1	2	1	2	5	2	2	1	2	1	2	1	2	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:19553561C>G	ENST00000409832.3	+	1	197	c.145C>G	c.(145-147)Cac>Gac	p.H49D		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	49										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTCTGGAGACCACGACGATTC	0.607													42	900					0	0	0	0	G	19553561	C	G	19553561	3	3	222	1	0	0	0	0	1	0	0	0	12338	594	21	4	147	4	POTEG	14	19553561	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08		19553561	87795979	776	40414											
OR4Q3	441669	broad.mit.edu	37	chr14	20216334	20216334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgacagtggtcagcCtgatcttcgtgccatgcgta	7	11	10	13	2	3	2	2	2	1	0	4	2	3	2	3	1	3	1	3	1	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20216334C>A	ENST00000331723.1	+	1	748	c.748C>A	c.(748-750)Ctg>Atg	p.L250M		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTGGTCAGCCTGATCTTCGT	0.453													35	226					1.96642e-18	4.38905e-18	1	0	A	20216334	C	A	20216334	3	1	222	1	0	0	0	0	1	0	0	0	11152	680	24	4	750	4	OR4Q3	14	20216334	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	662773	20216334	87133206	777	40415											
OR4M1	441670	broad.mit.edu	37	chr14	20248502	20248502	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaaactgcaaattacacCaaggtgacagaatttgttct	15	11	8	7	0	1	2	0	1	1	1	1	3	1	3	1	2	3	2	1	2	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20248502C>A	ENST00000315957.4	+	1	102	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAATTACACCAAGGTGACAG	0.338													26	178					7.16444e-05	0.000117285	1	0	A	20248502	C	A	20248502	2	1	222	1	0	0	0	0	0	0	0	1	11146	581	21	4		4	OR4M1	14	20248502	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	32168	20248502	87101038	778	40416											
OR4M1	441670	broad.mit.edu	37	chr14	20248683	20248683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttggctaatctggccCtccttgatatttggtactct	5	17	8	11	0	2	1	0	1	2	0	4	1	4	1	3	3	1	3	3	3	3	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20248683C>A	ENST00000315957.4	+	1	283	c.202C>A	c.(202-204)Ctc>Atc	p.L68I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAATCTGGCCCTCCTTGATAT	0.423													66	532					3.07281e-33	7.58686e-33	1	0	A	20248683	C	A	20248683	3	1	222	1	0	0	0	0	1	0	0	0	11146	681	24	4	204	4	OR4M1	14	20248683	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	181	20248683	87100857	779	40417											
OR4K2	390431	broad.mit.edu	37	chr14	20345255	20345255	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtctgtgttttataccAtctttactcccactctgaac	7	18	4	12	0	4	1	0	1	4	0	5	1	5	1	2	0	3	1	2	0	4	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20345255A>T	ENST00000298642.2	+	1	865	c.829A>T	c.(829-831)Atc>Ttc	p.I277F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	277					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)		GTTTTATACCATCTTTACTCC	0.358													23	119					0	0	0	0	T	20345255	A	T	20345255	3	4	222	1	0	0	0	0	1	0	0	0	11143	217	8	5	831	5	OR4K2	14	20345255	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	96572	20345255	87004285	780	40418											
OR4K14	122740	broad.mit.edu	37	chr14	20482729	20482729	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagcagaaaacagctcaaGgaaagcaacccactgtctga	17	4	10	10	0	2	2	1	1	1	1	2	4	2	4	1	2	5	3	1	2	5	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20482729G>C	ENST00000305045.2	-	1	623	c.624C>G	c.(622-624)tcC>tcG	p.S208S		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AACAGCTCAAGGAAAGCAACC	0.502													13	32					0	0	0	0	C	20482729	G	C	20482729	2	2	222	1	0	0	0	0	0	0	0	1	11140	987	35	4		4	OR4K14	14	20482729	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	137474	20482729	86866811	781	40419											
OR4K13	390433	broad.mit.edu	37	chr14	20502160	20502160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacgtagataaagacacacGgagcaaagaacagagtcaca	20	3	10	8	2	1	5	1	0	0	5	1	6	1	6	0	1	2	2	0	1	5	2	rs150686832	by1000genomes	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20502160G>T	ENST00000315693.2	-	1	759	c.758C>A	c.(757-759)cCg>cAg	p.P253Q		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAAGACACACGGAGCAAAGAA	0.413													22	46					2.89027e-11	5.5888e-11	1	0	T	20502160	G	T	20502160	3	4	222	1	0	0	0	0	1	0	0	0	11139	1116	39	3	158	3	OR4K13	14	20502160	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	19431	20502160	86847380	782	40420											
OR4L1	122742	broad.mit.edu	37	chr14	20528986	20528986	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttatctatgtttggccAttcagtagtttggcaagcaa	10	17	8	6	0	2	0	1	0	1	0	2	0	2	0	1	2	1	5	1	2	5	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20528986A>G	ENST00000315683.1	+	1	783	c.783A>G	c.(781-783)ccA>ccG	p.P261P		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATGTTTGGCCATTCAGTAGTT	0.403													23	87					0	0	0	0	G	20528986	A	G	20528986	2	3	222	1	0	0	0	0	0	0	0	1	11145	204	8	5		5	OR4L1	14	20528986	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	26826	20528986	86820554	783	40421											
OR11G2	390439	broad.mit.edu	37	chr14	20666322	20666322	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgggagaagaaaggctttCtccacctgtgggtctcacct	8	10	12	11	0	2	2	1	0	2	2	4	3	2	2	3	3	0	2	3	3	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20666322C>T	ENST00000357366.3	+	1	828	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GAAAGGCTTTCTCCACCTGTG	0.517													57	145					0	0	0	0	T	20666322	C	T	20666322	2	4	222	1	0	0	0	0	0	0	0	1	10996	912	32	2		2	OR11G2	14	20666322	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	137336	20666322	86683218	784	40422											
OR11H6	122748	broad.mit.edu	37	chr14	20692320	20692320	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtcgtccattacactaccCctccatcatgactgggaagt	9	11	7	14	1	1	1	1	1	0	0	4	2	3	2	4	1	2	0	4	1	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20692320C>A	ENST00000315519.2	+	1	530	c.452C>A	c.(451-453)cCc>cAc	p.P151H		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTACACTACCCCTCCATCATG	0.423													40	77					5.71845e-15	1.20217e-14	1	0	A	20692320	C	A	20692320	3	1	222	1	0	0	0	0	1	0	0	0	11000	623	22	4	454	4	OR11H6	14	20692320	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	25998	20692320	86657220	785	40423											
OR6S1	341799	broad.mit.edu	37	chr14	21109748	21109748	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattcaggagatagacaaGaagaaacacagaaaataatt	22	6	8	5	0	1	6	1	0	0	6	1	7	1	6	0	1	1	0	0	1	7	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:21109748G>T	ENST00000320704.3	-	1	102	c.103C>A	c.(103-105)Ctt>Att	p.L35I		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AGATAGACAAGAAGAAACACA	0.478													37	93					2.47316e-13	4.97946e-13	1	0	T	21109748	G	T	21109748	3	4	222	1	0	0	0	0	1	0	0	0	11280	942	33	2	896	2	OR6S1	14	21109748	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	417428	21109748	86239792	786	40424											
LRFN5	145581	broad.mit.edu	37	chr14	42355978	42355978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttccaccaaacattgaCagaagaactgtggaactgcg	13	10	9	9	1	0	3	0	1	0	2	1	4	1	4	2	1	4	1	2	1	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:42355978C>A	ENST00000554171.1	+	5	2582	c.150C>A	c.(148-150)gaC>gaA	p.D50E	LRFN5_ENST00000298119.4_Missense_Mutation_p.D50E|LRFN5_ENST00000554120.1_Missense_Mutation_p.D50E			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	50	LRRNT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAAACATTGACAGAAGAACTG	0.413										HNSCC(30;0.082)			15	23					1.49906e-05	2.50014e-05	1	0	A	42355978	C	A	42355978	3	1	222	1	0	0	0	0	1	0	0	0	9005	477	17	4	152	4	LRFN5	14	42355978	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	21246230	42355978	64993562	787	40425											
FANCM	57697	broad.mit.edu	37	chr14	45669148	45669148	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctatagatatattcactaTgtatttgacatacaaatgtt	15	17	4	5	0	2	2	1	1	1	1	2	2	2	2	0	0	1	2	0	0	8	10			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:45669148T>C	ENST00000267430.5	+	23	6169	c.6084T>C	c.(6082-6084)taT>taC	p.Y2028Y	FANCM_ENST00000542564.2_Silent_p.Y2002Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	2028	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATATTCACTATGTATTTGACA	0.338								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				23	56					0	0	0	0	C	45669148	T	C	45669148	2	2	222	1	0	0	0	0	0	0	0	1	5716	1471	51	5		5	FANCM	14	45669148	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	3313170	45669148	61680392	788	40426											
NIN	51199	broad.mit.edu	37	chr14	51288662	51288662	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccaagctcaacatgTggcaaaggtcggtgagttcc	9	9	10	13	1	1	1	1	1	0	0	5	1	4	1	4	3	2	3	4	3	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:51288662T>G	ENST00000245441.5	-	3	303	c.113A>C	c.(112-114)cAc>cCc	p.H38P	NIN_ENST00000324330.9_Missense_Mutation_p.H38P|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000382043.4_Missense_Mutation_p.H38P|NIN_ENST00000389868.3_Missense_Mutation_p.H38P|NIN_ENST00000382041.3_Missense_Mutation_p.H38P|NIN_ENST00000530997.2_Missense_Mutation_p.H38P|NIN_ENST00000453196.1_Missense_Mutation_p.H38P	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	38	EF-hand 1.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GCTCAACATGTGGCAAAGGTC	0.587			T	PDGFRB	MPD								67	244					0	0	0	0	G	51288662	T	G	51288662	3	3	222	1	0	0	0	0	1	0	0	0	10487	1696	59	5	6552	5	NIN	14	51288662	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	5619514	51288662	56060878	789	40427											
PYGL	5836	broad.mit.edu	37	chr14	51381466	51381466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcagagtaggagccagcGccttggagtgatcccattgg	8	9	15	9	1	0	2	0	1	0	1	1	4	1	4	3	3	3	3	3	3	1	4	rs113993980		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:51381466G>T	ENST00000216392.7	-	12	1803	c.1471C>A	c.(1471-1473)Cgc>Agc	p.R491S	PYGL_ENST00000532462.1_Missense_Mutation_p.R491S|PYGL_ENST00000544180.2_Missense_Mutation_p.R457S	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	491					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AGGAGCCAGCGCCTTGGAGTG	0.498													17	57					2.35188e-11	4.57492e-11	1	0	T	51381466	G	T	51381466	3	4	222	1	0	0	0	0	1	0	0	0	12943	1087	38	3	1108	3	PYGL	14	51381466	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	92804	51381466	55968074	790	40428											
PTGER2	5732	broad.mit.edu	37	chr14	52781592	52781592	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcccgagagccgcgcgtGcacctacttcgctttcgcca	5	7	12	17	7	0	1	0	0	0	1	2	2	0	1	4	1	3	2	4	1	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:52781592G>C	ENST00000245457.5	+	1	480	c.326G>C	c.(325-327)tGc>tCc	p.C109S	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	109						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	AGCCGCGCGTGCACCTACTTC	0.647													23	67					0	0	0	0	C	52781592	G	C	52781592	3	2	222	1	0	0	0	0	1	0	0	0	12823	1319	46	4	328	4	PTGER2	14	52781592	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1400126	52781592	54567948	791	40429											
SLC35F4	341880	broad.mit.edu	37	chr14	58056150	58056150	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagatgcccttcagaaccAtggacgtgcaggacaggcag	11	5	12	13	1	1	2	1	0	0	2	1	4	1	4	3	3	3	2	3	3	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:58056150A>G	ENST00000556826.1	-	3	607	c.371T>C	c.(370-372)aTg>aCg	p.M124T	SLC35F4_ENST00000554729.1_Start_Codon_SNP_p.M1T|SLC35F4_ENST00000339762.6_Missense_Mutation_p.M160T	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTCAGAACCATGGACGTGCA	0.443													11	29					0	0	0	0	G	58056150	A	G	58056150	3	3	222	1	0	0	0	0	1	0	0	0	14679	217	8	5	1110	5	SLC35F4	14	58056150	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	5274558	58056150	49293390	792	40430											
DHRS7	51635	broad.mit.edu	37	chr14	60622799	60622799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactcctagtttagacaactGgtaagccagctcctcaccaa	13	9	6	13	0	1	1	1	0	0	1	3	1	3	1	4	1	4	3	4	1	6	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:60622799G>T	ENST00000216500.5	-	3	660	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	DHRS7_ENST00000536410.2_Missense_Mutation_p.Q19K|DHRS7_ENST00000557185.1_Missense_Mutation_p.Q69K|PCNXL4_ENST00000553898.1_Intron|PCNXL4_ENST00000406949.1_Intron			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	69							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TTAGACAACTGGTAAGCCAGC	0.478													23	67					2.89027e-11	5.5888e-11	1	0	T	60622799	G	T	60622799	3	4	222	1	0	0	0	0	1	0	0	0	4532	1357	47	4	838	4	DHRS7	14	60622799	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2566649	60622799	46726741	793	40431											
SGPP1	81537	broad.mit.edu	37	chr14	64152979	64152979	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atattgaagattttgcaggcTaaaggaatggtgatcttttt	12	16	10	3	0	1	3	0	2	1	1	1	4	1	4	0	3	1	2	0	3	5	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:64152979T>A	ENST00000247225.6	-	3	1264	c.1170A>T	c.(1168-1170)ttA>ttT	p.L390F		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	390						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		TTTTGCAGGCTAAAGGAATGG	0.373													23	87					0	0	0	0	A	64152979	T	A	64152979	3	1	222	1	0	0	0	0	1	0	0	0	14306	1519	53	5	159	5	SGPP1	14	64152979	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	3530180	64152979	43196561	794	40432											
ZFP36L1	677	broad.mit.edu	37	chr14	69257126	69257126	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtgcctccgagggaagccCccaccagcaggggtgcccac	8	3	14	16	1	0	0	0	0	0	0	1	3	1	1	6	3	4	1	6	3	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:69257126C>A	ENST00000439696.2	-	2	442	c.141G>T	c.(139-141)ggG>ggT	p.G47G	ZFP36L1_ENST00000336440.3_Silent_p.G47G|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	47					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAGGGAAGCCCCCACCAGCAG	0.612											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	22					0.000274275	0.000441235	1	0	A	69257126	C	A	69257126	2	1	222	1	0	0	0	0	0	0	0	1	17741	610	22	4		4	ZFP36L1	14	69257126	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	5104147	69257126	38092414	795	40433											
PCNX	22990	broad.mit.edu	37	chr14	71555910	71555910	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatctccaatcttaacagtAatttagagtcattcctctat	12	17	3	9	0	4	1	1	0	3	1	6	1	5	1	2	0	1	1	2	0	6	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:71555910A>T	ENST00000304743.2	+	30	5886	c.5438_splice	c.e30-1	p.N1814_splice	PCNX_ENST00000238570.5_Splice_Site_p.N1742_splice|PCNX_ENST00000439984.3_Splice_Site_p.N1703_splice	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1814						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCTTAACAGTAATTTAGAGTC	0.383													14	53					0	0	0	0	T	71555910	A	T	71555910	5	4	222	1	0	0	0	0	0	0	1	0	11662	376	13	5	5558	5	PCNX	14	71555910	Splice_Site	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2298784	71555910	35793630	796	40434											
ABCD4	5826	broad.mit.edu	37	chr14	74759551	74759551	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactcaggatgctgcccagaTagtcaaaggtgttgatgccg	11	9	12	9	1	2	2	2	1	0	1	2	3	2	3	2	2	4	2	2	2	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:74759551T>C	ENST00000356924.4	-	9	979	c.836A>G	c.(835-837)tAt>tGt	p.Y279C	ABCD4_ENST00000557588.1_3'UTR|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Missense_Mutation_p.Y175C|ABCD4_ENST00000557554.1_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	279	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GCTGCCCAGATAGTCAAAGGT	0.537													22	47					0	0	0	0	C	74759551	T	C	74759551	3	2	222	1	0	0	0	0	1	0	0	0	63	1406	49	5	1028	5	ABCD4	14	74759551	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	3203641	74759551	32589989	797	40435											
LTBP2	4053	broad.mit.edu	37	chr14	74969972	74969972	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctccaggcctcgccgTcctggcagcagcattccgtg	4	8	13	16	3	0	0	0	0	0	0	4	0	3	0	5	3	2	5	5	3	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:74969972T>A	ENST00000261978.4	-	33	5224	c.4838A>T	c.(4837-4839)gAc>gTc	p.D1613V	LTBP2_ENST00000556690.1_Missense_Mutation_p.D1569V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1613	TB 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCCTCGCCGTCCTGGCAGCA	0.637													19	35					0	0	0	0	A	74969972	T	A	74969972	3	1	222	1	0	0	0	0	1	0	0	0	9138	1667	58	5	643	5	LTBP2	14	74969972	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	210421	74969972	32379568	798	40436											
FLRT2	23768	broad.mit.edu	37	chr14	86087868	86087868	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacttcagaaatgggcctaCagaccacaaagtggcccagc	13	6	10	12	0	1	2	1	0	0	2	1	2	1	2	3	2	3	1	3	2	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:86087868C>T	ENST00000330753.4	+	2	777	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.Q4*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	4					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)		AATGGGCCTACAGACCACAAA	0.443													24	73					0	0	0	0	T	86087868	C	T	86087868	4	4	222	1	0	0	0	0	0	1	0	0	5984	479	17	4	12	4	FLRT2	14	86087868	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	11117896	86087868	21261672	799	40437											
FLRT2	23768	broad.mit.edu	37	chr14	86088278	86088278	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcttgaagagctgcacctGgatgacaactccatatccac	13	8	8	12	0	0	3	0	2	0	1	2	4	2	4	3	1	4	3	3	1	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:86088278G>C	ENST00000330753.4	+	2	1187	c.420G>C	c.(418-420)ctG>ctC	p.L140L	FLRT2_ENST00000554746.1_Silent_p.L140L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	140					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)		AGCTGCACCTGGATGACAACT	0.488													16	55					0	0	0	0	C	86088278	G	C	86088278	2	2	222	1	0	0	0	0	0	0	0	1	5984	1335	47	4		4	FLRT2	14	86088278	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	410	86088278	21261262	800	40438											
SMEK1	55671	broad.mit.edu	37	chr14	91948115	91948115	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaaacttggctgtttttgtTagaaattccctgtgttttcg	7	20	8	6	1	0	1	0	0	0	1	2	1	1	1	1	1	1	4	1	1	4	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:91948115T>A	ENST00000554684.1	-	4	1216	c.720A>T	c.(718-720)ctA>ctT	p.L240L	SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000337238.4_Silent_p.L240L|SMEK1_ENST00000554943.1_Silent_p.L240L			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	240						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CTGTTTTTGTTAGAAATTCCC	0.338													20	54					0	0	0	0	A	91948115	T	A	91948115	2	1	222	1	0	0	0	0	0	0	0	1	14881	1741	61	5		5	SMEK1	14	91948115	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	5859837	91948115	15401425	801	40439											
RIN3	79890	broad.mit.edu	37	chr14	93118666	93118666	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagacggccctgaggaCacgccccgggagagcacgga	10	2	14	15	4	1	3	1	1	0	2	1	6	1	5	4	4	1	1	4	4	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:93118666C>G	ENST00000216487.7	+	6	1431	c.1272C>G	c.(1270-1272)gaC>gaG	p.D424E	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	424	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCCTGAGGACACGCCCCGGG	0.642													22	50					0	0	0	0	G	93118666	C	G	93118666	3	3	222	1	0	0	0	0	1	0	0	0	13458	477	17	4	1294	4	RIN3	14	93118666	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1170551	93118666	14230874	802	40440											
PRIMA1	145270	broad.mit.edu	37	chr14	94187840	94187840	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgctctgcgaagcacTcatgggatactcagcaacgc	9	11	10	11	2	3	0	2	0	1	0	3	2	3	1	0	1	6	4	0	1	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:94187840T>G	ENST00000393140.1	-	5	514	c.412A>C	c.(412-414)Agt>Cgt	p.S138R	PRIMA1_ENST00000393143.1_Missense_Mutation_p.S138R|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	138					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		TGCGAAGCACTCATGGGATAC	0.587													14	36					0	0	0	0	G	94187840	T	G	94187840	3	3	222	1	0	0	0	0	1	0	0	0	12572	1551	54	5	53	5	PRIMA1	14	94187840	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1069174	94187840	13161700	803	40441											
PPP4R4	57718	broad.mit.edu	37	chr14	94711942	94711942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtactagatgctcttataGatcatcttccagaaatcttg	12	14	7	8	0	4	3	1	0	3	3	5	3	5	3	1	1	2	2	1	1	5	6	rs143566515		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:94711942G>T	ENST00000304338.3	+	13	1517	c.1363G>T	c.(1363-1365)Gat>Tat	p.D455Y		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	455						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGCTCTTATAGATCATCTTCC	0.313													24	66					3.5997e-14	7.42367e-14	1	0	T	94711942	G	T	94711942	3	4	222	1	0	0	0	0	1	0	0	0	12481	942	33	2	1486	2	PPP4R4	14	94711942	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	524102	94711942	12637598	804	40442											
SERPINA4	5267	broad.mit.edu	37	chr14	95033445	95033445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgacagatacttgccctGctcggtgctacggatggatt	8	12	11	10	2	1	2	1	1	0	1	2	4	1	4	1	3	5	2	1	3	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:95033445G>A	ENST00000557004.1	+	3	1209	c.788G>A	c.(787-789)tGc>tAc	p.C263Y	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.C263Y|SERPINA4_ENST00000555095.1_Missense_Mutation_p.C263Y			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	263					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TACTTGCCCTGCTCGGTGCTA	0.493													15	44					0	0	0	0	A	95033445	G	A	95033445	3	1	222	1	0	0	0	0	1	0	0	0	14178	1319	46	4	794	4	SERPINA4	14	95033445	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	321503	95033445	12316095	805	40443											
SERPINA5	5104	broad.mit.edu	37	chr14	95058512	95058512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggctagtgttcaacaGgccctttctgatgttcattg	8	14	10	9	0	4	2	3	1	1	1	4	2	4	2	1	2	1	3	1	2	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:95058512G>T	ENST00000329597.7	+	6	1367	c.1157G>T	c.(1156-1158)aGg>aTg	p.R386M	SERPINA5_ENST00000553780.1_Missense_Mutation_p.R386M|SERPINA3_ENST00000553947.1_Intron|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R386M|SERPINA5_ENST00000554866.1_Missense_Mutation_p.R386M	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	386					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GTGTTCAACAGGCCCTTTCTG	0.557													135	323					8.32301e-65	2.10282e-64	1	0	T	95058512	G	T	95058512	3	4	222	1	0	0	0	0	1	0	0	0	14179	1000	35	4	1171	4	SERPINA5	14	95058512	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	25067	95058512	12291028	806	40444											
GSC	145258	broad.mit.edu	37	chr14	95234860	95234860	+	Nonsense_Mutation	SNP	C	C	A																															gtccaaatcgcttttaccttCctcttccctcttctccggtg																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:95234860C>A	ENST00000238558.3	-	3	951	c.742G>T	c.(742-744)Gaa>Taa	p.E248*		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	248					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		CTTTTACCTTCCTCTTCCCTC	0.562													40	104					8.16277e-20	1.86455e-19	1	0	A	95234860	C	A	95234860	4	1	222	1	0	0	0	0	0	1	0	0	6864	864	30	2	35	2	GSC	14	95234860	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	176348	95234860	12114680	807	40445	306	2									
GSC	145258	broad.mit.edu	37	chr14	95234861	95234861	+	Missense_Mutation	SNP	C	C	A																															tccaaatcgcttttaccttcCtcttccctcttctccggtga																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:95234861C>A	ENST00000238558.3	-	3	950	c.741G>T	c.(739-741)gaG>gaT	p.E247D		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	247					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		TTTTACCTTCCTCTTCCCTCT	0.562													39	104					8.16277e-20	1.86455e-19	1	0	A	95234861	C	A	95234861	3	1	222	1	0	0	0	0	1	0	0	0	6864	680	24	4	36	4	GSC	14	95234861	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1	95234861	12114679	808	40446	306	2									
DICER1	23405	broad.mit.edu	37	chr14	95582111	95582111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccatgacaggatcaatGtcagtctcaccagtatcaac	13	10	6	12	0	5	1	5	1	1	0	7	2	6	2	2	1	1	1	2	1	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:95582111G>T	ENST00000526495.1	-	13	2091	c.1800C>A	c.(1798-1800)gaC>gaA	p.D600E	DICER1_ENST00000343455.3_Missense_Mutation_p.D600E|DICER1_ENST00000393063.1_Missense_Mutation_p.D600E|DICER1_ENST00000527414.1_Missense_Mutation_p.D600E|DICER1_ENST00000541352.1_Missense_Mutation_p.D600E			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	600	Helicase C-terminal.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAGGATCAATGTCAGTCTCAC	0.433			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				24	44					2.39556e-15	5.06335e-15	1	0	T	95582111	G	T	95582111	3	4	222	1	0	0	0	0	1	0	0	0	4558	1368	48	4	4036	4	DICER1	14	95582111	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	347250	95582111	11767429	809	40447											
NDN	4692	broad.mit.edu	37	chr15	23931753	23931753	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacggcgctctctctggcGccgcggcccttcacgtagat	5	8	12	16	6	3	2	1	0	2	2	4	2	3	2	2	3	0	2	2	3	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:23931753G>T	ENST00000331837.4	-	1	697	c.612C>A	c.(610-612)ggC>ggA	p.G204G		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	204	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCTCTCTGGCGCCGCGGCCCT	0.657									Prader-Willi syndrome				10	25					2.17888e-05	3.61849e-05	1	0	T	23931753	G	T	23931753	2	4	222	1	0	0	0	0	0	0	0	1	10317	1074	38	3		3	NDN	15	23931753	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08		23931753	78599639	810	40448											
GABRB3	2562	broad.mit.edu	37	chr15	26806276	26806276	+	Frame_Shift_Del	DEL	C	C	-																															ggggattttgggcaaggtctCccgaaggtgggtgttgatgg																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:26806276delC	ENST00000541819.2	-	9	1153	c.1051delG	c.(1051-1053)agfs	p.E351fs	GABRB3_ENST00000545868.1_Frame_Shift_Del_p.E210fs|GABRB3_ENST00000400188.3_Frame_Shift_Del_p.E224fs|GABRB3_ENST00000299267.4_Frame_Shift_Del_p.E295fs|GABRB3_ENST00000311550.5_Frame_Shift_Del_p.E295fs			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	295					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	GGCAAGGTCTCCCGAAGGTGG	0.473													28	51	---	---	---	---					-	26806276	C	-	26806276	7	5	222	1	0	1	0	1	0	0	0	0	6216	864	30	0	546	0	GABRB3	15	26806276	Frame_Shift_Del	DEL	C	TCGA-CR-7402-01A-11D-2012-08	2874523	26806276	75725116	811	40449											
CHRFAM7A	89832	broad.mit.edu	37	chr15	30665184	30665184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtctcatggcttacccaCtaggtcccattctccattgg	7	14	7	13	0	2	0	1	0	2	0	5	0	3	0	3	3	1	1	3	3	3	5	rs144150663		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:30665184C>A	ENST00000397827.3	-	5	826	c.52G>T	c.(52-54)Gtg>Ttg	p.V18L	CHRFAM7A_ENST00000299847.2_Missense_Mutation_p.V109L|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.V18L	NM_148911.1	NP_683709.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	109						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		GGCTTACCCACTAGGTCCCAT	0.502													41	84					1.00001e-27	2.42009e-27	1	0	A	30665184	C	A	30665184	3	1	222	1	0	0	0	0	1	0	0	0	3404	565	20	4	933	4	CHRFAM7A	15	30665184	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3858908	30665184	71866208	812	40450											
RYR3	6263	broad.mit.edu	37	chr15	34040373	34040373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaaaccatgctggctgtggGctggactgtggagaggacca	10	7	16	8	0	0	1	0	0	0	1	0	5	0	3	2	5	2	3	2	5	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:34040373G>A	ENST00000389232.4	+	54	8118	c.8048G>A	c.(8047-8049)gGc>gAc	p.G2683D	RYR3_ENST00000415757.3_Missense_Mutation_p.G2683D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2683	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGGCTGTGGGCTGGACTGTG	0.522													22	28					0	0	0	0	A	34040373	G	A	34040373	3	1	222	1	0	0	0	0	1	0	0	0	13855	1203	42	4	8262	4	RYR3	15	34040373	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3375189	34040373	68491019	813	40451											
PLA2G4F	255189	broad.mit.edu	37	chr15	42442599	42442599	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccacagaacactgttccTcctggcctaggggcagagag	9	6	14	12	0	0	2	0	0	0	2	2	3	2	2	4	4	1	2	4	4	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:42442599T>G	ENST00000397272.3	-	9	948	c.857A>C	c.(856-858)gAg>gCg	p.E286A	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.E286A	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	286					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		ACACTGTTCCTCCTGGCCTAG	0.627													9	14					0	0	0	0	G	42442599	T	G	42442599	3	3	222	1	0	0	0	0	1	0	0	0	12078	1551	54	5	1740	5	PLA2G4F	15	42442599	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	8402226	42442599	60088793	814	40452											
SPG11	80208	broad.mit.edu	37	chr15	44888469	44888469	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcgctgtccattttggAggtgggcactgagggcaagt	7	12	15	7	1	0	2	0	2	0	0	2	3	1	3	1	4	0	3	1	4	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:44888469A>G	ENST00000261866.7	-	25	4262	c.4246T>C	c.(4246-4248)Tcc>Ccc	p.S1416P	SPG11_ENST00000535302.2_Missense_Mutation_p.S1416P|SPG11_ENST00000558319.1_Missense_Mutation_p.S1416P|SPG11_ENST00000427534.2_Missense_Mutation_p.S1416P	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1416					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCCATTTTGGAGGTGGGCACT	0.463													3	93					0	0	0	0	G	44888469	A	G	44888469	3	3	222	1	0	0	0	0	1	0	0	0	15131	304	11	5	3149	5	SPG11	15	44888469	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2445870	44888469	57642923	815	40453											
SLC12A1	6557	broad.mit.edu	37	chr15	48577336	48577336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attagaacaggagagactagCattggaagcgactatcaaag	17	7	11	6	1	1	2	1	0	0	2	1	6	1	4	0	2	3	1	0	2	6	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:48577336C>A	ENST00000396577.3	+	21	2734	c.2519C>A	c.(2518-2520)gCa>gAa	p.A840E	SLC12A1_ENST00000558405.1_Missense_Mutation_p.A840E|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A840E	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	840					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GAGAGACTAGCATTGGAAGCG	0.373													28	43					1.39806e-14	2.9171e-14	1	0	A	48577336	C	A	48577336	3	1	222	1	0	0	0	0	1	0	0	0	14470	710	25	4	2697	4	SLC12A1	15	48577336	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3688867	48577336	53954056	816	40454											
HDC	3067	broad.mit.edu	37	chr15	50534984	50534984	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgggagatgaggttccCaacccgagggctgggttggg	7	9	18	7	1	0	2	0	1	0	1	1	5	1	2	2	5	1	3	2	5	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:50534984C>A	ENST00000267845.3	-	12	1864	c.1462G>T	c.(1462-1464)Ggg>Tgg	p.G488W	HDC_ENST00000543581.1_Missense_Mutation_p.G455W	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	488					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ATGAGGTTCCCAACCCGAGGG	0.567													16	30					1.5739e-10	3.00178e-10	1	0	A	50534984	C	A	50534984	3	1	222	1	0	0	0	0	1	0	0	0	7065	594	21	4	530	4	HDC	15	50534984	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1957648	50534984	51996408	817	40455											
ITGA11	22801	broad.mit.edu	37	chr15	68650827	68650827	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggccaatgtaaaactttTtcaggatgttgatgaggaag	12	12	12	5	0	1	2	1	2	0	0	1	4	1	4	1	3	1	2	1	3	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:68650827T>C	ENST00000423218.2	-	6	664	c.569A>G	c.(568-570)aAa>aGa	p.K190R	ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Missense_Mutation_p.K190R			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	190	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GTAAAACTTTTTCAGGATGTT	0.542													6	13					0	0	0	0	C	68650827	T	C	68650827	3	2	222	1	0	0	0	0	1	0	0	0	7927	1841	64	5	3097	5	ITGA11	15	68650827	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	18115843	68650827	33880565	818	40456											
TLE3	7090	broad.mit.edu	37	chr15	70351092	70351092	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcatcttttttcaggctacgGgccttgtccagcccattttc	5	15	8	13	1	2	0	1	0	1	0	4	0	3	0	3	2	2	2	3	2	1	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:70351092G>A	ENST00000558939.1	-	11	2205	c.828C>T	c.(826-828)gcC>gcT	p.A276A	TLE3_ENST00000559191.1_Intron|TLE3_ENST00000317509.8_Silent_p.A276A|TLE3_ENST00000440567.3_Silent_p.A269A|TLE3_ENST00000442299.2_Silent_p.A276A|TLE3_ENST00000558201.1_Silent_p.A282A|TLE3_ENST00000557907.1_Silent_p.A276A|TLE3_ENST00000539550.1_Silent_p.A220A|TLE3_ENST00000559048.1_Silent_p.A281A|TLE3_ENST00000451782.2_Silent_p.A276A|TLE3_ENST00000558379.1_Silent_p.A276A|TLE3_ENST00000560939.1_Silent_p.A281A|TLE3_ENST00000560589.1_Silent_p.A220A|TLE3_ENST00000559929.1_Silent_p.A286A|TLE3_ENST00000557997.1_Silent_p.A276A			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	276	Pro/Ser-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.A276A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCAGGCTACGGGCCTTGTCCA	0.582													5	2					0	0	0	0	A	70351092	G	A	70351092	2	1	222	1	0	0	0	0	0	0	0	1	16034	1219	43	4		4	TLE3	15	70351092	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1700265	70351092	32180300	819	40457											
STRA6	64220	broad.mit.edu	37	chr15	74490147	74490147	+	Frame_Shift_Del	DEL	G	G	-																															ggtggtatgctggtgtggcaGgagggcacttccctgcagag																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:74490147delG	ENST00000323940.5	-	3	371	c.126delC	c.(124-126)tcfs	p.S42fs	STRA6_ENST00000395105.4_Frame_Shift_Del_p.S42fs|STRA6_ENST00000535552.1_Frame_Shift_Del_p.S79fs|STRA6_ENST00000423167.2_Frame_Shift_Del_p.S42fs|STRA6_ENST00000449139.2_Frame_Shift_Del_p.S42fs|STRA6_ENST00000563965.1_Frame_Shift_Del_p.S81fs|STRA6_ENST00000432245.2_Frame_Shift_Del_p.S42fs|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000416286.3_Frame_Shift_Del_p.S42fs|STRA6_ENST00000574278.1_Frame_Shift_Del_p.S57fs	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	42					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TGGTGTGGCAGGAGGGCACTT	0.622													15	25	---	---	---	---					-	74490147	G	-	74490147	7	5	222	1	0	1	0	1	0	0	0	0	15412	987	35	0	1995	0	STRA6	15	74490147	Frame_Shift_Del	DEL	G	TCGA-CR-7402-01A-11D-2012-08	4139055	74490147	28041245	820	40458											
UBE2Q2	92912	broad.mit.edu	37	chr15	76171514	76171514	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcatagaatatattttgctTaacttctcttttaaggtaag	12	17	7	5	0	1	1	0	0	1	1	2	1	1	1	0	2	2	3	0	2	7	10			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:76171514T>G	ENST00000267938.4	+	8	1192	c.810T>G	c.(808-810)ctT>ctG	p.L270L	UBE2Q2_ENST00000569423.1_Silent_p.L235L|UBE2Q2_ENST00000338677.4_Silent_p.L270L|UBE2Q2_ENST00000561851.1_Silent_p.L254L	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	270					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						ATATTTTGCTTAACTTCTCTT	0.343													12	20					0	0	0	0	G	76171514	T	G	76171514	2	3	222	1	0	0	0	0	0	0	0	1	16966	1741	61	5		5	UBE2Q2	15	76171514	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1681367	76171514	26359878	821	40459											
ACAN	176	broad.mit.edu	37	chr15	89401765	89401765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcattctggatttctggaCctaagtgggctgcagtccgg	7	11	14	9	1	2	0	0	0	2	0	3	3	3	2	2	4	2	3	2	4	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:89401765C>A	ENST00000439576.2	+	12	6323	c.5949C>A	c.(5947-5949)gaC>gaA	p.D1983E	ACAN_ENST00000352105.7_Missense_Mutation_p.D1983E|ACAN_ENST00000561243.1_Missense_Mutation_p.D1983E|ACAN_ENST00000559004.1_Missense_Mutation_p.D1983E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1983					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GATTTCTGGACCTAAGTGGGC	0.542													29	37					1.16021e-09	2.17664e-09	1	0	A	89401765	C	A	89401765	3	1	222	1	0	0	0	0	1	0	0	0	117	506	18	4	5991	4	ACAN	15	89401765	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	13230251	89401765	13129627	822	40460											
MESP2	145873	broad.mit.edu	37	chr15	90320436	90320436	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggctgtccctggacgcagtCgtccccagagccccggaacc	7	5	12	17	3	0	1	0	0	0	1	3	3	2	3	6	3	2	2	6	3	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:90320436C>G	ENST00000341735.3	+	1	848	c.848C>G	c.(847-849)tCg>tGg	p.S283W	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	283					Notch signaling pathway	nucleus	DNA binding			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)			TGGACGCAGTCGTCCCCAGAG	0.647													10	7					0	0	0	0	G	90320436	C	G	90320436	3	3	222	1	0	0	0	0	1	0	0	0	9552	893	31	3	850	3	MESP2	15	90320436	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	918671	90320436	12210956	823	40461											
PCSK6	5046	broad.mit.edu	37	chr15	101872152	101872152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgagagctccagcatcCgcgagcgggactgatgggca	8	5	17	11	3	0	2	0	2	0	1	2	5	2	3	2	3	3	4	2	3	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:101872152C>T	ENST00000348070.1	-	15	1939	c.1940G>A	c.(1939-1941)cGg>cAg	p.R647Q	PCSK6_ENST00000358417.3_Missense_Mutation_p.R647Q|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	648					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCCAGCATCCGCGAGCGGGA	0.567													12	19					0	0	0	0	T	101872152	C	T	101872152	3	4	222	1	0	0	0	0	1	0	0	0	11675	652	23	1	1231	1	PCSK6	15	101872152	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	11551716	101872152	659240	824	40462											
OR4F6	390648	broad.mit.edu	37	chr15	102346444	102346444	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgtggccctaatgaattAgatagtttcttttgtgatct	8	19	8	6	0	3	3	0	2	3	1	3	3	3	3	1	1	0	1	1	1	4	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:102346444A>T	ENST00000328882.4	+	1	543	c.522A>T	c.(520-522)ttA>ttT	p.L174F		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D175fs*15(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTAATGAATTAGATAGTTTCT	0.373													48	80					0	0	0	0	T	102346444	A	T	102346444	3	4	222	1	0	0	0	0	1	0	0	0	11137	417	15	5	524	5	OR4F6	15	102346444	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	474292	102346444	184948	825	40463											
TMEM8A	58986	broad.mit.edu	37	chr16	422106	422106	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcggcagcagcaaggctgCgctcccggccagcaggatgt	7	5	16	13	3	0	0	0	0	0	0	1	1	1	1	2	5	4	6	2	5	1	0	rs150493488		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:422106C>G	ENST00000431232.2	-	13	2357	c.2197G>C	c.(2197-2199)Gca>Cca	p.A733P	TMEM8A_ENST00000250930.3_Missense_Mutation_p.A540P	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	733					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGCAAGGCTGCGCTCCCGGCC	0.607													55	62					0	0	0	0	G	422106	C	G	422106	3	3	222	1	0	0	0	0	1	0	0	0	16308	768	27	3	122	3	TMEM8A	16	422106	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08		422106	89932647	826	40464											
PKD1	5310	broad.mit.edu	37	chr16	2159077	2159077	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaacagccccgcggccaCgggcgtgtaggtgacgtcgc	6	5	14	16	6	0	1	0	1	0	0	2	1	1	1	4	3	2	1	4	3	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:2159077C>A	ENST00000262304.4	-	15	6299	c.6091G>T	c.(6091-6093)Gtg>Ttg	p.V2031L	PKD1_ENST00000423118.1_Missense_Mutation_p.V2031L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2031	PKD 16.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCGCGGCCACGGGCGTGTAG	0.677													45	48					2.215e-12	4.36039e-12	1	0	A	2159077	C	A	2159077	3	1	222	1	0	0	0	0	1	0	0	0	12035	536	19	3	6948	3	PKD1	16	2159077	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1736971	2159077	88195676	827	40465											
PKD1	5310	broad.mit.edu	37	chr16	2167056	2167056	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccacacgtctaggctccTgggggcgggtgtgggatggc	5	8	18	10	2	1	0	0	0	1	0	3	2	3	1	2	6	0	1	2	6	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:2167056T>C	ENST00000262304.4	-	7	1594		c.e7-2		PKD1_ENST00000423118.1_Splice_Site	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)						calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTAGGCTCCTGGGGGCGGGT	0.682													9	15					0	0	0	0	C	2167056	T	C	2167056	5	2	222	1	0	0	0	0	0	0	1	0	12035	1594	55	5	11687	5	PKD1	16	2167056	Splice_Site	SNP	T	TCGA-CR-7402-01A-11D-2012-08	7979	2167056	88187697	828	40466											
ABCA3	21	broad.mit.edu	37	chr16	2329015	2329015	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagtgttctccacgcaggcCccgatgtggcgctcagggat	7	8	14	12	3	2	1	1	0	1	1	3	3	2	2	3	3	0	3	3	3	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:2329015C>T	ENST00000301732.5	-	29	5176	c.4476G>A	c.(4474-4476)ggG>ggA	p.G1492G	ABCA3_ENST00000382381.3_Silent_p.G1434G	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1492	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCACGCAGGCCCCGATGTGGC	0.652													41	104					0	0	0	0	T	2329015	C	T	2329015	2	4	222	1	0	0	0	0	0	0	0	1	33	610	22	4		4	ABCA3	16	2329015	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	161959	2329015	88025738	829	40467											
AMDHD2	51005	broad.mit.edu	37	chr16	2578355	2578355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccaaccccgccgccctgcGgatcgcccaccgtgcccatc	6	4	8	23	5	0	0	0	0	0	0	2	1	0	1	8	1	3	0	8	1	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:2578355G>C	ENST00000302956.4	+	7	930	c.836G>C	c.(835-837)cGg>cCg	p.R279P	AMDHD2_ENST00000413459.3_Missense_Mutation_p.R279P|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000293971.6_Missense_Mutation_p.R279P			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	279					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GCCGCCCTGCGGATCGCCCAC	0.672													15	68					0	0	0	0	C	2578355	G	C	2578355	3	2	222	1	0	0	0	0	1	0	0	0	568	1116	39	3	862	3	AMDHD2	16	2578355	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	249340	2578355	87776398	830	40468											
MEFV	4210	broad.mit.edu	37	chr16	3306443	3306443	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggccatcttcaccggccTggctctctggatctggctcc	4	11	11	15	1	4	0	1	0	3	0	6	1	5	1	4	5	0	2	4	5	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:3306443T>G	ENST00000219596.1	-	1	184	c.145A>C	c.(145-147)Agg>Cgg	p.R49R	MEFV_ENST00000536379.1_Silent_p.R49R|MEFV_ENST00000339854.4_Silent_p.R49R|MEFV_ENST00000541159.1_Silent_p.R49R	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	49	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TTCACCGGCCTGGCTCTCTGG	0.602													68	85					0	0	0	0	G	3306443	T	G	3306443	2	3	222	1	0	0	0	0	0	0	0	1	9528	1579	55	5		5	MEFV	16	3306443	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	728088	3306443	87048310	831	40469											
GRIN2A	2903	broad.mit.edu	37	chr16	9923416	9923416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatgatcttgctggtggtcCctttaggattctggacaggc	6	13	12	10	0	2	1	0	1	2	0	3	3	3	3	2	5	1	1	2	5	1	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:9923416C>G	ENST00000396573.2	-	10	2180	c.1871G>C	c.(1870-1872)gGg>gCg	p.G624A	GRIN2A_ENST00000535259.1_Missense_Mutation_p.G467A|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G624A|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G624A|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G624A|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G624A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	624					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCTGGTGGTCCCTTTAGGATT	0.493													18	85					0	0	0	0	G	9923416	C	G	9923416	3	3	222	1	0	0	0	0	1	0	0	0	6829	623	22	4	2543	4	GRIN2A	16	9923416	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	6616973	9923416	80431337	832	40470											
CIITA	4261	broad.mit.edu	37	chr16	10971201	10971201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacacaatgcgttgcctggCtccacgccctgctgggtcct	5	10	10	16	2	0	0	0	0	0	0	2	0	2	0	4	2	4	3	4	2	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:10971201C>T	ENST00000324288.8	+	1	147	c.14C>T	c.(13-15)gCt>gTt	p.A5V	CIITA_ENST00000381835.5_Missense_Mutation_p.A5V|RP11-876N24.2_ENST00000573071.1_RNA|CIITA_ENST00000537380.1_3'UTR|RP11-876N24.2_ENST00000572017.1_RNA	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	5					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CGTTGCCTGGCTCCACGCCCT	0.602			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								6	13					0	0	0	0	T	10971201	C	T	10971201	3	4	222	1	0	0	0	0	1	0	0	0	3457	797	28	4	16	4	CIITA	16	10971201	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1047785	10971201	79383552	833	40471											
LITAF	9516	broad.mit.edu	37	chr16	11647435	11647435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaggtcagagcaccggCgttataggacagctgactca	11	6	12	12	2	2	2	2	1	0	1	2	3	2	3	2	3	3	3	2	3	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:11647435C>A	ENST00000571688.1	-	3	561	c.331G>T	c.(331-333)Gcc>Tcc	p.A111S	LITAF_ENST00000572255.1_Missense_Mutation_p.A18S|LITAF_ENST00000571459.1_Intron|LITAF_ENST00000576036.1_Missense_Mutation_p.A111S|LITAF_ENST00000571976.1_Missense_Mutation_p.A111S|LITAF_ENST00000574763.1_Missense_Mutation_p.A111S|LITAF_ENST00000570904.1_Missense_Mutation_p.A111S|LITAF_ENST00000381810.3_Missense_Mutation_p.A111S|LITAF_ENST00000339430.5_Missense_Mutation_p.A111S|LITAF_ENST00000413364.2_Missense_Mutation_p.A111S	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	111					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						AGAGCACCGGCGTTATAGGAC	0.592													13	39					9.31168e-06	1.56773e-05	1	0	A	11647435	C	A	11647435	3	1	222	1	0	0	0	0	1	0	0	0	8885	768	27	3	248	3	LITAF	16	11647435	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	676234	11647435	78707318	834	40472											
GP2	2813	broad.mit.edu	37	chr16	20327337	20327337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgatggccggtacttcaCtgcggacttgacttcttgag	6	12	13	10	3	2	2	1	2	1	0	3	4	2	3	1	4	2	1	1	4	1	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:20327337C>A	ENST00000302555.5	-	9	1591	c.1442G>T	c.(1441-1443)aGt>aTt	p.S481I	GP2_ENST00000341642.5_Missense_Mutation_p.S334I|GP2_ENST00000381362.4_Missense_Mutation_p.S484I|GP2_ENST00000381360.5_Missense_Mutation_p.S337I			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	484	ZP.					anchored to membrane|extracellular region|plasma membrane				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						CGGTACTTCACTGCGGACTTG	0.483													24	85					2.79863e-10	5.31686e-10	1	0	A	20327337	C	A	20327337	3	1	222	1	0	0	0	0	1	0	0	0	6631	565	20	4	174	4	GP2	16	20327337	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	8679902	20327337	70027416	835	40473											
PDILT	204474	broad.mit.edu	37	chr16	20370759	20370759	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagcgggctcttccagcttgGatacgtacttggtcatgttc	6	13	11	11	2	2	0	1	0	1	0	4	1	3	1	1	3	4	4	1	3	2	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:20370759G>C	ENST00000302451.4	-	12	1885	c.1637C>G	c.(1636-1638)tCc>tGc	p.S546C		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	546					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTCCAGCTTGGATACGTACTT	0.512													50	245					0	0	0	0	C	20370759	G	C	20370759	3	2	222	1	0	0	0	0	1	0	0	0	11745	1174	41	2	121	2	PDILT	16	20370759	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	43422	20370759	69983994	836	40474											
ACSM5	54988	broad.mit.edu	37	chr16	20442556	20442556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccagattgtggatgatgaGggcaacgtcctgcctcctgg	8	10	13	10	1	0	3	0	2	0	1	2	4	2	4	4	3	3	1	4	3	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:20442556G>A	ENST00000331849.4	+	10	1368	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	407					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGGATGATGAGGGCAACGTCC	0.557													37	129					0	0	0	0	A	20442556	G	A	20442556	2	1	222	1	0	0	0	0	0	0	0	1	187	991	35	4		4	ACSM5	16	20442556	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	71797	20442556	69912197	837	40475											
DNAH3	55567	broad.mit.edu	37	chr16	20948070	20948070	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatggctggcactttaccCacaagcatgctgttaaagac	12	9	8	12	0	0	1	0	0	0	1	0	1	0	1	1	2	3	5	1	2	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:20948070C>T	ENST00000261383.3	-	60	11759	c.11760G>A	c.(11758-11760)gtG>gtA	p.V3920V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3920					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCACTTTACCCACAAGCATGC	0.572													7	17					0	0	0	0	T	20948070	C	T	20948070	2	4	222	1	0	0	0	0	0	0	0	1	4640	581	21	4		4	DNAH3	16	20948070	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	505514	20948070	69406683	838	40476											
VWA3A	146177	broad.mit.edu	37	chr16	22126703	22126703	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgggtaaagacgctgcAgcctgatggaggcagcaacc	10	6	14	11	1	1	2	0	1	1	1	1	3	1	3	2	3	4	6	2	3	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:22126703A>G	ENST00000389398.5	+	9	821	c.725A>G	c.(724-726)cAg>cGg	p.Q242R	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	242						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AAGACGCTGCAGCCTGATGGA	0.463													3	17					0	0	0	0	G	22126703	A	G	22126703	3	3	222	1	0	0	0	0	1	0	0	0	17336	188	7	5	759	5	VWA3A	16	22126703	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1178633	22126703	68228050	839	40477											
CHP2	63928	broad.mit.edu	37	chr16	23768878	23768878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagatggacgttgagcaaAaaatgagcatccggatcctg	15	7	12	7	2	0	4	0	2	0	2	2	6	2	6	2	2	2	3	2	2	4	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:23768878A>G	ENST00000300113.2	+	7	988	c.565A>G	c.(565-567)Aaa>Gaa	p.K189E		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	189							calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CGTTGAGCAAAAAATGAGCAT	0.527													57	177					0	0	0	0	G	23768878	A	G	23768878	3	3	222	1	0	0	0	0	1	0	0	0	3396	15	1	5	591	5	CHP2	16	23768878	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1642175	23768878	66585875	840	40478											
SPN	6693	broad.mit.edu	37	chr16	29675891	29675891	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgtggcgccggcggcAgaagcggcggactggggccc	4	4	19	14	5	0	1	0	0	0	1	0	2	0	2	3	7	2	2	3	7	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:29675891A>C	ENST00000360121.3	+	2	934	c.842A>C	c.(841-843)cAg>cCg	p.Q281P	AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Missense_Mutation_p.Q281P	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	281					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CGCCGGCGGCAGAAGCGGCGG	0.697													8	20					0	0	0	0	C	29675891	A	C	29675891	3	2	222	1	0	0	0	0	1	0	0	0	15163	188	7	5	844	5	SPN	16	29675891	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	5907013	29675891	60678862	841	40479											
TBX6	6911	broad.mit.edu	37	chr16	30100304	30100304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttggtgagcttgacaCgatggaaagacacaggctgc	10	9	14	8	1	0	3	0	2	0	1	0	5	0	4	0	3	3	4	0	3	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:30100304C>T	ENST00000553607.1	-	3	1274	c.581G>A	c.(580-582)cGt>cAt	p.R194H	TBX6_ENST00000279386.2_Missense_Mutation_p.R194H|TBX6_ENST00000395224.2_Missense_Mutation_p.R194H			O95947	TBX6_HUMAN	T-box 6	194					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						GAGCTTGACACGATGGAAAGA	0.647													44	122					0	0	0	0	T	30100304	C	T	30100304	3	4	222	1	0	0	0	0	1	0	0	0	15756	536	19	1	753	1	TBX6	16	30100304	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	424413	30100304	60254449	842	40480											
ZNF629	23361	broad.mit.edu	37	chr16	30794552	30794552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcgcgcaggtgagtcCgctggtgcttgatgagggtg	4	10	18	9	3	0	3	0	3	0	0	3	3	2	3	2	4	1	3	2	4	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:30794552C>A	ENST00000262525.4	-	3	1304	c.1097G>T	c.(1096-1098)cGg>cTg	p.R366L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CAGGTGAGTCCGCTGGTGCTT	0.662													19	25					2.5808e-16	5.60033e-16	1	0	A	30794552	C	A	30794552	3	1	222	1	0	0	0	0	1	0	0	0	18148	652	23	3	1516	3	ZNF629	16	30794552	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	694248	30794552	59560201	843	40481											
CYLD	1540	broad.mit.edu	37	chr16	50811792	50811792	+	Frame_Shift_Del	DEL	G	G	-																															aattattttataccttaaatGggtcttctgttgactcacaa																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:50811792delG	ENST00000540145.1	+	8	1493	c.1078delG	c.(1078-1080)ggfs	p.G360fs	CYLD_ENST00000398568.2_Frame_Shift_Del_p.G357fs|CYLD_ENST00000564326.1_Frame_Shift_Del_p.G357fs|CYLD_ENST00000311559.9_Frame_Shift_Del_p.G360fs|CYLD_ENST00000569418.1_Frame_Shift_Del_p.G357fs|CYLD_ENST00000566206.1_Frame_Shift_Del_p.G357fs|CYLD_ENST00000427738.3_Frame_Shift_Del_p.G360fs|CYLD_ENST00000568704.2_Frame_Shift_Del_p.G357fs			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	360	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.G360L(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TACCTTAAATGGGTCTTCTGT	0.299			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				41	47	---	---	---	---					-	50811792	G	-	50811792	7	5	222	1	0	1	0	1	0	0	0	0	4175	1348	47	0	1100	0	CYLD	16	50811792	Frame_Shift_Del	DEL	G	TCGA-CR-7402-01A-11D-2012-08	20017240	50811792	39542961	844	40482											
SALL1	6299	broad.mit.edu	37	chr16	51175026	51175026	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggacgatgatgagacCgctgggttgctgacatggga	9	8	18	6	2	0	4	0	4	0	1	0	8	0	6	1	4	1	3	1	4	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:51175026C>G	ENST00000440970.1	-	2	1247	c.816G>C	c.(814-816)gcG>gcC	p.A272A	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.A369A	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	369					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATGATGAGACCGCTGGGTTGC	0.512													14	37					0	0	0	0	G	51175026	C	G	51175026	2	3	222	1	0	0	0	0	0	0	0	1	13895	639	23	3		3	SALL1	16	51175026	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	363234	51175026	39179727	845	40483											
IRX6	79190	broad.mit.edu	37	chr16	55360356	55360356	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgctctctgctgcgcacccTacgatagtcgactgctgggc	5	9	11	16	4	1	0	0	0	1	0	3	2	1	0	2	1	4	4	2	1	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:55360356T>A	ENST00000290552.7	+	2	1486	c.154T>A	c.(154-156)Tac>Aac	p.Y52N	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	52						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CTGCGCACCCTACGATAGTCG	0.652													15	15					0	0	0	0	A	55360356	T	A	55360356	3	1	222	1	0	0	0	0	1	0	0	0	7901	1522	53	5	160	5	IRX6	16	55360356	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	4185330	55360356	34994397	846	40484											
CDH11	1009	broad.mit.edu	37	chr16	65016141	65016141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgctgataaacttcgggtCgatgtgcacgttggctgcct	7	13	12	9	3	0	1	0	1	0	0	2	2	0	1	1	2	4	4	1	2	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:65016141C>T	ENST00000394156.3	-	8	1516	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	CDH11_ENST00000566827.1_Missense_Mutation_p.D229N|CDH11_ENST00000268603.4_Missense_Mutation_p.D355N			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	355	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AACTTCGGGTCGATGTGCACG	0.468			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			19	22					0	0	0	0	T	65016141	C	T	65016141	3	4	222	1	0	0	0	0	1	0	0	0	3126	884	31	1	1351	1	CDH11	16	65016141	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	9655785	65016141	25338612	847	40485											
TMED6	146456	broad.mit.edu	37	chr16	69377541	69377541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcaccttttgtgtgccGtcctatgagagagacaattt	8	15	9	9	1	1	2	0	1	1	2	2	4	2	2	3	0	2	1	3	0	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:69377541G>A	ENST00000288025.3	-	4	547	c.492C>T	c.(490-492)gaC>gaT	p.D164D	RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	164					transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						TTTGTGTGCCGTCCTATGAGA	0.428													30	29					0	0	0	0	A	69377541	G	A	69377541	2	1	222	1	0	0	0	0	0	0	0	1	16102	1136	40	1		1	TMED6	16	69377541	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4361400	69377541	20977212	848	40486											
PLCG2	5336	broad.mit.edu	37	chr16	81979842	81979842	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagagctggcttccctcctgGttttctgtgagatgcggcca	5	13	12	11	1	1	2	0	1	1	2	3	3	3	2	3	3	2	3	3	3	1	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:81979842G>C	ENST00000359376.3	+	31	3758	c.3544G>C	c.(3544-3546)Gtt>Ctt	p.V1182L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1182					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCCCTCCTGGTTTTCTGTGA	0.527													24	44					0	0	0	0	C	81979842	G	C	81979842	3	2	222	1	0	0	0	0	1	0	0	0	12108	1261	44	4	3662	4	PLCG2	16	81979842	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	12602301	81979842	8374911	849	40487											
MYO1C	4641	broad.mit.edu	37	chr17	1386207	1386207	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcacggcacctccgcgcTcgggggctgggcaggtctct	3	6	15	17	5	1	0	0	0	1	0	4	0	2	0	3	5	0	5	3	5	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:1386207T>G	ENST00000359786.5	-	4	818	c.494A>C	c.(493-495)gAg>gCg	p.E165A	MYO1C_ENST00000545534.2_Missense_Mutation_p.E141A|MYO1C_ENST00000438665.2_Missense_Mutation_p.E146A|MYO1C_ENST00000575158.1_Missense_Mutation_p.E130A|MYO1C_ENST00000361007.2_Missense_Mutation_p.E130A	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	165	Myosin head-like.			E -> Q (in Ref. 1; CAA67131).	mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCTCCGCGCTCGGGGGCTGG	0.692													13	30					0	0	0	0	G	1386207	T	G	1386207	3	3	222	1	0	0	0	0	1	0	0	0	10140	1551	54	5	2813	5	MYO1C	17	1386207	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08		1386207	79809003	850	40488											
RTN4RL1	146760	broad.mit.edu	37	chr17	1841024	1841025	+	Frame_Shift_Del	DEL	CA	CA	-																															ccgtcatgggcgccgggtagCacacacagtcccgtgggcag																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:1841024_1841025delCA	ENST00000331238.5	-	2	109_110	c.91_92delTG	c.(91-93)cfs	p.C31fs		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	31	LRRNT.				axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CGCCGGGTAGCACACACAGTCC	0.658													13	36	---	---	---	---					-	1841025	CA	-	1841024	7	5	222	1	0	1	0	1	0	0	0	0	13816	710	25	0	1237	0	RTN4RL1	17	1841024	Frame_Shift_Del	DEL	CA	TCGA-CR-7402-01A-11D-2012-08	454817	1841024	79354186	851	40489											
SPNS3	201305	broad.mit.edu	37	chr17	4350211	4350211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtctgggctacgtgctggGgtcggctgtgacgatgctga	4	11	18	8	3	1	2	0	2	1	0	2	3	1	2	0	5	3	4	0	5	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:4350211G>A	ENST00000355530.2	+	5	855	c.575G>A	c.(574-576)gGg>gAg	p.G192E	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.G65E	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	192					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TACGTGCTGGGGTCGGCTGTG	0.652													21	37					0	0	0	0	A	4350211	G	A	4350211	3	1	222	1	0	0	0	0	1	0	0	0	15166	1232	43	4	593	4	SPNS3	17	4350211	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2509187	4350211	76844999	852	40490											
TP53	7157	broad.mit.edu	37	chr17	7577138	7577138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcacctcaaagctgttcCgtcccagtagattaccacta	11	9	6	15	2	1	1	1	0	0	1	3	1	3	1	4	0	2	4	4	0	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:7577138C>G	ENST00000420246.2	-	8	932	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R267P|TP53_ENST00000445888.2_Missense_Mutation_p.R267P|TP53_ENST00000455263.2_Missense_Mutation_p.R267P|TP53_ENST00000359597.4_Missense_Mutation_p.R267P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAAGCTGTTCCGTCCCAGTAG	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	17					0	0	0	0	G	7577138	C	G	7577138	3	3	222	1	0	0	0	0	1	0	0	0	16476	652	23	3	486	3	TP53	17	7577138	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3226927	7577138	73618072	853	40491											
DNAH2	146754	broad.mit.edu	37	chr17	7689567	7689567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaccatgatcgtgggctgCacgggcagcggcaagactgc	8	6	14	13	3	0	2	0	1	0	1	2	2	1	2	2	3	3	4	2	3	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:7689567C>T	ENST00000572933.1	+	40	7715	c.6255C>T	c.(6253-6255)tgC>tgT	p.C2085C	DNAH2_ENST00000389173.2_Silent_p.C2085C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2085	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCGTGGGCTGCACGGGCAGCG	0.577													19	54					0	0	0	0	T	7689567	C	T	7689567	2	4	222	1	0	0	0	0	0	0	0	1	4639	718	25	4		4	DNAH2	17	7689567	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	112429	7689567	73505643	854	40492											
ALOX12B	242	broad.mit.edu	37	chr17	7977057	7977057	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggatcagctcaggcacggttCgcaagcacctagggaagcct	10	6	13	12	2	2	0	2	0	0	0	3	2	2	2	2	4	3	5	2	4	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:7977057C>G	ENST00000319144.4	-	13	1933	c.1673G>C	c.(1672-1674)cGa>cCa	p.R558P	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	558	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGGCACGGTTCGCAAGCACCT	0.627										Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	29					0	0	0	0	G	7977057	C	G	7977057	3	3	222	1	0	0	0	0	1	0	0	0	537	884	31	3	444	3	ALOX12B	17	7977057	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	287490	7977057	73218153	855	40493											
SPDYE4	388333	broad.mit.edu	37	chr17	8656718	8656718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcgaagcttatggaacaagGgtcgctgggagtagttcttc	10	11	13	7	2	1	0	0	0	1	0	4	3	1	2	0	3	2	4	0	3	5	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:8656718G>A	ENST00000328794.6	-	5	751	c.575C>T	c.(574-576)cCc>cTc	p.P192L		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	192										breast(1)|endometrium(2)|kidney(1)	4						ATGGAACAAGGGTCGCTGGGA	0.567													5	14					0	0	0	0	A	8656718	G	A	8656718	3	1	222	1	0	0	0	0	1	0	0	0	15121	1232	43	4	146	4	SPDYE4	17	8656718	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	679661	8656718	72538492	856	40494											
MYH8	4626	broad.mit.edu	37	chr17	10304018	10304018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccagttcccgggagaGgtcagagcgctgcttctccg	5	9	12	15	3	2	2	1	0	1	2	6	3	5	2	4	2	2	3	4	2	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:10304018G>A	ENST00000403437.2	-	27	3518	c.3424C>T	c.(3424-3426)Ctc>Ttc	p.L1142F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1142					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCCGGGAGAGGTCAGAGCGC	0.582									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				48	119					0	0	0	0	A	10304018	G	A	10304018	3	1	222	1	0	0	0	0	1	0	0	0	10111	1000	35	4	2445	4	MYH8	17	10304018	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1647300	10304018	70891192	857	40495											
MYH4	4622	broad.mit.edu	37	chr17	10348361	10348361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcagcctcatccagacGgagctgcagatccttcacgg	8	8	10	15	2	3	2	3	0	0	2	5	3	5	3	3	2	4	3	3	2	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:10348361G>A	ENST00000255381.2	-	37	5508	c.5398C>T	c.(5398-5400)Cgt>Tgt	p.R1800C	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1800					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCATCCAGACGGAGCTGCAGA	0.562													60	111					0	0	0	0	A	10348361	G	A	10348361	3	1	222	1	0	0	0	0	1	0	0	0	10107	1116	39	1	437	1	MYH4	17	10348361	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	44343	10348361	70846849	858	40496											
MYH4	4622	broad.mit.edu	37	chr17	10354160	10354160	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtaaatgcttgtttgcctcgGgatagctgagaaaccatagc	11	11	11	8	1	0	1	0	1	0	1	1	3	0	2	2	1	5	4	2	1	5	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:10354160G>T	ENST00000255381.2	-	29	4028	c.3918C>A	c.(3916-3918)tcC>tcA	p.S1306S	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1306					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTTGCCTCGGGATAGCTGAG	0.393													31	57					1.55811e-20	3.614e-20	1	0	T	10354160	G	T	10354160	2	4	222	1	0	0	0	0	0	0	0	1	10107	1219	43	4		4	MYH4	17	10354160	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5799	10354160	70841050	859	40497											
MYH2	4620	broad.mit.edu	37	chr17	10424725	10424725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcttgcggaatttagCtagattggtgttggattgtt	7	16	14	4	1	0	1	0	0	0	1	0	4	0	4	0	4	3	4	0	4	3	8			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:10424725C>T	ENST00000245503.5	-	40	6082	c.5698G>A	c.(5698-5700)Gct>Act	p.A1900T	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.A667T|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1900T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1900					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGGAATTTAGCTAGATTGGTG	0.473													44	118					0	0	0	0	T	10424725	C	T	10424725	3	4	222	1	0	0	0	0	1	0	0	0	10105	797	28	4	131	4	MYH2	17	10424725	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	70565	10424725	70770485	860	40498											
MYH2	4620	broad.mit.edu	37	chr17	10428788	10428788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtaagtttttgttctctCgcttcagggtttctagctga	5	18	10	8	1	3	1	1	1	2	0	5	1	3	1	0	1	1	7	0	1	2	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:10428788C>T	ENST00000245503.5	-	32	4901	c.4517G>A	c.(4516-4518)cGa>cAa	p.R1506Q	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1506Q	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1506					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1506Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTGTTCTCTCGCTTCAGGGT	0.428													27	74					0	0	0	0	T	10428788	C	T	10428788	3	4	222	1	0	0	0	0	1	0	0	0	10105	884	31	1	1344	1	MYH2	17	10428788	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4063	10428788	70766422	861	40499											
MYH2	4620	broad.mit.edu	37	chr17	10433044	10433044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacctgccatctcttctGtgaggtttttcacctacaaa	9	13	6	13	0	3	2	1	1	2	1	4	2	3	2	4	1	2	1	4	1	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:10433044G>T	ENST00000245503.5	-	24	3338	c.2954C>A	c.(2953-2955)aCa>aAa	p.T985K	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.T985K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	985					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATCTCTTCTGTGAGGTTTTT	0.478													73	152					4.81439e-37	1.19625e-36	1	0	T	10433044	G	T	10433044	3	4	222	1	0	0	0	0	1	0	0	0	10105	1377	48	4	2939	4	MYH2	17	10433044	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4256	10433044	70762166	862	40500											
DNAH9	1770	broad.mit.edu	37	chr17	11522951	11522951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagtggtctcagacactttGagcttcttcaagcaagagtt	11	12	9	9	0	3	3	2	1	2	2	4	3	3	3	0	1	2	3	0	1	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:11522951G>C	ENST00000262442.3	+	6	1271	c.1203G>C	c.(1201-1203)ttG>ttC	p.L401F	DNAH9_ENST00000454412.2_Missense_Mutation_p.L401F|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	401	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGACACTTTGAGCTTCTTCA	0.443													45	103					0	0	0	0	C	11522951	G	C	11522951	3	2	222	1	0	0	0	0	1	0	0	0	4644	1281	45	2	1225	2	DNAH9	17	11522951	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1089907	11522951	69672259	863	40501											
DNAH9	1770	broad.mit.edu	37	chr17	11648295	11648295	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcctgatcggggacctctTtcccgccctggatgtccccc	3	9	12	17	2	1	1	0	1	1	0	4	3	3	3	6	4	0	0	6	4	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:11648295T>A	ENST00000262442.3	+	31	6361	c.6293T>A	c.(6292-6294)tTt>tAt	p.F2098Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.F2098Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2098					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGGACCTCTTTCCCGCCCTG	0.562													18	49					0	0	0	0	A	11648295	T	A	11648295	3	1	222	1	0	0	0	0	1	0	0	0	4644	1841	64	5	6415	5	DNAH9	17	11648295	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	125344	11648295	69546915	864	40502											
MYOCD	93649	broad.mit.edu	37	chr17	12620739	12620739	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taatatgcacatactccaagGtaaggctgcaagaaatcaga	17	8	8	8	0	1	2	1	0	0	2	2	2	2	2	1	2	3	4	1	2	7	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:12620739G>T	ENST00000425538.1	+	4	453		c.e4+1		RP11-746E8.1_ENST00000578952.1_lincRNA|MYOCD_ENST00000343344.4_Splice_Site	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin						cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATACTCCAAGGTAAGGCTGCA	0.443													7	23					0.00198382	0.0031448	1	0	T	12620739	G	T	12620739	5	4	222	1	0	0	0	0	0	0	1	0	10157	1275	44	4	268	4	MYOCD	17	12620739	Splice_Site	SNP	G	TCGA-CR-7402-01A-11D-2012-08	972444	12620739	68574471	865	40503											
ZNF286B	729288	broad.mit.edu	37	chr17	18565409	18565409	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaggcttttccacactcActacatttgtacggtttctt	9	16	6	10	1	2	1	1	1	1	0	3	1	3	1	1	2	2	3	1	2	3	7	rs143494999	by1000genomes	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:18565409A>G	ENST00000545289.1	-	5	1660	c.1410T>C	c.(1408-1410)agT>agC	p.S470S		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						TTCCACACTCACTACATTTGT	0.393													3	36					0	0	0	0	G	18565409	A	G	18565409	2	3	222	1	0	0	0	0	0	0	0	1	17919	156	6	5		5	ZNF286B	17	18565409	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	5944670	18565409	62629801	866	40504											
KCNJ12	3768	broad.mit.edu	37	chr17	21318738	21318738	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcaccatgtcgggcgcCaacggcttcggcaacggcaa	8	6	13	14	5	1	0	1	0	0	0	3	0	1	0	2	5	2	3	2	5	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:21318738C>T	ENST00000583088.1	+	3	979	c.84C>T	c.(82-84)gcC>gcT	p.A28A	KCNJ12_ENST00000331718.5_Silent_p.A28A	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TGTCGGGCGCCAACGGCTTCG	0.657										Prostate(3;0.18)			5	43					0	0	0	0	T	21318738	C	T	21318738	2	4	222	1	0	0	0	0	0	0	0	1	8099	581	21	4		4	KCNJ12	17	21318738	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2753329	21318738	59876472	867	40505											
CCL8	6355	broad.mit.edu	37	chr17	32646545	32646545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttctgcagcgcttctgTgcctgctgctcatggcagcc	4	12	12	13	1	3	0	1	0	2	0	3	0	3	0	2	2	6	6	2	2	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:32646545T>C	ENST00000394620.1	+	1	491	c.25T>C	c.(25-27)Tgc>Cgc	p.C9R		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	9					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				AGCGCTTCTGTGCCTGCTGCT	0.527													35	49					0	0	0	0	C	32646545	T	C	32646545	3	2	222	1	0	0	0	0	1	0	0	0	2936	1696	59	5	27	5	CCL8	17	32646545	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	11327807	32646545	48548665	868	40506											
ACACA	31	broad.mit.edu	37	chr17	35468548	35468548	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctgcggaatttgatttcTactgtcccttctggctccag	5	17	8	11	1	3	1	0	1	3	0	5	2	5	2	2	2	2	1	2	2	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:35468548T>G	ENST00000353139.5	-	52	6964	c.6483A>C	c.(6481-6483)gtA>gtC	p.V2161V	ACACA_ENST00000394406.2_Silent_p.V2124V|ACACA_ENST00000360679.3_Silent_p.V2066V|ACACA_ENST00000335166.5_Silent_p.V2046V|ACACA_ENST00000361253.5_Silent_p.V250V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2124	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATTTGATTTCTACTGTCCCTT	0.458													27	71					0	0	0	0	G	35468548	T	G	35468548	2	3	222	1	0	0	0	0	0	0	0	1	106	1509	53	5		5	ACACA	17	35468548	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2822003	35468548	45726662	869	40507											
RPL23	9349	broad.mit.edu	37	chr17	37009953	37009953	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccagaaacaaaacctcacctCgcttcgacatcttgaacgcc	13	7	5	16	3	2	2	1	1	1	1	4	3	2	2	4	0	3	1	4	0	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:37009953C>G	ENST00000479035.2	-	1	143	c.11G>C	c.(10-12)cGa>cCa	p.R4P	RPL23_ENST00000394333.1_Missense_Mutation_p.R4P|RPL23_ENST00000577407.1_Missense_Mutation_p.R4P|RPL23_ENST00000394332.1_Missense_Mutation_p.R4P	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	4					endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			endometrium(2)|large_intestine(1)	3						AACCTCACCTCGCTTCGACAT	0.562													5	26					0	0	0	0	G	37009953	C	G	37009953	3	3	222	1	0	0	0	0	1	0	0	0	13655	884	31	3	431	3	RPL23	17	37009953	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1541405	37009953	44185257	870	40508											
KRT25	147183	broad.mit.edu	37	chr17	38910665	38910665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatcatcagctgtaagcCtggcattatcgatctgcaga	12	11	9	9	1	3	2	2	1	1	1	4	3	3	2	1	1	3	4	1	1	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:38910665C>T	ENST00000312150.4	-	2	545	c.485G>A	c.(484-486)aGg>aAg	p.R162K		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	162	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AGCTGTAAGCCTGGCATTATC	0.393													27	73					0	0	0	0	T	38910665	C	T	38910665	3	4	222	1	0	0	0	0	1	0	0	0	8514	681	24	4	895	4	KRT25	17	38910665	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1900712	38910665	42284545	871	40509											
KRT12	3859	broad.mit.edu	37	chr17	39019473	39019473	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtccacgttctggcgCtctgcgtccgcgcgcacctg	2	10	14	15	6	2	0	0	0	2	0	4	0	4	0	3	3	1	3	3	3	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:39019473C>A	ENST00000251643.4	-	6	1241	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	406	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity	p.E406D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CGTTCTGGCGCTCTGCGTCCG	0.672													18	26					3.32936e-07	5.84734e-07	1	0	A	39019473	C	A	39019473	3	1	222	1	0	0	0	0	1	0	0	0	8501	796	28	4	278	4	KRT12	17	39019473	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	108808	39019473	42175737	872	40510											
KRTAP1-3	81850	broad.mit.edu	37	chr17	39190992	39190992	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagctggtctcacagcagcTtggctggcagcagctggagc	7	7	15	12	0	1	0	1	0	1	0	2	1	1	1	0	4	6	8	0	4	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:39190992T>C	ENST00000344363.5	-	1	115	c.82A>G	c.(82-84)Agc>Ggc	p.S28G		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	28						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TCACAGCAGCTTGGCTGGCAG	0.597													34	57					0	0	0	0	C	39190992	T	C	39190992	3	2	222	1	0	0	0	0	1	0	0	0	8555	1609	56	5	425	5	KRTAP1-3	17	39190992	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	171519	39190992	42004218	873	40511											
KRT33B	3884	broad.mit.edu	37	chr17	39521745	39521745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggttcaggtccacagcggGagcagcgtccacctccacgt	7	7	12	15	3	1	0	1	0	0	0	4	1	4	1	4	3	3	2	4	3	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:39521745G>T	ENST00000251646.3	-	4	698	c.649C>A	c.(649-651)Ccc>Acc	p.P217T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	217	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCACAGCGGGAGCAGCGTCC	0.557													17	49					4.14922e-12	8.11966e-12	1	0	T	39521745	G	T	39521745	3	4	222	1	0	0	0	0	1	0	0	0	8522	1174	41	2	581	2	KRT33B	17	39521745	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	330753	39521745	41673465	874	40512											
KRT34	3885	broad.mit.edu	37	chr17	39535393	39535393	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgggagctgtagtgggcCtcgctctccgtcagcgtgtt	4	11	15	11	3	2	0	1	0	1	0	4	1	2	1	2	2	3	5	2	2	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:39535393C>A	ENST00000394001.1	-	6	1068	c.1038G>T	c.(1036-1038)gaG>gaT	p.E346D		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	346	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TGTAGTGGGCCTCGCTCTCCG	0.577													39	65					3.66082e-28	8.88146e-28	1	0	A	39535393	C	A	39535393	3	1	222	1	0	0	0	0	1	0	0	0	8523	680	24	4	280	4	KRT34	17	39535393	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	13648	39535393	41659817	875	40513											
FAM134C	162427	broad.mit.edu	37	chr17	40734205	40734205	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcgtcctcatcatccaGgccagcaggatccatattaa	11	10	8	12	1	2	0	2	0	0	0	6	1	5	1	4	2	1	1	4	2	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:40734205G>C	ENST00000309428.5	-	9	1086	c.1027C>G	c.(1027-1029)Ctg>Gtg	p.L343V	FAM134C_ENST00000585894.1_Missense_Mutation_p.L246V|FAM134C_ENST00000543197.1_Missense_Mutation_p.L148V	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	343						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		TCATCATCCAGGCCAGCAGGA	0.567													39	90					0	0	0	0	C	40734205	G	C	40734205	3	2	222	1	0	0	0	0	1	0	0	0	5488	991	35	4	377	4	FAM134C	17	40734205	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1198812	40734205	40461005	876	40514											
RUNDC1	146923	broad.mit.edu	37	chr17	41133041	41133041	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggcgaccccgccagcgatGagggcgatgggctgccaggg	6	3	18	14	5	0	1	0	1	0	0	0	4	0	1	5	4	2	1	5	4	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:41133041G>C	ENST00000361677.1	+	1	460	c.448G>C	c.(448-450)Gag>Cag	p.E150Q		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	150										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CGCCAGCGATGAGGGCGATGG	0.697													4	6					0	0	0	0	C	41133041	G	C	41133041	3	2	222	1	0	0	0	0	1	0	0	0	13827	1291	45	2	450	2	RUNDC1	17	41133041	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	398836	41133041	40062169	877	40515											
ADAM11	4185	broad.mit.edu	37	chr17	42854579	42854579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgaatgtggaggggaCggagcgtgggagctgtgggc	8	6	22	5	2	0	1	0	1	0	0	0	6	0	5	0	6	3	2	0	6	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:42854579C>T	ENST00000200557.6	+	21	1896	c.1727C>T	c.(1726-1728)aCg>aTg	p.T576M	ADAM11_ENST00000535346.1_Missense_Mutation_p.T376M	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	576	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GTGGAGGGGACGGAGCGTGGG	0.647													9	35					0	0	0	0	T	42854579	C	T	42854579	3	4	222	1	0	0	0	0	1	0	0	0	235	536	19	1	1809	1	ADAM11	17	42854579	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1721538	42854579	38340631	878	40516											
EFTUD2	9343	broad.mit.edu	37	chr17	42931930	42931930	+	Silent	SNP	G	G	A																															cagttctgctgtacctcagaGggcagagtatcatccaccag																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:42931930G>A	ENST00000426333.2	-	22	2550	c.2253C>T	c.(2251-2253)ccC>ccT	p.P751P	EFTUD2_ENST00000591382.1_Silent_p.P751P|EFTUD2_ENST00000592576.1_Silent_p.P741P|EFTUD2_ENST00000402521.3_Silent_p.P716P	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	751						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GTACCTCAGAGGGCAGAGTAT	0.522													26	101					0	0	0	0	A	42931930	G	A	42931930	2	1	222	1	0	0	0	0	0	0	0	1	4997	987	35	4		4	EFTUD2	17	42931930	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	77351	42931930	38263280	879	40517	307	2									
EFTUD2	9343	broad.mit.edu	37	chr17	42931931	42931931	+	Missense_Mutation	SNP	G	G	A																															agttctgctgtacctcagagGgcagagtatcatccaccaga																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:42931931G>A	ENST00000426333.2	-	22	2549	c.2252C>T	c.(2251-2253)cCc>cTc	p.P751L	EFTUD2_ENST00000591382.1_Missense_Mutation_p.P751L|EFTUD2_ENST00000592576.1_Missense_Mutation_p.P741L|EFTUD2_ENST00000402521.3_Missense_Mutation_p.P716L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	751						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TACCTCAGAGGGCAGAGTATC	0.517													26	98					0	0	0	0	A	42931931	G	A	42931931	3	1	222	1	0	0	0	0	1	0	0	0	4997	1232	43	4	694	4	EFTUD2	17	42931931	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1	42931931	38263279	880	40518	307	2									
UTP18	51096	broad.mit.edu	37	chr17	49353297	49353297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatctgtgcagttccatcCcggtgcacagattgtgatgg	7	12	11	11	1	2	2	1	1	1	1	4	2	4	2	2	2	2	3	2	2	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:49353297C>A	ENST00000225298.7	+	6	839	c.782C>A	c.(781-783)cCc>cAc	p.P261H		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	261					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CAGTTCCATCCCGGTGCACAG	0.383													14	21					2.32078e-09	4.3249e-09	1	0	A	49353297	C	A	49353297	3	1	222	1	0	0	0	0	1	0	0	0	17194	623	22	4	804	4	UTP18	17	49353297	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	6421366	49353297	31841913	881	40519											
MSI2	124540	broad.mit.edu	37	chr17	55607074	55607074	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgtttgataaaactaccaAcaggcacagaggtaagatta	17	9	9	6	0	0	3	0	1	0	2	0	4	0	3	1	2	3	3	1	2	6	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:55607074A>G	ENST00000284073.2	+	7	652	c.443A>G	c.(442-444)aAc>aGc	p.N148S	MSI2_ENST00000322684.3_Missense_Mutation_p.N144S|MSI2_ENST00000416426.2_Missense_Mutation_p.N126S|MSI2_ENST00000442934.2_Missense_Mutation_p.N87S|MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000579180.1_Missense_Mutation_p.N44S	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	148	RRM 2.					cytoplasm	nucleotide binding|RNA binding	p.N144S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AAAACTACCAACAGGCACAGA	0.428			T	HOXA9	CML								13	30					0	0	0	0	G	55607074	A	G	55607074	3	3	222	1	0	0	0	0	1	0	0	0	9946	43	2	5	519	5	MSI2	17	55607074	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	6253777	55607074	25588136	882	40520											
C17orf47	284083	broad.mit.edu	37	chr17	56619276	56619276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcccataggagggaaaagCacagaccttttagccaccag	13	5	12	11	0	0	1	0	0	0	1	0	3	0	3	4	3	2	1	4	3	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:56619276C>A	ENST00000321691.3	-	2	1794	c.1613G>T	c.(1612-1614)tGc>tTc	p.C538F	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	538										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGGGAAAAGCACAGACCTTT	0.493													46	102					2.00842e-17	4.41717e-17	1	0	A	56619276	C	A	56619276	3	1	222	1	0	0	0	0	1	0	0	0	1873	710	25	4	103	4	C17orf47	17	56619276	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1012202	56619276	24575934	883	40521											
CCDC47	57003	broad.mit.edu	37	chr17	61833679	61833679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggcagtccatactttgctCcagacttaggtttatcacta	9	13	7	12	1	1	1	1	0	0	1	3	1	3	1	3	2	2	3	3	2	4	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:61833679C>A	ENST00000225726.5	-	8	1251	c.869G>T	c.(868-870)gGa>gTa	p.G290V	CCDC47_ENST00000582252.1_Missense_Mutation_p.G290V|CCDC47_ENST00000403162.3_Missense_Mutation_p.G290V	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	290						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ATACTTTGCTCCAGACTTAGG	0.408													21	49					2.37509e-13	4.78695e-13	1	0	A	61833679	C	A	61833679	3	1	222	1	0	0	0	0	1	0	0	0	2845	855	30	2	606	2	CCDC47	17	61833679	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	5214403	61833679	19361531	884	40522											
CCDC47	57003	broad.mit.edu	37	chr17	61843413	61843413	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttccatgacatcctcaaaTtcagcgaagtcattatcatc	12	13	4	12	1	5	1	4	1	1	0	8	2	7	1	2	0	1	0	2	0	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:61843413T>C	ENST00000225726.5	-	2	505	c.123A>G	c.(121-123)gaA>gaG	p.E41E	CCDC47_ENST00000582252.1_Silent_p.E41E|CCDC47_ENST00000403162.3_Silent_p.E41E	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	41						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CATCCTCAAATTCAGCGAAGT	0.443													59	129					0	0	0	0	C	61843413	T	C	61843413	2	2	222	1	0	0	0	0	0	0	0	1	2845	1490	52	5		5	CCDC47	17	61843413	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	9734	61843413	19351797	885	40523											
RGS9	8787	broad.mit.edu	37	chr17	63206682	63206682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagacagctggaagaggaaGccaaggcccgagaagcagcc	14	2	15	10	1	0	3	0	1	0	3	0	7	0	5	3	3	4	2	3	3	4	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:63206682G>T	ENST00000449996.3	+	17	1429	c.1357G>T	c.(1357-1359)Gcc>Tcc	p.A453S	RGS9_ENST00000262406.9_Missense_Mutation_p.A456S|RGS9_ENST00000443584.3_Missense_Mutation_p.A453S	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	456					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GGAAGAGGAAGCCAAGGCCCG	0.567													28	69					1.5548e-18	3.47826e-18	1	0	T	63206682	G	T	63206682	3	4	222	1	0	0	0	0	1	0	0	0	13396	971	34	4	1432	4	RGS9	17	63206682	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1363269	63206682	17988528	886	40524											
HELZ	9931	broad.mit.edu	37	chr17	65119097	65119097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccacttacaggtaaaggcaCcgacataactacattccctc	13	9	5	14	1	0	0	0	0	0	0	3	1	2	0	3	2	3	2	3	2	5	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:65119097C>T	ENST00000358691.5	-	26	3785	c.3619G>A	c.(3619-3621)Gtg>Atg	p.V1207M	HELZ_ENST00000580168.1_Missense_Mutation_p.V1208M	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGTAAAGGCACCGACATAACT	0.378													11	47					0	0	0	0	T	65119097	C	T	65119097	3	4	222	1	0	0	0	0	1	0	0	0	7099	507	18	4	2241	4	HELZ	17	65119097	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1912415	65119097	16076113	887	40525											
HELZ	9931	broad.mit.edu	37	chr17	65162623	65162623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccatggtatggtgggagtCatactgatgtctggaaacaa	11	11	12	7	0	2	1	1	1	1	0	3	3	3	3	1	4	2	1	1	4	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:65162623C>T	ENST00000358691.5	-	15	2032	c.1866G>A	c.(1864-1866)atG>atA	p.M622I	HELZ_ENST00000580168.1_Missense_Mutation_p.M622I	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGGTGGGAGTCATACTGATGT	0.363													20	44					0	0	0	0	T	65162623	C	T	65162623	3	4	222	1	0	0	0	0	1	0	0	0	7099	826	29	2	4038	2	HELZ	17	65162623	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	43526	65162623	16032587	888	40526											
NOL11	25926	broad.mit.edu	37	chr17	65717512	65717512	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgtcagcagaagtatatAggatactttcagtgcaaggg	13	11	12	5	0	2	1	2	0	0	1	2	2	2	2	0	2	3	4	0	2	6	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:65717512A>G	ENST00000253247.4	+	4	446	c.331A>G	c.(331-333)Agg>Ggg	p.R111G	NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	111						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAAGTATATAGGATACTTTC	0.368													16	61					0	0	0	0	G	65717512	A	G	65717512	3	3	222	1	0	0	0	0	1	0	0	0	10591	411	15	5	345	5	NOL11	17	65717512	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	554889	65717512	15477698	889	40527											
ABCA8	10351	broad.mit.edu	37	chr17	66871844	66871844	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaggagggcacccctttcCgtgtttctaaaggtggcccg	6	11	13	11	2	1	0	0	0	1	0	2	1	2	1	4	4	0	3	4	4	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:66871844C>G	ENST00000269080.2	-	34	4418	c.4281G>C	c.(4279-4281)acG>acC	p.T1427T	ABCA8_ENST00000586539.1_Silent_p.T1467T|ABCA8_ENST00000430352.2_Silent_p.T1467T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1427	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CACCCCTTTCCGTGTTTCTAA	0.488													12	32					0	0	0	0	G	66871844	C	G	66871844	2	3	222	1	0	0	0	0	0	0	0	1	38	639	23	3		3	ABCA8	17	66871844	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1154332	66871844	14323366	890	40528											
DNAI2	64446	broad.mit.edu	37	chr17	72301505	72301505	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccccttctacccgaagAacttcctgacggttggcgac	10	8	9	14	3	1	2	0	1	1	1	2	5	2	2	4	2	3	1	4	2	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:72301505A>T	ENST00000579490.1	+	8	1441	c.1306A>T	c.(1306-1308)Aac>Tac	p.N436Y	DNAI2_ENST00000582036.1_Missense_Mutation_p.N379Y|DNAI2_ENST00000311014.6_Missense_Mutation_p.N379Y|DNAI2_ENST00000307504.5_Missense_Mutation_p.N236Y|DNAI2_ENST00000446837.2_Missense_Mutation_p.N379Y			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	379					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTACCCGAAGAACTTCCTGAC	0.577									Kartagener syndrome				34	36					0	0	0	0	T	72301505	A	T	72301505	3	4	222	1	0	0	0	0	1	0	0	0	4646	246	9	5	1165	5	DNAI2	17	72301505	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	5429661	72301505	8893705	891	40529											
LLGL2	3993	broad.mit.edu	37	chr17	73569302	73569302	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgcgctacagctgcAtccgccgggaggacgtcagt	7	6	14	14	4	1	0	1	0	0	0	2	2	2	2	3	3	4	3	3	3	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:73569302A>G	ENST00000392550.3	+	20	2785	c.2668A>G	c.(2668-2670)Atc>Gtc	p.I890V	LLGL2_ENST00000167462.5_Missense_Mutation_p.I890V|LLGL2_ENST00000577200.1_Missense_Mutation_p.I890V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	890					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTACAGCTGCATCCGCCGGGA	0.662													28	59					0	0	0	0	G	73569302	A	G	73569302	3	3	222	1	0	0	0	0	1	0	0	0	8889	217	8	5	2777	5	LLGL2	17	73569302	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1267797	73569302	7625908	892	40530											
SEC14L1	6397	broad.mit.edu	37	chr17	75212635	75212635	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctctgtgtctcagatggCgattttgctgacagctgcca	6	15	10	10	1	2	2	1	1	2	1	4	3	2	2	1	1	3	2	1	1	0	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:75212635C>T	ENST00000392476.2	+	20	2708	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*	SEC14L1_ENST00000436233.4_3'UTR|SEC14L1_ENST00000413679.2_3'UTR|SEC14L1_ENST00000443798.4_Nonsense_Mutation_p.R717*|SEC14L1_ENST00000430767.4_3'UTR	NM_001204408.1	NP_001191337.1	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	0					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCTCAGATGGCGATTTTGCTG	0.512													84	223					0	0	0	0	T	75212635	C	T	75212635	4	4	222	1	0	0	0	0	0	1	0	0	14068	760	27	1	2215	1	SEC14L1	17	75212635	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1643333	75212635	5982575	893	40531											
AFMID	125061	broad.mit.edu	37	chr17	76200969	76200969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcgtttgtccagaagcggtAtccaagcaacaagtgggtgt	10	10	13	8	2	0	1	0	0	0	1	2	1	2	1	2	2	4	3	2	2	5	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:76200969A>G	ENST00000409257.5	+	6	509	c.455A>G	c.(454-456)tAt>tGt	p.Y152C	AFMID_ENST00000327898.5_Missense_Mutation_p.Y152C|AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	152						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CAGAAGCGGTATCCAAGCAAC	0.557													11	26					0	0	0	0	G	76200969	A	G	76200969	3	3	222	1	0	0	0	0	1	0	0	0	362	449	16	5	477	5	AFMID	17	76200969	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	988334	76200969	4994241	894	40532											
AZI1	22994	broad.mit.edu	37	chr17	79176070	79176070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccgtcacctccttcCgcctgggcaagcccgtgctg	3	9	9	20	3	1	0	1	0	0	0	5	0	5	0	8	1	2	2	8	1	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:79176070C>A	ENST00000269392.4	-	7	1005	c.758G>T	c.(757-759)cGg>cTg	p.R253L	AZI1_ENST00000570482.2_5'UTR|AZI1_ENST00000450824.2_Missense_Mutation_p.R253L|AZI1_ENST00000575907.1_Missense_Mutation_p.R253L|AZI1_ENST00000374782.3_Missense_Mutation_p.R253L	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	253					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACCTCCTTCCGCCTGGGCAA	0.652													16	48					1.15088e-07	2.03777e-07	1	0	A	79176070	C	A	79176070	3	1	222	1	0	0	0	0	1	0	0	0	1244	652	23	3	2564	3	AZI1	17	79176070	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2975101	79176070	2019140	895	40533											
SLC16A3	9123	broad.mit.edu	37	chr17	80195732	80195732	+	Frame_Shift_Del	DEL	G	G	-																															attggcctggtgctgctgatGgaggcggtggccgtgctcgt																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:80195732delG	ENST00000581287.1	+	3	3408	c.1086delG	c.(1084-1086)atfs	p.M362fs	SLC16A3_ENST00000392339.1_Frame_Shift_Del_p.M362fs|SLC16A3_ENST00000392341.1_Frame_Shift_Del_p.M362fs|SLC16A3_ENST00000582743.1_Frame_Shift_Del_p.M362fs	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	362					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TGCTGCTGATGGAGGCGGTGG	0.682													10	30	---	---	---	---					-	80195732	G	-	80195732	7	5	222	1	0	1	0	1	0	0	0	0	14497	1348	47	0	1096	0	SLC16A3	17	80195732	Frame_Shift_Del	DEL	G	TCGA-CR-7402-01A-11D-2012-08	1019662	80195732	999478	896	40534											
FN3K	64122	broad.mit.edu	37	chr17	80699208	80699208	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagaggtgagggtgctgAgcctcagtatgtggacaagt	10	8	16	7	1	1	3	1	2	0	1	1	5	1	4	2	3	2	2	2	3	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:80699208A>T	ENST00000300784.7	+	4	469	c.407A>T	c.(406-408)gAg>gTg	p.E136V		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	136					fructoselysine metabolic process		fructosamine-3-kinase activity			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GAGGGTGCTGAGCCTCAGTAT	0.552													8	9					0	0	0	0	T	80699208	A	T	80699208	3	4	222	1	0	0	0	0	1	0	0	0	6008	304	11	5	421	5	FN3K	17	80699208	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	503476	80699208	496002	897	40535											
TBCD	6904	broad.mit.edu	37	chr17	80885196	80885196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagaggggacgtgggcaCctggtacgtacgtagcagtg	9	6	17	9	3	0	1	0	0	0	1	0	2	0	2	1	4	4	6	1	4	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:80885196C>T	ENST00000355528.4	+	29	2736	c.2606C>T	c.(2605-2607)aCc>aTc	p.T869I	TBCD_ENST00000539345.2_Missense_Mutation_p.T869I	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	869					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GACGTGGGCACCTGGTACGTA	0.572													6	15					0	0	0	0	T	80885196	C	T	80885196	3	4	222	1	0	0	0	0	1	0	0	0	15727	507	18	4	2720	4	TBCD	17	80885196	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	185988	80885196	310014	898	40536											
CETN1	1068	broad.mit.edu	37	chr18	580859	580859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgatcgacgaagctgatCgggatggggacggcgaagtg	11	6	18	6	5	0	3	0	2	0	1	2	8	0	5	0	4	1	1	0	4	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:580859C>T	ENST00000327228.3	+	1	493	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	151	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CGAAGCTGATCGGGATGGGGA	0.547													46	173					0	0	0	0	T	580859	C	T	580859	3	4	222	1	0	0	0	0	1	0	0	0	3303	875	31	1	453	1	CETN1	18	580859	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08		580859	77496389	899	40537											
C18orf56	494514	broad.mit.edu	37	chr18	657969	657969	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacgccgcgggcccctgcgGgacgggtggcgggaaggagg	5	3	22	11	6	0	1	0	1	0	0	0	4	0	4	3	7	1	0	3	7	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:657969G>C	ENST00000323813.3	-	1	371	c.279C>G	c.(277-279)tcC>tcG	p.S93S	TYMS_ENST00000323250.5_Intron|TYMS_ENST00000323224.7_Intron|TYMS_ENST00000323274.10_Intron|C18orf56_ENST00000585033.1_Silent_p.S93S	NM_001012716.2	NP_001012734.2	Q8TAI1	CR056_HUMAN	chromosome 18 open reading frame 56	93							protein binding										GGCCCCTGCGGGACGGGTGGC	0.716													3	14					0	0	0	0	C	657969	G	C	657969	2	2	222	1	0	0	0	0	0	0	0	1	1923	1219	43	4		4	C18orf56	18	657969	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	77110	657969	77419279	900	40538											
TMEM200C	645369	broad.mit.edu	37	chr18	5891787	5891787	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacccggtggctgctgccCgcaggcggcagctgcttacc	4	6	16	15	3	0	0	0	0	0	0	0	1	0	1	3	5	5	6	3	5	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:5891787C>T	ENST00000581347.1	-	3	921	c.276G>A	c.(274-276)gcG>gcA	p.A92A	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Silent_p.A92A			A6NKL6	T200C_HUMAN	transmembrane protein 200C	92						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGCTGCTGCCCGCAGGCGGCA	0.672													12	131					0	0	0	0	T	5891787	C	T	5891787	2	4	222	1	0	0	0	0	0	0	0	1	16219	639	23	1		1	TMEM200C	18	5891787	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	5233818	5891787	72185461	901	40539											
ARHGAP28	79822	broad.mit.edu	37	chr18	6876197	6876197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgactttcaggatgtactgCtaaagtcaaggtaccgaaca	13	10	9	9	2	2	0	2	0	0	0	3	3	2	1	1	2	4	3	1	2	6	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:6876197C>A	ENST00000419673.2	+	9	1020	c.803C>A	c.(802-804)gCt>gAt	p.A268D	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A250D|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.A427D|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A263D|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A268D|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A427D|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A375D|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A268D	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	250					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGATGTACTGCTAAAGTCAAG	0.388													65	63					5.26073e-25	1.26686e-24	1	0	A	6876197	C	A	6876197	3	1	222	1	0	0	0	0	1	0	0	0	879	797	28	4	833	4	ARHGAP28	18	6876197	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	984410	6876197	71201051	902	40540											
LAMA1	284217	broad.mit.edu	37	chr18	7024446	7024446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttcatctccatcattgaGgtggcaggtggggctgaaac	9	10	12	10	0	3	2	2	2	1	0	4	2	3	2	1	5	1	2	1	5	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:7024446G>A	ENST00000389658.3	-	18	2515	c.2422C>T	c.(2422-2424)Ctc>Ttc	p.L808F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	808	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCATCATTGAGGTGGCAGGTG	0.438													8	73					0	0	0	0	A	7024446	G	A	7024446	3	1	222	1	0	0	0	0	1	0	0	0	8658	1000	35	4	6989	4	LAMA1	18	7024446	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	148249	7024446	71052802	903	40541											
PTPRM	5797	broad.mit.edu	37	chr18	8379247	8379247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccatgagaaaaaccggtGcatggacatcctgcccccag	13	5	10	13	1	0	1	0	1	0	1	1	4	1	2	5	2	4	1	5	2	3	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:8379247G>T	ENST00000332175.8	+	26	4693	c.3656G>T	c.(3655-3657)tGc>tTc	p.C1219F	PTPRM_ENST00000400060.4_Missense_Mutation_p.C1233F|PTPRM_ENST00000580170.1_Missense_Mutation_p.C1232F|PTPRM_ENST00000400053.4_Missense_Mutation_p.C1157F|PTPRM_ENST00000444013.1_Missense_Mutation_p.C1006F	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1219	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AAAAACCGGTGCATGGACATC	0.567													35	153					1.07637e-12	2.14068e-12	1	0	T	8379247	G	T	8379247	3	4	222	1	0	0	0	0	1	0	0	0	12888	1319	46	4	3805	4	PTPRM	18	8379247	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1354801	8379247	69698001	904	40542											
TXNDC2	84203	broad.mit.edu	37	chr18	9887082	9887082	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagtcctcagaagaagccatCcagcccaaagagggtgacat	15	5	10	11	0	1	4	1	1	0	3	3	4	3	4	4	1	2	0	4	1	4	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:9887082C>G	ENST00000306084.6	+	2	805	c.606C>G	c.(604-606)atC>atG	p.I202M	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.I135M	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	202	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAGAAGCCATCCAGCCCAAAG	0.577													55	534					0	0	0	0	G	9887082	C	G	9887082	3	3	222	1	0	0	0	0	1	0	0	0	16893	845	30	2	612	2	TXNDC2	18	9887082	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1507835	9887082	68190166	905	40543											
MC5R	4161	broad.mit.edu	37	chr18	13826509	13826509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgggcgtgtttaccGtgtgctgggccccgttcttc	1	14	14	12	3	1	0	0	0	1	0	2	0	1	0	3	2	4	5	3	2	1	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:13826509G>A	ENST00000324750.3	+	1	967	c.745G>A	c.(745-747)Gtg>Atg	p.V249M		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	249					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CGTGTTTACCGTGTGCTGGGC	0.587													50	417					0	0	0	0	A	13826509	G	A	13826509	3	1	222	1	0	0	0	0	1	0	0	0	9436	1145	40	1	747	1	MC5R	18	13826509	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3939427	13826509	64250739	906	40544											
ZNF519	162655	broad.mit.edu	37	chr18	14105881	14105881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgagtaagctttgagaatgGgtcagaagtttcaccacatt	12	13	10	6	0	2	3	2	2	0	2	2	4	2	3	1	1	1	3	1	1	3	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:14105881G>A	ENST00000590202.1	-	3	810	c.658C>T	c.(658-660)Cca>Tca	p.P220S	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TTTGAGAATGGGTCAGAAGTT	0.299													15	167					0	0	0	0	A	14105881	G	A	14105881	3	1	222	1	0	0	0	0	1	0	0	0	18059	1232	43	4	968	4	ZNF519	18	14105881	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	279372	14105881	63971367	907	40545											
ROCK1	6093	broad.mit.edu	37	chr18	18572799	18572799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaatcatttaccttttctGagtgattaagcatgtcttga	11	18	6	6	0	3	3	1	3	2	0	3	3	3	3	1	0	2	1	1	0	4	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:18572799G>A	ENST00000399799.1	-	17	2925	c.1985C>T	c.(1984-1986)tCa>tTa	p.S662L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	662	Glu-rich.|Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TACCTTTTCTGAGTGATTAAG	0.303													20	20					0	0	0	0	A	18572799	G	A	18572799	3	1	222	1	0	0	0	0	1	0	0	0	13602	1294	45	2	2147	2	ROCK1	18	18572799	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	4466918	18572799	59504449	908	40546											
ASXL3	80816	broad.mit.edu	37	chr18	31319219	31319219	+	Frame_Shift_Del	DEL	C	C	-																															acgtccttttcttctgagagCccagagggagcctgtaccag																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:31319219delC	ENST00000269197.5	+	11	1851	c.1851delC	c.(1849-1851)agfs	p.S617fs		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	617	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTTCTGAGAGCCCAGAGGGAG	0.473													15	13	---	---	---	---					-	31319219	C	-	31319219	7	5	222	1	0	1	0	1	0	0	0	0	1072	738	26	0	1893	0	ASXL3	18	31319219	Frame_Shift_Del	DEL	C	TCGA-CR-7402-01A-11D-2012-08	12746420	31319219	46758029	909	40547											
ASXL3	80816	broad.mit.edu	37	chr18	31323688	31323688	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggaactgacactccatgCatagccattataccaaaatg	15	8	7	11	0	0	1	0	1	0	0	1	2	1	2	3	1	4	1	3	1	6	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:31323688C>A	ENST00000269197.5	+	12	3876	c.3876C>A	c.(3874-3876)tgC>tgA	p.C1292*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1292	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACACTCCATGCATAGCCATTA	0.393													68	53					1.72039e-30	4.21043e-30	1	0	A	31323688	C	A	31323688	4	1	222	1	0	0	0	0	0	1	0	0	1072	718	25	4	3922	4	ASXL3	18	31323688	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4469	31323688	46753560	910	40548											
SLC14A2	8170	broad.mit.edu	37	chr18	43253684	43253684	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctttgactccatctactTcggcctgtgtggcttcaaca	6	13	8	14	1	2	1	1	1	1	0	4	1	3	1	3	2	2	1	3	2	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:43253684T>A	ENST00000255226.6	+	18	3230	c.2414T>A	c.(2413-2415)tTc>tAc	p.F805Y	SLC14A2_ENST00000586448.1_Missense_Mutation_p.F805Y|SLC14A2_ENST00000589658.1_Missense_Mutation_p.F282Y|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	805						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCATCTACTTCGGCCTGTGT	0.587													41	32					0	0	0	0	A	43253684	T	A	43253684	3	1	222	1	0	0	0	0	1	0	0	0	14485	1783	62	5	2480	5	SLC14A2	18	43253684	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	11929996	43253684	34823564	911	40549											
TCEB3B	51224	broad.mit.edu	37	chr18	44560992	44560992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcacaacggctttcccctggGgttggccctggcagcctgga	5	9	13	14	1	1	0	1	0	0	0	2	1	2	1	4	6	2	3	4	6	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:44560992G>T	ENST00000332567.4	-	1	996	c.644C>A	c.(643-645)cCc>cAc	p.P215H	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	215					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTCCCCTGGGGTTGGCCCTG	0.662													22	9					2.00529e-23	4.78769e-23	1	0	T	44560992	G	T	44560992	3	4	222	1	0	0	0	0	1	0	0	0	15776	1232	43	4	1621	4	TCEB3B	18	44560992	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1307308	44560992	33516256	912	40550											
ME2	4200	broad.mit.edu	37	chr18	48439273	48439273	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaattgtatatacaccgacGgttggtcttgcctgctccca	8	12	8	13	2	1	0	0	0	1	0	2	1	2	0	4	2	3	3	4	2	4	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:48439273G>T	ENST00000321341.5	+	4	617	c.345G>T	c.(343-345)acG>acT	p.T115T	ME2_ENST00000382927.3_Silent_p.T115T	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	115					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	ATACACCGACGGTTGGTCTTG	0.323													66	54					1.1794e-34	2.92307e-34	1	0	T	48439273	G	T	48439273	2	4	222	1	0	0	0	0	0	0	0	1	9487	1103	39	3		3	ME2	18	48439273	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3878281	48439273	29637975	913	40551											
DCC	1630	broad.mit.edu	37	chr18	51013297	51013297	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattcccaacactctcagtGgaccgaggtttcggagcagg	9	8	11	13	2	1	0	1	0	1	0	4	3	2	2	3	4	2	2	3	4	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:51013297G>T	ENST00000442544.2	+	26	4483	c.3867G>T	c.(3865-3867)gtG>gtT	p.V1289V	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Silent_p.V924V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1289					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACTCTCAGTGGACCGAGGTT	0.473													42	35					2.26627e-22	5.34545e-22	1	0	T	51013297	G	T	51013297	2	4	222	1	0	0	0	0	0	0	0	1	4314	1335	47	4		4	DCC	18	51013297	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2574024	51013297	27063951	914	40552											
CDH20	28316	broad.mit.edu	37	chr18	59203814	59203814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagcaagacccctagacCgggaagaattttcttggcat	12	9	10	10	1	1	4	0	1	1	3	1	5	1	5	3	2	1	2	3	2	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:59203814C>T	ENST00000262717.4	+	8	1758	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	CDH20_ENST00000538374.1_Missense_Mutation_p.R454W|CDH20_ENST00000536675.2_Missense_Mutation_p.R454W			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	454	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACCCCTAGACCGGGAAGAATT	0.408													52	55					0	0	0	0	T	59203814	C	T	59203814	3	4	222	1	0	0	0	0	1	0	0	0	3135	643	23	1	1386	1	CDH20	18	59203814	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	8190517	59203814	18873434	915	40553											
CD226	10666	broad.mit.edu	37	chr18	67562961	67562961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctacagtcaatctcatcaCgaaggtttcgttttctcctg	8	14	8	11	2	4	0	3	0	2	0	7	1	4	0	1	2	1	3	1	2	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:67562961C>A	ENST00000280200.4	-	4	971	c.703G>T	c.(703-705)Gtg>Ttg	p.V235L	CD226_ENST00000577287.1_Missense_Mutation_p.V80L|CD226_ENST00000581982.1_Missense_Mutation_p.V80L|CD226_ENST00000582621.1_Missense_Mutation_p.V235L	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	235	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AATCTCATCACGAAGGTTTCG	0.532													84	72					1.29045e-55	3.24356e-55	1	0	A	67562961	C	A	67562961	3	1	222	1	0	0	0	0	1	0	0	0	3015	536	19	3	323	3	CD226	18	67562961	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	8359147	67562961	10514287	916	40554											
NETO1	81832	broad.mit.edu	37	chr18	70417315	70417315	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctggacggctttatcgTgtctggacagcctgtgactg	6	11	13	11	3	1	1	0	1	1	0	2	3	1	3	2	3	1	2	2	3	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:70417315T>A	ENST00000327305.6	-	9	2180	c.1523A>T	c.(1522-1524)cAc>cTc	p.H508L	NETO1_ENST00000583169.1_Missense_Mutation_p.H508L|NETO1_ENST00000299430.2_Missense_Mutation_p.H507L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	508					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GGCTTTATCGTGTCTGGACAG	0.438													26	25					0	0	0	0	A	70417315	T	A	70417315	3	1	222	1	0	0	0	0	1	0	0	0	10409	1696	59	5	86	5	NETO1	18	70417315	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2854354	70417315	7659933	917	40555											
CDC34	997	broad.mit.edu	37	chr19	541375	541375	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaggtggacgcggagcgTgacggcgtgaaggtgcccac	9	4	17	11	5	0	2	0	2	0	0	0	4	0	4	2	5	2	0	2	5	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:541375T>C	ENST00000215574.4	+	5	752	c.534T>C	c.(532-534)cgT>cgC	p.R178R		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	178					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ACGCGGAGCGTGACGGCGTGA	0.706													6	11					0	0	0	0	C	541375	T	C	541375	2	2	222	1	0	0	0	0	0	0	0	1	3096	1683	59	5		5	CDC34	19	541375	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08		541375	58587608	918	40556											
PALM	5064	broad.mit.edu	37	chr19	746513	746513	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggccacgtccggcccgcCggggatccagcccggccagg	5	2	16	18	6	0	0	0	0	0	0	2	2	2	1	7	6	1	0	7	6	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:746513C>A	ENST00000264560.7	+	8	925	c.731C>A	c.(730-732)cCg>cAg	p.P244Q	PALM_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.P288Q	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	288					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		TCCGGCCCGCCGGGGATCCAG	0.697													10	40					3.86212e-05	6.34909e-05	1	0	A	746513	C	A	746513	3	1	222	1	0	0	0	0	1	0	0	0	11479	652	23	3	897	3	PALM	19	746513	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	205138	746513	58382470	919	40557											
LPPR3	79948	broad.mit.edu	37	chr19	814685	814685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagggcagtgaggggccgGactcaccgacacatagaccg	11	3	16	11	3	1	2	1	1	0	1	1	5	1	4	3	5	0	1	3	5	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:814685G>T	ENST00000359894.2	-	6	727	c.664C>A	c.(664-666)Ccg>Acg	p.P222T	LPPR3_ENST00000520876.3_Intron	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		219						integral to membrane	phosphatidate phosphatase activity										TGAGGGGCCGGACTCACCGAC	0.662													23	24					2.52088e-20	5.80575e-20	1	0	T	814685	G	T	814685	3	4	222	1	0	0	0	0	1	0	0	0	8990	1174	41	2	1584	2	LPPR3	19	814685	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	68172	814685	58314298	920	40558											
DIRAS1	148252	broad.mit.edu	37	chr19	2717513	2717513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgagcttgtagatgggccCcagctcctccagcgactgct	7	9	12	13	1	0	2	0	1	0	1	2	4	2	2	4	1	4	4	4	1	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:2717513C>T	ENST00000323469.4	-	2	475	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	DIRAS1_ENST00000585334.1_Missense_Mutation_p.G98R	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	98					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		TAGATGGGCCCCAGCTCCTCC	0.627													17	26					0	0	0	0	T	2717513	C	T	2717513	3	4	222	1	0	0	0	0	1	0	0	0	4567	623	22	4	308	4	DIRAS1	19	2717513	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1902828	2717513	56411470	921	40559											
TLE2	7089	broad.mit.edu	37	chr19	3015720	3015720	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggccactcggtcgctcCtcctccacgagactctcagg	6	7	10	18	3	1	1	1	0	1	1	7	2	4	1	5	3	0	1	5	3	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:3015720C>G	ENST00000262953.6	-	9	871	c.609G>C	c.(607-609)gaG>gaC	p.E203D	TLE2_ENST00000426948.2_Missense_Mutation_p.E217D|TLE2_ENST00000455444.2_Missense_Mutation_p.E81D|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000443826.3_Missense_Mutation_p.E81D|TLE2_ENST00000590536.1_Missense_Mutation_p.E204D|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000591529.1_Missense_Mutation_p.E217D	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	203	CCN domain.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		TCGGTCGCTCCTCCTCCACGA	0.632													8	12					0	0	0	0	G	3015720	C	G	3015720	3	3	222	1	0	0	0	0	1	0	0	0	16033	680	24	4	1670	4	TLE2	19	3015720	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	298207	3015720	56113263	922	40560											
PIP5K1C	23396	broad.mit.edu	37	chr19	3653452	3653452	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtaggtggagcccttgaggtCgaacttgaggtgcatcttga	8	11	15	7	1	1	3	0	3	1	0	2	5	1	4	1	4	3	2	1	4	2	4	rs121908315		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:3653452C>G	ENST00000335312.3	-	7	845	c.757G>C	c.(757-759)Gac>Cac	p.D253H	PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.D253H|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.D253H|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.D253H	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	253	PIPK.		D -> N (in LCCS3; loss of activity).		axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCTTGAGGTCGAACTTGAGG	0.587													21	61					0	0	0	0	G	3653452	C	G	3653452	3	3	222	1	0	0	0	0	1	0	0	0	12013	884	31	3	1297	3	PIP5K1C	19	3653452	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	637732	3653452	55475531	923	40561											
ZBTB7A	51341	broad.mit.edu	37	chr19	4054160	4054160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtcgccgtcgtgggcgccGctgaagtacttcaggtagta	7	9	14	11	6	1	1	1	1	0	0	3	1	1	1	2	2	1	4	2	2	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:4054160G>T	ENST00000322357.4	-	2	1349	c.1071C>A	c.(1069-1071)agC>agA	p.S357R	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.S357R	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	357					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGGCGCCGCTGAAGTACT	0.667													20	44					7.41877e-09	1.35664e-08	1	0	T	4054160	G	T	4054160	3	4	222	1	0	0	0	0	1	0	0	0	17648	1078	38	3	691	3	ZBTB7A	19	4054160	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	400708	4054160	55074823	924	40562											
ZBTB7A	51341	broad.mit.edu	37	chr19	4054266	4054266	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaccgatgacatcatcTgctgcagcagcgtgctggcc	7	7	12	15	2	2	1	1	1	1	0	2	2	2	1	3	2	5	4	3	2	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:4054266T>A	ENST00000322357.4	-	2	1243	c.965A>T	c.(964-966)cAg>cTg	p.Q322L	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.Q322L	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	322					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACATCATCTGCTGCAGCAG	0.731													4	15					0	0	0	0	A	4054266	T	A	4054266	3	1	222	1	0	0	0	0	1	0	0	0	17648	1580	55	5	797	5	ZBTB7A	19	4054266	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	106	4054266	55074717	925	40563											
ARRDC5	645432	broad.mit.edu	37	chr19	4891178	4891178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccttgaggctggtcagggaCcagggcaggtgcacggtggt	6	7	19	9	1	1	1	1	1	0	0	1	2	1	2	2	7	1	3	2	7	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:4891178C>A	ENST00000381781.2	-	3	908	c.909G>T	c.(907-909)tgG>tgT	p.W303C		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	303					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGGTCAGGGACCAGGGCAGGT	0.607													52	132					2.30037e-20	5.30415e-20	1	0	A	4891178	C	A	4891178	3	1	222	1	0	0	0	0	1	0	0	0	990	508	18	4	123	4	ARRDC5	19	4891178	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	836912	4891178	54237805	926	40564											
KDM4B	23030	broad.mit.edu	37	chr19	5082396	5082396	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatcacgcaggaggccgggGaattcatgatcacatttccc	11	8	11	11	2	3	2	3	1	0	1	4	4	4	4	2	4	0	1	2	4	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:5082396G>T	ENST00000159111.4	+	9	1017	c.799G>T	c.(799-801)Gaa>Taa	p.E267*	KDM4B_ENST00000536461.1_Nonsense_Mutation_p.E267*|KDM4B_ENST00000381759.4_Nonsense_Mutation_p.E267*|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	267	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGAGGCCGGGGAATTCATGAT	0.597													11	23					9.70103e-10	1.82525e-09	1	0	T	5082396	G	T	5082396	4	4	222	1	0	0	0	0	0	1	0	0	8182	1175	41	2	825	2	KDM4B	19	5082396	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	191218	5082396	54046587	927	40565											
C3	718	broad.mit.edu	37	chr19	6686804	6686804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagaggccccttcagcctgCccatctgggccagagcatag	9	6	12	14	0	2	2	1	0	1	2	2	3	2	2	5	2	3	1	5	2	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:6686804C>G	ENST00000245907.6	-	28	3691	c.3599G>C	c.(3598-3600)gGc>gCc	p.G1200A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1200					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTTCAGCCTGCCCATCTGGGC	0.542													71	163					0	0	0	0	G	6686804	C	G	6686804	3	3	222	1	0	0	0	0	1	0	0	0	2224	739	26	4	1448	4	C3	19	6686804	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1604408	6686804	52442179	928	40566											
TIMM44	10469	broad.mit.edu	37	chr19	7999066	7999066	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggccgtcttggctgcttCctccacgccctccttgattt	2	15	8	16	2	1	1	0	1	1	0	4	1	4	1	5	2	1	2	5	2	0	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:7999066C>A	ENST00000270538.3	-	5	719	c.451G>T	c.(451-453)Gaa>Taa	p.E151*		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	151					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TTGGCTGCTTCCTCCACGCCC	0.622													32	103					9.93527e-08	1.77688e-07	1	0	A	7999066	C	A	7999066	4	1	222	1	0	0	0	0	0	1	0	0	16006	864	30	2	943	2	TIMM44	19	7999066	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1312262	7999066	51129917	929	40567											
FBN3	84467	broad.mit.edu	37	chr19	8206823	8206823	+	Splice_Site	SNP	C	C	A																															agccctgaccccactattcaCcttggcaggcccccgtgtgg																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:8206823C>A	ENST00000600128.1	-	7	1154		c.e7+1		FBN3_ENST00000601739.1_Splice_Site|FBN3_ENST00000270509.2_Splice_Site			Q75N90	FBN3_HUMAN	fibrillin 3							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCACTATTCACCTTGGCAGGC	0.637													12	48					1.08611e-07	1.93009e-07	1	0	A	8206823	C	A	8206823	5	1	222	1	0	0	0	0	0	0	1	0	5749	521	18	4	7921	4	FBN3	19	8206823	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	207757	8206823	50922160	930	40568	308	2									
FBN3	84467	broad.mit.edu	37	chr19	8206824	8206824	+	Splice_Site	SNP	C	C	A																															gccctgaccccactattcacCttggcaggcccccgtgtgga																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:8206824C>A	ENST00000600128.1	-	7	1153	c.739_splice	c.e7+1	p.D247_splice	FBN3_ENST00000601739.1_Splice_Site_p.D247_splice|FBN3_ENST00000270509.2_Splice_Site_p.D247_splice			Q75N90	FBN3_HUMAN	fibrillin 3	247	EGF-like 2; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACTATTCACCTTGGCAGGCC	0.637													14	47					1.5842e-08	2.88077e-08	1	0	A	8206824	C	A	8206824	5	1	222	1	0	0	0	0	0	0	1	0	5749	695	24	4	7922	4	FBN3	19	8206824	Splice_Site	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1	8206824	50922159	931	40569	308	2									
MYO1F	4542	broad.mit.edu	37	chr19	8587264	8587264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgccctggtacacacaccttCcatgaggatctcaatgacct	10	10	7	14	0	1	2	1	2	1	0	3	3	2	3	4	2	2	1	4	2	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:8587264C>T	ENST00000338257.8	-	27	3484	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1073	SH3.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CACACACCTTCCATGAGGATC	0.592													12	27					0	0	0	0	T	8587264	C	T	8587264	3	4	222	1	0	0	0	0	1	0	0	0	10143	864	30	2	87	2	MYO1F	19	8587264	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	380440	8587264	50541719	932	40570											
MUC16	94025	broad.mit.edu	37	chr19	9015728	9015728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagttgagggtgaacggcaCcaggagagggccagcagctg	11	4	18	8	1	0	3	0	2	0	1	0	5	0	3	2	4	3	4	2	4	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:9015728C>A	ENST00000397910.4	-	29	38298	c.38095G>T	c.(38095-38097)Gtg>Ttg	p.V12699L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12701	SEA 5.				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						GTGAACGGCACCAGGAGAGGG	0.458													35	113					0.000109025	0.000177291	1	0	A	9015728	C	A	9015728	3	1	222	1	0	0	0	0	1	0	0	0	10043	507	18	4	5652	4	MUC16	19	9015728	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	428464	9015728	50113255	933	40571											
MUC16	94025	broad.mit.edu	37	chr19	9059286	9059286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggccaggaggctgtgcttGatgagtccaaggtaaaggta	10	9	15	7	0	0	2	0	2	0	0	1	3	1	3	2	5	1	4	2	5	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:9059286G>A	ENST00000397910.4	-	3	28363	c.28160C>T	c.(28159-28161)tCa>tTa	p.S9387L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9389	Ser-rich.|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						GGCTGTGCTTGATGAGTCCAA	0.527													35	103					0	0	0	0	A	9059286	G	A	9059286	3	1	222	1	0	0	0	0	1	0	0	0	10043	1294	45	2	15691	2	MUC16	19	9059286	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	43558	9059286	50069697	934	40572											
MUC16	94025	broad.mit.edu	37	chr19	9059658	9059658	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggttgatgtgagaacatttGtatctcctgtggggtaggtg	7	14	16	4	0	1	2	0	2	1	1	2	3	1	2	1	4	1	3	1	4	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:9059658G>C	ENST00000397910.4	-	3	27991	c.27788C>G	c.(27787-27789)aCa>aGa	p.T9263R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9265	Ser-rich.|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						GAGAACATTTGTATCTCCTGT	0.473													29	90					0	0	0	0	C	9059658	G	C	9059658	3	2	222	1	0	0	0	0	1	0	0	0	10043	1377	48	4	16063	4	MUC16	19	9059658	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	372	9059658	50069325	935	40573											
MUC16	94025	broad.mit.edu	37	chr19	9071927	9071927	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtttgtagtctcagaggaAccatgcactggcattgatgt	10	13	11	7	0	1	2	1	1	1	1	2	3	1	3	1	2	2	4	1	2	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:9071927A>G	ENST00000397910.4	-	3	15722	c.15519T>C	c.(15517-15519)ggT>ggC	p.G5173G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5175	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						TCTCAGAGGAACCATGCACTG	0.498													70	242					0	0	0	0	G	9071927	A	G	9071927	2	3	222	1	0	0	0	0	0	0	0	1	10043	30	2	5		5	MUC16	19	9071927	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	12269	9071927	50057056	936	40574											
MUC16	94025	broad.mit.edu	37	chr19	9075894	9075894	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtctgcccttgtctcTgaaaagttgcatctggagtt	7	14	11	9	0	3	1	0	1	3	0	4	3	3	2	1	1	3	4	1	1	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:9075894T>A	ENST00000397910.4	-	3	11755	c.11552A>T	c.(11551-11553)cAg>cTg	p.Q3851L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3852	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						CCCTTGTCTCTGAAAAGTTGC	0.502													34	67					0	0	0	0	A	9075894	T	A	9075894	3	1	222	1	0	0	0	0	1	0	0	0	10043	1580	55	5	32299	5	MUC16	19	9075894	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	3967	9075894	50053089	937	40575											
TYK2	7297	broad.mit.edu	37	chr19	10475629	10475629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcccacagtggctcccgCggcctgtctgccggctggcc	3	7	14	17	3	1	0	0	0	1	0	2	0	2	0	5	5	1	2	5	5	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:10475629C>T	ENST00000525621.1	-	8	1588	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	TYK2_ENST00000524462.1_Silent_p.P184P|TYK2_ENST00000529370.1_Silent_p.P369P|TYK2_ENST00000264818.6_Silent_p.P369P	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	369	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GTGGCTCCCGCGGCCTGTCTG	0.617													20	43					0	0	0	0	T	10475629	C	T	10475629	2	4	222	1	0	0	0	0	0	0	0	1	16906	755	27	1		1	TYK2	19	10475629	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1399735	10475629	48653354	938	40576											
SMARCA4	6597	broad.mit.edu	37	chr19	11144853	11144853	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagatgatcgcccggcacGaggaggagtttgatctgttc	9	9	13	10	3	1	3	0	2	1	1	3	6	1	5	2	3	0	3	2	3	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:11144853G>T	ENST00000358026.2	+	28	4212	c.3928G>T	c.(3928-3930)Gag>Tag	p.E1310*	SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.E1310*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E1277*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E1277*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E1277*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E1277*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E1277*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E1310*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E1277*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1310					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.E1310*(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGCCCGGCACGAGGAGGAGTT	0.597			"F, N, Mis"		NSCLC								24	44					2.21704e-12	4.36039e-12	1	0	T	11144853	G	T	11144853	4	4	222	1	0	0	0	0	0	1	0	0	14858	1059	37	3	4034	3	SMARCA4	19	11144853	Nonsense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	669224	11144853	47984130	939	40577											
ZNF625	90589	broad.mit.edu	37	chr19	12256682	12256682	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtccatctccactgtgcatTatcctgtgtcttcgaatgct	6	15	8	12	1	2	0	0	0	2	0	6	1	4	0	3	1	2	2	3	1	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:12256682T>A	ENST00000355738.1	-	4	700	c.351A>T	c.(349-351)atA>atT	p.I117I	ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000439556.2_Silent_p.I183I|ZNF625_ENST00000542938.1_Silent_p.I117I|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						CACTGTGCATTATCCTGTGTC	0.433													32	89					0	0	0	0	A	12256682	T	A	12256682	2	1	222	1	0	0	0	0	0	0	0	1	18144	1744	61	5		5	ZNF625	19	12256682	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1111829	12256682	46872301	940	40578											
MAST1	22983	broad.mit.edu	37	chr19	12951880	12951880	+	Splice_Site	DEL	G	G	-																															ctcgtttgcctcctcccgaaGgtgagtccctcccctccagg																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:12951880delG	ENST00000251472.4	+	3	287	c.248_splice	c.e3+1	p.R83_splice	MAST1_ENST00000591495.1_Splice_Site_p.R79_splice	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	83					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCTCCCGAAGGTGAGTCCCT	0.637													25	67	---	---	---	---					-	12951880	G	-	12951880	8	5	222	1	0	1	0	1	0	0	1	0	9393	1014	35	0	258	0	MAST1	19	12951880	Splice_Site	DEL	G	TCGA-CR-7402-01A-11D-2012-08	695198	12951880	46177103	941	40579											
CACNA1A	773	broad.mit.edu	37	chr19	13340911	13340911	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttaccaagctgcggggtcaTactcggcccagacacgcacg	9	6	11	15	4	1	1	1	0	0	1	2	1	1	1	2	3	4	2	2	3	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:13340911T>C	ENST00000360228.5	-	36	5512	c.5513A>G	c.(5512-5514)tAt>tGt	p.Y1838C	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.Y1839C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1839					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGCGGGGTCATACTCGGCCCA	0.587													9	13					0	0	0	0	C	13340911	T	C	13340911	3	2	222	1	0	0	0	0	1	0	0	0	2563	1406	49	5	2156	5	CACNA1A	19	13340911	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	389031	13340911	45788072	942	40580											
RFX1	5989	broad.mit.edu	37	chr19	14094399	14094399	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtctcgctggcccgcaTggcaccttctgtggggaggg	4	9	15	13	2	2	0	0	0	2	0	3	1	2	1	2	5	0	3	2	5	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:14094399T>G	ENST00000254325.4	-	3	562	c.328A>C	c.(328-330)Atg>Ctg	p.M110L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	110					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CTGGCCCGCATGGCACCTTCT	0.672													3	10					0	0	0	0	G	14094399	T	G	14094399	3	3	222	1	0	0	0	0	1	0	0	0	13344	1464	51	5	2687	5	RFX1	19	14094399	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	753488	14094399	45034584	943	40581											
CYP4F22	126410	broad.mit.edu	37	chr19	15651434	15651434	+	Frame_Shift_Del	DEL	G	G	-																															cactgaagtcatccaggaacGgcggcgggcactgcgtcagc																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:15651434delG	ENST00000269703.2	+	8	1044	c.845delG	c.(844-846)cgfs	p.R284fs	CYP4F22_ENST00000601005.2_Frame_Shift_Del_p.R284fs	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	284						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ATCCAGGAACGGCGGCGGGCA	0.617													33	70	---	---	---	---					-	15651434	G	-	15651434	7	5	222	1	0	1	0	1	0	0	0	0	4221	1116	39	0	867	0	CYP4F22	19	15651434	Frame_Shift_Del	DEL	G	TCGA-CR-7402-01A-11D-2012-08	1557035	15651434	43477549	944	40582											
ZNF99	7652	broad.mit.edu	37	chr19	22940748	22940748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccacttaaaagctttacCacattcttcacatttgtagg	12	13	6	10	0	2	0	1	0	1	0	2	1	2	1	2	2	2	2	2	2	4	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:22940748C>T	ENST00000397104.3	-	5	1689	c.1690G>A	c.(1690-1692)Ggt>Agt	p.G564S	ZNF99_ENST00000596209.1_Missense_Mutation_p.G655S					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTACCACATTCTTCA	0.378													11	49					0	0	0	0	T	22940748	C	T	22940748	3	4	222	1	0	0	0	0	1	0	0	0	18297	594	21	4	1434	4	ZNF99	19	22940748	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	7289314	22940748	36188235	945	40583											
ZNF99	7652	broad.mit.edu	37	chr19	22941185	22941186	+	Frame_Shift_Ins	INS	-	-	A																															gccacattcttcacatttgcINSaaggtttctcttccatatga																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:22941185_22941186insA	ENST00000397104.3	-	5	1251_1252	c.1252_1253insT	c.(1252-1254)caafs	p.Q418fs	ZNF99_ENST00000596209.1_Frame_Shift_Ins_p.Q509fs					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTGCAAGGTTTCTCT	0.351													19	67	---	---	---	---					A	22941186	-	A	22941185	7	5	222	1	0	1	1	0	0	0	0	0	18297	710	25	0	1871	0	ZNF99	19	22941185	Frame_Shift_Ins	INS	-	TCGA-CR-7402-01A-11D-2012-08	437	22941185	36187798	946	40584											
ZNF254	9534	broad.mit.edu	37	chr19	24309076	24309076	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatgtgtcctcattttgctCaagacctttggccagagcag	8	13	10	10	0	2	2	2	0	0	2	3	2	3	2	3	1	2	3	3	1	2	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:24309076C>T	ENST00000357002.4	+	4	389	c.274C>T	c.(274-276)Caa>Taa	p.Q92*	ZNF254_ENST00000342944.6_Nonsense_Mutation_p.Q7*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	92					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TCATTTTGCTCAAGACCTTTG	0.308													7	30					0	0	0	0	T	24309076	C	T	24309076	4	4	222	1	0	0	0	0	0	1	0	0	17893	827	29	2	288	2	ZNF254	19	24309076	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1367891	24309076	34819907	947	40585											
TSHZ3	57616	broad.mit.edu	37	chr19	31769884	31769884	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgcacttcagcaccttcTgggcgtcttccttcccttcc	5	13	6	17	1	3	0	1	0	2	0	6	0	6	0	4	1	2	2	4	1	0	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:31769884T>A	ENST00000240587.4	-	2	1142	c.815A>T	c.(814-816)cAg>cTg	p.Q272L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	272					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CAGCACCTTCTGGGCGTCTTC	0.512													44	148					0	0	0	0	A	31769884	T	A	31769884	3	1	222	1	0	0	0	0	1	0	0	0	16720	1580	55	5	2434	5	TSHZ3	19	31769884	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	7460808	31769884	27359099	948	40586											
ZNF507	22847	broad.mit.edu	37	chr19	32844667	32844667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtcgtcattgctattggaGagagtgaactgagtatccac	11	11	11	8	1	1	3	1	2	0	1	3	5	2	4	1	1	2	2	1	1	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:32844667G>A	ENST00000311921.3	+	2	1123	c.931G>A	c.(931-933)Gag>Aag	p.E311K	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000544431.1_Missense_Mutation_p.E311K|ZNF507_ENST00000355898.5_Missense_Mutation_p.E311K	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGCTATTGGAGAGAGTGAACT	0.473													47	159					0	0	0	0	A	32844667	G	A	32844667	3	1	222	1	0	0	0	0	1	0	0	0	18048	943	33	2	933	2	ZNF507	19	32844667	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1074783	32844667	26284316	949	40587											
FXYD3	5349	broad.mit.edu	37	chr19	35613703	35613703	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggttggcgggctcatctgCgctggggttctgtgcgccat	3	11	16	11	3	3	0	1	0	2	0	3	0	3	0	1	5	2	4	1	5	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:35613703C>G	ENST00000435734.2	+	7	391	c.132C>G	c.(130-132)tgC>tgG	p.C44W	FXYD3_ENST00000604621.1_Missense_Mutation_p.C44W|FXYD3_ENST00000604804.1_Missense_Mutation_p.C73W|FXYD3_ENST00000535103.1_Missense_Mutation_p.C101W|FXYD3_ENST00000603524.1_Missense_Mutation_p.C73W|FXYD3_ENST00000344013.6_Missense_Mutation_p.C44W|FXYD3_ENST00000604255.1_Missense_Mutation_p.C101W|FXYD3_ENST00000406988.1_Missense_Mutation_p.C44W|FXYD3_ENST00000406242.3_Missense_Mutation_p.C44W|FXYD3_ENST00000603181.1_Missense_Mutation_p.C44W|FXYD3_ENST00000604404.1_Missense_Mutation_p.C44W|FXYD3_ENST00000346446.5_Missense_Mutation_p.C44W|FXYD3_ENST00000605677.1_Missense_Mutation_p.C44W|FXYD3_ENST00000605550.1_Missense_Mutation_p.C44W	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	44						chloride channel complex|integral to plasma membrane	chloride channel activity			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCTCATCTGCGCTGGGGTTC	0.652													32	75					0	0	0	0	G	35613703	C	G	35613703	3	3	222	1	0	0	0	0	1	0	0	0	6167	776	27	3	414	3	FXYD3	19	35613703	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2769036	35613703	23515280	950	40588											
SBSN	374897	broad.mit.edu	37	chr19	36018649	36018649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcatttccggcctgccCtgcagcatggtggactccct	5	10	10	16	1	1	0	1	0	0	0	3	1	3	1	5	3	4	2	5	3	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:36018649C>T	ENST00000452271.2	-	1	563	c.535G>A	c.(535-537)Ggg>Agg	p.G179R	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	178	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCGGCCTGCCCTGCAGCATGG	0.637													8	23					0	0	0	0	T	36018649	C	T	36018649	3	4	222	1	0	0	0	0	1	0	0	0	13950	681	24	4	1253	4	SBSN	19	36018649	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	404946	36018649	23110334	951	40589											
KIRREL2	84063	broad.mit.edu	37	chr19	36357124	36357124	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagccttggcgaagccccTggaggaggtctcttcctgcc	5	9	13	14	1	1	1	0	1	1	0	3	4	2	3	5	4	3	0	5	4	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:36357124T>C	ENST00000360202.5	+	15	2055	c.1857T>C	c.(1855-1857)ccT>ccC	p.P619P	KIRREL2_ENST00000592409.1_Silent_p.P584P|KIRREL2_ENST00000586102.2_Silent_p.P599P|KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	619					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCGAAGCCCCTGGAGGAGGTC	0.607													20	88					0	0	0	0	C	36357124	T	C	36357124	2	2	222	1	0	0	0	0	0	0	0	1	8377	1567	55	5		5	KIRREL2	19	36357124	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	338475	36357124	22771859	952	40590											
ZNF540	163255	broad.mit.edu	37	chr19	38103945	38103945	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagaatgtgggaaggccttTagtcgtagtgtagaccttag	12	11	13	5	1	0	2	0	0	0	2	1	3	0	3	2	2	0	2	2	2	7	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:38103945T>A	ENST00000592533.1	+	5	2096	c.1764T>A	c.(1762-1764)ttT>ttA	p.F588L	ZNF540_ENST00000316433.4_Missense_Mutation_p.F588L|ZNF540_ENST00000343599.5_Missense_Mutation_p.F588L|ZNF540_ENST00000589117.1_Missense_Mutation_p.F556L	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAGGCCTTTAGTCGTAGTG	0.408													18	51					0	0	0	0	A	38103945	T	A	38103945	3	1	222	1	0	0	0	0	1	0	0	0	18070	1751	61	5	1778	5	ZNF540	19	38103945	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1746821	38103945	21025038	953	40591											
RYR1	6261	broad.mit.edu	37	chr19	38956797	38956797	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgcggctgacgccggcGcagacgacactggtggaccg	7	4	16	14	7	0	2	0	1	0	1	0	4	0	3	2	4	1	2	2	4	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:38956797G>C	ENST00000355481.4	+	24	3068	c.2937G>C	c.(2935-2937)gcG>gcC	p.A979A	RYR1_ENST00000359596.3_Silent_p.A979A|RYR1_ENST00000360985.3_Silent_p.A979A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	979	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGACGCCGGCGCAGACGACAC	0.652													7	18					0	0	0	0	C	38956797	G	C	38956797	2	2	222	1	0	0	0	0	0	0	0	1	13853	1074	38	3		3	RYR1	19	38956797	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	852852	38956797	20172186	954	40592											
HIPK4	147746	broad.mit.edu	37	chr19	40886623	40886623	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcatccagctggtcgatGgctctttgcatacctggtgc	6	12	12	11	1	2	0	1	0	1	0	4	1	3	0	2	4	4	3	2	4	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:40886623G>T	ENST00000291823.2	-	3	1559	c.1275C>A	c.(1273-1275)gcC>gcA	p.A425A		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	425						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GCTGGTCGATGGCTCTTTGCA	0.617													41	79					9.85521e-28	2.38799e-27	1	0	T	40886623	G	T	40886623	2	4	222	1	0	0	0	0	0	0	0	1	7169	1335	47	4		4	HIPK4	19	40886623	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1929826	40886623	18242360	955	40593											
CYP2B6	1555	broad.mit.edu	37	chr19	41516003	41516003	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcaccactctccgctaCggcttcctgctcatgctcaa	8	9	6	18	2	3	0	2	0	1	0	5	0	4	0	4	1	4	5	4	1	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:41516003C>T	ENST00000324071.4	+	6	934	c.927C>T	c.(925-927)taC>taT	p.Y309Y	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	309					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CTCTCCGCTACGGCTTCCTGC	0.562													14	68					0	0	0	0	T	41516003	C	T	41516003	2	4	222	1	0	0	0	0	0	0	0	1	4196	547	19	1		1	CYP2B6	19	41516003	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	629380	41516003	17612980	956	40594											
CEACAM7	1087	broad.mit.edu	37	chr19	42190981	42190981	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattttttacatatcctataAttcgatagttggcatgcacc	11	17	5	8	1	0	0	0	0	0	0	2	1	1	0	2	1	2	3	2	1	6	10			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:42190981A>T	ENST00000006724.3	-	2	437	c.236T>A	c.(235-237)aTt>aAt	p.I79N	CEACAM7_ENST00000602225.1_Missense_Mutation_p.I79N|CEACAM7_ENST00000338196.4_Missense_Mutation_p.I79N|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.I79N	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	79	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ATATCCTATAATTCGATAGTT	0.458													46	116					0	0	0	0	T	42190981	A	T	42190981	3	4	222	1	0	0	0	0	1	0	0	0	3226	101	4	5	573	5	CEACAM7	19	42190981	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	674978	42190981	16938002	957	40595											
PSG11	5680	broad.mit.edu	37	chr19	43529181	43529181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgacttgggcagtggtaGgcaagttccagaagtttaaa	12	11	12	6	0	1	2	1	1	0	1	2	2	2	2	1	3	0	5	1	3	5	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:43529181G>T	ENST00000401740.1	-	2	195	c.92C>A	c.(91-93)cCt>cAt	p.P31H	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.P31H|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	31					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GGCAGTGGTAGGCAAGTTCCA	0.483													50	153					4.01344e-20	9.21063e-20	1	0	T	43529181	G	T	43529181	3	4	222	1	0	0	0	0	1	0	0	0	12733	1000	35	4	931	4	PSG11	19	43529181	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1338200	43529181	15599802	958	40596											
PSG2	5670	broad.mit.edu	37	chr19	43585036	43585036	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtggaatcacttacggtAtaaggtgaaggtgaaatatc	14	11	11	5	1	1	2	1	2	0	0	2	3	1	3	0	4	1	1	0	4	7	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:43585036A>G	ENST00000406487.1	-	2	525	c.427T>C	c.(427-429)Tac>Cac	p.Y143H		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	143	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CACTTACGGTATAAGGTGAAG	0.507													37	131					0	0	0	0	G	43585036	A	G	43585036	3	3	222	1	0	0	0	0	1	0	0	0	12734	449	16	5	596	5	PSG2	19	43585036	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	55855	43585036	15543947	959	40597											
XRCC1	7515	broad.mit.edu	37	chr19	44051050	44051050	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaccttctgaggaagctTgggggcttcatctccgctgc	6	11	12	12	1	4	2	2	1	2	1	5	3	4	3	2	3	2	3	2	3	1	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:44051050T>A	ENST00000262887.5	-	11	1826	c.1279A>T	c.(1279-1281)Aag>Tag	p.K427*	XRCC1_ENST00000543982.1_Nonsense_Mutation_p.K396*			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	427					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TGAGGAAGCTTGGGGGCTTCA	0.617								Other BER factors					18	64					0	0	0	0	A	44051050	T	A	44051050	4	1	222	1	0	0	0	0	0	1	0	0	17548	1821	63	5	650	5	XRCC1	19	44051050	Nonsense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	466014	44051050	15077933	960	40598											
CADM4	199731	broad.mit.edu	37	chr19	44131332	44131332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttacctagtaccgtgagcGtggcaatctggtggtgggtg	6	11	16	8	3	1	1	0	1	1	0	1	1	1	1	2	4	3	3	2	4	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:44131332G>T	ENST00000222374.2	-	3	398	c.350C>A	c.(349-351)aCg>aAg	p.T117K		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	117	Ig-like V-type.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TACCGTGAGCGTGGCAATCTG	0.587													26	71					2.46105e-21	5.7356e-21	1	0	T	44131332	G	T	44131332	3	4	222	1	0	0	0	0	1	0	0	0	2594	1145	40	3	844	3	CADM4	19	44131332	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	80282	44131332	14997651	961	40599											
OPA3	80207	broad.mit.edu	37	chr19	46056875	46056875	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttcctccagggcgcccTgtggcggcgccgcctgcacc	3	6	14	18	4	0	0	0	0	0	0	2	0	2	0	6	3	1	3	6	3	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:46056875T>A	ENST00000263275.4	-	2	491	c.437A>T	c.(436-438)cAg>cTg	p.Q146L	OPA3_ENST00000544371.1_Missense_Mutation_p.Q93L|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	146					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CAGGGCGCCCTGTGGCGGCGC	0.716													13	39					0	0	0	0	A	46056875	T	A	46056875	3	1	222	1	0	0	0	0	1	0	0	0	10943	1580	55	5	511	5	OPA3	19	46056875	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	1925543	46056875	13072108	962	40600											
DMWD	1762	broad.mit.edu	37	chr19	46290016	46290016	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggcggggccgaggcgcaGgggtggctgacgttgtacag	5	6	22	8	4	0	1	0	1	0	0	0	2	0	1	1	8	1	4	1	8	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:46290016G>A	ENST00000270223.6	-	3	783	c.738C>T	c.(736-738)ccC>ccT	p.P246P	DMWD_ENST00000377735.3_Silent_p.P246P	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	246					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CCGAGGCGCAGGGGTGGCTGA	0.627													22	43					0	0	0	0	A	46290016	G	A	46290016	2	1	222	1	0	0	0	0	0	0	0	1	4630	987	35	4		4	DMWD	19	46290016	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	233141	46290016	12838967	963	40601											
ARHGAP35	2909	broad.mit.edu	37	chr19	47503715	47503715	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacgcgcacctaccagacaAtcattgaactctttatccag	12	9	5	15	2	2	2	1	1	1	1	3	2	3	2	4	0	2	1	4	0	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:47503715A>G	ENST00000404338.3	+	6	4270	c.4270A>G	c.(4270-4272)Atc>Gtc	p.I1424V		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1424	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTACCAGACAATCATTGAACT	0.592													60	146					0	0	0	0	G	47503715	A	G	47503715	3	3	222	1	0	0	0	0	1	0	0	0	6845	101	4	5	4292	5	ARHGAP35	19	47503715	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1213699	47503715	11625268	964	40602											
KPTN	11133	broad.mit.edu	37	chr19	47978726	47978726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccccgtcctccaacccctGtagccgacgtctcctctgct	4	10	7	20	3	2	0	0	0	2	0	5	1	4	0	8	0	4	2	8	0	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:47978726G>T	ENST00000338134.3	-	12	1365	c.1258C>A	c.(1258-1260)Cag>Aag	p.Q420K	KPTN_ENST00000536339.1_Missense_Mutation_p.Q180K	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	420					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TCCAACCCCTGTAGCCGACGT	0.612													10	20					3.86212e-05	6.34909e-05	1	0	T	47978726	G	T	47978726	3	4	222	1	0	0	0	0	1	0	0	0	8489	1386	48	4	56	4	KPTN	19	47978726	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	475011	47978726	11150257	965	40603											
CRX	1406	broad.mit.edu	37	chr19	48339545	48339545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaccaccttcacccggaGccaactggaggagctggagg	9	4	14	14	2	1	0	1	0	0	0	1	4	1	4	4	5	3	2	4	5	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:48339545G>A	ENST00000221996.7	+	3	352	c.146G>A	c.(145-147)aGc>aAc	p.S49N	CRX_ENST00000539067.1_Missense_Mutation_p.S49N|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	49					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TTCACCCGGAGCCAACTGGAG	0.632													22	58					0	0	0	0	A	48339545	G	A	48339545	3	1	222	1	0	0	0	0	1	0	0	0	3932	971	34	4	152	4	CRX	19	48339545	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	360819	48339545	10789438	966	40604											
PNKP	11284	broad.mit.edu	37	chr19	50364538	50364538	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggcagtacagccgcccCagcctcggctccacccatag	9	5	9	18	2	0	0	0	0	0	0	2	0	1	0	6	2	4	3	6	2	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:50364538C>A	ENST00000322344.3	-	17	1642	c.1533G>T	c.(1531-1533)ctG>ctT	p.L511L	PNKP_ENST00000596014.1_Silent_p.L511L|PNKP_ENST00000600910.1_3'UTR|PNKP_ENST00000600573.1_Silent_p.L480L	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	511					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		ACAGCCGCCCCAGCCTCGGCT	0.622								Other BER factors					45	80					1.8453e-21	4.31084e-21	1	0	A	50364538	C	A	50364538	2	1	222	1	0	0	0	0	0	0	0	1	12219	581	21	4		4	PNKP	19	50364538	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2024993	50364538	8764445	967	40605											
SYT3	84258	broad.mit.edu	37	chr19	51133373	51133373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggccgctcctcactgctggGgtccggctgggaggtcagag	4	8	17	12	2	2	1	2	0	0	1	4	2	4	2	3	6	1	3	3	6	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:51133373G>T	ENST00000338916.4	-	3	1363	c.730C>A	c.(730-732)Ccc>Acc	p.P244T	SYT3_ENST00000593901.1_Missense_Mutation_p.P244T|SYT3_ENST00000544769.1_Missense_Mutation_p.P244T|SYT3_ENST00000600079.1_Missense_Mutation_p.P244T	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	244						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCACTGCTGGGGTCCGGCTGG	0.642													9	25					2.17888e-05	3.61849e-05	1	0	T	51133373	G	T	51133373	3	4	222	1	0	0	0	0	1	0	0	0	15566	1232	43	4	1066	4	SYT3	19	51133373	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	768835	51133373	7995610	968	40606											
GPR32	2854	broad.mit.edu	37	chr19	51274592	51274592	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atccgggccaagctcttgcgGgagggctgggtccatgccaa	7	7	15	12	2	1	0	0	0	1	0	3	1	3	1	4	4	3	2	4	4	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:51274592G>T	ENST00000270590.4	+	1	872	c.735G>T	c.(733-735)cgG>cgT	p.R245R		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	245						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGCTCTTGCGGGAGGGCTGGG	0.602													20	49					4.63292e-17	1.01096e-16	1	0	T	51274592	G	T	51274592	2	4	222	1	0	0	0	0	0	0	0	1	6737	1219	43	4		4	GPR32	19	51274592	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	141219	51274592	7854391	969	40607											
CEACAM18	729767	broad.mit.edu	37	chr19	51984682	51984682	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcatctccgtcaatgccAgctccctggtggagaacatg	8	9	12	12	1	2	1	1	0	1	1	4	2	3	1	3	3	3	2	3	3	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:51984682A>G	ENST00000396477.4	+	3	457	c.436A>G	c.(436-438)Agc>Ggc	p.S146G	CEACAM18_ENST00000451626.1_Missense_Mutation_p.S207G	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	207						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CGTCAATGCCAGCTCCCTGGT	0.502													13	35					0	0	0	0	G	51984682	A	G	51984682	3	3	222	1	0	0	0	0	1	0	0	0	3218	188	7	5	633	5	CEACAM18	19	51984682	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	710090	51984682	7144301	970	40608											
PRKCG	5582	broad.mit.edu	37	chr19	54401341	54401341	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcagcttcctcatggtTctaggaaaaggcagttttgg	9	13	11	8	0	3	0	2	0	1	0	4	2	4	1	1	4	1	4	1	4	3	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:54401341T>C	ENST00000536044.1	+	9	1276	c.980T>C	c.(979-981)tTc>tCc	p.F327S	PRKCG_ENST00000263431.3_Silent_p.V356V|PRKCG_ENST00000540413.1_Silent_p.V356V|PRKCG_ENST00000542049.1_Silent_p.V243V			P05129	KPCG_HUMAN	protein kinase C, gamma	0					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TCCTCATGGTTCTAGGAAAAG	0.572													19	42					0	0	0	0	C	54401341	T	C	54401341	3	2	222	1	0	0	0	0	1	0	0	0	12592	1770	62	5	1106	5	PRKCG	19	54401341	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2416659	54401341	4727642	971	40609											
PRKCG	5582	broad.mit.edu	37	chr19	54403889	54403889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagctggacaatgtgatGctggatgctgagggacacat	11	9	14	7	0	0	3	0	3	0	0	0	6	0	6	0	3	3	3	0	3	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:54403889G>A	ENST00000263431.3	+	14	1743	c.1461G>A	c.(1459-1461)atG>atA	p.M487I	PRKCG_ENST00000540413.1_Missense_Mutation_p.M487I|PRKCG_ENST00000542049.1_Missense_Mutation_p.M374I	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	487	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACAATGTGATGCTGGATGCTG	0.542													70	129					0	0	0	0	A	54403889	G	A	54403889	3	1	222	1	0	0	0	0	1	0	0	0	12592	1319	46	4	1515	4	PRKCG	19	54403889	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2548	54403889	4725094	972	40610											
LILRA6	79168	broad.mit.edu	37	chr19	54742904	54742904	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaatcccgaggaacaccagGaccaagcctgccatgcccat	13	4	9	15	1	0	1	0	0	0	1	1	4	1	3	6	2	4	0	6	2	3	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:54742904G>T	ENST00000396365.2	-	8	1410	c.1371C>A	c.(1369-1371)gtC>gtA	p.V457V	LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000245621.5_Silent_p.V440V|LILRA6_ENST00000440558.2_Intron	NM_024318.2	NP_077294.2			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAACACCAGGACCAAGCCTG	0.577													19	55					1.33834e-09	2.50361e-09	1	0	T	54742904	G	T	54742904	2	4	222	1	0	0	0	0	0	0	0	1	8843	1161	41	2		2	LILRA6	19	54742904	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	339015	54742904	4386079	973	40611											
LILRA4	23547	broad.mit.edu	37	chr19	54848235	54848235	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggactcatggggaattcagCctggtacttatgagctccgt	9	11	12	9	1	2	1	2	1	0	0	3	3	3	3	2	4	3	2	2	4	3	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:54848235C>A	ENST00000291759.4	-	6	1188	c.1132G>T	c.(1132-1134)Gct>Tct	p.A378S	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	378	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGGAATTCAGCCTGGTACTTA	0.587													51	158					1.21353e-23	2.9009e-23	1	0	A	54848235	C	A	54848235	3	1	222	1	0	0	0	0	1	0	0	0	8841	739	26	4	379	4	LILRA4	19	54848235	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	105331	54848235	4280748	974	40612											
TTYH1	57348	broad.mit.edu	37	chr19	54933436	54933436	+	Frame_Shift_Del	DEL	C	C	-																															ccctggaggaggtgctcgagCcgcgcacggagctggtggct																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:54933436delC	ENST00000301194.4	+	4	612	c.490delC	c.(490-492)cgfs	p.P164fs	TTYH1_ENST00000391739.3_Frame_Shift_Del_p.P213fs|TTYH1_ENST00000376530.3_Frame_Shift_Del_p.P164fs|TTYH1_ENST00000376531.3_Frame_Shift_Del_p.P164fs			Q9H313	TTYH1_HUMAN	tweety family member 1	164					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GGTGCTCGAGCCGCGCACGGA	0.716													3	6	---	---	---	---					-	54933436	C	-	54933436	7	5	222	1	0	1	0	1	0	0	0	0	16835	739	26	0	504	0	TTYH1	19	54933436	Frame_Shift_Del	DEL	C	TCGA-CR-7402-01A-11D-2012-08	85201	54933436	4195547	975	40613											
LILRB1	10859	broad.mit.edu	37	chr19	55146717	55146717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attcttcccccaggtccagcCcagctgccgatgcccaggaa	8	7	9	17	1	1	0	0	0	1	0	3	2	3	1	6	2	4	1	6	2	1	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:55146717C>A	ENST00000396331.1	+	13	1924	c.1567C>A	c.(1567-1569)Cca>Aca	p.P523T	LILRB1_ENST00000396321.2_Missense_Mutation_p.P523T|LILRB1_ENST00000448689.1_Silent_p.A497A|LILRB1_ENST00000434867.2_Missense_Mutation_p.P523T|LILRB1_ENST00000427581.2_Missense_Mutation_p.P573T|LILRB1_ENST00000324602.7_Missense_Mutation_p.P524T|LILRB1_ENST00000418536.2_Missense_Mutation_p.P507T|LILRB1_ENST00000396317.1_Missense_Mutation_p.P507T|LILRB1_ENST00000396327.3_Missense_Mutation_p.P524T|LILRB1_ENST00000396332.4_Missense_Mutation_p.P523T|LILRB1_ENST00000396315.1_Missense_Mutation_p.P524T|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	523					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGGTCCAGCCCAGCTGCCGA	0.607										HNSCC(37;0.09)			15	77					0.000422831	0.000679103	1	0	A	55146717	C	A	55146717	3	1	222	1	0	0	0	0	1	0	0	0	8844	623	22	4	1612	4	LILRB1	19	55146717	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	213281	55146717	3982266	976	40614											
NCR1	9437	broad.mit.edu	37	chr19	55417664	55417664	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtcttccagggctgtgTctgagtcagaggatcagcgc	6	10	13	12	2	4	2	2	1	2	1	6	3	6	3	2	2	1	1	2	2	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:55417664T>A	ENST00000594765.1	+	2	67	c.42T>A	c.(40-42)tgT>tgA	p.C14*	NCR1_ENST00000350790.5_Nonsense_Mutation_p.C14*|NCR1_ENST00000598576.1_Intron|NCR1_ENST00000447255.1_Nonsense_Mutation_p.C14*|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000338835.5_Nonsense_Mutation_p.C14*|NCR1_ENST00000291890.4_Nonsense_Mutation_p.C14*			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	14					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CAGGGCTGTGTCTGAGTCAGA	0.612													14	56					0	0	0	0	A	55417664	T	A	55417664	4	1	222	1	0	0	0	0	0	1	0	0	10307	1673	58	5	48	5	NCR1	19	55417664	Nonsense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	270947	55417664	3711319	977	40615											
NLRP4	147945	broad.mit.edu	37	chr19	56370017	56370017	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttgtgaagacgacctcCggagaaatggggttgttgac	10	11	14	6	2	0	4	0	2	0	2	1	6	1	4	2	3	0	3	2	3	2	4	rs140509890		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:56370017C>A	ENST00000301295.6	+	3	1680	c.1258C>A	c.(1258-1260)Cgg>Agg	p.R420R	NLRP4_ENST00000346986.5_Silent_p.R420R|NLRP4_ENST00000587891.1_Silent_p.R345R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	420	NACHT.						ATP binding	p.R420W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGACGACCTCCGGAGAAATGG	0.582													32	104					4.74835e-14	9.75135e-14	1	0	A	56370017	C	A	56370017	2	1	222	1	0	0	0	0	0	0	0	1	10549	643	23	3		3	NLRP4	19	56370017	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	952353	56370017	2758966	978	40616											
NLRP4	147945	broad.mit.edu	37	chr19	56372754	56372754	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctttcttgaccacaggtCggattacagcctcatctgtt	7	14	8	12	1	3	1	1	1	2	0	5	2	4	2	3	2	2	1	3	2	1	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:56372754C>A	ENST00000301295.6	+	4	2281	c.1859C>A	c.(1858-1860)tCg>tAg	p.S620*	NLRP4_ENST00000346986.5_Nonsense_Mutation_p.S620*|NLRP4_ENST00000587891.1_Nonsense_Mutation_p.S545*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	620							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACCACAGGTCGGATTACAGC	0.552													16	25					1.5739e-10	3.00178e-10	1	0	A	56372754	C	A	56372754	4	1	222	1	0	0	0	0	0	1	0	0	10549	893	31	3	1869	3	NLRP4	19	56372754	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2737	56372754	2756229	979	40617											
NLRP4	147945	broad.mit.edu	37	chr19	56382227	56382227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcagcgagcagtgctgcGaatacatctctgaaatgctt	11	10	9	11	2	2	1	1	1	1	0	3	3	2	1	1	0	6	3	1	0	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:56382227G>A	ENST00000301295.6	+	7	2811	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E741K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E722K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	797							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCAGTGCTGCGAATACATCTC	0.512													25	51					0	0	0	0	A	56382227	G	A	56382227	3	1	222	1	0	0	0	0	1	0	0	0	10549	1059	37	1	2411	1	NLRP4	19	56382227	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	9473	56382227	2746756	980	40618											
PEG3	5178	broad.mit.edu	37	chr19	57335011	57335011	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcttctgttccgggtcAtgtcgtcgtcgctggtcacg	3	14	11	13	5	4	0	2	0	2	0	9	0	5	0	1	2	0	2	1	2	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:57335011A>T	ENST00000326441.9	-	5	794	c.431T>A	c.(430-432)aTg>aAg	p.M144K	ZIM2_ENST00000593931.1_Missense_Mutation_p.M18K|ZIM2_ENST00000221722.5_Missense_Mutation_p.M18K|PEG3_ENST00000423103.2_Missense_Mutation_p.M144K|ZIM2_ENST00000599935.1_Missense_Mutation_p.M18K|PEG3_ENST00000598410.1_Missense_Mutation_p.M18K|ZIM2_ENST00000391708.3_Missense_Mutation_p.M18K|PEG3_ENST00000593695.1_Missense_Mutation_p.M18K|ZIM2_ENST00000593711.1_Missense_Mutation_p.M18K|ZIM2_ENST00000601070.1_Missense_Mutation_p.M18K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	144					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTTCCGGGTCATGTCGTCGTC	0.552													29	62					0	0	0	0	T	57335011	A	T	57335011	3	4	222	1	0	0	0	0	1	0	0	0	11791	217	8	5	4365	5	PEG3	19	57335011	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	952784	57335011	1793972	981	40619											
USP29	57663	broad.mit.edu	37	chr19	57641686	57641686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgaaagcaccaaaccacCtcttcccttgagcagtagtg	13	8	7	13	0	1	2	0	2	1	0	2	2	2	2	4	0	3	3	4	0	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:57641686C>T	ENST00000254181.4	+	4	2097	c.1643C>T	c.(1642-1644)cCt>cTt	p.P548L	USP29_ENST00000598197.1_Missense_Mutation_p.P548L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	548					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACCAAACCACCTCTTCCCTTG	0.418													52	143					0	0	0	0	T	57641686	C	T	57641686	3	4	222	1	0	0	0	0	1	0	0	0	17155	681	24	4	1645	4	USP29	19	57641686	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	306675	57641686	1487297	982	40620											
ZNF324B	388569	broad.mit.edu	37	chr19	58967712	58967712	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtttcgccaagggcgccgtGctgctcagccaccggcgcat	5	7	14	15	5	1	0	1	0	0	0	2	0	1	0	4	3	3	4	4	3	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:58967712G>T	ENST00000391696.1	+	3	2303	c.1371G>T	c.(1369-1371)gtG>gtT	p.V457V	ZNF324B_ENST00000336614.4_Silent_p.V467V|ZNF324B_ENST00000545523.1_Silent_p.V467V			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	467				D -> G (in Ref. 1; BAC87113).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGGGCGCCGTGCTGCTCAGCC	0.682													23	68					1.22574e-08	2.23726e-08	1	0	T	58967712	G	T	58967712	2	4	222	1	0	0	0	0	0	0	0	1	17940	1306	46	4		4	ZNF324B	19	58967712	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1326026	58967712	161271	983	40621											
CHGB	1114	broad.mit.edu	37	chr20	5903868	5903868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccctgaggacctggagtggGagcgctataggggcagagga	9	5	18	9	1	0	2	0	1	0	1	0	6	0	6	3	6	1	2	3	6	2	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:5903868G>A	ENST00000378961.4	+	4	1282	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	360						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCTGGAGTGGGAGCGCTATAG	0.527													33	94					0	0	0	0	A	5903868	G	A	5903868	3	1	222	1	0	0	0	0	1	0	0	0	3368	1175	41	2	1092	2	CHGB	20	5903868	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08		5903868	57121652	984	40622											
HAO1	54363	broad.mit.edu	37	chr20	7915261	7915261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttcagcaacattccggagCatccttggatacagcttcca	10	11	8	12	1	1	0	1	0	0	0	4	2	4	2	3	2	5	4	3	2	2	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:7915261C>G	ENST00000378789.3	-	2	210	c.159G>C	c.(157-159)atG>atC	p.M53I		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	53	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CATTCCGGAGCATCCTTGGAT	0.403													24	54					0	0	0	0	G	7915261	C	G	7915261	3	3	222	1	0	0	0	0	1	0	0	0	7001	710	25	4	981	4	HAO1	20	7915261	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2011393	7915261	55110259	985	40623											
FLRT3	23767	broad.mit.edu	37	chr20	14306911	14306911	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggtgacagacttcacAgtaattgtaattgtttttct	11	16	8	6	0	3	3	2	1	1	2	3	3	3	3	0	1	0	3	0	1	2	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:14306911A>C	ENST00000378053.3	-	2	1498	c.1242T>G	c.(1240-1242)acT>acG	p.T414T	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Silent_p.T414T	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	414	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGACTTCACAGTAATTGTAA	0.468													46	117					0	0	0	0	C	14306911	A	C	14306911	2	2	222	1	0	0	0	0	0	0	0	1	5985	175	7	5		5	FLRT3	20	14306911	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	6391650	14306911	48718609	986	40624											
PCSK2	5126	broad.mit.edu	37	chr20	17446125	17446125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttgatgcaggtgccatgGtgaaaatggctaaagactgg	11	10	13	7	0	0	3	0	2	0	1	1	3	1	3	2	4	2	2	2	4	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:17446125G>A	ENST00000262545.2	+	11	1672	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	PCSK2_ENST00000377899.1_Missense_Mutation_p.V434M|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.V418M	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	453					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGTGCCATGGTGAAAATGGC	0.567													10	20					0	0	0	0	A	17446125	G	A	17446125	3	1	222	1	0	0	0	0	1	0	0	0	11672	1261	44	4	1399	4	PCSK2	20	17446125	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3139214	17446125	45579395	987	40625											
DTD1	92675	broad.mit.edu	37	chr20	18724787	18724787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggaaagaaaagaccaGagctaagggaccttctgaat	17	5	12	7	0	1	5	0	1	1	4	1	7	1	7	2	2	1	2	2	2	5	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:18724787G>T	ENST00000377452.3	+	5	701	c.521G>T	c.(520-522)aGa>aTa	p.R174I		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	174					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						GAAAAGACCAGAGCTAAGGGA	0.448													12	17					3.07112e-06	5.2292e-06	1	0	T	18724787	G	T	18724787	3	4	222	1	0	0	0	0	1	0	0	0	4822	942	33	2	539	2	DTD1	20	18724787	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1278662	18724787	44300733	988	40626											
FOXA2	3170	broad.mit.edu	37	chr20	22563227	22563227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaggaaacagtcgttgaagGagagcgagtggcggatggag	12	6	18	5	3	1	2	1	1	0	1	2	7	1	5	0	5	2	1	0	5	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:22563227G>A	ENST00000419308.2	-	2	837	c.635C>T	c.(634-636)tCc>tTc	p.S212F	FOXA2_ENST00000377115.4_Missense_Mutation_p.S212F|FOXA2_ENST00000319993.4_Missense_Mutation_p.S218F	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	212					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GTCGTTGAAGGAGAGCGAGTG	0.607													15	37					0	0	0	0	A	22563227	G	A	22563227	3	1	222	1	0	0	0	0	1	0	0	0	6035	1174	41	2	742	2	FOXA2	20	22563227	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3838440	22563227	40462293	989	40627											
SSTR4	6754	broad.mit.edu	37	chr20	23017238	23017238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggaagccctgcaacCagaacccggccgcaagcgca	12	1	11	17	3	0	1	0	0	0	1	0	2	0	2	5	2	6	4	5	2	4	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:23017238C>A	ENST00000255008.3	+	1	1182	c.1118C>A	c.(1117-1119)cCa>cAa	p.P373Q	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	373					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.P373Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCCTGCAACCAGAACCCGGC	0.667													24	59					1.04121e-07	1.85876e-07	1	0	A	23017238	C	A	23017238	3	1	222	1	0	0	0	0	1	0	0	0	15290	594	21	4	1120	4	SSTR4	20	23017238	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	454011	23017238	40008282	990	40628											
THBD	7056	broad.mit.edu	37	chr20	23029284	23029284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagaggtcgttgcaggaCtgcgtcgcggatgcggtgca	6	8	17	10	6	0	1	0	0	0	1	3	3	0	3	0	4	4	4	0	4	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:23029284C>A	ENST00000377103.2	-	1	1094	c.858G>T	c.(856-858)caG>caT	p.Q286H		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	286	EGF-like 2.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	CGTTGCAGGACTGCGTCGCGG	0.716													10	15					0.000442599	0.000710268	1	0	A	23029284	C	A	23029284	3	1	222	1	0	0	0	0	1	0	0	0	15946	564	20	4	873	4	THBD	20	23029284	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	12046	23029284	39996236	991	40629											
CD93	22918	broad.mit.edu	37	chr20	23064994	23064994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctccttcttctcctccctCttcgctctccgcttgcgata	2	17	4	18	3	5	0	0	0	5	0	10	1	6	0	4	0	1	2	4	0	1	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:23064994C>G	ENST00000246006.4	-	1	1983	c.1836G>C	c.(1834-1836)aaG>aaC	p.K612N		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	612					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCTCCTCCCTCTTCGCTCTCC	0.567													52	149					0	0	0	0	G	23064994	C	G	23064994	3	3	222	1	0	0	0	0	1	0	0	0	3076	912	32	2	130	2	CD93	20	23064994	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	35710	23064994	39960526	992	40630											
CST8	10047	broad.mit.edu	37	chr20	23476506	23476506	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttggtaggagcacttccctgGaatggtgaattcactgtgat	9	13	12	7	0	1	2	1	2	0	0	2	4	2	4	1	4	1	2	1	4	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:23476506G>C	ENST00000246012.1	+	4	741	c.384G>C	c.(382-384)tgG>tgC	p.W128C		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	128						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CACTTCCCTGGAATGGTGAAT	0.358													26	48					0	0	0	0	C	23476506	G	C	23476506	3	2	222	1	0	0	0	0	1	0	0	0	4010	1183	41	2	394	2	CST8	20	23476506	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	411512	23476506	39549014	993	40631											
CST5	1473	broad.mit.edu	37	chr20	23860133	23860133	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggctgtagtactcatcctTattaatgaccttgttgtact	8	16	8	9	1	1	1	1	1	0	0	2	1	2	1	2	1	2	5	2	1	5	7			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:23860133T>A	ENST00000304710.4	-	1	254	c.181A>T	c.(181-183)Aag>Tag	p.K61*		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	61						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TACTCATCCTTATTAATGACC	0.557													70	224					0	0	0	0	A	23860133	T	A	23860133	4	1	222	1	0	0	0	0	0	1	0	0	4007	1763	61	5	259	5	CST5	20	23860133	Nonsense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	383627	23860133	39165387	994	40632											
ACSS1	84532	broad.mit.edu	37	chr20	24995843	24995843	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgtgaagccactcccaggCctcacagttgatgggctctc	7	9	10	15	0	2	2	1	2	1	0	4	2	3	2	4	2	1	2	4	2	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:24995843C>A	ENST00000537502.1	-	6	2552	c.1021G>T	c.(1021-1023)Gcc>Tcc	p.A341S	ACSS1_ENST00000432802.2_Missense_Mutation_p.A424S|ACSS1_ENST00000323482.4_Missense_Mutation_p.A424S|ACSS1_ENST00000542618.1_Missense_Mutation_p.A303S			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	424					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACTCCCAGGCCTCACAGTTG	0.532													20	39					7.41877e-09	1.35664e-08	1	0	A	24995843	C	A	24995843	3	1	222	1	0	0	0	0	1	0	0	0	188	739	26	4	827	4	ACSS1	20	24995843	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1135710	24995843	38029677	995	40633											
GSS	2937	broad.mit.edu	37	chr20	33519801	33519801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggccacagcctcaggctGgccagggagcaacatctcca	9	4	13	15	1	2	0	1	0	1	0	3	1	2	1	4	4	3	2	4	4	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:33519801G>T	ENST00000216951.2	-	10	1068	c.970C>A	c.(970-972)Cag>Aag	p.Q324K	GSS_ENST00000451957.2_Missense_Mutation_p.Q213K|GSS_ENST00000541098.1_Missense_Mutation_p.Q196K	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	324					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GCCTCAGGCTGGCCAGGGAGC	0.632													51	72					1.35964e-18	3.05918e-18	1	0	T	33519801	G	T	33519801	3	4	222	1	0	0	0	0	1	0	0	0	6879	1357	47	4	470	4	GSS	20	33519801	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	8523958	33519801	29505719	996	40634											
LBP	3929	broad.mit.edu	37	chr20	36993246	36993246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggtgaaatctttcatcGtaaccaccgttctccagtta	10	12	7	12	2	3	1	1	1	2	0	5	1	3	1	4	1	1	3	4	1	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:36993246G>A	ENST00000217407.2	+	8	922	c.761G>A	c.(760-762)cGt>cAt	p.R254H		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	254					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ATCTTTCATCGTAACCACCGT	0.488													38	61					0	0	0	0	A	36993246	G	A	36993246	3	1	222	1	0	0	0	0	1	0	0	0	8704	1145	40	1	791	1	LBP	20	36993246	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	3473445	36993246	26032274	997	40635											
PTPRT	11122	broad.mit.edu	37	chr20	41306563	41306563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcccgtacccccctcacCtggtcgtgtgaggagcactc	5	8	11	17	3	1	1	1	1	0	0	4	2	2	2	5	3	2	2	5	3	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:41306563C>A	ENST00000373198.3	-	7	1331	c.1096G>T	c.(1096-1098)Ggt>Tgt	p.G366C	PTPRT_ENST00000373190.1_Missense_Mutation_p.G366C|PTPRT_ENST00000373184.1_Missense_Mutation_p.G366C|PTPRT_ENST00000373193.3_Missense_Mutation_p.G366C|PTPRT_ENST00000373201.1_Missense_Mutation_p.G366C|PTPRT_ENST00000356100.2_Missense_Mutation_p.G366C|PTPRT_ENST00000373187.1_Missense_Mutation_p.G366C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	366	Fibronectin type-III 1.				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)				CCCCCCTCACCTGGTCGTGTG	0.562													32	38					2.85442e-18	6.35653e-18	1	0	A	41306563	C	A	41306563	3	1	222	1	0	0	0	0	1	0	0	0	12894	681	24	4	3390	4	PTPRT	20	41306563	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	4313317	41306563	21718957	998	40636											
MYBL2	4605	broad.mit.edu	37	chr20	42328423	42328423	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgaccaactggccctcCgtccctcctaccataaagga	9	9	6	17	1	1	1	0	1	1	0	4	2	4	2	6	2	2	0	6	2	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:42328423C>T	ENST00000217026.4	+	7	817	c.690C>T	c.(688-690)tcC>tcT	p.S230S	MYBL2_ENST00000396863.4_Silent_p.S206S	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	230						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACTGGCCCTCCGTCCCTCCTA	0.488													16	28					0	0	0	0	T	42328423	C	T	42328423	2	4	222	1	0	0	0	0	0	0	0	1	10080	639	23	1		1	MYBL2	20	42328423	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1021860	42328423	20697097	999	40637											
C20orf85	128602	broad.mit.edu	37	chr20	56735866	56735866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtgctggcccaagcaGggcgtgcactgaatccagac	9	6	14	12	1	0	2	0	1	0	1	1	3	1	2	2	2	4	4	2	2	2	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:56735866G>T	ENST00000371168.3	+	4	463	c.402G>T	c.(400-402)caG>caT	p.Q134H		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	134										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GGCCCAAGCAGGGCGTGCACT	0.597													11	14					3.07112e-06	5.2292e-06	1	0	T	56735866	G	T	56735866	3	4	222	1	0	0	0	0	1	0	0	0	2140	991	35	4	416	4	C20orf85	20	56735866	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	14407443	56735866	6289654	1000	40638											
NPEPL1	79716	broad.mit.edu	37	chr20	57268861	57268861	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccctctacctgaactaCgccaccgtggctgccctgcc	5	9	8	19	2	1	1	0	1	1	0	2	1	2	1	7	1	5	1	7	1	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:57268861C>T	ENST00000356091.6	+	2	507	c.219C>T	c.(217-219)taC>taT	p.Y73Y	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Silent_p.Y45Y|NPEPL1_ENST00000525817.1_Silent_p.Y25Y	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	73					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			ACCTGAACTACGCCACCGTGG	0.672													29	34					0	0	0	0	T	57268861	C	T	57268861	2	4	222	1	0	0	0	0	0	0	0	1	10644	547	19	1		1	NPEPL1	20	57268861	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	532995	57268861	5756659	1001	40639											
PHACTR3	116154	broad.mit.edu	37	chr20	58330273	58330273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcaaccccgatggaggacCccgatctgtacagagtgaac	11	7	11	12	2	1	2	0	1	1	1	1	6	1	4	4	2	4	2	4	2	3	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:58330273C>T	ENST00000371015.1	+	4	862	c.395C>T	c.(394-396)cCc>cTc	p.P132L	PHACTR3_ENST00000359926.3_Missense_Mutation_p.P129L|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P91L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P91L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P91L|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P91L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P91L	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	132						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GATGGAGGACCCCGATCTGTA	0.587													9	17					0	0	0	0	T	58330273	C	T	58330273	3	4	222	1	0	0	0	0	1	0	0	0	11883	623	22	4	409	4	PHACTR3	20	58330273	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1061412	58330273	4695247	1002	40640											
DIDO1	11083	broad.mit.edu	37	chr20	61525097	61525097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctagtatggacttgggcaCcatcacagaagtcaagacag	14	7	11	9	0	2	2	2	0	0	2	2	3	2	3	1	2	1	3	1	2	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:61525097C>A	ENST00000266070.4	-	12	3347	c.3022G>T	c.(3022-3024)Gtg>Ttg	p.V1008L	DIDO1_ENST00000395335.2_Missense_Mutation_p.V1008L|DIDO1_ENST00000395340.1_Missense_Mutation_p.V1008L|DIDO1_ENST00000395343.1_Missense_Mutation_p.V1008L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1008					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GACTTGGGCACCATCACAGAA	0.557													39	53					2.05212e-20	4.73734e-20	1	0	A	61525097	C	A	61525097	3	1	222	1	0	0	0	0	1	0	0	0	4559	507	18	4	3749	4	DIDO1	20	61525097	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3194824	61525097	1500423	1003	40641											
MYT1	4661	broad.mit.edu	37	chr20	62830234	62830234	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagcttagaaaatgaagAcaagcgagctcgcacccgat	15	6	11	9	3	0	4	0	2	0	2	1	7	0	4	1	0	3	3	1	0	5	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:62830234A>T	ENST00000536311.1	+	3	384	c.20A>T	c.(19-21)gAc>gTc	p.D7V	MYT1_ENST00000328439.1_Missense_Mutation_p.D7V|MYT1_ENST00000360149.4_Missense_Mutation_p.D7V			Q01538	MYT1_HUMAN	myelin transcription factor 1	7					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAAAATGAAGACAAGCGAGCT	0.557													11	29					0	0	0	0	T	62830234	A	T	62830234	3	4	222	1	0	0	0	0	1	0	0	0	10176	275	10	5	22	5	MYT1	20	62830234	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1305137	62830234	195286	1004	40642											
HSPA13	6782	broad.mit.edu	37	chr21	15746151	15746151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccccaactaaaaccacCtcatcaatctcagtcttttc	12	10	3	16	0	4	0	3	0	2	0	6	1	4	0	4	0	3	0	4	0	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr21:15746151C>A	ENST00000285667.3	-	5	1270	c.1203G>T	c.(1201-1203)gaG>gaT	p.E401D	HSPA13_ENST00000544452.1_Missense_Mutation_p.E193D	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	401						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CTAAAACCACCTCATCAATCT	0.438													55	85					2.31418e-15	4.9126e-15	1	0	A	15746151	C	A	15746151	3	1	222	1	0	0	0	0	1	0	0	0	7458	680	24	4	216	4	HSPA13	21	15746151	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08		15746151	32383744	1005	40643											
SAMSN1	64092	broad.mit.edu	37	chr21	15872886	15872886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaggaactcctgcagagtCttggattttttgctgttact	7	17	9	8	0	2	1	0	0	2	1	3	3	3	3	1	2	4	3	1	2	3	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr21:15872886C>A	ENST00000285670.2	-	7	1110	c.936G>T	c.(934-936)aaG>aaT	p.K312N	SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.K76N|SAMSN1_ENST00000400566.1_Missense_Mutation_p.K244N	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	244					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CCTGCAGAGTCTTGGATTTTT	0.433													10	57					2.80697e-09	5.18149e-09	1	0	A	15872886	C	A	15872886	3	1	222	1	0	0	0	0	1	0	0	0	13915	912	32	2	401	2	SAMSN1	21	15872886	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	126735	15872886	32257009	1006	40644											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338577	28338577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcctccccctgccgcCggcggggctgggcggctgct	1	6	15	19	4	0	0	0	0	0	0	2	0	2	0	6	5	2	4	6	5	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr21:28338577C>T	ENST00000284987.5	-	1	255	c.134G>A	c.(133-135)cGg>cAg	p.R45Q		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	45					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCCCTGCCGCCGGCGGGGCTG	0.766													7	13					0	0	0	0	T	28338577	C	T	28338577	3	4	222	1	0	0	0	0	1	0	0	0	269	652	23	1	2690	1	ADAMTS5	21	28338577	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	12465691	28338577	19791318	1007	40645											
KRTAP13-3	337960	broad.mit.edu	37	chr21	31797760	31797760	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgataacaagatgaatggaaCcaccttctaggtggaaaata	17	9	9	6	0	1	3	0	2	1	1	1	5	1	5	2	3	2	0	2	3	8	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr21:31797760C>T	ENST00000390690.2	-	1	526	c.471G>A	c.(469-471)tgG>tgA	p.W157*		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	157						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						ATGAATGGAACCACCTTCTAG	0.388													19	28					0	0	0	0	T	31797760	C	T	31797760	4	4	222	1	0	0	0	0	0	1	0	0	8576	508	18	4	51	4	KRTAP13-3	21	31797760	Nonsense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3459183	31797760	16332135	1008	40646											
AIRE	326	broad.mit.edu	37	chr21	45708269	45708269	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccagagagctgtggccAtgtcctccggggacgtcccg	6	7	14	14	3	0	1	0	0	0	1	4	3	4	2	5	3	1	1	5	3	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr21:45708269A>T	ENST00000291582.5	+	5	707	c.580A>T	c.(580-582)Atg>Ttg	p.M194L		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	194	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		AGCTGTGGCCATGTCCTCCGG	0.622									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				37	71					0	0	0	0	T	45708269	A	T	45708269	3	4	222	1	0	0	0	0	1	0	0	0	437	217	8	5	598	5	AIRE	21	45708269	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	13910509	45708269	2421626	1009	40647											
COL6A1	1291	broad.mit.edu	37	chr21	47421935	47421935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacagccagatgcaggagCacgtgagcctgcgcagcccc	9	3	13	16	2	0	2	0	1	0	1	0	3	0	3	5	1	6	3	5	1	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr21:47421935C>T	ENST00000361866.3	+	31	2131	c.2017C>T	c.(2017-2019)Cac>Tac	p.H673Y	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	673	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GATGCAGGAGCACGTGAGCCT	0.697													14	38					0	0	0	0	T	47421935	C	T	47421935	3	4	222	1	0	0	0	0	1	0	0	0	3729	710	25	4	2139	4	COL6A1	21	47421935	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1713666	47421935	707960	1010	40648											
PCNT	5116	broad.mit.edu	37	chr21	47851899	47851899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagagaaggaggtaagtGccacactgaagtcgacggtg	13	5	17	6	2	0	3	0	1	0	2	1	7	0	4	1	4	1	1	1	4	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr21:47851899G>T	ENST00000359568.5	+	38	8628	c.8521G>T	c.(8521-8523)Gcc>Tcc	p.A2841S	PCNT_ENST00000480896.1_Intron	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2841					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAGGTAAGTGCCACACTGAA	0.567													17	39					1.78486e-19	4.07224e-19	1	0	T	47851899	G	T	47851899	3	4	222	1	0	0	0	0	1	0	0	0	11661	1319	46	4	8671	4	PCNT	21	47851899	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	429964	47851899	277996	1011	40649											
POTEH	23784	broad.mit.edu	37	chr22	16279270	16279270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttgctgtttttgctcaTgtacaccaagtaacagtggt	9	14	8	10	0	1	0	1	0	0	0	1	0	1	0	2	1	4	5	2	1	3	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:16279270T>C	ENST00000343518.6	-	4	1004	c.953A>G	c.(952-954)cAt>cGt	p.H318R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	318										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTTTTGCTCATGTACACCAAG	0.328													28	418					0	0	0	0	C	16279270	T	C	16279270	3	2	222	1	0	0	0	0	1	0	0	0	12339	1464	51	5	712	5	POTEH	22	16279270	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08		16279270	35025296	1012	40650											
CCT8L2	150160	broad.mit.edu	37	chr22	17072618	17072618	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgcttttctagtaattgatCgcttcctttactaaattgag	9	19	6	7	1	1	2	0	2	1	0	3	2	2	2	1	0	2	3	1	0	5	11			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:17072618C>G	ENST00000359963.3	-	1	1082	c.823G>C	c.(823-825)Gat>Cat	p.D275H		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	275					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGTAATTGATCGCTTCCTTTA	0.527													49	141					0	0	0	0	G	17072618	C	G	17072618	3	3	222	1	0	0	0	0	1	0	0	0	2990	884	31	3	854	3	CCT8L2	22	17072618	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	793348	17072618	34231948	1013	40651											
CCT8L2	150160	broad.mit.edu	37	chr22	17073049	17073049	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgtaggcctcccggagcTgcgggcgaggcaggccagcc	5	4	18	14	4	0	0	0	0	0	0	1	2	1	1	4	6	3	3	4	6	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:17073049T>A	ENST00000359963.3	-	1	651	c.392A>T	c.(391-393)cAg>cTg	p.Q131L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	131					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTCCCGGAGCTGCGGGCGAGG	0.652													15	41					0	0	0	0	A	17073049	T	A	17073049	3	1	222	1	0	0	0	0	1	0	0	0	2990	1580	55	5	1285	5	CCT8L2	22	17073049	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	431	17073049	34231517	1014	40652											
TOP3B	8940	broad.mit.edu	37	chr22	22322027	22322027	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacatctgtgcgatctccCggtcaaacactcttactcgg	11	10	7	13	3	4	0	1	0	3	0	6	1	4	0	1	2	4	0	1	2	4	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:22322027C>G	ENST00000398793.2	-	8	1234	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TOP3B_ENST00000413067.2_5'UTR|TOP3B_ENST00000357179.5_Missense_Mutation_p.R267P	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	267					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TGCGATCTCCCGGTCAAACAC	0.483													33	65					0	0	0	0	G	22322027	C	G	22322027	3	3	222	1	0	0	0	0	1	0	0	0	16463	652	23	3	1832	3	TOP3B	22	22322027	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	5248978	22322027	28982539	1015	40653											
CABIN1	23523	broad.mit.edu	37	chr22	24480531	24480531	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgtctttttttcaaGgtggatcttatatgggagga	7	17	11	6	0	4	0	1	0	3	0	4	3	4	3	1	4	0	0	1	4	3	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:24480531G>T	ENST00000398319.2	+	21	3295		c.e21-1		CABIN1_ENST00000263119.5_Splice_Site|CABIN1_ENST00000405822.2_Splice_Site	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1						cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTTTTTTCAAGGTGGATCTTA	0.408													31	96					2.08457e-15	4.42999e-15	1	0	T	24480531	G	T	24480531	5	4	222	1	0	0	0	0	0	0	1	0	2553	1014	35	4	2988	4	CABIN1	22	24480531	Splice_Site	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2158504	24480531	26824035	1016	40654											
EWSR1	2130	broad.mit.edu	37	chr22	29684679	29684679	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaccaggagagaaccggaGcatgagtggccctgataacc	12	4	14	11	2	0	3	0	2	0	1	0	7	0	6	4	4	3	1	4	4	2	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:29684679G>C	ENST00000397938.2	+	8	1197	c.878G>C	c.(877-879)aGc>aCc	p.S293T	EWSR1_ENST00000406548.1_Missense_Mutation_p.S293T|EWSR1_ENST00000331029.7_Missense_Mutation_p.S293T|EWSR1_ENST00000332035.6_Missense_Mutation_p.S237T|EWSR1_ENST00000414183.2_Missense_Mutation_p.S299T|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000333395.6_Missense_Mutation_p.S293T	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGAACCGGAGCATGAGTGGC	0.592			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"								18	25					0	0	0	0	C	29684679	G	C	29684679	3	2	222	1	0	0	0	0	1	0	0	0	5333	971	34	4	930	4	EWSR1	22	29684679	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	5204148	29684679	21619887	1017	40655											
SFI1	9814	broad.mit.edu	37	chr22	31946321	31946321	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggaacaagtacattagAgccgaggttcatggtgagaa	15	8	13	5	1	1	3	1	2	0	2	1	6	1	4	1	3	3	2	1	3	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:31946321A>T	ENST00000432498.1	+	6	924	c.531A>T	c.(529-531)agA>agT	p.R177S	SFI1_ENST00000400289.1_Missense_Mutation_p.R95S|SFI1_ENST00000414585.1_Intron|SFI1_ENST00000400288.2_Missense_Mutation_p.R177S|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000540643.1_Missense_Mutation_p.R153S|SFI1_ENST00000443326.1_Missense_Mutation_p.R95S	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	177					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						AGTACATTAGAGCCGAGGTTC	0.448													18	32					0	0	0	0	T	31946321	A	T	31946321	3	4	222	1	0	0	0	0	1	0	0	0	14243	301	11	5	549	5	SFI1	22	31946321	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	2261642	31946321	19358245	1018	40656											
C22orf42	150297	broad.mit.edu	37	chr22	32555017	32555017	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcgggaggctgaggtaCtgcatgagttgggccttctt	5	13	15	8	1	2	2	0	2	2	0	3	3	2	3	1	4	2	4	1	4	1	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:32555017C>G	ENST00000382097.3	-	1	258	c.186G>C	c.(184-186)caG>caC	p.Q62H		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	62										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GGCTGAGGTACTGCATGAGTT	0.537													61	174					0	0	0	0	G	32555017	C	G	32555017	3	3	222	1	0	0	0	0	1	0	0	0	2169	564	20	4	605	4	C22orf42	22	32555017	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	608696	32555017	18749549	1019	40657											
SSTR3	6753	broad.mit.edu	37	chr22	37603377	37603377	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcgggccaccggagctgTgcgccagcgggccgagcggg	4	3	20	14	7	0	0	0	0	0	0	0	2	0	1	4	4	5	1	4	4	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:37603377T>A	ENST00000328544.3	-	2	999	c.466A>T	c.(466-468)Aca>Tca	p.T156S	SSTR3_ENST00000402501.1_Missense_Mutation_p.T156S	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	156					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						ACCGGAGCTGTGCGCCAGCGG	0.677													30	53					0	0	0	0	A	37603377	T	A	37603377	3	1	222	1	0	0	0	0	1	0	0	0	15289	1696	59	5	794	5	SSTR3	22	37603377	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	5048360	37603377	13701189	1020	40658											
APOBEC3B	9582	broad.mit.edu	37	chr22	39380220	39380220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaatctcctttgggacacagGggtctttcgaggccaggtac	9	10	12	10	1	2	0	0	0	2	0	4	2	2	1	2	5	1	1	2	5	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:39380220G>T	ENST00000402182.3	+	2	213	c.158G>T	c.(157-159)gGg>gTg	p.G53V	APOBEC3B_ENST00000333467.3_Missense_Mutation_p.G53V|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.G53V			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	53					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TGGGACACAGGGGTCTTTCGA	0.493													23	7					7.87624e-14	1.61071e-13	1	0	T	39380220	G	T	39380220	3	4	222	1	0	0	0	0	1	0	0	0	792	1232	43	4	164	4	APOBEC3B	22	39380220	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1776843	39380220	11924346	1021	40659											
CACNA1I	8911	broad.mit.edu	37	chr22	40042659	40042659	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacgggagcaccggctgaTgctggagcagcggcagcgct	8	4	17	12	4	0	1	0	1	0	0	0	3	0	3	1	4	6	7	1	4	1	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:40042659T>C	ENST00000336649.4	+	10	1235	c.1235T>C	c.(1234-1236)aTg>aCg	p.M412T	CACNA1I_ENST00000400164.3_Missense_Mutation_p.M412T|CACNA1I_ENST00000402142.3_Missense_Mutation_p.M412T|CACNA1I_ENST00000404898.1_Missense_Mutation_p.M412T|CACNA1I_ENST00000401624.1_Missense_Mutation_p.M412T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.M412T			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	412					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CACCGGCTGATGCTGGAGCAG	0.607													5	7					0	0	0	0	C	40042659	T	C	40042659	3	2	222	1	0	0	0	0	1	0	0	0	2571	1464	51	5	1265	5	CACNA1I	22	40042659	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	662439	40042659	11261907	1022	40660											
FAM83F	113828	broad.mit.edu	37	chr22	40417675	40417675	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcaggtgctgcccccCgtggagcccatccccttggg	4	7	15	15	1	0	0	0	0	0	0	1	2	1	2	6	4	4	2	6	4	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:40417675C>T	ENST00000333407.5	+	4	1255	c.1161C>T	c.(1159-1161)ccC>ccT	p.P387P	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	387										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TGCTGCCCCCCGTGGAGCCCA	0.662													13	48					0	0	0	0	T	40417675	C	T	40417675	2	4	222	1	0	0	0	0	0	0	0	1	5684	639	23	1		1	FAM83F	22	40417675	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	375016	40417675	10886891	1023	40661											
ACO2	50	broad.mit.edu	37	chr22	41918884	41918884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaagatatggggcgctcaGcagctgtggccaagcaggca	11	6	15	9	1	1	2	1	1	0	1	1	2	1	2	1	4	3	5	1	4	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:41918884G>T	ENST00000396512.3	+	10	1281	c.1264G>T	c.(1264-1266)Gca>Tca	p.A422S	ACO2_ENST00000216254.4_Missense_Mutation_p.A397S			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	397					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GGGGCGCTCAGCAGCTGTGGC	0.572													22	49					5.26018e-13	1.0515e-12	1	0	T	41918884	G	T	41918884	3	4	222	1	0	0	0	0	1	0	0	0	147	971	34	4	1227	4	ACO2	22	41918884	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1501209	41918884	9385682	1024	40662											
PRR5	55615	broad.mit.edu	37	chr22	45132772	45132772	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcacgaggcggagggcgCggcggccggcggtaccagca	7	1	21	12	7	0	0	0	0	0	0	0	3	0	2	2	8	3	3	2	8	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:45132772C>A	ENST00000403581.1	+	10	1490	c.881C>A	c.(880-882)gCg>gAg	p.A294E	PRR5_ENST00000336985.6_Missense_Mutation_p.A271E|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Intron	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GCGGAGGGCGCGGCGGCCGGC	0.711													13	39					1.5842e-08	2.88077e-08	1	0	A	45132772	C	A	45132772	3	1	222	1	0	0	0	0	1	0	0	0	12679	768	27	3	842	3	PRR5	22	45132772	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3213888	45132772	6171794	1025	40663											
GTSE1	51512	broad.mit.edu	37	chr22	46704670	46704670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctctggtgcccaggccCgcctcacccgggcgccgggg	3	4	15	19	4	2	0	1	0	1	0	2	0	2	0	6	5	2	1	6	5	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:46704670C>A	ENST00000454366.1	+	4	804	c.592C>A	c.(592-594)Cgc>Agc	p.R198S		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	179					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TGCCCAGGCCCGCCTCACCCG	0.677													45	87					6.4771e-29	1.57531e-28	1	0	A	46704670	C	A	46704670	3	1	222	1	0	0	0	0	1	0	0	0	6935	652	23	3	602	3	GTSE1	22	46704670	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	1571898	46704670	4599896	1026	40664											
CRELD2	79174	broad.mit.edu	37	chr22	50315316	50315316	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagggcgacgggtcctgcCggtgccacatggggtaccag	7	5	17	12	3	0	0	0	0	0	0	1	2	1	0	4	5	3	1	4	5	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:50315316C>A	ENST00000404488.3	+	5	634	c.499C>A	c.(499-501)Cgg>Agg	p.R167R	CRELD2_ENST00000328268.4_Silent_p.R167R|CRELD2_ENST00000403427.3_Silent_p.R167R|CRELD2_ENST00000407217.3_Silent_p.R167R|CRELD2_ENST00000444954.1_3'UTR	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	167	EGF-like 1.					endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CGGGTCCTGCCGGTGCCACAT	0.647													29	102					1.75199e-13	3.54573e-13	1	0	A	50315316	C	A	50315316	2	1	222	1	0	0	0	0	0	0	0	1	3897	643	23	3		3	CRELD2	22	50315316	Silent	SNP	C	TCGA-CR-7402-01A-11D-2012-08	3610646	50315316	989250	1027	40665											
SHOX	6473	broad.mit.edu	37	chrX	601734	601734	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgctccctttggacacagGcgtcatcttgggcacagcca	7	9	10	15	1	2	0	1	0	1	0	3	1	3	1	3	3	2	2	3	3	0	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:601734G>T	ENST00000381578.1	+	5	1236	c.544_splice	c.e5-1	p.G182_splice	SHOX_ENST00000381575.1_Splice_Site_p.G182_splice|SHOX_ENST00000334060.3_Splice_Site_p.G182_splice|SHOX_ENST00000554971.1_Splice_Site_p.G182_splice	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	182					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGGACACAGGCGTCATCTTG	0.602													18	49					8.28177e-16	1.78131e-15	1	0	T	601734	G	T	601734	5	4	222	1	0	0	0	0	0	0	1	0	14376	1217	42	4	559	4	SHOX	23	601734	Splice_Site	SNP	G	TCGA-CR-7402-01A-11D-2012-08		601734	154668826	1028	40666											
CRLF2	64109	broad.mit.edu	37	chrX	1317518	1317518	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccttcaccctgacccagaAagagtaacacttctcggcat	12	8	7	14	1	2	3	1	1	1	2	3	3	2	3	3	1	2	2	3	1	2	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:1317518A>G	ENST00000381567.3	-	5	546	c.547T>C	c.(547-549)Ttc>Ctc	p.F183L	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	183	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTGACCCAGAAAGAGTAACAC	0.507			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								26	54					0	0	0	0	G	1317518	A	G	1317518	3	3	222	1	0	0	0	0	1	0	0	0	3917	14	1	5	234	5	CRLF2	23	1317518	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	715784	1317518	153953042	1029	40667											
TLR7	51284	broad.mit.edu	37	chrX	12906382	12906382	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtggccaaactggaagacCcaagagagaaacattttaat	16	8	10	7	0	0	3	0	0	0	3	0	5	0	4	2	3	2	0	2	3	5	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:12906382C>G	ENST00000380659.3	+	3	2894	c.2755C>G	c.(2755-2757)Cca>Gca	p.P919A		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	919	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ACTGGAAGACCCAAGAGAGAA	0.458													56	47					0	0	0	0	G	12906382	C	G	12906382	3	3	222	1	0	0	0	0	1	0	0	0	16050	623	22	4	2761	4	TLR7	23	12906382	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	11588864	12906382	142364178	1030	40668											
SMS	6611	broad.mit.edu	37	chrX	22010722	22010722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgatttaggggaactGtgtcaatctgacagaagcac	11	12	10	8	0	3	3	1	2	2	1	3	4	3	4	0	2	2	1	0	2	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:22010722G>A	ENST00000404933.2	+	10	1205	c.953G>A	c.(952-954)tGt>tAt	p.C318Y	SMS_ENST00000379404.1_Missense_Mutation_p.C265Y|SMS_ENST00000415881.2_Missense_Mutation_p.C222Y	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	318					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TAGGGGAACTGTGTCAATCTG	0.453													4	7					0	0	0	0	A	22010722	G	A	22010722	3	1	222	1	0	0	0	0	1	0	0	0	14901	1377	48	4	991	4	SMS	23	22010722	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	9104340	22010722	133259838	1031	40669											
MAGEB10	139422	broad.mit.edu	37	chrX	27839501	27839501	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagggctggaagatttgatAgatgctctggacattttaga	11	12	14	4	0	1	4	0	1	1	3	1	7	1	7	0	4	1	2	0	4	3	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:27839501A>T	ENST00000356790.2	+	3	323	c.78A>T	c.(76-78)atA>atT	p.I26I		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	26										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AAGATTTGATAGATGCTCTGG	0.512													18	20					0	0	0	0	T	27839501	A	T	27839501	2	4	222	1	0	0	0	0	0	0	0	1	9242	410	15	5		5	MAGEB10	23	27839501	Silent	SNP	A	TCGA-CR-7402-01A-11D-2012-08	5828779	27839501	127431059	1032	40670											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29973704	29973704	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacgtaccattcacaaatgCgtcagaaacactactaccga	16	7	5	13	3	2	1	2	0	0	1	2	2	2	1	2	0	5	1	2	0	5	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:29973704C>G	ENST00000378993.1	+	11	2531	c.1858C>G	c.(1858-1860)Cgt>Ggt	p.R620G	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R620G	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	620	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.R620S(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTCACAAATGCGTCAGAAACA	0.532													7	10					0	0	0	0	G	29973704	C	G	29973704	3	3	222	1	0	0	0	0	1	0	0	0	7714	768	27	3	1896	3	IL1RAPL1	23	29973704	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	2134203	29973704	125296856	1033	40671											
NR0B1	190	broad.mit.edu	37	chrX	30326348	30326348	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtccccttgaggtaggcgTactccttggtactgatgttc	5	13	12	11	2	0	2	0	2	0	0	3	2	2	2	3	4	2	4	3	4	3	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:30326348T>G	ENST00000378970.4	-	1	1367	c.1133A>C	c.(1132-1134)tAc>tCc	p.Y378S	NR0B1_ENST00000453287.1_Missense_Mutation_p.Y378S|NR0B1_ENST00000378963.1_Missense_Mutation_p.Y83S	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	378	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GAGGTAGGCGTACTCCTTGGT	0.587											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	22					0	0	0	0	G	30326348	T	G	30326348	3	3	222	1	0	0	0	0	1	0	0	0	10684	1638	57	5	287	5	NR0B1	23	30326348	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	352644	30326348	124944212	1034	40672											
DMD	1756	broad.mit.edu	37	chrX	31198490	31198490	+	Frame_Shift_Del	DEL	A	A	-																															gctggcgtcaaacttaccggAgtgcaatattccaccatggg																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:31198490delA	ENST00000357033.4	-	69	10289	c.10083delT	c.(10081-10083)acfs	p.T3361fs	DMD_ENST00000359836.1_Frame_Shift_Del_p.T901fs|DMD_ENST00000361471.4_Frame_Shift_Del_p.T293fs|DMD_ENST00000474231.1_Frame_Shift_Del_p.T901fs|DMD_ENST00000343523.2_Frame_Shift_Del_p.T901fs|DMD_ENST00000378680.2_Frame_Shift_Del_p.T293fs|DMD_ENST00000378702.4_Frame_Shift_Del_p.T293fs|DMD_ENST00000541735.1_Frame_Shift_Del_p.T901fs|DMD_ENST00000378707.3_Frame_Shift_Del_p.T901fs|DMD_ENST00000378723.3_Frame_Shift_Del_p.T293fs|DMD_ENST00000378677.2_Frame_Shift_Del_p.T3357fs	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3361	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACTTACCGGAGTGCAATATT	0.408													9	12	---	---	---	---					-	31198490	A	-	31198490	7	5	222	1	0	1	0	1	0	0	0	0	4617	291	11	0	1108	0	DMD	23	31198490	Frame_Shift_Del	DEL	A	TCGA-CR-7402-01A-11D-2012-08	872142	31198490	124072070	1035	40673											
PPP1R3F	89801	broad.mit.edu	37	chrX	49142667	49142667	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacgggctgctgtggctgcGggtggggcagggggtggtgg	2	8	24	7	2	0	0	0	0	0	0	0	0	0	0	0	9	3	4	0	9	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:49142667G>A	ENST00000055335.6	+	4	1531	c.1515G>A	c.(1513-1515)gcG>gcA	p.A505A	PPP1R3F_ENST00000466508.1_Silent_p.A159A|PPP1R3F_ENST00000438316.1_Silent_p.A176A|PPP1R3F_ENST00000376188.1_Silent_p.A159A|PPP1R3F_ENST00000495799.1_Silent_p.A159A	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	505						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTGTGGCTGCGGGTGGGGCAG	0.657													8	2					0	0	0	0	A	49142667	G	A	49142667	2	1	222	1	0	0	0	0	0	0	0	1	12451	1103	39	1		1	PPP1R3F	23	49142667	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	17944177	49142667	106127893	1036	40674											
CCNB3	85417	broad.mit.edu	37	chrX	50052855	50052855	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggtgaagataagaattcTttctttatggagccaatgtc	12	15	9	5	0	2	3	0	1	2	2	3	4	2	4	1	2	1	0	1	2	5	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:50052855T>A	ENST00000376042.1	+	6	1984	c.1686T>A	c.(1684-1686)tcT>tcA	p.S562S	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.S562S			Q8WWL7	CCNB3_HUMAN	cyclin B3	562					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATAAGAATTCTTTCTTTATGG	0.373													10	10					0	0	0	0	A	50052855	T	A	50052855	2	1	222	1	0	0	0	0	0	0	0	1	2943	1596	56	5		5	CCNB3	23	50052855	Silent	SNP	T	TCGA-CR-7402-01A-11D-2012-08	910188	50052855	105217705	1037	40675											
CCNB3	85417	broad.mit.edu	37	chrX	50053222	50053222	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgttaagcataccaacAaaagtgggtccctcttccag	12	10	8	11	0	1	0	0	0	1	0	3	0	3	0	3	1	4	3	3	1	5	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:50053222A>C	ENST00000376042.1	+	6	2351	c.2053A>C	c.(2053-2055)Aaa>Caa	p.K685Q	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.K685Q			Q8WWL7	CCNB3_HUMAN	cyclin B3	685					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GCATACCAACAAAAGTGGGTC	0.463													10	10					0	0	0	0	C	50053222	A	C	50053222	3	2	222	1	0	0	0	0	1	0	0	0	2943	131	5	5	2067	5	CCNB3	23	50053222	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	367	50053222	105217338	1038	40676											
TRO	7216	broad.mit.edu	37	chrX	54949662	54949662	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caactgccacccatacagctAccacccaaggccaaattacc	14	5	4	18	0	0	0	0	0	0	0	0	0	0	0	6	1	6	1	6	1	6	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:54949662A>G	ENST00000173898.7	+	3	809	c.697A>G	c.(697-699)Acc>Gcc	p.T233A	TRO_ENST00000484031.1_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.T233A|TRO_ENST00000375022.4_Missense_Mutation_p.T233A|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000375041.2_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	233					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCATACAGCTACCACCCAAGG	0.512													23	11					0	0	0	0	G	54949662	A	G	54949662	3	3	222	1	0	0	0	0	1	0	0	0	16669	391	14	5	703	5	TRO	23	54949662	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	4896440	54949662	100320898	1039	40677											
EDA2R	60401	broad.mit.edu	37	chrX	65835806	65835806	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgtccaggaccacaccgTtggcaggtgacacaccgtcc	8	7	10	16	2	0	1	0	1	0	0	3	2	3	2	6	3	0	2	6	3	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:65835806T>G	ENST00000374719.3	-	2	113	c.57A>C	c.(55-57)caA>caC	p.Q19H	EDA2R_ENST00000456230.2_Missense_Mutation_p.Q19H|EDA2R_ENST00000450752.1_Missense_Mutation_p.Q19H|EDA2R_ENST00000253392.5_Missense_Mutation_p.Q19H|EDA2R_ENST00000396050.1_Missense_Mutation_p.Q19H|EDA2R_ENST00000451436.2_Missense_Mutation_p.N14T	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	19					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GACCACACCGTTGGCAGGTGA	0.502													8	4					0	0	0	0	G	65835806	T	G	65835806	3	3	222	1	0	0	0	0	1	0	0	0	4940	1722	60	5	856	5	EDA2R	23	65835806	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	10886144	65835806	89434754	1040	40678											
ZMYM3	9203	broad.mit.edu	37	chrX	70469326	70469327	+	Frame_Shift_Ins	INS	-	-	T																															ccaccttcttgtacgcccccINSaagcaggttgtgttgcagaa																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:70469326_70469327insT	ENST00000373998.1	-	7	2151_2152	c.1454_1455insA	c.(1453-1455)tggfs	p.W485fs	ZMYM3_ENST00000373981.1_Frame_Shift_Ins_p.W485fs|ZMYM3_ENST00000373988.1_Frame_Shift_Ins_p.W487fs|ZMYM3_ENST00000314425.5_Frame_Shift_Ins_p.W485fs|ZMYM3_ENST00000373982.1_Frame_Shift_Ins_p.W487fs|ZMYM3_ENST00000373978.1_3'UTR|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Frame_Shift_Ins_p.W487fs|ZMYM3_ENST00000353904.2_Frame_Shift_Ins_p.W485fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	485					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGTACGCCCCCAAGCAGGTTGT	0.564													6	7	---	---	---	---					T	70469327	-	T	70469326	7	5	222	1	0	1	1	0	0	0	0	0	17796	593	21	0	2751	0	ZMYM3	23	70469326	Frame_Shift_Ins	INS	-	TCGA-CR-7402-01A-11D-2012-08	4633520	70469326	84801234	1041	40679											
TBX22	50945	broad.mit.edu	37	chrX	79286337	79286337	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcatctgaagactccagTgatcagtatctacaagcacc	12	10	8	11	0	4	3	2	2	2	1	5	3	5	3	2	1	2	3	2	1	4	3	rs144871606	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:79286337T>G	ENST00000442340.1	+	9	1420	c.930T>G	c.(928-930)agT>agG	p.S310R	TBX22_ENST00000373291.1_Missense_Mutation_p.S310R|TBX22_ENST00000373296.3_Missense_Mutation_p.S430R|TBX22_ENST00000373294.5_Missense_Mutation_p.S430R	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	430					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAGACTCCAGTGATCAGTATC	0.433													41	36					0	0	0	0	G	79286337	T	G	79286337	3	3	222	1	0	0	0	0	1	0	0	0	15752	1693	59	5	1320	5	TBX22	23	79286337	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	8817011	79286337	75984223	1042	40680											
ESX1	80712	broad.mit.edu	37	chrX	103495025	103495025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggcgccatgggcggccCgggtggcagaggcgccatgg	6	3	20	12	4	0	2	0	0	0	2	0	2	0	2	3	7	0	1	3	7	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:103495025C>A	ENST00000372588.4	-	4	1188	c.1105G>T	c.(1105-1107)Ggg>Tgg	p.G369W		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	369	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						ATGGGCGGCCCGGGTGGCAGA	0.701													11	11					0.000673444	0.00107806	1	0	A	103495025	C	A	103495025	3	1	222	1	0	0	0	0	1	0	0	0	5301	652	23	3	119	3	ESX1	23	103495025	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	24208688	103495025	51775535	1043	40681											
TRPC5	7224	broad.mit.edu	37	chrX	111078301	111078301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacatatagatttaaaaGgccaaatacagaccagaaga	19	7	9	6	0	0	5	0	1	0	4	0	5	0	5	2	2	1	0	2	2	7	5			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:111078301G>T	ENST00000262839.2	-	7	2662	c.1744C>A	c.(1744-1746)Ctt>Att	p.L582I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	582					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGATTTAAAAGGCCAAATACA	0.398													110	65					1.93806e-58	4.87762e-58	1	0	T	111078301	G	T	111078301	3	4	222	1	0	0	0	0	1	0	0	0	16677	1000	35	4	1197	4	TRPC5	23	111078301	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	7583276	111078301	44192259	1044	40682											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686094	125686094	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttggggttttcgccgccGgtggccagaagcgtcttgga	4	11	16	10	4	1	1	0	0	1	1	2	2	1	2	3	5	1	2	3	5	1	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:125686094G>T	ENST00000371126.1	-	1	740	c.498C>A	c.(496-498)acC>acA	p.T166T		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	166										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTTCGCCGCCGGTGGCCAGAA	0.657													22	7					3.62473e-10	6.86625e-10	1	0	T	125686094	G	T	125686094	2	4	222	1	0	0	0	0	0	0	0	1	4297	1103	39	3		3	DCAF12L1	23	125686094	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	14607793	125686094	29584466	1045	40683											
GPR101	83550	broad.mit.edu	37	chrX	136112422	136112422	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttttccttgcagaagaacTtcttcagcatgtcctggatt	8	15	8	10	0	2	2	1	0	1	2	4	3	4	3	2	1	3	3	2	1	2	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:136112422T>A	ENST00000298110.1	-	1	1411	c.1412A>T	c.(1411-1413)aAg>aTg	p.K471M		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	471						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GCAGAAGAACTTCTTCAGCAT	0.493													39	20					0	0	0	0	A	136112422	T	A	136112422	3	1	222	1	0	0	0	0	1	0	0	0	6671	1609	56	5	117	5	GPR101	23	136112422	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	10426328	136112422	19158138	1046	40684											
F9	2158	broad.mit.edu	37	chrX	138642993	138642993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccactgtgttgaaactggtGttaaaattacagttgtcgca	11	13	9	8	1	0	1	0	1	0	0	1	1	0	1	1	1	2	4	1	1	4	4			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:138642993G>A	ENST00000218099.2	+	7	824	c.817G>A	c.(817-819)Gtt>Att	p.V273I	F9_ENST00000394090.2_Missense_Mutation_p.V235I	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	273	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGAAACTGGTGTTAAAATTAC	0.368													7	42					0	0	0	0	A	138642993	G	A	138642993	3	1	222	1	0	0	0	0	1	0	0	0	5392	1377	48	4	843	4	F9	23	138642993	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2530571	138642993	16627567	1047	40685											
SPANXD	64648	broad.mit.edu	37	chrX	140785676	140785676	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattcctcctcctccatttgGagggggttgattctgttctt	5	17	9	10	0	2	1	0	1	2	0	6	2	6	2	4	3	0	2	4	3	1	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:140785676G>T	ENST00000370515.3	-	2	573	c.240C>A	c.(238-240)ctC>ctA	p.L80L		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CCTCCATTTGGAGGGGGTTGA	0.443													105	132					1.62402e-62	4.09254e-62	1	0	T	140785676	G	T	140785676	2	4	222	1	0	0	0	0	0	0	0	1	15078	1161	41	2		2	SPANXD	23	140785676	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	2142683	140785676	14484884	1048	40686											
MAGEC2	51438	broad.mit.edu	37	chrX	141291747	141291747	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagtcgttgtcaacgttgcgGaatggaacgcctggaacggg	9	8	16	8	5	1	0	1	0	0	0	2	4	1	3	1	4	4	2	1	4	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:141291747G>A	ENST00000247452.3	-	3	374	c.27C>T	c.(25-27)ttC>ttT	p.F9F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	9						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CAACGTTGCGGAATGGAACGC	0.537										HNSCC(46;0.14)			49	32					0	0	0	0	A	141291747	G	A	141291747	2	1	222	1	0	0	0	0	0	0	0	1	9250	1165	41	2		2	MAGEC2	23	141291747	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	506071	141291747	13978813	1049	40687											
IDS	3423	broad.mit.edu	37	chrX	148564745	148564745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccacaaggtccatggattgCctgcctgaaacaggaagcga	12	7	11	11	1	0	1	0	1	0	0	2	4	2	3	4	3	4	0	4	3	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:148564745C>A	ENST00000340855.6	-	9	1394	c.1185G>T	c.(1183-1185)agG>agT	p.R395S	IDS_ENST00000541269.1_Missense_Mutation_p.R184S|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000537071.1_5'UTR	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	395						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCATGGATTGCCTGCCTGAAA	0.532													11	9					4.68919e-08	8.41727e-08	1	0	A	148564745	C	A	148564745	3	1	222	1	0	0	0	0	1	0	0	0	7556	738	26	4	471	4	IDS	23	148564745	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	7272998	148564745	6705815	1050	40688											
PASD1	139135	broad.mit.edu	37	chrX	150840977	150840977	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagggtgcagatatgccTgcaaaacccacgtgacgtat	12	8	12	9	2	0	3	0	2	0	2	0	4	0	3	2	1	4	3	2	1	4	2			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:150840977T>A	ENST00000370357.4	+	14	2005	c.1760T>A	c.(1759-1761)cTg>cAg	p.L587Q		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	587						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATATGCCTGCAAAACCCA	0.522													30	16					0	0	0	0	A	150840977	T	A	150840977	3	1	222	1	0	0	0	0	1	0	0	0	11542	1580	55	5	1810	5	PASD1	23	150840977	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	2276232	150840977	4429583	1051	40689											
MAGEA4	4103	broad.mit.edu	37	chrX	151092986	151092986	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggctctggctgaaaccagcTatgtgaaagtcctggagcat	10	9	13	9	0	1	2	0	2	1	0	2	3	2	3	2	3	3	4	2	3	3	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:151092986T>A	ENST00000370340.3	+	3	1117	c.850T>A	c.(850-852)Tat>Aat	p.Y284N	MAGEA4_ENST00000393920.1_Missense_Mutation_p.Y284N|MAGEA4_ENST00000393921.1_Missense_Mutation_p.Y284N|MAGEA4_ENST00000360243.2_Missense_Mutation_p.Y284N|MAGEA4_ENST00000370335.1_Missense_Mutation_p.Y284N|MAGEA4_ENST00000276344.2_Missense_Mutation_p.Y284N|MAGEA4_ENST00000370337.4_Missense_Mutation_p.Y284N			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	284	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAACCAGCTATGTGAAAGT	0.552													85	59					0	0	0	0	A	151092986	T	A	151092986	3	1	222	1	0	0	0	0	1	0	0	0	9235	1522	53	5	852	5	MAGEA4	23	151092986	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	252009	151092986	4177574	1052	40690											
DUSP9	1852	broad.mit.edu	37	chrX	152915660	152915660	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggagcgccactcgcAggagcagggcagtggggggc	7	3	21	10	2	0	0	0	0	0	0	1	3	0	3	1	7	2	4	1	7	0	0			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:152915660A>C	ENST00000342782.3	+	4	1320	c.1055A>C	c.(1054-1056)cAg>cCg	p.Q352P	DUSP9_ENST00000370167.4_Missense_Mutation_p.Q352P			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	352	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCCACTCGCAGGAGCAGGGC	0.632													40	36					0	0	0	0	C	152915660	A	C	152915660	3	2	222	1	0	0	0	0	1	0	0	0	4868	188	7	5	1065	5	DUSP9	23	152915660	Missense_Mutation	SNP	A	TCGA-CR-7402-01A-11D-2012-08	1822674	152915660	2354900	1053	40691											
L1CAM	3897	broad.mit.edu	37	chrX	153132315	153132315	+	Frame_Shift_Del	DEL	C	C	-																															tggggggcgttccagtccatCcaccggagcggctggaggag																										TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:153132315delC	ENST00000370060.1	-	19	2409	c.2220delG	c.(2218-2220)tgfs	p.W740fs	L1CAM_ENST00000361981.3_Frame_Shift_Del_p.W735fs|L1CAM_ENST00000370057.3_Frame_Shift_Del_p.W740fs|L1CAM_ENST00000370055.1_Frame_Shift_Del_p.W735fs|L1CAM_ENST00000361699.4_Frame_Shift_Del_p.W740fs|L1CAM_ENST00000543994.1_Frame_Shift_Del_p.W742fs|L1CAM_ENST00000538883.1_Frame_Shift_Del_p.W742fs	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	740	Fibronectin type-III 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGTCCATCCACCGGAGCG	0.652													25	17	---	---	---	---					-	153132315	C	-	153132315	7	5	222	1	0	1	0	1	0	0	0	0	8641	856	30	0	1597	0	L1CAM	23	153132315	Frame_Shift_Del	DEL	C	TCGA-CR-7402-01A-11D-2012-08	216655	153132315	2138245	1054	40692											
PCDH11Y	83259	broad.mit.edu	37	chrY	4924812	4924812	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taattaacagagtgtcaattAtgctaacatctcatttactg	14	15	5	7	0	2	1	2	0	1	1	3	1	2	1	0	0	4	1	0	0	6	6			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrY:4924812A>T	ENST00000362095.5	+	0	682				PCDH11Y_ENST00000333703.4_Intron	NM_032972.2	NP_116754.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTGTCAATTATGCTAACATC	0.269													15	11					0	0	0	0	T	4924812	A	T	4924812	1	4	222	1	0	0	0	0	0	0	0	0	11580	464	16	5		5	PCDH11Y	24	4924812	Translation_Start_Site	SNP	A	TCGA-CR-7402-01A-11D-2012-08		4924812	54448754	1055	40693											
TSPY2	64591	broad.mit.edu	37	chrY	6114391	6114391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtgggtcgggcagcacagGccttggtgtgtgcgagtgcc	4	8	19	10	3	0	0	0	0	0	0	1	1	0	0	2	4	3	2	2	4	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrY:6114391G>T	ENST00000320701.4	+	1	128	c.82G>T	c.(82-84)Gcc>Tcc	p.A28S	TSPY2_ENST00000383042.1_Missense_Mutation_p.A28S	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	28					cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus				liver(1)|lung(4)|prostate(1)|skin(1)	7						GGCAGCACAGGCCTTGGTGTG	0.711													15	9					2.48551e-13	4.99402e-13	1	0	T	6114391	G	T	6114391	3	4	222	1	0	0	0	0	1	0	0	0	16753	1203	42	4	84	4	TSPY2	24	6114391	Missense_Mutation	SNP	G	TCGA-CR-7402-01A-11D-2012-08	1189579	6114391	53259175	1056	40694											
AMELY	266	broad.mit.edu	37	chrY	6736363	6736363	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcatcagtgcttgctggcgGaccctgggctgctgagctgg	4	9	17	11	1	1	1	1	1	0	0	1	2	1	2	1	5	4	6	1	5	0	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrY:6736363G>T	ENST00000215479.5	-	5	355	c.288C>A	c.(286-288)gtC>gtA	p.V96V	AMELY_ENST00000383037.4_Silent_p.V110V|AMELY_ENST00000383036.1_Silent_p.V110V	NM_001143.1	NP_001134.1	Q99218	AMELY_HUMAN	amelogenin, Y-linked	110	Gln-rich.				biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel			NS(1)|lung(5)	6						CTTGCTGGCGGACCCTGGGCT	0.612													32	25					1.22384e-17	2.70379e-17	1	0	T	6736363	G	T	6736363	2	4	222	1	0	0	0	0	0	0	0	1	570	1161	41	2		2	AMELY	24	6736363	Silent	SNP	G	TCGA-CR-7402-01A-11D-2012-08	621972	6736363	52637203	1057	40695											
TBL1Y	90665	broad.mit.edu	37	chrY	6958154	6958154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtctcgtccacagctacCaaggcactggcggtatcttc	9	9	10	13	2	2	0	0	0	2	0	5	1	3	0	2	3	2	3	2	3	4	3			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrY:6958154C>A	ENST00000383032.1	+	18	2118	c.1471C>A	c.(1471-1473)Caa>Aaa	p.Q491K	TBL1Y_ENST00000346432.3_Missense_Mutation_p.Q491K|TBL1Y_ENST00000355162.2_Missense_Mutation_p.Q491K	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	491					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						CCACAGCTACCAAGGCACTGG	0.532													11	11					7.03913e-09	1.29205e-08	1	0	A	6958154	C	A	6958154	3	1	222	1	0	0	0	0	1	0	0	0	15735	595	21	4	1521	4	TBL1Y	24	6958154	Missense_Mutation	SNP	C	TCGA-CR-7402-01A-11D-2012-08	221791	6958154	52415412	1058	40696											
KDM5D	8284	broad.mit.edu	37	chrY	21869833	21869833	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttaccacagagcctgggTctctgaggtcctgtgcagac	7	10	11	13	0	1	3	0	1	1	2	4	3	3	3	4	2	3	1	4	2	1	1			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrY:21869833T>A	ENST00000541639.1	-	24	3766	c.3479A>T	c.(3478-3480)gAc>gTc	p.D1160V	KDM5D_ENST00000317961.4_Missense_Mutation_p.D1129V|KDM5D_ENST00000382806.2_Missense_Mutation_p.D1072V	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1129					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	AGAGCCTGGGTCTCTGAGGTC	0.577													12	11					0	0	0	0	A	21869833	T	A	21869833	3	1	222	1	0	0	0	0	1	0	0	0	8188	1667	58	5	1253	5	KDM5D	24	21869833	Missense_Mutation	SNP	T	TCGA-CR-7402-01A-11D-2012-08	14911679	21869833	37503733	1059	40697											
EIF4G3	8672	broad.mit.edu	37	chr1	21268030	21268030	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttttgagaatccaaaatCtcttctgtttgcccatctgc	10	15	6	10	0	3	1	0	1	3	1	5	2	4	1	2	0	2	2	2	0	4	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:21268030C>T	ENST00000602326.1	-	12	2050	c.1467G>A	c.(1465-1467)gaG>gaA	p.E489E	EIF4G3_ENST00000544689.1_5'UTR|EIF4G3_ENST00000536266.1_Silent_p.E87E|EIF4G3_ENST00000400422.1_Silent_p.E483E|EIF4G3_ENST00000374927.4_Silent_p.E483E|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Silent_p.E489E|EIF4G3_ENST00000356916.3_Silent_p.E494E|EIF4G3_ENST00000264211.8_Silent_p.E483E	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	483					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AATCCAAAATCTCTTCTGTTT	0.433													30	170					0	0	0	0	T	21268030	C	T	21268030	2	4	223	1	0	0	0	0	0	0	0	1	5076	912	32	2		2	EIF4G3	1	21268030	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08		21268030	227982591	1	40698											
ZBTB8A	653121	broad.mit.edu	37	chr1	33065908	33065908	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcacttgagtgaagatgAgaatagatcctatgtggaga	14	10	13	4	0	0	6	0	3	0	4	1	8	1	6	1	2	0	1	1	2	4	3	rs147884621	byFrequency	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:33065908A>C	ENST00000373510.4	+	5	1443	c.1214A>C	c.(1213-1215)gAg>gCg	p.E405A	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_3'UTR|ZBTB8OS_ENST00000341885.5_Silent_p.S59S	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						AGTGAAGATGAGAATAGATCC	0.428													5	44					0	0	0	0	C	33065908	A	C	33065908	3	2	223	1	0	0	0	0	1	0	0	0	17651	304	11	5	1224	5	ZBTB8A	1	33065908	Missense_Mutation	SNP	A	TCGA-CR-7404-01A-11D-2129-08	11797878	33065908	216184713	2	40699											
CYP4B1	1580	broad.mit.edu	37	chr1	47282750	47282750	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaatgacttatctgacCatgtgcatcaaggagagctt	13	10	10	8	0	2	3	1	2	1	1	2	4	2	3	1	2	2	3	1	2	4	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:47282750C>G	ENST00000271153.4	+	9	1137	c.1101C>G	c.(1099-1101)acC>acG	p.T367T	CYP4B1_ENST00000371919.4_Silent_p.T353T|CYP4B1_ENST00000452782.2_Silent_p.T205T|CYP4B1_ENST00000371923.4_Silent_p.T368T			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	367					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CTTATCTGACCATGTGCATCA	0.547													22	97					0	0	0	0	G	47282750	C	G	47282750	2	3	223	1	0	0	0	0	0	0	0	1	4217	581	21	4		4	CYP4B1	1	47282750	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08	14216842	47282750	201967871	3	40700											
HFM1	164045	broad.mit.edu	37	chr1	91817197	91817197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgcagtagctgtagtgtCaaactggggagaaaacaaac	16	7	11	7	0	1	1	1	0	0	1	1	2	1	1	0	2	6	4	0	2	7	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:91817197C>T	ENST00000370425.3	-	17	2079	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N	HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.D340N	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	661	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCTGTAGTGTCAAACTGGGGA	0.378													16	65					0	0	0	0	T	91817197	C	T	91817197	3	4	223	1	0	0	0	0	1	0	0	0	7133	826	29	2	2418	2	HFM1	1	91817197	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	44534447	91817197	157433424	4	40701											
OLFM3	118427	broad.mit.edu	37	chr1	102290711	102290711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agacagattccttatttcctCcttgaactgggtgattaact	10	15	7	9	0	0	4	0	2	0	2	3	4	3	4	3	1	2	0	3	1	3	5			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:102290711C>G	ENST00000370103.4	-	4	676	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	OLFM3_ENST00000359814.3_Missense_Mutation_p.E175Q|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.E175Q|OLFM3_ENST00000536598.1_Missense_Mutation_p.E80Q	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	175						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CTTATTTCCTCCTTGAACTGG	0.458													7	26					0	0	0	0	G	102290711	C	G	102290711	3	3	223	1	0	0	0	0	1	0	0	0	10925	864	30	2	925	2	OLFM3	1	102290711	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	10473514	102290711	146959910	5	40702											
FLG	2312	broad.mit.edu	37	chr1	152279707	152279707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcctgggcccctctgattgtCcctggcccacctgcgagtgt	3	11	11	16	1	1	1	0	1	1	0	3	2	3	1	6	2	1	0	6	2	0	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:152279707C>T	ENST00000368799.1	-	3	7690	c.7655G>A	c.(7654-7656)gGa>gAa	p.G2552E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2552	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGATTGTCCCTGGCCCAC	0.592									Ichthyosis				13	330					0	0	0	0	T	152279707	C	T	152279707	3	4	223	1	0	0	0	0	1	0	0	0	5967	855	30	2	4534	2	FLG	1	152279707	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	49988996	152279707	96970914	6	40703											
NUP210L	91181	broad.mit.edu	37	chr1	154018842	154018842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaacttcaatctgtacttCatcctgctcaacagggtgga	12	11	7	11	0	4	0	3	0	1	0	5	1	5	1	1	2	5	2	1	2	5	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:154018842C>T	ENST00000368559.3	-	26	3558	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K	NUP210L_ENST00000271854.3_Missense_Mutation_p.E1163K|NUP210L_ENST00000368553.1_Missense_Mutation_p.E96K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1163						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATCTGTACTTCATCCTGCTCA	0.463													7	36					0	0	0	0	T	154018842	C	T	154018842	3	4	223	1	0	0	0	0	1	0	0	0	10832	835	29	2	2239	2	NUP210L	1	154018842	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	1739135	154018842	95231779	7	40704											
HSPA6	3310	broad.mit.edu	37	chr1	161495705	161495705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacgctgatccagaggaaCgccactatccccaccaagca	13	4	7	17	2	0	2	0	1	0	1	2	3	2	3	6	1	2	2	6	1	3	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:161495705C>T	ENST00000309758.4	+	1	1670	c.1257C>T	c.(1255-1257)aaC>aaT	p.N419N		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	419					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCCAGAGGAACGCCACTATCC	0.582													4	33					0	0	0	0	T	161495705	C	T	161495705	2	4	223	1	0	0	0	0	0	0	0	1	7467	535	19	1		1	HSPA6	1	161495705	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08	7476863	161495705	87754916	8	40705											
UCK2	7371	broad.mit.edu	37	chr1	165877020	165877020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacggctacaccccttcacGcaagaggcaggcatcggagt	11	5	11	14	3	1	1	1	0	0	1	2	2	1	2	2	4	2	4	2	4	3	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:165877020G>A	ENST00000367879.4	+	7	1049	c.746G>A	c.(745-747)cGc>cAc	p.R249H	UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	249					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ACCCCTTCACGCAAGAGGCAG	0.612													22	87					0	0	0	0	A	165877020	G	A	165877020	3	1	223	1	0	0	0	0	1	0	0	0	17020	1087	38	1	772	1	UCK2	1	165877020	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	4381315	165877020	83373601	9	40706											
DCAF6	55827	broad.mit.edu	37	chr1	168037616	168037616	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttataactcgaaacgaactCatgctggaagaaactagaaa	18	8	8	7	2	1	2	1	0	0	2	2	5	1	3	0	1	5	2	0	1	8	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:168037616C>T	ENST00000367840.3	+	21	2800	c.2706C>T	c.(2704-2706)ctC>ctT	p.L902L	DCAF6_ENST00000367843.3_Silent_p.L831L|DCAF6_ENST00000312263.6_Silent_p.L811L|DCAF6_ENST00000432587.2_Silent_p.L871L	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	811					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAAACGAACTCATGCTGGAAG	0.373													9	49					0	0	0	0	T	168037616	C	T	168037616	2	4	223	1	0	0	0	0	0	0	0	1	4307	813	29	2		2	DCAF6	1	168037616	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08	2160596	168037616	81213005	10	40707											
XCL2	6846	broad.mit.edu	37	chr1	168511261	168511261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaaggagccttccgtgatgGtgtaggtcttgattctgcta	7	14	12	8	1	3	2	1	2	2	0	4	3	4	3	2	3	2	2	2	3	3	5			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:168511261G>C	ENST00000367819.2	-	2	178	c.146C>G	c.(145-147)aCc>aGc	p.T49S		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	49					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TTCCGTGATGGTGTAGGTCTT	0.488													4	45					0	0	0	0	C	168511261	G	C	168511261	3	2	223	1	0	0	0	0	1	0	0	0	17520	1261	44	4	206	4	XCL2	1	168511261	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	473645	168511261	80739360	11	40708											
XCL1	6375	broad.mit.edu	37	chr1	168549385	168549385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagcagaatcaagacctacaCcatcacggaaggctccttga	14	7	8	12	1	2	3	2	1	0	2	3	4	3	4	3	2	2	2	3	2	5	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:168549385C>G	ENST00000367818.3	+	2	311	c.146C>G	c.(145-147)aCc>aGc	p.T49S		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	49					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					AAGACCTACACCATCACGGAA	0.483													12	102					0	0	0	0	G	168549385	C	G	168549385	3	3	223	1	0	0	0	0	1	0	0	0	17519	507	18	4	152	4	XCL1	1	168549385	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	38124	168549385	80701236	12	40709											
FAM20B	9917	broad.mit.edu	37	chr1	179013306	179013306	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttataaagggacacagctGaaagccttactgatacttga	14	10	10	7	0	0	3	0	3	0	0	0	4	0	4	1	2	4	2	1	2	6	5			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:179013306G>A	ENST00000263733.4	+	2	660	c.324G>A	c.(322-324)ctG>ctA	p.L108L		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	108						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						GGACACAGCTGAAAGCCTTAC	0.448													8	51					0	0	0	0	A	179013306	G	A	179013306	2	1	223	1	0	0	0	0	0	0	0	1	5581	1277	45	2		2	FAM20B	1	179013306	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08	10463921	179013306	70237315	13	40710											
NCF2	4688	broad.mit.edu	37	chr1	183529328	183529328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctccacttggctgcctttCttaagctgaggttctgttgt	4	16	10	11	0	2	1	0	1	2	0	3	1	3	1	3	2	2	4	3	2	1	5			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:183529328C>G	ENST00000413720.1	-	13	1510	c.1236G>C	c.(1234-1236)aaG>aaC	p.K412N	NCF2_ENST00000418089.1_Missense_Mutation_p.K376N|NCF2_ENST00000367536.1_Missense_Mutation_p.K457N|NCF2_ENST00000367535.3_Missense_Mutation_p.K457N	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	457	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						GGCTGCCTTTCTTAAGCTGAG	0.463													7	167					0	0	0	0	G	183529328	C	G	183529328	3	3	223	1	0	0	0	0	1	0	0	0	10287	912	32	2	217	2	NCF2	1	183529328	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	4516022	183529328	65721293	14	40711											
CNST	163882	broad.mit.edu	37	chr1	246810955	246810955	+	Silent	SNP	G	G	C																															aacaatgaattaaatgagctGcagcagcctgatcttacaga																										TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:246810955G>C	ENST00000366513.4	+	9	1721	c.1452G>C	c.(1450-1452)ctG>ctC	p.L484L	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.L484L	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	484					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TAAATGAGCTGCAGCAGCCTG	0.468													15	80					0	0	0	0	C	246810955	G	C	246810955	2	2	223	1	0	0	0	0	0	0	0	1	3664	1306	46	4		4	CNST	1	246810955	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08	63281627	246810955	2439666	15	40712	309	2									
CNST	163882	broad.mit.edu	37	chr1	246810956	246810956	+	Nonsense_Mutation	SNP	C	C	T																															acaatgaattaaatgagctgCagcagcctgatcttacagac																										TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:246810956C>T	ENST00000366513.4	+	9	1722	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Nonsense_Mutation_p.Q485*	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	485					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AAATGAGCTGCAGCAGCCTGA	0.468													16	81					0	0	0	0	T	246810956	C	T	246810956	4	4	223	1	0	0	0	0	0	1	0	0	3664	711	25	4	1483	4	CNST	1	246810956	Nonsense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	1	246810956	2439665	16	40713	309	2									
OR2G2	81470	broad.mit.edu	37	chr1	247752501	247752501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaagtttgtttctctcttCtacactgtggtaacccgcat	7	15	8	11	1	3	0	0	0	3	0	4	0	3	0	1	2	2	5	1	2	3	5			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:247752501C>T	ENST00000320065.1	+	1	840	c.840C>T	c.(838-840)ttC>ttT	p.F280F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTCTCTCTTCTACACTGTGG	0.463													12	152					0	0	0	0	T	247752501	C	T	247752501	2	4	223	1	0	0	0	0	0	0	0	1	11069	912	32	2		2	OR2G2	1	247752501	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08	941545	247752501	1498120	17	40714											
KIDINS220	57498	broad.mit.edu	37	chr2	8934023	8934023	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcctgctttgttgggcctaTaaagtaatcgcccatctttg	7	14	9	11	2	1	0	0	0	1	0	2	0	1	0	3	1	1	3	3	1	4	6			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:8934023T>C	ENST00000256707.3	-	12	1374	c.1193A>G	c.(1192-1194)tAt>tGt	p.Y398C	KIDINS220_ENST00000473731.1_Missense_Mutation_p.Y398C|KIDINS220_ENST00000319688.5_Missense_Mutation_p.Y399C|KIDINS220_ENST00000418530.1_Missense_Mutation_p.Y356C|KIDINS220_ENST00000427284.1_Missense_Mutation_p.Y398C	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	398					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTGGGCCTATAAAGTAATCG	0.403													15	46					0	0	0	0	C	8934023	T	C	8934023	3	2	223	1	0	0	0	0	1	0	0	0	8322	1406	49	5	4198	5	KIDINS220	2	8934023	Missense_Mutation	SNP	T	TCGA-CR-7404-01A-11D-2129-08		8934023	234265350	18	40715											
SLC8A1	6546	broad.mit.edu	37	chr2	40655980	40655980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctcaaagatatcatcatCtatgatacccactctgattt	12	14	3	12	0	5	3	3	2	2	1	6	3	6	3	2	0	1	0	2	0	4	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:40655980C>G	ENST00000406785.1	-	2	1630	c.1441G>C	c.(1441-1443)Gat>Cat	p.D481H	SLC8A1_ENST00000542756.1_Missense_Mutation_p.D481H|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D481H|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D481H|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D481H|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D481H|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D481H|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D481H|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D481H|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D481H			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	481	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	ATATCATCATCTATGATACCC	0.418													4	59					0	0	0	0	G	40655980	C	G	40655980	3	3	223	1	0	0	0	0	1	0	0	0	14794	913	32	2	1628	2	SLC8A1	2	40655980	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	31721957	40655980	202543393	19	40716											
BCL11A	53335	broad.mit.edu	37	chr2	60688312	60688312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagtgtccctgtggccctCggcctcggccaggtggccgc	3	7	15	16	3	0	0	0	0	0	0	3	0	1	0	5	5	0	1	5	5	1	0			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:60688312C>T	ENST00000335712.6	-	4	1962	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.E545K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.E545K|BCL11A_ENST00000356842.4_Missense_Mutation_p.E579K|BCL11A_ENST00000537768.1_Missense_Mutation_p.E248K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	579					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTGTGGCCCTCGGCCTCGGCC	0.667			T	IGH@	B-CLL								6	24					0	0	0	0	T	60688312	C	T	60688312	3	4	223	1	0	0	0	0	1	0	0	0	1367	893	31	1	882	1	BCL11A	2	60688312	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	20032332	60688312	182511061	20	40717											
REG3G	130120	broad.mit.edu	37	chr2	79255340	79255340	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctgtctccctaggatttCtgaagtggaaagattataac	12	14	8	7	0	3	2	0	1	3	1	4	4	3	4	1	2	1	0	1	2	5	5			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:79255340C>G	ENST00000272324.5	+	6	650	c.466C>G	c.(466-468)Ctg>Gtg	p.L156V	REG3G_ENST00000393897.2_Missense_Mutation_p.L156V|REG3G_ENST00000409471.1_Missense_Mutation_p.L110V	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	156	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTAGGATTTCTGAAGTGGAA	0.483													12	54					0	0	0	0	G	79255340	C	G	79255340	3	3	223	1	0	0	0	0	1	0	0	0	13295	912	32	2	484	2	REG3G	2	79255340	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	18567028	79255340	163944033	21	40718											
REG1A	5967	broad.mit.edu	37	chr2	79349207	79349207	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgattaaggagagtggcActgatgacttcaatgtctgg	11	11	12	7	0	2	4	1	3	1	1	2	5	2	4	0	3	0	1	0	3	2	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:79349207A>T	ENST00000233735.1	+	4	380	c.277A>T	c.(277-279)Act>Tct	p.T93S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	93	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.T93P(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GGAGAGTGGCACTGATGACTT	0.507													17	59					0	0	0	0	T	79349207	A	T	79349207	3	4	223	1	0	0	0	0	1	0	0	0	13292	159	6	5	287	5	REG1A	2	79349207	Missense_Mutation	SNP	A	TCGA-CR-7404-01A-11D-2129-08	93867	79349207	163850166	22	40719											
IMMT	10989	broad.mit.edu	37	chr2	86398430	86398430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgggaccgacagggtatCacctgctgcagaaataattt	11	9	12	9	1	1	1	1	0	0	1	1	3	1	2	2	3	2	4	2	3	3	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:86398430C>T	ENST00000410111.3	-	5	847	c.460G>A	c.(460-462)Gat>Aat	p.D154N	IMMT_ENST00000449247.2_Missense_Mutation_p.D143N|IMMT_ENST00000409051.2_Intron|IMMT_ENST00000254636.5_Missense_Mutation_p.D56N|IMMT_ENST00000442664.2_Missense_Mutation_p.D154N	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	154				D -> E (in Ref. 4; BAG35183).		integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GACAGGGTATCACCTGCTGCA	0.438													3	10					0	0	0	0	T	86398430	C	T	86398430	3	4	223	1	0	0	0	0	1	0	0	0	7771	826	29	2	1860	2	IMMT	2	86398430	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	7049223	86398430	156800943	23	40720											
LIPT1	51601	broad.mit.edu	37	chr2	99779504	99779504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacaaactaaacagtaaaTggaatattctctgtgaaaaa	20	9	5	7	0	1	1	0	1	1	0	2	2	1	2	1	1	2	1	1	1	9	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:99779504T>C	ENST00000393477.3	+	4	1436	c.1084T>C	c.(1084-1086)Tgg>Cgg	p.W362R	MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000340066.1_Missense_Mutation_p.W362R|LIPT1_ENST00000393473.2_Missense_Mutation_p.W362R|LIPT1_ENST00000393474.3_Missense_Mutation_p.W362R|LIPT1_ENST00000393471.2_Missense_Mutation_p.W362R	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	362					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	AAACAGTAAATGGAATATTCT	0.303													8	66					0	0	0	0	C	99779504	T	C	99779504	3	2	223	1	0	0	0	0	1	0	0	0	8884	1464	51	5	1086	5	LIPT1	2	99779504	Missense_Mutation	SNP	T	TCGA-CR-7404-01A-11D-2129-08	13381074	99779504	143419869	24	40721											
MARCO	8685	broad.mit.edu	37	chr2	119750046	119750046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtaaagggagaaaaaggtGaaagaggtaatcactattta	19	8	12	2	0	1	3	1	1	0	2	1	5	1	3	0	3	0	2	0	3	8	5			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:119750046G>A	ENST00000541757.1	+	16	1392	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	MARCO_ENST00000327097.4_Missense_Mutation_p.E416K			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	416	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGAAAAAGGTGAAAGAGGTAA	0.433													4	38					0	0	0	0	A	119750046	G	A	119750046	3	1	223	1	0	0	0	0	1	0	0	0	9380	1291	45	2	1304	2	MARCO	2	119750046	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	19970542	119750046	123449327	25	40722											
NEB	4703	broad.mit.edu	37	chr2	152521102	152521102	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctttcttcttttcctcttcCcagccagctttgtacagttt	4	19	4	14	0	3	0	0	0	3	0	5	0	5	0	4	0	3	3	4	0	1	8			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:152521102C>T	ENST00000427231.2	-	44	5566	c.5364G>A	c.(5362-5364)tgG>tgA	p.W1788*	NEB_ENST00000409198.1_Nonsense_Mutation_p.W1788*|NEB_ENST00000603639.1_Nonsense_Mutation_p.W1788*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W1788*|NEB_ENST00000397345.3_Nonsense_Mutation_p.W1788*|NEB_ENST00000172853.10_Nonsense_Mutation_p.W1788*	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1788					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTCCTCTTCCCAGCCAGCTT	0.418													5	14					0	0	0	0	T	152521102	C	T	152521102	4	4	223	1	0	0	0	0	0	1	0	0	10372	624	22	4	20878	4	NEB	2	152521102	Nonsense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	32771056	152521102	90678271	26	40723											
SLC4A10	57282	broad.mit.edu	37	chr2	162735688	162735688	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccaggtgctgaagcatcGaacatcttagtgggagaact	11	9	11	10	1	1	2	0	1	1	1	3	4	2	2	2	2	4	2	2	2	4	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:162735688G>A	ENST00000375514.5	+	9	1226	c.939G>A	c.(937-939)tcG>tcA	p.S313S	SLC4A10_ENST00000446997.1_Silent_p.S332S|SLC4A10_ENST00000272716.5_Silent_p.S302S|SLC4A10_ENST00000535165.1_Silent_p.S332S|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Silent_p.S332S|SLC4A10_ENST00000415876.2_Silent_p.S302S	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	332					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTGAAGCATCGAACATCTTAG	0.418													9	51					0	0	0	0	A	162735688	G	A	162735688	2	1	223	1	0	0	0	0	0	0	0	1	14739	1045	37	1		1	SLC4A10	2	162735688	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08	10214586	162735688	80463685	27	40724											
XIRP2	129446	broad.mit.edu	37	chr2	168106863	168106863	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatactatcccaggatggctGataagtgaagataagagaga	17	8	11	5	0	0	5	0	2	0	3	1	7	1	6	1	2	1	1	1	2	6	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:168106863G>C	ENST00000409195.1	+	9	9050	c.8961G>C	c.(8959-8961)ctG>ctC	p.L2987L	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L2987L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L2765L|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2812					actin cytoskeleton organization	cell junction	actin binding	p.L2987L(2)		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						CAGGATGGCTGATAAGTGAAG	0.343													22	96					0	0	0	0	C	168106863	G	C	168106863	2	2	223	1	0	0	0	0	0	0	0	1	17526	1277	45	2		2	XIRP2	2	168106863	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08	5371175	168106863	75092510	28	40725											
PDK1	5163	broad.mit.edu	37	chr2	173429352	173429352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtcaccagccagaatgttCagtactttttggatcgattc	9	14	8	10	1	2	1	2	0	0	1	4	3	2	2	2	1	2	2	2	1	2	5			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:173429352C>G	ENST00000410055.1	+	4	632	c.532C>G	c.(532-534)Cag>Gag	p.Q178E	PDK1_ENST00000544863.1_Missense_Mutation_p.Q23E|PDK1_ENST00000543905.1_Missense_Mutation_p.Q102E|PDK1_ENST00000282077.2_Missense_Mutation_p.Q178E|PDK1_ENST00000392571.2_Missense_Mutation_p.Q198E	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	178	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CCAGAATGTTCAGTACTTTTT	0.433									Autosomal Dominant Polycystic Kidney Disease				6	65					0	0	0	0	G	173429352	C	G	173429352	3	3	223	1	0	0	0	0	1	0	0	0	11746	827	29	2	546	2	PDK1	2	173429352	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	5322489	173429352	69770021	29	40726											
TTN	7273	broad.mit.edu	37	chr2	179411092	179411092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactttttcacagagatctaGctccttgtctcctttggtcc	6	16	7	12	0	3	1	1	0	2	1	6	3	5	1	3	1	1	1	3	1	1	5			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:179411092G>C	ENST00000589042.1	-	342	95190	c.94966C>G	c.(94966-94968)Cta>Gta	p.L31656V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L30015V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L22783V|TTN_ENST00000460472.2_Missense_Mutation_p.L22591V|TTN_ENST00000342992.6_Missense_Mutation_p.L29088V|TTN_ENST00000359218.5_Missense_Mutation_p.L22716V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30015	Fibronectin type-III 130.						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)			CAGAGATCTAGCTCCTTGTCT	0.438													14	74					0	0	0	0	C	179411092	G	C	179411092	3	2	223	1	0	0	0	0	1	0	0	0	16831	962	34	4	13097	4	TTN	2	179411092	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	5981740	179411092	63788281	30	40727											
TTN	7273	broad.mit.edu	37	chr2	179411461	179411461	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacggtgaagaaattgtcaGatacaatggtgtagttgcac	13	11	11	6	1	2	3	2	1	0	2	2	3	2	3	0	2	2	3	0	2	5	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:179411461G>C	ENST00000589042.1	-	341	94918	c.94694C>G	c.(94693-94695)tCt>tGt	p.S31565C	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S29924C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22692C|TTN_ENST00000460472.2_Missense_Mutation_p.S22500C|TTN_ENST00000342992.6_Missense_Mutation_p.S28997C|TTN_ENST00000359218.5_Missense_Mutation_p.S22625C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29924							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)			GAAATTGTCAGATACAATGGT	0.483													15	43					0	0	0	0	C	179411461	G	C	179411461	3	2	223	1	0	0	0	0	1	0	0	0	16831	942	33	2	13373	2	TTN	2	179411461	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	369	179411461	63787912	31	40728											
TTN	7273	broad.mit.edu	37	chr2	179585815	179585815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgaagttcgctgtcatttCggaaccatgaaactttgatt	11	14	8	8	2	1	3	1	3	0	0	3	4	1	4	1	1	2	2	1	1	3	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:179585815C>T	ENST00000589042.1	-	79	23155	c.22931G>A	c.(22930-22932)cGa>cAa	p.R7644Q	TTN_ENST00000591111.1_Missense_Mutation_p.R7327Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6400Q|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7327	Ig-like 58.						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)			GCTGTCATTTCGGAACCATGA	0.393													15	73					0	0	0	0	T	179585815	C	T	179585815	3	4	223	1	0	0	0	0	1	0	0	0	16831	884	31	1	81734	1	TTN	2	179585815	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	174354	179585815	63613558	32	40729											
SPHKAP	80309	broad.mit.edu	37	chr2	228882641	228882641	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcctcttcaaggatcGgcagggtacgttgggtgtca	6	14	12	9	2	4	0	2	0	2	0	6	1	5	1	1	4	1	3	1	4	2	5			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:228882641G>A	ENST00000392056.3	-	7	2975	c.2929C>T	c.(2929-2931)Cga>Tga	p.R977*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.R977*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	977						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCAAGGATCGGCAGGGTACG	0.532													22	56					0	0	0	0	A	228882641	G	A	228882641	4	1	223	1	0	0	0	0	0	1	0	0	15138	1124	39	1	2197	1	SPHKAP	2	228882641	Nonsense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	49296826	228882641	14316732	33	40730											
ARL8B	55207	broad.mit.edu	37	chr3	5215724	5215724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctagtgcttggaaacaagaGagatcttcctaatgccttgg	11	11	11	8	0	1	2	0	0	1	2	2	4	2	3	2	2	3	2	2	2	4	5			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:5215724G>C	ENST00000256496.3	+	5	641	c.395G>C	c.(394-396)aGa>aCa	p.R132T	ARL8B_ENST00000468010.1_Intron|AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000419534.2_Intron	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	132					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		GGAAACAAGAGAGATCTTCCT	0.313													17	177					0	0	0	0	C	5215724	G	C	5215724	3	2	223	1	0	0	0	0	1	0	0	0	951	942	33	2	413	2	ARL8B	3	5215724	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08		5215724	192806706	34	40731											
NR1D2	9975	broad.mit.edu	37	chr3	24018766	24018766	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggctttgcaggaaactctCattcgtgcactaaggacctt	10	11	10	10	1	1	0	1	0	1	0	3	3	1	2	1	3	3	3	1	3	2	4	rs138945807	byFrequency	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:24018766C>T	ENST00000312521.4	+	8	1915	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	532					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AGGAAACTCTCATTCGTGCAC	0.368													5	32					0	0	0	0	T	24018766	C	T	24018766	2	4	223	1	0	0	0	0	0	0	0	1	10687	813	29	2		2	NR1D2	3	24018766	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08	18803042	24018766	174003664	35	40732											
UQCRC1	7384	broad.mit.edu	37	chr3	48641703	48641703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctccacagcctgggctaGaggtgtgccctggaatgctg	6	8	13	14	0	0	1	0	0	0	1	1	2	1	2	5	3	3	2	5	3	2	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:48641703G>C	ENST00000203407.5	-	5	1005	c.589C>G	c.(589-591)Cta>Gta	p.L197V		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	197					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	GCCTGGGCTAGAGGTGTGCCC	0.572													5	93					0	0	0	0	C	48641703	G	C	48641703	3	2	223	1	0	0	0	0	1	0	0	0	17115	933	33	2	889	2	UQCRC1	3	48641703	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	24622937	48641703	149380727	36	40733											
IP6K2	51447	broad.mit.edu	37	chr3	48732379	48732381	+	In_Frame_Del	DEL	AGG	AGG	-																															gagatgctgggctgagggccAggaggaggagaaggaggaga																										TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:48732379_48732381delAGG	ENST00000431721.2	-	3	746_748	c.509_511delCCT	c.(508-513)tgg>t	p.SW170del	IP6K2_ENST00000446860.1_In_Frame_Del_p.SW173del|IP6K2_ENST00000453202.1_In_Frame_Del_p.SW115del|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000449610.1_In_Frame_Del_p.SW115del|IP6K2_ENST00000443964.1_In_Frame_Del_p.SW174del|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000328631.5_Intron|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000417896.1_In_Frame_Del_p.SW115del|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000413298.1_Intron	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	0					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GCTGAGGGCCaggaggaggagaa	0.532													4	2	---	---	---	---					-	48732381	AGG	-	48732379	7	5	223	1	0	1	0	1	0	0	0	0	7842	188	7	0	1307	0	IP6K2	3	48732379	In_Frame_Del	DEL	AGG	TCGA-CR-7404-01A-11D-2129-08	90676	48732379	149290051	37	40734											
QTRTD1	79691	broad.mit.edu	37	chr3	113798870	113798870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggatgtgccctgactttCagttttgattaccagccgaa	8	12	11	10	2	1	2	1	2	0	0	1	4	1	3	3	2	3	1	3	2	2	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:113798870C>A	ENST00000281273.4	+	8	1121	c.864C>A	c.(862-864)ttC>ttA	p.F288L	QTRTD1_ENST00000493014.1_Missense_Mutation_p.F182L|QTRTD1_ENST00000485050.1_Missense_Mutation_p.F300L|QTRTD1_ENST00000479882.1_Missense_Mutation_p.F165L	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	288					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CCCTGACTTTCAGTTTTGATT	0.413													32	194					6.70999e-13	7.46486e-13	1	0	A	113798870	C	A	113798870	3	1	223	1	0	0	0	0	1	0	0	0	12968	825	29	2	886	2	QTRTD1	3	113798870	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	65066491	113798870	84223560	38	40735											
NEK11	79858	broad.mit.edu	37	chr3	131068603	131068603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgatgggaaaagaacctactCtccagaaccatctctaggca	14	7	8	12	1	2	2	0	0	2	2	4	4	2	3	3	2	3	1	3	2	6	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:131068603C>T	ENST00000383366.4	+	18	2214	c.1921C>T	c.(1921-1923)Ctc>Ttc	p.L641F	NEK11_ENST00000510769.1_Missense_Mutation_p.L536F|NEK11_ENST00000429253.2_Missense_Mutation_p.L641F|NEK11_ENST00000508196.1_Missense_Mutation_p.L641F|NEK11_ENST00000412440.2_Missense_Mutation_p.L457F|NEK11_ENST00000510688.1_3'UTR|RP11-933H2.4_ENST00000513905.1_RNA|RP11-933H2.4_ENST00000502521.1_RNA	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	641					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGAACCTACTCTCCAGAACCA	0.403													5	78					0	0	0	0	T	131068603	C	T	131068603	3	4	223	1	0	0	0	0	1	0	0	0	10393	913	32	2	2001	2	NEK11	3	131068603	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	17269733	131068603	66953827	39	40736											
ZBTB38	253461	broad.mit.edu	37	chr3	141163374	141163374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacagtggctctgcaccctCggtcattgtacacagcagcc	8	9	9	15	1	2	0	1	0	1	0	3	0	2	0	2	2	5	4	2	2	2	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:141163374C>T	ENST00000514251.1	+	4	2423	c.2144C>T	c.(2143-2145)tCg>tTg	p.S715L	ZBTB38_ENST00000321464.5_Missense_Mutation_p.S716L|ZBTB38_ENST00000441582.2_Missense_Mutation_p.S715L			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	715					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TCTGCACCCTCGGTCATTGTA	0.522													19	128					0	0	0	0	T	141163374	C	T	141163374	3	4	223	1	0	0	0	0	1	0	0	0	17634	893	31	1	2146	1	ZBTB38	3	141163374	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	10094771	141163374	56859056	40	40737											
PLD1	5337	broad.mit.edu	37	chr3	171404477	171404477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttcacaaattacttaccaGcatgaggtctagtgagtcct	12	12	7	10	0	2	2	1	2	1	0	3	2	3	2	2	1	3	1	2	1	4	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:171404477G>A	ENST00000351298.4	-	16	1991	c.1865C>T	c.(1864-1866)gCt>gTt	p.A622V	PLD1_ENST00000356327.5_Intron|PLD1_ENST00000340989.4_Missense_Mutation_p.A622V|PLD1_ENST00000342215.6_Intron	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	622	Catalytic.		A -> S (in dbSNP:rs2290480).		cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTACTTACCAGCATGAGGTCT	0.443													17	225					0	0	0	0	A	171404477	G	A	171404477	3	1	223	1	0	0	0	0	1	0	0	0	12117	971	34	4	1407	4	PLD1	3	171404477	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	30241103	171404477	26617953	41	40738											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	66					0	0	0	0	A	178936091	G	A	178936091	3	1	223	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	7531614	178936091	19086339	42	40739											
ATP13A4	84239	broad.mit.edu	37	chr3	193175211	193175211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taactaccatggcatgtgccGgcactcccttgatgtggaaa	10	10	10	11	1	0	1	0	1	0	0	1	2	1	2	3	3	3	2	3	3	3	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:193175211G>A	ENST00000342695.4	-	15	2040	c.1718C>T	c.(1717-1719)cCg>cTg	p.P573L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.P554L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	573					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGCATGTGCCGGCACTCCCTT	0.458													13	185					0	0	0	0	A	193175211	G	A	193175211	3	1	223	1	0	0	0	0	1	0	0	0	1130	1116	39	1	1936	1	ATP13A4	3	193175211	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	14239120	193175211	4847219	43	40740											
TNK2	10188	broad.mit.edu	37	chr3	195608990	195608990	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgaggtagtgctcgcatCagcccaaagtccccgatctt	8	11	9	13	2	3	1	1	1	2	0	5	2	4	1	3	1	2	3	3	1	2	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:195608990C>T	ENST00000333602.6	-	6	1436	c.819G>A	c.(817-819)ctG>ctA	p.L273L	TNK2_ENST00000316664.3_Silent_p.L273L|TNK2_ENST00000468819.1_Intron|TNK2_ENST00000392400.1_Silent_p.L273L|TNK2_ENST00000381916.2_Silent_p.L336L|TNK2_ENST00000428187.1_Silent_p.L305L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	273	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTGCTCGCATCAGCCCAAAGT	0.592													14	110					0	0	0	0	T	195608990	C	T	195608990	2	4	223	1	0	0	0	0	0	0	0	1	16412	813	29	2		2	TNK2	3	195608990	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08	2433779	195608990	2413440	44	40741											
ALB	213	broad.mit.edu	37	chr4	74274401	74274401	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtgcaaaacaagaacctGagagaaatgaatgcttcttg	15	9	10	7	0	1	4	0	2	1	2	1	5	1	4	1	0	4	3	1	0	6	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr4:74274401G>C	ENST00000295897.4	+	4	450	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	ALB_ENST00000503124.1_Intron|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.E121Q|ALB_ENST00000401494.3_Intron	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	121	Albumin 1.		E -> G.		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	ACAAGAACCTGAGAGAAATGA	0.433													7	44					0	0	0	0	C	74274401	G	C	74274401	3	2	223	1	0	0	0	0	1	0	0	0	486	1291	45	2	375	2	ALB	4	74274401	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08		74274401	116879875	45	40742											
GPRIN3	285513	broad.mit.edu	37	chr4	90171030	90171030	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacacaccaggagaagacaTatctggttgggtggtctcat	12	9	12	8	0	2	2	1	0	2	2	3	4	2	2	1	4	1	1	1	4	3	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr4:90171030T>C	ENST00000333209.3	-	2	750	c.232A>G	c.(232-234)Atg>Gtg	p.M78V		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	78										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGAGAAGACATATCTGGTTGG	0.582													26	63					0	0	0	0	C	90171030	T	C	90171030	3	2	223	1	0	0	0	0	1	0	0	0	6781	1406	49	5	2102	5	GPRIN3	4	90171030	Missense_Mutation	SNP	T	TCGA-CR-7404-01A-11D-2129-08	15896629	90171030	100983246	46	40743											
ZNF827	152485	broad.mit.edu	37	chr4	146824152	146824152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctcgcaggacctcactgtCcagtgccaccagctccaacg	8	7	9	17	2	2	0	1	0	1	0	5	1	4	1	5	1	3	2	5	1	1	0			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr4:146824152C>T	ENST00000508784.1	-	2	486	c.259G>A	c.(259-261)Gac>Aac	p.D87N	ZNF827_ENST00000379448.4_Missense_Mutation_p.D87N|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACCTCACTGTCCAGTGCCACC	0.602													8	27					0	0	0	0	T	146824152	C	T	146824152	3	4	223	1	0	0	0	0	1	0	0	0	18273	855	30	2	3022	2	ZNF827	4	146824152	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	56653122	146824152	44330124	47	40744											
NIPBL	25836	broad.mit.edu	37	chr5	37064919	37064929	+	Frame_Shift_Del	DEL	TGCTAATAAGC	TGCTAATAAGC	-																															aaaaaaattgctctaacgagTgctaataagctgactaataa																										TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr5:37064919_37064929delTGCTAATAAGC	ENST00000282516.8	+	47	8839_8849	c.8340_8350delTGCTAATAAGC	c.(8338-8352)agtgfs	p.SANKL2780fs		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2780					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTCTAACGAGTGCTAATAAGCTGACTAATAA	0.427													14	62	---	---	---	---					-	37064929	TGCTAATAAGC	-	37064919	7	5	223	1	0	1	0	1	0	0	0	0	10498	1693	59	0	8567	0	NIPBL	5	37064919	Frame_Shift_Del	DEL	TGCTAATAAGC	TCGA-CR-7404-01A-11D-2129-08		37064919	143850341	48	40745											
PRKAA1	5562	broad.mit.edu	37	chr5	40798216	40798216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcacccagaatgtagtGgccgatcttcacccgcccgt	7	9	10	15	4	3	1	2	0	1	1	3	2	3	1	4	1	0	1	4	1	2	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr5:40798216G>T	ENST00000397128.2	-	1	84	c.76C>A	c.(76-78)Cac>Aac	p.H26N	PRKAA1_ENST00000296800.4_Missense_Mutation_p.H17N|PRKAA1_ENST00000354209.3_Missense_Mutation_p.H26N	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	26					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	AGAATGTAGTGGCCGATCTTC	0.652													5	32					2.0095e-06	2.19442e-06	1	0	T	40798216	G	T	40798216	3	4	223	1	0	0	0	0	1	0	0	0	12573	1348	47	4	1688	4	PRKAA1	5	40798216	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	3733297	40798216	140117044	49	40746											
PCDHGC3	5098	broad.mit.edu	37	chr5	140855927	140855927	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gattctttgaggtgaaccggGagaccggagagatgtttgtg	9	11	16	5	2	1	4	0	2	1	2	1	8	1	5	2	3	1	1	2	3	1	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr5:140855927G>C	ENST00000308177.3	+	1	348	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAACCGGGAGACCGGAGA	0.572													7	120					0	0	0	0	C	140855927	G	C	140855927	3	2	223	1	0	0	0	0	1	0	0	0	11640	1175	41	2	246	2	PCDHGC3	5	140855927	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	100057711	140855927	40059333	50	40747											
LY6G5C	80741	broad.mit.edu	37	chr6	31646945	31646945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagatgtcagatcccagaagGcaccctaactccttggtctc	10	9	8	14	0	2	3	1	0	1	3	5	3	4	3	3	2	1	1	3	2	2	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:31646945G>A	ENST00000375858.3	-	2	221	c.213C>T	c.(211-213)tgC>tgT	p.C71C	LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000375860.2_Silent_p.C72C|LY6G5C_ENST00000383237.4_Silent_p.C74C	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	74	UPAR/Ly6.					extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						ATCCCAGAAGGCACCCTAACT	0.542													35	136					0	0	0	0	A	31646945	G	A	31646945	2	1	223	1	0	0	0	0	0	0	0	1	9158	1195	42	4		4	LY6G5C	6	31646945	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08		31646945	139468122	51	40748											
TNXB	7148	broad.mit.edu	37	chr6	32016196	32016196	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccattctggagtccaaagAgcaggaacttgtacttgcgg	10	10	11	10	1	1	1	0	0	1	1	3	3	3	3	2	3	4	2	2	3	3	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:32016196A>T	ENST00000375244.3	-	29	10190	c.9989T>A	c.(9988-9990)cTc>cAc	p.L3330H	TNXB_ENST00000375247.2_Missense_Mutation_p.L3328H			P22105	TENX_HUMAN	tenascin XB	3375	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGTCCAAAGAGCAGGAACTT	0.701													6	31					0	0	0	0	T	32016196	A	T	32016196	3	4	223	1	0	0	0	0	1	0	0	0	16440	304	11	5	4794	5	TNXB	6	32016196	Missense_Mutation	SNP	A	TCGA-CR-7404-01A-11D-2129-08	369251	32016196	139098871	52	40749											
TNXB	7148	broad.mit.edu	37	chr6	32017777	32017777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccatcattcactcacccGtcaccccaatggcagacaca	11	7	4	19	1	4	1	4	0	0	1	5	1	5	1	4	1	0	1	4	1	1	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:32017777G>A	ENST00000375244.3	-	27	9638	c.9437C>T	c.(9436-9438)aCg>aTg	p.T3146M	TNXB_ENST00000375247.2_Missense_Mutation_p.T3144M			P22105	TENX_HUMAN	tenascin XB	3191	Fibronectin type-III 23.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCACTCACCCGTCACCCCAAT	0.602													8	83					0	0	0	0	A	32017777	G	A	32017777	3	1	223	1	0	0	0	0	1	0	0	0	16440	1145	40	1	5354	1	TNXB	6	32017777	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	1581	32017777	139097290	53	40750											
LAMA4	3910	broad.mit.edu	37	chr6	112510392	112510392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttacactgtcacatgggcctCccccgcagttgcacactgtg	7	10	9	15	1	1	0	1	0	0	0	2	0	2	0	3	1	2	3	3	1	1	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:112510392C>T	ENST00000230538.7	-	7	1131	c.734G>A	c.(733-735)gGa>gAa	p.G245E	LAMA4_ENST00000522006.1_Missense_Mutation_p.G245E|LAMA4_ENST00000389463.4_Missense_Mutation_p.G245E|LAMA4_ENST00000424408.2_Missense_Mutation_p.G245E	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	245	Laminin EGF-like 4; truncated.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACATGGGCCTCCCCCGCAGTT	0.428													5	28					0	0	0	0	T	112510392	C	T	112510392	3	4	223	1	0	0	0	0	1	0	0	0	8661	855	30	2	4869	2	LAMA4	6	112510392	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	80492615	112510392	58604675	54	40751											
HOXA1	3198	broad.mit.edu	37	chr7	27135348	27135348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggtggtggggcgaacCgatctgcacccccctgccca	5	7	15	14	2	1	0	0	0	1	0	1	2	1	0	5	5	3	1	5	5	1	0			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr7:27135348C>T	ENST00000343060.4	-	1	245	c.184G>A	c.(184-186)Ggt>Agt	p.G62S	HOXA1_ENST00000355633.5_Missense_Mutation_p.G62S|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	62						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						tggGGCGAACCGATCTGCACC	0.647											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	32					0	0	0	0	T	27135348	C	T	27135348	3	4	223	1	0	0	0	0	1	0	0	0	7338	652	23	1	831	1	HOXA1	7	27135348	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08		27135348	132003315	55	40752											
HECW1	23072	broad.mit.edu	37	chr7	43519316	43519316	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcaccgacagcacctccaGaggctccgaagttacagcgc	11	5	9	16	3	1	1	1	0	0	1	3	3	3	1	4	1	3	3	4	1	2	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr7:43519316G>A	ENST00000395891.1	+	17	3812	c.3207G>A	c.(3205-3207)caG>caA	p.Q1069Q	HECW1_ENST00000453890.1_Silent_p.Q1035Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1069					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCACCTCCAGAGGCTCCGAA	0.557													7	120					0	0	0	0	A	43519316	G	A	43519316	2	1	223	1	0	0	0	0	0	0	0	1	7092	933	33	2		2	HECW1	7	43519316	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08	16383968	43519316	115619347	56	40753											
TRPV6	55503	broad.mit.edu	37	chr7	142569516	142569516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccctgttgattatcccacGcaggtctctcctcagggtcc	6	11	8	16	1	2	1	1	1	1	0	6	1	5	1	5	2	0	2	5	2	1	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr7:142569516G>A	ENST00000359396.3	-	15	2367	c.2122C>T	c.(2122-2124)Cgt>Tgt	p.R708C		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	708	Interaction with calmodulin.				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATTATCCCACGCAGGTCTCTC	0.567													8	62					0	0	0	0	A	142569516	G	A	142569516	3	1	223	1	0	0	0	0	1	0	0	0	16695	1087	38	1	59	1	TRPV6	7	142569516	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	99050200	142569516	16569147	57	40754											
CHD7	55636	broad.mit.edu	37	chr8	61764696	61764696	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcagctataaaaggcaacaGatgaggcaagaggccctaat	16	5	11	9	1	0	3	0	1	0	2	0	3	0	3	1	3	2	4	1	3	6	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr8:61764696G>A	ENST00000423902.2	+	29	6263	c.5784G>A	c.(5782-5784)caG>caA	p.Q1928Q	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1928					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAGGCAACAGATGAGGCAAG	0.527													7	41					0	0	0	0	A	61764696	G	A	61764696	2	1	223	1	0	0	0	0	0	0	0	1	3359	933	33	2		2	CHD7	8	61764696	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08		61764696	84599326	58	40755											
CHMP4C	92421	broad.mit.edu	37	chr8	82670413	82670413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacttgaagaattggaacagGaggaattaaataagaagatg	20	8	11	2	0	0	4	0	1	0	3	0	7	0	7	0	3	2	0	0	3	9	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr8:82670413G>A	ENST00000297265.4	+	4	713	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	174	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						ATTGGAACAGGAGGAATTAAA	0.433													4	52					0	0	0	0	A	82670413	G	A	82670413	3	1	223	1	0	0	0	0	1	0	0	0	3387	1175	41	2	534	2	CHMP4C	8	82670413	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	20905717	82670413	63693609	59	40756											
TRPS1	7227	broad.mit.edu	37	chr8	116426463	116426463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacattttgttgaaagttCatcttgagtacttctatcaa	12	16	5	8	0	4	2	2	2	2	0	4	2	4	2	0	0	1	3	0	0	4	8			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr8:116426463C>T	ENST00000395715.3	-	7	4250	c.3673G>A	c.(3673-3675)Gaa>Aaa	p.E1225K	TRPS1_ENST00000520276.1_Missense_Mutation_p.E1216K|TRPS1_ENST00000220888.5_Missense_Mutation_p.E1212K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E966K	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1212	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTTGAAAGTTCATCTTGAGTA	0.418									Langer-Giedion syndrome				12	62					0	0	0	0	T	116426463	C	T	116426463	3	4	223	1	0	0	0	0	1	0	0	0	16688	835	29	2	215	2	TRPS1	8	116426463	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	33756050	116426463	29937559	60	40757											
MAPK15	225689	broad.mit.edu	37	chr8	144803822	144803823	+	Frame_Shift_Ins	INS	-	-	C																															cccctggggcgaaggaagcgINSccccccttgacactctcgct																										TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr8:144803822_144803823insC	ENST00000338033.4	+	12	1427_1428	c.1308_1309insC	c.(1306-1311)gcccccfs	p.AP436fs		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	436					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGAAGGAAGCGCCCCCCTTGAC	0.644													7	135	---	---	---	---					C	144803823	-	C	144803822	7	5	223	1	0	1	1	0	0	0	0	0	9346	1074	38	0	1354	0	MAPK15	8	144803822	Frame_Shift_Ins	INS	-	TCGA-CR-7404-01A-11D-2129-08	28377359	144803822	1560200	61	40758											
TTC39B	158219	broad.mit.edu	37	chr9	15214144	15214144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaagtaaattaccaggggcGaagcaattctaaggcgtctg	14	8	11	8	2	2	0	0	0	2	0	2	1	2	0	1	3	2	2	1	3	7	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr9:15214144G>A	ENST00000355694.2	-	4	511	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	TTC39B_ENST00000507285.1_5'UTR|TTC39B_ENST00000507993.1_5'UTR|TTC39B_ENST00000541445.1_Missense_Mutation_p.R93C|TTC39B_ENST00000380850.4_Missense_Mutation_p.R159C|TTC39B_ENST00000297615.5_Intron|TTC39B_ENST00000582994.1_5'UTR|TTC39B_ENST00000512701.1_Missense_Mutation_p.R159C	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	93							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TACCAGGGGCGAAGCAATTCT	0.368													17	43					0	0	0	0	A	15214144	G	A	15214144	3	1	223	1	0	0	0	0	1	0	0	0	16804	1058	37	1	1662	1	TTC39B	9	15214144	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08		15214144	125999287	62	40759											
CEP78	84131	broad.mit.edu	37	chr9	80856706	80856706	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagcagatcacatggccaaGatcttaaaggtaactttatg	14	10	10	7	0	2	2	1	0	1	2	2	3	2	3	1	3	2	2	1	3	5	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr9:80856706G>A	ENST00000424347.2	+	4	883	c.594G>A	c.(592-594)aaG>aaA	p.K198K	CEP78_ENST00000376598.2_Silent_p.K198K|CEP78_ENST00000277082.5_Silent_p.K198K|CEP78_ENST00000376597.4_Silent_p.K198K|CEP78_ENST00000415759.2_Silent_p.K198K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	198					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						ACATGGCCAAGATCTTAAAGG	0.343													13	38					0	0	0	0	A	80856706	G	A	80856706	2	1	223	1	0	0	0	0	0	0	0	1	3291	933	33	2		2	CEP78	9	80856706	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08	65642562	80856706	60356725	63	40760											
GTPBP4	23560	broad.mit.edu	37	chr10	1042133	1042133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcggccctgggacggatGtgcacagtgatcaagaggca	9	6	16	10	3	1	2	1	1	0	1	1	4	1	4	1	4	2	2	1	4	1	0			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:1042133G>A	ENST00000360803.4	+	4	493	c.411G>A	c.(409-411)atG>atA	p.M137I	GTPBP4_ENST00000538293.1_Missense_Mutation_p.M21I|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Missense_Mutation_p.M90I	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	137					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TGGGACGGATGTGCACAGTGA	0.512													3	17					0	0	0	0	A	1042133	G	A	1042133	3	1	223	1	0	0	0	0	1	0	0	0	6932	1377	48	4	425	4	GTPBP4	10	1042133	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08		1042133	134492614	64	40761											
EPC1	80314	broad.mit.edu	37	chr10	32582604	32582604	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttctttttcagtttattCacaaatacttcatcttcaga	11	20	2	8	0	6	1	4	0	2	1	6	1	6	1	0	0	1	1	0	0	3	10			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:32582604C>T	ENST00000319778.6	-	3	677	c.375G>A	c.(373-375)gtG>gtA	p.V125V	EPC1_ENST00000263062.8_Silent_p.V125V|EPC1_ENST00000375110.2_Silent_p.V75V	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	125					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TCAGTTTATTCACAAATACTT	0.383													8	36					0	0	0	0	T	32582604	C	T	32582604	2	4	223	1	0	0	0	0	0	0	0	1	5198	813	29	2		2	EPC1	10	32582604	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08	31540471	32582604	102952143	65	40762											
ANKRD30A	91074	broad.mit.edu	37	chr10	37421251	37421251	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgataaaaaatgcaaatgcGaatgcagttaataagtataa	20	10	7	4	1	0	1	0	1	0	0	0	2	0	1	0	0	3	4	0	0	9	5			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:37421251G>C	ENST00000374660.1	+	4	525	c.426G>C	c.(424-426)gcG>gcC	p.A142A	ANKRD30A_ENST00000602533.1_Silent_p.A142A|ANKRD30A_ENST00000361713.1_Silent_p.A142A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATGCAAATGCGAATGCAGTTA	0.299													6	76					0	0	0	0	C	37421251	G	C	37421251	2	2	223	1	0	0	0	0	0	0	0	1	658	1045	37	3		3	ANKRD30A	10	37421251	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08	4838647	37421251	98113496	66	40763											
AIFM2	84883	broad.mit.edu	37	chr10	71874076	71874076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccatggacaggaggaacGtcagtgcacctgcaagcaga	12	5	12	12	1	1	1	1	0	0	1	2	4	2	4	3	3	4	3	3	3	2	0			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:71874076G>A	ENST00000307864.1	-	9	1193	c.980C>T	c.(979-981)aCg>aTg	p.T327M	AIFM2_ENST00000373248.1_Missense_Mutation_p.T327M	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	327					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CAGGAGGAACGTCAGTGCACC	0.592													12	39					0	0	0	0	A	71874076	G	A	71874076	3	1	223	1	0	0	0	0	1	0	0	0	427	1145	40	1	145	1	AIFM2	10	71874076	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	34452825	71874076	63660671	67	40764											
NOLC1	9221	broad.mit.edu	37	chr10	103912186	103912186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatggcggacgccggcattCgccgcgtggttcccagcgac	5	6	16	14	7	0	0	0	0	0	0	2	3	1	2	3	5	1	2	3	5	0	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:103912186C>T	ENST00000405356.1	+	1	254	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.R7C|NOLC1_ENST00000605788.1_Missense_Mutation_p.R7C			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	7					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CGCCGGCATTCGCCGCGTGGT	0.622													12	72					0	0	0	0	T	103912186	C	T	103912186	3	4	223	1	0	0	0	0	1	0	0	0	10599	884	31	1	21	1	NOLC1	10	103912186	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	32038110	103912186	31622561	68	40765											
C11orf35	256329	broad.mit.edu	37	chr11	557988	557988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgcagctcggcctccatctCctggagcgtgcgggtggtct	3	10	14	14	3	2	0	0	0	2	0	5	1	3	1	3	4	4	2	3	4	0	0			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:557988C>G	ENST00000329451.3	-	5	513	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	151										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTCCATCTCCTGGAGCGTG	0.657													11	25					0	0	0	0	G	557988	C	G	557988	3	3	223	1	0	0	0	0	1	0	0	0	1649	864	30	2	1493	2	C11orf35	11	557988	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08		557988	134448528	69	40766											
C11orf35	256329	broad.mit.edu	37	chr11	558188	558188	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcgctccttctgttccttCaactcctggatcagcttctg	4	15	7	15	1	4	0	2	0	2	0	8	1	7	1	3	1	2	4	3	1	1	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:558188C>G	ENST00000329451.3	-	4	434	c.372G>C	c.(370-372)ttG>ttC	p.L124F	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	124										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGTTCCTTCAACTCCTGGA	0.652													7	26					0	0	0	0	G	558188	C	G	558188	3	3	223	1	0	0	0	0	1	0	0	0	1649	825	29	2	1576	2	C11orf35	11	558188	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	200	558188	134448328	70	40767											
OR51A2	401667	broad.mit.edu	37	chr11	4976057	4976057	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactctaatctgtttagttTttacacaataaacaattggt	13	17	4	7	0	3	0	1	0	2	0	3	0	3	0	0	1	2	2	0	1	7	8			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:4976057T>G	ENST00000380371.1	-	1	886	c.887A>C	c.(886-888)aAa>aCa	p.K296T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTTTAGTTTTTACACAATA	0.388													6	73					0	0	0	0	G	4976057	T	G	4976057	3	3	223	1	0	0	0	0	1	0	0	0	11157	1841	64	5	56	5	OR51A2	11	4976057	Missense_Mutation	SNP	T	TCGA-CR-7404-01A-11D-2129-08	4417869	4976057	130030459	71	40768											
OR51A2	401667	broad.mit.edu	37	chr11	4976440	4976440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtttttcttgcaatatctCaagcttcttaaagtgaaagg	11	16	8	6	0	3	1	1	1	3	0	4	1	3	1	0	2	2	3	0	2	6	6			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:4976440C>G	ENST00000380371.1	-	1	503	c.504G>C	c.(502-504)ttG>ttC	p.L168F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCAATATCTCAAGCTTCTTA	0.423													41	211					0	0	0	0	G	4976440	C	G	4976440	3	3	223	1	0	0	0	0	1	0	0	0	11157	825	29	2	439	2	OR51A2	11	4976440	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	383	4976440	130030076	72	40769											
TPCN2	219931	broad.mit.edu	37	chr11	68822767	68822767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccgccctgcggcctgaccGagagtgtcgaggtgctctgc	5	7	15	14	4	1	2	0	1	1	1	2	4	1	2	4	2	4	1	4	2	0	0			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:68822767G>A	ENST00000294309.3	+	4	477	c.376G>A	c.(376-378)Gag>Aag	p.E126K	TPCN2_ENST00000542467.1_Missense_Mutation_p.E126K|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	126					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGGCCTGACCGAGAGTGTCGA	0.672													15	59					0	0	0	0	A	68822767	G	A	68822767	3	1	223	1	0	0	0	0	1	0	0	0	16491	1059	37	1	390	1	TPCN2	11	68822767	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	63846327	68822767	66183749	73	40770											
SHANK2	22941	broad.mit.edu	37	chr11	70331427	70331427	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcggacttaccttggagcGaggctggcggacttggctcc	5	8	15	13	4	0	0	0	0	0	0	1	4	1	3	3	6	2	2	3	6	1	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:70331427G>A	ENST00000338508.4	-	32	4973	c.4974C>T	c.(4972-4974)ctC>ctT	p.L1658L	SHANK2_ENST00000449833.2_Silent_p.L1062L|SHANK2_ENST00000423696.2_Silent_p.L1278L|SHANK2_ENST00000409161.1_Silent_p.L1061L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1278					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACCTTGGAGCGAGGCTGGCGG	0.577													10	47					0	0	0	0	A	70331427	G	A	70331427	2	1	223	1	0	0	0	0	0	0	0	1	14353	1045	37	1		1	SHANK2	11	70331427	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08	1508660	70331427	64675089	74	40771											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249246	71249246	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcctgttcctgctccAgctgtggctcctgtgggggc	2	11	14	14	0	0	0	0	0	0	0	3	0	3	0	5	3	4	4	5	3	0	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:71249246A>C	ENST00000398534.3	+	1	176	c.145A>C	c.(145-147)Agc>Cgc	p.S49R		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	49	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TTCCTGCTCCAGCTGTGGCTC	0.682													14	321					0	0	0	0	C	71249246	A	C	71249246	3	2	223	1	0	0	0	0	1	0	0	0	8620	188	7	5	147	5	KRTAP5-8	11	71249246	Missense_Mutation	SNP	A	TCGA-CR-7404-01A-11D-2129-08	917819	71249246	63757270	75	40772											
MAP6	4135	broad.mit.edu	37	chr11	75316987	75316987	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcttgtctttggccttcctCgtgggcttatggctcgctga	2	16	12	11	2	1	1	0	1	1	0	4	1	2	1	2	3	1	4	2	3	1	4	rs139425764	byFrequency	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:75316987C>T	ENST00000434603.2	-	3	1246	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	MAP6_ENST00000526740.1_Silent_p.T65T|MAP6_ENST00000304771.3_Silent_p.T394T	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	394	Calmodulin-binding (By similarity).					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TGGCCTTCCTCGTGGGCTTAT	0.532													14	40					0	0	0	0	T	75316987	C	T	75316987	2	4	223	1	0	0	0	0	0	0	0	1	9333	871	31	1		1	MAP6	11	75316987	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08	4067741	75316987	59689529	76	40773											
EPS8	2059	broad.mit.edu	37	chr12	15800065	15800065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccattaaatgttacctatCtatatggcgattagaagttg	12	14	8	7	1	1	1	0	0	1	1	1	2	1	1	2	1	1	2	2	1	8	7			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:15800065C>T	ENST00000281172.5	-	15	2000	c.1564G>A	c.(1564-1566)Gat>Aat	p.D522N	EPS8_ENST00000540613.1_Missense_Mutation_p.D262N|EPS8_ENST00000543612.1_Missense_Mutation_p.D522N|EPS8_ENST00000543523.1_Missense_Mutation_p.D522N|EPS8_ENST00000542903.1_Missense_Mutation_p.D262N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	522					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TGTTACCTATCTATATGGCGA	0.448													7	74					0	0	0	0	T	15800065	C	T	15800065	3	4	223	1	0	0	0	0	1	0	0	0	5232	913	32	2	932	2	EPS8	12	15800065	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08		15800065	118051830	77	40774											
SYT10	341359	broad.mit.edu	37	chr12	33532834	33532834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatttcattccagtggtctCgcccaagaccctcagcatcc	8	10	7	16	1	3	1	2	0	1	1	6	1	5	1	4	1	1	2	4	1	1	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:33532834C>T	ENST00000228567.3	-	6	1729	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	SYT10_ENST00000535526.1_Missense_Mutation_p.R297Q	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	478						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCAGTGGTCTCGCCCAAGACC	0.458													22	89					0	0	0	0	T	33532834	C	T	33532834	3	4	223	1	0	0	0	0	1	0	0	0	15557	884	31	1	146	1	SYT10	12	33532834	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	17732769	33532834	100319061	78	40775											
NCKAP5L	57701	broad.mit.edu	37	chr12	50186313	50186313	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccggctgccctagtattgggGaaggtccagttcttggccag	6	10	14	11	1	1	0	0	0	1	0	2	1	2	1	4	5	1	3	4	5	3	5			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:50186313G>A	ENST00000335999.6	-	12	3909	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1232	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TAGTATTGGGGAAGGTCCAGT	0.632													5	46					0	0	0	0	A	50186313	G	A	50186313	2	1	223	1	0	0	0	0	0	0	0	1	10294	1165	41	2		2	NCKAP5L	12	50186313	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08	16653479	50186313	83665582	79	40776											
KSR2	283455	broad.mit.edu	37	chr12	117977627	117977627	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgctggcgaggagggCgtggaggacgtcgtggagga	6	5	25	5	4	0	0	0	0	0	0	1	6	0	5	0	9	1	1	0	9	0	0			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:117977627C>T	ENST00000425217.1	-	10	1551	c.1497G>A	c.(1495-1497)acG>acA	p.T499T	KSR2_ENST00000339824.5_Silent_p.T528T|KSR2_ENST00000302438.5_Silent_p.T225T|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	528					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGAGGAGGGCGTGGAGGACG	0.632													11	34					0	0	0	0	T	117977627	C	T	117977627	2	4	223	1	0	0	0	0	0	0	0	1	8635	755	27	1		1	KSR2	12	117977627	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08	67791314	117977627	15874268	80	40777											
DNAH10	196385	broad.mit.edu	37	chr12	124330339	124330339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatgccgctaagcaaaaaCgacaggaaaaaatacaacac	21	3	6	11	2	0	0	0	0	0	0	0	2	0	1	2	1	5	2	2	1	8	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:124330339C>T	ENST00000409039.3	+	30	5224	c.5199C>T	c.(5197-5199)aaC>aaT	p.N1733N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1733	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.N1733N(1)|p.N325N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAAGCAAAAACGACAGGAAAA	0.473													6	75					0	0	0	0	T	124330339	C	T	124330339	2	4	223	1	0	0	0	0	0	0	0	1	4635	535	19	1		1	DNAH10	12	124330339	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08	6352712	124330339	9521556	81	40778											
DDX51	317781	broad.mit.edu	37	chr12	132626474	132626474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactctcagaggtgtggcatCtgtgtagatgttgaaaactt	10	13	12	6	0	2	3	1	1	2	2	3	4	2	3	0	2	1	3	0	2	3	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:132626474C>T	ENST00000397333.3	-	6	954	c.916G>A	c.(916-918)Gat>Aat	p.D306N		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	306	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGTGTGGCATCTGTGTAGATG	0.547													4	34					0	0	0	0	T	132626474	C	T	132626474	3	4	223	1	0	0	0	0	1	0	0	0	4401	913	32	2	1124	2	DDX51	12	132626474	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	8296135	132626474	1225421	82	40779											
FRY	10129	broad.mit.edu	37	chr13	32757152	32757152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatccattaatgaaagaagCtctggaaagaagaccagagg	17	7	10	7	0	2	5	1	1	1	4	3	6	3	6	2	2	1	1	2	2	5	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr13:32757152C>G	ENST00000380250.3	+	24	3531	c.3035C>G	c.(3034-3036)gCt>gGt	p.A1012G		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1012					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATGAAAGAAGCTCTGGAAAGA	0.323													32	34					0	0	0	0	G	32757152	C	G	32757152	3	3	223	1	0	0	0	0	1	0	0	0	6111	797	28	4	3129	4	FRY	13	32757152	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08		32757152	82412726	83	40780											
TRPC4	7223	broad.mit.edu	37	chr13	38320194	38320194	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagttctctggaacttctCgtctgatccagtaggtcctt	6	15	8	12	1	3	1	0	1	3	0	8	2	6	2	3	2	1	2	3	2	2	4	rs115609911	by1000genomes	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr13:38320194C>T	ENST00000379705.3	-	3	1634	c.777G>A	c.(775-777)acG>acA	p.T259T	TRPC4_ENST00000447043.1_Silent_p.T259T|TRPC4_ENST00000358477.2_Silent_p.T259T|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379681.3_Silent_p.T259T|TRPC4_ENST00000379673.2_Silent_p.T259T|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000426868.2_Silent_p.T259T|TRPC4_ENST00000355779.2_Silent_p.T259T			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	259	Multimerization domain (By similarity).				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)		TGGAACTTCTCGTCTGATCCA	0.408													11	115					0	0	0	0	T	38320194	C	T	38320194	2	4	223	1	0	0	0	0	0	0	0	1	16675	871	31	1		1	TRPC4	13	38320194	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08	5563042	38320194	76849684	84	40781											
COL4A1	1282	broad.mit.edu	37	chr13	110827073	110827073	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctctccagggcttcctggGaaacccgctatcccttgatc	6	12	8	15	1	1	1	0	1	1	0	6	2	4	2	4	2	1	2	4	2	2	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr13:110827073G>A	ENST00000375820.4	-	38	3343	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1074	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCTTCCTGGGAAACCCGCTA	0.498													16	180					0	0	0	0	A	110827073	G	A	110827073	2	1	223	1	0	0	0	0	0	0	0	1	3719	1165	41	2		2	COL4A1	13	110827073	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08	72506879	110827073	4342805	85	40782											
TFDP1	7027	broad.mit.edu	37	chr13	114290326	114290326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacctggtgcagagaaaccGgcatgcggagcagcaggcca	12	3	15	11	2	0	1	0	0	0	1	0	4	0	2	3	4	6	4	3	4	2	0			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr13:114290326G>A	ENST00000375370.5	+	9	934	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	TFDP1_ENST00000538138.1_Missense_Mutation_p.R146Q|TFDP1_ENST00000544902.1_Missense_Mutation_p.R146Q	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	241	DCB1.|Dimerization (Potential).|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CAGAGAAACCGGCATGCGGAG	0.587										TSP Lung(29;0.18)			9	70					0	0	0	0	A	114290326	G	A	114290326	3	1	223	1	0	0	0	0	1	0	0	0	15891	1116	39	1	752	1	TFDP1	13	114290326	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	3463253	114290326	879552	86	40783											
PTGER2	5732	broad.mit.edu	37	chr14	52794009	52794009	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagctcttaggtttttatCaattaattcaataattgacc	13	16	4	8	0	3	1	2	1	1	0	3	1	3	1	2	1	1	2	2	1	7	8			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:52794009C>G	ENST00000245457.5	+	2	1068	c.914C>G	c.(913-915)tCa>tGa	p.S305*	PTGER2_ENST00000557436.1_Nonsense_Mutation_p.S50*	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	305						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	AGGTTTTTATCAATTAATTCA	0.388													13	47					0	0	0	0	G	52794009	C	G	52794009	4	3	223	1	0	0	0	0	0	1	0	0	12823	838	29	2	920	2	PTGER2	14	52794009	Nonsense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08		52794009	54555531	87	40784											
SYNE2	23224	broad.mit.edu	37	chr14	64691756	64691756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaggcgaggaggagacaGagagcaggtaacggggcttt	13	4	18	6	2	0	3	0	0	0	3	0	7	0	4	0	6	2	3	0	6	2	2	rs146398606	byFrequency	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:64691756G>A	ENST00000357395.3	+	115	20742	c.9598G>A	c.(9598-9600)Gag>Aag	p.E3200K	SYNE2_ENST00000344113.4_Missense_Mutation_p.E6815K|SYNE2_ENST00000458046.2_Missense_Mutation_p.E486K|SYNE2_ENST00000555022.1_Missense_Mutation_p.E693K|SYNE2_ENST00000554805.1_Missense_Mutation_p.E598K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3471K|SYNE2_ENST00000441438.2_Missense_Mutation_p.E359K|SYNE2_ENST00000554584.1_Missense_Mutation_p.R6735K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E3200K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6837K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6815					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGAGGAGACAGAGAGCAGGTA	0.488													7	22					0	0	0	0	A	64691756	G	A	64691756	3	1	223	1	0	0	0	0	1	0	0	0	15537	943	33	2	21008	2	SYNE2	14	64691756	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	11897747	64691756	42657784	88	40785											
GTF2A1	2957	broad.mit.edu	37	chr14	81659171	81659171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgaaatccctccaggaaGaggagccagcacctaaagca	14	5	11	11	0	0	2	0	1	0	1	2	4	2	4	4	3	3	2	4	3	4	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:81659171G>A	ENST00000553612.1	-	7	1028	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F	GTF2A1_ENST00000434192.2_Missense_Mutation_p.L170F	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	209					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		CCTCCAGGAAGAGGAGCCAGC	0.413													7	137					0	0	0	0	A	81659171	G	A	81659171	3	1	223	1	0	0	0	0	1	0	0	0	6902	942	33	2	517	2	GTF2A1	14	81659171	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	16967415	81659171	25690369	89	40786											
KCNK13	56659	broad.mit.edu	37	chr14	90650623	90650623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcggcagctccggagacGaggggccctgccccaggaga	8	2	16	15	3	0	2	0	0	0	2	1	5	1	2	5	5	3	2	5	5	0	0			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:90650623G>A	ENST00000282146.4	+	2	944	c.503G>A	c.(502-504)cGa>cAa	p.R168Q		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	168						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTCCGGAGACGAGGGGCCCTG	0.607													22	77					0	0	0	0	A	90650623	G	A	90650623	3	1	223	1	0	0	0	0	1	0	0	0	8114	1058	37	1	509	1	KCNK13	14	90650623	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	8991452	90650623	16698917	90	40787											
CHGA	1113	broad.mit.edu	37	chr14	93397717	93397717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctcccggagcccatgcagGagtccaaggctgaggggaac	9	4	14	14	1	0	1	0	1	0	0	2	4	2	4	4	5	3	2	4	5	2	0			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:93397717G>A	ENST00000216492.5	+	6	758	c.478G>A	c.(478-480)Gag>Aag	p.E160K	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	160					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GCCCATGCAGGAGTCCAAGGC	0.617													4	20					0	0	0	0	A	93397717	G	A	93397717	3	1	223	1	0	0	0	0	1	0	0	0	3367	1175	41	2	500	2	CHGA	14	93397717	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	2747094	93397717	13951823	91	40788											
B2M	567	broad.mit.edu	37	chr15	45007775	45007775	+	Frame_Shift_Del	DEL	G	G	-																															aaagtggagcattcagacttGtctttcagcaaggactggtc																										TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr15:45007775delG	ENST00000558401.1	+	2	292	c.222delG	c.(220-222)ttfs	p.L74fs	B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Frame_Shift_Del_p.L74fs|B2M_ENST00000559916.1_Frame_Shift_Del_p.L74fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	74	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ATTCAGACTTGTCTTTCAGCA	0.418													8	131	---	---	---	---					-	45007775	G	-	45007775	7	5	223	1	0	1	0	1	0	0	0	0	1248	1368	48	0	228	0	B2M	15	45007775	Frame_Shift_Del	DEL	G	TCGA-CR-7404-01A-11D-2129-08		45007775	57523617	92	40789											
ACSBG1	23205	broad.mit.edu	37	chr15	78465941	78465941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaaaaacctacccaactCtccacccgaaatggagaagt	17	5	7	12	1	1	1	0	0	1	1	2	4	1	2	4	2	3	0	4	2	7	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr15:78465941C>G	ENST00000258873.4	-	13	2288	c.2083G>C	c.(2083-2085)Gag>Cag	p.E695Q	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E453Q|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E453Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	695					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTACCCAACTCTCCACCCGAA	0.587													8	43					0	0	0	0	G	78465941	C	G	78465941	3	3	223	1	0	0	0	0	1	0	0	0	173	922	32	2	99	2	ACSBG1	15	78465941	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	33458166	78465941	24065451	93	40790											
ZNF592	9640	broad.mit.edu	37	chr15	85328024	85328024	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacccagaccctgtgaggctCatccggtactcaatcaagtg	10	9	9	13	1	3	2	3	1	0	1	4	2	4	2	3	2	2	2	3	2	4	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr15:85328024C>T	ENST00000299927.3	+	1	2140	c.2118C>T	c.(2116-2118)ctC>ctT	p.L706L	ZNF592_ENST00000560079.2_Silent_p.L706L			Q92610	ZN592_HUMAN	zinc finger protein 592	706					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTGTGAGGCTCATCCGGTACT	0.582													7	70					0	0	0	0	T	85328024	C	T	85328024	2	4	223	1	0	0	0	0	0	0	0	1	18117	813	29	2		2	ZNF592	15	85328024	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08	6862083	85328024	17203368	94	40791											
C16orf91	283951	broad.mit.edu	37	chr16	1470057	1470057	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gacatcaagagccaggcgagGagcagtttccgatctgctga	11	7	13	10	2	2	2	1	1	1	1	3	6	3	3	2	2	3	3	2	2	1	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:1470057G>C	ENST00000310355.1	-	5	957	c.958C>G	c.(958-960)Cct>Gct	p.P320A	C16orf91_ENST00000563974.1_3'UTR|C16orf91_ENST00000442039.2_3'UTR			Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GCCAGGCGAGGAGCAGTTTCC	0.537													31	74					0	0	0	0	C	1470057	G	C	1470057	3	2	223	1	0	0	0	0	1	0	0	0	1857	1174	41	2	114	2	C16orf91	16	1470057	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08		1470057	88884696	95	40792											
C16orf91	283951	broad.mit.edu	37	chr16	1470388	1470388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccagatgatcagcgccacGaggaagcagctgaggggcag	12	3	15	11	2	1	3	1	2	0	1	1	5	1	4	2	3	3	3	2	3	1	0			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:1470388G>A	ENST00000310355.1	-	4	728	c.729C>T	c.(727-729)ctC>ctT	p.L243L	C16orf91_ENST00000563974.1_Silent_p.L19L|C16orf91_ENST00000442039.2_Silent_p.L86L			Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	86						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TCAGCGCCACGAGGAAGCAGC	0.632													15	74					0	0	0	0	A	1470388	G	A	1470388	2	1	223	1	0	0	0	0	0	0	0	1	1857	1045	37	1		1	C16orf91	16	1470388	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08	331	1470388	88884365	96	40793											
COQ7	10229	broad.mit.edu	37	chr16	19085308	19085308	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgatggttacgttcagggtCcggccaacagttctgatgcc	7	12	12	10	2	2	2	1	2	1	0	3	2	3	2	3	3	3	3	3	3	2	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:19085308C>G	ENST00000321998.5	+	3	384	c.318C>G	c.(316-318)gtC>gtG	p.V106V	COQ7_ENST00000569127.1_Silent_p.V83V|COQ7_ENST00000544894.2_Silent_p.V68V|COQ7_ENST00000568985.1_Silent_p.V106V	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	106	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						CGTTCAGGGTCCGGCCAACAG	0.438													5	23					0	0	0	0	G	19085308	C	G	19085308	2	3	223	1	0	0	0	0	0	0	0	1	3780	842	30	2		2	COQ7	16	19085308	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08	17614920	19085308	71269445	97	40794											
TMC5	79838	broad.mit.edu	37	chr16	19505660	19505660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaaagcaaaccccagctCacttgttctggaaaggagag	15	6	11	9	0	2	2	1	0	1	2	2	5	2	3	2	2	3	3	2	2	4	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:19505660C>T	ENST00000396229.2	+	20	3652	c.2903C>T	c.(2902-2904)tCa>tTa	p.S968L	TMC5_ENST00000219821.5_Missense_Mutation_p.S722L|TMC5_ENST00000381414.4_Missense_Mutation_p.S910L|TMC5_ENST00000564959.1_Missense_Mutation_p.S651L|TMC5_ENST00000542583.2_Missense_Mutation_p.S968L|TMC5_ENST00000541464.1_Missense_Mutation_p.S916L|TMC5_ENST00000561503.1_Missense_Mutation_p.S609L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	968						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AACCCCAGCTCACTTGTTCTG	0.488													23	116					0	0	0	0	T	19505660	C	T	19505660	3	4	223	1	0	0	0	0	1	0	0	0	16082	838	29	2	3287	2	TMC5	16	19505660	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	420352	19505660	70849093	98	40795											
ATXN2L	11273	broad.mit.edu	37	chr16	28843600	28843600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcttcctgtccagagcctCccatcggctcggcagtgcca	6	8	10	17	2	0	1	0	0	0	1	5	1	3	1	5	2	3	3	5	2	0	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:28843600C>T	ENST00000336783.4	+	11	1563	c.1396C>T	c.(1396-1398)Ccc>Tcc	p.P466S	ATXN2L_ENST00000570200.1_Missense_Mutation_p.P466S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P466S|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P466S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P466S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P466S|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P472S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	466						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCAGAGCCTCCCATCGGCTC	0.587													10	53					0	0	0	0	T	28843600	C	T	28843600	3	4	223	1	0	0	0	0	1	0	0	0	1216	855	30	2	1438	2	ATXN2L	16	28843600	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	9337940	28843600	61511153	99	40796											
SETD1A	9739	broad.mit.edu	37	chr16	30990939	30990939	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcctgctgttgaagactcaGaggccacagagacatcggac	11	7	12	11	1	1	4	1	1	0	3	2	6	1	5	2	2	2	2	2	2	1	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:30990939G>C	ENST00000262519.8	+	14	4518	c.3832G>C	c.(3832-3834)Gag>Cag	p.E1278Q		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TGAAGACTCAGAGGCCACAGA	0.701													6	21					0	0	0	0	C	30990939	G	C	30990939	3	2	223	1	0	0	0	0	1	0	0	0	14217	943	33	2	3882	2	SETD1A	16	30990939	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	2147339	30990939	59363814	100	40797											
ZNF423	23090	broad.mit.edu	37	chr16	49672148	49672148	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgagcagtgtgttctcgtcGacgaagacctcagggcagtg	8	8	15	10	4	2	1	1	0	1	1	4	4	2	1	1	1	1	3	1	1	1	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:49672148G>A	ENST00000561648.1	-	4	968	c.915C>T	c.(913-915)gtC>gtT	p.V305V	ZNF423_ENST00000567169.1_Silent_p.V188V|ZNF423_ENST00000563137.2_Silent_p.V245V|ZNF423_ENST00000562871.1_Silent_p.V245V|ZNF423_ENST00000535559.1_Silent_p.V188V|ZNF423_ENST00000262383.2_Silent_p.V305V|ZNF423_ENST00000562520.1_Silent_p.V245V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	305					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGTTCTCGTCGACGAAGACCT	0.607													10	31					0	0	0	0	A	49672148	G	A	49672148	2	1	223	1	0	0	0	0	0	0	0	1	17993	1045	37	1		1	ZNF423	16	49672148	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08	18681209	49672148	40682605	101	40798											
PER1	5187	broad.mit.edu	37	chr17	8045157	8045157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaggcagttggcccttcCggacccaggagtgcacagca	8	5	13	15	2	0	0	0	0	0	0	1	3	1	2	4	4	2	4	4	4	0	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:8045157C>T	ENST00000317276.4	-	22	3803	c.3566G>A	c.(3565-3567)cGg>cAg	p.R1189Q	PER1_ENST00000581082.1_Missense_Mutation_p.R1166Q	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1189	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGGCCCTTCCGGACCCAGGA	0.577			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					20	116					0	0	0	0	T	8045157	C	T	8045157	3	4	223	1	0	0	0	0	1	0	0	0	11800	652	23	1	314	1	PER1	17	8045157	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08		8045157	73150053	102	40799											
MYO15A	51168	broad.mit.edu	37	chr17	18025472	18025472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttttgctgtggtcatgcctCgtgtgcagaagctgagctct	5	14	13	9	1	2	2	1	1	1	1	3	2	2	2	1	1	5	5	1	1	1	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:18025472C>T	ENST00000205890.5	+	2	3696	c.3358C>T	c.(3358-3360)Cgt>Tgt	p.R1120C		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1120	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGTCATGCCTCGTGTGCAGAA	0.652													12	44					0	0	0	0	T	18025472	C	T	18025472	3	4	223	1	0	0	0	0	1	0	0	0	10133	884	31	1	3360	1	MYO15A	17	18025472	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	9980315	18025472	63169738	103	40800											
SEZ6	124925	broad.mit.edu	37	chr17	27286455	27286455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgggagagagtaccaCgccagccgagtctgtgatct	9	8	13	11	2	2	2	0	1	2	1	2	5	2	3	4	1	2	2	4	1	1	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:27286455C>T	ENST00000317338.12	-	9	2235	c.1807G>A	c.(1807-1809)Gtg>Atg	p.V603M	SEZ6_ENST00000442608.3_Missense_Mutation_p.V603M|SEZ6_ENST00000360295.9_Missense_Mutation_p.V603M|SEZ6_ENST00000335960.6_Intron|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	603	CUB 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GAGAGTACCACGCCAGCCGAG	0.587													13	42					0	0	0	0	T	27286455	C	T	27286455	3	4	223	1	0	0	0	0	1	0	0	0	14229	536	19	1	1226	1	SEZ6	17	27286455	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	9260983	27286455	53908755	104	40801											
STAT5A	6776	broad.mit.edu	37	chr17	40458324	40458324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgtgaggcgctcaacatGaaattcaaggccgaagtgca	12	8	12	9	2	2	2	2	2	0	0	2	3	2	2	1	2	2	2	1	2	4	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:40458324G>A	ENST00000345506.4	+	14	2181	c.1539G>A	c.(1537-1539)atG>atA	p.M513I	STAT5A_ENST00000587646.1_Start_Codon_SNP_p.M1I|STAT5A_ENST00000546010.2_Missense_Mutation_p.M483I|STAT5A_ENST00000590949.1_Missense_Mutation_p.M513I|STAT5A_ENST00000452307.2_Missense_Mutation_p.M513I|STAT5A_ENST00000588868.1_Missense_Mutation_p.M482I	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	513					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CGCTCAACATGAAATTCAAGG	0.572													12	65					0	0	0	0	A	40458324	G	A	40458324	3	1	223	1	0	0	0	0	1	0	0	0	15358	1290	45	2	1585	2	STAT5A	17	40458324	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	13171869	40458324	40736886	105	40802											
BRCA1	672	broad.mit.edu	37	chr17	41243826	41243826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacggtgctatgcctagtaGactgagaaggtatattgttt	11	13	11	6	1	0	2	0	1	0	2	0	3	0	2	1	2	3	4	1	2	7	7	rs80357143		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:41243826G>A	ENST00000309486.4	-	9	3861	c.2834C>T	c.(2833-2835)tCt>tTt	p.S945F	BRCA1_ENST00000357654.3_Missense_Mutation_p.S1241F|BRCA1_ENST00000493795.1_Missense_Mutation_p.S1194F|BRCA1_ENST00000346315.3_Missense_Mutation_p.S1241F|BRCA1_ENST00000354071.3_Missense_Mutation_p.S1241F|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.S1241F	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1241					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATGCCTAGTAGACTGAGAAGG	0.388			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			6	116					0	0	0	0	A	41243826	G	A	41243826	3	1	223	1	0	0	0	0	1	0	0	0	1506	942	33	2	1995	2	BRCA1	17	41243826	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	785502	41243826	39951384	106	40803											
BRCA1	672	broad.mit.edu	37	chr17	41245102	41245102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attatctttggaacaaccatGaattagtcccttggggtttt	10	16	8	7	0	1	1	0	1	1	0	2	2	2	2	2	3	2	1	2	3	5	6			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:41245102G>A	ENST00000309486.4	-	9	2585	c.1558C>T	c.(1558-1560)Cat>Tat	p.H520Y	BRCA1_ENST00000357654.3_Missense_Mutation_p.H816Y|BRCA1_ENST00000493795.1_Missense_Mutation_p.H769Y|BRCA1_ENST00000346315.3_Missense_Mutation_p.H816Y|BRCA1_ENST00000354071.3_Missense_Mutation_p.H816Y|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.H816Y	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	816					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.H816fs*3(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAACAACCATGAATTAGTCCC	0.398			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			14	248					0	0	0	0	A	41245102	G	A	41245102	3	1	223	1	0	0	0	0	1	0	0	0	1506	1290	45	2	3271	2	BRCA1	17	41245102	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	1276	41245102	39950108	107	40804											
ZNF750	79755	broad.mit.edu	37	chr17	80790043	80790044	+	Frame_Shift_Del	DEL	AG	AG	-																															tgaagcttcgagtcgaaggcAgagagtccatttgcgacaga																										TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:80790043_80790044delAG	ENST00000269394.3	-	2	1120_1121	c.287_288delCT	c.(286-288)tfs	p.S96fs	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	96						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTCGAAGGCAGAGAGTCCATT	0.574													11	66	---	---	---	---					-	80790044	AG	-	80790043	7	5	223	1	0	1	0	1	0	0	0	0	18226	175	7	0	1891	0	ZNF750	17	80790043	Frame_Shift_Del	DEL	AG	TCGA-CR-7404-01A-11D-2129-08	39544941	80790043	405167	108	40805											
CCDC11	220136	broad.mit.edu	37	chr18	47765019	47765019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttaagttctttaagactttCatttatgtgtttctgttcca	8	21	6	6	0	3	1	1	0	2	1	4	1	4	1	1	0	0	4	1	0	3	9			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr18:47765019C>T	ENST00000398545.4	-	7	1387	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	424										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTAAGACTTTCATTTATGTGT	0.328													9	33					0	0	0	0	T	47765019	C	T	47765019	3	4	223	1	0	0	0	0	1	0	0	0	2771	835	29	2	282	2	CCDC11	18	47765019	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08		47765019	30312229	109	40806											
MIER2	54531	broad.mit.edu	37	chr19	327204	327204	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaggtcgtcagcagatGattgcgtctcttcctcttct	5	14	12	10	2	4	3	1	2	3	1	7	3	5	3	1	2	2	1	1	2	0	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:327204G>T	ENST00000264819.4	-	5	432	c.422C>A	c.(421-423)tCa>tAa	p.S141*		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GTCAGCAGATGATTGCGTCTC	0.468													12	216					3.07112e-06	3.33329e-06	1	0	T	327204	G	T	327204	4	4	223	1	0	0	0	0	0	1	0	0	9650	1294	45	2	1255	2	MIER2	19	327204	Nonsense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08		327204	58801779	110	40807											
MPND	84954	broad.mit.edu	37	chr19	4359198	4359198	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacaagggttcccctgacctCgtgaggctccaggaaccctg	8	8	11	14	1	0	2	0	2	0	0	3	3	2	3	5	3	2	2	5	3	3	2	rs141733787	by1000genomes	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:4359198C>T	ENST00000599840.1	+	12	1400	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	MPND_ENST00000359935.4_Silent_p.L405L|MPND_ENST00000262966.8_Silent_p.L425L			Q8N594	MPND_HUMAN	MPN domain containing	425							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCTGACCTCGTGAGGCTCC	0.622													10	55					0	0	0	0	T	4359198	C	T	4359198	2	4	223	1	0	0	0	0	0	0	0	1	9801	871	31	1		1	MPND	19	4359198	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08	4031994	4359198	54769785	111	40808											
ZNF98	148198	broad.mit.edu	37	chr19	22575483	22575483	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaatgacttttcacattctTtacacttgaaagatttcttt	13	18	3	7	0	3	3	1	2	2	1	3	3	3	3	0	0	1	0	0	0	4	8			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:22575483T>C	ENST00000357774.5	-	4	675	c.554A>G	c.(553-555)aAa>aGa	p.K185R		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTCACATTCTTTACACTTGAA	0.303													2	8					0	0	0	0	C	22575483	T	C	22575483	3	2	223	1	0	0	0	0	1	0	0	0	18296	1841	64	5	1168	5	ZNF98	19	22575483	Missense_Mutation	SNP	T	TCGA-CR-7404-01A-11D-2129-08	18216285	22575483	36553500	112	40809											
PVRL2	5819	broad.mit.edu	37	chr19	45375325	45375325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgccctcgggccgagcaGatggtgtcacggtcacctgc	5	8	15	13	3	2	1	2	0	0	1	3	2	2	1	3	4	3	1	3	4	0	0			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:45375325G>A	ENST00000252483.5	+	3	694	c.694G>A	c.(694-696)Gat>Aat	p.D232N	PVRL2_ENST00000252485.4_Missense_Mutation_p.D232N	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	232	Ig-like C2-type 1.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GGGCCGAGCAGATGGTGTCAC	0.597													5	63					0	0	0	0	A	45375325	G	A	45375325	3	1	223	1	0	0	0	0	1	0	0	0	12922	942	33	2	704	2	PVRL2	19	45375325	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	22799842	45375325	13753658	113	40810											
NLRP12	91662	broad.mit.edu	37	chr19	54313983	54313983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctcctcccagcagaggcaCcagggtccctgaggatcgtg	7	8	12	14	1	1	2	0	1	1	1	5	3	3	3	4	3	1	2	4	3	0	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:54313983C>A	ENST00000324134.6	-	3	1098	c.930G>T	c.(928-930)tgG>tgT	p.W310C	NLRP12_ENST00000391773.1_Missense_Mutation_p.W310C|NLRP12_ENST00000351894.4_Missense_Mutation_p.W310C|NLRP12_ENST00000391772.1_Missense_Mutation_p.W310C|NLRP12_ENST00000535162.1_Missense_Mutation_p.W310C|NLRP12_ENST00000345770.5_Missense_Mutation_p.W310C|NLRP12_ENST00000354278.3_Missense_Mutation_p.W310C|NLRP12_ENST00000391775.3_Missense_Mutation_p.W310C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	310	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.W310*(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCAGAGGCACCAGGGTCCCT	0.572													6	57					3.59834e-05	3.88184e-05	1	0	A	54313983	C	A	54313983	3	1	223	1	0	0	0	0	1	0	0	0	10544	508	18	4	2383	4	NLRP12	19	54313983	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	8938658	54313983	4815000	114	40811											
PEG3	5178	broad.mit.edu	37	chr19	57335885	57335885	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattaggttccgaaacctctGatgaaaaaactcagagtcag	15	9	9	8	1	3	3	2	2	1	1	4	5	4	3	2	1	2	1	2	1	5	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:57335885G>C	ENST00000326441.9	-	4	502	c.139C>G	c.(139-141)Cag>Gag	p.Q47E	PEG3_ENST00000594706.1_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q47E|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	47	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGAAACCTCTGATGAAAAAAC	0.502													14	51					0	0	0	0	C	57335885	G	C	57335885	3	2	223	1	0	0	0	0	1	0	0	0	11791	1299	45	2		2	PEG3	19	57335885	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	3021902	57335885	1793098	115	40812											
ZNF547	284306	broad.mit.edu	37	chr19	57889020	57889020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcctttctttgtaagtctCaccttgttcgtcaccagaca	9	14	6	12	1	3	1	2	0	2	1	5	1	3	1	3	0	1	2	3	0	2	5			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:57889020C>G	ENST00000282282.3	+	4	826	c.676C>G	c.(676-678)Cac>Gac	p.H226D	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTGTAAGTCTCACCTTGTTCG	0.433													5	84					0	0	0	0	G	57889020	C	G	57889020	3	3	223	1	0	0	0	0	1	0	0	0	18074	826	29	2	686	2	ZNF547	19	57889020	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	553135	57889020	1239963	116	40813											
CSNK2A1	1457	broad.mit.edu	37	chr20	468206	468206	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggacaaagcgttcccatcGctttcgagagtgtctgcagg	8	10	13	10	3	1	1	0	0	1	1	4	3	2	2	1	2	2	3	1	2	1	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:468206G>A	ENST00000217244.3	-	12	1213	c.838C>T	c.(838-840)Cga>Tga	p.R280*	CSNK2A1_ENST00000400217.1_Nonsense_Mutation_p.R144*|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R280*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R280*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	280	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	p.R280*(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CGTTCCCATCGCTTTCGAGAG	0.507													5	61					0	0	0	0	A	468206	G	A	468206	4	1	223	1	0	0	0	0	0	1	0	0	3989	1095	38	1	349	1	CSNK2A1	20	468206	Nonsense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08		468206	62557314	117	40814											
SLC4A11	83959	broad.mit.edu	37	chr20	3209061	3209061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctccggatgtagtgtgtcGgggggtacgcagtctgtggg	4	10	18	9	3	1	0	0	0	1	0	3	1	2	1	2	5	1	3	2	5	2	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:3209061G>A	ENST00000380059.3	-	19	2632	c.2531C>T	c.(2530-2532)cCg>cTg	p.P844L	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.P817L|SLC4A11_ENST00000539553.1_Missense_Mutation_p.P801L	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	817	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTAGTGTGTCGGGGGGTACGC	0.672													16	97					0	0	0	0	A	3209061	G	A	3209061	3	1	223	1	0	0	0	0	1	0	0	0	14740	1116	39	1	233	1	SLC4A11	20	3209061	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	2740855	3209061	59816459	118	40815											
PTPRT	11122	broad.mit.edu	37	chr20	41100954	41100954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgctctccattcggccctCggggttagacagcaagagtc	7	9	11	14	3	1	2	0	0	1	2	6	2	1	2	2	3	1	3	2	3	2	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:41100954C>T	ENST00000373198.3	-	8	1637	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	PTPRT_ENST00000373190.1_Missense_Mutation_p.E468K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E468K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E468K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E468K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E468K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E468K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	468	Fibronectin type-III 2.				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)				ATTCGGCCCTCGGGGTTAGAC	0.592													20	60					0	0	0	0	T	41100954	C	T	41100954	3	4	223	1	0	0	0	0	1	0	0	0	12894	893	31	1	3080	1	PTPRT	20	41100954	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	37891893	41100954	21924566	119	40816											
ELMO2	63916	broad.mit.edu	37	chr20	45000318	45000318	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatctcgggctggatcttCtccctcagctccctggggtg	4	11	13	13	1	4	0	1	0	3	0	7	2	5	2	2	5	1	2	2	5	0	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:45000318C>G	ENST00000372176.1	-	18	1797	c.1329G>C	c.(1327-1329)gaG>gaC	p.E443D	ELMO2_ENST00000290246.6_Missense_Mutation_p.E531D|ELMO2_ENST00000352077.2_Missense_Mutation_p.E529D|ELMO2_ENST00000439931.2_Missense_Mutation_p.E543D|ELMO2_ENST00000445496.2_Missense_Mutation_p.E348D|ELMO2_ENST00000396391.1_Missense_Mutation_p.E531D|ELMO2_ENST00000454865.2_Missense_Mutation_p.E263D			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	531	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GCTGGATCTTCTCCCTCAGCT	0.617													8	37					0	0	0	0	G	45000318	C	G	45000318	3	3	223	1	0	0	0	0	1	0	0	0	5104	912	32	2	589	2	ELMO2	20	45000318	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	3899364	45000318	18025202	120	40817											
PREX1	57580	broad.mit.edu	37	chr20	47274751	47274751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgtcaaagccatagtcctCctcctggggcaggatctggg	8	9	13	11	0	2	0	1	0	1	0	5	2	5	1	4	4	1	1	4	4	2	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:47274751C>T	ENST00000396220.1	-	17	1919	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	PREX1_ENST00000371941.3_Missense_Mutation_p.E633K			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	633	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCATAGTCCTCCTCCTGGGGC	0.672											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	206					0	0	0	0	T	47274751	C	T	47274751	3	4	223	1	0	0	0	0	1	0	0	0	12556	864	30	2	3178	2	PREX1	20	47274751	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	2274433	47274751	15750769	121	40818											
MYT1	4661	broad.mit.edu	37	chr20	62839693	62839693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggggaaacctgggcctcctgGagcaggccatcgccctgaag	8	5	15	13	1	0	1	0	1	0	0	2	3	1	3	5	5	2	1	5	5	2	0			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:62839693G>C	ENST00000536311.1	+	7	1508	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.E382Q			Q01538	MYT1_HUMAN	myelin transcription factor 1	382					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGGCCTCCTGGAGCAGGCCAT	0.647													11	50					0	0	0	0	C	62839693	G	C	62839693	3	2	223	1	0	0	0	0	1	0	0	0	10176	1175	41	2	1162	2	MYT1	20	62839693	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	15564942	62839693	185827	122	40819											
PKNOX1	5316	broad.mit.edu	37	chr21	44450050	44450050	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatgaacgtggacagccttCagtctctgtcctcggacggg	8	9	12	12	3	2	1	1	1	1	0	5	3	3	3	2	3	2	0	2	3	1	1			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr21:44450050C>T	ENST00000291547.5	+	11	1361	c.1150C>T	c.(1150-1152)Cag>Tag	p.Q384*	PKNOX1_ENST00000432907.2_Nonsense_Mutation_p.Q267*	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	384							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GGACAGCCTTCAGTCTCTGTC	0.567													18	87					0	0	0	0	T	44450050	C	T	44450050	4	4	223	1	0	0	0	0	0	1	0	0	12054	827	29	2	1188	2	PKNOX1	21	44450050	Nonsense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08		44450050	3679845	123	40820											
MN1	4330	broad.mit.edu	37	chr22	28193511	28193511	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccttcccccaggatggCgacgtgagcgccttttcgtg	4	9	12	16	4	0	1	0	1	0	0	2	3	1	2	5	2	1	0	5	2	0	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr22:28193511C>T	ENST00000302326.4	-	1	3975	c.3021G>A	c.(3019-3021)tcG>tcA	p.S1007S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1007							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCCAGGATGGCGACGTGAGCG	0.697			T	ETV6	"AML, meningioma"								15	58					0	0	0	0	T	28193511	C	T	28193511	2	4	223	1	0	0	0	0	0	0	0	1	9743	755	27	1		1	MN1	22	28193511	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08		28193511	23111055	124	40821											
RFPL2	10739	broad.mit.edu	37	chr22	32589186	32589186	+	Frame_Shift_Del	DEL	G	G	-																															tgcagccatgtccactgccaGgggaaaagtacacaaggtaa																										TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr22:32589186delG	ENST00000248980.4	-	1	280	c.76delC	c.(76-78)tgfs	p.L26fs	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Intron|RFPL2_ENST00000400237.1_Intron|RFPL2_ENST00000248983.4_Intron	NM_006605.3	NP_006596.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	0							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TCCACTGCCAGGGGAAAAGTA	0.473													9	82	---	---	---	---					-	32589186	G	-	32589186	7	5	223	1	0	1	0	1	0	0	0	0	13336	991	35	0	885	0	RFPL2	22	32589186	Frame_Shift_Del	DEL	G	TCGA-CR-7404-01A-11D-2129-08	4395675	32589186	18715380	125	40822											
EGFL6	25975	broad.mit.edu	37	chrX	13645320	13645320	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaatgccctggcatgggaGaagaccacgagtgaggatga	14	5	14	8	1	0	4	0	2	0	2	0	7	0	5	2	3	2	1	2	3	3	0			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:13645320G>A	ENST00000361306.1	+	11	1733	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	EGFL6_ENST00000380602.3_Silent_p.E493E	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	492	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TGGCATGGGAGAAGACCACGA	0.433													6	58					0	0	0	0	A	13645320	G	A	13645320	2	1	223	1	0	0	0	0	0	0	0	1	4999	933	33	2		2	EGFL6	23	13645320	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08		13645320	141625240	126	40823											
ZMYM3	9203	broad.mit.edu	37	chrX	70470533	70470533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaaagtcctcatcattGgggtcatctaccatggcatc	10	10	9	12	0	4	0	3	0	1	0	6	0	5	0	2	4	1	2	2	4	2	2			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:70470533G>A	ENST00000373998.1	-	5	1519	c.822C>T	c.(820-822)ccC>ccT	p.P274P	ZMYM3_ENST00000373982.1_Silent_p.P276P|ZMYM3_ENST00000314425.5_Silent_p.P274P|ZMYM3_ENST00000373981.1_Silent_p.P274P|ZMYM3_ENST00000373988.1_Silent_p.P276P|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000353904.2_Silent_p.P274P|ZMYM3_ENST00000373984.3_Silent_p.P276P	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	274					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCTCATCATTGGGGTCATCTA	0.572													4	3					0	0	0	0	A	70470533	G	A	70470533	2	1	223	1	0	0	0	0	0	0	0	1	17796	1335	47	4		4	ZMYM3	23	70470533	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08	56825213	70470533	84800027	127	40824											
PCDH19	57526	broad.mit.edu	37	chrX	99657583	99657583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggcccctggctgttgaaaGagtgatggtagatgtggtta	8	11	17	5	0	0	4	0	2	0	2	0	4	0	4	2	5	0	4	2	5	3	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:99657583G>C	ENST00000373034.4	-	3	4230	c.2555C>G	c.(2554-2556)tCt>tGt	p.S852C	PCDH19_ENST00000420881.2_Missense_Mutation_p.S805C|PCDH19_ENST00000255531.7_Missense_Mutation_p.S805C	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	852					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCTGTTGAAAGAGTGATGGTA	0.577													3	9					0	0	0	0	C	99657583	G	C	99657583	3	2	223	1	0	0	0	0	1	0	0	0	11585	942	33	2	907	2	PCDH19	23	99657583	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	29187050	99657583	55612977	128	40825											
BEX4	56271	broad.mit.edu	37	chrX	102471381	102471381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actagggaacagcagatgagGcactatatgcgcttccaaac	14	7	10	10	1	0	2	0	1	0	1	1	3	1	3	1	2	4	3	1	2	5	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:102471381G>A	ENST00000372695.5	+	3	535	c.300G>A	c.(298-300)agG>agA	p.R100R	BEX4_ENST00000372691.3_Silent_p.R100R	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	100						cytoplasm|nucleus				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						AGCAGATGAGGCACTATATGC	0.418													6	59					0	0	0	0	A	102471381	G	A	102471381	2	1	223	1	0	0	0	0	0	0	0	1	1417	1194	42	4		4	BEX4	23	102471381	Silent	SNP	G	TCGA-CR-7404-01A-11D-2129-08	2813798	102471381	52799179	129	40826											
GUCY2F	2986	broad.mit.edu	37	chrX	108691319	108691319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttactgccaaagtggggattGataaacgttacatcctccaa	13	11	8	9	1	0	1	0	1	0	0	2	2	2	2	3	2	4	1	3	2	6	4			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:108691319G>C	ENST00000218006.2	-	6	1839	c.1548C>G	c.(1546-1548)atC>atG	p.I516M		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	516					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGTGGGGATTGATAAACGTTA	0.413													14	24					0	0	0	0	C	108691319	G	C	108691319	3	2	223	1	0	0	0	0	1	0	0	0	6948	1280	45	2	1834	2	GUCY2F	23	108691319	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	6219938	108691319	46579241	130	40827											
PGRMC1	10857	broad.mit.edu	37	chrX	118370416	118370416	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagattttcacgtcgccgctCaacctgctgctgcttggcct	5	12	10	14	3	2	1	2	0	0	1	3	2	2	1	3	1	4	4	3	1	1	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:118370416C>T	ENST00000217971.7	+	1	201	c.90C>T	c.(88-90)ctC>ctT	p.L30L	PGRMC1_ENST00000535419.1_Silent_p.L30L	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	30						cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						CGTCGCCGCTCAACCTGCTGC	0.667													11	4					0	0	0	0	T	118370416	C	T	118370416	2	4	223	1	0	0	0	0	0	0	0	1	11878	813	29	2		2	PGRMC1	23	118370416	Silent	SNP	C	TCGA-CR-7404-01A-11D-2129-08	9679097	118370416	36900144	131	40828											
CXorf66	347487	broad.mit.edu	37	chrX	139038791	139038791	+	Missense_Mutation	SNP	T	T	A																															tcgatgaatcagatgacttgTctgcagtagatagcatgggt																										TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:139038791T>A	ENST00000370540.1	-	3	373	c.350A>T	c.(349-351)gAc>gTc	p.D117V		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	117	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						AGATGACTTGTCTGCAGTAGA	0.438													10	60					0	0	0	0	A	139038791	T	A	139038791	3	1	223	1	0	0	0	0	1	0	0	0	4150	1667	58	5	739	5	CXorf66	23	139038791	Missense_Mutation	SNP	T	TCGA-CR-7404-01A-11D-2129-08	20668375	139038791	16231769	132	40829	310	2									
CXorf66	347487	broad.mit.edu	37	chrX	139038792	139038792	+	Missense_Mutation	SNP	C	C	A																															cgatgaatcagatgacttgtCtgcagtagatagcatgggtt																										TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:139038792C>A	ENST00000370540.1	-	3	372	c.349G>T	c.(349-351)Gac>Tac	p.D117Y		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	117	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GATGACTTGTCTGCAGTAGAT	0.438													10	62					2.80697e-09	3.08421e-09	1	0	A	139038792	C	A	139038792	3	1	223	1	0	0	0	0	1	0	0	0	4150	913	32	2	740	2	CXorf66	23	139038792	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	1	139038792	16231768	133	40830	310	2									
SLITRK4	139065	broad.mit.edu	37	chrX	142716823	142716823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtttctgactctttcaagCcacaagtgtggctcttgctc	7	14	8	12	0	4	1	1	1	3	0	5	1	4	1	1	1	2	3	1	1	2	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:142716823C>A	ENST00000381779.4	-	2	2327	c.2102G>T	c.(2101-2103)gGc>gTc	p.G701V	SLITRK4_ENST00000356928.1_Missense_Mutation_p.G701V|SLITRK4_ENST00000338017.4_Missense_Mutation_p.G701V	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	701						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)					CTCTTTCAAGCCACAAGTGTG	0.403													22	67					2.89027e-11	3.19545e-11	1	0	A	142716823	C	A	142716823	3	1	223	1	0	0	0	0	1	0	0	0	14833	739	26	4	415	4	SLITRK4	23	142716823	Missense_Mutation	SNP	C	TCGA-CR-7404-01A-11D-2129-08	3678031	142716823	12553737	134	40831											
PLXNB3	5365	broad.mit.edu	37	chrX	153043515	153043515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcgcccagaccttcattGactcctgtaccacctcggag	8	10	7	16	2	2	2	2	1	0	1	5	3	3	3	5	1	1	1	5	1	1	3			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:153043515G>A	ENST00000538966.1	+	33	5714	c.5443G>A	c.(5443-5445)Gac>Aac	p.D1815N	PLXNB3_ENST00000361971.5_Missense_Mutation_p.D1792N|PLXNB3_ENST00000485980.1_3'UTR|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D1445N	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1792					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GACCTTCATTGACTCCTGTAC	0.572													13	18					0	0	0	0	A	153043515	G	A	153043515	3	1	223	1	0	0	0	0	1	0	0	0	12197	1290	45	2	5614	2	PLXNB3	23	153043515	Missense_Mutation	SNP	G	TCGA-CR-7404-01A-11D-2129-08	10326692	153043515	2227045	135	40832											
GRIK3	2899	broad.mit.edu	37	chr1	37337827	37337827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccatagtgtggctgcagtCgaagataatgcggaattccc	10	9	12	10	3	0	1	0	0	0	1	2	3	1	2	2	2	2	2	2	2	4	3	rs143358361		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:37337827C>T	ENST00000373091.3	-	4	710	c.694G>A	c.(694-696)Gac>Aac	p.D232N	GRIK3_ENST00000373093.4_Missense_Mutation_p.D232N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	232					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.D232N(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGGCTGCAGTCGAAGATAATG	0.612													4	22					0	0	0	0	T	37337827	C	T	37337827	3	4	224	1	0	0	0	0	1	0	0	0	6825	884	31	1	2117	1	GRIK3	1	37337827	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08		37337827	211912794	1	40833											
MACF1	23499	broad.mit.edu	37	chr1	39797559	39797559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtcactgtccggttgctgGaagctcagctttttgctggt	5	14	13	9	1	2	0	2	0	0	0	3	1	3	1	1	4	4	5	1	4	1	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:39797559G>A	ENST00000564288.1	+	37	6076	c.5299G>A	c.(5299-5301)Gaa>Aaa	p.E1767K	MACF1_ENST00000567887.1_Missense_Mutation_p.E1804K|MACF1_ENST00000372915.3_Missense_Mutation_p.E1772K|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E207K|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1772					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCGGTTGCTGGAAGCTCAGCT	0.498													11	35					0	0	0	0	A	39797559	G	A	39797559	3	1	224	1	0	0	0	0	1	0	0	0	9209	1175	41	2	5390	2	MACF1	1	39797559	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	2459732	39797559	209453062	2	40834											
FOXE3	2301	broad.mit.edu	37	chr1	47882290	47882290	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccgccatctaccgcttcatCaccgaacgctttgccttcta	7	11	6	17	4	4	0	2	0	2	0	4	1	4	0	5	0	3	2	5	0	3	5			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:47882290C>T	ENST00000335071.2	+	1	547	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	101					cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		ACCGCTTCATCACCGAACGCT	0.667													9	20					0	0	0	0	T	47882290	C	T	47882290	2	4	224	1	0	0	0	0	0	0	0	1	6051	816	29	2		2	FOXE3	1	47882290	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08	8084731	47882290	201368331	3	40835											
WDR47	22911	broad.mit.edu	37	chr1	109554140	109554140	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttagcttcctatcagcaggGatgaattctgcaaccatgac	11	11	8	11	0	2	2	1	2	1	0	3	3	3	3	2	1	4	3	2	1	4	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:109554140G>T	ENST00000357672.3	-	4	819	c.444C>A	c.(442-444)atC>atA	p.I148I	WDR47_ENST00000361054.3_Silent_p.I148I|WDR47_ENST00000369962.3_Silent_p.I176I|WDR47_ENST00000400794.3_Silent_p.I183I|WDR47_ENST00000369965.4_Silent_p.I176I			O94967	WDR47_HUMAN	WD repeat domain 47	176										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TATCAGCAGGGATGAATTCTG	0.443													42	100					6.45866e-13	7.37647e-13	1	0	T	109554140	G	T	109554140	2	4	224	1	0	0	0	0	0	0	0	1	17396	1164	41	2		2	WDR47	1	109554140	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08	61671850	109554140	139696481	4	40836											
CD58	965	broad.mit.edu	37	chr1	117087209	117087209	+	Frame_Shift_Del	DEL	A	A	-																															aacaccatatatttgttgggAaaaacagctgatgaaaccta																										TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:117087209delA	ENST00000457047.2	-	2	141	c.88delT	c.(88-90)ccfs	p.S30fs	CD58_ENST00000369487.3_Frame_Shift_Del_p.S30fs|CD58_ENST00000369489.5_Frame_Shift_Del_p.S30fs	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	30					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		ATTTGTTGGGAAAAACAGCTG	0.343													14	12	---	---	---	---					-	117087209	A	-	117087209	7	5	224	1	0	1	0	1	0	0	0	0	3054	246	9	0	688	0	CD58	1	117087209	Frame_Shift_Del	DEL	A	TCGA-CV-5430-01A-02D-1683-08	7533069	117087209	132163412	5	40837											
PDE4DIP	9659	broad.mit.edu	37	chr1	144994620	144994623	+	Frame_Shift_Del	DEL	CATA	CATA	-																															gatgtcctcccggctggcctCatacttctgttgcatgcgct																								rs149688356	byFrequency	TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:144994620_144994623delCATA	ENST00000369359.4	-	4	558_561	c.520_523delTATG	c.(520-525)agfs	p.YE174fs	PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.YE103fs|PDE4DIP_ENST00000369347.4_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.YE174fs|PDE4DIP_ENST00000369348.3_Frame_Shift_Del_p.YE174fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.YE37fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	37					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGGCTGGCCTCATACTTCTGTTGC	0.608			T	PDGFRB	MPD								9	156	---	---	---	---					-	144994623	CATA	-	144994620	7	5	224	1	0	1	0	1	0	0	0	0	11714	835	29	0	8247	0	PDE4DIP	1	144994620	Frame_Shift_Del	DEL	CATA	TCGA-CV-5430-01A-02D-1683-08	27907411	144994620	104256001	6	40838											
NUP210L	91181	broad.mit.edu	37	chr1	154067493	154067493	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcagccacacttgtgctattCcaatcttctctgtcttctcc	6	15	5	15	0	4	0	0	0	4	0	7	0	5	0	3	0	2	2	3	0	2	5			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:154067493C>G	ENST00000368559.3	-	15	2176	c.2105G>C	c.(2104-2106)gGa>gCa	p.G702A	NUP210L_ENST00000271854.3_Missense_Mutation_p.G702A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	702						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGTGCTATTCCAATCTTCTC	0.443													10	28					0	0	0	0	G	154067493	C	G	154067493	3	3	224	1	0	0	0	0	1	0	0	0	10832	855	30	2	3665	2	NUP210L	1	154067493	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	9072873	154067493	95183128	7	40839											
C1orf189	388701	broad.mit.edu	37	chr1	154171936	154171936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acataaaaagctttgcccatCtgatttagttcctgctggta	11	14	7	9	0	1	1	0	1	1	0	2	1	2	1	2	1	3	4	2	1	5	6			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:154171936C>G	ENST00000368525.3	-	4	298	c.273G>C	c.(271-273)caG>caC	p.Q91H		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	91										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTTTGCCCATCTGATTTAGTT	0.478													42	221					0	0	0	0	G	154171936	C	G	154171936	3	3	224	1	0	0	0	0	1	0	0	0	2041	912	32	2	36	2	C1orf189	1	154171936	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	104443	154171936	95078685	8	40840											
PEAR1	375033	broad.mit.edu	37	chr1	156884446	156884446	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgtttccagaccgagaCtctgtgggctcccagccccc	6	9	9	17	1	2	2	1	0	1	2	4	3	4	2	5	1	1	2	5	1	0	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:156884446C>T	ENST00000338302.3	+	24	3195	c.2970C>T	c.(2968-2970)gaC>gaT	p.D990D	PEAR1_ENST00000292357.7_Silent_p.D990D			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	990	Pro-rich.					integral to membrane				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)					CAGACCGAGACTCTGTGGGCT	0.607													22	65					0	0	0	0	T	156884446	C	T	156884446	2	4	224	1	0	0	0	0	0	0	0	1	11783	564	20	4		4	PEAR1	1	156884446	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08	2712510	156884446	92366175	9	40841											
FCRL3	115352	broad.mit.edu	37	chr1	157666929	157666929	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccccttagacactcaCtctgtacacgtatctgagat	11	10	7	13	1	3	2	1	1	2	2	3	3	3	2	2	0	3	3	2	0	3	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:157666929C>G	ENST00000368184.3	-	6	1136		c.e6+1		FCRL3_ENST00000368186.5_Splice_Site|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3							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)					TAGACACTCACTCTGTACACG	0.522													17	24					0	0	0	0	G	157666929	C	G	157666929	5	3	224	1	0	0	0	0	0	0	1	0	5841	579	20	4	1399	4	FCRL3	1	157666929	Splice_Site	SNP	C	TCGA-CV-5430-01A-02D-1683-08	782483	157666929	91583692	10	40842											
FCGR3A	2214	broad.mit.edu	37	chr1	161518211	161518211	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccccttcatcaactcacCgatatggacttctagctgca	9	12	5	15	1	4	0	3	0	1	0	5	2	5	1	3	1	3	2	3	1	3	5			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:161518211C>T	ENST00000367969.3	-	3	610	c.427_splice	c.e3+1	p.G143_splice	FCGR3A_ENST00000436743.1_Splice_Site_p.G107_splice|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Splice_Site_p.G142_splice|FCGR3A_ENST00000540048.1_Splice_Site_p.G107_splice	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	107	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCAACTCACCGATATGGACT	0.473													4	59					0	0	0	0	T	161518211	C	T	161518211	5	4	224	1	0	0	0	0	0	0	1	0	5829	666	23	1	457	1	FCGR3A	1	161518211	Splice_Site	SNP	C	TCGA-CV-5430-01A-02D-1683-08	3851282	161518211	87732410	11	40843											
FCGR3B	2215	broad.mit.edu	37	chr1	161599568	161599568	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccccttcatcaactcacCgatatggacttctagctgca	9	12	5	15	1	4	0	3	0	1	0	5	2	5	1	3	1	3	2	3	1	3	5			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:161599568C>T	ENST00000294800.3	-	3	592	c.319_splice	c.e3+1	p.G107_splice	FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Splice_Site_p.G143_splice|FCGR3B_ENST00000367964.2_Splice_Site_p.G107_splice|FCGR2B_ENST00000428605.2_Intron|FCGR3A_ENST00000540048.1_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	107					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCAACTCACCGATATGGACT	0.468													6	40					0	0	0	0	T	161599568	C	T	161599568	5	4	224	1	0	0	0	0	0	0	1	0	5830	666	23	1	394	1	FCGR3B	1	161599568	Splice_Site	SNP	C	TCGA-CV-5430-01A-02D-1683-08	81357	161599568	87651053	12	40844											
MPZL1	9019	broad.mit.edu	37	chr1	167757121	167757121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgacaagattaacaagtCagagtctgtggtgtatgcgg	12	10	13	6	1	2	3	1	1	1	2	2	3	2	3	0	2	2	1	0	2	4	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:167757121C>T	ENST00000359523.2	+	6	975	c.773C>T	c.(772-774)tCa>tTa	p.S258L	MPZL1_ENST00000403379.3_3'UTR|MPZL1_ENST00000392121.3_Missense_Mutation_p.S108L	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	258					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					ATTAACAAGTCAGAGTCTGTG	0.438													24	30					0	0	0	0	T	167757121	C	T	167757121	3	4	224	1	0	0	0	0	1	0	0	0	9819	838	29	2	795	2	MPZL1	1	167757121	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	6157553	167757121	81493500	13	40845											
CACYBP	27101	broad.mit.edu	37	chr1	174977767	174977767	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagactgatacagttcttaTattgtgtagaaagaaagtgg	15	12	10	4	0	1	4	0	1	1	3	1	4	1	4	0	1	1	2	0	1	7	6			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:174977767T>C	ENST00000367681.2	+	5	966	c.326T>C	c.(325-327)aTa>aCa	p.I109T	CACYBP_ENST00000367679.2_Missense_Mutation_p.I152T|CACYBP_ENST00000405362.1_Missense_Mutation_p.I109T	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	152	CS.|Interaction with SKP1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						ACAGTTCTTATATTGTGTAGA	0.338													51	36					0	0	0	0	C	174977767	T	C	174977767	3	2	224	1	0	0	0	0	1	0	0	0	2589	1406	49	5	473	5	CACYBP	1	174977767	Missense_Mutation	SNP	T	TCGA-CV-5430-01A-02D-1683-08	7220646	174977767	74272854	14	40846											
PAPPA2	60676	broad.mit.edu	37	chr1	176668354	176668354	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggctgtagcttggagctGctcttccaacacccggtcca	8	9	11	13	1	1	0	0	0	1	0	3	2	3	1	3	3	4	5	3	3	3	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:176668354G>T	ENST00000367662.3	+	8	4029	c.2865G>T	c.(2863-2865)ctG>ctT	p.L955L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	955					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTTGGAGCTGCTCTTCCAAC	0.592													25	126					2.79863e-10	3.13043e-10	1	0	T	176668354	G	T	176668354	2	4	224	1	0	0	0	0	0	0	0	1	11504	1306	46	4		4	PAPPA2	1	176668354	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08	1690587	176668354	72582267	15	40847											
PAPPA2	60676	broad.mit.edu	37	chr1	176769219	176769219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtgtgcactggccggcGtcaatggcacccagaccccg	7	7	12	15	3	1	1	1	0	0	1	1	1	1	1	4	3	1	2	4	3	1	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:176769219G>A	ENST00000367662.3	+	21	6317	c.5153G>A	c.(5152-5154)cGt>cAt	p.R1718H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1718	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R1718H(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTGGCCGGCGTCAATGGCAC	0.493													25	86					0	0	0	0	A	176769219	G	A	176769219	3	1	224	1	0	0	0	0	1	0	0	0	11504	1145	40	1	5284	1	PAPPA2	1	176769219	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	100865	176769219	72481402	16	40848											
QSOX1	5768	broad.mit.edu	37	chr1	180165521	180165521	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagccaccctcaacttcctCaaggcccacttctccccaag	10	7	5	19	0	3	0	2	0	1	0	5	1	4	0	6	1	2	0	6	1	4	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:180165521C>G	ENST00000367602.3	+	12	1667	c.1593C>G	c.(1591-1593)ctC>ctG	p.L531L	QSOX1_ENST00000367600.5_Silent_p.L531L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	531					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCAACTTCCTCAAGGCCCACT	0.617													62	140					0	0	0	0	G	180165521	C	G	180165521	2	3	224	1	0	0	0	0	0	0	0	1	12965	813	29	2		2	QSOX1	1	180165521	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08	3396302	180165521	69085100	17	40849											
ASPM	259266	broad.mit.edu	37	chr1	197071233	197071233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacagcagagtgtctttgtCtgagataatgctgcctctgc	8	13	10	10	0	4	2	1	1	3	2	4	3	4	2	1	0	4	2	1	0	1	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:197071233C>G	ENST00000367409.4	-	18	7404	c.7148G>C	c.(7147-7149)aGa>aCa	p.R2383T	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2383					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTGTCTTTGTCTGAGATAATG	0.433													37	151					0	0	0	0	G	197071233	C	G	197071233	3	3	224	1	0	0	0	0	1	0	0	0	1060	913	32	2	3329	2	ASPM	1	197071233	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	16905712	197071233	52179388	18	40850											
PTPN14	5784	broad.mit.edu	37	chr1	214542824	214542824	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaatccttggacatcttctgGacagccgtgatctggccagt	9	11	10	11	1	3	1	0	1	3	0	4	3	4	3	3	3	1	0	3	3	1	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:214542824G>C	ENST00000366956.5	-	17	3441	c.3247C>G	c.(3247-3249)Cca>Gca	p.P1083A	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1083	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ACATCTTCTGGACAGCCGTGA	0.438													37	74					0	0	0	0	C	214542824	G	C	214542824	3	2	224	1	0	0	0	0	1	0	0	0	12863	1174	41	2	328	2	PTPN14	1	214542824	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	17471591	214542824	34707797	19	40851											
USH2A	7399	broad.mit.edu	37	chr1	215848775	215848775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacagagtggacagtaggagCcagctgagagtctggagggg	11	5	18	7	0	1	2	0	1	1	2	1	6	1	5	1	5	2	2	1	5	1	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:215848775C>T	ENST00000366943.2	-	63	12864	c.12478G>A	c.(12478-12480)Gct>Act	p.A4160T	USH2A_ENST00000307340.3_Missense_Mutation_p.A4160T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4160	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGTAGGAGCCAGCTGAGAG	0.542										HNSCC(13;0.011)			12	46					0	0	0	0	T	215848775	C	T	215848775	3	4	224	1	0	0	0	0	1	0	0	0	17132	739	26	4	3170	4	USH2A	1	215848775	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	1305951	215848775	33401846	20	40852											
OBSCN	84033	broad.mit.edu	37	chr1	228509058	228509058	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccacaggttggggccccagCagccccctctgtgaagccac	7	5	11	18	0	1	1	0	1	1	0	1	1	1	1	6	3	3	2	6	3	1	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:228509058C>A	ENST00000570156.2	+	66	17461	c.17387C>A	c.(17386-17388)gCa>gAa	p.A5796E	OBSCN_ENST00000366709.4_Missense_Mutation_p.A1958E|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4839E|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4839E|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2473E	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4839	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGCCCCAGCAGCCCCCTCT	0.622													8	25					3.09899e-07	3.3793e-07	1	0	A	228509058	C	A	228509058	3	1	224	1	0	0	0	0	1	0	0	0	10883	710	25	4	14730	4	OBSCN	1	228509058	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	12660283	228509058	20741563	21	40853											
ADAM17	6868	broad.mit.edu	37	chr2	9666273	9666273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtactctcttcccctctGcccatgtatctgtagaagcg	6	14	8	13	1	3	1	0	0	3	1	5	1	4	1	3	0	3	4	3	0	4	5			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:9666273G>A	ENST00000310823.3	-	6	902	c.720C>T	c.(718-720)ggC>ggT	p.G240G	ADAM17_ENST00000497134.1_Silent_p.G240G	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	240	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTTCCCCTCTGCCCATGTATC	0.383													66	111					0	0	0	0	A	9666273	G	A	9666273	2	1	224	1	0	0	0	0	0	0	0	1	238	1306	46	4		4	ADAM17	2	9666273	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08		9666273	233533100	22	40854											
GTF3C2	2976	broad.mit.edu	37	chr2	27566417	27566417	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagccgaccccgcaggtaTccatcagcaccccccaaaat	12	5	6	18	2	1	0	1	0	0	0	2	1	2	0	7	1	2	3	7	1	4	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:27566417T>A	ENST00000359541.2	-	2	434	c.5A>T	c.(4-6)gAt>gTt	p.D2V	GTF3C2_ENST00000264720.3_Missense_Mutation_p.D2V			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	2						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGCAGGTATCCATCAGCAC	0.517													39	70					0	0	0	0	A	27566417	T	A	27566417	3	1	224	1	0	0	0	0	1	0	0	0	6923	1435	50	5	2802	5	GTF3C2	2	27566417	Missense_Mutation	SNP	T	TCGA-CV-5430-01A-02D-1683-08	17900144	27566417	215632956	23	40855											
LTBP1	4052	broad.mit.edu	37	chr2	33588552	33588552	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctactgtaagcaagggAcgtactatgatcctgtgaaa	14	10	10	7	1	0	2	0	2	0	0	1	3	1	3	1	1	4	4	1	1	7	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:33588552A>C	ENST00000404816.2	+	29	4719	c.4366A>C	c.(4366-4368)Acg>Ccg	p.T1456P	LTBP1_ENST00000272273.5_Missense_Mutation_p.T354P|LTBP1_ENST00000418533.2_Missense_Mutation_p.T1088P|LTBP1_ENST00000390003.4_Missense_Mutation_p.T1131P|LTBP1_ENST00000402934.1_Missense_Mutation_p.T1075P|LTBP1_ENST00000354476.3_Missense_Mutation_p.T1457P|LTBP1_ENST00000407925.1_Missense_Mutation_p.T1130P|LTBP1_ENST00000404525.1_Missense_Mutation_p.T1077P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1456	EGF-like 15; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAAGCAAGGGACGTACTATGA	0.398													14	92					0	0	0	0	C	33588552	A	C	33588552	3	2	224	1	0	0	0	0	1	0	0	0	9137	275	10	5	4535	5	LTBP1	2	33588552	Missense_Mutation	SNP	A	TCGA-CV-5430-01A-02D-1683-08	6022135	33588552	209610821	24	40856											
PSME4	23198	broad.mit.edu	37	chr2	54155437	54155437	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtctctaatgcaggataTgttctacagtttgaaaacag	14	13	8	6	0	2	1	0	1	2	0	3	2	2	2	0	1	3	3	0	1	6	5			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:54155437T>C	ENST00000404125.1	-	11	1375	c.1320A>G	c.(1318-1320)acA>acG	p.T440T	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	440					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATGCAGGATATGTTCTACAGT	0.353													4	24					0	0	0	0	C	54155437	T	C	54155437	2	2	224	1	0	0	0	0	0	0	0	1	12788	1451	51	5		5	PSME4	2	54155437	Silent	SNP	T	TCGA-CV-5430-01A-02D-1683-08	20566885	54155437	189043936	25	40857											
CNNM3	26505	broad.mit.edu	37	chr2	97490833	97490833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtgcagaaggtgaacaacGagggtgaaggcgaccccttc	11	6	14	10	3	0	3	0	2	0	1	2	5	0	3	2	3	3	1	2	3	4	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:97490833G>A	ENST00000305510.3	+	2	1292	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	422	CBS 2.				ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GGTGAACAACGAGGGTGAAGG	0.602													6	34					0	0	0	0	A	97490833	G	A	97490833	3	1	224	1	0	0	0	0	1	0	0	0	3644	1059	37	1	1270	1	CNNM3	2	97490833	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	43335396	97490833	145708540	26	40858											
FHL2	2274	broad.mit.edu	37	chr2	105977793	105977794	+	Frame_Shift_Ins	INS	-	-	G																															tcgtccctctctgtgaggaaINSgccacgccccaccagtgaga																										TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:105977793_105977794insG	ENST00000409177.1	-	6	1255_1256	c.1134_1135insC	c.(1132-1137)ggtcctfs	p.P379fs	FHL2_ENST00000344213.4_Frame_Shift_Ins_p.P373fs|FHL2_ENST00000322142.8_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000409807.1_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000393353.3_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000393352.3_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000358129.4_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000408995.1_Frame_Shift_Ins_p.P263fs			Q14192	FHL2_HUMAN	four and a half LIM domains 2	263					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						TCTGTGAGGAAGCCACGCCCCA	0.5													30	64	---	---	---	---					G	105977794	-	G	105977793	7	5	224	1	0	1	1	0	0	0	0	0	5924	72	3	0	56	0	FHL2	2	105977793	Frame_Shift_Ins	INS	-	TCGA-CV-5430-01A-02D-1683-08	8486960	105977793	137221580	27	40859											
PTPN4	5775	broad.mit.edu	37	chr2	120712858	120712858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagtcaatgatccagctaGctgaggggcttatcactgga	10	9	14	8	0	2	2	2	2	0	0	3	4	3	4	1	4	2	3	1	4	3	2	rs143331305		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:120712858G>T	ENST00000263708.2	+	20	2710	c.1939G>T	c.(1939-1941)Gct>Tct	p.A647S	PTPN4_ENST00000544261.1_Missense_Mutation_p.A280S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	647						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GATCCAGCTAGCTGAGGGGCT	0.403													10	36					6.40141e-05	6.74323e-05	1	0	T	120712858	G	T	120712858	3	4	224	1	0	0	0	0	1	0	0	0	12872	971	34	4	2013	4	PTPN4	2	120712858	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	14735065	120712858	122486515	28	40860											
TNFAIP6	7130	broad.mit.edu	37	chr2	152226720	152226720	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttggctgattatgttgAaatatatgacagttacgatg	11	16	10	4	1	0	3	0	3	0	0	0	4	0	3	0	1	2	4	0	1	5	7			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:152226720A>C	ENST00000243347.3	+	4	656	c.581A>C	c.(580-582)gAa>gCa	p.E194A		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	194	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		GATTATGTTGAAATATATGAC	0.413													32	166					0	0	0	0	C	152226720	A	C	152226720	3	2	224	1	0	0	0	0	1	0	0	0	16369	246	9	5	595	5	TNFAIP6	2	152226720	Missense_Mutation	SNP	A	TCGA-CV-5430-01A-02D-1683-08	31513862	152226720	90972653	29	40861											
PKP4	8502	broad.mit.edu	37	chr2	159488376	159488376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggggaggacctattacaGcccagtgtaccgcagcccaa	11	6	12	12	1	0	1	0	1	0	0	0	3	0	3	4	3	4	2	4	3	4	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:159488376G>T	ENST00000389757.3	+	8	1390	c.1265G>T	c.(1264-1266)aGc>aTc	p.S422I	PKP4_ENST00000389759.3_Missense_Mutation_p.S422I	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	422					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACCTATTACAGCCCAGTGTAC	0.527										HNSCC(62;0.18)			22	62					1.96292e-10	2.20702e-10	1	0	T	159488376	G	T	159488376	3	4	224	1	0	0	0	0	1	0	0	0	12059	971	34	4	1291	4	PKP4	2	159488376	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	7261656	159488376	83710997	30	40862											
SP3	6670	broad.mit.edu	37	chr2	174819640	174819640	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctcctggatgtagctgtaTaccagcagaatctatagagt	11	12	9	9	0	2	2	0	0	2	2	3	3	2	3	2	1	3	4	2	1	6	5			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:174819640T>C	ENST00000310015.6	-	4	2130	c.1600A>G	c.(1600-1602)Ata>Gta	p.I534V	SP3_ENST00000455789.2_Missense_Mutation_p.I481V|SP3_ENST00000418194.2_Missense_Mutation_p.I466V	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	534	Repressor domain.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGTAGCTGTATACCAGCAGAA	0.423													35	57					0	0	0	0	C	174819640	T	C	174819640	3	2	224	1	0	0	0	0	1	0	0	0	15053	1406	49	5	761	5	SP3	2	174819640	Missense_Mutation	SNP	T	TCGA-CV-5430-01A-02D-1683-08	15331264	174819640	68379733	31	40863											
OLA1	29789	broad.mit.edu	37	chr2	175006625	175006625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatctataatgggcccaatCatttcctcatctttaagctg	10	16	5	10	0	4	0	2	0	2	0	5	0	5	0	2	1	1	1	2	1	5	6			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:175006625C>T	ENST00000284719.3	-	5	723	c.477G>A	c.(475-477)atG>atA	p.M159I	OLA1_ENST00000428402.2_Missense_Mutation_p.M159I|OLA1_ENST00000344357.5_Start_Codon_SNP_p.M1I|OLA1_ENST00000409546.1_Missense_Mutation_p.M179I	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	159					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TGGGCCCAATCATTTCCTCAT	0.343													16	87					0	0	0	0	T	175006625	C	T	175006625	3	4	224	1	0	0	0	0	1	0	0	0	10921	826	29	2	741	2	OLA1	2	175006625	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	186985	175006625	68192748	32	40864											
TTC30A	92104	broad.mit.edu	37	chr2	178482633	178482633	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcttgagctacctcatagTttctcagttggtattctatg	7	19	7	8	0	4	1	2	1	3	0	5	1	4	1	1	1	2	4	1	1	4	9			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:178482633T>A	ENST00000355689.4	-	1	1061	c.797A>T	c.(796-798)aAc>aTc	p.N266I	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	266					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TACCTCATAGTTTCTCAGTTG	0.507													40	80					0	0	0	0	A	178482633	T	A	178482633	3	1	224	1	0	0	0	0	1	0	0	0	16794	1725	60	5	1204	5	TTC30A	2	178482633	Missense_Mutation	SNP	T	TCGA-CV-5430-01A-02D-1683-08	3476008	178482633	64716740	33	40865											
TTN	7273	broad.mit.edu	37	chr2	179449963	179449963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgtgacaacttcatcttctCcttttttccatttacaggtg	8	18	5	10	0	3	1	1	1	2	0	5	1	4	1	2	1	2	0	2	1	2	7			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:179449963C>T	ENST00000589042.1	-	309	64732	c.64508G>A	c.(64507-64509)gGa>gAa	p.G21503E	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G12438E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18935E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G19862E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12630E|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G12563E|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19862	Fibronectin type-III 56.						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)			TTCATCTTCTCCTTTTTTCCA	0.423													32	189					0	0	0	0	T	179449963	C	T	179449963	3	4	224	1	0	0	0	0	1	0	0	0	16831	855	30	2	43687	2	TTN	2	179449963	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	967330	179449963	63749410	34	40866											
CACNA1D	776	broad.mit.edu	37	chr3	53834348	53834348	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgatttgcaagatgacGagcctgaggaaacaaaacga	15	7	12	7	3	0	4	0	3	0	1	0	7	0	5	1	1	4	1	1	1	4	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:53834348G>T	ENST00000288139.3	+	42	5174	c.5056G>T	c.(5056-5058)Gag>Tag	p.E1686*	CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.E1666*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E1651*|CACNA1D_ENST00000544977.1_Nonsense_Mutation_p.E45*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1666					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCAAGATGACGAGCCTGAGGA	0.463													20	45					1.33834e-09	1.48933e-09	1	0	T	53834348	G	T	53834348	4	4	224	1	0	0	0	0	0	1	0	0	2566	1059	37	3	5330	3	CACNA1D	3	53834348	Nonsense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08		53834348	144188082	35	40867											
PDE12	201626	broad.mit.edu	37	chr3	57542169	57542169	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggacggcggtggagaagctGagccgggctgaagcggggag	8	3	22	8	5	0	3	0	2	0	1	0	6	0	5	1	7	3	2	1	7	2	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:57542169G>A	ENST00000311180.8	+	1	166	c.63G>A	c.(61-63)ctG>ctA	p.L21L	PDE12_ENST00000487257.1_Silent_p.L21L	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	21							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TGGAGAAGCTGAGCCGGGCTG	0.692													5	9					0	0	0	0	A	57542169	G	A	57542169	2	1	224	1	0	0	0	0	0	0	0	1	11703	1277	45	2		2	PDE12	3	57542169	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08	3707821	57542169	140480261	36	40868											
NFKBIZ	64332	broad.mit.edu	37	chr3	101573934	101573934	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggtggcagtggctgccaAtcagcatctcattgtgcagg	8	10	13	10	0	3	0	3	0	1	0	4	0	3	0	1	4	3	4	1	4	1	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:101573934A>G	ENST00000326172.5	+	7	1587	c.1472A>G	c.(1471-1473)aAt>aGt	p.N491S	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N369S|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N391S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	491	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GTGGCTGCCAATCAGCATCTC	0.458													21	102					0	0	0	0	G	101573934	A	G	101573934	3	3	224	1	0	0	0	0	1	0	0	0	10453	101	4	5	1498	5	NFKBIZ	3	101573934	Missense_Mutation	SNP	A	TCGA-CV-5430-01A-02D-1683-08	44031765	101573934	96448496	37	40869											
CD96	10225	broad.mit.edu	37	chr3	111296359	111296359	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttccttaggaaaacagcaGcacggattcttgggtccttc	9	12	9	11	1	2	0	0	0	2	0	5	2	4	2	2	3	3	2	2	3	3	5			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:111296359G>C	ENST00000283285.5	+	4	685	c.554G>C	c.(553-555)aGc>aCc	p.S185T	CD96_ENST00000352690.4_Intron|CD96_ENST00000438817.2_Intron	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	185	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAAAACAGCAGCACGGATTCT	0.423									Opitz Trigonocephaly syndrome				62	331					0	0	0	0	C	111296359	G	C	111296359	3	2	224	1	0	0	0	0	1	0	0	0	3077	971	34	4	568	4	CD96	3	111296359	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	9722425	111296359	86726071	38	40870											
ATP2C1	27032	broad.mit.edu	37	chr3	130715584	130715584	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaactttcctaatcctctCaatgccatgcagattttgtg	10	15	6	10	0	1	2	1	1	1	1	4	2	3	2	3	0	3	1	3	0	3	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:130715584C>G	ENST00000510168.1	+	24	2737	c.2187C>G	c.(2185-2187)ctC>ctG	p.L729L	ATP2C1_ENST00000393221.4_Silent_p.L763L|ATP2C1_ENST00000504381.1_Silent_p.L674L|ATP2C1_ENST00000507488.2_Silent_p.L713L|ATP2C1_ENST00000428331.2_Silent_p.L729L|ATP2C1_ENST00000504948.1_Silent_p.L713L|ATP2C1_ENST00000505330.1_Silent_p.L713L|ATP2C1_ENST00000508532.1_Silent_p.L729L|ATP2C1_ENST00000422190.2_Silent_p.L729L|ATP2C1_ENST00000513801.1_Silent_p.L713L|ATP2C1_ENST00000533801.2_Silent_p.L724L|ATP2C1_ENST00000328560.8_Silent_p.L729L|ATP2C1_ENST00000359644.3_Silent_p.L729L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	729					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CTAATCCTCTCAATGCCATGC	0.363									Hailey-Hailey disease				35	85					0	0	0	0	G	130715584	C	G	130715584	2	3	224	1	0	0	0	0	0	0	0	1	1147	813	29	2		2	ATP2C1	3	130715584	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08	19419225	130715584	67306846	39	40871											
NPHP3	27031	broad.mit.edu	37	chr3	132435736	132435736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctccgccagtccaatattCacattgggttccagcagctg	8	10	10	13	1	1	0	1	0	0	0	4	0	4	0	4	2	2	4	4	2	2	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:132435736C>T	ENST00000326682.8	-	4	764	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	NPHP3_ENST00000337331.5_Missense_Mutation_p.E230K			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	230					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCCAATATTCACATTGGGTT	0.443													15	74					0	0	0	0	T	132435736	C	T	132435736	3	4	224	1	0	0	0	0	1	0	0	0	10650	835	29	2	3400	2	NPHP3	3	132435736	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	1720152	132435736	65586694	40	40872											
KY	339855	broad.mit.edu	37	chr3	134323141	134323141	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcactgagctgtagatgtcGgagttgcccttggcaaagat	10	10	13	8	1	0	3	0	1	0	2	1	4	0	4	1	2	3	5	1	2	2	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:134323141G>A	ENST00000508956.1	-	10	1260	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.S422S			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	422						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TGTAGATGTCGGAGTTGCCCT	0.562													8	60					0	0	0	0	A	134323141	G	A	134323141	2	1	224	1	0	0	0	0	0	0	0	1	8639	1103	39	1		1	KY	3	134323141	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08	1887405	134323141	63699289	41	40873											
AP2M1	1173	broad.mit.edu	37	chr3	183894784	183894784	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagactgatctgccgccatGattggaggcttattcatcta	9	12	11	9	1	3	3	1	2	2	1	3	5	3	4	2	3	1	1	2	3	2	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:183894784G>C	ENST00000382456.3	+	2	317	c.3G>C	c.(1-3)atG>atC	p.M1I	AP2M1_ENST00000439647.1_Start_Codon_SNP_p.M1I|AP2M1_ENST00000411763.2_Start_Codon_SNP_p.M1I|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000292807.5_Start_Codon_SNP_p.M1I	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	1					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCCGCCATGATTGGAGGCT	0.582													6	38					0	0	0	0	C	183894784	G	C	183894784	1	2	224	1	0	0	0	0	0	0	0	0	743	1290	45	2		2	AP2M1	3	183894784	Translation_Start_Site	SNP	G	TCGA-CV-5430-01A-02D-1683-08	49571643	183894784	14127646	42	40874											
DGKQ	1609	broad.mit.edu	37	chr4	959312	959312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgactcacggacaccaCggtggctgcaaaggcaggct	10	6	14	11	2	1	1	1	1	0	0	1	3	1	2	1	5	1	4	1	5	1	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:959312C>T	ENST00000273814.3	-	14	1658	c.1585G>A	c.(1585-1587)Gtg>Atg	p.V529M	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	529					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGGACACCACGGTGGCTGCA	0.652													3	25					0	0	0	0	T	959312	C	T	959312	3	4	224	1	0	0	0	0	1	0	0	0	4510	536	19	1	1283	1	DGKQ	4	959312	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08		959312	190194964	43	40875											
SLC2A9	56606	broad.mit.edu	37	chr4	9828063	9828063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcagtgacagctgagtcGattttctcttctggtgggta	7	14	11	9	1	3	2	1	2	2	0	5	3	3	2	1	2	1	2	1	2	1	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:9828063G>A	ENST00000506583.1	-	14	1711	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	SLC2A9_ENST00000264784.3_Silent_p.I527I|SLC2A9_ENST00000309065.3_Silent_p.I498I			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	527					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.I498I(1)|p.I527I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CAGCTGAGTCGATTTTCTCTT	0.423													40	77					0	0	0	0	A	9828063	G	A	9828063	2	1	224	1	0	0	0	0	0	0	0	1	14640	1048	37	1		1	SLC2A9	4	9828063	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08	8868751	9828063	181326213	44	40876											
NKX3-2	579	broad.mit.edu	37	chr4	13544126	13544126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctctggggccaacaccgtCgtcctcggtccttgggctgc	4	9	12	16	3	1	0	0	0	1	0	5	0	3	0	5	4	2	1	5	4	1	1	rs61795263		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:13544126C>T	ENST00000382438.5	-	2	1128	c.493G>A	c.(493-495)Gac>Aac	p.D165N		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	165					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CCAACACCGTCGTCCTCGGTC	0.721													4	20					0	0	0	0	T	13544126	C	T	13544126	3	4	224	1	0	0	0	0	1	0	0	0	10526	884	31	1	512	1	NKX3-2	4	13544126	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	3716063	13544126	177610150	45	40877											
PF4	5196	broad.mit.edu	37	chr4	74846999	74846999	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaattttccttccattcttCagcgtggctctggcagggaa	8	13	9	11	1	3	0	1	0	2	0	5	1	5	1	2	3	1	2	2	3	2	5			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:74846999C>T	ENST00000296029.3	-	3	398	c.228G>A	c.(226-228)ctG>ctA	p.L76L		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	76					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	TTCCATTCTTCAGCGTGGCTC	0.488													9	87					0	0	0	0	T	74846999	C	T	74846999	2	4	224	1	0	0	0	0	0	0	0	1	11824	813	29	2		2	PF4	4	74846999	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08	61302873	74846999	116307277	46	40878											
FAT1	2195	broad.mit.edu	37	chr4	187538164	187538164	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagctgcttaccttttCacaaactggactgttgtcat	10	13	9	9	0	2	1	2	0	0	1	2	3	2	3	1	2	4	3	1	2	3	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:187538164C>A	ENST00000441802.2	-	11	9279	c.9070G>T	c.(9070-9072)Gaa>Taa	p.E3024*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3024	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTACCTTTTCACAAACTGGA	0.388										HNSCC(5;0.00058)			13	22					7.93312e-07	8.56461e-07	1	0	A	187538164	C	A	187538164	4	1	224	1	0	0	0	0	0	1	0	0	5734	835	29	2	4764	2	FAT1	4	187538164	Nonsense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	112691165	187538164	3616112	47	40879											
NUDT12	83594	broad.mit.edu	37	chr5	102894586	102894586	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattcatttcttaccagcttCtttttctttcaattgcagaa	9	19	3	10	0	5	1	2	0	3	1	5	1	5	1	1	0	3	2	1	0	3	8			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:102894586C>G	ENST00000230792.2	-	3	886	c.790G>C	c.(790-792)Gaa>Caa	p.E264Q	NUDT12_ENST00000507423.1_Missense_Mutation_p.E246Q	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	264						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTACCAGCTTCTTTTTCTTTC	0.373													3	7					0	0	0	0	G	102894586	C	G	102894586	3	3	224	1	0	0	0	0	1	0	0	0	10799	922	32	2	618	2	NUDT12	5	102894586	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08		102894586	78020674	48	40880											
APC	324	broad.mit.edu	37	chr5	112176368	112176368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgagataccattcctacaGaaggcagaagtacagatgag	17	6	10	8	1	0	5	0	1	0	4	1	6	1	5	2	1	4	2	2	1	6	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:112176368G>A	ENST00000457016.1	+	16	5457	c.5077G>A	c.(5077-5079)Gaa>Aaa	p.E1693K	APC_ENST00000508376.2_Missense_Mutation_p.E1693K|APC_ENST00000257430.4_Missense_Mutation_p.E1693K|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1693	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CATTCCTACAGAAGGCAGAAG	0.438		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			4	17					0	0	0	0	A	112176368	G	A	112176368	3	1	224	1	0	0	0	0	1	0	0	0	764	943	33	2	5135	2	APC	5	112176368	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	9281782	112176368	68738892	49	40881			1	60		4	4	2212	G		3.330944e-07
APC	324	broad.mit.edu	37	chr5	112177885	112177885	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaaagtttataaaagtttGattactggaaaagttcgatc	18	13	7	3	1	0	1	0	1	0	0	2	3	0	2	0	1	1	3	0	1	9	6			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:112177885G>C	ENST00000457016.1	+	16	6974	c.6594G>C	c.(6592-6594)ttG>ttC	p.L2198F	APC_ENST00000508376.2_Missense_Mutation_p.L2198F|APC_ENST00000257430.4_Missense_Mutation_p.L2198F|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2198	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATAAAAGTTTGATTACTGGAA	0.358		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			13	36					0	0	0	0	C	112177885	G	C	112177885	3	2	224	1	0	0	0	0	1	0	0	0	764	1281	45	2	6652	2	APC	5	112177885	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	1517	112177885	68737375	50	40882			1	60		4	4	2212	G		3.330944e-07
APC	324	broad.mit.edu	37	chr5	112178407	112178407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacatctccaggtagacaGatgagccaacagaaccttac	15	8	7	11	0	1	4	0	1	1	3	2	4	1	4	3	1	5	1	3	1	6	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:112178407G>T	ENST00000457016.1	+	16	7496	c.7116G>T	c.(7114-7116)caG>caT	p.Q2372H	APC_ENST00000508376.2_Missense_Mutation_p.Q2372H|APC_ENST00000257430.4_Missense_Mutation_p.Q2372H|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2372	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGGTAGACAGATGAGCCAAC	0.403		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			14	34					1.5842e-08	1.75394e-08	1	0	T	112178407	G	T	112178407	3	4	224	1	0	0	0	0	1	0	0	0	764	933	33	2	7174	2	APC	5	112178407	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	522	112178407	68736853	51	40883			1	60		4	4	2212	G		3.330944e-07
APC	324	broad.mit.edu	37	chr5	112178579	112178579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcaagtggaagtgaatctGatagatcagaaagacctgta	17	9	10	5	0	3	5	2	2	1	3	3	6	3	6	1	1	0	1	1	1	7	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:112178579G>C	ENST00000457016.1	+	16	7668	c.7288G>C	c.(7288-7290)Gat>Cat	p.D2430H	APC_ENST00000508376.2_Missense_Mutation_p.D2430H|APC_ENST00000257430.4_Missense_Mutation_p.D2430H|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2430	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGTGAATCTGATAGATCAGA	0.373		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			17	34					0	0	0	0	C	112178579	G	C	112178579	3	2	224	1	0	0	0	0	1	0	0	0	764	1290	45	2	7346	2	APC	5	112178579	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	172	112178579	68736681	52	40884			1	60		4	4	2212	G		3.330944e-07
PCDHB10	56126	broad.mit.edu	37	chr5	140572793	140572793	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgggtctccatccaggtCtgggacctctactgtacgca	6	11	12	12	1	3	0	0	0	3	0	5	1	4	1	3	4	2	2	3	4	2	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:140572793C>G	ENST00000239446.4	+	1	852	c.668C>G	c.(667-669)tCt>tGt	p.S223C		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		223	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATCCAGGTCTGGGACCTCT	0.552													28	70					0	0	0	0	G	140572793	C	G	140572793	3	3	224	1	0	0	0	0	1	0	0	0	11606	913	32	2	670	2	PCDHB10	5	140572793	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	28394214	140572793	40342467	53	40885											
GRIA1	2890	broad.mit.edu	37	chr5	153085627	153085627	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtgacatttctcccaGgtcagtcagctcttctcaat	9	13	8	11	0	5	1	3	1	3	0	7	2	5	2	1	2	1	1	1	2	1	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:153085627G>A	ENST00000285900.5	+	11	2166	c.1823_splice	c.e11+1	p.R608_splice	GRIA1_ENST00000521843.2_Splice_Site_p.R539_splice|GRIA1_ENST00000518142.1_Splice_Site_p.R528_splice|GRIA1_ENST00000340592.5_Splice_Site_p.R608_splice|GRIA1_ENST00000518783.1_Splice_Site_p.R618_splice|GRIA1_ENST00000448073.4_Splice_Site_p.R618_splice	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	608					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTTCTCCCAGGTCAGTCAGC	0.403													31	22					0	0	0	0	A	153085627	G	A	153085627	5	1	224	1	0	0	0	0	0	0	1	0	6817	1014	35	4	1865	4	GRIA1	5	153085627	Splice_Site	SNP	G	TCGA-CV-5430-01A-02D-1683-08	12512834	153085627	27829633	54	40886											
WWC1	23286	broad.mit.edu	37	chr5	167887709	167887709	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaaaagccaccttttgttCgaaactccctggagcgacgc	11	8	8	14	3	0	0	0	0	0	0	2	3	1	1	4	1	3	1	4	1	3	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:167887709C>T	ENST00000265293.4	+	20	3380	c.2878C>T	c.(2878-2880)Cga>Tga	p.R960*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.R960*|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	960	Interaction with PRKCZ.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACCTTTTGTTCGAAACTCCCT	0.507													13	11					0	0	0	0	T	167887709	C	T	167887709	4	4	224	1	0	0	0	0	0	1	0	0	17507	876	31	1	2956	1	WWC1	5	167887709	Nonsense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	14802082	167887709	13027551	55	40887											
DOCK2	1794	broad.mit.edu	37	chr5	169144446	169144446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttcaacaccgttctggAggcttacatccaacagcatt	11	11	7	12	1	2	0	1	0	1	0	3	1	3	1	2	2	4	4	2	2	3	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:169144446A>G	ENST00000256935.8	+	21	2170	c.2090A>G	c.(2089-2091)gAg>gGg	p.E697G	DOCK2_ENST00000520908.1_Missense_Mutation_p.E189G|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	697					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCGTTCTGGAGGCTTACATC	0.463													7	137					0	0	0	0	G	169144446	A	G	169144446	3	3	224	1	0	0	0	0	1	0	0	0	4723	304	11	5	2172	5	DOCK2	5	169144446	Missense_Mutation	SNP	A	TCGA-CV-5430-01A-02D-1683-08	1256737	169144446	11770814	56	40888											
RIPK1	8737	broad.mit.edu	37	chr6	3105891	3105891	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagccgcatggacaggcaGacgaaacagcagcccagaca	14	1	13	13	2	0	2	0	0	0	2	0	4	0	3	2	3	4	4	2	3	1	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:3105891G>C	ENST00000259808.4	+	9	1480	c.1182G>C	c.(1180-1182)caG>caC	p.Q394H	RIPK1_ENST00000541791.1_Missense_Mutation_p.Q348H|RIPK1_ENST00000380409.2_Missense_Mutation_p.Q394H|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	394	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGGACAGGCAGACGAAACAGC	0.532													26	65					0	0	0	0	C	3105891	G	C	3105891	3	2	224	1	0	0	0	0	1	0	0	0	13465	933	33	2	1212	2	RIPK1	6	3105891	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08		3105891	168009176	57	40889											
HIVEP1	3096	broad.mit.edu	37	chr6	12122650	12122650	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgacaaaattggcactttCtatgatgatgtctttgtatc	11	16	8	6	0	2	3	0	3	2	0	3	4	2	3	0	1	0	2	0	1	4	5			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:12122650C>G	ENST00000379388.2	+	4	2954	c.2622C>G	c.(2620-2622)ttC>ttG	p.F874L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	874					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTGGCACTTTCTATGATGATG	0.473													24	134					0	0	0	0	G	12122650	C	G	12122650	3	3	224	1	0	0	0	0	1	0	0	0	7236	912	32	2	2632	2	HIVEP1	6	12122650	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	9016759	12122650	158992417	58	40890											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158508	26158508	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcgcagccgcaaggagagCtattcagtgtatgtgtacaa	13	8	12	8	2	1	1	1	0	0	1	1	2	1	1	1	1	4	5	1	1	6	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:26158508C>G	ENST00000289316.2	+	1	135	c.111C>G	c.(109-111)agC>agG	p.S37R	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S37R	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	37					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GCAAGGAGAGCTATTCAGTGT	0.542													17	166					0	0	0	0	G	26158508	C	G	26158508	3	3	224	1	0	0	0	0	1	0	0	0	7193	796	28	4	113	4	HIST1H2BD	6	26158508	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	14035858	26158508	144956559	59	40891											
TAF8	129685	broad.mit.edu	37	chr6	42036204	42036204	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcttccaattcgccagtGattgctgccagacctttcac	7	13	6	15	1	2	2	1	1	1	1	5	2	3	2	4	0	2	1	4	0	1	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:42036204G>A	ENST00000372977.3	+	7	657	c.637_splice	c.e7-1	p.L213_splice	TAF8_ENST00000465926.1_Intron|TAF8_ENST00000372982.4_Splice_Site_p.L213_splice|TAF8_ENST00000456846.2_Splice_Site_p.L213_splice|TAF8_ENST00000494547.1_Splice_Site_p.L213_splice	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	213					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			ATTCGCCAGTGATTGCTGCCA	0.522													54	395					0	0	0	0	A	42036204	G	A	42036204	5	1	224	1	0	0	0	0	0	0	1	0	15625	1304	45	2	665	2	TAF8	6	42036204	Splice_Site	SNP	G	TCGA-CV-5430-01A-02D-1683-08	15877696	42036204	129078863	60	40892											
ABCC10	89845	broad.mit.edu	37	chr6	43413457	43413457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatcctcctggccaacgcgGcaggcctgctggggctcctg	5	7	13	16	2	0	0	0	0	0	0	3	0	3	0	5	5	2	3	5	5	1	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:43413457G>T	ENST00000244533.3	+	13	3426	c.3067G>T	c.(3067-3069)Gca>Tca	p.A1023S	ABCC10_ENST00000372530.4_Missense_Mutation_p.A1051S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1051	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGCCAACGCGGCAGGCCTGCT	0.647													8	56					0.000157383	0.000164193	1	0	T	43413457	G	T	43413457	3	4	224	1	0	0	0	0	1	0	0	0	50	1203	42	4	3117	4	ABCC10	6	43413457	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	1377253	43413457	127701610	61	40893											
HTR1E	3354	broad.mit.edu	37	chr6	87726086	87726086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaccctctgctctataCgagttttaatgaagacttta	12	14	6	9	1	3	2	1	1	2	1	3	4	3	2	1	0	3	2	1	0	6	6			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:87726086C>A	ENST00000305344.4	+	2	1737	c.1034C>A	c.(1033-1035)aCg>aAg	p.T345K	HTR1E_ENST00000369584.1_Missense_Mutation_p.T345K	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	345					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTGCTCTATACGAGTTTTAAT	0.438													14	51					1.99824e-07	2.18999e-07	1	0	A	87726086	C	A	87726086	3	1	224	1	0	0	0	0	1	0	0	0	7492	536	19	3	1036	3	HTR1E	6	87726086	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	44312629	87726086	83388981	62	40894											
EPHA7	2045	broad.mit.edu	37	chr6	94120310	94120310	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccttctgcactgcagtgcatCctgggggcgttttccgcttc	3	13	11	14	2	1	0	0	0	1	0	4	0	3	0	3	2	3	5	3	2	0	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:94120310C>T	ENST00000369303.4	-	3	925	c.741G>A	c.(739-741)agG>agA	p.R247R	EPHA7_ENST00000369297.1_Silent_p.R247R	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	247	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGCAGTGCATCCTGGGGGCGT	0.473													9	37					0	0	0	0	T	94120310	C	T	94120310	2	4	224	1	0	0	0	0	0	0	0	1	5210	854	30	2		2	EPHA7	6	94120310	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08	6394224	94120310	76994757	63	40895											
FOXO3	2309	broad.mit.edu	37	chr6	108984767	108984767	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccctgatggggggaagagcgGaaaagccccccggcggcggg	8	2	19	12	4	0	2	0	1	0	1	0	4	0	4	4	7	2	0	4	7	3	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:108984767G>C	ENST00000406360.1	+	2	1074	c.731G>C	c.(730-732)gGa>gCa	p.G244A	FOXO3_ENST00000343882.6_Missense_Mutation_p.G244A|FOXO3_ENST00000540898.1_Missense_Mutation_p.G24A	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	244				PDGGKSGKA -> LMGEERKT (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGGAAGAGCGGAAAAGCCCCC	0.592													9	19					0	0	0	0	C	108984767	G	C	108984767	3	2	224	1	0	0	0	0	1	0	0	0	6071	1174	41	2	737	2	FOXO3	6	108984767	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	14864457	108984767	62130300	64	40896											
ROS1	6098	broad.mit.edu	37	chr6	117681060	117681060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattatcagctgtgtagcaaAcggcactgataactctttct	11	13	7	10	1	3	1	1	1	2	0	3	1	3	1	0	1	4	4	0	1	4	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:117681060A>G	ENST00000368508.3	-	23	3758	c.3560T>C	c.(3559-3561)gTt>gCt	p.V1187A	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V1182A	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1187					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGTGTAGCAAACGGCACTGAT	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								13	83					0	0	0	0	G	117681060	A	G	117681060	3	3	224	1	0	0	0	0	1	0	0	0	13616	43	2	5	3567	5	ROS1	6	117681060	Missense_Mutation	SNP	A	TCGA-CV-5430-01A-02D-1683-08	8696293	117681060	53434007	65	40897											
SGK1	6446	broad.mit.edu	37	chr6	134498960	134498960	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaactctgagatgacaTgagagcacgagccagagacg	13	5	14	9	2	1	4	0	3	1	3	1	9	1	5	1	1	3	2	1	1	1	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:134498960T>C	ENST00000528577.1	-	1	83	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SGK1_ENST00000367858.5_Intron	NM_001143677.1	NP_001137149.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGAGATGACATGAGAGCACGA	0.493													5	13					0	0	0	0	C	134498960	T	C	134498960	1	2	224	1	0	0	0	0	0	0	0	0	14294	1464	51	5		5	SGK1	6	134498960	Translation_Start_Site	SNP	T	TCGA-CV-5430-01A-02D-1683-08	16817900	134498960	36616107	66	40898											
FBXO30	84085	broad.mit.edu	37	chr6	146126707	146126708	+	Frame_Shift_Ins	INS	-	-	A																															ttacaaagagcagaagtgtcINSataagaacttgtattcaagt																										TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:146126707_146126708insA	ENST00000237281.4	-	2	1000_1001	c.834_835insT	c.(832-837)taacacfs	p.*H278fs		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	278							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GCAGAAGTGTCATAAGAACTTG	0.356													40	111	---	---	---	---					A	146126708	-	A	146126707	7	5	224	1	0	1	1	0	0	0	0	0	5785	826	29	0	1410	0	FBXO30	6	146126707	Frame_Shift_Ins	INS	-	TCGA-CV-5430-01A-02D-1683-08	11627747	146126707	24988360	67	40899											
FAM188B	84182	broad.mit.edu	37	chr7	30818091	30818091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggaccaggaacgcccacGctctgacctcagcataaaca	13	5	8	15	2	2	1	1	1	1	0	2	3	2	3	3	2	3	2	3	2	3	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:30818091G>A	ENST00000265299.6	+	2	184	c.107G>A	c.(106-108)cGc>cAc	p.R36H	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	36										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAACGCCCACGCTCTGACCTC	0.438													15	62					0	0	0	0	A	30818091	G	A	30818091	3	1	224	1	0	0	0	0	1	0	0	0	5557	1087	38	1	113	1	FAM188B	7	30818091	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08		30818091	128320572	68	40900											
VPS41	27072	broad.mit.edu	37	chr7	38781699	38781699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaacatgtgtgccaatgttGtttaacaagccagtaataaa	15	12	7	7	0	1	0	1	0	0	0	1	0	1	0	2	0	4	3	2	0	7	5			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:38781699G>T	ENST00000310301.4	-	25	2199	c.2145C>A	c.(2143-2145)aaC>aaA	p.N715K	VPS41_ENST00000395969.2_Missense_Mutation_p.N690K	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	715					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGCCAATGTTGTTTAACAAGC	0.323													6	27					0.000274275	0.000284774	1	0	T	38781699	G	T	38781699	3	4	224	1	0	0	0	0	1	0	0	0	17306	1368	48	4	439	4	VPS41	7	38781699	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	7963608	38781699	120356964	69	40901											
PKD1L1	168507	broad.mit.edu	37	chr7	47882701	47882701	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacttgtctacttttagcGaccaaaaatccataaagaat	15	13	4	9	1	2	1	0	0	2	1	3	2	3	1	2	0	3	0	2	0	8	6			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:47882701G>T	ENST00000289672.2	-	34	5354	c.5304C>A	c.(5302-5304)gtC>gtA	p.V1768V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1768					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TACTTTTAGCGACCAAAAATC	0.388													10	21					2.17888e-05	2.32914e-05	1	0	T	47882701	G	T	47882701	2	4	224	1	0	0	0	0	0	0	0	1	12036	1045	37	3		3	PKD1L1	7	47882701	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08	9101002	47882701	111255962	70	40902											
SEMA3A	10371	broad.mit.edu	37	chr7	83610760	83610760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accggtgtaaagggagctggGcaaccccagccgttgaacca	11	5	13	12	2	0	1	0	1	0	0	0	2	0	2	5	3	4	4	5	3	4	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:83610760G>A	ENST00000265362.3	-	14	1843	c.1529C>T	c.(1528-1530)gCc>gTc	p.A510V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.A510V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	510	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGGGAGCTGGGCAACCCCAGC	0.453													6	25					0	0	0	0	A	83610760	G	A	83610760	3	1	224	1	0	0	0	0	1	0	0	0	14111	1203	42	4	802	4	SEMA3A	7	83610760	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	35728059	83610760	75527903	71	40903											
FZD1	8321	broad.mit.edu	37	chr7	90895581	90895581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccatcaagaccatcaccatCctggcgctgggccaggtgga	9	6	12	14	1	2	1	2	0	0	1	3	2	3	2	5	4	0	1	5	4	1	0	rs150597135		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:90895581C>T	ENST00000287934.2	+	1	1799	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	462					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCATCACCATCCTGGCGCTGG	0.647													27	86					0	0	0	0	T	90895581	C	T	90895581	2	4	224	1	0	0	0	0	0	0	0	1	6176	845	30	2		2	FZD1	7	90895581	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08	7284821	90895581	68243082	72	40904											
AKAP9	10142	broad.mit.edu	37	chr7	91632007	91632007	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagacaaaacttttgtagcaGaaacattggaaatgggtgag	17	9	11	4	0	0	3	0	1	0	2	0	4	0	4	0	2	3	2	0	2	6	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:91632007G>C	ENST00000359028.2	+	9	3037	c.2812G>C	c.(2812-2814)Gaa>Caa	p.E938Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.E926Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.E938Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	938	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTTGTAGCAGAAACATTGGA	0.358			T	BRAF	papillary thyroid								9	38					0	0	0	0	C	91632007	G	C	91632007	3	2	224	1	0	0	0	0	1	0	0	0	459	943	33	2	2806	2	AKAP9	7	91632007	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	736426	91632007	67506656	73	40905											
PEX1	5189	broad.mit.edu	37	chr7	92147568	92147568	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggaaacagcatgcagcTcctagaaccaacagacgaaa	18	3	9	11	1	0	2	0	0	0	2	1	4	1	3	2	1	6	3	2	1	6	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:92147568T>C	ENST00000248633.4	-	4	454	c.357_splice	c.e4-1	p.E120_splice	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Splice_Site_p.E120_splice	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	120					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGCATGCAGCTCCTAGAACCA	0.313													24	36					0	0	0	0	C	92147568	T	C	92147568	5	2	224	1	0	0	0	0	0	0	1	0	11807	1565	54	5	3576	5	PEX1	7	92147568	Splice_Site	SNP	T	TCGA-CV-5430-01A-02D-1683-08	515561	92147568	66991095	74	40906											
SGCE	8910	broad.mit.edu	37	chr7	94257653	94257653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatttgtattaaatgttatgGgatcattactaatctcgcct	12	17	6	6	1	2	0	1	0	1	0	3	1	2	1	1	1	1	2	1	1	7	6			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:94257653G>A	ENST00000415788.2	-	4	446	c.359C>T	c.(358-360)cCc>cTc	p.P120L	SGCE_ENST00000445866.2_Missense_Mutation_p.P84L|SGCE_ENST00000437425.2_Missense_Mutation_p.P43L|SGCE_ENST00000447873.1_Missense_Mutation_p.P84L|SGCE_ENST00000265735.7_Missense_Mutation_p.P84L|SGCE_ENST00000428696.2_Missense_Mutation_p.P84L			O43556	SGCE_HUMAN	sarcoglycan, epsilon	84					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAATGTTATGGGATCATTACT	0.368													13	22					0	0	0	0	A	94257653	G	A	94257653	3	1	224	1	0	0	0	0	1	0	0	0	14289	1232	43	4	1250	4	SGCE	7	94257653	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	2110085	94257653	64881010	75	40907											
BRAF	673	broad.mit.edu	37	chr7	140501295	140501295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	taaccacatgtttgacagcgGaaaccctggaaaagcagctt	14	8	9	10	1	0	1	0	1	0	0	0	3	0	3	2	2	5	3	2	2	4	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:140501295G>C	ENST00000288602.6	-	6	837	c.777C>G	c.(775-777)ttC>ttG	p.F259L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	259					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TTTGACAGCGGAAACCCTGGA	0.358		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				5	31					0	0	0	0	C	140501295	G	C	140501295	3	2	224	1	0	0	0	0	1	0	0	0	1504	1165	41	2	1575	2	BRAF	7	140501295	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	46243642	140501295	18637368	76	40908											
CHPF2	54480	broad.mit.edu	37	chr7	150935153	150935153	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggctcgctgtgcgagcaGaggccccttcccaggtgcga	5	7	14	15	3	0	1	0	0	0	1	2	3	1	1	4	3	3	3	4	3	0	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:150935153G>C	ENST00000035307.2	+	4	3218	c.1705G>C	c.(1705-1707)Gag>Cag	p.E569Q	CHPF2_ENST00000495645.1_Missense_Mutation_p.E561Q	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	569						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGTGCGAGCAGAGGCCCCTTC	0.632													6	43					0	0	0	0	C	150935153	G	C	150935153	3	2	224	1	0	0	0	0	1	0	0	0	3398	943	33	2	1719	2	CHPF2	7	150935153	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	10433858	150935153	8203510	77	40909											
GALNT11	63917	broad.mit.edu	37	chr7	151798008	151798008	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagacacaaggaatgcagcgTatgtgccttatcggatttgc	11	10	11	9	2	0	1	0	0	0	1	1	3	0	3	1	2	4	2	1	2	4	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:151798008T>C	ENST00000434507.1	+	5	856		c.e5+2		GALNT11_ENST00000415421.1_Splice_Site|GALNT11_ENST00000452146.2_Splice_Site|GALNT11_ENST00000320311.2_Splice_Site|GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000430044.2_Splice_Site			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GAATGCAGCGTATGTGCCTTA	0.448													3	123					0	0	0	0	C	151798008	T	C	151798008	5	2	224	1	0	0	0	0	0	0	1	0	6258	1652	57	5	427	5	GALNT11	7	151798008	Splice_Site	SNP	T	TCGA-CV-5430-01A-02D-1683-08	862855	151798008	7340655	78	40910											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19315939	19315939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtgcgaacaaaccaacctGaaattctgcatgaactgccg	14	7	8	12	3	1	2	0	2	1	0	1	3	1	2	3	0	7	1	3	0	5	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:19315939G>A	ENST00000454498.2	-	5	1862	c.849C>T	c.(847-849)ttC>ttT	p.F283F	CSGALNACT1_ENST00000311540.4_Silent_p.F283F|CSGALNACT1_ENST00000544602.1_Silent_p.F283F|CSGALNACT1_ENST00000522854.1_Silent_p.F283F|CSGALNACT1_ENST00000332246.6_Silent_p.F283F|CSGALNACT1_ENST00000518542.1_5'UTR	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	283					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		AAACCAACCTGAAATTCTGCA	0.443													46	141					0	0	0	0	A	19315939	G	A	19315939	2	1	224	1	0	0	0	0	0	0	0	1	3970	1281	45	2		2	CSGALNACT1	8	19315939	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08		19315939	127048083	79	40911											
HR	55806	broad.mit.edu	37	chr8	21973860	21973860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggctgggtccctggtGgcagagctgagcagagaggg	8	5	21	7	0	0	3	0	1	0	2	1	5	1	4	1	6	2	4	1	6	1	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:21973860G>A	ENST00000381418.4	-	18	4940	c.3460C>T	c.(3460-3462)Cac>Tac	p.H1154Y	HR_ENST00000312841.8_Missense_Mutation_p.H1099Y	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1154	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGTCCCTGGTGGCAGAGCTGA	0.647													11	13					0	0	0	0	A	21973860	G	A	21973860	3	1	224	1	0	0	0	0	1	0	0	0	7397	1348	47	4	117	4	HR	8	21973860	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	2657921	21973860	124390162	80	40912											
NEFL	4747	broad.mit.edu	37	chr8	24813613	24813613	+	RNA	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcgcggatctcctgctcGtacagcgcccggaagcggga	7	6	15	13	6	1	0	0	0	1	0	4	3	1	3	2	4	4	2	2	4	2	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:24813613G>C	ENST00000221169.5	-	0	1011							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCTCCTGCTCGTACAGCGCCC	0.682													4	11					0	0	0	0	C	24813613	G	C	24813613	1	2	224	0	1	0	0	0	0	0	0	0	10385	1140	40	3		3	NEFL	8	24813613	RNA	SNP	G	TCGA-CV-5430-01A-02D-1683-08	2839753	24813613	121550409	81	40913											
ERLIN2	11160	broad.mit.edu	37	chr8	37595472	37595473	+	Frame_Shift_Ins	INS	-	-	T																															ggagcagttgtggctgtggcINSttccagtttcttttgtgcat																										TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:37595472_37595473insT	ENST00000276461.5	+	2	99_100	c.32_33insT	c.(31-33)gtcfs	p.V11fs	ERLIN2_ENST00000335171.6_Frame_Shift_Ins_p.V11fs|ERLIN2_ENST00000518586.1_Frame_Shift_Ins_p.V11fs|ERLIN2_ENST00000519638.1_Frame_Shift_Ins_p.V11fs|ERLIN2_ENST00000523887.1_Frame_Shift_Ins_p.V11fs|ERLIN2_ENST00000397228.2_Frame_Shift_Ins_p.V11fs|ERLIN2_ENST00000523107.1_Frame_Shift_Ins_p.V11fs	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	11					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTGGCTGTGGCTTCCAGTTTCT	0.5													10	171	---	---	---	---					T	37595473	-	T	37595472	7	5	224	1	0	1	1	0	0	0	0	0	5271	797	28	0	34	0	ERLIN2	8	37595472	Frame_Shift_Ins	INS	-	TCGA-CV-5430-01A-02D-1683-08	12781859	37595472	108768550	82	40914											
TGS1	96764	broad.mit.edu	37	chr8	56699563	56699563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtgaaccacgtaatggagGaaccaatgaggaaagcaact	18	5	11	7	1	0	2	0	2	0	0	0	5	0	5	2	3	4	2	2	3	7	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:56699563G>A	ENST00000260129.5	+	4	1583	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	369					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CGTAATGGAGGAACCAATGAG	0.438													5	52					0	0	0	0	A	56699563	G	A	56699563	3	1	224	1	0	0	0	0	1	0	0	0	15931	1174	41	2	1120	2	TGS1	8	56699563	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	19104091	56699563	89664459	83	40915											
ZFHX4	79776	broad.mit.edu	37	chr8	77616773	77616773	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactccaaagaaagtgggcaGaatgcacagactggggcaaa	16	4	13	8	0	0	3	0	0	0	3	1	4	1	3	1	3	1	3	1	3	4	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:77616773G>C	ENST00000521891.2	+	2	898	c.450G>C	c.(448-450)caG>caC	p.Q150H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q150H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q150H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q150H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGTGGGCAGAATGCACAGA	0.488										HNSCC(33;0.089)			27	21					0	0	0	0	C	77616773	G	C	77616773	3	2	224	1	0	0	0	0	1	0	0	0	17730	933	33	2	452	2	ZFHX4	8	77616773	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	20917210	77616773	68747249	84	40916											
TMEM64	169200	broad.mit.edu	37	chr8	91643854	91643854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cattgtccgcagggtggtacCcaagtaagaattcagaagct	12	9	11	9	1	1	2	1	0	0	2	2	2	2	2	2	2	2	4	2	2	5	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:91643854C>T	ENST00000458549.2	-	2	1054	c.877G>A	c.(877-879)Ggt>Agt	p.G293S	TMEM64_ENST00000519519.1_Missense_Mutation_p.G32S|TMEM64_ENST00000418210.2_Intron	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	293						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			AGGGTGGTACCCAAGTAAGAA	0.423													106	51					0	0	0	0	T	91643854	C	T	91643854	3	4	224	1	0	0	0	0	1	0	0	0	16287	623	22	4	273	4	TMEM64	8	91643854	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	14027081	91643854	54720168	85	40917											
KIAA1429	25962	broad.mit.edu	37	chr8	95507153	95507153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacatagatttcaactgatCatccatgacatcagcaagca	15	9	5	12	0	3	3	3	2	0	1	4	3	4	3	2	0	3	2	2	0	3	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:95507153C>T	ENST00000297591.5	-	20	4651	c.4576G>A	c.(4576-4578)Gat>Aat	p.D1526N	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1526					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTCAACTGATCATCCATGACA	0.318													6	291					0	0	0	0	T	95507153	C	T	95507153	3	4	224	1	0	0	0	0	1	0	0	0	8282	826	29	2	882	2	KIAA1429	8	95507153	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	3863299	95507153	50856869	86	40918											
VPS13B	157680	broad.mit.edu	37	chr8	100479733	100479733	+	Frame_Shift_Del	DEL	G	G	-																															ctttgcctagtggaacctatGggttgcacctccactctagc																										TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:100479733delG	ENST00000395996.1	+	24	3648	c.3537delG	c.(3535-3537)atfs	p.M1179fs	VPS13B_ENST00000358544.2_Frame_Shift_Del_p.M1179fs|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.M1179fs			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1179					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGAACCTATGGGTTGCACCT	0.443													85	348	---	---	---	---					-	100479733	G	-	100479733	7	5	224	1	0	1	0	1	0	0	0	0	17286	1348	47	0	3750	0	VPS13B	8	100479733	Frame_Shift_Del	DEL	G	TCGA-CV-5430-01A-02D-1683-08	4972580	100479733	45884289	87	40919											
KCNV1	27012	broad.mit.edu	37	chr8	110984685	110984685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggaagcgacacctgtcccGcacacacaggaagcggagga	13	3	13	12	3	0	0	0	0	0	0	1	5	1	4	2	4	2	1	2	4	3	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:110984685G>A	ENST00000524391.1	-	3	1825	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	265						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CACCTGTCCCGCACACACAGG	0.532													38	46					0	0	0	0	A	110984685	G	A	110984685	3	1	224	1	0	0	0	0	1	0	0	0	8147	1086	38	1	717	1	KCNV1	8	110984685	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	10504952	110984685	35379337	88	40920											
PTK2	5747	broad.mit.edu	37	chr8	141874416	141874416	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagtctctaatacctgttGatagaagaaattcaaagttg	15	12	8	6	0	2	3	1	1	1	2	3	3	2	3	1	0	2	3	1	0	6	6			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:141874416G>A	ENST00000522684.1	-	5	674	c.445C>T	c.(445-447)Caa>Taa	p.Q149*	PTK2_ENST00000521059.1_Nonsense_Mutation_p.Q149*|PTK2_ENST00000517887.1_Nonsense_Mutation_p.Q193*|PTK2_ENST00000535192.1_Nonsense_Mutation_p.Q149*|PTK2_ENST00000395218.2_Nonsense_Mutation_p.Q149*|PTK2_ENST00000519419.1_Nonsense_Mutation_p.Q193*|PTK2_ENST00000340930.3_Nonsense_Mutation_p.Q149*	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	149	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AATACCTGTTGATAGAAGAAA	0.264													11	134					0	0	0	0	A	141874416	G	A	141874416	4	1	224	1	0	0	0	0	0	1	0	0	12842	1299	45	2	2825	2	PTK2	8	141874416	Nonsense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	30889731	141874416	4489606	89	40921											
KIAA1432	57589	broad.mit.edu	37	chr9	5763345	5763345	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggatcatgctgcctttccAcatcaacatttacccgctag	9	11	7	14	2	2	0	2	0	0	0	3	1	3	1	3	1	4	2	3	1	3	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:5763345A>G	ENST00000414202.2	+	19	2509	c.2318A>G	c.(2317-2319)cAc>cGc	p.H773R	KIAA1432_ENST00000449720.2_Missense_Mutation_p.H657R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.H773R|KIAA1432_ENST00000418622.3_Missense_Mutation_p.H694R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.H694R	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	773						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTGCCTTTCCACATCAACATT	0.478													41	67					0	0	0	0	G	5763345	A	G	5763345	3	3	224	1	0	0	0	0	1	0	0	0	8284	159	6	5	2151	5	KIAA1432	9	5763345	Missense_Mutation	SNP	A	TCGA-CV-5430-01A-02D-1683-08		5763345	135450086	90	40922											
KIAA1432	57589	broad.mit.edu	37	chr9	5763371	5763371	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttacccgctagctgttCtgtttgaagatgctttagtc	8	16	8	9	1	1	2	0	1	1	1	2	2	1	2	1	0	3	5	1	0	4	7			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:5763371C>A	ENST00000414202.2	+	19	2535	c.2344C>A	c.(2344-2346)Ctg>Atg	p.L782M	KIAA1432_ENST00000449720.2_Missense_Mutation_p.L666M|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L782M|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L703M|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L703M	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	782						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GCTAGCTGTTCTGTTTGAAGA	0.478													47	82					1.32667e-27	1.54778e-27	1	0	A	5763371	C	A	5763371	3	1	224	1	0	0	0	0	1	0	0	0	8284	912	32	2	2177	2	KIAA1432	9	5763371	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	26	5763371	135450060	91	40923											
ZNF462	58499	broad.mit.edu	37	chr9	109688481	109688481	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcccaacagatatgggtaaGagataccagtgagccccaga	14	6	11	10	0	0	4	0	1	0	3	0	5	0	4	4	1	4	1	4	1	4	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:109688481G>C	ENST00000277225.5	+	3	2577	c.2288G>C	c.(2287-2289)aGa>aCa	p.R763T	ZNF462_ENST00000457913.1_Missense_Mutation_p.R763T			Q96JM2	ZN462_HUMAN	zinc finger protein 462	763					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATATGGGTAAGAGATACCAGT	0.488													7	30					0	0	0	0	C	109688481	G	C	109688481	3	2	224	1	0	0	0	0	1	0	0	0	18021	942	33	2	2294	2	ZNF462	9	109688481	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	103925110	109688481	31524950	92	40924											
EPB41L4B	54566	broad.mit.edu	37	chr9	111945031	111945031	+	Frame_Shift_Del	DEL	A	A	-																															taaactgtggccctgtggtgAaagtatcaggaaacgggttc																										TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:111945031delA	ENST00000374566.3	-	24	2982	c.2465delT	c.(2464-2466)tcfs	p.F822fs		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	822						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCTGTGGTGAAAGTATCAGG	0.418													63	50	---	---	---	---					-	111945031	A	-	111945031	7	5	224	1	0	1	0	1	0	0	0	0	5194	246	9	0	249	0	EPB41L4B	9	111945031	Frame_Shift_Del	DEL	A	TCGA-CV-5430-01A-02D-1683-08	2256550	111945031	29268400	93	40925											
HDHD3	81932	broad.mit.edu	37	chr9	116136274	116136274	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtgcggcactccctcaGggtgtcctcagccccatcca	5	8	10	18	2	2	0	2	0	0	0	5	0	5	0	6	2	2	1	6	2	0	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:116136274G>A	ENST00000238379.5	-	2	1258	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Silent_p.L121L	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	121							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CACTCCCTCAGGGTGTCCTCA	0.602													27	102					0	0	0	0	A	116136274	G	A	116136274	2	1	224	1	0	0	0	0	0	0	0	1	7074	991	35	4		4	HDHD3	9	116136274	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08	4191243	116136274	25077157	94	40926											
TNFSF8	944	broad.mit.edu	37	chr9	117666585	117666585	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgttccaagacaacttggTtttgtttagatgctttgcca	8	18	8	7	0	0	2	0	0	0	2	1	2	1	2	2	1	3	4	2	1	3	8			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:117666585T>C	ENST00000223795.2	-	4	444	c.331A>G	c.(331-333)Acc>Gcc	p.T111A	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	111					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GACAACTTGGTTTTGTTTAGA	0.378													48	46					0	0	0	0	C	117666585	T	C	117666585	3	2	224	1	0	0	0	0	1	0	0	0	16405	1725	60	5	377	5	TNFSF8	9	117666585	Missense_Mutation	SNP	T	TCGA-CV-5430-01A-02D-1683-08	1530311	117666585	23546846	95	40927											
STRBP	55342	broad.mit.edu	37	chr9	125909210	125909210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgccatccacatctacaGacattgtgaagactggggca	11	10	10	10	0	1	3	0	1	1	2	2	3	2	3	2	2	2	1	2	2	2	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:125909210G>T	ENST00000447404.2	-	12	1566	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y	STRBP_ENST00000360998.3_Missense_Mutation_p.S407Y|STRBP_ENST00000348403.5_Missense_Mutation_p.S421Y			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	421	DRBM 1.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CACATCTACAGACATTGTGAA	0.453													27	56					2.65835e-16	3.06841e-16	1	0	T	125909210	G	T	125909210	3	4	224	1	0	0	0	0	1	0	0	0	15417	942	33	2	784	2	STRBP	9	125909210	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	8242625	125909210	15304221	96	40928											
LRRC8A	56262	broad.mit.edu	37	chr9	131669481	131669481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccgctactttgcggacaCgcagccagcataccggatcc	8	7	10	16	4	0	0	0	0	0	0	2	2	2	2	4	2	5	4	4	2	2	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:131669481C>T	ENST00000259324.5	+	3	561	c.38C>T	c.(37-39)aCg>aTg	p.T13M	LRRC8A_ENST00000372599.3_Missense_Mutation_p.T13M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T13M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	13					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TTTGCGGACACGCAGCCAGCA	0.567													9	20					0	0	0	0	T	131669481	C	T	131669481	3	4	224	1	0	0	0	0	1	0	0	0	9085	536	19	1	40	1	LRRC8A	9	131669481	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	5760271	131669481	9543950	97	40929											
NET1	10276	broad.mit.edu	37	chr10	5498902	5498902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagacacagcccggcatccGaagagcgagggacaaagccc	13	1	12	15	3	0	2	0	0	0	2	1	5	1	3	4	2	3	1	4	2	2	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:5498902G>A	ENST00000355029.4	+	12	1878	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	NET1_ENST00000542715.1_Missense_Mutation_p.R398Q|NET1_ENST00000380359.3_Missense_Mutation_p.R525Q	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	579					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCCGGCATCCGAAGAGCGAGG	0.493													9	38					0	0	0	0	A	5498902	G	A	5498902	3	1	224	1	0	0	0	0	1	0	0	0	10408	1058	37	1	1879	1	NET1	10	5498902	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08		5498902	130035845	98	40930											
CACNB2	783	broad.mit.edu	37	chr10	18439891	18439891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgatactacctcaaataGttttgttcgccaggtaagag	12	13	8	8	1	2	2	1	1	1	1	3	2	2	2	2	1	2	3	2	1	5	7			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:18439891G>A	ENST00000282343.8	+	2	338	c.116G>A	c.(115-117)aGt>aAt	p.S39N	CACNB2_ENST00000377328.1_Missense_Mutation_p.S67N|CACNB2_ENST00000467034.1_3'UTR|CACNB2_ENST00000352115.6_Missense_Mutation_p.S67N|CACNB2_ENST00000377331.2_Missense_Mutation_p.S39N|CACNB2_ENST00000324631.7_Missense_Mutation_p.S67N	NM_001167945.1|NM_201571.3	NP_001161417.1|NP_963865.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	67					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACCTCAAATAGTTTTGTTCGC	0.313													8	78					0	0	0	0	A	18439891	G	A	18439891	3	1	224	1	0	0	0	0	1	0	0	0	2578	1029	36	4	246	4	CACNB2	10	18439891	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	12940989	18439891	117094856	99	40931											
C10orf71	118461	broad.mit.edu	37	chr10	50532323	50532323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccagaaggaccctacagCtgaccccagtgagccctctg	9	6	9	17	0	1	3	0	2	1	1	2	4	2	4	6	1	3	1	6	1	2	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:50532323C>T	ENST00000374144.3	+	3	2021	c.1733C>T	c.(1732-1734)gCt>gTt	p.A578V	C10orf71_ENST00000323868.4_Missense_Mutation_p.A578V			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	578										endometrium(1)	1						GACCCTACAGCTGACCCCAGT	0.547													14	8					0	0	0	0	T	50532323	C	T	50532323	3	4	224	1	0	0	0	0	1	0	0	0	1624	797	28	4	1735	4	C10orf71	10	50532323	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	32092432	50532323	85002424	100	40932											
STAMBPL1	57559	broad.mit.edu	37	chr10	90682924	90682924	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccaattttttctttcctaGatatgcaaacatgtgttggt	11	17	6	7	0	1	1	0	0	1	1	2	1	2	1	2	1	3	2	2	1	5	7			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:90682924G>C	ENST00000371926.3	+	11	2212		c.e11-1		STAMBPL1_ENST00000371924.1_Splice_Site|STAMBPL1_ENST00000371922.1_Splice_Site|STAMBPL1_ENST00000371927.3_Intron	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1								metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTCTTTCCTAGATATGCAAAC	0.313													6	20					0	0	0	0	C	90682924	G	C	90682924	5	2	224	1	0	0	0	0	0	0	1	0	15341	956	33	2	1292	2	STAMBPL1	10	90682924	Splice_Site	SNP	G	TCGA-CV-5430-01A-02D-1683-08	40150601	90682924	44851823	101	40933											
PNLIP	5406	broad.mit.edu	37	chr10	118306919	118306919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaaagatgtcaacaccCgcttcctcctatatactaat	13	11	3	14	1	1	1	1	0	0	1	4	1	4	1	4	0	2	1	4	0	7	5	rs142749694		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:118306919C>T	ENST00000369221.2	+	3	188	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	54					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.R54C(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGTCAACACCCGCTTCCTCCT	0.468													35	16					0	0	0	0	T	118306919	C	T	118306919	3	4	224	1	0	0	0	0	1	0	0	0	12221	652	23	1	166	1	PNLIP	10	118306919	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	27623995	118306919	17227828	102	40934											
HSPA12A	259217	broad.mit.edu	37	chr10	118434882	118434882	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcggcaaagccgcccaccaGaaagaggaacttgacggtgg	12	4	13	12	3	0	3	0	1	0	2	1	4	0	4	3	4	2	1	3	4	3	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:118434882G>C	ENST00000369209.3	-	12	1542	c.1438C>G	c.(1438-1440)Ctg>Gtg	p.L480V		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	480							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CCGCCCACCAGAAAGAGGAAC	0.622													4	12					0	0	0	0	C	118434882	G	C	118434882	3	2	224	1	0	0	0	0	1	0	0	0	7456	933	33	2	593	2	HSPA12A	10	118434882	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	127963	118434882	17099865	103	40935											
CPXM2	119587	broad.mit.edu	37	chr10	125526664	125526664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaccagcctcccagctccGagccctggagacaagtgaga	10	4	13	14	1	0	2	0	1	0	2	2	6	2	3	5	2	3	1	5	2	1	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:125526664G>A	ENST00000241305.3	-	10	1458	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	435					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TCCCAGCTCCGAGCCCTGGAG	0.552													21	22					0	0	0	0	A	125526664	G	A	125526664	3	1	224	1	0	0	0	0	1	0	0	0	3868	1059	37	1	986	1	CPXM2	10	125526664	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	7091782	125526664	10008083	104	40936											
C10orf137	26098	broad.mit.edu	37	chr10	127429569	127429569	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttccctccctttctaaacaGatacttattgctgcctctgc	7	15	4	15	0	2	1	0	0	2	1	4	1	4	1	3	0	5	1	3	0	4	6			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:127429569G>C	ENST00000337623.3	+	16	2173		c.e16-1		C10orf137_ENST00000356792.4_Splice_Site	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTCTAAACAGATACTTATTG	0.378													29	100					0	0	0	0	C	127429569	G	C	127429569	5	2	224	1	0	0	0	0	0	0	1	0	1604	956	33	2	2130	2	C10orf137	10	127429569	Splice_Site	SNP	G	TCGA-CV-5430-01A-02D-1683-08	1902905	127429569	8105178	105	40937											
SLC17A6	57084	broad.mit.edu	37	chr11	22363086	22363086	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcgcagggtgctggagaaGaagcaagacaccggggagac	12	2	17	10	3	0	4	0	0	0	4	0	6	0	4	2	4	2	3	2	4	3	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr11:22363086G>A	ENST00000263160.3	+	2	536	c.99G>A	c.(97-99)aaG>aaA	p.K33K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	33					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGCTGGAGAAGAAGCAAGACA	0.642													11	45					0	0	0	0	A	22363086	G	A	22363086	2	1	224	1	0	0	0	0	0	0	0	1	14509	933	33	2		2	SLC17A6	11	22363086	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08		22363086	112643430	106	40938											
SLC43A1	8501	broad.mit.edu	37	chr11	57268800	57268800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggtgttggtgctgctctCagctgaggagggggaaggga	6	9	21	5	0	1	1	1	1	1	0	2	4	1	4	0	7	3	4	0	7	1	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr11:57268800C>T	ENST00000278426.3	-	3	512	c.157G>A	c.(157-159)Gag>Aag	p.E53K	SLC43A1_ENST00000528450.1_Missense_Mutation_p.E53K	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	53					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GTGCTGCTCTCAGCTGAGGAG	0.607													5	34					0	0	0	0	T	57268800	C	T	57268800	3	4	224	1	0	0	0	0	1	0	0	0	14720	835	29	2	1574	2	SLC43A1	11	57268800	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	34905714	57268800	77737716	107	40939											
CORO1B	57175	broad.mit.edu	37	chr11	67208498	67208498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctcaagttccaggcagaGaagctaggaaccacaggcct	13	5	11	12	0	1	1	1	0	0	1	2	3	2	2	4	3	3	3	4	3	4	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr11:67208498G>A	ENST00000453768.2	-	6	924	c.854C>T	c.(853-855)tCt>tTt	p.S285F	CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000341356.5_Intron			Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	0					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCCAGGCAGAGAAGCTAGGAA	0.657													5	20					0	0	0	0	A	67208498	G	A	67208498	3	1	224	1	0	0	0	0	1	0	0	0	3784	957	33	2		2	CORO1B	11	67208498	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	9939698	67208498	67798018	108	40940											
VWA5A	4013	broad.mit.edu	37	chr11	123989062	123989062	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgcctctggaagcagAtggggctctgcgctttgtgc	5	10	16	10	1	2	1	0	0	2	1	2	3	2	3	1	4	5	4	1	4	1	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr11:123989062A>G	ENST00000456829.2	+	5	664	c.413A>G	c.(412-414)gAt>gGt	p.D138G	VWA5A_ENST00000392748.1_Missense_Mutation_p.D138G|VWA5A_ENST00000361352.5_Missense_Mutation_p.D138G|VWA5A_ENST00000392744.4_Missense_Mutation_p.D154G|VWA5A_ENST00000449321.1_Missense_Mutation_p.D138G|VWA5A_ENST00000360334.4_Missense_Mutation_p.D138G	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	138										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTGGAAGCAGATGGGGCTCTG	0.537													15	89					0	0	0	0	G	123989062	A	G	123989062	3	3	224	1	0	0	0	0	1	0	0	0	17338	333	12	5	423	5	VWA5A	11	123989062	Missense_Mutation	SNP	A	TCGA-CV-5430-01A-02D-1683-08	56780564	123989062	11017454	109	40941											
WNK1	65125	broad.mit.edu	37	chr12	977668	977669	+	Frame_Shift_Del	DEL	CT	CT	-																															gattgggtccgggatctcccCtctctagtatttctgcacct																										TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:977668_977669delCT	ENST00000537687.1	+	9	3419_3420	c.2776_2777delCT	c.(2776-2778)cfs	p.L926fs	WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Frame_Shift_Del_p.L1011fs|WNK1_ENST00000574564.1_Frame_Shift_Del_p.L225fs	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGGATCTCCCCTCTCTAGTATT	0.431													9	55	---	---	---	---					-	977669	CT	-	977668	7	5	224	1	0	1	0	1	0	0	0	0	17473	681	24	0	3069	0	WNK1	12	977668	Frame_Shift_Del	DEL	CT	TCGA-CV-5430-01A-02D-1683-08		977668	132874227	110	40942											
M6PR	4074	broad.mit.edu	37	chr12	9095069	9095069	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggaaactgctccattccTttggctcccactaccagtcg	7	11	9	14	1	0	0	0	0	0	0	4	1	3	1	4	3	3	2	4	3	2	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:9095069T>C	ENST00000000412.3	-	6	1122	c.654A>G	c.(652-654)aaA>aaG	p.K218K		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	218					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		GCTCCATTCCTTTGGCTCCCA	0.478													47	269					0	0	0	0	C	9095069	T	C	9095069	2	2	224	1	0	0	0	0	0	0	0	1	9205	1606	56	5		5	M6PR	12	9095069	Silent	SNP	T	TCGA-CV-5430-01A-02D-1683-08	8117401	9095069	124756826	111	40943											
ARID2	196528	broad.mit.edu	37	chr12	46245941	46245941	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaactcagaacaaatagaCatgcaagatatcaaaagtga	21	6	7	7	0	2	5	2	1	0	4	2	5	2	5	0	0	3	1	0	0	8	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:46245941C>A	ENST00000334344.6	+	15	4207	c.4035C>A	c.(4033-4035)gaC>gaA	p.D1345E	ARID2_ENST00000444670.1_Missense_Mutation_p.D955E|ARID2_ENST00000422737.1_Missense_Mutation_p.D1196E|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1345					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AACAAATAGACATGCAAGATA	0.363			"N, S, F"		hepatocellular carcinoma								11	35					0.0135373	0.0138566	1	0	A	46245941	C	A	46245941	3	1	224	1	0	0	0	0	1	0	0	0	917	477	17	4	4093	4	ARID2	12	46245941	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	37150872	46245941	87605954	112	40944											
TMBIM6	7009	broad.mit.edu	37	chr12	50135944	50135944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacactcctctgtgacacgcGaggctcctcagttacttagc	8	10	8	15	2	2	1	1	1	1	0	4	2	4	1	2	1	2	2	2	1	2	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:50135944G>C	ENST00000423828.1	+	1	353	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	TMBIM6_ENST00000552699.1_Missense_Mutation_p.E9Q|TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000549385.1_Intron	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	0					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		p.E9Q(1)		lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTGACACGCGAGGCTCCTCA	0.682													12	5					0	0	0	0	C	50135944	G	C	50135944	3	2	224	1	0	0	0	0	1	0	0	0	16077	1059	37	3	27	3	TMBIM6	12	50135944	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	3890003	50135944	83715951	113	40945											
ESPL1	9700	broad.mit.edu	37	chr12	53663848	53663848	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagggtactgctctcttctGcagcagctgcgggatgatgg	6	10	16	9	1	2	1	0	1	2	0	3	3	2	3	0	4	6	5	0	4	1	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:53663848G>A	ENST00000257934.4	+	3	1213	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	ESPL1_ENST00000552462.1_Silent_p.L374L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	374					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCTCTCTTCTGCAGCAGCTGC	0.537													23	11					0	0	0	0	A	53663848	G	A	53663848	2	1	224	1	0	0	0	0	0	0	0	1	5291	1306	46	4		4	ESPL1	12	53663848	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08	3527904	53663848	80188047	114	40946											
HOXC4	3221	broad.mit.edu	37	chr12	54448755	54448755	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacccgaaggagaaggatCgagatcgcccactcgctgtg	10	6	13	12	4	0	3	0	1	0	2	3	7	0	4	2	2	0	1	2	2	2	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:54448755C>A	ENST00000430889.2	+	2	607	c.561C>A	c.(559-561)atC>atA	p.I187I	HOXC4_ENST00000303406.4_Silent_p.I187I	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	187						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GGAGAAGGATCGAGATCGCCC	0.537													13	8					3.45872e-05	3.66118e-05	1	0	A	54448755	C	A	54448755	2	1	224	1	0	0	0	0	0	0	0	1	7363	874	31	3		3	HOXC4	12	54448755	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08	784907	54448755	79403140	115	40947											
GDF11	10220	broad.mit.edu	37	chr12	56143303	56143303	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatccattcatggagctTcgagtcctagagaacacaaa	14	8	8	11	1	1	1	1	0	0	1	4	4	3	2	2	1	3	2	2	1	3	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:56143303T>C	ENST00000257868.5	+	3	898	c.861T>C	c.(859-861)ctT>ctC	p.L287L		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	287					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						TCATGGAGCTTCGAGTCCTAG	0.572													3	64					0	0	0	0	C	56143303	T	C	56143303	2	2	224	1	0	0	0	0	0	0	0	1	6363	1770	62	5		5	GDF11	12	56143303	Silent	SNP	T	TCGA-CV-5430-01A-02D-1683-08	1694548	56143303	77708592	116	40948											
HNF1A	6927	broad.mit.edu	37	chr12	121426777	121426777	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggcactcccatgaagacGcagaagcgggccgccctgta	11	4	13	13	3	0	3	0	1	0	2	1	3	1	3	3	2	1	3	3	2	4	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:121426777G>A	ENST00000257555.6	+	2	694	c.468G>A	c.(466-468)acG>acA	p.T156T	HNF1A_ENST00000543427.1_Silent_p.T39T|HNF1A_ENST00000544413.1_Silent_p.T156T|HNF1A_ENST00000402929.1_Silent_p.T156T|HNF1A_ENST00000400024.2_Silent_p.T156T|HNF1A_ENST00000541395.1_Silent_p.T156T|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	156	Interaction with DNA.				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCATGAAGACGCAGAAGCGGG	0.622									Hepatic Adenoma, Familial Clustering of				10	19					0	0	0	0	A	121426777	G	A	121426777	2	1	224	1	0	0	0	0	0	0	0	1	7301	1074	38	1		1	HNF1A	12	121426777	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08	65283474	121426777	12425118	117	40949											
BRCA2	675	broad.mit.edu	37	chr13	32913203	32913203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagaccctaaagtacagaGaggcctgtaaagaccttgaa	17	6	9	9	0	0	4	0	1	0	3	0	5	0	4	3	1	1	2	3	1	7	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr13:32913203G>A	ENST00000544455.1	+	11	4938	c.4711G>A	c.(4711-4713)Gag>Aag	p.E1571K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E1571K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1571					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAGTACAGAGAGGCCTGTAA	0.383			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			45	31					0	0	0	0	A	32913203	G	A	32913203	3	1	224	1	0	0	0	0	1	0	0	0	1507	943	33	2	4749	2	BRCA2	13	32913203	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08		32913203	82256675	118	40950											
DNAJC15	29103	broad.mit.edu	37	chr13	43643083	43643083	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtcgctacgcatttcggAtctggaaacctctagaacaa	12	10	9	10	3	2	1	0	0	2	1	4	3	2	3	1	3	3	2	1	3	6	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr13:43643083A>T	ENST00000379221.2	+	3	602	c.178A>T	c.(178-180)Atc>Ttc	p.I60F	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	60						integral to membrane	heat shock protein binding			endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		CGCATTTCGGATCTGGAAACC	0.333													7	12					0	0	0	0	T	43643083	A	T	43643083	3	4	224	1	0	0	0	0	1	0	0	0	4670	333	12	5	188	5	DNAJC15	13	43643083	Missense_Mutation	SNP	A	TCGA-CV-5430-01A-02D-1683-08	10729880	43643083	71526795	119	40951											
LRRC16B	90668	broad.mit.edu	37	chr14	24532038	24532038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaggagaccacagatgatGaacttgggaccaacattgtg	14	8	12	7	0	0	5	0	3	0	2	0	7	0	6	2	2	2	0	2	2	2	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr14:24532038G>A	ENST00000342740.5	+	29	2843	c.2689G>A	c.(2689-2691)Gaa>Aaa	p.E897K	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	897										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CACAGATGATGAACTTGGGAC	0.597													8	85					0	0	0	0	A	24532038	G	A	24532038	3	1	224	1	0	0	0	0	1	0	0	0	9036	1291	45	2	2803	2	LRRC16B	14	24532038	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08		24532038	82817502	120	40952											
NRL	4901	broad.mit.edu	37	chr14	24551828	24551829	+	In_Frame_Ins	INS	-	-	GGT																															ccccagctgctgctgcagggINStagccagccagtacagctcc																										TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr14:24551828_24551829insGGT	ENST00000561028.1	-	2	548_549	c.229_230insACC	c.(229-231)cct>ACCcct	p.77_78insT	NRL_ENST00000396997.1_In_Frame_Ins_p.77_78insT|NRL_ENST00000397002.2_In_Frame_Ins_p.77_78insT			P54845	NRL_HUMAN	neural retina leucine zipper	77					response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		CTGCTGCAGGGTAGCCAGCCAG	0.658													9	54	---	---	---	---					GGT	24551829	-	GGT	24551828	7	5	224	1	0	1	1	0	0	0	0	0	10727	1261	44	0	491	0	NRL	14	24551828	In_Frame_Ins	INS	-	TCGA-CV-5430-01A-02D-1683-08	19790	24551828	82797712	121	40953											
ADCY4	196883	broad.mit.edu	37	chr14	24789048	24789048	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actccttgaagtctgggactGaggcgaagaggacacaaacg	13	6	13	9	2	1	3	0	2	1	1	2	6	2	5	1	3	1	0	1	3	3	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr14:24789048G>C	ENST00000310677.4	-	22	2746	c.2633C>G	c.(2632-2634)tCa>tGa	p.S878*	ADCY4_ENST00000554068.2_Nonsense_Mutation_p.S878*|ADCY4_ENST00000418030.2_Nonsense_Mutation_p.S878*	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	878					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GTCTGGGACTGAGGCGAAGAG	0.493													6	76					0	0	0	0	C	24789048	G	C	24789048	4	2	224	1	0	0	0	0	0	1	0	0	296	1294	45	2	620	2	ADCY4	14	24789048	Nonsense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	237220	24789048	82560492	122	40954											
SIPA1L1	26037	broad.mit.edu	37	chr14	72169178	72169178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggcagcggaaaatccaCgcctagctggcaaagaagtg	12	6	14	9	2	0	1	0	0	0	1	1	2	1	2	2	4	2	3	2	4	5	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr14:72169178C>T	ENST00000555818.1	+	12	3950	c.3602C>T	c.(3601-3603)aCg>aTg	p.T1201M	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T1201M|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T1201M|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T676M|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1201					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAAAATCCACGCCTAGCTGG	0.478													8	27					0	0	0	0	T	72169178	C	T	72169178	3	4	224	1	0	0	0	0	1	0	0	0	14417	536	19	1	3644	1	SIPA1L1	14	72169178	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	47380130	72169178	35180362	123	40955											
GABRB3	2562	broad.mit.edu	37	chr15	26806279	26806279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattttgggcaaggtctcccGaaggtgggtgttgatggttg	6	13	17	5	1	1	1	0	1	1	0	2	3	1	1	1	5	0	3	1	5	2	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr15:26806279G>A	ENST00000541819.2	-	9	1150	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	GABRB3_ENST00000545868.1_Missense_Mutation_p.R209W|GABRB3_ENST00000299267.4_Missense_Mutation_p.R294W|GABRB3_ENST00000311550.5_Missense_Mutation_p.R294W|GABRB3_ENST00000400188.3_Missense_Mutation_p.R223W			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	294					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	AAGGTCTCCCGAAGGTGGGTG	0.473													12	47					0	0	0	0	A	26806279	G	A	26806279	3	1	224	1	0	0	0	0	1	0	0	0	6216	1057	37	1	549	1	GABRB3	15	26806279	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08		26806279	75725113	124	40956											
FSIP1	161835	broad.mit.edu	37	chr15	40057834	40057834	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattctcatttctagaccttGcttcttaatttctttttctc	6	23	2	10	0	5	1	1	0	5	1	7	1	5	1	1	0	1	1	1	0	3	10			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr15:40057834G>C	ENST00000350221.3	-	4	633	c.424C>G	c.(424-426)Caa>Gaa	p.Q142E		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	142										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TCTAGACCTTGCTTCTTAATT	0.323													8	25					0	0	0	0	C	40057834	G	C	40057834	3	2	224	1	0	0	0	0	1	0	0	0	6122	1328	46	4	1357	4	FSIP1	15	40057834	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	13251555	40057834	62473558	125	40957											
BAHD1	22893	broad.mit.edu	37	chr15	40750963	40750963	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacctgcccaagcccccCagcccggccccatccagtga	7	4	8	22	1	0	2	0	2	0	0	1	2	1	2	10	1	3	0	10	1	1	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr15:40750963C>G	ENST00000561234.1	+	2	559	c.300C>G	c.(298-300)ccC>ccG	p.P100P	BAHD1_ENST00000560846.1_Silent_p.P100P|BAHD1_ENST00000416165.1_Silent_p.P100P			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	100					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCAAGCCCCCCAGCCCGGCCC	0.657													4	41					0	0	0	0	G	40750963	C	G	40750963	2	3	224	1	0	0	0	0	0	0	0	1	1301	581	21	4		4	BAHD1	15	40750963	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08	693129	40750963	61780429	126	40958											
C16orf11	146325	broad.mit.edu	37	chr16	615181	615181	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcgtcccacccccagggctCcccctcgcagccccagatga	7	4	9	21	2	0	2	0	1	0	1	3	2	2	2	7	1	2	2	7	1	0	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:615181C>G	ENST00000409413.3	+	3	1869	c.1590C>G	c.(1588-1590)ctC>ctG	p.L530L		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	530										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCCAGGGCTCCCCCTCGCAG	0.692													11	16					0	0	0	0	G	615181	C	G	615181	2	3	224	1	0	0	0	0	0	0	0	1	1823	842	30	2		2	C16orf11	16	615181	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08		615181	89739572	127	40959											
MSLNL	401827	broad.mit.edu	37	chr16	825511	825511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagcagctgagctgggcaGaacggcgctccctcgtgact	8	6	13	14	3	0	3	0	2	0	1	2	3	1	3	2	2	4	5	2	2	2	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:825511G>C	ENST00000293892.3	-	5	1249	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	115					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GAGCTGGGCAGAACGGCGCTC	0.682													6	14					0	0	0	0	C	825511	G	C	825511	3	2	224	1	0	0	0	0	1	0	0	0	9952	942	33	2	1959	2	MSLNL	16	825511	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	210330	825511	89529242	128	40960											
TPSAB1	7177	broad.mit.edu	37	chr16	1291244	1291244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgagcctgagagtccAcggcccatactggatgcact	9	7	13	12	1	0	2	0	2	0	1	1	4	1	3	3	3	3	2	3	3	1	1	rs150845192		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr16:1291244A>G	ENST00000461509.2	+	2	367	c.173A>G	c.(172-174)cAc>cGc	p.H58R	TPSAB1_ENST00000338844.3_Missense_Mutation_p.H51R			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	51	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	p.H51R(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CTGAGAGTCCACGGCCCATAC	0.711													4	68					0	0	0	0	G	1291244	A	G	1291244	3	3	224	1	0	0	0	0	1	0	0	0	16518	159	6	5	158	5	TPSAB1	16	1291244	Missense_Mutation	SNP	A	TCGA-CV-5430-01A-02D-1683-08	465733	1291244	89063509	129	40961											
ZNF598	90850	broad.mit.edu	37	chr16	2053040	2053040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaagagctcatgctgcctCcgcatgtgctgctccaggtc	7	9	11	14	1	1	2	1	0	0	2	4	2	3	2	3	1	5	5	3	1	1	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr16:2053040C>T	ENST00000563630.1	-	3	494	c.252G>A	c.(250-252)cgG>cgA	p.R84R	ZNF598_ENST00000431526.1_Silent_p.R139R|ZNF598_ENST00000562103.1_Silent_p.R84R			Q86UK7	ZN598_HUMAN	zinc finger protein 598	139						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CATGCTGCCTCCGCATGTGCT	0.677													4	6					0	0	0	0	T	2053040	C	T	2053040	2	4	224	1	0	0	0	0	0	0	0	1	18123	842	30	2		2	ZNF598	16	2053040	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08	761796	2053040	88301713	130	40962											
ZNF598	90850	broad.mit.edu	37	chr16	2053657	2053657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatctgcaaagtagatatCatatttcttctcatgctgca	11	15	5	10	0	4	1	2	0	3	1	6	1	5	1	1	0	3	4	1	0	4	5			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:2053657C>T	ENST00000563630.1	-	2	372	c.130G>A	c.(130-132)Gat>Aat	p.D44N	ZNF598_ENST00000431526.1_Missense_Mutation_p.D99N|ZNF598_ENST00000562103.1_Missense_Mutation_p.D44N			Q86UK7	ZN598_HUMAN	zinc finger protein 598	99						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AAGTAGATATCATATTTCTTC	0.547											OREG0023548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	42					0	0	0	0	T	2053657	C	T	2053657	3	4	224	1	0	0	0	0	1	0	0	0	18123	826	29	2	2463	2	ZNF598	16	2053657	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	617	2053657	88301096	131	40963											
PPL	5493	broad.mit.edu	37	chr16	4934903	4934903	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtccacgatctcctccctGagccgctgaagctccttctc	5	12	7	17	2	2	2	0	2	2	0	7	3	5	2	5	0	2	2	5	0	1	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:4934903G>C	ENST00000345988.2	-	22	3842	c.3753C>G	c.(3751-3753)ctC>ctG	p.L1251L	PPL_ENST00000590782.2_Silent_p.L1249L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1251					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTCCTCCCTGAGCCGCTGAA	0.522													14	59					0	0	0	0	C	4934903	G	C	4934903	2	2	224	1	0	0	0	0	0	0	0	1	12410	1277	45	2		2	PPL	16	4934903	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08	2881246	4934903	85419850	132	40964											
ACSM3	6296	broad.mit.edu	37	chr16	20781560	20781560	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaagatgtcctggaccaatgGactgataaggaaaaggtatg	16	8	12	5	0	0	2	0	1	0	1	1	5	1	5	2	4	0	1	2	4	6	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:20781560G>A	ENST00000289416.5	+	2	679	c.204G>A	c.(202-204)tgG>tgA	p.W68*	ACSM3_ENST00000440284.2_Nonsense_Mutation_p.W68*|ACSM3_ENST00000450120.2_Nonsense_Mutation_p.W23*	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	68					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGGACCAATGGACTGATAAGG	0.428													4	30					0	0	0	0	A	20781560	G	A	20781560	4	1	224	1	0	0	0	0	0	1	0	0	185	1183	41	2	206	2	ACSM3	16	20781560	Nonsense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	15846657	20781560	69573193	133	40965											
CD2BP2	10421	broad.mit.edu	37	chr16	30364880	30364880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccgggccaccatctggtcgGccaacccggagagccggtcc	6	4	13	18	4	1	1	0	0	1	1	3	2	2	1	7	5	2	0	7	5	1	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:30364880G>A	ENST00000305596.3	-	5	792	c.617C>T	c.(616-618)gCc>gTc	p.A206V	CD2BP2_ENST00000569466.1_Missense_Mutation_p.A206V	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	206					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CATCTGGTCGGCCAACCCGGA	0.657													3	22					0	0	0	0	A	30364880	G	A	30364880	3	1	224	1	0	0	0	0	1	0	0	0	3024	1203	42	4	420	4	CD2BP2	16	30364880	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	9583320	30364880	59989873	134	40966											
ZNF689	115509	broad.mit.edu	37	chr16	30621254	30621254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccactcctccggggagaagtAcacggccacgtccacgaact	10	5	10	16	4	0	1	0	0	0	1	3	3	3	1	5	3	2	1	5	3	3	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:30621254A>G	ENST00000287461.3	-	1	446	c.109T>C	c.(109-111)Tac>Cac	p.Y37H	ZNF689_ENST00000566673.1_Intron	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GGGGAGAAGTACACGGCCACG	0.692													2	11					0	0	0	0	G	30621254	A	G	30621254	3	3	224	1	0	0	0	0	1	0	0	0	18189	391	14	5	1405	5	ZNF689	16	30621254	Missense_Mutation	SNP	A	TCGA-CV-5430-01A-02D-1683-08	256374	30621254	59733499	135	40967											
KLHDC4	54758	broad.mit.edu	37	chr16	87744911	87744911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcgttgaagaactcgcccGacaggctctcctcctcttcc	7	10	8	16	3	2	2	0	1	2	1	7	4	4	2	4	1	1	2	4	1	2	2	rs113844965		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:87744911G>A	ENST00000270583.5	-	9	1032	c.974C>T	c.(973-975)tCg>tTg	p.S325L	KLHDC4_ENST00000347925.5_Missense_Mutation_p.S294L|KLHDC4_ENST00000353170.5_Missense_Mutation_p.S268L|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	325										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GAACTCGCCCGACAGGCTCTC	0.582													9	33					0	0	0	0	A	87744911	G	A	87744911	3	1	224	1	0	0	0	0	1	0	0	0	8410	1059	37	1	600	1	KLHDC4	16	87744911	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	57123657	87744911	2609842	136	40968											
SPG7	6687	broad.mit.edu	37	chr16	89603249	89603249	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccccgcctgctcctgtctCacggagcccacagggtcacg	6	6	10	19	3	2	0	2	0	1	0	4	1	3	1	5	2	2	1	5	2	0	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:89603249C>G	ENST00000341316.2	+	10	1408	c.1401C>G	c.(1399-1401)ctC>ctG	p.L467L	SPG7_ENST00000268704.2_Intron	NM_199367.1	NP_955399.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	347					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCTCCTGTCTCACGGAGCCCA	0.582													31	146					0	0	0	0	G	89603249	C	G	89603249	2	3	224	1	0	0	0	0	0	0	0	1	15134	813	29	2		2	SPG7	16	89603249	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08	1858338	89603249	751504	137	40969											
OR1E1	8387	broad.mit.edu	37	chr17	3301357	3301357	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcggtcataggccatggcCacaaggaggaagctctccag	11	6	13	11	1	2	0	1	0	1	0	3	2	2	2	3	5	2	1	3	5	4	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:3301357C>T	ENST00000322608.2	-	1	347	c.348G>A	c.(346-348)gtG>gtA	p.V116V		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						AGGCCATGGCCACAAGGAGGA	0.577													13	26					0	0	0	0	T	3301357	C	T	3301357	2	4	224	1	0	0	0	0	0	0	0	1	11025	581	21	4		4	OR1E1	17	3301357	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08		3301357	77893853	138	40970											
GSG2	83903	broad.mit.edu	37	chr17	3629572	3629572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggagttccacaggacaatGctgaacttcagctctgccac	11	8	9	13	0	2	1	1	1	1	0	3	3	3	3	2	2	4	3	2	2	2	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:3629572G>A	ENST00000325418.4	+	1	2362	c.2343G>A	c.(2341-2343)atG>atA	p.M781I	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	781	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										ACAGGACAATGCTGAACTTCA	0.433													11	34					0	0	0	0	A	3629572	G	A	3629572	3	1	224	1	0	0	0	0	1	0	0	0	6872	1319	46	4	2345	4	GSG2	17	3629572	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	328215	3629572	77565638	139	40971											
ZZEF1	23140	broad.mit.edu	37	chr17	3961378	3961378	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacaaagaaggcgagatcaTtgggttcccagcccatatcc	13	7	9	12	1	1	2	1	0	0	2	3	3	3	2	3	2	2	1	3	2	4	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:3961378T>C	ENST00000381638.2	-	32	5199	c.5075A>G	c.(5074-5076)aAt>aGt	p.N1692S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1692							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGCGAGATCATTGGGTTCCCA	0.458													10	23					0	0	0	0	C	3961378	T	C	3961378	3	2	224	1	0	0	0	0	1	0	0	0	18346	1493	52	5	3906	5	ZZEF1	17	3961378	Missense_Mutation	SNP	T	TCGA-CV-5430-01A-02D-1683-08	331806	3961378	77233832	140	40972											
NLRP1	22861	broad.mit.edu	37	chr17	5486123	5486123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggttggctgggagacccCaggtggggttcacttgggct	4	10	19	8	0	1	1	1	0	0	1	1	2	1	1	2	7	0	4	2	7	0	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:5486123C>T	ENST00000345221.3	-	2	869	c.315G>A	c.(313-315)ctG>ctA	p.L105L	NLRP1_ENST00000577119.1_Silent_p.L105L|NLRP1_ENST00000262467.5_Silent_p.L105L|NLRP1_ENST00000354411.3_Silent_p.L105L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.L105L|NLRP1_ENST00000572272.1_Silent_p.L105L	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	105					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGGGAGACCCCAGGTGGGGTT	0.602													3	32					0	0	0	0	T	5486123	C	T	5486123	2	4	224	1	0	0	0	0	0	0	0	1	10541	581	21	4		4	NLRP1	17	5486123	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08	1524745	5486123	75709087	141	40973											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	32					0	0	0	0	A	7577094	G	A	7577094	3	1	224	1	0	0	0	0	1	0	0	0	16476	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	2090971	7577094	73618116	142	40974											
TP53	7157	broad.mit.edu	37	chr17	7579410	7579420	+	Frame_Shift_Del	DEL	GGGGCCAGGAG	GGGGCCAGGAG	-																															ggaagggacagaagatgacaGgggccaggagggggctggtg																										TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:7579410_7579420delGGGGCCAGGAG	ENST00000420246.2	-	4	399_409	c.267_277delCTCCTGGCCCC	c.(265-279)cctgfs	p.PSWPL89fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PSWPL89fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	89	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W91*(20)|p.0?(8)|p.S90fs*59(6)|p.L93fs*30(5)|p.A88fs*32(3)|p.A76_S90del15(3)|p.G59fs*23(3)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.P92fs*57(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P13fs*18(1)|p.S90F(1)|p.P92A(1)|p.P92L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAAGATGACAGGGGCCAGGAGGGGGCTGGTG	0.626		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	52	---	---	---	---					-	7579420	GGGGCCAGGAG	-	7579410	7	5	224	1	0	1	0	1	0	0	0	0	16476	991	35	0	1025	0	TP53	17	7579410	Frame_Shift_Del	DEL	GGGGCCAGGAG	TCGA-CV-5430-01A-02D-1683-08	2316	7579410	73615800	143	40975											
DNAH2	146754	broad.mit.edu	37	chr17	7667311	7667311	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagatggctgctgggcgcctCctggagctgcacacctacct	6	8	13	14	1	0	1	0	0	0	1	1	3	1	2	4	3	4	4	4	3	1	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:7667311C>G	ENST00000572933.1	+	19	4601	c.3141C>G	c.(3139-3141)ctC>ctG	p.L1047L	DNAH2_ENST00000389173.2_Silent_p.L1047L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1047	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGGGCGCCTCCTGGAGCTGC	0.622													7	49					0	0	0	0	G	7667311	C	G	7667311	2	3	224	1	0	0	0	0	0	0	0	1	4639	842	30	2		2	DNAH2	17	7667311	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08	87901	7667311	73527899	144	40976											
MYH3	4621	broad.mit.edu	37	chr17	10545560	10545560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttgtatttttcttaccctGaaaagggcagagacagtttg	11	14	9	7	0	1	2	0	1	1	1	1	3	1	2	1	1	1	3	1	1	4	6			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:10545560G>A	ENST00000583535.1	-	17	2043	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	MYH3_ENST00000226209.7_Silent_p.F652F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	652	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTTACCCTGAAAAGGGCAG	0.388													8	32					0	0	0	0	A	10545560	G	A	10545560	2	1	224	1	0	0	0	0	0	0	0	1	10106	1281	45	2		2	MYH3	17	10545560	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08	2878249	10545560	70649650	145	40977											
KRTAP1-5	83895	broad.mit.edu	37	chr17	39183231	39183231	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcttggctggcagcaActggagctgcaggtcccact	8	7	13	13	0	0	0	0	0	0	0	1	1	1	1	1	4	6	7	1	4	1	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:39183231A>G	ENST00000361883.5	-	1	223	c.177T>C	c.(175-177)agT>agC	p.S59S		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	59	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGCAGCAACTGGAGCTGC	0.617													4	53					0	0	0	0	G	39183231	A	G	39183231	2	3	224	1	0	0	0	0	0	0	0	1	8556	40	2	5		5	KRTAP1-5	17	39183231	Silent	SNP	A	TCGA-CV-5430-01A-02D-1683-08	28637671	39183231	42011979	146	40978											
NBR1	4077	broad.mit.edu	37	chr17	41347008	41347008	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcctttgagctgttggatAtaaacattgttcaagagttg	10	16	10	5	0	1	2	1	1	0	1	2	3	2	3	1	1	2	4	1	1	4	7			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:41347008A>G	ENST00000422280.1	+	14	2161	c.1702A>G	c.(1702-1704)Ata>Gta	p.I568V	NBR1_ENST00000341165.6_Missense_Mutation_p.I568V|NBR1_ENST00000589872.1_Missense_Mutation_p.I568V|NBR1_ENST00000590996.1_Missense_Mutation_p.I568V|NBR1_ENST00000542611.1_Missense_Mutation_p.I547V|NBR1_ENST00000389312.4_Missense_Mutation_p.I568V	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	568	ATG8 family protein-binding.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GCTGTTGGATATAAACATTGT	0.438													8	26					0	0	0	0	G	41347008	A	G	41347008	3	3	224	1	0	0	0	0	1	0	0	0	10270	449	16	5	1752	5	NBR1	17	41347008	Missense_Mutation	SNP	A	TCGA-CV-5430-01A-02D-1683-08	2163777	41347008	39848202	147	40979											
MPP3	4356	broad.mit.edu	37	chr17	41888554	41888554	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actccttccttctcatggctCtttcggggcctggtggtatc	3	15	10	13	1	2	0	1	0	2	0	7	0	4	0	3	5	0	2	3	5	1	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:41888554C>G	ENST00000398393.1	-	15	1610	c.1350G>C	c.(1348-1350)aaG>aaC	p.K450N	MPP3_ENST00000398389.4_Missense_Mutation_p.K425N			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	425	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TCTCATGGCTCTTTCGGGGCC	0.488													12	47					0	0	0	0	G	41888554	C	G	41888554	3	3	224	1	0	0	0	0	1	0	0	0	9805	912	32	2	498	2	MPP3	17	41888554	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	541546	41888554	39306656	148	40980											
ITGA3	3675	broad.mit.edu	37	chr17	48145541	48145541	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagtgatgactggcagaCctaccacaacgagatgtgca	12	7	10	12	1	0	4	0	2	0	2	1	5	1	4	3	1	3	2	3	1	2	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:48145541C>G	ENST00000320031.8	+	4	866	c.536C>G	c.(535-537)aCc>aGc	p.T179S	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.T179S	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	179					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GACTGGCAGACCTACCACAAC	0.582													8	85					0	0	0	0	G	48145541	C	G	48145541	3	3	224	1	0	0	0	0	1	0	0	0	7930	507	18	4	550	4	ITGA3	17	48145541	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	6256987	48145541	33049669	149	40981											
USH1G	124590	broad.mit.edu	37	chr17	72915717	72915717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcctgccgcaggagggcgGcaaagtcctccatgtgcaga	8	7	13	13	2	1	1	0	0	1	1	4	2	3	2	4	3	2	3	4	3	1	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:72915717G>A	ENST00000319642.1	-	2	1396	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	405	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CAGGAGGGCGGCAAAGTCCTC	0.627													4	60					0	0	0	0	A	72915717	G	A	72915717	3	1	224	1	0	0	0	0	1	0	0	0	17131	1203	42	4	179	4	USH1G	17	72915717	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	24770176	72915717	8279493	150	40982											
TNRC6C	57690	broad.mit.edu	37	chr17	76045225	76045225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcaccaatggcgcactcGtccaaagcccttctaatcag	11	8	8	14	2	2	0	1	0	1	0	4	0	3	0	3	2	1	2	3	2	3	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:76045225G>A	ENST00000335749.4	+	3	651	c.82G>A	c.(82-84)Gtc>Atc	p.V28I	TNRC6C_ENST00000541771.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V28I	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	28	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGCGCACTCGTCCAAAGCCC	0.557													11	59					0	0	0	0	A	76045225	G	A	76045225	3	1	224	1	0	0	0	0	1	0	0	0	16436	1145	40	1	84	1	TNRC6C	17	76045225	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	3129508	76045225	5149985	151	40983											
ALPK2	115701	broad.mit.edu	37	chr18	56184167	56184167	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgagtttgtagttcctttgGatgagctcatcattatttct	7	18	9	7	1	3	1	2	1	1	0	4	3	4	2	1	1	1	4	1	1	2	6	rs61732436		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr18:56184167G>T	ENST00000361673.3	-	9	6126	c.5913C>A	c.(5911-5913)atC>atA	p.I1971I		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1971	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			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						AGTTCCTTTGGATGAGCTCAT	0.502													18	73					2.37509e-13	2.72696e-13	1	0	T	56184167	G	T	56184167	2	4	224	1	0	0	0	0	0	0	0	1	545	1164	41	2		2	ALPK2	18	56184167	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08		56184167	21893081	152	40984											
MC4R	4160	broad.mit.edu	37	chr18	58038766	58038766	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacacacaatatggattctGaggacaagagatgtagaata	17	8	10	6	0	1	3	0	1	1	2	1	6	1	5	0	2	0	2	0	2	6	4			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr18:58038766G>A	ENST00000299766.3	-	1	1235	c.817C>T	c.(817-819)Cag>Tag	p.Q273*		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	273					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TATGGATTCTGAGGACAAGAG	0.423													13	51					0	0	0	0	A	58038766	G	A	58038766	4	1	224	1	0	0	0	0	0	1	0	0	9435	1299	45	2	185	2	MC4R	18	58038766	Nonsense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	1854599	58038766	20038482	153	40985											
CREB3L3	84699	broad.mit.edu	37	chr19	4171169	4171169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccagacaggcacctgtgtCgcagtgagtcctggtgcccc	6	7	13	15	1	0	2	0	1	0	1	2	2	1	2	5	2	1	2	5	2	0	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:4171169C>T	ENST00000602147.1	+	7	945	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	CREB3L3_ENST00000602257.1_Silent_p.V322V|CREB3L3_ENST00000595923.1_Silent_p.V323V|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000078445.2_Silent_p.V324V			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	0	Leucine-zipper.				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCTGTGTCGCAGTGAGTC	0.602													21	23					0	0	0	0	T	4171169	C	T	4171169	3	4	224	1	0	0	0	0	1	0	0	0	3888	871	31	1	1002	1	CREB3L3	19	4171169	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08		4171169	54957814	154	40986											
FDX1L	112812	broad.mit.edu	37	chr19	10426650	10426650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaccctggcactcacgcctCcccgggccatggaggcggcc	6	4	13	18	3	1	0	1	0	0	0	2	2	2	1	6	5	1	1	6	5	1	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:10426650C>T	ENST00000541276.1	-	1	35	c.32G>A	c.(31-33)gGa>gAa	p.G11E	FDX1L_ENST00000393708.3_Missense_Mutation_p.G8E|CTD-2369P2.12_ENST00000586529.1_Intron|FDX1L_ENST00000494368.1_5'UTR|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.G8E			Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	8					electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			ACTCACGCCTCCCCGGGCCAT	0.662													3	13					0	0	0	0	T	10426650	C	T	10426650	3	4	224	1	0	0	0	0	1	0	0	0	5850	855	30	2	548	2	FDX1L	19	10426650	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	6255481	10426650	48702333	155	40987											
LDLR	3949	broad.mit.edu	37	chr19	11224240	11224240	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacagagcccacggcgtctCttcctatgacaccgtcatca	9	9	8	15	3	3	3	2	2	1	1	5	3	4	3	3	1	1	0	3	1	1	2			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:11224240C>G	ENST00000558518.1	+	10	1575	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	LDLR_ENST00000557933.1_Missense_Mutation_p.S463C|LDLR_ENST00000535915.1_Missense_Mutation_p.S422C|LDLR_ENST00000455727.2_Missense_Mutation_p.S295C|LDLR_ENST00000558013.1_Missense_Mutation_p.S463C|LDLR_ENST00000545707.1_Missense_Mutation_p.S336C	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	463					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CACGGCGTCTCTTCCTATGAC	0.632													10	27					0	0	0	0	G	11224240	C	G	11224240	3	3	224	1	0	0	0	0	1	0	0	0	8757	913	32	2	1426	2	LDLR	19	11224240	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	797590	11224240	47904743	156	40988											
ZNF208	7757	broad.mit.edu	37	chr19	22157311	22157311	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgatctgacgtattctttAcattgcaaatgtttctttcc	10	18	5	8	1	3	2	0	2	3	0	4	2	4	2	1	0	2	3	1	0	4	7			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:22157311A>C	ENST00000397126.4	-	4	673	c.525T>G	c.(523-525)tgT>tgG	p.C175W	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CGTATTCTTTACATTGCAAAT	0.328													8	41					0	0	0	0	C	22157311	A	C	22157311	3	2	224	1	0	0	0	0	1	0	0	0	17861	389	14	5	3321	5	ZNF208	19	22157311	Missense_Mutation	SNP	A	TCGA-CV-5430-01A-02D-1683-08	10933071	22157311	36971672	157	40989											
ZNF675	171392	broad.mit.edu	37	chr19	23836955	23836955	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggttaaaggctttgccacaTtcttcacatttgtatggttt	8	18	8	7	0	2	0	1	0	1	0	2	0	2	0	1	3	1	4	1	3	3	7			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:23836955T>C	ENST00000359788.4	-	4	948	c.780A>G	c.(778-780)gaA>gaG	p.E260E	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	260					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTTTGCCACATTCTTCACATT	0.353													10	31					0	0	0	0	C	23836955	T	C	23836955	2	2	224	1	0	0	0	0	0	0	0	1	18177	1490	52	5		5	ZNF675	19	23836955	Silent	SNP	T	TCGA-CV-5430-01A-02D-1683-08	1679644	23836955	35292028	158	40990											
FCGBP	8857	broad.mit.edu	37	chr19	40376315	40376315	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgactaggttcctacctCatagtagacaccattgtggt	11	12	9	9	0	1	3	1	1	0	2	2	3	2	3	3	2	1	2	3	2	4	6			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:40376315C>G	ENST00000221347.6	-	25	11996	c.11989G>C	c.(11989-11991)Gag>Cag	p.E3997Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3997	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTTCCTACCTCATAGTAGACA	0.542													6	28					0	0	0	0	G	40376315	C	G	40376315	3	3	224	1	0	0	0	0	1	0	0	0	5823	835	29	2	4276	2	FCGBP	19	40376315	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	16539360	40376315	18752668	159	40991											
ZNF155	7711	broad.mit.edu	37	chr19	44501449	44501450	+	Frame_Shift_Ins	INS	-	-	A																															ataagagactccactgccagINSaaaaaaccattcaaatgtga																										TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:44501449_44501450insA	ENST00000270014.2	+	5	1568_1569	c.1440_1441insA	c.(1438-1443)caaaaafs	p.QK480fs	RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000590615.1_Frame_Shift_Ins_p.QK480fs|ZNF155_ENST00000407951.2_Frame_Shift_Ins_p.QK491fs|RP11-15A1.7_ENST00000589021.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	480						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TCCACTGCCAGAAAAAACCATT	0.455													23	86	---	---	---	---					A	44501450	-	A	44501449	7	5	224	1	0	1	1	0	0	0	0	0	17831	933	33	0	1454	0	ZNF155	19	44501449	Frame_Shift_Ins	INS	-	TCGA-CV-5430-01A-02D-1683-08	4125134	44501449	14627534	160	40992											
BCAM	4059	broad.mit.edu	37	chr19	45316587	45316587	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcgcctggaggtgccCgtagagatgaacccaggtga	9	5	17	10	2	0	3	0	2	0	1	0	5	0	4	3	4	3	2	3	4	2	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:45316587C>G	ENST00000391955.1	+	5	629	c.585C>G	c.(583-585)ccC>ccG	p.P195P	BCAM_ENST00000270233.6_Silent_p.P195P			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	195	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TGGAGGTGCCCGTAGAGATGA	0.687													18	41					0	0	0	0	G	45316587	C	G	45316587	2	3	224	1	0	0	0	0	0	0	0	1	1348	639	23	3		3	BCAM	19	45316587	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08	815138	45316587	13812396	161	40993											
IZUMO1	284359	broad.mit.edu	37	chr19	49245052	49245052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagcactgacctgtgaCgtgaaaattgatgatcgtgg	11	9	11	10	2	0	5	0	5	0	0	1	5	0	5	2	1	1	1	2	1	2	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:49245052C>T	ENST00000332955.2	-	8	1295	c.748G>A	c.(748-750)Gtc>Atc	p.V250I		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	250	Ig-like C2-type.				fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TGACCTGTGACGTGAAAATTG	0.632													9	27					0	0	0	0	T	49245052	C	T	49245052	3	4	224	1	0	0	0	0	1	0	0	0	7986	536	19	1	316	1	IZUMO1	19	49245052	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	3928465	49245052	9883931	162	40994											
IL4I1	259307	broad.mit.edu	37	chr19	50399101	50399101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatcgctgagcaccttggCggccaccagcccggccacac	8	4	11	18	3	0	1	0	1	0	0	1	1	0	1	5	3	3	3	5	3	0	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:50399101C>T	ENST00000595948.1	-	5	909	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	IL4I1_ENST00000341114.3_Missense_Mutation_p.A97T|IL4I1_ENST00000391826.2_Missense_Mutation_p.A75T	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	75						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		AGCACCTTGGCGGCCACCAGC	0.637													12	116					0	0	0	0	T	50399101	C	T	50399101	3	4	224	1	0	0	0	0	1	0	0	0	7750	768	27	1	1504	1	IL4I1	19	50399101	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	1154049	50399101	8729882	163	40995											
ZNF616	90317	broad.mit.edu	37	chr19	52619847	52619847	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgctttaaaggctttgccAcattcattacatacatacgt	12	13	6	10	2	1	0	1	0	0	0	1	1	1	0	1	1	4	2	1	1	5	7			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:52619847A>G	ENST00000600228.1	-	4	831	c.570T>C	c.(568-570)tgT>tgC	p.C190C	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGGCTTTGCCACATTCATTAC	0.373													41	83					0	0	0	0	G	52619847	A	G	52619847	2	3	224	1	0	0	0	0	0	0	0	1	18136	157	6	5		5	ZNF616	19	52619847	Silent	SNP	A	TCGA-CV-5430-01A-02D-1683-08	2220746	52619847	6509136	164	40996											
TMC2	117532	broad.mit.edu	37	chr20	2621930	2621930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcggaccagattctggccAcgccccatctcagactcatc	10	8	7	16	2	3	2	2	0	2	2	6	3	3	3	4	2	0	0	4	2	1	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr20:2621930A>G	ENST00000358864.1	+	20	2669	c.2654A>G	c.(2653-2655)cAc>cGc	p.H885R		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	885						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GATTCTGGCCACGCCCCATCT	0.617													3	47					0	0	0	0	G	2621930	A	G	2621930	3	3	224	1	0	0	0	0	1	0	0	0	16079	159	6	5	2732	5	TMC2	20	2621930	Missense_Mutation	SNP	A	TCGA-CV-5430-01A-02D-1683-08		2621930	60403590	165	40997											
ESF1	51575	broad.mit.edu	37	chr20	13698017	13698017	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggtgtctatggttacctCaaagtcatcctctattaatt	9	16	6	10	0	4	0	2	0	2	0	5	0	5	0	3	2	1	1	3	2	5	5			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr20:13698017C>G	ENST00000202816.1	-	13	2367	c.2260G>C	c.(2260-2262)Gag>Cag	p.E754Q		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	754	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						ATGGTTACCTCAAAGTCATCC	0.378													20	965					0	0	0	0	G	13698017	C	G	13698017	3	3	224	1	0	0	0	0	1	0	0	0	5289	835	29	2	303	2	ESF1	20	13698017	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	11076087	13698017	49327503	166	40998											
ESF1	51575	broad.mit.edu	37	chr20	13753183	13753183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctttttctggggcatcttCaggaatacttaatagctcta	9	16	8	8	0	5	0	1	0	4	0	5	1	5	1	0	3	2	2	0	3	5	7			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr20:13753183C>T	ENST00000202816.1	-	5	1335	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GGGGCATCTTCAGGAATACTT	0.343													17	904					0	0	0	0	T	13753183	C	T	13753183	3	4	224	1	0	0	0	0	1	0	0	0	5289	835	29	2	1367	2	ESF1	20	13753183	Missense_Mutation	SNP	C	TCGA-CV-5430-01A-02D-1683-08	55166	13753183	49272337	167	40999											
ENTPD6	955	broad.mit.edu	37	chr20	25199204	25199204	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctacctcgggctcgggctGatgtcggcacgcctggcgat	5	8	15	13	5	0	1	0	1	0	0	3	2	0	1	2	4	2	4	2	4	1	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr20:25199204G>A	ENST00000360031.2	+	10	1076	c.894G>A	c.(892-894)ctG>ctA	p.L298L	ENTPD6_ENST00000376652.4_Silent_p.L299L|ENTPD6_ENST00000354989.5_Silent_p.L282L|ENTPD6_ENST00000433259.2_Silent_p.L299L	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	299						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GGCTCGGGCTGATGTCGGCAC	0.657													6	9					0	0	0	0	A	25199204	G	A	25199204	2	1	224	1	0	0	0	0	0	0	0	1	5181	1277	45	2		2	ENTPD6	20	25199204	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08	11446021	25199204	37826316	168	41000											
CDH4	1002	broad.mit.edu	37	chr20	60511842	60511842	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acggcacccccctatgactcCctgctggtcttcgactacga	7	9	8	17	3	1	1	0	1	1	0	3	3	2	1	4	2	2	2	4	2	2	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr20:60511842C>T	ENST00000360469.5	+	16	2680	c.2592C>T	c.(2590-2592)tcC>tcT	p.S864S	CDH4_ENST00000543233.1_Silent_p.S790S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	864					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCTATGACTCCCTGCTGGTCT	0.637													22	22					0	0	0	0	T	60511842	C	T	60511842	2	4	224	1	0	0	0	0	0	0	0	1	3141	610	22	4		4	CDH4	20	60511842	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08	35312638	60511842	2513678	169	41001											
DONSON	29980	broad.mit.edu	37	chr21	34950680	34950680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatgatttcccaagtaacGgtatttgactaagttgctcc	12	13	8	8	1	0	3	0	2	0	1	2	3	2	3	2	1	2	4	2	1	5	6			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr21:34950680G>C	ENST00000453626.1	-	10	1493	c.1489C>G	c.(1489-1491)Cgt>Ggt	p.R497G	DONSON_ENST00000303113.6_Missense_Mutation_p.P531R|DONSON_ENST00000303071.5_Missense_Mutation_p.P545R|DONSON_ENST00000432378.1_Missense_Mutation_p.P474R			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	0					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CCCAAGTAACGGTATTTGACT	0.403													9	71					0	0	0	0	C	34950680	G	C	34950680	3	2	224	1	0	0	0	0	1	0	0	0	4742	1116	39	3	70	3	DONSON	21	34950680	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08		34950680	13179215	170	41002											
EWSR1	2130	broad.mit.edu	37	chr22	29695245	29695245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttgtggaaaccagaacttCgcctggagaacagagtgcaa	13	7	13	8	1	0	3	0	0	0	3	1	5	0	4	2	3	4	2	2	3	4	2	rs138837921		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr22:29695245C>T	ENST00000397938.2	+	15	1921	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	EWSR1_ENST00000331029.7_Silent_p.F496F|EWSR1_ENST00000332050.6_Silent_p.F461F|EWSR1_ENST00000406548.1_Silent_p.F533F|EWSR1_ENST00000332035.6_Silent_p.F478F|EWSR1_ENST00000414183.2_Silent_p.F539F	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCAGAACTTCGCCTGGAGAA	0.512			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"								27	102					0	0	0	0	T	29695245	C	T	29695245	2	4	224	1	0	0	0	0	0	0	0	1	5333	883	31	1		1	EWSR1	22	29695245	Silent	SNP	C	TCGA-CV-5430-01A-02D-1683-08		29695245	21609321	171	41003											
TBC1D10A	83874	broad.mit.edu	37	chr22	30722697	30722697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgagcccacgatgaagccGaacttgtcgatgcggcgctc	8	7	13	13	6	0	1	0	1	0	0	2	5	0	1	2	1	5	1	2	1	2	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr22:30722697G>A	ENST00000215790.7	-	1	338	c.174C>T	c.(172-174)ttC>ttT	p.F58F	TBC1D10A_ENST00000403477.3_Silent_p.F58F|TBC1D10A_ENST00000490449.1_5'UTR	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	58						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGATGAAGCCGAACTTGTCGA	0.726													10	24					0	0	0	0	A	30722697	G	A	30722697	2	1	224	1	0	0	0	0	0	0	0	1	15689	1049	37	1		1	TBC1D10A	22	30722697	Silent	SNP	G	TCGA-CV-5430-01A-02D-1683-08	1027452	30722697	20581869	172	41004											
PHKA2	5256	broad.mit.edu	37	chrX	18912411	18912411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatctccgtgtccgagaGcagcgtcagcaccatgatgg	8	8	13	12	3	3	2	2	1	1	1	5	3	4	2	3	2	3	2	3	2	0	0			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:18912411G>A	ENST00000379942.4	-	32	4113	c.3448C>T	c.(3448-3450)Ctc>Ttc	p.L1150F	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1150					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GTGTCCGAGAGCAGCGTCAGC	0.612													28	12					0	0	0	0	A	18912411	G	A	18912411	3	1	224	1	0	0	0	0	1	0	0	0	11916	971	34	4	267	4	PHKA2	23	18912411	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08		18912411	136358149	173	41005											
RBM10	8241	broad.mit.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-																															gactatcggaccgagcaaggGgaggaggaggaggaggagga																										TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggg>gg	p.GE112del	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	112					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66													10	127	---	---	---	---					-	47030563	GGA	-	47030561	7	5	224	1	0	1	0	1	0	0	0	0	13193	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-CV-5430-01A-02D-1683-08	28118150	47030561	108239999	174	41006											
TAF7L	54457	broad.mit.edu	37	chrX	100547854	100547854	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccgtttgagtgtcctcGtcggcaggaatctgggtgcc	5	11	14	11	3	1	1	0	1	1	0	5	2	3	2	3	3	1	3	3	3	1	1			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:100547854G>A	ENST00000372905.2	-	0	205				TAF7L_ENST00000372907.3_Silent_p.D60D			Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa						cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GAGTGTCCTCGTCGGCAGGAA	0.562													7	175					0	0	0	0	A	100547854	G	A	100547854	1	1	224	1	0	0	0	0	0	0	0	0	15624	1136	40	1		1	TAF7L	23	100547854	Translation_Start_Site	SNP	G	TCGA-CV-5430-01A-02D-1683-08	53517293	100547854	54722706	175	41007											
IGSF1	3547	broad.mit.edu	37	chrX	130409627	130409627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggcttctccttctttGtgcagaatgtatcctactcc	7	15	8	11	0	2	1	0	0	2	1	5	2	4	1	3	1	2	3	3	1	4	5			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:130409627G>T	ENST00000370904.1	-	22	3892	c.2982C>A	c.(2980-2982)caC>caA	p.H994Q	IGSF1_ENST00000370903.3_Missense_Mutation_p.H1008Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.H1003Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.H994Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1003	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.H1003Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTCCTTCTTTGTGCAGAATGT	0.527													11	71					2.35188e-11	2.67203e-11	1	0	T	130409627	G	T	130409627	3	4	224	1	0	0	0	0	1	0	0	0	7649	1368	48	4	1021	4	IGSF1	23	130409627	Missense_Mutation	SNP	G	TCGA-CV-5430-01A-02D-1683-08	29861773	130409627	24860933	176	41008											
MAGEA11	4110	broad.mit.edu	37	chrX	148798058	148798058	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttatgatggcatacagtgTaatgagcagagcatgcccaa	13	10	10	8	0	1	3	0	2	1	1	1	3	1	3	1	1	4	4	1	1	4	3			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:148798058T>C	ENST00000355220.5	+	5	1014	c.912T>C	c.(910-912)tgT>tgC	p.C304C	MAGEA11_ENST00000333104.4_Silent_p.C275C	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	304	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCATACAGTGTAATGAGCAGA	0.502													23	101					0	0	0	0	C	148798058	T	C	148798058	2	2	224	1	0	0	0	0	0	0	0	1	9230	1644	57	5		5	MAGEA11	23	148798058	Silent	SNP	T	TCGA-CV-5430-01A-02D-1683-08	18388431	148798058	6472502	177	41009											
PAX7	5081	broad.mit.edu	37	chr1	19029673	19029673	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagcggctgcagccgcCgacaccagctctgcctacgg	6	5	13	17	4	1	0	0	0	1	0	1	1	1	0	4	2	7	5	4	2	1	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:19029673C>T	uc001bay.2	+	7	1636	c.1038C>T	c.(1036-1038)GCC>GCT	p.A346A	PAX7_uc001baz.2_Silent_p.A344A|PAX7_uc010oct.1_Silent_p.A346A	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	346	Poly-Ala.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTGCAGCCGCCGACACCAGCT	0.667			T	FOXO1A	alveolar rhabdomyosarcoma								4	16					0	0	0	0	T	19029673	C	T	19029673	2	4	225	1	0	0	0	0	0	0	0	1	11555	639	23	1		1	PAX7	1	19029673	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08		19029673	230220948	1	41010											
TMEM39B	55116	broad.mit.edu	37	chr1	32542920	32542920	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgttcctctgctatccGtgagtacccctcacttcacc	5	13	5	18	1	3	1	2	1	1	0	6	1	6	1	6	0	2	3	6	0	2	4			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:32542920G>A	uc010ogv.1	+	5	736	c.590_splice	c.e5+1	p.P197_splice	TMEM39B_uc010ogt.1_Intron|TMEM39B_uc010ogu.1_Splice_Site_p.P70_splice|TMEM39B_uc001bue.3_Splice_Site_p.P197_splice|TMEM39B_uc001buf.3_Intron|TMEM39B_uc010ogw.1_Intron	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B							integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCTGCTATCCGTGAGTACCCC	0.597													19	75					0	0	0	0	A	32542920	G	A	32542920	5	1	225	1	0	0	0	0	0	0	1	0	16256	1159	40	1	609	1	TMEM39B	1	32542920	Splice_Site	SNP	G	TCGA-CV-5431-01A-01D-1512-08	13513247	32542920	216707701	2	41011											
RIMKLA	284716	broad.mit.edu	37	chr1	42880192	42880192	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgctgacagaacaaggCaagcagttggctattcaggt	11	9	12	9	1	1	2	1	1	0	1	2	2	2	2	1	3	2	5	1	3	4	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:42880192C>T	uc001chi.2	+	5	861	c.723C>T	c.(721-723)GGC>GGT	p.G241G		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	241	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CAGAACAAGGCAAGCAGTTGG	0.502													60	351					0	0	0	0	T	42880192	C	T	42880192	2	4	225	1	0	0	0	0	0	0	0	1	13450	697	25	4		4	RIMKLA	1	42880192	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08	10337272	42880192	206370429	3	41012											
ELOVL1	64834	broad.mit.edu	37	chr1	43830980	43830980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgagagaacgaagtacacGtaggtcaggagaatggaggt	15	6	16	4	2	1	3	1	1	0	2	1	7	1	4	0	4	2	2	0	4	5	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:43830980G>A	uc001ciz.2	-	4	357	c.114C>T	c.(112-114)TAC>TAT	p.Y38Y	ELOVL1_uc001cja.2_Silent_p.Y38Y|ELOVL1_uc001cjb.2_Silent_p.Y38Y|ELOVL1_uc001cjc.2_RNA|ELOVL1_uc010okh.1_Silent_p.Y38Y	NM_022821	NP_073732	Q9BW60	ELOV1_HUMAN	elongation of very long chain fatty acids-like	38	Helical; (Potential).				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGAAGTACACGTAGGTCAGGA	0.527													14	40					0	0	0	0	A	43830980	G	A	43830980	2	1	225	1	0	0	0	0	0	0	0	1	5111	1140	40	1		1	ELOVL1	1	43830980	Silent	SNP	G	TCGA-CV-5431-01A-01D-1512-08	950788	43830980	205419641	4	41013											
LRRC8D	55144	broad.mit.edu	37	chr1	90400812	90400812	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtggcagtatttagtttaCagaaactcagatgcttagat	13	13	9	6	0	1	3	1	0	0	3	1	3	1	3	0	1	3	4	0	1	5	6			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:90400812C>T	uc001dnm.2	+	3	2610	c.2185C>T	c.(2185-2187)CAG>TAG	p.Q729*	LRRC8D_uc001dnn.2_Nonsense_Mutation_p.Q729*	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	729						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		ATTTAGTTTACAGAAACTCAG	0.378													22	140					0	0	0	0	T	90400812	C	T	90400812	4	4	225	1	0	0	0	0	0	1	0	0	9088	479	17	4	2187	4	LRRC8D	1	90400812	Nonsense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	46569832	90400812	158849809	5	41014											
S100A7A	338324	broad.mit.edu	37	chr1	153390659	153390659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagccaagcctgctgaCgatgatgaaggagaacttcc	13	7	12	9	1	0	5	0	4	0	2	1	8	1	5	3	1	4	1	3	1	4	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:153390659C>T	uc001fbt.1	+	2	158	c.101C>T	c.(100-102)ACG>ATG	p.T34M		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7-like 1	34	EF-hand 1.					cytoplasm	calcium ion binding			skin(1)	1	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCTGCTGACGATGATGAAG	0.483													81	190					0	0	0	0	T	153390659	C	T	153390659	3	4	225	1	0	0	0	0	1	0	0	0	13869	536	19	1	103	1	S100A7A	1	153390659	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	62989847	153390659	95859962	6	41015											
FCRL5	83416	broad.mit.edu	37	chr1	157514262	157514262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctagagagagctgggtctCacaggtcagggtcactgggt	8	9	15	9	0	4	2	3	0	2	2	5	3	4	2	0	4	1	1	0	4	1	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:157514262C>T	uc001fqu.2	-	5	792	c.634G>A	c.(634-636)GAG>AAG	p.E212K	FCRL5_uc009wsm.2_Missense_Mutation_p.E212K|FCRL5_uc010phv.1_Missense_Mutation_p.E212K|FCRL5_uc010phw.1_Missense_Mutation_p.E127K|FCRL5_uc001fqv.1_Missense_Mutation_p.E212K|FCRL5_uc010phx.1_5'UTR	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	212	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGCTGGGTCTCACAGGTCAGG	0.562													57	238					0	0	0	0	T	157514262	C	T	157514262	3	4	225	1	0	0	0	0	1	0	0	0	5843	835	29	2	2351	2	FCRL5	1	157514262	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	4123603	157514262	91736359	7	41016											
CD1A	909	broad.mit.edu	37	chr1	158226598	158226598	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcccgaggcctggctgtcCcatggccccagtcctggccc	5	6	12	18	1	0	0	0	0	0	0	2	1	2	0	7	4	1	1	7	4	1	0			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:158226598C>G	uc001frt.2	+	4	1160	c.627C>G	c.(625-627)TCC>TCG	p.S209S		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	209	Extracellular (Potential).|Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CCTGGCTGTCCCATGGCCCCA	0.522													37	178					0	0	0	0	G	158226598	C	G	158226598	2	3	225	1	0	0	0	0	0	0	0	1	3003	610	22	4		4	CD1A	1	158226598	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08	712336	158226598	91024023	8	41017											
SPTA1	6708	broad.mit.edu	37	chr1	158615002	158615002	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aactccaggcactggtctagGatcttcttgcgtttttccca	7	14	8	12	1	3	0	0	0	3	0	5	1	5	1	2	3	2	2	2	3	2	5			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:158615002G>A	uc001fst.1	-	29	4369	c.4170C>T	c.(4168-4170)ATC>ATT	p.I1390I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1390	Spectrin 13.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					ACTGGTCTAGGATCTTCTTGC	0.438													46	300					0	0	0	0	A	158615002	G	A	158615002	2	1	225	1	0	0	0	0	0	0	0	1	15206	1164	41	2		2	SPTA1	1	158615002	Silent	SNP	G	TCGA-CV-5431-01A-01D-1512-08	388404	158615002	90635619	9	41018											
DDR2	4921	broad.mit.edu	37	chr1	162748507	162748507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actggagagttcttccgagaCcaagggaggcaggtaagaac	13	6	14	8	1	1	3	0	0	1	3	2	6	2	4	2	4	1	3	2	4	3	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:162748507C>T	uc001gcf.2	+	18	2886	c.2421C>T	c.(2419-2421)GAC>GAT	p.D807D	DDR2_uc001gcg.2_Silent_p.D807D	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	807	Cytoplasmic (Potential).|Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TCTTCCGAGACCAAGGGAGGC	0.498													23	135					0	0	0	0	T	162748507	C	T	162748507	2	4	225	1	0	0	0	0	0	0	0	1	4369	506	18	4		4	DDR2	1	162748507	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08	4133505	162748507	86502114	10	41019											
ILDR2	387597	broad.mit.edu	37	chr1	166905901	166905901	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctgtgagggcagcaCtggcaccagcagatccccac	10	4	12	15	0	0	2	0	1	0	1	1	2	1	2	3	2	4	6	3	2	0	0			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:166905901C>T	uc001gdx.1	-	5	686	c.630G>A	c.(628-630)CAG>CAA	p.Q210Q		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	210	Cys-rich.|Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						GAGGGCAGCACTGGCACCAGC	0.592													9	68					0	0	0	0	T	166905901	C	T	166905901	2	4	225	1	0	0	0	0	0	0	0	1	7763	564	20	4		4	ILDR2	1	166905901	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08	4157394	166905901	82344720	11	41020											
FAIM3	9214	broad.mit.edu	37	chr1	207087230	207087230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactaggaacagattcttgcGtgggtattgcttcagagtaa	11	12	11	7	1	2	2	1	0	1	2	2	3	2	3	0	2	3	3	0	2	4	7	rs138817695	byFrequency	TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:207087230G>A	uc001hey.2	-	2	426	c.247C>T	c.(247-249)CGC>TGC	p.R83C	FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_Missense_Mutation_p.T26M|FAIM3_uc010psb.1_Missense_Mutation_p.R83C	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3 isoform a	83	Ig-like.|Extracellular (Potential).				anti-apoptosis|cellular defense response	integral to membrane				central_nervous_system(1)	1	Breast(84;0.201)					AGATTCTTGCGTGGGTATTGC	0.537													27	220					0	0	0	0	A	207087230	G	A	207087230	3	1	225	1	0	0	0	0	1	0	0	0	5418	1145	40	1	953	1	FAIM3	1	207087230	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	40181329	207087230	42163391	12	41021											
ESRRG	2104	broad.mit.edu	37	chr1	216850620	216850620	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acaggcccactacctcccagGataggagcagaagggtagag	13	4	13	11	0	0	2	0	0	0	2	1	4	1	4	3	4	2	2	3	4	4	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:216850620G>C	uc001hkw.1	-	2	436	c.270C>G	c.(268-270)ATC>ATG	p.I90M	ESRRG_uc001hky.1_Missense_Mutation_p.I67M|ESRRG_uc009xdp.1_Missense_Mutation_p.I67M|ESRRG_uc001hkz.1_Missense_Mutation_p.I67M|ESRRG_uc010puc.1_Missense_Mutation_p.I67M|ESRRG_uc001hla.1_Missense_Mutation_p.I67M|ESRRG_uc001hlb.1_Missense_Mutation_p.I67M|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.I67M|ESRRG_uc001hld.1_Missense_Mutation_p.I67M|ESRRG_uc001hkx.1_Missense_Mutation_p.I95M|ESRRG_uc009xdo.1_Missense_Mutation_p.I67M|ESRRG_uc001hle.1_Missense_Mutation_p.I67M	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	90					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TACCTCCCAGGATAGGAGCAG	0.537													28	198					0	0	0	0	C	216850620	G	C	216850620	3	2	225	1	0	0	0	0	1	0	0	0	5300	1164	41	2	1130	2	ESRRG	1	216850620	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	9763390	216850620	32400001	13	41022											
OR11L1	391189	broad.mit.edu	37	chr1	248004602	248004602	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggcaattgacaggatgaaGatggtcacctcggtgatata	13	9	12	7	2	1	4	1	3	0	1	2	5	1	5	1	4	0	1	1	4	4	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:248004602G>A	uc001idn.1	-	1	597	c.597C>T	c.(595-597)ATC>ATT	p.I199I		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACAGGATGAAGATGGTCACCT	0.483													29	180					0	0	0	0	A	248004602	G	A	248004602	2	1	225	1	0	0	0	0	0	0	0	1	11001	932	33	2		2	OR11L1	1	248004602	Silent	SNP	G	TCGA-CV-5431-01A-01D-1512-08	31153982	248004602	1246019	14	41023											
NTSR2	23620	broad.mit.edu	37	chr2	11802234	11802234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcactcagcagctccaggcGgctgggggtggagctgcccg	5	6	16	14	2	2	0	2	0	0	0	3	1	3	1	2	5	4	4	2	5	0	0	rs148798482	byFrequency	TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:11802234G>A	uc002rbq.3	-	2	831	c.757C>T	c.(757-759)CGC>TGC	p.R253C		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	253	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AGCTCCAGGCGGCTGGGGGTG	0.597													51	153					0	0	0	0	A	11802234	G	A	11802234	3	1	225	1	0	0	0	0	1	0	0	0	10782	1116	39	1	487	1	NTSR2	2	11802234	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08		11802234	231397139	15	41024											
ADCY3	109	broad.mit.edu	37	chr2	25059788	25059788	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagccctgcacatacctGggcatcctgctcctcgggct	5	9	10	17	1	0	1	0	1	0	0	3	1	2	1	5	2	4	4	5	2	1	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:25059788G>A	uc002rfs.3	-	8	1859	c.1660C>T	c.(1660-1662)CAG>TAG	p.Q554*	ADCY3_uc002rfr.3_Nonsense_Mutation_p.Q187*|ADCY3_uc010ykm.1_Nonsense_Mutation_p.Q554*	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	554	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCACATACCTGGGCATCCTGC	0.522													9	78					0	0	0	0	A	25059788	G	A	25059788	4	1	225	1	0	0	0	0	0	1	0	0	295	1357	47	4	1830	4	ADCY3	2	25059788	Nonsense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	13257554	25059788	218139585	16	41025											
DNAJC27	51277	broad.mit.edu	37	chr2	25170613	25170613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgatacgctttattgacttCatccctgggaaaagaagcca	12	10	8	11	2	1	2	1	1	0	1	2	4	2	3	3	1	2	1	3	1	5	5			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:25170613C>T	uc002rft.1	-	7	745	c.694G>A	c.(694-696)GAA>AAA	p.E232K	DNAJC27_uc010ykn.1_Missense_Mutation_p.E161K|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Silent_p.*178*	NM_016544	NP_057628	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	232	J.				protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			skin(1)	1						TTATTGACTTCATCCCTGGGA	0.453													21	100					0	0	0	0	T	25170613	C	T	25170613	3	4	225	1	0	0	0	0	1	0	0	0	4681	835	29	2	131	2	DNAJC27	2	25170613	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	110825	25170613	218028760	17	41026											
TTC7A	57217	broad.mit.edu	37	chr2	47278895	47278895	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctctgcaggctcccggcgGgcttcgtccatcgccgcctc	2	9	12	18	5	1	0	0	0	1	0	6	0	3	0	4	3	2	4	4	3	0	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:47278895G>A	uc002rvo.2	+	18	2396	c.2028G>A	c.(2026-2028)CGG>CGA	p.R676R	TTC7A_uc002rvm.2_Silent_p.R642R|TTC7A_uc010fbb.2_Silent_p.R700R|TTC7A_uc010fbc.2_Silent_p.R322R|TTC7A_uc002rvp.2_Silent_p.R557R|TTC7A_uc002rvq.2_Silent_p.R416R|TTC7A_uc002rvr.2_Silent_p.R125R	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	676							binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCTCCCGGCGGGCTTCGTCCA	0.667													17	105					0	0	0	0	A	47278895	G	A	47278895	2	1	225	1	0	0	0	0	0	0	0	1	16808	1219	43	4		4	TTC7A	2	47278895	Silent	SNP	G	TCGA-CV-5431-01A-01D-1512-08	22108282	47278895	195920478	18	41027											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48809175	48809175	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttgccgaagcgagatgAatcctattatgagaaggact	13	10	12	6	2	0	4	0	3	0	2	1	8	1	5	2	1	2	1	2	1	5	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:48809175A>T	uc010yol.1	+	1	1450	c.1403A>T	c.(1402-1404)GAA>GTA	p.E468V	STON1_uc002rwo.3_Missense_Mutation_p.E468V|STON1_uc010fbm.2_Missense_Mutation_p.E468V|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.E468V|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.E468V	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	468					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCGAGATGAATCCTATTAT	0.373													32	197					0	0	0	0	T	48809175	A	T	48809175	3	4	225	1	0	0	0	0	1	0	0	0	15407	246	9	5	1405	5	STON1-GTF2A1L	2	48809175	Missense_Mutation	SNP	A	TCGA-CV-5431-01A-01D-1512-08	1530280	48809175	194390198	19	41028											
MYO7B	4648	broad.mit.edu	37	chr2	128387389	128387389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacggtcactaagccctcGgcacagctgctggtaactgg	8	7	11	15	2	1	0	1	0	0	0	2	0	1	0	2	4	4	4	2	4	2	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:128387389G>A	uc002top.2	+	34	4769	c.4716G>A	c.(4714-4716)TCG>TCA	p.S1572S	MYO7B_uc002tor.1_Silent_p.S425S	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1572						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTAAGCCCTCGGCACAGCTGC	0.642													9	43					0	0	0	0	A	128387389	G	A	128387389	2	1	225	1	0	0	0	0	0	0	0	1	10153	1103	39	1		1	MYO7B	2	128387389	Silent	SNP	G	TCGA-CV-5431-01A-01D-1512-08	79578214	128387389	114811984	20	41029											
XIRP2	129446	broad.mit.edu	37	chr2	168105922	168105922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaatccaaatcagcttgcGaaattaaacaaagtcaccaa	18	8	5	10	1	2	0	2	0	0	0	3	1	3	0	2	0	4	2	2	0	7	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:168105922G>A	uc002udx.2	+	8	8038	c.8020G>A	c.(8020-8022)GAA>AAA	p.E2674K	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2499K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2452K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.E20K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2499					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						ATCAGCTTGCGAAATTAAACA	0.398													38	121					0	0	0	0	A	168105922	G	A	168105922	3	1	225	1	0	0	0	0	1	0	0	0	17526	1059	37	1	8050	1	XIRP2	2	168105922	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	39718533	168105922	75093451	21	41030											
TTN	7273	broad.mit.edu	37	chr2	179435824	179435824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatgattgcctctggcCgtcctggtggatcacatggg	7	11	13	10	1	2	2	1	2	1	0	3	3	3	3	3	4	1	0	3	4	1	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:179435824C>T	uc010zfg.1	-	275	67555	c.67331G>A	c.(67330-67332)CGG>CAG	p.R22444Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16139Q|TTN_uc010zfi.1_Missense_Mutation_p.R16072Q|TTN_uc010zfj.1_Missense_Mutation_p.R15947Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23371							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCTCTGGCCGTCCTGGTGG	0.463													41	256					0	0	0	0	T	179435824	C	T	179435824	3	4	225	1	0	0	0	0	1	0	0	0	16831	652	23	1	33092	1	TTN	2	179435824	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	11329902	179435824	63763549	22	41031											
CXCR2	3579	broad.mit.edu	37	chr2	219000234	219000234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacggattcaccctgcgtaCgctgtttaaggcccacatgg	8	10	10	13	3	1	0	1	0	0	0	1	1	1	1	2	3	3	3	2	3	3	5			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:219000234C>T	uc002vgz.1	+	4	935	c.710C>T	c.(709-711)ACG>ATG	p.T237M	CXCR2_uc002vha.1_Missense_Mutation_p.T237M|CXCR2_uc002vhb.1_Missense_Mutation_p.T237M	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	237	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2						ACCCTGCGTACGCTGTTTAAG	0.577													54	312					0	0	0	0	T	219000234	C	T	219000234	3	4	225	1	0	0	0	0	1	0	0	0	4123	536	19	1	712	1	CXCR2	2	219000234	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	39564410	219000234	24199139	23	41032											
ANKZF1	55139	broad.mit.edu	37	chr2	220098637	220098637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caagagctacagcgtgtgctCcataagctgaccactttgca	11	9	9	12	1	0	2	0	1	0	1	1	2	1	2	2	0	6	4	2	0	3	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:220098637C>T	uc002vkg.2	+	8	1194	c.1020C>T	c.(1018-1020)CTC>CTT	p.L340L	ANKZF1_uc010zkv.1_Silent_p.L284L|ANKZF1_uc010zkw.1_Silent_p.L130L|ANKZF1_uc002vkh.2_Silent_p.L130L|ANKZF1_uc002vki.2_Silent_p.L340L|ANKZF1_uc002vkj.1_Silent_p.L328L	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	340						intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCGTGTGCTCCATAAGCTGA	0.557													12	61					0	0	0	0	T	220098637	C	T	220098637	2	4	225	1	0	0	0	0	0	0	0	1	692	842	30	2		2	ANKZF1	2	220098637	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08	1098403	220098637	23100736	24	41033											
CNTN4	152330	broad.mit.edu	37	chr3	2924854	2924854	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgggtgaatatgagcccaaAatagaagtgcagttcccaga	15	8	11	7	0	0	4	0	2	0	2	1	4	1	4	2	1	2	2	2	1	6	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:2924854A>T	uc003bpc.2	+	8	899	c.678A>T	c.(676-678)AAA>AAT	p.K226N	CNTN4_uc003bpb.1_Intron|CNTN4_uc003bpd.1_Missense_Mutation_p.K226N	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	226	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATGAGCCCAAAATAGAAGTGC	0.383													9	40					0	0	0	0	T	2924854	A	T	2924854	3	4	225	1	0	0	0	0	1	0	0	0	3673	11	1	5	700	5	CNTN4	3	2924854	Missense_Mutation	SNP	A	TCGA-CV-5431-01A-01D-1512-08		2924854	195097576	25	41034											
TTC21A	199223	broad.mit.edu	37	chr3	39170768	39170768	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatctacctgcagacccTcagagacaggcgcctctaca	12	6	7	16	1	3	2	1	0	2	2	3	3	3	2	3	1	4	1	3	1	3	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:39170768T>G	uc003cjc.2	+	15	2300	c.2123T>G	c.(2122-2124)CTC>CGC	p.L708R	TTC21A_uc003cje.2_Missense_Mutation_p.L709R|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.L660R	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	708							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTGCAGACCCTCAGAGACAGG	0.517													24	157					0	0	0	0	G	39170768	T	G	39170768	3	3	225	1	0	0	0	0	1	0	0	0	16783	1551	54	5	2184	5	TTC21A	3	39170768	Missense_Mutation	SNP	T	TCGA-CV-5431-01A-01D-1512-08	36245914	39170768	158851662	26	41035											
BSN	8927	broad.mit.edu	37	chr3	49691010	49691010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagttattcccgatgtcCgtgtcactcagcattttgca	7	13	9	12	3	2	0	2	0	0	0	4	2	4	0	3	0	2	3	3	0	1	4	rs142305207		TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:49691010C>T	uc003cxe.3	+	5	4135	c.4021C>T	c.(4021-4023)CGT>TGT	p.R1341C		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1341					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCCCGATGTCCGTGTCACTCA	0.612													50	90					0	0	0	0	T	49691010	C	T	49691010	3	4	225	1	0	0	0	0	1	0	0	0	1538	652	23	1	4039	1	BSN	3	49691010	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	10520242	49691010	148331420	27	41036											
ITIH3	3699	broad.mit.edu	37	chr3	52841096	52841096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgagcactttcagctggctgGacacagtcacagtcacgcag	10	7	11	13	2	3	0	3	0	0	0	3	2	3	1	0	2	2	4	0	2	0	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:52841096G>C	uc003dfv.2	+	19	2272	c.2236G>C	c.(2236-2238)GAC>CAC	p.D746H	ITIH3_uc011bek.1_Missense_Mutation_p.D554H	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	746					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CAGCTGGCTGGACACAGTCAC	0.418													3	12					0	0	0	0	C	52841096	G	C	52841096	3	2	225	1	0	0	0	0	1	0	0	0	7958	1174	41	2	2310	2	ITIH3	3	52841096	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	3150086	52841096	145181334	28	41037											
CEP97	79598	broad.mit.edu	37	chr3	101476041	101476042	+	Splice_Site	INS	-	-	T																															cagatatcccaggaaagtggINStaagaaatgaatttatctct																										TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:101476041_101476042insT	uc003dvk.1	+	8	1054	c.1027_splice	c.e8+1	p.E343_splice	CEP97_uc010hpm.1_Splice_Site_p.E309_splice|CEP97_uc011bhf.1_Splice_Site_p.E343_splice|CEP97_uc003dvl.1_Splice_Site_p.E39_splice|CEP97_uc003dvm.1_Splice_Site_p.E181_splice	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa							centrosome|nucleus	protein binding			ovary(2)	2						CAGGAAAGTGGTAAGAAATGAA	0.371													33	200	---	---	---	---					T	101476042	-	T	101476041	8	5	225	1	0	1	1	0	0	0	1	0	3292	1275	44	0	1058	0	CEP97	3	101476041	Splice_Site	INS	-	TCGA-CV-5431-01A-01D-1512-08	48634945	101476041	96546389	29	41038											
CD200R1L	344807	broad.mit.edu	37	chr3	112548233	112548233	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcatgaactacttgaagcTagaaaacatttagagaagaa	19	9	8	5	0	0	5	0	2	0	3	0	6	0	5	0	0	5	2	0	0	9	5			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:112548233T>C	uc003dzi.1	-	2	273	c.47_splice	c.e2-1	p.A16_splice	CD200R1L_uc011bhw.1_Splice_Site|CD200R1L_uc010hqf.1_Splice_Site	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN	CD200 cell surface glycoprotein receptor 2							integral to membrane	receptor activity			ovary(1)	1						TACTTGAAGCTAGAAAACATT	0.373													31	75					0	0	0	0	C	112548233	T	C	112548233	5	2	225	1	0	0	0	0	0	0	1	0	3011	1536	53	5	790	5	CD200R1L	3	112548233	Splice_Site	SNP	T	TCGA-CV-5431-01A-01D-1512-08	11072192	112548233	85474197	30	41039											
KALRN	8997	broad.mit.edu	37	chr3	124418822	124418822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcagagtcagtgccagtaaCccctggggaatcagccttcc	9	9	10	13	0	3	1	3	0	0	1	4	2	4	2	5	2	3	1	5	2	2	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:124418822C>A	uc003ehg.2	+	56	8065	c.7938C>A	c.(7936-7938)AAC>AAA	p.N2646K	KALRN_uc003ehk.2_Missense_Mutation_p.N949K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2645	Fibronectin type-III.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GTGCCAGTAACCCCTGGGGAA	0.582													73	238					1.52e-38	1.81e-38	1	0	A	124418822	C	A	124418822	3	1	225	1	0	0	0	0	1	0	0	0	8028	506	18	4	8316	4	KALRN	3	124418822	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	11870589	124418822	73603608	31	41040											
EIF2A	83939	broad.mit.edu	37	chr3	150289839	150289839	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgccaaagcgacaattttCaacttgaaatgtgatcctgt	12	12	7	10	1	1	2	1	2	0	0	2	3	2	2	3	0	3	0	3	0	4	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:150289839C>T	uc003eya.2	+	10	922	c.906C>T	c.(904-906)TTC>TTT	p.F302F	SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Silent_p.F175F|EIF2A_uc003eyc.2_Silent_p.F175F|EIF2A_uc011bnv.1_Silent_p.F277F|EIF2A_uc011bnw.1_Silent_p.F241F|EIF2A_uc003eyd.2_Silent_p.F77F|uc003eye.1_Intron	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A	302					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding				0		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGACAATTTTCAACTTGAAAT	0.378													12	68					0	0	0	0	T	150289839	C	T	150289839	2	4	225	1	0	0	0	0	0	0	0	1	5031	825	29	2		2	EIF2A	3	150289839	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08	25871017	150289839	47732591	32	41041											
DRD5	1816	broad.mit.edu	37	chr4	9783799	9783799	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccgcctgcctgctgacccTactcatcatctggaccctgc	6	9	7	19	1	3	1	2	1	1	0	3	2	3	2	5	1	4	1	5	1	1	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr4:9783799T>A	uc003gmb.3	+	1	542	c.146T>A	c.(145-147)CTA>CAA	p.L49Q		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	49	Helical; Name=1; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTGCTGACCCTACTCATCATC	0.677													7	23					0	0	0	0	A	9783799	T	A	9783799	3	1	225	1	0	0	0	0	1	0	0	0	4796	1522	53	5	148	5	DRD5	4	9783799	Missense_Mutation	SNP	T	TCGA-CV-5431-01A-01D-1512-08		9783799	181370477	33	41042											
MUC7	4589	broad.mit.edu	37	chr4	71346528	71346528	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctgcagttcagtgaaggtCgagaaagggatcatgaacta	13	10	12	6	1	3	3	2	2	1	1	4	5	3	4	0	2	2	2	0	2	4	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr4:71346528C>T	uc011cat.1	+	4	355	c.67C>T	c.(67-69)CGA>TGA	p.R23*	MUC7_uc011cau.1_Nonsense_Mutation_p.R23*|MUC7_uc003hfj.2_Nonsense_Mutation_p.R23*	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	23						extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			CAGTGAAGGTCGAGAAAGGGA	0.249													20	162					0	0	0	0	T	71346528	C	T	71346528	4	4	225	1	0	0	0	0	0	1	0	0	10051	876	31	1	73	1	MUC7	4	71346528	Nonsense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	61562729	71346528	119807748	34	41043											
BTF3	689	broad.mit.edu	37	chr5	72798376	72798376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagatgacaaaaaacttCagttctccttaaagaagtta	17	10	6	8	0	2	3	1	1	1	2	3	3	2	3	1	0	2	3	1	0	7	4			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr5:72798376C>G	uc003kcr.1	+	3	508	c.265C>G	c.(265-267)CAG>GAG	p.Q89E	BTF3_uc003kcq.1_Missense_Mutation_p.Q45E|BTF3_uc003kcs.1_RNA|BTF3_uc003kct.1_RNA	NM_001037637	NP_001032726	P20290	BTF3_HUMAN	basic transcription factor 3 isoform A	89	NAC-A/B.			Missing (in Ref. 2; AAA58398).	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding				0		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		CAAAAAACTTCAGTTCTCCTT	0.383													6	35					0	0	0	0	G	72798376	C	G	72798376	3	3	225	1	0	0	0	0	1	0	0	0	1560	827	29	2	275	2	BTF3	5	72798376	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08		72798376	108116884	35	41044											
FAM172A	83989	broad.mit.edu	37	chr5	93300198	93300198	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttcaaattacaatccttttCcaggagctcatatacatact	13	15	3	10	0	2	0	2	0	0	0	4	1	4	1	2	1	4	1	2	1	6	7			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr5:93300198C>G	uc010jbd.2	-	5	547	c.340G>C	c.(340-342)GAA>CAA	p.E114Q	FAM172A_uc011cuf.1_Missense_Mutation_p.E68Q|FAM172A_uc011cug.1_Missense_Mutation_p.E68Q|FAM172A_uc011cuh.1_Missense_Mutation_p.E31Q|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Missense_Mutation_p.E114Q	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN	hypothetical protein LOC83989 isoform 1	114						endoplasmic reticulum|extracellular region					0						CAATCCTTTTCCAGGAGCTCA	0.264													3	19					0	0	0	0	G	93300198	C	G	93300198	3	3	225	1	0	0	0	0	1	0	0	0	5533	864	30	2	938	2	FAM172A	5	93300198	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	20501822	93300198	87615062	36	41045											
KCNN2	3781	broad.mit.edu	37	chr5	113798815	113798815	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatatcaataacttttctCtccattggttatggtgacat	10	18	6	7	0	2	2	1	2	1	0	4	2	3	2	1	2	1	1	1	2	4	7			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr5:113798815C>G	uc003kqo.2	+	4	1528	c.1071C>G	c.(1069-1071)CTC>CTG	p.L357L	KCNN2_uc003kqp.2_Silent_p.L9L|KCNN2_uc010jcg.2_RNA|uc003kqq.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	357						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TAACTTTTCTCTCCATTGGTT	0.383													30	247					0	0	0	0	G	113798815	C	G	113798815	2	3	225	1	0	0	0	0	0	0	0	1	8132	900	32	2		2	KCNN2	5	113798815	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08	20498617	113798815	67116445	37	41046											
MICB	4277	broad.mit.edu	37	chr6	31477569	31477569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttctccagagcttgtgagCctgcaggtcctggatcaaca	8	11	10	12	0	3	2	1	1	2	1	5	3	4	3	3	2	4	2	3	2	1	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:31477569C>T	uc003ntn.3	+	6	1151	c.1035C>T	c.(1033-1035)AGC>AGT	p.S345S	MICB_uc011dnm.1_Silent_p.S313S|MICB_uc003nto.3_Silent_p.S302S	NM_005931	NP_005922	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	345	Cytoplasmic (Potential).				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding				0						AGCTTGTGAGCCTGCAGGTCC	0.522													32	166					0	0	0	0	T	31477569	C	T	31477569	2	4	225	1	0	0	0	0	0	0	0	1	9644	738	26	4		4	MICB	6	31477569	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08		31477569	139637498	38	41047											
ZFAND3	60685	broad.mit.edu	37	chr6	38084398	38084398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaacggccacgactacttGagaatacggaacggtccgag	14	6	11	10	5	0	1	0	1	0	1	1	5	1	2	2	3	4	0	2	3	6	4			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:38084398G>A	uc003onx.2	+	5	827	c.412G>A	c.(412-414)GAG>AAG	p.E138K		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	138							DNA binding|zinc ion binding			ovary(1)	1						ACGACTACTTGAGAATACGGA	0.498													18	116					0	0	0	0	A	38084398	G	A	38084398	3	1	225	1	0	0	0	0	1	0	0	0	17724	1291	45	2	430	2	ZFAND3	6	38084398	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	6606829	38084398	133030669	39	41048											
DEFB113	245927	broad.mit.edu	37	chr6	49937338	49937338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaatacaaagtatcttcaTtgctgatgcagttacacttg	15	13	6	7	0	2	1	1	1	1	0	2	1	2	1	0	0	4	4	0	0	6	6			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:49937338T>C	uc011dwq.1	-	1	1	c.1A>G	c.(1-3)ATG>GTG	p.M1V		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	beta-defensin 113 precursor	1					defense response to bacterium	extracellular region					0	Lung NSC(77;0.042)					AGTATCTTCATTGCTGATGCA	0.343													16	89					0	0	0	0	C	49937338	T	C	49937338	3	2	225	1	0	0	0	0	1	0	0	0	4438	1507	52	5	247	5	DEFB113	6	49937338	Missense_Mutation	SNP	T	TCGA-CV-5431-01A-01D-1512-08	11852940	49937338	121177729	40	41049											
KLHL31	401265	broad.mit.edu	37	chr6	53519101	53519101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcagtaaggcctgggcGtcccccaacagtgacgagga	9	7	12	13	2	1	1	1	1	1	0	3	3	2	2	3	3	1	1	3	3	2	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:53519101G>A	uc003pcb.3	-	2	1111	c.970C>T	c.(970-972)CGC>TGC	p.R324C		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	kelch repeat and BTB (POZ) domain containing 1	324	Kelch 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					ovary(1)	1	Lung NSC(77;0.0158)					AGGCCTGGGCGTCCCCCAACA	0.478													54	116					0	0	0	0	A	53519101	G	A	53519101	3	1	225	1	0	0	0	0	1	0	0	0	8437	1145	40	1	942	1	KLHL31	6	53519101	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	3581763	53519101	117595966	41	41050											
DST	667	broad.mit.edu	37	chr6	56426989	56426989	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttccttcaccatttaatActgctccacctgcaaaaata	12	13	3	13	0	1	0	1	0	0	0	3	0	3	0	4	0	3	3	4	0	5	6			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:56426989A>G	uc003pdf.2	-	50	7686	c.7658T>C	c.(7657-7659)GTA>GCA	p.V2553A	DST_uc003pcz.3_Missense_Mutation_p.V2375A|DST_uc011dxj.1_Missense_Mutation_p.V2404A|DST_uc011dxk.1_Missense_Mutation_p.V2415A|DST_uc003pcy.3_Missense_Mutation_p.V2049A	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4461					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCATTTAATACTGCTCCACC	0.303													2	5					0	0	0	0	G	56426989	A	G	56426989	3	3	225	1	0	0	0	0	1	0	0	0	4819	391	14	5	9561	5	DST	6	56426989	Missense_Mutation	SNP	A	TCGA-CV-5431-01A-01D-1512-08	2907888	56426989	114688078	42	41051											
OSTM1	28962	broad.mit.edu	37	chr6	108395463	108395463	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtacccacccccgcggcTcggctgatgttgtccatctt	4	11	9	17	3	1	1	0	1	1	0	3	1	2	1	5	2	1	4	5	2	1	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:108395463T>A	uc003psd.2	-	1	479	c.393A>T	c.(391-393)CGA>CGT	p.R131R		NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	131	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		CCCCCGCGGCTCGGCTGATGT	0.597													8	23					0	0	0	0	A	108395463	T	A	108395463	2	1	225	1	0	0	0	0	0	0	0	1	11369	1538	54	5		5	OSTM1	6	108395463	Silent	SNP	T	TCGA-CV-5431-01A-01D-1512-08	51968474	108395463	62719604	43	41052											
MICAL1	64780	broad.mit.edu	37	chr6	109774946	109774946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtggagcacgttgtggcGagagaacttggtgcgctttt	7	11	17	6	3	0	1	0	0	0	1	0	5	0	2	0	4	3	3	0	4	1	4			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:109774946G>A	uc003ptj.2	-	2	615	c.361C>T	c.(361-363)CGC>TGC	p.R121C	MICAL1_uc003ptk.2_Missense_Mutation_p.R121C|MICAL1_uc010kdr.2_Missense_Mutation_p.R121C|MICAL1_uc011eaq.1_Missense_Mutation_p.R140C	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	121					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ACGTTGTGGCGAGAGAACTTG	0.662													10	51					0	0	0	0	A	109774946	G	A	109774946	3	1	225	1	0	0	0	0	1	0	0	0	9638	1058	37	1	2934	1	MICAL1	6	109774946	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	1379483	109774946	61340121	44	41053											
LAMA2	3908	broad.mit.edu	37	chr6	129468119	129468119	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtattactactcggtcAaggatatttcagttggaggg	10	13	12	6	1	2	0	2	0	0	0	3	2	2	2	0	4	3	3	0	4	5	6			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:129468119A>G	uc003qbn.2	+	6	940	c.835A>G	c.(835-837)AAG>GAG	p.K279E	LAMA2_uc003qbo.2_Missense_Mutation_p.K279E	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	279	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTACTCGGTCAAGGATATTTC	0.403													31	227					0	0	0	0	G	129468119	A	G	129468119	3	3	225	1	0	0	0	0	1	0	0	0	8659	131	5	5	857	5	LAMA2	6	129468119	Missense_Mutation	SNP	A	TCGA-CV-5431-01A-01D-1512-08	19693173	129468119	41646948	45	41054											
LAMA2	3908	broad.mit.edu	37	chr6	129774131	129774131	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtatcttgttttttttaaAgatcaaagtatctgtgtctt	9	22	6	4	0	4	1	1	0	3	1	4	1	4	1	0	0	0	3	0	0	5	9			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:129774131A>C	uc003qbn.2	+	45	6535	c.6430_splice	c.e45-2	p.I2144_splice	LAMA2_uc003qbo.2_Splice_Site_p.I2144_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor						cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTTTTTTAAAGATCAAAGTA	0.343													13	65					0	0	0	0	C	129774131	A	C	129774131	5	2	225	1	0	0	0	0	0	0	1	0	8659	86	3	5	6610	5	LAMA2	6	129774131	Splice_Site	SNP	A	TCGA-CV-5431-01A-01D-1512-08	306012	129774131	41340936	46	41055											
RAB32	10981	broad.mit.edu	37	chr6	146865133	146865133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgggcaagaccagcatcatCaagcgctacgtccaccagct	11	6	10	14	2	2	1	2	0	0	1	3	1	3	1	3	1	4	4	3	1	3	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:146865133C>G	uc003qln.1	+	1	306	c.126C>G	c.(124-126)ATC>ATG	p.I42M		NM_006834	NP_006825	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	42					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding				0		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		CCAGCATCATCAAGCGCTACG	0.522													13	36					0	0	0	0	G	146865133	C	G	146865133	3	3	225	1	0	0	0	0	1	0	0	0	13003	816	29	2	128	2	RAB32	6	146865133	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	17091002	146865133	24249934	47	41056											
DGKB	1607	broad.mit.edu	37	chr7	14622703	14622703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatccaaaacccagcccacgGttccatctccaccacaggct	12	6	5	18	1	1	0	0	0	1	0	4	0	3	0	6	2	2	2	6	2	3	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr7:14622703G>A	uc003ssz.2	-	17	1683	c.1496C>T	c.(1495-1497)ACC>ATC	p.T499I	DGKB_uc011jxt.1_Missense_Mutation_p.T480I|DGKB_uc003sta.2_Missense_Mutation_p.T499I|DGKB_uc011jxu.1_Missense_Mutation_p.T498I	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	499	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	CCAGCCCACGGTTCCATCTCC	0.398													8	55					0	0	0	0	A	14622703	G	A	14622703	3	1	225	1	0	0	0	0	1	0	0	0	4503	1261	44	4	969	4	DGKB	7	14622703	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08		14622703	144515960	48	41057											
BAZ1B	9031	broad.mit.edu	37	chr7	72865288	72865288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaagtctgagcttcccGgattgctgtcttccatttct	7	14	10	10	1	3	2	0	1	3	1	5	4	5	3	2	2	2	2	2	2	1	4			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr7:72865288G>A	uc003tyc.2	-	14	3814	c.3469C>T	c.(3469-3471)CGG>TGG	p.R1157W		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1157					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGAGCTTCCCGGATTGCTGTC	0.488													31	114					0	0	0	0	A	72865288	G	A	72865288	3	1	225	1	0	0	0	0	1	0	0	0	1334	1115	39	1	1006	1	BAZ1B	7	72865288	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	58242585	72865288	86273375	49	41058											
SEMA3E	9723	broad.mit.edu	37	chr7	83014715	83014715	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttgttctctatgccataAgccagatgttcttcagtctt	7	17	7	10	0	4	1	1	0	3	1	5	1	4	1	2	0	2	3	2	0	2	7			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr7:83014715A>T	uc003uhy.1	-	16	2236	c.1770T>A	c.(1768-1770)GCT>GCA	p.A590A		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	590	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				CTATGCCATAAGCCAGATGTT	0.373													29	281					0	0	0	0	T	83014715	A	T	83014715	2	4	225	1	0	0	0	0	0	0	0	1	14115	59	3	5		5	SEMA3E	7	83014715	Silent	SNP	A	TCGA-CV-5431-01A-01D-1512-08	10149427	83014715	76123948	50	41059											
PARP12	64761	broad.mit.edu	37	chr7	139741627	139741627	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaggtactggctgactcAgagcacaggatcctacagaa	14	7	11	9	0	1	4	1	2	0	2	2	5	2	5	1	3	3	3	1	3	4	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr7:139741627A>G	uc003vvl.1	-	6	1873	c.999T>C	c.(997-999)TCT>TCC	p.S333S	PARP12_uc003vvk.1_Silent_p.S119S|PARP12_uc010lnf.1_RNA	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	poly ADP-ribose polymerase 12	333	WWE 1.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)					TGGCTGACTCAGAGCACAGGA	0.527													56	111					0	0	0	0	G	139741627	A	G	139741627	2	3	225	1	0	0	0	0	0	0	0	1	11528	175	7	5		5	PARP12	7	139741627	Silent	SNP	A	TCGA-CV-5431-01A-01D-1512-08	56726912	139741627	19397036	51	41060											
CSMD3	114788	broad.mit.edu	37	chr8	113812428	113812428	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaccaacagatccaacactTtcgtccgtttgaaggtgcag	13	9	8	11	2	0	2	0	1	0	1	3	2	2	2	3	1	4	2	3	1	4	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr8:113812428T>A	uc003ynu.2	-	13	2094	c.1935A>T	c.(1933-1935)GAA>GAT	p.E645D	CSMD3_uc003ynt.2_Missense_Mutation_p.E605D|CSMD3_uc011lhx.1_Missense_Mutation_p.E541D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	645	Extracellular (Potential).|CUB 3.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ATCCAACACTTTCGTCCGTTT	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			37	90					0	0	0	0	A	113812428	T	A	113812428	3	1	225	1	0	0	0	0	1	0	0	0	3978	1838	64	5	9424	5	CSMD3	8	113812428	Missense_Mutation	SNP	T	TCGA-CV-5431-01A-01D-1512-08		113812428	32551594	52	41061											
KCNV2	169522	broad.mit.edu	37	chr9	2717793	2717793	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctacaggccctggaacacGacggagaatgagggcagcca	13	3	14	11	2	0	2	0	1	0	1	0	5	0	3	2	4	4	2	2	4	3	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr9:2717793G>A	uc003zho.1	+	1	268	c.54G>A	c.(52-54)ACG>ACA	p.T18T		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	18	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		CCTGGAACACGACGGAGAATG	0.607													74	158					0	0	0	0	A	2717793	G	A	2717793	2	1	225	1	0	0	0	0	0	0	0	1	8148	1045	37	1		1	KCNV2	9	2717793	Silent	SNP	G	TCGA-CV-5431-01A-01D-1512-08		2717793	138495638	53	41062											
ORM1	5004	broad.mit.edu	37	chr9	117087155	117087155	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgacgtgaacgatgagaaGaactgggggctgtctgtcta	10	11	14	6	2	2	4	0	3	2	2	2	6	2	4	0	2	2	1	0	2	4	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr9:117087155G>C	uc004bik.3	+	4	525	c.414G>C	c.(412-414)AAG>AAC	p.K138N	ORM1_uc011lxo.1_Missense_Mutation_p.K138N	NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor	138					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	ACGATGAGAAGAACTGGGGGC	0.567													10	73					0	0	0	0	C	117087155	G	C	117087155	3	2	225	1	0	0	0	0	1	0	0	0	11338	933	33	2	428	2	ORM1	9	117087155	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	114369362	117087155	24126276	54	41063											
TLR4	7099	broad.mit.edu	37	chr9	120470945	120470945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacctgagctttaatcccctGaggcatttaggcagctatag	10	11	10	10	0	0	2	0	2	0	0	1	3	1	2	3	2	2	4	3	2	4	6			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr9:120470945G>A	uc004bjz.2	+	2	489	c.198G>A	c.(196-198)CTG>CTA	p.L66L	TLR4_uc004bka.2_Silent_p.L26L|TLR4_uc004bkb.2_Intron	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	66	LRR 1.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						TTAATCCCCTGAGGCATTTAG	0.438													29	212					0	0	0	0	A	120470945	G	A	120470945	2	1	225	1	0	0	0	0	0	0	0	1	16047	1277	45	2		2	TLR4	9	120470945	Silent	SNP	G	TCGA-CV-5431-01A-01D-1512-08	3383790	120470945	20742486	55	41064											
PHF19	26147	broad.mit.edu	37	chr9	123629194	123629194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcactgggtgcaggcctCgtggaaccactgcctgcacc	7	6	14	14	1	0	0	0	0	0	0	1	2	0	1	4	4	4	3	4	4	1	0			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr9:123629194C>T	uc004bks.1	-	7	917	c.664G>A	c.(664-666)GAG>AAG	p.E222K	PHF19_uc011lyf.1_Missense_Mutation_p.E13K|PHF19_uc004bkr.2_RNA	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	222	PHD-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2						GTGCAGGCCTCGTGGAACCAC	0.607													18	92					0	0	0	0	T	123629194	C	T	123629194	3	4	225	1	0	0	0	0	1	0	0	0	11901	893	31	1	1114	1	PHF19	9	123629194	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	3158249	123629194	17584237	56	41065											
GOLGA1	2800	broad.mit.edu	37	chr9	127685430	127685430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctctaattcatccatttCatctctcctttggaaaagat	10	15	3	13	0	4	1	2	0	2	1	7	2	6	2	4	1	0	0	4	1	3	4			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr9:127685430C>T	uc004bpc.2	-	8	847	c.505G>A	c.(505-507)GAA>AAA	p.E169K	GOLGA1_uc010mws.2_RNA|GOLGA1_uc010mwt.1_Missense_Mutation_p.E144K	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	169	Potential.					Golgi cisterna membrane				ovary(1)	1						TCATCCATTTCATCTCTCCTT	0.348													34	182					0	0	0	0	T	127685430	C	T	127685430	3	4	225	1	0	0	0	0	1	0	0	0	6602	835	29	2	1862	2	GOLGA1	9	127685430	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	4056236	127685430	13528001	57	41066											
DOLK	22845	broad.mit.edu	37	chr9	131708357	131708357	+	Frame_Shift_Del	DEL	A	A	-																															acatgcccaggagcaggtagAtgtgtgtcagaatgagtggt																										TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr9:131708357delA	uc004bwr.2	-	1	1656	c.1226delT	c.(1225-1227)ATCfs	p.I409fs	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	409	Helical; (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						GAGCAGGTAGATGTGTGTCAG	0.577													20	91	---	---	---	---					-	131708357	A	-	131708357	7	5	225	1	0	1	0	1	0	0	0	0	4739	333	12	0	394	0	DOLK	9	131708357	Frame_Shift_Del	DEL	A	TCGA-CV-5431-01A-01D-1512-08	4022927	131708357	9505074	58	41067											
SNAPC4	6621	broad.mit.edu	37	chr9	139272877	139272877	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcatattggctgggggctgCcaagagctgctcaacgctgg	7	10	14	10	1	2	1	2	0	0	1	2	1	2	1	1	4	4	5	1	4	3	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr9:139272877C>A	uc004chh.2	-	21	3411	c.3402G>T	c.(3400-3402)TGG>TGT	p.W1134C		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1134	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CTGGGGGCTGCCAAGAGCTGC	0.687													5	17					5.94e-07	6.6e-07	1	0	A	139272877	C	A	139272877	3	1	225	1	0	0	0	0	1	0	0	0	14925	740	26	4	1015	4	SNAPC4	9	139272877	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	7564520	139272877	1940554	59	41068											
TUBB8	347688	broad.mit.edu	37	chr10	94647	94647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatccacgagcacagcgCggggcacgtacctgccacct	9	4	11	17	4	0	1	0	0	0	1	1	2	1	1	5	2	4	3	5	2	1	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr10:94647C>T	uc001ifi.2	-	3	185	c.185G>A	c.(184-186)CGC>CAC	p.R62H	TUBB8_uc009xhe.2_Intron|TUBB8_uc010pzs.1_5'UTR	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	62					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GAGCACAGCGCGGGGCACGTA	0.697													14	53					0	0	0	0	T	94647	C	T	94647	3	4	225	1	0	0	0	0	1	0	0	0	16857	768	27	1	1157	1	TUBB8	10	94647	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08		94647	135440100	60	41069											
LRRC4C	57689	broad.mit.edu	37	chr11	40137559	40137559	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtctcaagtgcttgaagCtgttcactttgatgatctgg	8	15	11	7	0	3	3	2	3	2	0	4	3	3	3	0	1	2	3	0	1	2	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr11:40137559C>A	uc001mxa.1	-	2	2248	c.284G>T	c.(283-285)AGC>ATC	p.S95I	LRRC4C_uc001mxc.1_Missense_Mutation_p.S91I|LRRC4C_uc001mxd.1_Missense_Mutation_p.S91I|LRRC4C_uc001mxb.1_Missense_Mutation_p.S91I	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	95	LRR 1.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGCTTGAAGCTGTTCACTTT	0.473													32	90					7.73e-29	9.16e-29	1	0	A	40137559	C	A	40137559	3	1	225	1	0	0	0	0	1	0	0	0	9072	797	28	4	1642	4	LRRC4C	11	40137559	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08		40137559	94868957	61	41070											
OR5T3	390154	broad.mit.edu	37	chr11	56020434	56020434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgatttcattctgttGtccattctgaagatgcattc	7	18	7	9	0	3	3	1	2	2	1	6	3	5	3	2	0	1	2	2	0	1	5			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr11:56020434G>T	uc010rjd.1	+	1	759	c.759G>T	c.(757-759)TTG>TTT	p.L253F		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	253	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					TCATTCTGTTGTCCATTCTGA	0.423													58	380					6.18e-18	7.23e-18	1	0	T	56020434	G	T	56020434	3	4	225	1	0	0	0	0	1	0	0	0	11254	1368	48	4	761	4	OR5T3	11	56020434	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	15882875	56020434	78986082	62	41071											
MAP3K11	4296	broad.mit.edu	37	chr11	65380600	65380600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcacatggggaggcaCgcgccgcccggccagagctc	8	2	15	16	4	0	1	0	0	0	1	1	3	0	2	4	4	2	3	4	4	0	0			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr11:65380600C>T	uc001oew.2	-	1	1121	c.628G>A	c.(628-630)GTG>ATG	p.V210M	MAP3K11_uc010rol.1_5'Flank	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	210	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	p.V210M(1)		breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						TGGGGAGGCACGCGCCGCCCG	0.657													14	72					0	0	0	0	T	65380600	C	T	65380600	3	4	225	1	0	0	0	0	1	0	0	0	9314	536	19	1	1955	1	MAP3K11	11	65380600	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	9360166	65380600	69625916	63	41072											
ROBO3	64221	broad.mit.edu	37	chr11	124743756	124743756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttatgtgatagaggccttCaggtatggagaaagttttga	11	14	12	4	0	2	4	1	2	1	2	2	5	2	4	1	3	0	2	1	3	4	6			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr11:124743756C>T	uc001qbc.2	+	11	1974	c.1782C>T	c.(1780-1782)TTC>TTT	p.F594F	ROBO3_uc010saq.1_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.1_5'Flank|ROBO3_uc001qbe.2_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	594	Fibronectin type-III 1.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	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)		TAGAGGCCTTCAGGTATGGAG	0.498													15	14					0	0	0	0	T	124743756	C	T	124743756	2	4	225	1	0	0	0	0	0	0	0	1	13600	825	29	2		2	ROBO3	11	124743756	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08	59363156	124743756	10262760	64	41073											
DDX47	51202	broad.mit.edu	37	chr12	12966313	12966313	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacaagatggcggcaccCgaggaacacgattctccgac	12	5	10	14	4	2	1	1	0	1	1	3	5	2	2	2	3	1	1	2	3	2	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr12:12966313C>T	uc001rav.2	+	4	610	c.12C>T	c.(10-12)CCC>CCT	p.P4P	DDX47_uc009zhw.1_Silent_p.P4P|DDX47_uc001rax.2_Silent_p.P4P|DDX47_uc001ray.2_Silent_p.P4P|DDX47_uc010shn.1_Silent_p.P4P	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	4						nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding				0		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TGGCGGCACCCGAGGAACACG	0.567											OREG0021680	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	42					0	0	0	0	T	12966313	C	T	12966313	2	4	225	1	0	0	0	0	0	0	0	1	4397	639	23	1		1	DDX47	12	12966313	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08		12966313	120885582	65	41074											
EMP1	2012	broad.mit.edu	37	chr12	13364446	13364446	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaaaaaagagccaacaTgttggtattgctggctggta	16	9	10	6	0	0	1	0	0	0	1	0	1	0	1	1	3	3	5	1	3	8	4			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr12:13364446T>A	uc001rbr.2	+	2	249	c.2T>A	c.(1-3)ATG>AAG	p.M1K	EMP1_uc009zhy.2_Intron|EMP1_uc010shr.1_Missense_Mutation_p.M1K	NM_001423	NP_001414	P54849	EMP1_HUMAN	epithelial membrane protein 1	1	Helical; (Potential).				cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction					0		Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		AGAGCCAACATGTTGGTATTG	0.373													158	164					0	0	0	0	A	13364446	T	A	13364446	3	1	225	1	0	0	0	0	1	0	0	0	5139	1464	51	5	4	5	EMP1	12	13364446	Missense_Mutation	SNP	T	TCGA-CV-5431-01A-01D-1512-08	398133	13364446	120487449	66	41075											
BICD1	636	broad.mit.edu	37	chr12	32260449	32260449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggctgagtacgacagcCtcaaacaggagctggagcag	12	5	15	9	1	1	1	1	1	0	0	1	5	1	4	1	4	5	4	1	4	2	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr12:32260449C>T	uc001rku.2	+	1	265	c.184C>T	c.(184-186)CTC>TTC	p.L62F	BICD1_uc001rkv.2_Missense_Mutation_p.L62F|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	62	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GTACGACAGCCTCAAACAGGA	0.587													9	9					0	0	0	0	T	32260449	C	T	32260449	3	4	225	1	0	0	0	0	1	0	0	0	1433	681	24	4	186	4	BICD1	12	32260449	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	18896003	32260449	101591446	67	41076											
DNM1L	10059	broad.mit.edu	37	chr12	32895604	32895604	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagtaggccagctgtataaAtcatccttattggatgatct	11	14	8	8	0	2	1	1	1	1	0	3	2	3	2	2	2	1	3	2	2	6	6			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr12:32895604A>G	uc001rld.2	+	19	2237	c.2076A>G	c.(2074-2076)AAA>AAG	p.K692K	DNM1L_uc001rle.2_Silent_p.K666K|DNM1L_uc001rlf.2_Silent_p.K655K|DNM1L_uc010skh.1_Silent_p.K758K|DNM1L_uc001rlg.2_Silent_p.K747K|DNM1L_uc001rlh.2_Silent_p.K734K|DNM1L_uc010ski.1_Silent_p.K489K	NM_012062	NP_036192	O00429	DNM1L_HUMAN	dynamin 1-like isoform 1	692	GED.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGCTGTATAAATCATCCTTAT	0.408													147	135					0	0	0	0	G	32895604	A	G	32895604	2	3	225	1	0	0	0	0	0	0	0	1	4707	98	4	5		5	DNM1L	12	32895604	Silent	SNP	A	TCGA-CV-5431-01A-01D-1512-08	635155	32895604	100956291	68	41077											
MYF5	4617	broad.mit.edu	37	chr12	81112691	81112691	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggattgcttatccaacaTagtggaccggatcacctcct	9	12	8	12	1	1	0	1	0	0	0	3	3	3	3	4	3	2	1	4	3	3	4			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr12:81112691T>C	uc001szg.2	+	3	764	c.629T>C	c.(628-630)ATA>ACA	p.I210T		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	210					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						TTATCCAACATAGTGGACCGG	0.458													38	115					0	0	0	0	C	81112691	T	C	81112691	3	2	225	1	0	0	0	0	1	0	0	0	10097	1406	49	5	639	5	MYF5	12	81112691	Missense_Mutation	SNP	T	TCGA-CV-5431-01A-01D-1512-08	48217087	81112691	52739204	69	41078											
RHOF	54509	broad.mit.edu	37	chr12	122219075	122219075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctggtaggacaggggccGcagccggtcatagtcttctt	6	11	14	10	2	4	0	1	0	3	0	4	1	4	1	2	5	1	3	2	5	2	5			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr12:122219075G>A	uc001ubb.2	-	3	305	c.250C>T	c.(250-252)CGG>TGG	p.R84W	TMEM120B_uc001ubc.3_3'UTR|TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_Intron|RHOF_uc001ubd.3_Missense_Mutation_p.R84W	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	ras homolog gene family, member F precursor	84					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			ovary(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GACAGGGGCCGCAGCCGGTCA	0.617													10	65					0	0	0	0	A	122219075	G	A	122219075	3	1	225	1	0	0	0	0	1	0	0	0	13421	1086	38	1	397	1	RHOF	12	122219075	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	41106384	122219075	11632820	70	41079											
WDR66	144406	broad.mit.edu	37	chr12	122413558	122413558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagagcttccttttgtcatGagagcaattggcttttaccc	8	15	8	10	0	2	2	2	1	0	2	3	3	3	2	2	1	3	3	2	1	2	6			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr12:122413558G>A	uc009zxk.2	+	19	3115	c.2973G>A	c.(2971-2973)ATG>ATA	p.M991I		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	991							calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CTTTTGTCATGAGAGCAATTG	0.443													15	102					0	0	0	0	A	122413558	G	A	122413558	3	1	225	1	0	0	0	0	1	0	0	0	17413	1290	45	2	3102	2	WDR66	12	122413558	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	194483	122413558	11438337	71	41080											
ATP8A2	51761	broad.mit.edu	37	chr13	26273327	26273327	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggccacaagggcagccaTtactcagcactgcactgacc	11	6	9	15	0	2	1	2	1	0	0	2	1	2	1	3	2	4	3	3	2	2	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr13:26273327T>G	uc001uqk.2	+	25	2370	c.2228T>G	c.(2227-2229)ATT>AGT	p.I743S	ATP8A2_uc010tdi.1_Missense_Mutation_p.I703S|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.I293S	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	703	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGGGCAGCCATTACTCAGCAC	0.428													11	101					0	0	0	0	G	26273327	T	G	26273327	3	3	225	1	0	0	0	0	1	0	0	0	1197	1493	52	5	2326	5	ATP8A2	13	26273327	Missense_Mutation	SNP	T	TCGA-CV-5431-01A-01D-1512-08		26273327	88896551	72	41081											
PCDH20	64881	broad.mit.edu	37	chr13	61986457	61986457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagctgagtagaaactGtcagaattcctgtgacactg	11	10	11	9	0	1	4	1	2	0	2	3	4	3	4	2	1	2	2	2	1	3	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr13:61986457G>A	uc001vid.3	-	2	2139	c.1775C>T	c.(1774-1776)ACA>ATA	p.T592I	PCDH20_uc010thj.1_Missense_Mutation_p.T592I	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	565	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGTAGAAACTGTCAGAATTCC	0.473													22	213					0	0	0	0	A	61986457	G	A	61986457	3	1	225	1	0	0	0	0	1	0	0	0	11586	1377	48	4	1084	4	PCDH20	13	61986457	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	35713130	61986457	53183421	73	41082											
LMO7	4008	broad.mit.edu	37	chr13	76391321	76391321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtccatgagtgatgtcagCgcagaagatgttcaaaactt	14	10	10	7	1	2	4	2	2	0	2	3	4	3	4	1	0	2	2	1	0	4	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr13:76391321C>T	uc001vjv.2	+	9	2032	c.1272C>T	c.(1270-1272)AGC>AGT	p.S424S	LMO7_uc010thv.1_Silent_p.S375S|LMO7_uc001vjt.1_Silent_p.S323S|LMO7_uc010thw.1_Silent_p.S274S|LMO7_uc001vjw.1_Silent_p.S330S	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	709						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GTGATGTCAGCGCAGAAGATG	0.408													30	112					0	0	0	0	T	76391321	C	T	76391321	2	4	225	1	0	0	0	0	0	0	0	1	8910	767	27	1		1	LMO7	13	76391321	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08	14404864	76391321	38778557	74	41083											
JUB	84962	broad.mit.edu	37	chr14	23451267	23451268	+	Frame_Shift_Ins	INS	-	-	G																															ctgatttcgctcagcgtccaINSgggaaccttgctcccgggcc																										TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr14:23451267_23451268insG	uc001whz.2	-	1	584_585	c.208_209insC	c.(208-210)CTGfs	p.L70fs		NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	70	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		CTCAGCGTCCAGGGAACCTTGC	0.693													12	14	---	---	---	---					G	23451268	-	G	23451267	7	5	225	1	0	1	1	0	0	0	0	0	8021	188	7	0	1439	0	JUB	14	23451267	Frame_Shift_Ins	INS	-	TCGA-CV-5431-01A-01D-1512-08		23451267	83898273	75	41084											
MDGA2	161357	broad.mit.edu	37	chr14	47426843	47426843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgctggttccactgcagggGgatctgtagaaaagatatgt	11	11	13	6	0	1	2	0	0	1	2	2	3	2	3	1	3	2	4	1	3	4	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr14:47426843G>C	uc001wwj.3	-	9	1812	c.1616C>G	c.(1615-1617)CCC>CGC	p.P539R	MDGA2_uc001wwi.3_Missense_Mutation_p.P310R|MDGA2_uc010ani.2_Missense_Mutation_p.P99R	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	539					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CACTGCAGGGGGATCTGTAGA	0.438													18	128					0	0	0	0	C	47426843	G	C	47426843	3	2	225	1	0	0	0	0	1	0	0	0	9476	1232	43	4	1290	4	MDGA2	14	47426843	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	23975576	47426843	59922697	76	41085											
TRIP11	9321	broad.mit.edu	37	chr14	92472287	92472287	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaactaacttttcatttTccattttgacatcaaaagca	15	15	2	9	0	2	1	2	1	0	0	3	1	3	1	1	0	3	1	1	0	5	8			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr14:92472287T>A	uc001xzy.2	-	11	2821	c.2033A>T	c.(2032-2034)GAA>GTA	p.E678V	TRIP11_uc010auf.1_Missense_Mutation_p.E414V	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	678	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		CTTTTCATTTTCCATTTTGAC	0.318			T	PDGFRB	AML								21	128					0	0	0	0	A	92472287	T	A	92472287	3	1	225	1	0	0	0	0	1	0	0	0	16650	1783	62	5	3950	5	TRIP11	14	92472287	Missense_Mutation	SNP	T	TCGA-CV-5431-01A-01D-1512-08	45045444	92472287	14877253	77	41086											
KIAA0284	283638	broad.mit.edu	37	chr14	105359860	105359860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggccctccctcttgcagCtggtgcagcgcatccccgag	4	7	12	18	3	1	0	0	0	1	0	3	1	3	0	5	2	4	4	5	2	0	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr14:105359860C>G	uc010axb.2	+	15	4263	c.4039C>G	c.(4039-4041)CTG>GTG	p.L1347V	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.L1277V|KIAA0284_uc001yps.2_Missense_Mutation_p.L1288V|KIAA0284_uc001ypt.2_Missense_Mutation_p.L15V	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1382						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CCTCTTGCAGCTGGTGCAGCG	0.672													2	1					0	0	0	0	G	105359860	C	G	105359860	3	3	225	1	0	0	0	0	1	0	0	0	8217	811	28	4	4093	4	KIAA0284	14	105359860	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	12887573	105359860	1989680	78	41087											
CRTC3	64784	broad.mit.edu	37	chr15	91181740	91181740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcaagcccaggtgtcGccgccacccccttaccctgc	7	6	9	19	2	1	0	1	0	0	0	2	1	1	0	6	1	4	1	6	1	3	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr15:91181740G>A	uc002bpp.2	+	12	1435	c.1329G>A	c.(1327-1329)TCG>TCA	p.S443S	CRTC3_uc002bpo.2_Silent_p.S443S	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	443					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CCCAGGTGTCGCCGCCACCCC	0.632			T	MAML2	salivary gland mucoepidermoid								14	93					0	0	0	0	A	91181740	G	A	91181740	2	1	225	1	0	0	0	0	0	0	0	1	3931	1074	38	1		1	CRTC3	15	91181740	Silent	SNP	G	TCGA-CV-5431-01A-01D-1512-08		91181740	11349652	79	41088											
CHD2	1106	broad.mit.edu	37	chr15	93510590	93510590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agattttgaagaagaccatgGgaaggggagagaaaatggct	16	7	15	3	0	0	5	0	1	0	4	0	8	0	7	1	4	0	1	1	4	5	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr15:93510590G>T	uc002bsp.2	+	17	2611	c.2036G>T	c.(2035-2037)GGG>GTG	p.G679V	CHD2_uc002bso.1_Missense_Mutation_p.G679V	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	679					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAAGACCATGGGAAGGGGAGA	0.398													11	72					1.5e-05	1.64e-05	1	0	T	93510590	G	T	93510590	3	4	225	1	0	0	0	0	1	0	0	0	3354	1232	43	4	2102	4	CHD2	15	93510590	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	2328850	93510590	9020802	80	41089											
LINS1	55180	broad.mit.edu	37	chr15	101120736	101120737	+	Frame_Shift_Ins	INS	-	-	AATA																															ggaactcggttttgacagacINSaatatccgggttgtcatcac																								rs61741890	byFrequency	TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr15:101120736_101120737insAATA	uc002bwe.2	-	3	602_603	c.311_312insTATT	c.(310-312)TTGfs	p.L104fs	LINS1_uc002bwf.2_Frame_Shift_Ins_p.L104fs|LINS1_uc002bwg.2_Frame_Shift_Ins_p.L104fs|LINS1_uc002bwh.2_Frame_Shift_Ins_p.L104fs|LINS1_uc010usa.1_Intron|LINS1_uc002bwi.2_Frame_Shift_Ins_p.L104fs	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	104											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TTTTGACAGACAATATCCGGGT	0.406													12	122	---	---	---	---					AATA	101120737	-	AATA	101120736	7	5	225	1	0	1	1	0	0	0	0	0	8873	477	17	0	1985	0	LINS1	15	101120736	Frame_Shift_Ins	INS	-	TCGA-CV-5431-01A-01D-1512-08	7610146	101120736	1410656	81	41090											
PRSS36	146547	broad.mit.edu	37	chr16	31154165	31154165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctcaggttcacgggcgtgCgcagctgcagcagcgccagg	6	5	16	14	5	2	0	2	0	0	0	2	0	2	0	1	3	5	6	1	3	0	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr16:31154165C>T	uc002ebd.2	-	9	1309	c.1250G>A	c.(1249-1251)CGC>CAC	p.R417H	PRSS36_uc010vff.1_Missense_Mutation_p.R192H|PRSS36_uc010vfg.1_Missense_Mutation_p.R417H|PRSS36_uc010vfh.1_Missense_Mutation_p.R417H	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	417	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						CACGGGCGTGCGCAGCTGCAG	0.751													6	18					0	0	0	0	T	31154165	C	T	31154165	3	4	225	1	0	0	0	0	1	0	0	0	12704	768	27	1	1345	1	PRSS36	16	31154165	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08		31154165	59200588	82	41091											
ADCY7	113	broad.mit.edu	37	chr16	50339755	50339755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctggagaagggctttgagCgcgaggtgagggcccccagc	7	6	17	11	2	0	3	0	2	0	1	1	5	1	3	3	4	2	1	3	4	1	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr16:50339755C>T	uc002egd.1	+	13	2015	c.1747C>T	c.(1747-1749)CGC>TGC	p.R583C	ADCY7_uc002egc.1_Missense_Mutation_p.R583C	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	583	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GGGCTTTGAGCGCGAGGTGAG	0.677													9	53					0	0	0	0	T	50339755	C	T	50339755	3	4	225	1	0	0	0	0	1	0	0	0	299	768	27	1	1797	1	ADCY7	16	50339755	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	19185590	50339755	40014998	83	41092											
DPEP3	64180	broad.mit.edu	37	chr16	68011603	68011603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaacaaattgtcacacaCagctctggcagctgagtggg	12	9	10	10	0	3	1	2	1	1	0	3	1	3	1	0	2	3	3	0	2	2	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr16:68011603C>T	uc002evc.3	-	6	1055	c.961G>A	c.(961-963)GTG>ATG	p.V321M	DPEP3_uc010cex.2_Missense_Mutation_p.V321M	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	296					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TTGTCACACACAGCTCTGGCA	0.483													9	36					0	0	0	0	T	68011603	C	T	68011603	3	4	225	1	0	0	0	0	1	0	0	0	4751	478	17	4	600	4	DPEP3	16	68011603	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	17671848	68011603	22343150	84	41093											
PLCG2	5336	broad.mit.edu	37	chr16	81927341	81927341	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggtgaccagctgcggagCgagtcgtccccagaagctta	10	6	13	12	3	0	2	0	1	0	1	2	4	1	3	3	2	4	2	3	2	2	1			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr16:81927341C>T	uc002fgt.2	+	12	1166	c.1014C>T	c.(1012-1014)AGC>AGT	p.S338S	PLCG2_uc010chg.1_Silent_p.S338S	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	338	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						AGCTGCGGAGCGAGTCGTCCC	0.617													11	78					0	0	0	0	T	81927341	C	T	81927341	2	4	225	1	0	0	0	0	0	0	0	1	12108	767	27	1		1	PLCG2	16	81927341	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08	13915738	81927341	8427412	85	41094											
TP53	7157	broad.mit.edu	37	chr17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttccttccactcggAtaagatgctgaggaggggcc	10	9	12	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	2	3	4	2	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr17:7578265A>G	uc002gim.2	-	6	778	c.584T>C	c.(583-585)ATC>ACC	p.I195T	TP53_uc002gig.1_Missense_Mutation_p.I195T|TP53_uc002gih.2_Missense_Mutation_p.I195T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I63T|TP53_uc010cng.1_Missense_Mutation_p.I63T|TP53_uc002gii.1_Missense_Mutation_p.I63T|TP53_uc010cnh.1_Missense_Mutation_p.I195T|TP53_uc010cni.1_Missense_Mutation_p.I195T|TP53_uc002gij.2_Missense_Mutation_p.I195T|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102T|TP53_uc002gio.2_Missense_Mutation_p.I63T|TP53_uc010vug.1_Missense_Mutation_p.I156T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	195	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(61)|p.I195F(16)|p.I195N(12)|p.0?(7)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.I195fs*52(3)|p.K164_P219del(1)|p.I195L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.I195fs*12(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCACTCGGATAAGATGCTG	0.552		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	50					0	0	0	0	G	7578265	A	G	7578265	3	3	225	1	0	0	0	0	1	0	0	0	16476	333	12	5	710	5	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-CV-5431-01A-01D-1512-08		7578265	73616945	86	41095											
ARSG	22901	broad.mit.edu	37	chr17	66366598	66366598	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctaggagacaatggcccGtgggctcagaagtgtgagct	9	10	14	8	1	2	3	1	1	1	2	2	4	2	3	1	3	1	2	1	3	3	2	rs149931351	by1000genomes	TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr17:66366598G>A	uc002jhc.2	+	8	1711	c.915G>A	c.(913-915)CCG>CCA	p.P305P	ARSG_uc002jhb.1_Silent_p.P141P	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G precursor	305					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACAATGGCCCGTGGGCTCAGA	0.552													10	61					0	0	0	0	A	66366598	G	A	66366598	2	1	225	1	0	0	0	0	0	0	0	1	996	1132	40	1		1	ARSG	17	66366598	Silent	SNP	G	TCGA-CV-5431-01A-01D-1512-08	58788333	66366598	14828612	87	41096											
CASKIN2	57513	broad.mit.edu	37	chr17	73497569	73497569	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttgctccttggtgccAatgctcttctctgcggctct	2	15	8	16	1	4	0	0	0	4	0	6	0	5	0	3	2	4	3	3	2	1	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr17:73497569A>C	uc002joc.2	-	19	4048	c.3498T>G	c.(3496-3498)ATT>ATG	p.I1166M	CASKIN2_uc010wsc.1_Missense_Mutation_p.I1084M	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	1166						cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTGGTGCCAATGCTCTTCT	0.647													24	146					0	0	0	0	C	73497569	A	C	73497569	3	2	225	1	0	0	0	0	1	0	0	0	2692	126	5	5	118	5	CASKIN2	17	73497569	Missense_Mutation	SNP	A	TCGA-CV-5431-01A-01D-1512-08	7130971	73497569	7697641	88	41097											
CEP192	55125	broad.mit.edu	37	chr18	13056573	13056573	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatgggtacctcttccctCtgtaacccatattctaatac	9	14	6	12	0	3	0	0	0	3	0	4	1	4	1	3	2	3	2	3	2	5	7			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr18:13056573C>T	uc010xac.1	+	19	4064	c.3984C>T	c.(3982-3984)CTC>CTT	p.L1328L	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.L853L|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Silent_p.L1069L	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1328										ovary(4)|pancreas(1)	5						CCTCTTCCCTCTGTAACCCAT	0.468													36	218					0	0	0	0	T	13056573	C	T	13056573	2	4	225	1	0	0	0	0	0	0	0	1	3280	900	32	2		2	CEP192	18	13056573	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08		13056573	65020675	89	41098											
POTEC	388468	broad.mit.edu	37	chr18	14542737	14542737	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcttgtccagatcttctcGacggacgtggtacctcggct	6	11	12	12	4	2	1	0	0	2	1	5	4	3	2	2	3	2	3	2	3	1	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr18:14542737G>A	uc010dln.2	-	1	863	c.409C>T	c.(409-411)CGA>TGA	p.R137*	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	137										skin(3)	3						AGATCTTCTCGACGGACGTGG	0.602													28	159					0	0	0	0	A	14542737	G	A	14542737	4	1	225	1	0	0	0	0	0	1	0	0	12334	1066	37	1	1263	1	POTEC	18	14542737	Nonsense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	1486164	14542737	63534511	90	41099											
ZNF414	84330	broad.mit.edu	37	chr19	8577310	8577310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtgcagtttgctgtgaGccaccagctcctgcatgctg	6	12	12	11	0	0	1	0	1	0	0	1	1	1	1	3	0	6	7	3	0	1	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr19:8577310G>A	uc002mkf.2	-	4	609	c.491C>T	c.(490-492)GCT>GTT	p.A164V	ZNF414_uc002mke.3_Missense_Mutation_p.A164V|ZNF414_uc010dwf.2_Missense_Mutation_p.A153V	NM_032370	NP_115746	Q96IQ9	ZN414_HUMAN	zinc finger protein 414 isoform 2	164	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTTGCTGTGAGCCACCAGCTC	0.587													36	96					0	0	0	0	A	8577310	G	A	8577310	3	1	225	1	0	0	0	0	1	0	0	0	17986	971	34	4	715	4	ZNF414	19	8577310	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08		8577310	50551673	91	41100											
CCDC97	90324	broad.mit.edu	37	chr19	41825480	41825480	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtctctcctctgtgcaggGggcgagtacttcagtgatga	6	12	13	10	1	3	2	1	2	2	0	5	3	4	2	1	2	2	2	1	2	1	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr19:41825480G>A	uc002oqg.2	+	3	626	c.504G>A	c.(502-504)GGG>GGA	p.G168G	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	168											0						TCTGTGCAGGGGGCGAGTACT	0.572													23	176					0	0	0	0	A	41825480	G	A	41825480	2	1	225	1	0	0	0	0	0	0	0	1	2902	1246	43	4		4	CCDC97	19	41825480	Silent	SNP	G	TCGA-CV-5431-01A-01D-1512-08	33248170	41825480	17303503	92	41101											
TPRX1	284355	broad.mit.edu	37	chr19	48305393	48305393	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagccagggcttcgcatcCggccaggacttaagatggga	9	7	15	10	2	0	2	0	1	0	1	2	4	1	4	3	4	1	2	3	4	1	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr19:48305393C>A	uc002php.1	-	2	946	c.875G>T	c.(874-876)CGG>CTG	p.R292L		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox	292	Gly-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GCTTCGCATCCGGCCAGGACT	0.383													37	53					6.97e-18	8.13e-18	1	0	A	48305393	C	A	48305393	3	1	225	1	0	0	0	0	1	0	0	0	16517	652	23	3	364	3	TPRX1	19	48305393	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	6479913	48305393	10823590	93	41102											
PTPRT	11122	broad.mit.edu	37	chr20	40713412	40713412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttgagcagagagcgcttgGaggggggcgtgtcccggtag	6	8	19	8	3	0	2	0	1	0	1	1	4	1	3	1	5	2	3	1	5	1	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr20:40713412G>A	uc002xkg.2	-	29	4230	c.4046C>T	c.(4045-4047)TCC>TTC	p.S1349F	PTPRT_uc010ggj.2_Missense_Mutation_p.S1368F|PTPRT_uc010ggi.2_Missense_Mutation_p.S552F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1349	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGAGCGCTTGGAGGGGGGCGT	0.587													11	37					0	0	0	0	A	40713412	G	A	40713412	3	1	225	1	0	0	0	0	1	0	0	0	12894	1174	41	2	291	2	PTPRT	20	40713412	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08		40713412	22312108	94	41103											
CEBPB	1051	broad.mit.edu	37	chr20	48807602	48807602	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcctgggacccagcatGtctccccctgccgccgccgc	3	6	13	19	3	1	0	0	0	1	0	2	1	1	1	7	3	2	1	7	3	0	0			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr20:48807602G>C	uc002xvi.1	+	1	227	c.32G>C	c.(31-33)TGT>TCT	p.C11S	CEBPB_uc002xvh.2_RNA	NM_005194	NP_005185	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein beta	11	Required for Lys-174 sumoylation.				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity				0			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			GACCCAGCATGTCTCCCCCTG	0.701													4	8					0	0	0	0	C	48807602	G	C	48807602	3	2	225	1	0	0	0	0	1	0	0	0	3229	1377	48	4	34	4	CEBPB	20	48807602	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08	8094190	48807602	14217918	95	41104											
CDH26	60437	broad.mit.edu	37	chr20	58587740	58587740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactctttgggttcaaaagcGactccgtttgaggaaatata	12	12	10	7	2	2	1	1	1	1	0	3	4	3	2	1	2	1	2	1	2	5	5	rs141182679		TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr20:58587740G>A	uc002ybe.2	+	18	2754	c.2454G>A	c.(2452-2454)GCG>GCA	p.A818A	CDH26_uc002ybf.1_Intron|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Silent_p.A309A|CDH26_uc002ybh.2_Silent_p.A151A|CDH26_uc002ybi.2_Silent_p.A110A	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	Error:Variant_position_missing_in_Q8IXH8_after_alignment					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTTCAAAAGCGACTCCGTTTG	0.458													36	110					0	0	0	0	A	58587740	G	A	58587740	2	1	225	1	0	0	0	0	0	0	0	1	3139	1045	37	1		1	CDH26	20	58587740	Silent	SNP	G	TCGA-CV-5431-01A-01D-1512-08	9780138	58587740	4437780	96	41105											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057890	46057890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaccgcctcctgctgcagaCcctcctcctccgtgtccctc	3	9	7	22	2	0	1	0	0	0	1	6	1	5	1	8	0	2	3	8	0	0	0			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr21:46057890C>T	uc002zfq.2	+	1	618	c.556C>T	c.(556-558)CCC>TCC	p.P186S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	186	15 X 5 AA repeats of C-C-X(3).|13.					keratin filament					0						CTGCTGCAGACCCTCCTCCTC	0.652													40	162					0	0	0	0	T	46057890	C	T	46057890	3	4	225	1	0	0	0	0	1	0	0	0	8558	507	18	4	558	4	KRTAP10-10	21	46057890	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08		46057890	2072005	97	41106											
UBE2L3	7332	broad.mit.edu	37	chr22	21975875	21975875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgggctgacctagctgaaGaatactctaaggaccgtaaa	13	9	10	9	2	1	3	0	2	1	1	2	4	1	4	2	2	2	3	2	2	7	5			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr22:21975875G>A	uc002zva.1	+	4	459	c.382G>A	c.(382-384)GAA>AAA	p.E128K	UBE2L3_uc011aig.1_Missense_Mutation_p.E96K|UBE2L3_uc002zuz.1_3'UTR|UBE2L3_uc010gti.1_RNA	NM_003347	NP_003338	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3	128					cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0	Colorectal(54;0.105)					CCTAGCTGAAGAATACTCTAA	0.488													9	45					0	0	0	0	A	21975875	G	A	21975875	3	1	225	1	0	0	0	0	1	0	0	0	16959	943	33	2	396	2	UBE2L3	22	21975875	Missense_Mutation	SNP	G	TCGA-CV-5431-01A-01D-1512-08		21975875	29328691	98	41107											
EFCAB6	64800	broad.mit.edu	37	chr22	43985982	43985982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatgggtcagctccccttCggtaagagaacatccacatt	11	9	9	12	1	1	2	1	0	0	2	4	3	3	2	3	2	2	2	3	2	2	3			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr22:43985982C>T	uc003bdy.1	-	24	3219	c.3004G>A	c.(3004-3006)GAA>AAA	p.E1002K	EFCAB6_uc003bdz.1_Missense_Mutation_p.E850K|EFCAB6_uc010gzi.1_Missense_Mutation_p.E850K|EFCAB6_uc010gzj.1_Missense_Mutation_p.E228K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1002					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCTCCCCTTCGGTAAGAGAA	0.408													84	99					0	0	0	0	T	43985982	C	T	43985982	3	4	225	1	0	0	0	0	1	0	0	0	4975	893	31	1	1537	1	EFCAB6	22	43985982	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	22010107	43985982	7318584	99	41108											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29938080	29938080	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagaattcttaaggagcAtcttggggaacaggaagttt	12	14	11	4	0	2	1	0	0	2	1	2	4	2	4	0	4	2	2	0	4	5	6			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chrX:29938080A>G	uc004dby.2	+	8	1434	c.926A>G	c.(925-927)CAT>CGT	p.H309R		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	309	Extracellular (Potential).|Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						CTTAAGGAGCATCTTGGGGAA	0.363													42	107					0	0	0	0	G	29938080	A	G	29938080	3	3	225	1	0	0	0	0	1	0	0	0	7714	217	8	5	952	5	IL1RAPL1	23	29938080	Missense_Mutation	SNP	A	TCGA-CV-5431-01A-01D-1512-08		29938080	125332480	100	41109											
TEX11	56159	broad.mit.edu	37	chrX	69749731	69749731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtaaggtggttaaggaaaCgcaaggccaggccacaccac	14	4	13	10	1	0	0	0	0	0	0	0	1	0	1	3	6	1	3	3	6	4	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chrX:69749731C>T	uc004dyl.2	-	30	2846	c.2684G>A	c.(2683-2685)CGT>CAT	p.R895H	TEX11_uc004dyk.2_Missense_Mutation_p.R570H|TEX11_uc004dym.2_Missense_Mutation_p.R880H	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	testis expressed sequence 11 isoform 1	895							protein binding			ovary(3)|breast(1)|skin(1)	5	Renal(35;0.156)					GTTAAGGAAACGCAAGGCCAG	0.498													7	59					0	0	0	0	T	69749731	C	T	69749731	3	4	225	1	0	0	0	0	1	0	0	0	15868	536	19	1	146	1	TEX11	23	69749731	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	39811651	69749731	85520829	101	41110											
TCEAL5	340543	broad.mit.edu	37	chrX	102528984	102528984	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacatctctttgcatccAatgaaaaccacccattttct	11	14	3	13	0	2	1	0	1	2	0	4	1	3	1	3	0	3	2	3	0	4	4			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chrX:102528984A>C	uc004ejz.1	-	3	803	c.508T>G	c.(508-510)TGG>GGG	p.W170G		NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2						CTTTGCATCCAATGAAAACCA	0.512													43	106					0	0	0	0	C	102528984	A	C	102528984	3	2	225	1	0	0	0	0	1	0	0	0	15768	130	5	5	116	5	TCEAL5	23	102528984	Missense_Mutation	SNP	A	TCGA-CV-5431-01A-01D-1512-08	32779253	102528984	52741576	102	41111											
MID2	11043	broad.mit.edu	37	chrX	107170195	107170195	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaacaaatccctaatgatCctgtctggcttgcctgcccc	8	11	8	14	0	1	1	0	1	1	0	3	2	3	2	5	2	3	1	5	2	3	2			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chrX:107170195C>A	uc004enl.2	+	10	2673	c.2100C>A	c.(2098-2100)ATC>ATA	p.I700I	MID2_uc004enk.2_Silent_p.I670I	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	700	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						CCCTAATGATCCTGTCTGGCT	0.443													36	94					9.73e-26	1.15e-25	1	0	A	107170195	C	A	107170195	2	1	225	1	0	0	0	0	0	0	0	1	9647	845	30	2		2	MID2	23	107170195	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08	4641211	107170195	48100365	103	41112											
LUZP4	51213	broad.mit.edu	37	chrX	114536558	114536558	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtattttctaatacagaCgacattataatctataaaga	17	15	4	5	1	2	2	0	0	2	2	2	3	2	2	0	0	1	1	0	0	9	10			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chrX:114536558C>T	uc004eqa.2	+	2	127	c.93C>T	c.(91-93)GAC>GAT	p.D31D	LUZP4_uc004eqb.2_Translation_Start_Site	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	31						nucleus		p.D31Y(1)		ovary(2)	2						CTAATACAGACGACATTATAA	0.299													17	36					0	0	0	0	T	114536558	C	T	114536558	2	4	225	1	0	0	0	0	0	0	0	1	9152	550	19	1		1	LUZP4	23	114536558	Silent	SNP	C	TCGA-CV-5431-01A-01D-1512-08	7366363	114536558	40734002	104	41113											
MAP7D3	79649	broad.mit.edu	37	chrX	135314215	135314215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggggtgcatccacacttgCcttgggaggtgtctctactt	5	12	14	10	0	1	0	0	0	1	0	3	1	2	1	2	5	3	1	2	5	1	4			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08								Untested	Somatic	Unspecified	WXS	none			Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chrX:135314215C>T	uc004ezt.2	-	8	992	c.901G>A	c.(901-903)GCA>ACA	p.A301T	MAP7D3_uc004ezs.2_Missense_Mutation_p.A265T|MAP7D3_uc011mwc.1_Missense_Mutation_p.A283T|MAP7D3_uc010nsa.1_Missense_Mutation_p.A259T	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	301						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TCCACACTTGCCTTGGGAGGT	0.517													72	239					0	0	0	0	T	135314215	C	T	135314215	3	4	225	1	0	0	0	0	1	0	0	0	9338	739	26	4	1773	4	MAP7D3	23	135314215	Missense_Mutation	SNP	C	TCGA-CV-5431-01A-01D-1512-08	20777657	135314215	19956345	105	41114											
NOC2L	26155	broad.mit.edu	37	chr1	880925	880925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagaatccctcggtgtcgtCctcttcagagctgttcaggt	6	12	11	12	3	3	2	2	0	1	2	7	3	5	2	2	2	1	2	2	2	1	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:880925C>A	ENST00000327044.6	-	17	2075	c.2026G>T	c.(2026-2028)Gac>Tac	p.D676Y		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	676	Asp/Glu-rich (acidic).					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCGGTGTCGTCCTCTTCAGAG	0.577													42	18					4.01765e-15	5.27917e-15	1	0	A	880925	C	A	880925	3	1	226	1	0	0	0	0	1	0	0	0	10583	855	30	2	235	2	NOC2L	1	880925	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08		880925	248369696	1	41115											
MFN2	9927	broad.mit.edu	37	chr1	12064156	12064156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgaattaagcagattaCggaggaagtggagaggcagg	13	6	17	5	2	0	2	0	0	0	2	0	6	0	4	0	5	3	3	0	5	4	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:12064156C>T	ENST00000235329.5	+	12	1590	c.1268C>T	c.(1267-1269)aCg>aTg	p.T423M	MFN2_ENST00000444836.1_Missense_Mutation_p.T423M	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	423					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AAGCAGATTACGGAGGAAGTG	0.493													16	19					0	0	0	0	T	12064156	C	T	12064156	3	4	226	1	0	0	0	0	1	0	0	0	9593	536	19	1	1306	1	MFN2	1	12064156	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	11183231	12064156	237186465	2	41116											
CAPZB	832	broad.mit.edu	37	chr1	19712012	19712012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcacctataggagtcccCatctctgttgtagtcacaca	10	11	7	13	0	3	0	2	0	1	0	5	1	4	1	3	1	1	3	3	1	3	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:19712012C>A	ENST00000264203.3	-	4	773	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W	CAPZB_ENST00000264202.6_Missense_Mutation_p.G68W|CAPZB_ENST00000375144.1_Missense_Mutation_p.G56W|CAPZB_ENST00000433834.1_Missense_Mutation_p.G97W|CAPZB_ENST00000375142.1_Missense_Mutation_p.G68W|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000401084.2_Missense_Mutation_p.G68W			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	68					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TAGGAGTCCCCATCTCTGTTG	0.557													11	20					0.0692343	0.0707035	1	0	A	19712012	C	A	19712012	3	1	226	1	0	0	0	0	1	0	0	0	2668	594	21	4	644	4	CAPZB	1	19712012	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	7647856	19712012	229538609	3	41117											
WDTC1	23038	broad.mit.edu	37	chr1	27627909	27627909	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgcttgtgatgcattGggccgcgacatcacagctgc	8	8	13	12	3	1	1	1	1	0	0	1	2	1	1	1	1	5	4	1	1	0	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:27627909G>A	ENST00000319394.3	+	13	1960	c.1425G>A	c.(1423-1425)ttG>ttA	p.L475L	WDTC1_ENST00000361771.3_Silent_p.L474L	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	475							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GTGATGCATTGGGCCGCGACA	0.542													23	9					0	0	0	0	A	27627909	G	A	27627909	2	1	226	1	0	0	0	0	0	0	0	1	17438	1339	47	4		4	WDTC1	1	27627909	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	7915897	27627909	221622712	4	41118											
DEPDC1	55635	broad.mit.edu	37	chr1	68948183	68948183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaaagacactggatgcCtctttacttgaattccctgg	10	13	9	9	0	1	4	0	3	1	1	2	5	2	5	2	2	2	0	2	2	3	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:68948183C>T	ENST00000456315.2	-	8	1422	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	436					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	p.E436D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CACTGGATGCCTCTTTACTTG	0.373													70	45					0	0	0	0	T	68948183	C	T	68948183	2	4	226	1	0	0	0	0	0	0	0	1	4476	680	24	4		4	DEPDC1	1	68948183	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	41320274	68948183	180302438	5	41119											
COL11A1	1301	broad.mit.edu	37	chr1	103491779	103491779	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgtttttacctccgtcTgtgctattgtctcctcagtt	3	20	7	11	1	3	0	1	0	2	0	5	0	4	0	3	0	2	4	3	0	2	7			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:103491779T>A	ENST00000370096.3	-	6	1202	c.890A>T	c.(889-891)cAg>cTg	p.Q297L	COL11A1_ENST00000358392.2_Intron|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q297L|COL11A1_ENST00000353414.4_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	297	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACCTCCGTCTGTGCTATTGT	0.443													15	16					0	0	0	0	A	103491779	T	A	103491779	3	1	226	1	0	0	0	0	1	0	0	0	3697	1580	55	5	4935	5	COL11A1	1	103491779	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	34543596	103491779	145758842	6	41120											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131633	150131633	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagggagctgagagaccTgtacagacagatggacctgc	11	6	15	9	0	1	4	1	1	0	3	1	7	1	6	2	3	3	2	2	3	1	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:150131633T>A	ENST00000369124.4	+	6	1423	c.1145T>A	c.(1144-1146)cTg>cAg	p.L382Q	PLEKHO1_ENST00000369126.1_Missense_Mutation_p.L199Q|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.L348Q	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	382	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGAGACCTGTACAGACAG	0.622													7	13					0	0	0	0	A	150131633	T	A	150131633	3	1	226	1	0	0	0	0	1	0	0	0	12156	1580	55	5	1167	5	PLEKHO1	1	150131633	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	46639854	150131633	99118988	7	41121											
HRNR	388697	broad.mit.edu	37	chr1	152191599	152191599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggctagagaagtgacCtgaggcagaaccatgctgac	11	7	12	11	0	0	5	0	3	0	2	1	6	1	5	3	2	2	3	3	2	3	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:152191599C>A	ENST00000368801.2	-	3	2581	c.2506G>T	c.(2506-2508)Ggt>Tgt	p.G836C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	836					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAAGTGACCTGAGGCAGAA	0.547													17	39					3.52763e-06	3.97116e-06	1	0	A	152191599	C	A	152191599	3	1	226	1	0	0	0	0	1	0	0	0	7409	681	24	4	6050	4	HRNR	1	152191599	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	2059966	152191599	97059022	8	41122											
FLG	2312	broad.mit.edu	37	chr1	152283555	152283555	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcactgtcctggctaacActggatccctggtgcctgct	5	12	10	14	0	1	0	1	0	0	0	3	1	3	1	3	3	3	2	3	3	1	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:152283555A>T	ENST00000368799.1	-	3	3842	c.3807T>A	c.(3805-3807)agT>agA	p.S1269R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1269	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGCTAACACTGGATCCCT	0.552									Ichthyosis				71	95					0	0	0	0	T	152283555	A	T	152283555	3	4	226	1	0	0	0	0	1	0	0	0	5967	156	6	5	8382	5	FLG	1	152283555	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	91956	152283555	96967066	9	41123											
IVL	3713	broad.mit.edu	37	chr1	152882594	152882594	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaaacccagagcagcaGcttaagcaggagaaaacaca	19	2	10	10	0	0	3	0	0	0	3	0	4	0	3	1	1	6	5	1	1	5	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:152882594G>A	ENST00000368764.3	+	2	385	c.321G>A	c.(319-321)caG>caA	p.Q107Q	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	107					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCAGCAGCTTAAGCAGG	0.483													8	12					0	0	0	0	A	152882594	G	A	152882594	2	1	226	1	0	0	0	0	0	0	0	1	7982	962	34	4		4	IVL	1	152882594	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	599039	152882594	96368027	10	41124											
UBE2Q1	55585	broad.mit.edu	37	chr1	154528425	154528425	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgaccagatggggggcaCagcagggtatgactcctgaa	11	5	14	11	1	0	3	0	2	0	1	1	4	1	3	3	4	1	3	3	4	2	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:154528425C>G	ENST00000292211.4	-	2	422	c.343G>C	c.(343-345)Gtg>Ctg	p.V115L	UBE2Q1_ENST00000497453.1_5'UTR	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	115							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGGGGGGCACAGCAGGGTAT	0.527													15	37					0	0	0	0	G	154528425	C	G	154528425	3	3	226	1	0	0	0	0	1	0	0	0	16965	478	17	4	973	4	UBE2Q1	1	154528425	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	1645831	154528425	94722196	11	41125											
FCRL4	83417	broad.mit.edu	37	chr1	157556137	157556137	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcggtgccaggagaatgtgGtatcccctgtgccttcagcc	6	10	12	13	1	1	1	1	0	0	1	3	2	2	1	5	3	3	1	5	3	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:157556137G>C	ENST00000271532.1	-	6	1091	c.956C>G	c.(955-957)aCc>aGc	p.T319S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	319	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGAGAATGTGGTATCCCCTGT	0.617													15	37					0	0	0	0	C	157556137	G	C	157556137	3	2	226	1	0	0	0	0	1	0	0	0	5842	1261	44	4	619	4	FCRL4	1	157556137	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	3027712	157556137	91694484	12	41126											
CD1E	913	broad.mit.edu	37	chr1	158324270	158324270	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagctgggcacacagtgaGggctcaggatggctgggtga	9	6	17	9	0	1	2	1	2	0	0	1	3	1	3	0	5	1	4	0	5	0	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:158324270G>C	ENST00000368160.3	+	2	162	c.162G>C	c.(160-162)gaG>gaC	p.E54D	CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.E52D|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.E54D|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.E54D|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.E54D|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Missense_Mutation_p.E54D|CD1E_ENST00000368163.3_Missense_Mutation_p.E54D|CD1E_ENST00000368161.3_Missense_Mutation_p.E54D	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	54					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CACACAGTGAGGGCTCAGGAT	0.572													16	46					0	0	0	0	C	158324270	G	C	158324270	3	2	226	1	0	0	0	0	1	0	0	0	3007	991	35	4	168	4	CD1E	1	158324270	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	768133	158324270	90926351	13	41127											
SLAMF6	114836	broad.mit.edu	37	chr1	160460424	160460424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccgaagactatgcatatcCcagaaaccataaacagaatc	19	6	5	11	1	0	3	0	0	0	3	2	4	1	3	3	0	4	1	3	0	8	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:160460424C>A	ENST00000368059.3	-	4	767	c.698G>T	c.(697-699)gGg>gTg	p.G233V	SLAMF6_ENST00000368057.3_Missense_Mutation_p.G233V|SLAMF6_ENST00000368055.1_Missense_Mutation_p.G122V	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	233						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TATGCATATCCCAGAAACCAT	0.368													19	39					5.35267e-07	6.15157e-07	1	0	A	160460424	C	A	160460424	3	1	226	1	0	0	0	0	1	0	0	0	14456	623	22	4	320	4	SLAMF6	1	160460424	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	2136154	160460424	88790197	14	41128											
TNR	7143	broad.mit.edu	37	chr1	175375752	175375752	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctttctgtggtgacctcCagctgacactctgaaggctt	7	12	9	13	0	2	3	0	3	2	0	3	3	3	3	3	2	1	2	3	2	1	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:175375752C>A	ENST00000367674.1	-	3	807	c.99G>T	c.(97-99)ctG>ctT	p.L33L	TNR_ENST00000263525.2_Silent_p.L33L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	33					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGTGACCTCCAGCTGACACT	0.537													53	72					1.4709e-25	2.07435e-25	1	0	A	175375752	C	A	175375752	2	1	226	1	0	0	0	0	0	0	0	1	16432	581	21	4		4	TNR	1	175375752	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	14915328	175375752	73874869	15	41129											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179834003	179834003	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttaaaaccagctactcgAgagtcatgtattctttttct	10	15	8	8	1	3	1	1	0	2	1	4	2	3	1	1	1	3	3	1	1	4	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:179834003A>T	ENST00000553856.1	-	1	308	c.309T>A	c.(307-309)tcT>tcA	p.S103S	TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000482587.1_5'UTR	NM_022347.3	NP_071742.1																					CAGCTACTCGAGAGTCATGTA	0.408													26	75					0	0	0	0	T	179834003	A	T	179834003	2	4	226	1	0	0	0	0	0	0	0	1	16468	291	11	5		5	TOR1AIP2	1	179834003	Silent	SNP	A	TCGA-CV-5432-01A-02D-1683-08	4458251	179834003	69416618	16	41130											
QSOX1	5768	broad.mit.edu	37	chr1	180151443	180151443	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccggaatggctctgtctcCcgagtccccgtgtgagtatc	5	12	11	13	3	2	1	0	1	2	0	6	3	4	2	4	2	0	2	4	2	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:180151443C>A	ENST00000367602.3	+	6	815	c.741C>A	c.(739-741)tcC>tcA	p.S247S	QSOX1_ENST00000367600.5_Silent_p.S247S			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	247					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTCTGTCTCCCGAGTCCCCG	0.602													28	69					1.39806e-14	1.82458e-14	1	0	A	180151443	C	A	180151443	2	1	226	1	0	0	0	0	0	0	0	1	12965	610	22	4		4	QSOX1	1	180151443	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	317440	180151443	69099178	17	41131											
FAM129A	116496	broad.mit.edu	37	chr1	184868311	184868311	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaccaaatatccatggcttaCcttggtcttcaaaaactgtg	13	12	6	10	0	2	0	1	0	1	0	3	0	3	0	3	2	3	1	3	2	6	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:184868311C>T	ENST00000367511.3	-	2	380		c.e2+1			NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A						negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCATGGCTTACCTTGGTCTTC	0.393													6	81					0	0	0	0	T	184868311	C	T	184868311	5	4	226	1	0	0	0	0	0	0	1	0	5477	521	18	4	2651	4	FAM129A	1	184868311	Splice_Site	SNP	C	TCGA-CV-5432-01A-02D-1683-08	4716868	184868311	64382310	18	41132											
PRG4	10216	broad.mit.edu	37	chr1	186276244	186276244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctacacccaccactcccAaggagcctgcacccaccacc	11	3	5	22	0	0	0	0	0	0	0	1	1	1	1	8	1	4	1	8	1	2	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:186276244A>G	ENST00000445192.2	+	7	1438	c.1393A>G	c.(1393-1395)Aag>Gag	p.K465E	PRG4_ENST00000367486.3_Missense_Mutation_p.K422E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.K372E|PRG4_ENST00000367483.4_Missense_Mutation_p.K424E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	465	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCACTCCCAAGGAGCCTGC	0.657													7	33					0	0	0	0	G	186276244	A	G	186276244	3	3	226	1	0	0	0	0	1	0	0	0	12561	131	5	5	1415	5	PRG4	1	186276244	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	1407933	186276244	62974377	19	41133											
PTPRC	5788	broad.mit.edu	37	chr1	198687403	198687403	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgatttccgtgtaaaagatcTtcaatattcaacagactaca	15	12	5	9	2	3	2	2	0	1	2	4	3	4	2	1	0	2	1	1	0	6	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:198687403T>G	ENST00000367376.2	+	14	1796	c.1625T>G	c.(1624-1626)cTt>cGt	p.L542R	PTPRC_ENST00000594404.1_Missense_Mutation_p.L381R|PTPRC_ENST00000348564.6_Missense_Mutation_p.L383R|PTPRC_ENST00000352140.3_Missense_Mutation_p.L494R|PTPRC_ENST00000442510.2_Missense_Mutation_p.L544R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	542	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GTAAAAGATCTTCAATATTCA	0.343													9	8					0	0	0	0	G	198687403	T	G	198687403	3	3	226	1	0	0	0	0	1	0	0	0	12879	1609	56	5	1686	5	PTPRC	1	198687403	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	12411159	198687403	50563218	20	41134											
PTPRC	5788	broad.mit.edu	37	chr1	198713288	198713288	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctacataacatgaagaaaAgggatccacccagtgagccg	16	6	9	10	1	1	3	0	2	1	1	2	4	2	4	3	1	3	0	3	1	5	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:198713288A>T	ENST00000367376.2	+	26	2968	c.2797A>T	c.(2797-2799)Agg>Tgg	p.R933W	PTPRC_ENST00000594404.1_Missense_Mutation_p.R772W|PTPRC_ENST00000348564.6_Missense_Mutation_p.R774W|PTPRC_ENST00000352140.3_Missense_Mutation_p.R885W|PTPRC_ENST00000442510.2_Missense_Mutation_p.R935W	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	933					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CATGAAGAAAAGGGATCCACC	0.373													10	26					0	0	0	0	T	198713288	A	T	198713288	3	4	226	1	0	0	0	0	1	0	0	0	12879	63	3	5	2906	5	PTPRC	1	198713288	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	25885	198713288	50537333	21	41135											
IPO9	55705	broad.mit.edu	37	chr1	201821282	201821282	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacttgttgctcctgtcAttctcccagagatgtataag	8	14	8	11	0	2	1	1	0	1	1	4	2	3	1	3	0	2	3	3	0	2	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:201821282A>G	ENST00000361565.4	+	5	634	c.565A>G	c.(565-567)Att>Gtt	p.I189V	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	189					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGCTCCTGTCATTCTCCCAGA	0.403													10	41					0	0	0	0	G	201821282	A	G	201821282	3	3	226	1	0	0	0	0	1	0	0	0	7852	217	8	5	583	5	IPO9	1	201821282	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	3107994	201821282	47429339	22	41136											
CR1	1378	broad.mit.edu	37	chr1	207739242	207739242	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctggaatggaaagcctttGgaatagcagtgttccagtgt	10	11	14	6	0	0	0	0	0	0	0	1	3	1	3	2	4	2	3	2	4	4	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:207739242G>T	ENST00000367049.4	+	24	3926	c.3926G>T	c.(3925-3927)tGg>tTg	p.W1309L	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.W859L|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Missense_Mutation_p.W859L|CR1_ENST00000367053.1_Missense_Mutation_p.W859L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	859	Sushi 20.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAAAGCCTTTGGAATAGCAGT	0.433													13	57					6.31663e-08	7.45982e-08	1	0	T	207739242	G	T	207739242	3	4	226	1	0	0	0	0	1	0	0	0	3870	1357	47	4	4020	4	CR1	1	207739242	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	5917960	207739242	41511379	23	41137											
HIST3H3	8290	broad.mit.edu	37	chr1	228612628	228612628	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagccctcctaggcccgctcCccgcggatacggcgtgccag	5	6	12	18	5	0	0	0	0	0	0	2	1	2	1	6	3	3	1	6	3	3	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:228612628C>A	ENST00000366696.1	-	1	398	c.399G>T	c.(397-399)ggG>ggT	p.G133G		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	133					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				AGGCCCGCTCCCCGCGGATAC	0.587													16	23					3.32936e-07	3.84926e-07	1	0	A	228612628	C	A	228612628	2	1	226	1	0	0	0	0	0	0	0	1	7234	610	22	4		4	HIST3H3	1	228612628	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	20873386	228612628	20637993	24	41138											
KCNK1	3775	broad.mit.edu	37	chr1	233750265	233750265	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgccagcaccgtgctctcCaccacaggtagggtatcctg	7	9	10	15	2	1	0	0	0	1	0	4	0	2	0	5	2	2	4	5	2	2	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:233750265C>T	ENST00000366621.3	+	1	516	c.348C>T	c.(346-348)tcC>tcT	p.S116S		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	116						voltage-gated potassium channel complex	inward rectifier potassium channel activity			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)	CCGTGCTCTCCACCACAGGTA	0.706													3	10					0	0	0	0	T	233750265	C	T	233750265	2	4	226	1	0	0	0	0	0	0	0	1	8111	581	21	4		4	KCNK1	1	233750265	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	5137637	233750265	15500356	25	41139											
CHML	1122	broad.mit.edu	37	chr1	241798800	241798800	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatagtttcatccttcttgCgaagagtgatggcttcttct	8	16	9	8	1	4	2	1	1	3	1	5	4	5	2	1	1	1	2	1	1	3	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:241798800C>G	ENST00000366553.1	-	1	432	c.269G>C	c.(268-270)cGc>cCc	p.R90P	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	90					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATCCTTCTTGCGAAGAGTGAT	0.438													82	148					0	0	0	0	G	241798800	C	G	241798800	3	3	226	1	0	0	0	0	1	0	0	0	3380	768	27	3	1705	3	CHML	1	241798800	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	8048535	241798800	7451821	26	41140											
NLRP3	114548	broad.mit.edu	37	chr1	247593033	247593033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgaaacgctccagcatcCtggctgtaacattcggagat	10	10	11	10	2	0	2	0	1	0	1	3	3	2	2	2	2	3	4	2	2	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:247593033C>T	ENST00000366497.2	+	5	3083	c.2303C>T	c.(2302-2304)cCt>cTt	p.P768L	NLRP3_ENST00000366496.2_Missense_Mutation_p.P768L|NLRP3_ENST00000391828.3_Missense_Mutation_p.P768L|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000336119.3_Missense_Mutation_p.P768L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	825					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCCAGCATCCTGGCTGTAAC	0.498													11	42					0	0	0	0	T	247593033	C	T	247593033	3	4	226	1	0	0	0	0	1	0	0	0	10548	681	24	4	2317	4	NLRP3	1	247593033	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	5794233	247593033	1657588	27	41141											
OR2W5	441932	broad.mit.edu	37	chr1	247655019	247655019	+	RNA	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaccatgctggtagaagCgattcacctttgccctgggg	9	9	13	10	1	1	1	1	0	0	1	1	3	1	2	3	4	4	2	3	4	3	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:247655019C>A	ENST00000522351.1	+	0	650							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTGGTAGAAGCGATTCACCTT	0.582													24	91					7.38237e-10	9.10965e-10	1	0	A	247655019	C	A	247655019	1	1	226	0	1	0	0	0	0	0	0	0	11105	768	27	3		3	OR2W5	1	247655019	RNA	SNP	C	TCGA-CV-5432-01A-02D-1683-08	61986	247655019	1595602	28	41142											
OR2T12	127064	broad.mit.edu	37	chr1	248458823	248458823	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggacttggtgggctcTggtgtggttaaagagtccta	9	11	16	5	0	1	2	0	0	1	2	2	4	2	3	1	5	0	2	1	5	4	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:248458823T>C	ENST00000317996.1	-	1	57	c.58A>G	c.(58-60)Aga>Gga	p.R20G		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGGTGGGCTCTGGTGTGGTTA	0.468													31	47					0	0	0	0	C	248458823	T	C	248458823	3	2	226	1	0	0	0	0	1	0	0	0	11090	1588	55	5	907	5	OR2T12	1	248458823	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	803804	248458823	791798	29	41143											
OR2T4	127074	broad.mit.edu	37	chr1	248525119	248525119	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgctgtcctgatcctTctgatacactgtgacgccca	9	11	9	12	1	1	3	0	3	1	0	3	4	3	4	3	1	2	1	3	1	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:248525119T>C	ENST00000366475.1	+	1	237	c.237T>C	c.(235-237)ctT>ctC	p.L79L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTGATCCTTCTGATACACT	0.468													86	108					0	0	0	0	C	248525119	T	C	248525119	2	2	226	1	0	0	0	0	0	0	0	1	11098	1770	62	5		5	OR2T4	1	248525119	Silent	SNP	T	TCGA-CV-5432-01A-02D-1683-08	66296	248525119	725502	30	41144											
OR2T4	127074	broad.mit.edu	37	chr1	248525375	248525375	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgccatcctctccgttacCctgtcctcatgaaccatagg	7	12	6	16	1	3	1	1	1	2	0	6	1	5	1	6	1	3	1	6	1	3	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:248525375C>G	ENST00000366475.1	+	1	493	c.493C>G	c.(493-495)Cct>Gct	p.P165A		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCCGTTACCCTGTCCTCAT	0.522													33	130					0	0	0	0	G	248525375	C	G	248525375	3	3	226	1	0	0	0	0	1	0	0	0	11098	623	22	4	495	4	OR2T4	1	248525375	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	256	248525375	725246	31	41145											
PXDN	7837	broad.mit.edu	37	chr2	1642655	1642655	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtcttctgcatttccAgaacaaactctctgaagtca	11	13	7	10	0	4	3	1	2	3	1	6	3	5	3	1	1	3	1	1	1	3	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:1642655A>G	ENST00000252804.4	-	21	4219	c.4169T>C	c.(4168-4170)cTg>cCg	p.L1390P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1390					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGCATTTCCAGAACAAACTC	0.562													11	42					0	0	0	0	G	1642655	A	G	1642655	3	3	226	1	0	0	0	0	1	0	0	0	12929	188	7	5	282	5	PXDN	2	1642655	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08		1642655	241556718	32	41146											
PXDN	7837	broad.mit.edu	37	chr2	1670117	1670117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgtgatgttcacccgcGggtcaactggcaagggtgtg	8	8	16	9	3	2	1	2	1	0	0	2	1	2	1	1	4	1	2	1	4	3	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:1670117G>T	ENST00000252804.4	-	10	1210	c.1160C>A	c.(1159-1161)cCg>cAg	p.P387Q	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	387	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.P387Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTCACCCGCGGGTCAACTGG	0.632													6	23					8.12818e-05	8.83997e-05	1	0	T	1670117	G	T	1670117	3	4	226	1	0	0	0	0	1	0	0	0	12929	1116	39	3	3335	3	PXDN	2	1670117	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	27462	1670117	241529256	33	41147											
NBAS	51594	broad.mit.edu	37	chr2	15496497	15496497	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcgaagtgcctgctccacTaaaaggattagaacctgtcc	13	8	9	11	1	0	1	0	0	0	1	2	3	2	2	4	1	4	1	4	1	6	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:15496497T>A	ENST00000281513.5	-	33	3886	c.3861A>T	c.(3859-3861)ttA>ttT	p.L1287F	NBAS_ENST00000441750.1_Missense_Mutation_p.L1167F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1287										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCTGCTCCACTAAAAGGATTA	0.453													3	34					0	0	0	0	A	15496497	T	A	15496497	3	1	226	1	0	0	0	0	1	0	0	0	10256	1519	53	5	3334	5	NBAS	2	15496497	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	13826380	15496497	227702876	34	41148											
PRKD3	23683	broad.mit.edu	37	chr2	37505011	37505011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtatttgattactgaccaGgttatccctgctggtgtaat	9	16	9	7	0	0	2	0	2	0	0	1	2	1	2	2	2	2	4	2	2	4	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:37505011G>T	ENST00000379066.1	-	9	2056	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	PRKD3_ENST00000234179.2_Missense_Mutation_p.L432M			O94806	KPCD3_HUMAN	protein kinase D3	432	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTACTGACCAGGTTATCCCTG	0.378													83	43					1.13027e-35	1.62979e-35	1	0	T	37505011	G	T	37505011	3	4	226	1	0	0	0	0	1	0	0	0	12600	991	35	4	1422	4	PRKD3	2	37505011	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	22008514	37505011	205694362	35	41149											
KCNG3	170850	broad.mit.edu	37	chr2	42720364	42720364	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agatcatctcgttgtagaagGagagctcgcacatccgcggc	10	8	12	11	4	2	3	1	0	1	3	5	4	3	3	1	2	1	4	1	2	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:42720364G>C	ENST00000306078.1	-	1	873	c.278C>G	c.(277-279)tCc>tGc	p.S93C	KCNG3_ENST00000394973.4_Missense_Mutation_p.S93C	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	93						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						GTTGTAGAAGGAGAGCTCGCA	0.647													21	8					0	0	0	0	C	42720364	G	C	42720364	3	2	226	1	0	0	0	0	1	0	0	0	8082	1174	41	2	1040	2	KCNG3	2	42720364	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	5215353	42720364	200479009	36	41150											
MTIF2	4528	broad.mit.edu	37	chr2	55470638	55470638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttttctttctaaaaacCgtagaattgatctcttcttc	9	19	4	9	1	5	2	0	1	5	1	7	2	5	2	1	0	1	2	1	0	5	9			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:55470638C>T	ENST00000394600.3	-	13	2214	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	MTIF2_ENST00000403721.1_Missense_Mutation_p.R493Q|MTIF2_ENST00000263629.4_Missense_Mutation_p.R493Q	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	493					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTCTAAAAACCGTAGAATTGA	0.343													47	77					0	0	0	0	T	55470638	C	T	55470638	3	4	226	1	0	0	0	0	1	0	0	0	10004	652	23	1	725	1	MTIF2	2	55470638	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	12750274	55470638	187728735	37	41151											
EHBP1	23301	broad.mit.edu	37	chr2	63176055	63176055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaagcttcaaactctaGacatcggtagtaacttggag	16	9	8	8	1	2	1	1	0	1	1	3	2	2	2	0	2	4	3	0	2	7	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:63176055G>T	ENST00000263991.5	+	14	2661	c.2179G>T	c.(2179-2181)Gac>Tac	p.D727Y	EHBP1_ENST00000431489.1_Missense_Mutation_p.D692Y|EHBP1_ENST00000405289.1_Missense_Mutation_p.D692Y|EHBP1_ENST00000354487.3_Missense_Mutation_p.D692Y|EHBP1_ENST00000405015.3_Missense_Mutation_p.D692Y	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	727						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCAAACTCTAGACATCGGTAG	0.353													24	33					2.27525e-19	3.10629e-19	1	0	T	63176055	G	T	63176055	3	4	226	1	0	0	0	0	1	0	0	0	5011	942	33	2	2229	2	EHBP1	2	63176055	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	7705417	63176055	180023318	38	41152											
TTC31	64427	broad.mit.edu	37	chr2	74719855	74719855	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccgagagctccgctcttGccttctccacctcacactgg	6	9	8	18	2	3	1	1	0	2	1	5	2	4	1	5	1	3	2	5	1	0	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:74719855G>C	ENST00000233623.5	+	12	1251	c.1244G>C	c.(1243-1245)tGc>tCc	p.C415S	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	415							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CTCCGCTCTTGCCTTCTCCAC	0.597													21	62					0	0	0	0	C	74719855	G	C	74719855	3	2	226	1	0	0	0	0	1	0	0	0	16796	1319	46	4	1290	4	TTC31	2	74719855	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	11543800	74719855	168479518	39	41153											
SEMA4F	10505	broad.mit.edu	37	chr2	74906906	74906906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgggcgcttatgcctGtgaatgtcaggagggtgggg	6	9	19	7	1	1	1	1	1	0	0	1	2	1	2	2	6	1	1	2	6	2	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:74906906G>T	ENST00000357877.2	+	14	2032	c.1883G>T	c.(1882-1884)tGt>tTt	p.C628F	SEMA4F_ENST00000339773.5_Missense_Mutation_p.C473F|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	628	Ig-like C2-type.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GCTTATGCCTGTGAATGTCAG	0.662													25	84					8.24728e-16	1.0949e-15	1	0	T	74906906	G	T	74906906	3	4	226	1	0	0	0	0	1	0	0	0	14122	1377	48	4	1937	4	SEMA4F	2	74906906	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	187051	74906906	168292467	40	41154											
LRRTM4	80059	broad.mit.edu	37	chr2	77745756	77745756	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgctcatactcttgctcTgcgccaggaatctgaaaccc	10	10	7	14	1	4	1	1	1	3	0	4	2	4	2	2	1	5	2	2	1	3	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:77745756T>G	ENST00000409088.3	-	3	1653	c.1239A>C	c.(1237-1239)gcA>gcC	p.A413A	LRRTM4_ENST00000409093.1_Silent_p.A413A|LRRTM4_ENST00000409884.1_Silent_p.A413A|LRRTM4_ENST00000409282.1_Silent_p.A414A|LRRTM4_ENST00000409911.1_Silent_p.A414A	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	413						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACTCTTGCTCTGCGCCAGGAA	0.473													36	28					0	0	0	0	G	77745756	T	G	77745756	2	3	226	1	0	0	0	0	0	0	0	1	9106	1567	55	5		5	LRRTM4	2	77745756	Silent	SNP	T	TCGA-CV-5432-01A-02D-1683-08	2838850	77745756	165453617	41	41155											
CNNM4	26504	broad.mit.edu	37	chr2	97464940	97464940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccgaaataagccggccGactacttcatcctcatcctg	11	8	6	16	3	2	0	2	0	0	0	4	2	4	0	5	1	2	0	5	1	3	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:97464940G>T	ENST00000377075.2	+	4	1926	c.1828G>T	c.(1828-1830)Gac>Tac	p.D610Y	CNNM4_ENST00000540067.1_Missense_Mutation_p.D97Y|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	610					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TAAGCCGGCCGACTACTTCAT	0.592													32	54					6.19805e-25	8.70894e-25	1	0	T	97464940	G	T	97464940	3	4	226	1	0	0	0	0	1	0	0	0	3645	1058	37	3	1842	3	CNNM4	2	97464940	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	19719184	97464940	145734433	42	41156											
RANBP2	5903	broad.mit.edu	37	chr2	109367719	109367719	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattttttaattttatttcaGgtgctattcgagcacataat	12	19	5	5	1	1	0	1	0	0	0	2	1	1	0	0	1	2	2	0	1	5	9			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:109367719G>T	ENST00000283195.6	+	10	1399		c.e10-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTTATTTCAGGTGCTATTCG	0.338													77	142					8.50452e-49	1.23556e-48	1	0	T	109367719	G	T	109367719	5	4	226	1	0	0	0	0	0	0	1	0	13110	1014	35	4	1311	4	RANBP2	2	109367719	Splice_Site	SNP	G	TCGA-CV-5432-01A-02D-1683-08	11902779	109367719	133831654	43	41157											
DPP10	57628	broad.mit.edu	37	chr2	116283477	116283477	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttctttttctaggtaAccttcaaagcatcaagacat	11	18	4	8	0	4	1	2	0	2	1	4	1	4	1	1	1	2	2	1	1	4	8			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:116283477A>T	ENST00000410059.1	+	5	850	c.370A>T	c.(370-372)Acc>Tcc	p.T124S	DPP10_ENST00000393147.2_Missense_Mutation_p.T128S|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.T117S|DPP10_ENST00000409163.1_Missense_Mutation_p.T74S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	124					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCTAGGTAACCTTCAAAGC	0.279													6	41					0	0	0	0	T	116283477	A	T	116283477	3	4	226	1	0	0	0	0	1	0	0	0	4763	43	2	5	559	5	DPP10	2	116283477	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	6915758	116283477	126915896	44	41158											
DPP10	57628	broad.mit.edu	37	chr2	116497324	116497324	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttattctagaggaactccTgcattctcacatcgcccact	10	13	5	13	1	2	1	1	0	2	1	5	2	3	2	2	1	2	1	2	1	3	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:116497324T>A	ENST00000410059.1	+	9	1187	c.707T>A	c.(706-708)cTg>cAg	p.L236Q	DPP10_ENST00000393147.2_Missense_Mutation_p.L240Q|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.L229Q|DPP10_ENST00000409163.1_Missense_Mutation_p.L186Q	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	236					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GAGGAACTCCTGCATTCTCAC	0.458													37	42					0	0	0	0	A	116497324	T	A	116497324	3	1	226	1	0	0	0	0	1	0	0	0	4763	1580	55	5	912	5	DPP10	2	116497324	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	213847	116497324	126702049	45	41159											
CNTNAP5	129684	broad.mit.edu	37	chr2	125281880	125281880	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctcttgtttctcttgcagGcagcaacttgaatgatggcc	7	14	9	11	0	2	2	0	2	2	0	4	2	2	2	1	2	3	4	1	2	2	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:125281880G>A	ENST00000431078.1	+	9	1689	c.1324_splice	c.e9-1	p.G442_splice		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	442	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTCTTGCAGGCAGCAACTTG	0.547													26	27					0	0	0	0	A	125281880	G	A	125281880	5	1	226	1	0	0	0	0	0	0	1	0	3680	1217	42	4	1359	4	CNTNAP5	2	125281880	Splice_Site	SNP	G	TCGA-CV-5432-01A-02D-1683-08	8784556	125281880	117917493	46	41160											
THSD7B	80731	broad.mit.edu	37	chr2	138414459	138414459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtgggccgccagtctaGatcaaggacttttataattc	10	12	10	9	1	2	1	1	0	1	1	3	3	2	2	2	2	0	0	2	2	4	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:138414459G>T	ENST00000409968.1	+	23	4377	c.4199G>T	c.(4198-4200)aGa>aTa	p.R1400I	THSD7B_ENST00000413152.2_Missense_Mutation_p.R1372I|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1403I|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGCCAGTCTAGATCAAGGACT	0.463													17	75					6.49762e-13	8.33861e-13	1	0	T	138414459	G	T	138414459	3	4	226	1	0	0	0	0	1	0	0	0	15974	942	33	2	4197	2	THSD7B	2	138414459	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	13132579	138414459	104784914	47	41161											
LRP1B	53353	broad.mit.edu	37	chr2	141709504	141709504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggttagtggctcacaagttgGgaattctgtgaaagatataa	13	12	12	4	0	2	2	1	1	1	1	2	3	2	3	0	3	0	3	0	3	6	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:141709504G>T	ENST00000389484.3	-	19	3864	c.2893C>A	c.(2893-2895)Cca>Aca	p.P965T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	965					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACAAGTTGGGAATTCTGTG	0.398										TSP Lung(27;0.18)			7	30					8.12818e-05	8.83997e-05	1	0	T	141709504	G	T	141709504	3	4	226	1	0	0	0	0	1	0	0	0	9019	1232	43	4	11198	4	LRP1B	2	141709504	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	3295045	141709504	101489869	48	41162											
ZEB2	9839	broad.mit.edu	37	chr2	145157042	145157042	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgttgtggttctcaatcAttttgtcatcagtgaccaaa	11	16	7	7	0	4	1	4	1	1	0	5	1	4	1	1	1	0	2	1	1	3	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:145157042A>G	ENST00000558170.2	-	8	2896	c.1712T>C	c.(1711-1713)aTg>aCg	p.M571T	ZEB2_ENST00000409487.3_Missense_Mutation_p.M571T|ZEB2_ENST00000303660.4_Missense_Mutation_p.M571T|ZEB2_ENST00000539609.3_Missense_Mutation_p.M547T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	571						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTTCTCAATCATTTTGTCATC	0.408													26	86					0	0	0	0	G	145157042	A	G	145157042	3	3	226	1	0	0	0	0	1	0	0	0	17719	217	8	5	1944	5	ZEB2	2	145157042	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	3447538	145157042	98042331	49	41163											
NEB	4703	broad.mit.edu	37	chr2	152486055	152486055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtgttgctactcacatCactgataacgtccctggagg	9	11	11	10	1	2	1	2	1	0	0	3	2	3	2	1	3	3	2	1	3	3	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:152486055C>A	ENST00000397345.3	-	68	10031	c.9829G>T	c.(9829-9831)Gat>Tat	p.D3277Y	NEB_ENST00000603639.1_Missense_Mutation_p.D3277Y|NEB_ENST00000427231.2_Missense_Mutation_p.D3277Y|NEB_ENST00000409198.1_Missense_Mutation_p.D3034Y|NEB_ENST00000172853.10_Missense_Mutation_p.D3034Y|NEB_ENST00000604864.1_Missense_Mutation_p.D3277Y	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3277					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTACTCACATCACTGATAACG	0.448													12	61					5.50884e-06	6.12978e-06	1	0	A	152486055	C	A	152486055	3	1	226	1	0	0	0	0	1	0	0	0	10372	826	29	2	16317	2	NEB	2	152486055	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	7329013	152486055	90713318	50	41164											
GALNT13	114805	broad.mit.edu	37	chr2	155295167	155295167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttggatgtttctagaCtcaatggacctgtaatcatg	9	15	10	7	0	3	1	2	0	1	1	3	3	3	3	1	2	1	3	1	2	3	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:155295167C>T	ENST00000392825.3	+	12	2026	c.1459C>T	c.(1459-1461)Ctc>Ttc	p.L487F	GALNT13_ENST00000487047.1_3'UTR|AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_Missense_Mutation_p.L487F	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	487	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTTTCTAGACTCAATGGACC	0.318													15	88					0	0	0	0	T	155295167	C	T	155295167	3	4	226	1	0	0	0	0	1	0	0	0	6260	565	20	4	1497	4	GALNT13	2	155295167	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	2809112	155295167	87904206	51	41165											
FIGN	55137	broad.mit.edu	37	chr2	164467941	164467941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagggagggctgaactgactCcagctttgctggcagtgata	9	9	15	8	0	0	3	0	3	0	0	1	5	1	4	1	3	3	4	1	3	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:164467941C>G	ENST00000333129.3	-	3	715	c.401G>C	c.(400-402)gGa>gCa	p.G134A	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	134						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGAACTGACTCCAGCTTTGCT	0.498													23	66					0	0	0	0	G	164467941	C	G	164467941	3	3	226	1	0	0	0	0	1	0	0	0	5936	855	30	2	1882	2	FIGN	2	164467941	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	9172774	164467941	78731432	52	41166											
SLC38A11	151258	broad.mit.edu	37	chr2	165795989	165795989	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgctatatttcggtacaAggataaaggcagagtaaagg	14	11	11	5	1	0	1	0	0	0	1	1	2	0	2	0	4	2	4	0	4	8	7			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:165795989A>C	ENST00000303735.4	-	4	604	c.274T>G	c.(274-276)Ttg>Gtg	p.L92V	SLC38A11_ENST00000409058.1_Missense_Mutation_p.L145V|SLC38A11_ENST00000409662.1_Missense_Mutation_p.L114V|SLC38A11_ENST00000409149.3_Missense_Mutation_p.L114V	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	114					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TTTCGGTACAAGGATAAAGGC	0.343													9	48					0	0	0	0	C	165795989	A	C	165795989	3	2	226	1	0	0	0	0	1	0	0	0	14691	69	3	5	908	5	SLC38A11	2	165795989	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	1328048	165795989	77403384	53	41167											
SCN7A	6332	broad.mit.edu	37	chr2	167328890	167328890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggaaggaaaatgatcctGcccagacacctcttgcaaag	14	6	10	11	1	1	2	0	1	1	1	2	5	2	4	3	2	2	1	3	2	4	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:167328890G>T	ENST00000409855.1	-	5	635	c.509C>A	c.(508-510)gCa>gAa	p.A170E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	170					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AAATGATCCTGCCCAGACACC	0.343													3	11					6.4e-05	7.01994e-05	1	0	T	167328890	G	T	167328890	3	4	226	1	0	0	0	0	1	0	0	0	14010	1319	46	4	4623	4	SCN7A	2	167328890	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1532901	167328890	75870483	54	41168											
TTN	7273	broad.mit.edu	37	chr2	179438979	179438979	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggtctctcttttcaacGatataactggtaattttaaa	13	15	7	6	1	3	0	1	0	2	0	4	2	3	1	0	3	2	1	0	3	7	7			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179438979G>T	ENST00000589042.1	-	326	72104	c.71880C>A	c.(71878-71880)atC>atA	p.I23960I	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.I15020I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.I21392I|TTN_ENST00000342175.6_Silent_p.I15087I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I22319I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.I14895I|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22319							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)			TCTTTTCAACGATATAACTGG	0.413													10	35					1.58986e-06	1.8056e-06	1	0	T	179438979	G	T	179438979	2	4	226	1	0	0	0	0	0	0	0	1	16831	1048	37	3		3	TTN	2	179438979	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	12110089	179438979	63760394	55	41169											
TTN	7273	broad.mit.edu	37	chr2	179474460	179474460	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagcccgagaaggttcactAatacccgcggcgttctctgc	8	9	11	13	4	2	1	1	0	1	1	3	2	2	1	2	2	3	3	2	2	4	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179474460A>G	ENST00000589042.1	-	272	51914	c.51690T>C	c.(51688-51690)atT>atC	p.I17230I	TTN_ENST00000359218.5_Silent_p.I8290I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.I14662I|TTN_ENST00000342175.6_Silent_p.I8357I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.I15589I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.I8165I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15589	Fibronectin type-III 24.						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)			AAGGTTCACTAATACCCGCGG	0.458													100	107					0	0	0	0	G	179474460	A	G	179474460	2	3	226	1	0	0	0	0	0	0	0	1	16831	358	13	5		5	TTN	2	179474460	Silent	SNP	A	TCGA-CV-5432-01A-02D-1683-08	35481	179474460	63724913	56	41170											
TTN	7273	broad.mit.edu	37	chr2	179516662	179516662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaacttcagcaggaggctCttctagggcaacttcctcag	10	9	9	13	0	4	0	2	0	2	0	5	1	5	1	1	3	3	3	1	3	3	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179516662C>T	ENST00000589042.1	-	205	39552	c.39328G>A	c.(39328-39330)Gag>Aag	p.E13110K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10676K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11603K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11463							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)			GCAGGAGGCTCTTCTAGGGCA	0.483													5	13					0	0	0	0	T	179516662	C	T	179516662	3	4	226	1	0	0	0	0	1	0	0	0	16831	922	32	2	68575	2	TTN	2	179516662	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	42202	179516662	63682711	57	41171											
TTN	7273	broad.mit.edu	37	chr2	179582094	179582094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctttagatcaaagaaaGgaggcacttcatgctctgaa	14	9	10	8	0	3	3	2	1	1	2	3	4	3	4	0	3	1	3	0	3	4	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179582094G>A	ENST00000589042.1	-	88	25591	c.25367C>T	c.(25366-25368)cCt>cTt	p.P8456L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P7212L|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P8139L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8139	Ig-like 67.						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)			ATCAAAGAAAGGAGGCACTTC	0.403													11	41					0	0	0	0	A	179582094	G	A	179582094	3	1	226	1	0	0	0	0	1	0	0	0	16831	1000	35	4	79262	4	TTN	2	179582094	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	65432	179582094	63617279	58	41172											
TTN	7273	broad.mit.edu	37	chr2	179584098	179584098	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggctgagccagagactcGgcactccaaaacaactgagg	12	4	13	12	2	0	3	0	2	0	1	2	4	1	3	2	4	3	2	2	4	3	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179584098G>A	ENST00000589042.1	-	83	24243	c.24019C>T	c.(24019-24021)Cga>Tga	p.R8007*	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6763*|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.R7690*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7690	Ig-like 62.						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)			CCAGAGACTCGGCACTCCAAA	0.517													11	68					0	0	0	0	A	179584098	G	A	179584098	4	1	226	1	0	0	0	0	0	1	0	0	16831	1124	39	1	80630	1	TTN	2	179584098	Nonsense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	2004	179584098	63615275	59	41173											
TTN	7273	broad.mit.edu	37	chr2	179654130	179654130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcttgtctagtagccataGtttctctagttctcagtatt	7	19	7	8	0	4	0	1	0	4	0	6	0	4	0	1	0	1	5	1	0	5	10			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179654130G>A	ENST00000589042.1	-	13	2257	c.2033C>T	c.(2032-2034)aCt>aTt	p.T678I	TTN_ENST00000359218.5_Missense_Mutation_p.T632I|TTN_ENST00000342992.6_Missense_Mutation_p.T678I|TTN_ENST00000342175.6_Missense_Mutation_p.T632I|TTN_ENST00000360870.5_Missense_Mutation_p.T678I|TTN_ENST00000591111.1_Missense_Mutation_p.T678I|TTN_ENST00000460472.2_Missense_Mutation_p.T632I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	678							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)			AGTAGCCATAGTTTCTCTAGT	0.373													35	64					0	0	0	0	A	179654130	G	A	179654130	3	1	226	1	0	0	0	0	1	0	0	0	16831	1029	36	4	109355	4	TTN	2	179654130	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	70032	179654130	63545243	60	41174											
TTN	7273	broad.mit.edu	37	chr2	179659664	179659664	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtacctctttagcaccagtGgcaacagcctctgctgcgta	9	10	9	13	1	2	0	0	0	2	0	2	0	2	0	3	1	6	5	3	1	4	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179659664G>A	ENST00000589042.1	-	7	1454	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	TTN_ENST00000359218.5_Silent_p.A410A|TTN_ENST00000342992.6_Silent_p.A410A|TTN_ENST00000342175.6_Silent_p.A410A|TTN_ENST00000360870.5_Silent_p.A410A|TTN_ENST00000591111.1_Silent_p.A410A|TTN_ENST00000460472.2_Silent_p.A410A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	410	Ala-rich.						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)			TAGCACCAGTGGCAACAGCCT	0.498													25	44					0	0	0	0	A	179659664	G	A	179659664	2	1	226	1	0	0	0	0	0	0	0	1	16831	1335	47	4		4	TTN	2	179659664	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	5534	179659664	63539709	61	41175											
TTN	7273	broad.mit.edu	37	chr2	179665398	179665398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgttgaacgaagttgggtgGtgctgtctcagctgcgggga	6	11	17	7	3	1	1	1	1	1	0	3	3	1	2	0	4	4	4	0	4	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179665398G>A	ENST00000589042.1	-	4	531	c.307C>T	c.(307-309)Cca>Tca	p.P103S	TTN_ENST00000359218.5_Missense_Mutation_p.P103S|TTN_ENST00000342992.6_Missense_Mutation_p.P103S|TTN_ENST00000342175.6_Missense_Mutation_p.P103S|TTN_ENST00000360870.5_Missense_Mutation_p.P103S|TTN_ENST00000591111.1_Missense_Mutation_p.P103S|TTN_ENST00000460472.2_Missense_Mutation_p.P103S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	103							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)			AAGTTGGGTGGTGCTGTCTCA	0.493													29	34					0	0	0	0	A	179665398	G	A	179665398	3	1	226	1	0	0	0	0	1	0	0	0	16831	1261	44	4	111117	4	TTN	2	179665398	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	5734	179665398	63533975	62	41176											
FSIP2	401024	broad.mit.edu	37	chr2	186678713	186678713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagcttgacatggccacaCcaaagacgatgcctgaaaca	14	6	9	12	1	0	4	0	3	0	1	0	5	0	4	3	1	3	1	3	1	2	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:186678713C>A	ENST00000343098.5	+	18	20536	c.20536C>A	c.(20536-20538)Cca>Aca	p.P6846T	FSIP2_ENST00000424728.1_Missense_Mutation_p.P6757T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CATGGCCACACCAAAGACGAT	0.433													10	41					1.58986e-06	1.8056e-06	1	0	A	186678713	C	A	186678713	3	1	226	1	0	0	0	0	1	0	0	0	6123	507	18	4	20606	4	FSIP2	2	186678713	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	7013315	186678713	56520660	63	41177											
FN1	2335	broad.mit.edu	37	chr2	216235085	216235085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtctttcagtgcctccactAtgacgttgtaggtggcacct	6	13	11	11	1	2	1	1	1	1	0	3	1	3	1	3	3	1	3	3	3	2	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:216235085A>G	ENST00000354785.4	-	41	7154	c.6785T>C	c.(6784-6786)aTa>aCa	p.I2262T	FN1_ENST00000323926.6_Missense_Mutation_p.I2231T|FN1_ENST00000359671.1_Missense_Mutation_p.I2171T|FN1_ENST00000357867.4_Missense_Mutation_p.I1961T|FN1_ENST00000357009.2_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.I2140T|FN1_ENST00000356005.4_Missense_Mutation_p.I2081T|FN1_ENST00000446046.1_Missense_Mutation_p.I2115T|FN1_ENST00000432072.2_Missense_Mutation_p.I2052T|FN1_ENST00000443816.1_Missense_Mutation_p.I2050T|FN1_ENST00000421182.1_Missense_Mutation_p.I2025T|FN1_ENST00000346544.3_Missense_Mutation_p.I2051T			P02751	FINC_HUMAN	fibronectin 1	2171	Fibrin-binding 2.|Fibronectin type-I 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCCTCCACTATGACGTTGTA	0.502													12	30					0	0	0	0	G	216235085	A	G	216235085	3	3	226	1	0	0	0	0	1	0	0	0	6007	449	16	5	672	5	FN1	2	216235085	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	29556372	216235085	26964288	64	41178											
INHA	3623	broad.mit.edu	37	chr2	220437168	220437168	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgccaggggctggagctGgcccgggaacttgttctggc	5	8	17	11	1	1	0	0	0	1	0	1	2	1	2	2	6	4	4	2	6	1	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:220437168G>A	ENST00000243786.2	+	1	252	c.72G>A	c.(70-72)ctG>ctA	p.L24L	INHA_ENST00000489456.1_Intron	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	24					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCTGGAGCTGGCCCGGGAAC	0.662											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	20					0	0	0	0	A	220437168	G	A	220437168	2	1	226	1	0	0	0	0	0	0	0	1	7793	1335	47	4		4	INHA	2	220437168	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	4202083	220437168	22762205	65	41179											
CUL3	8452	broad.mit.edu	37	chr2	225365205	225365205	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaccacctaaagatacCtatgtaaaacagaaagagat	20	7	5	9	0	1	3	1	0	0	3	1	4	1	3	3	0	3	1	3	0	8	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:225365205C>A	ENST00000264414.4	-	11	1824		c.e11-1		CUL3_ENST00000409096.1_Splice_Site|CUL3_ENST00000409777.1_Splice_Site|CUL3_ENST00000344951.4_Splice_Site	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTAAAGATACCTATGTAAAAC	0.428													17	57					1.62849e-17	2.19989e-17	1	0	A	225365205	C	A	225365205	5	1	226	1	0	0	0	0	0	0	1	0	4088	695	24	4	845	4	CUL3	2	225365205	Splice_Site	SNP	C	TCGA-CV-5432-01A-02D-1683-08	4928037	225365205	17834168	66	41180											
COL4A4	1286	broad.mit.edu	37	chr2	227924319	227924319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacctccaaaacccggatCtcccatgtcaccacgaaaac	13	7	4	17	2	3	0	2	0	1	0	5	2	4	1	5	1	2	0	5	1	4	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:227924319C>A	ENST00000396625.3	-	28	2392	c.2185G>T	c.(2185-2187)Gat>Tat	p.D729Y	COL4A4_ENST00000329662.7_Missense_Mutation_p.D729Y	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	729	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AAACCCGGATCTCCCATGTCA	0.453													23	71					0.000229342	0.000245951	1	0	A	227924319	C	A	227924319	3	1	226	1	0	0	0	0	1	0	0	0	3723	913	32	2	2971	2	COL4A4	2	227924319	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	2559114	227924319	15275054	67	41181											
CAPN10	11132	broad.mit.edu	37	chr2	241530316	241530316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttggcagtttggacgctggGtggaggtgaccacagatgac	8	10	16	7	1	0	3	0	2	0	1	0	5	0	5	1	5	0	3	1	5	0	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:241530316G>T	ENST00000391984.2	+	3	554	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	CAPN10_ENST00000354082.4_Missense_Mutation_p.V120L|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Missense_Mutation_p.V120L|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.V120L	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	120	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGGACGCTGGGTGGAGGTGAC	0.617													12	36					2.80697e-09	3.41989e-09	1	0	T	241530316	G	T	241530316	3	4	226	1	0	0	0	0	1	0	0	0	2648	1261	44	4	368	4	CAPN10	2	241530316	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	13605997	241530316	1669057	68	41182											
ZCWPW2	152098	broad.mit.edu	37	chr3	28520395	28520395	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attctcatgagcaaagactgGaaatgtgctgcctatcaaaa	15	10	8	8	0	2	2	2	1	1	1	3	3	2	3	1	1	3	2	1	1	5	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:28520395G>T	ENST00000383768.2	+	5	771	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	ZCWPW2_ENST00000421010.1_Nonsense_Mutation_p.E195*			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	195							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GCAAAGACTGGAAATGTGCTG	0.299													3	29					0.000602214	0.000631751	1	0	T	28520395	G	T	28520395	4	4	226	1	0	0	0	0	0	1	0	0	17693	1175	41	2	593	2	ZCWPW2	3	28520395	Nonsense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08		28520395	169502035	69	41183											
MLH1	4292	broad.mit.edu	37	chr3	37048514	37048514	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggaaaactgaaagcccCtcctaaaccatgtgctggca	14	7	9	11	0	0	2	0	1	0	1	1	3	1	3	4	2	4	2	4	2	5	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:37048514C>G	ENST00000231790.2	+	5	629	c.413C>G	c.(412-414)cCt>cGt	p.P138R	MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.P40R|MLH1_ENST00000492474.1_3'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	138					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CTGAAAGCCCCTCCTAAACCA	0.373		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				14	19					0	0	0	0	G	37048514	C	G	37048514	3	3	226	1	0	0	0	0	1	0	0	0	9686	681	24	4	431	4	MLH1	3	37048514	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	8528119	37048514	160973916	70	41184											
SCN11A	11280	broad.mit.edu	37	chr3	38949584	38949584	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcaagggaagtaagtgaActtctgtcaattcccatggc	11	12	10	8	0	3	1	2	1	1	0	4	2	4	2	1	2	1	2	1	2	5	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:38949584A>C	ENST00000302328.3	-	10	1527	c.1329T>G	c.(1327-1329)agT>agG	p.S443R	SCN11A_ENST00000456224.3_Missense_Mutation_p.S443R|SCN11A_ENST00000444237.2_Missense_Mutation_p.S443R|SCN11A_ENST00000450244.1_Missense_Mutation_p.S443R	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	443					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGTAAGTGAACTTCTGTCAA	0.388													24	31					0	0	0	0	C	38949584	A	C	38949584	3	2	226	1	0	0	0	0	1	0	0	0	14000	40	2	5	4114	5	SCN11A	3	38949584	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	1901070	38949584	159072846	71	41185											
RBM6	10180	broad.mit.edu	37	chr3	50091779	50091779	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttacagtgtaaggcaaaCattggtgggcaccgatcttc	10	11	10	10	1	1	0	0	0	1	0	3	1	2	0	2	3	2	3	2	3	3	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:50091779C>T	ENST00000443081.1	+	8	2167	c.1248C>T	c.(1246-1248)aaC>aaT	p.N416N	RBM6_ENST00000442092.1_Silent_p.N26N|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000266022.4_Silent_p.N548N|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Silent_p.N26N			P78332	RBM6_HUMAN	RNA binding motif protein 6	548					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GTAAGGCAAACATTGGTGGGC	0.383													27	116					0	0	0	0	T	50091779	C	T	50091779	2	4	226	1	0	0	0	0	0	0	0	1	13226	477	17	4		4	RBM6	3	50091779	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	11142195	50091779	147930651	72	41186											
GXYLT2	727936	broad.mit.edu	37	chr3	73016867	73016867	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcactctatgaagcaatacgGgatgtaagtgtgcccttgct	10	11	11	9	1	1	1	0	1	1	0	1	2	1	2	1	1	4	4	1	1	5	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:73016867G>T	ENST00000389617.4	+	6	1307	c.1146G>T	c.(1144-1146)cgG>cgT	p.R382R		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	382					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						AAGCAATACGGGATGTAAGTG	0.483													3	15					6.4e-05	7.01994e-05	1	0	T	73016867	G	T	73016867	2	4	226	1	0	0	0	0	0	0	0	1	6954	1219	43	4		4	GXYLT2	3	73016867	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	22925088	73016867	125005563	73	41187											
PDZRN3	23024	broad.mit.edu	37	chr3	73433279	73433279	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccacttcgggatctTccgtgatggagagcagattc	7	10	14	10	2	1	3	0	1	1	2	4	5	2	4	2	3	2	1	2	3	0	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:73433279T>G	ENST00000263666.4	-	10	2552	c.2438A>C	c.(2437-2439)gAa>gCa	p.E813A	PDZRN3_ENST00000462146.2_Missense_Mutation_p.E470A|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E470A|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E530A|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E535A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	813							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCGGGATCTTCCGTGATGGA	0.652													17	49					0	0	0	0	G	73433279	T	G	73433279	3	3	226	1	0	0	0	0	1	0	0	0	11780	1783	62	5	766	5	PDZRN3	3	73433279	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	416412	73433279	124589151	74	41188											
CNTN3	5067	broad.mit.edu	37	chr3	74411124	74411124	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtttacaatccaagctGaccaggctgcccacctgcac	9	8	9	15	0	0	1	0	1	0	0	1	1	1	1	4	2	4	4	4	2	3	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:74411124G>T	ENST00000263665.6	-	10	1308	c.1281C>A	c.(1279-1281)gtC>gtA	p.V427V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	427	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATCCAAGCTGACCAGGCTGC	0.502													7	30					5.18039e-06	5.78102e-06	1	0	T	74411124	G	T	74411124	2	4	226	1	0	0	0	0	0	0	0	1	3672	1277	45	2		2	CNTN3	3	74411124	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	977845	74411124	123611306	75	41189											
ROBO1	6091	broad.mit.edu	37	chr3	78766929	78766929	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacctaagacagtcagctcGgctacttcactctcacgttc	9	12	6	14	2	3	1	3	0	1	1	6	1	3	1	1	1	3	3	1	1	3	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:78766929G>A	ENST00000436010.2	-	4	1642	c.645C>T	c.(643-645)gcC>gcT	p.A215A	ROBO1_ENST00000464233.1_Silent_p.A254A|ROBO1_ENST00000467549.1_Silent_p.A215A|ROBO1_ENST00000495273.1_Silent_p.A215A			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	254	Ig-like C2-type 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGTCAGCTCGGCTACTTCAC	0.383													4	13					0	0	0	0	A	78766929	G	A	78766929	2	1	226	1	0	0	0	0	0	0	0	1	13598	1103	39	1		1	ROBO1	3	78766929	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	4355805	78766929	119255501	76	41190											
CADM2	253559	broad.mit.edu	37	chr3	85961535	85961535	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttcagatgtaaaatattTaaaagaagaggatgcaaatc	19	12	7	3	0	1	3	1	0	0	3	2	4	1	4	0	1	1	2	0	1	7	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:85961535T>G	ENST00000383699.3	+	6	1169	c.542T>G	c.(541-543)tTa>tGa	p.L181*	CADM2_ENST00000405615.2_Nonsense_Mutation_p.L174*|CADM2_ENST00000407528.2_Nonsense_Mutation_p.L172*	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	172	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTAAAATATTTAAAAGAAGAG	0.383													3	21					0	0	0	0	G	85961535	T	G	85961535	4	3	226	1	0	0	0	0	0	1	0	0	2592	1764	61	5	604	5	CADM2	3	85961535	Nonsense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	7194606	85961535	112060895	77	41191											
EPHA3	2042	broad.mit.edu	37	chr3	89156987	89156987	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccgcagccttccaatgaagGtaagccaggtaccgcgacgc	10	6	11	14	4	0	1	0	1	0	0	2	2	2	1	5	2	3	3	5	2	4	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:89156987G>C	ENST00000336596.2	+	1	313		c.e1+1		EPHA3_ENST00000452448.2_Splice_Site|EPHA3_ENST00000494014.1_Splice_Site	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3							extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCCAATGAAGGTAAGCCAGGT	0.597										TSP Lung(6;0.00050)			14	31					0	0	0	0	C	89156987	G	C	89156987	5	2	226	1	0	0	0	0	0	0	1	0	5206	1275	44	4	91	4	EPHA3	3	89156987	Splice_Site	SNP	G	TCGA-CV-5432-01A-02D-1683-08	3195452	89156987	108865443	78	41192											
TRAT1	50852	broad.mit.edu	37	chr3	108568076	108568076	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaatctgtaaataagaTgcaggaagccaccccatctg	16	7	9	9	0	2	2	0	0	2	2	2	4	2	3	3	1	2	2	3	1	5	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:108568076T>A	ENST00000295756.6	+	5	508	c.278T>A	c.(277-279)aTg>aAg	p.M93K	TRAT1_ENST00000426646.1_Missense_Mutation_p.M56K	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	93					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GTAAATAAGATGCAGGAAGCC	0.363													14	54					0	0	0	0	A	108568076	T	A	108568076	3	1	226	1	0	0	0	0	1	0	0	0	16561	1464	51	5	296	5	TRAT1	3	108568076	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	19411089	108568076	89454354	79	41193											
DPPA2	151871	broad.mit.edu	37	chr3	109026954	109026954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccttaggctgaacagctcTtgcagcaattcttgcccatg	9	11	9	12	0	2	1	0	1	2	0	2	1	2	1	2	1	6	4	2	1	3	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:109026954T>C	ENST00000478945.1	-	6	829	c.583A>G	c.(583-585)Aga>Gga	p.R195G		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	195						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAACAGCTCTTGCAGCAATT	0.438													25	91					0	0	0	0	C	109026954	T	C	109026954	3	2	226	1	0	0	0	0	1	0	0	0	4770	1617	56	5	325	5	DPPA2	3	109026954	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	458878	109026954	88995476	80	41194											
SEMA5B	54437	broad.mit.edu	37	chr3	122646669	122646669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagttatattgggcagtgCgaagcggtggcccactgccc	7	9	15	10	2	0	0	0	0	0	0	0	2	0	1	2	4	3	2	2	4	3	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:122646669C>A	ENST00000195173.4	-	8	1121	c.818G>T	c.(817-819)cGc>cTc	p.R273L	SEMA5B_ENST00000357599.3_Missense_Mutation_p.R273L|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R327L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	273	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TTGGGCAGTGCGAAGCGGTGG	0.632													6	40					2.7689e-08	3.31064e-08	1	0	A	122646669	C	A	122646669	3	1	226	1	0	0	0	0	1	0	0	0	14125	768	27	3	2701	3	SEMA5B	3	122646669	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	13619715	122646669	75375761	81	41195											
KALRN	8997	broad.mit.edu	37	chr3	123987646	123987646	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggacccctcccagctgacGgaggagtttgatggctccct	6	9	13	13	1	0	2	0	2	0	0	2	5	2	5	4	4	1	3	4	4	0	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:123987646G>A	ENST00000360013.3	+	5	634	c.507G>A	c.(505-507)acG>acA	p.T169T	KALRN_ENST00000460856.1_Silent_p.T169T|KALRN_ENST00000240874.3_Silent_p.T169T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	169	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.T169T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCCAGCTGACGGAGGAGTTTG	0.587													13	59					0	0	0	0	A	123987646	G	A	123987646	2	1	226	1	0	0	0	0	0	0	0	1	8028	1103	39	1		1	KALRN	3	123987646	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1340977	123987646	74034784	82	41196											
AMOTL2	51421	broad.mit.edu	37	chr3	134089875	134089875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcctcccggggccccaCggggatctcggtcccccgca	4	5	13	19	4	1	0	0	0	1	0	4	2	3	1	6	5	1	1	6	5	0	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:134089875C>A	ENST00000514516.1	-	2	753	c.575G>T	c.(574-576)cGt>cTt	p.R192L	AMOTL2_ENST00000249883.5_Missense_Mutation_p.R134L|AMOTL2_ENST00000513145.1_Missense_Mutation_p.R134L|AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000422605.2_Missense_Mutation_p.R134L	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	134										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CGGGGCCCCACGGGGATCTCG	0.687													11	7					0.00010058	0.00010908	1	0	A	134089875	C	A	134089875	3	1	226	1	0	0	0	0	1	0	0	0	584	536	19	3	1977	3	AMOTL2	3	134089875	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	10102229	134089875	63932555	83	41197											
AGTR1	185	broad.mit.edu	37	chr3	148459551	148459551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatatttttaagataattatGgcaattgtgcttttcttttt	10	22	6	3	0	1	1	0	0	1	1	1	2	1	1	0	1	1	2	0	1	5	11			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:148459551G>A	ENST00000542281.1	+	4	1175	c.729G>A	c.(727-729)atG>atA	p.M243I	AGTR1_ENST00000461609.1_Missense_Mutation_p.M243I|AGTR1_ENST00000474935.1_Missense_Mutation_p.M243I|AGTR1_ENST00000402260.1_Missense_Mutation_p.M243I|AGTR1_ENST00000404754.2_Missense_Mutation_p.M243I|AGTR1_ENST00000349243.3_Missense_Mutation_p.M243I|AGTR1_ENST00000418473.2_Missense_Mutation_p.M243I|AGTR1_ENST00000475347.1_Missense_Mutation_p.M243I|AGTR1_ENST00000497524.1_Missense_Mutation_p.M243I	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	243					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AGATAATTATGGCAATTGTGC	0.328													72	33					0	0	0	0	A	148459551	G	A	148459551	3	1	226	1	0	0	0	0	1	0	0	0	401	1348	47	4	731	4	AGTR1	3	148459551	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	14369676	148459551	49562879	84	41198											
P2RY1	5028	broad.mit.edu	37	chr3	152553781	152553781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcggcttcctgggcaacagCgtggccatctggatgttcgt	6	11	13	11	3	1	0	0	0	1	0	4	1	2	1	2	4	2	3	2	4	1	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:152553781C>A	ENST00000305097.3	+	1	1046	c.210C>A	c.(208-210)agC>agA	p.S70R		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	70					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGGGCAACAGCGTGGCCATCT	0.537													6	121					0.00116845	0.00121581	1	0	A	152553781	C	A	152553781	3	1	226	1	0	0	0	0	1	0	0	0	11417	767	27	3	212	3	P2RY1	3	152553781	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	4094230	152553781	45468649	85	41199											
PLCH1	23007	broad.mit.edu	37	chr3	155199248	155199248	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaacgactttgtcttcaCagtcacgcccttcttgtctc	6	15	5	15	2	6	0	2	0	4	0	7	1	6	0	1	0	1	0	1	0	1	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:155199248C>A	ENST00000460012.1	-	23	4834	c.4477G>T	c.(4477-4479)Gtg>Ttg	p.V1493L	PLCH1_ENST00000334686.6_Missense_Mutation_p.V1493L|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.V1493L|PLCH1_ENST00000340059.7_Missense_Mutation_p.V1531L|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1531					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGTCTTCACAGTCACGCCC	0.443													13	73					0.000219431	0.000235981	1	0	A	155199248	C	A	155199248	3	1	226	1	0	0	0	0	1	0	0	0	12109	478	17	4	494	4	PLCH1	3	155199248	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	2645467	155199248	42823182	86	41200											
SPATA16	83893	broad.mit.edu	37	chr3	172674544	172674544	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctattttatcagctcttAtttttgtcgcaaatggtgtg	7	21	7	6	1	3	0	1	0	2	0	4	0	3	0	0	1	1	2	0	1	4	7			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:172674544A>T	ENST00000351008.3	-	6	1187	c.1004T>A	c.(1003-1005)aTa>aAa	p.I335K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	335					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ATCAGCTCTTATTTTTGTCGC	0.368													5	57					0	0	0	0	T	172674544	A	T	172674544	3	4	226	1	0	0	0	0	1	0	0	0	15091	449	16	5	729	5	SPATA16	3	172674544	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	17475296	172674544	25347886	87	41201											
IL1RAP	3556	broad.mit.edu	37	chr3	190366326	190366326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaaggtgaaagagctgaaGagggctaagacggtgctcac	14	5	15	7	2	1	5	1	2	0	3	1	6	1	5	0	3	2	3	0	3	4	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:190366326G>T	ENST00000412504.2	+	11	1797	c.1545G>T	c.(1543-1545)aaG>aaT	p.K515N	IL1RAP_ENST00000439062.1_Missense_Mutation_p.K515N|IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000072516.3_Missense_Mutation_p.K515N|IL1RAP_ENST00000447382.1_Missense_Mutation_p.K515N			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	515	TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AAGAGCTGAAGAGGGCTAAGA	0.498													11	97					4.36969e-10	5.40942e-10	1	0	T	190366326	G	T	190366326	3	4	226	1	0	0	0	0	1	0	0	0	7713	933	33	2	1603	2	IL1RAP	3	190366326	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	17691782	190366326	7656104	88	41202											
OPA1	4976	broad.mit.edu	37	chr3	193366587	193366587	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttatattgcctagaatGaactatttgaaaaagctaaa	17	14	6	4	0	0	3	0	2	0	1	0	3	0	3	1	0	3	2	1	0	11	9			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:193366587G>T	ENST00000361510.2	+	21	2173	c.1939G>T	c.(1939-1941)Gaa>Taa	p.E647*	OPA1_ENST00000361908.3_Nonsense_Mutation_p.E629*|OPA1_ENST00000392438.3_Nonsense_Mutation_p.E592*|OPA1_ENST00000361828.2_Nonsense_Mutation_p.E610*|OPA1_ENST00000361150.2_Nonsense_Mutation_p.E593*|OPA1_ENST00000361715.2_Nonsense_Mutation_p.E611*	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	592					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TGCCTAGAATGAACTATTTGA	0.313													19	64					3.51602e-12	4.45285e-12	1	0	T	193366587	G	T	193366587	4	4	226	1	0	0	0	0	0	1	0	0	10942	1291	45	2	2021	2	OPA1	3	193366587	Nonsense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	3000261	193366587	4655843	89	41203											
FAM43A	131583	broad.mit.edu	37	chr3	194408726	194408726	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacagcacgggcagcgagAgctccatcgagggcgggggc	8	2	19	12	5	0	1	0	0	0	1	2	4	1	1	1	4	3	3	1	4	0	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:194408726A>T	ENST00000329759.4	+	1	2105	c.1171A>T	c.(1171-1173)Agc>Tgc	p.S391C		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	391										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		GGGCAGCGAGAGCTCCATCGA	0.736													7	15					0	0	0	0	T	194408726	A	T	194408726	3	4	226	1	0	0	0	0	1	0	0	0	5609	304	11	5	1173	5	FAM43A	3	194408726	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	1042139	194408726	3613704	90	41204											
C4orf50	389197	broad.mit.edu	37	chr4	5975389	5975389	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctgggactctacctcTgggactcccggagccaggaa	8	8	11	14	1	3	0	0	0	3	0	5	4	4	4	3	4	2	0	3	4	2	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:5975389T>C	ENST00000531445.1	-	4	1873	c.1827A>G	c.(1825-1827)ccA>ccG	p.P609P	C4orf50_ENST00000324058.5_Silent_p.P135P			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	135										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ACTCTACCTCTGGGACTCCCG	0.637													73	53					0	0	0	0	C	5975389	T	C	5975389	2	2	226	1	0	0	0	0	0	0	0	1	2297	1567	55	5		5	C4orf50	4	5975389	Silent	SNP	T	TCGA-CV-5432-01A-02D-1683-08		5975389	185178887	91	41205											
SORCS2	57537	broad.mit.edu	37	chr4	7533275	7533275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcatcagatttcgggacGtcctacaccaagctcaccct	10	9	8	14	2	3	1	3	0	0	1	5	2	4	2	3	2	2	1	3	2	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:7533275G>A	ENST00000507866.2	+	3	676	c.567G>A	c.(565-567)acG>acA	p.T189T	SORCS2_ENST00000511199.1_3'UTR|SORCS2_ENST00000329016.9_Silent_p.T17T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	189						integral to membrane	neuropeptide receptor activity	p.T39T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTTCGGGACGTCCTACACCA	0.602													13	10					0	0	0	0	A	7533275	G	A	7533275	2	1	226	1	0	0	0	0	0	0	0	1	15019	1132	40	1		1	SORCS2	4	7533275	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1557886	7533275	183621001	92	41206											
N4BP2	55728	broad.mit.edu	37	chr4	40104316	40104316	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaattctctgaagctcctgTagatttggatgccagtgaac	10	13	9	9	0	2	3	1	2	1	1	4	4	3	4	2	1	3	2	2	1	4	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:40104316T>C	ENST00000261435.6	+	4	1267	c.851T>C	c.(850-852)gTa>gCa	p.V284A		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	284						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GAAGCTCCTGTAGATTTGGAT	0.458													28	15					0	0	0	0	C	40104316	T	C	40104316	3	2	226	1	0	0	0	0	1	0	0	0	10180	1638	57	5	857	5	N4BP2	4	40104316	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	32571041	40104316	151049960	93	41207											
LPHN3	23284	broad.mit.edu	37	chr4	62679530	62679530	+	Missense_Mutation	SNP	A	A	C																															ttgttttgggtccacagggcAggcacatcatggacaagttt																										TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:62679530A>C	ENST00000512091.1	+	8	1946	c.1199A>C	c.(1198-1200)cAg>cCg	p.Q400P	LPHN3_ENST00000514157.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000506720.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000508946.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000508693.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000507625.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000514996.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000514591.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000506746.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000507164.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000545650.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000509896.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000506700.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000511324.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000504896.1_Missense_Mutation_p.Q400P			Q9HAR2	LPHN3_HUMAN	latrophilin 3	400					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						tccacagggcaggcacatcat	0.363													8	8					0	0	0	0	C	62679530	A	C	62679530	3	2	226	1	0	0	0	0	1	0	0	0	8981	188	7	5	1221	5	LPHN3	4	62679530	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	22575214	62679530	128474746	94	41208	311	2									
LPHN3	23284	broad.mit.edu	37	chr4	62679532	62679532	+	Missense_Mutation	SNP	G	G	T																															gttttgggtccacagggcagGcacatcatggacaagtttca																										TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:62679532G>T	ENST00000512091.1	+	8	1948	c.1201G>T	c.(1201-1203)Gca>Tca	p.A401S	LPHN3_ENST00000514157.1_Missense_Mutation_p.A401S|LPHN3_ENST00000506720.1_Missense_Mutation_p.A469S|LPHN3_ENST00000508946.1_Missense_Mutation_p.A401S|LPHN3_ENST00000508693.1_Missense_Mutation_p.A469S|LPHN3_ENST00000507625.1_Missense_Mutation_p.A469S|LPHN3_ENST00000514996.1_Missense_Mutation_p.A401S|LPHN3_ENST00000514591.1_Missense_Mutation_p.A401S|LPHN3_ENST00000506746.1_Missense_Mutation_p.A469S|LPHN3_ENST00000507164.1_Missense_Mutation_p.A469S|LPHN3_ENST00000545650.1_Missense_Mutation_p.A401S|LPHN3_ENST00000509896.1_Missense_Mutation_p.A469S|LPHN3_ENST00000506700.1_Missense_Mutation_p.A401S|LPHN3_ENST00000511324.1_Missense_Mutation_p.A469S|LPHN3_ENST00000504896.1_Missense_Mutation_p.A401S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	401					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						cacagggcaggcacatcatgg	0.358													8	8					4.68919e-08	5.55489e-08	1	0	T	62679532	G	T	62679532	3	4	226	1	0	0	0	0	1	0	0	0	8981	1203	42	4	1223	4	LPHN3	4	62679532	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	2	62679532	128474744	95	41209	311	2									
HERC3	8916	broad.mit.edu	37	chr4	89607922	89607922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagattaccccggggaggAtgtggaggagactttctgcc	8	11	14	8	1	1	2	0	0	1	2	1	6	1	5	3	5	2	0	3	5	2	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:89607922A>G	ENST00000402738.1	+	22	2782	c.2543A>G	c.(2542-2544)gAt>gGt	p.D848G	HERC3_ENST00000264345.3_Missense_Mutation_p.D848G|HERC3_ENST00000543130.1_Missense_Mutation_p.D292G	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	848					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CCCGGGGAGGATGTGGAGGAG	0.423													14	17					0	0	0	0	G	89607922	A	G	89607922	3	3	226	1	0	0	0	0	1	0	0	0	7109	333	12	5	2621	5	HERC3	4	89607922	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	26928390	89607922	101546354	96	41210											
GRID2	2895	broad.mit.edu	37	chr4	94006249	94006249	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgccatgcatatcccccaCctcttcattcagcgctcaac	9	9	5	18	2	4	0	3	0	1	0	5	1	5	0	4	0	3	2	4	0	2	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:94006249C>A	ENST00000282020.4	+	3	606	c.348C>A	c.(346-348)caC>caA	p.H116Q	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	116					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATATCCCCCACCTCTTCATTC	0.562													21	19					5.35356e-11	6.69195e-11	1	0	A	94006249	C	A	94006249	3	1	226	1	0	0	0	0	1	0	0	0	6822	506	18	4	358	4	GRID2	4	94006249	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	4398327	94006249	97148027	97	41211											
NDST4	64579	broad.mit.edu	37	chr4	115858477	115858477	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctctgtgctcaccatGatgctattgtgaatgaagcc	8	13	10	10	0	2	3	1	3	1	0	3	3	2	3	2	1	3	3	2	1	3	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:115858477G>T	ENST00000264363.2	-	5	2082	c.1404C>A	c.(1402-1404)atC>atA	p.I468I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	468	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGCTCACCATGATGCTATTGT	0.448													36	11					4.62619e-21	6.38381e-21	1	0	T	115858477	G	T	115858477	2	4	226	1	0	0	0	0	0	0	0	1	10328	1280	45	2		2	NDST4	4	115858477	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	21852228	115858477	75295799	98	41212											
NR3C2	4306	broad.mit.edu	37	chr4	149356316	149356316	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacttcttctagacgacAggtcgccgtgtgatttccat	8	13	8	12	3	3	2	1	1	2	1	5	3	4	2	2	1	0	0	2	1	1	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:149356316A>T	ENST00000355292.3	-	2	2059	c.1697T>A	c.(1696-1698)cTg>cAg	p.L566Q	NR3C2_ENST00000511528.1_Missense_Mutation_p.L566Q|NR3C2_ENST00000342437.4_Missense_Mutation_p.L566Q|NR3C2_ENST00000344721.4_Missense_Mutation_p.L566Q|NR3C2_ENST00000512865.1_Missense_Mutation_p.L566Q|NR3C2_ENST00000358102.3_Missense_Mutation_p.L566Q			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	566	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TCTAGACGACAGGTCGCCGTG	0.413													22	53					0	0	0	0	T	149356316	A	T	149356316	3	4	226	1	0	0	0	0	1	0	0	0	10702	188	7	5	1289	5	NR3C2	4	149356316	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	33497839	149356316	41797960	99	41213											
DNAH5	1767	broad.mit.edu	37	chr5	13859686	13859686	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtactgcacccatttttGaatctgggctttgaatggca	10	13	10	8	0	1	2	0	2	1	0	1	2	1	2	1	3	2	4	1	3	4	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:13859686G>A	ENST00000265104.4	-	30	4929	c.4825C>T	c.(4825-4827)Caa>Taa	p.Q1609*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1609	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCCATTTTTGAATCTGGGCT	0.378									Kartagener syndrome				42	124					0	0	0	0	A	13859686	G	A	13859686	4	1	226	1	0	0	0	0	0	1	0	0	4641	1299	45	2	9249	2	DNAH5	5	13859686	Nonsense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08		13859686	167055574	100	41214											
CDH18	1016	broad.mit.edu	37	chr5	19839081	19839081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggacagatgcaagatgtGctagtaattttcattgtaag	13	13	10	5	0	1	2	1	0	0	2	1	3	1	3	0	1	2	4	0	1	4	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:19839081G>A	ENST00000507958.1	-	5	1005	c.15C>T	c.(13-15)agC>agT	p.S5S	CDH18_ENST00000274170.4_Silent_p.S5S|CDH18_ENST00000382275.1_Silent_p.S5S|CDH18_ENST00000511273.1_Silent_p.S5S|CDH18_ENST00000502796.1_Silent_p.S5S|CDH18_ENST00000506372.1_Silent_p.S5S			Q13634	CAD18_HUMAN	cadherin 18, type 2	5					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)					TGCAAGATGTGCTAGTAATTT	0.433													16	12					0	0	0	0	A	19839081	G	A	19839081	2	1	226	1	0	0	0	0	0	0	0	1	3132	1310	46	4		4	CDH18	5	19839081	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	5979395	19839081	161076179	101	41215											
PRDM9	56979	broad.mit.edu	37	chr5	23522455	23522455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagatgtatagcctgcGagaaagaaagggtcatgcat	17	7	12	5	1	1	4	1	0	0	4	1	5	1	4	1	1	3	2	1	1	6	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:23522455G>T	ENST00000296682.3	+	7	733	c.551G>T	c.(550-552)cGa>cTa	p.R184L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TATAGCCTGCGAGAAAGAAAG	0.458										HNSCC(3;0.000094)			45	38					5.2432e-18	7.10786e-18	1	0	T	23522455	G	T	23522455	3	4	226	1	0	0	0	0	1	0	0	0	12543	1058	37	3	573	3	PRDM9	5	23522455	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	3683374	23522455	157392805	102	41216											
PRDM9	56979	broad.mit.edu	37	chr5	23527462	23527462	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtctgcagggagtgtgggcgGggctttcgcgataagtcaca	7	9	17	8	3	2	0	1	0	1	0	3	2	2	1	0	4	1	2	0	4	1	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:23527462G>T	ENST00000296682.3	+	11	2447	c.2265G>T	c.(2263-2265)cgG>cgT	p.R755R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	755					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTGTGGGCGGGGCTTTCGCG	0.582										HNSCC(3;0.000094)			35	36					2.40579e-17	3.23857e-17	1	0	T	23527462	G	T	23527462	2	4	226	1	0	0	0	0	0	0	0	1	12543	1219	43	4		4	PRDM9	5	23527462	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	5007	23527462	157387798	103	41217											
CDH10	1008	broad.mit.edu	37	chr5	24488121	24488121	+	Frame_Shift_Del	DEL	C	C	-																															ctgcaggattcctcagggtgCcgatatcaaaggcctgggtg																										TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr5:24488121delC	ENST00000264463.4	-	12	2525	c.2018delG	c.(2017-2019)gcfs	p.G673fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	673					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTCAGGGTGCCGATATCAAA	0.468										HNSCC(23;0.051)			18	32	---	---	---	---					-	24488121	C	-	24488121	7	5	226	1	0	1	0	1	0	0	0	0	3125	739	26	0	352	0	CDH10	5	24488121	Frame_Shift_Del	DEL	C	TCGA-CV-5432-01A-02D-1683-08	960659	24488121	156427139	104	41218											
ADAMTS12	81792	broad.mit.edu	37	chr5	33616118	33616118	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagtttccagctccctCaatttccatcactcttatgt	9	14	5	13	0	3	0	2	0	1	0	6	1	6	1	3	1	1	2	3	1	3	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:33616118C>A	ENST00000504830.1	-	15	2538	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E650*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	735	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCAGCTCCCTCAATTTCCATC	0.448										HNSCC(64;0.19)			14	44					4.3838e-07	5.05318e-07	1	0	A	33616118	C	A	33616118	4	1	226	1	0	0	0	0	0	1	0	0	257	835	29	2	2621	2	ADAMTS12	5	33616118	Nonsense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	9127997	33616118	147299142	105	41219											
MEF2C	4208	broad.mit.edu	37	chr5	88047672	88047672	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacatccttatgaggacatAcctgtgttacctgcacttgg	9	14	8	10	0	0	1	0	1	0	0	1	2	1	2	3	2	4	2	3	2	4	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:88047672A>T	ENST00000504921.2	-	5	1262		c.e5+1		MEF2C_ENST00000437473.2_Splice_Site|MEF2C_ENST00000503554.1_Splice_Site|MEF2C_ENST00000340208.5_Splice_Site|MEF2C_ENST00000506554.1_Splice_Site|MEF2C_ENST00000514015.1_Splice_Site|MEF2C_ENST00000539796.1_Splice_Site|MEF2C_ENST00000514028.1_Splice_Site|MEF2C_ENST00000510942.1_Splice_Site|MEF2C_ENST00000508569.1_Splice_Site|MEF2C_ENST00000424173.2_Splice_Site			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C						apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATGAGGACATACCTGTGTTAC	0.453										HNSCC(66;0.2)			43	105					0	0	0	0	T	88047672	A	T	88047672	5	4	226	1	0	0	0	0	0	0	1	0	9526	405	14	5	858	5	MEF2C	5	88047672	Splice_Site	SNP	A	TCGA-CV-5432-01A-02D-1683-08	54431554	88047672	92867588	106	41220											
KCNN2	3781	broad.mit.edu	37	chr5	113698644	113698644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccgctgccgccgccgccGctgtttcgtcctcagccccc	2	7	10	22	6	1	0	1	0	0	0	3	0	2	0	8	0	3	3	8	0	0	1	rs34895620		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:113698644G>T	ENST00000512097.3	+	2	1190	c.172G>T	c.(172-174)Gct>Tct	p.A58S	KCNN2_ENST00000264773.3_Missense_Mutation_p.A58S			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	58	Poly-Ala.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CGCCGCCGCCGCTGTTTCGTC	0.697													4	0					3.09899e-07	3.60456e-07	1	0	T	113698644	G	T	113698644	3	4	226	1	0	0	0	0	1	0	0	0	8132	1087	38	3	174	3	KCNN2	5	113698644	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	25650972	113698644	67216616	107	41221											
PCDHA2	56146	broad.mit.edu	37	chr5	140176015	140176015	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgcgcaggagaacgcgcTggtgtcctactcgctggtgg	6	7	17	11	5	0	1	0	0	0	1	2	3	1	2	1	5	2	3	1	5	2	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:140176015T>A	ENST00000526136.1	+	1	1466	c.1466T>A	c.(1465-1467)cTg>cAg	p.L489Q	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.L489Q|PCDHA2_ENST00000378132.1_Missense_Mutation_p.L489Q	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACGCGCTGGTGTCCTAC	0.657													23	42					0	0	0	0	A	140176015	T	A	140176015	3	1	226	1	0	0	0	0	1	0	0	0	11595	1580	55	5	1468	5	PCDHA2	5	140176015	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	26477371	140176015	40739245	108	41222											
PCDHA13	56136	broad.mit.edu	37	chr5	140262396	140262396	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgattatttcactttggaCgcacaaaacagtcttgagca	14	11	7	9	2	2	1	1	1	1	0	2	3	2	2	0	1	3	2	0	1	4	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:140262396C>T	ENST00000289272.2	+	1	543	c.543C>T	c.(541-543)gaC>gaT	p.D181D	PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.D181D|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTTTGGACGCACAAAACA	0.433													7	42					0	0	0	0	T	140262396	C	T	140262396	2	4	226	1	0	0	0	0	0	0	0	1	11594	535	19	1		1	PCDHA13	5	140262396	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	86381	140262396	40652864	109	41223											
FAM65B	9750	broad.mit.edu	37	chr6	24861201	24861201	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaacaaggaaaataatacCtttcatcttgatggagaatt	17	12	6	6	0	2	2	1	1	1	1	2	4	2	3	1	2	2	0	1	2	8	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:24861201C>A	ENST00000259698.4	-	8	803	c.628_splice	c.e8+1	p.G210_splice	FAM65B_ENST00000538035.1_Splice_Site_p.G239_splice|FAM65B_ENST00000540914.1_Splice_Site_p.G210_splice|FAM65B_ENST00000378023.4_Splice_Site_p.G210_splice|FAM65B_ENST00000510784.2_Splice_Site_p.G244_splice	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	210					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AAAATAATACCTTTCATCTTG	0.428													6	3					0.00198382	0.00205868	1	0	A	24861201	C	A	24861201	5	1	226	1	0	0	0	0	0	0	1	0	5646	695	24	4	2652	4	FAM65B	6	24861201	Splice_Site	SNP	C	TCGA-CV-5432-01A-02D-1683-08		24861201	146253866	110	41224											
HIST1H4G	8369	broad.mit.edu	37	chr6	26246948	26246948	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtttgagcacgtagaccacGgccatggcggtgaccgtctt	7	9	13	12	5	1	3	0	2	1	1	1	3	1	3	3	3	1	3	3	3	1	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:26246948G>T	ENST00000244537.4	-	1	311	c.258C>A	c.(256-258)gcC>gcA	p.A86A		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	86					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGTAGACCACGGCCATGGCGG	0.567													19	8					4.35082e-09	5.28411e-09	1	0	T	26246948	G	T	26246948	2	4	226	1	0	0	0	0	0	0	0	1	7221	1103	39	3		3	HIST1H4G	6	26246948	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1385747	26246948	144868119	111	41225											
DST	667	broad.mit.edu	37	chr6	56341031	56341031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagtaagtgtagtttcagcCcattgcaaccaagccagcaa	13	9	8	11	0	2	0	2	0	0	0	2	0	2	0	3	0	5	5	3	0	5	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:56341031C>A	ENST00000370754.5	-	92	21686	c.21687G>T	c.(21685-21687)tgG>tgT	p.W7229C	DST_ENST00000370769.4_Missense_Mutation_p.W7051C|DST_ENST00000446842.2_Missense_Mutation_p.W6725C|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.W6940C|DST_ENST00000244364.6_Missense_Mutation_p.W4637C|DST_ENST00000370788.2_Missense_Mutation_p.W4854C|DST_ENST00000421834.2_Missense_Mutation_p.W4963C			Q03001	DYST_HUMAN	dystonin	7049	EF-hand 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGTTTCAGCCCATTGCAACC	0.448													10	8					0.000442599	0.000466851	1	0	A	56341031	C	A	56341031	3	1	226	1	0	0	0	0	1	0	0	0	4819	624	22	4	1652	4	DST	6	56341031	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	30094083	56341031	114774036	112	41226											
PHF3	23469	broad.mit.edu	37	chr6	64395424	64395424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctttgagtgataagtcaCacgctcatcctggttgcttg	8	15	9	9	1	3	2	2	2	1	0	4	2	4	2	1	1	1	3	1	1	1	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:64395424C>A	ENST00000262043.3	+	4	2141	c.1801C>A	c.(1801-1803)Cac>Aac	p.H601N	PHF3_ENST00000509330.1_Missense_Mutation_p.H601N|PHF3_ENST00000393387.1_Missense_Mutation_p.H601N			Q92576	PHF3_HUMAN	PHD finger protein 3	601					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGATAAGTCACACGCTCATCC	0.398													11	159					2.27111e-07	2.64963e-07	1	0	A	64395424	C	A	64395424	3	1	226	1	0	0	0	0	1	0	0	0	11908	478	17	4	1811	4	PHF3	6	64395424	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	8054393	64395424	106719643	113	41227											
SMAP1	60682	broad.mit.edu	37	chr6	71570005	71570005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtctggaagctcatcaGgtcagactctcagcacacaa	12	8	10	11	0	5	1	4	0	2	1	6	3	5	2	0	3	2	2	0	3	2	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:71570005G>T	ENST00000370455.3	+	11	1620	c.1372G>T	c.(1372-1374)Ggt>Tgt	p.G458C	B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000370452.3_3'UTR|SMAP1_ENST00000316999.5_Missense_Mutation_p.G431C	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	458					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						AAGCTCATCAGGTCAGACTCT	0.498													8	60					0.000442599	0.000466851	1	0	T	71570005	G	T	71570005	3	4	226	1	0	0	0	0	1	0	0	0	14854	1000	35	4	1414	4	SMAP1	6	71570005	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	7174581	71570005	99545062	114	41228											
PHIP	55023	broad.mit.edu	37	chr6	79711634	79711634	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaggaagttactcccaTctgagggatgagttgctcct	9	11	11	10	0	1	3	0	3	1	0	3	5	3	5	3	2	2	3	3	2	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:79711634T>A	ENST00000275034.4	-	17	2028	c.1861A>T	c.(1861-1863)Atg>Ttg	p.M621L		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	621					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GTTACTCCCATCTGAGGGATG	0.398													22	13					0	0	0	0	A	79711634	T	A	79711634	3	1	226	1	0	0	0	0	1	0	0	0	11914	1435	50	5	3700	5	PHIP	6	79711634	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	8141629	79711634	91403433	115	41229											
AKIRIN2	55122	broad.mit.edu	37	chr6	88387536	88387536	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaataaacacacctcatacCtgcaagttttgtgttcaata	14	13	4	10	0	2	0	2	0	0	0	2	0	2	0	2	0	3	3	2	0	7	7			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:88387536C>A	ENST00000257787.5	-	3	1053	c.529_splice	c.e3+1	p.E177_splice		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	177					innate immune response|transcription, DNA-dependent	transcriptional repressor complex				large_intestine(4)	4						CACCTCATACCTGCAAGTTTT	0.378													18	29					3.51602e-12	4.45285e-12	1	0	A	88387536	C	A	88387536	5	1	226	1	0	0	0	0	0	0	1	0	462	695	24	4	94	4	AKIRIN2	6	88387536	Splice_Site	SNP	C	TCGA-CV-5432-01A-02D-1683-08	8675902	88387536	82727531	116	41230											
ASCC3	10973	broad.mit.edu	37	chr6	100964151	100964151	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagttcaggaagggactCgatggaggtccgacccctag	10	7	14	10	2	2	0	2	0	0	0	4	6	3	3	3	4	0	1	3	4	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:100964151C>A	ENST00000369162.2	-	39	6324	c.5980G>T	c.(5980-5982)Gag>Tag	p.E1994*		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1994					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E1994*(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGAAGGGACTCGATGGAGGTC	0.453													43	33					5.44703e-19	7.41027e-19	1	0	A	100964151	C	A	100964151	4	1	226	1	0	0	0	0	0	1	0	0	1037	893	31	3	644	3	ASCC3	6	100964151	Nonsense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	12576615	100964151	70150916	117	41231											
SLC35F1	222553	broad.mit.edu	37	chr6	118596758	118596758	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattggtctctttggagcAtttttcagtggaattcaatt	9	18	9	5	0	3	1	2	1	1	0	4	3	3	3	0	3	1	1	0	3	2	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:118596758A>G	ENST00000360388.4	+	5	975	c.774A>G	c.(772-774)gcA>gcG	p.A258A		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	258					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTTTGGAGCATTTTTCAGTG	0.383													10	50					0	0	0	0	G	118596758	A	G	118596758	2	3	226	1	0	0	0	0	0	0	0	1	14676	204	8	5		5	SLC35F1	6	118596758	Silent	SNP	A	TCGA-CV-5432-01A-02D-1683-08	17632607	118596758	52518309	118	41232											
LPA	4018	broad.mit.edu	37	chr6	160978515	160978515	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcattgtgtcagattgcAgtactcccacctcacacacg	10	10	8	13	1	2	2	2	1	0	1	3	2	3	2	2	0	3	3	2	0	1	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:160978515A>G	ENST00000447678.1	-	30	4840	c.4720T>C	c.(4720-4722)Tgc>Cgc	p.C1574R	LPA_ENST00000316300.5_Missense_Mutation_p.C1574R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4082	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTCAGATTGCAGTACTCCCAC	0.493													39	34					0	0	0	0	G	160978515	A	G	160978515	3	3	226	1	0	0	0	0	1	0	0	0	8967	188	7	5	1446	5	LPA	6	160978515	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	42381757	160978515	10136552	119	41233											
C7orf50	84310	broad.mit.edu	37	chr7	1040142	1040142	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgcagcaggagccacgtCtgcctcgtcttctgaaacct	8	10	10	13	2	3	1	0	1	3	0	4	2	3	2	3	1	5	2	3	1	1	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:1040142C>T	ENST00000397098.3	-	4	1295	c.369G>A	c.(367-369)caG>caA	p.Q123Q	C7orf50_ENST00000397100.2_Silent_p.Q123Q|C7orf50_ENST00000357429.6_Silent_p.Q123Q|C7orf50_ENST00000488073.1_5'UTR			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	123							protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		GGAGCCACGTCTGCCTCGTCT	0.597													6	3					0	0	0	0	T	1040142	C	T	1040142	2	4	226	1	0	0	0	0	0	0	0	1	2422	912	32	2		2	C7orf50	7	1040142	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08		1040142	158098521	120	41234											
ITGB8	3696	broad.mit.edu	37	chr7	20403258	20403258	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttttctccttcattgcAgaagacaatagatgtgcatc	11	14	7	9	0	2	3	1	0	1	3	4	3	2	3	1	0	2	3	1	0	3	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:20403258A>T	ENST00000222573.3	+	2	811		c.e2-1		ITGB8_ENST00000537992.1_Splice_Site	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CCTTCATTGCAGAAGACAATA	0.368													12	5					0	0	0	0	T	20403258	A	T	20403258	5	4	226	1	0	0	0	0	0	0	1	0	7954	202	7	5	132	5	ITGB8	7	20403258	Splice_Site	SNP	A	TCGA-CV-5432-01A-02D-1683-08	19363116	20403258	138735405	121	41235											
AVL9	23080	broad.mit.edu	37	chr7	32598671	32598671	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccactgctgatgtttcAcataccaacttgggaactat	11	12	7	11	0	1	1	1	1	0	0	2	2	2	2	2	1	4	3	2	1	4	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:32598671A>T	ENST00000318709.4	+	10	1031	c.810A>T	c.(808-810)tcA>tcT	p.S270S	AVL9_ENST00000409301.1_Silent_p.S270S|AVL9_ENST00000404479.1_Silent_p.S270S	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	270						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTGATGTTTCACATACCAACT	0.463													18	31					0	0	0	0	T	32598671	A	T	32598671	2	4	226	1	0	0	0	0	0	0	0	1	1232	146	6	5		5	AVL9	7	32598671	Silent	SNP	A	TCGA-CV-5432-01A-02D-1683-08	12195413	32598671	126539992	122	41236											
SUN3	256979	broad.mit.edu	37	chr7	48035729	48035729	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttctgaggtcccagcttCaatgatggaggctcctaaaa	11	11	9	10	0	2	2	1	2	1	0	4	3	4	3	2	3	1	2	2	3	3	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:48035729C>G	ENST00000453192.2	-	8	799	c.556G>C	c.(556-558)Gaa>Caa	p.E186Q	SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000297325.4_Missense_Mutation_p.E198Q|SUN3_ENST00000412142.1_Missense_Mutation_p.E98Q|SUN3_ENST00000395572.2_Missense_Mutation_p.E198Q			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	198						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCCCAGCTTCAATGATGGAG	0.303													14	78					0	0	0	0	G	48035729	C	G	48035729	3	3	226	1	0	0	0	0	1	0	0	0	15483	835	29	2	497	2	SUN3	7	48035729	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	15437058	48035729	111102934	123	41237											
AUTS2	26053	broad.mit.edu	37	chr7	70255697	70255697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaagactacgagcacacGcggctccactccgtgcaccc	11	4	10	16	4	0	2	0	0	0	2	2	4	2	2	3	1	3	3	3	1	2	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:70255697G>A	ENST00000342771.4	+	19	3816	c.3495G>A	c.(3493-3495)acG>acA	p.T1165T	AUTS2_ENST00000406775.2_Silent_p.T1141T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1165	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACGAGCACACGCGGCTCCACT	0.692													14	29					0	0	0	0	A	70255697	G	A	70255697	2	1	226	1	0	0	0	0	0	0	0	1	1229	1074	38	1		1	AUTS2	7	70255697	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	22219968	70255697	88882966	124	41238											
HGF	3082	broad.mit.edu	37	chr7	81335729	81335729	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaattccaagccaagcttcaTaatctttcaagtctctgttt	11	15	5	10	0	4	0	2	0	2	0	6	1	5	0	2	0	2	2	2	0	5	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:81335729T>A	ENST00000222390.5	-	15	1857	c.1631A>T	c.(1630-1632)tAt>tTt	p.Y544F	HGF_ENST00000457544.2_Missense_Mutation_p.Y539F	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	544	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCAAGCTTCATAATCTTTCAA	0.338													26	76					0	0	0	0	A	81335729	T	A	81335729	3	1	226	1	0	0	0	0	1	0	0	0	7135	1406	49	5	571	5	HGF	7	81335729	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	11080032	81335729	77802934	125	41239											
PCLO	27445	broad.mit.edu	37	chr7	82580192	82580192	+	Frame_Shift_Del	DEL	C	C	-																															cctttgaatttcctgacgttCccactccaattcctcagcaa																										TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:82580192delC	ENST00000423517.2	-	6	10049	c.9712delG	c.(9712-9714)aafs	p.E3238fs	PCLO_ENST00000333891.8_Frame_Shift_Del_p.E3238fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3169	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCTGACGTTCCCACTCCAAT	0.458													41	59	---	---	---	---					-	82580192	C	-	82580192	7	5	226	1	0	1	0	1	0	0	0	0	11654	864	30	0	5813	0	PCLO	7	82580192	Frame_Shift_Del	DEL	C	TCGA-CV-5432-01A-02D-1683-08	1244463	82580192	76558471	126	41240											
CALCR	799	broad.mit.edu	37	chr7	93108690	93108690	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttggtatgcgggtaactGctgcattcggtcatagcatt	7	14	11	9	2	1	0	1	0	0	0	3	0	2	0	1	3	5	5	1	3	3	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:93108690G>A	ENST00000359558.2	-	5	534	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	CALCR_ENST00000360249.4_Nonsense_Mutation_p.Q61*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.Q61*|CALCR_ENST00000394441.1_Nonsense_Mutation_p.Q61*|CALCR_ENST00000421592.1_Nonsense_Mutation_p.Q61*	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	61					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCGGGTAACTGCTGCATTCGG	0.378													64	149					0	0	0	0	A	93108690	G	A	93108690	4	1	226	1	0	0	0	0	0	1	0	0	2604	1328	46	4	1339	4	CALCR	7	93108690	Nonsense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	10528498	93108690	66029973	127	41241											
MUC17	140453	broad.mit.edu	37	chr7	100681637	100681637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acactcctttcactacttctActgaagccagttcacctcct	9	13	3	16	0	3	1	2	1	1	0	5	1	5	1	4	0	3	1	4	0	3	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:100681637A>G	ENST00000306151.4	+	3	7004	c.6940A>G	c.(6940-6942)Act>Gct	p.T2314A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2314	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTACTTCTACTGAAGCCAG	0.483													115	143					0	0	0	0	G	100681637	A	G	100681637	3	3	226	1	0	0	0	0	1	0	0	0	10044	391	14	5	6950	5	MUC17	7	100681637	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	7572947	100681637	58457026	128	41242											
KCND2	3751	broad.mit.edu	37	chr7	119915648	119915648	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtacacactgaagagttgtgCctcagaattgggcttcttgc	9	12	11	9	0	2	3	1	1	1	2	2	3	2	3	1	1	3	3	1	1	3	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:119915648C>G	ENST00000331113.4	+	1	1927	c.962C>G	c.(961-963)gCc>gGc	p.A321G		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	321					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AAGAGTTGTGCCTCAGAATTG	0.512													23	35					0	0	0	0	G	119915648	C	G	119915648	3	3	226	1	0	0	0	0	1	0	0	0	8072	739	26	4	964	4	KCND2	7	119915648	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	19234011	119915648	39223015	129	41243											
PTPRZ1	5803	broad.mit.edu	37	chr7	121671535	121671535	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttattcacgtagatgatgtCggagcaattccaataaagca	14	12	8	7	2	1	2	1	1	0	1	3	3	2	3	1	1	2	3	1	1	6	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:121671535C>T	ENST00000393386.2	+	15	5499	c.5088C>T	c.(5086-5088)gtC>gtT	p.V1696V	PTPRZ1_ENST00000449182.1_Silent_p.V836V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1696					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGATGATGTCGGAGCAATTC	0.313													21	35					0	0	0	0	T	121671535	C	T	121671535	2	4	226	1	0	0	0	0	0	0	0	1	12896	871	31	1		1	PTPRZ1	7	121671535	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	1755887	121671535	37467128	130	41244											
WASL	8976	broad.mit.edu	37	chr7	123332620	123332621	+	Frame_Shift_Ins	INS	-	-	GGGG																															gaggaggtggaggtggaggcINSggtgggggtggtgccactgg																								rs138161611	by1000genomes	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:123332620_123332621insGGGG	ENST00000223023.4	-	9	1459_1460	c.1127_1128insCCCC	c.(1126-1128)cccfs	p.P376fs		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	376	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGTGGAGGCGGTGGGGGTGG	0.644													13	115	---	---	---	---					GGGG	123332621	-	GGGG	123332620	7	5	226	1	0	1	1	0	0	0	0	0	17352	755	27	0	401	0	WASL	7	123332620	Frame_Shift_Ins	INS	-	TCGA-CV-5432-01A-02D-1683-08	1661085	123332620	35806043	131	41245											
GPR37	2861	broad.mit.edu	37	chr7	124387345	124387345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttggtggcagcacggaagCggtctatgcacagagcacat	10	7	14	10	3	1	1	0	0	1	1	1	2	1	2	0	4	4	5	0	4	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:124387345C>T	ENST00000303921.2	-	2	1726	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	359						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGCACGGAAGCGGTCTATGCA	0.488													6	38					0	0	0	0	T	124387345	C	T	124387345	3	4	226	1	0	0	0	0	1	0	0	0	6740	768	27	1	769	1	GPR37	7	124387345	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	1054725	124387345	34751318	132	41246											
ZYX	7791	broad.mit.edu	37	chr7	143079743	143079743	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actctctgtcctcactgctgGatgacatgaccaagaatgat	11	11	8	11	0	2	4	1	3	1	1	4	5	3	5	2	1	1	1	2	1	2	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:143079743G>A	ENST00000392910.2	+	0	443				ZYX_ENST00000322764.5_Missense_Mutation_p.D156N|ZYX_ENST00000449423.2_Intron|ZYX_ENST00000477373.1_Intron			Q15942	ZYX_HUMAN	zyxin						cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CTCACTGCTGGATGACATGAC	0.527													104	147					0	0	0	0	A	143079743	G	A	143079743	1	1	226	1	0	0	0	0	0	0	0	0	18345	1174	41	2		2	ZYX	7	143079743	Translation_Start_Site	SNP	G	TCGA-CV-5432-01A-02D-1683-08	18692398	143079743	16058920	133	41247											
OR2A2	442361	broad.mit.edu	37	chr7	143806846	143806846	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctaagcttcacacaccCatgtacttcttcctctcaca	10	12	3	16	0	4	0	2	0	3	0	6	1	5	0	2	0	2	2	2	0	2	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:143806846C>A	ENST00000408979.2	+	1	240	c.171C>A	c.(169-171)ccC>ccA	p.P57P		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TTCACACACCCATGTACTTCT	0.468													104	130					4.98208e-43	7.2109e-43	1	0	A	143806846	C	A	143806846	2	1	226	1	0	0	0	0	0	0	0	1	11048	581	21	4		4	OR2A2	7	143806846	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	727103	143806846	15331817	134	41248											
MYOM2	9172	broad.mit.edu	37	chr8	2056622	2056622	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgaaataaagaaccccaGtaagtaagcctccagccctt	16	7	6	12	0	0	2	0	1	0	1	1	2	1	2	5	0	3	2	5	0	7	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:2056622G>A	ENST00000262113.4	+	24	3184		c.e24+1		MYOM2_ENST00000523438.1_Splice_Site	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGAACCCCAGTAAGTAAGCC	0.473													19	36					0	0	0	0	A	2056622	G	A	2056622	5	1	226	1	0	0	0	0	0	0	1	0	10162	1043	36	4	3134	4	MYOM2	8	2056622	Splice_Site	SNP	G	TCGA-CV-5432-01A-02D-1683-08		2056622	144307400	135	41249											
MFHAS1	9258	broad.mit.edu	37	chr8	8750004	8750004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcagtgagctggttgtgatCcacgtccagggtgcgcaggc	6	8	17	10	2	0	2	0	2	0	0	2	2	2	2	2	4	2	4	2	4	0	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:8750004C>G	ENST00000276282.6	-	1	1151	c.565G>C	c.(565-567)Gat>Cat	p.D189H		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	189								p.D189Y(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGGTTGTGATCCACGTCCAGG	0.677													6	7					0	0	0	0	G	8750004	C	G	8750004	3	3	226	1	0	0	0	0	1	0	0	0	9590	855	30	2	2605	2	MFHAS1	8	8750004	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	6693382	8750004	137614018	136	41250											
XPO7	23039	broad.mit.edu	37	chr8	21848388	21848388	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagacatgcggtgtcggactAccttctacacagcacttggg	9	9	11	12	2	1	1	0	0	1	1	2	2	1	2	1	3	4	1	1	3	2	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:21848388A>G	ENST00000434536.1	+	18	2128	c.2026A>G	c.(2026-2028)Acc>Gcc	p.T676A	XPO7_ENST00000252512.9_Missense_Mutation_p.T667A|XPO7_ENST00000433566.4_Missense_Mutation_p.T668A			Q9UIA9	XPO7_HUMAN	exportin 7	667					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GTGTCGGACTACCTTCTACAC	0.403													34	118					0	0	0	0	G	21848388	A	G	21848388	3	3	226	1	0	0	0	0	1	0	0	0	17545	391	14	5	2121	5	XPO7	8	21848388	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	13098384	21848388	124515634	137	41251											
PNMA2	10687	broad.mit.edu	37	chr8	26365820	26365820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggctgaggcgcatgtGccattgcctgtcccaacaaa	9	7	13	12	1	0	1	0	1	0	0	1	1	1	1	3	3	3	3	3	3	2	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:26365820G>A	ENST00000522362.2	-	3	1346	c.452C>T	c.(451-453)gCa>gTa	p.A151V		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	151					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aggcgcatgtgccattgcctg	0.587													10	36					0	0	0	0	A	26365820	G	A	26365820	3	1	226	1	0	0	0	0	1	0	0	0	12226	1319	46	4	646	4	PNMA2	8	26365820	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	4517432	26365820	119998202	138	41252											
HOOK3	84376	broad.mit.edu	37	chr8	42823227	42823227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagaagctagaagaccttgGtgatttaaggcggcaggtta	14	9	13	5	1	0	4	0	1	0	3	0	4	0	4	1	4	1	3	1	4	6	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:42823227G>A	ENST00000307602.4	+	11	1192	c.992G>A	c.(991-993)gGt>gAt	p.G331D		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	331					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GAAGACCTTGGTGATTTAAGG	0.358			T	RET	papillary thyroid								19	40					0	0	0	0	A	42823227	G	A	42823227	3	1	226	1	0	0	0	0	1	0	0	0	7334	1261	44	4	1034	4	HOOK3	8	42823227	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	16457407	42823227	103540795	139	41253											
PRKDC	5591	broad.mit.edu	37	chr8	48715931	48715931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagccctgggaccggctccgGcagtggctcaggcggcagta	6	5	16	14	3	1	0	1	0	0	0	2	1	2	1	3	6	1	5	3	6	1	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:48715931G>A	ENST00000314191.2	-	71	9911	c.9855C>T	c.(9853-9855)tgC>tgT	p.C3285C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.C3285C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3286	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACCGGCTCCGGCAGTGGCTCA	0.512								Non-homologous end-joining					28	79					0	0	0	0	A	48715931	G	A	48715931	2	1	226	1	0	0	0	0	0	0	0	1	12601	1195	42	4		4	PRKDC	8	48715931	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	5892704	48715931	97648091	140	41254											
VCPIP1	80124	broad.mit.edu	37	chr8	67578251	67578251	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgaataatcaccagAgcttctcatgccactgaggg	10	9	12	10	0	2	3	2	2	1	1	3	3	2	3	2	3	2	2	2	3	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:67578251A>T	ENST00000310421.4	-	1	1201	c.943T>A	c.(943-945)Tct>Act	p.S315T		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	315	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TAATCACCAGAGCTTCTCATG	0.468													32	54					0	0	0	0	T	67578251	A	T	67578251	3	4	226	1	0	0	0	0	1	0	0	0	17237	304	11	5	2737	5	VCPIP1	8	67578251	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	18862320	67578251	78785771	141	41255											
ARFGEF1	10565	broad.mit.edu	37	chr8	68184095	68184095	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaacatctcatttgtccTgaaaataggtcctgcattct	13	14	5	9	0	2	1	1	1	2	0	5	1	4	1	2	1	2	1	2	1	6	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:68184095T>A	ENST00000262215.3	-	10	1803	c.1414A>T	c.(1414-1416)Agg>Tgg	p.R472W		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	472					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCATTTGTCCTGAAAATAGGT	0.358													8	41					0	0	0	0	A	68184095	T	A	68184095	3	1	226	1	0	0	0	0	1	0	0	0	854	1579	55	5	4255	5	ARFGEF1	8	68184095	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	605844	68184095	78179927	142	41256											
C8orf34	116328	broad.mit.edu	37	chr8	69552738	69552738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acactgaacatctgttcaagGtgtgccaggtaaaagacata	15	9	9	8	0	2	2	1	1	1	1	2	2	2	2	1	2	2	2	1	2	5	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:69552738G>T	ENST00000337103.4	+	7	2492	c.900G>T	c.(898-900)agG>agT	p.R300S	C8orf34_ENST00000518698.1_Missense_Mutation_p.R411S|C8orf34_ENST00000539993.1_Missense_Mutation_p.R325S|C8orf34_ENST00000325233.3_Missense_Mutation_p.R69S			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	325					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCTGTTCAAGGTGTGCCAGGT	0.388													24	45					7.87624e-14	1.02444e-13	1	0	T	69552738	G	T	69552738	3	4	226	1	0	0	0	0	1	0	0	0	2446	1252	44	4	926	4	C8orf34	8	69552738	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1368643	69552738	76811284	143	41257											
KCNB2	9312	broad.mit.edu	37	chr8	73848742	73848742	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgaccactgttggctaTggtgacatttaccctaaaac	12	11	7	11	0	0	2	0	2	0	0	0	2	0	2	3	2	2	2	3	2	4	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:73848742T>C	ENST00000523207.1	+	3	1740	c.1152T>C	c.(1150-1152)taT>taC	p.Y384Y		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	384					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGTTGGCTATGGTGACATTT	0.453													23	101					0	0	0	0	C	73848742	T	C	73848742	2	2	226	1	0	0	0	0	0	0	0	1	8066	1471	51	5		5	KCNB2	8	73848742	Silent	SNP	T	TCGA-CV-5432-01A-02D-1683-08	4296004	73848742	72515280	144	41258											
ZFHX4	79776	broad.mit.edu	37	chr8	77764235	77764235	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccacagtcaccagcacAaattcagatgcaactacagc	15	5	5	16	0	2	1	2	0	0	1	2	1	2	1	3	0	5	2	3	0	3	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:77764235A>T	ENST00000521891.2	+	10	5526	c.5078A>T	c.(5077-5079)cAa>cTa	p.Q1693L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1648L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1667L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1648L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1648	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCACCAGCACAAATTCAGATG	0.423										HNSCC(33;0.089)			17	55					0	0	0	0	T	77764235	A	T	77764235	3	4	226	1	0	0	0	0	1	0	0	0	17730	130	5	5	5112	5	ZFHX4	8	77764235	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	3915493	77764235	68599787	145	41259											
SLC26A7	115111	broad.mit.edu	37	chr8	92365165	92365165	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttattgttgtgggactgaagGgaatgctaatacagttccga	11	13	12	5	1	0	1	0	1	0	0	1	4	1	3	1	2	2	3	1	2	5	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:92365165G>T	ENST00000276609.3	+	11	1494	c.1255G>T	c.(1255-1257)Gga>Tga	p.G419*	SLC26A7_ENST00000309536.2_Nonsense_Mutation_p.G419*|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Nonsense_Mutation_p.G419*	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	419						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GGGACTGAAGGGAATGCTAAT	0.313													34	61					2.19962e-31	3.14816e-31	1	0	T	92365165	G	T	92365165	4	4	226	1	0	0	0	0	0	1	0	0	14610	1233	43	4	1293	4	SLC26A7	8	92365165	Nonsense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	14600930	92365165	53998857	146	41260											
TP53INP1	94241	broad.mit.edu	37	chr8	95952351	95952351	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcactcaagagatgcCggtaaacaggaaaagactga	17	4	11	9	1	1	3	1	1	0	2	1	5	1	4	2	2	3	2	2	2	6	1	rs141483665		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:95952351C>T	ENST00000342697.4	-	3	617	c.210G>A	c.(208-210)ccG>ccA	p.P70P	TP53INP1_ENST00000448464.2_Silent_p.P70P|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Silent_p.P70P	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	70					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					CAAGAGATGCCGGTAAACAGG	0.473													20	20					0	0	0	0	T	95952351	C	T	95952351	2	4	226	1	0	0	0	0	0	0	0	1	16483	639	23	1		1	TP53INP1	8	95952351	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	3587186	95952351	50411671	147	41261											
LRP12	29967	broad.mit.edu	37	chr8	105510273	105510273	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattaccacaacgaaactgAtcacaagcacaatttggttc	15	9	5	12	1	1	1	1	1	0	0	2	2	1	1	2	1	4	2	2	1	5	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:105510273A>T	ENST00000276654.5	-	5	615	c.507T>A	c.(505-507)gaT>gaA	p.D169E	LRP12_ENST00000424843.2_Missense_Mutation_p.D150E	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	169	LDL-receptor class A 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AACGAAACTGATCACAAGCAC	0.363													27	45					0	0	0	0	T	105510273	A	T	105510273	3	4	226	1	0	0	0	0	1	0	0	0	9018	330	12	5	2084	5	LRP12	8	105510273	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	9557922	105510273	40853749	148	41262											
PKHD1L1	93035	broad.mit.edu	37	chr8	110431467	110431467	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgtacattggacacacAtctacaatctcaacattgga	14	11	7	9	0	2	0	1	0	2	0	3	2	2	2	0	2	3	2	0	2	5	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:110431467A>T	ENST00000378402.5	+	22	2606	c.2502A>T	c.(2500-2502)acA>acT	p.T834T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	834					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGACACACATCTACAATCT	0.328										HNSCC(38;0.096)			3	22					0	0	0	0	T	110431467	A	T	110431467	2	4	226	1	0	0	0	0	0	0	0	1	12044	204	8	5		5	PKHD1L1	8	110431467	Silent	SNP	A	TCGA-CV-5432-01A-02D-1683-08	4921194	110431467	35932555	149	41263											
COL22A1	169044	broad.mit.edu	37	chr8	139649040	139649040	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacgttctccttgacttcccTtgaaaggaaaaaaaagaaaa	17	9	6	9	1	1	3	0	2	1	1	3	4	2	4	2	1	0	1	2	1	7	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:139649040T>G	ENST00000303045.6	-	48	3948		c.e48-2		COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGACTTCCCTTGAAAGGAAA	0.363										HNSCC(7;0.00092)			58	132					0	0	0	0	G	139649040	T	G	139649040	5	3	226	1	0	0	0	0	0	0	1	0	3711	1623	56	5	1452	5	COL22A1	8	139649040	Splice_Site	SNP	T	TCGA-CV-5432-01A-02D-1683-08	29217573	139649040	6714982	150	41264											
EPPK1	83481	broad.mit.edu	37	chr8	144940192	144940192	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaagaaataggagcccCgtctcagggtccagggtggc	12	5	15	9	1	1	2	1	0	1	2	3	4	2	3	3	4	1	0	3	4	3	1	rs6982684		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:144940192C>G	ENST00000525985.1	-	2	7301	c.7230G>C	c.(7228-7230)acG>acC	p.T2410T				P58107	EPIPL_HUMAN	epiplakin 1	2410						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATAGGAGCCCCGTCTCAGGGT	0.577													5	26					0	0	0	0	G	144940192	C	G	144940192	2	3	226	1	0	0	0	0	0	0	0	1	5228	639	23	3		3	EPPK1	8	144940192	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	5291152	144940192	1423830	151	41265											
PLEC	5339	broad.mit.edu	37	chr8	144995520	144995520	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggccacgtccacgggcacGcggtggctgtgcacggggtc	5	6	17	13	5	0	0	0	0	0	0	2	0	1	0	2	6	1	3	2	6	1	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:144995520G>A	ENST00000322810.4	-	32	9049	c.8880C>T	c.(8878-8880)cgC>cgT	p.R2960R	PLEC_ENST00000345136.3_Silent_p.R2823R|PLEC_ENST00000354589.3_Silent_p.R2823R|PLEC_ENST00000436759.2_Silent_p.R2850R|PLEC_ENST00000398774.2_Silent_p.R2791R|PLEC_ENST00000356346.3_Silent_p.R2809R|PLEC_ENST00000357649.2_Silent_p.R2827R|PLEC_ENST00000527096.1_Silent_p.R2846R|PLEC_ENST00000354958.2_Silent_p.R2801R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2960	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCACGGGCACGCGGTGGCTGT	0.682													12	101					0	0	0	0	A	144995520	G	A	144995520	2	1	226	1	0	0	0	0	0	0	0	1	12124	1074	38	1		1	PLEC	8	144995520	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	55328	144995520	1368502	152	41266											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			3	5					0	0	0	0	A	21971120	G	A	21971120	4	1	226	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08		21971120	119242311	153	41267											
RGP1	9827	broad.mit.edu	37	chr9	35750932	35750932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccattggctgccagcgtGtcaactcccctatcacttta	8	12	7	14	1	2	1	2	1	0	0	3	1	3	1	4	1	3	1	4	1	3	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:35750932G>T	ENST00000378078.4	+	5	574	c.433G>T	c.(433-435)Gtc>Ttc	p.V145F	RGP1_ENST00000456972.2_Missense_Mutation_p.V185F	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	145										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGCCAGCGTGTCAACTCCCC	0.562													58	18					1.08141e-31	1.55351e-31	1	0	T	35750932	G	T	35750932	3	4	226	1	0	0	0	0	1	0	0	0	13366	1377	48	4	575	4	RGP1	9	35750932	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	13779812	35750932	105462499	154	41268											
ROR2	4920	broad.mit.edu	37	chr9	94499675	94499675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctgcagctcctacctGtgattcggttttcaatctcc	7	14	8	12	1	3	1	1	1	2	0	6	1	4	1	3	2	3	3	3	2	3	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:94499675G>A	ENST00000375708.3	-	5	818	c.620C>T	c.(619-621)aCa>aTa	p.T207I	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.T67I	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	207	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			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						GCTCCTACCTGTGATTCGGTT	0.522													27	37					0	0	0	0	A	94499675	G	A	94499675	3	1	226	1	0	0	0	0	1	0	0	0	13612	1377	48	4	2231	4	ROR2	9	94499675	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	58748743	94499675	46713756	155	41269											
COL15A1	1306	broad.mit.edu	37	chr9	101800963	101800963	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagtccttgatcaataTcacccatggattcatgaatt	11	16	5	9	0	4	2	4	2	0	0	5	3	5	3	2	1	0	0	2	1	3	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:101800963T>A	ENST00000375001.3	+	22	2846	c.2423T>A	c.(2422-2424)aTc>aAc	p.I808N		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	808	Nonhelical region 4 (NC4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTGATCAATATCACCCATGGA	0.478													27	99					0	0	0	0	A	101800963	T	A	101800963	3	1	226	1	0	0	0	0	1	0	0	0	3702	1435	50	5	2509	5	COL15A1	9	101800963	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	7301288	101800963	39412468	156	41270											
TEX10	54881	broad.mit.edu	37	chr9	103109584	103109584	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacttaatatgtttgaaagGtgtgcatcaattataaatgg	14	15	8	4	0	2	1	2	1	0	0	2	1	2	1	0	2	1	2	0	2	7	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:103109584G>A	ENST00000374902.4	-	3	461	c.285C>T	c.(283-285)caC>caT	p.H95H	TEX10_ENST00000537512.1_Silent_p.H30H|TEX10_ENST00000535814.1_Silent_p.H98H	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	95						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTTTGAAAGGTGTGCATCAA	0.388													56	174					0	0	0	0	A	103109584	G	A	103109584	2	1	226	1	0	0	0	0	0	0	0	1	15866	1252	44	4		4	TEX10	9	103109584	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1308621	103109584	38103847	157	41271											
ASTN2	23245	broad.mit.edu	37	chr9	119567939	119567939	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctggaagacttggccttGgttcacatgctgggtccggt	6	12	13	10	1	2	1	1	0	1	1	3	2	3	2	2	5	1	2	2	5	1	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:119567939G>A	ENST00000313400.4	-	13	2468	c.2368C>T	c.(2368-2370)Caa>Taa	p.Q790*	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Nonsense_Mutation_p.Q739*|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.Q786*			O75129	ASTN2_HUMAN	astrotactin 2	790						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTTGGCCTTGGTTCACATGC	0.498													52	65					0	0	0	0	A	119567939	G	A	119567939	4	1	226	1	0	0	0	0	0	1	0	0	1069	1357	47	4	1927	4	ASTN2	9	119567939	Nonsense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	16458355	119567939	21645492	158	41272											
TLR4	7099	broad.mit.edu	37	chr9	120470905	120470905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaatccccgacaacctccCcttctcaaccaagaacctgg	13	6	4	18	1	1	1	1	0	1	1	4	2	3	1	7	1	3	0	7	1	6	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:120470905C>A	ENST00000355622.6	+	2	259	c.158C>A	c.(157-159)cCc>cAc	p.P53H	TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Missense_Mutation_p.P13H	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	53					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GACAACCTCCCCTTCTCAACC	0.433													37	100					1.90571e-15	2.5213e-15	1	0	A	120470905	C	A	120470905	3	1	226	1	0	0	0	0	1	0	0	0	16047	623	22	4	164	4	TLR4	9	120470905	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	902966	120470905	20742526	159	41273											
NUP214	8021	broad.mit.edu	37	chr9	134090708	134090708	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggatgcagccaacaaaaAcccattcagctcggccagtg	13	6	9	13	1	2	0	2	0	0	0	3	1	2	1	3	2	5	2	3	2	3	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:134090708A>T	ENST00000359428.5	+	31	5846	c.5702A>T	c.(5701-5703)aAc>aTc	p.N1901I	NUP214_ENST00000451030.1_Missense_Mutation_p.N1902I|NUP214_ENST00000411637.2_Missense_Mutation_p.N1891I|NUP214_ENST00000483497.2_Missense_Mutation_p.N727I			P35658	NU214_HUMAN	nucleoporin 214kDa	1901	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCCAACAAAAACCCATTCAGC	0.517			T	"DEK, SET, ABL1"	"AML, T-ALL"								40	39					0	0	0	0	T	134090708	A	T	134090708	3	4	226	1	0	0	0	0	1	0	0	0	10833	43	2	5	5824	5	NUP214	9	134090708	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	13619803	134090708	7122723	160	41274											
SNAPC4	6621	broad.mit.edu	37	chr9	139273626	139273626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcttgggccgggggcCggttgaagccagcagggacg	5	6	20	10	3	0	1	0	1	0	0	0	2	0	2	3	6	2	3	3	6	1	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:139273626C>T	ENST00000298532.2	-	21	3021	c.2653G>A	c.(2653-2655)Ggc>Agc	p.G885S		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	885					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGCCGGGGGCCGGTTGAAGCC	0.687													5	5					0	0	0	0	T	139273626	C	T	139273626	3	4	226	1	0	0	0	0	1	0	0	0	14925	652	23	1	1764	1	SNAPC4	9	139273626	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	5182918	139273626	1939805	161	41275											
NOTCH1	4851	broad.mit.edu	37	chr9	139402542	139402542	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagtggtgcgtgttgccCgcgtccacacagagccctcc	5	7	13	16	4	0	1	0	0	0	1	2	1	2	1	4	2	3	2	4	2	0	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:139402542C>G	ENST00000277541.6	-	21	3450	c.3375G>C	c.(3373-3375)gcG>gcC	p.A1125A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1125	EGF-like 29.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGTGTTGCCCGCGTCCACAC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			7	33					0	0	0	0	G	139402542	C	G	139402542	2	3	226	1	0	0	0	0	0	0	0	1	10617	639	23	3		3	NOTCH1	9	139402542	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	128916	139402542	1810889	162	41276											
NDOR1	27158	broad.mit.edu	37	chr9	140109611	140109611	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacctgttggacctcatccCcgttatccggccgagggcct	5	10	10	16	3	1	0	1	0	0	0	3	2	3	1	7	3	1	2	7	3	2	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:140109611C>G	ENST00000371521.4	+	9	1213	c.1130C>G	c.(1129-1131)cCc>cGc	p.P377R	NDOR1_ENST00000344894.5_Missense_Mutation_p.P377R|NDOR1_ENST00000458322.2_Missense_Mutation_p.P377R|NDOR1_ENST00000427047.2_Missense_Mutation_p.P343R	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	377	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	p.P377L(1)		breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GACCTCATCCCCGTTATCCGG	0.667													8	10					0	0	0	0	G	140109611	C	G	140109611	3	3	226	1	0	0	0	0	1	0	0	0	10319	623	22	4	1164	4	NDOR1	9	140109611	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	707069	140109611	1103820	163	41277											
ITGA8	8516	broad.mit.edu	37	chr10	15649744	15649744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcacaagagggaagacgcGatgagcctgatggttatcaa	14	8	12	7	2	2	4	2	2	0	2	2	6	2	5	1	2	1	1	1	2	5	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:15649744G>T	ENST00000378076.3	-	17	2049	c.1696C>A	c.(1696-1698)Cgc>Agc	p.R566S		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	566					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGGAAGACGCGATGAGCCTGA	0.453													123	65					4.50961e-65	6.57652e-65	1	0	T	15649744	G	T	15649744	3	4	226	1	0	0	0	0	1	0	0	0	7935	1058	37	3	1551	3	ITGA8	10	15649744	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08		15649744	119885003	164	41278											
ITGA8	8516	broad.mit.edu	37	chr10	15700997	15700997	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgatattaaaatgtctctaCctgttctcccgtgaaattct	10	17	5	9	1	3	2	0	2	3	0	5	2	3	2	2	0	1	1	2	0	5	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:15700997C>T	ENST00000378076.3	-	10	1302		c.e10+1			NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8						cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AATGTCTCTACCTGTTCTCCC	0.313													13	11					0	0	0	0	T	15700997	C	T	15700997	5	4	226	1	0	0	0	0	0	0	1	0	7935	521	18	4	2326	4	ITGA8	10	15700997	Splice_Site	SNP	C	TCGA-CV-5432-01A-02D-1683-08	51253	15700997	119833750	165	41279											
BICC1	80114	broad.mit.edu	37	chr10	60562844	60562844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttatttcacagcagcactGacaggttgctctcagaccct	9	12	7	13	0	3	2	2	1	2	1	4	2	3	2	1	1	3	4	1	1	1	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:60562844G>A	ENST00000373886.3	+	15	2027	c.2023G>A	c.(2023-2025)Gac>Aac	p.D675N	BICC1_ENST00000263103.1_Missense_Mutation_p.D301N	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	675					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CAGCAGCACTGACAGGTTGCT	0.473													9	13					0	0	0	0	A	60562844	G	A	60562844	3	1	226	1	0	0	0	0	1	0	0	0	1432	1290	45	2	2081	2	BICC1	10	60562844	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	44861847	60562844	74971903	166	41280											
NPFFR1	64106	broad.mit.edu	37	chr10	72020482	72020482	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcttgcatgtggcattGtcgaagggccaccctgcaat	8	11	10	12	1	2	0	1	0	1	0	3	1	2	0	2	2	2	3	2	2	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:72020482G>A	ENST00000277942.5	-	3	343	c.336C>T	c.(334-336)gaC>gaT	p.D112D		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	112						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						ATGTGGCATTGTCGAAGGGCC	0.577													5	2					0	0	0	0	A	72020482	G	A	72020482	2	1	226	1	0	0	0	0	0	0	0	1	10647	1368	48	4		4	NPFFR1	10	72020482	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	11457638	72020482	63514265	167	41281											
ADAMTS14	140766	broad.mit.edu	37	chr10	72468365	72468365	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttggcctgggagaccttcCcaacctgctgggcctggtgg	4	10	14	13	0	0	1	0	0	0	1	1	2	1	1	5	5	2	1	5	5	1	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:72468365C>G	ENST00000373208.1	+	4	701	c.701C>G	c.(700-702)cCc>cGc	p.P234R	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P234R	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	234					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGAGACCTTCCCAACCTGCTG	0.637													10	32					0	0	0	0	G	72468365	C	G	72468365	3	3	226	1	0	0	0	0	1	0	0	0	259	623	22	4	715	4	ADAMTS14	10	72468365	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	447883	72468365	63066382	168	41282											
UNC5B	219699	broad.mit.edu	37	chr10	73044575	73044575	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgcgtggcctggagcTccgcgggcaccaccaagagt	7	5	15	14	3	0	1	0	0	0	1	1	2	1	2	5	3	2	2	5	3	1	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:73044575T>G	ENST00000335350.6	+	3	819	c.403T>G	c.(403-405)Tcc>Gcc	p.S135A	UNC5B_ENST00000373192.4_Missense_Mutation_p.S135A	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	135	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGCCTGGAGCTCCGCGGGCAC	0.677													18	42					0	0	0	0	G	73044575	T	G	73044575	3	3	226	1	0	0	0	0	1	0	0	0	17088	1551	54	5	413	5	UNC5B	10	73044575	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	576210	73044575	62490172	169	41283											
POLR3A	11128	broad.mit.edu	37	chr10	79764513	79764513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagccaggctgctgctgCagcttgcccgtgttcagggc	4	9	15	13	1	1	0	1	0	0	0	1	0	1	0	2	2	7	7	2	2	0	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:79764513C>T	ENST00000372371.3	-	16	2345	c.2208G>A	c.(2206-2208)ctG>ctA	p.L736L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	736					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCTGCTGCTGCAGCTTGCCCG	0.592													7	15					0	0	0	0	T	79764513	C	T	79764513	2	4	226	1	0	0	0	0	0	0	0	1	12300	697	25	4		4	POLR3A	10	79764513	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	6719938	79764513	55770234	170	41284											
GLUD1	2746	broad.mit.edu	37	chr10	88854150	88854150	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgacctcccaggagccgTcgtcgcgccggatggggaag	7	5	16	13	6	0	1	0	1	0	0	3	5	1	4	4	4	1	0	4	4	1	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:88854150T>C	ENST00000277865.4	-	1	473	c.377A>G	c.(376-378)gAc>gGc	p.D126G		NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	126					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCAGGAGCCGTCGTCGCGCCG	0.697													7	17					0	0	0	0	C	88854150	T	C	88854150	3	2	226	1	0	0	0	0	1	0	0	0	6527	1667	58	5	1351	5	GLUD1	10	88854150	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	9089637	88854150	46680597	171	41285											
DPCD	25911	broad.mit.edu	37	chr10	103360557	103360557	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggcagcttgaagtaggaGacccagcgcccctaggagca	11	5	14	11	1	0	2	0	1	0	1	0	4	0	3	3	3	3	4	3	3	3	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:103360557G>C	ENST00000370151.4	+	3	257	c.208G>C	c.(208-210)Gac>Cac	p.D70H	DPCD_ENST00000370148.2_Missense_Mutation_p.D70H|DPCD_ENST00000370147.1_Missense_Mutation_p.D70H	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	70							protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						TGAAGTAGGAGACCCAGCGCC	0.572													14	30					0	0	0	0	C	103360557	G	C	103360557	3	2	226	1	0	0	0	0	1	0	0	0	4747	942	33	2	218	2	DPCD	10	103360557	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	14506407	103360557	32174190	172	41286											
PDCD11	22984	broad.mit.edu	37	chr10	105174888	105174888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggagaagaagtaccacatcGgggatgaggtcaagtgccgg	12	5	16	8	3	1	3	1	1	0	2	2	5	1	4	2	5	2	1	2	5	4	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:105174888G>T	ENST00000369797.3	+	12	1592	c.1498G>T	c.(1498-1500)Ggg>Tgg	p.G500W		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	500	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTACCACATCGGGGATGAGGT	0.547													7	18					5.68852e-11	7.08764e-11	1	0	T	105174888	G	T	105174888	3	4	226	1	0	0	0	0	1	0	0	0	11688	1116	39	3	1540	3	PDCD11	10	105174888	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1814331	105174888	30359859	173	41287											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118215284	118215284	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttgattggccacagcttGggagcacacctggctgggga	8	8	14	11	0	0	1	0	1	0	0	0	3	0	3	2	5	2	3	2	5	0	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:118215284G>C	ENST00000369230.3	+	5	653	c.507G>C	c.(505-507)ttG>ttC	p.L169F		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	169					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GCCACAGCTTGGGAGCACACC	0.423													3	30					0	0	0	0	C	118215284	G	C	118215284	3	2	226	1	0	0	0	0	1	0	0	0	12224	1339	47	4	525	4	PNLIPRP3	10	118215284	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	13040396	118215284	17319463	174	41288											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118351331	118351331	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgcttttctgacactgagcCctggggcgggacagcaatca	8	9	13	11	1	2	2	1	2	1	0	2	3	2	3	1	3	3	2	1	3	1	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:118351331C>A	ENST00000528052.1	+	3	169	c.98C>A	c.(97-99)cCc>cAc	p.P33H	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.P33H|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.P33H|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.P33H			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	33					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GACACTGAGCCCTGGGGCGGG	0.522													29	87					7.26314e-15	9.51126e-15	1	0	A	118351331	C	A	118351331	3	1	226	1	0	0	0	0	1	0	0	0	12222	623	22	4	104	4	PNLIPRP1	10	118351331	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	136047	118351331	17183416	175	41289											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118396416	118396416	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaacacaggagagagtggtAactttactagtaagtttcca	14	11	10	6	0	0	2	0	1	0	1	1	4	1	3	1	2	3	3	1	2	5	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:118396416A>G	ENST00000537242.1	+	0	1083				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AGAGAGTGGTAACTTTACTAG	0.393													3	11					0	0	0	0	G	118396416	A	G	118396416	1	3	226	0	1	0	0	0	0	0	0	0	12223	362	13	5		5	PNLIPRP2	10	118396416	RNA	SNP	A	TCGA-CV-5432-01A-02D-1683-08	45085	118396416	17138331	176	41290											
GPR26	2849	broad.mit.edu	37	chr10	125447567	125447567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttactgcgacaccagtaccGcaaaagctgcaaggagattc	13	7	9	12	2	0	1	0	0	0	1	1	3	0	1	2	1	5	4	2	1	5	3	rs141519939		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:125447567G>T	ENST00000284674.1	+	3	958	c.905G>T	c.(904-906)cGc>cTc	p.R302L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	302					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R302H(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CACCAGTACCGCAAAAGCTGC	0.597													19	36					1.56452e-12	1.99451e-12	1	0	T	125447567	G	T	125447567	3	4	226	1	0	0	0	0	1	0	0	0	6733	1087	38	3	915	3	GPR26	10	125447567	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	7051151	125447567	10087180	177	41291											
MKI67	4288	broad.mit.edu	37	chr10	129913803	129913803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagattttggtcttgacttaCgcgagaccaacagttgggtc	9	12	11	9	2	1	3	0	1	1	2	2	4	1	3	1	2	2	1	1	2	2	5	rs145509852	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:129913803C>T	ENST00000368654.3	-	7	1244	c.869G>A	c.(868-870)cGt>cAt	p.R290H	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	290					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTGACTTACGCGAGACCAA	0.498													17	42					0	0	0	0	T	129913803	C	T	129913803	3	4	226	1	0	0	0	0	1	0	0	0	9667	536	19	1	8937	1	MKI67	10	129913803	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	4466236	129913803	5620944	178	41292											
INPP5A	3632	broad.mit.edu	37	chr10	134563023	134563023	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgctgtctttctgcagacGctctgcacaaaagccaccat	9	11	8	13	1	3	1	0	0	3	1	3	1	3	1	2	0	4	5	2	0	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:134563023G>A	ENST00000368594.3	+	10	1012	c.735G>A	c.(733-735)acG>acA	p.T245T	INPP5A_ENST00000368593.3_Silent_p.T245T	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	245					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TTCTGCAGACGCTCTGCACAA	0.602													7	20					0	0	0	0	A	134563023	G	A	134563023	2	1	226	1	0	0	0	0	0	0	0	1	7807	1074	38	1		1	INPP5A	10	134563023	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	4649220	134563023	971724	179	41293											
TRIM22	10346	broad.mit.edu	37	chr11	5730527	5730527	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtagtctgaataaaaggaaGagctctgggtttgcttttga	12	13	12	4	0	2	3	0	2	2	1	2	4	2	4	0	2	2	4	0	2	5	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:5730527G>A	ENST00000379965.3	+	8	1423	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	382	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		ATAAAAGGAAGAGCTCTGGGT	0.378													13	44					0	0	0	0	A	5730527	G	A	5730527	2	1	226	1	0	0	0	0	0	0	0	1	16591	933	33	2		2	TRIM22	11	5730527	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08		5730527	129275989	180	41294											
C11orf42	160298	broad.mit.edu	37	chr11	6231257	6231257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggccactaccaagcctcCtggagcaggcaggatctgag	9	6	14	12	0	1	1	0	1	1	0	2	3	2	3	4	5	3	2	4	5	2	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:6231257C>T	ENST00000316375.2	+	2	300	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	84										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAAGCCTCCTGGAGCAGGC	0.612													15	10					0	0	0	0	T	6231257	C	T	6231257	2	4	226	1	0	0	0	0	0	0	0	1	1652	680	24	4		4	C11orf42	11	6231257	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	500730	6231257	128775259	181	41295											
OR5P3	120066	broad.mit.edu	37	chr11	7847305	7847305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgactgatgaggagtacCcaatgtctacaaaggccaaa	14	8	11	8	0	1	3	0	3	1	0	1	4	1	4	2	2	2	1	2	2	5	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:7847305C>G	ENST00000328375.1	-	1	214	c.215G>C	c.(214-216)gGg>gCg	p.G72A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAGGAGTACCCAATGTCTAC	0.438													40	23					0	0	0	0	G	7847305	C	G	7847305	3	3	226	1	0	0	0	0	1	0	0	0	11250	623	22	4	723	4	OR5P3	11	7847305	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	1616048	7847305	127159211	182	41296											
PTPRJ	5795	broad.mit.edu	37	chr11	48181590	48181590	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggaccatcagagatttcAcagtgaaaaatgtaagtaag	18	9	9	5	0	2	2	2	1	0	1	2	4	2	3	1	1	0	2	1	1	5	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:48181590A>T	ENST00000418331.2	+	22	3899	c.3547A>T	c.(3547-3549)Aca>Tca	p.T1183S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1183	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGAGATTTCACAGTGAAAAA	0.388													60	35					0	0	0	0	T	48181590	A	T	48181590	3	4	226	1	0	0	0	0	1	0	0	0	12886	159	6	5	3642	5	PTPRJ	11	48181590	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	40334285	48181590	86824926	183	41297											
OR4C16	219428	broad.mit.edu	37	chr11	55340052	55340052	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgtggcctgggtgggatCctgtgtgcattctttagttc	3	15	15	8	0	1	0	0	0	1	0	3	1	2	1	2	4	1	3	2	4	1	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:55340052C>A	ENST00000314634.3	+	1	449	c.449C>A	c.(448-450)tCc>tAc	p.S150Y		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGGGTGGGATCCTGTGTGCAT	0.498													20	58					1.00905e-13	1.30802e-13	1	0	A	55340052	C	A	55340052	3	1	226	1	0	0	0	0	1	0	0	0	11120	855	30	2	451	2	OR4C16	11	55340052	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	7158462	55340052	79666464	184	41298											
OR8H3	390152	broad.mit.edu	37	chr11	55890010	55890010	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgataatccgcctggacctCcagcttcacactcccatgta	9	11	6	15	1	1	1	1	1	0	0	4	2	4	2	5	1	1	2	5	1	2	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:55890010C>A	ENST00000313472.3	+	1	162	c.162C>A	c.(160-162)ctC>ctA	p.L54L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCCTGGACCTCCAGCTTCACA	0.433													60	308					7.1157e-29	1.0109e-28	1	0	A	55890010	C	A	55890010	2	1	226	1	0	0	0	0	0	0	0	1	11310	842	30	2		2	OR8H3	11	55890010	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	549958	55890010	79116506	185	41299											
OR5T2	219464	broad.mit.edu	37	chr11	56000380	56000380	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaatagtacatgggtttgtgGagctgggaatccctaatgac	12	11	12	6	0	0	1	0	1	0	0	1	3	1	3	1	3	2	3	1	3	5	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56000380G>A	ENST00000313264.4	-	1	357	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGGGTTTGTGGAGCTGGGAAT	0.393													6	92					0	0	0	0	A	56000380	G	A	56000380	2	1	226	1	0	0	0	0	0	0	0	1	11253	1161	41	2		2	OR5T2	11	56000380	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	110370	56000380	79006136	186	41300											
OR5T2	219464	broad.mit.edu	37	chr11	56000428	56000428	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagtcctaaatttcccatGagagtgaagaggtagattgc	13	11	10	7	0	1	4	1	2	0	3	3	5	3	4	2	1	1	1	2	1	4	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56000428G>A	ENST00000313264.4	-	1	309	c.234C>T	c.(232-234)ctC>ctT	p.L78L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AATTTCCCATGAGAGTGAAGA	0.413													9	77					0	0	0	0	A	56000428	G	A	56000428	2	1	226	1	0	0	0	0	0	0	0	1	11253	1277	45	2		2	OR5T2	11	56000428	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	48	56000428	79006088	187	41301											
OR8K3	219473	broad.mit.edu	37	chr11	56086376	56086376	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacatgaaattgaattgatAattctgatctttgcagctat	14	15	6	6	0	2	4	0	4	2	0	2	4	2	4	0	0	2	2	0	0	4	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56086376A>T	ENST00000312711.1	+	1	594	c.594A>T	c.(592-594)atA>atT	p.I198I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTGAATTGATAATTCTGATCT	0.363													22	70					0	0	0	0	T	56086376	A	T	56086376	2	4	226	1	0	0	0	0	0	0	0	1	11315	352	13	5		5	OR8K3	11	56086376	Silent	SNP	A	TCGA-CV-5432-01A-02D-1683-08	85948	56086376	78920140	188	41302											
OR5M10	390167	broad.mit.edu	37	chr11	56344727	56344727	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtcagcagtgtctgagaGagcccattaaggaagccata	14	7	12	8	0	2	2	1	1	1	1	2	4	2	3	2	2	3	1	2	2	4	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56344727G>A	ENST00000526812.2	-	1	536	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GTGTCTGAGAGAGCCCATTAA	0.468													22	72					0	0	0	0	A	56344727	G	A	56344727	2	1	226	1	0	0	0	0	0	0	0	1	11244	929	33	2		2	OR5M10	11	56344727	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	258351	56344727	78661789	189	41303											
OR5B21	219968	broad.mit.edu	37	chr11	58275518	58275518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaggaggggtatctgaaGattggggtcatctgttaatc	10	11	15	5	0	3	2	1	1	2	1	4	4	3	4	0	6	0	2	0	6	3	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:58275518G>A	ENST00000360374.2	-	1	60	c.61C>T	c.(61-63)Ctt>Ttt	p.L21F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTATCTGAAGATTGGGGTCA	0.468													23	33					0	0	0	0	A	58275518	G	A	58275518	3	1	226	1	0	0	0	0	1	0	0	0	11222	942	33	2	870	2	OR5B21	11	58275518	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1930791	58275518	76730998	190	41304											
DTX4	23220	broad.mit.edu	37	chr11	58949291	58949291	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgtgggagtgggagaaCgacaatggctcctggacgcc	8	7	18	8	2	0	1	0	0	0	1	1	5	1	3	2	5	1	1	2	5	2	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:58949291C>T	ENST00000227451.3	+	2	395	c.291C>T	c.(289-291)aaC>aaT	p.N97N	DTX4_ENST00000532982.1_5'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	97	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				AGTGGGAGAACGACAATGGCT	0.617													13	43					0	0	0	0	T	58949291	C	T	58949291	2	4	226	1	0	0	0	0	0	0	0	1	4833	535	19	1		1	DTX4	11	58949291	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	673773	58949291	76057225	191	41305											
OR4D11	219986	broad.mit.edu	37	chr11	59271271	59271271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgacatctgcttctccTccacaactgctcctaaagtc	8	13	4	16	0	2	1	0	1	2	0	7	1	5	1	4	0	3	2	4	0	3	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:59271271T>C	ENST00000313253.1	+	1	223	c.223T>C	c.(223-225)Tcc>Ccc	p.S75P		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGCTTCTCCTCCACAACTGC	0.488													41	80					0	0	0	0	C	59271271	T	C	59271271	3	2	226	1	0	0	0	0	1	0	0	0	11126	1551	54	5	225	5	OR4D11	11	59271271	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	321980	59271271	75735245	192	41306											
SLC22A9	114571	broad.mit.edu	37	chr11	63137901	63137901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggctgggtgtatgacagaAtctccttctcatccaccatc	9	12	8	12	0	2	2	1	1	2	1	6	2	3	2	3	2	0	2	3	2	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:63137901A>G	ENST00000279178.3	+	1	622	c.373A>G	c.(373-375)Atc>Gtc	p.I125V	SLC22A9_ENST00000310969.4_Missense_Mutation_p.I125V	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	125					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GTATGACAGAATCTCCTTCTC	0.493													11	32					0	0	0	0	G	63137901	A	G	63137901	3	3	226	1	0	0	0	0	1	0	0	0	14549	101	4	5	375	5	SLC22A9	11	63137901	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	3866630	63137901	71868615	193	41307											
MTL5	9633	broad.mit.edu	37	chr11	68518104	68518104	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcggggctgggcagccCgcccggcagagggccctcct	4	5	15	17	3	0	1	0	0	0	1	3	1	2	1	5	5	1	3	5	5	0	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:68518104C>A	ENST00000443940.2	-	2	111	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	MTL5_ENST00000544963.1_Missense_Mutation_p.G9W|MTL5_ENST00000255087.5_Missense_Mutation_p.G9W			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	9					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGGGCAGCCCGCCCGGCAGA	0.716													6	10					0.000274275	0.000292509	1	0	A	68518104	C	A	68518104	3	1	226	1	0	0	0	0	1	0	0	0	10006	652	23	3	1541	3	MTL5	11	68518104	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	5380203	68518104	66488412	194	41308											
EXPH5	23086	broad.mit.edu	37	chr11	108381350	108381350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagagataaatggtcaaaGccagatctgcttccactttg	13	10	8	10	0	2	2	1	0	1	2	3	3	3	2	3	1	2	1	3	1	4	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:108381350G>A	ENST00000265843.4	-	6	4994	c.4884C>T	c.(4882-4884)ggC>ggT	p.G1628G	EXPH5_ENST00000525344.1_Silent_p.G1621G|EXPH5_ENST00000428840.1_Silent_p.G1552G|EXPH5_ENST00000443411.1_Silent_p.G1440G	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1628					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AATGGTCAAAGCCAGATCTGC	0.488													22	16					0	0	0	0	A	108381350	G	A	108381350	2	1	226	1	0	0	0	0	0	0	0	1	5360	958	34	4		4	EXPH5	11	108381350	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	39863246	108381350	26625166	195	41309											
OR8D4	338662	broad.mit.edu	37	chr11	123777713	123777713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaactctcctgctccagcaCttatattgatgagcttttga	10	15	6	10	0	1	3	0	3	1	0	3	3	2	3	2	0	4	3	2	0	4	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:123777713C>T	ENST00000321355.2	+	1	605	c.575C>T	c.(574-576)aCt>aTt	p.T192I		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGCTCCAGCACTTATATTGAT	0.373													10	108					0	0	0	0	T	123777713	C	T	123777713	3	4	226	1	0	0	0	0	1	0	0	0	11304	565	20	4	577	4	OR8D4	11	123777713	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	15396363	123777713	11228803	196	41310											
RBP5	83758	broad.mit.edu	37	chr12	7280932	7280932	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggaaggtgctgagcgtcctCaccgtcatgtggttgccctg	5	10	14	12	3	2	1	2	1	0	0	3	2	3	2	3	3	3	2	3	3	1	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:7280932C>T	ENST00000266560.3	-	2	322	c.156G>A	c.(154-156)gtG>gtA	p.V52V	RBP5_ENST00000542370.1_Silent_p.V52V	NM_031491.2	NP_113679.1	P82980	RET5_HUMAN	retinol binding protein 5, cellular	52						cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	TGAGCGTCCTCACCGTCATGT	0.577													19	75					0	0	0	0	T	7280932	C	T	7280932	2	4	226	1	0	0	0	0	0	0	0	1	13241	813	29	2		2	RBP5	12	7280932	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08		7280932	126570963	197	41311											
SLC2A14	144195	broad.mit.edu	37	chr12	7973850	7973850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatagtattaaccacaccCgcgctgatggtggcatagat	13	9	10	9	2	0	3	0	1	0	2	0	3	0	3	2	2	1	3	2	2	5	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:7973850C>T	ENST00000543909.1	-	13	1764	c.1005G>A	c.(1003-1005)gcG>gcA	p.A335A	SLC2A14_ENST00000542505.1_5'UTR|SLC2A14_ENST00000539924.1_Silent_p.A350A|SLC2A14_ENST00000542546.1_Silent_p.A226A|SLC2A14_ENST00000431042.2_Silent_p.A312A|SLC2A14_ENST00000340749.5_Silent_p.A312A|SLC2A14_ENST00000535295.1_Silent_p.A226A|SLC2A14_ENST00000396589.2_Silent_p.A335A			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	335					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TAACCACACCCGCGCTGATGG	0.413													68	62					0	0	0	0	T	7973850	C	T	7973850	2	4	226	1	0	0	0	0	0	0	0	1	14631	639	23	1		1	SLC2A14	12	7973850	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	692918	7973850	125878045	198	41312											
TAS2R31	259290	broad.mit.edu	37	chr12	11183779	11183779	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaccaactctggagacCgccagagcagtgagaatctg	14	5	11	11	1	2	3	0	1	2	3	2	5	2	3	3	1	4	2	3	1	3	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:11183779C>T	ENST00000390675.2	-	1	227	c.156G>A	c.(154-156)gcG>gcA	p.A52A	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	52					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.A52A(1)		kidney(1)|lung(6)	7						CTCTGGAGACCGCCAGAGCAG	0.378													41	131					0	0	0	0	T	11183779	C	T	11183779	2	4	226	1	0	0	0	0	0	0	0	1	15665	639	23	1		1	TAS2R31	12	11183779	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	3209929	11183779	122668116	199	41313											
ITPR2	3709	broad.mit.edu	37	chr12	26774192	26774192	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatctgccttgatttgcttgTagttatctacgtcttgatta	7	19	8	7	1	3	2	0	2	3	0	3	3	3	2	1	0	3	3	1	0	4	8			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:26774192T>C	ENST00000381340.3	-	26	3742	c.3326A>G	c.(3325-3327)tAc>tGc	p.Y1109C	ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1109					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GATTTGCTTGTAGTTATCTAC	0.368													11	264					0	0	0	0	C	26774192	T	C	26774192	3	2	226	1	0	0	0	0	1	0	0	0	7974	1638	57	5	4907	5	ITPR2	12	26774192	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	15590413	26774192	107077703	200	41314											
C12orf40	283461	broad.mit.edu	37	chr12	40041680	40041680	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actccatcatctttttcagtGgagttaccttctaacagaca	11	14	5	11	0	4	1	2	0	2	1	5	2	5	2	2	1	2	1	2	1	2	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:40041680G>T	ENST00000324616.5	+	6	625	c.471G>T	c.(469-471)gtG>gtT	p.V157V	C12orf40_ENST00000405531.3_Silent_p.V157V|C12orf40_ENST00000398716.1_Silent_p.V80V	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	157										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTTTTTCAGTGGAGTTACCTT	0.383													8	32					0.000157383	0.000170204	1	0	T	40041680	G	T	40041680	2	4	226	1	0	0	0	0	0	0	0	1	1698	1335	47	4		4	C12orf40	12	40041680	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	13267488	40041680	93810215	201	41315											
ADAMTS20	80070	broad.mit.edu	37	chr12	43833759	43833759	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattctttcaactgcgttatTtgatccactgtattcaataa	12	17	4	8	1	3	1	2	1	1	0	4	1	4	1	1	0	2	2	1	0	6	7			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:43833759T>A	ENST00000389420.3	-	17	2403	c.2404A>T	c.(2404-2406)Aat>Tat	p.N802Y	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N802Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	802	Spacer.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTGCGTTATTTGATCCACTG	0.299													8	3					0	0	0	0	A	43833759	T	A	43833759	3	1	226	1	0	0	0	0	1	0	0	0	266	1841	64	5	3419	5	ADAMTS20	12	43833759	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	3792079	43833759	90018136	202	41316											
DBX2	440097	broad.mit.edu	37	chr12	45410203	45410203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagtctttctgaaggttctgGagaattctccctccatcttg	7	16	8	10	0	5	2	0	1	5	1	7	3	6	2	2	2	0	1	2	2	3	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:45410203G>T	ENST00000332700.6	-	4	1057	c.886C>A	c.(886-888)Cca>Aca	p.P296T		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	296						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GAAGGTTCTGGAGAATTCTCC	0.502													12	43					7.03913e-09	8.46895e-09	1	0	T	45410203	G	T	45410203	3	4	226	1	0	0	0	0	1	0	0	0	4293	1174	41	2	137	2	DBX2	12	45410203	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1576444	45410203	88441692	203	41317											
KRT6C	286887	broad.mit.edu	37	chr12	52863216	52863216	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgttgacttgtccaacgcCttcgccattcagcctgtgga	7	11	10	13	3	1	1	1	1	0	0	3	3	2	2	4	1	2	1	4	1	1	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:52863216C>G	ENST00000252250.6	-	8	1485	c.1438G>C	c.(1438-1440)Ggc>Cgc	p.G480R		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	480	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGTCCAACGCCTTCGCCATTC	0.597													3	38					0	0	0	0	G	52863216	C	G	52863216	3	3	226	1	0	0	0	0	1	0	0	0	8534	681	24	4	264	4	KRT6C	12	52863216	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	7453013	52863216	80988679	204	41318											
FAM19A2	338811	broad.mit.edu	37	chr12	62104166	62104166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaatgtcatcagccttgagGatcacttgatttctcctggg	8	14	9	10	0	5	2	4	2	1	0	6	3	5	3	2	2	1	0	2	2	1	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:62104166G>A	ENST00000551449.1	-	3	317	c.139C>T	c.(139-141)Cct>Tct	p.P47S	FAM19A2_ENST00000551619.1_3'UTR|FAM19A2_ENST00000416284.3_3'UTR|FAM19A2_ENST00000550003.1_3'UTR			Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	0						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CAGCCTTGAGGATCACTTGAT	0.368													38	66					0	0	0	0	A	62104166	G	A	62104166	3	1	226	1	0	0	0	0	1	0	0	0	5575	1189	41	2		2	FAM19A2	12	62104166	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	9240950	62104166	71747729	205	41319											
CAND1	55832	broad.mit.edu	37	chr12	67699449	67699449	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaaccagagagctttgaaActgggtactctttctgccct	12	11	8	10	0	2	2	0	1	2	1	2	3	2	2	2	1	5	2	2	1	4	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:67699449A>T	ENST00000545606.1	+	10	2438	c.2001A>T	c.(1999-2001)aaA>aaT	p.K667N		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	667					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAGCTTTGAAACTGGGTACTC	0.423													82	28					0	0	0	0	T	67699449	A	T	67699449	3	4	226	1	0	0	0	0	1	0	0	0	2640	40	2	5	2039	5	CAND1	12	67699449	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	5595283	67699449	66152446	206	41320											
MYF5	4617	broad.mit.edu	37	chr12	81110924	81110924	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccgtcccccgagggtgaaTttggggacgagtttgtgccg	6	10	15	10	4	0	1	0	1	0	0	1	4	1	2	4	3	2	1	4	3	2	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:81110924T>A	ENST00000228644.3	+	1	234	c.82T>A	c.(82-84)Ttt>Att	p.F28I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	28					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CGAGGGTGAATTTGGGGACGA	0.622													21	14					0	0	0	0	A	81110924	T	A	81110924	3	1	226	1	0	0	0	0	1	0	0	0	10097	1493	52	5	84	5	MYF5	12	81110924	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	13411475	81110924	52740971	207	41321											
UTP20	27340	broad.mit.edu	37	chr12	101767436	101767436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaatgatgactctgccaCgtgcaaaaagatggcatcca	14	8	9	10	1	2	3	1	2	1	1	3	4	3	3	2	1	2	2	2	1	3	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:101767436C>A	ENST00000261637.4	+	54	7196	c.7022C>A	c.(7021-7023)aCg>aAg	p.T2341K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2341					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.T2341M(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GACTCTGCCACGTGCAAAAAG	0.438													13	28					2.27111e-07	2.64963e-07	1	0	A	101767436	C	A	101767436	3	1	226	1	0	0	0	0	1	0	0	0	17195	536	19	3	7236	3	UTP20	12	101767436	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	20656512	101767436	32084459	208	41322											
ACAD10	80724	broad.mit.edu	37	chr12	112186135	112186135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggcatcctggatcctCgttgccaactctgtgtgttt	5	14	11	11	1	1	0	0	0	1	0	4	1	3	1	3	3	2	4	3	3	1	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:112186135C>A	ENST00000455480.2	+	18	2770	c.2593C>A	c.(2593-2595)Cgt>Agt	p.R865S	ACAD10_ENST00000392636.2_Missense_Mutation_p.R436S|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.R834S	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	834							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCTGGATCCTCGTTGCCAACT	0.537													42	24					2.24893e-16	3.00639e-16	1	0	A	112186135	C	A	112186135	3	1	226	1	0	0	0	0	1	0	0	0	108	884	31	3	2659	3	ACAD10	12	112186135	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	10418699	112186135	21665760	209	41323											
C12orf52	84934	broad.mit.edu	37	chr12	113629589	113629589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctaccccacgacgaggtggGgccacccagaaaccaaagcc	12	3	10	16	2	1	1	0	0	1	1	1	3	1	1	6	3	3	0	6	3	3	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:113629589G>A	ENST00000548278.1	+	4	1469	c.777G>A	c.(775-777)ggG>ggA	p.G259G	C12orf52_ENST00000549621.1_Silent_p.G259G|C12orf52_ENST00000552495.1_Silent_p.G283G|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	259	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GACGAGGTGGGGCCACCCAGA	0.602													30	16					0	0	0	0	A	113629589	G	A	113629589	2	1	226	1	0	0	0	0	0	0	0	1	1709	1219	43	4		4	C12orf52	12	113629589	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1443454	113629589	20222306	210	41324											
ERCC5	2073	broad.mit.edu	37	chr13	103514530	103514530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacccctccttctccaagaaCtttactagctatgcaagctg	10	12	5	14	0	1	1	0	0	1	1	3	1	2	1	4	0	6	3	4	0	7	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr13:103514530C>G	ENST00000355739.4	+	8	2454	c.1031C>G	c.(1030-1032)aCt>aGt	p.T344S	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.N769K	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCTCCAAGAACTTTACTAGCT	0.512			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				12	67					0	0	0	0	G	103514530	C	G	103514530	3	3	226	1	0	0	0	0	1	0	0	0	5254	565	20	4	1061	4	ERCC5	13	103514530	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08		103514530	11655348	211	41325											
TGM1	7051	broad.mit.edu	37	chr14	24727794	24727795	+	In_Frame_Ins	INS	-	-	ATGTCC																															tcatgttctcgtcgaagtagINSatgtccatggtaagggatgt																										TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:24727794_24727795insATGTCC	ENST00000206765.6	-	8	1367_1368	c.1244_1245insGGACAT	c.(1243-1245)ata>aGGACATta	p.415_415I>RTL	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	415					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CGTCGAAGTAGATGTCCATGGT	0.569													12	85	---	---	---	---					ATGTCC	24727795	-	ATGTCC	24727794	7	5	226	1	0	1	1	0	0	0	0	0	15923	932	33	0	1240	0	TGM1	14	24727794	In_Frame_Ins	INS	-	TCGA-CV-5432-01A-02D-1683-08		24727794	82621746	212	41326											
BAZ1A	11177	broad.mit.edu	37	chr14	35262044	35262044	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttcagctattgcctGgaagattgcagtcaggaaga	10	13	10	8	0	4	2	2	0	2	2	4	4	4	4	1	2	3	2	1	2	3	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:35262044G>A	ENST00000360310.1	-	12	2014	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	BAZ1A_ENST00000382422.2_Nonsense_Mutation_p.Q483*|BAZ1A_ENST00000358716.4_Nonsense_Mutation_p.Q483*	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	483	DDT.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GCTATTGCCTGGAAGATTGCA	0.398													16	87					0	0	0	0	A	35262044	G	A	35262044	4	1	226	1	0	0	0	0	0	1	0	0	1333	1357	47	4	3287	4	BAZ1A	14	35262044	Nonsense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	10534250	35262044	72087496	213	41327											
LRFN5	145581	broad.mit.edu	37	chr14	42356347	42356347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgagaagatggttagcttGcatacccttagtttggatca	10	14	11	6	0	1	2	1	1	0	2	1	4	1	3	1	2	3	5	1	2	4	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:42356347G>T	ENST00000554171.1	+	5	2951	c.519G>T	c.(517-519)ttG>ttT	p.L173F	LRFN5_ENST00000554120.1_Missense_Mutation_p.L173F|LRFN5_ENST00000298119.4_Missense_Mutation_p.L173F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	173						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGTTAGCTTGCATACCCTTA	0.413										HNSCC(30;0.082)			36	19					3.93418e-24	5.50785e-24	1	0	T	42356347	G	T	42356347	3	4	226	1	0	0	0	0	1	0	0	0	9005	1310	46	4	521	4	LRFN5	14	42356347	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	7094303	42356347	64993193	214	41328											
LRFN5	145581	broad.mit.edu	37	chr14	42356804	42356804	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggatttctcctgaagggAagcttatttcaaatgcaaca	13	12	8	8	0	2	1	1	1	1	0	3	3	2	3	1	2	3	2	1	2	5	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:42356804A>T	ENST00000554171.1	+	5	3408	c.976A>T	c.(976-978)Aag>Tag	p.K326*	LRFN5_ENST00000554120.1_Nonsense_Mutation_p.K326*|LRFN5_ENST00000298119.4_Nonsense_Mutation_p.K326*			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	326	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCCTGAAGGGAAGCTTATTTC	0.458										HNSCC(30;0.082)			17	154					0	0	0	0	T	42356804	A	T	42356804	4	4	226	1	0	0	0	0	0	1	0	0	9005	247	9	5	978	5	LRFN5	14	42356804	Nonsense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	457	42356804	64992736	215	41329											
FSCB	84075	broad.mit.edu	37	chr14	44976037	44976037	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgctgaagctcagaagAtactctaatagactcatagg	14	11	9	7	0	3	4	2	1	1	3	3	4	3	4	0	1	3	3	0	1	6	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:44976037A>G	ENST00000340446.4	-	1	445	c.154T>C	c.(154-156)Tct>Cct	p.S52P		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	52						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCTCAGAAGATACTCTAATA	0.418													71	173					0	0	0	0	G	44976037	A	G	44976037	3	3	226	1	0	0	0	0	1	0	0	0	6114	333	12	5	2327	5	FSCB	14	44976037	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	2619233	44976037	62373503	216	41330											
SOCS4	122809	broad.mit.edu	37	chr14	55510854	55510854	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctcctagaacattataaGgacccaagcgcctgtatgtt	11	10	10	10	1	0	1	0	0	0	1	1	2	1	2	3	2	2	3	3	2	6	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:55510854G>A	ENST00000395472.2	+	2	1427	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	SOCS4_ENST00000339298.2_Silent_p.K365K|SOCS4_ENST00000555846.1_Silent_p.K365K	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	365	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AACATTATAAGGACCCAAGCG	0.423													44	47					0	0	0	0	A	55510854	G	A	55510854	2	1	226	1	0	0	0	0	0	0	0	1	15004	991	35	4		4	SOCS4	14	55510854	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	10534817	55510854	51838686	217	41331											
SYNE2	23224	broad.mit.edu	37	chr14	64468757	64468757	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaaatggccatccagggAtttcatctcattgatgctga	12	12	8	9	0	2	2	2	2	1	0	4	3	3	3	2	2	1	1	2	2	2	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:64468757A>G	ENST00000358025.3	+	29	3974	c.3744A>G	c.(3742-3744)ggA>ggG	p.G1248G	SYNE2_ENST00000344113.4_Silent_p.G1248G|SYNE2_ENST00000554584.1_Silent_p.G1248G|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1248					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCATCCAGGGATTTCATCTCA	0.418													94	99					0	0	0	0	G	64468757	A	G	64468757	2	3	226	1	0	0	0	0	0	0	0	1	15537	320	12	5		5	SYNE2	14	64468757	Silent	SNP	A	TCGA-CV-5432-01A-02D-1683-08	8957903	64468757	42880783	218	41332											
DCAF5	8816	broad.mit.edu	37	chr14	69542127	69542127	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcagagcccgaaaggataTactgttggaacaaaaaatat	18	8	8	7	1	1	1	1	0	0	1	1	4	1	3	1	2	3	1	1	2	8	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:69542127T>C	ENST00000341516.5	-	7	1028	c.879_splice	c.e7-1	p.Y294_splice	DCAF5_ENST00000556847.1_Splice_Site_p.Y212_splice|DCAF5_ENST00000554215.1_Splice_Site_p.Y212_splice|DCAF5_ENST00000557386.1_Splice_Site_p.Y293_splice|DCAF5_ENST00000553293.1_5'UTR	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	294						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CGAAAGGATATACTGTTGGAA	0.308													40	101					0	0	0	0	C	69542127	T	C	69542127	5	2	226	1	0	0	0	0	0	0	1	0	4306	1420	49	5	1959	5	DCAF5	14	69542127	Splice_Site	SNP	T	TCGA-CV-5432-01A-02D-1683-08	5073370	69542127	37807413	219	41333											
ADAM21	8747	broad.mit.edu	37	chr14	70924226	70924226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acagcttcataatggcagtgGatgggaccctcgtgtacatc	10	10	11	10	1	1	0	1	0	0	0	3	2	1	2	1	3	2	3	1	3	2	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:70924226G>C	ENST00000603540.1	+	2	268	c.10G>C	c.(10-12)Gat>Cat	p.D4H	ADAM21_ENST00000267499.3_Missense_Mutation_p.D4H|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	4					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AATGGCAGTGGATGGGACCCT	0.537													16	186					0	0	0	0	C	70924226	G	C	70924226	3	2	226	1	0	0	0	0	1	0	0	0	243	1174	41	2	12	2	ADAM21	14	70924226	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1382099	70924226	36425314	220	41334											
IFI27L1	122509	broad.mit.edu	37	chr14	94568245	94568245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctccatagcagccaaGatgatgtctacagcagccat	12	8	8	13	0	1	2	0	1	1	1	3	2	3	2	4	0	5	3	4	0	3	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:94568245G>T	ENST00000556381.1	+	5	479	c.144G>T	c.(142-144)aaG>aaT	p.K48N	IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.K49N|IFI27L1_ENST00000393115.3_Missense_Mutation_p.K49N|IFI27L1_ENST00000555523.1_Missense_Mutation_p.K49N|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000553664.1_Missense_Mutation_p.D72Y|IFI27L1_ENST00000554544.1_Intron			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	49						integral to membrane				lung(2)	2						TAGCAGCCAAGATGATGTCTA	0.592													13	49					2.23348e-06	2.52909e-06	1	0	T	94568245	G	T	94568245	3	4	226	1	0	0	0	0	1	0	0	0	7566	933	33	2	157	2	IFI27L1	14	94568245	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	23644019	94568245	12781295	221	41335											
ATP10A	57194	broad.mit.edu	37	chr15	25962006	25962006	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctgatgcctcgccacGgctaggctcttgtcacactc	5	11	9	16	2	2	1	1	1	1	0	5	1	3	1	3	2	2	3	3	2	1	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:25962006G>T	ENST00000356865.6	-	9	1758	c.1647C>A	c.(1645-1647)gcC>gcA	p.A549A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	549					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTCGCCACGGCTAGGCTCT	0.587													12	52					0.000219431	0.000235981	1	0	T	25962006	G	T	25962006	2	4	226	1	0	0	0	0	0	0	0	1	1120	1103	39	3		3	ATP10A	15	25962006	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08		25962006	76569386	222	41336											
RYR3	6263	broad.mit.edu	37	chr15	34021144	34021144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttggaccgcgtttatGgcattaaggatcaaactttt	9	16	9	7	2	2	0	1	0	1	0	2	2	2	2	1	3	1	3	1	3	3	7			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:34021144G>T	ENST00000389232.4	+	47	7190	c.7120G>T	c.(7120-7122)Ggc>Tgc	p.G2374C	RYR3_ENST00000415757.3_Missense_Mutation_p.G2374C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2374	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCGCGTTTATGGCATTAAGGA	0.463													9	12					1.12685e-05	1.25025e-05	1	0	T	34021144	G	T	34021144	3	4	226	1	0	0	0	0	1	0	0	0	13855	1348	47	4	7306	4	RYR3	15	34021144	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	8059138	34021144	68510248	223	41337											
IVD	3712	broad.mit.edu	37	chr15	40710403	40710403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgtatgagataggggctGggaccagcgaggtgaggcgg	9	6	20	6	2	0	2	0	2	0	1	0	5	0	3	1	6	2	3	1	6	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:40710403G>T	ENST00000249760.2	+	12	1556	c.1213G>T	c.(1213-1215)Ggg>Tgg	p.G405W	IVD_ENST00000479013.2_Missense_Mutation_p.G378W|IVD_ENST00000487418.2_Missense_Mutation_p.G408W	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	405	Substrate binding.				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GATAGGGGCTGGGACCAGCGA	0.567													14	53					9.16793e-09	1.09958e-08	1	0	T	40710403	G	T	40710403	3	4	226	1	0	0	0	0	1	0	0	0	7981	1348	47	4	1268	4	IVD	15	40710403	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	6689259	40710403	61820989	224	41338											
TP53BP1	7158	broad.mit.edu	37	chr15	43784507	43784507	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggattttctttgtgcgtcTggagattaggaaggtgtcga	8	14	14	5	2	2	1	0	0	2	1	3	5	2	3	0	4	1	0	0	4	2	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:43784507T>C	ENST00000263801.3	-	2	404	c.152A>G	c.(151-153)cAg>cGg	p.Q51R	TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q56R|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q56R|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q56R	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	51					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTTGTGCGTCTGGAGATTAGG	0.393								Other conserved DNA damage response genes					3	96					0	0	0	0	C	43784507	T	C	43784507	3	2	226	1	0	0	0	0	1	0	0	0	16478	1580	55	5	5874	5	TP53BP1	15	43784507	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	3074104	43784507	58746885	225	41339											
C15orf43	145645	broad.mit.edu	37	chr15	45253759	45253759	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagttttatttgggaacaaGaccaacattttctgatagaa	14	14	8	5	0	1	3	0	1	1	2	1	4	1	4	1	1	2	2	1	1	7	7			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:45253759G>C	ENST00000340827.3	+	4	342	c.325G>C	c.(325-327)Gac>Cac	p.D109H		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	109										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TTGGGAACAAGACCAACATTT	0.284													3	63					0	0	0	0	C	45253759	G	C	45253759	3	2	226	1	0	0	0	0	1	0	0	0	1809	942	33	2	339	2	C15orf43	15	45253759	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1469252	45253759	57277633	226	41340											
FBN1	2200	broad.mit.edu	37	chr15	48720627	48720627	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggtgttgaggcagcgccCattctcacagatccctggct	7	9	12	13	2	1	2	1	1	1	1	3	2	2	2	2	3	1	3	2	3	0	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:48720627C>A	ENST00000316623.5	-	57	7368	c.6913G>T	c.(6913-6915)Ggg>Tgg	p.G2305W		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2305	EGF-like 40; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGGCAGCGCCCATTCTCACAG	0.488													18	15					3.32936e-07	3.84926e-07	1	0	A	48720627	C	A	48720627	3	1	226	1	0	0	0	0	1	0	0	0	5747	594	21	4	1742	4	FBN1	15	48720627	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	3466868	48720627	53810765	227	41341											
THSD4	79875	broad.mit.edu	37	chr15	72023554	72023554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccaccccacaggagacCaggtagaatcccttgtcttg	9	8	11	13	0	1	2	0	0	1	2	2	3	2	2	5	3	1	1	5	3	2	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:72023554C>A	ENST00000355327.3	+	10	1762	c.1628C>A	c.(1627-1629)cCa>cAa	p.P543Q	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.P543Q|THSD4_ENST00000357769.4_Missense_Mutation_p.P183Q			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	543						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CACAGGAGACCAGGTAGAATC	0.557											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	36					0.11911	0.120995	1	0	A	72023554	C	A	72023554	3	1	226	1	0	0	0	0	1	0	0	0	15972	594	21	4	1662	4	THSD4	15	72023554	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	23302927	72023554	30507838	228	41342											
IL16	3603	broad.mit.edu	37	chr15	81517986	81517986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctagcactggcctcggaGgctgctcaactccaagcagc	9	7	11	14	1	2	0	1	0	1	0	4	2	3	1	2	3	5	4	2	3	3	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:81517986G>T	ENST00000394660.2	+	2	606	c.246G>T	c.(244-246)gaG>gaT	p.E82D	IL16_ENST00000302987.4_Missense_Mutation_p.E82D	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	82					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGGCCTCGGAGGCTGCTCAAC	0.567													6	25					8.12818e-05	8.83997e-05	1	0	T	81517986	G	T	81517986	3	4	226	1	0	0	0	0	1	0	0	0	7686	991	35	4	248	4	IL16	15	81517986	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	9494432	81517986	21013406	229	41343											
SRRM2	23524	broad.mit.edu	37	chr16	2811881	2811881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagctccagggtcccaccGagagatttcttcttctccca	7	11	7	16	1	3	1	0	0	3	1	7	3	6	1	5	1	1	1	5	1	0	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:2811881G>A	ENST00000301740.8	+	11	1901	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	451	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGGTCCCACCGAGAGATTTCT	0.542													4	134					0	0	0	0	A	2811881	G	A	2811881	3	1	226	1	0	0	0	0	1	0	0	0	15259	1058	37	1	1390	1	SRRM2	16	2811881	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08		2811881	87542872	230	41344											
CREBBP	1387	broad.mit.edu	37	chr16	3781826	3781826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttctgggacaggtcattgGacacgttgggcatgctgggc	6	10	16	9	1	2	0	1	0	1	0	2	2	2	2	0	5	1	4	0	5	0	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:3781826G>A	ENST00000262367.5	-	29	5650	c.4841C>T	c.(4840-4842)tCc>tTc	p.S1614F	CREBBP_ENST00000382070.3_Missense_Mutation_p.S1576F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1614	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CAGGTCATTGGACACGTTGGG	0.557			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						19	52					0	0	0	0	A	3781826	G	A	3781826	3	1	226	1	0	0	0	0	1	0	0	0	3891	1174	41	2	2499	2	CREBBP	16	3781826	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	969945	3781826	86572927	231	41345											
CIITA	4261	broad.mit.edu	37	chr16	10995377	10995377	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttctctgcagccttccCagaggagcttccggcagacc	6	11	10	14	1	1	2	0	0	1	2	4	3	3	3	4	2	3	4	4	2	0	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:10995377C>A	ENST00000324288.8	+	6	576	c.443C>A	c.(442-444)cCa>cAa	p.P148Q	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.P148Q	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	148					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCAGCCTTCCCAGAGGAGCTT	0.602			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								12	20					6.72482e-11	8.3518e-11	1	0	A	10995377	C	A	10995377	3	1	226	1	0	0	0	0	1	0	0	0	3457	594	21	4	465	4	CIITA	16	10995377	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	7213551	10995377	79359376	232	41346											
MARVELD3	91862	broad.mit.edu	37	chr16	71668181	71668181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttccacagggggctacacGggcatcaccagcttgggggg	8	6	16	11	1	1	0	1	0	0	0	2	0	2	0	2	6	2	4	2	6	1	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:71668181G>A	ENST00000567501.1	+	3	313	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	MARVELD3_ENST00000268485.3_Silent_p.T227T|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron			Q96A59	MALD3_HUMAN	MARVEL domain containing 3	0	Arg-rich.					integral to membrane		p.T227T(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGGGCTACACGGGCATCACCA	0.557													4	134					0	0	0	0	A	71668181	G	A	71668181	3	1	226	1	0	0	0	0	1	0	0	0	9388	1103	39	1	691	1	MARVELD3	16	71668181	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	60672804	71668181	18686572	233	41347											
CNTNAP4	85445	broad.mit.edu	37	chr16	76389225	76389225	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaataaaaggagctggtggCtggtctccacttgtgtctaa	10	13	11	7	0	2	0	0	0	2	0	3	1	2	1	1	4	1	2	1	4	4	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:76389225C>A	ENST00000307431.8	+	4	589	c.204C>A	c.(202-204)ggC>ggA	p.G68G	CNTNAP4_ENST00000377504.4_Silent_p.G68G|CNTNAP4_ENST00000478060.1_Silent_p.G44G|CNTNAP4_ENST00000476707.1_Silent_p.G72G|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	69	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAGCTGGTGGCTGGTCTCCAC	0.413													6	34					5.4927e-09	6.62912e-09	1	0	A	76389225	C	A	76389225	2	1	226	1	0	0	0	0	0	0	0	1	3679	784	28	4		4	CNTNAP4	16	76389225	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	4721044	76389225	13965528	234	41348											
PLCG2	5336	broad.mit.edu	37	chr16	81942171	81942171	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcgggagagcgagaccttcCccaatgactacaccctgtcc	9	8	9	15	2	0	3	0	1	0	2	3	5	2	3	5	1	2	0	5	1	2	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:81942171C>G	ENST00000359376.3	+	17	1922	c.1708C>G	c.(1708-1710)Ccc>Gcc	p.P570A		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	570	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CGAGACCTTCCCCAATGACTA	0.592													5	6					0	0	0	0	G	81942171	C	G	81942171	3	3	226	1	0	0	0	0	1	0	0	0	12108	623	22	4	1770	4	PLCG2	16	81942171	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	5552946	81942171	8412582	235	41349											
CAMTA2	23125	broad.mit.edu	37	chr17	4883214	4883214	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggtgagggtgggggtGagggagggggtgaaggtatg	7	6	27	1	0	0	3	0	3	0	0	0	4	0	4	0	9	0	2	0	9	2	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:4883214G>T	ENST00000361571.5	-	8	1811	c.1400C>A	c.(1399-1401)tCa>tAa	p.S467*	CAMTA2_ENST00000348066.3_Nonsense_Mutation_p.S468*|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.S468*|CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.S491*|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.S473*|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.S470*	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	468					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						gggtgggggtgagggaggggg	0.612													24	75					4.26978e-12	5.38972e-12	1	0	T	4883214	G	T	4883214	4	4	226	1	0	0	0	0	0	1	0	0	2639	1294	45	2	2315	2	CAMTA2	17	4883214	Nonsense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08		4883214	76311996	236	41350											
PLSCR3	57048	broad.mit.edu	37	chr17	7297016	7297016	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggcgaggggaagagggcGaagccgggagctggggcagg	9	1	23	8	3	0	1	0	0	0	1	0	5	0	3	2	8	2	2	2	8	2	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:7297016G>A	ENST00000535512.1	-	6	1164	c.147C>T	c.(145-147)ttC>ttT	p.F49F	PLSCR3_ENST00000324822.11_Silent_p.F49F|PLSCR3_ENST00000574401.1_Silent_p.F49F|PLSCR3_ENST00000576362.1_Silent_p.F49F|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000576201.1_Silent_p.F49F			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	49					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				GGAAGAGGGCGAAGCCGGGAG	0.711													5	8					0	0	0	0	A	7297016	G	A	7297016	2	1	226	1	0	0	0	0	0	0	0	1	12183	1049	37	1		1	PLSCR3	17	7297016	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	2413802	7297016	73898194	237	41351											
TP53	7157	broad.mit.edu	37	chr17	7577018	7577018	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcttgtcctgcttgcttaCctcgcttagtgctccctggg	2	16	9	14	1	1	0	0	0	1	0	4	0	3	0	3	1	4	4	3	1	2	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:7577018C>A	ENST00000420246.2	-	8	1052		c.e8+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTGCTTACCTCGCTTAGT	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			69	19					3.41413e-29	4.8683e-29	1	0	A	7577018	C	A	7577018	5	1	226	1	0	0	0	0	0	0	1	0	16476	521	18	4	366	4	TP53	17	7577018	Splice_Site	SNP	C	TCGA-CV-5432-01A-02D-1683-08	280002	7577018	73618192	238	41352											
MYH13	8735	broad.mit.edu	37	chr17	10248871	10248871	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgctggttgatgcgggtGaccatccacaggaacatctt	9	10	12	10	1	1	2	0	2	1	0	2	3	2	3	2	3	4	3	2	3	1	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:10248871G>A	ENST00000418404.3	-	13	1489	c.1326C>T	c.(1324-1326)gtC>gtT	p.V442V	MYH13_ENST00000252172.4_Silent_p.V442V|MYH13_ENST00000570743.1_Silent_p.V442V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	442	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGATGCGGGTGACCATCCACA	0.527													46	78					0	0	0	0	A	10248871	G	A	10248871	2	1	226	1	0	0	0	0	0	0	0	1	10102	1277	45	2		2	MYH13	17	10248871	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	2671853	10248871	70946339	239	41353											
DNAH9	1770	broad.mit.edu	37	chr17	11543609	11543609	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctccccggtgcacaagaaCatgcccaccgtggctggcgg	7	7	12	15	3	1	1	0	0	1	1	2	1	1	1	4	4	3	2	4	4	2	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:11543609C>T	ENST00000262442.3	+	10	1877	c.1809C>T	c.(1807-1809)aaC>aaT	p.N603N	DNAH9_ENST00000454412.2_Silent_p.N603N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	603	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCACAAGAACATGCCCACCG	0.602													136	47					0	0	0	0	T	11543609	C	T	11543609	2	4	226	1	0	0	0	0	0	0	0	1	4644	477	17	4		4	DNAH9	17	11543609	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	1294738	11543609	69651601	240	41354											
TEKT3	64518	broad.mit.edu	37	chr17	15215750	15215750	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcccgttcactctgggagcgGagaatattgtcatctgtaaa	10	11	11	9	2	4	1	2	0	2	1	4	3	4	2	1	2	1	2	1	2	4	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:15215750G>C	ENST00000395930.1	-	7	1113	c.927C>G	c.(925-927)ctC>ctG	p.L309L	TEKT3_ENST00000338696.2_Silent_p.L309L	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	309					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCTGGGAGCGGAGAATATTGT	0.463													6	62					0	0	0	0	C	15215750	G	C	15215750	2	2	226	1	0	0	0	0	0	0	0	1	15848	1161	41	2		2	TEKT3	17	15215750	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	3672141	15215750	65979460	241	41355											
LRRC48	83450	broad.mit.edu	37	chr17	17910396	17910396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagctcctggagatctctAtcagcaccctggagaagatt	12	9	10	10	0	2	4	1	0	1	4	4	6	3	4	2	2	2	2	2	2	3	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:17910396A>G	ENST00000313838.8	+	13	1640	c.1261A>G	c.(1261-1263)Atc>Gtc	p.I421V	LRRC48_ENST00000399187.1_Missense_Mutation_p.I421V|LRRC48_ENST00000399182.1_Missense_Mutation_p.I421V|LRRC48_ENST00000584166.1_Missense_Mutation_p.I421V|LRRC48_ENST00000411504.2_Missense_Mutation_p.I421V	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	421						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GGAGATCTCTATCAGCACCCT	0.647													10	14					0	0	0	0	G	17910396	A	G	17910396	3	3	226	1	0	0	0	0	1	0	0	0	9069	449	16	5	1299	5	LRRC48	17	17910396	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	2694646	17910396	63284814	242	41356											
SPAG5	10615	broad.mit.edu	37	chr17	26906469	26906469	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcagtagtcataatactCatttctgccaggctctcctc	9	13	6	13	0	5	0	3	0	2	0	7	0	5	0	2	1	3	3	2	1	3	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:26906469C>A	ENST00000321765.5	-	18	3251	c.2919G>T	c.(2917-2919)atG>atT	p.M973I		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	973					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCATAATACTCATTTCTGCCA	0.488													59	69					5.86059e-21	8.05831e-21	1	0	A	26906469	C	A	26906469	3	1	226	1	0	0	0	0	1	0	0	0	15071	826	29	2	690	2	SPAG5	17	26906469	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	8996073	26906469	54288741	243	41357											
SOCS7	30837	broad.mit.edu	37	chr17	36520668	36520668	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttgtggatgtggacatttCtcagcggggcctgacctctc	5	12	13	11	1	2	1	1	1	2	0	4	3	2	3	2	4	1	1	2	4	0	2	rs77546775		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:36520668C>G	ENST00000577233.1	+	3	887	c.887C>G	c.(886-888)tCt>tGt	p.S296C	SOCS7_ENST00000331159.5_Missense_Mutation_p.S296C	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	296	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GTGGACATTTCTCAGCGGGGC	0.542													12	63					0	0	0	0	G	36520668	C	G	36520668	3	3	226	1	0	0	0	0	1	0	0	0	15007	913	32	2	897	2	SOCS7	17	36520668	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	9614199	36520668	44674542	244	41358											
CDK12	51755	broad.mit.edu	37	chr17	37687138	37687138	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgatgggcctgaaacagggTtcagtgccattgacactgat	10	10	12	9	0	1	4	1	4	0	0	1	4	1	4	2	2	2	1	2	2	1	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:37687138T>C	ENST00000447079.4	+	14	4075	c.4042T>C	c.(4042-4044)Ttc>Ctc	p.F1348L	CDK12_ENST00000430627.2_Missense_Mutation_p.F1339L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1348					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGAAACAGGGTTCAGTGCCAT	0.542			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			10	222					0	0	0	0	C	37687138	T	C	37687138	3	2	226	1	0	0	0	0	1	0	0	0	3157	1725	60	5	4096	5	CDK12	17	37687138	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	1166470	37687138	43508072	245	41359											
KRTAP1-3	81850	broad.mit.edu	37	chr17	39190615	39190615	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagactgggcggcaGcaggactgtccacagtagga	11	4	15	11	1	0	1	0	0	0	1	1	3	1	3	1	4	3	5	1	4	1	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:39190615G>A	ENST00000344363.5	-	1	492	c.459C>T	c.(457-459)tgC>tgT	p.C153C		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	163						extracellular region|keratin filament	structural constituent of epidermis	p.C153C(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGGCGGCAGCAGGACTGTC	0.577													11	32					0	0	0	0	A	39190615	G	A	39190615	2	1	226	1	0	0	0	0	0	0	0	1	8555	963	34	4		4	KRTAP1-3	17	39190615	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1503477	39190615	42004595	246	41360											
EZH1	2145	broad.mit.edu	37	chr17	40858050	40858050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagtccacgctggatgctgCagtttttacaggaaaccacc	11	10	9	11	1	0	0	0	0	0	0	1	2	1	2	3	2	4	4	3	2	3	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:40858050C>A	ENST00000428826.2	-	16	1935	c.1814G>T	c.(1813-1815)tGc>tTc	p.C605F	EZH1_ENST00000592743.1_Missense_Mutation_p.C605F|EZH1_ENST00000435174.1_Missense_Mutation_p.C466F|EZH1_ENST00000415827.2_Missense_Mutation_p.C596F|EZH1_ENST00000590078.1_Missense_Mutation_p.C535F|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000585893.1_Missense_Mutation_p.C565F			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	605	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTGGATGCTGCAGTTTTTACA	0.537													6	12					0.00116845	0.00121581	1	0	A	40858050	C	A	40858050	3	1	226	1	0	0	0	0	1	0	0	0	5371	710	25	4	453	4	EZH1	17	40858050	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	1667435	40858050	40337160	247	41361											
OSBPL7	114881	broad.mit.edu	37	chr17	45891043	45891043	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgctgcagagtgttgagCggctcgttgagctgcacagg	7	8	16	10	3	0	3	0	2	0	1	1	3	0	3	1	2	5	7	1	2	0	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:45891043C>A	ENST00000007414.3	-	15	1700	c.1509G>T	c.(1507-1509)ccG>ccT	p.P503P	OSBPL7_ENST00000392507.3_Silent_p.P503P	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	503					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GAGTGTTGAGCGGCTCGTTGA	0.632													12	39					0.0167234	0.0172152	1	0	A	45891043	C	A	45891043	2	1	226	1	0	0	0	0	0	0	0	1	11353	755	27	3		3	OSBPL7	17	45891043	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	5032993	45891043	35304167	248	41362											
EPN3	55040	broad.mit.edu	37	chr17	48618421	48618421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagacctccgacacacCtggtaagaagagggccagag	12	4	13	12	1	0	4	0	0	0	4	1	6	1	4	5	3	0	1	5	3	2	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:48618421C>G	ENST00000268933.3	+	7	1826	c.1247C>G	c.(1246-1248)cCt>cGt	p.P416R	EPN3_ENST00000541226.1_3'UTR|EPN3_ENST00000537145.1_Missense_Mutation_p.P444R	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	416						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TCCGACACACCTGGTAAGAAG	0.627													4	33					0	0	0	0	G	48618421	C	G	48618421	3	3	226	1	0	0	0	0	1	0	0	0	5225	681	24	4	1269	4	EPN3	17	48618421	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	2727378	48618421	32576789	249	41363											
ABCA6	23460	broad.mit.edu	37	chr17	67124870	67124870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccagacatccccaaaagaGggtaaggagaaacacaacca	18	3	8	12	0	0	3	0	0	0	3	2	4	2	3	4	2	2	1	4	2	5	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:67124870G>T	ENST00000284425.2	-	8	1183	c.1009C>A	c.(1009-1011)Ctc>Atc	p.L337I		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	337					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCCCAAAAGAGGGTAAGGAGA	0.423													11	63					2.80697e-09	3.41989e-09	1	0	T	67124870	G	T	67124870	3	4	226	1	0	0	0	0	1	0	0	0	36	1000	35	4	3972	4	ABCA6	17	67124870	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	18506449	67124870	14070340	250	41364											
C17orf77	146723	broad.mit.edu	37	chr17	72588683	72588683	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccaagcattgaggagctgCgggatctactgcctggagga	10	7	14	10	1	1	1	0	1	1	0	1	5	1	5	2	4	5	2	2	4	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:72588683C>T	ENST00000392620.1	+	3	860	c.498C>T	c.(496-498)tgC>tgT	p.C166C	C17orf77_ENST00000328023.2_Silent_p.C166C	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	166						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TGAGGAGCTGCGGGATCTACT	0.587													8	29					0	0	0	0	T	72588683	C	T	72588683	2	4	226	1	0	0	0	0	0	0	0	1	1898	776	27	1		1	C17orf77	17	72588683	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	5463813	72588683	8606527	251	41365											
ENGASE	64772	broad.mit.edu	37	chr17	77078233	77078233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accttccattcccgtctgcaCctcaaaggaatgacagcagc	11	8	7	15	1	2	1	1	1	1	0	4	2	4	2	4	1	3	2	4	1	2	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:77078233C>G	ENST00000539857.2	+	6	983	c.568C>G	c.(568-570)Cct>Gct	p.P190A	ENGASE_ENST00000579016.1_Intron|ENGASE_ENST00000584568.1_Intron			Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	0						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCCGTCTGCACCTCAAAGGAA	0.602													5	13					0	0	0	0	G	77078233	C	G	77078233	3	3	226	1	0	0	0	0	1	0	0	0	5156	522	18	4		4	ENGASE	17	77078233	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	4489550	77078233	4116977	252	41366											
SLC26A11	284129	broad.mit.edu	37	chr17	78219976	78219976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccgtgaacgctcagtcggGggtgtgcaccccggcggggg	5	5	19	12	5	1	1	1	1	0	0	2	1	1	1	3	5	3	2	3	5	1	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:78219976G>T	ENST00000361193.3	+	12	1401	c.1121G>T	c.(1120-1122)gGg>gTg	p.G374V	SLC26A11_ENST00000572725.1_Missense_Mutation_p.G374V|SLC26A11_ENST00000411502.3_Missense_Mutation_p.G374V|SLC26A11_ENST00000546047.2_Missense_Mutation_p.G374V	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	374						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTCAGTCGGGGGTGTGCACC	0.667													22	102					3.6726e-16	4.89257e-16	1	0	T	78219976	G	T	78219976	3	4	226	1	0	0	0	0	1	0	0	0	14604	1232	43	4	1159	4	SLC26A11	17	78219976	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1141743	78219976	2975234	253	41367											
MYOM1	8736	broad.mit.edu	37	chr18	3215034	3215034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggaggaggcggacgccCgacggaaggcctcggactcc	8	2	19	12	5	0	0	0	0	0	0	2	7	1	6	3	8	0	0	3	8	1	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:3215034C>T	ENST00000400569.3	-	2	521	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	MYOM1_ENST00000261606.7_Missense_Mutation_p.R63Q|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000356443.4_Missense_Mutation_p.R63Q			P52179	MYOM1_HUMAN	myomesin 1	63						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGCGGACGCCCGACGGAAGGC	0.687													9	38					0	0	0	0	T	3215034	C	T	3215034	3	4	226	1	0	0	0	0	1	0	0	0	10161	652	23	1	5017	1	MYOM1	18	3215034	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08		3215034	74862214	254	41368											
NAPG	8774	broad.mit.edu	37	chr18	10540342	10540342	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcagaatgaagaacgcttacGacaggcagttgaattactag	15	9	10	7	2	1	4	1	2	0	2	1	5	1	4	0	1	3	3	0	1	7	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:10540342G>C	ENST00000322897.6	+	8	521	c.452G>C	c.(451-453)cGa>cCa	p.R151P	NAPG_ENST00000542979.1_Missense_Mutation_p.R69P	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	151					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						GAACGCTTACGACAGGCAGTT	0.338													26	38					0	0	0	0	C	10540342	G	C	10540342	3	2	226	1	0	0	0	0	1	0	0	0	10234	1058	37	3	482	3	NAPG	18	10540342	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	7325308	10540342	67536906	255	41369											
DSG3	1830	broad.mit.edu	37	chr18	29054239	29054239	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggattcggagcagccActggagttggcatctgttcc	7	11	12	11	1	2	0	1	0	1	0	4	3	3	3	2	4	2	4	2	4	0	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:29054239A>T	ENST00000257189.4	+	15	2340	c.2257A>T	c.(2257-2259)Act>Tct	p.T753S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	753					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGGAGCAGCCACTGGAGTTGG	0.537													47	47					0	0	0	0	T	29054239	A	T	29054239	3	4	226	1	0	0	0	0	1	0	0	0	4814	159	6	5	2315	5	DSG3	18	29054239	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	18513897	29054239	49023009	256	41370											
KIAA1328	57536	broad.mit.edu	37	chr18	34415329	34415329	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaggcacaggagattcagTagatgaacaggttagtattt	16	10	11	4	0	1	3	1	1	0	2	1	4	1	3	0	3	1	4	0	3	6	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:34415329T>C	ENST00000591619.1	+	3	1001	c.215T>C	c.(214-216)gTa>gCa	p.V72A	KIAA1328_ENST00000280020.5_Missense_Mutation_p.V76A|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000592521.1_Missense_Mutation_p.V76A|KIAA1328_ENST00000543923.1_5'UTR			Q86T90	K1328_HUMAN	KIAA1328	76										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGAGATTCAGTAGATGAACAG	0.393													9	195					0	0	0	0	C	34415329	T	C	34415329	3	2	226	1	0	0	0	0	1	0	0	0	8276	1638	57	5	237	5	KIAA1328	18	34415329	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	5361090	34415329	43661919	257	41371											
KIAA1328	57536	broad.mit.edu	37	chr18	34647234	34647234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcgtgttcatgacagccatCctacaaacatgacccctcaa	13	9	5	14	1	2	2	2	2	0	0	4	2	3	2	4	0	3	1	4	0	3	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:34647234C>T	ENST00000591619.1	+	7	1732	c.946C>T	c.(946-948)Cct>Tct	p.P316S	KIAA1328_ENST00000280020.5_Missense_Mutation_p.P320S|KIAA1328_ENST00000435985.2_Missense_Mutation_p.P36S|KIAA1328_ENST00000543923.1_Missense_Mutation_p.P212S|KIAA1328_ENST00000586501.1_Missense_Mutation_p.P36S|KIAA1328_ENST00000586135.1_Missense_Mutation_p.P36S			Q86T90	K1328_HUMAN	KIAA1328	320										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TGACAGCCATCCTACAAACAT	0.473													12	65					0	0	0	0	T	34647234	C	T	34647234	3	4	226	1	0	0	0	0	1	0	0	0	8276	855	30	2	984	2	KIAA1328	18	34647234	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	231905	34647234	43430014	258	41372											
SYT4	6860	broad.mit.edu	37	chr18	40853629	40853629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagagaggaattagaacttcCccaatgatatcatctcttga	14	11	8	8	0	2	4	1	2	1	2	4	7	3	5	2	1	1	0	2	1	5	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:40853629C>T	ENST00000255224.3	-	2	1133	c.765G>A	c.(763-765)ggG>ggA	p.G255G	SYT4_ENST00000590752.1_Silent_p.G237G|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	255	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTAGAACTTCCCCAATGATAT	0.353													23	12					0	0	0	0	T	40853629	C	T	40853629	2	4	226	1	0	0	0	0	0	0	0	1	15567	610	22	4		4	SYT4	18	40853629	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	6206395	40853629	37223619	259	41373											
KATNAL2	83473	broad.mit.edu	37	chr18	44579299	44579299	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagaaactaaactggggttAcgacggtttgaagtttgtga	13	11	12	5	2	0	3	0	2	0	1	0	4	0	3	0	3	3	3	0	3	6	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:44579299A>T	ENST00000245121.5	+	0	149				KATNAL2_ENST00000356157.7_Missense_Mutation_p.L57F|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2							cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AACTGGGGTTACGACGGTTTG	0.323													30	17					0	0	0	0	T	44579299	A	T	44579299	1	4	226	1	0	0	0	0	0	0	0	0	8039	406	14	5		5	KATNAL2	18	44579299	Translation_Start_Site	SNP	A	TCGA-CV-5432-01A-02D-1683-08	3725670	44579299	33497949	260	41374											
APBA3	9546	broad.mit.edu	37	chr19	3752611	3752611	+	Frame_Shift_Del	DEL	C	C	-																															gcccccgagcgctcagcaggCcccccgtgcagcaggttggc																										TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:3752611delC	ENST00000316757.3	-	8	1490	c.1290delG	c.(1288-1290)ggfs	p.G430fs		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	430	PDZ 1.				intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCAGCAGGCCCCCCGTGCA	0.746													11	4	---	---	---	---					-	3752611	C	-	3752611	7	5	226	1	0	1	0	1	0	0	0	0	759	726	26	0	453	0	APBA3	19	3752611	Frame_Shift_Del	DEL	C	TCGA-CV-5432-01A-02D-1683-08		3752611	55376372	261	41375											
RFX2	5990	broad.mit.edu	37	chr19	6008155	6008155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagctgcagggccttgaCgtcgtgcagtgtgacgccgt	6	8	14	13	4	0	2	0	2	0	0	1	2	0	2	3	1	3	3	3	1	0	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:6008155C>T	ENST00000303657.5	-	10	1245	c.1096G>A	c.(1096-1098)Gtc>Atc	p.V366I	RFX2_ENST00000359161.3_Missense_Mutation_p.V366I|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.V341I	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGGGCCTTGACGTCGTGCAGT	0.682													4	3					0	0	0	0	T	6008155	C	T	6008155	3	4	226	1	0	0	0	0	1	0	0	0	13345	536	19	1	1111	1	RFX2	19	6008155	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	2255544	6008155	53120828	262	41376											
C19orf59	199675	broad.mit.edu	37	chr19	7743860	7743860	+	Frame_Shift_Del	DEL	A	A	-																															aaatcttggaggtgctgcagAaaatgccacgtaagttggcg																										TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:7743860delA	ENST00000333598.3	+	6	992	c.538delA	c.(538-540)aafs	p.K180fs	CTD-3214H19.16_ENST00000597959.1_Frame_Shift_Del_p.E52fs|C19orf59_ENST00000597445.1_Frame_Shift_Del_p.K137fs	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN	chromosome 19 open reading frame 59	180						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						GGTGCTGCAGAAAATGCCACG	0.577											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					-	7743860	A	-	7743860	7	5	226	1	0	1	0	1	0	0	0	0	1958	247	9	0	560	0	C19orf59	19	7743860	Frame_Shift_Del	DEL	A	TCGA-CV-5432-01A-02D-1683-08	1735705	7743860	51385123	263	41377											
MUC16	94025	broad.mit.edu	37	chr19	9062481	9062481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctgctcaaatttgaaGtggaactggttccaggttct	9	13	12	7	0	2	1	1	1	1	0	3	2	3	2	1	4	3	4	1	4	3	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:9062481G>T	ENST00000397910.4	-	3	25168	c.24965C>A	c.(24964-24966)aCt>aAt	p.T8322N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8324	Ser-rich.|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						CAAATTTGAAGTGGAACTGGT	0.502													17	69					1.15088e-07	1.35501e-07	1	0	T	9062481	G	T	9062481	3	4	226	1	0	0	0	0	1	0	0	0	10043	1029	36	4	18886	4	MUC16	19	9062481	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1318621	9062481	50066502	264	41378											
COL5A3	50509	broad.mit.edu	37	chr19	10107183	10107183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctttaaaggagccgcctgCaaactggaactgggaggaat	12	7	13	9	1	0	0	0	0	0	0	0	4	0	4	3	4	4	1	3	4	5	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:10107183C>A	ENST00000264828.3	-	13	1433	c.1348G>T	c.(1348-1350)Gca>Tca	p.A450S	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	450	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAGCCGCCTGCAAACTGGAAC	0.612													8	33					5.18039e-06	5.78102e-06	1	0	A	10107183	C	A	10107183	3	1	226	1	0	0	0	0	1	0	0	0	3728	710	25	4	4109	4	COL5A3	19	10107183	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	1044702	10107183	49021800	265	41379											
OR7A17	26333	broad.mit.edu	37	chr19	14991735	14991735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatcatccaggatgccagaaCcaggagtccacagagccgag	14	4	11	12	1	1	2	1	0	0	2	3	5	3	4	5	2	3	0	5	2	2	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:14991735C>A	ENST00000327462.2	-	1	529	c.433G>T	c.(433-435)Gtt>Ttt	p.V145F		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GATGCCAGAACCAGGAGTCCA	0.502													22	42					2.89027e-11	3.6246e-11	1	0	A	14991735	C	A	14991735	3	1	226	1	0	0	0	0	1	0	0	0	11286	507	18	4	498	4	OR7A17	19	14991735	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	4884552	14991735	44137248	266	41380											
ZNF536	9745	broad.mit.edu	37	chr19	30935052	30935052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcgtgggcgtgtgcgcgagGagaaccgcctgctgcacgag	6	5	19	11	6	0	1	0	0	0	1	0	4	0	1	2	3	4	2	2	3	1	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:30935052G>A	ENST00000355537.3	+	2	730	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGTGCGCGAGGAGAACCGCCT	0.692													10	13					0	0	0	0	A	30935052	G	A	30935052	3	1	226	1	0	0	0	0	1	0	0	0	18069	1175	41	2	585	2	ZNF536	19	30935052	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	15943317	30935052	28193931	267	41381											
SAMD4B	55095	broad.mit.edu	37	chr19	39868430	39868430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgtcgccgacggagaCatccccagccagtttacacg	8	6	10	17	5	0	1	0	0	0	1	3	3	2	1	5	1	2	2	5	1	1	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:39868430C>A	ENST00000314471.6	+	10	2445	c.1410C>A	c.(1408-1410)gaC>gaA	p.D470E	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.D470E	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	470							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCGACGGAGACATCCCCAGCC	0.622													3	27					0.115264	0.117399	1	0	A	39868430	C	A	39868430	3	1	226	1	0	0	0	0	1	0	0	0	13907	477	17	4	1432	4	SAMD4B	19	39868430	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	8933378	39868430	19260553	268	41382											
MEGF8	1954	broad.mit.edu	37	chr19	42863326	42863326	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggggcgctcggaccctgAcgagttcagcagcgacgttc	6	7	16	12	5	1	1	1	1	0	0	3	4	1	2	1	4	2	4	1	4	0	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:42863326A>T	ENST00000334370.4	+	30	5854	c.5219A>T	c.(5218-5220)gAc>gTc	p.D1740V	MEGF8_ENST00000251268.6_Missense_Mutation_p.D1807V	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1807						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCGGACCCTGACGAGTTCAGC	0.652													5	6					0	0	0	0	T	42863326	A	T	42863326	3	4	226	1	0	0	0	0	1	0	0	0	9532	275	10	5	5337	5	MEGF8	19	42863326	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	2994896	42863326	16265657	269	41383											
PSG2	5670	broad.mit.edu	37	chr19	43585341	43585341	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggaaacttttggtggcTgggcttcaatcgtgacttgg	6	13	13	9	2	1	1	1	1	0	0	3	2	1	2	1	5	1	2	1	5	2	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:43585341T>A	ENST00000406487.1	-	2	220	c.122A>T	c.(121-123)cAg>cTg	p.Q41L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	41	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTTTGGTGGCTGGGCTTCAAT	0.478													44	79					0	0	0	0	A	43585341	T	A	43585341	3	1	226	1	0	0	0	0	1	0	0	0	12734	1580	55	5	901	5	PSG2	19	43585341	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	722015	43585341	15543642	270	41384											
CCDC9	26093	broad.mit.edu	37	chr19	47761913	47761913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgaggccctcatccggcGctaccaggtgccctagcccc	7	6	11	17	2	1	1	1	1	0	0	2	2	2	1	6	3	3	1	6	3	3	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:47761913G>T	ENST00000221922.6	+	3	323	c.101G>T	c.(100-102)cGc>cTc	p.R34L		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	34										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CTCATCCGGCGCTACCAGGTG	0.567													10	27					9.70103e-10	1.19326e-09	1	0	T	47761913	G	T	47761913	3	4	226	1	0	0	0	0	1	0	0	0	2894	1087	38	3	107	3	CCDC9	19	47761913	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	4176572	47761913	11367070	271	41385											
PLA2G4C	8605	broad.mit.edu	37	chr19	48607867	48607867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggatccagagacccctgCgaggtacgtgacggcatcca	10	6	13	12	3	0	2	0	1	0	1	2	5	2	3	4	3	2	2	4	3	1	1	rs138956741	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:48607867C>A	ENST00000354276.3	-	4	562	c.235G>T	c.(235-237)Gca>Tca	p.A79S	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A89S|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.A79S|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A79S	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	79	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.A79T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAGACCCCTGCGAGGTACGTG	0.517													14	40					7.05477e-17	9.46371e-17	1	0	A	48607867	C	A	48607867	3	1	226	1	0	0	0	0	1	0	0	0	12075	768	27	3	1450	3	PLA2G4C	19	48607867	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	845954	48607867	10521116	272	41386											
AP2A1	160	broad.mit.edu	37	chr19	50306435	50306435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagtcaagtcagagttccGacagaacctgggtgtgtccc	9	8	13	11	2	2	2	2	0	0	2	4	4	4	3	3	2	1	1	3	2	2	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:50306435G>T	ENST00000354293.5	+	17	2409	c.2243G>T	c.(2242-2244)cGa>cTa	p.R748L	AP2A1_ENST00000359032.5_Missense_Mutation_p.R770L	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	770					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TCAGAGTTCCGACAGAACCTG	0.617													13	28					2.32078e-09	2.84555e-09	1	0	T	50306435	G	T	50306435	3	4	226	1	0	0	0	0	1	0	0	0	740	1058	37	3	2379	3	AP2A1	19	50306435	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1698568	50306435	8822548	273	41387											
ZNF528	84436	broad.mit.edu	37	chr19	52905281	52905281	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaatggcccttactcaGgtaaggtaatgttctcagtg	10	12	11	8	0	3	0	3	0	1	0	4	1	3	1	1	4	1	3	1	4	4	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:52905281G>A	ENST00000360465.3	+	4	441	c.15_splice	c.e4+1	p.Q5_splice	ZNF528_ENST00000391788.2_5'UTR|ZNF528_ENST00000594530.1_Splice_Site_p.Q5_splice|ZNF528_ENST00000598192.1_Splice_Site_p.Q5_splice	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CCCTTACTCAGGTAAGGTAAT	0.418													5	26					0	0	0	0	A	52905281	G	A	52905281	5	1	226	1	0	0	0	0	0	0	1	0	18064	1014	35	4	17	4	ZNF528	19	52905281	Splice_Site	SNP	G	TCGA-CV-5432-01A-02D-1683-08	2598846	52905281	6223702	274	41388											
LILRA1	11024	broad.mit.edu	37	chr19	55107222	55107222	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatttgttctgtataaggaGggagaacgtgacttcctcca	11	12	11	7	1	1	3	0	1	1	2	3	5	3	4	2	2	1	2	2	2	3	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:55107222G>A	ENST00000251372.3	+	6	962	c.780G>A	c.(778-780)gaG>gaA	p.E260E	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	260	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGTATAAGGAGGGAGAACGTG	0.617													25	66					0	0	0	0	A	55107222	G	A	55107222	2	1	226	1	0	0	0	0	0	0	0	1	8838	991	35	4		4	LILRA1	19	55107222	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	2201941	55107222	4021761	275	41389											
KIR2DL1	3802	broad.mit.edu	37	chr19	55285082	55285082	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctctggacatcgtgatcaTaggtgagagtgtccagactt	9	11	11	10	1	2	3	1	2	1	2	4	5	3	4	2	2	0	0	2	2	1	2	rs80323556	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:55285082T>A	ENST00000336077.6	+	3	408	c.368T>A	c.(367-369)aTa>aAa	p.I123K	KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.I123K|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	123					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ATCGTGATCATAGGTGAGAGT	0.512													48	119					0	0	0	0	A	55285082	T	A	55285082	3	1	226	1	0	0	0	0	1	0	0	0	8368	1406	49	5	378	5	KIR2DL1	19	55285082	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	177860	55285082	3843901	276	41390											
NLRP13	126204	broad.mit.edu	37	chr19	56423633	56423633	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgaagaatattgaactcgTagagagaatcaatgaaaggc	17	10	10	4	1	1	6	1	3	0	3	2	7	1	6	0	1	1	1	0	1	8	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:56423633T>C	ENST00000588751.1	-	5	1574	c.1550A>G	c.(1549-1551)tAc>tGc	p.Y517C	NLRP13_ENST00000342929.3_Missense_Mutation_p.Y517C			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	517	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATTGAACTCGTAGAGAGAATC	0.448													14	25					0	0	0	0	C	56423633	T	C	56423633	3	2	226	1	0	0	0	0	1	0	0	0	10545	1638	57	5	1607	5	NLRP13	19	56423633	Missense_Mutation	SNP	T	TCGA-CV-5432-01A-02D-1683-08	1138551	56423633	2705350	277	41391											
NLRP8	126205	broad.mit.edu	37	chr19	56485041	56485041	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaactgcaaccttacacAgcttacttgtgaaagccttg	13	10	8	10	0	0	2	0	1	0	1	0	3	0	2	2	0	7	2	2	0	5	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:56485041A>T	ENST00000291971.3	+	7	2629	c.2558A>T	c.(2557-2559)cAg>cTg	p.Q853L	NLRP8_ENST00000590542.1_Intron	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	853						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AACCTTACACAGCTTACTTGT	0.498													45	112					0	0	0	0	T	56485041	A	T	56485041	3	4	226	1	0	0	0	0	1	0	0	0	10553	188	7	5	2584	5	NLRP8	19	56485041	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	61408	56485041	2643942	278	41392											
ZNF304	57343	broad.mit.edu	37	chr19	57868528	57868528	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggaaaattctttagccatAactctagcctcattaaacat	14	13	5	9	0	3	0	1	0	2	0	3	1	3	1	2	1	4	0	2	1	7	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:57868528A>T	ENST00000391705.3	+	4	1575	c.1291A>T	c.(1291-1293)Aac>Tac	p.N431Y	ZNF304_ENST00000598744.1_Missense_Mutation_p.N389Y|ZNF304_ENST00000282286.5_Missense_Mutation_p.N431Y|ZNF304_ENST00000443917.2_Missense_Mutation_p.N478Y	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	431					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)		CTTTAGCCATAACTCTAGCCT	0.453													11	26					0	0	0	0	T	57868528	A	T	57868528	3	4	226	1	0	0	0	0	1	0	0	0	17928	362	13	5	1301	5	ZNF304	19	57868528	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	1383487	57868528	1260455	279	41393											
ZNF419	79744	broad.mit.edu	37	chr19	58001541	58001541	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgcagacttgcttacAgaccatgaggaggtaagtgg	10	9	15	7	0	0	3	0	1	0	2	0	4	0	4	1	4	3	4	1	4	2	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58001541A>C	ENST00000424930.2	+	2	289	c.60A>C	c.(58-60)acA>acC	p.T20T	ZNF419_ENST00000415379.2_Intron|ZNF419_ENST00000518999.1_Silent_p.T20T|ZNF419_ENST00000520540.1_Intron|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000426954.2_Intron|ZNF419_ENST00000347466.6_Silent_p.T20T|ZNF419_ENST00000442920.2_Intron|ZNF419_ENST00000221735.7_Silent_p.T20T	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		ACTTGCTTACAGACCATGAGG	0.498													10	21					0	0	0	0	C	58001541	A	C	58001541	2	2	226	1	0	0	0	0	0	0	0	1	17991	175	7	5		5	ZNF419	19	58001541	Silent	SNP	A	TCGA-CV-5432-01A-02D-1683-08	133013	58001541	1127442	280	41394											
ZNF132	7691	broad.mit.edu	37	chr19	58945609	58945609	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgactgcactcataaggtCttacctgtgtgtgaactttc	9	15	8	9	0	2	2	1	2	1	0	3	2	2	2	1	1	3	1	1	1	3	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945609C>G	ENST00000254166.3	-	3	1602	c.1202G>C	c.(1201-1203)aGa>aCa	p.R401T		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	401						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CTCATAAGGTCTTACCTGTGT	0.473													17	55					0	0	0	0	G	58945609	C	G	58945609	3	3	226	1	0	0	0	0	1	0	0	0	17817	913	32	2	922	2	ZNF132	19	58945609	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	944068	58945609	183374	281	41395			1	61		5	5	420	C		1.285224e-11
ZNF132	7691	broad.mit.edu	37	chr19	58945629	58945629	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttacctgtgtgtgaactttCtgatgccgaaggaaattgga	10	13	11	7	1	1	2	0	2	1	0	1	5	1	4	2	2	3	0	2	2	4	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945629C>G	ENST00000254166.3	-	3	1582	c.1182G>C	c.(1180-1182)caG>caC	p.Q394H		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	394						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TGTGAACTTTCTGATGCCGAA	0.478													17	55					0	0	0	0	G	58945629	C	G	58945629	3	3	226	1	0	0	0	0	1	0	0	0	17817	912	32	2	942	2	ZNF132	19	58945629	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	20	58945629	183354	282	41396			1	61		5	5	420	C		1.285224e-11
ZNF132	7691	broad.mit.edu	37	chr19	58945685	58945685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttccacatttcaggcactCaaaaggcctttctccagtgt	9	13	6	13	0	4	0	2	0	2	0	6	0	5	0	3	2	0	1	3	2	2	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945685C>G	ENST00000254166.3	-	3	1526	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	376						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTCAGGCACTCAAAAGGCCTT	0.458													14	40					0	0	0	0	G	58945685	C	G	58945685	3	3	226	1	0	0	0	0	1	0	0	0	17817	835	29	2	998	2	ZNF132	19	58945685	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	56	58945685	183298	283	41397			1	61		5	5	420	C		1.285224e-11
ZNF132	7691	broad.mit.edu	37	chr19	58945763	58945763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctttcccacattcatCacactcataaggtctttctc	10	13	5	13	0	5	0	3	0	2	0	7	1	6	0	1	2	0	1	1	2	2	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945763C>A	ENST00000254166.3	-	3	1448	c.1048G>T	c.(1048-1050)Gat>Tat	p.D350Y		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	350						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCACATTCATCACACTCATAA	0.418													12	50					3.07112e-06	3.46739e-06	1	0	A	58945763	C	A	58945763	3	1	226	1	0	0	0	0	1	0	0	0	17817	826	29	2	1076	2	ZNF132	19	58945763	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	78	58945763	183220	284	41398			1	61		5	5	420	C		1.285224e-11
ZNF132	7691	broad.mit.edu	37	chr19	58946028	58946028	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgggcatgtaaatggtatCtcttcagagtgagttctcag	9	14	12	6	0	3	2	2	1	2	1	5	2	3	2	0	2	0	5	0	2	3	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58946028C>G	ENST00000254166.3	-	3	1183	c.783G>C	c.(781-783)gaG>gaC	p.E261D		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	261						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TAAATGGTATCTCTTCAGAGT	0.443													16	83					0	0	0	0	G	58946028	C	G	58946028	3	3	226	1	0	0	0	0	1	0	0	0	17817	912	32	2	1341	2	ZNF132	19	58946028	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	265	58946028	182955	285	41399			1	61		5	5	420	C		1.285224e-11
SNPH	9751	broad.mit.edu	37	chr20	1285749	1285749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaacaagaagctggagaCgctgctgcacagcatggagg	13	4	14	10	1	0	3	0	0	0	3	0	5	0	4	1	3	5	5	1	3	3	0	rs144660706		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:1285749C>T	ENST00000381867.1	+	7	1310	c.668C>T	c.(667-669)aCg>aTg	p.T223M	SNPH_ENST00000381873.3_Missense_Mutation_p.T179M			O15079	SNPH_HUMAN	syntaphilin	179					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAGCTGGAGACGCTGCTGCAC	0.587													11	30					0	0	0	0	T	1285749	C	T	1285749	3	4	226	1	0	0	0	0	1	0	0	0	14938	536	19	1	550	1	SNPH	20	1285749	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08		1285749	61739771	286	41400											
MACROD2	140733	broad.mit.edu	37	chr20	14066362	14066362	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgctagaggtagatgctAtagtcaatgccggtgagtag	11	11	13	6	1	1	3	1	1	0	2	1	3	1	3	1	2	3	4	1	2	6	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:14066362A>G	ENST00000217246.4	+	3	654	c.259A>G	c.(259-261)Ata>Gta	p.I87V	MACROD2_ENST00000310348.4_Missense_Mutation_p.I87V	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	87	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGTAGATGCTATAGTCAATGC	0.313													6	25					0	0	0	0	G	14066362	A	G	14066362	3	3	226	1	0	0	0	0	1	0	0	0	9211	449	16	5	269	5	MACROD2	20	14066362	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	12780613	14066362	48959158	287	41401											
RRBP1	6238	broad.mit.edu	37	chr20	17600950	17600950	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagcacatacctggtcCgaactttcaagttctccttt	10	12	7	12	1	2	1	1	0	1	1	4	2	3	1	3	1	4	3	3	1	3	4	rs138279227		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:17600950C>T	ENST00000377813.1	-	18	3876	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S	RRBP1_ENST00000246043.4_Silent_p.S1191S|RRBP1_ENST00000360807.4_Silent_p.S758S|RRBP1_ENST00000377807.2_Silent_p.S758S|RRBP1_ENST00000455029.2_Silent_p.S532S			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1191					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	p.S1191S(1)|p.S758S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ATACCTGGTCCGAACTTTCAA	0.488													27	85					0	0	0	0	T	17600950	C	T	17600950	2	4	226	1	0	0	0	0	0	0	0	1	13763	639	23	1		1	RRBP1	20	17600950	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	3534588	17600950	45424570	288	41402											
PAX1	5075	broad.mit.edu	37	chr20	21687085	21687085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcatccgcagagcagacgtAtggcgaggtgaaccagctgg	10	5	15	11	4	0	3	0	1	0	2	1	4	1	3	2	3	3	5	2	3	2	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:21687085A>G	ENST00000398485.2	+	2	350	c.296A>G	c.(295-297)tAt>tGt	p.Y99C	PAX1_ENST00000444366.2_Missense_Mutation_p.Y75C|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	99	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GAGCAGACGTATGGCGAGGTG	0.672													12	34					0	0	0	0	G	21687085	A	G	21687085	3	3	226	1	0	0	0	0	1	0	0	0	11549	449	16	5	302	5	PAX1	20	21687085	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	4086135	21687085	41338435	289	41403											
TRPC4AP	26133	broad.mit.edu	37	chr20	33609096	33609096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgactggggcagctgggttCtggctgacgtgtgaggcagg	5	10	19	7	1	1	3	0	3	1	0	1	3	1	3	0	6	1	5	0	6	0	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:33609096C>T	ENST00000252015.2	-	9	1204	c.1115G>A	c.(1114-1116)aGa>aAa	p.R372K	TRPC4AP_ENST00000451813.1_Missense_Mutation_p.R364K|TRPC4AP_ENST00000539834.1_Intron|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R333K			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	372	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CAGCTGGGTTCTGGCTGACGT	0.552													13	31					0	0	0	0	T	33609096	C	T	33609096	3	4	226	1	0	0	0	0	1	0	0	0	16676	913	32	2	1322	2	TRPC4AP	20	33609096	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	11922011	33609096	29416424	290	41404											
TGM2	7052	broad.mit.edu	37	chr20	36776383	36776383	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catgccactcaccacccggcCcacgtagacggggctgctgc	7	5	11	18	3	1	1	1	0	0	1	1	1	1	1	4	3	3	3	4	3	1	1			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:36776383C>A	ENST00000361475.2	-	5	834	c.661G>T	c.(661-663)Ggc>Tgc	p.G221C	TGM2_ENST00000536701.1_Missense_Mutation_p.G140C|TGM2_ENST00000536724.1_Missense_Mutation_p.G161C	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	221					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACCACCCGGCCCACGTAGACG	0.652													7	10					0.000442599	0.000466851	1	0	A	36776383	C	A	36776383	3	1	226	1	0	0	0	0	1	0	0	0	15924	623	22	4	1470	4	TGM2	20	36776383	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	3167287	36776383	26249137	291	41405											
GDAP1L1	78997	broad.mit.edu	37	chr20	42885797	42885797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctggcgcctgcaggtgcGgctggtgatcgccgagaagg	6	6	17	12	4	0	2	0	1	0	1	1	3	0	2	3	5	2	2	3	5	1	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:42885797G>T	ENST00000342560.5	+	2	273	c.185G>T	c.(184-186)cGg>cTg	p.R62L	GDAP1L1_ENST00000537864.1_Intron|GDAP1L1_ENST00000372952.3_Missense_Mutation_p.R62L	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	62	GST N-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCAGGTGCGGCTGGTGATC	0.706													10	3					0.000442599	0.000466851	1	0	T	42885797	G	T	42885797	3	4	226	1	0	0	0	0	1	0	0	0	6358	1116	39	3	191	3	GDAP1L1	20	42885797	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	6109414	42885797	20139723	292	41406											
CBLN4	140689	broad.mit.edu	37	chr20	54575848	54575848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaactgtaaattccttttCttggtgctacaaagacagac	13	13	7	8	0	1	3	0	1	1	2	2	3	2	3	1	1	3	2	1	1	5	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:54575848C>G	ENST00000064571.2	-	2	1647	c.347G>C	c.(346-348)aGa>aCa	p.R116T		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	116	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AATTCCTTTTCTTGGTGCTAC	0.333													22	63					0	0	0	0	G	54575848	C	G	54575848	3	3	226	1	0	0	0	0	1	0	0	0	2732	913	32	2	266	2	CBLN4	20	54575848	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	11690051	54575848	8449672	293	41407											
ZNF831	128611	broad.mit.edu	37	chr20	57781960	57781960	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgcttctctcttctacagGtacaaagggaatttcttgca	10	14	7	10	0	4	0	0	0	4	0	5	1	4	1	0	2	4	3	0	2	4	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:57781960G>C	ENST00000371030.2	+	3	3876	c.3875_splice	c.e3-1	p.R1292_splice		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1292						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCTTCTACAGGTACAAAGGGA	0.547													63	214					0	0	0	0	C	57781960	G	C	57781960	5	2	226	1	0	0	0	0	0	0	1	0	18278	1275	44	4	3886	4	ZNF831	20	57781960	Splice_Site	SNP	G	TCGA-CV-5432-01A-02D-1683-08	3206112	57781960	5243560	294	41408											
BAGE2	85319	broad.mit.edu	37	chr21	11039019	11039019	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaaacatctttcacacAaccctcaattgtaggagtca	14	11	6	10	0	4	1	3	1	1	0	4	2	4	2	1	1	2	2	1	1	5	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr21:11039019A>C	ENST00000470054.1	-	0	1184									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTTTCACACAACCCTCAATT	0.378													13	441					0	0	0	0	C	11039019	A	C	11039019	1	2	226	0	1	0	0	0	0	0	0	0	1296	145	5	5		5	BAGE2	21	11039019	RNA	SNP	A	TCGA-CV-5432-01A-02D-1683-08		11039019	37090876	295	41409											
RIPK4	54101	broad.mit.edu	37	chr21	43187145	43187145	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagcccgtgaactcgccCgcgtcgaaggtgcgcagcag	7	5	13	16	6	0	1	0	1	0	0	3	2	1	1	3	1	4	2	3	1	2	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr21:43187145C>A	ENST00000352483.2	-	1	121	c.57G>T	c.(55-57)gcG>gcT	p.A19A	RIPK4_ENST00000332512.3_Silent_p.A19A			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	19						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						TGAACTCGCCCGCGTCGAAGG	0.711													9	10					0.0581538	0.0595457	1	0	A	43187145	C	A	43187145	2	1	226	1	0	0	0	0	0	0	0	1	13468	639	23	3		3	RIPK4	21	43187145	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	32148126	43187145	4942750	296	41410											
PDE9A	5152	broad.mit.edu	37	chr21	44195393	44195393	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttcccttcttccaggagActgtgcctgaggaaagcggg	7	10	13	11	2	1	2	0	1	1	1	3	4	3	3	3	3	2	1	3	3	1	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr21:44195393A>G	ENST00000291539.6	+	20	1832	c.1772A>G	c.(1771-1773)gAc>gGc	p.D591G	PDE9A_ENST00000335440.6_Missense_Mutation_p.D489G|PDE9A_ENST00000398229.3_Missense_Mutation_p.D457G|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.D505G|PDE9A_ENST00000398224.3_Missense_Mutation_p.D464G|PDE9A_ENST00000328862.6_Missense_Mutation_p.D565G|PDE9A_ENST00000398225.3_Missense_Mutation_p.D550G|PDE9A_ENST00000539837.1_Missense_Mutation_p.D463G|PDE9A_ENST00000398232.3_Missense_Mutation_p.D524G|PDE9A_ENST00000398234.3_Missense_Mutation_p.D490G|PDE9A_ENST00000349112.3_Missense_Mutation_p.D463G|PDE9A_ENST00000335512.4_Missense_Mutation_p.D531G|PDE9A_ENST00000398227.3_Missense_Mutation_p.D431G|PDE9A_ENST00000380328.2_Missense_Mutation_p.D538G	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	591					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						CTTCCAGGAGACTGTGCCTGA	0.587													32	57					0	0	0	0	G	44195393	A	G	44195393	3	3	226	1	0	0	0	0	1	0	0	0	11726	275	10	5	1930	5	PDE9A	21	44195393	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	1008248	44195393	3934502	297	41411											
GGTLC2	91227	broad.mit.edu	37	chr22	22989484	22989484	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctctcgtcaatgtgcccgacGatcatggtgggccaggacgg	7	8	14	12	4	3	0	2	0	1	0	4	3	3	1	2	4	1	0	2	4	1	0	rs139520107		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr22:22989484G>C	ENST00000448514.1	+	3	336	c.336G>C	c.(334-336)acG>acC	p.T112T	GGTLC2_ENST00000480559.1_Silent_p.T112T			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	112					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TGTGCCCGACGATCATGGTGG	0.647													34	96					0	0	0	0	C	22989484	G	C	22989484	2	2	226	1	0	0	0	0	0	0	0	1	6417	1045	37	3		3	GGTLC2	22	22989484	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08		22989484	28315082	298	41412											
APOBEC3B	9582	broad.mit.edu	37	chr22	39387522	39387522	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcaggagaacacacacgtGagactgcgcatcttcgctgc	10	8	10	13	3	2	2	1	1	1	2	3	4	2	2	0	1	3	2	0	1	1	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr22:39387522G>C	ENST00000402182.3	+	6	964	c.909G>C	c.(907-909)gtG>gtC	p.V303V	APOBEC3B_ENST00000333467.3_Silent_p.V303V|APOBEC3B_ENST00000407298.3_Silent_p.V278V			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	303					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					ACACACACGTGAGACTGCGCA	0.582													25	203					0	0	0	0	C	39387522	G	C	39387522	2	2	226	1	0	0	0	0	0	0	0	1	792	1277	45	2		2	APOBEC3B	22	39387522	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	16398038	39387522	11917044	299	41413											
ATXN10	25814	broad.mit.edu	37	chr22	46114314	46114314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttgattattacagacctCtttctgaaaagcccggaatt	11	15	6	9	1	3	3	0	2	3	1	3	4	3	4	2	1	2	0	2	1	5	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr22:46114314C>T	ENST00000252934.5	+	6	934	c.669C>T	c.(667-669)ctC>ctT	p.L223L	ATXN10_ENST00000498009.1_3'UTR|ATXN10_ENST00000381061.4_Silent_p.L159L	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	223					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TTACAGACCTCTTTCTGAAAA	0.418													26	115					0	0	0	0	T	46114314	C	T	46114314	2	4	226	1	0	0	0	0	0	0	0	1	1214	900	32	2		2	ATXN10	22	46114314	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	6726792	46114314	5190252	300	41414											
ASMTL	8623	broad.mit.edu	37	chrX	1551172	1551172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagactcacatgggctcccCgctgtggacgtattcccaga	8	8	11	14	3	1	2	1	0	0	2	3	4	3	3	3	2	0	3	3	2	1	2			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:1551172C>A	ENST00000534940.1	-	6	550	c.325G>T	c.(325-327)Ggg>Tgg	p.G109W	ASMTL_ENST00000381317.3_Missense_Mutation_p.G167W|ASMTL_ENST00000381333.4_Missense_Mutation_p.G151W|ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Missense_Mutation_p.G91W	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	167	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGGGCTCCCCGCTGTGGACG	0.627													5	5					0.014758	0.0152328	1	0	A	1551172	C	A	1551172	3	1	226	1	0	0	0	0	1	0	0	0	1050	652	23	3	1398	3	ASMTL	23	1551172	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08		1551172	153719388	301	41415											
GPR64	10149	broad.mit.edu	37	chrX	19022897	19022897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaagctatgtaggttacaAgagtcactgacagaaaaatt	18	9	8	6	0	1	3	1	1	0	2	1	3	1	3	0	1	2	3	0	1	8	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:19022897A>G	ENST00000379878.3	-	22	2133	c.1892T>C	c.(1891-1893)cTt>cCt	p.L631P	GPR64_ENST00000379873.2_Missense_Mutation_p.L647P|GPR64_ENST00000379876.1_Missense_Mutation_p.L623P|GPR64_ENST00000356606.4_Missense_Mutation_p.L633P|GPR64_ENST00000340581.3_Missense_Mutation_p.L528P|GPR64_ENST00000360279.4_Missense_Mutation_p.L625P|GPR64_ENST00000357544.3_Missense_Mutation_p.L617P|GPR64_ENST00000354791.3_Missense_Mutation_p.L631P|GPR64_ENST00000357991.3_Missense_Mutation_p.L644P|GPR64_ENST00000379869.3_Missense_Mutation_p.L647P	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	647					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GTAGGTTACAAGAGTCACTGA	0.413													55	30					0	0	0	0	G	19022897	A	G	19022897	3	3	226	1	0	0	0	0	1	0	0	0	6754	72	3	5	1141	5	GPR64	23	19022897	Missense_Mutation	SNP	A	TCGA-CV-5432-01A-02D-1683-08	17471725	19022897	136247663	302	41416											
FAM47C	442444	broad.mit.edu	37	chrX	37028482	37028482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agactcgggtgtccagtctcCccccggagccccccgagact	6	6	11	18	3	1	2	0	0	1	2	4	4	2	3	7	2	1	0	7	2	0	0			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:37028482C>T	ENST00000358047.3	+	1	2051	c.1999C>T	c.(1999-2001)Ccc>Tcc	p.P667S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	667										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCAGTCTCCCCCCGGAGCC	0.642													14	9					0	0	0	0	T	37028482	C	T	37028482	3	4	226	1	0	0	0	0	1	0	0	0	5618	623	22	4	2001	4	FAM47C	23	37028482	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	18005585	37028482	118242078	303	41417											
FGD1	2245	broad.mit.edu	37	chrX	54492197	54492197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgttgaccagctccacggCccggtcaaagttcttcacat	8	10	10	13	2	3	1	2	1	1	0	4	1	4	1	3	3	1	3	3	3	1	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:54492197C>T	ENST00000375135.3	-	7	2162	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	477	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCTCCACGGCCCGGTCAAAG	0.542													17	4					0	0	0	0	T	54492197	C	T	54492197	3	4	226	1	0	0	0	0	1	0	0	0	5877	739	26	4	1504	4	FGD1	23	54492197	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	17463715	54492197	100778363	304	41418											
STARD8	9754	broad.mit.edu	37	chrX	67938280	67938280	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaggcggggaacccacCtttgcctctagcctgtctgt	6	11	10	14	1	3	0	1	0	2	0	3	1	3	1	4	3	3	0	4	3	2	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:67938280C>A	ENST00000252336.6	+	5	1656	c.1284C>A	c.(1282-1284)acC>acA	p.T428T	STARD8_ENST00000374599.3_Silent_p.T508T|STARD8_ENST00000374597.3_Silent_p.T428T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	428					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGGAACCCACCTTTGCCTCTA	0.622													6	6					5.18039e-06	5.78102e-06	1	0	A	67938280	C	A	67938280	2	1	226	1	0	0	0	0	0	0	0	1	15353	668	24	4		4	STARD8	23	67938280	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	13446083	67938280	87332280	305	41419											
KIAA2022	340533	broad.mit.edu	37	chrX	73962130	73962130	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctttaaattagcctttgaGgattggttttccaagagagg	10	16	10	5	0	1	2	0	1	1	1	2	4	2	3	2	3	1	1	2	3	4	8			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:73962130G>T	ENST00000373468.1	-	3	2913	c.2262C>A	c.(2260-2262)tcC>tcA	p.S754S	KIAA2022_ENST00000055682.5_Silent_p.S754S			Q5QGS0	K2022_HUMAN	KIAA2022	754					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAGCCTTTGAGGATTGGTTTT	0.388													21	12					5.26018e-13	6.77314e-13	1	0	T	73962130	G	T	73962130	2	4	226	1	0	0	0	0	0	0	0	1	8320	987	35	4		4	KIAA2022	23	73962130	Silent	SNP	G	TCGA-CV-5432-01A-02D-1683-08	6023850	73962130	81308430	306	41420											
MAGEE2	139599	broad.mit.edu	37	chrX	75004022	75004022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggttttgtcaccttccaGggccttattatattcttctg	5	20	7	9	0	3	0	1	0	2	0	4	0	4	0	3	2	0	1	3	2	3	9			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:75004022G>T	ENST00000373359.2	-	1	1057	c.865C>A	c.(865-867)Ctg>Atg	p.L289M		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	289										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCACCTTCCAGGGCCTTATTA	0.473													10	17					4.68919e-08	5.55489e-08	1	0	T	75004022	G	T	75004022	3	4	226	1	0	0	0	0	1	0	0	0	9255	991	35	4	710	4	MAGEE2	23	75004022	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	1041892	75004022	80266538	307	41421											
CXorf57	55086	broad.mit.edu	37	chrX	105882844	105882844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagcgcattgcaattcaggGgataattactgctataaagt	15	11	9	6	1	1	0	1	0	0	0	1	1	1	1	0	2	4	3	0	2	7	6			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:105882844G>T	ENST00000372548.4	+	9	1770	c.1661G>T	c.(1660-1662)gGg>gTg	p.G554V	CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	554										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GCAATTCAGGGGATAATTACT	0.423													41	22					1.07121e-22	1.48886e-22	1	0	T	105882844	G	T	105882844	3	4	226	1	0	0	0	0	1	0	0	0	4145	1232	43	4	1695	4	CXorf57	23	105882844	Missense_Mutation	SNP	G	TCGA-CV-5432-01A-02D-1683-08	30878822	105882844	49387716	308	41422											
AMOT	154796	broad.mit.edu	37	chrX	112033827	112033827	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctacctacttacctctgagCagccacagttgcagcagcat	10	9	8	14	0	1	1	0	1	1	0	1	1	1	1	3	0	8	6	3	0	3	4			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:112033827C>A	ENST00000371959.3	-	7	2109	c.2110G>T	c.(2110-2112)Gct>Tct	p.A704S	AMOT_ENST00000371962.1_Missense_Mutation_p.A472S|AMOT_ENST00000304758.1_Missense_Mutation_p.A295S|AMOT_ENST00000524145.1_Missense_Mutation_p.A704S|AMOT_ENST00000371958.1_Missense_Mutation_p.A472S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	704					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TACCTCTGAGCAGCCACAGTT	0.428													77	48					9.61239e-26	1.36058e-25	1	0	A	112033827	C	A	112033827	3	1	226	1	0	0	0	0	1	0	0	0	582	710	25	4	1164	4	AMOT	23	112033827	Missense_Mutation	SNP	C	TCGA-CV-5432-01A-02D-1683-08	6150983	112033827	43236733	309	41423											
DOCK11	139818	broad.mit.edu	37	chrX	117783069	117783069	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtataccaaaaggaaaacCtttttgaggacacatctaca	17	9	7	8	0	1	1	0	1	1	0	1	4	1	3	2	2	3	1	2	2	7	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:117783069C>G	ENST00000276204.6	+	41	4634	c.4560C>G	c.(4558-4560)acC>acG	p.T1520T	DOCK11_ENST00000276202.7_Silent_p.T1520T			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1520	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAAGGAAAACCTTTTTGAGGA	0.388													34	18					0	0	0	0	G	117783069	C	G	117783069	2	3	226	1	0	0	0	0	0	0	0	1	4722	668	24	4		4	DOCK11	23	117783069	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	5749242	117783069	37487491	310	41424											
MAGEC1	9947	broad.mit.edu	37	chrX	140995560	140995560	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacactttagcgagtctTctccaaagttcccatgagag	10	12	7	12	1	2	1	0	1	2	1	5	3	4	1	3	0	2	1	3	0	3	5			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:140995560T>C	ENST00000285879.4	+	4	2656	c.2370T>C	c.(2368-2370)ctT>ctC	p.L790L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	790							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCGAGTCTTCTCCAAAGTT	0.567										HNSCC(15;0.026)			69	37					0	0	0	0	C	140995560	T	C	140995560	2	2	226	1	0	0	0	0	0	0	0	1	9249	1770	62	5		5	MAGEC1	23	140995560	Silent	SNP	T	TCGA-CV-5432-01A-02D-1683-08	23212491	140995560	14275000	311	41425											
MAGEC1	9947	broad.mit.edu	37	chrX	140995929	140995929	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggatgaaaaggtggaCgagttggcgcggtttcttct	9	11	14	7	3	2	1	0	1	2	0	2	4	2	3	0	5	0	2	0	5	2	3			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:140995929C>T	ENST00000285879.4	+	4	3025	c.2739C>T	c.(2737-2739)gaC>gaT	p.D913D	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	913	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGGTGGACGAGTTGGCGC	0.488										HNSCC(15;0.026)			58	37					0	0	0	0	T	140995929	C	T	140995929	2	4	226	1	0	0	0	0	0	0	0	1	9249	535	19	1		1	MAGEC1	23	140995929	Silent	SNP	C	TCGA-CV-5432-01A-02D-1683-08	369	140995929	14274631	312	41426											
PLEKHG5	57449	broad.mit.edu	37	chr1	6531696	6531696	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaggcgctccgcctccAcctgggcgcggcgggaggtg	5	5	17	14	5	0	1	0	1	0	0	2	2	2	2	4	5	1	1	4	5	1	0			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:6531696A>T	ENST00000377748.1	-	13	1861	c.1362_splice	c.e13-1	p.V455_splice	PLEKHG5_ENST00000535355.1_Splice_Site_p.V447_splice|PLEKHG5_ENST00000544978.1_Splice_Site_p.V378_splice|PLEKHG5_ENST00000377725.1_Splice_Site_p.V378_splice|PLEKHG5_ENST00000537245.1_Splice_Site_p.V457_splice|PLEKHG5_ENST00000377737.2_Splice_Site_p.V378_splice|PLEKHG5_ENST00000377728.3_Splice_Site_p.V378_splice|PLEKHG5_ENST00000400913.1_Splice_Site_p.V378_splice|PLEKHG5_ENST00000400915.3_Splice_Site_p.V434_splice|PLEKHG5_ENST00000340850.5_Splice_Site_p.V378_splice|PLEKHG5_ENST00000377732.1_Splice_Site_p.V415_splice|PLEKHG5_ENST00000377740.3_Splice_Site_p.V455_splice	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	434	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCCGCCTCCACCTGGGCGCG	0.736													5	0					0	0	0	0	T	6531696	A	T	6531696	5	4	227	1	0	0	0	0	0	0	1	0	12145	173	6	5	1927	5	PLEKHG5	1	6531696	Splice_Site	SNP	A	TCGA-CV-5434-01A-01D-1683-08		6531696	242718925	1	41427											
FBXO44	93611	broad.mit.edu	37	chr1	11718615	11718615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcctcaagtcccaggtggtgGacctcaaggccgaagggtat	9	7	14	11	1	2	0	2	0	0	0	3	2	3	1	4	5	0	1	4	5	4	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:11718615G>A	ENST00000376770.1	+	5	916	c.418G>A	c.(418-420)Gac>Aac	p.D140N	FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376768.1_Missense_Mutation_p.G130E|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000251547.5_Missense_Mutation_p.D140N	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	140	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTGGTGGACCTCAAGGC	0.662													24	5					0	0	0	0	A	11718615	G	A	11718615	3	1	227	1	0	0	0	0	1	0	0	0	5798	1174	41	2	428	2	FBXO44	1	11718615	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	5186919	11718615	237532006	2	41428											
ECE1	1889	broad.mit.edu	37	chr1	21585219	21585219	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttggagttcttggaatcGgcactgacatagacagagaa	12	10	12	7	1	1	3	0	1	1	2	2	6	1	5	0	3	0	3	0	3	3	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:21585219G>C	ENST00000415912.2	-	6	806	c.681C>G	c.(679-681)gcC>gcG	p.A227A	ECE1_ENST00000264205.6_Silent_p.A240A|ECE1_ENST00000436918.2_Silent_p.A243A|ECE1_ENST00000374893.6_Silent_p.A243A|ECE1_ENST00000357071.4_Silent_p.A231A	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	243					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TCTTGGAATCGGCACTGACAT	0.572													7	31					0	0	0	0	C	21585219	G	C	21585219	2	2	227	1	0	0	0	0	0	0	0	1	4925	1103	39	3		3	ECE1	1	21585219	Silent	SNP	G	TCGA-CV-5434-01A-01D-1683-08	9866604	21585219	227665402	3	41429											
OPRD1	4985	broad.mit.edu	37	chr1	29185555	29185555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgctgcctttccagaGtgccaagtacctgatggaga	10	8	11	12	1	0	3	0	1	0	2	1	4	1	3	4	1	4	3	4	1	2	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:29185555G>A	ENST00000234961.2	+	2	559	c.317G>A	c.(316-318)aGt>aAt	p.S106N		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	106					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CCTTTCCAGAGTGCCAAGTAC	0.537													52	20					0	0	0	0	A	29185555	G	A	29185555	3	1	227	1	0	0	0	0	1	0	0	0	10955	1029	36	4	323	4	OPRD1	1	29185555	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	7600336	29185555	220065066	4	41430											
COL24A1	255631	broad.mit.edu	37	chr1	86590952	86590952	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcatttttgcctcactgAtgcgatgagtggtcactgac	8	15	9	9	1	3	3	3	3	0	0	3	4	3	3	1	1	2	0	1	1	1	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:86590952A>C	ENST00000370571.2	-	3	1433	c.1067T>G	c.(1066-1068)aTc>aGc	p.I356S	COL24A1_ENST00000436319.1_Missense_Mutation_p.I356S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	356					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGCCTCACTGATGCGATGAGT	0.418													25	19					0	0	0	0	C	86590952	A	C	86590952	3	2	227	1	0	0	0	0	1	0	0	0	3713	333	12	5	4309	5	COL24A1	1	86590952	Missense_Mutation	SNP	A	TCGA-CV-5434-01A-01D-1683-08	57405397	86590952	162659669	5	41431											
CELSR2	1952	broad.mit.edu	37	chr1	109794098	109794098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccctcttgactatgagaCgaccaaggagtacaccctac	12	7	9	13	1	1	2	0	2	1	1	1	6	1	3	3	1	3	1	3	1	4	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:109794098C>T	ENST00000271332.3	+	1	1458	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	466	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GACTATGAGACGACCAAGGAG	0.547													38	113					0	0	0	0	T	109794098	C	T	109794098	3	4	227	1	0	0	0	0	1	0	0	0	3251	536	19	1	1399	1	CELSR2	1	109794098	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	23203146	109794098	139456523	6	41432											
ZNF697	90874	broad.mit.edu	37	chr1	120165879	120165879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggtgcgaacggcgcaCgaagcccttgccgcactccc	7	4	13	17	5	0	0	0	0	0	0	1	2	1	0	4	3	4	2	4	3	2	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:120165879C>T	ENST00000421812.2	-	3	1206	c.1087G>A	c.(1087-1089)Gtg>Atg	p.V363M		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAACGGCGCACGAAGCCCTTG	0.746													2	1					0	0	0	0	T	120165879	C	T	120165879	3	4	227	1	0	0	0	0	1	0	0	0	18195	536	19	1	554	1	ZNF697	1	120165879	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	10371781	120165879	129084742	7	41433											
MSTO1	55154	broad.mit.edu	37	chr1	155582074	155582074	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcggggaataataacCtggggcctgctacctggtcc	8	8	14	11	1	1	0	1	0	0	0	2	1	2	1	4	6	3	1	4	6	4	3	rs423975		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:155582074C>T	ENST00000245564.2	+	8	804	c.780C>T	c.(778-780)acC>acT	p.T260T	MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000368341.4_Silent_p.T225T	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	260					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GAATAATAACCTGGGGCCTGC	0.552													6	49					0	0	0	0	T	155582074	C	T	155582074	2	4	227	1	0	0	0	0	0	0	0	1	9964	668	24	4		4	MSTO1	1	155582074	Silent	SNP	C	TCGA-CV-5434-01A-01D-1683-08	35416195	155582074	93668547	8	41434											
OR10R2	343406	broad.mit.edu	37	chr1	158450008	158450008	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccaggacaatctcctTcaactgttgtgctcttcaaa	9	13	8	11	0	4	0	2	0	2	0	5	1	4	1	2	2	2	2	2	2	3	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:158450008T>C	ENST00000368152.1	+	1	341	c.341T>C	c.(340-342)tTc>tCc	p.F114S	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACAATCTCCTTCAACTGTTGT	0.438													140	117					0	0	0	0	C	158450008	T	C	158450008	3	2	227	1	0	0	0	0	1	0	0	0	10988	1783	62	5	343	5	OR10R2	1	158450008	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08	2867934	158450008	90800613	9	41435											
OR6K2	81448	broad.mit.edu	37	chr1	158669969	158669969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtagagatccaggcaatCtcaggaaggggtgtgataaa	14	8	14	5	0	1	2	1	1	1	1	3	4	2	3	1	4	0	2	1	4	5	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:158669969C>G	ENST00000359610.2	-	1	517	c.474G>C	c.(472-474)gaG>gaC	p.E158D		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TCCAGGCAATCTCAGGAAGGG	0.483													11	45					0	0	0	0	G	158669969	C	G	158669969	3	3	227	1	0	0	0	0	1	0	0	0	11273	912	32	2	504	2	OR6K2	1	158669969	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	219961	158669969	90580652	10	41436											
KCNJ10	3766	broad.mit.edu	37	chr1	160011784	160011784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caactgcatgctggctgaaaCgaatggtctcagcccgcttc	9	9	10	13	2	1	1	1	1	1	0	3	2	1	1	1	2	5	4	1	2	3	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:160011784C>T	ENST00000368089.3	-	2	765	c.539G>A	c.(538-540)cGt>cAt	p.R180H	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	180						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGCTGAAACGAATGGTCTC	0.562													67	84					0	0	0	0	T	160011784	C	T	160011784	3	4	227	1	0	0	0	0	1	0	0	0	8097	536	19	1	604	1	KCNJ10	1	160011784	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	1341815	160011784	89238837	11	41437											
FCGR3A	2214	broad.mit.edu	37	chr1	161518384	161518384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtcctcaggggagtaggctCcctggcacttcagagtcaca	8	9	12	12	0	3	1	3	0	0	1	5	2	5	2	2	4	0	3	2	4	1	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:161518384C>T	ENST00000367969.3	-	3	437	c.254G>A	c.(253-255)gGa>gAa	p.G85E	FCGR3A_ENST00000540048.1_Missense_Mutation_p.G49E|FCGR3A_ENST00000443193.1_Missense_Mutation_p.G84E|FCGR3A_ENST00000436743.1_Missense_Mutation_p.G49E|FCGR3A_ENST00000476031.1_5'UTR	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	49	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGTAGGCTCCCTGGCACTT	0.542													33	247					0	0	0	0	T	161518384	C	T	161518384	3	4	227	1	0	0	0	0	1	0	0	0	5829	855	30	2	630	2	FCGR3A	1	161518384	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	1506600	161518384	87732237	12	41438											
ACBD6	84320	broad.mit.edu	37	chr1	180399399	180399399	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttcttctctggtatcTgtgggaaggagaaaaaaaag	12	13	10	6	0	3	1	0	0	3	1	5	3	4	2	1	3	0	1	1	3	6	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:180399399T>A	ENST00000367595.3	-	4	1072		c.e4-2			NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6							cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CTCTGGTATCTGTGGGAAGGA	0.323													13	88					0	0	0	0	A	180399399	T	A	180399399	5	1	227	1	0	0	0	0	0	0	1	0	126	1594	55	5	485	5	ACBD6	1	180399399	Splice_Site	SNP	T	TCGA-CV-5434-01A-01D-1683-08	18881015	180399399	68851222	13	41439											
F13B	2165	broad.mit.edu	37	chr1	197032145	197032145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaaagtatagtaatattggGcaattcttccattttccaca	14	15	5	7	0	1	0	0	0	1	0	3	0	3	0	2	1	0	3	2	1	7	10			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:197032145G>A	ENST00000367412.1	-	2	150	c.107C>T	c.(106-108)gCc>gTc	p.A36V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	36	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GTAATATTGGGCAATTCTTCC	0.323													39	250					0	0	0	0	A	197032145	G	A	197032145	3	1	227	1	0	0	0	0	1	0	0	0	5379	1203	42	4	1922	4	F13B	1	197032145	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	16632746	197032145	52218476	14	41440											
PIGR	5284	broad.mit.edu	37	chr1	207105858	207105858	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccacggctcccactgccaGcaccaggcccaggggcacca	9	2	11	19	1	0	0	0	0	0	0	1	0	1	0	6	4	3	3	6	4	0	0			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:207105858G>A	ENST00000356495.4	-	8	2134	c.1951C>T	c.(1951-1953)Ctg>Ttg	p.L651L		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	651						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCACTGCCAGCACCAGGCCC	0.637													47	65					0	0	0	0	A	207105858	G	A	207105858	2	1	227	1	0	0	0	0	0	0	0	1	11969	962	34	4		4	PIGR	1	207105858	Silent	SNP	G	TCGA-CV-5434-01A-01D-1683-08	10073713	207105858	42144763	15	41441											
USH2A	7399	broad.mit.edu	37	chr1	216348641	216348641	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagctgggaaatttacaaTacccatttcctatgaaacgg	13	11	9	8	1	0	1	0	1	0	0	1	3	1	3	2	3	4	1	2	3	6	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:216348641T>C	ENST00000366943.2	-	21	4966	c.4580A>G	c.(4579-4581)tAt>tGt	p.Y1527C	USH2A_ENST00000366942.3_Missense_Mutation_p.Y1527C|USH2A_ENST00000307340.3_Missense_Mutation_p.Y1527C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1527	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAATTTACAATACCCATTTCC	0.423										HNSCC(13;0.011)			10	55					0	0	0	0	C	216348641	T	C	216348641	3	2	227	1	0	0	0	0	1	0	0	0	17132	1406	49	5	11250	5	USH2A	1	216348641	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08	9242783	216348641	32901980	16	41442											
ASAP2	8853	broad.mit.edu	37	chr2	9528612	9528612	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtggcagcccacctcccGcccagcctgcagcccccagc	6	4	10	21	1	0	1	0	1	0	0	1	1	1	1	7	1	5	2	7	1	0	0			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:9528612G>C	ENST00000281419.3	+	22	2660	c.2320G>C	c.(2320-2322)Gcc>Ccc	p.A774P	ASAP2_ENST00000315273.4_Missense_Mutation_p.A774P|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	774	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCCACCTCCCGCCCAGCCTGC	0.587													4	23					0	0	0	0	C	9528612	G	C	9528612	3	2	227	1	0	0	0	0	1	0	0	0	1015	1087	38	3	2406	3	ASAP2	2	9528612	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08		9528612	233670761	17	41443											
LRRTM1	347730	broad.mit.edu	37	chr2	80530203	80530203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtccagcgagctgaccaCaatggccaccttgttcctcc	8	8	8	17	1	0	1	0	1	0	0	3	2	3	1	7	1	2	2	7	1	1	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:80530203C>T	ENST00000295057.3	-	2	1398	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	LRRTM1_ENST00000409148.1_Missense_Mutation_p.V248M|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	248						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGCTGACCACAATGGCCACC	0.592										HNSCC(69;0.2)			18	55					0	0	0	0	T	80530203	C	T	80530203	3	4	227	1	0	0	0	0	1	0	0	0	9103	478	17	4	830	4	LRRTM1	2	80530203	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	71001591	80530203	162669170	18	41444											
RETSAT	54884	broad.mit.edu	37	chr2	85570875	85570878	+	Frame_Shift_Del	DEL	AGAT	AGAT	-																															aggcacctcggggagcagccAgatagaactggttggtgagt																								rs70953934		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr2:85570875_85570878delAGAT	ENST00000295802.4	-	10	1689_1692	c.1577_1580delATCT	c.(1576-1581)tgfs	p.YL526fs	RETSAT_ENST00000457495.2_Frame_Shift_Del_p.YL465fs|RETSAT_ENST00000263854.6_Frame_Shift_Del_p.LS470fs|RETSAT_ENST00000475624.2_5'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	526					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GGGAGCAGCCAGATAGAACTGGTT	0.637													9	35	---	---	---	---					-	85570878	AGAT	-	85570875	7	5	227	1	0	1	0	1	0	0	0	0	13320	188	7	0	260	0	RETSAT	2	85570875	Frame_Shift_Del	DEL	AGAT	TCGA-CV-5434-01A-01D-1683-08	5040672	85570875	157628498	19	41445											
PROM2	150696	broad.mit.edu	37	chr2	95947688	95947688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagtttgcagacaccccaGggaacctgcccccgtccatg	8	6	9	18	1	0	1	0	0	0	1	1	2	1	2	7	1	3	2	7	1	1	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:95947688G>A	ENST00000317620.9	+	13	1700	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	PROM2_ENST00000542147.1_Missense_Mutation_p.G523R|PROM2_ENST00000317668.4_Missense_Mutation_p.G523R|PROM2_ENST00000403131.2_Missense_Mutation_p.G523R	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	523						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGACACCCCAGGGAACCTGCC	0.627													19	39					0	0	0	0	A	95947688	G	A	95947688	3	1	227	1	0	0	0	0	1	0	0	0	12636	1000	35	4	1617	4	PROM2	2	95947688	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	10376813	95947688	147251685	20	41446											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96993685	96993685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagagcttaccccatggagCatcccgccccatcctcactt	8	9	6	18	1	2	1	2	0	0	1	4	2	4	2	6	1	3	2	6	1	1	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:96993685C>T	ENST00000361124.4	+	1	1751	c.1340C>T	c.(1339-1341)gCa>gTa	p.A447V	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.A431V|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.A439V|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.A431V	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	439						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCCATGGAGCATCCCGCCCC	0.562													42	67					0	0	0	0	T	96993685	C	T	96993685	3	4	227	1	0	0	0	0	1	0	0	0	7977	710	25	4	1356	4	ITPRIPL1	2	96993685	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	1045997	96993685	146205688	21	41447											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135911438	135911438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttgatgatacacgggaaGcagaaaaggtaattgaggtt	14	11	12	4	1	1	4	0	3	1	1	1	5	1	5	0	3	2	3	0	3	5	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:135911438G>A	ENST00000264158.8	+	19	2324	c.2281G>A	c.(2281-2283)Gca>Aca	p.A761T	RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A761T|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A717T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	761						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TACACGGGAAGCAGAAAAGGT	0.418													5	36					0	0	0	0	A	135911438	G	A	135911438	3	1	227	1	0	0	0	0	1	0	0	0	13017	971	34	4	2355	4	RAB3GAP1	2	135911438	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	38917753	135911438	107287935	22	41448											
ZEB2	9839	broad.mit.edu	37	chr2	145187516	145187516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagagggttggcaatacCgtcatcctcagcaatatgaa	12	9	10	10	1	2	2	2	1	0	1	4	2	4	2	3	2	2	3	3	2	5	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:145187516C>T	ENST00000558170.2	-	3	1335	c.151G>A	c.(151-153)Ggt>Agt	p.G51S	ZEB2_ENST00000539609.3_Missense_Mutation_p.G51S|ZEB2_ENST00000409487.3_Missense_Mutation_p.G51S|ZEB2_ENST00000303660.4_Missense_Mutation_p.G51S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	51						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGGCAATACCGTCATCCTCA	0.502													12	79					0	0	0	0	T	145187516	C	T	145187516	3	4	227	1	0	0	0	0	1	0	0	0	17719	652	23	1	3525	1	ZEB2	2	145187516	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	9276078	145187516	98011857	23	41449											
SSFA2	6744	broad.mit.edu	37	chr2	182783567	182783567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagaattggcaatgctgcGtcagcaaaccatggtttatc	11	13	9	8	1	1	1	1	0	0	1	2	1	1	1	1	2	4	4	1	2	5	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:182783567G>A	ENST00000431877.2	+	13	3130	c.2951G>A	c.(2950-2952)cGt>cAt	p.R984H	SSFA2_ENST00000409136.1_Missense_Mutation_p.R493H|SSFA2_ENST00000409001.1_Missense_Mutation_p.R984H|SSFA2_ENST00000320370.7_Missense_Mutation_p.R984H|SSFA2_ENST00000428267.2_Missense_Mutation_p.R831H	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	984						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCAATGCTGCGTCAGCAAACC	0.383													19	64					0	0	0	0	A	182783567	G	A	182783567	3	1	227	1	0	0	0	0	1	0	0	0	15273	1145	40	1	3001	1	SSFA2	2	182783567	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	37596051	182783567	60415806	24	41450											
KIF1A	547	broad.mit.edu	37	chr2	241706365	241706365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagtcgctccggaagaCgcagtgctcctccttgatga	7	9	12	13	3	0	3	0	2	0	1	4	5	3	5	4	2	1	3	4	2	1	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:241706365C>T	ENST00000498729.2	-	19	1897	c.1651G>A	c.(1651-1653)Gtc>Atc	p.V551I	KIF1A_ENST00000320389.7_Missense_Mutation_p.V542I	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	542	FHA.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCCGGAAGACGCAGTGCTCC	0.637													4	8					0	0	0	0	T	241706365	C	T	241706365	3	4	227	1	0	0	0	0	1	0	0	0	8334	536	19	1	3568	1	KIF1A	2	241706365	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	58922798	241706365	1493008	25	41451											
SUMF1	285362	broad.mit.edu	37	chr3	4494724	4494724	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaatactccagcagggaTggggaccatctacaatgaaa	15	8	10	8	0	1	1	0	1	1	0	2	3	2	3	2	3	3	2	2	3	6	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:4494724T>C	ENST00000272902.5	-	2	315	c.280A>G	c.(280-282)Atc>Gtc	p.I94V	SUMF1_ENST00000383843.5_Missense_Mutation_p.I94V|SUMF1_ENST00000534863.1_Missense_Mutation_p.I94V|SUMF1_ENST00000458465.2_Missense_Mutation_p.I94V|SUMF1_ENST00000405420.2_Missense_Mutation_p.I94V	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	94						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CCAGCAGGGATGGGGACCATC	0.488													5	11					0	0	0	0	C	4494724	T	C	4494724	3	2	227	1	0	0	0	0	1	0	0	0	15475	1464	51	5	876	5	SUMF1	3	4494724	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08		4494724	193527706	26	41452											
CX3CR1	1524	broad.mit.edu	37	chr3	39307562	39307562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcctaggctgatggtgaCgccatgctgcacggtccggt	6	8	15	12	4	0	2	0	2	0	0	1	3	1	2	3	4	2	3	3	4	1	1	rs3732380	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:39307562C>T	ENST00000541347.1	-	2	678	c.439G>A	c.(439-441)Gtc>Atc	p.V147I	CX3CR1_ENST00000399220.2_Missense_Mutation_p.V147I|CX3CR1_ENST00000358309.3_Missense_Mutation_p.V179I|CX3CR1_ENST00000542107.1_Missense_Mutation_p.V147I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	147			V -> I (in dbSNP:rs3732380).		cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CTGATGGTGACGCCATGCTGC	0.527													4	48					0	0	0	0	T	39307562	C	T	39307562	3	4	227	1	0	0	0	0	1	0	0	0	4107	536	19	1	632	1	CX3CR1	3	39307562	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	34812838	39307562	158714868	27	41453											
BSN	8927	broad.mit.edu	37	chr3	49689861	49689861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagaccccagtctggacCgggagcctgagctggagatg	8	5	15	13	1	1	3	0	1	1	2	1	6	1	5	5	3	2	1	5	3	0	0			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:49689861C>T	ENST00000296452.4	+	5	2986	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	958					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGTCTGGACCGGGAGCCTGA	0.622													43	14					0	0	0	0	T	49689861	C	T	49689861	3	4	227	1	0	0	0	0	1	0	0	0	1538	643	23	1	2890	1	BSN	3	49689861	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	10382299	49689861	148332569	28	41454											
DNAH1	25981	broad.mit.edu	37	chr3	52383302	52383302	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatcctggacagctcgctgCccagcagcatcatcattggg	9	8	11	13	1	2	1	2	0	0	1	4	2	3	2	2	2	4	4	2	2	0	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:52383302C>G	ENST00000420323.2	+	14	2653	c.2392C>G	c.(2392-2394)Ccc>Gcc	p.P798A		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	798	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCTCGCTGCCCAGCAGCAT	0.592													20	8					0	0	0	0	G	52383302	C	G	52383302	3	3	227	1	0	0	0	0	1	0	0	0	4634	739	26	4	2442	4	DNAH1	3	52383302	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	2693441	52383302	145639128	29	41455											
IMPG2	50939	broad.mit.edu	37	chr3	101038496	101038496	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatctgggcagattttcActccattaggaaacagaata	13	13	7	8	0	3	2	2	0	1	2	4	3	4	3	1	2	1	1	1	2	4	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:101038496A>T	ENST00000193391.7	-	2	453	c.266T>A	c.(265-267)gTg>gAg	p.V89E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	89					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCAGATTTTCACTCCATTAGG	0.433													67	30					0	0	0	0	T	101038496	A	T	101038496	3	4	227	1	0	0	0	0	1	0	0	0	7782	159	6	5	3531	5	IMPG2	3	101038496	Missense_Mutation	SNP	A	TCGA-CV-5434-01A-01D-1683-08	48655194	101038496	96983934	30	41456											
CBLB	868	broad.mit.edu	37	chr3	105456100	105456100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcccatcaggataaagaTaactgaatttaaacagaaac	18	9	5	9	0	1	3	1	1	0	2	3	4	3	4	2	1	3	0	2	1	7	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:105456100T>C	ENST00000264122.4	-	8	1307	c.986A>G	c.(985-987)tAt>tGt	p.Y329C	CBLB_ENST00000405772.1_Missense_Mutation_p.Y329C|CBLB_ENST00000394027.3_Missense_Mutation_p.Y351C|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.Y329C	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	329	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AGGATAAAGATAACTGAATTT	0.279			Mis S		AML								25	15					0	0	0	0	C	105456100	T	C	105456100	3	2	227	1	0	0	0	0	1	0	0	0	2726	1406	49	5	2010	5	CBLB	3	105456100	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08	4417604	105456100	92566330	31	41457											
PLCH1	23007	broad.mit.edu	37	chr3	155199373	155199373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagacttttggatttgcaaGgactaggcagtttcagagca	11	11	11	8	0	1	2	1	0	0	2	1	4	1	4	1	3	2	4	1	3	2	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:155199373G>T	ENST00000460012.1	-	23	4709	c.4352C>A	c.(4351-4353)cCt>cAt	p.P1451H	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1451H|PLCH1_ENST00000340059.7_Missense_Mutation_p.P1489H|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.P1451H			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1489					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGATTTGCAAGGACTAGGCAG	0.468													13	59					6.31663e-08	6.8659e-08	1	0	T	155199373	G	T	155199373	3	4	227	1	0	0	0	0	1	0	0	0	12109	1000	35	4	619	4	PLCH1	3	155199373	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	49743273	155199373	42823057	32	41458											
SLITRK3	22865	broad.mit.edu	37	chr3	164906141	164906141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgtcactatggtgttaagCtgggagctggacactgctag	9	10	13	9	1	1	0	1	0	0	0	1	2	1	2	1	3	3	4	1	3	3	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:164906141C>A	ENST00000475390.1	-	2	2921	c.2478G>T	c.(2476-2478)caG>caT	p.Q826H	SLITRK3_ENST00000241274.3_Missense_Mutation_p.Q826H			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	826						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGGTGTTAAGCTGGGAGCTGG	0.547										HNSCC(40;0.11)			39	73					6.02501e-08	6.58471e-08	1	0	A	164906141	C	A	164906141	3	1	227	1	0	0	0	0	1	0	0	0	14832	796	28	4	459	4	SLITRK3	3	164906141	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	9706768	164906141	33116289	33	41459											
SLITRK3	22865	broad.mit.edu	37	chr3	164906887	164906887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgactgagctgatggtttCgatccactgtttaaagggga	10	12	12	7	1	0	3	0	3	0	0	2	5	1	4	1	3	1	3	1	3	2	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:164906887C>T	ENST00000475390.1	-	2	2175	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E578K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	578	LRRCT 2.					integral to membrane		p.E578K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTGATGGTTTCGATCCACTGT	0.517										HNSCC(40;0.11)			6	69					0	0	0	0	T	164906887	C	T	164906887	3	4	227	1	0	0	0	0	1	0	0	0	14832	893	31	1	1205	1	SLITRK3	3	164906887	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	746	164906887	33115543	34	41460											
MECOM	2122	broad.mit.edu	37	chr3	168838896	168838896	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttgtttgaggcccgaCgaagtggcaaacgttttgcc	7	13	13	8	3	0	1	0	1	0	0	0	3	0	1	2	2	2	4	2	2	2	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:168838896C>A	ENST00000464456.1	-	6	1716	c.516G>T	c.(514-516)tcG>tcT	p.S172S	MECOM_ENST00000472280.1_Silent_p.S173S|MECOM_ENST00000460814.1_Silent_p.S172S|MECOM_ENST00000494292.1_Silent_p.S360S|MECOM_ENST00000433243.2_Silent_p.S173S|MECOM_ENST00000468789.1_Silent_p.S172S|MECOM_ENST00000392736.3_Silent_p.S172S|MECOM_ENST00000264674.3_Silent_p.S237S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGAGGCCCGACGAAGTGGCAA	0.552													19	39					5.03518e-11	5.59465e-11	1	0	A	168838896	C	A	168838896	2	1	227	1	0	0	0	0	0	0	0	1	9491	523	19	3		3	MECOM	3	168838896	Silent	SNP	C	TCGA-CV-5434-01A-01D-1683-08	3932009	168838896	29183534	35	41461											
GABRB1	2560	broad.mit.edu	37	chr4	47428009	47428009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttctctttttaatgtcGtctattggctttactatgta	6	22	5	8	1	2	0	0	0	2	0	4	0	2	0	1	1	1	2	1	1	5	11			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:47428009G>T	ENST00000295454.3	+	9	1691	c.1399G>T	c.(1399-1401)Gtc>Ttc	p.V467F	GABRB1_ENST00000538619.1_Missense_Mutation_p.V397F	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	467					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTTAATGTCGTCTATTGGCT	0.418													46	27					8.04919e-23	9.41425e-23	1	0	T	47428009	G	T	47428009	3	4	227	1	0	0	0	0	1	0	0	0	6214	1145	40	3	1433	3	GABRB1	4	47428009	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08		47428009	143726267	36	41462											
PF4V1	5197	broad.mit.edu	37	chr4	74719102	74719102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctccgcagccaggtcccGcctcacccgcgccacccgcc	5	3	10	23	5	1	0	1	0	0	0	3	1	3	0	8	1	2	2	8	1	0	0			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:74719102G>A	ENST00000226524.3	+	1	197	c.23G>A	c.(22-24)cGc>cAc	p.R8H		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	8					immune response	extracellular region	chemokine activity|heparin binding			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCCAGGTCCCGCCTCACCCGC	0.652													3	11					0	0	0	0	A	74719102	G	A	74719102	3	1	227	1	0	0	0	0	1	0	0	0	11825	1087	38	1	25	1	PF4V1	4	74719102	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	27291093	74719102	116435174	37	41463											
SCLT1	132320	broad.mit.edu	37	chr4	130014244	130014244	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctttgctctctcagaaagtcGatttctgcagccatttcgat	8	15	7	11	2	3	1	1	0	2	1	6	3	3	1	1	0	3	2	1	0	1	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:130014244G>C	ENST00000281142.5	-	1	518	c.15C>G	c.(13-15)atC>atG	p.I5M	SCLT1_ENST00000434680.1_Missense_Mutation_p.I5M|SCLT1_ENST00000506368.1_Missense_Mutation_p.I5M|SCLT1_ENST00000439369.2_Missense_Mutation_p.I5M|SCLT1_ENST00000511426.1_Missense_Mutation_p.I5M|SCLT1_ENST00000503215.1_De_novo_Start_InFrame|SCLT1_ENST00000503401.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	5						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCAGAAAGTCGATTTCTGCAG	0.383													29	15					0	0	0	0	C	130014244	G	C	130014244	3	2	227	1	0	0	0	0	1	0	0	0	13993	1048	37	3	2135	3	SCLT1	4	130014244	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	55295142	130014244	61140032	38	41464											
SLC7A11	23657	broad.mit.edu	37	chr4	139103507	139103507	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatgaatcatggagaggaTttctggaaggtgaccctctc	11	10	12	8	0	3	3	1	2	2	1	4	7	3	5	1	4	0	0	1	4	2	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:139103507T>C	ENST00000280612.5	-	9	1339	c.1060A>G	c.(1060-1062)Atc>Gtc	p.I354V		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	354					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ATGGAGAGGATTTCTGGAAGG	0.393													16	8					0	0	0	0	C	139103507	T	C	139103507	3	2	227	1	0	0	0	0	1	0	0	0	14782	1493	52	5	461	5	SLC7A11	4	139103507	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08	9089263	139103507	52050769	39	41465											
PRSS48	345062	broad.mit.edu	37	chr4	152212572	152212572	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcatacagggctgggaagaGaatgcatggagatttagtcc	12	9	14	6	0	0	2	0	0	0	2	1	5	1	3	1	3	3	3	1	3	4	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:152212572G>C	ENST00000455694.2	+	5	956	c.954G>C	c.(952-954)gaG>gaC	p.E318D	PRSS48_ENST00000441586.2_Missense_Mutation_p.E175D|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	318					proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GCTGGGAAGAGAATGCATGGA	0.473													16	6					0	0	0	0	C	152212572	G	C	152212572	3	2	227	1	0	0	0	0	1	0	0	0	12709	933	33	2	972	2	PRSS48	4	152212572	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	13109065	152212572	38941704	40	41466											
FSTL5	56884	broad.mit.edu	37	chr4	162307172	162307172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtgtgcttgaactaccGtagatgttatattggtgggc	7	16	13	5	1	0	2	0	1	0	1	0	2	0	2	1	2	3	4	1	2	5	7			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:162307172G>A	ENST00000306100.5	-	16	2707	c.2271C>T	c.(2269-2271)taC>taT	p.Y757Y	FSTL5_ENST00000379164.4_Silent_p.Y756Y|FSTL5_ENST00000536695.1_Silent_p.Y756Y|FSTL5_ENST00000427802.2_Silent_p.Y747Y|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	757						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGAACTACCGTAGATGTTAT	0.418													4	69					0	0	0	0	A	162307172	G	A	162307172	2	1	227	1	0	0	0	0	0	0	0	1	6128	1140	40	1		1	FSTL5	4	162307172	Silent	SNP	G	TCGA-CV-5434-01A-01D-1683-08	10094600	162307172	28847104	41	41467											
FAT1	2195	broad.mit.edu	37	chr4	187524462	187524462	+	Nonsense_Mutation	SNP	C	C	A																															cttccaggggcagtccagtcCcgcgcagagtttctggaata																										TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:187524462C>A	ENST00000441802.2	-	19	11427	c.11218G>T	c.(11218-11220)Gga>Tga	p.G3740*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3740					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGTCCAGTCCCGCGCAGAGT	0.468										HNSCC(5;0.00058)			17	8					0.00152264	0.00155372	1	0	A	187524462	C	A	187524462	4	1	227	1	0	0	0	0	0	1	0	0	5734	632	22	4	2584	4	FAT1	4	187524462	Nonsense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	25217290	187524462	3629814	42	41468	312	2									
FAT1	2195	broad.mit.edu	37	chr4	187524463	187524463	+	Silent	SNP	C	C	A																															ttccaggggcagtccagtccCgcgcagagtttctggaatac																										TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:187524463C>A	ENST00000441802.2	-	19	11426	c.11217G>T	c.(11215-11217)gcG>gcT	p.A3739A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3739					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGTCCAGTCCCGCGCAGAGTT	0.463										HNSCC(5;0.00058)			17	8					0.00152264	0.00155372	1	0	A	187524463	C	A	187524463	2	1	227	1	0	0	0	0	0	0	0	1	5734	639	23	3		3	FAT1	4	187524463	Silent	SNP	C	TCGA-CV-5434-01A-01D-1683-08	1	187524463	3629813	43	41469	312	2									
TRIML2	205860	broad.mit.edu	37	chr4	189022227	189022227	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacctgtagcatttcctggaAcatctcctctagctcggtgg	7	12	9	13	1	2	0	0	0	2	0	5	1	3	1	3	3	3	3	3	3	3	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:189022227A>G	ENST00000512729.1	-	3	687	c.313T>C	c.(313-315)Ttc>Ctc	p.F105L	TRIML2_ENST00000536972.1_Missense_Mutation_p.F155L|TRIML2_ENST00000326754.3_Missense_Mutation_p.F105L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	105							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATTTCCTGGAACATCTCCTCT	0.398													11	15					0	0	0	0	G	189022227	A	G	189022227	3	3	227	1	0	0	0	0	1	0	0	0	16646	43	2	5	870	5	TRIML2	4	189022227	Missense_Mutation	SNP	A	TCGA-CV-5434-01A-01D-1683-08	1497764	189022227	2132049	44	41470											
CDH9	1007	broad.mit.edu	37	chr5	26885873	26885873	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtgtaccagtgctgctttGaattggataatcgttgtcaa	10	14	11	6	1	1	1	1	1	0	0	2	3	1	2	1	1	3	4	1	1	4	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:26885873G>A	ENST00000231021.4	-	11	1904	c.1732C>T	c.(1732-1734)Caa>Taa	p.Q578*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	578	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTGCTGCTTTGAATTGGATAA	0.458													5	24					0	0	0	0	A	26885873	G	A	26885873	4	1	227	1	0	0	0	0	0	1	0	0	3146	1299	45	2	645	2	CDH9	5	26885873	Nonsense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08		26885873	154029387	45	41471											
MAST4	375449	broad.mit.edu	37	chr5	66426148	66426148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggcctttgtggagcGggatatcctgacttttgcag	7	11	13	10	1	0	1	0	1	0	0	1	3	1	3	3	3	3	2	3	3	1	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:66426148G>A	ENST00000404260.3	+	15	2173	c.1865G>A	c.(1864-1866)cGg>cAg	p.R622Q	MAST4_ENST00000405643.1_Missense_Mutation_p.R440Q|MAST4_ENST00000403666.1_Missense_Mutation_p.R430Q|MAST4_ENST00000261569.7_Missense_Mutation_p.R425Q|MAST4_ENST00000403625.2_Missense_Mutation_p.R619Q			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	622	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTTGTGGAGCGGGATATCCTG	0.458													20	19					0	0	0	0	A	66426148	G	A	66426148	3	1	227	1	0	0	0	0	1	0	0	0	9396	1116	39	1	2044	1	MAST4	5	66426148	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	39540275	66426148	114489112	46	41472											
RAD50	10111	broad.mit.edu	37	chr5	131915147	131915147	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaattggcctttaagtgaAggaaaggctttgaagcaaaa	15	11	10	5	0	1	2	0	2	1	0	1	3	1	3	1	3	1	2	1	3	7	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:131915147A>G	ENST00000378823.3	+	4	905	c.87A>G	c.(85-87)gaA>gaG	p.E29E	RAD50_ENST00000265335.6_Silent_p.E168E	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	168					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTTAAGTGAAGGAAAGGCTT	0.348								Homologous recombination					44	11					0	0	0	0	G	131915147	A	G	131915147	2	3	227	1	0	0	0	0	0	0	0	1	13066	69	3	5		5	RAD50	5	131915147	Silent	SNP	A	TCGA-CV-5434-01A-01D-1683-08	65488999	131915147	49000113	47	41473											
PCDHA7	56141	broad.mit.edu	37	chr5	140215594	140215594	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgcgcgatgcgggcgtGccgcctctgggcagcaacgt	5	5	17	14	8	1	0	0	0	1	0	1	1	1	0	2	2	5	2	2	2	1	0			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr5:140215594G>T	ENST00000525929.1	+	1	1626	c.1626G>T	c.(1624-1626)gtG>gtT	p.V542V	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.V542V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGGCGTGCCGCCTCTGG	0.692													51	67					8.72198e-27	1.04195e-26	1	0	T	140215594	G	T	140215594	2	4	227	1	0	0	0	0	0	0	0	1	11600	1306	46	4		4	PCDHA7	5	140215594	Silent	SNP	G	TCGA-CV-5434-01A-01D-1683-08	8300447	140215594	40699666	48	41474											
PCDHB11	56125	broad.mit.edu	37	chr5	140580973	140580973	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcggctccccggctttgagCagcgaggcgctggtgcgcgt	3	7	17	14	7	0	1	0	1	0	0	1	2	1	1	2	4	3	4	2	4	0	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:140580973C>T	ENST00000354757.3	+	1	1626	c.1626C>T	c.(1624-1626)agC>agT	p.S542S	PCDHB11_ENST00000536699.1_Silent_p.S177S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		542	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTTTGAGCAGCGAGGCGC	0.692													31	21					0	0	0	0	T	140580973	C	T	140580973	2	4	227	1	0	0	0	0	0	0	0	1	11607	709	25	4		4	PCDHB11	5	140580973	Silent	SNP	C	TCGA-CV-5434-01A-01D-1683-08	365379	140580973	40334287	49	41475											
FOXF2	2295	broad.mit.edu	37	chr6	1395022	1395022	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatttcttctttccatccCtcagctagcgggtcgtatta	6	15	9	11	2	3	0	1	0	2	0	6	1	5	1	2	2	2	2	2	2	3	6			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:1395022C>T	ENST00000259806.1	+	2	1377	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	421					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTTTCCATCCCTCAGCTAGCG	0.507													25	45					0	0	0	0	T	1395022	C	T	1395022	2	4	227	1	0	0	0	0	0	0	0	1	6053	668	24	4		4	FOXF2	6	1395022	Silent	SNP	C	TCGA-CV-5434-01A-01D-1683-08		1395022	169720045	50	41476											
CCHCR1	54535	broad.mit.edu	37	chr6	31113227	31113227	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagtgcccaaacttcacctCtcctggcgcagctgagcaag	11	7	9	14	1	2	1	1	1	1	0	3	1	2	1	3	1	4	3	3	1	3	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:31113227C>G	ENST00000396268.3	-	12	1925	c.1737G>C	c.(1735-1737)gaG>gaC	p.E579D	CCHCR1_ENST00000376266.5_Missense_Mutation_p.E490D|CCHCR1_ENST00000396263.2_Intron|CCHCR1_ENST00000451521.2_Missense_Mutation_p.E543D	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	490					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AACTTCACCTCTCCTGGCGCA	0.557													6	31					0	0	0	0	G	31113227	C	G	31113227	3	3	227	1	0	0	0	0	1	0	0	0	2904	912	32	2	906	2	CCHCR1	6	31113227	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	29718205	31113227	140001840	51	41477											
FGD2	221472	broad.mit.edu	37	chr6	36993640	36993640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcccaaccgagtctgcCtccactgctacgcattcctc	8	8	7	18	2	1	0	0	0	1	0	4	1	3	0	5	1	4	2	5	1	2	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:36993640C>T	ENST00000274963.8	+	14	1702	c.1531C>T	c.(1531-1533)Ctc>Ttc	p.L511F		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	511					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCGAGTCTGCCTCCACTGCTA	0.622													36	7					0	0	0	0	T	36993640	C	T	36993640	3	4	227	1	0	0	0	0	1	0	0	0	5878	681	24	4	1585	4	FGD2	6	36993640	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	5880413	36993640	134121427	52	41478											
ZNF451	26036	broad.mit.edu	37	chr6	56997884	56997884	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaacaaaaagttcattcCgaagaggaggccacacgtgg	14	6	13	8	2	1	1	1	0	0	1	2	4	2	3	2	4	1	1	2	4	4	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:56997884C>T	ENST00000370706.4	+	6	713	c.469C>T	c.(469-471)Cga>Tga	p.R157*	RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.R157*|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.R157*|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAGTTCATTCCGAAGAGGAGG	0.393													15	44					0	0	0	0	T	56997884	C	T	56997884	4	4	227	1	0	0	0	0	0	1	0	0	18017	644	23	1	491	1	ZNF451	6	56997884	Nonsense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	20004244	56997884	114117183	53	41479											
SH3BGRL2	83699	broad.mit.edu	37	chr6	80406206	80406206	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccctttttttctaggattAtgacagtttttttgaatcca	8	21	5	7	0	1	2	0	2	1	0	3	3	3	3	2	1	0	1	2	1	3	9			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:80406206A>T	ENST00000369838.4	+	3	415	c.236A>T	c.(235-237)tAt>tTt	p.Y79F		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein like 2	79						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TTCTAGGATTATGACAGTTTT	0.308													42	19					0	0	0	0	T	80406206	A	T	80406206	3	4	227	1	0	0	0	0	1	0	0	0	14329	449	16	5	246	5	SH3BGRL2	6	80406206	Missense_Mutation	SNP	A	TCGA-CV-5434-01A-01D-1683-08	23408322	80406206	90708861	54	41480											
MCHR2	84539	broad.mit.edu	37	chr6	100382303	100382303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttattctgttgatacatCtcccaagtatagcataaaat	13	15	4	9	0	2	1	0	1	2	0	4	1	3	1	2	0	2	3	2	0	7	7			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:100382303C>A	ENST00000281806.2	-	5	992	c.678G>T	c.(676-678)gaG>gaT	p.E226D	MCHR2_ENST00000445970.1_Missense_Mutation_p.E226D|MCHR2_ENST00000369212.1_Missense_Mutation_p.E226D	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	226						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTTGATACATCTCCCAAGTAT	0.308													14	54					1.5842e-08	1.74088e-08	1	0	A	100382303	C	A	100382303	3	1	227	1	0	0	0	0	1	0	0	0	9452	912	32	2	352	2	MCHR2	6	100382303	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	19976097	100382303	70732764	55	41481											
LAMA2	3908	broad.mit.edu	37	chr6	129637295	129637295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttatcaaagctacttatgGaaatttcatgcgacaaagca	15	12	6	8	1	3	0	2	0	1	0	3	2	3	1	0	1	4	2	0	1	6	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:129637295G>A	ENST00000421865.2	+	27	4086	c.4037G>A	c.(4036-4038)gGa>gAa	p.G1346E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1346	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTACTTATGGAAATTTCATG	0.343													14	15					0	0	0	0	A	129637295	G	A	129637295	3	1	227	1	0	0	0	0	1	0	0	0	8659	1174	41	2	4143	2	LAMA2	6	129637295	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	29254992	129637295	41477772	56	41482											
TMEM184A	202915	broad.mit.edu	37	chr7	1590490	1590490	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagagtcgaagtagacgtaGtactggtggtctccgaggag	11	8	15	7	3	1	2	0	0	1	2	3	5	1	3	1	3	1	3	1	3	4	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:1590490G>T	ENST00000297477.5	-	3	664	c.348C>A	c.(346-348)taC>taA	p.Y116*		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	116						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		AGTAGACGTAGTACTGGTGGT	0.642													33	20					7.63505e-26	8.98241e-26	1	0	T	1590490	G	T	1590490	4	4	227	1	0	0	0	0	0	1	0	0	16198	1024	36	4	921	4	TMEM184A	7	1590490	Nonsense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08		1590490	157548173	57	41483											
GLCCI1	113263	broad.mit.edu	37	chr7	8126118	8126118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcagcagcagctcctgcagGaactgcagggtgaggaccac	11	4	14	12	0	0	1	0	1	0	0	1	3	1	3	2	3	7	6	2	3	1	0			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:8126118G>A	ENST00000223145.5	+	8	2151	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	532										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCTCCTGCAGGAACTGCAGGG	0.547													49	152					0	0	0	0	A	8126118	G	A	8126118	3	1	227	1	0	0	0	0	1	0	0	0	6482	1175	41	2	1624	2	GLCCI1	7	8126118	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	6535628	8126118	151012545	58	41484											
IL6	3569	broad.mit.edu	37	chr7	22766989	22766989	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccagggagggctggcGggcggccagcagcagaggca	7	2	21	11	2	0	1	0	0	0	1	0	2	0	2	2	7	2	4	2	7	0	0			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:22766989G>A	ENST00000420258.2	+	1	171	c.108G>A	c.(106-108)gcG>gcA	p.A36A	IL6_ENST00000404625.1_Intron|IL6_ENST00000258743.5_Intron|IL6_ENST00000401630.3_Intron|IL6_ENST00000401651.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000406575.1_Intron|IL6_ENST00000407492.1_Intron			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	0					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	GAGGGCTGGCGGGCGGCCAGC	0.677											OREG0017891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	6					0	0	0	0	A	22766989	G	A	22766989	2	1	227	1	0	0	0	0	0	0	0	1	7754	1131	39	1		1	IL6	7	22766989	Silent	SNP	G	TCGA-CV-5434-01A-01D-1683-08	14640871	22766989	136371674	59	41485											
MPP6	51678	broad.mit.edu	37	chr7	24705286	24705286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagagaaaggcatttgttaGaagagactgggacaattcag	16	8	13	4	0	1	3	1	0	0	3	1	7	1	4	0	2	0	2	0	2	5	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:24705286G>A	ENST00000396475.2	+	8	1162	c.863G>A	c.(862-864)aGa>aAa	p.R288K	MPP6_ENST00000409761.1_Missense_Mutation_p.R176K|MPP6_ENST00000222644.4_Missense_Mutation_p.R288K	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	288					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GCATTTGTTAGAAGAGACTGG	0.413													23	17					0	0	0	0	A	24705286	G	A	24705286	3	1	227	1	0	0	0	0	1	0	0	0	9808	942	33	2	885	2	MPP6	7	24705286	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	1938297	24705286	134433377	60	41486											
GPR141	353345	broad.mit.edu	37	chr7	37780320	37780320	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcctattctatgtggtgAtcctggtcaccagatacctc	7	14	8	12	1	2	2	1	1	1	1	5	2	4	2	4	2	1	1	4	2	3	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:37780320A>G	ENST00000447769.1	+	4	614	c.325A>G	c.(325-327)Atc>Gtc	p.I109V	GPR141_ENST00000334425.1_Missense_Mutation_p.I109V|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	109						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTATGTGGTGATCCTGGTCAC	0.483													17	58					0	0	0	0	G	37780320	A	G	37780320	3	3	227	1	0	0	0	0	1	0	0	0	6698	333	12	5	327	5	GPR141	7	37780320	Missense_Mutation	SNP	A	TCGA-CV-5434-01A-01D-1683-08	13075034	37780320	121358343	61	41487											
MAGI2	9863	broad.mit.edu	37	chr7	78636417	78636417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtactcacatggcaccgtgCggaggtagaggttgtcacga	9	9	14	9	3	2	1	2	0	0	1	2	3	2	2	1	4	2	4	1	4	2	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:78636417C>T	ENST00000354212.4	-	2	660	c.407G>A	c.(406-408)cGc>cAc	p.R136H	MAGI2_ENST00000419488.1_Missense_Mutation_p.R136H|MAGI2_ENST00000522391.1_Missense_Mutation_p.R136H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	136	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGCACCGTGCGGAGGTAGAG	0.373													63	41					0	0	0	0	T	78636417	C	T	78636417	3	4	227	1	0	0	0	0	1	0	0	0	9260	768	27	1	4044	1	MAGI2	7	78636417	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	40856097	78636417	80502246	62	41488											
CCDC132	55610	broad.mit.edu	37	chr7	92979233	92979233	+	Nonstop_Mutation	SNP	T	T	G																															gaaaccaatttactggattgTagctggtaaagcccttgatt																										TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:92979233T>G	ENST00000541136.1	+	24	2342	c.1780T>G	c.(1780-1782)Tag>Gag	p.*594E	CCDC132_ENST00000544910.1_Missense_Mutation_p.V754G|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.V504G|CCDC132_ENST00000305866.5_Missense_Mutation_p.V784G			Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	0										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TACTGGATTGTAGCTGGTAAA	0.338													16	88					0	0	0	0	G	92979233	T	G	92979233	4	3	227	1	0	0	0	0	0	0	0	0	2792	1638	57	5	2491	5	CCDC132	7	92979233	Nonstop_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08	14342816	92979233	66159430	63	41489	313	2									
CCDC132	55610	broad.mit.edu	37	chr7	92979234	92979234	+	Nonstop_Mutation	SNP	A	A	T																															aaaccaatttactggattgtAgctggtaaagcccttgatta																										TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:92979234A>T	ENST00000541136.1	+	24	2343	c.1781A>T	c.(1780-1782)tAg>tTg	p.*594L	CCDC132_ENST00000544910.1_Silent_p.V754V|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Silent_p.V504V|CCDC132_ENST00000305866.5_Silent_p.V784V			Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	0										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTGGATTGTAGCTGGTAAAG	0.338													17	88					0	0	0	0	T	92979234	A	T	92979234	4	4	227	1	0	0	0	0	0	0	0	0	2792	407	15	5	2492	5	CCDC132	7	92979234	Nonstop_Mutation	SNP	A	TCGA-CV-5434-01A-01D-1683-08	1	92979234	66159429	64	41490	313	2									
ASB4	51666	broad.mit.edu	37	chr7	95157520	95157520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatccagtacgtgctgaagGtcacctccgtgcgccctgct	6	9	10	16	3	1	1	1	1	0	0	3	1	3	1	5	1	4	3	5	1	2	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:95157520G>C	ENST00000325885.5	+	3	954	c.883G>C	c.(883-885)Gtc>Ctc	p.V295L	ASB4_ENST00000428113.1_Missense_Mutation_p.V295L	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	295					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CGTGCTGAAGGTCACCTCCGT	0.572											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	51					0	0	0	0	C	95157520	G	C	95157520	3	2	227	1	0	0	0	0	1	0	0	0	1029	1261	44	4	893	4	ASB4	7	95157520	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	2178286	95157520	63981143	65	41491											
TMEM130	222865	broad.mit.edu	37	chr7	98446238	98446238	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttgctgagtggcattccGcagggtcatgtacatgatga	8	13	12	8	1	1	3	1	3	0	0	2	3	2	3	1	2	2	4	1	2	1	4	rs142570247		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:98446238G>T	ENST00000450876.1	-	7	2150	c.835C>A	c.(835-837)Cgg>Agg	p.R279R	TMEM130_ENST00000416379.2_Silent_p.R363R|TMEM130_ENST00000546258.1_Silent_p.R344R|TMEM130_ENST00000345589.4_Silent_p.R261R|TMEM130_ENST00000339375.4_Silent_p.R363R			Q8N3G9	TM130_HUMAN	transmembrane protein 130	363						Golgi membrane|integral to membrane		p.R363W(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGGCATTCCGCAGGGTCATG	0.517													55	29					8.89271e-47	1.065e-46	1	0	T	98446238	G	T	98446238	2	4	227	1	0	0	0	0	0	0	0	1	16137	1086	38	3		3	TMEM130	7	98446238	Silent	SNP	G	TCGA-CV-5434-01A-01D-1683-08	3288718	98446238	60692425	66	41492											
CYP3A5	1577	broad.mit.edu	37	chr7	99258197	99258197	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtggccagttcatataaAgtgaaggaaagaacactgct	15	9	11	6	0	1	3	1	2	0	1	1	4	1	4	1	2	2	2	1	2	6	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:99258197A>G	ENST00000343703.5	-	11	1307	c.921T>C	c.(919-921)acT>acC	p.T307T	CYP3A5_ENST00000222982.4_Silent_p.T317T|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					GTTCATATAAAGTGAAGGAAA	0.473													17	105					0	0	0	0	G	99258197	A	G	99258197	2	3	227	1	0	0	0	0	0	0	0	1	4212	59	3	5		5	CYP3A5	7	99258197	Silent	SNP	A	TCGA-CV-5434-01A-01D-1683-08	811959	99258197	59880466	67	41493											
GIGYF1	64599	broad.mit.edu	37	chr7	100285665	100285665	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cataacggtagtcagccagcTtgtatttgggcatggcaggg	9	10	14	8	1	1	0	1	0	0	0	1	0	1	0	1	4	3	5	1	4	3	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:100285665T>G	ENST00000275732.5	-	2	1313	c.104A>C	c.(103-105)aAg>aCg	p.K35T	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	35										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTCAGCCAGCTTGTATTTGGG	0.642													26	95					0	0	0	0	G	100285665	T	G	100285665	3	3	227	1	0	0	0	0	1	0	0	0	6428	1609	56	5	3095	5	GIGYF1	7	100285665	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08	1027468	100285665	58852998	68	41494											
THAP5	168451	broad.mit.edu	37	chr7	108205290	108205290	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taactgatgtttccaaggtaGattctggtttcccagtatgt	9	16	9	7	0	1	2	0	1	1	1	3	2	3	2	2	2	1	4	2	2	4	6			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:108205290G>C	ENST00000415914.3	-	3	686	c.533C>G	c.(532-534)tCt>tGt	p.S178C	THAP5_ENST00000313516.5_Missense_Mutation_p.S136C|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	178					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TTCCAAGGTAGATTCTGGTTT	0.348													6	24					0	0	0	0	C	108205290	G	C	108205290	3	2	227	1	0	0	0	0	1	0	0	0	15941	942	33	2	658	2	THAP5	7	108205290	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	7919625	108205290	50933373	69	41495											
SLC13A1	6561	broad.mit.edu	37	chr7	122808429	122808429	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaatcaaatttatgtaccTtttccaactccaccttgctt	12	15	3	11	0	1	1	1	0	0	1	3	1	3	1	4	0	3	2	4	0	6	7			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:122808429T>A	ENST00000194130.2	-	6	698	c.660_splice	c.e6+1	p.K220_splice	SLC13A1_ENST00000539873.1_Splice_Site_p.K156_splice	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	220						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTTATGTACCTTTTCCAACTC	0.254													11	9					0	0	0	0	A	122808429	T	A	122808429	5	1	227	1	0	0	0	0	0	0	1	0	14479	1623	56	5	1168	5	SLC13A1	7	122808429	Splice_Site	SNP	T	TCGA-CV-5434-01A-01D-1683-08	14603139	122808429	36330234	70	41496											
MGAM	8972	broad.mit.edu	37	chr7	141734603	141734603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgacctgagatggtccatcCctggcgtgcttgagttcaac	8	11	11	11	1	1	3	1	3	0	1	3	4	3	3	3	2	2	2	3	2	1	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:141734603C>A	ENST00000475668.2	+	16	1975	c.1921C>A	c.(1921-1923)Cct>Act	p.P641T	MGAM_ENST00000549489.2_Missense_Mutation_p.P641T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	641	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGGTCCATCCCTGGCGTGCT	0.507													23	24					3.28513e-13	3.69115e-13	1	0	A	141734603	C	A	141734603	3	1	227	1	0	0	0	0	1	0	0	0	9610	623	22	4	1979	4	MGAM	7	141734603	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	18926174	141734603	17404060	71	41497											
ZNF775	285971	broad.mit.edu	37	chr7	150095175	150095176	+	Frame_Shift_Del	DEL	GC	GC	-																															cgtgcagccccaaggaggagGcgcgctagtggactggacct																										TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:150095175_150095176delGC	ENST00000329630.5	+	3	1713_1714	c.1606_1607delGC	c.(1606-1608)gfs	p.A536fs		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGGAGGAGGCGCGCTAGTGG	0.693													7	8	---	---	---	---					-	150095176	GC	-	150095175	7	5	227	1	0	1	0	1	0	0	0	0	18241	1203	42	0	1612	0	ZNF775	7	150095175	Frame_Shift_Del	DEL	GC	TCGA-CV-5434-01A-01D-1683-08	8360572	150095175	9043488	72	41498											
UBXN2B	137886	broad.mit.edu	37	chr8	59352288	59352288	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatacataaaacctagattGaggttcaaggcttttagtgg	14	12	10	5	0	1	2	1	1	0	1	1	3	1	2	1	3	2	2	1	3	7	7			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:59352288G>A	ENST00000399598.2	+	6	752	c.630G>A	c.(628-630)ttG>ttA	p.L210L		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	210						cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						AACCTAGATTGAGGTTCAAGG	0.378													6	65					0	0	0	0	A	59352288	G	A	59352288	2	1	227	1	0	0	0	0	0	0	0	1	17011	1281	45	2		2	UBXN2B	8	59352288	Silent	SNP	G	TCGA-CV-5434-01A-01D-1683-08		59352288	87011734	73	41499											
CSPP1	79848	broad.mit.edu	37	chr8	68076024	68076024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaggaaaaatcagctcCgtgcagaaggtagagttaac	14	7	11	9	1	1	2	1	0	0	2	2	3	2	3	2	2	4	4	2	2	5	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:68076024C>T	ENST00000262210.5	+	21	2717	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	CSPP1_ENST00000412460.1_Missense_Mutation_p.R551C|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	931						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAATCAGCTCCGTGCAGAAGG	0.383													11	27					0	0	0	0	T	68076024	C	T	68076024	3	4	227	1	0	0	0	0	1	0	0	0	3994	652	23	1	2881	1	CSPP1	8	68076024	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	8723736	68076024	78287998	74	41500											
GDAP1	54332	broad.mit.edu	37	chr8	75276509	75276509	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgacccttgtggttggtttGcttgcaggagtgggatattt	6	15	14	6	1	0	0	0	0	0	0	0	3	0	2	1	4	2	4	1	4	1	6			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:75276509G>A	ENST00000220822.7	+	6	1064	c.984G>A	c.(982-984)ttG>ttA	p.L328L	GDAP1_ENST00000434412.2_Silent_p.L260L|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	328						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TGGTTGGTTTGCTTGCAGGAG	0.433													21	46					0	0	0	0	A	75276509	G	A	75276509	2	1	227	1	0	0	0	0	0	0	0	1	6357	1310	46	4		4	GDAP1	8	75276509	Silent	SNP	G	TCGA-CV-5434-01A-01D-1683-08	7200485	75276509	71087513	75	41501											
ZNF572	137209	broad.mit.edu	37	chr8	125990080	125990080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatctcttcattttccGtctcaaattcatcttcctga	7	18	2	14	1	6	1	4	1	3	0	10	1	8	1	3	0	0	0	3	0	1	6			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:125990080G>A	ENST00000319286.5	+	3	1724	c.1570G>A	c.(1570-1572)Gtc>Atc	p.V524I		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTCATTTTCCGTCTCAAATTC	0.428										HNSCC(60;0.17)			39	49					0	0	0	0	A	125990080	G	A	125990080	3	1	227	1	0	0	0	0	1	0	0	0	18099	1145	40	1	1576	1	ZNF572	8	125990080	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	50713571	125990080	20373942	76	41502											
TSTA3	7264	broad.mit.edu	37	chr8	144697068	144697068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcaggacgttgtcgttCatgtgcacgtttttcctctg	5	15	12	9	3	2	0	1	0	1	0	4	2	3	1	1	1	2	5	1	1	0	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:144697068C>A	ENST00000425753.2	-	4	382	c.279G>T	c.(277-279)atG>atT	p.M93I	TSTA3_ENST00000529064.1_Missense_Mutation_p.M93I	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	93					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CGTTGTCGTTCATGTGCACGT	0.607													21	62					5.45024e-15	6.26464e-15	1	0	A	144697068	C	A	144697068	3	1	227	1	0	0	0	0	1	0	0	0	16769	826	29	2	718	2	TSTA3	8	144697068	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	18706988	144697068	1666954	77	41503											
ZNF707	286075	broad.mit.edu	37	chr8	144776666	144776666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacctggggttcttcacgcGgcatcagaggactcacaggc	8	8	12	13	2	5	1	4	0	1	1	5	2	5	2	1	5	0	2	1	5	0	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:144776666G>A	ENST00000532205.1	+	8	1981	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	ZNF707_ENST00000358656.4_Missense_Mutation_p.R361Q|ZNF707_ENST00000532158.1_Missense_Mutation_p.R361Q|ZNF707_ENST00000454097.1_Missense_Mutation_p.R361Q|ZNF707_ENST00000418203.2_Missense_Mutation_p.R361Q			Q96C28	ZN707_HUMAN	zinc finger protein 707	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCTTCACGCGGCATCAGAGG	0.647													25	16					0	0	0	0	A	144776666	G	A	144776666	3	1	227	1	0	0	0	0	1	0	0	0	18206	1116	39	1	1096	1	ZNF707	8	144776666	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	79598	144776666	1587356	78	41504											
HAUS6	54801	broad.mit.edu	37	chr9	19063008	19063008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attacagtcttttctcacctCttctaccagatgatcttgct	8	17	4	12	0	5	2	1	1	5	1	6	2	5	2	2	0	3	1	2	0	2	6			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:19063008C>G	ENST00000380502.3	-	14	2094	c.1627G>C	c.(1627-1629)Gag>Cag	p.E543Q	HAUS6_ENST00000380496.1_Missense_Mutation_p.E407Q	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	543					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.E543K(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTCTCACCTCTTCTACCAGA	0.413													43	138					0	0	0	0	G	19063008	C	G	19063008	3	3	227	1	0	0	0	0	1	0	0	0	7020	922	32	2	1256	2	HAUS6	9	19063008	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08		19063008	122150423	79	41505			1	62		3	3	97	C		1.310762e-07
HAUS6	54801	broad.mit.edu	37	chr9	19063029	19063029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctaccagatgatcttgctCtttttgaaatggatcacttt	9	18	6	8	0	4	3	1	2	3	1	4	4	4	4	1	1	2	1	1	1	2	6	rs34304297		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:19063029C>G	ENST00000380502.3	-	14	2073	c.1606G>C	c.(1606-1608)Gag>Cag	p.E536Q	HAUS6_ENST00000380496.1_Missense_Mutation_p.E400Q	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	536					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGATCTTGCTCTTTTTGAAAT	0.388													57	159					0	0	0	0	G	19063029	C	G	19063029	3	3	227	1	0	0	0	0	1	0	0	0	7020	922	32	2	1277	2	HAUS6	9	19063029	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	21	19063029	122150402	80	41506			1	62		3	3	97	C		1.310762e-07
HAUS6	54801	broad.mit.edu	37	chr9	19063104	19063104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgtattctttgcaacatCtgataatggagaattttcca	11	16	6	8	0	3	2	0	1	3	1	4	3	4	2	1	1	2	2	1	1	4	6			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:19063104C>T	ENST00000380502.3	-	14	1998	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	HAUS6_ENST00000380496.1_Missense_Mutation_p.D375N	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	511					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTGCAACATCTGATAATGGA	0.368													60	114					0	0	0	0	T	19063104	C	T	19063104	3	4	227	1	0	0	0	0	1	0	0	0	7020	913	32	2	1352	2	HAUS6	9	19063104	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	75	19063104	122150327	81	41507			1	62		3	3	97	C		1.310762e-07
UBAP2	55833	broad.mit.edu	37	chr9	33943473	33943473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attactattttcactgcttgGagctgatccaaattcagaga	12	14	7	8	0	2	2	2	1	0	1	3	4	3	3	1	1	3	2	1	1	3	6	rs147087482		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:33943473G>T	ENST00000379238.1	-	15	1777	c.1660C>A	c.(1660-1662)Cca>Aca	p.P554T	UBAP2_ENST00000360802.1_Missense_Mutation_p.P554T|UBAP2_ENST00000539807.1_Missense_Mutation_p.P309T|UBAP2_ENST00000418786.2_Missense_Mutation_p.P501T|UBAP2_ENST00000379239.4_Missense_Mutation_p.P287T|UBAP2_ENST00000379225.1_Missense_Mutation_p.P187T|UBAP2_ENST00000449054.1_Missense_Mutation_p.P554T			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	554										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCACTGCTTGGAGCTGATCCA	0.408													17	67					3.70931e-20	4.31316e-20	1	0	T	33943473	G	T	33943473	3	4	227	1	0	0	0	0	1	0	0	0	16933	1174	41	2	1759	2	UBAP2	9	33943473	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	14880369	33943473	107269958	82	41508											
TRPM3	80036	broad.mit.edu	37	chr9	73164503	73164503	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcattagatgagttgaacCgatcatccttttctctgaag	11	14	7	9	1	3	4	2	3	1	1	5	5	4	4	2	0	1	1	2	0	3	4	rs139956868	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:73164503C>A	ENST00000377110.2	-	24	3869	c.3626G>T	c.(3625-3627)cGg>cTg	p.R1209L	TRPM3_ENST00000360823.2_Missense_Mutation_p.R1071L|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1236L|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1081L|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1213L|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1068L|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1071L|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1081L|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1068L|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1058L|TRPM3_ENST00000377111.2_Missense_Mutation_p.R1209L|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1068L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1234						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGAGTTGAACCGATCATCCTT	0.423													30	27					2.61193e-14	2.98507e-14	1	0	A	73164503	C	A	73164503	3	1	227	1	0	0	0	0	1	0	0	0	16682	652	23	3	1505	3	TRPM3	9	73164503	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	39221030	73164503	68048928	83	41509											
OR1N2	138882	broad.mit.edu	37	chr9	125316085	125316085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcagatacccatgtaaacGagctgatgatcatcaccatg	13	9	8	11	1	3	3	3	2	0	1	3	4	3	3	2	0	3	3	2	0	3	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:125316085G>A	ENST00000373688.2	+	1	695	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CCATGTAAACGAGCTGATGAT	0.517													92	61					0	0	0	0	A	125316085	G	A	125316085	3	1	227	1	0	0	0	0	1	0	0	0	11041	1059	37	1	639	1	OR1N2	9	125316085	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	52151582	125316085	15897346	84	41510											
PDCL	5082	broad.mit.edu	37	chr9	125585430	125585430	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctcctccctctgctctgtCtccaactgcttgaagcggcg	4	12	9	16	2	3	1	0	1	3	0	6	1	5	1	3	1	5	3	3	1	2	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:125585430C>G	ENST00000259467.4	-	3	384	c.219G>C	c.(217-219)gaG>gaC	p.E73D		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	73					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TCTGCTCTGTCTCCAACTGCT	0.537													29	124					0	0	0	0	G	125585430	C	G	125585430	3	3	227	1	0	0	0	0	1	0	0	0	11697	912	32	2	694	2	PDCL	9	125585430	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	269345	125585430	15628001	85	41511											
GAPVD1	26130	broad.mit.edu	37	chr9	128092450	128092450	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggttctaccatatcagAgacaacaagtgaagcttgga	14	9	9	9	0	2	2	1	1	1	1	2	4	2	3	1	2	3	2	1	2	5	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:128092450A>G	ENST00000470056.1	+	11	2286	c.2126A>G	c.(2125-2127)gAg>gGg	p.E709G	GAPVD1_ENST00000495955.1_Missense_Mutation_p.E709G|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E709G|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E688G|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E709G|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E688G|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E709G|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E709G			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	709					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCATATCAGAGACAACAAGT	0.433													32	98					0	0	0	0	G	128092450	A	G	128092450	3	3	227	1	0	0	0	0	1	0	0	0	6288	304	11	5	2164	5	GAPVD1	9	128092450	Missense_Mutation	SNP	A	TCGA-CV-5434-01A-01D-1683-08	2507020	128092450	13120981	86	41512											
AKR1C4	1109	broad.mit.edu	37	chr10	5247720	5247720	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgactgcttctacttcagCcaggtgagacgccactacca	10	9	9	13	1	2	2	1	2	1	1	2	3	2	2	3	1	4	1	3	1	2	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr10:5247720C>A	ENST00000380448.1	+	6	623	c.369_splice	c.e6-1	p.P124_splice	AKR1C4_ENST00000263126.1_Splice_Site_p.P124_splice			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	124					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	TCTACTTCAGCCAGGTGAGAC	0.448													20	4					1.00905e-13	1.14017e-13	1	0	A	5247720	C	A	5247720	5	1	227	1	0	0	0	0	0	0	1	0	472	753	26	4	384	4	AKR1C4	10	5247720	Splice_Site	SNP	C	TCGA-CV-5434-01A-01D-1683-08		5247720	130287027	87	41513											
GPRIN2	9721	broad.mit.edu	37	chr10	46999984	46999984	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcccagaggtaactctGgggtccagcctggaggaggt	7	9	16	9	0	1	1	0	0	1	1	3	3	3	3	3	6	2	2	3	6	1	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr10:46999984G>T	ENST00000374314.4	+	1	2059	c.1104G>T	c.(1102-1104)ctG>ctT	p.L368L	GPRIN2_ENST00000374317.1_Silent_p.L368L			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	368										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGGTAACTCTGGGGTCCAGCC	0.672													10	85					7.48243e-07	8.0026e-07	1	0	T	46999984	G	T	46999984	2	4	227	1	0	0	0	0	0	0	0	1	6780	1335	47	4		4	GPRIN2	10	46999984	Silent	SNP	G	TCGA-CV-5434-01A-01D-1683-08	41752264	46999984	88534763	88	41514											
ZNF511	118472	broad.mit.edu	37	chr10	135123687	135123687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtatcagtgcttggtagaagGctgcacagagaagttcaaga	13	9	13	6	0	2	3	2	0	0	3	2	4	2	3	0	2	2	6	0	2	5	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr10:135123687G>A	ENST00000359035.3	+	4	452	c.449G>A	c.(448-450)gGc>gAc	p.G150D	ZNF511_ENST00000361518.5_Missense_Mutation_p.G150D|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Missense_Mutation_p.G85D			Q8NB15	ZN511_HUMAN	zinc finger protein 511	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TTGGTAGAAGGCTGCACAGAG	0.582													52	72					0	0	0	0	A	135123687	G	A	135123687	3	1	227	1	0	0	0	0	1	0	0	0	18050	1203	42	4	463	4	ZNF511	10	135123687	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	88123703	135123687	411060	89	41515											
MRPL23	6150	broad.mit.edu	37	chr11	1973401	1973401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacctcgagggcatctataAcgtgcccgtggctgctgtgc	6	11	12	12	3	1	0	0	0	1	0	2	1	1	0	2	2	5	3	2	2	3	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:1973401A>G	ENST00000381514.3	+	3	207	c.185A>G	c.(184-186)aAc>aGc	p.N62S	MRPL23_ENST00000397294.3_Missense_Mutation_p.N62S|MRPL23_ENST00000397297.3_Missense_Mutation_p.N62S|MRPL23_ENST00000397298.3_Missense_Mutation_p.N62S|MRPL23_ENST00000381519.1_Missense_Mutation_p.N62S			Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	62					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGCATCTATAACGTGCCCGTG	0.552													25	20					0	0	0	0	G	1973401	A	G	1973401	3	3	227	1	0	0	0	0	1	0	0	0	9859	43	2	5	195	5	MRPL23	11	1973401	Missense_Mutation	SNP	A	TCGA-CV-5434-01A-01D-1683-08		1973401	133033115	90	41516											
DCDC1	341019	broad.mit.edu	37	chr11	31123808	31123808	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagttgaaattaattggAaatccctcacaaacttccca	15	11	5	10	0	1	1	1	1	0	0	3	2	3	2	2	1	2	2	2	1	5	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:31123808A>G	ENST00000597505.1	-	13	1898	c.1899T>C	c.(1897-1899)ttT>ttC	p.F633F	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AATTAATTGGAAATCCCTCAC	0.308													6	7					0	0	0	0	G	31123808	A	G	31123808	2	3	227	1	0	0	0	0	0	0	0	1	4316	261	9	5		5	DCDC1	11	31123808	Silent	SNP	A	TCGA-CV-5434-01A-01D-1683-08	29150407	31123808	103882708	91	41517											
VPS37C	55048	broad.mit.edu	37	chr11	60901634	60901634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttccgctctgccaggctccGgttggtggccagtgccatct	3	11	13	14	2	2	0	0	0	2	0	4	0	4	0	5	4	2	4	5	4	0	2	rs144006897		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:60901634G>A	ENST00000301765.5	-	3	371	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	47					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GCCAGGCTCCGGTTGGTGGCC	0.582													22	62					0	0	0	0	A	60901634	G	A	60901634	3	1	227	1	0	0	0	0	1	0	0	0	17303	1115	39	1	940	1	VPS37C	11	60901634	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	29777826	60901634	74104882	92	41518											
KLC2	64837	broad.mit.edu	37	chr11	66031616	66031616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaggtggaatattactatCggcgggcactggagatctat	11	10	14	6	2	1	1	0	0	1	1	2	4	1	3	0	6	1	1	0	6	5	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:66031616C>T	ENST00000394065.2	+	6	1643	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	KLC2_ENST00000394067.2_Missense_Mutation_p.R348W|KLC2_ENST00000394066.2_Missense_Mutation_p.R271W|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000316924.5_Missense_Mutation_p.R348W|KLC2_ENST00000421552.1_Missense_Mutation_p.R271W|KLC2_ENST00000417856.1_Missense_Mutation_p.R348W			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	348					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ATATTACTATCGGCGGGCACT	0.587													3	1					0	0	0	0	T	66031616	C	T	66031616	3	4	227	1	0	0	0	0	1	0	0	0	8386	875	31	1	1068	1	KLC2	11	66031616	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	5129982	66031616	68974900	93	41519											
GPR152	390212	broad.mit.edu	37	chr11	67219165	67219165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgactgggcctctgccatcGgctctggcagagttggaccc	5	9	14	13	1	2	2	0	1	2	1	3	3	2	3	3	4	1	3	3	4	0	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:67219165G>A	ENST00000312457.2	-	1	1035	c.1031C>T	c.(1030-1032)cCg>cTg	p.P344L		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	344						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P344L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTCTGCCATCGGCTCTGGCAG	0.637													12	31					0	0	0	0	A	67219165	G	A	67219165	3	1	227	1	0	0	0	0	1	0	0	0	6707	1116	39	1	385	1	GPR152	11	67219165	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	1187549	67219165	67787351	94	41520											
ARAP1	116985	broad.mit.edu	37	chr11	72425238	72425238	+	Frame_Shift_Del	DEL	G	G	-																															ccggctttggaggtatctccGgggggcagggaggtggagag																										TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:72425238delG	ENST00000359373.5	-	4	1489	c.638delC	c.(637-639)cgfs	p.P213fs	ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000393609.3_Frame_Shift_Del_p.P213fs|ARAP1_ENST00000455638.2_Frame_Shift_Del_p.P213fs|ARAP1_ENST00000334211.8_5'UTR			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	213					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGGTATCTCCGGGGGGCAGGG	0.652													2	4	---	---	---	---					-	72425238	G	-	72425238	7	5	227	1	0	1	0	1	0	0	0	0	840	1116	39	0	3842	0	ARAP1	11	72425238	Frame_Shift_Del	DEL	G	TCGA-CV-5434-01A-01D-1683-08	5206073	72425238	62581278	95	41521											
FAM181B	220382	broad.mit.edu	37	chr11	82444616	82444616	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcccctccttcggctccCgacagcagcgcacccgccgg	5	5	10	21	6	0	0	0	0	0	0	4	1	3	0	6	2	2	3	6	2	0	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:82444616C>A	ENST00000329203.3	-	1	290	c.156G>T	c.(154-156)tcG>tcT	p.S52S		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	52										large_intestine(1)|lung(2)|prostate(1)	4						CTTCGGCTCCCGACAGCAGCG	0.692													8	11					7.48243e-07	8.0026e-07	1	0	A	82444616	C	A	82444616	2	1	227	1	0	0	0	0	0	0	0	1	5551	639	23	3		3	FAM181B	11	82444616	Silent	SNP	C	TCGA-CV-5434-01A-01D-1683-08	10019378	82444616	52561900	96	41522											
MMP12	4321	broad.mit.edu	37	chr11	102734976	102734976	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccatcatctgtctcctttCatcatacctgagcaaagaag	11	12	6	12	0	5	2	3	1	2	1	7	2	6	2	3	0	2	1	3	0	3	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:102734976C>T	ENST00000532855.1	-	0	1308							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGTCTCCTTTCATCATACCTG	0.448													5	21					0	0	0	0	T	102734976	C	T	102734976	1	4	227	0	1	0	0	0	0	0	0	0	9720	835	29	2		2	MMP12	11	102734976	RNA	SNP	C	TCGA-CV-5434-01A-01D-1683-08	20290360	102734976	32271540	97	41523											
CACNA2D4	93589	broad.mit.edu	37	chr12	1963138	1963138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggacatgttgagggccagcGctgtccagtaggcttccatg	7	9	14	11	2	0	1	0	1	0	0	2	2	2	2	3	3	1	4	3	3	1	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:1963138G>A	ENST00000382722.5	-	23	2587	c.2225C>T	c.(2224-2226)gCg>gTg	p.A742V	CACNA2D4_ENST00000539048.2_Intron|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A678V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A717V|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A742V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A678V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A603V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	742						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GAGGGCCAGCGCTGTCCAGTA	0.617													4	15					0	0	0	0	A	1963138	G	A	1963138	3	1	227	1	0	0	0	0	1	0	0	0	2576	1087	38	1	1252	1	CACNA2D4	12	1963138	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08		1963138	131888757	98	41524											
ACSM4	341392	broad.mit.edu	37	chr12	7469736	7469736	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtccatattttgcagattCgcctctgaagagcacagctg	9	11	11	10	1	1	3	0	1	1	2	3	3	2	3	2	1	3	3	2	1	2	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:7469736C>T	ENST00000399422.4	+	4	672	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	208					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.F208F(2)		endometrium(6)|kidney(1)|lung(14)	21						TTTGCAGATTCGCCTCTGAAG	0.483													10	23					0	0	0	0	T	7469736	C	T	7469736	2	4	227	1	0	0	0	0	0	0	0	1	186	883	31	1		1	ACSM4	12	7469736	Silent	SNP	C	TCGA-CV-5434-01A-01D-1683-08	5506598	7469736	126382159	99	41525											
ATF7IP	55729	broad.mit.edu	37	chr12	14591118	14591118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctgcagtgtgctgtatttGataagactttggcagaattg	9	14	12	6	1	0	3	0	1	0	2	0	3	0	3	0	1	2	5	0	1	3	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:14591118G>A	ENST00000544627.1	+	5	2190	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N	ATF7IP_ENST00000261168.4_Missense_Mutation_p.D616N|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D615N|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D615N|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D616N|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	616	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGCTGTATTTGATAAGACTTT	0.383													10	36					0	0	0	0	A	14591118	G	A	14591118	3	1	227	1	0	0	0	0	1	0	0	0	1091	1290	45	2	1860	2	ATF7IP	12	14591118	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	7121382	14591118	119260777	100	41526											
PTPRO	5800	broad.mit.edu	37	chr12	15669884	15669884	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactgtttccttaactgcAtccgtggtaatcttccctta	8	15	6	12	1	1	0	0	0	1	0	4	0	4	0	3	1	3	4	3	1	4	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:15669884A>T	ENST00000281171.4	+	9	2103	c.1773A>T	c.(1771-1773)gcA>gcT	p.A591A	PTPRO_ENST00000348962.2_Silent_p.A591A|PTPRO_ENST00000543886.1_Silent_p.A591A	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	591	Fibronectin type-III 6.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCTTAACTGCATCCGTGGTAA	0.373													59	82					0	0	0	0	T	15669884	A	T	15669884	2	4	227	1	0	0	0	0	0	0	0	1	12891	204	8	5		5	PTPRO	12	15669884	Silent	SNP	A	TCGA-CV-5434-01A-01D-1683-08	1078766	15669884	118182011	101	41527											
PLCZ1	89869	broad.mit.edu	37	chr12	18872484	18872484	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatcttgataaacttttctAcattcatttttaaacagtag	14	18	3	6	0	3	1	1	1	2	0	3	1	3	1	0	0	3	1	0	0	7	11			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:18872484A>G	ENST00000447925.2	-	5	713	c.444T>C	c.(442-444)tgT>tgC	p.C148C	PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000541695.1_Silent_p.C13C|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000266505.7_Silent_p.C150C|RP11-361I14.2_ENST00000536931.1_RNA	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	150					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AAACTTTTCTACATTCATTTT	0.279													3	17					0	0	0	0	G	18872484	A	G	18872484	2	3	227	1	0	0	0	0	0	0	0	1	12116	389	14	5		5	PLCZ1	12	18872484	Silent	SNP	A	TCGA-CV-5434-01A-01D-1683-08	3202600	18872484	114979411	102	41528											
ABCC9	10060	broad.mit.edu	37	chr12	22061049	22061054	+	In_Frame_Del	DEL	TAAAGT	TAAAGT	-																															ctctgccaactttgtagcaaTaaagtactgaattggcgcaa																										TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:22061049_22061054delTAAAGT	ENST00000261200.4	-	9	1411_1416	c.1412_1417delACTTTA	c.(1411-1419)ttt>t	p.YFI471del	ABCC9_ENST00000261201.4_In_Frame_Del_p.YFI471del|ABCC9_ENST00000345162.2_In_Frame_Del_p.YFI471del	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	471	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTGTAGCAATAAAGTACTGAATTGG	0.364													12	26	---	---	---	---					-	22061054	TAAAGT	-	22061049	7	5	227	1	0	1	0	1	0	0	0	0	59	1406	49	0	3494	0	ABCC9	12	22061049	In_Frame_Del	DEL	TAAAGT	TCGA-CV-5434-01A-01D-1683-08	3188565	22061049	111790846	103	41529											
ST8SIA1	6489	broad.mit.edu	37	chr12	22487097	22487097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgggcagccgggtccgcgGgaacttccacgccagtacag	8	5	14	14	4	0	0	0	0	0	0	2	1	2	1	4	3	3	2	4	3	2	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:22487097G>A	ENST00000396037.4	-	1	551	c.70C>T	c.(70-72)Ccg>Tcg	p.P24S	ST8SIA1_ENST00000381424.3_Missense_Mutation_p.P24S|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.P24S|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000536558.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	24					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CGGGTCCGCGGGAACTTCCAC	0.692													67	85					0	0	0	0	A	22487097	G	A	22487097	3	1	227	1	0	0	0	0	1	0	0	0	15321	1232	43	4	1020	4	ST8SIA1	12	22487097	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	426048	22487097	111364798	104	41530											
PTPRB	5787	broad.mit.edu	37	chr12	70925945	70925945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggttccagtcctacccacaCcagcactagaagagatggca	13	6	9	13	0	0	2	0	0	0	2	2	3	2	2	4	2	2	3	4	2	3	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:70925945C>A	ENST00000334414.6	-	32	6418	c.6374G>T	c.(6373-6375)gGt>gTt	p.G2125V	RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1817V|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1817V|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.G2037V|PTPRB_ENST00000538708.1_Missense_Mutation_p.G1817V|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.G1907V	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1907					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCTACCCACACCAGCACTAGA	0.433													11	28					5.50884e-06	5.82946e-06	1	0	A	70925945	C	A	70925945	3	1	227	1	0	0	0	0	1	0	0	0	12878	507	18	4	285	4	PTPRB	12	70925945	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	48438848	70925945	62925950	105	41531											
PTPRR	5801	broad.mit.edu	37	chr12	71078046	71078046	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccttgccactgtagcccTagatggagtaaagaaacaaa	14	9	8	10	0	1	2	0	0	1	2	2	3	1	3	3	1	3	2	3	1	6	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:71078046T>A	ENST00000283228.2	-	10	1812		c.e10-2		PTPRR_ENST00000440835.2_Splice_Site|PTPRR_ENST00000378778.1_Splice_Site|PTPRR_ENST00000549308.1_Splice_Site|PTPRR_ENST00000342084.4_Splice_Site	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACTGTAGCCCTAGATGGAGTA	0.453													14	27					0	0	0	0	A	71078046	T	A	71078046	5	1	227	1	0	0	0	0	0	0	1	0	12892	1536	53	5	635	5	PTPRR	12	71078046	Splice_Site	SNP	T	TCGA-CV-5434-01A-01D-1683-08	152101	71078046	62773849	106	41532											
HCFC2	29915	broad.mit.edu	37	chr12	104492210	104492210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaaataatacagctttGgtgagccagttttatttgct	12	17	7	5	0	0	1	0	1	0	0	0	1	0	1	1	1	4	3	1	1	6	8			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:104492210G>T	ENST00000229330.4	+	13	1934	c.1830G>T	c.(1828-1830)ttG>ttT	p.L610F	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	610	Fibronectin type-III 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATACAGCTTTGGTGAGCCAGT	0.378													30	42					3.73988e-18	4.32356e-18	1	0	T	104492210	G	T	104492210	3	4	227	1	0	0	0	0	1	0	0	0	7043	1339	47	4	1880	4	HCFC2	12	104492210	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	33414164	104492210	29359685	107	41533											
KIAA1033	23325	broad.mit.edu	37	chr12	105536970	105536970	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggcatttagagtcctaTgagatacttctggattgcta	11	13	10	7	0	1	2	0	1	1	2	2	4	2	3	1	2	2	3	1	2	5	7			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:105536970T>C	ENST00000332180.5	+	20	2046	c.1959T>C	c.(1957-1959)taT>taC	p.Y653Y		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	653					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TAGAGTCCTATGAGATACTTC	0.333													3	32					0	0	0	0	C	105536970	T	C	105536970	2	2	227	1	0	0	0	0	0	0	0	1	8257	1471	51	5		5	KIAA1033	12	105536970	Silent	SNP	T	TCGA-CV-5434-01A-01D-1683-08	1044760	105536970	28314925	108	41534											
NUAK1	9891	broad.mit.edu	37	chr12	106461007	106461007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaagatgcccttcctcCggcaggagaggctgtgggag	7	9	15	10	1	1	2	1	0	0	2	3	4	3	3	3	4	1	3	3	4	1	2	rs117517173	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:106461007C>T	ENST00000261402.2	-	7	2938	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	520							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GCCCTTCCTCCGGCAGGAGAG	0.607													4	96					0	0	0	0	T	106461007	C	T	106461007	3	4	227	1	0	0	0	0	1	0	0	0	10783	652	23	1	430	1	NUAK1	12	106461007	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	924037	106461007	27390888	109	41535											
DDX54	79039	broad.mit.edu	37	chr12	113599728	113599728	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaggagctgctgatgtagCggccgctctctgtcttaatc	6	13	12	10	2	2	1	0	1	2	0	4	2	2	2	1	2	3	5	1	2	3	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:113599728C>G	ENST00000314045.7	-	18	2297	c.2270G>C	c.(2269-2271)cGc>cCc	p.R757P	DDX54_ENST00000306014.5_Missense_Mutation_p.R757P	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	757					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTGATGTAGCGGCCGCTCTC	0.582													48	92					0	0	0	0	G	113599728	C	G	113599728	3	3	227	1	0	0	0	0	1	0	0	0	4404	768	27	3	390	3	DDX54	12	113599728	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	7138721	113599728	20252167	110	41536											
RIMBP2	23504	broad.mit.edu	37	chr12	130898786	130898786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatccgggccgggagctcttCggcaccagggtcagtttctg	5	9	15	12	3	3	0	1	0	2	0	5	2	4	1	3	4	1	3	3	4	0	2	rs138034003		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:130898786C>T	ENST00000261655.4	-	14	2699	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	846						cell junction|synapse		p.E846K(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGAGCTCTTCGGCACCAGGG	0.567													29	57					0	0	0	0	T	130898786	C	T	130898786	3	4	227	1	0	0	0	0	1	0	0	0	13446	893	31	1	646	1	RIMBP2	12	130898786	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	17299058	130898786	2953109	111	41537											
TUBA3C	7278	broad.mit.edu	37	chr13	19755884	19755884	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgggagtgacctggccttaCcatgttgagctcctccgctg	5	11	13	12	1	0	2	0	2	0	0	2	3	2	3	5	2	2	3	5	2	1	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr13:19755884C>T	ENST00000400113.3	-	1	108		c.e1+1			NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c						'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCTGGCCTTACCATGTTGAGC	0.672													17	11					0	0	0	0	T	19755884	C	T	19755884	5	4	227	1	0	0	0	0	0	0	1	0	16842	521	18	4	1368	4	TUBA3C	13	19755884	Splice_Site	SNP	C	TCGA-CV-5434-01A-01D-1683-08		19755884	95413994	112	41538											
FLT1	2321	broad.mit.edu	37	chr13	28896990	28896990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccggagctcgcaaagctttCgctgctggtgacgctatcta	7	10	12	12	4	1	1	0	1	1	0	3	2	1	2	1	2	3	6	1	2	3	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr13:28896990C>T	ENST00000282397.4	-	21	3141	c.2890G>A	c.(2890-2892)Gaa>Aaa	p.E964K	FLT1_ENST00000540678.1_Missense_Mutation_p.E182K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	964	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCAAAGCTTTCGCTGCTGGTG	0.478													4	109					0	0	0	0	T	28896990	C	T	28896990	3	4	227	1	0	0	0	0	1	0	0	0	5986	893	31	1	1166	1	FLT1	13	28896990	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	9141106	28896990	86272888	113	41539											
FREM2	341640	broad.mit.edu	37	chr13	39266020	39266020	+	Silent	SNP	T	T	C																															tttgagtttcaagtcaccgaTggacgtaaccctgtctttcg																										TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr13:39266020T>C	ENST00000280481.7	+	1	4755	c.4539T>C	c.(4537-4539)gaT>gaC	p.D1513D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1513					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAGTCACCGATGGACGTAACC	0.453													18	57					0	0	0	0	C	39266020	T	C	39266020	2	2	227	1	0	0	0	0	0	0	0	1	6093	1461	51	5		5	FREM2	13	39266020	Silent	SNP	T	TCGA-CV-5434-01A-01D-1683-08	10369030	39266020	75903858	114	41540	314	2									
FREM2	341640	broad.mit.edu	37	chr13	39266021	39266021	+	Nonsense_Mutation	SNP	G	G	T																															ttgagtttcaagtcaccgatGgacgtaaccctgtctttcgg																										TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr13:39266021G>T	ENST00000280481.7	+	1	4756	c.4540G>T	c.(4540-4542)Gga>Tga	p.G1514*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1514					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTCACCGATGGACGTAACCC	0.448													17	57					3.45872e-05	3.60283e-05	1	0	T	39266021	G	T	39266021	4	4	227	1	0	0	0	0	0	1	0	0	6093	1349	47	4	4542	4	FREM2	13	39266021	Nonsense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	1	39266021	75903857	115	41541	314	2									
DPF3	8110	broad.mit.edu	37	chr14	73198527	73198527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggaatacctgtatttcctgGatgctttcctcctccctggc	5	14	9	13	0	0	0	0	0	0	0	4	2	4	2	5	3	2	2	5	3	3	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr14:73198527G>C	ENST00000541685.1	-	4	429	c.417C>G	c.(415-417)atC>atG	p.I139M	DPF3_ENST00000556509.1_Missense_Mutation_p.I139M|DPF3_ENST00000546183.1_Missense_Mutation_p.I149M	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	139					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GTATTTCCTGGATGCTTTCCT	0.577													5	16					0	0	0	0	C	73198527	G	C	73198527	3	2	227	1	0	0	0	0	1	0	0	0	4754	1164	41	2	680	2	DPF3	14	73198527	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08		73198527	34151013	116	41542											
NUMB	8650	broad.mit.edu	37	chr14	73749071	73749071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcagagggcaccaaccttgGaaggtaggagattgtggtgc	10	8	16	7	0	1	2	1	0	0	2	1	4	1	3	2	5	2	2	2	5	3	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr14:73749071G>T	ENST00000556772.1	-	5	2947	c.660C>A	c.(658-660)ttC>ttA	p.F220L	NUMB_ENST00000559312.1_Intron|NUMB_ENST00000355058.3_Missense_Mutation_p.F364L|NUMB_ENST00000557597.1_Missense_Mutation_p.F353L|NUMB_ENST00000560335.1_Missense_Mutation_p.F266L|NUMB_ENST00000454166.4_Missense_Mutation_p.F266L|NUMB_ENST00000356296.4_Missense_Mutation_p.F364L|NUMB_ENST00000535282.1_Missense_Mutation_p.F353L|NUMB_ENST00000554546.1_Missense_Mutation_p.F353L|NUMB_ENST00000359560.3_Missense_Mutation_p.F353L|NUMB_ENST00000555738.2_Missense_Mutation_p.F255L|NUMB_ENST00000555394.1_Missense_Mutation_p.F364L|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000555238.1_Missense_Mutation_p.F364L			P49757	NUMB_HUMAN	numb homolog (Drosophila)	364					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		accaaccttggaaggtaggag	0.512													7	30					5.18039e-06	5.51105e-06	1	0	T	73749071	G	T	73749071	3	4	227	1	0	0	0	0	1	0	0	0	10822	1165	41	2	875	2	NUMB	14	73749071	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	550544	73749071	33600469	117	41543											
ATP8B4	79895	broad.mit.edu	37	chr15	50273431	50273431	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagagtattcatcaatctaTcaatgcttgtccttttaaac	12	16	4	9	0	4	1	3	0	1	1	5	1	5	1	1	0	2	2	1	0	7	7			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:50273431T>G	ENST00000284509.6	-	11	950	c.809A>C	c.(808-810)gAt>gCt	p.D270A	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.D270A	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	270					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATCAATCTATCAATGCTTGT	0.308													6	33					0	0	0	0	G	50273431	T	G	50273431	3	3	227	1	0	0	0	0	1	0	0	0	1201	1435	50	5	2841	5	ATP8B4	15	50273431	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08		50273431	52257961	118	41544											
ALDH1A2	8854	broad.mit.edu	37	chr15	58357778	58357778	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgggcgacggcaggaggTgcagcgacgccatgagggcg	7	3	21	10	6	0	1	0	1	0	0	0	4	0	2	1	5	2	2	1	5	0	0			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:58357778T>C	ENST00000249750.4	-	1	838	c.71A>G	c.(70-72)cAc>cGc	p.H24R	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.H24R|CTD-2330J20.2_ENST00000559684.1_RNA|ALDH1A2_ENST00000537372.1_5'UTR|ALDH1A2_ENST00000558231.1_Intron	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	24					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.H24L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CGGCAGGAGGTGCAGCGACGC	0.652													9	35					0	0	0	0	C	58357778	T	C	58357778	3	2	227	1	0	0	0	0	1	0	0	0	491	1696	59	5	1537	5	ALDH1A2	15	58357778	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08	8084347	58357778	44173614	119	41545											
ISLR2	57611	broad.mit.edu	37	chr15	74425155	74425155	+	Frame_Shift_Del	DEL	C	C	-																															ctaggagtggccggatcatgCccggagccgtgcgcctgcgt																										TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:74425155delC	ENST00000361742.3	+	4	829	c.60delC	c.(58-60)tgfs	p.C20fs	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000445793.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000435464.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000419208.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000565540.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000565159.1_Frame_Shift_Del_p.C20fs	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	20	LRRNT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCGGATCATGCCCGGAGCCGT	0.617													18	49	---	---	---	---					-	74425155	C	-	74425155	7	5	227	1	0	1	0	1	0	0	0	0	7912	747	26	0	62	0	ISLR2	15	74425155	Frame_Shift_Del	DEL	C	TCGA-CV-5434-01A-01D-1683-08	16067377	74425155	28106237	120	41546											
MFGE8	4240	broad.mit.edu	37	chr15	89449094	89449094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggggtctcaaacaggttGacatgcaccgcgtttttgtt	9	12	11	9	2	1	1	1	1	1	0	2	1	1	1	1	3	2	4	1	3	1	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:89449094G>A	ENST00000539437.1	-	6	691	c.555C>T	c.(553-555)gtC>gtT	p.V185V	MFGE8_ENST00000268150.8_Silent_p.V193V|MFGE8_ENST00000566497.1_Silent_p.V193V|MFGE8_ENST00000542878.1_Silent_p.V149V|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Silent_p.V193V			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	193	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)					CAAACAGGTTGACATGCACCG	0.582													22	62					0	0	0	0	A	89449094	G	A	89449094	2	1	227	1	0	0	0	0	0	0	0	1	9589	1277	45	2		2	MFGE8	15	89449094	Silent	SNP	G	TCGA-CV-5434-01A-01D-1683-08	15023939	89449094	13082298	121	41547											
TEKT5	146279	broad.mit.edu	37	chr16	10788293	10788293	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttccagaagccaatgtcCgacagcctctggcccaggtt	9	8	10	14	1	1	1	0	0	1	1	3	3	3	1	5	2	2	1	5	2	2	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:10788293C>G	ENST00000283025.2	-	1	509	c.438G>C	c.(436-438)tcG>tcC	p.S146S		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	146					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AGCCAATGTCCGACAGCCTCT	0.612													31	119					0	0	0	0	G	10788293	C	G	10788293	2	3	227	1	0	0	0	0	0	0	0	1	15850	639	23	3		3	TEKT5	16	10788293	Silent	SNP	C	TCGA-CV-5434-01A-01D-1683-08		10788293	79566460	122	41548											
ABCC11	85320	broad.mit.edu	37	chr16	48250115	48250115	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaatgctgcagatgaccagCgatgcgcaggtgatcagtac	12	7	13	9	2	1	3	1	2	0	1	1	5	1	3	1	1	5	4	1	1	2	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:48250115C>T	ENST00000394747.1	-	6	1210	c.861G>A	c.(859-861)tcG>tcA	p.S287S	ABCC11_ENST00000394748.1_Silent_p.S287S|ABCC11_ENST00000537808.1_Silent_p.S287S|ABCC11_ENST00000353782.5_Silent_p.S287S|ABCC11_ENST00000356608.2_Silent_p.S287S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	287	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGATGACCAGCGATGCGCAGG	0.468													27	114					0	0	0	0	T	48250115	C	T	48250115	2	4	227	1	0	0	0	0	0	0	0	1	51	755	27	1		1	ABCC11	16	48250115	Silent	SNP	C	TCGA-CV-5434-01A-01D-1683-08	37461822	48250115	42104638	123	41549											
SNX20	124460	broad.mit.edu	37	chr16	50709754	50709754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtttgacgtgcttccagCggcatttctggttctgccag	5	13	12	11	2	2	1	0	1	2	0	3	1	3	1	2	2	3	5	2	2	0	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:50709754C>A	ENST00000300590.3	-	3	381	c.209G>T	c.(208-210)cGc>cTc	p.R70L	SNX20_ENST00000330943.4_Missense_Mutation_p.R70L|SNX20_ENST00000423026.2_Missense_Mutation_p.R70L	NM_153337.2	NP_699168.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	70					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GTGCTTCCAGCGGCATTTCTG	0.522													12	57					0.000978159	0.00100841	1	0	A	50709754	C	A	50709754	3	1	227	1	0	0	0	0	1	0	0	0	14980	768	27	3	892	3	SNX20	16	50709754	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	2459639	50709754	39644999	124	41550											
ZNF276	92822	broad.mit.edu	37	chr16	89789220	89789220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaacgcctccccggctGgtcgccggaagccttgtgca	5	7	14	15	4	1	0	1	0	0	0	3	1	2	1	5	4	3	2	5	4	2	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:89789220G>A	ENST00000289816.5	+	2	574	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	ZNF276_ENST00000568064.1_Missense_Mutation_p.G88S|ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000443381.2_Missense_Mutation_p.G163S	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	163	ZAD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCCCCGGCTGGTCGCCGGAA	0.592													7	45					0	0	0	0	A	89789220	G	A	89789220	3	1	227	1	0	0	0	0	1	0	0	0	17906	1348	47	4	493	4	ZNF276	16	89789220	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	39079466	89789220	565533	125	41551											
DHX33	56919	broad.mit.edu	37	chr17	5365857	5365857	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatcatcaaagcgcactgTatagccaacctgtgcaggga	13	7	10	11	1	2	0	2	0	0	0	2	2	2	1	2	1	4	3	2	1	4	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:5365857T>C	ENST00000225296.3	-	3	660	c.460A>G	c.(460-462)Aca>Gca	p.T154A	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	154	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGCGCACTGTATAGCCAACC	0.478													18	60					0	0	0	0	C	5365857	T	C	5365857	3	2	227	1	0	0	0	0	1	0	0	0	4543	1638	57	5	1703	5	DHX33	17	5365857	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08		5365857	75829353	126	41552											
TP53	7157	broad.mit.edu	37	chr17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaggaactgttacacatgTagttgtagtggatggtggta	10	13	14	4	0	0	0	0	0	0	0	0	2	0	2	0	4	3	6	0	4	5	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTACACATGTAGTTGTAGTG	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			30	29					0	0	0	0	C	7577574	T	C	7577574	3	2	227	1	0	0	0	0	1	0	0	0	16476	1638	57	5	583	5	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08	2211717	7577574	73617636	127	41553											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	25					0	0	0	0	A	7578212	G	A	7578212	4	1	227	1	0	0	0	0	0	1	0	0	16476	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	638	7578212	73616998	128	41554											
PFAS	5198	broad.mit.edu	37	chr17	8170695	8170695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttattctcccccaaggtggtCccagcccccgagtcgccatc	6	9	8	18	2	1	0	0	0	1	0	5	1	2	0	6	2	1	0	6	2	2	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:8170695C>T	ENST00000314666.6	+	25	3314	c.3181C>T	c.(3181-3183)Ccc>Tcc	p.P1061S	PFAS_ENST00000545834.1_Missense_Mutation_p.P637S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1061					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAAGGTGGTCCCAGCCCCCG	0.607													70	110					0	0	0	0	T	8170695	C	T	8170695	3	4	227	1	0	0	0	0	1	0	0	0	11826	855	30	2	3275	2	PFAS	17	8170695	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	592483	8170695	73024515	129	41555											
ZNF18	7566	broad.mit.edu	37	chr17	11895778	11895778	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acccattgccacagtctctgGgggtcccccttcaagctttc	6	11	8	16	0	2	0	1	0	1	0	5	0	3	0	4	2	2	1	4	2	1	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:11895778G>A	ENST00000322748.3	-	4	973	c.369C>T	c.(367-369)ccC>ccT	p.P123P	ZNF18_ENST00000580306.1_Silent_p.P123P|ZNF18_ENST00000580613.1_Silent_p.P72P|ZNF18_ENST00000454073.3_Silent_p.P123P	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	123	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ACAGTCTCTGGGGGTCCCCCT	0.532													25	33					0	0	0	0	A	11895778	G	A	11895778	2	1	227	1	0	0	0	0	0	0	0	1	17842	1219	43	4		4	ZNF18	17	11895778	Silent	SNP	G	TCGA-CV-5434-01A-01D-1683-08	3725083	11895778	69299432	130	41556											
USP22	23326	broad.mit.edu	37	chr17	20924462	20924462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcgctgctcctccttggCgattatttccatgtctttgt	3	20	7	11	2	1	0	0	0	1	0	5	1	4	0	3	1	1	2	3	1	1	6			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:20924462C>T	ENST00000261497.4	-	3	585	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	USP22_ENST00000537526.2_Missense_Mutation_p.A116T|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	128					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TCCTCCTTGGCGATTATTTCC	0.483													18	28					0	0	0	0	T	20924462	C	T	20924462	3	4	227	1	0	0	0	0	1	0	0	0	17150	768	27	1	1239	1	USP22	17	20924462	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	9028684	20924462	60270748	131	41557											
MAP2K3	5606	broad.mit.edu	37	chr17	21215472	21215472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agattgagatggccatcctgCggttcccttacgagtcctgg	7	11	12	11	2	0	2	0	1	0	2	3	4	3	2	4	3	2	1	4	3	1	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:21215472C>T	ENST00000342679.4	+	10	1042	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	MAP2K3_ENST00000361818.5_Missense_Mutation_p.R236W|MAP2K3_ENST00000316920.6_Missense_Mutation_p.R236W	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	265	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GGCCATCCTGCGGTTCCCTTA	0.677													4	48					0	0	0	0	T	21215472	C	T	21215472	3	4	227	1	0	0	0	0	1	0	0	0	9307	759	27	1	831	1	MAP2K3	17	21215472	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	291010	21215472	59979738	132	41558											
MYO19	80179	broad.mit.edu	37	chr17	34863298	34863298	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgagatccaaacagggctgGttgtcctggtagttgatgaa	11	11	13	6	0	0	3	0	3	0	1	2	4	2	3	2	3	1	4	2	3	3	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:34863298G>C	ENST00000431794.3	-	16	1929	c.1407C>G	c.(1405-1407)aaC>aaG	p.N469K	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	469	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AACAGGGCTGGTTGTCCTGGT	0.542													39	32					0	0	0	0	C	34863298	G	C	34863298	3	2	227	1	0	0	0	0	1	0	0	0	10137	1252	44	4	1549	4	MYO19	17	34863298	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	13647826	34863298	46331912	133	41559											
PNMT	5409	broad.mit.edu	37	chr17	37826489	37826489	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccaggctgacggtggtGccagtgtctgaggaggaggt	7	7	20	7	1	1	2	0	2	1	0	1	5	1	4	2	7	1	1	2	7	0	0			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:37826489G>A	ENST00000269582.2	+	3	1014	c.696G>A	c.(694-696)gtG>gtA	p.V232V	PNMT_ENST00000394246.1_Silent_p.V134V	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	232					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGACGGTGGTGCCAGTGTCTG	0.662													9	4					0	0	0	0	A	37826489	G	A	37826489	2	1	227	1	0	0	0	0	0	0	0	1	12231	1306	46	4		4	PNMT	17	37826489	Silent	SNP	G	TCGA-CV-5434-01A-01D-1683-08	2963191	37826489	43368721	134	41560											
ERBB2	2064	broad.mit.edu	37	chr17	37865676	37865676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaccagctggctctcaCactgatagacaccaaccgct	13	6	7	15	1	1	2	1	1	1	1	2	3	1	2	3	1	4	3	3	1	4	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:37865676C>T	ENST00000406381.2	+	6	965	c.455C>T	c.(454-456)aCa>aTa	p.T152I	ERBB2_ENST00000269571.5_Missense_Mutation_p.T182I|ERBB2_ENST00000541774.1_Missense_Mutation_p.T167I|ERBB2_ENST00000540147.1_Missense_Mutation_p.T152I|ERBB2_ENST00000584601.1_Missense_Mutation_p.T152I|ERBB2_ENST00000584450.1_Missense_Mutation_p.T182I|ERBB2_ENST00000578199.1_Missense_Mutation_p.T152I|ERBB2_ENST00000540042.1_Missense_Mutation_p.T152I|ERBB2_ENST00000445658.2_Intron	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	182					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTGGCTCTCACACTGATAGAC	0.562		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			14	36					0	0	0	0	T	37865676	C	T	37865676	3	4	227	1	0	0	0	0	1	0	0	0	5244	478	17	4	559	4	ERBB2	17	37865676	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	39187	37865676	43329534	135	41561											
TMUB2	79089	broad.mit.edu	37	chr17	42266692	42266692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagaaggctgaagaggCgggtgaaggtcggggagact	11	6	20	4	2	0	6	0	4	0	3	1	8	0	6	0	6	0	1	0	6	3	0			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:42266692C>T	ENST00000319511.6	+	2	928	c.278C>T	c.(277-279)gCg>gTg	p.A93V	TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589785.1_Missense_Mutation_p.A93V|TMUB2_ENST00000589856.1_Missense_Mutation_p.A93V|TMUB2_ENST00000587989.1_Missense_Mutation_p.A113V|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000357984.3_Missense_Mutation_p.A93V|TMUB2_ENST00000538716.2_Missense_Mutation_p.A113V|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000446571.3_Intron	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	113						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCTGAAGAGGCGGGTGAAGGT	0.612													3	54					0	0	0	0	T	42266692	C	T	42266692	3	4	227	1	0	0	0	0	1	0	0	0	16359	768	27	1	344	1	TMUB2	17	42266692	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	4401016	42266692	38928518	136	41562											
EFTUD2	9343	broad.mit.edu	37	chr17	42940103	42940103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagagatccaaaggcGgcccacggtgcatatctggg	10	5	14	12	2	1	1	0	0	1	1	2	2	2	1	3	5	1	1	3	5	2	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:42940103G>A	ENST00000426333.2	-	16	1882	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C	EFTUD2_ENST00000592576.1_Missense_Mutation_p.R519C|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R494C|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R529C	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	529						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				ATCCAAAGGCGGCCCACGGTG	0.597													3	24					0	0	0	0	A	42940103	G	A	42940103	3	1	227	1	0	0	0	0	1	0	0	0	4997	1116	39	1	1385	1	EFTUD2	17	42940103	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	673411	42940103	38255107	137	41563											
ERN1	2081	broad.mit.edu	37	chr17	62126509	62126509	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagggtggctgccctcAgagattacgtagtaaaagac	14	7	11	9	1	1	2	1	0	0	2	1	3	1	2	2	2	2	3	2	2	6	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:62126509A>T	ENST00000433197.2	-	18	2402	c.2307T>A	c.(2305-2307)tcT>tcA	p.S769S		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	769	Protein kinase.		S -> F (in a glioblastoma multiforme sample; somatic mutation).		activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGCTGCCCTCAGAGATTACGT	0.557													18	23					0	0	0	0	T	62126509	A	T	62126509	2	4	227	1	0	0	0	0	0	0	0	1	5275	175	7	5		5	ERN1	17	62126509	Silent	SNP	A	TCGA-CV-5434-01A-01D-1683-08	19186406	62126509	19068701	138	41564											
CACNG4	27092	broad.mit.edu	37	chr17	65026643	65026643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacaggtgacccgagtgaCaagcgggacgaagacaaaaa	18	2	12	9	3	0	3	0	2	0	1	0	6	0	4	1	2	2	0	1	2	5	0			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:65026643C>A	ENST00000262138.3	+	4	509	c.507C>A	c.(505-507)gaC>gaA	p.D169E		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	169					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ACCCGAGTGACAAGCGGGACG	0.547													35	72					2.68265e-12	2.99737e-12	1	0	A	65026643	C	A	65026643	3	1	227	1	0	0	0	0	1	0	0	0	2584	477	17	4	521	4	CACNG4	17	65026643	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	2900134	65026643	16168567	139	41565											
ZACN	353174	broad.mit.edu	37	chr17	74077642	74077642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgaggctgaagaacaCggcgctcaagtccatcatcg	11	6	11	13	3	2	3	2	2	0	1	4	3	3	3	2	2	2	3	2	2	3	0	rs140656208	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:74077642C>T	ENST00000334586.5	+	7	769	c.686C>T	c.(685-687)aCg>aTg	p.T229M	EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	229	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CTGAAGAACACGGCGCTCAAG	0.662													30	83					0	0	0	0	T	74077642	C	T	74077642	3	4	227	1	0	0	0	0	1	0	0	0	17606	536	19	1	712	1	ZACN	17	74077642	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	9050999	74077642	7117568	140	41566											
CCDC57	284001	broad.mit.edu	37	chr17	80121141	80121141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtccccgagcttcctgagtgCcagtccagaggatactgggc	7	8	13	13	1	0	2	0	1	0	1	3	4	3	3	5	2	3	1	5	2	1	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:80121141C>T	ENST00000392347.1	-	13	2011	c.1975G>A	c.(1975-1977)Gca>Aca	p.A659T	CCDC57_ENST00000392343.3_Missense_Mutation_p.A659T|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000389641.4_Missense_Mutation_p.A659T	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	659										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TTCCTGAGTGCCAGTCCAGAG	0.587													4	119					0	0	0	0	T	80121141	C	T	80121141	3	4	227	1	0	0	0	0	1	0	0	0	2854	739	26	4	792	4	CCDC57	17	80121141	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	6043499	80121141	1074069	141	41567											
ZNF750	79755	broad.mit.edu	37	chr17	80790065	80790065	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagtccatttgcgacagacTtggaagaggctggcttcgcc	9	9	13	10	2	0	3	0	0	0	3	2	5	1	4	2	3	1	2	2	3	1	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:80790065T>A	ENST00000269394.3	-	2	1099	c.266A>T	c.(265-267)aAg>aTg	p.K89M	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	89						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGCGACAGACTTGGAAGAGGC	0.557													22	52					0	0	0	0	A	80790065	T	A	80790065	3	1	227	1	0	0	0	0	1	0	0	0	18226	1609	56	5	1913	5	ZNF750	17	80790065	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08	668924	80790065	405145	142	41568											
WDR7	23335	broad.mit.edu	37	chr18	54385258	54385258	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtaggacttctaagtttgCgagagaaaaaatgcataatg	16	10	10	5	1	1	1	0	0	1	1	1	4	1	2	0	1	2	3	0	1	6	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr18:54385258C>T	ENST00000254442.3	+	13	1853	c.1642C>T	c.(1642-1644)Cga>Tga	p.R548*	WDR7_ENST00000357574.3_Nonsense_Mutation_p.R548*|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	548										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCTAAGTTTGCGAGAGAAAAA	0.408													21	35					0	0	0	0	T	54385258	C	T	54385258	4	4	227	1	0	0	0	0	0	1	0	0	17416	760	27	1	1688	1	WDR7	18	54385258	Nonsense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08		54385258	23691990	143	41569											
AP3D1	8943	broad.mit.edu	37	chr19	2121212	2121212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactggctgcagatgtcaatGatcttggtgagcagctcgtc	8	11	13	9	1	2	3	1	2	1	1	4	4	2	3	0	2	3	4	0	2	1	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:2121212G>A	ENST00000355272.6	-	13	1406	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	AP3D1_ENST00000356926.4_Silent_p.I309I|AP3D1_ENST00000345016.5_Silent_p.I400I|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Silent_p.I231I	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	400					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		AGATGTCAATGATCTTGGTGA	0.582													26	26					0	0	0	0	A	2121212	G	A	2121212	2	1	227	1	0	0	0	0	0	0	0	1	747	1280	45	2		2	AP3D1	19	2121212	Silent	SNP	G	TCGA-CV-5434-01A-01D-1683-08		2121212	57007771	144	41570											
PIN1	5300	broad.mit.edu	37	chr19	9959816	9959816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgtttgcgctgcggacggggGagatgagcgggcccgtgttc	4	8	19	10	6	0	2	0	1	0	1	1	4	0	3	1	4	3	3	1	4	0	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:9959816G>A	ENST00000247970.4	+	4	455	c.433G>A	c.(433-435)Gag>Aag	p.E145K	PIN1_ENST00000380889.6_3'UTR|PIN1_ENST00000588695.1_Missense_Mutation_p.E145K	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	145	PpiC.				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(3)	3						GCGGACGGGGGAGATGAGCGG	0.687													11	22					0	0	0	0	A	9959816	G	A	9959816	3	1	227	1	0	0	0	0	1	0	0	0	12002	1175	41	2	447	2	PIN1	19	9959816	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	7838604	9959816	49169167	145	41571											
KEAP1	9817	broad.mit.edu	37	chr19	10600447	10600447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccacggcataaaggagacGattgaggacagccacgccca	13	3	11	14	3	0	2	0	1	0	1	0	5	0	3	4	3	1	1	4	3	2	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:10600447G>A	ENST00000171111.5	-	4	1955	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	KEAP1_ENST00000393623.2_Missense_Mutation_p.R470C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R470C(3)|p.R470S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TAAAGGAGACGATTGAGGACA	0.557													16	13					0	0	0	0	A	10600447	G	A	10600447	3	1	227	1	0	0	0	0	1	0	0	0	8193	1058	37	1	478	1	KEAP1	19	10600447	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	640631	10600447	48528536	146	41572											
ZNF100	163227	broad.mit.edu	37	chr19	21948566	21948566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgctcccttgagaggaCacattccatacctcgggtca	9	10	8	14	1	1	1	1	1	0	1	4	3	3	2	3	2	2	1	3	2	1	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:21948566C>T	ENST00000358296.6	-	2	224	c.26G>A	c.(25-27)tGt>tAt	p.C9Y	ZNF100_ENST00000596452.1_5'UTR	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CTTGAGAGGACACATTCCATA	0.468													17	45					0	0	0	0	T	21948566	C	T	21948566	3	4	227	1	0	0	0	0	1	0	0	0	17808	478	17	4	1618	4	ZNF100	19	21948566	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	11348119	21948566	37180417	147	41573											
ZNF208	7757	broad.mit.edu	37	chr19	22155123	22155123	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaattacctcatgtttagTaaggatggagaacatactaa	16	12	8	5	0	1	2	1	1	0	1	1	4	1	3	1	2	3	2	1	2	7	6			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:22155123T>G	ENST00000397126.4	-	4	2861	c.2713A>C	c.(2713-2715)Act>Cct	p.T905P	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCATGTTTAGTAAGGATGGAG	0.378													8	28					0	0	0	0	G	22155123	T	G	22155123	3	3	227	1	0	0	0	0	1	0	0	0	17861	1638	57	5	1133	5	ZNF208	19	22155123	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08	206557	22155123	36973860	148	41574											
ZFP30	22835	broad.mit.edu	37	chr19	38127001	38127001	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgttatgacttttctgataCagaggaagagatgtgagttt	11	15	11	4	0	1	5	0	3	1	2	1	7	1	6	0	1	1	2	0	1	3	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:38127001C>G	ENST00000351218.2	-	6	998	c.441G>C	c.(439-441)ctG>ctC	p.L147L	ZFP30_ENST00000392144.1_Silent_p.L147L|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Silent_p.L147L	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCTGATACAGAGGAAGAG	0.393													22	150					0	0	0	0	G	38127001	C	G	38127001	2	3	227	1	0	0	0	0	0	0	0	1	17739	465	17	4		4	ZFP30	19	38127001	Silent	SNP	C	TCGA-CV-5434-01A-01D-1683-08	15971878	38127001	21001982	149	41575											
NUMBL	9253	broad.mit.edu	37	chr19	41188693	41188693	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccacaggacagacttcacGgactttcggcccatctggag	10	7	10	14	2	2	1	1	0	1	1	3	4	2	4	2	4	0	0	2	4	0	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:41188693G>A	ENST00000252891.4	-	5	506	c.339C>T	c.(337-339)tcC>tcT	p.S113S	NUMBL_ENST00000540131.1_Silent_p.S72S|NUMBL_ENST00000598779.1_Silent_p.S72S	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	113	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	p.S113S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CAGACTTCACGGACTTTCGGC	0.652													17	133					0	0	0	0	A	41188693	G	A	41188693	2	1	227	1	0	0	0	0	0	0	0	1	10823	1103	39	1		1	NUMBL	19	41188693	Silent	SNP	G	TCGA-CV-5434-01A-01D-1683-08	3061692	41188693	17940290	150	41576											
ARHGAP35	2909	broad.mit.edu	37	chr19	47423172	47423172	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggataccgtccctgcagagCagctatacgaggcccactta	10	8	10	13	2	0	1	0	0	0	1	1	3	1	2	3	2	5	3	3	2	4	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:47423172C>T	ENST00000404338.3	+	1	1240	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	414	FF 2.			Q -> A (in Ref. 1; AAF80386 and 6; AAA58618).	axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CCCTGCAGAGCAGCTATACGA	0.468													73	30					0	0	0	0	T	47423172	C	T	47423172	4	4	227	1	0	0	0	0	0	1	0	0	6845	711	25	4	1242	4	ARHGAP35	19	47423172	Nonsense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	6234479	47423172	11705811	151	41577											
KDELR1	10945	broad.mit.edu	37	chr19	48887692	48887692	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcaccatgaacagctgCggcaagatggccactgactc	10	8	10	13	1	1	3	1	2	0	1	2	3	1	3	2	2	4	3	2	2	2	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:48887692C>T	ENST00000597017.1	-	3	638	c.213G>A	c.(211-213)ccG>ccA	p.P71P	KDELR1_ENST00000330720.2_Silent_p.P133P			P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	133					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TGAACAGCTGCGGCAAGATGG	0.582													10	8					0	0	0	0	T	48887692	C	T	48887692	2	4	227	1	0	0	0	0	0	0	0	1	8172	755	27	1		1	KDELR1	19	48887692	Silent	SNP	C	TCGA-CV-5434-01A-01D-1683-08	1464520	48887692	10241291	152	41578											
KLK4	9622	broad.mit.edu	37	chr19	51411651	51411651	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcgtgccctccgccggcGcagaacatgctggggtggta	5	8	16	12	4	0	1	0	0	0	1	2	1	1	1	3	5	3	3	3	5	2	1			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:51411651G>T	ENST00000324041.1	-	4	575	c.576C>A	c.(574-576)tgC>tgA	p.C192*	KLK4_ENST00000431178.2_Intron	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	192	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CTCCGCCGGCGCAGAACATGC	0.622													56	52					6.3091e-27	7.46639e-27	1	0	T	51411651	G	T	51411651	4	4	227	1	0	0	0	0	0	1	0	0	8458	1079	38	3	196	3	KLK4	19	51411651	Nonsense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	2523959	51411651	7717332	153	41579											
ZNF320	162967	broad.mit.edu	37	chr19	53384345	53384345	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaatcctcctatgtcttTcaagatgtgatttgcgactg	9	16	8	8	1	2	3	1	2	1	1	4	4	4	3	2	0	1	0	2	0	4	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:53384345T>A	ENST00000595635.1	-	8	1535	c.1034A>T	c.(1033-1035)gAa>gTa	p.E345V	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.E345V	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CCTATGTCTTTCAAGATGTGA	0.428													66	25					0	0	0	0	A	53384345	T	A	53384345	3	1	227	1	0	0	0	0	1	0	0	0	17934	1783	62	5	499	5	ZNF320	19	53384345	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08	1972694	53384345	5744638	154	41580											
TMEM150B	284417	broad.mit.edu	37	chr19	55831420	55831420	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctcacctggaaattgcctAccacggaggtgcccagggca	9	7	12	13	1	1	0	1	0	1	0	2	2	1	2	4	4	3	1	4	4	2	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:55831420A>T	ENST00000326652.4	-	6	493	c.311T>A	c.(310-312)gTa>gAa	p.V104E	TMEM150B_ENST00000438693.1_Missense_Mutation_p.V104E			A6NC51	T150B_HUMAN	transmembrane protein 150B	104						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GAAATTGCCTACCACGGAGGT	0.617													63	12					0	0	0	0	T	55831420	A	T	55831420	3	4	227	1	0	0	0	0	1	0	0	0	16162	391	14	5	402	5	TMEM150B	19	55831420	Missense_Mutation	SNP	A	TCGA-CV-5434-01A-01D-1683-08	2447075	55831420	3297563	155	41581											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565249	58565249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgaggaagaaagcccccCggagcaagggcccccgggag	11	0	15	15	3	0	1	0	0	0	1	0	5	0	4	6	4	2	1	6	4	3	0			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:58565249C>T	ENST00000282326.1	+	6	1304	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	353					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAAAGCCCCCCGGAGCAAGGG	0.662													27	11					0	0	0	0	T	58565249	C	T	58565249	3	4	227	1	0	0	0	0	1	0	0	0	18319	643	23	1	1071	1	ZSCAN1	19	58565249	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	2733829	58565249	563734	156	41582											
SUN5	140732	broad.mit.edu	37	chr20	31583478	31583478	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaatgagctggttcatgcTacctcggaggtcctggattt	7	12	13	9	1	1	1	1	1	0	0	3	3	2	3	2	5	3	4	2	5	2	3			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr20:31583478T>A	ENST00000356173.3	-	8	573	c.481A>T	c.(481-483)Agc>Tgc	p.S161C	SUN5_ENST00000375523.3_Missense_Mutation_p.S136C	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	161					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TGGTTCATGCTACCTCGGAGG	0.493													44	246					0	0	0	0	A	31583478	T	A	31583478	3	1	227	1	0	0	0	0	1	0	0	0	15484	1522	53	5	682	5	SUN5	20	31583478	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08		31583478	31442042	157	41583											
ZHX3	23051	broad.mit.edu	37	chr20	39832157	39832157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccaccttcacagctgacGttgtatttgaacacacagtg	11	11	8	11	1	1	3	1	3	0	0	1	3	1	3	2	0	2	3	2	0	2	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr20:39832157G>A	ENST00000309060.3	-	4	1815	c.1400C>T	c.(1399-1401)aCg>aTg	p.T467M	ZHX3_ENST00000432768.2_Missense_Mutation_p.T467M|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.T467M|ZHX3_ENST00000544979.2_Missense_Mutation_p.T467M|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.T467M|ZHX3_ENST00000559234.1_Missense_Mutation_p.T467M			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	467	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CACAGCTGACGTTGTATTTGA	0.542													6	20					0	0	0	0	A	39832157	G	A	39832157	3	1	227	1	0	0	0	0	1	0	0	0	17772	1145	40	1	1478	1	ZHX3	20	39832157	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	8248679	39832157	23193363	158	41584											
DIDO1	11083	broad.mit.edu	37	chr20	61512534	61512534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccctggaagcatctctctCgggcagggcaccctgggcac	7	6	12	16	1	2	0	0	0	2	0	4	1	2	1	3	4	1	4	3	4	1	0			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr20:61512534C>T	ENST00000266070.4	-	16	5099	c.4774G>A	c.(4774-4776)Gag>Aag	p.E1592K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1592K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1592					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCATCTCTCTCGGGCAGGGCA	0.711													13	15					0	0	0	0	T	61512534	C	T	61512534	3	4	227	1	0	0	0	0	1	0	0	0	4559	893	31	1	1952	1	DIDO1	20	61512534	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	21680377	61512534	1512986	159	41585											
PWP2	5822	broad.mit.edu	37	chr21	45535281	45535281	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaatccaacagcctggacGtatgtccctttgccaagttc	9	12	8	12	1	0	1	0	1	0	0	3	2	2	2	4	1	3	2	4	1	4	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr21:45535281G>A	ENST00000291576.7	+	6	733		c.e6+1			NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)							cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CAGCCTGGACGTATGTCCCTT	0.602													28	84					0	0	0	0	A	45535281	G	A	45535281	5	1	227	1	0	0	0	0	0	0	1	0	12926	1159	40	1	629	1	PWP2	21	45535281	Splice_Site	SNP	G	TCGA-CV-5434-01A-01D-1683-08		45535281	2594614	160	41586											
C21orf58	54058	broad.mit.edu	37	chr21	47737166	47737166	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccccttccacgttctgcCgttcttgctccagcttctgt	2	15	7	17	2	3	0	0	0	3	0	6	0	6	0	5	0	3	4	5	0	0	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr21:47737166C>A	ENST00000291691.7	-	3	1462	c.326G>T	c.(325-327)cGg>cTg	p.R109L	C21orf58_ENST00000397685.4_Missense_Mutation_p.R26L|C21orf58_ENST00000397679.1_5'UTR|C21orf58_ENST00000397680.1_5'UTR|C21orf58_ENST00000397683.1_5'UTR|C21orf58_ENST00000397682.3_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	109										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		CACGTTCTGCCGTTCTTGCTC	0.597													10	9					0.000673444	0.000697869	1	0	A	47737166	C	A	47737166	3	1	227	1	0	0	0	0	1	0	0	0	2149	652	23	3	666	3	C21orf58	21	47737166	Missense_Mutation	SNP	C	TCGA-CV-5434-01A-01D-1683-08	2201885	47737166	392729	161	41587											
EP300	2033	broad.mit.edu	37	chr22	41566521	41566521	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccaagcgactgcaggaatgGtacaaaaaaatgcttgacaa	17	6	9	9	1	0	1	0	1	0	0	0	3	0	2	1	2	4	3	1	2	7	2			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr22:41566521G>C	ENST00000263253.7	+	27	5617	c.4398G>C	c.(4396-4398)tgG>tgC	p.W1466C	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1466					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGCAGGAATGGTACAAAAAAA	0.473			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				30	50					0	0	0	0	C	41566521	G	C	41566521	3	2	227	1	0	0	0	0	1	0	0	0	5186	1270	44	4	4504	4	EP300	22	41566521	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08		41566521	9738045	162	41588											
PKDREJ	10343	broad.mit.edu	37	chr22	46654890	46654890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggtgaacaaaaaagttaTtaataattgcacagggattg	18	10	9	4	0	0	1	0	1	0	0	0	2	0	2	0	2	2	2	0	2	7	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr22:46654890T>C	ENST00000253255.5	-	1	4329	c.4330A>G	c.(4330-4332)Ata>Gta	p.I1444V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1444					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAAAAGTTATTAATAATTGC	0.378													17	55					0	0	0	0	C	46654890	T	C	46654890	3	2	227	1	0	0	0	0	1	0	0	0	12042	1493	52	5	2435	5	PKDREJ	22	46654890	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08	5088369	46654890	4649676	163	41589											
GAGE2D	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																										TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													3	5	---	---	---	---					TAT	49208296	-	TAT	49208295	7	5	227	1	0	1	1	0	0	0	0	0	6241	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-CV-5434-01A-01D-1683-08		49208295	106062265	164	41590											
CCNB3	85417	broad.mit.edu	37	chrX	50051787	50051787	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgacagtgatgatgcgttTgttatagagccaatgacttt	11	14	11	5	1	0	5	0	4	0	1	0	5	0	5	1	0	2	2	1	0	3	4	rs147712690	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:50051787T>A	ENST00000376042.1	+	6	916	c.618T>A	c.(616-618)ttT>ttA	p.F206L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.F206L			Q8WWL7	CCNB3_HUMAN	cyclin B3	206					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATGATGCGTTTGTTATAGAGC	0.413													36	4					0	0	0	0	A	50051787	T	A	50051787	3	1	227	1	0	0	0	0	1	0	0	0	2943	1809	63	5	632	5	CCNB3	23	50051787	Missense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08	843492	50051787	105218773	165	41591											
NXF5	55998	broad.mit.edu	37	chrX	101092763	101092763	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacacttacaggggtcttTgagaatttttatattcctgc	10	15	7	9	0	1	1	0	1	1	1	2	2	2	1	1	2	2	0	1	2	4	7			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:101092763T>A	ENST00000537026.1	-	14	1269	c.910A>T	c.(910-912)Aaa>Taa	p.K304*	NXF5_ENST00000473265.2_Nonsense_Mutation_p.K304*|NXF5_ENST00000361708.2_Nonsense_Mutation_p.K304*	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	304	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CAGGGGTCTTTGAGAATTTTT	0.507													94	23					0	0	0	0	A	101092763	T	A	101092763	4	1	227	1	0	0	0	0	0	1	0	0	10857	1821	63	5	199	5	NXF5	23	101092763	Nonsense_Mutation	SNP	T	TCGA-CV-5434-01A-01D-1683-08	51040976	101092763	54177797	166	41592											
ZMAT1	84460	broad.mit.edu	37	chrX	101139651	101139651	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtatctacgggtttccaAagaactctcttccatctttc	8	16	5	12	1	4	1	0	0	4	1	8	1	6	1	2	1	2	2	2	1	4	5			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:101139651A>T	ENST00000372782.3	-	7	795	c.748T>A	c.(748-750)Ttg>Atg	p.L250M	ZMAT1_ENST00000540921.1_Missense_Mutation_p.L250M|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.L79M	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	79						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CGGGTTTCCAAAGAACTCTCT	0.443													39	53					0	0	0	0	T	101139651	A	T	101139651	3	4	227	1	0	0	0	0	1	0	0	0	17786	11	1	5	1172	5	ZMAT1	23	101139651	Missense_Mutation	SNP	A	TCGA-CV-5434-01A-01D-1683-08	46888	101139651	54130909	167	41593											
COL4A5	1287	broad.mit.edu	37	chrX	107865911	107865911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacattgattttaggtgatGatggcttgcagggtcagcca	10	12	12	7	0	1	3	1	3	0	0	1	3	1	3	1	3	2	2	1	3	1	4			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:107865911G>A	ENST00000328300.6	+	33	3017	c.2773G>A	c.(2773-2775)Gat>Aat	p.D925N	COL4A5_ENST00000361603.2_Missense_Mutation_p.D925N	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	925	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTAGGTGATGATGGCTTGCA	0.413									Alport syndrome with Diffuse Leiomyomatosis				19	40					0	0	0	0	A	107865911	G	A	107865911	3	1	227	1	0	0	0	0	1	0	0	0	3724	1290	45	2	2903	2	COL4A5	23	107865911	Missense_Mutation	SNP	G	TCGA-CV-5434-01A-01D-1683-08	6726260	107865911	47404649	168	41594											
MTCP1	4515	broad.mit.edu	37	chrX	154294265	154294265	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaggtgatcgggtggagcCcccacatcctctcctgccat	7	8	11	15	1	1	2	0	1	1	1	4	3	2	3	5	3	2	0	5	3	0	0			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:154294265C>T	ENST00000369476.3	-	2	600	c.21G>A	c.(19-21)ggG>ggA	p.G7G	CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Silent_p.G7G|MTCP1_ENST00000482244.1_Intron	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	7					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGGTGGAGCCCCCACATCCT	0.572			T	TRA@	T cell prolymphocytic leukemia								11	16					0	0	0	0	T	154294265	C	T	154294265	2	4	227	1	0	0	0	0	0	0	0	1	9985	610	22	4		4	MTCP1	23	154294265	Silent	SNP	C	TCGA-CV-5434-01A-01D-1683-08	46428354	154294265	976295	169	41595											
NBPF1	55672	broad.mit.edu	37	chr1	16902841	16902841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtcctgcccctgggaCttgtctggctcatccggagt	4	11	14	12	1	2	0	1	0	1	0	4	3	4	3	4	5	1	1	4	5	0	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:16902841C>A	ENST00000430580.2	-	19	2927	c.2040G>T	c.(2038-2040)aaG>aaT	p.K680N	NBPF1_ENST00000432949.1_Missense_Mutation_p.K138N|NBPF1_ENST00000287968.8_Missense_Mutation_p.K45N	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	680						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCCCCTGGGACTTGTCTGGCT	0.582													18	653					3.01185e-09	3.45726e-09	1	0	A	16902841	C	A	16902841	3	1	228	1	0	0	0	0	1	0	0	0	10262	564	20	4	1428	4	NBPF1	1	16902841	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08		16902841	232347780	1	41596											
IGSF21	84966	broad.mit.edu	37	chr1	18691843	18691843	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccgtgacctggatgacAccaagatgcagaagtcactg	12	7	11	11	1	1	4	1	2	0	2	1	5	1	5	3	1	2	2	3	1	2	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:18691843A>C	ENST00000251296.1	+	6	1050	c.667A>C	c.(667-669)Acc>Ccc	p.T223P		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	223						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCTGGATGACACCAAGATGCA	0.652													16	47					0	0	0	0	C	18691843	A	C	18691843	3	2	228	1	0	0	0	0	1	0	0	0	7652	159	6	5	689	5	IGSF21	1	18691843	Missense_Mutation	SNP	A	TCGA-CV-5435-01A-01D-1683-08	1789002	18691843	230558778	2	41597											
CSMD2	114784	broad.mit.edu	37	chr1	34204867	34204867	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagatggagctgcccagctGgaggctgtccccaaaccgtt	8	7	14	12	1	0	1	0	0	0	1	1	4	1	3	4	4	4	4	4	4	1	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:34204867G>C	ENST00000373381.4	-	15	2418	c.2242C>G	c.(2242-2244)Cag>Gag	p.Q748E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	708	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGCCCAGCTGGAGGCTGTCC	0.572													32	101					0	0	0	0	C	34204867	G	C	34204867	3	2	228	1	0	0	0	0	1	0	0	0	3977	1357	47	4	8561	4	CSMD2	1	34204867	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	15513024	34204867	215045754	3	41598											
MACF1	23499	broad.mit.edu	37	chr1	39833905	39833905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgagctcttgtggctttgCgctggacttgtgccagcatc	5	13	12	11	1	1	1	0	1	1	0	2	2	1	2	1	2	4	4	1	2	0	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:39833905C>T	ENST00000564288.1	+	50	13634	c.12857C>T	c.(12856-12858)gCg>gTg	p.A4286V	MACF1_ENST00000361689.2_Missense_Mutation_p.A2224V|MACF1_ENST00000372915.3_Missense_Mutation_p.A4291V|MACF1_ENST00000317713.7_Missense_Mutation_p.A2224V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.A2726V|MACF1_ENST00000545844.1_Missense_Mutation_p.A2224V|MACF1_ENST00000567887.1_Missense_Mutation_p.A4323V|MACF1_ENST00000539005.1_Missense_Mutation_p.A2224V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4291					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGGCTTTGCGCTGGACTTG	0.453													31	48					0	0	0	0	T	39833905	C	T	39833905	3	4	228	1	0	0	0	0	1	0	0	0	9209	768	27	1	13000	1	MACF1	1	39833905	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	5629038	39833905	209416716	4	41599											
CYP4X1	260293	broad.mit.edu	37	chr1	47515807	47515807	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcctcaagcccaagaaTgggatgtatttgcacctgaa	12	12	8	9	0	1	2	1	1	0	1	2	3	2	3	3	1	2	2	3	1	6	4			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:47515807T>G	ENST00000371901.3	+	12	1741	c.1491T>G	c.(1489-1491)aaT>aaG	p.N497K	CYP4X1_ENST00000538609.1_Missense_Mutation_p.N496K	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	497						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AGCCCAAGAATGGGATGTATT	0.408													19	116					0	0	0	0	G	47515807	T	G	47515807	3	3	228	1	0	0	0	0	1	0	0	0	4225	1461	51	5	1537	5	CYP4X1	1	47515807	Missense_Mutation	SNP	T	TCGA-CV-5435-01A-01D-1683-08	7681902	47515807	201734814	5	41600											
ALG6	29929	broad.mit.edu	37	chr1	63879791	63879791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagattaaggatattttGccacgtcacatccaattaat	14	13	6	8	1	1	2	1	1	0	1	2	3	2	3	2	1	1	0	2	1	5	5			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:63879791G>T	ENST00000371108.4	+	10	1181	c.876G>T	c.(874-876)ttG>ttT	p.L292F	ALG6_ENST00000263440.4_Missense_Mutation_p.L294F	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	292					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGGATATTTTGCCACGTCACA	0.284													19	45					3.62473e-10	4.34435e-10	1	0	T	63879791	G	T	63879791	3	4	228	1	0	0	0	0	1	0	0	0	522	1310	46	4	910	4	ALG6	1	63879791	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	16363984	63879791	185370830	6	41601											
LPPR4	9890	broad.mit.edu	37	chr1	99772407	99772407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaccccagtagagggcagCgaaattggctcagagacgct	11	6	13	11	2	2	2	2	0	0	2	2	4	2	2	2	2	1	4	2	2	2	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:99772407C>T	ENST00000370185.3	+	7	2630	c.2133C>T	c.(2131-2133)agC>agT	p.S711S	LPPR4_ENST00000370184.1_Silent_p.S553S|LPPR4_ENST00000457765.1_Silent_p.S653S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		711							phosphatidate phosphatase activity	p.S711R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TAGAGGGCAGCGAAATTGGCT	0.522													6	28					0	0	0	0	T	99772407	C	T	99772407	2	4	228	1	0	0	0	0	0	0	0	1	8991	767	27	1		1	LPPR4	1	99772407	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08	35892616	99772407	149478214	7	41602											
OLFM3	118427	broad.mit.edu	37	chr1	102269859	102269859	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcacctggtggccatTgttccaggcatagagagctc	10	8	12	11	0	0	1	0	0	0	1	2	3	1	1	3	3	3	4	3	3	2	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:102269859T>C	ENST00000370103.4	-	6	1525	c.1312A>G	c.(1312-1314)Aat>Gat	p.N438D	OLFM3_ENST00000338858.5_Missense_Mutation_p.N458D|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	458	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGGTGGCCATTGTTCCAGGCA	0.418													54	34					0	0	0	0	C	102269859	T	C	102269859	3	2	228	1	0	0	0	0	1	0	0	0	10925	1812	63	5	68	5	OLFM3	1	102269859	Missense_Mutation	SNP	T	TCGA-CV-5435-01A-01D-1683-08	2497452	102269859	146980762	8	41603											
TRIM33	51592	broad.mit.edu	37	chr1	114964164	114964164	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgggacctcggtttgcaTttgccatagttgctgtagta	6	15	13	7	1	0	0	0	0	0	0	1	1	0	1	2	3	3	6	2	3	3	6			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:114964164T>A	ENST00000358465.2	-	11	2038	c.1955A>T	c.(1954-1956)aAt>aTt	p.N652I	TRIM33_ENST00000450349.2_Missense_Mutation_p.N260I|TRIM33_ENST00000369543.2_Missense_Mutation_p.N652I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	652					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		TCGGTTTGCATTTGCCATAGT	0.502			T	RET	papillary thyroid								30	45					0	0	0	0	A	114964164	T	A	114964164	3	1	228	1	0	0	0	0	1	0	0	0	16602	1493	52	5	1468	5	TRIM33	1	114964164	Missense_Mutation	SNP	T	TCGA-CV-5435-01A-01D-1683-08	12694305	114964164	134286457	9	41604											
FLG	2312	broad.mit.edu	37	chr1	152283935	152283935	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgctcgtggtgggatcCttgtcttcgtccagtgctgg	2	14	14	11	2	1	0	0	0	1	0	5	1	3	1	3	3	3	2	3	3	0	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:152283935C>A	ENST00000368799.1	-	3	3462	c.3427G>T	c.(3427-3429)Gga>Tga	p.G1143*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1143	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGGGATCCTTGTCTTCGT	0.592									Ichthyosis				12	285					1.05317e-09	1.24396e-09	1	0	A	152283935	C	A	152283935	4	1	228	1	0	0	0	0	0	1	0	0	5967	690	24	4	8762	4	FLG	1	152283935	Nonsense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	37319771	152283935	96966686	10	41605											
ADAR	103	broad.mit.edu	37	chr1	154562371	154562371	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtggctcagcatggctaTctggtcatggaaggtgctgc	6	10	15	10	1	3	0	2	0	1	0	3	1	3	1	1	6	3	4	1	6	2	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:154562371T>C	ENST00000368474.4	-	8	2729	c.2530A>G	c.(2530-2532)Ata>Gta	p.I844V	ADAR_ENST00000368471.3_Missense_Mutation_p.I549V|ADAR_ENST00000292205.5_Missense_Mutation_p.I887V	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	844					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AGCATGGCTATCTGGTCATGG	0.552													22	16					0	0	0	0	C	154562371	T	C	154562371	3	2	228	1	0	0	0	0	1	0	0	0	281	1435	50	5	1182	5	ADAR	1	154562371	Missense_Mutation	SNP	T	TCGA-CV-5435-01A-01D-1683-08	2278436	154562371	94688250	11	41606											
SEC16B	89866	broad.mit.edu	37	chr1	177909817	177909817	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcgtctttctaaaacCagaggatctgacagcttcag	11	10	8	12	1	4	2	1	1	3	1	4	3	4	3	2	1	3	1	2	1	2	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:177909817C>T	ENST00000308284.6	-	17	2144	c.2055G>A	c.(2053-2055)ctG>ctA	p.L685L	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	685					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTTCTAAAACCAGAGGATCTG	0.547													7	26					0	0	0	0	T	177909817	C	T	177909817	2	4	228	1	0	0	0	0	0	0	0	1	14074	581	21	4		4	SEC16B	1	177909817	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08	23347446	177909817	71340804	12	41607											
CFH	3075	broad.mit.edu	37	chr1	196684815	196684815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggactatgaatgccatGatggttatgaaagcaatact	14	12	9	6	0	0	3	0	3	0	0	0	4	0	4	1	2	3	2	1	2	6	4			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:196684815G>T	ENST00000367429.4	+	11	1852	c.1612G>T	c.(1612-1614)Gat>Tat	p.D538Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	538	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGAATGCCATGATGGTTATGA	0.378													27	112					3.65163e-15	4.57858e-15	1	0	T	196684815	G	T	196684815	3	4	228	1	0	0	0	0	1	0	0	0	3312	1290	45	2	1672	2	CFH	1	196684815	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	18774998	196684815	52565806	13	41608											
ASPM	259266	broad.mit.edu	37	chr1	197111716	197111716	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctcgtttttataactctTagatttacttaatattggat	11	20	4	6	1	1	1	0	0	1	1	2	2	1	2	1	1	3	1	1	1	7	11			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:197111716T>C	ENST00000367409.4	-	3	1922	c.1666A>G	c.(1666-1668)Aag>Gag	p.K556E	ASPM_ENST00000294732.7_Missense_Mutation_p.K556E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	556					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTATAACTCTTAGATTTACTT	0.353													42	54					0	0	0	0	C	197111716	T	C	197111716	3	2	228	1	0	0	0	0	1	0	0	0	1060	1763	61	5	8871	5	ASPM	1	197111716	Missense_Mutation	SNP	T	TCGA-CV-5435-01A-01D-1683-08	426901	197111716	52138905	14	41609											
CNTN2	6900	broad.mit.edu	37	chr1	205038984	205038984	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagtaccagaacggagaCggcttcggctacctgctgtc	8	7	14	12	4	0	2	0	0	0	2	2	4	0	3	2	4	4	4	2	4	3	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:205038984C>T	ENST00000331830.4	+	18	2510	c.2226C>T	c.(2224-2226)gaC>gaT	p.D742D		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	742	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAACGGAGACGGCTTCGGCT	0.667													85	143					0	0	0	0	T	205038984	C	T	205038984	2	4	228	1	0	0	0	0	0	0	0	1	3671	535	19	1		1	CNTN2	1	205038984	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08	7927268	205038984	44211637	15	41610											
PFKFB2	5208	broad.mit.edu	37	chr1	207242833	207242833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagaagagtttgcacttcGagatcaagagaagtatctgt	13	10	10	8	1	2	4	1	0	1	4	3	6	2	4	1	0	1	3	1	0	4	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:207242833G>A	ENST00000367080.3	+	11	1176	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	PFKFB2_ENST00000367079.2_Missense_Mutation_p.R351Q|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R318Q|PFKFB2_ENST00000473310.1_3'UTR|PFKFB2_ENST00000541914.1_Missense_Mutation_p.R165Q|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R253Q	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	351	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TTTGCACTTCGAGATCAAGAG	0.458													14	67					0	0	0	0	A	207242833	G	A	207242833	3	1	228	1	0	0	0	0	1	0	0	0	11833	1058	37	1	1090	1	PFKFB2	1	207242833	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	2203849	207242833	42007788	16	41611											
RPS6KC1	26750	broad.mit.edu	37	chr1	213414710	213414710	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaaatcagaacctttgaaaCcattctttactcttccagat	14	14	3	10	0	3	3	1	1	2	2	4	3	4	3	3	0	3	0	3	0	5	6			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:213414710C>G	ENST00000366960.3	+	11	2041	c.1891C>G	c.(1891-1893)Cca>Gca	p.P631A	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.P619A|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.P334A|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.P419A	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	631					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACCTTTGAAACCATTCTTTAC	0.403													25	43					0	0	0	0	G	213414710	C	G	213414710	3	3	228	1	0	0	0	0	1	0	0	0	13743	507	18	4	1933	4	RPS6KC1	1	213414710	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	6171877	213414710	35835911	17	41612											
OR11L1	391189	broad.mit.edu	37	chr1	248004560	248004560	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacatagggccccagtgtCagaaaaaaacaaatgcacag	20	4	8	9	0	1	1	1	0	0	1	1	1	1	1	2	1	3	1	2	1	7	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:248004560C>A	ENST00000355784.2	-	1	694	c.639G>T	c.(637-639)ctG>ctT	p.L213L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCCCAGTGTCAGAAAAAAAC	0.507													28	39					1.16021e-09	1.36053e-09	1	0	A	248004560	C	A	248004560	2	1	228	1	0	0	0	0	0	0	0	1	11001	813	29	2		2	OR11L1	1	248004560	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08	34589850	248004560	1246061	18	41613											
OR2T8	343172	broad.mit.edu	37	chr1	248084827	248084827	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcccatattgcggtgcaCacgagatcgatcacttcttc	8	12	8	13	3	2	1	1	0	1	1	5	3	3	1	1	1	2	2	1	1	1	5			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:248084827C>A	ENST00000319968.4	+	1	508	c.508C>A	c.(508-510)Cac>Aac	p.H170N		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTGCGGTGCACACGAGATCGA	0.567													3	24					3.07112e-06	3.48791e-06	1	0	A	248084827	C	A	248084827	3	1	228	1	0	0	0	0	1	0	0	0	11101	478	17	4	510	4	OR2T8	1	248084827	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	80267	248084827	1165794	19	41614											
OR2T33	391195	broad.mit.edu	37	chr1	248436609	248436609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagtgatcgatctcgtGtgcaccacaatatgggaagc	13	8	12	8	2	1	2	0	1	1	1	3	5	1	3	1	1	2	1	1	1	5	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:248436609G>T	ENST00000318021.2	-	1	529	c.508C>A	c.(508-510)Cac>Aac	p.H170N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCGATCTCGTGTGCACCACAA	0.557													4	44					4.68919e-08	5.2713e-08	1	0	T	248436609	G	T	248436609	3	4	228	1	0	0	0	0	1	0	0	0	11095	1377	48	4	457	4	OR2T33	1	248436609	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	351782	248436609	814012	20	41615											
C2orf16	84226	broad.mit.edu	37	chr2	27804812	27804812	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagagaaaagccatcaCagtccctctgagagaagcca	14	5	8	14	0	3	3	2	1	1	2	4	5	4	3	4	0	2	0	4	0	3	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:27804812C>T	ENST00000408964.2	+	1	5424	c.5373C>T	c.(5371-5373)caC>caT	p.H1791H	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1791	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAAGCCATCACAGTCCCTCTG	0.542													27	150					0	0	0	0	T	27804812	C	T	27804812	2	4	228	1	0	0	0	0	0	0	0	1	2177	477	17	4		4	C2orf16	2	27804812	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08		27804812	215394561	21	41616											
ADD2	119	broad.mit.edu	37	chr2	70901925	70901925	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcgtctttggtatcctcGtctcccttggacatcagctg	6	14	9	12	2	3	0	1	0	2	0	7	2	4	1	2	2	1	2	2	2	2	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:70901925G>A	ENST00000264436.3	-	14	2070	c.1626C>T	c.(1624-1626)gaC>gaT	p.D542D	ADD2_ENST00000355733.3_Silent_p.D542D|ADD2_ENST00000407644.2_Silent_p.D542D	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	542					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGGTATCCTCGTCTCCCTTGG	0.557													46	30					0	0	0	0	A	70901925	G	A	70901925	2	1	228	1	0	0	0	0	0	0	0	1	305	1136	40	1		1	ADD2	2	70901925	Silent	SNP	G	TCGA-CV-5435-01A-01D-1683-08	43097113	70901925	172297448	22	41617											
CCT7	10574	broad.mit.edu	37	chr2	73470213	73470213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctatgtggaggaaggtttaCacccccagatcatcattcga	11	10	9	11	1	2	1	2	0	0	1	3	4	2	3	3	3	1	1	3	3	3	4			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:73470213C>T	ENST00000539919.1	+	5	588	c.217C>T	c.(217-219)Cac>Tac	p.H73Y	CCT7_ENST00000538797.1_Silent_p.Y6Y|CCT7_ENST00000537131.1_Missense_Mutation_p.H17Y|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000540468.1_Missense_Mutation_p.H30Y|CCT7_ENST00000258091.5_Missense_Mutation_p.H117Y|CCT7_ENST00000473786.1_3'UTR	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	117					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GGAAGGTTTACACCCCCAGAT	0.517													6	74					0	0	0	0	T	73470213	C	T	73470213	3	4	228	1	0	0	0	0	1	0	0	0	2988	478	17	4	363	4	CCT7	2	73470213	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	2568288	73470213	169729160	23	41618											
TET3	200424	broad.mit.edu	37	chr2	74274034	74274049	+	Frame_Shift_Del	DEL	GATCTCTCCCCAAGAG	GATCTCTCCCCAAGAG	-																															ctcagctcagaggtgccccaGatctctccccaagagggcct																										TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:74274034_74274049delGATCTCTCCCCAAGAG	ENST00000409262.3	+	1	585_600	c.585_600delGATCTCTCCCCAAGAG	c.(583-600)cafs	p.QISPQE195fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	195							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGTGCCCCAGATCTCTCCCCAAGAGGGCCTGCCCC	0.644													13	16	---	---	---	---					-	74274049	GATCTCTCCCCAAGAG	-	74274034	7	5	228	1	0	1	0	1	0	0	0	0	15865	933	33	0	587	0	TET3	2	74274034	Frame_Shift_Del	DEL	GATCTCTCCCCAAGAG	TCGA-CV-5435-01A-01D-1683-08	803821	74274034	168925339	24	41619											
MOGS	7841	broad.mit.edu	37	chr2	74689333	74689333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaaagccaagtcgtcaGggtcaccaacctctagcata	13	6	11	11	1	3	0	2	0	1	0	4	2	3	2	3	3	3	1	3	3	5	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:74689333G>T	ENST00000233616.4	-	4	1745	c.1583C>A	c.(1582-1584)cCt>cAt	p.P528H	MOGS_ENST00000452063.2_Missense_Mutation_p.P422H|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	528					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CAAGTCGTCAGGGTCACCAAC	0.597													24	86					4.81078e-24	6.22347e-24	1	0	T	74689333	G	T	74689333	3	4	228	1	0	0	0	0	1	0	0	0	9767	1000	35	4	934	4	MOGS	2	74689333	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	415299	74689333	168510040	25	41620											
PRKRA	8575	broad.mit.edu	37	chr2	179309173	179309173	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgaaccaataggattaagCtggttctttggttgcttgga	11	14	11	5	0	1	1	0	1	1	0	1	3	1	3	1	4	3	4	1	4	5	6			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:179309173C>T	ENST00000325748.4	-	4	572	c.372G>A	c.(370-372)caG>caA	p.Q124Q	PRKRA_ENST00000487082.1_Silent_p.Q99Q|PRKRA_ENST00000438687.3_Silent_p.Q11Q|PRKRA_ENST00000432031.2_Silent_p.Q113Q	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	124	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TAGGATTAAGCTGGTTCTTTG	0.358													24	31					0	0	0	0	T	179309173	C	T	179309173	2	4	228	1	0	0	0	0	0	0	0	1	12604	796	28	4		4	PRKRA	2	179309173	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08	104619840	179309173	63890200	26	41621											
TTN	7273	broad.mit.edu	37	chr2	179430729	179430729	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgacctttgcccctccAtcaatgatgggtggctccca	6	13	8	14	0	2	2	1	2	1	0	4	2	4	2	5	2	1	1	5	2	1	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:179430729A>G	ENST00000589042.1	-	326	80354	c.80130T>C	c.(80128-80130)gaT>gaC	p.D26710D	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.D25069D|TTN_ENST00000359218.5_Silent_p.D17770D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.D17837D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.D24142D|TTN_ENST00000460472.2_Silent_p.D17645D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25069							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)			TTGCCCCTCCATCAATGATGG	0.433													33	132					0	0	0	0	G	179430729	A	G	179430729	2	3	228	1	0	0	0	0	0	0	0	1	16831	214	8	5		5	TTN	2	179430729	Silent	SNP	A	TCGA-CV-5435-01A-01D-1683-08	121556	179430729	63768644	27	41622											
PPP1R1C	151242	broad.mit.edu	37	chr2	182981993	182981993	+	Frame_Shift_Del	DEL	A	A	-																															ctgaagaagaagaaggcaccAatgaaagagaggagcagcgg																										TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:182981993delA	ENST00000409137.3	+	5	544	c.301delA	c.(301-303)atfs	p.N101fs	PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Frame_Shift_Del_p.N101fs|PPP1R1C_ENST00000409702.1_Frame_Shift_Del_p.N101fs|PPP1R1C_ENST00000280295.3_Frame_Shift_Del_p.N108fs	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	101					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			AGAAGGCACCAATGAAAGAGA	0.368													2	4	---	---	---	---					-	182981993	A	-	182981993	7	5	228	1	0	1	0	1	0	0	0	0	12445	130	5	0	319	0	PPP1R1C	2	182981993	Frame_Shift_Del	DEL	A	TCGA-CV-5435-01A-01D-1683-08	3551264	182981993	60217380	28	41623											
NDUFB3	4709	broad.mit.edu	37	chr2	201943659	201943659	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cataaaatggaacttccagaTtatagacaatggaagataga	19	9	8	5	0	0	4	0	0	0	4	1	6	1	6	1	2	1	0	1	2	8	5			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:201943659T>G	ENST00000237889.4	+	2	377	c.54T>G	c.(52-54)gaT>gaG	p.D18E	NDUFB3_ENST00000433898.1_Missense_Mutation_p.D18E|NDUFB3_ENST00000454214.1_Missense_Mutation_p.D18E	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	18					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)|urinary_tract(1)	3					NADH(DB00157)	AACTTCCAGATTATAGACAAT	0.408													4	49					0	0	0	0	G	201943659	T	G	201943659	3	3	228	1	0	0	0	0	1	0	0	0	10352	1490	52	5	56	5	NDUFB3	2	201943659	Missense_Mutation	SNP	T	TCGA-CV-5435-01A-01D-1683-08	18961666	201943659	41255714	29	41624											
TUBA4A	7277	broad.mit.edu	37	chr2	220115525	220115525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacactttaccatctggttgGcaggctcaaagcaggcattg	10	10	10	11	0	2	0	1	0	1	0	2	0	2	0	1	4	2	5	1	4	2	4			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:220115525G>A	ENST00000392088.2	-	4	1406	c.851C>T	c.(850-852)gCc>gTc	p.A284V	TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Missense_Mutation_p.A299V	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	299					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCTGGTTGGCAGGCTCAAA	0.572													18	83					0	0	0	0	A	220115525	G	A	220115525	3	1	228	1	0	0	0	0	1	0	0	0	16845	1203	42	4	454	4	TUBA4A	2	220115525	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	18171866	220115525	23083848	30	41625											
CUL3	8452	broad.mit.edu	37	chr2	225400286	225400286	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcatcaccatagctgtttGatgatcattccaagcttgat	12	14	6	9	0	3	3	3	3	0	0	4	3	4	3	2	0	2	3	2	0	3	4			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:225400286G>A	ENST00000264414.4	-	3	675	c.337C>T	c.(337-339)Caa>Taa	p.Q113*	CUL3_ENST00000409096.1_Nonsense_Mutation_p.Q89*|CUL3_ENST00000344951.4_Nonsense_Mutation_p.Q47*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.Q89*|CUL3_ENST00000432260.2_5'UTR	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	113					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATAGCTGTTTGATGATCATTC	0.333													20	8					0	0	0	0	A	225400286	G	A	225400286	4	1	228	1	0	0	0	0	0	1	0	0	4088	1299	45	2	2025	2	CUL3	2	225400286	Nonsense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	5284761	225400286	17799087	31	41626											
GIGYF2	26058	broad.mit.edu	37	chr2	233660784	233660784	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttactagcaagctgagaaaAtggtggcttatctccaagac	13	10	10	8	0	1	2	0	1	1	2	2	3	1	2	1	2	3	4	1	2	7	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:233660784A>G	ENST00000373566.3	+	15	1755	c.1558A>G	c.(1558-1560)Atg>Gtg	p.M520V	GIGYF2_ENST00000409480.1_Missense_Mutation_p.M520V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.M498V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.M329V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.M519V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.M492V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.M498V			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	498					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCTGAGAAAATGGTGGCTTA	0.383													14	64					0	0	0	0	G	233660784	A	G	233660784	3	3	228	1	0	0	0	0	1	0	0	0	6429	101	4	5	1608	5	GIGYF2	2	233660784	Missense_Mutation	SNP	A	TCGA-CV-5435-01A-01D-1683-08	8260498	233660784	9538589	32	41627											
GPR27	2850	broad.mit.edu	37	chr3	71804252	71804252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgagggactgcttcagggCccagttcccctgctgccaga	6	8	13	14	0	1	2	1	1	0	1	2	3	2	3	4	2	3	4	4	2	0	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:71804252C>T	ENST00000304411.2	+	1	1052	c.1052C>T	c.(1051-1053)gCc>gTc	p.A351V		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	351						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TGCTTCAGGGCCCAGTTCCCC	0.657													9	5					0	0	0	0	T	71804252	C	T	71804252	3	4	228	1	0	0	0	0	1	0	0	0	6734	739	26	4	1054	4	GPR27	3	71804252	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08		71804252	126218178	33	41628											
OR5H2	79310	broad.mit.edu	37	chr3	98002139	98002139	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccatatgcaaacctttactAtatccagtgattatgaacaa	15	12	5	9	0	0	2	0	2	0	0	1	2	1	2	3	0	4	1	3	0	8	6			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:98002139A>G	ENST00000355273.2	+	1	408	c.408A>G	c.(406-408)ctA>ctG	p.L136L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AACCTTTACTATATCCAGTGA	0.368													22	76					0	0	0	0	G	98002139	A	G	98002139	2	3	228	1	0	0	0	0	0	0	0	1	11233	436	16	5		5	OR5H2	3	98002139	Silent	SNP	A	TCGA-CV-5435-01A-01D-1683-08	26197887	98002139	100020291	34	41629											
KLF15	28999	broad.mit.edu	37	chr3	126071260	126071260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagctgagagctggctgcagGcatccaagtccttgctgttg	7	10	13	11	0	0	1	0	1	0	1	2	2	2	1	2	2	4	7	2	2	1	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:126071260G>A	ENST00000296233.3	-	2	736	c.506C>T	c.(505-507)gCc>gTc	p.A169V		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	169						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CTGGCTGCAGGCATCCAAGTC	0.612													25	22					0	0	0	0	A	126071260	G	A	126071260	3	1	228	1	0	0	0	0	1	0	0	0	8395	1203	42	4	752	4	KLF15	3	126071260	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	28069121	126071260	71951170	35	41630											
ASTE1	28990	broad.mit.edu	37	chr3	130743569	130743570	+	Frame_Shift_Ins	INS	-	-	G																															caagggaaaagcatttggcaINSgggatatagttttgtgtgcc																										TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:130743569_130743570insG	ENST00000264992.3	-	3	1022_1023	c.581_582insC	c.(580-582)cgcfs	p.R194fs	ASTE1_ENST00000514044.1_Frame_Shift_Ins_p.R194fs	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	194					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						AGCATTTGGCAGGGATATAGTT	0.396													34	84	---	---	---	---					G	130743570	-	G	130743569	7	5	228	1	0	1	1	0	0	0	0	0	1066	175	7	0	1473	0	ASTE1	3	130743569	Frame_Shift_Ins	INS	-	TCGA-CV-5435-01A-01D-1683-08	4672309	130743569	67278861	36	41631											
PLCH1	23007	broad.mit.edu	37	chr3	155199435	155199435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgggtacagggacatgCatatcttgagcactagattg	10	12	12	7	0	1	2	0	1	1	1	1	3	1	3	0	2	4	4	0	2	3	6			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:155199435C>A	ENST00000460012.1	-	23	4647	c.4290G>T	c.(4288-4290)atG>atT	p.M1430I	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.M1430I|PLCH1_ENST00000414191.1_Missense_Mutation_p.M1430I|PLCH1_ENST00000340059.7_Missense_Mutation_p.M1468I|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1468					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGGGACATGCATATCTTGAG	0.473													14	121					4.3838e-07	4.89424e-07	1	0	A	155199435	C	A	155199435	3	1	228	1	0	0	0	0	1	0	0	0	12109	710	25	4	681	4	PLCH1	3	155199435	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	24455866	155199435	42822995	37	41632											
NLGN1	22871	broad.mit.edu	37	chr3	173998976	173998976	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccattacaatgattccCaacactataccagggattca	16	9	4	12	0	1	1	1	1	0	0	2	2	2	2	3	1	4	0	3	1	6	5			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:173998976C>T	ENST00000457714.1	+	7	2784	c.2355C>T	c.(2353-2355)ccC>ccT	p.P785P	NLGN1_ENST00000545397.1_Silent_p.P785P|NLGN1_ENST00000401917.3_Silent_p.P825P|NLGN1_ENST00000361589.4_Silent_p.P785P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	802					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAATGATTCCCAACACTATAC	0.483													18	77					0	0	0	0	T	173998976	C	T	173998976	2	4	228	1	0	0	0	0	0	0	0	1	10531	581	21	4		4	NLGN1	3	173998976	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08	18799541	173998976	24023454	38	41633											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			38	31					0	0	0	0	A	178936091	G	A	178936091	3	1	228	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	4937115	178936091	19086339	39	41634											
DLG1	1739	broad.mit.edu	37	chr3	196865135	196865135	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttccattattttttctgAcactggtttccttcttttta	6	24	3	8	0	2	1	0	1	2	0	4	1	4	1	2	1	0	1	2	1	3	11			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:196865135A>C	ENST00000346964.2	-	10	1129	c.940T>G	c.(940-942)Tca>Gca	p.S314A	DLG1_ENST00000422288.1_Missense_Mutation_p.S263A|DLG1_ENST00000357674.4_Missense_Mutation_p.S281A|DLG1_ENST00000452595.1_Missense_Mutation_p.S198A|DLG1_ENST00000314062.3_Missense_Mutation_p.S263A|DLG1_ENST00000450955.1_Missense_Mutation_p.S281A|DLG1_ENST00000448528.2_Missense_Mutation_p.S314A|DLG1_ENST00000443183.1_Missense_Mutation_p.S198A|DLG1_ENST00000419354.1_Missense_Mutation_p.S314A|DLG1_ENST00000392382.2_Missense_Mutation_p.S281A	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	314					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATTTTTTCTGACACTGGTTTC	0.338													69	44					0	0	0	0	C	196865135	A	C	196865135	3	2	228	1	0	0	0	0	1	0	0	0	4591	275	10	5	1946	5	DLG1	3	196865135	Missense_Mutation	SNP	A	TCGA-CV-5435-01A-01D-1683-08	17929044	196865135	1157295	40	41635											
TXK	7294	broad.mit.edu	37	chr4	48096214	48096214	+	Nonsense_Mutation	SNP	C	C	A																															ataatgttttatggcagcctCcgtacttctacaatcaagaa																										TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:48096214C>A	ENST00000264316.4	-	8	674	c.589G>T	c.(589-591)Gag>Tag	p.E197*	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	197	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						ATGGCAGCCTCCGTACTTCTA	0.368													4	30					0.00909568	0.00938352	1	0	A	48096214	C	A	48096214	4	1	228	1	0	0	0	0	0	1	0	0	16882	864	30	2	1026	2	TXK	4	48096214	Nonsense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08		48096214	143058062	41	41636	315	2									
TXK	7294	broad.mit.edu	37	chr4	48096215	48096215	+	Silent	SNP	C	C	A																															taatgttttatggcagcctcCgtacttctacaatcaagaaa																										TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:48096215C>A	ENST00000264316.4	-	8	673	c.588G>T	c.(586-588)acG>acT	p.T196T	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	196	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TGGCAGCCTCCGTACTTCTAC	0.373													4	30					0.00909568	0.00938352	1	0	A	48096215	C	A	48096215	2	1	228	1	0	0	0	0	0	0	0	1	16882	639	23	3		3	TXK	4	48096215	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08	1	48096215	143058061	42	41637	315	2									
USP46	64854	broad.mit.edu	37	chr4	53470719	53470719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacaataatatttttgttCactacacagtgtttctgtgt	10	19	5	7	0	3	0	2	0	1	0	3	0	3	0	0	0	1	2	0	0	4	8			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:53470719C>T	ENST00000441222.2	-	6	854	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	USP46_ENST00000508499.1_Missense_Mutation_p.E217K|USP46_ENST00000451218.2_Missense_Mutation_p.E197K	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	224					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TATTTTTGTTCACTACACAGT	0.358													21	13					0	0	0	0	T	53470719	C	T	53470719	3	4	228	1	0	0	0	0	1	0	0	0	17173	835	29	2	446	2	USP46	4	53470719	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	5374504	53470719	137683557	43	41638											
UGT2A3	79799	broad.mit.edu	37	chr4	69796456	69796456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccattcattccaccatgaGtgataaaagctttggttttg	10	15	7	9	0	1	2	1	2	0	0	3	2	3	2	3	1	1	2	3	1	2	6			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:69796456G>C	ENST00000251566.4	-	5	1142	c.1112C>G	c.(1111-1113)aCt>aGt	p.T371S	UGT2A3_ENST00000420231.2_Missense_Mutation_p.T82S	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	371						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCACCATGAGTGATAAAAGC	0.358													11	5					0	0	0	0	C	69796456	G	C	69796456	3	2	228	1	0	0	0	0	1	0	0	0	17051	1029	36	4	479	4	UGT2A3	4	69796456	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	16325737	69796456	121357820	44	41639											
PCDH10	57575	broad.mit.edu	37	chr4	134072873	134072873	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgagaacggctacttgtaCgccctgcgctccttcgacta	7	11	9	14	4	1	1	0	1	1	1	3	3	2	1	2	1	4	3	2	1	4	5			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:134072873C>T	ENST00000264360.4	+	1	2404	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	526	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCTACTTGTACGCCCTGCGCT	0.592													18	52					0	0	0	0	T	134072873	C	T	134072873	2	4	228	1	0	0	0	0	0	0	0	1	11578	547	19	1		1	PCDH10	4	134072873	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08	64276417	134072873	57081403	45	41640											
PRKAA1	5562	broad.mit.edu	37	chr5	40777689	40777689	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcaattcatgtttgccaaCtgtaaaagaagtaatttaat	16	14	6	5	0	2	1	2	0	0	1	2	1	2	1	1	0	2	3	1	0	7	6			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr5:40777689C>G	ENST00000397128.2	-	2	136		c.e2-1		PRKAA1_ENST00000354209.3_Splice_Site|PRKAA1_ENST00000296800.4_Splice_Site	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit						activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGTTTGCCAACTGTAAAAGAA	0.378													36	14					0	0	0	0	G	40777689	C	G	40777689	5	3	228	1	0	0	0	0	0	0	1	0	12573	579	20	4	1633	4	PRKAA1	5	40777689	Splice_Site	SNP	C	TCGA-CV-5435-01A-01D-1683-08		40777689	140137571	46	41641											
SH3RF2	153769	broad.mit.edu	37	chr5	145379827	145379827	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccccgctctgcagggccctCtacaacttcgacctacgagg	7	7	9	18	3	2	0	0	0	2	0	3	2	2	0	4	2	4	2	4	2	3	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr5:145379827C>G	ENST00000511217.1	+	2	637	c.585C>G	c.(583-585)ctC>ctG	p.L195L	SH3RF2_ENST00000359120.4_Silent_p.L195L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	195	SH3 2.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGGCCCTCTACAACTTCG	0.602													14	11					0	0	0	0	G	145379827	C	G	145379827	2	3	228	1	0	0	0	0	0	0	0	1	14347	900	32	2		2	SH3RF2	5	145379827	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08	104602138	145379827	35535433	47	41642											
FAT2	2196	broad.mit.edu	37	chr5	150924395	150924395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccatttgtccccaagTcctcatcagtggcagatacc	9	9	7	16	0	2	1	2	0	0	1	4	1	4	1	6	1	2	1	6	1	2	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr5:150924395T>C	ENST00000261800.5	-	9	6305	c.6293A>G	c.(6292-6294)gAc>gGc	p.D2098G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2098	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCCCCAAGTCCTCATCAGT	0.448													49	18					0	0	0	0	C	150924395	T	C	150924395	3	2	228	1	0	0	0	0	1	0	0	0	5735	1667	58	5	6816	5	FAT2	5	150924395	Missense_Mutation	SNP	T	TCGA-CV-5435-01A-01D-1683-08	5544568	150924395	29990865	48	41643											
TDRD6	221400	broad.mit.edu	37	chr6	46661854	46661854	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgatgcctttgttctctGaggaagaaagcagtgatgga	11	12	12	6	0	1	4	0	3	1	1	2	6	1	6	1	2	2	2	1	2	2	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr6:46661854G>T	ENST00000544460.1	+	1	6243	c.5989G>T	c.(5989-5991)Gag>Tag	p.E1997*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1997*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1997					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTTGTTCTCTGAGGAAGAAAG	0.318													11	124					0.00244969	0.00259286	1	0	T	46661854	G	T	46661854	4	4	228	1	0	0	0	0	0	1	0	0	15828	1291	45	2	5991	2	TDRD6	6	46661854	Nonsense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08		46661854	124453213	49	41644											
C7orf25	79020	broad.mit.edu	37	chr7	42949873	42949873	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctcatcatctgattcactCtcacttggttgaagctcttc	7	15	5	14	0	6	2	4	2	3	0	8	2	6	2	1	1	1	2	1	1	1	4			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:42949873C>G	ENST00000350427.4	-	2	902	c.627G>C	c.(625-627)gaG>gaC	p.E209D	C7orf25_ENST00000447342.1_Missense_Mutation_p.E209D|C7orf25_ENST00000438029.1_Missense_Mutation_p.E209D|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Missense_Mutation_p.E267D			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	209										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTGATTCACTCTCACTTGGTT	0.458													27	25					0	0	0	0	G	42949873	C	G	42949873	3	3	228	1	0	0	0	0	1	0	0	0	2403	912	32	2	642	2	C7orf25	7	42949873	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08		42949873	116188790	50	41645											
POR	5447	broad.mit.edu	37	chr7	75614935	75614935	+	Frame_Shift_Del	DEL	G	G	-																															cacatctgtgcggtggttgtGgagtacgagaccaaggctgg																										TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:75614935delG	ENST00000394893.1	+	13	1457	c.1437delG	c.(1435-1437)gtfs	p.V479fs	POR_ENST00000419840.1_Frame_Shift_Del_p.V293fs|POR_ENST00000439269.1_Frame_Shift_Del_p.V217fs|POR_ENST00000461988.1_Frame_Shift_Del_p.V479fs|POR_ENST00000450476.1_Frame_Shift_Del_p.V378fs|POR_ENST00000545601.1_Frame_Shift_Del_p.V287fs			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	476	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CGGTGGTTGTGGAGTACGAGA	0.697													2	4	---	---	---	---					-	75614935	G	-	75614935	7	5	228	1	0	1	0	1	0	0	0	0	12329	1335	47	0	1483	0	POR	7	75614935	Frame_Shift_Del	DEL	G	TCGA-CV-5435-01A-01D-1683-08	32665062	75614935	83523728	51	41646											
SAMD9L	219285	broad.mit.edu	37	chr7	92762231	92762231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatcatagaataaattCtcttctaatatattcaatgc	16	14	3	8	0	4	2	2	0	2	2	5	2	4	2	1	0	1	0	1	0	9	8			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:92762231C>A	ENST00000318238.4	-	5	4270	c.3054G>T	c.(3052-3054)gaG>gaT	p.E1018D	SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1018D|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1018D	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1018										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAATAAATTCTCTTCTAATA	0.363													22	55					5.35356e-11	6.46393e-11	1	0	A	92762231	C	A	92762231	3	1	228	1	0	0	0	0	1	0	0	0	13912	912	32	2	1704	2	SAMD9L	7	92762231	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	17147296	92762231	66376432	52	41647											
CALCR	799	broad.mit.edu	37	chr7	93106945	93106945	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggtgtgtcatcccagcAcagccatccatcccaggtgc	8	7	10	16	1	1	0	1	0	0	0	4	0	4	0	5	2	4	1	5	2	0	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:93106945A>G	ENST00000359558.2	-	6	594	c.295T>C	c.(295-297)Tgc>Cgc	p.C99R	CALCR_ENST00000394441.1_Missense_Mutation_p.C81R|CALCR_ENST00000360249.4_Missense_Mutation_p.C81R|CALCR_ENST00000421592.1_Missense_Mutation_p.C81R|CALCR_ENST00000426151.1_Missense_Mutation_p.C81R	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	81					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TCATCCCAGCACAGCCATCCA	0.418													16	27					0	0	0	0	G	93106945	A	G	93106945	3	3	228	1	0	0	0	0	1	0	0	0	2604	159	6	5	1275	5	CALCR	7	93106945	Missense_Mutation	SNP	A	TCGA-CV-5435-01A-01D-1683-08	344714	93106945	66031718	53	41648											
SPDYE3	441272	broad.mit.edu	37	chr7	99917380	99917380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcgtcggttccagttCttctgttccatgcgctgcag	6	12	11	12	3	2	1	0	0	2	1	5	1	4	1	2	1	3	5	2	1	1	4			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:99917380C>A	ENST00000332397.6	+	9	1723	c.1539C>A	c.(1537-1539)ttC>ttA	p.F513L	SPDYE3_ENST00000437326.2_Missense_Mutation_p.F136L	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	513										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGTTCCAGTTCTTCTGTTCCA	0.607													32	66					4.74835e-14	5.90826e-14	1	0	A	99917380	C	A	99917380	3	1	228	1	0	0	0	0	1	0	0	0	15120	912	32	2	1573	2	SPDYE3	7	99917380	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	6810435	99917380	59221283	54	41649											
SRPK2	6733	broad.mit.edu	37	chr7	104808499	104808499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaggctgtctccgtataatGctgggcactttttacaactt	9	14	8	10	1	1	0	0	0	1	0	2	0	1	0	1	2	3	4	1	2	5	6			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:104808499G>A	ENST00000357311.3	-	4	520	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	SRPK2_ENST00000393651.3_Missense_Mutation_p.H128Y|SRPK2_ENST00000489828.1_Missense_Mutation_p.H117Y	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	117	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TCCGTATAATGCTGGGCACTT	0.279													14	27					0	0	0	0	A	104808499	G	A	104808499	3	1	228	1	0	0	0	0	1	0	0	0	15250	1319	46	4	1765	4	SRPK2	7	104808499	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	4891119	104808499	54330164	55	41650											
SSPO	23145	broad.mit.edu	37	chr7	149480698	149480698	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcctgtgcccggtgctgTctgcctatgcgcgtcgctgt	2	12	13	14	4	1	0	0	0	1	0	2	0	1	0	3	1	5	2	3	1	1	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:149480698T>C	ENST00000378016.2	+	0	2404							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGTGCTGTCTGCCTATGC	0.637													37	82					0	0	0	0	C	149480698	T	C	149480698	1	2	228	0	1	0	0	0	0	0	0	0	15279	1667	58	5		5	SSPO	7	149480698	RNA	SNP	T	TCGA-CV-5435-01A-01D-1683-08	44672199	149480698	9657965	56	41651											
PAXIP1	22976	broad.mit.edu	37	chr7	154767472	154767472	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttagtaatattcctcagtgtCcgtacagctggactccaggt	9	13	9	10	1	1	0	1	0	0	0	4	1	4	1	3	2	2	3	3	2	4	5			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:154767472C>T	ENST00000404141.1	-	6	1162	c.1008G>A	c.(1006-1008)cgG>cgA	p.R336R	PAXIP1_ENST00000397192.1_Silent_p.R336R|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	336					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TCCTCAGTGTCCGTACAGCTG	0.428													20	17					0	0	0	0	T	154767472	C	T	154767472	2	4	228	1	0	0	0	0	0	0	0	1	11558	842	30	2		2	PAXIP1	7	154767472	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08	5286774	154767472	4371191	57	41652											
CSMD1	64478	broad.mit.edu	37	chr8	2820154	2820154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatgccagggtctccgcaGaacacagctatggaagataa	13	6	13	9	1	1	2	0	0	1	2	2	4	1	4	2	3	3	2	2	3	4	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:2820154G>A	ENST00000520002.1	-	62	10020	c.9465C>T	c.(9463-9465)ttC>ttT	p.F3155F	CSMD1_ENST00000602723.1_Silent_p.F2978F|CSMD1_ENST00000602557.1_Silent_p.F3155F|CSMD1_ENST00000542608.1_Silent_p.F2977F|CSMD1_ENST00000537824.1_Silent_p.F3154F|CSMD1_ENST00000400186.3_Silent_p.F2978F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3155	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTCTCCGCAGAACACAGCTA	0.463													3	14					0	0	0	0	A	2820154	G	A	2820154	2	1	228	1	0	0	0	0	0	0	0	1	3976	933	33	2		2	CSMD1	8	2820154	Silent	SNP	G	TCGA-CV-5435-01A-01D-1683-08		2820154	143543868	58	41653											
XKR5	389610	broad.mit.edu	37	chr8	6679525	6679525	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgtcactctgctgggCgacaagccagaatgtcatca	11	9	11	10	1	4	2	3	1	1	1	4	4	4	2	1	1	2	1	1	1	2	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:6679525C>T	ENST00000518724.1	-	0	823							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CTCTGCTGGGCGACAAGCCAG	0.607													3	9					0	0	0	0	T	6679525	C	T	6679525	1	4	228	0	1	0	0	0	0	0	0	0	17530	768	27	1		1	XKR5	8	6679525	RNA	SNP	C	TCGA-CV-5435-01A-01D-1683-08	3859371	6679525	139684497	59	41654											
PDE7A	5150	broad.mit.edu	37	chr8	66691976	66691976	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggaaaatacgaaaatcaaTatatgggtgagaacctcttc	16	10	9	6	1	2	1	1	1	1	1	3	4	2	2	1	2	2	0	1	2	9	4			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:66691976T>C	ENST00000401827.3	-	3	705	c.262A>G	c.(262-264)Att>Gtt	p.I88V	PDE7A_ENST00000379419.4_Missense_Mutation_p.I62V|PDE7A_ENST00000396642.3_Missense_Mutation_p.I88V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	88						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CGAAAATCAATATATGGGTGA	0.348													20	139					0	0	0	0	C	66691976	T	C	66691976	3	2	228	1	0	0	0	0	1	0	0	0	11722	1406	49	5	1262	5	PDE7A	8	66691976	Missense_Mutation	SNP	T	TCGA-CV-5435-01A-01D-1683-08	60012451	66691976	79672046	60	41655											
VCPIP1	80124	broad.mit.edu	37	chr8	67576729	67576729	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcattaactctttaggaGgaaacccgtatcgaatacac	13	10	9	9	2	1	0	0	0	1	0	2	3	1	2	1	3	3	2	1	3	6	5			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:67576729G>C	ENST00000310421.4	-	1	2723	c.2465C>G	c.(2464-2466)cCt>cGt	p.P822R		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	822					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTCTTTAGGAGGAAACCCGTA	0.383													28	125					0	0	0	0	C	67576729	G	C	67576729	3	2	228	1	0	0	0	0	1	0	0	0	17237	1000	35	4	1215	4	VCPIP1	8	67576729	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	884753	67576729	78787293	61	41656											
PHF20L1	51105	broad.mit.edu	37	chr8	133858165	133858165	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagcaactctttgctctgtAtgacaacagtgaacacttaa	14	12	6	9	0	2	2	0	2	2	0	2	2	2	2	0	0	5	3	0	0	6	4			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:133858165A>G	ENST00000395386.2	+	21	3350	c.3051A>G	c.(3049-3051)gtA>gtG	p.V1017V	PHF20L1_ENST00000395390.2_Silent_p.V992V|PHF20L1_ENST00000220847.7_Silent_p.V404V	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	1017							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTTGCTCTGTATGACAACAGT	0.388													21	13					0	0	0	0	G	133858165	A	G	133858165	2	3	228	1	0	0	0	0	0	0	0	1	11904	436	16	5		5	PHF20L1	8	133858165	Silent	SNP	A	TCGA-CV-5435-01A-01D-1683-08	66281436	133858165	12505857	62	41657											
OPLAH	26873	broad.mit.edu	37	chr8	145108284	145108284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgcctggcgcccgcaggGcctccgtcaccgctggatgg	3	7	14	17	4	1	0	1	0	0	0	2	1	2	1	6	4	1	2	6	4	0	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:145108284G>T	ENST00000426825.1	-	20	2780	c.2699C>A	c.(2698-2700)gCc>gAc	p.A900D	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	900							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGCCCGCAGGGCCTCCGTCAC	0.647													8	93					0.00621372	0.00649254	1	0	T	145108284	G	T	145108284	3	4	228	1	0	0	0	0	1	0	0	0	10947	1203	42	4	1201	4	OPLAH	8	145108284	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	11250119	145108284	1255738	63	41658											
MPDZ	8777	broad.mit.edu	37	chr9	13147652	13147652	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctctgaggtccattccAtccacctgcaatggaaggcc	9	9	9	14	0	1	1	0	1	1	0	5	2	4	2	5	3	1	2	5	3	2	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr9:13147652A>T	ENST00000319217.7	-	26	3883	c.3636T>A	c.(3634-3636)gaT>gaA	p.D1212E	MPDZ_ENST00000541718.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1212E|MPDZ_ENST00000538841.1_Missense_Mutation_p.D104E|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1212E|MPDZ_ENST00000546205.1_Missense_Mutation_p.D1226E|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1212E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1212	PDZ 7.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGTCCATTCCATCCACCTGCA	0.428													24	19					0	0	0	0	T	13147652	A	T	13147652	3	4	228	1	0	0	0	0	1	0	0	0	9792	214	8	5	2573	5	MPDZ	9	13147652	Missense_Mutation	SNP	A	TCGA-CV-5435-01A-01D-1683-08		13147652	128065779	64	41659											
ANKS6	203286	broad.mit.edu	37	chr9	101552737	101552737	+	Missense_Mutation	SNP	C	C	A																															gcctgaagggtggtgatggtCcacaaaggcaccggcttcca																										TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr9:101552737C>A	ENST00000353234.4	-	2	558	c.511G>T	c.(511-513)Gac>Tac	p.D171Y	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Missense_Mutation_p.D171Y|ANKS6_ENST00000540940.1_5'UTR			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	171										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGGTGATGGTCCACAAAGGCA	0.652													7	11					0.00198382	0.00211348	1	0	A	101552737	C	A	101552737	3	1	228	1	0	0	0	0	1	0	0	0	691	855	30	2	2160	2	ANKS6	9	101552737	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	88405085	101552737	39660694	65	41660	316	2									
ANKS6	203286	broad.mit.edu	37	chr9	101552738	101552738	+	Silent	SNP	C	C	A																															cctgaagggtggtgatggtcCacaaaggcaccggcttccag																										TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr9:101552738C>A	ENST00000353234.4	-	2	557	c.510G>T	c.(508-510)gtG>gtT	p.V170V	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Silent_p.V170V|ANKS6_ENST00000540940.1_5'UTR			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	170										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGTGATGGTCCACAAAGGCAC	0.652													8	11					0.00307968	0.00323863	1	0	A	101552738	C	A	101552738	2	1	228	1	0	0	0	0	0	0	0	1	691	581	21	4		4	ANKS6	9	101552738	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08	1	101552738	39660693	66	41661	316	2									
PRPF4	9128	broad.mit.edu	37	chr9	116038996	116038996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgaagctggaaatattaatAtaacctctggtaagatgcaa	16	11	8	6	1	1	1	0	0	1	1	2	3	1	2	1	2	3	3	1	2	8	5			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr9:116038996A>G	ENST00000374199.4	+	2	597	c.196A>G	c.(196-198)Ata>Gta	p.I66V	PRPF4_ENST00000374198.4_Missense_Mutation_p.I67V			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	67						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						AAATATTAATATAACCTCTGG	0.388													87	101					0	0	0	0	G	116038996	A	G	116038996	3	3	228	1	0	0	0	0	1	0	0	0	12650	449	16	5	205	5	PRPF4	9	116038996	Missense_Mutation	SNP	A	TCGA-CV-5435-01A-01D-1683-08	14486258	116038996	25174435	67	41662											
ANKRD26	22852	broad.mit.edu	37	chr10	27352931	27352931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttaccttctgcttgttcaTttcctatatttttttctttt	4	26	2	9	0	4	0	1	0	3	0	5	0	5	0	2	0	2	2	2	0	3	12			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr10:27352931T>C	ENST00000376087.4	-	12	1514	c.1349A>G	c.(1348-1350)aAt>aGt	p.N450S	ANKRD26_ENST00000436985.2_Missense_Mutation_p.N499S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	450						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGCTTGTTCATTTCCTATATT	0.323													21	15					0	0	0	0	C	27352931	T	C	27352931	3	2	228	1	0	0	0	0	1	0	0	0	654	1493	52	5	3875	5	ANKRD26	10	27352931	Missense_Mutation	SNP	T	TCGA-CV-5435-01A-01D-1683-08		27352931	108181816	68	41663											
HNRNPF	3185	broad.mit.edu	37	chr10	43882508	43882508	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactcactgtcgccgtaTctgtggtcatacattccgga	8	12	10	11	3	3	1	2	1	1	0	5	2	4	2	2	2	2	1	2	2	3	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr10:43882508T>C	ENST00000443950.2	-	3	1311	c.825A>G	c.(823-825)agA>agG	p.R275R	HNRNPF_ENST00000544000.1_Silent_p.R275R|HNRNPF_ENST00000337970.3_Silent_p.R275R|HNRNPF_ENST00000356053.3_Silent_p.R275R|HNRNPF_ENST00000357065.4_Silent_p.R275R	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	275					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						TGTCGCCGTATCTGTGGTCAT	0.557													19	16					0	0	0	0	C	43882508	T	C	43882508	2	2	228	1	0	0	0	0	0	0	0	1	7315	1432	50	5		5	HNRNPF	10	43882508	Silent	SNP	T	TCGA-CV-5435-01A-01D-1683-08	16529577	43882508	91652239	69	41664											
WDR11	55717	broad.mit.edu	37	chr10	122612036	122612036	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taacattactgttttgctagGggctggcaaggtttaattgc	9	15	11	6	0	0	0	0	0	0	0	0	0	0	0	0	4	4	5	0	4	5	8			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr10:122612036G>A	ENST00000263461.6	+	2	333	c.86_splice	c.e2-1	p.W29_splice		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	29						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTTTTGCTAGGGGCTGGCAAG	0.363													13	14					0	0	0	0	A	122612036	G	A	122612036	5	1	228	1	0	0	0	0	0	0	1	0	17369	1246	43	4	93	4	WDR11	10	122612036	Splice_Site	SNP	G	TCGA-CV-5435-01A-01D-1683-08	78729528	122612036	12922711	70	41665											
MUC6	4588	broad.mit.edu	37	chr11	1016020	1016020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaggagaaggcaggggCggtgtgggtgctggccgtgg	6	6	23	6	2	0	2	0	1	0	2	0	4	0	2	1	8	1	2	1	8	1	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:1016020C>T	ENST00000421673.2	-	31	6831	c.6781G>A	c.(6781-6783)Gcc>Acc	p.A2261T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2261	Ser-rich.|Thr-rich.				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)		AAGGCAGGGGCGGTGTGGGTG	0.627													37	162					0	0	0	0	T	1016020	C	T	1016020	3	4	228	1	0	0	0	0	1	0	0	0	10050	768	27	1	550	1	MUC6	11	1016020	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08		1016020	133990496	71	41666											
MICAL2	9645	broad.mit.edu	37	chr11	12241956	12241956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggccctggtgcgggagcGgcaggcgcaccagctgctcg	4	4	18	15	6	0	0	0	0	0	0	1	1	0	1	2	5	4	4	2	5	0	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:12241956G>T	ENST00000256194.4	+	9	1445	c.1157G>T	c.(1156-1158)cGg>cTg	p.R386L	MICAL2_ENST00000537344.1_Missense_Mutation_p.R386L|MICAL2_ENST00000527546.1_Missense_Mutation_p.R386L|MICAL2_ENST00000379612.3_Missense_Mutation_p.R386L|MICAL2_ENST00000342902.5_Missense_Mutation_p.R386L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	386						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTGCGGGAGCGGCAGGCGCAC	0.592													3	64					0.115264	0.116696	1	0	T	12241956	G	T	12241956	3	4	228	1	0	0	0	0	1	0	0	0	9639	1116	39	3	1183	3	MICAL2	11	12241956	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	11225936	12241956	122764560	72	41667											
OR5B17	219965	broad.mit.edu	37	chr11	58125655	58125655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaccttcatgaatgcattCttcacgtctttgttcctcag	9	15	5	12	1	5	1	3	1	2	0	6	1	6	1	2	0	2	2	2	0	2	5			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:58125655C>A	ENST00000357377.3	-	1	887	c.888G>T	c.(886-888)aaG>aaT	p.K296N		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAATGCATTCTTCACGTCTT	0.368													19	105					1.33834e-09	1.54716e-09	1	0	A	58125655	C	A	58125655	3	1	228	1	0	0	0	0	1	0	0	0	11220	912	32	2	58	2	OR5B17	11	58125655	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	45883699	58125655	76880861	73	41668											
DTX4	23220	broad.mit.edu	37	chr11	58956754	58956755	+	Frame_Shift_Ins	INS	-	-	C																															aaaatccatcccaggggtttINSccaacacaagccgcaagacc																										TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:58956754_58956755insC	ENST00000227451.3	+	4	1221_1222	c.1117_1118insC	c.(1117-1119)caafs	p.Q373fs	DTX4_ENST00000532982.1_Frame_Shift_Ins_p.Q267fs|DTX4_ENST00000531902.1_3'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	373					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCCAGGGGTTTCCAACACAAGC	0.554													2	4	---	---	---	---					C	58956755	-	C	58956754	7	5	228	1	0	1	1	0	0	0	0	0	4833	1783	62	0	1131	0	DTX4	11	58956754	Frame_Shift_Ins	INS	-	TCGA-CV-5435-01A-01D-1683-08	831099	58956754	76049762	74	41669											
DDB1	1642	broad.mit.edu	37	chr11	61070101	61070101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaccgagccttgtgtggggGtggaagtctcacccagattc	7	9	14	11	1	1	1	1	0	1	1	3	3	1	2	3	3	1	1	3	3	1	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:61070101G>A	ENST00000301764.7	-	24	3462	c.3065C>T	c.(3064-3066)aCc>aTc	p.T1022I	DDB1_ENST00000538470.1_Missense_Mutation_p.T69I|DDB1_ENST00000450997.2_Missense_Mutation_p.T333I|DDB1_ENST00000451943.2_Missense_Mutation_p.T9I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1022	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TTGTGTGGGGGTGGAAGTCTC	0.582								Nucleotide excision repair (NER)					90	117					0	0	0	0	A	61070101	G	A	61070101	3	1	228	1	0	0	0	0	1	0	0	0	4355	1261	44	4	373	4	DDB1	11	61070101	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	2113347	61070101	73936415	75	41670											
INTS5	80789	broad.mit.edu	37	chr11	62414590	62414590	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggtggaggacactgtgcaGcacagccagatggggtccac	9	5	16	11	1	0	1	0	0	0	1	1	3	1	3	2	5	3	2	2	5	0	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:62414590G>A	ENST00000330574.2	-	2	3014	c.2962C>T	c.(2962-2964)Ctg>Ttg	p.L988L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	988					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ACACTGTGCAGCACAGCCAGA	0.602													4	148					0	0	0	0	A	62414590	G	A	62414590	2	1	228	1	0	0	0	0	0	0	0	1	7834	962	34	4		4	INTS5	11	62414590	Silent	SNP	G	TCGA-CV-5435-01A-01D-1683-08	1344489	62414590	72591926	76	41671											
PLCB3	5331	broad.mit.edu	37	chr11	64033990	64033990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgacggagattaaccgtcGgcacatcactgagtcagtca	12	8	10	11	3	3	3	3	2	0	1	4	4	3	3	1	2	1	1	1	2	1	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:64033990G>C	ENST00000540288.1	+	29	3483	c.3380G>C	c.(3379-3381)cGg>cCg	p.R1127P	PLCB3_ENST00000279230.6_Missense_Mutation_p.R1127P|PLCB3_ENST00000325234.5_Missense_Mutation_p.R1060P	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1127					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ATTAACCGTCGGCACATCACT	0.637													7	42					0	0	0	0	C	64033990	G	C	64033990	3	2	228	1	0	0	0	0	1	0	0	0	12101	1116	39	3	3494	3	PLCB3	11	64033990	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	1619400	64033990	70972526	77	41672											
PRB1	5542	broad.mit.edu	37	chr12	11508453	11508453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttctgagctgagctcaggGccagcaaggccactgacagc	10	6	13	12	0	2	3	1	3	1	0	2	3	2	3	2	2	4	4	2	2	1	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:11508453G>T	ENST00000500254.2	-	1	72	c.35C>A	c.(34-36)gCc>gAc	p.A12D	PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Missense_Mutation_p.A12D	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	12						extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGAGCTCAGGGCCAGCAAGGC	0.502													6	45					5.18039e-06	5.74424e-06	1	0	T	11508453	G	T	11508453	3	4	228	1	0	0	0	0	1	0	0	0	12522	1203	42	4	972	4	PRB1	12	11508453	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08		11508453	122343442	78	41673											
GRIN2B	2904	broad.mit.edu	37	chr12	13717063	13717063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagaatttgccgtacaggtCactgagctggctgtgcttgg	7	11	15	8	1	1	2	1	1	0	1	1	3	1	2	1	4	4	4	1	4	2	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:13717063C>T	ENST00000279593.3	-	13	3318	c.3109G>A	c.(3109-3111)Gac>Aac	p.D1037N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1037					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCGTACAGGTCACTGAGCTGG	0.582													25	16					0	0	0	0	T	13717063	C	T	13717063	3	4	228	1	0	0	0	0	1	0	0	0	6830	826	29	2	1349	2	GRIN2B	12	13717063	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	2208610	13717063	120134832	79	41674											
PDE3A	5139	broad.mit.edu	37	chr12	20523043	20523043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcatttggggtcccagctGattgctgggaccaaggaaga	10	8	15	8	0	0	2	0	1	0	1	1	5	1	4	2	4	3	3	2	4	2	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGTCCCAGCTGATTGCTGGGA	0.627													16	60					0	0	0	0	A	20523043	G	A	20523043	2	1	228	1	0	0	0	0	0	0	0	1	11708	1277	45	2		2	PDE3A	12	20523043	Silent	SNP	G	TCGA-CV-5435-01A-01D-1683-08	6805980	20523043	113328852	80	41675											
GXYLT1	283464	broad.mit.edu	37	chr12	42512903	42512903	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcaacatggtcatagtttCttccagtctttcaccacagg	9	14	6	12	0	5	0	3	0	2	0	6	0	6	0	2	2	1	1	2	2	2	5			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:42512903C>G	ENST00000398675.3	-	3	617	c.385G>C	c.(385-387)Gaa>Caa	p.E129Q	GXYLT1_ENST00000280876.6_Missense_Mutation_p.E98Q	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	129					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GTCATAGTTTCTTCCAGTCTT	0.378													17	81					0	0	0	0	G	42512903	C	G	42512903	3	3	228	1	0	0	0	0	1	0	0	0	6953	922	32	2	961	2	GXYLT1	12	42512903	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	21989860	42512903	91338992	81	41676											
PRICKLE1	144165	broad.mit.edu	37	chr12	42864075	42864075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtggtggtaactggtaCaaaagctgtttaatccgatg	11	13	11	6	1	1	0	1	0	0	0	2	1	2	0	1	3	3	4	1	3	5	4			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:42864075C>A	ENST00000455697.1	-	3	504	c.219G>T	c.(217-219)ttG>ttT	p.L73F	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.L73F|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.L73F|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.L73F|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.L73F	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	73	PET.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GTAACTGGTACAAAAGCTGTT	0.398													9	47					0.000274275	0.000296072	1	0	A	42864075	C	A	42864075	3	1	228	1	0	0	0	0	1	0	0	0	12566	477	17	4	2300	4	PRICKLE1	12	42864075	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	351172	42864075	90987820	82	41677											
PTPRB	5787	broad.mit.edu	37	chr12	71029580	71029580	+	Frame_Shift_Del	DEL	A	A	-																															ttgtttctggagaaagagagAggcattttccacctcaagga																										TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:71029580delA	ENST00000334414.6	-	2	366	c.322delT	c.(322-324)ctfs	p.S108fs	PTPRB_ENST00000551525.1_Frame_Shift_Del_p.S107fs|PTPRB_ENST00000550358.1_Frame_Shift_Del_p.S108fs|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAAAGAGAGAGGCATTTTCC	0.532													18	16	---	---	---	---					-	71029580	A	-	71029580	7	5	228	1	0	1	0	1	0	0	0	0	12878	304	11	0	6515	0	PTPRB	12	71029580	Frame_Shift_Del	DEL	A	TCGA-CV-5435-01A-01D-1683-08	28165505	71029580	62822315	83	41678											
TPH2	121278	broad.mit.edu	37	chr12	72416243	72416243	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaactgcgggcatatggagCaggactcctttcctccattg	8	10	11	12	1	0	0	0	0	0	0	3	2	3	2	3	3	3	3	3	3	2	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:72416243C>A	ENST00000333850.3	+	9	1274	c.1133C>A	c.(1132-1134)gCa>gAa	p.A378E		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	378					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCATATGGAGCAGGACTCCTT	0.428													16	55					1.33834e-09	1.54716e-09	1	0	A	72416243	C	A	72416243	3	1	228	1	0	0	0	0	1	0	0	0	16497	710	25	4	1167	4	TPH2	12	72416243	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	1386663	72416243	61435652	84	41679											
SLC25A3	5250	broad.mit.edu	37	chr12	98987764	98987764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcccctagaaagatgttctCgtccgtggcgcacctggcgc	6	9	11	15	4	1	2	0	0	1	2	4	2	3	2	4	2	0	2	4	2	2	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:98987764C>G	ENST00000188376.5	+	1	362	c.8C>G	c.(7-9)tCg>tGg	p.S3W	SLC25A3_ENST00000401722.3_Missense_Mutation_p.S3W|SLC25A3_ENST00000228318.3_Missense_Mutation_p.S3W|SLC25A3_ENST00000549338.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000552981.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000551917.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000551265.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000548847.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000547534.1_Missense_Mutation_p.S3W	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	3					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		AAGATGTTCTCGTCCGTGGCG	0.662													11	29					0	0	0	0	G	98987764	C	G	98987764	3	3	228	1	0	0	0	0	1	0	0	0	14581	893	31	3	10	3	SLC25A3	12	98987764	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	26571521	98987764	34864131	85	41680											
CIT	11113	broad.mit.edu	37	chr12	120139472	120139472	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcgctgccctgcgctgttCacctgcacgattgagacagg	6	10	11	14	3	2	1	1	1	1	1	3	3	2	1	2	1	3	4	2	1	0	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:120139472C>T	ENST00000392521.2	-	43	5554	c.5499G>A	c.(5497-5499)gtG>gtA	p.V1833V	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.V1791V	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1791	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGCGCTGTTCACCTGCACGA	0.562													7	30					0	0	0	0	T	120139472	C	T	120139472	2	4	228	1	0	0	0	0	0	0	0	1	3468	813	29	2		2	CIT	12	120139472	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08	21151708	120139472	13712423	86	41681											
CLIP1	6249	broad.mit.edu	37	chr12	122862371	122862371	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgggtttctccaagaaactgGataaatccaggcttatttcc	11	13	8	9	0	1	1	0	0	1	1	4	2	3	2	3	3	1	2	3	3	5	4			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:122862371G>C	ENST00000358808.2	-	3	376	c.222C>G	c.(220-222)atC>atG	p.I74M	CLIP1_ENST00000540338.1_Missense_Mutation_p.I74M|CLIP1_ENST00000537178.1_Missense_Mutation_p.I74M|CLIP1_ENST00000361654.4_Missense_Mutation_p.I74M|CLIP1_ENST00000302528.7_Missense_Mutation_p.I74M	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	74					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CAAGAAACTGGATAAATCCAG	0.483													124	53					0	0	0	0	C	122862371	G	C	122862371	3	2	228	1	0	0	0	0	1	0	0	0	3562	1164	41	2	4153	2	CLIP1	12	122862371	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	2722899	122862371	10989524	87	41682											
FAM101A	144347	broad.mit.edu	37	chr12	124799005	124799005	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccagccgctggttcacCgccagcgtgcagctgcagct	5	6	13	17	4	1	0	1	0	0	0	1	0	1	0	4	2	6	6	4	2	0	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:124799005C>T	ENST00000324038.3	+	3	585	c.342C>T	c.(340-342)acC>acT	p.T114T	FAM101A_ENST00000389727.3_Silent_p.T195T|FAM101A_ENST00000546355.1_Silent_p.T114T|FAM101A_ENST00000338359.4_Silent_p.T114T	NM_181709.4	NP_859060.3	Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	195										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GCTGGTTCACCGCCAGCGTGC	0.711													4	12					0	0	0	0	T	124799005	C	T	124799005	2	4	228	1	0	0	0	0	0	0	0	1	5421	639	23	1		1	FAM101A	12	124799005	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08	1936634	124799005	9052890	88	41683											
RHOJ	57381	broad.mit.edu	37	chr14	63671683	63671683	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgggggacggtgccgtGgggaaaacctgcctgctgat	6	8	19	8	2	0	1	0	1	0	0	0	3	0	3	3	6	4	1	3	6	2	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:63671683G>C	ENST00000316754.3	+	1	558	c.96G>C	c.(94-96)gtG>gtC	p.V32V	RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Silent_p.V32V	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	32					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		ACGGTGCCGTGGGGAAAACCT	0.547													17	21					0	0	0	0	C	63671683	G	C	63671683	2	2	228	1	0	0	0	0	0	0	0	1	13424	1335	47	4		4	RHOJ	14	63671683	Silent	SNP	G	TCGA-CV-5435-01A-01D-1683-08		63671683	43677857	89	41684											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208842	65208842	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcctccccggaaagctcCtctcccactgaggggcgcag	7	6	11	17	2	1	1	0	1	1	0	4	2	3	2	5	3	2	2	5	3	1	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:65208842C>T	ENST00000247226.7	+	14	2747	c.2439C>T	c.(2437-2439)tcC>tcT	p.S813S	PLEKHG3_ENST00000484731.2_Silent_p.S374S|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Silent_p.S402S|PLEKHG3_ENST00000394691.1_Silent_p.S869S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	869					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGGAAAGCTCCTCTCCCACTG	0.652													22	18					0	0	0	0	T	65208842	C	T	65208842	2	4	228	1	0	0	0	0	0	0	0	1	12142	668	24	4		4	PLEKHG3	14	65208842	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08	1537159	65208842	42140698	90	41685											
ZFP36L1	677	broad.mit.edu	37	chr14	69256533	69256533	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagggttattggtgccaTcgggcagggtaggtgagccc	9	8	16	8	1	0	1	0	1	0	0	1	1	0	1	2	5	2	3	2	5	4	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:69256533T>A	ENST00000439696.2	-	2	1035	c.734A>T	c.(733-735)gAt>gTt	p.D245V	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.D245V	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	245					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTGGTGCCATCGGGCAGGGT	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	80	111					0	0	0	0	A	69256533	T	A	69256533	3	1	228	1	0	0	0	0	1	0	0	0	17741	1435	50	5	286	5	ZFP36L1	14	69256533	Missense_Mutation	SNP	T	TCGA-CV-5435-01A-01D-1683-08	4047691	69256533	38093007	91	41686											
ENTPD5	957	broad.mit.edu	37	chr14	74440651	74440651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccaaccatctcggtaaaCaggcactccggaaagtgtgc	11	8	9	13	2	1	0	0	0	1	0	4	1	3	1	3	3	3	2	3	3	4	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:74440651C>T	ENST00000334696.6	-	12	1134	c.815G>A	c.(814-816)tGt>tAt	p.C272Y	ENTPD5_ENST00000557325.1_Missense_Mutation_p.C272Y	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	272					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TCTCGGTAAACAGGCACTCCG	0.488													15	52					0	0	0	0	T	74440651	C	T	74440651	3	4	228	1	0	0	0	0	1	0	0	0	5180	478	17	4	491	4	ENTPD5	14	74440651	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	5184118	74440651	32908889	92	41687											
TTLL5	23093	broad.mit.edu	37	chr14	76286467	76286467	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctacacagtcagaccccCaagctcccgagaatcactcc	11	6	7	17	1	3	2	2	0	1	2	5	3	5	2	4	1	2	1	4	1	3	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:76286467C>G	ENST00000298832.9	+	28	3494	c.3289C>G	c.(3289-3291)Caa>Gaa	p.Q1097E	TTLL5_ENST00000556893.1_Missense_Mutation_p.Q648E|RP11-270M14.4_ENST00000556207.1_RNA|TTLL5_ENST00000554510.1_Missense_Mutation_p.Q606E|TTLL5_ENST00000557636.1_Missense_Mutation_p.Q1112E	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1097					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTCAGACCCCCAAGCTCCCGA	0.562													14	36					0	0	0	0	G	76286467	C	G	76286467	3	3	228	1	0	0	0	0	1	0	0	0	16826	595	21	4	3395	4	TTLL5	14	76286467	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	1845816	76286467	31063073	93	41688											
OCA2	4948	broad.mit.edu	37	chr15	28326955	28326955	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtccgctgggcacggaCgtctgcaggagctccaccgc	6	5	15	15	5	1	0	0	0	1	0	3	3	3	2	3	3	2	4	3	3	0	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:28326955C>T	ENST00000354638.3	-	2	221	c.66G>A	c.(64-66)acG>acA	p.T22T	OCA2_ENST00000382996.2_Silent_p.T22T|OCA2_ENST00000353809.5_Silent_p.T22T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	22					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGGGCACGGACGTCTGCAGGA	0.701									Oculocutaneous Albinism				17	9					0	0	0	0	T	28326955	C	T	28326955	2	4	228	1	0	0	0	0	0	0	0	1	10886	523	19	1		1	OCA2	15	28326955	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08		28326955	74204437	94	41689											
THBS1	7057	broad.mit.edu	37	chr15	39884807	39884807	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcattggagatacctgtgaCaacaatcaggatattgatga	14	10	10	7	1	1	4	1	3	0	1	1	6	1	5	1	2	2	1	1	2	4	4			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:39884807C>G	ENST00000260356.5	+	17	2736	c.2571C>G	c.(2569-2571)gaC>gaG	p.D857E		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	857					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ATACCTGTGACAACAATCAGG	0.443													4	5					0	0	0	0	G	39884807	C	G	39884807	3	3	228	1	0	0	0	0	1	0	0	0	15947	477	17	4	2633	4	THBS1	15	39884807	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	11557852	39884807	62646585	95	41690											
CILP	8483	broad.mit.edu	37	chr15	65491100	65491100	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgttccccatgtacacatgGccaaagcgcatgggctcccc	8	8	9	16	1	0	0	0	0	0	0	2	0	2	0	5	2	2	4	5	2	2	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:65491100G>A	ENST00000261883.4	-	9	1690	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	508					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTACACATGGCCAAAGCGCA	0.597													4	37					0	0	0	0	A	65491100	G	A	65491100	2	1	228	1	0	0	0	0	0	0	0	1	3458	1190	42	4		4	CILP	15	65491100	Silent	SNP	G	TCGA-CV-5435-01A-01D-1683-08	25606293	65491100	37040292	96	41691											
ADAMTS7	11173	broad.mit.edu	37	chr15	79092702	79092702	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagcaggtgctgattggcGgtcaggttgaagcgcagctc	7	8	16	10	2	1	2	1	2	0	0	2	2	1	2	1	4	4	5	1	4	1	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:79092702G>A	ENST00000388820.4	-	2	498	c.288C>T	c.(286-288)acC>acT	p.T96T	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	96					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCTGATTGGCGGTCAGGTTGA	0.731													4	6					0	0	0	0	A	79092702	G	A	79092702	2	1	228	1	0	0	0	0	0	0	0	1	271	1103	39	1		1	ADAMTS7	15	79092702	Silent	SNP	G	TCGA-CV-5435-01A-01D-1683-08	13601602	79092702	23438690	97	41692											
RASGRF1	5923	broad.mit.edu	37	chr15	79294032	79294032	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtttttgactgatttGggtgttgttggagatttagt	5	23	12	1	0	0	3	0	2	0	1	0	4	0	3	0	2	0	3	0	2	1	9			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:79294032G>T	ENST00000419573.3	-	17	2869	c.2595C>A	c.(2593-2595)ccC>ccA	p.P865P	RASGRF1_ENST00000558480.2_Silent_p.P849P|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Silent_p.P81P	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	867					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGACTGATTTGGGTGTTGTTG	0.408													24	93					2.48779e-11	3.0262e-11	1	0	T	79294032	G	T	79294032	2	4	228	1	0	0	0	0	0	0	0	1	13154	1335	47	4		4	RASGRF1	15	79294032	Silent	SNP	G	TCGA-CV-5435-01A-01D-1683-08	201330	79294032	23237360	98	41693											
ZNF500	26048	broad.mit.edu	37	chr16	4815844	4815844	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagctggcggaaagtctcagGgctggggtcctccgtctcca	6	8	15	12	2	2	0	1	0	2	0	6	2	4	1	3	5	1	2	3	5	1	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr16:4815844G>C	ENST00000219478.6	-	2	435	c.136C>G	c.(136-138)Cct>Gct	p.P46A	ZNF500_ENST00000545009.1_Missense_Mutation_p.P46A			O60304	ZN500_HUMAN	zinc finger protein 500	46					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAAGTCTCAGGGCTGGGGTCC	0.642													14	46					0	0	0	0	C	4815844	G	C	4815844	3	2	228	1	0	0	0	0	1	0	0	0	18043	1232	43	4	1326	4	ZNF500	16	4815844	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08		4815844	85538909	99	41694											
GPRC5B	51704	broad.mit.edu	37	chr16	19871833	19871833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagtctttcaccaaaggtGtcttcctgtgtgacttggcg	8	14	10	9	1	3	1	1	1	2	0	4	1	4	1	2	2	0	0	2	2	3	4			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr16:19871833G>A	ENST00000300571.2	-	4	1392	c.1201C>T	c.(1201-1203)Cac>Tac	p.H401Y	GPRC5B_ENST00000569847.1_Missense_Mutation_p.H401Y|GPRC5B_ENST00000569479.1_Missense_Mutation_p.H401Y|GPRC5B_ENST00000537135.1_Missense_Mutation_p.H427Y|GPRC5B_ENST00000535671.1_Intron	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	401										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACCAAAGGTGTCTTCCTGTG	0.443													15	33					0	0	0	0	A	19871833	G	A	19871833	3	1	228	1	0	0	0	0	1	0	0	0	6775	1377	48	4	14	4	GPRC5B	16	19871833	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	15055989	19871833	70482920	100	41695											
VPS35	55737	broad.mit.edu	37	chr16	46716023	46716023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactctttggtgataacataGaagtccggagttcaccaagc	13	10	9	9	1	2	2	1	1	1	1	3	3	3	3	2	2	3	1	2	2	5	4			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr16:46716023G>A	ENST00000299138.7	-	3	225	c.167C>T	c.(166-168)tCt>tTt	p.S56F		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	56					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGATAACATAGAAGTCCGGAG	0.338													18	35					0	0	0	0	A	46716023	G	A	46716023	3	1	228	1	0	0	0	0	1	0	0	0	17299	942	33	2	2283	2	VPS35	16	46716023	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	26844190	46716023	43638730	101	41696											
TP53	7157	broad.mit.edu	37	chr17	7579415	7579415	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagaagatgacaggggcCaggagggggctggtgcaggg	10	3	22	6	0	0	3	0	1	0	2	0	5	0	5	1	8	1	2	1	8	1	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:7579415C>T	ENST00000420246.2	-	4	404	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	91	Interaction with WWOX.		W -> C (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACAGGGGCCAGGAGGGGGC	0.632		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			81	17					0	0	0	0	T	7579415	C	T	7579415	4	4	228	1	0	0	0	0	0	1	0	0	16476	595	21	4	1030	4	TP53	17	7579415	Nonsense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08		7579415	73615795	102	41697											
DNAH9	1770	broad.mit.edu	37	chr17	11660996	11660996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttccaacctgcctagacAcactcagaaccaggtaggcc	12	7	7	15	0	2	2	1	0	1	2	3	2	3	2	5	2	3	1	5	2	4	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:11660996A>G	ENST00000262442.3	+	35	7050	c.6982A>G	c.(6982-6984)Aca>Gca	p.T2328A	DNAH9_ENST00000454412.2_Missense_Mutation_p.T2328A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2328	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCCTAGACACACTCAGAAC	0.468													20	15					0	0	0	0	G	11660996	A	G	11660996	3	3	228	1	0	0	0	0	1	0	0	0	4644	159	6	5	7120	5	DNAH9	17	11660996	Missense_Mutation	SNP	A	TCGA-CV-5435-01A-01D-1683-08	4081581	11660996	69534214	103	41698											
PROCA1	147011	broad.mit.edu	37	chr17	27031231	27031231	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtctgtagcttttgcacCtgggagaagggacaacgggg	9	8	16	8	1	1	1	0	0	1	1	1	3	1	2	1	5	3	3	1	5	3	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:27031231C>T	ENST00000301039.2	-	4	550		c.e4-1		PROCA1_ENST00000581289.1_Splice_Site|PROCA1_ENST00000439862.3_Splice_Site|PROCA1_ENST00000579650.1_Splice_Site	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1						lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GCTTTTGCACCTGGGAGAAGG	0.572													20	79					0	0	0	0	T	27031231	C	T	27031231	5	4	228	1	0	0	0	0	0	0	1	0	12626	695	24	4	658	4	PROCA1	17	27031231	Splice_Site	SNP	C	TCGA-CV-5435-01A-01D-1683-08	15370235	27031231	54163979	104	41699											
ATAD5	79915	broad.mit.edu	37	chr17	29162894	29162894	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcaactagaagatctggaAgaattagcagcacacctact	16	8	8	9	0	2	3	1	0	1	3	2	4	2	4	1	1	4	2	1	1	7	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:29162894A>C	ENST00000321990.4	+	2	2173	c.1795A>C	c.(1795-1797)Aga>Cga	p.R599R	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	599					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGATCTGGAAGAATTAGCAG	0.398													24	87					0	0	0	0	C	29162894	A	C	29162894	2	2	228	1	0	0	0	0	0	0	0	1	1080	64	3	5		5	ATAD5	17	29162894	Silent	SNP	A	TCGA-CV-5435-01A-01D-1683-08	2131663	29162894	52032316	105	41700											
STAC2	342667	broad.mit.edu	37	chr17	37369370	37369370	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgggaagaagccaacccGgtcgccgatcttgccctggg	8	6	14	13	3	1	1	0	0	1	1	2	3	1	2	4	3	4	1	4	3	3	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:37369370G>T	ENST00000333461.5	-	10	1378	c.1009C>A	c.(1009-1011)Cgg>Agg	p.R337R		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	337	SH3.				intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						AAGCCAACCCGGTCGCCGATC	0.607													28	32					1.77063e-15	2.25479e-15	1	0	T	37369370	G	T	37369370	2	4	228	1	0	0	0	0	0	0	0	1	15330	1115	39	3		3	STAC2	17	37369370	Silent	SNP	G	TCGA-CV-5435-01A-01D-1683-08	8206476	37369370	43825840	106	41701											
WNT3	7473	broad.mit.edu	37	chr17	44845973	44845973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgaagagcgagtacttggCccggagggtctccacccagc	8	7	13	13	2	1	2	0	1	1	1	2	4	1	3	3	3	3	1	3	3	2	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:44845973C>G	ENST00000225512.5	-	4	943	c.781G>C	c.(781-783)Gcc>Ccc	p.A261P		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	261					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAGTACTTGGCCCGGAGGGTC	0.592													51	60					0	0	0	0	G	44845973	C	G	44845973	3	3	228	1	0	0	0	0	1	0	0	0	17484	739	26	4	290	4	WNT3	17	44845973	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	7476603	44845973	36349237	107	41702											
COL1A1	1277	broad.mit.edu	37	chr17	48273527	48273527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactcacagggggcccggCagcaccagtagcaccatcat	11	4	10	16	1	2	0	2	0	0	0	2	0	2	0	3	3	2	4	3	3	1	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:48273527C>T	ENST00000225964.5	-	15	1109	c.991G>A	c.(991-993)Gcc>Acc	p.A331T		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	331	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGGGCCCGGCAGCACCAGTA	0.612			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						11	19					0	0	0	0	T	48273527	C	T	48273527	3	4	228	1	0	0	0	0	1	0	0	0	3707	710	25	4	3551	4	COL1A1	17	48273527	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	3427554	48273527	32921683	108	41703											
MED13	9969	broad.mit.edu	37	chr17	60087936	60087936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgatgttacactttcctGtccaaaaggtccaactggat	12	12	7	10	0	0	1	0	1	0	0	3	2	3	2	3	2	3	1	3	2	5	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:60087936G>T	ENST00000397786.2	-	9	2018	c.1942C>A	c.(1942-1944)Cag>Aag	p.Q648K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	648					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACACTTTCCTGTCCAAAAGGT	0.348													8	38					1.12685e-05	1.23273e-05	1	0	T	60087936	G	T	60087936	3	4	228	1	0	0	0	0	1	0	0	0	9499	1386	48	4	4670	4	MED13	17	60087936	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	11814409	60087936	21107274	109	41704											
GH2	2689	broad.mit.edu	37	chr17	61958159	61958159	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcgtttggatgccttcctcTaggtccttcaggtggcgata	6	13	12	10	2	2	0	1	0	1	0	4	2	4	1	3	4	2	1	3	4	2	5			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:61958159T>C	ENST00000332800.7	-	4	562	c.429A>G	c.(427-429)ctA>ctG	p.L143L	GH2_ENST00000449787.2_Silent_p.L128L|GH2_ENST00000456543.2_Silent_p.L143L|GH2_ENST00000423893.2_Silent_p.L143L	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	143						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGCCTTCCTCTAGGTCCTTCA	0.617													39	71					0	0	0	0	C	61958159	T	C	61958159	2	2	228	1	0	0	0	0	0	0	0	1	6419	1509	53	5		5	GH2	17	61958159	Silent	SNP	T	TCGA-CV-5435-01A-01D-1683-08	1870223	61958159	19237051	110	41705											
FBF1	85302	broad.mit.edu	37	chr17	73915827	73915827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgccgctggtgctgggccGtaagctcagcacgggcctgt	5	7	16	13	4	1	0	1	0	0	0	1	0	1	0	3	3	4	5	3	3	1	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:73915827G>A	ENST00000586717.1	-	19	2291	c.2018C>T	c.(2017-2019)aCg>aTg	p.T673M	FBF1_ENST00000389570.4_Missense_Mutation_p.T673M|FBF1_ENST00000319129.5_Missense_Mutation_p.T672M			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	672										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GTGCTGGGCCGTAAGCTCAGC	0.667													3	37					0	0	0	0	A	73915827	G	A	73915827	3	1	228	1	0	0	0	0	1	0	0	0	5740	1145	40	1	1430	1	FBF1	17	73915827	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	11957668	73915827	7279383	111	41706											
TNRC6C	57690	broad.mit.edu	37	chr17	76089205	76089205	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagcatcaactggcccccaGgtaagaccatgcaacacttc	12	7	7	15	0	1	1	1	0	0	1	2	1	1	1	3	2	4	3	3	2	4	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:76089205G>C	ENST00000335749.4	+	15	4722	c.4153_splice	c.e15+1	p.E1385_splice	TNRC6C_ENST00000301624.4_Splice_Site_p.E1388_splice|TNRC6C_ENST00000544502.1_Splice_Site_p.E1385_splice|TNRC6C_ENST00000588847.1_Splice_Site_p.E1385_splice|TNRC6C_ENST00000541771.1_Splice_Site_p.E1388_splice|TNRC6C_ENST00000588061.1_Splice_Site_p.E1388_splice	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1388	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTGGCCCCCAGGTAAGACCAT	0.522													10	13					0	0	0	0	C	76089205	G	C	76089205	5	2	228	1	0	0	0	0	0	0	1	0	16436	1014	35	4	4212	4	TNRC6C	17	76089205	Splice_Site	SNP	G	TCGA-CV-5435-01A-01D-1683-08	2173378	76089205	5106005	112	41707											
RNF213	57674	broad.mit.edu	37	chr17	78351573	78351573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacagcttgtcccaacGgccatccttgctccgtggga	6	11	9	15	2	2	0	1	0	1	0	5	1	5	1	4	2	3	2	4	2	1	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:78351573G>A	ENST00000582970.1	+	54	13665	c.13522G>A	c.(13522-13524)Ggc>Agc	p.G4508S	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G4557S|RNF213_ENST00000336301.6_Missense_Mutation_p.G2581S|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTGTCCCAACGGCCATCCTTG	0.532													68	106					0	0	0	0	A	78351573	G	A	78351573	3	1	228	1	0	0	0	0	1	0	0	0	13562	1116	39	1	14051	1	RNF213	17	78351573	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	2262368	78351573	2843637	113	41708											
VAPA	9218	broad.mit.edu	37	chr18	9944946	9944946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccaccagggaatgctcCgactgtcacttcaatgagca	12	8	8	13	1	2	1	2	1	0	0	4	3	4	2	3	1	3	2	3	1	3	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr18:9944946C>T	ENST00000340541.4	+	5	638	c.443C>T	c.(442-444)cCg>cTg	p.P148L	VAPA_ENST00000400000.2_Intron|VAPA_ENST00000584796.1_Intron			Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	139					cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						GGGAATGCTCCGACTGTCACT	0.473													15	27					0	0	0	0	T	9944946	C	T	9944946	3	4	228	1	0	0	0	0	1	0	0	0	17217	652	23	1	461	1	VAPA	18	9944946	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08		9944946	68132302	114	41709											
CDH7	1005	broad.mit.edu	37	chr18	63547907	63547907	+	Frame_Shift_Del	DEL	G	G	-																															catctttagggaatttatttGggaaagattaaaagaagccg																										TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr18:63547907delG	ENST00000397968.2	+	12	2561	c.2135delG	c.(2134-2136)tgfs	p.W712fs	CDH7_ENST00000323011.3_Frame_Shift_Del_p.W712fs	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	712					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAATTTATTTGGGAAAGATTA	0.438													54	61	---	---	---	---					-	63547907	G	-	63547907	7	5	228	1	0	1	0	1	0	0	0	0	3144	1357	47	0	2177	0	CDH7	18	63547907	Frame_Shift_Del	DEL	G	TCGA-CV-5435-01A-01D-1683-08	53602961	63547907	14529341	115	41710											
CILP2	148113	broad.mit.edu	37	chr19	19655287	19655287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctacggcatgttctccGtggacctccgtgcgcccggc	4	8	12	17	5	1	0	0	0	1	0	3	1	2	1	5	3	2	3	5	3	1	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:19655287G>A	ENST00000586018.1	+	8	2053	c.1951G>A	c.(1951-1953)Gtg>Atg	p.V651M	CILP2_ENST00000291495.4_Missense_Mutation_p.V645M			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	645						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CATGTTCTCCGTGGACCTCCG	0.731													25	43					0	0	0	0	A	19655287	G	A	19655287	3	1	228	1	0	0	0	0	1	0	0	0	3459	1145	40	1	1963	1	CILP2	19	19655287	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08		19655287	39473696	116	41711											
ZNF431	170959	broad.mit.edu	37	chr19	21365730	21365730	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacctttcaaatgtaaaaaAtgtggcaaatcattttgcat	17	13	5	6	0	2	0	2	0	0	0	2	0	2	0	1	1	2	3	1	1	6	4			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:21365730A>G	ENST00000311048.7	+	5	768	c.624A>G	c.(622-624)aaA>aaG	p.K208K	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AATGTAAAAAATGTGGCAAAT	0.284													12	32					0	0	0	0	G	21365730	A	G	21365730	2	3	228	1	0	0	0	0	0	0	0	1	18000	98	4	5		5	ZNF431	19	21365730	Silent	SNP	A	TCGA-CV-5435-01A-01D-1683-08	1710443	21365730	37763253	117	41712											
ZNF536	9745	broad.mit.edu	37	chr19	31039034	31039034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgttcatcaggccagaCatcctgaggggggccttcaa	8	10	11	12	0	4	2	3	1	1	1	6	2	5	2	3	4	0	1	3	4	1	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:31039034C>A	ENST00000355537.3	+	4	2655	c.2508C>A	c.(2506-2508)gaC>gaA	p.D836E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	836					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAGGCCAGACATCCTGAGGG	0.582													27	57					3.65163e-15	4.57858e-15	1	0	A	31039034	C	A	31039034	3	1	228	1	0	0	0	0	1	0	0	0	18069	477	17	4	2518	4	ZNF536	19	31039034	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	9673304	31039034	28089949	118	41713											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52148741	52148741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctttcctacctgtgcctgtgCcatttctgaagaagatgctg	7	14	9	11	0	1	3	0	1	1	2	2	3	2	3	4	0	4	1	4	0	3	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:52148741C>A	ENST00000360844.6	-	4	784	c.743G>T	c.(742-744)gGc>gTc	p.G248V	SIGLEC5_ENST00000534261.2_5'UTR|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	248	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGTGCCTGTGCCATTTCTGAA	0.552													14	44					1.5842e-08	1.79323e-08	1	0	A	52148741	C	A	52148741	3	1	228	1	0	0	0	0	1	0	0	0	14397	739	26	4	463	4	SIGLEC14	19	52148741	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	21109707	52148741	6980242	119	41714											
ZNF534	147658	broad.mit.edu	37	chr19	52941671	52941671	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgctcatcttgtaatcCatactggagagaaaccttat	12	14	6	9	0	2	1	1	0	1	1	3	3	3	2	2	1	4	2	2	1	5	5			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:52941671C>A	ENST00000332323.6	+	4	1058	c.997C>A	c.(997-999)Cat>Aat	p.H333N	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.H320N	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TCTTGTAATCCATACTGGAGA	0.418													11	10					0.000978159	0.00104895	1	0	A	52941671	C	A	52941671	3	1	228	1	0	0	0	0	1	0	0	0	18068	594	21	4	1011	4	ZNF534	19	52941671	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	792930	52941671	6187312	120	41715											
PRKCG	5582	broad.mit.edu	37	chr19	54409991	54409991	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggcgagaactttgacaagTtcttcacgcgggcggcgcca	8	7	14	12	6	2	2	1	1	1	1	2	3	2	2	1	3	1	1	1	3	2	3			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:54409991T>C	ENST00000263431.3	+	18	2218	c.1936T>C	c.(1936-1938)Ttc>Ctc	p.F646L	PRKCG_ENST00000542049.1_Missense_Mutation_p.F497L|PRKCG_ENST00000540413.1_Missense_Mutation_p.F646L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	646	AGC-kinase C-terminal.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CTTTGACAAGTTCTTCACGCG	0.647											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	125					0	0	0	0	C	54409991	T	C	54409991	3	2	228	1	0	0	0	0	1	0	0	0	12592	1725	60	5	2006	5	PRKCG	19	54409991	Missense_Mutation	SNP	T	TCGA-CV-5435-01A-01D-1683-08	1468320	54409991	4718992	121	41716											
JAG1	182	broad.mit.edu	37	chr20	10639359	10639359	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgagaagccttttcaataaTactgtcaggttctagagaca	13	12	9	7	0	3	2	2	1	1	2	3	4	3	2	1	1	2	1	1	1	5	6			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr20:10639359T>C	ENST00000254958.5	-	4	966	c.451A>G	c.(451-453)Att>Gtt	p.I151V	JAG1_ENST00000423891.2_5'UTR	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	151					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTTTCAATAATACTGTCAGGT	0.448									Alagille Syndrome				16	80					0	0	0	0	C	10639359	T	C	10639359	3	2	228	1	0	0	0	0	1	0	0	0	7987	1406	49	5	3297	5	JAG1	20	10639359	Missense_Mutation	SNP	T	TCGA-CV-5435-01A-01D-1683-08		10639359	52386161	122	41717											
ID1	3397	broad.mit.edu	37	chr20	30193543	30193543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaatccgaagttggaacccCcgggggccgagggctgccgg	7	4	18	12	4	0	0	0	0	0	0	1	4	1	2	5	6	2	2	5	6	3	1			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr20:30193543C>T	ENST00000376105.3	+	1	452	c.353C>T	c.(352-354)cCc>cTc	p.P118L	ID1_ENST00000376112.3_Missense_Mutation_p.P118L	NM_181353.2	NP_851998.1	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	118					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GTTGGAACCCCCGGGGGCCGA	0.622													4	17					0	0	0	0	T	30193543	C	T	30193543	3	4	228	1	0	0	0	0	1	0	0	0	7542	623	22	4	355	4	ID1	20	30193543	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	19554184	30193543	32831977	123	41718											
HLCS	3141	broad.mit.edu	37	chr21	38308946	38308946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaaaccaagttctggaCtgtcttgtgcagtgcaccct	10	10	11	10	0	2	1	0	0	2	1	2	3	2	2	2	2	3	3	2	2	3	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr21:38308946C>T	ENST00000399120.1	-	5	2029	c.799G>A	c.(799-801)Gtc>Atc	p.V267I	HLCS_ENST00000336648.3_Missense_Mutation_p.V267I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	267					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AAGTTCTGGACTGTCTTGTGC	0.572													18	44					0	0	0	0	T	38308946	C	T	38308946	3	4	228	1	0	0	0	0	1	0	0	0	7263	565	20	4	1413	4	HLCS	21	38308946	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08		38308946	9820949	124	41719											
CRYBB3	1417	broad.mit.edu	37	chr22	25598707	25598707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggccgagtgccccagcCtgaccgacagcctgctggag	6	6	13	16	3	1	1	0	1	1	0	2	4	1	2	6	2	4	1	6	2	0	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr22:25598707C>A	ENST00000215855.2	+	3	222	c.142C>A	c.(142-144)Ctg>Atg	p.L48M	CRYBB3_ENST00000404334.1_Missense_Mutation_p.L48M	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	48	Beta/gamma crystallin 'Greek key' 1.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						GTGCCCCAGCCTGACCGACAG	0.602											OREG0026423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	34					9.62636e-23	1.23551e-22	1	0	A	25598707	C	A	25598707	3	1	228	1	0	0	0	0	1	0	0	0	3942	680	24	4	148	4	CRYBB3	22	25598707	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08		25598707	25705859	125	41720											
SSTR3	6753	broad.mit.edu	37	chr22	37603421	37603421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgtaccacggccaggtagCggtccacgctcatgacagtc	9	7	12	13	3	1	1	1	1	0	0	3	2	2	1	3	3	2	3	3	3	2	2			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr22:37603421C>T	ENST00000328544.3	-	2	955	c.422G>A	c.(421-423)cGc>cAc	p.R141H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R141H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	141					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GGCCAGGTAGCGGTCCACGCT	0.667													61	71					0	0	0	0	T	37603421	C	T	37603421	3	4	228	1	0	0	0	0	1	0	0	0	15289	768	27	1	838	1	SSTR3	22	37603421	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	12004714	37603421	13701145	126	41721											
KLHDC7B	113730	broad.mit.edu	37	chr22	50987418	50987418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgagcgcatcctcagcctgCggaccggccggggccgggcg	4	3	18	16	7	1	0	1	0	0	0	2	2	2	1	5	5	3	1	5	5	0	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr22:50987418C>T	ENST00000395676.2	+	1	957	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	275										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCAGCCTGCGGACCGGCCG	0.746													10	5					0	0	0	0	T	50987418	C	T	50987418	3	4	228	1	0	0	0	0	1	0	0	0	8413	759	27	1	825	1	KLHDC7B	22	50987418	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08	13383997	50987418	317148	127	41722											
HEPH	9843	broad.mit.edu	37	chrX	65393539	65393539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagaaggccatgcacccaCcgatgctgacccagcgtgcc	9	5	10	17	2	0	2	0	1	0	1	1	3	1	2	6	1	4	2	6	1	1	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chrX:65393539C>T	ENST00000519389.1	+	4	862	c.683C>T	c.(682-684)aCc>aTc	p.T228I	HEPH_ENST00000343002.2_Missense_Mutation_p.T174I|HEPH_ENST00000441993.2_Missense_Mutation_p.T177I|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000419594.1_Missense_Mutation_p.T177I|HEPH_ENST00000374727.3_Missense_Mutation_p.T177I			Q9BQS7	HEPH_HUMAN	hephaestin	174	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATGCACCCACCGATGCTGAC	0.552													5	9					0	0	0	0	T	65393539	C	T	65393539	3	4	228	1	0	0	0	0	1	0	0	0	7104	507	18	4	697	4	HEPH	23	65393539	Missense_Mutation	SNP	C	TCGA-CV-5435-01A-01D-1683-08		65393539	89877021	128	41723											
ESX1	80712	broad.mit.edu	37	chrX	103495254	103495254	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccagggtggcacaggCgccatgcgtggcccgggtgg	4	4	21	12	4	0	0	0	0	0	0	0	0	0	0	3	8	1	1	3	8	0	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chrX:103495254C>T	ENST00000372588.4	-	4	959	c.876G>A	c.(874-876)gcG>gcA	p.A292A		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	292	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GTGGCACAGGCGCCATGCGTG	0.746													12	15					0	0	0	0	T	103495254	C	T	103495254	2	4	228	1	0	0	0	0	0	0	0	1	5301	755	27	1		1	ESX1	23	103495254	Silent	SNP	C	TCGA-CV-5435-01A-01D-1683-08	38101715	103495254	51775306	129	41724											
MAGEA6	4105	broad.mit.edu	37	chrX	151869581	151869581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaggactccagcaaccaaGaagaggaggggccaagcacc	15	2	13	11	0	0	3	0	1	0	2	1	5	1	5	4	4	3	2	4	4	4	0			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chrX:151869581G>A	ENST00000329342.5	+	3	496	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	91							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAACCAAGAAGAGGAGGG	0.557													14	27					0	0	0	0	A	151869581	G	A	151869581	3	1	228	1	0	0	0	0	1	0	0	0	9237	943	33	2	273	2	MAGEA6	23	151869581	Missense_Mutation	SNP	G	TCGA-CV-5435-01A-01D-1683-08	48374327	151869581	3400979	130	41725											
PAX7	5081	broad.mit.edu	37	chr1	18962744	18962744	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctgaggtttagtgagttcGattagccgcgtgctcagaat	8	14	12	7	3	2	3	1	2	1	1	3	4	2	3	1	1	2	3	1	1	3	5			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:18962744G>A	ENST00000420770.2	+	4	548	c.465G>A	c.(463-465)tcG>tcA	p.S155S	PAX7_ENST00000375375.3_Silent_p.S155S|PAX7_ENST00000400661.3_Silent_p.S153S	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	155	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TAGTGAGTTCGATTAGCCGCG	0.522			T	FOXO1A	alveolar rhabdomyosarcoma								47	100					0	0	0	0	A	18962744	G	A	18962744	2	1	229	1	0	0	0	0	0	0	0	1	11555	1045	37	1		1	PAX7	1	18962744	Silent	SNP	G	TCGA-CV-5436-01A-01D-1512-08		18962744	230287877	1	41726											
UBR4	23352	broad.mit.edu	37	chr1	19408294	19408295	+	Frame_Shift_Ins	INS	-	-	C																															catcttcccttcttccctggINSccccatgtctagctcctacc																								rs75559748	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:19408294_19408295insC	ENST00000375225.3	-	1	439_440	c.6_7insG	c.(4-9)ggcaggfs	p.R3fs	UBR4_ENST00000375224.1_Intron|UBR4_ENST00000543981.1_Intron|UBR4_ENST00000375267.2_Intron|UBR4_ENST00000375217.2_Intron|UBR4_ENST00000375226.2_Intron|UBR4_ENST00000375254.3_Intron|UBR4_ENST00000429347.2_Intron			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	0					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCTTCCCTGGCCCCATGTCTA	0.545													5	4	---	---	---	---					C	19408295	-	C	19408294	7	5	229	1	0	1	1	0	0	0	0	0	17000	1218	42	0		0	UBR4	1	19408294	Frame_Shift_Ins	INS	-	TCGA-CV-5436-01A-01D-1512-08	445550	19408294	229842327	2	41727											
EPHA10	284656	broad.mit.edu	37	chr1	38181550	38181550	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgcagagagatctcagacGcagattctggacacccctgt	11	9	10	11	1	2	4	1	0	2	4	3	6	2	5	2	1	1	2	2	1	1	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:38181550G>A	ENST00000330210.7	-	14	1939	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_3'UTR			Q5JZY3	EPHAA_HUMAN	EPH receptor A10	0	Fibronectin type-III 2.					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)				GATCTCAGACGCAGATTCTGG	0.557													18	43					0	0	0	0	A	38181550	G	A	38181550	2	1	229	1	0	0	0	0	0	0	0	1	5204	1102	38	1		1	EPHA10	1	38181550	Silent	SNP	G	TCGA-CV-5436-01A-01D-1512-08	18773256	38181550	211069071	3	41728											
EPS8L3	79574	broad.mit.edu	37	chr1	110294291	110294291	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtacccgagagggtgactgGccctgggtcccaggggtccc	6	6	16	13	1	0	2	0	1	0	1	2	3	2	2	4	5	1	1	4	5	1	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:110294291G>A	ENST00000369805.3	-	16	1780	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G	EPS8L3_ENST00000361852.4_Silent_p.G486G|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Silent_p.G516G	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	516						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGGTGACTGGCCCTGGGTCC	0.622													33	44					0	0	0	0	A	110294291	G	A	110294291	2	1	229	1	0	0	0	0	0	0	0	1	5235	1190	42	4		4	EPS8L3	1	110294291	Silent	SNP	G	TCGA-CV-5436-01A-01D-1512-08	72112741	110294291	138956330	4	41729											
FLG	2312	broad.mit.edu	37	chr1	152277201	152277201	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgagtgctcacctggtaGaggaaagaccctgaacgtcc	11	8	11	11	1	2	4	2	2	0	2	3	5	3	5	3	2	2	2	3	2	3	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:152277201G>A	ENST00000368799.1	-	3	10196	c.10161C>T	c.(10159-10161)ctC>ctT	p.L3387L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3387	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCTGGTAGAGGAAAGACC	0.612									Ichthyosis				201	385					0	0	0	0	A	152277201	G	A	152277201	2	1	229	1	0	0	0	0	0	0	0	1	5967	929	33	2		2	FLG	1	152277201	Silent	SNP	G	TCGA-CV-5436-01A-01D-1512-08	41982910	152277201	96973420	5	41730											
DENND4B	9909	broad.mit.edu	37	chr1	153905961	153905961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctccttcactggctacctCggaggcagtggatccagggc	6	8	12	15	1	1	0	1	0	0	0	4	2	3	2	4	5	1	2	4	5	1	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:153905961C>T	ENST00000361217.4	-	20	3746	c.3328G>A	c.(3328-3330)Gag>Aag	p.E1110K		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1110	Ser-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGGCTACCTCGGAGGCAGTG	0.647													10	19					0	0	0	0	T	153905961	C	T	153905961	3	4	229	1	0	0	0	0	1	0	0	0	4471	893	31	1	1198	1	DENND4B	1	153905961	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	1628760	153905961	95344660	6	41731											
DENND4B	9909	broad.mit.edu	37	chr1	153906274	153906274	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctcctcccctgtcaggctCaggtctgagagacttccatc	6	10	10	15	0	3	2	2	1	1	1	7	3	6	2	4	3	0	2	4	3	0	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:153906274C>G	ENST00000361217.4	-	20	3433	c.3015G>C	c.(3013-3015)ctG>ctC	p.L1005L		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1005										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGTCAGGCTCAGGTCTGAGA	0.642													13	14					0	0	0	0	G	153906274	C	G	153906274	2	3	229	1	0	0	0	0	0	0	0	1	4471	813	29	2		2	DENND4B	1	153906274	Silent	SNP	C	TCGA-CV-5436-01A-01D-1512-08	313	153906274	95344347	7	41732											
QSOX1	5768	broad.mit.edu	37	chr1	180155269	180155269	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaggttcccggtcctggaAgggcagcgcctggtggccct	4	7	17	13	2	0	0	0	0	0	0	2	1	2	1	4	7	1	3	4	7	1	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:180155269A>G	ENST00000367602.3	+	8	1043	c.969A>G	c.(967-969)gaA>gaG	p.E323E	QSOX1_ENST00000367600.5_Silent_p.E323E			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	323					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGGTCCTGGAAGGGCAGCGCC	0.577													20	53					0	0	0	0	G	180155269	A	G	180155269	2	3	229	1	0	0	0	0	0	0	0	1	12965	69	3	5		5	QSOX1	1	180155269	Silent	SNP	A	TCGA-CV-5436-01A-01D-1512-08	26248995	180155269	69095352	8	41733											
RNPEP	6051	broad.mit.edu	37	chr1	201965306	201965306	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctgagccctgcctgattGatgctgccaaggaggagtac	8	8	15	10	0	0	3	0	3	0	0	0	5	0	5	3	3	5	3	3	3	2	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:201965306G>C	ENST00000295640.4	+	4	812	c.769G>C	c.(769-771)Gat>Cat	p.D257H	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Intron	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	257					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CTGCCTGATTGATGCTGCCAA	0.493													57	108					0	0	0	0	C	201965306	G	C	201965306	3	2	229	1	0	0	0	0	1	0	0	0	13594	1290	45	2	783	2	RNPEP	1	201965306	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	21810037	201965306	47285315	9	41734											
CENPF	1063	broad.mit.edu	37	chr1	214816433	214816433	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaggaaattcaagagctCgagcagttattaagttctga	16	11	9	5	1	2	2	1	1	1	1	3	4	2	3	0	1	2	4	0	1	6	5			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:214816433C>A	ENST00000366955.3	+	12	4920	c.4752C>A	c.(4750-4752)ctC>ctA	p.L1584L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1680	2 X 96 AA approximate tandem repeats.		Missing.		cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTCAAGAGCTCGAGCAGTTAT	0.443													3	95					1	1	1	0	A	214816433	C	A	214816433	2	1	229	1	0	0	0	0	0	0	0	1	3260	871	31	3		3	CENPF	1	214816433	Silent	SNP	C	TCGA-CV-5436-01A-01D-1512-08	12851127	214816433	34434188	10	41735											
KCTD3	51133	broad.mit.edu	37	chr1	215777507	215777507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggatcgagatcgcctatgGtacgagctctggagcagtac	9	9	13	10	3	1	1	0	0	1	1	3	5	1	3	1	3	4	4	1	3	3	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:215777507G>A	ENST00000259154.4	+	13	1466	c.1172G>A	c.(1171-1173)gGt>gAt	p.G391D		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	391						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATCGCCTATGGTACGAGCTCT	0.453													33	86					0	0	0	0	A	215777507	G	A	215777507	3	1	229	1	0	0	0	0	1	0	0	0	8163	1261	44	4	1222	4	KCTD3	1	215777507	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	961074	215777507	33473114	11	41736											
HHIPL2	79802	broad.mit.edu	37	chr1	222717416	222717416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtcagcagggaaatggctGagtgacagttagaatggaag	13	8	16	4	0	1	3	1	2	0	1	1	5	1	5	0	4	1	3	0	4	4	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:222717416G>A	ENST00000343410.6	-	2	495	c.437C>T	c.(436-438)tCa>tTa	p.S146L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	146					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGAAATGGCTGAGTGACAGTT	0.587													70	142					0	0	0	0	A	222717416	G	A	222717416	3	1	229	1	0	0	0	0	1	0	0	0	7144	1294	45	2	1769	2	HHIPL2	1	222717416	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	6939909	222717416	26533205	12	41737											
APOB	338	broad.mit.edu	37	chr2	21233522	21233522	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcttgcaaggtctcaaaaAatgggaggttaatggagtga	14	11	12	4	0	2	1	1	1	2	0	3	3	2	3	0	4	1	2	0	4	5	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:21233522A>G	ENST00000233242.1	-	26	6345	c.6218T>C	c.(6217-6219)tTt>tCt	p.F2073S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2073	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGTCTCAAAAAATGGGAGGTT	0.358													59	102					0	0	0	0	G	21233522	A	G	21233522	3	3	229	1	0	0	0	0	1	0	0	0	787	14	1	5	7489	5	APOB	2	21233522	Missense_Mutation	SNP	A	TCGA-CV-5436-01A-01D-1512-08		21233522	221965851	13	41738											
ADCY3	109	broad.mit.edu	37	chr2	25061315	25061315	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggggtggggaactcaccGagccattgaggccattctgg	7	8	17	9	1	2	1	1	1	1	0	2	3	2	2	3	7	2	0	3	7	1	2	rs139407103	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:25061315G>A	ENST00000260600.5	-	7	2383	c.1533_splice	c.e7+1	p.S511_splice	ADCY3_ENST00000405392.1_Splice_Site_p.S144_splice	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	511					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ggAACTCACCGAGCCATTGAG	0.547													12	67					0	0	0	0	A	25061315	G	A	25061315	5	1	229	1	0	0	0	0	0	0	1	0	295	1072	37	1	1962	1	ADCY3	2	25061315	Splice_Site	SNP	G	TCGA-CV-5436-01A-01D-1512-08	3827793	25061315	218138058	14	41739											
MEIS1	4211	broad.mit.edu	37	chr2	66739354	66739354	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgataaggacaaaaagcgTcacaaaaagcgtggcatctt	16	7	9	9	2	2	1	1	1	1	0	2	2	2	2	1	2	2	1	1	2	5	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:66739354T>C	ENST00000488550.1	+	8	1115	c.816T>C	c.(814-816)cgT>cgC	p.R272R	MEIS1_ENST00000407092.2_Silent_p.R272R|MEIS1_ENST00000560281.2_Silent_p.R272R|MEIS1_ENST00000272369.9_Silent_p.R272R|MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000398506.2_Silent_p.R270R|MEIS1_ENST00000495021.2_Silent_p.R207R|MEIS1_ENST00000444274.2_Intron			O00470	MEIS1_HUMAN	Meis homeobox 1	272			R -> H (found in a patient with susceptibility to restless legs syndrome; also found in unaffected persons, although very rare; dbSNP:rs61752693).				sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						ACAAAAAGCGTCACAAAAAGC	0.438													16	14					0	0	0	0	C	66739354	T	C	66739354	2	2	229	1	0	0	0	0	0	0	0	1	9536	1654	58	5		5	MEIS1	2	66739354	Silent	SNP	T	TCGA-CV-5436-01A-01D-1512-08	41678039	66739354	176460019	15	41740											
MAL	4118	broad.mit.edu	37	chr2	95713749	95713749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtggcctcctccctggtgCcctggcccctggtccagggc	1	9	14	17	0	0	0	0	0	0	0	3	0	3	0	7	6	1	0	7	6	0	0			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:95713749C>T	ENST00000309988.4	+	2	248	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.P47S|MAL_ENST00000354078.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	47	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CTCCCTGGTGCCCTGGCCCCT	0.632													37	82					0	0	0	0	T	95713749	C	T	95713749	3	4	229	1	0	0	0	0	1	0	0	0	9268	739	26	4	145	4	MAL	2	95713749	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	28974395	95713749	147485624	16	41741											
ZAP70	7535	broad.mit.edu	37	chr2	98355850	98355850	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccacaggtgggaggatcgCcccgacttcctgaccgtgga	7	6	13	15	3	0	1	0	1	0	0	2	5	1	4	6	4	0	0	6	4	0	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:98355850C>A	ENST00000264972.5	+	14	1964	c.1749C>A	c.(1747-1749)cgC>cgA	p.R583R	ZAP70_ENST00000442208.1_Silent_p.R457R|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.R276R	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	583	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGAGGATCGCCCCGACTTCC	0.657													22	41					3.62473e-10	3.95425e-10	1	0	A	98355850	C	A	98355850	2	1	229	1	0	0	0	0	0	0	0	1	17610	726	26	4		4	ZAP70	2	98355850	Silent	SNP	C	TCGA-CV-5436-01A-01D-1512-08	2642101	98355850	144843523	17	41742											
NMI	9111	broad.mit.edu	37	chr2	152135384	152135384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgcttgtcctttttgtaTctcataaggaactttcgagc	9	16	8	8	1	1	0	1	0	1	0	4	2	2	1	1	1	3	2	1	1	4	6			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:152135384T>C	ENST00000243346.5	-	4	768	c.298A>G	c.(298-300)Ata>Gta	p.I100V		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	100					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CCTTTTTGTATCTCATAAGGA	0.338													19	51					0	0	0	0	C	152135384	T	C	152135384	3	2	229	1	0	0	0	0	1	0	0	0	10567	1435	50	5	645	5	NMI	2	152135384	Missense_Mutation	SNP	T	TCGA-CV-5436-01A-01D-1512-08	53779534	152135384	91063989	18	41743											
TTN	7273	broad.mit.edu	37	chr2	179501212	179501212	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcatcggaaagttgaaCatcaatgatgtgcagctttc	13	10	9	9	1	1	2	1	2	0	0	3	3	1	3	1	1	4	4	1	1	3	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:179501212C>G	ENST00000589042.1	-	225	41466	c.41242G>C	c.(41242-41244)Gtt>Ctt	p.V13748L	TTN_ENST00000359218.5_Missense_Mutation_p.V4808L|TTN_ENST00000342992.6_Missense_Mutation_p.V11180L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4683L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12107L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4875L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12107	Ig-like 93.						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)			GAAAGTTGAACATCAATGATG	0.418													30	161					0	0	0	0	G	179501212	C	G	179501212	3	3	229	1	0	0	0	0	1	0	0	0	16831	478	17	4	67003	4	TTN	2	179501212	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	27365828	179501212	63698161	19	41744											
TTN	7273	broad.mit.edu	37	chr2	179597359	179597359	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatctgattgtgagaggagTagatccttggaaagtgctct	10	12	12	7	0	2	3	0	2	2	2	3	6	3	5	2	2	1	2	2	2	2	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:179597359T>C	ENST00000589042.1	-	56	16653	c.16429A>G	c.(16429-16431)Act>Gct	p.T5477A	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T4233A|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T5160A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5160	Ig-like 35.						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)			GTGAGAGGAGTAGATCCTTGG	0.468													23	67					0	0	0	0	C	179597359	T	C	179597359	3	2	229	1	0	0	0	0	1	0	0	0	16831	1638	57	5	88328	5	TTN	2	179597359	Missense_Mutation	SNP	T	TCGA-CV-5436-01A-01D-1512-08	96147	179597359	63602014	20	41745											
WDR12	55759	broad.mit.edu	37	chr2	203745631	203745631	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatatctgtaggaatacaaTttattgtctgctcctccact	11	15	6	9	0	2	0	0	0	2	0	4	2	4	1	2	1	2	2	2	1	7	6			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:203745631T>C	ENST00000261015.3	-	13	1973	c.1224A>G	c.(1222-1224)aaA>aaG	p.K408K		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	408	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						AGGAATACAATTTATTGTCTG	0.323													28	23					0	0	0	0	C	203745631	T	C	203745631	2	2	229	1	0	0	0	0	0	0	0	1	17370	1490	52	5		5	WDR12	2	203745631	Silent	SNP	T	TCGA-CV-5436-01A-01D-1512-08	24148272	203745631	39453742	21	41746											
DOCK10	55619	broad.mit.edu	37	chr2	225662626	225662626	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgacttggaaaaagagcaTgtaggtatcaaagacccttt	15	11	9	6	0	1	3	1	1	0	2	1	4	1	4	1	2	1	3	1	2	5	5			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:225662626T>A	ENST00000409592.3	-	42	4662	c.4549A>T	c.(4549-4551)Atg>Ttg	p.M1517L	DOCK10_ENST00000258390.7_Missense_Mutation_p.M1523L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1523							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAAAAGAGCATGTAGGTATCA	0.408													51	58					0	0	0	0	A	225662626	T	A	225662626	3	1	229	1	0	0	0	0	1	0	0	0	4721	1464	51	5	2053	5	DOCK10	2	225662626	Missense_Mutation	SNP	T	TCGA-CV-5436-01A-01D-1512-08	21916995	225662626	17536747	22	41747											
SH3BP4	23677	broad.mit.edu	37	chr2	235951774	235951774	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgccgctcacctttttctgCcgggcagagctggatagtga	6	11	12	12	2	2	2	1	1	1	1	2	3	2	3	3	2	3	3	3	2	1	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:235951774C>A	ENST00000409212.1	+	4	2868	c.2361C>A	c.(2359-2361)tgC>tgA	p.C787*	SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.C787*|SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.C787*			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	787					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.C787C(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCTTTTTCTGCCGGGCAGAGC	0.582													13	15					1.67942e-08	1.8086e-08	1	0	A	235951774	C	A	235951774	4	1	229	1	0	0	0	0	0	1	0	0	14333	747	26	4	2367	4	SH3BP4	2	235951774	Nonsense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	10289148	235951774	7247599	23	41748											
HACL1	26061	broad.mit.edu	37	chr3	15616518	15616518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctggctgatatcttggaGgcagtccaaaatgtaaaatc	13	11	9	8	0	2	1	0	1	2	0	4	2	3	2	1	3	0	3	1	3	5	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:15616518G>A	ENST00000321169.5	-	10	1242	c.875C>T	c.(874-876)cCt>cTt	p.P292L	HACL1_ENST00000457447.2_Missense_Mutation_p.P266L|HACL1_ENST00000451445.2_Missense_Mutation_p.P210L|HACL1_ENST00000456194.2_Missense_Mutation_p.P265L|HACL1_ENST00000435217.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	292					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						ATATCTTGGAGGCAGTCCAAA	0.343													18	18					0	0	0	0	A	15616518	G	A	15616518	3	1	229	1	0	0	0	0	1	0	0	0	6991	1000	35	4	893	4	HACL1	3	15616518	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08		15616518	182405912	24	41749											
POLQ	10721	broad.mit.edu	37	chr3	121207907	121207907	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacctgttttttcttgtaGtctagaaatatttagaaaat	13	18	6	4	0	2	2	0	0	2	2	2	2	2	2	1	0	1	3	1	0	8	10			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:121207907G>C	ENST00000264233.5	-	16	3999	c.3871C>G	c.(3871-3873)Cta>Gta	p.L1291V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1291					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTTCTTGTAGTCTAGAAATA	0.333								DNA polymerases (catalytic subunits)					64	200					0	0	0	0	C	121207907	G	C	121207907	3	2	229	1	0	0	0	0	1	0	0	0	12280	1020	36	4	3961	4	POLQ	3	121207907	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	105591389	121207907	76814523	25	41750											
SEMA5B	54437	broad.mit.edu	37	chr3	122645415	122645415	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacgtcattcttgcacacGcgggccacgcgagagtacac	9	6	10	16	5	2	1	1	0	1	1	2	2	2	1	2	1	2	2	2	1	1	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:122645415G>A	ENST00000195173.4	-	9	1263	c.960C>T	c.(958-960)cgC>cgT	p.R320R	SEMA5B_ENST00000357599.3_Silent_p.R320R|SEMA5B_ENST00000451055.2_Silent_p.R374R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	320	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TCTTGCACACGCGGGCCACGC	0.617													19	58					0	0	0	0	A	122645415	G	A	122645415	2	1	229	1	0	0	0	0	0	0	0	1	14125	1074	38	1		1	SEMA5B	3	122645415	Silent	SNP	G	TCGA-CV-5436-01A-01D-1512-08	1437508	122645415	75377015	26	41751											
PIK3R4	30849	broad.mit.edu	37	chr3	130454754	130454754	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaattttatttagcacttGttcagggaaaaaatgtccat	13	16	6	6	0	2	0	2	0	0	0	3	1	3	1	1	1	1	2	1	1	6	7			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:130454754G>C	ENST00000356763.3	-	3	1383	c.826C>G	c.(826-828)Caa>Gaa	p.Q276E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	276	Protein kinase.				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						TTTAGCACTTGTTCAGGGAAA	0.333													44	182					0	0	0	0	C	130454754	G	C	130454754	3	2	229	1	0	0	0	0	1	0	0	0	11993	1386	48	4	3322	4	PIK3R4	3	130454754	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	7809339	130454754	67567676	27	41752											
MED12L	116931	broad.mit.edu	37	chr3	150903227	150903227	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaaaactcctggagaagagGcaagcagaaattgaggcaga	17	4	13	7	0	0	5	0	1	0	4	1	6	1	5	1	3	2	4	1	3	5	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:150903227G>A	ENST00000474524.1	+	11	1643	c.1605G>A	c.(1603-1605)agG>agA	p.R535R	MED12L_ENST00000309237.4_Silent_p.R535R|MED12L_ENST00000422248.2_Silent_p.R535R|MED12L_ENST00000273432.4_Silent_p.R395R	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	535					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGAGAAGAGGCAAGCAGAAA	0.478													20	51					0	0	0	0	A	150903227	G	A	150903227	2	1	229	1	0	0	0	0	0	0	0	1	9498	1194	42	4		4	MED12L	3	150903227	Silent	SNP	G	TCGA-CV-5436-01A-01D-1512-08	20448473	150903227	47119203	28	41753											
RTP4	64108	broad.mit.edu	37	chr3	187089105	187089106	+	Frame_Shift_Del	DEL	TG	TG	-																															acccagatccactgaacatcTgtgtctttattttgctgctt																										TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:187089105_187089106delTG	ENST00000259030.2	+	2	795_796	c.685_686delTG	c.(685-687)tfs	p.C229fs		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	229					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ACTGAACATCTGTGTCTTTATT	0.421													62	63	---	---	---	---					-	187089106	TG	-	187089105	7	5	229	1	0	1	0	1	0	0	0	0	13821	1580	55	0	691	0	RTP4	3	187089105	Frame_Shift_Del	DEL	TG	TCGA-CV-5436-01A-01D-1512-08	36185878	187089105	10933325	29	41754											
DRD5	1816	broad.mit.edu	37	chr4	9784853	9784853	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atctcctacaaccaagacatCgtcttccacaaggaaatcgc	14	8	5	14	2	2	1	0	0	2	1	6	2	3	2	3	1	2	0	3	1	5	2	rs114936842	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:9784853C>G	ENST00000304374.2	+	1	1596	c.1200C>G	c.(1198-1200)atC>atG	p.I400M		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	400					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.I400M(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACCAAGACATCGTCTTCCACA	0.592													3	66					0	0	0	0	G	9784853	C	G	9784853	3	3	229	1	0	0	0	0	1	0	0	0	4796	874	31	3	1202	3	DRD5	4	9784853	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08		9784853	181369423	30	41755											
SMR3A	26952	broad.mit.edu	37	chr4	71227862	71227862	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgacttggatcttgggcctTtgggctcttgcagcgtgttt	3	16	13	9	1	2	1	0	1	2	0	2	2	2	2	1	3	2	3	1	3	0	5			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:71227862T>G	ENST00000226460.4	+	2	126	c.30T>G	c.(28-30)ctT>ctG	p.L10L		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	10						extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCTTGGGCCTTTGGGCTCTTG	0.338													60	187					0	0	0	0	G	71227862	T	G	71227862	2	3	229	1	0	0	0	0	0	0	0	1	14899	1828	64	5		5	SMR3A	4	71227862	Silent	SNP	T	TCGA-CV-5436-01A-01D-1512-08	61443009	71227862	119926414	31	41756											
CXCL6	6372	broad.mit.edu	37	chr4	74702557	74702557	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctcctgctgacgccGccggggcccctcgccagcgg	2	6	14	19	5	0	1	0	1	0	0	2	1	1	1	6	3	4	3	6	3	0	0			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:74702557G>A	ENST00000226317.5	+	1	344	c.90G>A	c.(88-90)ccG>ccA	p.P30P	CXCL6_ENST00000515050.1_Silent_p.P30P	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	30					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGCTGACGCCGCCGGGGCCCC	0.716													3	56					0	0	0	0	A	74702557	G	A	74702557	2	1	229	1	0	0	0	0	0	0	0	1	4120	1074	38	1		1	CXCL6	4	74702557	Silent	SNP	G	TCGA-CV-5436-01A-01D-1512-08	3474695	74702557	116451719	32	41757											
KIAA1109	84162	broad.mit.edu	37	chr4	123140523	123140523	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttggggaagatgacatgtAtatggattttgaagaggtta	12	14	13	2	0	0	4	0	2	0	2	0	6	0	6	0	4	0	2	0	4	5	6			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:123140523A>G	ENST00000264501.4	+	21	2649	c.2276A>G	c.(2275-2277)tAt>tGt	p.Y759C	KIAA1109_ENST00000455637.1_Missense_Mutation_p.Y759C|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y759C			Q2LD37	K1109_HUMAN	KIAA1109	759					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GATGACATGTATATGGATTTT	0.353													73	209					0	0	0	0	G	123140523	A	G	123140523	3	3	229	1	0	0	0	0	1	0	0	0	8259	449	16	5	2350	5	KIAA1109	4	123140523	Missense_Mutation	SNP	A	TCGA-CV-5436-01A-01D-1512-08	48437966	123140523	68013753	33	41758											
TMEM154	201799	broad.mit.edu	37	chr4	153601078	153601078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactagggctgcgcggggaGcctgcatgtccgctcgcctc	5	7	15	14	4	0	1	0	0	0	1	3	2	1	2	3	3	3	3	3	3	1	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:153601078G>A	ENST00000304385.3	-	1	239	c.8C>T	c.(7-9)gCt>gTt	p.A3V	TMEM154_ENST00000504064.1_Missense_Mutation_p.A3V	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	3						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGCGCGGGGAGCCTGCATGTC	0.642													5	14					0	0	0	0	A	153601078	G	A	153601078	3	1	229	1	0	0	0	0	1	0	0	0	16165	971	34	4	571	4	TMEM154	4	153601078	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	30460555	153601078	37553198	34	41759											
MARCH6	10299	broad.mit.edu	37	chr5	10433762	10433762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaatctggcaaacaaggctCatctccaccacctccacagt	13	7	6	15	0	3	0	1	0	2	0	5	1	4	0	4	2	1	2	4	2	3	0			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:10433762C>T	ENST00000274140.5	+	26	2831	c.2699C>T	c.(2698-2700)tCa>tTa	p.S900L	MARCH6_ENST00000510792.1_Missense_Mutation_p.S598L|MARCH6_ENST00000503788.1_Missense_Mutation_p.S795L|MARCH6_ENST00000449913.2_Missense_Mutation_p.S852L	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	900					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AAACAAGGCTCATCTCCACCA	0.443													23	54					0	0	0	0	T	10433762	C	T	10433762	3	4	229	1	0	0	0	0	1	0	0	0	9374	838	29	2	2801	2	MARCH6	5	10433762	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08		10433762	170481498	35	41760											
CTNND2	1501	broad.mit.edu	37	chr5	11397249	11397249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttgctatggtagctggccGgatactggaaagacccttca	9	10	13	9	1	1	1	1	0	0	1	1	3	1	3	2	5	3	4	2	5	4	5			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:11397249G>A	ENST00000304623.8	-	6	695	c.506C>T	c.(505-507)cCg>cTg	p.P169L	CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.P169L|CTNND2_ENST00000511377.1_Missense_Mutation_p.P78L|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	169					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGCTGGCCGGATACTGGAA	0.587													44	74					0	0	0	0	A	11397249	G	A	11397249	3	1	229	1	0	0	0	0	1	0	0	0	4052	1116	39	1	3239	1	CTNND2	5	11397249	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	963487	11397249	169518011	36	41761											
SLC27A6	28965	broad.mit.edu	37	chr5	128365282	128365282	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttcaggttatgaaggaaGagcaggaatggcttctatta	12	14	11	4	0	2	2	1	1	1	1	2	4	2	4	0	4	1	3	0	4	6	6			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:128365282G>C	ENST00000262462.4	+	9	2575	c.1565G>C	c.(1564-1566)aGa>aCa	p.R522T	SLC27A6_ENST00000395266.1_Missense_Mutation_p.R522T|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R522T			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	522					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TATGAAGGAAGAGCAGGAATG	0.303													23	67					0	0	0	0	C	128365282	G	C	128365282	3	2	229	1	0	0	0	0	1	0	0	0	14618	942	33	2	1599	2	SLC27A6	5	128365282	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	116968033	128365282	52549978	37	41762											
SPOCK1	6695	broad.mit.edu	37	chr5	136448238	136448238	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtgtttctgggccacgttCcccttcttttgcctaaagat	6	15	8	12	1	2	1	0	0	2	1	3	1	3	1	4	1	1	2	4	1	2	6			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:136448238C>T	ENST00000394945.1	-	5	529	c.360G>A	c.(358-360)ggG>ggA	p.G120G	SPOCK1_ENST00000282223.7_Silent_p.G120G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	120					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCCACGTTCCCCTTCTTTT	0.488													22	70					0	0	0	0	T	136448238	C	T	136448238	2	4	229	1	0	0	0	0	0	0	0	1	15169	842	30	2		2	SPOCK1	5	136448238	Silent	SNP	C	TCGA-CV-5436-01A-01D-1512-08	8082956	136448238	44467022	38	41763											
PPARGC1B	133522	broad.mit.edu	37	chr5	149225491	149225491	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactacggtaagcccctgaaAcccagccacagtctagtaag	13	6	9	13	1	1	1	0	1	1	0	1	2	1	1	4	1	4	2	4	1	5	4			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:149225491A>C	ENST00000394320.3	+	11	3027	c.2985A>C	c.(2983-2985)aaA>aaC	p.K995N	PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000309241.5_Intron|PPARGC1B_ENST00000403750.1_Intron			Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	0					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGCCCCTGAAACCCAGCCACA	0.567													8	42					0	0	0	0	C	149225491	A	C	149225491	3	2	229	1	0	0	0	0	1	0	0	0	12372	58	2	5		5	PPARGC1B	5	149225491	Missense_Mutation	SNP	A	TCGA-CV-5436-01A-01D-1512-08	12777253	149225491	31689769	39	41764											
CDYL	9425	broad.mit.edu	37	chr6	4892155	4892155	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacaggacctctcccaacaAtgctaggaaacaaatctcca	17	6	5	13	0	2	0	0	0	2	0	4	2	2	2	3	2	4	1	3	2	6	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:4892155A>T	ENST00000343762.5	+	0	344				CDYL_ENST00000328908.5_Missense_Mutation_p.N132I|CDYL_ENST00000397588.3_Missense_Mutation_p.N78I|CDYL_ENST00000449732.2_De_novo_Start_OutOfFrame|CDYL_ENST00000472453.1_Intron	NM_001143971.1	NP_001137443.1	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like						regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TCTCCCAACAATGCTAGGAAA	0.483													41	45					0	0	0	0	T	4892155	A	T	4892155	1	4	229	1	0	0	0	0	0	0	0	0	3214	101	4	5		5	CDYL	6	4892155	Translation_Start_Site	SNP	A	TCGA-CV-5436-01A-01D-1512-08		4892155	166222912	40	41765											
ZNF184	7738	broad.mit.edu	37	chr6	27420364	27420364	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgccagtatgaattctcTgatgctgaacaagatgggtc	10	12	10	9	1	2	4	0	3	2	1	5	4	2	4	1	1	2	2	1	1	4	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:27420364T>C	ENST00000211936.6	-	6	1258	c.974A>G	c.(973-975)cAg>cGg	p.Q325R	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q325R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGAATTCTCTGATGCTGAAC	0.403													32	42					0	0	0	0	C	27420364	T	C	27420364	3	2	229	1	0	0	0	0	1	0	0	0	17846	1580	55	5	1285	5	ZNF184	6	27420364	Missense_Mutation	SNP	T	TCGA-CV-5436-01A-01D-1512-08	22528209	27420364	143694703	41	41766											
PGBD1	84547	broad.mit.edu	37	chr6	28264676	28264676	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtctgactcggaggaacctCtgtgggaactcagctcagga	10	8	13	10	1	4	1	2	1	2	0	5	5	4	5	1	4	3	1	1	4	2	0			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:28264676C>G	ENST00000405948.2	+	5	1146	c.726C>G	c.(724-726)ctC>ctG	p.L242L	PGBD1_ENST00000259883.3_Silent_p.L242L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	242					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGAGGAACCTCTGTGGGAACT	0.512													4	80					0	0	0	0	G	28264676	C	G	28264676	2	3	229	1	0	0	0	0	0	0	0	1	11852	900	32	2		2	PGBD1	6	28264676	Silent	SNP	C	TCGA-CV-5436-01A-01D-1512-08	844312	28264676	142850391	42	41767											
EYS	346007	broad.mit.edu	37	chr6	66204885	66204885	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgtcccaacactcagcCacttagaattaacagtgtgc	13	10	7	11	0	1	1	1	0	0	1	2	1	2	1	2	0	4	0	2	0	5	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:66204885C>A	ENST00000503581.1	-	4	956	c.419G>T	c.(418-420)tGg>tTg	p.W140L	EYS_ENST00000370616.2_Missense_Mutation_p.W140L|EYS_ENST00000393380.2_Missense_Mutation_p.W140L|EYS_ENST00000342421.5_Missense_Mutation_p.W140L|EYS_ENST00000370618.3_Missense_Mutation_p.W140L|EYS_ENST00000370621.3_Missense_Mutation_p.W140L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	140					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AACACTCAGCCACTTAGAATT	0.423													39	79					6.97489e-18	7.81187e-18	1	0	A	66204885	C	A	66204885	3	1	229	1	0	0	0	0	1	0	0	0	5370	595	21	4	9137	4	EYS	6	66204885	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	37940209	66204885	104910182	43	41768											
SYNCRIP	10492	broad.mit.edu	37	chr6	86328538	86328538	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatacaaatttcactcacatTtgattttttgctgcttgcct	9	19	4	9	0	2	1	2	1	0	0	2	1	2	1	1	0	4	2	1	0	3	8			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:86328538T>C	ENST00000355238.6	-	10	1484	c.1278A>G	c.(1276-1278)caA>caG	p.Q426Q	SYNCRIP_ENST00000369622.3_Silent_p.Q426Q	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	426	Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCACTCACATTTGATTTTTTG	0.308													7	19					0	0	0	0	C	86328538	T	C	86328538	2	2	229	1	0	0	0	0	0	0	0	1	15535	1838	64	5		5	SYNCRIP	6	86328538	Silent	SNP	T	TCGA-CV-5436-01A-01D-1512-08	20123653	86328538	84786529	44	41769											
EPHA7	2045	broad.mit.edu	37	chr6	93956564	93956564	+	Missense_Mutation	SNP	T	T	A																															ttgggtttcgaatcattttgTctagaattccaactatctgt																										TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:93956564T>A	ENST00000369303.4	-	15	2856	c.2672A>T	c.(2671-2673)gAc>gTc	p.D891V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	891	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATCATTTTGTCTAGAATTCC	0.433													44	112					0	0	0	0	A	93956564	T	A	93956564	3	1	229	1	0	0	0	0	1	0	0	0	5210	1667	58	5	336	5	EPHA7	6	93956564	Missense_Mutation	SNP	T	TCGA-CV-5436-01A-01D-1512-08	7628026	93956564	77158503	45	41770	317	2									
EPHA7	2045	broad.mit.edu	37	chr6	93956565	93956565	+	Missense_Mutation	SNP	C	C	A																															tgggtttcgaatcattttgtCtagaattccaactatctgtt																										TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:93956565C>A	ENST00000369303.4	-	15	2855	c.2671G>T	c.(2671-2673)Gac>Tac	p.D891Y		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	891	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.D891Y(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCATTTTGTCTAGAATTCCA	0.433													43	110					6.4771e-29	7.4024e-29	1	0	A	93956565	C	A	93956565	3	1	229	1	0	0	0	0	1	0	0	0	5210	913	32	2	337	2	EPHA7	6	93956565	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	1	93956565	77158502	46	41771	317	2									
FUT9	10690	broad.mit.edu	37	chr6	96651080	96651080	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatttttaattgtctgcAttatcctgggctgtttcatg	6	18	8	9	0	2	0	1	0	1	0	3	0	3	0	2	1	1	3	2	1	2	6			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:96651080A>G	ENST00000302103.5	+	3	375	c.49A>G	c.(49-51)Att>Gtt	p.I17V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	17					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATTGTCTGCATTATCCTGGG	0.423													69	119					0	0	0	0	G	96651080	A	G	96651080	3	3	229	1	0	0	0	0	1	0	0	0	6159	217	8	5	51	5	FUT9	6	96651080	Missense_Mutation	SNP	A	TCGA-CV-5436-01A-01D-1512-08	2694515	96651080	74463987	47	41772											
SOBP	55084	broad.mit.edu	37	chr6	107955178	107955178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagcatcgggcctccccttgGcgtcccgcctcggagccctc	3	8	11	19	4	0	0	0	0	0	0	5	1	2	1	6	3	2	1	6	3	1	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:107955178G>A	ENST00000317357.5	+	6	1789	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	377	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCTCCCCTTGGCGTCCCGCCT	0.647													47	97					0	0	0	0	A	107955178	G	A	107955178	3	1	229	1	0	0	0	0	1	0	0	0	15000	1203	42	4	1152	4	SOBP	6	107955178	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	11304098	107955178	63159889	48	41773											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111912597	111912597	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagggaactccctggacctGagaggtctggggaggtcctg	7	8	17	9	0	1	2	0	2	1	1	3	6	3	5	3	6	1	0	3	6	1	0			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:111912597G>A	ENST00000368761.5	-	2	1171	c.693C>T	c.(691-693)ctC>ctT	p.L231L	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Silent_p.L240L|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Silent_p.L231L	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	240					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CCCTGGACCTGAGAGGTCTGG	0.572													62	99					0	0	0	0	A	111912597	G	A	111912597	2	1	229	1	0	0	0	0	0	0	0	1	16536	1277	45	2		2	TRAF3IP2	6	111912597	Silent	SNP	G	TCGA-CV-5436-01A-01D-1512-08	3957419	111912597	59202470	49	41774											
UTRN	7402	broad.mit.edu	37	chr6	144779962	144779962	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtttcatcagaatggAagaatgtatctcaacatttg	15	12	9	5	0	3	3	3	0	1	3	4	4	3	4	0	2	1	2	0	2	6	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:144779962A>C	ENST00000367545.3	+	19	2341	c.2341A>C	c.(2341-2343)Aag>Cag	p.K781Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	781	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATCAGAATGGAAGAATGTATC	0.338													36	103					0	0	0	0	C	144779962	A	C	144779962	3	2	229	1	0	0	0	0	1	0	0	0	17199	247	9	5	2415	5	UTRN	6	144779962	Missense_Mutation	SNP	A	TCGA-CV-5436-01A-01D-1512-08	32867365	144779962	26335105	50	41775											
AKAP12	9590	broad.mit.edu	37	chr6	151672560	151672560	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcccagttaaccgacTccccagacaccacagaggag	12	5	8	16	1	1	2	0	0	1	2	3	4	2	3	5	1	1	1	5	1	1	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:151672560T>C	ENST00000402676.2	+	4	3274	c.3034T>C	c.(3034-3036)Tcc>Ccc	p.S1012P	AKAP12_ENST00000354675.6_Missense_Mutation_p.S914P|AKAP12_ENST00000359755.5_Missense_Mutation_p.S907P|AKAP12_ENST00000253332.1_Missense_Mutation_p.S1012P	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1012					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTTAACCGACTCCCCAGACAC	0.577													3	77					0	0	0	0	C	151672560	T	C	151672560	3	2	229	1	0	0	0	0	1	0	0	0	448	1551	54	5	3073	5	AKAP12	6	151672560	Missense_Mutation	SNP	T	TCGA-CV-5436-01A-01D-1512-08	6892598	151672560	19442507	51	41776											
EIF2AK1	27102	broad.mit.edu	37	chr7	6077129	6077129	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattcttgaaaaatttttgTtgcaacattggccataacat	14	15	5	7	0	1	1	0	1	1	0	1	1	1	1	1	1	3	2	1	1	5	7			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:6077129T>C	ENST00000199389.6	-	11	1404	c.1258A>G	c.(1258-1260)Aca>Gca	p.T420A	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.T296A	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	420	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AAAATTTTTGTTGCAACATTG	0.323													58	173					0	0	0	0	C	6077129	T	C	6077129	3	2	229	1	0	0	0	0	1	0	0	0	5032	1725	60	5	654	5	EIF2AK1	7	6077129	Missense_Mutation	SNP	T	TCGA-CV-5436-01A-01D-1512-08		6077129	153061534	52	41777											
TBX20	57057	broad.mit.edu	37	chr7	35242348	35242348	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagatgatacccaggagctGagagacaaattatcagatgt	16	8	11	6	0	1	5	1	2	0	3	1	8	1	6	1	1	2	1	1	1	4	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:35242348G>C	ENST00000408931.3	-	8	1564	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	346						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CCCAGGAGCTGAGAGACAAAT	0.438													3	18					0	0	0	0	C	35242348	G	C	35242348	2	2	229	1	0	0	0	0	0	0	0	1	15750	1277	45	2		2	TBX20	7	35242348	Silent	SNP	G	TCGA-CV-5436-01A-01D-1512-08	29165219	35242348	123896315	53	41778											
AMPH	273	broad.mit.edu	37	chr7	38431514	38431514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggcccggaggagccgcGtcctcggtggtctccttggg	2	8	19	12	4	1	0	0	0	1	0	4	2	2	2	4	7	1	0	4	7	0	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:38431514G>A	ENST00000356264.2	-	19	1928	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D	AMPH_ENST00000428293.2_Silent_p.D529D|AMPH_ENST00000325590.5_Silent_p.D529D	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	571					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GAGGAGCCGCGTCCTCGGTGG	0.607													19	96					0	0	0	0	A	38431514	G	A	38431514	2	1	229	1	0	0	0	0	0	0	0	1	588	1136	40	1		1	AMPH	7	38431514	Silent	SNP	G	TCGA-CV-5436-01A-01D-1512-08	3189166	38431514	120707149	54	41779											
ZNF679	168417	broad.mit.edu	37	chr7	63726517	63726517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagtcttcggcaaattttCaaattccaatagacataaga	17	11	5	8	1	2	2	1	0	1	2	4	2	3	2	1	1	0	1	1	1	6	6			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:63726517C>T	ENST00000421025.1	+	5	775	c.506C>T	c.(505-507)tCa>tTa	p.S169L	ZNF679_ENST00000255746.4_Missense_Mutation_p.S169L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GGCAAATTTTCAAATTCCAAT	0.313													14	25					0	0	0	0	T	63726517	C	T	63726517	3	4	229	1	0	0	0	0	1	0	0	0	18181	838	29	2	520	2	ZNF679	7	63726517	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	25295003	63726517	95412146	55	41780											
STX1A	6804	broad.mit.edu	37	chr7	73118115	73118115	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatggcggggttcccactCtccagcatgtcctccagctc	7	9	10	15	1	1	1	0	0	1	1	6	1	4	1	4	3	2	3	4	3	1	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:73118115C>G	ENST00000222812.3	-	7	536	c.510G>C	c.(508-510)gaG>gaC	p.E170D	STX1A_ENST00000395156.3_Missense_Mutation_p.E170D|STX1A_ENST00000395155.3_Missense_Mutation_p.E170D|STX1A_ENST00000395154.3_Missense_Mutation_p.E170D|WBSCR22_ENST00000423166.2_3'UTR	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	170					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGTTCCCACTCTCCAGCATGT	0.637													50	84					0	0	0	0	G	73118115	C	G	73118115	3	3	229	1	0	0	0	0	1	0	0	0	15433	912	32	2	372	2	STX1A	7	73118115	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	9391598	73118115	86020548	56	41781											
PON3	5446	broad.mit.edu	37	chr7	95019514	95019514	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatatcaatatcttcagaGccactttctgcaaaagaagg	15	11	7	8	0	4	2	2	0	2	2	4	2	4	2	1	1	2	2	1	1	7	5			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:95019514G>C	ENST00000265627.5	-	3	163	c.153C>G	c.(151-153)ggC>ggG	p.G51G	PON3_ENST00000427422.1_Silent_p.G51G|PON1_ENST00000542556.1_Intron|PON3_ENST00000475439.1_5'UTR	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TATCTTCAGAGCCACTTTCTG	0.378													101	225					0	0	0	0	C	95019514	G	C	95019514	2	2	229	1	0	0	0	0	0	0	0	1	12322	958	34	4		4	PON3	7	95019514	Silent	SNP	G	TCGA-CV-5436-01A-01D-1512-08	21901399	95019514	64119149	57	41782											
DNAJC2	27000	broad.mit.edu	37	chr7	102982244	102982244	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaagtgttttcagcatGggaaactcttccaactgcaa	12	11	9	9	0	3	0	2	0	1	0	4	2	4	2	1	2	4	3	1	2	4	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:102982244G>A	ENST00000412522.1	-	2	429	c.222C>T	c.(220-222)ccC>ccT	p.P74P	DNAJC2_ENST00000249270.7_Silent_p.P74P|DNAJC2_ENST00000379263.3_Silent_p.P74P			Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	74					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTTCAGCATGGGAAACTCTT	0.373													57	115					0	0	0	0	A	102982244	G	A	102982244	2	1	229	1	0	0	0	0	0	0	0	1	4675	1335	47	4		4	DNAJC2	7	102982244	Silent	SNP	G	TCGA-CV-5436-01A-01D-1512-08	7962730	102982244	56156419	58	41783											
MSR1	4481	broad.mit.edu	37	chr8	16032716	16032716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccactattccaatgagaGggatgagaactgcaaacacg	14	7	10	10	1	0	2	0	2	0	2	1	5	1	3	2	1	4	1	2	1	4	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:16032716G>T	ENST00000350896.3	-	3	394	c.197C>A	c.(196-198)cCt>cAt	p.P66H	MSR1_ENST00000381998.4_Missense_Mutation_p.P66H|MSR1_ENST00000262101.5_Missense_Mutation_p.P66H|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.P84H|MSR1_ENST00000355282.2_Missense_Mutation_p.P66H	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	66					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCAATGAGAGGGATGAGAAC	0.413													25	61					4.26978e-12	4.71923e-12	1	0	T	16032716	G	T	16032716	3	4	229	1	0	0	0	0	1	0	0	0	9956	1000	35	4	1238	4	MSR1	8	16032716	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08		16032716	130331306	59	41784											
PRKDC	5591	broad.mit.edu	37	chr8	48845609	48845609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacagtctgtatttcaaGtgtaagatccaatttctcaa	13	13	5	10	0	3	1	2	0	2	1	5	1	4	1	2	0	1	2	2	0	6	4			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:48845609G>C	ENST00000314191.2	-	16	1803	c.1747C>G	c.(1747-1749)Ctt>Gtt	p.L583V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L583V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	583					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTATTTCAAGTGTAAGATCC	0.299								Non-homologous end-joining					8	28					0	0	0	0	C	48845609	G	C	48845609	3	2	229	1	0	0	0	0	1	0	0	0	12601	1029	36	4	10922	4	PRKDC	8	48845609	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	32812893	48845609	97518413	60	41785											
RP1	6101	broad.mit.edu	37	chr8	55537622	55537622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctgcagatgtgtcacctAtggagcgaagcagtaatcaa	12	10	10	9	1	3	1	2	0	1	1	4	3	3	2	1	1	3	3	1	1	4	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:55537622A>G	ENST00000220676.1	+	4	1328	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	394					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTGTCACCTATGGAGCGAAG	0.423													29	105					0	0	0	0	G	55537622	A	G	55537622	3	3	229	1	0	0	0	0	1	0	0	0	13617	449	16	5	1190	5	RP1	8	55537622	Missense_Mutation	SNP	A	TCGA-CV-5436-01A-01D-1512-08	6692013	55537622	90826400	61	41786											
RSPO2	340419	broad.mit.edu	37	chr8	108972911	108972911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaactactcacccacacattCcatggtttcttctaatggtg	11	13	5	12	0	3	0	1	0	2	0	4	0	4	0	2	2	2	1	2	2	3	5			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:108972911C>T	ENST00000276659.5	-	4	1038	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	RSPO2_ENST00000517939.1_Missense_Mutation_p.E73K|RSPO2_ENST00000517781.1_Missense_Mutation_p.E77K|RSPO2_ENST00000378439.2_Missense_Mutation_p.E77K	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	140					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCCACACATTCCATGGTTTCT	0.348													22	149					0	0	0	0	T	108972911	C	T	108972911	3	4	229	1	0	0	0	0	1	0	0	0	13795	864	30	2	325	2	RSPO2	8	108972911	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	53435289	108972911	37391111	62	41787											
COL22A1	169044	broad.mit.edu	37	chr8	139606419	139606419	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtacgccgggggcatctGggccaggaggtaggcgagtc	7	6	18	10	3	1	0	0	0	1	0	2	2	1	1	2	6	1	3	2	6	2	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:139606419G>A	ENST00000303045.6	-	63	4902	c.4456C>T	c.(4456-4458)Cag>Tag	p.Q1486*	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Nonsense_Mutation_p.Q1466*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1486	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGGCATCTGGGCCAGGAGG	0.582										HNSCC(7;0.00092)			101	78					0	0	0	0	A	139606419	G	A	139606419	4	1	229	1	0	0	0	0	0	1	0	0	3711	1357	47	4	436	4	COL22A1	8	139606419	Nonsense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	30633508	139606419	6757603	63	41788											
PHF2	5253	broad.mit.edu	37	chr9	96437264	96437264	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctttaagtcccggtcgaaGaaaaggaaaggctcagacga	15	7	11	8	3	2	2	1	0	1	2	4	5	3	3	1	3	0	1	1	3	5	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:96437264G>C	ENST00000359246.4	+	19	3049	c.2682G>C	c.(2680-2682)aaG>aaC	p.K894N	PHF2_ENST00000375376.4_Missense_Mutation_p.K125N	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	894					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCCGGTCGAAGAAAAGGAAAG	0.582													17	94					0	0	0	0	C	96437264	G	C	96437264	3	2	229	1	0	0	0	0	1	0	0	0	11902	933	33	2	2756	2	PHF2	9	96437264	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08		96437264	44776167	64	41789											
FPGS	2356	broad.mit.edu	37	chr9	130570884	130570885	+	Frame_Shift_Ins	INS	-	-	C																															aggccctcgaggaaggggggINSccgccgctgaccctgggcct																										TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:130570884_130570885insC	ENST00000373225.3	+	10	929_930	c.720_721insC	c.(718-723)ggcgccfs	p.A241fs	FPGS_ENST00000373245.1_Intron|FPGS_ENST00000373247.2_Frame_Shift_Ins_p.A291fs|FPGS_ENST00000393706.2_Frame_Shift_Ins_p.A265fs|FPGS_ENST00000460181.1_3'UTR	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	291					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)	AGGAAGGGGGGCCGCCGCTGAC	0.698													14	41	---	---	---	---					C	130570885	-	C	130570884	7	5	229	1	0	1	1	0	0	0	0	0	6083	1190	42	0	908	0	FPGS	9	130570884	Frame_Shift_Ins	INS	-	TCGA-CV-5436-01A-01D-1512-08	34133620	130570884	10642547	65	41790											
IER5L	389792	broad.mit.edu	37	chr9	131939365	131939365	+	Frame_Shift_Del	DEL	C	C	-																															ggcgcccccggggggctcggCccccagcccgcccgcatcct																										TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:131939365delC	ENST00000372491.2	-	1	1175	c.967delG	c.(967-969)ccfs	p.A323fs	RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	323													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		gggggctcggcccccagcccg	0.721													16	15	---	---	---	---					-	131939365	C	-	131939365	7	5	229	1	0	1	0	1	0	0	0	0	7562	739	26	0	251	0	IER5L	9	131939365	Frame_Shift_Del	DEL	C	TCGA-CV-5436-01A-01D-1512-08	1368481	131939365	9274066	66	41791											
NOTCH1	4851	broad.mit.edu	37	chr9	139412212	139412212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggccgacgcaccgggcatgCagatgcactggaactcccca	9	4	12	16	4	0	1	0	0	0	1	1	3	1	2	4	3	3	4	4	3	1	0			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:139412212C>T	ENST00000277541.6	-	8	1508	c.1433G>A	c.(1432-1434)tGc>tAc	p.C478Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	478	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.C478F(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCGGGCATGCAGATGCACTG	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			104	29					0	0	0	0	T	139412212	C	T	139412212	3	4	229	1	0	0	0	0	1	0	0	0	10617	710	25	4	6342	4	NOTCH1	9	139412212	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	7472847	139412212	1801219	67	41792											
ABCA2	20	broad.mit.edu	37	chr9	139905642	139905642	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacgggccccctcaccaatCttggcgtagtactcgttgat	7	10	9	15	3	2	1	1	1	1	0	3	1	2	1	4	2	1	3	4	2	3	4			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:139905642C>T	ENST00000265662.5	-	38	6066	c.5919G>A	c.(5917-5919)aaG>aaA	p.K1973K	ABCA2_ENST00000371605.3_Silent_p.K1972K|ABCA2_ENST00000341511.6_Silent_p.K1973K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1972					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTCACCAATCTTGGCGTAGT	0.607													34	119					0	0	0	0	T	139905642	C	T	139905642	2	4	229	1	0	0	0	0	0	0	0	1	32	912	32	2		2	ABCA2	9	139905642	Silent	SNP	C	TCGA-CV-5436-01A-01D-1512-08	493430	139905642	1307789	68	41793											
DIP2C	22982	broad.mit.edu	37	chr10	468941	468941	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgggagtccccctgcaCtgagccttcatcttctgagc	5	10	10	16	0	3	2	1	2	2	0	4	3	4	3	4	1	3	1	4	1	0	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:468941C>A	ENST00000280886.6	-	5	514	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	DIP2C_ENST00000381496.3_Missense_Mutation_p.V36L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	143						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCCCCCTGCACTGAGCCTTCA	0.562													58	128					7.10663e-31	8.23389e-31	1	0	A	468941	C	A	468941	3	1	229	1	0	0	0	0	1	0	0	0	4566	565	20	4	4375	4	DIP2C	10	468941	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08		468941	135065806	69	41794											
CACNB2	783	broad.mit.edu	37	chr10	18629869	18629869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctagcatgcttgacagacGccttatagctcctcaaacta	11	11	7	12	1	2	2	1	1	1	1	3	2	3	2	2	0	4	3	2	0	5	5			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:18629869G>A	ENST00000377329.4	+	1	204	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000324631.7_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000377328.1_Intron	NM_201590.2	NP_963884.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	0					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTTGACAGACGCCTTATAGCT	0.478													48	120					0	0	0	0	A	18629869	G	A	18629869	3	1	229	1	0	0	0	0	1	0	0	0	2578	1087	38	1	329	1	CACNB2	10	18629869	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	18160928	18629869	116904878	70	41795											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508487	37508487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatacattggtttcagaaCatgcacaaagagaccaacgt	18	8	7	8	1	1	2	1	0	0	2	1	3	1	2	1	1	4	2	1	1	6	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:37508487C>T	ENST00000374660.1	+	40	4135	c.4036C>T	c.(4036-4038)Cat>Tat	p.H1346Y	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1227Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1227Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1283						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.H1227D(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGTTTCAGAACATGCACAAAG	0.373													19	51					0	0	0	0	T	37508487	C	T	37508487	3	4	229	1	0	0	0	0	1	0	0	0	658	478	17	4	3813	4	ANKRD30A	10	37508487	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	18878618	37508487	98026260	71	41796											
FRA10AC1	118924	broad.mit.edu	37	chr10	95436422	95436422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacttactaagtagagaatCttcagatttctttgaagatg	13	16	7	5	0	3	4	1	1	2	3	3	5	3	4	0	0	2	1	0	0	6	7			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:95436422C>T	ENST00000359204.4	-	12	1011	c.814G>A	c.(814-816)Gat>Aat	p.D272N	FRA10AC1_ENST00000371430.2_Missense_Mutation_p.D272N|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.D272N|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.D272N	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	272						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						AGTAGAGAATCTTCAGATTTC	0.294													14	21					0	0	0	0	T	95436422	C	T	95436422	3	4	229	1	0	0	0	0	1	0	0	0	6088	913	32	2	145	2	FRA10AC1	10	95436422	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	57927935	95436422	40098325	72	41797											
SORBS1	10580	broad.mit.edu	37	chr10	97174295	97174295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggctccgagactctgcGgaggtcctccggggcaggag	6	6	17	12	3	2	1	1	0	1	1	5	4	5	3	3	6	1	2	3	6	0	0			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:97174295G>A	ENST00000371247.2	-	9	955	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371249.2_Missense_Mutation_p.R224C|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.R247C|SORBS1_ENST00000371245.3_Missense_Mutation_p.R187C|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.R256C|SORBS1_ENST00000277982.5_Missense_Mutation_p.R256C|SORBS1_ENST00000353505.5_Missense_Mutation_p.R187C|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000354106.3_Missense_Mutation_p.R247C|SORBS1_ENST00000361941.3_Missense_Mutation_p.R256C|SORBS1_ENST00000371227.4_Missense_Mutation_p.R256C			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	256					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGACTCTGCGGAGGTCCTCC	0.637													24	58					0	0	0	0	A	97174295	G	A	97174295	3	1	229	1	0	0	0	0	1	0	0	0	15015	1116	39	1	3409	1	SORBS1	10	97174295	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	1737873	97174295	38360452	73	41798											
UBQLN3	50613	broad.mit.edu	37	chr11	5529987	5529987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaactgctcctggactgCgttaagcattgggtccataa	10	10	10	11	1	0	0	0	0	0	0	2	1	2	1	3	2	4	3	3	2	3	3	rs144033515	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:5529987C>T	ENST00000311659.4	-	2	949	c.802G>A	c.(802-804)Gca>Aca	p.A268T	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	268										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGACTGCGTTAAGCATT	0.517													70	136					0	0	0	0	T	5529987	C	T	5529987	3	4	229	1	0	0	0	0	1	0	0	0	16994	768	27	1	1169	1	UBQLN3	11	5529987	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08		5529987	129476529	74	41799											
BTBD10	84280	broad.mit.edu	37	chr11	13438772	13438772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actctcctttctcattgggtCgtgtaaagttatgttctcgg	6	17	9	9	2	3	0	1	0	3	0	7	0	3	0	1	2	0	3	1	2	3	5			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:13438772C>T	ENST00000278174.5	-	5	865	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	BTBD10_ENST00000530907.1_Missense_Mutation_p.R215Q|BTBD10_ENST00000528120.1_Missense_Mutation_p.R159Q	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	207	BTB.					nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CTCATTGGGTCGTGTAAAGTT	0.378													81	155					0	0	0	0	T	13438772	C	T	13438772	3	4	229	1	0	0	0	0	1	0	0	0	1546	884	31	1	827	1	BTBD10	11	13438772	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	7908785	13438772	121567744	75	41800											
CYP2R1	120227	broad.mit.edu	37	chr11	14901976	14901976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccaaaaggcaggatgcCaatccatggaaaggcattat	14	10	9	8	0	0	0	0	0	0	0	2	2	2	2	3	4	1	2	3	4	5	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:14901976C>T	ENST00000334636.5	-	3	752	c.706G>A	c.(706-708)Ggc>Agc	p.G236S	CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	236					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GGCAGGATGCCAATCCATGGA	0.398													31	83					0	0	0	0	T	14901976	C	T	14901976	3	4	229	1	0	0	0	0	1	0	0	0	4205	594	21	4	811	4	CYP2R1	11	14901976	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	1463204	14901976	120104540	76	41801											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636375	18636376	+	Frame_Shift_Ins	INS	-	-	A																															cagaccgccccggggggcccINSaagccactcactggtcgtcg																										TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:18636375_18636376insA	ENST00000336349.5	-	3	1680_1681	c.1445_1446insT	c.(1444-1446)tggfs	p.W482fs		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	482	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CCGGGGGGCCCAAGCCACTCAC	0.589													16	102	---	---	---	---					A	18636376	-	A	18636375	7	5	229	1	0	1	1	0	0	0	0	0	15216	593	21	0	627	0	SPTY2D1	11	18636375	Frame_Shift_Ins	INS	-	TCGA-CV-5436-01A-01D-1512-08	3734399	18636375	116370141	77	41802											
OR5L1	219437	broad.mit.edu	37	chr11	55579760	55579760	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggagatgctgacaaagTggccaccgtgttctacacag	11	9	12	9	1	1	2	0	1	1	1	1	3	1	2	2	2	2	2	2	2	3	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:55579760T>G	ENST00000333973.2	+	1	907	c.818T>G	c.(817-819)gTg>gGg	p.V273G		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCTGACAAAGTGGCCACCGTG	0.473													33	70					0	0	0	0	G	55579760	T	G	55579760	3	3	229	1	0	0	0	0	1	0	0	0	11241	1696	59	5	820	5	OR5L1	11	55579760	Missense_Mutation	SNP	T	TCGA-CV-5436-01A-01D-1512-08	36943385	55579760	79426756	78	41803											
SCYL1	57410	broad.mit.edu	37	chr11	65304218	65304218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccccaaagacccacgcctGaaggtgagtgtcctggccta	9	8	10	14	1	0	3	0	2	0	1	2	3	2	3	6	2	0	0	6	2	3	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:65304218G>A	ENST00000524944.1	+	13	1846	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	SCYL1_ENST00000533862.1_Missense_Mutation_p.E605K|SCYL1_ENST00000527630.1_Missense_Mutation_p.E605K|SCYL1_ENST00000527009.1_Missense_Mutation_p.E462K|SCYL1_ENST00000420247.2_Missense_Mutation_p.E605K|SCYL1_ENST00000270176.5_Missense_Mutation_p.E605K|SCYL1_ENST00000279270.6_Missense_Mutation_p.E605K|SCYL1_ENST00000525364.1_Missense_Mutation_p.E605K			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	605	Pro-rich.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						ACCCACGCCTGAAGGTGAGTG	0.607													49	125					0	0	0	0	A	65304218	G	A	65304218	3	1	229	1	0	0	0	0	1	0	0	0	14034	1291	45	2	1863	2	SCYL1	11	65304218	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	9724458	65304218	69702298	79	41804											
MTMR2	8898	broad.mit.edu	37	chr11	95591793	95591793	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaaatcgtaaattcctaaTatcctagaaaagatttagga	18	11	6	6	1	0	2	0	0	0	2	3	3	2	3	2	1	1	2	2	1	9	7			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:95591793T>C	ENST00000393223.3	-	8	918	c.256A>G	c.(256-258)Att>Gtt	p.I86V	MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Missense_Mutation_p.I86V|MTMR2_ENST00000346299.5_Missense_Mutation_p.I158V|MTMR2_ENST00000409459.1_Missense_Mutation_p.I86V	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	158	GRAM.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAATTCCTAATATCCTAGAAA	0.313													61	106					0	0	0	0	C	95591793	T	C	95591793	3	2	229	1	0	0	0	0	1	0	0	0	10014	1406	49	5	1499	5	MTMR2	11	95591793	Missense_Mutation	SNP	T	TCGA-CV-5436-01A-01D-1512-08	30287575	95591793	39414723	80	41805											
MMP12	4321	broad.mit.edu	37	chr11	102742294	102742297	+	RNA	DEL	TTTG	TTTG	-																															ctttcctgtttgcttagtttTttgtttgtttgtttgtttgt																										TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:102742294_102742297delTTTG	ENST00000532855.1	-	0	722							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	tgcttagttttttgtttgtttgtt	0.377													3	4	---	---	---	---					-	102742297	TTTG	-	102742294	6	5	229	0	1	1	0	1	0	0	0	0	9720	1856	64	0		0	MMP12	11	102742294	RNA	DEL	TTTG	TCGA-CV-5436-01A-01D-1512-08	7150501	102742294	32264222	81	41806											
RPS25	6230	broad.mit.edu	37	chr11	118888677	118888677	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttatttctaccttctttttGgccttgcccccggatttgtt	3	20	6	12	1	2	0	0	0	2	0	2	1	2	1	4	2	2	1	4	2	2	9	rs3209457		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:118888677G>A	ENST00000527673.1	-	2	495	c.90C>T	c.(88-90)gcC>gcT	p.A30A	RPS25_ENST00000528547.1_5'UTR	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	30					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CCTTCTTTTTGGCCTTGCCCC	0.468													63	128					0	0	0	0	A	118888677	G	A	118888677	2	1	229	1	0	0	0	0	0	0	0	1	13721	1335	47	4		4	RPS25	11	118888677	Silent	SNP	G	TCGA-CV-5436-01A-01D-1512-08	16146383	118888677	16117839	82	41807											
WBP11	51729	broad.mit.edu	37	chr12	14946725	14946725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtgcacaaattcatcccCgtcactttctccatctgatt	9	13	5	14	2	4	1	2	1	2	0	6	1	5	1	3	1	1	1	3	1	1	3	rs150908147		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:14946725C>T	ENST00000261167.2	-	8	1086	c.853G>A	c.(853-855)Ggg>Agg	p.G285R	WBP11_ENST00000537574.1_Missense_Mutation_p.G285R	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	285	Asp-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	p.G285W(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AATTCATCCCCGTCACTTTCT	0.423													128	262					0	0	0	0	T	14946725	C	T	14946725	3	4	229	1	0	0	0	0	1	0	0	0	17354	652	23	1	1092	1	WBP11	12	14946725	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08		14946725	118905170	83	41808											
BICD1	636	broad.mit.edu	37	chr12	32480416	32480416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagagcgggaaaaggccattCttttggccaacctacaggag	12	8	12	9	1	1	1	0	0	1	1	1	3	1	3	3	4	3	0	3	4	5	5			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:32480416C>T	ENST00000548411.1	+	5	1208	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F	BICD1_ENST00000281474.5_Missense_Mutation_p.L343F	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	343					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AAAGGCCATTCTTTTGGCCAA	0.527													37	93					0	0	0	0	T	32480416	C	T	32480416	3	4	229	1	0	0	0	0	1	0	0	0	1433	913	32	2	1045	2	BICD1	12	32480416	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	17533691	32480416	101371479	84	41809											
DNAJC14	85406	broad.mit.edu	37	chr12	56222003	56222003	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagttgctagaagaaccaTttcctccctcagagtaaggc	14	9	8	10	0	1	3	1	0	0	3	3	3	3	3	3	1	2	3	3	1	6	4			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:56222003T>A	ENST00000357606.3	-	3	729	c.440A>T	c.(439-441)aAt>aTt	p.N147I	DNAJC14_ENST00000317287.5_Missense_Mutation_p.N147I|DNAJC14_ENST00000317269.3_Missense_Mutation_p.N147I			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	147					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGAAGAACCATTTCCTCCCTC	0.483													91	161					0	0	0	0	A	56222003	T	A	56222003	3	1	229	1	0	0	0	0	1	0	0	0	4669	1493	52	5	1692	5	DNAJC14	12	56222003	Missense_Mutation	SNP	T	TCGA-CV-5436-01A-01D-1512-08	23741587	56222003	77629892	85	41810											
PAN2	9924	broad.mit.edu	37	chr12	56712923	56712923	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcattcgttttcggggcaTatggaacaggtagacagtgt	11	12	12	6	2	1	1	1	0	0	1	3	2	1	2	0	4	1	3	0	4	4	5			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:56712923T>C	ENST00000425394.2	-	24	3701	c.3325A>G	c.(3325-3327)Atg>Gtg	p.M1109V	PAN2_ENST00000257931.5_Missense_Mutation_p.M1108V|PAN2_ENST00000440411.3_Missense_Mutation_p.M1105V|PAN2_ENST00000549090.1_Intron|PAN2_ENST00000548043.1_Missense_Mutation_p.M1109V	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1109	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTTCGGGGCATATGGAACAGG	0.498													24	55					0	0	0	0	C	56712923	T	C	56712923	3	2	229	1	0	0	0	0	1	0	0	0	11485	1406	49	5	295	5	PAN2	12	56712923	Missense_Mutation	SNP	T	TCGA-CV-5436-01A-01D-1512-08	490920	56712923	77138972	86	41811											
DCLK1	9201	broad.mit.edu	37	chr13	36700037	36700037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcaaaagatcggaaccGgtctggggagatggcataca	12	6	14	9	2	2	2	1	0	1	2	3	4	2	3	2	6	2	1	2	6	4	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:36700037G>A	ENST00000255448.4	-	2	449	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	DCLK1_ENST00000379892.4_Missense_Mutation_p.R80W|DCLK1_ENST00000360631.3_Missense_Mutation_p.R80W	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	80	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GATCGGAACCGGTCTGGGGAG	0.507													40	122					0	0	0	0	A	36700037	G	A	36700037	3	1	229	1	0	0	0	0	1	0	0	0	4323	1115	39	1	2019	1	DCLK1	13	36700037	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08		36700037	78469841	87	41812											
KCTD4	386618	broad.mit.edu	37	chr13	45768678	45768678	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatactccttttctttttCtcttctgtttattttacgct	4	25	2	10	1	4	0	1	0	3	0	6	0	5	0	1	0	2	2	1	0	3	11			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:45768678C>G	ENST00000405872.1	-	2	428	c.25G>C	c.(25-27)Gaa>Caa	p.E9Q	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000379108.1_Missense_Mutation_p.E9Q	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	9						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTTTCTTTTTCTCTTCTGTTT	0.388													93	160					0	0	0	0	G	45768678	C	G	45768678	3	3	229	1	0	0	0	0	1	0	0	0	8164	922	32	2	758	2	KCTD4	13	45768678	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	9068641	45768678	69401200	88	41813											
LCP1	3936	broad.mit.edu	37	chr13	46721156	46721156	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggttccctcggacaacaTctgtggctgtgacaaactgc	8	10	12	11	1	1	1	0	1	1	0	3	2	2	2	1	4	3	2	1	4	2	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:46721156T>A	ENST00000398576.2	-	13	1449	c.1061A>T	c.(1060-1062)gAt>gTt	p.D354V	LCP1_ENST00000323076.2_Missense_Mutation_p.D354V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	354	Actin-binding 1.|CH 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCGGACAACATCTGTGGCTGT	0.532			T	BCL6	NHL								25	59					0	0	0	0	A	46721156	T	A	46721156	3	1	229	1	0	0	0	0	1	0	0	0	8744	1435	50	5	850	5	LCP1	13	46721156	Missense_Mutation	SNP	T	TCGA-CV-5436-01A-01D-1512-08	952478	46721156	68448722	89	41814											
DCUN1D2	55208	broad.mit.edu	37	chr13	114112358	114112358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcctagaaaaggctgcGttttccacctgtgactactg	8	12	10	11	1	0	2	0	1	0	1	1	2	1	2	3	1	4	3	3	1	4	4			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:114112358G>A	ENST00000332592.3	-	5	401	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	DCUN1D2_ENST00000478244.1_Missense_Mutation_p.R256C			Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	256	DCUN1.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			AAAAGGCTGCGTTTTCCACCT	0.443											OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	446					0	0	0	0	A	114112358	G	A	114112358	3	1	229	1	0	0	0	0	1	0	0	0	4346	1145	40	1	17	1	DCUN1D2	13	114112358	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	67391202	114112358	1057520	90	41815											
PARP2	10038	broad.mit.edu	37	chr14	20825824	20825825	+	In_Frame_Ins	INS	-	-	GCG																															gtacagtgccattaggaccaINSgcaagtgacacaggaattct																										TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr14:20825824_20825825insGCG	ENST00000250416.5	+	16	1647_1648	c.1620_1621insGCG	c.(1618-1623)cccaag>ccGCGcaag	p.540_541PK>PRK	PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_In_Frame_Ins_p.527_528PK>PRK	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	540	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CATTAGGACCAGCAAGTGACAC	0.416								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					44	128	---	---	---	---					GCG	20825825	-	GCG	20825824	7	5	229	1	0	1	1	0	0	0	0	0	11532	175	7	0	1682	0	PARP2	14	20825824	In_Frame_Ins	INS	-	TCGA-CV-5436-01A-01D-1512-08		20825824	86523716	91	41816											
MRPL52	122704	broad.mit.edu	37	chr14	23299408	23299409	+	Frame_Shift_Ins	INS	-	-	G																															cacacaggcagggactggctINSgccaacccctccggctacgg																										TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr14:23299408_23299409insG	ENST00000355151.5	+	3	132_133	c.102_103insG	c.(100-105)gcccaafs	p.Q35fs	MRPL52_ENST00000432849.3_Frame_Shift_Ins_p.Q34fs|MRPL52_ENST00000557221.1_5'UTR|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000397505.2_Frame_Shift_Ins_p.Q35fs|MRPL52_ENST00000397496.3_Frame_Shift_Ins_p.Q34fs|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000461594.1_3'UTR	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	35					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		AGGGACTGGCTGCCAACCCCTC	0.594													7	183	---	---	---	---					G	23299409	-	G	23299408	7	5	229	1	0	1	1	0	0	0	0	0	9886	1567	55	0	112	0	MRPL52	14	23299408	Frame_Shift_Ins	INS	-	TCGA-CV-5436-01A-01D-1512-08	2473584	23299408	84050132	92	41817											
JPH4	84502	broad.mit.edu	37	chr14	24045205	24045205	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccactcgcccgcgtacacCtctgtggccgagccctcgat	5	7	10	19	6	1	0	0	0	1	0	3	2	1	0	5	1	2	1	5	1	1	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr14:24045205C>G	ENST00000397118.3	-	4	1742	c.840G>C	c.(838-840)gaG>gaC	p.E280D	JPH4_ENST00000356300.4_Missense_Mutation_p.E280D	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	280					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCGCGTACACCTCTGTGGCCG	0.766													3	8					0	0	0	0	G	24045205	C	G	24045205	3	3	229	1	0	0	0	0	1	0	0	0	8016	680	24	4	1062	4	JPH4	14	24045205	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	745797	24045205	83304335	93	41818											
CDAN1	146059	broad.mit.edu	37	chr15	43027800	43027800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggttcatctgtgaggcttCctgtccggctggggaggggc	4	10	17	10	1	2	1	1	1	1	0	4	2	4	2	2	7	0	3	2	7	0	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:43027800C>T	ENST00000356231.3	-	4	874	c.851G>A	c.(850-852)gGa>gAa	p.G284E		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	284						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TGTGAGGCTTCCTGTCCGGCT	0.572													62	30					0	0	0	0	T	43027800	C	T	43027800	3	4	229	1	0	0	0	0	1	0	0	0	3083	855	30	2	2932	2	CDAN1	15	43027800	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08		43027800	59503592	94	41819											
WDR76	79968	broad.mit.edu	37	chr15	44143363	44143363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtctttacttctcacccGccaatccggcccacatactg	7	11	6	17	2	2	0	1	0	2	0	4	0	3	0	4	1	2	1	4	1	3	4			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:44143363G>A	ENST00000263795.6	+	9	1181	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T	WDR76_ENST00000381246.2_Missense_Mutation_p.A307T	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	371										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CTTCTCACCCGCCAATCCGGC	0.458													9	193					0	0	0	0	A	44143363	G	A	44143363	3	1	229	1	0	0	0	0	1	0	0	0	17422	1087	38	1	1145	1	WDR76	15	44143363	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	1115563	44143363	58388029	95	41820											
CEP152	22995	broad.mit.edu	37	chr15	49059304	49059304	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtggtcttcctgagagtcaAttctagattatccttctctc	8	16	7	10	0	4	2	1	1	3	2	8	3	6	2	2	1	0	0	2	1	3	5			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:49059304A>G	ENST00000380950.2	-	17	2420	c.2233T>C	c.(2233-2235)Ttg>Ctg	p.L745L	CEP152_ENST00000399334.3_Silent_p.L745L|CEP152_ENST00000325747.5_Silent_p.L652L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	745					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGAGAGTCAATTCTAGATTA	0.423													178	103					0	0	0	0	G	49059304	A	G	49059304	2	3	229	1	0	0	0	0	0	0	0	1	3277	98	4	5		5	CEP152	15	49059304	Silent	SNP	A	TCGA-CV-5436-01A-01D-1512-08	4915941	49059304	53472088	96	41821											
SLC9A3R2	9351	broad.mit.edu	37	chr16	2086358	2086358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgagggagctgcgccctCggctctgccacctgcgaaag	6	6	13	16	3	1	1	0	1	1	0	2	3	1	2	4	2	4	2	4	2	1	0			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:2086358C>T	ENST00000424542.2	+	3	586	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R44W|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R150W|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R39W|SLC9A3R2_ENST00000565086.1_3'UTR	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	150	PDZ 2.				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GCTGCGCCCTCGGCTCTGCCA	0.667													10	11					0	0	0	0	T	2086358	C	T	2086358	3	4	229	1	0	0	0	0	1	0	0	0	14803	875	31	1	458	1	SLC9A3R2	16	2086358	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08		2086358	88268395	97	41822											
ITGAX	3687	broad.mit.edu	37	chr16	31391868	31391868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaagaaggtgtcggtcGtgagtgtggctgaaattacg	10	10	16	5	3	0	4	0	2	0	2	2	4	0	4	0	3	2	2	0	3	4	1	rs143612140		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:31391868G>T	ENST00000268296.4	+	28	3320	c.3199G>T	c.(3199-3201)Gtg>Ttg	p.V1067L	ITGAX_ENST00000562522.1_Missense_Mutation_p.V1067L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1067					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGTGTCGGTCGTGAGTGTGGC	0.562													21	23					1.87028e-06	1.97615e-06	1	0	T	31391868	G	T	31391868	3	4	229	1	0	0	0	0	1	0	0	0	7942	1145	40	3	3309	3	ITGAX	16	31391868	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	29305510	31391868	58962885	98	41823											
IRX5	10265	broad.mit.edu	37	chr16	54967589	54967589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacgaactatggctccttcgGacaccttcatggccacccgg	8	8	9	16	3	1	0	1	0	0	0	3	2	2	1	4	4	1	1	4	4	2	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:54967589G>A	ENST00000394636.4	+	3	1593	c.1256G>A	c.(1255-1257)gGa>gAa	p.G419E	IRX5_ENST00000560154.1_Missense_Mutation_p.G199E|IRX5_ENST00000558597.1_Missense_Mutation_p.G353E|IRX5_ENST00000320990.5_Missense_Mutation_p.G418E			P78411	IRX5_HUMAN	iroquois homeobox 5	419					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGCTCCTTCGGACACCTTCAT	0.637													20	79					0	0	0	0	A	54967589	G	A	54967589	3	1	229	1	0	0	0	0	1	0	0	0	7900	1174	41	2	1266	2	IRX5	16	54967589	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	23575721	54967589	35387164	99	41824											
CNOT1	23019	broad.mit.edu	37	chr16	58557303	58557303	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttcttggatggcttccgtAttggcctctgcaaaaaggta	8	14	11	8	1	2	0	0	0	2	0	3	1	3	1	2	4	1	5	2	4	4	6			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:58557303A>T	ENST00000317147.5	-	47	7220	c.6888T>A	c.(6886-6888)aaT>aaA	p.N2296K	CNOT1_ENST00000245138.4_Missense_Mutation_p.N1147K|CNOT1_ENST00000569240.1_Missense_Mutation_p.N2291K	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2296					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGGCTTCCGTATTGGCCTCTG	0.413													35	164					0	0	0	0	T	58557303	A	T	58557303	3	4	229	1	0	0	0	0	1	0	0	0	3647	446	16	5	254	5	CNOT1	16	58557303	Missense_Mutation	SNP	A	TCGA-CV-5436-01A-01D-1512-08	3589714	58557303	31797450	100	41825											
CDH1	999	broad.mit.edu	37	chr16	68849489	68849489	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtggtaccttttgaggtCtctctcaccacctccacagc	8	12	7	14	0	2	1	1	1	2	0	5	1	3	1	4	2	2	1	4	2	2	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:68849489C>T	ENST00000261769.5	+	10	1583	c.1392C>T	c.(1390-1392)gtC>gtT	p.V464V	CDH1_ENST00000422392.2_Silent_p.V403V|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	464	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTTTTGAGGTCTCTCTCACCA	0.498			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				69	66					0	0	0	0	T	68849489	C	T	68849489	2	4	229	1	0	0	0	0	0	0	0	1	3124	900	32	2		2	CDH1	16	68849489	Silent	SNP	C	TCGA-CV-5436-01A-01D-1512-08	10292186	68849489	21505264	101	41826											
OR3A1	4994	broad.mit.edu	37	chr17	3195526	3195526	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcataggccatggcggtcagCaggaagcagtccactccaac	11	6	11	13	1	2	0	2	0	0	0	4	1	4	1	3	4	3	2	3	4	3	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:3195526C>T	ENST00000323404.1	-	1	350	c.351G>A	c.(349-351)ctG>ctA	p.L117L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGGCGGTCAGCAGGAAGCAGT	0.597													40	92					0	0	0	0	T	3195526	C	T	3195526	2	4	229	1	0	0	0	0	0	0	0	1	11108	697	25	4		4	OR3A1	17	3195526	Silent	SNP	C	TCGA-CV-5436-01A-01D-1512-08		3195526	77999684	102	41827											
TP53	7157	broad.mit.edu	37	chr17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcacctcaaagctgttccgtCccagtagattaccactactc	10	10	6	15	1	1	1	1	0	0	1	4	1	3	1	4	0	3	4	4	0	4	4			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:7577141C>T	ENST00000420246.2	-	8	929	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCTGTTCCGTCCCAGTAGATT	0.517		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	38					0	0	0	0	T	7577141	C	T	7577141	3	4	229	1	0	0	0	0	1	0	0	0	16476	855	30	2	489	2	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	4381615	7577141	73618069	103	41828											
TP53	7157	broad.mit.edu	37	chr17	7579521	7579521	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctggacctgggtcttCagtgaaccattgttcaatat	9	15	8	9	0	5	1	3	1	2	0	5	2	5	2	2	2	1	1	2	2	3	5			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:7579521C>A	ENST00000420246.2	-	4	298	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E56*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	56	Interaction with HRMT1L2.		E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTGGGTCTTCAGTGAACCAT	0.597		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			85	197					9.01214e-43	1.05142e-42	1	0	A	7579521	C	A	7579521	4	1	229	1	0	0	0	0	0	1	0	0	16476	835	29	2	1136	2	TP53	17	7579521	Nonsense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	2380	7579521	73615689	104	41829											
MYL4	4635	broad.mit.edu	37	chr17	45291173	45291173	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctccctacagatagacttCactgccgaccagattgaagg	11	8	8	14	1	1	4	1	1	0	3	2	5	2	4	4	1	2	0	4	1	3	4			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:45291173C>T	ENST00000354968.1	+	3	272	c.144C>T	c.(142-144)ttC>ttT	p.F48F	MYL4_ENST00000393450.1_Silent_p.F48F|MYL4_ENST00000572316.1_Silent_p.F48F	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	48					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						AGATAGACTTCACTGCCGACC	0.507													84	150					0	0	0	0	T	45291173	C	T	45291173	2	4	229	1	0	0	0	0	0	0	0	1	10119	825	29	2		2	MYL4	17	45291173	Silent	SNP	C	TCGA-CV-5436-01A-01D-1512-08	37711652	45291173	35904037	105	41830											
DNAH17	8632	broad.mit.edu	37	chr17	76464798	76464798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggtcgcatggaggagatGatgttctccacctcgtcctc	6	11	13	11	2	1	2	0	1	1	1	6	4	2	3	3	4	0	2	3	4	0	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:76464798G>A	ENST00000389840.5	-	55	8761	c.8637C>T	c.(8635-8637)atC>atT	p.I2879I	DNAH17_ENST00000585328.1_Silent_p.I2888I|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGAGGAGATGATGTTCTCCA	0.537													28	61					0	0	0	0	A	76464798	G	A	76464798	2	1	229	1	0	0	0	0	0	0	0	1	4638	1280	45	2		2	DNAH17	17	76464798	Silent	SNP	G	TCGA-CV-5436-01A-01D-1512-08	31173625	76464798	4730412	106	41831											
SALL3	27164	broad.mit.edu	37	chr18	76754297	76754297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggccagatccccaacaCgccgctgccggagggcttcc	6	4	14	17	4	0	1	0	0	0	1	2	2	2	2	6	4	2	2	6	4	1	1			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr18:76754297C>T	ENST00000536229.3	+	1	2616	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	SALL3_ENST00000537592.2_Missense_Mutation_p.T769M|SALL3_ENST00000575389.2_Missense_Mutation_p.T769M			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	769					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ATCCCCAACACGCCGCTGCCG	0.637													17	28					0	0	0	0	T	76754297	C	T	76754297	3	4	229	1	0	0	0	0	1	0	0	0	13897	536	19	1	2312	1	SALL3	18	76754297	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08		76754297	1322951	107	41832											
ANGPTL4	51129	broad.mit.edu	37	chr19	8435950	8435950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttctgggcagatggaggctgGacagtaattcagaggcgcca	10	8	15	8	1	2	2	1	0	1	2	2	4	2	4	1	5	0	3	1	5	1	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:8435950G>C	ENST00000301455.2	+	5	843	c.672G>C	c.(670-672)tgG>tgC	p.W224C	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.W57C|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.W186C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	224	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						ATGGAGGCTGGACAGTAATTC	0.587													10	16					0	0	0	0	C	8435950	G	C	8435950	3	2	229	1	0	0	0	0	1	0	0	0	616	1183	41	2	690	2	ANGPTL4	19	8435950	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08		8435950	50693033	108	41833											
ATG4D	84971	broad.mit.edu	37	chr19	10655726	10655726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcctgggggctgcctgacctCggactgtggctgggggtgca	3	9	18	11	1	0	1	0	1	0	0	2	2	1	2	3	6	2	3	3	6	0	0			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:10655726C>G	ENST00000309469.4	+	3	586	c.413C>G	c.(412-414)tCg>tGg	p.S138W	ATG4D_ENST00000540862.1_5'UTR	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	138					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGCCTGACCTCGGACTGTGGC	0.632													18	266					0	0	0	0	G	10655726	C	G	10655726	3	3	229	1	0	0	0	0	1	0	0	0	1103	893	31	3	423	3	ATG4D	19	10655726	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	2219776	10655726	48473257	109	41834											
CPAMD8	27151	broad.mit.edu	37	chr19	17088291	17088291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaccatgctgggggtcaCggccagatgaagagaggtca	10	5	18	8	1	2	3	2	1	0	2	2	5	2	4	2	6	1	1	2	6	1	0			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:17088291C>T	ENST00000443236.1	-	15	1817	c.1786G>A	c.(1786-1788)Gtg>Atg	p.V596M	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	549						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTGGGGGTCACGGCCAGATGA	0.592													29	51					0	0	0	0	T	17088291	C	T	17088291	3	4	229	1	0	0	0	0	1	0	0	0	3825	536	19	1	4124	1	CPAMD8	19	17088291	Missense_Mutation	SNP	C	TCGA-CV-5436-01A-01D-1512-08	6432565	17088291	42040692	110	41835											
ZSCAN22	342945	broad.mit.edu	37	chr19	58850657	58850657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcgtagctcagccctgatgGttcacttgcggatccacatc	7	11	10	13	2	2	1	2	1	0	0	5	2	3	2	2	2	3	3	2	2	1	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:58850657G>A	ENST00000329665.4	+	3	1588	c.1441G>A	c.(1441-1443)Gtt>Att	p.V481I		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	481					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|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;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AGCCCTGATGGTTCACTTGCG	0.587													28	44					0	0	0	0	A	58850657	G	A	58850657	3	1	229	1	0	0	0	0	1	0	0	0	18326	1261	44	4	1447	4	ZSCAN22	19	58850657	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	41762366	58850657	278326	111	41836											
FOXS1	2307	broad.mit.edu	37	chr20	30432595	30432595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaattcagtgcctgcagccGacactggtagctgctcccga	10	8	10	13	2	1	0	1	0	0	0	2	2	2	0	3	1	5	4	3	1	3	2			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr20:30432595G>A	ENST00000375978.3	-	1	825	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	251					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GCCTGCAGCCGACACTGGTAG	0.617													13	47					0	0	0	0	A	30432595	G	A	30432595	3	1	229	1	0	0	0	0	1	0	0	0	6082	1057	37	1	245	1	FOXS1	20	30432595	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08		30432595	32592925	112	41837											
ARFGEF2	10564	broad.mit.edu	37	chr20	47630398	47630398	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcatgtttgagatcatgaaGagctatggccacacctttga	11	12	10	8	0	2	4	2	3	0	2	2	5	2	4	2	1	1	2	2	1	2	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr20:47630398G>C	ENST00000371917.4	+	30	4080	c.4080G>C	c.(4078-4080)aaG>aaC	p.K1360N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1360					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGATCATGAAGAGCTATGGCC	0.473													42	153					0	0	0	0	C	47630398	G	C	47630398	3	2	229	1	0	0	0	0	1	0	0	0	855	933	33	2	4198	2	ARFGEF2	20	47630398	Missense_Mutation	SNP	G	TCGA-CV-5436-01A-01D-1512-08	17197803	47630398	15395122	113	41838											
GNAZ	2781	broad.mit.edu	37	chr22	23438215	23438215	+	Frame_Shift_Del	DEL	G	G	-																															gtgcagctctttgcgctgacGggccccgctgagagcaaggg																										TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:23438215delG	ENST00000248996.4	+	2	999	c.333delG	c.(331-333)acfs	p.T111fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	111						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TTGCGCTGACGGGCCCCGCTG	0.687													77	166	---	---	---	---					-	23438215	G	-	23438215	7	5	229	1	0	1	0	1	0	0	0	0	6565	1103	39	0	335	0	GNAZ	22	23438215	Frame_Shift_Del	DEL	G	TCGA-CV-5436-01A-01D-1512-08		23438215	27866351	114	41839											
GGT1	2678	broad.mit.edu	37	chr22	25016313	25016313	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggggctgtcggtggcggTgcctggggagatccgaggct	4	7	22	8	3	0	1	0	0	0	1	2	3	1	1	2	9	1	2	2	9	0	0			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:25016313T>A	ENST00000400382.1	+	8	1156	c.401T>A	c.(400-402)gTg>gAg	p.V134E	GGT1_ENST00000406383.2_Missense_Mutation_p.V134E|GGT1_ENST00000400380.1_Missense_Mutation_p.V134E|GGT1_ENST00000400383.1_Missense_Mutation_p.V134E|GGT1_ENST00000248923.4_Missense_Mutation_p.V134E			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	134					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCGGTGGCGGTGCCTGGGGAG	0.682													5	40					0	0	0	0	A	25016313	T	A	25016313	3	1	229	1	0	0	0	0	1	0	0	0	6412	1696	59	5	415	5	GGT1	22	25016313	Missense_Mutation	SNP	T	TCGA-CV-5436-01A-01D-1512-08	1578098	25016313	26288253	115	41840											
PLA2G3	50487	broad.mit.edu	37	chr22	31534395	31534395	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attctgtaggcattgctgaaAcctgccccagaacagatacc	12	9	8	12	0	1	3	0	1	1	2	1	3	1	3	4	1	5	3	4	1	4	4			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:31534395A>G	ENST00000215885.3	-	3	901	c.647_splice	c.e3-1	p.F217_splice		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	217	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CATTGCTGAAACCTGCCCCAG	0.602													11	51					0	0	0	0	G	31534395	A	G	31534395	5	3	229	1	0	0	0	0	0	0	1	0	12072	57	2	5	900	5	PLA2G3	22	31534395	Splice_Site	SNP	A	TCGA-CV-5436-01A-01D-1512-08	6518082	31534395	19770171	116	41841											
TMPRSS6	164656	broad.mit.edu	37	chr22	37491963	37491963	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccaggatcactaggcccTcggggtccacttcgtactcg	7	8	11	15	3	1	0	1	0	0	0	5	2	2	1	3	4	1	1	3	4	2	3			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:37491963T>C	ENST00000381792.2	-	5	712	c.572A>G	c.(571-573)gAg>gGg	p.E191G	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E200G|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E200G			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	200					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACTAGGCCCTCGGGGTCCAC	0.647													36	81					0	0	0	0	C	37491963	T	C	37491963	3	2	229	1	0	0	0	0	1	0	0	0	16345	1551	54	5	1892	5	TMPRSS6	22	37491963	Missense_Mutation	SNP	T	TCGA-CV-5436-01A-01D-1512-08	5957568	37491963	13812603	117	41842											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-																															ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc																										TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													7	63	---	---	---	---					-	72433666	TCC	-	72433664	7	5	229	1	0	1	0	1	0	0	0	0	10227	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-CV-5436-01A-01D-1512-08		72433664	82836896	118	41843											
TAS1R3	83756	broad.mit.edu	37	chr1	1269065	1269065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggctgttcgttcaccatCgggacagcccactggttcag	6	10	13	12	2	2	0	2	0	0	0	4	1	2	1	2	4	1	4	2	4	0	3	rs149144084		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:1269065C>T	ENST00000339381.5	+	6	1812	c.1780C>T	c.(1780-1782)Cgg>Tgg	p.R594W		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	594					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CGTTCACCATCGGGACAGCCC	0.687													4	22					0	0	0	0	T	1269065	C	T	1269065	3	4	230	1	0	0	0	0	1	0	0	0	15655	875	31	1	1802	1	TAS1R3	1	1269065	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08		1269065	247981556	1	41844											
SLC45A1	50651	broad.mit.edu	37	chr1	8386047	8386047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacgcctacatgatggaCgtgtgcagccccgcagacca	10	5	11	15	3	0	2	0	1	0	1	0	3	0	3	5	1	4	2	5	1	1	1	rs144175783		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:8386047C>A	ENST00000471889.1	+	4	1045	c.660C>A	c.(658-660)gaC>gaA	p.D220E	SLC45A1_ENST00000377479.2_Missense_Mutation_p.D254E|SLC45A1_ENST00000289877.8_Missense_Mutation_p.D220E			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	220					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ACATGATGGACGTGTGCAGCC	0.657													28	42					1.26612e-14	1.56804e-14	1	0	A	8386047	C	A	8386047	3	1	230	1	0	0	0	0	1	0	0	0	14728	535	19	3	670	3	SLC45A1	1	8386047	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	7116982	8386047	240864574	2	41845											
TCEB3	6924	broad.mit.edu	37	chr1	24077469	24077469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggggagccgatcctataGccctgaccacaggcagaaga	12	4	12	13	2	0	3	0	1	0	2	1	5	1	4	4	3	2	1	4	3	3	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:24077469G>A	ENST00000418390.2	+	4	723	c.452G>A	c.(451-453)aGc>aAc	p.S151N		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	151					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CGATCCTATAGCCCTGACCAC	0.552													13	27					0	0	0	0	A	24077469	G	A	24077469	3	1	230	1	0	0	0	0	1	0	0	0	15775	971	34	4	466	4	TCEB3	1	24077469	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	15691422	24077469	225173152	3	41846											
MACF1	23499	broad.mit.edu	37	chr1	39759235	39759235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaggaggaggaggaactaGcatatgactggagtgacaac	16	5	15	5	0	0	3	0	2	0	1	0	8	0	8	0	5	3	1	0	5	5	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:39759235G>A	ENST00000564288.1	+	18	2875	c.2098G>A	c.(2098-2100)Gca>Aca	p.A700T	MACF1_ENST00000539005.1_Missense_Mutation_p.A705T|MACF1_ENST00000361689.2_Missense_Mutation_p.A705T|MACF1_ENST00000372915.3_Missense_Mutation_p.A705T|MACF1_ENST00000317713.7_Missense_Mutation_p.A705T|MACF1_ENST00000567887.1_Missense_Mutation_p.A737T|MACF1_ENST00000545844.1_Missense_Mutation_p.A705T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	705	Poly-Glu.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAGGAACTAGCATATGACTG	0.443													12	51					0	0	0	0	A	39759235	G	A	39759235	3	1	230	1	0	0	0	0	1	0	0	0	9209	971	34	4	2179	4	MACF1	1	39759235	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	15681766	39759235	209491386	4	41847											
KLF17	128209	broad.mit.edu	37	chr1	44596220	44596220	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcaactgggaaagttgttCatggtctttcttccgttctg	6	17	10	8	1	4	0	1	0	3	0	5	1	5	1	1	2	2	4	1	2	2	6			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:44596220C>G	ENST00000372299.3	+	3	1020	c.962C>G	c.(961-963)tCa>tGa	p.S321*	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	321					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GAAAGTTGTTCATGGTCTTTC	0.463													3	76					0	0	0	0	G	44596220	C	G	44596220	4	3	230	1	0	0	0	0	0	1	0	0	8397	838	29	2	972	2	KLF17	1	44596220	Nonsense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	4836985	44596220	204654401	5	41848											
FCRL1	115350	broad.mit.edu	37	chr1	157773638	157773638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccactgacactcactgtGcacatttatctgggatctcc	9	11	6	15	0	3	1	1	1	2	0	4	2	3	2	3	1	1	1	3	1	1	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:157773638G>T	ENST00000358292.3	-	3	367	c.316C>A	c.(316-318)Cac>Aac	p.H106N	FCRL1_ENST00000491942.1_Missense_Mutation_p.H106N|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.H106N	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	106						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTCACTGTGCACATTTATC	0.522													5	49					0.000602214	0.000629588	1	0	T	157773638	G	T	157773638	3	4	230	1	0	0	0	0	1	0	0	0	5839	1319	46	4	1075	4	FCRL1	1	157773638	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	113177418	157773638	91476983	6	41849											
CD84	8832	broad.mit.edu	37	chr1	160523210	160523210	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacaaaaacactgaagacaGaatgagaacaagcagaaaga	24	2	9	6	0	0	6	0	2	0	5	0	8	0	6	0	0	4	1	0	0	8	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:160523210G>A	ENST00000368054.3	-	4	753	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	CD84_ENST00000368048.3_Silent_p.L240L|CD84_ENST00000311224.4_Silent_p.L240L|CD84_ENST00000534968.1_Silent_p.L126L|CD84_ENST00000368051.3_Silent_p.L240L|RP11-528G1.2_ENST00000446952.1_RNA	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	240					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACTGAAGACAGAATGAGAACA	0.468													4	38					0	0	0	0	A	160523210	G	A	160523210	2	1	230	1	0	0	0	0	0	0	0	1	3071	933	33	2		2	CD84	1	160523210	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08	2749572	160523210	88727411	7	41850											
POGK	57645	broad.mit.edu	37	chr1	166818449	166818449	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgatggtagtggaataTgctgagagtaccaacaactg	14	9	12	6	0	0	2	0	2	0	1	0	4	0	3	1	2	5	4	1	2	7	3			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:166818449T>C	ENST00000367875.1	+	5	993	c.633T>C	c.(631-633)taT>taC	p.Y211Y	POGK_ENST00000537173.1_Silent_p.Y93Y|POGK_ENST00000367876.4_Silent_p.Y211Y|POGK_ENST00000536514.1_Silent_p.Y126Y			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	211					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TAGTGGAATATGCTGAGAGTA	0.527													21	28					0	0	0	0	C	166818449	T	C	166818449	2	2	230	1	0	0	0	0	0	0	0	1	12257	1471	51	5		5	POGK	1	166818449	Silent	SNP	T	TCGA-CV-5439-01A-01D-1683-08	6295239	166818449	82432172	8	41851											
SEC16B	89866	broad.mit.edu	37	chr1	177930830	177930830	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagctgagaccagactCacgctgctggagaaggttgg	9	7	16	9	1	1	3	1	1	0	3	1	6	1	4	1	4	2	5	1	4	1	1			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:177930830C>A	ENST00000308284.6	-	6	771	c.682G>T	c.(682-684)Gag>Tag	p.E228*	RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Nonsense_Mutation_p.E228*|RP4-798P15.3_ENST00000528461.1_Nonsense_Mutation_p.E228*	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	228					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGACCAGACTCACGCTGCTGG	0.512													6	20					0.0215528	0.0221019	1	0	A	177930830	C	A	177930830	4	1	230	1	0	0	0	0	0	1	0	0	14074	835	29	2	2584	2	SEC16B	1	177930830	Nonsense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	11112381	177930830	71319791	9	41852											
FAM129A	116496	broad.mit.edu	37	chr1	184764621	184764621	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttcttcacagttgtcgggGtggatggcagctgcctgact	5	13	13	10	1	2	1	1	1	1	0	3	2	2	2	1	4	2	3	1	4	0	3			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:184764621G>A	ENST00000367511.3	-	14	2470	c.2277C>T	c.(2275-2277)caC>caT	p.H759H	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	759	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AGTTGTCGGGGTGGATGGCAG	0.562													70	159					0	0	0	0	A	184764621	G	A	184764621	2	1	230	1	0	0	0	0	0	0	0	1	5477	1252	44	4		4	FAM129A	1	184764621	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08	6833791	184764621	64486000	10	41853											
NAV1	89796	broad.mit.edu	37	chr1	201618224	201618224	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagacgctgtccaagtcggAgcactcgctcttccaggcca	9	7	10	15	3	1	1	0	0	1	1	5	2	3	2	3	2	1	3	3	2	2	1			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:201618224A>G	ENST00000367296.4	+	1	848	c.428A>G	c.(427-429)gAg>gGg	p.E143G	NAV1_ENST00000367302.1_Missense_Mutation_p.E156G|NAV1_ENST00000367300.3_Missense_Mutation_p.E143G|NAV1_ENST00000367297.4_Missense_Mutation_p.E143G|NAV1_ENST00000295624.6_Missense_Mutation_p.E143G	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	143					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCCAAGTCGGAGCACTCGCTC	0.672													5	10					0	0	0	0	G	201618224	A	G	201618224	3	3	230	1	0	0	0	0	1	0	0	0	10253	304	11	5	430	5	NAV1	1	201618224	Missense_Mutation	SNP	A	TCGA-CV-5439-01A-01D-1683-08	16853603	201618224	47632397	11	41854											
LAMB3	3914	broad.mit.edu	37	chr1	209804074	209804074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctggcagacacagacatCgtggacctgggagggggacc	9	5	17	10	1	0	2	0	0	0	2	1	5	0	5	2	5	1	2	2	5	0	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:209804074C>T	ENST00000391911.1	-	8	1218	c.829G>A	c.(829-831)Gat>Aat	p.D277N	LAMB3_ENST00000367030.3_Missense_Mutation_p.D277N|LAMB3_ENST00000356082.4_Missense_Mutation_p.D277N	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	277	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACACAGACATCGTGGACCTGG	0.627													4	36					0	0	0	0	T	209804074	C	T	209804074	3	4	230	1	0	0	0	0	1	0	0	0	8665	884	31	1	2749	1	LAMB3	1	209804074	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	8185850	209804074	39446547	12	41855											
USH2A	7399	broad.mit.edu	37	chr1	215847915	215847915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatgttggagagtccatGttctctggcagggcctccat	7	12	12	10	0	1	1	0	0	1	1	4	2	3	1	3	3	1	4	3	3	1	2	rs111033408		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:215847915G>A	ENST00000366943.2	-	63	13724	c.13338C>T	c.(13336-13338)aaC>aaT	p.N4446N	USH2A_ENST00000307340.3_Silent_p.N4446N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4446	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGAGTCCATGTTCTCTGGCA	0.463										HNSCC(13;0.011)			41	31					0	0	0	0	A	215847915	G	A	215847915	2	1	230	1	0	0	0	0	0	0	0	1	17132	1368	48	4		4	USH2A	1	215847915	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08	6043841	215847915	33402706	13	41856											
ZNF695	57116	broad.mit.edu	37	chr1	247162685	247162685	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctgtgttcacgttcCagggctctttccttgcctcc	2	17	7	15	1	4	0	1	0	3	0	8	0	7	0	4	1	1	3	4	1	0	5			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:247162685C>A	ENST00000339986.7	-	3	371	c.224G>T	c.(223-225)tGg>tTg	p.W75L	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Missense_Mutation_p.W75L	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	75	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GTTCACGTTCCAGGGCTCTTT	0.468													8	31					5.4927e-09	6.27181e-09	1	0	A	247162685	C	A	247162685	3	1	230	1	0	0	0	0	1	0	0	0	18193	595	21	4	1331	4	ZNF695	1	247162685	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	31314770	247162685	2087936	14	41857											
APOB	338	broad.mit.edu	37	chr2	21234136	21234136	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccagcgatgtctgtgttGagccgatggctaaactccac	9	9	11	12	2	1	1	0	1	1	0	2	3	2	1	3	1	4	2	3	1	2	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:21234136G>T	ENST00000233242.1	-	26	5731	c.5604C>A	c.(5602-5604)ctC>ctA	p.L1868L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1868					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTCTGTGTTGAGCCGATGGC	0.458													29	83					3.73988e-18	4.77874e-18	1	0	T	21234136	G	T	21234136	2	4	230	1	0	0	0	0	0	0	0	1	787	1277	45	2		2	APOB	2	21234136	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08		21234136	221965237	15	41858											
APOB	338	broad.mit.edu	37	chr2	21255430	21255430	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgaggctgtccacactgaAccaaggcttgtaaagtgatg	12	9	11	9	0	0	3	0	3	0	0	1	3	1	3	2	2	1	3	2	2	4	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:21255430A>G	ENST00000233242.1	-	10	1275	c.1148T>C	c.(1147-1149)gTt>gCt	p.V383A	APOB_ENST00000399256.4_Missense_Mutation_p.V383A	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	383	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCACACTGAACCAAGGCTTG	0.502													11	21					0	0	0	0	G	21255430	A	G	21255430	3	3	230	1	0	0	0	0	1	0	0	0	787	43	2	5	12623	5	APOB	2	21255430	Missense_Mutation	SNP	A	TCGA-CV-5439-01A-01D-1683-08	21294	21255430	221943943	16	41859											
BRE	9577	broad.mit.edu	37	chr2	28117398	28117398	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattctttccttctgctttcAgtggtgatttacaagtcaag	8	18	7	8	0	4	1	2	1	2	0	5	1	5	1	1	1	2	1	1	1	4	7			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:28117398A>T	ENST00000344773.2	+	2	114		c.e2-1		BRE_ENST00000379624.1_Splice_Site|BRE_ENST00000603461.1_Intron|BRE_ENST00000379632.2_Splice_Site|BRE_ENST00000361704.2_Splice_Site|BRE_ENST00000342045.2_Splice_Site	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)						apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTCTGCTTTCAGTGGTGATTT	0.438													44	107					0	0	0	0	T	28117398	A	T	28117398	5	4	230	1	0	0	0	0	0	0	1	0	1517	202	7	5		5	BRE	2	28117398	Splice_Site	SNP	A	TCGA-CV-5439-01A-01D-1683-08	6861968	28117398	215081975	17	41860											
POLR1A	25885	broad.mit.edu	37	chr2	86327213	86327213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaatctgcagggcccaaagCtaaatcgtacaggccgtttg	11	8	12	10	2	1	0	0	0	1	0	2	1	1	1	2	3	3	4	2	3	5	3			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:86327213C>T	ENST00000263857.6	-	2	538	c.160G>A	c.(160-162)Gct>Act	p.A54T	POLR1A_ENST00000409681.1_Missense_Mutation_p.A54T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	54					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGGCCCAAAGCTAAATCGTAC	0.517													14	30					0	0	0	0	T	86327213	C	T	86327213	3	4	230	1	0	0	0	0	1	0	0	0	12281	797	28	4	5134	4	POLR1A	2	86327213	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	58209815	86327213	156872160	18	41861											
FABP1	2168	broad.mit.edu	37	chr2	88427526	88427526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctgcagttggtacttgccgGagaaactcatggtggcaata	10	11	12	8	1	2	1	1	0	1	1	2	2	2	1	1	4	4	4	1	4	4	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:88427526G>A	ENST00000393750.3	-	1	42	c.11C>T	c.(10-12)tCc>tTc	p.S4F	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Missense_Mutation_p.S4F			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	4					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GTACTTGCCGGAGAAACTCAT	0.537													31	51					0	0	0	0	A	88427526	G	A	88427526	3	1	230	1	0	0	0	0	1	0	0	0	5396	1174	41	2	388	2	FABP1	2	88427526	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	2100313	88427526	154771847	19	41862											
AFF3	3899	broad.mit.edu	37	chr2	100203709	100203709	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttctctccctgggacttcTtgatctccctgtagtcgtct	3	17	7	14	1	4	1	0	1	4	0	8	2	5	2	2	1	0	1	2	1	1	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:100203709T>C	ENST00000317233.4	-	15	2733	c.2498A>G	c.(2497-2499)aAg>aGg	p.K833R	AFF3_ENST00000409579.1_Missense_Mutation_p.K858R|AFF3_ENST00000356421.2_Missense_Mutation_p.K858R|AFF3_ENST00000409236.1_Missense_Mutation_p.K833R	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	833					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTGGGACTTCTTGATCTCCCT	0.463													50	110					0	0	0	0	C	100203709	T	C	100203709	3	2	230	1	0	0	0	0	1	0	0	0	358	1609	56	5	1222	5	AFF3	2	100203709	Missense_Mutation	SNP	T	TCGA-CV-5439-01A-01D-1683-08	11776183	100203709	142995664	20	41863											
CNTNAP5	129684	broad.mit.edu	37	chr2	125284860	125284860	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttttttctctgtcccacAgggtgccccgacaatctcac	7	13	6	15	1	3	0	1	0	3	0	6	1	4	0	3	1	1	0	3	1	1	3			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:125284860A>G	ENST00000431078.1	+	10	1838		c.e10-1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTGTCCCACAGGGTGCCCCG	0.453													3	21					0	0	0	0	G	125284860	A	G	125284860	5	3	230	1	0	0	0	0	0	0	1	0	3680	202	7	5	1511	5	CNTNAP5	2	125284860	Splice_Site	SNP	A	TCGA-CV-5439-01A-01D-1683-08	25081151	125284860	117914513	21	41864											
ABCA12	26154	broad.mit.edu	37	chr2	215840653	215840653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggataacctgagcaatgagaCctttccagttcctgcgggtg	9	10	12	10	1	0	2	0	2	0	1	2	4	2	3	4	2	3	2	4	2	2	3			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:215840653C>T	ENST00000272895.7	-	34	5456	c.5237G>A	c.(5236-5238)gGt>gAt	p.G1746D	ABCA12_ENST00000389661.4_Missense_Mutation_p.G1428D	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1746					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCAATGAGACCTTTCCAGTT	0.498													14	30					0	0	0	0	T	215840653	C	T	215840653	3	4	230	1	0	0	0	0	1	0	0	0	30	507	18	4	2630	4	ABCA12	2	215840653	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	90555793	215840653	27358720	22	41865											
PLCD4	84812	broad.mit.edu	37	chr2	219494358	219494358	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgttcaaagatgtcgTggccacagtagcacagtatg	11	10	10	10	1	1	1	1	0	0	1	3	1	2	1	2	1	1	4	2	1	3	3			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:219494358T>C	ENST00000450993.2	+	8	1430	c.1091T>C	c.(1090-1092)gTg>gCg	p.V364A	PLCD4_ENST00000417849.1_Missense_Mutation_p.V364A|PLCD4_ENST00000432688.1_Missense_Mutation_p.V364A	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	364	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAAGATGTCGTGGCCACAGTA	0.592													10	22					0	0	0	0	C	219494358	T	C	219494358	3	2	230	1	0	0	0	0	1	0	0	0	12105	1696	59	5	1117	5	PLCD4	2	219494358	Missense_Mutation	SNP	T	TCGA-CV-5439-01A-01D-1683-08	3653705	219494358	23705015	23	41866											
TRANK1	9881	broad.mit.edu	37	chr3	36897366	36897366	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaactaggaatggttgActcttcctgtgcagaccatc	9	12	9	11	0	1	2	0	1	1	1	3	3	2	3	3	2	3	2	3	2	3	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:36897366A>T	ENST00000429976.2	-	12	3962	c.3715T>A	c.(3715-3717)Tca>Aca	p.S1239T	TRANK1_ENST00000301807.6_Missense_Mutation_p.S689T|TRANK1_ENST00000428977.2_Missense_Mutation_p.S689T			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1239					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGAATGGTTGACTCTTCCTGT	0.473													46	43					0	0	0	0	T	36897366	A	T	36897366	3	4	230	1	0	0	0	0	1	0	0	0	16549	275	10	5	5110	5	TRANK1	3	36897366	Missense_Mutation	SNP	A	TCGA-CV-5439-01A-01D-1683-08		36897366	161125064	24	41867											
HYAL1	3373	broad.mit.edu	37	chr3	50338477	50338477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctgccccctgggccGcactctcccccaggctgtgc	3	7	10	21	1	1	0	0	0	1	0	3	0	2	0	6	2	3	3	6	2	0	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:50338477G>A	ENST00000266031.4	-	2	1547	c.932C>T	c.(931-933)gCg>gTg	p.A311V	HYAL1_ENST00000457214.2_Missense_Mutation_p.A129V|HYAL1_ENST00000395143.2_Intron|HYAL1_ENST00000447605.2_Missense_Mutation_p.A52V|HYAL1_ENST00000320295.8_Missense_Mutation_p.A311V|HYAL1_ENST00000395144.2_Missense_Mutation_p.A311V			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	311						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	CCCCTGGGCCGCACTCTCCCC	0.627													3	26					0	0	0	0	A	50338477	G	A	50338477	3	1	230	1	0	0	0	0	1	0	0	0	7516	1087	38	1	383	1	HYAL1	3	50338477	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	13441111	50338477	147683953	25	41868											
SAMD7	344658	broad.mit.edu	37	chr3	169642876	169642876	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaccacctgaatccataaAggcagtggccagaaggaatg	14	8	10	9	0	0	2	0	1	0	1	1	3	1	3	4	3	1	1	4	3	6	3			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:169642876A>T	ENST00000428432.2	+	5	631	c.242A>T	c.(241-243)aAg>aTg	p.K81M	SAMD7_ENST00000335556.3_Missense_Mutation_p.K81M	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	81										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAATCCATAAAGGCAGTGGCC	0.343													5	66					0	0	0	0	T	169642876	A	T	169642876	3	4	230	1	0	0	0	0	1	0	0	0	13909	72	3	5	252	5	SAMD7	3	169642876	Missense_Mutation	SNP	A	TCGA-CV-5439-01A-01D-1683-08	119304399	169642876	28379554	26	41869											
TNIK	23043	broad.mit.edu	37	chr3	170819325	170819325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcgctactttctgacTcctcactggaggaggagtaa	8	12	9	12	1	2	1	1	1	1	0	5	4	4	4	2	3	1	2	2	3	2	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:170819325T>C	ENST00000436636.2	-	22	2848	c.2504A>G	c.(2503-2505)gAg>gGg	p.E835G	TNIK_ENST00000460047.1_Missense_Mutation_p.E772G|TNIK_ENST00000488470.1_Missense_Mutation_p.E780G|TNIK_ENST00000369326.5_Missense_Mutation_p.E813G|TNIK_ENST00000357327.5_Missense_Mutation_p.E806G|TNIK_ENST00000341852.6_Missense_Mutation_p.E751G|TNIK_ENST00000284483.8_Missense_Mutation_p.E827G|TNIK_ENST00000538048.1_Missense_Mutation_p.E787G|TNIK_ENST00000475336.1_Missense_Mutation_p.E743G|TNIK_ENST00000470834.1_Missense_Mutation_p.E798G	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	835	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACTTTCTGACTCCTCACTGGA	0.493													128	144					0	0	0	0	C	170819325	T	C	170819325	3	2	230	1	0	0	0	0	1	0	0	0	16407	1551	54	5	1626	5	TNIK	3	170819325	Missense_Mutation	SNP	T	TCGA-CV-5439-01A-01D-1683-08	1176449	170819325	27203105	27	41870											
JAKMIP1	152789	broad.mit.edu	37	chr4	6082004	6082004	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtcattcaaggaggtatgCcgcttcagagacgcctgcgc	9	8	13	11	3	3	1	3	0	0	1	3	3	3	2	2	3	2	2	2	3	2	3			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr4:6082004C>T	ENST00000409021.3	-	7	1586	c.1137G>A	c.(1135-1137)cgG>cgA	p.R379R	JAKMIP1_ENST00000409371.3_Silent_p.R214R|JAKMIP1_ENST00000410077.2_Silent_p.R214R|JAKMIP1_ENST00000282924.5_Silent_p.R379R|JAKMIP1_ENST00000409831.1_Silent_p.R379R|JAKMIP1_ENST00000457227.2_5'UTR	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	379	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAGGTATGCCGCTTCAGAG	0.572													3	42					0	0	0	0	T	6082004	C	T	6082004	2	4	230	1	0	0	0	0	0	0	0	1	7993	726	26	4		4	JAKMIP1	4	6082004	Silent	SNP	C	TCGA-CV-5439-01A-01D-1683-08		6082004	185072272	28	41871											
TERT	7015	broad.mit.edu	37	chr5	1268652	1268652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgtcccgccgaatcccCgcaaacagcttgttctccat	8	8	6	19	4	1	0	0	0	1	0	4	1	3	0	6	0	2	3	6	0	2	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:1268652C>T	ENST00000296820.5	-	7	2440	c.2383G>A	c.(2383-2385)Ggg>Agg	p.G795R	TERT_ENST00000334602.6_Silent_p.A855A|TERT_ENST00000310581.5_Silent_p.A855A|TERT_ENST00000508104.2_Missense_Mutation_p.G795R			O14746	TERT_HUMAN	telomerase reverse transcriptase	0	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|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)			GCCGAATCCCCGCAAACAGCT	0.602									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				5	43					0	0	0	0	T	1268652	C	T	1268652	3	4	230	1	0	0	0	0	1	0	0	0	15858	639	23	1	865	1	TERT	5	1268652	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08		1268652	179646608	29	41872											
CDH9	1007	broad.mit.edu	37	chr5	26885961	26885961	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctttccgagtcatgatTcctgctgtattatctggggg	6	15	10	10	1	3	1	1	1	2	0	5	2	5	1	3	2	1	2	3	2	2	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:26885961T>C	ENST00000231021.4	-	11	1816	c.1644A>G	c.(1642-1644)ggA>ggG	p.G548G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	548	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GAGTCATGATTCCTGCTGTAT	0.328													3	82					0	0	0	0	C	26885961	T	C	26885961	2	2	230	1	0	0	0	0	0	0	0	1	3146	1770	62	5		5	CDH9	5	26885961	Silent	SNP	T	TCGA-CV-5439-01A-01D-1683-08	25617309	26885961	154029299	30	41873											
ADAMTS12	81792	broad.mit.edu	37	chr5	33637800	33637800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacaggggtggacgttgcaCaagcgatagcgttttctttc	8	11	13	9	4	1	0	0	0	1	0	2	3	1	1	0	3	3	3	0	3	2	5			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:33637800C>A	ENST00000504830.1	-	12	2105	c.1770G>T	c.(1768-1770)ttG>ttT	p.L590F	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L590F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	590	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGACGTTGCACAAGCGATAGC	0.468										HNSCC(64;0.19)			20	48					4.35082e-09	5.03944e-09	1	0	A	33637800	C	A	33637800	3	1	230	1	0	0	0	0	1	0	0	0	257	477	17	4	3066	4	ADAMTS12	5	33637800	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	6751839	33637800	147277460	31	41874											
HSPB3	8988	broad.mit.edu	37	chr5	53751689	53751689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaagagtttgaagctcgaGgtctagaagactgcaggctg	12	8	15	6	1	1	4	0	1	1	3	2	6	1	5	0	3	2	4	0	3	4	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:53751689G>A	ENST00000302005.1	+	1	245	c.70G>A	c.(70-72)Ggt>Agt	p.G24S		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	24					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TGAAGCTCGAGGTCTAGAAGA	0.507													8	91					0	0	0	0	A	53751689	G	A	53751689	3	1	230	1	0	0	0	0	1	0	0	0	7473	1000	35	4	72	4	HSPB3	5	53751689	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	20113889	53751689	127163571	32	41875											
PDE8B	8622	broad.mit.edu	37	chr5	76624877	76624877	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcctcgcagtggtttcGcgagtgtaagtgcacctccc	6	11	12	12	3	0	1	0	1	0	0	4	2	2	1	3	1	1	4	3	1	1	2	rs142671242		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:76624877G>T	ENST00000264917.5	+	4	690	c.645G>T	c.(643-645)tcG>tcT	p.S215S	PDE8B_ENST00000340978.3_Silent_p.S215S|PDE8B_ENST00000333194.4_Silent_p.S215S|PDE8B_ENST00000342343.4_Silent_p.S195S|PDE8B_ENST00000346042.3_Silent_p.S215S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	215					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CAGTGGTTTCGCGAGTGTAAG	0.488													14	12					9.05144e-12	1.104e-11	1	0	T	76624877	G	T	76624877	2	4	230	1	0	0	0	0	0	0	0	1	11725	1074	38	3		3	PDE8B	5	76624877	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08	22873188	76624877	104290383	33	41876											
GDF9	2661	broad.mit.edu	37	chr5	132197721	132197721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgatgggaagatctcccatCctcagcagcctcttctccca	8	10	8	15	0	4	2	1	1	3	1	7	3	5	3	4	1	2	1	4	1	1	1			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:132197721C>T	ENST00000378673.2	-	3	1791	c.925G>A	c.(925-927)Gat>Aat	p.D309N	GDF9_ENST00000296875.2_Missense_Mutation_p.D309N			O60383	GDF9_HUMAN	growth differentiation factor 9	309					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATCTCCCATCCTCAGCAGCC	0.522													14	35					0	0	0	0	T	132197721	C	T	132197721	3	4	230	1	0	0	0	0	1	0	0	0	6370	855	30	2	443	2	GDF9	5	132197721	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	55572844	132197721	48717539	34	41877											
SEC24A	10802	broad.mit.edu	37	chr5	134033663	134033663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagcacaacccagtccaaGtacagaaattacagaaggaa	19	5	7	10	0	1	2	1	0	0	2	2	3	2	3	2	1	4	2	2	1	7	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:134033663G>A	ENST00000398844.2	+	15	2470	c.2182G>A	c.(2182-2184)Gta>Ata	p.V728I		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	728					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAGTCCAAGTACAGAAATT	0.413													4	136					0	0	0	0	A	134033663	G	A	134033663	3	1	230	1	0	0	0	0	1	0	0	0	14081	1029	36	4	2240	4	SEC24A	5	134033663	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	1835942	134033663	46881597	35	41878											
RANBP9	10048	broad.mit.edu	37	chr6	13642754	13642754	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattcttctagaacggtctgGtctgtagatctggcaaaggc	10	12	11	8	1	5	2	0	0	5	2	5	2	5	2	0	4	1	2	0	4	5	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:13642754G>A	ENST00000011619.3	-	7	1240	c.1182C>T	c.(1180-1182)gaC>gaT	p.D394D	RANBP9_ENST00000539980.1_Silent_p.D165D	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	394	LisH.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GAACGGTCTGGTCTGTAGATC	0.373													15	38					0	0	0	0	A	13642754	G	A	13642754	2	1	230	1	0	0	0	0	0	0	0	1	13114	1252	44	4		4	RANBP9	6	13642754	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08		13642754	157472313	36	41879											
NUP153	9972	broad.mit.edu	37	chr6	17649453	17649453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaggaagttgtgatctcagGggaactaaaattaaaggtag	16	9	13	3	0	1	2	1	1	1	1	2	4	1	4	0	4	1	2	0	4	7	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:17649453G>A	ENST00000262077.2	-	12	1473	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	NUP153_ENST00000537253.1_Missense_Mutation_p.P523S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	492					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTGATCTCAGGGGAACTAAAA	0.373													21	53					0	0	0	0	A	17649453	G	A	17649453	3	1	230	1	0	0	0	0	1	0	0	0	10826	1232	43	4	2997	4	NUP153	6	17649453	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	4006699	17649453	153465614	37	41880											
ZBTB9	221504	broad.mit.edu	37	chr6	33423586	33423586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactctctcagactcctcagCcccagagagtatcaggggtt	9	9	9	14	0	4	2	3	0	1	2	6	3	5	2	3	2	1	2	3	2	1	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:33423586C>T	ENST00000395064.2	+	2	977	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	237	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GACTCCTCAGCCCCAGAGAGT	0.562													22	29					0	0	0	0	T	33423586	C	T	33423586	3	4	230	1	0	0	0	0	1	0	0	0	17653	739	26	4	711	4	ZBTB9	6	33423586	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	15774133	33423586	137691481	38	41881											
BAI3	577	broad.mit.edu	37	chr6	70071099	70071099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagtgactatattgtgatgCccagaagttctgtaaataac	15	12	8	6	0	1	3	0	2	1	1	1	3	1	3	1	0	2	2	1	0	7	6			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:70071099C>T	ENST00000370598.1	+	29	4755	c.3934C>T	c.(3934-3936)Ccc>Tcc	p.P1312S	BAI3_ENST00000546190.1_Missense_Mutation_p.P276S|BAI3_ENST00000238918.8_Missense_Mutation_p.P518S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1312					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATTGTGATGCCCAGAAGTTC	0.398													10	36					0	0	0	0	T	70071099	C	T	70071099	3	4	230	1	0	0	0	0	1	0	0	0	1304	739	26	4	4040	4	BAI3	6	70071099	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	36647513	70071099	101043968	39	41882											
RIMS1	22999	broad.mit.edu	37	chr6	72960961	72960961	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttagatgatgaaccgcAttggtataaacttcagacac	13	12	8	8	1	1	4	1	2	0	2	1	4	1	4	1	1	2	3	1	1	5	6			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:72960961A>T	ENST00000264839.7	+	15	2588	c.2588A>T	c.(2587-2589)cAt>cTt	p.H863L	RIMS1_ENST00000491071.2_Missense_Mutation_p.H863L|RIMS1_ENST00000523963.1_Missense_Mutation_p.H337L|RIMS1_ENST00000522291.1_Missense_Mutation_p.H863L|RIMS1_ENST00000521978.1_Missense_Mutation_p.H863L|RIMS1_ENST00000348717.5_Missense_Mutation_p.H863L|RIMS1_ENST00000520567.1_Missense_Mutation_p.H863L|RIMS1_ENST00000518273.1_Missense_Mutation_p.H863L|RIMS1_ENST00000517960.1_Missense_Mutation_p.H863L|RIMS1_ENST00000425662.2_Missense_Mutation_p.H256L|RIMS1_ENST00000517827.1_Missense_Mutation_p.H322L|RIMS1_ENST00000401910.3_Missense_Mutation_p.H337L			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	863					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)				GATGAACCGCATTGGTATAAA	0.393													4	7					0	0	0	0	T	72960961	A	T	72960961	3	4	230	1	0	0	0	0	1	0	0	0	13452	217	8	5	2809	5	RIMS1	6	72960961	Missense_Mutation	SNP	A	TCGA-CV-5439-01A-01D-1683-08	2889862	72960961	98154106	40	41883											
SYNE1	23345	broad.mit.edu	37	chr6	152554995	152554995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatgcgcgacagctcagagCgcagcgtggctgtgtccacc	8	6	13	14	4	1	1	1	0	0	1	2	2	2	1	2	1	4	3	2	1	1	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:152554995C>A	ENST00000367255.5	-	112	21234	c.20633G>T	c.(20632-20634)cGc>cTc	p.R6878L	SYNE1_ENST00000265368.4_Missense_Mutation_p.R6878L|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6490L|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6807L|SYNE1_ENST00000356820.4_Missense_Mutation_p.R1402L|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6807L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6878					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGCTCAGAGCGCAGCGTGGC	0.498										HNSCC(10;0.0054)			17	34					9.16793e-09	1.03946e-08	1	0	A	152554995	C	A	152554995	3	1	230	1	0	0	0	0	1	0	0	0	15536	768	27	3	5973	3	SYNE1	6	152554995	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	79594034	152554995	18560072	41	41884											
LPA	4018	broad.mit.edu	37	chr6	160969605	160969605	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatcgcgtcaggttgcagTactcccacctgatgctgggg	7	9	13	12	2	1	1	1	1	0	0	3	1	2	1	2	3	4	5	2	3	1	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:160969605T>A	ENST00000447678.1	-	32	5180	c.5060A>T	c.(5059-5061)tAc>tTc	p.Y1687F	LPA_ENST00000316300.5_Missense_Mutation_p.Y1687F	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4195	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAGGTTGCAGTACTCCCACCT	0.537													20	48					0	0	0	0	A	160969605	T	A	160969605	3	1	230	1	0	0	0	0	1	0	0	0	8967	1638	57	5	1098	5	LPA	6	160969605	Missense_Mutation	SNP	T	TCGA-CV-5439-01A-01D-1683-08	8414610	160969605	10145462	42	41885											
CYP2W1	54905	broad.mit.edu	37	chr7	1027134	1027134	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccgctgcaccgcggcCgacacacagctgggcggctt	5	5	14	17	5	0	0	0	0	0	0	0	1	0	0	4	3	3	4	4	3	0	1			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:1027134C>G	ENST00000340150.6	+	7	964	c.942C>G	c.(940-942)gcC>gcG	p.A314A	CYP2W1_ENST00000308919.7_Silent_p.A370A			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	370					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCACCGCGGCCGACACACAGC	0.711													3	1					0	0	0	0	G	1027134	C	G	1027134	2	3	230	1	0	0	0	0	0	0	0	1	4208	639	23	3		3	CYP2W1	7	1027134	Silent	SNP	C	TCGA-CV-5439-01A-01D-1683-08		1027134	158111529	43	41886											
AMPH	273	broad.mit.edu	37	chr7	38433623	38433623	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaggcactgttgcttcGagctcctctgcttcaggttg	5	13	11	12	1	2	1	1	1	1	0	4	2	3	1	2	2	3	6	2	2	0	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:38433623G>T	ENST00000356264.2	-	18	1805	c.1590C>A	c.(1588-1590)ctC>ctA	p.L530L	AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000325590.5_Silent_p.L488L|AMPH_ENST00000428293.2_Silent_p.L488L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	530					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTGTTGCTTCGAGCTCCTCTG	0.562													40	61					1.59361e-14	1.95856e-14	1	0	T	38433623	G	T	38433623	2	4	230	1	0	0	0	0	0	0	0	1	588	1045	37	3		3	AMPH	7	38433623	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08	37406489	38433623	120705040	44	41887											
ZNF804B	219578	broad.mit.edu	37	chr7	88963462	88963462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcctggatgagttttcatCactggagccaagtgaacaaa	13	10	10	8	0	2	2	2	2	0	0	2	4	2	4	2	2	3	1	2	2	3	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:88963462C>T	ENST00000333190.4	+	4	1775	c.1166C>T	c.(1165-1167)tCa>tTa	p.S389L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	389						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAGTTTTCATCACTGGAGCCA	0.393										HNSCC(36;0.09)			10	44					0	0	0	0	T	88963462	C	T	88963462	3	4	230	1	0	0	0	0	1	0	0	0	18264	838	29	2	1180	2	ZNF804B	7	88963462	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	50529839	88963462	70175201	45	41888											
SERPINE1	5054	broad.mit.edu	37	chr7	100778862	100778862	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacagtttcaggctgacttCacgagtctttcaggtaagaa	12	11	10	8	1	4	3	3	1	1	2	4	4	4	3	0	2	0	3	0	2	2	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:100778862C>T	ENST00000223095.4	+	6	1144	c.987C>T	c.(985-987)ttC>ttT	p.F329F	SERPINE1_ENST00000445463.2_Silent_p.F314F	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	329					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGGCTGACTTCACGAGTCTTT	0.527													33	68					0	0	0	0	T	100778862	C	T	100778862	2	4	230	1	0	0	0	0	0	0	0	1	14198	825	29	2		2	SERPINE1	7	100778862	Silent	SNP	C	TCGA-CV-5439-01A-01D-1683-08	11815400	100778862	58359801	46	41889											
CHD7	55636	broad.mit.edu	37	chr8	61655163	61655163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagcctcagggaacttatgCctctccacctcccatgtcac	9	9	6	17	0	3	0	2	0	1	0	5	1	4	1	5	1	3	0	5	1	2	1			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:61655163C>T	ENST00000423902.2	+	2	1651	c.1172C>T	c.(1171-1173)gCc>gTc	p.A391V	CHD7_ENST00000524602.1_Missense_Mutation_p.A391V|CHD7_ENST00000525508.1_Missense_Mutation_p.A391V	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	391	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAACTTATGCCTCTCCACCT	0.522													19	49					0	0	0	0	T	61655163	C	T	61655163	3	4	230	1	0	0	0	0	1	0	0	0	3359	739	26	4	1174	4	CHD7	8	61655163	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08		61655163	84708859	47	41890											
XKR9	389668	broad.mit.edu	37	chr8	71619348	71619348	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacaacttattcttcaactCtacattcttctggagcatgg	10	14	5	12	0	5	0	1	0	4	0	5	1	5	1	1	2	4	1	1	2	4	6			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:71619348C>G	ENST00000408926.3	+	4	987	c.453C>G	c.(451-453)ctC>ctG	p.L151L	XKR9_ENST00000520030.1_Silent_p.L151L|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	151						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTCTTCAACTCTACATTCTTC	0.393													3	70					0	0	0	0	G	71619348	C	G	71619348	2	3	230	1	0	0	0	0	0	0	0	1	17534	900	32	2		2	XKR9	8	71619348	Silent	SNP	C	TCGA-CV-5439-01A-01D-1683-08	9964185	71619348	74744674	48	41891											
TERF1	7013	broad.mit.edu	37	chr8	73942569	73942569	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaattttttcttcttttaaAgtgttagtgacaaacagtct	12	18	5	6	0	3	1	0	1	3	0	3	1	3	1	0	0	1	1	0	0	5	7			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:73942569A>G	ENST00000276603.5	+	7	910		c.e7-1		TERF1_ENST00000276602.6_Intron	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1						age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			CTTCTTTTAAAGTGTTAGTGA	0.299													4	18					0	0	0	0	G	73942569	A	G	73942569	5	3	230	1	0	0	0	0	0	0	1	0	15855	86	3	5	912	5	TERF1	8	73942569	Splice_Site	SNP	A	TCGA-CV-5439-01A-01D-1683-08	2323221	73942569	72421453	49	41892											
NCALD	83988	broad.mit.edu	37	chr8	102731518	102731518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccttgctgatatagcCatttccgtccaggtcgtaca	7	13	8	13	2	1	1	0	1	1	0	4	1	3	1	4	1	4	2	4	1	3	5			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:102731518C>A	ENST00000395923.1	-	4	799	c.340G>T	c.(340-342)Ggc>Tgc	p.G114C	NCALD_ENST00000311028.3_Missense_Mutation_p.G114C|NCALD_ENST00000220931.6_Missense_Mutation_p.G114C|NCALD_ENST00000521599.1_Missense_Mutation_p.G114C|NCALD_ENST00000519508.2_Missense_Mutation_p.G114C|NCALD_ENST00000522951.1_Missense_Mutation_p.G114C	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	114	EF-hand 3.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CTGATATAGCCATTTCCGTCC	0.468													41	80					9.62906e-15	1.20177e-14	1	0	A	102731518	C	A	102731518	3	1	230	1	0	0	0	0	1	0	0	0	10271	594	21	4	253	4	NCALD	8	102731518	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	28788949	102731518	43632504	50	41893											
NOV	4856	broad.mit.edu	37	chr8	120435311	120435311	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtcacaccaactgtcCtaagaacaatgaggccttcc	12	8	6	15	0	1	2	1	1	0	1	3	2	3	2	5	1	2	0	5	1	4	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:120435311C>A	ENST00000259526.3	+	5	1240	c.1013C>A	c.(1012-1014)cCt>cAt	p.P338H	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	338	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCAACTGTCCTAAGAACAAT	0.507													52	117					2.48254e-18	3.19751e-18	1	0	A	120435311	C	A	120435311	3	1	230	1	0	0	0	0	1	0	0	0	10623	681	24	4	1031	4	NOV	8	120435311	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	17703793	120435311	25928711	51	41894											
APBA1	320	broad.mit.edu	37	chr9	72071296	72071296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcagcacaacgatgttcCcaatgtccgcaatgtaggaa	13	8	8	12	2	1	0	1	0	0	0	3	2	3	1	3	1	2	4	3	1	5	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:72071296C>T	ENST00000265381.4	-	8	1877	c.1655G>A	c.(1654-1656)gGg>gAg	p.G552E	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	552	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						AACGATGTTCCCAATGTCCGC	0.577													170	269					0	0	0	0	T	72071296	C	T	72071296	3	4	230	1	0	0	0	0	1	0	0	0	757	623	22	4	882	4	APBA1	9	72071296	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08		72071296	69142135	52	41895											
HABP4	22927	broad.mit.edu	37	chr9	99227713	99227713	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggtggccctgggaacAgagtttttgacgcttttgac	8	11	14	8	1	0	4	0	2	0	2	0	5	0	5	1	3	1	3	1	3	1	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:99227713A>G	ENST00000375249.4	+	3	682	c.607A>G	c.(607-609)Aga>Gga	p.R203G	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	203					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CCCTGGGAACAGAGTTTTTGA	0.478													63	96					0	0	0	0	G	99227713	A	G	99227713	3	3	230	1	0	0	0	0	1	0	0	0	6989	180	7	5	617	5	HABP4	9	99227713	Missense_Mutation	SNP	A	TCGA-CV-5439-01A-01D-1683-08	27156417	99227713	41985718	53	41896											
GRIN3A	116443	broad.mit.edu	37	chr9	104335733	104335733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactaaagatgtatttccgtCggttgtcatgactcagattg	10	14	9	8	2	2	3	2	1	0	2	4	3	3	3	1	1	0	2	1	1	3	5			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:104335733C>T	ENST00000361820.3	-	9	3671	c.3071G>A	c.(3070-3072)cGa>cAa	p.R1024Q		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1024					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTATTTCCGTCGGTTGTCATG	0.483													66	99					0	0	0	0	T	104335733	C	T	104335733	3	4	230	1	0	0	0	0	1	0	0	0	6833	884	31	1	280	1	GRIN3A	9	104335733	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	5108020	104335733	36877698	54	41897											
ZFP37	7539	broad.mit.edu	37	chr9	115805240	115805240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgagacttttggctaaagGctttcccacattcattacac	10	13	8	10	0	1	1	1	1	0	1	2	2	2	1	1	3	1	2	1	3	3	6			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:115805240G>T	ENST00000374227.3	-	4	1685	c.1658C>A	c.(1657-1659)gCc>gAc	p.A553D	ZFP37_ENST00000553380.1_Missense_Mutation_p.A568D|ZFP37_ENST00000555206.1_Missense_Mutation_p.A554D			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	553						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTGGCTAAAGGCTTTCCCACA	0.383													22	92					1.50039e-11	1.81626e-11	1	0	T	115805240	G	T	115805240	3	4	230	1	0	0	0	0	1	0	0	0	17743	1203	42	4	238	4	ZFP37	9	115805240	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	11469507	115805240	25408191	55	41898											
MEGF9	1955	broad.mit.edu	37	chr9	123384920	123384920	+	Missense_Mutation	SNP	C	C	A																															gggcatcgcaactggcagacCgattattgcattggcagggc																										TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:123384920C>A	ENST00000373930.3	-	3	1028	c.917G>T	c.(916-918)cGg>cTg	p.R306L	MEGF9_ENST00000426959.1_Missense_Mutation_p.R343L	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	306	Laminin EGF-like 3.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						ACTGGCAGACCGATTATTGCA	0.423													12	29					3.41278e-10	4.10043e-10	1	0	A	123384920	C	A	123384920	3	1	230	1	0	0	0	0	1	0	0	0	9533	652	23	3	907	3	MEGF9	9	123384920	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	7579680	123384920	17828511	56	41899	318	2									
MEGF9	1955	broad.mit.edu	37	chr9	123384926	123384926	+	Missense_Mutation	SNP	T	T	G																															cgcaactggcagaccgattaTtgcattggcagggcaagcag																										TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:123384926T>G	ENST00000373930.3	-	3	1022	c.911A>C	c.(910-912)aAt>aCt	p.N304T	MEGF9_ENST00000426959.1_Missense_Mutation_p.N341T	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	304	Laminin EGF-like 3.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						AGACCGATTATTGCATTGGCA	0.423													12	28					0	0	0	0	G	123384926	T	G	123384926	3	3	230	1	0	0	0	0	1	0	0	0	9533	1493	52	5	913	5	MEGF9	9	123384926	Missense_Mutation	SNP	T	TCGA-CV-5439-01A-01D-1683-08	6	123384926	17828505	57	41900	318	2									
NOTCH1	4851	broad.mit.edu	37	chr9	139418287	139418287	+	Silent	SNP	C	C	A																															aggggtgtcaggcagaggggCccagagaagcccagggcaca																										TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:139418287C>A	ENST00000277541.6	-	3	360	c.285G>T	c.(283-285)ggG>ggT	p.G95G	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	95	EGF-like 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCAGAGGGGCCCAGAGAAGC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			10	19					3.86212e-05	4.06406e-05	1	0	A	139418287	C	A	139418287	2	1	230	1	0	0	0	0	0	0	0	1	10617	726	26	4		4	NOTCH1	9	139418287	Silent	SNP	C	TCGA-CV-5439-01A-01D-1683-08	16033361	139418287	1795144	58	41901	319	2									
NOTCH1	4851	broad.mit.edu	37	chr9	139418289	139418289	+	Missense_Mutation	SNP	C	C	A																															gggtgtcaggcagaggggccCagagaagcccagggcacagc																										TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:139418289C>A	ENST00000277541.6	-	3	358	c.283G>T	c.(283-285)Ggg>Tgg	p.G95W	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	95	EGF-like 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGAGGGGCCCAGAGAAGCCC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			10	20					3.86212e-05	4.06406e-05	1	0	A	139418289	C	A	139418289	3	1	230	1	0	0	0	0	1	0	0	0	10617	594	21	4	7512	4	NOTCH1	9	139418289	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	2	139418289	1795142	59	41902	319	2									
MAN1B1	11253	broad.mit.edu	37	chr9	139981560	139981560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcgccaccactgtagtcAtgtacccaccgccgccgccg	6	6	9	20	6	1	0	1	0	0	0	2	0	1	0	8	0	1	2	8	0	2	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:139981560A>G	ENST00000371589.4	+	1	182	c.109A>G	c.(109-111)Atg>Gtg	p.M37V		NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	37					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CACTGTAGTCATGTACCCACC	0.662													7	9					0	0	0	0	G	139981560	A	G	139981560	3	3	230	1	0	0	0	0	1	0	0	0	9281	217	8	5	111	5	MAN1B1	9	139981560	Missense_Mutation	SNP	A	TCGA-CV-5439-01A-01D-1683-08	563271	139981560	1231871	60	41903											
ARHGAP21	57584	broad.mit.edu	37	chr10	24873384	24873384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttactgcctggggtttcaGacagtttatgaggttgggca	7	14	13	7	0	1	2	1	1	0	1	1	2	1	2	1	4	2	4	1	4	2	6			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:24873384G>A	ENST00000396432.2	-	26	6320	c.5834C>T	c.(5833-5835)tCt>tTt	p.S1945F		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1944					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGGGGTTTCAGACAGTTTATG	0.448													41	99					0	0	0	0	A	24873384	G	A	24873384	3	1	230	1	0	0	0	0	1	0	0	0	873	942	33	2	46	2	ARHGAP21	10	24873384	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08		24873384	110661363	61	41904											
ARHGAP21	57584	broad.mit.edu	37	chr10	24955940	24955940	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttccattttcttcatccTacaaatgaaaatatatatat	14	18	2	7	0	2	1	1	1	1	0	4	1	4	1	2	0	1	1	2	0	8	9			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:24955940T>A	ENST00000396432.2	-	4	730		c.e4-2			NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21						signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTCTTCATCCTACAAATGAAA	0.289													3	13					0	0	0	0	A	24955940	T	A	24955940	5	1	230	1	0	0	0	0	0	0	1	0	873	1536	53	5	5726	5	ARHGAP21	10	24955940	Splice_Site	SNP	T	TCGA-CV-5439-01A-01D-1683-08	82556	24955940	110578807	62	41905											
RBP3	5949	broad.mit.edu	37	chr10	48387849	48387849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcacaattccaggaatgCggtccttggcattctcaggg	8	10	13	10	1	1	0	1	0	1	0	4	1	3	1	2	5	1	2	2	5	2	3	rs149031179		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:48387849C>T	ENST00000224600.4	-	1	3142	c.3029G>A	c.(3028-3030)cGc>cAc	p.R1010H		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1010	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.R1010H(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCAGGAATGCGGTCCTTGGC	0.597													4	116					0	0	0	0	T	48387849	C	T	48387849	3	4	230	1	0	0	0	0	1	0	0	0	13239	768	27	1	730	1	RBP3	10	48387849	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	23431909	48387849	87146898	63	41906											
FRMPD2	143162	broad.mit.edu	37	chr10	49393603	49393603	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccctcttaccaaaaccAcgatgtgggtcacgtttcag	10	9	10	12	2	3	0	2	0	1	0	3	2	3	1	3	2	3	1	3	2	3	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:49393603A>G	ENST00000374201.3	-	18	2654	c.2352T>C	c.(2350-2352)cgT>cgC	p.R784R	FRMPD2_ENST00000305531.3_Silent_p.R759R|FRMPD2_ENST00000407470.4_Silent_p.R752R	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	784	PDZ 1.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TACCAAAACCACGATGTGGGT	0.507													17	30					0	0	0	0	G	49393603	A	G	49393603	2	3	230	1	0	0	0	0	0	0	0	1	6106	146	6	5		5	FRMPD2	10	49393603	Silent	SNP	A	TCGA-CV-5439-01A-01D-1683-08	1005754	49393603	86141144	64	41907											
SLC18A3	6572	broad.mit.edu	37	chr10	50819677	50819677	+	Frame_Shift_Del	DEL	G	G	-																															attgccgtggtggccggcgcGctcaccacctgtaacattcc																										TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:50819677delG	ENST00000374115.3	+	1	1331	c.891delG	c.(889-891)gcfs	p.A297fs	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	297					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGGCCGGCGCGCTCACCACCT	0.642													23	58	---	---	---	---					-	50819677	G	-	50819677	7	5	230	1	0	1	0	1	0	0	0	0	14515	1074	38	0	893	0	SLC18A3	10	50819677	Frame_Shift_Del	DEL	G	TCGA-CV-5439-01A-01D-1683-08	1426074	50819677	84715070	65	41908											
USP54	159195	broad.mit.edu	37	chr10	75335341	75335341	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgctgggggctatggAggttgagcttcgaggtgcaa	6	11	17	7	1	0	1	0	1	0	0	1	3	0	2	1	5	3	5	1	5	2	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:75335341A>T	ENST00000339859.4	-	2	176	c.76T>A	c.(76-78)Tcc>Acc	p.S26T	USP54_ENST00000408019.1_Missense_Mutation_p.S26T|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.S26T|USP54_ENST00000319786.7_Missense_Mutation_p.S26T			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	26					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGGGCTATGGAGGTTGAGCTT	0.458													22	37					0	0	0	0	T	75335341	A	T	75335341	3	4	230	1	0	0	0	0	1	0	0	0	17181	304	11	5	5066	5	USP54	10	75335341	Missense_Mutation	SNP	A	TCGA-CV-5439-01A-01D-1683-08	24515664	75335341	60199406	66	41909											
STK33	65975	broad.mit.edu	37	chr11	8474394	8474394	+	Frame_Shift_Del	DEL	G	G	-																															tagataggagtcccacatgtGgcctgcagcatggcttcact																										TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:8474394delG	ENST00000447869.1	-	7	1764	c.846delC	c.(844-846)gcfs	p.A282fs	STK33_ENST00000358872.3_Frame_Shift_Del_p.A95fs|STK33_ENST00000396673.1_Frame_Shift_Del_p.A282fs|STK33_ENST00000396672.1_Frame_Shift_Del_p.A282fs|STK33_ENST00000315204.1_Frame_Shift_Del_p.A282fs|STK33_ENST00000534493.1_Frame_Shift_Del_p.A241fs|STK33_ENST00000473980.1_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	282	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TCCCACATGTGGCCTGCAGCA	0.453													49	98	---	---	---	---					-	8474394	G	-	8474394	7	5	230	1	0	1	0	1	0	0	0	0	15390	1335	47	0	722	0	STK33	11	8474394	Frame_Shift_Del	DEL	G	TCGA-CV-5439-01A-01D-1683-08		8474394	126532122	67	41910											
MICALCL	84953	broad.mit.edu	37	chr11	12379876	12379876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaaggatctaaacgaagaGcaagaagtattcaccgagct	17	6	11	7	2	2	3	1	0	1	3	2	7	2	4	1	1	3	3	1	1	7	3			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:12379876G>T	ENST00000256186.2	+	9	2229	c.1938G>T	c.(1936-1938)gaG>gaT	p.E646D		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	646					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TAAACGAAGAGCAAGAAGTAT	0.473													31	94					5.45727e-16	6.91827e-16	1	0	T	12379876	G	T	12379876	3	4	230	1	0	0	0	0	1	0	0	0	9641	962	34	4	1968	4	MICALCL	11	12379876	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	3905482	12379876	122626640	68	41911											
LRRC4C	57689	broad.mit.edu	37	chr11	40136107	40136107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggctttccatgggtGtgtctcccgtaatctcatca	6	13	11	11	1	3	0	2	0	2	0	6	0	4	0	2	3	0	3	2	3	1	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:40136107G>T	ENST00000278198.2	-	2	3699	c.1736C>A	c.(1735-1737)aCa>aAa	p.T579K	LRRC4C_ENST00000530763.1_Missense_Mutation_p.T579K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T579K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.T579K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	579					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTCCATGGGTGTGTCTCCCGT	0.448													31	73					1.55811e-20	2.02303e-20	1	0	T	40136107	G	T	40136107	3	4	230	1	0	0	0	0	1	0	0	0	9072	1377	48	4	190	4	LRRC4C	11	40136107	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	27756231	40136107	94870409	69	41912											
OR8J1	219477	broad.mit.edu	37	chr11	56128169	56128169	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctggtctccctcacataCctctatggcttttctacagc	6	14	6	15	0	4	0	1	0	3	0	5	0	4	0	2	2	4	2	2	2	3	5	rs141638344		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:56128169C>T	ENST00000303039.3	+	1	479	c.447C>T	c.(445-447)taC>taT	p.Y149Y		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CCCTCACATACCTCTATGGCT	0.433													28	45					0	0	0	0	T	56128169	C	T	56128169	2	4	230	1	0	0	0	0	0	0	0	1	11312	518	18	4		4	OR8J1	11	56128169	Silent	SNP	C	TCGA-CV-5439-01A-01D-1683-08	15992062	56128169	78878347	70	41913											
PC	5091	broad.mit.edu	37	chr11	66617739	66617739	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccacataggccttcttGacctccttgaacttggagcc	7	11	8	15	0	1	2	0	2	1	0	3	3	3	3	6	2	2	0	6	2	2	5			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:66617739G>T	ENST00000393960.1	-	19	2951	c.2670C>A	c.(2668-2670)gtC>gtA	p.V890V	PC_ENST00000529047.1_Silent_p.V10V|PC_ENST00000393955.2_Silent_p.V890V|PC_ENST00000393958.2_Silent_p.V890V	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	890					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGGCCTTCTTGACCTCCTTGA	0.597													8	36					2.17888e-05	2.32317e-05	1	0	T	66617739	G	T	66617739	2	4	230	1	0	0	0	0	0	0	0	1	11568	1277	45	2		2	PC	11	66617739	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08	10489570	66617739	68388777	71	41914											
FOLH1B	219595	broad.mit.edu	37	chr11	89421766	89421766	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	taaaaggataagcaaattggGatctggaaatgattttgagg	16	11	12	2	0	1	2	0	2	1	0	1	5	1	5	0	4	1	1	0	4	5	5			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:89421766G>C	ENST00000532352.1	+	0	1436							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGCAAATTGGGATCTGGAAAT	0.333													24	52					0	0	0	0	C	89421766	G	C	89421766	1	2	230	0	1	0	0	0	0	0	0	0	6025	1174	41	2		2	FOLH1B	11	89421766	RNA	SNP	G	TCGA-CV-5439-01A-01D-1683-08	22804027	89421766	45584750	72	41915											
KBTBD3	143879	broad.mit.edu	37	chr11	105923992	105923992	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcattgtatttaaaaaagCaatcaagtgatgggttaaaa	18	12	8	3	0	1	1	1	1	0	0	1	1	1	1	0	1	2	4	0	1	9	6			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:105923992C>A	ENST00000526793.1	-	3	1583	c.1424G>T	c.(1423-1425)tGc>tTc	p.C475F	KBTBD3_ENST00000531837.1_Missense_Mutation_p.C475F|KBTBD3_ENST00000534815.1_Missense_Mutation_p.C396F	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	471										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TTTAAAAAAGCAATCAAGTGA	0.358													12	28					5.50884e-06	5.9525e-06	1	0	A	105923992	C	A	105923992	3	1	230	1	0	0	0	0	1	0	0	0	8047	710	25	4	418	4	KBTBD3	11	105923992	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	16502226	105923992	29082524	73	41916											
USP28	57646	broad.mit.edu	37	chr11	113711431	113711431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctccccagacttcacaGcgttttctctttgagcgttt	5	18	6	12	2	3	2	1	1	2	1	5	2	3	2	2	0	2	2	2	0	0	7			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:113711431G>A	ENST00000003302.4	-	5	491	c.423C>T	c.(421-423)cgC>cgT	p.R141R	USP28_ENST00000260188.5_Silent_p.R141R|USP28_ENST00000545540.1_Silent_p.R16R|USP28_ENST00000537706.1_Silent_p.R141R|USP28_ENST00000542033.1_5'UTR	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	141					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGACTTCACAGCGTTTTCTCT	0.428													17	36					0	0	0	0	A	113711431	G	A	113711431	2	1	230	1	0	0	0	0	0	0	0	1	17154	958	34	4		4	USP28	11	113711431	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08	7787439	113711431	21295085	74	41917											
CEP164	22897	broad.mit.edu	37	chr11	117280412	117280412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagatcagcagccagctgaGcagtgtcctcagcatcctgg	9	7	12	13	0	2	2	2	1	0	1	4	2	4	2	3	1	5	5	3	1	0	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:117280412G>T	ENST00000278935.3	+	30	3974	c.3827G>T	c.(3826-3828)aGc>aTc	p.S1276I	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1276					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGCCAGCTGAGCAGTGTCCTC	0.642													52	100					1.54043e-34	2.08412e-34	1	0	T	117280412	G	T	117280412	3	4	230	1	0	0	0	0	1	0	0	0	3278	971	34	4	3937	4	CEP164	11	117280412	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	3568981	117280412	17726104	75	41918											
SIAE	54414	broad.mit.edu	37	chr11	124519604	124519604	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggaggcgatcagcccGatgggatactgcagagtgtc	9	7	15	10	2	1	1	1	0	0	1	2	5	1	3	1	3	4	2	1	3	1	1			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:124519604G>T	ENST00000263593.3	-	5	805	c.633C>A	c.(631-633)atC>atA	p.I211I	SIAE_ENST00000545756.1_Silent_p.I176I			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	211						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CGATCAGCCCGATGGGATACT	0.522													34	84					1.36615e-20	1.78821e-20	1	0	T	124519604	G	T	124519604	2	4	230	1	0	0	0	0	0	0	0	1	14386	1048	37	3		3	SIAE	11	124519604	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08	7239192	124519604	10486912	76	41919											
FEZ1	9638	broad.mit.edu	37	chr11	125359582	125359582	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggtggggagatgaaccaTagaaacactggggcttctcc	11	8	14	8	0	1	3	0	1	1	2	2	5	1	3	2	5	2	1	2	5	3	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:125359582T>C	ENST00000278919.3	-	2	326	c.92A>G	c.(91-93)tAt>tGt	p.Y31C	FEZ1_ENST00000524435.1_Missense_Mutation_p.Y31C|FEZ1_ENST00000366139.3_Missense_Mutation_p.Y31C	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	31					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		AGATGAACCATAGAAACACTG	0.532													23	71					0	0	0	0	C	125359582	T	C	125359582	3	2	230	1	0	0	0	0	1	0	0	0	5868	1406	49	5	1126	5	FEZ1	11	125359582	Missense_Mutation	SNP	T	TCGA-CV-5439-01A-01D-1683-08	839978	125359582	9646934	77	41920											
KCNJ5	3762	broad.mit.edu	37	chr11	128781856	128781856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccgcaactcccacatcGtggaggcctccatccgggcc	7	6	9	19	3	0	0	0	0	0	0	5	1	4	1	7	3	1	1	7	3	1	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:128781856G>A	ENST00000529694.1	+	2	1064	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	KCNJ5_ENST00000533599.1_Missense_Mutation_p.V230M|KCNJ5_ENST00000338350.4_Missense_Mutation_p.V230M	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	230					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CTCCCACATCGTGGAGGCCTC	0.592													16	65					0	0	0	0	A	128781856	G	A	128781856	3	1	230	1	0	0	0	0	1	0	0	0	8107	1145	40	1	690	1	KCNJ5	11	128781856	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	3422274	128781856	6224660	78	41921											
EFCAB4B	84766	broad.mit.edu	37	chr12	3763444	3763444	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgctgctgagcatccTggagctcccaggaagtccgc	8	7	11	15	1	0	1	0	1	0	0	3	3	3	3	4	2	5	4	4	2	2	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:3763444T>A	ENST00000440314.2	-	10	1453	c.980A>T	c.(979-981)cAg>cTg	p.Q327L	EFCAB4B_ENST00000252322.1_Missense_Mutation_p.Q327L|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.Q327L	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	327					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CTGAGCATCCTGGAGCTCCCA	0.557													17	34					0	0	0	0	A	3763444	T	A	3763444	3	1	230	1	0	0	0	0	1	0	0	0	4973	1580	55	5	1451	5	EFCAB4B	12	3763444	Missense_Mutation	SNP	T	TCGA-CV-5439-01A-01D-1683-08		3763444	130088451	79	41922											
LRP6	4040	broad.mit.edu	37	chr12	12337036	12337036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccattgtcaattccacatGgatttgtggctgtcaaatat	10	14	7	10	0	2	0	2	0	0	0	3	1	3	1	3	2	0	1	3	2	3	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:12337036G>A	ENST00000261349.4	-	5	930	c.854C>T	c.(853-855)cCa>cTa	p.P285L	LRP6_ENST00000543091.1_Missense_Mutation_p.P285L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	285	EGF-like 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AATTCCACATGGATTTGTGGC	0.393													10	38					0	0	0	0	A	12337036	G	A	12337036	3	1	230	1	0	0	0	0	1	0	0	0	9026	1348	47	4	4063	4	LRP6	12	12337036	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	8573592	12337036	121514859	80	41923											
ARHGDIB	397	broad.mit.edu	37	chr12	15103494	15103494	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggaccatctcccagcagCgttttcttgtacttaattag	10	13	7	11	1	2	0	0	0	2	0	3	1	2	1	2	1	3	3	2	1	3	6			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:15103494C>A	ENST00000228945.4	-	2	297	c.153G>T	c.(151-153)acG>acT	p.T51T	ARHGDIB_ENST00000541546.1_Silent_p.T51T|ARHGDIB_ENST00000541644.1_Silent_p.T51T	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	51					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						CTCCCAGCAGCGTTTTCTTGT	0.483													21	85					1.10923e-09	1.30355e-09	1	0	A	15103494	C	A	15103494	2	1	230	1	0	0	0	0	0	0	0	1	893	755	27	3		3	ARHGDIB	12	15103494	Silent	SNP	C	TCGA-CV-5439-01A-01D-1683-08	2766458	15103494	118748401	81	41924											
MGST1	4257	broad.mit.edu	37	chr12	16516968	16516968	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgctgaaaagtaaattgtAcctgtaaagaaaatcataca	18	11	7	5	0	1	2	1	1	0	1	1	2	1	2	1	0	3	5	1	0	10	6			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:16516968A>G	ENST00000396209.1	+	4	604	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	MGST1_ENST00000540056.1_3'UTR|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000396207.1_Missense_Mutation_p.Y154C|MGST1_ENST00000010404.2_Missense_Mutation_p.Y154C|MGST1_ENST00000396210.3_Missense_Mutation_p.Y154C	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	154					protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	AGTAAATTGTACCTGTAAAGA	0.358													14	29					0	0	0	0	G	16516968	A	G	16516968	3	3	230	1	0	0	0	0	1	0	0	0	9629	391	14	5	471	5	MGST1	12	16516968	Missense_Mutation	SNP	A	TCGA-CV-5439-01A-01D-1683-08	1413474	16516968	117334927	82	41925											
KCNH3	23416	broad.mit.edu	37	chr12	49943928	49943928	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcacaaggaggtcctGcagctgccactgtttgaggc	8	8	12	13	0	0	1	0	1	0	0	1	2	1	2	3	3	4	4	3	3	1	1			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:49943928G>A	ENST00000257981.6	+	10	1994	c.1734G>A	c.(1732-1734)ctG>ctA	p.L578L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	578					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGGAGGTCCTGCAGCTGCCAC	0.701													13	23					0	0	0	0	A	49943928	G	A	49943928	2	1	230	1	0	0	0	0	0	0	0	1	8086	1306	46	4		4	KCNH3	12	49943928	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08	33426960	49943928	83907967	83	41926											
KRT77	374454	broad.mit.edu	37	chr12	53086203	53086203	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacacagctgccagacccAcctgctctcctcgccctcca	9	6	6	20	1	1	1	0	0	1	1	4	2	2	1	6	0	4	2	6	0	1	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:53086203A>G	ENST00000341809.3	-	7	1456		c.e7+1		KRT77_ENST00000537195.1_Splice_Site	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77							keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGCCAGACCCACCTGCTCTCC	0.592													9	30					0	0	0	0	G	53086203	A	G	53086203	5	3	230	1	0	0	0	0	0	0	1	0	8542	173	6	5	319	5	KRT77	12	53086203	Splice_Site	SNP	A	TCGA-CV-5439-01A-01D-1683-08	3142275	53086203	80765692	84	41927											
ITGA7	3679	broad.mit.edu	37	chr12	56089326	56089326	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcagaggttggaattcCgtgtcgctgacccgggtaca	8	9	15	9	3	0	2	0	1	0	1	2	3	1	3	2	4	1	4	2	4	2	3			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:56089326C>T	ENST00000257880.7	-	15	2334	c.2115G>A	c.(2113-2115)acG>acA	p.T705T	ITGA7_ENST00000452168.2_Silent_p.T568T|ITGA7_ENST00000555728.1_Silent_p.T705T|ITGA7_ENST00000394230.2_Silent_p.T665T|ITGA7_ENST00000347027.6_Silent_p.T655T|ITGA7_ENST00000394229.2_Silent_p.T661T|ITGA7_ENST00000553804.1_Silent_p.T665T|ITGA7_ENST00000257879.6_Silent_p.T661T			Q13683	ITA7_HUMAN	integrin, alpha 7	705					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTTGGAATTCCGTGTCGCTGA	0.597													14	85					0	0	0	0	T	56089326	C	T	56089326	2	4	230	1	0	0	0	0	0	0	0	1	7934	639	23	1		1	ITGA7	12	56089326	Silent	SNP	C	TCGA-CV-5439-01A-01D-1683-08	3003123	56089326	77762569	85	41928											
TIMELESS	8914	broad.mit.edu	37	chr12	56827878	56827878	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagcaatctggttccttaTggtaagtgtctccctccaag	9	13	8	11	0	2	0	0	0	2	0	5	0	4	0	3	2	1	3	3	2	5	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:56827878T>A	ENST00000229201.4	-	2	231	c.77A>T	c.(76-78)cAt>cTt	p.H26L	TIMELESS_ENST00000553532.1_Missense_Mutation_p.H26L|TIMELESS_ENST00000554616.1_Missense_Mutation_p.H26L	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	26					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGGTTCCTTATGGTAAGTGTC	0.438													14	36					0	0	0	0	A	56827878	T	A	56827878	3	1	230	1	0	0	0	0	1	0	0	0	15998	1464	51	5	3661	5	TIMELESS	12	56827878	Missense_Mutation	SNP	T	TCGA-CV-5439-01A-01D-1683-08	738552	56827878	77024017	86	41929											
SLC17A8	246213	broad.mit.edu	37	chr12	100774536	100774536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagctgaatgaagaaggaagGccggtgcagacgtccaggcc	12	4	16	9	2	0	4	0	2	0	2	1	6	1	5	3	4	2	2	3	4	4	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:100774536G>T	ENST00000323346.5	+	2	472	c.159G>T	c.(157-159)agG>agT	p.R53S	SLC17A8_ENST00000392989.3_Missense_Mutation_p.R53S	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	53					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AAGAAGGAAGGCCGGTGCAGA	0.502													17	128					2.94398e-08	3.29154e-08	1	0	T	100774536	G	T	100774536	3	4	230	1	0	0	0	0	1	0	0	0	14511	1194	42	4	165	4	SLC17A8	12	100774536	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	43946658	100774536	33077359	87	41930											
ASCL1	429	broad.mit.edu	37	chr12	103352676	103352676	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactcgtcggacgagggctcTtacgacccgctcagccccga	7	7	11	16	6	2	0	1	0	1	0	4	4	2	1	3	2	3	2	3	2	2	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:103352676T>C	ENST00000266744.3	+	1	1213	c.654T>C	c.(652-654)tcT>tcC	p.S218S		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	218					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						ACGAGGGCTCTTACGACCCGC	0.627													13	36					0	0	0	0	C	103352676	T	C	103352676	2	2	230	1	0	0	0	0	0	0	0	1	1038	1596	56	5		5	ASCL1	12	103352676	Silent	SNP	T	TCGA-CV-5439-01A-01D-1683-08	2578140	103352676	30499219	88	41931											
TRPV4	59341	broad.mit.edu	37	chr12	110246113	110246113	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcacctcgaaactcctCatcagttaggcgtttcttgt	7	14	8	12	2	4	0	3	0	1	0	6	1	5	0	2	2	1	3	2	2	2	3			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:110246113C>A	ENST00000418703.2	-	2	641	c.547G>T	c.(547-549)Gag>Tag	p.E183*	TRPV4_ENST00000392719.2_Nonsense_Mutation_p.E183*|TRPV4_ENST00000346520.2_Nonsense_Mutation_p.E183*|TRPV4_ENST00000261740.2_Nonsense_Mutation_p.E183*|TRPV4_ENST00000544971.1_Nonsense_Mutation_p.E183*|TRPV4_ENST00000541794.1_Nonsense_Mutation_p.E183*|TRPV4_ENST00000536838.1_Nonsense_Mutation_p.E149*|TRPV4_ENST00000537083.1_Nonsense_Mutation_p.E183*	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	183			E -> K (found in a patient with spondyloepiphyseal dysplasia Maroteaux type).		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CGAAACTCCTCATCAGTTAGG	0.612													6	24					2.0095e-06	2.18601e-06	1	0	A	110246113	C	A	110246113	4	1	230	1	0	0	0	0	0	1	0	0	16693	835	29	2	2124	2	TRPV4	12	110246113	Nonsense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	6893437	110246113	23605782	89	41932											
MRPL52	122704	broad.mit.edu	37	chr14	23299461	23299461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcccagactggtcatatgCgggtaagcgctgatctggca	8	9	13	11	2	2	2	1	1	1	1	3	2	3	2	1	3	2	4	1	3	2	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr14:23299461C>T	ENST00000355151.5	+	3	185	c.155C>T	c.(154-156)gCg>gTg	p.A52V	MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000557221.1_Missense_Mutation_p.R2W|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000397505.2_Missense_Mutation_p.A52V|MRPL52_ENST00000397496.3_Missense_Mutation_p.A51V|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000432849.3_Missense_Mutation_p.A51V|MRPL52_ENST00000553711.1_5'UTR	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	52					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TGGTCATATGCGGGTAAGCGC	0.602													5	98					0	0	0	0	T	23299461	C	T	23299461	3	4	230	1	0	0	0	0	1	0	0	0	9886	768	27	1	165	1	MRPL52	14	23299461	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08		23299461	84050079	90	41933											
DACT1	51339	broad.mit.edu	37	chr14	59112773	59112773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggggagtcccctaaggaaAgcgctcagctctcaggggcc	9	5	14	13	1	2	0	2	0	1	0	4	2	3	2	3	5	2	2	3	5	2	1			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr14:59112773A>G	ENST00000395153.3	+	4	1468	c.1321A>G	c.(1321-1323)Agc>Ggc	p.S441G	DACT1_ENST00000395151.3_Missense_Mutation_p.S197G|DACT1_ENST00000556859.1_Missense_Mutation_p.S197G|DACT1_ENST00000541264.2_Missense_Mutation_p.S197G|DACT1_ENST00000335867.4_Missense_Mutation_p.S478G	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	478					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCCTAAGGAAAGCGCTCAGCT	0.577													100	47					0	0	0	0	G	59112773	A	G	59112773	3	3	230	1	0	0	0	0	1	0	0	0	4255	72	3	5	1446	5	DACT1	14	59112773	Missense_Mutation	SNP	A	TCGA-CV-5439-01A-01D-1683-08	35813312	59112773	48236767	91	41934											
RYR3	6263	broad.mit.edu	37	chr15	33895352	33895352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacatcttcctgggagtcGcggagggctcagcccagtac	9	7	12	13	2	2	0	1	0	1	0	4	2	3	2	2	3	3	2	2	3	2	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr15:33895352G>A	ENST00000389232.4	+	18	2021	c.1951G>A	c.(1951-1953)Gcg>Acg	p.A651T	RYR3_ENST00000415757.3_Missense_Mutation_p.A651T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	651	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGGGAGTCGCGGAGGGCTC	0.527													19	105					0	0	0	0	A	33895352	G	A	33895352	3	1	230	1	0	0	0	0	1	0	0	0	13855	1087	38	1	2021	1	RYR3	15	33895352	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08		33895352	68636040	92	41935											
UNC13C	440279	broad.mit.edu	37	chr15	54786889	54786889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttttataatgaatatgtgCgtgaacttcctgccttcaag	10	15	9	7	1	1	2	1	2	0	0	2	2	2	2	2	1	3	1	2	1	6	6			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr15:54786889C>T	ENST00000545554.1	+	19	5017	c.5017C>T	c.(5017-5019)Cgt>Tgt	p.R1673C	UNC13C_ENST00000537900.1_Missense_Mutation_p.R1671C|UNC13C_ENST00000260323.11_Missense_Mutation_p.R1673C			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1673	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGAATATGTGCGTGAACTTCC	0.338													6	104					0	0	0	0	T	54786889	C	T	54786889	3	4	230	1	0	0	0	0	1	0	0	0	17082	768	27	1	5087	1	UNC13C	15	54786889	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	20891537	54786889	47744503	93	41936											
ALPK3	57538	broad.mit.edu	37	chr15	85405961	85405961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttgggcgactggtaagcGaggagctccgagggggtgga	7	8	19	7	3	1	0	0	0	1	0	2	5	2	2	1	6	2	2	1	6	1	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr15:85405961G>A	ENST00000258888.5	+	10	4998	c.4831G>A	c.(4831-4833)Gag>Aag	p.E1611K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1611	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACTGGTAAGCGAGGAGCTCCG	0.597													18	20					0	0	0	0	A	85405961	G	A	85405961	3	1	230	1	0	0	0	0	1	0	0	0	546	1059	37	1	4869	1	ALPK3	15	85405961	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	30619072	85405961	17125431	94	41937											
GRIN2A	2903	broad.mit.edu	37	chr16	9857484	9857484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttatgctccgggagggcCtgctaaggtctagctcccta	6	10	13	12	1	1	0	0	0	1	0	3	1	3	1	3	4	3	4	3	4	4	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:9857484C>A	ENST00000396573.2	-	14	4226	c.3917G>T	c.(3916-3918)aGg>aTg	p.R1306M	GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1306M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1306M|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1306					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCGGGAGGGCCTGCTAAGGTC	0.493													39	101					6.2361e-21	8.22961e-21	1	0	A	9857484	C	A	9857484	3	1	230	1	0	0	0	0	1	0	0	0	6829	681	24	4	481	4	GRIN2A	16	9857484	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08		9857484	80497269	95	41938											
KIAA0430	9665	broad.mit.edu	37	chr16	15729832	15729832	+	Frame_Shift_Del	DEL	C	C	-																															tgggaaagtcacttgcaatgCctgccaaattgttcctagct																										TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:15729832delC	ENST00000396368.3	-	3	718	c.512delG	c.(511-513)gcfs	p.G171fs	KIAA0430_ENST00000602337.1_Frame_Shift_Del_p.G171fs|KIAA0430_ENST00000551742.1_Frame_Shift_Del_p.G171fs|KIAA0430_ENST00000548025.1_Frame_Shift_Del_p.G171fs|KIAA0430_ENST00000540441.2_Frame_Shift_Del_p.G171fs|KIAA0430_ENST00000344181.3_5'UTR	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	170						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ACTTGCAATGCCTGCCAAATT	0.498													60	110	---	---	---	---					-	15729832	C	-	15729832	7	5	230	1	0	1	0	1	0	0	0	0	8228	739	26	0	4819	0	KIAA0430	16	15729832	Frame_Shift_Del	DEL	C	TCGA-CV-5439-01A-01D-1683-08	5872348	15729832	74624921	96	41939											
NLRC5	84166	broad.mit.edu	37	chr16	57111883	57111883	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgccctgggggatcccAcagccctggggctggctcag	6	6	15	14	0	1	0	1	0	0	0	2	1	2	1	3	5	2	3	3	5	1	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:57111883A>T	ENST00000262510.6	+	43	5257	c.5032A>T	c.(5032-5034)Aca>Tca	p.T1678S	NLRC5_ENST00000539144.1_Missense_Mutation_p.T1649S|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.T1649S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1678					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGGGGATCCCACAGCCCTGGG	0.672													7	30					0	0	0	0	T	57111883	A	T	57111883	3	4	230	1	0	0	0	0	1	0	0	0	10540	159	6	5	5194	5	NLRC5	16	57111883	Missense_Mutation	SNP	A	TCGA-CV-5439-01A-01D-1683-08	41382051	57111883	33242870	97	41940											
CDH3	1001	broad.mit.edu	37	chr16	68716358	68716358	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccatcaccacccaccctGagagcaaccagggcatcctg	11	6	7	17	0	1	1	1	1	0	1	2	2	2	1	6	1	3	2	6	1	2	1			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:68716358G>T	ENST00000264012.4	+	9	1694	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*	CDH3_ENST00000429102.2_Nonsense_Mutation_p.E384*|CDH3_ENST00000581171.1_Nonsense_Mutation_p.E329*	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	384	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CACCCACCCTGAGAGCAACCA	0.592													19	52					3.62473e-10	4.32283e-10	1	0	T	68716358	G	T	68716358	4	4	230	1	0	0	0	0	0	1	0	0	3140	1291	45	2	1184	2	CDH3	16	68716358	Nonsense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	11604475	68716358	21638395	98	41941											
ATP2C2	9914	broad.mit.edu	37	chr16	84438840	84438840	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaacctgtgtggaagaaatAcctggatcaggtaggaccag	13	7	13	8	1	1	1	1	0	0	1	1	5	1	4	3	4	2	1	3	4	5	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:84438840A>G	ENST00000416219.2	+	3	406	c.317A>G	c.(316-318)tAc>tGc	p.Y106C	ATP2C2_ENST00000262429.4_Missense_Mutation_p.Y106C			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	106					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGGAAGAAATACCTGGATCAG	0.527													6	28					0	0	0	0	G	84438840	A	G	84438840	3	3	230	1	0	0	0	0	1	0	0	0	1148	391	14	5	327	5	ATP2C2	16	84438840	Missense_Mutation	SNP	A	TCGA-CV-5439-01A-01D-1683-08	15722482	84438840	5915913	99	41942											
TP53	7157	broad.mit.edu	37	chr17	7576896	7576897	+	Frame_Shift_Ins	INS	-	-	G																															cagtggtttcttctttggctINSggggagaggagctggtgttg																										TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:7576896_7576897insG	ENST00000420246.2	-	9	1081_1082	c.949_950insC	c.(949-951)gccfs	p.A317fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.A317fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.A317fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.A317fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.A317fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	317	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.Q317R(2)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317P(1)|p.Q317fs*28(1)|p.Q317fs*45(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTCTTTGGCTGGGGAGAGGAG	0.47		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	34	---	---	---	---					G	7576897	-	G	7576896	7	5	230	1	0	1	1	0	0	0	0	0	16476	1580	55	0	332	0	TP53	17	7576896	Frame_Shift_Ins	INS	-	TCGA-CV-5439-01A-01D-1683-08		7576896	73618314	100	41943											
MYH3	4621	broad.mit.edu	37	chr17	10555773	10555773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaacggtccttcaggttGtacagcacggctggctcatt	7	12	12	10	2	2	0	2	0	0	0	3	0	3	0	1	4	3	6	1	4	2	5			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:10555773G>A	ENST00000583535.1	-	4	399	c.312C>T	c.(310-312)taC>taT	p.Y104Y	MYH3_ENST00000226209.7_Silent_p.Y104Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	104	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTTCAGGTTGTACAGCACGG	0.557													28	23					0	0	0	0	A	10555773	G	A	10555773	2	1	230	1	0	0	0	0	0	0	0	1	10106	1372	48	4		4	MYH3	17	10555773	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08	2978877	10555773	70639437	101	41944											
ITGA2B	3674	broad.mit.edu	37	chr17	42458334	42458334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggctgtccaggacctGggagggacgtgacctcagcc	8	5	17	11	1	1	1	1	1	0	0	2	5	2	4	4	5	1	1	4	5	1	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:42458334G>T	ENST00000262407.5	-	13	1337	c.1306C>A	c.(1306-1308)Cag>Aag	p.Q436K	ITGA2B_ENST00000353281.4_Missense_Mutation_p.Q436K|ITGA2B_ENST00000377068.3_Missense_Mutation_p.Q121K	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	436					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TCCAGGACCTGGGAGGGACGT	0.642													30	66					3.00307e-07	3.3116e-07	1	0	T	42458334	G	T	42458334	3	4	230	1	0	0	0	0	1	0	0	0	7929	1357	47	4	1885	4	ITGA2B	17	42458334	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	31902561	42458334	38736876	102	41945											
KIF2B	84643	broad.mit.edu	37	chr17	51901024	51901024	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtcctggagcccccgcaAgaacatcgcatctgcgtctg	8	8	10	15	3	3	1	1	0	2	1	5	2	4	2	3	1	3	2	3	1	2	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:51901024A>T	ENST00000268919.4	+	1	786	c.630A>T	c.(628-630)caA>caT	p.Q210H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	210	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCCCCCGCAAGAACATCGCA	0.537													12	23					0	0	0	0	T	51901024	A	T	51901024	3	4	230	1	0	0	0	0	1	0	0	0	8349	69	3	5	632	5	KIF2B	17	51901024	Missense_Mutation	SNP	A	TCGA-CV-5439-01A-01D-1683-08	9442690	51901024	29294186	103	41946											
ABCA9	10350	broad.mit.edu	37	chr17	67031933	67031933	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagccagcatacatcaaaccCcaggaaagcctagcagagaa	18	3	8	12	0	1	1	1	0	0	1	1	3	1	2	4	1	6	2	4	1	6	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:67031933C>T	ENST00000340001.4	-	7	1021	c.810G>A	c.(808-810)tgG>tgA	p.W270*	ABCA9_ENST00000453985.2_Nonsense_Mutation_p.W270*|ABCA9_ENST00000370732.2_Nonsense_Mutation_p.W270*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	270					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ACATCAAACCCCAGGAAAGCC	0.403													10	14					0	0	0	0	T	67031933	C	T	67031933	4	4	230	1	0	0	0	0	0	1	0	0	39	624	22	4	4196	4	ABCA9	17	67031933	Nonsense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	15130909	67031933	14163277	104	41947											
PLEKHJ1	55111	broad.mit.edu	37	chr19	2233901	2233901	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatgccgaactgttccagggGgtcctgtggggaggacgggt	6	9	18	8	2	0	0	0	0	0	0	2	3	2	2	3	6	2	1	3	6	2	2			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:2233901G>C	ENST00000589097.1	-	7	1501	c.388C>G	c.(388-390)Ccc>Gcc	p.P130A	PLEKHJ1_ENST00000587394.1_Intron|PLEKHJ1_ENST00000326631.2_Missense_Mutation_p.P130A|PLEKHJ1_ENST00000588545.1_Missense_Mutation_p.P111A|PLEKHJ1_ENST00000586608.1_Missense_Mutation_p.P131A|PLEKHJ1_ENST00000591099.1_3'UTR|PLEKHJ1_ENST00000587962.1_Silent_p.T160T|PLEKHJ1_ENST00000589791.1_5'UTR			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	130							protein binding			endometrium(1)|kidney(1)	2				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)		TGTTCCAGGGGGTCCTGTGGG	0.692													8	29					0	0	0	0	C	2233901	G	C	2233901	3	2	230	1	0	0	0	0	1	0	0	0	12151	1232	43	4	65	4	PLEKHJ1	19	2233901	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08		2233901	56895082	105	41948											
ZNF561	93134	broad.mit.edu	37	chr19	9721791	9721791	+	Silent	SNP	T	T	A																															tcaagatgtacagcaagaccTggagttagagtaaagacttt																										TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:9721791T>A	ENST00000302851.3	-	6	909	c.546A>T	c.(544-546)ccA>ccT	p.P182P	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000424629.1_Silent_p.P113P|ZNF561_ENST00000354661.4_Silent_p.P46P	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CAGCAAGACCTGGAGTTAGAG	0.388													11	42					0	0	0	0	A	9721791	T	A	9721791	2	1	230	1	0	0	0	0	0	0	0	1	18087	1567	55	5		5	ZNF561	19	9721791	Silent	SNP	T	TCGA-CV-5439-01A-01D-1683-08	7487890	9721791	49407192	106	41949	320	2									
ZNF561	93134	broad.mit.edu	37	chr19	9721793	9721793	+	Missense_Mutation	SNP	G	G	A																															aagatgtacagcaagacctgGagttagagtaaagacttttc																										TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:9721793G>A	ENST00000302851.3	-	6	907	c.544C>T	c.(544-546)Cca>Tca	p.P182S	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.P113S|ZNF561_ENST00000354661.4_Missense_Mutation_p.P46S	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GCAAGACCTGGAGTTAGAGTA	0.388													11	43					0	0	0	0	A	9721793	G	A	9721793	3	1	230	1	0	0	0	0	1	0	0	0	18087	1174	41	2	920	2	ZNF561	19	9721793	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	2	9721793	49407190	107	41950	320	2									
DCAF15	90379	broad.mit.edu	37	chr19	14069909	14069909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcacctgccccctggcGcctgccagcccccctgagcc	5	4	9	23	1	0	1	0	1	0	0	0	1	0	1	9	1	5	1	9	1	0	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:14069909G>A	ENST00000254337.6	+	7	858	c.837G>A	c.(835-837)gcG>gcA	p.A279A		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	279										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCCCCCTGGCGCCTGCCAGCC	0.657													142	40					0	0	0	0	A	14069909	G	A	14069909	2	1	230	1	0	0	0	0	0	0	0	1	4300	1074	38	1		1	DCAF15	19	14069909	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08	4348116	14069909	45059074	108	41951											
CYP4F2	8529	broad.mit.edu	37	chr19	16003194	16003194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatggaaggcaggcgtcagCatccgacggtggcggctcca	10	5	15	11	4	1	0	1	0	0	0	3	2	3	1	2	6	1	3	2	6	2	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:16003194C>T	ENST00000221700.5	-	5	545	c.450G>A	c.(448-450)atG>atA	p.M150I	CYP4F2_ENST00000011989.7_Start_Codon_SNP_p.M1I|CYP4F2_ENST00000592328.1_Missense_Mutation_p.M150I	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	150					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGGCGTCAGCATCCGACGGT	0.562													35	46					0	0	0	0	T	16003194	C	T	16003194	3	4	230	1	0	0	0	0	1	0	0	0	4220	710	25	4	1148	4	CYP4F2	19	16003194	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	1933285	16003194	43125789	109	41952											
TMEM59L	25789	broad.mit.edu	37	chr19	18726931	18726931	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaatgggaaagtggtggtGtttcaggtgagacctctgac	10	10	15	6	0	2	2	1	2	1	1	2	5	2	3	1	4	0	1	1	4	2	1			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:18726931G>T	ENST00000600490.1	+	5	740	c.555G>T	c.(553-555)gtG>gtT	p.V185V	TMEM59L_ENST00000262817.3_Silent_p.V185V			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	185						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AAGTGGTGGTGTTTCAGGTGA	0.527													39	52					1.76056e-25	2.36208e-25	1	0	T	18726931	G	T	18726931	2	4	230	1	0	0	0	0	0	0	0	1	16280	1364	48	4		4	TMEM59L	19	18726931	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08	2723737	18726931	40402052	110	41953											
ZNF536	9745	broad.mit.edu	37	chr19	30935385	30935385	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cctacaagtgcacgttgtgcGacttcgcggcttcgcaggag	7	9	13	12	5	0	0	0	0	0	0	2	2	0	1	1	2	3	4	1	2	2	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:30935385G>C	ENST00000355537.3	+	2	1063	c.916G>C	c.(916-918)Gac>Cac	p.D306H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CACGTTGTGCGACTTCGCGGC	0.642													44	67					0	0	0	0	C	30935385	G	C	30935385	3	2	230	1	0	0	0	0	1	0	0	0	18069	1058	37	3	918	3	ZNF536	19	30935385	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	12208454	30935385	28193598	111	41954											
FFAR3	2865	broad.mit.edu	37	chr19	35849960	35849960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggacgtgctcctgctcaaCctgaccgcctcggacctgct	5	9	11	16	3	1	1	1	1	0	0	3	3	2	3	5	2	4	3	5	2	1	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:35849960C>T	ENST00000327809.4	+	2	369	c.168C>T	c.(166-168)aaC>aaT	p.N56N	FFAR3_ENST00000594310.1_Silent_p.N56N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	56						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TCCTGCTCAACCTGACCGCCT	0.667													9	81					0	0	0	0	T	35849960	C	T	35849960	2	4	230	1	0	0	0	0	0	0	0	1	5874	506	18	4		4	FFAR3	19	35849960	Silent	SNP	C	TCGA-CV-5439-01A-01D-1683-08	4914575	35849960	23279023	112	41955											
TMEM145	284339	broad.mit.edu	37	chr19	42820842	42820842	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttctcctccagcttcctCatcttcctgctgatgcttat	4	17	4	16	0	4	1	1	1	3	0	8	1	7	1	4	0	3	3	4	0	1	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:42820842C>T	ENST00000598766.1	+	10	828	c.828C>T	c.(826-828)ctC>ctT	p.L276L	TMEM145_ENST00000301204.3_Silent_p.L252L			Q8NBT3	TM145_HUMAN	transmembrane protein 145	252						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CCAGCTTCCTCATCTTCCTGC	0.662													5	57					0	0	0	0	T	42820842	C	T	42820842	2	4	230	1	0	0	0	0	0	0	0	1	16153	813	29	2		2	TMEM145	19	42820842	Silent	SNP	C	TCGA-CV-5439-01A-01D-1683-08	6970882	42820842	16308141	113	41956											
LILRB1	10859	broad.mit.edu	37	chr19	55144499	55144499	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagagtctccctctcggtgCagccgggccccacggtggcc	5	6	13	17	3	2	1	0	0	2	1	4	1	2	1	5	4	2	1	5	4	0	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:55144499C>A	ENST00000396331.1	+	8	1348	c.991C>A	c.(991-993)Cag>Aag	p.Q331K	LILRB1_ENST00000434867.2_Missense_Mutation_p.Q331K|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q331K|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q331K|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q331K|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q331K|LILRB1_ENST00000448689.1_Missense_Mutation_p.Q331K|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q331K|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q367K|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q331K|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q331K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	331	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTCTCGGTGCAGCCGGGCCC	0.612										HNSCC(37;0.09)			15	38					1.33834e-09	1.56139e-09	1	0	A	55144499	C	A	55144499	3	1	230	1	0	0	0	0	1	0	0	0	8844	711	25	4	1013	4	LILRB1	19	55144499	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08	12323657	55144499	3984484	114	41957											
ASXL1	171023	broad.mit.edu	37	chr20	31022483	31022483	+	Frame_Shift_Del	DEL	T	T	-																															ggtggcggcggggccaccgaTgagggaggtggcagaggcag																										TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr20:31022483delT	ENST00000375687.4	+	13	2392	c.1968delT	c.(1966-1968)gafs	p.D656fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.D651fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	656	Gly-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.T639_G659>PPWD(1)|p.A640_S664>PCSGG(1)|p.T655fs*8(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGCCACCGATGAGGGAGGTG	0.701			"F, N, Mis"		"MDS, CMML"								10	9	---	---	---	---					-	31022483	T	-	31022483	7	5	230	1	0	1	0	1	0	0	0	0	1070	1461	51	0	2024	0	ASXL1	20	31022483	Frame_Shift_Del	DEL	T	TCGA-CV-5439-01A-01D-1683-08		31022483	32003037	115	41958											
CLTCL1	8218	broad.mit.edu	37	chr22	19195770	19195770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctctatataggactcaCggccctttttcctggccatc	7	13	7	14	1	2	0	1	0	1	0	5	1	3	1	3	3	0	0	3	3	3	5			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr22:19195770C>T	ENST00000263200.10	-	22	3566	c.3494G>A	c.(3493-3495)cGt>cAt	p.R1165H	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1165H|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1165H	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1165	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATAGGACTCACGGCCCTTTTT	0.398			T	?	ALCL								21	45					0	0	0	0	T	19195770	C	T	19195770	3	4	230	1	0	0	0	0	1	0	0	0	3597	536	19	1	1472	1	CLTCL1	22	19195770	Missense_Mutation	SNP	C	TCGA-CV-5439-01A-01D-1683-08		19195770	32108796	116	41959											
SH3BP1	23616	broad.mit.edu	37	chr22	38061758	38061758	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgaccactgtgctcacGctcacaggagtctcccgcct	7	8	10	16	2	3	1	2	1	1	0	4	2	3	2	3	2	1	3	3	2	0	0			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr22:38061758G>T	ENST00000599616.1	+	16	1698	c.1698G>T	c.(1696-1698)acG>acT	p.T566T	PDXP_ENST00000215904.6_Silent_p.T257T|PDXP_ENST00000403251.1_Silent_p.T40T			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	0					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CTGTGCTCACGCTCACAGGAG	0.622													24	76					8.24728e-16	1.03735e-15	1	0	T	38061758	G	T	38061758	2	4	230	1	0	0	0	0	0	0	0	1	14331	1074	38	3		3	SH3BP1	22	38061758	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08	18865988	38061758	13242808	117	41960											
PKDREJ	10343	broad.mit.edu	37	chr22	46655440	46655440	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaaacaatgcacgtcgctGgtactcacagttcctctaag	11	11	7	12	2	2	0	1	0	1	0	4	0	3	0	1	1	3	4	1	1	5	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr22:46655440G>A	ENST00000253255.5	-	1	3779	c.3780C>T	c.(3778-3780)acC>acT	p.T1260T		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1260	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCACGTCGCTGGTACTCACAG	0.458													28	56					0	0	0	0	A	46655440	G	A	46655440	2	1	230	1	0	0	0	0	0	0	0	1	12042	1335	47	4		4	PKDREJ	22	46655440	Silent	SNP	G	TCGA-CV-5439-01A-01D-1683-08	8593682	46655440	4649126	118	41961											
FAM47A	158724	broad.mit.edu	37	chrX	34149650	34149650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgagtgatgggaggccccGggcggatatgggacactcca	9	5	17	10	3	0	1	0	1	0	0	1	6	1	4	3	5	0	0	3	5	1	1			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:34149650G>T	ENST00000346193.3	-	1	797	c.746C>A	c.(745-747)cCg>cAg	p.P249Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	249	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGGAGGCCCCGGGCGGATATG	0.632													12	11					2.27111e-07	2.52172e-07	1	0	T	34149650	G	T	34149650	3	4	230	1	0	0	0	0	1	0	0	0	5616	1116	39	3	1633	3	FAM47A	23	34149650	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08		34149650	121120910	119	41962											
ATRX	546	broad.mit.edu	37	chrX	76875969	76875969	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgcttcattttttagaatAtggccttcatcacaaacaac	13	14	5	9	0	3	1	3	0	0	1	3	2	3	1	1	1	3	1	1	1	5	6			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:76875969A>G	ENST00000373344.5	-	20	5380	c.5166T>C	c.(5164-5166)caT>caC	p.H1722H	ATRX_ENST00000395603.3_Silent_p.H1684H|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1722	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTTAGAATATGGCCTTCAT	0.294			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						15	3					0	0	0	0	G	76875969	A	G	76875969	2	3	230	1	0	0	0	0	0	0	0	1	1212	446	16	5		5	ATRX	23	76875969	Silent	SNP	A	TCGA-CV-5439-01A-01D-1683-08	42726319	76875969	78394591	120	41963											
ATP7A	538	broad.mit.edu	37	chrX	77301812	77301812	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaggaaaccaacttacgaGagttatgaactgcctgcccg	13	8	9	11	2	0	2	0	1	0	1	0	4	0	3	3	1	7	1	3	1	6	3			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:77301812G>C	ENST00000341514.6	+	23	4403	c.4248G>C	c.(4246-4248)gaG>gaC	p.E1416D	ATP7A_ENST00000350425.4_Missense_Mutation_p.E419D|ATP7A_ENST00000343533.5_Missense_Mutation_p.E1338D	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1416					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CAACTTACGAGAGTTATGAAC	0.408													7	80					0	0	0	0	C	77301812	G	C	77301812	3	2	230	1	0	0	0	0	1	0	0	0	1194	933	33	2	4334	2	ATP7A	23	77301812	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	425843	77301812	77968748	121	41964											
CPXCR1	53336	broad.mit.edu	37	chrX	88008503	88008503	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctaatgactgtagtacaGacatagagtctccatctgct	11	12	7	11	0	2	3	0	1	2	2	4	3	3	3	2	0	2	3	2	0	4	4			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:88008503G>C	ENST00000276127.4	+	3	347	c.88G>C	c.(88-90)Gac>Cac	p.D30H	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D30H	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	30						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CTGTAGTACAGACATAGAGTC	0.428													14	1					0	0	0	0	C	88008503	G	C	88008503	3	2	230	1	0	0	0	0	1	0	0	0	3866	942	33	2	90	2	CPXCR1	23	88008503	Missense_Mutation	SNP	G	TCGA-CV-5439-01A-01D-1683-08	10706691	88008503	67262057	122	41965											
MAGEC1	9947	broad.mit.edu	37	chrX	140994291	140994291	+	Frame_Shift_Del	DEL	T	T	-																															gctcaaagtacttttgagggTtttccccagtctcctctcca																										TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:140994291delT	ENST00000285879.4	+	4	1387	c.1101delT	c.(1099-1101)ggfs	p.G367fs	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	367							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTGAGGGTTTTCCCCAGT	0.478										HNSCC(15;0.026)			104	45	---	---	---	---					-	140994291	T	-	140994291	7	5	230	1	0	1	0	1	0	0	0	0	9249	1712	60	0	1107	0	MAGEC1	23	140994291	Frame_Shift_Del	DEL	T	TCGA-CV-5439-01A-01D-1683-08	52985788	140994291	14276269	123	41966											
MMEL1	79258	broad.mit.edu	37	chr1	2523433	2523433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggccgggcagctgctggtCcttgccaccctctgccatcc	4	8	11	18	1	1	0	0	0	1	0	3	0	3	0	6	3	4	3	6	3	0	1			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:2523433C>A	ENST00000288709.6	-	22	2314	c.2074G>T	c.(2074-2076)Gac>Tac	p.D692Y	MMEL1_ENST00000502556.1_Missense_Mutation_p.D544Y|MMEL1_ENST00000378412.3_Missense_Mutation_p.D701Y	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	701					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AGCTGCTGGTCCTTGCCACCC	0.617													31	11					4.4194e-11	4.91659e-11	1	0	A	2523433	C	A	2523433	3	1	231	1	0	0	0	0	1	0	0	0	9715	855	30	2	250	2	MMEL1	1	2523433	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08		2523433	246727188	1	41967											
PEX14	5195	broad.mit.edu	37	chr1	10690033	10690033	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggcgccagcaacgagagtGagcgggactagggctgcgcc	9	3	18	11	4	0	2	0	1	0	1	0	4	0	3	2	3	4	2	2	3	2	1			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:10690033G>C	ENST00000356607.4	+	9	1203	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	PEX14_ENST00000538836.1_Missense_Mutation_p.E311Q	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	375					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CAACGAGAGTGAGCGGGACTA	0.706													5	19					0	0	0	0	C	10690033	G	C	10690033	3	2	231	1	0	0	0	0	1	0	0	0	11814	1291	45	2	1157	2	PEX14	1	10690033	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	8166600	10690033	238560588	2	41968											
KCNQ4	9132	broad.mit.edu	37	chr1	41303381	41303381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccggggacaggaaggcccGggagaagggcgacaaggggc	10	0	21	10	3	0	1	0	0	0	1	0	5	0	3	2	8	0	0	2	8	3	0			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:41303381G>A	ENST00000347132.5	+	13	1872	c.1790G>A	c.(1789-1791)cGg>cAg	p.R597Q	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.R543Q	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	597	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGGAAGGCCCGGGAGAAGGGC	0.642													8	9					0	0	0	0	A	41303381	G	A	41303381	3	1	231	1	0	0	0	0	1	0	0	0	8138	1116	39	1	1840	1	KCNQ4	1	41303381	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	30613348	41303381	207947240	3	41969											
GBP6	163351	broad.mit.edu	37	chr1	89834114	89834114	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaggttggcagttgccatgGaatctggacccaaaatgttg	10	11	12	8	0	1	0	0	0	1	0	1	2	1	2	2	4	1	4	2	4	4	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:89834114G>T	ENST00000370456.4	+	2	97	c.4G>T	c.(4-6)Gaa>Taa	p.E2*	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	2							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AGTTGCCATGGAATCTGGACC	0.443													15	29					3.45872e-05	3.6003e-05	1	0	T	89834114	G	T	89834114	4	4	231	1	0	0	0	0	0	1	0	0	6327	1175	41	2	6	2	GBP6	1	89834114	Nonsense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	48530733	89834114	159416507	4	41970											
DENND4B	9909	broad.mit.edu	37	chr1	153907346	153907346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgttctctcaagggctggCggaactgagcagcccccagg	7	6	14	14	2	2	1	1	1	1	0	3	2	2	2	3	4	3	3	3	4	2	1			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:153907346C>T	ENST00000361217.4	-	18	3081	c.2663G>A	c.(2662-2664)cGc>cAc	p.R888H		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	888	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAGGGCTGGCGGAACTGAGC	0.627													20	117					0	0	0	0	T	153907346	C	T	153907346	3	4	231	1	0	0	0	0	1	0	0	0	4471	768	27	1	1871	1	DENND4B	1	153907346	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	64073232	153907346	95343275	5	41971											
LAMB3	3914	broad.mit.edu	37	chr1	209799093	209799093	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatcttactctttgcatCtaggatccgggaggccaggc	8	11	10	12	1	4	0	1	0	3	0	5	2	5	2	2	4	2	1	2	4	3	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:209799093C>A	ENST00000391911.1	-	13	2265	c.1876G>T	c.(1876-1878)Gat>Tat	p.D626Y	LAMB3_ENST00000356082.4_Missense_Mutation_p.D626Y|LAMB3_ENST00000367030.3_Missense_Mutation_p.D626Y	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	626	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCTTTGCATCTAGGATCCGG	0.642													5	109					0.184627	0.184627	1	0	A	209799093	C	A	209799093	3	1	231	1	0	0	0	0	1	0	0	0	8665	913	32	2	1682	2	LAMB3	1	209799093	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	55891747	209799093	39451528	6	41972											
ANGEL2	90806	broad.mit.edu	37	chr1	213186481	213186481	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctcatctccctcagcgttCatgacgtaactagagagatg	10	10	10	11	2	4	3	3	1	1	2	5	4	4	3	1	1	2	3	1	1	2	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:213186481C>G	ENST00000366962.3	-	2	493	c.339G>C	c.(337-339)atG>atC	p.M113I	ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000535388.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	113										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CCTCAGCGTTCATGACGTAAC	0.408													18	72					0	0	0	0	G	213186481	C	G	213186481	3	3	231	1	0	0	0	0	1	0	0	0	609	826	29	2	1327	2	ANGEL2	1	213186481	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	3387388	213186481	36064140	7	41973											
PGBD2	267002	broad.mit.edu	37	chr1	249210815	249210815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taacagagatgtcattgctgGgagaggtatccactcaaagg	13	9	12	7	0	2	2	2	0	0	2	3	4	3	2	1	3	2	2	1	3	3	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:249210815G>A	ENST00000539153.1	+	4	278	c.23G>A	c.(22-24)gGg>gAg	p.G8E	PGBD2_ENST00000329291.5_Missense_Mutation_p.G11E|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	11										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTCATTGCTGGGAGAGGTATC	0.463													12	17					0	0	0	0	A	249210815	G	A	249210815	3	1	231	1	0	0	0	0	1	0	0	0	11853	1232	43	4	38	4	PGBD2	1	249210815	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	36024334	249210815	39806	8	41974											
TFCP2L1	29842	broad.mit.edu	37	chr2	121997182	121997182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccattgtagcttggggacGgggcgctgttcacctggtag	7	10	15	9	2	1	0	1	0	0	0	1	1	1	1	2	5	2	5	2	5	3	5	rs137971940		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:121997182G>A	ENST00000263707.5	-	8	909	c.812C>T	c.(811-813)cCg>cTg	p.P271L		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	271					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GCTTGGGGACGGGGCGCTGTT	0.612													21	24					0	0	0	0	A	121997182	G	A	121997182	3	1	231	1	0	0	0	0	1	0	0	0	15890	1116	39	1	659	1	TFCP2L1	2	121997182	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08		121997182	121202191	9	41975											
TTN	7273	broad.mit.edu	37	chr2	179484357	179484357	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagggactgacctgccagttCaagcttagctctggcttctt	8	12	10	11	0	3	1	1	1	2	0	3	2	3	2	2	2	3	4	2	2	3	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:179484357C>G	ENST00000589042.1	-	250	46911	c.46687G>C	c.(46687-46689)Gaa>Caa	p.E15563Q	TTN_ENST00000460472.2_Missense_Mutation_p.E6498Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6623Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13922Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12995Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6690Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13922	Fibronectin type-III 13.						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)			CCTGCCAGTTCAAGCTTAGCT	0.383													12	51					0	0	0	0	G	179484357	C	G	179484357	3	3	231	1	0	0	0	0	1	0	0	0	16831	835	29	2	61458	2	TTN	2	179484357	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	57487175	179484357	63715016	10	41976											
ZNF804A	91752	broad.mit.edu	37	chr2	185802803	185802803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccttctgaaaccaatggtGaaactgagcatttagaaatg	14	12	8	7	0	1	4	0	3	1	1	2	4	2	4	2	1	3	1	2	1	5	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:185802803G>A	ENST00000302277.6	+	4	3274	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	894						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AACCAATGGTGAAACTGAGCA	0.403													10	51					0	0	0	0	A	185802803	G	A	185802803	3	1	231	1	0	0	0	0	1	0	0	0	18263	1291	45	2	2694	2	ZNF804A	2	185802803	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	6318446	185802803	57396570	11	41977											
STAT4	6775	broad.mit.edu	37	chr2	191900890	191900890	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctatctaccagctctcacCtgtaagcttctctgccagca	8	12	5	16	0	4	0	1	0	4	0	6	0	4	0	3	0	5	4	3	0	3	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:191900890C>T	ENST00000392320.2	-	17	1884	c.1570_splice	c.e17+1	p.V524_splice	STAT4_ENST00000358470.4_Splice_Site_p.V524_splice	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	524					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAGCTCTCACCTGTAAGCTTC	0.423													10	14					0	0	0	0	T	191900890	C	T	191900890	5	4	231	1	0	0	0	0	0	0	1	0	15357	695	24	4	708	4	STAT4	2	191900890	Splice_Site	SNP	C	TCGA-CV-5440-01A-01D-1512-08	6098087	191900890	51298483	12	41978											
PASK	23178	broad.mit.edu	37	chr2	242078139	242078139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacgcagcataggcggCgctcctgccgcatcctcttc	6	7	9	19	4	1	0	0	0	1	0	4	0	3	0	5	2	2	4	5	2	1	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:242078139C>T	ENST00000403638.3	-	5	762	c.671G>A	c.(670-672)cGc>cAc	p.R224H	PASK_ENST00000358649.4_Missense_Mutation_p.R224H|PASK_ENST00000234040.4_Missense_Mutation_p.R224H|PASK_ENST00000544142.1_Missense_Mutation_p.R38H|PASK_ENST00000539818.1_Missense_Mutation_p.R8H|PASK_ENST00000405260.1_Missense_Mutation_p.R224H	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	224					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCATAGGCGGCGCTCCTGCCG	0.572													27	17					0	0	0	0	T	242078139	C	T	242078139	3	4	231	1	0	0	0	0	1	0	0	0	11543	768	27	1	3356	1	PASK	2	242078139	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	50177249	242078139	1121234	13	41979											
GHRL	51738	broad.mit.edu	37	chr3	10331501	10331501	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctccatcttccgggcggAgccagcctgctagagctcgg	6	7	13	15	3	1	1	0	0	1	1	4	3	3	2	5	3	4	2	5	3	1	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:10331501A>T	ENST00000335542.8	-	4	1040	c.170T>A	c.(169-171)cTc>cAc	p.L57H	GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000422159.1_Missense_Mutation_p.L57H|GHRL_ENST00000457360.1_Missense_Mutation_p.L57H|GHRL_ENST00000449238.2_Missense_Mutation_p.L44H|GHRL_ENST00000287656.7_Missense_Mutation_p.L56H|GHRL_ENST00000450603.1_Missense_Mutation_p.L57H|GHRL_ENST00000439975.2_Intron|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000449554.2_Missense_Mutation_p.L56H|GHRL_ENST00000430179.1_Missense_Mutation_p.L56H|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000437422.2_Missense_Mutation_p.L45H|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000429122.1_Missense_Mutation_p.L57H			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	57					actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						TTCCGGGCGGAGCCAGCCTGC	0.587													60	36					0	0	0	0	T	10331501	A	T	10331501	3	4	231	1	0	0	0	0	1	0	0	0	6425	304	11	5	195	5	GHRL	3	10331501	Missense_Mutation	SNP	A	TCGA-CV-5440-01A-01D-1512-08		10331501	187690929	14	41980											
KLHDC8B	200942	broad.mit.edu	37	chr3	49210467	49210467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtggtgggtggtgtggatGaggtccagagcccggtagct	6	10	19	6	1	0	2	0	1	0	1	1	3	1	3	2	6	2	2	2	6	2	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:49210467G>A	ENST00000332780.2	+	2	474	c.265G>A	c.(265-267)Gag>Aag	p.E89K	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	89						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGTGTGGATGAGGTCCAGAG	0.662													13	2					0	0	0	0	A	49210467	G	A	49210467	3	1	231	1	0	0	0	0	1	0	0	0	8415	1291	45	2	267	2	KLHDC8B	3	49210467	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	38878966	49210467	148811963	15	41981											
OR5K2	402135	broad.mit.edu	37	chr3	98217323	98217323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagaccaaatttgcttgaaGaaggaggtaatgatatacca	16	11	9	5	0	0	4	0	2	0	2	0	5	0	5	2	2	2	2	2	2	7	6			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:98217323G>A	ENST00000427338.1	+	1	876	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E267Q(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTTGCTTGAAGAAGGAGGTAA	0.328													32	4					0	0	0	0	A	98217323	G	A	98217323	3	1	231	1	0	0	0	0	1	0	0	0	11238	943	33	2	801	2	OR5K2	3	98217323	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	49006856	98217323	99805107	16	41982											
PCCB	5096	broad.mit.edu	37	chr3	135974807	135974807	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattttggaatggctgctgAtaagaataaggtatttgttc	12	15	11	3	0	0	3	0	1	0	2	1	4	0	4	0	3	1	4	0	3	5	7			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:135974807A>T	ENST00000471595.1	+	2	311	c.293A>T	c.(292-294)gAt>gTt	p.D98V	PCCB_ENST00000474833.1_Intron|PCCB_ENST00000483687.1_Missense_Mutation_p.D98V|PCCB_ENST00000478469.1_Missense_Mutation_p.D98V|PCCB_ENST00000251654.4_Missense_Mutation_p.D98V|PCCB_ENST00000462637.1_Missense_Mutation_p.D98V|PCCB_ENST00000468777.1_Missense_Mutation_p.D98V|PCCB_ENST00000490504.1_Missense_Mutation_p.D98V|PCCB_ENST00000466072.1_Missense_Mutation_p.D98V|PCCB_ENST00000469217.1_Missense_Mutation_p.D98V|PCCB_ENST00000482086.1_Intron			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	98	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	ATGGCTGCTGATAAGAATAAG	0.433													11	55					0	0	0	0	T	135974807	A	T	135974807	3	4	231	1	0	0	0	0	1	0	0	0	11576	333	12	5	299	5	PCCB	3	135974807	Missense_Mutation	SNP	A	TCGA-CV-5440-01A-01D-1512-08	37757484	135974807	62047623	17	41983											
HLTF	6596	broad.mit.edu	37	chr3	148791054	148791054	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagcatgcactggcatactAtagcttggtccagctcttcc	8	11	9	13	0	1	0	0	0	1	0	3	0	3	0	2	2	5	6	2	2	3	5			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:148791054A>G	ENST00000310053.5	-	5	778	c.585T>C	c.(583-585)taT>taC	p.Y195Y	HLTF_ENST00000494055.1_Silent_p.Y195Y|HLTF_ENST00000392912.2_Silent_p.Y195Y|HLTF_ENST00000465259.1_Silent_p.Y195Y	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	195					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTGGCATACTATAGCTTGGTC	0.353													36	14					0	0	0	0	G	148791054	A	G	148791054	2	3	231	1	0	0	0	0	0	0	0	1	7265	456	16	5		5	HLTF	3	148791054	Silent	SNP	A	TCGA-CV-5440-01A-01D-1512-08	12816247	148791054	49231376	18	41984											
TP63	8626	broad.mit.edu	37	chr3	189612152	189612152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggctccagtgagacccgggGtgagcgtgttattgatgctg	6	10	17	8	2	0	3	0	3	0	1	1	4	1	3	2	3	2	3	2	3	1	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:189612152G>T	ENST00000264731.3	+	14	1993	c.1904G>T	c.(1903-1905)gGt>gTt	p.G635V	TP63_ENST00000320472.5_3'UTR|TP63_ENST00000440651.2_Missense_Mutation_p.G631V|TP63_ENST00000382063.4_Missense_Mutation_p.G550V|TP63_ENST00000354600.5_Missense_Mutation_p.G541V|TP63_ENST00000456148.1_Missense_Mutation_p.G537V|TP63_ENST00000449992.1_Missense_Mutation_p.G456V	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	635	Transactivation inhibition.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GAGACCCGGGGTGAGCGTGTT	0.577										HNSCC(45;0.13)			15	94					1.5739e-10	1.72934e-10	1	0	T	189612152	G	T	189612152	3	4	231	1	0	0	0	0	1	0	0	0	16487	1261	44	4	2123	4	TP63	3	189612152	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	40821098	189612152	8410278	19	41985											
SGCB	6443	broad.mit.edu	37	chr4	52894901	52894901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaataaatcataccctttCagtagatgccttttgaacat	13	13	5	10	0	2	2	2	1	0	1	2	2	2	2	3	0	3	1	3	0	6	6			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr4:52894901C>T	ENST00000381431.5	-	4	838	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	SGCB_ENST00000535450.1_Missense_Mutation_p.E136K	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	206	Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CATACCCTTTCAGTAGATGCC	0.343													4	39					0	0	0	0	T	52894901	C	T	52894901	3	4	231	1	0	0	0	0	1	0	0	0	14287	835	29	2	352	2	SGCB	4	52894901	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08		52894901	138259375	20	41986											
UGT2B4	7363	broad.mit.edu	37	chr4	70351035	70351035	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcatgtgtgcaatgttatCaggttgatctgcaaacaatg	11	14	9	7	0	3	1	2	1	1	0	3	1	3	1	0	1	3	4	0	1	4	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr4:70351035C>G	ENST00000305107.6	-	5	1247	c.1201G>C	c.(1201-1203)Gat>Cat	p.D401H	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.D265H	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	401					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GCAATGTTATCAGGTTGATCT	0.443													30	54					0	0	0	0	G	70351035	C	G	70351035	3	3	231	1	0	0	0	0	1	0	0	0	17057	826	29	2	393	2	UGT2B4	4	70351035	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	17456134	70351035	120803241	21	41987											
MTX3	345778	broad.mit.edu	37	chr5	79284343	79284343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctctggtcaggagaatcCtattcagtgctcccttagac	8	12	9	12	0	3	2	2	0	1	2	6	3	6	2	3	2	1	1	3	2	3	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:79284343C>T	ENST00000512560.1	-	4	382	c.263G>A	c.(262-264)aGg>aAg	p.R88K	MTX3_ENST00000512528.1_Missense_Mutation_p.R149K|MTX3_ENST00000509852.1_Missense_Mutation_p.R149K	NM_001167741.1	NP_001161213.1	Q5HYI7	MTX3_HUMAN	metaxin 3	149					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		CAGGAGAATCCTATTCAGTGC	0.458													10	2					0	0	0	0	T	79284343	C	T	79284343	3	4	231	1	0	0	0	0	1	0	0	0	10039	681	24	4	512	4	MTX3	5	79284343	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08		79284343	101630917	22	41988											
CHSY3	337876	broad.mit.edu	37	chr5	129241116	129241116	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcggacctgggcgcgtttCatcccgggccgcgtggagtt	4	8	16	13	6	1	0	1	0	0	0	2	2	2	2	3	4	1	2	3	4	0	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:129241116C>T	ENST00000305031.4	+	1	952	c.594C>T	c.(592-594)ttC>ttT	p.F198F	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	198						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GGGCGCGTTTCATCCCGGGCC	0.721													7	10					0	0	0	0	T	129241116	C	T	129241116	2	4	231	1	0	0	0	0	0	0	0	1	3442	825	29	2		2	CHSY3	5	129241116	Silent	SNP	C	TCGA-CV-5440-01A-01D-1512-08	49956773	129241116	51674144	23	41989											
SEC24A	10802	broad.mit.edu	37	chr5	134044567	134044567	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccactttttgtgttggctCtccttaaacaggtaagaaaa	11	14	7	9	0	1	1	0	0	1	1	3	1	2	1	2	2	1	3	2	2	5	5			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:134044567C>G	ENST00000398844.2	+	18	3004	c.2716C>G	c.(2716-2718)Ctc>Gtc	p.L906V		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	906					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGTTGGCTCTCCTTAAACA	0.468													16	2					0	0	0	0	G	134044567	C	G	134044567	3	3	231	1	0	0	0	0	1	0	0	0	14081	913	32	2	2786	2	SEC24A	5	134044567	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	4803451	134044567	46870693	24	41990											
MDC1	9656	broad.mit.edu	37	chr6	30681733	30681733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagagcaagtcagcaaagaGaatcaattcctggtccctca	14	7	9	11	0	3	2	3	0	0	2	5	3	5	2	2	1	2	3	2	1	4	1	rs137893469	by1000genomes	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:30681733G>A	ENST00000376406.3	-	3	1011	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	MDC1_ENST00000376405.2_Missense_Mutation_p.L122F	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	122	Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCAGCAAAGAGAATCAATTCC	0.552								Other conserved DNA damage response genes					35	14					0	0	0	0	A	30681733	G	A	30681733	3	1	231	1	0	0	0	0	1	0	0	0	9472	942	33	2	5957	2	MDC1	6	30681733	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08		30681733	140433334	25	41991											
MDC1	9656	broad.mit.edu	37	chr6	30681830	30681830	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaaggctcccacagtctcgGaggataggtgccttgtccca	8	10	11	12	1	1	0	0	0	1	0	4	2	3	2	3	4	1	1	3	4	2	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:30681830G>A	ENST00000376406.3	-	3	914	c.267C>T	c.(265-267)ctC>ctT	p.L89L	MDC1_ENST00000376405.2_Silent_p.L89L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	89	FHA.|Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CACAGTCTCGGAGGATAGGTG	0.517								Other conserved DNA damage response genes					22	6					0	0	0	0	A	30681830	G	A	30681830	2	1	231	1	0	0	0	0	0	0	0	1	9472	1161	41	2		2	MDC1	6	30681830	Silent	SNP	G	TCGA-CV-5440-01A-01D-1512-08	97	30681830	140433237	26	41992											
CCHCR1	54535	broad.mit.edu	37	chr6	31122387	31122387	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggccctcagcctcagcTcggccggccttctccgcccg	3	6	11	21	5	3	0	2	0	1	0	5	0	3	0	6	3	2	2	6	3	0	1			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:31122387T>A	ENST00000396268.3	-	4	875	c.687A>T	c.(685-687)cgA>cgT	p.R229R	CCHCR1_ENST00000451521.2_Silent_p.R193R|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Silent_p.R140R|CCHCR1_ENST00000376266.5_Silent_p.R140R	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	140					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CAGCCTCAGCTCGGCCGGCCT	0.662													179	60					0	0	0	0	A	31122387	T	A	31122387	2	1	231	1	0	0	0	0	0	0	0	1	2904	1538	54	5		5	CCHCR1	6	31122387	Silent	SNP	T	TCGA-CV-5440-01A-01D-1512-08	440557	31122387	139992680	27	41993											
TMEM14A	28978	broad.mit.edu	37	chr6	52550825	52550825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcctcatgatgatcctgaGacttgtcttgttgctgctct	6	15	9	11	0	3	3	1	3	2	1	4	4	4	3	2	0	3	3	2	0	0	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:52550825G>C	ENST00000211314.4	+	5	431	c.278G>C	c.(277-279)aGa>aCa	p.R93T		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	93						integral to membrane				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					ATGATCCTGAGACTTGTCTTG	0.408													43	15					0	0	0	0	C	52550825	G	C	52550825	3	2	231	1	0	0	0	0	1	0	0	0	16157	942	33	2	292	2	TMEM14A	6	52550825	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	21428438	52550825	118564242	28	41994											
GPRC6A	222545	broad.mit.edu	37	chr6	117121842	117121842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttagtgacagtcatgtGtccattgatctccttccaga	9	14	7	11	0	3	3	1	2	2	1	6	3	5	3	3	0	0	0	3	0	1	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:117121842G>T	ENST00000310357.3	-	4	1474	c.1453C>A	c.(1453-1455)Cac>Aac	p.H485N	GPRC6A_ENST00000530250.1_Missense_Mutation_p.H310N|GPRC6A_ENST00000368549.3_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	485					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACAGTCATGTGTCCATTGATC	0.383													15	45					3.27435e-08	3.55387e-08	1	0	T	117121842	G	T	117121842	3	4	231	1	0	0	0	0	1	0	0	0	6778	1377	48	4	1339	4	GPRC6A	6	117121842	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	64571017	117121842	53993225	29	41995											
NOX3	50508	broad.mit.edu	37	chr6	155743937	155743937	+	Missense_Mutation	SNP	G	G	C																															cggcaacgcacacacacactGggtagtgaaatacatctgtc																										TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:155743937G>C	ENST00000159060.2	-	10	1301	c.1199C>G	c.(1198-1200)cCa>cGa	p.P400R		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	400							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CACACACACTGGGTAGTGAAA	0.527													30	44					0	0	0	0	C	155743937	G	C	155743937	3	2	231	1	0	0	0	0	1	0	0	0	10627	1348	47	4	523	4	NOX3	6	155743937	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	38622095	155743937	15371130	30	41996	321	2									
NOX3	50508	broad.mit.edu	37	chr6	155743938	155743938	+	Missense_Mutation	SNP	G	G	T																															ggcaacgcacacacacactgGgtagtgaaatacatctgtca																										TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:155743938G>T	ENST00000159060.2	-	10	1300	c.1198C>A	c.(1198-1200)Cca>Aca	p.P400T		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	400							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ACACACACTGGGTAGTGAAAT	0.527													30	44					2.61193e-14	2.94256e-14	1	0	T	155743938	G	T	155743938	3	4	231	1	0	0	0	0	1	0	0	0	10627	1232	43	4	524	4	NOX3	6	155743938	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	1	155743938	15371129	31	41997	321	2									
PACRG	135138	broad.mit.edu	37	chr6	163510334	163510334	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtcatctgtgtcactctCaaggtcctccagcatctggt	7	12	9	13	0	5	0	3	0	3	0	8	0	7	0	2	3	1	1	2	3	1	0			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:163510334C>G	ENST00000337019.3	+	5	731	c.507C>G	c.(505-507)ctC>ctG	p.L169L	PACRG_ENST00000366888.2_Silent_p.L169L|PACRG_ENST00000366889.2_Silent_p.L169L	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	169										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GTGTCACTCTCAAGGTCCTCC	0.448													12	26					0	0	0	0	G	163510334	C	G	163510334	2	3	231	1	0	0	0	0	0	0	0	1	11441	813	29	2		2	PACRG	6	163510334	Silent	SNP	C	TCGA-CV-5440-01A-01D-1512-08	7766396	163510334	7604733	32	41998											
PDE1C	5137	broad.mit.edu	37	chr7	31848696	31848696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgatccttcttgtctgTcttatttttaccatctttga	7	20	6	8	0	4	3	0	2	4	1	5	3	5	3	2	0	1	0	2	0	2	7			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:31848696T>C	ENST00000396184.3	-	17	2044	c.1840A>G	c.(1840-1842)Aca>Gca	p.T614A	PDE1C_ENST00000321453.7_Missense_Mutation_p.T614A|PDE1C_ENST00000396191.1_Missense_Mutation_p.T614A|PDE1C_ENST00000396182.2_Missense_Mutation_p.T614A|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396193.1_Missense_Mutation_p.T674A	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	614					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTCTTGTCTGTCTTATTTTTA	0.328													9	18					0	0	0	0	C	31848696	T	C	31848696	3	2	231	1	0	0	0	0	1	0	0	0	11706	1667	58	5	72	5	PDE1C	7	31848696	Missense_Mutation	SNP	T	TCGA-CV-5440-01A-01D-1512-08		31848696	127289967	33	41999											
TNS3	64759	broad.mit.edu	37	chr7	47384376	47384388	+	Frame_Shift_Del	DEL	GCTGGGCTGCTCA	GCTGGGCTGCTCA	-																															gtcctcctttgtgctgactgGctgggctgctcagcgggggc																										TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:47384376_47384388delGCTGGGCTGCTCA	ENST00000398879.1	-	20	2981_2993	c.2615_2627delTGAGCAGCCCAGC	c.(2614-2628)ccfs	p.LSSPA872fs	TNS3_ENST00000355730.3_Frame_Shift_Del_p.LSSPA632fs|TNS3_ENST00000311160.9_Frame_Shift_Del_p.LSSPA872fs			Q68CZ2	TENS3_HUMAN	tensin 3	872						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GTGCTGACTGGCTGGGCTGCTCAGCGGGGGCTC	0.61													9	75	---	---	---	---					-	47384388	GCTGGGCTGCTCA	-	47384376	7	5	231	1	0	1	0	1	0	0	0	0	16438	1203	42	0	1758	0	TNS3	7	47384376	Frame_Shift_Del	DEL	GCTGGGCTGCTCA	TCGA-CV-5440-01A-01D-1512-08	15535680	47384376	111754287	34	42000											
LIMK1	3984	broad.mit.edu	37	chr7	73521402	73521402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctccccggcctcccagcGcaaggacctgggtcgctctg	4	6	14	17	3	1	0	0	0	1	0	4	1	3	1	5	4	1	3	5	4	1	0			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:73521402G>A	ENST00000418310.1	+	8	1136	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	LIMK1_ENST00000538333.3_Missense_Mutation_p.R281H|LIMK1_ENST00000336180.2_Missense_Mutation_p.R315H			P53667	LIMK1_HUMAN	LIM domain kinase 1	315	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GCCTCCCAGCGCAAGGACCTG	0.706													11	15					0	0	0	0	A	73521402	G	A	73521402	3	1	231	1	0	0	0	0	1	0	0	0	8855	1087	38	1	974	1	LIMK1	7	73521402	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	26137026	73521402	85617261	35	42001											
MUC17	140453	broad.mit.edu	37	chr7	100677236	100677236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctactgaagtcagttcatctCctacacctgctgaaggtacc	10	11	7	13	0	3	2	2	2	1	0	4	2	3	2	3	1	4	3	3	1	5	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:100677236C>T	ENST00000306151.4	+	3	2603	c.2539C>T	c.(2539-2541)Cct>Tct	p.P847S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	847	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTACACCTGC	0.502													108	197					0	0	0	0	T	100677236	C	T	100677236	3	4	231	1	0	0	0	0	1	0	0	0	10044	855	30	2	2549	2	MUC17	7	100677236	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	27155834	100677236	58461427	36	42002											
RNF133	168433	broad.mit.edu	37	chr7	122338572	122338572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaacacctggttgccagtaCctggaacgttatagatgatc	11	10	11	9	1	0	2	0	1	0	1	1	4	0	4	3	3	4	3	3	3	5	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:122338572C>A	ENST00000340112.2	-	1	638	c.401G>T	c.(400-402)gGt>gTt	p.G134V	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	134	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.G134A(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GTTGCCAGTACCTGGAACGTT	0.428													19	60					6.94344e-10	7.58241e-10	1	0	A	122338572	C	A	122338572	3	1	231	1	0	0	0	0	1	0	0	0	13524	507	18	4	733	4	RNF133	7	122338572	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	21661336	122338572	36800091	37	42003											
CALU	813	broad.mit.edu	37	chr7	128407640	128407640	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagagaccaaagactggatCcttccctcagactatgatca	14	8	8	11	0	2	4	2	1	0	3	4	7	4	5	3	1	0	0	3	1	3	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:128407640C>T	ENST00000542996.2	+	7	1741	c.798C>T	c.(796-798)atC>atT	p.I266I	CALU_ENST00000538546.1_Silent_p.I107I|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000535011.2_Intron|CALU_ENST00000479257.1_Silent_p.I266I|CALU_ENST00000249364.4_Silent_p.I258I|CALU_ENST00000449187.2_Silent_p.I258I	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN	calumenin	258	EF-hand 6.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						AAGACTGGATCCTTCCCTCAG	0.502													18	10					0	0	0	0	T	128407640	C	T	128407640	2	4	231	1	0	0	0	0	0	0	0	1	2619	845	30	2		2	CALU	7	128407640	Silent	SNP	C	TCGA-CV-5440-01A-01D-1512-08	6069068	128407640	30731023	38	42004											
ADAM9	8754	broad.mit.edu	37	chr8	38880809	38880809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcgggaaaagtttcttatCacacgtcggagacatgacag	12	9	12	8	3	2	2	1	1	1	1	3	4	2	3	0	3	0	1	0	3	3	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:38880809C>G	ENST00000487273.2	+	9	957	c.879C>G	c.(877-879)atC>atG	p.I293M		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	293	Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AGTTTCTTATCACACGTCGGA	0.383													7	33					0	0	0	0	G	38880809	C	G	38880809	3	3	231	1	0	0	0	0	1	0	0	0	253	816	29	2	913	2	ADAM9	8	38880809	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08		38880809	107483213	39	42005											
ADAM32	203102	broad.mit.edu	37	chr8	39009051	39009051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaccaatggatgacaacaTttttataagtgaaaaagtga	19	10	7	5	0	0	3	0	3	0	0	0	4	0	4	1	1	2	0	1	1	7	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:39009051T>C	ENST00000379907.4	+	6	636	c.509T>C	c.(508-510)aTt>aCt	p.I170T	ADAM32_ENST00000437682.2_Missense_Mutation_p.I177T|ADAM32_ENST00000519315.1_Missense_Mutation_p.I170T	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	170					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GATGACAACATTTTTATAAGT	0.254													9	15					0	0	0	0	C	39009051	T	C	39009051	3	2	231	1	0	0	0	0	1	0	0	0	249	1493	52	5	531	5	ADAM32	8	39009051	Missense_Mutation	SNP	T	TCGA-CV-5440-01A-01D-1512-08	128242	39009051	107354971	40	42006											
PRKDC	5591	broad.mit.edu	37	chr8	48848436	48848436	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcaccacgaggtgctccaGaactggagtatacacctcag	12	7	9	13	1	2	1	2	0	0	1	3	3	3	2	3	2	3	2	3	2	3	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:48848436G>C	ENST00000314191.2	-	13	1359	c.1303C>G	c.(1303-1305)Ctg>Gtg	p.L435V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L435V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	435					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGTGCTCCAGAACTGGAGTA	0.433								Non-homologous end-joining					7	11					0	0	0	0	C	48848436	G	C	48848436	3	2	231	1	0	0	0	0	1	0	0	0	12601	933	33	2	11378	2	PRKDC	8	48848436	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	9839385	48848436	97515586	41	42007											
TOX	9760	broad.mit.edu	37	chr8	59852094	59852094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcactttccaggcttggacCagggtaggactgtgaaaaga	11	10	12	8	0	1	2	1	1	0	1	2	4	2	4	2	4	0	2	2	4	3	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:59852094C>A	ENST00000361421.1	-	3	398	c.178G>T	c.(178-180)Ggt>Tgt	p.G60C		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	60						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AGGCTTGGACCAGGGTAGGAC	0.423													13	26					7.93312e-07	8.45566e-07	1	0	A	59852094	C	A	59852094	3	1	231	1	0	0	0	0	1	0	0	0	16472	594	21	4	1430	4	TOX	8	59852094	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	11003658	59852094	86511928	42	42008											
CSPP1	79848	broad.mit.edu	37	chr8	68092140	68092140	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttgaaaaactcattattgGaatctgatagtgcttttatt	12	18	6	5	0	3	2	1	2	2	0	3	3	3	3	0	1	2	1	0	1	6	7			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:68092140G>T	ENST00000262210.5	+	26	3215	c.3184G>T	c.(3184-3186)Gaa>Taa	p.E1062*	ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Nonsense_Mutation_p.E717*|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1097						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CTCATTATTGGAATCTGATAG	0.274													15	33					4.14922e-12	4.64504e-12	1	0	T	68092140	G	T	68092140	4	4	231	1	0	0	0	0	0	1	0	0	3994	1175	41	2	3399	2	CSPP1	8	68092140	Nonsense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	8240046	68092140	78271882	43	42009											
RIMS2	9699	broad.mit.edu	37	chr8	104928744	104928744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgaaccacaagtagaacTtgtagtttcaaggcctattg	13	11	8	9	0	1	2	1	1	0	1	1	2	1	2	3	1	2	3	3	1	7	6			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:104928744T>C	ENST00000507740.1	+	6	1675	c.1439T>C	c.(1438-1440)cTt>cCt	p.L480P	RIMS2_ENST00000262231.10_Missense_Mutation_p.L527P|RIMS2_ENST00000406091.3_Missense_Mutation_p.L672P|RIMS2_ENST00000436393.2_Missense_Mutation_p.L450P	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	750					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAGTAGAACTTGTAGTTTCA	0.348										HNSCC(12;0.0054)			40	19					0	0	0	0	C	104928744	T	C	104928744	3	2	231	1	0	0	0	0	1	0	0	0	13453	1609	56	5	2171	5	RIMS2	8	104928744	Missense_Mutation	SNP	T	TCGA-CV-5440-01A-01D-1512-08	36836604	104928744	41435278	44	42010											
RIMS2	9699	broad.mit.edu	37	chr8	105001535	105001535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagatcttgttgttttagtcGgaatgtggaacaggggcttc	8	15	13	5	1	1	1	0	0	1	1	3	3	1	3	0	4	1	3	0	4	4	6			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:105001535G>A	ENST00000507740.1	+	14	2542	c.2306G>A	c.(2305-2307)cGg>cAg	p.R769Q	RIMS2_ENST00000262231.10_Missense_Mutation_p.R816Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R977Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.R755Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1039					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTTTAGTCGGAATGTGGAA	0.383										HNSCC(12;0.0054)			18	84					0	0	0	0	A	105001535	G	A	105001535	3	1	231	1	0	0	0	0	1	0	0	0	13453	1116	39	1	3122	1	RIMS2	8	105001535	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	72791	105001535	41362487	45	42011											
EIF3H	8667	broad.mit.edu	37	chr8	117668121	117668121	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaggctgagcaattcatgTttatctgcaacagctgactt	11	12	9	9	0	2	2	1	2	1	0	2	2	2	2	0	1	4	6	0	1	4	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:117668121T>C	ENST00000521861.1	-	5	704	c.681A>G	c.(679-681)aaA>aaG	p.K227K	EIF3H_ENST00000276682.4_Silent_p.K241K	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	227					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GCAATTCATGTTTATCTGCAA	0.378													29	78					0	0	0	0	C	117668121	T	C	117668121	2	2	231	1	0	0	0	0	0	0	0	1	5056	1722	60	5		5	EIF3H	8	117668121	Silent	SNP	T	TCGA-CV-5440-01A-01D-1512-08	12666586	117668121	28695901	46	42012											
DERL1	79139	broad.mit.edu	37	chr8	124042859	124042859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatacctgtttcaagtcgcGtagaatactgatataagaaa	16	11	7	7	2	1	3	1	1	0	2	2	3	1	3	1	0	2	2	1	0	8	6			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:124042859G>A	ENST00000259512.4	-	2	551	c.251C>T	c.(250-252)aCg>aTg	p.T84M	DERL1_ENST00000405944.3_Missense_Mutation_p.T84M|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000419562.2_Intron	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	84					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCAAGTCGCGTAGAATACTG	0.373													7	49					0	0	0	0	A	124042859	G	A	124042859	3	1	231	1	0	0	0	0	1	0	0	0	4483	1145	40	1	532	1	DERL1	8	124042859	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	6374738	124042859	22321163	47	42013											
KIAA0196	9897	broad.mit.edu	37	chr8	126062854	126062854	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcagggcaaaggcaacGcgcttcacaagctctttcct	10	9	9	13	2	2	0	1	0	1	0	3	0	3	0	1	2	3	5	1	2	4	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:126062854G>A	ENST00000318410.7	-	18	2500	c.2151C>T	c.(2149-2151)cgC>cgT	p.R717R	KIAA0196_ENST00000517845.1_Silent_p.R569R	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	717					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAAAGGCAACGCGCTTCACAA	0.483													10	58					0	0	0	0	A	126062854	G	A	126062854	2	1	231	1	0	0	0	0	0	0	0	1	8212	1074	38	1		1	KIAA0196	8	126062854	Silent	SNP	G	TCGA-CV-5440-01A-01D-1512-08	2019995	126062854	20301168	48	42014											
SMARCA2	6595	broad.mit.edu	37	chr9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-																															agcaacaacagcagcagcaaCagcagcagcagcagcagcag																								rs113070757	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)del	p.Q238del	SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407).	chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635													10	30	---	---	---	---					-	2039779	CAG	-	2039777	7	5	231	1	0	1	0	1	0	0	0	0	14857	479	17	0	677	0	SMARCA2	9	2039777	In_Frame_Del	DEL	CAG	TCGA-CV-5440-01A-01D-1512-08		2039777	139173654	49	42015											
CDKN2A	1029	broad.mit.edu	37	chr9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctcccgggcagcgtcgtGcacgggtcgggtgagagtgg	4	6	19	12	5	0	1	0	1	0	1	3	2	1	1	2	4	2	2	2	4	0	0	rs121913385		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:21971111G>A	ENST00000579755.1	-	2	582	c.290C>T	c.(289-291)gCa>gTa	p.A97V	CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> R (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			31	7					0	0	0	0	A	21971111	G	A	21971111	3	1	231	1	0	0	0	0	1	0	0	0	3190	1319	46	4	231	4	CDKN2A	9	21971111	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	19931334	21971111	119242320	50	42016											
SMC5	23137	broad.mit.edu	37	chr9	72933828	72933829	+	Frame_Shift_Ins	INS	-	-	A																															aagaaggagcttcttgagagINSaaaaaccaagaaaagacaac																										TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:72933828_72933829insA	ENST00000361138.5	+	15	2157_2158	c.2099_2100insA	c.(2098-2100)aaafs	p.K700fs		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	700					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CTTCTTGAGAGAAAAACCAAGA	0.406													8	10	---	---	---	---					A	72933829	-	A	72933828	7	5	231	1	0	1	1	0	0	0	0	0	14874	942	33	0	2157	0	SMC5	9	72933828	Frame_Shift_Ins	INS	-	TCGA-CV-5440-01A-01D-1512-08	50962717	72933828	68279603	51	42017											
TMEM2	23670	broad.mit.edu	37	chr9	74327069	74327069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggaattcttcatgaggaagCcaattgcactgctgtaccta	12	11	9	9	0	2	1	1	1	1	0	2	3	2	3	2	2	4	3	2	2	5	5			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:74327069C>A	ENST00000377044.4	-	16	3238	c.2699G>T	c.(2698-2700)gGc>gTc	p.G900V	TMEM2_ENST00000377066.5_Missense_Mutation_p.G837V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	900						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CATGAGGAAGCCAATTGCACT	0.428													54	9					7.77372e-23	8.98521e-23	1	0	A	74327069	C	A	74327069	3	1	231	1	0	0	0	0	1	0	0	0	16215	739	26	4	1488	4	TMEM2	9	74327069	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	1393241	74327069	66886362	52	42018											
TLE4	7091	broad.mit.edu	37	chr9	82333859	82333859	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagccacccaggcaataaGagtcctgtctcccagctcga	11	7	8	15	1	2	1	1	0	1	1	5	2	3	1	4	1	2	2	4	1	2	1			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:82333859G>A	ENST00000376520.4	+	16	2487	c.1659G>A	c.(1657-1659)aaG>aaA	p.K553K	TLE4_ENST00000376544.3_Silent_p.K452K|TLE4_ENST00000265284.6_Silent_p.K496K|TLE4_ENST00000376534.4_Silent_p.K158K|TLE4_ENST00000376552.2_Silent_p.K521K|TLE4_ENST00000376537.4_Silent_p.K553K			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGGCAATAAGAGTCCTGTCT	0.542													9	55					0	0	0	0	A	82333859	G	A	82333859	2	1	231	1	0	0	0	0	0	0	0	1	16035	933	33	2		2	TLE4	9	82333859	Silent	SNP	G	TCGA-CV-5440-01A-01D-1512-08	8006790	82333859	58879572	53	42019											
SYK	6850	broad.mit.edu	37	chr9	93641137	93641137	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaattttgtgcacagagatCtggctgcaagaaatgtgttg	11	12	12	6	0	1	2	0	0	1	2	1	3	1	2	0	1	2	5	0	1	3	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:93641137C>T	ENST00000375754.4	+	11	1631	c.1483C>T	c.(1483-1485)Ctg>Ttg	p.L495L	SYK_ENST00000375751.4_Silent_p.L472L|SYK_ENST00000375746.1_Silent_p.L495L|SYK_ENST00000375747.1_Silent_p.L472L	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	495	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCACAGAGATCTGGCTGCAAG	0.433			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								16	64					0	0	0	0	T	93641137	C	T	93641137	2	4	231	1	0	0	0	0	0	0	0	1	15529	912	32	2		2	SYK	9	93641137	Silent	SNP	C	TCGA-CV-5440-01A-01D-1512-08	11307278	93641137	47572294	54	42020											
ZNF510	22869	broad.mit.edu	37	chr9	99521412	99521412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgaatggtttctctcccGtgtgagttttctgatgttga	6	19	10	6	1	2	4	0	4	2	0	4	4	3	4	1	1	0	3	1	1	1	5	rs141866339	by1000genomes	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:99521412G>A	ENST00000375231.1	-	6	2350	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M	ZNF510_ENST00000223428.4_Missense_Mutation_p.T567M			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTTCTCTCCCGTGTGAGTTTT	0.418													33	42					0	0	0	0	A	99521412	G	A	99521412	3	1	231	1	0	0	0	0	1	0	0	0	18049	1145	40	1	355	1	ZNF510	9	99521412	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	5880275	99521412	41692019	55	42021											
TBC1D2	55357	broad.mit.edu	37	chr9	100971314	100971314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcggccgatccacagcctCgaggcccagcaggtggtggg	7	4	16	14	3	0	0	0	0	0	0	2	2	1	0	4	5	3	1	4	5	0	0			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:100971314C>T	ENST00000375066.5	-	9	1877	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	TBC1D2_ENST00000342112.5_Missense_Mutation_p.E378K|TBC1D2_ENST00000375064.1_Missense_Mutation_p.E596K|TBC1D2_ENST00000375063.1_Missense_Mutation_p.E136K|TBC1D2_ENST00000493589.2_5'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	596						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TCCACAGCCTCGAGGCCCAGC	0.647													11	212					0	0	0	0	T	100971314	C	T	100971314	3	4	231	1	0	0	0	0	1	0	0	0	15699	893	31	1	987	1	TBC1D2	9	100971314	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	1449902	100971314	40242117	56	42022											
COL15A1	1306	broad.mit.edu	37	chr9	101788189	101788189	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcactgatgttccccagggcCctgagggacagcctggagtt	7	9	13	12	0	1	2	1	2	0	0	2	4	2	4	4	3	1	2	4	3	0	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:101788189C>G	ENST00000375001.3	+	16	2407	c.1984C>G	c.(1984-1986)Cct>Gct	p.P662A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	662	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCCCAGGGCCCTGAGGGACA	0.577													10	3					0	0	0	0	G	101788189	C	G	101788189	3	3	231	1	0	0	0	0	1	0	0	0	3702	623	22	4	2046	4	COL15A1	9	101788189	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	816875	101788189	39425242	57	42023											
SNX30	401548	broad.mit.edu	37	chr9	115598539	115598539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatagcattgctgaccagaAtgggcgagtcagtcaagcac	12	7	13	9	1	2	2	2	1	0	1	2	4	2	3	1	2	3	3	1	2	3	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:115598539A>G	ENST00000374232.3	+	5	828	c.664A>G	c.(664-666)Atg>Gtg	p.M222V		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	222					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GCTGACCAGAATGGGCGAGTC	0.507													100	20					0	0	0	0	G	115598539	A	G	115598539	3	3	231	1	0	0	0	0	1	0	0	0	14988	101	4	5	682	5	SNX30	9	115598539	Missense_Mutation	SNP	A	TCGA-CV-5440-01A-01D-1512-08	13810350	115598539	25614892	58	42024											
ALAD	210	broad.mit.edu	37	chr9	116150610	116150610	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagccactgcagcagctgCggtgtgtagtaggtgatgat	8	11	14	8	1	1	2	1	2	0	0	1	2	1	2	1	2	5	5	1	2	2	3	rs35581515		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:116150610C>T	ENST00000409155.3	-	12	1159	c.963G>A	c.(961-963)ccG>ccA	p.P321P	ALAD_ENST00000277315.5_Silent_p.P304P	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	321					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GCAGCAGCTGCGGTGTGTAGT	0.532													4	115					0	0	0	0	T	116150610	C	T	116150610	2	4	231	1	0	0	0	0	0	0	0	1	483	755	27	1		1	ALAD	9	116150610	Silent	SNP	C	TCGA-CV-5440-01A-01D-1512-08	552071	116150610	25062821	59	42025											
DENND1A	57706	broad.mit.edu	37	chr9	126319866	126319866	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccggctcgattttcagagCgtttcggtagctaccgaaga	9	10	11	11	5	1	2	1	0	0	2	3	4	1	2	2	2	3	4	2	2	3	5			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:126319866C>A	ENST00000373624.2	-	13	1177	c.976G>T	c.(976-978)Gct>Tct	p.A326S	DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000373620.3_Missense_Mutation_p.A326S|DENND1A_ENST00000373618.1_Missense_Mutation_p.A294S|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.A294S|DENND1A_ENST00000394215.2_Missense_Mutation_p.A296S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	326	dDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						ATTTTCAGAGCGTTTCGGTAG	0.547													11	20					4.68919e-08	5.05864e-08	1	0	A	126319866	C	A	126319866	3	1	231	1	0	0	0	0	1	0	0	0	4463	768	27	3	2200	3	DENND1A	9	126319866	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	10169256	126319866	14893565	60	42026											
ABO	28	broad.mit.edu	37	chr9	136132863	136132863	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaactgctcgttgaggatgtCgatgttgaatgtgccctccc	7	12	12	10	2	0	2	0	2	0	0	3	5	1	3	2	1	3	3	2	1	2	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:136132863C>T	ENST00000453660.2	-	0	317							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TTGAGGATGTCGATGTTGAAT	0.552													3	45					0	0	0	0	T	136132863	C	T	136132863	1	4	231	0	1	0	0	0	0	0	0	0	97	871	31	1		1	ABO	9	136132863	RNA	SNP	C	TCGA-CV-5440-01A-01D-1512-08	9812997	136132863	5080568	61	42027											
C9orf172	389813	broad.mit.edu	37	chr9	139741083	139741083	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caccgcgctttctcgcgcatCgcgcgtgtcggcttcctgtc	2	11	11	17	8	1	0	0	0	1	0	6	0	2	0	2	1	0	3	2	1	0	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:139741083C>G	ENST00000436881.1	+	1	2217	c.2217C>G	c.(2215-2217)atC>atG	p.I739M		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	739										endometrium(2)|large_intestine(1)|lung(6)	9						TCTCGCGCATCGCGCGTGTCG	0.706													3	13					0	0	0	0	G	139741083	C	G	139741083	3	3	231	1	0	0	0	0	1	0	0	0	2496	874	31	3	2219	3	C9orf172	9	139741083	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	3608220	139741083	1472348	62	42028											
RET	5979	broad.mit.edu	37	chr10	43601966	43601966	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaacactggcccaacgAgacctcggtccaggccaacg	10	4	13	14	3	0	1	0	0	0	1	2	3	1	2	4	5	3	0	4	5	3	0			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:43601966A>T	ENST00000355710.3	+	5	1242	c.1010A>T	c.(1009-1011)gAg>gTg	p.E337V	RET_ENST00000340058.5_Missense_Mutation_p.E337V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	337					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TGGCCCAACGAGACCTCGGTC	0.652		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				6	11					0	0	0	0	T	43601966	A	T	43601966	3	4	231	1	0	0	0	0	1	0	0	0	13317	304	11	5	1028	5	RET	10	43601966	Missense_Mutation	SNP	A	TCGA-CV-5440-01A-01D-1512-08		43601966	91932781	63	42029											
RASSF4	83937	broad.mit.edu	37	chr10	45479530	45479530	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccaagcattcagccagtGcacaaggctgagagttccac	11	6	12	12	0	1	1	1	1	0	1	2	2	2	1	3	2	3	4	3	2	2	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:45479530G>T	ENST00000334940.6	+	5	503	c.369G>T	c.(367-369)gtG>gtT	p.V123V	RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000340258.4_Silent_p.V114V|RASSF4_ENST00000472561.1_Intron			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	114					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTCAGCCAGTGCACAAGGCTG	0.622													4	5					0.0215528	0.0216745	1	0	T	45479530	G	T	45479530	2	4	231	1	0	0	0	0	0	0	0	1	13170	1306	46	4		4	RASSF4	10	45479530	Silent	SNP	G	TCGA-CV-5440-01A-01D-1512-08	1877564	45479530	90055217	64	42030											
FAM21C	253725	broad.mit.edu	37	chr10	46222872	46222872	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttcgctgcagatgaaccGgacgacccccgaccaggagc	9	7	11	14	4	0	2	0	1	0	1	1	6	0	4	4	2	3	2	4	2	1	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:46222872G>C	ENST00000336378.4	+	2	129	c.11G>C	c.(10-12)cGg>cCg	p.R4P	FAM21C_ENST00000359860.4_Missense_Mutation_p.R3P|FAM21C_ENST00000540872.1_Missense_Mutation_p.R4P|FAM21C_ENST00000537517.1_Missense_Mutation_p.R4P|FAM21C_ENST00000374362.2_Missense_Mutation_p.R4P	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	4										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CAGATGAACCGGACGACCCCC	0.721													3	13					0	0	0	0	C	46222872	G	C	46222872	3	2	231	1	0	0	0	0	1	0	0	0	5585	1116	39	3	17	3	FAM21C	10	46222872	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	743342	46222872	89311875	65	42031											
ARID5B	84159	broad.mit.edu	37	chr10	63851485	63851485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatcagtgattcagcacGtccagagtttcagaagcaag	12	8	11	10	1	3	3	3	1	0	2	4	3	4	3	2	1	2	3	2	1	2	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:63851485G>A	ENST00000279873.7	+	10	2673	c.2263G>A	c.(2263-2265)Gtc>Atc	p.V755I	ARID5B_ENST00000309334.5_Missense_Mutation_p.V512I	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	755					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GATTCAGCACGTCCAGAGTTT	0.512													5	90					0	0	0	0	A	63851485	G	A	63851485	3	1	231	1	0	0	0	0	1	0	0	0	924	1145	40	1	2301	1	ARID5B	10	63851485	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	17628613	63851485	71683262	66	42032											
ZNF365	22891	broad.mit.edu	37	chr10	64425946	64425946	+	Frame_Shift_Del	DEL	C	C	-																															cttcttacactaggacaactCcaaaattgtgtgattggtaa																										TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:64425946delC	ENST00000410046.3	+	7	1558	c.1278delC	c.(1276-1278)ctfs	p.L426fs	ZNF365_ENST00000395251.1_Frame_Shift_Del_p.L180fs|ZNF365_ENST00000395249.1_Frame_Shift_Del_p.L32fs	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	180										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAGGACAACTCCAAAATTGTG	0.413													7	22	---	---	---	---					-	64425946	C	-	64425946	7	5	231	1	0	1	0	1	0	0	0	0	17964	842	30	0	2036	0	ZNF365	10	64425946	Frame_Shift_Del	DEL	C	TCGA-CV-5440-01A-01D-1512-08	574461	64425946	71108801	67	42033											
TTC18	118491	broad.mit.edu	37	chr10	75051479	75051479	+	Missense_Mutation	SNP	C	C	T																															ttctgcttgctcatagttctCcaacaggacagccaggacac																										TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:75051479C>T	ENST00000401621.2	-	19	2269	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	TTC18_ENST00000394865.1_Missense_Mutation_p.E717K|TTC18_ENST00000355577.3_Missense_Mutation_p.E186K|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000310715.3_Missense_Mutation_p.E717K|TTC18_ENST00000493787.1_5'UTR			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	717							binding	p.E717K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCATAGTTCTCCAACAGGACA	0.408													5	20					0	0	0	0	T	75051479	C	T	75051479	3	4	231	1	0	0	0	0	1	0	0	0	16781	864	30	2	1256	2	TTC18	10	75051479	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	10625533	75051479	60483268	68	42034	322	2									
TTC18	118491	broad.mit.edu	37	chr10	75051480	75051480	+	Silent	SNP	C	C	T																															tctgcttgctcatagttctcCaacaggacagccaggacacc																										TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:75051480C>T	ENST00000401621.2	-	19	2268	c.2148G>A	c.(2146-2148)ttG>ttA	p.L716L	TTC18_ENST00000394865.1_Silent_p.L716L|TTC18_ENST00000355577.3_Silent_p.L185L|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000310715.3_Silent_p.L716L|TTC18_ENST00000493787.1_5'UTR			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	716							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CATAGTTCTCCAACAGGACAG	0.408													5	21					0	0	0	0	T	75051480	C	T	75051480	2	4	231	1	0	0	0	0	0	0	0	1	16781	593	21	4		4	TTC18	10	75051480	Silent	SNP	C	TCGA-CV-5440-01A-01D-1512-08	1	75051480	60483267	69	42035	322	2									
CNNM1	26507	broad.mit.edu	37	chr10	101117299	101117299	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccattgtccagcgggTgaataatgagggagaagggg	10	7	17	7	1	0	3	0	2	0	1	1	4	1	3	3	5	1	0	3	5	3	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101117299T>A	ENST00000356713.4	+	2	1893	c.1604T>A	c.(1603-1605)gTg>gAg	p.V535E	CNNM1_ENST00000446890.1_Missense_Mutation_p.V464E|CNNM1_ENST00000370534.4_Missense_Mutation_p.V170E|CNNM1_ENST00000370528.3_Missense_Mutation_p.V464E	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	535	CBS 2.				ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GTCCAGCGGGTGAATAATGAG	0.433													6	13					0	0	0	0	A	101117299	T	A	101117299	3	1	231	1	0	0	0	0	1	0	0	0	3642	1696	59	5	1610	5	CNNM1	10	101117299	Missense_Mutation	SNP	T	TCGA-CV-5440-01A-01D-1512-08	26065819	101117299	34417448	70	42036											
DNMBP	23268	broad.mit.edu	37	chr10	101639864	101639864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggatttagggatgcactgaGagttccttggtcacattctt	8	14	11	8	1	2	1	1	1	1	1	3	4	3	3	1	3	1	2	1	3	1	6			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101639864G>C	ENST00000342239.3	-	16	4415	c.4324C>G	c.(4324-4326)Ctc>Gtc	p.L1442V	DNMBP_ENST00000543621.1_Missense_Mutation_p.L664V|DNMBP_ENST00000540316.1_Missense_Mutation_p.L354V|DNMBP_ENST00000324109.4_Missense_Mutation_p.L1418V			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1418	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GATGCACTGAGAGTTCCTTGG	0.537													16	78					0	0	0	0	C	101639864	G	C	101639864	3	2	231	1	0	0	0	0	1	0	0	0	4710	942	33	2	489	2	DNMBP	10	101639864	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	522565	101639864	33894883	71	42037											
DNMBP	23268	broad.mit.edu	37	chr10	101715220	101715220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccctccttttctaaggtctCacaggtaggacggtgtcgag	7	11	12	11	2	2	0	1	0	2	0	5	2	3	1	2	4	0	1	2	4	2	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101715220C>G	ENST00000342239.3	-	4	2102	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.E671Q			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	671					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTAAGGTCTCACAGGTAGGA	0.597													9	32					0	0	0	0	G	101715220	C	G	101715220	3	3	231	1	0	0	0	0	1	0	0	0	4710	835	29	2	2778	2	DNMBP	10	101715220	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	75356	101715220	33819527	72	42038											
DNMBP	23268	broad.mit.edu	37	chr10	101715433	101715433	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctttctcctttccggcagctCctgctcggtgattaactttg	4	16	8	13	2	1	1	0	1	1	0	5	1	3	1	3	2	3	3	3	2	1	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101715433C>G	ENST00000342239.3	-	4	1889	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.E600Q			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	600					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCCGGCAGCTCCTGCTCGGTG	0.502													9	36					0	0	0	0	G	101715433	C	G	101715433	3	3	231	1	0	0	0	0	1	0	0	0	4710	864	30	2	2991	2	DNMBP	10	101715433	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	213	101715433	33819314	73	42039											
SMC3	9126	broad.mit.edu	37	chr10	112343699	112343701	+	In_Frame_Del	DEL	AAG	AAG	-																															attcaacagtgtgaaagagaAagaagaacgaggaattgcta																										TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:112343699_112343701delAAG	ENST00000361804.4	+	12	1196_1198	c.1070_1072delAAG	c.(1069-1074)aaa>a	p.KE357del		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	357					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTGAAAGAGAAAGAAGAACGAGG	0.36													8	25	---	---	---	---					-	112343701	AAG	-	112343699	7	5	231	1	0	1	0	1	0	0	0	0	14872	14	1	0	1116	0	SMC3	10	112343699	In_Frame_Del	DEL	AAG	TCGA-CV-5440-01A-01D-1512-08	10628266	112343699	23191048	74	42040											
TIAL1	7073	broad.mit.edu	37	chr10	121339445	121339445	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaattgagatggaagaacgtAccagtttgttataaaaagat	18	11	9	3	1	0	3	0	1	0	3	0	5	0	4	1	1	2	3	1	1	8	5			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:121339445A>T	ENST00000369092.4	-	7	1387		c.e7+1		TIAL1_ENST00000369093.2_Splice_Site|TIAL1_ENST00000436547.2_Splice_Site			Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1						apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GGAAGAACGTACCAGTTTGTT	0.313													4	6					0	0	0	0	T	121339445	A	T	121339445	5	4	231	1	0	0	0	0	0	0	1	0	15983	405	14	5	706	5	TIAL1	10	121339445	Splice_Site	SNP	A	TCGA-CV-5440-01A-01D-1512-08	8995746	121339445	14195302	75	42041											
MICALCL	84953	broad.mit.edu	37	chr11	12379876	12379876	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaaggatctaaacgaagaGcaagaagtattcaccgagct	17	6	11	7	2	2	3	1	0	1	3	2	7	2	4	1	1	3	3	1	1	7	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:12379876G>A	ENST00000256186.2	+	9	2229	c.1938G>A	c.(1936-1938)gaG>gaA	p.E646E		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	646					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TAAACGAAGAGCAAGAAGTAT	0.473													34	72					0	0	0	0	A	12379876	G	A	12379876	2	1	231	1	0	0	0	0	0	0	0	1	9641	962	34	4		4	MICALCL	11	12379876	Silent	SNP	G	TCGA-CV-5440-01A-01D-1512-08		12379876	122626640	76	42042											
LRP4	4038	broad.mit.edu	37	chr11	46911618	46911618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgctcttggtgtgccagtCtgtccagtacaggctgtctt	5	14	12	10	0	3	0	0	0	3	0	4	1	4	0	2	2	3	3	2	2	1	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:46911618C>T	ENST00000378623.1	-	15	2211	c.1969G>A	c.(1969-1971)Gac>Aac	p.D657N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	657					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTGTGCCAGTCTGTCCAGTAC	0.517											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	89					0	0	0	0	T	46911618	C	T	46911618	3	4	231	1	0	0	0	0	1	0	0	0	9023	913	32	2	3844	2	LRP4	11	46911618	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	34531742	46911618	88094898	77	42043											
OR4C12	283093	broad.mit.edu	37	chr11	50003589	50003589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatagttgcatgaagaaatCctcccacccaggccactgcc	12	7	8	14	0	0	2	0	1	0	1	2	3	2	2	5	1	2	2	5	1	4	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:50003589C>A	ENST00000335238.4	-	1	482	c.449G>T	c.(448-450)gGa>gTa	p.G150V		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ATGAAGAAATCCTCCCACCCA	0.498													62	100					5.52965e-18	6.26928e-18	1	0	A	50003589	C	A	50003589	3	1	231	1	0	0	0	0	1	0	0	0	11117	855	30	2	484	2	OR4C12	11	50003589	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	3091971	50003589	85002927	78	42044											
ADRBK1	156	broad.mit.edu	37	chr11	67044773	67044773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgcagaagtacctggaGgaccggggcgaggtgacctt	9	7	16	9	2	1	2	1	1	0	1	1	5	1	4	3	5	2	2	3	5	2	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:67044773G>A	ENST00000308595.5	+	2	434	c.144G>A	c.(142-144)gaG>gaA	p.E48E	ADRBK1_ENST00000526285.1_Silent_p.E48E	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	48	N-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGTACCTGGAGGACCGGGGCG	0.617													4	162					0	0	0	0	A	67044773	G	A	67044773	2	1	231	1	0	0	0	0	0	0	0	1	343	991	35	4		4	ADRBK1	11	67044773	Silent	SNP	G	TCGA-CV-5440-01A-01D-1512-08	17041184	67044773	67961743	79	42045											
DLG2	1740	broad.mit.edu	37	chr11	83641505	83641505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacatagtttgttcacagtGctgtaaacaggttccggagg	10	12	11	8	1	2	0	2	0	0	0	3	1	3	1	1	3	2	5	1	3	3	5			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:83641505G>T	ENST00000398309.2	-	10	1517	c.1047C>A	c.(1045-1047)agC>agA	p.S349R	DLG2_ENST00000543673.1_Missense_Mutation_p.S454R|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.S103R|DLG2_ENST00000330014.6_Missense_Mutation_p.S288R|DLG2_ENST00000532653.1_Missense_Mutation_p.S349R|DLG2_ENST00000524982.1_Missense_Mutation_p.S349R|DLG2_ENST00000531015.1_Missense_Mutation_p.S316R|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000376104.2_Missense_Mutation_p.S454R|DLG2_ENST00000398301.2_Missense_Mutation_p.S388R|DLG2_ENST00000280241.8_Missense_Mutation_p.S388R	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	349						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTTCACAGTGCTGTAAACAG	0.483													20	8					1.2644e-06	1.33967e-06	1	0	T	83641505	G	T	83641505	3	4	231	1	0	0	0	0	1	0	0	0	4592	1310	46	4	1671	4	DLG2	11	83641505	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	16596732	83641505	51365011	80	42046											
MTNR1B	4544	broad.mit.edu	37	chr11	92714995	92714995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagcacccagtacacggcGgcagtggtggtcatccactt	8	7	12	14	2	1	0	1	0	0	0	2	0	2	0	3	4	2	3	3	4	1	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:92714995G>A	ENST00000257068.2	+	2	612	c.606G>A	c.(604-606)gcG>gcA	p.A202A		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	202					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AGTACACGGCGGCAGTGGTGG	0.607													21	7					0	0	0	0	A	92714995	G	A	92714995	2	1	231	1	0	0	0	0	0	0	0	1	10022	1103	39	1		1	MTNR1B	11	92714995	Silent	SNP	G	TCGA-CV-5440-01A-01D-1512-08	9073490	92714995	42291521	81	42047											
PRDM10	56980	broad.mit.edu	37	chr11	129794994	129794994	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatcacaggtcagtgggCagttcccctcccgcccatgg	8	7	12	14	1	2	1	2	0	0	1	4	2	4	1	4	3	0	2	4	3	0	1			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:129794994C>A	ENST00000358825.5	-	13	1904	c.1673G>T	c.(1672-1674)tGc>tTc	p.C558F	PRDM10_ENST00000526082.1_Missense_Mutation_p.C472F|PRDM10_ENST00000528746.1_Missense_Mutation_p.C528F|PRDM10_ENST00000360871.3_Missense_Mutation_p.C554F|PRDM10_ENST00000423662.2_Missense_Mutation_p.C472F|PRDM10_ENST00000304538.6_Missense_Mutation_p.C468F	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGTCAGTGGGCAGTTCCCCTC	0.527													40	25					3.09479e-21	3.55401e-21	1	0	A	129794994	C	A	129794994	3	1	231	1	0	0	0	0	1	0	0	0	12531	710	25	4	1849	4	PRDM10	11	129794994	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	37079999	129794994	5211522	82	42048											
CHD4	1108	broad.mit.edu	37	chr12	6691342	6691342	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ataacaccaattctagtaagGacatgctggcgagacaggcc	14	7	10	10	1	1	1	0	0	1	1	1	3	1	2	2	3	2	2	2	3	4	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:6691342G>C	ENST00000309577.6	-	29	4723	c.4560C>G	c.(4558-4560)gtC>gtG	p.V1520V	CHD4_ENST00000544484.1_Silent_p.V1517V|CHD4_ENST00000544040.1_Silent_p.V1485V|CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000357008.2_Silent_p.V1492V			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1492					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTCTAGTAAGGACATGCTGGC	0.542													8	55					0	0	0	0	C	6691342	G	C	6691342	2	2	231	1	0	0	0	0	0	0	0	1	3356	1161	41	2		2	CHD4	12	6691342	Silent	SNP	G	TCGA-CV-5440-01A-01D-1512-08		6691342	127160553	83	42049											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	RNA	INS	-	-	C																															acaagatcggaggccgtagtINSttattgtggtgctggaaggg																								rs36063533		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													11	21	---	---	---	---					C	7080213	-	C	7080212	6	5	231	0	1	1	1	0	0	0	0	0	5128	1722	60	0		0	EMG1	12	7080212	RNA	INS	-	TCGA-CV-5440-01A-01D-1512-08	388870	7080212	126771683	84	42050											
RERG	85004	broad.mit.edu	37	chr12	15262053	15262053	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgggctgcctaactactGattttggtgagcatcttgtt	7	15	11	8	0	1	2	0	2	1	0	1	2	1	2	1	2	5	4	1	2	2	6			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:15262053G>A	ENST00000256953.2	-	5	927	c.591C>T	c.(589-591)atC>atT	p.I197I	RERG_ENST00000538313.1_Silent_p.I197I|RERG_ENST00000536465.1_Silent_p.I197I|RERG_ENST00000546331.1_Silent_p.I178I	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	197					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	p.I197I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CCTAACTACTGATTTTGGTGA	0.493													16	220					0	0	0	0	A	15262053	G	A	15262053	2	1	231	1	0	0	0	0	0	0	0	1	13314	1280	45	2		2	RERG	12	15262053	Silent	SNP	G	TCGA-CV-5440-01A-01D-1512-08	8181841	15262053	118589842	85	42051											
PAN2	9924	broad.mit.edu	37	chr12	56721836	56721836	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtctcatgatggtgacTccaggcgtctctactgcata	7	13	10	11	1	3	2	1	2	3	0	6	2	4	2	1	2	2	1	1	2	2	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:56721836T>A	ENST00000425394.2	-	5	970	c.594A>T	c.(592-594)ggA>ggT	p.G198G	PAN2_ENST00000257931.5_Silent_p.G198G|PAN2_ENST00000548043.1_Silent_p.G198G|PAN2_ENST00000440411.3_Silent_p.G198G	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	198					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGATGGTGACTCCAGGCGTCT	0.517													12	19					0	0	0	0	A	56721836	T	A	56721836	2	1	231	1	0	0	0	0	0	0	0	1	11485	1538	54	5		5	PAN2	12	56721836	Silent	SNP	T	TCGA-CV-5440-01A-01D-1512-08	41459783	56721836	77130059	86	42052											
NAV3	89795	broad.mit.edu	37	chr12	78562566	78562566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatagaactaagagaaaccaTtgaaatgctgaaggctcaga	18	8	9	6	0	1	5	1	2	0	3	1	6	1	5	1	1	3	2	1	1	7	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:78562566T>C	ENST00000397909.2	+	24	5074	c.4901T>C	c.(4900-4902)aTt>aCt	p.I1634T	NAV3_ENST00000536525.2_Missense_Mutation_p.I1634T|NAV3_ENST00000266692.7_Missense_Mutation_p.I1457T|NAV3_ENST00000228327.6_Missense_Mutation_p.I1634T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1634						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAGAAACCATTGAAATGCTG	0.413										HNSCC(70;0.22)			8	41					0	0	0	0	C	78562566	T	C	78562566	3	2	231	1	0	0	0	0	1	0	0	0	10255	1493	52	5	4995	5	NAV3	12	78562566	Missense_Mutation	SNP	T	TCGA-CV-5440-01A-01D-1512-08	21840730	78562566	55289329	87	42053											
ACSS3	79611	broad.mit.edu	37	chr12	81503433	81503433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgctatcatctatgacagtCctgttacaaacactaaagca	14	12	5	10	0	2	1	1	1	1	0	3	1	3	1	1	0	4	3	1	0	6	5			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:81503433C>T	ENST00000548058.1	+	2	1316	c.406C>T	c.(406-408)Cct>Tct	p.P136S	ACSS3_ENST00000261206.3_Missense_Mutation_p.P135S|RP11-543H12.1_ENST00000547123.1_RNA			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	136						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTATGACAGTCCTGTTACAAA	0.318													7	24					0	0	0	0	T	81503433	C	T	81503433	3	4	231	1	0	0	0	0	1	0	0	0	190	855	30	2	412	2	ACSS3	12	81503433	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	2940867	81503433	52348462	88	42054											
PPFIA2	8499	broad.mit.edu	37	chr12	81762520	81762520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttttcttctagagcaGccattctttcctttaagtgt	7	19	5	10	0	3	1	0	0	3	1	4	1	4	1	3	0	3	1	3	0	3	9			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:81762520G>C	ENST00000550584.2	-	12	1761	c.1466C>G	c.(1465-1467)gCt>gGt	p.A489G	PPFIA2_ENST00000443686.3_Missense_Mutation_p.A390G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A471G|PPFIA2_ENST00000549396.1_Missense_Mutation_p.A489G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.A56G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.A336G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A489G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000407050.4_Missense_Mutation_p.A415G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A471G|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A489G	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	415										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTCTAGAGCAGCCATTCTTTC	0.353													12	70					0	0	0	0	C	81762520	G	C	81762520	3	2	231	1	0	0	0	0	1	0	0	0	12381	971	34	4	2387	4	PPFIA2	12	81762520	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	259087	81762520	52089375	89	42055											
RNF17	56163	broad.mit.edu	37	chr13	25451309	25451309	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcttcaaggaaaacaactCtatgctgtgtccatggtaag	12	12	9	8	0	3	0	1	0	2	0	4	1	4	1	1	2	3	2	1	2	6	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:25451309C>G	ENST00000255324.5	+	34	4810	c.4758C>G	c.(4756-4758)ctC>ctG	p.L1586L	RNF17_ENST00000381921.1_Silent_p.L1544L|RNF17_ENST00000339524.3_Silent_p.L596L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1586					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)		GAAAACAACTCTATGCTGTGT	0.418													7	11					0	0	0	0	G	25451309	C	G	25451309	2	3	231	1	0	0	0	0	0	0	0	1	13546	900	32	2		2	RNF17	13	25451309	Silent	SNP	C	TCGA-CV-5440-01A-01D-1512-08		25451309	89718569	90	42056											
BRCA2	675	broad.mit.edu	37	chr13	32914805	32914805	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagacaaaatgtatcaaaaAtacttcctcgtgttgataag	16	12	6	7	1	1	2	1	1	0	1	3	2	2	2	1	0	1	2	1	0	8	6			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:32914805A>G	ENST00000544455.1	+	11	6540	c.6313A>G	c.(6313-6315)Ata>Gta	p.I2105V	BRCA2_ENST00000380152.3_Missense_Mutation_p.I2105V	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2105					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTATCAAAAATACTTCCTCG	0.328			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			13	15					0	0	0	0	G	32914805	A	G	32914805	3	3	231	1	0	0	0	0	1	0	0	0	1507	101	4	5	6351	5	BRCA2	13	32914805	Missense_Mutation	SNP	A	TCGA-CV-5440-01A-01D-1512-08	7463496	32914805	82255073	91	42057											
FNDC3A	22862	broad.mit.edu	37	chr13	49752754	49752754	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagatcttgcttacacagtGaaaaatctcagacgtagtac	15	10	8	8	1	2	3	1	1	2	2	3	4	2	3	0	0	3	3	0	0	6	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:49752754G>A	ENST00000492622.2	+	14	1886	c.1581G>A	c.(1579-1581)gtG>gtA	p.V527V	FNDC3A_ENST00000398316.3_Silent_p.V471V|FNDC3A_ENST00000541916.1_Silent_p.V527V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	527	Fibronectin type-III 3.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTTACACAGTGAAAAATCTCA	0.343													5	34					0	0	0	0	A	49752754	G	A	49752754	2	1	231	1	0	0	0	0	0	0	0	1	6014	1277	45	2		2	FNDC3A	13	49752754	Silent	SNP	G	TCGA-CV-5440-01A-01D-1512-08	16837949	49752754	65417124	92	42058											
ANKRD10	55608	broad.mit.edu	37	chr13	111546470	111546470	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaacctttagacactgaaTtaaaactgagggatcaaaag	18	9	8	6	0	1	3	1	2	0	1	1	4	1	4	1	1	2	1	1	1	8	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:111546470T>A	ENST00000375758.5	-	4	669	c.535A>T	c.(535-537)Att>Ttt	p.I179F	ANKRD10_ENST00000267339.2_Intron|ANKRD10_ENST00000489973.2_5'UTR|ANKRD10_ENST00000310847.4_Missense_Mutation_p.I179F			Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	0										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			AGACACTGAATTAAAACTGAG	0.368													6	39					0	0	0	0	A	111546470	T	A	111546470	3	1	231	1	0	0	0	0	1	0	0	0	638	1508	52	5		5	ANKRD10	13	111546470	Missense_Mutation	SNP	T	TCGA-CV-5440-01A-01D-1512-08	61793716	111546470	3623408	93	42059											
ATP11A	23250	broad.mit.edu	37	chr13	113439477	113439477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagagaattgggtggacaGcaggaccatctacgtgggac	13	6	15	7	1	1	2	0	0	1	2	1	6	1	5	1	4	2	1	1	4	3	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:113439477G>T	ENST00000487903.1	+	2	156	c.68G>T	c.(67-69)aGc>aTc	p.S23I	ATP11A_ENST00000375645.3_Missense_Mutation_p.S23I|ATP11A_ENST00000375630.2_Missense_Mutation_p.S23I|ATP11A_ENST00000283558.8_Missense_Mutation_p.S23I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	23					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGGGTGGACAGCAGGACCATC	0.572											OREG0003855	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	47	37					4.44401e-20	5.07073e-20	1	0	T	113439477	G	T	113439477	3	4	231	1	0	0	0	0	1	0	0	0	1123	971	34	4	74	4	ATP11A	13	113439477	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	1893007	113439477	1730401	94	42060											
PTPN21	11099	broad.mit.edu	37	chr14	88945294	88945294	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagcccttccacgatgttCttcttcccagagagaaggtc	8	10	11	12	1	2	2	0	0	2	2	5	5	4	3	3	2	1	1	3	2	1	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr14:88945294C>T	ENST00000556564.1	-	13	2765	c.2481G>A	c.(2479-2481)aaG>aaA	p.K827K	PTPN21_ENST00000328736.3_Silent_p.K827K	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	827						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCACGATGTTCTTCTTCCCAG	0.647													35	51					0	0	0	0	T	88945294	C	T	88945294	2	4	231	1	0	0	0	0	0	0	0	1	12868	912	32	2		2	PTPN21	14	88945294	Silent	SNP	C	TCGA-CV-5440-01A-01D-1512-08		88945294	18404246	95	42061											
ATXN3	4287	broad.mit.edu	37	chr14	92563179	92563179	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcacaaagtgagccttCttgctaatatttccaaaaga	14	12	7	8	0	1	3	0	2	1	1	2	3	2	3	2	0	3	2	2	0	5	6			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr14:92563179C>A	ENST00000545170.1	-	2	96	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000429774.2_Nonsense_Mutation_p.E10*|ATXN3_ENST00000393287.5_Nonsense_Mutation_p.E10*|ATXN3_ENST00000503767.1_Nonsense_Mutation_p.E10*|ATXN3_ENST00000532032.1_Nonsense_Mutation_p.E10*	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	10	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AGTGAGCCTTCTTGCTAATAT	0.328													16	43					7.07596e-05	7.3228e-05	1	0	A	92563179	C	A	92563179	4	1	231	1	0	0	0	0	0	1	0	0	1217	922	32	2	1097	2	ATXN3	14	92563179	Nonsense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	3617885	92563179	14786361	96	42062											
YY1	7528	broad.mit.edu	37	chr14	100706146	100706146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagagttacctcagcggcGgggccggcgcggcgggcggc	6	3	20	12	7	1	2	1	0	0	2	1	2	1	2	2	7	2	1	2	7	2	1			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr14:100706146G>A	ENST00000262238.4	+	1	825	c.565G>A	c.(565-567)Ggg>Agg	p.G189R		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	189					cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				cctcagcggcggggccggcgc	0.721													5	12					0	0	0	0	A	100706146	G	A	100706146	3	1	231	1	0	0	0	0	1	0	0	0	17603	1116	39	1	567	1	YY1	14	100706146	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	8142967	100706146	6643394	97	42063											
CDAN1	146059	broad.mit.edu	37	chr15	43026218	43026218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctgaaaggagacagcttGagtagagggaggcatcacca	13	6	15	7	0	1	4	1	2	0	2	1	6	1	5	1	4	1	4	1	4	2	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:43026218G>C	ENST00000356231.3	-	8	1308	c.1285C>G	c.(1285-1287)Caa>Gaa	p.Q429E		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	429						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GAGACAGCTTGAGTAGAGGGA	0.468													16	8					0	0	0	0	C	43026218	G	C	43026218	3	2	231	1	0	0	0	0	1	0	0	0	3083	1299	45	2	2482	2	CDAN1	15	43026218	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08		43026218	59505174	98	42064											
CATSPER2	117155	broad.mit.edu	37	chr15	43939313	43939313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaagtttttgaagagaGgacctgttgtctcttaagga	11	14	12	4	0	1	4	0	3	1	1	2	7	1	6	1	2	0	2	1	2	3	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:43939313G>A	ENST00000396879.1	-	5	435	c.323C>T	c.(322-324)cCt>cTt	p.P108L	CATSPER2_ENST00000354127.4_Missense_Mutation_p.P108L|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000321596.5_Missense_Mutation_p.P108L|CATSPER2_ENST00000355438.2_Missense_Mutation_p.P108L|CATSPER2_ENST00000381761.1_Missense_Mutation_p.P114L			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	108					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TTTGAAGAGAGGACCTGTTGT	0.368													29	25					0	0	0	0	A	43939313	G	A	43939313	3	1	231	1	0	0	0	0	1	0	0	0	2713	1000	35	4	1348	4	CATSPER2	15	43939313	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	913095	43939313	58592079	99	42065											
SPG11	80208	broad.mit.edu	37	chr15	44887540	44887540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagatgactgaaagatcctCaaggttccaggtatggtcct	11	10	10	10	0	1	4	1	2	0	2	4	4	4	4	4	3	0	2	4	3	3	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:44887540C>T	ENST00000261866.7	-	26	4568	c.4552G>A	c.(4552-4554)Gag>Aag	p.E1518K	SPG11_ENST00000427534.2_Missense_Mutation_p.E1518K|SPG11_ENST00000558319.1_Missense_Mutation_p.E1518K|SPG11_ENST00000535302.2_Missense_Mutation_p.E1518K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1518					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GAAAGATCCTCAAGGTTCCAG	0.418													28	25					0	0	0	0	T	44887540	C	T	44887540	3	4	231	1	0	0	0	0	1	0	0	0	15131	835	29	2	2839	2	SPG11	15	44887540	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	948227	44887540	57643852	100	42066											
SECISBP2L	9728	broad.mit.edu	37	chr15	49320740	49320740	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaaccactatcactgtcAatgtcggcttcactagcccc	10	10	6	15	1	3	0	3	0	0	0	4	0	3	0	3	1	2	2	3	1	4	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:49320740A>G	ENST00000559471.1	-	5	1067	c.804T>C	c.(802-804)atT>atC	p.I268I	SECISBP2L_ENST00000261847.3_Silent_p.I268I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	268										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TATCACTGTCAATGTCGGCTT	0.512													14	12					0	0	0	0	G	49320740	A	G	49320740	2	3	231	1	0	0	0	0	0	0	0	1	14094	126	5	5		5	SECISBP2L	15	49320740	Silent	SNP	A	TCGA-CV-5440-01A-01D-1512-08	4433200	49320740	53210652	101	42067											
ZNF592	9640	broad.mit.edu	37	chr15	85326988	85326988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacagcagcagcaaaggctCaccgtctgtggctgccagct	9	7	12	13	1	2	1	1	1	1	0	2	1	2	1	2	2	5	6	2	2	1	0			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:85326988C>T	ENST00000299927.3	+	1	1104	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	ZNF592_ENST00000560079.2_Missense_Mutation_p.S361L			Q92610	ZN592_HUMAN	zinc finger protein 592	361					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCAAAGGCTCACCGTCTGTG	0.527													18	40					0	0	0	0	T	85326988	C	T	85326988	3	4	231	1	0	0	0	0	1	0	0	0	18117	838	29	2	1084	2	ZNF592	15	85326988	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	36006248	85326988	17204404	102	42068											
ALPK3	57538	broad.mit.edu	37	chr15	85405871	85405871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgttccccttcagttggaGaagagattgagatgacccct	9	11	10	11	0	1	4	1	2	0	3	2	7	2	4	5	1	0	2	5	1	1	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:85405871G>A	ENST00000258888.5	+	10	4908	c.4741G>A	c.(4741-4743)Gaa>Aaa	p.E1581K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1581					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTCAGTTGGAGAAGAGATTGA	0.572													17	30					0	0	0	0	A	85405871	G	A	85405871	3	1	231	1	0	0	0	0	1	0	0	0	546	943	33	2	4779	2	ALPK3	15	85405871	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	78883	85405871	17125521	103	42069											
ALPK3	57538	broad.mit.edu	37	chr15	85405916	85405916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttgctaagggtctggctGactctggctgctggggggac	4	12	17	8	0	2	1	0	1	2	0	2	2	2	2	0	6	2	5	0	6	1	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:85405916G>A	ENST00000258888.5	+	10	4953	c.4786G>A	c.(4786-4788)Gac>Aac	p.D1596N		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1596	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGGTCTGGCTGACTCTGGCTG	0.582													14	33					0	0	0	0	A	85405916	G	A	85405916	3	1	231	1	0	0	0	0	1	0	0	0	546	1290	45	2	4824	2	ALPK3	15	85405916	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	45	85405916	17125476	104	42070											
PKD1	5310	broad.mit.edu	37	chr16	2164258	2164258	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgccgtcacccgcaggctGaggttggcccggctggcgct	3	7	15	16	5	1	1	1	1	0	0	2	1	2	1	4	5	0	5	4	5	0	1			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:2164258G>C	ENST00000262304.4	-	11	2974	c.2766C>G	c.(2764-2766)ctC>ctG	p.L922L	PKD1_ENST00000423118.1_Silent_p.L922L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	922	PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCGCAGGCTGAGGTTGGCCC	0.672													7	18					0	0	0	0	C	2164258	G	C	2164258	2	2	231	1	0	0	0	0	0	0	0	1	12035	1277	45	2		2	PKD1	16	2164258	Silent	SNP	G	TCGA-CV-5440-01A-01D-1512-08		2164258	88190495	105	42071											
MKL2	57496	broad.mit.edu	37	chr16	14312825	14312825	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagttagtgaatcgccAtctcctgtgactacaaacac	14	9	6	12	1	1	2	0	2	1	0	3	2	1	2	3	0	2	1	3	0	6	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:14312825A>G	ENST00000571589.1	+	8	835	c.663A>G	c.(661-663)ccA>ccG	p.P221P	MKL2_ENST00000574045.1_Silent_p.P221P|MKL2_ENST00000572567.1_Silent_p.P210P|MKL2_ENST00000341243.5_Silent_p.P210P|MKL2_ENST00000573051.1_Silent_p.P170P|MKL2_ENST00000318282.5_Silent_p.P221P	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	210					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGAATCGCCATCTCCTGTGA	0.458													8	28					0	0	0	0	G	14312825	A	G	14312825	2	3	231	1	0	0	0	0	0	0	0	1	9671	204	8	5		5	MKL2	16	14312825	Silent	SNP	A	TCGA-CV-5440-01A-01D-1512-08	12148567	14312825	76041928	106	42072											
PSMB10	5699	broad.mit.edu	37	chr16	67969351	67969351	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcggctggaaccggtcttctAgcaccgccagggccgcgtcc	5	7	13	16	5	2	0	0	0	2	0	4	1	3	1	5	4	2	2	5	4	2	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:67969351A>G	ENST00000573493.1	-	2	90	c.91T>C	c.(91-93)Tag>Cag	p.*31Q	PSMB10_ENST00000358514.4_Missense_Mutation_p.L177P																							CCGGTCTTCTAGCACCGCCAG	0.647													12	37					0	0	0	0	G	67969351	A	G	67969351	4	3	231	1	0	0	0	0	0	0	0	0	12754	420	15	5	303	5	PSMB10	16	67969351	Nonstop_Mutation	SNP	A	TCGA-CV-5440-01A-01D-1512-08	53656526	67969351	22385402	107	42073											
PLCG2	5336	broad.mit.edu	37	chr16	81971422	81971422	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggcgcacgggctacgttCtgcagcctgagagcatgagg	8	7	16	10	3	1	2	0	2	1	1	1	3	1	2	1	3	4	5	1	3	1	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:81971422C>T	ENST00000359376.3	+	28	3326	c.3112C>T	c.(3112-3114)Ctg>Ttg	p.L1038L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1038	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGGCTACGTTCTGCAGCCTGA	0.522													23	21					0	0	0	0	T	81971422	C	T	81971422	2	4	231	1	0	0	0	0	0	0	0	1	12108	912	32	2		2	PLCG2	16	81971422	Silent	SNP	C	TCGA-CV-5440-01A-01D-1512-08	14002071	81971422	8383331	108	42074											
ANKRD11	29123	broad.mit.edu	37	chr16	89350644	89350644	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttgagggccggtcttttGatttcttctttctctcctct	3	21	7	10	1	5	2	0	2	5	0	7	2	6	2	2	2	0	0	2	2	0	7			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:89350644G>C	ENST00000301030.4	-	9	2766	c.2306C>G	c.(2305-2307)tCa>tGa	p.S769*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.S769*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	769	Lys-rich.					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)		CCGGTCTTTTGATTTCTTCTT	0.348													6	30					0	0	0	0	C	89350644	G	C	89350644	4	2	231	1	0	0	0	0	0	1	0	0	639	1294	45	2	5705	2	ANKRD11	16	89350644	Nonsense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	7379222	89350644	1004109	109	42075											
ASPA	443	broad.mit.edu	37	chr17	3392579	3392579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctgagagctgatatcttgGatcaaatgagaaaaatgatt	15	13	9	4	0	3	4	1	4	2	2	3	7	3	5	0	1	1	1	0	1	4	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:3392579G>T	ENST00000263080.2	+	4	735	c.577G>T	c.(577-579)Gat>Tat	p.D193Y	ASPA_ENST00000456349.2_Missense_Mutation_p.D193Y|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	193					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TGATATCTTGGATCAAATGAG	0.328													11	44					0.010729	0.010913	1	0	T	3392579	G	T	3392579	3	4	231	1	0	0	0	0	1	0	0	0	1054	1174	41	2	591	2	ASPA	17	3392579	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08		3392579	77802631	110	42076											
CD68	968	broad.mit.edu	37	chr17	7483025	7483025	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgtgcttttctcgggggcCctgctggggctactggcagg	2	11	17	11	1	1	0	0	0	1	0	2	0	1	0	1	6	3	5	1	6	1	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:7483025C>T	ENST00000250092.6	+	1	241	c.30C>T	c.(28-30)gcC>gcT	p.A10A	CD68_ENST00000380498.6_Silent_p.A10A	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	10						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						TCTCGGGGGCCCTGCTGGGGC	0.637													3	11					0	0	0	0	T	7483025	C	T	7483025	2	4	231	1	0	0	0	0	0	0	0	1	3059	610	22	4		4	CD68	17	7483025	Silent	SNP	C	TCGA-CV-5440-01A-01D-1512-08	4090446	7483025	73712185	111	42077											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	7	6	13	15	3	2	0	2	0	0	0	4	0	3	0	3	3	4	3	3	3	1	0			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:7578403C>T	ENST00000420246.2	-	5	659	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	40					0	0	0	0	T	7578403	C	T	7578403	3	4	231	1	0	0	0	0	1	0	0	0	16476	710	25	4	771	4	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	95378	7578403	73616807	112	42078											
TP53	7157	broad.mit.edu	37	chr17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgcaagaagcccagaCggaaaccgtagctgccctgg	13	4	12	12	2	0	3	0	0	0	3	0	4	0	4	3	2	5	3	3	2	5	1	rs11540654		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:7579358C>A	ENST00000420246.2	-	4	461	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000269305.4_Missense_Mutation_p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAAGCCCAGACGGAAACCGTA	0.612		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			38	44					1.56738e-10	1.72934e-10	1	0	A	7579358	C	A	7579358	3	1	231	1	0	0	0	0	1	0	0	0	16476	536	19	3	973	3	TP53	17	7579358	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	955	7579358	73615852	113	42079											
GLP2R	9340	broad.mit.edu	37	chr17	9774114	9774114	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcttctcatttctaagctCaaagctcatcaaatgtgctt	12	14	5	10	0	5	0	4	0	2	0	6	0	5	0	0	0	4	4	0	0	4	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:9774114C>G	ENST00000262441.5	+	10	1620	c.1107C>G	c.(1105-1107)ctC>ctG	p.L369L	GLP2R_ENST00000574745.1_Silent_p.L189L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	369					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TTTCTAAGCTCAAAGCTCATC	0.398													39	74					0	0	0	0	G	9774114	C	G	9774114	2	3	231	1	0	0	0	0	0	0	0	1	6504	813	29	2		2	GLP2R	17	9774114	Silent	SNP	C	TCGA-CV-5440-01A-01D-1512-08	2194756	9774114	71421096	114	42080											
MYH3	4621	broad.mit.edu	37	chr17	10544406	10544406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtttattacacacctttGtttaaaatcgccatagagaa	14	14	5	8	1	0	1	0	0	0	1	1	2	0	1	2	0	1	2	2	0	6	7			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:10544406G>C	ENST00000583535.1	-	19	2248	c.2161C>G	c.(2161-2163)Caa>Gaa	p.Q721E	MYH3_ENST00000226209.7_Missense_Mutation_p.Q721E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	721	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACACACCTTTGTTTAAAATCG	0.453													13	90					0	0	0	0	C	10544406	G	C	10544406	3	2	231	1	0	0	0	0	1	0	0	0	10106	1386	48	4	3753	4	MYH3	17	10544406	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	770292	10544406	70650804	115	42081											
GGNBP2	79893	broad.mit.edu	37	chr17	34935812	34935812	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacatggcagatgctttTctatcttggtgttgatgctt	7	16	11	7	0	2	3	0	1	2	2	2	3	2	3	0	2	2	5	0	2	1	6			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:34935812T>C	ENST00000304718.4	+	8	1299	c.983T>C	c.(982-984)tTc>tCc	p.F328S		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	328					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CAGATGCTTTTCTATCTTGGT	0.433													26	95					0	0	0	0	C	34935812	T	C	34935812	3	2	231	1	0	0	0	0	1	0	0	0	6410	1783	62	5	1009	5	GGNBP2	17	34935812	Missense_Mutation	SNP	T	TCGA-CV-5440-01A-01D-1512-08	24391406	34935812	46259398	116	42082											
HOXB7	3217	broad.mit.edu	37	chr17	46685394	46685394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagcgattgtagtgaaatTctttctccagctccagggtc	8	13	11	9	1	2	1	0	1	2	0	5	2	3	1	2	2	2	3	2	2	3	5			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:46685394T>C	ENST00000239165.7	-	2	562	c.464A>G	c.(463-465)gAa>gGa	p.E155G	HOXB7_ENST00000567101.1_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	155						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						GTAGTGAAATTCTTTCTCCAG	0.547													42	54					0	0	0	0	C	46685394	T	C	46685394	3	2	231	1	0	0	0	0	1	0	0	0	7356	1783	62	5	193	5	HOXB7	17	46685394	Missense_Mutation	SNP	T	TCGA-CV-5440-01A-01D-1512-08	11749582	46685394	34509816	117	42083											
RNF213	57674	broad.mit.edu	37	chr17	78343325	78343325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccattgaaaagcatgcccGcttccggcagatgtgcaaca	12	7	10	12	2	0	2	0	1	0	1	1	2	1	2	3	1	5	4	3	1	3	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:78343325G>A	ENST00000582970.1	+	45	12322	c.12179G>A	c.(12178-12180)cGc>cAc	p.R4060H	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4109H|RNF213_ENST00000336301.6_Missense_Mutation_p.R2133H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGCATGCCCGCTTCCGGCAG	0.498													4	102					0	0	0	0	A	78343325	G	A	78343325	3	1	231	1	0	0	0	0	1	0	0	0	13562	1087	38	1	12672	1	RNF213	17	78343325	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	31657931	78343325	2851885	118	42084											
LAMA3	3909	broad.mit.edu	37	chr18	21526172	21526172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggactgagggcccgggaggGaagtttgcctggaaactcca	9	7	16	9	1	0	1	0	1	0	0	1	5	1	5	3	5	2	1	3	5	2	1			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr18:21526172G>A	ENST00000313654.9	+	70	9516	c.9275G>A	c.(9274-9276)gGa>gAa	p.G3092E	LAMA3_ENST00000399516.3_Missense_Mutation_p.G3036E|LAMA3_ENST00000269217.6_Missense_Mutation_p.G1483E|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1427E|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3092	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCCGGGAGGGAAGTTTGCCT	0.493													7	44					0	0	0	0	A	21526172	G	A	21526172	3	1	231	1	0	0	0	0	1	0	0	0	8660	1174	41	2	9728	2	LAMA3	18	21526172	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08		21526172	56551076	119	42085											
STAP2	55620	broad.mit.edu	37	chr19	4329963	4329963	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgggacactcacgagggTgtctccagtgcacggcgcgc	7	5	16	13	5	2	0	1	0	1	0	3	2	2	1	1	4	1	1	1	4	0	0			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:4329963T>G	ENST00000600324.1	-	5	517	c.450A>C	c.(448-450)acA>acC	p.T150T	STAP2_ENST00000594605.1_Silent_p.T150T	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	150	SH2.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACGAGGGTGTCTCCAGTG	0.642													7	16					0	0	0	0	G	4329963	T	G	4329963	2	3	231	1	0	0	0	0	0	0	0	1	15343	1683	59	5		5	STAP2	19	4329963	Silent	SNP	T	TCGA-CV-5440-01A-01D-1512-08		4329963	54799020	120	42086											
XAB2	56949	broad.mit.edu	37	chr19	7685323	7685323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccacgtctgccagaacgCgccggtcgtctgcgtggggg	4	8	15	14	6	2	1	0	0	2	1	4	1	3	1	3	3	3	0	3	3	1	1	rs4134865		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:7685323C>T	ENST00000358368.4	-	16	2141	c.2104G>A	c.(2104-2106)Gcg>Acg	p.A702T	XAB2_ENST00000534844.1_Missense_Mutation_p.A699T	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	702			A -> T (in dbSNP:rs4134865).		transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TGCCAGAACGCGCCGGTCGTC	0.657								Direct reversal of damage;Nucleotide excision repair (NER)					10	73					0	0	0	0	T	7685323	C	T	7685323	3	4	231	1	0	0	0	0	1	0	0	0	17514	768	27	1	479	1	XAB2	19	7685323	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	3355360	7685323	51443660	121	42087											
RAB3A	5864	broad.mit.edu	37	chr19	18313497	18313497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttgaacatgtagtcgaaGttctgatccgaggactcctt	10	13	9	9	2	2	2	0	2	2	0	5	5	4	3	2	1	1	2	2	1	3	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:18313497G>C	ENST00000222256.4	-	2	232	c.54C>G	c.(52-54)aaC>aaG	p.N18K	RAB3A_ENST00000464076.2_Intron	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	18					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TGTAGTCGAAGTTCTGATCCG	0.582											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	99					0	0	0	0	C	18313497	G	C	18313497	3	2	231	1	0	0	0	0	1	0	0	0	13013	1020	36	4	624	4	RAB3A	19	18313497	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	10628174	18313497	40815486	122	42088											
CRTC1	23373	broad.mit.edu	37	chr19	18853806	18853806	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcccaacgtgaaccagatCgggagtggcaccatggacct	10	6	12	13	2	0	2	0	1	0	1	1	4	0	4	4	3	3	1	4	3	2	0			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:18853806C>T	ENST00000338797.6	+	2	238	c.213C>T	c.(211-213)atC>atT	p.I71I	CRTC1_ENST00000601916.1_5'UTR|CRTC1_ENST00000594658.1_Silent_p.I30I|CRTC1_ENST00000321949.8_Silent_p.I71I	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	71					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TGAACCAGATCGGGAGTGGCA	0.667													17	25					0	0	0	0	T	18853806	C	T	18853806	2	4	231	1	0	0	0	0	0	0	0	1	3929	874	31	1		1	CRTC1	19	18853806	Silent	SNP	C	TCGA-CV-5440-01A-01D-1512-08	540309	18853806	40275177	123	42089											
ZNF43	7594	broad.mit.edu	37	chr19	21991574	21991574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacatttgtagggtttctctCcagtatgagttaacttatgt	9	17	8	7	0	1	1	0	1	1	0	3	1	2	1	1	1	1	4	1	1	4	6			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:21991574C>G	ENST00000594012.1	-	7	1761	c.1247G>C	c.(1246-1248)gGa>gCa	p.G416A	ZNF43_ENST00000598381.1_Missense_Mutation_p.G416A|ZNF43_ENST00000595461.1_Missense_Mutation_p.G416A|ZNF43_ENST00000354959.4_Missense_Mutation_p.G422A	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGGTTTCTCTCCAGTATGAGT	0.373													7	44					0	0	0	0	G	21991574	C	G	21991574	3	3	231	1	0	0	0	0	1	0	0	0	17998	855	30	2	1168	2	ZNF43	19	21991574	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	3137768	21991574	37137409	124	42090											
ZNF227	7770	broad.mit.edu	37	chr19	44738977	44738977	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaattaaccaggtgtcttCaggggaagagttcccagtta	11	11	12	7	0	2	2	1	1	1	1	3	3	3	3	2	3	1	2	2	3	4	4			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:44738977C>T	ENST00000313040.7	+	6	599	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	ZNF227_ENST00000589707.1_3'UTR|ZNF227_ENST00000586228.1_3'UTR|ZNF227_ENST00000391961.2_Nonsense_Mutation_p.Q81*|ZNF227_ENST00000589005.1_Nonsense_Mutation_p.Q81*	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CAGGTGTCTTCAGGGGAAGAG	0.373													21	46					0	0	0	0	T	44738977	C	T	44738977	4	4	231	1	0	0	0	0	0	1	0	0	17876	827	29	2	408	2	ZNF227	19	44738977	Nonsense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	22747403	44738977	14390006	125	42091											
FBXO46	23403	broad.mit.edu	37	chr19	46215299	46215299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcgcgtgggcaggaagctGaagatcttgaccagcacgtg	9	6	16	10	4	1	3	0	2	1	1	1	4	1	4	1	2	2	3	1	2	2	1			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:46215299G>A	ENST00000317683.3	-	2	1588	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	485	F-box.						protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GCAGGAAGCTGAAGATCTTGA	0.632													6	23					0	0	0	0	A	46215299	G	A	46215299	2	1	231	1	0	0	0	0	0	0	0	1	5800	1281	45	2		2	FBXO46	19	46215299	Silent	SNP	G	TCGA-CV-5440-01A-01D-1512-08	1476322	46215299	12913684	126	42092											
SLC12A5	57468	broad.mit.edu	37	chr20	44673612	44673612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacatcattccaggtttggcGaagctgtgaatggcaacctc	10	10	10	11	1	1	1	1	1	0	0	3	2	2	1	2	3	2	3	2	3	3	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr20:44673612G>A	ENST00000454036.1	+	12	1547	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E468K|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	491					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGGTTTGGCGAAGCTGTGAA	0.567													23	94					0	0	0	0	A	44673612	G	A	44673612	3	1	231	1	0	0	0	0	1	0	0	0	14474	1059	37	1	1573	1	SLC12A5	20	44673612	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08		44673612	18351908	127	42093											
KCNQ2	3785	broad.mit.edu	37	chr20	62065124	62065124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaatggaaaataaaaaatGaaacagttgcttggtggcag	19	8	10	4	0	0	1	0	1	0	0	0	2	0	2	0	3	2	3	0	3	7	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr20:62065124G>T	ENST00000344425.5	-	8	1330	c.1156C>A	c.(1156-1158)Cat>Aat	p.H386N	KCNQ2_ENST00000344462.3_Intron|KCNQ2_ENST00000359689.1_Intron|KCNQ2_ENST00000370221.1_Intron|KCNQ2_ENST00000370222.3_Intron|KCNQ2_ENST00000370224.1_Intron|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000430658.1_Intron|KCNQ2_ENST00000370226.1_Intron|KCNQ2_ENST00000359125.2_Intron|KCNQ2_ENST00000357249.2_Intron|KCNQ2_ENST00000354587.3_Intron|KCNQ2_ENST00000360480.3_Intron	NM_172109.1	NP_742107.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	0					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AATAAAAAATGAAACAGTTGC	0.433													8	55					5.18039e-06	5.42417e-06	1	0	T	62065124	G	T	62065124	3	4	231	1	0	0	0	0	1	0	0	0	8136	1290	45	2	1566	2	KCNQ2	20	62065124	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	17391512	62065124	960396	128	42094											
NRIP1	8204	broad.mit.edu	37	chr21	16338750	16338750	+	Frame_Shift_Del	DEL	A	A	-																															gcagtatttgttagcttttcAgactgagtactgcagacata																										TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:16338750delA	ENST00000400202.1	-	3	2476	c.1764delT	c.(1762-1764)tcfs	p.S588fs	NRIP1_ENST00000318948.4_Frame_Shift_Del_p.S588fs|NRIP1_ENST00000400199.1_Frame_Shift_Del_p.S588fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	588	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTAGCTTTTCAGACTGAGTAC	0.438													101	76	---	---	---	---					-	16338750	A	-	16338750	7	5	231	1	0	1	0	1	0	0	0	0	10723	175	7	0	1716	0	NRIP1	21	16338750	Frame_Shift_Del	DEL	A	TCGA-CV-5440-01A-01D-1512-08		16338750	31791145	129	42095											
HUNK	30811	broad.mit.edu	37	chr21	33331187	33331187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgccatgttgaccgggaCgctgcctttcacggtggagc	6	10	14	11	3	1	1	1	1	0	0	1	3	1	3	3	3	3	3	3	3	1	3			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:33331187C>T	ENST00000270112.2	+	5	1139	c.779C>T	c.(778-780)aCg>aTg	p.T260M		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	260	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTGACCGGGACGCTGCCTTTC	0.542													20	37					0	0	0	0	T	33331187	C	T	33331187	3	4	231	1	0	0	0	0	1	0	0	0	7511	536	19	1	797	1	HUNK	21	33331187	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	16992437	33331187	14798708	130	42096											
COL18A1	80781	broad.mit.edu	37	chr21	46925146	46925146	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccagggccctcccggcccCccaggccccccagggccccc	3	1	11	26	2	0	0	0	0	0	0	1	0	1	0	11	4	0	0	11	4	0	0			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:46925146C>T	ENST00000359759.4	+	34	4233	c.4212C>T	c.(4210-4212)ccC>ccT	p.P1404P	COL18A1_ENST00000355480.5_Silent_p.P1169P|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Silent_p.P989P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1404	Triple-helical region 9 (COL9).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCCCGGCCCCCCAGGCCCCC	0.731													3	6					0	0	0	0	T	46925146	C	T	46925146	2	4	231	1	0	0	0	0	0	0	0	1	3705	610	22	4		4	COL18A1	21	46925146	Silent	SNP	C	TCGA-CV-5440-01A-01D-1512-08	13593959	46925146	1204749	131	42097											
COL6A1	1291	broad.mit.edu	37	chr21	47423706	47423706	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcgccacgcccgctgccatcGagaaggccgtgcaggaagcc	8	3	14	16	5	0	1	0	0	0	1	1	3	0	2	5	2	3	2	5	2	2	0	rs149534094	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:47423706G>C	ENST00000361866.3	+	35	2980	c.2866G>C	c.(2866-2868)Gag>Cag	p.E956Q	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	956	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CGCTGCCATCGAGAAGGCCGT	0.672													8	73					0	0	0	0	C	47423706	G	C	47423706	3	2	231	1	0	0	0	0	1	0	0	0	3729	1059	37	3	3004	3	COL6A1	21	47423706	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08	498560	47423706	706189	132	42098											
WNK3	65267	broad.mit.edu	37	chrX	54228471	54228471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctagtttgtgttgactttGtttaagttggtttaaacttg	7	21	9	4	0	1	1	0	1	1	0	1	1	1	1	0	1	1	5	0	1	4	10			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chrX:54228471G>T	ENST00000354646.2	-	23	5464	c.5026C>A	c.(5026-5028)Caa>Aaa	p.Q1676K	WNK3_ENST00000375159.2_Missense_Mutation_p.Q1676K|WNK3_ENST00000375169.3_Missense_Mutation_p.Q1619K	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1619					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTTGACTTTGTTTAAGTTGG	0.338													6	13					5.18039e-06	5.42417e-06	1	0	T	54228471	G	T	54228471	3	4	231	1	0	0	0	0	1	0	0	0	17475	1386	48	4	384	4	WNK3	23	54228471	Missense_Mutation	SNP	G	TCGA-CV-5440-01A-01D-1512-08		54228471	101042089	133	42099											
MORF4L2	9643	broad.mit.edu	37	chrX	102931249	102931249	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcgtataggccaacattgctCcaattcttacaaataatctc	13	12	5	11	1	2	0	0	0	2	0	4	0	3	0	2	1	3	2	2	1	7	6			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chrX:102931249C>G	ENST00000423833.2	-	3	1932	c.707G>C	c.(706-708)gGa>gCa	p.G236A	MORF4L2_ENST00000441076.2_Missense_Mutation_p.G236A|MORF4L2_ENST00000372620.1_Missense_Mutation_p.G118A|MORF4L2_ENST00000422154.2_Missense_Mutation_p.G236A|MORF4L2_ENST00000360458.1_Missense_Mutation_p.G236A|MORF4L2_ENST00000433176.2_Missense_Mutation_p.G236A|MORF4L2_ENST00000451301.1_Missense_Mutation_p.G236A			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	236					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	p.G236V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CAACATTGCTCCAATTCTTAC	0.443													4	33					0	0	0	0	G	102931249	C	G	102931249	3	3	231	1	0	0	0	0	1	0	0	0	9777	855	30	2	163	2	MORF4L2	23	102931249	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	48702778	102931249	52339311	134	42100											
DOCK11	139818	broad.mit.edu	37	chrX	117773475	117773475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgctcttcgaaacagatCaggagtaatgcaggcccggc	10	7	12	12	2	2	1	1	0	1	1	3	3	2	2	2	3	3	3	2	3	2	2			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chrX:117773475C>T	ENST00000276204.6	+	38	4153	c.4079C>T	c.(4078-4080)tCa>tTa	p.S1360L	DOCK11_ENST00000276202.7_Missense_Mutation_p.S1360L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1360					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CGAAACAGATCAGGAGTAATG	0.428													13	15					0	0	0	0	T	117773475	C	T	117773475	3	4	231	1	0	0	0	0	1	0	0	0	4722	838	29	2	4229	2	DOCK11	23	117773475	Missense_Mutation	SNP	C	TCGA-CV-5440-01A-01D-1512-08	14842226	117773475	37497085	135	42101											
C1orf159	54991	broad.mit.edu	37	chr1	1021283	1021283	+	Frame_Shift_Del	DEL	G	G	-																															tttcttctgtagcaggccctGgggagtttactggagcgctt																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:1021283delG	ENST00000448924.1	-	8	959	c.528delC	c.(526-528)ccfs	p.P176fs	C1orf159_ENST00000379319.1_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000379320.1_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000437760.1_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000421241.2_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Frame_Shift_Del_p.P176fs|C1orf159_ENST00000294576.5_Frame_Shift_Del_p.P140fs			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	176						integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AGCAGGCCCTGGGGAGTTTAC	0.627													12	47	---	---	---	---					-	1021283	G	-	1021283	7	5	232	1	0	1	0	1	0	0	0	0	2027	1335	47	0	192	0	C1orf159	1	1021283	Frame_Shift_Del	DEL	G	TCGA-CV-5441-01A-01D-1512-08		1021283	248229338	1	42102											
SKI	6497	broad.mit.edu	37	chr1	2160689	2160689	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaccagctggagatcctcAaagtcatgggcatcctgccc	9	7	10	15	1	2	1	2	0	0	1	4	3	4	1	5	2	2	2	5	2	1	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:2160689A>T	ENST00000378536.4	+	1	556	c.484A>T	c.(484-486)Aaa>Taa	p.K162*		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	162					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GGAGATCCTCAAAGTCATGGG	0.662													17	5					0	0	0	0	T	2160689	A	T	2160689	4	4	232	1	0	0	0	0	0	1	0	0	14445	131	5	5	486	5	SKI	1	2160689	Nonsense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	1139406	2160689	247089932	2	42103											
CHD5	26038	broad.mit.edu	37	chr1	6188634	6188634	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggactggacatcagggaTgggtgtgaccggcctctggc	7	7	18	9	1	2	1	1	1	1	0	2	5	2	5	2	7	0	0	2	7	0	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:6188634T>A	ENST00000262450.3	-	24	3754	c.3655A>T	c.(3655-3657)Atc>Ttc	p.I1219F	CHD5_ENST00000378021.1_Missense_Mutation_p.I76F	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1219					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACATCAGGGATGGGTGTGACC	0.632													21	47					0	0	0	0	A	6188634	T	A	6188634	3	1	232	1	0	0	0	0	1	0	0	0	3357	1464	51	5	2281	5	CHD5	1	6188634	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	4027945	6188634	243061987	3	42104											
NMNAT1	64802	broad.mit.edu	37	chr1	10035807	10035807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaagtcttcagaaggaGtggaaagagactctgaaggt	14	8	15	4	0	3	3	1	1	2	2	3	7	3	6	0	4	0	0	0	4	4	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:10035807G>T	ENST00000377205.1	+	3	417	c.273G>T	c.(271-273)gaG>gaT	p.E91D	NMNAT1_ENST00000403197.1_Missense_Mutation_p.E91D	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	91					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		TTCAGAAGGAGTGGAAAGAGA	0.413													46	103					2.72333e-11	3.27553e-11	1	0	T	10035807	G	T	10035807	3	4	232	1	0	0	0	0	1	0	0	0	10568	1020	36	4	279	4	NMNAT1	1	10035807	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	3847173	10035807	239214814	4	42105											
CAPZB	832	broad.mit.edu	37	chr1	19712005	19712005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcatgagctcacctatagGagtccccatctctgttgtag	8	11	11	11	0	2	1	1	1	1	0	4	2	3	2	3	2	1	4	3	2	3	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:19712005G>T	ENST00000264203.3	-	4	780	c.287C>A	c.(286-288)tCc>tAc	p.S96Y	CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000401084.2_Missense_Mutation_p.S70Y|CAPZB_ENST00000375144.1_Missense_Mutation_p.S58Y|CAPZB_ENST00000264202.6_Missense_Mutation_p.S70Y|CAPZB_ENST00000375142.1_Missense_Mutation_p.S70Y|CAPZB_ENST00000433834.1_Missense_Mutation_p.S99Y			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	70					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TCACCTATAGGAGTCCCCATC	0.572													17	52					9.16793e-09	1.05877e-08	1	0	T	19712005	G	T	19712005	3	4	232	1	0	0	0	0	1	0	0	0	2668	1174	41	2	637	2	CAPZB	1	19712005	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	9676198	19712005	229538616	5	42106											
HSPG2	3339	broad.mit.edu	37	chr1	22205106	22205106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtgtagcctggggcacagGcgtcacatgtggcttggcca	7	8	15	11	1	1	0	1	0	0	0	1	0	1	0	2	5	1	3	2	5	1	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:22205106G>A	ENST00000374695.3	-	19	2601	c.2522C>T	c.(2521-2523)gCc>gTc	p.A841V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	841	Laminin EGF-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGGGCACAGGCGTCACATGT	0.627													14	21					0	0	0	0	A	22205106	G	A	22205106	3	1	232	1	0	0	0	0	1	0	0	0	7483	1203	42	4	10969	4	HSPG2	1	22205106	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2493101	22205106	227045515	6	42107											
CSMD2	114784	broad.mit.edu	37	chr1	34066567	34066567	+	Frame_Shift_Del	DEL	G	G	-																															tgttttcttggccatgctccGggtgaagacgccgagccgtg																								rs114879806	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:34066567delG	ENST00000373381.4	-	44	6930	c.6754delC	c.(6754-6756)ggfs	p.R2252fs	CSMD2_ENST00000373388.2_Frame_Shift_Del_p.R351fs|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373380.1_Frame_Shift_Del_p.R1125fs|CSMD2_ENST00000373377.1_Frame_Shift_Del_p.R351fs	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2254	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCATGCTCCGGGTGAAGACG	0.572													68	201	---	---	---	---					-	34066567	G	-	34066567	7	5	232	1	0	1	0	1	0	0	0	0	3977	1115	39	0	3803	0	CSMD2	1	34066567	Frame_Shift_Del	DEL	G	TCGA-CV-5441-01A-01D-1512-08	11861461	34066567	215184054	7	42108											
MACF1	23499	broad.mit.edu	37	chr1	39720017	39720017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataggctgcagaatgtgcaGattgccctggacttcctaaa	11	10	10	10	0	0	2	0	0	0	2	1	3	1	3	2	2	3	3	2	2	4	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:39720017G>T	ENST00000564288.1	+	5	1182	c.405G>T	c.(403-405)caG>caT	p.Q135H	MACF1_ENST00000317713.7_Missense_Mutation_p.Q140H|MACF1_ENST00000567887.1_Missense_Mutation_p.Q172H|RP11-420K8.1_ENST00000289890.7_RNA|MACF1_ENST00000539005.1_Missense_Mutation_p.Q140H|MACF1_ENST00000361689.2_Missense_Mutation_p.Q140H|MACF1_ENST00000536367.1_Missense_Mutation_p.Q103H|MACF1_ENST00000372915.3_Missense_Mutation_p.Q140H|MACF1_ENST00000545844.1_Missense_Mutation_p.Q140H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	140	Actin-binding.|CH 1.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAATGTGCAGATTGCCCTGG	0.478													35	80					4.34086e-07	4.92594e-07	1	0	T	39720017	G	T	39720017	3	4	232	1	0	0	0	0	1	0	0	0	9209	933	33	2	434	2	MACF1	1	39720017	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	5653450	39720017	209530604	8	42109											
LEPRE1	64175	broad.mit.edu	37	chr1	43228142	43228142	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacagctttctccaacttgTtgatctaagaatgaagcatg	13	12	7	9	0	2	3	0	2	2	1	3	3	2	3	1	0	4	3	1	0	5	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:43228142T>C	ENST00000236040.4	-	2	510	c.470A>G	c.(469-471)aAc>aGc	p.N157S	LEPRE1_ENST00000397054.3_Missense_Mutation_p.N157S|LEPRE1_ENST00000296388.5_Missense_Mutation_p.N157S	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	157					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTCCAACTTGTTGATCTAAGA	0.458													46	92					0	0	0	0	C	43228142	T	C	43228142	3	2	232	1	0	0	0	0	1	0	0	0	8782	1725	60	5	1815	5	LEPRE1	1	43228142	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	3508125	43228142	206022479	9	42110											
USP24	23358	broad.mit.edu	37	chr1	55599818	55599818	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtatcaagagcagaagcttCcgtactcgtagagttatcct	11	11	10	9	2	1	3	1	0	0	3	4	3	3	3	2	1	3	6	2	1	6	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:55599818C>T	ENST00000294383.6	-	30	3305	c.3306G>A	c.(3304-3306)cgG>cgA	p.R1102R	USP24_ENST00000407756.1_Silent_p.R942R	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1102					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GCAGAAGCTTCCGTACTCGTA	0.333													18	32					0	0	0	0	T	55599818	C	T	55599818	2	4	232	1	0	0	0	0	0	0	0	1	17151	842	30	2		2	USP24	1	55599818	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	12371676	55599818	193650803	10	42111											
C1orf168	199920	broad.mit.edu	37	chr1	57257960	57257960	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggttcctctggagtaagccCcatgcctttttgcccttcca	5	13	9	14	0	1	0	0	0	1	0	3	1	3	1	6	2	3	2	6	2	1	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:57257960C>A	ENST00000343433.6	-	2	606	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	176										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						GGAGTAAGCCCCATGCCTTTT	0.488													66	120					1.17004e-41	1.87927e-41	1	0	A	57257960	C	A	57257960	3	1	232	1	0	0	0	0	1	0	0	0	2031	623	22	4	1736	4	C1orf168	1	57257960	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1658142	57257960	191992661	11	42112											
C8B	732	broad.mit.edu	37	chr1	57420448	57420448	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtttgcttcatctgactgGtctccacagtcattgtcccc	6	14	7	14	0	4	1	2	1	2	0	6	1	5	1	3	1	1	2	3	1	0	3	rs151302643	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:57420448G>C	ENST00000543257.1	-	5	854	c.288C>G	c.(286-288)gaC>gaG	p.D96E	C8B_ENST00000535057.1_Missense_Mutation_p.D86E|C8B_ENST00000371237.4_Missense_Mutation_p.D148E	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	148	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATCTGACTGGTCTCCACAGT	0.448													39	98					0	0	0	0	C	57420448	G	C	57420448	3	2	232	1	0	0	0	0	1	0	0	0	2440	1252	44	4	1367	4	C8B	1	57420448	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	162488	57420448	191830173	12	42113											
DOCK7	85440	broad.mit.edu	37	chr1	62954718	62954718	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactttgtaaacttcattaaCtgcttcatacatgccagcct	11	15	4	11	0	2	0	2	0	0	0	2	0	2	0	2	0	7	2	2	0	5	7			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:62954718C>A	ENST00000251157.5	-	42	5386	c.5353G>T	c.(5353-5355)Gtt>Ttt	p.V1785F	DOCK7_ENST00000340370.5_Missense_Mutation_p.V1763F	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1794	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ACTTCATTAACTGCTTCATAC	0.299													16	47					4.14922e-12	5.07235e-12	1	0	A	62954718	C	A	62954718	3	1	232	1	0	0	0	0	1	0	0	0	4728	565	20	4	1078	4	DOCK7	1	62954718	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	5534270	62954718	186295903	13	42114											
SGIP1	84251	broad.mit.edu	37	chr1	67099824	67099824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcttgcttctggctcagagCcctctcgttaactctgtctc	4	15	7	15	1	6	1	1	0	5	1	8	1	6	1	1	1	3	3	1	1	1	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:67099824C>A	ENST00000237247.6	+	5	299	c.161C>A	c.(160-162)gCc>gAc	p.A54D	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371037.4_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000468286.1_Intron			Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	51					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TGGCTCAGAGCCCTCTCGTTA	0.507													5	20					0.000602214	0.000631237	1	0	A	67099824	C	A	67099824	3	1	232	1	0	0	0	0	1	0	0	0	14293	754	26	4		4	SGIP1	1	67099824	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	4145106	67099824	182150797	14	42115											
TNNI3K	51086	broad.mit.edu	37	chr1	75005943	75005943	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaatattcctctcaaggtCtgtctttggaggagatgaaa	12	12	10	7	0	3	2	1	1	3	1	5	5	4	3	1	3	0	0	1	3	4	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:75005943C>A	ENST00000370891.2	+	26	2696	c.2680C>A	c.(2680-2682)Ctg>Atg	p.L894M	TNNI3K_ENST00000326637.3_Missense_Mutation_p.L793M|TNNI3K_ENST00000465473.1_3'UTR|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.L894M	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase									p.L793M(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						CTCTCAAGGTCTGTCTTTGGA	0.348													22	61					5.35356e-11	6.38027e-11	1	0	A	75005943	C	A	75005943	3	1	232	1	0	0	0	0	1	0	0	0	16423	912	32	2	2826	2	TNNI3K	1	75005943	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	7906119	75005943	174244678	15	42116											
FUBP1	8880	broad.mit.edu	37	chr1	78429830	78429830	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttatttgtgctatcctttCgggtgttgtcccatcatctt	4	20	8	9	1	2	0	1	0	1	0	5	0	4	0	2	1	1	3	2	1	2	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:78429830C>A	ENST00000370767.1	-	12	1045	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E320*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E341*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	320	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTATCCTTTCGGGTGTTGTC	0.348			"F, N"		oligodendroglioma								70	161					8.65233e-54	1.43381e-53	1	0	A	78429830	C	A	78429830	4	1	232	1	0	0	0	0	0	1	0	0	6140	893	31	3	1012	3	FUBP1	1	78429830	Nonsense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	3423887	78429830	170820791	16	42117											
COL24A1	255631	broad.mit.edu	37	chr1	86591713	86591713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattgtaaacggctgcccCaagttgactggtaaaatttt	13	13	8	7	1	0	1	0	1	0	0	0	1	0	1	2	2	2	4	2	2	7	7			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:86591713C>A	ENST00000370571.2	-	3	672	c.306G>T	c.(304-306)ttG>ttT	p.L102F	COL24A1_ENST00000436319.1_Missense_Mutation_p.L102F	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	102	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACGGCTGCCCCAAGTTGACTG	0.388													39	76					2.2871e-25	3.363e-25	1	0	A	86591713	C	A	86591713	3	1	232	1	0	0	0	0	1	0	0	0	3713	593	21	4	5070	4	COL24A1	1	86591713	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	8161883	86591713	162658908	17	42118											
GBP5	115362	broad.mit.edu	37	chr1	89726431	89726431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttattaacagtcctctgggCgtgctggagctcactgagaa	9	11	12	9	1	2	1	1	1	1	1	3	3	3	2	1	2	3	3	1	2	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:89726431C>A	ENST00000343435.5	-	12	2253	c.1717G>T	c.(1717-1719)Gcc>Tcc	p.A573S	GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.A573S	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	573						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTCCTCTGGGCGTGCTGGAGC	0.403													53	165					4.32865e-36	6.82645e-36	1	0	A	89726431	C	A	89726431	3	1	232	1	0	0	0	0	1	0	0	0	6326	768	27	3	47	3	GBP5	1	89726431	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	3134718	89726431	159524190	18	42119											
COL11A1	1301	broad.mit.edu	37	chr1	103343706	103343706	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttcaatgacagtcttttCatagccttttctggactgta	9	17	7	8	0	4	1	2	1	2	0	4	3	4	2	1	1	1	1	1	1	3	7			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:103343706C>A	ENST00000358392.2	-	67	5643	c.5326G>T	c.(5326-5328)Gaa>Taa	p.E1776*	COL11A1_ENST00000353414.4_Nonsense_Mutation_p.E1725*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.E1764*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.E1648*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1764	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACAGTCTTTTCATAGCCTTTT	0.303													12	57					3.07112e-06	3.42548e-06	1	0	A	103343706	C	A	103343706	4	1	232	1	0	0	0	0	0	1	0	0	3697	835	29	2	134	2	COL11A1	1	103343706	Nonsense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	13617275	103343706	145906915	19	42120											
WDR3	10885	broad.mit.edu	37	chr1	118481110	118481110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttcttttagtgggaaaGataccatggtgaaatggtgg	10	15	12	4	0	2	2	0	1	2	1	2	3	2	3	1	4	1	0	1	4	4	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:118481110G>A	ENST00000349139.4	+	5	555	c.508G>A	c.(508-510)Gat>Aat	p.D170N	WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	170						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TAGTGGGAAAGATACCATGGT	0.423													27	67					0	0	0	0	A	118481110	G	A	118481110	3	1	232	1	0	0	0	0	1	0	0	0	17381	942	33	2	522	2	WDR3	1	118481110	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	15137404	118481110	130769511	20	42121											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879382	144879382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcagatctttgatgtcCtttcgtaggaccaagatgtt	8	15	9	9	1	2	3	1	1	1	2	4	4	3	4	3	1	0	2	3	1	2	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:144879382C>A	ENST00000369359.4	-	30	4514	c.4476G>T	c.(4474-4476)aaG>aaT	p.K1492N	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1356N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K1356N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1492N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K1312N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1356					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTTGATGTCCTTTCGTAGGA	0.493			T	PDGFRB	MPD								74	398					8.07507e-42	1.30098e-41	1	0	A	144879382	C	A	144879382	3	1	232	1	0	0	0	0	1	0	0	0	11714	680	24	4	3044	4	PDE4DIP	1	144879382	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	26398272	144879382	104371239	21	42122											
TDRD10	126668	broad.mit.edu	37	chr1	154516995	154516995	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacacgcctggaacaggTgtgtgcctgggcaggggtag	8	7	18	8	1	0	0	0	0	0	0	0	2	0	2	2	6	2	2	2	6	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:154516995T>A	ENST00000368482.4	+	10	1635		c.e10+2		TDRD10_ENST00000479937.1_Splice_Site|TDRD10_ENST00000368480.3_Splice_Site	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10								nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGAACAGGTGTGTGCCTGG	0.587													5	14					0	0	0	0	A	154516995	T	A	154516995	5	1	232	1	0	0	0	0	0	0	1	0	15825	1710	59	5	833	5	TDRD10	1	154516995	Splice_Site	SNP	T	TCGA-CV-5441-01A-01D-1512-08	9637613	154516995	94733626	22	42123											
PYGO2	90780	broad.mit.edu	37	chr1	154931794	154931794	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcccctgaccaggtctctGgagaggagaagggccaaaag	12	4	15	10	0	1	3	0	1	1	2	2	6	1	3	4	4	1	0	4	4	3	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:154931794G>A	ENST00000368457.2	-	3	853	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	PYGO2_ENST00000368456.1_Nonsense_Mutation_p.Q191*	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	228	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCAGGTCTCTGGAGAGGAGAA	0.637													7	39					0	0	0	0	A	154931794	G	A	154931794	4	1	232	1	0	0	0	0	0	1	0	0	12946	1357	47	4	542	4	PYGO2	1	154931794	Nonsense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	414799	154931794	94318827	23	42124											
ASH1L	55870	broad.mit.edu	37	chr1	155340374	155340374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgcggtaactgtcaatcaCcatcccactatccaggttca	11	10	6	14	1	3	0	3	0	0	0	5	0	5	0	3	2	2	2	3	2	3	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:155340374C>A	ENST00000368346.3	-	12	7261	c.6622G>T	c.(6622-6624)Gtg>Ttg	p.V2208L	ASH1L_ENST00000392403.3_Missense_Mutation_p.V2203L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2208	SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTGTCAATCACCATCCCACTA	0.418													66	100					6.75472e-32	1.03098e-31	1	0	A	155340374	C	A	155340374	3	1	232	1	0	0	0	0	1	0	0	0	1045	507	18	4	2355	4	ASH1L	1	155340374	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	408580	155340374	93910247	24	42125											
YY1AP1	55249	broad.mit.edu	37	chr1	155629663	155629663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcgactggtggaggccCtgggctatgttccactttgg	5	14	13	9	1	0	0	0	0	0	0	2	2	1	1	2	5	0	2	2	5	2	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:155629663C>A	ENST00000368340.5	-	10	2500	c.2392G>T	c.(2392-2394)Ggg>Tgg	p.G798W	YY1AP1_ENST00000407221.1_Missense_Mutation_p.G649W|YY1AP1_ENST00000404643.1_Missense_Mutation_p.G660W|YY1AP1_ENST00000311573.5_Missense_Mutation_p.G649W|YY1AP1_ENST00000361831.5_Missense_Mutation_p.G669W|YY1AP1_ENST00000359205.5_Missense_Mutation_p.G669W|YY1AP1_ENST00000355499.4_Missense_Mutation_p.G680W|YY1AP1_ENST00000347088.5_Missense_Mutation_p.G680W|YY1AP1_ENST00000368330.2_Missense_Mutation_p.G680W|YY1AP1_ENST00000535662.1_Missense_Mutation_p.G526W|YY1AP1_ENST00000368339.5_Missense_Mutation_p.G818W|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000295566.4_Missense_Mutation_p.G726W	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGTGGAGGCCCTGGGCTATGT	0.512													19	83					1.50039e-11	1.82992e-11	1	0	A	155629663	C	A	155629663	3	1	232	1	0	0	0	0	1	0	0	0	17604	681	24	4	218	4	YY1AP1	1	155629663	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	289289	155629663	93620958	25	42126											
NES	10763	broad.mit.edu	37	chr1	156639196	156639196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccctggcccaggtgaacaGgagcccctgcccaagaggtc	9	4	13	15	0	0	2	0	1	0	1	1	4	0	3	5	4	3	0	5	4	2	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:156639196G>A	ENST00000368223.3	-	4	4916	c.4784C>T	c.(4783-4785)cCt>cTt	p.P1595L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1595	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGTGAACAGGAGCCCCTGC	0.597													38	79					0	0	0	0	A	156639196	G	A	156639196	3	1	232	1	0	0	0	0	1	0	0	0	10407	1000	35	4	85	4	NES	1	156639196	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1009533	156639196	92611425	26	42127											
FCRL3	115352	broad.mit.edu	37	chr1	157659649	157659649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagcaaggacgaggatGctgagcaccagccccgtgat	11	4	14	12	2	0	2	0	2	0	0	0	5	0	4	3	2	5	5	3	2	1	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:157659649G>T	ENST00000368184.3	-	10	2040	c.1749C>A	c.(1747-1749)agC>agA	p.S583R	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.S583R	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	583						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)					GGACGAGGATGCTGAGCACCA	0.572													13	45					0.0135373	0.0139104	1	0	T	157659649	G	T	157659649	3	4	232	1	0	0	0	0	1	0	0	0	5841	1310	46	4	479	4	FCRL3	1	157659649	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1020453	157659649	91590972	27	42128											
ASTN1	460	broad.mit.edu	37	chr1	176853475	176853475	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagtagaaggtgctcacCtgtctccactttggagtggt	9	12	12	8	0	2	2	1	1	1	1	3	3	2	3	2	3	1	2	2	3	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:176853475C>A	ENST00000367654.2	-	19	3263	c.3250_splice	c.e19+1	p.E1084_splice	ASTN1_ENST00000361833.2_Splice_Site_p.E1076_splice|ASTN1_ENST00000424564.2_Splice_Site_p.E1076_splice|ASTN1_ENST00000367657.3_Splice_Site_p.E1076_splice			O14525	ASTN1_HUMAN	astrotactin 1	1084	Fibronectin type-III 1.				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						AGGTGCTCACCTGTCTCCACT	0.493													43	90					7.70917e-36	1.2121e-35	1	0	A	176853475	C	A	176853475	5	1	232	1	0	0	0	0	0	0	1	0	1068	695	24	4	682	4	ASTN1	1	176853475	Splice_Site	SNP	C	TCGA-CV-5441-01A-01D-1512-08	19193826	176853475	72397146	28	42129											
ASTN1	460	broad.mit.edu	37	chr1	176853589	176853589	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcccactccaggaccacaaGagtgctgctgggctcgtgaa	9	8	11	13	1	0	2	0	1	0	1	3	3	2	3	3	2	2	3	3	2	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:176853589G>C	ENST00000367654.2	-	19	3149	c.3136C>G	c.(3136-3138)Ctt>Gtt	p.L1046V	ASTN1_ENST00000361833.2_Missense_Mutation_p.L1038V|ASTN1_ENST00000424564.2_Missense_Mutation_p.L1038V|ASTN1_ENST00000367657.3_Missense_Mutation_p.L1038V			O14525	ASTN1_HUMAN	astrotactin 1	1046	Fibronectin type-III 1.				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						AGGACCACAAGAGTGCTGCTG	0.542													36	64					0	0	0	0	C	176853589	G	C	176853589	3	2	232	1	0	0	0	0	1	0	0	0	1068	942	33	2	796	2	ASTN1	1	176853589	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	114	176853589	72397032	29	42130											
LHX4	89884	broad.mit.edu	37	chr1	180240538	180240538	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcagaggctggagctaagCggccccggaccaccatcaca	11	4	11	15	2	2	1	2	0	0	1	2	3	2	3	4	4	2	2	4	4	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:180240538C>G	ENST00000263726.2	+	4	719	c.475C>G	c.(475-477)Cgg>Ggg	p.R159G	RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	159						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TGGAGCTAAGCGGCCCCGGAC	0.587													15	97					0	0	0	0	G	180240538	C	G	180240538	3	3	232	1	0	0	0	0	1	0	0	0	8827	759	27	3	489	3	LHX4	1	180240538	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	3386949	180240538	69010083	30	42131											
HMCN1	83872	broad.mit.edu	37	chr1	185833728	185833728	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attaccggctcacccatgagGtgctgcaacttatccaacag	11	9	8	13	1	1	1	1	1	0	0	2	1	2	1	3	2	5	3	3	2	4	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:185833728G>C	ENST00000271588.4	+	3	695	c.466G>C	c.(466-468)Gtg>Ctg	p.V156L	HMCN1_ENST00000367492.2_Missense_Mutation_p.V156L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	156	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACCCATGAGGTGCTGCAACT	0.418													13	27					0	0	0	0	C	185833728	G	C	185833728	3	2	232	1	0	0	0	0	1	0	0	0	7270	1261	44	4	476	4	HMCN1	1	185833728	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	5593190	185833728	63416893	31	42132											
HMCN1	83872	broad.mit.edu	37	chr1	185878573	185878574	+	Frame_Shift_Ins	INS	-	-	A																															ggagaattccttttgatcccINSagcctgaaagaggtcactgt																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:185878573_185878574insA	ENST00000271588.4	+	5	955_956	c.726_727insA	c.(724-729)ccgcctfs	p.P243fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.P243fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	243					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTTTGATCCCAGCCTGAAAGA	0.391													19	74	---	---	---	---					A	185878574	-	A	185878573	7	5	232	1	0	1	1	0	0	0	0	0	7270	581	21	0	744	0	HMCN1	1	185878573	Frame_Shift_Ins	INS	-	TCGA-CV-5441-01A-01D-1512-08	44845	185878573	63372048	32	42133											
REN	5972	broad.mit.edu	37	chr1	204131245	204131245	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggccatgtccacacctcGttccttcaggctttctcgga	5	12	8	16	2	2	0	1	0	1	0	6	1	4	1	5	3	0	2	5	3	0	3	rs121917741		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:204131245G>T	ENST00000367195.2	-	2	188	c.145C>A	c.(145-147)Cga>Aga	p.R49R	REN_ENST00000272190.8_Silent_p.R49R			P00797	RENI_HUMAN	renin	49					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TCCACACCTCGTTCCTTCAGG	0.542											OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	31					0.000673444	0.000704485	1	0	T	204131245	G	T	204131245	2	4	232	1	0	0	0	0	0	0	0	1	13306	1153	40	3		3	REN	1	204131245	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	18252672	204131245	45119376	33	42134											
ELK4	2005	broad.mit.edu	37	chr1	205585757	205585757	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaatggcccatgactgtTcagtacagaaggaaactgag	14	8	12	7	0	1	4	1	3	0	1	1	5	1	5	1	2	2	2	1	2	4	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:205585757T>C	ENST00000357992.4	-	5	1552	c.1213A>G	c.(1213-1215)Aac>Gac	p.N405D		NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CCATGACTGTTCAGTACAGAA	0.438			T	SLC45A3	prostate								22	85					0	0	0	0	C	205585757	T	C	205585757	3	2	232	1	0	0	0	0	1	0	0	0	5099	1783	62	5	86	5	ELK4	1	205585757	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	1454512	205585757	43664864	34	42135											
C1orf116	79098	broad.mit.edu	37	chr1	207196627	207196627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctggcgcaagcctccccGgttctccagggttgtgactg	4	10	13	14	2	2	1	0	1	2	0	4	1	3	1	4	3	1	4	4	3	1	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:207196627G>A	ENST00000359470.5	-	4	731	c.482C>T	c.(481-483)cCg>cTg	p.P161L	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	161						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AAGCCTCCCCGGTTCTCCAGG	0.602													40	81					0	0	0	0	A	207196627	G	A	207196627	3	1	232	1	0	0	0	0	1	0	0	0	2008	1116	39	1	1327	1	C1orf116	1	207196627	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1610870	207196627	42053994	35	42136											
PTPN14	5784	broad.mit.edu	37	chr1	214542973	214542973	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttgaacttgccataggtgGctgagctgtgctttgaacct	7	13	11	10	0	0	3	0	3	0	0	0	3	0	3	3	2	5	3	3	2	3	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:214542973G>C	ENST00000366956.5	-	17	3292	c.3098C>G	c.(3097-3099)gCc>gGc	p.A1033G	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1033	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCCATAGGTGGCTGAGCTGTG	0.468													61	240					0	0	0	0	C	214542973	G	C	214542973	3	2	232	1	0	0	0	0	1	0	0	0	12863	1203	42	4	477	4	PTPN14	1	214542973	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	7346346	214542973	34707648	36	42137											
PTPN14	5784	broad.mit.edu	37	chr1	214557726	214557726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtaggggtgcctctccCgcatctccggttggctgtac	4	11	13	13	2	2	0	0	0	2	0	4	0	2	0	3	4	2	5	3	4	2	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:214557726C>T	ENST00000366956.5	-	13	1666	c.1472G>A	c.(1471-1473)cGg>cAg	p.R491Q	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	491					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.R491L(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GTGCCTCTCCCGCATCTCCGG	0.522													54	193					0	0	0	0	T	214557726	C	T	214557726	3	4	232	1	0	0	0	0	1	0	0	0	12863	652	23	1	2119	1	PTPN14	1	214557726	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	14753	214557726	34692895	37	42138											
USH2A	7399	broad.mit.edu	37	chr1	216258096	216258096	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgggacatccctcccagctgTtatacacgttgatttgttct	7	14	8	12	2	1	1	0	1	1	0	3	2	3	2	2	1	2	4	2	1	2	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:216258096T>G	ENST00000366943.2	-	25	5497	c.5111A>C	c.(5110-5112)aAc>aCc	p.N1704T	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.N1704T|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1704	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCCAGCTGTTATACACGTT	0.418										HNSCC(13;0.011)			25	134					0	0	0	0	G	216258096	T	G	216258096	3	3	232	1	0	0	0	0	1	0	0	0	17132	1725	60	5	10689	5	USH2A	1	216258096	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	1700370	216258096	32992525	38	42139											
SLC35F3	148641	broad.mit.edu	37	chr1	234452395	234452395	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcattgtgatgatgacctaCgctgatggcttccacagcca	9	10	11	11	1	0	4	0	4	0	0	1	4	1	4	3	2	2	3	3	2	1	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:234452395C>T	ENST00000366618.3	+	5	1021	c.876C>T	c.(874-876)taC>taT	p.Y292Y	SLC35F3_ENST00000366617.3_Silent_p.Y223Y	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	223					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGATGACCTACGCTGATGGCT	0.587													45	86					0	0	0	0	T	234452395	C	T	234452395	2	4	232	1	0	0	0	0	0	0	0	1	14678	547	19	1		1	SLC35F3	1	234452395	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	18194299	234452395	14798226	39	42140											
RBM34	23029	broad.mit.edu	37	chr1	235295239	235295239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttctttattaacagaaCgcatgactctgagttttctc	10	18	5	8	1	3	3	0	2	3	1	4	3	3	3	0	0	2	2	0	0	3	7			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:235295239C>T	ENST00000408888.3	-	11	1312	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H	RBM34_ENST00000366606.3_Missense_Mutation_p.R356H|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	361	RRM 2.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			ATTAACAGAACGCATGACTCT	0.313													15	82					0	0	0	0	T	235295239	C	T	235295239	3	4	232	1	0	0	0	0	1	0	0	0	13213	536	19	1	214	1	RBM34	1	235295239	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	842844	235295239	13955382	40	42141											
ACTN2	88	broad.mit.edu	37	chr1	236882193	236882193	+	Splice_Site	DEL	G	G	-																															gattctcttttcatccaacaGgggaaaggctgcccaaacct																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:236882193delG	ENST00000366578.4	+	3	407		c.e3-1		ACTN2_ENST00000542672.1_Splice_Site|ACTN2_ENST00000492634.1_Splice_Site	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2						focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCATCCAACAGGGGAAAGGCT	0.433													20	71	---	---	---	---					-	236882193	G	-	236882193	8	5	232	1	0	1	0	1	0	0	1	0	205	1014	35	0	251	0	ACTN2	1	236882193	Splice_Site	DEL	G	TCGA-CV-5441-01A-01D-1512-08	1586954	236882193	12368428	41	42142											
RYR2	6262	broad.mit.edu	37	chr1	237969512	237969512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actttttttttgccgctcacCttctcgacattgctatggga	6	17	7	11	2	2	0	1	0	1	0	3	2	2	1	2	1	2	2	2	1	1	7			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:237969512C>A	ENST00000366574.2	+	99	14544	c.14227C>A	c.(14227-14229)Ctt>Att	p.L4743I	RYR2_ENST00000542537.1_Missense_Mutation_p.L4727I|RYR2_ENST00000360064.6_Missense_Mutation_p.L4749I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4743					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCCGCTCACCTTCTCGACAT	0.413													16	55					2.32078e-09	2.69811e-09	1	0	A	237969512	C	A	237969512	3	1	232	1	0	0	0	0	1	0	0	0	13854	681	24	4	14621	4	RYR2	1	237969512	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1087319	237969512	11281109	42	42143											
TRIM58	25893	broad.mit.edu	37	chr1	248039216	248039216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgcagtggatgtaaagctgGatcccgccacggcgcacccg	8	5	13	15	5	0	0	0	0	0	0	1	2	1	2	4	3	1	4	4	3	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248039216G>T	ENST00000366481.3	+	6	934	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	296	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTAAAGCTGGATCCCGCCAC	0.542													9	61					1.12685e-05	1.23575e-05	1	0	T	248039216	G	T	248039216	3	4	232	1	0	0	0	0	1	0	0	0	16626	1174	41	2	908	2	TRIM58	1	248039216	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	10069704	248039216	1211405	43	42144											
OR2L2	26246	broad.mit.edu	37	chr1	248202460	248202460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaaacaaggaggtgatGggggccctgacacaagtgat	13	6	15	7	0	0	4	0	4	0	1	0	6	0	5	1	4	1	0	1	4	3	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248202460G>A	ENST00000366479.2	+	1	987	c.891G>A	c.(889-891)atG>atA	p.M297I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGGAGGTGATGGGGGCCCTGA	0.453													17	94					0	0	0	0	A	248202460	G	A	248202460	3	1	232	1	0	0	0	0	1	0	0	0	11078	1348	47	4	893	4	OR2L2	1	248202460	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	163244	248202460	1048161	44	42145											
OR2L13	284521	broad.mit.edu	37	chr1	248262808	248262808	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtgggtaactcggccaTgattcacctcatccacgtgg	7	10	11	13	3	2	1	2	1	0	0	5	1	3	1	3	4	1	1	3	4	1	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248262808T>C	ENST00000366478.2	+	3	468	c.131T>C	c.(130-132)aTg>aCg	p.M44T	OR2L13_ENST00000358120.2_Missense_Mutation_p.M44T	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AACTCGGCCATGATTCACCTC	0.488													38	146					0	0	0	0	C	248262808	T	C	248262808	3	2	232	1	0	0	0	0	1	0	0	0	11077	1464	51	5	133	5	OR2L13	1	248262808	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	60348	248262808	987813	45	42146											
OR2M4	26245	broad.mit.edu	37	chr1	248402915	248402915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcgagccgtcatccacatgGgctctggggaaagtcgtcgc	7	9	13	12	4	2	0	1	0	1	0	6	2	3	1	2	3	1	1	2	3	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248402915G>A	ENST00000306687.1	+	1	685	c.685G>A	c.(685-687)Ggc>Agc	p.G229S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATCCACATGGGCTCTGGGGA	0.483													24	33					0	0	0	0	A	248402915	G	A	248402915	3	1	232	1	0	0	0	0	1	0	0	0	11083	1232	43	4	687	4	OR2M4	1	248402915	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	140107	248402915	847706	46	42147											
OR2G6	391211	broad.mit.edu	37	chr1	248685532	248685532	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtggatacgactttcaaCgaggcagaactctttgtggc	9	12	12	8	2	2	1	1	0	1	1	2	4	2	2	0	3	3	1	0	3	3	3	rs77917888	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248685532C>A	ENST00000343414.4	+	1	617	c.585C>A	c.(583-585)aaC>aaA	p.N195K		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGACTTTCAACGAGGCAGAAC	0.473													20	54					1.5548e-18	2.08639e-18	1	0	A	248685532	C	A	248685532	3	1	232	1	0	0	0	0	1	0	0	0	11071	535	19	3	587	3	OR2G6	1	248685532	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	282617	248685532	565089	47	42148											
OR2T11	127077	broad.mit.edu	37	chr1	248790373	248790373	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatacaatcccggcagcCtcactgttcaccagaagccc	12	7	7	15	1	2	1	2	0	0	1	3	1	3	1	4	1	3	3	4	1	5	3	rs148036216	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248790373C>A	ENST00000330803.2	-	1	118	c.57G>T	c.(55-57)gaG>gaT	p.E19D		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCCGGCAGCCTCACTGTTCA	0.527													21	18					2.39187e-15	3.04526e-15	1	0	A	248790373	C	A	248790373	3	1	232	1	0	0	0	0	1	0	0	0	11089	680	24	4	897	4	OR2T11	1	248790373	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	104841	248790373	460248	48	42149											
KIDINS220	57498	broad.mit.edu	37	chr2	8871438	8871438	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatcctttttgtcaaggagCgcatccgataaatactcttt	11	14	7	9	2	2	0	1	0	1	0	4	3	4	1	2	1	2	1	2	1	5	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:8871438C>G	ENST00000256707.3	-	30	4909	c.4728G>C	c.(4726-4728)gcG>gcC	p.A1576A	KIDINS220_ENST00000418530.1_Silent_p.A1477A|KIDINS220_ENST00000473731.1_Silent_p.A1557A|KIDINS220_ENST00000427284.1_Silent_p.A1557A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1576					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGTCAAGGAGCGCATCCGATA	0.478													40	89					0	0	0	0	G	8871438	C	G	8871438	2	3	232	1	0	0	0	0	0	0	0	1	8322	755	27	3		3	KIDINS220	2	8871438	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08		8871438	234327935	49	42150											
GREB1	9687	broad.mit.edu	37	chr2	11727549	11727549	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatggtagcccttggtccgGcagaacctgcatcgccccgg	8	7	12	14	3	0	1	0	0	0	1	2	1	1	1	5	4	3	3	5	4	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:11727549G>C	ENST00000263834.5	+	10	1628	c.1201G>C	c.(1201-1203)Gca>Cca	p.A401P	GREB1_ENST00000234142.5_Intron|GREB1_ENST00000381486.2_Intron|GREB1_ENST00000381483.2_Intron	NM_148903.2	NP_683701.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	0						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ccttggtccggcagaacctgc	0.512													24	76					0	0	0	0	C	11727549	G	C	11727549	3	2	232	1	0	0	0	0	1	0	0	0	6810	1203	42	4	1235	4	GREB1	2	11727549	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2856111	11727549	231471824	50	42151											
APOB	338	broad.mit.edu	37	chr2	21230877	21230877	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggacagtccaaaggaagTgaggggtccttctatggtga	11	10	14	6	0	1	2	0	2	1	0	3	4	3	4	2	5	0	0	2	5	3	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:21230877T>C	ENST00000233242.1	-	26	8990	c.8863A>G	c.(8863-8865)Act>Gct	p.T2955A		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2955					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAAAGGAAGTGAGGGGTCCT	0.413													79	178					0	0	0	0	C	21230877	T	C	21230877	3	2	232	1	0	0	0	0	1	0	0	0	787	1696	59	5	4844	5	APOB	2	21230877	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	9503328	21230877	221968496	51	42152											
ATAD2B	54454	broad.mit.edu	37	chr2	23977593	23977593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccagttccaggcttgtcGtttttgcctgctctaaaatt	8	15	8	10	1	1	0	0	0	1	0	3	1	2	0	3	1	3	4	3	1	3	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:23977593G>A	ENST00000238789.5	-	26	4473	c.4130C>T	c.(4129-4131)aCg>aTg	p.T1377M	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1377							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCTTGTCGTTTTTGCCTG	0.383													32	57					0	0	0	0	A	23977593	G	A	23977593	3	1	232	1	0	0	0	0	1	0	0	0	1076	1145	40	1	258	1	ATAD2B	2	23977593	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2746716	23977593	219221780	52	42153											
ALK	238	broad.mit.edu	37	chr2	29519791	29519791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggcaacaccatccactGccacaggctcaagccttcat	12	6	8	15	0	2	1	2	0	0	1	3	2	3	1	4	2	3	2	4	2	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:29519791G>T	ENST00000389048.3	-	9	2686	c.1780C>A	c.(1780-1782)Cag>Aag	p.Q594K	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	594	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ACCATCCACTGCCACAGGCTC	0.522			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				16	29					0.0558828	0.0570858	1	0	T	29519791	G	T	29519791	3	4	232	1	0	0	0	0	1	0	0	0	525	1328	46	4	3166	4	ALK	2	29519791	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	5542198	29519791	213679582	53	42154											
EHD3	30845	broad.mit.edu	37	chr2	31489393	31489393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgcgctccaagctgccCaacagtgtgctgggcaagat	9	8	13	11	1	0	1	0	0	0	1	1	1	1	1	2	2	5	4	2	2	3	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:31489393C>T	ENST00000322054.5	+	6	1716	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	477	EF-hand.|EH.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCAAGCTGCCCAACAGTGTGC	0.552													30	67					0	0	0	0	T	31489393	C	T	31489393	2	4	232	1	0	0	0	0	0	0	0	1	5015	581	21	4		4	EHD3	2	31489393	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1969602	31489393	211709980	54	42155											
SRD5A2	6716	broad.mit.edu	37	chr2	31805986	31805986	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatcgcgccgtgttcctcgCcggtggccgctgccctccca	2	8	12	19	6	0	0	0	0	0	0	4	0	2	0	6	2	1	3	6	2	0	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:31805986C>A	ENST00000405650.1	-	0	150							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GTGTTCCTCGCCGGTGGCCGC	0.711													12	14					0.000151284	0.000161825	1	0	A	31805986	C	A	31805986	1	1	232	0	1	0	0	0	0	0	0	0	15229	754	26	4		4	SRD5A2	2	31805986	RNA	SNP	C	TCGA-CV-5441-01A-01D-1512-08	316593	31805986	211393387	55	42156											
FBXO11	80204	broad.mit.edu	37	chr2	48059803	48059804	+	Frame_Shift_Ins	INS	-	-	T																															gctccttgaccactaacacaINStactgcagaaccaactgtag																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:48059803_48059804insT	ENST00000403359.3	-	10	1239_1240	c.1167_1168insA	c.(1165-1170)gtgtgtfs	p.C390fs	FBXO11_ENST00000402508.1_Frame_Shift_Ins_p.C306fs|FBXO11_ENST00000316377.4_Frame_Shift_Ins_p.C306fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	390					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCACTAACACATACTGCAGAAC	0.332			"Mis, F, D"		DLBCL								41	78	---	---	---	---					T	48059804	-	T	48059803	7	5	232	1	0	1	1	0	0	0	0	0	5772	217	8	0	1761	0	FBXO11	2	48059803	Frame_Shift_Ins	INS	-	TCGA-CV-5441-01A-01D-1512-08	16253817	48059803	195139570	56	42157											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48874048	48874048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagtccctctccacaaGccctcatggggctctccacc	7	9	8	17	0	3	2	1	2	2	0	6	2	4	2	5	2	1	1	5	2	1	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:48874048G>A	ENST00000394754.1	+	8	3071	c.2957G>A	c.(2956-2958)aGc>aAc	p.S986N	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S986N|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S248N|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.S282N|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S986N|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S986N|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S939N	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		939					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTCCACAAGCCCTCATGGG	0.428													23	59					0	0	0	0	A	48874048	G	A	48874048	3	1	232	1	0	0	0	0	1	0	0	0	15407	971	34	4	2983	4	STON1-GTF2A1L	2	48874048	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	814245	48874048	194325325	57	42158											
FSHR	2492	broad.mit.edu	37	chr2	49381449	49381449	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaggaatctctgtcacCttgctctcttggcagagaaa	11	11	9	10	0	4	2	2	0	2	2	6	4	4	3	1	2	1	2	1	2	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:49381449C>G	ENST00000406846.2	-	1	227	c.108G>C	c.(106-108)aaG>aaC	p.K36N	FSHR_ENST00000304421.4_Missense_Mutation_p.K36N|FSHR_ENST00000346173.3_Missense_Mutation_p.K36N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	36	LRRNT.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCTCTGTCACCTTGCTCTCTT	0.517									Gonadal Dysgenesis, 46 XX				26	62					0	0	0	0	G	49381449	C	G	49381449	3	3	232	1	0	0	0	0	1	0	0	0	6121	680	24	4	2019	4	FSHR	2	49381449	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	507401	49381449	193817924	58	42159											
INO80B	83444	broad.mit.edu	37	chr2	74684871	74684871	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccggctgtccccatccGcgccgctacgcttgctcccg	2	8	10	21	6	0	0	0	0	0	0	4	0	4	0	7	1	2	4	7	1	1	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:74684871G>C	ENST00000233331.7	+	5	1045	c.951G>C	c.(949-951)ccG>ccC	p.P317P		NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	317					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GTCCCCATCCGCGCCGCTACG	0.701													17	39					0	0	0	0	C	74684871	G	C	74684871	2	2	232	1	0	0	0	0	0	0	0	1	7800	1074	38	3		3	INO80B	2	74684871	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	25303422	74684871	168514502	59	42160											
REG1A	5967	broad.mit.edu	37	chr2	79349244	79349244	+	Missense_Mutation	SNP	C	C	A																															ctggattggcctccatgaccCcaaaaaggtaggctgcagcc																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:79349244C>A	ENST00000233735.1	+	4	417	c.314C>A	c.(313-315)cCc>cAc	p.P105H		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	105	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CTCCATGACCCCAAAAAGGTA	0.493													25	63					4.87955e-14	6.07906e-14	1	0	A	79349244	C	A	79349244	3	1	232	1	0	0	0	0	1	0	0	0	13292	623	22	4	324	4	REG1A	2	79349244	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	4664373	79349244	163850129	60	42161	323	2									
REG1A	5967	broad.mit.edu	37	chr2	79349245	79349245	+	Silent	SNP	C	C	A																															tggattggcctccatgacccCaaaaaggtaggctgcagcct																								rs3181912		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:79349245C>A	ENST00000233735.1	+	4	418	c.315C>A	c.(313-315)ccC>ccA	p.P105P		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	105	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TCCATGACCCCAAAAAGGTAG	0.488													27	59					7.26314e-15	9.18005e-15	1	0	A	79349245	C	A	79349245	2	1	232	1	0	0	0	0	0	0	0	1	13292	581	21	4		4	REG1A	2	79349245	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1	79349245	163850128	61	42162	323	2									
LRRTM1	347730	broad.mit.edu	37	chr2	80530249	80530249	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcgagtgcagggagatGaggcgcgggaagtgggcgaa	11	3	21	6	4	0	3	0	1	0	2	0	7	0	4	0	4	2	1	0	4	2	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:80530249G>T	ENST00000295057.3	-	2	1352	c.696C>A	c.(694-696)ctC>ctA	p.L232L	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.L232L|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	232						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCAGGGAGATGAGGCGCGGGA	0.592										HNSCC(69;0.2)			59	111					6.09941e-20	8.46779e-20	1	0	T	80530249	G	T	80530249	2	4	232	1	0	0	0	0	0	0	0	1	9103	1277	45	2		2	LRRTM1	2	80530249	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1181004	80530249	162669124	62	42163											
LRRTM1	347730	broad.mit.edu	37	chr2	80530450	80530450	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgttggcccgcatatgcagCgtggtgagcttccgcagccc	5	8	14	14	4	0	1	0	1	0	0	1	1	1	1	3	2	4	5	3	2	1	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:80530450C>G	ENST00000295057.3	-	2	1151	c.495G>C	c.(493-495)acG>acC	p.T165T	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.T165T|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	165						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCATATGCAGCGTGGTGAGCT	0.622										HNSCC(69;0.2)			21	59					0	0	0	0	G	80530450	C	G	80530450	2	3	232	1	0	0	0	0	0	0	0	1	9103	755	27	3		3	LRRTM1	2	80530450	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	201	80530450	162668923	63	42164											
CTNNA2	1496	broad.mit.edu	37	chr2	80816488	80816488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagctgagcaggtggagatAttccatcaagagaaaagcaa	17	7	11	6	0	1	3	1	1	0	2	2	5	2	3	1	2	3	3	1	2	6	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:80816488A>G	ENST00000466387.1	+	19	2791	c.2067A>G	c.(2065-2067)atA>atG	p.I689M	CTNNA2_ENST00000361291.4_Missense_Mutation_p.I723M|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.I689M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.I689M|CTNNA2_ENST00000343114.3_Missense_Mutation_p.I368M|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.I689M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.I689M|AC008067.2_ENST00000430876.1_RNA			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	689					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGGTGGAGATATTCCATCAAG	0.493													22	52					0	0	0	0	G	80816488	A	G	80816488	3	3	232	1	0	0	0	0	1	0	0	0	4045	439	16	5	1913	5	CTNNA2	2	80816488	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	286038	80816488	162382885	64	42165											
TRIM43	129868	broad.mit.edu	37	chr2	96260164	96260164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacaccatcccatcgaagaGgcagctgaggaacaccgggt	14	4	11	12	2	0	2	0	1	0	1	2	4	1	3	3	3	3	2	3	3	3	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:96260164G>T	ENST00000272395.2	+	2	529	c.393G>T	c.(391-393)gaG>gaT	p.E131D		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	131						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCATCGAAGAGGCAGCTGAGG	0.488													34	76					5.43694e-19	7.39084e-19	1	0	T	96260164	G	T	96260164	3	4	232	1	0	0	0	0	1	0	0	0	16613	991	35	4	395	4	TRIM43	2	96260164	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	15443676	96260164	146939209	65	42166											
ZAP70	7535	broad.mit.edu	37	chr2	98351166	98351166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcgccagggcgtgtaccGcatgcgcaagtatggccgcc	7	6	15	13	5	0	0	0	0	0	0	0	0	0	0	4	2	3	4	4	2	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:98351166G>T	ENST00000264972.5	+	9	1288	c.1073G>T	c.(1072-1074)cGc>cTc	p.R358L	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.R232L|ZAP70_ENST00000451498.2_Missense_Mutation_p.R51L	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	358	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGCGTGTACCGCATGCGCAAG	0.637													46	44					6.31075e-24	9.22749e-24	1	0	T	98351166	G	T	98351166	3	4	232	1	0	0	0	0	1	0	0	0	17610	1087	38	3	1099	3	ZAP70	2	98351166	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2091002	98351166	144848207	66	42167											
EDAR	10913	broad.mit.edu	37	chr2	109547447	109547447	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggggagccagggcgtctgCgtgcagtcccccacatgggc	6	5	16	14	3	1	0	0	0	1	0	2	1	2	1	3	4	3	1	3	4	0	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:109547447C>A	ENST00000409271.1	-	3	467	c.24G>T	c.(22-24)acG>acT	p.T8T	EDAR_ENST00000376651.1_Silent_p.T8T|EDAR_ENST00000258443.2_Silent_p.T8T			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	8					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGGGCGTCTGCGTGCAGTCCC	0.627													54	112					3.31993e-32	5.08212e-32	1	0	A	109547447	C	A	109547447	2	1	232	1	0	0	0	0	0	0	0	1	4941	755	27	3		3	EDAR	2	109547447	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	11196281	109547447	133651926	67	42168											
DPP10	57628	broad.mit.edu	37	chr2	116599915	116599915	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggaaccagaagaagaTgaataatggactgtatttat	17	9	9	6	0	0	4	0	1	0	3	0	6	0	6	2	2	1	1	2	2	7	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:116599915T>A	ENST00000410059.1	+	26	2865	c.2385T>A	c.(2383-2385)gaT>gaA	p.D795E	DPP10_ENST00000393147.2_Missense_Mutation_p.D799E|DPP10_ENST00000409163.1_Missense_Mutation_p.D745E|DPP10_ENST00000310323.8_Missense_Mutation_p.D788E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	795					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGAAGAAGATGAATAATGGA	0.383													31	50					0	0	0	0	A	116599915	T	A	116599915	3	1	232	1	0	0	0	0	1	0	0	0	4763	1461	51	5	2658	5	DPP10	2	116599915	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	7052468	116599915	126599458	68	42169											
INHBB	3625	broad.mit.edu	37	chr2	121107382	121107382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtccatgctgtacttcGatgatgagtacaacatcgtc	10	12	8	11	2	0	2	0	2	0	0	4	3	1	2	2	0	4	3	2	0	3	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:121107382G>T	ENST00000295228.3	+	2	1202	c.1156G>T	c.(1156-1158)Gat>Tat	p.D386Y		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	386					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GCTGTACTTCGATGATGAGTA	0.607													19	51					1.56452e-12	1.9216e-12	1	0	T	121107382	G	T	121107382	3	4	232	1	0	0	0	0	1	0	0	0	7795	1058	37	3	1162	3	INHBB	2	121107382	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	4507467	121107382	122091991	69	42170											
CNTNAP5	129684	broad.mit.edu	37	chr2	125284996	125284996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggttccctggggaattttAgtgatttacacattgatctg	10	15	10	6	0	1	2	0	2	1	0	2	3	2	3	1	3	1	1	1	3	4	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:125284996A>G	ENST00000431078.1	+	10	1973	c.1609A>G	c.(1609-1611)Agt>Ggt	p.S537G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	537	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGGAATTTTAGTGATTTACA	0.423													48	88					0	0	0	0	G	125284996	A	G	125284996	3	3	232	1	0	0	0	0	1	0	0	0	3680	420	15	5	1647	5	CNTNAP5	2	125284996	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	4177614	125284996	117914377	70	42171											
LRP1B	53353	broad.mit.edu	37	chr2	141359046	141359046	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatccaaggctagcacaTgtggatggtcatcttctgac	10	12	9	10	0	4	1	2	1	2	0	5	2	5	2	1	3	1	2	1	3	2	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:141359046T>C	ENST00000389484.3	-	42	7933	c.6962A>G	c.(6961-6963)cAt>cGt	p.H2321R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2321					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCTAGCACATGTGGATGGTC	0.403										TSP Lung(27;0.18)			15	45					0	0	0	0	C	141359046	T	C	141359046	3	2	232	1	0	0	0	0	1	0	0	0	9019	1464	51	5	7037	5	LRP1B	2	141359046	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	16074050	141359046	101840327	71	42172											
KCNJ3	3760	broad.mit.edu	37	chr2	155555407	155555407	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagcagcttgtgcccaaGaagaagcggcagcggttcgt	10	6	14	11	3	0	2	0	0	0	2	1	2	0	2	1	2	6	5	1	2	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:155555407G>A	ENST00000295101.2	+	1	597	c.120G>A	c.(118-120)aaG>aaA	p.K40K	KCNJ3_ENST00000544049.1_Silent_p.K40K	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	40			K -> R (in dbSNP:rs16838016).		synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTGTGCCCAAGAAGAAGCGGC	0.617													24	44					0	0	0	0	A	155555407	G	A	155555407	2	1	232	1	0	0	0	0	0	0	0	1	8105	933	33	2		2	KCNJ3	2	155555407	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	14196361	155555407	87643966	72	42173											
KCNJ3	3760	broad.mit.edu	37	chr2	155711434	155711434	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcatgtcgtcccctttaaTagcaccagccataactaaca	12	11	4	14	1	1	0	1	0	1	0	4	0	2	0	4	0	4	1	4	0	4	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:155711434T>A	ENST00000295101.2	+	3	1592	c.1115T>A	c.(1114-1116)aTa>aAa	p.I372K	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	372					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCCCCTTTAATAGCACCAGCC	0.413													28	88					0	0	0	0	A	155711434	T	A	155711434	3	1	232	1	0	0	0	0	1	0	0	0	8105	1406	49	5	1125	5	KCNJ3	2	155711434	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	156027	155711434	87487939	73	42174											
GALNT3	2591	broad.mit.edu	37	chr2	166618451	166618451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagcgtttcagctgttgCgactgttgctcctagcaacc	6	13	11	11	2	1	1	1	1	0	0	2	2	2	1	2	0	6	6	2	0	2	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:166618451C>A	ENST00000392701.3	-	4	1577	c.802G>T	c.(802-804)Gca>Tca	p.A268S		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	268	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TCAGCTGTTGCGACTGTTGCT	0.358													23	66					4.54149e-19	6.1897e-19	1	0	A	166618451	C	A	166618451	3	1	232	1	0	0	0	0	1	0	0	0	6263	768	27	3	1131	3	GALNT3	2	166618451	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	10907017	166618451	76580922	74	42175											
XIRP2	129446	broad.mit.edu	37	chr2	168101077	168101077	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaatctgccaaatggttgTttgaaacccaacctcttgat	12	13	7	9	0	2	3	0	3	2	0	2	3	2	3	3	1	3	2	3	1	4	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:168101077T>A	ENST00000409195.1	+	9	3264	c.3175T>A	c.(3175-3177)Ttt>Att	p.F1059I	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F837I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.F1059I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	884					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						CAAATGGTTGTTTGAAACCCA	0.318													21	39					0	0	0	0	A	168101077	T	A	168101077	3	1	232	1	0	0	0	0	1	0	0	0	17526	1725	60	5	3205	5	XIRP2	2	168101077	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	1482626	168101077	75098296	75	42176											
XIRP2	129446	broad.mit.edu	37	chr2	168106303	168106303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagataagctcaagatggttCccaggaagcaaagagaattt	17	8	10	6	0	1	3	1	0	0	3	2	5	2	4	1	2	2	3	1	2	6	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:168106303C>A	ENST00000409195.1	+	9	8490	c.8401C>A	c.(8401-8403)Ccc>Acc	p.P2801T	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2579T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2801T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2626					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						CAAGATGGTTCCCAGGAAGCA	0.408													29	45					1.80694e-10	2.13883e-10	1	0	A	168106303	C	A	168106303	3	1	232	1	0	0	0	0	1	0	0	0	17526	855	30	2	8431	2	XIRP2	2	168106303	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	5226	168106303	75093070	76	42177											
LRP2	4036	broad.mit.edu	37	chr2	170013897	170013897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctagacaggaggttctGtcaaaaacattggtttcgaa	13	11	9	8	1	2	1	1	0	1	1	3	3	2	2	1	3	2	2	1	3	5	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:170013897G>A	ENST00000263816.3	-	64	12288	c.12003C>T	c.(12001-12003)gaC>gaT	p.D4001D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4001	EGF-like 14.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGAGGTTCTGTCAAAAACAT	0.383													19	39					0	0	0	0	A	170013897	G	A	170013897	2	1	232	1	0	0	0	0	0	0	0	1	9020	1368	48	4		4	LRP2	2	170013897	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1907594	170013897	73185476	77	42178											
SLC25A12	8604	broad.mit.edu	37	chr2	172669945	172669945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacaacagagccagagcCacgctggttttgcattcggg	10	7	11	13	2	0	2	0	0	0	2	1	2	0	2	3	2	5	3	3	2	2	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:172669945C>A	ENST00000422440.2	-	11	1112	c.1075G>T	c.(1075-1077)Ggc>Tgc	p.G359C	SLC25A12_ENST00000392592.4_Missense_Mutation_p.G252C	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	359					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAGCCAGAGCCACGCTGGTTT	0.443													52	166					6.9144e-35	1.0742e-34	1	0	A	172669945	C	A	172669945	3	1	232	1	0	0	0	0	1	0	0	0	14562	594	21	4	993	4	SLC25A12	2	172669945	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	2656048	172669945	70529428	78	42179											
GPR155	151556	broad.mit.edu	37	chr2	175333771	175333771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggagcagacacaaatgTgcttatcaccatccctgagg	12	8	11	10	0	1	2	1	1	0	1	2	4	2	3	2	2	2	2	2	2	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:175333771T>C	ENST00000392552.2	-	5	1289	c.1051A>G	c.(1051-1053)Aca>Gca	p.T351A	GPR155_ENST00000392551.2_Missense_Mutation_p.T351A|GPR155_ENST00000295500.4_Missense_Mutation_p.T351A	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	351					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GACACAAATGTGCTTATCACC	0.398													28	79					0	0	0	0	C	175333771	T	C	175333771	3	2	232	1	0	0	0	0	1	0	0	0	6709	1696	59	5	1609	5	GPR155	2	175333771	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	2663826	175333771	67865602	79	42180											
TTN	7273	broad.mit.edu	37	chr2	179462734	179462734	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatttgtagaatgctccttCctttaatcctgtcacaacaa	13	14	4	10	0	1	1	1	0	0	1	4	1	4	1	3	0	2	2	3	0	6	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:179462734C>A	ENST00000589042.1	-	293	57387	c.57163G>T	c.(57163-57165)Gaa>Taa	p.E19055*	TTN_ENST00000359218.5_Nonsense_Mutation_p.E10115*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E16487*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E9990*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E10182*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E17414*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17414	Fibronectin type-III 38.						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)			AATGCTCCTTCCTTTAATCCT	0.388													66	187					4.83874e-46	7.91794e-46	1	0	A	179462734	C	A	179462734	4	1	232	1	0	0	0	0	0	1	0	0	16831	864	30	2	50810	2	TTN	2	179462734	Nonsense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	4128963	179462734	63736639	80	42181											
TTN	7273	broad.mit.edu	37	chr2	179578813	179578813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaccacttagtactgagttCaggggtgccagctactgtac	11	10	10	10	0	1	1	1	1	0	0	1	1	1	1	2	2	6	4	2	2	5	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:179578813C>T	ENST00000589042.1	-	92	26796	c.26572G>A	c.(26572-26574)Gaa>Aaa	p.E8858K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E7614K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8541K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8541	Ig-like 71.						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)			GTACTGAGTTCAGGGGTGCCA	0.413													19	46					0	0	0	0	T	179578813	C	T	179578813	3	4	232	1	0	0	0	0	1	0	0	0	16831	835	29	2	78041	2	TTN	2	179578813	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	116079	179578813	63620560	81	42182											
COL3A1	1281	broad.mit.edu	37	chr2	189852852	189852852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtacatctggtcatcctGgttcccctgtaagtatagcc	7	13	9	12	0	2	0	1	0	1	0	4	0	4	0	4	3	2	4	4	3	4	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:189852852G>T	ENST00000304636.3	+	6	744	c.574G>T	c.(574-576)Ggt>Tgt	p.G192C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G192C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	192	Triple-helical region.		G -> V (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTCATCCTGGTTCCCCTGT	0.398													39	100					4.90776e-07	5.54513e-07	1	0	T	189852852	G	T	189852852	3	4	232	1	0	0	0	0	1	0	0	0	3718	1348	47	4	596	4	COL3A1	2	189852852	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	10274039	189852852	53346521	82	42183											
SLC39A10	57181	broad.mit.edu	37	chr2	196544871	196544871	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgaccatggccctgaagcGcttcacagacagcatcgtgg	10	7	11	13	2	1	3	1	2	0	1	2	3	1	3	2	2	2	2	2	2	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:196544871G>A	ENST00000409086.3	+	2	380	c.105G>A	c.(103-105)gcG>gcA	p.A35A	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Silent_p.A35A	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	35	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GCCCTGAAGCGCTTCACAGAC	0.368													26	46					0	0	0	0	A	196544871	G	A	196544871	2	1	232	1	0	0	0	0	0	0	0	1	14701	1074	38	1		1	SLC39A10	2	196544871	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	6692019	196544871	46654502	83	42184											
HECW2	57520	broad.mit.edu	37	chr2	197184265	197184265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgtgtcagtgggaaaaCtactcctcagtttcggagag	9	12	12	8	1	3	1	2	0	1	1	5	3	4	2	1	2	2	1	1	2	3	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:197184265C>A	ENST00000260983.2	-	9	1531	c.1349G>T	c.(1348-1350)aGt>aTt	p.S450I	HECW2_ENST00000409111.1_Missense_Mutation_p.S94I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	450					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGTGGGAAAACTACTCCTCAG	0.498													24	63					5.35356e-11	6.38027e-11	1	0	A	197184265	C	A	197184265	3	1	232	1	0	0	0	0	1	0	0	0	7093	565	20	4	3453	4	HECW2	2	197184265	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	639394	197184265	46015108	84	42185											
SATB2	23314	broad.mit.edu	37	chr2	200173595	200173595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggggaaggttcaggaagCgacggatggtacagaggttt	10	8	18	5	2	1	1	1	0	0	1	1	5	1	4	0	7	2	4	0	7	3	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:200173595C>T	ENST00000443023.1	-	9	2916	c.1451G>A	c.(1450-1452)cGc>cAc	p.R484H	SATB2_ENST00000260926.5_Missense_Mutation_p.R543H|SATB2_ENST00000457245.1_Missense_Mutation_p.R543H|SATB2_ENST00000417098.1_Missense_Mutation_p.R543H|SATB2_ENST00000428695.1_Missense_Mutation_p.R425H			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	543						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTCAGGAAGCGACGGATGGT	0.572													5	112					0	0	0	0	T	200173595	C	T	200173595	3	4	232	1	0	0	0	0	1	0	0	0	13940	768	27	1	581	1	SATB2	2	200173595	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	2989330	200173595	43025778	85	42186											
MDH1B	130752	broad.mit.edu	37	chr2	207621698	207621698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctttttctatatgtgcccCcaggttctcttgagcaatta	7	17	6	11	0	3	1	0	1	3	0	4	1	3	1	2	1	2	2	2	1	4	7			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:207621698C>T	ENST00000374412.3	-	4	612	c.337G>A	c.(337-339)Ggg>Agg	p.G113R	MDH1B_ENST00000449792.1_Missense_Mutation_p.G15R|MDH1B_ENST00000454776.2_Missense_Mutation_p.G113R|MDH1B_ENST00000392214.2_Missense_Mutation_p.G113R	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	113					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ATATGTGCCCCCAGGTTCTCT	0.443													31	76					0	0	0	0	T	207621698	C	T	207621698	3	4	232	1	0	0	0	0	1	0	0	0	9478	623	22	4	1255	4	MDH1B	2	207621698	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	7448103	207621698	35577675	86	42187											
MDH1B	130752	broad.mit.edu	37	chr2	207621966	207621966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttaacttatatacctgagCatgctccaggaactcattat	13	13	6	9	0	1	1	1	1	0	0	2	2	2	2	2	1	5	3	2	1	6	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:207621966C>A	ENST00000374412.3	-	3	540	c.265G>T	c.(265-267)Gct>Tct	p.A89S	MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000454776.2_Missense_Mutation_p.A89S|MDH1B_ENST00000392214.2_Missense_Mutation_p.A89S	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	89					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TATACCTGAGCATGCTCCAGG	0.363													25	92					3.7963e-18	5.01689e-18	1	0	A	207621966	C	A	207621966	3	1	232	1	0	0	0	0	1	0	0	0	9478	710	25	4	1331	4	MDH1B	2	207621966	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	268	207621966	35577407	87	42188											
VWC2L	402117	broad.mit.edu	37	chr2	215279018	215279018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agactatcctgctgatgaagGtgaccagatctccagtaatg	12	10	10	9	0	1	5	0	3	1	2	3	5	2	5	3	1	1	2	3	1	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:215279018G>A	ENST00000312504.5	+	2	903	c.101G>A	c.(100-102)gGt>gAt	p.G34D	VWC2L_ENST00000427124.1_Missense_Mutation_p.G34D|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	34						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GCTGATGAAGGTGACCAGATC	0.448													28	55					0	0	0	0	A	215279018	G	A	215279018	3	1	232	1	0	0	0	0	1	0	0	0	17340	1261	44	4	103	4	VWC2L	2	215279018	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	7657052	215279018	27920355	88	42189											
ABCA12	26154	broad.mit.edu	37	chr2	215843554	215843554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggtggtatctgaaatgcCgtagcacccgatgttgaggt	9	10	13	9	3	1	2	0	2	1	0	1	3	1	2	2	3	2	4	2	3	3	3	rs28940568		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:215843554C>T	ENST00000272895.7	-	32	5170	c.4951G>A	c.(4951-4953)Ggc>Agc	p.G1651S	ABCA12_ENST00000389661.4_Missense_Mutation_p.G1333S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1651			G -> S (in LI2; dbSNP:rs28940568).		cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTGAAATGCCGTAGCACCCG	0.458													30	90					0	0	0	0	T	215843554	C	T	215843554	3	4	232	1	0	0	0	0	1	0	0	0	30	652	23	1	2924	1	ABCA12	2	215843554	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	564536	215843554	27355819	89	42190											
DOCK10	55619	broad.mit.edu	37	chr2	225740756	225740756	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcttcatatgctctcaccCagacccagatcagtgagctc	9	9	8	15	1	3	3	3	1	1	2	5	3	3	3	2	1	2	3	2	1	1	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:225740756C>A	ENST00000409592.3	-	8	1025	c.913_splice	c.e8+1	p.L304_splice	DOCK10_ENST00000258390.7_Splice_Site_p.L310_splice			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	310							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGCTCTCACCCAGACCCAGAT	0.517													20	87					8.10497e-08	9.27806e-08	1	0	A	225740756	C	A	225740756	5	1	232	1	0	0	0	0	0	0	1	0	4721	608	21	4	5826	4	DOCK10	2	225740756	Splice_Site	SNP	C	TCGA-CV-5441-01A-01D-1512-08	9897202	225740756	17458617	90	42191											
NMUR1	10316	broad.mit.edu	37	chr2	232390072	232390072	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtccactgtgacacgacGctccacatgacgcggtcggc	7	8	11	15	5	1	2	0	2	1	0	4	3	3	2	2	2	0	1	2	2	0	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:232390072G>C	ENST00000305141.4	-	3	1096	c.963C>G	c.(961-963)agC>agG	p.S321R		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	321					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTGACACGACGCTCCACATGA	0.657													28	64					0	0	0	0	C	232390072	G	C	232390072	3	2	232	1	0	0	0	0	1	0	0	0	10576	1078	38	3	321	3	NMUR1	2	232390072	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	6649316	232390072	10809301	91	42192											
ESPNL	339768	broad.mit.edu	37	chr2	239040038	239040038	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acctgggcacccacggctggGaggctgtgcgcgccttccac	5	6	14	16	3	0	0	0	0	0	0	1	1	1	1	4	4	1	3	4	4	0	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:239040038G>C	ENST00000343063.3	+	9	2946	c.2683G>C	c.(2683-2685)Gag>Cag	p.E895Q	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Missense_Mutation_p.E527Q|ESPNL_ENST00000409169.1_Missense_Mutation_p.E851Q	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	895										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCACGGCTGGGAGGCTGTGCG	0.687													5	13					0	0	0	0	C	239040038	G	C	239040038	3	2	232	1	0	0	0	0	1	0	0	0	5293	1175	41	2	2717	2	ESPNL	2	239040038	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	6649966	239040038	4159335	92	42193											
CNTN4	152330	broad.mit.edu	37	chr3	3067852	3067852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagagtattgttttacCgtgccaggtaacgcatgatc	10	12	12	7	2	0	2	0	1	0	1	1	4	0	3	2	2	3	4	2	2	3	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:3067852C>A	ENST00000397461.1	+	14	1937	c.1553C>A	c.(1552-1554)cCg>cAg	p.P518Q	CNTN4_ENST00000448906.2_Missense_Mutation_p.P190Q|CNTN4_ENST00000427331.1_Missense_Mutation_p.P518Q|CNTN4_ENST00000397459.2_Missense_Mutation_p.P190Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.P299Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.P518Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	518	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTGTTTTACCGTGCCAGGTA	0.423													22	59					7.41877e-09	8.58748e-09	1	0	A	3067852	C	A	3067852	3	1	232	1	0	0	0	0	1	0	0	0	3673	652	23	3	1599	3	CNTN4	3	3067852	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08		3067852	194954578	93	42194											
STAC	6769	broad.mit.edu	37	chr3	36524549	36524549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatccaccacaagtgcacaGatggcctggcaccccagcgg	10	4	11	16	1	0	1	0	0	0	1	1	1	1	1	5	3	2	3	5	3	1	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:36524549G>A	ENST00000273183.3	+	3	754	c.454G>A	c.(454-456)Gat>Aat	p.D152N	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Intron	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	152					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CAAGTGCACAGATGGCCTGGC	0.557													22	62					0	0	0	0	A	36524549	G	A	36524549	3	1	232	1	0	0	0	0	1	0	0	0	15329	942	33	2	464	2	STAC	3	36524549	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	33456697	36524549	161497881	94	42195											
CX3CR1	1524	broad.mit.edu	37	chr3	39307932	39307932	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagaccacgatgtccccAatataacaggcctcagccaa	15	5	6	15	1	1	1	1	0	0	1	2	2	2	1	6	1	2	0	6	1	5	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:39307932A>T	ENST00000541347.1	-	2	308	c.69T>A	c.(67-69)atT>atA	p.I23I	CX3CR1_ENST00000358309.3_Silent_p.I55I|CX3CR1_ENST00000399220.2_Silent_p.I23I|CX3CR1_ENST00000542107.1_Silent_p.I23I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	23					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CGATGTCCCCAATATAACAGG	0.458													15	39					0	0	0	0	T	39307932	A	T	39307932	2	4	232	1	0	0	0	0	0	0	0	1	4107	126	5	5		5	CX3CR1	3	39307932	Silent	SNP	A	TCGA-CV-5441-01A-01D-1512-08	2783383	39307932	158714498	95	42196											
SETD2	29072	broad.mit.edu	37	chr3	47147518	47147518	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggccatgaaatagtaaTggatgtttttgtttcgtgca	10	15	11	5	1	1	1	1	1	0	0	2	2	1	2	1	2	1	4	1	2	3	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:47147518T>C	ENST00000409792.3	-	6	4850	c.4808A>G	c.(4807-4809)cAt>cGt	p.H1603R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1603	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAAATAGTAATGGATGTTTTT	0.398			"N, F, S, Mis"		clear cell renal carcinoma								43	142					0	0	0	0	C	47147518	T	C	47147518	3	2	232	1	0	0	0	0	1	0	0	0	14218	1464	51	5	2950	5	SETD2	3	47147518	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	7839586	47147518	150874912	96	42197											
SLC25A20	788	broad.mit.edu	37	chr3	48896061	48896061	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattaggatatttcccaggaGgtgctgtggggcagaaccca	10	9	13	9	0	0	1	0	0	0	1	1	3	1	3	2	5	2	2	2	5	3	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:48896061G>C	ENST00000319017.4	-	8	920	c.722C>G	c.(721-723)cCt>cGt	p.P241R	SLC25A20_ENST00000544097.1_Missense_Mutation_p.P191R|SLC25A20_ENST00000430379.1_Missense_Mutation_p.P168R	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	241					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TTTCCCAGGAGGTGCTGTGGG	0.483													25	107					0	0	0	0	C	48896061	G	C	48896061	3	2	232	1	0	0	0	0	1	0	0	0	14571	1000	35	4	191	4	SLC25A20	3	48896061	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1748543	48896061	149126369	97	42198											
AMIGO3	386724	broad.mit.edu	37	chr3	49755534	49755534	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccggcctggctccagaaaGactacgtgcttgtggacgct	7	9	12	13	3	0	2	0	0	0	2	2	3	2	3	3	3	2	3	3	3	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:49755534G>A	ENST00000535833.1	-	10	4815	c.1365C>T	c.(1363-1365)gtC>gtT	p.V455V	RNF123_ENST00000433785.1_Intron|GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Silent_p.V455V|RNF123_ENST00000327697.6_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	455					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTCCAGAAAGACTACGTGCT	0.637													39	75					0	0	0	0	A	49755534	G	A	49755534	2	1	232	1	0	0	0	0	0	0	0	1	577	929	33	2		2	AMIGO3	3	49755534	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	859473	49755534	148266896	98	42199											
MST1R	4486	broad.mit.edu	37	chr3	49935550	49935550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacagtgacctgatgggttCcctcaggcaccagaccagaa	11	6	10	14	0	1	4	1	2	0	2	2	4	2	4	5	2	0	2	5	2	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:49935550C>A	ENST00000296474.3	-	5	1841	c.1814G>T	c.(1813-1815)gGa>gTa	p.G605V	MST1R_ENST00000344206.4_Missense_Mutation_p.G605V	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	605	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTGATGGGTTCCCTCAGGCAC	0.577													26	63					1.33986e-20	1.8852e-20	1	0	A	49935550	C	A	49935550	3	1	232	1	0	0	0	0	1	0	0	0	9961	855	30	2	2452	2	MST1R	3	49935550	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	180016	49935550	148086880	99	42200											
ERC2	26059	broad.mit.edu	37	chr3	56330328	56330328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgctcggcttggagccGcctaaagttctcctcggtca	6	11	11	13	3	3	0	2	0	1	0	6	1	3	1	3	3	2	3	3	3	2	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:56330328G>A	ENST00000288221.6	-	3	1048	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	265						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCTTGGAGCCGCCTAAAGTTC	0.542													57	141					0	0	0	0	A	56330328	G	A	56330328	3	1	232	1	0	0	0	0	1	0	0	0	5249	1086	38	1	2130	1	ERC2	3	56330328	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	6394778	56330328	141692102	100	42201											
PDZRN3	23024	broad.mit.edu	37	chr3	73433074	73433074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcagctgcatgtagctCtggtagtgctgggcgtgcgc	5	11	16	9	2	2	0	1	0	1	0	2	1	2	1	0	3	5	6	0	3	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:73433074C>A	ENST00000263666.4	-	10	2757	c.2643G>T	c.(2641-2643)caG>caT	p.Q881H	PDZRN3_ENST00000462146.2_Missense_Mutation_p.Q538H|PDZRN3_ENST00000535920.1_Missense_Mutation_p.Q603H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.Q598H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.Q538H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	881							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCATGTAGCTCTGGTAGTGCT	0.642													29	69					7.6516e-34	1.1817e-33	1	0	A	73433074	C	A	73433074	3	1	232	1	0	0	0	0	1	0	0	0	11780	912	32	2	561	2	PDZRN3	3	73433074	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	17102746	73433074	124589356	101	42202											
ROBO2	6092	broad.mit.edu	37	chr3	77147180	77147180	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggatcgcgtcttcgccAggaggactttcccccgcgga	6	9	13	13	5	1	0	0	0	1	0	4	4	2	4	3	4	0	1	3	4	1	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:77147180A>T	ENST00000461745.1	+	2	977	c.77A>T	c.(76-78)cAg>cTg	p.Q26L	ROBO2_ENST00000487694.3_Missense_Mutation_p.Q42L|ROBO2_ENST00000332191.8_Missense_Mutation_p.Q26L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	26					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGTCTTCGCCAGGAGGACTTT	0.527													6	14					0	0	0	0	T	77147180	A	T	77147180	3	4	232	1	0	0	0	0	1	0	0	0	13599	188	7	5	85	5	ROBO2	3	77147180	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	3714106	77147180	120875250	102	42203											
C3orf38	285237	broad.mit.edu	37	chr3	88202621	88202621	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacatccacctatttcaacaGgtaaaataaatcttatggtt	15	13	5	8	0	2	0	1	0	1	0	3	1	3	0	2	2	1	2	2	2	7	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:88202621G>T	ENST00000318887.3	+	2	685	c.375_splice	c.e2+1	p.Q125_splice	C3orf38_ENST00000486971.1_Splice_Site_p.Q125_splice	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	125					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TATTTCAACAGGTAAAATAAA	0.383													14	36					0.000219431	0.000233286	1	0	T	88202621	G	T	88202621	5	4	232	1	0	0	0	0	0	0	1	0	2248	1014	35	4	381	4	C3orf38	3	88202621	Splice_Site	SNP	G	TCGA-CV-5441-01A-01D-1512-08	11055441	88202621	109819809	103	42204											
DPPA4	55211	broad.mit.edu	37	chr3	109049520	109049520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggaattttccagggcaGgcggctcccccacaggagga	9	6	14	12	1	0	0	0	0	0	0	2	3	2	3	3	6	0	2	3	6	1	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:109049520G>T	ENST00000335658.6	-	5	584	c.530C>A	c.(529-531)cCt>cAt	p.P177H	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	177						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTCCAGGGCAGGCGGCTCCCC	0.512													43	105					8.20599e-20	1.13321e-19	1	0	T	109049520	G	T	109049520	3	4	232	1	0	0	0	0	1	0	0	0	4772	1000	35	4	396	4	DPPA4	3	109049520	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	20846899	109049520	88972910	104	42205											
ZBTB20	26137	broad.mit.edu	37	chr3	114069727	114069727	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcagcctggctgtcccGcgccgccccaggcccaaact	5	6	12	18	3	1	0	1	0	0	0	2	0	2	0	6	3	2	2	6	3	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:114069727G>T	ENST00000462705.1	-	11	1800	c.979C>A	c.(979-981)Cgg>Agg	p.R327R	ZBTB20_ENST00000481632.1_Silent_p.R327R|ZBTB20_ENST00000393785.2_Silent_p.R327R|ZBTB20_ENST00000471418.1_Silent_p.R327R|ZBTB20_ENST00000357258.3_Silent_p.R327R|ZBTB20_ENST00000464560.1_Silent_p.R327R|ZBTB20_ENST00000474710.1_Silent_p.R400R	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGGCTGTCCCGCGCCGCCCCA	0.647													35	71					3.76114e-14	4.70818e-14	1	0	T	114069727	G	T	114069727	2	4	232	1	0	0	0	0	0	0	0	1	17624	1086	38	3		3	ZBTB20	3	114069727	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	5020207	114069727	83952703	105	42206											
PLXND1	23129	broad.mit.edu	37	chr3	129289977	129289977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggggaggtagtccaggCggaacctgctgccccgctgt	5	8	17	11	2	0	0	0	0	0	0	1	2	1	2	4	6	3	4	4	6	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:129289977C>T	ENST00000393239.1	-	18	3684	c.3506G>A	c.(3505-3507)cGc>cAc	p.R1169H	PLXND1_ENST00000324093.4_Missense_Mutation_p.R1169H			Q9Y4D7	PLXD1_HUMAN	plexin D1	1169					axon guidance	integral to membrane|intracellular|plasma membrane		p.R1169H(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTAGTCCAGGCGGAACCTGCT	0.632													63	189					0	0	0	0	T	129289977	C	T	129289977	3	4	232	1	0	0	0	0	1	0	0	0	12199	768	27	1	2347	1	PLXND1	3	129289977	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	15220250	129289977	68732453	106	42207											
CLSTN2	64084	broad.mit.edu	37	chr3	140122626	140122626	+	Frame_Shift_Del	DEL	G	G	-																															tcatccaggcctatgactgtGgtgctgggccccacgagaca																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:140122626delG	ENST00000458420.3	+	3	578	c.388delG	c.(388-390)gtfs	p.G130fs		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	130	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTATGACTGTGGTGCTGGGCC	0.587										HNSCC(16;0.037)			52	108	---	---	---	---					-	140122626	G	-	140122626	7	5	232	1	0	1	0	1	0	0	0	0	3592	1348	47	0	398	0	CLSTN2	3	140122626	Frame_Shift_Del	DEL	G	TCGA-CV-5441-01A-01D-1512-08	10832649	140122626	57899804	107	42208											
ZIC1	7545	broad.mit.edu	37	chr3	147127954	147127954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgtgaccacctttggcGcgtcccgccaccactccgcg	4	7	11	19	7	0	1	0	1	0	0	3	1	2	1	6	2	0	0	6	2	0	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:147127954G>A	ENST00000282928.4	+	1	784	c.55G>A	c.(55-57)Gcg>Acg	p.A19T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	19					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CACCTTTGGCGCGTCCCGCCA	0.741													15	32					0	0	0	0	A	147127954	G	A	147127954	3	1	232	1	0	0	0	0	1	0	0	0	17773	1087	38	1	57	1	ZIC1	3	147127954	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	7005328	147127954	50894476	108	42209											
SLITRK3	22865	broad.mit.edu	37	chr3	164907542	164907542	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtctgataaggagcaatGggaggctggtttggaccagg	9	9	17	6	0	1	1	0	1	1	0	1	4	1	4	1	7	1	3	1	7	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:164907542G>C	ENST00000475390.1	-	2	1520	c.1077C>G	c.(1075-1077)ccC>ccG	p.P359P	SLITRK3_ENST00000241274.3_Silent_p.P359P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	359						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAGGAGCAATGGGAGGCTGGT	0.502										HNSCC(40;0.11)			68	188					0	0	0	0	C	164907542	G	C	164907542	2	2	232	1	0	0	0	0	0	0	0	1	14832	1335	47	4		4	SLITRK3	3	164907542	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	17779588	164907542	33114888	109	42210											
SLC7A14	57709	broad.mit.edu	37	chr3	170216503	170216503	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctccgcccagtatttccCattgatgaagaagaggcctg	9	9	10	13	1	0	4	0	2	0	2	2	4	2	4	5	1	0	1	5	1	3	3	rs141548910		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:170216503C>A	ENST00000231706.4	-	4	1027	c.712G>T	c.(712-714)Ggg>Tgg	p.G238W	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	238						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAGTATTTCCCATTGATGAAG	0.522													31	76					2.48696e-23	3.61613e-23	1	0	A	170216503	C	A	170216503	3	1	232	1	0	0	0	0	1	0	0	0	14784	594	21	4	1623	4	SLC7A14	3	170216503	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	5308961	170216503	27805927	110	42211											
SPATA16	83893	broad.mit.edu	37	chr3	172835328	172835329	+	Frame_Shift_Ins	INS	-	-	T																															ttctttgatgccctttgtcaINStttttgttctttcaagtgtg																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:172835328_172835329insT	ENST00000351008.3	-	2	376_377	c.193_194insA	c.(193-195)gacfs	p.D65fs		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	65					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GCCCTTTGTCATTTTTGTTCTT	0.401													84	305	---	---	---	---					T	172835329	-	T	172835328	7	5	232	1	0	1	1	0	0	0	0	0	15091	217	8	0	1555	0	SPATA16	3	172835328	Frame_Shift_Ins	INS	-	TCGA-CV-5441-01A-01D-1512-08	2618825	172835328	25187102	111	42212											
NLGN1	22871	broad.mit.edu	37	chr3	173997336	173997336	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttccctatgtactgggaatCcccatgattggccctacaga	9	11	9	12	0	0	2	0	1	0	1	2	3	2	3	4	2	2	2	4	2	4	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:173997336C>A	ENST00000457714.1	+	6	1974	c.1545C>A	c.(1543-1545)atC>atA	p.I515I	NLGN1_ENST00000401917.3_Silent_p.I555I|NLGN1_ENST00000361589.4_Silent_p.I515I|NLGN1_ENST00000545397.1_Silent_p.I515I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	532					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TACTGGGAATCCCCATGATTG	0.443													27	55					5.61819e-17	7.31345e-17	1	0	A	173997336	C	A	173997336	2	1	232	1	0	0	0	0	0	0	0	1	10531	845	30	2		2	NLGN1	3	173997336	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1162008	173997336	24025094	112	42213											
CLCN2	1181	broad.mit.edu	37	chr3	184076565	184076565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccaatcttcaccaaccCtggatactaggaacttgtgg	12	10	8	11	0	2	1	1	0	1	1	3	3	3	3	3	3	3	0	3	3	5	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:184076565C>T	ENST00000265593.4	-	3	428	c.257G>A	c.(256-258)aGg>aAg	p.R86K	CLCN2_ENST00000434054.2_Intron|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.R86K|CLCN2_ENST00000344937.7_Missense_Mutation_p.R86K|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	86						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTCACCAACCCTGGATACTAG	0.557													3	15					0	0	0	0	T	184076565	C	T	184076565	3	4	232	1	0	0	0	0	1	0	0	0	3493	681	24	4	2527	4	CLCN2	3	184076565	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	10079229	184076565	13945865	113	42214											
EPHB3	2049	broad.mit.edu	37	chr3	184294701	184294701	+	Frame_Shift_Del	DEL	C	C	-																															tgatcctcgagtggagtgagCcccgggacctgggtggccgg																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:184294701delC	ENST00000330394.2	+	5	1536	c.1084delC	c.(1084-1086)ccfs	p.P362fs	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	362	Fibronectin type-III 1.					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)			GTGGAGTGAGCCCCGGGACCT	0.577													56	163	---	---	---	---					-	184294701	C	-	184294701	7	5	232	1	0	1	0	1	0	0	0	0	5214	739	26	0	1102	0	EPHB3	3	184294701	Frame_Shift_Del	DEL	C	TCGA-CV-5441-01A-01D-1512-08	218136	184294701	13727729	114	42215											
PAK2	5062	broad.mit.edu	37	chr3	196541368	196541368	+	Frame_Shift_Del	DEL	G	G	-																															tggtcatggaataccttgctGgggggtcactcactgatgtg																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:196541368delG	ENST00000327134.3	+	11	1304	c.982delG	c.(982-984)ggfs	p.G329fs		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	329	Protein kinase.			G -> R (in Ref. 3; AAA75468).	axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ATACCTTGCTGGGGGGTCACT	0.408													63	204	---	---	---	---					-	196541368	G	-	196541368	7	5	232	1	0	1	0	1	0	0	0	0	11472	1348	47	0	1020	0	PAK2	3	196541368	Frame_Shift_Del	DEL	G	TCGA-CV-5441-01A-01D-1512-08	12246667	196541368	1481062	115	42216											
POLN	353497	broad.mit.edu	37	chr4	2175683	2175683	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atctggaataataacttaccCcaagaagtgctgacgtcttc	13	11	7	10	1	2	2	0	1	2	1	3	3	2	3	2	1	3	1	2	1	6	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:2175683C>G	ENST00000511885.2	-	11	1726	c.1374_splice	c.e11+1	p.G458_splice	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Splice_Site_p.G458_splice			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	458					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ATAACTTACCCCAAGAAGTGC	0.438								DNA polymerases (catalytic subunits)					130	105					0	0	0	0	G	2175683	C	G	2175683	5	3	232	1	0	0	0	0	0	0	1	0	12279	637	22	4	1393	4	POLN	4	2175683	Splice_Site	SNP	C	TCGA-CV-5441-01A-01D-1512-08		2175683	188978593	116	42217											
GRXCR1	389207	broad.mit.edu	37	chr4	43022369	43022369	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctactctctctcgttaatAgggtgctgagaaaattttgt	9	15	8	9	1	2	1	0	1	2	1	4	2	2	1	1	1	2	2	1	1	5	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:43022369A>T	ENST00000399770.2	+	3	627		c.e3-1			NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1						cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TCTCGTTAATAGGGTGCTGAG	0.343													38	22					0	0	0	0	T	43022369	A	T	43022369	5	4	232	1	0	0	0	0	0	0	1	0	6862	434	15	5	636	5	GRXCR1	4	43022369	Splice_Site	SNP	A	TCGA-CV-5441-01A-01D-1512-08	40846686	43022369	148131907	117	42218											
GABRA2	2555	broad.mit.edu	37	chr4	46252598	46252598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcataagcgttgttctgtatCataacggaagccttttcttt	9	16	8	8	2	3	0	1	0	2	0	3	1	3	1	1	1	3	4	1	1	4	8			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:46252598C>T	ENST00000510861.1	-	10	1256	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	GABRA2_ENST00000514090.1_Missense_Mutation_p.M361I|GABRA2_ENST00000381620.4_Missense_Mutation_p.M361I|GABRA2_ENST00000507069.1_Missense_Mutation_p.M421I|GABRA2_ENST00000356504.1_Missense_Mutation_p.M361I|GABRA2_ENST00000540012.1_Missense_Mutation_p.M366I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	361					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTCTGTATCATAACGGAAG	0.398													8	105					0	0	0	0	T	46252598	C	T	46252598	3	4	232	1	0	0	0	0	1	0	0	0	6209	826	29	2	276	2	GABRA2	4	46252598	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	3230229	46252598	144901678	118	42219											
LPHN3	23284	broad.mit.edu	37	chr4	62813846	62813846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaatttcaaccctaactGttcattttggagctactcca	12	13	6	10	0	2	0	2	0	0	0	3	2	3	2	2	2	4	2	2	2	5	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:62813846G>A	ENST00000512091.1	+	16	3200	c.2453G>A	c.(2452-2454)tGt>tAt	p.C818Y	LPHN3_ENST00000507625.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000514591.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.C818Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	805	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AACCCTAACTGTTCATTTTGG	0.378													35	21					0	0	0	0	A	62813846	G	A	62813846	3	1	232	1	0	0	0	0	1	0	0	0	8981	1377	48	4	2507	4	LPHN3	4	62813846	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	16561248	62813846	128340430	119	42220											
LPHN3	23284	broad.mit.edu	37	chr4	62845283	62845283	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcattgtgtttccagcaCagtgatgcggtccatgacct	7	15	9	10	1	1	2	1	2	0	0	3	2	3	2	3	1	2	2	3	1	0	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:62845283C>A	ENST00000512091.1	+	17	3351	c.2604C>A	c.(2602-2604)caC>caA	p.H868Q	LPHN3_ENST00000507625.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.H868Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	855					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTTTCCAGCACAGTGATGCGG	0.413													146	86					7.32983e-86	1.23824e-85	1	0	A	62845283	C	A	62845283	3	1	232	1	0	0	0	0	1	0	0	0	8981	477	17	4	2662	4	LPHN3	4	62845283	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	31437	62845283	128308993	120	42221											
PPM1K	152926	broad.mit.edu	37	chr4	89199527	89199527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaattggctcatcaatgCggttatcccagatcccaaaa	13	9	8	11	1	2	2	2	0	0	2	4	2	4	2	2	2	1	3	2	2	5	2	rs146041562		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:89199527C>T	ENST00000295908.6	-	2	598	c.209G>A	c.(208-210)cGc>cAc	p.R70H	PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000506423.1_Missense_Mutation_p.R70H|PPM1K_ENST00000315194.4_Missense_Mutation_p.R70H	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	70					protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CTCATCAATGCGGTTATCCCA	0.512													30	25					0	0	0	0	T	89199527	C	T	89199527	3	4	232	1	0	0	0	0	1	0	0	0	12419	768	27	1	933	1	PPM1K	4	89199527	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	26354244	89199527	101954749	121	42222											
CTSO	1519	broad.mit.edu	37	chr4	156860668	156860668	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccactgcccccaccacgCtgaaggcccagcatcctcca	9	6	6	20	1	0	1	0	1	0	0	3	1	3	1	7	1	2	2	7	1	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:156860668C>G	ENST00000433477.3	-	4	476	c.407G>C	c.(406-408)aGc>aCc	p.S136T		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	136					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCCCACCACGCTGAAGGCCCA	0.438													88	67					0	0	0	0	G	156860668	C	G	156860668	3	3	232	1	0	0	0	0	1	0	0	0	4072	797	28	4	578	4	CTSO	4	156860668	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	67661141	156860668	34293608	122	42223											
FSTL5	56884	broad.mit.edu	37	chr4	162841665	162841665	+	Silent	SNP	C	C	A																															aattctccgtcagatccacaCacaggtttgtagtgacgttt																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:162841665C>A	ENST00000306100.5	-	4	736	c.300G>T	c.(298-300)gtG>gtT	p.V100V	FSTL5_ENST00000536695.1_Silent_p.V99V|FSTL5_ENST00000427802.2_Silent_p.V99V|FSTL5_ENST00000379164.4_Silent_p.V99V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	100	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGATCCACACACAGGTTTGT	0.443													48	31					2.01872e-29	3.02807e-29	1	0	A	162841665	C	A	162841665	2	1	232	1	0	0	0	0	0	0	0	1	6128	465	17	4		4	FSTL5	4	162841665	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	5980997	162841665	28312611	123	42224	324	2									
FSTL5	56884	broad.mit.edu	37	chr4	162841675	162841675	+	Missense_Mutation	SNP	T	T	C																															cagatccacacacaggtttgTagtgacgtttgcaaaggtcc																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:162841675T>C	ENST00000306100.5	-	4	726	c.290A>G	c.(289-291)tAc>tGc	p.Y97C	FSTL5_ENST00000536695.1_Missense_Mutation_p.Y96C|FSTL5_ENST00000427802.2_Missense_Mutation_p.Y96C|FSTL5_ENST00000379164.4_Missense_Mutation_p.Y96C	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	97	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CACAGGTTTGTAGTGACGTTT	0.433													49	30					0	0	0	0	C	162841675	T	C	162841675	3	2	232	1	0	0	0	0	1	0	0	0	6128	1638	57	5	2305	5	FSTL5	4	162841675	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	10	162841675	28312601	124	42225	324	2									
ADCY2	108	broad.mit.edu	37	chr5	7706876	7706876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagtgagggatgctactGgagttgatatcaacatgcgc	12	9	14	6	1	1	2	1	2	0	0	1	5	1	5	0	3	4	2	0	3	4	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:7706876G>A	ENST00000338316.4	+	8	1218	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	ADCY2_ENST00000537121.1_Missense_Mutation_p.G197R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	377					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGATGCTACTGGAGTTGATAT	0.443													54	131					0	0	0	0	A	7706876	G	A	7706876	3	1	232	1	0	0	0	0	1	0	0	0	294	1349	47	4	1159	4	ADCY2	5	7706876	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08		7706876	173208384	125	42226											
ADCY2	108	broad.mit.edu	37	chr5	7757586	7757586	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaaaaaagcctctcccCtgctcatgtggcttttgaag	10	10	9	12	0	2	1	1	1	1	0	3	1	2	1	3	1	3	4	3	1	4	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:7757586C>G	ENST00000338316.4	+	16	2070	c.1981C>G	c.(1981-1983)Ctg>Gtg	p.L661V	ADCY2_ENST00000537121.1_Missense_Mutation_p.L481V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	661					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCCTCTCCCCTGCTCATGTG	0.473													57	184					0	0	0	0	G	7757586	C	G	7757586	3	3	232	1	0	0	0	0	1	0	0	0	294	680	24	4	2043	4	ADCY2	5	7757586	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	50710	7757586	173157674	126	42227											
DNAH5	1767	broad.mit.edu	37	chr5	13735314	13735314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctttagggtaagcaacaagGtgaacaggaatttgtgctcc	12	11	11	7	0	1	1	0	1	1	0	2	2	2	2	1	3	4	3	1	3	6	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:13735314G>A	ENST00000265104.4	-	68	11791	c.11687C>T	c.(11686-11688)aCc>aTc	p.T3896I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3896					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGCAACAAGGTGAACAGGAA	0.418									Kartagener syndrome				38	90					0	0	0	0	A	13735314	G	A	13735314	3	1	232	1	0	0	0	0	1	0	0	0	4641	1261	44	4	2235	4	DNAH5	5	13735314	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	5977728	13735314	167179946	127	42228											
DNAH5	1767	broad.mit.edu	37	chr5	13865914	13865914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaagatttagttgcttCtttatttcaagaagctgagg	11	16	10	4	0	2	4	1	1	1	3	2	4	2	4	0	1	2	4	0	1	6	8			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:13865914C>A	ENST00000265104.4	-	27	4322	c.4218G>T	c.(4216-4218)aaG>aaT	p.K1406N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1406	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K1406N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAGTTGCTTCTTTATTTCAA	0.343									Kartagener syndrome				40	75					1.96642e-18	2.62524e-18	1	0	A	13865914	C	A	13865914	3	1	232	1	0	0	0	0	1	0	0	0	4641	912	32	2	9868	2	DNAH5	5	13865914	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	130600	13865914	167049346	128	42229											
MARCH11	441061	broad.mit.edu	37	chr5	16067854	16067854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaaattcacagctcgcCagcgcttaaacactctgtaa	13	9	7	12	2	2	0	1	0	1	0	3	0	2	0	1	0	4	4	1	0	4	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:16067854C>A	ENST00000332432.8	-	4	1134	c.935G>T	c.(934-936)tGg>tTg	p.W312L		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	312						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CACAGCTCGCCAGCGCTTAAA	0.428													21	40					2.39187e-15	3.04526e-15	1	0	A	16067854	C	A	16067854	3	1	232	1	0	0	0	0	1	0	0	0	9369	595	21	4	277	4	MARCH11	5	16067854	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	2201940	16067854	164847406	129	42230											
DAB2	1601	broad.mit.edu	37	chr5	39377090	39377090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtggacacagcaggagctGgaaaaatattgctctgaaaa	16	7	12	6	0	1	1	0	1	1	0	1	5	1	4	0	3	3	3	0	3	5	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:39377090G>A	ENST00000320816.6	-	12	2266	c.1799C>T	c.(1798-1800)cCa>cTa	p.P600L	DAB2_ENST00000509337.1_Missense_Mutation_p.P579L|DAB2_ENST00000545653.1_Missense_Mutation_p.P579L|DAB2_ENST00000339788.6_Missense_Mutation_p.P382L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	600					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AGCAGGAGCTGGAAAAATATT	0.572											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	147					0	0	0	0	A	39377090	G	A	39377090	3	1	232	1	0	0	0	0	1	0	0	0	4251	1348	47	4	525	4	DAB2	5	39377090	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	23309236	39377090	141538170	130	42231											
DAB2	1601	broad.mit.edu	37	chr5	39381569	39381569	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacctacctagacccaccagGggccccactggggcaggagc	9	3	12	17	0	0	1	0	0	0	1	0	2	0	2	6	5	2	1	6	5	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:39381569G>T	ENST00000320816.6	-	11	1958	c.1491C>A	c.(1489-1491)ccC>ccA	p.P497P	DAB2_ENST00000509337.1_Silent_p.P476P|DAB2_ENST00000545653.1_Silent_p.P476P|DAB2_ENST00000339788.6_Silent_p.P279P	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	497					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GACCCACCAGGGGCCCCACTG	0.507													57	174					3.40165e-17	4.45029e-17	1	0	T	39381569	G	T	39381569	2	4	232	1	0	0	0	0	0	0	0	1	4251	1219	43	4		4	DAB2	5	39381569	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	4479	39381569	141533691	131	42232											
CARD6	84674	broad.mit.edu	37	chr5	40853333	40853333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgccctccaggaagtgatGttctcttcttgcctcagatg	6	13	10	12	0	3	2	1	1	2	1	5	3	4	3	3	1	2	2	3	1	1	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:40853333G>A	ENST00000254691.5	+	3	2098	c.1899G>A	c.(1897-1899)atG>atA	p.M633I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	633					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGGAAGTGATGTTCTCTTCTT	0.522													11	278					0	0	0	0	A	40853333	G	A	40853333	3	1	232	1	0	0	0	0	1	0	0	0	2675	1377	48	4	1909	4	CARD6	5	40853333	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1471764	40853333	140061927	132	42233											
PLCXD3	345557	broad.mit.edu	37	chr5	41382389	41382389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcattgactttggcactGaacaaaccatgagcaaaata	15	10	6	10	0	1	3	1	3	0	0	1	3	1	3	2	1	3	2	2	1	5	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:41382389G>T	ENST00000377801.3	-	2	425	c.351C>A	c.(349-351)ttC>ttA	p.F117L	PLCXD3_ENST00000328457.3_Missense_Mutation_p.F117L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	117	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTTTGGCACTGAACAAACCAT	0.448													57	116					3.89483e-19	5.32225e-19	1	0	T	41382389	G	T	41382389	3	4	232	1	0	0	0	0	1	0	0	0	12115	1281	45	2	622	2	PLCXD3	5	41382389	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	529056	41382389	139532871	133	42234											
IQGAP2	10788	broad.mit.edu	37	chr5	75936852	75936852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttcaagccacaagctcagGacccatccttagggaagagt	12	8	9	12	0	2	1	2	0	0	1	3	3	3	3	3	2	2	1	3	2	4	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:75936852G>T	ENST00000274364.6	+	17	2315	c.2018G>T	c.(2017-2019)gGa>gTa	p.G673V	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	673					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACAAGCTCAGGACCCATCCTT	0.423													26	52					1.17962e-10	1.40265e-10	1	0	T	75936852	G	T	75936852	3	4	232	1	0	0	0	0	1	0	0	0	7868	1174	41	2	2084	2	IQGAP2	5	75936852	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	34554463	75936852	104978408	134	42235											
PDE8B	8622	broad.mit.edu	37	chr5	76703252	76703252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtccatggcgaggatccaCtccatgaccatcgaggctcc	8	7	10	16	3	0	1	0	1	0	0	5	4	4	2	6	3	0	1	6	3	0	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:76703252C>A	ENST00000264917.5	+	13	1380	c.1335C>A	c.(1333-1335)caC>caA	p.H445Q	PDE8B_ENST00000346042.3_Missense_Mutation_p.H348Q|PDE8B_ENST00000342343.4_Missense_Mutation_p.H425Q|PDE8B_ENST00000333194.4_Missense_Mutation_p.H445Q|PDE8B_ENST00000340978.3_Missense_Mutation_p.H398Q	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	445					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CGAGGATCCACTCCATGACCA	0.582													23	67					3.73988e-18	4.95487e-18	1	0	A	76703252	C	A	76703252	3	1	232	1	0	0	0	0	1	0	0	0	11725	564	20	4	1385	4	PDE8B	5	76703252	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	766400	76703252	104212008	135	42236											
NR2F1	7025	broad.mit.edu	37	chr5	92929334	92929334	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcgcagtgcgcactggAggagtacgtgaggagccagt	10	6	17	8	3	0	1	0	1	0	0	1	5	0	4	1	3	3	3	1	3	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:92929334A>T	ENST00000327111.3	+	3	2745	c.1058A>T	c.(1057-1059)gAg>gTg	p.E353V	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	353					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGCGCACTGGAGGAGTACGTG	0.647													23	77					0	0	0	0	T	92929334	A	T	92929334	3	4	232	1	0	0	0	0	1	0	0	0	10698	304	11	5	1068	5	NR2F1	5	92929334	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	16226082	92929334	87985926	136	42237											
EFNA5	1946	broad.mit.edu	37	chr5	106763036	106763036	+	Missense_Mutation	SNP	C	C	A																															gagtgaggccggttacattcCcatctcttgaaccctttgga																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:106763036C>A	ENST00000333274.6	-	2	581	c.300G>T	c.(298-300)tgG>tgT	p.W100C	EFNA5_ENST00000509503.1_Missense_Mutation_p.W100C	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	100					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GGTTACATTCCCATCTCTTGA	0.493													28	81					3.73808e-20	5.21732e-20	1	0	A	106763036	C	A	106763036	3	1	232	1	0	0	0	0	1	0	0	0	4990	624	22	4	402	4	EFNA5	5	106763036	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	13833702	106763036	74152224	137	42238	325	2									
EFNA5	1946	broad.mit.edu	37	chr5	106763037	106763037	+	Missense_Mutation	SNP	C	C	A																															agtgaggccggttacattccCatctcttgaaccctttggaa																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:106763037C>A	ENST00000333274.6	-	2	580	c.299G>T	c.(298-300)tGg>tTg	p.W100L	EFNA5_ENST00000509503.1_Missense_Mutation_p.W100L	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	100					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GTTACATTCCCATCTCTTGAA	0.493													28	80					3.73808e-20	5.21732e-20	1	0	A	106763037	C	A	106763037	3	1	232	1	0	0	0	0	1	0	0	0	4990	595	21	4	403	4	EFNA5	5	106763037	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1	106763037	74152223	138	42239	325	2									
ANKHD1	54882	broad.mit.edu	37	chr5	139908268	139908268	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcataataacacaagccgtCtacctaaccagaacgggact	16	6	7	12	2	1	1	0	0	1	1	1	2	1	2	3	1	6	1	3	1	6	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:139908268C>T	ENST00000297183.6	+	29	5861	c.5737C>T	c.(5737-5739)Cta>Tta	p.L1913L	ANKHD1_ENST00000360839.2_Silent_p.L1913L|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.L1913L|ANKHD1_ENST00000544120.1_Silent_p.L296L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAAGCCGTCTACCTAACCA	0.488													28	48					0	0	0	0	T	139908268	C	T	139908268	2	4	232	1	0	0	0	0	0	0	0	1	628	912	32	2		2	ANKHD1	5	139908268	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	33145231	139908268	41006992	139	42240											
PCDHB6	56130	broad.mit.edu	37	chr5	140530659	140530659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttagatgcaggatcgtttgGgaaggtatcttacgccctgt	8	14	12	7	2	1	1	0	0	1	1	2	3	1	3	1	3	2	3	1	3	4	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140530659G>A	ENST00000231136.1	+	1	821	c.821G>A	c.(820-822)gGg>gAg	p.G274E	PCDHB6_ENST00000543635.1_Missense_Mutation_p.G138E	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		274	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATCGTTTGGGAAGGTATCT	0.473													19	54					0	0	0	0	A	140530659	G	A	140530659	3	1	232	1	0	0	0	0	1	0	0	0	11617	1232	43	4	823	4	PCDHB6	5	140530659	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	622391	140530659	40384601	140	42241											
PCDHB13	56123	broad.mit.edu	37	chr5	140595270	140595270	+	Missense_Mutation	SNP	G	G	T																															ctggactacgaggccctgcaGgggttccagttccgcgtggg																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140595270G>T	ENST00000341948.4	+	1	1762	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		525	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCCTGCAGGGGTTCCAGT	0.692													62	53					5.00936e-31	7.55747e-31	1	0	T	140595270	G	T	140595270	3	4	232	1	0	0	0	0	1	0	0	0	11609	991	35	4	1577	4	PCDHB13	5	140595270	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	64611	140595270	40319990	141	42242	326	2									
PCDHB13	56123	broad.mit.edu	37	chr5	140595271	140595271	+	Missense_Mutation	SNP	G	G	T																															tggactacgaggccctgcagGggttccagttccgcgtgggc																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140595271G>T	ENST00000341948.4	+	1	1763	c.1576G>T	c.(1576-1578)Ggg>Tgg	p.G526W		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCTGCAGGGGTTCCAGTT	0.692													63	50					2.165e-29	3.23819e-29	1	0	T	140595271	G	T	140595271	3	4	232	1	0	0	0	0	1	0	0	0	11609	1232	43	4	1578	4	PCDHB13	5	140595271	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1	140595271	40319989	142	42243	326	2									
PCDHGA7	56108	broad.mit.edu	37	chr5	140763189	140763189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaatgaccacacgcctgtCttctctctgcctcagtacca	8	11	7	15	1	4	2	1	2	3	0	5	2	4	2	4	0	2	1	4	0	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140763189C>T	ENST00000518325.1	+	1	723	c.723C>T	c.(721-723)gtC>gtT	p.V241V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGCCTGTCTTCTCTCTGC	0.587													11	27					0	0	0	0	T	140763189	C	T	140763189	2	4	232	1	0	0	0	0	0	0	0	1	11630	900	32	2		2	PCDHGA7	5	140763189	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	167918	140763189	40152071	143	42244											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802351	140802351	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgttctctatgccctacaAtccttcgactatgagcagtt	8	14	8	11	1	1	1	0	1	1	0	4	2	2	1	2	1	3	3	2	1	4	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140802351A>T	ENST00000398587.2	+	1	1590	c.1557A>T	c.(1555-1557)caA>caT	p.Q519H	PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.Q519H|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCCTACAATCCTTCGACT	0.542													43	126					0	0	0	0	T	140802351	A	T	140802351	3	4	232	1	0	0	0	0	1	0	0	0	11623	98	4	5	1559	5	PCDHGA11	5	140802351	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	39162	140802351	40112909	144	42245											
PCDHGC5	56097	broad.mit.edu	37	chr5	140868945	140868945	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gagccggggacgctggtgggGaatgttgctcaggatctggg	6	8	20	7	2	2	0	1	0	1	0	2	4	2	3	1	7	2	3	1	7	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140868945G>C	ENST00000252087.1	+	1	138	c.138G>C	c.(136-138)ggG>ggC	p.G46G	PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		46	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGGTGGGGAATGTTGCTC	0.572													16	65					0	0	0	0	C	140868945	G	C	140868945	2	2	232	1	0	0	0	0	0	0	0	1	11642	1161	41	2		2	PCDHGC5	5	140868945	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	66594	140868945	40046315	145	42246											
SH3TC2	79628	broad.mit.edu	37	chr5	148389880	148389880	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggcgggtcccattgaagaAcacatcacctgcttcttcat	9	11	9	12	1	3	2	2	1	1	1	4	2	4	2	2	2	2	1	2	2	2	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:148389880A>T	ENST00000538184.1	-	10	2809	c.1921T>A	c.(1921-1923)Ttc>Atc	p.F641I	SH3TC2_ENST00000515425.1_Missense_Mutation_p.F1094I|SH3TC2_ENST00000512049.1_Missense_Mutation_p.F1087I			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1094							binding			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)			CCATTGAAGAACACATCACCT	0.537													29	33					0	0	0	0	T	148389880	A	T	148389880	3	4	232	1	0	0	0	0	1	0	0	0	14350	43	2	5	602	5	SH3TC2	5	148389880	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	7520935	148389880	32525380	146	42247											
MYOZ3	91977	broad.mit.edu	37	chr5	150056389	150056389	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagacccagcttcaacagAgtggcccagggctgggtccg	8	6	13	14	1	2	2	2	0	0	2	3	2	3	2	3	3	2	2	3	3	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:150056389A>T	ENST00000297130.4	+	7	907	c.708A>T	c.(706-708)agA>agT	p.R236S	MYOZ3_ENST00000456566.2_3'UTR|MYOZ3_ENST00000520112.1_Missense_Mutation_p.S153C|MYOZ3_ENST00000517768.1_Missense_Mutation_p.R236S	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	236						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTCAACAGAGTGGCCCAGG	0.637													35	81					0	0	0	0	T	150056389	A	T	150056389	3	4	232	1	0	0	0	0	1	0	0	0	10167	301	11	5	730	5	MYOZ3	5	150056389	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	1666509	150056389	30858871	147	42248											
FAT2	2196	broad.mit.edu	37	chr5	150920141	150920141	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcacctgtgaacactgtGggctgttatcattgacgtcc	7	13	9	12	1	2	2	2	2	1	0	4	2	3	2	2	1	1	2	2	1	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:150920141G>C	ENST00000261800.5	-	10	9038	c.9026C>G	c.(9025-9027)cCa>cGa	p.P3009R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3009	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACACTGTGGGCTGTTATC	0.537													11	15					0	0	0	0	C	150920141	G	C	150920141	3	2	232	1	0	0	0	0	1	0	0	0	5735	1348	47	4	4079	4	FAT2	5	150920141	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	863752	150920141	29995119	148	42249											
KIF4B	285643	broad.mit.edu	37	chr5	154394078	154394078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccatctttacaatctccaTagagcaaagaaagaaaagtg	17	9	7	8	0	2	3	0	0	2	3	3	3	2	3	2	0	3	1	2	0	7	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:154394078T>C	ENST00000435029.4	+	1	819	c.659T>C	c.(658-660)aTa>aCa	p.I220T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	220	Kinesin-motor.			I -> L (in Ref. 1; AF241316).	axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAATCTCCATAGAGCAAAGA	0.468													39	83					0	0	0	0	C	154394078	T	C	154394078	3	2	232	1	0	0	0	0	1	0	0	0	8355	1406	49	5	661	5	KIF4B	5	154394078	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	3473937	154394078	26521182	149	42250											
SLIT3	6586	broad.mit.edu	37	chr5	168244400	168244400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactggccaactgtccgtCgctgtcgcagccaatccgag	8	8	11	14	4	0	1	0	1	0	0	4	2	2	1	4	1	3	2	4	1	3	0	rs151091745		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:168244400C>A	ENST00000519560.1	-	8	1117	c.698G>T	c.(697-699)cGa>cTa	p.R233L	SLIT3_ENST00000332966.8_Missense_Mutation_p.R233L|SLIT3_ENST00000404867.3_Missense_Mutation_p.R233L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	233	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACTGTCCGTCGCTGTCGCAG	0.617													9	40					1.05317e-09	1.23263e-09	1	0	A	168244400	C	A	168244400	3	1	232	1	0	0	0	0	1	0	0	0	14829	884	31	3	3989	3	SLIT3	5	168244400	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	13850322	168244400	12670860	150	42251											
NSD1	64324	broad.mit.edu	37	chr5	176700778	176700779	+	Frame_Shift_Del	DEL	AT	AT	-																															gaagccaccaccttataaacAtataaaggtgaggagaaaat																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:176700778_176700779delAT	ENST00000439151.2	+	17	5660_5661	c.5615_5616delAT	c.(5614-5616)cfs	p.H1872fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.H1769fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.H1603fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.H1603fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1872					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTTATAAACATATAAAGGTGA	0.45			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			21	25	---	---	---	---					-	176700779	AT	-	176700778	7	5	232	1	0	1	0	1	0	0	0	0	10740	217	8	0	5677	0	NSD1	5	176700778	Frame_Shift_Del	DEL	AT	TCGA-CV-5441-01A-01D-1512-08	8456378	176700778	4214482	151	42252											
HIST1H3J	8356	broad.mit.edu	37	chr6	27858380	27858380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctgaaatggcagtttgCggatgagcagctcagtcgac	9	8	15	9	3	1	2	1	2	0	0	2	4	1	3	0	3	3	5	0	3	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:27858380C>T	ENST00000359303.2	-	1	190	c.191G>A	c.(190-192)cGc>cAc	p.R64H		NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	64					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						TGGCAGTTTGCGGATGAGCAG	0.607													6	96					0	0	0	0	T	27858380	C	T	27858380	3	4	232	1	0	0	0	0	1	0	0	0	7214	768	27	1	223	1	HIST1H3J	6	27858380	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08		27858380	143256687	152	42253											
OR2B6	26212	broad.mit.edu	37	chr6	27925796	27925796	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagccgtctctgtgtacCtgcaaccaccttcgcccagc	7	9	8	17	2	1	0	0	0	1	0	3	0	1	0	5	0	6	3	5	0	3	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:27925796C>T	ENST00000244623.1	+	1	778	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTGTGTACCTGCAACCACC	0.453													112	61					0	0	0	0	T	27925796	C	T	27925796	2	4	232	1	0	0	0	0	0	0	0	1	11062	680	24	4		4	OR2B6	6	27925796	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	67416	27925796	143189271	153	42254											
HLA-F	3134	broad.mit.edu	37	chr6	29691698	29691698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgccgctacaaccagagcGaggctggtgagtgaacccgg	9	5	14	13	4	0	3	0	2	0	1	1	4	1	3	4	3	4	2	4	3	3	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:29691698G>A	ENST00000376861.1	+	3	712	c.328G>A	c.(328-330)Gag>Aag	p.E110K	HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000434407.2_Missense_Mutation_p.E110K|HLA-F_ENST00000259951.7_Missense_Mutation_p.E110K|HLA-F_ENST00000334668.4_Missense_Mutation_p.E110K			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	110	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	p.E110K(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CAACCAGAGCGAGGCTGGTGA	0.677													8	0					0	0	0	0	A	29691698	G	A	29691698	3	1	232	1	0	0	0	0	1	0	0	0	7261	1059	37	1	334	1	HLA-F	6	29691698	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1765902	29691698	141423369	154	42255											
TAP2	6891	broad.mit.edu	37	chr6	32782378	32782378	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgtcacctctggttgcActaggaagggaggaaaaatg	13	8	12	8	0	2	0	1	0	1	0	2	3	2	3	1	4	1	2	1	4	4	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:32782378A>T	ENST00000452392.2	-	14	2356	c.2182_splice	c.e14-1	p.V728_splice	HLA-DOB_ENST00000438763.2_Splice_Site_p.V121_splice			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										CTCTGGTTGCACTAGGAAGGG	0.493													117	74					0	0	0	0	T	32782378	A	T	32782378	5	4	232	1	0	0	0	0	0	0	1	0	15642	173	6	5		5	TAP2	6	32782378	Splice_Site	SNP	A	TCGA-CV-5441-01A-01D-1512-08	3090680	32782378	138332689	155	42256											
WDR46	9277	broad.mit.edu	37	chr6	33254975	33254975	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcttccccactgacacaTccaggtaggttagaaaccct	12	9	6	14	0	1	2	0	1	1	1	3	2	3	2	4	2	1	2	4	2	4	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:33254975T>C	ENST00000374617.4	-	9	1264	c.908A>G	c.(907-909)gAt>gGt	p.D303G		NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	303										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CACTGACACATCCAGGTAGGT	0.517													120	61					0	0	0	0	C	33254975	T	C	33254975	3	2	232	1	0	0	0	0	1	0	0	0	17395	1435	50	5	952	5	WDR46	6	33254975	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	472597	33254975	137860092	156	42257											
MAPK13	5603	broad.mit.edu	37	chr6	36104684	36104684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgtgggctgtatcatGgcagagatgctgacagggaa	9	10	16	6	0	2	2	1	1	1	1	2	4	2	3	0	4	1	4	0	4	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:36104684G>T	ENST00000211287.4	+	8	901	c.639G>T	c.(637-639)atG>atT	p.M213I	MAPK13_ENST00000373766.5_Intron|MAPK13_ENST00000373759.1_Intron|MAPK13_ENST00000373761.6_Missense_Mutation_p.M203I	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	213	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						GCTGTATCATGGCAGAGATGC	0.527													45	38					5.34276e-22	7.68297e-22	1	0	T	36104684	G	T	36104684	3	4	232	1	0	0	0	0	1	0	0	0	9344	1348	47	4	669	4	MAPK13	6	36104684	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2849709	36104684	135010383	157	42258											
DNAH8	1769	broad.mit.edu	37	chr6	38877379	38877379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggttcagccgctggccaaGggaggctctgattgctgtgg	5	10	16	10	1	2	1	1	1	1	0	2	2	2	2	2	5	2	4	2	5	1	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:38877379G>T	ENST00000359357.3	+	63	9202	c.8948G>T	c.(8947-8949)aGg>aTg	p.R2983M	DNAH8_ENST00000441566.1_Missense_Mutation_p.R2947M|DNAH8_ENST00000449981.2_Missense_Mutation_p.R3200M					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGCTGGCCAAGGGAGGCTCTG	0.448													63	49					3.82636e-28	5.69049e-28	1	0	T	38877379	G	T	38877379	3	4	232	1	0	0	0	0	1	0	0	0	4643	1000	35	4	9190	4	DNAH8	6	38877379	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2772695	38877379	132237688	158	42259											
CDC5L	988	broad.mit.edu	37	chr6	44392275	44392275	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagaacgtgaaatagaTgatacttacattgaagatgc	16	10	10	5	1	0	6	0	3	0	3	0	7	0	7	0	1	4	0	0	1	7	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:44392275T>A	ENST00000371477.3	+	11	1823	c.1524T>A	c.(1522-1524)gaT>gaA	p.D508E		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	508	Interaction with DAPK3 (By similarity).|Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTGAAATAGATGATACTTACA	0.453													4	73					0	0	0	0	A	44392275	T	A	44392275	3	1	232	1	0	0	0	0	1	0	0	0	3111	1461	51	5	1566	5	CDC5L	6	44392275	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	5514896	44392275	126722792	159	42260											
RUNX2	860	broad.mit.edu	37	chr6	45405777	45405777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttacagtagatggacctcGggaacccagaagtaagtact	14	8	11	8	1	0	2	0	0	0	2	1	4	0	4	2	2	3	4	2	2	6	4	rs104893991		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:45405777G>T	ENST00000371438.1	+	4	1032	c.674G>T	c.(673-675)cGg>cTg	p.R225L	RUNX2_ENST00000352853.5_Missense_Mutation_p.R293L|RUNX2_ENST00000465038.2_Missense_Mutation_p.R225L|RUNX2_ENST00000371436.6_Missense_Mutation_p.R225L|RUNX2_ENST00000576263.1_Missense_Mutation_p.R225L|RUNX2_ENST00000359524.5_Missense_Mutation_p.R211L|RUNX2_ENST00000541979.1_Missense_Mutation_p.R293L|RUNX2_ENST00000371432.3_Missense_Mutation_p.R211L	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	225	Runt.		R -> L (in CLCD).|R -> Q (in CLCD; interferes with nuclear localization; abolishes DNA binding).|R -> W (in CLCD; interferes with nuclear localization; has severely impaired DNA binding and transactivation).		negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R225L(1)|p.R293L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GATGGACCTCGGGAACCCAGA	0.413													116	78					7.81258e-50	1.28244e-49	1	0	T	45405777	G	T	45405777	3	4	232	1	0	0	0	0	1	0	0	0	13833	1116	39	3	704	3	RUNX2	6	45405777	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1013502	45405777	125709290	160	42261											
FAM83B	222584	broad.mit.edu	37	chr6	54806055	54806055	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaaagaaggaagttaaGggttccccaagttttttgaa	13	12	10	6	0	1	2	1	1	0	1	2	3	2	3	2	2	0	4	2	2	6	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:54806055G>A	ENST00000306858.7	+	5	2402	c.2286G>A	c.(2284-2286)aaG>aaA	p.K762K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	762										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGGAAGTTAAGGGTTCCCCAA	0.378													34	102					0	0	0	0	A	54806055	G	A	54806055	2	1	232	1	0	0	0	0	0	0	0	1	5680	991	35	4		4	FAM83B	6	54806055	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	9400278	54806055	116309012	161	42262											
FILIP1	27145	broad.mit.edu	37	chr6	76124636	76124636	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgatggagggcttgggaCaggagatatgcccatcagat	11	8	15	7	1	1	3	1	1	0	2	1	7	1	5	1	4	1	1	1	4	1	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:76124636C>A	ENST00000393004.2	-	2	274	c.53G>T	c.(52-54)tGt>tTt	p.C18F	FILIP1_ENST00000237172.7_Missense_Mutation_p.C18F			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	18										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GGGCTTGGGACAGGAGATATG	0.423													62	78					1.08141e-31	1.64097e-31	1	0	A	76124636	C	A	76124636	3	1	232	1	0	0	0	0	1	0	0	0	5939	478	17	4	3608	4	FILIP1	6	76124636	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	21318581	76124636	94990431	162	42263											
PHIP	55023	broad.mit.edu	37	chr6	79770397	79770397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcatacttttatttgtgcGtagtaaagactgtcttccag	9	18	7	7	1	2	1	1	0	1	1	3	1	3	1	1	0	2	2	1	0	5	8			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:79770397G>T	ENST00000275034.4	-	5	495	c.328C>A	c.(328-330)Cgc>Agc	p.R110S		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	110					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTATTTGTGCGTAGTAAAGAC	0.318													33	38					1.74807e-11	2.12702e-11	1	0	T	79770397	G	T	79770397	3	4	232	1	0	0	0	0	1	0	0	0	11914	1145	40	3	5281	3	PHIP	6	79770397	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	3645761	79770397	91344670	163	42264											
CNR1	1268	broad.mit.edu	37	chr6	88854007	88854007	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggcttggtctggccgggtCacctgtaccttcccatcctc	3	11	11	16	2	2	0	1	0	1	0	5	0	4	0	5	4	1	2	5	4	1	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:88854007C>T	ENST00000537554.1	-	2	4549	c.987G>A	c.(985-987)gtG>gtA	p.V329V	CNR1_ENST00000468898.1_Silent_p.V296V|CNR1_ENST00000428600.2_Silent_p.V329V|CNR1_ENST00000549890.1_Silent_p.V329V|CNR1_ENST00000369499.2_Silent_p.V329V|CNR1_ENST00000535130.1_Silent_p.V329V|CNR1_ENST00000369501.2_Silent_p.V329V|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Silent_p.V268V	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	329					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CTGGCCGGGTCACCTGTACCT	0.567													53	68					0	0	0	0	T	88854007	C	T	88854007	2	4	232	1	0	0	0	0	0	0	0	1	3661	813	29	2		2	CNR1	6	88854007	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	9083610	88854007	82261060	164	42265											
DCBLD1	285761	broad.mit.edu	37	chr6	117825024	117825024	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaatcacactgtttgcgaAaagacaattacagtaccaaa	17	8	5	11	1	1	1	1	0	0	1	1	2	1	1	2	0	3	2	2	0	7	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:117825024A>G	ENST00000338728.5	+	2	327	c.207A>G	c.(205-207)gaA>gaG	p.E69E	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Silent_p.E69E|DCBLD1_ENST00000368503.4_Silent_p.E69E			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	69	CUB.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CTGTTTGCGAAAAGACAATTA	0.453													42	235					0	0	0	0	G	117825024	A	G	117825024	2	3	232	1	0	0	0	0	0	0	0	1	4312	11	1	5		5	DCBLD1	6	117825024	Silent	SNP	A	TCGA-CV-5441-01A-01D-1512-08	28971017	117825024	53290043	165	42266											
SLC35F1	222553	broad.mit.edu	37	chr6	118635271	118635271	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccacctccacctacatagcCcaggacccccgagtgtataa	11	7	6	17	1	0	0	0	0	0	0	2	2	2	1	7	1	2	1	7	1	4	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:118635271C>A	ENST00000360388.4	+	8	1284	c.1083C>A	c.(1081-1083)gcC>gcA	p.A361A		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	361					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCTACATAGCCCAGGACCCCC	0.507													48	262					6.3008e-33	9.70212e-33	1	0	A	118635271	C	A	118635271	2	1	232	1	0	0	0	0	0	0	0	1	14676	610	22	4		4	SLC35F1	6	118635271	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	810247	118635271	52479796	166	42267											
HDDC2	51020	broad.mit.edu	37	chr6	125614026	125614026	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctttctgaggtcctctggTaggagctgggttatctgctt	4	16	12	9	0	3	1	0	1	3	0	5	2	5	2	2	4	2	4	2	4	2	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:125614026T>A	ENST00000398153.1	-	4	542	c.339A>T	c.(337-339)ctA>ctT	p.L113L	HDDC2_ENST00000368377.4_Silent_p.L79L	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	113	HD.						metal ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GGTCCTCTGGTAGGAGCTGGG	0.353													170	136					0	0	0	0	A	125614026	T	A	125614026	2	1	232	1	0	0	0	0	0	0	0	1	7066	1625	57	5		5	HDDC2	6	125614026	Silent	SNP	T	TCGA-CV-5441-01A-01D-1512-08	6978755	125614026	45501041	167	42268											
NCOA7	135112	broad.mit.edu	37	chr6	126210575	126210575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaataaacaattctgccGtggaaatgcaggtgcagtca	15	8	9	9	1	2	0	1	0	1	0	2	1	2	1	1	2	4	2	1	2	5	2	rs138843029		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:126210575G>T	ENST00000368357.3	+	10	1727	c.1375G>T	c.(1375-1377)Gtg>Ttg	p.V459L	NCOA7_ENST00000392477.2_Missense_Mutation_p.V459L|NCOA7_ENST00000229634.9_Missense_Mutation_p.V344L	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	459					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CAATTCTGCCGTGGAAATGCA	0.453													41	162					1.7489e-18	2.34084e-18	1	0	T	126210575	G	T	126210575	3	4	232	1	0	0	0	0	1	0	0	0	10304	1145	40	3	1405	3	NCOA7	6	126210575	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	596549	126210575	44904492	168	42269											
SAMD3	154075	broad.mit.edu	37	chr6	130497054	130497054	+	Frame_Shift_Del	DEL	G	G	-																															tttccttgtctggcctcttcGgtgtccaaatttacacttat																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:130497054delG	ENST00000532763.1	-	7	877	c.748delC	c.(748-750)gafs	p.R251fs	SAMD3_ENST00000457563.2_Frame_Shift_Del_p.R277fs|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Frame_Shift_Del_p.R253fs|SAMD3_ENST00000437477.2_Frame_Shift_Del_p.R253fs|SAMD3_ENST00000368134.2_Frame_Shift_Del_p.R253fs			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	253										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGGCCTCTTCGGTGTCCAAAT	0.348													53	246	---	---	---	---					-	130497054	G	-	130497054	7	5	232	1	0	1	0	1	0	0	0	0	13905	1124	39	0	828	0	SAMD3	6	130497054	Frame_Shift_Del	DEL	G	TCGA-CV-5441-01A-01D-1512-08	4286479	130497054	40618013	169	42270											
MED23	9439	broad.mit.edu	37	chr6	131946091	131946091	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggactatgctgaccatgaatAaacttaacaatccactggat	15	10	7	9	0	0	2	0	2	0	0	1	4	1	4	2	2	3	1	2	2	6	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:131946091A>G	ENST00000403834.3	-	4	371	c.198T>C	c.(196-198)ttT>ttC	p.F66F	MED23_ENST00000368058.1_Silent_p.F66F|MED23_ENST00000354577.4_Silent_p.F66F|MED23_ENST00000540546.1_Silent_p.F66F|MED23_ENST00000539158.1_Silent_p.F66F|MED23_ENST00000368053.4_Silent_p.F66F|MED23_ENST00000368068.3_Silent_p.F66F|MED23_ENST00000368060.3_Silent_p.F66F			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	66					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GACCATGAATAAACTTAACAA	0.378													39	190					0	0	0	0	G	131946091	A	G	131946091	2	3	232	1	0	0	0	0	0	0	0	1	9510	359	13	5		5	MED23	6	131946091	Silent	SNP	A	TCGA-CV-5441-01A-01D-1512-08	1449037	131946091	39168976	170	42271											
MOXD1	26002	broad.mit.edu	37	chr6	132713397	132713397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccctgctgctgaagacaCttcgcatcacaggcctcagt	9	10	8	14	1	2	2	2	1	0	1	3	2	2	2	2	1	3	3	2	1	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:132713397C>A	ENST00000392401.3	-	2	354	c.306G>T	c.(304-306)aaG>aaT	p.K102N	MOXD1_ENST00000367963.3_Intron			Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	0	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCTGAAGACACTTCGCATCAC	0.448													9	19					0.000274275	0.000288652	1	0	A	132713397	C	A	132713397	3	1	232	1	0	0	0	0	1	0	0	0	9790	580	20	4		4	MOXD1	6	132713397	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	767306	132713397	38401670	171	42272											
UTRN	7402	broad.mit.edu	37	chr6	144779941	144779941	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagaaataaaaaatgttctgGagaaggtttcatcagaatgg	18	10	10	3	0	3	3	2	0	1	3	3	4	3	3	0	3	0	2	0	3	7	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:144779941G>T	ENST00000367545.3	+	19	2320	c.2320G>T	c.(2320-2322)Gag>Tag	p.E774*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	774	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAATGTTCTGGAGAAGGTTTC	0.328													123	110					1.00425e-38	1.60312e-38	1	0	T	144779941	G	T	144779941	4	4	232	1	0	0	0	0	0	1	0	0	17199	1175	41	2	2394	2	UTRN	6	144779941	Nonsense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	12066544	144779941	26335126	172	42273											
SYNE1	23345	broad.mit.edu	37	chr6	152469434	152469434	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtctgcagagcggtcgTgccagtgcaggtccgacaga	7	7	16	11	3	1	2	0	0	1	2	3	3	2	2	2	3	4	3	2	3	0	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152469434T>A	ENST00000367255.5	-	137	25323	c.24722A>T	c.(24721-24723)cAc>cTc	p.H8241L	SYNE1_ENST00000265368.4_Missense_Mutation_p.H8241L|SYNE1_ENST00000539504.1_Missense_Mutation_p.H396L|SYNE1_ENST00000341594.5_Missense_Mutation_p.H7853L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.H8170L|SYNE1_ENST00000423061.1_Missense_Mutation_p.H8170L|SYNE1_ENST00000356820.4_Missense_Mutation_p.H2765L|SYNE1_ENST00000354674.4_Missense_Mutation_p.H396L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8241					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAGCGGTCGTGCCAGTGCAG	0.617										HNSCC(10;0.0054)			32	75					0	0	0	0	A	152469434	T	A	152469434	3	1	232	1	0	0	0	0	1	0	0	0	15536	1696	59	5	1784	5	SYNE1	6	152469434	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	7689493	152469434	18645633	173	42274											
SYNE1	23345	broad.mit.edu	37	chr6	152623106	152623106	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggtcaccgtcagcagcatGgtggcgtgcttggctttcat	5	12	13	11	3	3	0	3	0	0	0	4	0	3	0	1	4	3	4	1	4	0	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152623106G>A	ENST00000367255.5	-	92	18040	c.17439C>T	c.(17437-17439)acC>acT	p.T5813T	SYNE1_ENST00000265368.4_Silent_p.T5813T|SYNE1_ENST00000341594.5_Silent_p.T5425T|SYNE1_ENST00000448038.1_Silent_p.T5742T|SYNE1_ENST00000423061.1_Silent_p.T5742T|SYNE1_ENST00000356820.4_Silent_p.T337T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5813					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCAGCAGCATGGTGGCGTGCT	0.597										HNSCC(10;0.0054)			28	110					0	0	0	0	A	152623106	G	A	152623106	2	1	232	1	0	0	0	0	0	0	0	1	15536	1335	47	4		4	SYNE1	6	152623106	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	153672	152623106	18491961	174	42275											
SYNE1	23345	broad.mit.edu	37	chr6	152665308	152665308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcctggcactgctgcaGggtgtcttgtcggctgacgt	4	10	15	12	2	1	1	0	1	1	0	2	1	1	1	2	4	2	4	2	4	0	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152665308G>T	ENST00000367255.5	-	74	12734	c.12133C>A	c.(12133-12135)Ctg>Atg	p.L4045M	SYNE1_ENST00000265368.4_Missense_Mutation_p.L4045M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L3910M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L3974M|SYNE1_ENST00000423061.1_Missense_Mutation_p.L3974M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4045					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACTGCTGCAGGGTGTCTTGT	0.493										HNSCC(10;0.0054)			111	84					1.472e-32	2.25995e-32	1	0	T	152665308	G	T	152665308	3	4	232	1	0	0	0	0	1	0	0	0	15536	991	35	4	14625	4	SYNE1	6	152665308	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	42202	152665308	18449759	175	42276											
SYNE1	23345	broad.mit.edu	37	chr6	152673332	152673332	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatgtgttctttccggaCagtgctggtcagttccttca	5	15	10	11	2	4	0	3	0	1	0	6	1	6	1	2	2	1	3	2	2	0	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152673332C>G	ENST00000367255.5	-	70	12011	c.11410G>C	c.(11410-11412)Gtc>Ctc	p.V3804L	SYNE1_ENST00000265368.4_Missense_Mutation_p.V3804L|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3775L|SYNE1_ENST00000448038.1_Missense_Mutation_p.V3789L|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3789L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3804					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTTCCGGACAGTGCTGGTC	0.453										HNSCC(10;0.0054)			204	184					0	0	0	0	G	152673332	C	G	152673332	3	3	232	1	0	0	0	0	1	0	0	0	15536	478	17	4	15364	4	SYNE1	6	152673332	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	8024	152673332	18441735	176	42277											
SYNE1	23345	broad.mit.edu	37	chr6	152757237	152757237	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccgtttagaaaactcCtagaaaaaatattatgatca	16	13	5	7	1	2	3	1	1	1	2	4	3	4	3	2	0	1	1	2	0	9	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152757237C>A	ENST00000367255.5	-	33	4751		c.e33-1		SYNE1_ENST00000367253.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000367248.3_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000413186.2_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAGAAAACTCCTAGAAAAAAT	0.398										HNSCC(10;0.0054)			88	65					1.67174e-50	2.75284e-50	1	0	A	152757237	C	A	152757237	5	1	232	1	0	0	0	0	0	0	1	0	15536	695	24	4	22773	4	SYNE1	6	152757237	Splice_Site	SNP	C	TCGA-CV-5441-01A-01D-1512-08	83905	152757237	18357830	177	42278											
ARID1B	57492	broad.mit.edu	37	chr6	157469762	157469762	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgctttttgtttaggtaaCtactccagacccccagcgta	8	15	7	11	1	0	1	0	0	0	1	1	1	1	1	3	1	4	4	3	1	4	8			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:157469762C>G	ENST00000346085.5	+	9	2557	c.2556C>G	c.(2554-2556)aaC>aaG	p.N852K	ARID1B_ENST00000350026.5_Missense_Mutation_p.N839K|ARID1B_ENST00000367148.1_Missense_Mutation_p.N839K|ARID1B_ENST00000275248.4_Missense_Mutation_p.N781K	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	839					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTTTAGGTAACTACTCCAGAC	0.473													53	286					0	0	0	0	G	157469762	C	G	157469762	3	3	232	1	0	0	0	0	1	0	0	0	916	564	20	4	2590	4	ARID1B	6	157469762	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	4712525	157469762	13645305	178	42279											
ARID1B	57492	broad.mit.edu	37	chr6	157470017	157470018	+	Frame_Shift_Del	DEL	TG	TG	-																															atggggccgccaatgccaacTgtgaaccgtaaggcacagga																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:157470017_157470018delTG	ENST00000346085.5	+	9	2812_2813	c.2811_2812delTG	c.(2809-2814)actgfs	p.TV937fs	ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.TV924fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.TV866fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.TV924fs	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	924					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAATGCCAACTGTGAACCGTAA	0.604													47	43	---	---	---	---					-	157470018	TG	-	157470017	7	5	232	1	0	1	0	1	0	0	0	0	916	1567	55	0	2845	0	ARID1B	6	157470017	Frame_Shift_Del	DEL	TG	TCGA-CV-5441-01A-01D-1512-08	255	157470017	13645050	179	42280											
THSD7A	221981	broad.mit.edu	37	chr7	11675973	11675973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgcttgtcttacttgtCgggagtggggcattgagcag	5	14	14	8	1	1	1	0	1	1	0	3	2	2	2	1	3	3	3	1	3	1	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:11675973C>A	ENST00000423059.3	-	2	1057	c.806G>T	c.(805-807)cGa>cTa	p.R269L		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	269						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTTACTTGTCGGGAGTGGGG	0.557										HNSCC(18;0.044)			52	104					2.73381e-35	4.25984e-35	1	0	A	11675973	C	A	11675973	3	1	232	1	0	0	0	0	1	0	0	0	15973	884	31	3	4271	3	THSD7A	7	11675973	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08		11675973	147462690	180	42281											
ITGB8	3696	broad.mit.edu	37	chr7	20449331	20449331	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagtcctgatcattagacAggtgatactacaatggaata	16	11	8	6	0	1	3	1	2	0	1	2	4	2	4	1	2	2	0	1	2	8	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:20449331A>T	ENST00000222573.3	+	13	2801	c.2117A>T	c.(2116-2118)cAg>cTg	p.Q706L	ITGB8_ENST00000537992.1_Missense_Mutation_p.Q571L	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	706					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ATCATTAGACAGGTGATACTA	0.338													57	127					0	0	0	0	T	20449331	A	T	20449331	3	4	232	1	0	0	0	0	1	0	0	0	7954	188	7	5	2167	5	ITGB8	7	20449331	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	8773358	20449331	138689332	181	42282											
KLHL7	55975	broad.mit.edu	37	chr7	23205333	23205333	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggattatagctggacagAcatccgctgcccctttgaaa	12	9	9	11	1	0	2	0	1	0	1	1	4	1	4	3	2	2	2	3	2	3	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:23205333A>G	ENST00000322231.7	+	9	1377	c.887A>G	c.(886-888)gAc>gGc	p.D296G	KLHL7_ENST00000339077.4_Missense_Mutation_p.D318G|KLHL7_ENST00000545443.1_Missense_Mutation_p.D296G|KLHL7_ENST00000539124.1_Missense_Mutation_p.D242G|KLHL7_ENST00000409689.1_Missense_Mutation_p.D270G|KLHL7_ENST00000542558.1_Missense_Mutation_p.D93G			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	318						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCTGGACAGACATCCGCTGC	0.403													26	52					0	0	0	0	G	23205333	A	G	23205333	3	3	232	1	0	0	0	0	1	0	0	0	8446	275	10	5	1046	5	KLHL7	7	23205333	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	2756002	23205333	135933330	182	42283											
ANLN	54443	broad.mit.edu	37	chr7	36478884	36478884	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtgaattccagtgttgaAgaaagaggttttctagtaag	14	12	11	4	0	1	4	0	2	1	2	2	4	2	4	1	1	0	3	1	1	6	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:36478884A>T	ENST00000265748.2	+	21	3176	c.2955A>T	c.(2953-2955)gaA>gaT	p.E985D	ANLN_ENST00000396068.2_Missense_Mutation_p.E948D	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	985	Localization to the cleavage furrow.|PH.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CCAGTGTTGAAGAAAGAGGTT	0.308													16	28					0	0	0	0	T	36478884	A	T	36478884	3	4	232	1	0	0	0	0	1	0	0	0	693	69	3	5	3037	5	ANLN	7	36478884	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	13273551	36478884	122659779	183	42284											
AMPH	273	broad.mit.edu	37	chr7	38505100	38505100	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatggtgaaggccttgtcgGcgtgctggtcacccagtttt	5	12	15	9	2	1	1	1	1	0	0	2	2	1	2	2	5	1	2	2	5	1	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:38505100G>C	ENST00000356264.2	-	9	931	c.716C>G	c.(715-717)gCc>gGc	p.A239G	AMPH_ENST00000428293.2_Missense_Mutation_p.A239G|AMPH_ENST00000325590.5_Missense_Mutation_p.A239G	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	239	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGCCTTGTCGGCGTGCTGGTC	0.507													7	5					0	0	0	0	C	38505100	G	C	38505100	3	2	232	1	0	0	0	0	1	0	0	0	588	1203	42	4	1423	4	AMPH	7	38505100	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2026216	38505100	120633563	184	42285											
HECW1	23072	broad.mit.edu	37	chr7	43400528	43400528	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tactaccatggagtgagtggGgccctgcgagcaaccacccc	9	6	12	14	1	0	1	0	1	0	0	0	3	0	2	5	3	5	1	5	3	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:43400528G>T	ENST00000395891.1	+	6	1109	c.504G>T	c.(502-504)ggG>ggT	p.G168G	HECW1_ENST00000453890.1_Silent_p.G168G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	168					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAGTGAGTGGGGCCCTGCGAG	0.478													28	91					5.45727e-16	7.01649e-16	1	0	T	43400528	G	T	43400528	2	4	232	1	0	0	0	0	0	0	0	1	7092	1219	43	4		4	HECW1	7	43400528	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	4895428	43400528	115738135	185	42286											
POM121L12	285877	broad.mit.edu	37	chr7	53103940	53103940	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaagggaagcgctaggttCgacgggccgttgtggttcga	7	8	16	10	5	0	0	0	0	0	0	2	3	0	1	2	4	1	4	2	4	3	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:53103940C>T	ENST00000408890.4	+	1	592	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	192										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGCTAGGTTCGACGGGCCGT	0.701													25	63					0	0	0	0	T	53103940	C	T	53103940	2	4	232	1	0	0	0	0	0	0	0	1	12313	883	31	1		1	POM121L12	7	53103940	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	9703412	53103940	106034723	186	42287											
CACNA2D1	781	broad.mit.edu	37	chr7	81693671	81693671	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagctccttggatgtacCtgaaacaaatattgtaataa	15	12	7	7	0	0	1	0	1	0	0	1	2	1	2	2	1	4	4	2	1	6	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:81693671C>G	ENST00000356860.3	-	9	1067		c.e9-1		CACNA2D1_ENST00000423588.1_Splice_Site|CACNA2D1_ENST00000356253.5_Splice_Site	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1							voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTGGATGTACCTGAAACAAAT	0.323													24	63					0	0	0	0	G	81693671	C	G	81693671	5	3	232	1	0	0	0	0	0	0	1	0	2573	695	24	4	2671	4	CACNA2D1	7	81693671	Splice_Site	SNP	C	TCGA-CV-5441-01A-01D-1512-08	28589731	81693671	77444992	187	42288											
PCLO	27445	broad.mit.edu	37	chr7	82457236	82457236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactgtttgattccactcagGattaagacttttctggacat	10	16	7	8	0	2	2	1	1	1	1	3	4	3	4	1	2	1	1	1	2	2	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:82457236G>T	ENST00000423517.2	-	17	14633	c.14296C>A	c.(14296-14298)Cct>Act	p.P4766T	PCLO_ENST00000333891.8_Missense_Mutation_p.P4766T|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4628					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCCACTCAGGATTAAGACTT	0.333													6	22					0.248553	0.249989	1	0	T	82457236	G	T	82457236	3	4	232	1	0	0	0	0	1	0	0	0	11654	1174	41	2	1185	2	PCLO	7	82457236	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	763565	82457236	76681427	188	42289											
DLX5	1749	broad.mit.edu	37	chr7	96650315	96650315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggactgtgctccgggggCatctccccgtttttcatgat	4	13	12	12	2	2	1	1	1	1	0	4	2	3	2	3	3	1	3	3	3	0	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:96650315C>T	ENST00000222598.4	-	3	1076	c.603G>A	c.(601-603)atG>atA	p.M201I	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	201					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GCTCCGGGGGCATCTCCCCGT	0.577													23	63					0	0	0	0	T	96650315	C	T	96650315	3	4	232	1	0	0	0	0	1	0	0	0	4611	710	25	4	270	4	DLX5	7	96650315	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	14193079	96650315	62488348	189	42290											
GIGYF1	64599	broad.mit.edu	37	chr7	100280797	100280797	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagctgggtgcggggggCacagggaccgcctgctgctg	4	5	22	10	2	0	0	0	0	0	0	0	2	0	2	2	7	4	4	2	7	0	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:100280797C>G	ENST00000275732.5	-	19	3459	c.2250G>C	c.(2248-2250)gtG>gtC	p.V750V		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	750										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTGCGGGGGGCACAGGGACCG	0.677													8	18					0	0	0	0	G	100280797	C	G	100280797	2	3	232	1	0	0	0	0	0	0	0	1	6428	697	25	4		4	GIGYF1	7	100280797	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	3630482	100280797	58857866	190	42291											
ZAN	7455	broad.mit.edu	37	chr7	100377308	100377308	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccaggctctgcaagcCttcggggccacctgccagag	6	7	12	16	1	2	1	0	0	2	1	3	1	2	1	5	3	4	2	5	3	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:100377308C>A	ENST00000542585.1	+	0	6703				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTCTGCAAGCCTTCGGGGCCA	0.642													3	8					0.004672	0.00483886	1	0	A	100377308	C	A	100377308	1	1	232	0	1	0	0	0	0	0	0	0	17609	668	24	4		4	ZAN	7	100377308	RNA	SNP	C	TCGA-CV-5441-01A-01D-1512-08	96511	100377308	58761355	191	42292											
RELN	5649	broad.mit.edu	37	chr7	103290782	103290782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctccagcgaatcctggtGttccgggttagtgctgcgtt	4	14	13	10	3	1	0	0	0	1	0	4	1	3	0	3	2	3	4	3	2	2	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:103290782G>T	ENST00000428762.1	-	16	2100	c.1941C>A	c.(1939-1941)aaC>aaA	p.N647K	RELN_ENST00000343529.5_Missense_Mutation_p.N647K|RELN_ENST00000424685.2_Missense_Mutation_p.N647K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	647					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAATCCTGGTGTTCCGGGTTA	0.423													23	80					3.28513e-13	4.06359e-13	1	0	T	103290782	G	T	103290782	3	4	232	1	0	0	0	0	1	0	0	0	13302	1368	48	4	8641	4	RELN	7	103290782	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2913474	103290782	55847881	192	42293											
CDHR3	222256	broad.mit.edu	37	chr7	105603804	105603804	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggctctcctgggtgccAtgtcaggtaggaactcaatt	7	12	11	11	0	3	0	2	0	1	0	5	1	4	1	3	4	2	2	3	4	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:105603804A>G	ENST00000542731.1	+	1	148	c.40A>G	c.(40-42)Atg>Gtg	p.M14V	CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000317716.9_Missense_Mutation_p.M14V|CDHR3_ENST00000541203.1_Missense_Mutation_p.M14V|CDHR3_ENST00000478080.1_5'UTR|CDHR3_ENST00000470188.1_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	14					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCTGGGTGCCATGTCAGGTAG	0.488													85	163					0	0	0	0	G	105603804	A	G	105603804	3	3	232	1	0	0	0	0	1	0	0	0	3149	217	8	5	42	5	CDHR3	7	105603804	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	2313022	105603804	53534859	193	42294											
PIK3CG	5294	broad.mit.edu	37	chr7	106507993	106507993	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgtccctccgctcccAggtcgcatagggcatggagc	5	8	12	16	2	0	0	0	0	0	0	4	1	3	1	4	3	1	3	4	3	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:106507993A>T	ENST00000359195.3	+	2	298		c.e2-1		PIK3CG_ENST00000496166.1_Splice_Site|PIK3CG_ENST00000440650.2_Splice_Site	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma						G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTCCGCTCCCAGGTCGCATAG	0.567													37	101					0	0	0	0	T	106507993	A	T	106507993	5	4	232	1	0	0	0	0	0	0	1	0	11988	202	7	5		5	PIK3CG	7	106507993	Splice_Site	SNP	A	TCGA-CV-5441-01A-01D-1512-08	904189	106507993	52630670	194	42295											
PIK3CG	5294	broad.mit.edu	37	chr7	106509367	106509367	+	Missense_Mutation	SNP	C	C	A																															agagtcccccagttctgagtCcaagggcaaagttcagcttc																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:106509367C>A	ENST00000359195.3	+	2	1671	c.1361C>A	c.(1360-1362)tCc>tAc	p.S454Y	PIK3CG_ENST00000496166.1_Missense_Mutation_p.S454Y|PIK3CG_ENST00000440650.2_Missense_Mutation_p.S454Y	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	454					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGTTCTGAGTCCAAGGGCAAA	0.532													39	99					1.30998e-17	1.72245e-17	1	0	A	106509367	C	A	106509367	3	1	232	1	0	0	0	0	1	0	0	0	11988	855	30	2	1363	2	PIK3CG	7	106509367	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1374	106509367	52629296	195	42296	327	2									
PIK3CG	5294	broad.mit.edu	37	chr7	106509368	106509368	+	Silent	SNP	C	C	A																															gagtcccccagttctgagtcCaagggcaaagttcagcttct																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:106509368C>A	ENST00000359195.3	+	2	1672	c.1362C>A	c.(1360-1362)tcC>tcA	p.S454S	PIK3CG_ENST00000496166.1_Silent_p.S454S|PIK3CG_ENST00000440650.2_Silent_p.S454S	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	454					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTTCTGAGTCCAAGGGCAAAG	0.532													40	98					1.04594e-18	1.4108e-18	1	0	A	106509368	C	A	106509368	2	1	232	1	0	0	0	0	0	0	0	1	11988	581	21	4		4	PIK3CG	7	106509368	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1	106509368	52629295	196	42297	327	2									
SLC13A1	6561	broad.mit.edu	37	chr7	122787212	122787212	+	Splice_Site	SNP	C	C	T																															caatccaataaggttacttaCgtattgaaatactctgcaaa																								rs150284958		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:122787212C>T	ENST00000194130.2	-	7	852		c.e7+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1							integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGGTTACTTACGTATTGAAAT	0.358													35	38					0	0	0	0	T	122787212	C	T	122787212	5	4	232	1	0	0	0	0	0	0	1	0	14479	550	19	1	1010	1	SLC13A1	7	122787212	Splice_Site	SNP	C	TCGA-CV-5441-01A-01D-1512-08	16277844	122787212	36351451	197	42298	328	2									
SLC13A1	6561	broad.mit.edu	37	chr7	122787213	122787213	+	Splice_Site	SNP	G	G	A																															aatccaataaggttacttacGtattgaaatactctgcaaag																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:122787213G>A	ENST00000194130.2	-	7	851	c.812_splice	c.e7+1	p.T271_splice	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	271						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGTTACTTACGTATTGAAATA	0.358													35	37					0	0	0	0	A	122787213	G	A	122787213	5	1	232	1	0	0	0	0	0	0	1	0	14479	1159	40	1	1011	1	SLC13A1	7	122787213	Splice_Site	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1	122787213	36351450	198	42299	328	2									
GPR37	2861	broad.mit.edu	37	chr7	124387211	124387211	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccccaaatcctccttgcTcagctggcggagaacaactt	12	8	7	14	1	1	1	1	0	0	1	3	2	3	1	4	2	5	2	4	2	4	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:124387211T>A	ENST00000303921.2	-	2	1860	c.1210A>T	c.(1210-1212)Agc>Tgc	p.S404C		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	404						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCTCCTTGCTCAGCTGGCGG	0.473													44	104					0	0	0	0	A	124387211	T	A	124387211	3	1	232	1	0	0	0	0	1	0	0	0	6740	1551	54	5	635	5	GPR37	7	124387211	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	1599998	124387211	34751452	199	42300											
LRRC4	64101	broad.mit.edu	37	chr7	127670179	127670179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaagtccaggcgcatgaggGagggcacccggttgaaggcg	9	4	17	11	3	0	2	0	2	0	0	1	3	1	3	3	5	0	3	3	5	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:127670179G>A	ENST00000249363.3	-	2	772	c.515C>T	c.(514-516)tCc>tTc	p.S172F	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	172						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GCGCATGAGGGAGGGCACCCG	0.567													56	117					0	0	0	0	A	127670179	G	A	127670179	3	1	232	1	0	0	0	0	1	0	0	0	9061	1174	41	2	1450	2	LRRC4	7	127670179	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	3282968	127670179	31468484	200	42301											
MGAM	8972	broad.mit.edu	37	chr7	141719028	141719028	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaccaacgtggctgttgctgGaatccccagggagctgtaag	9	8	14	10	1	0	0	0	0	0	0	1	3	1	2	3	3	3	5	3	3	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:141719028G>A	ENST00000475668.2	+	4	411	c.357G>A	c.(355-357)tgG>tgA	p.W119*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.W119*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	119	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTGTTGCTGGAATCCCCAGG	0.448													38	112					0	0	0	0	A	141719028	G	A	141719028	4	1	232	1	0	0	0	0	0	1	0	0	9610	1183	41	2	367	2	MGAM	7	141719028	Nonsense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	14048849	141719028	17419635	201	42302											
MGAM	8972	broad.mit.edu	37	chr7	141765554	141765554	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttctttcaagacgctgagTacgagatgtgtgttcgctgg	7	13	14	7	3	2	3	1	1	1	2	3	4	2	3	0	2	1	5	0	2	2	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:141765554T>A	ENST00000475668.2	+	40	4747	c.4693T>A	c.(4693-4695)Tac>Aac	p.Y1565N	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1565	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACGCTGAGTACGAGATGTG	0.498													23	56					0	0	0	0	A	141765554	T	A	141765554	3	1	232	1	0	0	0	0	1	0	0	0	9610	1653	57	5		5	MGAM	7	141765554	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	46526	141765554	17373109	202	42303											
CLCN1	1180	broad.mit.edu	37	chr7	143028713	143028713	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgctcggtgtccgaaaGcacaaggccctcagccagtt	9	8	11	13	2	2	0	2	0	0	0	4	1	3	0	3	2	3	3	3	2	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:143028713G>A	ENST00000343257.2	+	10	1221	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	378					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)					GTGTCCGAAAGCACAAGGCCC	0.478													37	93					0	0	0	0	A	143028713	G	A	143028713	2	1	232	1	0	0	0	0	0	0	0	1	3492	962	34	4		4	CLCN1	7	143028713	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1263159	143028713	16109950	203	42304											
SSPO	23145	broad.mit.edu	37	chr7	149473575	149473575	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccctggagtggccgctcggGgcttacccggtccccagcgc	3	6	15	17	4	0	0	0	0	0	0	2	1	1	1	5	5	2	2	5	5	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:149473575G>A	ENST00000378016.2	+	0	191							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCGCTCGGGGCTTACCCGG	0.662													4	6					0	0	0	0	A	149473575	G	A	149473575	1	1	232	0	1	0	0	0	0	0	0	0	15279	1232	43	4		4	SSPO	7	149473575	RNA	SNP	G	TCGA-CV-5441-01A-01D-1512-08	6444862	149473575	9665088	204	42305											
PTK2B	2185	broad.mit.edu	37	chr8	27311740	27311740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgtcatggagctggtgCgggccgtgctggagctcaag	7	9	16	9	2	3	0	3	0	0	0	3	2	3	2	1	4	4	3	1	4	2	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:27311740C>T	ENST00000397501.1	+	34	3473	c.2665C>T	c.(2665-2667)Cgg>Tgg	p.R889W	PTK2B_ENST00000346049.5_Missense_Mutation_p.R889W|PTK2B_ENST00000544172.1_Missense_Mutation_p.R889W|PTK2B_ENST00000338238.4_Missense_Mutation_p.R847W|PTK2B_ENST00000420218.2_Missense_Mutation_p.R847W|PTK2B_ENST00000517339.1_Missense_Mutation_p.R847W	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	889	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GGAGCTGGTGCGGGCCGTGCT	0.622													30	26					0	0	0	0	T	27311740	C	T	27311740	3	4	232	1	0	0	0	0	1	0	0	0	12843	759	27	1	2775	1	PTK2B	8	27311740	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08		27311740	119052282	205	42306											
PBK	55872	broad.mit.edu	37	chr8	27668593	27668593	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaataacaccattctcctcCacagcttctttgggtttcca	9	14	5	13	0	2	0	0	0	2	0	5	0	4	0	4	1	2	3	4	1	2	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:27668593C>T	ENST00000301905.4	-	7	1117	c.654G>A	c.(652-654)gtG>gtA	p.V218V	PBK_ENST00000522944.1_Silent_p.V229V|ESCO2_ENST00000397418.2_Intron	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	218	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		CATTCTCCTCCACAGCTTCTT	0.428													26	30					0	0	0	0	T	27668593	C	T	27668593	2	4	232	1	0	0	0	0	0	0	0	1	11559	581	21	4		4	PBK	8	27668593	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	356853	27668593	118695429	206	42307											
C8orf34	116328	broad.mit.edu	37	chr8	69633639	69633639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactaatggaggagggtgaCgaatttgagaaagcatctaa	15	8	13	5	1	1	2	0	2	1	1	1	6	1	4	0	3	1	2	0	3	4	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:69633639C>A	ENST00000337103.4	+	9	2630	c.1038C>A	c.(1036-1038)gaC>gaA	p.D346E	C8orf34_ENST00000325233.3_Missense_Mutation_p.D115E|C8orf34_ENST00000518698.1_Missense_Mutation_p.D457E|C8orf34_ENST00000539993.1_Missense_Mutation_p.D371E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	371					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGGAGGGTGACGAATTTGAGA	0.284													31	36					8.16277e-20	1.13023e-19	1	0	A	69633639	C	A	69633639	3	1	232	1	0	0	0	0	1	0	0	0	2446	535	19	3	1072	3	C8orf34	8	69633639	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	41965046	69633639	76730383	207	42308											
XKR9	389668	broad.mit.edu	37	chr8	71646336	71646336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattcttatataggattgttGttggattcattcttatcttt	9	22	6	4	0	4	0	1	0	3	0	4	2	4	2	0	2	0	2	0	2	5	11			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:71646336G>T	ENST00000408926.3	+	5	1333	c.799G>T	c.(799-801)Gtt>Ttt	p.V267F	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.V267F	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	267						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TAGGATTGTTGTTGGATTCAT	0.313													52	61					2.27781e-18	3.03321e-18	1	0	T	71646336	G	T	71646336	3	4	232	1	0	0	0	0	1	0	0	0	17534	1377	48	4	809	4	XKR9	8	71646336	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2012697	71646336	74717686	208	42309											
TRPA1	8989	broad.mit.edu	37	chr8	72973870	72973870	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacttgcctgtgaagcaTggtctcatgacatccatcgg	10	10	11	10	1	1	2	1	2	1	0	4	3	2	3	2	3	3	1	2	3	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:72973870T>C	ENST00000262209.4	-	7	1141	c.934A>G	c.(934-936)Atg>Gtg	p.M312V		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	312						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGTGAAGCATGGTCTCATGA	0.423													91	77					0	0	0	0	C	72973870	T	C	72973870	3	2	232	1	0	0	0	0	1	0	0	0	16672	1464	51	5	2509	5	TRPA1	8	72973870	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	1327534	72973870	73390152	209	42310											
ZFHX4	79776	broad.mit.edu	37	chr8	77775986	77775986	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagcagcagaaaccagttCaggcaaagacatccaaagta	19	4	8	10	0	1	2	1	0	0	2	2	2	2	2	2	1	4	5	2	1	5	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:77775986C>G	ENST00000521891.2	+	11	10484	c.10036C>G	c.(10036-10038)Cag>Gag	p.Q3346E	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q3297E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q3320E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q3301E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3297						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			gAAACCAGTTCAGGCAAAGAC	0.463										HNSCC(33;0.089)			3	3					0	0	0	0	G	77775986	C	G	77775986	3	3	232	1	0	0	0	0	1	0	0	0	17730	827	29	2	10074	2	ZFHX4	8	77775986	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	4802116	77775986	68588036	210	42311											
RALYL	138046	broad.mit.edu	37	chr8	85799925	85799925	+	Missense_Mutation	SNP	C	C	A																															cagatcactctacagaggagCctgctgaaggagggccagat																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:85799925C>A	ENST00000521268.1	+	8	1877	c.772C>A	c.(772-774)Cct>Act	p.P258T	RALYL_ENST00000521695.1_Missense_Mutation_p.P258T|RALYL_ENST00000518566.1_Missense_Mutation_p.P247T|RALYL_ENST00000522455.1_Missense_Mutation_p.P258T|RALYL_ENST00000517638.1_Missense_Mutation_p.P271T|RALYL_ENST00000523850.1_Missense_Mutation_p.P185T|RALYL_ENST00000521376.1_Intron	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	258							identical protein binding|nucleotide binding|RNA binding	p.P258S(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TACAGAGGAGCCTGCTGAAGG	0.512													85	79					5.14759e-42	8.31902e-42	1	0	A	85799925	C	A	85799925	3	1	232	1	0	0	0	0	1	0	0	0	13102	739	26	4	841	4	RALYL	8	85799925	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	8023939	85799925	60564097	211	42312	329	2									
RALYL	138046	broad.mit.edu	37	chr8	85799926	85799926	+	Missense_Mutation	SNP	C	C	A																															agatcactctacagaggagcCtgctgaaggagggccagatg																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:85799926C>A	ENST00000521268.1	+	8	1878	c.773C>A	c.(772-774)cCt>cAt	p.P258H	RALYL_ENST00000521695.1_Missense_Mutation_p.P258H|RALYL_ENST00000518566.1_Missense_Mutation_p.P247H|RALYL_ENST00000522455.1_Missense_Mutation_p.P258H|RALYL_ENST00000517638.1_Missense_Mutation_p.P271H|RALYL_ENST00000523850.1_Missense_Mutation_p.P185H|RALYL_ENST00000521376.1_Intron	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	258							identical protein binding|nucleotide binding|RNA binding	p.P258S(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ACAGAGGAGCCTGCTGAAGGA	0.512													84	79					1.11057e-38	1.76743e-38	1	0	A	85799926	C	A	85799926	3	1	232	1	0	0	0	0	1	0	0	0	13102	681	24	4	842	4	RALYL	8	85799926	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1	85799926	60564096	212	42313	329	2									
SLC26A7	115111	broad.mit.edu	37	chr8	92307834	92307834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagaacatgcagaatctcaCcacacagagtaacacaagcg	17	5	7	12	1	2	3	2	0	1	3	3	3	2	3	1	0	4	2	1	0	4	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:92307834C>A	ENST00000276609.3	+	4	619	c.380C>A	c.(379-381)aCc>aAc	p.T127N	SLC26A7_ENST00000523719.1_Missense_Mutation_p.T127N|SLC26A7_ENST00000309536.2_Missense_Mutation_p.T127N	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	127						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAGAATCTCACCACACAGAGT	0.498													11	152					0.00829132	0.00855349	1	0	A	92307834	C	A	92307834	3	1	232	1	0	0	0	0	1	0	0	0	14610	507	18	4	390	4	SLC26A7	8	92307834	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	6507908	92307834	54056188	213	42314											
RIMS2	9699	broad.mit.edu	37	chr8	105105870	105105870	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggaaacaagaaaatcAggtaaggggatttcaacaac	19	5	11	6	0	2	1	2	0	0	1	2	4	2	4	0	5	3	1	0	5	7	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:105105870A>T	ENST00000436393.2	+	21	3134	c.2894_splice	c.e21+1	p.R965_splice	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	410					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAGAAAATCAGGTAAGGGGA	0.368										HNSCC(12;0.0054)			50	28					0	0	0	0	T	105105870	A	T	105105870	5	4	232	1	0	0	0	0	0	0	1	0	13453	203	7	5		5	RIMS2	8	105105870	Splice_Site	SNP	A	TCGA-CV-5441-01A-01D-1512-08	12798036	105105870	41258152	214	42315											
PKHD1L1	93035	broad.mit.edu	37	chr8	110453596	110453596	+	Frame_Shift_Del	DEL	G	G	-																															tattcaggattaccaacaatGggaaagattcaggtatcagc																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:110453596delG	ENST00000378402.5	+	34	4296	c.4192delG	c.(4192-4194)ggfs	p.G1398fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1398	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCAACAATGGGAAAGATTC	0.289										HNSCC(38;0.096)			11	32	---	---	---	---					-	110453596	G	-	110453596	7	5	232	1	0	1	0	1	0	0	0	0	12044	1348	47	0	4326	0	PKHD1L1	8	110453596	Frame_Shift_Del	DEL	G	TCGA-CV-5441-01A-01D-1512-08	5347726	110453596	35910426	215	42316											
CSMD3	114788	broad.mit.edu	37	chr8	113326813	113326813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctcaatatgactccagtaGaatctagccgtaattcattg	12	12	8	9	1	3	2	2	1	1	1	4	2	4	2	2	1	1	3	2	1	6	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:113326813G>A	ENST00000297405.5	-	48	7638	c.7394C>T	c.(7393-7395)tCt>tTt	p.S2465F	CSMD3_ENST00000455883.2_Missense_Mutation_p.S2361F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2395F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2425F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2465	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GACTCCAGTAGAATCTAGCCG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	29					0	0	0	0	A	113326813	G	A	113326813	3	1	232	1	0	0	0	0	1	0	0	0	3978	942	33	2	3825	2	CSMD3	8	113326813	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2873217	113326813	33037209	216	42317											
CSMD3	114788	broad.mit.edu	37	chr8	113504751	113504751	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaggctctattccatccagGtcttccatcatctcccatga	9	12	5	15	0	4	1	1	1	3	0	8	1	7	1	4	2	0	1	4	2	2	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:113504751G>T	ENST00000297405.5	-	31	5489	c.5245C>A	c.(5245-5247)Cct>Act	p.P1749T	CSMD3_ENST00000455883.2_Missense_Mutation_p.P1645T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1749T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1709T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1749	Sushi 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCCATCCAGGTCTTCCATCA	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	167					7.41945e-09	8.58748e-09	1	0	T	113504751	G	T	113504751	3	4	232	1	0	0	0	0	1	0	0	0	3978	1261	44	4	6042	4	CSMD3	8	113504751	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	177938	113504751	32859271	217	42318											
FAM135B	51059	broad.mit.edu	37	chr8	139380222	139380222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaccgttccttgtatttcaGacatgatctttttggctcat	8	17	6	10	1	3	2	2	1	1	1	4	2	4	2	2	1	1	3	2	1	2	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:139380222G>A	ENST00000395297.1	-	2	175	c.5C>T	c.(4-6)tCt>tTt	p.S2F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	2										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGTATTTCAGACATGATCTT	0.363										HNSCC(54;0.14)			77	99					0	0	0	0	A	139380222	G	A	139380222	3	1	232	1	0	0	0	0	1	0	0	0	5490	942	33	2	4291	2	FAM135B	8	139380222	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	25875471	139380222	6983800	218	42319											
COL22A1	169044	broad.mit.edu	37	chr8	139620234	139620234	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgatccattcttgcccTggtggaagaaacagaggtaa	11	9	12	9	1	1	3	0	1	1	2	2	4	2	4	3	4	2	1	3	4	3	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:139620234T>G	ENST00000303045.6	-	57	4425		c.e57-2		COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ATTCTTGCCCTGGTGGAAGAA	0.517										HNSCC(7;0.00092)			21	108					0	0	0	0	G	139620234	T	G	139620234	5	3	232	1	0	0	0	0	0	0	1	0	3711	1594	55	5	939	5	COL22A1	8	139620234	Splice_Site	SNP	T	TCGA-CV-5441-01A-01D-1512-08	240012	139620234	6743788	219	42320											
KCNK9	51305	broad.mit.edu	37	chr8	140630763	140630763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcaggtccgggacgtccGccttgtacctgggccggctg	4	8	15	14	4	0	0	0	0	0	0	2	1	2	1	5	4	2	3	5	4	1	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:140630763G>A	ENST00000520439.1	-	2	926	c.863C>T	c.(862-864)gCg>gTg	p.A288V	KCNK9_ENST00000303015.1_Missense_Mutation_p.A288V			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	288						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.A288V(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGGGACGTCCGCCTTGTACCT	0.667													77	62					0	0	0	0	A	140630763	G	A	140630763	3	1	232	1	0	0	0	0	1	0	0	0	8125	1087	38	1	265	1	KCNK9	8	140630763	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1010529	140630763	5733259	220	42321											
TSNARE1	203062	broad.mit.edu	37	chr8	143381940	143381940	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctcctggccctgccaCatgttgtcactcccgttaaa	6	11	8	16	1	1	0	1	0	0	0	3	0	3	0	5	1	2	3	5	1	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:143381940C>A	ENST00000519651.1	-	8	643	c.540G>T	c.(538-540)atG>atT	p.M180I	TSNARE1_ENST00000524325.1_Missense_Mutation_p.M398I|TSNARE1_ENST00000307180.3_Missense_Mutation_p.M399I|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Missense_Mutation_p.M399I			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	399					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGCCCTGCCACATGTTGTCAC	0.607													15	163					2.62699e-14	3.29636e-14	1	0	A	143381940	C	A	143381940	3	1	232	1	0	0	0	0	1	0	0	0	16725	478	17	4	360	4	TSNARE1	8	143381940	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	2751177	143381940	2982082	221	42322											
SLC39A4	55630	broad.mit.edu	37	chr8	145642057	145642057	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccagagcctcttgatcCagagcgccctggccagaggt	7	6	12	16	2	1	4	0	1	1	3	2	4	2	4	6	2	2	0	6	2	0	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:145642057C>A	ENST00000301305.3	-	1	222	c.117G>T	c.(115-117)ctG>ctT	p.L39L		NM_130849.2	NP_570901.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	39						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CCTCTTGATCCAGAGCGCCCT	0.682													15	11					2.31682e-05	2.51954e-05	1	0	A	145642057	C	A	145642057	2	1	232	1	0	0	0	0	0	0	0	1	14708	581	21	4		4	SLC39A4	8	145642057	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	2260117	145642057	721965	222	42323											
DOCK8	81704	broad.mit.edu	37	chr9	312083	312083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgcagcaagtgagtgccGaggactttgagaagcagaac	12	7	13	9	1	0	3	0	2	0	2	1	6	1	4	2	1	5	3	2	1	3	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:312083G>A	ENST00000432829.2	+	6	770	c.454G>A	c.(454-456)Gag>Aag	p.E152K	DOCK8_ENST00000469391.1_Missense_Mutation_p.E152K|DOCK8_ENST00000453981.1_Missense_Mutation_p.E220K	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	220					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTGAGTGCCGAGGACTTTGA	0.597													56	95					0	0	0	0	A	312083	G	A	312083	3	1	232	1	0	0	0	0	1	0	0	0	4729	1059	37	1	680	1	DOCK8	9	312083	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08		312083	140901348	223	42324											
KANK1	23189	broad.mit.edu	37	chr9	713363	713363	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctccctcaactctcagcTcatcagcaccctgtcgtcta	7	10	7	17	1	5	0	4	0	2	0	8	0	6	0	2	1	3	3	2	1	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:713363T>C	ENST00000382303.1	+	7	3249	c.2597T>C	c.(2596-2598)cTc>cCc	p.L866P	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.L866P|KANK1_ENST00000382293.3_Missense_Mutation_p.L708P	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	866					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AACTCTCAGCTCATCAGCACC	0.512													91	94					0	0	0	0	C	713363	T	C	713363	3	2	232	1	0	0	0	0	1	0	0	0	8029	1551	54	5	2603	5	KANK1	9	713363	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	401280	713363	140500068	224	42325											
C9orf72	203228	broad.mit.edu	37	chr9	27561618	27561620	+	In_Frame_Del	DEL	ATC	ATC	-																															tcatgacagctgtcaccaatAtcatcatcattgagtactgt																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:27561618_27561620delATC	ENST00000380003.3	-	5	691_693	c.628_630delGAT	c.(628-630)del	p.D210del	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_In_Frame_Del_p.D210del	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	210										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TGTCACCAATATCATCATCATTG	0.315													29	98	---	---	---	---					-	27561620	ATC	-	27561618	7	5	232	1	0	1	0	1	0	0	0	0	2520	446	16	0	847	0	C9orf72	9	27561618	In_Frame_Del	DEL	ATC	TCGA-CV-5441-01A-01D-1512-08	26848255	27561618	113651813	225	42326											
OR13J1	392309	broad.mit.edu	37	chr9	35869982	35869982	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccatcagcagcacgcagagCcggtggctcatgagcacgtg	9	5	13	14	3	2	2	2	1	0	1	2	2	2	2	2	2	4	5	2	2	0	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:35869982C>G	ENST00000377981.2	-	1	479	c.417G>C	c.(415-417)cgG>cgC	p.R139R		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCACGCAGAGCCGGTGGCTCA	0.637													34	68					0	0	0	0	G	35869982	C	G	35869982	2	3	232	1	0	0	0	0	0	0	0	1	11015	726	26	4		4	OR13J1	9	35869982	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	8308364	35869982	105343449	226	42327											
FOXD4L5	653427	broad.mit.edu	37	chr9	70177139	70177139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgccttctgctttcttcGgtgccccggcatagacgggg	3	10	13	15	5	2	1	0	0	2	1	3	1	2	1	4	4	2	2	4	4	1	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:70177139G>T	ENST00000377420.1	-	1	1676	c.845C>A	c.(844-846)cCg>cAg	p.P282Q		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	282					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						TGCTTTCTTCGGTGCCCCGGC	0.677													17	97					3.08376e-08	3.54565e-08	1	0	T	70177139	G	T	70177139	3	4	232	1	0	0	0	0	1	0	0	0	6049	1116	39	3	409	3	FOXD4L5	9	70177139	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	34307157	70177139	71036292	227	42328											
PIP5K1B	8395	broad.mit.edu	37	chr9	71503929	71503929	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaacctctaatagaactGtctaaccctggagccagtgg	12	9	10	10	0	2	2	0	1	2	1	2	3	2	3	3	2	4	0	3	2	5	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:71503929G>A	ENST00000265382.3	+	7	656	c.351G>A	c.(349-351)ctG>ctA	p.L117L	PIP5K1B_ENST00000541509.1_Silent_p.L117L	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	117	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TAATAGAACTGTCTAACCCTG	0.383													54	130					0	0	0	0	A	71503929	G	A	71503929	2	1	232	1	0	0	0	0	0	0	0	1	12012	1364	48	4		4	PIP5K1B	9	71503929	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1326790	71503929	69709502	228	42329											
TJP2	9414	broad.mit.edu	37	chr9	71845118	71845118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacctcggcggagcaggaGggccttcaagaaggagacca	11	3	17	10	2	1	2	1	0	0	2	2	6	1	5	3	6	1	1	3	6	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:71845118G>T	ENST00000377245.4	+	11	1849	c.1641G>T	c.(1639-1641)gaG>gaT	p.E547D	TJP2_ENST00000453658.2_Missense_Mutation_p.E524D|TJP2_ENST00000539225.1_Missense_Mutation_p.E578D|TJP2_ENST00000265384.7_Missense_Mutation_p.E547D|TJP2_ENST00000535702.1_Missense_Mutation_p.E551D|TJP2_ENST00000348208.4_Missense_Mutation_p.E547D	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	547	PDZ 3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CGGAGCAGGAGGGCCTTCAAG	0.517													37	55					3.78316e-11	4.53979e-11	1	0	T	71845118	G	T	71845118	3	4	232	1	0	0	0	0	1	0	0	0	16024	991	35	4	1840	4	TJP2	9	71845118	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	341189	71845118	69368313	229	42330											
TMC1	117531	broad.mit.edu	37	chr9	75445586	75445586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgaaacaagaaaatggcaGctgcacgagcaggttggaga	15	5	14	7	2	0	2	0	0	0	2	0	5	0	2	0	3	5	5	0	3	4	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:75445586G>T	ENST00000297784.5	+	23	2788	c.2248G>T	c.(2248-2250)Gct>Tct	p.A750S	TMC1_ENST00000396237.3_Missense_Mutation_p.A750S|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.A750S	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	750	Poly-Ala.				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GAAAATGGCAGCTGCACGAGC	0.318													9	33					0.00829132	0.00855349	1	0	T	75445586	G	T	75445586	3	4	232	1	0	0	0	0	1	0	0	0	16078	971	34	4	2322	4	TMC1	9	75445586	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	3600468	75445586	65767845	230	42331											
FOXB2	442425	broad.mit.edu	37	chr9	79635087	79635087	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccgccgccgcccccgccgCcgccgcacatggtacactat	5	4	10	22	8	0	0	0	0	0	0	0	0	0	0	8	1	1	2	8	1	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:79635087C>A	ENST00000376708.1	+	1	517	c.517C>A	c.(517-519)Ccg>Acg	p.P173T		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	173	Poly-Pro.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						gcccccgccgccgccgcACAT	0.706													5	10					0.184627	0.186413	1	0	A	79635087	C	A	79635087	3	1	232	1	0	0	0	0	1	0	0	0	6038	739	26	4	519	4	FOXB2	9	79635087	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	4189501	79635087	61578344	231	42332											
S1PR3	1903	broad.mit.edu	37	chr9	91616672	91616672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacaatctccctgactgctCtaccatcctgcccctctact	7	11	4	19	0	3	1	0	1	3	0	5	1	4	1	5	0	4	2	5	0	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:91616672C>T	ENST00000375846.3	+	1	5252	c.557C>T	c.(556-558)tCt>tTt	p.S186F	S1PR3_ENST00000358157.2_Missense_Mutation_p.S186F			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	186					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CCTGACTGCTCTACCATCCTG	0.577											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	67					0	0	0	0	T	91616672	C	T	91616672	3	4	232	1	0	0	0	0	1	0	0	0	13880	913	32	2	559	2	S1PR3	9	91616672	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	11981585	91616672	49596759	232	42333											
OR1N2	138882	broad.mit.edu	37	chr9	125315759	125315759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgctggccaacattcataCccagagtcagatcatctcgt	12	10	7	12	1	4	2	3	0	1	2	5	2	4	2	2	1	3	1	2	1	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:125315759C>A	ENST00000373688.2	+	1	369	c.311C>A	c.(310-312)aCc>aAc	p.T104N		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AACATTCATACCCAGAGTCAG	0.478													86	162					1.12511e-72	1.89454e-72	1	0	A	125315759	C	A	125315759	3	1	232	1	0	0	0	0	1	0	0	0	11041	507	18	4	313	4	OR1N2	9	125315759	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	33699087	125315759	15897672	233	42334											
NOTCH1	4851	broad.mit.edu	37	chr9	139407552	139407552	+	Frame_Shift_Del	DEL	C	C	-																															tggttcagacatgggttggaCgcacactcgttgatgttggt																								rs143360959	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:139407552delC	ENST00000277541.6	-	15	2463	c.2388delG	c.(2386-2388)gcfs	p.A796fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	796	EGF-like 21; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGGGTTGGACGCACACTCGT	0.622			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			26	36	---	---	---	---					-	139407552	C	-	139407552	7	5	232	1	0	1	0	1	0	0	0	0	10617	523	19	0	5359	0	NOTCH1	9	139407552	Frame_Shift_Del	DEL	C	TCGA-CV-5441-01A-01D-1512-08	14091793	139407552	1805879	234	42335											
NDOR1	27158	broad.mit.edu	37	chr9	140108321	140108321	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctgggcgatgaccagcAtgagctggggtgagtctgcg	6	8	18	9	2	1	3	0	3	1	0	1	4	1	3	2	3	4	2	2	3	0	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:140108321A>G	ENST00000371521.4	+	4	484	c.401A>G	c.(400-402)cAt>cGt	p.H134R	NDOR1_ENST00000458322.2_Missense_Mutation_p.H134R|NDOR1_ENST00000344894.5_Missense_Mutation_p.H134R|NDOR1_ENST00000427047.2_Missense_Mutation_p.H134R	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	134	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GATGACCAGCATGAGCTGGGG	0.677													17	10					0	0	0	0	G	140108321	A	G	140108321	3	3	232	1	0	0	0	0	1	0	0	0	10319	217	8	5	415	5	NDOR1	9	140108321	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	700769	140108321	1105110	235	42336											
ZEB1	6935	broad.mit.edu	37	chr10	31816121	31816121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacagggctgaaagtcaaGcaagcagcttaggacaaaaa	18	5	11	7	0	1	2	1	2	0	0	1	3	1	3	0	2	3	4	0	2	6	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:31816121G>T	ENST00000446923.2	+	9	3647	c.3256G>T	c.(3256-3258)Gca>Tca	p.A1086S	ZEB1_ENST00000560721.2_Missense_Mutation_p.A1082S|ZEB1_ENST00000361642.5_Missense_Mutation_p.A1103S|ZEB1_ENST00000320985.10_Missense_Mutation_p.A1102S|ZEB1_ENST00000542815.3_Missense_Mutation_p.A1035S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1102	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGAAAGTCAAGCAAGCAGCTT	0.418													16	25					1.33834e-09	1.56289e-09	1	0	T	31816121	G	T	31816121	3	4	232	1	0	0	0	0	1	0	0	0	17718	971	34	4	3352	4	ZEB1	10	31816121	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08		31816121	103718626	236	42337											
ARHGAP22	58504	broad.mit.edu	37	chr10	49763518	49763518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcctacctgggctgatCtcaaagaggtgcttccctgg	7	10	12	12	0	2	2	2	1	1	1	4	2	3	2	3	4	2	2	3	4	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:49763518C>A	ENST00000249601.4	-	3	608	c.312G>T	c.(310-312)gaG>gaT	p.E104D	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E104D|ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E110D	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	104	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGGGCTGATCTCAAAGAGGT	0.577													47	108					2.55665e-31	3.86832e-31	1	0	A	49763518	C	A	49763518	3	1	232	1	0	0	0	0	1	0	0	0	874	912	32	2	1816	2	ARHGAP22	10	49763518	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	17947397	49763518	85771229	237	42338											
OGDHL	55753	broad.mit.edu	37	chr10	50946031	50946031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatctgccggcgcagcaCgtggaagtagttggccggtg	7	7	17	10	4	1	0	0	0	1	0	1	2	1	2	2	5	2	4	2	5	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:50946031C>A	ENST00000374103.4	-	19	2564	c.2479G>T	c.(2479-2481)Gtg>Ttg	p.V827L	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.V618L|OGDHL_ENST00000419399.1_Missense_Mutation_p.V770L	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	827					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGGCGCAGCACGTGGAAGTAG	0.652													70	169					1.79293e-35	2.80213e-35	1	0	A	50946031	C	A	50946031	3	1	232	1	0	0	0	0	1	0	0	0	10911	536	19	3	573	3	OGDHL	10	50946031	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1182513	50946031	84588716	238	42339											
PCDH15	65217	broad.mit.edu	37	chr10	56077052	56077052	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagttctcaactcaggtatGgcagcttgataagtgagtgg	10	11	14	6	0	2	2	2	2	1	0	3	3	2	3	0	4	2	4	0	4	3	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:56077052G>T	ENST00000373965.2	-	8	1249	c.855C>A	c.(853-855)gcC>gcA	p.A285A	PCDH15_ENST00000373957.3_Silent_p.A263A|PCDH15_ENST00000437009.1_Silent_p.A285A|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373955.1_Silent_p.A285A|PCDH15_ENST00000395442.1_Silent_p.A285A|PCDH15_ENST00000395440.1_Silent_p.A285A|PCDH15_ENST00000361849.3_Silent_p.A285A|PCDH15_ENST00000395446.1_Silent_p.A285A|PCDH15_ENST00000395432.2_Silent_p.A248A|PCDH15_ENST00000395438.1_Silent_p.A285A|PCDH15_ENST00000320301.6_Silent_p.A285A|PCDH15_ENST00000395430.1_Silent_p.A285A|PCDH15_ENST00000395433.1_Silent_p.A263A|PCDH15_ENST00000414778.1_Silent_p.A290A|PCDH15_ENST00000395445.1_Silent_p.A285A	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	285	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A285A(2)|p.A290A(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTCAGGTATGGCAGCTTGAT	0.413										HNSCC(58;0.16)			29	34					9.65021e-13	1.19088e-12	1	0	T	56077052	G	T	56077052	2	4	232	1	0	0	0	0	0	0	0	1	11582	1335	47	4		4	PCDH15	10	56077052	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	5131021	56077052	79457695	239	42340											
CTNNA3	29119	broad.mit.edu	37	chr10	68280484	68280484	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccatggtgtttttgacCgcttgacttttgggtcttgc	4	19	10	8	1	1	2	0	2	1	0	2	2	2	2	2	2	1	2	2	2	0	7			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:68280484C>A	ENST00000433211.1	-	11	1596	c.1422G>T	c.(1420-1422)gcG>gcT	p.A474A	CTNNA3_ENST00000373744.4_Silent_p.A474A	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	474					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGTTTTTGACCGCTTGACTTT	0.378													43	94					3.7052e-28	5.52604e-28	1	0	A	68280484	C	A	68280484	2	1	232	1	0	0	0	0	0	0	0	1	4046	639	23	3		3	CTNNA3	10	68280484	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	12203432	68280484	67254263	240	42341											
GHITM	27069	broad.mit.edu	37	chr10	85901368	85901368	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcacgaagaatcaatggCtgttaacacctagcagggta	14	8	9	10	1	2	1	2	0	0	1	2	2	2	1	2	2	2	4	2	2	6	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:85901368C>T	ENST00000372134.3	+	2	305	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	38					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						GAATCAATGGCTGTTAACACC	0.448													55	128					0	0	0	0	T	85901368	C	T	85901368	2	4	232	1	0	0	0	0	0	0	0	1	6421	796	28	4		4	GHITM	10	85901368	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	17620884	85901368	49633379	241	42342											
LDB3	11155	broad.mit.edu	37	chr10	88446827	88446827	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcacccctcccccagcGccgactaccaggaacgcttc	7	5	7	22	4	0	0	0	0	0	0	3	2	2	1	7	1	3	2	7	1	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:88446827G>T	ENST00000429277.2	+	6	836	c.689_splice	c.e6-1	p.A231_splice	LDB3_ENST00000372066.3_Splice_Site_p.A116_splice|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000372056.4_Splice_Site_p.A231_splice|LDB3_ENST00000458213.2_Splice_Site_p.A116_splice|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000263066.6_Splice_Site_p.A116_splice	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	231						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	p.A231P(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTCCCCCAGCGCCGACTACCA	0.672													86	263					1.81764e-44	2.95579e-44	1	0	T	88446827	G	T	88446827	5	4	232	1	0	0	0	0	0	0	1	0	8750	1101	38	3	736	3	LDB3	10	88446827	Splice_Site	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2545459	88446827	47087920	242	42343											
PKD2L1	9033	broad.mit.edu	37	chr10	102050189	102050189	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctgaaacccagcctcCtgctctggcagcctctggac	6	10	8	17	0	3	1	0	1	3	0	5	2	4	2	5	2	4	2	5	2	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:102050189C>A	ENST00000318222.3	-	13	2477	c.2095G>T	c.(2095-2097)Gga>Tga	p.G699*	PKD2L1_ENST00000353274.3_Nonsense_Mutation_p.G699*|PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.G624*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	699					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		ACCCAGCCTCCTGCTCTGGCA	0.517													17	41					7.21436e-19	9.75621e-19	1	0	A	102050189	C	A	102050189	4	1	232	1	0	0	0	0	0	1	0	0	12039	690	24	4	338	4	PKD2L1	10	102050189	Nonsense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	13603362	102050189	33484558	243	42344											
MKI67	4288	broad.mit.edu	37	chr10	129904753	129904753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctactgctggtttgggtGtgtgcatggctttgcctgct	3	15	13	10	0	0	0	0	0	0	0	0	0	0	0	2	3	5	5	2	3	1	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:129904753G>A	ENST00000368654.3	-	13	5726	c.5351C>T	c.(5350-5352)aCa>aTa	p.T1784I	MKI67_ENST00000368653.3_Missense_Mutation_p.T1424I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1784	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGTGTGTGCATGGC	0.468													86	209					0	0	0	0	A	129904753	G	A	129904753	3	1	232	1	0	0	0	0	1	0	0	0	9667	1377	48	4	4431	4	MKI67	10	129904753	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	27854564	129904753	5629994	244	42345											
KNDC1	85442	broad.mit.edu	37	chr10	135011840	135011840	+	Splice_Site	SNP	G	G	T																															ctcagccccctggctccccaGgcttcctgccggtgaacagc																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:135011840G>T	ENST00000304613.3	+	13	1927		c.e13-1		KNDC1_ENST00000368572.2_Splice_Site|KNDC1_ENST00000368571.2_Splice_Site			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGGCTCCCCAGGCTTCCTGCC	0.721													5	9					8.12818e-05	8.73027e-05	1	0	T	135011840	G	T	135011840	5	4	232	1	0	0	0	0	0	0	1	0	8478	1014	35	4	1956	4	KNDC1	10	135011840	Splice_Site	SNP	G	TCGA-CV-5441-01A-01D-1512-08	5107087	135011840	522907	245	42346	330	2									
KNDC1	85442	broad.mit.edu	37	chr10	135011841	135011841	+	Splice_Site	SNP	G	G	T																															tcagccccctggctccccagGcttcctgccggtgaacagcg																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:135011841G>T	ENST00000304613.3	+	13	1928	c.1906_splice	c.e13-1	p.G636_splice	KNDC1_ENST00000368572.2_Splice_Site_p.G636_splice|KNDC1_ENST00000368571.2_Splice_Site_p.G571_splice			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	636					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCTCCCCAGGCTTCCTGCCG	0.721													5	8					8.12818e-05	8.73027e-05	1	0	T	135011841	G	T	135011841	5	4	232	1	0	0	0	0	0	0	1	0	8478	1217	42	4	1957	4	KNDC1	10	135011841	Splice_Site	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1	135011841	522906	246	42347	330	2									
MUC6	4588	broad.mit.edu	37	chr11	1016760	1016760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacttggagtcaccaaggagGtggagaaaggtggaacgtga	13	7	16	5	1	1	2	1	1	0	1	1	6	1	5	1	6	2	0	1	6	4	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:1016760G>T	ENST00000421673.2	-	31	6091	c.6041C>A	c.(6040-6042)aCc>aAc	p.T2014N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2014	Thr-rich.				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)		CACCAAGGAGGTGGAGAAAGG	0.537													65	1034					1.97e-11	2.39149e-11	1	0	T	1016760	G	T	1016760	3	4	232	1	0	0	0	0	1	0	0	0	10050	1261	44	4	1290	4	MUC6	11	1016760	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08		1016760	133989756	247	42348											
CHRNA10	57053	broad.mit.edu	37	chr11	3688905	3688905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catccacgcggcacgagctgCgcgtgatggccggcgcgtcc	5	5	15	16	8	0	1	0	1	0	0	2	2	2	1	3	3	2	2	3	3	0	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:3688905C>G	ENST00000250699.2	-	4	523	c.452G>C	c.(451-453)cGc>cCc	p.R151P	CHRNA10_ENST00000534359.1_5'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	151					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GCACGAGCTGCGCGTGATGGC	0.711													5	17					0	0	0	0	G	3688905	C	G	3688905	3	3	232	1	0	0	0	0	1	0	0	0	3411	768	27	3	908	3	CHRNA10	11	3688905	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	2672145	3688905	131317611	248	42349											
OR51V1	283111	broad.mit.edu	37	chr11	5221655	5221655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgaatgatcccccacaggatCcccagcactgtgtacacagt	11	7	8	15	1	0	1	0	1	0	0	2	3	2	2	4	1	2	2	4	1	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:5221655C>T	ENST00000321255.1	-	1	275	c.276G>A	c.(274-276)ggG>ggA	p.G92G		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACAGGATCCCCAGCACTG	0.547													24	58					0	0	0	0	T	5221655	C	T	5221655	2	4	232	1	0	0	0	0	0	0	0	1	11178	842	30	2		2	OR51V1	11	5221655	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1532750	5221655	129784861	249	42350											
TRIM22	10346	broad.mit.edu	37	chr11	5717794	5717794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcttctgtaaggaggAtggaaaagtcatttgctggg	11	11	13	6	0	3	1	1	0	2	1	3	4	3	4	1	4	1	2	1	4	3	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:5717794A>G	ENST00000379965.3	+	2	609	c.332A>G	c.(331-333)gAt>gGt	p.D111G	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	111					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGTAAGGAGGATGGAAAAGTC	0.483													31	56					0	0	0	0	G	5717794	A	G	5717794	3	3	232	1	0	0	0	0	1	0	0	0	16591	333	12	5	334	5	TRIM22	11	5717794	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	496139	5717794	129288722	250	42351											
OR56A1	120796	broad.mit.edu	37	chr11	6048725	6048725	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagcagggagaggaggctGagcaggtagtacaggggctg	10	5	19	7	0	0	2	0	1	0	1	1	4	1	3	1	6	3	6	1	6	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:6048725G>A	ENST00000316650.5	-	1	246	c.210C>T	c.(208-210)ctC>ctT	p.L70L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGAGGCTGAGCAGGTAGT	0.597													26	70					0	0	0	0	A	6048725	G	A	6048725	2	1	232	1	0	0	0	0	0	0	0	1	11204	1277	45	2		2	OR56A1	11	6048725	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	330931	6048725	128957791	251	42352											
OR6A2	8590	broad.mit.edu	37	chr11	6815970	6815970	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccttctatacatttctgcTagctttcttggggtcaggat	6	17	8	10	0	4	0	1	0	3	0	5	1	5	1	1	3	3	2	1	3	3	7			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:6815970T>C	ENST00000332601.3	-	1	1158	c.970A>G	c.(970-972)Agc>Ggc	p.S324G		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACATTTCTGCTAGCTTTCTTG	0.443													19	81					0	0	0	0	C	6815970	T	C	6815970	3	2	232	1	0	0	0	0	1	0	0	0	11257	1522	53	5	17	5	OR6A2	11	6815970	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	767245	6815970	128190546	252	42353											
PIK3C2A	5286	broad.mit.edu	37	chr11	17169081	17169081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactgttcgggccagattttGacacattgcactgaaggtca	10	12	10	9	1	1	3	1	2	0	1	2	3	1	3	1	2	2	2	1	2	2	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:17169081G>C	ENST00000265970.7	-	5	1542	c.1543C>G	c.(1543-1545)Caa>Gaa	p.Q515E	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q135E|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	515					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GCCAGATTTTGACACATTGCA	0.358													15	43					0	0	0	0	C	17169081	G	C	17169081	3	2	232	1	0	0	0	0	1	0	0	0	11981	1299	45	2	3629	2	PIK3C2A	11	17169081	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	10353111	17169081	117837435	253	42354											
DCDC1	341019	broad.mit.edu	37	chr11	30937083	30937083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcctggtgtatccagcGctgatgactaccatcagatt	8	13	9	11	1	2	3	1	2	1	1	4	3	4	3	3	1	2	2	3	1	2	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:30937083G>A	ENST00000597505.1	-	25	3627	c.3628C>T	c.(3628-3630)Cgc>Tgc	p.R1210C	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.R289C			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTATCCAGCGCTGATGACTA	0.473													20	61					0	0	0	0	A	30937083	G	A	30937083	3	1	232	1	0	0	0	0	1	0	0	0	4316	1102	38	1		1	DCDC1	11	30937083	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	13768002	30937083	104069433	254	42355											
OR4X2	119764	broad.mit.edu	37	chr11	48267094	48267094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgggtgggaggcttcatgCattcctttgcacaaatcctt	8	13	10	10	0	1	0	1	0	0	0	3	1	3	1	2	3	2	3	2	3	1	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:48267094C>T	ENST00000302329.3	+	1	487	c.439C>T	c.(439-441)Cat>Tat	p.H147Y		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCTTCATGCATTCCTTTGC	0.498													68	129					0	0	0	0	T	48267094	C	T	48267094	3	4	232	1	0	0	0	0	1	0	0	0	11156	710	25	4	441	4	OR4X2	11	48267094	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	17330011	48267094	86739422	255	42356											
OR4C46	119749	broad.mit.edu	37	chr11	51515641	51515641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtgatggcctatgaccaCtatgtggccatctgcaagcc	9	10	10	12	0	1	2	0	2	1	0	1	2	1	2	4	2	2	1	4	2	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:51515641C>T	ENST00000328188.1	+	1	360	c.360C>T	c.(358-360)caC>caT	p.H120H		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCTATGACCACTATGTGGCCA	0.488													60	88					0	0	0	0	T	51515641	C	T	51515641	2	4	232	1	0	0	0	0	0	0	0	1	11122	564	20	4		4	OR4C46	11	51515641	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	3248547	51515641	83490875	256	42357											
OR4A16	81327	broad.mit.edu	37	chr11	55110944	55110944	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactctgtgataaaatcgctAtttccttgtcagcttgcatg	9	16	7	9	1	2	1	1	1	1	0	4	1	3	1	1	0	3	3	1	0	4	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:55110944A>G	ENST00000314721.2	+	1	318	c.268A>G	c.(268-270)Att>Gtt	p.I90V		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TAAAATCGCTATTTCCTTGTC	0.438													95	111					0	0	0	0	G	55110944	A	G	55110944	3	3	232	1	0	0	0	0	1	0	0	0	11112	449	16	5	270	5	OR4A16	11	55110944	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	3595303	55110944	79895572	257	42358											
OR5D13	390142	broad.mit.edu	37	chr11	55540998	55540998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagaaatccaggttccaCtctttctggttttcttgttc	7	16	6	12	0	3	1	0	0	3	1	6	1	5	1	3	2	0	3	3	2	1	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:55540998C>A	ENST00000361760.1	+	1	85	c.85C>A	c.(85-87)Ctc>Atc	p.L29I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CCAGGTTCCACTCTTTCTGGT	0.393													56	67					3.53049e-34	5.46859e-34	1	0	A	55540998	C	A	55540998	3	1	232	1	0	0	0	0	1	0	0	0	11225	565	20	4	87	4	OR5D13	11	55540998	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	430054	55540998	79465518	258	42359											
OR5T2	219464	broad.mit.edu	37	chr11	55999771	55999771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaacttggtctcacataCatgaagaggattgtcccata	12	11	9	9	0	1	2	1	1	1	1	3	4	2	4	1	3	2	0	1	3	4	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:55999771C>A	ENST00000313264.4	-	1	966	c.891G>T	c.(889-891)atG>atT	p.M297I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GTCTCACATACATGAAGAGGA	0.423													75	91					7.577e-32	1.15312e-31	1	0	A	55999771	C	A	55999771	3	1	232	1	0	0	0	0	1	0	0	0	11253	478	17	4	187	4	OR5T2	11	55999771	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	458773	55999771	79006745	259	42360											
P2RX3	5024	broad.mit.edu	37	chr11	57114095	57114095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggtaaccaaggtgaaggGctccggactctacgccaaca	11	6	13	11	2	1	1	0	1	1	0	2	2	2	2	3	5	3	2	3	5	5	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:57114095G>T	ENST00000263314.2	+	2	231	c.197G>T	c.(196-198)gGc>gTc	p.G66V		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	66					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						AAGGTGAAGGGCTCCGGACTC	0.547													92	41					4.37026e-21	6.19911e-21	1	0	T	57114095	G	T	57114095	3	4	232	1	0	0	0	0	1	0	0	0	11412	1203	42	4	203	4	P2RX3	11	57114095	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1114324	57114095	77892421	260	42361											
OR4D6	219983	broad.mit.edu	37	chr11	59224522	59224522	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttttcttgtttgtggTcttctttgctgtgtatgtag	3	22	12	4	0	3	0	0	0	3	0	3	1	3	1	0	2	1	5	0	2	2	8			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:59224522T>A	ENST00000300127.2	+	1	112	c.89T>A	c.(88-90)gTc>gAc	p.V30D		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TTGTTTGTGGTCTTCTTTGCT	0.463													92	119					0	0	0	0	A	59224522	T	A	59224522	3	1	232	1	0	0	0	0	1	0	0	0	11129	1667	58	5	91	5	OR4D6	11	59224522	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	2110427	59224522	75781994	261	42362											
RELA	5970	broad.mit.edu	37	chr11	65422031	65422031	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggtactccatcagcaTgggctcagttgtgtgggggg	6	10	16	9	0	3	0	3	0	0	0	4	0	4	0	1	5	2	4	1	5	1	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:65422031T>G	ENST00000406246.3	-	11	1735	c.1474A>C	c.(1474-1476)Atg>Ctg	p.M492L	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Missense_Mutation_p.M489L	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	492					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TCCATCAGCATGGGCTCAGTT	0.637													34	138					0	0	0	0	G	65422031	T	G	65422031	3	3	232	1	0	0	0	0	1	0	0	0	13298	1464	51	5	185	5	RELA	11	65422031	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	6197509	65422031	69584485	262	42363											
EFEMP2	30008	broad.mit.edu	37	chr11	65638688	65638688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggggttggggtgttgagCgggaggcactggtggcgggg	4	7	25	5	2	0	1	0	1	0	0	0	2	0	2	0	10	1	4	0	10	0	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:65638688C>T	ENST00000307998.6	-	4	537	c.307G>A	c.(307-309)Gct>Act	p.A103T	EFEMP2_ENST00000528176.1_Missense_Mutation_p.A103T	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	103				AQHPNPCPP -> VNTQPLPT (in Ref. 2; AAC62108).	blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGGTGTTGAGCGGGAGGCACT	0.652													35	121					0	0	0	0	T	65638688	C	T	65638688	3	4	232	1	0	0	0	0	1	0	0	0	4978	768	27	1	1056	1	EFEMP2	11	65638688	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	216657	65638688	69367828	263	42364											
CLPB	81570	broad.mit.edu	37	chr11	72004448	72004448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcagggtgcagtggtGcccggatgtccagtctgcga	5	10	14	12	2	2	0	1	0	2	0	4	2	3	1	3	3	3	1	3	3	0	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:72004448G>A	ENST00000294053.3	-	17	2260	c.2087C>T	c.(2086-2088)gCa>gTa	p.A696V	CLPB_ENST00000538021.1_Missense_Mutation_p.A304V|CLPB_ENST00000340729.5_Missense_Mutation_p.A637V|CLPB_ENST00000538039.1_Missense_Mutation_p.A666V|CLPB_ENST00000543042.1_Missense_Mutation_p.A495V|CLPB_ENST00000437826.2_Missense_Mutation_p.A651V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	696					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GTGCAGTGGTGCCCGGATGTC	0.602													36	153					0	0	0	0	A	72004448	G	A	72004448	3	1	232	1	0	0	0	0	1	0	0	0	3581	1319	46	4	40	4	CLPB	11	72004448	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	6365760	72004448	63002068	264	42365											
TYR	7299	broad.mit.edu	37	chr11	88911460	88911460	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggggaccaaactgcacAgagagacgactcttggtgag	11	9	13	8	1	1	3	0	1	1	2	1	6	1	4	1	3	2	1	1	3	1	3	rs61753255		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:88911460A>C	ENST00000263321.5	+	1	841	c.339A>C	c.(337-339)acA>acC	p.T113T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	113					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CAAACTGCACAGAGAGACGAC	0.463													27	39					0	0	0	0	C	88911460	A	C	88911460	2	2	232	1	0	0	0	0	0	0	0	1	16909	175	7	5		5	TYR	11	88911460	Silent	SNP	A	TCGA-CV-5441-01A-01D-1512-08	16907012	88911460	46095056	265	42366											
GRIA4	2893	broad.mit.edu	37	chr11	105623920	105623920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactacgaatggaactgttTtgtcttcctgtatgacacag	10	14	8	9	1	2	1	1	1	1	0	3	3	3	2	1	1	2	2	1	1	4	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:105623920T>C	ENST00000393127.2	+	4	907	c.461T>C	c.(460-462)tTt>tCt	p.F154S	GRIA4_ENST00000282499.5_Missense_Mutation_p.F154S|GRIA4_ENST00000428631.2_Missense_Mutation_p.F154S|GRIA4_ENST00000525187.1_Missense_Mutation_p.F154S|GRIA4_ENST00000530497.1_Missense_Mutation_p.F154S|GRIA4_ENST00000393125.2_Missense_Mutation_p.F154S	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	154					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TGGAACTGTTTTGTCTTCCTG	0.433													46	58					0	0	0	0	C	105623920	T	C	105623920	3	2	232	1	0	0	0	0	1	0	0	0	6820	1841	64	5	471	5	GRIA4	11	105623920	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	16712460	105623920	29382596	266	42367											
OR8D4	338662	broad.mit.edu	37	chr11	123777721	123777721	+	Frame_Shift_Del	DEL	G	G	-																															cctgctccagcacttatattGatgagcttttgatttttgtc																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:123777721delG	ENST00000321355.2	+	1	613	c.583delG	c.(583-585)atfs	p.D195fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CACTTATATTGATGAGCTTTT	0.373													91	107	---	---	---	---					-	123777721	G	-	123777721	7	5	232	1	0	1	0	1	0	0	0	0	11304	1290	45	0	585	0	OR8D4	11	123777721	Frame_Shift_Del	DEL	G	TCGA-CV-5441-01A-01D-1512-08	18153801	123777721	11228795	267	42368											
WNK1	65125	broad.mit.edu	37	chr12	993327	993327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcaagttgttcattctgcGggaaggcggtttatagtgag	9	13	13	6	2	3	1	2	1	1	0	3	2	3	2	0	3	1	3	0	3	4	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:993327G>A	ENST00000537687.1	+	18	5185	c.4542G>A	c.(4540-4542)gcG>gcA	p.A1514A	WNK1_ENST00000315939.6_Silent_p.A1254A|WNK1_ENST00000340908.4_Silent_p.A847A|WNK1_ENST00000530271.2_Silent_p.A1752A|WNK1_ENST00000535572.1_Silent_p.A1007A	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1254					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCATTCTGCGGGAAGGCGGT	0.373													62	137					0	0	0	0	A	993327	G	A	993327	2	1	232	1	0	0	0	0	0	0	0	1	17473	1103	39	1		1	WNK1	12	993327	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08		993327	132858568	268	42369											
C1R	715	broad.mit.edu	37	chr12	7241888	7241888	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaggggtaggacggctgtaCctgtagctggtcataggggc	7	9	17	8	1	2	0	2	0	0	0	2	1	2	1	1	7	2	5	1	7	4	4	rs112305412		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:7241888C>T	ENST00000542285.1	-	5	915		c.e5+1					P00736	C1R_HUMAN	complement component 1, r subcomponent						complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACGGCTGTACCTGTAGCTGG	0.592													13	20					0	0	0	0	T	7241888	C	T	7241888	5	4	232	1	0	0	0	0	0	0	1	0	1991	521	18	4	1055	4	C1R	12	7241888	Splice_Site	SNP	C	TCGA-CV-5441-01A-01D-1512-08	6248561	7241888	126610007	269	42370											
SLC2A3	6515	broad.mit.edu	37	chr12	8083212	8083212	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcggccatagctcttcagaCccaaggatgaattccagacc	12	7	9	13	1	2	3	1	1	1	2	3	4	3	4	4	2	2	1	4	2	3	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:8083212C>A	ENST00000075120.7	-	5	777	c.537G>T	c.(535-537)ggG>ggT	p.G179G		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	179					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GCTCTTCAGACCCAAGGATGA	0.433													25	92					5.45024e-15	6.9054e-15	1	0	A	8083212	C	A	8083212	2	1	232	1	0	0	0	0	0	0	0	1	14633	494	18	4		4	SLC2A3	12	8083212	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	841324	8083212	125768683	270	42371											
PHC1	1911	broad.mit.edu	37	chr12	9089872	9089872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcaggcgtggaccccgcCgcagctcctctgacattgcc	5	8	11	17	4	1	1	0	1	1	0	3	2	2	2	5	2	2	3	5	2	0	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:9089872C>T	ENST00000433083.2	+	12	2588	c.2443C>T	c.(2443-2445)Cgc>Tgc	p.R815C	PHC1_ENST00000544916.1_Missense_Mutation_p.R860C|PHC1_ENST00000543824.1_Missense_Mutation_p.R860C|PHC1_ENST00000536844.1_Missense_Mutation_p.R466C			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	860					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						TGGACCCCGCCGCAGCTCCTC	0.522													5	11					0	0	0	0	T	9089872	C	T	9089872	3	4	232	1	0	0	0	0	1	0	0	0	11888	652	23	1	2624	1	PHC1	12	9089872	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1006660	9089872	124762023	271	42372											
KLRC3	3823	broad.mit.edu	37	chr12	10569334	10569334	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgttacgaaacacaccaatCcatgaggaaggtaaaatgct	16	8	8	9	1	0	1	0	1	0	0	1	3	1	2	2	2	3	3	2	2	6	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:10569334C>T	ENST00000396439.2	-	5	563	c.519G>A	c.(517-519)tgG>tgA	p.W173*	KLRC3_ENST00000381903.2_Nonsense_Mutation_p.W173*|KLRC3_ENST00000381904.2_Nonsense_Mutation_p.W173*|NKG2-E_ENST00000539033.1_Nonsense_Mutation_p.W173*	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACACACCAATCCATGAGGAAG	0.289													25	41					0	0	0	0	T	10569334	C	T	10569334	4	4	232	1	0	0	0	0	0	1	0	0	8469	856	30	2	311	2	KLRC3	12	10569334	Nonsense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1479462	10569334	123282561	272	42373											
TAS2R43	259289	broad.mit.edu	37	chr12	11244286	11244286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggtactaagtttgctacCatggttacagtcatatttga	12	14	9	6	0	1	1	1	1	0	0	1	1	1	1	1	2	4	4	1	2	6	7			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:11244286C>T	ENST00000531678.1	-	1	626	c.543G>A	c.(541-543)atG>atA	p.M181I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	181					detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AGTTTGCTACCATGGTTACAG	0.368													59	50					0	0	0	0	T	11244286	C	T	11244286	3	4	232	1	0	0	0	0	1	0	0	0	15672	594	21	4	390	4	TAS2R43	12	11244286	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	674952	11244286	122607609	273	42374											
PRB1	5542	broad.mit.edu	37	chr12	11506794	11506794	+	Silent	SNP	G	G	T																															cgggacttgtccccttgtggGggtggtccttgtggctttcc																								rs142774972		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:11506794G>T	ENST00000500254.2	-	3	280	c.243C>A	c.(241-243)ccC>ccA	p.P81P	PRB1_ENST00000545626.1_Silent_p.P81P|PRB1_ENST00000546254.1_Silent_p.P81P	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	264	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCCCTTGTGGGGGTGGTCCTT	0.627													158	365					6.72002e-22	9.63695e-22	1	0	T	11506794	G	T	11506794	2	4	232	1	0	0	0	0	0	0	0	1	12522	1219	43	4		4	PRB1	12	11506794	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	262508	11506794	122345101	274	42375	331	2									
PRB1	5542	broad.mit.edu	37	chr12	11506795	11506795	+	Missense_Mutation	SNP	G	G	T																															gggacttgtccccttgtgggGgtggtccttgtggctttcct																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:11506795G>T	ENST00000500254.2	-	3	279	c.242C>A	c.(241-243)cCc>cAc	p.P81H	PRB1_ENST00000545626.1_Missense_Mutation_p.P81H|PRB1_ENST00000546254.1_Missense_Mutation_p.P81H	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	264	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCCTTGTGGGGGTGGTCCTTG	0.627													157	363					3.95789e-20	5.50938e-20	1	0	T	11506795	G	T	11506795	3	4	232	1	0	0	0	0	1	0	0	0	12522	1232	43	4	757	4	PRB1	12	11506795	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1	11506795	122345100	275	42376	331	2									
SLCO1A2	6579	broad.mit.edu	37	chr12	21472443	21472443	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtaggatgctctgcaaccCttgagctcagcaatcccagt	10	10	9	12	0	2	1	1	1	1	0	3	2	3	2	2	1	5	5	2	1	4	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:21472443C>A	ENST00000390670.3	-	0	154				SLCO1A2_ENST00000452078.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000473830.1_Intron			P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2						bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ctctgcaacccttgagctcag	0.438													9	25					0.000274275	0.000288652	1	0	A	21472443	C	A	21472443	1	1	232	1	0	0	0	0	0	0	0	0	14810	696	24	4		4	SLCO1A2	12	21472443	Translation_Start_Site	SNP	C	TCGA-CV-5441-01A-01D-1512-08	9965648	21472443	112379452	276	42377											
ABCC9	10060	broad.mit.edu	37	chr12	21970133	21970133	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatacccattgtgccttCatagttctctgactccatag	10	13	6	12	0	2	1	1	1	1	0	4	1	3	1	3	0	3	2	3	0	4	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:21970133C>A	ENST00000261200.4	-	31	3879	c.3880G>T	c.(3880-3882)Gaa>Taa	p.E1294*	ABCC9_ENST00000261201.4_Nonsense_Mutation_p.E1294*|ABCC9_ENST00000345162.2_Nonsense_Mutation_p.E1258*	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1294					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATTGTGCCTTCATAGTTCTCT	0.378													75	204					1.42748e-55	2.38828e-55	1	0	A	21970133	C	A	21970133	4	1	232	1	0	0	0	0	0	1	0	0	59	835	29	2	943	2	ABCC9	12	21970133	Nonsense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	497690	21970133	111881762	277	42378											
SYT10	341359	broad.mit.edu	37	chr12	33538213	33538213	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaacatgatttcacccAggtctatactttcctagaaa	14	11	7	9	0	2	2	1	1	1	1	3	3	3	3	2	2	2	0	2	2	6	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:33538213A>C	ENST00000228567.3	-	4	1387	c.1091T>G	c.(1090-1092)cTg>cGg	p.L364R	SYT10_ENST00000535526.1_Missense_Mutation_p.L183R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	364						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GATTTCACCCAGGTCTATACT	0.398													15	40					0	0	0	0	C	33538213	A	C	33538213	3	2	232	1	0	0	0	0	1	0	0	0	15557	188	7	5	496	5	SYT10	12	33538213	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	11568080	33538213	100313682	278	42379											
KRT72	140807	broad.mit.edu	37	chr12	52979793	52979793	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctttttggtggcacaGctgctccccgaggttttggc	4	12	14	11	1	0	0	0	0	0	0	1	2	1	0	3	5	2	4	3	5	0	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:52979793G>A	ENST00000293745.2	-	9	1594	c.1509C>T	c.(1507-1509)agC>agT	p.S503S	KRT72_ENST00000354310.4_Silent_p.S461S|KRT72_ENST00000398066.3_Silent_p.S315S|KRT72_ENST00000537672.2_Silent_p.S503S	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	503	Tail.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGGTGGCACAGCTGCTCCCCG	0.562													98	202					0	0	0	0	A	52979793	G	A	52979793	2	1	232	1	0	0	0	0	0	0	0	1	8537	962	34	4		4	KRT72	12	52979793	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	19441580	52979793	80872102	279	42380											
NCKAP1L	3071	broad.mit.edu	37	chr12	54913116	54913116	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgatctgtctactttctGgtatgtcttggttcagagct	5	19	9	8	0	6	2	1	1	5	1	6	2	6	2	0	2	2	3	0	2	2	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:54913116G>T	ENST00000293373.6	+	16	1704	c.1625_splice	c.e16+1	p.C542_splice	NCKAP1L_ENST00000545638.2_Splice_Site_p.C492_splice	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	542					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCTACTTTCTGGTATGTCTTG	0.368													49	104					1.5774e-09	1.83795e-09	1	0	T	54913116	G	T	54913116	5	4	232	1	0	0	0	0	0	0	1	0	10292	1362	47	4	1687	4	NCKAP1L	12	54913116	Splice_Site	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1933323	54913116	78938779	280	42381											
MMP19	4327	broad.mit.edu	37	chr12	56232343	56232343	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggcctcaggatcagcAggctgcccccaccgcctgcc	6	5	11	19	1	2	0	2	0	0	0	3	1	3	1	7	3	3	2	7	3	0	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:56232343A>C	ENST00000409200.3	-	5	801	c.696T>G	c.(694-696)ccT>ccG	p.P232P	MMP19_ENST00000322569.4_Intron|MMP19_ENST00000548629.1_Intron			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	429					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CAGGATCAGCAGGCTGCCCCC	0.582													20	37					0	0	0	0	C	56232343	A	C	56232343	2	2	232	1	0	0	0	0	0	0	0	1	9726	203	7	5		5	MMP19	12	56232343	Silent	SNP	A	TCGA-CV-5441-01A-01D-1512-08	1319227	56232343	77619552	281	42382											
SMARCC2	6601	broad.mit.edu	37	chr12	56566376	56566376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgcacctcctaccttggagGgaacattcttttttgtgtac	7	14	8	12	1	1	0	0	0	1	0	2	2	2	2	4	2	3	2	4	2	3	7			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:56566376G>A	ENST00000394023.3	-	19	1961	c.1856C>T	c.(1855-1857)cCc>cTc	p.P619L	SMARCC2_ENST00000550164.1_Missense_Mutation_p.P619L|SMARCC2_ENST00000267064.4_Missense_Mutation_p.P588L|SMARCC2_ENST00000347471.4_Missense_Mutation_p.P619L|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	588	SANT.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TACCTTGGAGGGAACATTCTT	0.502													46	100					0	0	0	0	A	56566376	G	A	56566376	3	1	232	1	0	0	0	0	1	0	0	0	14864	1232	43	4	1925	4	SMARCC2	12	56566376	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	334033	56566376	77285519	282	42383											
NACA	4666	broad.mit.edu	37	chr12	57112598	57112604	+	Frame_Shift_Del	DEL	TGGGTGC	TGGGTGC	-																															ggatagagcaggagcctgttTgggtgctggagtagctggac																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:57112598_57112604delTGGGTGC	ENST00000454682.1	-	3	2991_2997	c.2710_2716delGCACCCA	c.(2710-2718)aafs	p.APK904fs	NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGAGCCTGTTTGGGTGCTGGAGTAGCT	0.575			T	BCL6	NHL								12	47	---	---	---	---					-	57112604	TGGGTGC	-	57112598	7	5	232	1	0	1	0	1	0	0	0	0	10203	1821	63	0	3548	0	NACA	12	57112598	Frame_Shift_Del	DEL	TGGGTGC	TCGA-CV-5441-01A-01D-1512-08	546222	57112598	76739297	283	42384											
DTX3	196403	broad.mit.edu	37	chr12	58001107	58001107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcttcctcctcgccttcGggaggaggcagaagagcagg	8	7	13	13	2	1	2	0	0	1	2	5	4	3	4	4	4	1	2	4	4	1	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:58001107G>T	ENST00000548198.1	+	3	1965	c.461G>T	c.(460-462)cGg>cTg	p.R154L	DTX3_ENST00000551632.1_Missense_Mutation_p.R157L|DTX3_ENST00000337737.3_Missense_Mutation_p.R154L|DTX3_ENST00000548804.1_Missense_Mutation_p.R154L			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	154					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					cctcgccttcGGGAGGAGGCA	0.672													5	21					1.23904e-05	1.35309e-05	1	0	T	58001107	G	T	58001107	3	4	232	1	0	0	0	0	1	0	0	0	4831	1116	39	3	467	3	DTX3	12	58001107	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	888509	58001107	75850788	284	42385											
TRHDE	29953	broad.mit.edu	37	chr12	72955994	72955994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccagaaatgatctctGgaatacattatcggaggtaa	14	10	10	7	1	1	2	0	1	1	1	3	4	1	4	1	3	3	2	1	3	5	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:72955994G>T	ENST00000261180.4	+	8	1799	c.1703G>T	c.(1702-1704)tGg>tTg	p.W568L	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	568					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AATGATCTCTGGAATACATTA	0.289													26	37					0.000227799	0.000241689	1	0	T	72955994	G	T	72955994	3	4	232	1	0	0	0	0	1	0	0	0	16574	1357	47	4	1733	4	TRHDE	12	72955994	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	14954887	72955994	60895901	285	42386											
CAPS2	84698	broad.mit.edu	37	chr12	75692714	75692714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcatgagtgaaaaagaacCcaatgagctctctgcaagca	15	7	10	9	0	2	4	1	3	1	1	3	4	2	4	1	1	4	3	1	1	5	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:75692714C>A	ENST00000393284.3	-	10	849	c.248G>T	c.(247-249)gGg>gTg	p.G83V	CAPS2_ENST00000409445.3_Missense_Mutation_p.G315V|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409004.1_Intron			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	315							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GAAAAAGAACCCAATGAGCTC	0.313													23	47					1.10513e-12	1.36057e-12	1	0	A	75692714	C	A	75692714	3	1	232	1	0	0	0	0	1	0	0	0	2663	623	22	4	761	4	CAPS2	12	75692714	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	2736720	75692714	58159181	286	42387											
PLEKHG7	440107	broad.mit.edu	37	chr12	93134644	93134644	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagatctttatgaatacaCtaagatatctgcaaactcat	17	12	4	8	0	3	3	1	1	2	2	3	3	3	3	0	0	3	1	0	0	7	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:93134644C>A	ENST00000344636.3	+	3	203	c.19C>A	c.(19-21)Cta>Ata	p.L7I	PLEKHG7_ENST00000549856.1_Missense_Mutation_p.L7I	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	7	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TATGAATACACTAAGATATCT	0.313													26	53					2.27525e-19	3.12548e-19	1	0	A	93134644	C	A	93134644	3	1	232	1	0	0	0	0	1	0	0	0	12147	564	20	4	25	4	PLEKHG7	12	93134644	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	17441930	93134644	40717251	287	42388											
ANO4	121601	broad.mit.edu	37	chr12	101365164	101365164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagatatgcagaacaaatGaatgtaagaatgcctttcag	17	9	10	5	0	1	4	1	1	0	3	1	5	1	5	1	1	3	2	1	1	7	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:101365164G>A	ENST00000392979.3	+	5	793	c.432G>A	c.(430-432)atG>atA	p.M144I	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.M179I|ANO4_ENST00000538618.1_Missense_Mutation_p.M345I	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	179						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAGAACAAATGAATGTAAGAA	0.368										HNSCC(74;0.22)			37	74					0	0	0	0	A	101365164	G	A	101365164	3	1	232	1	0	0	0	0	1	0	0	0	698	1290	45	2	446	2	ANO4	12	101365164	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	8230520	101365164	32486731	288	42389											
FOXN4	121643	broad.mit.edu	37	chr12	109723196	109723196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcttgtcgatgcgggccaGgttcagagcccacaggcagc	8	7	13	13	2	2	1	1	0	1	1	3	2	2	1	2	3	3	2	2	3	0	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:109723196G>T	ENST00000299162.5	-	8	918	c.814C>A	c.(814-816)Ctg>Atg	p.L272M	FOXN4_ENST00000355216.1_Missense_Mutation_p.L92M	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	272					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						ATGCGGGCCAGGTTCAGAGCC	0.607													16	31					0.00074312	0.000775817	1	0	T	109723196	G	T	109723196	3	4	232	1	0	0	0	0	1	0	0	0	6069	991	35	4	751	4	FOXN4	12	109723196	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	8358032	109723196	24128699	289	42390											
RASAL1	8437	broad.mit.edu	37	chr12	113543660	113543660	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgaacaatggccgagggCgggaacagggccctggctgg	8	5	17	11	3	1	0	0	0	1	0	2	3	1	1	2	6	2	1	2	6	3	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:113543660C>A	ENST00000546530.1	-	17	1977	c.1692G>T	c.(1690-1692)ccG>ccT	p.P564P	RASAL1_ENST00000548055.1_Silent_p.P563P|RASAL1_ENST00000261729.5_Silent_p.P562P|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Silent_p.P562P	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	562					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGGCCGAGGGCGGGAACAGGG	0.622													31	99					1.61788e-16	2.08527e-16	1	0	A	113543660	C	A	113543660	2	1	232	1	0	0	0	0	0	0	0	1	13145	755	27	3		3	RASAL1	12	113543660	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	3820464	113543660	20308235	290	42391											
SLC15A4	121260	broad.mit.edu	37	chr12	129294620	129294620	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacatgaatcaaacagactTtgtttagaagattgctgaaa	16	13	7	5	0	1	5	1	2	0	3	1	5	1	5	0	0	3	2	0	0	6	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:129294620T>C	ENST00000266771.5	-	3	918	c.879A>G	c.(877-879)caA>caG	p.Q293Q	SLC15A4_ENST00000544112.1_5'UTR|SLC15A4_ENST00000539703.1_Intron	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	293					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CAAACAGACTTTGTTTAGAAG	0.393													46	93					0	0	0	0	C	129294620	T	C	129294620	2	2	232	1	0	0	0	0	0	0	0	1	14489	1838	64	5		5	SLC15A4	12	129294620	Silent	SNP	T	TCGA-CV-5441-01A-01D-1512-08	15750960	129294620	4557275	291	42392											
GLT1D1	144423	broad.mit.edu	37	chr12	129360582	129360582	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgccctggctcttcatctCtataggggaggcaggctttt	5	13	12	11	0	3	0	1	0	2	0	4	1	3	1	1	5	1	4	1	5	2	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:129360582C>G	ENST00000442111.2	+	2	280	c.192C>G	c.(190-192)ctC>ctG	p.L64L	GLT1D1_ENST00000281703.6_Silent_p.L64L|GLT1D1_ENST00000537468.1_Silent_p.L53L|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	64					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTCTTCATCTCTATAGGGGAG	0.448													82	183					0	0	0	0	G	129360582	C	G	129360582	2	3	232	1	0	0	0	0	0	0	0	1	6516	900	32	2		2	GLT1D1	12	129360582	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	65962	129360582	4491313	292	42393											
TMEM132D	121256	broad.mit.edu	37	chr12	130185032	130185032	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcgatggagaaaggcccGtagctggcattgaggacagg	10	7	16	8	2	0	2	0	1	0	1	1	5	0	3	1	5	2	4	1	5	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:130185032G>A	ENST00000422113.2	-	2	617	c.291C>T	c.(289-291)taC>taT	p.Y97Y		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	97						integral to membrane		p.Y97Y(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGAAAGGCCCGTAGCTGGCAT	0.488													30	52					0	0	0	0	A	130185032	G	A	130185032	2	1	232	1	0	0	0	0	0	0	0	1	16141	1140	40	1		1	TMEM132D	12	130185032	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	824450	130185032	3666863	293	42394											
POLE	5426	broad.mit.edu	37	chr12	133212601	133212601	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaatggaaggtctccttTgaatggatgctgcagaggaa	13	9	14	5	0	1	3	0	1	1	2	2	7	1	6	1	4	2	2	1	4	4	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:133212601T>C	ENST00000320574.5	-	42	5731	c.5688A>G	c.(5686-5688)tcA>tcG	p.S1896S	POLE_ENST00000434528.3_5'UTR|POLE_ENST00000535270.1_Silent_p.S1869S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1896					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGGTCTCCTTTGAATGGATGC	0.428								DNA polymerases (catalytic subunits)					25	57					0	0	0	0	C	133212601	T	C	133212601	2	2	232	1	0	0	0	0	0	0	0	1	12268	1799	63	5		5	POLE	12	133212601	Silent	SNP	T	TCGA-CV-5441-01A-01D-1512-08	3027569	133212601	639294	294	42395											
ATP8A2	51761	broad.mit.edu	37	chr13	26542750	26542750	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaagacattgctggaggagGtgcaggagctggaaaccaag	15	5	15	6	0	0	1	0	0	0	1	0	5	0	5	1	5	4	3	1	5	4	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:26542750G>C	ENST00000381655.2	+	35	3452	c.3310G>C	c.(3310-3312)Gtg>Ctg	p.V1104L	ATP8A2_ENST00000255283.8_Missense_Mutation_p.V1039L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1064					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCTGGAGGAGGTGCAGGAGCT	0.522													6	11					0	0	0	0	C	26542750	G	C	26542750	3	2	232	1	0	0	0	0	1	0	0	0	1197	1261	44	4	3448	4	ATP8A2	13	26542750	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08		26542750	88627128	295	42396											
KBTBD6	89890	broad.mit.edu	37	chr13	41706215	41706215	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagcatgtcggaggccgcgtAcaggcgctccacgttggcct	6	8	14	13	5	0	0	0	0	0	0	2	1	1	1	3	4	2	4	3	4	2	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:41706215A>T	ENST00000379485.1	-	1	667	c.433T>A	c.(433-435)Tac>Aac	p.Y145N	KBTBD6_ENST00000499385.2_Missense_Mutation_p.Y79N	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	145							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GAGGCCGCGTACAGGCGCTCC	0.597													35	40					0	0	0	0	T	41706215	A	T	41706215	3	4	232	1	0	0	0	0	1	0	0	0	8050	391	14	5	1595	5	KBTBD6	13	41706215	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	15163465	41706215	73463663	296	42397											
PCDH17	27253	broad.mit.edu	37	chr13	58208987	58208987	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaaatgatatcatgctGgtgcagagcgaagtggagga	16	7	13	5	1	1	2	1	1	0	1	1	5	1	4	0	3	4	2	0	3	5	1	rs77228191	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:58208987G>T	ENST00000377918.3	+	1	2333	c.2307G>T	c.(2305-2307)ctG>ctT	p.L769L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	769					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATATCATGCTGGTGCAGAGCG	0.572													19	25					8.00594e-06	8.85403e-06	1	0	T	58208987	G	T	58208987	2	4	232	1	0	0	0	0	0	0	0	1	11583	1335	47	4		4	PCDH17	13	58208987	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	16502772	58208987	56960891	297	42398											
KLHL1	57626	broad.mit.edu	37	chr13	70549883	70549883	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatagaattcttcagagctActggagtccaaatcactttg	12	13	8	8	0	3	3	2	1	1	2	4	4	4	4	1	1	2	1	1	1	4	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:70549883A>G	ENST00000377844.4	-	2	1308	c.549T>C	c.(547-549)agT>agC	p.S183S	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	183					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTCAGAGCTACTGGAGTCCA	0.403													45	54					0	0	0	0	G	70549883	A	G	70549883	2	3	232	1	0	0	0	0	0	0	0	1	8417	388	14	5		5	KLHL1	13	70549883	Silent	SNP	A	TCGA-CV-5441-01A-01D-1512-08	12340896	70549883	44619995	298	42399											
NALCN	259232	broad.mit.edu	37	chr13	101910914	101910914	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacatgtggaaaacggatgaCcgcatcattttctgaggggg	12	9	13	7	2	2	2	1	2	1	0	2	4	2	4	1	4	2	1	1	4	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:101910914C>T	ENST00000251127.6	-	11	1227	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	NALCN_ENST00000376196.3_Silent_p.R382R|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	382						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAACGGATGACCGCATCATTT	0.463													12	20					0	0	0	0	T	101910914	C	T	101910914	2	4	232	1	0	0	0	0	0	0	0	1	10218	494	18	4		4	NALCN	13	101910914	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	31361031	101910914	13258964	299	42400											
MMP14	4323	broad.mit.edu	37	chr14	23313040	23313040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgacgggaactttgaCaccgtggccatgctccgagg	8	9	13	11	3	1	2	0	2	1	0	2	4	2	3	3	3	2	1	3	3	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:23313040C>T	ENST00000311852.6	+	6	1233	c.972C>T	c.(970-972)gaC>gaT	p.D324D	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	324	Hemopexin-like 1.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		GGAACTTTGACACCGTGGCCA	0.557													51	153					0	0	0	0	T	23313040	C	T	23313040	2	4	232	1	0	0	0	0	0	0	0	1	9722	477	17	4		4	MMP14	14	23313040	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08		23313040	84036500	300	42401											
NYNRIN	57523	broad.mit.edu	37	chr14	24884816	24884816	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaccgcctgctcaccccCgcggcctccatgcctcgctt	5	7	9	20	4	1	1	1	0	0	1	3	2	2	1	7	1	3	2	7	1	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:24884816C>G	ENST00000382554.3	+	9	4179	c.3861C>G	c.(3859-3861)ccC>ccG	p.P1287P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1287					DNA integration	integral to membrane	DNA binding	p.P1287P(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCTCACCCCCGCGGCCTCCA	0.622													38	89					0	0	0	0	G	24884816	C	G	24884816	2	3	232	1	0	0	0	0	0	0	0	1	10867	639	23	3		3	NYNRIN	14	24884816	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1571776	24884816	82464724	301	42402											
PRKD1	5587	broad.mit.edu	37	chr14	30066892	30066892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcaggagccaggtaagcggGggtacccaccactgacctcc	9	5	12	15	1	1	1	1	1	0	0	2	2	2	2	5	4	3	2	5	4	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:30066892G>T	ENST00000331968.5	-	16	2468	c.2239C>A	c.(2239-2241)Ccc>Acc	p.P747T	PRKD1_ENST00000415220.2_Missense_Mutation_p.P755T	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	747	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGGTAAGCGGGGGTACCCACC	0.493													39	84					7.05121e-23	1.01959e-22	1	0	T	30066892	G	T	30066892	3	4	232	1	0	0	0	0	1	0	0	0	12598	1232	43	4	511	4	PRKD1	14	30066892	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	5182076	30066892	77282648	302	42403											
NPAS3	64067	broad.mit.edu	37	chr14	34269516	34269516	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcatctggaactaccCgcccaaccgggagatctcca	11	5	9	16	2	2	1	0	0	2	1	3	3	2	2	4	2	5	2	4	2	3	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:34269516C>A	ENST00000346562.2	+	11	1981	c.1907C>A	c.(1906-1908)cCg>cAg	p.P636Q	NPAS3_ENST00000548645.1_Missense_Mutation_p.P638Q|NPAS3_ENST00000551492.1_Missense_Mutation_p.P673Q|NPAS3_ENST00000356141.4_Missense_Mutation_p.P668Q|NPAS3_ENST00000357798.5_Missense_Mutation_p.P655Q	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGGAACTACCCGCCCAACCGG	0.622													29	85					2.85442e-18	3.79136e-18	1	0	A	34269516	C	A	34269516	3	1	232	1	0	0	0	0	1	0	0	0	10634	652	23	3	2104	3	NPAS3	14	34269516	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	4202624	34269516	73080024	303	42404											
MDGA2	161357	broad.mit.edu	37	chr14	47530772	47530772	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtgatccaaaatcgtcctTtttttaatgctacaacataa	13	15	5	8	1	0	1	0	1	0	0	3	1	2	1	2	0	3	1	2	0	6	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:47530772T>A	ENST00000426342.1	-	7	1057	c.311A>T	c.(310-312)aAa>aTa	p.K104I	MDGA2_ENST00000357362.3_Missense_Mutation_p.K104I|MDGA2_ENST00000399232.2_Missense_Mutation_p.K402I|MDGA2_ENST00000439988.2_Missense_Mutation_p.K333I	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	333	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAATCGTCCTTTTTTTAATGC	0.348													12	35					0	0	0	0	A	47530772	T	A	47530772	3	1	232	1	0	0	0	0	1	0	0	0	9476	1841	64	5	1916	5	MDGA2	14	47530772	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	13261256	47530772	59818768	304	42405											
WDHD1	11169	broad.mit.edu	37	chr14	55448358	55448358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tataggagtccacgtattacCaagtcctctgttaagcattc	11	13	7	10	1	1	0	0	0	1	0	4	1	3	1	3	1	2	3	3	1	6	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:55448358C>A	ENST00000360586.3	-	16	2028	c.1963G>T	c.(1963-1965)Ggt>Tgt	p.G655C	WDHD1_ENST00000421192.1_Missense_Mutation_p.G532C|WDHD1_ENST00000420358.2_Missense_Mutation_p.G532C|WDHD1_ENST00000359167.4_Missense_Mutation_p.G173C	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	655						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CACGTATTACCAAGTCCTCTG	0.413													25	68					3.28513e-13	4.06359e-13	1	0	A	55448358	C	A	55448358	3	1	232	1	0	0	0	0	1	0	0	0	17367	594	21	4	1470	4	WDHD1	14	55448358	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	7917586	55448358	51901182	305	42406											
MTHFD1	4522	broad.mit.edu	37	chr14	64891613	64891613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcactcctgttcctggCggcgtagggcccatgacagt	6	11	11	13	2	2	1	2	1	0	0	4	1	4	1	3	3	0	2	3	3	1	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:64891613C>T	ENST00000555709.1	+	9	1206	c.819C>T	c.(817-819)ggC>ggT	p.G273G	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000555252.1_Silent_p.G253G|MTHFD1_ENST00000216605.7_Silent_p.G329G|MTHFD1_ENST00000545908.1_Silent_p.G329G	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	273	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.|Substrate binding.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTGTTCCTGGCGGCGTAGGGC	0.458													20	56					0	0	0	0	T	64891613	C	T	64891613	2	4	232	1	0	0	0	0	0	0	0	1	9997	755	27	1		1	MTHFD1	14	64891613	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	9443255	64891613	42457927	306	42407											
SLC8A3	6547	broad.mit.edu	37	chr14	70633591	70633591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtaactgtggccacacAaggggaggctaggacagccc	11	5	15	10	0	0	0	0	0	0	0	0	3	0	2	2	6	2	2	2	6	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:70633591A>G	ENST00000381269.2	-	2	2302	c.1549T>C	c.(1549-1551)Tgt>Cgt	p.C517R	SLC8A3_ENST00000528359.1_Missense_Mutation_p.C517R|SLC8A3_ENST00000357887.3_Missense_Mutation_p.C517R|SLC8A3_ENST00000534137.1_Missense_Mutation_p.C517R|SLC8A3_ENST00000356921.2_Missense_Mutation_p.C517R	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	517					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTGGCCACACAAGGGGAGGCT	0.502													27	65					0	0	0	0	G	70633591	A	G	70633591	3	3	232	1	0	0	0	0	1	0	0	0	14796	130	5	5	1373	5	SLC8A3	14	70633591	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	5741978	70633591	36715949	307	42408											
SIPA1L1	26037	broad.mit.edu	37	chr14	72200507	72200507	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggattggtccaacctggtAgatgctgccaaagcctatga	10	11	11	9	0	0	2	0	1	0	1	1	3	1	3	4	3	4	2	4	3	4	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:72200507A>G	ENST00000555818.1	+	19	5397	c.5049A>G	c.(5047-5049)gtA>gtG	p.V1683V	SIPA1L1_ENST00000358550.2_Silent_p.V1662V|SIPA1L1_ENST00000381232.3_Silent_p.V1662V|SIPA1L1_ENST00000537413.1_Silent_p.V1137V|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1683					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCAACCTGGTAGATGCTGCCA	0.587													21	42					0	0	0	0	G	72200507	A	G	72200507	2	3	232	1	0	0	0	0	0	0	0	1	14417	407	15	5		5	SIPA1L1	14	72200507	Silent	SNP	A	TCGA-CV-5441-01A-01D-1512-08	1566916	72200507	35149033	308	42409											
AHNAK2	113146	broad.mit.edu	37	chr14	105411998	105411998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacacctccacgtcgggggCcgtcacatccatcttcgggc	7	7	11	16	4	2	1	1	0	1	1	6	1	4	1	4	3	0	0	4	3	0	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:105411998C>A	ENST00000333244.5	-	7	9909	c.9790G>T	c.(9790-9792)Gcc>Tcc	p.A3264S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3264						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGTCGGGGGCCGTCACATCC	0.627													75	140					2.5377e-55	4.21872e-55	1	0	A	105411998	C	A	105411998	3	1	232	1	0	0	0	0	1	0	0	0	415	739	26	4	7601	4	AHNAK2	14	105411998	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	33211491	105411998	1937542	309	42410											
AHNAK2	113146	broad.mit.edu	37	chr14	105412823	105412823	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctggggcagacacccCgaacgacggcatcttgaact	9	7	11	14	3	1	2	0	1	1	1	1	4	1	2	3	3	3	2	3	3	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:105412823C>G	ENST00000333244.5	-	7	9084	c.8965G>C	c.(8965-8967)Ggg>Cgg	p.G2989R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2989						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCAGACACCCCGAACGACGGC	0.602													165	348					0	0	0	0	G	105412823	C	G	105412823	3	3	232	1	0	0	0	0	1	0	0	0	415	652	23	3	8426	3	AHNAK2	14	105412823	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	825	105412823	1936717	310	42411											
MKRN3	7681	broad.mit.edu	37	chr15	23811400	23811400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccgactcaggaagtggcGgaagcccccccggctgcatc	7	4	12	18	3	1	0	1	0	0	0	2	3	1	2	5	4	2	2	5	4	2	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:23811400G>A	ENST00000314520.3	+	1	947	c.471G>A	c.(469-471)gcG>gcA	p.A157A	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	157						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.A157A(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGAAGTGGCGGAAGCCCCCC	0.642													17	60					0	0	0	0	A	23811400	G	A	23811400	2	1	232	1	0	0	0	0	0	0	0	1	9677	1103	39	1		1	MKRN3	15	23811400	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08		23811400	78719992	311	42412											
NDN	4692	broad.mit.edu	37	chr15	23932095	23932095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccggggctggcggtgcCgggcccggctgggccgcgct	0	5	21	15	7	0	0	0	0	0	0	0	0	0	0	4	7	2	3	4	7	0	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:23932095C>T	ENST00000331837.4	-	1	355	c.270G>A	c.(268-270)ccG>ccA	p.P90P		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	90					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGGCGGTGCCGGGCCCGGCT	0.706									Prader-Willi syndrome				16	31					0	0	0	0	T	23932095	C	T	23932095	2	4	232	1	0	0	0	0	0	0	0	1	10317	639	23	1		1	NDN	15	23932095	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	120695	23932095	78599297	312	42413											
TRPM1	4308	broad.mit.edu	37	chr15	31324988	31324988	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatgatatccacacagtaGatcacccggccatagcccat	14	7	7	13	1	1	3	1	1	0	2	2	3	2	3	4	1	1	1	4	1	4	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:31324988G>A	ENST00000542188.1	-	21	3220	c.2907C>T	c.(2905-2907)atC>atT	p.I969I	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Silent_p.I930I|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Silent_p.I952I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	930					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCACACAGTAGATCACCCGGC	0.473													42	69					0	0	0	0	A	31324988	G	A	31324988	2	1	232	1	0	0	0	0	0	0	0	1	16680	932	33	2		2	TRPM1	15	31324988	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	7392893	31324988	71206404	313	42414											
SPRED1	161742	broad.mit.edu	37	chr15	38591587	38591587	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttagtaatagttatgcaCgagtgcgagctgtggtgatg	10	14	13	4	2	0	1	0	1	0	0	0	3	0	1	0	1	3	4	0	1	4	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:38591587C>T	ENST00000299084.4	+	2	906	c.46C>T	c.(46-48)Cga>Tga	p.R16*	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	16	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TAGTTATGCACGAGTGCGAGC	0.438									Legius syndrome				30	62					0	0	0	0	T	38591587	C	T	38591587	4	4	232	1	0	0	0	0	0	1	0	0	15182	528	19	1	52	1	SPRED1	15	38591587	Nonsense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	7266599	38591587	63939805	314	42415											
SEMA6D	80031	broad.mit.edu	37	chr15	48055235	48055235	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacactttcttcatgccatAgaatatggaaactatgtcta	13	13	5	10	0	3	1	1	0	2	1	3	2	3	2	2	1	2	0	2	1	6	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:48055235A>T	ENST00000316364.5	+	9	1120	c.681A>T	c.(679-681)atA>atT	p.I227I	SEMA6D_ENST00000389432.2_Silent_p.I227I|SEMA6D_ENST00000558816.1_Silent_p.I227I|SEMA6D_ENST00000358066.4_Silent_p.I227I|SEMA6D_ENST00000389433.2_Silent_p.I227I|SEMA6D_ENST00000355997.3_Silent_p.I227I|SEMA6D_ENST00000558014.1_Silent_p.I227I|SEMA6D_ENST00000389425.3_Silent_p.I227I|SEMA6D_ENST00000536845.2_Silent_p.I227I|SEMA6D_ENST00000389428.3_Silent_p.I227I|SEMA6D_ENST00000537942.1_Silent_p.I227I|SEMA6D_ENST00000354744.4_Silent_p.I227I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	227	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTCATGCCATAGAATATGGAA	0.358													9	43					0	0	0	0	T	48055235	A	T	48055235	2	4	232	1	0	0	0	0	0	0	0	1	14129	410	15	5		5	SEMA6D	15	48055235	Silent	SNP	A	TCGA-CV-5441-01A-01D-1512-08	9463648	48055235	54476157	315	42416											
NARG2	79664	broad.mit.edu	37	chr15	60745949	60745949	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttttggggaagtggTgaattaatatatattacttt	11	20	8	2	0	1	1	0	1	1	0	1	2	1	2	0	3	1	0	0	3	7	10			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:60745949T>A	ENST00000261520.4	-	9	1212	c.978A>T	c.(976-978)tcA>tcT	p.S326S	NARG2_ENST00000439632.1_Silent_p.S189S|NARG2_ENST00000561114.1_Silent_p.S326S	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	326						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						GGGGAAGTGGTGAATTAATAT	0.289													32	97					0	0	0	0	A	60745949	T	A	60745949	2	1	232	1	0	0	0	0	0	0	0	1	10239	1683	59	5		5	NARG2	15	60745949	Silent	SNP	T	TCGA-CV-5441-01A-01D-1512-08	12690714	60745949	41785443	316	42417											
VPS13C	54832	broad.mit.edu	37	chr15	62202492	62202492	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgacaaactttctggccAaaatggaaggcactaaaaat	16	8	8	9	0	1	1	0	1	1	0	1	2	1	2	2	3	1	1	2	3	7	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:62202492A>G	ENST00000261517.5	-	64	8801	c.8728T>C	c.(8728-8730)Tgg>Cgg	p.W2910R	VPS13C_ENST00000395896.4_Missense_Mutation_p.W2910R|VPS13C_ENST00000395898.3_Missense_Mutation_p.W2867R|VPS13C_ENST00000249837.3_Missense_Mutation_p.W2867R	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2910					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTTCTGGCCAAAATGGAAGG	0.328													12	36					0	0	0	0	G	62202492	A	G	62202492	3	3	232	1	0	0	0	0	1	0	0	0	17287	130	5	5	2649	5	VPS13C	15	62202492	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	1456543	62202492	40328900	317	42418											
SMAD6	4091	broad.mit.edu	37	chr15	67073771	67073771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccctacgaccccaacagCgtccgcatcagcttcgccaa	9	5	8	19	4	1	0	1	0	0	0	3	1	2	0	6	1	4	2	6	1	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:67073771C>T	ENST00000288840.5	+	4	2420	c.1389C>T	c.(1387-1389)agC>agT	p.S463S	SMAD6_ENST00000338426.4_Silent_p.S202S	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	463	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						ACCCCAACAGCGTCCGCATCA	0.682													12	19					0	0	0	0	T	67073771	C	T	67073771	2	4	232	1	0	0	0	0	0	0	0	1	14850	767	27	1		1	SMAD6	15	67073771	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	4871279	67073771	35457621	318	42419											
CHRNA5	1138	broad.mit.edu	37	chr15	78878992	78878993	+	Frame_Shift_Ins	INS	-	-	A																															tttattttttaaaggatgagINSaaaaatcagttaatgacaac																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:78878992_78878993insA	ENST00000299565.5	+	3	464_465	c.264_265insA	c.(262-267)gaaaaafs	p.EK88fs	CHRNA5_ENST00000559554.1_Frame_Shift_Ins_p.EK88fs	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	88					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						taaaGGATGAGAAAAATCAGTT	0.262													89	115	---	---	---	---					A	78878993	-	A	78878992	7	5	232	1	0	1	1	0	0	0	0	0	3415	933	33	0	274	0	CHRNA5	15	78878992	Frame_Shift_Ins	INS	-	TCGA-CV-5441-01A-01D-1512-08	11805221	78878992	23652400	319	42420											
POLG	5428	broad.mit.edu	37	chr15	89873428	89873428	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccagtagggacctccaGggggatgaggtcagccggcg	8	4	18	11	2	1	1	1	1	0	0	2	3	2	3	4	6	1	2	4	6	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:89873428G>A	ENST00000268124.5	-	3	1072	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	POLG_ENST00000442287.2_Silent_p.L247L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	247					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGACCTCCAGGGGGATGAGG	0.612								DNA polymerases (catalytic subunits)					9	80					0	0	0	0	A	89873428	G	A	89873428	2	1	232	1	0	0	0	0	0	0	0	1	12272	991	35	4		4	POLG	15	89873428	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	10994436	89873428	12657964	320	42421											
CHD2	1106	broad.mit.edu	37	chr15	93528831	93528831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatgatgacaagaagcCaaagcgcagagggcgtccga	13	5	13	10	3	1	5	0	3	1	2	2	6	2	5	2	1	2	1	2	1	3	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:93528831C>T	ENST00000394196.4	+	26	4409	c.3341C>T	c.(3340-3342)cCa>cTa	p.P1114L	CHD2_ENST00000557381.1_Missense_Mutation_p.P1114L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1114					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GACAAGAAGCCAAAGCGCAGA	0.537													26	93					0	0	0	0	T	93528831	C	T	93528831	3	4	232	1	0	0	0	0	1	0	0	0	3354	594	21	4	3443	4	CHD2	15	93528831	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	3655403	93528831	9002561	321	42422											
ZNF597	146434	broad.mit.edu	37	chr16	3487215	3487215	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcgctgaagttttggtCacactcaggacatttgtaca	11	13	9	8	1	2	2	2	2	0	0	3	3	2	3	0	2	1	3	0	2	2	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:3487215C>A	ENST00000301744.4	-	4	719	c.484G>T	c.(484-486)Gac>Tac	p.D162Y	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						AAGTTTTGGTCACACTCAGGA	0.368													67	191					4.15811e-52	6.86877e-52	1	0	A	3487215	C	A	3487215	3	1	232	1	0	0	0	0	1	0	0	0	18122	826	29	2	794	2	ZNF597	16	3487215	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08		3487215	86867538	322	42423											
DNAJA3	9093	broad.mit.edu	37	chr16	4475952	4475952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcggctgccggctatatcgGgtagaggggcccggccgccc	4	5	17	15	6	0	1	0	0	0	1	1	1	0	1	4	6	1	3	4	6	3	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:4475952G>T	ENST00000262375.6	+	1	147	c.70G>T	c.(70-72)Ggt>Tgt	p.G24C	DNAJA3_ENST00000355296.4_Missense_Mutation_p.G24C|DNAJA3_ENST00000431375.2_5'UTR	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	24					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						GGCTATATCGGGTAGAGGGGC	0.726													3	2					0.150653	0.152701	1	0	T	4475952	G	T	4475952	3	4	232	1	0	0	0	0	1	0	0	0	4649	1232	43	4	72	4	DNAJA3	16	4475952	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	988737	4475952	85878801	323	42424											
MYH11	4629	broad.mit.edu	37	chr16	15931989	15931989	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcctcgaagccctgcttctCcgaggggacccagacgagtc	7	7	12	15	3	1	1	0	0	1	1	4	5	1	2	4	2	3	1	4	2	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:15931989C>G	ENST00000338282.6	-	2	227	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	MYH11_ENST00000576790.1_Missense_Mutation_p.E41Q|MYH11_ENST00000452625.2_Missense_Mutation_p.E41Q|MYH11_ENST00000396324.3_Missense_Mutation_p.E41Q|MYH11_ENST00000300036.5_Missense_Mutation_p.E41Q	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	41	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCCTGCTTCTCCGAGGGGACC	0.567			T	CBFB	AML								38	106					0	0	0	0	G	15931989	C	G	15931989	3	3	232	1	0	0	0	0	1	0	0	0	10101	864	30	2	6017	2	MYH11	16	15931989	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	11456037	15931989	74422764	324	42425											
ACSM2A	123876	broad.mit.edu	37	chr16	20487096	20487096	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctatggccagacagaaacgGtacctgttcccaggggaacc	11	6	11	13	1	0	2	0	0	0	2	1	3	1	3	5	4	3	2	5	4	4	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:20487096G>T	ENST00000573854.1	+	8	1212		c.e8+1		ACSM2A_ENST00000536134.1_Splice_Site|ACSM2A_ENST00000575690.1_Splice_Site|ACSM2A_ENST00000575558.1_Splice_Site|ACSM2A_ENST00000219054.6_Splice_Site|ACSM2A_ENST00000396104.2_Splice_Site|ACSM2A_ENST00000417235.2_Splice_Site	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A						fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GACAGAAACGGTACCTGTTCC	0.483													95	233					2.37326e-55	3.95796e-55	1	0	T	20487096	G	T	20487096	5	4	232	1	0	0	0	0	0	0	1	0	183	1275	44	4	1125	4	ACSM2A	16	20487096	Splice_Site	SNP	G	TCGA-CV-5441-01A-01D-1512-08	4555107	20487096	69867657	325	42426											
PRKCB	5579	broad.mit.edu	37	chr16	24231346	24231346	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagcctgtggaactgacccCcactgataaactcttcatca	12	9	6	14	0	3	2	2	2	1	0	3	3	3	3	3	1	3	0	3	1	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:24231346C>A	ENST00000321728.7	+	17	2103	c.1928C>A	c.(1927-1929)cCc>cAc	p.P643H	PRKCB_ENST00000303531.7_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	643	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GAACTGACCCCCACTGATAAA	0.423													28	51					4.59853e-10	5.43084e-10	1	0	A	24231346	C	A	24231346	3	1	232	1	0	0	0	0	1	0	0	0	12588	623	22	4	2157	4	PRKCB	16	24231346	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	3744250	24231346	66123407	326	42427											
SPNS1	83985	broad.mit.edu	37	chr16	28995109	28995109	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctcctctccctgcagatCtctgaccgcctgcgccggaa	5	10	9	17	3	3	2	0	1	3	1	6	3	3	3	5	1	2	1	5	1	1	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:28995109C>T	ENST00000311008.11	+	11	1700	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	SPNS1_ENST00000565975.1_Silent_p.I486I|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000352260.7_Silent_p.I367I|SPNS1_ENST00000334536.8_Silent_p.I389I|SPNS1_ENST00000323081.8_Silent_p.I368I	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	441					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCCTGCAGATCTCTGACCGCC	0.637													57	91					0	0	0	0	T	28995109	C	T	28995109	2	4	232	1	0	0	0	0	0	0	0	1	15164	903	32	2		2	SPNS1	16	28995109	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	4763763	28995109	61359644	327	42428											
ZFP90	146198	broad.mit.edu	37	chr16	68598394	68598394	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttagtcaaagttcatctctCattcagcatgagagaactca	13	13	6	9	0	6	2	5	1	1	1	7	3	6	2	0	0	2	2	0	0	3	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:68598394C>T	ENST00000570495.1	+	5	1996	c.1704C>T	c.(1702-1704)ctC>ctT	p.L568L	RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Silent_p.L568L|ZFP90_ENST00000398253.2_Silent_p.L568L			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	568					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GTTCATCTCTCATTCAGCATG	0.438													53	119					0	0	0	0	T	68598394	C	T	68598394	2	4	232	1	0	0	0	0	0	0	0	1	17749	813	29	2		2	ZFP90	16	68598394	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	39603285	68598394	21756359	328	42429											
COG4	25839	broad.mit.edu	37	chr16	70530226	70530226	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttttgtgtcaaatttgccTtgctggaggctgctgtgcat	5	16	11	9	0	1	0	1	0	0	0	1	1	1	1	2	2	4	4	2	2	1	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:70530226T>A	ENST00000323786.5	-	12	1611	c.1590A>T	c.(1588-1590)caA>caT	p.Q530H		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	526					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CAAATTTGCCTTGCTGGAGGC	0.547													15	74					0	0	0	0	A	70530226	T	A	70530226	3	1	232	1	0	0	0	0	1	0	0	0	3690	1606	56	5	811	5	COG4	16	70530226	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	1931832	70530226	19824527	329	42430											
ADAT1	23536	broad.mit.edu	37	chr16	75646689	75646689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctactgatgagttgtgggcCcaatttctgaagacaggaca	11	11	11	8	0	2	4	0	3	2	1	2	5	2	5	1	2	1	1	1	2	3	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:75646689C>A	ENST00000307921.3	-	7	640	c.495G>T	c.(493-495)tgG>tgT	p.W165C		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	165	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						AGTTGTGGGCCCAATTTCTGA	0.463													20	49					7.87624e-14	9.78905e-14	1	0	A	75646689	C	A	75646689	3	1	232	1	0	0	0	0	1	0	0	0	284	624	22	4	1033	4	ADAT1	16	75646689	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	5116463	75646689	14708064	330	42431											
ADAMTS18	170692	broad.mit.edu	37	chr16	77375634	77375634	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaacggtcccttctgctgcGggcataaacttggtctcaca	9	10	9	13	2	2	0	1	0	2	0	4	0	3	0	1	3	4	2	1	3	3	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:77375634G>C	ENST00000282849.5	-	11	2095	c.1677C>G	c.(1675-1677)ccC>ccG	p.P559P		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	559	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTCTGCTGCGGGCATAAACT	0.418													14	43					0	0	0	0	C	77375634	G	C	77375634	2	2	232	1	0	0	0	0	0	0	0	1	263	1103	39	3		3	ADAMTS18	16	77375634	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1728945	77375634	12979119	331	42432											
NECAB2	54550	broad.mit.edu	37	chr16	84024099	84024099	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcttctcttccttccacagGtatatgagggtgggagcaac	8	12	10	11	0	2	1	0	1	2	0	5	2	4	2	2	3	2	2	2	3	3	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:84024099G>T	ENST00000565691.1	+	4	933	c.210_splice	c.e4-1	p.V71_splice	NECAB2_ENST00000305202.4_Splice_Site_p.V154_splice			Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	154	EF-hand 1.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CCTTCCACAGGTATATGAGGG	0.572													34	63					1.22384e-17	1.61324e-17	1	0	T	84024099	G	T	84024099	5	4	232	1	0	0	0	0	0	0	1	0	10375	1275	44	4	482	4	NECAB2	16	84024099	Splice_Site	SNP	G	TCGA-CV-5441-01A-01D-1512-08	6648465	84024099	6330654	332	42433											
ZBTB4	57659	broad.mit.edu	37	chr17	7370091	7370091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacggcgggggcatgggaCgggtccgtcacctctgcagg	6	5	19	11	4	2	0	1	0	1	0	3	2	3	2	2	7	1	2	2	7	0	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:7370091C>T	ENST00000311403.4	-	3	369	c.30G>A	c.(28-30)ccG>ccA	p.P10P	ZBTB4_ENST00000380599.4_Silent_p.P10P	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGGCATGGGACGGGTCCGTCA	0.657													2	0					0	0	0	0	T	7370091	C	T	7370091	2	4	232	1	0	0	0	0	0	0	0	1	17636	523	19	1		1	ZBTB4	17	7370091	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08		7370091	73825119	333	42434											
CHD3	1107	broad.mit.edu	37	chr17	7806008	7806008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcatcgatggtggtatcacGggtgccctgaggcaggaggc	7	7	17	10	3	1	1	1	1	0	0	2	3	1	2	1	6	1	3	1	6	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:7806008G>A	ENST00000380358.4	+	21	3511	c.3510G>A	c.(3508-3510)acG>acA	p.T1170T	CHD3_ENST00000358181.4_Silent_p.T1111T|CHD3_ENST00000330494.7_Silent_p.T1111T	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1111	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTGGTATCACGGGTGCCCTGA	0.507													96	49					0	0	0	0	A	7806008	G	A	7806008	2	1	232	1	0	0	0	0	0	0	0	1	3355	1103	39	1		1	CHD3	17	7806008	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	435917	7806008	73389202	334	42435											
ALOX15B	247	broad.mit.edu	37	chr17	7943265	7943265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgctccagcaacagcGccaggaggagcttcaggccc	8	5	12	16	1	1	0	1	0	0	0	2	2	2	2	4	3	5	3	4	3	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:7943265G>T	ENST00000380183.4	+	3	552	c.413G>T	c.(412-414)cGc>cTc	p.R138L	ALOX15B_ENST00000380173.2_Missense_Mutation_p.R138L|ALOX15B_ENST00000573359.1_Missense_Mutation_p.R138L|ALOX15B_ENST00000572022.1_Missense_Mutation_p.R138L	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	138	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CAGCAACAGCGCCAGGAGGAG	0.612													46	46					6.60958e-23	9.58389e-23	1	0	T	7943265	G	T	7943265	3	4	232	1	0	0	0	0	1	0	0	0	539	1087	38	3	423	3	ALOX15B	17	7943265	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	137257	7943265	73251945	335	42436											
MYH8	4626	broad.mit.edu	37	chr17	10304007	10304007	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctcgctgatctcctccagTtcccgggagaggtcagagcg	6	9	12	14	3	3	3	1	1	2	2	7	4	5	3	3	2	1	2	3	2	0	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:10304007T>C	ENST00000403437.2	-	27	3529	c.3435A>G	c.(3433-3435)gaA>gaG	p.E1145E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1145					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTCCTCCAGTTCCCGGGAGA	0.592									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				98	44					0	0	0	0	C	10304007	T	C	10304007	2	2	232	1	0	0	0	0	0	0	0	1	10111	1722	60	5		5	MYH8	17	10304007	Silent	SNP	T	TCGA-CV-5441-01A-01D-1512-08	2360742	10304007	70891203	336	42437											
SSH2	85464	broad.mit.edu	37	chr17	27963640	27963640	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatcttgtgggaccatatgTtccacaaagacaggaggtat	12	10	11	8	0	1	1	0	0	1	1	2	3	2	3	2	3	0	3	2	3	3	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:27963640T>C	ENST00000269033.3	-	14	1678	c.1527A>G	c.(1525-1527)gaA>gaG	p.E509E	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.E536E	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	509					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGACCATATGTTCCACAAAGA	0.463													38	159					0	0	0	0	C	27963640	T	C	27963640	2	2	232	1	0	0	0	0	0	0	0	1	15275	1722	60	5		5	SSH2	17	27963640	Silent	SNP	T	TCGA-CV-5441-01A-01D-1512-08	17659633	27963640	53231570	337	42438											
EFCAB5	374786	broad.mit.edu	37	chr17	28380818	28380818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagagagtctattgcagaaCaagatcgacacaaagggtca	16	6	11	8	1	2	3	1	0	1	3	3	5	2	3	0	1	2	2	0	1	4	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:28380818C>A	ENST00000394835.3	+	10	2038	c.1846C>A	c.(1846-1848)Caa>Aaa	p.Q616K	EFCAB5_ENST00000541045.1_Missense_Mutation_p.Q273K|EFCAB5_ENST00000536908.2_Missense_Mutation_p.Q560K|EFCAB5_ENST00000378738.3_Missense_Mutation_p.Q616K|EFCAB5_ENST00000394832.2_Missense_Mutation_p.Q616K|EFCAB5_ENST00000320856.5_Missense_Mutation_p.Q616K	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	616							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TATTGCAGAACAAGATCGACA	0.468													43	130					1.22674e-20	1.7307e-20	1	0	A	28380818	C	A	28380818	3	1	232	1	0	0	0	0	1	0	0	0	4974	479	17	4	1884	4	EFCAB5	17	28380818	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	417178	28380818	52814392	338	42439											
ACACA	31	broad.mit.edu	37	chr17	35549233	35549233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccagatgacgatagataCgatcctcctcaaactgagta	13	9	8	11	2	1	4	1	2	0	2	4	6	4	4	3	0	2	2	3	0	4	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:35549233C>T	ENST00000353139.5	-	37	4695	c.4214G>A	c.(4213-4215)cGt>cAt	p.R1405H	ACACA_ENST00000360679.3_Missense_Mutation_p.R1310H|ACACA_ENST00000335166.5_Missense_Mutation_p.R1290H|ACACA_ENST00000394406.2_Missense_Mutation_p.R1368H	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1368					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACGATAGATACGATCCTCCTC	0.408													22	39					0	0	0	0	T	35549233	C	T	35549233	3	4	232	1	0	0	0	0	1	0	0	0	106	536	19	1	3017	1	ACACA	17	35549233	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	7168415	35549233	45645977	339	42440											
WNK4	65266	broad.mit.edu	37	chr17	40937377	40937377	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggacgacggcgagaagccGggcctcaagctctggctgcg	8	4	17	12	5	2	1	1	0	1	1	2	5	2	2	2	4	3	2	2	4	2	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:40937377G>T	ENST00000246914.5	+	6	1374	c.1353G>T	c.(1351-1353)ccG>ccT	p.P451P	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	451					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCGAGAAGCCGGGCCTCAAGC	0.706													7	16					0.000274275	0.000288652	1	0	T	40937377	G	T	40937377	2	4	232	1	0	0	0	0	0	0	0	1	17476	1103	39	3		3	WNK4	17	40937377	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	5388144	40937377	40257833	340	42441											
GPATCH8	23131	broad.mit.edu	37	chr17	42513913	42513913	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggaatgggatctgttctcCctgtaacaggaacacataat	12	12	9	8	0	2	0	0	0	2	0	3	3	2	3	1	3	2	2	1	3	4	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:42513913C>A	ENST00000591680.1	-	4	224	c.193_splice	c.e4-1	p.G65_splice	GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000434000.1_5'UTR	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	65	G-patch.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATCTGTTCTCCCTGTAACAGG	0.428													28	73					5.77227e-19	7.8263e-19	1	0	A	42513913	C	A	42513913	5	1	232	1	0	0	0	0	0	0	1	0	6643	637	22	4	4334	4	GPATCH8	17	42513913	Splice_Site	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1576536	42513913	38681297	341	42442											
TBKBP1	9755	broad.mit.edu	37	chr17	45785830	45785830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgggagttgagttccctaCaggggagaatcttgaggact	9	11	14	7	1	1	3	0	2	1	1	3	6	2	5	1	4	1	2	1	4	2	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:45785830C>A	ENST00000361722.3	+	7	1792	c.943C>A	c.(943-945)Cag>Aag	p.Q315K		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	315					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GAGTTCCCTACAGGGGAGAAT	0.652													17	41					3.32936e-07	3.78633e-07	1	0	A	45785830	C	A	45785830	3	1	232	1	0	0	0	0	1	0	0	0	15732	479	17	4	969	4	TBKBP1	17	45785830	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	3271917	45785830	35409380	342	42443											
AKAP1	8165	broad.mit.edu	37	chr17	55183669	55183669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcacacagagctggcaaagGacgatgcggcgccagcaccc	11	3	12	15	3	1	1	1	0	0	1	1	3	1	2	2	3	3	3	2	3	1	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:55183669G>A	ENST00000337714.3	+	2	1077	c.844G>A	c.(844-846)Gac>Aac	p.D282N	AKAP1_ENST00000571629.1_Missense_Mutation_p.D282N|AKAP1_ENST00000539273.1_Missense_Mutation_p.D282N|AKAP1_ENST00000314126.3_Missense_Mutation_p.D282N|AKAP1_ENST00000572557.1_Missense_Mutation_p.D282N	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	282					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GCTGGCAAAGGACGATGCGGC	0.577													52	111					0	0	0	0	A	55183669	G	A	55183669	3	1	232	1	0	0	0	0	1	0	0	0	445	1174	41	2	846	2	AKAP1	17	55183669	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	9397839	55183669	26011541	343	42444											
CSHL1	1444	broad.mit.edu	37	chr17	61987391	61987391	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcctggaggattcacgaggGgaaatgaagaataaggtgag	14	6	17	4	1	1	3	1	2	0	1	1	7	1	6	1	6	0	0	1	6	4	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:61987391G>C	ENST00000450719.3	-	3	557	c.320C>G	c.(319-321)cCc>cGc	p.P107R	CSHL1_ENST00000561003.1_Missense_Mutation_p.P118R|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000259003.10_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ATTCACGAGGGGAAATGAAGA	0.547													48	112					0	0	0	0	C	61987391	G	C	61987391	3	2	232	1	0	0	0	0	1	0	0	0	3974	1247	43	4		4	CSHL1	17	61987391	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	6803722	61987391	19207819	344	42445											
ABCA9	10350	broad.mit.edu	37	chr17	67025355	67025355	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccctgcatattctttttTaagatttttgattctgaaaa	10	20	4	7	0	2	3	0	2	2	1	3	3	3	3	1	0	1	1	1	0	4	9			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:67025355T>C	ENST00000340001.4	-	11	1670	c.1459A>G	c.(1459-1461)Aaa>Gaa	p.K487E	ABCA9_ENST00000370732.2_Missense_Mutation_p.K487E|ABCA9_ENST00000453985.2_Missense_Mutation_p.K487E	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	487	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TATTCTTTTTTAAGATTTTTG	0.328													23	36					0	0	0	0	C	67025355	T	C	67025355	3	2	232	1	0	0	0	0	1	0	0	0	39	1763	61	5	3531	5	ABCA9	17	67025355	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	5037964	67025355	14169855	345	42446											
CBX8	57332	broad.mit.edu	37	chr17	77768668	77768668	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccccccagagctggggggGcctgagccatgtcggacccg	5	4	15	17	2	0	2	0	1	0	1	1	3	0	3	7	4	2	1	7	4	0	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:77768668G>T	ENST00000269385.4	-	5	1053	c.936C>A	c.(934-936)ggC>ggA	p.G312G		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	312					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGCTGGGGGGGCCTGAGCCAT	0.692													15	24					1.49906e-05	1.63363e-05	1	0	T	77768668	G	T	77768668	2	4	232	1	0	0	0	0	0	0	0	1	2749	1203	42	4		4	CBX8	17	77768668	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	10743313	77768668	3426542	346	42447											
COLEC12	81035	broad.mit.edu	37	chr18	346445	346445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagaaacagaatccaaacGgatgttggccagggtattat	15	8	12	6	1	0	2	0	0	0	2	1	5	1	3	2	3	2	2	2	3	5	3	rs140549407		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:346445G>A	ENST00000400256.3	-	5	1384	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	393					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GAATCCAAACGGATGTTGGCC	0.433													202	76					0	0	0	0	A	346445	G	A	346445	3	1	232	1	0	0	0	0	1	0	0	0	3742	1116	39	1	1075	1	COLEC12	18	346445	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08		346445	77730803	347	42448											
EPB41L3	23136	broad.mit.edu	37	chr18	5397093	5397093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccaaagtttctgaaatGtggatggctgcactctgctc	8	14	10	9	0	2	1	0	1	2	0	4	2	3	2	1	2	2	5	1	2	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:5397093G>T	ENST00000341928.2	-	18	3145	c.2805C>A	c.(2803-2805)caC>caA	p.H935Q	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.H713Q|EPB41L3_ENST00000427684.2_Missense_Mutation_p.H232Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.H766Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.H935Q|EPB41L3_ENST00000542146.1_Missense_Mutation_p.H240Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.H713Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	935	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTTCTGAAATGTGGATGGCTG	0.438													221	96					1.58895e-58	2.66699e-58	1	0	T	5397093	G	T	5397093	3	4	232	1	0	0	0	0	1	0	0	0	5192	1368	48	4	478	4	EPB41L3	18	5397093	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	5050648	5397093	72680155	348	42449											
LAMA1	284217	broad.mit.edu	37	chr18	7037668	7037668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatgctgacctgatggCgcccgcctagtgcatcttgc	5	12	12	12	2	1	3	0	3	1	0	1	3	1	3	3	1	3	3	3	1	1	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:7037668C>T	ENST00000389658.3	-	12	1739	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	549	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACCTGATGGCGCCCGCCTAG	0.547													180	73					0	0	0	0	T	7037668	C	T	7037668	3	4	232	1	0	0	0	0	1	0	0	0	8658	768	27	1	7789	1	LAMA1	18	7037668	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1640575	7037668	71039580	349	42450											
CEP192	55125	broad.mit.edu	37	chr18	13053023	13053023	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggggtgagcaggctgacGtatgtgtctgaaccagagag	9	8	17	7	1	1	4	0	3	1	1	1	5	1	4	1	3	2	4	1	3	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:13053023G>T	ENST00000506447.1	+	18	3203	c.3123G>T	c.(3121-3123)acG>acT	p.T1041T	CEP192_ENST00000430049.2_Silent_p.T566T|CEP192_ENST00000325971.8_Silent_p.T445T	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	636										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCAGGCTGACGTATGTGTCTG	0.562													83	457					1.45872e-26	2.16321e-26	1	0	T	13053023	G	T	13053023	2	4	232	1	0	0	0	0	0	0	0	1	3280	1132	40	3		3	CEP192	18	13053023	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	6015355	13053023	65024225	350	42451											
MAPK4	5596	broad.mit.edu	37	chr18	48248423	48248423	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcagcagcacctgggaGgtgaagaggcctctgcgcaa	9	8	14	10	1	2	2	1	1	1	1	2	3	2	3	2	3	3	3	2	3	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:48248423G>C	ENST00000400384.2	+	4	1843	c.807G>C	c.(805-807)gaG>gaC	p.E269D	MAPK4_ENST00000540640.1_Missense_Mutation_p.E58D|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	269	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCACCTGGGAGGTGAAGAGGC	0.582													10	20					0	0	0	0	C	48248423	G	C	48248423	3	2	232	1	0	0	0	0	1	0	0	0	9349	991	35	4	817	4	MAPK4	18	48248423	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	35195400	48248423	29828825	351	42452											
WDR18	57418	broad.mit.edu	37	chr19	990234	990234	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgctcagcgtgctgcaggCcgacccctccaggattccgg	5	6	12	18	4	1	0	1	0	0	0	3	2	3	1	6	3	3	3	6	3	0	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:990234C>A	ENST00000251289.5	+	4	490	c.467C>A	c.(466-468)gCc>gAc	p.A156D	WDR18_ENST00000587001.2_Missense_Mutation_p.A156D|WDR18_ENST00000591997.1_3'UTR	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	156										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GTGCTGCAGGCCGACCCCTCC	0.721													8	30					1.12685e-05	1.23575e-05	1	0	A	990234	C	A	990234	3	1	232	1	0	0	0	0	1	0	0	0	17374	739	26	4	481	4	WDR18	19	990234	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08		990234	58138749	352	42453											
GPX4	2879	broad.mit.edu	37	chr19	1105707	1105707	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcgccgcgggctacaacgtCaaattcgatatgttcagcaa	11	10	9	11	5	2	0	2	0	0	0	4	1	2	0	1	1	3	3	1	1	5	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:1105707C>G	ENST00000354171.8	+	4	482	c.375C>G	c.(373-375)gtC>gtG	p.V125V	GPX4_ENST00000589115.1_Silent_p.V125V	NM_001039847.1|NM_002085.3	NP_001034936.1|NP_002076.2	P36969	GPX4_HUMAN	glutathione peroxidase 4	125					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|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)	Glutathione(DB00143)	GCTACAACGTCAAATTCGATA	0.587													8	15					0	0	0	0	G	1105707	C	G	1105707	2	3	232	1	0	0	0	0	0	0	0	1	6792	813	29	2		2	GPX4	19	1105707	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	115473	1105707	58023276	353	42454											
JSRP1	126306	broad.mit.edu	37	chr19	2252344	2252344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggctcagtcccgccccttgCctgcgcggagcttctggcga	3	8	13	17	5	2	0	1	0	1	0	3	2	3	1	4	3	3	2	4	3	0	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:2252344C>A	ENST00000300961.5	-	7	1044	c.980G>T	c.(979-981)gGc>gTc	p.G327V	JSRP1_ENST00000586471.1_Missense_Mutation_p.G327V	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	327	Arg-rich.					sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		CCGCCCCTTGCCTGCGCGGAG	0.721													4	7					0.014758	0.0151349	1	0	A	2252344	C	A	2252344	3	1	232	1	0	0	0	0	1	0	0	0	8019	739	26	4	19	4	JSRP1	19	2252344	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1146637	2252344	56876639	354	42455											
ARRDC5	645432	broad.mit.edu	37	chr19	4891219	4891219	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccagctcgtagcgagtgtGcatgatctcaccgtcctgcg	7	9	12	13	4	1	1	1	1	1	0	4	3	2	1	3	0	4	3	3	0	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:4891219G>C	ENST00000381781.2	-	3	867	c.868C>G	c.(868-870)Cac>Gac	p.H290D		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	290					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TAGCGAGTGTGCATGATCTCA	0.612													68	159					0	0	0	0	C	4891219	G	C	4891219	3	2	232	1	0	0	0	0	1	0	0	0	990	1319	46	4	164	4	ARRDC5	19	4891219	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2638875	4891219	54237764	355	42456											
COL5A3	50509	broad.mit.edu	37	chr19	10078024	10078024	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccccccggggaactcaccGgggggcctggtgggcctgca	4	4	17	16	3	1	0	1	0	0	0	1	1	1	1	6	7	2	1	6	7	1	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:10078024G>T	ENST00000264828.3	-	62	4542	c.4458_splice	c.e62+1	p.P1486_splice		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1486	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGAACTCACCGGGGGGCCTGG	0.642													3	6					0.115264	0.117058	1	0	T	10078024	G	T	10078024	5	4	232	1	0	0	0	0	0	0	1	0	3728	1130	39	3	804	3	COL5A3	19	10078024	Splice_Site	SNP	G	TCGA-CV-5441-01A-01D-1512-08	5186805	10078024	49050959	356	42457											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10221172	10221172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggctcagtgagcaagacgGaggaggagctgcaggccatc	10	6	16	9	1	1	2	1	1	0	1	2	5	1	5	1	5	3	4	1	5	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:10221172G>A	ENST00000428358.1	+	10	1085	c.913G>A	c.(913-915)Gag>Aag	p.E305K	PPAN_ENST00000393793.1_Missense_Mutation_p.E252K|PPAN_ENST00000253107.7_Missense_Mutation_p.E305K|PPAN_ENST00000556468.1_Missense_Mutation_p.E305K|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E305K	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		305					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GAGCAAGACGGAGGAGGAGCT	0.657													6	19					0	0	0	0	A	10221172	G	A	10221172	3	1	232	1	0	0	0	0	1	0	0	0	12360	1175	41	2	951	2	PPAN-P2RY11	19	10221172	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	143148	10221172	48907811	357	42458											
RFX1	5989	broad.mit.edu	37	chr19	14074050	14074050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaggaaccgaagctggCggcgctgcgcagggtcaggt	8	5	19	9	4	1	0	1	0	0	0	1	3	1	2	1	6	3	3	1	6	3	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:14074050C>A	ENST00000254325.4	-	19	2842	c.2608G>T	c.(2608-2610)Gcc>Tcc	p.A870S		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	870	Necessary for dimerization.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CCGAAGCTGGCGGCGCTGCGC	0.672													12	30					1.05317e-09	1.23263e-09	1	0	A	14074050	C	A	14074050	3	1	232	1	0	0	0	0	1	0	0	0	13344	768	27	3	343	3	RFX1	19	14074050	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	3852878	14074050	45054933	358	42459											
OR10H5	284433	broad.mit.edu	37	chr19	15905710	15905710	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctacacggtcctcacaccCttcctcagccccatcatctt	8	10	3	20	1	4	0	3	0	1	0	6	0	6	0	6	1	2	0	6	1	1	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:15905710C>A	ENST00000308940.8	+	1	950	c.852C>A	c.(850-852)ccC>ccA	p.P284P		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCCTCACACCCTTCCTCAGCC	0.527													22	44					4.47668e-21	6.33286e-21	1	0	A	15905710	C	A	15905710	2	1	232	1	0	0	0	0	0	0	0	1	10980	668	24	4		4	OR10H5	19	15905710	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1831660	15905710	43223273	359	42460											
CYP4F2	8529	broad.mit.edu	37	chr19	15989674	15989674	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgtggtcaggcaggacGcggaagcgcagcagcgtgag	8	5	19	9	5	1	1	1	1	0	0	2	3	1	3	0	5	3	3	0	5	1	0	rs150488576	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:15989674G>A	ENST00000221700.5	-	13	1565	c.1470C>T	c.(1468-1470)cgC>cgT	p.R490R	CYP4F2_ENST00000592328.1_Silent_p.R490R	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	490					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGGCAGGACGCGGAAGCGCA	0.672													12	52					0	0	0	0	A	15989674	G	A	15989674	2	1	232	1	0	0	0	0	0	0	0	1	4220	1074	38	1		1	CYP4F2	19	15989674	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	83964	15989674	43139309	360	42461											
NWD1	284434	broad.mit.edu	37	chr19	16861004	16861004	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggaggacgctgagcccGgtgcacacagatttgctctg	9	7	14	11	2	1	2	0	1	1	1	1	4	1	4	1	3	3	4	1	3	1	1	rs148902093		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:16861004G>A	ENST00000524140.2	+	6	1969	c.1551G>A	c.(1549-1551)ccG>ccA	p.P517P	NWD1_ENST00000523826.1_Silent_p.P311P|NWD1_ENST00000379808.3_Silent_p.P517P|NWD1_ENST00000549814.1_Silent_p.P517P|NWD1_ENST00000552788.1_Silent_p.P517P|NWD1_ENST00000339803.6_Silent_p.P382P	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	517	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGCTGAGCCCGGTGCACACAG	0.632													29	73					0	0	0	0	A	16861004	G	A	16861004	2	1	232	1	0	0	0	0	0	0	0	1	10852	1103	39	1		1	NWD1	19	16861004	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	871330	16861004	42267979	361	42462											
PGLS	25796	broad.mit.edu	37	chr19	17631872	17631872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctgaccgtgcccttcgaGaagcattccactttgtagct	7	12	8	14	2	0	2	0	1	0	1	3	3	2	2	4	0	3	3	4	0	2	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:17631872G>A	ENST00000252603.2	+	5	803	c.759G>A	c.(757-759)gaG>gaA	p.E253E		NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	253						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						TGCCCTTCGAGAAGCATTCCA	0.701													5	11					0	0	0	0	A	17631872	G	A	17631872	2	1	232	1	0	0	0	0	0	0	0	1	11864	933	33	2		2	PGLS	19	17631872	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	770868	17631872	41497111	362	42463											
ZNF257	113835	broad.mit.edu	37	chr19	22271667	22271667	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatactaaagagaaaccctAcaaatgtgaagagtgtggaa	18	8	9	6	0	1	3	1	1	0	2	1	5	1	4	1	1	3	0	1	1	8	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:22271667A>T	ENST00000594947.1	+	4	1259	c.1115A>T	c.(1114-1116)tAc>tTc	p.Y372F		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAGAAACCCTACAAATGTGAA	0.383													12	38					0	0	0	0	T	22271667	A	T	22271667	3	4	232	1	0	0	0	0	1	0	0	0	17895	391	14	5	1129	5	ZNF257	19	22271667	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	4639795	22271667	36857316	363	42464											
ZNF98	148198	broad.mit.edu	37	chr19	22586259	22586259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgtgcggtgtccaggCattgccactcctccagagag	6	10	12	13	1	1	1	0	0	1	1	4	2	4	1	4	2	3	2	4	2	0	1	rs138636054	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:22586259C>A	ENST00000357774.5	-	2	207	c.86G>T	c.(85-87)tGc>tTc	p.C29F	ZNF98_ENST00000601553.1_Missense_Mutation_p.C29F	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GGTGTCCAGGCATTGCCACTC	0.413													29	99					4.74835e-14	5.92976e-14	1	0	A	22586259	C	A	22586259	3	1	232	1	0	0	0	0	1	0	0	0	18296	710	25	4	1644	4	ZNF98	19	22586259	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	314592	22586259	36542724	364	42465											
ZNF536	9745	broad.mit.edu	37	chr19	31025860	31025860	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcccgtactgtgggaaaacTttccggacatcccatcacct	9	10	8	14	2	1	0	1	0	0	0	3	2	3	2	4	2	3	1	4	2	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:31025860T>C	ENST00000355537.3	+	3	2424	c.2277T>C	c.(2275-2277)acT>acC	p.T759T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	759					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTGGGAAAACTTTCCGGACAT	0.612													49	109					0	0	0	0	C	31025860	T	C	31025860	2	2	232	1	0	0	0	0	0	0	0	1	18069	1596	56	5		5	ZNF536	19	31025860	Silent	SNP	T	TCGA-CV-5441-01A-01D-1512-08	8439601	31025860	28103123	365	42466											
ZNF30	90075	broad.mit.edu	37	chr19	35435633	35435633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attccttactgaacatcagcGggtacacactggtgagaaac	13	9	9	10	1	1	2	1	2	0	1	2	3	2	2	1	2	5	1	1	2	4	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:35435633G>A	ENST00000439785.1	+	5	2210	c.1766G>A	c.(1765-1767)cGg>cAg	p.R589Q	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.R588Q|ZNF30_ENST00000426813.2_Missense_Mutation_p.R507Q|ZNF30_ENST00000303586.7_Missense_Mutation_p.R589Q	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GAACATCAGCGGGTACACACT	0.403													15	26					0	0	0	0	A	35435633	G	A	35435633	3	1	232	1	0	0	0	0	1	0	0	0	17925	1116	39	1	1780	1	ZNF30	19	35435633	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	4409773	35435633	23693350	366	42467											
NFKBID	84807	broad.mit.edu	37	chr19	36381394	36381394	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttgctcttgatctccTgaggggaagggaatggcaga	8	12	14	7	0	3	3	0	2	3	1	4	5	3	5	1	4	1	3	1	4	2	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:36381394T>A	ENST00000396901.1	-	10	1180		c.e10-2		NFKBID_ENST00000352614.2_Splice_Site|NFKBID_ENST00000340950.2_Splice_Site|NFKBID_ENST00000606253.1_Splice_Site	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta						inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CTTGATCTCCTGAGGGGAAGG	0.617													49	87					0	0	0	0	A	36381394	T	A	36381394	5	1	232	1	0	0	0	0	0	0	1	0	10449	1594	55	5	348	5	NFKBID	19	36381394	Splice_Site	SNP	T	TCGA-CV-5441-01A-01D-1512-08	945761	36381394	22747589	367	42468											
SIPA1L3	23094	broad.mit.edu	37	chr19	38610472	38610472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaccacatcttcctacagGcgacagagggttctgtggag	10	8	13	10	1	2	2	0	0	2	2	3	5	3	3	2	3	1	1	2	3	1	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:38610472G>T	ENST00000222345.6	+	9	3327	c.2818G>T	c.(2818-2820)Gcg>Tcg	p.A940S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	940					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTTCCTACAGGCGACAGAGGG	0.542													22	44					3.10358e-05	3.36813e-05	1	0	T	38610472	G	T	38610472	3	4	232	1	0	0	0	0	1	0	0	0	14419	1203	42	4	2844	4	SIPA1L3	19	38610472	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2229078	38610472	20518511	368	42469											
SERTAD1	29950	broad.mit.edu	37	chr19	40929371	40929371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaccgctgtgtggccaGgatctagccaccaggagtcg	7	7	14	13	2	1	0	0	0	1	0	2	2	1	2	5	3	2	1	5	3	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:40929371G>A	ENST00000357949.4	-	2	241	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	28					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGTGTGGCCAGGATCTAGCCA	0.627													12	50					0	0	0	0	A	40929371	G	A	40929371	3	1	232	1	0	0	0	0	1	0	0	0	14207	1000	35	4	631	4	SERTAD1	19	40929371	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2318899	40929371	18199612	369	42470											
ERCC2	2068	broad.mit.edu	37	chr19	45872213	45872213	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctctggcacagttcttGagcagtagatgagtttggtc	9	13	11	8	0	2	3	0	2	2	1	4	3	2	3	0	2	1	5	0	2	2	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:45872213G>T	ENST00000391945.4	-	4	298	c.221C>A	c.(220-222)tCa>tAa	p.S74*	ERCC2_ENST00000221481.6_Nonsense_Mutation_p.S74*|ERCC2_ENST00000391940.4_Nonsense_Mutation_p.S50*|ERCC2_ENST00000485403.2_Nonsense_Mutation_p.S50*|ERCC2_ENST00000391944.3_Nonsense_Mutation_p.S74*	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	74	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CACAGTTCTTGAGCAGTAGAT	0.582			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				29	75					4.22769e-11	5.0616e-11	1	0	T	45872213	G	T	45872213	4	4	232	1	0	0	0	0	0	1	0	0	5251	1294	45	2	2198	2	ERCC2	19	45872213	Nonsense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	4942842	45872213	13256770	370	42471											
FOXA3	3171	broad.mit.edu	37	chr19	46376291	46376291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctactaccagggcctctattCccgctctttgcttaatgcat	7	14	6	14	1	2	0	0	0	2	0	3	0	3	0	3	1	4	3	3	1	4	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:46376291C>T	ENST00000302177.2	+	2	1225	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	343					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.S343Y(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GGCCTCTATTCCCGCTCTTTG	0.582													10	18					0	0	0	0	T	46376291	C	T	46376291	3	4	232	1	0	0	0	0	1	0	0	0	6036	855	30	2	1034	2	FOXA3	19	46376291	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	504078	46376291	12752692	371	42472											
TRPM4	54795	broad.mit.edu	37	chr19	49684706	49684706	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaactctttcggggggaCatccaatggcgggtgagggg	8	8	18	7	2	1	2	0	2	1	0	3	3	2	3	1	7	1	0	1	7	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:49684706C>T	ENST00000252826.5	+	10	1377	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	TRPM4_ENST00000427978.2_Silent_p.D417D|TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000601347.1_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	417					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TTCGGGGGGACATCCAATGGC	0.562													22	44					0	0	0	0	T	49684706	C	T	49684706	2	4	232	1	0	0	0	0	0	0	0	1	16683	477	17	4		4	TRPM4	19	49684706	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	3308415	49684706	9444277	372	42473											
POLD1	5424	broad.mit.edu	37	chr19	50919882	50919882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggggggaccacacgcGctgcaagacggtgctcacgg	8	4	17	12	4	1	1	1	0	0	1	1	2	1	2	1	5	3	4	1	5	1	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:50919882G>A	ENST00000440232.2	+	24	3022	c.2969G>A	c.(2968-2970)cGc>cAc	p.R990H	POLD1_ENST00000595904.1_Missense_Mutation_p.R1016H|POLD1_ENST00000599857.1_Missense_Mutation_p.R990H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	990					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GACCACACGCGCTGCAAGACG	0.706								DNA polymerases (catalytic subunits)					3	7					0	0	0	0	A	50919882	G	A	50919882	3	1	232	1	0	0	0	0	1	0	0	0	12262	1087	38	1	3059	1	POLD1	19	50919882	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1235176	50919882	8209101	373	42474											
ZNF616	90317	broad.mit.edu	37	chr19	52620044	52620044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatccccttgactatgttGatctcttttaccagtaagat	10	16	5	10	0	1	3	0	2	1	1	3	3	2	3	3	0	2	2	3	0	4	7			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:52620044G>T	ENST00000600228.1	-	4	634	c.373C>A	c.(373-375)Caa>Aaa	p.Q125K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGACTATGTTGATCTCTTTTA	0.378													64	165					1.55088e-19	2.13605e-19	1	0	T	52620044	G	T	52620044	3	4	232	1	0	0	0	0	1	0	0	0	18136	1299	45	2	1976	2	ZNF616	19	52620044	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	1700162	52620044	6508939	374	42475											
CACNG6	59285	broad.mit.edu	37	chr19	54515364	54515364	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgatcctgctgttgggggCcggctgctttctgctgctca	2	13	13	13	1	2	1	1	1	1	0	3	1	3	1	3	3	4	6	3	3	0	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:54515364C>A	ENST00000252729.2	+	4	1294	c.704C>A	c.(703-705)gCc>gAc	p.A235D	CACNG6_ENST00000352529.1_Missense_Mutation_p.A164D|CACNG6_ENST00000346968.2_Missense_Mutation_p.A189D	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	235						voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A235V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CTGTTGGGGGCCGGCTGCTTT	0.701													39	52					1.61572e-30	2.43057e-30	1	0	A	54515364	C	A	54515364	3	1	232	1	0	0	0	0	1	0	0	0	2586	739	26	4	718	4	CACNG6	19	54515364	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1895320	54515364	4613619	375	42476											
LILRB1	10859	broad.mit.edu	37	chr19	55148089	55148089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggcggaagaggacaggCagatggacactgaggtgagt	13	4	18	6	1	0	4	0	2	0	2	0	8	0	7	0	6	0	1	0	6	1	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:55148089C>A	ENST00000396331.1	+	15	2149	c.1792C>A	c.(1792-1794)Cag>Aag	p.Q598K	LILRB1_ENST00000396317.1_Missense_Mutation_p.Q582K|LILRB1_ENST00000434867.2_Missense_Mutation_p.Q598K|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q600K|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q600K|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q598K|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q649K|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q599K|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q582K|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q599K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	598					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGAGGACAGGCAGATGGACAC	0.612										HNSCC(37;0.09)			10	44					2.27111e-07	2.58847e-07	1	0	A	55148089	C	A	55148089	3	1	232	1	0	0	0	0	1	0	0	0	8844	711	25	4	1848	4	LILRB1	19	55148089	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	632725	55148089	3980894	376	42477											
ZNF579	163033	broad.mit.edu	37	chr19	56090061	56090061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccgtggacgcggcggtgCtggcggaggtaggaggcgag	5	4	24	8	6	0	0	0	0	0	0	0	4	0	3	1	9	1	2	1	9	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:56090061C>A	ENST00000325421.4	-	2	973	c.945G>T	c.(943-945)caG>caT	p.Q315H		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CGCGGCGGTGCTGGCGGAGGT	0.736													3	22					1.024e-07	1.16965e-07	1	0	A	56090061	C	A	56090061	3	1	232	1	0	0	0	0	1	0	0	0	18106	796	28	4	747	4	ZNF579	19	56090061	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	941972	56090061	3038922	377	42478											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56703218	56703218	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accaaggcctcacacactcaCctgcctcctggacagtgcag	10	6	8	17	0	2	0	2	0	0	0	3	1	3	1	5	2	2	1	5	2	1	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:56703218C>A	ENST00000586855.2	-	3	902		c.e3+1		ZSCAN5B_ENST00000358992.3_Splice_Site			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CACACACTCACCTGCCTCCTG	0.607													12	31					1.5739e-10	1.86721e-10	1	0	A	56703218	C	A	56703218	5	1	232	1	0	0	0	0	0	0	1	0	18330	521	18	4	910	4	ZSCAN5B	19	56703218	Splice_Site	SNP	C	TCGA-CV-5441-01A-01D-1512-08	613157	56703218	2425765	378	42479											
ZNF835	90485	broad.mit.edu	37	chr19	57176560	57176560	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagggcgacgctcaagagtcCctccatcctcgatccctggg	7	7	12	15	3	1	1	1	0	0	1	6	4	5	1	4	2	0	1	4	2	1	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:57176560C>A	ENST00000537055.2	-	2	238	c.7G>T	c.(7-9)Gga>Tga	p.G3*		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTCAAGAGTCCCTCCATCCTC	0.498													16	57					2.35188e-11	2.84186e-11	1	0	A	57176560	C	A	57176560	4	1	232	1	0	0	0	0	0	1	0	0	18279	632	22	4	1608	4	ZNF835	19	57176560	Nonsense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	473342	57176560	1952423	379	42480											
TGM3	7053	broad.mit.edu	37	chr20	2308958	2308958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtacatcagcaccaaggCggtgggcagcaatgctcgca	11	5	13	12	2	1	0	1	0	0	0	2	0	1	0	1	4	4	6	1	4	3	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:2308958C>T	ENST00000381458.5	+	9	1343	c.1280C>T	c.(1279-1281)gCg>gTg	p.A427V		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	427					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AGCACCAAGGCGGTGGGCAGC	0.572													19	48					0	0	0	0	T	2308958	C	T	2308958	3	4	232	1	0	0	0	0	1	0	0	0	15925	768	27	1	1314	1	TGM3	20	2308958	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08		2308958	60716562	380	42481											
TGM6	343641	broad.mit.edu	37	chr20	2411213	2411213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaagcttctggtggagaaGgacattactctagaggactt	12	10	13	6	0	2	3	0	0	2	3	2	7	2	5	0	4	2	1	0	4	4	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:2411213G>T	ENST00000202625.2	+	11	1861	c.1800G>T	c.(1798-1800)aaG>aaT	p.K600N	TGM6_ENST00000381423.1_Missense_Mutation_p.K600N	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	600					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TGGTGGAGAAGGACATTACTC	0.512													22	59					0.000175454	0.000187295	1	0	T	2411213	G	T	2411213	3	4	232	1	0	0	0	0	1	0	0	0	15928	991	35	4	1842	4	TGM6	20	2411213	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	102255	2411213	60614307	381	42482											
TMC2	117532	broad.mit.edu	37	chr20	2592857	2592857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgctaatgaagagacaatAaagaacatcactcactggac	17	8	7	9	0	2	3	2	1	0	2	2	5	2	4	0	1	2	1	0	1	6	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:2592857A>G	ENST00000358864.1	+	13	1629	c.1614A>G	c.(1612-1614)atA>atG	p.I538M	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	538						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGAGACAATAAAGAACATCA	0.502													49	153					0	0	0	0	G	2592857	A	G	2592857	3	3	232	1	0	0	0	0	1	0	0	0	16079	352	13	5	1664	5	TMC2	20	2592857	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	181644	2592857	60432663	382	42483											
CDS2	8760	broad.mit.edu	37	chr20	5166473	5166473	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtggtgtttggccttctgGtaggtggtggctttcagctg	2	16	16	7	0	2	0	1	0	1	0	2	0	2	0	1	6	1	4	1	6	1	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:5166473G>A	ENST00000460006.1	+	9	1135		c.e9+1		CDS2_ENST00000535100.1_Splice_Site|CDS2_ENST00000379070.3_Splice_Site|CDS2_ENST00000379062.4_Splice_Site	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2						phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						TGGCCTTCTGGTAGGTGGTGG	0.557													43	88					0	0	0	0	A	5166473	G	A	5166473	5	1	232	1	0	0	0	0	0	0	1	0	3207	1275	44	4	863	4	CDS2	20	5166473	Splice_Site	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2573616	5166473	57859047	383	42484											
PROKR2	128674	broad.mit.edu	37	chr20	5283103	5283103	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaccagagctcccgggaGatcctggcatagcacagggt	10	7	13	11	1	0	3	0	1	0	2	2	4	2	3	3	3	3	3	3	3	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:5283103G>T	ENST00000546004.1	-	3	984	c.738C>A	c.(736-738)atC>atA	p.I246I	PROKR2_ENST00000217270.3_Silent_p.I246I			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	246						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GCTCCCGGGAGATCCTGGCAT	0.587										HNSCC(71;0.22)			34	66					9.17885e-22	1.3127e-21	1	0	T	5283103	G	T	5283103	2	4	232	1	0	0	0	0	0	0	0	1	12633	932	33	2		2	PROKR2	20	5283103	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	116630	5283103	57742417	384	42485											
HAO1	54363	broad.mit.edu	37	chr20	7866414	7866414	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccttggcgccaagagccAgagctttcagaacatcagtg	11	7	11	12	1	2	3	2	0	0	3	2	3	2	3	3	1	4	1	3	1	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:7866414A>C	ENST00000378789.3	-	6	962	c.911T>G	c.(910-912)cTg>cGg	p.L304R		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	304	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCCAAGAGCCAGAGCTTTCAG	0.488													59	146					0	0	0	0	C	7866414	A	C	7866414	3	2	232	1	0	0	0	0	1	0	0	0	7001	188	7	5	213	5	HAO1	20	7866414	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	2583311	7866414	55159106	385	42486											
SEL1L2	80343	broad.mit.edu	37	chr20	13839934	13839934	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgcctaagccgtgttcatAcatataagccagattgaaca	14	10	8	9	1	1	2	1	1	0	1	1	3	1	2	3	0	5	1	3	0	5	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:13839934A>G	ENST00000284951.5	-	18	1866	c.1792T>C	c.(1792-1794)Tat>Cat	p.Y598H	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	598						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CCGTGTTCATACATATAAGCC	0.403													27	58					0	0	0	0	G	13839934	A	G	13839934	3	3	232	1	0	0	0	0	1	0	0	0	14098	391	14	5	286	5	SEL1L2	20	13839934	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	5973520	13839934	49185586	386	42487											
SSTR4	6754	broad.mit.edu	37	chr20	23017173	23017173	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactactatgccactgctctCaagagcaaaggtggggcagg	11	7	13	10	0	1	1	1	0	1	1	2	2	1	1	1	4	4	3	1	4	4	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:23017173C>A	ENST00000255008.3	+	1	1117	c.1053C>A	c.(1051-1053)ctC>ctA	p.L351L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	351					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCACTGCTCTCAAGAGCAAAG	0.652													39	59					9.45814e-24	1.37909e-23	1	0	A	23017173	C	A	23017173	2	1	232	1	0	0	0	0	0	0	0	1	15290	813	29	2		2	SSTR4	20	23017173	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	9177239	23017173	40008347	387	42488											
SSTR4	6754	broad.mit.edu	37	chr20	23017264	23017264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccgcaagcgcatccccCtcaccaggaccaccaccttc	8	4	7	22	3	1	0	1	0	0	0	3	1	2	1	8	2	1	2	8	2	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:23017264C>T	ENST00000255008.3	+	1	1208	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	382					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCGCATCCCCCTCACCAGGAC	0.657													40	88					0	0	0	0	T	23017264	C	T	23017264	3	4	232	1	0	0	0	0	1	0	0	0	15290	681	24	4	1146	4	SSTR4	20	23017264	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	91	23017264	40008256	388	42489											
MAPRE1	22919	broad.mit.edu	37	chr20	31434486	31434486	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggatttctacttcggaaaGctacggaacattgaattgat	13	12	10	6	2	1	2	0	2	1	0	2	5	1	5	0	3	4	1	0	3	5	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:31434486G>A	ENST00000375571.5	+	6	799	c.660G>A	c.(658-660)aaG>aaA	p.K220K	RP5-1085F17.4_ENST00000565572.1_RNA	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	220	APC-binding.|DCTN1-binding.|EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						ACTTCGGAAAGCTACGGAACA	0.423													69	163					0	0	0	0	A	31434486	G	A	31434486	2	1	232	1	0	0	0	0	0	0	0	1	9363	962	34	4		4	MAPRE1	20	31434486	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	8417222	31434486	31591034	389	42490											
EPB41L1	2036	broad.mit.edu	37	chr20	34778267	34778267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagccaagagactgtggaaGgtctgcatcgagcatcatac	12	8	11	10	1	3	1	2	0	1	1	4	4	3	2	1	2	4	2	1	2	3	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:34778267G>T	ENST00000338074.2	+	10	1256	c.1095G>T	c.(1093-1095)aaG>aaT	p.K365N	EPB41L1_ENST00000441639.1_Missense_Mutation_p.K303N|EPB41L1_ENST00000373946.3_Missense_Mutation_p.K334N|EPB41L1_ENST00000202028.5_Missense_Mutation_p.K303N|EPB41L1_ENST00000373941.1_Missense_Mutation_p.K365N|EPB41L1_ENST00000373950.2_Missense_Mutation_p.K268N	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	365	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GACTGTGGAAGGTCTGCATCG	0.542													9	28					0.000442599	0.000464863	1	0	T	34778267	G	T	34778267	3	4	232	1	0	0	0	0	1	0	0	0	5190	991	35	4	1129	4	EPB41L1	20	34778267	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	3343781	34778267	28247253	390	42491											
PPP1R16B	26051	broad.mit.edu	37	chr20	37464725	37464725	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgcaagcgaaagcatgagCggaagcgcagcacgggcggc	12	1	16	12	6	0	1	0	1	0	0	0	3	0	2	1	3	5	4	1	3	3	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:37464725C>A	ENST00000299824.1	+	2	346	c.157C>A	c.(157-159)Cgg>Agg	p.R53R	PPP1R16B_ENST00000373331.2_Silent_p.R53R	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	53					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAAGCATGAGCGGAAGCGCAG	0.677													13	22					4.3838e-07	4.96387e-07	1	0	A	37464725	C	A	37464725	2	1	232	1	0	0	0	0	0	0	0	1	12442	759	27	3		3	PPP1R16B	20	37464725	Silent	SNP	C	TCGA-CV-5441-01A-01D-1512-08	2686458	37464725	25560795	391	42492											
PTPRT	11122	broad.mit.edu	37	chr20	41100930	41100930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcagtctgcaccaccaGctcctcgctctccattcggc	5	11	6	19	2	3	0	1	0	2	0	8	0	5	0	5	1	2	3	5	1	0	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:41100930G>T	ENST00000373198.3	-	8	1661	c.1426C>A	c.(1426-1428)Ctg>Atg	p.L476M	PTPRT_ENST00000356100.2_Missense_Mutation_p.L476M|PTPRT_ENST00000373184.1_Missense_Mutation_p.L476M|PTPRT_ENST00000373193.3_Missense_Mutation_p.L476M|PTPRT_ENST00000373187.1_Missense_Mutation_p.L476M|PTPRT_ENST00000373201.1_Missense_Mutation_p.L476M|PTPRT_ENST00000373190.1_Missense_Mutation_p.L476M	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	476	Fibronectin type-III 2.				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)				TGCACCACCAGCTCCTCGCTC	0.582													43	83					5.73435e-26	8.45574e-26	1	0	T	41100930	G	T	41100930	3	4	232	1	0	0	0	0	1	0	0	0	12894	962	34	4	3056	4	PTPRT	20	41100930	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	3636205	41100930	21924590	392	42493											
PTPRT	11122	broad.mit.edu	37	chr20	41419980	41419980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggcccctgggctggacCtgtcacggctggagaagtag	8	7	15	11	1	2	1	2	0	0	1	2	3	2	2	3	5	0	3	3	5	3	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:41419980C>A	ENST00000373198.3	-	3	576	c.341G>T	c.(340-342)aGg>aTg	p.R114M	PTPRT_ENST00000356100.2_Missense_Mutation_p.R114M|PTPRT_ENST00000373184.1_Missense_Mutation_p.R114M|PTPRT_ENST00000373193.3_Missense_Mutation_p.R114M|PTPRT_ENST00000373187.1_Missense_Mutation_p.R114M|PTPRT_ENST00000373201.1_Missense_Mutation_p.R114M|PTPRT_ENST00000373190.1_Missense_Mutation_p.R114M	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	114	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	p.R114K(1)		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)				TGGGCTGGACCTGTCACGGCT	0.602													27	69					9.78306e-22	1.39529e-21	1	0	A	41419980	C	A	41419980	3	1	232	1	0	0	0	0	1	0	0	0	12894	681	24	4	4161	4	PTPRT	20	41419980	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	319050	41419980	21605540	393	42494											
BAGE2	85319	broad.mit.edu	37	chr21	11039369	11039369	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatgcttcacttcagaaGacattttcatttcttcacta	13	16	3	9	0	5	2	4	0	1	2	5	2	5	2	0	0	1	1	0	0	4	8			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:11039369G>T	ENST00000470054.1	-	0	834									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACTTCAGAAGACATTTTCAT	0.348													24	441					3.08376e-08	3.54565e-08	1	0	T	11039369	G	T	11039369	1	4	232	0	1	0	0	0	0	0	0	0	1296	957	33	2		2	BAGE2	21	11039369	RNA	SNP	G	TCGA-CV-5441-01A-01D-1512-08		11039369	37090526	394	42495											
NCAM2	4685	broad.mit.edu	37	chr21	22849700	22849700	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccagtggaccatggggtAtgaagttcagattacagctg	10	11	12	8	0	2	2	1	1	1	1	3	3	2	3	2	3	2	3	2	3	3	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:22849700A>G	ENST00000400546.1	+	15	2234	c.1985A>G	c.(1984-1986)tAt>tGt	p.Y662C	NCAM2_ENST00000284894.7_Missense_Mutation_p.Y520C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	662	Fibronectin type-III 2.			YEVQIT -> MKFRLP (in Ref. 1; AAB80803).	neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ACCATGGGGTATGAAGTTCAG	0.403													34	49					0	0	0	0	G	22849700	A	G	22849700	3	3	232	1	0	0	0	0	1	0	0	0	10273	449	16	5	2043	5	NCAM2	21	22849700	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	11810331	22849700	25280195	395	42496											
ADAMTS5	11096	broad.mit.edu	37	chr21	28306893	28306893	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcttggtcagacagacCatctggccctggcgtaccac	8	9	10	14	1	3	2	1	0	2	2	3	2	3	2	3	3	2	2	3	3	1	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:28306893C>A	ENST00000284987.5	-	4	1702	c.1581G>T	c.(1579-1581)atG>atT	p.M527I	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	527	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCAGACAGACCATCTGGCCCT	0.572													35	73					1.26612e-14	1.59256e-14	1	0	A	28306893	C	A	28306893	3	1	232	1	0	0	0	0	1	0	0	0	269	594	21	4	1231	4	ADAMTS5	21	28306893	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	5457193	28306893	19823002	396	42497											
BACH1	571	broad.mit.edu	37	chr21	30693704	30693704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaaagatgtgctgtgcGatgtcaccatctttgtggag	10	11	14	6	1	2	2	1	0	1	2	2	5	2	4	1	2	2	1	1	2	2	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:30693704G>T	ENST00000399921.1	+	2	346	c.103G>T	c.(103-105)Gat>Tat	p.D35Y	BACH1_ENST00000286800.3_Missense_Mutation_p.D35Y	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	35	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGTGCTGTGCGATGTCACCAT	0.522													52	159					1.66251e-12	2.03715e-12	1	0	T	30693704	G	T	30693704	3	4	232	1	0	0	0	0	1	0	0	0	1287	1058	37	3	105	3	BACH1	21	30693704	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	2386811	30693704	17436191	397	42498											
KRTAP19-3	337970	broad.mit.edu	37	chr21	31864055	31864055	+	Missense_Mutation	SNP	C	C	A																															agaatccagagaatccatatCctccatagtatgatgggcgg																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:31864055C>A	ENST00000334063.4	-	1	220	c.221G>T	c.(220-222)gGa>gTa	p.G74V		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	74						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						GAATCCATATCCTCCATAGTA	0.468													68	145					3.13296e-38	4.95578e-38	1	0	A	31864055	C	A	31864055	3	1	232	1	0	0	0	0	1	0	0	0	8582	855	30	2	28	2	KRTAP19-3	21	31864055	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1170351	31864055	16265840	398	42499	332	2									
KRTAP19-3	337970	broad.mit.edu	37	chr21	31864056	31864056	+	Nonsense_Mutation	SNP	C	C	A																															gaatccagagaatccatatcCtccatagtatgatgggcggt																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:31864056C>A	ENST00000334063.4	-	1	219	c.220G>T	c.(220-222)Gga>Tga	p.G74*		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	74						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						AATCCATATCCTCCATAGTAT	0.473													67	147					1.40369e-38	2.22713e-38	1	0	A	31864056	C	A	31864056	4	1	232	1	0	0	0	0	0	1	0	0	8582	690	24	4	29	4	KRTAP19-3	21	31864056	Nonsense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	1	31864056	16265839	399	42500	332	2									
COL6A2	1292	broad.mit.edu	37	chr21	47537349	47537349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcggacctcctggctgcaaGggagaccctggaaaccgggt	9	6	14	12	2	0	1	0	0	0	1	2	4	1	3	4	5	2	2	4	5	2	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:47537349G>A	ENST00000300527.4	+	11	1139	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	COL6A2_ENST00000357838.4_Silent_p.K345K|COL6A2_ENST00000397763.1_Silent_p.K345K|COL6A2_ENST00000310645.5_Silent_p.K345K|COL6A2_ENST00000409416.1_Silent_p.K345K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	345	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGCTGCAAGGGAGACCCTG	0.672													15	44					0	0	0	0	A	47537349	G	A	47537349	2	1	232	1	0	0	0	0	0	0	0	1	3730	991	35	4		4	COL6A2	21	47537349	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	15673293	47537349	592546	400	42501											
ZNF280A	129025	broad.mit.edu	37	chr22	22868460	22868460	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataccacttgatcctggctGaactgaagtttgaataataa	14	12	7	8	0	0	4	0	4	0	0	1	4	1	4	2	1	2	2	2	1	6	5			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:22868460G>A	ENST00000302097.3	-	2	1747	c.1495C>T	c.(1495-1497)Cag>Tag	p.Q499*		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GATCCTGGCTGAACTGAAGTT	0.413													47	99					0	0	0	0	A	22868460	G	A	22868460	4	1	232	1	0	0	0	0	0	1	0	0	17909	1299	45	2	137	2	ZNF280A	22	22868460	Nonsense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08		22868460	28436106	401	42502											
ZNF280A	129025	broad.mit.edu	37	chr22	22869368	22869368	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagacatatctgaagggAccacagctaaagaaggtacc	17	6	10	8	0	1	4	0	1	1	3	1	5	1	5	2	2	2	2	2	2	8	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:22869368A>C	ENST00000302097.3	-	2	839	c.587T>G	c.(586-588)gTc>gGc	p.V196G		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATCTGAAGGGACCACAGCTAA	0.438													18	182					0	0	0	0	C	22869368	A	C	22869368	3	2	232	1	0	0	0	0	1	0	0	0	17909	275	10	5	1045	5	ZNF280A	22	22869368	Missense_Mutation	SNP	A	TCGA-CV-5441-01A-01D-1512-08	908	22869368	28435198	402	42503											
TMPRSS6	164656	broad.mit.edu	37	chr22	37462243	37462243	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaggaaccagcggccactGagtgccttgcacaccagcgg	9	4	13	15	2	0	1	0	1	0	0	0	2	0	2	5	3	5	1	5	3	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:37462243G>A	ENST00000381792.2	-	19	2492	c.2352C>T	c.(2350-2352)ctC>ctT	p.L784L	TMPRSS6_ENST00000406725.1_Silent_p.L762L|TMPRSS6_ENST00000406856.1_Silent_p.L784L|TMPRSS6_ENST00000346753.3_Silent_p.L771L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	771	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGCGGCCACTGAGTGCCTTGC	0.622													12	28					0	0	0	0	A	37462243	G	A	37462243	2	1	232	1	0	0	0	0	0	0	0	1	16345	1277	45	2		2	TMPRSS6	22	37462243	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	14592875	37462243	13842323	403	42504											
RAC2	5880	broad.mit.edu	37	chr22	37627347	37627347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcagtttctcgatggtGtccttgtcgtcccgcaggtc	3	15	10	13	3	2	0	1	0	1	0	8	1	5	0	3	2	0	2	3	2	0	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:37627347G>T	ENST00000249071.6	-	5	493	c.372C>A	c.(370-372)gaC>gaA	p.D124E	RAC2_ENST00000406508.1_Missense_Mutation_p.D80E|RAC2_ENST00000405484.1_Missense_Mutation_p.D117E	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	124					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCTCGATGGTGTCCTTGTCGT	0.637													35	54					4.65686e-17	6.07721e-17	1	0	T	37627347	G	T	37627347	3	4	232	1	0	0	0	0	1	0	0	0	13057	1368	48	4	214	4	RAC2	22	37627347	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	165104	37627347	13677219	404	42505											
ELFN2	114794	broad.mit.edu	37	chr22	37769436	37769436	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctcgtagtacagggcGggaaagctgtgccggtgctc	6	8	14	13	3	0	0	0	0	0	0	3	1	1	1	3	3	4	4	3	3	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:37769436G>A	ENST00000402918.1	-	3	2924	c.2139C>T	c.(2137-2139)ccC>ccT	p.P713P	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.P713P	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	713						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGTACAGGGCGGGAAAGCTGT	0.706													7	13					0	0	0	0	A	37769436	G	A	37769436	2	1	232	1	0	0	0	0	0	0	0	1	5096	1103	39	1		1	ELFN2	22	37769436	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	142089	37769436	13535130	405	42506											
CELSR1	9620	broad.mit.edu	37	chr22	46930098	46930098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcattgtcattaatgtcCaagatggtcacctggatttc	9	13	11	8	0	2	1	2	0	0	1	4	2	3	2	2	4	0	1	2	4	2	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:46930098C>A	ENST00000262738.3	-	1	2969	c.2970G>T	c.(2968-2970)ttG>ttT	p.L990F	CELSR1_ENST00000395964.1_Missense_Mutation_p.L990F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	990	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATTAATGTCCAAGATGGTCA	0.547													46	90					8.04919e-23	1.16068e-22	1	0	A	46930098	C	A	46930098	3	1	232	1	0	0	0	0	1	0	0	0	3250	593	21	4	6214	4	CELSR1	22	46930098	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	9160662	46930098	4374468	406	42507											
ZBED4	9889	broad.mit.edu	37	chr22	50279075	50279075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggccggaccatcagccggGggaagaagccgactaacttg	10	5	15	11	3	1	1	1	0	0	1	1	4	1	3	4	4	3	0	4	4	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:50279075G>T	ENST00000216268.4	+	2	2242	c.1765G>T	c.(1765-1767)Ggg>Tgg	p.G589W		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	589						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CATCAGCCGGGGGAAGAAGCC	0.517													38	75					2.45108e-15	3.11305e-15	1	0	T	50279075	G	T	50279075	3	4	232	1	0	0	0	0	1	0	0	0	17615	1232	43	4	1767	4	ZBED4	22	50279075	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	3348977	50279075	1025491	407	42508											
SBF1	6305	broad.mit.edu	37	chr22	50899572	50899589	+	Splice_Site	DEL	GCGCACCGCGCCCCACCT	GCGCACCGCGCCCCACCT	-																															gggggatgagagccccacccGcgcaccgcgccccacctgga																								rs115010488	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:50899572_50899589delGCGCACCGCGCCCCACCT	ENST00000380817.2	-	23	3149_3151	c.2967_splice	c.e23+1	p.L990_splice	SBF1_ENST00000348911.6_Splice_Site_p.L991_splice|SBF1_ENST00000390679.3_Splice_Site_p.L990_splice	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	990					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGCCCCACCCGCGCACCGCGCCCCACCTGGAATGTGCA	0.624													9	28	---	---	---	---					-	50899589	GCGCACCGCGCCCCACCT	-	50899572	8	5	232	1	0	1	0	1	0	0	1	0	13944	1102	38	0		0	SBF1	22	50899572	Splice_Site	DEL	GCGCACCGCGCCCCACCT	TCGA-CV-5441-01A-01D-1512-08	620497	50899572	404994	408	42509											
SHANK3	85358	broad.mit.edu	37	chr22	51143509	51143509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggaagccagaagaggacGgggctcggcgcagaggtgag	12	2	19	8	3	0	4	0	1	0	3	1	6	0	6	1	6	1	2	1	6	3	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:51143509G>T	ENST00000414786.2	+	16	2199	c.1972G>T	c.(1972-1974)Ggg>Tgg	p.G658W	SHANK3_ENST00000445220.2_Missense_Mutation_p.G673W|SHANK3_ENST00000262795.3_Missense_Mutation_p.G688W			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	688										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGAAGAGGACGGGGCTCGGCG	0.587													21	62					1.2644e-06	1.42553e-06	1	0	T	51143509	G	T	51143509	3	4	232	1	0	0	0	0	1	0	0	0	14354	1116	39	3	2128	3	SHANK3	22	51143509	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	243937	51143509	161057	409	42510											
MSL3	10943	broad.mit.edu	37	chrX	11783734	11783734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctctgaggcggtccacgCgccacagtgccaactgtgac	8	7	12	14	3	1	2	0	2	1	0	3	2	2	2	3	2	2	0	3	2	1	0			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:11783734C>A	ENST00000337339.2	+	9	1084	c.1057C>A	c.(1057-1059)Cgc>Agc	p.R353S	MSL3_ENST00000312196.4_Missense_Mutation_p.R353S|MSL3_ENST00000361672.2_Missense_Mutation_p.R204S|MSL3_ENST00000398527.2_Missense_Mutation_p.R341S|MSL3_ENST00000380693.3_Missense_Mutation_p.R187S	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	353					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	p.R353C(2)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GCGGTCCACGCGCCACAGTGC	0.622													44	42					8.4772e-36	1.32886e-35	1	0	A	11783734	C	A	11783734	3	1	232	1	0	0	0	0	1	0	0	0	9949	768	27	3	1091	3	MSL3	23	11783734	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08		11783734	143486826	410	42511											
MAGEB2	4113	broad.mit.edu	37	chrX	30237175	30237175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaaagcctctgagggcCtcagtgttgtctttggcctt	7	13	11	10	0	4	2	2	1	2	1	4	2	4	2	3	2	1	1	3	2	2	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:30237175C>A	ENST00000378988.4	+	2	579	c.478C>A	c.(478-480)Ctc>Atc	p.L160I		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	160	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CTCTGAGGGCCTCAGTGTTGT	0.463													14	6					9.31168e-06	1.02763e-05	1	0	A	30237175	C	A	30237175	3	1	232	1	0	0	0	0	1	0	0	0	9245	681	24	4	480	4	MAGEB2	23	30237175	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	18453441	30237175	125033385	411	42512											
BCOR	54880	broad.mit.edu	37	chrX	39933957	39933957	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccttgtacatgttcagTgaatacttatttggcgagtc	10	14	10	7	1	1	1	1	1	0	0	2	2	1	1	1	2	2	2	1	2	5	6			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:39933957T>A	ENST00000342274.4	-	4	1004	c.642A>T	c.(640-642)tcA>tcT	p.S214S	BCOR_ENST00000378444.4_Silent_p.S214S|BCOR_ENST00000397354.3_Silent_p.S214S|BCOR_ENST00000378455.4_Silent_p.S214S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	214					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACATGTTCAGTGAATACTTAT	0.542			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						55	22					0	0	0	0	A	39933957	T	A	39933957	2	1	232	1	0	0	0	0	0	0	0	1	1390	1683	59	5		5	BCOR	23	39933957	Silent	SNP	T	TCGA-CV-5441-01A-01D-1512-08	9696782	39933957	115336603	412	42513											
MED14	9282	broad.mit.edu	37	chrX	40513656	40513656	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaaacctcttcagaatGttgctgaccatcatgggagc	10	11	9	11	0	4	2	2	1	2	1	4	3	4	3	2	1	4	3	2	1	2	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:40513656G>A	ENST00000324817.1	-	30	4369	c.4251C>T	c.(4249-4251)aaC>aaT	p.N1417N		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1417					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTTCAGAATGTTGCTGACCA	0.418													41	18					0	0	0	0	A	40513656	G	A	40513656	2	1	232	1	0	0	0	0	0	0	0	1	9501	1368	48	4		4	MED14	23	40513656	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	579699	40513656	114756904	413	42514											
KDM6A	7403	broad.mit.edu	37	chrX	44733171	44733172	+	Splice_Site	INS	-	-	G																															ctgtgtctgtctccacagccINSgcctctttgggttcgtgaga																										TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:44733171_44733172insG	ENST00000377967.4	+	2	204_205	c.161_splice	c.e2-1	p.P55_splice	KDM6A_ENST00000382899.4_Splice_Site_p.P55_splice|KDM6A_ENST00000543216.1_Splice_Site_p.P55_splice|KDM6A_ENST00000536777.1_Splice_Site_p.P55_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	55					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(8)|p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCTCCACAGCCGCCTCTTTGGG	0.649			"D, N, F, S"		"renal, oesophageal SCC, MM"								20	10	---	---	---	---					G	44733172	-	G	44733171	8	5	232	1	0	1	1	0	0	0	1	0	8189	666	23	0	169	0	KDM6A	23	44733171	Splice_Site	INS	-	TCGA-CV-5441-01A-01D-1512-08	4219515	44733171	110537389	414	42515											
SPIN4	139886	broad.mit.edu	37	chrX	62570269	62570269	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatccatcacaggagctcGcgccaggaccatacccttcc	10	7	8	16	2	1	0	1	0	0	0	4	2	3	2	5	2	2	2	5	2	2	3			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:62570269G>C	ENST00000374884.2	-	1	954	c.376C>G	c.(376-378)Cga>Gga	p.R126G	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000335144.3_Missense_Mutation_p.R144G			Q56A73	SPIN4_HUMAN	spindlin family, member 4	144					gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						ACAGGAGCTCGCGCCAGGACC	0.478													54	36					0	0	0	0	C	62570269	G	C	62570269	3	2	232	1	0	0	0	0	1	0	0	0	15146	1095	38	3	323	3	SPIN4	23	62570269	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	17837098	62570269	92700291	415	42516											
ZMYM3	9203	broad.mit.edu	37	chrX	70467681	70467681	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactccgcgctggcaggtcTgggagcagtaagtacaagtg	9	8	15	9	2	1	1	0	1	1	0	2	2	2	2	1	3	2	5	1	3	3	2			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:70467681T>G	ENST00000373998.1	-	12	2748	c.2051A>C	c.(2050-2052)cAg>cCg	p.Q684P	ZMYM3_ENST00000353904.2_Missense_Mutation_p.Q684P|ZMYM3_ENST00000314425.5_Missense_Mutation_p.Q684P|ZMYM3_ENST00000373984.3_Missense_Mutation_p.Q686P|ZMYM3_ENST00000373988.1_Missense_Mutation_p.Q686P|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	684					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGGCAGGTCTGGGAGCAGTA	0.532													19	5					0	0	0	0	G	70467681	T	G	70467681	3	3	232	1	0	0	0	0	1	0	0	0	17796	1580	55	5	2117	5	ZMYM3	23	70467681	Missense_Mutation	SNP	T	TCGA-CV-5441-01A-01D-1512-08	7897412	70467681	84802879	416	42517											
CXCR3	2833	broad.mit.edu	37	chrX	70836725	70836725	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtattggcagtgggtggcGttgaggcgctcgtcgtggtg	3	13	19	6	4	0	1	0	1	0	0	2	1	0	1	0	5	0	4	0	5	1	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:70836725G>A	ENST00000373691.4	-	2	901	c.738C>T	c.(736-738)aaC>aaT	p.N246N	CXCR3_ENST00000373693.3_Silent_p.N199N	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	199					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					AGTGGGTGGCGTTGAGGCGCT	0.662													7	3					0	0	0	0	A	70836725	G	A	70836725	2	1	232	1	0	0	0	0	0	0	0	1	4124	1136	40	1		1	CXCR3	23	70836725	Silent	SNP	G	TCGA-CV-5441-01A-01D-1512-08	369044	70836725	84433835	417	42518											
RLIM	51132	broad.mit.edu	37	chrX	73811532	73811532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctaggttggtcatcatcatCctcatttaagaggaaaaact	13	13	7	8	0	5	1	4	0	1	1	6	2	6	2	1	3	1	1	1	3	4	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:73811532C>T	ENST00000332687.6	-	4	1836	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	RLIM_ENST00000349225.2_Missense_Mutation_p.D540N	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	540					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCATCATCATCCTCATTTAAG	0.453													16	11					0	0	0	0	T	73811532	C	T	73811532	3	4	232	1	0	0	0	0	1	0	0	0	13475	855	30	2	260	2	RLIM	23	73811532	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	2974807	73811532	81459028	418	42519											
SH2D1A	4068	broad.mit.edu	37	chrX	123504071	123504071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccggaaaataaaaaatCtcatttcagcatttcagaag	17	12	5	7	1	3	1	3	0	1	1	5	2	4	2	1	1	1	1	1	1	6	4			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:123504071C>A	ENST00000371139.4	+	3	546	c.247C>A	c.(247-249)Ctc>Atc	p.L83I	SH2D1A_ENST00000470647.1_3'UTR|SH2D1A_ENST00000360027.4_Missense_Mutation_p.L83I|STAG2_ENST00000469481.1_Intron	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	83	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	p.L83V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AATAAAAAATCTCATTTCAGC	0.373													66	34					2.17656e-39	3.48516e-39	1	0	A	123504071	C	A	123504071	3	1	232	1	0	0	0	0	1	0	0	0	14317	913	32	2	257	2	SH2D1A	23	123504071	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	49692539	123504071	31766489	419	42520											
MAGEC1	9947	broad.mit.edu	37	chrX	140995750	140995750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgagagtcctctccagagtCctgtgatctccttctcctcc	5	13	7	16	0	3	3	0	2	3	2	9	4	6	3	6	0	0	0	6	0	0	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:140995750C>T	ENST00000285879.4	+	4	2846	c.2560C>T	c.(2560-2562)Cct>Tct	p.P854S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	854							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGAGTCCTGTGATCTC	0.507										HNSCC(15;0.026)			99	74					0	0	0	0	T	140995750	C	T	140995750	3	4	232	1	0	0	0	0	1	0	0	0	9249	855	30	2	2566	2	MAGEC1	23	140995750	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	17491679	140995750	14274810	420	42521											
AFF2	2334	broad.mit.edu	37	chrX	148037568	148037568	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaagtgtggagcttcatGacccaccaagaggccgcaac	14	5	11	11	1	1	3	1	1	0	2	1	4	1	4	3	2	2	2	3	2	4	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:148037568G>C	ENST00000370460.2	+	11	2472	c.1993G>C	c.(1993-1995)Gac>Cac	p.D665H	AFF2_ENST00000286437.5_Missense_Mutation_p.D306H|AFF2_ENST00000342251.3_Missense_Mutation_p.D632H|AFF2_ENST00000370457.5_Missense_Mutation_p.D632H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	665					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCTTCATGACCCACCAAG	0.488													56	45					0	0	0	0	C	148037568	G	C	148037568	3	2	232	1	0	0	0	0	1	0	0	0	357	1290	45	2	2090	2	AFF2	23	148037568	Missense_Mutation	SNP	G	TCGA-CV-5441-01A-01D-1512-08	7041818	148037568	7232992	421	42522											
ABCD1	215	broad.mit.edu	37	chrX	153009062	153009062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctggagcagcagctggCgggcattcccaagatgcagc	8	5	16	12	2	0	1	0	0	0	1	1	2	1	2	1	4	5	6	1	4	1	1			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:153009062C>A	ENST00000218104.3	+	10	2510	c.2111C>A	c.(2110-2112)gCg>gAg	p.A704E	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	704					fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGCTGGCGGGCATTCCC	0.682													4	2					2.0095e-06	2.25582e-06	1	0	A	153009062	C	A	153009062	3	1	232	1	0	0	0	0	1	0	0	0	60	768	27	3	2149	3	ABCD1	23	153009062	Missense_Mutation	SNP	C	TCGA-CV-5441-01A-01D-1512-08	4971494	153009062	2261498	422	42523											
ZBTB48	3104	broad.mit.edu	37	chr1	6648997	6648997	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccacctgcggaggcacatgGagatccacgaccgggtagag	10	4	14	13	3	0	2	0	0	0	2	1	5	1	3	4	4	1	2	4	4	1	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:6648997G>C	ENST00000377674.4	+	11	1950	c.1792G>C	c.(1792-1794)Gag>Cag	p.E598Q		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	598						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGCACATGGAGATCCACGA	0.662													37	112					0	0	0	0	C	6648997	G	C	6648997	3	2	233	1	0	0	0	0	1	0	0	0	17644	1175	41	2	1830	2	ZBTB48	1	6648997	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08		6648997	242601624	1	42524											
NPPA	4878	broad.mit.edu	37	chr1	11907385	11907385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccggtccagggaggcacctCagggagggggctgagagcag	8	3	19	11	1	1	1	1	1	0	1	2	4	2	3	3	6	1	3	3	6	0	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:11907385C>T	ENST00000376480.3	-	2	333	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.E29K	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	79					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGCACCTCAGGGAGGGGG	0.617													34	101					0	0	0	0	T	11907385	C	T	11907385	3	4	233	1	0	0	0	0	1	0	0	0	10662	835	29	2	228	2	NPPA	1	11907385	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	5258388	11907385	237343236	2	42525											
PRAMEF18	391003	broad.mit.edu	37	chr1	13474787	13474788	+	Frame_Shift_Ins	INS	-	-	G																															ggaccaaagaagatcctgttINSgggctcccttacttccctca																										TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:13474787_13474788insG	ENST00000376126.2	-	3	1340_1341	c.1341_1342insC	c.(1339-1344)ccacagfs	p.Q448fs		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	448										lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGATCCTGTTGGGCTCCCTTA	0.564													5	9	---	---	---	---					G	13474788	-	G	13474787	7	5	233	1	0	1	1	0	0	0	0	0	12510	1812	63	0	101	0	PRAMEF18	1	13474787	Frame_Shift_Ins	INS	-	TCGA-CV-5442-01A-01D-1512-08	1567402	13474787	235775834	3	42526											
C1orf172	126695	broad.mit.edu	37	chr1	27277965	27277965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctctttcgggtactaatgcGaatgatgccgcgtaccaggc	8	10	12	11	4	1	1	0	1	1	0	2	2	1	1	2	2	4	3	2	2	4	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:27277965G>A	ENST00000320567.5	-	2	995	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	303										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GTACTAATGCGAATGATGCCG	0.607													25	48					0	0	0	0	A	27277965	G	A	27277965	3	1	233	1	0	0	0	0	1	0	0	0	2032	1058	37	1	301	1	C1orf172	1	27277965	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	13803178	27277965	221972656	4	42527											
DNAJC8	22826	broad.mit.edu	37	chr1	28555483	28555483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaggacgggtcagtctttCaatctgatttttcgaagtta	10	14	9	8	2	4	1	2	1	2	0	5	3	4	2	1	2	0	1	1	2	3	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:28555483C>T	ENST00000263697.4	-	2	156	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	44					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGTCTTTCAATCTGATTT	0.378													43	111					0	0	0	0	T	28555483	C	T	28555483	3	4	233	1	0	0	0	0	1	0	0	0	4691	835	29	2	663	2	DNAJC8	1	28555483	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	1277518	28555483	220695138	5	42528											
KIF2C	11004	broad.mit.edu	37	chr1	45218850	45218850	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagtggctgaaataccattGaggatggtcagcgaggagat	12	8	15	6	1	1	3	1	2	0	1	1	6	1	4	1	4	2	2	1	4	2	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:45218850G>A	ENST00000372217.1	+	5	675	c.324G>A	c.(322-324)ttG>ttA	p.L108L	KIF2C_ENST00000493027.1_Intron|KIF2C_ENST00000372222.3_Silent_p.L49L|KIF2C_ENST00000372224.4_Silent_p.L162L|KIF2C_ENST00000372218.4_Intron			Q99661	KIF2C_HUMAN	kinesin family member 2C	162	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AAATACCATTGAGGATGGTCA	0.547													51	98					0	0	0	0	A	45218850	G	A	45218850	2	1	233	1	0	0	0	0	0	0	0	1	8350	1281	45	2		2	KIF2C	1	45218850	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	16663367	45218850	204031771	6	42529											
HS2ST1	9653	broad.mit.edu	37	chr1	87538628	87538628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttccagaaagggctattGcaagacacgaagtccgagaa	14	8	10	9	2	1	3	0	0	1	3	3	5	3	3	2	1	1	2	2	1	5	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:87538628G>A	ENST00000370550.5	+	2	499	c.136G>A	c.(136-138)Gca>Aca	p.A46T	HS2ST1_ENST00000356813.4_Missense_Mutation_p.A20T|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.A20T|HS2ST1_ENST00000370551.4_Missense_Mutation_p.A46T	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	46						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AAGGGCTATTGCAAGACACGA	0.398													14	42					0	0	0	0	A	87538628	G	A	87538628	3	1	233	1	0	0	0	0	1	0	0	0	7412	1319	46	4	142	4	HS2ST1	1	87538628	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	42319778	87538628	161711993	7	42530											
GBP2	2634	broad.mit.edu	37	chr1	89582907	89582907	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattaaagcttttacttttCttatcagtacctacaggaat	12	17	4	8	0	3	0	2	0	1	0	3	1	3	1	1	1	4	2	1	1	7	8			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:89582907C>T	ENST00000370466.3	-	6	904	c.636G>A	c.(634-636)aaG>aaA	p.K212K	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	212					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)		TTTTACTTTTCTTATCAGTAC	0.358													32	32					0	0	0	0	T	89582907	C	T	89582907	2	4	233	1	0	0	0	0	0	0	0	1	6323	912	32	2		2	GBP2	1	89582907	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	2044279	89582907	159667714	8	42531											
GBP5	115362	broad.mit.edu	37	chr1	89730647	89730647	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcagcaccaggttctttaGaccttcatggaagaaagaaa	14	9	10	8	0	3	3	2	0	1	3	3	4	3	4	2	3	1	2	2	3	4	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:89730647G>C	ENST00000343435.5	-	8	1407	c.871C>G	c.(871-873)Cta>Gta	p.L291V	GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.L291V	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	291						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		AGGTTCTTTAGACCTTCATGG	0.418													35	72					0	0	0	0	C	89730647	G	C	89730647	3	2	233	1	0	0	0	0	1	0	0	0	6326	933	33	2	909	2	GBP5	1	89730647	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	147740	89730647	159519974	9	42532											
MAGI3	260425	broad.mit.edu	37	chr1	114133210	114133210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaattatatgatgagagatGagactctggaaccactgccc	14	9	10	8	0	1	4	0	3	1	2	1	8	1	5	2	1	2	0	2	1	4	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:114133210G>A	ENST00000369615.1	+	5	930	c.868G>A	c.(868-870)Gag>Aag	p.E290K	MAGI3_ENST00000307546.9_Missense_Mutation_p.E290K|MAGI3_ENST00000369611.4_Missense_Mutation_p.E290K|MAGI3_ENST00000369617.4_Missense_Mutation_p.E290K	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	290					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGAGAGATGAGACTCTGGA	0.413													23	112					0	0	0	0	A	114133210	G	A	114133210	3	1	233	1	0	0	0	0	1	0	0	0	9261	1291	45	2	886	2	MAGI3	1	114133210	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	24402563	114133210	135117411	10	42533											
MAGI3	260425	broad.mit.edu	37	chr1	114193781	114193781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcatgacaactgctgctcGaaatggccatgtgttactaa	11	11	8	11	1	1	1	1	1	0	0	2	2	1	1	2	1	4	3	2	1	4	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:114193781G>A	ENST00000369615.1	+	14	2455	c.2393G>A	c.(2392-2394)cGa>cAa	p.R798Q	MAGI3_ENST00000307546.9_Missense_Mutation_p.R798Q|MAGI3_ENST00000369611.4_Missense_Mutation_p.R798Q|MAGI3_ENST00000369617.4_Missense_Mutation_p.R823Q	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	823	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGCTGCTCGAAATGGCCAT	0.433													24	83					0	0	0	0	A	114193781	G	A	114193781	3	1	233	1	0	0	0	0	1	0	0	0	9261	1058	37	1	2447	1	MAGI3	1	114193781	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	60571	114193781	135056840	11	42534											
GATAD2B	57459	broad.mit.edu	37	chr1	153785835	153785835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgctcacatagaatcttaCcattcttttcttgcttccag	9	16	4	12	0	4	1	1	0	3	1	5	1	5	1	2	0	3	2	2	0	3	7			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:153785835C>T	ENST00000368655.4	-	8	1553	c.1310G>A	c.(1309-1311)gGt>gAt	p.G437D		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	437	CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TAGAATCTTACCATTCTTTTC	0.468													41	103					0	0	0	0	T	153785835	C	T	153785835	3	4	233	1	0	0	0	0	1	0	0	0	6310	507	18	4	487	4	GATAD2B	1	153785835	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	39592054	153785835	95464786	12	42535											
DAP3	7818	broad.mit.edu	37	chr1	155686886	155686886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggttccagttgagagtccGagagctatttcccgcaccaa	10	9	10	12	2	0	2	0	1	0	2	3	4	3	2	4	1	1	4	4	1	2	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:155686886G>A	ENST00000368336.5	+	3	259	c.135G>A	c.(133-135)ccG>ccA	p.P45P	DAP3_ENST00000343043.3_Silent_p.P45P|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471214.1_3'UTR|DAP3_ENST00000421487.2_Silent_p.P45P|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000535183.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	45					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTGAGAGTCCGAGAGCTATTT	0.473													17	133					0	0	0	0	A	155686886	G	A	155686886	2	1	233	1	0	0	0	0	0	0	0	1	4267	1045	37	1		1	DAP3	1	155686886	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	1901051	155686886	93563735	13	42536											
PEA15	8682	broad.mit.edu	37	chr1	160183267	160183267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattggctcccccaccgaaGaaggcctgagcaagggggag	12	4	14	11	1	0	2	0	1	0	1	1	4	1	3	4	4	1	2	4	4	4	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:160183267G>A	ENST00000368076.1	+	6	795	c.447G>A	c.(445-447)aaG>aaA	p.K149K	PEA15_ENST00000368077.1_Silent_p.K106K|PEA15_ENST00000488858.1_3'UTR|PEA15_ENST00000360472.4_Silent_p.K128K			Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	128					anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding			large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCCACCGAAGAAGGCCTGAG	0.577													14	91					0	0	0	0	A	160183267	G	A	160183267	2	1	233	1	0	0	0	0	0	0	0	1	11782	933	33	2		2	PEA15	1	160183267	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	4496381	160183267	89067354	14	42537											
NCSTN	23385	broad.mit.edu	37	chr1	160327005	160327005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccgctggaaagatatcCgtgcccggatatttctcatc	10	10	10	11	3	1	2	1	0	1	2	4	4	2	4	3	2	2	1	3	2	3	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:160327005C>T	ENST00000368063.1	+	17	2189	c.1909C>T	c.(1909-1911)Cgt>Tgt	p.R637C	NCSTN_ENST00000368065.4_Missense_Mutation_p.R399C|NCSTN_ENST00000535857.1_Missense_Mutation_p.R519C|NCSTN_ENST00000294785.5_Missense_Mutation_p.R657C|NCSTN_ENST00000392212.4_Missense_Mutation_p.R637C			Q92542	NICA_HUMAN	nicastrin	657					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAAAGATATCCGTGCCCGGAT	0.512													19	43					0	0	0	0	T	160327005	C	T	160327005	3	4	233	1	0	0	0	0	1	0	0	0	10311	652	23	1	2031	1	NCSTN	1	160327005	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	143738	160327005	88923616	15	42538											
CFHR4	10877	broad.mit.edu	37	chr1	196871632	196871632	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actatactttccagcagctgCaggacaatcttattcctatt	11	14	5	11	0	1	0	0	0	1	0	3	1	3	1	2	1	4	3	2	1	5	7			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:196871632C>A	ENST00000367416.2	+	2	277	c.140C>A	c.(139-141)gCa>gAa	p.A47E	CFHR4_ENST00000251424.4_Missense_Mutation_p.A48E|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CCAGCAGCTGCAGGACAATCT	0.368													148	91					5.38354e-89	5.80033e-89	1	0	A	196871632	C	A	196871632	3	1	233	1	0	0	0	0	1	0	0	0	3316	710	25	4	149	4	CFHR4	1	196871632	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	36544627	196871632	52378989	16	42539											
CRB1	23418	broad.mit.edu	37	chr1	197404461	197404461	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaggaaactgtgaagaCatctatagctcttatcattg	13	12	9	7	0	3	2	1	1	2	1	3	4	3	4	0	2	2	1	0	2	5	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:197404461C>T	ENST00000367397.1	+	5	2469	c.1611C>T	c.(1609-1611)gaC>gaT	p.D537D	CRB1_ENST00000535699.1_Silent_p.D1132D|CRB1_ENST00000367400.3_Silent_p.D1156D|CRB1_ENST00000544212.1_Silent_p.D637D|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Silent_p.D1044D			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1156	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACTGTGAAGACATCTATAGCT	0.443													70	59					0	0	0	0	T	197404461	C	T	197404461	2	4	233	1	0	0	0	0	0	0	0	1	3878	477	17	4		4	CRB1	1	197404461	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	532829	197404461	51846160	17	42540											
DDX59	83479	broad.mit.edu	37	chr1	200619777	200619777	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgtcaagcacttgttgttGaaaacccatctttaacatgg	13	13	7	8	0	2	1	1	1	1	0	2	1	2	1	1	1	3	3	1	1	5	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:200619777G>C	ENST00000447706.2	-	5	1241	c.1090C>G	c.(1090-1092)Caa>Gaa	p.Q364E	DDX59_ENST00000331314.6_Missense_Mutation_p.Q364E|DDX59_ENST00000367348.3_Missense_Mutation_p.Q364E			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	364	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACTTGTTGTTGAAAACCCATC	0.358													16	77					0	0	0	0	C	200619777	G	C	200619777	3	2	233	1	0	0	0	0	1	0	0	0	4408	1299	45	2	785	2	DDX59	1	200619777	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	3215316	200619777	48630844	18	42541											
IGFN1	91156	broad.mit.edu	37	chr1	201193890	201193890	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtcactaaggatggcctCacccagcttctgatccctgt	8	11	8	14	0	3	1	2	1	1	0	4	2	4	2	3	2	1	1	3	2	1	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:201193890C>T	ENST00000335211.4	+	21	10504	c.10374C>T	c.(10372-10374)ctC>ctT	p.L3458L	IGFN1_ENST00000295591.8_Intron	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGATGGCCTCACCCAGCTTC	0.572													18	62					0	0	0	0	T	201193890	C	T	201193890	2	4	233	1	0	0	0	0	0	0	0	1	7643	813	29	2		2	IGFN1	1	201193890	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	574113	201193890	48056731	19	42542											
GOLT1A	127845	broad.mit.edu	37	chr1	204170910	204170910	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtcttcctcaggccaatGatgagggacaggcccgtcag	10	7	13	11	1	3	2	2	2	1	0	4	3	4	3	3	4	0	0	3	4	2	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:204170910G>A	ENST00000308302.3	-	3	332	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	49					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TCAGGCCAATGATGAGGGACA	0.592													35	115					0	0	0	0	A	204170910	G	A	204170910	2	1	233	1	0	0	0	0	0	0	0	1	6618	1280	45	2		2	GOLT1A	1	204170910	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	2977020	204170910	45079711	20	42543											
NFASC	23114	broad.mit.edu	37	chr1	204951100	204951100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctgaaaatgacttcGggaagggccctgagccagag	11	6	14	10	1	0	4	0	3	0	1	2	5	1	5	3	3	1	1	3	3	3	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:204951100G>A	ENST00000367172.4	+	21	2750	c.2422G>A	c.(2422-2424)Ggg>Agg	p.G808R	NFASC_ENST00000360049.4_Missense_Mutation_p.G804R|NFASC_ENST00000338586.6_Missense_Mutation_p.G808R|NFASC_ENST00000539706.1_Missense_Mutation_p.G804R|NFASC_ENST00000367170.4_Missense_Mutation_p.G808R|NFASC_ENST00000367169.4_Missense_Mutation_p.G808R|NFASC_ENST00000404076.1_Missense_Mutation_p.G787R|NFASC_ENST00000404907.1_Missense_Mutation_p.G804R|NFASC_ENST00000513543.1_Missense_Mutation_p.G804R|NFASC_ENST00000401399.1_Missense_Mutation_p.G808R|NFASC_ENST00000367171.4_Missense_Mutation_p.G793R|NFASC_ENST00000338515.6_Missense_Mutation_p.G808R|NFASC_ENST00000339876.6_Missense_Mutation_p.G808R			O94856	NFASC_HUMAN	neurofascin	808	Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAATGACTTCGGGAAGGGCCC	0.602													14	28					0	0	0	0	A	204951100	G	A	204951100	3	1	233	1	0	0	0	0	1	0	0	0	10429	1116	39	1	2580	1	NFASC	1	204951100	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	780190	204951100	44299521	21	42544											
IL19	29949	broad.mit.edu	37	chr1	207010082	207010082	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtagacaaccacggtctCaggagatgtctgatttccac	11	10	9	11	1	3	3	2	1	2	2	5	4	4	3	2	2	1	1	2	2	2	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:207010082C>T	ENST00000270218.6	+	3	1014	c.75C>T	c.(73-75)ctC>ctT	p.L25L	IL19_ENST00000340758.2_Silent_p.L63L	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	25					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			ACCACGGTCTCAGGAGATGTC	0.458													43	218					0	0	0	0	T	207010082	C	T	207010082	2	4	233	1	0	0	0	0	0	0	0	1	7702	813	29	2		2	IL19	1	207010082	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	2058982	207010082	42240539	22	42545											
INTS7	25896	broad.mit.edu	37	chr1	212180042	212180042	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtaatttcagatcttgaAtagcaagtctctttactgcc	12	14	6	9	0	3	2	1	1	2	1	4	2	3	2	1	0	3	2	1	0	6	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:212180042A>G	ENST00000366994.3	-	7	922	c.818T>C	c.(817-819)aTt>aCt	p.I273T	INTS7_ENST00000366993.3_Missense_Mutation_p.I273T|INTS7_ENST00000440600.2_Missense_Mutation_p.I224T|INTS7_ENST00000366992.3_Missense_Mutation_p.I273T|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	273					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CAGATCTTGAATAGCAAGTCT	0.318													37	111					0	0	0	0	G	212180042	A	G	212180042	3	3	233	1	0	0	0	0	1	0	0	0	7836	101	4	5	2126	5	INTS7	1	212180042	Missense_Mutation	SNP	A	TCGA-CV-5442-01A-01D-1512-08	5169960	212180042	37070579	23	42546											
GALNT2	2590	broad.mit.edu	37	chr1	230386252	230386252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatggataagttctattttGaagaactggggaagtacgac	13	12	12	4	1	1	3	0	2	1	1	1	6	1	5	0	3	2	2	0	3	6	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:230386252G>A	ENST00000366672.4	+	10	1027	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	GALNT2_ENST00000543760.1_Missense_Mutation_p.E281K|GALNT2_ENST00000541865.1_Intron	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	319	Catalytic subdomain B.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTTCTATTTTGAAGAACTGGG	0.493													19	53					0	0	0	0	A	230386252	G	A	230386252	3	1	233	1	0	0	0	0	1	0	0	0	6262	1291	45	2	993	2	GALNT2	1	230386252	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	18206210	230386252	18864369	24	42547											
NID1	4811	broad.mit.edu	37	chr1	236180568	236180568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggttgttctgaacattcatCaatatctgcagcaaaaattt	13	14	7	7	0	4	1	2	1	2	0	4	1	4	1	0	1	3	4	0	1	5	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:236180568C>G	ENST00000264187.6	-	10	2216	c.2134G>C	c.(2134-2136)Gat>Cat	p.D712H	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	712	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GAACATTCATCAATATCTGCA	0.393													47	103					0	0	0	0	G	236180568	C	G	236180568	3	3	233	1	0	0	0	0	1	0	0	0	10484	826	29	2	1653	2	NID1	1	236180568	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	5794316	236180568	13070053	25	42548											
OR11L1	391189	broad.mit.edu	37	chr1	248004499	248004499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaaaaggtctttctccGgccagaggtggaagggattc	9	10	15	7	1	2	1	0	0	2	1	4	4	2	4	2	6	0	0	2	6	3	2	rs147783465	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:248004499G>A	ENST00000355784.2	-	1	755	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTCTTTCTCCGGCCAGAGGTG	0.502													37	115					0	0	0	0	A	248004499	G	A	248004499	3	1	233	1	0	0	0	0	1	0	0	0	11001	1115	39	1	272	1	OR11L1	1	248004499	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	11823931	248004499	1246122	26	42549											
OR2T2	401992	broad.mit.edu	37	chr1	248616452	248616452	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattcttcctgctgggtctCatggcctatgaccgctatgt	6	14	10	11	1	2	1	1	1	2	0	4	2	3	1	3	2	1	2	3	2	3	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:248616452C>T	ENST00000342927.3	+	1	376	c.354C>T	c.(352-354)ctC>ctT	p.L118L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCTGGGTCTCATGGCCTATG	0.547													19	246					0	0	0	0	T	248616452	C	T	248616452	2	4	233	1	0	0	0	0	0	0	0	1	11091	813	29	2		2	OR2T2	1	248616452	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	611953	248616452	634169	27	42550											
MYT1L	23040	broad.mit.edu	37	chr2	1926709	1926709	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctgtcattcatgttttCtgagagcacaacaccgtgtc	9	15	7	10	1	4	1	2	1	2	1	5	2	4	1	1	0	2	2	1	0	1	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:1926709C>A	ENST00000399161.2	-	10	1579	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E278*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	278					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCATGTTTTCTGAGAGCACA	0.423													84	131					1.42748e-55	1.53305e-55	1	0	A	1926709	C	A	1926709	4	1	233	1	0	0	0	0	0	1	0	0	10177	922	32	2	2786	2	MYT1L	2	1926709	Nonsense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08		1926709	241272664	28	42551											
NBAS	51594	broad.mit.edu	37	chr2	15417101	15417101	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atactgcagcctttcgtgatCaaagccaccaatagtagggt	12	10	9	10	1	1	1	1	1	0	0	2	1	1	1	3	1	4	2	3	1	5	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:15417101C>G	ENST00000281513.5	-	43	5288	c.5263G>C	c.(5263-5265)Gat>Cat	p.D1755H	NBAS_ENST00000441750.1_Missense_Mutation_p.D1635H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1755										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTTCGTGATCAAAGCCACCA	0.443													23	40					0	0	0	0	G	15417101	C	G	15417101	3	3	233	1	0	0	0	0	1	0	0	0	10256	826	29	2	1892	2	NBAS	2	15417101	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	13490392	15417101	227782272	29	42552											
CLIP4	79745	broad.mit.edu	37	chr2	29356671	29356671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagagtgattttgaaaacatCgaaaccaaaaggcaagtatt	19	9	8	5	1	0	3	0	2	0	1	1	4	0	3	1	1	2	2	1	1	8	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:29356671C>T	ENST00000320081.5	+	5	773	c.518C>T	c.(517-519)tCg>tTg	p.S173L	CLIP4_ENST00000401617.2_Missense_Mutation_p.S66L|CLIP4_ENST00000401605.1_Missense_Mutation_p.S173L|CLIP4_ENST00000404424.1_Missense_Mutation_p.S173L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	173										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTGAAAACATCGAAACCAAAA	0.333													27	54					0	0	0	0	T	29356671	C	T	29356671	3	4	233	1	0	0	0	0	1	0	0	0	3565	893	31	1	532	1	CLIP4	2	29356671	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	13939570	29356671	213842702	30	42553											
VIT	5212	broad.mit.edu	37	chr2	36956606	36956606	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacattcaaacaaagaaacGgcaaagaagattaaaaggcc	21	5	8	7	1	1	3	1	0	0	3	1	3	1	3	1	2	3	2	1	2	8	3	rs147850488		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:36956606G>A	ENST00000379242.3	+	3	392	c.90G>A	c.(88-90)acG>acA	p.T30T	VIT_ENST00000401530.1_Silent_p.T30T|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000404084.1_Intron|VIT_ENST00000379241.3_Silent_p.T30T|VIT_ENST00000457137.2_Silent_p.T30T|VIT_ENST00000389975.3_Silent_p.T30T	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	30						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ACAAAGAAACGGCAAAGAAGA	0.308													32	57					0	0	0	0	A	36956606	G	A	36956606	2	1	233	1	0	0	0	0	0	0	0	1	17267	1103	39	1		1	VIT	2	36956606	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	7599935	36956606	206242767	31	42554											
MEIS1	4211	broad.mit.edu	37	chr2	66691284	66691284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacacggcatctactcgttCaggaggaaccccaggccctt	9	8	10	14	2	2	1	1	1	1	0	3	3	2	3	3	4	2	2	3	4	2	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:66691284C>T	ENST00000488550.1	+	7	973	c.674C>T	c.(673-675)tCa>tTa	p.S225L	MEIS1_ENST00000398506.2_Missense_Mutation_p.S223L|MEIS1_ENST00000560281.2_Missense_Mutation_p.S225L|MEIS1_ENST00000272369.9_Missense_Mutation_p.S225L|MEIS1_ENST00000407092.2_Missense_Mutation_p.S225L|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000495021.2_Missense_Mutation_p.S160L|MEIS1_ENST00000444274.2_Missense_Mutation_p.S193L			O00470	MEIS1_HUMAN	Meis homeobox 1	225	Ser/Thr-rich.						sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TCTACTCGTTCAGGAGGAACC	0.512													3	10					0	0	0	0	T	66691284	C	T	66691284	3	4	233	1	0	0	0	0	1	0	0	0	9536	838	29	2	700	2	MEIS1	2	66691284	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	29734678	66691284	176508089	32	42555											
TTC21B	79809	broad.mit.edu	37	chr2	166758288	166758288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaaacttaattgctttttCatagtctcgctgagcaacag	13	14	6	8	1	2	1	1	1	1	0	3	1	2	1	0	0	4	3	0	0	5	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:166758288C>T	ENST00000243344.7	-	20	2838	c.2701G>A	c.(2701-2703)Gaa>Aaa	p.E901K		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	901						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ATTGCTTTTTCATAGTCTCGC	0.368													23	37					0	0	0	0	T	166758288	C	T	166758288	3	4	233	1	0	0	0	0	1	0	0	0	16784	835	29	2	1289	2	TTC21B	2	166758288	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	100067004	166758288	76441085	33	42556											
SCN7A	6332	broad.mit.edu	37	chr2	167334107	167334107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctttaagtcttcttcttCatggtcttcattatgtgttt	5	22	7	7	0	6	0	2	0	4	0	6	0	6	0	0	2	0	2	0	2	2	8			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:167334107C>T	ENST00000409855.1	-	2	226	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	34					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCTTCTTCTTCATGGTCTTCA	0.388													10	10					0	0	0	0	T	167334107	C	T	167334107	3	4	233	1	0	0	0	0	1	0	0	0	14010	835	29	2	5044	2	SCN7A	2	167334107	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	575819	167334107	75865266	34	42557											
STAT1	6772	broad.mit.edu	37	chr2	191873691	191873691	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaaaaccaggtcatacctGaagattacgcttgcttttcc	13	11	6	11	1	1	2	1	1	0	1	2	2	2	2	3	1	4	2	3	1	5	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:191873691G>A	ENST00000361099.3	-	4	658	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	STAT1_ENST00000540176.1_Nonsense_Mutation_p.Q91*|STAT1_ENST00000409465.1_Nonsense_Mutation_p.Q91*|STAT1_ENST00000392323.2_Nonsense_Mutation_p.Q93*|STAT1_ENST00000392322.3_Nonsense_Mutation_p.Q91*	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	91					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GGTCATACCTGAAGATTACGC	0.368													26	3					0	0	0	0	A	191873691	G	A	191873691	4	1	233	1	0	0	0	0	0	1	0	0	15354	1299	45	2	2073	2	STAT1	2	191873691	Nonsense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	24539584	191873691	51325682	35	42558											
GIGYF2	26058	broad.mit.edu	37	chr2	233704679	233704679	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaacggcagcttcgagaaGaggtaaaattttaaagtaaa	18	8	11	4	2	0	3	0	0	0	3	1	5	0	3	0	2	2	4	0	2	8	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:233704679G>C	ENST00000373566.3	+	24	3150	c.2953G>C	c.(2953-2955)Gag>Cag	p.E985Q	GIGYF2_ENST00000452341.2_Missense_Mutation_p.E794Q|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E985Q|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E963Q|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E984Q|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E957Q|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E963Q			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	963	Gln-rich.				cell death		protein binding	p.E963Q(1)|p.E984Q(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCTTCGAGAAGAGGTAAAATT	0.448													9	23					0	0	0	0	C	233704679	G	C	233704679	3	2	233	1	0	0	0	0	1	0	0	0	6429	943	33	2	3039	2	GIGYF2	2	233704679	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	41830988	233704679	9494694	36	42559											
C2orf54	79919	broad.mit.edu	37	chr2	241834961	241834961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctaccagcaggtccttgaGgacacacaggaccttgctgg	9	8	12	12	0	0	1	0	1	0	0	1	3	1	3	3	4	4	3	3	4	1	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:241834961G>A	ENST00000388934.4	-	1	612	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F		NM_001085437.1	NP_001078906.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	152										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGGTCCTTGAGGACACACAGG	0.607													6	14					0	0	0	0	A	241834961	G	A	241834961	3	1	233	1	0	0	0	0	1	0	0	0	2195	1000	35	4	923	4	C2orf54	2	241834961	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	8130282	241834961	1364412	37	42560											
GRM7	2917	broad.mit.edu	37	chr3	7188201	7188201	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgaccggcgctatgacttCttctctcgcgtggtgccacc	5	11	11	14	4	2	2	0	2	2	0	4	3	2	2	3	2	1	1	3	2	1	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:7188201C>G	ENST00000486284.1	+	2	856	c.582C>G	c.(580-582)ttC>ttG	p.F194L	GRM7_ENST00000357716.4_Missense_Mutation_p.F194L|GRM7_ENST00000389336.4_Missense_Mutation_p.F194L|GRM7_ENST00000403881.1_Missense_Mutation_p.F194L|GRM7_ENST00000402647.2_Missense_Mutation_p.F194L	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	194					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			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)	GCTATGACTTCTTCTCTCGCG	0.537													44	118					0	0	0	0	G	7188201	C	G	7188201	3	3	233	1	0	0	0	0	1	0	0	0	6852	912	32	2	588	2	GRM7	3	7188201	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08		7188201	190834229	38	42561											
BRPF1	7862	broad.mit.edu	37	chr3	9783100	9783100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggaattgatccgcaagCgggaaaaactcaaaagggag	15	6	13	7	3	1	1	1	1	0	0	3	4	2	4	1	3	2	1	1	3	6	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:9783100C>T	ENST00000383829.2	+	5	2235	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	BRPF1_ENST00000457855.1_Missense_Mutation_p.R611W|BRPF1_ENST00000302054.3_Missense_Mutation_p.R611W|BRPF1_ENST00000433861.2_Missense_Mutation_p.R611W|BRPF1_ENST00000424362.1_Missense_Mutation_p.R611W	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	611	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GATCCGCAAGCGGGAAAAACT	0.522													22	103					0	0	0	0	T	9783100	C	T	9783100	3	4	233	1	0	0	0	0	1	0	0	0	1528	759	27	1	1845	1	BRPF1	3	9783100	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	2594899	9783100	188239330	39	42562											
DLEC1	9940	broad.mit.edu	37	chr3	38103718	38103718	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgagaagcgttccgtccaGaagaaagagctgaacaagaa	16	6	12	7	2	0	6	0	2	0	5	2	7	2	6	2	0	3	2	2	0	6	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:38103718G>C	ENST00000308059.6	+	4	753	c.732G>C	c.(730-732)caG>caC	p.Q244H	DLEC1_ENST00000452631.2_Missense_Mutation_p.Q244H|DLEC1_ENST00000346219.3_Missense_Mutation_p.Q244H			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	244					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTTCCGTCCAGAAGAAAGAGC	0.453													29	73					0	0	0	0	C	38103718	G	C	38103718	3	2	233	1	0	0	0	0	1	0	0	0	4589	933	33	2	746	2	DLEC1	3	38103718	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	28320618	38103718	159918712	40	42563											
SCN10A	6336	broad.mit.edu	37	chr3	38755460	38755460	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagacttacccgcatgccttCaaatcgagaaagagcccgca	13	6	8	14	3	1	3	1	0	0	3	2	4	1	3	3	0	3	2	3	0	3	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:38755460C>G	ENST00000449082.2	-	21	3792	c.3793G>C	c.(3793-3795)Gaa>Caa	p.E1265Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1265					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CGCATGCCTTCAAATCGAGAA	0.552													32	89					0	0	0	0	G	38755460	C	G	38755460	3	3	233	1	0	0	0	0	1	0	0	0	13999	835	29	2	2105	2	SCN10A	3	38755460	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	651742	38755460	159266970	41	42564											
SNRK	54861	broad.mit.edu	37	chr3	43388882	43388882	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaccttgaggatgacctCacggccactcctttgtccca	8	9	9	15	1	1	2	1	2	0	0	3	4	3	4	5	3	0	0	5	3	0	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:43388882C>G	ENST00000296088.7	+	7	1435	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000454177.1_Silent_p.L377L|SNRK_ENST00000437827.1_Silent_p.L171L|SNRK_ENST00000429705.2_Silent_p.L377L	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	377					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AGGATGACCTCACGGCCACTC	0.522													26	110					0	0	0	0	G	43388882	C	G	43388882	2	3	233	1	0	0	0	0	0	0	0	1	14939	813	29	2		2	SNRK	3	43388882	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	4633422	43388882	154633548	42	42565											
TGM4	7047	broad.mit.edu	37	chr3	44951844	44951844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgacctcaataagacctcGcagatccaaggtcaaggtac	13	8	9	11	1	2	3	2	1	0	2	4	3	3	3	3	2	1	2	3	2	5	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:44951844G>A	ENST00000296125.4	+	11	1658	c.1590G>A	c.(1588-1590)tcG>tcA	p.S530S		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	530					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATAAGACCTCGCAGATCCAAG	0.507													27	63					0	0	0	0	A	44951844	G	A	44951844	2	1	233	1	0	0	0	0	0	0	0	1	15926	1074	38	1		1	TGM4	3	44951844	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	1562962	44951844	153070586	43	42566											
TEX264	51368	broad.mit.edu	37	chr3	51708495	51708495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacatggggctctatggtGagactgggcggcttttcact	6	12	13	10	1	2	1	1	1	1	1	3	2	3	1	1	5	0	2	1	5	1	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:51708495G>A	ENST00000415259.1	+	2	1256	c.175G>A	c.(175-177)Gag>Aag	p.E59K	TEX264_ENST00000457573.1_Missense_Mutation_p.E59K|TEX264_ENST00000416589.1_Missense_Mutation_p.E59K|TEX264_ENST00000395057.1_Missense_Mutation_p.E59K|TEX264_ENST00000341333.5_Missense_Mutation_p.E59K			Q9Y6I9	TX264_HUMAN	testis expressed 264	59						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GCTCTATGGTGAGACTGGGCG	0.587													33	94					0	0	0	0	A	51708495	G	A	51708495	3	1	233	1	0	0	0	0	1	0	0	0	15877	1291	45	2	177	2	TEX264	3	51708495	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	6756651	51708495	146313935	44	42567											
TLR9	54106	broad.mit.edu	37	chr3	52256442	52256442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggacaagtccagccagatCaaaccgctcaggccttggaa	12	6	11	12	1	2	1	2	0	0	1	3	3	3	3	4	3	2	1	4	3	3	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:52256442C>G	ENST00000597542.1	-	9	2919	c.1962G>C	c.(1960-1962)ttG>ttC	p.L654F	TLR9_ENST00000360658.2_Missense_Mutation_p.L630F|TLR9_ENST00000494383.1_Missense_Mutation_p.D784H			Q9NR96	TLR9_HUMAN	toll-like receptor 9	630					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCAGCCAGATCAAACCGCTCA	0.612													17	73					0	0	0	0	G	52256442	C	G	52256442	3	3	233	1	0	0	0	0	1	0	0	0	16052	825	29	2	1212	2	TLR9	3	52256442	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	547947	52256442	145765988	45	42568											
TLR9	54106	broad.mit.edu	37	chr3	52257323	52257323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggacaggttaagcttgcGcagctgtgttaggccctgga	9	9	15	8	1	0	0	0	0	0	0	0	3	0	2	1	4	3	5	1	4	3	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:52257323G>A	ENST00000597542.1	-	9	2038	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	TLR9_ENST00000360658.2_Missense_Mutation_p.R337C|TLR9_ENST00000494383.1_Missense_Mutation_p.A490V			Q9NR96	TLR9_HUMAN	toll-like receptor 9	337					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TTAAGCTTGCGCAGCTGTGTT	0.557													43	97					0	0	0	0	A	52257323	G	A	52257323	3	1	233	1	0	0	0	0	1	0	0	0	16052	1087	38	1	2093	1	TLR9	3	52257323	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	881	52257323	145765107	46	42569											
DNAH1	25981	broad.mit.edu	37	chr3	52425293	52425293	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaagccatgtctcctggaGaacgtgggcgaggagctaga	10	6	16	9	2	1	2	0	0	1	2	2	5	1	3	2	4	3	2	2	4	3	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:52425293G>C	ENST00000420323.2	+	62	10101	c.9840G>C	c.(9838-9840)gaG>gaC	p.E3280D		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3345	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCTCCTGGAGAACGTGGGCG	0.607													7	17					0	0	0	0	C	52425293	G	C	52425293	3	2	233	1	0	0	0	0	1	0	0	0	4634	933	33	2	10082	2	DNAH1	3	52425293	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	167970	52425293	145597137	47	42570											
ITIH1	3697	broad.mit.edu	37	chr3	52819193	52819193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagattgtggtggccgggcGcattgctgacaacaaacaga	12	7	14	8	2	0	3	0	1	0	2	0	4	0	3	1	3	3	2	1	3	2	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:52819193G>A	ENST00000273283.2	+	12	1565	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H	ITIH1_ENST00000542827.1_Missense_Mutation_p.R514H|ITIH1_ENST00000540715.1_Missense_Mutation_p.R372H|ITIH1_ENST00000537050.1_Missense_Mutation_p.R226H	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	514	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.R514H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTGGCCGGGCGCATTGCTGAC	0.572													32	135					0	0	0	0	A	52819193	G	A	52819193	3	1	233	1	0	0	0	0	1	0	0	0	7956	1087	38	1	1587	1	ITIH1	3	52819193	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	393900	52819193	145203237	48	42571											
TMF1	7110	broad.mit.edu	37	chr3	69088019	69088019	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcactatccagggcagcctGaatacttcggttcttttctt	7	15	8	11	1	2	1	0	1	2	0	4	1	3	1	2	2	3	3	2	2	3	7			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:69088019G>A	ENST00000543976.1	-	7	2224	c.1978C>T	c.(1978-1980)Cag>Tag	p.Q660*	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000398559.2_Nonsense_Mutation_p.Q657*|CTD-2013N24.2_ENST00000482368.2_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	657					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGGGCAGCCTGAATACTTCGG	0.353													40	119					0	0	0	0	A	69088019	G	A	69088019	4	1	233	1	0	0	0	0	0	1	0	0	16322	1299	45	2	1356	2	TMF1	3	69088019	Nonsense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	16268826	69088019	128934411	49	42572											
CNTN3	5067	broad.mit.edu	37	chr3	74414719	74414719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtccatgttaccttacctCtagcaccagggctgctccat	8	11	8	14	0	1	0	0	0	1	0	3	0	3	0	5	2	4	4	5	2	3	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:74414719C>T	ENST00000263665.6	-	8	1108	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	361	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TACCTTACCTCTAGCACCAGG	0.498													119	329					0	0	0	0	T	74414719	C	T	74414719	3	4	233	1	0	0	0	0	1	0	0	0	3672	922	32	2	2065	2	CNTN3	3	74414719	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	5326700	74414719	123607711	50	42573											
CADM2	253559	broad.mit.edu	37	chr3	85935436	85935436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatctggtagtaaacctgCagctgatataagatggttca	14	11	9	7	0	2	2	1	1	1	1	2	2	2	2	1	2	4	5	1	2	6	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:85935436C>A	ENST00000383699.3	+	5	1115	c.488C>A	c.(487-489)gCa>gAa	p.A163E	CADM2_ENST00000407528.2_Missense_Mutation_p.A154E|CADM2_ENST00000405615.2_Missense_Mutation_p.A156E	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	154	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGTAAACCTGCAGCTGATATA	0.363													21	55					2.39187e-15	2.48874e-15	1	0	A	85935436	C	A	85935436	3	1	233	1	0	0	0	0	1	0	0	0	2592	710	25	4	546	4	CADM2	3	85935436	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	11520717	85935436	112086994	51	42574											
OR5H1	26341	broad.mit.edu	37	chr3	97851704	97851706	+	In_Frame_Del	DEL	CTT	CTT	-																															tcatctggaaagaccctcacCttcatatcccaatgtactta																										TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:97851704_97851706delCTT	ENST00000354565.2	+	1	163_165	c.163_165delCTT	c.(163-165)del	p.L55del	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGACCCTCACCTTCATATCCCAA	0.424													7	206	---	---	---	---					-	97851706	CTT	-	97851704	7	5	233	1	0	1	0	1	0	0	0	0	11230	681	24	0	165	0	OR5H1	3	97851704	In_Frame_Del	DEL	CTT	TCGA-CV-5442-01A-01D-1512-08	11916268	97851704	100170726	52	42575											
LSAMP	4045	broad.mit.edu	37	chr3	115805246	115805246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaagtgtaggaaccctcatCatagacatccaccttctgga	12	9	8	12	0	3	1	2	0	1	1	4	3	4	3	3	2	1	2	3	2	4	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:115805246C>T	ENST00000490035.1	-	2	812	c.313G>A	c.(313-315)Gat>Aat	p.D105N	LSAMP_ENST00000539563.1_Missense_Mutation_p.D102N	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	105	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GAACCCTCATCATAGACATCC	0.498													35	67					0	0	0	0	T	115805246	C	T	115805246	3	4	233	1	0	0	0	0	1	0	0	0	9112	826	29	2	727	2	LSAMP	3	115805246	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	17953542	115805246	82217184	53	42576											
ZIC1	7545	broad.mit.edu	37	chr3	147127991	147127991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcgggcgacgtggccgaacGagacgtgggcctgggcatca	7	4	18	12	7	1	1	1	0	0	1	1	4	1	1	2	4	1	1	2	4	1	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:147127991G>A	ENST00000282928.4	+	1	821	c.92G>A	c.(91-93)cGa>cAa	p.R31Q		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	31					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GTGGCCGAACGAGACGTGGGC	0.706													11	38					0	0	0	0	A	147127991	G	A	147127991	3	1	233	1	0	0	0	0	1	0	0	0	17773	1058	37	1	94	1	ZIC1	3	147127991	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	31322745	147127991	50894439	54	42577											
CP	1356	broad.mit.edu	37	chr3	148897378	148897378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agttgaataataagcccatgGaatacaagcagaatcctctg	16	9	8	8	0	1	2	0	1	1	1	2	3	2	3	2	1	3	2	2	1	7	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:148897378G>A	ENST00000264613.6	-	15	2888	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	876	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TAAGCCCATGGAATACAAGCA	0.373													57	34					0	0	0	0	A	148897378	G	A	148897378	3	1	233	1	0	0	0	0	1	0	0	0	3817	1174	41	2	591	2	CP	3	148897378	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	1769387	148897378	49125052	55	42578											
RNF13	11342	broad.mit.edu	37	chr3	149678787	149678787	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaggaagacgacaatgaaGatactgacagtagtgatgca	17	7	12	5	1	0	6	0	4	0	2	0	8	0	7	0	1	2	2	0	1	5	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:149678787G>C	ENST00000344229.3	+	11	1744	c.1042G>C	c.(1042-1044)Gat>Cat	p.D348H	RNF13_ENST00000392894.3_Missense_Mutation_p.D348H|RNF13_ENST00000361785.6_Missense_Mutation_p.D229H	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	348					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGACAATGAAGATACTGACAG	0.423													21	104					0	0	0	0	C	149678787	G	C	149678787	3	2	233	1	0	0	0	0	1	0	0	0	13522	942	33	2	1076	2	RNF13	3	149678787	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	781409	149678787	48343643	56	42579											
MYNN	55892	broad.mit.edu	37	chr3	169504251	169504251	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaggatcatactttgagtGaacaggattccatacaaaaa	17	9	8	7	0	1	3	1	2	0	1	2	5	2	5	1	2	3	0	1	2	5	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:169504251G>C	ENST00000349841.5	+	8	2281	c.1618G>C	c.(1618-1620)Gaa>Caa	p.E540Q	MYNN_ENST00000356716.4_Missense_Mutation_p.E540Q|MYNN_ENST00000544106.1_Missense_Mutation_p.E511Q	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	540						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TACTTTGAGTGAACAGGATTC	0.373													59	148					0	0	0	0	C	169504251	G	C	169504251	3	2	233	1	0	0	0	0	1	0	0	0	10131	1291	45	2	1644	2	MYNN	3	169504251	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	19825464	169504251	28518179	57	42580											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			23	85					0	0	0	0	A	178936091	G	A	178936091	3	1	233	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	9431840	178936091	19086339	58	42581											
PSMD2	5708	broad.mit.edu	37	chr3	184020171	184020171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtagttgtgtgaattacGtgcctgagcctgagaactca	9	14	11	7	1	1	3	1	3	0	1	1	4	1	3	2	0	4	2	2	0	4	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:184020171G>A	ENST00000310118.4	+	6	1276	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	PSMD2_ENST00000435761.1_Missense_Mutation_p.V81M|PSMD2_ENST00000439383.1_Missense_Mutation_p.V110M|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	240					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGTGAATTACGTGCCTGAGCC	0.428													25	65					0	0	0	0	A	184020171	G	A	184020171	3	1	233	1	0	0	0	0	1	0	0	0	12777	1145	40	1	740	1	PSMD2	3	184020171	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	5084080	184020171	14002259	59	42582											
EIF4G1	1981	broad.mit.edu	37	chr3	184043060	184043060	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttctccttcctagcccCgaatggatcagtatttcaac	8	13	6	14	1	3	0	2	0	1	0	5	2	4	1	5	1	2	1	5	1	4	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:184043060C>T	ENST00000342981.4	+	18	3277	c.2863C>T	c.(2863-2865)Cga>Tga	p.R955*	EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.R954*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.R868*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.R790*|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.R954*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.R791*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.R759*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.R961*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.R915*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.R961*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.R961*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.R914*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.R867*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.R758*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	954	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCCTAGCCCCGAATGGATCA	0.522													31	109					0	0	0	0	T	184043060	C	T	184043060	4	4	233	1	0	0	0	0	0	1	0	0	5074	644	23	1	2926	1	EIF4G1	3	184043060	Nonsense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	22889	184043060	13979370	60	42583											
FGFR3	2261	broad.mit.edu	37	chr4	1808852	1808852	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccgccagcaggagtacctgGacctgtcggcgcctttcgag	6	7	13	15	4	0	0	0	0	0	0	2	3	0	2	5	3	2	2	5	3	1	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:1808852G>C	ENST00000340107.4	+	18	2546	c.2290G>C	c.(2290-2292)Gac>Cac	p.D764H	FGFR3_ENST00000352904.1_Missense_Mutation_p.D650H|FGFR3_ENST00000260795.2_Missense_Mutation_p.D762H|FGFR3_ENST00000440486.2_Missense_Mutation_p.D762H|FGFR3_ENST00000412135.2_Missense_Mutation_p.D650H|FGFR3_ENST00000481110.2_Missense_Mutation_p.G739A	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	762					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGAGTACCTGGACCTGTCGGC	0.701		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				3	8					0	0	0	0	C	1808852	G	C	1808852	3	2	233	1	0	0	0	0	1	0	0	0	5912	1174	41	2	2505	2	FGFR3	4	1808852	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08		1808852	189345424	61	42584											
FGFR3	2261	broad.mit.edu	37	chr4	1808924	1808924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctccagctcctcaggggacGactccgtgtttgcccacgac	6	8	11	16	3	1	0	1	0	0	0	4	3	4	1	4	2	2	3	4	2	0	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:1808924G>A	ENST00000340107.4	+	18	2618	c.2362G>A	c.(2362-2364)Gac>Aac	p.D788N	FGFR3_ENST00000352904.1_Missense_Mutation_p.D674N|FGFR3_ENST00000260795.2_Missense_Mutation_p.D786N|FGFR3_ENST00000440486.2_Missense_Mutation_p.D786N|FGFR3_ENST00000412135.2_Missense_Mutation_p.D674N|FGFR3_ENST00000481110.2_Missense_Mutation_p.R763Q	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	786					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CTCAGGGGACGACTCCGTGTT	0.701		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				10	7					0	0	0	0	A	1808924	G	A	1808924	3	1	233	1	0	0	0	0	1	0	0	0	5912	1058	37	1	2577	1	FGFR3	4	1808924	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	72	1808924	189345352	62	42585											
STIM2	57620	broad.mit.edu	37	chr4	27024254	27024254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attatctccgcgaaagatatCaagagatgaggtgtccctag	13	10	10	8	2	2	3	1	1	1	2	4	5	3	3	2	1	0	0	2	1	5	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:27024254C>T	ENST00000382009.3	+	13	2429	c.2162C>T	c.(2161-2163)tCa>tTa	p.S721L	STIM2_ENST00000467011.1_3'UTR|STIM2_ENST00000237364.5_Missense_Mutation_p.S713L|STIM2_ENST00000412829.2_3'UTR|STIM2_ENST00000467087.1_Missense_Mutation_p.S626L|STIM2_ENST00000465503.1_Missense_Mutation_p.S634L	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	626					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CGAAAGATATCAAGAGATGAG	0.468													49	76					0	0	0	0	T	27024254	C	T	27024254	3	4	233	1	0	0	0	0	1	0	0	0	15374	838	29	2	1992	2	STIM2	4	27024254	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	25215330	27024254	164130022	63	42586											
TBC1D1	23216	broad.mit.edu	37	chr4	38117541	38117541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtttgacatggggctgcGgaaacagtatcggccagaca	11	8	14	8	2	0	2	0	1	0	1	1	4	0	3	1	4	2	3	1	4	2	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:38117541G>A	ENST00000261439.4	+	16	3123	c.2768G>A	c.(2767-2769)cGg>cAg	p.R923Q	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Missense_Mutation_p.R1017Q	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	923	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						ATGGGGCTGCGGAAACAGTAT	0.403													43	45					0	0	0	0	A	38117541	G	A	38117541	3	1	233	1	0	0	0	0	1	0	0	0	15688	1116	39	1	2826	1	TBC1D1	4	38117541	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	11093287	38117541	153036735	64	42587											
HSD17B13	345275	broad.mit.edu	37	chr4	88231424	88231424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagaaagatattgatataCgatggaacaaaaatcatttt	18	12	6	5	1	2	3	2	1	0	2	2	5	2	4	0	1	2	0	0	1	7	6	rs113762141	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:88231424C>T	ENST00000328546.4	-	6	847	c.783G>A	c.(781-783)tcG>tcA	p.S261S	HSD17B13_ENST00000302219.6_Silent_p.S225S	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	261						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TATTGATATACGATGGAACAA	0.308													31	79					0	0	0	0	T	88231424	C	T	88231424	2	4	233	1	0	0	0	0	0	0	0	1	7432	523	19	1		1	HSD17B13	4	88231424	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	50113883	88231424	102922852	65	42588											
LARP1B	55132	broad.mit.edu	37	chr4	129043065	129043065	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaacttgattttttgtttGatgaagagattgaacaaata	16	15	8	2	0	0	6	0	4	0	2	0	7	0	6	0	0	2	1	0	0	6	7			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:129043065G>A	ENST00000354456.3	+	0	1377				LARP1B_ENST00000441387.1_Missense_Mutation_p.D416N|LARP1B_ENST00000512292.1_Missense_Mutation_p.D416N|LARP1B_ENST00000427266.1_Missense_Mutation_p.D416N|LARP1B_ENST00000264584.5_Missense_Mutation_p.D369N|LARP1B_ENST00000326639.6_Missense_Mutation_p.D416N			Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B								RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTTTTTGTTTGATGAAGAGAT	0.333													24	34					0	0	0	0	A	129043065	G	A	129043065	1	1	233	1	0	0	0	0	0	0	0	0	8682	1290	45	2		2	LARP1B	4	129043065	Translation_Start_Site	SNP	G	TCGA-CV-5442-01A-01D-1512-08	40811641	129043065	62111211	66	42589											
FGG	2266	broad.mit.edu	37	chr4	155531239	155531239	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcccagtgatatcatggAtttgcaccgtgtctttgcaa	8	15	8	10	1	2	1	1	1	1	0	3	2	3	2	2	1	2	2	2	1	2	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:155531239A>T	ENST00000404648.3	-	5	751	c.512T>A	c.(511-513)aTc>aAc	p.I171N	FGG_ENST00000405164.1_Missense_Mutation_p.I171N|FGG_ENST00000336098.3_Missense_Mutation_p.I171N|FGG_ENST00000407946.1_Missense_Mutation_p.I171N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	171	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GATATCATGGATTTGCACCGT	0.368													63	96					0	0	0	0	T	155531239	A	T	155531239	3	4	233	1	0	0	0	0	1	0	0	0	5915	333	12	5	888	5	FGG	4	155531239	Missense_Mutation	SNP	A	TCGA-CV-5442-01A-01D-1512-08	26488174	155531239	35623037	67	42590											
NPY5R	4889	broad.mit.edu	37	chr4	164271506	164271506	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccactcggaattctgatttCccagtctgggatgactataa	10	12	9	10	1	2	2	0	2	2	0	4	4	3	4	2	2	0	0	2	2	3	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:164271506C>T	ENST00000515560.1	+	4	1603	c.81C>T	c.(79-81)ttC>ttT	p.F27F	NPY5R_ENST00000338566.3_Silent_p.F27F|NPY5R_ENST00000506953.1_Silent_p.F27F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	27					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.F27F(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTCTGATTTCCCAGTCTGGG	0.393													41	69					0	0	0	0	T	164271506	C	T	164271506	2	4	233	1	0	0	0	0	0	0	0	1	10681	854	30	2		2	NPY5R	4	164271506	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	8740267	164271506	26882770	68	42591											
SLC9A3	6550	broad.mit.edu	37	chr5	484663	484663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccgacagcgacagcatctCggacgtcaggtaggacaggt	10	5	15	11	4	2	0	1	0	1	0	3	4	2	2	1	5	2	2	1	5	1	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:484663C>T	ENST00000264938.3	-	5	913	c.904G>A	c.(904-906)Gag>Aag	p.E302K	SLC9A3_ENST00000514375.1_Missense_Mutation_p.E302K	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	302						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GACAGCATCTCGGACGTCAGG	0.632													18	117					0	0	0	0	T	484663	C	T	484663	3	4	233	1	0	0	0	0	1	0	0	0	14801	893	31	1	1652	1	SLC9A3	5	484663	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08		484663	180430597	69	42592											
TRIO	7204	broad.mit.edu	37	chr5	14492748	14492748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacggcagtgaaggaggatGagatcaacgtctaccaagga	15	5	13	8	2	2	2	1	2	1	1	2	6	2	5	1	4	2	1	1	4	4	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:14492748G>A	ENST00000344204.4	+	49	7729	c.7705G>A	c.(7705-7707)Gag>Aag	p.E2569K	TRIO_ENST00000537187.1_Missense_Mutation_p.E2393K|TRIO_ENST00000344135.5_Missense_Mutation_p.E68K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2569	SH3 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAAGGAGGATGAGATCAACGT	0.532													16	145					0	0	0	0	A	14492748	G	A	14492748	3	1	233	1	0	0	0	0	1	0	0	0	16647	1291	45	2	7899	2	TRIO	5	14492748	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	14008085	14492748	166422512	70	42593											
PDZD2	23037	broad.mit.edu	37	chr5	32108096	32108096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtgcggctgaacaagctgGaataatagaagctggagatg	13	8	15	5	1	0	3	0	1	0	2	0	5	0	4	0	4	4	3	0	4	6	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:32108096G>A	ENST00000438447.1	+	25	8763	c.8375G>A	c.(8374-8376)gGa>gAa	p.G2792E	CTD-2152M20.2_ENST00000503441.1_RNA|PDZD2_ENST00000282493.3_Missense_Mutation_p.G2792E|PDZD2_ENST00000513490.1_3'UTR			O15018	PDZD2_HUMAN	PDZ domain containing 2	2792	PDZ 6.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAACAAGCTGGAATAATAGAA	0.373													33	231					0	0	0	0	A	32108096	G	A	32108096	3	1	233	1	0	0	0	0	1	0	0	0	11772	1174	41	2	8469	2	PDZD2	5	32108096	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	17615348	32108096	148807164	71	42594											
SKP2	6502	broad.mit.edu	37	chr5	36181999	36181999	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtacccttcaactgttaaagGaagcccttcctcatctacag	11	11	6	13	0	3	0	2	0	1	0	4	1	4	1	3	1	4	2	3	1	6	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:36181999G>T	ENST00000274255.6	+	10	1337	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	SKP2_ENST00000274254.5_Intron|SKP2_ENST00000546211.1_Nonsense_Mutation_p.E167*|SKP2_ENST00000508514.1_Nonsense_Mutation_p.E174*	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	381					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTGTTAAAGGAAGCCCTTCC	0.423													86	360					9.61239e-26	1.0096e-25	1	0	T	36181999	G	T	36181999	4	4	233	1	0	0	0	0	0	1	0	0	14450	1175	41	2	1179	2	SKP2	5	36181999	Nonsense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	4073903	36181999	144733261	72	42595											
C6	729	broad.mit.edu	37	chr5	41160316	41160316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgacacacacacagacattCagtccctgagagggtgggtc	11	7	11	12	0	1	3	1	2	0	2	3	4	2	3	1	2	0	0	1	2	0	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:41160316C>T	ENST00000263413.3	-	11	1876	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	C6_ENST00000337836.5_Missense_Mutation_p.E538K|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	538	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACAGACATTCAGTCCCTGAG	0.473													45	382					0	0	0	0	T	41160316	C	T	41160316	3	4	233	1	0	0	0	0	1	0	0	0	2336	835	29	2	1224	2	C6	5	41160316	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	4978317	41160316	139754944	73	42596											
SNX18	112574	broad.mit.edu	37	chr5	53815217	53815217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggcctcagccaggcctttGagctggaccagcaggccttc	6	7	13	15	1	1	1	1	1	0	0	2	2	1	2	5	4	3	2	5	4	0	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:53815217G>C	ENST00000343017.6	+	1	1629	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	SNX18_ENST00000326277.3_Missense_Mutation_p.E479Q|SNX18_ENST00000381410.4_Missense_Mutation_p.E479Q	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	479	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CCAGGCCTTTGAGCTGGACCA	0.627													20	33					0	0	0	0	C	53815217	G	C	53815217	3	2	233	1	0	0	0	0	1	0	0	0	14977	1291	45	2	1437	2	SNX18	5	53815217	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	12654901	53815217	127100043	74	42597											
DHX29	54505	broad.mit.edu	37	chr5	54585191	54585191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaggaggctttttcctttCattttgttgatgtgaaatct	8	19	8	6	0	2	2	1	2	1	0	3	3	3	3	1	2	1	2	1	2	2	7			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:54585191C>T	ENST00000251636.5	-	8	1121	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	325							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTTTTCCTTTCATTTTGTTGA	0.333													23	30					0	0	0	0	T	54585191	C	T	54585191	3	4	233	1	0	0	0	0	1	0	0	0	4540	835	29	2	3216	2	DHX29	5	54585191	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	769974	54585191	126330069	75	42598											
GFM2	84340	broad.mit.edu	37	chr5	74018254	74018254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaactttgttgtcctggcGagtctgaatttcctgaatgt	9	15	9	8	1	1	2	0	2	1	0	3	3	3	2	2	1	2	1	2	1	4	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:74018254G>A	ENST00000296805.3	-	20	2618	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000345239.2_Missense_Mutation_p.R674C|GFM2_ENST00000509430.1_Missense_Mutation_p.R721C	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	721					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTGTCCTGGCGAGTCTGAATT	0.403													49	106					0	0	0	0	A	74018254	G	A	74018254	3	1	233	1	0	0	0	0	1	0	0	0	6393	1058	37	1	186	1	GFM2	5	74018254	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	19433063	74018254	106897006	76	42599											
COL4A3BP	10087	broad.mit.edu	37	chr5	74807074	74807074	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaccggcccccgctccctCagctgcgccggaggaggcgc	5	3	15	18	5	1	1	1	0	0	1	2	4	2	3	5	4	2	2	5	4	0	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:74807074C>G	ENST00000380494.5	-	2	636	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	COL4A3BP_ENST00000405807.4_5'UTR|COL4A3BP_ENST00000261415.7_5'UTR	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	0	PH.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	p.E115K(1)		breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CCCGCTCCCTCAGCTGCGCCG	0.687													6	6					0	0	0	0	G	74807074	C	G	74807074	3	3	233	1	0	0	0	0	1	0	0	0	3722	835	29	2	1983	2	COL4A3BP	5	74807074	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	788820	74807074	106108186	77	42600											
ARSB	411	broad.mit.edu	37	chr5	78076243	78076243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccaagggccccacacccCagtggccttgggatcacagc	9	5	10	17	0	1	0	1	0	0	0	2	1	2	1	6	3	1	0	6	3	1	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:78076243C>T	ENST00000264914.4	-	8	2115	c.1579G>A	c.(1579-1581)Ggg>Agg	p.G527R		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	527					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CCCCACACCCCAGTGGCCTTG	0.532													41	62					0	0	0	0	T	78076243	C	T	78076243	3	4	233	1	0	0	0	0	1	0	0	0	992	594	21	4	26	4	ARSB	5	78076243	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	3269169	78076243	102839017	78	42601											
GPR98	84059	broad.mit.edu	37	chr5	89981662	89981662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactaattatcattgccaatGatgatgcatttggaactctt	13	15	6	7	0	2	2	1	2	1	0	2	3	2	3	1	1	4	1	1	1	5	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:89981662G>A	ENST00000405460.2	+	29	6436	c.6340G>A	c.(6340-6342)Gat>Aat	p.D2114N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2114					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTGCCAATGATGATGCATT	0.428													26	32					0	0	0	0	A	89981662	G	A	89981662	3	1	233	1	0	0	0	0	1	0	0	0	6771	1290	45	2	6454	2	GPR98	5	89981662	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	11905419	89981662	90933598	79	42602											
PCDHA6	56142	broad.mit.edu	37	chr5	140209500	140209500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctacaacgcgtggctttcGtatgagctgcagcccccggc	6	8	13	14	4	0	1	0	1	0	0	1	1	0	1	2	3	5	5	2	3	3	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:140209500G>A	ENST00000529310.1	+	1	1938	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.S608S(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAGCTGC	0.657													43	52					0	0	0	0	A	140209500	G	A	140209500	2	1	233	1	0	0	0	0	0	0	0	1	11599	1132	40	1		1	PCDHA6	5	140209500	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	50227838	140209500	40705760	80	42603											
PCDHA11	56138	broad.mit.edu	37	chr5	140250862	140250862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctgtggtggtcggcaaCgcccactgagggcgcgtgcg	4	6	19	12	6	0	1	0	1	0	0	1	1	0	1	1	5	2	2	1	5	1	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:140250862C>T	ENST00000398640.2	+	1	2174	c.2174C>T	c.(2173-2175)aCg>aTg	p.T725M	PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCGGCAACGCCCACTGAG	0.667													24	40					0	0	0	0	T	140250862	C	T	140250862	3	4	233	1	0	0	0	0	1	0	0	0	11592	536	19	1	2176	1	PCDHA11	5	140250862	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	41362	140250862	40664398	81	42604											
PCDHB15	56121	broad.mit.edu	37	chr5	140626472	140626472	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcataaccgtgctggtgtcGgacgtcaatgacaacgcccc	10	7	11	13	4	1	1	1	1	0	0	2	2	1	2	3	2	4	2	3	2	3	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:140626472G>A	ENST00000231173.3	+	1	1326	c.1326G>A	c.(1324-1326)tcG>tcA	p.S442S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		442	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTGTCGGACGTCAATG	0.587													45	77					0	0	0	0	A	140626472	G	A	140626472	2	1	233	1	0	0	0	0	0	0	0	1	11611	1103	39	1		1	PCDHB15	5	140626472	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	375610	140626472	40288788	82	42605											
TCERG1	10915	broad.mit.edu	37	chr5	145851051	145851051	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtaatatcatttcttgtagGagcccaaagaagaggagatg	15	10	11	5	0	2	3	1	0	1	3	2	5	2	4	1	2	1	2	1	2	5	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:145851051G>A	ENST00000296702.5	+	9	1551	c.1512_splice	c.e9-1	p.E505_splice	TCERG1_ENST00000394421.2_Splice_Site_p.E484_splice	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	505	Glu-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCTTGTAGGAGCCCAAAGA	0.403													42	69					0	0	0	0	A	145851051	G	A	145851051	5	1	233	1	0	0	0	0	0	0	1	0	15779	1188	41	2	1547	2	TCERG1	5	145851051	Splice_Site	SNP	G	TCGA-CV-5442-01A-01D-1512-08	5224579	145851051	35064209	83	42606											
DCTN4	51164	broad.mit.edu	37	chr5	150097909	150097909	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcacatgggtgaggttctCaactggatttgtaagagtca	11	12	12	6	0	3	2	3	1	1	1	4	3	3	3	0	3	1	2	0	3	2	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:150097909C>G	ENST00000447998.2	-	11	1115	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	DCTN4_ENST00000424236.1_Missense_Mutation_p.E277Q|DCTN4_ENST00000446090.2_Missense_Mutation_p.E341Q	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	334						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGAGGTTCTCAACTGGATTT	0.483													27	45					0	0	0	0	G	150097909	C	G	150097909	3	3	233	1	0	0	0	0	1	0	0	0	4341	835	29	2	394	2	DCTN4	5	150097909	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	4246858	150097909	30817351	84	42607											
C5orf54	63920	broad.mit.edu	37	chr5	159820802	159820802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatagccacacggatatcatCactcagattaaagcagcttc	15	9	6	11	1	3	1	3	0	0	1	4	2	3	2	1	1	3	2	1	1	5	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:159820802C>T	ENST00000408953.3	-	2	2203	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N	C5orf54_ENST00000523213.1_Missense_Mutation_p.D566N	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	566										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						cggatatcatcactcagatta	0.373													10	6					0	0	0	0	T	159820802	C	T	159820802	3	4	233	1	0	0	0	0	1	0	0	0	2331	826	29	2	92	2	C5orf54	5	159820802	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	9722893	159820802	21094458	85	42608											
EIF4E1B	253314	broad.mit.edu	37	chr5	176072440	176072440	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggtatgtggggccgtcgtCaacatccgcaccaaggggga	9	6	16	10	3	1	0	1	0	0	0	3	2	2	1	3	5	1	2	3	5	3	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:176072440C>G	ENST00000318682.6	+	8	1121	c.537C>G	c.(535-537)gtC>gtG	p.V179V	EIF4E1B_ENST00000512734.1_3'UTR|EIF4E1B_ENST00000504597.1_Silent_p.V179V	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	179					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCCGTCGTCAACATCCGCA	0.622													19	38					0	0	0	0	G	176072440	C	G	176072440	2	3	233	1	0	0	0	0	0	0	0	1	5067	813	29	2		2	EIF4E1B	5	176072440	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	16251638	176072440	4842820	86	42609											
ZNF354C	30832	broad.mit.edu	37	chr5	178505983	178505983	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaacagagtgttcctataGaaaggatacccaatatgtat	16	10	7	8	0	0	2	0	0	0	2	1	3	1	3	2	1	2	2	2	1	8	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:178505983G>C	ENST00000315475.6	+	5	856	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TGTTCCTATAGAAAGGATACC	0.353													32	69					0	0	0	0	C	178505983	G	C	178505983	3	2	233	1	0	0	0	0	1	0	0	0	17961	943	33	2	564	2	ZNF354C	5	178505983	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	2433543	178505983	2409277	87	42610											
FARS2	10667	broad.mit.edu	37	chr6	5368981	5368981	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgggcaaatcctaccctCaggacgaccacagcaacctc	11	6	8	16	1	1	0	1	0	0	0	3	2	2	1	4	2	4	3	4	2	3	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:5368981C>T	ENST00000324331.6	+	2	514	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	FARS2_ENST00000274680.4_Nonsense_Mutation_p.Q60*			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	60					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	ATCCTACCCTCAGGACGACCA	0.612													29	48					0	0	0	0	T	5368981	C	T	5368981	4	4	233	1	0	0	0	0	0	1	0	0	5723	827	29	2	180	2	FARS2	6	5368981	Nonsense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08		5368981	165746086	88	42611											
GNL1	2794	broad.mit.edu	37	chr6	30523396	30523396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggttaagcctgcggatatGatgggtcacagactccccgt	8	10	12	11	2	1	2	1	1	0	1	2	3	2	3	3	3	2	1	3	3	2	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:30523396G>A	ENST00000376621.3	-	2	1145	c.175C>T	c.(175-177)Cat>Tat	p.H59Y		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	59					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTGCGGATATGATGGGTCACA	0.657													46	96					0	0	0	0	A	30523396	G	A	30523396	3	1	233	1	0	0	0	0	1	0	0	0	6586	1290	45	2	1692	2	GNL1	6	30523396	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	25154415	30523396	140591671	89	42612											
DNAH8	1769	broad.mit.edu	37	chr6	38891905	38891905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcctttcacagaaaacctGaatcttatttcaatgttggt	12	16	5	8	0	3	2	2	1	1	1	4	2	4	2	2	1	1	1	2	1	5	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:38891905G>A	ENST00000359357.3	+	71	10532	c.10278G>A	c.(10276-10278)ctG>ctA	p.L3426L	DNAH8_ENST00000441566.1_Silent_p.L3390L|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.L3643L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGAAAACCTGAATCTTATTT	0.348													30	90					0	0	0	0	A	38891905	G	A	38891905	2	1	233	1	0	0	0	0	0	0	0	1	4643	1277	45	2		2	DNAH8	6	38891905	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	8368509	38891905	132223162	90	42613											
PGC	5225	broad.mit.edu	37	chr6	41712219	41712219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaccaggaagttctggggtgGagtcccgatgctgatctcac	8	9	14	10	1	2	1	1	1	2	0	4	5	3	3	2	4	1	2	2	4	1	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:41712219G>A	ENST00000373025.3	-	3	306	c.244C>T	c.(244-246)Cca>Tca	p.P82S	PGC_ENST00000425343.2_Missense_Mutation_p.P82S	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	82					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TTCTGGGGTGGAGTCCCGATG	0.617													33	105					0	0	0	0	A	41712219	G	A	41712219	3	1	233	1	0	0	0	0	1	0	0	0	11857	1174	41	2	1259	2	PGC	6	41712219	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	2820314	41712219	129402848	91	42614											
PLA2G7	7941	broad.mit.edu	37	chr6	46678347	46678347	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctttccatgatcaatgtCaagaatcagactgagagctt	12	12	9	8	0	3	4	3	2	0	3	4	5	4	4	1	1	1	2	1	1	3	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:46678347C>G	ENST00000274793.7	-	8	908	c.712G>C	c.(712-714)Gac>Cac	p.D238H	PLA2G7_ENST00000541026.1_Missense_Mutation_p.D111H|PLA2G7_ENST00000537365.1_Missense_Mutation_p.D238H|PLA2G7_ENST00000538237.1_Missense_Mutation_p.D193H	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	238					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGATCAATGTCAAGAATCAGA	0.323													54	125					0	0	0	0	G	46678347	C	G	46678347	3	3	233	1	0	0	0	0	1	0	0	0	12081	826	29	2	633	2	PLA2G7	6	46678347	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	4966128	46678347	124436720	92	42615											
PKHD1	5314	broad.mit.edu	37	chr6	51612959	51612959	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatggcaccatagtcaaagTtcttgaaagccaagaagcca	16	7	8	10	0	2	2	1	1	1	1	2	2	2	2	3	1	2	2	3	1	5	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:51612959T>G	ENST00000371117.3	-	58	9730	c.9455A>C	c.(9454-9456)aAc>aCc	p.N3152T	PKHD1_ENST00000340994.4_Missense_Mutation_p.N3152T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3152					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATAGTCAAAGTTCTTGAAAGC	0.418													9	413					0	0	0	0	G	51612959	T	G	51612959	3	3	233	1	0	0	0	0	1	0	0	0	12043	1725	60	5	2848	5	PKHD1	6	51612959	Missense_Mutation	SNP	T	TCGA-CV-5442-01A-01D-1512-08	4934612	51612959	119502108	93	42616											
COL19A1	1310	broad.mit.edu	37	chr6	70840095	70840095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgatgaacatgaagctGgaggcctgaaaggagacaag	17	5	14	5	0	0	5	0	4	0	1	0	8	0	6	1	3	2	1	1	3	5	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:70840095G>A	ENST00000322773.4	+	18	1465	c.1363G>A	c.(1363-1365)Gga>Aga	p.G455R	COL19A1_ENST00000393344.1_Missense_Mutation_p.G77R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	455	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACATGAAGCTGGAGGCCTGAA	0.383													5	55					0	0	0	0	A	70840095	G	A	70840095	3	1	233	1	0	0	0	0	1	0	0	0	3706	1349	47	4	1429	4	COL19A1	6	70840095	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	19227136	70840095	100274972	94	42617											
IBTK	25998	broad.mit.edu	37	chr6	82935280	82935280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatgtataaacacatccatCttcagttaatacaacagtat	18	12	3	8	0	2	0	1	0	1	0	3	0	3	0	1	0	3	3	1	0	8	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:82935280C>T	ENST00000306270.7	-	6	1288	c.739G>A	c.(739-741)Gat>Aat	p.D247N	IBTK_ENST00000503631.1_Missense_Mutation_p.D247N|IBTK_ENST00000510291.1_Missense_Mutation_p.D247N	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	247					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ACACATCCATCTTCAGTTAAT	0.383													23	74					0	0	0	0	T	82935280	C	T	82935280	3	4	233	1	0	0	0	0	1	0	0	0	7529	913	32	2	3418	2	IBTK	6	82935280	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	12095185	82935280	88179787	95	42618											
LACE1	246269	broad.mit.edu	37	chr6	108843519	108843519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggattcagcagaaggactctCcatgtttaccggagaagagg	12	8	13	8	1	2	3	1	0	1	3	3	6	2	5	2	4	2	2	2	4	3	3	rs149085596	by1000genomes	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:108843519C>A	ENST00000368977.4	+	13	1523	c.1337C>A	c.(1336-1338)tCc>tAc	p.S446Y		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	446							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		GAAGGACTCTCCATGTTTACC	0.368													4	103					0.00024832	0.000252094	1	0	A	108843519	C	A	108843519	3	1	233	1	0	0	0	0	1	0	0	0	8648	855	30	2	1387	2	LACE1	6	108843519	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	25908239	108843519	62271548	96	42619											
MICAL1	64780	broad.mit.edu	37	chr6	109769587	109769587	+	Frame_Shift_Del	DEL	T	T	-																															gctcccagcccctgcagctcTgagggttccctgtgggatgt																										TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:109769587delT	ENST00000368952.4	-	13	2021	c.1731delA	c.(1729-1731)tcfs	p.S577fs	MICAL1_ENST00000358807.3_Frame_Shift_Del_p.S558fs|MICAL1_ENST00000358577.3_Frame_Shift_Del_p.S472fs			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	558	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CCTGCAGCTCTGAGGGTTCCC	0.607													86	191	---	---	---	---					-	109769587	T	-	109769587	7	5	233	1	0	1	0	1	0	0	0	0	9638	1567	55	0	1581	0	MICAL1	6	109769587	Frame_Shift_Del	DEL	T	TCGA-CV-5442-01A-01D-1512-08	926068	109769587	61345480	97	42620											
FAM184A	79632	broad.mit.edu	37	chr6	119338003	119338003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaattcttccaaagtcttaGaatgggcctcgtttaattga	11	15	7	8	1	2	2	0	1	2	1	4	2	3	2	2	1	0	1	2	1	5	7			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:119338003G>A	ENST00000338891.7	-	5	1882	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	FAM184A_ENST00000368475.4_Missense_Mutation_p.S360F|FAM184A_ENST00000352896.5_Missense_Mutation_p.S360F|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.S360F|FAM184A_ENST00000521531.1_Missense_Mutation_p.S480F	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	480										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CAAAGTCTTAGAATGGGCCTC	0.378													47	113					0	0	0	0	A	119338003	G	A	119338003	3	1	233	1	0	0	0	0	1	0	0	0	5553	942	33	2	2039	2	FAM184A	6	119338003	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	9568416	119338003	51777064	98	42621											
SYNE1	23345	broad.mit.edu	37	chr6	152456262	152456262	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctgtttgtgatggtcctGaagtatctctgcatcaaggt	9	14	11	7	0	2	2	1	2	1	0	4	2	3	2	1	2	2	4	1	2	4	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:152456262G>A	ENST00000367255.5	-	142	26366	c.25765C>T	c.(25765-25767)Cag>Tag	p.Q8589*	SYNE1_ENST00000354674.4_Nonsense_Mutation_p.Q767*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.Q744*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q8201*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.Q3113*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q8541*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q8589*|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q8541*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8589					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGATGGTCCTGAAGTATCTCT	0.383										HNSCC(10;0.0054)			21	86					0	0	0	0	A	152456262	G	A	152456262	4	1	233	1	0	0	0	0	0	1	0	0	15536	1299	45	2	648	2	SYNE1	6	152456262	Nonsense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	33118259	152456262	18658805	99	42622											
ARID1B	57492	broad.mit.edu	37	chr6	157527778	157527778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcacattcagactcactttGagagcaagatggaaattcct	14	10	8	9	0	2	3	2	1	0	3	3	5	3	4	1	1	2	2	1	1	2	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:157527778G>A	ENST00000346085.5	+	20	5504	c.5503G>A	c.(5503-5505)Gag>Aag	p.E1835K	ARID1B_ENST00000367148.1_Missense_Mutation_p.E1875K|ARID1B_ENST00000350026.5_Missense_Mutation_p.E1822K|ARID1B_ENST00000275248.4_Missense_Mutation_p.E1817K	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1822	Poly-Pro.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GACTCACTTTGAGAGCAAGAT	0.567													37	188					0	0	0	0	A	157527778	G	A	157527778	3	1	233	1	0	0	0	0	1	0	0	0	916	1291	45	2	5581	2	ARID1B	6	157527778	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	5071516	157527778	13587289	100	42623											
INTS1	26173	broad.mit.edu	37	chr7	1542722	1542722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcatcccgcttgcgctcaGaaggcaggccggaaggggct	7	5	15	14	4	1	1	1	0	0	1	2	2	2	2	3	5	1	5	3	5	2	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:1542722G>A	ENST00000389470.4	-	4	547	c.548C>T	c.(547-549)tCt>tTt	p.S183F	INTS1_ENST00000404767.3_Missense_Mutation_p.S55F			Q8N201	INT1_HUMAN	integrator complex subunit 1	55					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTTGCGCTCAGAAGGCAGGCC	0.647													25	55					0	0	0	0	A	1542722	G	A	1542722	3	1	233	1	0	0	0	0	1	0	0	0	7828	942	33	2	6592	2	INTS1	7	1542722	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08		1542722	157595941	101	42624											
HDAC9	9734	broad.mit.edu	37	chr7	18806740	18806740	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtataggtgatgactctCaaaagtttttttcctcatta	11	17	6	7	0	2	2	2	2	1	0	4	2	3	2	1	1	0	2	1	1	5	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:18806740C>T	ENST00000406451.3	+	16	2317	c.2167C>T	c.(2167-2169)Caa>Taa	p.Q723*	HDAC9_ENST00000441542.2_Nonsense_Mutation_p.Q726*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.Q723*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.Q682*	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	723	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGATGACTCTCAAAAGTTTTT	0.264													5	19					0	0	0	0	T	18806740	C	T	18806740	4	4	233	1	0	0	0	0	0	1	0	0	7064	827	29	2	2285	2	HDAC9	7	18806740	Nonsense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	17264018	18806740	140331923	102	42625											
CPVL	54504	broad.mit.edu	37	chr7	29132252	29132252	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttacctgtataaatcccGtgctacatcgtcctcattga	10	15	5	11	2	1	1	1	1	0	0	4	1	3	1	3	0	3	2	3	0	5	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:29132252G>T	ENST00000409850.1	-	10	1175	c.529C>A	c.(529-531)Cgg>Agg	p.R177R	CPVL_ENST00000396276.3_Silent_p.R177R|CPVL_ENST00000265394.5_Silent_p.R177R			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	177					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TATAAATCCCGTGCTACATCG	0.398													62	14					2.54232e-27	2.69566e-27	1	0	T	29132252	G	T	29132252	2	4	233	1	0	0	0	0	0	0	0	1	3865	1144	40	3		3	CPVL	7	29132252	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	10325512	29132252	130006411	103	42626											
GARS	2617	broad.mit.edu	37	chr7	30639566	30639566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttaatctctaacaggagCtggcgttacagcccaaagat	13	11	8	9	1	1	1	0	0	1	1	2	2	1	2	1	2	4	2	1	2	5	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:30639566C>T	ENST00000389266.3	+	3	569	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	110	WHEP-TRS.				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTAACAGGAGCTGGCGTTACA	0.383													45	101					0	0	0	0	T	30639566	C	T	30639566	2	4	233	1	0	0	0	0	0	0	0	1	6291	796	28	4		4	GARS	7	30639566	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	1507314	30639566	128499097	104	42627											
SFRP4	6424	broad.mit.edu	37	chr7	37955895	37955895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccagggtgcaaatgggcGcgtacatggcacagaggaag	12	5	15	9	2	0	1	0	0	0	1	1	2	1	2	1	4	2	3	1	4	3	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:37955895G>A	ENST00000436072.2	-	1	622	c.245C>T	c.(244-246)gCg>gTg	p.A82V	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	82	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCAAATGGGCGCGTACATGGC	0.622													59	34					0	0	0	0	A	37955895	G	A	37955895	3	1	233	1	0	0	0	0	1	0	0	0	14250	1087	38	1	819	1	SFRP4	7	37955895	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	7316329	37955895	121182768	105	42628											
VPS41	27072	broad.mit.edu	37	chr7	38812186	38812186	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtctcgttccttggccactAcaacatctctcggactcacg	7	11	8	15	3	3	0	1	0	2	0	7	1	4	1	2	3	2	1	2	3	2	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:38812186A>G	ENST00000310301.4	-	13	1118	c.1064T>C	c.(1063-1065)gTa>gCa	p.V355A	VPS41_ENST00000395969.2_Missense_Mutation_p.V330A	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	355					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTTGGCCACTACAACATCTCT	0.408													25	53					0	0	0	0	G	38812186	A	G	38812186	3	3	233	1	0	0	0	0	1	0	0	0	17306	391	14	5	1568	5	VPS41	7	38812186	Missense_Mutation	SNP	A	TCGA-CV-5442-01A-01D-1512-08	856291	38812186	120326477	106	42629											
CALN1	83698	broad.mit.edu	37	chr7	71252799	71252799	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtatctggttggctgcaatCagcatgacactgatgatgaa	12	11	11	7	0	2	4	1	4	1	0	2	4	2	4	0	2	2	5	0	2	3	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:71252799C>G	ENST00000395275.2	-	7	1135	c.747G>C	c.(745-747)ctG>ctC	p.L249L	CALN1_ENST00000395276.2_Silent_p.L207L|CALN1_ENST00000405452.2_Silent_p.L207L|CALN1_ENST00000431984.1_Silent_p.L207L|CALN1_ENST00000329008.5_Silent_p.L207L|CALN1_ENST00000412588.1_Silent_p.L249L	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	207						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.L249L(1)|p.L207L(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGGCTGCAATCAGCATGACAC	0.592													25	51					0	0	0	0	G	71252799	C	G	71252799	2	3	233	1	0	0	0	0	0	0	0	1	2616	813	29	2		2	CALN1	7	71252799	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	32440613	71252799	87885864	107	42630											
MAGI2	9863	broad.mit.edu	37	chr7	77797320	77797320	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcgatgacatagcggtgggTtttgccggctactggaatcc	7	11	14	9	3	0	1	0	1	0	0	2	3	1	2	2	4	3	2	2	4	3	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:77797320T>G	ENST00000354212.4	-	15	2762	c.2509A>C	c.(2509-2511)Acc>Ccc	p.T837P	MAGI2_ENST00000419488.1_Missense_Mutation_p.T823P|MAGI2_ENST00000522391.1_Missense_Mutation_p.T837P	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	837	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAGCGGTGGGTTTTGCCGGCT	0.552													175	77					0	0	0	0	G	77797320	T	G	77797320	3	3	233	1	0	0	0	0	1	0	0	0	9260	1725	60	5	1890	5	MAGI2	7	77797320	Missense_Mutation	SNP	T	TCGA-CV-5442-01A-01D-1512-08	6544521	77797320	81341343	108	42631											
MAGI2	9863	broad.mit.edu	37	chr7	78131061	78131061	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggataaggctgggagggcatCtcccctgaggcacctgcact	8	7	14	12	0	1	1	0	1	1	0	2	3	1	3	3	5	1	4	3	5	1	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:78131061C>T	ENST00000354212.4	-	5	1051	c.798G>A	c.(796-798)gaG>gaA	p.E266E	MAGI2_ENST00000536571.1_Silent_p.E98E|MAGI2_ENST00000535697.1_Silent_p.E103E|MAGI2_ENST00000419488.1_Silent_p.E266E|MAGI2_ENST00000522391.1_Silent_p.E266E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	266	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGAGGGCATCTCCCCTGAGG	0.498													38	73					0	0	0	0	T	78131061	C	T	78131061	2	4	233	1	0	0	0	0	0	0	0	1	9260	912	32	2		2	MAGI2	7	78131061	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	333741	78131061	81007602	109	42632											
SEMA3C	10512	broad.mit.edu	37	chr7	80546041	80546041	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggctgggaagatcctttCacacagatagaacaaataaa	16	8	10	7	0	1	3	1	0	0	3	2	4	2	4	1	3	1	1	1	3	6	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:80546041C>T	ENST00000265361.3	-	2	618	c.57G>A	c.(55-57)gtG>gtA	p.V19V	SEMA3C_ENST00000544525.1_Silent_p.V37V|SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000419255.2_Silent_p.V19V|SEMA3C_ENST00000536800.1_5'UTR	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	19					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGATCCTTTCACACAGATAG	0.343													40	128					0	0	0	0	T	80546041	C	T	80546041	2	4	233	1	0	0	0	0	0	0	0	1	14113	813	29	2		2	SEMA3C	7	80546041	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	2414980	80546041	78592622	110	42633											
PDK4	5166	broad.mit.edu	37	chr7	95215081	95215081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagtttttctatagactCagaagacaaagcctaaaaga	17	10	8	6	0	2	4	1	0	1	4	2	5	2	5	1	1	1	1	1	1	7	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:95215081C>T	ENST00000005178.5	-	11	1305	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	370					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TCTATAGACTCAGAAGACAAA	0.378													19	63					0	0	0	0	T	95215081	C	T	95215081	3	4	233	1	0	0	0	0	1	0	0	0	11749	835	29	2	131	2	PDK4	7	95215081	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	14669040	95215081	63923582	111	42634											
LMTK2	22853	broad.mit.edu	37	chr7	97820093	97820093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatgccgcacagccgtattCaaacctttccaacttagatg	12	10	6	13	2	1	1	1	0	0	1	2	1	2	1	4	0	4	2	4	0	5	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:97820093C>T	ENST00000297293.5	+	10	1345	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	351	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCCGTATTCAAACCTTTCC	0.468													223	170					0	0	0	0	T	97820093	C	T	97820093	3	4	233	1	0	0	0	0	1	0	0	0	8914	838	29	2	1090	2	LMTK2	7	97820093	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	2605012	97820093	61318570	112	42635											
PLOD3	8985	broad.mit.edu	37	chr7	100859192	100859192	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctctgccttccctaccctCagtcctgggtccaggtagag	5	11	9	16	0	2	1	1	0	1	1	6	1	6	1	6	2	2	1	6	2	2	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:100859192C>G	ENST00000223127.3	-	5	1010	c.612G>C	c.(610-612)ctG>ctC	p.L204L		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	204					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TCCCTACCCTCAGTCCTGGGT	0.582													13	64					0	0	0	0	G	100859192	C	G	100859192	2	3	233	1	0	0	0	0	0	0	0	1	12175	813	29	2		2	PLOD3	7	100859192	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	3039099	100859192	58279471	113	42636											
PSMC2	5701	broad.mit.edu	37	chr7	102996211	102996211	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctgcagataagcagacactCcagagtgaacagcctttaca	14	7	9	11	0	0	4	0	1	0	3	1	4	1	4	2	0	5	3	2	0	3	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:102996211C>G	ENST00000435765.1	+	5	672	c.261C>G	c.(259-261)ctC>ctG	p.L87L	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Silent_p.L87L|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AGCAGACACTCCAGAGTGAAC	0.458													21	35					0	0	0	0	G	102996211	C	G	102996211	2	3	233	1	0	0	0	0	0	0	0	1	12765	842	30	2		2	PSMC2	7	102996211	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	2137019	102996211	56142452	114	42637											
RELN	5649	broad.mit.edu	37	chr7	103130201	103130201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcagaccttggaagctctCgtcgcagatgcagatggcac	10	9	11	11	2	2	3	1	0	1	3	4	4	2	4	1	2	2	4	1	2	1	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:103130201C>T	ENST00000424685.2	-	60	9910	c.9751G>A	c.(9751-9753)Gag>Aag	p.E3251K	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.E3251K|RELN_ENST00000343529.5_Missense_Mutation_p.E3251K			P78509	RELN_HUMAN	reelin	3251	EGF-like 8.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGGAAGCTCTCGTCGCAGATG	0.522													10	33					0	0	0	0	T	103130201	C	T	103130201	3	4	233	1	0	0	0	0	1	0	0	0	13302	893	31	1	655	1	RELN	7	103130201	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	133990	103130201	56008462	115	42638											
RELN	5649	broad.mit.edu	37	chr7	103389927	103389927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaagtcatctctcaggAtaatgctgtcactatgtatt	12	14	7	8	0	5	0	4	0	1	0	6	1	5	1	0	1	1	2	0	1	4	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:103389927A>G	ENST00000424685.2	-	6	761	c.602T>C	c.(601-603)aTc>aCc	p.I201T	RELN_ENST00000343529.5_Missense_Mutation_p.I201T|RELN_ENST00000428762.1_Missense_Mutation_p.I201T			P78509	RELN_HUMAN	reelin	201					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCTCTCAGGATAATGCTGTC	0.343													105	78					0	0	0	0	G	103389927	A	G	103389927	3	3	233	1	0	0	0	0	1	0	0	0	13302	333	12	5	10020	5	RELN	7	103389927	Missense_Mutation	SNP	A	TCGA-CV-5442-01A-01D-1512-08	259726	103389927	55748736	116	42639											
DPP6	1804	broad.mit.edu	37	chr7	154595624	154595624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacctccggggactgggaCgtgaccaagatcctagccta	10	7	11	13	2	1	2	1	1	0	1	3	4	3	4	5	3	1	0	5	3	3	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:154595624C>T	ENST00000404039.1	+	14	1853	c.1266C>T	c.(1264-1266)gaC>gaT	p.D422D	DPP6_ENST00000332007.3_Silent_p.D424D|DPP6_ENST00000427557.1_Silent_p.D379D|DPP6_ENST00000377770.3_Silent_p.D486D	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	486					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGGACTGGGACGTGACCAAGA	0.557													7	30					0	0	0	0	T	154595624	C	T	154595624	2	4	233	1	0	0	0	0	0	0	0	1	4766	535	19	1		1	DPP6	7	154595624	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	51205697	154595624	4543039	117	42640											
MYOM2	9172	broad.mit.edu	37	chr8	2054178	2054178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtttaaaatcgaaaccGtgggggatcagtaagtcagg	14	8	14	5	2	2	1	2	0	0	1	3	3	2	2	1	4	1	2	1	4	4	3	rs140995511		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:2054178G>T	ENST00000262113.4	+	22	3022	c.2881G>T	c.(2881-2883)Gtg>Ttg	p.V961L	MYOM2_ENST00000523438.1_Missense_Mutation_p.V386L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	961	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AATCGAAACCGTGGGGGATCA	0.448													16	95					7.26314e-15	7.53382e-15	1	0	T	2054178	G	T	2054178	3	4	233	1	0	0	0	0	1	0	0	0	10162	1145	40	3	2963	3	MYOM2	8	2054178	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08		2054178	144309844	118	42641											
TNKS	8658	broad.mit.edu	37	chr8	9437728	9437728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggtgctaatgtccacgctCgtgatgatggaggtctcatc	7	12	13	9	2	1	2	1	2	1	0	5	3	2	3	1	3	1	2	1	3	1	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:9437728C>T	ENST00000310430.6	+	2	759	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	TNKS_ENST00000520408.1_Missense_Mutation_p.R245C|TNKS_ENST00000518281.1_Missense_Mutation_p.R8C	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	245					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGTCCACGCTCGTGATGATGG	0.418													69	193					0	0	0	0	T	9437728	C	T	9437728	3	4	233	1	0	0	0	0	1	0	0	0	16413	884	31	1	739	1	TNKS	8	9437728	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	7383550	9437728	136926294	119	42642											
TM2D2	83877	broad.mit.edu	37	chr8	38851142	38851142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaggcatggcactggactGaagtgtgttccacgtcgctg	8	10	13	10	2	0	1	0	1	0	0	2	2	1	2	1	3	0	4	1	3	2	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:38851142G>A	ENST00000412303.1	-	3	618	c.224C>T	c.(223-225)tCa>tTa	p.S75L	TM2D2_ENST00000456845.2_Missense_Mutation_p.S75L|TM2D2_ENST00000522434.1_5'UTR|TM2D2_ENST00000456397.2_Missense_Mutation_p.S118L|TM2D2_ENST00000397070.2_Missense_Mutation_p.S75L	NM_001024380.1|NM_001024381.1|NM_031940.3	NP_001019551.1|NP_001019552.1|NP_114146.3	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	118						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GCACTGGACTGAAGTGTGTTC	0.448													26	56					0	0	0	0	A	38851142	G	A	38851142	3	1	233	1	0	0	0	0	1	0	0	0	16058	1294	45	2	299	2	TM2D2	8	38851142	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	29413414	38851142	107512880	120	42643											
PRDM14	63978	broad.mit.edu	37	chr8	70981882	70981882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagggaggcgccatccGgaaggggaaggggggcatgg	10	2	21	8	2	0	0	0	0	0	0	1	3	1	3	2	9	1	2	2	9	3	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:70981882G>A	ENST00000276594.2	-	2	415	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGCGCCATCCGGAAGGGGAAG	0.652													7	10					0	0	0	0	A	70981882	G	A	70981882	3	1	233	1	0	0	0	0	1	0	0	0	12535	1115	39	1	1529	1	PRDM14	8	70981882	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	32130740	70981882	75382140	121	42644											
HNF4G	3174	broad.mit.edu	37	chr8	76465281	76465281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttcttaatactagatctCagtctcaagccctgggtcaa	10	14	6	11	0	4	1	3	0	3	1	6	1	4	1	1	1	2	0	1	1	5	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:76465281C>T	ENST00000396423.2	+	5	588	c.464C>T	c.(463-465)tCa>tTa	p.S155L	HNF4G_ENST00000354370.1_Missense_Mutation_p.S118L	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	118					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TACTAGATCTCAGTCTCAAGC	0.348													25	63					0	0	0	0	T	76465281	C	T	76465281	3	4	233	1	0	0	0	0	1	0	0	0	7304	838	29	2	482	2	HNF4G	8	76465281	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	5483399	76465281	69898741	122	42645											
HNF4G	3174	broad.mit.edu	37	chr8	76471076	76471076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtaaaaattaagaacatGaggttccaagtgcagatcgg	16	8	10	7	1	0	3	0	1	0	2	2	3	1	3	2	2	2	3	2	2	6	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:76471076G>A	ENST00000396423.2	+	8	1021	c.897G>A	c.(895-897)atG>atA	p.M299I	HNF4G_ENST00000354370.1_Missense_Mutation_p.M262I	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	262					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTAAGAACATGAGGTTCCAAG	0.453													36	71					0	0	0	0	A	76471076	G	A	76471076	3	1	233	1	0	0	0	0	1	0	0	0	7304	1290	45	2	927	2	HNF4G	8	76471076	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	5795	76471076	69892946	123	42646											
RIMS2	9699	broad.mit.edu	37	chr8	105105807	105105807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaggactagtagtgcttctCgtttcagcagcacaagctac	11	10	9	11	1	2	0	1	0	1	0	3	1	2	1	0	1	5	6	0	1	5	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:105105807C>T	ENST00000436393.2	+	21	3071	c.2830C>T	c.(2830-2832)Cgt>Tgt	p.R944C	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	398					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGTGCTTCTCGTTTCAGCAG	0.423										HNSCC(12;0.0054)			42	111					0	0	0	0	T	105105807	C	T	105105807	3	4	233	1	0	0	0	0	1	0	0	0	13453	899	31	1		1	RIMS2	8	105105807	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	28634731	105105807	41258215	124	42647											
PKHD1L1	93035	broad.mit.edu	37	chr8	110401306	110401306	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acattaacttttttttaattAgatatggtctaaaactggat	14	18	5	4	0	1	1	0	0	1	1	1	2	1	2	0	2	2	0	0	2	6	8			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:110401306A>T	ENST00000378402.5	+	8	727		c.e8-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTTTTAATTAGATATGGTCT	0.294										HNSCC(38;0.096)			43	94					0	0	0	0	T	110401306	A	T	110401306	5	4	233	1	0	0	0	0	0	0	1	0	12044	434	15	5	652	5	PKHD1L1	8	110401306	Splice_Site	SNP	A	TCGA-CV-5442-01A-01D-1512-08	5295499	110401306	35962716	125	42648											
CSMD3	114788	broad.mit.edu	37	chr8	113519017	113519017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagggaagtttggtgaaaGaataaagcctgaagatcctg	15	9	13	4	0	0	5	0	3	0	2	1	6	1	6	2	2	1	1	2	2	6	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:113519017G>A	ENST00000297405.5	-	29	5042	c.4798C>T	c.(4798-4800)Ctt>Ttt	p.L1600F	CSMD3_ENST00000455883.2_Missense_Mutation_p.L1496F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L1600F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1560F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1600	CUB 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGGTGAAAGAATAAAGCCT	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	76					0	0	0	0	A	113519017	G	A	113519017	3	1	233	1	0	0	0	0	1	0	0	0	3978	942	33	2	6497	2	CSMD3	8	113519017	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	3117711	113519017	32845005	126	42649											
FER1L6	654463	broad.mit.edu	37	chr8	125076810	125076810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccaaaagatggaaaacCtaaggtcagactaaaatccc	18	5	7	11	0	1	2	1	0	0	2	2	3	2	3	4	2	1	0	4	2	7	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:125076810C>T	ENST00000522917.1	+	26	3757	c.3551C>T	c.(3550-3552)cCt>cTt	p.P1184L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1184L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1184						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GATGGAAAACCTAAGGTCAGA	0.517													18	52					0	0	0	0	T	125076810	C	T	125076810	3	4	233	1	0	0	0	0	1	0	0	0	5860	681	24	4	3649	4	FER1L6	8	125076810	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	11557793	125076810	21287212	127	42650											
C8orf33	65265	broad.mit.edu	37	chr8	146278237	146278238	+	Frame_Shift_Ins	INS	-	-	A																															aatggaggcgagaaggcctcINSagagaaactcgccccagaag																										TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:146278237_146278238insA	ENST00000331434.6	+	2	386_387	c.272_273insA	c.(271-273)tgafs	p.*91fs		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	91										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GAGAAGGCCTCAGAGAAACTCG	0.594													18	51	---	---	---	---					A	146278238	-	A	146278237	7	5	233	1	0	1	1	0	0	0	0	0	2445	838	29	0	278	0	C8orf33	8	146278237	Frame_Shift_Ins	INS	-	TCGA-CV-5442-01A-01D-1512-08	21201427	146278237	85785	128	42651											
DOCK8	81704	broad.mit.edu	37	chr9	390558	390558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtatgcctggttcttctttGagcttctggtgagattcttg	5	18	11	7	0	4	2	0	2	4	1	4	3	4	2	1	2	2	3	1	2	1	7			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:390558G>C	ENST00000432829.2	+	24	3074	c.2758G>C	c.(2758-2760)Gag>Cag	p.E920Q	DOCK8_ENST00000382329.1_Missense_Mutation_p.E455Q|DOCK8_ENST00000453981.1_Missense_Mutation_p.E988Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.E888Q|DOCK8_ENST00000382331.1_Missense_Mutation_p.E290Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	988					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GTTCTTCTTTGAGCTTCTGGT	0.463													24	83					0	0	0	0	C	390558	G	C	390558	3	2	233	1	0	0	0	0	1	0	0	0	4729	1291	45	2	3056	2	DOCK8	9	390558	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08		390558	140822873	129	42652											
GLIS3	169792	broad.mit.edu	37	chr9	4118651	4118651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagagtggctactttccGtgccaaaaaggtaggatggt	12	9	14	6	1	0	1	0	0	0	1	1	3	1	2	2	5	2	2	2	5	5	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:4118651G>A	ENST00000324333.10	-	3	555	c.362C>T	c.(361-363)aCg>aTg	p.T121M	GLIS3_ENST00000381971.3_Missense_Mutation_p.T276M	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	121	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GCTACTTTCCGTGCCAAAAAG	0.557													43	108					0	0	0	0	A	4118651	G	A	4118651	3	1	233	1	0	0	0	0	1	0	0	0	6498	1145	40	1	1997	1	GLIS3	9	4118651	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	3728093	4118651	137094780	130	42653											
UHRF2	115426	broad.mit.edu	37	chr9	6460620	6460620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtcaaggatcttagacCacgagctagaaccattttga	14	10	9	8	1	2	3	1	1	1	2	2	6	2	4	2	1	2	1	2	1	5	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:6460620C>T	ENST00000276893.5	+	4	860	c.692C>T	c.(691-693)cCa>cTa	p.P231L		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	231	Interaction with PCNP.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GATCTTAGACCACGAGCTAGA	0.368													39	113					0	0	0	0	T	6460620	C	T	6460620	3	4	233	1	0	0	0	0	1	0	0	0	17066	594	21	4	706	4	UHRF2	9	6460620	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	2341969	6460620	134752811	131	42654											
UHRF2	115426	broad.mit.edu	37	chr9	6506129	6506129	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgattcccaatgagattCtgcagactctacttgacctt	10	14	6	11	0	3	4	1	3	2	2	4	5	4	4	2	0	2	1	2	0	2	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:6506129C>G	ENST00000276893.5	+	16	2527	c.2359C>G	c.(2359-2361)Ctg>Gtg	p.L787V	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	787					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CAATGAGATTCTGCAGACTCT	0.468													43	117					0	0	0	0	G	6506129	C	G	6506129	3	3	233	1	0	0	0	0	1	0	0	0	17066	912	32	2	2421	2	UHRF2	9	6506129	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	45509	6506129	134707302	132	42655											
BNC2	54796	broad.mit.edu	37	chr9	16436303	16436303	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgacttcctgggctttttcTtgggtgccaggtcagcactg	4	15	12	10	0	2	1	1	1	1	0	3	1	3	1	2	3	2	2	2	3	0	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:16436303T>A	ENST00000380672.4	-	6	1946	c.1889A>T	c.(1888-1890)aAg>aTg	p.K630M	BNC2_ENST00000380666.2_Missense_Mutation_p.K630M|BNC2_ENST00000545497.1_Missense_Mutation_p.K535M|BNC2_ENST00000380667.2_Missense_Mutation_p.K563M	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	630				K -> T (in Ref. 1; BAC03837).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGGCTTTTTCTTGGGTGCCAG	0.527													40	88					0	0	0	0	A	16436303	T	A	16436303	3	1	233	1	0	0	0	0	1	0	0	0	1480	1609	56	5	1418	5	BNC2	9	16436303	Missense_Mutation	SNP	T	TCGA-CV-5442-01A-01D-1512-08	9930174	16436303	124777128	133	42656											
PAX5	5079	broad.mit.edu	37	chr9	37015106	37015106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttggcgtttatattcagCgattttttccaccactttgg	7	19	7	8	2	1	0	1	0	0	0	2	1	2	0	2	2	1	1	2	2	2	10			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:37015106C>T	ENST00000358127.4	-	3	372	c.298G>A	c.(298-300)Gct>Act	p.A100T	PAX5_ENST00000520281.1_Missense_Mutation_p.A100T|PAX5_ENST00000377852.2_Missense_Mutation_p.A100T|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377847.2_Missense_Mutation_p.A100T|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000377853.2_Missense_Mutation_p.A100T|PAX5_ENST00000523241.1_Missense_Mutation_p.A100T|PAX5_ENST00000520154.1_Missense_Mutation_p.A100T|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000414447.1_Missense_Mutation_p.A100T	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	100	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TTATATTCAGCGATTTTTTCC	0.522			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								138	315					0	0	0	0	T	37015106	C	T	37015106	3	4	233	1	0	0	0	0	1	0	0	0	11553	768	27	1	909	1	PAX5	9	37015106	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	20578803	37015106	104198325	134	42657											
APBA1	320	broad.mit.edu	37	chr9	72131087	72131087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatgtccttgatggccagcGagatggcatcgcgcttctcc	6	11	12	12	3	1	3	0	2	1	1	4	4	2	3	3	2	1	2	3	2	0	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:72131087G>A	ENST00000265381.4	-	2	1262	c.1040C>T	c.(1039-1041)tCg>tTg	p.S347L		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	347					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.S347L(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GATGGCCAGCGAGATGGCATC	0.701													32	76					0	0	0	0	A	72131087	G	A	72131087	3	1	233	1	0	0	0	0	1	0	0	0	757	1059	37	1	1521	1	APBA1	9	72131087	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	35115981	72131087	69082344	135	42658											
TRPM6	140803	broad.mit.edu	37	chr9	77448916	77448916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggattgtctacttacatCttttccaataaggtctctct	11	16	5	9	0	4	0	0	0	4	0	6	1	5	1	1	2	2	0	1	2	5	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:77448916C>A	ENST00000451710.3	-	6	904	c.667G>T	c.(667-669)Gat>Tat	p.D223Y	TRPM6_ENST00000376864.4_Missense_Mutation_p.D223Y|TRPM6_ENST00000376871.3_Missense_Mutation_p.D223Y|TRPM6_ENST00000376872.3_Missense_Mutation_p.D223Y|TRPM6_ENST00000361255.3_Missense_Mutation_p.D218Y|TRPM6_ENST00000360774.1_Missense_Mutation_p.D223Y|TRPM6_ENST00000359047.2_Missense_Mutation_p.D223Y|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.D218Y			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	223					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						CTACTTACATCTTTTCCAATA	0.408													71	54					1.02016e-41	1.09209e-41	1	0	A	77448916	C	A	77448916	3	1	233	1	0	0	0	0	1	0	0	0	16685	913	32	2	5537	2	TRPM6	9	77448916	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	5317829	77448916	63764515	136	42659											
RASEF	158158	broad.mit.edu	37	chr9	85627423	85627423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacgcgttttgattgttcttCgagctgaaagaccaaataaa	13	13	8	7	3	1	3	0	2	1	1	2	4	1	3	1	0	2	3	1	0	5	7			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:85627423C>T	ENST00000376447.3	-	5	1029	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	257					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GATTGTTCTTCGAGCTGAAAG	0.323													11	28					0	0	0	0	T	85627423	C	T	85627423	3	4	233	1	0	0	0	0	1	0	0	0	13150	893	31	1	1505	1	RASEF	9	85627423	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	8178507	85627423	55586008	137	42660											
C9orf84	158401	broad.mit.edu	37	chr9	114454011	114454011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taattctctccagaaagtctCatcttttgaactttcacatg	11	16	4	10	0	4	2	2	1	3	1	7	2	5	2	1	0	1	0	1	0	3	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:114454011C>T	ENST00000394779.3	-	23	4181	c.3937G>A	c.(3937-3939)Gag>Aag	p.E1313K	C9orf84_ENST00000394777.4_Missense_Mutation_p.E1278K|C9orf84_ENST00000318737.4_Missense_Mutation_p.E1352K|C9orf84_ENST00000374287.3_Missense_Mutation_p.E1352K	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1352										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGAAAGTCTCATCTTTTGAA	0.348													38	110					0	0	0	0	T	114454011	C	T	114454011	3	4	233	1	0	0	0	0	1	0	0	0	2525	835	29	2	288	2	C9orf84	9	114454011	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	28826588	114454011	26759420	138	42661											
STRBP	55342	broad.mit.edu	37	chr9	125921433	125921433	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctcaaggcctccccagcGcccaaaggtctattacaagt	10	8	8	15	2	2	0	1	0	2	0	4	0	3	0	4	2	2	0	4	2	5	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:125921433G>A	ENST00000447404.2	-	8	1081	c.777C>T	c.(775-777)ggC>ggT	p.G259G	STRBP_ENST00000360998.3_Silent_p.G245G|STRBP_ENST00000348403.5_Silent_p.G259G			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	259	DZF.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CCTCCCCAGCGCCCAAAGGTC	0.393													41	98					0	0	0	0	A	125921433	G	A	125921433	2	1	233	1	0	0	0	0	0	0	0	1	15417	1074	38	1		1	STRBP	9	125921433	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	11467422	125921433	15291998	139	42662											
ASB6	140459	broad.mit.edu	37	chr9	132401583	132401583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtccaaggggctactctCgtggatctgagccaaggaag	10	7	14	10	1	2	1	0	1	2	0	4	3	3	3	2	5	2	1	2	5	4	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:132401583C>T	ENST00000277458.4	-	4	574	c.409G>A	c.(409-411)Gag>Aag	p.E137K	ASB6_ENST00000450050.2_Missense_Mutation_p.E58K|ASB6_ENST00000277459.4_Intron	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	137					intracellular signal transduction	cytoplasm		p.E137K(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GGGCTACTCTCGTGGATCTGA	0.632													33	75					0	0	0	0	T	132401583	C	T	132401583	3	4	233	1	0	0	0	0	1	0	0	0	1031	893	31	1	868	1	ASB6	9	132401583	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	6480150	132401583	8811848	140	42663											
GPR107	57720	broad.mit.edu	37	chr9	132890983	132890983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtataaattccgtccggcttCagataacccctacctacaac	12	10	5	14	2	1	1	1	0	0	1	3	1	3	1	5	1	4	2	5	1	7	7			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:132890983C>T	ENST00000372406.1	+	19	2156	c.1649C>T	c.(1648-1650)tCa>tTa	p.S550L	GPR107_ENST00000347136.6_Missense_Mutation_p.S502L|GPR107_ENST00000372410.3_Missense_Mutation_p.S521L	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	550						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CGTCCGGCTTCAGATAACCCC	0.448													66	213					0	0	0	0	T	132890983	C	T	132890983	3	4	233	1	0	0	0	0	1	0	0	0	6672	838	29	2	1723	2	GPR107	9	132890983	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	489400	132890983	8322448	141	42664											
DBH	1621	broad.mit.edu	37	chr9	136518063	136518063	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacattggcttttcctcaggGagatgtgctcatcacctcct	7	13	8	13	0	3	1	3	0	0	1	5	2	5	1	3	2	1	2	3	2	0	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:136518063G>A	ENST00000393056.2	+	9	1388	c.1374_splice	c.e9-1	p.G459_splice		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	459					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TTTCCTCAGGGAGATGTGCTC	0.632													30	61					0	0	0	0	A	136518063	G	A	136518063	5	1	233	1	0	0	0	0	0	0	1	0	4283	1188	41	2	1410	2	DBH	9	136518063	Splice_Site	SNP	G	TCGA-CV-5442-01A-01D-1512-08	3627080	136518063	4695368	142	42665											
SNAPC4	6621	broad.mit.edu	37	chr9	139278482	139278482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagctatttttgcccagtGacctgcaaaagccaaacccc	13	8	7	13	0	0	2	0	1	0	1	0	2	0	2	5	0	5	2	5	0	5	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:139278482G>A	ENST00000298532.2	-	14	1791	c.1423C>T	c.(1423-1425)Cac>Tac	p.H475Y		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	475	HTH myb-type 3.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TTTGCCCAGTGACCTGCAAAA	0.552													15	40					0	0	0	0	A	139278482	G	A	139278482	3	1	233	1	0	0	0	0	1	0	0	0	14925	1290	45	2	3022	2	SNAPC4	9	139278482	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	2760419	139278482	1934949	143	42666											
ARHGAP21	57584	broad.mit.edu	37	chr10	24896476	24896476	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccctcatcatatgattttGatctttctgtctttgagttg	7	19	7	8	0	5	3	2	3	3	0	5	4	5	3	1	0	0	1	1	0	1	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:24896476G>C	ENST00000396432.2	-	11	3122	c.2636C>G	c.(2635-2637)tCa>tGa	p.S879*	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.S666*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	878					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATATGATTTTGATCTTTCTGT	0.383													44	78					0	0	0	0	C	24896476	G	C	24896476	4	2	233	1	0	0	0	0	0	1	0	0	873	1294	45	2	3304	2	ARHGAP21	10	24896476	Nonsense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08		24896476	110638271	144	42667											
MYO3A	53904	broad.mit.edu	37	chr10	26500926	26500926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaccgccgtcggaaggCgctggagcctgcggggcagc	6	4	17	14	5	1	0	1	0	0	0	2	2	1	2	3	5	3	2	3	5	1	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:26500926C>T	ENST00000543632.1	+	17	1991	c.1931C>T	c.(1930-1932)gCg>gTg	p.A644V	MYO3A_ENST00000265944.5_3'UTR			Q8NEV4	MYO3A_HUMAN	myosin IIIA	0	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CGTCGGAAGGCGCTGGAGCCT	0.687													5	9					0	0	0	0	T	26500926	C	T	26500926	3	4	233	1	0	0	0	0	1	0	0	0	10146	783	27	1		1	MYO3A	10	26500926	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	1604450	26500926	109033821	145	42668											
DKK1	22943	broad.mit.edu	37	chr10	54074713	54074713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagaggacgaggagtgcGgcactgatgagtactgcgct	9	6	17	9	4	0	3	0	2	0	1	0	6	0	5	0	3	3	4	0	3	1	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:54074713G>A	ENST00000373970.3	+	2	413	c.274G>A	c.(274-276)Ggc>Agc	p.G92S	DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	92	DKK-type Cys-1.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						CGAGGAGTGCGGCACTGATGA	0.672											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	16					0	0	0	0	A	54074713	G	A	54074713	3	1	233	1	0	0	0	0	1	0	0	0	4581	1116	39	1	280	1	DKK1	10	54074713	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	27573787	54074713	81460034	146	42669											
PCDH15	65217	broad.mit.edu	37	chr10	55582924	55582924	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggattatgggcacttaagTcatcctcatcagatagaaat	13	11	10	7	0	3	2	3	0	0	2	4	3	4	3	1	3	0	1	1	3	4	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:55582924T>A	ENST00000361849.3	-	34	4962	c.4568A>T	c.(4567-4569)gAc>gTc	p.D1523V	PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1498V|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1521V|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1518V|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1481V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1452V|PCDH15_ENST00000395440.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1521					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCACTTAAGTCATCCTCATC	0.373										HNSCC(58;0.16)			4	164					0	0	0	0	A	55582924	T	A	55582924	3	1	233	1	0	0	0	0	1	0	0	0	11582	1667	58	5	2915	5	PCDH15	10	55582924	Missense_Mutation	SNP	T	TCGA-CV-5442-01A-01D-1512-08	1508211	55582924	79951823	147	42670											
DDX50	79009	broad.mit.edu	37	chr10	70706381	70706381	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggccacaaacggagttttGactgagtatttgatagttaa	12	12	12	5	1	0	3	0	3	0	0	0	4	0	4	1	3	1	3	1	3	4	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:70706381G>C	ENST00000373585.3	+	15	2316	c.2209G>C	c.(2209-2211)Gac>Cac	p.D737H		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	737						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ACGGAGTTTTGACTGAGTATT	0.423													55	74					0	0	0	0	C	70706381	G	C	70706381	3	2	233	1	0	0	0	0	1	0	0	0	4400	1290	45	2	2267	2	DDX50	10	70706381	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	15123457	70706381	64828366	148	42671											
SORCS1	114815	broad.mit.edu	37	chr10	108536300	108536300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtatgctcaccttttggtCttgactgtatgccagaatcc	9	14	8	10	0	2	2	1	1	1	1	3	2	3	2	3	1	2	3	3	1	4	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:108536300C>T	ENST00000263054.6	-	4	884	c.877G>A	c.(877-879)Gac>Aac	p.D293N	SORCS1_ENST00000344440.6_Missense_Mutation_p.D293N	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	293						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACCTTTTGGTCTTGACTGTAT	0.413													7	153					0	0	0	0	T	108536300	C	T	108536300	3	4	233	1	0	0	0	0	1	0	0	0	15018	913	32	2	2955	2	SORCS1	10	108536300	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	37829919	108536300	26998447	149	42672											
SORCS1	114815	broad.mit.edu	37	chr10	108536327	108536327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatgccagaatccagtcttCttgtttggggtgaaaaagca	11	12	11	7	0	2	2	0	1	2	1	3	2	3	2	2	2	2	3	2	2	4	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:108536327C>T	ENST00000263054.6	-	4	857	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	SORCS1_ENST00000344440.6_Missense_Mutation_p.E284K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	284						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATCCAGTCTTCTTGTTTGGGG	0.413													57	93					0	0	0	0	T	108536327	C	T	108536327	3	4	233	1	0	0	0	0	1	0	0	0	15018	922	32	2	2982	2	SORCS1	10	108536327	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	27	108536327	26998420	150	42673											
SMC3	9126	broad.mit.edu	37	chr10	112362632	112362632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagaaatgcaacagctttCaggtggacagaaatccttgg	14	8	12	7	0	1	2	1	0	0	2	2	5	2	3	1	3	3	2	1	3	3	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:112362632C>T	ENST00000361804.4	+	27	3473	c.3347C>T	c.(3346-3348)tCa>tTa	p.S1116L		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1116	Ala/Asp-rich (DA-box).				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CAACAGCTTTCAGGTGGACAG	0.398													29	97					0	0	0	0	T	112362632	C	T	112362632	3	4	233	1	0	0	0	0	1	0	0	0	14872	838	29	2	3453	2	SMC3	10	112362632	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	3826305	112362632	23172115	151	42674											
GPAM	57678	broad.mit.edu	37	chr10	113932772	113932772	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttgacctttgtgaatttGaatgttccaaaagaagctgt	13	14	9	5	0	0	4	0	3	0	1	1	4	1	4	2	0	1	3	2	0	6	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:113932772G>A	ENST00000348367.4	-	8	810	c.613C>T	c.(613-615)Caa>Taa	p.Q205*	GPAM_ENST00000369425.1_Nonsense_Mutation_p.Q205*|GPAM_ENST00000423155.1_Nonsense_Mutation_p.Q205*			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	205					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TTGTGAATTTGAATGTTCCAA	0.373													25	54					0	0	0	0	A	113932772	G	A	113932772	4	1	233	1	0	0	0	0	0	1	0	0	6637	1299	45	2	1933	2	GPAM	10	113932772	Nonsense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	1570140	113932772	21601975	152	42675											
OR52I1	390037	broad.mit.edu	37	chr11	4615302	4615302	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttacaaccacacaatggaaAcccctgcctccttcctcctt	10	10	3	18	0	0	0	0	0	0	0	3	1	3	1	7	1	4	0	7	1	4	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:4615302A>T	ENST00000450052.2	+	2	106	c.106A>T	c.(106-108)Acc>Tcc	p.T36S	OR52I1_ENST00000530443.2_Missense_Mutation_p.T12S			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACAATGGAAACCCCTGCCTC	0.473													14	253					0	0	0	0	T	4615302	A	T	4615302	3	4	233	1	0	0	0	0	1	0	0	0	11191	43	2	5	36	5	OR52I1	11	4615302	Missense_Mutation	SNP	A	TCGA-CV-5442-01A-01D-1512-08		4615302	130391214	153	42676											
RBMXL2	27288	broad.mit.edu	37	chr11	7111451	7111451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtgattcttacagccGgtcaggctgcagggtgccca	7	8	13	13	2	2	1	1	1	1	0	2	1	2	1	3	3	5	2	3	3	1	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:7111451G>A	ENST00000306904.5	+	1	1287	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	367	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTTACAGCCGGTCAGGCTGC	0.652													7	18					0	0	0	0	A	7111451	G	A	7111451	3	1	233	1	0	0	0	0	1	0	0	0	13236	1116	39	1	1102	1	RBMXL2	11	7111451	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	2496149	7111451	127895065	154	42677											
KIF18A	81930	broad.mit.edu	37	chr11	28057782	28057782	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accgttgtaaaatgtctttgTtatcatttggtagtgattct	9	19	8	5	1	3	1	1	1	2	0	3	1	3	1	1	1	0	4	1	1	4	7			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:28057782T>C	ENST00000263181.6	-	14	2668	c.2378A>G	c.(2377-2379)aAc>aGc	p.N793S		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	793					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						AATGTCTTTGTTATCATTTGG	0.318													32	40					0	0	0	0	C	28057782	T	C	28057782	3	2	233	1	0	0	0	0	1	0	0	0	8331	1725	60	5	334	5	KIF18A	11	28057782	Missense_Mutation	SNP	T	TCGA-CV-5442-01A-01D-1512-08	20946331	28057782	106948734	155	42678											
OR4C3	256144	broad.mit.edu	37	chr11	48347158	48347158	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatacgtatgtcattggtctGctggtggttgccaacagtgg	8	13	13	7	1	2	0	1	0	1	0	2	0	2	0	1	4	4	3	1	4	4	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:48347158G>T	ENST00000319856.4	+	1	687	c.666G>T	c.(664-666)ctG>ctT	p.L222L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCATTGGTCTGCTGGTGGTTG	0.502													36	68					6.84511e-11	7.05638e-11	1	0	T	48347158	G	T	48347158	2	4	233	1	0	0	0	0	0	0	0	1	11121	1306	46	4		4	OR4C3	11	48347158	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	20289376	48347158	86659358	156	42679											
POLD3	10714	broad.mit.edu	37	chr11	74351802	74351802	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccattactggcttcttccaGaggaaataaactgccatctc	11	12	6	12	0	2	1	0	0	2	1	5	2	4	2	3	2	3	1	3	2	4	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:74351802G>C	ENST00000263681.2	+	12	1521	c.1392G>C	c.(1390-1392)caG>caC	p.Q464H	POLD3_ENST00000527458.1_Missense_Mutation_p.Q425H|POLD3_ENST00000532497.1_Missense_Mutation_p.Q358H	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	464					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GCTTCTTCCAGAGGAAATAAA	0.468													26	50					0	0	0	0	C	74351802	G	C	74351802	3	2	233	1	0	0	0	0	1	0	0	0	12264	933	33	2	1438	2	POLD3	11	74351802	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	26004644	74351802	60654714	157	42680											
FOLH1B	219595	broad.mit.edu	37	chr11	89409584	89409584	+	RNA	DEL	T	T	-																															tcttttctttcttttcttacTttttttttttctttgctttg																										TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:89409584delT	ENST00000532352.1	+	0	1261							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						cttttcttacttttttttttt	0.343													2	4	---	---	---	---					-	89409584	T	-	89409584	6	5	233	0	1	1	0	1	0	0	0	0	6025	1624	56	0		0	FOLH1B	11	89409584	RNA	DEL	T	TCGA-CV-5442-01A-01D-1512-08	15057782	89409584	45596932	158	42681											
TRPC6	7225	broad.mit.edu	37	chr11	101342884	101342884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacctcaatttcctggaatGaactgttgatcatggcaatt	12	14	7	8	0	2	2	2	2	0	0	3	3	3	3	2	2	2	2	2	2	5	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:101342884G>A	ENST00000344327.3	-	8	2613	c.2189C>T	c.(2188-2190)tCa>tTa	p.S730L	TRPC6_ENST00000532133.1_Missense_Mutation_p.S652L|TRPC6_ENST00000348423.4_Missense_Mutation_p.S614L|TRPC6_ENST00000360497.4_Missense_Mutation_p.S675L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	730					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTCCTGGAATGAACTGTTGAT	0.328													64	111					0	0	0	0	A	101342884	G	A	101342884	3	1	233	1	0	0	0	0	1	0	0	0	16678	1294	45	2	630	2	TRPC6	11	101342884	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	11933300	101342884	33663632	159	42682											
SPATA19	219938	broad.mit.edu	37	chr11	133712412	133712412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctctattcgatctcgcatGatgtcctctgtcatctcact	6	16	6	13	2	5	1	2	1	4	0	9	2	6	1	1	0	1	2	1	0	1	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:133712412G>C	ENST00000299140.3	-	5	459	c.405C>G	c.(403-405)atC>atG	p.I135M	SPATA19_ENST00000532889.1_Missense_Mutation_p.I135M	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	135					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GATCTCGCATGATGTCCTCTG	0.498													55	83					0	0	0	0	C	133712412	G	C	133712412	3	2	233	1	0	0	0	0	1	0	0	0	15094	1280	45	2	106	2	SPATA19	11	133712412	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	32369528	133712412	1294104	160	42683											
PRMT8	56341	broad.mit.edu	37	chr12	3662836	3662836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatcgaatgctccagtatttCtgactactcagagaagatca	13	11	8	9	1	3	3	2	1	1	2	5	6	4	3	1	0	2	2	1	0	4	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:3662836C>G	ENST00000382622.3	+	4	827	c.437C>G	c.(436-438)tCt>tGt	p.S146C	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S137C	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	146					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TCCAGTATTTCTGACTACTCA	0.473													44	73					0	0	0	0	G	3662836	C	G	3662836	3	3	233	1	0	0	0	0	1	0	0	0	12622	913	32	2	451	2	PRMT8	12	3662836	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08		3662836	130189059	161	42684											
NTF3	4908	broad.mit.edu	37	chr12	5603698	5603698	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactcaccgcgggtcctgctGagcgacagcacccccttgga	8	6	11	16	3	1	1	1	1	0	0	2	3	2	2	4	2	4	2	4	2	1	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:5603698G>A	ENST00000423158.3	+	2	569	c.357G>A	c.(355-357)ctG>ctA	p.L119L	NTF3_ENST00000331010.6_Silent_p.L106L|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	106					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGGTCCTGCTGAGCGACAGCA	0.627													14	76					0	0	0	0	A	5603698	G	A	5603698	2	1	233	1	0	0	0	0	0	0	0	1	10767	1277	45	2		2	NTF3	12	5603698	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	1940862	5603698	128248197	162	42685											
CLEC6A	93978	broad.mit.edu	37	chr12	8618142	8618142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgctacttcatttccagtGaagagaaggtttggtctaag	10	14	11	6	0	2	2	1	1	1	1	3	3	3	2	1	2	2	3	1	2	4	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:8618142G>A	ENST00000382073.3	+	4	472	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	96	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					CATTTCCAGTGAAGAGAAGGT	0.423													53	73					0	0	0	0	A	8618142	G	A	8618142	3	1	233	1	0	0	0	0	1	0	0	0	3550	1291	45	2	300	2	CLEC6A	12	8618142	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	3014444	8618142	125233753	163	42686											
STRAP	11171	broad.mit.edu	37	chr12	16052888	16052888	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtgtgagatttagtcctGatggagaactctatgccagt	10	13	11	7	0	1	3	0	2	1	2	2	5	2	3	2	1	2	0	2	1	3	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:16052888G>C	ENST00000419869.2	+	8	1139	c.826G>C	c.(826-828)Gat>Cat	p.D276H	STRAP_ENST00000025399.6_Missense_Mutation_p.D289H|STRAP_ENST00000538352.1_Missense_Mutation_p.D182H	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	276					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				ATTTAGTCCTGATGGAGAACT	0.393													45	76					0	0	0	0	C	16052888	G	C	16052888	3	2	233	1	0	0	0	0	1	0	0	0	15416	1290	45	2	856	2	STRAP	12	16052888	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	7434746	16052888	117799007	164	42687											
ARNTL2	56938	broad.mit.edu	37	chr12	27553552	27553552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaatggaagaagaaaggaaCagtaagaaagacaacagtaa	23	3	12	3	0	0	4	0	0	0	4	0	7	0	7	0	3	2	2	0	3	9	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:27553552C>A	ENST00000544915.1	+	9	1122	c.903C>A	c.(901-903)aaC>aaA	p.N301K	ARNTL2_ENST00000311001.5_Missense_Mutation_p.N321K|ARNTL2_ENST00000261178.5_Missense_Mutation_p.N287K|ARNTL2_ENST00000395901.2_Missense_Mutation_p.N298K|ARNTL2_ENST00000542388.1_Missense_Mutation_p.N250K|ARNTL2_ENST00000266503.5_Missense_Mutation_p.N335K|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000546179.1_Missense_Mutation_p.N298K	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	335					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AAGAAAGGAACAGTAAGAAAG	0.373													3	99					0.004672	0.00472863	1	0	A	27553552	C	A	27553552	3	1	233	1	0	0	0	0	1	0	0	0	972	477	17	4	1043	4	ARNTL2	12	27553552	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	11500664	27553552	106298343	165	42688											
CNTN1	1272	broad.mit.edu	37	chr12	41386958	41386958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaaatatggaggcagcaaGagcagtggacttaatcccat	15	7	12	7	0	0	1	0	0	0	1	1	4	1	4	1	4	2	3	1	4	4	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:41386958G>A	ENST00000551295.2	+	17	2117	c.2000G>A	c.(1999-2001)aGa>aAa	p.R667K	CNTN1_ENST00000347616.1_Missense_Mutation_p.R667K|CNTN1_ENST00000348761.2_Missense_Mutation_p.R656K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	667	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGGCAGCAAGAGCAGTGGAC	0.383													63	89					0	0	0	0	A	41386958	G	A	41386958	3	1	233	1	0	0	0	0	1	0	0	0	3670	942	33	2	2062	2	CNTN1	12	41386958	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	13833406	41386958	92464937	166	42689											
RAPGEF3	10411	broad.mit.edu	37	chr12	48137435	48137435	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggtcaacactgagtggTctggccggcagatgtcatag	9	8	15	9	1	3	2	2	1	1	1	3	2	3	2	1	4	1	2	1	4	2	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:48137435T>G	ENST00000405493.2	-	18	1786	c.1577A>C	c.(1576-1578)gAc>gCc	p.D526A	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.D568A|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.D526A|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.D568A|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.D526A	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	526					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CACTGAGTGGTCTGGCCGGCA	0.627													15	26					0	0	0	0	G	48137435	T	G	48137435	3	3	233	1	0	0	0	0	1	0	0	0	13127	1667	58	5	1112	5	RAPGEF3	12	48137435	Missense_Mutation	SNP	T	TCGA-CV-5442-01A-01D-1512-08	6750477	48137435	85714460	167	42690											
MFSD5	84975	broad.mit.edu	37	chr12	53647820	53647820	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctccatgacagtgatCgaaaaacaggcactcggaat	13	9	9	10	2	0	2	0	2	0	0	4	4	2	3	2	2	1	1	2	2	3	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:53647820C>A	ENST00000534842.1	+	2	1669	c.1522C>A	c.(1522-1524)Cga>Aga	p.R508R	MFSD5_ENST00000329548.4_Silent_p.R401R	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	401					transport	integral to membrane		p.R401*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TGACAGTGATCGAAAAACAGG	0.547													38	69					3.76114e-14	3.88922e-14	1	0	A	53647820	C	A	53647820	2	1	233	1	0	0	0	0	0	0	0	1	9603	876	31	3		3	MFSD5	12	53647820	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	5510385	53647820	80204075	168	42691											
ESPL1	9700	broad.mit.edu	37	chr12	53675381	53675381	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgacctgtgatctgcttCgaagtcaactctactggact	8	12	8	13	1	3	2	1	2	2	0	4	4	3	3	2	1	3	1	2	1	3	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:53675381C>T	ENST00000257934.4	+	13	2681	c.2590C>T	c.(2590-2592)Cga>Tga	p.R864*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.R864*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	864					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGATCTGCTTCGAAGTCAACT	0.453													64	100					0	0	0	0	T	53675381	C	T	53675381	4	4	233	1	0	0	0	0	0	1	0	0	5291	876	31	1	2636	1	ESPL1	12	53675381	Nonsense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	27561	53675381	80176514	169	42692											
NEUROD4	58158	broad.mit.edu	37	chr12	55420738	55420738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cacaagcaacctggtggctgGatgtctccaactgggccctc	8	8	11	14	0	1	0	0	0	1	0	3	1	1	1	3	4	3	2	3	4	3	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:55420738G>C	ENST00000242994.3	+	2	893	c.515G>C	c.(514-516)gGa>gCa	p.G172A		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	172					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CTGGTGGCTGGATGTCTCCAA	0.517													32	55					0	0	0	0	C	55420738	G	C	55420738	3	2	233	1	0	0	0	0	1	0	0	0	10420	1174	41	2	517	2	NEUROD4	12	55420738	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	1745357	55420738	78431157	170	42693											
SLC5A8	160728	broad.mit.edu	37	chr12	101587457	101587457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catttaaaatagtgctgattCcaccttgcatcaccacagcc	12	11	5	13	0	1	1	1	1	0	0	2	1	2	1	4	0	3	2	4	0	3	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:101587457C>T	ENST00000536262.2	-	5	1196	c.638G>A	c.(637-639)gGa>gAa	p.G213E		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	213					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTGCTGATTCCACCTTGCAT	0.398													73	89					0	0	0	0	T	101587457	C	T	101587457	3	4	233	1	0	0	0	0	1	0	0	0	14759	855	30	2	1238	2	SLC5A8	12	101587457	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	46166719	101587457	32264438	171	42694											
KDM2B	84678	broad.mit.edu	37	chr12	121880818	121880818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcctgaaaagcttatcttCtttgccaggtttgagctgtc	7	17	8	9	0	2	2	0	2	2	0	4	2	3	2	2	1	3	3	2	1	3	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:121880818C>T	ENST00000377069.4	-	17	2780	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	KDM2B_ENST00000542973.1_Missense_Mutation_p.E229K|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.E861K	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	861					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGCTTATCTTCTTTGCCAGGT	0.592													15	15					0	0	0	0	T	121880818	C	T	121880818	3	4	233	1	0	0	0	0	1	0	0	0	8178	922	32	2	1505	2	KDM2B	12	121880818	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	20293361	121880818	11971077	172	42695											
NCOR2	9612	broad.mit.edu	37	chr12	124934366	124934366	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgcgagcactcacattttGatgttctcatgatactgccg	8	12	8	13	3	2	2	2	2	1	0	3	3	2	2	2	0	3	2	2	0	1	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:124934366G>C	ENST00000356219.3	-	8	965	c.810C>G	c.(808-810)atC>atG	p.I270M	NCOR2_ENST00000405201.1_Missense_Mutation_p.I270M|NCOR2_ENST00000404121.2_De_novo_Start_InFrame|NCOR2_ENST00000397355.1_Missense_Mutation_p.I270M|NCOR2_ENST00000429285.2_Missense_Mutation_p.I270M|NCOR2_ENST00000404621.1_Missense_Mutation_p.I270M	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	270	Interaction with SIN3A/B (By similarity).				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCACATTTTGATGTTCTCAT	0.612													17	31					0	0	0	0	C	124934366	G	C	124934366	3	2	233	1	0	0	0	0	1	0	0	0	10306	1280	45	2	6922	2	NCOR2	12	124934366	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	3053548	124934366	8917529	173	42696											
NOC4L	79050	broad.mit.edu	37	chr12	132636125	132636125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctcatggtcctgcctttCatctgtaacctgctgcgccg	4	13	9	15	2	3	0	2	0	1	0	4	0	4	0	4	1	5	3	4	1	1	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:132636125C>T	ENST00000330579.1	+	12	1211	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	NOC4L_ENST00000538784.1_Silent_p.F5F|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	390					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TCCTGCCTTTCATCTGTAACC	0.721													12	8					0	0	0	0	T	132636125	C	T	132636125	2	4	233	1	0	0	0	0	0	0	0	1	10585	825	29	2		2	NOC4L	12	132636125	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	7701759	132636125	1215770	174	42697											
FLT1	2321	broad.mit.edu	37	chr13	29008329	29008329	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtcccagattatgcgttttCcatcagggatcaaagtgtca	10	13	9	9	1	3	1	3	0	0	1	5	2	5	2	2	1	1	1	2	1	2	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr13:29008329C>G	ENST00000282397.4	-	5	793	c.542G>C	c.(541-543)gGa>gCa	p.G181A	FLT1_ENST00000539099.1_Missense_Mutation_p.G181A|FLT1_ENST00000541932.1_Missense_Mutation_p.G181A	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	181	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TATGCGTTTTCCATCAGGGAT	0.428													19	76					0	0	0	0	G	29008329	C	G	29008329	3	3	233	1	0	0	0	0	1	0	0	0	5986	855	30	2	3841	2	FLT1	13	29008329	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08		29008329	86161549	175	42698											
TM9SF2	9375	broad.mit.edu	37	chr13	100192968	100192968	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gattttttaatctcctctagGaagatgataagatcagatgg	13	14	9	5	0	3	4	1	1	2	3	4	6	3	5	1	2	0	0	1	2	4	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr13:100192968G>C	ENST00000376387.4	+	8	1019	c.828_splice	c.e8-1	p.E277_splice		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	277					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TCTCCTCTAGGAAGATGATAA	0.388													46	69					0	0	0	0	C	100192968	G	C	100192968	5	2	233	1	0	0	0	0	0	0	1	0	16072	1188	41	2	859	2	TM9SF2	13	100192968	Splice_Site	SNP	G	TCGA-CV-5442-01A-01D-1512-08	71184639	100192968	14976910	176	42699											
IRS2	8660	broad.mit.edu	37	chr13	110438062	110438062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcgtccttggtgtagagggcGatcaggtacttgtgcttggc	5	13	15	8	2	1	1	1	0	0	1	3	2	2	1	1	4	2	3	1	4	2	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr13:110438062G>C	ENST00000375856.3	-	1	853	c.339C>G	c.(337-339)atC>atG	p.I113M		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	113	PH.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TGTAGAGGGCGATCAGGTACT	0.647													7	18					0	0	0	0	C	110438062	G	C	110438062	3	2	233	1	0	0	0	0	1	0	0	0	7894	1048	37	3	3685	3	IRS2	13	110438062	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	10245094	110438062	4731816	177	42700											
COL4A1	1282	broad.mit.edu	37	chr13	110838797	110838797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtcaccaatgggaccaGcaggaccatatcctggaggc	10	8	11	12	0	1	0	1	0	0	0	2	3	2	3	4	4	1	1	4	4	2	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr13:110838797G>A	ENST00000375820.4	-	26	1953	c.1832C>T	c.(1831-1833)gCt>gTt	p.A611V		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	611	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AATGGGACCAGCAGGACCATA	0.607													69	75					0	0	0	0	A	110838797	G	A	110838797	3	1	233	1	0	0	0	0	1	0	0	0	3719	971	34	4	3285	4	COL4A1	13	110838797	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	400735	110838797	4331081	178	42701											
TEP1	7011	broad.mit.edu	37	chr14	20856088	20856088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgggaaacaggagccaagGggcttggagtgtcctcttcc	8	8	15	10	0	1	0	0	0	1	0	3	3	3	3	3	5	2	2	3	5	2	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:20856088G>T	ENST00000262715.5	-	18	2700	c.2660C>A	c.(2659-2661)cCc>cAc	p.P887H	TEP1_ENST00000556935.1_Missense_Mutation_p.P779H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	887					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGAGCCAAGGGGCTTGGAGT	0.532													32	71					4.92203e-23	5.15347e-23	1	0	T	20856088	G	T	20856088	3	4	233	1	0	0	0	0	1	0	0	0	15853	1232	43	4	5375	4	TEP1	14	20856088	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08		20856088	86493452	179	42702											
SUPT16H	11198	broad.mit.edu	37	chr14	21829239	21829239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcctgtgttcaggctcacctCcttctctttctcttcagctt	3	17	6	15	0	5	0	3	0	2	0	8	0	6	0	3	1	1	3	3	1	0	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:21829239C>T	ENST00000216297.2	-	16	2265	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	643					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGGCTCACCTCCTTCTCTTTC	0.368													60	120					0	0	0	0	T	21829239	C	T	21829239	3	4	233	1	0	0	0	0	1	0	0	0	15486	864	30	2	1260	2	SUPT16H	14	21829239	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	973151	21829239	85520301	180	42703											
TM9SF1	10548	broad.mit.edu	37	chr14	24663958	24663958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggatctcatacaaagactCagccattcggtccccatcca	11	8	7	15	2	2	1	2	0	1	1	6	2	4	2	4	2	2	0	4	2	2	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:24663958C>T	ENST00000556387.1	-	6	928	c.895G>A	c.(895-897)Gag>Aag	p.E299K	TM9SF1_ENST00000396854.4_Missense_Mutation_p.E90K|TM9SF1_ENST00000524835.1_Missense_Mutation_p.E3K|TM9SF1_ENST00000261789.4_Missense_Mutation_p.E90K|TM9SF1_ENST00000528669.1_Missense_Mutation_p.E90K|TM9SF1_ENST00000530611.1_Missense_Mutation_p.E299K			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	90					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TACAAAGACTCAGCCATTCGG	0.507													174	297					0	0	0	0	T	24663958	C	T	24663958	3	4	233	1	0	0	0	0	1	0	0	0	16071	835	29	2	1615	2	TM9SF1	14	24663958	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	2834719	24663958	82685582	181	42704											
TINF2	26277	broad.mit.edu	37	chr14	24710319	24710319	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catccaactcagcacatcctGaagctgtgggcagggacaga	12	6	11	12	0	1	2	1	1	0	1	3	3	3	3	2	2	3	3	2	2	2	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:24710319G>A	ENST00000399423.4	-	5	841	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	TINF2_ENST00000559019.1_Intron|TINF2_ENST00000267415.7_Nonsense_Mutation_p.Q171*|TINF2_ENST00000540705.1_Nonsense_Mutation_p.Q136*|TINF2_ENST00000558566.1_Intron|TINF2_ENST00000538777.1_Intron	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	171					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		AGCACATCCTGAAGCTGTGGG	0.542									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				116	137					0	0	0	0	A	24710319	G	A	24710319	4	1	233	1	0	0	0	0	0	1	0	0	16017	1299	45	2	868	2	TINF2	14	24710319	Nonsense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	46361	24710319	82639221	182	42705											
PRKD1	5587	broad.mit.edu	37	chr14	30098292	30098292	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatactgaaatactcacagaGatatctcctggaaatgcatg	15	10	8	8	0	2	2	1	1	1	1	3	5	2	3	1	1	3	1	1	1	5	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:30098292G>C	ENST00000331968.5	-	11	1909	c.1680C>G	c.(1678-1680)atC>atG	p.I560M	PRKD1_ENST00000415220.2_Missense_Mutation_p.I568M	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	560					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TACTCACAGAGATATCTCCTG	0.313													29	37					0	0	0	0	C	30098292	G	C	30098292	3	2	233	1	0	0	0	0	1	0	0	0	12598	932	33	2	1090	2	PRKD1	14	30098292	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	5387973	30098292	77251248	183	42706											
HECTD1	25831	broad.mit.edu	37	chr14	31614087	31614087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtgttaccactactccacGaggcatgctttcaacagctt	10	11	8	12	1	1	0	1	0	0	0	2	2	2	0	2	1	5	4	2	1	3	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:31614087G>A	ENST00000399332.1	-	16	3045	c.2557C>T	c.(2557-2559)Cgt>Tgt	p.R853C	HECTD1_ENST00000553700.1_Missense_Mutation_p.R853C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	853					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACTACTCCACGAGGCATGCTT	0.353													23	28					0	0	0	0	A	31614087	G	A	31614087	3	1	233	1	0	0	0	0	1	0	0	0	7089	1058	37	1	5387	1	HECTD1	14	31614087	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	1515795	31614087	75735453	184	42707											
SSTR1	6751	broad.mit.edu	37	chr14	38678915	38678915	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccattgctgatgagctgctCatgctcagcgtgcccttcct	5	12	10	14	1	2	2	2	2	0	0	3	2	3	2	3	0	6	4	3	0	0	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:38678915C>T	ENST00000267377.2	+	3	938	c.321C>T	c.(319-321)ctC>ctT	p.L107L		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	107					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	ATGAGCTGCTCATGCTCAGCG	0.577													90	163					0	0	0	0	T	38678915	C	T	38678915	2	4	233	1	0	0	0	0	0	0	0	1	15287	813	29	2		2	SSTR1	14	38678915	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	7064828	38678915	68670625	185	42708											
NRXN3	9369	broad.mit.edu	37	chr14	79423682	79423682	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaagccttaagttaacCgtggatgatgatgtggctga	13	10	13	5	1	0	3	0	3	0	0	0	5	0	5	2	3	2	2	2	3	4	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:79423682C>T	ENST00000554719.1	+	8	1745	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	NRXN3_ENST00000335750.5_Silent_p.T418T	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	188					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)		TTAAGTTAACCGTGGATGATG	0.493													24	67					0	0	0	0	T	79423682	C	T	79423682	2	4	233	1	0	0	0	0	0	0	0	1	10738	639	23	1		1	NRXN3	14	79423682	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	40744767	79423682	27925858	186	42709											
SLC24A4	123041	broad.mit.edu	37	chr14	92949145	92949145	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggtcaccttcatcacCgccacgctgtggatcgctgt	6	12	9	14	3	4	0	4	0	0	0	5	1	4	1	3	2	0	2	3	2	0	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:92949145C>T	ENST00000532405.1	+	13	1603	c.1377C>T	c.(1375-1377)acC>acT	p.T459T	SLC24A4_ENST00000351924.5_Silent_p.T423T|SLC24A4_ENST00000393265.2_Silent_p.T395T|SLC24A4_ENST00000298877.1_Silent_p.T442T|SLC24A4_ENST00000531433.1_Silent_p.T440T			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	459						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCTTCATCACCGCCACGCTGT	0.602													24	21					0	0	0	0	T	92949145	C	T	92949145	2	4	233	1	0	0	0	0	0	0	0	1	14556	639	23	1		1	SLC24A4	14	92949145	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	13525463	92949145	14400395	187	42710											
CYP46A1	10858	broad.mit.edu	37	chr14	100192929	100192929	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcatggcaaagctgctgcaGaggctggagttccggctggt	7	9	16	9	1	1	1	1	0	0	1	2	2	2	2	1	5	3	7	1	5	1	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:100192929G>A	ENST00000554176.1	+	10	1545	c.879G>A	c.(877-879)caG>caA	p.Q293Q	CYP46A1_ENST00000423126.2_Silent_p.Q359Q|CYP46A1_ENST00000261835.3_Silent_p.Q456Q			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	456					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				AGCTGCTGCAGAGGCTGGAGT	0.627													3	1					0	0	0	0	A	100192929	G	A	100192929	2	1	233	1	0	0	0	0	0	0	0	1	4214	933	33	2		2	CYP46A1	14	100192929	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	7243784	100192929	7156611	188	42711											
JAG2	3714	broad.mit.edu	37	chr14	105609968	105609968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaggtccctggcagggCtgaaggactgcggcaaagaa	11	4	16	10	1	0	2	0	1	0	1	1	3	1	3	1	6	1	4	1	6	3	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:105609968C>T	ENST00000331782.3	-	25	3495	c.3092G>A	c.(3091-3093)aGc>aAc	p.S1031N	JAG2_ENST00000347004.2_Missense_Mutation_p.S993N	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1031					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCTGGCAGGGCTGAAGGACTG	0.682													6	5					0	0	0	0	T	105609968	C	T	105609968	3	4	233	1	0	0	0	0	1	0	0	0	7988	797	28	4	632	4	JAG2	14	105609968	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	5417039	105609968	1739572	189	42712											
PLA2G4E	123745	broad.mit.edu	37	chr15	42285087	42285087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctttaccacatgtctccGagcctcaaagatagcaggct	10	10	8	13	1	2	1	1	0	1	1	4	2	3	1	4	1	3	2	4	1	3	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:42285087G>A	ENST00000399518.3	-	13	1804	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R411W	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	428	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		ACATGTCTCCGAGCCTCAAAG	0.572													12	17					0	0	0	0	A	42285087	G	A	42285087	3	1	233	1	0	0	0	0	1	0	0	0	12077	1057	37	1	1320	1	PLA2G4E	15	42285087	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08		42285087	60246305	190	42713											
TLN2	83660	broad.mit.edu	37	chr15	63125727	63125727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggatgagaccctggactttGaggaacagatcttggaagct	11	9	13	8	1	1	3	0	2	1	2	1	8	1	7	1	4	2	1	1	4	2	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:63125727G>C	ENST00000561311.1	+	54	7257	c.7027G>C	c.(7027-7029)Gag>Cag	p.E2343Q	RP11-1069G10.1_ENST00000558888.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.E2343Q			Q9Y4G6	TLN2_HUMAN	talin 2	2343	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCTGGACTTTGAGGAACAGAT	0.498													28	111					0	0	0	0	C	63125727	G	C	63125727	3	2	233	1	0	0	0	0	1	0	0	0	16042	1291	45	2	7233	2	TLN2	15	63125727	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	20840640	63125727	39405665	191	42714											
MPI	4351	broad.mit.edu	37	chr15	75188726	75188726	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgggccctgtttccctatCtggacaaaggaaggagaagg	10	8	14	9	0	1	1	0	0	1	1	2	4	2	3	2	5	0	2	2	5	4	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:75188726C>T	ENST00000563422.1	+	6	936	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	MPI_ENST00000352410.4_Intron|MPI_ENST00000323744.6_Intron|MPI_ENST00000562606.1_Silent_p.L282L|MPI_ENST00000566377.1_Intron|MPI_ENST00000564003.1_Silent_p.L191L|MPI_ENST00000563786.1_Intron|MPI_ENST00000535694.1_Intron			P34949	MPI_HUMAN	mannose phosphate isomerase	0					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						gtttccctatctggacaaagg	0.582													4	12					0	0	0	0	T	75188726	C	T	75188726	2	4	233	1	0	0	0	0	0	0	0	1	9799	928	32	2		2	MPI	15	75188726	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	12062999	75188726	27342666	192	42715											
SYNM	23336	broad.mit.edu	37	chr15	99670618	99670618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaaaggaaaacaaagactGaaatagttgtggagtctaaa	19	7	12	3	0	1	2	0	1	1	1	1	5	1	5	0	3	1	1	0	3	8	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:99670618G>A	ENST00000336292.6	+	5	2170	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.E399K|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.E684K	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	685	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AACAAAGACTGAAATAGTTGT	0.443													17	20					0	0	0	0	A	99670618	G	A	99670618	3	1	233	1	0	0	0	0	1	0	0	0	15546	1291	45	2	2066	2	SYNM	15	99670618	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	24481892	99670618	2860774	193	42716											
ZNF213	7760	broad.mit.edu	37	chr16	3190831	3190831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgagaaccggccgagggCggccctgggcccagtggtgg	6	3	20	12	4	0	1	0	0	0	1	0	4	0	1	4	6	2	0	4	6	1	0	rs113065910		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:3190831C>T	ENST00000396878.3	+	6	1338	c.863C>T	c.(862-864)gCg>gTg	p.A288V	ZNF213_ENST00000576416.1_Missense_Mutation_p.A288V|ZNF213_ENST00000416391.2_Missense_Mutation_p.A130V|ZNF213_ENST00000574902.1_Missense_Mutation_p.A288V	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	288	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CGGCCGAGGGCGGCCCTGGGC	0.746													12	11					0	0	0	0	T	3190831	C	T	3190831	3	4	233	1	0	0	0	0	1	0	0	0	17864	768	27	1	881	1	ZNF213	16	3190831	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08		3190831	87163922	194	42717											
GGA2	23062	broad.mit.edu	37	chr16	23491207	23491207	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcctgctggattctgaaaGactagaaagcccagggttag	12	8	12	9	0	1	3	0	1	1	2	1	4	1	4	2	2	3	2	2	2	4	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:23491207G>C	ENST00000309859.4	-	11	1090	c.1006_splice	c.e11-1	p.V336_splice	GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	336	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GATTCTGAAAGACTAGAAAGC	0.502													15	22					0	0	0	0	C	23491207	G	C	23491207	5	2	233	1	0	0	0	0	0	0	1	0	6404	956	33	2	861	2	GGA2	16	23491207	Splice_Site	SNP	G	TCGA-CV-5442-01A-01D-1512-08	20300376	23491207	66863546	195	42718											
COG4	25839	broad.mit.edu	37	chr16	70543161	70543161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagtccctttgcttgatGaacttgtctaccaccttctc	6	16	7	12	0	2	2	0	2	2	0	4	2	3	2	3	1	3	2	3	1	3	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:70543161G>T	ENST00000323786.5	-	7	996	c.975C>A	c.(973-975)ttC>ttA	p.F325L	COG4_ENST00000393612.4_Missense_Mutation_p.F321L	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	321					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TTTGCTTGATGAACTTGTCTA	0.483													45	77					8.20599e-20	8.565e-20	1	0	T	70543161	G	T	70543161	3	4	233	1	0	0	0	0	1	0	0	0	3690	1281	45	2	1446	2	COG4	16	70543161	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	47051954	70543161	19811592	196	42719											
AP1G1	164	broad.mit.edu	37	chr16	71798596	71798596	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgaatcatcatcatttcGtcctaaaattcttaataacc	14	15	2	10	1	4	1	3	1	1	0	6	1	5	1	2	0	1	0	2	0	5	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:71798596G>A	ENST00000299980.4	-	8	1213	c.772C>T	c.(772-774)Cga>Tga	p.R258*	AP1G1_ENST00000393512.3_Nonsense_Mutation_p.R261*|AP1G1_ENST00000433195.2_Nonsense_Mutation_p.R281*|AP1G1_ENST00000423132.2_Nonsense_Mutation_p.R261*|AP1G1_ENST00000569748.1_Nonsense_Mutation_p.R258*	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	258					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	p.R258*(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TCATCATTTCGTCCTAAAATT	0.328													17	38					0	0	0	0	A	71798596	G	A	71798596	4	1	233	1	0	0	0	0	0	1	0	0	733	1153	40	1	1760	1	AP1G1	16	71798596	Nonsense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	1255435	71798596	18556157	197	42720											
NLGN2	57555	broad.mit.edu	37	chr17	7320306	7320306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaccaagcccaatcgcttcGaggaggtggtgtggagcaaa	12	6	13	10	2	0	0	0	0	0	0	2	3	0	2	2	4	2	2	2	4	3	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:7320306G>A	ENST00000302926.2	+	7	1769	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	NLGN2_ENST00000575301.1_Missense_Mutation_p.E566K	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	566					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CAATCGCTTCGAGGAGGTGGT	0.597													24	21					0	0	0	0	A	7320306	G	A	7320306	3	1	233	1	0	0	0	0	1	0	0	0	10532	1059	37	1	1722	1	NLGN2	17	7320306	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08		7320306	73874904	198	42721											
MYH10	4628	broad.mit.edu	37	chr17	8411946	8411946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccttttcttcctcttcaGccagctgagaggaacactca	8	12	7	14	1	4	1	2	1	2	1	6	3	5	2	3	1	3	1	3	1	1	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:8411946G>T	ENST00000360416.3	-	26	3278	c.3140C>A	c.(3139-3141)gCt>gAt	p.A1047D	MYH10_ENST00000379980.4_Missense_Mutation_p.A1032D|MYH10_ENST00000269243.4_Missense_Mutation_p.A1016D|MYH10_ENST00000396239.1_Missense_Mutation_p.A1037D	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1016					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCCTCTTCAGCCAGCTGAGA	0.413													80	119					5.41795e-27	5.72657e-27	1	0	T	8411946	G	T	8411946	3	4	233	1	0	0	0	0	1	0	0	0	10100	971	34	4	2955	4	MYH10	17	8411946	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	1091640	8411946	72783264	199	42722											
WDR16	146845	broad.mit.edu	37	chr17	9532073	9532073	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagggagctgctgcggatCaccgtgcccaacatgacctg	10	6	12	13	2	1	1	1	1	0	0	1	3	1	3	3	2	6	2	3	2	2	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:9532073C>T	ENST00000352665.5	+	9	1179	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	WDR16_ENST00000299764.5_Silent_p.I380I|WDR16_ENST00000396219.3_Silent_p.I302I	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	370						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TGCTGCGGATCACCGTGCCCA	0.542													27	40					0	0	0	0	T	9532073	C	T	9532073	2	4	233	1	0	0	0	0	0	0	0	1	17372	816	29	2		2	WDR16	17	9532073	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	1120127	9532073	71663137	200	42723											
TMIGD1	388364	broad.mit.edu	37	chr17	28644217	28644217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctagagtacttacagagctGtttcactgtgagggtcttta	9	14	10	8	0	2	3	1	1	1	2	2	3	2	3	1	1	3	3	1	1	4	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:28644217G>C	ENST00000328886.4	-	6	851	c.779C>G	c.(778-780)aCa>aGa	p.T260R	TMIGD1_ENST00000538566.2_3'UTR	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	260						integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TTACAGAGCTGTTTCACTGTG	0.423													31	75					0	0	0	0	C	28644217	G	C	28644217	3	2	233	1	0	0	0	0	1	0	0	0	16324	1377	48	4	17	4	TMIGD1	17	28644217	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	19112144	28644217	52550993	201	42724											
KRT38	8687	broad.mit.edu	37	chr17	39594463	39594463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccaggtcggcccggatctCagacagctgctcctccacgt	6	8	10	17	3	1	1	1	0	1	1	6	2	4	2	4	3	2	2	4	3	0	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:39594463C>T	ENST00000246646.3	-	6	1122	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	375	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCCCGGATCTCAGACAGCTGC	0.612													25	40					0	0	0	0	T	39594463	C	T	39594463	3	4	233	1	0	0	0	0	1	0	0	0	8527	835	29	2	255	2	KRT38	17	39594463	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	10950246	39594463	41600747	202	42725											
KRT19	3880	broad.mit.edu	37	chr17	39680030	39680030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagacaaattgttgtagtGatcttcctgtccctcgagca	9	12	10	10	1	1	2	0	1	1	1	4	3	3	2	2	1	1	4	2	1	2	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:39680030G>A	ENST00000361566.3	-	6	1228	c.1168C>T	c.(1168-1170)Cac>Tac	p.H390Y		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TTGTTGTAGTGATCTTCCTGT	0.582													16	45					0	0	0	0	A	39680030	G	A	39680030	3	1	233	1	0	0	0	0	1	0	0	0	8508	1290	45	2	38	2	KRT19	17	39680030	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	85567	39680030	41515180	203	42726											
EFTUD2	9343	broad.mit.edu	37	chr17	42934459	42934459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacttcttattaggcgtttCagcaaagcacttgagggagg	10	13	11	7	1	2	1	1	1	1	0	2	2	2	2	0	3	3	3	0	3	4	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:42934459C>T	ENST00000426333.2	-	20	2326	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	EFTUD2_ENST00000591382.1_Missense_Mutation_p.E677K|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E642K|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E667K	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	677						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTAGGCGTTTCAGCAAAGCAC	0.507													33	46					0	0	0	0	T	42934459	C	T	42934459	3	4	233	1	0	0	0	0	1	0	0	0	4997	835	29	2	925	2	EFTUD2	17	42934459	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	3254429	42934459	38260751	204	42727											
FAM117A	81558	broad.mit.edu	37	chr17	47797228	47797228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctgagtcgcaagacagggGaccctgaggggaagctggga	10	4	19	8	1	0	3	0	2	0	1	1	6	0	6	1	6	1	3	1	6	2	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:47797228G>A	ENST00000240364.2	-	5	681	c.602C>T	c.(601-603)tCc>tTc	p.S201F	FAM117A_ENST00000513602.1_5'UTR|RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	201										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CAAGACAGGGGACCCTGAGGG	0.587													18	27					0	0	0	0	A	47797228	G	A	47797228	3	1	233	1	0	0	0	0	1	0	0	0	5450	1174	41	2	775	2	FAM117A	17	47797228	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	4862769	47797228	33397982	205	42728											
KIF19	124602	broad.mit.edu	37	chr17	72349698	72349698	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagcagtgagaacctgtcGgagatccccttgtcccacaa	11	7	10	13	1	0	2	0	1	0	2	3	5	2	2	4	1	2	1	4	1	2	1	rs146555239	by1000genomes	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:72349698G>A	ENST00000389916.4	+	17	2424	c.2286G>A	c.(2284-2286)tcG>tcA	p.S762S		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	762					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAACCTGTCGGAGATCCCCT	0.592													13	27					0	0	0	0	A	72349698	G	A	72349698	2	1	233	1	0	0	0	0	0	0	0	1	8333	1103	39	1		1	KIF19	17	72349698	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	24552470	72349698	8845512	206	42729											
RNF213	57674	broad.mit.edu	37	chr17	78320969	78320969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaaacggtgtgtaagcGccaggacaaggaattcttcg	12	8	12	9	4	1	0	0	0	1	0	2	3	1	2	1	3	3	1	1	3	5	4	rs76918558		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:78320969G>A	ENST00000582970.1	+	29	8977	c.8834G>A	c.(8833-8835)cGc>cAc	p.R2945H	RNF213_ENST00000508628.2_Missense_Mutation_p.R2994H|RNF213_ENST00000336301.6_Missense_Mutation_p.R1018H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGTGTAAGCGCCAGGACAAG	0.532													6	17					0	0	0	0	A	78320969	G	A	78320969	3	1	233	1	0	0	0	0	1	0	0	0	13562	1087	38	1	9263	1	RNF213	17	78320969	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	5971271	78320969	2874241	207	42730											
LAMA3	3909	broad.mit.edu	37	chr18	21402267	21402267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcaagtggctccttgtttCgtgttattctgagatacgtt	7	17	10	7	2	2	1	1	1	1	1	4	2	3	1	1	1	1	4	1	1	3	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:21402267C>T	ENST00000313654.9	+	20	2597	c.2356C>T	c.(2356-2358)Cgt>Tgt	p.R786C	LAMA3_ENST00000399516.3_Missense_Mutation_p.R786C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	786					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCTTGTTTCGTGTTATTCT	0.383													33	59					0	0	0	0	T	21402267	C	T	21402267	3	4	233	1	0	0	0	0	1	0	0	0	8660	884	31	1	2434	1	LAMA3	18	21402267	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08		21402267	56674981	208	42731											
ASXL3	80816	broad.mit.edu	37	chr18	31325316	31325316	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagagagtagctaggactgTaggagaacacactcaagtta	17	7	11	6	0	1	2	1	0	0	2	1	5	1	3	0	2	2	4	0	2	7	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:31325316T>C	ENST00000269197.5	+	12	5504	c.5504T>C	c.(5503-5505)gTa>gCa	p.V1835A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCTAGGACTGTAGGAGAACAC	0.478													8	272					0	0	0	0	C	31325316	T	C	31325316	3	2	233	1	0	0	0	0	1	0	0	0	1072	1638	57	5	5550	5	ASXL3	18	31325316	Missense_Mutation	SNP	T	TCGA-CV-5442-01A-01D-1512-08	9923049	31325316	46751932	209	42732											
CXXC1	30827	broad.mit.edu	37	chr18	47812521	47812521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggatcagggacaggcctCttgcgccctccaccctcatc	6	9	9	17	1	4	0	2	0	2	0	6	2	5	2	4	3	1	0	4	3	0	1	rs149686544	by1000genomes	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:47812521C>T	ENST00000285106.6	-	4	1044	c.330G>A	c.(328-330)aaG>aaA	p.K110K	CXXC1_ENST00000589940.1_Silent_p.K110K|CXXC1_ENST00000412036.2_Silent_p.K110K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	110					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GGACAGGCCTCTTGCGCCCTC	0.647													57	87					0	0	0	0	T	47812521	C	T	47812521	2	4	233	1	0	0	0	0	0	0	0	1	4129	912	32	2		2	CXXC1	18	47812521	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	16487205	47812521	30264727	210	42733											
MRO	83876	broad.mit.edu	37	chr18	48331680	48331680	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agtccatacaccagcaggtcGaggacaattttcttatactt	12	12	7	10	1	1	0	0	0	1	0	3	2	2	1	2	2	3	1	2	2	4	6			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:48331680G>C	ENST00000428869.2	-	6	531	c.273C>G	c.(271-273)ctC>ctG	p.L91L	MRO_ENST00000436348.2_Silent_p.L105L|MRO_ENST00000398439.3_Silent_p.L91L|MRO_ENST00000588444.1_Silent_p.L91L|MRO_ENST00000431965.2_Silent_p.L105L|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000256425.2_Silent_p.L91L			Q9BYG7	MSTRO_HUMAN	maestro	91						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CCAGCAGGTCGAGGACAATTT	0.463													39	54					0	0	0	0	C	48331680	G	C	48331680	2	2	233	1	0	0	0	0	0	0	0	1	9842	1045	37	3		3	MRO	18	48331680	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	519159	48331680	29745568	211	42734											
CDH20	28316	broad.mit.edu	37	chr18	59221574	59221574	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcgacatcgcggccatgtgGaacccccgggaggcgcaggc	7	5	15	14	5	0	0	0	0	0	0	2	3	0	2	3	5	1	1	3	5	1	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:59221574G>C	ENST00000262717.4	+	12	2450	c.2052G>C	c.(2050-2052)tgG>tgC	p.W684C	CDH20_ENST00000536675.2_Missense_Mutation_p.W684C|CDH20_ENST00000538374.1_Missense_Mutation_p.W684C			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	684					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CGGCCATGTGGAACCCCCGGG	0.682													38	63					0	0	0	0	C	59221574	G	C	59221574	3	2	233	1	0	0	0	0	1	0	0	0	3135	1183	41	2	2094	2	CDH20	18	59221574	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	10889894	59221574	18855674	212	42735											
ZNF407	55628	broad.mit.edu	37	chr18	72346054	72346054	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcactgtgagtttagtgctCactcctctgcttctctagag	6	15	9	11	0	3	2	1	1	2	1	5	2	4	2	1	0	3	4	1	0	2	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:72346054C>G	ENST00000299687.5	+	1	3079	c.3079C>G	c.(3079-3081)Cac>Gac	p.H1027D	ZNF407_ENST00000309902.6_Missense_Mutation_p.H1027D|ZNF407_ENST00000577538.1_Missense_Mutation_p.H1027D|ZNF407_ENST00000582337.1_Missense_Mutation_p.H1027D	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1027					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GTTTAGTGCTCACTCCTCTGC	0.488													59	92					0	0	0	0	G	72346054	C	G	72346054	3	3	233	1	0	0	0	0	1	0	0	0	17982	826	29	2	3081	2	ZNF407	18	72346054	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	13124480	72346054	5731194	213	42736											
SF3A2	8175	broad.mit.edu	37	chr19	2247868	2247868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccacccccgctgatgaacGgtctgccccctcggccaccg	5	6	9	21	4	1	2	0	2	1	0	3	2	2	2	7	2	2	1	7	2	1	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:2247868G>A	ENST00000221494.4	+	9	1136	c.718G>A	c.(718-720)Ggt>Agt	p.G240S		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	240	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		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)		GCTGATGAACGGTCTGCCCCC	0.706													10	40					0	0	0	0	A	2247868	G	A	2247868	3	1	233	1	0	0	0	0	1	0	0	0	14234	1116	39	1	748	1	SF3A2	19	2247868	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08		2247868	56881115	214	42737											
VAV1	7409	broad.mit.edu	37	chr19	6828659	6828659	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcagtgcgtgaacgaggtCaagcgagacaacgagacact	13	5	13	10	4	2	3	2	1	0	2	2	6	2	3	0	1	4	1	0	1	3	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:6828659C>G	ENST00000304076.2	+	12	1213	c.1119C>G	c.(1117-1119)gtC>gtG	p.V373V	VAV1_ENST00000602142.1_Silent_p.V373V|VAV1_ENST00000599806.1_Silent_p.V318V|VAV1_ENST00000596764.1_Silent_p.V341V|VAV1_ENST00000539284.1_Silent_p.V276V	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	373	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGAACGAGGTCAAGCGAGACA	0.637													35	306					0	0	0	0	G	6828659	C	G	6828659	2	3	233	1	0	0	0	0	0	0	0	1	17227	813	29	2		2	VAV1	19	6828659	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	4580791	6828659	52300324	215	42738											
TIMM44	10469	broad.mit.edu	37	chr19	7998423	7998423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccactgctggtaccacttgGagtccttgtgcagcacgacc	7	10	10	14	1	0	0	0	0	0	0	2	2	2	1	4	2	4	4	4	2	1	3	rs41539862		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:7998423G>A	ENST00000270538.3	-	7	984	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	239					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GTACCACTTGGAGTCCTTGTG	0.647													134	373					0	0	0	0	A	7998423	G	A	7998423	3	1	233	1	0	0	0	0	1	0	0	0	16006	1174	41	2	670	2	TIMM44	19	7998423	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	1169764	7998423	51130560	216	42739											
MYO1F	4542	broad.mit.edu	37	chr19	8606807	8606807	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgctcactggtctgcatCagctctatgaggtcggagaa	9	10	11	11	1	4	2	2	1	2	1	5	3	4	2	0	3	3	3	0	3	2	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:8606807C>G	ENST00000338257.8	-	15	1860	c.1593G>C	c.(1591-1593)ctG>ctC	p.L531L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	531	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGGTCTGCATCAGCTCTATGA	0.622													27	78					0	0	0	0	G	8606807	C	G	8606807	2	3	233	1	0	0	0	0	0	0	0	1	10143	813	29	2		2	MYO1F	19	8606807	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	608384	8606807	50522176	217	42740											
OR1M1	125963	broad.mit.edu	37	chr19	9204176	9204176	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaagatgctggtgagccttCaaaccgggagcaaggccatc	11	7	12	11	1	1	2	1	1	0	1	2	3	1	3	3	3	4	2	3	3	3	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:9204176C>T	ENST00000429566.3	+	1	322	c.256C>T	c.(256-258)Caa>Taa	p.Q86*		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGTGAGCCTTCAAACCGGGAG	0.537													34	214					0	0	0	0	T	9204176	C	T	9204176	4	4	233	1	0	0	0	0	0	1	0	0	11039	827	29	2	258	2	OR1M1	19	9204176	Nonsense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	597369	9204176	49924807	218	42741											
ACP5	54	broad.mit.edu	37	chr19	11687634	11687634	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactttgcgaagggagcggtCagagaatacgtcctcaaagg	12	7	13	9	3	2	1	2	0	0	1	3	4	3	2	1	3	3	0	1	3	4	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:11687634C>G	ENST00000592828.1	-	5	688	c.286G>C	c.(286-288)Gac>Cac	p.D96H	ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.D96H|ACP5_ENST00000218758.5_Missense_Mutation_p.D96H|ACP5_ENST00000412435.2_Missense_Mutation_p.D96H	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	96					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AGGGAGCGGTCAGAGAATACG	0.547													36	108					0	0	0	0	G	11687634	C	G	11687634	3	3	233	1	0	0	0	0	1	0	0	0	164	826	29	2	703	2	ACP5	19	11687634	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	2483458	11687634	47441349	219	42742											
ZNF700	90592	broad.mit.edu	37	chr19	12060798	12060798	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctatgaatgtaaggaatgCgaaaaagcattctgtaaatt	16	11	8	6	1	1	1	0	1	1	0	1	3	1	2	1	1	2	3	1	1	8	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:12060798C>A	ENST00000482090.1	+	3	2323	c.1905C>A	c.(1903-1905)tgC>tgA	p.C635*	ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Nonsense_Mutation_p.C653*|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GTAAGGAATGCGAAAAAGCAT	0.408													3	83					1	1	1	0	A	12060798	C	A	12060798	4	1	233	1	0	0	0	0	0	1	0	0	18199	776	27	3	1973	3	ZNF700	19	12060798	Nonsense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	373164	12060798	47068185	220	42743											
CC2D1A	54862	broad.mit.edu	37	chr19	14040932	14040932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcagctgcagttctacacgGaggctgcccggcgcctgggc	5	6	16	14	3	1	0	0	0	1	0	1	1	1	1	2	5	4	5	2	5	1	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:14040932G>A	ENST00000318003.7	+	27	2993	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K	CC2D1A_ENST00000589606.1_Missense_Mutation_p.E917K	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	918					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GTTCTACACGGAGGCTGCCCG	0.687													8	21					0	0	0	0	A	14040932	G	A	14040932	3	1	233	1	0	0	0	0	1	0	0	0	2751	1175	41	2	2858	2	CC2D1A	19	14040932	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	1980134	14040932	45088051	221	42744											
MAST3	23031	broad.mit.edu	37	chr19	18252811	18252811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggactatggccgccggctGagtgctgacatccggtaagt	7	9	15	10	3	0	2	0	2	0	0	1	3	1	3	3	4	1	3	3	4	2	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:18252811G>A	ENST00000262811.5	+	20	2238	c.2238G>A	c.(2236-2238)ctG>ctA	p.L746L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	746							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCGCCGGCTGAGTGCTGACA	0.597													4	16					0	0	0	0	A	18252811	G	A	18252811	2	1	233	1	0	0	0	0	0	0	0	1	9395	1277	45	2		2	MAST3	19	18252811	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	4211879	18252811	40876172	222	42745											
GMIP	51291	broad.mit.edu	37	chr19	19740868	19740868	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgagagtagccgggctgtCtcctgggtaatctcaaaatg	9	11	12	9	2	2	1	1	0	2	1	5	2	2	1	2	2	1	3	2	2	4	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:19740868C>T	ENST00000203556.4	-	21	2954	c.2817G>A	c.(2815-2817)gaG>gaA	p.E939E	GMIP_ENST00000445806.2_Silent_p.E910E|GMIP_ENST00000587238.1_Silent_p.E913E	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	939					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCCGGGCTGTCTCCTGGGTAA	0.682													6	14					0	0	0	0	T	19740868	C	T	19740868	2	4	233	1	0	0	0	0	0	0	0	1	6542	912	32	2		2	GMIP	19	19740868	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	1488057	19740868	39388115	223	42746											
ZNF573	126231	broad.mit.edu	37	chr19	38230601	38230601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccagtatgaactctctgatGaattctaagatgtccacctt	11	13	7	10	0	2	4	0	3	2	1	4	4	3	4	3	0	1	1	3	0	4	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:38230601G>A	ENST00000339503.4	-	8	1117	c.616C>T	c.(616-618)Cat>Tat	p.H206Y	ZNF573_ENST00000536220.1_Missense_Mutation_p.H176Y|ZNF573_ENST00000590414.2_Missense_Mutation_p.H264Y|ZNF573_ENST00000392138.1_Missense_Mutation_p.H177Y|ZNF573_ENST00000357309.3_Missense_Mutation_p.H176Y	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			ACTCTCTGATGAATTCTAAGA	0.428													68	165					0	0	0	0	A	38230601	G	A	38230601	3	1	233	1	0	0	0	0	1	0	0	0	18100	1290	45	2	1211	2	ZNF573	19	38230601	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	18489733	38230601	20898382	224	42747											
RYR1	6261	broad.mit.edu	37	chr19	38976258	38976258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcctggagctgtcggagCgcctggacctgcagcgcttc	6	8	13	14	3	0	0	0	0	0	0	3	3	1	3	3	3	4	3	3	3	0	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:38976258C>T	ENST00000355481.4	+	34	5094	c.4963C>T	c.(4963-4965)Cgc>Tgc	p.R1655C	RYR1_ENST00000360985.3_Missense_Mutation_p.R1655C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1655C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1655	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGTCGGAGCGCCTGGACCT	0.627													22	74					0	0	0	0	T	38976258	C	T	38976258	3	4	233	1	0	0	0	0	1	0	0	0	13853	768	27	1	5097	1	RYR1	19	38976258	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	745657	38976258	20152725	225	42748											
CAPN12	147968	broad.mit.edu	37	chr19	39230743	39230743	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagggcatggcgcagggcaGagaacagccccatgctgttt	9	6	14	12	1	0	1	0	0	0	1	0	2	0	1	3	3	3	5	3	3	1	1	rs148710823	by1000genomes	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:39230743G>C	ENST00000328867.4	-	5	985	c.677C>G	c.(676-678)tCt>tGt	p.S226C	CAPN12_ENST00000601953.1_Missense_Mutation_p.S77C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	226	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCGCAGGGCAGAGAACAGCCC	0.627													8	37					0	0	0	0	C	39230743	G	C	39230743	3	2	233	1	0	0	0	0	1	0	0	0	2650	942	33	2	1550	2	CAPN12	19	39230743	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	254485	39230743	19898240	226	42749											
GRIK5	2901	broad.mit.edu	37	chr19	42510807	42510807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggccccacctggaagaagGtcatggtggagccggcgtgg	7	6	18	10	2	1	1	1	0	0	1	1	3	1	3	4	7	1	0	4	7	2	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:42510807G>T	ENST00000262895.3	-	15	2026	c.2027C>A	c.(2026-2028)aCc>aAc	p.T676N	GRIK5_ENST00000301218.4_Missense_Mutation_p.T676N|GRIK5_ENST00000593562.1_Missense_Mutation_p.T676N	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	676						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTGGAAGAAGGTCATGGTGGA	0.622													7	28					2.74318e-10	2.81914e-10	1	0	T	42510807	G	T	42510807	3	4	233	1	0	0	0	0	1	0	0	0	6827	1261	44	4	935	4	GRIK5	19	42510807	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	3280064	42510807	16618176	227	42750											
POU2F2	5452	broad.mit.edu	37	chr19	42599758	42599758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgatgctggtcctcttcttgCgtctccggccgggcaggccg	2	10	14	15	5	3	0	0	0	3	0	5	1	4	0	4	4	2	2	4	4	0	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:42599758C>T	ENST00000389341.5	-	10	911	c.845G>A	c.(844-846)cGc>cAc	p.R282H	POU2F2_ENST00000560398.1_Missense_Mutation_p.R304H|POU2F2_ENST00000533720.1_Missense_Mutation_p.R282H|POU2F2_ENST00000529952.1_Missense_Mutation_p.R298H|POU2F2_ENST00000529067.1_Missense_Mutation_p.R282H|POU2F2_ENST00000526816.2_Missense_Mutation_p.R298H|POU2F2_ENST00000560558.1_Missense_Mutation_p.R243H|POU2F2_ENST00000342301.4_Missense_Mutation_p.R298H	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	298					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CCTCTTCTTGCGTCTCCGGCC	0.647													8	29					0	0	0	0	T	42599758	C	T	42599758	3	4	233	1	0	0	0	0	1	0	0	0	12343	768	27	1	566	1	POU2F2	19	42599758	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	88951	42599758	16529225	228	42751											
SYMPK	8189	broad.mit.edu	37	chr19	46319745	46319745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgcagggccctcacctcctCcaagggccccgcaggcgcct	5	5	11	20	2	1	0	1	0	0	0	3	0	3	0	7	3	1	2	7	3	1	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:46319745C>G	ENST00000245934.7	-	25	3593	c.3349G>C	c.(3349-3351)Gag>Cag	p.E1117Q	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1117					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTCACCTCCTCCAAGGGCCCC	0.657													9	28					0	0	0	0	G	46319745	C	G	46319745	3	3	233	1	0	0	0	0	1	0	0	0	15530	864	30	2	487	2	SYMPK	19	46319745	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	3719987	46319745	12809238	229	42752											
ZNF835	90485	broad.mit.edu	37	chr19	57175433	57175433	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgtgcacgaggcggtgctgGaggaggtgggagcggttgct	5	8	22	6	3	0	0	0	0	0	0	0	4	0	3	0	7	4	4	0	7	0	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:57175433G>A	ENST00000537055.2	-	2	1365	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGCGGTGCTGGAGGAGGTGGG	0.667													8	36					0	0	0	0	A	57175433	G	A	57175433	2	1	233	1	0	0	0	0	0	0	0	1	18279	1161	41	2		2	ZNF835	19	57175433	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	10855688	57175433	1953550	230	42753											
ZNF549	256051	broad.mit.edu	37	chr19	58048682	58048682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccttccatcccaaatgctCattcttgtgagatgtgtatc	8	15	7	11	0	2	1	1	1	1	1	6	2	5	1	3	0	1	2	3	0	2	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:58048682C>T	ENST00000376233.3	+	4	491	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.H91Y|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	104	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H91Y(1)|p.H104Y(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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;0.026)		CCCAAATGCTCATTCTTGTGA	0.512													49	138					0	0	0	0	T	58048682	C	T	58048682	3	4	233	1	0	0	0	0	1	0	0	0	18076	826	29	2	281	2	ZNF549	19	58048682	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	873249	58048682	1080301	231	42754											
ZNF211	10520	broad.mit.edu	37	chr19	58153100	58153100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagcctcattcaccacCggagacttcacactggagaa	11	7	8	15	1	3	2	3	0	0	2	4	4	4	2	4	2	1	1	4	2	1	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:58153100C>T	ENST00000544273.1	+	5	1609	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	ZNF211_ENST00000254182.7_Missense_Mutation_p.R407W|ZNF211_ENST00000420680.1_Missense_Mutation_p.R420W|ZNF211_ENST00000347302.3_Missense_Mutation_p.R416W|ZNF211_ENST00000299871.5_Missense_Mutation_p.R481W|ZNF211_ENST00000240731.4_Missense_Mutation_p.R429W|ZNF211_ENST00000541801.1_Missense_Mutation_p.R407W|ZNF211_ENST00000391703.3_Missense_Mutation_p.R355W			Q13398	ZN211_HUMAN	zinc finger protein 211	416						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATTCACCACCGGAGACTTCA	0.478													39	77					0	0	0	0	T	58153100	C	T	58153100	3	4	233	1	0	0	0	0	1	0	0	0	17862	643	23	1	1299	1	ZNF211	19	58153100	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	104418	58153100	975883	232	42755											
ZSCAN4	201516	broad.mit.edu	37	chr19	58189590	58189590	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaactactcgagtaaatGaaaatattactaatcaaggc	19	9	6	7	2	1	1	1	1	0	0	2	3	1	1	0	1	3	1	0	1	11	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:58189590G>T	ENST00000318203.5	+	5	1316	c.619G>T	c.(619-621)Gaa>Taa	p.E207*		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	207					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCGAGTAAATGAAAATATTAC	0.403													32	70					4.2108e-06	4.31413e-06	1	0	T	58189590	G	T	58189590	4	4	233	1	0	0	0	0	0	1	0	0	18328	1291	45	2	629	2	ZSCAN4	19	58189590	Nonsense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	36490	58189590	939393	233	42756											
PLCB4	5332	broad.mit.edu	37	chr20	9416276	9416276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagagagcagaccaaatgaGagctatgggcattgaaactg	17	6	12	6	0	0	4	0	2	0	3	0	6	0	4	1	1	3	3	1	1	4	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:9416276G>A	ENST00000378501.2	+	25	2573	c.2558G>A	c.(2557-2559)aGa>aAa	p.R853K	PLCB4_ENST00000378493.1_Missense_Mutation_p.R853K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.R865K|PLCB4_ENST00000334005.3_Missense_Mutation_p.R853K|PLCB4_ENST00000278655.4_Missense_Mutation_p.R853K|PLCB4_ENST00000414679.2_Missense_Mutation_p.R865K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	853					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GACCAAATGAGAGCTATGGGC	0.368													28	79					0	0	0	0	A	9416276	G	A	9416276	3	1	233	1	0	0	0	0	1	0	0	0	12102	942	33	2	2696	2	PLCB4	20	9416276	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08		9416276	53609244	234	42757											
KIAA1755	85449	broad.mit.edu	37	chr20	36874362	36874362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcacttgctcacacaggCgcttggcagggatcaggaaa	10	7	12	12	2	2	0	2	0	0	0	3	2	2	2	0	4	1	4	0	4	1	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:36874362C>A	ENST00000279024.4	-	2	441	c.170G>T	c.(169-171)cGc>cTc	p.R57L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	57										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCACACAGGCGCTTGGCAGG	0.587													3	93					1	1	1	0	A	36874362	C	A	36874362	3	1	233	1	0	0	0	0	1	0	0	0	8308	768	27	3	3484	3	KIAA1755	20	36874362	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	27458086	36874362	26151158	235	42758											
CHD6	84181	broad.mit.edu	37	chr20	40065914	40065914	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atactgcacatttgactcacCgtttgtttctggaggccatc	8	14	8	11	1	2	1	1	1	1	0	3	2	2	2	2	2	2	3	2	2	1	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:40065914C>T	ENST00000373233.3	-	27	4245	c.4068_splice	c.e27+1	p.T1356_splice		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1356					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGACTCACCGTTTGTTTCT	0.383													25	117					0	0	0	0	T	40065914	C	T	40065914	5	4	233	1	0	0	0	0	0	0	1	0	3358	666	23	1	4123	1	CHD6	20	40065914	Splice_Site	SNP	C	TCGA-CV-5442-01A-01D-1512-08	3191552	40065914	22959606	236	42759											
HNF4A	3172	broad.mit.edu	37	chr20	43030051	43030051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcgacatggacatggcCgactacagtgctgcactgga	9	8	12	12	3	0	0	0	0	0	0	2	4	0	2	1	3	3	2	1	3	1	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:43030051C>T	ENST00000316099.3	+	1	128	c.39C>T	c.(37-39)gcC>gcT	p.A13A	HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000443598.2_Silent_p.A13A|HNF4A_ENST00000415691.1_Silent_p.A13A	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	13					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGGACATGGCCGACTACAGTG	0.637													31	92					0	0	0	0	T	43030051	C	T	43030051	2	4	233	1	0	0	0	0	0	0	0	1	7303	639	23	1		1	HNF4A	20	43030051	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	2964137	43030051	19995469	237	42760											
NCOA3	8202	broad.mit.edu	37	chr20	46264311	46264311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggcatgcaatcaccatcttCctaccagaacaacaactatg	15	8	5	13	0	2	1	1	0	1	1	3	1	3	1	3	1	5	2	3	1	6	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:46264311C>T	ENST00000372004.3	+	11	1574	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	NCOA3_ENST00000371997.3_Missense_Mutation_p.S463F|NCOA3_ENST00000371998.3_Missense_Mutation_p.S453F|NCOA3_ENST00000341724.6_Missense_Mutation_p.S463F	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	453					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCACCATCTTCCTACCAGAAC	0.522													26	82					0	0	0	0	T	46264311	C	T	46264311	3	4	233	1	0	0	0	0	1	0	0	0	10300	855	30	2	1422	2	NCOA3	20	46264311	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	3234260	46264311	16761209	238	42761											
ADNP	23394	broad.mit.edu	37	chr20	49508078	49508078	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccactcaatctgggggttaGataagcgctcatcattctca	10	11	9	11	1	5	1	4	0	2	1	6	1	5	1	1	2	1	2	1	2	3	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:49508078G>C	ENST00000396029.3	-	5	3740	c.3173C>G	c.(3172-3174)tCt>tGt	p.S1058C	ADNP_ENST00000371602.4_Missense_Mutation_p.S1058C|ADNP_ENST00000349014.3_Missense_Mutation_p.S1058C|ADNP_ENST00000396032.3_Missense_Mutation_p.S1058C	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1058						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S1058fs*23(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CTGGGGGTTAGATAAGCGCTC	0.458													56	194					0	0	0	0	C	49508078	G	C	49508078	3	2	233	1	0	0	0	0	1	0	0	0	323	942	33	2	139	2	ADNP	20	49508078	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	3243767	49508078	13517442	239	42762											
CTCFL	140690	broad.mit.edu	37	chr20	56073693	56073693	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtggtttctctgcaggcGacaggaaacatctctcctgg	7	11	12	11	1	2	0	0	0	2	0	5	2	3	1	1	4	2	3	1	4	1	1	rs141206026	by1000genomes	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:56073693G>A	ENST00000429804.2	-	10	2315	c.1755C>T	c.(1753-1755)gtC>gtT	p.V585V	CTCFL_ENST00000423479.2_Silent_p.V635V|CTCFL_ENST00000371196.2_Silent_p.V635V|CTCFL_ENST00000243914.3_Silent_p.V635V	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	635					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCTGCAGGCGACAGGAAACA	0.502													37	101					0	0	0	0	A	56073693	G	A	56073693	2	1	233	1	0	0	0	0	0	0	0	1	4033	1045	37	1		1	CTCFL	20	56073693	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	6565615	56073693	6951827	240	42763											
LIPI	149998	broad.mit.edu	37	chr21	15525004	15525004	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atactgagaacaaaataataGgctacaaaataaaaatatag	24	8	5	4	0	0	1	0	1	0	1	0	2	0	1	0	1	3	1	0	1	14	7			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr21:15525004G>A	ENST00000344577.2	-	8	1096	c.1069_splice	c.e8-1	p.T357_splice	LIPI_ENST00000536861.1_Splice_Site_p.T336_splice	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	336					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CAAAATAATAGGCTACAAAAT	0.249													9	22					0	0	0	0	A	15525004	G	A	15525004	5	1	233	1	0	0	0	0	0	0	1	0	8880	1014	35	4	386	4	LIPI	21	15525004	Splice_Site	SNP	G	TCGA-CV-5442-01A-01D-1512-08		15525004	32604891	241	42764											
SON	6651	broad.mit.edu	37	chr21	34931547	34931547	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttaaagaaatgtaaacaGatcgcacagagtaaagaaga	20	8	8	5	1	0	5	0	0	0	5	1	5	0	5	0	0	1	3	0	0	8	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr21:34931547G>A	ENST00000356577.4	+	5	6808	c.6333G>A	c.(6331-6333)caG>caA	p.Q2111Q	SON_ENST00000290239.6_Silent_p.Q2111Q|SON_ENST00000300278.4_Silent_p.Q2111Q|SON_ENST00000381692.2_Silent_p.Q139Q	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	2111					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AATGTAAACAGATCGCACAGA	0.303													23	61					0	0	0	0	A	34931547	G	A	34931547	2	1	233	1	0	0	0	0	0	0	0	1	15014	933	33	2		2	SON	21	34931547	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	19406543	34931547	13198348	242	42765											
ERG	2078	broad.mit.edu	37	chr21	39764247	39764247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatatactccatcaacagtCatccactgcctgtgacatga	12	12	5	12	0	2	2	2	2	0	0	4	2	4	2	3	0	3	0	3	0	4	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr21:39764247C>T	ENST00000429727.2	-	4	548	c.508G>A	c.(508-510)Gac>Aac	p.D170N	ERG_ENST00000442448.1_Intron|ERG_ENST00000398907.1_Intron|ERG_ENST00000398919.2_Intron|ERG_ENST00000417133.2_Intron|ERG_ENST00000398897.1_Intron|ERG_ENST00000288319.7_Intron|ERG_ENST00000398911.1_Intron|ERG_ENST00000453032.2_Intron|ERG_ENST00000398910.1_Intron|ERG_ENST00000398905.1_Intron			P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CATCAACAGTCATCCACTGCC	0.473			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								4	5					0	0	0	0	T	39764247	C	T	39764247	3	4	233	1	0	0	0	0	1	0	0	0	5260	841	29	2		2	ERG	21	39764247	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	4832700	39764247	8365648	243	42766											
PCNT	5116	broad.mit.edu	37	chr21	47836709	47836709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctggcactgcagtgggccGagtctccgccggctgacgac	5	6	15	15	5	1	1	0	1	1	0	2	3	1	1	3	3	1	4	3	3	0	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr21:47836709G>A	ENST00000359568.5	+	30	6984	c.6877G>A	c.(6877-6879)Gag>Aag	p.E2293K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2293					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.E2293K(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCAGTGGGCCGAGTCTCCGCC	0.692													19	19					0	0	0	0	A	47836709	G	A	47836709	3	1	233	1	0	0	0	0	1	0	0	0	11661	1059	37	1	6995	1	PCNT	21	47836709	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	8072462	47836709	293186	244	42767											
MAPK1	5594	broad.mit.edu	37	chr22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaacatgagctcttacctCgtcactcgggtcgtaatact	10	11	9	11	3	2	1	1	1	1	0	5	2	2	2	1	2	4	2	1	2	4	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K|MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478													20	37					0	0	0	0	T	22127164	C	T	22127164	3	4	233	1	0	0	0	0	1	0	0	0	9340	893	31	1	126	1	MAPK1	22	22127164	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08		22127164	29177402	245	42768											
ADRBK2	157	broad.mit.edu	37	chr22	26083563	26083563	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctgagaaggagatgcggTtttatgccactgaaatcatt	11	13	10	7	1	2	3	1	2	1	2	3	5	2	3	1	2	2	1	1	2	3	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:26083563T>A	ENST00000324198.5	+	11	1078	c.886T>A	c.(886-888)Ttt>Att	p.F296I		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	296	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GGAGATGCGGTTTTATGCCAC	0.428													22	39					0	0	0	0	A	26083563	T	A	26083563	3	1	233	1	0	0	0	0	1	0	0	0	344	1725	60	5	928	5	ADRBK2	22	26083563	Missense_Mutation	SNP	T	TCGA-CV-5442-01A-01D-1512-08	3956399	26083563	25221003	246	42769											
TBC1D10A	83874	broad.mit.edu	37	chr22	30691791	30691791	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtgcaggtcacgctcaatCacgtccagccacttggggtc	7	8	12	14	3	3	0	3	0	0	0	5	0	4	0	2	4	2	2	2	4	1	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:30691791C>T	ENST00000215790.7	-	4	623	c.459G>A	c.(457-459)gtG>gtA	p.V153V	TBC1D10A_ENST00000403362.1_Silent_p.V65V|TBC1D10A_ENST00000403477.3_Silent_p.V160V|RP1-130H16.18_ENST00000447976.1_Silent_p.V27V	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	153	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CACGCTCAATCACGTCCAGCC	0.627													10	28					0	0	0	0	T	30691791	C	T	30691791	2	4	233	1	0	0	0	0	0	0	0	1	15689	813	29	2		2	TBC1D10A	22	30691791	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	4608228	30691791	20612775	247	42770											
RFPL3	10738	broad.mit.edu	37	chr22	32756289	32756289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaacttcctcctcatttctGacgacctcaggagcgtccga	9	10	7	15	3	3	1	2	1	1	0	6	4	6	2	4	1	2	0	4	1	1	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:32756289G>A	ENST00000249007.4	+	2	629	c.424G>A	c.(424-426)Gac>Aac	p.D142N	RFPL3_ENST00000382088.3_Missense_Mutation_p.D113N|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.D113N	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	142	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CCTCATTTCTGACGACCTCAG	0.532													45	92					0	0	0	0	A	32756289	G	A	32756289	3	1	233	1	0	0	0	0	1	0	0	0	13337	1290	45	2	430	2	RFPL3	22	32756289	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	2064498	32756289	18548277	248	42771											
FOXRED2	80020	broad.mit.edu	37	chr22	36889786	36889786	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgttaagaagtcttccacGatgtgatggatggccgtggg	8	12	14	7	2	2	2	0	1	2	1	3	4	3	3	2	3	0	1	2	3	2	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:36889786G>A	ENST00000397224.4	-	8	1782	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	FOXRED2_ENST00000216187.6_Silent_p.I563I|FOXRED2_ENST00000397223.4_Silent_p.I563I|FOXRED2_ENST00000366463.3_Silent_p.I115I	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	563					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGTCTTCCACGATGTGATGGA	0.597													4	82					0	0	0	0	A	36889786	G	A	36889786	2	1	233	1	0	0	0	0	0	0	0	1	6081	1048	37	1		1	FOXRED2	22	36889786	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	4133497	36889786	14414780	249	42772											
TNRC6B	23112	broad.mit.edu	37	chr22	40662468	40662468	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caatcaaggatggtcttctgGaaagaatggttggggggagg	11	9	17	4	0	3	1	1	0	2	1	3	4	3	4	0	8	0	1	0	8	4	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:40662468G>C	ENST00000454349.2	+	5	2445	c.2234G>C	c.(2233-2235)gGa>gCa	p.G745A	TNRC6B_ENST00000335727.8_Missense_Mutation_p.G745A|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	745					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						TGGTCTTCTGGAAAGAATGGT	0.517													11	27					0	0	0	0	C	40662468	G	C	40662468	3	2	233	1	0	0	0	0	1	0	0	0	16435	1174	41	2	2373	2	TNRC6B	22	40662468	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	3772682	40662468	10642098	250	42773											
NAGA	4668	broad.mit.edu	37	chr22	42461763	42461763	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtcagggtcattccagtgCccagggccggccactggctg	6	8	14	13	1	2	0	2	0	0	0	3	0	3	0	4	4	1	1	4	4	0	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:42461763C>T	ENST00000396398.3	-	6	1270	c.738G>A	c.(736-738)ggG>ggA	p.G246G	NAGA_ENST00000403363.1_Silent_p.G246G|NAGA_ENST00000402937.1_Silent_p.G246G	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	246					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CATTCCAGTGCCCAGGGCCGG	0.587													14	48					0	0	0	0	T	42461763	C	T	42461763	2	4	233	1	0	0	0	0	0	0	0	1	10211	726	26	4		4	NAGA	22	42461763	Silent	SNP	C	TCGA-CV-5442-01A-01D-1512-08	1799295	42461763	8842803	251	42774											
GRAMD4	23151	broad.mit.edu	37	chr22	47071407	47071407	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaatctgggtcctcaaagagGaacaaagtcatcaagctagt	16	8	9	8	0	4	1	3	0	1	1	5	2	5	2	1	2	2	1	1	2	6	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:47071407G>A	ENST00000406902.1	+	17	1734	c.1521G>A	c.(1519-1521)agG>agA	p.R507R	GRAMD4_ENST00000361034.3_Silent_p.R507R|GRAMD4_ENST00000408031.1_Silent_p.R30R			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	507	GRAM.				apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCTCAAAGAGGAACAAAGTCA	0.552													76	109					0	0	0	0	A	47071407	G	A	47071407	2	1	233	1	0	0	0	0	0	0	0	1	6802	1165	41	2		2	GRAMD4	22	47071407	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	4609644	47071407	4233159	252	42775											
GYG2	8908	broad.mit.edu	37	chrX	2773149	2773149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagccttctctccacaCgcataaactcctgctacagc	9	10	4	18	1	1	0	0	0	1	0	5	0	4	0	4	0	5	2	4	0	3	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:2773149C>T	ENST00000381163.3	+	6	815	c.533C>T	c.(532-534)aCg>aTg	p.T178M	GYG2_ENST00000542787.1_Missense_Mutation_p.T178M|GYG2_ENST00000338623.5_Missense_Mutation_p.T178M|GYG2_ENST00000398806.3_Missense_Mutation_p.T147M|GYG2_ENST00000381161.1_3'UTR	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	178					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTCTCCACACGCATAAACTC	0.572													54	160					0	0	0	0	T	2773149	C	T	2773149	3	4	233	1	0	0	0	0	1	0	0	0	6956	536	19	1	551	1	GYG2	23	2773149	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08		2773149	152497411	253	42776											
ARSF	416	broad.mit.edu	37	chrX	3002413	3002413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggccggacccctctcGtaacacggaattagcctttg	7	10	10	14	3	1	0	0	0	1	0	2	2	1	2	4	3	3	2	4	3	3	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:3002413G>A	ENST00000381127.1	+	6	757	c.536G>A	c.(535-537)cGt>cAt	p.R179H	ARSF_ENST00000359361.2_Missense_Mutation_p.R179H|ARSF_ENST00000537104.1_Missense_Mutation_p.R179H	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	179						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GACCCCTCTCGTAACACGGAA	0.537													52	113					0	0	0	0	A	3002413	G	A	3002413	3	1	233	1	0	0	0	0	1	0	0	0	995	1145	40	1	554	1	ARSF	23	3002413	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	229264	3002413	152268147	254	42777											
STS	412	broad.mit.edu	37	chrX	7268021	7268021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacgtgtgcttctgtttcGggagttatgtcacccatcac	7	13	9	12	2	3	0	2	0	1	0	4	1	3	1	1	1	1	3	1	1	1	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:7268021G>A	ENST00000217961.4	+	10	1691	c.1471G>A	c.(1471-1473)Ggg>Agg	p.G491R		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	491					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CTTCTGTTTCGGGAGTTATGT	0.507									Ichthyosis				55	142					0	0	0	0	A	7268021	G	A	7268021	3	1	233	1	0	0	0	0	1	0	0	0	15422	1116	39	1	1509	1	STS	23	7268021	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	4265608	7268021	148002539	255	42778											
HCCS	3052	broad.mit.edu	37	chrX	11135450	11135450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgtctactgtcagagaaGagtcatccattccgagagca	12	10	9	10	1	3	3	2	0	1	3	5	5	5	3	2	0	2	1	2	0	2	3	rs144634482		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:11135450G>C	ENST00000321143.4	+	4	518	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	HCCS_ENST00000380762.4_Missense_Mutation_p.E106Q|HCCS_ENST00000380763.3_Missense_Mutation_p.E106Q	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	106					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						TGTCAGAGAAGAGTCATCCAT	0.393													72	172					0	0	0	0	C	11135450	G	C	11135450	3	2	233	1	0	0	0	0	1	0	0	0	7040	943	33	2	326	2	HCCS	23	11135450	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	3867429	11135450	144135110	256	42779											
BMX	660	broad.mit.edu	37	chrX	15555263	15555263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccttgttaggaatctGggaactgaaaagagaagaga	14	10	12	5	0	2	3	0	1	2	2	2	7	2	5	1	2	2	1	1	2	6	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:15555263G>T	ENST00000357607.2	+	14	1417	c.1229G>T	c.(1228-1230)tGg>tTg	p.W410L	BMX_ENST00000348343.6_Missense_Mutation_p.W410L|BMX_ENST00000342014.6_Missense_Mutation_p.W410L			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	410					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)					TTAGGAATCTGGGAACTGAAA	0.483													91	271					9.24773e-40	9.86819e-40	1	0	T	15555263	G	T	15555263	3	4	233	1	0	0	0	0	1	0	0	0	1478	1357	47	4	1279	4	BMX	23	15555263	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	4419813	15555263	139715297	257	42780											
CDKL5	6792	broad.mit.edu	37	chrX	18631353	18631353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaccatcagagagcagttCtggaaccaaccactcaaaaa	16	7	6	12	0	4	1	2	0	2	1	4	3	4	2	3	1	4	2	3	1	5	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:18631353C>A	ENST00000379989.3	+	16	2519	c.2234C>A	c.(2233-2235)tCt>tAt	p.S745Y	CDKL5_ENST00000463994.1_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.S745Y	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	745				Missing (in Ref. 4; CAA61445).	neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GAGAGCAGTTCTGGAACCAAC	0.363													5	206					1	1	1	0	A	18631353	C	A	18631353	3	1	233	1	0	0	0	0	1	0	0	0	3186	913	32	2	2288	2	CDKL5	23	18631353	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	3076090	18631353	136639207	258	42781											
SH3KBP1	30011	broad.mit.edu	37	chrX	19702076	19702076	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagttgccactgtcccGttggcaccttcagacttggt	5	12	11	13	1	1	1	1	0	0	1	2	1	2	1	3	2	2	5	3	2	0	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:19702076G>A	ENST00000397821.3	-	6	881	c.591C>T	c.(589-591)aaC>aaT	p.N197N	SH3KBP1_ENST00000379697.3_Silent_p.N241N|SH3KBP1_ENST00000379698.4_Silent_p.N160N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	197					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCACTGTCCCGTTGGCACCTT	0.507													65	167					0	0	0	0	A	19702076	G	A	19702076	2	1	233	1	0	0	0	0	0	0	0	1	14343	1136	40	1		1	SH3KBP1	23	19702076	Silent	SNP	G	TCGA-CV-5442-01A-01D-1512-08	1070723	19702076	135568484	259	42782											
OTC	5009	broad.mit.edu	37	chrX	38262913	38262913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcttaccctcagctggatcGgggatgggaacaatatcctg	9	10	12	10	1	2	0	1	0	1	0	4	3	3	3	2	4	3	1	2	4	4	2	rs67294956		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:38262913G>A	ENST00000039007.4	+	6	735	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	195			G -> R (in OTCD; no activity).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CAGCTGGATCGGGGATGGGAA	0.478													43	91					0	0	0	0	A	38262913	G	A	38262913	3	1	233	1	0	0	0	0	1	0	0	0	11372	1116	39	1	605	1	OTC	23	38262913	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	18560837	38262913	117007647	260	42783											
PPP1R3F	89801	broad.mit.edu	37	chrX	49142813	49142813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctggctgaggagatcaCgctgcactatgcccggctgg	6	7	14	14	3	1	2	1	1	0	1	1	3	1	2	2	4	2	4	2	4	1	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:49142813C>T	ENST00000055335.6	+	4	1677	c.1661C>T	c.(1660-1662)aCg>aTg	p.T554M	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.T225M|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.T208M	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	554						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GAGGAGATCACGCTGCACTAT	0.647													16	39					0	0	0	0	T	49142813	C	T	49142813	3	4	233	1	0	0	0	0	1	0	0	0	12451	536	19	1	1675	1	PPP1R3F	23	49142813	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	10879900	49142813	106127747	261	42784											
KDM5C	8242	broad.mit.edu	37	chrX	53243984	53243984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcacacagcaggagcttgtCatcctcatcccctcgagaac	11	8	7	15	1	3	1	3	0	0	1	6	3	5	2	3	1	3	2	3	1	1	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:53243984C>T	ENST00000452825.3	-	6	1340	c.808G>A	c.(808-810)Gac>Aac	p.D270N	KDM5C_ENST00000375401.3_Missense_Mutation_p.D337N|KDM5C_ENST00000375383.3_Missense_Mutation_p.D296N|KDM5C_ENST00000375379.3_Missense_Mutation_p.D337N|KDM5C_ENST00000404049.3_Missense_Mutation_p.D336N	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	337					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGGAGCTTGTCATCCTCATCC	0.537			"N, F, S"		clear cell renal carcinoma								22	38					0	0	0	0	T	53243984	C	T	53243984	3	4	233	1	0	0	0	0	1	0	0	0	8187	826	29	2	3847	2	KDM5C	23	53243984	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	4101171	53243984	102026576	262	42785											
HUWE1	10075	broad.mit.edu	37	chrX	53573555	53573555	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtgggatgtcaacaccTgagaaaaagaagacagaagg	19	4	13	5	0	1	5	1	1	0	5	1	7	1	6	1	2	1	0	1	2	6	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:53573555T>A	ENST00000342160.3	-	69	11216		c.e69-2		HUWE1_ENST00000474288.1_Splice_Site|HUWE1_ENST00000262854.6_Splice_Site			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTCAACACCTGAGAAAAAGA	0.502													24	27					0	0	0	0	A	53573555	T	A	53573555	5	1	233	1	0	0	0	0	0	0	1	0	7514	1594	55	5	2427	5	HUWE1	23	53573555	Splice_Site	SNP	T	TCGA-CV-5442-01A-01D-1512-08	329571	53573555	101697005	263	42786											
IGBP1	3476	broad.mit.edu	37	chrX	69385733	69385733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagaacaagaagaaaaggagGaagaggatgatgaacaaaca	24	2	12	3	0	0	6	0	2	0	4	0	9	0	9	0	3	3	0	0	3	9	0			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:69385733G>A	ENST00000342206.6	+	6	1421	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	IGBP1_ENST00000356413.4_Missense_Mutation_p.E308K			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	308					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						AGAAAAGGAGGAAGAGGATGA	0.468													17	41					0	0	0	0	A	69385733	G	A	69385733	3	1	233	1	0	0	0	0	1	0	0	0	7620	1175	41	2	944	2	IGBP1	23	69385733	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	15812178	69385733	85884827	264	42787											
KIF4A	24137	broad.mit.edu	37	chrX	69595998	69595998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtcaaatgaaagaagatGctgagaagtttagacagtgg	15	9	13	4	1	1	5	1	2	0	4	1	6	1	5	0	1	2	2	0	1	5	2			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:69595998G>A	ENST00000374403.3	+	18	2054	c.1972G>A	c.(1972-1974)Gct>Act	p.A658T	KIF4A_ENST00000374388.3_Missense_Mutation_p.A658T	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	658					anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GAAAGAAGATGCTGAGAAGTT	0.338													21	58					0	0	0	0	A	69595998	G	A	69595998	3	1	233	1	0	0	0	0	1	0	0	0	8354	1319	46	4	2038	4	KIF4A	23	69595998	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	210265	69595998	85674562	265	42788											
CXCR3	2833	broad.mit.edu	37	chrX	70836869	70836870	+	Frame_Shift_Ins	INS	-	-	AGGT																															gggtggcatgaactatgttcINSaggtagcggtcaaagctgat																										TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:70836869_70836870insAGGT	ENST00000373691.4	-	2	756_757	c.593_594insACCT	c.(592-594)caafs	p.Q198fs	CXCR3_ENST00000373693.3_Frame_Shift_Ins_p.Q151fs	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	151					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GAACTATGTTCAGGTAGCGGTC	0.634													10	39	---	---	---	---					AGGT	70836870	-	AGGT	70836869	7	5	233	1	0	1	1	0	0	0	0	0	4124	813	29	0	657	0	CXCR3	23	70836869	Frame_Shift_Ins	INS	-	TCGA-CV-5442-01A-01D-1512-08	1240871	70836869	84433691	266	42789											
RPS6KA6	27330	broad.mit.edu	37	chrX	83361414	83361414	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtagttgcatgtatgcatcGcttgcaaacagagtaggagc	11	10	13	7	1	0	1	0	0	0	1	1	2	0	2	0	2	5	8	0	2	4	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:83361414G>A	ENST00000262752.2	-	15	1331	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R442*|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	442	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TGTATGCATCGCTTGCAAACA	0.348													10	34					0	0	0	0	A	83361414	G	A	83361414	4	1	233	1	0	0	0	0	0	1	0	0	13740	1095	38	1	945	1	RPS6KA6	23	83361414	Nonsense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	12524545	83361414	71909146	267	42790											
RHOXF1	158800	broad.mit.edu	37	chrX	119249462	119249462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaacttcgtgcgccgagttCgtggctgcatgttctcgggc	4	12	14	11	5	1	1	0	1	1	0	4	2	1	1	1	2	3	4	1	2	1	3			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:119249462C>T	ENST00000217999.2	-	1	385	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	104					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GCGCCGAGTTCGTGGCTGCAT	0.652													31	101					0	0	0	0	T	119249462	C	T	119249462	3	4	233	1	0	0	0	0	1	0	0	0	13430	884	31	1	255	1	RHOXF1	23	119249462	Missense_Mutation	SNP	C	TCGA-CV-5442-01A-01D-1512-08	35888048	119249462	36021098	268	42791											
FRMD7	90167	broad.mit.edu	37	chrX	131212241	131212241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctaaattctgacccaaaagGaaaacgaatagttttcatgt	16	12	6	7	1	3	1	1	1	2	0	3	3	3	2	1	1	1	1	1	1	8	5			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:131212241G>A	ENST00000298542.4	-	12	1979	c.1804C>T	c.(1804-1806)Cct>Tct	p.P602S	FRMD7_ENST00000464296.1_Missense_Mutation_p.P587S|FRMD7_ENST00000370879.1_Missense_Mutation_p.P482S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	602					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GACCCAAAAGGAAAACGAATA	0.433													56	170					0	0	0	0	A	131212241	G	A	131212241	3	1	233	1	0	0	0	0	1	0	0	0	6103	1174	41	2	344	2	FRMD7	23	131212241	Missense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	11962779	131212241	24058319	269	42792											
ATP11C	286410	broad.mit.edu	37	chrX	138840005	138840005	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaactggtacaaaaactGtggcaaaatgaaacaaaggt	20	6	10	5	0	0	2	0	1	0	1	0	3	0	2	0	3	4	2	0	3	9	1			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:138840005G>A	ENST00000370557.1	-	23	3680	c.2653C>T	c.(2653-2655)Cag>Tag	p.Q885*	ATP11C_ENST00000361648.2_Nonsense_Mutation_p.Q891*|ATP11C_ENST00000359686.2_Nonsense_Mutation_p.Q891*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.Q891*|ATP11C_ENST00000327569.3_Nonsense_Mutation_p.Q891*|ATP11C_ENST00000460773.1_5'UTR			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	891					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TACAAAAACTGTGGCAAAATG	0.289													13	33					0	0	0	0	A	138840005	G	A	138840005	4	1	233	1	0	0	0	0	0	1	0	0	1125	1386	48	4	822	4	ATP11C	23	138840005	Nonsense_Mutation	SNP	G	TCGA-CV-5442-01A-01D-1512-08	7627764	138840005	16430555	270	42793											
SLITRK4	139065	broad.mit.edu	37	chrX	142718807	142718807	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccttctcacagttgacatAgagcacattctcaactgaca	14	10	5	12	0	2	3	2	2	2	1	4	3	2	3	1	0	3	2	1	0	3	4			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:142718807A>G	ENST00000381779.4	-	2	343	c.118T>C	c.(118-120)Tat>Cat	p.Y40H	SLITRK4_ENST00000356928.1_Missense_Mutation_p.Y40H|SLITRK4_ENST00000338017.4_Missense_Mutation_p.Y40H	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	40						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)					CAGTTGACATAGAGCACATTC	0.373													5	163					0	0	0	0	G	142718807	A	G	142718807	3	3	233	1	0	0	0	0	1	0	0	0	14833	420	15	5	2399	5	SLITRK4	23	142718807	Missense_Mutation	SNP	A	TCGA-CV-5442-01A-01D-1512-08	3878802	142718807	12551753	271	42794											
TIE1	7075	broad.mit.edu	37	chr1	43777409	43777409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccagcttgtggtctccccGctggtctcgttctctgggga	2	12	13	14	3	3	0	0	0	3	0	6	1	3	1	3	4	1	3	3	4	0	2			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:43777409G>A	ENST00000372476.3	+	10	1480	c.1401G>A	c.(1399-1401)ccG>ccA	p.P467P	TIE1_ENST00000433781.2_Silent_p.P112P	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	467	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGTCTCCCCGCTGGTCTCGT	0.647													23	60					0	0	0	0	A	43777409	G	A	43777409	2	1	234	1	0	0	0	0	0	0	0	1	15987	1074	38	1		1	TIE1	1	43777409	Silent	SNP	G	TCGA-CV-5443-01A-01D-1512-08		43777409	205473212	1	42795											
MPL	4352	broad.mit.edu	37	chr1	43804269	43804269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgccccactttggaacccGatacgtgtgccagtttccag	8	10	9	14	2	0	0	0	0	0	0	1	2	1	1	5	1	4	1	5	1	2	3			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:43804269G>A	ENST00000372470.3	+	3	311	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	MPL_ENST00000413998.2_Missense_Mutation_p.R90Q	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	90					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTGGAACCCGATACGTGTGC	0.572			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						23	84					0	0	0	0	A	43804269	G	A	43804269	3	1	234	1	0	0	0	0	1	0	0	0	9800	1058	37	1	279	1	MPL	1	43804269	Missense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08	26860	43804269	205446352	2	42796											
HIST2H2BE	8349	broad.mit.edu	37	chr1	149858146	149858146	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttggtgacggctttcttGgagccctttttaggggccgg	3	14	15	9	2	1	1	0	1	1	0	1	2	1	2	2	6	1	2	2	6	1	6			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:149858146G>C	ENST00000369155.2	-	1	86	c.45C>G	c.(43-45)tcC>tcG	p.S15S		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	15					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGGCTTTCTTGGAGCCCTTTT	0.537													35	77					0	0	0	0	C	149858146	G	C	149858146	2	2	234	1	0	0	0	0	0	0	0	1	7229	1335	47	4		4	HIST2H2BE	1	149858146	Silent	SNP	G	TCGA-CV-5443-01A-01D-1512-08	106053877	149858146	99392475	3	42797											
PAQR6	79957	broad.mit.edu	37	chr1	156214599	156214599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctttcaggcaggtgggagGcgaagaggaagccagtgagc	10	5	18	8	1	1	2	1	1	0	1	1	5	1	4	2	5	2	1	2	5	2	1			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:156214599G>T	ENST00000335852.1	-	6	1010	c.395C>A	c.(394-396)gCc>gAc	p.A132D	PAQR6_ENST00000540423.1_Missense_Mutation_p.A235D|PAQR6_ENST00000292291.5_Missense_Mutation_p.A238D|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Missense_Mutation_p.A132D|PAQR6_ENST00000368270.1_Missense_Mutation_p.A214D|PAQR6_ENST00000360733.2_Missense_Mutation_p.A132D	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	238						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					CAGGTGGGAGGCGAAGAGGAA	0.672													15	42					0.00400662	0.00413587	1	0	T	156214599	G	T	156214599	3	4	234	1	0	0	0	0	1	0	0	0	11510	1203	42	4	668	4	PAQR6	1	156214599	Missense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08	6356453	156214599	93036022	4	42798											
OR2M3	127062	broad.mit.edu	37	chr1	248366532	248366532	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatctacctggacacccagCtccacacccccatgtacctc	9	8	4	20	0	2	0	1	0	1	0	4	1	3	1	6	1	3	2	6	1	2	2			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:248366532C>A	ENST00000456743.1	+	1	201	c.163C>A	c.(163-165)Ctc>Atc	p.L55I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGACACCCAGCTCCACACCCC	0.557													114	271					1.54771e-57	1.81196e-57	1	0	A	248366532	C	A	248366532	3	1	234	1	0	0	0	0	1	0	0	0	11082	797	28	4	165	4	OR2M3	1	248366532	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08	92151933	248366532	884089	5	42799											
C2orf16	84226	broad.mit.edu	37	chr2	27804538	27804538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcgcagtccctctcagaGgagccatcgtggtccctctg	7	9	10	15	2	2	1	1	0	2	1	7	2	4	2	3	2	1	1	3	2	0	0			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:27804538G>A	ENST00000408964.2	+	1	5150	c.5099G>A	c.(5098-5100)aGg>aAg	p.R1700K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1700	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCTCTCAGAGGAGCCATCGT	0.587													8	237					0	0	0	0	A	27804538	G	A	27804538	3	1	234	1	0	0	0	0	1	0	0	0	2177	1000	35	4	5101	4	C2orf16	2	27804538	Missense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08		27804538	215394835	6	42800											
RMND5A	64795	broad.mit.edu	37	chr2	86947840	86947840	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggagaaggtgctgcacaAgttctcaggctacgggcagc	9	7	15	10	1	1	1	1	0	1	1	2	2	1	1	0	4	4	6	0	4	3	2			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:86947840A>T	ENST00000283632.4	+	1	545	c.50A>T	c.(49-51)aAg>aTg	p.K17M	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	17										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						GTGCTGCACAAGTTCTCAGGC	0.687													4	1					0	0	0	0	T	86947840	A	T	86947840	3	4	234	1	0	0	0	0	1	0	0	0	13482	72	3	5	52	5	RMND5A	2	86947840	Missense_Mutation	SNP	A	TCGA-CV-5443-01A-01D-1512-08	59143302	86947840	156251533	7	42801											
CNTNAP5	129684	broad.mit.edu	37	chr2	125175049	125175049	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaacatgaatgctgacagCgtggtgcaccacaagctatt	13	8	11	9	1	0	2	0	2	0	0	0	3	0	3	1	2	5	3	1	2	4	2			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:125175049C>G	ENST00000431078.1	+	4	775	c.411C>G	c.(409-411)agC>agG	p.S137R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	137	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATGCTGACAGCGTGGTGCACC	0.488													11	25					0	0	0	0	G	125175049	C	G	125175049	3	3	234	1	0	0	0	0	1	0	0	0	3680	767	27	3	425	3	CNTNAP5	2	125175049	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08	38227209	125175049	118024324	8	42802											
CNTNAP5	129684	broad.mit.edu	37	chr2	125204332	125204332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcccctcttcacaggtGacagcaaagcgcggctcagc	8	8	9	16	2	4	1	2	1	2	0	6	1	5	1	2	2	3	2	2	2	1	1			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:125204332G>T	ENST00000431078.1	+	6	1100	c.736G>T	c.(736-738)Gac>Tac	p.D246Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	246	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTCACAGGTGACAGCAAAGC	0.567													15	53					1.67942e-08	1.8115e-08	1	0	T	125204332	G	T	125204332	3	4	234	1	0	0	0	0	1	0	0	0	3680	1290	45	2	758	2	CNTNAP5	2	125204332	Missense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08	29283	125204332	117995041	9	42803											
LRP1B	53353	broad.mit.edu	37	chr2	141598619	141598619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctaatccagtataaattaCgtgacacccaatccactgct	14	10	5	12	1	0	1	0	1	0	0	2	1	2	1	3	0	3	3	3	0	6	4			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:141598619C>T	ENST00000389484.3	-	30	5953	c.4982G>A	c.(4981-4983)cGt>cAt	p.R1661H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1661					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATAAATTACGTGACACCCA	0.373										TSP Lung(27;0.18)			24	80					0	0	0	0	T	141598619	C	T	141598619	3	4	234	1	0	0	0	0	1	0	0	0	9019	536	19	1	9065	1	LRP1B	2	141598619	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08	16394287	141598619	101600754	10	42804											
TMEM198	130612	broad.mit.edu	37	chr2	220412472	220412472	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgccctgctgggctcCgcaccctactaccagccagg	5	7	11	18	1	0	0	0	0	0	0	1	0	1	0	5	2	6	5	5	2	2	2			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:220412472C>T	ENST00000344458.2	+	4	996	c.411C>T	c.(409-411)tcC>tcT	p.S137S	TMEM198_ENST00000373883.3_Silent_p.S137S			Q66K66	TM198_HUMAN	transmembrane protein 198	137	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCTGGGCTCCGCACCCTACT	0.716													12	32					0	0	0	0	T	220412472	C	T	220412472	2	4	234	1	0	0	0	0	0	0	0	1	16213	639	23	1		1	TMEM198	2	220412472	Silent	SNP	C	TCGA-CV-5443-01A-01D-1512-08	78813853	220412472	22786901	11	42805											
MORC1	27136	broad.mit.edu	37	chr3	108773723	108773723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattccaaccacgcctgcGccaagtctgagaaaatatat	15	8	6	12	2	1	1	0	1	1	1	2	2	2	1	4	0	2	0	4	0	7	3	rs7631480	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr3:108773723G>A	ENST00000232603.5	-	14	1264	c.1182C>T	c.(1180-1182)ggC>ggT	p.G394G	MORC1_ENST00000483760.1_Silent_p.G394G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	394					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.G394G(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CCACGCCTGCGCCAAGTCTGA	0.303													22	57					0	0	0	0	A	108773723	G	A	108773723	2	1	234	1	0	0	0	0	0	0	0	1	9771	1074	38	1		1	MORC1	3	108773723	Silent	SNP	G	TCGA-CV-5443-01A-01D-1512-08		108773723	89248707	12	42806											
XRN1	54464	broad.mit.edu	37	chr3	142103391	142103391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatagtttgataaacaaaagGaacaacttgttttgaccact	17	12	6	6	0	0	2	0	2	0	0	0	3	0	3	1	1	3	2	1	1	8	6			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr3:142103391G>T	ENST00000264951.4	-	21	2593	c.2476C>A	c.(2476-2478)Cct>Act	p.P826T	XRN1_ENST00000392981.2_Missense_Mutation_p.P826T	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	826					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAAACAAAAGGAACAACTTGT	0.308													26	89					1.85244e-09	2.02084e-09	1	0	T	142103391	G	T	142103391	3	4	234	1	0	0	0	0	1	0	0	0	17555	1174	41	2	2732	2	XRN1	3	142103391	Missense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08	33329668	142103391	55919039	13	42807											
TBC1D1	23216	broad.mit.edu	37	chr4	38023338	38023338	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctctgtgagaggatagaGggtgagtaggggaccctttc	10	9	16	6	0	1	3	0	2	1	2	2	6	1	5	1	4	1	2	1	4	3	3			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:38023338G>C	ENST00000261439.4	+	6	1564	c.1210_splice	c.e6+1	p.E403_splice	TBC1D1_ENST00000508802.1_Splice_Site_p.E403_splice	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	403	PID.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AGAGGATAGAGGGTGAGTAGG	0.552													3	20					0	0	0	0	C	38023338	G	C	38023338	5	2	234	1	0	0	0	0	0	0	1	0	15688	1014	35	4	1227	4	TBC1D1	4	38023338	Splice_Site	SNP	G	TCGA-CV-5443-01A-01D-1512-08		38023338	153130938	14	42808											
MUC7	4589	broad.mit.edu	37	chr4	71347107	71347107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagaccacagctgccccaCccacacctcctgcaactaca	12	4	5	20	0	0	1	0	0	0	1	1	2	1	1	6	0	5	2	6	0	2	1			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:71347107C>A	ENST00000413702.1	+	4	934	c.646C>A	c.(646-648)Ccc>Acc	p.P216T	MUC7_ENST00000304887.5_Missense_Mutation_p.P216T|MUC7_ENST00000456088.1_Missense_Mutation_p.P216T	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	216	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGCTGCCCCACCCACACCTCC	0.597													4	44					0.150653	0.150653	1	0	A	71347107	C	A	71347107	3	1	234	1	0	0	0	0	1	0	0	0	10051	507	18	4	652	4	MUC7	4	71347107	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08	33323769	71347107	119807169	15	42809											
SMARCAD1	56916	broad.mit.edu	37	chr4	95155227	95155227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagatgctaaacttcagaCtttgaaggaactttttccac	14	13	6	8	0	1	3	1	1	0	2	2	4	2	4	1	1	3	1	1	1	6	6			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:95155227C>T	ENST00000354268.4	+	4	564	c.491C>T	c.(490-492)aCt>aTt	p.T164I	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.T164I			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	164	CUE 1.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		aaacttcagactttgaaggaa	0.373													19	29					0	0	0	0	T	95155227	C	T	95155227	3	4	234	1	0	0	0	0	1	0	0	0	14860	565	20	4	501	4	SMARCAD1	4	95155227	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08	23808120	95155227	95999049	16	42810											
ADH4	127	broad.mit.edu	37	chr4	100062705	100062705	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacctggtttgacgttGgtcactcctggcccaatact	10	12	8	11	1	1	1	1	1	0	0	2	1	2	1	3	3	2	2	3	3	5	4			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:100062705G>T	ENST00000508393.1	-	4	471	c.306C>A	c.(304-306)acC>acA	p.T102T	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Silent_p.T102T|ADH4_ENST00000265512.7_Silent_p.T83T|ADH4_ENST00000505590.1_Silent_p.T102T			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	83					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GTTTGACGTTGGTCACTCCTG	0.398													21	42					0.00395357	0.00412547	1	0	T	100062705	G	T	100062705	2	4	234	1	0	0	0	0	0	0	0	1	310	1335	47	4		4	ADH4	4	100062705	Silent	SNP	G	TCGA-CV-5443-01A-01D-1512-08	4907478	100062705	91091571	17	42811											
BRD9	65980	broad.mit.edu	37	chr5	878568	878568	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatactgaattattctgcatCgaaagcgcagtagtggcact	13	11	9	8	2	1	1	0	1	1	0	2	2	1	1	0	1	3	4	0	1	6	4			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:878568C>T	ENST00000323510.4	-	8	884	c.885G>A	c.(883-885)tcG>tcA	p.S295S	BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000388890.4_Silent_p.S275S|BRD9_ENST00000467963.1_Silent_p.S391S|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000483173.1_Silent_p.S338S			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	391							nucleic acid binding	p.S295S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TATTCTGCATCGAAAGCGCAG	0.567													9	124					0	0	0	0	T	878568	C	T	878568	2	4	234	1	0	0	0	0	0	0	0	1	1515	871	31	1		1	BRD9	5	878568	Silent	SNP	C	TCGA-CV-5443-01A-01D-1512-08		878568	180036692	18	42812											
ADAMTS12	81792	broad.mit.edu	37	chr5	33549375	33549375	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttacagctcatgctcaatggGggaggaatgccggccaggaa	11	7	14	9	1	2	0	2	0	0	0	2	3	2	3	2	5	4	2	2	5	4	1			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:33549375G>A	ENST00000504830.1	-	21	4574	c.4239C>T	c.(4237-4239)ccC>ccT	p.P1413P	ADAMTS12_ENST00000352040.3_Silent_p.P1328P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1413	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1413P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCTCAATGGGGGAGGAATGC	0.612										HNSCC(64;0.19)			24	59					0	0	0	0	A	33549375	G	A	33549375	2	1	234	1	0	0	0	0	0	0	0	1	257	1219	43	4		4	ADAMTS12	5	33549375	Silent	SNP	G	TCGA-CV-5443-01A-01D-1512-08	32670807	33549375	147365885	19	42813											
RAI14	26064	broad.mit.edu	37	chr5	34824125	34824125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggatgcacaaaaagagaaCtctgtctctatcacagaaca	16	8	8	9	0	3	2	1	0	2	2	4	4	3	3	0	1	3	1	0	1	5	1			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:34824125C>T	ENST00000265109.3	+	15	2465	c.2178C>T	c.(2176-2178)aaC>aaT	p.N726N	RAI14_ENST00000515799.1_Silent_p.N729N|RAI14_ENST00000506376.1_Silent_p.N718N|RAI14_ENST00000512629.1_Silent_p.N697N|RAI14_ENST00000397449.1_Silent_p.N719N|RAI14_ENST00000503673.1_Silent_p.N726N|RAI14_ENST00000428746.2_Silent_p.N726N	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	726						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AAAAAGAGAACTCTGTCTCTA	0.408													25	33					0	0	0	0	T	34824125	C	T	34824125	2	4	234	1	0	0	0	0	0	0	0	1	13090	564	20	4		4	RAI14	5	34824125	Silent	SNP	C	TCGA-CV-5443-01A-01D-1512-08	1274750	34824125	146091135	20	42814											
GPRIN1	114787	broad.mit.edu	37	chr5	176024594	176024594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcggccttcggctccaCgcggccttcactgcccctgg	2	8	13	18	4	1	0	1	0	0	0	4	0	2	0	5	5	1	2	5	5	0	2			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:176024594C>T	ENST00000303991.4	-	2	2419	c.2242G>A	c.(2242-2244)Gtg>Atg	p.V748M		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	748						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCGGCTCCACGCGGCCTTCA	0.687													7	19					0	0	0	0	T	176024594	C	T	176024594	3	4	234	1	0	0	0	0	1	0	0	0	6779	536	19	1	788	1	GPRIN1	5	176024594	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08	141200469	176024594	4890666	21	42815											
DOK3	79930	broad.mit.edu	37	chr5	176935517	176935517	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgggcctcctgcatacagCagagcccacaccttccgcca	9	6	9	17	1	0	1	0	0	0	1	2	2	2	1	6	1	4	2	6	1	1	2			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:176935517C>A	ENST00000312943.6	-	3	253	c.93G>T	c.(91-93)ctG>ctT	p.L31L	DOK3_ENST00000501403.2_Silent_p.L31L|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Silent_p.L87L	NM_001144875.1	NP_001138347.1	Q7L591	DOK3_HUMAN	docking protein 3	87						cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CTGCATACAGCAGAGCCCACA	0.677													3	11					0.150653	0.150653	1	0	A	176935517	C	A	176935517	2	1	234	1	0	0	0	0	0	0	0	1	4734	697	25	4		4	DOK3	5	176935517	Silent	SNP	C	TCGA-CV-5443-01A-01D-1512-08	910923	176935517	3979743	22	42816											
CCHCR1	54535	broad.mit.edu	37	chr6	31112526	31112526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtctgagagttgctccCgcagccgagtttccacttca	6	12	10	13	2	2	1	1	1	1	1	4	3	4	1	3	0	2	4	3	0	0	3	rs150749093	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:31112526C>T	ENST00000396268.3	-	15	2293	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	CCHCR1_ENST00000451521.2_Missense_Mutation_p.R666Q|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R560Q|CCHCR1_ENST00000376266.5_Missense_Mutation_p.R613Q	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	613					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GAGTTGCTCCCGCAGCCGAGT	0.597													53	106					0	0	0	0	T	31112526	C	T	31112526	3	4	234	1	0	0	0	0	1	0	0	0	2904	652	23	1	526	1	CCHCR1	6	31112526	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08		31112526	140002541	23	42817											
C4B	721	broad.mit.edu	37	chr6	31997106	31997106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctcatggcaatggcccagGagactggaggtgaggggtga	10	6	17	8	0	1	3	1	2	0	1	1	5	1	4	2	7	0	1	2	7	1	0			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:31997106G>A	ENST00000435363.2	+	28	3751	c.3667G>A	c.(3667-3669)Gag>Aag	p.E1223K	C4B_ENST00000425700.2_Missense_Mutation_p.E1223K	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1223					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										AATGGCCCAGGAGACTGGAGG	0.642													9	55					0	0	0	0	A	31997106	G	A	31997106	3	1	234	1	0	0	0	0	1	0	0	0	2269	1175	41	2		2	C4B	6	31997106	Missense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08	884580	31997106	139117961	24	42818											
KHDC1	80759	broad.mit.edu	37	chr6	73951452	73951452	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttccagcatctccaggcCtgcaaaataagtgcccaggg	11	7	10	13	1	1	0	0	0	1	0	3	0	2	0	4	2	3	3	4	2	3	2			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:73951452C>A	ENST00000370384.3	-	5	1015		c.e5-1		RP11-257K9.8_ENST00000423730.3_Intron|KHDC1_ENST00000257765.5_Splice_Site	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1							integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						ATCTCCAGGCCTGCAAAATAA	0.587													19	42					6.94344e-10	7.66173e-10	1	0	A	73951452	C	A	73951452	5	1	234	1	0	0	0	0	0	0	1	0	8196	695	24	4	203	4	KHDC1	6	73951452	Splice_Site	SNP	C	TCGA-CV-5443-01A-01D-1512-08	41954346	73951452	97163615	25	42819											
PHIP	55023	broad.mit.edu	37	chr6	79697996	79697996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccaatgcagatcttgtaCgataattgtgttgatttgtc	9	17	8	7	1	1	2	0	1	1	1	3	3	2	2	1	0	2	3	1	0	3	7			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:79697996C>T	ENST00000275034.4	-	21	2557	c.2390G>A	c.(2389-2391)cGt>cAt	p.R797H		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	797					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	p.R797H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGATCTTGTACGATAATTGTG	0.338													5	101					0	0	0	0	T	79697996	C	T	79697996	3	4	234	1	0	0	0	0	1	0	0	0	11914	536	19	1	3155	1	PHIP	6	79697996	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08	5746544	79697996	91417071	26	42820											
SLC22A16	85413	broad.mit.edu	37	chr6	110763501	110763509	+	In_Frame_Del	DEL	AAAACGAGT	AAAACGAGT	-																															taagttaacagaattcaaggAaaacgagtagaatcccaaac																								rs149948718	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:110763501_110763509delAAAACGAGT	ENST00000368919.3	-	4	1187_1195	c.1121_1129delACTCGTTTT	c.(1120-1131)tcc>t	p.YSFS374del	SLC22A16_ENST00000330550.4_In_Frame_Del_p.YSFS340del|SLC22A16_ENST00000439654.1_In_Frame_Del_p.YSFS374del	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	374					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GAATTCAAGGAAAACGAGTAGAATCCCAA	0.378													13	76	---	---	---	---					-	110763509	AAAACGAGT	-	110763501	7	5	234	1	0	1	0	1	0	0	0	0	14535	246	9	0	624	0	SLC22A16	6	110763501	In_Frame_Del	DEL	AAAACGAGT	TCGA-CV-5443-01A-01D-1512-08	31065505	110763501	60351566	27	42821											
IFNGR1	3459	broad.mit.edu	37	chr6	137527279	137527279	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacattctactcaccatctcGgcatacagcaaattcttctg	11	12	4	14	1	5	0	1	0	4	0	6	0	5	0	1	1	3	2	1	1	3	5			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:137527279G>A	ENST00000367739.4	-	3	488	c.367C>T	c.(367-369)Cga>Tga	p.R123*	IFNGR1_ENST00000543628.1_Nonsense_Mutation_p.R95*|IFNGR1_ENST00000367735.2_Nonsense_Mutation_p.R113*	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	123					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TCACCATCTCGGCATACAGCA	0.348													7	118					0	0	0	0	A	137527279	G	A	137527279	4	1	234	1	0	0	0	0	0	1	0	0	7602	1124	39	1	1122	1	IFNGR1	6	137527279	Nonsense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08	26763778	137527279	33587788	28	42822											
SYNE1	23345	broad.mit.edu	37	chr6	152763322	152763322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccccttctccctgctgcGcctgcgcgatctgctgctgc	1	10	10	20	3	2	0	0	0	2	0	3	1	2	0	5	0	6	3	5	0	0	1			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:152763322G>A	ENST00000367255.5	-	31	4497	c.3896C>T	c.(3895-3897)gCg>gTg	p.A1299V	SYNE1_ENST00000413186.2_Missense_Mutation_p.A1299V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1306V|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1299V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1299V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1365V|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1289V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1306V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1299					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCCTGCTGCGCCTGCGCGAT	0.567										HNSCC(10;0.0054)			22	91					0	0	0	0	A	152763322	G	A	152763322	3	1	234	1	0	0	0	0	1	0	0	0	15536	1087	38	1	23034	1	SYNE1	6	152763322	Missense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08	15236043	152763322	18351745	29	42823											
C7orf57	136288	broad.mit.edu	37	chr7	48081064	48081064	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggactcggagatactggatAaaagaaacagattcggaata	17	7	12	5	2	0	3	0	0	0	3	2	7	0	6	0	4	2	0	0	4	6	4			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:48081064A>G	ENST00000348904.3	+	3	401	c.189A>G	c.(187-189)atA>atG	p.I63M	C7orf57_ENST00000430738.1_Missense_Mutation_p.I108M|C7orf57_ENST00000420324.1_Missense_Mutation_p.I108M|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000539619.1_Missense_Mutation_p.I63M	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	63										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GATACTGGATAAAAGAAACAG	0.592													13	18					0	0	0	0	G	48081064	A	G	48081064	3	3	234	1	0	0	0	0	1	0	0	0	2427	352	13	5	195	5	C7orf57	7	48081064	Missense_Mutation	SNP	A	TCGA-CV-5443-01A-01D-1512-08		48081064	111057599	30	42824											
RELN	5649	broad.mit.edu	37	chr7	103214639	103214639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgttccacagccagttcCaacctgggcacctgttatct	9	11	8	13	0	1	0	0	0	1	0	3	0	3	0	5	1	2	4	5	1	3	3			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:103214639C>T	ENST00000424685.2	-	30	4570	c.4411G>A	c.(4411-4413)Gga>Aga	p.G1471R	RELN_ENST00000343529.5_Missense_Mutation_p.G1471R|RELN_ENST00000428762.1_Missense_Mutation_p.G1471R			P78509	RELN_HUMAN	reelin	1471					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCCAGTTCCAACCTGGGCA	0.512													8	123					0	0	0	0	T	103214639	C	T	103214639	3	4	234	1	0	0	0	0	1	0	0	0	13302	603	21	4	6115	4	RELN	7	103214639	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08	55133575	103214639	55924024	31	42825											
EPHB6	2051	broad.mit.edu	37	chr7	142563798	142563798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgcctgcctcgggagctgGggggtcgaggggacctgctc	3	6	20	12	3	0	0	0	0	0	0	3	3	0	2	3	7	3	2	3	7	0	0			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:142563798G>A	ENST00000392957.2	+	9	1973	c.1186G>A	c.(1186-1188)Ggg>Agg	p.G396R	EPHB6_ENST00000411471.2_Missense_Mutation_p.G119R|EPHB6_ENST00000442129.1_Missense_Mutation_p.G396R	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	396	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCGGGAGCTGGGGGGTCGAGG	0.652													7	19					0	0	0	0	A	142563798	G	A	142563798	3	1	234	1	0	0	0	0	1	0	0	0	5216	1232	43	4	1204	4	EPHB6	7	142563798	Missense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08	39349159	142563798	16574865	32	42826											
HR	55806	broad.mit.edu	37	chr8	21973915	21973915	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaggaagtgctgagtgacGctgactgtgctcaccaggcc	9	7	15	10	1	1	4	1	3	0	1	1	6	1	5	2	2	2	3	2	2	1	0			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr8:21973915G>A	ENST00000381418.4	-	18	4885	c.3405C>T	c.(3403-3405)agC>agT	p.S1135S	HR_ENST00000312841.8_Silent_p.S1080S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1135	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCTGAGTGACGCTGACTGTGC	0.627													9	26					0	0	0	0	A	21973915	G	A	21973915	2	1	234	1	0	0	0	0	0	0	0	1	7397	1078	38	1		1	HR	8	21973915	Silent	SNP	G	TCGA-CV-5443-01A-01D-1512-08		21973915	124390107	33	42827											
KLF10	7071	broad.mit.edu	37	chr8	103664557	103664557	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcttcaaaatcacttttCtctgcagttttgttccagga	10	15	6	10	0	3	0	2	0	1	0	5	1	4	1	1	1	2	4	1	1	2	6			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr8:103664557C>T	ENST00000395884.3	-	2	974	c.72G>A	c.(70-72)gaG>gaA	p.E24E	KLF10_ENST00000285407.6_Silent_p.E35E	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	35					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			AATCACTTTTCTCTGCAGTTT	0.358													53	130					0	0	0	0	T	103664557	C	T	103664557	2	4	234	1	0	0	0	0	0	0	0	1	8390	912	32	2		2	KLF10	8	103664557	Silent	SNP	C	TCGA-CV-5443-01A-01D-1512-08	81690642	103664557	42699465	34	42828											
GRIN1	2902	broad.mit.edu	37	chr9	140058119	140058119	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacttttgagaacatggcCggtgcgttctccttcatcca	7	14	8	12	2	2	1	1	1	1	1	4	2	3	1	3	2	3	1	3	2	2	5			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr9:140058119C>G	ENST00000371561.3	+	17	3539	c.2443_splice	c.e17+1	p.A814_splice	GRIN1_ENST00000315048.3_Splice_Site_p.A814_splice|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371550.4_Splice_Site_p.A814_splice|GRIN1_ENST00000371546.4_Splice_Site_p.A835_splice|GRIN1_ENST00000371553.3_Splice_Site_p.A835_splice|GRIN1_ENST00000371555.4_Splice_Site_p.A835_splice|GRIN1_ENST00000371559.4_Splice_Site_p.A814_splice|GRIN1_ENST00000371560.3_Splice_Site_p.A835_splice|GRIN1_ENST00000350902.5_Splice_Site_p.A814_splice	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	814					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	AGAACATGGCCGGTGCGTTCT	0.597													13	40					0	0	0	0	G	140058119	C	G	140058119	5	3	234	1	0	0	0	0	0	0	1	0	6828	666	23	3	2575	3	GRIN1	9	140058119	Splice_Site	SNP	C	TCGA-CV-5443-01A-01D-1512-08		140058119	1155312	35	42829											
SUV39H2	79723	broad.mit.edu	37	chr10	14923625	14923625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgaggtggaatacttgtGtgactacaaggtagtaaagg	13	12	13	3	0	0	2	0	2	0	0	0	3	0	3	0	4	2	2	0	4	8	6			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:14923625G>A	ENST00000378325.3	+	2	184	c.158G>A	c.(157-159)tGt>tAt	p.C53Y	SUV39H2_ENST00000313519.5_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.C53Y	NM_001193426.1|NM_001193427.1	NP_001180355.1|NP_001180356.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	53	Chromo.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						GAATACTTGTGTGACTACAAG	0.338													5	106					0	0	0	0	A	14923625	G	A	14923625	3	1	234	1	0	0	0	0	1	0	0	0	15503	1392	48	4		4	SUV39H2	10	14923625	Missense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08		14923625	120611122	36	42830											
PTCHD3	374308	broad.mit.edu	37	chr10	27702649	27702649	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgccgctccgccttggcCgggctccccacaggggtgta	5	6	14	16	4	0	0	0	0	0	0	2	0	2	0	6	4	1	3	6	4	2	2			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:27702649C>T	ENST00000438700.3	-	1	648	c.531G>A	c.(529-531)ccG>ccA	p.P177P		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	177					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCGCCTTGGCCGGGCTCCCCA	0.637													44	150					0	0	0	0	T	27702649	C	T	27702649	2	4	234	1	0	0	0	0	0	0	0	1	12813	639	23	1		1	PTCHD3	10	27702649	Silent	SNP	C	TCGA-CV-5443-01A-01D-1512-08	12779024	27702649	107832098	37	42831											
AGAP11	119385	broad.mit.edu	37	chr10	88767686	88767686	+	RNA	DEL	T	T	-																															caaacaacagaaaatgtatcTtttttttttttttttttttg																								rs71019446		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:88767686delT	ENST00000444431.1	+	0	2711				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AAAATGTATCttttttttttt	0.413													2	4	---	---	---	---					-	88767686	T	-	88767686	6	5	234	0	1	1	0	1	0	0	0	0	367	1624	56	0		0	AGAP11	10	88767686	RNA	DEL	T	TCGA-CV-5443-01A-01D-1512-08	61065037	88767686	46767061	38	42832											
KNDC1	85442	broad.mit.edu	37	chr10	135003312	135003312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaggagaggctggtaactGaaaaggtacccgggccctcc	11	5	14	11	1	0	3	0	1	0	2	1	4	1	3	3	5	2	3	3	5	4	2			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:135003312G>A	ENST00000304613.3	+	9	1591	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	KNDC1_ENST00000368571.2_Missense_Mutation_p.E459K|KNDC1_ENST00000368572.2_Missense_Mutation_p.E524K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	524	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCTGGTAACTGAAAAGGTACC	0.642													5	25					0	0	0	0	A	135003312	G	A	135003312	3	1	234	1	0	0	0	0	1	0	0	0	8478	1291	45	2	1604	2	KNDC1	10	135003312	Missense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08	46235626	135003312	531435	39	42833											
OR51G1	79324	broad.mit.edu	37	chr11	4944867	4944867	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgagggctcggagtcgctCctggtgggaggcaatgctga	6	9	18	8	2	0	2	0	2	0	0	3	4	1	4	1	5	1	5	1	5	1	1			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:4944867C>A	ENST00000321961.2	-	1	770	c.703G>T	c.(703-705)Gag>Tag	p.E235*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGAGTCGCTCCTGGTGGGAG	0.552													26	68					3.69857e-22	4.22693e-22	1	0	A	4944867	C	A	4944867	4	1	234	1	0	0	0	0	0	1	0	0	11169	864	30	2	264	2	OR51G1	11	4944867	Nonsense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08		4944867	130061649	40	42834											
BTBD10	84280	broad.mit.edu	37	chr11	13410506	13410506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggtcctggggaatgtCtgctgcagctgctgcaagat	7	10	14	10	0	1	1	0	0	1	1	2	2	2	2	1	3	6	6	1	3	2	0			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:13410506C>A	ENST00000278174.5	-	9	1545	c.1300G>T	c.(1300-1302)Gac>Tac	p.D434Y	BTBD10_ENST00000528120.1_Missense_Mutation_p.D386Y|BTBD10_ENST00000530907.1_Missense_Mutation_p.D442Y	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	434						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGGGGAATGTCTGCTGCAGCT	0.488													48	77					2.6635e-43	3.08068e-43	1	0	A	13410506	C	A	13410506	3	1	234	1	0	0	0	0	1	0	0	0	1546	913	32	2	131	2	BTBD10	11	13410506	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08	8465639	13410506	121596010	41	42835											
MS4A15	219995	broad.mit.edu	37	chr11	60531293	60531293	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacctccggccattctGcccacatccatgtgccaacc	7	8	6	20	1	1	0	0	0	1	0	3	0	3	0	8	1	4	0	8	1	1	1			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:60531293G>T	ENST00000405633.3	+	2	166	c.87G>T	c.(85-87)ctG>ctT	p.L29L	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Silent_p.L29L	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	29						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CGGCCATTCTGCCCACATCCA	0.617													37	88					1.00953e-15	1.14017e-15	1	0	T	60531293	G	T	60531293	2	4	234	1	0	0	0	0	0	0	0	1	9929	1306	46	4		4	MS4A15	11	60531293	Silent	SNP	G	TCGA-CV-5443-01A-01D-1512-08	47120787	60531293	74475223	42	42836											
SCYL1	57410	broad.mit.edu	37	chr11	65303482	65303482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactagggacccgtttgcacCgtcccgggttgcgggtgtcc	4	9	14	14	4	0	0	0	0	0	0	2	1	2	1	4	3	2	3	4	3	1	3			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:65303482C>A	ENST00000524944.1	+	11	1478	c.1445C>A	c.(1444-1446)cCg>cAg	p.P482Q	SCYL1_ENST00000270176.5_Missense_Mutation_p.P482Q|SCYL1_ENST00000420247.2_Missense_Mutation_p.P482Q|SCYL1_ENST00000527630.1_Missense_Mutation_p.P482Q|SCYL1_ENST00000527009.1_Missense_Mutation_p.P339Q|SCYL1_ENST00000525364.1_Missense_Mutation_p.P482Q|SCYL1_ENST00000533862.1_Missense_Mutation_p.P482Q|SCYL1_ENST00000279270.6_Missense_Mutation_p.P482Q			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	482					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CCGTTTGCACCGTCCCGGGTT	0.597													18	63					4.72057e-08	5.03528e-08	1	0	A	65303482	C	A	65303482	3	1	234	1	0	0	0	0	1	0	0	0	14034	652	23	3	1487	3	SCYL1	11	65303482	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08	4772189	65303482	69703034	43	42837											
RCE1	9986	broad.mit.edu	37	chr11	66612399	66612399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcggaaccaagtgatcGccccgctgacagaggagctg	9	5	15	12	3	0	3	0	2	0	1	1	5	0	5	3	3	3	3	3	3	2	0			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:66612399G>A	ENST00000309657.3	+	5	555	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	RCE1_ENST00000525356.1_Missense_Mutation_p.A48T|RCE1_ENST00000524506.1_Missense_Mutation_p.A171T	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	171					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCAAGTGATCGCCCCGCTGAC	0.632													15	28					0	0	0	0	A	66612399	G	A	66612399	3	1	234	1	0	0	0	0	1	0	0	0	13258	1087	38	1	529	1	RCE1	11	66612399	Missense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08	1308917	66612399	68394117	44	42838											
SYTL2	54843	broad.mit.edu	37	chr11	85420460	85420460	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccttcagtgactccacAtattcaattgcaaactgaat	14	12	4	11	0	2	2	2	2	0	0	4	2	4	2	2	0	3	1	2	0	5	4			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:85420460A>G	ENST00000359152.5	-	6	4451	c.4452T>C	c.(4450-4452)taT>taC	p.Y1484Y	SYTL2_ENST00000528231.1_Silent_p.Y638Y|SYTL2_ENST00000527523.1_Silent_p.Y606Y|SYTL2_ENST00000524452.1_Silent_p.Y614Y|SYTL2_ENST00000389960.4_Silent_p.Y614Y|SYTL2_ENST00000316356.4_Silent_p.Y639Y|SYTL2_ENST00000525423.1_Silent_p.Y960Y|SYTL2_ENST00000529581.1_Silent_p.Y80Y|SYTL2_ENST00000354566.3_Silent_p.Y976Y|SYTL2_ENST00000533892.1_Silent_p.Y40Y|SYTL2_ENST00000525702.1_Silent_p.Y80Y|SYTL2_ENST00000389958.3_Silent_p.Y69Y	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	638					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTGACTCCACATATTCAATTG	0.408													6	121					0	0	0	0	G	85420460	A	G	85420460	2	3	234	1	0	0	0	0	0	0	0	1	15574	224	8	5		5	SYTL2	11	85420460	Silent	SNP	A	TCGA-CV-5443-01A-01D-1512-08	18808061	85420460	49586056	45	42839											
FOLH1B	219595	broad.mit.edu	37	chr11	89409121	89409121	+	RNA	DEL	C	C	-																															ttattgaaattctttcaaagCagctcttttatgagaatttc																								rs111654563		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:89409121delC	ENST00000532352.1	+	0	1197							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TCTTTCAAAGCAGCTCTTTTA	0.294													3	5	---	---	---	---					-	89409121	C	-	89409121	6	5	234	0	1	1	0	1	0	0	0	0	6025	725	25	0		0	FOLH1B	11	89409121	RNA	DEL	C	TCGA-CV-5443-01A-01D-1512-08	3988661	89409121	45597395	46	42840											
UBE4A	9354	broad.mit.edu	37	chr11	118263536	118263536	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcccattatgagcacactGatgtgtgaccctgtggtgct	8	12	11	10	0	0	3	0	3	0	0	1	4	1	3	2	1	2	2	2	1	1	1			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:118263536G>A	ENST00000252108.3	+	19	3131	c.3000G>A	c.(2998-3000)ctG>ctA	p.L1000L	UBE4A_ENST00000431736.2_Silent_p.L1007L|UBE4A_ENST00000545354.1_Silent_p.L472L	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1000	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGAGCACACTGATGTGTGACC	0.483													56	86					0	0	0	0	A	118263536	G	A	118263536	2	1	234	1	0	0	0	0	0	0	0	1	16978	1277	45	2		2	UBE4A	11	118263536	Silent	SNP	G	TCGA-CV-5443-01A-01D-1512-08	28854415	118263536	16742980	47	42841											
MLF2	8079	broad.mit.edu	37	chr12	6859160	6859160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatcccgaacagtcctcCgtgtctcccggatctgggat	7	10	10	14	3	2	1	0	1	2	0	6	4	5	3	4	2	1	0	4	2	2	0			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:6859160C>T	ENST00000203630.5	-	7	1057	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	MLF2_ENST00000542154.1_Missense_Mutation_p.R138Q|MLF2_ENST00000435120.1_Missense_Mutation_p.R138Q|MLF2_ENST00000539187.1_Missense_Mutation_p.R138Q			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	138					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						AACAGTCCTCCGTGTCTCCCG	0.582													15	64					0	0	0	0	T	6859160	C	T	6859160	3	4	234	1	0	0	0	0	1	0	0	0	9685	652	23	1	341	1	MLF2	12	6859160	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08		6859160	126992735	48	42842											
LRP6	4040	broad.mit.edu	37	chr12	12334328	12334328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgtatccaaagaaatgCgtctcaagtctgtccttcga	10	12	9	10	2	2	1	1	0	2	1	6	2	4	1	2	1	1	1	2	1	4	2			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:12334328C>T	ENST00000261349.4	-	6	1098	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	LRP6_ENST00000543091.1_Missense_Mutation_p.R341H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	341	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.R341H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CAAAGAAATGCGTCTCAAGTC	0.403													34	81					0	0	0	0	T	12334328	C	T	12334328	3	4	234	1	0	0	0	0	1	0	0	0	9026	768	27	1	3891	1	LRP6	12	12334328	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08	5475168	12334328	121517567	49	42843											
PTPRO	5800	broad.mit.edu	37	chr12	15699542	15699542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcttcgcagtgaacaaaaCccagacttcagtgactttgc	12	10	7	12	1	2	3	1	2	1	1	3	3	2	3	1	0	3	1	1	0	3	3			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:15699542C>A	ENST00000281171.4	+	13	2534	c.2204C>A	c.(2203-2205)aCc>aAc	p.T735N	PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000445537.2_5'UTR|PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000442921.2_5'UTR|PTPRO_ENST00000348962.2_Missense_Mutation_p.T735N	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	735	Fibronectin type-III 8.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GTGAACAAAACCCAGACTTCA	0.388													5	21					0.000602214	0.000635303	1	0	A	15699542	C	A	15699542	3	1	234	1	0	0	0	0	1	0	0	0	12891	507	18	4	2254	4	PTPRO	12	15699542	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08	3365214	15699542	118152353	50	42844											
KRT83	3889	broad.mit.edu	37	chr12	52710276	52710276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttggcattctccacctcGgctgtcagcctctggatcat	6	12	8	15	1	4	0	2	0	2	0	6	1	4	1	3	3	1	2	3	3	0	2	rs143467763	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:52710276G>A	ENST00000293670.3	-	6	1079	c.1017C>T	c.(1015-1017)gcC>gcT	p.A339A		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	339	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTCCACCTCGGCTGTCAGCC	0.597													33	50					0	0	0	0	A	52710276	G	A	52710276	2	1	234	1	0	0	0	0	0	0	0	1	8549	1103	39	1		1	KRT83	12	52710276	Silent	SNP	G	TCGA-CV-5443-01A-01D-1512-08	37010734	52710276	81141619	51	42845											
ZCCHC8	55596	broad.mit.edu	37	chr12	122975114	122975114	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctatttcttgatgatattgCctgtgtaagaggacaaaatg	12	15	9	5	0	2	3	0	2	2	1	2	4	2	4	1	1	1	1	1	1	5	6			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:122975114C>T	ENST00000336229.4	-	4	448	c.317_splice	c.e4-1	p.K106_splice	ZCCHC8_ENST00000536306.1_5'UTR|ZCCHC8_ENST00000543897.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	106						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GATGATATTGCCTGTGTAAGA	0.328													5	10					0	0	0	0	T	122975114	C	T	122975114	5	4	234	1	0	0	0	0	0	0	1	0	17689	753	26	4	1849	4	ZCCHC8	12	122975114	Splice_Site	SNP	C	TCGA-CV-5443-01A-01D-1512-08	70264838	122975114	10876781	52	42846											
FREM2	341640	broad.mit.edu	37	chr13	39265211	39265211	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatcatgaatcagctgataAatggcacggttttggtcgaa	13	11	10	7	2	2	2	2	2	0	0	3	3	2	2	0	3	1	3	0	3	4	3			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr13:39265211A>T	ENST00000280481.7	+	1	3946	c.3730A>T	c.(3730-3732)Aat>Tat	p.N1244Y		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1244					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCAGCTGATAAATGGCACGGT	0.438													65	179					0	0	0	0	T	39265211	A	T	39265211	3	4	234	1	0	0	0	0	1	0	0	0	6093	14	1	5	3732	5	FREM2	13	39265211	Missense_Mutation	SNP	A	TCGA-CV-5443-01A-01D-1512-08		39265211	75904667	53	42847											
UCHL3	7347	broad.mit.edu	37	chr13	76134943	76134943	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattcgttgatgtatatggaAtggatcctgaactccttagc	11	14	9	7	1	0	2	0	2	0	0	3	4	2	4	2	2	2	2	2	2	6	5			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr13:76134943A>G	ENST00000377595.3	+	3	139	c.109A>G	c.(109-111)Atg>Gtg	p.M37V	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.3	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	37					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		TGTATATGGAATGGATCCTGA	0.338													25	75					0	0	0	0	G	76134943	A	G	76134943	3	3	234	1	0	0	0	0	1	0	0	0	17017	101	4	5	119	5	UCHL3	13	76134943	Missense_Mutation	SNP	A	TCGA-CV-5443-01A-01D-1512-08	36869732	76134943	39034935	54	42848											
CMTM5	116173	broad.mit.edu	37	chr14	23846483	23846483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcagtgctcgagatcgccGggaccggcaccctgaggagg	7	5	16	13	4	1	2	1	1	0	1	3	5	1	4	3	4	1	3	3	4	0	0			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:23846483G>A	ENST00000359320.3	+	1	467	c.23G>A	c.(22-24)cGg>cAg	p.R8Q	CMTM5_ENST00000342473.4_Missense_Mutation_p.R8Q|CMTM5_ENST00000339180.4_Missense_Mutation_p.R8Q|CMTM5_ENST00000555731.1_Missense_Mutation_p.R8Q|CMTM5_ENST00000382809.2_Missense_Mutation_p.R8Q|CMTM5_ENST00000397227.3_Missense_Mutation_p.R8Q	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	8					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CGAGATCGCCGGGACCGGCAC	0.607													26	77					0	0	0	0	A	23846483	G	A	23846483	3	1	234	1	0	0	0	0	1	0	0	0	3616	1116	39	1	25	1	CMTM5	14	23846483	Missense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08		23846483	83503057	55	42849											
ADAM20	8748	broad.mit.edu	37	chr14	70989374	70989374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taataaaaaagcaaccaaagGaagaaggcacaatagtgaca	23	4	8	6	0	0	2	0	1	0	1	0	3	0	3	1	2	2	2	1	2	10	3			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:70989374G>A	ENST00000256389.3	-	2	2495	c.2251C>T	c.(2251-2253)Cct>Tct	p.P751S	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	701					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GCAACCAAAGGAAGAAGGCAC	0.383													36	74					0	0	0	0	A	70989374	G	A	70989374	3	1	234	1	0	0	0	0	1	0	0	0	242	1174	41	2	83	2	ADAM20	14	70989374	Missense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08	47142891	70989374	36360166	56	42850											
BTBD7	55727	broad.mit.edu	37	chr14	93760396	93760396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtaatatcactgttgcatAtttttttggtataatggact	10	19	8	4	0	1	0	1	0	0	0	1	1	1	1	0	2	1	4	0	2	5	9			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:93760396A>G	ENST00000334746.5	-	3	1277	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	BTBD7_ENST00000393170.2_5'UTR|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.Y324H|BTBD7_ENST00000555525.1_Missense_Mutation_p.Y324H	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	324	BTB 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTGTTGCATATTTTTTTGGT	0.418													3	69					0	0	0	0	G	93760396	A	G	93760396	3	3	234	1	0	0	0	0	1	0	0	0	1555	449	16	5	2539	5	BTBD7	14	93760396	Missense_Mutation	SNP	A	TCGA-CV-5443-01A-01D-1512-08	22771022	93760396	13589144	57	42851											
AKT1	207	broad.mit.edu	37	chr14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgccaggtcttgatgtactCccctacagacgtgcgggtgg	6	9	13	13	3	1	2	0	1	1	1	2	2	2	2	4	3	3	1	4	3	2	3	rs34409589		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).		activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"breast, colorectal, ovarian, NSCLC"								8	19					0	0	0	0	T	105246551	C	T	105246551	3	4	234	1	0	0	0	0	1	0	0	0	478	864	30	2	1441	2	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08	11486155	105246551	2102989	58	42852											
OR4N4	283694	broad.mit.edu	37	chr15	22383350	22383350	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatacccttcgcaaccaggAagtgaaaacttccatgaaga	15	9	7	10	1	0	3	0	2	0	1	2	4	1	4	3	1	3	1	3	1	7	4			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:22383350A>G	ENST00000328795.4	+	1	969	c.878A>G	c.(877-879)gAa>gGa	p.E293G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CGCAACCAGGAAGTGAAAACT	0.408													16	140					0	0	0	0	G	22383350	A	G	22383350	3	3	234	1	0	0	0	0	1	0	0	0	11149	246	9	5	880	5	OR4N4	15	22383350	Missense_Mutation	SNP	A	TCGA-CV-5443-01A-01D-1512-08		22383350	80148042	59	42853											
MAP1A	4130	broad.mit.edu	37	chr15	43821897	43821897	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccctgtatatgtggatctCgcctacatcccgaatcattg	8	12	8	13	2	2	0	1	0	1	0	4	2	3	1	4	1	1	1	4	1	4	4			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:43821897C>T	ENST00000382031.1	+	6	8830	c.8799C>T	c.(8797-8799)ctC>ctT	p.L2933L	MAP1A_ENST00000399453.1_Silent_p.L2695L|MAP1A_ENST00000300231.5_Silent_p.L2695L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2695						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATGTGGATCTCGCCTACATCC	0.517													28	89					0	0	0	0	T	43821897	C	T	43821897	2	4	234	1	0	0	0	0	0	0	0	1	9296	871	31	1		1	MAP1A	15	43821897	Silent	SNP	C	TCGA-CV-5443-01A-01D-1512-08	21438547	43821897	58709495	60	42854											
MYO9A	4649	broad.mit.edu	37	chr15	72186069	72186071	+	In_Frame_Del	DEL	TCT	TCT	-																															caggtttccatgctggttcaTcttctttatggagttgagga																								rs150726107	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:72186069_72186071delTCT	ENST00000356056.5	-	26	5563_5565	c.5091_5093delAGA	c.(5089-5094)gat>ga	p.ED1697del	MYO9A_ENST00000444904.1_In_Frame_Del_p.ED1678del|MYO9A_ENST00000564571.1_In_Frame_Del_p.ED1697del|MYO9A_ENST00000424560.1_In_Frame_Del_p.ED1697del|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1697	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCTGGTTCATCTTCTTTATGGA	0.355													20	55	---	---	---	---					-	72186071	TCT	-	72186069	7	5	234	1	0	1	0	1	0	0	0	0	10154	1435	50	0	2621	0	MYO9A	15	72186069	In_Frame_Del	DEL	TCT	TCGA-CV-5443-01A-01D-1512-08	28364172	72186069	30345323	61	42855											
SEPHS2	22928	broad.mit.edu	37	chr16	30455654	30455654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactcttgagaaccatccgtGattgtggacaatggctctaa	12	11	9	9	1	2	2	0	2	2	1	3	4	3	3	2	2	2	1	2	2	4	3			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr16:30455654G>A	ENST00000478753.2	-	1	1848	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	SEPHS2_ENST00000542752.1_3'UTR			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	0					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AACCATCCGTGATTGTGGACA	0.473													17	30					0	0	0	0	A	30455654	G	A	30455654	2	1	234	1	0	0	0	0	0	0	0	1	14142	1305	45	2		2	SEPHS2	16	30455654	Silent	SNP	G	TCGA-CV-5443-01A-01D-1512-08		30455654	59899099	62	42856											
LPCAT2	54947	broad.mit.edu	37	chr16	55579722	55579722	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaataaagtccggaatttaAtggcagagtaagtgtctata	15	11	9	6	1	1	1	0	0	1	1	2	2	2	2	2	2	0	2	2	2	8	6			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr16:55579722A>G	ENST00000262134.5	+	9	1112	c.928A>G	c.(928-930)Atg>Gtg	p.M310V		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	310					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CCGGAATTTAATGGCAGAGTA	0.299													7	77					0	0	0	0	G	55579722	A	G	55579722	3	3	234	1	0	0	0	0	1	0	0	0	8975	101	4	5	962	5	LPCAT2	16	55579722	Missense_Mutation	SNP	A	TCGA-CV-5443-01A-01D-1512-08	25124068	55579722	34775031	63	42857											
SMYD4	114826	broad.mit.edu	37	chr17	1704289	1704289	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttctggatacccatgtgtCtgtgctctgttaatgtcttt	5	19	8	9	0	4	0	0	0	4	0	4	1	4	1	1	1	2	2	1	1	2	4			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:1704289C>T	ENST00000305513.7	-	5	566	c.399G>A	c.(397-399)caG>caA	p.Q133Q		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	133							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						ACCCATGTGTCTGTGCTCTGT	0.443													53	155					0	0	0	0	T	1704289	C	T	1704289	2	4	234	1	0	0	0	0	0	0	0	1	14912	912	32	2		2	SMYD4	17	1704289	Silent	SNP	C	TCGA-CV-5443-01A-01D-1512-08		1704289	79490921	64	42858											
DNAH9	1770	broad.mit.edu	37	chr17	11778325	11778325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgatggatgatgctgaCgtggctgcctggcagaacga	9	9	15	8	2	0	4	0	3	0	1	0	6	0	5	1	3	4	4	1	3	1	0			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:11778325C>T	ENST00000262442.3	+	53	10370	c.10302C>T	c.(10300-10302)gaC>gaT	p.D3434D	DNAH9_ENST00000454412.2_Silent_p.D3434D|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3434	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGATGCTGACGTGGCTGCCT	0.592													35	83					0	0	0	0	T	11778325	C	T	11778325	2	4	234	1	0	0	0	0	0	0	0	1	4644	535	19	1		1	DNAH9	17	11778325	Silent	SNP	C	TCGA-CV-5443-01A-01D-1512-08	10074036	11778325	69416885	65	42859											
SUPT6H	6830	broad.mit.edu	37	chr17	27015218	27015218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttcctcaagatcgacaCggcctccctgggggacaggt	7	8	13	13	2	1	1	1	0	0	1	4	3	3	2	3	5	0	1	3	5	1	1			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:27015218C>T	ENST00000314616.6	+	24	3399	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	SUPT6H_ENST00000347486.4_Missense_Mutation_p.T1039M	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1039					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AAGATCGACACGGCCTCCCTG	0.577													54	168					0	0	0	0	T	27015218	C	T	27015218	3	4	234	1	0	0	0	0	1	0	0	0	15490	536	19	1	3206	1	SUPT6H	17	27015218	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08	15236893	27015218	54179992	66	42860											
KRT13	3860	broad.mit.edu	37	chr17	39658663	39658663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggctgcggtaggtggCgatctcctgctccagacgtg	6	8	16	11	3	1	1	0	0	1	1	3	3	2	1	2	4	3	4	2	4	1	1			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:39658663C>T	ENST00000246635.3	-	6	1253	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	KRT13_ENST00000336861.3_Missense_Mutation_p.A403T|KRT13_ENST00000587544.1_Missense_Mutation_p.A403T	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	403	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CGGTAGGTGGCGATCTCCTGC	0.597													48	103					0	0	0	0	T	39658663	C	T	39658663	3	4	234	1	0	0	0	0	1	0	0	0	8502	768	27	1	181	1	KRT13	17	39658663	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08	12643445	39658663	41536547	67	42861											
CBX8	57332	broad.mit.edu	37	chr17	77769025	77769025	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcgcttcttcgagctgtcCcccggtgagctgggcttgtc	2	12	12	15	3	1	1	0	1	1	0	5	2	2	1	3	2	2	4	3	2	0	3			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:77769025C>T	ENST00000269385.4	-	5	696	c.579G>A	c.(577-579)ggG>ggA	p.G193G		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	193					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCGAGCTGTCCCCCGGTGAGC	0.662													3	19					0	0	0	0	T	77769025	C	T	77769025	2	4	234	1	0	0	0	0	0	0	0	1	2749	632	22	4		4	CBX8	17	77769025	Silent	SNP	C	TCGA-CV-5443-01A-01D-1512-08	38110362	77769025	3426185	68	42862											
LIPG	9388	broad.mit.edu	37	chr18	47110036	47110036	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagggggcctctcagtcttGgtacaacctgtggaaggagt	8	9	16	8	0	2	0	1	0	2	0	3	3	2	3	2	6	2	1	2	6	3	2			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr18:47110036G>A	ENST00000261292.4	+	8	1546	c.1268G>A	c.(1267-1269)tGg>tAg	p.W423*	LIPG_ENST00000427224.2_Nonsense_Mutation_p.W349*	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	423	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TCTCAGTCTTGGTACAACCTG	0.582													24	73					0	0	0	0	A	47110036	G	A	47110036	4	1	234	1	0	0	0	0	0	1	0	0	8878	1357	47	4	1298	4	LIPG	18	47110036	Nonsense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08		47110036	30967212	69	42863											
NOTCH3	4854	broad.mit.edu	37	chr19	15302992	15302992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtcgcttcggcagctgCggccctggtagccaggtggg	4	7	16	14	4	0	0	0	0	0	0	2	0	0	0	3	5	3	4	3	5	1	2			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr19:15302992C>T	ENST00000263388.2	-	4	533	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	153	EGF-like 3.		Missing (in CADASIL).|R -> C (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCGGCAGCTGCGGCCCTGGTA	0.687													12	23					0	0	0	0	T	15302992	C	T	15302992	3	4	234	1	0	0	0	0	1	0	0	0	10620	768	27	1	6627	1	NOTCH3	19	15302992	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08		15302992	43825991	70	42864											
ZNF845	91664	broad.mit.edu	37	chr19	53854765	53854765	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatgattgtggcaagacCttcagtcaggagttaaccct	11	12	10	8	0	2	2	2	1	0	1	2	3	2	3	2	2	1	3	2	2	3	4			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr19:53854765C>A	ENST00000458035.1	+	4	954	c.837C>A	c.(835-837)acC>acA	p.T279T	ZNF845_ENST00000595091.1_Silent_p.T279T	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTGGCAAGACCTTCAGTCAGG	0.423													18	58					2.48551e-13	2.77452e-13	1	0	A	53854765	C	A	53854765	2	1	234	1	0	0	0	0	0	0	0	1	18284	668	24	4		4	ZNF845	19	53854765	Silent	SNP	C	TCGA-CV-5443-01A-01D-1512-08	38551773	53854765	5274218	71	42865											
TGM3	7053	broad.mit.edu	37	chr20	2297758	2297758	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttgctgggaattggagCggcacttacaccggtggccg	6	9	16	10	3	0	0	0	0	0	0	0	2	0	2	2	5	4	3	2	5	2	3			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr20:2297758C>T	ENST00000381458.5	+	6	777	c.714C>T	c.(712-714)agC>agT	p.S238S	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	238					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGAATTGGAGCGGCACTTACA	0.532													32	91					0	0	0	0	T	2297758	C	T	2297758	2	4	234	1	0	0	0	0	0	0	0	1	15925	767	27	1		1	TGM3	20	2297758	Silent	SNP	C	TCGA-CV-5443-01A-01D-1512-08		2297758	60727762	72	42866											
PRPF6	24148	broad.mit.edu	37	chr20	62631039	62631039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctggattgcatcagcccGcctggaagaagtcactggga	10	7	13	11	1	2	1	2	0	0	1	2	4	2	4	3	3	3	1	3	3	2	1			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr20:62631039G>A	ENST00000535781.1	+	8	1061	c.950G>A	c.(949-951)cGc>cAc	p.R317H	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	317					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GCATCAGCCCGCCTGGAAGAA	0.557													20	28					0	0	0	0	A	62631039	G	A	62631039	3	1	234	1	0	0	0	0	1	0	0	0	12654	1087	38	1	980	1	PRPF6	20	62631039	Missense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08	60333281	62631039	394481	73	42867											
BAGE2	85319	broad.mit.edu	37	chr21	11056427	11056427	+	RNA	DEL	G	G	-																															gtctggaattacatatttttGgggggtctctctattatctt																								rs137953514		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr21:11056427delG	ENST00000470054.1	-	0	487									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		acatatttttggggggtctct	0.303													3	4	---	---	---	---					-	11056427	G	-	11056427	6	5	234	0	1	1	0	1	0	0	0	0	1296	1363	47	0		0	BAGE2	21	11056427	RNA	DEL	G	TCGA-CV-5443-01A-01D-1512-08		11056427	37073468	74	42868											
BAGE2	85319	broad.mit.edu	37	chr21	11067986	11067986	+	RNA	DEL	C	C	-																															aacagaagaatactcagcttCttaaaagttttatttcaaga																								rs112970011		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr21:11067986delC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACTCAGCTTCTTAAAAGTTT	0.299													2	4	---	---	---	---					-	11067986	C	-	11067986	6	5	234	0	1	1	0	1	0	0	0	0	1296	928	32	0		0	BAGE2	21	11067986	RNA	DEL	C	TCGA-CV-5443-01A-01D-1512-08	11559	11067986	37061909	75	42869											
BAGE2	85319	broad.mit.edu	37	chr21	11090317	11090318	+	RNA	DEL	AA	AA	-																															acagagtgagactgcatctcAaaaaaaaaaaaaaatagtgt																								rs147784248		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr21:11090317_11090318delAA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		actgcatctcaaaaaaaaaaaa	0.45													2	4	---	---	---	---					-	11090318	AA	-	11090317	6	5	234	0	1	1	0	1	0	0	0	0	1296	145	5	0		0	BAGE2	21	11090317	RNA	DEL	AA	TCGA-CV-5443-01A-01D-1512-08	22331	11090317	37039578	76	42870											
ELFN2	114794	broad.mit.edu	37	chr22	37769728	37769728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtcggcgctcagctggCgctgtagtgggtggtgggag	3	8	20	10	5	1	0	1	0	0	0	2	1	1	1	1	5	1	4	1	5	1	1			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr22:37769728C>T	ENST00000402918.1	-	3	2632	c.1847G>A	c.(1846-1848)cGc>cAc	p.R616H	ELFN2_ENST00000349653.3_Missense_Mutation_p.R616H|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	616						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCTCAGCTGGCGCTGTAGTGG	0.682													7	8					0	0	0	0	T	37769728	C	T	37769728	3	4	234	1	0	0	0	0	1	0	0	0	5096	768	27	1	619	1	ELFN2	22	37769728	Missense_Mutation	SNP	C	TCGA-CV-5443-01A-01D-1512-08		37769728	13534838	77	42871											
ASMT	438	broad.mit.edu	37	chrX	1755398	1755398	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccagggtcctccatgactgGgcagacggaaagtgctcaca	10	6	13	12	1	1	2	1	1	0	1	3	3	3	3	3	3	1	2	3	3	1	0			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chrX:1755398G>C	ENST00000381241.3	+	8	1054	c.855G>C	c.(853-855)tgG>tgC	p.W285C	ASMT_ENST00000381233.3_Missense_Mutation_p.W210C|ASMT_ENST00000381229.4_Missense_Mutation_p.W257C	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	257					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCATGACTGGGCAGACGGAA	0.567													56	143					0	0	0	0	C	1755398	G	C	1755398	3	2	234	1	0	0	0	0	1	0	0	0	1049	1241	43	4	885	4	ASMT	23	1755398	Missense_Mutation	SNP	G	TCGA-CV-5443-01A-01D-1512-08		1755398	153515162	78	42872											
ARMCX5	64860	broad.mit.edu	37	chrX	101857876	101857876	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttgaccaagatcccaccTtatcatgggccttattacca	10	12	5	14	0	1	2	1	1	0	1	2	2	2	2	6	1	1	0	6	1	4	4			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chrX:101857876T>G	ENST00000604957.1	+	1	3429	c.807T>G	c.(805-807)ccT>ccG	p.P269P	ARMCX5_ENST00000537008.1_Silent_p.P269P|ARMCX5_ENST00000246174.2_Silent_p.P269P|ARMCX5_ENST00000536530.1_Silent_p.P269P|RP4-769N13.7_ENST00000602441.1_RNA|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000541409.1_Silent_p.P269P|ARMCX5_ENST00000372742.1_Silent_p.P269P	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	269							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AGATCCCACCTTATCATGGGC	0.488													45	42					0	0	0	0	G	101857876	T	G	101857876	2	3	234	1	0	0	0	0	0	0	0	1	966	1596	56	5		5	ARMCX5	23	101857876	Silent	SNP	T	TCGA-CV-5443-01A-01D-1512-08	100102478	101857876	53412684	79	42873											
ATAD3A	55210	broad.mit.edu	37	chr1	1455561	1455561	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctgcggcacaagaatgaGatgctgcgagtggaggccga	11	5	17	8	3	0	2	0	1	0	2	0	7	0	3	1	3	4	3	1	3	2	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:1455561G>A	ENST00000378755.5	+	6	793	c.699G>A	c.(697-699)gaG>gaA	p.E233E	ATAD3A_ENST00000378756.3_Silent_p.E185E|ATAD3A_ENST00000536055.1_Silent_p.E106E	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	233							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		ACAAGAATGAGATGCTGCGAG	0.687													3	24					0	0	0	0	A	1455561	G	A	1455561	2	1	235	1	0	0	0	0	0	0	0	1	1077	933	33	2		2	ATAD3A	1	1455561	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08		1455561	247795060	1	42874											
CAMTA1	23261	broad.mit.edu	37	chr1	7737774	7737774	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctcccttcctcccagcaCgactggctgtcgttggacgg	5	9	11	16	4	0	0	0	0	0	0	4	2	3	1	3	3	1	4	3	3	0	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:7737774C>T	ENST00000303635.7	+	11	3102	c.2895C>T	c.(2893-2895)caC>caT	p.H965H	CAMTA1_ENST00000439411.2_Silent_p.H965H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	965					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCTCCCAGCACGACTGGCTGT	0.557			T	WWTR1	epitheliod hemangioendothelioma								19	66					0	0	0	0	T	7737774	C	T	7737774	2	4	235	1	0	0	0	0	0	0	0	1	2638	535	19	1		1	CAMTA1	1	7737774	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	6282213	7737774	241512847	2	42875											
HTR6	3362	broad.mit.edu	37	chr1	19992662	19992662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctacaagctgcgcatgaCgcccctgcgtgccctggccc	5	6	12	18	4	0	1	0	1	0	0	0	1	0	1	4	1	5	3	4	1	2	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:19992662C>T	ENST00000289753.1	+	1	883	c.416C>T	c.(415-417)aCg>aTg	p.T139M		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	139					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CTGCGCATGACGCCCCTGCGT	0.687													8	75					0	0	0	0	T	19992662	C	T	19992662	3	4	235	1	0	0	0	0	1	0	0	0	7504	536	19	1	418	1	HTR6	1	19992662	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	12254888	19992662	229257959	3	42876											
MED18	54797	broad.mit.edu	37	chr1	28657231	28657231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggcaccattaacatgatgGagtacctgttgcagggtaag	11	9	14	7	0	0	1	0	1	0	0	0	2	0	2	2	4	3	5	2	4	3	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:28657231G>A	ENST00000373842.4	+	2	267	c.58G>A	c.(58-60)Gag>Aag	p.E20K	MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Missense_Mutation_p.E20K	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	20					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TAACATGATGGAGTACCTGTT	0.483													7	34					0	0	0	0	A	28657231	G	A	28657231	3	1	235	1	0	0	0	0	1	0	0	0	9505	1175	41	2	60	2	MED18	1	28657231	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	8664569	28657231	220593390	4	42877											
INPP5B	3633	broad.mit.edu	37	chr1	38352663	38352663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcataatcccaaccagtCggataagcttcacctggaaa	14	7	8	12	1	1	0	1	0	0	0	3	2	2	2	3	2	3	3	3	2	4	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:38352663C>T	ENST00000373023.2	-	12	1361	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q	INPP5B_ENST00000373027.1_Missense_Mutation_p.R179Q|INPP5B_ENST00000373024.3_Missense_Mutation_p.R343Q|INPP5B_ENST00000373026.1_Missense_Mutation_p.R423Q|INPP5B_ENST00000458109.2_Missense_Mutation_p.R106Q|INPP5B_ENST00000467066.1_5'UTR	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	423					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCAACCAGTCGGATAAGCTT	0.453													8	77					0	0	0	0	T	38352663	C	T	38352663	3	4	235	1	0	0	0	0	1	0	0	0	7808	884	31	1	1765	1	INPP5B	1	38352663	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	9695432	38352663	210897958	5	42878											
CYP4A22	284541	broad.mit.edu	37	chr1	47614372	47614372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctgatcccaccaggatccCcatccccatggcacgacttg	8	7	8	18	1	0	1	0	1	0	0	3	3	3	2	7	2	0	1	7	2	0	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:47614372C>G	ENST00000371891.3	+	12	1494	c.1463C>G	c.(1462-1464)cCc>cGc	p.P488R	CYP4A22_ENST00000371890.3_Missense_Mutation_p.P390R|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	488						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCAGGATCCCCATCCCCATG	0.557													23	148					0	0	0	0	G	47614372	C	G	47614372	3	3	235	1	0	0	0	0	1	0	0	0	4216	623	22	4	1509	4	CYP4A22	1	47614372	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	9261709	47614372	201636249	6	42879											
PODN	127435	broad.mit.edu	37	chr1	53537247	53537247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaccctgaggagctctcccGgctgcaccggctggagacgc	6	6	13	16	3	1	2	0	1	1	1	2	4	1	3	3	4	3	4	3	4	1	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:53537247G>A	ENST00000371500.3	+	5	781	c.440G>A	c.(439-441)cGg>cAg	p.R147Q	PODN_ENST00000312553.5_Missense_Mutation_p.R166Q|PODN_ENST00000471210.1_3'UTR|PODN_ENST00000395871.2_Intron|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	118					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGCTCTCCCGGCTGCACCGG	0.637													4	16					0	0	0	0	A	53537247	G	A	53537247	3	1	235	1	0	0	0	0	1	0	0	0	12250	1116	39	1	507	1	PODN	1	53537247	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	5922875	53537247	195713374	7	42880											
LRP8	7804	broad.mit.edu	37	chr1	53736921	53736921	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccacaggtcttctggtccagGagctggaagcctgctgggca	7	8	14	12	0	2	0	0	0	2	0	3	2	3	2	3	5	3	3	3	5	1	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:53736921G>C	ENST00000306052.6	-	7	1205	c.1104C>G	c.(1102-1104)ctC>ctG	p.L368L	LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.L368L|LRP8_ENST00000354412.3_Silent_p.L239L|LRP8_ENST00000347547.2_Silent_p.L198L	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	368	EGF-like 1.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TCTGGTCCAGGAGCTGGAAGC	0.577													7	109					0	0	0	0	C	53736921	G	C	53736921	2	2	235	1	0	0	0	0	0	0	0	1	9027	1161	41	2		2	LRP8	1	53736921	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	199674	53736921	195513700	8	42881											
DNAJC6	9829	broad.mit.edu	37	chr1	65845131	65845131	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggctcccagtctgcacaAcctttttgctgtgtgtcgga	6	12	11	12	1	1	0	0	0	1	0	3	1	2	1	2	2	3	4	2	2	1	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:65845131A>G	ENST00000395325.3	+	5	576	c.419A>G	c.(418-420)aAc>aGc	p.N140S	DNAJC6_ENST00000263441.7_Missense_Mutation_p.N127S|DNAJC6_ENST00000371069.4_Missense_Mutation_p.N197S	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	140	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AGTCTGCACAACCTTTTTGCT	0.453													8	137					0	0	0	0	G	65845131	A	G	65845131	3	3	235	1	0	0	0	0	1	0	0	0	4689	43	2	5	437	5	DNAJC6	1	65845131	Missense_Mutation	SNP	A	TCGA-CV-5444-01A-02D-1512-08	12108210	65845131	183405490	9	42882											
LHX8	431707	broad.mit.edu	37	chr1	75622625	75622625	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaagaaacacgtcagtccTaatcactcatcctccacccc	13	7	3	18	1	3	1	3	0	0	1	6	1	6	1	5	0	1	0	5	0	3	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:75622625T>G	ENST00000294638.5	+	9	1522	c.858T>G	c.(856-858)ccT>ccG	p.P286P	LHX8_ENST00000356261.3_Silent_p.P276P	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	286						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ACGTCAGTCCTAATCACTCAT	0.512													22	114					0	0	0	0	G	75622625	T	G	75622625	2	3	235	1	0	0	0	0	0	0	0	1	8830	1509	53	5		5	LHX8	1	75622625	Silent	SNP	T	TCGA-CV-5444-01A-02D-1512-08	9777494	75622625	173627996	10	42883											
FUBP1	8880	broad.mit.edu	37	chr1	78444669	78444676	+	Frame_Shift_Del	DEL	ACTGTTGA	ACTGTTGA	-																															agccagaagaggggggaggcActgttgaatagtctgccatg																								rs139086388	byFrequency	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:78444669_78444676delACTGTTGA	ENST00000370767.1	-	1	100_107	c.13_20delTCAACAGT	c.(13-21)gfs	p.STV5fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.STV5fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.STV5fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	5					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGGGGGAGGCACTGTTGAATAGTCTGCC	0.572			"F, N"		oligodendroglioma								15	49	---	---	---	---					-	78444676	ACTGTTGA	-	78444669	7	5	235	1	0	1	0	1	0	0	0	0	6140	159	6	0	1994	0	FUBP1	1	78444669	Frame_Shift_Del	DEL	ACTGTTGA	TCGA-CV-5444-01A-02D-1512-08	2822044	78444669	170805952	11	42884											
CELSR2	1952	broad.mit.edu	37	chr1	109795151	109795151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgcccctcagttcctgcGagactcctaccagggcagtg	8	8	10	15	1	1	1	1	0	0	1	3	2	3	1	5	1	3	2	5	1	2	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:109795151G>A	ENST00000271332.3	+	1	2511	c.2450G>A	c.(2449-2451)cGa>cAa	p.R817Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	817	Cadherin 7.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAGTTCCTGCGAGACTCCTAC	0.552													10	79					0	0	0	0	A	109795151	G	A	109795151	3	1	235	1	0	0	0	0	1	0	0	0	3251	1058	37	1	2452	1	CELSR2	1	109795151	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	31350482	109795151	139455470	12	42885											
ATP5F1	515	broad.mit.edu	37	chr1	111996851	111996851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agggtattgcaggcaacaagGacctttcatacagggcagcc	12	7	12	10	0	1	0	1	0	0	0	1	1	1	1	2	4	4	4	2	4	4	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:111996851G>C	ENST00000369722.3	+	3	702	c.96G>C	c.(94-96)agG>agC	p.R32S	ATP5F1_ENST00000369721.4_Intron|ATP5F1_ENST00000483994.1_Intron	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	32					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGCAACAAGGACCTTTCATA	0.418													9	71					0	0	0	0	C	111996851	G	C	111996851	3	2	235	1	0	0	0	0	1	0	0	0	1156	1165	41	2	106	2	ATP5F1	1	111996851	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	2201700	111996851	137253770	13	42886											
ITGA10	8515	broad.mit.edu	37	chr1	145538042	145538042	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctctcctgagccaggtCttcgtgaagctgactgccag	6	11	10	14	1	2	3	0	3	2	0	6	3	4	3	4	1	3	1	4	1	1	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:145538042C>A	ENST00000369304.3	+	22	2896	c.2721C>A	c.(2719-2721)gtC>gtA	p.V907V	ITGA10_ENST00000538811.1_Silent_p.V776V|ITGA10_ENST00000539363.1_Silent_p.V764V	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	907					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGAGCCAGGTCTTCGTGAAGC	0.527													54	174					1.38658e-30	1.57145e-30	1	0	A	145538042	C	A	145538042	2	1	235	1	0	0	0	0	0	0	0	1	7926	900	32	2		2	ITGA10	1	145538042	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	33541191	145538042	103712579	14	42887											
TCHH	7062	broad.mit.edu	37	chr1	152085245	152085245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcactttgctcctctccctCagctagctccctctcctgtt	3	15	4	19	0	4	0	2	0	2	0	8	0	6	0	4	0	3	4	4	0	1	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:152085245C>T	ENST00000368804.1	-	2	447	c.448G>A	c.(448-450)Gag>Aag	p.E150K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	150					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCTCCCTCAGCTAGCTCC	0.582													41	184					0	0	0	0	T	152085245	C	T	152085245	3	4	235	1	0	0	0	0	1	0	0	0	15794	835	29	2	5387	2	TCHH	1	152085245	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	6547203	152085245	97165376	15	42888											
SYT2	127833	broad.mit.edu	37	chr1	202569513	202569513	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgcccacgtccatcttcttGaggttcttagcctccaggat	6	12	8	15	2	3	1	0	1	3	0	5	2	5	2	5	2	1	1	5	2	1	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:202569513G>C	ENST00000367267.1	-	7	1083	c.891C>G	c.(889-891)ctC>ctG	p.L297L	SYT2_ENST00000367268.4_Silent_p.L297L	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	297	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CCATCTTCTTGAGGTTCTTAG	0.617											OREG0014101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	121					0	0	0	0	C	202569513	G	C	202569513	2	2	235	1	0	0	0	0	0	0	0	1	15565	1277	45	2		2	SYT2	1	202569513	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	50484268	202569513	46681108	16	42889											
FMOD	2331	broad.mit.edu	37	chr1	203316668	203316668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtacagctgctcaagagctGagggcagcccatcaggcacc	10	6	12	13	0	2	2	2	1	0	1	2	2	2	2	2	2	5	6	2	2	2	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:203316668G>A	ENST00000354955.4	-	2	1194	c.731C>T	c.(730-732)tCa>tTa	p.S244L	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	244					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTCAAGAGCTGAGGGCAGCCC	0.587													18	162					0	0	0	0	A	203316668	G	A	203316668	3	1	235	1	0	0	0	0	1	0	0	0	6004	1294	45	2	407	2	FMOD	1	203316668	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	747155	203316668	45933953	17	42890											
CDC42BPA	8476	broad.mit.edu	37	chr1	227216783	227216783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagaagttacggtttgaCaccctttagtttctgacagc	9	14	8	10	1	1	3	0	2	1	1	2	3	2	3	2	1	2	3	2	1	3	6			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:227216783C>T	ENST00000366769.3	-	29	5193	c.3902G>A	c.(3901-3903)tGt>tAt	p.C1301Y	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.C1301Y|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.C1273Y|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.C1281Y|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.C1336Y|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.C1220Y|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.C1314Y	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1314	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TACGGTTTGACACCCTTTAGT	0.468													5	51					0	0	0	0	T	227216783	C	T	227216783	3	4	235	1	0	0	0	0	1	0	0	0	3101	478	17	4	1289	4	CDC42BPA	1	227216783	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	23900115	227216783	22033838	18	42891											
SMYD3	64754	broad.mit.edu	37	chr1	246498710	246498710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagaagtcgaacggagtctgGaggatatctgggtttgcagc	11	9	15	6	2	2	1	0	0	2	1	3	5	2	4	0	4	3	2	0	4	4	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:246498710G>A	ENST00000490107.1	-	3	334	c.118C>T	c.(118-120)Cca>Tca	p.P40S	SMYD3_ENST00000388985.4_Missense_Mutation_p.P99S|SMYD3_ENST00000541742.1_Missense_Mutation_p.P40S|SMYD3_ENST00000403792.3_Missense_Mutation_p.P99S	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	99						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		ACGGAGTCTGGAGGATATCTG	0.408													28	105					0	0	0	0	A	246498710	G	A	246498710	3	1	235	1	0	0	0	0	1	0	0	0	14911	1174	41	2	1031	2	SMYD3	1	246498710	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	19281927	246498710	2751911	19	42892											
ADAM17	6868	broad.mit.edu	37	chr2	9676833	9676833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccatactaaccaaccaCgtgtccagtgaagaagtcct	13	8	7	13	1	0	2	0	1	0	1	3	2	3	2	5	0	4	1	5	0	5	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:9676833C>T	ENST00000310823.3	-	3	537	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	ADAM17_ENST00000497134.1_Missense_Mutation_p.V119M	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	119					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TAACCAACCACGTGTCCAGTG	0.428													7	57					0	0	0	0	T	9676833	C	T	9676833	3	4	235	1	0	0	0	0	1	0	0	0	238	536	19	1	2187	1	ADAM17	2	9676833	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08		9676833	233522540	20	42893											
MRPL35	51318	broad.mit.edu	37	chr2	86433353	86433353	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaccagttgtttcctcCactcccagacttaccacatc	10	10	4	17	0	0	2	0	0	0	2	4	2	3	2	5	0	1	2	5	0	1	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:86433353C>T	ENST00000337109.4	+	2	202	c.168C>T	c.(166-168)tcC>tcT	p.S56S	MRPL35_ENST00000409180.1_Silent_p.S56S|MRPL35_ENST00000605125.1_Silent_p.S56S|MRPL35_ENST00000254644.8_Silent_p.S56S	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	56					translation	mitochondrial ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						TTGTTTCCTCCACTCCCAGAC	0.423													20	127					0	0	0	0	T	86433353	C	T	86433353	2	4	235	1	0	0	0	0	0	0	0	1	9868	581	21	4		4	MRPL35	2	86433353	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	76756520	86433353	156766020	21	42894											
NCK2	8440	broad.mit.edu	37	chr2	106498121	106498121	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcgcaagggcgcctcgctGagcaatggccagggctcccg	6	5	15	15	4	0	1	0	1	0	0	2	1	1	1	3	3	2	4	3	3	2	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:106498121G>A	ENST00000233154.4	+	4	1006	c.564G>A	c.(562-564)ctG>ctA	p.L188L	NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Silent_p.L188L|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	188					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GCGCCTCGCTGAGCAATGGCC	0.647													12	94					0	0	0	0	A	106498121	G	A	106498121	2	1	235	1	0	0	0	0	0	0	0	1	10290	1277	45	2		2	NCK2	2	106498121	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	20064768	106498121	136701252	22	42895											
BAZ2B	29994	broad.mit.edu	37	chr2	160241870	160241870	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaaatgttctccaagaGctgttttagcctataaaagt	13	13	7	8	0	2	1	1	0	1	1	3	1	2	1	2	0	3	4	2	0	6	5			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:160241870G>C	ENST00000392783.2	-	23	3977	c.3482C>G	c.(3481-3483)gCt>gGt	p.A1161G	BAZ2B_ENST00000343439.5_Missense_Mutation_p.A1061G|BAZ2B_ENST00000355831.2_Missense_Mutation_p.A1127G|BAZ2B_ENST00000392782.1_Missense_Mutation_p.A1125G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTCTCCAAGAGCTGTTTTAGC	0.323													4	46					0	0	0	0	C	160241870	G	C	160241870	3	2	235	1	0	0	0	0	1	0	0	0	1336	971	34	4	3084	4	BAZ2B	2	160241870	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	53743749	160241870	82957503	23	42896											
SCN3A	6328	broad.mit.edu	37	chr2	165949010	165949010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttgtctggttacaaaatCaaagaccattccttggaatt	13	13	7	8	0	2	1	1	0	1	1	3	3	3	2	2	2	1	1	2	2	5	5			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:165949010C>G	ENST00000360093.3	-	27	5052	c.4561G>C	c.(4561-4563)Gat>Cat	p.D1521H	SCN3A_ENST00000540861.1_Missense_Mutation_p.D4H|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1472H|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1521H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1521						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTACAAAATCAAAGACCATT	0.353													16	56					0	0	0	0	G	165949010	C	G	165949010	3	3	235	1	0	0	0	0	1	0	0	0	14005	826	29	2	1449	2	SCN3A	2	165949010	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	5707140	165949010	77250363	24	42897											
SCG2	7857	broad.mit.edu	37	chr2	224463969	224463969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggataagagacagggctGctccaagccagtgggtcttt	11	8	14	8	0	1	1	0	0	1	1	2	3	2	2	2	3	2	2	2	3	3	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:224463969G>T	ENST00000305409.2	-	2	264	c.32C>A	c.(31-33)gCa>gAa	p.A11E		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	11					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGACAGGGCTGCTCCAAGCCA	0.408													6	56					0.217242	0.219393	1	0	T	224463969	G	T	224463969	3	4	235	1	0	0	0	0	1	0	0	0	13977	1319	46	4	1825	4	SCG2	2	224463969	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	58514959	224463969	18735404	25	42898											
ASB18	401036	broad.mit.edu	37	chr2	237150090	237150090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgcaccggggaccctgctCtagcttgaggatccttctct	5	11	10	15	1	2	1	0	1	2	0	4	3	3	3	4	3	3	3	4	3	1	3	rs144206102	by1000genomes	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:237150090C>T	ENST00000330842.6	-	1	168	c.74G>A	c.(73-75)aGa>aAa	p.R25K	ASB18_ENST00000409749.3_Intron|AC079135.1_ENST00000415226.1_RNA			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	0					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GGACCCTGCTCTAGCTTGAGG	0.537													3	25					0	0	0	0	T	237150090	C	T	237150090	3	4	235	1	0	0	0	0	1	0	0	0	1026	928	32	2		2	ASB18	2	237150090	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	12686121	237150090	6049283	26	42899											
FARP2	9855	broad.mit.edu	37	chr2	242407683	242407683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtctgctacttgcctctCaacacgttcctgctgaagcc	8	11	8	14	1	2	1	1	1	2	0	4	1	3	1	3	1	6	3	3	1	4	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:242407683C>T	ENST00000264042.3	+	18	2192	c.2022C>T	c.(2020-2022)ctC>ctT	p.L674L		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	674	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACTTGCCTCTCAACACGTTCC	0.567													9	53					0	0	0	0	T	242407683	C	T	242407683	2	4	235	1	0	0	0	0	0	0	0	1	5722	813	29	2		2	FARP2	2	242407683	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	5257593	242407683	791690	27	42900											
CPNE9	151835	broad.mit.edu	37	chr3	9747714	9747714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggccctgggagaggtgattgGaggccagggcagccgagtag	8	5	20	8	1	0	2	0	1	0	1	0	5	0	3	3	6	1	2	3	6	1	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:9747714G>C	ENST00000383832.3	+	7	534	c.344G>C	c.(343-345)gGa>gCa	p.G115A	CPNE9_ENST00000383831.3_Missense_Mutation_p.G115A	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	115										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GAGGTGATTGGAGGCCAGGGC	0.587													4	44					0	0	0	0	C	9747714	G	C	9747714	3	2	235	1	0	0	0	0	1	0	0	0	3849	1174	41	2	366	2	CPNE9	3	9747714	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08		9747714	188274716	28	42901											
IL17RE	132014	broad.mit.edu	37	chr3	9945094	9945094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaggatgacagtttcaCtggtgagtcgcatttcctgc	7	12	11	11	1	2	2	2	2	0	0	4	3	3	3	2	2	1	2	2	2	0	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:9945094C>A	ENST00000454190.2	+	2	231	c.146C>A	c.(145-147)aCt>aAt	p.T49N	IL17RE_ENST00000421412.1_Missense_Mutation_p.T82N|IL17RE_ENST00000295980.3_Missense_Mutation_p.T49N|IL17RE_ENST00000383814.3_Missense_Mutation_p.T49N	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	49						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GACAGTTTCACTGGTGAGTCG	0.512													10	38					1.61879e-10	1.79475e-10	1	0	A	9945094	C	A	9945094	3	1	235	1	0	0	0	0	1	0	0	0	7696	565	20	4	152	4	IL17RE	3	9945094	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	197380	9945094	188077336	29	42902											
TGFBR2	7048	broad.mit.edu	37	chr3	30729875	30729875	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgctggctttcttcacaGaagtaaaagattatgagcct	11	14	9	7	0	2	3	1	1	1	2	2	3	2	3	1	1	2	4	1	1	4	5			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:30729875G>A	ENST00000295754.5	+	6	1778		c.e6-1		TGFBR2_ENST00000359013.4_Splice_Site	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)						activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTTCTTCACAGAAGTAAAAGA	0.512													15	70					0	0	0	0	A	30729875	G	A	30729875	5	1	235	1	0	0	0	0	0	0	1	0	15916	956	33	2	1497	2	TGFBR2	3	30729875	Splice_Site	SNP	G	TCGA-CV-5444-01A-02D-1512-08	20784781	30729875	167292555	30	42903											
TGFBR2	7048	broad.mit.edu	37	chr3	30729917	30729917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catttggttccaaggtgcggGagcacccctgtgtcgaaagc	8	9	13	11	2	0	0	0	0	0	0	2	2	1	1	3	3	3	2	3	3	2	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:30729917G>A	ENST00000295754.5	+	6	1820	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E505K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	480	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CAAGGTGCGGGAGCACCCCTG	0.507													15	68					0	0	0	0	A	30729917	G	A	30729917	3	1	235	1	0	0	0	0	1	0	0	0	15916	1175	41	2	1539	2	TGFBR2	3	30729917	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	42	30729917	167292513	31	42904											
ROBO2	6092	broad.mit.edu	37	chr3	77666731	77666731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaccaaggtctggaagatGaactggaagaagatgatgat	16	8	12	5	0	1	6	0	3	1	3	1	8	1	8	1	3	2	0	1	3	6	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:77666731G>C	ENST00000461745.1	+	22	4261	c.3361G>C	c.(3361-3363)Gaa>Caa	p.E1121Q	ROBO2_ENST00000487694.3_Missense_Mutation_p.E1137Q|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.E1121Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1121					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCTGGAAGATGAACTGGAAGA	0.458													16	55					0	0	0	0	C	77666731	G	C	77666731	3	2	235	1	0	0	0	0	1	0	0	0	13599	1291	45	2	3449	2	ROBO2	3	77666731	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	46936814	77666731	120355699	32	42905											
PVRL3	25945	broad.mit.edu	37	chr3	110845177	110845177	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaccaaaaagtcatctacaTttcaggtaagttactatctg	14	13	6	8	0	4	1	2	1	2	0	4	1	4	1	1	1	2	2	1	1	6	5			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:110845177T>C	ENST00000485303.1	+	5	1339	c.1064T>C	c.(1063-1065)aTt>aCt	p.I355T	PVRL3_ENST00000319792.3_Missense_Mutation_p.I355T|PVRL3_ENST00000493615.1_Missense_Mutation_p.I332T	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	355					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GTCATCTACATTTCAGGTAAG	0.299													13	42					0	0	0	0	C	110845177	T	C	110845177	3	2	235	1	0	0	0	0	1	0	0	0	12923	1493	52	5	1082	5	PVRL3	3	110845177	Missense_Mutation	SNP	T	TCGA-CV-5444-01A-02D-1512-08	33178446	110845177	87177253	33	42906											
GAP43	2596	broad.mit.edu	37	chr3	115395104	115395104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactactgccgaagcagcccCagccactggctccaagcctg	9	5	9	18	1	0	0	0	0	0	0	1	1	1	0	6	1	6	2	6	1	3	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:115395104C>T	ENST00000393780.3	+	3	851	c.383C>T	c.(382-384)cCa>cTa	p.P128L	GAP43_ENST00000305124.6_Missense_Mutation_p.P92L	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	92					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GAAGCAGCCCCAGCCACTGGC	0.602													6	47					0	0	0	0	T	115395104	C	T	115395104	3	4	235	1	0	0	0	0	1	0	0	0	6284	594	21	4	423	4	GAP43	3	115395104	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	4549927	115395104	82627326	34	42907											
ZNF148	7707	broad.mit.edu	37	chr3	124998088	124998088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatcctcatttattgtaaGgatctagttcaaaaaaaaaa	17	13	4	7	0	3	0	2	0	1	0	5	1	5	1	2	1	0	2	2	1	8	6			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:124998088G>A	ENST00000360647.4	-	6	948	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F	ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.L155F|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.L155F|ZNF148_ENST00000492394.1_Missense_Mutation_p.L155F	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	155					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTTATTGTAAGGATCTAGTTC	0.308													31	48					0	0	0	0	A	124998088	G	A	124998088	3	1	235	1	0	0	0	0	1	0	0	0	17829	1000	35	4	1937	4	ZNF148	3	124998088	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	9602984	124998088	73024342	35	42908											
RASA2	5922	broad.mit.edu	37	chr3	141231006	141231006	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaattttatgccaacaggTgaagcaaaaaatttattgcc	16	13	6	6	0	0	1	0	1	0	0	0	1	0	1	2	1	4	1	2	1	9	6			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:141231006T>A	ENST00000286364.3	+	2	170	c.133_splice	c.e2-1	p.C45_splice	RASA2_ENST00000452898.1_Splice_Site_p.C45_splice			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	45	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGCCAACAGGTGAAGCAAAAA	0.323													15	45					0	0	0	0	A	141231006	T	A	141231006	5	1	235	1	0	0	0	0	0	0	1	0	13143	1710	59	5	141	5	RASA2	3	141231006	Splice_Site	SNP	T	TCGA-CV-5444-01A-02D-1512-08	16232918	141231006	56791424	36	42909											
IGSF10	285313	broad.mit.edu	37	chr3	151166371	151166371	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccatttgtgtttcactggCctcatctctgctcttggtaa	5	17	8	11	0	4	0	2	0	2	0	6	0	5	0	2	2	1	3	2	2	1	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:151166371C>T	ENST00000282466.3	-	4	1397	c.1398G>A	c.(1396-1398)agG>agA	p.R466R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	466	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTTCACTGGCCTCATCTCTG	0.453													33	162					0	0	0	0	T	151166371	C	T	151166371	2	4	235	1	0	0	0	0	0	0	0	1	7650	738	26	4		4	IGSF10	3	151166371	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	9935365	151166371	46856059	37	42910											
MAP6D1	79929	broad.mit.edu	37	chr3	183535851	183535851	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgactcgggctggttttgtCtttgtggatcttgagggctt	4	17	14	6	1	2	2	0	2	2	0	3	3	2	3	0	4	0	3	0	4	0	5			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:183535851C>T	ENST00000318631.3	-	2	480	c.450G>A	c.(448-450)aaG>aaA	p.K150K	MAP6D1_ENST00000431348.1_Silent_p.K150K	NM_024871.2	NP_079147.1	Q9H9H5	MA6D1_HUMAN	MAP6 domain containing 1	150						cytoskeleton				endometrium(1)|lung(1)	2	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTGGTTTTGTCTTTGTGGATC	0.582													11	112					0	0	0	0	T	183535851	C	T	183535851	2	4	235	1	0	0	0	0	0	0	0	1	9334	912	32	2		2	MAP6D1	3	183535851	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	32369480	183535851	14486579	38	42911											
PRKG2	5593	broad.mit.edu	37	chr4	82056396	82056396	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgatgcaggtaatcaaaTgcttctgtcacacaagcaac	14	9	8	10	1	3	0	2	0	1	0	4	1	3	0	0	1	4	4	0	1	4	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr4:82056396T>A	ENST00000395578.1	-	14	1805	c.1689A>T	c.(1687-1689)gcA>gcT	p.A563A	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Silent_p.A143A|PRKG2_ENST00000418486.2_Silent_p.A534A|PRKG2_ENST00000264399.1_Silent_p.A563A			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	563	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GGTAATCAAATGCTTCTGTCA	0.388													12	61					0	0	0	0	A	82056396	T	A	82056396	2	1	235	1	0	0	0	0	0	0	0	1	12603	1451	51	5		5	PRKG2	4	82056396	Silent	SNP	T	TCGA-CV-5444-01A-02D-1512-08		82056396	109097880	39	42912											
MTTP	4547	broad.mit.edu	37	chr4	100532392	100532392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgcctacactggctacaTagaacgtatgtacaccaaaa	14	10	6	11	1	1	1	0	0	1	1	1	1	1	1	2	1	5	3	2	1	8	6			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr4:100532392T>C	ENST00000457717.1	+	14	2118	c.1862T>C	c.(1861-1863)aTa>aCa	p.I621T	MTTP_ENST00000511045.1_Missense_Mutation_p.I648T|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.I621T	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	621	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ACTGGCTACATAGAACGTATG	0.433													15	89					0	0	0	0	C	100532392	T	C	100532392	3	2	235	1	0	0	0	0	1	0	0	0	10034	1406	49	5	1912	5	MTTP	4	100532392	Missense_Mutation	SNP	T	TCGA-CV-5444-01A-02D-1512-08	18475996	100532392	90621884	40	42913											
FAT4	79633	broad.mit.edu	37	chr4	126238826	126238826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgccgaacctgagcctaatCaaggtggccagcgccttgga	9	7	13	12	2	1	1	1	1	0	0	1	3	1	2	5	3	4	0	5	3	3	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr4:126238826C>G	ENST00000394329.3	+	1	1273	c.1260C>G	c.(1258-1260)atC>atG	p.I420M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	420	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAGCCTAATCAAGGTGGCCA	0.607											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	30					0	0	0	0	G	126238826	C	G	126238826	3	3	235	1	0	0	0	0	1	0	0	0	5737	816	29	2	1262	2	FAT4	4	126238826	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	25706434	126238826	64915450	41	42914											
GYPB	2994	broad.mit.edu	37	chr4	144920591	144920591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaacgatggacaagttGtcccgtttctcctataaagc	12	11	9	9	2	1	1	0	1	1	0	3	3	2	2	2	1	2	2	2	1	5	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr4:144920591G>C	ENST00000283126.7	-	3	203	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	GYPB_ENST00000429670.2_Missense_Mutation_p.Q50E|GYPB_ENST00000502664.1_Missense_Mutation_p.Q50E|GYPB_ENST00000513128.1_Missense_Mutation_p.Q17E|GYPB_ENST00000510196.2_5'UTR|RP11-673E1.4_ENST00000506982.1_RNA					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TGGACAAGTTGTCCCGTTTCT	0.328													5	6					0	0	0	0	C	144920591	G	C	144920591	3	2	235	1	0	0	0	0	1	0	0	0	6959	1386	48	4	139	4	GYPB	4	144920591	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	18681765	144920591	46233685	42	42915											
TRIM61	391712	broad.mit.edu	37	chr4	165891361	165891361	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcagagtctactgccaCgaacacttcacagcctgcag	11	8	8	14	1	3	1	2	0	1	1	3	2	3	1	2	0	6	2	2	0	2	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr4:165891361C>T	ENST00000329314.5	-	0	406					NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61							intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		TCTACTGCCACGAACACTTCA	0.418													2	2					0	0	0	0	T	165891361	C	T	165891361	1	4	235	1	0	0	0	0	0	0	0	0	16631	551	19	1		1	TRIM61	4	165891361	Translation_Start_Site	SNP	C	TCGA-CV-5444-01A-02D-1512-08	20970770	165891361	25262915	43	42916											
CTNND2	1501	broad.mit.edu	37	chr5	11364901	11364901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggggcttctgatagacgcGgtcttcatagatgggatcta	9	11	14	7	2	4	3	1	1	3	2	4	4	4	4	0	4	0	1	0	4	3	5			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:11364901G>A	ENST00000304623.8	-	8	1468	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	CTNND2_ENST00000503622.1_Missense_Mutation_p.R90C|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.R427C|CTNND2_ENST00000511377.1_Missense_Mutation_p.R336C	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	427					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGATAGACGCGGTCTTCATAG	0.622													16	49					0	0	0	0	A	11364901	G	A	11364901	3	1	235	1	0	0	0	0	1	0	0	0	4052	1116	39	1	2458	1	CTNND2	5	11364901	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08		11364901	169550359	44	42917											
TTC33	23548	broad.mit.edu	37	chr5	40747015	40747015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaagccagttcccttcatCgttgtcaactacatccttct	9	14	5	13	1	3	1	2	1	1	0	6	1	5	1	3	0	3	2	3	0	3	5	rs142188985		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:40747015C>T	ENST00000337702.4	-	2	258	c.106G>A	c.(106-108)Gat>Aat	p.D36N	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	36							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTCCCTTCATCGTTGTCAACT	0.443													3	32					0	0	0	0	T	40747015	C	T	40747015	3	4	235	1	0	0	0	0	1	0	0	0	16798	884	31	1	698	1	TTC33	5	40747015	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	29382114	40747015	140168245	45	42918											
TAF9	6880	broad.mit.edu	37	chr5	68660786	68660806	+	In_Frame_Del	DEL	TCATCATCATCATCATCGTCA	TCATCATCATCATCATCGTCA	-																															tagattacagattatcatagTcatcatcatcatcatcgtca																								rs149295876		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:68660786_68660806delTCATCATCATCATCATCGTCA	ENST00000328663.4	-	3	1225_1245	c.759_779delTGACGATGATGATGATGATGA	c.(757-780)gac>ga	p.DDDDDDDD253del	TAF9_ENST00000217893.5_In_Frame_Del_p.DDDDDDDD253del|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_In_Frame_Del_p.DDDDDDDD253del|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000502819.1_Intron	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	57						Cajal body	adenylate kinase activity|ATP binding|protein binding	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		attatcatagtcatcatcatcatcatcgtcatcatcatcat	0.33													7	82	---	---	---	---					-	68660806	TCATCATCATCATCATCGTCA	-	68660786	7	5	235	1	0	1	0	1	0	0	0	0	15626	1667	58	0	429	0	TAF9	5	68660786	In_Frame_Del	DEL	TCATCATCATCATCATCGTCA	TCGA-CV-5444-01A-02D-1512-08	27913771	68660786	112254474	46	42919											
PCDHB6	56130	broad.mit.edu	37	chr5	140531980	140531980	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcggtgcggctgtgcaggagGagcagggcggcctcggtggg	4	5	23	9	4	0	0	0	0	0	0	1	2	0	2	1	8	3	3	1	8	0	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:140531980G>A	ENST00000231136.1	+	1	2142	c.2142G>A	c.(2140-2142)agG>agA	p.R714R	PCDHB6_ENST00000543635.1_Silent_p.R578R	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		714					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTGCAGGAGGAGCAGGGCGG	0.662													16	155					0	0	0	0	A	140531980	G	A	140531980	2	1	235	1	0	0	0	0	0	0	0	1	11617	1165	41	2		2	PCDHB6	5	140531980	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	71871194	140531980	40383280	47	42920											
PCDHB7	56129	broad.mit.edu	37	chr5	140553835	140553835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctgcccatcggcagtgtCagcgccacagacagagactc	9	5	11	16	2	1	2	1	0	0	2	3	3	1	2	3	1	2	1	3	1	0	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:140553835C>T	ENST00000231137.3	+	1	1593	c.1419C>T	c.(1417-1419)gtC>gtT	p.V473V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		473	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGCAGTGTCAGCGCCACAG	0.637													6	85					0	0	0	0	T	140553835	C	T	140553835	2	4	235	1	0	0	0	0	0	0	0	1	11618	813	29	2		2	PCDHB7	5	140553835	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	21855	140553835	40361425	48	42921											
PCDHB12	56124	broad.mit.edu	37	chr5	140589072	140589072	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgagttagttctggacaAggcgctggattatgaagagc	10	10	13	8	1	1	3	0	2	1	1	1	5	1	5	1	3	1	3	1	3	4	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:140589072A>T	ENST00000239450.2	+	1	782	c.593A>T	c.(592-594)aAg>aTg	p.K198M	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		198	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCTGGACAAGGCGCTGGAT	0.488													14	56					0	0	0	0	T	140589072	A	T	140589072	3	4	235	1	0	0	0	0	1	0	0	0	11608	72	3	5	595	5	PCDHB12	5	140589072	Missense_Mutation	SNP	A	TCGA-CV-5444-01A-02D-1512-08	35237	140589072	40326188	49	42922											
PCYOX1L	78991	broad.mit.edu	37	chr5	148745675	148745675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtttctgctgtcctgcGggccagctatggccagtcag	4	12	13	12	2	2	0	1	0	1	0	4	0	3	0	3	2	3	3	3	2	1	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:148745675G>T	ENST00000514349.1	+	3	950	c.371G>T	c.(370-372)cGg>cTg	p.R124L	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.R214L			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	214					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTCCTGCGGGCCAGCTAT	0.597													10	35					0.000673444	0.000697374	1	0	T	148745675	G	T	148745675	3	4	235	1	0	0	0	0	1	0	0	0	11680	1116	39	3	655	3	PCYOX1L	5	148745675	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	8156603	148745675	32169585	50	42923											
CNOT8	9337	broad.mit.edu	37	chr5	154250259	154250259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggattccatagatctccttgCtaactcaggactacagtttc	10	13	7	11	0	2	1	1	0	1	1	5	3	3	3	2	2	3	2	2	2	3	6			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:154250259C>T	ENST00000517876.1	+	5	826	c.350C>T	c.(349-351)gCt>gTt	p.A117V	CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000521583.1_Missense_Mutation_p.A11V|CNOT8_ENST00000521450.1_Missense_Mutation_p.A11V|CNOT8_ENST00000520671.1_Missense_Mutation_p.A11V|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000523698.1_Missense_Mutation_p.A11V|CNOT8_ENST00000285896.6_Missense_Mutation_p.A117V|CNOT8_ENST00000403027.2_Missense_Mutation_p.A117V			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	117					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GATCTCCTTGCTAACTCAGGA	0.418													22	75					0	0	0	0	T	154250259	C	T	154250259	3	4	235	1	0	0	0	0	1	0	0	0	3655	797	28	4	360	4	CNOT8	5	154250259	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	5504584	154250259	26665001	51	42924											
B4GALT7	11285	broad.mit.edu	37	chr5	177036573	177036573	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggacagggagggaggcctGaacactgtgaagtaccatgt	11	7	16	7	0	0	2	0	2	0	0	0	5	0	5	2	4	2	1	2	4	3	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:177036573G>A	ENST00000029410.5	+	6	972	c.861G>A	c.(859-861)ctG>ctA	p.L287L		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	287					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGGAGGCCTGAACACTGTGA	0.612													23	125					0	0	0	0	A	177036573	G	A	177036573	2	1	235	1	0	0	0	0	0	0	0	1	1280	1277	45	2		2	B4GALT7	5	177036573	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	22786314	177036573	3878687	52	42925											
TNXB	7148	broad.mit.edu	37	chr6	32020544	32020544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctccaggccccccacGgtgacctcgctctcctcgcc	3	6	10	22	4	1	1	0	1	1	0	5	1	2	1	8	3	0	2	8	3	0	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr6:32020544G>A	ENST00000375244.3	-	26	9219	c.9018C>T	c.(9016-9018)acC>acT	p.T3006T	TNXB_ENST00000375247.2_Silent_p.T3004T			P22105	TENX_HUMAN	tenascin XB	3051	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCCCCCACGGTGACCTCGC	0.682													10	37					0	0	0	0	A	32020544	G	A	32020544	2	1	235	1	0	0	0	0	0	0	0	1	16440	1103	39	1		1	TNXB	6	32020544	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08		32020544	139094523	53	42926											
PRIM2	5558	broad.mit.edu	37	chr6	57398239	57398239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtatgtcctatttctgaaGggcattggtttaactttgga	9	16	10	6	0	1	1	0	1	1	0	2	2	2	2	1	3	1	3	1	3	4	7			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr6:57398239G>T	ENST00000607273.1	+	10	1029	c.942G>T	c.(940-942)aaG>aaT	p.K314N	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	314					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TATTTCTGAAGGGCATTGGTT	0.388													11	104					3.07112e-06	3.31486e-06	1	0	T	57398239	G	T	57398239	3	4	235	1	0	0	0	0	1	0	0	0	12571	991	35	4	976	4	PRIM2	6	57398239	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	25377695	57398239	113716828	54	42927											
BAI3	577	broad.mit.edu	37	chr6	69684692	69684692	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaggattatctgatgtcGatggtgtggaaaagaactcc	11	11	12	7	1	1	3	0	2	1	1	3	6	2	5	2	3	1	0	2	3	4	1	rs139424513		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr6:69684692G>T	ENST00000370598.1	+	9	2384	c.1563G>T	c.(1561-1563)tcG>tcT	p.S521S		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	521					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCTGATGTCGATGGTGTGGA	0.413													3	33					0.004672	0.00478939	1	0	T	69684692	G	T	69684692	2	4	235	1	0	0	0	0	0	0	0	1	1304	1045	37	3		3	BAI3	6	69684692	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	12286453	69684692	101430375	55	42928											
MAP3K7	6885	broad.mit.edu	37	chr6	91226264	91226264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgacttctgatgacctCtagttgttttttgcattgct	5	19	8	9	0	2	3	0	3	2	0	2	3	2	3	1	0	3	5	1	0	1	7			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr6:91226264C>T	ENST00000369329.3	-	17	1938	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	MAP3K7_ENST00000369332.3_Missense_Mutation_p.E566K|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369320.1_Missense_Mutation_p.E247K|MAP3K7_ENST00000369327.3_3'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	593					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	p.E566K(1)|p.E593K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGATGACCTCTAGTTGTTTT	0.378													19	95					0	0	0	0	T	91226264	C	T	91226264	3	4	235	1	0	0	0	0	1	0	0	0	9324	922	32	2	47	2	MAP3K7	6	91226264	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	21541572	91226264	79888803	56	42929											
TPD52L1	7164	broad.mit.edu	37	chr6	125569434	125569434	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttttatttctagctacaaGaaaacacatgaaaccctgag	15	12	6	8	0	1	3	0	2	1	1	1	3	1	3	1	0	4	2	1	0	7	5			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr6:125569434G>A	ENST00000534000.1	+	4	587	c.291G>A	c.(289-291)aaG>aaA	p.K97K	TPD52L1_ENST00000368388.2_Silent_p.K97K|TPD52L1_ENST00000524679.1_Silent_p.K68K|TPD52L1_ENST00000528193.1_Silent_p.K97K|TPD52L1_ENST00000304877.13_Silent_p.K97K|TPD52L1_ENST00000534199.1_Silent_p.K68K|TPD52L1_ENST00000368402.5_Silent_p.K97K|TPD52L1_ENST00000532429.1_Silent_p.K68K|TPD52L1_ENST00000527711.1_Silent_p.K97K|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000392482.2_Silent_p.K68K	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	97					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CTAGCTACAAGAAAACACATG	0.413													5	17					0	0	0	0	A	125569434	G	A	125569434	2	1	235	1	0	0	0	0	0	0	0	1	16493	933	33	2		2	TPD52L1	6	125569434	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	34343170	125569434	45545633	57	42930											
SCIN	85477	broad.mit.edu	37	chr7	12691524	12691524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaaaagaatctctgaagtCtggtaagctcaatcgatgga	16	9	10	6	1	3	2	1	1	2	1	5	5	3	3	0	2	1	2	0	2	7	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:12691524C>T	ENST00000297029.5	+	15	2119	c.2018C>T	c.(2017-2019)tCt>tTt	p.S673F	SCIN_ENST00000519209.1_Missense_Mutation_p.S426F|SCIN_ENST00000445618.2_Missense_Mutation_p.S426F	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	673	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCTCTGAAGTCTGGTAAGCTC	0.368													5	12					0	0	0	0	T	12691524	C	T	12691524	3	4	235	1	0	0	0	0	1	0	0	0	13992	913	32	2	2076	2	SCIN	7	12691524	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08		12691524	146447139	58	42931											
CPVL	54504	broad.mit.edu	37	chr7	29111497	29111497	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacaagccaatttggtacagGaattctgcatagccccctat	13	10	7	11	0	1	0	0	0	1	0	1	1	1	1	3	2	5	2	3	2	7	5			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:29111497G>A	ENST00000409850.1	-	13	1402	c.756C>T	c.(754-756)ttC>ttT	p.F252F	CPVL_ENST00000396276.3_Silent_p.F252F|CPVL_ENST00000265394.5_Silent_p.F252F			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	252					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TTTGGTACAGGAATTCTGCAT	0.428													40	63					0	0	0	0	A	29111497	G	A	29111497	2	1	235	1	0	0	0	0	0	0	0	1	3865	1165	41	2		2	CPVL	7	29111497	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	16419973	29111497	130027166	59	42932											
FIGNL1	63979	broad.mit.edu	37	chr7	50514941	50514941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaattgcgaagtaattcttCtgccattcactcaggtgcac	10	13	8	10	1	4	0	2	0	2	0	4	1	4	0	1	1	3	3	1	1	3	6			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:50514941C>G	ENST00000419119.1	-	2	1598	c.45G>C	c.(43-45)caG>caC	p.Q15H	FIGNL1_ENST00000356889.4_Missense_Mutation_p.Q15H|FIGNL1_ENST00000433017.1_Missense_Mutation_p.Q15H|FIGNL1_ENST00000395556.2_Missense_Mutation_p.Q15H|FIGNL1_ENST00000435566.1_Missense_Mutation_p.Q15H			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	15					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AGTAATTCTTCTGCCATTCAC	0.413													13	26					0	0	0	0	G	50514941	C	G	50514941	3	3	235	1	0	0	0	0	1	0	0	0	5937	912	32	2	1983	2	FIGNL1	7	50514941	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	21403444	50514941	108623722	60	42933											
HIP1	3092	broad.mit.edu	37	chr7	75192564	75192564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcggtagaacagatctttCaacctaggggtggagaagga	13	7	15	6	1	2	3	1	0	1	3	2	6	2	4	1	5	3	1	1	5	5	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:75192564C>T	ENST00000336926.6	-	10	833	c.807G>A	c.(805-807)ttG>ttA	p.L269L	HIP1_ENST00000434438.2_Silent_p.L269L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	269					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACAGATCTTTCAACCTAGGGG	0.602			T	PDGFRB	CMML								6	65					0	0	0	0	T	75192564	C	T	75192564	2	4	235	1	0	0	0	0	0	0	0	1	7164	825	29	2		2	HIP1	7	75192564	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	24677623	75192564	83946099	61	42934											
PDK4	5166	broad.mit.edu	37	chr7	95224335	95224335	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatatggttcaccacttacCagcttttaaccaattgcact	12	13	4	12	0	1	0	1	0	0	0	1	0	1	0	3	1	4	3	3	1	5	6			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:95224335C>T	ENST00000005178.5	-	2	469	c.272_splice	c.e2+1	p.W91_splice		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	91					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CACCACTTACCAGCTTTTAAC	0.388													16	125					0	0	0	0	T	95224335	C	T	95224335	5	4	235	1	0	0	0	0	0	0	1	0	11749	608	21	4	1003	4	PDK4	7	95224335	Splice_Site	SNP	C	TCGA-CV-5444-01A-02D-1512-08	20031771	95224335	63914328	62	42935											
TECPR1	25851	broad.mit.edu	37	chr7	97861158	97861158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtagatgaagaggatgctGtcccggacgccgtcgtgccc	8	8	14	11	4	0	3	0	1	0	2	2	5	1	5	3	2	2	2	3	2	3	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:97861158G>T	ENST00000447648.2	-	13	2231	c.1932C>A	c.(1930-1932)gaC>gaA	p.D644E	TECPR1_ENST00000542604.1_Missense_Mutation_p.D574E|TECPR1_ENST00000379795.3_Missense_Mutation_p.D645E			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	644	PH.					integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGGATGCTGTCCCGGACGC	0.657													6	126					0.0293803	0.0299679	1	0	T	97861158	G	T	97861158	3	4	235	1	0	0	0	0	1	0	0	0	15837	1368	48	4	1621	4	TECPR1	7	97861158	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	2636823	97861158	61277505	63	42936											
FSCN3	29999	broad.mit.edu	37	chr7	127235925	127235925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagaaggaggcatgttatatCcacagggcacgcatctgctc	11	8	12	10	1	1	1	0	0	1	1	3	3	2	2	1	3	1	5	1	3	3	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:127235925C>T	ENST00000265825.5	+	2	928	c.709C>T	c.(709-711)Cca>Tca	p.P237S	FSCN3_ENST00000420086.2_Missense_Mutation_p.P103S	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	237						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CATGTTATATCCACAGGGCAC	0.582													28	87					0	0	0	0	T	127235925	C	T	127235925	3	4	235	1	0	0	0	0	1	0	0	0	6117	855	30	2	715	2	FSCN3	7	127235925	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	29374767	127235925	31902738	64	42937											
DLC1	10395	broad.mit.edu	37	chr8	12957657	12957657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttggaaacgctcctctttCgtaccatggggacgttgatg	8	12	12	9	3	1	1	0	1	1	0	3	3	2	3	2	3	2	4	2	3	2	4	rs140340878	byFrequency	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:12957657C>T	ENST00000276297.4	-	9	2598	c.2189G>A	c.(2188-2190)cGa>cAa	p.R730Q	DLC1_ENST00000512044.2_Missense_Mutation_p.R327Q|DLC1_ENST00000358919.2_Missense_Mutation_p.R293Q|DLC1_ENST00000520226.1_Missense_Mutation_p.R219Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	730					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTCCTCTTTCGTACCATGGG	0.612													6	71					0	0	0	0	T	12957657	C	T	12957657	3	4	235	1	0	0	0	0	1	0	0	0	4587	884	31	1	2437	1	DLC1	8	12957657	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08		12957657	133406365	65	42938											
RUNX1T1	862	broad.mit.edu	37	chr8	93029589	93029589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagtgcttctcagtacGatctggaggatgccaccagg	8	10	14	9	1	2	0	1	0	2	0	3	4	2	3	2	4	3	2	2	4	1	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:93029589G>T	ENST00000523629.1	-	3	545	c.91C>A	c.(91-93)Cgt>Agt	p.R31S	RUNX1T1_ENST00000520724.1_5'UTR|RUNX1T1_ENST00000422361.2_5'UTR|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R42S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R4S|RUNX1T1_ENST00000521553.1_5'UTR|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R31S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R4S|RUNX1T1_ENST00000360348.2_5'UTR|RUNX1T1_ENST00000522163.1_5'UTR	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	31		Breakpoint for translocation to form AML1-MTG8 in AML-M2.			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)			TTCTCAGTACGATCTGGAGGA	0.448													9	66					3.86212e-05	4.1035e-05	1	0	T	93029589	G	T	93029589	3	4	235	1	0	0	0	0	1	0	0	0	13832	1058	37	3	1763	3	RUNX1T1	8	93029589	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	80071932	93029589	53334433	66	42939											
UBR5	51366	broad.mit.edu	37	chr8	103291308	103291308	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaggggatggcttcagccaGaggcacttcaaatggatttg	11	9	13	8	0	2	1	2	0	0	1	2	3	2	3	1	5	1	2	1	5	2	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:103291308G>A	ENST00000520539.1	-	43	6736	c.6130C>T	c.(6130-6132)Ctg>Ttg	p.L2044L	UBR5_ENST00000220959.4_Silent_p.L2044L|UBR5_ENST00000521922.1_Silent_p.L2038L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2044	Pro-rich.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCTTCAGCCAGAGGCACTTCA	0.433													7	106					0	0	0	0	A	103291308	G	A	103291308	2	1	235	1	0	0	0	0	0	0	0	1	17001	933	33	2		2	UBR5	8	103291308	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	10261719	103291308	43072714	67	42940											
SLC25A32	81034	broad.mit.edu	37	chr8	104417026	104417026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttcagcagctgagacaagGtattctgttgcctctaaacg	10	11	10	10	1	3	1	1	1	2	1	3	2	3	1	1	1	4	5	1	1	4	5			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:104417026G>A	ENST00000297578.4	-	3	535	c.369C>T	c.(367-369)taC>taT	p.Y123Y	SLC25A32_ENST00000543107.1_Intron	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	123					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CTGAGACAAGGTATTCTGTTG	0.333													6	52					0	0	0	0	A	104417026	G	A	104417026	2	1	235	1	0	0	0	0	0	0	0	1	14584	1256	44	4		4	SLC25A32	8	104417026	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	1125718	104417026	41946996	68	42941											
COL14A1	7373	broad.mit.edu	37	chr8	121174684	121174684	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggaaaaactaaccagctGaatctgcagaacactgcaac	16	6	9	10	0	1	2	0	1	1	1	1	3	1	3	1	2	7	3	1	2	6	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:121174684G>A	ENST00000297848.3	+	4	495	c.225G>A	c.(223-225)ctG>ctA	p.L75L	COL14A1_ENST00000309791.4_Silent_p.L75L|COL14A1_ENST00000247781.3_Silent_p.L75L|COL14A1_ENST00000537875.1_Silent_p.L75L|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	75	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTAACCAGCTGAATCTGCAGA	0.313													5	57					0	0	0	0	A	121174684	G	A	121174684	2	1	235	1	0	0	0	0	0	0	0	1	3701	1277	45	2		2	COL14A1	8	121174684	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	16757658	121174684	25189338	69	42942											
OC90	729330	broad.mit.edu	37	chr8	133051056	133051056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctgggcagaagtgttgtCaagtcttccttgatggttgt	6	15	12	8	0	3	2	1	1	2	1	4	2	4	2	2	2	0	3	2	2	2	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:133051056C>G	ENST00000262283.5	-	11	1296	c.1197G>C	c.(1195-1197)ttG>ttC	p.L399F	OC90_ENST00000254627.3_Missense_Mutation_p.L203F|OC90_ENST00000603859.1_Missense_Mutation_p.L203F|OC90_ENST00000443356.2_Missense_Mutation_p.L203F			Q02509	OC90_HUMAN	otoconin 90	203	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GAAGTGTTGTCAAGTCTTCCT	0.527													4	36					0	0	0	0	G	133051056	C	G	133051056	3	3	235	1	0	0	0	0	1	0	0	0	10885	825	29	2	852	2	OC90	8	133051056	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	11876372	133051056	13312966	70	42943											
SLC45A4	57210	broad.mit.edu	37	chr8	142228641	142228641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctcgtcctccttggcGgcttccttgaggaaggtggc	5	11	14	11	2	1	1	0	1	1	0	5	2	4	2	3	6	0	1	3	6	2	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:142228641G>A	ENST00000519067.1	-	4	1248	c.945C>T	c.(943-945)gcC>gcT	p.A315A	SLC45A4_ENST00000433583.2_Silent_p.A308A|SLC45A4_ENST00000024061.3_Silent_p.A315A|SLC45A4_ENST00000517878.1_Silent_p.A366A			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	366					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCTCCTTGGCGGCTTCCTTGA	0.622													22	83					0	0	0	0	A	142228641	G	A	142228641	2	1	235	1	0	0	0	0	0	0	0	1	14731	1103	39	1		1	SLC45A4	8	142228641	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	9177585	142228641	4135381	71	42944											
GSDMD	79792	broad.mit.edu	37	chr8	144644225	144644225	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagcttttggacagagAgctgtgccagctgctgctgg	7	10	15	9	0	0	1	0	0	0	1	0	4	0	3	1	3	6	5	1	3	0	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:144644225A>T	ENST00000526406.1	+	11	1803	c.920A>T	c.(919-921)gAg>gTg	p.E307V	GSDMD_ENST00000533063.1_Missense_Mutation_p.E355V|GSDMD_ENST00000262580.4_Missense_Mutation_p.E307V	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	307										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTGGACAGAGAGCTGTGCCAG	0.677													24	50					0	0	0	0	T	144644225	A	T	144644225	3	4	235	1	0	0	0	0	1	0	0	0	6869	304	11	5	946	5	GSDMD	8	144644225	Missense_Mutation	SNP	A	TCGA-CV-5444-01A-02D-1512-08	2415584	144644225	1719797	72	42945											
RECQL4	9401	broad.mit.edu	37	chr8	145737627	145737627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatatctggtccttctcctCagcggtcaagtcccccgggc	6	10	9	16	2	4	0	2	0	2	0	7	0	6	0	4	3	1	0	4	3	2	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:145737627C>G	ENST00000428558.2	-	19	3177	c.3136G>C	c.(3136-3138)Gag>Cag	p.E1046Q	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1046					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCCTTCTCCTCAGCGGTCAAG	0.637			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				10	42					0	0	0	0	G	145737627	C	G	145737627	3	3	235	1	0	0	0	0	1	0	0	0	13284	835	29	2	506	2	RECQL4	8	145737627	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	1093402	145737627	626395	73	42946											
CDKN2A	1029	broad.mit.edu	37	chr9	21970900	21970900	+	Missense_Mutation	SNP	C	C	T																															tctcagatcatcagtcctcaCctgagggaccttccgcggca																										TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:21970900C>T	ENST00000497750.1	-	2	379	c.305G>A	c.(304-306)gGt>gAt	p.G102D	CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(12)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCAGTCCTCACCTGAGGGACC	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	40					0	0	0	0	T	21970900	C	T	21970900	3	4	235	1	0	0	0	0	1	0	0	0	3190	521	18	4	20	4	CDKN2A	9	21970900	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08		21970900	119242531	74	42947	333	2									
CDKN2A	1029	broad.mit.edu	37	chr9	21970901	21970901	+	Missense_Mutation	SNP	C	C	T																															ctcagatcatcagtcctcacCtgagggaccttccgcggcat																								rs45476696		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:21970901C>T	ENST00000497750.1	-	2	378	c.304G>A	c.(304-306)Ggt>Agt	p.G102S	CDKN2A_ENST00000304494.5_Splice_Site_p.D153_splice|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000498124.1_Splice_Site_p.E153_splice|CDKN2A_ENST00000446177.1_Splice_Site_p.E153_splice|CDKN2A_ENST00000578845.2_Splice_Site_p.D102_splice|CDKN2A_ENST00000498628.2_Splice_Site_p.D102_splice|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000479692.2_Splice_Site_p.V102_splice|CDKN2A_ENST00000494262.1_Splice_Site_p.D102_splice|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(16)|p.D153N(1)|p.0(1)|p.E153K(1)|p.D153Y(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGTCCTCACCTGAGGGACCT	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	40					0	0	0	0	T	21970901	C	T	21970901	3	4	235	1	0	0	0	0	1	0	0	0	3190	695	24	4	21	4	CDKN2A	9	21970901	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	1	21970901	119242530	75	42948	333	2									
PRUNE2	158471	broad.mit.edu	37	chr9	79325493	79325493	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggacaaactcctcatcaTgttccacaaggctatctttg	10	13	6	12	0	4	0	2	0	2	0	6	1	6	1	2	2	1	2	2	2	3	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:79325493T>C	ENST00000428286.1	-	8	1820	c.620A>G	c.(619-621)cAt>cGt	p.H207R	PRUNE2_ENST00000376718.3_Missense_Mutation_p.H566R			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	566					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCCTCATCATGTTCCACAAG	0.473													23	35					0	0	0	0	C	79325493	T	C	79325493	3	2	235	1	0	0	0	0	1	0	0	0	12720	1464	51	5	7617	5	PRUNE2	9	79325493	Missense_Mutation	SNP	T	TCGA-CV-5444-01A-02D-1512-08	57354592	79325493	61887938	76	42949											
MUSK	4593	broad.mit.edu	37	chr9	113562840	113562840	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcaccgagatttagccAccaggaactgcctggtgggc	8	10	12	11	1	1	1	1	0	0	1	1	3	1	2	4	3	3	1	4	3	2	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:113562840A>C	ENST00000416899.2	+	13	2284	c.2158A>C	c.(2158-2160)Acc>Ccc	p.T720P	MUSK_ENST00000374448.4_Missense_Mutation_p.T728P|MUSK_ENST00000189978.5_Missense_Mutation_p.T728P			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	728	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGATTTAGCCACCAGGAACTG	0.522													81	323					0	0	0	0	C	113562840	A	C	113562840	3	2	235	1	0	0	0	0	1	0	0	0	10059	159	6	5	2272	5	MUSK	9	113562840	Missense_Mutation	SNP	A	TCGA-CV-5444-01A-02D-1512-08	34237347	113562840	27650591	77	42950											
NR6A1	2649	broad.mit.edu	37	chr9	127289143	127289143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttgtgatagaggtagatGagccgctcgatcacctccat	11	10	10	10	2	1	4	1	2	0	2	3	5	2	4	3	1	2	2	3	1	3	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:127289143G>A	ENST00000487099.2	-	8	1273	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	NR6A1_ENST00000416460.2_Silent_p.L367L|NR6A1_ENST00000373584.3_Silent_p.L368L|NR6A1_ENST00000344523.4_Silent_p.L371L	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	372					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						AGAGGTAGATGAGCCGCTCGA	0.493													11	146					0	0	0	0	A	127289143	G	A	127289143	2	1	235	1	0	0	0	0	0	0	0	1	10708	1277	45	2		2	NR6A1	9	127289143	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	13726303	127289143	13924288	78	42951											
ZBTB43	23099	broad.mit.edu	37	chr9	129595320	129595320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagagatggtgaaaatgaaGaggagagcaccaaagacgag	18	4	15	4	1	0	7	0	3	0	4	0	10	0	7	1	2	1	1	1	2	4	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:129595320G>C	ENST00000373464.4	+	3	796	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	ZBTB43_ENST00000449886.1_Missense_Mutation_p.E178Q|ZBTB43_ENST00000373457.1_Missense_Mutation_p.E178Q	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGAAAATGAAGAGGAGAGCAC	0.532													7	64					0	0	0	0	C	129595320	G	C	129595320	3	2	235	1	0	0	0	0	1	0	0	0	17639	943	33	2	534	2	ZBTB43	9	129595320	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	2306177	129595320	11618111	79	42952											
RALGPS1	9649	broad.mit.edu	37	chr9	129937010	129937010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagactgtcgctcagaatcGaaccaggaagcagctctcca	12	7	9	13	2	3	2	2	0	1	2	6	4	3	3	2	1	3	3	2	1	3	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:129937010G>A	ENST00000259351.5	+	11	1126	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	RALGPS1_ENST00000424082.2_Missense_Mutation_p.E287K|RALGPS1_ENST00000394022.3_Missense_Mutation_p.E287K|RALGPS1_ENST00000373434.1_Missense_Mutation_p.E287K|RALGPS1_ENST00000373436.1_Missense_Mutation_p.E287K	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	287	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTCAGAATCGAACCAGGAAG	0.463													14	190					0	0	0	0	A	129937010	G	A	129937010	3	1	235	1	0	0	0	0	1	0	0	0	13099	1059	37	1	897	1	RALGPS1	9	129937010	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	341690	129937010	11276421	80	42953											
FAM73B	84895	broad.mit.edu	37	chr9	131830488	131830488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctgtaggtggtatgcatGagcttcttcgacatcgtgct	6	14	11	10	2	2	1	0	1	2	0	4	2	2	1	1	2	3	5	1	2	2	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:131830488G>A	ENST00000358369.4	+	13	1507	c.1281G>A	c.(1279-1281)atG>atA	p.M427I	FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	427						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TGGTATGCATGAGCTTCTTCG	0.647													33	151					0	0	0	0	A	131830488	G	A	131830488	3	1	235	1	0	0	0	0	1	0	0	0	5664	1290	45	2	1327	2	FAM73B	9	131830488	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	1893478	131830488	9382943	81	42954											
BARHL1	56751	broad.mit.edu	37	chr9	135462894	135462894	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagctcgccgcctcgctCaacctcaccgacacgcaggt	8	6	10	17	5	2	0	2	0	0	0	4	2	2	1	4	2	2	3	4	2	1	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:135462894C>T	ENST00000263610.2	+	2	1258	c.645C>T	c.(643-645)ctC>ctT	p.L215L	BARHL1_ENST00000542090.1_Silent_p.L215L	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	215						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CCGCCTCGCTCAACCTCACCG	0.647													4	22					0	0	0	0	T	135462894	C	T	135462894	2	4	235	1	0	0	0	0	0	0	0	1	1317	813	29	2		2	BARHL1	9	135462894	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	3632406	135462894	5750537	82	42955											
VAV2	7410	broad.mit.edu	37	chr9	136671217	136671217	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcacctttccttgaaatcGaggaagaccttggccagcgt	10	10	9	12	2	1	2	1	1	0	1	3	4	2	3	4	2	1	0	4	2	2	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:136671217G>A	ENST00000371851.1	-	8	1132	c.807C>T	c.(805-807)ctC>ctT	p.L269L	VAV2_ENST00000371850.3_Silent_p.L274L|VAV2_ENST00000406606.3_Silent_p.L269L			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	274	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCTTGAAATCGAGGAAGACCT	0.587													4	36					0	0	0	0	A	136671217	G	A	136671217	2	1	235	1	0	0	0	0	0	0	0	1	17228	1045	37	1		1	VAV2	9	136671217	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	1208323	136671217	4542214	83	42956											
KIAA1984	84960	broad.mit.edu	37	chr9	139701235	139701235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtgctctccaacaccctCgatttgaacagcaagctggc	9	9	10	13	1	1	1	0	1	1	0	3	2	1	1	2	2	5	3	2	2	3	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:139701235C>T	ENST00000338005.6	+	12	1340	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	435										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCAACACCCTCGATTTGAACA	0.632													4	80					0	0	0	0	T	139701235	C	T	139701235	2	4	235	1	0	0	0	0	0	0	0	1	8317	871	31	1		1	KIAA1984	9	139701235	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	3030018	139701235	1512196	84	42957											
SEC61A2	55176	broad.mit.edu	37	chr10	12197928	12197928	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactaccattaacactggcaGaggtacatcgcacagcgact	13	7	8	13	2	0	1	0	0	0	1	1	2	0	1	1	2	4	3	1	2	3	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr10:12197928G>C	ENST00000379033.3	+	6	695	c.548G>C	c.(547-549)aGa>aCa	p.R183T	SEC61A2_ENST00000298428.9_Missense_Mutation_p.R205T|SEC61A2_ENST00000304267.8_Missense_Mutation_p.R205T|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379020.4_Missense_Mutation_p.R205T	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	205						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				AACACTGGCAGAGGTACATCG	0.522													15	83					0	0	0	0	C	12197928	G	C	12197928	3	2	235	1	0	0	0	0	1	0	0	0	14088	942	33	2	640	2	SEC61A2	10	12197928	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08		12197928	123336819	85	42958											
TYSND1	219743	broad.mit.edu	37	chr10	71902546	71902546	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacagccgaaaggatgcctGaggtcaccgagggcccgcaa	11	3	13	14	3	1	1	1	1	0	0	1	4	1	2	5	3	2	1	5	3	2	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr10:71902546G>C	ENST00000287078.6	-	3	1360	c.1361C>G	c.(1360-1362)tCa>tGa	p.S454*	TYSND1_ENST00000335494.5_Intron|TYSND1_ENST00000494143.1_5'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	454	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						AAGGATGCCTGAGGTCACCGA	0.642													5	32					0	0	0	0	C	71902546	G	C	71902546	4	2	235	1	0	0	0	0	0	1	0	0	16913	1294	45	2	347	2	TYSND1	10	71902546	Nonsense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	59704618	71902546	63632201	86	42959											
ZNF518A	9849	broad.mit.edu	37	chr10	97920007	97920007	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaacctgaagatgtccgtGaaacatttggatttagcaga	15	10	9	7	1	0	4	0	2	0	2	1	5	1	5	2	1	3	1	2	1	5	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr10:97920007G>A	ENST00000534948.1	+	0	4785							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AGATGTCCGTGAAACATTTGG	0.388													5	48					0	0	0	0	A	97920007	G	A	97920007	1	1	235	0	1	0	0	0	0	0	0	0	18057	1291	45	2		2	ZNF518A	10	97920007	RNA	SNP	G	TCGA-CV-5444-01A-02D-1512-08	26017461	97920007	37614740	87	42960											
ZNF214	7761	broad.mit.edu	37	chr11	7022446	7022446	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaaaccatgtgaaccactCatgtagatttctctaccata	14	12	5	10	0	2	3	1	2	1	1	3	3	2	3	3	0	3	1	3	0	6	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:7022446C>G	ENST00000278314.4	-	3	783	c.468G>C	c.(466-468)atG>atC	p.M156I	ZNF214_ENST00000536068.1_Missense_Mutation_p.M156I	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M156I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GTGAACCACTCATGTAGATTT	0.383													35	124					0	0	0	0	G	7022446	C	G	7022446	3	3	235	1	0	0	0	0	1	0	0	0	17865	826	29	2	1356	2	ZNF214	11	7022446	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08		7022446	127984070	88	42961											
TUB	7275	broad.mit.edu	37	chr11	8118955	8118955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctactttctgcacctggacCgtgaggatgggaagaaggta	10	9	13	9	1	1	2	0	1	1	1	1	5	1	5	3	4	2	2	3	4	4	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:8118955C>T	ENST00000305253.4	+	8	1274	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	TUB_ENST00000534099.1_Missense_Mutation_p.R296C|TUB_ENST00000299506.2_Missense_Mutation_p.R290C	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	290					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GCACCTGGACCGTGAGGATGG	0.542													11	92					0	0	0	0	T	8118955	C	T	8118955	3	4	235	1	0	0	0	0	1	0	0	0	16838	652	23	1	1105	1	TUB	11	8118955	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	1096509	8118955	126887561	89	42962											
LDHA	3939	broad.mit.edu	37	chr11	18422455	18422455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcaagagggagaaagcCgtcttaatttggtccagcgt	11	9	13	8	2	2	2	1	0	1	2	3	3	3	2	2	2	3	1	2	2	3	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:18422455C>T	ENST00000422447.3	+	4	589	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	LDHA_ENST00000227157.4_Missense_Mutation_p.R106C|LDHA_ENST00000430553.2_Intron|LDHA_ENST00000542179.1_Missense_Mutation_p.R106C|LDHA_ENST00000396222.2_Missense_Mutation_p.R106C|LDHA_ENST00000540430.1_Missense_Mutation_p.R135C|LDHA_ENST00000379412.5_Missense_Mutation_p.R106C	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	106					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	GGGAGAAAGCCGTCTTAATTT	0.413													4	52					0	0	0	0	T	18422455	C	T	18422455	3	4	235	1	0	0	0	0	1	0	0	0	8751	652	23	1	417	1	LDHA	11	18422455	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	10303500	18422455	116584061	90	42963											
DGKZ	8525	broad.mit.edu	37	chr11	46389294	46389294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtactgtgtagccaggatGctggtgagtgctcgtagggg	7	10	17	7	1	0	1	0	1	0	0	1	2	0	2	1	4	4	5	1	4	3	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:46389294G>A	ENST00000454345.1	+	4	1055	c.930G>A	c.(928-930)atG>atA	p.M310I	DGKZ_ENST00000343674.6_Missense_Mutation_p.M138I|DGKZ_ENST00000318201.8_Missense_Mutation_p.M121I|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Missense_Mutation_p.M121I|DGKZ_ENST00000532868.2_Missense_Mutation_p.M125I|DGKZ_ENST00000456247.2_Missense_Mutation_p.M121I|DGKZ_ENST00000421244.2_Missense_Mutation_p.M121I|DGKZ_ENST00000395574.3_Missense_Mutation_p.M87I	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	310					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TAGCCAGGATGCTGGTGAGTG	0.642											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	18					0	0	0	0	A	46389294	G	A	46389294	3	1	235	1	0	0	0	0	1	0	0	0	4511	1319	46	4	1384	4	DGKZ	11	46389294	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	27966839	46389294	88617222	91	42964											
DGKZ	8525	broad.mit.edu	37	chr11	46400012	46400012	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtattccgtgcaggtgaaGagctgattgaggctgccaag	10	9	15	7	1	0	4	0	3	0	1	1	4	1	4	2	3	3	4	2	3	3	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:46400012G>T	ENST00000454345.1	+	28	3069	c.2944G>T	c.(2944-2946)Gag>Tag	p.E982*	DGKZ_ENST00000343674.6_Nonsense_Mutation_p.E810*|DGKZ_ENST00000318201.8_Nonsense_Mutation_p.E771*|DGKZ_ENST00000528615.1_Nonsense_Mutation_p.E572*|DGKZ_ENST00000543978.1_Nonsense_Mutation_p.E146*|DGKZ_ENST00000527911.1_Nonsense_Mutation_p.E794*|DGKZ_ENST00000532868.2_Nonsense_Mutation_p.E798*|DGKZ_ENST00000456247.2_Nonsense_Mutation_p.E793*|DGKZ_ENST00000421244.2_Nonsense_Mutation_p.E794*|DGKZ_ENST00000395574.3_Nonsense_Mutation_p.E760*	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	982					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGCAGGTGAAGAGCTGATTGA	0.622													9	59					3.07112e-06	3.31486e-06	1	0	T	46400012	G	T	46400012	4	4	235	1	0	0	0	0	0	1	0	0	4511	943	33	2	3497	2	DGKZ	11	46400012	Nonsense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	10718	46400012	88606504	92	42965											
DDB2	1643	broad.mit.edu	37	chr11	47256845	47256845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcagtcccgatggagcccGgctcctgaccacggaccaga	8	7	11	15	3	1	2	1	1	0	1	3	5	3	4	5	3	1	1	5	3	0	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:47256845G>A	ENST00000256996.4	+	7	1100	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	DDB2_ENST00000378603.3_Missense_Mutation_p.R238Q|DDB2_ENST00000378601.3_Missense_Mutation_p.G243S|DDB2_ENST00000378600.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	302					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GATGGAGCCCGGCTCCTGACC	0.612			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	131					0	0	0	0	A	47256845	G	A	47256845	3	1	235	1	0	0	0	0	1	0	0	0	4356	1116	39	1	931	1	DDB2	11	47256845	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	856833	47256845	87749671	93	42966											
OR4S1	256148	broad.mit.edu	37	chr11	48328525	48328525	+	Frame_Shift_Del	DEL	C	C	-																															ctgtccttttggttctcatgCcccccatgttcatgtacatt																										TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:48328525delC	ENST00000319988.1	+	1	751	c.751delC	c.(751-753)ccfs	p.P252fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GGTTCTCATGCCCCCCATGTT	0.483													27	138	---	---	---	---					-	48328525	C	-	48328525	7	5	235	1	0	1	0	1	0	0	0	0	11153	739	26	0	753	0	OR4S1	11	48328525	Frame_Shift_Del	DEL	C	TCGA-CV-5444-01A-02D-1512-08	1071680	48328525	86677991	94	42967											
PPP2R5B	5526	broad.mit.edu	37	chr11	64698016	64698016	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttcctggttcgcgtcctGatccccctgcactctgtcaa	5	12	8	16	2	2	1	1	1	1	0	6	1	5	1	4	1	1	3	4	1	1	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:64698016G>A	ENST00000164133.2	+	8	1468	c.846G>A	c.(844-846)ctG>ctA	p.L282L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	282					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TTCGCGTCCTGATCCCCCTGC	0.612													7	77					0	0	0	0	A	64698016	G	A	64698016	2	1	235	1	0	0	0	0	0	0	0	1	12469	1277	45	2		2	PPP2R5B	11	64698016	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	16369491	64698016	70308500	95	42968											
CTTN	2017	broad.mit.edu	37	chr11	70281210	70281210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacgacggctggtggcgcgGggtgtgcaagggccggtacg	5	6	21	9	6	0	1	0	1	0	0	0	2	0	1	1	7	2	3	1	7	2	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:70281210G>T	ENST00000346329.3	+	17	1792	c.1484G>T	c.(1483-1485)gGg>gTg	p.G495V	CTTN_ENST00000376561.3_Missense_Mutation_p.G495V|CTTN_ENST00000301843.8_Missense_Mutation_p.G532V|CTTN_ENST00000538675.1_Missense_Mutation_p.G216V	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	532	SH3.			I -> Y (in Ref. 1; AAA58455).		cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGGTGGCGCGGGGTGTGCAAG	0.617													17	62					0.160694	0.163093	1	0	T	70281210	G	T	70281210	3	4	235	1	0	0	0	0	1	0	0	0	4076	1232	43	4	1657	4	CTTN	11	70281210	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	5583194	70281210	64725306	96	42969											
ARHGEF17	9828	broad.mit.edu	37	chr11	73067756	73067756	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtccctcctgtcccacagctCcaggcccctctgcggcggtt	3	9	10	19	2	1	0	0	0	1	0	5	0	5	0	6	3	2	2	6	3	0	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:73067756C>G	ENST00000263674.3	+	7	4193	c.3843C>G	c.(3841-3843)ctC>ctG	p.L1281L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1281					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCCCACAGCTCCAGGCCCCTC	0.572													4	60					0	0	0	0	G	73067756	C	G	73067756	2	3	235	1	0	0	0	0	0	0	0	1	902	842	30	2		2	ARHGEF17	11	73067756	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	2786546	73067756	61938760	97	42970											
OR8B4	283162	broad.mit.edu	37	chr11	124294096	124294096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctgcagaaggaatacagagGatgttggagagtatcaaagc	15	8	13	5	0	2	3	1	0	1	3	2	6	2	5	0	3	3	3	0	3	5	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:124294096G>C	ENST00000356130.3	-	1	693	c.672C>G	c.(670-672)atC>atG	p.I224M		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GAATACAGAGGATGTTGGAGA	0.458													4	38					0	0	0	0	C	124294096	G	C	124294096	3	2	235	1	0	0	0	0	1	0	0	0	11300	1164	41	2	259	2	OR8B4	11	124294096	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	51226340	124294096	10712420	98	42971											
IGSF9B	22997	broad.mit.edu	37	chr11	133789939	133789939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctctgcctgctgcaggagGcccgggcgaggccgggcacg	5	5	17	14	4	1	0	0	0	1	0	2	2	1	1	3	5	3	3	3	5	0	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:133789939G>A	ENST00000321016.8	-	18	3911	c.3681C>T	c.(3679-3681)ggC>ggT	p.G1227G	IGSF9B_ENST00000533871.2_Silent_p.G1227G			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1227	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTGCAGGAGGCCCGGGCGAG	0.687													10	36					0	0	0	0	A	133789939	G	A	133789939	2	1	235	1	0	0	0	0	0	0	0	1	7659	1190	42	4		4	IGSF9B	11	133789939	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	9495843	133789939	1216577	99	42972											
NINJ2	4815	broad.mit.edu	37	chr12	675230	675230	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccagcaccgccttcaGccgcatggcgttggacatga	7	8	11	15	3	1	1	1	1	0	0	2	2	2	2	4	2	3	4	4	2	0	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:675230G>A	ENST00000305108.4	-	2	566	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000433832.2_Silent_p.L14L|NINJ2_ENST00000542920.1_Silent_p.L14L|NINJ2_ENST00000397265.3_Silent_p.L43L	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	50					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			ACCGCCTTCAGCCGCATGGCG	0.612													12	43					0	0	0	0	A	675230	G	A	675230	2	1	235	1	0	0	0	0	0	0	0	1	10489	962	34	4		4	NINJ2	12	675230	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08		675230	133176665	100	42973											
CASC1	55259	broad.mit.edu	37	chr12	25272139	25272139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattacattctcatgaacctCaagtgtgacctctataggtg	11	13	8	9	0	3	2	2	2	2	0	4	3	3	2	2	1	2	0	2	1	5	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:25272139C>G	ENST00000354189.5	-	12	1545	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	CASC1_ENST00000395990.2_Missense_Mutation_p.E400Q|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Missense_Mutation_p.E381Q|CASC1_ENST00000537577.1_Missense_Mutation_p.E328Q|CASC1_ENST00000395987.3_Missense_Mutation_p.E446Q|CASC1_ENST00000320267.9_Missense_Mutation_p.E440Q	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	440										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCATGAACCTCAAGTGTGACC	0.373													5	68					0	0	0	0	G	25272139	C	G	25272139	3	3	235	1	0	0	0	0	1	0	0	0	2685	835	29	2	852	2	CASC1	12	25272139	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	24596909	25272139	108579756	101	42974											
LRRK2	120892	broad.mit.edu	37	chr12	40745387	40745387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attagtctgtctgacgagacGcattttattacctaaaaacg	13	13	7	8	3	2	2	0	1	2	1	2	3	2	2	1	0	2	1	1	0	6	5			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:40745387G>A	ENST00000298910.7	+	44	6486	c.6428G>A	c.(6427-6429)cGc>cAc	p.R2143H		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2143			R -> H (in PARK8).		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.R2150H(1)|p.R2143H(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGACGAGACGCATTTTATTA	0.398													13	53					0	0	0	0	A	40745387	G	A	40745387	3	1	235	1	0	0	0	0	1	0	0	0	9097	1087	38	1	6602	1	LRRK2	12	40745387	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	15473248	40745387	93106508	102	42975											
KRT4	3851	broad.mit.edu	37	chr12	53207700	53207700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggttgtagaggcttctgctgCcaaatcccccagaagagcat	10	9	11	11	0	1	3	0	0	1	3	2	3	2	3	3	2	3	5	3	2	3	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:53207700C>T	ENST00000551956.1	-	1	635	c.143G>A	c.(142-144)gGc>gAc	p.G48D	KRT4_ENST00000458244.2_Missense_Mutation_p.G48D|KRT4_ENST00000293774.4_Missense_Mutation_p.G122D			B4DRS2	B4DRS2_HUMAN	keratin 4	48						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTTCTGCTGCCAAATCCCCC	0.587													35	103					0	0	0	0	T	53207700	C	T	53207700	3	4	235	1	0	0	0	0	1	0	0	0	8529	739	26	4	1455	4	KRT4	12	53207700	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	12462313	53207700	80644195	103	42976											
USP15	9958	broad.mit.edu	37	chr12	62715321	62715321	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agattgtggaacaaatacatGagtaacacatttgaaccact	17	10	7	7	0	0	3	0	2	0	1	0	4	0	4	1	1	4	1	1	1	5	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:62715321G>C	ENST00000280377.5	+	5	610	c.552G>C	c.(550-552)atG>atC	p.M184I	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.M184I|USP15_ENST00000353364.3_Missense_Mutation_p.M184I|USP15_ENST00000312635.6_Missense_Mutation_p.M184I	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	184					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACAAATACATGAGTAACACAT	0.328													6	42					0	0	0	0	C	62715321	G	C	62715321	3	2	235	1	0	0	0	0	1	0	0	0	17142	1290	45	2	570	2	USP15	12	62715321	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	9507621	62715321	71136574	104	42977											
MLXIP	22877	broad.mit.edu	37	chr12	122622100	122622100	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctccccagaacaactgctCagggaaatccgaccccaaaa	15	5	6	15	1	2	1	1	0	1	1	4	3	3	2	5	1	3	1	5	1	5	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:122622100C>G	ENST00000319080.6	+	12	2249	c.2117C>G	c.(2116-2118)tCa>tGa	p.S706*	MLXIP_ENST00000538698.1_Nonsense_Mutation_p.S313*			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		AACAACTGCTCAGGGAAATCC	0.567													13	136					0	0	0	0	G	122622100	C	G	122622100	4	3	235	1	0	0	0	0	0	1	0	0	9705	838	29	2	2163	2	MLXIP	12	122622100	Nonsense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	59906779	122622100	11229795	105	42978											
RNF17	56163	broad.mit.edu	37	chr13	25376549	25376549	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggaagaggaagctaaagtgGaatttttgaaaatggtaaat	17	10	13	1	0	0	2	0	1	0	1	0	5	0	5	0	4	1	2	0	4	9	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:25376549G>C	ENST00000255324.5	+	14	1841	c.1789G>C	c.(1789-1791)Gaa>Caa	p.E597Q	RNF17_ENST00000381921.1_Missense_Mutation_p.E597Q|RNF17_ENST00000255325.5_Missense_Mutation_p.E598Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	597					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)		AGCTAAAGTGGAATTTTTGAA	0.333													6	65					0	0	0	0	C	25376549	G	C	25376549	3	2	235	1	0	0	0	0	1	0	0	0	13546	1175	41	2	1843	2	RNF17	13	25376549	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08		25376549	89793329	106	42979											
FREM2	341640	broad.mit.edu	37	chr13	39266631	39266631	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctggacaaaggcaaccAcagcatcactcagttcacac	15	5	6	15	0	3	0	3	0	0	0	3	1	3	1	2	2	3	3	2	2	3	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:39266631A>T	ENST00000280481.7	+	1	5366	c.5150A>T	c.(5149-5151)cAc>cTc	p.H1717L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1717					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAAGGCAACCACAGCATCACT	0.428													8	91					0	0	0	0	T	39266631	A	T	39266631	3	4	235	1	0	0	0	0	1	0	0	0	6093	159	6	5	5152	5	FREM2	13	39266631	Missense_Mutation	SNP	A	TCGA-CV-5444-01A-02D-1512-08	13890082	39266631	75903247	107	42980											
FREM2	341640	broad.mit.edu	37	chr13	39430346	39430346	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagagagatgagagaggccTtcactgttcacctaaaacct	13	9	10	9	0	2	4	2	2	0	3	2	7	2	4	3	1	1	1	3	1	2	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:39430346T>A	ENST00000280481.7	+	12	7225	c.7009T>A	c.(7009-7011)Ttc>Atc	p.F2337I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2337	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGAGAGGCCTTCACTGTTCA	0.403													7	66					0	0	0	0	A	39430346	T	A	39430346	3	1	235	1	0	0	0	0	1	0	0	0	6093	1609	56	5	7055	5	FREM2	13	39430346	Missense_Mutation	SNP	T	TCGA-CV-5444-01A-02D-1512-08	163715	39430346	75739532	108	42981											
FOXO1	2308	broad.mit.edu	37	chr13	41134162	41134162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttctggcccagaacccggCtgttgggctgggctacccca	5	8	13	15	2	1	1	0	0	1	1	1	1	1	1	4	4	2	5	4	4	2	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:41134162C>T	ENST00000379561.5	-	2	1850	c.1466G>A	c.(1465-1467)aGc>aAc	p.S489N		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	489					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CAGAACCCGGCTGTTGGGCTG	0.522													12	79					0	0	0	0	T	41134162	C	T	41134162	3	4	235	1	0	0	0	0	1	0	0	0	6070	797	28	4	505	4	FOXO1	13	41134162	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	1703816	41134162	74035716	109	42982											
ANKRD10	55608	broad.mit.edu	37	chr13	111558412	111558412	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattcgccacaagggcactGatgcattctaggctcccaga	10	8	9	14	1	1	2	0	1	1	1	3	2	2	2	3	2	1	3	3	2	2	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:111558412G>A	ENST00000375758.5	-	3	557	c.423C>T	c.(421-423)atC>atT	p.I141I	ANKRD10_ENST00000310847.4_Silent_p.I141I|ANKRD10_ENST00000489973.2_5'UTR|ANKRD10_ENST00000267339.2_Silent_p.I141I			Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	141										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			CAAGGGCACTGATGCATTCTA	0.433													3	14					0	0	0	0	A	111558412	G	A	111558412	2	1	235	1	0	0	0	0	0	0	0	1	638	1280	45	2		2	ANKRD10	13	111558412	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	70424250	111558412	3611466	110	42983											
TINF2	26277	broad.mit.edu	37	chr14	24711353	24711353	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgctccaataccttggcCtttaggcccatacaaaggcg	10	10	8	13	1	0	0	0	0	0	0	1	0	1	0	4	3	3	1	4	3	5	6			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:24711353C>T	ENST00000399423.4	-	1	516	c.186G>A	c.(184-186)aaG>aaA	p.K62K	TINF2_ENST00000540705.1_Silent_p.K62K|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000559019.1_Silent_p.K62K|TINF2_ENST00000558566.1_Silent_p.K62K|TINF2_ENST00000267415.7_Silent_p.K62K|TINF2_ENST00000558510.1_5'UTR	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	62					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		ATACCTTGGCCTTTAGGCCCA	0.562									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome		OREG0022621	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	88					0	0	0	0	T	24711353	C	T	24711353	2	4	235	1	0	0	0	0	0	0	0	1	16017	680	24	4		4	TINF2	14	24711353	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08		24711353	82638187	111	42984											
FOXG1	2290	broad.mit.edu	37	chr14	29237058	29237058	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctacaacgcgctcatcatGatggccatccggcagagccc	10	6	10	15	3	2	2	2	1	0	1	3	2	3	2	3	2	4	3	3	2	2	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:29237058G>C	ENST00000382535.3	+	2	942	c.573G>C	c.(571-573)atG>atC	p.M191I	FOXG1_ENST00000313071.4_Missense_Mutation_p.M191I			P55316	FOXG1_HUMAN	forkhead box G1	191					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CGCTCATCATGATGGCCATCC	0.617													4	40					0	0	0	0	C	29237058	G	C	29237058	3	2	235	1	0	0	0	0	1	0	0	0	6054	1290	45	2	575	2	FOXG1	14	29237058	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	4525705	29237058	78112482	112	42985											
SMOC1	64093	broad.mit.edu	37	chr14	70418890	70418890	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgtgacccacagtgcaacctCcactgctccaggactcaacc	10	6	7	18	1	1	1	1	1	0	0	3	2	3	2	5	1	4	2	5	1	2	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:70418890C>G	ENST00000381280.4	+	2	388	c.135C>G	c.(133-135)ctC>ctG	p.L45L	SMOC1_ENST00000361956.3_Silent_p.L45L|SMOC1_ENST00000555917.1_3'UTR	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	45	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGTGCAACCTCCACTGCTCCA	0.522													26	94					0	0	0	0	G	70418890	C	G	70418890	2	3	235	1	0	0	0	0	0	0	0	1	14889	842	30	2		2	SMOC1	14	70418890	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	41181832	70418890	36930650	113	42986											
ZFYVE1	53349	broad.mit.edu	37	chr14	73448574	73448574	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcgccatctggtcatcgggGatctcaccgctgaagcggtc	6	9	13	13	4	3	1	2	1	2	0	6	2	3	2	2	4	2	1	2	4	1	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:73448574G>A	ENST00000556143.1	-	5	1953	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	ZFYVE1_ENST00000318876.5_Silent_p.I411I|ZFYVE1_ENST00000555072.1_5'UTR|ZFYVE1_ENST00000553891.1_Silent_p.I411I|ZFYVE1_ENST00000394207.2_5'UTR	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	411						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGTCATCGGGGATCTCACCGC	0.577													5	79					0	0	0	0	A	73448574	G	A	73448574	2	1	235	1	0	0	0	0	0	0	0	1	17758	1164	41	2		2	ZFYVE1	14	73448574	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	3029684	73448574	33900966	114	42987											
TRIP11	9321	broad.mit.edu	37	chr14	92471271	92471271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcactaatctttccgtttCagctttagataaatcatgct	10	18	4	9	1	4	1	3	0	1	1	5	1	5	1	1	0	2	3	1	0	4	7			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:92471271C>T	ENST00000267622.4	-	11	3422	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1017					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTCCGTTTCAGCTTTAGAT	0.303			T	PDGFRB	AML								6	63					0	0	0	0	T	92471271	C	T	92471271	3	4	235	1	0	0	0	0	1	0	0	0	16650	835	29	2	2934	2	TRIP11	14	92471271	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	19022697	92471271	14878269	115	42988											
DICER1	23405	broad.mit.edu	37	chr14	95562276	95562276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaaccccgatataaggtGattcagtgttttatctgcat	11	15	7	8	1	3	1	2	1	1	0	3	2	3	1	2	1	2	2	2	1	4	6			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:95562276G>A	ENST00000526495.1	-	25	5272	c.4981C>T	c.(4981-4983)Cac>Tac	p.H1661Y	DICER1_ENST00000393063.1_Missense_Mutation_p.H1661Y|DICER1_ENST00000541352.1_Missense_Mutation_p.H1661Y|DICER1_ENST00000343455.3_Missense_Mutation_p.H1661Y|DICER1_ENST00000527414.1_Missense_Mutation_p.H1661Y|DICER1_ENST00000556045.1_Missense_Mutation_p.H559Y			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1661					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GATATAAGGTGATTCAGTGTT	0.378			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				20	126					0	0	0	0	A	95562276	G	A	95562276	3	1	235	1	0	0	0	0	1	0	0	0	4558	1290	45	2	807	2	DICER1	14	95562276	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	3091005	95562276	11787264	116	42989											
DYNC1H1	1778	broad.mit.edu	37	chr14	102508999	102508999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatctgctccgtgcgggcCgcatctttgtgttcgagcca	5	12	12	12	4	2	1	0	1	2	0	4	2	3	1	3	1	3	3	3	1	1	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:102508999C>T	ENST00000360184.4	+	69	12591	c.12427C>T	c.(12427-12429)Cgc>Tgc	p.R4143C	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4143	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCGTGCGGGCCGCATCTTTGT	0.582													7	63					0	0	0	0	T	102508999	C	T	102508999	3	4	235	1	0	0	0	0	1	0	0	0	4877	652	23	1	12701	1	DYNC1H1	14	102508999	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	6946723	102508999	4840541	117	42990											
AHNAK2	113146	broad.mit.edu	37	chr14	105412495	105412495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctccacgtcgggggccGtcacgtccgtcttcgggcct	4	8	12	17	6	2	0	1	0	1	0	6	0	4	0	5	3	0	0	5	3	0	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:105412495G>A	ENST00000333244.5	-	7	9412	c.9293C>T	c.(9292-9294)aCg>aTg	p.T3098M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3098						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGGGGCCGTCACGTCCGT	0.627													39	236					0	0	0	0	A	105412495	G	A	105412495	3	1	235	1	0	0	0	0	1	0	0	0	415	1145	40	1	8098	1	AHNAK2	14	105412495	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	2903496	105412495	1937045	118	42991											
ZFYVE19	84936	broad.mit.edu	37	chr15	41099536	41099536	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaggaccgccagacctctCaagatcagccttcctcgcca	10	6	9	16	2	2	2	2	0	1	2	5	4	3	4	6	2	1	0	6	2	2	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:41099536C>G	ENST00000336455.5	+	1	105	c.50C>G	c.(49-51)tCa>tGa	p.S17*	ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000355341.4_5'UTR|DNAJC17_ENST00000220496.4_Intron|ZFYVE19_ENST00000570108.1_Nonsense_Mutation_p.S17*	NM_032850.4	NP_116239.3	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	0							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCAGACCTCTCAAGATCAGCC	0.622													4	25					0	0	0	0	G	41099536	C	G	41099536	4	3	235	1	0	0	0	0	0	1	0	0	17760	841	29	2		2	ZFYVE19	15	41099536	Nonsense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08		41099536	61431856	119	42992											
PLA2G4F	255189	broad.mit.edu	37	chr15	42442333	42442333	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttcatgctcagagccacctCctggccctgaaagacacagc	10	7	8	16	0	2	3	2	1	0	2	3	3	3	3	4	1	3	1	4	1	1	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:42442333C>G	ENST00000397272.3	-	10	983	c.892G>C	c.(892-894)Gag>Cag	p.E298Q	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.E298Q	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	298					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGAGCCACCTCCTGGCCCTGA	0.617													3	37					0	0	0	0	G	42442333	C	G	42442333	3	3	235	1	0	0	0	0	1	0	0	0	12078	864	30	2	1701	2	PLA2G4F	15	42442333	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	1342797	42442333	60089059	120	42993											
TP53BP1	7158	broad.mit.edu	37	chr15	43730581	43730581	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcttgcctggcttcacaGatacagctcaacacagacat	11	11	6	13	0	3	2	2	0	1	2	4	2	3	2	1	1	4	2	1	1	2	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:43730581G>C	ENST00000263801.3	-	16	3369	c.3117C>G	c.(3115-3117)atC>atG	p.I1039M	TP53BP1_ENST00000382039.3_Missense_Mutation_p.I1044M|TP53BP1_ENST00000450115.2_Missense_Mutation_p.I1044M|TP53BP1_ENST00000382044.4_Missense_Mutation_p.I1044M	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1039					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGGCTTCACAGATACAGCTCA	0.398								Other conserved DNA damage response genes					15	71					0	0	0	0	C	43730581	G	C	43730581	3	2	235	1	0	0	0	0	1	0	0	0	16478	932	33	2	2853	2	TP53BP1	15	43730581	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	1288248	43730581	58800811	121	42994											
NEO1	4756	broad.mit.edu	37	chr15	73581580	73581580	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactcccagccaccccagcGtaagtagaagcatctctttt	10	10	7	14	1	1	2	0	1	1	1	3	2	2	2	4	0	3	3	4	0	3	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:73581580G>A	ENST00000339362.5	+	26	4189		c.e26+1		NEO1_ENST00000560262.1_Splice_Site|NEO1_ENST00000261908.6_Splice_Site|NEO1_ENST00000558964.1_Splice_Site			Q92859	NEO1_HUMAN	neogenin 1						axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCACCCCAGCGTAAGTAGAAG	0.458													4	27					0	0	0	0	A	73581580	G	A	73581580	5	1	235	1	0	0	0	0	0	0	1	0	10406	1159	40	1	3841	1	NEO1	15	73581580	Splice_Site	SNP	G	TCGA-CV-5444-01A-02D-1512-08	29850999	73581580	28949812	122	42995											
SYNM	23336	broad.mit.edu	37	chr15	99672808	99672808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacagaaacggaaacctctGaacacattgccatccgtgga	14	7	8	12	2	1	2	0	1	1	1	2	4	2	4	3	2	5	0	3	2	4	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:99672808G>A	ENST00000336292.6	+	5	4360	c.4240G>A	c.(4240-4242)Gaa>Aaa	p.E1414K	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1415	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGAAACCTCTGAACACATTGC	0.527													29	249					0	0	0	0	A	99672808	G	A	99672808	3	1	235	1	0	0	0	0	1	0	0	0	15546	1291	45	2	4256	2	SYNM	15	99672808	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	26091228	99672808	2858584	123	42996											
PRSS36	146547	broad.mit.edu	37	chr16	31151714	31151714	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagattcgttgtgtcaagatGgagacagcagcagccacagg	12	7	13	9	1	1	3	1	0	0	3	2	4	1	3	1	2	3	3	1	2	1	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr16:31151714G>A	ENST00000268281.4	-	14	2248	c.2190C>T	c.(2188-2190)tcC>tcT	p.S730S	PRSS36_ENST00000569305.1_Silent_p.S725S|PRSS36_ENST00000418068.2_Intron	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	730	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GTGTCAAGATGGAGACAGCAG	0.592													6	63					0	0	0	0	A	31151714	G	A	31151714	2	1	235	1	0	0	0	0	0	0	0	1	12704	1335	47	4		4	PRSS36	16	31151714	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08		31151714	59203039	124	42997											
PYDC1	260434	broad.mit.edu	37	chr16	31228221	31228221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgatatctagctgcccgagCgcgccccgcgggatgcgctc	6	6	13	16	7	1	0	0	0	1	0	2	3	1	1	3	1	4	2	3	1	2	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr16:31228221C>T	ENST00000302964.3	-	1	459	c.129G>A	c.(127-129)gcG>gcA	p.A43A	TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	43	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCTGCCCGAGCGCGCCCCGCG	0.647													5	64					0	0	0	0	T	31228221	C	T	31228221	2	4	235	1	0	0	0	0	0	0	0	1	12940	755	27	1		1	PYDC1	16	31228221	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	76507	31228221	59126532	125	42998											
NKD1	85407	broad.mit.edu	37	chr16	50667326	50667326	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcactttgtgaggtccccCaaggcccagggcaagagtgt	10	7	13	11	0	0	2	0	1	0	1	1	2	1	2	3	3	1	2	3	3	3	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr16:50667326C>A	ENST00000268459.3	+	10	1271	c.1047C>A	c.(1045-1047)ccC>ccA	p.P349P		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	349					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TGAGGTCCCCCAAGGCCCAGG	0.667													6	59					5.18039e-06	5.5621e-06	1	0	A	50667326	C	A	50667326	2	1	235	1	0	0	0	0	0	0	0	1	10511	581	21	4		4	NKD1	16	50667326	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	19439105	50667326	39687427	126	42999											
NUTF2	10204	broad.mit.edu	37	chr16	67899106	67899106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actaccagttatttgataatGatagaacccaactaggcgca	15	10	7	9	1	0	3	0	2	0	1	0	3	0	3	2	1	3	2	2	1	7	6			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr16:67899106G>C	ENST00000219169.4	+	2	356	c.73G>C	c.(73-75)Gat>Cat	p.D25H	NUTF2_ENST00000568396.2_Missense_Mutation_p.D25H|NUTF2_ENST00000569436.2_Missense_Mutation_p.D25H	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	25	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		ATTTGATAATGATAGAACCCA	0.483													5	36					0	0	0	0	C	67899106	G	C	67899106	3	2	235	1	0	0	0	0	1	0	0	0	10850	1290	45	2	75	2	NUTF2	16	67899106	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	17231780	67899106	22455647	127	43000											
AP1G1	164	broad.mit.edu	37	chr16	71768545	71768545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaactttaatgacttgtgtGatggtccccgtgttaaatgc	10	14	10	7	1	0	3	0	2	0	1	1	3	1	3	2	1	2	1	2	1	4	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr16:71768545G>C	ENST00000299980.4	-	22	2775	c.2334C>G	c.(2332-2334)atC>atG	p.I778M	AP1G1_ENST00000564155.1_Missense_Mutation_p.I203M|AP1G1_ENST00000433195.2_Missense_Mutation_p.I801M|AP1G1_ENST00000423132.2_Missense_Mutation_p.I781M|AP1G1_ENST00000393512.3_Missense_Mutation_p.I781M|AP1G1_ENST00000569748.1_Missense_Mutation_p.I778M	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	778	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGACTTGTGTGATGGTCCCCG	0.453													13	193					0	0	0	0	C	71768545	G	C	71768545	3	2	235	1	0	0	0	0	1	0	0	0	733	1280	45	2	142	2	AP1G1	16	71768545	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	3869439	71768545	18586208	128	43001											
SMG6	23293	broad.mit.edu	37	chr17	1972199	1972199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttcgagctccatctgcctCatctgactgtggtcctccag	6	13	8	14	1	3	1	1	1	2	0	7	2	6	1	4	1	2	1	4	1	0	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:1972199C>T	ENST00000544865.1	-	16	4125	c.3615G>A	c.(3613-3615)atG>atA	p.M1205I	SMG6_ENST00000536871.2_Missense_Mutation_p.M328I|SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000354901.4_Missense_Mutation_p.M328I|SMG6_ENST00000263073.5_Missense_Mutation_p.M1236I			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1236					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCATCTGCCTCATCTGACTGT	0.592													5	21					0	0	0	0	T	1972199	C	T	1972199	3	4	235	1	0	0	0	0	1	0	0	0	14885	826	29	2	567	2	SMG6	17	1972199	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08		1972199	79223011	129	43002											
BCL6B	255877	broad.mit.edu	37	chr17	6930330	6930330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagccctacccttgccctaCctgcggaacccgcttccgcc	6	7	8	20	3	0	0	0	0	0	0	1	2	1	1	7	1	6	1	7	1	4	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:6930330C>A	ENST00000293805.5	+	8	1339	c.1247C>A	c.(1246-1248)aCc>aAc	p.T416N		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	416						nucleus	zinc ion binding			skin(1)	1						CCTTGCCCTACCTGCGGAACC	0.647													3	62					0.000602214	0.000626795	1	0	A	6930330	C	A	6930330	3	1	235	1	0	0	0	0	1	0	0	0	1381	507	18	4	1273	4	BCL6B	17	6930330	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	4958131	6930330	74264880	130	43003											
TP53	7157	broad.mit.edu	37	chr17	7578506	7578514	+	In_Frame_Del	DEL	GGCAGGTCT	GGCAGGTCT	-																															atcaacccacagctgcacagGgcaggtcttggccagttggc																										TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:7578506_7578514delGGCAGGTCT	ENST00000420246.2	-	5	548_556	c.416_424delAGACCTGCC	c.(415-426)act>a	p.KTCP139del	TP53_ENST00000413465.2_In_Frame_Del_p.KTCP139del|TP53_ENST00000445888.2_In_Frame_Del_p.KTCP139del|TP53_ENST00000359597.4_In_Frame_Del_p.KTCP139del|TP53_ENST00000269305.4_In_Frame_Del_p.KTCP139del|TP53_ENST00000455263.2_In_Frame_Del_p.KTCP139del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	139	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(79)|p.C141R(13)|p.C141W(13)|p.T140I(12)|p.C141*(11)|p.K139N(9)|p.0?(8)|p.K139K(7)|p.T140T(6)|p.C9Y(5)|p.C48Y(5)|p.C141S(5)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.C141F(4)|p.K139fs*9(3)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.C141fs*29(3)|p.K139R(2)|p.K139fs*31(2)|p.P142F(2)|p.P142A(2)|p.P142T(2)|p.P142S(2)|p.N131fs*27(2)|p.P142fs*28(2)|p.C141fs*8(2)|p.K139T(1)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.T140fs*9(1)|p.K46_T47delKT(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9S(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*10(1)|p.T140N(1)|p.C48S(1)|p.C48R(1)|p.C48W(1)|p.C42fs*9(1)|p.C9R(1)|p.C135_T140delCQLAKT(1)|p.Q136_K139delQLAK(1)|p.C141A(1)|p.C141G(1)|p.C141_P142insXX(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.C3fs*9(1)|p.T140fs*28(1)|p.T140fs*30(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGCTGCACAGGGCAGGTCTTGGCCAGTTG	0.569		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	44	---	---	---	---					-	7578514	GGCAGGTCT	-	7578506	7	5	235	1	0	1	0	1	0	0	0	0	16476	1232	43	0	874	0	TP53	17	7578506	In_Frame_Del	DEL	GGCAGGTCT	TCGA-CV-5444-01A-02D-1512-08	648176	7578506	73616704	131	43004											
TP53	7157	broad.mit.edu	37	chr17	7579912	7579912	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgactgcggctcctccaTggcagtgacccggaaggcag	8	7	13	13	2	1	2	0	2	1	0	3	3	3	3	3	4	1	3	3	4	1	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:7579912T>C	ENST00000420246.2	-	2	133	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TP53_ENST00000445888.2_Start_Codon_SNP_p.M1V|TP53_ENST00000455263.2_Start_Codon_SNP_p.M1V|TP53_ENST00000359597.4_Start_Codon_SNP_p.M1V|TP53_ENST00000269305.4_Start_Codon_SNP_p.M1V|TP53_ENST00000413465.2_Start_Codon_SNP_p.M1V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	1	Interaction with HRMT1L2.|Transcription activation (acidic).				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCTCCTCCATGGCAGTGACC	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	18					0	0	0	0	C	7579912	T	C	7579912	1	2	235	1	0	0	0	0	0	0	0	0	16476	1464	51	5		5	TP53	17	7579912	Translation_Start_Site	SNP	T	TCGA-CV-5444-01A-02D-1512-08	1406	7579912	73615298	132	43005											
DNAH2	146754	broad.mit.edu	37	chr17	7734557	7734557	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagatcactgaggcacaaacCctctttgatactttgctttc	10	13	6	12	0	2	3	1	2	1	1	3	3	2	3	1	1	3	2	1	1	2	4			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:7734557C>A	ENST00000572933.1	+	80	13844	c.12384C>A	c.(12382-12384)acC>acA	p.T4128T	DNAH2_ENST00000389173.2_Silent_p.T4128T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4128					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCACAAACCCTCTTTGATA	0.557													54	118					4.37618e-36	4.98738e-36	1	0	A	7734557	C	A	7734557	2	1	235	1	0	0	0	0	0	0	0	1	4639	610	22	4		4	DNAH2	17	7734557	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	154645	7734557	73460653	133	43006											
MYH13	8735	broad.mit.edu	37	chr17	10248844	10248844	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtactgcctgggctgcttGgtgtccagctgctggttgat	5	13	14	9	0	0	1	0	1	0	0	1	1	1	1	2	3	5	6	2	3	2	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:10248844G>T	ENST00000418404.3	-	13	1516	c.1353C>A	c.(1351-1353)acC>acA	p.T451T	MYH13_ENST00000570743.1_Silent_p.T451T|MYH13_ENST00000252172.4_Silent_p.T451T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	451	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGGCTGCTTGGTGTCCAGCT	0.512													24	88					1.74807e-11	1.94867e-11	1	0	T	10248844	G	T	10248844	2	4	235	1	0	0	0	0	0	0	0	1	10102	1335	47	4		4	MYH13	17	10248844	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	2514287	10248844	70946366	134	43007											
NCOR1	9611	broad.mit.edu	37	chr17	15971267	15971267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcgtgggcaggtggctcCgataaacctcgcctgcagtg	7	8	15	11	3	0	0	0	0	0	0	2	1	1	0	3	3	3	3	3	3	2	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:15971267C>T	ENST00000268712.3	-	32	4939	c.4682G>A	c.(4681-4683)cGg>cAg	p.R1561Q	NCOR1_ENST00000395857.3_Missense_Mutation_p.R145Q|NCOR1_ENST00000395851.1_Missense_Mutation_p.R1577Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1561	Interaction with C1D (By similarity).|Interaction with ETO.			R -> W (in Ref. 1; AAC33550).	cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGTGGCTCCGATAAACCTC	0.512													18	23					0	0	0	0	T	15971267	C	T	15971267	3	4	235	1	0	0	0	0	1	0	0	0	10305	652	23	1	2700	1	NCOR1	17	15971267	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	5722423	15971267	65223943	135	43008											
AOC3	8639	broad.mit.edu	37	chr17	41003847	41003847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtggagcgtcatggaggcCccctgccctatcaccgacgc	6	7	12	16	3	2	0	2	0	0	0	2	3	2	2	4	3	2	0	4	3	1	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:41003847C>T	ENST00000308423.2	+	1	647	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	163					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TCATGGAGGCCCCCTGCCCTA	0.617													11	37					0	0	0	0	T	41003847	C	T	41003847	3	4	235	1	0	0	0	0	1	0	0	0	729	623	22	4	489	4	AOC3	17	41003847	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	25032580	41003847	40191363	136	43009											
HDAC5	10014	broad.mit.edu	37	chr17	42155928	42155928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggcccccaccgacagcaagGccatggcgctcacagtctcg	8	4	11	18	4	2	0	1	0	1	0	3	1	2	0	4	3	1	2	4	3	1	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:42155928G>A	ENST00000225983.6	-	26	3595	c.3272C>T	c.(3271-3273)gCc>gTc	p.A1091V	HDAC5_ENST00000393622.2_Missense_Mutation_p.A1090V|HDAC5_ENST00000336057.5_Missense_Mutation_p.A1005V|HDAC5_ENST00000586802.1_Missense_Mutation_p.A1090V			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	1090					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CGACAGCAAGGCCATGGCGCT	0.692													16	143					0	0	0	0	A	42155928	G	A	42155928	3	1	235	1	0	0	0	0	1	0	0	0	7060	1203	42	4	107	4	HDAC5	17	42155928	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	1152081	42155928	39039282	137	43010											
KIF18B	146909	broad.mit.edu	37	chr17	43009571	43009571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctctggggtgcagggCtggctgggagggtggggtgg	3	7	26	5	0	1	0	0	0	1	0	1	2	1	2	0	10	2	4	0	10	0	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:43009571C>A	ENST00000587309.1	-	10	1301	c.1278G>T	c.(1276-1278)caG>caT	p.Q426H	KIF18B_ENST00000339151.4_Missense_Mutation_p.Q426H|KIF18B_ENST00000593135.1_Missense_Mutation_p.Q414H|KIF18B_ENST00000590129.1_Missense_Mutation_p.Q435H|KIF18B_ENST00000438933.2_Missense_Mutation_p.Q426H	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGGTGCAGGGCTGGCTGGGAG	0.657													3	17					0.00024832	0.000262473	1	0	A	43009571	C	A	43009571	3	1	235	1	0	0	0	0	1	0	0	0	8332	796	28	4	1316	4	KIF18B	17	43009571	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	853643	43009571	38185639	138	43011											
LRRC37A	9884	broad.mit.edu	37	chr17	44408471	44408471	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacagatcgaaagacttaacCcacgctatttccattttaga	14	11	6	10	2	0	3	0	0	0	3	2	5	1	3	2	0	1	1	2	0	4	5			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:44408471C>A	ENST00000320254.5	+	9	3831	c.3828C>A	c.(3826-3828)acC>acA	p.T1276T	LRRC37A_ENST00000393465.3_Silent_p.T1276T|LRRC37A_ENST00000496930.1_Silent_p.T314T|ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000575960.1_Intron|ARL17B_ENST00000575698.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1276						integral to membrane				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AAGACTTAACCCACGCTATTT	0.458													23	69					0.000295444	0.000310673	1	0	A	44408471	C	A	44408471	2	1	235	1	0	0	0	0	0	0	0	1	9055	610	22	4		4	LRRC37A	17	44408471	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08	1398900	44408471	36786739	139	43012											
COIL	8161	broad.mit.edu	37	chr17	55038285	55038285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgacgactcggcatctgttCaagtcgaccagaagccagaa	12	7	11	11	3	2	3	1	1	1	2	4	5	2	3	2	1	1	2	2	1	3	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:55038285C>G	ENST00000240316.4	-	1	130	c.96G>C	c.(94-96)ttG>ttC	p.L32F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	32						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GGCATCTGTTCAAGTCGACCA	0.587											OREG0024594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	33					0	0	0	0	G	55038285	C	G	55038285	3	3	235	1	0	0	0	0	1	0	0	0	3695	825	29	2	1662	2	COIL	17	55038285	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	10629814	55038285	26156925	140	43013											
C17orf70	80233	broad.mit.edu	37	chr17	79517287	79517287	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcataccttcatgcgtcctGggagacgcggacagcgagac	9	7	12	13	4	2	2	2	0	0	2	3	5	3	3	2	2	3	0	2	2	1	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:79517287G>T	ENST00000537152.1	-	3	1305	c.780C>A	c.(778-780)ccC>ccA	p.P260P	C17orf70_ENST00000327787.8_Silent_p.P411P	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	411					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CATGCGTCCTGGGAGACGCGG	0.607													27	101					1.7367e-05	1.8549e-05	1	0	T	79517287	G	T	79517287	2	4	235	1	0	0	0	0	0	0	0	1	1892	1335	47	4		4	C17orf70	17	79517287	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08	24479002	79517287	1677923	141	43014											
TSPAN10	83882	broad.mit.edu	37	chr17	79612251	79612251	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttccccttctccctgctGgggctgctggccctggccat	3	11	10	17	0	1	0	0	0	1	0	3	0	2	0	5	4	3	3	5	4	1	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:79612251G>A	ENST00000328585.4	+	0	360				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCTCCCTGCTGGGGCTGCTGG	0.662													19	73					0	0	0	0	A	79612251	G	A	79612251	1	1	235	0	1	0	0	0	0	0	0	0	16729	1335	47	4		4	TSPAN10	17	79612251	RNA	SNP	G	TCGA-CV-5444-01A-02D-1512-08	94964	79612251	1582959	142	43015											
ZNF750	79755	broad.mit.edu	37	chr17	80788944	80788944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcctgggcaggtaggcattCtgtgcttttcttaacaggcc	7	12	12	10	0	2	0	0	0	2	0	2	0	2	0	2	4	3	4	2	4	2	5			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:80788944C>G	ENST00000269394.3	-	2	2220	c.1387G>C	c.(1387-1389)Gaa>Caa	p.E463Q	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.E64Q|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	463						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGTAGGCATTCTGTGCTTTTC	0.522													29	216					0	0	0	0	G	80788944	C	G	80788944	3	3	235	1	0	0	0	0	1	0	0	0	18226	922	32	2	792	2	ZNF750	17	80788944	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	1176693	80788944	406266	143	43016											
KDM4B	23030	broad.mit.edu	37	chr19	5047507	5047507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgtggcccagtggaacatCgggagcctccggaccatcct	8	6	13	14	3	0	0	0	0	0	0	3	4	2	3	5	4	2	0	5	4	1	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:5047507C>T	ENST00000159111.4	+	6	671	c.453C>T	c.(451-453)atC>atT	p.I151I	KDM4B_ENST00000536461.1_Silent_p.I151I|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Silent_p.I151I	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	151	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGTGGAACATCGGGAGCCTCC	0.662													5	59					0	0	0	0	T	5047507	C	T	5047507	2	4	235	1	0	0	0	0	0	0	0	1	8182	874	31	1		1	KDM4B	19	5047507	Silent	SNP	C	TCGA-CV-5444-01A-02D-1512-08		5047507	54081476	144	43017											
ZNF358	140467	broad.mit.edu	37	chr19	7584186	7584186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggcctgagacccgtttatGaagagctcgactctgactcc	10	9	10	12	2	1	4	0	3	1	2	3	6	2	4	3	1	1	2	3	1	3	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:7584186G>A	ENST00000597229.1	+	2	228	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	CTD-2207O23.12_ENST00000599312.1_3'UTR|ZNF358_ENST00000394341.2_Missense_Mutation_p.E20K	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	20					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						ACCCGTTTATGAAGAGCTCGA	0.577													10	109					0	0	0	0	A	7584186	G	A	7584186	3	1	235	1	0	0	0	0	1	0	0	0	17962	1291	45	2	60	2	ZNF358	19	7584186	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	2536679	7584186	51544797	145	43018											
ZNF615	284370	broad.mit.edu	37	chr19	52506950	52506950	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaacaaaccaaaagtcacCtgggcctgcatcattgtctc	14	9	6	12	0	3	0	2	0	1	0	4	0	3	0	3	1	3	1	3	1	5	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:52506950C>T	ENST00000602063.1	-	3	364	c.15_splice	c.e3+1	p.Q5_splice	ZNF615_ENST00000594083.1_Splice_Site_p.Q5_splice|ZNF615_ENST00000597747.1_Splice_Site_p.Q5_splice|ZNF615_ENST00000598071.1_Splice_Site_p.Q5_splice|ZNF615_ENST00000391795.3_Intron|ZNF615_ENST00000376716.5_Splice_Site_p.Q5_splice			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CAAAAGTCACCTGGGCCTGCA	0.333													6	49					0	0	0	0	T	52506950	C	T	52506950	5	4	235	1	0	0	0	0	0	0	1	0	18135	695	24	4	2196	4	ZNF615	19	52506950	Splice_Site	SNP	C	TCGA-CV-5444-01A-02D-1512-08	44922764	52506950	6622033	146	43019											
CNOT3	4849	broad.mit.edu	37	chr19	54656252	54656252	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacataccgctgtcgctggGtgtctgtccactgggccctg	5	10	13	13	2	1	0	0	0	1	0	3	1	2	0	3	2	2	2	3	2	2	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:54656252G>T	ENST00000406403.1	+	14	3396	c.1793G>T	c.(1792-1794)gGt>gTt	p.G598V	CNOT3_ENST00000358389.3_Missense_Mutation_p.G417V|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.G598V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	598	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGTCGCTGGGTGTCTGTCCA	0.632													8	83					3.09899e-07	3.39889e-07	1	0	T	54656252	G	T	54656252	3	4	235	1	0	0	0	0	1	0	0	0	3650	1261	44	4	1847	4	CNOT3	19	54656252	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	2149302	54656252	4472731	147	43020											
ZNF418	147686	broad.mit.edu	37	chr19	58438294	58438294	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctttctccagtgtgacCtcgctgatggttcctaaggt	6	14	11	10	1	2	2	0	2	2	0	5	2	3	2	3	3	0	2	3	3	1	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:58438294C>A	ENST00000396147.1	-	4	1546	c.1255G>T	c.(1255-1257)Ggt>Tgt	p.G419C	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.G334C|ZNF418_ENST00000425570.3_Missense_Mutation_p.G440C|ZNF418_ENST00000595830.1_Missense_Mutation_p.G419C	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CCAGTGTGACCTCGCTGATGG	0.463													31	151					6.00712e-18	6.77046e-18	1	0	A	58438294	C	A	58438294	3	1	235	1	0	0	0	0	1	0	0	0	17990	681	24	4	779	4	ZNF418	19	58438294	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	3782042	58438294	690689	148	43021											
C19orf18	147685	broad.mit.edu	37	chr19	58472888	58472888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcttataaagtgactcgaGctgttgtctttcctcagcct	7	16	8	10	1	3	1	1	1	2	0	5	2	4	1	2	0	2	3	2	0	3	5			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:58472888G>A	ENST00000314391.3	-	5	504	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	135						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		AGTGACTCGAGCTGTTGTCTT	0.443													14	86					0	0	0	0	A	58472888	G	A	58472888	3	1	235	1	0	0	0	0	1	0	0	0	1928	971	34	4	252	4	C19orf18	19	58472888	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08	34594	58472888	656095	149	43022											
CSTF1	1477	broad.mit.edu	37	chr20	54972832	54972832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctggcttctggttcaaggGattatactcttaaattattt	9	18	7	7	0	3	0	1	0	2	0	4	1	4	1	1	3	1	2	1	3	6	7			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr20:54972832G>A	ENST00000217109.4	+	4	932	c.580G>A	c.(580-582)Gat>Aat	p.D194N	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	194					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TGGTTCAAGGGATTATACTCT	0.393													7	54					0	0	0	0	A	54972832	G	A	54972832	3	1	235	1	0	0	0	0	1	0	0	0	4015	1174	41	2	590	2	CSTF1	20	54972832	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08		54972832	8052688	150	43023											
LAMA5	3911	broad.mit.edu	37	chr20	60888187	60888187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgctgtaggacacgagcCgcagctcctgctcgaagcgc	7	5	12	17	5	0	0	0	0	0	0	2	3	1	1	4	1	4	5	4	1	2	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr20:60888187C>T	ENST00000252999.3	-	65	8978	c.8912G>A	c.(8911-8913)cGg>cAg	p.R2971Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2971	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACACGAGCCGCAGCTCCTG	0.652													14	7					0	0	0	0	T	60888187	C	T	60888187	3	4	235	1	0	0	0	0	1	0	0	0	8662	652	23	1	2239	1	LAMA5	20	60888187	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	5915355	60888187	2137333	151	43024											
CABLES2	81928	broad.mit.edu	37	chr20	60966046	60966046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagaactgctgggtgaggCgcctgtaatgaggtaacact	10	9	14	8	1	0	3	0	2	0	1	0	3	0	3	1	3	3	4	1	3	4	3			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr20:60966046C>T	ENST00000279101.5	-	10	1426	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	473					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTGGGTGAGGCGCCTGTAATG	0.612													24	71					0	0	0	0	T	60966046	C	T	60966046	3	4	235	1	0	0	0	0	1	0	0	0	2555	768	27	1	22	1	CABLES2	20	60966046	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	77859	60966046	2059474	152	43025											
CRKL	1399	broad.mit.edu	37	chr22	21304053	21304053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaatggccagtgggaaggcGaagtgaacgggcgcaaaggg	13	4	18	6	3	0	1	0	1	0	0	0	3	0	2	1	5	1	1	1	5	6	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr22:21304053G>A	ENST00000354336.3	+	3	1341	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	278	SH3 2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|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;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GTGGGAAGGCGAAGTGAACGG	0.453													18	218					0	0	0	0	A	21304053	G	A	21304053	3	1	235	1	0	0	0	0	1	0	0	0	3915	1059	37	1	842	1	CRKL	22	21304053	Missense_Mutation	SNP	G	TCGA-CV-5444-01A-02D-1512-08		21304053	30000513	153	43026											
TOP3B	8940	broad.mit.edu	37	chr22	22313587	22313587	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caggggcgagaaagacacctCcatcaactcatccatgcctg	12	6	9	14	1	2	2	2	0	0	2	4	3	4	2	4	2	2	0	4	2	2	0			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr22:22313587C>G	ENST00000398793.2	-	16	2256	c.1822G>C	c.(1822-1824)Gag>Cag	p.E608Q	TOP3B_ENST00000357179.5_Missense_Mutation_p.E608Q	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	608					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AAAGACACCTCCATCAACTCA	0.602													6	83					0	0	0	0	G	22313587	C	G	22313587	3	3	235	1	0	0	0	0	1	0	0	0	16463	864	30	2	778	2	TOP3B	22	22313587	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	1009534	22313587	28990979	154	43027											
MYO18B	84700	broad.mit.edu	37	chr22	26228956	26228956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggctgttgtggatcaaaatCcctctcaggtaacacagggc	10	10	11	10	0	2	0	2	0	1	0	4	1	3	1	1	4	1	3	1	4	3	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr22:26228956C>A	ENST00000335473.7	+	16	3302	c.3052C>A	c.(3052-3054)Ccc>Acc	p.P1018T	MYO18B_ENST00000407587.2_Missense_Mutation_p.P1018T|MYO18B_ENST00000536101.1_Missense_Mutation_p.P1018T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGATCAAAATCCCTCTCAGGT	0.502													10	51					1.58986e-06	1.7344e-06	1	0	A	26228956	C	A	26228956	3	1	235	1	0	0	0	0	1	0	0	0	10136	855	30	2	3110	2	MYO18B	22	26228956	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	3915369	26228956	25075610	155	43028											
SEPT3	55964	broad.mit.edu	37	chr22	42377740	42377740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccatgaagcccatgagcatCaactccaacctgctgggcta	11	7	8	15	0	1	2	1	2	0	0	2	2	2	2	4	1	5	3	4	1	4	1			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr22:42377740C>G	ENST00000396425.3	+	2	233	c.102C>G	c.(100-102)atC>atG	p.I34M	SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000291236.11_Intron|SEPT3_ENST00000328414.8_Missense_Mutation_p.I34M|SEPT3_ENST00000396426.3_Missense_Mutation_p.I34M|CTA-250D10.19_ENST00000424613.1_RNA	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	34					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CCATGAGCATCAACTCCAACC	0.587													4	41					0	0	0	0	G	42377740	C	G	42377740	3	3	235	1	0	0	0	0	1	0	0	0	14152	816	29	2	108	2	SEPT3	22	42377740	Missense_Mutation	SNP	C	TCGA-CV-5444-01A-02D-1512-08	16148784	42377740	8926826	156	43029											
PHEX	5251	broad.mit.edu	37	chrX	22095598	22095598	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgctccctttcagaagcGattgaaaaagcagatgccaa	14	9	8	10	1	2	3	1	1	1	2	3	4	3	3	2	0	4	2	2	0	4	2			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chrX:22095598G>A	ENST00000379374.4	+	5	1006	c.441G>A	c.(439-441)gcG>gcA	p.A147A	PHEX_ENST00000537599.1_Silent_p.A147A|PHEX_ENST00000535894.1_Silent_p.A50A	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	147					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	p.A147A(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTTCAGAAGCGATTGAAAAAG	0.438													25	59					0	0	0	0	A	22095598	G	A	22095598	2	1	235	1	0	0	0	0	0	0	0	1	11891	1045	37	1		1	PHEX	23	22095598	Silent	SNP	G	TCGA-CV-5444-01A-02D-1512-08		22095598	133174962	157	43030											
MTOR	2475	broad.mit.edu	37	chr1	11297982	11297982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtgcagatggccagcTcccggatctcaaacacctgg	10	6	10	15	1	1	1	1	0	1	1	3	2	2	2	4	3	3	2	4	3	1	0			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:11297982T>C	ENST00000361445.4	-	13	2202	c.2126A>G	c.(2125-2127)gAg>gGg	p.E709G		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	709					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GATGGCCAGCTCCCGGATCTC	0.582													12	33					0	0	0	0	C	11297982	T	C	11297982	3	2	236	1	0	0	0	0	1	0	0	0	10024	1551	54	5	5707	5	MTOR	1	11297982	Missense_Mutation	SNP	T	TCGA-CV-5966-01A-11D-1683-08		11297982	237952639	1	43031											
PRAMEF16	654348	broad.mit.edu	37	chr1	13497673	13497673	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caagcctcagtcagctaaagGagctgcatctgattcatatc	12	10	8	11	0	4	1	3	1	1	0	5	2	4	2	1	1	4	3	1	1	4	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:13497673G>C	ENST00000376121.3	+	3	1000	c.970G>C	c.(970-972)Gag>Cag	p.E324Q		NM_001045480.1	NP_001038945.1	Q5VWM1	PRA16_HUMAN	PRAME family member 16	324												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGCTAAAGGAGCTGCATCT	0.473													10	93					0	0	0	0	C	13497673	G	C	13497673	3	2	236	1	0	0	0	0	1	0	0	0	12508	1175	41	2	980	2	PRAMEF16	1	13497673	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	2199691	13497673	235752948	2	43032											
PQLC2	54896	broad.mit.edu	37	chr1	19653876	19653876	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgccctggcttgtgggCagcctgggcgtgctgctgct	2	10	15	14	1	0	0	0	0	0	0	0	0	0	0	3	3	5	5	3	3	0	1			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:19653876C>T	ENST00000375153.3	+	7	1414	c.774C>T	c.(772-774)ggC>ggT	p.G258G	PQLC2_ENST00000400548.2_Silent_p.G193G|PQLC2_ENST00000375155.3_Silent_p.G258G	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2	258						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTGTGGGCAGCCTGGGCG	0.652													8	32					0	0	0	0	T	19653876	C	T	19653876	2	4	236	1	0	0	0	0	0	0	0	1	12495	697	25	4		4	PQLC2	1	19653876	Silent	SNP	C	TCGA-CV-5966-01A-11D-1683-08	6156203	19653876	229596745	3	43033											
RABGGTB	5876	broad.mit.edu	37	chr1	76255009	76255009	+	Frame_Shift_Del	DEL	C	C	-																															gtgctagtatcggacatgatCctcatcttttatacactctt																										TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:76255009delC	ENST00000319942.3	+	3	348	c.277delC	c.(277-279)ctfs	p.P93fs	RABGGTB_ENST00000370826.3_Frame_Shift_Del_p.P93fs|RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	93					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CGGACATGATCCTCATCTTTT	0.368													21	78	---	---	---	---					-	76255009	C	-	76255009	7	5	236	1	0	1	0	1	0	0	0	0	13050	855	30	0	287	0	RABGGTB	1	76255009	Frame_Shift_Del	DEL	C	TCGA-CV-5966-01A-11D-1683-08	56601133	76255009	172995612	4	43034											
DCST2	127579	broad.mit.edu	37	chr1	155006045	155006045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtggccttccaccagtaGctccagaagcccgtaggccg	7	7	12	15	2	0	1	0	0	0	1	2	1	2	1	6	2	2	4	6	2	3	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:155006045G>T	ENST00000368424.3	-	1	191	c.133C>A	c.(133-135)Cta>Ata	p.L45I	DCST2_ENST00000295536.5_Missense_Mutation_p.L45I	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	45						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCACCAGTAGCTCCAGAAGC	0.632													14	69					1.5739e-10	1.715e-10	1	0	T	155006045	G	T	155006045	3	4	236	1	0	0	0	0	1	0	0	0	4335	962	34	4	2248	4	DCST2	1	155006045	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	78751036	155006045	94244576	5	43035											
DCST1	149095	broad.mit.edu	37	chr1	155018958	155018958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttcctgcagtactccttCcgcagtaagcccatccccca	7	10	5	19	1	0	0	0	0	0	0	5	0	5	0	7	0	3	4	7	0	2	4			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:155018958C>A	ENST00000295542.1	+	13	1587	c.1491C>A	c.(1489-1491)ttC>ttA	p.F497L	DCST1_ENST00000392480.1_Missense_Mutation_p.F497L|DCST1_ENST00000423025.2_Missense_Mutation_p.F472L|DCST1_ENST00000368419.2_Missense_Mutation_p.F497L	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	497						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGTACTCCTTCCGCAGTAAGC	0.582													10	36					0.010729	0.0109367	1	0	A	155018958	C	A	155018958	3	1	236	1	0	0	0	0	1	0	0	0	4334	854	30	2	1537	2	DCST1	1	155018958	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	12913	155018958	94231663	6	43036											
GON4L	54856	broad.mit.edu	37	chr1	155736338	155736338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcagtttcaggactacacCcttaggcaatagcagtgggt	10	11	10	10	0	2	0	2	0	0	0	2	1	2	1	1	3	2	3	1	3	4	5			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:155736338C>T	ENST00000437809.1	-	21	3048	c.2926G>A	c.(2926-2928)Ggt>Agt	p.G976S	GON4L_ENST00000368331.1_Missense_Mutation_p.G976S|GON4L_ENST00000271883.5_Missense_Mutation_p.G976S|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.G976S			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	976					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGGACTACACCCTTAGGCAAT	0.498													19	66					0	0	0	0	T	155736338	C	T	155736338	3	4	236	1	0	0	0	0	1	0	0	0	6620	623	22	4	3961	4	GON4L	1	155736338	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	717380	155736338	93514283	7	43037											
ARHGEF11	9826	broad.mit.edu	37	chr1	156926233	156926233	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggtcttagggaagaaCggtagccacttgtccttgtc	7	14	11	9	1	2	1	0	0	2	1	4	2	3	2	2	3	2	1	2	3	4	6			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:156926233C>T	ENST00000368194.3	-	19	2689	c.1650G>A	c.(1648-1650)ccG>ccA	p.P550P	ARHGEF11_ENST00000361409.2_Silent_p.P510P	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	510					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAGGGAAGAACGGTAGCCACT	0.552													21	86					0	0	0	0	T	156926233	C	T	156926233	2	4	236	1	0	0	0	0	0	0	0	1	898	523	19	1		1	ARHGEF11	1	156926233	Silent	SNP	C	TCGA-CV-5966-01A-11D-1683-08	1189895	156926233	92324388	8	43038											
CD1E	913	broad.mit.edu	37	chr1	158326543	158326543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagaacattctttctcccCacacacccagccctgtcttt	10	12	3	16	0	3	1	0	0	3	1	4	1	3	1	4	0	2	0	4	0	2	4			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:158326543C>T	ENST00000444681.2	+	5	1020	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368154.1_Missense_Mutation_p.H98Y|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.H153Y|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.H252Y|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.H342Y|CD1E_ENST00000368161.3_3'UTR	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	342	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCTTTCTCCCCACACACCCAG	0.413													9	50					0	0	0	0	T	158326543	C	T	158326543	3	4	236	1	0	0	0	0	1	0	0	0	3007	594	21	4	1046	4	CD1E	1	158326543	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	1400310	158326543	90924078	9	43039											
IL24	11009	broad.mit.edu	37	chr1	207072852	207072852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagccttctgggctgtgaaaGacactatggtgagtaaagtg	12	10	13	6	0	1	3	0	2	1	1	1	3	1	3	1	2	1	2	1	2	5	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:207072852G>A	ENST00000367093.3	+	3	509	c.235G>A	c.(235-237)Gac>Aac	p.D79N	IL24_ENST00000294984.2_Missense_Mutation_p.D78N|IL24_ENST00000391929.3_Missense_Mutation_p.D79N|IL24_ENST00000491169.1_Intron	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN	interleukin 24	78					apoptosis	extracellular space	cytokine activity			endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					GGCTGTGAAAGACACTATGGT	0.572													15	56					0	0	0	0	A	207072852	G	A	207072852	3	1	236	1	0	0	0	0	1	0	0	0	7730	942	33	2	241	2	IL24	1	207072852	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	48746309	207072852	42177769	10	43040											
KCNF1	3754	broad.mit.edu	37	chr2	11053801	11053801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtactacaacaagcagCgcgtcctggagaccgcggcc	10	5	12	14	4	1	1	1	0	0	1	2	2	2	1	3	3	5	2	3	3	4	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:11053801C>T	ENST00000295082.1	+	1	1739	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	417						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CAACAAGCAGCGCGTCCTGGA	0.617													6	20					0	0	0	0	T	11053801	C	T	11053801	3	4	236	1	0	0	0	0	1	0	0	0	8079	768	27	1	1251	1	KCNF1	2	11053801	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08		11053801	232145572	11	43041											
FAM161A	84140	broad.mit.edu	37	chr2	62067206	62067206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcttctttgcttttctcCttcagagaccttctccgttc	5	17	6	13	1	4	2	1	0	3	2	7	3	4	2	3	0	2	3	3	0	0	7			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:62067206C>A	ENST00000404929.1	-	3	944	c.933G>T	c.(931-933)aaG>aaT	p.K311N	FAM161A_ENST00000405894.3_Missense_Mutation_p.K311N	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	311					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGCTTTTCTCCTTCAGAGACC	0.443													17	132					4.96729e-08	5.30292e-08	1	0	A	62067206	C	A	62067206	3	1	236	1	0	0	0	0	1	0	0	0	5513	680	24	4	1065	4	FAM161A	2	62067206	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	51013405	62067206	181132167	12	43042											
BMP10	27302	broad.mit.edu	37	chr2	69093551	69093551	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaaatggtaattttccGgtctactccatcgtatatca	12	15	5	9	2	3	0	2	0	1	0	6	0	5	0	2	2	1	2	2	2	6	7			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:69093551G>T	ENST00000295379.1	-	2	645	c.487C>A	c.(487-489)Cgg>Agg	p.R163R		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	163					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|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	cell surface|extracellular space|Z disc	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						GTAATTTTCCGGTCTACTCCA	0.448													3	33					0.115264	0.116742	1	0	T	69093551	G	T	69093551	2	4	236	1	0	0	0	0	0	0	0	1	1462	1115	39	3		3	BMP10	2	69093551	Silent	SNP	G	TCGA-CV-5966-01A-11D-1683-08	7026345	69093551	174105822	13	43043											
DLX1	1745	broad.mit.edu	37	chr2	172951395	172951395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccaggggcggactcggaGaagagcacggtggtggaagg	9	4	19	9	3	0	2	0	0	0	2	2	5	1	4	2	8	1	1	2	8	2	0			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:172951395G>A	ENST00000361725.4	+	2	779	c.327G>A	c.(325-327)gaG>gaA	p.E109E	DLX1_ENST00000341900.6_Intron	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	109						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CGGACTCGGAGAAGAGCACGG	0.567													21	90					0	0	0	0	A	172951395	G	A	172951395	2	1	236	1	0	0	0	0	0	0	0	1	4607	933	33	2		2	DLX1	2	172951395	Silent	SNP	G	TCGA-CV-5966-01A-11D-1683-08	103857844	172951395	70247978	14	43044											
CASP8	841	broad.mit.edu	37	chr2	202131498	202131498	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagacaccaggcagggctCaaatttctgcctacaggtgg	10	9	11	11	0	3	1	2	0	1	1	3	1	3	1	2	4	2	2	2	4	2	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:202131498C>T	ENST00000358485.4	+	2	662	c.466C>T	c.(466-468)Caa>Taa	p.Q156*	CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q97*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.Q97*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q97*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q97*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	97	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGCAGGGCTCAAATTTCTGC	0.488										HNSCC(4;0.00038)			5	18					0	0	0	0	T	202131498	C	T	202131498	4	4	236	1	0	0	0	0	0	1	0	0	2702	827	29	2	472	2	CASP8	2	202131498	Nonsense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	29180103	202131498	41067875	15	43045											
OR6B2	389090	broad.mit.edu	37	chr2	240969562	240969562	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagctgcgtcatgcacccGacgaaagagatgcgtttctg	10	9	12	10	4	2	2	1	0	1	2	2	5	2	2	1	0	4	3	1	0	2	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:240969562G>T	ENST00000402971.2	-	1	344	c.285C>A	c.(283-285)gtC>gtA	p.V95V		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TCATGCACCCGACGAAAGAGA	0.577													8	46					1.76689e-08	1.91212e-08	1	0	T	240969562	G	T	240969562	2	4	236	1	0	0	0	0	0	0	0	1	11259	1045	37	3		3	OR6B2	2	240969562	Silent	SNP	G	TCGA-CV-5966-01A-11D-1683-08	38838064	240969562	2229811	16	43046											
FOXP1	27086	broad.mit.edu	37	chr3	71247175	71247175	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgaaattagtctcttaagCcaactgctgggactcctaga	11	12	8	10	0	1	2	0	1	1	1	3	3	2	3	2	1	3	1	2	1	5	4			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:71247175C>T	ENST00000318779.3	-	7	700	c.225G>A	c.(223-225)tgG>tgA	p.W75*	FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000318789.4_Intron|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000493089.1_Intron	NM_001012505.1	NP_001012523.1	Q9H334	FOXP1_HUMAN	forkhead box P1	0	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTCTCTTAAGCCAACTGCTGG	0.517			T	PAX5	ALL								11	31					0	0	0	0	T	71247175	C	T	71247175	4	4	236	1	0	0	0	0	0	1	0	0	6073	740	26	4	2037	4	FOXP1	3	71247175	Nonsense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08		71247175	126775255	17	43047											
CADM2	253559	broad.mit.edu	37	chr3	86114798	86114798	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatggccctgaccatgctctCataggaggaatagtggctgt	10	10	12	9	0	1	1	1	1	1	0	2	3	1	3	2	4	1	2	2	4	4	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:86114798C>T	ENST00000383699.3	+	9	1641	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	CADM2_ENST00000407528.2_Silent_p.L369L|CADM2_ENST00000405615.2_Silent_p.L371L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	369	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACCATGCTCTCATAGGAGGAA	0.403													6	18					0	0	0	0	T	86114798	C	T	86114798	2	4	236	1	0	0	0	0	0	0	0	1	2592	813	29	2		2	CADM2	3	86114798	Silent	SNP	C	TCGA-CV-5966-01A-11D-1683-08	14867623	86114798	111907632	18	43048											
ABHD10	55347	broad.mit.edu	37	chr3	111697969	111697969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgtcggagctggggctggGcagccgtccccttcggtccc	2	9	15	15	3	0	0	0	0	0	0	4	1	2	1	4	5	2	3	4	5	0	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:111697969G>T	ENST00000273359.3	+	1	88	c.61G>T	c.(61-63)Gca>Tca	p.A21S	ABHD10_ENST00000534857.1_5'UTR|ABHD10_ENST00000494817.1_Missense_Mutation_p.A21S	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	21						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						CTGGGGCTGGGCAGCCGTCCC	0.687													6	31					0.00116845	0.00122261	1	0	T	111697969	G	T	111697969	3	4	236	1	0	0	0	0	1	0	0	0	74	1203	42	4	63	4	ABHD10	3	111697969	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	25583171	111697969	86324461	19	43049											
CCDC80	151887	broad.mit.edu	37	chr3	112324383	112324383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactcatcttctgggcagcGcatccccagtgactgctgaa	9	10	9	13	1	3	2	1	2	2	0	4	2	4	2	2	1	3	3	2	1	2	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:112324383G>A	ENST00000206423.3	-	8	3687	c.2734C>T	c.(2734-2736)Cgc>Tgc	p.R912C	CCDC80_ENST00000439685.2_Missense_Mutation_p.R912C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	912										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTGGGCAGCGCATCCCCAGT	0.473													3	38					0	0	0	0	A	112324383	G	A	112324383	3	1	236	1	0	0	0	0	1	0	0	0	2881	1087	38	1	122	1	CCDC80	3	112324383	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	626414	112324383	85698047	20	43050											
GP5	2814	broad.mit.edu	37	chr3	194118839	194118839	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgccgcggcccattccgAagagcaggatgtgcgtgagg	8	5	17	11	5	0	2	0	1	0	1	1	5	1	4	3	4	2	1	3	4	1	1			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:194118839A>T	ENST00000401815.1	-	1	244	c.173T>A	c.(172-174)tTc>tAc	p.F58Y	GP5_ENST00000323007.3_Missense_Mutation_p.F58Y			P40197	GPV_HUMAN	glycoprotein V (platelet)	58					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCCCATTCCGAAGAGCAGGAT	0.677													46	73					0	0	0	0	T	194118839	A	T	194118839	3	4	236	1	0	0	0	0	1	0	0	0	6632	246	9	5	1513	5	GP5	3	194118839	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08	81794456	194118839	3903591	21	43051											
NAT8L	339983	broad.mit.edu	37	chr4	2065645	2065645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgctgggccggaaggtgctgGagttcgccgtggtgcacaac	6	7	17	11	4	0	0	0	0	0	0	1	2	0	2	2	5	3	4	2	5	2	1			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:2065645G>A	ENST00000423729.2	+	3	700	c.700G>A	c.(700-702)Gag>Aag	p.E234K	NAT8L_ENST00000331662.3_Missense_Mutation_p.E66K	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	234	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			GAAGGTGCTGGAGTTCGCCGT	0.652													6	24					0	0	0	0	A	2065645	G	A	2065645	3	1	236	1	0	0	0	0	1	0	0	0	10251	1175	41	2	710	2	NAT8L	4	2065645	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08		2065645	189088631	22	43052											
UGDH	7358	broad.mit.edu	37	chr4	39512453	39512453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcccggcctttccccAttccataggtttttgttgga	4	15	9	13	1	0	0	0	0	0	0	2	1	2	1	5	3	2	3	5	3	1	6			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:39512453A>G	ENST00000316423.6	-	4	635	c.293T>C	c.(292-294)aTg>aCg	p.M98T	UGDH_ENST00000507089.1_Start_Codon_SNP_p.M1T|UGDH_ENST00000506179.1_Missense_Mutation_p.M98T|UGDH_ENST00000501493.2_Intron|UGDH_ENST00000515398.1_5'UTR	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	98					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	GCCTTTCCCCATTCCATAGGT	0.413													20	67					0	0	0	0	G	39512453	A	G	39512453	3	3	236	1	0	0	0	0	1	0	0	0	17036	217	8	5	1227	5	UGDH	4	39512453	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08	37446808	39512453	151641823	23	43053											
NFXL1	152518	broad.mit.edu	37	chr4	47898591	47898591	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caacgctgtgaacatctatgGattccgcattcaagtacttt	11	13	7	10	2	2	1	1	1	1	0	3	2	3	2	1	1	3	3	1	1	5	5			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:47898591G>A	ENST00000507489.1	-	10	1454	c.1278C>T	c.(1276-1278)atC>atT	p.I426I	NFXL1_ENST00000329043.3_Silent_p.I426I|NFXL1_ENST00000381538.3_Silent_p.I426I	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	426						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AACATCTATGGATTCCGCATT	0.373													7	38					0	0	0	0	A	47898591	G	A	47898591	2	1	236	1	0	0	0	0	0	0	0	1	10458	1164	41	2		2	NFXL1	4	47898591	Silent	SNP	G	TCGA-CV-5966-01A-11D-1683-08	8386138	47898591	143255685	24	43054											
UGT2B28	54490	broad.mit.edu	37	chr4	70156431	70156431	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaacctgataacattgcTcacatgaaggccaagggagc	14	7	10	10	0	2	2	2	2	0	0	2	4	2	3	2	2	4	1	2	2	4	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:70156431T>A	ENST00000335568.5	+	5	1214	c.1212T>A	c.(1210-1212)gcT>gcA	p.A404A	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	404					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATAACATTGCTCACATGAAGG	0.453													21	129					0	0	0	0	A	70156431	T	A	70156431	2	1	236	1	0	0	0	0	0	0	0	1	17056	1538	54	5		5	UGT2B28	4	70156431	Silent	SNP	T	TCGA-CV-5966-01A-11D-1683-08	22257840	70156431	120997845	25	43055											
UGT2B28	54490	broad.mit.edu	37	chr4	70156461	70156461	+	Missense_Mutation	SNP	A	A	T																															gccaagggagcagctgttagActggacttccacacaatgtc																										TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:70156461A>T	ENST00000335568.5	+	5	1244	c.1242A>T	c.(1240-1242)agA>agT	p.R414S	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	414					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CAGCTGTTAGACTGGACTTCC	0.443													12	132					0	0	0	0	T	70156461	A	T	70156461	3	4	236	1	0	0	0	0	1	0	0	0	17056	272	10	5	1260	5	UGT2B28	4	70156461	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08	30	70156461	120997815	26	43056	334	2									
UGT2B28	54490	broad.mit.edu	37	chr4	70156462	70156462	+	Silent	SNP	C	C	T																															ccaagggagcagctgttagaCtggacttccacacaatgtcg																										TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:70156462C>T	ENST00000335568.5	+	5	1245	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	415					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AGCTGTTAGACTGGACTTCCA	0.443													12	138					0	0	0	0	T	70156462	C	T	70156462	2	4	236	1	0	0	0	0	0	0	0	1	17056	564	20	4		4	UGT2B28	4	70156462	Silent	SNP	C	TCGA-CV-5966-01A-11D-1683-08	1	70156462	120997814	27	43057	334	2									
SHROOM3	57619	broad.mit.edu	37	chr4	77661382	77661382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctaggccggggaacccagGagggttaccccgggggcagg	8	3	19	11	2	0	0	0	0	0	0	0	2	0	2	4	8	3	3	4	8	3	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:77661382G>A	ENST00000296043.6	+	5	3009	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	686					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGGAACCCAGGAGGGTTACCC	0.607													53	72					0	0	0	0	A	77661382	G	A	77661382	3	1	236	1	0	0	0	0	1	0	0	0	14383	1175	41	2	2074	2	SHROOM3	4	77661382	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	7504920	77661382	113492894	28	43058											
RRH	10692	broad.mit.edu	37	chr4	110758732	110758732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgagtccctcaacagaGactggtcagatcagatagat	13	8	10	10	0	3	5	3	1	0	4	4	6	4	5	1	1	1	1	1	1	2	1			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:110758732G>T	ENST00000317735.4	+	5	725	c.691G>T	c.(691-693)Gac>Tac	p.D231Y		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	231					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CCTCAACAGAGACTGGTCAGA	0.403													7	23					0.000157383	0.000165777	1	0	T	110758732	G	T	110758732	3	4	236	1	0	0	0	0	1	0	0	0	13765	942	33	2	709	2	RRH	4	110758732	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	33097350	110758732	80395544	29	43059											
TKTL2	84076	broad.mit.edu	37	chr4	164394114	164394114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttccatgccaattttctGcatcctcaatatttggaata	10	16	5	10	0	2	0	1	0	1	0	4	1	4	1	3	1	2	2	3	1	5	6			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:164394114G>T	ENST00000280605.3	-	1	933	c.773C>A	c.(772-774)gCa>gAa	p.A258E		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	258						cytoplasm	metal ion binding|transketolase activity	p.A258V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAATTTTCTGCATCCTCAAT	0.408													24	93					5.61819e-17	6.38614e-17	1	0	T	164394114	G	T	164394114	3	4	236	1	0	0	0	0	1	0	0	0	16030	1319	46	4	1111	4	TKTL2	4	164394114	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	53635382	164394114	26760162	30	43060											
FAT1	2195	broad.mit.edu	37	chr4	187524850	187524850	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttacgctgacattgagaagGtattgccctatgtctagctt	9	14	10	8	1	1	2	0	2	1	1	1	3	1	2	1	1	3	4	1	1	5	7			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:187524850G>C	ENST00000441802.2	-	19	11039	c.10830C>G	c.(10828-10830)taC>taG	p.Y3610*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3610	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATTGAGAAGGTATTGCCCTA	0.498										HNSCC(5;0.00058)			6	20					0	0	0	0	C	187524850	G	C	187524850	4	2	236	1	0	0	0	0	0	1	0	0	5734	1256	44	4	2972	4	FAT1	4	187524850	Nonsense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	23130736	187524850	3629426	31	43061											
VCAN	1462	broad.mit.edu	37	chr5	82817939	82817939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atattgtagccaaggaaacaGaaaccgatattgatagagag	18	8	10	5	1	0	3	0	1	0	2	0	6	0	4	2	1	3	1	2	1	7	6			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:82817939G>A	ENST00000265077.3	+	7	4379	c.3814G>A	c.(3814-3816)Gaa>Aaa	p.E1272K	VCAN_ENST00000342785.4_Missense_Mutation_p.E1272K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E1224K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1272	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAAGGAAACAGAAACCGATAT	0.453													10	68					0	0	0	0	A	82817939	G	A	82817939	3	1	236	1	0	0	0	0	1	0	0	0	17234	943	33	2	3836	2	VCAN	5	82817939	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08		82817939	98097321	32	43062											
FAM172A	83989	broad.mit.edu	37	chr5	93294538	93294538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgtccagatcttcatttaTaataagtcttctagcccact	11	15	4	11	0	4	1	1	0	3	1	5	1	5	1	2	0	1	0	2	0	4	7			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:93294538T>C	ENST00000395965.3	-	6	653	c.511A>G	c.(511-513)Ata>Gta	p.I171V	FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Missense_Mutation_p.I125V	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	171						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TCTTCATTTATAATAAGTCTT	0.388													16	81					0	0	0	0	C	93294538	T	C	93294538	3	2	236	1	0	0	0	0	1	0	0	0	5533	1406	49	5	763	5	FAM172A	5	93294538	Missense_Mutation	SNP	T	TCGA-CV-5966-01A-11D-1683-08	10476599	93294538	87620722	33	43063											
NUDT12	83594	broad.mit.edu	37	chr5	102894926	102894926	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaaatctgagaaaagaatAaaaactgtggctggatggct	16	11	10	4	0	1	2	0	1	1	2	1	4	1	3	0	3	1	2	0	3	8	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:102894926A>T	ENST00000230792.2	-	3	546	c.450T>A	c.(448-450)ttT>ttA	p.F150L	NUDT12_ENST00000507423.1_Missense_Mutation_p.F132L	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	150						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		AGAAAAGAATAAAAACTGTGG	0.378													8	42					0	0	0	0	T	102894926	A	T	102894926	3	4	236	1	0	0	0	0	1	0	0	0	10799	359	13	5	958	5	NUDT12	5	102894926	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08	9600388	102894926	78020334	34	43064											
KIF3A	11127	broad.mit.edu	37	chr5	132069993	132069993	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaaaaacagtatcaaaagTaaatgtctttggaggttcat	16	12	7	6	0	3	0	2	0	1	0	4	1	4	1	1	2	1	3	1	2	7	4			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:132069993T>G	ENST00000378746.4	-	2	402	c.184A>C	c.(184-186)Act>Cct	p.T62P	KIF3A_ENST00000403231.1_Missense_Mutation_p.T62P|KIF3A_ENST00000378735.1_Missense_Mutation_p.T62P	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	62	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTATCAAAAGTAAATGTCTTT	0.368													38	126					0	0	0	0	G	132069993	T	G	132069993	3	3	236	1	0	0	0	0	1	0	0	0	8351	1638	57	5	1979	5	KIF3A	5	132069993	Missense_Mutation	SNP	T	TCGA-CV-5966-01A-11D-1683-08	29175067	132069993	48845267	35	43065											
PCDHA4	56144	broad.mit.edu	37	chr5	140188217	140188217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgtctgcgtgggacgCggacgcgcaggagaacgcgc	7	5	17	12	7	1	1	0	0	1	1	1	4	1	3	0	3	2	1	0	3	1	0			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:140188217C>T	ENST00000530339.1	+	1	1445	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A482V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A482V	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGGACGCGGACGCGCAG	0.657													16	59					0	0	0	0	T	140188217	C	T	140188217	3	4	236	1	0	0	0	0	1	0	0	0	11597	768	27	1	1447	1	PCDHA4	5	140188217	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	8118224	140188217	40727043	36	43066											
PCDHB8	56128	broad.mit.edu	37	chr5	140558908	140558908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgacttagggacacccagGctgacaacacatctcaatat	14	8	7	12	0	1	2	1	2	1	0	2	3	1	3	1	2	1	1	1	2	4	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:140558908G>C	ENST00000239444.2	+	1	1538	c.1293G>C	c.(1291-1293)agG>agC	p.R431S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		431	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACACCCAGGCTGACAACAC	0.532													19	69					0	0	0	0	C	140558908	G	C	140558908	3	2	236	1	0	0	0	0	1	0	0	0	11619	1194	42	4	1295	4	PCDHB8	5	140558908	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	370691	140558908	40356352	37	43067											
PCDHB15	56121	broad.mit.edu	37	chr5	140627104	140627104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatggcgagcctccgcgctCggccaccgccacgctgcaag	7	4	12	18	6	0	0	0	0	0	0	2	1	1	0	5	2	2	3	5	2	2	0			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:140627104C>T	ENST00000231173.3	+	1	1958	c.1958C>T	c.(1957-1959)tCg>tTg	p.S653L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		653	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCGCGCTCGGCCACCGCC	0.697													19	60					0	0	0	0	T	140627104	C	T	140627104	3	4	236	1	0	0	0	0	1	0	0	0	11611	893	31	1	1960	1	PCDHB15	5	140627104	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	68196	140627104	40288156	38	43068											
FGF1	2246	broad.mit.edu	37	chr5	141974914	141974914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctggccatagtgagtccGaggaccgcgtttgcagctcc	6	11	12	12	3	1	1	0	1	1	0	3	3	3	2	4	2	2	3	4	2	1	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:141974914G>A	ENST00000359370.6	-	4	488	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	FGF1_ENST00000419524.2_Missense_Mutation_p.R137W|FGF1_ENST00000378046.1_Missense_Mutation_p.R137W|FGF1_ENST00000360966.5_3'UTR|FGF1_ENST00000494579.1_5'UTR|FGF1_ENST00000407758.1_3'UTR|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000337706.2_Missense_Mutation_p.R137W|AC005592.2_ENST00000443800.1_RNA	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	137	Heparin-binding.				angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	TAGTGAGTCCGAGGACCGCGT	0.478													15	41					0	0	0	0	A	141974914	G	A	141974914	3	1	236	1	0	0	0	0	1	0	0	0	5883	1057	37	1	62	1	FGF1	5	141974914	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	1347810	141974914	38940346	39	43069											
TCERG1	10915	broad.mit.edu	37	chr5	145878147	145878147	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgctaaagattcaagattCaaagcaattgaaaagatgaa	20	9	7	5	0	2	5	2	2	0	3	2	5	2	5	0	0	2	2	0	0	8	4			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:145878147C>G	ENST00000296702.5	+	16	2318	c.2280C>G	c.(2278-2280)ttC>ttG	p.F760L	TCERG1_ENST00000394421.2_Missense_Mutation_p.F739L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	760	FF 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCAAGATTCAAAGCAATTG	0.388													16	43					0	0	0	0	G	145878147	C	G	145878147	3	3	236	1	0	0	0	0	1	0	0	0	15779	825	29	2	2342	2	TCERG1	5	145878147	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	3903233	145878147	35037113	40	43070											
ATP10B	23120	broad.mit.edu	37	chr5	160063201	160063201	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctacctggagcaggatGatcattgtgaggaacatgta	11	11	11	8	0	1	2	1	2	0	0	2	5	2	5	2	3	3	2	2	3	3	4			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:160063201G>T	ENST00000327245.5	-	11	1962	c.1116C>A	c.(1114-1116)atC>atA	p.I372I	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	372					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGCAGGATGATCATTGTGA	0.493													10	48					3.86212e-05	4.0954e-05	1	0	T	160063201	G	T	160063201	2	4	236	1	0	0	0	0	0	0	0	1	1121	1280	45	2		2	ATP10B	5	160063201	Silent	SNP	G	TCGA-CV-5966-01A-11D-1683-08	14185054	160063201	20852059	41	43071											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27115271	27115271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgctgcctaagaagactGagagccaccataaggccaaa	14	6	10	11	0	0	3	0	1	0	3	0	4	0	3	4	1	4	2	4	1	4	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:27115271G>A	ENST00000377459.1	+	1	411	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	122					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TAAGAAGACTGAGAGCCACCA	0.522													5	43					0	0	0	0	A	27115271	G	A	27115271	3	1	236	1	0	0	0	0	1	0	0	0	7184	1291	45	2	366	2	HIST1H2AH	6	27115271	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08		27115271	143999796	42	43072											
VARS	7407	broad.mit.edu	37	chr6	31749380	31749380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagaacacactcaggtcttCtgactgagggcagaccaggg	11	7	13	10	0	3	4	1	2	2	2	3	4	3	4	1	3	1	2	1	3	2	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:31749380C>T	ENST00000375663.3	-	21	2862	c.2422G>A	c.(2422-2424)Gaa>Aaa	p.E808K	VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	808					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTCAGGTCTTCTGACTGAGGG	0.637													13	40					0	0	0	0	T	31749380	C	T	31749380	3	4	236	1	0	0	0	0	1	0	0	0	17219	922	32	2	1412	2	VARS	6	31749380	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	4634109	31749380	139365687	43	43073											
TFEB	7942	broad.mit.edu	37	chr6	41655657	41655657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcagtacctgtgagctctCgcttctgggtcaggtccgca	6	10	13	12	2	3	1	1	1	2	0	5	1	4	1	2	3	2	5	2	3	1	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:41655657C>T	ENST00000394283.1	-	5	1885	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	TFEB_ENST00000373033.1_Missense_Mutation_p.R220Q|TFEB_ENST00000358871.2_Missense_Mutation_p.R234Q|TFEB_ENST00000230323.4_Missense_Mutation_p.R220Q|TFEB_ENST00000403298.4_Missense_Mutation_p.R220Q|TFEB_ENST00000420312.1_Missense_Mutation_p.R135Q			P19484	TFEB_HUMAN	transcription factor EB	220					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TGTGAGCTCTCGCTTCTGGGT	0.612			T	ALPHA	renal (childhood epithelioid)								14	53					0	0	0	0	T	41655657	C	T	41655657	3	4	236	1	0	0	0	0	1	0	0	0	15895	884	31	1	791	1	TFEB	6	41655657	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	9906277	41655657	129459410	44	43074											
KIAA1919	91749	broad.mit.edu	37	chr6	111587430	111587430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatctgctgagacatttcGaagagcaaaatatcacaacg	16	8	8	9	2	2	2	1	1	1	2	3	4	2	2	0	0	4	3	0	0	5	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:111587430G>A	ENST00000368847.4	+	4	1018	c.665G>A	c.(664-666)cGa>cAa	p.R222Q		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	222					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GAGACATTTCGAAGAGCAAAA	0.343													13	32					0	0	0	0	A	111587430	G	A	111587430	3	1	236	1	0	0	0	0	1	0	0	0	8313	1058	37	1	679	1	KIAA1919	6	111587430	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	69931773	111587430	59527637	45	43075											
ROS1	6098	broad.mit.edu	37	chr6	117687343	117687343	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatttcttgagttgtgataAtcctaaagccattgatccag	11	15	7	8	0	1	3	0	3	1	0	3	3	3	3	3	0	1	1	3	0	4	7			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:117687343A>C	ENST00000368508.3	-	18	2906	c.2708T>G	c.(2707-2709)aTt>aGt	p.I903S	ROS1_ENST00000368507.3_Missense_Mutation_p.I898S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	903					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGTTGTGATAATCCTAAAGCC	0.423			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								16	106					0	0	0	0	C	117687343	A	C	117687343	3	2	236	1	0	0	0	0	1	0	0	0	13616	101	4	5	4439	5	ROS1	6	117687343	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08	6099913	117687343	53427724	46	43076											
SERINC1	57515	broad.mit.edu	37	chr6	122777667	122777667	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatcactgctactcttcacTttgatcattagtaaagagag	12	13	8	8	0	4	2	3	1	1	1	4	4	4	3	0	1	2	2	0	1	4	5			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:122777667T>C	ENST00000368454.1	-	5	659	c.330A>G	c.(328-330)aaA>aaG	p.K110K	SERINC1_ENST00000339697.3_Silent_p.K110K			Q9NRX5	SERC1_HUMAN	serine incorporator 1	110					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		TACTCTTCACTTTGATCATTA	0.378													11	38					0	0	0	0	C	122777667	T	C	122777667	2	2	236	1	0	0	0	0	0	0	0	1	14166	1606	56	5		5	SERINC1	6	122777667	Silent	SNP	T	TCGA-CV-5966-01A-11D-1683-08	5090324	122777667	48337400	47	43077											
BCLAF1	9774	broad.mit.edu	37	chr6	136597369	136597369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacttgagtccttcctcctCagtattccggtgagatgcag	7	13	10	11	1	1	2	1	2	0	1	5	3	5	2	4	1	2	3	4	1	2	5			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:136597369C>T	ENST00000531224.1	-	5	1546	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	BCLAF1_ENST00000527536.1_Missense_Mutation_p.E432K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E430K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E430K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E430K|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	432					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCTTCCTCCTCAGTATTCCGG	0.413													13	218					0	0	0	0	T	136597369	C	T	136597369	3	4	236	1	0	0	0	0	1	0	0	0	1387	835	29	2	1504	2	BCLAF1	6	136597369	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	13819702	136597369	34517698	48	43078											
MAP7	9053	broad.mit.edu	37	chr6	136710510	136710510	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttgtcctcctcaagtctCtgcctccgcttctcctccac	4	14	4	19	1	3	0	1	0	2	0	9	0	7	0	6	0	1	1	6	0	1	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:136710510C>G	ENST00000354570.3	-	4	800	c.390G>C	c.(388-390)caG>caC	p.Q130H	MAP7_ENST00000438100.2_Missense_Mutation_p.Q152H|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000454590.1_Missense_Mutation_p.Q152H|MAP7_ENST00000544465.1_Missense_Mutation_p.Q115H	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	130					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CCTCAAGTCTCTGCCTCCGCT	0.562													20	89					0	0	0	0	G	136710510	C	G	136710510	3	3	236	1	0	0	0	0	1	0	0	0	9335	912	32	2	1919	2	MAP7	6	136710510	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	113141	136710510	34404557	49	43079											
SYNE1	23345	broad.mit.edu	37	chr6	152694261	152694261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcctggatccctttcgCtttctctttggtcagcaggg	3	16	11	11	1	2	0	1	0	1	0	5	1	3	1	2	4	1	2	2	4	0	4			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:152694261C>T	ENST00000367255.5	-	59	10019	c.9418G>A	c.(9418-9420)Gcg>Acg	p.A3140T	SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3147T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3140					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCCTTTCGCTTTCTCTTTG	0.393										HNSCC(10;0.0054)			29	118					0	0	0	0	T	152694261	C	T	152694261	3	4	236	1	0	0	0	0	1	0	0	0	15536	797	28	4	17400	4	SYNE1	6	152694261	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	15983751	152694261	18420806	50	43080											
THSD7A	221981	broad.mit.edu	37	chr7	11630197	11630197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggccgtctggttgccgCgcctcttgtcctgctgactg	3	11	14	13	3	2	2	0	1	2	1	3	2	3	2	4	2	2	2	4	2	0	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:11630197C>T	ENST00000423059.3	-	4	1594	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	448	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGGTTGCCGCGCCTCTTGTC	0.557										HNSCC(18;0.044)			9	29					0	0	0	0	T	11630197	C	T	11630197	3	4	236	1	0	0	0	0	1	0	0	0	15973	768	27	1	3726	1	THSD7A	7	11630197	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08		11630197	147508466	51	43081											
NPY	4852	broad.mit.edu	37	chr7	24324986	24324986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgggcgaggacgcaccagcgGaggacatggccagatactac	11	3	15	12	4	0	1	0	0	0	1	0	5	0	4	2	5	3	1	2	5	2	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:24324986G>A	ENST00000407573.1	+	3	417	c.127G>A	c.(127-129)Gag>Aag	p.E43K	NPY_ENST00000242152.2_Missense_Mutation_p.E43K|NPY_ENST00000405982.1_Missense_Mutation_p.E43K			P01303	NPY_HUMAN	neuropeptide Y	43					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CGCACCAGCGGAGGACATGGC	0.682													7	27					0	0	0	0	A	24324986	G	A	24324986	3	1	236	1	0	0	0	0	1	0	0	0	10678	1175	41	2	129	2	NPY	7	24324986	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	12694789	24324986	134813677	52	43082											
UPP1	7378	broad.mit.edu	37	chr7	48146983	48146983	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccgtctggatggggctctCtgctcctacacggagaagga	7	8	15	11	2	2	1	0	0	2	1	4	4	3	3	2	6	2	2	2	6	2	1			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:48146983C>G	ENST00000331803.4	+	9	1295	c.672C>G	c.(670-672)ctC>ctG	p.L224L	UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000395564.4_Silent_p.L224L|UPP1_ENST00000341253.4_Silent_p.L224L|UPP1_ENST00000429491.2_Silent_p.L87L			Q16831	UPP1_HUMAN	uridine phosphorylase 1	224					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						ATGGGGCTCTCTGCTCCTACA	0.582													21	36					0	0	0	0	G	48146983	C	G	48146983	2	3	236	1	0	0	0	0	0	0	0	1	17108	900	32	2		2	UPP1	7	48146983	Silent	SNP	C	TCGA-CV-5966-01A-11D-1683-08	23821997	48146983	110991680	53	43083											
ZNF107	51427	broad.mit.edu	37	chr7	64167053	64167053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaactaactcagcatagaaGaattcatactagagtgaatt	18	10	6	7	0	2	4	2	1	0	3	2	4	2	4	0	0	4	1	0	0	8	6			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:64167053G>A	ENST00000395391.1	+	4	1746	c.371G>A	c.(370-372)aGa>aAa	p.R124K	ZNF107_ENST00000344930.3_Missense_Mutation_p.R124K|ZNF107_ENST00000423627.1_Missense_Mutation_p.R124K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R124I(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CAGCATAGAAGAATTCATACT	0.328													6	27					0	0	0	0	A	64167053	G	A	64167053	3	1	236	1	0	0	0	0	1	0	0	0	17810	942	33	2	377	2	ZNF107	7	64167053	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	16020070	64167053	94971610	54	43084											
PCLO	27445	broad.mit.edu	37	chr7	82585177	82585177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggctttccatttccaattCtggctcttcgtcaaaataca	10	14	5	12	1	3	0	1	0	2	0	6	0	5	0	2	2	1	2	2	2	4	5			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:82585177C>T	ENST00000423517.2	-	5	5429	c.5092G>A	c.(5092-5094)Gaa>Aaa	p.E1698K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1698K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1629					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTTCCAATTCTGGCTCTTCG	0.433													8	26					0	0	0	0	T	82585177	C	T	82585177	3	4	236	1	0	0	0	0	1	0	0	0	11654	922	32	2	10437	2	PCLO	7	82585177	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	18418124	82585177	76553486	55	43085											
SLC12A9	56996	broad.mit.edu	37	chr7	100457855	100457855	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attcttggggcctggtgcagGtgagccttcttcttcaaggg	5	13	14	9	0	4	1	1	1	3	0	4	1	4	1	2	5	2	1	2	5	1	5			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:100457855G>A	ENST00000354161.3	+	9	1343		c.e9+1		SLC12A9_ENST00000415287.1_Splice_Site|SLC12A9_ENST00000275729.3_Splice_Site|SLC12A9_ENST00000428758.1_Splice_Site|SLC12A9_ENST00000475623.1_Splice_Site|SLC12A9_ENST00000540482.1_Splice_Site	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9							integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTGGTGCAGGTGAGCCTTCT	0.562													8	26					0	0	0	0	A	100457855	G	A	100457855	5	1	236	1	0	0	0	0	0	0	1	0	14478	1275	44	4	1249	4	SLC12A9	7	100457855	Splice_Site	SNP	G	TCGA-CV-5966-01A-11D-1683-08	17872678	100457855	58680808	56	43086											
PLOD3	8985	broad.mit.edu	37	chr7	100859997	100859997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcacagtgtagttgaagaaCtccgcagagcgcaggaaacg	13	5	13	10	4	0	3	0	1	0	2	1	4	1	4	1	1	3	5	1	1	4	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:100859997C>T	ENST00000223127.3	-	2	578	c.180G>A	c.(178-180)gaG>gaA	p.E60E		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	60					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGTTGAAGAACTCCGCAGAGC	0.607													7	30					0	0	0	0	T	100859997	C	T	100859997	2	4	236	1	0	0	0	0	0	0	0	1	12175	564	20	4		4	PLOD3	7	100859997	Silent	SNP	C	TCGA-CV-5966-01A-11D-1683-08	402142	100859997	58278666	57	43087											
CFTR	1080	broad.mit.edu	37	chr7	117292972	117292972	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtgatcaagaaatatggaAagttgcagatgaggtaaggc	16	8	14	3	0	1	4	1	2	0	2	1	6	1	5	0	3	1	3	0	3	5	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:117292972A>C	ENST00000003084.6	+	24	4082	c.3950A>C	c.(3949-3951)aAa>aCa	p.K1317T	CFTR_ENST00000454343.1_Missense_Mutation_p.K1256T	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1317	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAAATATGGAAAGTTGCAGAT	0.338									Cystic Fibrosis				8	32					0	0	0	0	C	117292972	A	C	117292972	3	2	236	1	0	0	0	0	1	0	0	0	3323	14	1	5	4044	5	CFTR	7	117292972	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08	16432975	117292972	41845691	58	43088											
HR	55806	broad.mit.edu	37	chr8	21986633	21986633	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatgccgttctctggggcCgtcttctcccaggttggggt	3	12	14	12	3	3	0	0	0	3	0	5	1	3	0	3	5	1	2	3	5	0	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:21986633C>T	ENST00000381418.4	-	2	1531	c.51G>A	c.(49-51)acG>acA	p.T17T	HR_ENST00000312841.8_Silent_p.T17T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	17							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCTCTGGGGCCGTCTTCTCCC	0.652													4	78					0	0	0	0	T	21986633	C	T	21986633	2	4	236	1	0	0	0	0	0	0	0	1	7397	639	23	1		1	HR	8	21986633	Silent	SNP	C	TCGA-CV-5966-01A-11D-1683-08		21986633	124377389	59	43089											
ADRA1A	148	broad.mit.edu	37	chr8	26627932	26627932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtctctcttgatcccaCggggatgcgcaccatgtcct	7	10	11	13	2	2	1	0	1	2	0	5	3	4	2	3	3	1	1	3	3	1	1			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:26627932C>T	ENST00000380573.3	-	3	2158	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	ADRA1A_ENST00000354550.4_Missense_Mutation_p.V379M|ADRA1A_ENST00000276393.4_Missense_Mutation_p.V379M|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380582.3_Missense_Mutation_p.V379M|ADRA1A_ENST00000519229.1_Missense_Mutation_p.V379M|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380586.1_Missense_Mutation_p.V379M			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	379					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTTGATCCCACGGGGATGCGC	0.552													23	78					0	0	0	0	T	26627932	C	T	26627932	3	4	236	1	0	0	0	0	1	0	0	0	334	536	19	1	560	1	ADRA1A	8	26627932	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	4641299	26627932	119736090	60	43090											
DCAF13	25879	broad.mit.edu	37	chr8	104453792	104453792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatcgacatctaccaaaatCtatctatagccagattcagg	14	11	5	11	1	5	1	2	0	3	1	6	2	5	1	2	1	2	0	2	1	6	5			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:104453792C>G	ENST00000297579.5	+	10	1929	c.1652C>G	c.(1651-1653)tCt>tGt	p.S551C		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	399					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTACCAAAATCTATCTATAGC	0.393													26	112					0	0	0	0	G	104453792	C	G	104453792	3	3	236	1	0	0	0	0	1	0	0	0	4299	913	32	2	1690	2	DCAF13	8	104453792	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	77825860	104453792	41910230	61	43091											
CYC1	1537	broad.mit.edu	37	chr8	145150852	145150852	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggctctgcattcggctgtGagtgccagtgacctggagct	6	11	14	10	1	1	2	0	2	1	0	2	3	1	3	2	3	3	4	2	3	0	1			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:145150852G>C	ENST00000318911.4	+	2	319	c.246G>C	c.(244-246)gtG>gtC	p.V82V		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	82					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATTCGGCTGTGAGTGCCAGTG	0.662											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	71					0	0	0	0	C	145150852	G	C	145150852	2	2	236	1	0	0	0	0	0	0	0	1	4167	1277	45	2		2	CYC1	8	145150852	Silent	SNP	G	TCGA-CV-5966-01A-11D-1683-08	40697060	145150852	1213170	62	43092											
TTC39B	158219	broad.mit.edu	37	chr9	15185309	15185309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgagcttcacaggtgcaGgtaaggaggcggagtaacgc	12	6	16	7	2	1	2	1	1	0	1	1	4	1	4	0	5	3	4	0	5	2	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:15185309G>A	ENST00000355694.2	-	16	1619	c.1385C>T	c.(1384-1386)cCt>cTt	p.P462L	TTC39B_ENST00000507285.1_Missense_Mutation_p.P363L|TTC39B_ENST00000297615.5_Missense_Mutation_p.P459L|TTC39B_ENST00000380850.4_Missense_Mutation_p.P515L|TTC39B_ENST00000507993.1_Missense_Mutation_p.P363L|TTC39B_ENST00000512701.1_Missense_Mutation_p.P528L	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	462							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CACAGGTGCAGGTAAGGAGGC	0.473													43	102					0	0	0	0	A	15185309	G	A	15185309	3	1	236	1	0	0	0	0	1	0	0	0	16804	1000	35	4	485	4	TTC39B	9	15185309	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08		15185309	126028122	63	43093											
SEMA4D	10507	broad.mit.edu	37	chr9	91978793	91978793	+	Frame_Shift_Del	DEL	T	T	-																															ccctgccatcgggcagtgcaTgggtctgcacagggacacag																										TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:91978793delT	ENST00000420987.1	-	18	2401	c.1955delA	c.(1954-1956)ctfs	p.H652fs	SEMA4D_ENST00000343780.4_Frame_Shift_Del_p.H652fs|SEMA4D_ENST00000455551.2_Frame_Shift_Del_p.H652fs|SEMA4D_ENST00000469653.1_5'UTR|SEMA4D_ENST00000339861.4_Frame_Shift_Del_p.H652fs|SEMA4D_ENST00000420101.2_Frame_Shift_Del_p.H37fs	NM_001142287.1	NP_001135759.1	Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	0					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGGCAGTGCATGGGTCTGCAC	0.607													8	79	---	---	---	---					-	91978793	T	-	91978793	7	5	236	1	0	1	0	1	0	0	0	0	14121	1464	51	0	273	0	SEMA4D	9	91978793	Frame_Shift_Del	DEL	T	TCGA-CV-5966-01A-11D-1683-08	76793484	91978793	49234638	64	43094											
COL27A1	85301	broad.mit.edu	37	chr9	116930511	116930511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctgtgacgcaggtcgctCacaattactgtacccacctg	9	9	8	15	2	1	1	1	1	0	0	2	1	1	1	3	1	2	3	3	1	3	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:116930511C>T	ENST00000356083.3	+	3	1067	c.676C>T	c.(676-678)Cac>Tac	p.H226Y		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	226	Laminin G-like.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCAGGTCGCTCACAATTACTG	0.557													24	64					0	0	0	0	T	116930511	C	T	116930511	3	4	236	1	0	0	0	0	1	0	0	0	3715	826	29	2	686	2	COL27A1	9	116930511	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	24951718	116930511	24282920	65	43095											
GOLGA1	2800	broad.mit.edu	37	chr9	127652667	127652667	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcgtgaaacagggcccaCctgttgctggaactcttccc	8	9	10	14	1	2	1	1	1	1	0	3	2	3	2	3	2	4	2	3	2	2	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr9:127652667C>A	ENST00000373555.4	-	16	1831		c.e16+1			NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1							Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						ACAGGGCCCACCTGTTGCTGG	0.597													4	57					0.00909568	0.00932307	1	0	A	127652667	C	A	127652667	5	1	236	1	0	0	0	0	0	0	1	0	6602	521	18	4	837	4	GOLGA1	9	127652667	Splice_Site	SNP	C	TCGA-CV-5966-01A-11D-1683-08	10722156	127652667	13560764	66	43096											
COL5A1	1289	broad.mit.edu	37	chr9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaattcgctttcagtacaCggaaggagacggcgagggtg	10	7	15	9	5	1	1	1	0	0	1	2	4	1	2	0	4	1	3	0	4	3	3	rs148548209		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:137620520C>T	ENST00000371817.3	+	6	1205	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	264	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTCAGTACACGGAAGGAGAC	0.612													46	173					0	0	0	0	T	137620520	C	T	137620520	3	4	236	1	0	0	0	0	1	0	0	0	3726	536	19	1	813	1	COL5A1	9	137620520	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	9967853	137620520	3592911	67	43097											
COL5A1	1289	broad.mit.edu	37	chr9	137716559	137716559	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgagaactacgtggactaCgcggacggcatggaagagat	12	5	16	8	5	0	2	0	0	0	2	0	7	0	5	0	5	3	1	0	5	4	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:137716559C>T	ENST00000371817.3	+	62	5226	c.4812C>T	c.(4810-4812)taC>taT	p.Y1604Y		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1604	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACGTGGACTACGCGGACGGCA	0.622													12	29					0	0	0	0	T	137716559	C	T	137716559	2	4	236	1	0	0	0	0	0	0	0	1	3726	547	19	1		1	COL5A1	9	137716559	Silent	SNP	C	TCGA-CV-5966-01A-11D-1683-08	96039	137716559	3496872	68	43098											
NOTCH1	4851	broad.mit.edu	37	chr9	139409935	139409936	+	Splice_Site	INS	-	-	TG																															cacccgcctggccggccaccINStgtggtccccttcaggcaga																										TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:139409935_139409936insTG	ENST00000277541.6	-	11	1977_1978	c.1903_splice	c.e11+1	p.T635_splice		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	635	EGF-like 16; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCGGCCACCTGTGGTCCCCT	0.698			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			14	41	---	---	---	---					TG	139409936	-	TG	139409935	8	5	236	1	0	1	1	0	0	0	1	0	10617	695	24	0	5860	0	NOTCH1	9	139409935	Splice_Site	INS	-	TCGA-CV-5966-01A-11D-1683-08	1693376	139409935	1803496	69	43099											
ARID5B	84159	broad.mit.edu	37	chr10	63661489	63661489	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagcccaactcactccaGgtatttcgctctcctccgct	7	11	7	16	2	2	0	1	0	1	0	6	1	4	1	4	2	2	3	4	2	2	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:63661489G>A	ENST00000279873.7	+	1	431	c.21_splice	c.e1+1	p.Q7_splice		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	7					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACTCACTCCAGGTATTTCGCT	0.587													7	32					0	0	0	0	A	63661489	G	A	63661489	5	1	236	1	0	0	0	0	0	0	1	0	924	1014	35	4	23	4	ARID5B	10	63661489	Splice_Site	SNP	G	TCGA-CV-5966-01A-11D-1683-08		63661489	71873258	70	43100											
HERC4	26091	broad.mit.edu	37	chr10	69748547	69748547	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacttccttaaaaagttctActatcttgaggaatagtgga	14	13	7	7	0	2	1	0	1	2	0	3	3	3	3	1	2	2	1	1	2	8	7			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr10:69748547A>G	ENST00000395198.3	-	15	1926	c.1679T>C	c.(1678-1680)gTa>gCa	p.V560A	HERC4_ENST00000412272.2_Missense_Mutation_p.V560A|HERC4_ENST00000373700.4_Missense_Mutation_p.V560A|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Missense_Mutation_p.V450A	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	560					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AAAAAGTTCTACTATCTTGAG	0.318													7	198					0	0	0	0	G	69748547	A	G	69748547	3	3	236	1	0	0	0	0	1	0	0	0	7110	391	14	5	1542	5	HERC4	10	69748547	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08	6087058	69748547	65786200	71	43101											
DNA2	1763	broad.mit.edu	37	chr10	70204742	70204742	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttttctcttcctcaattaTttgtggcaaagaagcaagct	11	15	7	8	0	2	1	1	0	1	1	4	1	3	1	1	1	2	4	1	1	5	5			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:70204742T>C	ENST00000399180.2	-	8	1413	c.1414A>G	c.(1414-1416)Ata>Gta	p.I472V	DNA2_ENST00000399179.2_Missense_Mutation_p.I386V|DNA2_ENST00000358410.3_Missense_Mutation_p.I386V			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	386					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TCCTCAATTATTTGTGGCAAA	0.343													20	44					0	0	0	0	C	70204742	T	C	70204742	3	2	236	1	0	0	0	0	1	0	0	0	4633	1493	52	5	2082	5	DNA2	10	70204742	Missense_Mutation	SNP	T	TCGA-CV-5966-01A-11D-1683-08	456195	70204742	65330005	72	43102											
DLG5	9231	broad.mit.edu	37	chr10	79569435	79569435	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagctccagctgggactttTtgatgaagacaacgcgtggc	10	9	12	10	2	0	3	0	2	0	1	1	4	1	4	1	2	3	2	1	2	3	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:79569435T>C	ENST00000372391.2	-	24	4522	c.4517A>G	c.(4516-4518)aAa>aGa	p.K1506R	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.K1166R	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1506	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGGGACTTTTTGATGAAGAC	0.542													70	162					0	0	0	0	C	79569435	T	C	79569435	3	2	236	1	0	0	0	0	1	0	0	0	4595	1841	64	5	1278	5	DLG5	10	79569435	Missense_Mutation	SNP	T	TCGA-CV-5966-01A-11D-1683-08	9364693	79569435	55965312	73	43103											
GRID1	2894	broad.mit.edu	37	chr10	87615919	87615919	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcgttggccagcatcagaAcactgtcatacagatagagg	13	7	12	9	1	2	3	2	0	0	3	2	3	2	3	1	3	3	2	1	3	3	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:87615919A>G	ENST00000327946.7	-	7	1065	c.980T>C	c.(979-981)gTt>gCt	p.V327A		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	327						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CAGCATCAGAACACTGTCATA	0.498										Multiple Myeloma(13;0.14)			18	36					0	0	0	0	G	87615919	A	G	87615919	3	3	236	1	0	0	0	0	1	0	0	0	6821	43	2	5	2089	5	GRID1	10	87615919	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08	8046484	87615919	47918828	74	43104											
ATRNL1	26033	broad.mit.edu	37	chr10	117704198	117704198	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgccagtgccctaatagatAtttcacaacagaaagcttca	14	11	6	10	0	2	2	2	0	0	2	2	2	2	2	2	0	4	1	2	0	5	6			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:117704198A>G	ENST00000355044.3	+	29	4174	c.4048A>G	c.(4048-4050)Att>Gtt	p.I1350V	ATRNL1_ENST00000423111.2_Missense_Mutation_p.I401V|ATRNL1_ENST00000303745.7_Missense_Mutation_p.I143V	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1350						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCTAATAGATATTTCACAACA	0.423													22	49					0	0	0	0	G	117704198	A	G	117704198	3	3	236	1	0	0	0	0	1	0	0	0	1211	449	16	5	4162	5	ATRNL1	10	117704198	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08	30088279	117704198	17830549	75	43105											
DCHS1	8642	broad.mit.edu	37	chr11	6662135	6662135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacgtccagcagggcctggGccctccgggggggtgaacca	6	5	16	14	2	1	1	1	1	0	0	3	1	3	1	5	5	2	1	5	5	1	0			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:6662135G>T	ENST00000299441.3	-	2	1121	c.710C>A	c.(709-711)gCc>gAc	p.A237D		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	237	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGGCCTGGGCCCTCCGGGG	0.597													25	115					1.42536e-11	1.56393e-11	1	0	T	6662135	G	T	6662135	3	4	236	1	0	0	0	0	1	0	0	0	4319	1203	42	4	9266	4	DCHS1	11	6662135	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08		6662135	128344381	76	43106											
ST5	6764	broad.mit.edu	37	chr11	8728695	8728695	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctggggctgggaagggCgactccatgagacttctcat	7	10	13	11	1	1	1	1	1	1	1	4	4	3	2	2	4	0	1	2	4	1	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:8728695C>T	ENST00000534127.1	-	16	2893	c.2508G>A	c.(2506-2508)tcG>tcA	p.S836S	ST5_ENST00000530438.1_Silent_p.S416S|ST5_ENST00000357665.1_Silent_p.S836S|ST5_ENST00000313726.6_Silent_p.S836S|ST5_ENST00000526757.1_Silent_p.S416S|ST5_ENST00000526099.1_Silent_p.S349S|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534278.1_Silent_p.S27S|ST5_ENST00000530991.1_Silent_p.S308S	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	836	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGGGAAGGGCGACTCCATGA	0.592													11	33					0	0	0	0	T	8728695	C	T	8728695	2	4	236	1	0	0	0	0	0	0	0	1	15310	755	27	1		1	ST5	11	8728695	Silent	SNP	C	TCGA-CV-5966-01A-11D-1683-08	2066560	8728695	126277821	77	43107											
CSRP3	8048	broad.mit.edu	37	chr11	19209725	19209725	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcccgtgtctgtgctgAgacagccagcgccttgtcca	5	9	12	15	3	1	1	0	1	1	1	3	2	2	1	4	0	3	2	4	0	0	1			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:19209725A>T	ENST00000533783.1	-	4	479	c.239T>A	c.(238-240)cTc>cAc	p.L80H	CSRP3_ENST00000265968.3_Missense_Mutation_p.L80H	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	80					cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						GTCTGTGCTGAGACAGCCAGC	0.567													18	97					0	0	0	0	T	19209725	A	T	19209725	3	4	236	1	0	0	0	0	1	0	0	0	4001	304	11	5	361	5	CSRP3	11	19209725	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08	10481030	19209725	115796791	78	43108											
HIPK3	10114	broad.mit.edu	37	chr11	33308310	33308310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtggcgaaacagattgcAtttcctagaaggcccccagc	10	7	12	12	2	0	2	0	0	0	2	1	3	1	2	3	3	3	1	3	3	3	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:33308310A>G	ENST00000303296.4	+	2	655	c.350A>G	c.(349-351)cAt>cGt	p.H117R	HIPK3_ENST00000379016.3_Missense_Mutation_p.H117R|HIPK3_ENST00000456517.1_Missense_Mutation_p.H117R|HIPK3_ENST00000525975.1_Missense_Mutation_p.H117R	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	117					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AACAGATTGCATTTCCTAGAA	0.498													11	39					0	0	0	0	G	33308310	A	G	33308310	3	3	236	1	0	0	0	0	1	0	0	0	7168	217	8	5	352	5	HIPK3	11	33308310	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08	14098585	33308310	101698206	79	43109											
ALKBH3	221120	broad.mit.edu	37	chr11	43923092	43923092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgtgctgcgcacactaaaGaaccgcattgaagagaacac	14	6	9	12	2	0	3	0	1	0	2	0	4	0	3	2	0	4	3	2	0	5	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:43923092G>C	ENST00000302708.4	+	8	897	c.486G>C	c.(484-486)aaG>aaC	p.K162N	ALKBH3_ENST00000532410.1_Intron	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	162					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GCACACTAAAGAACCGCATTG	0.488								Direct reversal of damage					11	32					0	0	0	0	C	43923092	G	C	43923092	3	2	236	1	0	0	0	0	1	0	0	0	528	933	33	2	512	2	ALKBH3	11	43923092	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	10614782	43923092	91083424	80	43110											
NUMA1	4926	broad.mit.edu	37	chr11	71717271	71717271	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaccgcgtgctgtagaaCgatgagttggcgctgtctgg	7	9	16	9	4	1	3	0	1	1	2	1	4	1	3	1	2	2	5	1	2	2	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:71717271C>T	ENST00000393695.3	-	22	5833	c.5502G>A	c.(5500-5502)tcG>tcA	p.S1834S	NUMA1_ENST00000358965.6_Silent_p.S1820S|NUMA1_ENST00000351960.6_Silent_p.S698S	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1834					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGTAGAACGATGAGTTGG	0.552			T	RARA	APL								6	56					0	0	0	0	T	71717271	C	T	71717271	2	4	236	1	0	0	0	0	0	0	0	1	10821	523	19	1		1	NUMA1	11	71717271	Silent	SNP	C	TCGA-CV-5966-01A-11D-1683-08	27794179	71717271	63289245	81	43111											
PRDM10	56980	broad.mit.edu	37	chr11	129827743	129827743	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacaccacctgctgtgggggGcgaacctggtcatcggtata	8	9	13	11	2	1	0	1	0	0	0	2	1	1	0	3	5	3	2	3	5	4	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:129827743G>A	ENST00000358825.5	-	3	363	c.132C>T	c.(130-132)cgC>cgT	p.R44R	PRDM10_ENST00000360871.3_Silent_p.R44R|PRDM10_ENST00000528746.1_Silent_p.R44R	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCTGTGGGGGGCGAACCTGGT	0.537													51	182					0	0	0	0	A	129827743	G	A	129827743	2	1	236	1	0	0	0	0	0	0	0	1	12531	1190	42	4		4	PRDM10	11	129827743	Silent	SNP	G	TCGA-CV-5966-01A-11D-1683-08	58110472	129827743	5178773	82	43112											
LRRK2	120892	broad.mit.edu	37	chr12	40715964	40715964	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtttcttaaaaattacAgttccttcttgtagaaaagg	14	14	8	5	0	2	2	0	0	2	2	3	3	3	2	1	1	1	3	1	1	7	7			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:40715964A>T	ENST00000298910.7	+	36	5356	c.5298A>T	c.(5296-5298)acA>acT	p.T1766T		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1766					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAAAAATTACAGTTCCTTCTT	0.303													9	35					0	0	0	0	T	40715964	A	T	40715964	2	4	236	1	0	0	0	0	0	0	0	1	9097	175	7	5		5	LRRK2	12	40715964	Silent	SNP	A	TCGA-CV-5966-01A-11D-1683-08		40715964	93135931	83	43113											
ITGA7	3679	broad.mit.edu	37	chr12	56091493	56091493	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctgaagagcactgcGgtgtcagccagggagcccac	9	5	13	14	1	2	2	2	1	0	1	2	3	2	3	3	2	4	2	3	2	1	0			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:56091493G>A	ENST00000257880.7	-	10	1746	c.1527C>T	c.(1525-1527)acC>acT	p.T509T	ITGA7_ENST00000555728.1_Silent_p.T509T|ITGA7_ENST00000452168.2_Silent_p.T372T|ITGA7_ENST00000257879.6_Silent_p.T465T|ITGA7_ENST00000347027.6_Silent_p.T465T|ITGA7_ENST00000394230.2_Silent_p.T469T|ITGA7_ENST00000394229.2_Silent_p.T465T|ITGA7_ENST00000553804.1_Silent_p.T469T			Q13683	ITA7_HUMAN	integrin, alpha 7	509					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGAGCACTGCGGTGTCAGCCA	0.597													19	53					0	0	0	0	A	56091493	G	A	56091493	2	1	236	1	0	0	0	0	0	0	0	1	7934	1103	39	1		1	ITGA7	12	56091493	Silent	SNP	G	TCGA-CV-5966-01A-11D-1683-08	15375529	56091493	77760402	84	43114											
CCDC60	160777	broad.mit.edu	37	chr12	119917004	119917004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgctaaccgaggctcaCgtgtaagtagtctcacctcc	8	9	8	16	3	2	0	2	0	1	0	5	1	3	0	4	1	1	4	4	1	3	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:119917004C>G	ENST00000327554.2	+	4	912	c.447C>G	c.(445-447)caC>caG	p.H149Q	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	149										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCGAGGCTCACGTGTAAGTAG	0.478													5	28					0	0	0	0	G	119917004	C	G	119917004	3	3	236	1	0	0	0	0	1	0	0	0	2858	535	19	3	461	3	CCDC60	12	119917004	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	63825511	119917004	13934891	85	43115											
WDR66	144406	broad.mit.edu	37	chr12	122369654	122369654	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcccttgtcttccagacCatgacctggtcgtttggatg	5	15	10	11	1	1	2	0	1	1	1	3	3	2	3	4	2	1	1	4	2	0	4			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:122369654C>T	ENST00000288912.4	+	4	1604	c.750C>T	c.(748-750)acC>acT	p.T250T	WDR66_ENST00000397454.2_Silent_p.T250T	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	250							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCTTCCAGACCATGACCTGGT	0.502													3	25					0	0	0	0	T	122369654	C	T	122369654	2	4	236	1	0	0	0	0	0	0	0	1	17413	581	21	4		4	WDR66	12	122369654	Silent	SNP	C	TCGA-CV-5966-01A-11D-1683-08	2452650	122369654	11482241	86	43116											
DNAH10	196385	broad.mit.edu	37	chr12	124371815	124371815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttcacggatgcccatgtgGctgaggagggcttcctggag	6	10	16	9	1	1	1	1	1	0	0	2	4	2	4	2	5	1	3	2	5	0	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:124371815G>A	ENST00000409039.3	+	51	8621	c.8596G>A	c.(8596-8598)Gct>Act	p.A2866T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2866	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCCCATGTGGCTGAGGAGGG	0.542													6	30					0	0	0	0	A	124371815	G	A	124371815	3	1	236	1	0	0	0	0	1	0	0	0	4635	1203	42	4	8798	4	DNAH10	12	124371815	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	2002161	124371815	9480080	87	43117											
CKAP2	26586	broad.mit.edu	37	chr13	53048164	53048164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaaacccccaatacagaaAcgaggacaagttgcttaatt	17	9	6	9	1	0	1	0	0	0	1	0	3	0	2	2	1	4	2	2	1	7	5			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:53048164A>G	ENST00000378037.5	+	8	1840	c.1750A>G	c.(1750-1752)Acg>Gcg	p.T584A	CKAP2_ENST00000490903.1_Missense_Mutation_p.T535A|CKAP2_ENST00000258607.5_Missense_Mutation_p.T583A	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	584					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CAATACAGAAACGAGGACAAG	0.328													12	43					0	0	0	0	G	53048164	A	G	53048164	3	3	236	1	0	0	0	0	1	0	0	0	3472	43	2	5	1780	5	CKAP2	13	53048164	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08		53048164	62121714	88	43118											
DACH1	1602	broad.mit.edu	37	chr13	72440352	72440352	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattttgcactcattattctGaggggtgttttccactgggg	6	16	11	8	0	2	1	1	1	1	0	3	1	3	1	1	4	1	2	1	4	1	6			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:72440352G>A	ENST00000305425.4	-	1	978	c.556C>T	c.(556-558)Cag>Tag	p.Q186*	DACH1_ENST00000313174.7_Nonsense_Mutation_p.Q186*|DACH1_ENST00000359684.2_Nonsense_Mutation_p.Q186*|DACH1_ENST00000354591.4_Nonsense_Mutation_p.Q186*	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	184					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCATTATTCTGAGGGGTGTTT	0.607													7	21					0	0	0	0	A	72440352	G	A	72440352	4	1	236	1	0	0	0	0	0	1	0	0	4253	1299	45	2	1614	2	DACH1	13	72440352	Nonsense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	19392188	72440352	42729526	89	43119											
MYCBP2	23077	broad.mit.edu	37	chr13	77625998	77625998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatgagctctctgggatcaTaatcatctccccgtccagcc	10	10	7	14	1	4	1	2	1	2	0	7	2	5	2	4	1	2	1	4	1	2	1			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:77625998T>C	ENST00000407578.2	-	81	13969	c.13703A>G	c.(13702-13704)tAt>tGt	p.Y4568C	MYCBP2_ENST00000544440.2_Missense_Mutation_p.Y4530C|MYCBP2_ENST00000357337.6_Missense_Mutation_p.Y4530C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTGGGATCATAATCATCTCC	0.428													7	22					0	0	0	0	C	77625998	T	C	77625998	3	2	236	1	0	0	0	0	1	0	0	0	10088	1406	49	5	345	5	MYCBP2	13	77625998	Missense_Mutation	SNP	T	TCGA-CV-5966-01A-11D-1683-08	5185646	77625998	37543880	90	43120											
MYCBP2	23077	broad.mit.edu	37	chr13	77672743	77672743	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtacttttttgaggtagaTttttatcatgtggtgaggag	9	17	12	3	0	1	3	1	2	0	1	1	4	1	4	0	3	1	2	0	3	3	8			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:77672743T>C	ENST00000407578.2	-	56	8812	c.8546A>G	c.(8545-8547)aAt>aGt	p.N2849S	MYCBP2_ENST00000544440.2_Missense_Mutation_p.N2811S|MYCBP2_ENST00000360084.5_Missense_Mutation_p.N334S|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N2811S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGAGGTAGATTTTTATCATG	0.483													22	56					0	0	0	0	C	77672743	T	C	77672743	3	2	236	1	0	0	0	0	1	0	0	0	10088	1493	52	5	5602	5	MYCBP2	13	77672743	Missense_Mutation	SNP	T	TCGA-CV-5966-01A-11D-1683-08	46745	77672743	37497135	91	43121											
SPRY2	10253	broad.mit.edu	37	chr13	80911560	80911560	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggacctgcgagtgctggAgcctaggaggctggcggtgc	7	7	18	9	2	0	0	0	0	0	0	0	4	0	3	2	6	4	2	2	6	2	1			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:80911560A>C	ENST00000377102.1	-	2	1258	c.281T>G	c.(280-282)cTc>cGc	p.L94R	SPRY2_ENST00000540649.1_Missense_Mutation_p.L94R|SPRY2_ENST00000377104.3_Missense_Mutation_p.L94R			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	94					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CGAGTGCTGGAGCCTAGGAGG	0.622													17	62					0	0	0	0	C	80911560	A	C	80911560	3	2	236	1	0	0	0	0	1	0	0	0	15196	304	11	5	670	5	SPRY2	13	80911560	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08	3238817	80911560	34258318	92	43122											
OR4N5	390437	broad.mit.edu	37	chr14	20612330	20612330	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcctgctatgcattatcgTtggttctgtggcttgggggc	4	14	15	8	1	1	0	0	0	1	0	2	1	1	0	1	4	3	5	1	4	2	5			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr14:20612330T>C	ENST00000333629.1	+	1	436	c.436T>C	c.(436-438)Ttg>Ctg	p.L146L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGCATTATCGTTGGTTCTGTG	0.498													12	117					0	0	0	0	C	20612330	T	C	20612330	2	2	236	1	0	0	0	0	0	0	0	1	11150	1722	60	5		5	OR4N5	14	20612330	Silent	SNP	T	TCGA-CV-5966-01A-11D-1683-08		20612330	86737210	93	43123											
CHURC1	91612	broad.mit.edu	37	chr14	65390788	65390788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaagcgggattttatgcTgatcacaaacaaatccttga	14	11	8	8	1	1	2	1	2	0	0	2	3	2	3	1	1	3	2	1	1	4	4			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr14:65390788T>C	ENST00000607599.1	+	2	254	c.200T>C	c.(199-201)cTg>cCg	p.L67P	CHURC1_ENST00000549115.1_Missense_Mutation_p.L67P|CHURC1_ENST00000552002.2_Missense_Mutation_p.L40P|CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.L40P|CHURC1_ENST00000359118.2_Missense_Mutation_p.L40P|CHURC1-FNTB_ENST00000542227.1_5'UTR|CHURC1_ENST00000548752.2_Missense_Mutation_p.L67P	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3			churchill domain containing 1											breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		GATTTTATGCTGATCACAAAC	0.383													14	63					0	0	0	0	C	65390788	T	C	65390788	3	2	236	1	0	0	0	0	1	0	0	0	3446	1580	55	5	125	5	CHURC1	14	65390788	Missense_Mutation	SNP	T	TCGA-CV-5966-01A-11D-1683-08	44778458	65390788	41958752	94	43124											
C16orf11	146325	broad.mit.edu	37	chr16	614994	614994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacgcacccctcgacctctCtgtgaaacgtgcgcccgcca	8	6	9	18	5	1	2	0	1	1	1	3	3	1	2	5	0	2	1	5	0	1	0			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:614994C>G	ENST00000409413.3	+	3	1682	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	468										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CTCGACCTCTCTGTGAAACGT	0.726													3	13					0	0	0	0	G	614994	C	G	614994	3	3	236	1	0	0	0	0	1	0	0	0	1823	913	32	2	1409	2	C16orf11	16	614994	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08		614994	89739759	95	43125											
USP31	57478	broad.mit.edu	37	chr16	23117549	23117549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaccttgtgtggggcagaGgaattggcaaagaaatgcaa	13	9	13	6	0	0	2	0	0	0	2	0	3	0	3	1	4	2	3	1	4	5	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:23117549G>A	ENST00000219689.7	-	4	937	c.938C>T	c.(937-939)cCt>cTt	p.P313L		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	313					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTGGGGCAGAGGAATTGGCAA	0.388													9	46					0	0	0	0	A	23117549	G	A	23117549	3	1	236	1	0	0	0	0	1	0	0	0	17158	1000	35	4	3172	4	USP31	16	23117549	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	22502555	23117549	67237204	96	43126											
TAOK2	9344	broad.mit.edu	37	chr16	30002109	30002109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcatcttccccagctgcGgcttgatgagacccaggagg	7	10	12	12	1	2	2	1	2	1	1	3	4	3	3	3	3	2	3	3	3	0	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:30002109G>A	ENST00000279394.3	+	18	2853	c.2450G>A	c.(2449-2451)cGg>cAg	p.R817Q		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	696	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCCCAGCTGCGGCTTGATGAG	0.592													18	48					0	0	0	0	A	30002109	G	A	30002109	3	1	236	1	0	0	0	0	1	0	0	0	15639	1116	39	1	3992	1	TAOK2	16	30002109	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	6884560	30002109	60352644	97	43127											
CHD9	80205	broad.mit.edu	37	chr16	53289642	53289642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagattttactacgtcgtaCaaaaactattacaattgaat	16	14	4	7	2	1	2	1	1	0	1	2	2	1	2	0	0	5	1	0	0	9	7			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:53289642C>T	ENST00000566029.1	+	19	4369	c.4160C>T	c.(4159-4161)aCa>aTa	p.T1387I	CHD9_ENST00000447540.1_Missense_Mutation_p.T1387I|CHD9_ENST00000564845.1_Missense_Mutation_p.T1387I|CHD9_ENST00000398510.3_Missense_Mutation_p.T1387I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1387					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTACGTCGTACAAAAACTATT	0.393													21	197					0	0	0	0	T	53289642	C	T	53289642	3	4	236	1	0	0	0	0	1	0	0	0	3361	478	17	4	4230	4	CHD9	16	53289642	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	23287533	53289642	37065111	98	43128											
HERPUD1	9709	broad.mit.edu	37	chr16	56974084	56974084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctacattttctgtttttCtcagtatcctctacttctac	7	19	3	12	0	4	0	1	0	4	0	6	0	5	0	1	0	4	3	1	0	4	9			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:56974084C>T	ENST00000439977.2	+	6	1029	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	HERPUD1_ENST00000379792.2_Missense_Mutation_p.L253F|HERPUD1_ENST00000300302.5_Missense_Mutation_p.L277F|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000570273.1_Intron	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	278						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TTCTGTTTTTCTCAGTATCCT	0.433			T	ERG	prostate								81	70					0	0	0	0	T	56974084	C	T	56974084	3	4	236	1	0	0	0	0	1	0	0	0	7113	913	32	2	854	2	HERPUD1	16	56974084	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	3684442	56974084	33380669	99	43129											
FAM192A	80011	broad.mit.edu	37	chr16	57188404	57188404	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaggtgtttccgagagacTtgcaggatgagggctctgca	8	9	17	7	1	1	2	0	1	1	1	2	6	2	4	1	4	2	4	1	4	0	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:57188404T>G	ENST00000309137.8	-	7	821	c.563A>C	c.(562-564)aAg>aCg	p.K188T	FAM192A_ENST00000567439.1_Missense_Mutation_p.K188T|FAM192A_ENST00000569266.1_Missense_Mutation_p.K188T|FAM192A_ENST00000389447.5_Missense_Mutation_p.K188T|FAM192A_ENST00000564108.1_Missense_Mutation_p.K188T|FAM192A_ENST00000566077.1_Missense_Mutation_p.K111T	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	188						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						TCCGAGAGACTTGCAGGATGA	0.557													8	35					0	0	0	0	G	57188404	T	G	57188404	3	3	236	1	0	0	0	0	1	0	0	0	5566	1609	56	5	205	5	FAM192A	16	57188404	Missense_Mutation	SNP	T	TCGA-CV-5966-01A-11D-1683-08	214320	57188404	33166349	100	43130											
CDH3	1001	broad.mit.edu	37	chr16	68712178	68712178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcccccagagactgaatCaggtacgactgtgccttctc	8	10	8	15	1	2	2	1	1	1	1	4	4	3	2	4	1	2	1	4	1	2	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:68712178C>G	ENST00000264012.4	+	4	932	c.388C>G	c.(388-390)Cag>Gag	p.Q130E	CDH3_ENST00000429102.2_Missense_Mutation_p.Q130E|CDH3_ENST00000581171.1_Missense_Mutation_p.Q75E	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	130	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GAGACTGAATCAGGTACGACT	0.527													9	34					0	0	0	0	G	68712178	C	G	68712178	3	3	236	1	0	0	0	0	1	0	0	0	3140	827	29	2	402	2	CDH3	16	68712178	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	11523774	68712178	21642575	101	43131											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2867251	2867251	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcaccccaacatcgctgggGagcagcatctgtgaggagga	10	5	15	11	1	1	1	0	1	1	0	2	4	1	4	2	5	3	4	2	5	1	0			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr17:2867251G>C	ENST00000254695.8	+	7	471	c.381G>C	c.(379-381)ggG>ggC	p.G127G	RAP1GAP2_ENST00000542807.1_Silent_p.G127G|RAP1GAP2_ENST00000540393.2_Silent_p.G108G|RAP1GAP2_ENST00000366401.4_Silent_p.G112G|CTD-3060P21.1_ENST00000574885.1_RNA	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	127					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CATCGCTGGGGAGCAGCATCT	0.602													11	35					0	0	0	0	C	2867251	G	C	2867251	2	2	236	1	0	0	0	0	0	0	0	1	13120	1161	41	2		2	RAP1GAP2	17	2867251	Silent	SNP	G	TCGA-CV-5966-01A-11D-1683-08		2867251	78327959	102	43132											
TP53	7157	broad.mit.edu	37	chr17	7578479	7578479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacgcgggtgccgggcggggGtgtggaatcaacccacagct	7	5	18	11	4	1	0	1	0	0	0	1	2	1	1	2	5	3	1	2	5	2	0	rs28934874		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr17:7578479G>T	ENST00000420246.2	-	5	583	c.451C>A	c.(451-453)Ccc>Acc	p.P151T	TP53_ENST00000413465.2_Missense_Mutation_p.P151T|TP53_ENST00000359597.4_Missense_Mutation_p.P151T|TP53_ENST00000269305.4_Missense_Mutation_p.P151T|TP53_ENST00000455263.2_Missense_Mutation_p.P151T|TP53_ENST00000445888.2_Missense_Mutation_p.P151T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGGCGGGGGTGTGGAATCA	0.612		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	33					3.65163e-15	4.12112e-15	1	0	T	7578479	G	T	7578479	3	4	236	1	0	0	0	0	1	0	0	0	16476	1261	44	4	847	4	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	4711228	7578479	73616731	103	43133											
SLC47A2	146802	broad.mit.edu	37	chr17	19605988	19605988	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaccagggcaatgacatctCtgcagaagaaatgagaaagc	16	6	10	9	0	2	4	1	2	1	3	3	5	2	4	1	1	2	2	1	1	4	0			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr17:19605988C>G	ENST00000350657.5	-	14	1311		c.e14-1		SLC47A2_ENST00000325411.5_Splice_Site|SLC47A2_ENST00000463318.1_Splice_Site	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2							integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					AATGACATCTCTGCAGAAGAA	0.453													6	13					0	0	0	0	G	19605988	C	G	19605988	5	3	236	1	0	0	0	0	0	0	1	0	14736	927	32	2	626	2	SLC47A2	17	19605988	Splice_Site	SNP	C	TCGA-CV-5966-01A-11D-1683-08	12027509	19605988	61589222	104	43134											
ADCYAP1	116	broad.mit.edu	37	chr18	909585	909585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggcggccgtcctagggaaGaggtataaacaaagggttaa	13	8	14	6	2	0	1	0	0	0	1	1	2	1	2	2	5	1	2	2	5	7	5			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr18:909585G>C	ENST00000579794.1	+	4	758	c.480G>C	c.(478-480)aaG>aaC	p.K160N	ADCYAP1_ENST00000450565.3_Missense_Mutation_p.K160N	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	160					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TCCTAGGGAAGAGGTATAAAC	0.507													13	194					0	0	0	0	C	909585	G	C	909585	3	2	236	1	0	0	0	0	1	0	0	0	302	933	33	2	494	2	ADCYAP1	18	909585	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08		909585	77167663	105	43135											
ANKRD12	23253	broad.mit.edu	37	chr18	9257171	9257171	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaattataagcgaggggagAcctaccatagaagttcgaag	15	8	11	7	2	0	2	0	0	0	2	1	5	0	2	2	2	2	1	2	2	7	6			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr18:9257171A>G	ENST00000383440.2	+	8	4094	c.3837A>G	c.(3835-3837)agA>agG	p.R1279R	ANKRD12_ENST00000400020.3_Silent_p.R1279R|ANKRD12_ENST00000262126.3_Silent_p.R1302R	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1302						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GCGAGGGGAGACCTACCATAG	0.398													50	70					0	0	0	0	G	9257171	A	G	9257171	2	3	236	1	0	0	0	0	0	0	0	1	640	272	10	5		5	ANKRD12	18	9257171	Silent	SNP	A	TCGA-CV-5966-01A-11D-1683-08	8347586	9257171	68820077	106	43136											
MIB1	57534	broad.mit.edu	37	chr18	19424087	19424087	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgccaagcttgatattcAggataaggatggggatactc	12	10	13	6	0	1	1	1	1	0	0	2	4	1	4	1	5	3	1	1	5	4	5			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr18:19424087A>T	ENST00000261537.6	+	15	2348	c.2084A>T	c.(2083-2085)cAg>cTg	p.Q695L	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	695					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTTGATATTCAGGATAAGGAT	0.433													7	63					0	0	0	0	T	19424087	A	T	19424087	3	4	236	1	0	0	0	0	1	0	0	0	9635	188	7	5	2142	5	MIB1	18	19424087	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08	10166916	19424087	58653161	107	43137											
WDR18	57418	broad.mit.edu	37	chr19	985937	985937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacccaatggtctctacGtcctggcaggagttgcagaa	10	9	10	12	1	2	1	1	0	1	1	4	2	3	2	2	3	2	3	2	3	3	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:985937G>A	ENST00000251289.5	+	2	306	c.283G>A	c.(283-285)Gtc>Atc	p.V95I	WDR18_ENST00000587001.2_Missense_Mutation_p.V95I|WDR18_ENST00000591997.1_3'UTR	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	95								p.V95I(1)		endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		TGGTCTCTACGTCCTGGCAGG	0.572													4	37					0	0	0	0	A	985937	G	A	985937	3	1	236	1	0	0	0	0	1	0	0	0	17374	1145	40	1	289	1	WDR18	19	985937	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08		985937	58143046	108	43138											
C19orf35	374872	broad.mit.edu	37	chr19	2276476	2276476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtggggcacgtccgcccCgggcttgggcacctgcaagg	4	5	18	14	4	0	0	0	0	0	0	1	0	1	0	4	6	1	4	4	6	1	1			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:2276476C>T	ENST00000342063.3	-	4	718	c.625G>A	c.(625-627)Ggg>Agg	p.G209R		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	209										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		ACGTCCGCCCCGGGCTTGGGC	0.701													5	11					0	0	0	0	T	2276476	C	T	2276476	3	4	236	1	0	0	0	0	1	0	0	0	1938	652	23	1	800	1	C19orf35	19	2276476	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	1290539	2276476	56852507	109	43139											
PEX11G	92960	broad.mit.edu	37	chr19	7550795	7550795	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagtcgcaagatggtccTgcagtggctgagttgggtgg	9	9	17	6	1	0	3	0	1	0	2	2	3	1	3	1	4	1	4	1	4	2	1			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:7550795T>A	ENST00000221480.1	-	2	186	c.178A>T	c.(178-180)Agg>Tgg	p.R60W	PEX11G_ENST00000593942.1_5'UTR	NM_080662.2	NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	60						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						AAGATGGTCCTGCAGTGGCTG	0.567													17	42					0	0	0	0	A	7550795	T	A	7550795	3	1	236	1	0	0	0	0	1	0	0	0	11811	1579	55	5	563	5	PEX11G	19	7550795	Missense_Mutation	SNP	T	TCGA-CV-5966-01A-11D-1683-08	5274319	7550795	51578188	110	43140											
EVI5L	115704	broad.mit.edu	37	chr19	7916349	7916349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagacctcaacacccacttCcgttcccaaagcttccacac	11	7	3	20	1	1	1	1	0	0	1	4	1	4	1	6	0	2	2	6	0	2	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:7916349C>T	ENST00000270530.4	+	7	979	c.783C>T	c.(781-783)ttC>ttT	p.F261F	EVI5L_ENST00000538904.2_Silent_p.F261F	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	261	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						ACACCCACTTCCGTTCCCAAA	0.647													11	68					0	0	0	0	T	7916349	C	T	7916349	2	4	236	1	0	0	0	0	0	0	0	1	5328	854	30	2		2	EVI5L	19	7916349	Silent	SNP	C	TCGA-CV-5966-01A-11D-1683-08	365554	7916349	51212634	111	43141											
ZNF737	100129842	broad.mit.edu	37	chr19	20728770	20728770	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaagatctcgggcaaaaTgagaacacgtaactgaaaga	18	5	10	8	2	1	4	0	2	1	3	2	5	1	4	1	1	2	2	1	1	6	1	rs61742876	by1000genomes	TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:20728770T>G	ENST00000427401.4	-	4	333	c.239A>C	c.(238-240)cAt>cCt	p.H80P		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	80					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCGGGCAAAATGAGAACACGT	0.323													4	19					0	0	0	0	G	20728770	T	G	20728770	3	3	236	1	0	0	0	0	1	0	0	0	18220	1464	51	5	1375	5	ZNF737	19	20728770	Missense_Mutation	SNP	T	TCGA-CV-5966-01A-11D-1683-08	12812421	20728770	38400213	112	43142											
RBM42	79171	broad.mit.edu	37	chr19	36124784	36124784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctggccatgccattgcccGagcctgagcccctgcccctc	4	7	9	21	1	0	1	0	1	0	0	1	2	0	1	9	1	5	0	9	1	0	1			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:36124784G>A	ENST00000262633.4	+	7	985	c.880G>A	c.(880-882)Gag>Aag	p.E294K	RBM42_ENST00000592202.1_Missense_Mutation_p.E240K|RBM42_ENST00000589871.1_Missense_Mutation_p.E272K|RBM42_ENST00000588161.1_Missense_Mutation_p.E264K|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000360475.4_Missense_Mutation_p.E265K|RBM42_ENST00000589559.1_Missense_Mutation_p.E265K	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	294	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCATTGCCCGAGCCTGAGCC	0.746													4	8					0	0	0	0	A	36124784	G	A	36124784	3	1	236	1	0	0	0	0	1	0	0	0	13218	1059	37	1	906	1	RBM42	19	36124784	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	15396014	36124784	23004199	113	43143											
ZNF527	84503	broad.mit.edu	37	chr19	37879538	37879538	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtacataaatttgatatttAtgataaactcttcccccaaa	16	14	3	8	0	1	2	0	2	1	0	2	2	2	2	2	0	2	1	2	0	8	8			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:37879538A>T	ENST00000436120.2	+	5	694	c.587A>T	c.(586-588)tAt>tTt	p.Y196F	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGATATTTATGATAAACTC	0.323													7	68					0	0	0	0	T	37879538	A	T	37879538	3	4	236	1	0	0	0	0	1	0	0	0	18063	449	16	5	601	5	ZNF527	19	37879538	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08	1754754	37879538	21249445	114	43144											
ZNF320	162967	broad.mit.edu	37	chr19	53384668	53384668	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctctccagtatgactTctatgatgacatgcaagggt	9	14	10	8	0	2	3	0	3	2	0	4	3	3	3	1	2	1	3	1	2	3	4			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:53384668T>A	ENST00000595635.1	-	8	1212	c.711A>T	c.(709-711)agA>agT	p.R237S	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R237S	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CAGTATGACTTCTATGATGAC	0.398													10	66					0	0	0	0	A	53384668	T	A	53384668	3	1	236	1	0	0	0	0	1	0	0	0	17934	1780	62	5	822	5	ZNF320	19	53384668	Missense_Mutation	SNP	T	TCGA-CV-5966-01A-11D-1683-08	15505130	53384668	5744315	115	43145											
ZSWIM3	140831	broad.mit.edu	37	chr20	44507028	44507028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccaaacacaggccagcctGagaagcaaggacggaacgac	15	2	11	13	2	0	1	0	1	0	1	1	5	1	3	3	3	4	1	3	3	4	0			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr20:44507028G>A	ENST00000255152.2	+	2	2040	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.E605K	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	611							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				AGGCCAGCCTGAGAAGCAAGG	0.587													18	80					0	0	0	0	A	44507028	G	A	44507028	3	1	236	1	0	0	0	0	1	0	0	0	18333	1291	45	2	1837	2	ZSWIM3	20	44507028	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08		44507028	18518492	116	43146											
SON	6651	broad.mit.edu	37	chr21	34932318	34932318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgaattgcagagaacagtGttatcacatccctacccaac	14	9	6	12	1	1	1	1	0	0	1	3	3	2	1	2	0	4	2	2	0	5	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr21:34932318G>A	ENST00000300278.4	+	7	6822	c.6793G>A	c.(6793-6795)Gtt>Att	p.V2265I	AP000304.2_ENST00000439593.1_RNA|SON_ENST00000290239.6_Intron|SON_ENST00000356577.4_Intron|SON_ENST00000381692.2_Intron	NM_032195.1	NP_115571.1	P18583	SON_HUMAN	SON DNA binding protein	0					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGAGAACAGTGTTATCACATC	0.458													17	31					0	0	0	0	A	34932318	G	A	34932318	3	1	236	1	0	0	0	0	1	0	0	0	15014	1377	48	4	6819	4	SON	21	34932318	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08		34932318	13197577	117	43147											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46011580	46011580	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgctggcagggggaggaGgtgcagcaagctggctggca	7	5	21	8	1	0	0	0	0	0	0	0	2	0	2	0	7	4	7	0	7	1	0			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr21:46011580G>T	ENST00000400368.1	-	1	806	c.786C>A	c.(784-786)acC>acA	p.T262T	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	262	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGGGGAGGAGGTGCAGCAAG	0.652													28	84					2.68265e-12	2.96405e-12	1	0	T	46011580	G	T	46011580	2	4	236	1	0	0	0	0	0	0	0	1	8565	987	35	4		4	KRTAP10-6	21	46011580	Silent	SNP	G	TCGA-CV-5966-01A-11D-1683-08	11079262	46011580	2118315	118	43148											
TPST2	8459	broad.mit.edu	37	chr22	26932363	26932363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgatctgggccatgtccCgcaccacatccccagggatg	7	6	13	15	2	1	0	0	0	1	0	3	2	3	1	5	3	0	1	5	3	0	0			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr22:26932363C>T	ENST00000338754.4	-	4	1202	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	TPST2_ENST00000403880.1_Missense_Mutation_p.R311Q|TPST2_ENST00000398110.2_Missense_Mutation_p.R311Q	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	311					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GGCCATGTCCCGCACCACATC	0.602													5	26					0	0	0	0	T	26932363	C	T	26932363	3	4	236	1	0	0	0	0	1	0	0	0	16523	652	23	1	213	1	TPST2	22	26932363	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08		26932363	24372203	119	43149											
SMTN	6525	broad.mit.edu	37	chr22	31492832	31492832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcacagccagcgggcagctGatggctctgctgtcagcact	7	7	14	13	1	2	1	1	1	1	0	2	1	2	1	1	3	5	6	1	3	0	0			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr22:31492832G>A	ENST00000333137.7	+	14	2193	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	SMTN_ENST00000404574.1_Intron|SMTN_ENST00000358743.1_Missense_Mutation_p.D659N|SMTN_ENST00000347557.2_Missense_Mutation_p.D659N	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	659					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCGGGCAGCTGATGGCTCTGC	0.687													19	55					0	0	0	0	A	31492832	G	A	31492832	3	1	236	1	0	0	0	0	1	0	0	0	14902	1290	45	2	2025	2	SMTN	22	31492832	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	4560469	31492832	19811734	120	43150											
CDKL5	6792	broad.mit.edu	37	chrX	18668577	18668577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcctcacactccgtgcGtcccaaaccgagcccttcat	10	7	7	17	3	2	1	2	0	0	1	4	2	4	1	5	0	4	0	5	0	2	1			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:18668577G>A	ENST00000379989.3	+	21	3130	c.2845G>A	c.(2845-2847)Gtc>Atc	p.V949I	RS1_ENST00000476595.1_5'UTR|RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.V949I	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	949					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CACTCCGTGCGTCCCAAACCG	0.582													23	59					0	0	0	0	A	18668577	G	A	18668577	3	1	236	1	0	0	0	0	1	0	0	0	3186	1145	40	1	2919	1	CDKL5	23	18668577	Missense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08		18668577	136601983	121	43151											
PJA1	64219	broad.mit.edu	37	chrX	68381831	68381831	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcactagcaccggggccAgggctggtgccagtgctggc	5	6	17	13	1	0	0	0	0	0	0	0	0	0	0	3	6	3	4	3	6	1	1			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:68381831A>C	ENST00000361478.1	-	2	1628	c.1251T>G	c.(1249-1251)ccT>ccG	p.P417P	PJA1_ENST00000374571.4_Silent_p.P362P|PJA1_ENST00000374583.1_Silent_p.P417P|PJA1_ENST00000374584.3_Silent_p.P229P	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	417							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CACCGGGGCCAGGGCTGGTGC	0.622													8	55					0	0	0	0	C	68381831	A	C	68381831	2	2	236	1	0	0	0	0	0	0	0	1	12033	175	7	5		5	PJA1	23	68381831	Silent	SNP	A	TCGA-CV-5966-01A-11D-1683-08	49713254	68381831	86888729	122	43152											
ARL13A	392509	broad.mit.edu	37	chrX	100240775	100240775	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggccgggaagcatggccaAactactatgcacaggcccat	12	5	12	12	1	0	0	0	0	0	0	0	1	0	1	3	4	4	2	3	4	4	2			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:100240775A>T	ENST00000450049.2	+	4	363	c.250A>T	c.(250-252)Aac>Tac	p.N84Y		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	84							GTP binding			endometrium(1)|ovary(1)	2						AGCATGGCCAAACTACTATGC	0.468													15	23					0	0	0	0	T	100240775	A	T	100240775	3	4	236	1	0	0	0	0	1	0	0	0	930	14	1	5	260	5	ARL13A	23	100240775	Missense_Mutation	SNP	A	TCGA-CV-5966-01A-11D-1683-08	31858944	100240775	55029785	123	43153											
IRS4	8471	broad.mit.edu	37	chrX	107979062	107979062	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgaagtattcgtcttgggtGaaaagagcaatgaggtgtcg	11	10	15	5	3	1	3	0	2	1	1	3	4	1	3	0	2	1	2	0	2	5	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:107979062G>A	ENST00000372129.2	-	1	589	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	171	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CGTCTTGGGTGAAAAGAGCAA	0.597													7	55					0	0	0	0	A	107979062	G	A	107979062	2	1	236	1	0	0	0	0	0	0	0	1	7895	1281	45	2		2	IRS4	23	107979062	Silent	SNP	G	TCGA-CV-5966-01A-11D-1683-08	7738287	107979062	47291498	124	43154											
DOCK11	139818	broad.mit.edu	37	chrX	117775197	117775197	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccaccaggcacttcttGaaggcaatacagctactgaa	12	11	7	11	0	1	2	0	2	1	0	2	2	2	2	2	2	3	3	2	2	5	6			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:117775197G>T	ENST00000276204.6	+	39	4263	c.4189G>T	c.(4189-4191)Gaa>Taa	p.E1397*	DOCK11_ENST00000276202.7_Nonsense_Mutation_p.E1397*			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1397					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GGCACTTCTTGAAGGCAATAC	0.368													20	62					1.1804e-14	1.3134e-14	1	0	T	117775197	G	T	117775197	4	4	236	1	0	0	0	0	0	1	0	0	4722	1291	45	2	4343	2	DOCK11	23	117775197	Nonsense_Mutation	SNP	G	TCGA-CV-5966-01A-11D-1683-08	9796135	117775197	37495363	125	43155											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959641	117959641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaagctcaaggggagaaagCctccctttatgtgatccgtt	11	10	10	10	1	1	2	1	1	0	1	3	3	3	2	3	2	2	2	3	2	4	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:117959641C>T	ENST00000310164.2	+	4	941	c.434C>T	c.(433-435)gCc>gTc	p.A145V		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ggggagaaagcctccctttat	0.483													35	110					0	0	0	0	T	117959641	C	T	117959641	3	4	236	1	0	0	0	0	1	0	0	0	17676	739	26	4	436	4	ZCCHC12	23	117959641	Missense_Mutation	SNP	C	TCGA-CV-5966-01A-11D-1683-08	184444	117959641	37310919	126	43156											
MCF2	4168	broad.mit.edu	37	chrX	138724625	138724625	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagtgcagacagagcccttAccgcattccttctgaacctc	9	9	9	14	1	1	3	0	1	1	2	3	4	2	4	4	1	4	2	4	1	2	3			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:138724625A>T	ENST00000370576.4	-	1	261		c.e1+1		MCF2_ENST00000414978.1_Intron|MCF2_ENST00000370573.4_Splice_Site|MCF2_ENST00000338585.6_Splice_Site|MCF2_ENST00000370578.4_Intron|MCF2_ENST00000536274.1_Splice_Site|MCF2_ENST00000519895.1_Intron|MCF2_ENST00000520602.1_Intron	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CAGAGCCCTTACCGCATTCCT	0.488													32	154					0	0	0	0	T	138724625	A	T	138724625	5	4	236	1	0	0	0	0	0	0	1	0	9447	405	14	5	2904	5	MCF2	23	138724625	Splice_Site	SNP	A	TCGA-CV-5966-01A-11D-1683-08	20764984	138724625	16545935	127	43157											
SLC45A1	50651	broad.mit.edu	37	chr1	8390837	8390837	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagggtgccctgacctcCggctgtgacggggacattct	7	8	15	11	2	1	3	0	2	1	1	2	5	2	4	3	4	1	1	3	4	0	1	rs149921947	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:8390837C>T	ENST00000471889.1	+	5	1669	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	SLC45A1_ENST00000377479.2_Silent_p.S462S|SLC45A1_ENST00000289877.8_Silent_p.S428S|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	428					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGACCTCCGGCTGTGACG	0.657													12	82					0	0	0	0	T	8390837	C	T	8390837	2	4	237	1	0	0	0	0	0	0	0	1	14728	639	23	1		1	SLC45A1	1	8390837	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08		8390837	240859784	1	43158											
TARDBP	23435	broad.mit.edu	37	chr1	11080498	11080498	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatcagcaaagccaagatGagcctttgagaagcagaaaa	17	7	10	7	0	1	5	1	3	0	3	1	6	1	5	2	0	4	2	2	0	5	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:11080498G>C	ENST00000240185.3	+	5	670	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	TARDBP_ENST00000439080.2_Missense_Mutation_p.E70Q|TARDBP_ENST00000315091.3_Missense_Mutation_p.E186Q	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	186	RRM 1.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E186K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AAGCCAAGATGAGCCTTTGAG	0.398													11	74					0	0	0	0	C	11080498	G	C	11080498	3	2	237	1	0	0	0	0	1	0	0	0	15648	1291	45	2	570	2	TARDBP	1	11080498	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	2689661	11080498	238170123	2	43159											
PINK1	65018	broad.mit.edu	37	chr1	20975048	20975048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggctgctgcctggctgatGagagcatcggcctgcagttg	5	11	15	10	1	0	2	0	2	0	1	1	3	0	2	2	3	4	6	2	3	0	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:20975048G>A	ENST00000321556.4	+	6	1268	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	392	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTGGCTGATGAGAGCATCGG	0.612													3	29					0	0	0	0	A	20975048	G	A	20975048	3	1	237	1	0	0	0	0	1	0	0	0	12004	1291	45	2	1196	2	PINK1	1	20975048	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	9894550	20975048	228275573	3	43160											
HP1BP3	50809	broad.mit.edu	37	chr1	21103166	21103166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctttggctgctctgcctCactcgaagtagcaggtggag	6	10	12	13	1	2	0	1	0	1	0	3	2	2	1	3	3	3	4	3	3	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:21103166C>T	ENST00000312239.5	-	4	413	c.274G>A	c.(274-276)Gag>Aag	p.E92K	HP1BP3_ENST00000487117.1_5'UTR|HP1BP3_ENST00000375000.1_Missense_Mutation_p.E92K	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	92					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TGCTCTGCCTCACTCGAAGTA	0.423													21	102					0	0	0	0	T	21103166	C	T	21103166	3	4	237	1	0	0	0	0	1	0	0	0	7378	835	29	2	1427	2	HP1BP3	1	21103166	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	128118	21103166	228147455	4	43161											
SRRM1	10250	broad.mit.edu	37	chr1	24978971	24978971	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctataccagagcctaaaGaaccttctccggaaaaaaat	18	7	5	11	1	1	2	0	0	1	2	2	3	1	3	5	1	4	0	5	1	9	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:24978971G>C	ENST00000323848.9	+	7	1087	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Missense_Mutation_p.E127Q|SRRM1_ENST00000447431.2_Missense_Mutation_p.E258Q|SRRM1_ENST00000374389.4_Missense_Mutation_p.E258Q	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	258	Arg-rich.|Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AGAGCCTAAAGAACCTTCTCC	0.443													3	25					0	0	0	0	C	24978971	G	C	24978971	3	2	237	1	0	0	0	0	1	0	0	0	15258	943	33	2	798	2	SRRM1	1	24978971	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	3875805	24978971	224271650	5	43162											
TIE1	7075	broad.mit.edu	37	chr1	43778831	43778831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccccccgacacctccaCgcccaggccctctcagactc	7	4	6	24	2	1	1	1	0	1	1	4	2	2	1	8	1	1	0	8	1	0	0			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:43778831C>T	ENST00000372476.3	+	13	2032	c.1953C>T	c.(1951-1953)caC>caT	p.H651H	TIE1_ENST00000433781.2_Silent_p.H296H	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	651	Fibronectin type-III 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACACCTCCACGCCCAGGCCC	0.637													6	45					0	0	0	0	T	43778831	C	T	43778831	2	4	237	1	0	0	0	0	0	0	0	1	15987	535	19	1		1	TIE1	1	43778831	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	18799860	43778831	205471790	6	43163											
ST3GAL3	6487	broad.mit.edu	37	chr1	44303969	44303969	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgcttcagccttgatgacGgccatcttcccccggtaagt	7	12	9	13	2	2	2	1	2	1	0	3	2	3	2	4	2	2	2	4	2	2	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:44303969G>A	ENST00000262915.3	+	6	672	c.495G>A	c.(493-495)acG>acA	p.T165T	ST3GAL3_ENST00000372377.4_Silent_p.T96T|ST3GAL3_ENST00000347631.2_Silent_p.T111T|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000361746.4_Silent_p.T165T|ST3GAL3_ENST00000545417.1_Silent_p.T111T|ST3GAL3_ENST00000372365.1_Silent_p.T96T|ST3GAL3_ENST00000372375.2_Silent_p.T150T|ST3GAL3_ENST00000351035.3_Silent_p.T134T|ST3GAL3_ENST00000335430.6_Silent_p.T80T|ST3GAL3_ENST00000372362.2_Silent_p.T96T|ST3GAL3_ENST00000372366.1_Silent_p.T95T|ST3GAL3_ENST00000372367.1_Silent_p.T95T|ST3GAL3_ENST00000372368.2_Silent_p.T150T|ST3GAL3_ENST00000361812.4_Silent_p.T111T|ST3GAL3_ENST00000372372.2_Silent_p.T134T|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000361392.4_Silent_p.T96T|ST3GAL3_ENST00000533933.1_Silent_p.T96T|ST3GAL3_ENST00000531993.1_Silent_p.T80T|ST3GAL3_ENST00000531816.1_Silent_p.T80T|ST3GAL3_ENST00000330208.2_Silent_p.T96T|ST3GAL3_ENST00000531451.1_Silent_p.T80T|ST3GAL3_ENST00000361400.4_Silent_p.T80T|ST3GAL3_ENST00000528371.1_Silent_p.T80T|ST3GAL3_ENST00000353126.3_Silent_p.T96T|ST3GAL3_ENST00000372369.1_Silent_p.T96T	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	96					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCTTGATGACGGCCATCTTCC	0.542													28	170					0	0	0	0	A	44303969	G	A	44303969	2	1	237	1	0	0	0	0	0	0	0	1	15306	1103	39	1		1	ST3GAL3	1	44303969	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	525138	44303969	204946652	7	43164											
CDCP2	200008	broad.mit.edu	37	chr1	54610233	54610233	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggaggtgaagggcggCgggggcaccttgccgcagaa	9	3	20	9	3	0	2	0	1	0	1	0	4	0	4	2	7	1	2	2	7	2	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:54610233C>G	ENST00000371330.1	-	2	1180	c.333G>C	c.(331-333)ccG>ccC	p.P111P	RP11-446E24.4_ENST00000525949.1_Intron|RP11-446E24.4_ENST00000311841.7_3'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	111	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						TGAAGGGCGGCGGGGGCACCT	0.587													9	33					0	0	0	0	G	54610233	C	G	54610233	2	3	237	1	0	0	0	0	0	0	0	1	3123	755	27	3		3	CDCP2	1	54610233	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	10306264	54610233	194640388	8	43165											
LRRC40	55631	broad.mit.edu	37	chr1	70618219	70618219	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaaccatttccttcagttCtaccatcctgaaacaaaaat	16	11	3	11	0	2	2	1	1	1	1	4	2	4	2	4	0	3	1	4	0	5	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:70618219C>G	ENST00000370952.3	-	12	1415	c.1336G>C	c.(1336-1338)Gaa>Caa	p.E446Q		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	446										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TCCTTCAGTTCTACCATCCTG	0.323													7	35					0	0	0	0	G	70618219	C	G	70618219	3	3	237	1	0	0	0	0	1	0	0	0	9062	922	32	2	488	2	LRRC40	1	70618219	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	16007986	70618219	178632402	9	43166											
AK5	26289	broad.mit.edu	37	chr1	77806120	77806120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatcagagactcaaagaaaGattactgaagcgtgcagaac	18	7	9	7	1	2	5	2	1	0	4	2	6	2	5	0	0	4	1	0	0	6	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:77806120G>C	ENST00000344720.5	+	6	1706	c.680G>C	c.(679-681)aGa>aCa	p.R227T	AK5_ENST00000354567.2_Missense_Mutation_p.R253T	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	253					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CTCAAAGAAAGATTACTGAAG	0.458													11	80					0	0	0	0	C	77806120	G	C	77806120	3	2	237	1	0	0	0	0	1	0	0	0	443	942	33	2	780	2	AK5	1	77806120	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	7187901	77806120	171444501	10	43167											
HSD3B2	3284	broad.mit.edu	37	chr1	119964589	119964589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatggcccactccatacccGtacagcaaaaagcttgctga	13	7	7	14	1	0	1	0	1	0	0	1	1	1	1	3	1	5	4	3	1	4	3	rs114527791	by1000genomes	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:119964589G>A	ENST00000543831.1	+	4	714	c.465G>A	c.(463-465)ccG>ccA	p.P155P	HSD3B2_ENST00000369416.3_Silent_p.P155P	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	155			P -> L (in AH2; nonsalt-wasting form).		androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CTCCATACCCGTACAGCAAAA	0.498													21	74					0	0	0	0	A	119964589	G	A	119964589	2	1	237	1	0	0	0	0	0	0	0	1	7441	1132	40	1		1	HSD3B2	1	119964589	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	42158469	119964589	129286032	11	43168											
ANKRD34A	284615	broad.mit.edu	37	chr1	145473612	145473612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggggcgccgcggtggcctCgctgctccttgcccacggcg	1	7	17	16	6	0	0	0	0	0	0	2	0	1	0	4	5	2	2	4	5	0	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:145473612C>T	ENST00000323397.4	+	4	1577	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	95										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGGTGGCCTCGCTGCTCCTT	0.721													9	47					0	0	0	0	T	145473612	C	T	145473612	3	4	237	1	0	0	0	0	1	0	0	0	661	893	31	1	286	1	ANKRD34A	1	145473612	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	25509023	145473612	103777009	12	43169											
ANKRD34A	284615	broad.mit.edu	37	chr1	145473671	145473671	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcacgcgggcgcctcggctCttgtccacgccctggaccgc	4	7	12	18	6	2	0	1	0	1	0	4	1	3	1	4	3	0	1	4	3	0	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:145473671C>G	ENST00000323397.4	+	4	1636	c.343C>G	c.(343-345)Ctt>Gtt	p.L115V		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	115										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGCCTCGGCTCTTGTCCACGC	0.701													8	38					0	0	0	0	G	145473671	C	G	145473671	3	3	237	1	0	0	0	0	1	0	0	0	661	913	32	2	345	2	ANKRD34A	1	145473671	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	59	145473671	103776950	13	43170											
MUC1	4582	broad.mit.edu	37	chr1	155160217	155160217	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgctgacgtctgagatcgtCaggttatatcgagaggctgc	8	10	13	10	4	2	3	1	2	1	2	4	5	2	3	1	2	1	3	1	2	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:155160217C>T	ENST00000368395.1	-	5	1133	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	MUC1_ENST00000438413.1_Silent_p.L108L|MUC1_ENST00000368390.3_Silent_p.L134L|MUC1_ENST00000368392.3_Silent_p.L143L|MUC1_ENST00000368393.3_Silent_p.L152L|MUC1_ENST00000337604.5_Silent_p.L152L|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368398.3_Silent_p.L109L|MUC1_ENST00000457295.2_Silent_p.L143L|MUC1_ENST00000338684.5_Silent_p.L103L|MUC1_ENST00000342482.4_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1134	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGAGATCGTCAGGTTATATC	0.552			T	IGH@	B-NHL								7	23					0	0	0	0	T	155160217	C	T	155160217	2	4	237	1	0	0	0	0	0	0	0	1	10040	813	29	2		2	MUC1	1	155160217	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	9686546	155160217	94090404	14	43171											
CRB1	23418	broad.mit.edu	37	chr1	197396601	197396601	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagagtatgtggcaggcagaTttggccaggatgactccact	11	9	13	8	0	0	3	0	1	0	2	1	4	1	4	2	4	0	3	2	4	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:197396601T>C	ENST00000367397.1	+	3	1147	c.289T>C	c.(289-291)Ttt>Ctt	p.F97L	CRB1_ENST00000535699.1_Missense_Mutation_p.F647L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.F604L|CRB1_ENST00000367400.3_Missense_Mutation_p.F716L|CRB1_ENST00000544212.1_Missense_Mutation_p.F197L			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	716	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGCAGGCAGATTTGGCCAGGA	0.433													5	31					0	0	0	0	C	197396601	T	C	197396601	3	2	237	1	0	0	0	0	1	0	0	0	3878	1493	52	5	2172	5	CRB1	1	197396601	Missense_Mutation	SNP	T	TCGA-CV-5970-01A-11D-1683-08	42236384	197396601	51854020	15	43172											
PIK3C2B	5287	broad.mit.edu	37	chr1	204408140	204408140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccttgaacgagccggtcaCcccatgctccacctggatct	7	9	9	16	2	2	1	1	1	1	0	4	3	4	2	6	2	3	1	6	2	1	1	rs75201325		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:204408140C>T	ENST00000367187.3	-	24	3995	c.3439G>A	c.(3439-3441)Gtg>Atg	p.V1147M	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.V1119M	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1147	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGCCGGTCACCCCATGCTCC	0.592													9	19					0	0	0	0	T	204408140	C	T	204408140	3	4	237	1	0	0	0	0	1	0	0	0	11982	507	18	4	1509	4	PIK3C2B	1	204408140	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	7011539	204408140	44842481	16	43173											
TARBP1	6894	broad.mit.edu	37	chr1	234565343	234565358	+	Frame_Shift_Del	DEL	GAGAGGCACACCCATT	GAGAGGCACACCCATT	-																															gatattttttcaacaggaaaGagaggcacacccattgatca																										TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:234565343_234565358delGAGAGGCACACCCATT	ENST00000040877.1	-	16	2674_2689	c.2675_2690delAATGGGTGTGCCTCTC	c.(2674-2691)ctfs	p.QWVCLS892fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	892					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.W893*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CAACAGGAAAGAGAGGCACACCCATTGATCATGAAT	0.398													7	73	---	---	---	---					-	234565358	GAGAGGCACACCCATT	-	234565343	7	5	237	1	0	1	0	1	0	0	0	0	15646	942	33	0	2235	0	TARBP1	1	234565343	Frame_Shift_Del	DEL	GAGAGGCACACCCATT	TCGA-CV-5970-01A-11D-1683-08	30157203	234565343	14685278	17	43174											
NID1	4811	broad.mit.edu	37	chr1	236189239	236189239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagagcatagcgcaagatCttctcctcctggttgtacag	9	11	10	11	1	2	2	0	1	2	2	4	3	3	2	2	1	3	4	2	1	3	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:236189239C>A	ENST00000264187.6	-	8	2023	c.1941G>T	c.(1939-1941)aaG>aaT	p.K647N	NID1_ENST00000366595.3_Missense_Mutation_p.K647N	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	647	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGCGCAAGATCTTCTCCTCCT	0.577													39	174					5.59293e-11	6.07472e-11	1	0	A	236189239	C	A	236189239	3	1	237	1	0	0	0	0	1	0	0	0	10484	912	32	2	1854	2	NID1	1	236189239	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	1623896	236189239	13061382	18	43175											
ASXL2	55252	broad.mit.edu	37	chr2	25978930	25978930	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgggctgctgaagtgaaGaattcattgttaagggctga	10	12	13	6	0	1	4	1	3	0	1	1	4	1	4	1	2	1	4	1	2	4	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:25978930G>A	ENST00000435504.4	-	10	1286	c.993C>T	c.(991-993)ttC>ttT	p.F331F	ASXL2_ENST00000336112.4_Silent_p.F303F|ASXL2_ENST00000404843.1_Silent_p.F71F|ASXL2_ENST00000272341.4_Silent_p.F71F			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.F71L(1)|p.F331L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAAGTGAAGAATTCATTGT	0.453													12	76					0	0	0	0	A	25978930	G	A	25978930	2	1	237	1	0	0	0	0	0	0	0	1	1071	933	33	2		2	ASXL2	2	25978930	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08		25978930	217220443	19	43176											
CENPA	1058	broad.mit.edu	37	chr2	27015013	27015013	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcaggcgcttcctcccatCaacacagtcggcggagacaa	10	6	10	15	3	2	1	2	0	0	1	5	2	4	1	2	3	1	2	2	3	2	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:27015013C>T	ENST00000335756.4	+	2	315	c.115C>T	c.(115-117)Caa>Taa	p.Q39*	CENPA_ENST00000233505.8_Nonsense_Mutation_p.Q39*|CENPA_ENST00000475662.1_3'UTR	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	39					CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCTCCCATCAACACAGTCG	0.512													7	16					0	0	0	0	T	27015013	C	T	27015013	4	4	237	1	0	0	0	0	0	1	0	0	3255	827	29	2	121	2	CENPA	2	27015013	Nonsense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	1036083	27015013	216184360	20	43177											
CAD	790	broad.mit.edu	37	chr2	27463149	27463149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacacctgaaagaccccGccgtggcatcccagggcttc	9	5	10	17	2	0	3	0	1	0	2	2	3	1	3	6	2	0	2	6	2	1	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:27463149G>A	ENST00000264705.4	+	35	5675	c.5513G>A	c.(5512-5514)cGc>cAc	p.R1838H	CAD_ENST00000403525.1_Missense_Mutation_p.R1775H	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1838	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GAAAGACCCCGCCGTGGCATC	0.567													15	112					0	0	0	0	A	27463149	G	A	27463149	3	1	237	1	0	0	0	0	1	0	0	0	2590	1087	38	1	5651	1	CAD	2	27463149	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	448136	27463149	215736224	21	43178											
SLC30A3	7781	broad.mit.edu	37	chr2	27480162	27480162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctccagcggtgcatactCtgctcccctagacccgtggc	5	9	9	18	2	1	1	0	0	1	1	4	1	4	1	5	2	4	2	5	2	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:27480162C>T	ENST00000233535.4	-	5	989	c.637G>A	c.(637-639)Gag>Aag	p.E213K	SLC30A3_ENST00000447008.2_Missense_Mutation_p.E208K	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	213					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCATACTCTGCTCCCCTA	0.672													8	17					0	0	0	0	T	27480162	C	T	27480162	3	4	237	1	0	0	0	0	1	0	0	0	14644	922	32	2	545	2	SLC30A3	2	27480162	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	17013	27480162	215719211	22	43179											
STRN	6801	broad.mit.edu	37	chr2	37078179	37078179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatttgatgtgcctgtcttCatgagcagtgatgctgatcg	8	14	12	7	1	2	4	1	4	1	0	3	5	2	4	1	0	3	2	1	0	1	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:37078179C>T	ENST00000263918.4	-	16	2058	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K	STRN_ENST00000379213.2_Missense_Mutation_p.E635K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	684					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGCCTGTCTTCATGAGCAGTG	0.328													14	64					0	0	0	0	T	37078179	C	T	37078179	3	4	237	1	0	0	0	0	1	0	0	0	15419	835	29	2	304	2	STRN	2	37078179	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	9598017	37078179	206121194	23	43180											
SLC8A1	6546	broad.mit.edu	37	chr2	40656665	40656665	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaacagaagtctcctatcCgctacccaagcgaacacaac	16	6	5	14	2	1	1	0	0	1	1	3	2	2	1	3	0	5	1	3	0	8	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:40656665C>G	ENST00000406785.1	-	2	945	c.756G>C	c.(754-756)gcG>gcC	p.A252A	SLC8A1_ENST00000406391.2_Silent_p.A252A|SLC8A1_ENST00000403092.1_Silent_p.A252A|SLC8A1_ENST00000542756.1_Silent_p.A252A|SLC8A1_ENST00000542024.1_Silent_p.A252A|SLC8A1_ENST00000332839.4_Silent_p.A252A|SLC8A1_ENST00000405901.3_Silent_p.A252A|SLC8A1_ENST00000408028.2_Silent_p.A252A|SLC8A1_ENST00000402441.1_Silent_p.A252A|SLC8A1_ENST00000405269.1_Silent_p.A252A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	252					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	GTCTCCTATCCGCTACCCAAG	0.443													18	107					0	0	0	0	G	40656665	C	G	40656665	2	3	237	1	0	0	0	0	0	0	0	1	14794	639	23	3		3	SLC8A1	2	40656665	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	3578486	40656665	202542708	24	43181											
ATP6V1E2	90423	broad.mit.edu	37	chr2	46739793	46739793	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctcattggcttcctgctCaatgaaagccatcatgtgct	8	15	7	11	0	3	1	3	1	1	0	5	1	4	1	2	1	3	3	2	1	2	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:46739793C>G	ENST00000306448.4	-	2	1171	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E20Q	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	20					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCTTCCTGCTCAATGAAAGCC	0.507													10	53					0	0	0	0	G	46739793	C	G	46739793	3	3	237	1	0	0	0	0	1	0	0	0	1188	835	29	2	626	2	ATP6V1E2	2	46739793	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	6083128	46739793	196459580	25	43182											
MSH2	4436	broad.mit.edu	37	chr2	47656948	47656948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttacaagaagatttacttCgtcgattcccagatcttaac	12	14	5	10	2	1	3	0	0	1	3	4	4	2	3	1	0	3	0	1	0	5	7			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:47656948C>T	ENST00000406134.1	+	7	1206	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	MSH2_ENST00000233146.2_Missense_Mutation_p.R382C|MSH2_ENST00000543555.1_Missense_Mutation_p.R316C			P43246	MSH2_HUMAN	mutS homolog 2	382					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATTTACTTCGTCGATTCCC	0.343			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				10	44					0	0	0	0	T	47656948	C	T	47656948	3	4	237	1	0	0	0	0	1	0	0	0	9940	884	31	1	1170	1	MSH2	2	47656948	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	917155	47656948	195542425	26	43183											
LRRTM1	347730	broad.mit.edu	37	chr2	80530153	80530153	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtactcgatctcgttgccCgacaagtccattttctccag	8	13	7	13	3	2	0	0	0	2	0	6	2	3	0	3	0	2	2	3	0	2	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:80530153C>G	ENST00000295057.3	-	2	1448	c.792G>C	c.(790-792)tcG>tcC	p.S264S	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S264S|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	264						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TCTCGTTGCCCGACAAGTCCA	0.607										HNSCC(69;0.2)			8	44					0	0	0	0	G	80530153	C	G	80530153	2	3	237	1	0	0	0	0	0	0	0	1	9103	639	23	3		3	LRRTM1	2	80530153	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	32873205	80530153	162669220	27	43184											
LRRTM1	347730	broad.mit.edu	37	chr2	80530267	80530267	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaggcgcgggaagtgggcGaagttcaccttgaccaagtc	10	7	15	9	3	1	2	1	2	0	0	2	4	1	3	2	3	0	1	2	3	3	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:80530267G>A	ENST00000295057.3	-	2	1334	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.F226F|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	226						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGAAGTGGGCGAAGTTCACCT	0.582										HNSCC(69;0.2)			17	87					0	0	0	0	A	80530267	G	A	80530267	2	1	237	1	0	0	0	0	0	0	0	1	9103	1049	37	1		1	LRRTM1	2	80530267	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	114	80530267	162669106	28	43185											
KYNU	8942	broad.mit.edu	37	chr2	143798151	143798151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgtctcatgtagaggagcGggggtgccagctaacaataa	11	8	13	9	2	1	1	1	0	1	1	3	2	2	2	2	3	4	2	2	3	4	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:143798151G>A	ENST00000264170.4	+	13	1454	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	KYNU_ENST00000409512.1_Missense_Mutation_p.R399Q	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	399					anthranilate metabolic process|NAD biosynthetic 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)	GTAGAGGAGCGGGGGTGCCAG	0.408													9	48					0	0	0	0	A	143798151	G	A	143798151	3	1	237	1	0	0	0	0	1	0	0	0	8640	1116	39	1	1268	1	KYNU	2	143798151	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	63267884	143798151	99401222	29	43186											
RIF1	55183	broad.mit.edu	37	chr2	152293769	152293769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttcagagccattggaacatCcgttaatcagcagcccttcc	10	11	7	13	1	2	1	2	0	0	1	4	2	4	2	4	1	4	2	4	1	2	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:152293769C>T	ENST00000243326.4	+	12	1870	c.1387C>T	c.(1387-1389)Ccg>Tcg	p.P463S	RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000453091.2_Missense_Mutation_p.P463S|RIF1_ENST00000430328.2_Missense_Mutation_p.P463S|RIF1_ENST00000428287.2_Missense_Mutation_p.P463S|RIF1_ENST00000444746.2_Missense_Mutation_p.P463S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	463					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTGGAACATCCGTTAATCAG	0.338													11	52					0	0	0	0	T	152293769	C	T	152293769	3	4	237	1	0	0	0	0	1	0	0	0	13442	855	30	2	1433	2	RIF1	2	152293769	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	8495618	152293769	90905604	30	43187											
PLA2R1	22925	broad.mit.edu	37	chr2	160801458	160801458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccttttttttcttgacacGgggatagctgccataatcct	8	15	8	10	1	1	1	0	1	1	0	2	2	2	2	3	2	3	1	3	2	2	7			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:160801458G>A	ENST00000283243.7	-	28	4309	c.4103C>T	c.(4102-4104)cCg>cTg	p.P1368L	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1368	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTCTTGACACGGGGATAGCTG	0.428													12	92					0	0	0	0	A	160801458	G	A	160801458	3	1	237	1	0	0	0	0	1	0	0	0	12082	1116	39	1	300	1	PLA2R1	2	160801458	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	8507689	160801458	82397915	31	43188											
SCN1A	6323	broad.mit.edu	37	chr2	166856246	166856246	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacttacatttctggaatcaActgctgcatacattatatcc	12	15	4	10	0	2	0	1	0	1	0	3	1	3	1	1	1	6	2	1	1	7	6			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:166856246A>G	ENST00000423058.2	-	22	4342	c.4325T>C	c.(4324-4326)gTt>gCt	p.V1442A	SCN1A_ENST00000303395.4_Missense_Mutation_p.V1442A|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1431A|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1414A|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1442						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTGGAATCAACTGCTGCATA	0.308													12	84					0	0	0	0	G	166856246	A	G	166856246	3	3	237	1	0	0	0	0	1	0	0	0	14001	43	2	5	1724	5	SCN1A	2	166856246	Missense_Mutation	SNP	A	TCGA-CV-5970-01A-11D-1683-08	6054788	166856246	76343127	32	43189											
LRP2	4036	broad.mit.edu	37	chr2	170101321	170101321	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggcaggaagcaggtgcGtgggtggggcagttgtgctc	7	8	19	7	1	1	0	1	0	0	0	2	1	1	1	0	6	3	5	0	6	2	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:170101321G>A	ENST00000263816.3	-	22	3597	c.3312C>T	c.(3310-3312)caC>caT	p.H1104H	LRP2_ENST00000443831.1_Silent_p.H967H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1104					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGCAGGTGCGTGGGTGGGGC	0.537													16	97					0	0	0	0	A	170101321	G	A	170101321	2	1	237	1	0	0	0	0	0	0	0	1	9020	1136	40	1		1	LRP2	2	170101321	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	3245075	170101321	73098052	33	43190											
HAT1	8520	broad.mit.edu	37	chr2	172809472	172809472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcctgtcaacaatgttcCgtgttgaatatgcatctaaa	12	13	8	8	1	2	1	1	1	1	0	3	1	3	1	2	0	3	4	2	0	7	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:172809472C>T	ENST00000264108.4	+	4	298	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.R3C	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	88					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AACAATGTTCCGTGTTGAATA	0.313													10	45					0	0	0	0	T	172809472	C	T	172809472	3	4	237	1	0	0	0	0	1	0	0	0	7014	652	23	1	276	1	HAT1	2	172809472	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	2708151	172809472	70389901	34	43191											
TTN	7273	broad.mit.edu	37	chr2	179403830	179403830	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagtcttgttgtgtctgacCcacttgtcagtggatgtctc	5	16	11	9	0	4	2	1	2	3	0	5	3	4	3	1	1	0	1	1	1	0	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:179403830C>G	ENST00000589042.1	-	353	99056	c.98832G>C	c.(98830-98832)tgG>tgC	p.W32944C	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W31303C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W23879C|TTN_ENST00000342992.6_Missense_Mutation_p.W30376C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W24071C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W24004C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31303							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)			TGTGTCTGACCCACTTGTCAG	0.498													9	57					0	0	0	0	G	179403830	C	G	179403830	3	3	237	1	0	0	0	0	1	0	0	0	16831	624	22	4	9187	4	TTN	2	179403830	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	6594358	179403830	63795543	35	43192											
TTN	7273	broad.mit.edu	37	chr2	179424911	179424911	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatggaggagatggtaggaAcactggatcttctgccctaa	11	9	14	7	0	2	1	0	0	2	1	2	6	2	5	1	6	2	1	1	6	3	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:179424911A>G	ENST00000589042.1	-	326	86172	c.85948T>C	c.(85948-85950)Ttc>Ctc	p.F28650L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F27009L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F19585L|TTN_ENST00000342992.6_Missense_Mutation_p.F26082L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F19777L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F19710L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27009	Fibronectin type-III 108.						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)			GATGGTAGGAACACTGGATCT	0.463													17	65					0	0	0	0	G	179424911	A	G	179424911	3	3	237	1	0	0	0	0	1	0	0	0	16831	43	2	5	22179	5	TTN	2	179424911	Missense_Mutation	SNP	A	TCGA-CV-5970-01A-11D-1683-08	21081	179424911	63774462	36	43193											
DNAH7	56171	broad.mit.edu	37	chr2	196891589	196891589	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggaactaaatccagtaCgtgttctagccaagaatctt	12	13	8	8	1	2	1	0	0	2	1	3	2	3	2	2	1	3	2	2	1	7	6			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:196891589C>G	ENST00000312428.6	-	7	662	c.562G>C	c.(562-564)Gta>Cta	p.V188L	DNAH7_ENST00000410072.1_Missense_Mutation_p.V188L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	188	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAATCCAGTACGTGTTCTAGC	0.353													3	42					0	0	0	0	G	196891589	C	G	196891589	3	3	237	1	0	0	0	0	1	0	0	0	4642	536	19	3	11748	3	DNAH7	2	196891589	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	17466678	196891589	46307784	37	43194											
PSMD1	5707	broad.mit.edu	37	chr2	231947609	231947609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccttagatcgttagacacGgtggcagtctgggccttggt	6	13	13	9	2	1	2	0	0	1	2	3	2	2	2	2	4	0	2	2	4	2	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:231947609G>A	ENST00000308696.6	+	13	1588	c.1426G>A	c.(1426-1428)Ggt>Agt	p.G476S	PSMD1_ENST00000409643.1_Missense_Mutation_p.G476S|PSMD1_ENST00000373635.4_Missense_Mutation_p.G476S	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	476					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|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)	CGTTAGACACGGTGGCAGTCT	0.373													4	28					0	0	0	0	A	231947609	G	A	231947609	3	1	237	1	0	0	0	0	1	0	0	0	12771	1116	39	1	1476	1	PSMD1	2	231947609	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	35056020	231947609	11251764	38	43195											
RAMP1	10267	broad.mit.edu	37	chr2	238785963	238785963	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggtagacatggaggcCgtcggggagacgctgtggtg	7	8	18	8	3	0	2	0	0	0	2	2	4	1	3	2	6	0	2	2	6	1	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:238785963C>A	ENST00000254661.4	+	2	282	c.150C>A	c.(148-150)gcC>gcA	p.A50A	RAMP1_ENST00000403885.1_Silent_p.A28A|RAMP1_ENST00000404910.2_Silent_p.A28A|RAMP1_ENST00000409726.1_Silent_p.A28A	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	50					intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	ACATGGAGGCCGTCGGGGAGA	0.657													19	61					1.01871e-10	1.10234e-10	1	0	A	238785963	C	A	238785963	2	1	237	1	0	0	0	0	0	0	0	1	13103	639	23	3		3	RAMP1	2	238785963	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	6838354	238785963	4413410	39	43196											
SCLY	51540	broad.mit.edu	37	chr2	239003069	239003069	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatttttttcaggctgaattCggtcagaagagaatccatct	11	15	8	7	1	3	3	2	1	1	2	5	4	4	3	1	2	0	1	1	2	4	5	rs149428035		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:239003069C>T	ENST00000254663.6	+	10	1180	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	SCLY_ENST00000555827.1_Silent_p.F338F|SCLY_ENST00000422984.2_Silent_p.F244F|SCLY_ENST00000429612.2_Silent_p.F132F	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	338					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		AGGCTGAATTCGGTCAGAAGA	0.448													5	93					0	0	0	0	T	239003069	C	T	239003069	2	4	237	1	0	0	0	0	0	0	0	1	13994	883	31	1		1	SCLY	2	239003069	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	217106	239003069	4196304	40	43197											
MYEOV2	150678	broad.mit.edu	37	chr2	241066179	241066179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacttggattggttcttcCgtaaactgtttcttaagcgt	7	16	9	9	2	2	0	0	0	2	0	3	1	3	1	2	2	2	3	2	2	3	7	rs140948790		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:241066179C>T	ENST00000307266.3	-	5	559	c.560G>A	c.(559-561)cGg>cAg	p.R187Q		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTGGTTCTTCCGTAAACTGTT	0.483													17	117					0	0	0	0	T	241066179	C	T	241066179	3	4	237	1	0	0	0	0	1	0	0	0	10096	652	23	1	202	1	MYEOV2	2	241066179	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	2063110	241066179	2133194	41	43198											
SNED1	25992	broad.mit.edu	37	chr2	241987826	241987826	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctacgtgtgcgagtgcccCgaaggcttcatgggcctgga	6	8	16	11	3	1	0	1	0	0	0	1	3	1	1	3	4	3	2	3	4	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:241987826C>T	ENST00000310397.8	+	9	1368	c.1368C>T	c.(1366-1368)ccC>ccT	p.P456P	SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000401884.1_Silent_p.P456P|SNED1_ENST00000405547.3_Silent_p.P456P|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Silent_p.P456P	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	456	EGF-like 5.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCGAGTGCCCCGAAGGCTTCA	0.662													4	9					0	0	0	0	T	241987826	C	T	241987826	2	4	237	1	0	0	0	0	0	0	0	1	14933	639	23	1		1	SNED1	2	241987826	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	921647	241987826	1211547	42	43199											
CAV3	859	broad.mit.edu	37	chr3	8787388	8787388	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttcgcctgcatctccttCtgccacatctgggcggtggt	3	13	11	14	2	3	0	0	0	3	0	5	0	3	0	3	3	2	2	3	3	0	2	rs116840802		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:8787388C>T	ENST00000343849.2	+	2	368	c.291C>T	c.(289-291)ttC>ttT	p.F97F	CAV3_ENST00000397368.2_Silent_p.F97F|CAV3_ENST00000472766.1_Intron	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	97	Required for interaction with DAG1.		F -> C (in LQT9; increase in late sodium current).|Missing (in HYPCK).		cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GCATCTCCTTCTGCCACATCT	0.582													4	15					0	0	0	0	T	8787388	C	T	8787388	2	4	237	1	0	0	0	0	0	0	0	1	2720	912	32	2		2	CAV3	3	8787388	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08		8787388	189235042	43	43200											
CACNA1D	776	broad.mit.edu	37	chr3	53700551	53700551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggagggctggacagatGtgctctactgggtaagtacc	9	9	14	9	0	1	1	0	0	1	1	1	3	1	3	2	4	3	4	2	4	3	3	rs148674323		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:53700551G>A	ENST00000288139.3	+	7	1223	c.1105G>A	c.(1105-1107)Gtg>Atg	p.V369M	CACNA1D_ENST00000350061.5_Missense_Mutation_p.V369M|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V369M	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	369					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTGGACAGATGTGCTCTACTG	0.512													41	64					0	0	0	0	A	53700551	G	A	53700551	3	1	237	1	0	0	0	0	1	0	0	0	2566	1377	48	4	1131	4	CACNA1D	3	53700551	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	44913163	53700551	144321879	44	43201											
IFT57	55081	broad.mit.edu	37	chr3	107938325	107938325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatattcttgaggctgctCaaagggacgtcccgctttat	9	13	9	10	2	3	1	2	1	1	0	4	2	4	2	1	2	1	3	1	2	3	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:107938325C>T	ENST00000264538.3	-	2	554	c.307G>A	c.(307-309)Gag>Aag	p.E103K		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	103					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TGAGGCTGCTCAAAGGGACGT	0.418													6	82					0	0	0	0	T	107938325	C	T	107938325	3	4	237	1	0	0	0	0	1	0	0	0	7615	835	29	2	1022	2	IFT57	3	107938325	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	54237774	107938325	90084105	45	43202											
SLC35A5	55032	broad.mit.edu	37	chr3	112300018	112300018	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgtctgtcctggtctttGacttcaggccctccctggaa	5	13	10	13	0	3	1	1	1	2	0	5	2	5	2	3	3	0	0	3	3	1	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:112300018G>C	ENST00000492406.1	+	6	1337	c.1054G>C	c.(1054-1056)Gac>Cac	p.D352H	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	352						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CCTGGTCTTTGACTTCAGGCC	0.453													12	86					0	0	0	0	C	112300018	G	C	112300018	3	2	237	1	0	0	0	0	1	0	0	0	14662	1290	45	2	1072	2	SLC35A5	3	112300018	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	4361693	112300018	85722412	46	43203											
RABL3	285282	broad.mit.edu	37	chr3	120424914	120424914	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccaatgaccaacgacgcaAgttttgggaggacttcttat	11	12	9	9	2	1	1	0	1	1	0	2	4	2	3	2	2	1	2	2	2	4	5	rs151038439		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:120424914A>C	ENST00000273375.3	-	4	345	c.316T>G	c.(316-318)Ttg>Gtg	p.L106V	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.L106V	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	106	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CAACGACGCAAGTTTTGGGAG	0.383													10	39					0	0	0	0	C	120424914	A	C	120424914	3	2	237	1	0	0	0	0	1	0	0	0	13054	69	3	5	414	5	RABL3	3	120424914	Missense_Mutation	SNP	A	TCGA-CV-5970-01A-11D-1683-08	8124896	120424914	77597516	47	43204											
DTX3L	151636	broad.mit.edu	37	chr3	122287708	122287708	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgataaaatcaactcaataGagaaaagatttggtgtaaac	19	10	7	5	0	2	3	2	1	0	2	2	4	2	3	0	1	2	1	0	1	9	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:122287708G>C	ENST00000296161.4	+	3	961	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	258					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CAACTCAATAGAGAAAAGATT	0.373													3	33					0	0	0	0	C	122287708	G	C	122287708	3	2	237	1	0	0	0	0	1	0	0	0	4832	943	33	2	782	2	DTX3L	3	122287708	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	1862794	122287708	75734722	48	43205											
CLSTN2	64084	broad.mit.edu	37	chr3	140167508	140167508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgggaagggttgtgaccGggagacctactctgagaaat	11	9	14	7	1	1	3	0	2	1	2	1	6	1	4	2	3	1	1	2	3	3	3	rs148820533		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:140167508G>A	ENST00000458420.3	+	6	1125	c.935G>A	c.(934-936)cGg>cAg	p.R312Q		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	312					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGTTGTGACCGGGAGACCTAC	0.443										HNSCC(16;0.037)			22	236					0	0	0	0	A	140167508	G	A	140167508	3	1	237	1	0	0	0	0	1	0	0	0	3592	1116	39	1	957	1	CLSTN2	3	140167508	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	17879800	140167508	57854922	49	43206											
FAM194A	131831	broad.mit.edu	37	chr3	150377925	150377925	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtatcggaggattggaatCtcctcagggtttggtagctt	8	13	13	7	2	2	0	1	0	1	0	4	3	2	3	1	5	1	4	1	5	3	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:150377925C>T	ENST00000295910.6	-	14	1798	c.1746G>A	c.(1744-1746)gaG>gaA	p.E582E	FAM194A_ENST00000491361.1_Silent_p.E436E	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	582										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGATTGGAATCTCCTCAGGGT	0.463													10	129					0	0	0	0	T	150377925	C	T	150377925	2	4	237	1	0	0	0	0	0	0	0	1	5569	912	32	2		2	FAM194A	3	150377925	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	10210417	150377925	47644505	50	43207											
MED12L	116931	broad.mit.edu	37	chr3	150908657	150908657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgcctcaactcggccgcGgtcaccagtaggggaaaatg	10	6	12	13	3	2	0	2	0	0	0	3	1	2	1	3	4	2	1	3	4	4	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:150908657G>A	ENST00000474524.1	+	13	1945	c.1907G>A	c.(1906-1908)cGg>cAg	p.R636Q	MED12L_ENST00000422248.2_Missense_Mutation_p.R636Q|MED12L_ENST00000273432.4_Missense_Mutation_p.R496Q|MED12L_ENST00000309237.4_Missense_Mutation_p.R636Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	636					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTCGGCCGCGGTCACCAGTA	0.502													7	62					0	0	0	0	A	150908657	G	A	150908657	3	1	237	1	0	0	0	0	1	0	0	0	9498	1116	39	1	1957	1	MED12L	3	150908657	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	530732	150908657	47113773	51	43208											
MED12L	116931	broad.mit.edu	37	chr3	151129190	151129190	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcctatccggccgcacattCcaaccccgtgctaatggaaa	11	7	8	15	3	0	0	0	0	0	0	2	1	2	1	6	2	3	2	6	2	4	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:151129190C>G	ENST00000474524.1	+	39	5968	c.5930C>G	c.(5929-5931)tCc>tGc	p.S1977C	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1977	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCGCACATTCCAACCCCGTG	0.582													13	139					0	0	0	0	G	151129190	C	G	151129190	3	3	237	1	0	0	0	0	1	0	0	0	9498	855	30	2	6084	2	MED12L	3	151129190	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	220533	151129190	46893240	52	43209											
KCNAB1	7881	broad.mit.edu	37	chr3	156175266	156175266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacggctgatgaccatcGcctatgaaagtggtgttaac	11	10	11	9	2	0	4	0	4	0	0	1	4	0	4	2	2	2	2	2	2	4	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:156175266G>A	ENST00000302490.8	+	4	1199	c.328G>A	c.(328-330)Gcc>Acc	p.A110T	KCNAB1_ENST00000471742.1_Missense_Mutation_p.A117T|KCNAB1_ENST00000389634.5_Missense_Mutation_p.A110T|KCNAB1_ENST00000389636.5_Missense_Mutation_p.A128T|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000490337.1_Missense_Mutation_p.A128T	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	128						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATGACCATCGCCTATGAAAG	0.473													17	152					0	0	0	0	A	156175266	G	A	156175266	3	1	237	1	0	0	0	0	1	0	0	0	8062	1087	38	1	867	1	KCNAB1	3	156175266	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	5046076	156175266	41847164	53	43210											
ECT2	1894	broad.mit.edu	37	chr3	172474799	172474799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgggctttgtaaagatGgagtcagtggaagaatttga	14	11	14	2	0	1	3	1	1	0	2	1	5	1	5	0	3	0	2	0	3	5	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:172474799G>A	ENST00000417960.1	+	5	711	c.234G>A	c.(232-234)atG>atA	p.M78I	ECT2_ENST00000232458.5_Missense_Mutation_p.M79I|ECT2_ENST00000427830.1_Missense_Mutation_p.M79I|ECT2_ENST00000441497.2_Missense_Mutation_p.M79I|ECT2_ENST00000392692.3_Missense_Mutation_p.M110I|ECT2_ENST00000540509.1_Missense_Mutation_p.M110I	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	79					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTGTAAAGATGGAGTCAGTGG	0.333													74	107					0	0	0	0	A	172474799	G	A	172474799	3	1	237	1	0	0	0	0	1	0	0	0	4937	1348	47	4	247	4	ECT2	3	172474799	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	16299533	172474799	25547631	54	43211											
MAP3K13	9175	broad.mit.edu	37	chr3	185198087	185198087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagaatttctctgtgtctGatggagaagagggaaatacc	12	11	12	6	0	2	4	0	2	2	3	3	7	2	5	1	2	1	0	1	2	4	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:185198087G>C	ENST00000265026.3	+	13	2903	c.2569G>C	c.(2569-2571)Gat>Cat	p.D857H	MAP3K13_ENST00000535426.1_Missense_Mutation_p.D713H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.D713H|MAP3K13_ENST00000446828.1_Missense_Mutation_p.D650H|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D857H	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	857					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTCTGTGTCTGATGGAGAAGA	0.473													16	141					0	0	0	0	C	185198087	G	C	185198087	3	2	237	1	0	0	0	0	1	0	0	0	9316	1290	45	2	2615	2	MAP3K13	3	185198087	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	12723288	185198087	12824343	55	43212											
MUC4	4585	broad.mit.edu	37	chr3	195481222	195481222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcggccgaaggtgccccCgtcacacttgcagccagcca	8	5	12	16	3	1	0	1	0	0	0	1	1	1	0	5	2	5	2	5	2	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:195481222C>T	ENST00000463781.3	-	19	15649	c.15190G>A	c.(15190-15192)Ggg>Agg	p.G5064R	MUC4_ENST00000475231.1_Missense_Mutation_p.G5012R|MUC4_ENST00000346145.4_Missense_Mutation_p.G828R|MUC4_ENST00000349607.4_Missense_Mutation_p.G777R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1821					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGGTGCCCCCGTCACACTTG	0.652													25	44					0	0	0	0	T	195481222	C	T	195481222	3	4	237	1	0	0	0	0	1	0	0	0	10048	652	23	1	1076	1	MUC4	3	195481222	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	10283135	195481222	2541208	56	43213											
C4orf6	10141	broad.mit.edu	37	chr4	5528029	5528029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accccagtgtgactgtctccGgtgctcactcaactgcagtg	7	10	10	14	1	3	1	2	1	1	0	4	1	3	1	3	1	3	2	3	1	1	0			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:5528029G>A	ENST00000195455.2	+	2	428	c.253G>A	c.(253-255)Ggt>Agt	p.G85S	C4orf6_ENST00000515342.1_3'UTR	NM_005750.2	NP_005741.1	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	85					nervous system development					large_intestine(1)|prostate(1)	2						GACTGTCTCCGGTGCTCACTC	0.438													6	40					0	0	0	0	A	5528029	G	A	5528029	3	1	237	1	0	0	0	0	1	0	0	0	2299	1116	39	1	259	1	C4orf6	4	5528029	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08		5528029	185626247	57	43214											
EVC2	132884	broad.mit.edu	37	chr4	5624705	5624705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacggacgcctgctccctaCgctgctccctgtgctggagt	4	9	12	16	4	0	0	0	0	0	0	2	3	2	2	3	2	4	4	3	2	1	1	rs144420242	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:5624705C>T	ENST00000310917.2	-	14	2551	c.1820G>A	c.(1819-1821)cGt>cAt	p.R607H	EVC2_ENST00000344938.1_Missense_Mutation_p.R687H|EVC2_ENST00000344408.5_Missense_Mutation_p.R687H	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	687						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTGCTCCCTACGCTGCTCCCT	0.592													10	29					0	0	0	0	T	5624705	C	T	5624705	3	4	237	1	0	0	0	0	1	0	0	0	5324	536	19	1	1902	1	EVC2	4	5624705	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	96676	5624705	185529571	58	43215											
C4orf50	389197	broad.mit.edu	37	chr4	5961120	5961120	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattacatttctaactccagCggtgatttatggacctggga	10	14	9	8	1	1	1	0	1	1	0	2	3	2	3	2	3	3	0	2	3	4	6			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:5961120C>T	ENST00000531445.1	-	7	2281	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P	C4orf50_ENST00000324058.5_Silent_p.P271P			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	271										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CTAACTCCAGCGGTGATTTAT	0.458													16	100					0	0	0	0	T	5961120	C	T	5961120	2	4	237	1	0	0	0	0	0	0	0	1	2297	755	27	1		1	C4orf50	4	5961120	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	336415	5961120	185193156	59	43216											
CSN3	1448	broad.mit.edu	37	chr4	71114847	71114847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagctatagcaattaataatCcatatgtgcctcgcacatat	14	12	5	10	1	0	0	0	0	0	0	2	0	1	0	2	0	3	3	2	0	7	6			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:71114847C>G	ENST00000304954.3	+	4	306	c.220C>G	c.(220-222)Cca>Gca	p.P74A		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	74						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AATTAATAATCCATATGTGCC	0.433													8	56					0	0	0	0	G	71114847	C	G	71114847	3	3	237	1	0	0	0	0	1	0	0	0	3981	855	30	2	230	2	CSN3	4	71114847	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	65153727	71114847	120039429	60	43217											
GK2	2712	broad.mit.edu	37	chr4	80327860	80327860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcttccatgtggcataacGaatttcactttctgtggcct	7	17	7	10	1	3	0	1	0	2	0	4	1	4	0	2	2	1	1	2	2	2	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:80327860G>A	ENST00000358842.3	-	1	1512	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	499				R -> C (in Ref. 2; BAF84930).	glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GTGGCATAACGAATTTCACTT	0.478													12	77					0	0	0	0	A	80327860	G	A	80327860	3	1	237	1	0	0	0	0	1	0	0	0	6472	1058	37	1	170	1	GK2	4	80327860	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	9213013	80327860	110826416	61	43218											
GRID2	2895	broad.mit.edu	37	chr4	94377124	94377124	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatggatcttttgtacaacaAggtaaggagcaaaagtacat	16	11	9	5	0	1	0	0	0	1	0	1	2	1	2	0	3	4	4	0	3	8	6			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:94377124A>C	ENST00000282020.4	+	11	2115	c.1858_splice	c.e11+1	p.Q619_splice	GRID2_ENST00000510992.1_Splice_Site_p.Q524_splice	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	619					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTGTACAACAAGGTAAGGAGC	0.353													11	50					0	0	0	0	C	94377124	A	C	94377124	5	2	237	1	0	0	0	0	0	0	1	0	6822	86	3	5	1899	5	GRID2	4	94377124	Splice_Site	SNP	A	TCGA-CV-5970-01A-11D-1683-08	14049264	94377124	96777152	62	43219											
INTU	27152	broad.mit.edu	37	chr4	128627931	128627931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaacttctccaacatgcaGaagaacgctttttggtgact	12	11	8	10	1	1	3	0	1	1	2	2	3	1	3	1	1	5	3	1	1	4	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:128627931G>A	ENST00000335251.5	+	12	2181	c.2078G>A	c.(2077-2079)aGa>aAa	p.R693K		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	693										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CCAACATGCAGAAGAACGCTT	0.438													18	85					0	0	0	0	A	128627931	G	A	128627931	3	1	237	1	0	0	0	0	1	0	0	0	7839	942	33	2	2124	2	INTU	4	128627931	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	34250807	128627931	62526345	63	43220											
INTU	27152	broad.mit.edu	37	chr4	128628077	128628077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcagtacggaagcaaagaGaatctcagggctctgatggt	13	8	13	7	1	2	2	1	1	2	1	3	4	2	3	0	3	3	4	0	3	4	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:128628077G>A	ENST00000335251.5	+	12	2327	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	742										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GAAGCAAAGAGAATCTCAGGG	0.473													22	119					0	0	0	0	A	128628077	G	A	128628077	3	1	237	1	0	0	0	0	1	0	0	0	7839	943	33	2	2270	2	INTU	4	128628077	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	146	128628077	62526199	64	43221											
MAP9	79884	broad.mit.edu	37	chr4	156281422	156281422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatcagttccgcttttgcCttttcttcttcaaggtcatc	7	18	5	11	1	5	0	3	0	2	0	7	0	6	0	2	1	1	2	2	1	2	8			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:156281422C>A	ENST00000311277.4	-	7	1211	c.948G>T	c.(946-948)aaG>aaT	p.K316N	AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000594492.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K292N|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000600928.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	316					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CCGCTTTTGCCTTTTCTTCTT	0.378													9	50					2.74318e-10	2.95733e-10	1	0	A	156281422	C	A	156281422	3	1	237	1	0	0	0	0	1	0	0	0	9339	680	24	4	1027	4	MAP9	4	156281422	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	27653345	156281422	34872854	65	43222											
SEMA5A	9037	broad.mit.edu	37	chr5	9119159	9119159	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcccccgtgcctgggagTggggttgctgcaggagcgct	3	7	18	13	3	0	0	0	0	0	0	0	2	0	2	4	5	4	4	4	5	0	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:9119159T>C	ENST00000382496.5	-	15	2541	c.1876A>G	c.(1876-1878)Act>Gct	p.T626A		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	626	TSP type-1 2.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGCCTGGGAGTGGGGTTGCTG	0.667													9	38					0	0	0	0	C	9119159	T	C	9119159	3	2	237	1	0	0	0	0	1	0	0	0	14124	1696	59	5	1384	5	SEMA5A	5	9119159	Missense_Mutation	SNP	T	TCGA-CV-5970-01A-11D-1683-08		9119159	171796101	66	43223											
MARCH6	10299	broad.mit.edu	37	chr5	10407240	10407240	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggctccattgtcctcctGatgctttggcttcctatacg	4	17	8	12	1	0	1	0	1	0	0	4	1	4	1	4	2	2	3	4	2	2	6			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:10407240G>A	ENST00000274140.5	+	17	1611	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	MARCH6_ENST00000449913.2_Silent_p.L445L|MARCH6_ENST00000503788.1_Silent_p.L388L|MARCH6_ENST00000510792.1_Silent_p.L191L	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	493					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTGTCCTCCTGATGCTTTGGC	0.408													26	293					0	0	0	0	A	10407240	G	A	10407240	2	1	237	1	0	0	0	0	0	0	0	1	9374	1277	45	2		2	MARCH6	5	10407240	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	1288081	10407240	170508020	67	43224											
PRDM9	56979	broad.mit.edu	37	chr5	23527576	23527576	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataagtcaaacctcctcagTcaccagaggacacacacagg	15	5	8	13	0	3	1	3	0	0	1	4	3	4	2	3	2	1	0	3	2	2	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:23527576T>A	ENST00000296682.3	+	11	2561	c.2379T>A	c.(2377-2379)agT>agA	p.S793R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	793					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.S793R(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACCTCCTCAGTCACCAGAGGA	0.562										HNSCC(3;0.000094)			5	154					0	0	0	0	A	23527576	T	A	23527576	3	1	237	1	0	0	0	0	1	0	0	0	12543	1664	58	5	2417	5	PRDM9	5	23527576	Missense_Mutation	SNP	T	TCGA-CV-5970-01A-11D-1683-08	13120336	23527576	157387684	68	43225											
TARS	6897	broad.mit.edu	37	chr5	33448677	33448677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgaatatatttacacaCgtcttgagatgtataatata	14	14	7	6	1	1	2	0	2	1	1	1	3	1	2	1	1	1	1	1	1	8	9			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:33448677C>T	ENST00000265112.3	+	3	480	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	TARS_ENST00000414361.2_5'UTR|TARS_ENST00000455217.2_Missense_Mutation_p.R57C|TARS_ENST00000541634.1_Intron|TARS_ENST00000502553.1_Missense_Mutation_p.R57C	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	57					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TATTTACACACGTCTTGAGAT	0.343													8	85					0	0	0	0	T	33448677	C	T	33448677	3	4	237	1	0	0	0	0	1	0	0	0	15650	536	19	1	179	1	TARS	5	33448677	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	9921101	33448677	147466583	69	43226											
SLC1A3	6507	broad.mit.edu	37	chr5	36686248	36686248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacttgtcacgacatgaactGaagaacagagatgttgaaat	16	9	9	7	1	1	5	1	3	0	2	1	7	1	5	0	0	2	1	0	0	4	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:36686248G>A	ENST00000265113.4	+	10	1982	c.1506G>A	c.(1504-1506)ctG>ctA	p.L502L	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Silent_p.L457L	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	502					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GACATGAACTGAAGAACAGAG	0.498													20	198					0	0	0	0	A	36686248	G	A	36686248	2	1	237	1	0	0	0	0	0	0	0	1	14521	1277	45	2		2	SLC1A3	5	36686248	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	3237571	36686248	144229012	70	43227											
C5orf42	65250	broad.mit.edu	37	chr5	37108457	37108457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctgaaggtatcgtccaggGactcaccacagtctcctctc	8	11	8	14	1	4	1	1	1	3	0	8	2	5	2	3	2	0	1	3	2	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:37108457G>A	ENST00000274258.7	-	51	9636	c.6049C>T	c.(6049-6051)Ccc>Tcc	p.P2017S	C5orf42_ENST00000508244.1_Missense_Mutation_p.P3119S|C5orf42_ENST00000425232.2_Missense_Mutation_p.P3119S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	3119										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)			ATCGTCCAGGGACTCACCACA	0.423													6	91					0	0	0	0	A	37108457	G	A	37108457	3	1	237	1	0	0	0	0	1	0	0	0	2322	1174	41	2	246	2	C5orf42	5	37108457	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	422209	37108457	143806803	71	43228											
MAST4	375449	broad.mit.edu	37	chr5	66398375	66398375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttgcagccctggacgttCtcccgcctgctgtgaccatg	4	11	11	15	2	1	1	0	1	1	0	2	2	1	2	4	1	4	4	4	1	0	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:66398375C>T	ENST00000404260.3	+	9	1399	c.1091C>T	c.(1090-1092)tCt>tTt	p.S364F	MAST4_ENST00000405643.1_Missense_Mutation_p.S182F|MAST4_ENST00000261569.7_Missense_Mutation_p.S167F|MAST4_ENST00000403625.2_Missense_Mutation_p.S361F|MAST4_ENST00000403666.1_Missense_Mutation_p.S172F|MAST4_ENST00000490016.2_Missense_Mutation_p.S172F			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	364						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCTGGACGTTCTCCCGCCTGC	0.373													16	59					0	0	0	0	T	66398375	C	T	66398375	3	4	237	1	0	0	0	0	1	0	0	0	9396	913	32	2	1246	2	MAST4	5	66398375	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	29289918	66398375	114516885	72	43229											
TAF9	6880	broad.mit.edu	37	chr5	68660814	68660814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatcatcgtcatcatcatCatcttcacgttttcttttca	9	18	2	12	2	10	0	8	0	2	0	11	0	10	0	0	0	0	1	0	0	0	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:68660814C>T	ENST00000328663.4	-	3	1217	c.751G>A	c.(751-753)Gat>Aat	p.D251N	TAF9_ENST00000380818.3_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.D251N|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_Missense_Mutation_p.D251N	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		tcatcatcatcatcttcaCGT	0.323													7	49					0	0	0	0	T	68660814	C	T	68660814	3	4	237	1	0	0	0	0	1	0	0	0	15626	826	29	2	457	2	TAF9	5	68660814	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	2262439	68660814	112254446	73	43230											
DMGDH	29958	broad.mit.edu	37	chr5	78338269	78338269	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgatgtgttccatgattcGatctagatcagactcaaaga	12	14	8	7	1	3	5	2	2	1	3	5	6	4	5	1	0	0	1	1	0	2	4	rs143021634	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:78338269G>A	ENST00000255189.3	-	7	1058	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Nonsense_Mutation_p.R143*	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	344					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCCATGATTCGATCTAGATCA	0.423													11	64					0	0	0	0	A	78338269	G	A	78338269	4	1	237	1	0	0	0	0	0	1	0	0	4618	1066	37	1	1610	1	DMGDH	5	78338269	Nonsense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	9677455	78338269	102576991	74	43231											
LNPEP	4012	broad.mit.edu	37	chr5	96314937	96314937	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagagccttgtttacatcctCtagagcctgatgaggtggaa	11	11	11	8	0	1	4	0	2	1	2	2	5	2	5	3	2	3	1	3	2	4	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:96314937C>G	ENST00000231368.5	+	2	807	c.115C>G	c.(115-117)Cta>Gta	p.L39V	LNPEP_ENST00000395770.3_Missense_Mutation_p.L25V	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	39					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTTACATCCTCTAGAGCCTGA	0.498													11	74					0	0	0	0	G	96314937	C	G	96314937	3	3	237	1	0	0	0	0	1	0	0	0	8919	912	32	2	121	2	LNPEP	5	96314937	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	17976668	96314937	84600323	75	43232											
FSTL4	23105	broad.mit.edu	37	chr5	132652228	132652228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagattccaccaggaggcGcttctgggaggcagggtctt	8	8	15	10	1	2	1	0	0	2	1	3	4	3	3	2	5	0	2	2	5	0	3	rs139711882	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:132652228G>A	ENST00000265342.7	-	5	775	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	176	EF-hand.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCAGGAGGCGCTTCTGGGAG	0.587											OREG0016777	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	38					0	0	0	0	A	132652228	G	A	132652228	3	1	237	1	0	0	0	0	1	0	0	0	6127	1087	38	1	2050	1	FSTL4	5	132652228	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	36337291	132652228	48263032	76	43233											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769023	140769023	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaccacgagcagctgcgCgccttcgaactcacactgca	9	7	9	16	5	1	0	1	0	0	0	3	3	1	0	2	0	5	3	2	0	1	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:140769023C>T	ENST00000519479.1	+	1	1572	c.1572C>T	c.(1570-1572)cgC>cgT	p.R524R	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGCTGCGCGCCTTCGAAC	0.672													21	39					0	0	0	0	T	140769023	C	T	140769023	2	4	237	1	0	0	0	0	0	0	0	1	11636	755	27	1		1	PCDHGB4	5	140769023	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	8116795	140769023	40146237	77	43234											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769043	140769043	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccttcgaactcacactgcAggcccgcgaccagggctcgc	7	5	11	18	5	1	0	1	0	0	0	3	2	1	0	3	2	2	2	3	2	1	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:140769043A>T	ENST00000519479.1	+	1	1592	c.1592A>T	c.(1591-1593)cAg>cTg	p.Q531L	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACACTGCAGGCCCGCGAC	0.677													18	31					0	0	0	0	T	140769043	A	T	140769043	3	4	237	1	0	0	0	0	1	0	0	0	11636	188	7	5	1594	5	PCDHGB4	5	140769043	Missense_Mutation	SNP	A	TCGA-CV-5970-01A-11D-1683-08	20	140769043	40146217	78	43235											
TTC1	7265	broad.mit.edu	37	chr5	159437549	159437549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcagcatgggggagaagtCagagaactgtggggttccag	10	6	19	6	0	1	2	1	0	0	2	2	4	2	2	1	5	2	3	1	5	2	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:159437549C>T	ENST00000231238.5	+	2	124	c.14C>T	c.(13-15)tCa>tTa	p.S5L	TTC1_ENST00000522793.1_Missense_Mutation_p.S5L	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	5					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GGGGAGAAGTCAGAGAACTGT	0.463													7	44					0	0	0	0	T	159437549	C	T	159437549	3	4	237	1	0	0	0	0	1	0	0	0	16774	838	29	2	16	2	TTC1	5	159437549	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	18668506	159437549	21477711	79	43236											
OR2H2	7932	broad.mit.edu	37	chr6	29556072	29556072	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcctcttgacagtgatggcTtttgatcgctacgtggctgt	6	15	11	9	2	1	3	0	3	1	0	3	3	2	3	1	2	1	3	1	2	1	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:29556072T>C	ENST00000383640.2	+	1	390	c.351T>C	c.(349-351)gcT>gcC	p.A117A	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	117					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CAGTGATGGCTTTTGATCGCT	0.587													3	86					0	0	0	0	C	29556072	T	C	29556072	2	2	237	1	0	0	0	0	0	0	0	1	11073	1596	56	5		5	OR2H2	6	29556072	Silent	SNP	T	TCGA-CV-5970-01A-11D-1683-08		29556072	141558995	80	43237											
PACSIN1	29993	broad.mit.edu	37	chr6	34499521	34499521	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgcgtgcgggcactctaCgactatgacggccaggagca	8	6	15	12	5	1	1	0	1	1	0	1	3	1	2	1	3	4	2	1	3	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:34499521C>T	ENST00000538621.1	+	9	1427	c.1182C>T	c.(1180-1182)taC>taT	p.Y394Y	PACSIN1_ENST00000374043.2_Silent_p.Y352Y|PACSIN1_ENST00000244458.2_Silent_p.Y394Y	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	394	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GGGCACTCTACGACTATGACG	0.647													30	135					0	0	0	0	T	34499521	C	T	34499521	2	4	237	1	0	0	0	0	0	0	0	1	11445	547	19	1		1	PACSIN1	6	34499521	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	4943449	34499521	136615546	81	43238											
ZNF76	7629	broad.mit.edu	37	chr6	35260716	35260716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccggatagcttacctttcGgaggtgaaggaagagagaga	12	7	14	8	2	0	3	0	1	0	2	1	8	0	6	3	4	2	1	3	4	4	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:35260716G>A	ENST00000373953.3	+	11	1490	c.1224G>A	c.(1222-1224)tcG>tcA	p.S408S	ZNF76_ENST00000339411.5_Silent_p.S408S|ZNF76_ENST00000440666.2_Silent_p.S382S	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	408					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTTACCTTTCGGAGGTGAAGG	0.612													55	55					0	0	0	0	A	35260716	G	A	35260716	2	1	237	1	0	0	0	0	0	0	0	1	18229	1103	39	1		1	ZNF76	6	35260716	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	761195	35260716	135854351	82	43239											
CPNE5	57699	broad.mit.edu	37	chr6	36714277	36714277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggatgatctctccgaCggcagtcagcgccagcgcgt	6	8	14	13	5	2	1	1	1	1	0	4	3	3	2	2	2	3	2	2	2	0	0	rs150078502	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:36714277C>T	ENST00000244751.2	-	16	1720	c.1096G>A	c.(1096-1098)Gtc>Atc	p.V366I	CPNE5_ENST00000393189.2_Missense_Mutation_p.V74I|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	366	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ATCTCTCCGACGGCAGTCAGC	0.622													4	59					0	0	0	0	T	36714277	C	T	36714277	3	4	237	1	0	0	0	0	1	0	0	0	3845	536	19	1	709	1	CPNE5	6	36714277	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	1453561	36714277	134400790	83	43240											
ZNF292	23036	broad.mit.edu	37	chr6	87966228	87966228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaactcaactgtggaaGgcagtggtgaagcactggtc	14	7	13	7	0	1	2	1	1	0	1	2	3	1	3	0	4	3	2	0	4	6	0			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:87966228G>A	ENST00000369577.3	+	8	2924	c.2881G>A	c.(2881-2883)Ggc>Agc	p.G961S	ZNF292_ENST00000339907.4_Missense_Mutation_p.G956S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	961					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACTGTGGAAGGCAGTGGTGA	0.428													18	47					0	0	0	0	A	87966228	G	A	87966228	3	1	237	1	0	0	0	0	1	0	0	0	17921	1000	35	4	2911	4	ZNF292	6	87966228	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	51251951	87966228	83148839	84	43241											
C6orf165	154313	broad.mit.edu	37	chr6	88126412	88126412	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacagagtgtttttcctcaGgcagagcttgggacatttct	8	14	10	9	0	2	2	1	0	1	2	3	3	3	3	1	2	2	3	1	2	1	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:88126412G>A	ENST00000507897.1	+	6	581	c.498G>A	c.(496-498)caG>caA	p.Q166Q	C6ORF165_ENST00000369562.4_Silent_p.Q166Q			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	166										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTTTTCCTCAGGCAGAGCTTG	0.338													25	12					0	0	0	0	A	88126412	G	A	88126412	2	1	237	1	0	0	0	0	0	0	0	1	2362	991	35	4		4	C6orf165	6	88126412	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	160184	88126412	82988655	85	43242											
MDN1	23195	broad.mit.edu	37	chr6	90372597	90372597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatcaccccaaagcctctCatctagtttgtcagcttcct	9	13	4	15	0	5	0	4	0	2	0	7	0	6	0	4	0	2	2	4	0	2	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:90372597C>T	ENST00000369393.3	-	86	14441	c.14326G>A	c.(14326-14328)Gag>Aag	p.E4776K	MDN1_ENST00000428876.1_Missense_Mutation_p.E4776K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4776					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAAAGCCTCTCATCTAGTTTG	0.443													22	78					0	0	0	0	T	90372597	C	T	90372597	3	4	237	1	0	0	0	0	1	0	0	0	9484	835	29	2	2532	2	MDN1	6	90372597	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	2246185	90372597	80742470	86	43243											
GOPC	57120	broad.mit.edu	37	chr6	117890830	117890830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccaacgtgcagccctcCgcatctatcagcaggttgcc	8	8	8	17	2	2	0	1	0	1	0	4	0	4	0	5	1	5	4	5	1	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:117890830C>T	ENST00000535237.1	-	7	1211	c.982G>A	c.(982-984)Gga>Aga	p.G328R	GOPC_ENST00000052569.6_Missense_Mutation_p.G320R|DCBLD1_ENST00000296955.8_3'UTR|GOPC_ENST00000368498.2_Missense_Mutation_p.G328R|GOPC_ENST00000467125.1_5'UTR					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TGCAGCCCTCCGCATCTATCA	0.458			O	ROS1	glioblastoma								31	96					0	0	0	0	T	117890830	C	T	117890830	3	4	237	1	0	0	0	0	1	0	0	0	6621	661	23	1	418	1	GOPC	6	117890830	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	27518233	117890830	53224237	87	43244											
EYA4	2070	broad.mit.edu	37	chr6	133783571	133783571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagccagccgtctacaCagcctactcacagacaggac	12	4	9	16	1	2	1	1	0	1	1	2	2	2	2	3	1	6	2	3	1	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:133783571C>A	ENST00000367895.5	+	8	1000	c.536C>A	c.(535-537)aCa>aAa	p.T179K	EYA4_ENST00000355286.6_Missense_Mutation_p.T156K|EYA4_ENST00000525849.1_Missense_Mutation_p.T156K|EYA4_ENST00000355167.3_Missense_Mutation_p.T179K|EYA4_ENST00000452339.2_Missense_Mutation_p.T125K|EYA4_ENST00000431403.2_Missense_Mutation_p.T179K|EYA4_ENST00000430974.2_Missense_Mutation_p.T125K|EYA4_ENST00000531901.1_Missense_Mutation_p.T179K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	179					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GCCGTCTACACAGCCTACTCA	0.507													9	55					0.000274275	0.00028306	1	0	A	133783571	C	A	133783571	3	1	237	1	0	0	0	0	1	0	0	0	5369	478	17	4	562	4	EYA4	6	133783571	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	15892741	133783571	37331496	88	43245											
SDK1	221935	broad.mit.edu	37	chr7	4272924	4272924	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttgtgaaggacatcccGcggagcgccacatcctacac	10	8	10	13	3	0	1	0	1	0	0	2	3	2	3	3	2	2	1	3	2	2	2	rs144472783		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:4272924G>A	ENST00000404826.2	+	41	6004	c.5865G>A	c.(5863-5865)ccG>ccA	p.P1955P	SDK1_ENST00000389531.3_Silent_p.P1935P|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1955	Fibronectin type-III 13.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGACATCCCGCGGAGCGCCA	0.597													10	50					0	0	0	0	A	4272924	G	A	4272924	2	1	237	1	0	0	0	0	0	0	0	1	14055	1074	38	1		1	SDK1	7	4272924	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08		4272924	154865739	89	43246											
TNRC18	84629	broad.mit.edu	37	chr7	5401259	5401259	+	Frame_Shift_Del	DEL	G	G	-																															gccgctcttccctctcttgcGggggggcgacagggcgctcg																										TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:5401259delG	ENST00000399537.4	-	14	4975	c.4627delC	c.(4627-4629)gcfs	p.R1543fs	TNRC18_ENST00000430969.1_Frame_Shift_Del_p.R1543fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1543							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTCTCTTGCGGGGGGGCGAC	0.692													2	4	---	---	---	---					-	5401259	G	-	5401259	7	5	237	1	0	1	0	1	0	0	0	0	16433	1116	39	0	4347	0	TNRC18	7	5401259	Frame_Shift_Del	DEL	G	TCGA-CV-5970-01A-11D-1683-08	1128335	5401259	153737404	90	43247											
C7orf31	136895	broad.mit.edu	37	chr7	25175685	25175685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttatggtcttctagaattGatttatggaaacgcttttgt	9	19	8	5	1	2	2	0	1	2	1	2	3	2	3	0	2	1	1	0	2	5	9			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:25175685G>A	ENST00000409280.1	-	10	1987	c.1679C>T	c.(1678-1680)tCa>tTa	p.S560L	C7orf31_ENST00000283905.3_Missense_Mutation_p.S560L			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	560										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TTCTAGAATTGATTTATGGAA	0.403													16	83					0	0	0	0	A	25175685	G	A	25175685	3	1	237	1	0	0	0	0	1	0	0	0	2410	1294	45	2	97	2	C7orf31	7	25175685	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	19774426	25175685	133962978	91	43248											
STARD3NL	83930	broad.mit.edu	37	chr7	38259205	38259205	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttcagagagggcagcacTtatacctggtggtctttctg	7	13	12	9	0	3	1	1	0	2	1	3	2	3	1	1	3	3	3	1	3	2	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:38259205T>G	ENST00000009041.7	+	7	850	c.593T>G	c.(592-594)cTt>cGt	p.L198R	STARD3NL_ENST00000396013.1_Missense_Mutation_p.L198R|STARD3NL_ENST00000544203.1_Missense_Mutation_p.L191R|STARD3NL_ENST00000434197.1_Missense_Mutation_p.L180R	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	198	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						AGGGCAGCACTTATACCTGGT	0.418													8	84					0	0	0	0	G	38259205	T	G	38259205	3	3	237	1	0	0	0	0	1	0	0	0	15348	1609	56	5	615	5	STARD3NL	7	38259205	Missense_Mutation	SNP	T	TCGA-CV-5970-01A-11D-1683-08	13083520	38259205	120879458	92	43249											
MYL7	58498	broad.mit.edu	37	chr7	44179945	44179945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcttctccccaaagagcGtgaggaagacggtgaagttg	11	8	14	8	2	1	5	0	3	1	2	2	6	1	6	2	2	2	2	2	2	3	2	rs142668114		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:44179945G>A	ENST00000458240.1	-	3	482	c.194C>T	c.(193-195)aCg>aTg	p.T65M	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000223364.3_Missense_Mutation_p.T92M			Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	92	EF-hand 1.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						CCCAAAGAGCGTGAGGAAGAC	0.642													10	71					0	0	0	0	A	44179945	G	A	44179945	3	1	237	1	0	0	0	0	1	0	0	0	10123	1145	40	1	268	1	MYL7	7	44179945	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	5920740	44179945	114958718	93	43250											
CCT6A	908	broad.mit.edu	37	chr7	56124052	56124052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagcaagatgaacctattGatctcttcatgattgagatc	15	12	7	7	0	2	5	1	4	1	2	4	6	2	5	1	0	2	1	1	0	5	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:56124052G>C	ENST00000275603.4	+	5	778	c.559G>C	c.(559-561)Gat>Cat	p.D187H	CCT6A_ENST00000540286.1_Missense_Mutation_p.D156H|CCT6A_ENST00000335503.3_Missense_Mutation_p.D142H	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	187					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAACCTATTGATCTCTTCAT	0.393													10	68					0	0	0	0	C	56124052	G	C	56124052	3	2	237	1	0	0	0	0	1	0	0	0	2986	1290	45	2	577	2	CCT6A	7	56124052	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	11944107	56124052	103014611	94	43251											
SLC25A40	55972	broad.mit.edu	37	chr7	87476268	87476268	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataagataaatcctacctgaGaaaggtacatctctaagaac	18	9	6	8	0	1	3	0	1	1	3	3	4	2	3	2	1	3	1	2	1	8	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:87476268G>A	ENST00000341119.5	-	8	973	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	209					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TCCTACCTGAGAAAGGTACAT	0.378													11	56					0	0	0	0	A	87476268	G	A	87476268	2	1	237	1	0	0	0	0	0	0	0	1	14593	933	33	2		2	SLC25A40	7	87476268	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	31352216	87476268	71662395	95	43252											
PEX1	5189	broad.mit.edu	37	chr7	92136441	92136441	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcctaaggaattcactcctCtgtaaaaaatatacatagtt	15	12	5	9	1	2	0	1	0	1	0	3	1	3	1	2	1	1	2	2	1	8	7			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:92136441C>T	ENST00000248633.4	-	10	1766		c.e10-1		PEX1_ENST00000428214.1_Splice_Site|PEX1_ENST00000541751.1_Splice_Site|PEX1_ENST00000438045.1_Splice_Site	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1						microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTCACTCCTCTGTAAAAAAT	0.403													4	21					0	0	0	0	T	92136441	C	T	92136441	5	4	237	1	0	0	0	0	0	0	1	0	11807	927	32	2	2241	2	PEX1	7	92136441	Splice_Site	SNP	C	TCGA-CV-5970-01A-11D-1683-08	4660173	92136441	67002222	96	43253											
COG5	10466	broad.mit.edu	37	chr7	107053006	107053006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttccacttcaagtcgggCtcttgcaataaaaagtagat	13	13	7	8	1	2	1	1	0	1	1	4	1	3	1	1	1	1	3	1	1	6	6			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:107053006C>T	ENST00000393603.2	-	7	974	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	COG5_ENST00000347053.3_Missense_Mutation_p.A235T|COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.A235T	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	235					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCAAGTCGGGCTCTTGCAATA	0.328													18	51					0	0	0	0	T	107053006	C	T	107053006	3	4	237	1	0	0	0	0	1	0	0	0	3691	797	28	4	1947	4	COG5	7	107053006	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	14916565	107053006	52085657	97	43254											
WNT16	51384	broad.mit.edu	37	chr7	120979112	120979112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggaaaatgcgcaggagaGaaaaagatcagaggaaaata	22	3	13	3	1	1	4	1	0	0	4	1	8	1	7	0	3	1	1	0	3	7	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:120979112G>C	ENST00000222462.2	+	4	1101	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	WNT16_ENST00000361301.2_Missense_Mutation_p.E261Q	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	271					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GCGCAGGAGAGAAAAAGATCA	0.368													6	24					0	0	0	0	C	120979112	G	C	120979112	3	2	237	1	0	0	0	0	1	0	0	0	17481	943	33	2	894	2	WNT16	7	120979112	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	13926106	120979112	38159551	98	43255											
PRKAG2	51422	broad.mit.edu	37	chr7	151261269	151261269	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagggcctgggtcacCgtgatatctaggttattgta	8	13	13	7	1	2	2	1	2	1	0	2	2	2	2	2	3	1	3	2	3	5	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:151261269C>T	ENST00000287878.4	-	14	1983	c.1479G>A	c.(1477-1479)acG>acA	p.T493T	PRKAG2_ENST00000392801.2_Silent_p.T449T|PRKAG2_ENST00000492843.1_Silent_p.T369T|PRKAG2_ENST00000418337.2_Silent_p.T252T|PRKAG2_ENST00000433631.2_Silent_p.T368T	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	493					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CCTGGGTCACCGTGATATCTA	0.398													5	91					0	0	0	0	T	151261269	C	T	151261269	2	4	237	1	0	0	0	0	0	0	0	1	12581	639	23	1		1	PRKAG2	7	151261269	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	30282157	151261269	7877394	99	43256											
SFTPC	6440	broad.mit.edu	37	chr8	22019379	22019379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtcctgatggagagccCgccggtgagtgtggttgcgt	6	9	18	8	3	0	4	0	2	0	2	1	5	1	4	3	4	2	1	3	4	0	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:22019379C>T	ENST00000521315.1	+	1	70	c.38C>T	c.(37-39)cCg>cTg	p.P13L	SFTPC_ENST00000524255.1_Missense_Mutation_p.P13L|SFTPC_ENST00000522109.1_Missense_Mutation_p.P13L|SFTPC_ENST00000520605.1_Missense_Mutation_p.P13L|SFTPC_ENST00000437090.2_Missense_Mutation_p.P13L|SFTPC_ENST00000318561.3_Missense_Mutation_p.P13L			P11686	PSPC_HUMAN	surfactant protein C	13					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ATGGAGAGCCCGCCGgtgagt	0.572													13	53					0	0	0	0	T	22019379	C	T	22019379	3	4	237	1	0	0	0	0	1	0	0	0	14279	652	23	1	40	1	SFTPC	8	22019379	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08		22019379	124344643	100	43257											
SLC39A14	23516	broad.mit.edu	37	chr8	22266000	22266000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaggaggggcggccaagcGctgttgaaggtgagccaggc	8	4	20	9	3	0	2	0	2	0	0	0	4	0	4	2	7	2	2	2	7	2	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:22266000G>A	ENST00000381237.1	+	3	567	c.448G>A	c.(448-450)Gct>Act	p.A150T	SLC39A14_ENST00000289952.5_Missense_Mutation_p.A150T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A150T|SLC39A14_ENST00000359741.5_Missense_Mutation_p.A150T	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	150						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GCGGCCAAGCGCTGTTGAAGG	0.642													4	19					0	0	0	0	A	22266000	G	A	22266000	3	1	237	1	0	0	0	0	1	0	0	0	14705	1087	38	1	454	1	SLC39A14	8	22266000	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	246621	22266000	124098022	101	43258											
PRKDC	5591	broad.mit.edu	37	chr8	48798673	48798673	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacgccgtggacagcacCgctgggttcaggagaagact	11	5	15	10	3	1	2	1	0	0	2	1	5	1	4	2	4	1	3	2	4	2	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:48798673C>T	ENST00000314191.2	-	37	4661	c.4605G>A	c.(4603-4605)gcG>gcA	p.A1535A	PRKDC_ENST00000338368.3_Silent_p.A1535A|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1536	Interaction with C1D.|Leucine-zipper.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGGACAGCACCGCTGGGTTCA	0.527								Non-homologous end-joining					17	23					0	0	0	0	T	48798673	C	T	48798673	2	4	237	1	0	0	0	0	0	0	0	1	12601	639	23	1		1	PRKDC	8	48798673	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	26532673	48798673	97565349	102	43259											
XKR4	114786	broad.mit.edu	37	chr8	56436657	56436657	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataggtacccagcatgggaGagacatgttttggaccgaag	13	8	13	7	1	0	1	0	0	0	1	0	5	0	3	2	3	2	3	2	3	4	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:56436657G>C	ENST00000327381.5	+	3	1924	c.1824G>C	c.(1822-1824)gaG>gaC	p.E608D		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	608						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCATGGGAGAGACATGTTT	0.488													7	28					0	0	0	0	C	56436657	G	C	56436657	3	2	237	1	0	0	0	0	1	0	0	0	17529	933	33	2	1834	2	XKR4	8	56436657	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	7637984	56436657	89927365	103	43260											
CHD7	55636	broad.mit.edu	37	chr8	61765187	61765187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttgacaaaaaatctgatGagagtttggagaaatacttc	15	11	10	5	0	1	4	0	3	1	2	2	6	1	4	0	2	1	2	0	2	5	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:61765187G>A	ENST00000423902.2	+	30	6504	c.6025G>A	c.(6025-6027)Gag>Aag	p.E2009K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2009					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAATCTGATGAGAGTTTGGA	0.438													9	22					0	0	0	0	A	61765187	G	A	61765187	3	1	237	1	0	0	0	0	1	0	0	0	3359	1291	45	2	6139	2	CHD7	8	61765187	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	5328530	61765187	84598835	104	43261											
KIFC2	90990	broad.mit.edu	37	chr8	145698053	145698053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctggtcacgctgacgctgCgcgcggcgtctccaccgcgc	3	6	13	19	8	2	1	1	1	1	0	3	1	2	1	3	2	1	2	3	2	0	0			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:145698053C>T	ENST00000301332.2	+	16	2202	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	KIFC2_ENST00000301331.5_Intron|KIFC2_ENST00000531423.1_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	609	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCTGACGCTGCGCGCGGCGTC	0.721													4	27					0	0	0	0	T	145698053	C	T	145698053	3	4	237	1	0	0	0	0	1	0	0	0	8364	768	27	1	1887	1	KIFC2	8	145698053	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	83932866	145698053	665969	105	43262											
PHF2	5253	broad.mit.edu	37	chr9	96435940	96435940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccaacctgcaggcctccGactcctgcctgcagaccacg	7	6	10	18	2	0	1	0	0	0	1	2	2	2	1	7	2	4	2	7	2	1	0	rs145764244	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr9:96435940G>A	ENST00000359246.4	+	18	2789	c.2422G>A	c.(2422-2424)Gac>Aac	p.D808N	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	808					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCAGGCCTCCGACTCCTGCCT	0.667													8	55					0	0	0	0	A	96435940	G	A	96435940	3	1	237	1	0	0	0	0	1	0	0	0	11902	1058	37	1	2492	1	PHF2	9	96435940	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08		96435940	44777491	106	43263											
GSN	2934	broad.mit.edu	37	chr9	124073041	124073041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcttccaggtcaaagggcGgcgtgtggtccgtgccaccg	6	8	14	13	4	2	0	1	0	1	0	4	0	4	0	4	4	1	0	4	4	1	1	rs144099356	by1000genomes	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr9:124073041G>A	ENST00000373823.3	+	12	1336	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	GSN_ENST00000373808.2_Missense_Mutation_p.R144Q|GSN_ENST00000394353.2_Missense_Mutation_p.R155Q|GSN_ENST00000436847.1_Missense_Mutation_p.R155Q|GSN_ENST00000545652.1_Missense_Mutation_p.R152Q|GSN_ENST00000449733.1_Missense_Mutation_p.R144Q|GSN_ENST00000341272.2_Missense_Mutation_p.R144Q|GSN_ENST00000412819.1_Missense_Mutation_p.R144Q|GSN_ENST00000373818.4_Missense_Mutation_p.R195Q|GSN_ENST00000485767.1_3'UTR			P06396	GELS_HUMAN	gelsolin	195	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GTCAAAGGGCGGCGTGTGGTC	0.587													8	47					0	0	0	0	A	124073041	G	A	124073041	3	1	237	1	0	0	0	0	1	0	0	0	6875	1116	39	1	626	1	GSN	9	124073041	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	27637101	124073041	17140390	107	43264											
FCN2	2220	broad.mit.edu	37	chr9	137779204	137779204	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggcatcaactggaagtcGgggaaaggatacaattatag	16	8	12	5	1	1	0	1	0	0	0	2	3	1	3	0	5	2	1	0	5	8	3	rs150154280	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr9:137779204G>A	ENST00000350339.2	+	7	785	c.771G>A	c.(769-771)tcG>tcA	p.S257S	FCN2_ENST00000291744.6_Silent_p.S295S	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	295	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		ACTGGAAGTCGGGGAAAGGAT	0.537													45	16					0	0	0	0	A	137779204	G	A	137779204	2	1	237	1	0	0	0	0	0	0	0	1	5837	1103	39	1		1	FCN2	9	137779204	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	13706163	137779204	3434227	108	43265											
PITRM1	10531	broad.mit.edu	37	chr10	3189404	3189404	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcttcctcaggatgggtttGatatctgtcatttctgcaat	8	16	9	8	0	4	1	2	1	2	0	5	2	5	2	1	2	2	3	1	2	2	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:3189404G>C	ENST00000380989.2	-	20	2315	c.2277C>G	c.(2275-2277)atC>atG	p.I759M	PITRM1_ENST00000451104.2_Missense_Mutation_p.I660M|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000224949.4_Missense_Mutation_p.I758M|PITRM1_ENST00000380994.1_Missense_Mutation_p.I316M|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000464395.1_5'UTR	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	660					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GGATGGGTTTGATATCTGTCA	0.438													8	49					0	0	0	0	C	3189404	G	C	3189404	3	2	237	1	0	0	0	0	1	0	0	0	12025	1280	45	2	871	2	PITRM1	10	3189404	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08		3189404	132345343	109	43266											
SFMBT2	57713	broad.mit.edu	37	chr10	7409703	7409703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaccagaagtcggccctgCggtcctccccgtaaccgcag	8	5	10	18	4	0	1	0	0	0	1	3	1	2	1	6	2	2	2	6	2	2	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:7409703C>T	ENST00000361972.4	-	4	434	c.344G>A	c.(343-345)cGc>cAc	p.R115H	SFMBT2_ENST00000379711.2_Missense_Mutation_p.R115H|SFMBT2_ENST00000397167.1_Missense_Mutation_p.R115H|SFMBT2_ENST00000397160.3_Missense_Mutation_p.R115H|SFMBT2_ENST00000379713.3_Missense_Mutation_p.R115H	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	115					regulation of transcription, DNA-dependent	nucleus		p.R115H(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GTCGGCCCTGCGGTCCTCCCC	0.612													7	35					0	0	0	0	T	7409703	C	T	7409703	3	4	237	1	0	0	0	0	1	0	0	0	14245	768	27	1	2412	1	SFMBT2	10	7409703	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	4220299	7409703	128125044	110	43267											
GDF2	2658	broad.mit.edu	37	chr10	48414496	48414496	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctggaaggggaagtcCtctgtggcagttatggagat	8	12	15	6	0	2	1	0	0	2	1	3	4	3	3	1	5	1	3	1	5	3	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:48414496C>T	ENST00000249598.1	-	2	531	c.372G>A	c.(370-372)gaG>gaA	p.E124E		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	124					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						AGGGGAAGTCCTCTGTGGCAG	0.507													3	21					0	0	0	0	T	48414496	C	T	48414496	2	4	237	1	0	0	0	0	0	0	0	1	6365	680	24	4		4	GDF2	10	48414496	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	41004793	48414496	87120251	111	43268											
JMJD1C	221037	broad.mit.edu	37	chr10	64979732	64979732	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaactgggtttaggctGtctatgtcgtcctagaatta	9	14	11	7	1	1	2	0	1	1	2	3	3	2	2	1	2	1	2	1	2	6	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:64979732G>C	ENST00000399262.2	-	4	677	c.459C>G	c.(457-459)gaC>gaG	p.D153E	JMJD1C_ENST00000399251.1_5'UTR|JMJD1C_ENST00000542921.1_5'UTR|JMJD1C_ENST00000489372.2_Intron|JMJD1C_ENST00000402544.1_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	153					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGTTTAGGCTGTCTATGTCGT	0.423													17	70					0	0	0	0	C	64979732	G	C	64979732	3	2	237	1	0	0	0	0	1	0	0	0	8003	1368	48	4	7255	4	JMJD1C	10	64979732	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	16565236	64979732	70555015	112	43269											
LRRTM3	347731	broad.mit.edu	37	chr10	68857399	68857399	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catacgaccagcccacaataAgttactgtggggtgcatcat	12	9	9	11	1	1	0	1	0	0	0	1	1	1	0	2	2	4	2	2	2	4	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:68857399A>C	ENST00000361320.4	+	3	2169	c.1591A>C	c.(1591-1593)Agt>Cgt	p.S531R	CTNNA3_ENST00000494580.1_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	531						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCCCACAATAAGTTACTGTGG	0.418													9	87					0	0	0	0	C	68857399	A	C	68857399	3	2	237	1	0	0	0	0	1	0	0	0	9105	72	3	5	1601	5	LRRTM3	10	68857399	Missense_Mutation	SNP	A	TCGA-CV-5970-01A-11D-1683-08	3877667	68857399	66677348	113	43270											
ENTPD7	57089	broad.mit.edu	37	chr10	101439180	101439180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctggacatcaaacagatGagagaccgcaacagccaacc	15	5	9	12	1	1	3	1	1	0	2	1	5	1	4	3	1	5	2	3	1	3	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:101439180G>A	ENST00000370489.4	+	4	532	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	118						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TCAAACAGATGAGAGACCGCA	0.428													4	28					0	0	0	0	A	101439180	G	A	101439180	3	1	237	1	0	0	0	0	1	0	0	0	5182	1290	45	2	364	2	ENTPD7	10	101439180	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	32581781	101439180	34095567	114	43271											
ITPRIP	85450	broad.mit.edu	37	chr10	106075039	106075039	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccgagcttggtcttgccGcagatgcagctcaatgtgtc	6	11	11	13	2	2	1	1	0	1	1	4	2	3	1	3	1	4	4	3	1	1	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:106075039G>A	ENST00000278071.2	-	3	1223	c.771C>T	c.(769-771)tgC>tgT	p.C257C	ITPRIP_ENST00000358187.2_Silent_p.C257C|ITPRIP_ENST00000337478.1_Silent_p.C257C	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	257						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGGTCTTGCCGCAGATGCAGC	0.647													24	51					0	0	0	0	A	106075039	G	A	106075039	2	1	237	1	0	0	0	0	0	0	0	1	7976	1079	38	1		1	ITPRIP	10	106075039	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	4635859	106075039	29459708	115	43272											
COPB1	1315	broad.mit.edu	37	chr11	14490304	14490304	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgccagtaaactcagctGaaactgatcttccttgcagt	10	12	8	11	0	2	2	1	2	1	0	3	2	3	2	2	0	6	4	2	0	3	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:14490304G>A	ENST00000249923.3	-	16	2368	c.2068C>T	c.(2068-2070)Cag>Tag	p.Q690*	COPB1_ENST00000439561.2_Nonsense_Mutation_p.Q690*	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	690					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AAACTCAGCTGAAACTGATCT	0.423													18	149					0	0	0	0	A	14490304	G	A	14490304	4	1	237	1	0	0	0	0	0	1	0	0	3758	1299	45	2	821	2	COPB1	11	14490304	Nonsense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08		14490304	120516212	116	43273											
ELP4	26610	broad.mit.edu	37	chr11	31805046	31805046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctgtggcatgatggccGgaggcaagaagcacctggac	10	5	16	10	1	0	2	0	1	0	1	0	4	0	4	2	6	1	4	2	6	2	0	rs3026403		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:31805046G>A	ENST00000350638.5	+	10	1284	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	ELP4_ENST00000379163.5_Missense_Mutation_p.R464Q|ELP4_ENST00000395934.2_3'UTR	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	417					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CATGATGGCCGGAGGCAAGAA	0.498													3	74					0	0	0	0	A	31805046	G	A	31805046	3	1	237	1	0	0	0	0	1	0	0	0	5120	1117	39	1	1287	1	ELP4	11	31805046	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	17314742	31805046	103201470	117	43274											
OR4A15	81328	broad.mit.edu	37	chr11	55135812	55135812	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaatggcctatgatcgataCatggccatctgtaagcctct	10	12	9	10	1	2	1	0	1	2	0	3	2	2	1	3	2	2	2	3	2	4	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:55135812C>A	ENST00000314706.3	+	1	453	c.453C>A	c.(451-453)taC>taA	p.Y151*		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGATCGATACATGGCCATCT	0.438													35	154					4.3181e-19	4.74337e-19	1	0	A	55135812	C	A	55135812	4	1	237	1	0	0	0	0	0	1	0	0	11111	489	17	4	455	4	OR4A15	11	55135812	Nonsense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	23330766	55135812	79870704	118	43275											
OR5AS1	219447	broad.mit.edu	37	chr11	55798369	55798369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtacaacatcactggtcCatgtgtgcctcacattcagg	11	10	9	11	0	3	0	3	0	0	0	4	1	4	0	2	2	3	1	2	2	3	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:55798369C>T	ENST00000313555.1	+	1	475	c.475C>T	c.(475-477)Cat>Tat	p.H159Y		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATCACTGGTCCATGTGTGCCT	0.438													66	107					0	0	0	0	T	55798369	C	T	55798369	3	4	237	1	0	0	0	0	1	0	0	0	11217	594	21	4	477	4	OR5AS1	11	55798369	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	662557	55798369	79208147	119	43276											
CCDC88B	283234	broad.mit.edu	37	chr11	64120247	64120247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcccagcgggccagcGtggaggcacaggaggtggcc	7	3	19	12	2	0	0	0	0	0	0	0	2	0	2	3	7	3	2	3	7	0	0			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:64120247G>A	ENST00000356786.5	+	20	3432	c.3388G>A	c.(3388-3390)Gtg>Atg	p.V1130M	CCDC88B_ENST00000359902.2_Missense_Mutation_p.V282M|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1130					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGGGCCAGCGTGGAGGCACA	0.657													4	63					0	0	0	0	A	64120247	G	A	64120247	3	1	237	1	0	0	0	0	1	0	0	0	2891	1145	40	1	3466	1	CCDC88B	11	64120247	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	8321878	64120247	70886269	120	43277											
ATG2A	23130	broad.mit.edu	37	chr11	64678743	64678743	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagggggttgggggccatCttgcctgaggggacagaggc	7	6	21	7	0	1	2	0	1	1	1	1	4	1	4	2	8	1	1	2	8	0	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:64678743C>T	ENST00000421419.2	-	10	1347	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	ATG2A_ENST00000377264.3_Silent_p.K411K			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	411							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGGGGCCATCTTGCCTGAGG	0.632													28	46					0	0	0	0	T	64678743	C	T	64678743	2	4	237	1	0	0	0	0	0	0	0	1	1097	912	32	2		2	ATG2A	11	64678743	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	558496	64678743	70327773	121	43278											
NAALADL1	10004	broad.mit.edu	37	chr11	64825688	64825688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccaggtcctcatcccgagGgctggaggccaggtgtggct	6	7	15	13	1	1	0	1	0	0	0	3	2	3	1	4	6	0	2	4	6	0	0			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:64825688G>A	ENST00000358658.3	-	2	247	c.220C>T	c.(220-222)Cct>Tct	p.P74S	NAALADL1_ENST00000340252.4_Missense_Mutation_p.P74S|NAALADL1_ENST00000355721.3_Missense_Mutation_p.P74S|NAALADL1_ENST00000339885.2_Missense_Mutation_p.P74S|NAALADL1_ENST00000356632.3_Missense_Mutation_p.P74S|NAALADL1_ENST00000355369.2_Missense_Mutation_p.P74S	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	74					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCATCCCGAGGGCTGGAGGCC	0.677													5	40					0	0	0	0	A	64825688	G	A	64825688	3	1	237	1	0	0	0	0	1	0	0	0	10199	1232	43	4	2070	4	NAALADL1	11	64825688	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	146945	64825688	70180828	122	43279											
LRP5	4041	broad.mit.edu	37	chr11	68131338	68131338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaagcgcactggggggaaGaggaaggagatcctgagtgc	13	4	17	7	1	0	3	0	1	0	2	1	6	1	5	1	5	3	1	1	5	4	0	rs80358307		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:68131338G>A	ENST00000294304.7	+	4	916	c.810G>A	c.(808-810)aaG>aaA	p.K270K		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	270	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGGGGGAAGAGGAAGGAGA	0.652													7	63					0	0	0	0	A	68131338	G	A	68131338	2	1	237	1	0	0	0	0	0	0	0	1	9024	933	33	2		2	LRP5	11	68131338	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	3305650	68131338	66875178	123	43280											
CTTN	2017	broad.mit.edu	37	chr11	70281261	70281261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaactatgtggagctgcGgcagtagggcccccagcccc	8	5	13	15	1	0	0	0	0	0	0	0	1	0	1	5	3	5	3	5	3	3	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:70281261G>A	ENST00000346329.3	+	17	1843	c.1535G>A	c.(1534-1536)cGg>cAg	p.R512Q	CTTN_ENST00000376561.3_Intron|CTTN_ENST00000538675.1_Intron|CTTN_ENST00000301843.8_Missense_Mutation_p.R549Q	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	549	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GTGGAGCTGCGGCAGTAGGGC	0.597													11	36					0	0	0	0	A	70281261	G	A	70281261	3	1	237	1	0	0	0	0	1	0	0	0	4076	1116	39	1	1708	1	CTTN	11	70281261	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	2149923	70281261	64725255	124	43281											
ARHGEF17	9828	broad.mit.edu	37	chr11	73073640	73073640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctcgggcttggagatGacgccgggcctcggcgaggg	5	5	20	11	5	0	2	0	1	0	1	2	4	0	2	2	6	0	3	2	6	0	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:73073640G>T	ENST00000263674.3	+	14	5207	c.4857G>T	c.(4855-4857)atG>atT	p.M1619I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1619					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCTTGGAGATGACGCCGGGCC	0.692													4	38					0.0215528	0.0218542	1	0	T	73073640	G	T	73073640	3	4	237	1	0	0	0	0	1	0	0	0	902	1290	45	2	4911	2	ARHGEF17	11	73073640	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	2792379	73073640	61932876	125	43282											
MAP6	4135	broad.mit.edu	37	chr11	75299192	75299192	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgtggctacaggaccttGagtcttacttgaatcactga	9	13	9	10	0	3	3	1	3	2	0	3	4	3	4	1	2	2	1	1	2	3	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:75299192G>A	ENST00000304771.3	-	4	2104	c.1354C>T	c.(1354-1356)Caa>Taa	p.Q452*	MAP6_ENST00000526689.1_5'UTR|CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Nonsense_Mutation_p.Q123*	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	452						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACAGGACCTTGAGTCTTACTT	0.537													16	53					0	0	0	0	A	75299192	G	A	75299192	4	1	237	1	0	0	0	0	0	1	0	0	9333	1299	45	2	1091	2	MAP6	11	75299192	Nonsense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	2225552	75299192	59707324	126	43283											
INTS4	92105	broad.mit.edu	37	chr11	77590009	77590009	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgccttagcgccgtgcagGtttgggcattatataaactt	8	15	10	8	2	0	0	0	0	0	0	0	0	0	0	2	2	4	3	2	2	5	7			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:77590009G>C	ENST00000534064.1	-	23	2912	c.2878C>G	c.(2878-2880)Cct>Gct	p.P960A	AAMDC_ENST00000527134.1_Intron|AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.P335A	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	960					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CGCCGTGCAGGTTTGGGCATT	0.527													8	76					0	0	0	0	C	77590009	G	C	77590009	3	2	237	1	0	0	0	0	1	0	0	0	7833	1261	44	4	17	4	INTS4	11	77590009	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	2290817	77590009	57416507	127	43284											
CCDC89	220388	broad.mit.edu	37	chr11	85396236	85396236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcctcttgctcaaacCgctccagcgcatgcttcctg	6	10	7	18	2	2	0	1	0	1	0	4	0	4	0	5	0	5	4	5	0	1	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:85396236C>T	ENST00000316398.3	-	1	1084	c.938G>A	c.(937-939)cGg>cAg	p.R313Q		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	313						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TTGCTCAAACCGCTCCAGCGC	0.512													14	51					0	0	0	0	T	85396236	C	T	85396236	3	4	237	1	0	0	0	0	1	0	0	0	2893	652	23	1	190	1	CCDC89	11	85396236	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	7806227	85396236	49610280	128	43285											
EFCAB4B	84766	broad.mit.edu	37	chr12	3757747	3757747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagcccggccttctcaCgctgtagactctccgtcaca	7	9	10	15	3	3	2	2	1	2	1	5	3	3	3	3	2	1	2	3	2	1	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:3757747C>T	ENST00000440314.2	-	11	1552	c.1079G>A	c.(1078-1080)cGt>cAt	p.R360H	EFCAB4B_ENST00000252322.1_Missense_Mutation_p.R360H|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.R360H	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	360					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGCCTTCTCACGCTGTAGACT	0.622													5	36					0	0	0	0	T	3757747	C	T	3757747	3	4	237	1	0	0	0	0	1	0	0	0	4973	536	19	1	1348	1	EFCAB4B	12	3757747	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08		3757747	130094148	129	43286											
VWF	7450	broad.mit.edu	37	chr12	6135131	6135131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcccaaagtccacagggtCttcctccacttggaggttgc	7	11	10	13	0	1	0	0	0	1	0	5	1	5	1	4	3	1	2	4	3	1	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:6135131C>T	ENST00000261405.5	-	23	3303	c.3049G>A	c.(3049-3051)Gac>Aac	p.D1017N		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1017	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCACAGGGTCTTCCTCCACT	0.527													13	63					0	0	0	0	T	6135131	C	T	6135131	3	4	237	1	0	0	0	0	1	0	0	0	17342	913	32	2	5512	2	VWF	12	6135131	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	2377384	6135131	127716764	130	43287											
CHD4	1108	broad.mit.edu	37	chr12	6688057	6688057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagatctattgctgacttttCctccaccttctctacatcag	8	15	4	14	0	3	2	1	1	2	1	6	2	5	2	3	0	2	1	3	0	2	6			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:6688057C>T	ENST00000309577.6	-	33	5183	c.5020G>A	c.(5020-5022)Gaa>Aaa	p.E1674K	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Missense_Mutation_p.E1671K|CHD4_ENST00000357008.2_Missense_Mutation_p.E1646K|CHD4_ENST00000544040.1_Missense_Mutation_p.E1639K			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1646	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GCTGACTTTTCCTCCACCTTC	0.413													6	24					0	0	0	0	T	6688057	C	T	6688057	3	4	237	1	0	0	0	0	1	0	0	0	3356	864	30	2	830	2	CHD4	12	6688057	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	552926	6688057	127163838	131	43288											
CHD4	1108	broad.mit.edu	37	chr12	6690555	6690555	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctatttttatcccatcttCtgcagaacaataaaagacaa	15	13	3	10	0	3	2	0	0	3	2	4	2	4	2	1	0	2	1	1	0	7	6			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:6690555C>G	ENST00000309577.6	-	31	4929		c.e31-1		RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site|CHD4_ENST00000544040.1_Splice_Site			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATCCCATCTTCTGCAGAACAA	0.403													5	67					0	0	0	0	G	6690555	C	G	6690555	5	3	237	1	0	0	0	0	0	0	1	0	3356	927	32	2	1093	2	CHD4	12	6690555	Splice_Site	SNP	C	TCGA-CV-5970-01A-11D-1683-08	2498	6690555	127161340	132	43289											
TPI1	7167	broad.mit.edu	37	chr12	6979473	6979473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagctggccagccagcctGatgtggatggcttccttgtg	6	10	15	10	0	0	1	0	1	0	0	1	3	1	3	4	4	3	2	4	4	0	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:6979473G>A	ENST00000229270.4	+	7	1124	c.787G>A	c.(787-789)Gat>Aat	p.D263N	TPI1_ENST00000488464.2_Missense_Mutation_p.D144N|TPI1_ENST00000535434.1_Missense_Mutation_p.D144N|TPI1_ENST00000396705.5_Missense_Mutation_p.D226N	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	226					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CAGCCAGCCTGATGTGGATGG	0.572											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	24					0	0	0	0	A	6979473	G	A	6979473	3	1	237	1	0	0	0	0	1	0	0	0	16498	1290	45	2	813	2	TPI1	12	6979473	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	288918	6979473	126872422	133	43290											
PZP	5858	broad.mit.edu	37	chr12	9349219	9349219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagcttcatttcaaagccCgtatttgtaatctggagcat	11	14	7	9	1	3	0	2	0	1	0	3	1	3	1	1	1	3	4	1	1	4	6			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:9349219C>T	ENST00000261336.2	-	9	958	c.930G>A	c.(928-930)acG>acA	p.T310T	PZP_ENST00000381997.2_Silent_p.T179T	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTCAAAGCCCGTATTTGTAA	0.393													13	70					0	0	0	0	T	9349219	C	T	9349219	2	4	237	1	0	0	0	0	0	0	0	1	12951	639	23	1		1	PZP	12	9349219	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	2369746	9349219	124502676	134	43291											
BCL2L14	79370	broad.mit.edu	37	chr12	12232347	12232347	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaccagacatcatgtcttCaagagcacccctgctctctt	10	11	5	15	0	4	2	2	0	2	2	5	2	4	2	3	0	3	2	3	0	2	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:12232347C>G	ENST00000266434.4	+	2	303	c.108C>G	c.(106-108)ttC>ttG	p.F36L	BCL2L14_ENST00000308721.5_Missense_Mutation_p.F36L|BCL2L14_ENST00000589718.1_Missense_Mutation_p.F36L|BCL2L14_ENST00000396369.1_Missense_Mutation_p.F36L|BCL2L14_ENST00000586576.1_Missense_Mutation_p.F69L|BCL2L14_ENST00000396367.1_Missense_Mutation_p.F36L	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	36					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		ATCATGTCTTCAAGAGCACCC	0.493													13	38					0	0	0	0	G	12232347	C	G	12232347	3	3	237	1	0	0	0	0	1	0	0	0	1376	825	29	2	110	2	BCL2L14	12	12232347	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	2883128	12232347	121619548	135	43292											
SLCO1C1	53919	broad.mit.edu	37	chr12	20903736	20903736	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgtcttcaggtaccaaatCaaaagcattcccgcatctca	14	10	5	12	1	4	0	3	0	2	0	6	0	5	0	2	1	2	3	2	1	5	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:20903736C>G	ENST00000381552.1	+	14	2294	c.1926C>G	c.(1924-1926)atC>atG	p.I642M	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.I642M|SLCO1C1_ENST00000266509.2_Intron|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.I524M|SLCO1C1_ENST00000540354.1_Intron			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	0					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GGTACCAAATCAAAAGCATTC	0.378													6	43					0	0	0	0	G	20903736	C	G	20903736	3	3	237	1	0	0	0	0	1	0	0	0	14813	816	29	2	1976	2	SLCO1C1	12	20903736	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	8671389	20903736	112948159	136	43293											
PPFIBP1	8496	broad.mit.edu	37	chr12	27841992	27841992	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaacaatggctcagttattGaacatcccacccaataagac	16	8	6	11	0	1	2	1	1	0	1	2	3	2	2	2	1	2	2	2	1	6	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:27841992G>A	ENST00000318304.8	+	26	2842	c.2559G>A	c.(2557-2559)ttG>ttA	p.L853L	PPFIBP1_ENST00000537927.1_Silent_p.L700L|PPFIBP1_ENST00000228425.6_Silent_p.L847L|PPFIBP1_ENST00000542629.1_Silent_p.L822L	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	853	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CTCAGTTATTGAACATCCCAC	0.418													10	68					0	0	0	0	A	27841992	G	A	27841992	2	1	237	1	0	0	0	0	0	0	0	1	12384	1281	45	2		2	PPFIBP1	12	27841992	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	6938256	27841992	106009903	137	43294											
PRICKLE1	144165	broad.mit.edu	37	chr12	42853994	42854008	+	In_Frame_Del	DEL	TGTACAGCCGCAGTC	TGTACAGCCGCAGTC	-																															tttctcatagttatcgggggTgtacagccgcagtctgtcct																										TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:42853994_42854008delTGTACAGCCGCAGTC	ENST00000455697.1	-	8	2384_2398	c.2099_2113delGACTGCGGCTGTACA	c.(2098-2115)acc>a	p.RLRLYT700del	PRICKLE1_ENST00000548696.1_In_Frame_Del_p.RLRLYT700del|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_In_Frame_Del_p.RLRLYT700del|PRICKLE1_ENST00000345127.3_In_Frame_Del_p.RLRLYT700del|PRICKLE1_ENST00000445766.2_In_Frame_Del_p.RLRLYT700del	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	700					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTATCGGGGGTGTACAGCCGCAGTCTGTCCTTGGG	0.502													9	88	---	---	---	---					-	42854008	TGTACAGCCGCAGTC	-	42853994	7	5	237	1	0	1	0	1	0	0	0	0	12566	1696	59	0	386	0	PRICKLE1	12	42853994	In_Frame_Del	DEL	TGTACAGCCGCAGTC	TCGA-CV-5970-01A-11D-1683-08	15012002	42853994	90997901	138	43295											
ANO6	196527	broad.mit.edu	37	chr12	45810577	45810577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattggaaataagagtggacGcatggaaactgaccacccag	15	7	11	8	1	0	2	0	1	0	1	0	5	0	5	2	3	1	1	2	3	4	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:45810577G>A	ENST00000320560.8	+	17	2309	c.2107G>A	c.(2107-2109)Gca>Aca	p.A703T	ANO6_ENST00000425752.2_Missense_Mutation_p.A703T|ANO6_ENST00000423947.3_Missense_Mutation_p.A724T|ANO6_ENST00000441606.2_Missense_Mutation_p.A685T|ANO6_ENST00000435642.1_Missense_Mutation_p.A703T|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	703					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AAGAGTGGACGCATGGAAACT	0.483													9	28					0	0	0	0	A	45810577	G	A	45810577	3	1	237	1	0	0	0	0	1	0	0	0	700	1087	38	1	2193	1	ANO6	12	45810577	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	2956583	45810577	88041318	139	43296											
COL2A1	1280	broad.mit.edu	37	chr12	48367873	48367873	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcagccccactcaccGtgcagccatccttcagggca	7	7	9	18	1	3	0	2	0	1	0	4	0	4	0	5	2	3	3	5	2	0	1	rs121912886		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:48367873G>A	ENST00000380518.3	-	53	4480	c.4317_splice	c.e53+1	p.T1439_splice	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Splice_Site_p.T1370_splice	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1439	Fibrillar collagen NC1.		T -> M (in SEDC).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCCACTCACCGTGCAGCCATC	0.617													7	52					0	0	0	0	A	48367873	G	A	48367873	5	1	237	1	0	0	0	0	0	0	1	0	3717	1159	40	1	155	1	COL2A1	12	48367873	Splice_Site	SNP	G	TCGA-CV-5970-01A-11D-1683-08	2557296	48367873	85484022	140	43297											
LIMA1	51474	broad.mit.edu	37	chr12	50616056	50616056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacctgagtctagatctGgggtggatttgttcttcttg	5	16	14	6	0	4	3	0	2	4	1	4	4	4	4	1	4	0	1	1	4	1	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:50616056G>A	ENST00000341247.4	-	4	527	c.378C>T	c.(376-378)ccC>ccT	p.P126P	LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552823.1_5'UTR|LIMA1_ENST00000552783.1_5'UTR|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000394943.3_Silent_p.P126P	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	126					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GTCTAGATCTGGGGTGGATTT	0.512													11	60					0	0	0	0	A	50616056	G	A	50616056	2	1	237	1	0	0	0	0	0	0	0	1	8850	1335	47	4		4	LIMA1	12	50616056	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	2248183	50616056	83235839	141	43298											
KRT79	338785	broad.mit.edu	37	chr12	53227934	53227934	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccactgctccgagacacCgtcactgagctgaagctggt	8	8	11	14	2	1	3	1	2	0	1	2	4	2	3	3	1	4	3	3	1	1	0			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:53227934C>T	ENST00000330553.5	-	1	145	c.111G>A	c.(109-111)acG>acA	p.T37T		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	37	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCGAGACACCGTCACTGAGC	0.637													5	53					0	0	0	0	T	53227934	C	T	53227934	2	4	237	1	0	0	0	0	0	0	0	1	8544	639	23	1		1	KRT79	12	53227934	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	2611878	53227934	80623961	142	43299											
NAV3	89795	broad.mit.edu	37	chr12	78531084	78531084	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgggagtgccacttcTctggaggaaagacctcgtgc	7	11	13	10	1	1	1	0	0	1	1	3	4	1	4	2	3	2	0	2	3	1	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:78531084T>G	ENST00000397909.2	+	19	4742	c.4569T>G	c.(4567-4569)tcT>tcG	p.S1523S	NAV3_ENST00000266692.7_Silent_p.S1346S|NAV3_ENST00000228327.6_Silent_p.S1523S|NAV3_ENST00000536525.2_Silent_p.S1523S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1523	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTGCCACTTCTCTGGAGGAAA	0.512										HNSCC(70;0.22)			8	48					0	0	0	0	G	78531084	T	G	78531084	2	3	237	1	0	0	0	0	0	0	0	1	10255	1538	54	5		5	NAV3	12	78531084	Silent	SNP	T	TCGA-CV-5970-01A-11D-1683-08	25303150	78531084	55320811	143	43300											
LRRIQ1	84125	broad.mit.edu	37	chr12	85554449	85554449	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataaagtgtctcttccaaaAtcaccaaagatggtacagcc	16	9	6	10	0	2	1	1	0	1	1	4	1	3	1	3	1	2	1	3	1	7	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:85554449A>C	ENST00000393217.2	+	24	4840	c.4779A>C	c.(4777-4779)aaA>aaC	p.K1593N	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1593										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTCTTCCAAAATCACCAAAGA	0.343													5	58					0	0	0	0	C	85554449	A	C	85554449	3	2	237	1	0	0	0	0	1	0	0	0	9093	98	4	5	4873	5	LRRIQ1	12	85554449	Missense_Mutation	SNP	A	TCGA-CV-5970-01A-11D-1683-08	7023365	85554449	48297446	144	43301											
VEZT	55591	broad.mit.edu	37	chr12	95694420	95694420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaagaacaaataatagaaGaaaataaaaatgagatagaa	27	5	8	1	0	0	5	0	1	0	5	0	7	0	6	0	1	1	0	0	1	13	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:95694420G>C	ENST00000436874.1	+	12	2416	c.2311G>C	c.(2311-2313)Gaa>Caa	p.E771Q	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.E723Q	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	771						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AATAATAGAAGAAAATAAAAA	0.383													4	23					0	0	0	0	C	95694420	G	C	95694420	3	2	237	1	0	0	0	0	1	0	0	0	17252	943	33	2	2357	2	VEZT	12	95694420	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	10139971	95694420	38157475	145	43302											
NEDD1	121441	broad.mit.edu	37	chr12	97328772	97328772	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtctgttcggcacttgaagTactccttgtttaagaaatca	11	14	8	8	1	2	2	1	1	1	1	4	2	3	2	1	1	1	4	1	1	4	6			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:97328772T>C	ENST00000266742.4	+	7	847	c.508T>C	c.(508-510)Tac>Cac	p.Y170H	NEDD1_ENST00000557644.1_Missense_Mutation_p.Y177H|NEDD1_ENST00000411739.2_Missense_Mutation_p.Y81H|NEDD1_ENST00000555114.1_3'UTR|NEDD1_ENST00000429527.2_Missense_Mutation_p.Y170H|NEDD1_ENST00000457368.2_Missense_Mutation_p.Y81H	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	170				Y -> C (in Ref. 1; BAC04099).	cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GCACTTGAAGTACTCCTTGTT	0.328													13	75					0	0	0	0	C	97328772	T	C	97328772	3	2	237	1	0	0	0	0	1	0	0	0	10379	1638	57	5	551	5	NEDD1	12	97328772	Missense_Mutation	SNP	T	TCGA-CV-5970-01A-11D-1683-08	1634352	97328772	36523123	146	43303											
UBE3B	89910	broad.mit.edu	37	chr12	109972546	109972546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcctccgcgagaagctgCgctacgccatcagcatgaac	9	6	11	15	5	1	2	1	1	0	1	3	3	3	2	3	0	5	3	3	0	3	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:109972546C>T	ENST00000342494.3	+	28	3761	c.3166C>T	c.(3166-3168)Cgc>Tgc	p.R1056C	UBE3B_ENST00000434735.2_Missense_Mutation_p.R1056C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1056	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CGAGAAGCTGCGCTACGCCAT	0.642													9	51					0	0	0	0	T	109972546	C	T	109972546	3	4	237	1	0	0	0	0	1	0	0	0	16976	768	27	1	3268	1	UBE3B	12	109972546	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	12643774	109972546	23879349	147	43304											
RPLP0	6175	broad.mit.edu	37	chr12	120636693	120636693	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctggagattttagtggtGatacctaaagcctggaaaaa	13	10	10	8	0	0	2	0	1	0	1	0	4	0	3	4	3	2	0	4	3	6	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:120636693G>A	ENST00000551150.1	-	4	744	c.429C>T	c.(427-429)atC>atT	p.I143I	RPLP0_ENST00000392514.4_Silent_p.I143I|RPLP0_ENST00000228306.4_Silent_p.I143I|RPLP0_ENST00000546989.1_Silent_p.I143I|RPLP0_ENST00000313104.5_Silent_p.I143I|RPLP0_ENST00000550296.1_5'UTR			P05388	RLA0_HUMAN	ribosomal protein, large, P0	143					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTTAGTGGTGATACCTAAAG	0.552													5	32					0	0	0	0	A	120636693	G	A	120636693	2	1	237	1	0	0	0	0	0	0	0	1	13689	1280	45	2		2	RPLP0	12	120636693	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	10664147	120636693	13215202	148	43305											
GPR133	283383	broad.mit.edu	37	chr12	131498863	131498863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgggctctccactcattaCggtccacctcaagcacagat	9	9	8	15	2	3	1	2	0	1	1	6	1	4	1	3	2	2	2	3	2	2	1	rs149266247	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:131498863C>T	ENST00000261654.5	+	13	2010	c.1451C>T	c.(1450-1452)aCg>aTg	p.T484M	GPR133_ENST00000376682.4_Missense_Mutation_p.T170M|GPR133_ENST00000535015.1_Missense_Mutation_p.T516M	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	484					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCACTCATTACGGTCCACCTC	0.587													10	47					0	0	0	0	T	131498863	C	T	131498863	3	4	237	1	0	0	0	0	1	0	0	0	6692	536	19	1	1501	1	GPR133	12	131498863	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	10862170	131498863	2353032	149	43306											
PCDH17	27253	broad.mit.edu	37	chr13	58208055	58208055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactccaccaagtcgttcGcgatcaagattctagacgag	12	9	8	12	4	3	2	2	0	1	2	6	4	4	2	2	0	1	1	2	0	4	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr13:58208055G>T	ENST00000377918.3	+	1	1401	c.1375G>T	c.(1375-1377)Gcg>Tcg	p.A459S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	459	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAAGTCGTTCGCGATCAAGAT	0.607													3	19					2.56e-06	2.68986e-06	1	0	T	58208055	G	T	58208055	3	4	237	1	0	0	0	0	1	0	0	0	11583	1087	38	3	1377	3	PCDH17	13	58208055	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08		58208055	56961823	150	43307											
IPO5	3843	broad.mit.edu	37	chr13	98671904	98671904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagaaaatgtcaatgctaCagagaactgcatctcagcag	17	7	8	9	0	2	2	2	0	1	2	3	3	2	2	0	0	5	3	0	0	6	1	rs1804741		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr13:98671904C>T	ENST00000261574.5	+	27	3140	c.2960C>T	c.(2959-2961)aCa>aTa	p.T987I	IPO5_ENST00000539640.1_Missense_Mutation_p.T844I|IPO5_ENST00000490680.1_Missense_Mutation_p.T969I	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	969					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTCAATGCTACAGAGAACTGC	0.423													12	43					0	0	0	0	T	98671904	C	T	98671904	3	4	237	1	0	0	0	0	1	0	0	0	7849	478	17	4	3058	4	IPO5	13	98671904	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	40463849	98671904	16497974	151	43308											
GPR18	2841	broad.mit.edu	37	chr13	99907960	99907960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatatagatggttaccGtggttctcttcttggtggta	7	17	10	7	1	4	1	2	0	2	1	5	1	4	1	1	4	1	3	1	4	4	7			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr13:99907960G>A	ENST00000340807.3	-	3	723	c.167C>T	c.(166-168)aCg>aTg	p.T56M	UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.T56M|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.T56M			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	56						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	GATGGTTACCGTGGTTCTCTT	0.348													28	56					0	0	0	0	A	99907960	G	A	99907960	3	1	237	1	0	0	0	0	1	0	0	0	6724	1145	40	1	832	1	GPR18	13	99907960	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	1236056	99907960	15261918	152	43309											
PCID2	55795	broad.mit.edu	37	chr13	113832567	113832567	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctgaccaccagcttcTgatgctgatgcgatatgtag	8	12	11	10	1	1	3	0	3	1	0	1	4	1	3	2	0	4	5	2	0	2	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr13:113832567T>A	ENST00000375457.2	-	14	1735	c.1139A>T	c.(1138-1140)cAg>cTg	p.Q380L	PCID2_ENST00000246505.5_Missense_Mutation_p.Q436L|PCID2_ENST00000375459.1_Missense_Mutation_p.Q380L|PCID2_ENST00000351317.3_Missense_Mutation_p.Q359L|PCID2_ENST00000375477.1_Missense_Mutation_p.Q382L|PCID2_ENST00000375479.2_Missense_Mutation_p.Q382L|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000337344.4_Missense_Mutation_p.Q382L	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	382	PCI.				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CACCAGCTTCTGATGCTGATG	0.522													25	26					0	0	0	0	A	113832567	T	A	113832567	3	1	237	1	0	0	0	0	1	0	0	0	11650	1580	55	5	58	5	PCID2	13	113832567	Missense_Mutation	SNP	T	TCGA-CV-5970-01A-11D-1683-08	13924607	113832567	1337311	153	43310											
DHRS4	10901	broad.mit.edu	37	chr14	24424278	24424278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgcccggcgtttggcccagGacggggcccatgtggtcgtc	3	8	16	14	5	0	0	0	0	0	0	3	1	0	1	3	6	0	1	3	6	0	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:24424278G>T	ENST00000313250.5	+	2	366	c.163G>T	c.(163-165)Gac>Tac	p.D55Y	DHRS4_ENST00000382761.3_Missense_Mutation_p.D37Y|DHRS4_ENST00000421831.1_Missense_Mutation_p.D37Y|DHRS4_ENST00000543741.2_Missense_Mutation_p.D55Y|DHRS4_ENST00000559632.1_Missense_Mutation_p.D55Y|DHRS4_ENST00000558581.1_Missense_Mutation_p.D55Y|DHRS4_ENST00000308178.8_Missense_Mutation_p.D37Y|DHRS4_ENST00000397073.2_Missense_Mutation_p.D37Y|DHRS4_ENST00000397075.3_Missense_Mutation_p.D55Y|DHRS4_ENST00000397074.3_Missense_Mutation_p.D55Y|DHRS4_ENST00000558263.1_Missense_Mutation_p.D55Y	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	55						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TTTGGCCCAGGACGGGGCCCA	0.647													15	81					8.60227e-14	9.41381e-14	1	0	T	24424278	G	T	24424278	3	4	237	1	0	0	0	0	1	0	0	0	4529	1174	41	2	169	2	DHRS4	14	24424278	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08		24424278	82925262	154	43311											
CPNE6	9362	broad.mit.edu	37	chr14	24546188	24546188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaaccgtgtggctgagccGgcccagcgggagcagagcac	9	4	15	13	3	1	2	1	1	0	1	1	3	1	3	3	3	5	3	3	3	1	0			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:24546188G>A	ENST00000397016.2	+	15	1577	c.1266G>A	c.(1264-1266)ccG>ccA	p.P422P	CPNE6_ENST00000216775.2_Silent_p.P422P|CPNE6_ENST00000537691.1_Silent_p.P477P			O95741	CPNE6_HUMAN	copine VI (neuronal)	422	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TGGCTGAGCCGGCCCAGCGGG	0.637													5	24					0	0	0	0	A	24546188	G	A	24546188	2	1	237	1	0	0	0	0	0	0	0	1	3846	1103	39	1		1	CPNE6	14	24546188	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	121910	24546188	82803352	155	43312											
NEK9	91754	broad.mit.edu	37	chr14	75567725	75567725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatggtaaactcatcacCgcaggagaccctgatcactt	13	8	8	12	1	3	2	3	1	0	1	3	3	3	2	2	2	2	3	2	2	3	2	rs151072111		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:75567725C>T	ENST00000238616.5	-	16	2130	c.1972G>A	c.(1972-1974)Ggt>Agt	p.G658S		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	658					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AACTCATCACCGCAGGAGACC	0.517													21	33					0	0	0	0	T	75567725	C	T	75567725	3	4	237	1	0	0	0	0	1	0	0	0	10401	652	23	1	995	1	NEK9	14	75567725	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	51021537	75567725	31781815	156	43313											
ISM2	145501	broad.mit.edu	37	chr14	77942421	77942421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttgattaggaagtcgctCttgcagttcagccacttctc	8	14	8	11	1	3	1	1	1	2	0	5	2	3	2	1	1	3	3	1	1	3	6			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:77942421C>G	ENST00000393684.3	-	8	1360	c.969G>C	c.(967-969)aaG>aaC	p.K323N	ISM2_ENST00000342219.4_Missense_Mutation_p.K411N|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Missense_Mutation_p.K330N|ISM2_ENST00000412904.1_Missense_Mutation_p.K330N			Q6H9L7	ISM2_HUMAN	isthmin 2	411						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGAAGTCGCTCTTGCAGTTCA	0.612													9	46					0	0	0	0	G	77942421	C	G	77942421	3	3	237	1	0	0	0	0	1	0	0	0	7914	912	32	2	486	2	ISM2	14	77942421	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	2374696	77942421	29407119	157	43314											
TRPM1	4308	broad.mit.edu	37	chr15	31295039	31295039	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaagctgtagccatcagcGctattgatgctgctttgccg	8	12	10	11	2	1	1	1	1	0	0	1	1	1	1	2	0	7	5	2	0	4	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:31295039G>A	ENST00000542188.1	-	27	4228	c.3915C>T	c.(3913-3915)agC>agT	p.S1305S	TRPM1_ENST00000397795.2_Silent_p.S1266S|TRPM1_ENST00000256552.6_Silent_p.S1288S|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1266			R -> H (in dbSNP:rs13380059).		cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGCCATCAGCGCTATTGATGC	0.488													13	56					0	0	0	0	A	31295039	G	A	31295039	2	1	237	1	0	0	0	0	0	0	0	1	16680	1078	38	1		1	TRPM1	15	31295039	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08		31295039	71236353	158	43315											
ZNF592	9640	broad.mit.edu	37	chr15	85327115	85327115	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgatgatccaagtaaGtcccctgttgggtcacctct	8	12	9	12	0	2	2	1	2	1	0	5	3	5	2	5	1	0	2	5	1	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:85327115G>C	ENST00000299927.3	+	1	1231	c.1209G>C	c.(1207-1209)aaG>aaC	p.K403N	ZNF592_ENST00000560079.2_Missense_Mutation_p.K403N			Q92610	ZN592_HUMAN	zinc finger protein 592	403					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATCCAAGTAAGTCCCCTGTTG	0.532													6	33					0	0	0	0	C	85327115	G	C	85327115	3	2	237	1	0	0	0	0	1	0	0	0	18117	1020	36	4	1211	4	ZNF592	15	85327115	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	54032076	85327115	17204277	159	43316											
NTRK3	4916	broad.mit.edu	37	chr15	88483978	88483978	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctctcctcttaatgtgcTgcacatctgtaggatgggga	7	14	11	9	0	3	0	0	0	3	0	5	2	4	2	1	3	2	3	1	3	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:88483978T>C	ENST00000394480.1	-	15	1913	c.1592A>G	c.(1591-1593)cAg>cGg	p.Q531R	NTRK3_ENST00000558676.1_Missense_Mutation_p.Q523R|NTRK3_ENST00000355254.2_Missense_Mutation_p.Q531R|NTRK3_ENST00000542733.2_Missense_Mutation_p.Q433R|NTRK3_ENST00000360948.2_Missense_Mutation_p.Q531R|NTRK3_ENST00000557856.1_Missense_Mutation_p.Q523R|NTRK3_ENST00000357724.2_Missense_Mutation_p.Q523R	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	531					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTAATGTGCTGCACATCTGT	0.537			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			20	78					0	0	0	0	C	88483978	T	C	88483978	3	2	237	1	0	0	0	0	1	0	0	0	10779	1580	55	5	951	5	NTRK3	15	88483978	Missense_Mutation	SNP	T	TCGA-CV-5970-01A-11D-1683-08	3156863	88483978	14047414	160	43317											
HAPLN3	145864	broad.mit.edu	37	chr15	89424833	89424833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccatttgacacgcacaCgccgcggggagaccagggcc	9	4	12	16	4	0	2	0	1	0	1	1	3	1	2	5	3	0	1	5	3	0	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:89424833C>T	ENST00000359595.3	-	3	462	c.248G>A	c.(247-249)cGt>cAt	p.R83H	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R145H	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	83	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GACACGCACACGCCGCGGGGA	0.657													20	58					0	0	0	0	T	89424833	C	T	89424833	3	4	237	1	0	0	0	0	1	0	0	0	7006	536	19	1	846	1	HAPLN3	15	89424833	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	940855	89424833	13106559	161	43318											
SYNM	23336	broad.mit.edu	37	chr15	99672905	99672905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttagcagacagcagcagaaCgctaaggcacattgcaccag	14	5	11	11	1	0	2	0	0	0	2	0	2	0	2	1	1	5	7	1	1	3	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:99672905C>T	ENST00000336292.6	+	5	4457	c.4337C>T	c.(4336-4338)aCg>aTg	p.T1446M	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1447	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGCAGCAGAACGCTAAGGCAC	0.542													33	114					0	0	0	0	T	99672905	C	T	99672905	3	4	237	1	0	0	0	0	1	0	0	0	15546	536	19	1	4353	1	SYNM	15	99672905	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	10248072	99672905	2858487	162	43319											
MEF2A	4205	broad.mit.edu	37	chr15	100250868	100250868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagcgctgacctgtcaGcccttcaaggcttcaactcg	8	9	9	15	2	3	2	3	2	0	0	4	2	3	2	3	1	3	2	3	1	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:100250868G>T	ENST00000354410.5	+	10	1650	c.1021G>T	c.(1021-1023)Gcc>Tcc	p.A341S	MEF2A_ENST00000558812.1_Missense_Mutation_p.A279S|MEF2A_ENST00000557785.1_Missense_Mutation_p.A339S|MEF2A_ENST00000338042.6_Missense_Mutation_p.A348S|MEF2A_ENST00000557942.1_Missense_Mutation_p.A347S|MEF2A_ENST00000449277.2_Missense_Mutation_p.A271S|MEF2A_ENST00000453228.2_Missense_Mutation_p.A339S	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	349					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	p.A349S(1)|p.A339S(1)|p.A341S(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGACCTGTCAGCCCTTCAAGG	0.527													4	20					0.00909568	0.00928784	1	0	T	100250868	G	T	100250868	3	4	237	1	0	0	0	0	1	0	0	0	9524	971	34	4	1215	4	MEF2A	15	100250868	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	577963	100250868	2280524	163	43320											
MSLN	10232	broad.mit.edu	37	chr16	818647	818647	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcacccctctctctgtaGaggccctctcggggacgccc	5	8	11	17	2	4	1	1	0	3	1	6	3	4	2	4	3	0	1	4	3	1	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:818647G>T	ENST00000566549.1	+	17	2200		c.e17-1		MSLN_ENST00000382862.3_Splice_Site|MSLN_ENST00000545450.2_Splice_Site|MSLN_ENST00000563941.1_Splice_Site			Q13421	MSLN_HUMAN	mesothelin						cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TCTCTCTGTAGAGGCCCTCTC	0.697													12	52					4.3838e-07	4.63979e-07	1	0	T	818647	G	T	818647	5	4	237	1	0	0	0	0	0	0	1	0	9951	956	33	2	1869	2	MSLN	16	818647	Splice_Site	SNP	G	TCGA-CV-5970-01A-11D-1683-08		818647	89536106	164	43321											
GRIN2A	2903	broad.mit.edu	37	chr16	9934948	9934948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttcacattcatcccctCattggttgaattgctgtaaa	9	17	5	10	0	4	1	3	1	1	0	5	1	5	1	2	1	1	3	2	1	3	7			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:9934948C>T	ENST00000396573.2	-	7	1651	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	GRIN2A_ENST00000396575.2_Missense_Mutation_p.E448K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E448K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E291K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E448K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E448K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	448					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCATCCCCTCATTGGTTGAA	0.408													14	60					0	0	0	0	T	9934948	C	T	9934948	3	4	237	1	0	0	0	0	1	0	0	0	6829	835	29	2	3084	2	GRIN2A	16	9934948	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	9116301	9934948	80419805	165	43322											
SH2B1	25970	broad.mit.edu	37	chr16	28883644	28883644	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcggcactggctcccaCggtgtcttcctggtgcgcca	4	9	13	15	3	1	0	0	0	1	0	3	0	3	0	3	5	1	2	3	5	0	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:28883644C>T	ENST00000337120.5	+	6	4938	c.1647C>T	c.(1645-1647)caC>caT	p.H549H	SH2B1_ENST00000359285.5_Silent_p.H549H|SH2B1_ENST00000395532.4_Silent_p.H549H|SH2B1_ENST00000322610.8_Silent_p.H549H|SH2B1_ENST00000538342.1_Silent_p.H213H|SH2B1_ENST00000545570.1_Silent_p.H239H|SH2B1_ENST00000563674.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	549	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CTGGCTCCCACGGTGTCTTCC	0.622													10	37					0	0	0	0	T	28883644	C	T	28883644	2	4	237	1	0	0	0	0	0	0	0	1	14314	535	19	1		1	SH2B1	16	28883644	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	18948696	28883644	61471109	166	43323											
VKORC1	79001	broad.mit.edu	37	chr16	31105715	31105715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctcgcactcttatttcGaacaccagtatcgctgggta	8	13	8	12	3	1	0	0	0	1	0	4	1	1	0	2	1	2	4	2	1	4	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:31105715G>T	ENST00000394971.3	-	1	155	c.108C>A	c.(106-108)ttC>ttA	p.F36L	VKORC1_ENST00000394975.2_Intron|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000498155.1_Intron|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000319788.7_Intron|VKORC1_ENST00000300851.6_Intron			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CTCTTATTTCGAACACCAGTA	0.602													4	54					0.00024832	0.000257189	1	0	T	31105715	G	T	31105715	3	4	237	1	0	0	0	0	1	0	0	0	17268	1073	37	3		3	VKORC1	16	31105715	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	2222071	31105715	59249038	167	43324											
NKD1	85407	broad.mit.edu	37	chr16	50583366	50583366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgagcgctgcctgggctcGgaagggcatcgaggagtgga	7	6	19	9	4	0	1	0	1	0	0	2	5	0	4	1	5	2	3	1	5	1	0			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:50583366G>A	ENST00000268459.3	+	3	316	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	NKD1_ENST00000564336.1_3'UTR	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	31					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GCCTGGGCTCGGAAGGGCATC	0.692													6	21					0	0	0	0	A	50583366	G	A	50583366	3	1	237	1	0	0	0	0	1	0	0	0	10511	1116	39	1	102	1	NKD1	16	50583366	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	19477651	50583366	39771387	168	43325											
CNGB1	1258	broad.mit.edu	37	chr16	58001097	58001097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccacctccgcctccatctCtggctctggttccacttcct	3	14	5	19	1	2	0	0	0	2	0	8	0	7	0	7	2	0	2	7	2	0	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:58001097C>G	ENST00000564448.1	-	2	154	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	CNGB1_ENST00000251102.8_Missense_Mutation_p.E32Q|CNGB1_ENST00000311183.4_Missense_Mutation_p.E32Q			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	32	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCTCCATCTCTGGCTCTGGT	0.637													10	45					0	0	0	0	G	58001097	C	G	58001097	3	3	237	1	0	0	0	0	1	0	0	0	3630	922	32	2	3819	2	CNGB1	16	58001097	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	7417731	58001097	32353656	169	43326											
CDH11	1009	broad.mit.edu	37	chr16	65032724	65032724	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccctgagagaatgtatttAatgttcccatcaccagagtc	11	12	7	11	0	1	3	1	1	0	2	4	4	3	3	4	0	0	2	4	0	3	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:65032724A>G	ENST00000394156.3	-	4	717	c.264T>C	c.(262-264)atT>atC	p.I88I	CDH11_ENST00000268603.4_Silent_p.I88I|CDH11_ENST00000566827.1_5'UTR			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	88	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GAATGTATTTAATGTTCCCAT	0.408			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			7	36					0	0	0	0	G	65032724	A	G	65032724	2	3	237	1	0	0	0	0	0	0	0	1	3126	358	13	5		5	CDH11	16	65032724	Silent	SNP	A	TCGA-CV-5970-01A-11D-1683-08	7031627	65032724	25322029	170	43327											
NFATC3	4775	broad.mit.edu	37	chr16	68200760	68200760	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttagtattgattgtgcagGtattttgaaactccgcaatt	10	17	8	6	1	0	2	0	2	0	0	1	2	1	2	1	1	2	4	1	1	5	9			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:68200760G>C	ENST00000349223.5	+	5	1840	c.1616G>C	c.(1615-1617)gGt>gCt	p.G539A	NFATC3_ENST00000575270.1_Missense_Mutation_p.G539A|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.G539A|NFATC3_ENST00000329524.4_Missense_Mutation_p.G539A	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	539	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GATTGTGCAGGTATTTTGAAA	0.299													7	19					0	0	0	0	C	68200760	G	C	68200760	3	2	237	1	0	0	0	0	1	0	0	0	10434	1261	44	4	1634	4	NFATC3	16	68200760	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	3168036	68200760	22153993	171	43328											
HYDIN	54768	broad.mit.edu	37	chr16	70952161	70952162	+	Frame_Shift_Ins	INS	-	-	T																															tctgattctatttccatttcINSttttttttcatccagagata																										TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:70952161_70952162insT	ENST00000393567.2	-	47	8106_8107	c.7956_7957insA	c.(7954-7959)aaaaatfs	p.N2653fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2653										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTTCCATTTCTTTTTTTTCAT	0.45													2	4	---	---	---	---					T	70952162	-	T	70952161	7	5	237	1	0	1	1	0	0	0	0	0	7520	922	32	0	7568	0	HYDIN	16	70952161	Frame_Shift_Ins	INS	-	TCGA-CV-5970-01A-11D-1683-08	2751401	70952161	19402592	172	43329											
ADAMTS18	170692	broad.mit.edu	37	chr16	77325197	77325197	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaataccatccagctaccAtgttgtacactggatgggct	11	11	9	10	0	0	1	0	1	0	0	1	2	1	2	3	2	4	4	3	2	4	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:77325197A>C	ENST00000282849.5	-	21	3786	c.3368T>G	c.(3367-3369)aTg>aGg	p.M1123R		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1123	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCCAGCTACCATGTTGTACAC	0.502													16	86					0	0	0	0	C	77325197	A	C	77325197	3	2	237	1	0	0	0	0	1	0	0	0	263	217	8	5	309	5	ADAMTS18	16	77325197	Missense_Mutation	SNP	A	TCGA-CV-5970-01A-11D-1683-08	6373036	77325197	13029556	173	43330											
WFDC1	58189	broad.mit.edu	37	chr16	84353096	84353096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctctgtccctcgggctatGagtgccacatcctgagccca	6	10	10	15	1	1	2	0	2	1	0	4	2	3	2	4	1	3	2	4	1	1	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:84353096G>A	ENST00000219454.5	+	4	807	c.481G>A	c.(481-483)Gag>Aag	p.E161K	WFDC1_ENST00000568638.1_Missense_Mutation_p.E161K			Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	161					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTCGGGCTATGAGTGCCACAT	0.667													13	36					0	0	0	0	A	84353096	G	A	84353096	3	1	237	1	0	0	0	0	1	0	0	0	17442	1291	45	2	495	2	WFDC1	16	84353096	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	7027899	84353096	6001657	174	43331											
FOXL1	2300	broad.mit.edu	37	chr16	86612542	86612542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccgagcagagggtcacGctcaacggcatctaccagtt	9	6	12	14	4	3	1	2	0	1	1	3	2	3	1	2	2	3	4	2	2	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:86612542G>A	ENST00000320241.3	+	1	428	c.213G>A	c.(211-213)acG>acA	p.T71T		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	71					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						AGAGGGTCACGCTCAACGGCA	0.642													27	72					0	0	0	0	A	86612542	G	A	86612542	2	1	237	1	0	0	0	0	0	0	0	1	6063	1074	38	1		1	FOXL1	16	86612542	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	2259446	86612542	3742211	175	43332											
DEF8	54849	broad.mit.edu	37	chr16	90016035	90016035	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacgccgcgggcaggacGcgggaggccaggtccgtgca	6	3	19	13	6	1	0	1	0	0	0	2	2	2	2	3	6	1	2	3	6	0	0			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:90016035G>A	ENST00000268676.7	+	2	251	c.162G>A	c.(160-162)acG>acA	p.T54T	DEF8_ENST00000567874.1_Intron|DEF8_ENST00000418391.2_Intron|DEF8_ENST00000563594.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000563795.1_Intron	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	54					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CGGGCAGGACGCGGGAGGCCA	0.677													10	48					0	0	0	0	A	90016035	G	A	90016035	2	1	237	1	0	0	0	0	0	0	0	1	4419	1074	38	1		1	DEF8	16	90016035	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	3403493	90016035	338718	176	43333											
ZNF232	7775	broad.mit.edu	37	chr17	5009153	5009153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttctggcatgaactctcCgatgtctaatgagctctgag	8	14	9	10	1	4	3	0	3	4	0	5	4	4	3	1	1	2	2	1	1	2	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:5009153C>T	ENST00000250076.3	-	5	1955	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q	ZNF232_ENST00000575898.1_Missense_Mutation_p.R425Q	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	407					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						ATGAACTCTCCGATGTCTAAT	0.433													16	67					0	0	0	0	T	5009153	C	T	5009153	3	4	237	1	0	0	0	0	1	0	0	0	17880	652	23	1	37	1	ZNF232	17	5009153	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08		5009153	76186057	177	43334											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	16					0	0	0	0	T	7577538	C	T	7577538	3	4	237	1	0	0	0	0	1	0	0	0	16476	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	2568385	7577538	73617672	178	43335											
RAB34	83871	broad.mit.edu	37	chr17	27045165	27045165	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaattggtgatggggaatcGgagactgctgcgcagcatct	9	9	15	8	3	1	2	0	1	1	1	2	5	1	3	0	4	3	3	0	4	2	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:27045165G>C	ENST00000447716.1	-	1	121	c.121C>G	c.(121-123)Cga>Gga	p.R41G	RAB34_ENST00000450529.1_5'UTR|RAB34_ENST00000415040.2_5'UTR|RAB34_ENST00000436730.3_5'UTR|RAB34_ENST00000301043.6_5'UTR|RAB34_ENST00000453384.3_Missense_Mutation_p.R41G	NM_001142624.2|NM_001144943.1	NP_001136096.2|NP_001138415.1	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					ATGGGGAATCGGAGACTGCTG	0.632													5	12					0	0	0	0	C	27045165	G	C	27045165	3	2	237	1	0	0	0	0	1	0	0	0	13006	1124	39	3	940	3	RAB34	17	27045165	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	19467627	27045165	54150045	179	43336											
CCL2	6347	broad.mit.edu	37	chr17	32583342	32583342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatcaccagcagcaagtgtCccaaagaagctgtgatgtga	14	7	11	9	0	1	3	1	2	0	1	2	4	2	3	2	0	3	3	2	0	4	0			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:32583342C>A	ENST00000225831.4	+	2	243	c.178C>A	c.(178-180)Ccc>Acc	p.P60T	CCL2_ENST00000580907.1_Missense_Mutation_p.P60T	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	60					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	CAGCAAGTGTCCCAAAGAAGC	0.493													14	30					1.3612e-06	1.43545e-06	1	0	A	32583342	C	A	32583342	3	1	237	1	0	0	0	0	1	0	0	0	2918	855	30	2	184	2	CCL2	17	32583342	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	5538177	32583342	48611868	180	43337											
GSDMB	55876	broad.mit.edu	37	chr17	38073560	38073560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtgatttcctcaaataCgctgaacattgcgcctggac	9	13	8	11	2	2	2	1	2	1	0	3	3	3	3	2	1	3	1	2	1	3	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:38073560C>T	ENST00000394175.2	-	1	233	c.10G>A	c.(10-12)Gta>Ata	p.V4I	GSDMB_ENST00000309481.7_Missense_Mutation_p.V4I|GSDMB_ENST00000418519.1_Missense_Mutation_p.V4I|GSDMB_ENST00000520542.1_Missense_Mutation_p.V4I|GSDMB_ENST00000394179.1_Missense_Mutation_p.V4I|GSDMB_ENST00000360317.3_Missense_Mutation_p.V4I	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	4						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TCCTCAAATACGCTGAACATT	0.433													18	47					0	0	0	0	T	38073560	C	T	38073560	3	4	237	1	0	0	0	0	1	0	0	0	6867	536	19	1	1280	1	GSDMB	17	38073560	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	5490218	38073560	43121650	181	43338											
MAP3K14	9020	broad.mit.edu	37	chr17	43368116	43368116	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccatcactgccatctccCaggcttgtgctcatcctgag	6	13	7	15	0	3	1	2	1	1	0	6	1	5	1	4	1	2	2	4	1	0	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:43368116C>A	ENST00000344686.2	-	0	104							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGCCATCTCCCAGGCTTGTGC	0.592													13	82					6.31663e-08	6.73464e-08	1	0	A	43368116	C	A	43368116	1	1	237	0	1	0	0	0	0	0	0	0	9317	609	21	4		4	MAP3K14	17	43368116	RNA	SNP	C	TCGA-CV-5970-01A-11D-1683-08	5294556	43368116	37827094	182	43339											
RPS6KB1	6198	broad.mit.edu	37	chr17	57990070	57990070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaacattgtgagaaatttGaaatctcagaaactagtgtg	15	12	10	4	0	1	3	1	2	1	2	2	5	1	4	0	1	2	0	0	1	5	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:57990070G>A	ENST00000225577.4	+	3	238	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RPS6KB1_ENST00000406116.3_Missense_Mutation_p.E73K|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.E73K|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.E20K	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	73					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGAGAAATTTGAAATCTCAGA	0.373													17	115					0	0	0	0	A	57990070	G	A	57990070	3	1	237	1	0	0	0	0	1	0	0	0	13741	1291	45	2	227	2	RPS6KB1	17	57990070	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	14621954	57990070	23205140	183	43340											
EIF4A3	9775	broad.mit.edu	37	chr17	78120703	78120703	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactttagtcatgtcttcctCtttgagcagccgctttcgcg	5	15	8	13	3	3	1	1	1	2	0	5	1	4	1	2	0	2	2	2	0	1	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:78120703C>G	ENST00000269349.3	-	1	279	c.58G>C	c.(58-60)Gag>Cag	p.E20Q		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	20					mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			ATGTCTTCCTCTTTGAGCAGC	0.647													5	38					0	0	0	0	G	78120703	C	G	78120703	3	3	237	1	0	0	0	0	1	0	0	0	5064	922	32	2	1225	2	EIF4A3	17	78120703	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	20130633	78120703	3074507	184	43341											
RPTOR	57521	broad.mit.edu	37	chr17	78938109	78938109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactacatctccgtgtactcGgtggagaagcgtgtcagata	10	11	11	9	3	2	2	1	0	1	2	4	3	2	2	1	2	4	1	1	2	5	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:78938109G>A	ENST00000306801.3	+	34	4349	c.3987G>A	c.(3985-3987)tcG>tcA	p.S1329S	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.S1171S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1329					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCGTGTACTCGGTGGAGAAGC	0.652													19	36					0	0	0	0	A	78938109	G	A	78938109	2	1	237	1	0	0	0	0	0	0	0	1	13750	1103	39	1		1	RPTOR	17	78938109	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	817406	78938109	2257101	185	43342											
ADCYAP1	116	broad.mit.edu	37	chr18	908272	908272	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcctccccgttagagatgtCgcccacgggatccttaacga	8	9	10	14	4	0	1	0	0	0	1	3	4	2	2	5	1	2	1	5	1	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:908272C>G	ENST00000579794.1	+	3	527	c.249C>G	c.(247-249)gtC>gtG	p.V83V	ADCYAP1_ENST00000450565.3_Silent_p.V83V	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	83					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TTAGAGATGTCGCCCACGGGA	0.677													3	20					0	0	0	0	G	908272	C	G	908272	2	3	237	1	0	0	0	0	0	0	0	1	302	871	31	3		3	ADCYAP1	18	908272	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08		908272	77168976	186	43343											
ASXL3	80816	broad.mit.edu	37	chr18	31325516	31325516	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagcaaaagcggctgctcCcctcgtgtagcttccagcag	10	7	10	14	2	0	0	0	0	0	0	3	0	2	0	3	1	6	6	3	1	4	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:31325516C>G	ENST00000269197.5	+	12	5704	c.5704C>G	c.(5704-5706)Ccc>Gcc	p.P1902A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1902					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCGGCTGCTCCCCTCGTGTAG	0.498													6	93					0	0	0	0	G	31325516	C	G	31325516	3	3	237	1	0	0	0	0	1	0	0	0	1072	623	22	4	5750	4	ASXL3	18	31325516	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	30417244	31325516	46751732	187	43344											
SETBP1	26040	broad.mit.edu	37	chr18	42529990	42529990	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaccaactctgacagcGgacccgtcactcagaattgc	10	7	9	15	2	3	2	2	1	1	1	4	3	4	3	3	2	3	0	3	2	2	1	rs143196787		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:42529990G>T	ENST00000282030.5	+	4	981	c.685G>T	c.(685-687)Gga>Tga	p.G229*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	229						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTCTGACAGCGGACCCGTCAC	0.547									Schinzel-Giedion syndrome				7	44					0.000157383	0.000163588	1	0	T	42529990	G	T	42529990	4	4	237	1	0	0	0	0	0	1	0	0	14216	1117	39	3	888	3	SETBP1	18	42529990	Nonsense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	11204474	42529990	35547258	188	43345											
CXXC1	30827	broad.mit.edu	37	chr18	47811188	47811188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggtccaggaatggggactCttctgtgtcgctcatccagg	6	10	15	10	1	3	0	1	0	2	0	6	2	5	2	2	6	0	1	2	6	1	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:47811188C>T	ENST00000285106.6	-	8	1648	c.934G>A	c.(934-936)Gag>Aag	p.E312K	CXXC1_ENST00000412036.2_Missense_Mutation_p.E312K|CXXC1_ENST00000589940.1_Missense_Mutation_p.E312K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	312	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						AATGGGGACTCTTCTGTGTCG	0.587													4	18					0	0	0	0	T	47811188	C	T	47811188	3	4	237	1	0	0	0	0	1	0	0	0	4129	922	32	2	1080	2	CXXC1	18	47811188	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	5281198	47811188	30266060	189	43346			1	63		2	2	14	C		9.574218e-05
CXXC1	30827	broad.mit.edu	37	chr18	47811201	47811201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggactcttctgtgtcgctCatccagggctgcaagcaggg	6	9	15	11	1	3	0	1	0	2	0	5	1	4	1	1	4	2	4	1	4	1	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:47811201C>T	ENST00000285106.6	-	8	1635	c.921G>A	c.(919-921)atG>atA	p.M307I	CXXC1_ENST00000412036.2_Missense_Mutation_p.M307I|CXXC1_ENST00000589940.1_Missense_Mutation_p.M307I	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	307	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CTGTGTCGCTCATCCAGGGCT	0.587													5	17					0	0	0	0	T	47811201	C	T	47811201	3	4	237	1	0	0	0	0	1	0	0	0	4129	826	29	2	1093	2	CXXC1	18	47811201	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	13	47811201	30266047	190	43347			1	63		2	2	14	C		9.574218e-05
CCDC68	80323	broad.mit.edu	37	chr18	52571634	52571634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaataaggggaaacaccttcGgtcttcaattcactgtagaa	15	10	8	8	1	3	1	2	0	1	1	4	2	3	2	1	3	1	1	1	3	6	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:52571634G>A	ENST00000591504.1	-	12	1237	c.963C>T	c.(961-963)acC>acT	p.T321T	CCDC68_ENST00000337363.4_Silent_p.T321T|CCDC68_ENST00000432185.1_Silent_p.T321T	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	321										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AAACACCTTCGGTCTTCAATT	0.368													7	23					0	0	0	0	A	52571634	G	A	52571634	2	1	237	1	0	0	0	0	0	0	0	1	2867	1103	39	1		1	CCDC68	18	52571634	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	4760433	52571634	25505614	191	43348											
MBD3	53615	broad.mit.edu	37	chr19	1581180	1581180	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttctccacggcggccgaGagctgtcccgtgatgggcat	5	10	13	13	4	2	2	0	1	2	1	4	3	3	2	3	3	1	2	3	3	0	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:1581180G>C	ENST00000590550.2	-	4	793	c.420C>G	c.(418-420)ctC>ctG	p.L140L	MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000592012.1_Silent_p.L164L|MBD3_ENST00000156825.1_Silent_p.L196L|MBD3_ENST00000434436.3_Silent_p.L196L			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	196					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCGGCCGAGAGCTGTCCCG	0.652													5	14					0	0	0	0	C	1581180	G	C	1581180	2	2	237	1	0	0	0	0	0	0	0	1	9413	929	33	2		2	MBD3	19	1581180	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08		1581180	57547803	192	43349											
TNFSF14	8740	broad.mit.edu	37	chr19	6670018	6670018	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcttcgtcccagcctcgtGaatgggatgtcggtctgtcc	4	12	13	12	3	1	1	0	1	1	0	6	2	3	2	3	3	1	1	3	3	1	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:6670018G>A	ENST00000326176.9	-	2	444	c.63C>T	c.(61-63)ttC>ttT	p.F21F	TNFSF14_ENST00000599359.1_Silent_p.F21F|TNFSF14_ENST00000245912.3_Silent_p.F21F	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	21					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCAGCCTCGTGAATGGGATGT	0.642													19	80					0	0	0	0	A	6670018	G	A	6670018	2	1	237	1	0	0	0	0	0	0	0	1	16401	1281	45	2		2	TNFSF14	19	6670018	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	5088838	6670018	52458965	193	43350											
NDUFA7	4701	broad.mit.edu	37	chr19	8381382	8381382	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgctggagatcctcacctCtctgctggcttgcctgacac	6	10	10	15	1	2	2	1	1	1	1	4	3	3	2	3	2	3	3	3	2	0	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:8381382C>G	ENST00000301457.2	-	3	286	c.249G>C	c.(247-249)gaG>gaC	p.E83D	NDUFA7_ENST00000598884.1_Missense_Mutation_p.E83D	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	83					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	ATCCTCACCTCTCTGCTGGCT	0.587													15	82					0	0	0	0	G	8381382	C	G	8381382	3	3	237	1	0	0	0	0	1	0	0	0	10340	912	32	2	100	2	NDUFA7	19	8381382	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	1711364	8381382	50747601	194	43351											
KEAP1	9817	broad.mit.edu	37	chr19	10610149	10610149	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgctcagcgaagttggcGatgccgatggcattgctggg	7	10	15	9	3	2	0	1	0	1	0	2	3	2	0	1	3	4	4	1	3	1	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:10610149G>A	ENST00000171111.5	-	2	1108	c.561C>T	c.(559-561)atC>atT	p.I187I	KEAP1_ENST00000393623.2_Silent_p.I187I|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	187	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGAAGTTGGCGATGCCGATGG	0.592													4	44					0	0	0	0	A	10610149	G	A	10610149	2	1	237	1	0	0	0	0	0	0	0	1	8193	1048	37	1		1	KEAP1	19	10610149	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	2228767	10610149	48518834	195	43352											
ZNF653	115950	broad.mit.edu	37	chr19	11598248	11598248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccactgccggggacacCgctgcctgctgccatgttga	6	8	12	15	2	0	1	0	1	0	0	1	2	1	2	5	2	4	3	5	2	0	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:11598248C>T	ENST00000293771.5	-	4	1166	c.1030G>A	c.(1030-1032)Ggt>Agt	p.G344S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G344C(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CCGGGGACACCGCTGCCTGCT	0.657													26	24					0	0	0	0	T	11598248	C	T	11598248	3	4	237	1	0	0	0	0	1	0	0	0	18161	652	23	1	841	1	ZNF653	19	11598248	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	988099	11598248	47530735	196	43353											
SYCE2	256126	broad.mit.edu	37	chr19	13029104	13029104	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctccttgctctccccCaagggctgcggttcctggtc	3	11	12	15	1	1	0	0	0	1	0	5	1	3	1	4	4	3	4	4	4	1	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:13029104C>A	ENST00000293695.7	-	2	81	c.63G>T	c.(61-63)ttG>ttT	p.L21F		NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	21					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TGCTCTCCCCCAAGGGCTGCG	0.602													13	41					1.05317e-09	1.12701e-09	1	0	A	13029104	C	A	13029104	3	1	237	1	0	0	0	0	1	0	0	0	15520	593	21	4	613	4	SYCE2	19	13029104	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	1430856	13029104	46099879	197	43354											
B3GNT3	10331	broad.mit.edu	37	chr19	17922878	17922878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgagatgctgctcatgtggGatgcgctgaaccagcccaac	10	8	12	11	1	1	2	1	2	0	1	1	4	1	3	2	1	6	3	2	1	2	0			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:17922878G>A	ENST00000318683.6	+	3	1213	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	B3GNT3_ENST00000595387.1_Missense_Mutation_p.D356N	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	356					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCTCATGTGGGATGCGCTGAA	0.587													21	45					0	0	0	0	A	17922878	G	A	17922878	3	1	237	1	0	0	0	0	1	0	0	0	1262	1174	41	2	1072	2	B3GNT3	19	17922878	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	4893774	17922878	41206105	198	43355											
LSM4	25804	broad.mit.edu	37	chr19	18420497	18420497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagacccacctcggccagCgccgcccatgccgcggcctt	5	4	13	19	5	0	1	0	0	0	1	1	2	0	1	7	3	2	0	7	3	0	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:18420497C>T	ENST00000593829.1	-	4	572	c.319G>A	c.(319-321)Gct>Act	p.A107T	LSM4_ENST00000252816.5_Missense_Mutation_p.A93T	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	107					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(3)	6						CCTCGGCCAGCGCCGCCCATG	0.682													9	40					0	0	0	0	T	18420497	C	T	18420497	3	4	237	1	0	0	0	0	1	0	0	0	9122	768	27	1	108	1	LSM4	19	18420497	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	497619	18420497	40708486	199	43356											
HAPLN4	404037	broad.mit.edu	37	chr19	19372352	19372352	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccagagcgcgccgggaccGagggccgcccgagcgcacac	7	0	16	18	7	0	1	0	0	0	1	0	4	0	2	5	2	2	1	5	2	0	0			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:19372352G>A	ENST00000291481.7	-	2	87	c.24C>T	c.(22-24)ctC>ctT	p.L8L	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	8					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CGCCGGGACCGAGGGCCGCCC	0.766													4	10					0	0	0	0	A	19372352	G	A	19372352	2	1	237	1	0	0	0	0	0	0	0	1	7007	1045	37	1		1	HAPLN4	19	19372352	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	951855	19372352	39756631	200	43357											
C19orf47	126526	broad.mit.edu	37	chr19	40842076	40842076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcacccaccacggtcaCgcccagctcattcattatct	9	10	6	16	2	5	0	4	0	1	0	5	1	5	0	3	1	1	1	3	1	1	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:40842076C>T	ENST00000582783.1	-	4	286	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	C19orf47_ENST00000392035.2_Missense_Mutation_p.V25M	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	92										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			ACCACGGTCACGCCCAGCTCA	0.572													6	41					0	0	0	0	T	40842076	C	T	40842076	3	4	237	1	0	0	0	0	1	0	0	0	1948	536	19	1	1018	1	C19orf47	19	40842076	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	21469724	40842076	18286907	201	43358											
CEACAM6	4680	broad.mit.edu	37	chr19	42260722	42260722	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaagctaccccagggccCgcatacagtggtcgagagac	12	4	11	14	2	0	1	0	0	0	1	1	3	0	1	3	2	4	2	3	2	4	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:42260722C>T	ENST00000199764.6	+	2	497	c.279C>T	c.(277-279)ccC>ccT	p.P93P	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	93	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCCCAGGGCCCGCATACAGTG	0.458													72	103					0	0	0	0	T	42260722	C	T	42260722	2	4	237	1	0	0	0	0	0	0	0	1	3225	639	23	1		1	CEACAM6	19	42260722	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	1418646	42260722	16868261	202	43359											
PSG1	5669	broad.mit.edu	37	chr19	43382154	43382154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggatcctgcgtcctccCgggtgacattctggatcagc	6	11	12	12	2	2	1	1	1	1	0	5	3	5	3	3	3	2	1	3	3	1	2	rs142473373		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:43382154C>T	ENST00000244296.2	-	2	478	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	PSG1_ENST00000595356.1_Missense_Mutation_p.R114Q|PSG1_ENST00000436291.2_Missense_Mutation_p.R114Q|PSG1_ENST00000403380.3_Missense_Mutation_p.R114Q|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595124.1_Missense_Mutation_p.R114Q|PSG1_ENST00000312439.6_Missense_Mutation_p.R114Q	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGCGTCCTCCCGGGTGACATT	0.453													149	136					0	0	0	0	T	43382154	C	T	43382154	3	4	237	1	0	0	0	0	1	0	0	0	12732	652	23	1	991	1	PSG1	19	43382154	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	1121432	43382154	15746829	203	43360											
HIF3A	64344	broad.mit.edu	37	chr19	46832529	46832529	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggatgatgacttccagctCaacgccagcgagcagctacc	11	7	10	13	2	1	2	1	2	0	0	2	4	2	3	3	1	6	3	3	1	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:46832529C>G	ENST00000339613.2	+	12	1593	c.1338C>G	c.(1336-1338)ctC>ctG	p.L446L	HIF3A_ENST00000600383.1_Silent_p.L433L|HIF3A_ENST00000300862.3_Silent_p.L500L|HIF3A_ENST00000472815.1_Intron|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000420102.2_Silent_p.L451L|HIF3A_ENST00000244303.6_Silent_p.L433L|HIF3A_ENST00000377670.4_Silent_p.L502L			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ACTTCCAGCTCAACGCCAGCG	0.632													17	81					0	0	0	0	G	46832529	C	G	46832529	2	3	237	1	0	0	0	0	0	0	0	1	7155	813	29	2		2	HIF3A	19	46832529	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	3450375	46832529	12296454	204	43361											
NUCB1	4924	broad.mit.edu	37	chr19	49422529	49422529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggagtttggggacaccGgggagggctgggaggtgaga	9	5	23	4	1	0	1	0	1	0	1	0	7	0	6	1	9	0	2	1	9	1	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:49422529G>A	ENST00000405315.4	+	10	1322	c.988G>A	c.(988-990)Ggg>Agg	p.G330R	NUCB1_ENST00000263273.5_Missense_Mutation_p.G330R|NUCB1_ENST00000407032.1_Missense_Mutation_p.G330R|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	330						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TGGGGACACCGGGGAGGGCTG	0.577													6	37					0	0	0	0	A	49422529	G	A	49422529	3	1	237	1	0	0	0	0	1	0	0	0	10789	1116	39	1	1022	1	NUCB1	19	49422529	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	2590000	49422529	9706454	205	43362											
CCDC155	147872	broad.mit.edu	37	chr19	49910549	49910549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaagagacaccatcctctCtgaggtaaggggccccggga	11	5	12	13	1	1	2	0	1	1	1	3	4	2	3	5	4	0	1	5	4	2	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:49910549C>T	ENST00000447857.3	+	11	1134	c.929C>T	c.(928-930)tCt>tTt	p.S310F		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	310						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						ACCATCCTCTCTGAGGTAAGG	0.572													3	21					0	0	0	0	T	49910549	C	T	49910549	3	4	237	1	0	0	0	0	1	0	0	0	2814	913	32	2	967	2	CCDC155	19	49910549	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	488020	49910549	9218434	206	43363											
NAPSA	9476	broad.mit.edu	37	chr19	50861932	50861932	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcggtcgaagacggccacatAcgtccccaagaagacgtcac	12	4	11	14	5	1	3	1	0	0	3	3	4	2	3	3	2	1	0	3	2	4	1	rs138846093		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:50861932A>T	ENST00000253719.2	-	9	1349	c.1141T>A	c.(1141-1143)Tat>Aat	p.Y381N	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	381					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		ACGGCCACATACGTCCCCAAG	0.677													4	13					0	0	0	0	T	50861932	A	T	50861932	3	4	237	1	0	0	0	0	1	0	0	0	10236	391	14	5	125	5	NAPSA	19	50861932	Missense_Mutation	SNP	A	TCGA-CV-5970-01A-11D-1683-08	951383	50861932	8267051	207	43364											
ZNF667	63934	broad.mit.edu	37	chr19	56953259	56953259	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaataagggttgaaagccGcctgaagaacttgtcacatt	14	9	10	8	1	1	4	1	2	0	2	1	4	1	4	2	1	2	1	2	1	5	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:56953259G>T	ENST00000504904.3	-	7	1824	c.1105C>A	c.(1105-1107)Cgg>Agg	p.R369R	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Silent_p.R369R|ZNF667_ENST00000342634.3_Silent_p.R497R			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTTGAAAGCCGCCTGAAGAAC	0.378													24	24					7.92952e-12	8.64497e-12	1	0	T	56953259	G	T	56953259	2	4	237	1	0	0	0	0	0	0	0	1	18169	1086	38	3		3	ZNF667	19	56953259	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	6091327	56953259	2175724	208	43365											
COMMD7	149951	broad.mit.edu	37	chr20	31291246	31291246	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcaggaagctgtagaactGaggcaaggttaattctgggg	11	9	16	5	0	1	2	0	1	1	1	1	3	1	3	0	5	3	5	0	5	5	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:31291246G>C	ENST00000446419.1	-	9	1154	c.538C>G	c.(538-540)Cag>Gag	p.Q180E	COMMD7_ENST00000278980.6_Missense_Mutation_p.Q181E	NM_001099339.1	NP_001092809.1	Q86VX2	COMD7_HUMAN	COMM domain containing 7	181	COMM.				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding			breast(1)|endometrium(1)|lung(3)	5						CTGTAGAACTGAGGCAAGGTT	0.478													7	46					0	0	0	0	C	31291246	G	C	31291246	3	2	237	1	0	0	0	0	1	0	0	0	3751	1299	45	2	65	2	COMMD7	20	31291246	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08		31291246	31734274	209	43366											
EIF2S2	8894	broad.mit.edu	37	chr20	32685311	32685311	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcttttttgttgtcttCatcttctagagctacagata	9	19	5	8	0	6	2	2	0	4	2	6	2	6	2	0	0	2	2	0	0	3	9			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:32685311C>A	ENST00000374980.2	-	5	666	c.445G>T	c.(445-447)Gaa>Taa	p.E149*		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	149						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TTGTTGTCTTCATCTTCTAGA	0.413													5	36					0.0215528	0.0218542	1	0	A	32685311	C	A	32685311	4	1	237	1	0	0	0	0	0	1	0	0	5046	835	29	2	576	2	EIF2S2	20	32685311	Nonsense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	1394065	32685311	30340209	210	43367											
GSS	2937	broad.mit.edu	37	chr20	33529522	33529522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcacacccttacttgggtGagccgtagagctcccaggct	7	11	10	13	1	1	2	1	1	0	1	2	2	2	2	3	2	3	3	3	2	2	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:33529522G>A	ENST00000216951.2	-	6	700	c.602C>T	c.(601-603)tCa>tTa	p.S201L	GSS_ENST00000541098.1_Missense_Mutation_p.S73L|GSS_ENST00000451957.2_Intron	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	201					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TTACTTGGGTGAGCCGTAGAG	0.483													11	63					0	0	0	0	A	33529522	G	A	33529522	3	1	237	1	0	0	0	0	1	0	0	0	6879	1294	45	2	854	2	GSS	20	33529522	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	844211	33529522	29495998	211	43368											
SEMG1	6406	broad.mit.edu	37	chr20	43836743	43836743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatataacaagaatcaacacCagacaaaaaatctcaatcaa	23	7	2	9	0	3	2	3	0	1	2	4	2	3	2	1	0	2	0	1	0	11	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:43836743C>G	ENST00000372781.3	+	2	862	c.805C>G	c.(805-807)Cag>Gag	p.Q269E	SEMG1_ENST00000244069.6_Missense_Mutation_p.Q269E	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GAATCAACACCAGACAAAAAA	0.398													9	63					0	0	0	0	G	43836743	C	G	43836743	3	3	237	1	0	0	0	0	1	0	0	0	14131	595	21	4	811	4	SEMG1	20	43836743	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	10307221	43836743	19188777	212	43369											
BMP7	655	broad.mit.edu	37	chr20	55777625	55777625	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtcaaacaccagccaGccctcctccgaggcccagag	10	5	10	16	1	1	2	1	1	0	1	3	3	3	2	6	1	3	0	6	1	1	0			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:55777625G>A	ENST00000395863.3	-	3	1171	c.666C>T	c.(664-666)ggC>ggT	p.G222G	BMP7_ENST00000450594.2_Silent_p.G222G|BMP7_ENST00000395864.3_Silent_p.G222G|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	222					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ACACCAGCCAGCCCTCCTCCG	0.627													9	35					0	0	0	0	A	55777625	G	A	55777625	2	1	237	1	0	0	0	0	0	0	0	1	1470	958	34	4		4	BMP7	20	55777625	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	11940882	55777625	7247895	213	43370											
DSCAM	1826	broad.mit.edu	37	chr21	41416162	41416162	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctggcatagcggtttctCgctgtgggcccagccttggc	3	11	15	12	2	1	0	0	0	1	0	2	0	1	0	2	5	2	4	2	5	1	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr21:41416162C>T	ENST00000400454.1	-	31	5703	c.5226G>A	c.(5224-5226)gcG>gcA	p.A1742A		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1742					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.A1742A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCGGTTTCTCGCTGTGGGCC	0.602													8	24					0	0	0	0	T	41416162	C	T	41416162	2	4	237	1	0	0	0	0	0	0	0	1	4804	871	31	1		1	DSCAM	21	41416162	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08		41416162	6713733	214	43371											
TMPRSS2	7113	broad.mit.edu	37	chr21	42861456	42861456	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttccagagtaggccagcGgccagcgcagctcccacgag	10	4	12	15	3	0	1	0	0	0	1	2	2	2	1	4	2	4	3	4	2	2	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr21:42861456G>A	ENST00000398585.3	-	4	474	c.414C>T	c.(412-414)gcC>gcT	p.A138A	TMPRSS2_ENST00000458356.1_Silent_p.A101A|TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000332149.5_Silent_p.A101A	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	101	LDL-receptor class A.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GTAGGCCAGCGGCCAGCGCAG	0.592			T	"ERG, ETV1, ETV4, ETV5"	prostate								14	30					0	0	0	0	A	42861456	G	A	42861456	2	1	237	1	0	0	0	0	0	0	0	1	16341	1103	39	1		1	TMPRSS2	21	42861456	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	1445294	42861456	5268439	215	43372											
ADARB1	104	broad.mit.edu	37	chr21	46596022	46596022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcaaaactccatgctgctGagaaggccttgaggtctttc	10	10	11	10	0	1	2	0	2	1	1	3	3	2	2	2	3	3	3	2	3	3	2			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr21:46596022G>A	ENST00000539173.1	+	4	841	c.406G>A	c.(406-408)Gag>Aag	p.E136K	ADARB1_ENST00000360697.3_Missense_Mutation_p.E136K|ADARB1_ENST00000348831.4_Missense_Mutation_p.E136K|ADARB1_ENST00000389863.4_Missense_Mutation_p.E136K|ADARB1_ENST00000437626.1_Intron	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	136	DRBM 1.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CCATGCTGCTGAGAAGGCCTT	0.542													9	43					0	0	0	0	A	46596022	G	A	46596022	3	1	237	1	0	0	0	0	1	0	0	0	282	1291	45	2	412	2	ADARB1	21	46596022	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	3734566	46596022	1533873	216	43373											
PRAME	23532	broad.mit.edu	37	chr22	22892745	22892745	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccgtaaatccagcacttgaAgtttccacctcctgtgggga	9	11	9	12	1	0	1	0	1	0	0	4	2	4	2	5	2	1	3	5	2	3	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:22892745A>C	ENST00000543184.1	-	4	1218	c.356T>G	c.(355-357)cTt>cGt	p.L119R	PRAME_ENST00000398743.2_Missense_Mutation_p.L119R|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000398741.1_Missense_Mutation_p.L119R|PRAME_ENST00000405655.3_Missense_Mutation_p.L119R|PRAME_ENST00000424204.2_Missense_Mutation_p.L103R|PRAME_ENST00000402697.1_Missense_Mutation_p.L119R|PRAME_ENST00000539862.1_Missense_Mutation_p.L103R	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	119					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAGCACTTGAAGTTTCCACCT	0.438													8	60					0	0	0	0	C	22892745	A	C	22892745	3	2	237	1	0	0	0	0	1	0	0	0	12500	72	3	5	1181	5	PRAME	22	22892745	Missense_Mutation	SNP	A	TCGA-CV-5970-01A-11D-1683-08		22892745	28411821	217	43374											
HSCB	150274	broad.mit.edu	37	chr22	29139936	29139936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcaactgcagcgtcttgtCcacccagatttcttcagcca	9	10	7	15	1	3	1	1	0	2	1	4	1	4	1	3	0	5	2	3	0	1	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:29139936C>T	ENST00000216027.3	+	2	368	c.303C>T	c.(301-303)gtC>gtT	p.V101V	HSCB_ENST00000495977.1_3'UTR|HSCB_ENST00000398941.2_Silent_p.V101V	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	101	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						AGCGTCTTGTCCACCCAGATT	0.483													14	91					0	0	0	0	T	29139936	C	T	29139936	2	4	237	1	0	0	0	0	0	0	0	1	7424	842	30	2		2	HSCB	22	29139936	Silent	SNP	C	TCGA-CV-5970-01A-11D-1683-08	6247191	29139936	22164630	218	43375											
RFPL2	10739	broad.mit.edu	37	chr22	32586995	32586995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccactcgctgtaacttgcGgtctacgaagaggaaagtca	11	8	10	12	3	2	1	1	0	1	1	3	3	2	2	2	2	3	2	2	2	4	3			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:32586995G>A	ENST00000400236.3	-	5	1836	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Missense_Mutation_p.R211C|RFPL2_ENST00000248980.4_Missense_Mutation_p.R240C|RFPL2_ENST00000400237.1_Missense_Mutation_p.R301C	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	301	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGTAACTTGCGGTCTACGAAG	0.517													12	38					0	0	0	0	A	32586995	G	A	32586995	3	1	237	1	0	0	0	0	1	0	0	0	13336	1116	39	1	239	1	RFPL2	22	32586995	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	3447059	32586995	18717571	219	43376											
TAB1	10454	broad.mit.edu	37	chr22	39826084	39826084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagcagcagctccagctctGacggaggcctcttccgctcc	7	7	11	16	2	2	2	0	1	2	1	5	3	5	3	4	2	4	5	4	2	0	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:39826084G>A	ENST00000216160.6	+	11	1434	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	458					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CTCCAGCTCTGACGGAGGCCT	0.627													7	86					0	0	0	0	A	39826084	G	A	39826084	3	1	237	1	0	0	0	0	1	0	0	0	15586	1290	45	2	1414	2	TAB1	22	39826084	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	7239089	39826084	11478482	220	43377											
EFCAB6	64800	broad.mit.edu	37	chr22	44079707	44079707	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taactttgtgatgatgttttCcttgtgagattcatttctag	8	20	8	5	0	2	3	1	3	1	1	3	4	3	3	1	0	1	1	1	0	2	8			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:44079707C>A	ENST00000262726.7	-	12	1424	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.E239*	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATGATGTTTTCCTTGTGAGAT	0.343													21	91					1.28384e-07	1.36379e-07	1	0	A	44079707	C	A	44079707	4	1	237	1	0	0	0	0	0	1	0	0	4975	864	30	2	3418	2	EFCAB6	22	44079707	Nonsense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	4253623	44079707	7224859	221	43378											
TUBGCP6	85378	broad.mit.edu	37	chr22	50660299	50660299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcagggcccggagacGtgacctgaaacacaggtgac	10	5	15	11	2	1	4	1	3	0	1	1	5	1	4	2	4	2	1	2	4	1	0			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:50660299G>A	ENST00000439308.2	-	16	2981	c.2489C>T	c.(2488-2490)aCg>aTg	p.T830M	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T830M	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	830					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCCGGAGACGTGACCTGAAA	0.622													6	32					0	0	0	0	A	50660299	G	A	50660299	3	1	237	1	0	0	0	0	1	0	0	0	16866	1145	40	1	3010	1	TUBGCP6	22	50660299	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08	6580592	50660299	644267	222	43379											
SBF1	6305	broad.mit.edu	37	chr22	50898068	50898068	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggcgttgtcctggacactCtggggcacgatcagcagccc	7	7	14	13	2	2	0	1	0	1	0	3	2	3	1	2	4	2	3	2	4	0	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:50898068C>G	ENST00000380817.2	-	27	3702	c.3519G>C	c.(3517-3519)caG>caC	p.Q1173H	SBF1_ENST00000348911.6_Missense_Mutation_p.Q1174H|SBF1_ENST00000390679.3_Missense_Mutation_p.Q1173H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1173	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCTGGACACTCTGGGGCACGA	0.701													3	33					0	0	0	0	G	50898068	C	G	50898068	3	3	237	1	0	0	0	0	1	0	0	0	13944	912	32	2	2222	2	SBF1	22	50898068	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	237769	50898068	406498	223	43380											
SHROOM2	357	broad.mit.edu	37	chrX	9863269	9863269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacagccccctctgtgctGacagccttgggcaggagcca	8	6	11	16	0	1	1	0	1	1	0	1	2	1	2	5	2	4	2	5	2	0	1			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chrX:9863269G>A	ENST00000380913.3	+	4	1411	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	441					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCTCTGTGCTGACAGCCTTGG	0.652													18	16					0	0	0	0	A	9863269	G	A	9863269	3	1	237	1	0	0	0	0	1	0	0	0	14382	1290	45	2	1335	2	SHROOM2	23	9863269	Missense_Mutation	SNP	G	TCGA-CV-5970-01A-11D-1683-08		9863269	145407291	224	43381											
SCML2	10389	broad.mit.edu	37	chrX	18283829	18283829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctgacctgctgtgttggtAatattagagtagttttctgt	7	18	10	6	0	1	2	0	1	1	1	2	2	2	2	2	1	1	5	2	1	4	7			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chrX:18283829A>G	ENST00000251900.4	-	8	983	c.824T>C	c.(823-825)tTa>tCa	p.L275S	SCML2_ENST00000398048.3_Missense_Mutation_p.L11S	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	275					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CTGTGTTGGTAATATTAGAGT	0.418													13	27					0	0	0	0	G	18283829	A	G	18283829	3	3	237	1	0	0	0	0	1	0	0	0	13997	372	13	5	1310	5	SCML2	23	18283829	Missense_Mutation	SNP	A	TCGA-CV-5970-01A-11D-1683-08	8420560	18283829	136986731	225	43382											
CXorf58	254158	broad.mit.edu	37	chrX	23928433	23928433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggaaaatgaatcgttcctCaaatgtaccacgtaaaggta	16	9	9	7	2	1	1	1	1	0	0	3	2	2	2	2	2	1	4	2	2	8	4			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chrX:23928433C>T	ENST00000379211.3	+	2	563	c.14C>T	c.(13-15)tCa>tTa	p.S5L		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	5										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AATCGTTCCTCAAATGTACCA	0.348													7	10					0	0	0	0	T	23928433	C	T	23928433	3	4	237	1	0	0	0	0	1	0	0	0	4146	838	29	2	16	2	CXorf58	23	23928433	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	5644604	23928433	131342127	226	43383											
BRS3	680	broad.mit.edu	37	chrX	135572633	135572633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tactgaggaacaaagccatgCccgtaagcaggtatgtatta	14	9	10	8	1	0	1	0	1	0	0	0	2	0	2	2	2	5	4	2	2	7	5			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chrX:135572633C>T	ENST00000370648.3	+	2	1004	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	259					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CAAAGCCATGCCCGTAAGCAG	0.388													3	42					0	0	0	0	T	135572633	C	T	135572633	3	4	237	1	0	0	0	0	1	0	0	0	1530	739	26	4	782	4	BRS3	23	135572633	Missense_Mutation	SNP	C	TCGA-CV-5970-01A-11D-1683-08	111644200	135572633	19697927	227	43384											
AFF2	2334	broad.mit.edu	37	chrX	147924495	147924495	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattattccttataggaatcGcagcatctgaccccaggatt	11	13	7	10	1	1	1	0	1	1	0	3	3	2	3	3	2	1	2	3	2	5	6	rs149177157	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chrX:147924495G>A	ENST00000370460.2	+	6	1658	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	AFF2_ENST00000342251.3_Silent_p.S360S|AFF2_ENST00000286437.5_Silent_p.S34S|AFF2_ENST00000370457.5_Silent_p.S360S|AFF2_ENST00000370458.1_Silent_p.S360S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	393					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TATAGGAATCGCAGCATCTGA	0.343													41	23					0	0	0	0	A	147924495	G	A	147924495	2	1	237	1	0	0	0	0	0	0	0	1	357	1074	38	1		1	AFF2	23	147924495	Silent	SNP	G	TCGA-CV-5970-01A-11D-1683-08	12351862	147924495	7346065	228	43385											
CELSR2	1952	broad.mit.edu	37	chr1	109794178	109794178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtctctggcttggtgacaGtacaggtcctggatatcaac	9	12	11	9	0	2	1	1	1	1	0	4	2	3	2	1	4	2	2	1	4	3	3			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr1:109794178G>A	ENST00000271332.3	+	1	1538	c.1477G>A	c.(1477-1479)Gta>Ata	p.V493I		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	493	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTTGGTGACAGTACAGGTCCT	0.567													4	183					0	0	0	0	A	109794178	G	A	109794178	3	1	238	1	0	0	0	0	1	0	0	0	3251	1029	36	4	1479	4	CELSR2	1	109794178	Missense_Mutation	SNP	G	TCGA-CV-5971-01A-11D-1683-08		109794178	139456443	1	43386											
FLG	2312	broad.mit.edu	37	chr1	152286334	152286334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagtgcccatgactggctCtgtcttcatcatgggacctg	7	11	11	12	0	4	2	2	1	2	1	4	3	4	3	2	2	1	1	2	2	0	1			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr1:152286334C>T	ENST00000368799.1	-	3	1063	c.1028G>A	c.(1027-1029)aGa>aAa	p.R343K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	343	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACTGGCTCTGTCTTCATC	0.562									Ichthyosis				10	238					0	0	0	0	T	152286334	C	T	152286334	3	4	238	1	0	0	0	0	1	0	0	0	5967	913	32	2	11161	2	FLG	1	152286334	Missense_Mutation	SNP	C	TCGA-CV-5971-01A-11D-1683-08	42492156	152286334	96964287	2	43387											
CFHR2	3080	broad.mit.edu	37	chr1	196918742	196918742	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttggactcgcataacgtgCgcagaagaaggatggtcacc	11	9	12	9	3	1	2	1	0	0	2	2	4	1	4	1	3	2	2	1	3	3	3			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr1:196918742C>T	ENST00000367415.4	+	2	330	c.216C>T	c.(214-216)tgC>tgT	p.C72C	CFHR2_ENST00000367421.3_Silent_p.C72C|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	72	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GCATAACGTGCGCAGAAGAAG	0.408													4	40					0	0	0	0	T	196918742	C	T	196918742	2	4	238	1	0	0	0	0	0	0	0	1	3314	776	27	1		1	CFHR2	1	196918742	Silent	SNP	C	TCGA-CV-5971-01A-11D-1683-08	44632408	196918742	52331879	3	43388											
LAMB3	3914	broad.mit.edu	37	chr1	209803116	209803116	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaatggaagctcccgggcgCcggttccggaaatagtgcag	9	7	15	10	4	0	1	0	1	0	0	2	3	2	3	3	4	2	3	3	4	4	2			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr1:209803116C>A	ENST00000391911.1	-	9	1487	c.1098G>T	c.(1096-1098)cgG>cgT	p.R366R	LAMB3_ENST00000356082.4_Silent_p.R366R|LAMB3_ENST00000367030.3_Silent_p.R366R	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	366	Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCCCGGGCGCCGGTTCCGGA	0.582													4	53					0.00909568	0.0107127	1	0	A	209803116	C	A	209803116	2	1	238	1	0	0	0	0	0	0	0	1	8665	726	26	4		4	LAMB3	1	209803116	Silent	SNP	C	TCGA-CV-5971-01A-11D-1683-08	12884374	209803116	39447505	4	43389											
ATAD2B	54454	broad.mit.edu	37	chr2	24046267	24046267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagacatcacagcacgttgGgaagcaggcacgatattctg	13	7	12	9	2	2	1	1	0	1	1	2	4	2	2	0	2	2	4	0	2	3	3			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr2:24046267G>A	ENST00000238789.5	-	16	2335	c.1992C>T	c.(1990-1992)tcC>tcT	p.S664S	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	664							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCACGTTGGGAAGCAGGCA	0.453													3	28					0	0	0	0	A	24046267	G	A	24046267	2	1	238	1	0	0	0	0	0	0	0	1	1076	1219	43	4		4	ATAD2B	2	24046267	Silent	SNP	G	TCGA-CV-5971-01A-11D-1683-08		24046267	219153106	5	43390											
C2orf16	84226	broad.mit.edu	37	chr2	27804893	27804893	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagccgtcacagtctcttGgagaggagccatcgcagtcc	9	7	13	12	2	2	1	1	0	1	1	5	4	3	3	3	3	2	1	3	3	0	1			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr2:27804893G>A	ENST00000408964.2	+	1	5505	c.5454G>A	c.(5452-5454)ttG>ttA	p.L1818L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1818	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACAGTCTCTTGGAGAGGAGCC	0.537													6	104					0	0	0	0	A	27804893	G	A	27804893	2	1	238	1	0	0	0	0	0	0	0	1	2177	1339	47	4		4	C2orf16	2	27804893	Silent	SNP	G	TCGA-CV-5971-01A-11D-1683-08	3758626	27804893	215394480	6	43391											
RGPD4	285190	broad.mit.edu	37	chr2	108488636	108488636	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaattatgataataagcaAgttcgtatagtgatgagaag	17	11	10	3	1	0	4	0	3	0	2	1	5	0	4	0	0	1	3	0	0	8	6			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr2:108488636A>T	ENST00000408999.3	+	20	4253	c.4176A>T	c.(4174-4176)caA>caT	p.Q1392H	RGPD4_ENST00000354986.4_Missense_Mutation_p.Q1392H	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1392	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATAATAAGCAAGTTCGTATAG	0.363													6	246					0	0	0	0	T	108488636	A	T	108488636	3	4	238	1	0	0	0	0	1	0	0	0	13370	69	3	5	4254	5	RGPD4	2	108488636	Missense_Mutation	SNP	A	TCGA-CV-5971-01A-11D-1683-08	80683743	108488636	134710737	7	43392											
CRYGA	1418	broad.mit.edu	37	chr2	209025578	209025578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgactttggcatctgcacCcccccagtcgtggtaccttc	5	10	9	17	2	1	0	0	0	1	0	3	1	1	0	5	2	2	3	5	2	1	3			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr2:209025578C>T	ENST00000304502.4	-	3	494	c.475G>A	c.(475-477)Ggt>Agt	p.G159S		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GCATCTGCACCCCCCCAGTCG	0.537													3	87					0	0	0	0	T	209025578	C	T	209025578	3	4	238	1	0	0	0	0	1	0	0	0	3944	623	22	4	53	4	CRYGA	2	209025578	Missense_Mutation	SNP	C	TCGA-CV-5971-01A-11D-1683-08	100536942	209025578	34173795	8	43393											
CCR1	1230	broad.mit.edu	37	chr3	46244880	46244880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactgccgcaggtacttccGgaacctctcaccaacgaagg	11	6	9	15	3	1	0	1	0	1	0	3	2	2	1	4	3	5	2	4	3	5	2			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr3:46244880G>A	ENST00000296140.3	-	2	1050	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	309					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGGTACTTCCGGAACCTCTCA	0.587													3	25					0	0	0	0	A	46244880	G	A	46244880	3	1	238	1	0	0	0	0	1	0	0	0	2968	1115	39	1	146	1	CCR1	3	46244880	Missense_Mutation	SNP	G	TCGA-CV-5971-01A-11D-1683-08		46244880	151777550	9	43394											
C3orf38	285237	broad.mit.edu	37	chr3	88199220	88199220	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggatggagatgtcgggactCagcttttcagagatggaggg	9	9	18	5	1	2	2	2	0	0	2	3	7	2	5	0	5	1	1	0	5	0	2			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr3:88199220C>G	ENST00000318887.3	+	1	328	c.18C>G	c.(16-18)ctC>ctG	p.L6L	C3orf38_ENST00000486971.1_Silent_p.L6L	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	6					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGTCGGGACTCAGCTTTTCAG	0.617													3	24					0	0	0	0	G	88199220	C	G	88199220	2	3	238	1	0	0	0	0	0	0	0	1	2248	813	29	2		2	C3orf38	3	88199220	Silent	SNP	C	TCGA-CV-5971-01A-11D-1683-08	41954340	88199220	109823210	10	43395											
MAP1B	4131	broad.mit.edu	37	chr5	71492944	71492944	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgaaaaggtcagcccatcGaagagcccgtccctgagtcc	11	6	11	13	2	1	3	1	2	0	1	4	4	3	3	4	1	2	0	4	1	3	0			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr5:71492944G>A	ENST00000296755.7	+	5	4060	c.3762G>A	c.(3760-3762)tcG>tcA	p.S1254S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1254						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCAGCCCATCGAAGAGCCCGT	0.493													5	44					0	0	0	0	A	71492944	G	A	71492944	2	1	238	1	0	0	0	0	0	0	0	1	9297	1045	37	1		1	MAP1B	5	71492944	Silent	SNP	G	TCGA-CV-5971-01A-11D-1683-08		71492944	109422316	11	43396											
AFF4	27125	broad.mit.edu	37	chr5	132232314	132232314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaggagtcctattgctctCggggtacttaggagtttgtg	8	13	13	7	1	1	0	0	0	1	0	3	2	2	2	1	4	3	3	1	4	4	5			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr5:132232314C>T	ENST00000265343.5	-	11	2387	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	AFF4_ENST00000378595.3_Missense_Mutation_p.E670K	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	670					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.E670K(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTATTGCTCTCGGGGTACTTA	0.443													4	55					0	0	0	0	T	132232314	C	T	132232314	3	4	238	1	0	0	0	0	1	0	0	0	359	893	31	1	1527	1	AFF4	5	132232314	Missense_Mutation	SNP	C	TCGA-CV-5971-01A-11D-1683-08	60739370	132232314	48682946	12	43397											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723793	140723793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcggagcgcggagtcCgcatcgtctccagaggtagg	7	6	17	11	5	1	1	0	0	1	1	4	3	2	3	2	5	2	3	2	5	1	1			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr5:140723793C>T	ENST00000253812.6	+	1	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.R65C(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGAGTCCGCATCGTCTC	0.617											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	136					0	0	0	0	T	140723793	C	T	140723793	3	4	238	1	0	0	0	0	1	0	0	0	11626	652	23	1	195	1	PCDHGA3	5	140723793	Missense_Mutation	SNP	C	TCGA-CV-5971-01A-11D-1683-08	8491479	140723793	40191467	13	43398											
ASF1A	25842	broad.mit.edu	37	chr6	119226832	119226832	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctaggctgatgcacctaatCcaggactcattccagatgca	11	10	8	12	0	2	2	1	1	1	1	4	3	4	3	3	2	2	3	3	2	2	3			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr6:119226832C>G	ENST00000229595.5	+	3	435	c.241C>G	c.(241-243)Cca>Gca	p.P81A	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	81	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		TGCACCTAATCCAGGACTCAT	0.393													3	116					0	0	0	0	G	119226832	C	G	119226832	3	3	238	1	0	0	0	0	1	0	0	0	1041	855	30	2	138	2	ASF1A	6	119226832	Missense_Mutation	SNP	C	TCGA-CV-5971-01A-11D-1683-08		119226832	51888235	14	43399											
PCLO	27445	broad.mit.edu	37	chr7	82581315	82581315	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttcattcccccaatccctCtataaccatatggccctgat	9	12	4	16	0	2	1	1	1	1	0	4	1	4	1	5	1	1	1	5	1	4	5			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr7:82581315C>G	ENST00000423517.2	-	5	9291	c.8954G>C	c.(8953-8955)aGa>aCa	p.R2985T	PCLO_ENST00000333891.8_Missense_Mutation_p.R2985T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2916					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCCAATCCCTCTATAACCATA	0.423													7	173					0	0	0	0	G	82581315	C	G	82581315	3	3	238	1	0	0	0	0	1	0	0	0	11654	913	32	2	6575	2	PCLO	7	82581315	Missense_Mutation	SNP	C	TCGA-CV-5971-01A-11D-1683-08		82581315	76557348	15	43400											
TAS2R5	54429	broad.mit.edu	37	chr7	141490605	141490605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccaaattggcttaacattCtatcatcctccccaaggaaa	13	11	5	12	0	2	0	1	0	1	0	5	1	5	1	4	2	1	1	4	2	5	4			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr7:141490605C>T	ENST00000247883.4	+	1	589	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	148					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GCTTAACATTCTATCATCCTC	0.433													4	24					0	0	0	0	T	141490605	C	T	141490605	2	4	238	1	0	0	0	0	0	0	0	1	15674	912	32	2		2	TAS2R5	7	141490605	Silent	SNP	C	TCGA-CV-5971-01A-11D-1683-08	58909290	141490605	17648058	16	43401											
CPA6	57094	broad.mit.edu	37	chr8	68423859	68423859	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtgcaagctgcttcccttctCcagtgttttctgaagatctt	6	16	8	11	0	3	2	0	1	3	1	5	2	4	2	2	0	3	4	2	0	2	5			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr8:68423859C>G	ENST00000297770.4	-	4	564	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	CPA6_ENST00000518549.1_Missense_Mutation_p.E117Q|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	117					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTTCCCTTCTCCAGTGTTTTC	0.388													6	198					0	0	0	0	G	68423859	C	G	68423859	3	3	238	1	0	0	0	0	1	0	0	0	3824	864	30	2	996	2	CPA6	8	68423859	Missense_Mutation	SNP	C	TCGA-CV-5971-01A-11D-1683-08		68423859	77940163	17	43402											
FAM189A2	9413	broad.mit.edu	37	chr9	71992331	71992331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgccctgaccaccaccGtctgcttggtggccgctgcc	5	9	11	16	2	1	2	0	2	1	0	1	2	1	2	6	2	3	2	6	2	1	1			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr9:71992331G>A	ENST00000257515.8	+	5	718	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	FAM189A2_ENST00000455972.1_Missense_Mutation_p.V100I|FAM189A2_ENST00000303068.7_5'UTR	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	100						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GACCACCACCGTCTGCTTGGT	0.532													7	55					0	0	0	0	A	71992331	G	A	71992331	3	1	238	1	0	0	0	0	1	0	0	0	5559	1145	40	1	312	1	FAM189A2	9	71992331	Missense_Mutation	SNP	G	TCGA-CV-5971-01A-11D-1683-08		71992331	69221100	18	43403											
TRPM6	140803	broad.mit.edu	37	chr9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagattttatgccatgtccGcacaacctcaggaagaaagg	14	8	10	9	1	1	2	1	0	0	2	2	4	2	3	3	2	2	1	3	2	5	2			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr9:77354692G>A	ENST00000451710.3	-	33	5683	c.5446C>T	c.(5446-5448)Cgg>Tgg	p.R1816W	TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase.				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						TGCCATGTCCGCACAACCTCA	0.488													5	183					0	0	0	0	A	77354692	G	A	77354692	3	1	238	1	0	0	0	0	1	0	0	0	16685	1086	38	1	658	1	TRPM6	9	77354692	Missense_Mutation	SNP	G	TCGA-CV-5971-01A-11D-1683-08	5362361	77354692	63858739	19	43404											
NOTCH1	4851	broad.mit.edu	37	chr9	139413085	139413085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtagaaggaggccacacGgtcatggcaggtggcgccgt	9	5	17	10	3	1	1	1	0	0	1	1	2	1	2	2	6	0	3	2	6	2	1			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr9:139413085G>A	ENST00000277541.6	-	6	1132	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	353	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.R353C(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGGCCACACGGTCATGGCAG	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			3	16					0	0	0	0	A	139413085	G	A	139413085	3	1	238	1	0	0	0	0	1	0	0	0	10617	1116	39	1	6726	1	NOTCH1	9	139413085	Missense_Mutation	SNP	G	TCGA-CV-5971-01A-11D-1683-08	62058393	139413085	1800346	20	43405											
CAMK1D	57118	broad.mit.edu	37	chr10	12867572	12867572	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcctttctgaaatttcagCaagcatttaatgccacggcc	10	14	6	11	1	2	1	1	1	1	0	3	1	3	1	3	1	3	2	3	1	3	5			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr10:12867572C>G	ENST00000378847.3	+	10	1259	c.921_splice	c.e10-1	p.Q308_splice	CAMK1D_ENST00000378845.1_Splice_Site_p.Q308_splice	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	308	Autoinhibitory domain (By similarity).|Calmodulin-binding (By similarity).					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GAAATTTCAGCAAGCATTTAA	0.413													5	80					0	0	0	0	G	12867572	C	G	12867572	5	3	238	1	0	0	0	0	0	0	1	0	2622	724	25	4	960	4	CAMK1D	10	12867572	Splice_Site	SNP	C	TCGA-CV-5971-01A-11D-1683-08		12867572	122667175	21	43406											
PKD2L1	9033	broad.mit.edu	37	chr10	102056008	102056008	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cccatgagccgattcacctcGagggttcggaatatgtggaa	10	9	12	10	3	1	1	1	1	0	0	3	5	1	3	3	3	1	1	3	3	3	3			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr10:102056008G>C	ENST00000318222.3	-	7	1609	c.1227C>G	c.(1225-1227)ctC>ctG	p.L409L	PKD2L1_ENST00000338519.3_Silent_p.L334L|PKD2L1_ENST00000353274.3_Silent_p.L409L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	409					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GATTCACCTCGAGGGTTCGGA	0.542													3	28					0	0	0	0	C	102056008	G	C	102056008	2	2	238	1	0	0	0	0	0	0	0	1	12039	1045	37	3		3	PKD2L1	10	102056008	Silent	SNP	G	TCGA-CV-5971-01A-11D-1683-08	89188436	102056008	33478739	22	43407											
SUFU	51684	broad.mit.edu	37	chr10	104359280	104359280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaccctcagcggcagaatgGcctcgcccacgaccgggccc	8	3	11	19	4	1	1	1	0	0	1	2	2	1	1	5	3	2	1	5	3	2	0			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr10:104359280G>A	ENST00000369902.3	+	8	1167	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	SUFU_ENST00000423559.2_Missense_Mutation_p.G334D|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Missense_Mutation_p.G334D	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	334					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CGGCAGAATGGCCTCGCCCAC	0.582			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				6	51					0	0	0	0	A	104359280	G	A	104359280	3	1	238	1	0	0	0	0	1	0	0	0	15458	1203	42	4	1031	4	SUFU	10	104359280	Missense_Mutation	SNP	G	TCGA-CV-5971-01A-11D-1683-08	2303272	104359280	31175467	23	43408											
TRIM8	81603	broad.mit.edu	37	chr10	104415877	104415877	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacagaacaccaagtctgtGaaaatcctgatggacaggta	16	7	9	9	0	1	3	0	2	1	1	2	4	2	4	2	2	2	1	2	2	6	1			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr10:104415877G>A	ENST00000302424.6	+	4	1037	c.915G>A	c.(913-915)gtG>gtA	p.V305V	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	305						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCAAGTCTGTGAAAATCCTGA	0.637													5	209					0	0	0	0	A	104415877	G	A	104415877	2	1	238	1	0	0	0	0	0	0	0	1	16643	1277	45	2		2	TRIM8	10	104415877	Silent	SNP	G	TCGA-CV-5971-01A-11D-1683-08	56597	104415877	31118870	24	43409											
PATL1	219988	broad.mit.edu	37	chr11	59420024	59420024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatcaccttgtatttcttCagcagctgacagtttctcca	8	14	6	13	0	4	1	2	1	2	0	5	1	4	1	3	0	2	4	3	0	1	5			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr11:59420024C>T	ENST00000300146.9	-	11	1423	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	447	Region H.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TGTATTTCTTCAGCAGCTGAC	0.458													4	62					0	0	0	0	T	59420024	C	T	59420024	3	4	238	1	0	0	0	0	1	0	0	0	11546	835	29	2	1009	2	PATL1	11	59420024	Missense_Mutation	SNP	C	TCGA-CV-5971-01A-11D-1683-08		59420024	75586492	25	43410											
C11orf53	341032	broad.mit.edu	37	chr11	111154935	111154935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtttccctgtgagtcctccGcagggcagagccatgcggct	5	9	13	14	3	0	2	0	1	0	1	3	2	3	2	4	2	2	4	4	2	0	1			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr11:111154935G>A	ENST00000280325.4	+	3	289	c.142G>A	c.(142-144)Gca>Aca	p.A48T		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	48										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		TGAGTCCTCCGCAGGGCAGAG	0.582													7	178					0	0	0	0	A	111154935	G	A	111154935	3	1	238	1	0	0	0	0	1	0	0	0	1659	1087	38	1	148	1	C11orf53	11	111154935	Missense_Mutation	SNP	G	TCGA-CV-5971-01A-11D-1683-08	51734911	111154935	23851581	26	43411											
ESR2	2100	broad.mit.edu	37	chr14	64746775	64746775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatatcccgatgcgtaatcGctgcagacagcgcagaagtg	11	8	12	10	4	0	3	0	1	0	2	2	4	1	3	1	0	3	4	1	0	3	2			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr14:64746775G>A	ENST00000557772.1	-	2	458	c.459C>T	c.(457-459)agC>agT	p.S153S	ESR2_ENST00000555278.1_Silent_p.S153S|ESR2_ENST00000267525.6_Silent_p.S153S|ESR2_ENST00000341099.4_Silent_p.S153S|ESR2_ENST00000358599.5_Silent_p.S153S|ESR2_ENST00000357782.2_Silent_p.S153S|ESR2_ENST00000553796.1_Silent_p.S153S|ESR2_ENST00000353772.3_Silent_p.S153S|ESR2_ENST00000542956.1_Silent_p.S153S|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000554572.1_Silent_p.S153S	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	153					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATGCGTAATCGCTGCAGACAG	0.473													12	207					0	0	0	0	A	64746775	G	A	64746775	2	1	238	1	0	0	0	0	0	0	0	1	5295	1078	38	1		1	ESR2	14	64746775	Silent	SNP	G	TCGA-CV-5971-01A-11D-1683-08		64746775	42602765	27	43412											
GALNT1	2589	broad.mit.edu	37	chr18	33283589	33283589	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacctaaaaggcaaccaactCtgggagtatgacccagtggt	13	7	10	11	0	1	1	0	1	1	0	1	2	1	2	3	3	2	2	3	3	5	2			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr18:33283589C>G	ENST00000269195.5	+	10	1618	c.1515C>G	c.(1513-1515)ctC>ctG	p.L505L	GALNT1_ENST00000537549.1_Silent_p.L445L	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	505	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GCAACCAACTCTGGGAGTATG	0.373													4	50					0	0	0	0	G	33283589	C	G	33283589	2	3	238	1	0	0	0	0	0	0	0	1	6256	900	32	2		2	GALNT1	18	33283589	Silent	SNP	C	TCGA-CV-5971-01A-11D-1683-08		33283589	44793659	28	43413											
NOVA2	4858	broad.mit.edu	37	chr19	46444042	46444042	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggccttgtgcacctgctcGggctcgccgctgaccgtcac	4	8	12	17	5	1	1	1	1	0	0	3	1	1	1	4	2	2	4	4	2	0	1			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr19:46444042G>A	ENST00000263257.5	-	4	752	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	186	KH 2.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GCACCTGCTCGGGCTCGCCGC	0.632													3	34					0	0	0	0	A	46444042	G	A	46444042	2	1	238	1	0	0	0	0	0	0	0	1	10625	1103	39	1		1	NOVA2	19	46444042	Silent	SNP	G	TCGA-CV-5971-01A-11D-1683-08		46444042	12684941	29	43414											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343													6	80					0	0	0	0	C	11058353	T	C	11058353	1	2	238	0	1	0	0	0	0	0	0	0	1296	1769	61	5		5	BAGE2	21	11058353	RNA	SNP	T	TCGA-CV-5971-01A-11D-1683-08		11058353	37071542	30	43415											
MAPK1	5594	broad.mit.edu	37	chr22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaacatgagctcttacctCgtcactcgggtcgtaatact	10	11	9	11	3	2	1	1	1	1	0	5	2	2	2	1	2	4	2	1	2	4	3			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K|MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478													3	45					0	0	0	0	T	22127164	C	T	22127164	3	4	238	1	0	0	0	0	1	0	0	0	9340	893	31	1	126	1	MAPK1	22	22127164	Missense_Mutation	SNP	C	TCGA-CV-5971-01A-11D-1683-08		22127164	29177402	31	43416											
SLC2A11	66035	broad.mit.edu	37	chr22	24204324	24204324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctcctgaccatctgcGctgccggcattggtgggact	4	11	12	14	2	1	1	0	1	1	0	3	2	3	2	4	3	3	3	4	3	0	1			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr22:24204324G>A	ENST00000345044.6	+	2	323	c.55G>A	c.(55-57)Gct>Act	p.A19T	SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000398356.2_Missense_Mutation_p.A26T|SLC2A11_ENST00000316185.8_Missense_Mutation_p.A22T|SLC2A11_ENST00000405847.1_Missense_Mutation_p.A19T|SLC2A11_ENST00000403208.3_Missense_Mutation_p.A19T			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	19						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GACCATCTGCGCTGCCGGCAT	0.557													4	156					0	0	0	0	A	24204324	G	A	24204324	3	1	238	1	0	0	0	0	1	0	0	0	14628	1087	38	1	141	1	SLC2A11	22	24204324	Missense_Mutation	SNP	G	TCGA-CV-5971-01A-11D-1683-08	2077160	24204324	27100242	32	43417											
APOBEC3B	9582	broad.mit.edu	37	chr22	39387498	39387498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccggggaagtgcgtgcGttccttcaggagaacacaca	9	8	14	10	3	1	1	1	0	0	1	2	3	2	2	2	3	4	1	2	3	2	2			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr22:39387498G>A	ENST00000402182.3	+	6	940	c.885G>A	c.(883-885)gcG>gcA	p.A295A	APOBEC3B_ENST00000407298.3_Silent_p.A270A|APOBEC3B_ENST00000333467.3_Silent_p.A295A			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	295					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					AAGTGCGTGCGTTCCTTCAGG	0.577													5	105					0	0	0	0	A	39387498	G	A	39387498	2	1	238	1	0	0	0	0	0	0	0	1	792	1132	40	1		1	APOBEC3B	22	39387498	Silent	SNP	G	TCGA-CV-5971-01A-11D-1683-08	15183174	39387498	11917068	33	43418											
ENTHD1	150350	broad.mit.edu	37	chr22	40283601	40283601	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcatattcataatctctGagagagaaattgtgttgaaa	16	12	8	5	0	2	3	1	2	1	2	3	5	2	3	0	0	1	2	0	0	4	5			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr22:40283601G>C	ENST00000325157.6	-	2	402	c.152C>G	c.(151-153)tCa>tGa	p.S51*		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	51	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CATAATCTCTGAGAGAGAAAT	0.418													3	126					0	0	0	0	C	40283601	G	C	40283601	4	2	238	1	0	0	0	0	0	1	0	0	5175	1294	45	2	1695	2	ENTHD1	22	40283601	Nonsense_Mutation	SNP	G	TCGA-CV-5971-01A-11D-1683-08	896103	40283601	11020965	34	43419											
PTCH2	8643	broad.mit.edu	37	chr1	45292686	45292686	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcactgctcacccacacGgtcagccccatgtagaagag	10	6	11	14	1	3	2	3	0	0	2	3	2	3	2	3	2	2	2	3	2	2	1			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:45292686G>T	ENST00000447098.2	-	17	2594	c.2583C>A	c.(2581-2583)acC>acA	p.T861T	PTCH2_ENST00000372192.3_Silent_p.T861T	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	861					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCACCCACACGGTCAGCCCCA	0.622									Basal Cell Nevus syndrome				39	189					4.14481e-20	4.60534e-20	1	0	T	45292686	G	T	45292686	2	4	239	1	0	0	0	0	0	0	0	1	12810	1103	39	3		3	PTCH2	1	45292686	Silent	SNP	G	TCGA-CV-5973-01A-11D-1683-08		45292686	203957935	1	43420											
SETDB1	9869	broad.mit.edu	37	chr1	150923168	150923168	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctctgctggtcccgttactAtatgacttccggcggatgac	6	12	10	13	3	1	2	0	2	1	0	3	3	3	3	3	3	2	2	3	3	3	4			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:150923168A>G	ENST00000271640.5	+	13	2005	c.1815A>G	c.(1813-1815)ctA>ctG	p.L605L	SETDB1_ENST00000368969.4_Silent_p.L605L|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	605	MBD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCCGTTACTATATGACTTCC	0.517													37	38					0	0	0	0	G	150923168	A	G	150923168	2	3	239	1	0	0	0	0	0	0	0	1	14225	436	16	5		5	SETDB1	1	150923168	Silent	SNP	A	TCGA-CV-5973-01A-11D-1683-08	105630482	150923168	98327453	2	43421											
ASPM	259266	broad.mit.edu	37	chr1	197111689	197111689	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgaagctgttgtcgaagAgggtgttacctcgtttttat	9	15	11	6	2	0	2	0	1	0	1	2	3	0	2	1	1	3	4	1	1	5	5			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:197111689A>T	ENST00000367409.4	-	3	1949	c.1693T>A	c.(1693-1695)Tct>Act	p.S565T	ASPM_ENST00000294732.7_Missense_Mutation_p.S565T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	565					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTGTCGAAGAGGGTGTTACC	0.343													27	83					0	0	0	0	T	197111689	A	T	197111689	3	4	239	1	0	0	0	0	1	0	0	0	1060	304	11	5	8844	5	ASPM	1	197111689	Missense_Mutation	SNP	A	TCGA-CV-5973-01A-11D-1683-08	46188521	197111689	52138932	3	43422											
CD55	1604	broad.mit.edu	37	chr1	207504538	207504538	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatatagacagtctgtaacGtatgcatgtaataaaggatt	15	12	10	4	1	1	1	0	0	1	1	1	3	1	3	0	2	2	4	0	2	7	7			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:207504538G>A	ENST00000367064.3	+	6	1008	c.750G>A	c.(748-750)acG>acA	p.T250T	CD55_ENST00000391921.4_Silent_p.T186T|CD55_ENST00000367063.2_Silent_p.T250T|CD55_ENST00000391920.4_Silent_p.T250T|CD55_ENST00000367065.5_Silent_p.T250T|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000314754.8_Silent_p.T250T|CD55_ENST00000367062.4_Silent_p.T250T	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	250	Sushi 4.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	p.T250T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	AGTCTGTAACGTATGCATGTA	0.383													33	78					0	0	0	0	A	207504538	G	A	207504538	2	1	239	1	0	0	0	0	0	0	0	1	3053	1132	40	1		1	CD55	1	207504538	Silent	SNP	G	TCGA-CV-5973-01A-11D-1683-08	10392849	207504538	41746083	4	43423											
OR2T11	127077	broad.mit.edu	37	chr1	248789870	248789870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcatacaaggacgtgtctGcacaggccagtttcagaact	11	11	9	10	1	3	1	2	0	1	1	3	2	3	2	1	2	3	2	1	2	3	3			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr1:248789870G>T	ENST00000330803.2	-	1	621	c.560C>A	c.(559-561)gCa>gAa	p.A187E		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGACGTGTCTGCACAGGCCAG	0.468													16	72					2.35188e-11	2.55023e-11	1	0	T	248789870	G	T	248789870	3	4	239	1	0	0	0	0	1	0	0	0	11089	1319	46	4	394	4	OR2T11	1	248789870	Missense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08	41285332	248789870	460751	5	43424											
GALNT14	79623	broad.mit.edu	37	chr2	31155016	31155016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccactcggctgcaggggaCgatctctaggctgcccccgc	5	6	12	18	3	1	0	0	0	1	0	3	2	1	1	4	4	2	3	4	4	1	1	rs139793019	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:31155016C>T	ENST00000349752.5	-	10	1615	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	GALNT14_ENST00000324589.5_Missense_Mutation_p.V331I|GALNT14_ENST00000420311.2_Missense_Mutation_p.V291I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Missense_Mutation_p.V306I|GALNT14_ENST00000356174.3_Missense_Mutation_p.V293I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	326	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V326I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTGCAGGGGACGATCTCTAGG	0.557													9	49					0	0	0	0	T	31155016	C	T	31155016	3	4	239	1	0	0	0	0	1	0	0	0	6261	536	19	1	706	1	GALNT14	2	31155016	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08		31155016	212044357	6	43425											
NRXN1	9378	broad.mit.edu	37	chr2	50280513	50280513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatctctgattgcatggCagtggctgttgactcagttg	7	13	13	8	0	2	2	1	2	1	0	3	3	2	3	0	3	1	5	0	3	0	3			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:50280513C>T	ENST00000404971.1	-	22	5483	c.4144G>A	c.(4144-4146)Gcc>Acc	p.A1382T	NRXN1_ENST00000406316.2_Missense_Mutation_p.A1312T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1334T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1334T|NRXN1_ENST00000342183.5_Missense_Mutation_p.A277T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1342T|NRXN1_ENST00000401710.1_Missense_Mutation_p.A330T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1312T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1312					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GATTGCATGGCAGTGGCTGTT	0.498													17	72					0	0	0	0	T	50280513	C	T	50280513	3	4	239	1	0	0	0	0	1	0	0	0	10736	710	25	4	511	4	NRXN1	2	50280513	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08	19125497	50280513	192918860	7	43426											
CNGA3	1261	broad.mit.edu	37	chr2	99013496	99013496	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggccagggcgggcgcGgaccccaaggaccttgagga	8	3	18	12	3	0	1	0	1	0	0	0	5	0	4	4	6	1	1	4	6	1	1			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:99013496G>A	ENST00000393504.1	+	8	2280	c.1863G>A	c.(1861-1863)gcG>gcA	p.A621A	CNGA3_ENST00000409937.1_Silent_p.A625A|CNGA3_ENST00000272602.2_Silent_p.A621A|CNGA3_ENST00000436404.2_Silent_p.A603A	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	621					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGCGGGCGCGGACCCCAAGG	0.622													31	19					0	0	0	0	A	99013496	G	A	99013496	2	1	239	1	0	0	0	0	0	0	0	1	3628	1103	39	1		1	CNGA3	2	99013496	Silent	SNP	G	TCGA-CV-5973-01A-11D-1683-08	48732983	99013496	144185877	8	43427											
SH3RF3	344558	broad.mit.edu	37	chr2	109964267	109964267	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaccacggcgagctgcaCggcacacagggcttcctccc	7	6	12	16	3	0	0	0	0	0	0	2	1	2	0	3	4	3	5	3	4	1	2			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:109964267C>T	ENST00000309415.6	+	2	711	c.711C>T	c.(709-711)caC>caT	p.H237H		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	237	SH3 1.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GCGAGCTGCACGGCACACAGG	0.587													6	20					0	0	0	0	T	109964267	C	T	109964267	2	4	239	1	0	0	0	0	0	0	0	1	14348	535	19	1		1	SH3RF3	2	109964267	Silent	SNP	C	TCGA-CV-5973-01A-11D-1683-08	10950771	109964267	133235106	9	43428											
RBM43	375287	broad.mit.edu	37	chr2	152112091	152112091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaactcccttggttcttGtcggatatatcacatcttca	9	15	6	11	1	4	0	2	0	2	0	6	1	5	1	1	2	2	2	1	2	3	6			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:152112091G>A	ENST00000331426.5	-	2	321	c.170C>T	c.(169-171)aCa>aTa	p.T57I		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	57	RRM.						nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		CTTGGTTCTTGTCGGATATAT	0.318													45	63					0	0	0	0	A	152112091	G	A	152112091	3	1	239	1	0	0	0	0	1	0	0	0	13219	1377	48	4	915	4	RBM43	2	152112091	Missense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08	42147824	152112091	91087282	10	43429											
RNF25	64320	broad.mit.edu	37	chr2	219529928	219529928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaggcaagatcatacaCgaggggctctctgcacactg	11	7	12	11	1	2	2	1	1	1	1	3	3	2	2	0	3	2	3	0	3	2	1			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:219529928C>T	ENST00000295704.2	-	8	1056	c.616G>A	c.(616-618)Gtg>Atg	p.V206M		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	206					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATCATACACGAGGGGCTCT	0.498													6	20					0	0	0	0	T	219529928	C	T	219529928	3	4	239	1	0	0	0	0	1	0	0	0	13570	536	19	1	775	1	RNF25	2	219529928	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08	67417837	219529928	23669445	11	43430											
PTPRN	5798	broad.mit.edu	37	chr2	220164844	220164844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagggggtctggcagctttGggaggctcagaggagacagg	9	6	19	7	0	2	2	1	0	1	2	2	4	2	3	0	7	1	3	0	7	0	1			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:220164844G>A	ENST00000295718.2	-	9	1539	c.1299C>T	c.(1297-1299)ccC>ccT	p.P433P	PTPRN_ENST00000409251.3_Silent_p.P433P|PTPRN_ENST00000423636.2_Silent_p.P343P|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	433					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGGCAGCTTTGGGAGGCTCAG	0.652													31	52					0	0	0	0	A	220164844	G	A	220164844	2	1	239	1	0	0	0	0	0	0	0	1	12889	1335	47	4		4	PTPRN	2	220164844	Silent	SNP	G	TCGA-CV-5973-01A-11D-1683-08	634916	220164844	23034529	12	43431											
HJURP	55355	broad.mit.edu	37	chr2	234750497	234750497	+	Frame_Shift_Del	DEL	C	C	-																															gagaacgtctggctcctttgCaatatgttttgttcatcctg																										TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr2:234750497delC	ENST00000411486.2	-	8	994	c.929delG	c.(928-930)tcfs	p.C310fs	HJURP_ENST00000432087.1_Frame_Shift_Del_p.C256fs|HJURP_ENST00000441687.1_Frame_Shift_Del_p.C225fs	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	310					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGCTCCTTTGCAATATGTTTT	0.468													10	23	---	---	---	---					-	234750497	C	-	234750497	7	5	239	1	0	1	0	1	0	0	0	0	7239	710	25	0	1325	0	HJURP	2	234750497	Frame_Shift_Del	DEL	C	TCGA-CV-5973-01A-11D-1683-08	14585653	234750497	8448876	13	43432											
MAP4	4134	broad.mit.edu	37	chr3	47912432	47912432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggagctgggtttggcCgaggtgggcttcttgtctat	3	14	18	6	1	2	0	0	0	2	0	2	2	2	1	1	6	1	3	1	6	1	4	rs146957827		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:47912432C>T	ENST00000426837.2	-	15	6252	c.6165G>A	c.(6163-6165)tcG>tcA	p.S2055S	MAP4_ENST00000420772.2_Silent_p.S641S|MAP4_ENST00000383737.4_Silent_p.S638S|MAP4_ENST00000360240.6_Silent_p.S910S|MAP4_ENST00000395734.3_Silent_p.S910S|MAP4_ENST00000264724.11_Silent_p.S645S|MAP4_ENST00000441748.2_Silent_p.S62S			P27816	MAP4_HUMAN	microtubule-associated protein 4	910					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGGTTTGGCCGAGGTGGGCT	0.632													27	39					0	0	0	0	T	47912432	C	T	47912432	2	4	239	1	0	0	0	0	0	0	0	1	9327	639	23	1		1	MAP4	3	47912432	Silent	SNP	C	TCGA-CV-5973-01A-11D-1683-08		47912432	150109998	14	43433											
CACNA1D	776	broad.mit.edu	37	chr3	53842756	53842756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccgtcgtctcccatcttcCcccatcgcacggccctgcct	3	10	6	22	4	2	0	0	0	2	0	7	0	4	0	6	1	1	1	6	1	0	1			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:53842756C>T	ENST00000288139.3	+	47	6008	c.5890C>T	c.(5890-5892)Ccc>Tcc	p.P1964S	CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1944S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1920S|CACNA1D_ENST00000544977.1_Missense_Mutation_p.P323S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1944					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P1964S(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCCCATCTTCCCCCATCGCAC	0.637													15	31					0	0	0	0	T	53842756	C	T	53842756	3	4	239	1	0	0	0	0	1	0	0	0	2566	623	22	4	6184	4	CACNA1D	3	53842756	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08	5930324	53842756	144179674	15	43434											
POLQ	10721	broad.mit.edu	37	chr3	121207697	121207697	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaagagttcattgagttctGttggactaagctcttctgca	11	14	9	7	0	4	2	1	1	3	1	4	3	4	3	0	1	2	5	0	1	3	6			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:121207697G>A	ENST00000264233.5	-	16	4209	c.4081C>T	c.(4081-4083)Cag>Tag	p.Q1361*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1361					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.Q1496*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATTGAGTTCTGTTGGACTAAG	0.438								DNA polymerases (catalytic subunits)					25	153					0	0	0	0	A	121207697	G	A	121207697	4	1	239	1	0	0	0	0	0	1	0	0	12280	1386	48	4	3751	4	POLQ	3	121207697	Nonsense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08	67364941	121207697	76814733	16	43435											
PPP2R3A	5523	broad.mit.edu	37	chr3	135722254	135722254	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccaggccaatttatcAgtctgtagaagtcctgttgg	8	13	9	11	0	2	1	1	0	1	1	5	1	5	1	4	2	0	2	4	2	4	4			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:135722254A>T	ENST00000264977.3	+	2	2531	c.1914A>T	c.(1912-1914)tcA>tcT	p.S638S	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	638					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCAATTTATCAGTCTGTAGAA	0.413													21	72					0	0	0	0	T	135722254	A	T	135722254	2	4	239	1	0	0	0	0	0	0	0	1	12464	175	7	5		5	PPP2R3A	3	135722254	Silent	SNP	A	TCGA-CV-5973-01A-11D-1683-08	14514557	135722254	62300176	17	43436											
CLDN16	10686	broad.mit.edu	37	chr3	190127790	190127790	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagcccctcgcacagagAcggccaaaatgtatgctgta	12	7	9	13	2	1	1	1	0	0	1	2	2	1	1	3	1	2	4	3	1	4	2			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr3:190127790A>G	ENST00000264734.2	+	5	1131	c.883A>G	c.(883-885)Acg>Gcg	p.T295A	CLDN16_ENST00000456423.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	295					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TCGCACAGAGACGGCCAAAAT	0.433													3	54					0	0	0	0	G	190127790	A	G	190127790	3	3	239	1	0	0	0	0	1	0	0	0	3507	275	10	5	901	5	CLDN16	3	190127790	Missense_Mutation	SNP	A	TCGA-CV-5973-01A-11D-1683-08	54405536	190127790	7894640	18	43437											
CLDN22	53842	broad.mit.edu	37	chr4	184241208	184241209	+	Frame_Shift_Del	DEL	AC	AC	-																															tccccacttcctcttggatgAcacaggtttgccagagtccc																										TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr4:184241208_184241209delAC	ENST00000323319.5	-	1	718_719	c.163_164delGT	c.(163-165)cfs	p.V55fs	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	55					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTCTTGGATGACACAGGTTTGC	0.465													23	37	---	---	---	---					-	184241209	AC	-	184241208	7	5	239	1	0	1	0	1	0	0	0	0	3513	275	10	0	502	0	CLDN22	4	184241208	Frame_Shift_Del	DEL	AC	TCGA-CV-5973-01A-11D-1683-08		184241208	6913068	19	43438											
TRIO	7204	broad.mit.edu	37	chr5	14378176	14378176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtattgcattactggaccatGaggaagagacggctggacca	12	8	13	8	1	0	2	0	1	0	1	0	6	0	5	2	4	2	3	2	4	3	3			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr5:14378176G>A	ENST00000344204.4	+	20	3411	c.3387G>A	c.(3385-3387)atG>atA	p.M1129I	TRIO_ENST00000509967.2_Missense_Mutation_p.M1080I|TRIO_ENST00000537187.1_Missense_Mutation_p.M1129I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1129					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.M1129I(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACTGGACCATGAGGAAGAGAC	0.493													4	8					0	0	0	0	A	14378176	G	A	14378176	3	1	239	1	0	0	0	0	1	0	0	0	16647	1290	45	2	3465	2	TRIO	5	14378176	Missense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08		14378176	166537084	20	43439											
HLA-B	3106	broad.mit.edu	37	chr6	31322969	31322970	+	Frame_Shift_Del	DEL	CA	CA	-																															gccaggccagcaacaatgccCacgatggggacggtggactg																										TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:31322969_31322970delCA	ENST00000412585.2	-	5	954_955	c.926_927delTG	c.(925-927)gfs	p.V309fs		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CAACAATGCCCACGATGGGGAC	0.589									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				20	32	---	---	---	---					-	31322970	CA	-	31322969	7	5	239	1	0	1	0	1	0	0	0	0	7246	581	21	0	173	0	HLA-B	6	31322969	Frame_Shift_Del	DEL	CA	TCGA-CV-5973-01A-11D-1683-08		31322969	139792098	21	43440											
TULP1	7287	broad.mit.edu	37	chr6	35479474	35479474	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggtttcccgggggtcGcgcttcttggcctcggggtc	4	10	16	11	4	1	1	0	0	1	1	5	1	2	1	2	6	0	2	2	6	1	3			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:35479474G>A	ENST00000229771.6	-	4	379	c.300C>T	c.(298-300)cgC>cgT	p.R100R	TULP1_ENST00000322263.4_Intron	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	100					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CCCGGGGGTCGCGCTTCTTGG	0.726													4	7					0	0	0	0	A	35479474	G	A	35479474	2	1	239	1	0	0	0	0	0	0	0	1	16869	1074	38	1		1	TULP1	6	35479474	Silent	SNP	G	TCGA-CV-5973-01A-11D-1683-08	4156505	35479474	135635593	22	43441											
STK38	11329	broad.mit.edu	37	chr6	36485513	36485513	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccaggcaggaactccatGattaggtagaggtttagctt	10	11	11	9	0	0	2	0	1	0	1	2	3	2	3	3	4	2	4	3	4	4	5			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:36485513G>C	ENST00000229812.7	-	6	780	c.495C>G	c.(493-495)atC>atG	p.I165M		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	165	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	p.I165M(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAACTCCATGATTAGGTAGA	0.423													21	56					0	0	0	0	C	36485513	G	C	36485513	3	2	239	1	0	0	0	0	1	0	0	0	15393	1280	45	2	938	2	STK38	6	36485513	Missense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08	1006039	36485513	134629554	23	43442											
SLC22A16	85413	broad.mit.edu	37	chr6	110777895	110777895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggtcatatatgtagccatCcacacaaggaaactctttct	12	12	6	11	0	3	0	1	0	2	0	4	1	4	1	2	2	2	1	2	2	5	4			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr6:110777895C>T	ENST00000368919.3	-	2	445	c.379G>A	c.(379-381)Gat>Aat	p.D127N	SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.D127N|SLC22A16_ENST00000330550.4_Missense_Mutation_p.D93N|SLC22A16_ENST00000456137.2_Missense_Mutation_p.D127N	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	127					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ATGTAGCCATCCACACAAGGA	0.488													55	77					0	0	0	0	T	110777895	C	T	110777895	3	4	239	1	0	0	0	0	1	0	0	0	14535	855	30	2	1382	2	SLC22A16	6	110777895	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08	74292382	110777895	60337172	24	43443											
TNRC18	84629	broad.mit.edu	37	chr7	5353056	5353057	+	Frame_Shift_Ins	INS	-	-	C																															gggctcctgccagccccccgINScccccggatcctcccggagc																										TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr7:5353056_5353057insC	ENST00000399537.4	-	27	7813_7814	c.7465_7466insG	c.(7465-7467)gggfs	p.G2489fs	TNRC18_ENST00000430969.1_Frame_Shift_Ins_p.G2489fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2489							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCAGCCCCCCGCCCCCGGATCC	0.688													5	9	---	---	---	---					C	5353057	-	C	5353056	7	5	239	1	0	1	1	0	0	0	0	0	16433	1087	38	0	1456	0	TNRC18	7	5353056	Frame_Shift_Ins	INS	-	TCGA-CV-5973-01A-11D-1683-08		5353056	153785607	25	43444											
ETV1	2115	broad.mit.edu	37	chr7	13935629	13935629	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtctgtcttcagcagTggacgctgattatctggaaa	9	13	10	9	1	4	1	1	1	3	0	5	3	5	3	1	2	1	2	1	2	2	2			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr7:13935629T>C	ENST00000343495.5	-	13	1980	c.1242A>G	c.(1240-1242)ccA>ccG	p.P414P	ETV1_ENST00000403527.1_Silent_p.P392P|ETV1_ENST00000405218.2_Silent_p.P432P|ETV1_ENST00000403685.1_Silent_p.P414P|ETV1_ENST00000430479.1_Silent_p.P432P|ETV1_ENST00000405358.4_Silent_p.P446P|ETV1_ENST00000242066.5_Silent_p.P414P|ETV1_ENST00000405192.2_Silent_p.P409P|ETV1_ENST00000420159.2_Silent_p.P374P|ETV1_ENST00000399357.3_Silent_p.P329P			P50549	ETV1_HUMAN	ets variant 1	432					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCTTCAGCAGTGGACGCTGAT	0.498			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								11	17					0	0	0	0	C	13935629	T	C	13935629	2	2	239	1	0	0	0	0	0	0	0	1	5315	1683	59	5		5	ETV1	7	13935629	Silent	SNP	T	TCGA-CV-5973-01A-11D-1683-08	8582573	13935629	145203034	26	43445											
DNAH11	8701	broad.mit.edu	37	chr7	21784487	21784487	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctctttctcatcctgcaGggtatagatagtcacatgct	8	16	7	10	0	3	1	2	0	2	1	6	1	4	1	1	1	2	3	1	1	3	5			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr7:21784487G>T	ENST00000328843.6	+	52	8368		c.e52-1		DNAH11_ENST00000409508.3_Splice_Site			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCATCCTGCAGGGTATAGATA	0.493									Kartagener syndrome				3	15					0.115264	0.116559	1	0	T	21784487	G	T	21784487	5	4	239	1	0	0	0	0	0	0	1	0	4636	1014	35	4	8540	4	DNAH11	7	21784487	Splice_Site	SNP	G	TCGA-CV-5973-01A-11D-1683-08	7848858	21784487	137354176	27	43446											
SLC4A2	6522	broad.mit.edu	37	chr7	150772826	150772826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatctgctgctcatgccGcccaaacaccacccagatgt	9	8	7	17	1	2	1	1	0	1	1	2	1	2	1	4	0	5	3	4	0	1	0			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr7:150772826G>A	ENST00000485713.1	+	21	4475	c.3435G>A	c.(3433-3435)ccG>ccA	p.P1145P	SLC4A2_ENST00000461735.1_Silent_p.P1131P|SLC4A2_ENST00000392826.2_Silent_p.P1136P|SLC4A2_ENST00000310317.5_Silent_p.P1063P|SLC4A2_ENST00000413384.2_Silent_p.P1145P|RP11-148K1.12_ENST00000485974.1_RNA	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1145	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			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)		TGCTCATGCCGCCCAAACACC	0.582													14	41					0	0	0	0	A	150772826	G	A	150772826	2	1	239	1	0	0	0	0	0	0	0	1	14742	1074	38	1		1	SLC4A2	7	150772826	Silent	SNP	G	TCGA-CV-5973-01A-11D-1683-08	128988339	150772826	8365837	28	43447											
PDLIM2	64236	broad.mit.edu	37	chr8	22438929	22438929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaaggacgctgacctccGgcctggagacataatcgtgg	10	6	13	12	3	0	2	0	1	0	1	2	4	1	3	4	4	1	1	4	4	2	1			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr8:22438929G>A	ENST00000265810.4	+	2	246	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	PDLIM2_ENST00000409141.1_Missense_Mutation_p.R44Q|PDLIM2_ENST00000397761.2_Missense_Mutation_p.R44Q|PDLIM2_ENST00000397760.4_Missense_Mutation_p.R44Q|PDLIM2_ENST00000339162.7_Missense_Mutation_p.R44Q|PDLIM2_ENST00000308354.7_Missense_Mutation_p.R294Q|PDLIM2_ENST00000409417.1_Missense_Mutation_p.R44Q	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	44	PDZ.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GCTGACCTCCGGCCTGGAGAC	0.662													6	9					0	0	0	0	A	22438929	G	A	22438929	3	1	239	1	0	0	0	0	1	0	0	0	11751	1116	39	1	137	1	PDLIM2	8	22438929	Missense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08		22438929	123925093	29	43448											
PRKDC	5591	broad.mit.edu	37	chr8	48852134	48852134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaaagtccatatccacGgatagcaatagataactcct	16	9	6	10	1	0	1	0	0	0	1	3	2	3	2	3	1	3	2	3	1	7	4			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr8:48852134G>A	ENST00000314191.2	-	11	1146	c.1090C>T	c.(1090-1092)Cgt>Tgt	p.R364C	PRKDC_ENST00000338368.3_Missense_Mutation_p.R364C|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	364					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCATATCCACGGATAGCAATA	0.338								Non-homologous end-joining					28	87					0	0	0	0	A	48852134	G	A	48852134	3	1	239	1	0	0	0	0	1	0	0	0	12601	1116	39	1	11599	1	PRKDC	8	48852134	Missense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08	26413205	48852134	97511888	30	43449											
CDKN2A	1029	broad.mit.edu	37	chr9	21974755	21974758	+	Frame_Shift_Del	DEL	CCGA	CCGA	-																															agcgcccgcacctcctctacCcgaccccgggccgcggccgt																								rs104894097		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:21974755_21974758delCCGA	ENST00000304494.5	-	1	339_342	c.69_72delTCGG	c.(67-72)ggfs	p.GR23fs	CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.GR23fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.GR23fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.GR23fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	23			G -> D (in a pancreas tumor and a melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.R24P(2)|p.0(1)|p.R24fs*20(1)|p.R22fs*14(1)|p.G23G(1)|p.R24Q(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTCCTCTACCCGACCCCGGGCCG	0.74		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	17	---	---	---	---					-	21974758	CCGA	-	21974755	7	5	239	1	0	1	0	1	0	0	0	0	3190	610	22	0	611	0	CDKN2A	9	21974755	Frame_Shift_Del	DEL	CCGA	TCGA-CV-5973-01A-11D-1683-08		21974755	119238676	31	43450											
FOXB2	442425	broad.mit.edu	37	chr9	79635500	79635500	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccagcttggcaacgtcgtCagctccgtgtggccgcacgt	5	8	14	14	5	1	0	1	0	0	0	3	0	2	0	3	3	3	4	3	3	1	1			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:79635500C>T	ENST00000376708.1	+	1	930	c.930C>T	c.(928-930)gtC>gtT	p.V310V		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	310					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						GCAACGTCGTCAGCTCCGTGT	0.721													6	9					0	0	0	0	T	79635500	C	T	79635500	2	4	239	1	0	0	0	0	0	0	0	1	6038	813	29	2		2	FOXB2	9	79635500	Silent	SNP	C	TCGA-CV-5973-01A-11D-1683-08	57660745	79635500	61577931	32	43451											
LRRC8A	56262	broad.mit.edu	37	chr9	131678563	131678563	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcccactgctcaagcgcagCggcttggtggtggaggagga	7	7	17	10	2	1	0	1	0	0	0	1	3	1	3	1	6	4	3	1	6	1	1	rs139232646		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:131678563C>T	ENST00000259324.5	+	4	2869	c.2346C>T	c.(2344-2346)agC>agT	p.S782S	LRRC8A_ENST00000372599.3_Silent_p.S782S|LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372600.4_Silent_p.S782S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	782					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TCAAGCGCAGCGGCTTGGTGG	0.682													6	12					0	0	0	0	T	131678563	C	T	131678563	2	4	239	1	0	0	0	0	0	0	0	1	9085	767	27	1		1	LRRC8A	9	131678563	Silent	SNP	C	TCGA-CV-5973-01A-11D-1683-08	52043063	131678563	9534868	33	43452											
NOTCH1	4851	broad.mit.edu	37	chr9	139393696	139393696	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatccaggtctgtggctcGgttccggatcaggatctggg	5	10	16	10	2	3	0	1	0	2	0	6	2	5	2	2	7	0	3	2	7	0	1			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr9:139393696G>A	ENST00000277541.6	-	32	6025	c.5950C>T	c.(5950-5952)Cga>Tga	p.R1984*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1984					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.R1984*(1)|p.R1985*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCTGTGGCTCGGTTCCGGATC	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			16	15					0	0	0	0	A	139393696	G	A	139393696	4	1	239	1	0	0	0	0	0	1	0	0	10617	1124	39	1	1729	1	NOTCH1	9	139393696	Nonsense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08	7715133	139393696	1819735	34	43453											
ZMYND11	10771	broad.mit.edu	37	chr10	294963	294963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtaaggaagaatttgtaGaagaaatcaagaagctggca	18	8	12	3	0	1	4	1	0	0	4	1	5	1	5	0	2	1	4	0	2	8	3			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr10:294963G>C	ENST00000397962.3	+	14	2049	c.1621G>C	c.(1621-1623)Gaa>Caa	p.E541Q	ZMYND11_ENST00000381604.4_Missense_Mutation_p.E501Q|ZMYND11_ENST00000535374.1_Missense_Mutation_p.E336Q|ZMYND11_ENST00000381591.1_Missense_Mutation_p.E541Q|ZMYND11_ENST00000402736.1_Missense_Mutation_p.E510Q|ZMYND11_ENST00000397959.3_Missense_Mutation_p.E456Q|ZMYND11_ENST00000309776.4_Missense_Mutation_p.E501Q|ZMYND11_ENST00000602682.1_Missense_Mutation_p.E456Q|ZMYND11_ENST00000381584.1_Missense_Mutation_p.E524Q|ZMYND11_ENST00000381602.4_Missense_Mutation_p.E501Q|ZMYND11_ENST00000558098.2_Missense_Mutation_p.E541Q|ZMYND11_ENST00000381607.4_Missense_Mutation_p.E447Q|ZMYND11_ENST00000545619.1_Missense_Mutation_p.E421Q|ZMYND11_ENST00000403354.1_Missense_Mutation_p.E461Q|ZMYND11_ENST00000509513.2_Missense_Mutation_p.E540Q			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	501					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGAATTTGTAGAAGAAATCAA	0.388													5	35					0	0	0	0	C	294963	G	C	294963	3	2	239	1	0	0	0	0	1	0	0	0	17801	943	33	2	1671	2	ZMYND11	10	294963	Missense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08		294963	135239784	35	43454											
BMS1	9790	broad.mit.edu	37	chr10	43316394	43316394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttaaggccctatcactcCacagggaactggtttcttgg	8	12	9	12	0	2	0	1	0	1	0	3	1	3	1	3	4	1	1	3	4	3	5			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr10:43316394C>T	ENST00000374518.4	+	18	3026	c.2963C>T	c.(2962-2964)cCa>cTa	p.P988L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	988					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTATCACTCCACAGGGAACT	0.358													30	23					0	0	0	0	T	43316394	C	T	43316394	3	4	239	1	0	0	0	0	1	0	0	0	1477	594	21	4	3029	4	BMS1	10	43316394	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08	43021431	43316394	92218353	36	43455											
FJX1	24147	broad.mit.edu	37	chr11	35641069	35641069	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaccgacttaatccttttCgactacctgacggccaactt	9	12	7	13	3	0	1	0	1	0	0	2	4	1	2	4	2	2	0	4	2	3	5	rs77030854		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:35641069C>T	ENST00000317811.4	+	1	1335	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	295						extracellular space				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				TAATCCTTTTCGACTACCTGA	0.647													7	38					0	0	0	0	T	35641069	C	T	35641069	2	4	239	1	0	0	0	0	0	0	0	1	5946	883	31	1		1	FJX1	11	35641069	Silent	SNP	C	TCGA-CV-5973-01A-11D-1683-08		35641069	99365447	37	43456											
MYBPC3	4607	broad.mit.edu	37	chr11	47354867	47354867	+	Frame_Shift_Del	DEL	G	G	-																															gtcagtcacccggagatcctGgggaggacttggcttgtctg																										TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:47354867delG	ENST00000399249.2	-	29	3262	c.3208delC	c.(3208-3210)agfs	p.Q1070fs	MYBPC3_ENST00000545968.1_Frame_Shift_Del_p.Q1070fs|MYBPC3_ENST00000256993.4_Frame_Shift_Del_p.Q1069fs			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1069	Fibronectin type-III 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CGGAGATCCTGGGGAGGACTT	0.637													2	4	---	---	---	---					-	47354867	G	-	47354867	7	5	239	1	0	1	0	1	0	0	0	0	10083	1357	47	0	636	0	MYBPC3	11	47354867	Frame_Shift_Del	DEL	G	TCGA-CV-5973-01A-11D-1683-08	11713798	47354867	87651649	38	43457											
MS4A2	2206	broad.mit.edu	37	chr11	59860935	59860935	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggggaacgggaattaccatCctgatcatcaacctgaagaa	14	7	11	9	1	2	3	2	2	0	1	3	5	3	5	3	3	3	0	3	3	6	1			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:59860935C>T	ENST00000278888.3	+	5	543	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	147					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GAATTACCATCCTGATCATCA	0.478													28	83					0	0	0	0	T	59860935	C	T	59860935	2	4	239	1	0	0	0	0	0	0	0	1	9930	845	30	2		2	MS4A2	11	59860935	Silent	SNP	C	TCGA-CV-5973-01A-11D-1683-08	12506068	59860935	75145581	39	43458											
NRXN2	9379	broad.mit.edu	37	chr11	64419615	64419615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgccccgcaaacagcgtttCggggcctttacctgcggcac	6	8	12	15	4	0	0	0	0	0	0	1	0	0	0	4	3	5	3	4	3	2	3			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:64419615C>T	ENST00000265459.6	-	13	2889	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	NRXN2_ENST00000409571.1_Missense_Mutation_p.E803K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E810K|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.E770K	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	810	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding	p.E810K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AACAGCGTTTCGGGGCCTTTA	0.577													6	42					0	0	0	0	T	64419615	C	T	64419615	3	4	239	1	0	0	0	0	1	0	0	0	10737	893	31	1	3023	1	NRXN2	11	64419615	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08	4558680	64419615	70586901	40	43459											
ARAP1	116985	broad.mit.edu	37	chr11	72412741	72412741	+	Frame_Shift_Del	DEL	T	T	-																															gcttgccggcagaggcagtcTtgtagaggaagccactgtgg																										TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr11:72412741delT	ENST00000359373.5	-	16	3106	c.2255delA	c.(2254-2256)agfs	p.K752fs	ARAP1_ENST00000429686.1_Frame_Shift_Del_p.K446fs|ARAP1_ENST00000455638.2_Frame_Shift_Del_p.K752fs|ARAP1_ENST00000426523.1_Frame_Shift_Del_p.K507fs|ARAP1_ENST00000393609.3_Frame_Shift_Del_p.K752fs|ARAP1_ENST00000334211.8_Frame_Shift_Del_p.K507fs|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000393605.3_Frame_Shift_Del_p.K512fs			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	752	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGAGGCAGTCTTGTAGAGGAA	0.627													279	195	---	---	---	---					-	72412741	T	-	72412741	7	5	239	1	0	1	0	1	0	0	0	0	840	1609	56	0	2177	0	ARAP1	11	72412741	Frame_Shift_Del	DEL	T	TCGA-CV-5973-01A-11D-1683-08	7993126	72412741	62593775	41	43460											
GNB3	2784	broad.mit.edu	37	chr12	6954826	6954826	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgacctgcgggcagaccAggagctgatctgcttctccc	6	10	12	13	1	2	3	0	2	2	1	3	4	2	4	3	2	3	4	3	2	0	2			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:6954826A>G	ENST00000229264.3	+	10	1181	c.776A>G	c.(775-777)cAg>cGg	p.Q259R	GNB3_ENST00000435982.2_Missense_Mutation_p.Q258R|CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	259					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CGGGCAGACCAGGAGCTGATC	0.617													69	117					0	0	0	0	G	6954826	A	G	6954826	3	3	239	1	0	0	0	0	1	0	0	0	6570	188	7	5	806	5	GNB3	12	6954826	Missense_Mutation	SNP	A	TCGA-CV-5973-01A-11D-1683-08		6954826	126897069	42	43461											
TUBA1B	10376	broad.mit.edu	37	chr12	49522572	49522572	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actacagctgtggaaacctgGggtgctgggtaaatggagaa	12	8	15	6	0	0	1	0	0	0	1	0	3	0	2	1	5	4	3	1	5	5	2			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:49522572G>A	ENST00000336023.5	-	4	619	c.525C>T	c.(523-525)ccC>ccT	p.P175P	RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	175					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						TGGAAACCTGGGGTGCTGGGT	0.537													4	27					0	0	0	0	A	49522572	G	A	49522572	2	1	239	1	0	0	0	0	0	0	0	1	16840	1219	43	4		4	TUBA1B	12	49522572	Silent	SNP	G	TCGA-CV-5973-01A-11D-1683-08	42567746	49522572	84329323	43	43462											
CPM	1368	broad.mit.edu	37	chr12	69264160	69264160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggaaatttcgattcaagtCatactggttataattttccc	11	15	8	7	1	2	0	2	0	0	0	4	2	3	1	1	3	1	1	1	3	5	7			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:69264160C>T	ENST00000551568.1	-	5	511	c.451G>A	c.(451-453)Gac>Aac	p.D151N	CPM_ENST00000546373.1_Missense_Mutation_p.D151N|CPM_ENST00000338356.3_Missense_Mutation_p.D151N	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	151					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CGATTCAAGTCATACTGGTTA	0.388													23	24					0	0	0	0	T	69264160	C	T	69264160	3	4	239	1	0	0	0	0	1	0	0	0	3838	826	29	2	900	2	CPM	12	69264160	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08	19741588	69264160	64587735	44	43463											
NAV3	89795	broad.mit.edu	37	chr12	78400845	78400845	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcttgatccctaagggCagcaagacaacagcagctaa	15	5	10	11	0	0	2	0	1	0	1	1	2	1	2	1	1	5	6	1	1	5	3			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr12:78400845C>A	ENST00000397909.2	+	8	1700	c.1527C>A	c.(1525-1527)ggC>ggA	p.G509G	NAV3_ENST00000266692.7_Silent_p.G509G|NAV3_ENST00000536525.2_Silent_p.G509G|NAV3_ENST00000228327.6_Silent_p.G509G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	509						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCCCTAAGGGCAGCAAGACAA	0.423										HNSCC(70;0.22)			14	40					7.93312e-07	8.39977e-07	1	0	A	78400845	C	A	78400845	2	1	239	1	0	0	0	0	0	0	0	1	10255	697	25	4		4	NAV3	12	78400845	Silent	SNP	C	TCGA-CV-5973-01A-11D-1683-08	9136685	78400845	55451050	45	43464											
RNASE13	440163	broad.mit.edu	37	chr14	21502302	21502302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaccattacaatagcccCggaaaccctttgggtagtta	12	10	8	11	1	1	1	1	0	0	1	1	2	1	2	4	2	3	2	4	2	6	5	rs146892669	by1000genomes	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:21502302C>T	ENST00000382951.3	-	2	283	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	49						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.R49Q(1)		cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		ACAATAGCCCCGGAAACCCTT	0.468													78	44					0	0	0	0	T	21502302	C	T	21502302	3	4	239	1	0	0	0	0	1	0	0	0	13488	652	23	1	328	1	RNASE13	14	21502302	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08		21502302	85847238	46	43465											
FSCB	84075	broad.mit.edu	37	chr14	44975348	44975348	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagcaggtctgggctcCgctttagcagtggcctcttc	4	13	11	13	1	4	0	1	0	3	0	6	0	5	0	2	3	2	4	2	3	1	4			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:44975348C>T	ENST00000340446.4	-	1	1134	c.843G>A	c.(841-843)gcG>gcA	p.A281A		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	281						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GTCTGGGCTCCGCTTTAGCAG	0.478													18	40					0	0	0	0	T	44975348	C	T	44975348	2	4	239	1	0	0	0	0	0	0	0	1	6114	639	23	1		1	FSCB	14	44975348	Silent	SNP	C	TCGA-CV-5973-01A-11D-1683-08	23473046	44975348	62374192	47	43466											
AHSA1	10598	broad.mit.edu	37	chr14	77926055	77926055	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcaagtgtgaggtgacGgaagtgagtaagcttgatgg	12	8	18	3	1	0	4	0	4	0	0	0	6	0	5	0	4	1	3	0	4	4	2	rs146186794	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:77926055G>A	ENST00000216479.3	+	2	337	c.177G>A	c.(175-177)acG>acA	p.T59T	AHSA1_ENST00000555517.1_Silent_p.T59T|AHSA1_ENST00000535854.2_Silent_p.T59T	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	59					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GTGAGGTGACGGAAGTGAGTA	0.448													74	56					0	0	0	0	A	77926055	G	A	77926055	2	1	239	1	0	0	0	0	0	0	0	1	418	1103	39	1		1	AHSA1	14	77926055	Silent	SNP	G	TCGA-CV-5973-01A-11D-1683-08	32950707	77926055	29423485	48	43467											
CDC42BPB	9578	broad.mit.edu	37	chr14	103452874	103452875	+	In_Frame_Ins	INS	-	-	TCA																															ccaaagtcagccaggcggatINSatgaccattcacgtccaaaa																										TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr14:103452874_103452875insTCA	ENST00000361246.2	-	6	927_928	c.639_640insTGA	c.(637-642)catccg>caTGAtccg	p.213_214HP>HDP		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	213	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCCAGGCGGATATGACCATTCA	0.376													87	69	---	---	---	---					TCA	103452875	-	TCA	103452874	7	5	239	1	0	1	1	0	0	0	0	0	3102	1406	49	0	4623	0	CDC42BPB	14	103452874	In_Frame_Ins	INS	-	TCGA-CV-5973-01A-11D-1683-08	25526819	103452874	3896666	49	43468											
TLN2	83660	broad.mit.edu	37	chr15	63054621	63054621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacattcccatacagtgtccGactccatcaagagtctcatc	11	10	6	14	1	2	1	2	0	1	1	7	3	5	1	3	0	1	0	3	0	2	2			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr15:63054621G>A	ENST00000561311.1	+	38	5160	c.4930G>A	c.(4930-4932)Gac>Aac	p.D1644N	TLN2_ENST00000472902.1_Missense_Mutation_p.D37N|TLN2_ENST00000306829.6_Missense_Mutation_p.D1644N			Q9Y4G6	TLN2_HUMAN	talin 2	1644					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.D1644N(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TACAGTGTCCGACTCCATCAA	0.557													39	91					0	0	0	0	A	63054621	G	A	63054621	3	1	239	1	0	0	0	0	1	0	0	0	16042	1058	37	1	5072	1	TLN2	15	63054621	Missense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08		63054621	39476771	50	43469											
HEXA	3073	broad.mit.edu	37	chr15	72641550	72641550	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattcactggtccaaaggTgccagagggctcagacccag	10	6	14	11	0	2	2	2	0	0	2	3	3	3	3	3	4	1	1	3	4	1	1			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr15:72641550T>C	ENST00000268097.5	-	8	1359	c.856A>G	c.(856-858)Acc>Gcc	p.T286A	RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.T113A|HEXA_ENST00000457859.2_Missense_Mutation_p.T94A|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.T297A|HEXA_ENST00000567159.1_Missense_Mutation_p.T286A	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	286					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	p.T286A(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GGTCCAAAGGTGCCAGAGGGC	0.443													25	25					0	0	0	0	C	72641550	T	C	72641550	3	2	239	1	0	0	0	0	1	0	0	0	7123	1696	59	5	761	5	HEXA	15	72641550	Missense_Mutation	SNP	T	TCGA-CV-5973-01A-11D-1683-08	9586929	72641550	29889842	51	43470											
IRX6	79190	broad.mit.edu	37	chr16	55360387	55360387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctgggcagtgcgcgacCggagctgggcgccgccttgg	4	6	18	13	5	0	0	0	0	0	0	0	2	0	1	3	4	3	3	3	4	0	1			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:55360387C>T	ENST00000290552.7	+	2	1517	c.185C>T	c.(184-186)cCg>cTg	p.P62L	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	62						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AGTGCGCGACCGGAGCTGGGC	0.667													7	23					0	0	0	0	T	55360387	C	T	55360387	3	4	239	1	0	0	0	0	1	0	0	0	7901	652	23	1	191	1	IRX6	16	55360387	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08		55360387	34994366	52	43471											
PRSS54	221191	broad.mit.edu	37	chr16	58324903	58324903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgctgaggacccagaactCgctcaggatgcagccgaaag	12	5	13	11	2	1	2	1	1	0	1	2	6	1	4	2	2	4	3	2	2	2	0	rs142664927	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:58324903C>T	ENST00000219301.4	-	4	617	c.223G>A	c.(223-225)Gag>Aag	p.E75K	PRSS54_ENST00000567164.1_Missense_Mutation_p.E75K|PRSS54_ENST00000543437.1_Intron	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	75	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.E75K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACCCAGAACTCGCTCAGGATG	0.647													15	54					0	0	0	0	T	58324903	C	T	58324903	3	4	239	1	0	0	0	0	1	0	0	0	12712	893	31	1	980	1	PRSS54	16	58324903	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08	2964516	58324903	32029850	53	43472											
HYDIN	54768	broad.mit.edu	37	chr16	71025263	71025263	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgtttttcttagttctttTtcttcaggcctggcatcttc	3	22	6	10	1	5	0	1	0	4	0	7	0	5	0	1	2	0	3	1	2	1	9			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:71025263T>C	ENST00000393567.2	-	25	3972	c.3822A>G	c.(3820-3822)gaA>gaG	p.E1274E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1274										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTAGTTCTTTTTCTTCAGGCC	0.468													23	28					0	0	0	0	C	71025263	T	C	71025263	2	2	239	1	0	0	0	0	0	0	0	1	7520	1838	64	5		5	HYDIN	16	71025263	Silent	SNP	T	TCGA-CV-5973-01A-11D-1683-08	12700360	71025263	19329490	54	43473											
CENPBD1	92806	broad.mit.edu	37	chr16	90038224	90038224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgactgagcttctcacccGcttcaaatcgtcgtaacact	9	12	6	14	3	3	2	2	2	2	0	6	2	3	2	1	0	2	3	1	0	2	3			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr16:90038224G>A	ENST00000314994.3	-	1	718	c.107C>T	c.(106-108)gCg>gTg	p.A36V	RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	36	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|lung(2)	3						CTTCTCACCCGCTTCAAATCG	0.468													12	25					0	0	0	0	A	90038224	G	A	90038224	3	1	239	1	0	0	0	0	1	0	0	0	3257	1087	38	1	460	1	CENPBD1	16	90038224	Missense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08	19012961	90038224	316529	55	43474											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	4					0	0	0	0	A	7577094	G	A	7577094	3	1	239	1	0	0	0	0	1	0	0	0	16476	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08		7577094	73618116	56	43475											
HSF5	124535	broad.mit.edu	37	chr17	56536136	56536136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataatccttaccaggggaCtttccttgttgtgagttgct	8	15	9	9	0	0	1	0	1	0	0	2	2	2	2	3	2	2	3	3	2	3	6			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr17:56536136C>T	ENST00000323777.3	-	5	1822	c.1713G>A	c.(1711-1713)aaG>aaA	p.K571K		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	571						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACCAGGGGACTTTCCTTGTT	0.418													16	28					0	0	0	0	T	56536136	C	T	56536136	2	4	239	1	0	0	0	0	0	0	0	1	7449	564	20	4		4	HSF5	17	56536136	Silent	SNP	C	TCGA-CV-5973-01A-11D-1683-08	48959042	56536136	24659074	57	43476											
KIAA1468	57614	broad.mit.edu	37	chr18	59928798	59928798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatgtatctttctgccttgCagtccttgatcccatctctc	6	16	5	14	0	3	1	0	1	3	0	7	1	5	1	3	0	2	2	3	0	1	4			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr18:59928798C>A	ENST00000256858.6	+	16	2505	c.2257C>A	c.(2257-2259)Cag>Aag	p.Q753K	KIAA1468_ENST00000398130.2_Missense_Mutation_p.Q753K			Q9P260	K1468_HUMAN	KIAA1468	753							binding	p.Q753K(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTCTGCCTTGCAGTCCTTGAT	0.433													10	36					3.86212e-05	4.04175e-05	1	0	A	59928798	C	A	59928798	3	1	239	1	0	0	0	0	1	0	0	0	8287	711	25	4	2319	4	KIAA1468	18	59928798	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08		59928798	18148450	58	43477											
ZNF560	147741	broad.mit.edu	37	chr19	9579792	9579792	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcttaccaactgtatccCatttaatgtttttaaacaaa	15	16	2	8	0	1	0	0	0	1	0	2	0	2	0	2	0	3	2	2	0	8	8			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:9579792C>A	ENST00000301480.4	-	9	814	c.601G>T	c.(601-603)Ggg>Tgg	p.G201W		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AACTGTATCCCATTTAATGTT	0.343													3	14					0.004672	0.0048331	1	0	A	9579792	C	A	9579792	3	1	239	1	0	0	0	0	1	0	0	0	18086	594	21	4	1779	4	ZNF560	19	9579792	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08		9579792	49549191	59	43478											
HOMER3	9454	broad.mit.edu	37	chr19	19043825	19043825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttttcctcgccggggccGttggcactgacgagagggct	5	10	15	11	4	0	2	0	1	0	1	2	3	1	2	3	4	0	4	3	4	0	3			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:19043825G>A	ENST00000596918.1	-	2	124	c.125C>T	c.(124-126)aCg>aTg	p.T42M	HOMER3_ENST00000542541.2_Silent_p.N147N|HOMER3_ENST00000221222.11_Silent_p.N147N|HOMER3_ENST00000433218.2_Silent_p.N147N|HOMER3_ENST00000392351.3_Silent_p.N147N|HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000594439.1_Silent_p.N111N|HOMER3_ENST00000355887.6_Silent_p.N147N|HOMER3_ENST00000539827.1_Silent_p.N147N																							CGCCGGGGCCGTTGGCACTGA	0.632													26	79					0	0	0	0	A	19043825	G	A	19043825	3	1	239	1	0	0	0	0	1	0	0	0	7330	1136	40	1	664	1	HOMER3	19	19043825	Missense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08	9464033	19043825	40085158	60	43479											
ZNF99	7652	broad.mit.edu	37	chr19	22942355	22942355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttaccctcattgacaCtttcacaatcttttcttaat	10	17	2	12	0	5	1	2	1	3	0	5	1	5	1	1	0	1	1	1	0	3	6			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:22942355C>T	ENST00000397104.3	-	4	418	c.419G>A	c.(418-420)aGt>aAt	p.S140N	ZNF99_ENST00000596209.1_Missense_Mutation_p.S119N					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTCATTGACACTTTCACAATC	0.328													9	42					0	0	0	0	T	22942355	C	T	22942355	3	4	239	1	0	0	0	0	1	0	0	0	18297	565	20	4	2709	4	ZNF99	19	22942355	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08	3898530	22942355	36186628	61	43480											
PLA2G4C	8605	broad.mit.edu	37	chr19	48578033	48578033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacatggtacctttcctttCggggtcctcatggggctgct	5	13	11	12	1	1	0	1	0	0	0	4	0	3	0	3	5	2	3	3	5	1	3			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:48578033C>T	ENST00000354276.3	-	12	1324	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.E333K|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.E343K|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.E333K	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	333	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCTTTCCTTTCGGGGTCCTCA	0.562													39	125					0	0	0	0	T	48578033	C	T	48578033	3	4	239	1	0	0	0	0	1	0	0	0	12075	893	31	1	656	1	PLA2G4C	19	48578033	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08	25635678	48578033	10550950	62	43481											
ZNF71	58491	broad.mit.edu	37	chr19	57132791	57132791	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaccaggcagctggccaGagaggccgcggggagatgca	10	2	19	10	2	0	2	0	0	0	2	0	5	0	3	3	6	3	3	3	6	1	0			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:57132791G>T	ENST00000328070.6	+	3	370	c.136G>T	c.(136-138)Gag>Tag	p.E46*		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	46						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CAGCTGGCCAGAGAGGCCGCG	0.617													8	28					0.0477658	0.0488513	1	0	T	57132791	G	T	57132791	4	4	239	1	0	0	0	0	0	1	0	0	18209	943	33	2	138	2	ZNF71	19	57132791	Nonsense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08	8554758	57132791	1996192	63	43482											
ZNF304	57343	broad.mit.edu	37	chr19	57865177	57865177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcacagagattcctgtacCgtgatgtgatgctggagaac	11	9	13	8	1	0	4	0	2	0	2	1	6	1	4	2	2	3	3	2	2	2	2			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr19:57865177C>T	ENST00000391705.3	+	3	402	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	ZNF304_ENST00000598744.1_5'UTR|ZNF304_ENST00000443917.2_Missense_Mutation_p.R40C|ZNF304_ENST00000282286.5_Missense_Mutation_p.R40C	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	40	KRAB.				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)		ATTCCTGTACCGTGATGTGAT	0.453													10	65					0	0	0	0	T	57865177	C	T	57865177	3	4	239	1	0	0	0	0	1	0	0	0	17928	652	23	1	124	1	ZNF304	19	57865177	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08	732386	57865177	1263806	64	43483											
PAX1	5075	broad.mit.edu	37	chr20	21695343	21695343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccggcccgcggggtgcaCgcccagccagcccccaggcc	4	2	15	20	4	0	0	0	0	0	0	0	0	0	0	7	4	4	1	7	4	0	0			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr20:21695343C>T	ENST00000398485.2	+	5	1561	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	503					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCGGGGTGCACGCCCAGCCAG	0.682													5	22					0	0	0	0	T	21695343	C	T	21695343	3	4	239	1	0	0	0	0	1	0	0	0	11549	536	19	1	1525	1	PAX1	20	21695343	Missense_Mutation	SNP	C	TCGA-CV-5973-01A-11D-1683-08		21695343	41330177	65	43484											
SRMS	6725	broad.mit.edu	37	chr20	62178692	62178692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggctcggcggggagcgtgGgcactgggtcagtgttgggg	5	7	22	7	3	1	0	1	0	0	0	2	1	1	1	0	8	1	3	0	8	1	1			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr20:62178692G>A	ENST00000217188.1	-	1	165	c.125C>T	c.(124-126)cCc>cTc	p.P42L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	42							ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGGGAGCGTGGGCACTGGGTC	0.697													72	259					0	0	0	0	A	62178692	G	A	62178692	3	1	239	1	0	0	0	0	1	0	0	0	15242	1232	43	4	1373	4	SRMS	20	62178692	Missense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08	40483349	62178692	846828	66	43485											
C2CD2	25966	broad.mit.edu	37	chr21	43327154	43327154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgaggcttggtcttcacaGcagtgacagtagtgaccaca	10	8	12	11	2	2	2	1	2	1	0	2	3	2	2	1	2	1	3	1	2	1	3			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr21:43327154G>A	ENST00000380486.3	-	10	1506	c.1265C>T	c.(1264-1266)gCt>gTt	p.A422V	C2CD2_ENST00000329623.7_Missense_Mutation_p.A267V	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	422						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GGTCTTCACAGCAGTGACAGT	0.582													15	27					0	0	0	0	A	43327154	G	A	43327154	3	1	239	1	0	0	0	0	1	0	0	0	2172	971	34	4	845	4	C2CD2	21	43327154	Missense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08		43327154	4802741	67	43486											
XKR3	150165	broad.mit.edu	37	chr22	17288926	17288926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagatgaaactcctcctGtgctttcttcatccatctct	8	15	5	13	1	3	2	1	1	2	1	8	3	6	2	3	0	2	1	3	0	2	2			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr22:17288926G>T	ENST00000331428.5	-	2	140	c.38C>A	c.(37-39)aCa>aAa	p.T13K		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	13						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AACTCCTCCTGTGCTTTCTTC	0.408													21	48					1.55795e-14	1.70994e-14	1	0	T	17288926	G	T	17288926	3	4	239	1	0	0	0	0	1	0	0	0	17528	1377	48	4	1353	4	XKR3	22	17288926	Missense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08		17288926	34015640	68	43487											
SEC14L2	23541	broad.mit.edu	37	chr22	30803469	30803469	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggctgcccagtctggtaCgacataattggacctctgga	9	10	12	10	1	2	0	0	0	2	0	2	4	2	2	2	4	2	2	2	4	2	3	rs144595900	byFrequency	TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr22:30803469C>T	ENST00000312932.9	+	5	560	c.300C>T	c.(298-300)taC>taT	p.Y100Y	SEC14L2_ENST00000405717.3_Silent_p.Y100Y|SEC14L2_ENST00000403484.1_Silent_p.Y26Y|SEC14L2_ENST00000459728.1_3'UTR|SEC14L2_ENST00000402592.3_Intron	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	100	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CAGTCTGGTACGACATAATTG	0.557													40	82					0	0	0	0	T	30803469	C	T	30803469	2	4	239	1	0	0	0	0	0	0	0	1	14069	547	19	1		1	SEC14L2	22	30803469	Silent	SNP	C	TCGA-CV-5973-01A-11D-1683-08	13514543	30803469	20501097	69	43488											
PLXNB2	23654	broad.mit.edu	37	chr22	50720458	50720458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctcctcaggcacagccgggGacaggaagacgaccttggtg	9	5	15	12	2	1	1	1	0	0	1	2	4	2	3	3	5	1	2	3	5	1	1			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chr22:50720458G>A	ENST00000449103.1	-	20	3310	c.3170C>T	c.(3169-3171)tCc>tTc	p.S1057F	PLXNB2_ENST00000359337.4_Missense_Mutation_p.S1057F			O15031	PLXB2_HUMAN	plexin B2	1057	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACAGCCGGGGACAGGAAGAC	0.647													7	21					0	0	0	0	A	50720458	G	A	50720458	3	1	239	1	0	0	0	0	1	0	0	0	12196	1174	41	2	2418	2	PLXNB2	22	50720458	Missense_Mutation	SNP	G	TCGA-CV-5973-01A-11D-1683-08	19916989	50720458	584108	70	43489											
RGAG4	340526	broad.mit.edu	37	chrX	71350464	71350464	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgggaacgcgcactttTctttctatctccacacattc	7	14	7	13	2	3	0	0	0	3	0	5	1	3	1	1	2	1	2	1	2	2	6			TCGA-CV-5973-01A-11D-1683-08	TCGA-CV-5973-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b848fbad-1eb3-4bc2-9006-2d0ca559cee8	1c5d37a1-9387-42cb-9d2f-623b97247fad	g.chrX:71350464T>G	ENST00000545866.1	-	1	1294	c.927A>C	c.(925-927)agA>agC	p.R309S	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.R309S			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	309										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CGCGCACTTTTCTTTCTATCT	0.483													40	74					0	0	0	0	G	71350464	T	G	71350464	3	3	239	1	0	0	0	0	1	0	0	0	13357	1780	62	5	786	5	RGAG4	23	71350464	Missense_Mutation	SNP	T	TCGA-CV-5973-01A-11D-1683-08		71350464	83920096	71	43490											
PRDM2	7799	broad.mit.edu	37	chr1	14106924	14106924	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcctacgtgtagtgctgtAaagaaaaggaaaccaaccac	16	6	9	10	1	0	1	0	0	0	1	0	2	0	2	3	1	5	3	3	1	8	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:14106924A>G	ENST00000235372.7	+	8	3490	c.2634A>G	c.(2632-2634)gtA>gtG	p.V878V	PRDM2_ENST00000311066.5_Silent_p.V878V|PRDM2_ENST00000413440.1_Silent_p.V677V|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Silent_p.V677V|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	878						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTAGTGCTGTAAAGAAAAGGA	0.423													26	68					0	0	0	0	G	14106924	A	G	14106924	2	3	240	1	0	0	0	0	0	0	0	1	12538	349	13	5		5	PRDM2	1	14106924	Silent	SNP	A	TCGA-CV-5976-01A-11D-1683-08		14106924	235143697	1	43491											
PDIK1L	149420	broad.mit.edu	37	chr1	26448944	26448944	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgaagaaaaaatctatgaAtgggcgaatgaaacaactga	19	8	10	4	1	1	5	0	4	1	1	1	6	1	5	0	1	2	0	0	1	9	1			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:26448944A>G	ENST00000374271.4	+	4	1189	c.902A>G	c.(901-903)aAt>aGt	p.N301S	PDIK1L_ENST00000374269.1_Missense_Mutation_p.N301S	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	301	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		AAATCTATGAATGGGCGAATG	0.398													21	45					0	0	0	0	G	26448944	A	G	26448944	3	3	240	1	0	0	0	0	1	0	0	0	11744	101	4	5	908	5	PDIK1L	1	26448944	Missense_Mutation	SNP	A	TCGA-CV-5976-01A-11D-1683-08	12342020	26448944	222801677	2	43492											
MAP3K6	9064	broad.mit.edu	37	chr1	27682581	27682581	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaccaggccctggtccgttGaaagagcagctgtcaagaag	11	6	13	11	1	1	3	1	1	0	2	2	3	2	3	3	2	2	4	3	2	3	1			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:27682581G>C	ENST00000493901.1	-	28	3886	c.3647C>G	c.(3646-3648)tCa>tGa	p.S1216*	MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.S1216*|MAP3K6_ENST00000374040.3_Nonsense_Mutation_p.S1208*	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1216					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGTCCGTTGAAAGAGCAGC	0.562													14	41					0	0	0	0	C	27682581	G	C	27682581	4	2	240	1	0	0	0	0	0	1	0	0	9323	1294	45	2	231	2	MAP3K6	1	27682581	Nonsense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	1233637	27682581	221568040	3	43493											
EPHA10	284656	broad.mit.edu	37	chr1	38227606	38227606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgcagtcacggagtgtGaactgcagttccacgaagat	10	9	12	10	2	1	2	1	1	0	1	2	4	2	3	1	1	4	4	1	1	2	1			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:38227606G>A	ENST00000373048.4	-	3	320	c.321C>T	c.(319-321)ttC>ttT	p.F107F	EPHA10_ENST00000427468.2_Silent_p.F107F|EPHA10_ENST00000319637.6_Silent_p.F107F	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	107						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)				CACGGAGTGTGAACTGCAGTT	0.622													41	101					0	0	0	0	A	38227606	G	A	38227606	2	1	240	1	0	0	0	0	0	0	0	1	5204	1281	45	2		2	EPHA10	1	38227606	Silent	SNP	G	TCGA-CV-5976-01A-11D-1683-08	10545025	38227606	211023015	4	43494											
FPGT	8790	broad.mit.edu	37	chr1	74671407	74671407	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcattcagcctgaatagctAtaagttgctgtccattgaag	12	12	9	8	0	1	2	1	2	0	0	2	2	2	2	2	0	4	4	2	0	5	6			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:74671407A>G	ENST00000370898.2	+	4	1713	c.1676A>G	c.(1675-1677)tAt>tGt	p.Y559C	TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.Y305C|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000370894.4_3'UTR|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						CTGAATAGCTATAAGTTGCTG	0.338													17	43					0	0	0	0	G	74671407	A	G	74671407	3	3	240	1	0	0	0	0	1	0	0	0	6084	449	16	5	1690	5	FPGT	1	74671407	Missense_Mutation	SNP	A	TCGA-CV-5976-01A-11D-1683-08	36443801	74671407	174579214	5	43495											
SYPL2	284612	broad.mit.edu	37	chr1	110022065	110022065	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgttcaaggagaccccGtggcatggacagggccaggg	8	8	16	9	1	1	1	1	0	0	1	1	3	1	2	3	5	0	2	3	5	1	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:110022065G>C	ENST00000369872.3	+	6	930	c.714G>C	c.(712-714)ccG>ccC	p.P238P	SYPL2_ENST00000401021.3_Silent_p.P174P	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	238	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGGAGACCCCGTGGCATGGAc	0.582													22	51					0	0	0	0	C	110022065	G	C	110022065	2	2	240	1	0	0	0	0	0	0	0	1	15554	1132	40	3		3	SYPL2	1	110022065	Silent	SNP	G	TCGA-CV-5976-01A-11D-1683-08	35350658	110022065	139228556	6	43496											
MOV10	4343	broad.mit.edu	37	chr1	113240920	113240920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgtccagggctttcccatCatctttcacggcgtaatggg	7	12	10	12	2	3	0	2	0	1	0	5	0	5	0	2	3	0	2	2	3	1	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:113240920C>T	ENST00000369644.1	+	17	3189	c.2160C>T	c.(2158-2160)atC>atT	p.I720I	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Silent_p.I776I|MOV10_ENST00000357443.2_Silent_p.I776I|MOV10_ENST00000413052.2_Silent_p.I776I			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	776					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GCTTTCCCATCATCTTTCACG	0.557													7	28					0	0	0	0	T	113240920	C	T	113240920	2	4	240	1	0	0	0	0	0	0	0	1	9788	816	29	2		2	MOV10	1	113240920	Silent	SNP	C	TCGA-CV-5976-01A-11D-1683-08	3218855	113240920	136009701	7	43497											
POLR3C	10623	broad.mit.edu	37	chr1	145608112	145608113	+	Frame_Shift_Ins	INS	-	-	A																															gttaaaattccttacctatcINSaagctgagtttaggaaccag																										TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:145608112_145608113insA	ENST00000334163.3	-	4	744_745	c.584_585insT	c.(583-585)tatfs	p.Y195fs	POLR3C_ENST00000369294.1_Frame_Shift_Ins_p.Y195fs|POLR3C_ENST00000471254.1_5'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	195					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CCTTACCTATCAAGCTGAGTTT	0.426													23	65	---	---	---	---					A	145608113	-	A	145608112	7	5	240	1	0	1	1	0	0	0	0	0	12302	825	29	0	1067	0	POLR3C	1	145608112	Frame_Shift_Ins	INS	-	TCGA-CV-5976-01A-11D-1683-08	32367192	145608112	103642509	8	43498											
HRNR	388697	broad.mit.edu	37	chr1	152192700	152192700	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggaatgctctgagctagactCgtggtgaccaaagccagaag	12	7	13	9	1	1	4	0	2	1	2	2	5	1	5	2	2	3	2	2	2	4	1	rs147754674		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:152192700C>G	ENST00000368801.2	-	3	1480	c.1405G>C	c.(1405-1407)Gag>Cag	p.E469Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	469					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTAGACTCGTGGTGACCA	0.567													42	109					0	0	0	0	G	152192700	C	G	152192700	3	3	240	1	0	0	0	0	1	0	0	0	7409	893	31	3	7151	3	HRNR	1	152192700	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	6584588	152192700	97057921	9	43499											
HRNR	388697	broad.mit.edu	37	chr1	152192821	152192821	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgacccagacccacgCtggccgtggcctggagactg	6	6	13	16	2	0	3	0	1	0	2	0	4	0	3	5	3	1	1	5	3	0	0			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:152192821C>G	ENST00000368801.2	-	3	1359	c.1284G>C	c.(1282-1284)caG>caC	p.Q428H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	428					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGACCCACGCTGGCCGTGGC	0.612													18	44					0	0	0	0	G	152192821	C	G	152192821	3	3	240	1	0	0	0	0	1	0	0	0	7409	796	28	4	7272	4	HRNR	1	152192821	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	121	152192821	97057800	10	43500											
FCRLB	127943	broad.mit.edu	37	chr1	161697075	161697075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctccaccaccgccccagctCcatgggccgcagccttggct	5	6	9	21	2	0	0	0	0	0	0	2	0	2	0	9	2	2	3	9	2	0	1			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:161697075C>A	ENST00000367948.2	+	8	1119	c.904C>A	c.(904-906)Cca>Aca	p.P302T	FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000336830.5_Missense_Mutation_p.S267Y|FCRLB_ENST00000392158.1_Missense_Mutation_p.P302T|FCRLB_ENST00000367944.3_Missense_Mutation_p.S260Y|FCRLB_ENST00000367945.1_Silent_p.L246L|FCRLB_ENST00000367946.3_Silent_p.L253L			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	302						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CGCCCCAGCTCCATGGGCCGC	0.652													11	36					0.000673444	0.000702224	1	0	A	161697075	C	A	161697075	3	1	240	1	0	0	0	0	1	0	0	0	5846	855	30	2	926	2	FCRLB	1	161697075	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	9504254	161697075	87553546	11	43501											
FCRLB	127943	broad.mit.edu	37	chr1	161697178	161697178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccgtccggaacaccacctCcaccgggctgcagttcccgg	6	6	10	19	4	0	0	0	0	0	0	4	1	4	1	7	3	2	3	7	3	1	1			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:161697178C>T	ENST00000367948.2	+	8	1222	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000392158.1_Missense_Mutation_p.S336F|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367945.1_Missense_Mutation_p.P281S|FCRLB_ENST00000367946.3_Missense_Mutation_p.P288S			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	336						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			AACACCACCTCCACCGGGCTG	0.692													16	30					0	0	0	0	T	161697178	C	T	161697178	3	4	240	1	0	0	0	0	1	0	0	0	5846	855	30	2	1029	2	FCRLB	1	161697178	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	103	161697178	87553443	12	43502											
CACNA1E	777	broad.mit.edu	37	chr1	181701838	181701838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctggacaaccagaggacCcctttgtccctgggccagcg	7	6	12	16	1	0	1	0	0	0	1	1	3	1	3	6	3	2	0	6	3	1	1			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:181701838C>T	ENST00000526775.1	+	19	2724	c.2559C>T	c.(2557-2559)acC>acT	p.T853T	CACNA1E_ENST00000367567.4_Silent_p.T479T|CACNA1E_ENST00000357570.5_Silent_p.T823T|CACNA1E_ENST00000367573.2_Silent_p.T872T|CACNA1E_ENST00000358338.5_Silent_p.T804T|CACNA1E_ENST00000360108.3_Silent_p.T853T|CACNA1E_ENST00000367570.1_Silent_p.T872T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	872					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCAGAGGACCCCTTTGTCCC	0.672													10	14					0	0	0	0	T	181701838	C	T	181701838	2	4	240	1	0	0	0	0	0	0	0	1	2567	610	22	4		4	CACNA1E	1	181701838	Silent	SNP	C	TCGA-CV-5976-01A-11D-1683-08	20004660	181701838	67548783	13	43503											
CR1	1378	broad.mit.edu	37	chr1	207741172	207741172	+	Frame_Shift_Del	DEL	T	T	-																															ttttgtatgttttctagaaaTcttttgtccaagtcctccag																										TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:207741172delT	ENST00000367049.4	+	25	3956	c.3956delT	c.(3955-3957)acfs	p.I1319fs	CR1_ENST00000367051.1_Frame_Shift_Del_p.I869fs|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron|CR1_ENST00000367053.1_Frame_Shift_Del_p.I869fs|CR1_ENST00000400960.2_Frame_Shift_Del_p.I869fs	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	869	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTCTAGAAATCTTTTGTCCA	0.408													18	47	---	---	---	---					-	207741172	T	-	207741172	7	5	240	1	0	1	0	1	0	0	0	0	3870	1435	50	0	4054	0	CR1	1	207741172	Frame_Shift_Del	DEL	T	TCGA-CV-5976-01A-11D-1683-08	26039334	207741172	41509449	14	43504											
PLB1	151056	broad.mit.edu	37	chr2	28761181	28761181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttagcacggttctcctctCacagaatgggcttgcggcgg	7	10	12	12	3	2	1	1	0	2	1	4	1	2	1	1	4	2	3	1	4	2	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:28761181C>T	ENST00000422425.2	+	10	628	c.584C>T	c.(583-585)tCa>tTa	p.S195L	PLB1_ENST00000327757.5_Intron	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	185	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTTCTCCTCTCACAGAATGGG	0.657													3	22					0	0	0	0	T	28761181	C	T	28761181	3	4	240	1	0	0	0	0	1	0	0	0	12096	838	29	2	622	2	PLB1	2	28761181	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08		28761181	214438192	15	43505											
SIX2	10736	broad.mit.edu	37	chr2	45233324	45233324	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttctaggagcccaggtcCacgaggttggctgacatggg	7	8	17	9	1	1	1	0	1	1	0	2	3	2	2	2	6	1	3	2	6	1	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:45233324C>T	ENST00000303077.6	-	2	1180	c.861G>A	c.(859-861)gtG>gtA	p.V287V		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	287						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCCCAGGTCCACGAGGTTGG	0.642													13	56					0	0	0	0	T	45233324	C	T	45233324	2	4	240	1	0	0	0	0	0	0	0	1	14435	581	21	4		4	SIX2	2	45233324	Silent	SNP	C	TCGA-CV-5976-01A-11D-1683-08	16472143	45233324	197966049	16	43506											
APLF	200558	broad.mit.edu	37	chr2	68729908	68729908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcttcagagaagagtcagCtcttaccattgaagccaaat	14	10	8	9	0	4	3	2	1	2	2	4	4	4	3	2	0	3	1	2	0	4	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:68729908C>T	ENST00000303795.4	+	3	385	c.214C>T	c.(214-216)Ctc>Ttc	p.L72F		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	72	FHA-like.				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GAAGAGTCAGCTCTTACCATT	0.303													31	76					0	0	0	0	T	68729908	C	T	68729908	3	4	240	1	0	0	0	0	1	0	0	0	777	797	28	4	224	4	APLF	2	68729908	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	23496584	68729908	174469465	17	43507											
LCT	3938	broad.mit.edu	37	chr2	136546023	136546023	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacaagagaaaagagaacGtacaaagctgtctgtgcttc	16	7	10	8	1	1	2	0	0	1	2	2	4	1	2	0	0	5	4	0	0	6	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:136546023G>A	ENST00000264162.2	-	17	5665	c.5655C>T	c.(5653-5655)taC>taT	p.Y1885Y		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1885					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AAAAGAGAACGTACAAAGCTG	0.522													31	146					0	0	0	0	A	136546023	G	A	136546023	2	1	240	1	0	0	0	0	0	0	0	1	8746	1140	40	1		1	LCT	2	136546023	Silent	SNP	G	TCGA-CV-5976-01A-11D-1683-08	67816115	136546023	106653350	18	43508											
LRP1B	53353	broad.mit.edu	37	chr2	141946119	141946119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtccacaaaatagagatttCgagtgagccagtcaatcgcc	13	8	10	10	2	1	2	1	1	0	1	4	4	2	2	3	1	1	0	3	1	4	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:141946119C>T	ENST00000389484.3	-	7	1855	c.884G>A	c.(883-885)cGa>cAa	p.R295Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	295					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGAGATTTCGAGTGAGCCA	0.408										TSP Lung(27;0.18)			13	26					0	0	0	0	T	141946119	C	T	141946119	3	4	240	1	0	0	0	0	1	0	0	0	9019	884	31	1	13255	1	LRP1B	2	141946119	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	5400096	141946119	101253254	19	43509											
FN1	2335	broad.mit.edu	37	chr2	216298182	216298182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtcaaagcaagtctcttCagctgaggggaaaaggaaag	14	8	12	7	0	3	1	2	1	1	0	4	3	3	3	0	3	2	2	0	3	5	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:216298182C>T	ENST00000354785.4	-	3	649	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	FN1_ENST00000356005.4_Missense_Mutation_p.E94K|FN1_ENST00000443816.1_Missense_Mutation_p.E94K|FN1_ENST00000346544.3_Missense_Mutation_p.E94K|FN1_ENST00000345488.5_Missense_Mutation_p.E94K|FN1_ENST00000336916.4_Missense_Mutation_p.E94K|FN1_ENST00000323926.6_Missense_Mutation_p.E94K|FN1_ENST00000426059.1_Missense_Mutation_p.E94K|FN1_ENST00000432072.2_Missense_Mutation_p.E94K|FN1_ENST00000421182.1_Missense_Mutation_p.E94K|FN1_ENST00000359671.1_Missense_Mutation_p.E94K|FN1_ENST00000446046.1_Missense_Mutation_p.E94K|FN1_ENST00000357867.4_Missense_Mutation_p.E94K|FN1_ENST00000357009.2_Missense_Mutation_p.E94K			P02751	FINC_HUMAN	fibronectin 1	94	Fibrin- and heparin-binding 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAGTCTCTTCAGCTGAGGGG	0.468													10	32					0	0	0	0	T	216298182	C	T	216298182	3	4	240	1	0	0	0	0	1	0	0	0	6007	835	29	2	7362	2	FN1	2	216298182	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	74352063	216298182	26901191	20	43510											
STAB1	23166	broad.mit.edu	37	chr3	52553341	52553341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaccatgaggccgtgaacgGcatcctgcacttcattgacc	9	8	10	14	3	1	3	1	3	0	0	2	4	2	3	4	2	2	2	4	2	1	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr3:52553341G>A	ENST00000321725.6	+	49	5172	c.5096G>A	c.(5095-5097)gGc>gAc	p.G1699D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1699	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.G1699D(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCGTGAACGGCATCCTGCAC	0.642													63	76					0	0	0	0	A	52553341	G	A	52553341	3	1	240	1	0	0	0	0	1	0	0	0	15327	1203	42	4	5290	4	STAB1	3	52553341	Missense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08		52553341	145469089	21	43511											
ARF4	378	broad.mit.edu	37	chr3	57569702	57569702	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccatactgtgaaacaaaTgttcttatattctactgttt	12	17	4	8	0	2	1	0	1	2	0	3	1	3	1	1	0	3	2	1	0	6	7			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr3:57569702T>C	ENST00000303436.6	-	3	448	c.181A>G	c.(181-183)Att>Gtt	p.I61V	ARF4_ENST00000496292.1_Missense_Mutation_p.I34V|ARF4_ENST00000489843.1_Intron|ARF4_ENST00000493378.1_5'UTR	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	61					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity	p.I61V(1)		large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		GTGAAACAAATGTTCTTATAT	0.353													26	35					0	0	0	0	C	57569702	T	C	57569702	3	2	240	1	0	0	0	0	1	0	0	0	848	1464	51	5	377	5	ARF4	3	57569702	Missense_Mutation	SNP	T	TCGA-CV-5976-01A-11D-1683-08	5016361	57569702	140452728	22	43512											
GPR149	344758	broad.mit.edu	37	chr3	154055685	154055685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtatgaggctgtttcccCtaggtcacatgaaacaaatc	12	10	10	9	0	1	2	1	2	0	0	3	3	2	3	2	3	1	3	2	3	4	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr3:154055685C>T	ENST00000389740.2	-	4	2098	c.1999G>A	c.(1999-2001)Ggg>Agg	p.G667R		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	667						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCTGTTTCCCCTAGGTCACAT	0.438													4	143					0	0	0	0	T	154055685	C	T	154055685	3	4	240	1	0	0	0	0	1	0	0	0	6703	681	24	4	200	4	GPR149	3	154055685	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	96485983	154055685	43966745	23	43513											
GABRA4	2557	broad.mit.edu	37	chr4	46930431	46930431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttcccagtagcccctatGgtattaactgtggtctttat	9	15	7	10	0	1	0	0	0	1	0	2	0	2	0	3	2	3	2	3	2	6	7			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:46930431G>A	ENST00000264318.3	-	9	2458	c.1476C>T	c.(1474-1476)acC>acT	p.T492T		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	492					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TAGCCCCTATGGTATTAACTG	0.473													16	77					0	0	0	0	A	46930431	G	A	46930431	2	1	240	1	0	0	0	0	0	0	0	1	6211	1335	47	4		4	GABRA4	4	46930431	Silent	SNP	G	TCGA-CV-5976-01A-11D-1683-08		46930431	144223845	24	43514											
LPHN3	23284	broad.mit.edu	37	chr4	62598970	62598970	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttacaccctacggatcgAaggaacatgggatactgcat	12	8	9	12	2	0	0	0	0	0	0	1	4	0	3	2	3	5	1	2	3	5	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:62598970A>T	ENST00000512091.1	+	7	1640	c.893A>T	c.(892-894)gAa>gTa	p.E298V	LPHN3_ENST00000507625.1_Missense_Mutation_p.E366V|LPHN3_ENST00000506700.1_Missense_Mutation_p.E298V|LPHN3_ENST00000545650.1_Missense_Mutation_p.E298V|LPHN3_ENST00000514157.1_Missense_Mutation_p.E298V|LPHN3_ENST00000506746.1_Missense_Mutation_p.E366V|LPHN3_ENST00000509896.1_Missense_Mutation_p.E366V|LPHN3_ENST00000514591.1_Missense_Mutation_p.E298V|LPHN3_ENST00000511324.1_Missense_Mutation_p.E366V|LPHN3_ENST00000506720.1_Missense_Mutation_p.E366V|LPHN3_ENST00000507164.1_Missense_Mutation_p.E366V|LPHN3_ENST00000514996.1_Missense_Mutation_p.E298V|LPHN3_ENST00000508946.1_Missense_Mutation_p.E298V|LPHN3_ENST00000504896.1_Missense_Mutation_p.E298V|LPHN3_ENST00000508693.1_Missense_Mutation_p.E366V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	298	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTACGGATCGAAGGAACATGG	0.393													8	37					0	0	0	0	T	62598970	A	T	62598970	3	4	240	1	0	0	0	0	1	0	0	0	8981	246	9	5	911	5	LPHN3	4	62598970	Missense_Mutation	SNP	A	TCGA-CV-5976-01A-11D-1683-08	15668539	62598970	128555306	25	43515											
UGT2B11	10720	broad.mit.edu	37	chr4	70071211	70071211	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgttacctagaaggtcattCtggggtatccacttgtacag	9	13	11	8	0	2	1	1	0	1	1	3	1	3	1	2	3	2	3	2	3	5	6			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:70071211C>G	ENST00000446444.1	-	4	1085	c.1077G>C	c.(1075-1077)caG>caC	p.Q359H	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	359					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GAAGGTCATTCTGGGGTATCC	0.373													7	127					0	0	0	0	G	70071211	C	G	70071211	3	3	240	1	0	0	0	0	1	0	0	0	17053	912	32	2	524	2	UGT2B11	4	70071211	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	7472241	70071211	121083065	26	43516											
CDS1	1040	broad.mit.edu	37	chr4	85566477	85566477	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtacatcacaagttttataAggtacttttacacttgagac	13	15	6	7	0	1	1	1	1	0	1	1	2	1	1	0	1	3	3	0	1	6	8			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:85566477A>T	ENST00000295887.5	+	12	1678	c.1256_splice	c.e12+1	p.R419_splice		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	419					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		AAGTTTTATAAGGTACTTTTA	0.328													29	30					0	0	0	0	T	85566477	A	T	85566477	5	4	240	1	0	0	0	0	0	0	1	0	3206	86	3	5	1301	5	CDS1	4	85566477	Splice_Site	SNP	A	TCGA-CV-5976-01A-11D-1683-08	15495266	85566477	105587799	27	43517											
ADAM29	11086	broad.mit.edu	37	chr4	175897355	175897355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgctggaggatctatatGttattgttaatatagtggat	11	17	11	2	0	1	0	0	0	1	0	1	3	1	3	0	3	1	4	0	3	6	8			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:175897355G>T	ENST00000359240.3	+	5	1349	c.679G>T	c.(679-681)Gtt>Ttt	p.V227F	ADAM29_ENST00000404450.4_Missense_Mutation_p.V227F|ADAM29_ENST00000514159.1_Missense_Mutation_p.V227F|ADAM29_ENST00000445694.1_Missense_Mutation_p.V227F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	227	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGATCTATATGTTATTGTTAA	0.338													23	42					1.10513e-12	1.26006e-12	1	0	T	175897355	G	T	175897355	3	4	240	1	0	0	0	0	1	0	0	0	247	1377	48	4	681	4	ADAM29	4	175897355	Missense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	90330878	175897355	15256921	28	43518											
FAT1	2195	broad.mit.edu	37	chr4	187518254	187518254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcagttgcagtgataggagCcgtgcgtgttctcacagagg	8	10	15	8	2	1	2	1	1	1	1	2	3	1	3	1	2	4	4	1	2	1	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:187518254C>T	ENST00000441802.2	-	25	12649	c.12440G>A	c.(12439-12441)gGc>gAc	p.G4147D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4147	EGF-like 5; calcium-binding (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGATAGGAGCCGTGCGTGTT	0.587										HNSCC(5;0.00058)			9	16					0	0	0	0	T	187518254	C	T	187518254	3	4	240	1	0	0	0	0	1	0	0	0	5734	739	26	4	1338	4	FAT1	4	187518254	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	11620899	187518254	3636022	29	43519											
ANKH	56172	broad.mit.edu	37	chr5	14716914	14716914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaagattttctcagacaCgttgggtgtccaaaacatca	13	12	7	9	1	3	2	3	0	1	2	5	2	4	2	1	1	1	1	1	1	4	4	rs148228793		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr5:14716914C>T	ENST00000284268.6	-	9	1372	c.1042G>A	c.(1042-1044)Gtg>Atg	p.V348M	ANKH_ENST00000535119.1_Missense_Mutation_p.V150M	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	348					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.V348M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTCAGACACGTTGGGTGTC	0.463													8	23					0	0	0	0	T	14716914	C	T	14716914	3	4	240	1	0	0	0	0	1	0	0	0	627	536	19	1	452	1	ANKH	5	14716914	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08		14716914	166198346	30	43520											
HMGCR	3156	broad.mit.edu	37	chr5	74655134	74655134	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctacattgcctgtggacAggtgagctctccagcctcca	8	10	9	14	0	2	1	0	1	2	0	4	2	3	2	4	2	4	1	4	2	1	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr5:74655134A>G	ENST00000287936.4	+	17	2453	c.2298_splice	c.e17+1	p.Q766_splice	HMGCR_ENST00000343975.5_Splice_Site_p.Q713_splice|HMGCR_ENST00000511206.1_Splice_Site_p.Q766_splice	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	766	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GCCTGTGGACAGGTGAGCTCT	0.453													12	33					0	0	0	0	G	74655134	A	G	74655134	5	3	240	1	0	0	0	0	0	0	1	0	7281	202	7	5	2359	5	HMGCR	5	74655134	Splice_Site	SNP	A	TCGA-CV-5976-01A-11D-1683-08	59938220	74655134	106260126	31	43521											
CDYL	9425	broad.mit.edu	37	chr6	4935984	4935984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatccacaaagtcctcagaGaataactcactaaatccaga	17	9	4	11	0	2	2	2	0	0	2	5	3	5	2	3	0	1	0	3	0	6	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:4935984G>A	ENST00000328908.5	+	5	1220	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	CDYL_ENST00000343762.5_Silent_p.E177E|CDYL_ENST00000449732.2_Silent_p.E177E|CDYL_ENST00000397588.3_Silent_p.E309E|CDYL_ENST00000472453.1_3'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	363					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGTCCTCAGAGAATAACTCAC	0.532													23	70					0	0	0	0	A	4935984	G	A	4935984	2	1	240	1	0	0	0	0	0	0	0	1	3214	933	33	2		2	CDYL	6	4935984	Silent	SNP	G	TCGA-CV-5976-01A-11D-1683-08		4935984	166179083	32	43522											
GCM2	9247	broad.mit.edu	37	chr6	10874807	10874807	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatagctgctgtatgaattGacattacattgtagtgtgtt	10	17	9	5	0	1	2	1	2	0	0	1	2	1	2	0	0	3	5	0	0	5	7			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:10874807G>A	ENST00000379491.4	-	5	1089	c.942C>T	c.(940-942)gtC>gtT	p.V314V	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	314					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGTATGAATTGACATTACATT	0.428													52	131					0	0	0	0	A	10874807	G	A	10874807	2	1	240	1	0	0	0	0	0	0	0	1	6347	1277	45	2		2	GCM2	6	10874807	Silent	SNP	G	TCGA-CV-5976-01A-11D-1683-08	5938823	10874807	160240260	33	43523											
HLA-A	3105	broad.mit.edu	37	chr6	29910349	29910349	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggccgtcatggcgcccCgaaccctcctcctgctactc	5	8	10	18	3	1	0	1	0	0	0	4	2	3	1	6	3	3	1	6	3	2	1			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:29910349C>T	ENST00000396634.1	+	3	360	c.19C>T	c.(19-21)Cga>Tga	p.R7*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.R7*			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	7					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CATGGCGCCCCGAACCCTCCT	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			11	33					0	0	0	0	T	29910349	C	T	29910349	4	4	240	1	0	0	0	0	0	1	0	0	7245	644	23	1	21	1	HLA-A	6	29910349	Nonsense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	19035542	29910349	141204718	34	43524											
HSPA1L	3305	broad.mit.edu	37	chr6	31778484	31778484	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atctgtgtctgcttggtgggGatggtggagttgcgctttat	4	16	16	5	1	2	0	0	0	2	0	2	2	2	2	0	5	2	3	0	5	1	4			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:31778484G>A	ENST00000375654.4	-	2	1455	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	HSPA1L_ENST00000417199.3_Silent_p.I422I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	422					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GCTTGGTGGGGATGGTGGAGT	0.597													23	68					0	0	0	0	A	31778484	G	A	31778484	2	1	240	1	0	0	0	0	0	0	0	1	7462	1164	41	2		2	HSPA1L	6	31778484	Silent	SNP	G	TCGA-CV-5976-01A-11D-1683-08	1868135	31778484	139336583	35	43525											
RSPH9	221421	broad.mit.edu	37	chr6	43638533	43638533	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcttatctcagggtcctgGagcatccagatggagagggg	8	10	15	8	0	2	2	1	0	2	2	5	4	4	3	2	5	1	1	2	5	1	1			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:43638533G>T	ENST00000372165.4	+	6	783	c.730G>T	c.(730-732)Gag>Tag	p.E244*	RSPH9_ENST00000372163.4_Missense_Mutation_p.W226C	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	0					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		p.W226C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CAGGGTCCTGGAGCATCCAGA	0.642									Kartagener syndrome				6	51					7.48243e-07	8.22393e-07	1	0	T	43638533	G	T	43638533	4	4	240	1	0	0	0	0	0	1	0	0	13793	1183	41	2	696	2	RSPH9	6	43638533	Nonsense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	11860049	43638533	127476534	36	43526											
COL21A1	81578	broad.mit.edu	37	chr6	56047356	56047357	+	Frame_Shift_Del	DEL	AC	AC	-																															tacttccccatcttcagctaAcacagaattctgaagaagca																										TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:56047356_56047357delAC	ENST00000244728.5	-	2	457_458	c.60_61delGT	c.(58-63)gttafs	p.VL20fs	COL21A1_ENST00000370819.1_Frame_Shift_Del_p.VL20fs|COL21A1_ENST00000535941.1_Frame_Shift_Del_p.VL20fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	20					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTTCAGCTAACACAGAATTCT	0.347													6	9	---	---	---	---					-	56047357	AC	-	56047356	7	5	240	1	0	1	0	1	0	0	0	0	3710	40	2	0	2928	0	COL21A1	6	56047356	Frame_Shift_Del	DEL	AC	TCGA-CV-5976-01A-11D-1683-08	12408823	56047356	115067711	37	43527											
WASF1	8936	broad.mit.edu	37	chr6	110423257	110423257	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggtggaggtgggggaggTactggagggggaggagttga	8	6	26	1	0	0	1	0	1	0	0	0	7	0	7	0	11	1	2	0	11	1	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:110423257T>G	ENST00000392589.1	-	10	1892	c.1056A>C	c.(1054-1056)gtA>gtC	p.V352V	WASF1_ENST00000392587.2_Silent_p.V352V|WASF1_ENST00000392588.1_Silent_p.V352V|WASF1_ENST00000359451.2_Silent_p.V352V|WASF1_ENST00000392586.1_Silent_p.V352V	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	352	Poly-Pro.				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GTGGGGGAGGTACTGGAGGGG	0.572													8	33					0	0	0	0	G	110423257	T	G	110423257	2	3	240	1	0	0	0	0	0	0	0	1	17348	1625	57	5		5	WASF1	6	110423257	Silent	SNP	T	TCGA-CV-5976-01A-11D-1683-08	54375901	110423257	60691810	38	43528											
ETV1	2115	broad.mit.edu	37	chr7	13935510	13935510	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttaatacacgtagccttcgTtgtaggggtgggggttgcag	7	12	16	6	2	0	0	0	0	0	0	1	0	0	0	1	4	3	6	1	4	4	7			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:13935510T>C	ENST00000343495.5	-	13	2099	c.1361A>G	c.(1360-1362)aAc>aGc	p.N454S	ETV1_ENST00000405218.2_Missense_Mutation_p.N472S|ETV1_ENST00000403527.1_Missense_Mutation_p.N432S|ETV1_ENST00000405358.4_Missense_Mutation_p.N486S|ETV1_ENST00000430479.1_Missense_Mutation_p.N472S|ETV1_ENST00000405192.2_Missense_Mutation_p.N449S|ETV1_ENST00000403685.1_Missense_Mutation_p.N454S|ETV1_ENST00000420159.2_Missense_Mutation_p.N414S|ETV1_ENST00000242066.5_Missense_Mutation_p.N454S|ETV1_ENST00000399357.3_Missense_Mutation_p.N369S			P50549	ETV1_HUMAN	ets variant 1	472					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTAGCCTTCGTTGTAGGGGTG	0.483			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								6	20					0	0	0	0	C	13935510	T	C	13935510	3	2	240	1	0	0	0	0	1	0	0	0	5315	1725	60	5	22	5	ETV1	7	13935510	Missense_Mutation	SNP	T	TCGA-CV-5976-01A-11D-1683-08		13935510	145203153	39	43529											
ELMO1	9844	broad.mit.edu	37	chr7	37264524	37264524	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccgatggtgatctcctGcgccactttctggtagaggt	5	12	13	11	2	2	2	0	1	2	1	3	3	2	2	3	4	1	1	3	4	1	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:37264524G>A	ENST00000310758.4	-	9	1308	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	ELMO1_ENST00000442504.1_Nonsense_Mutation_p.Q221*|ELMO1_ENST00000448602.1_Nonsense_Mutation_p.Q221*	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	221					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.Q221*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTGATCTCCTGCGCCACTTTC	0.532													13	29					0	0	0	0	A	37264524	G	A	37264524	4	1	240	1	0	0	0	0	0	1	0	0	5103	1328	46	4	1578	4	ELMO1	7	37264524	Nonsense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	23329014	37264524	121874139	40	43530											
EPDR1	54749	broad.mit.edu	37	chr7	37988572	37988572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctcaaaactccacctttGaagaccagtactccatcggg	11	10	6	14	1	1	2	1	1	0	1	5	2	4	2	5	1	2	1	5	1	4	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:37988572G>A	ENST00000199448.4	+	2	779	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000559325.1_Missense_Mutation_p.E254K|EPDR1_ENST00000425345.1_Missense_Mutation_p.E73K|EPDR1_ENST00000476620.1_Missense_Mutation_p.E32K	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	134					cell-matrix adhesion	extracellular region	calcium ion binding	p.E254K(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CTCCACCTTTGAAGACCAGTA	0.512													15	26					0	0	0	0	A	37988572	G	A	37988572	3	1	240	1	0	0	0	0	1	0	0	0	5201	1291	45	2	766	2	EPDR1	7	37988572	Missense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	724048	37988572	121150091	41	43531											
PIK3CG	5294	broad.mit.edu	37	chr7	106508605	106508605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctctacgccatgcaccCgtgggtgacgtccaagcccc	8	6	10	17	3	1	1	0	1	1	0	2	1	2	1	5	1	4	2	5	1	3	1			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:106508605C>T	ENST00000359195.3	+	2	909	c.599C>T	c.(598-600)cCg>cTg	p.P200L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.P200L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P200L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	200					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCCATGCACCCGTGGGTGACG	0.622													15	50					0	0	0	0	T	106508605	C	T	106508605	3	4	240	1	0	0	0	0	1	0	0	0	11988	652	23	1	601	1	PIK3CG	7	106508605	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	68520033	106508605	52630058	42	43532											
GCC1	79571	broad.mit.edu	37	chr7	127223255	127223255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccttctgcttggctttctCgtaggtgcctagcagctcag	4	14	11	12	1	3	0	1	0	2	0	5	0	4	0	2	2	4	5	2	2	2	5			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:127223255C>T	ENST00000321407.2	-	2	1565	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	381						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTGGCTTTCTCGTAGGTGCCT	0.547													32	92					0	0	0	0	T	127223255	C	T	127223255	3	4	240	1	0	0	0	0	1	0	0	0	6334	893	31	1	1190	1	GCC1	7	127223255	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	20714650	127223255	31915408	43	43533											
RB1CC1	9821	broad.mit.edu	37	chr8	53573780	53573780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacagctctattacgaggcGgagcaaagcttgtaacttct	12	11	9	9	2	2	0	0	0	2	0	2	2	2	1	0	2	6	4	0	2	5	6	rs151174558		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr8:53573780G>A	ENST00000025008.5	-	10	1943	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	RB1CC1_ENST00000435644.2_Missense_Mutation_p.R474C|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R474C|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	474					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	p.R474C(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATTACGAGGCGGAGCAAAGCT	0.378													16	66					0	0	0	0	A	53573780	G	A	53573780	3	1	240	1	0	0	0	0	1	0	0	0	13181	1116	39	1	3424	1	RB1CC1	8	53573780	Missense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08		53573780	92790242	44	43534											
EPPK1	83481	broad.mit.edu	37	chr8	144944533	144944533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgcctgggcctccagCagggccagggccaccctggg	4	4	17	16	1	0	0	0	0	0	0	1	0	1	0	7	5	1	1	7	5	0	0			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr8:144944533C>T	ENST00000525985.1	-	2	2960	c.2889G>A	c.(2887-2889)ctG>ctA	p.L963L				P58107	EPIPL_HUMAN	epiplakin 1	963						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCTCCAGCAGGGCCAGGG	0.716													3	12					0	0	0	0	T	144944533	C	T	144944533	2	4	240	1	0	0	0	0	0	0	0	1	5228	697	25	4		4	EPPK1	8	144944533	Silent	SNP	C	TCGA-CV-5976-01A-11D-1683-08	91370753	144944533	1419489	45	43535											
PLEC	5339	broad.mit.edu	37	chr8	144993862	144993862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctcagcaggccccggCgcatggcctcgtagatggac	6	7	14	14	3	1	1	1	0	1	1	3	2	1	2	3	5	1	4	3	5	1	1			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr8:144993862C>T	ENST00000322810.4	-	32	10707	c.10538G>A	c.(10537-10539)cGc>cAc	p.R3513H	PLEC_ENST00000345136.3_Missense_Mutation_p.R3376H|PLEC_ENST00000398774.2_Missense_Mutation_p.R3344H|PLEC_ENST00000436759.2_Missense_Mutation_p.R3403H|PLEC_ENST00000354958.2_Missense_Mutation_p.R3354H|PLEC_ENST00000357649.2_Missense_Mutation_p.R3380H|PLEC_ENST00000356346.3_Missense_Mutation_p.R3362H|PLEC_ENST00000354589.3_Missense_Mutation_p.R3376H|PLEC_ENST00000527096.1_Missense_Mutation_p.R3399H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3513	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGGCCCCGGCGCATGGCCTC	0.687													12	27					0	0	0	0	T	144993862	C	T	144993862	3	4	240	1	0	0	0	0	1	0	0	0	12124	768	27	1	3520	1	PLEC	8	144993862	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	49329	144993862	1370160	46	43536											
CDKN2A	1029	broad.mit.edu	37	chr9	21971108	21971108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagccctcccgggcagcgtCgtgcacgggtcgggtgagag	6	5	18	12	5	0	1	0	1	0	1	3	3	1	1	2	3	3	2	2	3	1	0	rs11552822		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr9:21971108C>T	ENST00000579755.1	-	2	585	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D84N|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R139Q|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R98Q|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84N			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			H -> P (in CMM2).|H -> Q (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D84Y(11)|p.D84N(7)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.R139Q(2)|p.D84fs*1(1)|p.D84_F90del(1)|p.R139L(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGCAGCGTCGTGCACGGGT	0.741	D84Y(DU145_PROSTATE)|D84Y(LK2_LUNG)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	5					0	0	0	0	T	21971108	C	T	21971108	3	4	240	1	0	0	0	0	1	0	0	0	3190	884	31	1	228	1	CDKN2A	9	21971108	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08		21971108	119242323	47	43537											
ZNF510	22869	broad.mit.edu	37	chr9	99522150	99522150	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattatattcctccacagttGacttctcaaaggatttccca	11	15	4	11	0	1	1	1	1	1	0	5	2	4	2	3	1	0	1	3	1	4	7			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr9:99522150G>C	ENST00000375231.1	-	6	1612	c.962C>G	c.(961-963)tCa>tGa	p.S321*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.S321*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTCCACAGTTGACTTCTCAAA	0.358													29	67					0	0	0	0	C	99522150	G	C	99522150	4	2	240	1	0	0	0	0	0	1	0	0	18049	1294	45	2	1093	2	ZNF510	9	99522150	Nonsense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	77551042	99522150	41691281	48	43538											
PRDM11	56981	broad.mit.edu	37	chr11	45246383	45246383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actggagctcccagagttctCggaccctgcaggtaagttgg	8	9	13	11	1	1	1	0	0	1	1	3	3	2	3	2	4	2	5	2	4	1	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:45246383C>T	ENST00000263765.4	+	8	1709	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000530656.1_Missense_Mutation_p.S487L|PRDM11_ENST00000424263.2_Missense_Mutation_p.S453L			Q9NQV5	PRD11_HUMAN	PR domain containing 11	487								p.S487L(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAGAGTTCTCGGACCCTGCA	0.542													30	68					0	0	0	0	T	45246383	C	T	45246383	3	4	240	1	0	0	0	0	1	0	0	0	12532	893	31	1	1486	1	PRDM11	11	45246383	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08		45246383	89760133	49	43539											
OR4A15	81328	broad.mit.edu	37	chr11	55135388	55135388	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgacaaataatctcaaatTtatcactgacccttttgttt	12	17	3	9	0	3	2	2	2	2	0	4	2	3	2	1	0	0	1	1	0	4	6			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:55135388T>A	ENST00000314706.3	+	1	29	c.29T>A	c.(28-30)tTt>tAt	p.F10Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AATCTCAAATTTATCACTGAC	0.408													7	43					0	0	0	0	A	55135388	T	A	55135388	3	1	240	1	0	0	0	0	1	0	0	0	11111	1841	64	5	31	5	OR4A15	11	55135388	Missense_Mutation	SNP	T	TCGA-CV-5976-01A-11D-1683-08	9889005	55135388	79871128	50	43540											
GLYAT	10249	broad.mit.edu	37	chr11	58478154	58478154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttcagctgccatatagaGaatgcgttgtgtttgtttga	8	17	11	5	1	1	2	1	1	0	1	1	3	1	2	1	0	3	5	1	0	3	6			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:58478154G>A	ENST00000344743.3	-	5	538	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F	GLYAT_ENST00000278400.3_Missense_Mutation_p.L133F|GLYAT_ENST00000529732.1_Missense_Mutation_p.L133F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	133					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GCCATATAGAGAATGCGTTGT	0.428													32	87					0	0	0	0	A	58478154	G	A	58478154	3	1	240	1	0	0	0	0	1	0	0	0	6530	942	33	2	505	2	GLYAT	11	58478154	Missense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	3342766	58478154	76528362	51	43541											
ATG2A	23130	broad.mit.edu	37	chr11	64665596	64665596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgggaccacggggttgatgCcggccaccagactagtgaag	9	6	15	11	2	0	3	0	2	0	1	0	4	0	4	4	4	1	1	4	4	2	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:64665596C>T	ENST00000421419.2	-	34	4940	c.4826G>A	c.(4825-4827)gGc>gAc	p.G1609D	ATG2A_ENST00000377264.3_Missense_Mutation_p.G1607D			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1607							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGGTTGATGCCGGCCACCAG	0.627											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	143					0	0	0	0	T	64665596	C	T	64665596	3	4	240	1	0	0	0	0	1	0	0	0	1097	739	26	4	1028	4	ATG2A	11	64665596	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	6187442	64665596	70340920	52	43542											
TIGD3	220359	broad.mit.edu	37	chr11	65123651	65123651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagcatcggctggctGgtccgctggaaacgccgaaa	8	6	14	13	4	0	0	0	0	0	0	2	2	1	1	3	4	3	4	3	4	2	0			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:65123651G>A	ENST00000309880.5	+	2	579	c.372G>A	c.(370-372)ctG>ctA	p.L124L		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	124	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCGGCTGGCTGGTCCGCTGGA	0.662													11	42					0	0	0	0	A	65123651	G	A	65123651	2	1	240	1	0	0	0	0	0	0	0	1	15991	1335	47	4		4	TIGD3	11	65123651	Silent	SNP	G	TCGA-CV-5976-01A-11D-1683-08	458055	65123651	69882865	53	43543											
PCNXL3	399909	broad.mit.edu	37	chr11	65393198	65393198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccatcagcgccagcaccGtctttattgccctgaaggtt	7	11	9	14	3	2	1	1	1	1	0	3	1	2	1	4	1	3	2	4	1	2	4			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:65393198G>A	ENST00000355703.3	+	19	3750	c.3211G>A	c.(3211-3213)Gtc>Atc	p.V1071I		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1071						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGCCAGCACCGTCTTTATTGC	0.627											OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	14					0	0	0	0	A	65393198	G	A	65393198	3	1	240	1	0	0	0	0	1	0	0	0	11664	1145	40	1	3285	1	PCNXL3	11	65393198	Missense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	269547	65393198	69613318	54	43544											
SART1	9092	broad.mit.edu	37	chr11	65735028	65735028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgccgtcggacgacacccGagtggagaacatggacatca	11	5	12	13	4	1	1	1	0	0	1	2	6	1	3	3	3	2	0	3	3	1	0			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:65735028G>A	ENST00000312397.5	+	11	1492	c.1400G>A	c.(1399-1401)cGa>cAa	p.R467Q		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	467					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACGACACCCGAGTGGAGAAC	0.682													10	20					0	0	0	0	A	65735028	G	A	65735028	3	1	240	1	0	0	0	0	1	0	0	0	13932	1058	37	1	1442	1	SART1	11	65735028	Missense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	341830	65735028	69271488	55	43545											
RAB1B	81876	broad.mit.edu	37	chr11	66043605	66043605	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcatgaccatggctgctGaaatcaaaaagcggatgggg	12	8	13	8	2	2	2	2	2	0	0	2	3	2	3	1	4	2	3	1	4	3	1			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:66043605G>T	ENST00000311481.6	+	6	649	c.502G>T	c.(502-504)Gaa>Taa	p.E168*	RAB1B_ENST00000527397.1_Nonsense_Mutation_p.E136*|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	168					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CATGGCTGCTGAAATCAAAAA	0.597													5	22					0.184627	0.186153	1	0	T	66043605	G	T	66043605	4	4	240	1	0	0	0	0	0	1	0	0	12988	1291	45	2	524	2	RAB1B	11	66043605	Nonsense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	308577	66043605	68962911	56	43546											
MAP6	4135	broad.mit.edu	37	chr11	75298616	75298616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcatccttcggatgctctgGgaccatgggatcttgatcct	6	14	10	11	1	3	1	1	1	2	0	6	4	5	4	3	3	1	1	3	3	0	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:75298616G>A	ENST00000304771.3	-	4	2680	c.1930C>T	c.(1930-1932)Cca>Tca	p.P644S	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.P315S	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	644	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GGATGCTCTGGGACCATGGGA	0.517													44	138					0	0	0	0	A	75298616	G	A	75298616	3	1	240	1	0	0	0	0	1	0	0	0	9333	1232	43	4	515	4	MAP6	11	75298616	Missense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	9255011	75298616	59707900	57	43547											
UBE4A	9354	broad.mit.edu	37	chr11	118243810	118243810	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgttagattttgaagAtgtaactgagtttctggaag	10	17	10	4	0	3	4	0	2	3	2	3	5	3	5	0	1	1	3	0	1	4	6	rs111254610		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:118243810A>C	ENST00000252108.3	+	7	862	c.731A>C	c.(730-732)gAt>gCt	p.D244A	UBE4A_ENST00000431736.2_Missense_Mutation_p.D251A	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	244					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	p.D251A(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GATTTTGAAGATGTAACTGAG	0.333													11	24					0	0	0	0	C	118243810	A	C	118243810	3	2	240	1	0	0	0	0	1	0	0	0	16978	333	12	5	774	5	UBE4A	11	118243810	Missense_Mutation	SNP	A	TCGA-CV-5976-01A-11D-1683-08	42945194	118243810	16762706	58	43548											
NELL2	4753	broad.mit.edu	37	chr12	45170851	45170851	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgatgttttggctaaaatatCctgtagctccatgattttct	9	18	7	7	0	1	2	0	2	1	0	3	2	3	2	2	1	1	4	2	1	4	7			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:45170851C>G	ENST00000429094.2	-	7	1240	c.736G>C	c.(736-738)Gat>Cat	p.D246H	NELL2_ENST00000437801.2_Missense_Mutation_p.D296H|NELL2_ENST00000551601.1_Missense_Mutation_p.D245H|NELL2_ENST00000549027.1_Missense_Mutation_p.D245H|NELL2_ENST00000333837.4_Missense_Mutation_p.D269H|NELL2_ENST00000395487.2_Missense_Mutation_p.D245H|NELL2_ENST00000452445.2_Missense_Mutation_p.D246H	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	246	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.D246H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCTAAAATATCCTGTAGCTCC	0.378													12	49					0	0	0	0	G	45170851	C	G	45170851	3	3	240	1	0	0	0	0	1	0	0	0	10404	855	30	2	1770	2	NELL2	12	45170851	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08		45170851	88681044	59	43549											
ARID2	196528	broad.mit.edu	37	chr12	46244616	46244616	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccaaaacctctcccttctCagcaagtttcatctacagtg	11	11	4	15	0	4	0	2	0	3	0	6	0	4	0	3	0	3	2	3	0	4	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:46244616C>T	ENST00000334344.6	+	15	2882	c.2710C>T	c.(2710-2712)Cag>Tag	p.Q904*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q755*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q514*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	904	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q904*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTCCCTTCTCAGCAAGTTTC	0.483			"N, S, F"		hepatocellular carcinoma								16	63					0	0	0	0	T	46244616	C	T	46244616	4	4	240	1	0	0	0	0	0	1	0	0	917	827	29	2	2768	2	ARID2	12	46244616	Nonsense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	1073765	46244616	87607279	60	43550											
PAN2	9924	broad.mit.edu	37	chr12	56720656	56720656	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttgctggctgacacatcaAatgtcattagcagaggcccc	10	9	10	12	0	2	2	2	1	0	1	2	2	2	2	2	2	2	4	2	2	2	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:56720656A>T	ENST00000425394.2	-	7	1383	c.1007T>A	c.(1006-1008)tTt>tAt	p.F336Y	PAN2_ENST00000440411.3_Missense_Mutation_p.F336Y|PAN2_ENST00000548043.1_Missense_Mutation_p.F336Y|PAN2_ENST00000257931.5_Missense_Mutation_p.F336Y	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	336					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGACACATCAAATGTCATTAG	0.557													32	71					0	0	0	0	T	56720656	A	T	56720656	3	4	240	1	0	0	0	0	1	0	0	0	11485	14	1	5	2681	5	PAN2	12	56720656	Missense_Mutation	SNP	A	TCGA-CV-5976-01A-11D-1683-08	10476040	56720656	77131239	61	43551											
TMEM132D	121256	broad.mit.edu	37	chr12	129559527	129559527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgtggccatcaaggaGaagtctttcccatcgtaaat	14	10	9	8	1	2	2	1	0	1	2	4	3	3	2	2	2	0	1	2	2	5	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:129559527G>T	ENST00000422113.2	-	9	2519	c.2193C>A	c.(2191-2193)ttC>ttA	p.F731L	TMEM132D_ENST00000389441.4_Missense_Mutation_p.F269L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	731						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCATCAAGGAGAAGTCTTTCC	0.473													13	35					1.61879e-10	1.82863e-10	1	0	T	129559527	G	T	129559527	3	4	240	1	0	0	0	0	1	0	0	0	16141	933	33	2	1110	2	TMEM132D	12	129559527	Missense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	72838871	129559527	4292368	62	43552											
TMEM132D	121256	broad.mit.edu	37	chr12	130184386	130184386	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcttcagtggaatttcTggagatggaaacaggaaaag	14	9	13	5	1	3	1	1	0	2	1	3	6	3	4	0	4	1	0	0	4	4	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:130184386T>C	ENST00000422113.2	-	2	1263	c.937A>G	c.(937-939)Aga>Gga	p.R313G		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	313						integral to membrane		p.R313G(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTGGAATTTCTGGAGATGGAA	0.502													10	22					0	0	0	0	C	130184386	T	C	130184386	3	2	240	1	0	0	0	0	1	0	0	0	16141	1588	55	5	2394	5	TMEM132D	12	130184386	Missense_Mutation	SNP	T	TCGA-CV-5976-01A-11D-1683-08	624859	130184386	3667509	63	43553											
B3GALTL	145173	broad.mit.edu	37	chr13	31891811	31891811	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctacagctacatcacGggaggaggagggtaactatg	11	7	16	7	1	1	0	1	0	0	0	1	3	1	3	0	6	4	3	0	6	4	4			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr13:31891811G>A	ENST00000343307.4	+	13	1322	c.1173G>A	c.(1171-1173)acG>acA	p.T391T		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	391					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GCTACATCACGGGAGGAGGAG	0.527													15	50					0	0	0	0	A	31891811	G	A	31891811	2	1	240	1	0	0	0	0	0	0	0	1	1256	1103	39	1		1	B3GALTL	13	31891811	Silent	SNP	G	TCGA-CV-5976-01A-11D-1683-08		31891811	83278067	64	43554											
RPGRIP1	57096	broad.mit.edu	37	chr14	21771560	21771560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaacccattggtctatgcAtgcctaacagtgcccacatc	11	10	6	14	0	1	0	0	0	1	0	2	0	1	0	3	1	5	1	3	1	4	4			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:21771560A>G	ENST00000206660.6	+	5	658	c.658A>G	c.(658-660)Atg>Gtg	p.M220V	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.M220V|RPGRIP1_ENST00000557771.1_Intron|RPGRIP1_ENST00000556336.1_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	220					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGGTCTATGCATGCCTAACAG	0.403													9	24					0	0	0	0	G	21771560	A	G	21771560	3	3	240	1	0	0	0	0	1	0	0	0	13634	217	8	5	676	5	RPGRIP1	14	21771560	Missense_Mutation	SNP	A	TCGA-CV-5976-01A-11D-1683-08		21771560	85577980	65	43555											
HECTD1	25831	broad.mit.edu	37	chr14	31598317	31598317	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattggttcatggacatcAgctcctgaaactatactgtg	12	12	8	9	0	2	1	2	1	0	0	3	2	3	2	1	2	3	2	1	2	4	4			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:31598317A>C	ENST00000399332.1	-	25	4748	c.4260T>G	c.(4258-4260)gcT>gcG	p.A1420A	HECTD1_ENST00000553700.1_Silent_p.A1420A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1420	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CATGGACATCAGCTCCTGAAA	0.478													3	126					0	0	0	0	C	31598317	A	C	31598317	2	2	240	1	0	0	0	0	0	0	0	1	7089	175	7	5		5	HECTD1	14	31598317	Silent	SNP	A	TCGA-CV-5976-01A-11D-1683-08	9826757	31598317	75751223	66	43556											
FSCB	84075	broad.mit.edu	37	chr14	44974982	44974982	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggcctcttcaagggcGccctcagctggtaaaggctg	6	8	15	12	1	3	0	2	0	1	0	3	0	3	0	2	5	1	4	2	5	3	2	rs140508672	by1000genomes	TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:44974982G>A	ENST00000340446.4	-	1	1500	c.1209C>T	c.(1207-1209)ggC>ggT	p.G403G		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	403	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTTCAAGGGCGCCCTCAGCTG	0.517													20	69					0	0	0	0	A	44974982	G	A	44974982	2	1	240	1	0	0	0	0	0	0	0	1	6114	1074	38	1		1	FSCB	14	44974982	Silent	SNP	G	TCGA-CV-5976-01A-11D-1683-08	13376665	44974982	62374558	67	43557											
ATP5S	27109	broad.mit.edu	37	chr14	50792426	50792426	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgccttctctggaactaaaAttacaattgaagtaaaataa	17	12	5	7	0	1	1	0	1	1	0	2	2	1	2	1	1	3	1	1	1	9	6			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:50792426A>G	ENST00000311459.7	+	5	1013	c.633A>G	c.(631-633)aaA>aaG	p.K211K	ATP5S_ENST00000554438.1_3'UTR|ATP5S_ENST00000245448.6_3'UTR|ATP5S_ENST00000358473.1_Intron	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	211					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		TGGAACTAAAATTACAATTGA	0.308													28	55					0	0	0	0	G	50792426	A	G	50792426	2	3	240	1	0	0	0	0	0	0	0	1	1167	98	4	5		5	ATP5S	14	50792426	Silent	SNP	A	TCGA-CV-5976-01A-11D-1683-08	5817444	50792426	56557114	68	43558											
SMOC1	64093	broad.mit.edu	37	chr14	70490018	70490018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacgacattaacaagcGggagatgaagcccttcaagc	15	5	10	11	2	1	2	1	1	0	1	1	4	1	2	1	1	6	1	1	1	5	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:70490018G>A	ENST00000381280.4	+	11	1398	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q	SMOC1_ENST00000361956.3_Missense_Mutation_p.R382Q	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	382	EF-hand 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.R382Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ATTAACAAGCGGGAGATGAAG	0.542													20	61					0	0	0	0	A	70490018	G	A	70490018	3	1	240	1	0	0	0	0	1	0	0	0	14889	1116	39	1	1187	1	SMOC1	14	70490018	Missense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	19697592	70490018	36859522	69	43559											
FAM161B	145483	broad.mit.edu	37	chr14	74413239	74413239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcaagtttgctggccctggGcaaaaccagcccatccccgg	8	7	11	15	1	1	0	1	0	0	0	2	0	2	0	5	3	3	3	5	3	3	1			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:74413239G>A	ENST00000286544.3	-	2	511	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	FAM161B_ENST00000534936.1_Missense_Mutation_p.P42S	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CTGGCCCTGGGCAAAACCAGC	0.507													4	139					0	0	0	0	A	74413239	G	A	74413239	3	1	240	1	0	0	0	0	1	0	0	0	5514	1203	42	4	1851	4	FAM161B	14	74413239	Missense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	3923221	74413239	32936301	70	43560											
MGA	23269	broad.mit.edu	37	chr15	42003295	42003297	+	In_Frame_Del	DEL	CAT	CAT	-																															gttaccaagaattcttcaggCatcatctcagaaaatcaggc																										TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr15:42003295_42003297delCAT	ENST00000219905.7	+	8	3013_3015	c.2832_2834delCAT	c.(2830-2835)ggc>gg	p.GI944del	MGA_ENST00000545763.1_In_Frame_Del_p.GI944del|MGA_ENST00000389936.4_In_Frame_Del_p.GI944del|MGA_ENST00000570161.1_In_Frame_Del_p.GI944del|MGA_ENST00000566586.1_In_Frame_Del_p.GI944del	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	944						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATTCTTCAGGCATCATCTCAGAA	0.384													48	93	---	---	---	---					-	42003297	CAT	-	42003295	7	5	240	1	0	1	0	1	0	0	0	0	9609	697	25	0	2858	0	MGA	15	42003295	In_Frame_Del	DEL	CAT	TCGA-CV-5976-01A-11D-1683-08		42003295	60528097	71	43561											
MAPKBP1	23005	broad.mit.edu	37	chr15	42110413	42110413	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacagacccctcagggAtctacattgccaccagctgt	10	8	9	14	0	2	2	1	0	1	2	2	3	2	3	4	1	4	2	4	1	1	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr15:42110413A>T	ENST00000457542.2	+	18	2288	c.2002A>T	c.(2002-2004)Atc>Ttc	p.I668F	MAPKBP1_ENST00000456763.2_Missense_Mutation_p.I674F|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.I551F|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.I507F|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.I668F	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	674								p.I668F(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCCCTCAGGGATCTACATTGC	0.572													11	49					0	0	0	0	T	42110413	A	T	42110413	3	4	240	1	0	0	0	0	1	0	0	0	9361	333	12	5	2090	5	MAPKBP1	15	42110413	Missense_Mutation	SNP	A	TCGA-CV-5976-01A-11D-1683-08	107118	42110413	60420979	72	43562											
IL16	3603	broad.mit.edu	37	chr15	81592385	81592385	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcaagtactgtcctcGgggtcccctgcagcctccga	6	8	11	16	2	0	1	0	1	0	0	4	2	3	1	6	2	4	3	6	2	2	1	rs142057384		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr15:81592385G>A	ENST00000394660.2	+	14	3078	c.2718G>A	c.(2716-2718)tcG>tcA	p.S906S	IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Silent_p.S205S|IL16_ENST00000302987.4_Silent_p.S906S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	906			S -> L (in dbSNP:rs17875513).		immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TACTGTCCTCGGGGTCCCCTG	0.647													3	78					0	0	0	0	A	81592385	G	A	81592385	2	1	240	1	0	0	0	0	0	0	0	1	7686	1103	39	1		1	IL16	15	81592385	Silent	SNP	G	TCGA-CV-5976-01A-11D-1683-08	39481972	81592385	20939007	73	43563											
FLYWCH1	84256	broad.mit.edu	37	chr16	2983757	2983757	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acgcccctggggggcagcttCctggtgtacgagtccttcct	4	10	13	14	2	0	0	0	0	0	0	3	1	3	0	5	4	2	3	5	4	1	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr16:2983757C>T	ENST00000399667.2	+	6	1653	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	FLYWCH1_ENST00000253928.9_Silent_p.F430F|FLYWCH1_ENST00000416288.2_Silent_p.F429F			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	430						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GGGGCAGCTTCCTGGTGTACG	0.682													7	9					0	0	0	0	T	2983757	C	T	2983757	2	4	240	1	0	0	0	0	0	0	0	1	5992	854	30	2		2	FLYWCH1	16	2983757	Silent	SNP	C	TCGA-CV-5976-01A-11D-1683-08		2983757	87370996	74	43564											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	15					0	0	0	0	C	7578190	T	C	7578190	3	2	240	1	0	0	0	0	1	0	0	0	16476	1406	49	5	635	5	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-CV-5976-01A-11D-1683-08		7578190	73617020	75	43565											
TP53	7157	broad.mit.edu	37	chr17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgcaagaagcccagaCggaaaccgtagctgccctgg	13	4	12	12	2	0	3	0	0	0	3	0	4	0	4	3	2	5	3	3	2	5	1	rs11540654		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr17:7579358C>A	ENST00000420246.2	-	4	461	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAAGCCCAGACGGAAACCGTA	0.612		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	45					0.000422831	0.000448569	1	0	A	7579358	C	A	7579358	3	1	240	1	0	0	0	0	1	0	0	0	16476	536	19	3	973	3	TP53	17	7579358	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	1168	7579358	73615852	76	43566											
GPR179	440435	broad.mit.edu	37	chr17	36485397	36485397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttcctggcctccacaCtgtcccccgcctcagatttg	5	10	6	20	1	1	1	1	0	0	1	4	1	4	1	8	1	0	0	8	1	0	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr17:36485397C>A	ENST00000342292.4	-	11	4075	c.4055G>T	c.(4054-4056)aGt>aTt	p.S1352I		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1352						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGCCTCCACACTGTCCCCCGC	0.627													10	44					1.58986e-06	1.73182e-06	1	0	A	36485397	C	A	36485397	3	1	240	1	0	0	0	0	1	0	0	0	6723	565	20	4	3052	4	GPR179	17	36485397	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	28906039	36485397	44709813	77	43567											
DCC	1630	broad.mit.edu	37	chr18	50942511	50942511	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtggaacaccctgacaaaAtggctaatgaccaaggtatg	15	7	10	9	0	0	2	0	2	0	0	0	3	0	3	2	3	1	2	2	3	6	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr18:50942511A>C	ENST00000442544.2	+	21	3764	c.3148A>C	c.(3148-3150)Atg>Ctg	p.M1050L	DCC_ENST00000581580.1_Missense_Mutation_p.M685L|DCC_ENST00000412726.1_Missense_Mutation_p.M878L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1050					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.M1050L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCCTGACAAAATGGCTAATGA	0.378													10	10					0	0	0	0	C	50942511	A	C	50942511	3	2	240	1	0	0	0	0	1	0	0	0	4314	101	4	5	3230	5	DCC	18	50942511	Missense_Mutation	SNP	A	TCGA-CV-5976-01A-11D-1683-08		50942511	27134737	78	43568											
DOK6	220164	broad.mit.edu	37	chr18	67406313	67406313	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgagcaacatgaaagattaAtgctagaaatggaacagaag	19	7	10	5	0	0	5	0	2	0	3	0	6	0	6	0	1	4	2	0	1	7	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr18:67406313A>T	ENST00000382713.5	+	6	902	c.712A>T	c.(712-714)Atg>Ttg	p.M238L	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	238				M -> V (in Ref. 5; BAB71577).			insulin receptor binding	p.M238L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TGAAAGATTAATGCTAGAAAT	0.443													34	35					0	0	0	0	T	67406313	A	T	67406313	3	4	240	1	0	0	0	0	1	0	0	0	4737	101	4	5	734	5	DOK6	18	67406313	Missense_Mutation	SNP	A	TCGA-CV-5976-01A-11D-1683-08	16463802	67406313	10670935	79	43569											
CTDP1	9150	broad.mit.edu	37	chr18	77489013	77489013	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgacagcccagtatgtctGagacaatgccgctgtacact	11	8	10	12	2	1	1	0	1	1	1	1	3	1	1	2	0	4	3	2	0	3	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr18:77489013G>C	ENST00000299543.7	+	11	2671	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q	CTDP1_ENST00000075430.7_Intron	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	842					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CAGTATGTCTGAGACAATGCC	0.592													4	189					0	0	0	0	C	77489013	G	C	77489013	3	2	240	1	0	0	0	0	1	0	0	0	4034	1291	45	2	2566	2	CTDP1	18	77489013	Missense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	10082700	77489013	588235	80	43570											
LONP1	9361	broad.mit.edu	37	chr19	5699115	5699115	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcggttcagggcgcgggcGatggagcgagcaatgctggt	6	8	18	9	5	2	0	1	0	1	0	3	3	2	1	0	5	3	3	0	5	1	1			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:5699115G>A	ENST00000360614.3	-	10	1765	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	LONP1_ENST00000585374.1_Silent_p.I422I|LONP1_ENST00000593119.1_Silent_p.I472I|LONP1_ENST00000590729.1_Silent_p.I406I|LONP1_ENST00000540670.2_Silent_p.I340I	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	536					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGCGCGGGCGATGGAGCGAG	0.632													17	71					0	0	0	0	A	5699115	G	A	5699115	2	1	240	1	0	0	0	0	0	0	0	1	8956	1048	37	1		1	LONP1	19	5699115	Silent	SNP	G	TCGA-CV-5976-01A-11D-1683-08		5699115	53429868	81	43571											
FKBP8	23770	broad.mit.edu	37	chr19	18649084	18649084	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggagttggcggccaggacGaagtccgcccgctggtagtg	7	7	17	10	4	0	0	0	0	0	0	1	3	1	2	3	5	0	3	3	5	3	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:18649084G>A	ENST00000597960.2	-	5	834	c.714C>T	c.(712-714)ttC>ttT	p.F238F	FKBP8_ENST00000596558.1_Silent_p.F237F|FKBP8_ENST00000222308.3_Silent_p.F238F|FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000453489.2_Silent_p.F266F			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	237					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CGGCCAGGACGAAGTCCGCCC	0.667													5	68					0	0	0	0	A	18649084	G	A	18649084	2	1	240	1	0	0	0	0	0	0	0	1	5959	1049	37	1		1	FKBP8	19	18649084	Silent	SNP	G	TCGA-CV-5976-01A-11D-1683-08	12949969	18649084	40479899	82	43572											
ZFP36	7538	broad.mit.edu	37	chr19	39898771	39898771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctgcgccaggccaatcGccaccccaaatacaagacgg	12	3	10	16	4	0	1	0	0	0	1	1	2	0	1	5	2	3	1	5	2	4	1			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:39898771G>A	ENST00000597629.1	+	2	505	c.431G>A	c.(430-432)cGc>cAc	p.R144H	ZFP36_ENST00000594045.1_3'UTR|ZFP36_ENST00000248673.3_Missense_Mutation_p.R138H			P26651	TTP_HUMAN	ZFP36 ring finger protein	138					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGGCCAATCGCCACCCCAAA	0.612													37	93					0	0	0	0	A	39898771	G	A	39898771	3	1	240	1	0	0	0	0	1	0	0	0	17740	1087	38	1	419	1	ZFP36	19	39898771	Missense_Mutation	SNP	G	TCGA-CV-5976-01A-11D-1683-08	21249687	39898771	19230212	83	43573											
DHX34	9704	broad.mit.edu	37	chr19	47856424	47856424	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatgccttcttccgtgAagaggattacatccgtcagg	10	10	12	9	2	2	3	1	1	1	2	4	5	4	5	3	3	2	0	3	3	3	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:47856424A>G	ENST00000328771.4	+	2	486	c.137A>G	c.(136-138)gAa>gGa	p.E46G		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	46						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TTCTTCCGTGAAGAGGATTAC	0.537													17	40					0	0	0	0	G	47856424	A	G	47856424	3	3	240	1	0	0	0	0	1	0	0	0	4544	246	9	5	139	5	DHX34	19	47856424	Missense_Mutation	SNP	A	TCGA-CV-5976-01A-11D-1683-08	7957653	47856424	11272559	84	43574											
PPP1R12C	54776	broad.mit.edu	37	chr19	55605735	55605735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggacctccgagactggCgcatgagacgggagcgagct	8	6	17	10	4	0	2	0	1	0	2	1	7	1	4	2	3	2	2	2	3	0	0			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:55605735C>T	ENST00000263433.3	-	13	1676	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R480H|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R554H	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	554						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCGAGACTGGCGCATGAGACG	0.642													12	50					0	0	0	0	T	55605735	C	T	55605735	3	4	240	1	0	0	0	0	1	0	0	0	12432	768	27	1	727	1	PPP1R12C	19	55605735	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	7749311	55605735	3523248	85	43575											
KCNB1	3745	broad.mit.edu	37	chr20	47991218	47991218	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggaagatctggaccacgcgGcggacattctggaattgcag	10	7	14	10	4	2	1	0	0	2	1	2	5	2	5	1	5	1	1	1	5	2	2			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr20:47991218G>A	ENST00000371741.4	-	2	1045	c.879C>T	c.(877-879)cgC>cgT	p.R293R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	293					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGACCACGCGGCGGACATTCT	0.537													20	34					0	0	0	0	A	47991218	G	A	47991218	2	1	240	1	0	0	0	0	0	0	0	1	8065	1190	42	4		4	KCNB1	20	47991218	Silent	SNP	G	TCGA-CV-5976-01A-11D-1683-08		47991218	15034302	86	43576											
BAGE2	85319	broad.mit.edu	37	chr21	11039138	11039138	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgttcctcaggacataatGaagtgctttcctcatgtggg	9	13	10	9	0	2	1	2	1	0	0	4	2	4	2	2	2	1	2	2	2	2	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr21:11039138G>A	ENST00000470054.1	-	0	1065									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGACATAATGAAGTGCTTTC	0.403													17	295					0	0	0	0	A	11039138	G	A	11039138	1	1	240	0	1	0	0	0	0	0	0	0	1296	1305	45	2		2	BAGE2	21	11039138	RNA	SNP	G	TCGA-CV-5976-01A-11D-1683-08		11039138	37090757	87	43577											
CXorf22	170063	broad.mit.edu	37	chrX	35993984	35993984	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagtttcaatggcaaccCgtaaacacaggaagagggat	14	7	11	9	1	2	1	2	0	0	1	2	3	2	3	1	3	2	4	1	3	5	2	rs138251686		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chrX:35993984C>A	ENST00000297866.5	+	15	2733	c.2667C>A	c.(2665-2667)ccC>ccA	p.P889P		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	889										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATGGCAACCCGTAAACACAG	0.358													22	38					7.87624e-14	9.06511e-14	1	0	A	35993984	C	A	35993984	2	1	240	1	0	0	0	0	0	0	0	1	4134	639	23	3		3	CXorf22	23	35993984	Silent	SNP	C	TCGA-CV-5976-01A-11D-1683-08		35993984	119276576	88	43578											
MED14	9282	broad.mit.edu	37	chrX	40511065	40511065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaatagtgtctatggaCgcccaccagggggcagtgta	13	7	12	9	1	1	0	0	0	1	0	1	1	1	1	2	3	1	2	2	3	6	3			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chrX:40511065C>T	ENST00000324817.1	-	31	4476	c.4358G>A	c.(4357-4359)cGt>cAt	p.R1453H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1453					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTCTATGGACGCCCACCAGG	0.388													3	3					0	0	0	0	T	40511065	C	T	40511065	3	4	240	1	0	0	0	0	1	0	0	0	9501	536	19	1	10	1	MED14	23	40511065	Missense_Mutation	SNP	C	TCGA-CV-5976-01A-11D-1683-08	4517081	40511065	114759495	89	43579											
SDF4	51150	broad.mit.edu	37	chr1	1164118	1164118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccagaggcagcacggaGccaggccaatgaggggaccc	11	1	17	12	1	0	2	0	1	0	1	0	5	0	5	4	6	3	2	4	6	1	0			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:1164118G>A	ENST00000263741.7	-	2	348	c.56C>T	c.(55-57)gCt>gTt	p.A19V	SDF4_ENST00000360001.6_Missense_Mutation_p.A19V|SDF4_ENST00000459994.2_5'UTR|SDF4_ENST00000545427.1_Missense_Mutation_p.A19V	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	19					cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	p.A19V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCAGCACGGAGCCAGGCCAAT	0.692													6	16					0	0	0	0	A	1164118	G	A	1164118	3	1	241	1	0	0	0	0	1	0	0	0	14049	971	34	4	1172	4	SDF4	1	1164118	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08		1164118	248086503	1	43580											
EPHA8	2046	broad.mit.edu	37	chr1	22902848	22902848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcccggcgcgtctatgctGagatcaagtttaccctgcgc	6	9	12	14	5	2	1	1	1	1	1	2	2	2	1	2	1	3	2	2	1	3	3			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:22902848G>A	ENST00000166244.3	+	3	370	c.298G>A	c.(298-300)Gag>Aag	p.E100K	EPHA8_ENST00000538803.1_Missense_Mutation_p.E100K|EPHA8_ENST00000374644.4_Missense_Mutation_p.E100K	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	100						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGTCTATGCTGAGATCAAGTT	0.612													11	54					0	0	0	0	A	22902848	G	A	22902848	3	1	241	1	0	0	0	0	1	0	0	0	5211	1291	45	2	308	2	EPHA8	1	22902848	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	21738730	22902848	226347773	2	43581											
COL16A1	1307	broad.mit.edu	37	chr1	32118423	32118423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattggtcctgttgcaccCatcttgccatagcctggagg	6	11	10	14	0	1	0	0	0	1	0	2	1	2	1	5	3	3	2	5	3	1	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:32118423C>T	ENST00000373672.3	-	71	5160	c.4644G>A	c.(4642-4644)atG>atA	p.M1548I	RP11-73M7.6_ENST00000591929.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.M1548I|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1548	Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGTTGCACCCATCTTGCCAT	0.592													9	25					0	0	0	0	T	32118423	C	T	32118423	3	4	241	1	0	0	0	0	1	0	0	0	3703	594	21	4	174	4	COL16A1	1	32118423	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	9215575	32118423	217132198	3	43582											
C1orf173	127254	broad.mit.edu	37	chr1	75072310	75072310	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaagtattttcctggtcGtcttccaagacttcttgtcc	7	18	6	10	1	2	1	0	0	2	1	6	1	5	1	3	1	0	1	3	1	4	8			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:75072310G>A	ENST00000326665.5	-	10	1682	c.1464C>T	c.(1462-1464)gaC>gaT	p.D488D	C1orf173_ENST00000420661.2_Silent_p.D291D|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	488	Glu-rich.									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						TTTCCTGGTCGTCTTCCAAGA	0.358													70	50					0	0	0	0	A	75072310	G	A	75072310	2	1	241	1	0	0	0	0	0	0	0	1	2033	1136	40	1		1	C1orf173	1	75072310	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08	42953887	75072310	174178311	4	43583											
LRRC8D	55144	broad.mit.edu	37	chr1	90398915	90398915	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagatgggcggacaacaaaCgacatttcctttgggacatc	13	8	10	10	2	0	1	0	0	0	1	2	4	1	3	1	3	2	0	1	3	3	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:90398915C>T	ENST00000337338.5	+	3	695	c.288C>T	c.(286-288)aaC>aaT	p.N96N	LRRC8D_ENST00000394593.3_Silent_p.N96N	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	96						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GGACAACAAACGACATTTCCT	0.498													31	10					0	0	0	0	T	90398915	C	T	90398915	2	4	241	1	0	0	0	0	0	0	0	1	9088	535	19	1		1	LRRC8D	1	90398915	Silent	SNP	C	TCGA-CV-5977-01A-11D-1683-08	15326605	90398915	158851706	5	43584											
ABCD3	5825	broad.mit.edu	37	chr1	94953518	94953518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaatagttttggctgggcGtgaaatgactagattggccg	9	12	14	6	3	0	3	0	2	0	1	1	4	0	3	1	3	0	2	1	3	4	5			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:94953518G>A	ENST00000370214.4	+	13	1160	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Missense_Mutation_p.R403H|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000536817.1_Missense_Mutation_p.R306H	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	379					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTGGCTGGGCGTGAAATGACT	0.323													17	72					0	0	0	0	A	94953518	G	A	94953518	3	1	241	1	0	0	0	0	1	0	0	0	62	1145	40	1	1217	1	ABCD3	1	94953518	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	4554603	94953518	154297103	6	43585											
ZNF687	57592	broad.mit.edu	37	chr1	151260525	151260525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgcacgtgaacacaaGgacaaggggctcgtcatgca	12	6	12	11	2	1	1	1	1	0	0	2	2	1	2	0	3	4	4	0	3	3	0			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:151260525G>A	ENST00000368879.2	+	2	1856	c.1758G>A	c.(1756-1758)aaG>aaA	p.K586K		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGAACACAAGGACAAGGGGC	0.607													13	53					0	0	0	0	A	151260525	G	A	151260525	2	1	241	1	0	0	0	0	0	0	0	1	18187	991	35	4		4	ZNF687	1	151260525	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08	56307007	151260525	97990096	7	43586											
DARC	2532	broad.mit.edu	37	chr1	159175312	159175312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcgaagatgtatggaattCttcctatggtgtgaatgatt	10	16	10	5	1	1	3	0	2	1	1	3	5	2	4	1	2	0	1	1	2	5	6			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:159175312C>T	ENST00000537147.1	+	3	926	c.83C>T	c.(82-84)tCt>tTt	p.S28F	DARC_ENST00000368122.2_Missense_Mutation_p.S28F|DARC_ENST00000368121.2_Missense_Mutation_p.S30F			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	28					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GTATGGAATTCTTCCTATGGT	0.537													11	54					0	0	0	0	T	159175312	C	T	159175312	3	4	241	1	0	0	0	0	1	0	0	0	4273	913	32	2	116	2	DARC	1	159175312	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	7914787	159175312	90075309	8	43587											
ABL2	27	broad.mit.edu	37	chr1	179077623	179077632	+	Frame_Shift_Del	DEL	GAGTGGTTGG	GAGTGGTTGG	-																															gactggcactttgtggttgtGagtggttgggaggacggggg																										TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:179077623_179077632delGAGTGGTTGG	ENST00000502732.1	-	12	2973_2982	c.2770_2779delCCAACCACTC	c.(2770-2781)acfs	p.PTTH924fs	ABL2_ENST00000408940.3_Frame_Shift_Del_p.PTTH888fs|ABL2_ENST00000504405.1_Frame_Shift_Del_p.PTTH785fs|ABL2_ENST00000344730.3_Frame_Shift_Del_p.PTTH806fs|ABL2_ENST00000367623.4_Frame_Shift_Del_p.PTTH903fs|ABL2_ENST00000512653.1_Frame_Shift_Del_p.PTTH909fs|ABL2_ENST00000511413.1_Frame_Shift_Del_p.PTTH821fs|ABL2_ENST00000507173.1_Frame_Shift_Del_p.PTTH800fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	924	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTGTGGTTGTGAGTGGTTGGGAGGACGGGG	0.557			T	ETV6	AML								8	81	---	---	---	---					-	179077632	GAGTGGTTGG	-	179077623	7	5	241	1	0	1	0	1	0	0	0	0	93	1290	45	0	773	0	ABL2	1	179077623	Frame_Shift_Del	DEL	GAGTGGTTGG	TCGA-CV-5977-01A-11D-1683-08	19902311	179077623	70172998	9	43588											
NLRP3	114548	broad.mit.edu	37	chr1	247597516	247597516	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacaacgccctcggtgacttCggaatcagacttctgtgtgt	8	11	11	11	3	2	2	1	1	1	1	4	4	2	3	1	2	1	0	1	2	2	2	rs143175395		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:247597516C>T	ENST00000366497.2	+	6	3219	c.2439C>T	c.(2437-2439)ttC>ttT	p.F813F	NLRP3_ENST00000366496.2_Silent_p.F813F|NLRP3_ENST00000391827.2_Silent_p.F756F|NLRP3_ENST00000336119.3_Silent_p.F813F|NLRP3_ENST00000391828.3_Silent_p.F813F|NLRP3_ENST00000348069.2_Silent_p.F756F	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	870					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCGGTGACTTCGGAATCAGAC	0.567													60	32					0	0	0	0	T	247597516	C	T	247597516	2	4	241	1	0	0	0	0	0	0	0	1	10548	883	31	1		1	NLRP3	1	247597516	Silent	SNP	C	TCGA-CV-5977-01A-11D-1683-08	68519893	247597516	1653105	10	43589											
CYP1B1	1545	broad.mit.edu	37	chr2	38301497	38301497	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaggctttacctggtgaaGaggaggagcagccactgcag	11	6	15	9	0	0	3	0	1	0	2	0	5	0	5	2	4	4	3	2	4	2	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:38301497G>A	ENST00000260630.3	-	2	1436	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L	CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Silent_p.L345L	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	345			L -> F (in POAG).		visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	ACCTGGTGAAGAGGAGGAGCA	0.602													6	16					0	0	0	0	A	38301497	G	A	38301497	2	1	241	1	0	0	0	0	0	0	0	1	4183	929	33	2		2	CYP1B1	2	38301497	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08		38301497	204897876	11	43590											
SMYD5	10322	broad.mit.edu	37	chr2	73447180	73447180	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggctctcaccgtcagcCtgtgaccactgccttagggc	5	10	11	15	1	3	1	2	1	2	0	4	1	3	1	4	2	2	1	4	2	1	1			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:73447180C>T	ENST00000389501.4	+	3	252	c.205_splice	c.e3-1	p.A69_splice	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	69							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CACCGTCAGCCTGTGACCACT	0.567													20	27					0	0	0	0	T	73447180	C	T	73447180	5	4	241	1	0	0	0	0	0	0	1	0	14913	695	24	4	217	4	SMYD5	2	73447180	Splice_Site	SNP	C	TCGA-CV-5977-01A-11D-1683-08	35145683	73447180	169752193	12	43591											
SEMA4F	10505	broad.mit.edu	37	chr2	74902408	74902408	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtgtttccagctgatggCcaccccctgctggtcactac	6	10	9	16	0	1	1	1	1	0	0	2	1	2	1	5	2	3	3	5	2	1	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:74902408C>T	ENST00000357877.2	+	10	1418	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	SEMA4F_ENST00000339773.5_Silent_p.G268G|SEMA4F_ENST00000473350.1_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	423	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CAGCTGATGGCCACCCCCTGC	0.587											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	25					0	0	0	0	T	74902408	C	T	74902408	2	4	241	1	0	0	0	0	0	0	0	1	14122	726	26	4		4	SEMA4F	2	74902408	Silent	SNP	C	TCGA-CV-5977-01A-11D-1683-08	1455228	74902408	168296965	13	43592											
NEB	4703	broad.mit.edu	37	chr2	152539188	152539188	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttacctcattgaggatGtctgaagctcgctttgcctt	6	15	10	10	1	2	2	1	2	1	0	3	3	2	3	2	2	3	3	2	2	2	5			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:152539188G>A	ENST00000427231.2	-	29	3133	c.2931C>T	c.(2929-2931)gaC>gaT	p.D977D	NEB_ENST00000604864.1_Silent_p.D977D|NEB_ENST00000603639.1_Silent_p.D977D|NEB_ENST00000397345.3_Silent_p.D977D|NEB_ENST00000409198.1_Silent_p.D977D|NEB_ENST00000172853.10_Silent_p.D977D	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	977					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTGAGGATGTCTGAAGCTC	0.468													13	10					0	0	0	0	A	152539188	G	A	152539188	2	1	241	1	0	0	0	0	0	0	0	1	10372	1368	48	4		4	NEB	2	152539188	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08	77636780	152539188	90660185	14	43593											
TTN	7273	broad.mit.edu	37	chr2	179642181	179642181	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcactgaaattgaagatctGcctgccctgttttgggcaac	10	12	9	10	0	2	3	1	2	1	1	2	3	2	3	2	1	3	2	2	1	3	3			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:179642181G>T	ENST00000589042.1	-	26	4835	c.4611C>A	c.(4609-4611)ggC>ggA	p.G1537G	TTN_ENST00000359218.5_Silent_p.G1491G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.G1537G|TTN_ENST00000460472.2_Silent_p.G1491G|TTN_ENST00000342175.6_Silent_p.G1491G|TTN_ENST00000360870.5_Silent_p.G1537G|TTN_ENST00000591111.1_Silent_p.G1537G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1537	Ig-like 6.						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)			TTGAAGATCTGCCTGCCCTGT	0.363													10	25					6.42651e-13	7.26248e-13	1	0	T	179642181	G	T	179642181	2	4	241	1	0	0	0	0	0	0	0	1	16831	1306	46	4		4	TTN	2	179642181	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08	27102993	179642181	63557192	15	43594											
TTN	7273	broad.mit.edu	37	chr2	179647599	179647599	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcactgcaagtaaatcGcccgctgtcttccgcaaatg	11	9	8	13	3	1	0	0	0	1	0	3	0	2	0	2	0	3	5	2	0	5	3			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:179647599G>A	ENST00000589042.1	-	18	3258	c.3034C>T	c.(3034-3036)Cga>Tga	p.R1012*	TTN_ENST00000359218.5_Nonsense_Mutation_p.R966*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R1012*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R966*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R966*|TTN_ENST00000360870.5_Nonsense_Mutation_p.R1012*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R1012*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1012	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1012*(2)		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)			CAAGTAAATCGCCCGCTGTCT	0.502													20	29					0	0	0	0	A	179647599	G	A	179647599	4	1	241	1	0	0	0	0	0	1	0	0	16831	1095	38	1	108334	1	TTN	2	179647599	Nonsense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	5418	179647599	63551774	16	43595											
PER2	8864	broad.mit.edu	37	chr2	239180022	239180022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgtggaacacgcccacatCgtgaggcgccaggaactcca	11	5	11	14	3	0	1	0	1	0	0	2	3	1	3	3	3	2	0	3	3	2	0			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:239180022C>T	ENST00000254657.3	-	6	982	c.703G>A	c.(703-705)Gat>Aat	p.D235N	PER2_ENST00000440245.1_Missense_Mutation_p.D235N|PER2_ENST00000355768.2_Missense_Mutation_p.D235N|PER2_ENST00000254658.3_Missense_Mutation_p.D235N	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	235	PAS 1.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		ACGCCCACATCGTGAGGCGCC	0.522													19	64					0	0	0	0	T	239180022	C	T	239180022	3	4	241	1	0	0	0	0	1	0	0	0	11801	884	31	1	3136	1	PER2	2	239180022	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	59532423	239180022	4019351	17	43596											
SETD5	55209	broad.mit.edu	37	chr3	9489625	9489625	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattaacagggtctgacccaActgtggtgtcaattactgga	11	11	10	9	0	2	1	1	1	1	0	2	2	2	2	1	3	3	0	1	3	4	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:9489625A>G	ENST00000402466.1	+	16	2512	c.1744A>G	c.(1744-1746)Act>Gct	p.T582A	SETD5_ENST00000302463.6_Missense_Mutation_p.T582A|SETD5_ENST00000406341.1_Missense_Mutation_p.T680A|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.T680A|SETD5_ENST00000407969.1_Missense_Mutation_p.T699A			Q9C0A6	SETD5_HUMAN	SET domain containing 5	680										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTCTGACCCAACTGTGGTGTC	0.443													2	10					0	0	0	0	G	9489625	A	G	9489625	3	3	241	1	0	0	0	0	1	0	0	0	14221	43	2	5	2088	5	SETD5	3	9489625	Missense_Mutation	SNP	A	TCGA-CV-5977-01A-11D-1683-08		9489625	188532805	18	43597											
NEK4	6787	broad.mit.edu	37	chr3	52797518	52797518	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccaaaaagaaggagatttgCcgctttatataaggctgcct	13	11	9	8	1	0	2	0	0	0	2	1	3	1	2	3	2	2	2	3	2	6	5			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:52797518C>T	ENST00000233027.5	-	5	991	c.789G>A	c.(787-789)cgG>cgA	p.R263R	NEK4_ENST00000383721.4_Silent_p.R263R|NEK4_ENST00000535191.1_Silent_p.R174R	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	263					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AGGAGATTTGCCGCTTTATAT	0.468													5	211					0	0	0	0	T	52797518	C	T	52797518	2	4	241	1	0	0	0	0	0	0	0	1	10396	726	26	4		4	NEK4	3	52797518	Silent	SNP	C	TCGA-CV-5977-01A-11D-1683-08	43307893	52797518	145224912	19	43598											
ITIH1	3697	broad.mit.edu	37	chr3	52819104	52819104	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccctgctggtggatgtggaTttgcagtacccccaggatgc	6	10	13	12	0	0	0	0	0	0	0	0	3	0	3	4	4	4	3	4	4	1	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:52819104T>C	ENST00000273283.2	+	12	1476	c.1452T>C	c.(1450-1452)gaT>gaC	p.D484D	ITIH1_ENST00000542827.1_Silent_p.D484D|ITIH1_ENST00000540715.1_Silent_p.D342D|ITIH1_ENST00000537050.1_Silent_p.D196D	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	484	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGGATGTGGATTTGCAGTACC	0.562													22	44					0	0	0	0	C	52819104	T	C	52819104	2	2	241	1	0	0	0	0	0	0	0	1	7956	1490	52	5		5	ITIH1	3	52819104	Silent	SNP	T	TCGA-CV-5977-01A-11D-1683-08	21586	52819104	145203326	20	43599											
TMPRSS7	344805	broad.mit.edu	37	chr3	111794206	111794206	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccttcaccgcatcatcGgaggcacagacaccctggag	9	5	10	17	3	2	1	2	0	0	1	3	3	2	3	4	3	0	2	4	3	0	1			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:111794206G>C	ENST00000452346.2	+	15	1825	c.1822G>C	c.(1822-1824)Gga>Cga	p.G608R	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.G482R			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	608	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCGCATCATCGGAGGCACAGA	0.552													7	180					0	0	0	0	C	111794206	G	C	111794206	3	2	241	1	0	0	0	0	1	0	0	0	16346	1117	39	3	1490	3	TMPRSS7	3	111794206	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	58975102	111794206	86228224	21	43600											
CASR	846	broad.mit.edu	37	chr3	121980580	121980580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgagaggaagctgaggaaaGggatatctgcatcgacttca	13	7	13	8	2	2	2	1	1	1	1	3	7	2	5	1	3	2	2	1	3	3	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:121980580G>T	ENST00000498619.1	+	4	1136	c.698G>T	c.(697-699)aGg>aTg	p.R233M	CASR_ENST00000296154.5_Missense_Mutation_p.R233M|CASR_ENST00000490131.1_Missense_Mutation_p.R233M	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	233					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCTGAGGAAAGGGATATCTGC	0.502													7	301					0.0293803	0.0307058	1	0	T	121980580	G	T	121980580	3	4	241	1	0	0	0	0	1	0	0	0	2707	1000	35	4	708	4	CASR	3	121980580	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	10186374	121980580	76041850	22	43601											
CHST2	9435	broad.mit.edu	37	chr3	142841109	142841109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggccgccaatgcctggcGgaccgccctcaccttccagc	6	5	11	19	3	1	0	1	0	0	0	2	1	2	1	7	3	2	1	7	3	1	1			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:142841109G>A	ENST00000309575.3	+	2	2835	c.1451G>A	c.(1450-1452)cGg>cAg	p.R484Q		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	484					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						AATGCCTGGCGGACCGCCCTC	0.612													6	67					0	0	0	0	A	142841109	G	A	142841109	3	1	241	1	0	0	0	0	1	0	0	0	3433	1116	39	1	1453	1	CHST2	3	142841109	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	20860529	142841109	55181321	23	43602											
TTC14	151613	broad.mit.edu	37	chr3	180322057	180322057	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttctcacagtaaccatggGgatcctttatcatattacca	11	13	5	12	0	2	0	2	0	1	0	4	1	3	1	4	2	2	1	4	2	4	6			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:180322057G>A	ENST00000412756.2	+	4	600	c.531G>A	c.(529-531)ggG>ggA	p.G177G	TTC14_ENST00000296015.4_Silent_p.G177G|TTC14_ENST00000382584.4_Silent_p.G177G	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	177	S1 motif.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTAACCATGGGGATCCTTTAT	0.328													66	56					0	0	0	0	A	180322057	G	A	180322057	2	1	241	1	0	0	0	0	0	0	0	1	16777	1219	43	4		4	TTC14	3	180322057	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08	37480948	180322057	17700373	24	43603											
RNF168	165918	broad.mit.edu	37	chr3	196199094	196199094	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttcttgtttatgtctctCaaacagtagatgctccaaat	10	17	5	9	0	4	1	1	0	3	1	6	1	5	1	1	0	2	3	1	0	4	6			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:196199094C>G	ENST00000318037.3	-	6	1906	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	438					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TTATGTCTCTCAAACAGTAGA	0.413													48	195					0	0	0	0	G	196199094	C	G	196199094	3	3	241	1	0	0	0	0	1	0	0	0	13544	835	29	2	407	2	RNF168	3	196199094	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	15877037	196199094	1823336	25	43604											
GUF1	60558	broad.mit.edu	37	chr4	44688655	44688655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaggagataaaattgtatCtgcacatactcaaaagacat	19	9	6	7	0	2	2	1	0	1	2	2	3	2	2	0	1	2	2	0	1	7	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr4:44688655C>T	ENST00000281543.5	+	8	1057	c.863C>T	c.(862-864)tCt>tTt	p.S288F	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	288					translation	mitochondrial inner membrane	GTP binding|GTPase activity	p.S288F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AAAATTGTATCTGCACATACT	0.363													15	90					0	0	0	0	T	44688655	C	T	44688655	3	4	241	1	0	0	0	0	1	0	0	0	6949	913	32	2	893	2	GUF1	4	44688655	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08		44688655	146465621	26	43605											
USP53	54532	broad.mit.edu	37	chr4	120213723	120213723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgaacagtaatgaaccatCttcattatggtcttcacacc	13	12	6	10	0	4	2	2	2	2	0	4	2	4	2	2	1	2	1	2	1	4	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr4:120213723C>T	ENST00000450251.1	+	15	3123	c.2579C>T	c.(2578-2580)tCt>tTt	p.S860F	USP53_ENST00000274030.6_Missense_Mutation_p.S860F			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	860					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AATGAACCATCTTCATTATGG	0.388													18	42					0	0	0	0	T	120213723	C	T	120213723	3	4	241	1	0	0	0	0	1	0	0	0	17180	913	32	2	2637	2	USP53	4	120213723	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	75525068	120213723	70940553	27	43606											
FAT4	79633	broad.mit.edu	37	chr4	126240974	126240974	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggccaaatggagaagtaagGtattcttttgaaatggtgca	13	11	13	4	0	1	2	0	1	1	1	1	3	1	2	1	4	1	3	1	4	5	5			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr4:126240974G>C	ENST00000394329.3	+	1	3421	c.3408G>C	c.(3406-3408)agG>agC	p.R1136S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1136	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGAAGTAAGGTATTCTTTTG	0.433													29	131					0	0	0	0	C	126240974	G	C	126240974	3	2	241	1	0	0	0	0	1	0	0	0	5737	1252	44	4	3410	4	FAT4	4	126240974	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	6027251	126240974	64913302	28	43607											
KIAA0922	23240	broad.mit.edu	37	chr4	154542878	154542878	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcttgtgtgcagtgactttGagaggtctgagctgagcagt	8	12	15	6	0	1	4	0	4	1	1	1	5	1	4	0	1	4	4	0	1	0	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr4:154542878G>C	ENST00000409959.3	+	28	3785	c.3736G>C	c.(3736-3738)Gag>Cag	p.E1246Q	KIAA0922_ENST00000440693.1_Missense_Mutation_p.E1162Q|KIAA0922_ENST00000409663.3_Missense_Mutation_p.E1245Q	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1245						integral to membrane		p.E1098Q(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CAGTGACTTTGAGAGGTCTGA	0.428													7	27					0	0	0	0	C	154542878	G	C	154542878	3	2	241	1	0	0	0	0	1	0	0	0	8252	1291	45	2	3846	2	KIAA0922	4	154542878	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	28301904	154542878	36611398	29	43608											
ATG10	83734	broad.mit.edu	37	chr5	81549160	81549160	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactatatcacatcatggctGagcattgtagggccagttgt	11	12	10	8	0	2	1	2	1	0	0	2	1	2	1	1	2	2	4	1	2	4	5			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:81549160G>C	ENST00000282185.3	+	7	873	c.579G>C	c.(577-579)ctG>ctC	p.L193L	ATG10_ENST00000458350.3_Silent_p.L193L|ATG10_ENST00000514253.2_Intron	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	193					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		CATCATGGCTGAGCATTGTAG	0.413													14	57					0	0	0	0	C	81549160	G	C	81549160	2	2	241	1	0	0	0	0	0	0	0	1	1093	1277	45	2		2	ATG10	5	81549160	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08		81549160	99366100	30	43609											
IL3	3562	broad.mit.edu	37	chr5	131398259	131398259	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccacggccgcacccaCggtaagctgtcccccaagat	8	5	10	18	3	0	1	0	0	0	1	1	1	1	1	6	3	1	3	6	3	2	1			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:131398259C>T	ENST00000296870.2	+	4	513	c.336_splice	c.e4+1	p.T112_splice		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3 (colony-stimulating factor, multiple)	112					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	GCCGCACCCACggtaagctgt	0.562											OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	137					0	0	0	0	T	131398259	C	T	131398259	5	4	241	1	0	0	0	0	0	0	1	0	7742	550	19	1	349	1	IL3	5	131398259	Splice_Site	SNP	C	TCGA-CV-5977-01A-11D-1683-08	49849099	131398259	49517001	31	43610											
PCDHB8	56128	broad.mit.edu	37	chr5	140559041	140559041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacatcggcagcgtcagcGccacagacagagactcgggc	10	4	13	14	4	1	2	1	0	0	2	3	3	1	2	1	2	3	2	1	2	0	0			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:140559041G>A	ENST00000239444.2	+	1	1671	c.1426G>A	c.(1426-1428)Gcc>Acc	p.A476T		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		476	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCGTCAGCGCCACAGACAG	0.657													18	122					0	0	0	0	A	140559041	G	A	140559041	3	1	241	1	0	0	0	0	1	0	0	0	11619	1087	38	1	1428	1	PCDHB8	5	140559041	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	9160782	140559041	40356219	32	43611											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755613	140755613	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacggccagccccctctcTccgccactgtcacgctcacc	6	6	6	23	3	3	0	2	0	1	0	5	0	4	0	7	1	1	1	7	1	0	0			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:140755613T>G	ENST00000517434.1	+	1	1963	c.1963T>G	c.(1963-1965)Tcc>Gcc	p.S655A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCCTCTCTCCGCCACTGT	0.706													11	33					0	0	0	0	G	140755613	T	G	140755613	3	3	241	1	0	0	0	0	1	0	0	0	11629	1551	54	5	1965	5	PCDHGA6	5	140755613	Missense_Mutation	SNP	T	TCGA-CV-5977-01A-11D-1683-08	196572	140755613	40159647	33	43612											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764535	140764535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttacaactatgacctcaCgttgtacctggtggtggcgg	7	12	11	11	2	1	1	1	1	0	0	2	1	2	1	3	4	3	2	3	4	4	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:140764535C>T	ENST00000518325.1	+	1	2069	c.2069C>T	c.(2068-2070)aCg>aTg	p.T690M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGACCTCACGTTGTACCTG	0.632													27	27					0	0	0	0	T	140764535	C	T	140764535	3	4	241	1	0	0	0	0	1	0	0	0	11630	536	19	1	2071	1	PCDHGA7	5	140764535	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	8922	140764535	40150725	34	43613											
GABRG2	2566	broad.mit.edu	37	chr5	161569195	161569195	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgtggtcatgtctgtctaCtttgatctgagcagaagaat	10	15	10	6	0	4	4	1	2	3	2	4	4	4	4	0	1	2	1	0	1	4	3			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:161569195C>G	ENST00000356592.3	+	7	1255	c.795C>G	c.(793-795)taC>taG	p.Y265*	GABRG2_ENST00000393933.4_Nonsense_Mutation_p.Y170*|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.Y305*|GABRG2_ENST00000361925.4_Nonsense_Mutation_p.Y265*	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	265					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGTCTGTCTACTTTGATCTGA	0.403													4	128					0	0	0	0	G	161569195	C	G	161569195	4	3	241	1	0	0	0	0	0	1	0	0	6220	576	20	4	945	4	GABRG2	5	161569195	Nonsense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	20804660	161569195	19346065	35	43614											
WWC1	23286	broad.mit.edu	37	chr5	167896016	167896016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctctctctgcagatgaCgtctaatcgccagaaaagta	12	9	8	12	2	3	3	0	1	3	2	5	3	3	3	2	0	2	3	2	0	4	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:167896016C>T	ENST00000265293.4	+	23	3838	c.3336C>T	c.(3334-3336)gaC>gaT	p.D1112D	WWC1_ENST00000521089.1_Silent_p.D1118D	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1112	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTGCAGATGACGTCTAATCGC	0.453													8	24					0	0	0	0	T	167896016	C	T	167896016	2	4	241	1	0	0	0	0	0	0	0	1	17507	535	19	1		1	WWC1	5	167896016	Silent	SNP	C	TCGA-CV-5977-01A-11D-1683-08	6326821	167896016	13019244	36	43615											
GRM6	2916	broad.mit.edu	37	chr5	178416069	178416069	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgggcaatggcgtacacCgcatcaatcacaaactgcac	12	6	10	13	3	2	0	2	0	0	0	2	0	2	0	1	2	3	4	1	2	4	1			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:178416069C>T	ENST00000231188.5	-	6	1399	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	GRM6_ENST00000517717.1_Silent_p.A407A|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	407					detection of visible light|visual perception	integral to plasma membrane		p.A407A(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGGCGTACACCGCATCAATCA	0.647													4	17					0	0	0	0	T	178416069	C	T	178416069	2	4	241	1	0	0	0	0	0	0	0	1	6851	639	23	1		1	GRM6	5	178416069	Silent	SNP	C	TCGA-CV-5977-01A-11D-1683-08	10520053	178416069	2499191	37	43616											
GRM4	2914	broad.mit.edu	37	chr6	34101144	34101144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgtccccatctatgcGgatggaattcatgtgagggt	8	13	13	7	1	2	2	1	2	1	0	3	4	3	4	2	3	1	0	2	3	2	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr6:34101144G>A	ENST00000374181.3	-	1	299	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	GRM4_ENST00000538487.1_Missense_Mutation_p.R44C|GRM4_ENST00000374177.3_Intron	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	44					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R44C(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CCATCTATGCGGATGGAATTC	0.612													9	27					0	0	0	0	A	34101144	G	A	34101144	3	1	241	1	0	0	0	0	1	0	0	0	6849	1116	39	1	2648	1	GRM4	6	34101144	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08		34101144	137013923	38	43617											
GPR116	221395	broad.mit.edu	37	chr6	46846093	46846093	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcataacatctattttcttCttgcactcatattcaaaaat	13	16	3	9	0	5	0	2	0	3	0	5	0	5	0	0	1	2	2	0	1	5	8			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr6:46846093C>T	ENST00000283296.7	-	10	1374	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	GPR116_ENST00000265417.7_Silent_p.K362K|GPR116_ENST00000362015.4_Silent_p.K362K|GPR116_ENST00000456426.2_Intron	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	362	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTATTTTCTTCTTGCACTCAT	0.328													9	35					0	0	0	0	T	46846093	C	T	46846093	2	4	241	1	0	0	0	0	0	0	0	1	6682	912	32	2		2	GPR116	6	46846093	Silent	SNP	C	TCGA-CV-5977-01A-11D-1683-08	12744949	46846093	124268974	39	43618											
HCRTR2	3062	broad.mit.edu	37	chr6	55113499	55113499	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaactacttcatagtcaatCtttctctggctgatgtgctc	8	15	6	12	0	4	1	2	1	2	0	6	1	4	1	1	1	3	2	1	1	4	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr6:55113499C>G	ENST00000370862.3	+	2	622	c.286C>G	c.(286-288)Ctt>Gtt	p.L96V		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	96					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.L96V(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATAGTCAATCTTTCTCTGGC	0.458													76	95					0	0	0	0	G	55113499	C	G	55113499	3	3	241	1	0	0	0	0	1	0	0	0	7052	913	32	2	292	2	HCRTR2	6	55113499	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	8267406	55113499	116001568	40	43619											
FBXL18	80028	broad.mit.edu	37	chr7	5540952	5540952	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggctgaaactgaagtagaaCgggttgttgaatttcatgtg	11	12	13	5	2	1	4	1	3	0	1	1	4	1	4	0	2	2	4	0	2	5	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:5540952C>T	ENST00000382368.3	-	3	1071	c.948G>A	c.(946-948)ccG>ccA	p.P316P	FBXL18_ENST00000453700.3_Silent_p.P316P	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	316									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TGAAGTAGAACGGGTTGTTGA	0.597													12	15					0	0	0	0	T	5540952	C	T	5540952	2	4	241	1	0	0	0	0	0	0	0	1	5759	523	19	1		1	FBXL18	7	5540952	Silent	SNP	C	TCGA-CV-5977-01A-11D-1683-08		5540952	153597711	41	43620											
PCLO	27445	broad.mit.edu	37	chr7	82579315	82579315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcttatggttccaactGgttcagtttgcacagatatc	8	16	9	8	0	2	1	1	0	1	1	4	1	3	1	1	2	2	5	1	2	3	6			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:82579315G>A	ENST00000423517.2	-	6	10926	c.10589C>T	c.(10588-10590)cCa>cTa	p.P3530L	PCLO_ENST00000333891.8_Missense_Mutation_p.P3530L|PCLO_ENST00000437081.1_Missense_Mutation_p.P250L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3461					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTCCAACTGGTTCAGTTTG	0.463													13	21					0	0	0	0	A	82579315	G	A	82579315	3	1	241	1	0	0	0	0	1	0	0	0	11654	1348	47	4	4936	4	PCLO	7	82579315	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	77038363	82579315	76559348	42	43621											
COL1A2	1278	broad.mit.edu	37	chr7	94056511	94056511	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccttagggccctgctggTccttctggccctgctggaaa	4	12	11	14	0	1	0	0	0	1	0	3	1	3	1	4	4	2	2	4	4	2	3			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:94056511T>C	ENST00000297268.6	+	48	3642	c.3171T>C	c.(3169-3171)ggT>ggC	p.G1057G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1057					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCCCTGCTGGTCCTTCTGGCC	0.587										HNSCC(75;0.22)			7	12					0	0	0	0	C	94056511	T	C	94056511	2	2	241	1	0	0	0	0	0	0	0	1	3708	1654	58	5		5	COL1A2	7	94056511	Silent	SNP	T	TCGA-CV-5977-01A-11D-1683-08	11477196	94056511	65082152	43	43622											
CYP3A4	1576	broad.mit.edu	37	chr7	99364768	99364768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttaccttttgtgtatcttCgaggcgactttctttcatcc	5	20	6	10	2	3	0	1	0	2	0	5	2	4	0	2	1	1	1	2	1	2	8			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:99364768C>T	ENST00000354593.2	-	3	437	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	CYP3A4_ENST00000336411.2_Missense_Mutation_p.E262K			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	262					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TGTGTATCTTCGAGGCGACTT	0.308													16	33					0	0	0	0	T	99364768	C	T	99364768	3	4	241	1	0	0	0	0	1	0	0	0	4210	893	31	1	751	1	CYP3A4	7	99364768	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	5308257	99364768	59773895	44	43623											
PTN	5764	broad.mit.edu	37	chr7	136938277	136938277	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcatggtttgcttgcactCagctccagtccgagtgccct	5	13	9	14	1	2	0	2	0	0	0	4	1	4	0	3	1	4	4	3	1	0	3			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:136938277C>G	ENST00000348225.2	-	3	650	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	PTN_ENST00000393083.2_Missense_Mutation_p.E75Q	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	75				E -> G (in Ref. 9; AAV38498).	nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.E75Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TGCTTGCACTCAGCTCCAGTC	0.537													11	53					0	0	0	0	G	136938277	C	G	136938277	3	3	241	1	0	0	0	0	1	0	0	0	12848	835	29	2	295	2	PTN	7	136938277	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	37573509	136938277	22200386	45	43624											
CSMD1	64478	broad.mit.edu	37	chr8	3611465	3611465	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttaccttggaactgagcGttaaatcctttgcgtcggtg	7	14	10	10	3	0	1	0	1	0	0	3	2	2	2	3	2	4	1	3	2	4	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr8:3611465G>A	ENST00000520002.1	-	6	1473	c.918C>T	c.(916-918)aaC>aaT	p.N306N	CSMD1_ENST00000602723.1_Silent_p.N306N|CSMD1_ENST00000602557.1_Silent_p.N306N|CSMD1_ENST00000400186.3_Silent_p.N306N|CSMD1_ENST00000542608.1_Silent_p.N306N|CSMD1_ENST00000539096.1_Silent_p.N306N|CSMD1_ENST00000537824.1_Silent_p.N306N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	306	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGAACTGAGCGTTAAATCCTT	0.418													19	8					0	0	0	0	A	3611465	G	A	3611465	2	1	241	1	0	0	0	0	0	0	0	1	3976	1136	40	1		1	CSMD1	8	3611465	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08		3611465	142752557	46	43625											
MTUS1	57509	broad.mit.edu	37	chr8	17611496	17611496	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctgattcgatttcacGgcagatgttgttcttggaac	7	16	9	9	2	3	2	1	1	2	1	5	4	4	3	1	2	1	3	1	2	1	6			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr8:17611496G>T	ENST00000381869.3	-	2	2294	c.1821C>A	c.(1819-1821)gcC>gcA	p.A607A	MTUS1_ENST00000519263.1_Silent_p.A607A|MTUS1_ENST00000381862.3_Silent_p.A607A|MTUS1_ENST00000262102.6_Silent_p.A607A	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	607						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		p.A607A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCGATTTCACGGCAGATGTTG	0.433													109	35					4.07119e-57	4.79573e-57	1	0	T	17611496	G	T	17611496	2	4	241	1	0	0	0	0	0	0	0	1	10035	1103	39	3		3	MTUS1	8	17611496	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08	14000031	17611496	128752526	47	43626											
ADCY8	114	broad.mit.edu	37	chr8	131880186	131880186	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacacttcatccctcatttGagaatactgtaattaaaaaa	17	12	4	8	0	2	1	2	1	0	1	3	3	3	1	1	0	2	1	1	0	7	5			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr8:131880186G>C	ENST00000286355.5	-	9	4208	c.2116C>G	c.(2116-2118)Caa>Gaa	p.Q706E	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	706					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCCCTCATTTGAGAATACTGT	0.358										HNSCC(32;0.087)			19	61					0	0	0	0	C	131880186	G	C	131880186	3	2	241	1	0	0	0	0	1	0	0	0	300	1299	45	2	1679	2	ADCY8	8	131880186	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	114268690	131880186	14483836	48	43627											
TG	7038	broad.mit.edu	37	chr8	133978854	133978854	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcaaccaggtcattgtCaatggaaatcaatcactatc	14	10	6	11	0	5	0	5	0	0	0	6	2	5	1	2	2	1	0	2	2	5	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr8:133978854C>A	ENST00000220616.4	+	30	5638	c.5598C>A	c.(5596-5598)gtC>gtA	p.V1866V	TG_ENST00000519543.1_Silent_p.V20V|TG_ENST00000542445.1_Silent_p.V236V|TG_ENST00000377869.1_Silent_p.V1809V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1866					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGTCATTGTCAATGGAAATC	0.453													47	96					3.21987e-24	3.72968e-24	1	0	A	133978854	C	A	133978854	2	1	241	1	0	0	0	0	0	0	0	1	15907	813	29	2		2	TG	8	133978854	Silent	SNP	C	TCGA-CV-5977-01A-11D-1683-08	2098668	133978854	12385168	49	43628											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	8	6	10	17	3	2	1	2	1	0	0	4	1	3	1	3	1	4	4	3	1	0	0	rs121913387		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	1					0	0	0	0	A	21971186	G	A	21971186	4	1	241	1	0	0	0	0	0	1	0	0	3190	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08		21971186	119242245	50	43629											
ZNF883	169834	broad.mit.edu	37	chr9	115760008	115760008	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttacactggtaggatttttCctcagaatgaattccctgat	10	15	7	9	0	1	3	1	2	0	1	3	4	3	4	2	2	1	1	2	2	4	5			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:115760008C>T	ENST00000427548.1	-	0	1805							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TAGGATTTTTCCTCAGAATGA	0.403													21	27					0	0	0	0	T	115760008	C	T	115760008	1	4	241	0	1	0	0	0	0	0	0	0	18291	864	30	2		2	ZNF883	9	115760008	RNA	SNP	C	TCGA-CV-5977-01A-11D-1683-08	93788822	115760008	25453423	51	43630											
RGS3	5998	broad.mit.edu	37	chr9	116267802	116267802	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtccaggccgtggattcCggtaagttattgacaggggg	8	9	16	8	3	0	1	0	1	0	0	2	3	2	2	3	5	0	2	3	5	2	4	rs142637936		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:116267802C>T	ENST00000374140.2	+	12	1187	c.979_splice	c.e12+1	p.S326_splice	RGS3_ENST00000350696.5_Splice_Site_p.S326_splice|RGS3_ENST00000343817.5_Splice_Site_p.S45_splice|RGS3_ENST00000317613.6_Splice_Site_p.S214_splice|RGS3_ENST00000394646.3_Splice_Site_p.S45_splice|RGS3_ENST00000374136.1_5'UTR	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	326	PDZ.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCGTGGATTCCGGTAAGTTAT	0.572													15	19					0	0	0	0	T	116267802	C	T	116267802	5	4	241	1	0	0	0	0	0	0	1	0	13389	666	23	1	1161	1	RGS3	9	116267802	Splice_Site	SNP	C	TCGA-CV-5977-01A-11D-1683-08	507794	116267802	24945629	52	43631											
GSN	2934	broad.mit.edu	37	chr9	124064328	124064328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgtggagaagttcgatCtggtgcccgtgcccaccaac	7	8	14	12	3	1	1	0	0	1	1	2	3	1	1	3	3	3	1	3	3	2	1			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:124064328C>A	ENST00000373823.3	+	10	984	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	GSN_ENST00000341272.2_Missense_Mutation_p.L27M|GSN_ENST00000436847.1_Missense_Mutation_p.L38M|GSN_ENST00000373818.4_Missense_Mutation_p.L78M|GSN_ENST00000412819.1_Missense_Mutation_p.L27M|GSN_ENST00000373808.2_Missense_Mutation_p.L27M|GSN_ENST00000394353.2_Missense_Mutation_p.L38M|GSN_ENST00000545652.1_Missense_Mutation_p.L35M|GSN_ENST00000449733.1_Missense_Mutation_p.L27M			P06396	GELS_HUMAN	gelsolin	78					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GAAGTTCGATCTGGTGCCCGT	0.572													29	112					9.39395e-14	1.07029e-13	1	0	A	124064328	C	A	124064328	3	1	241	1	0	0	0	0	1	0	0	0	6875	912	32	2	266	2	GSN	9	124064328	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	7796526	124064328	17149103	53	43632											
ADAMTS13	11093	broad.mit.edu	37	chr9	136307841	136307841	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgtggccagaggcctgCgtgctcgaaccctgccctcc	5	6	12	18	3	0	1	0	0	0	1	2	2	1	1	6	2	5	1	6	2	1	0			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:136307841C>T	ENST00000371929.3	+	18	2655	c.2211C>T	c.(2209-2211)tgC>tgT	p.C737C	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000355699.2_Silent_p.C737C|ADAMTS13_ENST00000356589.2_Silent_p.C706C	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	737					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CAGAGGCCTGCGTGCTCGAAC	0.657													38	31					0	0	0	0	T	136307841	C	T	136307841	2	4	241	1	0	0	0	0	0	0	0	1	258	776	27	1		1	ADAMTS13	9	136307841	Silent	SNP	C	TCGA-CV-5977-01A-11D-1683-08	12243513	136307841	4905590	54	43633											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714065	138714065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctctccgcaaagctggtCatcttcacgctcccactcgc	6	11	6	18	3	4	0	2	0	2	0	8	0	6	0	3	1	1	3	3	1	1	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:138714065C>G	ENST00000389532.4	-	11	2506	c.2442G>C	c.(2440-2442)atG>atC	p.M814I	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.M825I|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.M536I	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	814						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CAAAGCTGGTCATCTTCACGC	0.587													18	101					0	0	0	0	G	138714065	C	G	138714065	3	3	241	1	0	0	0	0	1	0	0	0	2636	826	29	2	2394	2	CAMSAP1	9	138714065	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	2406224	138714065	2499366	55	43634											
SFMBT2	57713	broad.mit.edu	37	chr10	7205769	7205769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtagaaagccactttgactCtctcgatctggtggcataac	10	11	9	11	2	2	2	0	1	2	1	4	3	2	2	1	2	2	2	1	2	3	3			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:7205769C>G	ENST00000361972.4	-	21	2738	c.2648G>C	c.(2647-2649)aGa>aCa	p.R883T	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R883T	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	883	SAM.				regulation of transcription, DNA-dependent	nucleus		p.R883T(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CACTTTGACTCTCTCGATCTG	0.567													8	23					0	0	0	0	G	7205769	C	G	7205769	3	3	241	1	0	0	0	0	1	0	0	0	14245	913	32	2	40	2	SFMBT2	10	7205769	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08		7205769	128328978	56	43635											
CELF2	10659	broad.mit.edu	37	chr10	11308601	11308601	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctacaagggcaatggcacaGaatgcaatcaaagccatgca	16	6	9	10	0	2	1	1	0	1	1	2	1	2	1	1	2	4	4	1	2	6	1			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:11308601G>A	ENST00000379261.4	+	6	650	c.558G>A	c.(556-558)caG>caA	p.Q186Q	CELF2_ENST00000399850.3_Silent_p.Q162Q|CELF2_ENST00000450189.1_Silent_p.Q193Q|CELF2_ENST00000416382.2_Silent_p.Q186Q|CELF2_ENST00000354440.2_Silent_p.Q162Q|CELF2_ENST00000354897.3_Silent_p.Q162Q|CELF2_ENST00000537122.1_Silent_p.Q75Q|CELF2_ENST00000315874.3_Silent_p.Q162Q|CELF2_ENST00000417956.2_Silent_p.Q162Q|CELF2_ENST00000542579.1_Silent_p.Q193Q|CELF2_ENST00000427450.1_Silent_p.Q162Q	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	186	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CAATGGCACAGAATGCAATCA	0.448													11	20					0	0	0	0	A	11308601	G	A	11308601	2	1	241	1	0	0	0	0	0	0	0	1	3245	933	33	2		2	CELF2	10	11308601	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08	4102832	11308601	124226146	57	43636											
CUBN	8029	broad.mit.edu	37	chr10	16962010	16962010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcaaattgcagctgtatgCgtgtttccggtggagccgct	6	13	12	10	3	1	0	1	0	0	0	2	1	2	1	2	2	4	5	2	2	2	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:16962010C>T	ENST00000377833.4	-	44	6838	c.6773G>A	c.(6772-6774)cGc>cAc	p.R2258H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2258	CUB 16.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.R2258H(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGCTGTATGCGTGTTTCCGG	0.438													8	26					0	0	0	0	T	16962010	C	T	16962010	3	4	241	1	0	0	0	0	1	0	0	0	4083	768	27	1	4194	1	CUBN	10	16962010	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	5653409	16962010	118572737	58	43637											
ZNF33A	7581	broad.mit.edu	37	chr10	38299706	38299706	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatgcaacccgacgagggAgtggggtaagccccagtggg	10	4	17	10	3	0	0	0	0	0	0	0	4	0	1	3	4	3	2	3	4	3	1			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:38299706A>T	ENST00000432900.2	+	1	124	c.25A>T	c.(25-27)Agt>Tgt	p.S9C	ZNF33A_ENST00000374618.3_5'UTR|ZNF33A_ENST00000458705.2_5'UTR|ZNF33A_ENST00000469037.2_5'UTR|ZNF33A_ENST00000476504.1_3'UTR			Q06730	ZN33A_HUMAN	zinc finger protein 33A	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CCGACGAGGGAGTGGGGTAAG	0.642													5	27					0	0	0	0	T	38299706	A	T	38299706	3	4	241	1	0	0	0	0	1	0	0	0	17949	319	11	5		5	ZNF33A	10	38299706	Missense_Mutation	SNP	A	TCGA-CV-5977-01A-11D-1683-08	21337696	38299706	97235041	59	43638											
ZNF488	118738	broad.mit.edu	37	chr10	48370659	48370659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcgaacctgagctgggcCggggctgcaagccagtgctg	7	7	16	11	2	0	1	0	1	0	0	0	2	0	1	3	3	6	4	3	3	3	1	rs149252316		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:48370659C>T	ENST00000395702.2	+	2	354	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ZNF488_ENST00000494156.1_Missense_Mutation_p.R43W|ZNF488_ENST00000586537.1_5'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TGAGCTGGGCCGGGGCTGCAA	0.677													13	64					0	0	0	0	T	48370659	C	T	48370659	3	4	241	1	0	0	0	0	1	0	0	0	18035	643	23	1	129	1	ZNF488	10	48370659	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	10070953	48370659	87164088	60	43639											
PCDH15	65217	broad.mit.edu	37	chr10	55582486	55582486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtggagaatgagaagtgaGgcctgggaaagcaaaatgaa	18	5	15	3	0	0	4	0	3	0	2	0	7	0	5	1	3	1	1	1	3	7	0			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:55582486G>T	ENST00000361849.3	-	34	5400	c.5006C>A	c.(5005-5007)cCt>cAt	p.P1669H	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1664H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1627H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1667H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1644H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1598H|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1667					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P1674H(1)|p.P1667H(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAGAAGTGAGGCCTGGGAAA	0.418										HNSCC(58;0.16)			37	38					7.83172e-31	9.14797e-31	1	0	T	55582486	G	T	55582486	3	4	241	1	0	0	0	0	1	0	0	0	11582	1000	35	4	2477	4	PCDH15	10	55582486	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	7211827	55582486	79952261	61	43640											
RHOBTB1	9886	broad.mit.edu	37	chr10	62632017	62632017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcagatgtggtgcaaaCaccaggcggccaactggtgg	9	7	16	9	1	0	1	0	0	0	1	0	1	0	1	2	6	4	2	2	6	2	0			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:62632017C>T	ENST00000337910.5	-	10	2184	c.1847G>A	c.(1846-1848)tGt>tAt	p.C616Y	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.C616Y	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	616					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GTGGTGCAAACACCAGGCGGC	0.468													11	53					0	0	0	0	T	62632017	C	T	62632017	3	4	241	1	0	0	0	0	1	0	0	0	13416	478	17	4	251	4	RHOBTB1	10	62632017	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	7049531	62632017	72902730	62	43641											
CYP2C19	1557	broad.mit.edu	37	chr10	96580294	96580294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaattcactattgaaaacttGgtaatcactgcagctgactt	13	13	7	8	0	2	2	2	2	0	0	2	3	2	2	0	1	3	3	0	1	5	6			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:96580294G>T	ENST00000371321.3	+	6	943	c.861G>T	c.(859-861)ttG>ttT	p.L287F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	287					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTGAAAACTTGGTAATCACTG	0.413													12	56					6.40141e-05	6.84459e-05	1	0	T	96580294	G	T	96580294	3	4	241	1	0	0	0	0	1	0	0	0	4198	1339	47	4	883	4	CYP2C19	10	96580294	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	33948277	96580294	38954453	63	43642											
FGFR2	2263	broad.mit.edu	37	chr10	123274743	123274743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaggatgactgttaccAccatacaggcgattaagaag	14	7	11	9	1	0	2	0	1	0	1	0	4	0	3	2	3	2	2	2	3	4	3			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:123274743A>G	ENST00000358487.5	-	9	1447	c.1175T>C	c.(1174-1176)gTg>gCg	p.V392A	FGFR2_ENST00000457416.2_Missense_Mutation_p.V393A|FGFR2_ENST00000360144.3_Missense_Mutation_p.V304A|FGFR2_ENST00000351936.6_Missense_Mutation_p.V392A|FGFR2_ENST00000346997.2_Missense_Mutation_p.V392A|FGFR2_ENST00000478859.1_Missense_Mutation_p.V164A|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000356226.4_Missense_Mutation_p.V277A|FGFR2_ENST00000369056.1_Missense_Mutation_p.V393A|FGFR2_ENST00000369059.1_Missense_Mutation_p.V278A|FGFR2_ENST00000357555.5_Missense_Mutation_p.V303A|FGFR2_ENST00000369061.4_Missense_Mutation_p.V280A	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	392					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.V392A(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GACTGTTACCACCATACAGGC	0.522		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				29	37					0	0	0	0	G	123274743	A	G	123274743	3	3	241	1	0	0	0	0	1	0	0	0	5911	159	6	5	1434	5	FGFR2	10	123274743	Missense_Mutation	SNP	A	TCGA-CV-5977-01A-11D-1683-08	26694449	123274743	12260004	64	43643											
DCHS1	8642	broad.mit.edu	37	chr11	6648366	6648366	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcctgggcggggcagAcgtaggcgcagaggactggt	6	5	21	9	3	0	2	0	0	0	2	0	3	0	3	1	8	0	3	1	8	1	1			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr11:6648366A>G	ENST00000299441.3	-	14	6315	c.5904T>C	c.(5902-5904)cgT>cgC	p.R1968R		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1968	Cadherin 19.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCGGGGCAGACGTAGGCGCA	0.612													23	53					0	0	0	0	G	6648366	A	G	6648366	2	3	241	1	0	0	0	0	0	0	0	1	4319	262	10	5		5	DCHS1	11	6648366	Silent	SNP	A	TCGA-CV-5977-01A-11D-1683-08		6648366	128358150	65	43644											
OR4C11	219429	broad.mit.edu	37	chr11	55371152	55371152	+	Frame_Shift_Del	DEL	T	T	-																															acgtgcaagcggagagagccTttttcttccctttggcactg																										TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr11:55371152delT	ENST00000302231.4	-	1	722	c.698delA	c.(697-699)agfs	p.K233fs		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGAGAGAGCCTTTTTCTTCCC	0.418													47	7	---	---	---	---					-	55371152	T	-	55371152	7	5	241	1	0	1	0	1	0	0	0	0	11116	1609	56	0	236	0	OR4C11	11	55371152	Frame_Shift_Del	DEL	T	TCGA-CV-5977-01A-11D-1683-08	48722786	55371152	79635364	66	43645											
CPT1A	1374	broad.mit.edu	37	chr11	68566776	68566776	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttgagcaagtgctgtcatCcgtttgaagtcttcttcctt	6	17	8	10	1	4	2	1	2	3	0	6	2	6	2	2	0	2	3	2	0	2	5	rs143731699		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr11:68566776C>T	ENST00000265641.5	-	6	757	c.603G>A	c.(601-603)cgG>cgA	p.R201R	CPT1A_ENST00000376618.2_Silent_p.R201R|CPT1A_ENST00000540367.1_Silent_p.R201R|CPT1A_ENST00000539743.1_Silent_p.R201R	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	201					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GTGCTGTCATCCGTTTGAAGT	0.393													86	137					0	0	0	0	T	68566776	C	T	68566776	2	4	241	1	0	0	0	0	0	0	0	1	3861	842	30	2		2	CPT1A	11	68566776	Silent	SNP	C	TCGA-CV-5977-01A-11D-1683-08	13195624	68566776	66439740	67	43646											
ATN1	1822	broad.mit.edu	37	chr12	7046142	7046142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctccagtctcttcctCttccaactcttcctcttcca	4	15	3	19	0	4	0	0	0	4	0	10	0	9	0	6	1	1	0	6	1	1	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr12:7046142C>A	ENST00000356654.4	+	5	1949	c.1712C>A	c.(1711-1713)tCt>tAt	p.S571Y	ATN1_ENST00000396684.2_Missense_Mutation_p.S571Y	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	571	Poly-Ser.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTCTCTTCCTCTTCCAACTCT	0.632													15	80					1.15088e-07	1.26962e-07	1	0	A	7046142	C	A	7046142	3	1	241	1	0	0	0	0	1	0	0	0	1115	913	32	2	1726	2	ATN1	12	7046142	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08		7046142	126805753	68	43647											
GYS2	2998	broad.mit.edu	37	chr12	21692267	21692267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcaggtgtctggcatgctgGtaatactattgatagaaagc	11	12	12	6	0	2	2	1	1	1	1	2	2	2	2	0	3	3	3	0	3	5	5			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr12:21692267G>A	ENST00000261195.2	-	15	2069	c.1815C>T	c.(1813-1815)taC>taT	p.Y605Y		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	605					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGGCATGCTGGTAATACTATT	0.328													49	94					0	0	0	0	A	21692267	G	A	21692267	2	1	241	1	0	0	0	0	0	0	0	1	6963	1256	44	4		4	GYS2	12	21692267	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08	14646125	21692267	112159628	69	43648											
OSBPL8	114882	broad.mit.edu	37	chr12	76767187	76767187	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtttccctgatatttgattAacacagtcactactccctag	11	14	5	11	0	1	2	1	2	0	0	3	2	3	2	2	0	2	1	2	0	4	6			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr12:76767187A>G	ENST00000261183.3	-	18	2333	c.1854T>C	c.(1852-1854)gtT>gtC	p.V618V	OSBPL8_ENST00000393249.2_Silent_p.V576V|OSBPL8_ENST00000393250.4_Silent_p.V576V	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	618					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ATATTTGATTAACACAGTCAC	0.294													3	65					0	0	0	0	G	76767187	A	G	76767187	2	3	241	1	0	0	0	0	0	0	0	1	11354	349	13	5		5	OSBPL8	12	76767187	Silent	SNP	A	TCGA-CV-5977-01A-11D-1683-08	55074920	76767187	57084708	70	43649											
ZC3H13	23091	broad.mit.edu	37	chr13	46543408	46543408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaggagaaggggtactacCaggagtcgtggcggtggcag	10	6	19	6	2	0	2	0	0	0	2	1	4	0	3	1	7	2	2	1	7	4	3			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr13:46543408C>T	ENST00000242848.4	-	14	3619	c.3271G>A	c.(3271-3273)Ggt>Agt	p.G1091S	ZC3H13_ENST00000378921.2_Missense_Mutation_p.G47S|ZC3H13_ENST00000282007.3_Missense_Mutation_p.G1091S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1091							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GGGGTACTACCAGGAGTCGTG	0.532													11	40					0	0	0	0	T	46543408	C	T	46543408	3	4	241	1	0	0	0	0	1	0	0	0	17660	594	21	4	1439	4	ZC3H13	13	46543408	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08		46543408	68626470	71	43650											
SUCLA2	8803	broad.mit.edu	37	chr13	48528631	48528631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccagtcctgtagatcaaaGattttcttttggcgataggc	9	14	10	8	1	2	2	1	0	1	2	4	3	4	2	2	2	0	1	2	2	3	6			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr13:48528631G>C	ENST00000378654.3	-	7	920	c.864C>G	c.(862-864)atC>atG	p.I288M	SUCLA2_ENST00000543413.1_Missense_Mutation_p.I230M|SUCLA2_ENST00000544100.1_Missense_Mutation_p.I154M|SUCLA2_ENST00000534875.1_Missense_Mutation_p.I230M	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	288	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	GTAGATCAAAGATTTTCTTTT	0.393													13	42					0	0	0	0	C	48528631	G	C	48528631	3	2	241	1	0	0	0	0	1	0	0	0	15453	932	33	2	547	2	SUCLA2	13	48528631	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	1985223	48528631	66641247	72	43651											
SLITRK1	114798	broad.mit.edu	37	chr13	84453707	84453707	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctcttggaccgctttcGgttcctcaggataaacacga	8	12	9	12	4	2	0	1	0	1	0	6	3	3	2	2	3	1	2	2	3	2	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr13:84453707G>A	ENST00000377084.2	-	1	2821	c.1936C>T	c.(1936-1938)Cga>Tga	p.R646*		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	646						integral to membrane		p.R646*(1)|p.R646R(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GACCGCTTTCGGTTCCTCAGG	0.562													10	15					0	0	0	0	A	84453707	G	A	84453707	4	1	241	1	0	0	0	0	0	1	0	0	14830	1124	39	1	158	1	SLITRK1	13	84453707	Nonsense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	35925076	84453707	30716171	73	43652											
RNASE11	122651	broad.mit.edu	37	chr14	21058491	21058491	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaagtcatcacaagtgacaAgaacaaacccctctgtgggg	14	7	9	11	0	4	2	3	1	1	1	4	2	4	2	2	2	2	0	2	2	5	0			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr14:21058491A>T	ENST00000335950.4	-	0	205				RP11-14J7.6_ENST00000556487.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000554529.1_RNA|RNASE12_ENST00000556526.1_Missense_Mutation_p.L131H|AL163195.3_ENST00000555283.1_RNA	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)							extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.L131H(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		ACAAGTGACAAGAACAAACCC	0.463													41	57					0	0	0	0	T	21058491	A	T	21058491	1	4	241	1	0	0	0	0	0	0	0	0	13486	72	3	5		5	RNASE11	14	21058491	Translation_Start_Site	SNP	A	TCGA-CV-5977-01A-11D-1683-08		21058491	86291049	74	43653											
YY1	7528	broad.mit.edu	37	chr14	100705745	100705749	+	Frame_Shift_Del	DEL	GCGGT	GCGGT	-																															cgacgacgacgaggacggcgGcggtggcgaccacggcggcg																										TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr14:100705745_100705749delGCGGT	ENST00000262238.4	+	1	424_428	c.164_168delGCGGT	c.(163-168)gfs	p.GG55fs		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	55	Gly-rich.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				gaggacggcggcggtggcgaccacg	0.712													10	12	---	---	---	---					-	100705749	GCGGT	-	100705745	7	5	241	1	0	1	0	1	0	0	0	0	17603	1203	42	0	166	0	YY1	14	100705745	Frame_Shift_Del	DEL	GCGGT	TCGA-CV-5977-01A-11D-1683-08	79647254	100705745	6643795	75	43654											
ACTC1	70	broad.mit.edu	37	chr15	35084363	35084363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatagtgatgacttggccatCaggcagttcatagctcttct	10	13	9	9	0	4	2	2	2	2	0	4	2	4	2	1	2	1	3	1	2	3	5			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr15:35084363C>T	ENST00000290378.4	-	5	1391	c.736G>A	c.(736-738)Gat>Aat	p.D246N	ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	246					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	p.D246N(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ACTTGGCCATCAGGCAGTTCA	0.522													6	34					0	0	0	0	T	35084363	C	T	35084363	3	4	241	1	0	0	0	0	1	0	0	0	195	826	29	2	409	2	ACTC1	15	35084363	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08		35084363	67447029	76	43655											
CAPN3	825	broad.mit.edu	37	chr15	42652149	42652149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctattcagccatcatcagccGcaattttcctattatcggag	10	13	6	12	2	3	0	3	0	0	0	5	1	4	1	3	1	2	1	3	1	4	6			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr15:42652149G>A	ENST00000397163.3	+	1	365	c.146G>A	c.(145-147)cGc>cAc	p.R49H	CAPN3_ENST00000318023.7_Missense_Mutation_p.R49H|CAPN3_ENST00000356316.3_Intron|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.R49H|CAPN3_ENST00000357568.3_Missense_Mutation_p.R49H	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	49					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATCATCAGCCGCAATTTTCCT	0.527													4	156					0	0	0	0	A	42652149	G	A	42652149	3	1	241	1	0	0	0	0	1	0	0	0	2653	1087	38	1	200	1	CAPN3	15	42652149	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	7567786	42652149	59879243	77	43656											
WDR72	256764	broad.mit.edu	37	chr15	53815478	53815478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccacgtcttggaagtttgCcgagtttgagttgctgtcat	6	15	11	9	2	2	1	1	1	1	0	3	3	3	2	2	1	2	4	2	1	1	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr15:53815478C>T	ENST00000396328.1	-	19	3429	c.3190G>A	c.(3190-3192)Gca>Aca	p.A1064T	WDR72_ENST00000559418.1_Missense_Mutation_p.A1074T|WDR72_ENST00000360509.5_Missense_Mutation_p.A1064T|WDR72_ENST00000557913.1_Missense_Mutation_p.A1061T|WDR72_ENST00000567224.1_5'UTR	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1064										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGGAAGTTTGCCGAGTTTGAG	0.443													4	125					0	0	0	0	T	53815478	C	T	53815478	3	4	241	1	0	0	0	0	1	0	0	0	17418	739	26	4	126	4	WDR72	15	53815478	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	11163329	53815478	48715914	78	43657											
WDR72	256764	broad.mit.edu	37	chr15	53907993	53907993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctttatccactccccatgGcaaaaggcaagacagaaaca	16	7	6	12	0	1	2	0	0	1	2	3	2	3	2	3	2	1	2	3	2	5	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr15:53907993G>A	ENST00000396328.1	-	15	2649	c.2410C>T	c.(2410-2412)Cca>Tca	p.P804S	WDR72_ENST00000559418.1_Missense_Mutation_p.P814S|WDR72_ENST00000360509.5_Missense_Mutation_p.P804S|WDR72_ENST00000557913.1_Missense_Mutation_p.P801S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	804										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACTCCCCATGGCAAAAGGCAA	0.363													4	181					0	0	0	0	A	53907993	G	A	53907993	3	1	241	1	0	0	0	0	1	0	0	0	17418	1203	42	4	922	4	WDR72	15	53907993	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	92515	53907993	48623399	79	43658											
CYP11A1	1583	broad.mit.edu	37	chr15	74630346	74630346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttcctggttaaagggccaGaaggtgaaggagatgggctt	10	9	16	6	0	0	3	0	1	0	2	1	4	1	3	2	5	0	3	2	5	4	3			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr15:74630346G>A	ENST00000358632.4	-	9	1754	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	CYP11A1_ENST00000419019.2_Silent_p.F353F|CYP11A1_ENST00000268053.6_Silent_p.F511F	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	511			R -> W (in AICSR; loss of activity).		C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TAAAGGGCCAGAAGGTGAAGG	0.552													13	33					0	0	0	0	A	74630346	G	A	74630346	2	1	241	1	0	0	0	0	0	0	0	1	4176	933	33	2		2	CYP11A1	15	74630346	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08	20722353	74630346	27901046	80	43659											
MPG	4350	broad.mit.edu	37	chr16	129429	129429	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttttcccattacagttttgCcgacggatggggcaaaagaa	11	12	10	8	2	0	1	0	0	0	1	1	3	1	2	2	3	2	2	2	3	4	5			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:129429C>T	ENST00000219431.4	+	3	276	c.45C>T	c.(43-45)tgC>tgT	p.C15C	MPG_ENST00000475280.1_3'UTR|MPG_ENST00000397817.1_5'UTR	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	15					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TACAGTTTTGCCGACGGATGG	0.547								Base excision repair (BER), DNA glycosylases					3	49					0	0	0	0	T	129429	C	T	129429	2	4	241	1	0	0	0	0	0	0	0	1	9794	747	26	4		4	MPG	16	129429	Silent	SNP	C	TCGA-CV-5977-01A-11D-1683-08		129429	90225324	81	43660											
HN1L	90861	broad.mit.edu	37	chr16	1747824	1747824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttgcaggatcatgttttCttatgtgaaggagaagaacc	11	14	11	5	0	2	3	1	1	1	2	2	5	2	4	1	2	2	3	1	2	4	5			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:1747824C>G	ENST00000248098.3	+	4	405	c.348C>G	c.(346-348)ttC>ttG	p.F116L	HN1L_ENST00000382710.4_Missense_Mutation_p.F104L|HN1L_ENST00000562684.1_Missense_Mutation_p.F144L|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000561516.1_Missense_Mutation_p.L69V|HN1L_ENST00000569765.1_Missense_Mutation_p.L97V|HN1L_ENST00000382711.5_Missense_Mutation_p.F100L	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	116						cytoplasm|nucleus		p.F116L(1)		endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						ATCATGTTTTCTTATGTGAAG	0.393													28	80					0	0	0	0	G	1747824	C	G	1747824	3	3	241	1	0	0	0	0	1	0	0	0	7300	912	32	2	362	2	HN1L	16	1747824	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	1618395	1747824	88606929	82	43661											
ALG1	56052	broad.mit.edu	37	chr16	5123195	5123195	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggagtcaaagttgtacttCaggctatgtacttgctgtgg	9	13	12	7	1	2	0	2	0	0	0	2	1	2	1	0	3	3	5	0	3	4	6			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:5123195C>G	ENST00000262374.5	+	3	359	c.328C>G	c.(328-330)Cag>Gag	p.Q110E	ALG1_ENST00000544428.1_5'UTR|ALG1_ENST00000588623.1_5'UTR	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	110					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	p.Q110E(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				AGTTGTACTTCAGGCTATGTA	0.517													9	38					0	0	0	0	G	5123195	C	G	5123195	3	3	241	1	0	0	0	0	1	0	0	0	510	827	29	2	338	2	ALG1	16	5123195	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	3375371	5123195	85231558	83	43662											
GRIN2A	2903	broad.mit.edu	37	chr16	10273897	10273897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcccccatgaatgcccaaGatggggacgaaggtgtggga	10	5	16	10	2	0	2	0	1	0	1	0	5	0	4	3	4	1	0	3	4	3	0			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:10273897G>A	ENST00000396573.2	-	3	681	c.372C>T	c.(370-372)atC>atT	p.I124I	GRIN2A_ENST00000404927.2_Silent_p.I124I|GRIN2A_ENST00000396575.2_Silent_p.I124I|GRIN2A_ENST00000330684.3_Silent_p.I124I|GRIN2A_ENST00000562109.1_Silent_p.I124I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	124					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.L125fs*9(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAATGCCCAAGATGGGGACGA	0.612													12	27					0	0	0	0	A	10273897	G	A	10273897	2	1	241	1	0	0	0	0	0	0	0	1	6829	932	33	2		2	GRIN2A	16	10273897	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08	5150702	10273897	80080856	84	43663											
LOC81691	81691	broad.mit.edu	37	chr16	20856517	20856517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaatcaacaaggctccCagggcttcgtgttgtacctc	9	10	9	13	1	1	1	1	1	0	0	4	1	2	1	3	2	2	4	3	2	4	3			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:20856517C>T	ENST00000261377.6	+	18	2287	c.2078C>T	c.(2077-2079)cCa>cTa	p.P693L	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.P693L|AC004381.6_ENST00000348433.6_Missense_Mutation_p.P662L	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					ACAAGGCTCCCAGGGCTTCGT	0.577													4	13					0	0	0	0	T	20856517	C	T	20856517	3	4	241	1	0	0	0	0	1	0	0	0	8954	594	21	4	2144	4	LOC81691	16	20856517	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	10582620	20856517	69498236	85	43664											
CDH16	1014	broad.mit.edu	37	chr16	66950205	66950205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtactctgcctgctcctctCggtccagggccctggtcacc	3	10	11	17	1	3	0	1	0	2	0	6	0	5	0	5	4	3	2	5	4	1	1			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:66950205C>T	ENST00000299752.4	-	4	450	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	CDH16_ENST00000565796.1_Missense_Mutation_p.R86Q|CDH16_ENST00000568632.1_Missense_Mutation_p.R86Q|CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.R86Q	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	86	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R86Q(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CTGCTCCTCTCGGTCCAGGGC	0.622													18	31					0	0	0	0	T	66950205	C	T	66950205	3	4	241	1	0	0	0	0	1	0	0	0	3130	884	31	1	2292	1	CDH16	16	66950205	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	46093688	66950205	23404548	86	43665											
SF3B3	23450	broad.mit.edu	37	chr16	70575707	70575707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgctggttgatgagttGgacagcctctctcccattct	5	15	10	11	0	2	2	0	2	2	0	4	3	3	3	2	2	2	3	2	2	0	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:70575707G>A	ENST00000302516.5	+	9	1414	c.1203G>A	c.(1201-1203)ttG>ttA	p.L401L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	401					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TTGATGAGTTGGACAGCCTCT	0.448													4	188					0	0	0	0	A	70575707	G	A	70575707	2	1	241	1	0	0	0	0	0	0	0	1	14239	1339	47	4		4	SF3B3	16	70575707	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08	3625502	70575707	19779046	87	43666											
CHST6	4166	broad.mit.edu	37	chr16	75513510	75513510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtccacacgtgccacgCgggctccattaggtagaaga	9	7	14	11	3	0	2	0	0	0	2	2	2	2	2	3	4	1	2	3	4	3	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:75513510C>T	ENST00000332272.4	-	3	396	c.217G>A	c.(217-219)Gcg>Acg	p.A73T	CHST6_ENST00000390664.2_Missense_Mutation_p.A73T|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	73					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACGTGCCACGCGGGCTCCATT	0.662													12	19					0	0	0	0	T	75513510	C	T	75513510	3	4	241	1	0	0	0	0	1	0	0	0	3437	768	27	1	974	1	CHST6	16	75513510	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	4937803	75513510	14841243	88	43667											
NLGN2	57555	broad.mit.edu	37	chr17	7319416	7319416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctactggaccaacttcGccaagactgggtgagggcca	10	7	12	12	1	0	3	0	2	0	1	1	4	0	4	4	3	2	0	4	3	3	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:7319416G>A	ENST00000302926.2	+	6	1697	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	NLGN2_ENST00000575301.1_Missense_Mutation_p.A542T	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	542					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GACCAACTTCGCCAAGACTGG	0.632													12	25					0	0	0	0	A	7319416	G	A	7319416	3	1	241	1	0	0	0	0	1	0	0	0	10532	1087	38	1	1646	1	NLGN2	17	7319416	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08		7319416	73875794	89	43668											
TP53	7157	broad.mit.edu	37	chr17	7576853	7576853	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcccaagacttagtacCtgaagggtgaaatattctcc	12	10	10	9	0	1	3	0	2	1	1	3	4	2	3	3	2	1	1	3	2	6	4	rs11575996		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:7576853C>T	ENST00000420246.2	-	9	1125	c.993_splice	c.e9+1	p.Q331_splice	TP53_ENST00000269305.4_Splice_Site_p.Q331_splice|TP53_ENST00000359597.4_Splice_Site_p.Q331_splice|TP53_ENST00000445888.2_Splice_Site_p.Q331_splice|TP53_ENST00000455263.2_Splice_Site_p.Q331_splice|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACTTAGTACCTGAAGGGTGA	0.453		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	41					0	0	0	0	T	7576853	C	T	7576853	5	4	241	1	0	0	0	0	0	0	1	0	16476	695	24	4	289	4	TP53	17	7576853	Splice_Site	SNP	C	TCGA-CV-5977-01A-11D-1683-08	257437	7576853	73618357	90	43669											
TP53	7157	broad.mit.edu	37	chr17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttcttgcggagattctcttCctctgtgcgccggtctctcc	2	16	9	14	3	4	1	0	0	4	1	8	2	6	1	3	2	2	0	3	2	0	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:7577082C>T	ENST00000420246.2	-	8	988	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TP53_ENST00000269305.4_Missense_Mutation_p.E286K|TP53_ENST00000359597.4_Missense_Mutation_p.E286K|TP53_ENST00000445888.2_Missense_Mutation_p.E286K|TP53_ENST00000455263.2_Missense_Mutation_p.E286K|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTCTCTTCCTCTGTGCGC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	20					0	0	0	0	T	7577082	C	T	7577082	3	4	241	1	0	0	0	0	1	0	0	0	16476	864	30	2	430	2	TP53	17	7577082	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	229	7577082	73618128	91	43670											
SEZ6	124925	broad.mit.edu	37	chr17	27287979	27287979	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggtggcattgcggatcactCcgccgcaagcagctgttaag	8	9	13	11	3	1	0	1	0	0	0	2	1	2	1	2	3	3	5	2	3	2	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:27287979C>G	ENST00000317338.12	-	6	1681	c.1253G>C	c.(1252-1254)gGa>gCa	p.G418A	SEZ6_ENST00000335960.6_Missense_Mutation_p.G418A|SEZ6_ENST00000360295.9_Missense_Mutation_p.G418A|SEZ6_ENST00000442608.3_Missense_Mutation_p.G418A|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	418	CUB 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCGGATCACTCCGCCGCAAGC	0.607													23	113					0	0	0	0	G	27287979	C	G	27287979	3	3	241	1	0	0	0	0	1	0	0	0	14229	855	30	2	1792	2	SEZ6	17	27287979	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	19710897	27287979	53907231	92	43671											
GAS2L2	246176	broad.mit.edu	37	chr17	34079822	34079822	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggatactgcacacaggCggccctagggtcctgggctt	6	7	15	13	2	0	0	0	0	0	0	1	1	1	1	3	6	2	2	3	6	2	3	rs147495893	by1000genomes	TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:34079822C>A	ENST00000254466.6	-	1	75	c.48G>T	c.(46-48)ccG>ccT	p.P16P	GAS2L2_ENST00000587565.1_Silent_p.P16P	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	16					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCACACAGGCGGCCCTAGGG	0.657													16	51					9.16793e-09	1.0277e-08	1	0	A	34079822	C	A	34079822	2	1	241	1	0	0	0	0	0	0	0	1	6296	755	27	3		3	GAS2L2	17	34079822	Silent	SNP	C	TCGA-CV-5977-01A-11D-1683-08	6791843	34079822	47115388	93	43672											
G6PC3	92579	broad.mit.edu	37	chr17	42148497	42148497	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcccgccgtgtgggcaTcgcggtgctctggatcagcc	3	8	14	16	5	2	0	1	0	1	0	4	1	3	1	4	3	2	2	4	3	0	0			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:42148497T>C	ENST00000269097.4	+	1	395	c.164T>C	c.(163-165)aTc>aCc	p.I55T		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	55					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CGTGTGGGCATCGCGGTGCTC	0.612													10	26					0	0	0	0	C	42148497	T	C	42148497	3	2	241	1	0	0	0	0	1	0	0	0	6193	1435	50	5	166	5	G6PC3	17	42148497	Missense_Mutation	SNP	T	TCGA-CV-5977-01A-11D-1683-08	8068675	42148497	39046713	94	43673											
SLC25A39	51629	broad.mit.edu	37	chr17	42397759	42397759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctcccagagcgacctggcGttgggtctttaccacgtcaa	7	9	11	14	4	2	1	1	0	1	1	3	2	3	1	3	2	2	2	3	2	2	3			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:42397759G>A	ENST00000225308.8	-	10	997	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	SLC25A39_ENST00000377095.5_Missense_Mutation_p.R283C|SLC25A39_ENST00000537904.2_Missense_Mutation_p.R260C|SLC25A39_ENST00000590194.1_Missense_Mutation_p.R275C|SLC25A39_ENST00000586016.1_Missense_Mutation_p.R151C	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	283					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		p.R275C(1)		endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGACCTGGCGTTGGGTCTTT	0.652													29	21					0	0	0	0	A	42397759	G	A	42397759	3	1	241	1	0	0	0	0	1	0	0	0	14591	1145	40	1	244	1	SLC25A39	17	42397759	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	249262	42397759	38797451	95	43674											
BAHCC1	57597	broad.mit.edu	37	chr17	79409052	79409052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtgggcaaagagctgggcaGagagaaggcgggcaaggccg	11	2	20	8	3	0	3	0	0	0	3	0	4	0	3	1	5	1	4	1	5	3	0			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:79409052G>A	ENST00000307745.7	+	9	677	c.677G>A	c.(676-678)aGa>aAa	p.R226K																								GAGCTGGGCAGAGAGAAGGCG	0.692													6	22					0	0	0	0	A	79409052	G	A	79409052	3	1	241	1	0	0	0	0	1	0	0	0	1300	942	33	2	526	2	BAHCC1	17	79409052	Missense_Mutation	SNP	G	TCGA-CV-5977-01A-11D-1683-08	37011293	79409052	1786158	96	43675											
LAMA1	284217	broad.mit.edu	37	chr18	7044739	7044739	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcacatgtattgccggAggacacggttcccggcctcc	7	9	10	15	3	1	0	1	0	0	0	3	2	3	2	5	4	1	2	5	4	1	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr18:7044739A>G	ENST00000389658.3	-	7	1051	c.958T>C	c.(958-960)Tcc>Ccc	p.S320P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	320	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTATTGCCGGAGGACACGGTT	0.468													22	120					0	0	0	0	G	7044739	A	G	7044739	3	3	241	1	0	0	0	0	1	0	0	0	8658	304	11	5	8497	5	LAMA1	18	7044739	Missense_Mutation	SNP	A	TCGA-CV-5977-01A-11D-1683-08		7044739	71032509	97	43676											
DPP9	91039	broad.mit.edu	37	chr19	4679886	4679886	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgctcggatcagttgggaGacgaggaagtttgtgtggaa	9	10	16	6	2	1	1	1	0	0	1	2	6	1	4	1	4	1	3	1	4	2	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:4679886G>A	ENST00000262960.9	-	21	2824	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V	DPP9_ENST00000594671.1_Silent_p.V820V|DPP9_ENST00000598800.1_Silent_p.V820V|AC005594.3_ENST00000381796.1_RNA	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	820					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TCAGTTGGGAGACGAGGAAGT	0.602													3	11					0	0	0	0	A	4679886	G	A	4679886	2	1	241	1	0	0	0	0	0	0	0	1	4769	929	33	2		2	DPP9	19	4679886	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08		4679886	54449097	98	43677											
ZNRF4	148066	broad.mit.edu	37	chr19	5455843	5455843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgagctcggtggactttgCggatctgccggcgctgttcg	3	11	15	12	6	1	0	0	0	1	0	4	3	1	2	1	4	3	3	1	4	0	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:5455843C>T	ENST00000222033.4	+	1	418	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	114						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTGGACTTTGCGGATCTGCCG	0.667													4	109					0	0	0	0	T	5455843	C	T	5455843	3	4	241	1	0	0	0	0	1	0	0	0	18307	768	27	1	343	1	ZNRF4	19	5455843	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	775957	5455843	53673140	99	43678											
ACTL9	284382	broad.mit.edu	37	chr19	8807822	8807822	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtagcatttgcggtacacGatatagggaccctgttcctc	9	11	10	11	2	0	0	0	0	0	0	2	2	1	1	2	2	3	4	2	2	4	6			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:8807822G>A	ENST00000324436.3	-	1	1350	c.1230C>T	c.(1228-1230)atC>atT	p.I410I		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	410						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGCGGTACACGATATAGGGAC	0.632													21	36					0	0	0	0	A	8807822	G	A	8807822	2	1	241	1	0	0	0	0	0	0	0	1	203	1048	37	1		1	ACTL9	19	8807822	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08	3351979	8807822	50321161	100	43679											
OR7D2	162998	broad.mit.edu	37	chr19	9296557	9296557	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgggctgttcctgtccAtgtacctggtgacggtgctg	4	15	13	9	1	0	1	0	1	0	0	2	1	2	1	3	3	2	4	3	3	2	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:9296557A>G	ENST00000344248.2	+	1	279	c.100A>G	c.(100-102)Atg>Gtg	p.M34V		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	34					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M34V(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GTTCCTGTCCATGTACCTGGT	0.512													3	27					0	0	0	0	G	9296557	A	G	9296557	3	3	241	1	0	0	0	0	1	0	0	0	11290	217	8	5	102	5	OR7D2	19	9296557	Missense_Mutation	SNP	A	TCGA-CV-5977-01A-11D-1683-08	488735	9296557	49832426	101	43680											
ZNF653	115950	broad.mit.edu	37	chr19	11598501	11598501	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgggttggagcacagcggGgtaccctgctcggccaggct	5	7	17	12	2	0	0	0	0	0	0	1	1	0	1	2	6	4	6	2	6	1	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:11598501G>T	ENST00000293771.5	-	4	913	c.777C>A	c.(775-777)acC>acA	p.T259T	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGCACAGCGGGGTACCCTGCT	0.682													26	47					8.24728e-16	9.47415e-16	1	0	T	11598501	G	T	11598501	2	4	241	1	0	0	0	0	0	0	0	1	18161	1219	43	4		4	ZNF653	19	11598501	Silent	SNP	G	TCGA-CV-5977-01A-11D-1683-08	2301944	11598501	47530482	102	43681											
ZNF708	7562	broad.mit.edu	37	chr19	21493405	21493405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagagagaattctatggCcacatccataaatgtcaatg	14	10	7	10	0	2	2	1	0	1	2	4	3	4	2	3	1	0	0	3	1	5	3			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:21493405C>A	ENST00000356929.3	-	2	225	c.28G>T	c.(28-30)Gcc>Tcc	p.A10S		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						AATTCTATGGCCACATCCATA	0.388													28	45					1.50538e-07	1.64762e-07	1	0	A	21493405	C	A	21493405	3	1	241	1	0	0	0	0	1	0	0	0	18207	739	26	4	1675	4	ZNF708	19	21493405	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	9894904	21493405	37635578	103	43682											
KLK3	354	broad.mit.edu	37	chr19	51363301	51363301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggggcagtgaaccatgtgCcctgcccgaaaggccttccc	8	7	12	14	1	0	1	0	1	0	0	1	2	1	1	5	3	3	1	5	3	2	1			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:51363301C>T	ENST00000326003.2	+	5	745	c.704C>T	c.(703-705)gCc>gTc	p.A235V	KLK3_ENST00000595952.1_Missense_Mutation_p.A192V|KLK3_ENST00000360617.3_3'UTR	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	235	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.A235V(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GAACCATGTGCCCTGCCCGAA	0.562													37	59					0	0	0	0	T	51363301	C	T	51363301	3	4	241	1	0	0	0	0	1	0	0	0	8457	739	26	4	817	4	KLK3	19	51363301	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	29869896	51363301	7765682	104	43683											
ZNF534	147658	broad.mit.edu	37	chr19	52941603	52941603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcatactggagagaagcCttacaaatgtagtgaatgtg	15	11	10	5	0	1	2	1	1	0	1	1	4	1	3	1	1	3	1	1	1	7	4			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:52941603C>A	ENST00000332323.6	+	4	990	c.929C>A	c.(928-930)cCt>cAt	p.P310H	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.P297H|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GGAGAGAAGCCTTACAAATGT	0.393													5	28					0.000602214	0.00063415	1	0	A	52941603	C	A	52941603	3	1	241	1	0	0	0	0	1	0	0	0	18068	681	24	4	943	4	ZNF534	19	52941603	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	1578302	52941603	6187380	105	43684											
ZNF761	388561	broad.mit.edu	37	chr19	53945837	53945837	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggatgctggaccagactTtgcttgacctgaatgagatg	12	10	12	7	0	0	4	0	3	0	2	0	7	0	6	2	2	2	2	2	2	2	2	rs17855120	by1000genomes	TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:53945837T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGACCAGACTTTGCTTGACCT	0.512													4	49					0	0	0	0	C	53945837	T	C	53945837	1	2	241	0	1	0	0	0	0	0	0	0	18230	1856	64	5		5	ZNF761	19	53945837	RNA	SNP	T	TCGA-CV-5977-01A-11D-1683-08	1004234	53945837	5183146	106	43685											
SCRT2	85508	broad.mit.edu	37	chr20	644433	644433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtcgcactggcggcagCggtagtgcttgaaggccgag	6	9	16	10	4	1	1	0	1	1	0	2	2	1	1	1	4	2	4	1	4	2	3			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr20:644433C>T	ENST00000246104.6	-	2	1383	c.806G>A	c.(805-807)cGc>cAc	p.R269H	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|liver(1)|ovary(1)	3						CTGGCGGCAGCGGTAGTGCTT	0.701													7	6					0	0	0	0	T	644433	C	T	644433	3	4	241	1	0	0	0	0	1	0	0	0	14029	768	27	1	121	1	SCRT2	20	644433	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08		644433	62381087	107	43686											
DSCAM	1826	broad.mit.edu	37	chr21	41719759	41719759	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggttgaggatttcaccatTgcggtaccaggagagttcct	9	11	13	8	1	1	2	1	1	0	1	2	4	2	3	3	4	2	3	3	4	1	5			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr21:41719759T>C	ENST00000400454.1	-	6	1525	c.1048A>G	c.(1048-1050)Aat>Gat	p.N350D		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	350	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATTTCACCATTGCGGTACCAG	0.502													5	129					0	0	0	0	C	41719759	T	C	41719759	3	2	241	1	0	0	0	0	1	0	0	0	4804	1812	63	5	5102	5	DSCAM	21	41719759	Missense_Mutation	SNP	T	TCGA-CV-5977-01A-11D-1683-08		41719759	6410136	108	43687											
CACNA1I	8911	broad.mit.edu	37	chr22	40080513	40080513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctccggcaggtaccgacaCctcccaggccctagagcact	8	6	9	18	2	0	1	0	0	0	1	3	2	3	1	6	3	2	3	6	3	2	2			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr22:40080513C>T	ENST00000401624.1	+	36	6037	c.6037C>T	c.(6037-6039)Cct>Tct	p.P2013S	CACNA1I_ENST00000336649.4_Intron|CACNA1I_ENST00000404898.1_Intron|CACNA1I_ENST00000402142.3_Intron|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000407673.1_Missense_Mutation_p.P1978S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	0					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGTACCGACACCTCCCAGGCC	0.637													9	7					0	0	0	0	T	40080513	C	T	40080513	3	4	241	1	0	0	0	0	1	0	0	0	2571	522	18	4		4	CACNA1I	22	40080513	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08		40080513	11224053	109	43688											
EFCAB6	64800	broad.mit.edu	37	chr22	44004470	44004470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgccctcattatcggttTctagaaaattctacaacatc	12	14	4	11	1	3	1	1	0	2	1	5	1	3	1	1	1	3	1	1	1	6	6			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr22:44004470T>C	ENST00000262726.7	-	22	2826	c.2573A>G	c.(2572-2574)gAa>gGa	p.E858G	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E706G	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	858	EF-hand 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.E858G(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATTATCGGTTTCTAGAAAATT	0.403													12	34					0	0	0	0	C	44004470	T	C	44004470	3	2	241	1	0	0	0	0	1	0	0	0	4975	1783	62	5	1976	5	EFCAB6	22	44004470	Missense_Mutation	SNP	T	TCGA-CV-5977-01A-11D-1683-08	3923957	44004470	7300096	110	43689											
XPNPEP2	7512	broad.mit.edu	37	chrX	128887212	128887212	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaaggagcaggccctcctCaaggccagccacgtaagtcc	11	4	11	15	1	1	0	1	0	0	0	3	1	3	1	5	3	3	3	5	3	3	1			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chrX:128887212C>G	ENST00000371106.3	+	11	1287	c.1095C>G	c.(1093-1095)ctC>ctG	p.L365L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	365					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGCCCTCCTCAAGGCCAGCC	0.537													33	51					0	0	0	0	G	128887212	C	G	128887212	2	3	241	1	0	0	0	0	0	0	0	1	17539	813	29	2		2	XPNPEP2	23	128887212	Silent	SNP	C	TCGA-CV-5977-01A-11D-1683-08		128887212	26383348	111	43690											
FLNA	2316	broad.mit.edu	37	chrX	153591106	153591106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtcttggctactccggggCcgtatactttgaccttgttg	4	15	11	11	2	1	1	0	1	1	0	2	1	2	1	3	3	2	3	3	3	3	7			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chrX:153591106C>A	ENST00000422373.1	-	16	2575	c.2327G>T	c.(2326-2328)gGc>gTc	p.G776V	FLNA_ENST00000344736.4_Missense_Mutation_p.G776V|FLNA_ENST00000369850.3_Missense_Mutation_p.G776V|FLNA_ENST00000360319.4_Missense_Mutation_p.G776V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	776					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACTCCGGGGCCGTATACTTT	0.637													8	1					0.0381472	0.0395706	1	0	A	153591106	C	A	153591106	3	1	241	1	0	0	0	0	1	0	0	0	5978	739	26	4	5748	4	FLNA	23	153591106	Missense_Mutation	SNP	C	TCGA-CV-5977-01A-11D-1683-08	24703894	153591106	1679454	112	43691											
DVL1	1855	broad.mit.edu	37	chr1	1273764	1273764	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtacttccgggcctcccgCcgctccttgaagccctccac	4	8	9	20	4	0	1	0	1	0	0	4	1	4	1	7	1	2	2	7	1	2	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:1273764C>A	ENST00000378888.5	-	13	1676	c.1392G>T	c.(1390-1392)cgG>cgT	p.R464R	DVL1_ENST00000378891.5_Silent_p.R439R			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	464	DEP.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGCCTCCCGCCGCTCCTTGA	0.657													6	10					0.00198382	0.00208555	1	0	A	1273764	C	A	1273764	2	1	242	1	0	0	0	0	0	0	0	1	4871	726	26	4		4	DVL1	1	1273764	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08		1273764	247976857	1	43692											
RAD54L	8438	broad.mit.edu	37	chr1	46726604	46726604	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggtgaagaactggtacaAtgaggttgggaaatggctcg	11	9	15	6	1	0	3	0	2	0	1	1	4	0	4	1	5	2	3	1	5	5	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:46726604A>G	ENST00000371975.4	+	7	1357	c.683A>G	c.(682-684)aAt>aGt	p.N228S	RAD54L_ENST00000442598.1_Missense_Mutation_p.N228S	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	228	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AACTGGTACAATGAGGTTGGG	0.512								Direct reversal of damage;Homologous recombination					5	43					0	0	0	0	G	46726604	A	G	46726604	3	3	242	1	0	0	0	0	1	0	0	0	13075	101	4	5	709	5	RAD54L	1	46726604	Missense_Mutation	SNP	A	TCGA-CV-5978-01A-11D-1683-08	45452840	46726604	202524017	2	43693											
RPE65	6121	broad.mit.edu	37	chr1	68896799	68896799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacaaagatgggttctgatgGgtatgaatcaggctcttgcc	11	11	12	7	0	3	3	1	2	2	1	3	3	3	3	1	3	2	3	1	3	4	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:68896799G>A	ENST00000262340.5	-	13	1452	c.1399C>T	c.(1399-1401)Cca>Tca	p.P467S		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	467					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GGTTCTGATGGGTATGAATCA	0.393													19	36					0	0	0	0	A	68896799	G	A	68896799	3	1	242	1	0	0	0	0	1	0	0	0	13630	1232	43	4	210	4	RPE65	1	68896799	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	22170195	68896799	180353822	3	43694											
TYW3	127253	broad.mit.edu	37	chr1	75199080	75199080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccaccagctcctgcgctgGccgcatcctactccttgacc	6	8	7	20	2	0	1	0	1	0	0	3	1	3	1	7	1	3	3	7	1	1	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:75199080G>T	ENST00000370867.3	+	1	241	c.152G>T	c.(151-153)gGc>gTc	p.G51V	TYW3_ENST00000479111.1_3'UTR|CRYZ_ENST00000417775.1_5'UTR|TYW3_ENST00000421739.2_Missense_Mutation_p.G51V|TYW3_ENST00000457880.2_Missense_Mutation_p.G51V	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	51					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						TCCTGCGCTGGCCGCATCCTA	0.587													4	29					0.014758	0.0153184	1	0	T	75199080	G	T	75199080	3	4	242	1	0	0	0	0	1	0	0	0	16916	1203	42	4	154	4	TYW3	1	75199080	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	6302281	75199080	174051541	4	43695											
FAM63A	55793	broad.mit.edu	37	chr1	150974779	150974779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctggctcaggctgtcgggtCctgggggactgaggaagctc	5	9	17	10	1	2	1	1	1	1	0	5	3	3	3	1	6	1	3	1	6	1	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:150974779C>G	ENST00000361936.5	-	3	1269	c.315G>C	c.(313-315)agG>agC	p.R105S	FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_5'UTR|FAM63A_ENST00000361738.6_Missense_Mutation_p.R153S|FAM63A_ENST00000493834.2_Missense_Mutation_p.R10S	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	105							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTGTCGGGTCCTGGGGGACT	0.577													8	85					0	0	0	0	G	150974779	C	G	150974779	3	3	242	1	0	0	0	0	1	0	0	0	5642	854	30	2	1130	2	FAM63A	1	150974779	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	75775699	150974779	98275842	5	43696											
DENND4B	9909	broad.mit.edu	37	chr1	153910068	153910068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactcaaacaactcagcccGtagctctgggaatccatcat	13	8	7	13	1	4	1	3	0	1	1	5	2	5	2	2	1	4	2	2	1	4	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:153910068G>A	ENST00000361217.4	-	15	2546	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	710										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AACTCAGCCCGTAGCTCTGGG	0.612													12	38					0	0	0	0	A	153910068	G	A	153910068	3	1	242	1	0	0	0	0	1	0	0	0	4471	1144	40	1	2418	1	DENND4B	1	153910068	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	2935289	153910068	95340553	6	43697											
DARC	2532	broad.mit.edu	37	chr1	159175705	159175705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgggccacagactgggtgCaggccaggtcccaggcctca	7	5	14	15	0	1	1	1	0	0	1	2	1	2	1	5	5	1	1	5	5	0	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:159175705C>G	ENST00000537147.1	+	3	1319	c.476C>G	c.(475-477)gCa>gGa	p.A159G	DARC_ENST00000368121.2_Missense_Mutation_p.A161G|DARC_ENST00000368122.2_Missense_Mutation_p.A159G			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	159					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					AGACTGGGTGCAGGCCAGGTC	0.632													3	28					0	0	0	0	G	159175705	C	G	159175705	3	3	242	1	0	0	0	0	1	0	0	0	4273	710	25	4	509	4	DARC	1	159175705	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	5265637	159175705	90074916	7	43698											
ATP1A4	480	broad.mit.edu	37	chr1	160124906	160124906	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttaccccaccccccacCactccagaatgggtcaaatt	11	8	5	17	0	1	1	1	0	0	1	2	1	2	1	7	1	1	1	7	1	3	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:160124906C>A	ENST00000368081.4	+	3	750	c.279C>A	c.(277-279)acC>acA	p.T93T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	93					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACCCCCCACCACTCCAGAAT	0.527													16	68					1.33834e-09	1.67975e-09	1	0	A	160124906	C	A	160124906	2	1	242	1	0	0	0	0	0	0	0	1	1135	581	21	4		4	ATP1A4	1	160124906	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08	949201	160124906	89125715	8	43699											
CD84	8832	broad.mit.edu	37	chr1	160535331	160535331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggacctaaggcatgtatcCgttcataataatttctgtgg	10	14	9	8	2	2	0	1	0	1	0	4	1	3	1	2	3	0	3	2	3	4	6			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:160535331C>T	ENST00000368054.3	-	2	286	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000311224.4_Missense_Mutation_p.R84Q|CD84_ENST00000368051.3_Missense_Mutation_p.R84Q|CD84_ENST00000534968.1_Intron|CD84_ENST00000368048.3_Missense_Mutation_p.R84Q|CD84_ENST00000368047.3_5'UTR	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	84					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.R84L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGCATGTATCCGTTCATAATA	0.438													23	146					0	0	0	0	T	160535331	C	T	160535331	3	4	242	1	0	0	0	0	1	0	0	0	3071	652	23	1	814	1	CD84	1	160535331	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	410425	160535331	88715290	9	43700											
DNM3	26052	broad.mit.edu	37	chr1	171956944	171956944	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgagtctattccccacaCggtaagtaaaataataaaat	17	11	5	8	2	1	0	0	0	1	0	2	1	2	0	2	1	1	2	2	1	8	7			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:171956944C>A	ENST00000358155.4	+	3	560	c.385_splice	c.e3+1	p.H128_splice	DNM3_ENST00000367733.2_Splice_Site_p.H128_splice|DNM3_ENST00000520906.1_Splice_Site_p.H128_splice|DNM3_ENST00000355305.5_Splice_Site_p.H128_splice|DNM3_ENST00000367731.1_Splice_Site_p.H128_splice	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	128					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATTCCCCACACGGTAAGTAAA	0.348													10	88					3.86212e-05	4.33827e-05	1	0	A	171956944	C	A	171956944	5	1	242	1	0	0	0	0	0	0	1	0	4709	550	19	3	394	3	DNM3	1	171956944	Splice_Site	SNP	C	TCGA-CV-5978-01A-11D-1683-08	11421613	171956944	77293677	10	43701											
PAPPA2	60676	broad.mit.edu	37	chr1	176708895	176708895	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtggaagcaaccactctcTtggtgagtctgacaaatatc	11	10	9	11	1	2	2	0	2	2	0	4	3	2	3	2	2	2	1	2	2	4	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:176708895T>C	ENST00000367662.3	+	13	5096	c.3932T>C	c.(3931-3933)cTt>cCt	p.L1311P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1311					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACCACTCTCTTGGTGAGTCT	0.478													4	37					0	0	0	0	C	176708895	T	C	176708895	3	2	242	1	0	0	0	0	1	0	0	0	11504	1609	56	5	4031	5	PAPPA2	1	176708895	Missense_Mutation	SNP	T	TCGA-CV-5978-01A-11D-1683-08	4751951	176708895	72541726	11	43702											
PDC	5132	broad.mit.edu	37	chr1	186413572	186413572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctgcatacactgtctacGgtatttacgaaggcagtttt	10	14	8	9	2	1	0	0	0	1	0	2	1	2	0	1	2	4	4	1	2	5	7			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:186413572G>A	ENST00000391997.2	-	4	367	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	PDC_ENST00000497198.1_Missense_Mutation_p.R42C|PDC_ENST00000340129.5_Missense_Mutation_p.R94C|PDC_ENST00000456239.2_Missense_Mutation_p.R42C	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	94					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		CACTGTCTACGGTATTTACGA	0.368													4	110					0	0	0	0	A	186413572	G	A	186413572	3	1	242	1	0	0	0	0	1	0	0	0	11685	1116	39	1	464	1	PDC	1	186413572	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	9704677	186413572	62837049	12	43703											
RGS18	64407	broad.mit.edu	37	chr1	192127873	192127873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaagaagaaacaagcaaaGaagccaaaatcaggtaaaat	25	3	8	5	0	1	3	1	0	0	3	1	4	1	3	1	1	3	2	1	1	11	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:192127873G>A	ENST00000367460.3	+	1	287	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	36					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AACAAGCAAAGAAGCCAAAAT	0.274													12	25					0	0	0	0	A	192127873	G	A	192127873	3	1	242	1	0	0	0	0	1	0	0	0	13383	943	33	2	108	2	RGS18	1	192127873	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	5714301	192127873	57122748	13	43704											
SRGAP2	23380	broad.mit.edu	37	chr1	206631989	206631989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaaggaagcgtccagaatCtgggagcatccggaaaactt	14	6	12	9	2	1	1	0	0	1	1	3	4	3	4	2	3	3	2	2	3	5	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:206631989C>T	ENST00000414007.1	+	18	2108	c.2108C>T	c.(2107-2109)tCt>tTt	p.S703F	SRGAP2_ENST00000419187.2_Missense_Mutation_p.161_161insF			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	843					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CGTCCAGAATCTGGGAGCATC	0.582													6	4					0	0	0	0	T	206631989	C	T	206631989	3	4	242	1	0	0	0	0	1	0	0	0	15236	913	32	2	2346	2	SRGAP2	1	206631989	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	14504116	206631989	42618632	14	43705											
CR2	1380	broad.mit.edu	37	chr1	207646235	207646235	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgggccagaaagaggAgtggaattcagcctcattgg	12	7	13	9	0	2	2	2	0	0	2	2	4	2	4	3	4	2	0	3	4	3	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:207646235A>G	ENST00000367057.3	+	10	1878	c.1689A>G	c.(1687-1689)ggA>ggG	p.G563G	CR2_ENST00000367059.3_Silent_p.G563G|CR2_ENST00000367058.3_Silent_p.G563G|CR2_ENST00000458541.2_Silent_p.G536G	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	563	Sushi 9.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGAAAGAGGAGTGGAATTCA	0.507													7	52					0	0	0	0	G	207646235	A	G	207646235	2	3	242	1	0	0	0	0	0	0	0	1	3872	291	11	5		5	CR2	1	207646235	Silent	SNP	A	TCGA-CV-5978-01A-11D-1683-08	1014246	207646235	41604386	15	43706											
CAPN9	10753	broad.mit.edu	37	chr1	230903376	230903376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcagagaccttccaaaCtaaagaggcccccgagaact	13	6	10	12	1	0	3	0	0	0	3	1	5	1	3	4	2	2	1	4	2	4	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:230903376C>A	ENST00000354537.1	+	5	708	c.626C>A	c.(625-627)aCt>aAt	p.T209N	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.T146N|CAPN9_ENST00000271971.2_Missense_Mutation_p.T209N	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	209	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ACCTTCCAAACTAAAGAGGCC	0.542													32	97					1.62565e-12	2.1853e-12	1	0	A	230903376	C	A	230903376	3	1	242	1	0	0	0	0	1	0	0	0	2657	565	20	4	644	4	CAPN9	1	230903376	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	23257141	230903376	18347245	16	43707											
OR2W3	343171	broad.mit.edu	37	chr1	248058896	248058896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcagcagtagagatggatgGaaccaatggcagcacccaaa	16	4	12	9	0	0	1	0	0	0	1	0	4	0	3	2	3	4	5	2	3	4	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:248058896G>A	ENST00000537741.1	+	3	265	c.8G>A	c.(7-9)gGa>gAa	p.G3E	OR2W3_ENST00000360358.3_Missense_Mutation_p.G3E			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGATGGATGGAACCAATGGC	0.433													6	24					0	0	0	0	A	248058896	G	A	248058896	3	1	242	1	0	0	0	0	1	0	0	0	11104	1174	41	2	10	2	OR2W3	1	248058896	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	17155520	248058896	1191725	17	43708											
TACR1	6869	broad.mit.edu	37	chr2	75425690	75425690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctatcaaaggccacagccGtcatggagtagatactggcg	12	7	11	11	2	2	1	2	0	0	1	2	2	2	2	3	3	2	1	3	3	4	3	rs138993766		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:75425690G>A	ENST00000305249.4	-	1	1136	c.371C>T	c.(370-372)aCg>aTg	p.T124M	TACR1_ENST00000409848.3_Missense_Mutation_p.T124M	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	124					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGCCACAGCCGTCATGGAGTA	0.512													9	51					0	0	0	0	A	75425690	G	A	75425690	3	1	242	1	0	0	0	0	1	0	0	0	15596	1145	40	1	876	1	TACR1	2	75425690	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08		75425690	167773683	18	43709											
TFCP2L1	29842	broad.mit.edu	37	chr2	122038776	122038776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaacacatattgcaggggtGgcaggcgggcctcgttctcg	8	8	14	11	3	1	0	0	0	1	0	3	0	1	0	1	5	2	3	1	5	2	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:122038776G>A	ENST00000263707.5	-	2	231	c.134C>T	c.(133-135)cCa>cTa	p.P45L		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	45	Mediate transcriptional repression.				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TTGCAGGGGTGGCAGGCGGGC	0.617													40	134					0	0	0	0	A	122038776	G	A	122038776	3	1	242	1	0	0	0	0	1	0	0	0	15890	1348	47	4	1361	4	TFCP2L1	2	122038776	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	46613086	122038776	121160597	19	43710											
GYPC	2995	broad.mit.edu	37	chr2	127447862	127447862	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatggcctctgcctccacCacaatgcatactaccaccat	10	8	7	16	0	1	0	0	0	1	0	2	1	2	1	6	2	4	1	6	2	3	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:127447862C>A	ENST00000259254.4	+	2	412	c.81C>A	c.(79-81)acC>acA	p.T27T	GYPC_ENST00000409836.3_Intron|GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000356887.7_Silent_p.T6T	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	27						cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CTGCCTCCACCACAATGCATA	0.532													8	38					0.000442599	0.000481767	1	0	A	127447862	C	A	127447862	2	1	242	1	0	0	0	0	0	0	0	1	6960	581	21	4		4	GYPC	2	127447862	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08	5409086	127447862	115751511	20	43711											
GYPC	2995	broad.mit.edu	37	chr2	127453707	127453707	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatagcagcagaaaggagTactttatttgagggacaaca	15	9	12	5	0	0	3	0	2	0	1	0	5	0	5	0	2	4	3	0	2	5	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:127453707T>G	ENST00000259254.4	+	4	707	c.376T>G	c.(376-378)Tac>Gac	p.Y126D	GYPC_ENST00000409836.3_Missense_Mutation_p.Y107D|GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000356887.7_Missense_Mutation_p.Y105D	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	126						cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CAGAAAGGAGTACTTTATTTG	0.552													8	19					0	0	0	0	G	127453707	T	G	127453707	3	3	242	1	0	0	0	0	1	0	0	0	6960	1638	57	5	390	5	GYPC	2	127453707	Missense_Mutation	SNP	T	TCGA-CV-5978-01A-11D-1683-08	5845	127453707	115745666	21	43712											
IWS1	55677	broad.mit.edu	37	chr2	128262822	128262822	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgaatcactgacctgAggtttaggaagctcctcact	9	13	8	11	0	3	3	2	3	1	0	4	4	4	4	2	2	1	2	2	2	3	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:128262822A>G	ENST00000295321.4	-	3	916	c.657T>C	c.(655-657)ccT>ccC	p.P219P	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Silent_p.P226P	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	219	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CACTGACCTGAGGTTTAGGAA	0.512													32	195					0	0	0	0	G	128262822	A	G	128262822	2	3	242	1	0	0	0	0	0	0	0	1	7984	291	11	5		5	IWS1	2	128262822	Silent	SNP	A	TCGA-CV-5978-01A-11D-1683-08	809115	128262822	114936551	22	43713											
LRP1B	53353	broad.mit.edu	37	chr2	141208173	141208173	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagatccatcaccacagtCatccacggtgtcacatttcc	11	10	5	15	1	4	1	4	0	0	1	7	1	7	1	4	1	0	0	4	1	0	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:141208173C>A	ENST00000389484.3	-	63	10992	c.10021G>T	c.(10021-10023)Gac>Tac	p.D3341Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3341	LDL-receptor class A 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D3341Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACCACAGTCATCCACGGTG	0.358										TSP Lung(27;0.18)			18	51					8.34094e-07	9.86476e-07	1	0	A	141208173	C	A	141208173	3	1	242	1	0	0	0	0	1	0	0	0	9019	826	29	2	3894	2	LRP1B	2	141208173	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	12945351	141208173	101991200	23	43714											
TTN	7273	broad.mit.edu	37	chr2	179395327	179395327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgagctcataggtaccatCtgctgaataatgaaactgga	13	12	9	7	0	2	3	1	3	1	0	2	4	2	4	1	2	4	3	1	2	5	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:179395327C>T	ENST00000589042.1	-	358	106239	c.106015G>A	c.(106015-106017)Gat>Aat	p.D35339N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D26466N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D32771N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D33698N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26399N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D26274N|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33698							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)			TAGGTACCATCTGCTGAATAA	0.393													3	61					0	0	0	0	T	179395327	C	T	179395327	3	4	242	1	0	0	0	0	1	0	0	0	16831	913	32	2	1984	2	TTN	2	179395327	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	38187154	179395327	63804046	24	43715											
SLC4A3	6508	broad.mit.edu	37	chr2	220501091	220501091	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgctgtgctcggcgtcctCttctctctgctgggagctca	3	12	11	15	3	4	0	1	0	3	0	7	1	5	1	2	2	3	4	2	2	0	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:220501091C>G	ENST00000358055.3	+	15	2771	c.2259C>G	c.(2257-2259)ctC>ctG	p.L753L	SLC4A3_ENST00000373762.3_Silent_p.L780L|SLC4A3_ENST00000273063.6_Silent_p.L780L|SLC4A3_ENST00000317151.3_Silent_p.L753L|SLC4A3_ENST00000373760.2_Silent_p.L753L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	753	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGGCGTCCTCTTCTCTCTGC	0.622													21	52					0	0	0	0	G	220501091	C	G	220501091	2	3	242	1	0	0	0	0	0	0	0	1	14743	900	32	2		2	SLC4A3	2	220501091	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08	41105764	220501091	22698282	25	43716											
EPHA4	2043	broad.mit.edu	37	chr2	222347263	222347263	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttccacagggtcggcacTtgctggggtcaccagctcca	7	8	11	15	1	1	0	1	0	0	0	4	0	3	0	3	4	2	3	3	4	0	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:222347263T>A	ENST00000281821.2	-	5	1168	c.1127A>T	c.(1126-1128)aAg>aTg	p.K376M	EPHA4_ENST00000409938.1_Missense_Mutation_p.K376M|EPHA4_ENST00000392071.4_Missense_Mutation_p.K325M|EPHA4_ENST00000409854.1_Missense_Mutation_p.K376M	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	376	Fibronectin type-III 1.					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)		GGGTCGGCACTTGCTGGGGTC	0.517													61	182					0	0	0	0	A	222347263	T	A	222347263	3	1	242	1	0	0	0	0	1	0	0	0	5207	1609	56	5	1885	5	EPHA4	2	222347263	Missense_Mutation	SNP	T	TCGA-CV-5978-01A-11D-1683-08	1846172	222347263	20852110	26	43717											
SRGAP3	9901	broad.mit.edu	37	chr3	9027554	9027554	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctggcgcctgcttgacCgtgttctgcctctcgagttc	4	13	10	14	3	3	1	0	1	3	0	5	2	3	1	3	1	2	3	3	1	0	3	rs147085328	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:9027554C>A	ENST00000383836.3	-	22	3376	c.2949G>T	c.(2947-2949)acG>acT	p.T983T	SRGAP3_ENST00000360413.3_Silent_p.T959T	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	983					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCTGCTTGACCGTGTTCTGCC	0.647			T	RAF1	pilocytic astrocytoma								15	46					1.52009e-12	2.05463e-12	1	0	A	9027554	C	A	9027554	2	1	242	1	0	0	0	0	0	0	0	1	15237	639	23	3		3	SRGAP3	3	9027554	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08		9027554	188994876	27	43718											
SCN5A	6331	broad.mit.edu	37	chr3	38597251	38597251	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagatgtcctggccccctaAgtgcaaagagaaggcaccaa	14	5	11	11	0	0	2	0	0	0	2	1	4	1	2	4	2	1	2	4	2	5	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:38597251A>G	ENST00000413689.1	-	26	4631	c.4437_splice	c.e26-1	p.L1480_splice	SCN5A_ENST00000414099.2_Splice_Site_p.L1462_splice|SCN5A_ENST00000455624.2_Splice_Site_p.L1479_splice|SCN5A_ENST00000451551.2_Splice_Site_p.L1426_splice|SCN5A_ENST00000333535.4_Splice_Site_p.L1480_splice|SCN5A_ENST00000450102.2_Splice_Site_p.L1426_splice|SCN5A_ENST00000449557.2_Splice_Site_p.L1426_splice|SCN5A_ENST00000443581.1_Splice_Site_p.L1479_splice|SCN5A_ENST00000425664.1_Splice_Site_p.L1462_splice|SCN5A_ENST00000423572.2_Splice_Site_p.L1479_splice	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1480				LG -> IR (in Ref. 7; ABQ01244).	blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGGCCCCCTAAGTGCAAAGAG	0.557													17	26					0	0	0	0	G	38597251	A	G	38597251	5	3	242	1	0	0	0	0	0	0	1	0	14009	86	3	5	1624	5	SCN5A	3	38597251	Splice_Site	SNP	A	TCGA-CV-5978-01A-11D-1683-08	29569697	38597251	159425179	28	43719											
TGM4	7047	broad.mit.edu	37	chr3	44929184	44929184	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgggtgtctccagggcCgaatcctagcatcgccaaac	8	9	10	14	2	1	0	0	0	1	0	4	1	2	0	5	2	2	1	5	2	3	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:44929184C>G	ENST00000296125.4	+	3	265	c.197C>G	c.(196-198)cCg>cGg	p.P66R		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	66					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TCTCCAGGGCCGAATCCTAGC	0.592													18	22					0	0	0	0	G	44929184	C	G	44929184	3	3	242	1	0	0	0	0	1	0	0	0	15926	652	23	3	207	3	TGM4	3	44929184	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	6331933	44929184	153093246	29	43720											
IP6K2	51447	broad.mit.edu	37	chr3	48725981	48725982	+	Frame_Shift_Ins	INS	-	-	A																															tcgggccgctccttgccatcINSataaatgaccagcagggagc																										TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:48725981_48725982insA	ENST00000328631.5	-	6	1228_1229	c.1005_1006insT	c.(1003-1008)taatggfs	p.*W335fs		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	335					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TCCTTGCCATCATAAATGACCA	0.554													30	49	---	---	---	---					A	48725982	-	A	48725981	7	5	242	1	0	1	1	0	0	0	0	0	7842	826	29	0	278	0	IP6K2	3	48725981	Frame_Shift_Ins	INS	-	TCGA-CV-5978-01A-11D-1683-08	3796797	48725981	149296449	30	43721											
ACY1	95	broad.mit.edu	37	chr3	52021202	52021202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctggcattccgggagaagGaatggcagaggtgaggcagc	10	6	17	8	1	0	3	0	1	0	2	2	5	2	4	2	6	1	3	2	6	2	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:52021202G>A	ENST00000458031.2	+	12	1198	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	ACY1_ENST00000494103.1_Missense_Mutation_p.E161K|ACY1_ENST00000476351.1_Missense_Mutation_p.E198K|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.E334K|ACY1_ENST00000476854.1_Intron|ACY1_ENST00000404366.2_Missense_Mutation_p.E233K			Q03154	ACY1_HUMAN	aminoacylase 1	233					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	CCGGGAGAAGGAATGGCAGAG	0.552													48	58					0	0	0	0	A	52021202	G	A	52021202	3	1	242	1	0	0	0	0	1	0	0	0	226	1175	41	2	731	2	ACY1	3	52021202	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	3295221	52021202	146001228	31	43722											
MYH15	22989	broad.mit.edu	37	chr3	108195314	108195314	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggatggatcaagcactttAccaactcagaggagttaatg	14	10	10	7	0	2	1	2	0	0	1	2	4	2	4	1	3	3	2	1	3	5	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:108195314A>T	ENST00000273353.3	-	13	1279	c.1223T>A	c.(1222-1224)gTa>gAa	p.V408E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	408	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAAGCACTTTACCAACTCAGA	0.383													4	34					0	0	0	0	T	108195314	A	T	108195314	3	4	242	1	0	0	0	0	1	0	0	0	10104	391	14	5	4737	5	MYH15	3	108195314	Missense_Mutation	SNP	A	TCGA-CV-5978-01A-11D-1683-08	56174112	108195314	89827116	32	43723											
MORC1	27136	broad.mit.edu	37	chr3	108688550	108688550	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagctttttgttcatcTgctctgggcactgctccagc	4	17	8	12	0	4	0	2	0	2	0	5	0	5	0	1	1	4	5	1	1	0	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:108688550T>A	ENST00000232603.5	-	26	2652	c.2570A>T	c.(2569-2571)cAg>cTg	p.Q857L	MORC1_ENST00000483760.1_Missense_Mutation_p.Q836L	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	857					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTGTTCATCTGCTCTGGGCA	0.363													10	56					0	0	0	0	A	108688550	T	A	108688550	3	1	242	1	0	0	0	0	1	0	0	0	9771	1580	55	5	396	5	MORC1	3	108688550	Missense_Mutation	SNP	T	TCGA-CV-5978-01A-11D-1683-08	493236	108688550	89333880	33	43724											
COL6A6	131873	broad.mit.edu	37	chr3	130282012	130282012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcaccaaaatgatcagCagtctccccatagaggccga	13	8	7	13	1	4	2	3	1	1	1	5	3	4	2	4	1	1	1	4	1	3	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:130282012C>A	ENST00000358511.6	+	2	196	c.165C>A	c.(163-165)agC>agA	p.S55R	COL6A6_ENST00000453409.2_Missense_Mutation_p.S55R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	55	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAATGATCAGCAGTCTCCCCA	0.502													22	118					7.45023e-12	9.7487e-12	1	0	A	130282012	C	A	130282012	3	1	242	1	0	0	0	0	1	0	0	0	3733	709	25	4	171	4	COL6A6	3	130282012	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	21593462	130282012	67740418	34	43725											
ATP2C1	27032	broad.mit.edu	37	chr3	130683878	130683878	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatatttacttcagatggtCtgcatgctgaggtactctat	10	15	8	8	0	3	2	1	1	2	1	3	2	3	2	0	2	4	3	0	2	4	6			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:130683878C>T	ENST00000510168.1	+	14	1661	c.1111C>T	c.(1111-1113)Ctg>Ttg	p.L371L	ATP2C1_ENST00000513801.1_Silent_p.L355L|ATP2C1_ENST00000428331.2_Silent_p.L371L|ATP2C1_ENST00000393221.4_Silent_p.L405L|ATP2C1_ENST00000359644.3_Silent_p.L371L|ATP2C1_ENST00000328560.8_Silent_p.L371L|ATP2C1_ENST00000505330.1_Silent_p.L355L|ATP2C1_ENST00000504948.1_Silent_p.L355L|ATP2C1_ENST00000422190.2_Silent_p.L371L|ATP2C1_ENST00000504381.1_Silent_p.L316L|ATP2C1_ENST00000508532.1_Silent_p.L371L|ATP2C1_ENST00000533801.2_Silent_p.L366L|ATP2C1_ENST00000507488.2_Silent_p.L355L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	371					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTCAGATGGTCTGCATGCTGA	0.343									Hailey-Hailey disease				6	50					0	0	0	0	T	130683878	C	T	130683878	2	4	242	1	0	0	0	0	0	0	0	1	1147	912	32	2		2	ATP2C1	3	130683878	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08	401866	130683878	67338552	35	43726											
PLSCR2	57047	broad.mit.edu	37	chr3	146173132	146173132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaaggtaaaaggtctaGaccgcccacagcaatttcgg	12	8	9	12	2	2	1	1	0	1	1	4	1	3	1	3	3	1	2	3	3	5	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:146173132G>T	ENST00000497985.1	-	6	873	c.434C>A	c.(433-435)tCt>tAt	p.S145Y	PLSCR2_ENST00000336685.2_Missense_Mutation_p.S72Y	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	72					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						AAAAGGTCTAGACCGCCCACA	0.413													16	103					2.62699e-14	3.71402e-14	1	0	T	146173132	G	T	146173132	3	4	242	1	0	0	0	0	1	0	0	0	12182	942	33	2	475	2	PLSCR2	3	146173132	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	15489254	146173132	51849298	36	43727											
ZIC4	84107	broad.mit.edu	37	chr3	147113700	147113700	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagaccttcccacacccCgggaaaggacaagggaaggg	14	2	13	12	1	0	1	0	0	0	1	1	4	1	4	4	4	0	1	4	4	4	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:147113700C>A	ENST00000383075.3	-	3	1139	c.627G>T	c.(625-627)ccG>ccT	p.P209P	ZIC4_ENST00000425731.3_Silent_p.P247P|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Silent_p.P209P|ZIC4_ENST00000525172.2_Silent_p.P259P|ZIC4_ENST00000484399.1_Silent_p.P209P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	209						nucleus	DNA binding|zinc ion binding	p.P209P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCCCACACCCCGGGAAAGGAC	0.532													18	107					6.94344e-10	8.85019e-10	1	0	A	147113700	C	A	147113700	2	1	242	1	0	0	0	0	0	0	0	1	17776	639	23	3		3	ZIC4	3	147113700	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08	940568	147113700	50908730	37	43728											
GMPS	8833	broad.mit.edu	37	chr3	155623996	155623996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttacacatggagatagtgTagacaaagtagctgatggat	14	10	12	5	0	0	3	0	1	0	2	0	5	0	4	0	2	2	4	0	2	5	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:155623996T>C	ENST00000496455.1	+	5	805	c.470T>C	c.(469-471)gTa>gCa	p.V157A	GMPS_ENST00000476145.1_3'UTR|GMPS_ENST00000295920.7_Missense_Mutation_p.V58A	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	157	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGAGATAGTGTAGACAAAGTA	0.323			T	MLL	AML								90	109					0	0	0	0	C	155623996	T	C	155623996	3	2	242	1	0	0	0	0	1	0	0	0	6549	1638	57	5	488	5	GMPS	3	155623996	Missense_Mutation	SNP	T	TCGA-CV-5978-01A-11D-1683-08	8510296	155623996	42398434	38	43729											
SMC4	10051	broad.mit.edu	37	chr3	160148867	160148867	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcgcaatctgcttcaagaAttaaaagttattcaagaaaa	18	11	5	7	1	3	2	2	0	1	2	4	2	3	2	0	0	1	3	0	0	9	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:160148867A>C	ENST00000357388.3	+	20	3439	c.2988A>C	c.(2986-2988)gaA>gaC	p.E996D	SMC4_ENST00000462787.1_Intron|SMC4_ENST00000360111.2_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.E996D|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.E971D	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	996					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGCTTCAAGAATTAAAAGTTA	0.328													12	100					0	0	0	0	C	160148867	A	C	160148867	3	2	242	1	0	0	0	0	1	0	0	0	14873	98	4	5	3062	5	SMC4	3	160148867	Missense_Mutation	SNP	A	TCGA-CV-5978-01A-11D-1683-08	4524871	160148867	37873563	39	43730											
SLC7A14	57709	broad.mit.edu	37	chr3	170198783	170198783	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcactctcaggttggtatcGaaggagcaagacacagacag	13	7	12	9	1	2	2	2	0	1	2	4	4	2	3	0	3	1	3	0	3	3	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:170198783G>A	ENST00000231706.4	-	7	1603	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	430						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGTTGGTATCGAAGGAGCAAG	0.512													8	82					0	0	0	0	A	170198783	G	A	170198783	4	1	242	1	0	0	0	0	0	1	0	0	14784	1066	37	1	1035	1	SLC7A14	3	170198783	Nonsense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	10049916	170198783	27823647	40	43731											
NAALADL2	254827	broad.mit.edu	37	chr3	175184932	175184932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgttttctgttcttggggagGaacagcttttggcaatattg	7	17	12	5	0	2	0	0	0	2	0	2	2	2	2	0	4	2	4	0	4	3	8			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:175184932G>C	ENST00000454872.1	+	8	1621	c.1493G>C	c.(1492-1494)gGa>gCa	p.G498A	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	498					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TCTTGGGGAGGAACAGCTTTT	0.388													7	102					0	0	0	0	C	175184932	G	C	175184932	3	2	242	1	0	0	0	0	1	0	0	0	10200	1174	41	2	1523	2	NAALADL2	3	175184932	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	4986149	175184932	22837498	41	43732											
CLDN16	10686	broad.mit.edu	37	chr3	190126229	190126229	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcctgttggctcggaaTggctgggtctctgggttgct	2	15	16	8	1	1	0	0	0	1	0	4	1	2	1	1	6	1	5	1	6	1	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:190126229T>A	ENST00000264734.2	+	4	967	c.719T>A	c.(718-720)aTg>aAg	p.M240K	CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	240					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TGGCTCGGAATGGCTGGGTCT	0.388													6	240					0	0	0	0	A	190126229	T	A	190126229	3	1	242	1	0	0	0	0	1	0	0	0	3507	1464	51	5	733	5	CLDN16	3	190126229	Missense_Mutation	SNP	T	TCGA-CV-5978-01A-11D-1683-08	14941297	190126229	7896201	42	43733											
COL25A1	84570	broad.mit.edu	37	chr4	110223145	110223145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctgggctcccggccccCtcctttccctgcgtgcttct	1	12	10	18	2	2	0	0	0	2	0	5	1	5	1	5	3	2	2	5	3	0	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:110223145C>T	ENST00000399132.1	-	2	561	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	COL25A1_ENST00000399126.1_Missense_Mutation_p.G11R|COL25A1_ENST00000399127.1_Missense_Mutation_p.G11R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	11						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCCCGGCCCCCTCCTTTCCCT	0.637													9	34					0	0	0	0	T	110223145	C	T	110223145	3	4	242	1	0	0	0	0	1	0	0	0	3714	681	24	4	2161	4	COL25A1	4	110223145	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08		110223145	80931131	43	43734											
TRPC3	7222	broad.mit.edu	37	chr4	122836027	122836027	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacttgatagctatggtctGctcccttaggcctgagaggt	8	12	11	10	0	1	2	0	2	1	1	2	3	2	2	2	3	2	2	2	3	3	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:122836027G>A	ENST00000264811.5	-	3	1448	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*	TRPC3_ENST00000513531.1_Intron|TRPC3_ENST00000379645.3_Nonsense_Mutation_p.Q417*	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	332					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTATGGTCTGCTCCCTTAGG	0.547													5	26					0	0	0	0	A	122836027	G	A	122836027	4	1	242	1	0	0	0	0	0	1	0	0	16674	1328	46	4	1552	4	TRPC3	4	122836027	Nonsense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	12612882	122836027	68318249	44	43735											
KIAA1109	84162	broad.mit.edu	37	chr4	123249348	123249348	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgaaggatcatgttctgtGttcagttctcccaaaactcc	10	13	8	10	0	4	1	2	1	2	0	6	2	5	2	2	1	1	3	2	1	3	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:123249348G>C	ENST00000264501.4	+	66	11458	c.11085G>C	c.(11083-11085)gtG>gtC	p.V3695V	KIAA1109_ENST00000388738.3_Silent_p.V3695V			Q2LD37	K1109_HUMAN	KIAA1109	3695					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CATGTTCTGTGTTCAGTTCTC	0.438													8	65					0	0	0	0	C	123249348	G	C	123249348	2	2	242	1	0	0	0	0	0	0	0	1	8259	1364	48	4		4	KIAA1109	4	123249348	Silent	SNP	G	TCGA-CV-5978-01A-11D-1683-08	413321	123249348	67904928	45	43736											
PCDH10	57575	broad.mit.edu	37	chr4	134072460	134072460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgactgaccgcgactcagagGagaatgggcaggtgcagtgc	10	6	16	9	2	1	4	1	2	0	2	1	6	1	4	1	3	2	2	1	3	1	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:134072460G>A	ENST00000264360.4	+	1	1991	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	389	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGACTCAGAGGAGAATGGGCA	0.597													15	111					0	0	0	0	A	134072460	G	A	134072460	3	1	242	1	0	0	0	0	1	0	0	0	11578	1175	41	2	1167	2	PCDH10	4	134072460	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	10823112	134072460	57081816	46	43737											
INPP4B	8821	broad.mit.edu	37	chr4	143191916	143191916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgccaaccactttgccaCcatctgaagttctgcaacaa	11	10	7	13	0	2	1	0	1	2	0	2	1	2	1	4	1	5	2	4	1	4	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:143191916C>G	ENST00000513000.1	-	11	948	c.515G>C	c.(514-516)gGt>gCt	p.G172A	INPP4B_ENST00000509777.1_Missense_Mutation_p.G172A|INPP4B_ENST00000262992.4_Missense_Mutation_p.G172A|INPP4B_ENST00000508116.1_Missense_Mutation_p.G172A|INPP4B_ENST00000308502.4_Missense_Mutation_p.G172A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	172					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CACTTTGCCACCATCTGAAGT	0.448													4	55					0	0	0	0	G	143191916	C	G	143191916	3	3	242	1	0	0	0	0	1	0	0	0	7806	507	18	4	2327	4	INPP4B	4	143191916	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	9119456	143191916	47962360	47	43738											
USP38	84640	broad.mit.edu	37	chr4	144135671	144135671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattaagttccgttgtggttCactctggtatatcctctgaa	8	17	8	8	1	3	1	1	1	2	0	5	1	5	1	2	2	0	4	2	2	5	7			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:144135671C>T	ENST00000307017.4	+	9	3048	c.2542C>T	c.(2542-2544)Cac>Tac	p.H848Y	USP38_ENST00000510377.1_Missense_Mutation_p.H848Y	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	848					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CGTTGTGGTTCACTCTGGTAT	0.413													7	38					0	0	0	0	T	144135671	C	T	144135671	3	4	242	1	0	0	0	0	1	0	0	0	17165	826	29	2	2576	2	USP38	4	144135671	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	943755	144135671	47018605	48	43739											
TKTL2	84076	broad.mit.edu	37	chr4	164394370	164394370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagattgtccaagttgtagtGggaggcaaaagcaaaagcct	14	8	13	6	0	0	1	0	0	0	1	1	3	1	2	2	2	2	4	2	2	6	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:164394370G>C	ENST00000280605.3	-	1	677	c.517C>G	c.(517-519)Cac>Gac	p.H173D		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	173						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAGTTGTAGTGGGAGGCAAAA	0.552													9	52					0	0	0	0	C	164394370	G	C	164394370	3	2	242	1	0	0	0	0	1	0	0	0	16030	1348	47	4	1367	4	TKTL2	4	164394370	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	20258699	164394370	26759906	49	43740											
GPM6A	2823	broad.mit.edu	37	chr4	176622906	176622906	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccaggcatttgatacagCattcaaaacaccctgtagaa	14	8	6	13	0	1	2	1	1	0	1	1	2	1	2	3	1	3	3	3	1	5	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:176622906C>A	ENST00000280187.7	-	3	95	c.50G>T	c.(49-51)tGc>tTc	p.C17F	GPM6A_ENST00000515090.1_Missense_Mutation_p.C10F|GPM6A_ENST00000506894.1_Missense_Mutation_p.C6F|GPM6A_ENST00000393658.2_Missense_Mutation_p.C17F	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	17						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TTTGATACAGCATTCAAAACA	0.428													8	73					0.000157383	0.000173616	1	0	A	176622906	C	A	176622906	3	1	242	1	0	0	0	0	1	0	0	0	6664	710	25	4	810	4	GPM6A	4	176622906	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	12228536	176622906	14531370	50	43741											
WDR17	116966	broad.mit.edu	37	chr4	177071267	177071267	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatattagacaggaaatagaAaaactaactgctaattctca	19	10	6	6	0	1	2	1	0	1	2	2	4	1	3	0	1	3	1	0	1	8	6			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:177071267A>G	ENST00000393643.2	+	15	2373	c.2121A>G	c.(2119-2121)gaA>gaG	p.E707E	WDR17_ENST00000507824.2_Silent_p.E714E|WDR17_ENST00000280190.4_Silent_p.E731E|WDR17_ENST00000508596.1_Silent_p.E707E	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	731										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGGAAATAGAAAAACTAACTG	0.348													8	29					0	0	0	0	G	177071267	A	G	177071267	2	3	242	1	0	0	0	0	0	0	0	1	17373	11	1	5		5	WDR17	4	177071267	Silent	SNP	A	TCGA-CV-5978-01A-11D-1683-08	448361	177071267	14083009	51	43742											
CTNND2	1501	broad.mit.edu	37	chr5	10992697	10992697	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagacacgcgcacaggggaGatggagggcgtgcgggagga	10	2	22	7	4	0	2	0	0	0	2	0	7	0	5	0	7	1	1	0	7	0	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:10992697G>C	ENST00000304623.8	-	19	3366	c.3177C>G	c.(3175-3177)atC>atG	p.I1059M	CTNND2_ENST00000359640.2_Missense_Mutation_p.I1001M|CTNND2_ENST00000458100.2_Missense_Mutation_p.I626M|CTNND2_ENST00000503622.1_Missense_Mutation_p.I722M|CTNND2_ENST00000511377.1_Missense_Mutation_p.I968M|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1059					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCACAGGGGAGATGGAGGGCG	0.577													31	59					0	0	0	0	C	10992697	G	C	10992697	3	2	242	1	0	0	0	0	1	0	0	0	4052	932	33	2	516	2	CTNND2	5	10992697	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08		10992697	169922563	52	43743											
CTNND2	1501	broad.mit.edu	37	chr5	11111052	11111052	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccattggcctcgccacagAgtagcccgtccagctcgtcc	6	8	10	17	3	0	1	0	0	0	1	4	1	2	1	6	1	3	2	6	1	1	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:11111052A>C	ENST00000304623.8	-	14	2570	c.2381T>G	c.(2380-2382)cTc>cGc	p.L794R	CTNND2_ENST00000359640.2_Missense_Mutation_p.L794R|CTNND2_ENST00000458100.2_Missense_Mutation_p.L361R|CTNND2_ENST00000503622.1_Missense_Mutation_p.L457R|CTNND2_ENST00000511377.1_Missense_Mutation_p.L703R|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	794					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCGCCACAGAGTAGCCCGTC	0.552													34	224					0	0	0	0	C	11111052	A	C	11111052	3	2	242	1	0	0	0	0	1	0	0	0	4052	304	11	5	1332	5	CTNND2	5	11111052	Missense_Mutation	SNP	A	TCGA-CV-5978-01A-11D-1683-08	118355	11111052	169804208	53	43744											
CTNND2	1501	broad.mit.edu	37	chr5	11565132	11565132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctacgatctgccgttcagCctccagctctcgggtcagcc	5	9	11	16	3	4	0	2	0	2	0	6	1	5	0	4	2	5	3	4	2	1	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:11565132C>T	ENST00000304623.8	-	3	400	c.211G>A	c.(211-213)Gct>Act	p.A71T	CTNND2_ENST00000359640.2_Missense_Mutation_p.A71T|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000511377.1_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	71					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCCGTTCAGCCTCCAGCTCT	0.502													6	38					0	0	0	0	T	11565132	C	T	11565132	3	4	242	1	0	0	0	0	1	0	0	0	4052	739	26	4	3546	4	CTNND2	5	11565132	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	454080	11565132	169350128	54	43745											
DNAH5	1767	broad.mit.edu	37	chr5	13717426	13717426	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcatgcgcggcagtacctTtttgacatccatgtcatcca	9	11	8	13	2	1	1	1	1	0	0	3	1	3	1	3	1	3	3	3	1	1	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:13717426T>G	ENST00000265104.4	-	73	12807	c.12703A>C	c.(12703-12705)Aag>Cag	p.K4235Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4235					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCAGTACCTTTTTGACATCC	0.507									Kartagener syndrome				3	18					0	0	0	0	G	13717426	T	G	13717426	3	3	242	1	0	0	0	0	1	0	0	0	4641	1850	64	5	1199	5	DNAH5	5	13717426	Missense_Mutation	SNP	T	TCGA-CV-5978-01A-11D-1683-08	2152294	13717426	167197834	55	43746											
DNAH5	1767	broad.mit.edu	37	chr5	13788883	13788883	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgtcaattccacaatcCaccaagagttttttctcttc	10	16	4	11	0	2	1	1	0	1	1	6	1	4	1	3	0	0	1	3	0	4	6			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:13788883C>T	ENST00000265104.4	-	51	8693	c.8589G>A	c.(8587-8589)gtG>gtA	p.V2863V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2863					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCCACAATCCACCAAGAGTT	0.413									Kartagener syndrome				38	86					0	0	0	0	T	13788883	C	T	13788883	2	4	242	1	0	0	0	0	0	0	0	1	4641	581	21	4		4	DNAH5	5	13788883	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08	71457	13788883	167126377	56	43747											
DNAH5	1767	broad.mit.edu	37	chr5	13864670	13864670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccagcagcgggcaacactCgctgaaatcatcaatgatct	12	9	8	12	2	3	2	2	2	1	0	5	2	4	2	1	1	3	3	1	1	3	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:13864670C>T	ENST00000265104.4	-	28	4536	c.4432G>A	c.(4432-4434)Gag>Aag	p.E1478K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1478	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGCAACACTCGCTGAAATCA	0.527									Kartagener syndrome				9	45					0	0	0	0	T	13864670	C	T	13864670	3	4	242	1	0	0	0	0	1	0	0	0	4641	893	31	1	9650	1	DNAH5	5	13864670	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	75787	13864670	167050590	57	43748											
DNAH5	1767	broad.mit.edu	37	chr5	13885171	13885171	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattccttgtaactttcagAagagcatccatgttctgatg	10	15	8	8	0	2	3	1	1	1	2	4	3	4	3	2	0	2	4	2	0	3	6			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:13885171A>C	ENST00000265104.4	-	19	3014	c.2910T>G	c.(2908-2910)ctT>ctG	p.L970L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	970	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAACTTTCAGAAGAGCATCCA	0.418									Kartagener syndrome				21	83					0	0	0	0	C	13885171	A	C	13885171	2	2	242	1	0	0	0	0	0	0	0	1	4641	233	9	5		5	DNAH5	5	13885171	Silent	SNP	A	TCGA-CV-5978-01A-11D-1683-08	20501	13885171	167030089	58	43749											
CDH18	1016	broad.mit.edu	37	chr5	19721468	19721468	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactaacctgttttagggtCgacggagaagtagggttgtc	9	11	14	7	2	0	1	0	0	0	1	2	3	0	1	1	3	1	4	1	3	4	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:19721468C>A	ENST00000507958.1	-	7	1621	c.631G>T	c.(631-633)Gac>Tac	p.D211Y	CDH18_ENST00000506372.1_Missense_Mutation_p.D211Y|CDH18_ENST00000274170.4_Missense_Mutation_p.D211Y|CDH18_ENST00000511273.1_Missense_Mutation_p.D211Y|CDH18_ENST00000502796.1_Missense_Mutation_p.D211Y|CDH18_ENST00000382275.1_Missense_Mutation_p.D211Y			Q13634	CAD18_HUMAN	cadherin 18, type 2	211	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D211N(1)		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)					GTTTTAGGGTCGACGGAGAAG	0.448													30	72					9.65021e-13	1.31158e-12	1	0	A	19721468	C	A	19721468	3	1	242	1	0	0	0	0	1	0	0	0	3132	884	31	3	1777	3	CDH18	5	19721468	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	5836297	19721468	161193792	59	43750											
CDH6	1004	broad.mit.edu	37	chr5	31318062	31318062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccctgcctcctatctccCcatggtgaggggctcacact	5	11	8	17	0	3	1	1	1	2	0	6	1	4	1	5	3	1	1	5	3	1	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:31318062C>A	ENST00000514738.1	+	11	2178	c.1748C>A	c.(1747-1749)cCc>cAc	p.P583H	CDH6_ENST00000265071.2_Intron			P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	0	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCTATCTCCCCATGGTGAGG	0.532													8	76					3.09899e-07	3.73701e-07	1	0	A	31318062	C	A	31318062	3	1	242	1	0	0	0	0	1	0	0	0	3143	638	22	4		4	CDH6	5	31318062	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	11596594	31318062	149597198	60	43751											
PCDHGB3	56102	broad.mit.edu	37	chr5	140750005	140750005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccagcagggcagaggcGaatgctatttctcttcctgc	7	9	13	12	1	1	1	0	0	1	1	3	2	2	1	2	3	3	3	2	3	2	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:140750005G>T	ENST00000576222.1	+	1	175	c.44G>T	c.(43-45)cGa>cTa	p.R15L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAGAGGCGAATGCTATTT	0.552													17	31					1.15088e-07	1.40156e-07	1	0	T	140750005	G	T	140750005	3	4	242	1	0	0	0	0	1	0	0	0	11635	1058	37	3	46	3	PCDHGB3	5	140750005	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	109431943	140750005	40165255	61	43752											
HIST1H3H	8357	broad.mit.edu	37	chr6	27777865	27777865	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaggcatggcgcgtacgaAgcagactgctcgcaagtcca	11	6	13	11	4	0	2	0	1	0	1	2	3	1	2	1	2	3	5	1	2	4	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:27777865A>T	ENST00000369163.2	+	1	24	c.14A>T	c.(13-15)aAg>aTg	p.K5M		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	5					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						GCGCGTACGAAGCAGACTGCT	0.567													20	35					0	0	0	0	T	27777865	A	T	27777865	3	4	242	1	0	0	0	0	1	0	0	0	7212	72	3	5	16	5	HIST1H3H	6	27777865	Missense_Mutation	SNP	A	TCGA-CV-5978-01A-11D-1683-08		27777865	143337202	62	43753											
SNRPC	6631	broad.mit.edu	37	chr6	34741320	34741320	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccatgatggtgcccactcgGcccggaatgactcgaccaga	9	6	11	15	3	0	3	0	2	0	1	2	5	0	4	4	3	1	0	4	3	1	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:34741320G>A	ENST00000374017.3	+	5	803	c.516G>A	c.(514-516)cgG>cgA	p.R172R	SNRPC_ENST00000244520.5_Silent_p.R151R|SNRPC_ENST00000374018.1_Silent_p.R110R			P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	151					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						TGCCCACTCGGCCCGGAATGA	0.557													10	47					0	0	0	0	A	34741320	G	A	34741320	2	1	242	1	0	0	0	0	0	0	0	1	14951	1190	42	4		4	SNRPC	6	34741320	Silent	SNP	G	TCGA-CV-5978-01A-11D-1683-08	6963455	34741320	136373747	63	43754											
KIF6	221458	broad.mit.edu	37	chr6	39507934	39507934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaattcacgtctatccatgCcagccaagtggagagcctcc	10	9	9	13	1	2	2	1	1	1	1	4	3	4	2	5	1	3	0	5	1	3	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:39507934C>T	ENST00000287152.7	-	13	1584	c.1490G>A	c.(1489-1491)gGc>gAc	p.G497D	KIF6_ENST00000373213.4_Missense_Mutation_p.G336D|KIF6_ENST00000373215.3_Missense_Mutation_p.G497D|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373216.3_Missense_Mutation_p.G497D	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	497					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.G497D(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCTATCCATGCCAGCCAAGTG	0.468													4	197					0	0	0	0	T	39507934	C	T	39507934	3	4	242	1	0	0	0	0	1	0	0	0	8359	739	26	4	998	4	KIF6	6	39507934	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	4766614	39507934	131607133	64	43755											
ZNF318	24149	broad.mit.edu	37	chr6	43325349	43325349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgatatggggactataatCagatcgatgcaggaaagttt	14	11	11	5	1	1	2	1	1	0	1	2	5	1	4	0	3	1	2	0	3	4	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:43325349C>T	ENST00000361428.2	-	3	780	c.703G>A	c.(703-705)Gat>Aat	p.D235N	ZNF318_ENST00000318149.3_Missense_Mutation_p.D235N	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	235					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGACTATAATCAGATCGATGC	0.458													13	91					0	0	0	0	T	43325349	C	T	43325349	3	4	242	1	0	0	0	0	1	0	0	0	17931	826	29	2	6168	2	ZNF318	6	43325349	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	3817415	43325349	127789718	65	43756											
POLR1C	9533	broad.mit.edu	37	chr6	43488440	43488440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcaccctgcttgagcccGtggaaggggaggcagctgag	9	6	15	11	1	1	2	1	2	0	0	1	4	1	4	2	4	3	3	2	4	1	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:43488440G>A	ENST00000372389.3	+	7	821	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	POLR1C_ENST00000372344.2_Intron|POLR1C_ENST00000304004.3_Missense_Mutation_p.V245M	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	245					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCTTGAGCCCGTGGAAGGGGA	0.537													6	105					0	0	0	0	A	43488440	G	A	43488440	3	1	242	1	0	0	0	0	1	0	0	0	12283	1145	40	1	759	1	POLR1C	6	43488440	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	163091	43488440	127626627	66	43757											
MUT	4594	broad.mit.edu	37	chr6	49425487	49425487	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtatttcgaaccataaattCctttagtatatcattttgga	12	18	5	6	1	1	0	1	0	0	0	3	2	2	1	2	1	1	2	2	1	7	10			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:49425487C>A	ENST00000274813.3	-	3	797	c.670G>T	c.(670-672)Gaa>Taa	p.E224*		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	224					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCATAAATTCCTTTAGTATA	0.328													17	25					8.60227e-14	1.20236e-13	1	0	A	49425487	C	A	49425487	4	1	242	1	0	0	0	0	0	1	0	0	10061	864	30	2	1626	2	MUT	6	49425487	Nonsense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	5937047	49425487	121689580	67	43758											
RIMS1	22999	broad.mit.edu	37	chr6	72892001	72892001	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcatagaaagaagaccccagGgctttccgagcagaatggca	14	6	11	10	1	1	4	1	0	0	4	2	5	2	4	3	2	1	3	3	2	4	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:72892001G>C	ENST00000264839.7	+	6	827	c.827G>C	c.(826-828)gGg>gCg	p.G276A	RIMS1_ENST00000348717.5_Missense_Mutation_p.G276A|RIMS1_ENST00000521978.1_Missense_Mutation_p.G276A|RIMS1_ENST00000491071.2_Missense_Mutation_p.G276A|RIMS1_ENST00000518273.1_Missense_Mutation_p.G276A|RIMS1_ENST00000517960.1_Missense_Mutation_p.G276A|RIMS1_ENST00000522291.1_Missense_Mutation_p.G276A|RIMS1_ENST00000520567.1_Missense_Mutation_p.G276A			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	276					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)				AAGACCCCAGGGCTTTCCGAG	0.488													17	38					0	0	0	0	C	72892001	G	C	72892001	3	2	242	1	0	0	0	0	1	0	0	0	13452	1232	43	4	849	4	RIMS1	6	72892001	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	23466514	72892001	98223066	68	43759											
FUT9	10690	broad.mit.edu	37	chr6	96651233	96651233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaatgaaactactattctgGtgtgggtgtggccatttggg	8	15	13	5	0	1	1	0	1	1	0	1	1	1	1	1	4	2	0	1	4	4	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:96651233G>T	ENST00000302103.5	+	3	528	c.202G>T	c.(202-204)Gtg>Ttg	p.V68L		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	68					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TACTATTCTGGTGTGGGTGTG	0.438													15	61					4.7546e-09	5.93722e-09	1	0	T	96651233	G	T	96651233	3	4	242	1	0	0	0	0	1	0	0	0	6159	1261	44	4	204	4	FUT9	6	96651233	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	23759232	96651233	74463834	69	43760											
GRIK2	2898	broad.mit.edu	37	chr6	102074485	102074485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttttcaagtggaaaaccGtcacggttgtgtatgatgac	11	13	11	6	2	2	2	2	2	0	0	2	3	2	3	1	2	1	3	1	2	4	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:102074485G>T	ENST00000369138.1	+	3	1004	c.514G>T	c.(514-516)Gtc>Ttc	p.V172F	GRIK2_ENST00000369134.4_Missense_Mutation_p.V123F|GRIK2_ENST00000421544.1_Missense_Mutation_p.V172F|GRIK2_ENST00000413795.1_Missense_Mutation_p.V172F|GRIK2_ENST00000369137.3_Missense_Mutation_p.V172F|GRIK2_ENST00000358361.3_Missense_Mutation_p.V172F|GRIK2_ENST00000318991.6_Missense_Mutation_p.V172F	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	172					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTGGAAAACCGTCACGGTTGT	0.408													10	47					5.50884e-06	6.36232e-06	1	0	T	102074485	G	T	102074485	3	4	242	1	0	0	0	0	1	0	0	0	6824	1145	40	3	524	3	GRIK2	6	102074485	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	5423252	102074485	69040582	70	43761											
ZBTB24	9841	broad.mit.edu	37	chr6	109787534	109787534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagttgatatggctgtagCtgaagaatattcctgacctc	11	12	11	7	0	0	5	0	3	0	2	2	6	1	5	2	1	1	4	2	1	5	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:109787534C>A	ENST00000230122.3	-	7	1781	c.1614G>T	c.(1612-1614)caG>caT	p.Q538H		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ATGGCTGTAGCTGAAGAATAT	0.453													25	52					3.1745e-13	4.36272e-13	1	0	A	109787534	C	A	109787534	3	1	242	1	0	0	0	0	1	0	0	0	17626	796	28	4	483	4	ZBTB24	6	109787534	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	7713049	109787534	61327533	71	43762											
C6orf118	168090	broad.mit.edu	37	chr6	165706833	165706833	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacagacaggcagccacaCtgcagcagctgaaataatga	15	6	10	10	0	0	4	0	3	0	1	0	4	0	4	1	1	4	4	1	1	2	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:165706833C>G	ENST00000543069.1	-	6	1458	c.877G>C	c.(877-879)Gtg>Ctg	p.V293L	C6orf118_ENST00000230301.8_Intron			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	0										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GGCAGCCACACTGCAGCAGCT	0.498													10	47					0	0	0	0	G	165706833	C	G	165706833	3	3	242	1	0	0	0	0	1	0	0	0	2344	580	20	4		4	C6orf118	6	165706833	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	55919299	165706833	5408234	72	43763											
DNAH11	8701	broad.mit.edu	37	chr7	21678667	21678667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acttgacattctctcaaaagGagctcagcctaaacaggtaa	15	9	7	10	0	3	1	2	1	1	0	4	2	3	2	1	2	3	2	1	2	5	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:21678667G>A	ENST00000328843.6	+	28	4974	c.4943G>A	c.(4942-4944)gGa>gAa	p.G1648E	DNAH11_ENST00000409508.3_Missense_Mutation_p.G1643E			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1648	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTCAAAAGGAGCTCAGCCT	0.403									Kartagener syndrome				22	17					0	0	0	0	A	21678667	G	A	21678667	3	1	242	1	0	0	0	0	1	0	0	0	4636	1174	41	2	5053	2	DNAH11	7	21678667	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08		21678667	137459996	73	43764											
SRRM3	222183	broad.mit.edu	37	chr7	75912371	75912371	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctactcgcccatccgcaAgcggcgccgggactcgccaa	8	4	11	18	6	0	0	0	0	0	0	3	1	1	1	4	2	3	2	4	2	3	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:75912371A>G	ENST00000388802.4	+	14	1894	c.1685A>G	c.(1684-1686)aAg>aGg	p.K562R	SRRM3_ENST00000326382.8_Missense_Mutation_p.K562R					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						CCCATCCGCAAGCGGCGCCGG	0.761													4	11					0	0	0	0	G	75912371	A	G	75912371	3	3	242	1	0	0	0	0	1	0	0	0	15260	72	3	5	1735	5	SRRM3	7	75912371	Missense_Mutation	SNP	A	TCGA-CV-5978-01A-11D-1683-08	54233704	75912371	83226292	74	43765											
CACNA2D1	781	broad.mit.edu	37	chr7	81626562	81626562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttactggctcctgagatttgGggttctacacagaaaacaat	12	12	9	8	0	1	2	0	1	1	2	2	3	2	2	1	3	3	2	1	3	5	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:81626562G>T	ENST00000356860.3	-	19	1933	c.1595C>A	c.(1594-1596)cCc>cAc	p.P532H	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.P551H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	551	Cache.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTGAGATTTGGGGTTCTACAC	0.333													23	89					5.45024e-15	7.88682e-15	1	0	T	81626562	G	T	81626562	3	4	242	1	0	0	0	0	1	0	0	0	2573	1232	43	4	1764	4	CACNA2D1	7	81626562	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	5714191	81626562	77512101	75	43766											
CUX1	1523	broad.mit.edu	37	chr7	101747722	101747723	+	Frame_Shift_Ins	INS	-	-	T																															aacagaagttacagaatgacINStttgcagaaaaggagaggtg																										TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:101747722_101747723insT	ENST00000360264.3	+	6	566_567	c.546_547insT	c.(544-549)gattgcfs	p.C183fs	CUX1_ENST00000393824.3_Frame_Shift_Ins_p.C146fs|CUX1_ENST00000437600.4_Frame_Shift_Ins_p.C183fs|CUX1_ENST00000425244.2_Frame_Shift_Ins_p.C137fs|CUX1_ENST00000556210.1_Frame_Shift_Ins_p.C172fs|CUX1_ENST00000292535.7_Frame_Shift_Ins_p.C172fs|CUX1_ENST00000549414.2_Frame_Shift_Ins_p.C172fs|CUX1_ENST00000547394.2_Frame_Shift_Ins_p.C167fs|CUX1_ENST00000292538.4_Frame_Shift_Ins_p.C183fs|CUX1_ENST00000550008.2_Frame_Shift_Ins_p.C172fs|CUX1_ENST00000546411.2_Frame_Shift_Ins_p.C172fs|CUX1_ENST00000560541.1_3'UTR	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	172					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TACAGAATGACTTTGCAGAAAA	0.421													22	131	---	---	---	---					T	101747723	-	T	101747722	7	5	242	1	0	1	1	0	0	0	0	0	4096	564	20	0	602	0	CUX1	7	101747722	Frame_Shift_Ins	INS	-	TCGA-CV-5978-01A-11D-1683-08	20121160	101747722	57390941	76	43767											
COG5	10466	broad.mit.edu	37	chr7	106898718	106898718	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttaataaaatagttacCtttgttactgattggtgcaa	15	15	6	5	0	0	1	0	1	0	0	0	1	0	1	1	1	4	3	1	1	8	7			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:106898718C>T	ENST00000393603.2	-	15	2050	c.1779_splice	c.e15+1	p.K593_splice	COG5_ENST00000297135.3_Splice_Site_p.K593_splice|COG5_ENST00000347053.3_Splice_Site_p.K593_splice	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	592					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						aaataGTTACCTTTGTTACTG	0.313													8	80					0	0	0	0	T	106898718	C	T	106898718	5	4	242	1	0	0	0	0	0	0	1	0	3691	695	24	4	839	4	COG5	7	106898718	Splice_Site	SNP	C	TCGA-CV-5978-01A-11D-1683-08	5150996	106898718	52239945	77	43768											
OR6B1	135946	broad.mit.edu	37	chr7	143701665	143701665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctctcctgcacagacatGtccataactgagttggtaga	12	11	8	10	0	1	3	0	1	1	2	4	3	3	3	2	1	2	3	2	1	3	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:143701665G>T	ENST00000408922.2	+	1	644	c.576G>T	c.(574-576)atG>atT	p.M192I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCACAGACATGTCCATAACTG	0.458													13	95					0.0167234	0.0172855	1	0	T	143701665	G	T	143701665	3	4	242	1	0	0	0	0	1	0	0	0	11258	1377	48	4	578	4	OR6B1	7	143701665	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	36802947	143701665	15436998	78	43769											
SSPO	23145	broad.mit.edu	37	chr7	149522074	149522074	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatgccagtggagtctgTgggggccatggagcccctgc	6	8	15	12	0	2	0	1	0	1	0	2	2	2	2	4	4	3	0	4	4	0	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:149522074T>C	ENST00000378016.2	+	0	13861							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGAGTCTGTGGGGGCCATG	0.647													3	10					0	0	0	0	C	149522074	T	C	149522074	1	2	242	0	1	0	0	0	0	0	0	0	15279	1696	59	5		5	SSPO	7	149522074	RNA	SNP	T	TCGA-CV-5978-01A-11D-1683-08	5820409	149522074	9616589	79	43770											
CSMD1	64478	broad.mit.edu	37	chr8	2855570	2855570	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctactccactggccgttGctccgacactgggctcgaga	6	8	13	14	3	0	1	0	0	0	1	3	3	2	1	3	3	2	4	3	3	1	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:2855570G>A	ENST00000602557.1	-	55	8898	c.8343C>T	c.(8341-8343)agC>agT	p.S2781S	CSMD1_ENST00000602723.1_Silent_p.S2723S|CSMD1_ENST00000542608.1_Silent_p.S2722S|CSMD1_ENST00000537824.1_Silent_p.S2780S|CSMD1_ENST00000400186.3_Silent_p.S2723S|CSMD1_ENST00000520002.1_Silent_p.S2781S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2781	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTGGCCGTTGCTCCGACACT	0.547													6	40					0	0	0	0	A	2855570	G	A	2855570	2	1	242	1	0	0	0	0	0	0	0	1	3976	1310	46	4		4	CSMD1	8	2855570	Silent	SNP	G	TCGA-CV-5978-01A-11D-1683-08		2855570	143508452	80	43771											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998840	8998840	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatccagaacaaagctctCgctctctgctgtcgtcaagc	12	9	7	13	2	3	1	1	0	2	1	7	1	4	1	1	0	4	3	1	0	5	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:8998840C>A	ENST00000310455.3	-	2	472	c.322G>T	c.(322-324)Gag>Tag	p.E108*	PPP1R3B_ENST00000519699.1_Nonsense_Mutation_p.E108*	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	108					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ACAAAGCTCTCGCTCTCTGCT	0.478													12	56					5.50884e-06	6.36232e-06	1	0	A	8998840	C	A	8998840	4	1	242	1	0	0	0	0	0	1	0	0	12448	893	31	3	539	3	PPP1R3B	8	8998840	Nonsense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	6143270	8998840	137365182	81	43772											
DLC1	10395	broad.mit.edu	37	chr8	12943411	12943411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacacaaatgtccaaaaGattttgtgtaccattctggc	12	12	7	10	0	1	1	0	0	1	1	2	1	2	1	2	1	2	2	2	1	4	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:12943411G>T	ENST00000276297.4	-	18	4905	c.4496C>A	c.(4495-4497)tCt>tAt	p.S1499Y	DLC1_ENST00000520226.1_Missense_Mutation_p.S988Y|DLC1_ENST00000512044.2_Missense_Mutation_p.S1096Y|DLC1_ENST00000358919.2_Missense_Mutation_p.S1062Y|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1499	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ATGTCCAAAAGATTTTGTGTA	0.378													20	49					1.01871e-10	1.31206e-10	1	0	T	12943411	G	T	12943411	3	4	242	1	0	0	0	0	1	0	0	0	4587	942	33	2	94	2	DLC1	8	12943411	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	3944571	12943411	133420611	82	43773											
MSR1	4481	broad.mit.edu	37	chr8	15978072	15978072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatctccaccctcccctcGtgagggccgctcccaccgac	6	7	8	20	3	1	1	0	1	1	0	5	2	3	1	7	1	0	2	7	1	1	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:15978072G>T	ENST00000262101.5	-	9	1198	c.1077C>A	c.(1075-1077)caC>caA	p.H359Q	MSR1_ENST00000445506.2_Missense_Mutation_p.H377Q|MSR1_ENST00000350896.3_Intron|MSR1_ENST00000355282.2_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	359	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.H359H(3)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCCTCCCCTCGTGAGGGCCGC	0.483													26	65					1.75199e-13	2.43496e-13	1	0	T	15978072	G	T	15978072	3	4	242	1	0	0	0	0	1	0	0	0	9956	1136	40	3	286	3	MSR1	8	15978072	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	3034661	15978072	130385950	83	43774											
TEX15	56154	broad.mit.edu	37	chr8	30705035	30705035	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcctgctttttgtctccaTatatgttctctatgttgttt	6	22	5	8	0	2	0	0	0	2	0	5	0	3	0	2	0	1	4	2	0	4	8			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:30705035T>C	ENST00000256246.2	-	1	1573	c.1499A>G	c.(1498-1500)tAt>tGt	p.Y500C		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	500										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTGTCTCCATATATGTTCTC	0.308													18	88					0	0	0	0	C	30705035	T	C	30705035	3	2	242	1	0	0	0	0	1	0	0	0	15873	1406	49	5	6886	5	TEX15	8	30705035	Missense_Mutation	SNP	T	TCGA-CV-5978-01A-11D-1683-08	14726963	30705035	115658987	84	43775											
LETM2	137994	broad.mit.edu	37	chr8	38261968	38261968	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttttgctcctgtcccgcAccttctacctgatagatgtg	5	14	7	15	1	1	2	0	1	1	1	3	2	3	2	5	0	2	2	5	0	2	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:38261968A>T	ENST00000379957.4	+	8	1289	c.1162A>T	c.(1162-1164)Acc>Tcc	p.T388S	LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000527710.1_Missense_Mutation_p.T174S|LETM2_ENST00000524874.1_Missense_Mutation_p.T340S|LETM2_ENST00000523983.2_Missense_Mutation_p.T341S|LETM2_ENST00000297720.5_Missense_Mutation_p.T293S	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	388						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CCTGTCCCGCACCTTCTACCT	0.557													20	45					0	0	0	0	T	38261968	A	T	38261968	3	4	242	1	0	0	0	0	1	0	0	0	8788	159	6	5	895	5	LETM2	8	38261968	Missense_Mutation	SNP	A	TCGA-CV-5978-01A-11D-1683-08	7556933	38261968	108102054	85	43776											
RB1CC1	9821	broad.mit.edu	37	chr8	53570560	53570560	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaagaattgaatttgcctTttgttcactcagtagatctg	11	16	8	6	0	3	4	2	2	1	2	3	4	3	4	1	0	1	2	1	0	4	6			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:53570560T>A	ENST00000025008.5	-	14	2441	c.1918A>T	c.(1918-1920)Aag>Tag	p.K640*	RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.K640*|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.K640*	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	640					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GAATTTGCCTTTTGTTCACTC	0.378													26	84					0	0	0	0	A	53570560	T	A	53570560	4	1	242	1	0	0	0	0	0	1	0	0	13181	1850	64	5	2910	5	RB1CC1	8	53570560	Nonsense_Mutation	SNP	T	TCGA-CV-5978-01A-11D-1683-08	15308592	53570560	92793462	86	43777											
KCNB2	9312	broad.mit.edu	37	chr8	73848938	73848938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaaggaacggaagcatcGtttctatgaacttaaaagat	17	9	8	7	2	1	2	0	1	1	1	2	4	1	4	1	2	3	2	1	2	8	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:73848938G>A	ENST00000523207.1	+	3	1936	c.1348G>A	c.(1348-1350)Gtt>Att	p.V450I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	450			V -> I (in a colorectal cancer sample; somatic mutation).		regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.V450I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CGGAAGCATCGTTTCTATGAA	0.473													30	89					0	0	0	0	A	73848938	G	A	73848938	3	1	242	1	0	0	0	0	1	0	0	0	8066	1145	40	1	1354	1	KCNB2	8	73848938	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	20278378	73848938	72515084	87	43778											
ODF1	4956	broad.mit.edu	37	chr8	103564144	103564144	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctattccaagcgatcacgCtcttgcggcctgtgtgatct	6	13	10	12	3	3	1	1	1	2	0	4	2	4	1	2	1	3	2	2	1	2	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:103564144C>G	ENST00000285402.3	+	1	345	c.189C>G	c.(187-189)cgC>cgG	p.R63R		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	63	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGCGATCACGCTCTTGCGGCC	0.493													42	110					0	0	0	0	G	103564144	C	G	103564144	2	3	242	1	0	0	0	0	0	0	0	1	10897	784	28	4		4	ODF1	8	103564144	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08	29715206	103564144	42799878	88	43779											
CSMD3	114788	broad.mit.edu	37	chr8	113585863	113585863	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagcacctagtagatgagtCgttttatcttttccatcata	12	15	6	8	1	2	2	1	1	1	1	4	2	3	2	2	0	1	3	2	0	5	7			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:113585863C>T	ENST00000297405.5	-	24	4153	c.3909G>A	c.(3907-3909)acG>acA	p.T1303T	CSMD3_ENST00000352409.3_Silent_p.T1303T|CSMD3_ENST00000455883.2_Silent_p.T1199T|CSMD3_ENST00000343508.3_Silent_p.T1263T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1303	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAGATGAGTCGTTTTATCTT	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	77					0	0	0	0	T	113585863	C	T	113585863	2	4	242	1	0	0	0	0	0	0	0	1	3978	871	31	1		1	CSMD3	8	113585863	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08	10021719	113585863	32778159	89	43780											
CSMD3	114788	broad.mit.edu	37	chr8	113599379	113599379	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaacctgaatactataaatGcattcatggttgttttcata	13	16	6	6	0	2	2	2	2	0	0	2	2	2	2	1	1	3	3	1	1	7	8			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:113599379G>T	ENST00000297405.5	-	23	4045	c.3801C>A	c.(3799-3801)tgC>tgA	p.C1267*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.C1267*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.C1163*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.C1227*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1267	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACTATAAATGCATTCATGGT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	66					2.21704e-12	2.96408e-12	1	0	T	113599379	G	T	113599379	4	4	242	1	0	0	0	0	0	1	0	0	3978	1311	46	4	7518	4	CSMD3	8	113599379	Nonsense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	13516	113599379	32764643	90	43781											
ENPP2	5168	broad.mit.edu	37	chr8	120629736	120629736	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattaggcatgactttgcTgcctttcttcatgtatgatg	9	17	8	7	0	2	2	1	2	1	0	2	2	2	2	1	1	2	3	1	1	4	6			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:120629736T>A	ENST00000427067.2	-	6	715	c.535A>T	c.(535-537)Agc>Tgc	p.S179C	ENPP2_ENST00000075322.6_Missense_Mutation_p.S183C|ENPP2_ENST00000259486.6_Missense_Mutation_p.S183C|ENPP2_ENST00000522826.1_Missense_Mutation_p.S183C			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	183					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGACTTTGCTGCCTTTCTTC	0.398													9	27					0	0	0	0	A	120629736	T	A	120629736	3	1	242	1	0	0	0	0	1	0	0	0	5168	1580	55	5	2363	5	ENPP2	8	120629736	Missense_Mutation	SNP	T	TCGA-CV-5978-01A-11D-1683-08	7030357	120629736	25734286	91	43782											
FAM135B	51059	broad.mit.edu	37	chr8	139164844	139164844	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcagcaccatcttccccTcttgatctattccctttcct	6	16	3	16	0	3	1	0	1	3	0	6	1	6	1	5	0	2	2	5	0	2	6			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:139164844T>A	ENST00000395297.1	-	13	2044	c.1874A>T	c.(1873-1875)gAg>gTg	p.E625V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	625										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATCTTCCCCTCTTGATCTAT	0.463										HNSCC(54;0.14)			12	107					0	0	0	0	A	139164844	T	A	139164844	3	1	242	1	0	0	0	0	1	0	0	0	5490	1551	54	5	2378	5	FAM135B	8	139164844	Missense_Mutation	SNP	T	TCGA-CV-5978-01A-11D-1683-08	18535108	139164844	7199178	92	43783											
KIAA1161	57462	broad.mit.edu	37	chr9	34370855	34370855	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccgggtaatcggtgagcAgcaccggcgtcttgtcgaaa	9	7	14	11	6	1	1	0	1	1	0	3	3	1	1	2	3	2	3	2	3	2	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:34370855A>C	ENST00000297625.7	-	2	2210	c.1985T>G	c.(1984-1986)cTg>cGg	p.L662R		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	696					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ATCGGTGAGCAGCACCGGCGT	0.637													13	15					0	0	0	0	C	34370855	A	C	34370855	3	2	242	1	0	0	0	0	1	0	0	0	8262	188	7	5	61	5	KIAA1161	9	34370855	Missense_Mutation	SNP	A	TCGA-CV-5978-01A-11D-1683-08		34370855	106842576	93	43784											
KIF27	55582	broad.mit.edu	37	chr9	86506407	86506407	+	Frame_Shift_Del	DEL	T	T	-																															aagaagttgttgttctattaTtttttcattctttgtagaag																										TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:86506407delT	ENST00000297814.2	-	6	1755	c.1612delA	c.(1612-1614)tafs	p.I539fs	KIF27_ENST00000334204.2_Frame_Shift_Del_p.I539fs|KIF27_ENST00000413982.1_Frame_Shift_Del_p.I539fs	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	539					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTTCTATTATTTTTTCATTC	0.303													7	30	---	---	---	---					-	86506407	T	-	86506407	7	5	242	1	0	1	0	1	0	0	0	0	8347	1493	52	0	2645	0	KIF27	9	86506407	Frame_Shift_Del	DEL	T	TCGA-CV-5978-01A-11D-1683-08	52135552	86506407	54707024	94	43785											
TGFBR1	7046	broad.mit.edu	37	chr9	101907135	101907135	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcagccacagataccatTgatattgctccaaaccacag	14	9	6	12	0	1	2	1	1	0	1	2	3	2	2	4	0	4	1	4	0	3	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:101907135T>C	ENST00000374994.4	+	6	1212	c.1095T>C	c.(1093-1095)atT>atC	p.I365I	TGFBR1_ENST00000374990.2_Silent_p.I288I|TGFBR1_ENST00000552516.1_Silent_p.I369I|TGFBR1_ENST00000550253.1_Silent_p.I296I	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	365	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CAGATACCATTGATATTGCTC	0.348													15	56					0	0	0	0	C	101907135	T	C	101907135	2	2	242	1	0	0	0	0	0	0	0	1	15915	1800	63	5		5	TGFBR1	9	101907135	Silent	SNP	T	TCGA-CV-5978-01A-11D-1683-08	15400728	101907135	39306296	95	43786											
C9orf43	257169	broad.mit.edu	37	chr9	116185750	116185750	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctctctgggctcaatccGaagcgttacctcaggatcta	9	11	8	13	2	4	0	2	0	2	0	6	2	5	1	3	2	3	2	3	2	5	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:116185750G>T	ENST00000288462.4	+	7	1074	c.628G>T	c.(628-630)Gaa>Taa	p.E210*	C9orf43_ENST00000374165.1_Nonsense_Mutation_p.E210*	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	210								p.E210K(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						GGCTCAATCCGAAGCGTTACC	0.498													4	35					0.00909568	0.00948109	1	0	T	116185750	G	T	116185750	4	4	242	1	0	0	0	0	0	1	0	0	2508	1059	37	3	650	3	C9orf43	9	116185750	Nonsense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	14278615	116185750	25027681	96	43787											
OR1N2	138882	broad.mit.edu	37	chr9	125315468	125315468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggaaggtttttatctgcGcagatcacacgaactacaag	13	10	9	9	2	2	1	1	0	1	1	2	3	2	2	0	2	3	2	0	2	5	4	rs141317564		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:125315468G>A	ENST00000373688.2	+	1	78	c.20G>A	c.(19-21)cGc>cAc	p.R7H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TTTTATCTGCGCAGATCACAC	0.433													9	66					0	0	0	0	A	125315468	G	A	125315468	3	1	242	1	0	0	0	0	1	0	0	0	11041	1087	38	1	22	1	OR1N2	9	125315468	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	9129718	125315468	15897963	97	43788											
DENND1A	57706	broad.mit.edu	37	chr9	126219701	126219701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaattgagaagatctaatCgaccatcaataaactataga	18	9	7	7	2	2	3	1	1	1	3	3	6	2	4	1	1	1	0	1	1	8	5	rs139898166		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:126219701C>T	ENST00000373624.2	-	15	1313	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	DENND1A_ENST00000373620.3_Missense_Mutation_p.R371Q|DENND1A_ENST00000394219.3_Missense_Mutation_p.R339Q|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000373618.1_Missense_Mutation_p.R339Q|DENND1A_ENST00000542603.1_Missense_Mutation_p.R113Q|DENND1A_ENST00000394215.2_Missense_Mutation_p.R341Q	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	371	dDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AAGATCTAATCGACCATCAAT	0.433													7	98					0	0	0	0	T	126219701	C	T	126219701	3	4	242	1	0	0	0	0	1	0	0	0	4463	884	31	1	2056	1	DENND1A	9	126219701	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	904233	126219701	14993730	98	43789											
CIZ1	25792	broad.mit.edu	37	chr9	130941207	130941207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatatgtctgtgtctggaCctgcttctgcagctgcagct	5	14	12	10	0	3	0	0	0	3	0	3	2	3	2	1	2	5	5	1	2	1	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:130941207C>T	ENST00000538431.1	-	8	1526	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	CIZ1_ENST00000393608.1_Missense_Mutation_p.V427I|CIZ1_ENST00000541172.1_Missense_Mutation_p.V326I|CIZ1_ENST00000372948.3_Intron|CIZ1_ENST00000372954.1_Intron|CIZ1_ENST00000372938.5_Missense_Mutation_p.V427I|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000357558.5_Intron|CIZ1_ENST00000325721.8_Missense_Mutation_p.V398I|CIZ1_ENST00000277465.4_Intron	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	427	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TGTGTCTGGACCTGCTTCTGC	0.627													5	119					0	0	0	0	T	130941207	C	T	130941207	3	4	242	1	0	0	0	0	1	0	0	0	3471	507	18	4	1457	4	CIZ1	9	130941207	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	4721506	130941207	10272224	99	43790											
FIBCD1	84929	broad.mit.edu	37	chr9	133799269	133799269	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcggggccgggagccTgagggaggcaaggctgtcag	7	5	19	10	2	2	1	1	1	1	0	3	3	2	3	2	6	1	2	2	6	1	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:133799269T>A	ENST00000372338.4	-	4	955		c.e4-2		FIBCD1_ENST00000448616.1_Splice_Site|FIBCD1_ENST00000372337.2_Splice_Site|FIBCD1_ENST00000253018.4_Splice_Site	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1						signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCCGGGAGCCTGAGGGAGGCA	0.647													8	64					0	0	0	0	A	133799269	T	A	133799269	5	1	242	1	0	0	0	0	0	0	1	0	5929	1594	55	5	690	5	FIBCD1	9	133799269	Splice_Site	SNP	T	TCGA-CV-5978-01A-11D-1683-08	2858062	133799269	7414162	100	43791											
COL5A1	1289	broad.mit.edu	37	chr9	137642722	137642722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaagccattctccagcaGgccagggtgagtactgctgg	8	7	14	12	1	1	1	0	1	1	0	2	1	1	1	3	3	4	4	3	3	2	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:137642722G>T	ENST00000371817.3	+	13	2070	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	552	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTCTCCAGCAGGCCAGGGTGA	0.632													10	14					0.0692343	0.0706707	1	0	T	137642722	G	T	137642722	3	4	242	1	0	0	0	0	1	0	0	0	3726	991	35	4	1706	4	COL5A1	9	137642722	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	3843453	137642722	3570709	101	43792											
PTCHD3	374308	broad.mit.edu	37	chr10	27703080	27703080	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttccgactccgattcctGagattcctggtaccactgcg	6	11	9	15	3	0	1	0	1	0	1	4	4	4	1	6	1	2	1	6	1	1	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr10:27703080G>A	ENST00000438700.3	-	1	217	c.100C>T	c.(100-102)Cag>Tag	p.Q34*		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	34					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCCGATTCCTGAGATTCCTGG	0.682													19	112					0	0	0	0	A	27703080	G	A	27703080	4	1	242	1	0	0	0	0	0	1	0	0	12813	1299	45	2	2219	2	PTCHD3	10	27703080	Nonsense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08		27703080	107831667	102	43793											
AGAP6	414189	broad.mit.edu	37	chr10	51748544	51748544	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgaccagcagcaggggtcGgtgtgtccctctgaatctga	7	11	13	10	1	2	3	0	3	2	0	4	3	3	3	2	3	2	2	2	3	1	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr10:51748544G>T	ENST00000374056.4	+	1	467	c.69G>T	c.(67-69)tcG>tcT	p.S23S	AGAP6_ENST00000412531.3_Silent_p.S23S			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	23					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AGCAGGGGTCGGTGTGTCCCT	0.607													30	38					2.08457e-15	3.03434e-15	1	0	T	51748544	G	T	51748544	2	4	242	1	0	0	0	0	0	0	0	1	372	1103	39	3		3	AGAP6	10	51748544	Silent	SNP	G	TCGA-CV-5978-01A-11D-1683-08	24045464	51748544	83786203	103	43794											
GRID1	2894	broad.mit.edu	37	chr10	87482808	87482808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaggaaggcagcaaggttgGctgtgtaggaggagcacaca	12	6	17	6	0	0	1	0	1	0	0	0	4	0	4	0	6	2	6	0	6	3	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr10:87482808G>T	ENST00000327946.7	-	12	2034	c.1949C>A	c.(1948-1950)gCc>gAc	p.A650D	GRID1_ENST00000536331.1_Missense_Mutation_p.A221D	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	650						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGCAAGGTTGGCTGTGTAGGA	0.562										Multiple Myeloma(13;0.14)			7	21					8.12818e-05	9.04766e-05	1	0	T	87482808	G	T	87482808	3	4	242	1	0	0	0	0	1	0	0	0	6821	1203	42	4	1100	4	GRID1	10	87482808	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	35734264	87482808	48051939	104	43795											
HPSE2	60495	broad.mit.edu	37	chr10	100904156	100904156	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcacttcgaacaatgTctacaaaaagaaagaaagaa	22	6	5	8	1	2	3	1	0	1	3	3	4	2	3	0	0	3	0	0	0	9	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr10:100904156T>A	ENST00000370552.3	-	3	508	c.448_splice	c.e3-1	p.D150_splice	HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370546.1_Splice_Site_p.D150_splice|HPSE2_ENST00000370549.1_Splice_Site_p.D150_splice	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	150					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TCGAACAATGTCTACAAAAAG	0.388													12	58					0	0	0	0	A	100904156	T	A	100904156	5	1	242	1	0	0	0	0	0	0	1	0	7395	1681	58	5	1407	5	HPSE2	10	100904156	Splice_Site	SNP	T	TCGA-CV-5978-01A-11D-1683-08	13421348	100904156	34630591	105	43796											
WNT8B	7479	broad.mit.edu	37	chr10	102239717	102239717	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagtttgcctgggaccgctgGaactgccctgagagagccct	7	8	13	13	1	0	2	0	1	0	1	0	5	0	4	4	2	4	2	4	2	1	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr10:102239717G>C	ENST00000343737.5	+	3	317	c.189G>C	c.(187-189)tgG>tgC	p.W63C		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	63					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GGGACCGCTGGAACTGCCCTG	0.557													16	29					0	0	0	0	C	102239717	G	C	102239717	3	2	242	1	0	0	0	0	1	0	0	0	17493	1183	41	2	199	2	WNT8B	10	102239717	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	1335561	102239717	33295030	106	43797											
NLRP6	171389	broad.mit.edu	37	chr11	284380	284380	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcctagcctggccgcaGtgcagggtgcagacggtcag	7	5	18	11	2	1	1	1	0	0	1	1	2	1	1	3	4	3	3	3	4	1	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:284380G>C	ENST00000534750.1	+	6	2554	c.2349G>C	c.(2347-2349)caG>caC	p.Q783H	NLRP6_ENST00000312165.5_Missense_Mutation_p.Q784H	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	784						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTGGCCGCAGTGCAGGGTGC	0.701													11	17					0	0	0	0	C	284380	G	C	284380	3	2	242	1	0	0	0	0	1	0	0	0	10551	1020	36	4	2374	4	NLRP6	11	284380	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08		284380	134722136	107	43798											
OR10A3	26496	broad.mit.edu	37	chr11	7960207	7960207	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcgtaagctatagatgagCggattgagcagaggggtaag	12	10	15	4	2	0	4	0	2	0	2	1	5	0	5	0	3	3	4	0	3	4	6			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:7960207C>T	ENST00000360759.3	-	1	934	c.861G>A	c.(859-861)ccG>ccA	p.P287P		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TATAGATGAGCGGATTGAGCA	0.413													19	42					0	0	0	0	T	7960207	C	T	7960207	2	4	242	1	0	0	0	0	0	0	0	1	10962	755	27	1		1	OR10A3	11	7960207	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08	7675827	7960207	127046309	108	43799											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159486	18159486	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggatccacctggattGgaaagtcttattttgtcatg	9	15	9	8	0	2	0	1	0	1	0	4	3	4	3	3	3	0	0	3	3	2	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:18159486G>C	ENST00000396275.2	+	3	1098	c.737G>C	c.(736-738)tGg>tCg	p.W246S		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	246						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CACCTGGATTGGAAAGTCTTA	0.507													5	52					0	0	0	0	C	18159486	G	C	18159486	3	2	242	1	0	0	0	0	1	0	0	0	9838	1357	47	4	739	4	MRGPRX3	11	18159486	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	10199279	18159486	116847030	109	43800											
OR5F1	338674	broad.mit.edu	37	chr11	55761981	55761981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggatcatcccgagatttcCcagtactgtaagtgtataaa	13	11	9	8	1	1	1	1	0	0	1	3	4	3	2	2	1	1	3	2	1	5	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:55761981C>T	ENST00000278409.1	-	1	120	c.121G>A	c.(121-123)Gga>Aga	p.G41R		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCGAGATTTCCCAGTACTGTA	0.433													17	42					0	0	0	0	T	55761981	C	T	55761981	3	4	242	1	0	0	0	0	1	0	0	0	11229	632	22	4	826	4	OR5F1	11	55761981	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	37602495	55761981	79244535	110	43801											
OR9G4	283189	broad.mit.edu	37	chr11	56510760	56510760	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcaggcggaatgtattGgcagtatgggctatggcatt	11	11	14	5	1	0	0	0	0	0	0	0	1	0	1	0	5	1	6	0	5	5	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:56510760G>A	ENST00000302957.3	-	1	527	c.528C>T	c.(526-528)gcC>gcT	p.A176A		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGAATGTATTGGCAGTATGGG	0.448													27	66					0	0	0	0	A	56510760	G	A	56510760	2	1	242	1	0	0	0	0	0	0	0	1	11322	1335	47	4		4	OR9G4	11	56510760	Silent	SNP	G	TCGA-CV-5978-01A-11D-1683-08	748779	56510760	78495756	111	43802											
GLYATL1	92292	broad.mit.edu	37	chr11	58715400	58715400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtgctggtggattcctggCctgaatatcagatggttatt	8	14	13	6	0	1	2	1	1	0	1	2	3	2	3	2	5	1	2	2	5	3	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:58715400C>A	ENST00000300079.5	+	4	291	c.241C>A	c.(241-243)Cct>Act	p.P81T	GLYATL1_ENST00000317391.4_Missense_Mutation_p.P50T|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	50						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GGATTCCTGGCCTGAATATCA	0.547													12	49					1.5842e-08	1.94857e-08	1	0	A	58715400	C	A	58715400	3	1	242	1	0	0	0	0	1	0	0	0	6531	739	26	4	255	4	GLYATL1	11	58715400	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	2204640	58715400	76291116	112	43803											
MRGPRF	116535	broad.mit.edu	37	chr11	68777336	68777336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaccttgttcctgttgcCgggatgggcctcccaggagc	5	11	12	13	1	0	0	0	0	0	0	2	2	2	2	5	3	3	2	5	3	1	4	rs143408398		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:68777336C>T	ENST00000309099.6	-	2	416	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	MRGPRF_ENST00000441623.1_Missense_Mutation_p.G12S|MRGPRF_ENST00000320913.6_Missense_Mutation_p.G12S	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	12						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTCCTGTTGCCGGGATGGGCC	0.672													6	85					0	0	0	0	T	68777336	C	T	68777336	3	4	242	1	0	0	0	0	1	0	0	0	9835	652	23	1	1005	1	MRGPRF	11	68777336	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	10061936	68777336	66229180	113	43804											
DLG2	1740	broad.mit.edu	37	chr11	83770475	83770475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttccaccgctttactgtGggaaacctctgacacatcaa	10	10	8	13	1	2	1	1	1	1	0	3	2	3	2	3	2	2	2	3	2	3	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:83770475G>A	ENST00000398309.2	-	6	957	c.487C>T	c.(487-489)Cac>Tac	p.H163Y	DLG2_ENST00000376104.2_Missense_Mutation_p.H268Y|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.H102Y|DLG2_ENST00000532653.1_Missense_Mutation_p.H163Y|DLG2_ENST00000524982.1_Missense_Mutation_p.H163Y|DLG2_ENST00000531015.1_Missense_Mutation_p.H130Y|DLG2_ENST00000418306.2_Missense_Mutation_p.H112Y|DLG2_ENST00000398301.2_Missense_Mutation_p.H202Y|DLG2_ENST00000280241.8_Missense_Mutation_p.H202Y|DLG2_ENST00000543673.1_Missense_Mutation_p.H268Y|DLG2_ENST00000376106.3_5'UTR	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	163	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCTTTACTGTGGGAAACCTCT	0.473													7	44					0	0	0	0	A	83770475	G	A	83770475	3	1	242	1	0	0	0	0	1	0	0	0	4592	1348	47	4	2247	4	DLG2	11	83770475	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	14993139	83770475	51236041	114	43805											
NOX4	50507	broad.mit.edu	37	chr11	89135493	89135493	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaacacaaaattaatctgaCctgtggaaaattagcttgga	17	10	7	7	0	1	1	0	1	1	0	1	3	1	3	1	2	2	1	1	2	7	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:89135493C>A	ENST00000535633.1	-	9	1085		c.e9+1		NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000531342.1_Intron	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|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)				ATTAATCTGACCTGTGGAAAA	0.353													10	46					0.000673444	0.000723438	1	0	A	89135493	C	A	89135493	5	1	242	1	0	0	0	0	0	0	1	0	10628	521	18	4	929	4	NOX4	11	89135493	Splice_Site	SNP	C	TCGA-CV-5978-01A-11D-1683-08	5365018	89135493	45871023	115	43806											
NAALAD2	10003	broad.mit.edu	37	chr11	89896824	89896824	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttattatttttttggtCaacagggaacaaatatgtat	12	18	7	4	0	2	0	1	0	1	0	2	1	2	1	0	2	2	2	0	2	7	8			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:89896824C>A	ENST00000525171.1	+	8	1068	c.1038C>A	c.(1036-1038)gtC>gtA	p.V346V	NAALAD2_ENST00000534061.1_Intron|NAALAD2_ENST00000321955.4_Intron|NAALAD2_ENST00000375944.3_Intron			Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	0	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTTTTTGGTCAACAGGGAAC	0.348													12	25					7.03913e-09	8.74558e-09	1	0	A	89896824	C	A	89896824	2	1	242	1	0	0	0	0	0	0	0	1	10198	841	29	2		2	NAALAD2	11	89896824	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08	761331	89896824	45109692	116	43807											
PDZD3	79849	broad.mit.edu	37	chr11	119059095	119059095	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaggtggacccgggactGccagccaagaaggctgggat	9	5	18	9	1	0	1	0	0	0	1	0	5	0	5	3	6	2	1	3	6	2	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:119059095G>T	ENST00000531114.1	+	6	1641	c.1092G>T	c.(1090-1092)ctG>ctT	p.L364L	PDZD3_ENST00000525131.1_Silent_p.L285L|PDZD3_ENST00000355547.5_Silent_p.L298L|PDZD3_ENST00000392817.2_Silent_p.L364L|PDZD3_ENST00000322712.4_Silent_p.L284L			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	364	PDZ 3.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		ACCCGGGACTGCCAGCCAAGA	0.642													13	55					1.3612e-06	1.60218e-06	1	0	T	119059095	G	T	119059095	2	4	242	1	0	0	0	0	0	0	0	1	11773	1306	46	4		4	PDZD3	11	119059095	Silent	SNP	G	TCGA-CV-5978-01A-11D-1683-08	29162271	119059095	15947421	117	43808											
TMEM225	338661	broad.mit.edu	37	chr11	123753941	123753941	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcattgcagtgcattcTggtaatgaaatatcttcgat	11	13	10	7	2	2	1	0	1	2	0	3	3	2	1	0	2	2	4	0	2	3	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:123753941T>C	ENST00000375026.2	-	4	798	c.582A>G	c.(580-582)ccA>ccG	p.P194P		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	194						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						CAGTGCATTCTGGTAATGAAA	0.428													23	73					0	0	0	0	C	123753941	T	C	123753941	2	2	242	1	0	0	0	0	0	0	0	1	16241	1567	55	5		5	TMEM225	11	123753941	Silent	SNP	T	TCGA-CV-5978-01A-11D-1683-08	4694846	123753941	11252575	118	43809											
CD163	9332	broad.mit.edu	37	chr12	7649408	7649408	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttggtttggttttaacttaCcagaacatgtcacgccagca	10	14	8	9	1	1	1	1	0	0	1	1	1	1	1	2	2	4	3	2	2	3	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:7649408C>G	ENST00000359156.4	-	5	1302		c.e5+1		CD163_ENST00000432237.2_Splice_Site|CD163_ENST00000396620.3_Splice_Site|CD163_ENST00000541972.1_Splice_Site	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule						acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTTTAACTTACCAGAACATGT	0.413													9	73					0	0	0	0	G	7649408	C	G	7649408	5	3	242	1	0	0	0	0	0	0	1	0	2996	521	18	4	2418	4	CD163	12	7649408	Splice_Site	SNP	C	TCGA-CV-5978-01A-11D-1683-08		7649408	126202487	119	43810											
PRH1	5554	broad.mit.edu	37	chr12	11034867	11034867	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctgtggaggtccttgTgggcggcccccttggggagg	2	9	18	12	1	0	0	0	0	0	0	1	2	1	2	5	7	1	0	5	7	0	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:11034867T>A	ENST00000428168.2	-	4	505	c.468A>T	c.(466-468)ccA>ccT	p.P156P	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	156						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		GAGGTCCTTGTGGGCGGCCCC	0.572													32	147					0	0	0	0	A	11034867	T	A	11034867	2	1	242	1	0	0	0	0	0	0	0	1	12562	1683	59	5		5	PRH1	12	11034867	Silent	SNP	T	TCGA-CV-5978-01A-11D-1683-08	3385459	11034867	122817028	120	43811											
ATF7IP	55729	broad.mit.edu	37	chr12	14613818	14613818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaacaacgttccttctGtgcccagtcctagtattcaa	12	11	5	13	1	2	0	1	0	1	0	4	0	4	0	4	0	4	2	4	0	6	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:14613818G>A	ENST00000544627.1	+	9	2892	c.2572G>A	c.(2572-2574)Gtg>Atg	p.V858M	ATF7IP_ENST00000543189.1_Missense_Mutation_p.V849M|ATF7IP_ENST00000536444.1_Missense_Mutation_p.V849M|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Missense_Mutation_p.V850M|ATF7IP_ENST00000261168.4_Missense_Mutation_p.V850M			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	850					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CGTTCCTTCTGTGCCCAGTCC	0.478													31	113					0	0	0	0	A	14613818	G	A	14613818	3	1	242	1	0	0	0	0	1	0	0	0	1091	1377	48	4	2578	4	ATF7IP	12	14613818	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	3578951	14613818	119238077	121	43812											
PLEKHA5	54477	broad.mit.edu	37	chr12	19475473	19475473	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacgcttgagcaagctttgCtatcagccagccaagagata	13	8	9	11	1	1	2	1	1	0	1	1	3	1	2	2	0	5	4	2	0	4	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:19475473C>T	ENST00000538714.1	+	17	2189	c.2185C>T	c.(2185-2187)Cta>Tta	p.L729L	PLEKHA5_ENST00000424268.1_Silent_p.L602L|PLEKHA5_ENST00000543806.1_Silent_p.L590L|PLEKHA5_ENST00000355397.3_Silent_p.L729L|PLEKHA5_ENST00000429027.2_Silent_p.L774L|PLEKHA5_ENST00000299275.6_Silent_p.L671L|PLEKHA5_ENST00000359180.3_Silent_p.L671L|PLEKHA5_ENST00000539256.1_Silent_p.L429L|PLEKHA5_ENST00000317589.4_Silent_p.L671L	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	676							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GCAAGCTTTGCTATCAGCCAG	0.363													28	47					0	0	0	0	T	19475473	C	T	19475473	2	4	242	1	0	0	0	0	0	0	0	1	12131	796	28	4		4	PLEKHA5	12	19475473	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08	4861655	19475473	114376422	122	43813											
SYT10	341359	broad.mit.edu	37	chr12	33532866	33532866	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcatccagtcctgttctGcacactcctatgacctcatt	8	13	5	15	0	3	1	2	1	1	0	6	1	6	1	4	0	2	3	4	0	1	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:33532866G>T	ENST00000228567.3	-	6	1697	c.1401C>A	c.(1399-1401)tgC>tgA	p.C467*	SYT10_ENST00000535526.1_Nonsense_Mutation_p.C286*	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	467	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GTCCTGTTCTGCACACTCCTA	0.453													21	98					1.96292e-10	2.51499e-10	1	0	T	33532866	G	T	33532866	4	4	242	1	0	0	0	0	0	1	0	0	15557	1311	46	4	178	4	SYT10	12	33532866	Nonsense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	14057393	33532866	100319029	123	43814											
LRRK2	120892	broad.mit.edu	37	chr12	40734242	40734242	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaatggggataaaaacatCagagggcacaccaggtaggt	16	6	13	6	0	1	2	1	0	0	2	1	3	1	3	1	5	1	2	1	5	6	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:40734242C>G	ENST00000298910.7	+	41	6153	c.6095C>G	c.(6094-6096)tCa>tGa	p.S2032*		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2032	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATAAAAACATCAGAGGGCACA	0.443													17	72					0	0	0	0	G	40734242	C	G	40734242	4	3	242	1	0	0	0	0	0	1	0	0	9097	838	29	2	6257	2	LRRK2	12	40734242	Nonsense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	7201376	40734242	93117653	124	43815											
HOXC6	3223	broad.mit.edu	37	chr12	54422697	54422697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggatgcagcgaatgaattCgcacagtggtgagttttaca	11	11	12	7	2	0	2	0	2	0	0	1	4	0	3	0	2	3	3	0	2	3	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:54422697C>T	ENST00000394331.3	+	2	1856	c.146C>T	c.(145-147)tCg>tTg	p.S49L	HOXC4_ENST00000303406.4_Intron|HOXC5_ENST00000512206.1_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.S131L	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	131					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGAATGAATTCGCACAGTGGT	0.473													4	79					0	0	0	0	T	54422697	C	T	54422697	3	4	242	1	0	0	0	0	1	0	0	0	7365	893	31	1	394	1	HOXC6	12	54422697	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	13688455	54422697	79429198	125	43816											
NXPH4	11247	broad.mit.edu	37	chr12	57619381	57619381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtcgcaggtgtgcttcaccGagcacacgcagagccaggcc	8	5	13	15	4	1	1	1	0	0	1	2	2	1	1	3	2	3	4	3	2	0	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:57619381G>A	ENST00000349394.5	+	2	953	c.778G>A	c.(778-780)Gag>Aag	p.E260K		NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	260	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GTGCTTCACCGAGCACACGCA	0.567													16	24					0	0	0	0	A	57619381	G	A	57619381	3	1	242	1	0	0	0	0	1	0	0	0	10864	1059	37	1	784	1	NXPH4	12	57619381	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	3196684	57619381	76232514	126	43817											
ALX1	8092	broad.mit.edu	37	chr12	85680630	85680630	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatttttattaaataattaGgtttggtttcaaaatcgaag	15	18	6	2	1	1	0	1	0	0	0	2	1	1	0	0	2	0	2	0	2	9	9			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:85680630G>C	ENST00000316824.3	+	3	686		c.e3-1			NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1						brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		taaataattaGGTTTGGTTTC	0.318													4	13					0	0	0	0	C	85680630	G	C	85680630	5	2	242	1	0	0	0	0	0	0	1	0	556	1014	35	4	541	4	ALX1	12	85680630	Splice_Site	SNP	G	TCGA-CV-5978-01A-11D-1683-08	28061249	85680630	48171265	127	43818											
KIAA1033	23325	broad.mit.edu	37	chr12	105515902	105515902	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taattttcctcaaggttactGaaatctgtccatcacaatcc	12	14	4	11	0	3	1	2	1	1	0	6	1	6	1	3	1	1	1	3	1	5	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:105515902G>A	ENST00000332180.5	+	10	759	c.672G>A	c.(670-672)ctG>ctA	p.L224L		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	224					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CAAGGTTACTGAAATCTGTCC	0.279													7	64					0	0	0	0	A	105515902	G	A	105515902	2	1	242	1	0	0	0	0	0	0	0	1	8257	1277	45	2		2	KIAA1033	12	105515902	Silent	SNP	G	TCGA-CV-5978-01A-11D-1683-08	19835272	105515902	28335993	128	43819											
ISCU	23479	broad.mit.edu	37	chr12	108959132	108959132	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggggaagattgtggatgcTaggtttaaaacatttggctg	12	12	14	3	0	0	1	0	0	0	1	0	3	0	3	0	5	2	3	0	5	5	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:108959132T>C	ENST00000535729.1	+	3	286	c.264T>C	c.(262-264)gcT>gcC	p.A88A	ISCU_ENST00000431221.2_Silent_p.A88A|ISCU_ENST00000338291.4_Silent_p.A63A|ISCU_ENST00000392807.4_Silent_p.A63A|ISCU_ENST00000311893.9_Silent_p.A88A|ISCU_ENST00000547005.1_Silent_p.A88A|ISCU_ENST00000539593.1_Silent_p.A88A			Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	88					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						TTGTGGATGCTAGGTTTAAAA	0.473													5	48					0	0	0	0	C	108959132	T	C	108959132	2	2	242	1	0	0	0	0	0	0	0	1	7905	1509	53	5		5	ISCU	12	108959132	Silent	SNP	T	TCGA-CV-5978-01A-11D-1683-08	3443230	108959132	24892763	129	43820											
ERCC5	2073	broad.mit.edu	37	chr13	103520608	103520608	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacctctcctaaaattctcGtaaggtcttttatttcttta	10	18	4	9	1	4	0	0	0	4	0	6	1	4	0	2	1	1	1	2	1	6	8			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr13:103520608G>C	ENST00000355739.4	+	12	4101		c.e12+1		BIVM-ERCC5_ENST00000602836.1_Splice_Site|ERCC5_ENST00000375954.1_Splice_Site	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TAAAATTCTCGTAAGGTCTTT	0.373			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				3	44					0	0	0	0	C	103520608	G	C	103520608	5	2	242	1	0	0	0	0	0	0	1	0	5254	1159	40	3	2725	3	ERCC5	13	103520608	Splice_Site	SNP	G	TCGA-CV-5978-01A-11D-1683-08		103520608	11649270	130	43821											
MYO16	23026	broad.mit.edu	37	chr13	109779811	109779811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaaacagcccccgcccaagCcaaagagggaccccaacacc	14	0	9	18	1	0	1	0	0	0	1	0	3	0	3	7	2	4	0	7	2	4	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr13:109779811C>A	ENST00000356711.2	+	31	4024	c.3898C>A	c.(3898-3900)Cca>Aca	p.P1300T	MYO16_ENST00000357550.2_Missense_Mutation_p.P1300T|MYO16_ENST00000457511.2_Missense_Mutation_p.P812T	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1300					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCGCCCAAGCCAAAGAGGGA	0.657													10	13					2.17888e-05	2.47006e-05	1	0	A	109779811	C	A	109779811	3	1	242	1	0	0	0	0	1	0	0	0	10134	739	26	4	4016	4	MYO16	13	109779811	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	6259203	109779811	5390067	131	43822											
G2E3	55632	broad.mit.edu	37	chr14	31071100	31071100	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtattatctacaattcaGgtaatttttttgtaattttg	10	20	8	3	0	2	0	1	0	1	0	2	0	2	0	0	3	1	3	0	3	6	11	rs60676717		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:31071100G>T	ENST00000206595.6	+	9	1031	c.877_splice	c.e9+1	p.G293_splice	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Splice_Site_p.G247_splice|G2E3_ENST00000553504.1_Splice_Site_p.G323_splice	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	293					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTACAATTCAGGTAATTTTTT	0.318													30	30					3.17567e-06	3.70244e-06	1	0	T	31071100	G	T	31071100	5	4	242	1	0	0	0	0	0	0	1	0	6188	1014	35	4	907	4	G2E3	14	31071100	Splice_Site	SNP	G	TCGA-CV-5978-01A-11D-1683-08		31071100	76278440	132	43823											
DACT1	51339	broad.mit.edu	37	chr14	59105250	59105250	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggaggagaacatcttgctGctaagaaagcaattggtagg	13	10	13	5	0	1	2	0	0	1	2	1	4	1	3	0	4	4	4	0	4	5	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:59105250G>T	ENST00000395153.3	+	1	477	c.330G>T	c.(328-330)ctG>ctT	p.L110L	DACT1_ENST00000395151.3_Intron|DACT1_ENST00000335867.4_Silent_p.L110L|DACT1_ENST00000556859.1_Intron|DACT1_ENST00000555845.1_Intron	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	110					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ACATCTTGCTGCTAAGAAAGC	0.687													5	10					5.9392e-07	7.05818e-07	1	0	T	59105250	G	T	59105250	2	4	242	1	0	0	0	0	0	0	0	1	4255	1306	46	4		4	DACT1	14	59105250	Silent	SNP	G	TCGA-CV-5978-01A-11D-1683-08	28034150	59105250	48244290	133	43824											
SLC8A3	6547	broad.mit.edu	37	chr14	70633619	70633619	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctaggacagcccgaggcaaGggaagactgttgaatattgc	12	7	14	8	1	0	2	0	1	0	1	0	5	0	4	1	3	2	3	1	3	5	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:70633619G>T	ENST00000381269.2	-	2	2274	c.1521C>A	c.(1519-1521)ccC>ccA	p.P507P	SLC8A3_ENST00000534137.1_Silent_p.P507P|SLC8A3_ENST00000528359.1_Silent_p.P507P|SLC8A3_ENST00000356921.2_Silent_p.P507P|SLC8A3_ENST00000357887.3_Silent_p.P507P	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	507					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCCGAGGCAAGGGAAGACTGT	0.498													29	34					4.87955e-14	6.85926e-14	1	0	T	70633619	G	T	70633619	2	4	242	1	0	0	0	0	0	0	0	1	14796	987	35	4		4	SLC8A3	14	70633619	Silent	SNP	G	TCGA-CV-5978-01A-11D-1683-08	11528369	70633619	36715921	134	43825											
ATG2B	55102	broad.mit.edu	37	chr14	96797952	96797952	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggccttgattcatccacTgaaacagatctagatgggag	12	10	10	9	0	3	4	2	2	1	2	4	5	4	5	2	2	1	0	2	2	2	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:96797952T>C	ENST00000359933.4	-	11	2384	c.1491A>G	c.(1489-1491)tcA>tcG	p.S497S		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	497										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATTCATCCACTGAAACAGATC	0.308													11	50					0	0	0	0	C	96797952	T	C	96797952	2	2	242	1	0	0	0	0	0	0	0	1	1098	1567	55	5		5	ATG2B	14	96797952	Silent	SNP	T	TCGA-CV-5978-01A-11D-1683-08	26164333	96797952	10551588	135	43826											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32926132	32926132	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttaattccacttcttctAgagtggaatcaggaaaagca	13	14	7	7	0	3	1	1	0	2	1	4	3	4	3	1	2	1	1	1	2	5	7			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:32926132A>G	ENST00000361627.3	+	10	1957		c.e10-1		ARHGAP11A_ENST00000565905.1_Splice_Site|ARHGAP11A_ENST00000543522.1_Splice_Site|ARHGAP11A_ENST00000567348.1_Splice_Site|ARHGAP11A_ENST00000563864.1_Splice_Site	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CACTTCTTCTAGAGTGGAATC	0.333													6	8					0	0	0	0	G	32926132	A	G	32926132	5	3	242	1	0	0	0	0	0	0	1	0	865	434	15	5	1272	5	ARHGAP11A	15	32926132	Splice_Site	SNP	A	TCGA-CV-5978-01A-11D-1683-08		32926132	69605260	136	43827											
ZWILCH	55055	broad.mit.edu	37	chr15	66821212	66821212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgaagcatgacactgctgCagtcgatcgttccgtcaagc	9	10	10	12	3	1	2	1	2	0	0	4	3	2	2	1	0	4	4	1	0	2	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:66821212C>T	ENST00000307897.5	+	11	1372	c.992C>T	c.(991-993)gCa>gTa	p.A331V	ZWILCH_ENST00000565627.1_Missense_Mutation_p.A217V|ZWILCH_ENST00000446801.2_Missense_Mutation_p.A217V|ZWILCH_ENST00000535141.2_Missense_Mutation_p.A217V	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	331					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						GACACTGCTGCAGTCGATCGT	0.408													7	37					0	0	0	0	T	66821212	C	T	66821212	3	4	242	1	0	0	0	0	1	0	0	0	18339	710	25	4	1034	4	ZWILCH	15	66821212	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	33895080	66821212	35710180	137	43828											
C15orf59	388135	broad.mit.edu	37	chr15	74032449	74032449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggctggggagggcttgtGggggcctgcatgggcctctg	2	8	23	8	0	1	0	0	0	1	0	1	1	1	1	2	8	1	3	2	8	0	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:74032449G>A	ENST00000569673.1	-	3	1895	c.691C>T	c.(691-693)Cac>Tac	p.H231Y	C15orf59_ENST00000379822.4_Missense_Mutation_p.H231Y|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	231										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGGCTTGTGGGGGCCTGCA	0.652													3	47					0	0	0	0	A	74032449	G	A	74032449	3	1	242	1	0	0	0	0	1	0	0	0	1819	1348	47	4	194	4	C15orf59	15	74032449	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	7211237	74032449	28498943	138	43829											
ADAMTS7	11173	broad.mit.edu	37	chr15	79080663	79080663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggagacatgatgaaaggtCgtttcccaacgggctcacag	11	8	13	9	2	1	3	1	2	0	1	3	4	2	3	1	3	1	2	1	3	2	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:79080663C>T	ENST00000388820.4	-	8	1442	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	411	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GATGAAAGGTCGTTTCCCAAC	0.612													39	79					0	0	0	0	T	79080663	C	T	79080663	3	4	242	1	0	0	0	0	1	0	0	0	271	884	31	1	3896	1	ADAMTS7	15	79080663	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	5048214	79080663	23450729	139	43830											
NTRK3	4916	broad.mit.edu	37	chr15	88472648	88472648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccatccacaaggatcattGcatctggcccatgggccctg	8	9	10	14	0	2	0	1	0	1	0	4	1	4	1	4	3	1	1	4	3	1	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:88472648G>A	ENST00000394480.1	-	17	2228	c.1907C>T	c.(1906-1908)gCa>gTa	p.A636V	NTRK3_ENST00000558676.1_Missense_Mutation_p.A628V|NTRK3_ENST00000557856.1_Missense_Mutation_p.A628V|NTRK3_ENST00000542733.2_Missense_Mutation_p.A538V|NTRK3_ENST00000357724.2_Missense_Mutation_p.A628V|NTRK3_ENST00000360948.2_Missense_Mutation_p.A636V|NTRK3_ENST00000355254.2_Missense_Mutation_p.A636V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	636	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGGATCATTGCATCTGGCCC	0.592			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			6	29					0	0	0	0	A	88472648	G	A	88472648	3	1	242	1	0	0	0	0	1	0	0	0	10779	1319	46	4	628	4	NTRK3	15	88472648	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	9391985	88472648	14058744	140	43831											
CRTC3	64784	broad.mit.edu	37	chr15	91185222	91185222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctggcaggcctgcctgaGgtcagcctgaacgtggacac	7	6	15	13	2	1	2	1	2	0	0	1	3	1	3	3	4	3	2	3	4	1	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:91185222G>T	ENST00000420329.2	+	15	1854	c.1707G>T	c.(1705-1707)gaG>gaT	p.E569D	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.E570D	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	570					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCCTGCCTGAGGTCAGCCTGA	0.562			T	MAML2	salivary gland mucoepidermoid								7	59					1.26484e-09	1.59565e-09	1	0	T	91185222	G	T	91185222	3	4	242	1	0	0	0	0	1	0	0	0	3931	991	35	4	1768	4	CRTC3	15	91185222	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	2712574	91185222	11346170	141	43832											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139838	3139838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccaggtgctcgctgcGccggaaggccttgccgcagt	5	6	15	15	4	0	0	0	0	0	0	1	1	0	1	5	4	3	3	5	4	1	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:3139838G>A	ENST00000252463.2	-	5	1519	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R396C|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R139C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	478					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TGCTCGCTGCGCCGGAAGGCC	0.731													3	9					0	0	0	0	A	3139838	G	A	3139838	3	1	242	1	0	0	0	0	1	0	0	0	18320	1087	38	1	749	1	ZSCAN10	16	3139838	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08		3139838	87214915	142	43833											
ERCC4	2072	broad.mit.edu	37	chr16	14024633	14024633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agactaaatccttagttcagGatttgaagatattacgaact	15	13	7	6	1	1	3	1	1	0	2	2	5	2	4	1	1	2	1	1	1	7	6			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:14024633G>A	ENST00000311895.7	+	5	868	c.859G>A	c.(859-861)Gat>Aat	p.D287N	ERCC4_ENST00000574781.1_3'UTR|CTD-2135D7.2_ENST00000570663.1_RNA|ERCC4_ENST00000575156.1_Missense_Mutation_p.D287N|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	287	Leucine-zipper 2.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CTTAGTTCAGGATTTGAAGAT	0.373			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				3	35					0	0	0	0	A	14024633	G	A	14024633	3	1	242	1	0	0	0	0	1	0	0	0	5253	1174	41	2	877	2	ERCC4	16	14024633	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	10884795	14024633	76330120	143	43834											
CPNE2	221184	broad.mit.edu	37	chr16	57180102	57180102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatgtccatcatcatcGtgggcgtgggcaatgcggac	7	9	13	12	3	2	0	2	0	0	0	4	1	3	1	2	3	2	1	2	3	1	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:57180102G>A	ENST00000535318.2	+	16	1769	c.1408G>A	c.(1408-1410)Gtg>Atg	p.V470M	CPNE2_ENST00000565951.1_3'UTR|CPNE2_ENST00000537605.1_Missense_Mutation_p.V368M|CPNE2_ENST00000290776.8_Missense_Mutation_p.V470M|CPNE2_ENST00000565874.1_Missense_Mutation_p.V470M			Q96FN4	CPNE2_HUMAN	copine II	470	VWFA.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CATCATCATCGTGGGCGTGGG	0.617													4	7					0	0	0	0	A	57180102	G	A	57180102	3	1	242	1	0	0	0	0	1	0	0	0	3842	1145	40	1	1462	1	CPNE2	16	57180102	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	43155469	57180102	33174651	144	43835											
CDH8	1006	broad.mit.edu	37	chr16	61891110	61891110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccataaactgggtcatcagCgtcggtcgcagtgacgttag	9	10	12	10	4	2	1	2	1	0	0	5	1	3	1	1	2	2	2	1	2	3	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:61891110C>A	ENST00000577390.1	-	4	1534	c.580G>T	c.(580-582)Gct>Tct	p.A194S	CDH8_ENST00000577730.1_Missense_Mutation_p.A194S|CDH8_ENST00000299345.6_Missense_Mutation_p.A194S|CDH8_ENST00000584337.1_Missense_Mutation_p.A194S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	194	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A194T(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGGTCATCAGCGTCGGTCGCA	0.383													18	52					7.07596e-05	7.91221e-05	1	0	A	61891110	C	A	61891110	3	1	242	1	0	0	0	0	1	0	0	0	3145	768	27	3	1855	3	CDH8	16	61891110	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	4711008	61891110	28463643	145	43836											
CMTM3	123920	broad.mit.edu	37	chr16	66642247	66642247	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttatctgctatgtggcGtcctcagcatctgccttcct	5	16	7	13	1	3	0	1	0	2	0	5	0	5	0	3	1	3	2	3	1	2	4	rs149684359		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:66642247G>A	ENST00000424011.2	+	3	709	c.183G>A	c.(181-183)gcG>gcA	p.A61A	CMTM3_ENST00000460097.1_5'UTR|CMTM3_ENST00000567572.1_Silent_p.A61A|CMTM3_ENST00000564060.1_Silent_p.A61A|CMTM3_ENST00000360086.4_Intron|CMTM3_ENST00000566121.1_5'UTR|CMTM3_ENST00000565922.1_Intron|CMTM3_ENST00000565666.1_5'UTR|CMTM3_ENST00000565003.1_5'UTR|CMTM3_ENST00000562707.1_Silent_p.A61A|CMTM3_ENST00000361909.4_Silent_p.A61A|CMTM3_ENST00000568477.1_5'UTR			Q96MX0	CKLF3_HUMAN	CKLF-like MARVEL transmembrane domain containing 3	61	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			central_nervous_system(1)|endometrium(1)|lung(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)		GCTATGTGGCGTCCTCAGCAT	0.527											OREG0023859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	119					0	0	0	0	A	66642247	G	A	66642247	2	1	242	1	0	0	0	0	0	0	0	1	3614	1132	40	1		1	CMTM3	16	66642247	Silent	SNP	G	TCGA-CV-5978-01A-11D-1683-08	4751137	66642247	23712506	146	43837											
DLG4	1742	broad.mit.edu	37	chr17	7106115	7106115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagaggttgtggctatttCatagggaatatctgaagagg	12	12	13	4	0	3	3	2	1	1	2	3	4	3	4	0	4	0	2	0	4	5	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr17:7106115C>T	ENST00000485100.1	-	8	925	c.885G>A	c.(883-885)atG>atA	p.M295I	DLG4_ENST00000399510.2_Intron|DLG4_ENST00000399506.2_Intron|DLG4_ENST00000302955.6_Intron			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	0					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GTGGCTATTTCATAGGGAATA	0.458													4	10					0	0	0	0	T	7106115	C	T	7106115	3	4	242	1	0	0	0	0	1	0	0	0	4594	841	29	2		2	DLG4	17	7106115	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08		7106115	74089095	147	43838											
TP53	7157	broad.mit.edu	37	chr17	7578416	7578416	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgggggcagcgcctcacaaCctccgtcatgtgctgtgact	6	9	13	13	2	2	1	2	1	0	0	3	1	3	1	3	2	3	2	3	2	1	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr17:7578416C>A	ENST00000420246.2	-	5	646	c.514G>T	c.(514-516)Gtt>Ttt	p.V172F	TP53_ENST00000455263.2_Missense_Mutation_p.V172F|TP53_ENST00000445888.2_Missense_Mutation_p.V172F|TP53_ENST00000359597.4_Missense_Mutation_p.V172F|TP53_ENST00000269305.4_Missense_Mutation_p.V172F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.V172F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	172	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V172F(14)|p.0?(8)|p.V172I(7)|p.E171fs*2(3)|p.V172fs*2(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V172_E180delVVRRCPHHE(1)|p.V40F(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.V79F(1)|p.E171_V172delEV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCCTCACAACCTCCGTCATG	0.662		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	32					7.01153e-11	9.07809e-11	1	0	A	7578416	C	A	7578416	3	1	242	1	0	0	0	0	1	0	0	0	16476	507	18	4	784	4	TP53	17	7578416	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	472301	7578416	73616794	148	43839											
DHRS7C	201140	broad.mit.edu	37	chr17	9674889	9674889	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgggaagaaggtgcggacGtacacggcggccttggggat	8	6	18	9	5	0	1	0	0	0	1	1	4	1	4	2	7	2	1	2	7	3	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr17:9674889G>A	ENST00000330255.4	-	6	867	c.855C>T	c.(853-855)taC>taT	p.Y285Y	DHRS7C_ENST00000571134.1_Silent_p.Y284Y	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	285						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						AGGTGCGGACGTACACGGCGG	0.612													4	14					0	0	0	0	A	9674889	G	A	9674889	2	1	242	1	0	0	0	0	0	0	0	1	4534	1140	40	1		1	DHRS7C	17	9674889	Silent	SNP	G	TCGA-CV-5978-01A-11D-1683-08	2096473	9674889	71520321	149	43840											
ZNF286B	729288	broad.mit.edu	37	chr17	18565761	18565761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcattacattcataaggcCtcactccagtatgaatcaac	14	12	4	11	0	4	1	4	1	0	0	5	1	5	1	2	1	2	1	2	1	5	5	rs150903875	by1000genomes	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr17:18565761C>T	ENST00000545289.1	-	5	1308	c.1058G>A	c.(1057-1059)aGg>aAg	p.R353K		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						TTCATAAGGCCTCACTCCAGT	0.358													3	19					0	0	0	0	T	18565761	C	T	18565761	3	4	242	1	0	0	0	0	1	0	0	0	17919	681	24	4	514	4	ZNF286B	17	18565761	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	8890872	18565761	62629449	150	43841											
MYCBPAP	84073	broad.mit.edu	37	chr17	48602314	48602314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgggggtcttgacccCggagcgcacaccatcacctg	7	7	13	14	2	2	2	1	2	1	0	2	3	2	3	4	3	1	2	4	3	0	1	rs140934764	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr17:48602314C>T	ENST00000323776.5	+	13	2003	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.P577L	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	577					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GTCTTGACCCCGGAGCGCACA	0.627													25	62					0	0	0	0	T	48602314	C	T	48602314	3	4	242	1	0	0	0	0	1	0	0	0	10089	652	23	1	1891	1	MYCBPAP	17	48602314	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	30036553	48602314	32592896	151	43842											
MPPE1	65258	broad.mit.edu	37	chr18	11893517	11893517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatcccccaggatgaagaCgacttccggctgcagcaacc	11	6	10	14	2	0	2	0	1	0	1	2	5	2	3	4	2	3	3	4	2	3	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:11893517C>T	ENST00000588072.1	-	4	1561	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	MPPE1_ENST00000309976.9_Missense_Mutation_p.V114I|MPPE1_ENST00000399978.2_Missense_Mutation_p.V114I|MPPE1_ENST00000344987.7_Missense_Mutation_p.V114I|MPPE1_ENST00000317235.7_Missense_Mutation_p.V114I	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	114					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						AGGATGAAGACGACTTCCGGC	0.532													8	45					0	0	0	0	T	11893517	C	T	11893517	3	4	242	1	0	0	0	0	1	0	0	0	9810	536	19	1	882	1	MPPE1	18	11893517	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08		11893517	66183731	152	43843											
MC5R	4161	broad.mit.edu	37	chr18	13825968	13825968	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagaacaaaaacctgcaCtcccccatgtacttcttcgt	12	10	6	13	1	1	2	0	1	1	1	3	2	2	2	3	0	4	2	3	0	5	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:13825968C>A	ENST00000324750.3	+	1	426	c.204C>A	c.(202-204)caC>caA	p.H68Q		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	68					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AAAACCTGCACTCCCCCATGT	0.527													11	51					2.27111e-07	2.75218e-07	1	0	A	13825968	C	A	13825968	3	1	242	1	0	0	0	0	1	0	0	0	9436	564	20	4	206	4	MC5R	18	13825968	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	1932451	13825968	64251280	153	43844											
ZNF519	162655	broad.mit.edu	37	chr18	14106206	14106206	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcctttcacagttaaatgTttgttatgactagttgtcaa	10	18	6	7	0	3	1	2	1	1	0	4	1	3	1	1	0	0	4	1	0	5	6			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:14106206T>C	ENST00000590202.1	-	3	485	c.333A>G	c.(331-333)aaA>aaG	p.K111K	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CAGTTAAATGTTTGTTATGAC	0.333													12	51					0	0	0	0	C	14106206	T	C	14106206	2	2	242	1	0	0	0	0	0	0	0	1	18059	1722	60	5		5	ZNF519	18	14106206	Silent	SNP	T	TCGA-CV-5978-01A-11D-1683-08	280238	14106206	63971042	154	43845											
ASXL3	80816	broad.mit.edu	37	chr18	31322978	31322978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagccaggaccctcgcaGatatcaaggcccgggcccaa	11	3	12	15	2	1	1	1	0	0	1	2	3	1	3	4	4	1	1	4	4	3	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:31322978G>T	ENST00000269197.5	+	12	3166	c.3166G>T	c.(3166-3168)Gat>Tat	p.D1056Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1056	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GACCCTCGCAGATATCAAGGC	0.587													4	9					1.23904e-05	1.41113e-05	1	0	T	31322978	G	T	31322978	3	4	242	1	0	0	0	0	1	0	0	0	1072	942	33	2	3212	2	ASXL3	18	31322978	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	17216772	31322978	46754270	155	43846											
RIT2	6014	broad.mit.edu	37	chr18	40323626	40323626	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaatctgagggctgcagaGgtctcaaaaaaaccacaatt	16	7	9	9	0	2	3	1	1	2	2	3	3	2	3	1	2	2	2	1	2	5	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:40323626G>T	ENST00000326695.5	-	5	657	c.486C>A	c.(484-486)acC>acA	p.T162T	RIT2_ENST00000589109.1_3'UTR|RIT2_ENST00000590910.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	162					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCTGCAGAGGTCTCAAAAA	0.378													26	44					4.47668e-21	6.59439e-21	1	0	T	40323626	G	T	40323626	2	4	242	1	0	0	0	0	0	0	0	1	13472	987	35	4		4	RIT2	18	40323626	Silent	SNP	G	TCGA-CV-5978-01A-11D-1683-08	9000648	40323626	37753622	156	43847											
ST8SIA5	29906	broad.mit.edu	37	chr18	44266168	44266168	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcgctgttgatctcccTcccgcagcggctgttcttca	3	12	11	15	4	3	1	1	1	2	0	6	1	4	1	2	2	1	5	2	2	0	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:44266168T>A	ENST00000315087.7	-	5	1198	c.538A>T	c.(538-540)Agg>Tgg	p.R180W	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R216W|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R149W	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	180					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TTGATCTCCCTCCCGCAGCGG	0.587													5	48					0	0	0	0	A	44266168	T	A	44266168	3	1	242	1	0	0	0	0	1	0	0	0	15325	1550	54	5	604	5	ST8SIA5	18	44266168	Missense_Mutation	SNP	T	TCGA-CV-5978-01A-11D-1683-08	3942542	44266168	33811080	157	43848											
HCN2	610	broad.mit.edu	37	chr19	608035	608035	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatgctgtgcatcgggtaCggccggcaggcgcccgagag	7	5	16	13	5	0	1	0	0	0	1	1	2	0	1	2	4	3	4	2	4	1	1	rs145436026	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:608035C>T	ENST00000251287.2	+	4	1343	c.1290C>T	c.(1288-1290)taC>taT	p.Y430Y		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	430					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCATCGGGTACGGCCGGCAGG	0.617													7	50					0	0	0	0	T	608035	C	T	608035	2	4	242	1	0	0	0	0	0	0	0	1	7047	547	19	1		1	HCN2	19	608035	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08		608035	58520948	158	43849											
AP3D1	8943	broad.mit.edu	37	chr19	2112894	2112894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccctcggcatcgtcctcctCgccctgcgcctccgtcttgg	1	10	9	21	5	1	0	0	0	1	0	7	0	4	0	7	2	1	1	7	2	0	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:2112894C>T	ENST00000355272.6	-	24	2958	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K	AP3D1_ENST00000356926.4_Missense_Mutation_p.E815K|AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000345016.5_Intron	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	872					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TCGTCCTCCTCGCCCTGCGCC	0.667													8	38					0	0	0	0	T	2112894	C	T	2112894	3	4	242	1	0	0	0	0	1	0	0	0	747	893	31	1	931	1	AP3D1	19	2112894	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	1504859	2112894	57016089	159	43850											
C3	718	broad.mit.edu	37	chr19	6709693	6709693	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccttgggtcactggcccttAccttactctgcgtcagtttg	4	14	10	13	1	3	0	2	0	1	0	3	0	3	0	3	2	3	1	3	2	2	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:6709693A>T	ENST00000245907.6	-	14	1938		c.e14+1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACTGGCCCTTACCTTACTCTG	0.627													16	168					0	0	0	0	T	6709693	A	T	6709693	5	4	242	1	0	0	0	0	0	0	1	0	2224	405	14	5	3256	5	C3	19	6709693	Splice_Site	SNP	A	TCGA-CV-5978-01A-11D-1683-08	4596799	6709693	52419290	160	43851											
MUC16	94025	broad.mit.edu	37	chr19	9059076	9059076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagggacaggagaggagTggctactcccagatggtgtg	10	7	17	7	0	0	3	0	1	0	2	1	6	1	5	1	5	1	1	1	5	1	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:9059076T>C	ENST00000397910.4	-	3	28573	c.28370A>G	c.(28369-28371)cAc>cGc	p.H9457R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9459	Ser-rich.|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						AGGAGAGGAGTGGCTACTCCC	0.498													20	79					0	0	0	0	C	9059076	T	C	9059076	3	2	242	1	0	0	0	0	1	0	0	0	10043	1696	59	5	15481	5	MUC16	19	9059076	Missense_Mutation	SNP	T	TCGA-CV-5978-01A-11D-1683-08	2349383	9059076	50069907	161	43852											
MUC16	94025	broad.mit.edu	37	chr19	9062974	9062974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgctagaggaggtgaCttctgtcctggagacttcag	7	13	13	8	0	3	3	1	1	2	2	4	5	4	4	1	3	1	2	1	3	1	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:9062974C>A	ENST00000397910.4	-	3	24675	c.24472G>T	c.(24472-24474)Gtc>Ttc	p.V8158F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8160	Ser-rich.|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						GAGGAGGTGACTTCTGTCCTG	0.542													16	75					6.72482e-11	8.75295e-11	1	0	A	9062974	C	A	9062974	3	1	242	1	0	0	0	0	1	0	0	0	10043	565	20	4	19379	4	MUC16	19	9062974	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	3898	9062974	50066009	162	43853											
KEAP1	9817	broad.mit.edu	37	chr19	10610277	10610277	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttctcgcccatggagaTggaggccgtgtaggcgaatt	9	9	13	10	3	1	1	0	0	1	1	2	4	1	2	2	4	0	1	2	4	2	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:10610277T>A	ENST00000171111.5	-	2	980	c.433A>T	c.(433-435)Atc>Ttc	p.I145F	KEAP1_ENST00000393623.2_Missense_Mutation_p.I145F	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	145	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCCATGGAGATGGAGGCCGTG	0.592													14	36					0	0	0	0	A	10610277	T	A	10610277	3	1	242	1	0	0	0	0	1	0	0	0	8193	1464	51	5	1461	5	KEAP1	19	10610277	Missense_Mutation	SNP	T	TCGA-CV-5978-01A-11D-1683-08	1547303	10610277	48518706	163	43854											
SIN3B	23309	broad.mit.edu	37	chr19	16977364	16977364	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcgagagcgtctacgaCgaggtaaagccttccctagc	11	7	12	11	4	1	2	0	0	1	2	3	6	2	2	2	1	4	1	2	1	4	4	rs138346712	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:16977364C>T	ENST00000379803.1	+	13	1913	c.1899C>T	c.(1897-1899)gaC>gaT	p.D633D	SIN3B_ENST00000248054.5_Silent_p.D601D|SIN3B_ENST00000595541.1_Silent_p.D191D	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	633					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCGTCTACGACGAGGTAAAGC	0.627													17	22					0	0	0	0	T	16977364	C	T	16977364	2	4	242	1	0	0	0	0	0	0	0	1	14414	535	19	1		1	SIN3B	19	16977364	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08	6367087	16977364	42151619	164	43855											
ZNF536	9745	broad.mit.edu	37	chr19	30936564	30936564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaacgtcaccgaggagagcGgggtcggaggcggcctctcc	7	5	16	13	5	2	1	1	0	1	1	4	4	2	2	3	6	2	0	3	6	1	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:30936564G>A	ENST00000355537.3	+	2	2242	c.2095G>A	c.(2095-2097)Ggg>Agg	p.G699R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGAGGAGAGCGGGGTCGGAGG	0.697													14	13					0	0	0	0	A	30936564	G	A	30936564	3	1	242	1	0	0	0	0	1	0	0	0	18069	1116	39	1	2097	1	ZNF536	19	30936564	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	13959200	30936564	28192419	165	43856											
ANKRD27	84079	broad.mit.edu	37	chr19	33131245	33131245	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccgttttcacaagcaagtaTaacaggactgatagcagatc	14	10	8	9	1	1	2	1	1	0	1	3	3	2	3	1	1	3	4	1	1	5	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:33131245T>C	ENST00000306065.4	-	11	1109	c.951A>G	c.(949-951)ttA>ttG	p.L317L	ANKRD27_ENST00000587352.1_Silent_p.L317L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	317	VPS9.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CAAGCAAGTATAACAGGACTG	0.448													17	51					0	0	0	0	C	33131245	T	C	33131245	2	2	242	1	0	0	0	0	0	0	0	1	655	1403	49	5		5	ANKRD27	19	33131245	Silent	SNP	T	TCGA-CV-5978-01A-11D-1683-08	2194681	33131245	25997738	166	43857											
LRFN3	79414	broad.mit.edu	37	chr19	36430643	36430643	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggcgccttcgccgacCtgcgggccctgcgtgccctg	1	7	14	19	6	0	0	0	0	0	0	1	1	0	0	6	2	4	0	6	2	0	1	rs112518812		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:36430643C>T	ENST00000588831.1	+	3	1370	c.316C>T	c.(316-318)Ctg>Ttg	p.L106L	LRFN3_ENST00000246529.3_Silent_p.L106L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	106					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTTCGCCGACCTGCGGGCCCT	0.706													5	28					0	0	0	0	T	36430643	C	T	36430643	2	4	242	1	0	0	0	0	0	0	0	1	9003	680	24	4		4	LRFN3	19	36430643	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08	3299398	36430643	22698340	167	43858											
CLIP3	25999	broad.mit.edu	37	chr19	36517871	36517871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccgactccgtgggccccaGctttgcacgcatagtggagc	7	7	12	15	3	0	0	0	0	0	0	1	2	1	1	4	2	3	3	4	2	1	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:36517871G>A	ENST00000360535.4	-	4	610	c.383C>T	c.(382-384)gCt>gTt	p.A128V	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.A128V	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	128					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGGGCCCCAGCTTTGCACGC	0.617													4	34					0	0	0	0	A	36517871	G	A	36517871	3	1	242	1	0	0	0	0	1	0	0	0	3564	971	34	4	1304	4	CLIP3	19	36517871	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	87228	36517871	22611112	168	43859											
FCGBP	8857	broad.mit.edu	37	chr19	40424009	40424009	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtgatctccagtccccaaCcgagatgccaagctccagac	10	7	9	15	1	1	3	0	1	1	2	4	4	3	3	6	1	3	1	6	1	2	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:40424009C>A	ENST00000221347.6	-	4	2201	c.2194G>T	c.(2194-2196)Gtt>Ttt	p.V732F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	732			V -> A (in dbSNP:rs34181317).			extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGTCCCCAACCGAGATGCCA	0.617													18	49					6.49762e-13	8.88008e-13	1	0	A	40424009	C	A	40424009	3	1	242	1	0	0	0	0	1	0	0	0	5823	507	18	4	14155	4	FCGBP	19	40424009	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	3906138	40424009	18704974	169	43860											
CLDND2	125875	broad.mit.edu	37	chr19	51871727	51871729	+	In_Frame_Del	DEL	TTG	TTG	-																															cacaggccactgtggccctcTtgttggcgggtccagtagtt																										TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:51871727_51871729delTTG	ENST00000291715.1	-	1	528_530	c.103_105delCAA	c.(103-105)del	p.Q35del	CLDND2_ENST00000601435.1_In_Frame_Del_p.Q35del	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	35						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGTGGCCCTCTTGTTGGCGGGTC	0.64													23	66	---	---	---	---					-	51871729	TTG	-	51871727	7	5	242	1	0	1	0	1	0	0	0	0	3524	1606	56	0	414	0	CLDND2	19	51871727	In_Frame_Del	DEL	TTG	TCGA-CV-5978-01A-11D-1683-08	11447718	51871727	7257256	170	43861											
ZNF836	162962	broad.mit.edu	37	chr19	52663759	52663759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctccaacatcacatccCagtacaaagctttctgcaca	13	10	4	14	0	3	0	1	0	2	0	5	0	4	0	2	0	4	4	2	0	3	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:52663759C>A	ENST00000322146.8	-	4	622	c.101G>T	c.(100-102)tGg>tTg	p.W34L	ZNF836_ENST00000597252.1_Missense_Mutation_p.W34L|ZNF836_ENST00000597065.1_Missense_Mutation_p.W34L|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CATCACATCCCAGTACAAAGC	0.433													12	84					0.00010058	0.000111453	1	0	A	52663759	C	A	52663759	3	1	242	1	0	0	0	0	1	0	0	0	18280	595	21	4	2715	4	ZNF836	19	52663759	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	792032	52663759	6465224	171	43862											
ZNF264	9422	broad.mit.edu	37	chr19	57723895	57723895	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcgccacttcagcatccAcactggagagaagccctatg	11	8	8	14	1	1	1	1	0	0	1	3	3	2	2	3	1	2	1	3	1	2	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:57723895A>T	ENST00000263095.6	+	4	1844	c.1430A>T	c.(1429-1431)cAc>cTc	p.H477L	ZNF264_ENST00000536056.1_Missense_Mutation_p.H477L	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TTCAGCATCCACACTGGAGAG	0.542													9	26					0	0	0	0	T	57723895	A	T	57723895	3	4	242	1	0	0	0	0	1	0	0	0	17899	159	6	5	1444	5	ZNF264	19	57723895	Missense_Mutation	SNP	A	TCGA-CV-5978-01A-11D-1683-08	5060136	57723895	1405088	172	43863											
SEL1L2	80343	broad.mit.edu	37	chr20	13846030	13846030	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgctgaattgctttgagctActtcataccccatttctgca	9	15	6	11	0	2	2	1	2	1	0	2	2	2	2	2	0	6	4	2	0	3	6			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr20:13846030A>G	ENST00000284951.5	-	16	1609	c.1535T>C	c.(1534-1536)gTa>gCa	p.V512A	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	512						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GCTTTGAGCTACTTCATACCC	0.383													31	76					0	0	0	0	G	13846030	A	G	13846030	3	3	242	1	0	0	0	0	1	0	0	0	14098	391	14	5	551	5	SEL1L2	20	13846030	Missense_Mutation	SNP	A	TCGA-CV-5978-01A-11D-1683-08		13846030	49179490	173	43864											
ASXL1	171023	broad.mit.edu	37	chr20	31024686	31024686	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaggaaagctactgggcatAgtcccctggaactggtgggt	10	8	14	9	0	0	0	0	0	0	0	1	2	1	2	2	5	3	2	2	5	4	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr20:31024686A>T	ENST00000375687.4	+	13	4595	c.4171A>T	c.(4171-4173)Agt>Tgt	p.S1391C	ASXL1_ENST00000306058.5_Missense_Mutation_p.S1386C	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1391					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TACTGGGCATAGTCCCCTGGA	0.542			"F, N, Mis"		"MDS, CMML"								24	102					0	0	0	0	T	31024686	A	T	31024686	3	4	242	1	0	0	0	0	1	0	0	0	1070	420	15	5	4227	5	ASXL1	20	31024686	Missense_Mutation	SNP	A	TCGA-CV-5978-01A-11D-1683-08	17178656	31024686	32000834	174	43865											
DSCAM	1826	broad.mit.edu	37	chr21	41711115	41711115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagtgcagcggtagactcCcccgtcccggacctgggagc	6	5	15	15	3	0	1	0	0	0	1	2	3	2	3	4	4	3	3	4	4	1	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr21:41711115C>T	ENST00000400454.1	-	7	1915	c.1438G>A	c.(1438-1440)Gga>Aga	p.G480R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	480	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGGTAGACTCCCCCGTCCCGG	0.562													17	26					0	0	0	0	T	41711115	C	T	41711115	3	4	242	1	0	0	0	0	1	0	0	0	4804	632	22	4	4708	4	DSCAM	21	41711115	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08		41711115	6418780	175	43866											
COL6A1	1291	broad.mit.edu	37	chr21	47423497	47423497	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcacgggccagcagcgccCagagcgggcgtcgctgcagt	6	3	17	15	6	0	1	0	0	0	1	1	1	0	1	2	3	4	4	2	3	0	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr21:47423497C>A	ENST00000361866.3	+	35	2771	c.2657C>A	c.(2656-2658)cCa>cAa	p.P886Q	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	886	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CAGCAGCGCCCAGAGCGGGCG	0.687													6	25					0.00116845	0.00123364	1	0	A	47423497	C	A	47423497	3	1	242	1	0	0	0	0	1	0	0	0	3729	594	21	4	2795	4	COL6A1	21	47423497	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	5712382	47423497	706398	176	43867											
HMGXB4	10042	broad.mit.edu	37	chr22	35661578	35661578	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaagagaaggacaaagaGagagagagaggagaaaaggt	23	1	16	1	0	0	6	0	0	0	6	0	12	0	7	0	3	0	0	0	3	6	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr22:35661578G>C	ENST00000216106.5	+	5	1325	c.1197G>C	c.(1195-1197)gaG>gaC	p.E399D	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E290D	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	399					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						aggacaaagagagagagagag	0.463													6	21					0	0	0	0	C	35661578	G	C	35661578	3	2	242	1	0	0	0	0	1	0	0	0	7289	933	33	2	1211	2	HMGXB4	22	35661578	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08		35661578	15642988	177	43868											
GGA1	26088	broad.mit.edu	37	chr22	38016247	38016247	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactgtgtccctgaagtaTctgggctctcggacatcgga	7	10	11	13	2	2	1	0	1	2	0	5	3	3	3	2	3	0	2	2	3	2	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr22:38016247T>C	ENST00000406772.1	+	6	739	c.87T>C	c.(85-87)taT>taC	p.Y29Y	GGA1_ENST00000343632.4_Silent_p.Y102Y|GGA1_ENST00000337437.4_Silent_p.Y69Y|GGA1_ENST00000325180.8_Silent_p.Y102Y|GGA1_ENST00000381756.5_Silent_p.Y119Y	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	102	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CCCTGAAGTATCTGGGCTCTC	0.592													51	89					0	0	0	0	C	38016247	T	C	38016247	2	2	242	1	0	0	0	0	0	0	0	1	6403	1442	50	5		5	GGA1	22	38016247	Silent	SNP	T	TCGA-CV-5978-01A-11D-1683-08	2354669	38016247	13288319	178	43869											
TBL1X	6907	broad.mit.edu	37	chrX	9660274	9660274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcccgagtaacaaagacGtcacctcactggactggaat	13	7	9	12	3	2	1	2	0	0	1	3	4	3	3	2	2	1	1	2	2	3	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:9660274G>T	ENST00000217964.7	+	9	1511	c.871G>T	c.(871-873)Gtc>Ttc	p.V291F	TBL1X_ENST00000424279.1_Missense_Mutation_p.V240F|TBL1X_ENST00000536365.1_Missense_Mutation_p.V240F|TBL1X_ENST00000407597.2_Missense_Mutation_p.V291F|TBL1X_ENST00000380961.1_Missense_Mutation_p.V240F	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	291					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TAACAAAGACGTCACCTCACT	0.557													13	51					1.05317e-09	1.33546e-09	1	0	T	9660274	G	T	9660274	3	4	242	1	0	0	0	0	1	0	0	0	15733	1145	40	3	893	3	TBL1X	23	9660274	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08		9660274	145610286	179	43870											
CLCN4	1183	broad.mit.edu	37	chrX	10188916	10188916	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgcctggtgacgcggagcGggtgagtagccggacatgtg	7	7	19	8	4	0	2	0	2	0	0	0	4	0	4	2	4	3	1	2	4	1	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:10188916G>T	ENST00000380833.4	+	12	2582	c.2192_splice	c.e12+1	p.G731_splice	CLCN4_ENST00000421085.2_Splice_Site_p.G637_splice|CLCN4_ENST00000380829.1_Splice_Site_p.G700_splice	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	731	CBS 2.					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GACGCGGAGCGGGTGAGTAGC	0.562													21	56					1.55795e-14	2.22822e-14	1	0	T	10188916	G	T	10188916	5	4	242	1	0	0	0	0	0	0	1	0	3495	1130	39	3	2229	3	CLCN4	23	10188916	Splice_Site	SNP	G	TCGA-CV-5978-01A-11D-1683-08	528642	10188916	145081644	180	43871											
SCML2	10389	broad.mit.edu	37	chrX	18283736	18283736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttggaccttttttccttGgtgtgatatttttaacagaa	9	19	8	5	0	0	2	0	1	0	1	1	3	1	3	2	2	1	1	2	2	3	9			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:18283736G>T	ENST00000251900.4	-	8	1076	c.917C>A	c.(916-918)cCa>cAa	p.P306Q	SCML2_ENST00000398048.3_Missense_Mutation_p.P42Q	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	306					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTTTTTCCTTGGTGTGATATT	0.358													15	169					0.000422831	0.00046436	1	0	T	18283736	G	T	18283736	3	4	242	1	0	0	0	0	1	0	0	0	13997	1348	47	4	1217	4	SCML2	23	18283736	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	8094820	18283736	136986824	181	43872											
CDKL5	6792	broad.mit.edu	37	chrX	18616687	18616687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgttctccttcaaggtcaGcaaaaagaaaaccttaccat	15	10	5	11	1	3	1	2	0	1	1	5	1	3	1	3	1	3	2	3	1	6	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:18616687G>T	ENST00000379989.3	+	12	1216	c.931G>T	c.(931-933)Gca>Tca	p.A311S	CDKL5_ENST00000379996.3_Missense_Mutation_p.A311S	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	311					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	p.A311T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TTCAAGGTCAGCAAAAAGAAA	0.408													14	77					1.5842e-08	1.94857e-08	1	0	T	18616687	G	T	18616687	3	4	242	1	0	0	0	0	1	0	0	0	3186	971	34	4	969	4	CDKL5	23	18616687	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	332951	18616687	136653873	182	43873											
PHKA2	5256	broad.mit.edu	37	chrX	18972377	18972377	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcagtcactattacctgctCcagctcgtaggccttggcct	6	12	9	14	1	2	0	2	0	0	0	4	0	3	0	4	2	3	3	4	2	3	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:18972377C>A	ENST00000379942.4	-	2	897	c.232G>T	c.(232-234)Gag>Tag	p.E78*		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	78					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ATTACCTGCTCCAGCTCGTAG	0.542													30	75					2.61193e-14	3.71402e-14	1	0	A	18972377	C	A	18972377	4	1	242	1	0	0	0	0	0	1	0	0	11916	864	30	2	3603	2	PHKA2	23	18972377	Nonsense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	355690	18972377	136298183	183	43874											
DMD	1756	broad.mit.edu	37	chrX	32716006	32716006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgaaggaaatgggctcCgtgtagggtcagaggtggtg	8	9	18	6	1	1	2	1	1	0	1	2	3	2	3	2	5	0	2	2	5	3	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:32716006C>T	ENST00000357033.4	-	9	1147	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	DMD_ENST00000288447.4_Missense_Mutation_p.R306Q|DMD_ENST00000378677.2_Missense_Mutation_p.R310Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	314					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAATGGGCTCCGTGTAGGGTC	0.453													5	15					0	0	0	0	T	32716006	C	T	32716006	3	4	242	1	0	0	0	0	1	0	0	0	4617	652	23	1	10643	1	DMD	23	32716006	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	13743629	32716006	122554554	184	43875											
FAM47A	158724	broad.mit.edu	37	chrX	34150048	34150048	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttccacttgctctacgaaCgccttccgtgctagctgggc	5	11	10	15	3	1	0	0	0	1	0	3	1	3	0	3	1	5	4	3	1	3	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:34150048C>A	ENST00000346193.3	-	1	399	c.348G>T	c.(346-348)gcG>gcT	p.A116A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	116										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCTCTACGAACGCCTTCCGTG	0.552													16	74					4.14922e-12	5.45833e-12	1	0	A	34150048	C	A	34150048	2	1	242	1	0	0	0	0	0	0	0	1	5616	523	19	3		3	FAM47A	23	34150048	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08	1434042	34150048	121120512	185	43876											
BCOR	54880	broad.mit.edu	37	chrX	39913236	39913236	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataggcatcgtcatcatcatCctggtcttctggtcctgggg	6	13	11	11	1	5	0	3	0	2	0	8	0	7	0	2	5	0	1	2	5	1	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:39913236C>A	ENST00000342274.4	-	14	5139	c.4777G>T	c.(4777-4779)Gat>Tat	p.D1593Y	BCOR_ENST00000397354.3_Missense_Mutation_p.D1593Y|BCOR_ENST00000378444.4_Missense_Mutation_p.D1627Y|BCOR_ENST00000378463.1_Missense_Mutation_p.D470Y|BCOR_ENST00000378455.4_Missense_Mutation_p.D1575Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1627					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCATCATCATCCTGGTCTTCT	0.448			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						5	21					5.9392e-07	7.05818e-07	1	0	A	39913236	C	A	39913236	3	1	242	1	0	0	0	0	1	0	0	0	1390	855	30	2	396	2	BCOR	23	39913236	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	5763188	39913236	115357324	186	43877											
BCOR	54880	broad.mit.edu	37	chrX	39913587	39913587	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaggtcatttaaataatCtggagggagagaaaaataaa	18	9	11	3	0	2	1	1	0	1	1	2	5	2	4	0	4	0	0	0	4	7	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:39913587C>T	ENST00000342274.4	-	13	5002		c.e13-1		BCOR_ENST00000397354.3_Splice_Site|BCOR_ENST00000378444.4_Splice_Site|BCOR_ENST00000378463.1_Splice_Site|BCOR_ENST00000378455.4_Splice_Site	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor						heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTTAAATAATCTGGAGGGAGA	0.423			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						5	15					0	0	0	0	T	39913587	C	T	39913587	5	4	242	1	0	0	0	0	0	0	1	0	1390	927	32	2	538	2	BCOR	23	39913587	Splice_Site	SNP	C	TCGA-CV-5978-01A-11D-1683-08	351	39913587	115356973	187	43878											
BCOR	54880	broad.mit.edu	37	chrX	39933796	39933796	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggaggccgaaggtgtcGagagcctcatgggtgatgcc	7	7	18	9	2	1	2	1	1	0	1	2	5	1	3	3	5	2	0	3	5	1	0			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:39933796G>T	ENST00000342274.4	-	4	1165	c.803C>A	c.(802-804)tCg>tAg	p.S268*	BCOR_ENST00000397354.3_Nonsense_Mutation_p.S268*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.S268*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.S268*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	268					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGAAGGTGTCGAGAGCCTCAT	0.612			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						5	16					0.000602214	0.000649758	1	0	T	39933796	G	T	39933796	4	4	242	1	0	0	0	0	0	1	0	0	1390	1059	37	3	4512	3	BCOR	23	39933796	Nonsense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	20209	39933796	115336764	188	43879											
PORCN	64840	broad.mit.edu	37	chrX	48374170	48374170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcacctatgcagccagcGccctcctacatgtgagcagg	8	8	11	14	1	1	1	1	1	0	0	2	1	2	1	4	2	5	2	4	2	2	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:48374170G>A	ENST00000367574.4	+	9	1271	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	PORCN_ENST00000361988.3_Missense_Mutation_p.A327T|PORCN_ENST00000537758.1_Missense_Mutation_p.A338T|PORCN_ENST00000359882.4_Missense_Mutation_p.A332T|PORCN_ENST00000355961.4_Missense_Mutation_p.A333T|PORCN_ENST00000326194.6_Missense_Mutation_p.A338T|PORCN_ENST00000355092.3_Missense_Mutation_p.A332T			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	338					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCAGCCAGCGCCCTCCTACA	0.567													11	40					0	0	0	0	A	48374170	G	A	48374170	3	1	242	1	0	0	0	0	1	0	0	0	12330	1087	38	1	1050	1	PORCN	23	48374170	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	8440374	48374170	106896390	189	43880											
CLCN5	1184	broad.mit.edu	37	chrX	49853388	49853388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttatccctagcatggctGttggtgctatagcaggtcga	7	14	11	9	1	1	0	0	0	1	0	3	1	2	0	1	3	3	5	1	3	4	6			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:49853388G>A	ENST00000376088.3	+	12	2232	c.1591G>A	c.(1591-1593)Gtt>Att	p.V531I	CLCN5_ENST00000376108.3_Missense_Mutation_p.V461I|CLCN5_ENST00000307367.2_Missense_Mutation_p.V461I|CLCN5_ENST00000376091.3_Missense_Mutation_p.V531I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	461					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TAGCATGGCTGTTGGTGCTAT	0.483													39	121					0	0	0	0	A	49853388	G	A	49853388	3	1	242	1	0	0	0	0	1	0	0	0	3496	1377	48	4	1629	4	CLCN5	23	49853388	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	1479218	49853388	105417172	190	43881											
HUWE1	10075	broad.mit.edu	37	chrX	53619397	53619397	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgacttgaggttcccggcgGgagccaccttcctcttgccc	4	11	11	15	2	1	2	0	2	1	0	3	3	3	3	5	3	2	1	5	3	0	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:53619397G>A	ENST00000342160.3	-	32	4390	c.3933C>T	c.(3931-3933)tcC>tcT	p.S1311S	HUWE1_ENST00000218328.8_Silent_p.S1311S|HUWE1_ENST00000262854.6_Silent_p.S1311S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1311					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTTCCCGGCGGGAGCCACCTT	0.557													28	75					0	0	0	0	A	53619397	G	A	53619397	2	1	242	1	0	0	0	0	0	0	0	1	7514	1219	43	4		4	HUWE1	23	53619397	Silent	SNP	G	TCGA-CV-5978-01A-11D-1683-08	3766009	53619397	101651163	191	43882											
FGD1	2245	broad.mit.edu	37	chrX	54472832	54472832	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaatgaggggcaggctgcGctgggctttcacatcctggc	6	8	15	12	1	1	1	1	1	0	0	2	1	2	1	2	5	1	4	2	5	1	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:54472832G>C	ENST00000375135.3	-	18	3329	c.2596C>G	c.(2596-2598)Cgc>Ggc	p.R866G		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	866	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGCAGGCTGCGCTGGGCTTTC	0.632													10	24					0	0	0	0	C	54472832	G	C	54472832	3	2	242	1	0	0	0	0	1	0	0	0	5877	1087	38	3	293	3	FGD1	23	54472832	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	853435	54472832	100797728	192	43883											
FGD1	2245	broad.mit.edu	37	chrX	54482960	54482960	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattttgcggatggcagcAttcgagtgctctgctgctgt	6	13	12	10	2	1	0	0	0	1	0	2	2	1	1	1	2	5	5	1	2	0	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:54482960A>T	ENST00000375135.3	-	9	2410	c.1677T>A	c.(1675-1677)aaT>aaA	p.N559K		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	559	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGATGGCAGCATTCGAGTGCT	0.607													3	28					0	0	0	0	T	54482960	A	T	54482960	3	4	242	1	0	0	0	0	1	0	0	0	5877	214	8	5	1248	5	FGD1	23	54482960	Missense_Mutation	SNP	A	TCGA-CV-5978-01A-11D-1683-08	10128	54482960	100787600	193	43884											
PFKFB1	5207	broad.mit.edu	37	chrX	54985328	54985328	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggatcagtgaccgtcGttctctggtagtgttggtgg	5	13	15	8	2	2	1	1	1	1	0	4	2	2	2	1	4	1	4	1	4	1	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:54985328G>T	ENST00000375006.3	-	5	485	c.415C>A	c.(415-417)Cga>Aga	p.R139R	PFKFB1_ENST00000545676.1_Silent_p.R74R|PFKFB1_ENST00000374992.2_Silent_p.R117R	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	139	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						AGTGACCGTCGTTCTCTGGTA	0.453													32	98					1.26612e-14	1.82143e-14	1	0	T	54985328	G	T	54985328	2	4	242	1	0	0	0	0	0	0	0	1	11832	1153	40	3		3	PFKFB1	23	54985328	Silent	SNP	G	TCGA-CV-5978-01A-11D-1683-08	502368	54985328	100285232	194	43885											
MTMR8	55613	broad.mit.edu	37	chrX	63490948	63490948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggttatacatcccacacCagaacctcaaatagacaaaa	18	6	5	12	1	1	2	1	0	0	2	2	2	2	2	3	1	3	1	3	1	7	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:63490948C>A	ENST00000374852.3	-	13	1554	c.1487G>T	c.(1486-1488)tGg>tTg	p.W496L	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	496	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CATCCCACACCAGAACCTCAA	0.433													5	13					0.0215528	0.022184	1	0	A	63490948	C	A	63490948	3	1	242	1	0	0	0	0	1	0	0	0	10019	595	21	4	635	4	MTMR8	23	63490948	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	8505620	63490948	91779612	195	43886											
KIAA2022	340533	broad.mit.edu	37	chrX	73962022	73962022	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatttcagaagagcatgtCgttggtagaaaagtggaact	13	10	13	5	1	1	3	1	0	0	3	2	4	1	4	0	3	2	4	0	3	5	3			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:73962022C>A	ENST00000373468.1	-	3	3021	c.2370G>T	c.(2368-2370)acG>acT	p.T790T	KIAA2022_ENST00000055682.5_Silent_p.T790T			Q5QGS0	K2022_HUMAN	KIAA2022	790					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAGAGCATGTCGTTGGTAGAA	0.403													4	67					1.23904e-05	1.41113e-05	1	0	A	73962022	C	A	73962022	2	1	242	1	0	0	0	0	0	0	0	1	8320	871	31	3		3	KIAA2022	23	73962022	Silent	SNP	C	TCGA-CV-5978-01A-11D-1683-08	10471074	73962022	81308538	196	43887											
ATRX	546	broad.mit.edu	37	chrX	76938250	76938250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttttggtggttctggcaGcaccaattttactcatgctc	6	18	8	9	0	2	0	1	0	1	0	3	0	2	0	1	3	3	4	1	3	2	6			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:76938250G>T	ENST00000373344.5	-	9	2712	c.2498C>A	c.(2497-2499)gCt>gAt	p.A833D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.A795D	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	833					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GGTTCTGGcagcaccaatttt	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						22	154					2.37509e-13	3.28243e-13	1	0	T	76938250	G	T	76938250	3	4	242	1	0	0	0	0	1	0	0	0	1212	971	34	4	5088	4	ATRX	23	76938250	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	2976228	76938250	78332310	197	43888											
GLA	2717	broad.mit.edu	37	chrX	100656686	100656686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcagatctactccccagtCagcaaaggtctgggcatcaa	12	8	9	12	0	4	1	2	0	2	1	5	1	5	1	2	2	3	3	2	2	4	2			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:100656686C>T	ENST00000218516.3	-	3	502	c.481G>A	c.(481-483)Gac>Aac	p.D161N	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000493905.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	161					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	ACTCCCCAGTCAGCAAAGGTC	0.433													52	85					0	0	0	0	T	100656686	C	T	100656686	3	4	242	1	0	0	0	0	1	0	0	0	6477	826	29	2	828	2	GLA	23	100656686	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	23718436	100656686	54613874	198	43889											
NRK	203447	broad.mit.edu	37	chrX	105153085	105153085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgccactacaggcacaGgttagggcacctaggcttct	9	9	10	13	0	2	0	1	0	1	0	2	0	2	0	2	4	2	4	2	4	3	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:105153085G>T	ENST00000428173.2	+	13	1758	c.1455G>T	c.(1453-1455)caG>caT	p.Q485H	NRK_ENST00000243300.9_Missense_Mutation_p.Q484H			Q7Z2Y5	NRK_HUMAN	Nik related kinase	484	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TACAGGCACAGGTTAGGGCAC	0.542										HNSCC(51;0.14)			5	39					1.024e-07	1.25325e-07	1	0	T	105153085	G	T	105153085	3	4	242	1	0	0	0	0	1	0	0	0	10726	991	35	4	1502	4	NRK	23	105153085	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	4496399	105153085	50117475	199	43890											
PLS3	5358	broad.mit.edu	37	chrX	114869295	114869295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaaacctcatctggttttgGgactgctttggcagatcatt	8	14	11	8	0	3	1	2	0	1	1	3	3	3	3	1	4	2	3	1	4	1	4			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:114869295G>A	ENST00000420625.2	+	7	819	c.685G>A	c.(685-687)Gga>Aga	p.G229R	PLS3_ENST00000539310.1_Missense_Mutation_p.G184R|PLS3_ENST00000355899.3_Missense_Mutation_p.G229R|PLS3_ENST00000537301.1_Missense_Mutation_p.G207R|PLS3_ENST00000289290.3_Missense_Mutation_p.G184R	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	229	Actin-binding 1.|CH 1.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TCTGGTTTTGGGACTGCTTTG	0.438													11	112					0	0	0	0	A	114869295	G	A	114869295	3	1	242	1	0	0	0	0	1	0	0	0	12180	1233	43	4	707	4	PLS3	23	114869295	Missense_Mutation	SNP	G	TCGA-CV-5978-01A-11D-1683-08	9716210	114869295	40401265	200	43891											
SLC25A14	9016	broad.mit.edu	37	chrX	129484680	129484680	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagtgatatcttccactaTagccaatcccaccgatgttc	11	11	7	12	1	1	1	0	1	1	0	4	3	3	2	4	1	1	1	4	1	4	5			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:129484680T>C	ENST00000543953.1	+	5	417	c.368T>C	c.(367-369)aTa>aCa	p.I123T	SLC25A14_ENST00000339231.3_Missense_Mutation_p.I155T|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000545805.1_Missense_Mutation_p.I158T|SLC25A14_ENST00000361980.5_Missense_Mutation_p.I155T|SLC25A14_ENST00000218197.5_Missense_Mutation_p.I158T			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	158					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TCTTCCACTATAGCCAATCCC	0.383													6	58					0	0	0	0	C	129484680	T	C	129484680	3	2	242	1	0	0	0	0	1	0	0	0	14564	1406	49	5	491	5	SLC25A14	23	129484680	Missense_Mutation	SNP	T	TCGA-CV-5978-01A-11D-1683-08	14615385	129484680	25785880	201	43892											
GPR101	83550	broad.mit.edu	37	chrX	136112567	136112567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcgacatccacccacaCggccaggactgctaaaaagc	12	6	9	14	2	0	0	0	0	0	0	2	2	1	1	3	3	2	2	3	3	3	2	rs143030995	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:136112567C>T	ENST00000298110.1	-	1	1266	c.1267G>A	c.(1267-1269)Gtg>Atg	p.V423M		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	423						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V423M(2)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCCACCCACACGGCCAGGACT	0.517													8	57					0	0	0	0	T	136112567	C	T	136112567	3	4	242	1	0	0	0	0	1	0	0	0	6671	536	19	1	262	1	GPR101	23	136112567	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	6627887	136112567	19157993	202	43893											
SLC6A8	6535	broad.mit.edu	37	chrX	152960179	152960179	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattctggtccgtagggcatCttcatcttcaacgttgtgta	7	15	9	10	2	5	0	2	0	3	0	6	0	6	0	1	2	1	4	1	2	3	6			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:152960179C>G	ENST00000253122.5	+	12	2078	c.1602C>G	c.(1600-1602)atC>atG	p.I534M	SLC6A8_ENST00000430077.2_Missense_Mutation_p.I419M|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	534					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CGTAGGGCATCTTCATCTTCA	0.642													10	30					0	0	0	0	G	152960179	C	G	152960179	3	3	242	1	0	0	0	0	1	0	0	0	14778	903	32	2	1648	2	SLC6A8	23	152960179	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	16847612	152960179	2310381	203	43894											
NAA10	8260	broad.mit.edu	37	chrX	153195468	153195468	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtcggaggcctctgagCtgtccttgacatctgtgctc	5	12	12	12	1	2	3	0	3	2	0	5	4	3	4	2	2	2	2	2	2	0	1			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:153195468C>A	ENST00000464845.1	-	8	998	c.680G>T	c.(679-681)aGc>aTc	p.S227I	NAA10_ENST00000370009.1_Missense_Mutation_p.S212I|NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000393712.3_3'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	227					DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GGCCTCTGAGCTGTCCTTGAC	0.602													5	62					0.00116845	0.00123364	1	0	A	153195468	C	A	153195468	3	1	242	1	0	0	0	0	1	0	0	0	10186	797	28	4	31	4	NAA10	23	153195468	Missense_Mutation	SNP	C	TCGA-CV-5978-01A-11D-1683-08	235289	153195468	2075092	204	43895											
NOS1AP	9722	broad.mit.edu	37	chr1	162124256	162124256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcgtggctgccatgcGccggatacgggtgagtggcc	6	7	18	10	4	0	2	0	1	0	1	1	4	0	3	3	5	3	1	3	5	1	1			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:162124256G>A	ENST00000361897.5	+	2	569	c.167G>A	c.(166-168)cGc>cAc	p.R56H	NOS1AP_ENST00000530878.1_Missense_Mutation_p.R56H	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	56	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	p.R56H(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCTGCCATGCGCCGGATACGG	0.607													10	15					0	0	0	0	A	162124256	G	A	162124256	3	1	243	1	0	0	0	0	1	0	0	0	10612	1087	38	1	173	1	NOS1AP	1	162124256	Missense_Mutation	SNP	G	TCGA-CV-5979-01A-11D-1683-08		162124256	87126365	1	43896											
PIGC	5279	broad.mit.edu	37	chr1	172411036	172411036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagcactaatggacagtaGgcctcccacggctgaaaatg	13	6	10	12	1	0	1	0	1	0	0	1	2	1	2	2	3	1	3	2	3	4	2			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:172411036G>A	ENST00000367728.1	-	1	2190	c.727C>T	c.(727-729)Cta>Tta	p.L243L	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Silent_p.L243L|PIGC_ENST00000344529.4_Silent_p.L243L			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	243					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						ATGGACAGTAGGCCTCCCACG	0.498													44	30					0	0	0	0	A	172411036	G	A	172411036	2	1	243	1	0	0	0	0	0	0	0	1	11958	991	35	4		4	PIGC	1	172411036	Silent	SNP	G	TCGA-CV-5979-01A-11D-1683-08	10286780	172411036	76839585	2	43897											
ASPM	259266	broad.mit.edu	37	chr1	197112489	197112489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaagaacagttgggggtaAgactaagtttactattctct	12	14	10	5	0	1	3	0	1	1	2	2	3	1	3	0	2	2	3	0	2	6	8			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:197112489A>G	ENST00000367409.4	-	3	1149	c.893T>C	c.(892-894)cTt>cCt	p.L298P	ASPM_ENST00000294732.7_Missense_Mutation_p.L298P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	298					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTGGGGGTAAGACTAAGTTT	0.318													38	63					0	0	0	0	G	197112489	A	G	197112489	3	3	243	1	0	0	0	0	1	0	0	0	1060	72	3	5	9644	5	ASPM	1	197112489	Missense_Mutation	SNP	A	TCGA-CV-5979-01A-11D-1683-08	24701453	197112489	52138132	3	43898											
XIRP2	129446	broad.mit.edu	37	chr2	168105632	168105632	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttaaaactcaaagccaaaAtcaacacataacagaggtgg	19	7	7	8	0	2	1	2	0	0	1	2	1	2	1	1	2	4	1	1	2	7	2			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr2:168105632A>G	ENST00000409195.1	+	9	7819	c.7730A>G	c.(7729-7731)aAt>aGt	p.N2577S	XIRP2_ENST00000295237.9_Missense_Mutation_p.N2577S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N2355S|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2402					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						CAAAGCCAAAATCAACACATA	0.343													51	55					0	0	0	0	G	168105632	A	G	168105632	3	3	243	1	0	0	0	0	1	0	0	0	17526	101	4	5	7760	5	XIRP2	2	168105632	Missense_Mutation	SNP	A	TCGA-CV-5979-01A-11D-1683-08		168105632	75093741	4	43899											
DOCK3	1795	broad.mit.edu	37	chr3	51198105	51198105	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacagaagtaaaggaaGaaaaggattttgttcttaag	17	10	9	5	0	2	2	1	0	1	2	2	4	2	4	0	2	0	2	0	2	7	5			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr3:51198105G>T	ENST00000266037.9	+	12	1032	c.1009G>T	c.(1009-1011)Gaa>Taa	p.E337*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	337						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGTAAAGGAAGAAAAGGATTT	0.438													5	7					0.000602214	0.00067886	1	0	T	51198105	G	T	51198105	4	4	243	1	0	0	0	0	0	1	0	0	4724	943	33	2	1055	2	DOCK3	3	51198105	Nonsense_Mutation	SNP	G	TCGA-CV-5979-01A-11D-1683-08		51198105	146824325	5	43900											
CLDN18	51208	broad.mit.edu	37	chr3	137749947	137749947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccgcacagaggacgaGgtacaatcttatccttccaa	11	8	10	12	2	1	1	0	0	1	1	3	3	3	2	3	3	2	2	3	3	4	3			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr3:137749947G>T	ENST00000183605.5	+	5	976	c.750G>T	c.(748-750)gaG>gaT	p.E250D	CLDN18_ENST00000343735.4_Missense_Mutation_p.E250D	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	250					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.E250D(2)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CAGAGGACGAGGTACAATCTT	0.517													46	66					3.7052e-28	4.78589e-28	1	0	T	137749947	G	T	137749947	3	4	243	1	0	0	0	0	1	0	0	0	3509	991	35	4	992	4	CLDN18	3	137749947	Missense_Mutation	SNP	G	TCGA-CV-5979-01A-11D-1683-08	86551842	137749947	60272483	6	43901											
FGB	2244	broad.mit.edu	37	chr4	155490819	155490819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccaacaaataccagatctCagtgaacaaatacagaggaa	20	5	7	9	0	1	3	1	1	1	2	2	4	1	4	2	1	5	0	2	1	7	2			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr4:155490819C>T	ENST00000302068.4	+	7	1175	c.1112C>T	c.(1111-1113)tCa>tTa	p.S371L	FGB_ENST00000509493.1_Missense_Mutation_p.S152L|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	371	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.S371L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TACCAGATCTCAGTGAACAAA	0.448													21	42					0	0	0	0	T	155490819	C	T	155490819	3	4	243	1	0	0	0	0	1	0	0	0	5876	838	29	2	1138	2	FGB	4	155490819	Missense_Mutation	SNP	C	TCGA-CV-5979-01A-11D-1683-08		155490819	35663457	7	43902											
PCDHB11	56125	broad.mit.edu	37	chr5	140581481	140581481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctgttcgtggcggtgCggctgtgcaggaggagcagg	4	9	19	9	3	0	0	0	0	0	0	2	2	1	2	1	6	4	5	1	6	0	1			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr5:140581481C>T	ENST00000354757.3	+	1	2134	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	PCDHB11_ENST00000536699.1_Missense_Mutation_p.R347W	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		712					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCGGTGCGGCTGTGCAG	0.682													5	105					0	0	0	0	T	140581481	C	T	140581481	3	4	243	1	0	0	0	0	1	0	0	0	11607	759	27	1	2136	1	PCDHB11	5	140581481	Missense_Mutation	SNP	C	TCGA-CV-5979-01A-11D-1683-08		140581481	40333779	8	43903											
GCNT2	2651	broad.mit.edu	37	chr6	10529618	10529618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttccaagaaggagtcGgttgtctatggggggatctc	7	11	15	8	1	2	1	0	0	2	1	5	3	3	3	1	6	0	2	1	6	3	3			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr6:10529618G>A	ENST00000379597.3	+	1	1030	c.474G>A	c.(472-474)tcG>tcA	p.S158S	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Silent_p.S158S			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	158						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.S158S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AGAAGGAGTCGGTTGTCTATG	0.532													15	21					0	0	0	0	A	10529618	G	A	10529618	2	1	243	1	0	0	0	0	0	0	0	1	6350	1103	39	1		1	GCNT2	6	10529618	Silent	SNP	G	TCGA-CV-5979-01A-11D-1683-08		10529618	160585449	9	43904											
EGFL8	80864	broad.mit.edu	37	chr6	32134741	32134741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgttaggcctgaccagtGcgagtgcgcccccggctggg	4	7	16	14	4	0	1	0	1	0	0	0	2	0	1	4	3	3	2	4	3	1	1			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr6:32134741G>T	ENST00000395512.1	+	5	494	c.389G>T	c.(388-390)tGc>tTc	p.C130F	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.C130F			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	130	EGF-like 1.					extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CCTGACCAGTGCGAGTGCGCC	0.652													4	95					0.00024832	0.000285108	1	0	T	32134741	G	T	32134741	3	4	243	1	0	0	0	0	1	0	0	0	5001	1319	46	4	403	4	EGFL8	6	32134741	Missense_Mutation	SNP	G	TCGA-CV-5979-01A-11D-1683-08	21605123	32134741	138980326	10	43905											
ECT2L	345930	broad.mit.edu	37	chr6	139167808	139167808	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatcatcccggattcctgcGtatgaggtagagtatgttat	10	14	10	7	2	1	2	1	1	0	1	3	3	3	3	2	2	1	4	2	2	5	6			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr6:139167808G>A	ENST00000423192.1	+	7	1058	c.897G>A	c.(895-897)gcG>gcA	p.A299A	ECT2L_ENST00000541398.1_Silent_p.A230A|ECT2L_ENST00000367682.2_Silent_p.A299A			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	299					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GGATTCCTGCGTATGAGGTAG	0.383			"N, Splice, Mis"		ETP ALL								104	145					0	0	0	0	A	139167808	G	A	139167808	2	1	243	1	0	0	0	0	0	0	0	1	4938	1132	40	1		1	ECT2L	6	139167808	Silent	SNP	G	TCGA-CV-5979-01A-11D-1683-08	107033067	139167808	31947259	11	43906											
SHPRH	257218	broad.mit.edu	37	chr6	146276439	146276439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccctcactggaggagcaCgtttccgtcggctgctcatt	6	11	10	14	3	2	0	2	0	0	0	4	2	3	2	2	3	3	4	2	3	1	3			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr6:146276439C>T	ENST00000367503.3	-	2	418	c.20G>A	c.(19-21)cGt>cAt	p.R7H	SHPRH_ENST00000438092.2_Missense_Mutation_p.R7H|SHPRH_ENST00000275233.7_Missense_Mutation_p.R7H|SHPRH_ENST00000367505.2_Missense_Mutation_p.R7H	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	7					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGGAGGAGCACGTTTCCGTCG	0.428													42	55					0	0	0	0	T	146276439	C	T	146276439	3	4	243	1	0	0	0	0	1	0	0	0	14379	536	19	1	5191	1	SHPRH	6	146276439	Missense_Mutation	SNP	C	TCGA-CV-5979-01A-11D-1683-08	7108631	146276439	24838628	12	43907											
ZAN	7455	broad.mit.edu	37	chr7	100369720	100369721	+	RNA	INS	-	-	T																															ccctttcttcctctaaattcINSttttttttttttttgagacg																										TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535													4	8	---	---	---	---					T	100369721	-	T	100369720	6	5	243	0	1	1	1	0	0	0	0	0	17609	928	32	0		0	ZAN	7	100369720	RNA	INS	-	TCGA-CV-5979-01A-11D-1683-08		100369720	58768943	13	43908											
ANK1	286	broad.mit.edu	37	chr8	41530033	41530033	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggcagcttctcttctgaCctctgaccttcctcctgttc	3	15	6	17	0	3	2	0	2	3	0	7	2	5	2	5	1	1	3	5	1	0	4			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr8:41530033C>G	ENST00000396942.1	-	38	5018	c.4935G>C	c.(4933-4935)agG>agC	p.R1645S	ANK1_ENST00000265709.8_Missense_Mutation_p.R1686S|ANK1_ENST00000352337.4_Missense_Mutation_p.R1645S|ANK1_ENST00000289734.7_Missense_Mutation_p.R1645S|ANK1_ENST00000347528.4_Missense_Mutation_p.R1645S|ANK1_ENST00000379758.2_Missense_Mutation_p.R1645S|ANK1_ENST00000396945.1_Missense_Mutation_p.R1645S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1645	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTCTTCTGACCTCTGACCTT	0.537													7	177					0	0	0	0	G	41530033	C	G	41530033	3	3	243	1	0	0	0	0	1	0	0	0	620	506	18	4	1056	4	ANK1	8	41530033	Missense_Mutation	SNP	C	TCGA-CV-5979-01A-11D-1683-08		41530033	104833989	14	43909											
FAM135B	51059	broad.mit.edu	37	chr8	139164859	139164859	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccctcttgatctattcccTttcctagagtacttaattca	8	17	3	13	0	3	2	1	1	2	1	6	2	6	2	4	0	1	1	4	0	4	8			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr8:139164859T>A	ENST00000395297.1	-	13	2029	c.1859A>T	c.(1858-1860)aAg>aTg	p.K620M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	620										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATCTATTCCCTTTCCTAGAGT	0.473										HNSCC(54;0.14)			39	88					0	0	0	0	A	139164859	T	A	139164859	3	1	243	1	0	0	0	0	1	0	0	0	5490	1609	56	5	2393	5	FAM135B	8	139164859	Missense_Mutation	SNP	T	TCGA-CV-5979-01A-11D-1683-08	97634826	139164859	7199163	15	43910											
PFKP	5214	broad.mit.edu	37	chr10	3178006	3178006	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttttcaacctgtggcagAgctgaagaagcaaacggatt	13	11	10	7	1	1	3	1	1	0	2	1	4	1	4	1	2	4	3	1	2	5	4			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr10:3178006A>G	ENST00000381075.2	+	23	2401	c.2177A>G	c.(2176-2178)gAg>gGg	p.E726G	PFKP_ENST00000381125.4_Missense_Mutation_p.E734G|PFKP_ENST00000381072.1_Missense_Mutation_p.E152G	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	734					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	p.E734G(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCTGTGGCAGAGCTGAAGAAG	0.413													26	6					0	0	0	0	G	3178006	A	G	3178006	3	3	243	1	0	0	0	0	1	0	0	0	11838	304	11	5	2283	5	PFKP	10	3178006	Missense_Mutation	SNP	A	TCGA-CV-5979-01A-11D-1683-08		3178006	132356741	16	43911											
TCF7L2	6934	broad.mit.edu	37	chr10	114919707	114919707	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctaagaaatgccgagcGcgctttggccttgatcaaca	10	9	10	12	3	1	2	1	1	0	1	2	3	2	2	3	1	3	2	3	1	3	3			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr10:114919707G>A	ENST00000355995.4	+	14	1905	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A	TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000369397.4_Silent_p.A443A|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000542695.1_Silent_p.A182A|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000352065.5_Silent_p.A443A|TCF7L2_ENST00000536810.1_Silent_p.A449A|TCF7L2_ENST00000534894.1_Silent_p.A466A|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000369386.1_Silent_p.A92A			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	466	Promoter-specific activation domain.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AATGCCGAGCGCGCTTTGGCC	0.512			T	VTI1A	colorectal								17	17					0	0	0	0	A	114919707	G	A	114919707	2	1	243	1	0	0	0	0	0	0	0	1	15792	1074	38	1		1	TCF7L2	10	114919707	Silent	SNP	G	TCGA-CV-5979-01A-11D-1683-08	111741701	114919707	20615040	17	43912											
KNDC1	85442	broad.mit.edu	37	chr10	135026377	135026377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggccctacttcctgaCggagtacagcactcaccagc	10	6	11	14	1	1	1	1	1	0	0	2	3	2	2	3	3	4	2	3	3	3	3			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr10:135026377C>T	ENST00000304613.3	+	24	4415	c.4394C>T	c.(4393-4395)aCg>aTg	p.T1465M	KNDC1_ENST00000368572.2_Missense_Mutation_p.T1467M			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1465					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.T1465M(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TACTTCCTGACGGAGTACAGC	0.657													17	22					0	0	0	0	T	135026377	C	T	135026377	3	4	243	1	0	0	0	0	1	0	0	0	8478	536	19	1	4488	1	KNDC1	10	135026377	Missense_Mutation	SNP	C	TCGA-CV-5979-01A-11D-1683-08	20106670	135026377	508370	18	43913											
ODF3	113746	broad.mit.edu	37	chr11	198284	198284	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggacaaaggcattccgAgtggacagcaccccaggtcc	10	4	12	15	2	0	0	0	0	0	0	2	3	2	2	5	4	1	2	5	4	1	1			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr11:198284A>G	ENST00000325113.4	+	4	713	c.396A>G	c.(394-396)cgA>cgG	p.R132R	BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Silent_p.R132R	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	132					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCATTCCGAGTGGACAGCA	0.607													7	19					0	0	0	0	G	198284	A	G	198284	2	3	243	1	0	0	0	0	0	0	0	1	10900	291	11	5		5	ODF3	11	198284	Silent	SNP	A	TCGA-CV-5979-01A-11D-1683-08		198284	134808232	19	43914											
MRPL17	63875	broad.mit.edu	37	chr11	6704488	6704488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcccatacggcgaaataCgcggccatgggagatcgctg	10	5	15	11	5	0	1	0	0	0	1	1	4	0	1	2	4	2	1	2	4	3	2			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr11:6704488C>T	ENST00000288937.6	-	1	144	c.40G>A	c.(40-42)Gta>Ata	p.V14I		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	14					translation	ribosome	protein domain specific binding|structural constituent of ribosome			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CGGCGAAATACGCGGCCATGG	0.637											OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	33					0	0	0	0	T	6704488	C	T	6704488	3	4	243	1	0	0	0	0	1	0	0	0	9852	536	19	1	499	1	MRPL17	11	6704488	Missense_Mutation	SNP	C	TCGA-CV-5979-01A-11D-1683-08	6506204	6704488	128302028	20	43915											
MTMR2	8898	broad.mit.edu	37	chr11	95569371	95569371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccagagctctaggtggcGcatgctggctactggataaa	10	8	12	11	1	1	1	0	0	1	1	1	2	1	2	1	4	3	4	1	4	4	3			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr11:95569371G>A	ENST00000393223.3	-	16	2157	c.1495C>T	c.(1495-1497)Cgc>Tgc	p.R499C	MTMR2_ENST00000346299.5_Missense_Mutation_p.R571C|MTMR2_ENST00000409459.1_Missense_Mutation_p.R499C|MTMR2_ENST00000352297.7_Missense_Mutation_p.R499C	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	571	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTAGGTGGCGCATGCTGGCT	0.453													5	291					0	0	0	0	A	95569371	G	A	95569371	3	1	243	1	0	0	0	0	1	0	0	0	10014	1087	38	1	228	1	MTMR2	11	95569371	Missense_Mutation	SNP	G	TCGA-CV-5979-01A-11D-1683-08	88864883	95569371	39437145	21	43916											
MYL6B	140465	broad.mit.edu	37	chr12	56547746	56547746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgaagaaaccagcagggcCctccatctccaaacctgctg	11	6	9	15	1	1	2	0	1	1	1	3	2	2	2	5	1	4	2	5	1	3	0			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr12:56547746C>A	ENST00000553066.1	+	2	466	c.44C>A	c.(43-45)cCc>cAc	p.P15H	RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000207437.5_Missense_Mutation_p.P15H|MYL6B_ENST00000550443.1_Missense_Mutation_p.P15H|MYL6B_ENST00000552568.1_Missense_Mutation_p.P15H|MYL6B_ENST00000550152.1_3'UTR			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	15					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CCAGCAGGGCCCTCCATCTCC	0.587													3	37					0.004672	0.00499421	1	0	A	56547746	C	A	56547746	3	1	243	1	0	0	0	0	1	0	0	0	10122	623	22	4	46	4	MYL6B	12	56547746	Missense_Mutation	SNP	C	TCGA-CV-5979-01A-11D-1683-08		56547746	77304149	22	43917											
RFX4	5992	broad.mit.edu	37	chr12	107113755	107113755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatatcaggagtttgacCatctcttggaggagcagtct	10	12	11	8	0	3	1	1	1	2	0	4	4	3	4	1	3	1	3	1	3	2	4			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr12:107113755C>A	ENST00000392842.1	+	12	1570	c.1156C>A	c.(1156-1158)Cat>Aat	p.H386N	RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000357881.4_Missense_Mutation_p.H395N|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.H292N	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	386	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding	p.H386N(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GGAGTTTGACCATCTCTTGGA	0.473													16	39					8.28177e-16	1.0479e-15	1	0	A	107113755	C	A	107113755	3	1	243	1	0	0	0	0	1	0	0	0	13347	594	21	4	1375	4	RFX4	12	107113755	Missense_Mutation	SNP	C	TCGA-CV-5979-01A-11D-1683-08	50566009	107113755	26738140	23	43918											
OR4Q3	441669	broad.mit.edu	37	chr14	20216155	20216155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaagtcatcaagctggcctGcatggacacctatgtggtag	11	9	11	10	0	2	0	2	0	0	0	2	1	2	1	2	3	2	3	2	3	4	2			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr14:20216155G>A	ENST00000331723.1	+	1	569	c.569G>A	c.(568-570)tGc>tAc	p.C190Y		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGCTGGCCTGCATGGACACC	0.483													17	53					0	0	0	0	A	20216155	G	A	20216155	3	1	243	1	0	0	0	0	1	0	0	0	11152	1319	46	4	571	4	OR4Q3	14	20216155	Missense_Mutation	SNP	G	TCGA-CV-5979-01A-11D-1683-08		20216155	87133385	24	43919											
RPGRIP1	57096	broad.mit.edu	37	chr14	21762877	21762877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccttgagcaggatgaacCgggaggaattggaggacagt	12	6	15	8	1	0	2	0	2	0	0	0	7	0	7	2	5	2	1	2	5	2	2			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr14:21762877C>T	ENST00000206660.6	+	2	127	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R43W|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.R43W|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.R43W			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	43					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGGATGAACCGGGAGGAATT	0.408													16	25					0	0	0	0	T	21762877	C	T	21762877	3	4	243	1	0	0	0	0	1	0	0	0	13634	643	23	1	133	1	RPGRIP1	14	21762877	Missense_Mutation	SNP	C	TCGA-CV-5979-01A-11D-1683-08	1546722	21762877	85586663	25	43920											
BRF1	2972	broad.mit.edu	37	chr14	105692446	105692446	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggccccccttggcctttggCcggctgttttctagttcaat	4	14	10	13	1	2	0	1	0	1	0	2	0	2	0	5	4	0	3	5	4	2	6			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr14:105692446C>T	ENST00000546474.1	-	10	15967	c.1008G>A	c.(1006-1008)cgG>cgA	p.R336R	BRF1_ENST00000379937.2_Silent_p.R309R|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000327359.3_Silent_p.R221R|BRF1_ENST00000551787.1_Silent_p.R132R|BRF1_ENST00000440513.3_Silent_p.R221R|BRF1_ENST00000392557.4_Silent_p.R132R|BRF1_ENST00000446501.2_Silent_p.R98R	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	336					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TGGCCTTTGGCCGGCTGTTTT	0.463													4	125					0	0	0	0	T	105692446	C	T	105692446	2	4	243	1	0	0	0	0	0	0	0	1	1518	726	26	4		4	BRF1	14	105692446	Silent	SNP	C	TCGA-CV-5979-01A-11D-1683-08	83929569	105692446	1657094	26	43921											
MAP1A	4130	broad.mit.edu	37	chr15	43821514	43821514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggccccaggcaaggccaagCcagcgtcccctgcacggcgt	7	3	14	17	3	0	0	0	0	0	0	1	0	1	0	6	4	3	2	6	4	2	0			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr15:43821514C>A	ENST00000382031.1	+	5	8588	c.8557C>A	c.(8557-8559)Cca>Aca	p.P2853T	MAP1A_ENST00000399453.1_Missense_Mutation_p.P2615T|MAP1A_ENST00000300231.5_Missense_Mutation_p.P2615T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2615						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAAGGCCAAGCCAGCGTCCCC	0.662													25	22					2.79863e-10	3.33683e-10	1	0	A	43821514	C	A	43821514	3	1	243	1	0	0	0	0	1	0	0	0	9296	739	26	4	7845	4	MAP1A	15	43821514	Missense_Mutation	SNP	C	TCGA-CV-5979-01A-11D-1683-08		43821514	58709878	27	43922											
CEP152	22995	broad.mit.edu	37	chr15	49097837	49097837	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgccacactgccaaagtCtaatgacatggtcctcctgt	10	11	8	12	0	1	1	0	1	1	0	3	1	3	1	4	1	2	0	4	1	3	2			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr15:49097837C>A	ENST00000380950.2	-	2	197	c.10G>T	c.(10-12)Gac>Tac	p.D4Y	CEP152_ENST00000325747.5_Missense_Mutation_p.D4Y|CEP152_ENST00000399334.3_Missense_Mutation_p.D4Y	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	4					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGCCAAAGTCTAATGACATG	0.398													4	63					2.56e-06	2.99472e-06	1	0	A	49097837	C	A	49097837	3	1	243	1	0	0	0	0	1	0	0	0	3277	913	32	2	5054	2	CEP152	15	49097837	Missense_Mutation	SNP	C	TCGA-CV-5979-01A-11D-1683-08	5276323	49097837	53433555	28	43923											
TEX9	374618	broad.mit.edu	37	chr15	56665657	56665657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcgtttaaatgcagaattGcaggcaaaaacagctgacgt	15	8	11	7	2	0	2	0	1	0	1	0	2	0	2	0	2	4	5	0	2	5	3			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr15:56665657G>T	ENST00000561221.2	+	3	143	c.138G>T	c.(136-138)ttG>ttT	p.L46F	TEX9_ENST00000352903.2_Missense_Mutation_p.L46F|TEX9_ENST00000558083.2_5'UTR|TEX9_ENST00000537232.1_5'UTR|TEX9_ENST00000559142.1_3'UTR			Q8N6V9	TEX9_HUMAN	testis expressed 9	46										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		ATGCAGAATTGCAGGCAAAAA	0.274													10	10					1.61879e-10	1.96794e-10	1	0	T	56665657	G	T	56665657	3	4	243	1	0	0	0	0	1	0	0	0	15878	1310	46	4	148	4	TEX9	15	56665657	Missense_Mutation	SNP	G	TCGA-CV-5979-01A-11D-1683-08	7567820	56665657	45865735	29	43924											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445930	87445930	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgcagggggcacacttatTtgcacattattaggacagga	12	11	11	7	0	0	0	0	0	0	0	0	2	0	2	0	4	2	3	0	4	3	5			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr16:87445930T>G	ENST00000268616.4	-	12	2203	c.1986A>C	c.(1984-1986)caA>caC	p.Q662H		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	662					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	p.Q662H(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCACACTTATTTGCACATTAT	0.532													127	84					0	0	0	0	G	87445930	T	G	87445930	3	3	243	1	0	0	0	0	1	0	0	0	17678	1838	64	5	871	5	ZCCHC14	16	87445930	Missense_Mutation	SNP	T	TCGA-CV-5979-01A-11D-1683-08		87445930	2908823	30	43925											
C17orf97	400566	broad.mit.edu	37	chr17	263553	263553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggccctcaagggcttccacCccgaccccaaggccctcaag	9	4	9	19	1	2	0	2	0	0	0	3	1	3	0	7	3	0	1	7	3	3	1	rs71369085		TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:263553C>A	ENST00000360127.6	+	2	935	c.919C>A	c.(919-921)Ccc>Acc	p.P307T	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	337	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GGGCTTCCACCCCGACCCCAA	0.672													4	44					0.150653	0.153123	1	0	A	263553	C	A	263553	3	1	243	1	0	0	0	0	1	0	0	0	1909	623	22	4		4	C17orf97	17	263553	Missense_Mutation	SNP	C	TCGA-CV-5979-01A-11D-1683-08		263553	80931657	31	43926											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	28					0	0	0	0	T	7577538	C	T	7577538	3	4	243	1	0	0	0	0	1	0	0	0	16476	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-CV-5979-01A-11D-1683-08	7313985	7577538	73617672	32	43927											
KRT14	3861	broad.mit.edu	37	chr17	39740135	39740135	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgtccatctccacattGacatctccacccacctggcc	8	8	6	19	1	2	1	0	1	2	0	5	1	3	1	6	1	1	1	6	1	0	1			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:39740135G>T	ENST00000167586.6	-	4	890	c.804C>A	c.(802-804)gtC>gtA	p.V268V		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	268	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TCTCCACATTGACATCTCCAC	0.567													31	44					1.75199e-13	2.17246e-13	1	0	T	39740135	G	T	39740135	2	4	243	1	0	0	0	0	0	0	0	1	8503	1277	45	2		2	KRT14	17	39740135	Silent	SNP	G	TCGA-CV-5979-01A-11D-1683-08	32162597	39740135	41455075	33	43928											
MRPL27	51264	broad.mit.edu	37	chr17	48447949	48447949	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttagcaaggatgtaacTgcagagaaaacagaaacatt	17	7	11	6	0	0	2	0	0	0	2	0	4	0	3	0	2	5	4	0	2	6	3			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:48447949T>A	ENST00000442592.3	-	2	77		c.e2-2		MRPL27_ENST00000507088.1_Splice_Site|MRPL27_ENST00000503633.1_Splice_Site|MRPL27_ENST00000511860.1_Splice_Site|MRPL27_ENST00000225969.4_Splice_Site			Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27						translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			AGGATGTAACTGCAGAGAAAA	0.498													5	147					0	0	0	0	A	48447949	T	A	48447949	5	1	243	1	0	0	0	0	0	0	1	0	9861	1594	55	5	419	5	MRPL27	17	48447949	Splice_Site	SNP	T	TCGA-CV-5979-01A-11D-1683-08	8707814	48447949	32747261	34	43929											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282113	71282113	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcatcgaggagggggTcaggggaatgtggacccgcg	7	6	18	10	3	2	0	2	0	0	0	3	4	2	3	2	6	1	1	2	6	1	0			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:71282113T>C	ENST00000335793.3	-	2	921	c.527A>G	c.(526-528)gAc>gGc	p.D176G	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.D106G			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	176					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GAGGAGGGGGTCAGGGGAATG	0.657													25	28					0	0	0	0	C	71282113	T	C	71282113	3	2	243	1	0	0	0	0	1	0	0	0	3107	1667	58	5	547	5	CDC42EP4	17	71282113	Missense_Mutation	SNP	T	TCGA-CV-5979-01A-11D-1683-08	22834164	71282113	9913097	35	43930											
RNF213	57674	broad.mit.edu	37	chr17	78326742	78326742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttcactcttcacagggCtgtggcagtctgtccacatc	6	12	10	13	0	4	0	2	0	2	0	6	0	5	0	1	3	0	3	1	3	0	2			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:78326742C>A	ENST00000582970.1	+	33	10449	c.10306C>A	c.(10306-10308)Ctg>Atg	p.L3436M	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L3485M|RNF213_ENST00000336301.6_Missense_Mutation_p.L1509M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTCACAGGGCTGTGGCAGTC	0.562													9	139					0.000673444	0.000745599	1	0	A	78326742	C	A	78326742	3	1	243	1	0	0	0	0	1	0	0	0	13562	796	28	4	10751	4	RNF213	17	78326742	Missense_Mutation	SNP	C	TCGA-CV-5979-01A-11D-1683-08	7044629	78326742	2868468	36	43931											
REXO1	57455	broad.mit.edu	37	chr19	1818781	1818781	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcgggaaggggtagccGttctccttgagctggtcctg	4	10	18	9	2	1	1	0	1	1	0	3	2	2	2	3	5	3	3	3	5	2	3	rs138422554	by1000genomes	TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr19:1818781G>A	ENST00000170168.4	-	9	2920	c.2826C>T	c.(2824-2826)aaC>aaT	p.N942N		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	942						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		AGGGGTAGCCGTTCTCCTTGA	0.667													11	19					0	0	0	0	A	1818781	G	A	1818781	2	1	243	1	0	0	0	0	0	0	0	1	13323	1136	40	1		1	REXO1	19	1818781	Silent	SNP	G	TCGA-CV-5979-01A-11D-1683-08		1818781	57310202	37	43932											
ZNF414	84330	broad.mit.edu	37	chr19	8576734	8576734	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgcgggcggctctcggTccagggccgggggtggcggc	1	4	22	14	7	1	0	0	0	1	0	3	0	2	0	3	9	0	1	3	9	0	0			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr19:8576734T>A	ENST00000393927.4	-	5	754	c.641A>T	c.(640-642)gAc>gTc	p.D214V	ZNF414_ENST00000255616.8_Missense_Mutation_p.D214V	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						CGGCTCTCGGTCCAGGGCCGG	0.746													5	3					0	0	0	0	A	8576734	T	A	8576734	3	1	243	1	0	0	0	0	1	0	0	0	17986	1667	58	5	561	5	ZNF414	19	8576734	Missense_Mutation	SNP	T	TCGA-CV-5979-01A-11D-1683-08	6757953	8576734	50552249	38	43933											
SGK2	10110	broad.mit.edu	37	chr20	42208658	42208658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccataaactgggatgAcctgtaccacaagaggctaa	14	6	9	12	0	0	2	0	1	0	1	0	3	0	3	4	2	3	2	4	2	5	3			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr20:42208658A>G	ENST00000373100.1	+	13	1356	c.896A>G	c.(895-897)gAc>gGc	p.D299G	SGK2_ENST00000423407.3_Missense_Mutation_p.D299G|SGK2_ENST00000373092.3_Missense_Mutation_p.D299G|SGK2_ENST00000426287.1_Missense_Mutation_p.D325G|SGK2_ENST00000341458.4_Missense_Mutation_p.D359G|SGK2_ENST00000373077.1_Missense_Mutation_p.D298G			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	359	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	p.D359G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AACTGGGATGACCTGTACCAC	0.498													19	28					0	0	0	0	G	42208658	A	G	42208658	3	3	243	1	0	0	0	0	1	0	0	0	14296	275	10	5	1118	5	SGK2	20	42208658	Missense_Mutation	SNP	A	TCGA-CV-5979-01A-11D-1683-08		42208658	20816862	39	43934											
TNFRSF6B	8771	broad.mit.edu	37	chr20	62328365	62328365	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgccactacacgcagttctGgaactacctagagcgctgcc	9	7	10	15	3	1	1	0	0	1	1	1	2	1	2	3	1	5	3	3	1	4	4			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr20:62328365G>A	ENST00000369996.1	+	1	345	c.245G>A	c.(244-246)tGg>tAg	p.W82*	RTEL1_ENST00000318100.4_Silent_p.L1384L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L1384L	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	82					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			ACGCAGTTCTGGAACTACCTA	0.697													5	14					0	0	0	0	A	62328365	G	A	62328365	4	1	243	1	0	0	0	0	0	1	0	0	16392	1357	47	4	247	4	TNFRSF6B	20	62328365	Nonsense_Mutation	SNP	G	TCGA-CV-5979-01A-11D-1683-08	20119707	62328365	697155	40	43935											
BAGE2	85319	broad.mit.edu	37	chr21	11058340	11058340	+	RNA	SNP	A	A	C																															atcgctgaaaggggtaaaggAgagaaatctctttataaaac																								rs28617310	by1000genomes	TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363													6	78					0	0	0	0	C	11058340	A	C	11058340	1	2	243	0	1	0	0	0	0	0	0	0	1296	319	11	5		5	BAGE2	21	11058340	RNA	SNP	A	TCGA-CV-5979-01A-11D-1683-08		11058340	37071555	41	43936	335	2									
BAGE2	85319	broad.mit.edu	37	chr21	11058348	11058348	+	RNA	SNP	C	C	A																															aaggggtaaaggagagaaatCtctttataaaaccttgaaaa																										TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr21:11058348C>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGAGAGAAATCTCTTTATAAA	0.343													5	68					0.014758	0.0152499	1	0	A	11058348	C	A	11058348	1	1	243	0	1	0	0	0	0	0	0	0	1296	928	32	2		2	BAGE2	21	11058348	RNA	SNP	C	TCGA-CV-5979-01A-11D-1683-08	8	11058348	37071547	42	43937	335	2									
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047662	46047662	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgctgtaagcctgtcTgctgcaaacccatctgctgt	6	13	9	13	0	3	0	0	0	3	0	3	0	3	0	2	0	6	5	2	0	2	1			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr21:46047662T>A	ENST00000397911.3	+	1	623	c.574T>A	c.(574-576)Tgc>Agc	p.C192S	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	192	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TAAGCCTGTCTGCTGCAAACC	0.597													9	225					0	0	0	0	A	46047662	T	A	46047662	3	1	243	1	0	0	0	0	1	0	0	0	8568	1580	55	5	576	5	KRTAP10-9	21	46047662	Missense_Mutation	SNP	T	TCGA-CV-5979-01A-11D-1683-08	34989314	46047662	2082233	43	43938											
IL3RA	3563	broad.mit.edu	37	chrX	1484134	1484134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgagcgcctggagcacccCccagcgcttcggtgagtggg	5	7	15	14	3	0	2	0	2	0	0	1	3	0	3	4	3	3	2	4	3	0	2			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chrX:1484134C>T	ENST00000331035.4	+	9	1212	c.863C>T	c.(862-864)cCc>cTc	p.P288L	IL3RA_ENST00000381469.2_Missense_Mutation_p.P210L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	288						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGGAGCACCCCCCAGCGCTTC	0.652													15	36					0	0	0	0	T	1484134	C	T	1484134	3	4	243	1	0	0	0	0	1	0	0	0	7748	623	22	4	893	4	IL3RA	23	1484134	Missense_Mutation	SNP	C	TCGA-CV-5979-01A-11D-1683-08		1484134	153786426	44	43939											
BEND2	139105	broad.mit.edu	37	chrX	18195875	18195875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tactctgacatttctttttgGatcaccaagatagcctttaa	11	16	5	9	0	3	2	1	1	2	1	3	3	3	3	2	1	2	0	2	1	4	7			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chrX:18195875G>A	ENST00000380033.4	-	10	1576	c.1444C>T	c.(1444-1446)Cca>Tca	p.P482S	BEND2_ENST00000380030.3_Missense_Mutation_p.P391S	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	482										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTTCTTTTTGGATCACCAAGA	0.378													14	107					0	0	0	0	A	18195875	G	A	18195875	3	1	243	1	0	0	0	0	1	0	0	0	1402	1174	41	2	1001	2	BEND2	23	18195875	Missense_Mutation	SNP	G	TCGA-CV-5979-01A-11D-1683-08	16711741	18195875	137074685	45	43940											
TCEAL3	85012	broad.mit.edu	37	chrX	102864204	102864204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagccaggaaaagcagggcaGgtccgaaggtgagggcaagc	14	2	17	8	1	0	1	0	1	0	0	1	3	1	2	2	5	3	3	2	5	5	0			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chrX:102864204G>A	ENST00000372628.1	+	3	570	c.212G>A	c.(211-213)aGg>aAg	p.R71K	TCEAL3_ENST00000243286.3_Missense_Mutation_p.R71K|TCEAL3_ENST00000372627.5_Missense_Mutation_p.R71K|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	71	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R71K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAGCAGGGCAGGTCCGAAGGT	0.622													3	67					0	0	0	0	A	102864204	G	A	102864204	3	1	243	1	0	0	0	0	1	0	0	0	15766	1000	35	4	214	4	TCEAL3	23	102864204	Missense_Mutation	SNP	G	TCGA-CV-5979-01A-11D-1683-08	84668329	102864204	52406356	46	43941											
MEGF6	1953	broad.mit.edu	37	chr1	3422007	3422007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgacagcgctcgccccGgaagccagccttgcaggagc	7	5	13	16	3	0	1	0	1	0	0	1	3	0	3	5	2	6	2	5	2	1	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:3422007G>A	ENST00000356575.4	-	16	2258	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	MEGF6_ENST00000294599.4_Missense_Mutation_p.R573W	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	678						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGCTCGCCCCGGAAGCCAGCC	0.697													5	9					0	0	0	0	A	3422007	G	A	3422007	3	1	244	1	0	0	0	0	1	0	0	0	9531	1115	39	1	2681	1	MEGF6	1	3422007	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08		3422007	245828614	1	43942											
SPEN	23013	broad.mit.edu	37	chr1	16203028	16203028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaggagtcggtcaccaCattcatcccagtctagaaat	13	8	8	12	1	3	1	2	0	1	1	5	2	4	2	2	2	1	1	2	2	2	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:16203028C>T	ENST00000375759.3	+	3	940	c.736C>T	c.(736-738)Cat>Tat	p.H246Y	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	246	Arg-rich.|Ser-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCGGTCACCACATTCATCCCA	0.542													39	35					0	0	0	0	T	16203028	C	T	16203028	3	4	244	1	0	0	0	0	1	0	0	0	15128	478	17	4	746	4	SPEN	1	16203028	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	12781021	16203028	233047593	2	43943											
HSPG2	3339	broad.mit.edu	37	chr1	22169404	22169404	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgtagatgggctgggcCagtcctggagctgtgggcac	6	9	17	9	1	0	1	0	0	0	1	2	3	1	2	2	4	1	4	2	4	1	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:22169404C>T	ENST00000374695.3	-	67	8848	c.8769G>A	c.(8767-8769)ctG>ctA	p.L2923L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2923	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGGCTGGGCCAGTCCTGGAG	0.637													5	38					0	0	0	0	T	22169404	C	T	22169404	2	4	244	1	0	0	0	0	0	0	0	1	7483	581	21	4		4	HSPG2	1	22169404	Silent	SNP	C	TCGA-CV-6003-01A-11D-1683-08	5966376	22169404	227081217	3	43944											
TCEA3	6920	broad.mit.edu	37	chr1	23724057	23724057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcgatttctgatgcCatcttgtcacagttgactcc	7	16	7	11	1	4	3	1	3	3	0	6	4	5	3	2	0	1	1	2	0	0	4			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:23724057C>T	ENST00000450454.2	-	7	751	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	215	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TTTCTGATGCCATCTTGTCAC	0.498													12	59					0	0	0	0	T	23724057	C	T	23724057	3	4	244	1	0	0	0	0	1	0	0	0	15763	594	21	4	421	4	TCEA3	1	23724057	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	1554653	23724057	225526564	4	43945											
GRHL3	57822	broad.mit.edu	37	chr1	24663602	24663602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatcctgaaaacctcccCggaacccccatgtccagagg	12	6	8	15	1	0	3	0	1	0	2	3	4	3	4	7	2	2	0	7	2	4	1	rs149044763	by1000genomes	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:24663602C>T	ENST00000361548.4	+	5	877	c.647C>T	c.(646-648)cCg>cTg	p.P216L	GRHL3_ENST00000356046.2_Missense_Mutation_p.P170L|GRHL3_ENST00000350501.5_Missense_Mutation_p.P216L|GRHL3_ENST00000342072.4_Missense_Mutation_p.P123L|GRHL3_ENST00000236255.4_Missense_Mutation_p.P221L	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	216					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		AAAACCTCCCCGGAACCCCCA	0.567													8	27					0	0	0	0	T	24663602	C	T	24663602	3	4	244	1	0	0	0	0	1	0	0	0	6815	652	23	1	701	1	GRHL3	1	24663602	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	939545	24663602	224587019	5	43946											
TFAP2E	339488	broad.mit.edu	37	chr1	36060122	36060122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttagcctcatcacccatGgcttcggtgggcctgccatc	6	11	9	15	1	2	0	2	0	0	0	4	0	2	0	4	3	2	1	4	3	1	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:36060122G>T	ENST00000373235.3	+	7	1382	c.1174G>T	c.(1174-1176)Ggc>Tgc	p.G392C		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	392	H-S-H (helix-span-helix), dimerization.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CATCACCCATGGCTTCGGTGG	0.587													35	44					4.11147e-13	4.50448e-13	1	0	T	36060122	G	T	36060122	3	4	244	1	0	0	0	0	1	0	0	0	15885	1348	47	4	1200	4	TFAP2E	1	36060122	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	11396520	36060122	213190499	6	43947											
CNN3	1266	broad.mit.edu	37	chr1	95367290	95367290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaacgtcttgtttgtttttCtgcatacttaactccaatgt	10	18	5	8	1	2	0	0	0	2	0	3	0	3	0	1	0	4	3	1	0	5	6			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:95367290C>G	ENST00000370206.4	-	5	819	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	CNN3_ENST00000545882.1_Missense_Mutation_p.E105Q|CNN3_ENST00000538964.1_Missense_Mutation_p.E146Q|CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000394202.4_Missense_Mutation_p.E100Q	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	146					actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GTTTGTTTTTCTGCATACTTA	0.363													9	33					0	0	0	0	G	95367290	C	G	95367290	3	3	244	1	0	0	0	0	1	0	0	0	3641	922	32	2	565	2	CNN3	1	95367290	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	59307168	95367290	153883331	7	43948											
CLCC1	23155	broad.mit.edu	37	chr1	109479802	109479803	+	Frame_Shift_Del	DEL	TC	TC	-																															tctgaaatctcaagtcaacaTctctctctctcaaaatctct																										TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:109479802_109479803delTC	ENST00000369971.2	-	10	1408_1409	c.1279_1280delGA	c.(1279-1281)tfs	p.D427fs	CLCC1_ENST00000369970.3_Frame_Shift_Del_p.D377fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.D427fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.D242fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.D242fs|CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.D306fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.D377fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.D306fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	427						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CAAGTCAACATCTCTCTCTCTC	0.52													33	68	---	---	---	---					-	109479803	TC	-	109479802	7	5	244	1	0	1	0	1	0	0	0	0	3490	1435	50	0	383	0	CLCC1	1	109479802	Frame_Shift_Del	DEL	TC	TCGA-CV-6003-01A-11D-1683-08	14112512	109479802	139770819	8	43949											
NOTCH2	4853	broad.mit.edu	37	chr1	120539834	120539834	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcattgacatcagtctcAcatttctgccctgtgaagcc	9	12	6	14	0	4	2	3	2	2	0	5	2	4	2	2	0	2	0	2	0	1	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:120539834A>T	ENST00000256646.2	-	4	756	c.537T>A	c.(535-537)tgT>tgA	p.C179*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	179	EGF-like 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.C179*(1)|p.C140*(1)		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)		CATCAGTCTCACATTTCTGCC	0.552			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				39	51					0	0	0	0	T	120539834	A	T	120539834	4	4	244	1	0	0	0	0	0	1	0	0	10618	157	6	5	7002	5	NOTCH2	1	120539834	Nonsense_Mutation	SNP	A	TCGA-CV-6003-01A-11D-1683-08	11060032	120539834	128710787	9	43950											
NBPF9	400818	broad.mit.edu	37	chr1	144828615	144828615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggatgttattctactcCgtcaatgtactttgaactac	10	15	8	8	1	2	1	1	1	1	0	3	3	3	3	1	2	4	2	1	2	6	6			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:144828615C>A	ENST00000338347.4	+	14	1661	c.1661C>A	c.(1660-1662)cCg>cAg	p.P554Q	NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.P152Q|NBPF9_ENST00000468645.1_3'UTR					neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						TATTCTACTCCGTCAATGTAC	0.453													18	247					4.96729e-08	5.17571e-08	1	0	A	144828615	C	A	144828615	3	1	244	1	0	0	0	0	1	0	0	0	10269	652	23	3	2736	3	NBPF9	1	144828615	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	24288781	144828615	104422006	10	43951											
RNASEL	6041	broad.mit.edu	37	chr1	182555479	182555479	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcctcctttgtctttcGcctcaaattcacatttgctc	6	18	4	13	1	3	1	2	1	1	0	7	1	5	1	3	0	1	1	3	0	1	5			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:182555479G>A	ENST00000367559.3	-	2	716	c.463C>T	c.(463-465)Cga>Tga	p.R155*	RNASEL_ENST00000539397.1_Nonsense_Mutation_p.R155*|RNASEL_ENST00000444138.1_Nonsense_Mutation_p.R155*	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	155					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTTGTCTTTCGCCTCAAATTC	0.468													11	20					0	0	0	0	A	182555479	G	A	182555479	4	1	244	1	0	0	0	0	0	1	0	0	13501	1095	38	1	1786	1	RNASEL	1	182555479	Nonsense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	37726864	182555479	66695142	11	43952											
RBM34	23029	broad.mit.edu	37	chr1	235301488	235301488	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcaggatgaattttacGtctacaccaaaaaaaaaaaa	20	9	5	7	1	2	2	1	2	1	0	2	3	2	3	1	1	2	0	1	1	9	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:235301488G>A	ENST00000408888.3	-	7	933	c.701_splice	c.e7-1	p.R235_splice	RBM34_ENST00000366606.3_Splice_Site_p.R230_splice			P42696	RBM34_HUMAN	RNA binding motif protein 34	235	RRM 1.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TGAATTTTACGTCTACACCAA	0.333													11	15					0	0	0	0	A	235301488	G	A	235301488	5	1	244	1	0	0	0	0	0	0	1	0	13213	1159	40	1	609	1	RBM34	1	235301488	Splice_Site	SNP	G	TCGA-CV-6003-01A-11D-1683-08	52746009	235301488	13949133	12	43953											
FMN2	56776	broad.mit.edu	37	chr1	240256066	240256066	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccagctccagctccagcaAcagcagcagcagcagcagct	11	4	9	17	0	0	0	0	0	0	0	3	0	3	0	3	0	10	9	3	0	1	0			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:240256066A>G	ENST00000319653.9	+	1	887	c.657A>G	c.(655-657)caA>caG	p.Q219Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	219	Gln-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.Q354_Q362delQQLQLQLQQ(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			agctccagcaacagcagcagc	0.672													3	12					0	0	0	0	G	240256066	A	G	240256066	2	3	244	1	0	0	0	0	0	0	0	1	5995	40	2	5		5	FMN2	1	240256066	Silent	SNP	A	TCGA-CV-6003-01A-11D-1683-08	4954578	240256066	8994555	13	43954											
PDCL3	79031	broad.mit.edu	37	chr2	101186128	101186128	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggaaggattatgttcaaGaagttaccaaagctggcgag	14	8	13	6	1	1	1	1	0	0	1	1	4	1	3	1	3	2	3	1	3	6	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:101186128G>C	ENST00000264254.6	+	4	691	c.313G>C	c.(313-315)Gaa>Caa	p.E105Q		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	105					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TTATGTTCAAGAAGTTACCAA	0.428													6	77					0	0	0	0	C	101186128	G	C	101186128	3	2	244	1	0	0	0	0	1	0	0	0	11699	943	33	2	327	2	PDCL3	2	101186128	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08		101186128	142013245	14	43955											
HS6ST1	9394	broad.mit.edu	37	chr2	129026288	129026288	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtgcagcccgaccagtcCgtgccctcgtagcagggcgg	6	5	15	15	5	0	0	0	0	0	0	2	1	1	0	4	2	5	3	4	2	1	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:129026288C>T	ENST00000259241.6	-	2	697	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	228					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CCGACCAGTCCGTGCCCTCGT	0.662													5	67					0	0	0	0	T	129026288	C	T	129026288	2	4	244	1	0	0	0	0	0	0	0	1	7420	639	23	1		1	HS6ST1	2	129026288	Silent	SNP	C	TCGA-CV-6003-01A-11D-1683-08	27840160	129026288	114173085	15	43956											
SCN1A	6323	broad.mit.edu	37	chr2	166908262	166908262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatgacttccagtcaaactCaaagacagtttcatttataa	16	13	4	8	0	3	2	3	1	0	1	4	2	4	2	1	0	1	1	1	0	5	6			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:166908262C>G	ENST00000423058.2	-	6	948	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E311Q|SCN1A_ENST00000409050.1_Missense_Mutation_p.E311Q|SCN1A_ENST00000303395.4_Missense_Mutation_p.E311Q|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	311						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAGTCAAACTCAAAGACAGTT	0.303													8	34					0	0	0	0	G	166908262	C	G	166908262	3	3	244	1	0	0	0	0	1	0	0	0	14001	835	29	2	5182	2	SCN1A	2	166908262	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	37881974	166908262	76291111	16	43957											
CCDC141	285025	broad.mit.edu	37	chr2	179730517	179730517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttatctcgtctctcatggCgcagtactccacactacggg	8	12	8	13	3	3	0	1	0	2	0	6	0	4	0	1	2	2	2	1	2	3	4	rs139607358	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:179730517C>T	ENST00000420890.2	-	17	2818	c.2701G>A	c.(2701-2703)Gcc>Acc	p.A901T	CCDC141_ENST00000295723.5_Missense_Mutation_p.A326T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	326							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTCTCATGGCGCAGTACTCC	0.532													43	197					0	0	0	0	T	179730517	C	T	179730517	3	4	244	1	0	0	0	0	1	0	0	0	2800	768	27	1	1679	1	CCDC141	2	179730517	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	12822255	179730517	63468856	17	43958											
ZNF804A	91752	broad.mit.edu	37	chr2	185802876	185802876	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgatcccaccacatctgTctgtgtagctagtgccccaa	10	10	7	14	0	2	1	0	1	2	0	3	1	3	1	4	0	2	2	4	0	4	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:185802876T>C	ENST00000302277.6	+	4	3347	c.2753T>C	c.(2752-2754)gTc>gCc	p.V918A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	918						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACCACATCTGTCTGTGTAGCT	0.388													23	57					0	0	0	0	C	185802876	T	C	185802876	3	2	244	1	0	0	0	0	1	0	0	0	18263	1667	58	5	2767	5	ZNF804A	2	185802876	Missense_Mutation	SNP	T	TCGA-CV-6003-01A-11D-1683-08	6072359	185802876	57396497	18	43959											
CPS1	1373	broad.mit.edu	37	chr2	211471538	211471538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacttcaatcaatgttgttCgccacttgggcattgtgggt	7	15	11	8	1	2	0	2	0	0	0	3	0	2	0	1	2	1	4	1	2	3	6	rs147443001		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:211471538C>T	ENST00000233072.5	+	18	2261	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C	CPS1_ENST00000451903.2_Missense_Mutation_p.R238C|CPS1_ENST00000430249.2_Missense_Mutation_p.R695C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	689	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAATGTTGTTCGCCACTTGGG	0.468													13	67					0	0	0	0	T	211471538	C	T	211471538	3	4	244	1	0	0	0	0	1	0	0	0	3853	884	31	1	2157	1	CPS1	2	211471538	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	25668662	211471538	31727835	19	43960											
BRPF1	7862	broad.mit.edu	37	chr3	9785382	9785382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaagcagagtgtgggccGctcacggcgtgcaaagatga	11	5	15	10	3	1	3	1	1	0	2	1	3	1	3	1	2	3	4	1	2	2	0			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:9785382G>A	ENST00000383829.2	+	8	2836	c.2432G>A	c.(2431-2433)cGc>cAc	p.R811H	BRPF1_ENST00000302054.3_Missense_Mutation_p.R805H|BRPF1_ENST00000469066.1_3'UTR|BRPF1_ENST00000433861.2_Missense_Mutation_p.R805H|BRPF1_ENST00000457855.1_Missense_Mutation_p.R805H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R804H	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	805	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGTGTGGGCCGCTCACGGCGT	0.592													17	11					0	0	0	0	A	9785382	G	A	9785382	3	1	244	1	0	0	0	0	1	0	0	0	1528	1087	38	1	2458	1	BRPF1	3	9785382	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08		9785382	188237048	20	43961											
RBM5	10181	broad.mit.edu	37	chr3	50144226	50144227	+	Frame_Shift_Del	DEL	AC	AC	-																															tctcagctgcttcagatattAcagagtctccatcctccttt																										TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:50144226_50144227delAC	ENST00000347869.3	+	11	1057_1058	c.882_883delAC	c.(880-885)ttagfs	p.LQ294fs		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	294	RRM 2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCAGATATTACAGAGTCTCCA	0.396													32	19	---	---	---	---					-	50144227	AC	-	50144226	7	5	244	1	0	1	0	1	0	0	0	0	13225	388	14	0	920	0	RBM5	3	50144226	Frame_Shift_Del	DEL	AC	TCGA-CV-6003-01A-11D-1683-08	40358844	50144226	147878204	21	43962											
PVRL3	25945	broad.mit.edu	37	chr3	110830979	110830979	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaatgaaaccataacacAgatttcatgggagaagatac	19	8	8	6	0	1	4	1	1	0	3	1	5	1	4	1	1	3	1	1	1	6	4			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:110830979A>G	ENST00000485303.1	+	2	538	c.263A>G	c.(262-264)cAg>cGg	p.Q88R	PVRL3_ENST00000493615.1_Missense_Mutation_p.Q65R|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Missense_Mutation_p.Q88R	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	88	Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ACCATAACACAGATTTCATGG	0.403													6	93					0	0	0	0	G	110830979	A	G	110830979	3	3	244	1	0	0	0	0	1	0	0	0	12923	188	7	5	269	5	PVRL3	3	110830979	Missense_Mutation	SNP	A	TCGA-CV-6003-01A-11D-1683-08	60686753	110830979	87191451	22	43963											
ABTB1	80325	broad.mit.edu	37	chr3	127394943	127394943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcgggattactatgaCgacttcttgcagcggtgagc	9	9	15	8	3	1	2	0	2	1	0	1	5	1	4	0	4	4	1	0	4	2	4	rs75647091	by1000genomes	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:127394943C>G	ENST00000232744.8	+	4	392	c.306C>G	c.(304-306)gaC>gaG	p.D102E	ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000453791.2_5'UTR			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	102						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						ATTACTATGACGACTTCTTGC	0.642													36	28					0	0	0	0	G	127394943	C	G	127394943	3	3	244	1	0	0	0	0	1	0	0	0	102	535	19	3	320	3	ABTB1	3	127394943	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	16563964	127394943	70627487	23	43964											
SENP2	59343	broad.mit.edu	37	chr3	185347618	185347618	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgtgggaaatccttcatCagcagttgctgtgagaaaac	11	11	12	7	0	2	1	2	1	0	1	3	3	3	2	1	2	3	3	1	2	3	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:185347618C>T	ENST00000296257.5	+	17	1996	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	SENP2_ENST00000545472.1_Nonsense_Mutation_p.Q576*|SENP2_ENST00000427465.2_Nonsense_Mutation_p.Q410*	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	586					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AATCCTTCATCAGCAGTTGCT	0.468													14	80					0	0	0	0	T	185347618	C	T	185347618	4	4	244	1	0	0	0	0	0	1	0	0	14134	827	29	2	1822	2	SENP2	3	185347618	Nonsense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	57952675	185347618	12674812	24	43965											
TP63	8626	broad.mit.edu	37	chr3	189526228	189526229	+	Frame_Shift_Ins	INS	-	-	A																															ctctctctccatcacccgccINSatcccctccaacaccgacta																										TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:189526228_189526229insA	ENST00000264731.3	+	4	581_582	c.492_493insA	c.(490-495)gctcccfs	p.P165fs	TP63_ENST00000437221.1_Frame_Shift_Ins_p.P71fs|TP63_ENST00000392463.2_Frame_Shift_Ins_p.P71fs|TP63_ENST00000440651.2_Frame_Shift_Ins_p.P165fs|TP63_ENST00000449992.1_Intron|TP63_ENST00000320472.5_Frame_Shift_Ins_p.P165fs|TP63_ENST00000456148.1_Frame_Shift_Ins_p.P71fs|TP63_ENST00000392460.3_Frame_Shift_Ins_p.P165fs|TP63_ENST00000418709.2_Frame_Shift_Ins_p.P165fs|TP63_ENST00000382063.4_Intron|TP63_ENST00000392461.3_Frame_Shift_Ins_p.P71fs|TP63_ENST00000354600.5_Frame_Shift_Ins_p.P71fs	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	165					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATCACCCGCCATCCCCTCCAA	0.644										HNSCC(45;0.13)			54	67	---	---	---	---					A	189526229	-	A	189526228	7	5	244	1	0	1	1	0	0	0	0	0	16487	581	21	0	552	0	TP63	3	189526228	Frame_Shift_Ins	INS	-	TCGA-CV-6003-01A-11D-1683-08	4178610	189526228	8496202	25	43966											
NKX6-1	4825	broad.mit.edu	37	chr4	85419045	85419045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaggcggagggcagggcggCccccgaggccacgggcatgg	6	1	21	13	5	0	0	0	0	0	0	0	3	0	1	3	8	0	2	3	8	0	0			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr4:85419045C>T	ENST00000295886.4	-	1	558	c.337G>A	c.(337-339)Gcc>Acc	p.A113T		NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	113	Repressor domain (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		gGCAGGGCGGCCCCCGAGGCC	0.751													2	0					0	0	0	0	T	85419045	C	T	85419045	3	4	244	1	0	0	0	0	1	0	0	0	10527	739	26	4	778	4	NKX6-1	4	85419045	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08		85419045	105735231	26	43967											
FAT4	79633	broad.mit.edu	37	chr4	126411278	126411278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggactgtgcctcccaccCgtgccagaatggtggcagct	6	8	14	13	1	0	1	0	0	0	1	1	2	1	2	4	4	3	2	4	4	1	0			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr4:126411278C>T	ENST00000394329.3	+	17	13314	c.13301C>T	c.(13300-13302)cCg>cTg	p.P4434L	FAT4_ENST00000335110.5_Missense_Mutation_p.P2675L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4434	EGF-like 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCTCCCACCCGTGCCAGAAT	0.607													45	36					0	0	0	0	T	126411278	C	T	126411278	3	4	244	1	0	0	0	0	1	0	0	0	5737	652	23	1	13367	1	FAT4	4	126411278	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	40992233	126411278	64742998	27	43968											
CDH9	1007	broad.mit.edu	37	chr5	26885757	26885757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacagagtagaatcgcaacGagagctcccgtgctcaggcc	12	5	11	13	3	1	3	1	0	0	3	3	4	2	3	2	1	3	4	2	1	3	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:26885757G>A	ENST00000231021.4	-	11	2020	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	616					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GAATCGCAACGAGAGCTCCCG	0.512													12	22					0	0	0	0	A	26885757	G	A	26885757	2	1	244	1	0	0	0	0	0	0	0	1	3146	1045	37	1		1	CDH9	5	26885757	Silent	SNP	G	TCGA-CV-6003-01A-11D-1683-08		26885757	154029503	28	43969											
NNT	23530	broad.mit.edu	37	chr5	43616103	43616103	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagttctggcaatggacCaggttccaagagtcacaatt	12	10	9	10	0	2	1	1	0	1	1	3	2	3	2	2	3	1	3	2	3	4	4			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:43616103C>G	ENST00000264663.5	+	4	756	c.535C>G	c.(535-537)Cag>Gag	p.Q179E	NNT_ENST00000512996.2_Missense_Mutation_p.Q48E|NNT_ENST00000344920.4_Missense_Mutation_p.Q179E	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	179					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGCAATGGACCAGGTTCCAAG	0.423													14	93					0	0	0	0	G	43616103	C	G	43616103	3	3	244	1	0	0	0	0	1	0	0	0	10580	595	21	4	545	4	NNT	5	43616103	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	16730346	43616103	137299157	29	43970											
PCDHA5	56143	broad.mit.edu	37	chr5	140202723	140202723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacaacgctccggcgttcGcgcagccccagtataccgtg	8	6	11	16	7	0	0	0	0	0	0	2	1	1	0	4	1	3	4	4	1	3	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:140202723G>A	ENST00000529859.1	+	1	1363	c.1363G>A	c.(1363-1365)Gcg>Acg	p.A455T	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A455T|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A455T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGCGTTCGCGCAGCCCCA	0.677													29	61					0	0	0	0	A	140202723	G	A	140202723	3	1	244	1	0	0	0	0	1	0	0	0	11598	1087	38	1	1365	1	PCDHA5	5	140202723	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	96586620	140202723	40712537	30	43971											
PCDHA13	56136	broad.mit.edu	37	chr5	140263856	140263856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacggcaacggtgctgttgtCgctggtggagagcggccaag	7	7	17	10	4	0	1	0	0	0	1	1	2	0	1	1	5	3	4	1	5	2	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:140263856C>T	ENST00000289272.2	+	1	2003	c.2003C>T	c.(2002-2004)tCg>tTg	p.S668L	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S668L|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGTTGTCGCTGGTGGAG	0.672													30	38					0	0	0	0	T	140263856	C	T	140263856	3	4	244	1	0	0	0	0	1	0	0	0	11594	893	31	1	2005	1	PCDHA13	5	140263856	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	61133	140263856	40651404	31	43972											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730444	140730444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaacatcagagctctcatcGcttaatcctgactgccatgg	10	10	9	12	1	2	2	2	1	1	1	5	3	3	3	2	2	3	2	2	2	2	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:140730444G>A	ENST00000523390.1	+	1	617	c.617G>A	c.(616-618)cGc>cAc	p.R206H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTCATCGCTTAATCCTG	0.493													32	28					0	0	0	0	A	140730444	G	A	140730444	3	1	244	1	0	0	0	0	1	0	0	0	11633	1087	38	1	619	1	PCDHGB1	5	140730444	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	466588	140730444	40184816	32	43973											
SH3TC2	79628	broad.mit.edu	37	chr5	148427475	148427475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctccagtgcccagagccGcctccgagcagcttcctgta	7	9	9	16	2	1	1	0	0	1	1	4	2	3	1	6	0	4	3	6	0	1	3	rs80338919		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:148427475G>A	ENST00000515425.1	-	3	330	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	SH3TC2_ENST00000512049.1_Missense_Mutation_p.R77W|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	77							binding			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)			GCCCAGAGCCGCCTCCGAGCA	0.522													5	85					0	0	0	0	A	148427475	G	A	148427475	3	1	244	1	0	0	0	0	1	0	0	0	14350	1086	38	1	3697	1	SH3TC2	5	148427475	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	7697031	148427475	32487785	33	43974											
GABRA1	2554	broad.mit.edu	37	chr5	161302579	161302579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttaaggctgacagtgagaGctgaatgtccgatgcatttg	10	11	12	8	1	0	3	0	3	0	1	1	5	1	3	2	1	2	3	2	1	2	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:161302579G>A	ENST00000428797.2	+	7	845	c.490G>A	c.(490-492)Gct>Act	p.A164T	GABRA1_ENST00000444819.1_Missense_Mutation_p.A164T|GABRA1_ENST00000023897.6_Missense_Mutation_p.A164T|GABRA1_ENST00000420560.1_Missense_Mutation_p.A164T|GABRA1_ENST00000393943.4_Missense_Mutation_p.A164T|GABRA1_ENST00000437025.2_Missense_Mutation_p.A164T	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	164					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GACAGTGAGAGCTGAATGTCC	0.373													13	62					0	0	0	0	A	161302579	G	A	161302579	3	1	244	1	0	0	0	0	1	0	0	0	6208	971	34	4	508	4	GABRA1	5	161302579	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	12875104	161302579	19612681	34	43975											
FGFR4	2264	broad.mit.edu	37	chr5	176523713	176523713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgggagggacatcggatGgaccgacccccacactgccc	8	4	13	16	3	0	0	0	0	0	0	1	5	0	4	4	4	2	0	4	4	0	0			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:176523713G>A	ENST00000292408.4	+	16	2369	c.2124G>A	c.(2122-2124)atG>atA	p.M708I	FGFR4_ENST00000502906.1_Missense_Mutation_p.M708I|FGFR4_ENST00000393648.2_Missense_Mutation_p.M640I|FGFR4_ENST00000393637.1_Missense_Mutation_p.M668I|FGFR4_ENST00000292410.3_Missense_Mutation_p.M668I	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	708	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GACATCGGATGGACCGACCCC	0.657										TSP Lung(9;0.080)			4	17					0	0	0	0	A	176523713	G	A	176523713	3	1	244	1	0	0	0	0	1	0	0	0	5913	1348	47	4	2252	4	FGFR4	5	176523713	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	15221134	176523713	4391547	35	43976											
BTNL8	79908	broad.mit.edu	37	chr5	180338567	180338567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcatatcctgttccatgcGgcatgctcatctgagccgag	8	10	11	12	2	2	1	1	1	1	0	4	3	4	1	3	1	4	4	3	1	1	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:180338567G>A	ENST00000231229.4	+	3	860	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	BTNL8_ENST00000340184.4_Missense_Mutation_p.R209Q|BTNL8_ENST00000533815.2_Missense_Mutation_p.R25Q|BTNL8_ENST00000511704.1_Missense_Mutation_p.R93Q|BTNL8_ENST00000508408.1_Missense_Mutation_p.R209Q|BTNL8_ENST00000505126.1_Missense_Mutation_p.R2Q|BTNL8_ENST00000400707.3_Missense_Mutation_p.R84Q	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	209	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTCCATGCGGCATGCTCAT	0.547													39	30					0	0	0	0	A	180338567	G	A	180338567	3	1	244	1	0	0	0	0	1	0	0	0	1576	1116	39	1	662	1	BTNL8	5	180338567	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	3814854	180338567	576693	36	43977											
EHMT2	10919	broad.mit.edu	37	chr6	31864767	31864767	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcagcgggggcctccccCtgggaggggagacaagggac	8	4	17	12	1	1	1	1	0	1	1	3	4	2	3	3	6	1	0	3	6	1	0			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:31864767C>T	ENST00000375537.4	-	2	49		c.e2-1		EHMT2_ENST00000395728.3_Silent_p.Q71Q|EHMT2_ENST00000375528.4_Silent_p.Q71Q|EHMT2_ENST00000375530.4_Splice_Site	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2						DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGGCCTCCCCCTGGGAGGGGA	0.662													5	90					0	0	0	0	T	31864767	C	T	31864767	5	4	244	1	0	0	0	0	0	0	1	0	5020	695	24	4	3698	4	EHMT2	6	31864767	Splice_Site	SNP	C	TCGA-CV-6003-01A-11D-1683-08		31864767	139250300	37	43978											
MCHR2	84539	broad.mit.edu	37	chr6	100382357	100382357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaaaatcaagggtagaggGaaaaaaaaagttgttatcgt	19	8	10	4	1	1	1	1	0	0	1	2	2	1	2	1	2	0	3	1	2	9	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:100382357G>T	ENST00000281806.2	-	5	938	c.624C>A	c.(622-624)ttC>ttA	p.F208L	MCHR2_ENST00000445970.1_Missense_Mutation_p.F208L|MCHR2_ENST00000369212.1_Missense_Mutation_p.F208L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGGGTAGAGGGAAAAAAAAAG	0.343													58	31					7.22619e-39	8.0955e-39	1	0	T	100382357	G	T	100382357	3	4	244	1	0	0	0	0	1	0	0	0	9452	1165	41	2	406	2	MCHR2	6	100382357	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	68517590	100382357	70732710	38	43979											
ROS1	6098	broad.mit.edu	37	chr6	117715330	117715330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttctcggactaaccagttCatccatgatgaaatacattc	13	12	5	11	1	2	2	1	2	1	0	5	3	3	3	2	1	2	1	2	1	3	5			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:117715330C>T	ENST00000368508.3	-	10	1357	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E396K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	387					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTAACCAGTTCATCCATGATG	0.328			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								3	32					0	0	0	0	T	117715330	C	T	117715330	3	4	244	1	0	0	0	0	1	0	0	0	13616	835	29	2	6020	2	ROS1	6	117715330	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	17332973	117715330	53399737	39	43980											
MYCT1	80177	broad.mit.edu	37	chr6	153019042	153019042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacttatttccttttatgcGaacacaagtatatgaggggt	12	14	8	7	1	0	1	0	1	0	0	1	2	1	1	1	2	2	1	1	2	6	6			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:153019042G>A	ENST00000367245.5	+	1	13	c.5G>A	c.(4-6)cGa>cAa	p.R2Q	MYCT1_ENST00000529453.1_Missense_Mutation_p.R2Q	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	2						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CCTTTTATGCGAACACAAGTA	0.323													22	11					0	0	0	0	A	153019042	G	A	153019042	3	1	244	1	0	0	0	0	1	0	0	0	10092	1058	37	1	7	1	MYCT1	6	153019042	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	35303712	153019042	18096025	40	43981											
RBAK	57786	broad.mit.edu	37	chr7	5097370	5097370	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagcagggagaggagccGtggataatgggaggtgaatt	11	8	19	3	1	0	2	0	1	0	1	0	7	0	6	1	6	2	1	1	6	2	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:5097370G>A	ENST00000396912.1	+	4	717	c.198G>A	c.(196-198)ccG>ccA	p.P66P	RBAK_ENST00000407184.1_Silent_p.P66P|RBAK_ENST00000353796.3_Silent_p.P66P|RBAK_ENST00000396904.2_Silent_p.P66P	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	66	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAGAGGAGCCGTGGATAATGG	0.453													19	94					0	0	0	0	A	5097370	G	A	5097370	2	1	244	1	0	0	0	0	0	0	0	1	13182	1132	40	1		1	RBAK	7	5097370	Silent	SNP	G	TCGA-CV-6003-01A-11D-1683-08		5097370	154041293	41	43982											
CHN2	1124	broad.mit.edu	37	chr7	29552210	29552210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgaaaaagacaatttcatGaatgcagaaaatctggggat	19	9	9	4	0	2	4	1	2	1	2	2	5	2	5	0	2	1	1	0	2	7	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:29552210G>A	ENST00000222792.6	+	13	1796	c.1266G>A	c.(1264-1266)atG>atA	p.M422I	CHN2_ENST00000546235.1_Missense_Mutation_p.M407I|CHN2_ENST00000421775.2_Missense_Mutation_p.M228I|CHN2_ENST00000539389.1_Missense_Mutation_p.M278I|CHN2_ENST00000435288.2_Missense_Mutation_p.M146I|CHN2_ENST00000424025.2_Missense_Mutation_p.M241I|CHN2_ENST00000409041.4_Missense_Mutation_p.M286I|CHN2_ENST00000495789.2_Missense_Mutation_p.M435I|CHN2_ENST00000439711.2_Missense_Mutation_p.M240I|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000539406.1_Missense_Mutation_p.M497I	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	422	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						ACAATTTCATGAATGCAGAAA	0.423													21	29					0	0	0	0	A	29552210	G	A	29552210	3	1	244	1	0	0	0	0	1	0	0	0	3392	1290	45	2	1484	2	CHN2	7	29552210	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	24454840	29552210	129586453	42	43983											
FGL2	10875	broad.mit.edu	37	chr7	76826174	76826174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcactgtccagcctccccCcatggtctccatgtcacagt	7	9	7	18	0	2	0	1	0	1	0	5	0	4	0	6	1	2	1	6	1	0	0			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:76826174C>T	ENST00000248598.5	-	2	774	c.742G>A	c.(742-744)Ggg>Agg	p.G248R	CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	248	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CAGCCTCCCCCCATGGTCTCC	0.493													44	65					0	0	0	0	T	76826174	C	T	76826174	3	4	244	1	0	0	0	0	1	0	0	0	5918	623	22	4	581	4	FGL2	7	76826174	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	47273964	76826174	82312489	43	43984											
HYAL4	23553	broad.mit.edu	37	chr7	123516945	123516945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggaagatgtggaacgcGcccagttaccttcacttgaa	13	9	10	9	2	1	2	1	1	0	1	1	4	1	4	2	2	2	1	2	2	5	4	rs138391454	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:123516945G>A	ENST00000223026.4	+	5	1820	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	HYAL4_ENST00000476325.1_Silent_p.A394A	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	394					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TGTGGAACGCGCCCAGTTACC	0.507													36	51					0	0	0	0	A	123516945	G	A	123516945	2	1	244	1	0	0	0	0	0	0	0	1	7519	1074	38	1		1	HYAL4	7	123516945	Silent	SNP	G	TCGA-CV-6003-01A-11D-1683-08	46690771	123516945	35621718	44	43985											
OR6B1	135946	broad.mit.edu	37	chr7	143701141	143701141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttcattctggtgggattcCctgggagcttgagtatgcgg	6	13	15	7	1	2	1	1	1	1	0	3	3	3	3	1	4	2	3	1	4	1	5			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:143701141C>T	ENST00000408922.2	+	1	120	c.52C>T	c.(52-54)Cct>Tct	p.P18S		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GGTGGGATTCCCTGGGAGCTT	0.483													12	16					0	0	0	0	T	143701141	C	T	143701141	3	4	244	1	0	0	0	0	1	0	0	0	11258	623	22	4	54	4	OR6B1	7	143701141	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	20184196	143701141	15437522	45	43986											
ESRP1	54845	broad.mit.edu	37	chr8	95683890	95683890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggggttcacatggttttGaatcaccaggtaagaaagat	13	11	11	6	0	2	3	2	1	0	2	2	3	2	3	1	4	0	3	1	4	3	4			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr8:95683890G>C	ENST00000433389.2	+	11	1633	c.1443G>C	c.(1441-1443)ttG>ttC	p.L481F	ESRP1_ENST00000358397.5_Missense_Mutation_p.L481F|ESRP1_ENST00000454170.2_Missense_Mutation_p.L481F|ESRP1_ENST00000423620.2_Missense_Mutation_p.L481F	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	481	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						ACATGGTTTTGAATCACCAGG	0.383													7	33					0	0	0	0	C	95683890	G	C	95683890	3	2	244	1	0	0	0	0	1	0	0	0	5296	1281	45	2	1485	2	ESRP1	8	95683890	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08		95683890	50680132	46	43987											
DSCC1	79075	broad.mit.edu	37	chr8	120859281	120859281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggtcattatttcttcctCacttgcctgaatttgatcaa	8	18	6	9	0	4	2	3	2	1	0	5	2	5	2	2	1	1	0	2	1	3	6			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr8:120859281C>T	ENST00000313655.4	-	4	740	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	176					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTCTTCCTCACTTGCCTGA	0.308													21	43					0	0	0	0	T	120859281	C	T	120859281	3	4	244	1	0	0	0	0	1	0	0	0	4806	835	29	2	679	2	DSCC1	8	120859281	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	25175391	120859281	25504741	47	43988											
CDKN2A	1029	broad.mit.edu	37	chr9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacatcgcgatggcccagctCctcagccaggtccacgggca	8	5	12	16	3	1	0	1	0	0	0	4	2	3	0	4	3	2	2	4	3	0	0			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579755.1_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			18	22					3.41278e-10	3.60642e-10	1	0	A	21971000	C	A	21971000	4	1	244	1	0	0	0	0	0	1	0	0	3190	864	30	2	120	2	CDKN2A	9	21971000	Nonsense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08		21971000	119242431	48	43989											
CDKN2A	1029	broad.mit.edu	37	chr9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtccacgggcagacggccCcaggcatcgcgcacgtccag	8	3	14	16	5	0	1	0	0	0	1	3	1	2	1	4	4	0	3	4	4	0	0	rs121913389		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	17					0	0	0	0	T	21971028	C	T	21971028	4	4	244	1	0	0	0	0	0	1	0	0	3190	624	22	4	148	4	CDKN2A	9	21971028	Nonsense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	28	21971028	119242403	49	43990											
POLR1E	64425	broad.mit.edu	37	chr9	37486603	37486603	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgccatccccattctgAcactccctcccagtgacagt	7	11	5	18	0	1	2	0	2	1	0	5	2	5	2	6	0	1	0	6	0	0	2	rs1571234	by1000genomes	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:37486603A>G	ENST00000377792.3	+	1	454	c.166A>G	c.(166-168)Aca>Gca	p.T56A	POLR1E_ENST00000442009.2_Intron|POLR1E_ENST00000377798.4_Intron			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	56				T -> A (in Ref. 1; BAC03629).	rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCCCATTCTGACACTCCCTCC	0.562													3	29					0	0	0	0	G	37486603	A	G	37486603	3	3	244	1	0	0	0	0	1	0	0	0	12285	290	10	5		5	POLR1E	9	37486603	Missense_Mutation	SNP	A	TCGA-CV-6003-01A-11D-1683-08	15515575	37486603	103726828	50	43991											
PCSK5	5125	broad.mit.edu	37	chr9	78855573	78855575	+	In_Frame_Del	DEL	GAA	GAA	-																															atgaagaatgtgtcccttgtGaagaaggatgtctgggatgc																										TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:78855573_78855575delGAA	ENST00000545128.1	+	24	3653_3655	c.3115_3117delGAA	c.(3115-3117)del	p.E1040del		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	742					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGTCCCTTGTGAAGAAGGATGTC	0.429													2	4	---	---	---	---					-	78855575	GAA	-	78855573	7	5	244	1	0	1	0	1	0	0	0	0	11674	1305	45	0		0	PCSK5	9	78855573	In_Frame_Del	DEL	GAA	TCGA-CV-6003-01A-11D-1683-08	41368970	78855573	62357858	51	43992											
SVEP1	79987	broad.mit.edu	37	chr9	113170491	113170491	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcctggcttgcaggtataGagagctgtgctgagataggc	10	9	15	7	0	0	2	0	1	0	2	0	4	0	2	1	3	4	5	1	3	4	4			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:113170491G>C	ENST00000401783.2	-	38	7725	c.7389C>G	c.(7387-7389)ctC>ctG	p.L2463L	SVEP1_ENST00000297826.5_Silent_p.L389L|SVEP1_ENST00000374469.1_Silent_p.L2440L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2463	Sushi 18.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.L2466L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCAGGTATAGAGAGCTGTGC	0.478													9	27					0	0	0	0	C	113170491	G	C	113170491	2	2	244	1	0	0	0	0	0	0	0	1	15510	929	33	2		2	SVEP1	9	113170491	Silent	SNP	G	TCGA-CV-6003-01A-11D-1683-08	34314918	113170491	28042940	52	43993											
KIF12	113220	broad.mit.edu	37	chr9	116859596	116859596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacacccgtttgcaaaagttCcatcagggcctccagactcc	10	8	7	16	1	1	1	1	0	0	1	4	1	4	1	5	1	1	3	5	1	2	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:116859596C>T	ENST00000374118.3	-	4	454	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	206	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TGCAAAAGTTCCATCAGGGCC	0.607													3	30					0	0	0	0	T	116859596	C	T	116859596	3	4	244	1	0	0	0	0	1	0	0	0	8324	864	30	2	1376	2	KIF12	9	116859596	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	3689105	116859596	24353835	53	43994											
OR1N1	138883	broad.mit.edu	37	chr9	125288840	125288840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatagaacacacaaacaaCgcagaggtgggaactgcagg	16	3	11	11	1	0	2	0	0	0	2	0	3	0	3	1	3	5	2	1	3	5	1	rs151154516	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:125288840C>T	ENST00000304880.2	-	1	732	c.733G>A	c.(733-735)Gtt>Att	p.V245I		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACACAAACAACGCAGAGGTGG	0.547													13	55					0	0	0	0	T	125288840	C	T	125288840	3	4	244	1	0	0	0	0	1	0	0	0	11040	536	19	1	206	1	OR1N1	9	125288840	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	8429244	125288840	15924591	54	43995											
MAMDC4	158056	broad.mit.edu	37	chr9	139749038	139749038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctgggcccatggaacCgctcggaaggctggtcccgg	6	5	16	14	3	0	0	0	0	0	0	2	2	1	2	4	7	1	2	4	7	2	0			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:139749038C>T	ENST00000445819.1	+	8	894	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	MAMDC4_ENST00000317446.2_Missense_Mutation_p.R282C|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	282	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCCATGGAACCGCTCGGAAGG	0.687													5	10					0	0	0	0	T	139749038	C	T	139749038	3	4	244	1	0	0	0	0	1	0	0	0	9273	652	23	1	874	1	MAMDC4	9	139749038	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	14460198	139749038	1464393	55	43996											
ZMYND11	10771	broad.mit.edu	37	chr10	293375	293375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaagagcaaagaaaggacGacgtaatcaaagtgtggagc	18	4	12	7	2	1	2	1	0	0	2	1	5	1	4	1	2	2	2	1	2	5	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:293375G>A	ENST00000309776.4	+	12	1624	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000397959.3_Missense_Mutation_p.R314Q|ZMYND11_ENST00000535374.1_Missense_Mutation_p.R194Q|ZMYND11_ENST00000381602.4_Missense_Mutation_p.R359Q|ZMYND11_ENST00000602682.1_Missense_Mutation_p.R314Q|ZMYND11_ENST00000558098.2_Missense_Mutation_p.R399Q|ZMYND11_ENST00000545619.1_Missense_Mutation_p.R279Q|ZMYND11_ENST00000403354.1_Missense_Mutation_p.R319Q|ZMYND11_ENST00000402736.1_Missense_Mutation_p.R368Q|ZMYND11_ENST00000397962.3_Missense_Mutation_p.R399Q|ZMYND11_ENST00000381607.4_Missense_Mutation_p.R305Q|ZMYND11_ENST00000381591.1_Missense_Mutation_p.R399Q|ZMYND11_ENST00000509513.2_Missense_Mutation_p.R398Q|ZMYND11_ENST00000381584.1_Missense_Mutation_p.R382Q|ZMYND11_ENST00000381604.4_Missense_Mutation_p.R359Q	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	359					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R360fs*9(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAGAAAGGACGACGTAATCAA	0.378													12	43					0	0	0	0	A	293375	G	A	293375	3	1	244	1	0	0	0	0	1	0	0	0	17801	1058	37	1	1238	1	ZMYND11	10	293375	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08		293375	135241372	56	43997											
CUBN	8029	broad.mit.edu	37	chr10	17142048	17142048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtaaagcctctcccatttCttaaatgttcagaatagaga	13	13	6	9	0	3	2	1	0	2	2	4	3	3	2	2	0	1	2	2	0	6	5			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:17142048C>T	ENST00000377833.4	-	14	1786	c.1721G>A	c.(1720-1722)aGa>aAa	p.R574K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	574	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTCCCATTTCTTAAATGTTC	0.403													20	104					0	0	0	0	T	17142048	C	T	17142048	3	4	244	1	0	0	0	0	1	0	0	0	4083	913	32	2	9366	2	CUBN	10	17142048	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	16848673	17142048	118392699	57	43998											
ITGB1	3688	broad.mit.edu	37	chr10	33208820	33208820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccagcttacctgcacgCgccacactcaaatgtcccat	11	7	5	18	2	1	0	1	0	0	0	2	0	2	0	4	0	3	2	4	0	2	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:33208820C>T	ENST00000396033.2	-	11	1597	c.1462G>A	c.(1462-1464)Gcg>Acg	p.A488T	ITGB1_ENST00000302278.3_Missense_Mutation_p.A488T|ITGB1_ENST00000423113.1_Missense_Mutation_p.A488T|ITGB1_ENST00000374956.4_Missense_Mutation_p.A488T	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	488	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TACCTGCACGCGCCACACTCA	0.453													10	70					0	0	0	0	T	33208820	C	T	33208820	3	4	244	1	0	0	0	0	1	0	0	0	7943	768	27	1	1196	1	ITGB1	10	33208820	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	16066772	33208820	102325927	58	43999											
PCDH15	65217	broad.mit.edu	37	chr10	55566403	55566403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaaagctcttcatcatcaGactgtgtgtggtcactatga	10	13	8	10	0	5	2	4	1	1	1	6	2	6	2	1	1	1	1	1	1	2	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:55566403G>C	ENST00000373965.2	-	36	5385	c.4991C>G	c.(4990-4992)tCt>tGt	p.S1664C	PCDH15_ENST00000414778.1_Missense_Mutation_p.S1661C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCATCATCAGACTGTGTGTG	0.388										HNSCC(58;0.16)			34	65					0	0	0	0	C	55566403	G	C	55566403	3	2	244	1	0	0	0	0	1	0	0	0	11582	942	33	2	67	2	PCDH15	10	55566403	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	22357583	55566403	79968344	59	44000											
GHITM	27069	broad.mit.edu	37	chr10	85903817	85903817	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttggagcattgtgctactAtggcttgggactgtctaatg	7	15	12	7	0	2	0	0	0	2	0	2	2	2	2	0	3	3	3	0	3	3	6			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:85903817A>G	ENST00000372134.3	+	4	489	c.296A>G	c.(295-297)tAt>tGt	p.Y99C		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	99					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TTGTGCTACTATGGCTTGGGA	0.418													39	67					0	0	0	0	G	85903817	A	G	85903817	3	3	244	1	0	0	0	0	1	0	0	0	6421	449	16	5	306	5	GHITM	10	85903817	Missense_Mutation	SNP	A	TCGA-CV-6003-01A-11D-1683-08	30337414	85903817	49630930	60	44001											
CCNJ	54619	broad.mit.edu	37	chr10	97810064	97810064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcagttaagtctcagaCggtattttgctgacttgatt	8	15	8	10	1	2	3	2	2	1	1	3	3	2	3	2	1	1	3	2	1	2	6			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:97810064C>T	ENST00000265992.5	+	3	488	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R41W|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.R41W|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R41W	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	41	Cyclin N-terminal.					nucleus		p.R41W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AAGTCTCAGACGGTATTTTGC	0.478													24	58					0	0	0	0	T	97810064	C	T	97810064	3	4	244	1	0	0	0	0	1	0	0	0	2957	527	19	1	127	1	CCNJ	10	97810064	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	11906247	97810064	37724683	61	44002											
DRD4	1815	broad.mit.edu	37	chr11	640559	640559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctacactgtcttcaacgccGagttccgcaacgtcttccgc	7	11	7	16	5	4	0	1	0	3	0	6	1	6	0	3	0	3	2	3	0	3	4			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:640559G>A	ENST00000176183.5	+	4	1228	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	454					activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	CTTCAACGCCGAGTTCCGCAA	0.697													24	70					0	0	0	0	A	640559	G	A	640559	3	1	244	1	0	0	0	0	1	0	0	0	4795	1059	37	1	1230	1	DRD4	11	640559	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08		640559	134365957	62	44003											
MRPL17	63875	broad.mit.edu	37	chr11	6704513	6704513	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccatgggagatcgctgcagcGaccgacagccgcatgtttcc	8	7	12	14	4	0	1	0	0	0	1	2	4	1	1	4	1	3	4	4	1	0	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:6704513G>C	ENST00000288937.6	-	1	119	c.15C>G	c.(13-15)gtC>gtG	p.V5V		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	5					translation	ribosome	protein domain specific binding|structural constituent of ribosome			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCGCTGCAGCGACCGACAGCC	0.632											OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	11					0	0	0	0	C	6704513	G	C	6704513	2	2	244	1	0	0	0	0	0	0	0	1	9852	1045	37	3		3	MRPL17	11	6704513	Silent	SNP	G	TCGA-CV-6003-01A-11D-1683-08	6063954	6704513	128302003	63	44004											
MICAL2	9645	broad.mit.edu	37	chr11	12265567	12265567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaggcctgtctcatactCatcctccatctcctccctct	7	13	3	18	0	4	0	2	0	3	0	9	0	7	0	5	1	1	0	5	1	3	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:12265567C>A	ENST00000256194.4	+	21	2980	c.2692C>A	c.(2692-2694)Cat>Aat	p.H898N	MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.H898N|MICAL2_ENST00000527546.1_Intron	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	898						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTCTCATACTCATCCTCCATC	0.473													25	166					3.01185e-09	3.16032e-09	1	0	A	12265567	C	A	12265567	3	1	244	1	0	0	0	0	1	0	0	0	9639	826	29	2	2766	2	MICAL2	11	12265567	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	5561054	12265567	122740949	64	44005											
NAV2	89797	broad.mit.edu	37	chr11	20119263	20119263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggctatctggttggagaGaacacgaccatctcagtgac	10	10	12	9	1	2	2	1	1	2	1	3	5	2	3	1	3	1	2	1	3	2	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:20119263G>A	ENST00000396085.1	+	32	6523	c.6162G>A	c.(6160-6162)gaG>gaA	p.E2054E	NAV2_ENST00000349880.4_Silent_p.E2051E|NAV2_ENST00000311043.8_Silent_p.E1115E|NAV2_ENST00000540292.1_Silent_p.E2041E|NAV2_ENST00000527559.2_Silent_p.E2039E|NAV2_ENST00000396087.3_Silent_p.E2110E|NAV2_ENST00000533917.1_Silent_p.E1115E|NAV2_ENST00000360655.4_Silent_p.E1987E	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2110						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGGTTGGAGAGAACACGACCA	0.478													10	101					0	0	0	0	A	20119263	G	A	20119263	2	1	244	1	0	0	0	0	0	0	0	1	10254	933	33	2		2	NAV2	11	20119263	Silent	SNP	G	TCGA-CV-6003-01A-11D-1683-08	7853696	20119263	114887253	65	44006											
OR5AR1	219493	broad.mit.edu	37	chr11	56432082	56432082	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaaaaagctaattggaaaAaaatctcaataataacacaa	23	9	3	6	0	2	0	2	0	1	0	3	1	2	1	0	1	2	1	0	1	10	5			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:56432082A>G	ENST00000302969.2	+	1	945	c.921A>G	c.(919-921)aaA>aaG	p.K307K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TAATTGGAAAAAAATCTCAAT	0.348													12	25					0	0	0	0	G	56432082	A	G	56432082	2	3	244	1	0	0	0	0	0	0	0	1	11216	11	1	5		5	OR5AR1	11	56432082	Silent	SNP	A	TCGA-CV-6003-01A-11D-1683-08	36312819	56432082	78574434	66	44007											
KCNK4	50801	broad.mit.edu	37	chr11	64065047	64065047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgttcgtgttctgctatatgGaggactggagcaagctggag	8	11	15	7	2	1	0	0	0	1	0	2	4	1	4	0	4	3	5	0	4	3	4			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:64065047G>A	ENST00000539216.1	+	4	943	c.583G>A	c.(583-585)Gag>Aag	p.E195K	KCNK4_ENST00000538767.1_Intron|KCNK4_ENST00000422670.2_Missense_Mutation_p.E195K|KCNK4_ENST00000394525.2_Missense_Mutation_p.E195K|KCNK4_ENST00000539651.1_Intron|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	195						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CTGCTATATGGAGGACTGGAG	0.577													21	144					0	0	0	0	A	64065047	G	A	64065047	3	1	244	1	0	0	0	0	1	0	0	0	8121	1175	41	2	597	2	KCNK4	11	64065047	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	7632965	64065047	70941469	67	44008											
EHD1	10938	broad.mit.edu	37	chr11	64627529	64627529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtcggggatgaggagcGggtgggaccagaaggagccg	8	5	22	6	3	0	2	0	1	0	1	1	6	0	6	2	7	2	1	2	7	1	1	rs137874978		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:64627529G>A	ENST00000320631.3	-	3	1036	c.782C>T	c.(781-783)cCg>cTg	p.P261L	EHD1_ENST00000359393.2_Missense_Mutation_p.P261L	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	261					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GATGAGGAGCGGGTGGGACCA	0.627													8	77					0	0	0	0	A	64627529	G	A	64627529	3	1	244	1	0	0	0	0	1	0	0	0	5013	1116	39	1	834	1	EHD1	11	64627529	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	562482	64627529	70378987	68	44009											
INPPL1	3636	broad.mit.edu	37	chr11	71942214	71942214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggggcctcaaggagcttaCggatctggattaccgcccgg	7	7	15	12	4	2	0	1	0	1	0	2	3	2	3	3	6	3	1	3	6	3	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:71942214C>T	ENST00000298229.2	+	12	1682	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M	INPPL1_ENST00000538751.1_Missense_Mutation_p.T251M|INPPL1_ENST00000541756.1_Missense_Mutation_p.T251M	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	493					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AAGGAGCTTACGGATCTGGAT	0.592													118	126					0	0	0	0	T	71942214	C	T	71942214	3	4	244	1	0	0	0	0	1	0	0	0	7814	536	19	1	1524	1	INPPL1	11	71942214	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	7314685	71942214	63064302	69	44010											
GDPD5	81544	broad.mit.edu	37	chr11	75152211	75152211	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgccccccaactcaccatGatccagaggggggaaggcac	10	5	11	15	0	2	2	1	1	1	1	3	3	3	3	5	4	2	1	5	4	2	0			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:75152211G>A	ENST00000526177.1	-	10	2934	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	GDPD5_ENST00000533784.1_Silent_p.I371I|GDPD5_ENST00000533805.1_Silent_p.I245I|GDPD5_ENST00000376282.3_Silent_p.I371I|GDPD5_ENST00000336898.3_Silent_p.I490I|GDPD5_ENST00000529721.1_Silent_p.I490I|GDPD5_ENST00000443276.2_3'UTR			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	490	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AACTCACCATGATCCAGAGGG	0.662													11	36					0	0	0	0	A	75152211	G	A	75152211	2	1	244	1	0	0	0	0	0	0	0	1	6378	1280	45	2		2	GDPD5	11	75152211	Silent	SNP	G	TCGA-CV-6003-01A-11D-1683-08	3209997	75152211	59854305	70	44011											
KDM5A	5927	broad.mit.edu	37	chr12	406330	406330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcatcacaaaaaagattggGttcaagactactagaggact	16	10	8	7	0	3	3	3	0	0	3	3	4	3	4	0	2	1	1	0	2	6	5			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:406330G>A	ENST00000399788.2	-	25	4473	c.4111C>T	c.(4111-4113)Ccc>Tcc	p.P1371S	KDM5A_ENST00000382815.4_Missense_Mutation_p.P1371S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1371					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AAAAGATTGGGTTCAAGACTA	0.413			T	NUP98	AML								24	25					0	0	0	0	A	406330	G	A	406330	3	1	244	1	0	0	0	0	1	0	0	0	8185	1261	44	4	977	4	KDM5A	12	406330	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08		406330	133445565	71	44012											
ATN1	1822	broad.mit.edu	37	chr12	7045880	7045885	+	In_Frame_Del	DEL	CAGCAA	CAGCAA	-																															caacacatcaccatcaccacCagcaacagcaacagcagcag																										TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:7045880_7045885delCAGCAA	ENST00000356654.4	+	5	1687_1692	c.1450_1455delCAGCAA	c.(1450-1455)del	p.QQ500del	ATN1_ENST00000396684.2_In_Frame_Del_p.QQ500del	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	500	Poly-Gln.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCATCACCACcagcaacagcaacagc	0.626													30	316	---	---	---	---					-	7045885	CAGCAA	-	7045880	7	5	244	1	0	1	0	1	0	0	0	0	1115	595	21	0	1464	0	ATN1	12	7045880	In_Frame_Del	DEL	CAGCAA	TCGA-CV-6003-01A-11D-1683-08	6639550	7045880	126806015	72	44013											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	RNA	INS	-	-	C																															acaagatcggaggccgtagtINSttattgtggtgctggaaggg																								rs36063533		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	25	---	---	---	---					C	7080213	-	C	7080212	6	5	244	0	1	1	1	0	0	0	0	0	5128	1722	60	0		0	EMG1	12	7080212	RNA	INS	-	TCGA-CV-6003-01A-11D-1683-08	34332	7080212	126771683	73	44014											
ZNF641	121274	broad.mit.edu	37	chr12	48737262	48737262	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccccatacaaactgttTcccacactgggggcatgtgt	10	9	10	12	0	0	0	0	0	0	0	1	1	1	1	3	3	3	2	3	3	3	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:48737262T>C	ENST00000544117.2	-	6	1519	c.811A>G	c.(811-813)Aaa>Gaa	p.K271E	ZNF641_ENST00000547026.1_Missense_Mutation_p.K257E|ZNF641_ENST00000301042.3_Missense_Mutation_p.K271E|ZNF641_ENST00000448928.3_Missense_Mutation_p.K248E			Q96N77	ZN641_HUMAN	zinc finger protein 641	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						ACAAACTGTTTCCCACACTGG	0.532													15	58					0	0	0	0	C	48737262	T	C	48737262	3	2	244	1	0	0	0	0	1	0	0	0	18152	1792	62	5	509	5	ZNF641	12	48737262	Missense_Mutation	SNP	T	TCGA-CV-6003-01A-11D-1683-08	41657050	48737262	85114633	74	44015											
KRT7	3855	broad.mit.edu	37	chr12	52627278	52627278	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgccggcatccgcgaggtCaccattaaccagagcctgct	8	6	12	15	4	1	1	1	0	0	1	2	2	2	1	5	3	3	2	5	3	1	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:52627278C>T	ENST00000331817.5	+	1	381	c.198C>T	c.(196-198)gtC>gtT	p.V66V		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	66	Head.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		TCCGCGAGGTCACCATTAACC	0.721													24	14					0	0	0	0	T	52627278	C	T	52627278	2	4	244	1	0	0	0	0	0	0	0	1	8535	813	29	2		2	KRT7	12	52627278	Silent	SNP	C	TCGA-CV-6003-01A-11D-1683-08	3890016	52627278	81224617	75	44016											
RPH3A	22895	broad.mit.edu	37	chr12	113332462	113332462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgaatcccgaattcaatGaggtaaggctgccctattct	10	12	8	11	1	2	2	1	2	1	0	3	3	3	2	3	2	1	2	3	2	5	5			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:113332462G>A	ENST00000389385.4	+	20	2352	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	RPH3A_ENST00000447659.2_Missense_Mutation_p.E570K|RPH3A_ENST00000415485.3_Missense_Mutation_p.E619K|RPH3A_ENST00000551052.1_Missense_Mutation_p.E615K|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.E619K|RPH3A_ENST00000420983.2_Missense_Mutation_p.E619K|RPH3A_ENST00000548866.1_Missense_Mutation_p.E570K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	619	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CGAATTCAATGAGGTAAGGCT	0.448													6	23					0	0	0	0	A	113332462	G	A	113332462	3	1	244	1	0	0	0	0	1	0	0	0	13636	1291	45	2	1925	2	RPH3A	12	113332462	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	60705184	113332462	20519433	76	44017											
ATP12A	479	broad.mit.edu	37	chr13	25265103	25265103	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacccctggaataaagcAtctacttcccctgtaggcac	11	8	9	13	0	1	0	0	0	1	0	2	3	2	2	4	3	2	3	4	3	5	4	rs7981616	by1000genomes	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr13:25265103A>G	ENST00000218548.6	+	8	1134	c.799_splice	c.e8-1	p.A267_splice	ATP12A_ENST00000381946.3_Intron	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	266					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGAATAAAGCATCTACTTCCC	0.572													6	147					0	0	0	0	G	25265103	A	G	25265103	5	3	244	1	0	0	0	0	0	0	1	0	1126	231	8	5	831	5	ATP12A	13	25265103	Splice_Site	SNP	A	TCGA-CV-6003-01A-11D-1683-08		25265103	89904775	77	44018											
MCF2L	23263	broad.mit.edu	37	chr13	113728844	113728844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcatgtggagcacctgctGagggacctggccagcttcga	7	7	15	12	2	0	1	0	1	0	0	1	4	0	3	3	3	3	4	3	3	0	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr13:113728844G>A	ENST00000397030.1	+	10	1219	c.1182G>A	c.(1180-1182)ctG>ctA	p.L394L	MCF2L_ENST00000421756.1_Silent_p.L365L|MCF2L_ENST00000434480.2_Silent_p.L367L|MCF2L_ENST00000375601.3_Silent_p.L365L|MCF2L_ENST00000442652.2_Silent_p.L391L|MCF2L_ENST00000375604.2_Silent_p.L418L|MCF2L_ENST00000375597.4_Silent_p.L359L|MCF2L_ENST00000375608.3_Silent_p.L391L|MCF2L_ENST00000423482.2_Silent_p.L359L|MCF2L_ENST00000535094.2_Silent_p.L361L			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	391					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCACCTGCTGAGGGACCTGG	0.617													8	60					0	0	0	0	A	113728844	G	A	113728844	2	1	244	1	0	0	0	0	0	0	0	1	9448	1277	45	2		2	MCF2L	13	113728844	Silent	SNP	G	TCGA-CV-6003-01A-11D-1683-08	88463741	113728844	1441034	78	44019											
TMEM30B	161291	broad.mit.edu	37	chr14	61747707	61747708	+	In_Frame_Ins	INS	-	-	AGGCCC																															tgccgttggaggagtagtagINSaggcccaggcccaggccgat																								rs11538992		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:61747707_61747708insAGGCCC	ENST00000555868.1	-	1	850_851	c.158_159insGGGCCT	c.(157-159)cta>cGGGCCTta	p.52_53insRA	TMEM30B_ENST00000355702.2_In_Frame_Ins_p.52_53insRA|TMEM30B_ENST00000557163.1_Intron	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	52						integral to membrane				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		AGGAGTAGTAGAGGCCCAGGCC	0.703													2	4	---	---	---	---					AGGCCC	61747708	-	AGGCCC	61747707	7	5	244	1	0	1	1	0	0	0	0	0	16248	929	33	0	900	0	TMEM30B	14	61747707	In_Frame_Ins	INS	-	TCGA-CV-6003-01A-11D-1683-08		61747707	45601833	79	44020											
PCNX	22990	broad.mit.edu	37	chr14	71517433	71517433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccccatggcagatcacatGgggttctgctttccatgctt	6	13	10	12	0	2	1	1	0	1	1	3	1	3	1	3	3	3	4	3	3	0	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:71517433G>T	ENST00000304743.2	+	23	4849	c.4403G>T	c.(4402-4404)tGg>tTg	p.W1468L	PCNX_ENST00000439984.3_Missense_Mutation_p.W1357L|PCNX_ENST00000238570.5_Missense_Mutation_p.W1468L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1468						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGATCACATGGGGTTCTGCT	0.388													105	30					2.5327e-61	2.85888e-61	1	0	T	71517433	G	T	71517433	3	4	244	1	0	0	0	0	1	0	0	0	11662	1357	47	4	4493	4	PCNX	14	71517433	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	9769726	71517433	35832107	80	44021											
DICER1	23405	broad.mit.edu	37	chr14	95570037	95570037	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggagagtacattcatcGctgggctggggctggttctc	6	11	14	10	1	3	1	2	0	1	1	5	2	3	1	0	5	1	5	0	5	1	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:95570037G>A	ENST00000526495.1	-	23	3987	c.3696C>T	c.(3694-3696)agC>agT	p.S1232S	DICER1_ENST00000541352.1_Silent_p.S1232S|DICER1_ENST00000393063.1_Silent_p.S1232S|DICER1_ENST00000527414.1_Silent_p.S1232S|DICER1_ENST00000556045.1_Silent_p.S130S|DICER1_ENST00000343455.3_Silent_p.S1232S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1232					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TACATTCATCGCTGGGCTGGG	0.433			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				52	108					0	0	0	0	A	95570037	G	A	95570037	2	1	244	1	0	0	0	0	0	0	0	1	4558	1078	38	1		1	DICER1	14	95570037	Silent	SNP	G	TCGA-CV-6003-01A-11D-1683-08	24052604	95570037	11779503	81	44022											
IMP3	55272	broad.mit.edu	37	chr15	75932053	75932054	+	Frame_Shift_Ins	INS	-	-	GC																															gtgacaaagtcctccatgctINSgcgcgtgacaaggaaggcgg																										TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr15:75932053_75932054insGC	ENST00000314852.2	-	2	1399_1400	c.456_457insGC	c.(454-459)cggcatfs	p.H153fs	IMP3_ENST00000403490.1_Frame_Shift_Ins_p.H153fs			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	153	S4 RNA-binding.				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						TCCTCCATGCTGCGCGTGACAA	0.609													31	70	---	---	---	---					GC	75932054	-	GC	75932053	7	5	244	1	0	1	1	0	0	0	0	0	7772	1580	55	0	101	0	IMP3	15	75932053	Frame_Shift_Ins	INS	-	TCGA-CV-6003-01A-11D-1683-08		75932053	26599339	82	44023											
IGF1R	3480	broad.mit.edu	37	chr15	99250815	99250815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggccaggcatcgacatccGcaacgactatcagcagctga	11	5	11	14	4	1	1	1	1	0	0	3	3	2	1	2	2	3	4	2	2	2	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr15:99250815G>T	ENST00000268035.6	+	2	730	c.119G>T	c.(118-120)cGc>cTc	p.R40L	IGF1R_ENST00000558762.1_Missense_Mutation_p.R40L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	40					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ATCGACATCCGCAACGACTAT	0.502													10	31					1.58986e-06	1.63372e-06	1	0	T	99250815	G	T	99250815	3	4	244	1	0	0	0	0	1	0	0	0	7624	1087	38	3	125	3	IGF1R	15	99250815	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	23318762	99250815	3280577	83	44024											
RNPS1	10921	broad.mit.edu	37	chr16	2314602	2314602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactttttattattttcttTgactcctagcaagctcttct	7	20	5	9	0	3	1	0	1	3	0	4	2	4	2	1	1	2	2	1	1	4	9			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:2314602T>C	ENST00000565678.1	-	2	588	c.43A>G	c.(43-45)Aaa>Gaa	p.K15E	RNPS1_ENST00000301730.8_Missense_Mutation_p.K15E|RNPS1_ENST00000320225.5_Missense_Mutation_p.K15E|RNPS1_ENST00000567147.1_Intron|RNPS1_ENST00000397086.2_Missense_Mutation_p.K15E|RNPS1_ENST00000566458.1_Intron|RNPS1_ENST00000568631.1_Missense_Mutation_p.K15E|RNPS1_ENST00000569598.2_Missense_Mutation_p.K15E|RNPS1_ENST00000561718.1_Intron			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	15	Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TTATTTTCTTTGACTCCTAGC	0.443													32	41					0	0	0	0	C	2314602	T	C	2314602	3	2	244	1	0	0	0	0	1	0	0	0	13596	1821	63	5	902	5	RNPS1	16	2314602	Missense_Mutation	SNP	T	TCGA-CV-6003-01A-11D-1683-08		2314602	88040151	84	44025											
ZNF646	9726	broad.mit.edu	37	chr16	31091299	31091299	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaagcacgccggcagcctCatcaaccaccggcagagcca	12	3	9	17	3	2	1	2	0	0	1	2	1	2	1	5	2	5	3	5	2	3	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:31091299C>T	ENST00000394979.2	+	1	4077	c.3654C>T	c.(3652-3654)ctC>ctT	p.L1218L	ZNF646_ENST00000300850.5_Silent_p.L1218L			O15015	ZN646_HUMAN	zinc finger protein 646	1218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCGGCAGCCTCATCAACCACC	0.637													12	23					0	0	0	0	T	31091299	C	T	31091299	2	4	244	1	0	0	0	0	0	0	0	1	18157	813	29	2		2	ZNF646	16	31091299	Silent	SNP	C	TCGA-CV-6003-01A-11D-1683-08	28776697	31091299	59263454	85	44026											
SALL1	6299	broad.mit.edu	37	chr16	51174003	51174003	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctgagaacccggtggcaGatgatgcactcattggggtc	9	8	14	10	1	1	3	1	2	0	2	2	4	1	3	1	4	3	3	1	4	1	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:51174003G>A	ENST00000440970.1	-	2	2270	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.I710I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	710					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCCGGTGGCAGATGATGCACT	0.542													37	61					0	0	0	0	A	51174003	G	A	51174003	2	1	244	1	0	0	0	0	0	0	0	1	13895	932	33	2		2	SALL1	16	51174003	Silent	SNP	G	TCGA-CV-6003-01A-11D-1683-08	20082704	51174003	39180750	86	44027											
GPR97	222487	broad.mit.edu	37	chr16	57719693	57719693	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctgtcccgtgctacagcGgtcaaggagcgggggaagaa	10	5	15	11	3	1	1	1	0	0	1	2	3	2	3	2	4	4	1	2	4	4	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:57719693G>A	ENST00000333493.4	+	11	1556	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.A345A|GPR97_ENST00000327655.6_Silent_p.A255A	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	465				A -> V (in Ref. 4; AAH64508).	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A465A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTGCTACAGCGGTCAAGGAGC	0.607													14	46					0	0	0	0	A	57719693	G	A	57719693	2	1	244	1	0	0	0	0	0	0	0	1	6770	1103	39	1		1	GPR97	16	57719693	Silent	SNP	G	TCGA-CV-6003-01A-11D-1683-08	6545690	57719693	32635060	87	44028											
PLA2G15	23659	broad.mit.edu	37	chr16	68289698	68289698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctacttcctggccctcCgcgagatgatcgaggagatg	7	8	13	13	3	0	3	0	1	0	2	3	6	2	3	4	3	1	0	4	3	1	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:68289698C>T	ENST00000219345.5	+	5	615	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Intron|PLA2G15_ENST00000566188.1_Intron	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	178					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCTGGCCCTCCGCGAGATGAT	0.607													26	33					0	0	0	0	T	68289698	C	T	68289698	3	4	244	1	0	0	0	0	1	0	0	0	12064	652	23	1	550	1	PLA2G15	16	68289698	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	10570005	68289698	22065055	88	44029											
KCNG4	93107	broad.mit.edu	37	chr16	84255948	84255948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggctggaccggtgttttGgaggtggcggaggcgggcct	4	9	20	8	3	0	0	0	0	0	0	0	3	0	3	2	9	0	2	2	9	0	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:84255948G>T	ENST00000308251.4	-	3	1503	c.1435C>A	c.(1435-1437)Caa>Aaa	p.Q479K		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	479						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCGGTGTTTTGGAGGTGGCGG	0.587													50	118					4.1673e-28	4.63379e-28	1	0	T	84255948	G	T	84255948	3	4	244	1	0	0	0	0	1	0	0	0	8083	1357	47	4	126	4	KCNG4	16	84255948	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	15966250	84255948	6098805	89	44030											
TP53	7157	broad.mit.edu	37	chr17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggcctcattcagctctcGgaacatctcgaagcgctcac	10	8	8	15	3	5	0	3	0	2	0	7	2	5	1	1	2	3	2	1	2	3	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAGCTCTCGGAACATCTCG	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	11					0	0	0	0	A	7574003	G	A	7574003	4	1	244	1	0	0	0	0	0	1	0	0	16476	1124	39	1	165	1	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08		7574003	73621207	90	44031											
AP2B1	163	broad.mit.edu	37	chr17	34001260	34001260	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatttactcaccgccaaggGcacatctatatggaaatgaa	15	9	7	10	1	2	1	1	1	1	0	2	2	2	2	2	2	1	1	2	2	6	4			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:34001260G>A	ENST00000262325.7	+	16	2755	c.2202G>A	c.(2200-2202)ggG>ggA	p.G734G	AP2B1_ENST00000538556.1_Silent_p.G677G|AP2B1_ENST00000592545.1_Silent_p.G710G|AP2B1_ENST00000589344.1_Silent_p.G748G|AP2B1_ENST00000312678.8_Silent_p.G748G|AP2B1_ENST00000537622.2_Silent_p.G748G|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	734					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACCGCCAAGGGCACATCTATA	0.418													43	95					0	0	0	0	A	34001260	G	A	34001260	2	1	244	1	0	0	0	0	0	0	0	1	742	1190	42	4		4	AP2B1	17	34001260	Silent	SNP	G	TCGA-CV-6003-01A-11D-1683-08	26427257	34001260	47193950	91	44032											
CASC3	22794	broad.mit.edu	37	chr17	38320341	38320341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacaagtggacttgagcaaGatgtggcacaactaaatata	16	9	10	6	0	0	2	0	1	0	1	0	3	0	3	0	2	3	3	0	2	8	5			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:38320341G>A	ENST00000264645.7	+	7	1619	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	465	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						ACTTGAGCAAGATGTGGCACA	0.517													13	58					0	0	0	0	A	38320341	G	A	38320341	3	1	244	1	0	0	0	0	1	0	0	0	2686	942	33	2	1419	2	CASC3	17	38320341	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	4319081	38320341	42874869	92	44033											
ITGA3	3675	broad.mit.edu	37	chr17	48145460	48145460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggtgctgtggtcagggtCagaagaccagcggcgcatgg	8	6	17	10	2	2	2	2	0	0	2	2	2	2	2	2	5	2	2	2	5	1	0			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:48145460C>T	ENST00000320031.8	+	4	785	c.455C>T	c.(454-456)tCa>tTa	p.S152L	ITGA3_ENST00000007722.7_Missense_Mutation_p.S152L|ITGA3_ENST00000544892.1_Intron	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	152					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGGTCAGGGTCAGAAGACCAG	0.617													15	76					0	0	0	0	T	48145460	C	T	48145460	3	4	244	1	0	0	0	0	1	0	0	0	7930	838	29	2	469	2	ITGA3	17	48145460	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	9825119	48145460	33049750	93	44034											
RNMT	8731	broad.mit.edu	37	chr18	13741657	13741657	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttagccctgggggctattTtattggtactactcccaata	9	14	8	10	0	0	0	0	0	0	0	1	0	1	0	2	3	3	2	2	3	7	8			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:13741657T>C	ENST00000383314.2	+	7	1181	c.941T>C	c.(940-942)tTt>tCt	p.F314S	RNMT_ENST00000589866.1_Missense_Mutation_p.F314S|RNMT_ENST00000592764.1_Missense_Mutation_p.F314S|RNMT_ENST00000543302.2_Missense_Mutation_p.F314S|RNMT_ENST00000535051.1_Missense_Mutation_p.F72S|RNMT_ENST00000262173.3_Missense_Mutation_p.F314S			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	314					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GGGGGCTATTTTATTGGTACT	0.363													22	75					0	0	0	0	C	13741657	T	C	13741657	3	2	244	1	0	0	0	0	1	0	0	0	13591	1841	64	5	959	5	RNMT	18	13741657	Missense_Mutation	SNP	T	TCGA-CV-6003-01A-11D-1683-08		13741657	64335591	94	44035											
CDH7	1005	broad.mit.edu	37	chr18	63511084	63511084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaacaagttacacgctaCggatagaagctgcaaataaa	19	6	7	9	2	0	1	0	0	0	1	0	2	0	2	1	1	5	4	1	1	10	4			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:63511084C>T	ENST00000536984.2	+	7	1712	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	CDH7_ENST00000397968.2_Missense_Mutation_p.R340W|CDH7_ENST00000323011.3_Missense_Mutation_p.R340W			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	340	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTACACGCTACGGATAGAAGC	0.423													16	47					0	0	0	0	T	63511084	C	T	63511084	3	4	244	1	0	0	0	0	1	0	0	0	3144	527	19	1	1040	1	CDH7	18	63511084	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	49769427	63511084	14566164	95	44036											
CDH7	1005	broad.mit.edu	37	chr18	63547695	63547695	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagccccttatttttgaCgaagaaagagacatcagaga	17	8	9	7	1	1	5	1	1	0	4	1	8	1	5	2	0	1	0	2	0	4	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:63547695C>T	ENST00000397968.2	+	12	2349	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	CDH7_ENST00000323011.3_Silent_p.D641D	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	641					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTATTTTTGACGAAGAAAGAG	0.443													9	28					0	0	0	0	T	63547695	C	T	63547695	2	4	244	1	0	0	0	0	0	0	0	1	3144	535	19	1		1	CDH7	18	63547695	Silent	SNP	C	TCGA-CV-6003-01A-11D-1683-08	36611	63547695	14529553	96	44037											
PARD6G	84552	broad.mit.edu	37	chr18	77960806	77960806	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagagaaccttcggaattCcgccccaaactacaatgcaa	15	6	7	13	2	0	2	0	0	0	2	2	4	1	3	4	1	4	1	4	1	6	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:77960806C>A	ENST00000353265.3	-	2	279	c.82G>T	c.(82-84)Gaa>Taa	p.E28*	AC139100.3_ENST00000588950.1_RNA|PARD6G_ENST00000470488.2_Nonsense_Mutation_p.E28*	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	28	OPR.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CTTCGGAATTCCGCCCCAAAC	0.458													3	20					0.004672	0.004672	1	0	A	77960806	C	A	77960806	4	1	244	1	0	0	0	0	0	1	0	0	11518	864	30	2	1056	2	PARD6G	18	77960806	Nonsense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	14413111	77960806	116442	97	44038											
CLPTM1	1209	broad.mit.edu	37	chr19	45496031	45496031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacacctgcacccaccaCgaccaccgccaccagggagg	10	1	9	21	2	0	0	0	0	0	0	0	2	0	1	8	2	1	1	8	2	0	0	rs148362509	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:45496031C>T	ENST00000541297.2	+	14	2309	c.1844C>T	c.(1843-1845)aCg>aTg	p.T615M	CLPTM1_ENST00000546079.1_Missense_Mutation_p.T527M|CLPTM1_ENST00000337392.5_Missense_Mutation_p.T629M			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	629					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)		GCACCCACCACGACCACCGCC	0.697													7	49					0	0	0	0	T	45496031	C	T	45496031	3	4	244	1	0	0	0	0	1	0	0	0	3584	536	19	1	1940	1	CLPTM1	19	45496031	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08		45496031	13632952	98	44039											
ZNF347	84671	broad.mit.edu	37	chr19	53644779	53644779	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaacaccaaaggctttgccGcactcattacacttgtaagg	12	9	8	12	2	1	0	1	0	0	0	1	1	1	0	2	2	3	3	2	2	4	4	rs77716783	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:53644779G>A	ENST00000452676.2	-	5	1731	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.C434C|ZNF347_ENST00000601469.2_Silent_p.C435C	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGGCTTTGCCGCACTCATTAC	0.423													48	87					0	0	0	0	A	53644779	G	A	53644779	2	1	244	1	0	0	0	0	0	0	0	1	17956	1079	38	1		1	ZNF347	19	53644779	Silent	SNP	G	TCGA-CV-6003-01A-11D-1683-08	8148748	53644779	5484204	99	44040											
LILRB5	10990	broad.mit.edu	37	chr19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtggtgggggtggggAggcctgggggcctggagagg	5	5	26	5	1	0	1	0	0	0	1	0	4	0	3	2	11	1	0	2	11	1	0			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607													4	22					0	0	0	0	G	54754843	A	G	54754843	3	3	244	1	0	0	0	0	1	0	0	0	8848	319	11	5		5	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-CV-6003-01A-11D-1683-08	1110064	54754843	4374140	100	44041											
PYGB	5834	broad.mit.edu	37	chr20	25262744	25262744	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaccccccgccggtggctGctgctgtgcaacccggggct	4	7	13	17	3	1	0	1	0	0	0	1	0	1	0	5	4	4	5	5	4	1	0			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:25262744G>T	ENST00000216962.4	+	12	1589	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	493					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GCCGGTGGCTGCTGCTGTGCA	0.592													25	30					7.07758e-08	7.32333e-08	1	0	T	25262744	G	T	25262744	2	4	244	1	0	0	0	0	0	0	0	1	12942	1306	46	4		4	PYGB	20	25262744	Silent	SNP	G	TCGA-CV-6003-01A-11D-1683-08		25262744	37762776	101	44042											
TP53INP2	58476	broad.mit.edu	37	chr20	33296573	33296573	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcctctccagcctcttcttCagcaccccctcgccccccga	4	8	5	24	3	4	0	1	0	3	0	6	1	4	0	8	0	2	1	8	0	0	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:33296573C>T	ENST00000374810.3	+	3	419	c.30C>T	c.(28-30)ttC>ttT	p.F10F	NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Silent_p.F10F	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	10						nucleus				endometrium(1)|urinary_tract(1)	2						GCCTCTTCTTCAGCACCCCCT	0.657													4	36					0	0	0	0	T	33296573	C	T	33296573	2	4	244	1	0	0	0	0	0	0	0	1	16484	825	29	2		2	TP53INP2	20	33296573	Silent	SNP	C	TCGA-CV-6003-01A-11D-1683-08	8033829	33296573	29728947	102	44043											
ZNFX1	57169	broad.mit.edu	37	chr20	47864939	47864939	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacaaactagcagcttaGtacaaggcacatagcatggg	14	6	11	10	0	0	0	0	0	0	0	0	0	0	0	1	3	5	5	1	3	6	4			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:47864939G>C	ENST00000396105.1	-	14	4868	c.4622C>G	c.(4621-4623)aCt>aGt	p.T1541S	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.T1541S	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1541							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAGCAGCTTAGTACAAGGCAC	0.572													61	83					0	0	0	0	C	47864939	G	C	47864939	3	2	244	1	0	0	0	0	1	0	0	0	18298	1029	36	4	1138	4	ZNFX1	20	47864939	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	14568366	47864939	15160581	103	44044											
NEFH	4744	broad.mit.edu	37	chr22	29886350	29886350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaaagtccccaccccagaGaaggaggctcctgccaaggt	14	4	10	13	0	0	1	0	0	0	1	2	3	2	2	6	3	1	1	6	3	5	0			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr22:29886350G>A	ENST00000310624.6	+	4	2754	c.2721G>A	c.(2719-2721)gaG>gaA	p.E907E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	913	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCACCCCAGAGAAGGAGGCTC	0.498													4	21					0	0	0	0	A	29886350	G	A	29886350	2	1	244	1	0	0	0	0	0	0	0	1	10384	933	33	2		2	NEFH	22	29886350	Silent	SNP	G	TCGA-CV-6003-01A-11D-1683-08		29886350	21418216	104	44045											
GRAMD4	23151	broad.mit.edu	37	chr22	47059754	47059754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttaactgaaaatatgagaCggctcagtgagtaccagcgg	13	8	13	7	2	1	3	1	3	0	1	1	4	1	3	1	3	3	3	1	3	5	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr22:47059754C>T	ENST00000406902.1	+	7	832	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	GRAMD4_ENST00000361034.3_Missense_Mutation_p.R207W			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	207					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AAATATGAGACGGCTCAGTGA	0.617													18	32					0	0	0	0	T	47059754	C	T	47059754	3	4	244	1	0	0	0	0	1	0	0	0	6802	527	19	1	641	1	GRAMD4	22	47059754	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	17173404	47059754	4244812	105	44046											
NLGN4X	57502	broad.mit.edu	37	chrX	5821173	5821173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacggcgctgagcatgacgtCgttcttggaaaagttacaac	11	9	11	10	4	1	2	0	2	1	0	2	3	1	3	0	2	3	4	0	2	4	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:5821173C>T	ENST00000381095.3	-	5	2173	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N	NLGN4X_ENST00000381093.2_Missense_Mutation_p.D536N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D516N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D516N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D516N	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	516					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGCATGACGTCGTTCTTGGAA	0.537													37	101					0	0	0	0	T	5821173	C	T	5821173	3	4	244	1	0	0	0	0	1	0	0	0	10534	884	31	1	912	1	NLGN4X	23	5821173	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08		5821173	149449387	106	44047											
CASK	8573	broad.mit.edu	37	chrX	41401990	41401990	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttgtactgcttctttttCttgccaaaccaagtacagct	8	17	5	11	0	3	0	0	0	3	0	3	0	3	0	2	0	6	4	2	0	4	7			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:41401990C>G	ENST00000318588.9	-	22	2154	c.2109G>C	c.(2107-2109)aaG>aaC	p.K703N	CASK_ENST00000378158.1_Missense_Mutation_p.K691N|CASK_ENST00000421587.2_Missense_Mutation_p.K674N|CASK_ENST00000378163.1_Missense_Mutation_p.K703N|CASK_ENST00000378166.4_Missense_Mutation_p.K703N|CASK_ENST00000442742.2_Missense_Mutation_p.K680N|CASK_ENST00000361962.4_Missense_Mutation_p.K691N			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	703					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GCTTCTTTTTCTTGCCAAACC	0.418													8	71					0	0	0	0	G	41401990	C	G	41401990	3	3	244	1	0	0	0	0	1	0	0	0	2690	912	32	2	695	2	CASK	23	41401990	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	35580817	41401990	113868570	107	44048											
USP11	8237	broad.mit.edu	37	chrX	47101692	47101692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatccccatggatccgcgccGcaagccagagcaggtgtggg	8	6	14	13	3	0	1	0	0	0	1	2	2	2	2	5	3	2	2	5	3	2	1			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:47101692G>A	ENST00000377107.2	+	10	1745	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	USP11_ENST00000218348.3_Missense_Mutation_p.R507H			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	507					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GATCCGCGCCGCAAGCCAGAG	0.542													13	39					0	0	0	0	A	47101692	G	A	47101692	3	1	244	1	0	0	0	0	1	0	0	0	17138	1087	38	1	1558	1	USP11	23	47101692	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	5699702	47101692	108168868	108	44049											
ZNF81	347344	broad.mit.edu	37	chrX	47774432	47774432	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattcattatactctattttAgaagaattgtggcaagatgc	13	15	8	5	0	2	3	1	0	1	3	2	4	2	3	0	1	2	1	0	1	7	7			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:47774432A>T	ENST00000376954.1	+	6	755	c.387A>T	c.(385-387)ttA>ttT	p.L129F	ZNF81_ENST00000338637.7_Missense_Mutation_p.L129F			P51508	ZNF81_HUMAN	zinc finger protein 81	129						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCTATTTTAGAAGAATTGT	0.353													24	31					0	0	0	0	T	47774432	A	T	47774432	3	4	244	1	0	0	0	0	1	0	0	0	18267	417	15	5	401	5	ZNF81	23	47774432	Missense_Mutation	SNP	A	TCGA-CV-6003-01A-11D-1683-08	672740	47774432	107496128	109	44050											
FGD1	2245	broad.mit.edu	37	chrX	54476096	54476096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcggggactcttactggaGagttgggtggggtgtcttca	5	11	19	6	1	3	1	1	0	2	1	3	3	3	2	0	7	1	1	0	7	1	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:54476096G>A	ENST00000375135.3	-	14	2877	c.2144C>T	c.(2143-2145)tCt>tTt	p.S715F		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	715					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTTACTGGAGAGTTGGGTGG	0.532													13	120					0	0	0	0	A	54476096	G	A	54476096	3	1	244	1	0	0	0	0	1	0	0	0	5877	942	33	2	761	2	FGD1	23	54476096	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	6701664	54476096	100794464	110	44051											
ZCCHC13	389874	broad.mit.edu	37	chrX	73524500	73524500	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtcaagtgttaccgatgCggcgagattggccacgtggc	8	8	15	10	4	1	1	1	0	0	1	1	3	1	1	2	4	2	1	2	4	2	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:73524500C>A	ENST00000339534.2	+	1	476	c.399C>A	c.(397-399)tgC>tgA	p.C133*		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	133							nucleic acid binding|zinc ion binding	p.C133C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GTTACCGATGCGGCGAGATTG	0.552													27	67					2.48779e-11	2.66677e-11	1	0	A	73524500	C	A	73524500	4	1	244	1	0	0	0	0	0	1	0	0	17677	776	27	3	401	3	ZCCHC13	23	73524500	Nonsense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	19048404	73524500	81746060	111	44052											
ATP7A	538	broad.mit.edu	37	chrX	77267139	77267139	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggattgtctgttatgaatTtgctgtcctttttattgtgt	6	21	9	5	0	1	1	0	1	1	0	2	2	2	2	1	1	1	2	1	1	3	7			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:77267139T>G	ENST00000341514.6	+	9	2295	c.2140T>G	c.(2140-2142)Ttg>Gtg	p.L714V	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.L714V	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	714					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TGTTATGAATTTGCTGTCCTT	0.338													86	215					0	0	0	0	G	77267139	T	G	77267139	3	3	244	1	0	0	0	0	1	0	0	0	1194	1838	64	5	2170	5	ATP7A	23	77267139	Missense_Mutation	SNP	T	TCGA-CV-6003-01A-11D-1683-08	3742639	77267139	78003421	112	44053											
TBX22	50945	broad.mit.edu	37	chrX	79281158	79281158	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatacagaccatttgtgcaTcattcctagattctatgttc	11	15	6	9	0	2	2	1	0	1	2	4	3	3	2	2	0	2	2	2	0	4	7			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:79281158T>A	ENST00000442340.1	+	5	645	c.155T>A	c.(154-156)aTc>aAc	p.I52N	TBX22_ENST00000373294.5_Missense_Mutation_p.I172N|TBX22_ENST00000373296.3_Missense_Mutation_p.I172N|TBX22_ENST00000373291.1_Missense_Mutation_p.I52N	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	172					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATTTGTGCATCATTCCTAGA	0.498													11	75					0	0	0	0	A	79281158	T	A	79281158	3	1	244	1	0	0	0	0	1	0	0	0	15752	1435	50	5	529	5	TBX22	23	79281158	Missense_Mutation	SNP	T	TCGA-CV-6003-01A-11D-1683-08	2014019	79281158	75989402	113	44054											
PCDH11X	27328	broad.mit.edu	37	chrX	91131788	91131788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgttttccagagtcaaaaCatttttggcctcgatgtcat	10	15	7	9	1	2	1	2	0	0	1	4	2	3	1	2	1	1	1	2	1	2	4			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:91131788C>A	ENST00000373094.1	+	2	1394	c.549C>A	c.(547-549)aaC>aaA	p.N183K	PCDH11X_ENST00000361724.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N183K|PCDH11X_ENST00000504220.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N183K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N183K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	183	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGAGTCAAAACATTTTTGGCC	0.289													27	76					3.62531e-18	4.00126e-18	1	0	A	91131788	C	A	91131788	3	1	244	1	0	0	0	0	1	0	0	0	11579	477	17	4	555	4	PCDH11X	23	91131788	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	11850630	91131788	64138772	114	44055											
TCEAL6	158931	broad.mit.edu	37	chrX	101396190	101396190	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcattctgtcttcccctcCgcgtctggcttttcttcctc	1	17	6	17	3	4	0	0	0	4	0	9	0	7	0	4	1	0	2	4	1	0	5			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:101396190C>T	ENST00000372774.3	-	3	363	c.114G>A	c.(112-114)gcG>gcA	p.A38A	TCEAL6_ENST00000372773.1_Silent_p.A38A	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	38	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						tcttcccctccgcgtctggct	0.498													12	77					0	0	0	0	T	101396190	C	T	101396190	2	4	244	1	0	0	0	0	0	0	0	1	15769	639	23	1		1	TCEAL6	23	101396190	Silent	SNP	C	TCGA-CV-6003-01A-11D-1683-08	10264402	101396190	53874370	115	44056											
RGAG1	57529	broad.mit.edu	37	chrX	109694331	109694332	+	Frame_Shift_Del	DEL	AG	AG	-																															atggtagcaccagattctgcAgagatatcaccattggcaat																										TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:109694331_109694332delAG	ENST00000465301.2	+	3	732_733	c.486_487delAG	c.(484-489)gcagfs	p.AE162fs	RGAG1_ENST00000540313.1_Frame_Shift_Del_p.AE162fs	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	162										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAGATTCTGCAGAGATATCACC	0.48													23	172	---	---	---	---					-	109694332	AG	-	109694331	7	5	244	1	0	1	0	1	0	0	0	0	13356	175	7	0	488	0	RGAG1	23	109694331	Frame_Shift_Del	DEL	AG	TCGA-CV-6003-01A-11D-1683-08	8298141	109694331	45576229	116	44057											
OCRL	4952	broad.mit.edu	37	chrX	128696645	128696645	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgcattgtcaattcccatCtggctgcacacgtggaggac	8	12	10	11	1	2	0	1	0	1	0	3	2	3	2	1	3	2	3	1	3	1	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:128696645C>G	ENST00000371113.4	+	12	1291	c.1126C>G	c.(1126-1128)Ctg>Gtg	p.L376V	OCRL_ENST00000357121.5_Missense_Mutation_p.L376V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	376					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAATTCCCATCTGGCTGCACA	0.428													28	143					0	0	0	0	G	128696645	C	G	128696645	3	3	244	1	0	0	0	0	1	0	0	0	10894	912	32	2	1172	2	OCRL	23	128696645	Missense_Mutation	SNP	C	TCGA-CV-6003-01A-11D-1683-08	19002314	128696645	26573915	117	44058											
BCORL1	63035	broad.mit.edu	37	chrX	129159271	129159271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgctgaagaggaagaaacGaagacggcagaagagccgaa	17	2	14	8	3	0	6	0	1	0	5	0	9	0	7	2	2	3	2	2	2	6	0			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:129159271G>A	ENST00000540052.1	+	6	4039	c.3995G>A	c.(3994-3996)cGa>cAa	p.R1332Q	BCORL1_ENST00000303743.5_Missense_Mutation_p.R1332Q|BCORL1_ENST00000218147.7_Missense_Mutation_p.R1332Q|BCORL1_ENST00000359304.2_Intron	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1332					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGGAAGAAACGAAGACGGCAG	0.582													35	36					0	0	0	0	A	129159271	G	A	129159271	3	1	244	1	0	0	0	0	1	0	0	0	1391	1058	37	1	4017	1	BCORL1	23	129159271	Missense_Mutation	SNP	G	TCGA-CV-6003-01A-11D-1683-08	462626	129159271	26111289	118	44059											
MCF2	4168	broad.mit.edu	37	chrX	138724819	138724819	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggctgcttccattagcaCagtggcagcaatgctgggga	8	9	14	10	1	0	0	0	0	0	0	1	1	1	1	1	4	4	6	1	4	2	2			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:138724819C>T	ENST00000370576.4	-	0	68				MCF2_ENST00000370578.4_Intron|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000536274.1_De_novo_Start_OutOfFrame|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000519895.1_Intron	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCCATTAGCACAGTGGCAGCA	0.433													3	28					0	0	0	0	T	138724819	C	T	138724819	1	4	244	1	0	0	0	0	0	0	0	0	9447	493	17	4		4	MCF2	23	138724819	Translation_Start_Site	SNP	C	TCGA-CV-6003-01A-11D-1683-08	9565548	138724819	16545741	119	44060											
MAGEC3	139081	broad.mit.edu	37	chrX	140926143	140926143	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttggatgccaccttcagTgatggcagtctaggccagtg	7	11	14	9	0	2	1	1	1	1	0	2	2	2	2	3	3	1	2	3	3	1	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:140926143T>C	ENST00000298296.1	+	1	42	c.42T>C	c.(40-42)agT>agC	p.S14S		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	14										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCTTCAGTGATGGCAGTC	0.537													6	105					0	0	0	0	C	140926143	T	C	140926143	2	2	244	1	0	0	0	0	0	0	0	1	9251	1693	59	5		5	MAGEC3	23	140926143	Silent	SNP	T	TCGA-CV-6003-01A-11D-1683-08	2201324	140926143	14344417	120	44061											
SPANXN1	494118	broad.mit.edu	37	chrX	144337190	144337190	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctccctgttttcttaacaGatgcaggagacaccaaacag	12	10	7	12	0	2	2	0	0	2	2	3	3	2	2	2	1	3	2	2	1	2	3			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:144337190G>A	ENST00000370493.3	+	2	834		c.e2-1			NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1									p.?(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTTAACAGATGCAGGAGA	0.443													16	80					0	0	0	0	A	144337190	G	A	144337190	5	1	244	1	0	0	0	0	0	0	1	0	15080	956	33	2	81	2	SPANXN1	23	144337190	Splice_Site	SNP	G	TCGA-CV-6003-01A-11D-1683-08	3411047	144337190	10933370	121	44062											
AHDC1	27245	broad.mit.edu	37	chr1	27874105	27874105	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccttgggcgtggctggtgGgctagccaggtgaggggcac	4	7	21	9	1	0	1	0	1	0	0	0	1	0	1	2	8	1	3	2	8	1	2			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr1:27874105G>C	ENST00000374011.2	-	6	5490	c.4522C>G	c.(4522-4524)Cca>Gca	p.P1508A	AHDC1_ENST00000247087.5_Missense_Mutation_p.P1508A|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1508							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTGGCTGGTGGGCTAGCCAGG	0.711													3	8					0	0	0	0	C	27874105	G	C	27874105	3	2	245	1	0	0	0	0	1	0	0	0	412	1232	43	4	293	4	AHDC1	1	27874105	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08		27874105	221376516	1	44063											
APOA1BP	128240	broad.mit.edu	37	chr1	156563322	156563322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagggactcactgtgccCattgccagcatcgacattcc	9	9	9	14	1	1	1	1	1	0	0	3	3	2	2	3	1	3	1	3	1	1	2			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr1:156563322C>T	ENST00000368234.3	+	5	626	c.583C>T	c.(583-585)Cat>Tat	p.H195Y	APOA1BP_ENST00000368233.3_Silent_p.P213P|APOA1BP_ENST00000368235.3_Silent_p.P213P			Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	0	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCACTGTGCCCATTGCCAGCA	0.577													5	46					0	0	0	0	T	156563322	C	T	156563322	3	4	245	1	0	0	0	0	1	0	0	0	783	581	21	4	657	4	APOA1BP	1	156563322	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08	128689217	156563322	92687299	2	44064											
METTL13	51603	broad.mit.edu	37	chr1	171756952	171756952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccccttgagcggtgaCtatgtcattgaggatgtgca	8	11	13	9	1	1	3	1	3	0	0	1	4	1	4	2	2	4	2	2	2	1	3			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr1:171756952C>A	ENST00000361735.3	+	4	1457	c.1191C>A	c.(1189-1191)gaC>gaA	p.D397E	METTL13_ENST00000367737.5_Missense_Mutation_p.D241E|METTL13_ENST00000458517.1_Missense_Mutation_p.D396E|METTL13_ENST00000362019.3_Missense_Mutation_p.D311E	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	397							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TGAGCGGTGACTATGTCATTG	0.552													3	33					0.004672	0.00508597	1	0	A	171756952	C	A	171756952	3	1	245	1	0	0	0	0	1	0	0	0	9566	564	20	4	1205	4	METTL13	1	171756952	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08	15193630	171756952	77493669	3	44065											
IGFN1	91156	broad.mit.edu	37	chr1	201185880	201185880	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatattggtggctcctgaGggtgagagaaaaggctgggg	10	8	19	4	0	0	4	0	2	0	2	1	6	1	4	1	6	0	2	1	6	3	2	rs35601315		TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr1:201185880G>A	ENST00000335211.4	+	16	9724	c.9595_splice	c.e16+1	p.E3198_splice	IGFN1_ENST00000295591.8_Splice_Site_p.E358_splice	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.E3198D(1)|p.E358D(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGCTCCTGAGGGTGAGAGAA	0.647													28	37					0	0	0	0	A	201185880	G	A	201185880	5	1	245	1	0	0	0	0	0	0	1	0	7643	1014	35	4	9652	4	IGFN1	1	201185880	Splice_Site	SNP	G	TCGA-CV-6433-01A-11D-1683-08	29428928	201185880	48064741	4	44066											
ACTN2	88	broad.mit.edu	37	chr1	236924422	236924422	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actagagagacggctgacacCgacactgccgagcaggtcat	12	5	12	12	3	1	3	1	1	0	2	1	6	1	3	2	2	2	2	2	2	1	1			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr1:236924422C>T	ENST00000366578.4	+	20	2641	c.2475C>T	c.(2473-2475)acC>acT	p.T825T	ACTN2_ENST00000542672.1_Silent_p.T825T|ACTN2_ENST00000546208.1_Silent_p.T319T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	825					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGGCTGACACCGACACTGCCG	0.537													27	34					0	0	0	0	T	236924422	C	T	236924422	2	4	245	1	0	0	0	0	0	0	0	1	205	639	23	1		1	ACTN2	1	236924422	Silent	SNP	C	TCGA-CV-6433-01A-11D-1683-08	35738542	236924422	12326199	5	44067											
ASAP2	8853	broad.mit.edu	37	chr2	9515038	9515038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagcttatgctgatggtgtgGatcttacggaaaaaatccca	13	11	10	7	1	1	1	0	1	1	0	2	3	2	3	1	3	3	2	1	3	6	2			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr2:9515038G>A	ENST00000281419.3	+	17	2051	c.1711G>A	c.(1711-1713)Gat>Aat	p.D571N	ASAP2_ENST00000315273.4_Missense_Mutation_p.D571N	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	571					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TGATGGTGTGGATCTTACGGA	0.483													23	39					0	0	0	0	A	9515038	G	A	9515038	3	1	245	1	0	0	0	0	1	0	0	0	1015	1174	41	2	1777	2	ASAP2	2	9515038	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08		9515038	233684335	6	44068											
TMEFF2	23671	broad.mit.edu	37	chr2	192922459	192922459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaactggcaaatatcacagGtggatgtctccttttgacta	12	12	8	9	0	2	1	1	1	1	0	3	2	2	2	1	3	1	1	1	3	4	4			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr2:192922459G>A	ENST00000392314.1	-	5	873	c.482C>T	c.(481-483)aCc>aTc	p.T161I	TMEFF2_ENST00000272771.5_Missense_Mutation_p.T161I			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	161						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AATATCACAGGTGGATGTCTC	0.378													26	50					0	0	0	0	A	192922459	G	A	192922459	3	1	245	1	0	0	0	0	1	0	0	0	16108	1261	44	4	666	4	TMEFF2	2	192922459	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08	183407421	192922459	50276914	7	44069											
SACM1L	22908	broad.mit.edu	37	chr3	45776796	45776796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttccgaagcaattgcatGgattgtctagatagaaccaa	13	11	10	7	1	1	2	0	0	1	2	2	4	2	3	2	1	3	3	2	1	6	5			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr3:45776796G>A	ENST00000389061.5	+	14	1374	c.1170G>A	c.(1168-1170)atG>atA	p.M390I	SACM1L_ENST00000541314.1_Missense_Mutation_p.M329I|SACM1L_ENST00000418611.1_Missense_Mutation_p.M287I	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	390	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GCAATTGCATGGATTGTCTAG	0.408													19	53					0	0	0	0	A	45776796	G	A	45776796	3	1	245	1	0	0	0	0	1	0	0	0	13888	1348	47	4	1224	4	SACM1L	3	45776796	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08		45776796	152245634	8	44070											
CELSR3	1951	broad.mit.edu	37	chr3	48699612	48699612	+	Missense_Mutation	SNP	A	A	T																															gacagagcccctggtgacagActacctctttgcaaaggtcc																										TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr3:48699612A>T	ENST00000544264.1	-	1	736	c.456T>A	c.(454-456)agT>agA	p.S152R	CELSR3_ENST00000164024.4_Missense_Mutation_p.S152R			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	152					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGGTGACAGACTACCTCTTT	0.627													45	85					0	0	0	0	T	48699612	A	T	48699612	3	4	245	1	0	0	0	0	1	0	0	0	3252	272	10	5	9622	5	CELSR3	3	48699612	Missense_Mutation	SNP	A	TCGA-CV-6433-01A-11D-1683-08	2922816	48699612	149322818	9	44071	336	2									
CELSR3	1951	broad.mit.edu	37	chr3	48699613	48699613	+	Missense_Mutation	SNP	C	C	T																															acagagcccctggtgacagaCtacctctttgcaaaggtcct																										TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr3:48699613C>T	ENST00000544264.1	-	1	735	c.455G>A	c.(454-456)aGt>aAt	p.S152N	CELSR3_ENST00000164024.4_Missense_Mutation_p.S152N			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	152					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGTGACAGACTACCTCTTTG	0.632													47	84					0	0	0	0	T	48699613	C	T	48699613	3	4	245	1	0	0	0	0	1	0	0	0	3252	565	20	4	9623	4	CELSR3	3	48699613	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08	1	48699613	149322817	10	44072	336	2									
LRRIQ4	344657	broad.mit.edu	37	chr3	169540270	169540270	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccaggagctctgtgttctCtacaccctggaaatcattga	9	11	8	13	0	3	1	1	1	2	0	4	3	3	3	3	2	2	2	3	2	2	3			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr3:169540270C>G	ENST00000340806.6	+	1	561	c.561C>G	c.(559-561)ctC>ctG	p.L187L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	187										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTGTGTTCTCTACACCCTGG	0.488													4	124					0	0	0	0	G	169540270	C	G	169540270	2	3	245	1	0	0	0	0	0	0	0	1	9095	900	32	2		2	LRRIQ4	3	169540270	Silent	SNP	C	TCGA-CV-6433-01A-11D-1683-08	120840657	169540270	28482160	11	44073											
STIM2	57620	broad.mit.edu	37	chr4	27003875	27003875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaagattttatcctcaCagtttctatagtaattggtg	12	16	8	5	0	2	2	1	1	1	1	3	3	3	2	1	1	0	2	1	1	5	7			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr4:27003875C>T	ENST00000382009.3	+	6	1190	c.923C>T	c.(922-924)aCa>aTa	p.T308I	STIM2_ENST00000237364.5_Missense_Mutation_p.T308I|STIM2_ENST00000465503.1_Missense_Mutation_p.T221I|STIM2_ENST00000467087.1_Missense_Mutation_p.T221I|STIM2_ENST00000412829.2_Missense_Mutation_p.T308I|STIM2_ENST00000467011.1_Missense_Mutation_p.T221I	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	221				R -> G (in Ref. 4; AAH57231).	activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TTTATCCTCACAGTTTCTATA	0.343													3	37					0	0	0	0	T	27003875	C	T	27003875	3	4	245	1	0	0	0	0	1	0	0	0	15374	478	17	4	684	4	STIM2	4	27003875	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08		27003875	164150401	12	44074											
TEC	7006	broad.mit.edu	37	chr4	48169913	48169913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaatcatacatggctaCaacgatttcttcactattat	13	15	5	8	1	3	0	2	0	1	0	3	2	3	1	0	2	3	1	0	2	6	7			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr4:48169913C>T	ENST00000381501.3	-	7	710	c.553G>A	c.(553-555)Gta>Ata	p.V185I		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	185	SH3.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TACATGGCTACAACGATTTCT	0.393													6	97					0	0	0	0	T	48169913	C	T	48169913	3	4	245	1	0	0	0	0	1	0	0	0	15836	478	17	4	1390	4	TEC	4	48169913	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08	21166038	48169913	142984363	13	44075											
GNRHR	2798	broad.mit.edu	37	chr4	68610290	68610290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctaaggaatacataccgtgGgggtcctgatgaaggacccg	11	8	13	9	2	1	2	0	2	1	0	2	4	2	4	3	4	2	0	3	4	5	3			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr4:68610290G>A	ENST00000420975.2	-	2	609	c.610C>T	c.(610-612)Cca>Tca	p.P204S	RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA|GNRHR_ENST00000226413.4_Silent_p.P246P	NM_001012763.1	NP_001012781.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	0					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	ACATACCGTGGGGGTCCTGAT	0.428													20	26					0	0	0	0	A	68610290	G	A	68610290	3	1	245	1	0	0	0	0	1	0	0	0	6600	1232	43	4	256	4	GNRHR	4	68610290	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08	20440377	68610290	122543986	14	44076											
ANKRD17	26057	broad.mit.edu	37	chr4	73963791	73963791	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataaaaattggaactaactTtattgaagccttgccagaaa	18	11	6	6	0	0	2	0	1	0	1	0	3	0	3	2	1	4	0	2	1	9	7			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr4:73963791T>G	ENST00000358602.4	-	26	5136	c.5021_splice	c.e26+1	p.K1674_splice	ANKRD17_ENST00000509867.2_Splice_Site_p.K1561_splice|ANKRD17_ENST00000330838.6_Splice_Site_p.K1423_splice	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1674	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAACTAACTTTATTGAAGCC	0.333													28	50					0	0	0	0	G	73963791	T	G	73963791	5	3	245	1	0	0	0	0	0	0	1	0	646	1855	64	5	2827	5	ANKRD17	4	73963791	Splice_Site	SNP	T	TCGA-CV-6433-01A-11D-1683-08	5353501	73963791	117190485	15	44077											
SMARCA5	8467	broad.mit.edu	37	chr4	144467996	144467996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgagaagtggggtcgtgAtgatattgaaaatatagcaa	16	11	12	2	1	0	4	0	4	0	1	1	5	0	4	0	2	1	1	0	2	8	5			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr4:144467996A>G	ENST00000283131.3	+	20	3050	c.2588A>G	c.(2587-2589)gAt>gGt	p.D863G		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	863	SANT 1.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TGGGGTCGTGATGATATTGAA	0.338													15	31					0	0	0	0	G	144467996	A	G	144467996	3	3	245	1	0	0	0	0	1	0	0	0	14859	333	12	5	2666	5	SMARCA5	4	144467996	Missense_Mutation	SNP	A	TCGA-CV-6433-01A-11D-1683-08	70504205	144467996	46686280	16	44078											
TRIM2	23321	broad.mit.edu	37	chr4	154249705	154249705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaatcaggaaggagaattCatgttgaagtttggctcaaa	14	13	10	4	0	3	2	3	1	0	1	3	4	3	3	0	3	0	3	0	3	5	5			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr4:154249705C>T	ENST00000338700.5	+	11	2111	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	TRIM2_ENST00000437508.2_Silent_p.F655F	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	655						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AAGGAGAATTCATGTTGAAGT	0.343													15	30					0	0	0	0	T	154249705	C	T	154249705	2	4	245	1	0	0	0	0	0	0	0	1	16589	825	29	2		2	TRIM2	4	154249705	Silent	SNP	C	TCGA-CV-6433-01A-11D-1683-08	9781709	154249705	36904571	17	44079											
ZNF608	57507	broad.mit.edu	37	chr5	123977043	123977043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccgaagggggagtggCgatccctttccctttctgcc	4	10	14	13	2	1	0	0	0	1	0	3	3	3	1	4	4	1	1	4	4	1	2			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr5:123977043C>T	ENST00000306315.5	-	7	4787	c.4352G>A	c.(4351-4353)cGc>cAc	p.R1451H	ZNF608_ENST00000513985.1_5'UTR|ZNF608_ENST00000504926.1_Missense_Mutation_p.R1024H	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1451						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGGGGAGTGGCGATCCCTTTC	0.557													4	76					0	0	0	0	T	123977043	C	T	123977043	3	4	245	1	0	0	0	0	1	0	0	0	18129	768	27	1	198	1	ZNF608	5	123977043	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08		123977043	56938217	18	44080											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788902	140788902	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acgggatctggatttcggagGaaatggagaagtcaggtgta	12	9	16	4	2	2	1	1	0	1	1	3	6	2	5	0	6	0	1	0	6	3	2			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr5:140788902G>C	ENST00000520790.1	+	1	1133	c.1133G>C	c.(1132-1134)gGa>gCa	p.G378A	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTCGGAGGAAATGGAGAA	0.413													19	21					0	0	0	0	C	140788902	G	C	140788902	3	2	245	1	0	0	0	0	1	0	0	0	11638	1174	41	2	1135	2	PCDHGB6	5	140788902	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08	16811859	140788902	40126358	19	44081											
NMUR2	56923	broad.mit.edu	37	chr5	151784417	151784417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaggtcagagaccgccagGctgaagaggtagtagttggt	11	7	17	6	1	1	3	1	1	0	2	1	5	1	4	2	5	0	4	2	5	3	3			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr5:151784417G>T	ENST00000255262.3	-	1	423	c.258C>A	c.(256-258)agC>agA	p.S86R	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	86					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGACCGCCAGGCTGAAGAGGT	0.572													30	68					1.99505e-19	2.48659e-19	1	0	T	151784417	G	T	151784417	3	4	245	1	0	0	0	0	1	0	0	0	10577	1194	42	4	1005	4	NMUR2	5	151784417	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08	10995515	151784417	29130843	20	44082											
DSP	1832	broad.mit.edu	37	chr6	7571657	7571657	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattacatgaagacgatagcCgaccttgagttacattacca	14	10	8	9	2	0	3	0	2	0	1	0	6	0	3	3	0	4	1	3	0	5	5	rs139095230		TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr6:7571657C>T	ENST00000379802.3	+	14	2084	c.1743C>T	c.(1741-1743)gcC>gcT	p.A581A	DSP_ENST00000418664.2_Silent_p.A581A	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	581	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGACGATAGCCGACCTTGAGT	0.443													6	237					0	0	0	0	T	7571657	C	T	7571657	2	4	245	1	0	0	0	0	0	0	0	1	4817	639	23	1		1	DSP	6	7571657	Silent	SNP	C	TCGA-CV-6433-01A-11D-1683-08		7571657	163543410	21	44083											
IP6K3	117283	broad.mit.edu	37	chr6	33690555	33690555	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttttccaggccaaaaataTagccagggtctggtccatcg	10	10	11	10	1	1	0	0	0	1	0	4	0	3	0	4	4	1	1	4	4	4	4			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr6:33690555T>C	ENST00000451316.1	-	7	1710	c.1175A>G	c.(1174-1176)tAt>tGt	p.Y392C	IP6K3_ENST00000293756.4_Missense_Mutation_p.Y392C	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	392					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GCCAAAAATATAGCCAGGGTC	0.483													29	82					0	0	0	0	C	33690555	T	C	33690555	3	2	245	1	0	0	0	0	1	0	0	0	7843	1406	49	5	61	5	IP6K3	6	33690555	Missense_Mutation	SNP	T	TCGA-CV-6433-01A-11D-1683-08	26118898	33690555	137424512	22	44084											
KIAA1009	22832	broad.mit.edu	37	chr6	84862866	84862866	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttgcaggcaagtagctgCtcctgctgctctagtctttg	7	14	10	10	0	2	0	0	0	2	0	3	0	3	0	1	1	5	7	1	1	4	4			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr6:84862866C>A	ENST00000403245.3	-	23	3141	c.3027G>T	c.(3025-3027)gaG>gaT	p.E1009D	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.E933D	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	1009					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CAAGTAGCTGCTCCTGCTGCT	0.428													5	14					0.00116845	0.00132219	1	0	A	84862866	C	A	84862866	3	1	245	1	0	0	0	0	1	0	0	0	8254	796	28	4	1204	4	KIAA1009	6	84862866	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08	51172311	84862866	86252201	23	44085											
ZNF292	23036	broad.mit.edu	37	chr6	87968193	87968193	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagtggtcctcagaacacaAgatccagtcatttaaataaa	17	10	6	8	0	2	2	2	0	0	2	4	2	4	2	2	1	1	0	2	1	7	4			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr6:87968193A>G	ENST00000369577.3	+	8	4889	c.4846A>G	c.(4846-4848)Aga>Gga	p.R1616G	ZNF292_ENST00000339907.4_Missense_Mutation_p.R1611G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCAGAACACAAGATCCAGTCA	0.393													7	21					0	0	0	0	G	87968193	A	G	87968193	3	3	245	1	0	0	0	0	1	0	0	0	17921	64	3	5	4876	5	ZNF292	6	87968193	Missense_Mutation	SNP	A	TCGA-CV-6433-01A-11D-1683-08	3105327	87968193	83146874	24	44086											
FRK	2444	broad.mit.edu	37	chr6	116288718	116288718	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttattgttctcgcacctggTtttaatgttttcactgctac	6	20	6	9	1	2	0	1	0	1	0	3	0	2	0	1	1	2	5	1	1	3	9			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr6:116288718T>C	ENST00000606080.1	-	4	1241	c.795A>G	c.(793-795)aaA>aaG	p.K265K	FRK_ENST00000538210.1_Silent_p.K123K	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	265	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TCGCACCTGGTTTTAATGTTT	0.403													9	126					0	0	0	0	C	116288718	T	C	116288718	2	2	245	1	0	0	0	0	0	0	0	1	6096	1722	60	5		5	FRK	6	116288718	Silent	SNP	T	TCGA-CV-6433-01A-11D-1683-08	28320525	116288718	54826349	25	44087											
UTRN	7402	broad.mit.edu	37	chr6	145093097	145093097	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatgaccgaactctttcaAtcccttggtaagtgttatta	13	14	6	8	1	2	1	1	1	1	0	3	2	3	1	2	1	1	2	2	1	7	5			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr6:145093097A>G	ENST00000367545.3	+	58	8550	c.8550A>G	c.(8548-8550)caA>caG	p.Q2850Q	UTRN_ENST00000367526.4_Silent_p.Q405Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2850	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACTCTTTCAATCCCTTGGTA	0.269													17	44					0	0	0	0	G	145093097	A	G	145093097	2	3	245	1	0	0	0	0	0	0	0	1	17199	98	4	5		5	UTRN	6	145093097	Silent	SNP	A	TCGA-CV-6433-01A-11D-1683-08	28804379	145093097	26021970	26	44088											
ARID1B	57492	broad.mit.edu	37	chr6	157502235	157502235	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggctctcctgtctcaagtCtgcctgccgtgggcaagaag	7	9	13	12	1	3	1	1	0	3	1	5	2	3	1	3	2	2	2	3	2	3	0			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr6:157502235C>G	ENST00000346085.5	+	12	3269	c.3268C>G	c.(3268-3270)Ctg>Gtg	p.L1090V	ARID1B_ENST00000350026.5_Missense_Mutation_p.L1077V|ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.L1072V|ARID1B_ENST00000367148.1_Missense_Mutation_p.L1130V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1077	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGTCTCAAGTCTGCCTGCCGT	0.577													7	21					0	0	0	0	G	157502235	C	G	157502235	3	3	245	1	0	0	0	0	1	0	0	0	916	912	32	2	3314	2	ARID1B	6	157502235	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08	12409138	157502235	13612832	27	44089											
MUC17	140453	broad.mit.edu	37	chr7	100677648	100677648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctagtgaaggaacgactcCattaacaagcacacctgtca	14	8	7	12	1	1	1	1	1	0	0	3	3	3	2	3	1	3	1	3	1	5	2			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr7:100677648C>A	ENST00000306151.4	+	3	3015	c.2951C>A	c.(2950-2952)cCa>cAa	p.P984Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	984	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAACGACTCCATTAACAAGC	0.507													92	160					1.01459e-35	1.28316e-35	1	0	A	100677648	C	A	100677648	3	1	245	1	0	0	0	0	1	0	0	0	10044	594	21	4	2961	4	MUC17	7	100677648	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08		100677648	58461015	28	44090											
OR2A14	135941	broad.mit.edu	37	chr7	143826964	143826964	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgggactcttctttggcagCgccattgtcacgtacatggc	6	12	12	11	2	3	0	1	0	2	0	3	1	3	1	1	3	2	2	1	3	1	4			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr7:143826964C>T	ENST00000408899.2	+	1	814	c.759C>T	c.(757-759)agC>agT	p.S253S		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TCTTTGGCAGCGCCATTGTCA	0.577													4	136					0	0	0	0	T	143826964	C	T	143826964	2	4	245	1	0	0	0	0	0	0	0	1	11047	767	27	1		1	OR2A14	7	143826964	Silent	SNP	C	TCGA-CV-6433-01A-11D-1683-08	43149316	143826964	15311699	29	44091											
PDGFRL	5157	broad.mit.edu	37	chr8	17478590	17478590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagcgctacggccagttGactctggtcaactccacctc	9	9	9	14	2	2	2	1	2	1	0	4	2	3	2	3	2	3	2	3	2	3	2			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr8:17478590G>T	ENST00000541323.1	+	4	829	c.384G>T	c.(382-384)ttG>ttT	p.L128F	PDGFRL_ENST00000398074.3_Missense_Mutation_p.L128F|PDGFRL_ENST00000251630.6_Missense_Mutation_p.L128F	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	128	Ig-like C2-type 1.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		ACGGCCAGTTGACTCTGGTCA	0.567													13	35					1.05317e-09	1.27567e-09	1	0	T	17478590	G	T	17478590	3	4	245	1	0	0	0	0	1	0	0	0	11734	1281	45	2	394	2	PDGFRL	8	17478590	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08		17478590	128885432	30	44092											
POLR3D	661	broad.mit.edu	37	chr8	22107661	22107661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttggcaagctactcatccGcaagtctggaagggtgcaac	10	8	13	10	1	2	0	1	0	1	0	3	1	3	1	1	4	4	5	1	4	5	2			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr8:22107661G>A	ENST00000397802.4	+	7	1210	c.995G>A	c.(994-996)cGc>cAc	p.R332H	POLR3D_ENST00000306433.4_Missense_Mutation_p.R332H			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	332					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTACTCATCCGCAAGTCTGGA	0.562													4	56					0	0	0	0	A	22107661	G	A	22107661	3	1	245	1	0	0	0	0	1	0	0	0	12303	1087	38	1	1021	1	POLR3D	8	22107661	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08	4629071	22107661	124256361	31	44093											
CHRNA2	1135	broad.mit.edu	37	chr8	27327422	27327422	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggtatgcgagcctccctgCggcaatgccgtgggactggg	5	8	16	12	4	0	0	0	0	0	0	2	2	1	1	3	4	4	2	3	4	2	1			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr8:27327422C>T	ENST00000407991.1	-	3	758	c.150G>A	c.(148-150)ccG>ccA	p.P50P	CHRNA2_ENST00000520933.2_Silent_p.P50P|CHRNA2_ENST00000240132.2_Silent_p.P50P	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	50						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	AGCCTCCCTGCGGCAATGCCG	0.637													5	84					0	0	0	0	T	27327422	C	T	27327422	2	4	245	1	0	0	0	0	0	0	0	1	3412	755	27	1		1	CHRNA2	8	27327422	Silent	SNP	C	TCGA-CV-6433-01A-11D-1683-08	5219761	27327422	119036600	32	44094											
FABP4	2167	broad.mit.edu	37	chr8	82392828	82392828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactttcctggtggcaaagcCcactcctacagttaggaaaa	12	9	8	12	0	0	0	0	0	0	0	2	1	2	1	3	3	2	2	3	3	5	3			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr8:82392828C>G	ENST00000256104.4	-	2	174	c.79G>C	c.(79-81)Ggc>Cgc	p.G27R	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_Intron	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	27					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity	p.G27S(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GTGGCAAAGCCCACTCCTACA	0.423													3	54					0	0	0	0	G	82392828	C	G	82392828	3	3	245	1	0	0	0	0	1	0	0	0	5400	623	22	4	331	4	FABP4	8	82392828	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08	55065406	82392828	63971194	33	44095											
SYBU	55638	broad.mit.edu	37	chr8	110587412	110587412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccagctctctcatgaggCggtttgcatgaacttctgca	9	12	9	11	1	3	2	1	2	2	0	5	2	4	2	1	2	4	4	1	2	2	2			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr8:110587412C>T	ENST00000399066.3	-	6	2433	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H	SYBU_ENST00000424158.2_Missense_Mutation_p.R577H|SYBU_ENST00000528331.1_Missense_Mutation_p.R453H|SYBU_ENST00000533065.1_Missense_Mutation_p.R453H|SYBU_ENST00000532779.1_Missense_Mutation_p.R504H|SYBU_ENST00000276646.9_Missense_Mutation_p.R572H|SYBU_ENST00000528647.1_Missense_Mutation_p.R571H|SYBU_ENST00000419099.1_Missense_Mutation_p.R571H|SYBU_ENST00000433638.1_Missense_Mutation_p.R572H|SYBU_ENST00000422135.1_Missense_Mutation_p.R572H|SYBU_ENST00000533895.1_Missense_Mutation_p.R571H|SYBU_ENST00000533171.1_Missense_Mutation_p.R572H|SYBU_ENST00000446070.2_Missense_Mutation_p.R571H|SYBU_ENST00000529175.1_Missense_Mutation_p.R366H|SYBU_ENST00000408889.3_Missense_Mutation_p.R453H|SYBU_ENST00000408908.2_Missense_Mutation_p.R572H|SYBU_ENST00000440310.1_Missense_Mutation_p.R572H|SYBU_ENST00000529690.1_Missense_Mutation_p.R442H	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	572						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCTCATGAGGCGGTTTGCATG	0.542													19	37					0	0	0	0	T	110587412	C	T	110587412	3	4	245	1	0	0	0	0	1	0	0	0	15517	768	27	1	280	1	SYBU	8	110587412	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08	28194584	110587412	35776610	34	44096											
CSMD3	114788	broad.mit.edu	37	chr8	113933928	113933928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgacaggtgatgctctttgCgccctgtaggacataatctt	8	14	10	9	1	2	2	0	2	2	0	2	3	2	3	1	2	2	2	1	2	2	5	rs140758499		TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr8:113933928C>T	ENST00000297405.5	-	10	1805	c.1561G>A	c.(1561-1563)Gca>Aca	p.A521T	CSMD3_ENST00000455883.2_Missense_Mutation_p.A417T|CSMD3_ENST00000343508.3_Missense_Mutation_p.A481T|CSMD3_ENST00000352409.3_Missense_Mutation_p.A521T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	521	Sushi 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGCTCTTTGCGCCCTGTAGG	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	53					0	0	0	0	T	113933928	C	T	113933928	3	4	245	1	0	0	0	0	1	0	0	0	3978	768	27	1	9810	1	CSMD3	8	113933928	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08	3346516	113933928	32430094	35	44097											
GPIHBP1	338328	broad.mit.edu	37	chr8	144295190	144295190	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccctcttgctgtgcgggcgGccaggtgcggggcaaagggt	4	7	19	11	3	1	0	0	0	1	0	1	0	1	0	2	6	3	2	2	6	1	1			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr8:144295190G>T	ENST00000330824.2	+	1	123	c.48G>T	c.(46-48)cgG>cgT	p.R16R		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	16					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGTGCGGGCGGCCAGGTGCGG	0.672													3	23					0.00909568	0.00965714	1	0	T	144295190	G	T	144295190	2	4	245	1	0	0	0	0	0	0	0	1	6661	1190	42	4		4	GPIHBP1	8	144295190	Silent	SNP	G	TCGA-CV-6433-01A-11D-1683-08	30361262	144295190	2068832	36	44098											
ZNF658	26149	broad.mit.edu	37	chr9	40774007	40774007	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaataggatgtgaacttGaacaaaaggattttgcacat	15	11	10	5	0	0	3	0	3	0	0	0	5	0	5	0	2	3	2	0	2	6	4			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr9:40774007G>T	ENST00000602553.1	-	5	1562	c.1268C>A	c.(1267-1269)tCa>tAa	p.S423*	ZNF658_ENST00000441795.1_Nonsense_Mutation_p.S421*|ZNF658_ENST00000377626.3_Nonsense_Mutation_p.S423*			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATGTGAACTTGAACAAAAGGA	0.398													6	181					0.00116845	0.00132219	1	0	T	40774007	G	T	40774007	4	4	245	1	0	0	0	0	0	1	0	0	18164	1294	45	2	1915	2	ZNF658	9	40774007	Nonsense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08		40774007	100439424	37	44099											
TDRD7	23424	broad.mit.edu	37	chr9	100222899	100222899	+	Frame_Shift_Del	DEL	A	A	-																															tatcaaggctatggttgaacAagagtatttgcaggtagaag																										TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr9:100222899delA	ENST00000355295.4	+	7	1590	c.1295delA	c.(1294-1296)cafs	p.Q432fs	TDRD7_ENST00000422139.2_Frame_Shift_Del_p.Q358fs	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	432	Lotus/OST-HTH 3.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATGGTTGAACAAGAGTATTTG	0.408													27	91	---	---	---	---					-	100222899	A	-	100222899	7	5	245	1	0	1	0	1	0	0	0	0	15829	130	5	0	1317	0	TDRD7	9	100222899	Frame_Shift_Del	DEL	A	TCGA-CV-6433-01A-11D-1683-08	59448892	100222899	40990532	38	44100											
ABCA1	19	broad.mit.edu	37	chr9	107593339	107593339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagcccccccagacgtaccGcatgtcctcaaaggggtcag	10	5	11	15	2	2	1	2	0	0	1	3	2	3	1	5	2	2	2	5	2	3	1	rs2853574		TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr9:107593339G>A	ENST00000374736.3	-	14	2153	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	587			R -> W (in HDLD1; dbSNP:rs2853574).		Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGACGTACCGCATGTCCTCA	0.502													4	94					0	0	0	0	A	107593339	G	A	107593339	3	1	245	1	0	0	0	0	1	0	0	0	28	1086	38	1	5174	1	ABCA1	9	107593339	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08	7370440	107593339	33620092	39	44101											
UAP1L1	91373	broad.mit.edu	37	chr9	139974547	139974547	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagccgctaaaaccgaaCgggataaagatggagaagtt	17	6	12	6	3	0	2	0	0	0	2	0	5	0	3	2	2	3	3	2	2	8	4			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr9:139974547C>T	ENST00000409858.3	+	6	1163	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	UAP1L1_ENST00000360271.3_Silent_p.N254N	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like 1	377							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TAAAACCGAACGGGATAAAGA	0.473													51	59					0	0	0	0	T	139974547	C	T	139974547	2	4	245	1	0	0	0	0	0	0	0	1	16922	535	19	1		1	UAP1L1	9	139974547	Silent	SNP	C	TCGA-CV-6433-01A-11D-1683-08	32381208	139974547	1238884	40	44102											
PRKG1	5592	broad.mit.edu	37	chr10	53564372	53564372	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatgtaaaactctgggccaTtgatcgacaatgttttcaaa	15	12	7	7	1	2	1	1	1	1	0	3	2	2	1	1	1	1	2	1	1	5	4			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr10:53564372T>A	ENST00000373980.4	+	4	1037	c.620T>A	c.(619-621)aTt>aAt	p.I207N	PRKG1_ENST00000373985.1_Missense_Mutation_p.I180N|PRKG1_ENST00000401604.2_Missense_Mutation_p.I192N	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	192					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CTCTGGGCCATTGATCGACAA	0.343													12	36					0	0	0	0	A	53564372	T	A	53564372	3	1	245	1	0	0	0	0	1	0	0	0	12602	1493	52	5	904	5	PRKG1	10	53564372	Missense_Mutation	SNP	T	TCGA-CV-6433-01A-11D-1683-08		53564372	81970375	41	44103											
GFRA1	2674	broad.mit.edu	37	chr10	117823944	117823944	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaagataatagggtggacaGagcggttaccaccaggacca	15	6	12	8	1	0	2	0	0	0	2	0	4	0	4	3	4	2	1	3	4	5	4			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr10:117823944G>A	ENST00000439649.3	-	10	1715	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L	GFRA1_ENST00000369236.1_Silent_p.L450L|GFRA1_ENST00000544592.1_Silent_p.L334L|GFRA1_ENST00000355422.6_Silent_p.L455L	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	455					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AGGGTGGACAGAGCGGTTACC	0.428													12	36					0	0	0	0	A	117823944	G	A	117823944	2	1	245	1	0	0	0	0	0	0	0	1	6398	933	33	2		2	GFRA1	10	117823944	Silent	SNP	G	TCGA-CV-6433-01A-11D-1683-08	64259572	117823944	17710803	42	44104											
ZNF214	7761	broad.mit.edu	37	chr11	7022503	7022503	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctaaggactgccaaggCataaaatttttatattttaa	14	16	6	5	0	1	0	0	0	1	0	1	1	1	1	1	2	1	2	1	2	7	9			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr11:7022503C>A	ENST00000278314.4	-	3	726	c.411G>T	c.(409-411)atG>atT	p.M137I	ZNF214_ENST00000536068.1_Missense_Mutation_p.M137I	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ACTGCCAAGGCATAAAATTTT	0.393													5	180					0.014758	0.0154779	1	0	A	7022503	C	A	7022503	3	1	245	1	0	0	0	0	1	0	0	0	17865	710	25	4	1413	4	ZNF214	11	7022503	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08		7022503	127984013	43	44105											
OR4C11	219429	broad.mit.edu	37	chr11	55371281	55371281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaggttgatcatgtaaGtgtccatgcaggcaagtttc	11	11	11	8	0	1	1	1	1	0	0	3	1	2	1	1	2	2	6	1	2	2	3			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr11:55371281G>A	ENST00000302231.4	-	1	593	c.569C>T	c.(568-570)aCt>aTt	p.T190I		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GATCATGTAAGTGTCCATGCA	0.398													60	46					0	0	0	0	A	55371281	G	A	55371281	3	1	245	1	0	0	0	0	1	0	0	0	11116	1029	36	4	365	4	OR4C11	11	55371281	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08	48348778	55371281	79635235	44	44106											
RPS6KB2	6199	broad.mit.edu	37	chr11	67200832	67200832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccttcaccgcagagaacCggaagaaaaccatggataag	15	4	10	12	3	1	2	1	0	0	2	1	5	1	4	4	2	2	1	4	2	5	2			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr11:67200832C>T	ENST00000312629.5	+	10	865	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	274	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGCAGAGAACCGGAAGAAAAC	0.632													11	78					0	0	0	0	T	67200832	C	T	67200832	3	4	245	1	0	0	0	0	1	0	0	0	13742	643	23	1	858	1	RPS6KB2	11	67200832	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08	11829551	67200832	67805684	45	44107											
CUX2	23316	broad.mit.edu	37	chr12	111652070	111652070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagtgaacattctcataaaCatttaattgaactccgccgg	14	11	7	9	2	1	3	1	2	1	1	3	3	2	3	2	1	3	0	2	1	5	5			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr12:111652070C>A	ENST00000261726.6	+	2	284	c.130C>A	c.(130-132)Cat>Aat	p.H44N		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TTCTCATAAACATTTAATTGA	0.383													4	101					0.00024832	0.000288588	1	0	A	111652070	C	A	111652070	3	1	245	1	0	0	0	0	1	0	0	0	4097	478	17	4	136	4	CUX2	12	111652070	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08		111652070	22199825	46	44108											
SCG3	29106	broad.mit.edu	37	chr15	51981445	51981445	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccaagcacatacactggaAgatgaagtagcagaggtttt	15	8	11	7	0	0	3	0	1	0	2	0	4	0	4	1	2	4	4	1	2	5	4			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr15:51981445A>G	ENST00000220478.3	+	6	973	c.570A>G	c.(568-570)gaA>gaG	p.E190E	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	190					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATACACTGGAAGATGAAGTAG	0.368													25	43					0	0	0	0	G	51981445	A	G	51981445	2	3	245	1	0	0	0	0	0	0	0	1	13978	69	3	5		5	SCG3	15	51981445	Silent	SNP	A	TCGA-CV-6433-01A-11D-1683-08		51981445	50549947	47	44109											
ZNF609	23060	broad.mit.edu	37	chr15	64967739	64967739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccatattaccaaggctttGagagttactattctccaagt	12	13	6	10	0	1	1	0	1	1	1	2	2	1	1	3	1	2	2	3	1	6	6			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr15:64967739G>A	ENST00000326648.3	+	4	2814	c.2686G>A	c.(2686-2688)Gag>Aag	p.E896K		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	896						nucleus	zinc ion binding	p.E896Q(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAAGGCTTTGAGAGTTACTA	0.507													5	97					0	0	0	0	A	64967739	G	A	64967739	3	1	245	1	0	0	0	0	1	0	0	0	18130	1291	45	2	2700	2	ZNF609	15	64967739	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08	12986294	64967739	37563653	48	44110											
CDH11	1009	broad.mit.edu	37	chr16	64984710	64984710	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggatggcgatcagggcGcctgtgctcaggccggcgtt	5	7	18	11	5	2	0	2	0	0	0	2	3	2	1	2	5	1	2	2	5	0	1			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr16:64984710G>A	ENST00000394156.3	-	12	2307	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	CDH11_ENST00000566827.1_Silent_p.G492G|CDH11_ENST00000268603.4_Silent_p.G618G			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	618					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGATCAGGGCGCCTGTGCTCA	0.632			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			9	27					0	0	0	0	A	64984710	G	A	64984710	2	1	245	1	0	0	0	0	0	0	0	1	3126	1074	38	1		1	CDH11	16	64984710	Silent	SNP	G	TCGA-CV-6433-01A-11D-1683-08		64984710	25370043	49	44111											
CES2	8824	broad.mit.edu	37	chr16	66974469	66974469	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatttttggcgagtctgcGggtggcacgagtgtgtcttc	5	13	14	9	3	2	0	0	0	2	0	3	2	2	0	1	3	1	1	1	3	0	3	rs150055059		TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr16:66974469G>A	ENST00000317091.4	+	5	1863	c.879G>A	c.(877-879)gcG>gcA	p.A293A	CES2_ENST00000417689.1_Silent_p.A293A	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	229					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GCGAGTCTGCGGGTGGCACGA	0.607													35	70					0	0	0	0	A	66974469	G	A	66974469	2	1	245	1	0	0	0	0	0	0	0	1	3299	1103	39	1		1	CES2	16	66974469	Silent	SNP	G	TCGA-CV-6433-01A-11D-1683-08	1989759	66974469	23380284	50	44112											
KCNH6	81033	broad.mit.edu	37	chr17	61601637	61601645	+	In_Frame_Del	DEL	CCCAACACA	CCCAACACA	-																															cctgcgacttcctcacaggcCccaacacaccaagcagcgcc																								rs143633824		TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr17:61601637_61601645delCCCAACACA	ENST00000583023.1	+	2	225_233	c.214_222delCCCAACACA	c.(214-222)del	p.PNT72del	KCNH6_ENST00000580652.1_In_Frame_Del_p.PNT72del|KCNH6_ENST00000456941.2_In_Frame_Del_p.PNT72del|KCNH6_ENST00000314672.5_In_Frame_Del_p.PNT72del|KCNH6_ENST00000581784.1_In_Frame_Del_p.PNT72del	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	72					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCTCACAGGCCCCAACACACCAAGCAGCG	0.612													24	83	---	---	---	---					-	61601645	CCCAACACA	-	61601637	7	5	245	1	0	1	0	1	0	0	0	0	8089	623	22	0	220	0	KCNH6	17	61601637	In_Frame_Del	DEL	CCCAACACA	TCGA-CV-6433-01A-11D-1683-08		61601637	19593573	51	44113											
MUC16	94025	broad.mit.edu	37	chr19	9088749	9088749	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccattcgtggtctctgttgtGaggatggttgttgatggttc	4	17	14	6	1	1	2	0	2	1	0	4	3	1	3	1	4	0	4	1	4	0	5			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:9088749G>C	ENST00000397910.4	-	1	3269	c.3066C>G	c.(3064-3066)ctC>ctG	p.L1022L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1022	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						TCTCTGTTGTGAGGATGGTTG	0.473													9	144					0	0	0	0	C	9088749	G	C	9088749	2	2	245	1	0	0	0	0	0	0	0	1	10043	1277	45	2		2	MUC16	19	9088749	Silent	SNP	G	TCGA-CV-6433-01A-11D-1683-08		9088749	50040234	52	44114											
GCDH	2639	broad.mit.edu	37	chr19	13004312	13004312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accaggatatggctgtgctgGggtttcgtctgtggcctatg	5	13	15	8	1	1	0	0	0	1	0	2	1	1	1	2	5	1	3	2	5	2	3			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:13004312G>A	ENST00000222214.5	+	6	561	c.350G>A	c.(349-351)gGg>gAg	p.G117E	GCDH_ENST00000457854.1_Missense_Mutation_p.G117E|GCDH_ENST00000591470.1_Missense_Mutation_p.G117E|GCDH_ENST00000422947.2_Missense_Mutation_p.G73E			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	117					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GGCTGTGCTGGGGTTTCGTCT	0.597													25	27					0	0	0	0	A	13004312	G	A	13004312	3	1	245	1	0	0	0	0	1	0	0	0	6336	1232	43	4	368	4	GCDH	19	13004312	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08	3915563	13004312	46124671	53	44115											
ELL	8178	broad.mit.edu	37	chr19	18555654	18555654	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtactcgcagcggtgctTctcctggctgtagttggtgt	4	13	14	10	2	1	0	0	0	1	0	3	0	1	0	1	4	3	6	1	4	2	4			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:18555654T>A	ENST00000262809.4	-	12	1845	c.1774A>T	c.(1774-1776)Aag>Tag	p.K592*		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	592					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CAGCGGTGCTTCTCCTGGCTG	0.642			T	MLL	AL								16	41					0	0	0	0	A	18555654	T	A	18555654	4	1	245	1	0	0	0	0	0	1	0	0	5100	1792	62	5	95	5	ELL	19	18555654	Nonsense_Mutation	SNP	T	TCGA-CV-6433-01A-11D-1683-08	5551342	18555654	40573329	54	44116											
CILP2	148113	broad.mit.edu	37	chr19	19654650	19654659	+	Frame_Shift_Del	DEL	CGCCAGCTCC	CGCCAGCTCC	-																															tccagcccccgctgcggggaCgccagctcccgctgctgctc																										TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:19654650_19654659delCGCCAGCTCC	ENST00000586018.1	+	8	1416_1425	c.1314_1323delCGCCAGCTCC	c.(1312-1323)gafs	p.DASS438fs	CILP2_ENST00000291495.4_Frame_Shift_Del_p.DASS432fs			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	432						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.A433D(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCTGCGGGGACGCCAGCTCCCGCTGCTGCT	0.671													32	59	---	---	---	---					-	19654659	CGCCAGCTCC	-	19654650	7	5	245	1	0	1	0	1	0	0	0	0	3459	535	19	0	1326	0	CILP2	19	19654650	Frame_Shift_Del	DEL	CGCCAGCTCC	TCGA-CV-6433-01A-11D-1683-08	1098996	19654650	39474333	55	44117			1	64		2	2	17	N	T_CGCCAGCTCC	3.35947e-05
CILP2	148113	broad.mit.edu	37	chr19	19654666	19654666	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacgccagctcccgctgcTgctctgtgcgccgtctggag	3	8	15	15	4	2	0	0	0	2	0	3	2	3	2	3	2	4	4	3	2	0	0			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:19654666T>G	ENST00000586018.1	+	8	1432	c.1330T>G	c.(1330-1332)Tgc>Ggc	p.C444G	CILP2_ENST00000291495.4_Missense_Mutation_p.C438G			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	438						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTCCCGCTGCTGCTCTGTGCG	0.682													33	39					0	0	0	0	G	19654666	T	G	19654666	3	3	245	1	0	0	0	0	1	0	0	0	3459	1580	55	5	1342	5	CILP2	19	19654666	Missense_Mutation	SNP	T	TCGA-CV-6433-01A-11D-1683-08	16	19654666	39474317	56	44118			1	64		2	2	17	N	T_CGCCAGCTCC	3.35947e-05
RYR1	6261	broad.mit.edu	37	chr19	38979817	38979817	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accgagactttgtcctgtagGtgatgggcatctttggcgat	7	13	13	8	2	1	2	0	1	1	1	2	4	2	2	2	3	0	2	2	3	1	3			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:38979817G>A	ENST00000355481.4	+	35	5679	c.5547_splice	c.e35-1	p.V1850_splice	RYR1_ENST00000359596.3_Splice_Site_p.V1850_splice|RYR1_ENST00000360985.3_Splice_Site_p.V1850_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1850	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGTCCTGTAGGTGATGGGCAT	0.532													11	9					0	0	0	0	A	38979817	G	A	38979817	5	1	245	1	0	0	0	0	0	0	1	0	13853	1275	44	4	5686	4	RYR1	19	38979817	Splice_Site	SNP	G	TCGA-CV-6433-01A-11D-1683-08	19325151	38979817	20149166	57	44119											
EXOC3L2	90332	broad.mit.edu	37	chr19	45716536	45716536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagagttccaggtcccGggccacggccaggatctcct	7	7	12	15	2	2	1	1	0	1	1	5	3	4	2	5	4	0	1	5	4	0	1			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:45716536G>A	ENST00000413988.1	-	10	1061	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.R341W|AC006126.3_ENST00000591569.1_Intron	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	341								p.R341W(1)		endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		TCCAGGTCCCGGGCCACGGCC	0.657													9	24					0	0	0	0	A	45716536	G	A	45716536	3	1	245	1	0	0	0	0	1	0	0	0	5342	1115	39	1	212	1	EXOC3L2	19	45716536	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08	6736719	45716536	13412447	58	44120											
ZNF880	400713	broad.mit.edu	37	chr19	52887785	52887785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcacgacatcagaaaattCatagtggagagaaaccttac	16	9	8	8	1	2	2	2	0	0	2	2	5	2	3	1	1	3	1	1	1	5	4			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:52887785C>T	ENST00000422689.2	+	4	967	c.952C>T	c.(952-954)Cat>Tat	p.H318Y		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	318					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TCAGAAAATTCATAGTGGAGA	0.413													19	13					0	0	0	0	T	52887785	C	T	52887785	3	4	245	1	0	0	0	0	1	0	0	0	18290	826	29	2	966	2	ZNF880	19	52887785	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08	7171249	52887785	6241198	59	44121											
ZNF835	90485	broad.mit.edu	37	chr19	57176313	57176313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgggctctccccaggcGcgctgcacctccgggaactg	4	7	12	18	4	1	0	0	0	1	0	4	1	2	1	5	3	2	3	5	3	1	1			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:57176313G>A	ENST00000537055.2	-	2	485	c.254C>T	c.(253-255)gCg>gTg	p.A85V		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.A107V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTCCCCAGGCGCGCTGCACCT	0.647													10	17					0	0	0	0	A	57176313	G	A	57176313	3	1	245	1	0	0	0	0	1	0	0	0	18279	1087	38	1	1361	1	ZNF835	19	57176313	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08	4288528	57176313	1952670	60	44122											
KIF3B	9371	broad.mit.edu	37	chr20	30897975	30897975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttcacccacatctctcGatcccagaatcaacaatacc	13	10	2	16	1	4	1	2	0	2	1	7	2	5	1	3	0	2	0	3	0	5	3			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr20:30897975G>T	ENST00000375712.3	+	2	562	c.395G>T	c.(394-396)cGa>cTa	p.R132L		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	132	Kinesin-motor.				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|plus-end-directed microtubule motor activity|Rho GTPase binding			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)			CACATCTCTCGATCCCAGAAT	0.463													5	102					1.6384e-10	2.01289e-10	1	0	T	30897975	G	T	30897975	3	4	245	1	0	0	0	0	1	0	0	0	8352	1058	37	3	397	3	KIF3B	20	30897975	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08		30897975	32127545	61	44123											
MAPK11	5600	broad.mit.edu	37	chr22	50703752	50703752	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccactgccatgctcacccTtccactcctccagcgtgcgc	6	8	7	20	2	1	0	1	0	0	0	4	0	4	0	6	0	5	1	6	0	0	1			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr22:50703752T>C	ENST00000330651.6	-	11	1113	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R		NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	338					activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATGCTCACCCTTCCACTCCTC	0.637													3	63					0	0	0	0	C	50703752	T	C	50703752	3	2	245	1	0	0	0	0	1	0	0	0	9342	1609	56	5	89	5	MAPK11	22	50703752	Missense_Mutation	SNP	T	TCGA-CV-6433-01A-11D-1683-08		50703752	600814	62	44124											
CXorf22	170063	broad.mit.edu	37	chrX	35938046	35938046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acatgcagctgcgggtgatcCcggctgaggtgaagttcctg	7	9	15	10	2	0	3	0	3	0	0	2	3	2	3	2	3	3	4	2	3	1	1			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chrX:35938046C>T	ENST00000297866.5	+	1	196	c.130C>T	c.(130-132)Ccg>Tcg	p.P44S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	44										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GCGGGTGATCCCGGCTGAGGT	0.562													5	5					0	0	0	0	T	35938046	C	T	35938046	3	4	245	1	0	0	0	0	1	0	0	0	4134	623	22	4	132	4	CXorf22	23	35938046	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08		35938046	119332514	63	44125											
TAF1	6872	broad.mit.edu	37	chrX	70613166	70613166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagattaaaaagttgtccCgctgggaagtgattgatgtg	11	12	13	5	2	0	3	0	2	0	1	1	4	1	4	1	1	0	3	1	1	5	4			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chrX:70613166C>T	ENST00000449580.1	+	21	3115	c.3064C>T	c.(3064-3066)Cgc>Tgc	p.R1022C	TAF1_ENST00000373790.4_Missense_Mutation_p.R1022C|TAF1_ENST00000423759.1_Missense_Mutation_p.R1043C|TAF1_ENST00000276072.3_Missense_Mutation_p.R1043C			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1022					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.R1022G(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAAGTTGTCCCGCTGGGAAGT	0.443													24	12					0	0	0	0	T	70613166	C	T	70613166	3	4	245	1	0	0	0	0	1	0	0	0	15604	652	23	1	3209	1	TAF1	23	70613166	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08	34675120	70613166	84657394	64	44126											
GPC3	2719	broad.mit.edu	37	chrX	132826430	132826430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgtccattccagcaaaggGtgtcgttttccgccacaggg	7	11	11	12	2	0	0	0	0	0	0	4	0	3	0	4	2	1	2	4	2	1	4			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chrX:132826430G>A	ENST00000370818.3	-	5	1704	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I	GPC3_ENST00000394299.2_Missense_Mutation_p.T443I|GPC3_ENST00000543339.1_Missense_Mutation_p.T366I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	420						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CCAGCAAAGGGTGTCGTTTTC	0.388			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				25	10					0	0	0	0	A	132826430	G	A	132826430	3	1	245	1	0	0	0	0	1	0	0	0	6648	1261	44	4	499	4	GPC3	23	132826430	Missense_Mutation	SNP	G	TCGA-CV-6433-01A-11D-1683-08	62213264	132826430	22444130	65	44127											
MAGEC1	9947	broad.mit.edu	37	chrX	140994302	140994302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgagggttttccccagtCtcctctccagattcctggga	5	15	9	12	0	2	2	0	1	2	1	6	3	4	3	5	2	0	1	5	2	0	5			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chrX:140994302C>T	ENST00000285879.4	+	4	1398	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	371							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCCCAGTCTCCTCTCCAG	0.478										HNSCC(15;0.026)			22	72					0	0	0	0	T	140994302	C	T	140994302	3	4	245	1	0	0	0	0	1	0	0	0	9249	913	32	2	1118	2	MAGEC1	23	140994302	Missense_Mutation	SNP	C	TCGA-CV-6433-01A-11D-1683-08	8167872	140994302	14276258	66	44128											
MEGF6	1953	broad.mit.edu	37	chr1	3428684	3428684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccagccctgcggcacattCgtccacatctggaggggaga	8	6	14	13	2	1	1	0	0	1	1	3	3	2	2	3	5	2	1	3	5	0	1			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:3428684C>T	ENST00000356575.4	-	8	1088	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	MEGF6_ENST00000294599.4_Missense_Mutation_p.E183K	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	288	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCGGCACATTCGTCCACATCT	0.647													30	95					0	0	0	0	T	3428684	C	T	3428684	3	4	246	1	0	0	0	0	1	0	0	0	9531	893	31	1	3883	1	MEGF6	1	3428684	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08		3428684	245821937	1	44129											
TGFBR3	7049	broad.mit.edu	37	chr1	92161270	92161270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaggcccccgtcaggagtGctccgatcacaaaggctgca	11	5	11	14	2	2	0	2	0	0	0	3	2	3	1	3	3	2	3	3	3	2	0			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:92161270G>A	ENST00000212355.4	-	16	2861	c.2396C>T	c.(2395-2397)gCa>gTa	p.A799V	TGFBR3_ENST00000525962.1_Missense_Mutation_p.A799V|TGFBR3_ENST00000370399.2_Missense_Mutation_p.A798V	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	799					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGTCAGGAGTGCTCCGATCAC	0.473													17	34					0	0	0	0	A	92161270	G	A	92161270	3	1	246	1	0	0	0	0	1	0	0	0	15917	1319	46	4	167	4	TGFBR3	1	92161270	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	88732586	92161270	157089351	2	44130											
OAZ3	51686	broad.mit.edu	37	chr1	151740703	151740703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccttggatcaaggcaaccGggaaaggtgactgagcctgg	10	6	16	9	1	1	2	1	2	0	0	1	4	1	4	3	6	2	1	3	6	3	1			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:151740703G>A	ENST00000315067.8	+	4	505	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000479764.1_Intron|OAZ3_ENST00000453029.2_Missense_Mutation_p.R126Q|OAZ3_ENST00000321531.5_Missense_Mutation_p.R113Q|RP11-98D18.3_ENST00000512280.1_RNA			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	110					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CAAGGCAACCGGGAAAGGTGA	0.522													5	17					0	0	0	0	A	151740703	G	A	151740703	3	1	246	1	0	0	0	0	1	0	0	0	10877	1116	39	1	520	1	OAZ3	1	151740703	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	59579433	151740703	97509918	3	44131											
FLG	2312	broad.mit.edu	37	chr1	152281685	152281685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcgagtgtctagagctgtCggcccgagaggaagcttcat	8	9	14	10	3	2	2	1	0	1	2	3	5	2	3	1	2	3	2	1	2	2	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:152281685C>T	ENST00000368799.1	-	3	5712	c.5677G>A	c.(5677-5679)Gac>Aac	p.D1893N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1893	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGAGCTGTCGGCCCGAGAG	0.572									Ichthyosis				56	235					0	0	0	0	T	152281685	C	T	152281685	3	4	246	1	0	0	0	0	1	0	0	0	5967	884	31	1	6512	1	FLG	1	152281685	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	540982	152281685	96968936	4	44132											
PLEKHA6	22874	broad.mit.edu	37	chr1	204210594	204210594	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgggcgattttgtccgaGggggcacaacgccaactgca	9	7	14	11	3	0	0	0	0	0	0	1	2	1	0	2	3	3	2	2	3	2	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:204210594G>C	ENST00000272203.3	-	17	2634	c.2318C>G	c.(2317-2319)cCt>cGt	p.P773R	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P793R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	773										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTTTGTCCGAGGGGGCACAAC	0.572													3	15					0	0	0	0	C	204210594	G	C	204210594	3	2	246	1	0	0	0	0	1	0	0	0	12132	1000	35	4	852	4	PLEKHA6	1	204210594	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	51928909	204210594	45040027	5	44133											
NTSR2	23620	broad.mit.edu	37	chr2	11802096	11802096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttacagaggacttaactgaGaacctggacgctgcgctgga	11	8	13	9	2	0	2	0	1	0	2	0	6	0	5	1	3	4	3	1	3	3	2	rs145680805		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr2:11802096G>A	ENST00000306928.5	-	2	929	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	299					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	ACTTAACTGAGAACCTGGACG	0.577													20	89					0	0	0	0	A	11802096	G	A	11802096	3	1	246	1	0	0	0	0	1	0	0	0	10782	942	33	2	349	2	NTSR2	2	11802096	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08		11802096	231397277	6	44134											
CASP8	841	broad.mit.edu	37	chr2	202131241	202131241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagaaatctttatgatattgGggaacaactggacagtgaag	15	10	11	5	0	1	3	0	2	1	1	1	5	1	5	0	3	2	0	0	3	6	4			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr2:202131241G>A	ENST00000358485.4	+	2	405	c.209G>A	c.(208-210)gGg>gAg	p.G70E	CASP8_ENST00000264274.9_Missense_Mutation_p.G11E|CASP8_ENST00000264275.5_Missense_Mutation_p.G11E|CASP8_ENST00000392258.3_Missense_Mutation_p.G11E|CASP8_ENST00000392259.2_Missense_Mutation_p.G11E|CASP8_ENST00000323492.7_Missense_Mutation_p.G11E|CASP8_ENST00000432109.2_Missense_Mutation_p.G11E|CASP8_ENST00000392266.3_Missense_Mutation_p.G11E	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	11	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TATGATATTGGGGAACAACTG	0.398										HNSCC(4;0.00038)			15	51					0	0	0	0	A	202131241	G	A	202131241	3	1	246	1	0	0	0	0	1	0	0	0	2702	1232	43	4	215	4	CASP8	2	202131241	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	190329145	202131241	41068132	7	44135											
LMCD1	29995	broad.mit.edu	37	chr3	8609125	8609125	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcctgctcccctccccaGataatattcgctgaggacta	8	12	6	15	1	1	2	0	1	1	1	5	3	3	3	5	1	1	2	5	1	3	5			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:8609125G>A	ENST00000157600.3	+	6	1171		c.e6-1		LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Splice_Site|LMCD1_ENST00000454244.1_Splice_Site	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1						positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		CCCCTCCCCAGATAATATTCG	0.532													44	230					0	0	0	0	A	8609125	G	A	8609125	5	1	246	1	0	0	0	0	0	0	1	0	8899	956	33	2	961	2	LMCD1	3	8609125	Splice_Site	SNP	G	TCGA-CV-6436-01A-11D-1683-08		8609125	189413305	8	44136			1	65		2	2	35	G		9.774457e-05
LMCD1	29995	broad.mit.edu	37	chr3	8609159	8609159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggactaccagcgtgtggaaGatctggcctggcaccgaaag	11	6	14	10	2	1	1	0	0	1	1	1	4	1	3	3	4	2	1	3	4	3	1			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:8609159G>A	ENST00000157600.3	+	6	1205	c.973G>A	c.(973-975)Gat>Aat	p.D325N	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Missense_Mutation_p.D213N|LMCD1_ENST00000454244.1_Missense_Mutation_p.D252N	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	325	LIM zinc-binding 2.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCGTGTGGAAGATCTGGCCTG	0.552													51	248					0	0	0	0	A	8609159	G	A	8609159	3	1	246	1	0	0	0	0	1	0	0	0	8899	942	33	2	995	2	LMCD1	3	8609159	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	34	8609159	189413271	9	44137			1	65		2	2	35	G		9.774457e-05
CCDC13	152206	broad.mit.edu	37	chr3	42799629	42799629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatttacctcttctcaaagCtatttttcgagtttggctcc	7	17	6	11	1	2	0	1	0	2	0	5	1	3	0	2	1	2	4	2	1	3	7			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:42799629C>A	ENST00000310232.6	-	2	292	c.209G>T	c.(208-210)aGc>aTc	p.S70I	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	70										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTTCTCAAAGCTATTTTTCGA	0.498													8	41					5.4927e-09	6.50987e-09	1	0	A	42799629	C	A	42799629	3	1	246	1	0	0	0	0	1	0	0	0	2790	797	28	4	1998	4	CCDC13	3	42799629	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	34190470	42799629	155222801	10	44138											
CCDC14	64770	broad.mit.edu	37	chr3	123665761	123665761	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacatccttcactgtttttgTatctcgcacatgtatgttta	8	19	5	9	1	2	0	1	0	1	0	4	0	3	0	1	0	1	5	1	0	4	8			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:123665761T>C	ENST00000485727.1	-	4	5226	c.634A>G	c.(634-636)Aca>Gca	p.T212A	CCDC14_ENST00000433542.2_Missense_Mutation_p.T371A|CCDC14_ENST00000310351.4_Missense_Mutation_p.T252A|CCDC14_ENST00000489746.1_Missense_Mutation_p.T212A|CCDC14_ENST00000488653.2_Missense_Mutation_p.T412A|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	412						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ACTGTTTTTGTATCTCGCACA	0.383													31	104					0	0	0	0	C	123665761	T	C	123665761	3	2	246	1	0	0	0	0	1	0	0	0	2798	1638	57	5	1651	5	CCDC14	3	123665761	Missense_Mutation	SNP	T	TCGA-CV-6436-01A-11D-1683-08	80866132	123665761	74356669	11	44139											
PIK3CA	5290	broad.mit.edu	37	chr3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtaggcaaccgtgaagaaAagatcctcaatcgagaaatt	17	7	9	8	2	1	4	1	1	0	3	3	5	2	4	2	1	1	2	2	1	7	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:178916944A>G	ENST00000263967.3	+	2	488	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K111E(13)|p.K111_L113delKIL(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCGTGAAGAAAAGATCCTCAA	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			23	64					0	0	0	0	G	178916944	A	G	178916944	3	3	246	1	0	0	0	0	1	0	0	0	11985	15	1	5	333	5	PIK3CA	3	178916944	Missense_Mutation	SNP	A	TCGA-CV-6436-01A-11D-1683-08	55251183	178916944	19105486	12	44140											
EIF4G1	1981	broad.mit.edu	37	chr3	184039612	184039612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccccctcgccaccagctgtgGacttaagcccagtcagtgag	8	7	10	16	1	1	1	1	1	0	0	2	2	1	2	5	1	2	1	5	1	1	1			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:184039612G>A	ENST00000342981.4	+	9	1654	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	EIF4G1_ENST00000382330.3_Missense_Mutation_p.D421N|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D421N|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D218N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D327N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D374N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D421N|EIF4G1_ENST00000319274.6_Missense_Mutation_p.D414N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D250N|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D250N|EIF4G1_ENST00000411531.1_Missense_Mutation_p.D374N|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D327N|EIF4G1_ENST00000434061.2_Missense_Mutation_p.D218N|EIF4G1_ENST00000346169.2_Missense_Mutation_p.D414N	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	414					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.D414N(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCAGCTGTGGACTTAAGCCC	0.632													64	255					0	0	0	0	A	184039612	G	A	184039612	3	1	246	1	0	0	0	0	1	0	0	0	5074	1174	41	2	1270	2	EIF4G1	3	184039612	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	5122668	184039612	13982818	13	44141											
FAM43A	131583	broad.mit.edu	37	chr3	194407683	194407683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgctggcgcgggcgtgccCcgaaggcgcgcttagccggg	3	5	18	15	8	0	0	0	0	0	0	1	1	0	0	3	4	2	2	3	4	2	1			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:194407683C>A	ENST00000329759.4	+	1	1062	c.128C>A	c.(127-129)cCc>cAc	p.P43H		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	43										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		CGGGCGTGCCCCGAAGGCGCG	0.687													7	18					0.0293803	0.0308253	1	0	A	194407683	C	A	194407683	3	1	246	1	0	0	0	0	1	0	0	0	5609	623	22	4	130	4	FAM43A	3	194407683	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	10368071	194407683	3614747	14	44142											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107523	6107523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgatcttggcggtgcGcgccgcctcctgctcgtgct	1	12	12	16	5	1	1	0	1	1	0	4	1	3	1	4	2	3	2	4	2	0	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:6107523G>A	ENST00000409021.3	-	3	750	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R101C|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R101C|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000457227.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	101	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTGGCGGTGCGCGCCGCCTCC	0.677													4	17					0	0	0	0	A	6107523	G	A	6107523	3	1	246	1	0	0	0	0	1	0	0	0	7993	1087	38	1	2345	1	JAKMIP1	4	6107523	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08		6107523	185046753	15	44143											
AFF1	4299	broad.mit.edu	37	chr4	88035995	88035995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgaacccaagccagcagtGcccccctccagtgagaagaa	14	3	9	15	1	0	2	0	1	0	2	1	4	1	2	6	0	5	1	6	0	5	0			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:88035995G>A	ENST00000307808.6	+	11	2409	c.1989G>A	c.(1987-1989)gtG>gtA	p.V663V	AFF1_ENST00000544085.1_Silent_p.V301V|AFF1_ENST00000395146.4_Silent_p.V670V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	663						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGCCAGCAGTGCCCCCCTCCA	0.607													8	34					0	0	0	0	A	88035995	G	A	88035995	2	1	246	1	0	0	0	0	0	0	0	1	356	1306	46	4		4	AFF1	4	88035995	Silent	SNP	G	TCGA-CV-6436-01A-11D-1683-08	81928472	88035995	103118281	16	44144											
HSD17B11	51170	broad.mit.edu	37	chr4	88312141	88312141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactgattttctcctcttagGaataaaaagcttcacgaagg	13	12	8	8	1	3	1	1	1	2	0	4	4	3	2	1	2	1	1	1	2	6	5			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:88312141G>T	ENST00000358290.4	-	1	397	c.82C>A	c.(82-84)Cct>Act	p.P28T	HSD17B11_ENST00000507286.1_Missense_Mutation_p.P28T	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	28					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)		CTCCTCTTAGGAATAAAAAGC	0.468													14	39					4.3838e-07	4.92216e-07	1	0	T	88312141	G	T	88312141	3	4	246	1	0	0	0	0	1	0	0	0	7430	1174	41	2	848	2	HSD17B11	4	88312141	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	276146	88312141	102842135	17	44145											
FBXW7	55294	broad.mit.edu	37	chr4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcatattgaacacagcGgactgctgcaacatgaccca	13	7	8	13	1	1	2	1	2	0	0	1	3	1	3	2	1	5	2	2	1	3	2	rs149680468		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								27	87					0	0	0	0	C	153247289	G	C	153247289	3	2	246	1	0	0	0	0	1	0	0	0	5814	1116	39	3	622	3	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	64935148	153247289	37906987	18	44146											
GFRA3	2676	broad.mit.edu	37	chr5	137593489	137593489	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccctgcgcgtggggctcGgcggccttctcgaagaaagt	6	7	16	12	5	1	1	0	0	1	1	3	2	1	1	2	5	1	1	2	5	2	1			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:137593489G>A	ENST00000274721.3	-	4	870	c.624C>T	c.(622-624)gcC>gcT	p.A208A	GFRA3_ENST00000378362.3_Silent_p.A177A	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	208					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGTGGGGCTCGGCGGCCTTCT	0.726													11	33					0	0	0	0	A	137593489	G	A	137593489	2	1	246	1	0	0	0	0	0	0	0	1	6400	1103	39	1		1	GFRA3	5	137593489	Silent	SNP	G	TCGA-CV-6436-01A-11D-1683-08		137593489	43321771	19	44147											
KDM3B	51780	broad.mit.edu	37	chr5	137762666	137762666	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtattctctgtcttccagaaCgactacggtcagaagatggg	10	11	11	9	2	3	3	1	0	2	3	5	4	4	3	1	2	2	1	1	2	4	4			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:137762666C>T	ENST00000314358.5	+	18	4614	c.4414C>T	c.(4414-4416)Cga>Tga	p.R1472*	KDM3B_ENST00000394866.1_Nonsense_Mutation_p.R1128*|KDM3B_ENST00000542866.1_Nonsense_Mutation_p.R504*	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1472					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCTTCCAGAACGACTACGGTC	0.463													8	28					0	0	0	0	T	137762666	C	T	137762666	4	4	246	1	0	0	0	0	0	1	0	0	8180	528	19	1	4484	1	KDM3B	5	137762666	Nonsense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	169177	137762666	43152594	20	44148											
PCDHA8	56140	broad.mit.edu	37	chr5	140220964	140220964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactactactcttgcttctgCtcctcgcagcctggaaggtg	6	12	10	13	1	2	0	0	0	2	0	4	2	3	1	2	2	5	3	2	2	3	4			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:140220964C>T	ENST00000531613.1	+	1	58	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	PCDHA8_ENST00000378123.3_Missense_Mutation_p.L20F|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1												p.L20F(1)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGCTTCTGCTCCTCGCAGC	0.547													13	85					0	0	0	0	T	140220964	C	T	140220964	3	4	246	1	0	0	0	0	1	0	0	0	11601	797	28	4	60	4	PCDHA8	5	140220964	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	2458298	140220964	40694296	21	44149											
PCDHB7	56129	broad.mit.edu	37	chr5	140553798	140553798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctacaccctgtttgtccGtgagaacaacagccccgccc	8	8	7	18	2	0	1	0	1	0	1	2	2	2	1	6	0	4	1	6	0	3	2	rs137953621		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:140553798G>A	ENST00000231137.3	+	1	1556	c.1382G>A	c.(1381-1383)cGt>cAt	p.R461H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		461	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTTGTCCGTGAGAACAAC	0.607													18	85					0	0	0	0	A	140553798	G	A	140553798	3	1	246	1	0	0	0	0	1	0	0	0	11618	1145	40	1	1384	1	PCDHB7	5	140553798	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	332834	140553798	40361462	22	44150											
GCM2	9247	broad.mit.edu	37	chr6	10877388	10877388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactctgctgtttcagccGtgccttgtcgcagatggccg	4	12	11	14	3	3	1	2	0	1	1	4	1	3	1	3	1	3	3	3	1	0	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:10877388G>A	ENST00000379491.4	-	2	475	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	110			R -> W (in FIH; abolishes DNA binding ability).		cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGTTTCAGCCGTGCCTTGTCG	0.562													15	81					0	0	0	0	A	10877388	G	A	10877388	3	1	246	1	0	0	0	0	1	0	0	0	6347	1144	40	1	1208	1	GCM2	6	10877388	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08		10877388	160237679	23	44151											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158692	26158692	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggagatccagacggccGtgcgcctgctgcttccgggg	5	6	16	14	4	0	2	0	0	0	2	2	3	2	2	5	4	3	2	5	4	0	1			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:26158692G>C	ENST00000289316.2	+	1	319	c.295G>C	c.(295-297)Gtg>Ctg	p.V99L	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.V99L	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	99					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CCAGACGGCCGTGCGCCTGCT	0.617													20	94					0	0	0	0	C	26158692	G	C	26158692	3	2	246	1	0	0	0	0	1	0	0	0	7193	1145	40	3	297	3	HIST1H2BD	6	26158692	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	15281304	26158692	144956375	24	44152											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100520	27100520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcgggagcagacttcgctgGctctggcatagcactgtgta	7	9	15	10	2	1	1	0	0	1	1	2	2	1	2	0	4	2	6	0	4	2	3			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:27100520G>T	ENST00000607124.1	-	1	9	c.10C>A	c.(10-12)Cca>Aca	p.P4T	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.P4T|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.P4T			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	4					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GACTTCGCTGGCTCTGGCATA	0.527													10	63					2.17888e-05	2.40428e-05	1	0	T	27100520	G	T	27100520	3	4	246	1	0	0	0	0	1	0	0	0	7199	1203	42	4	374	4	HIST1H2BJ	6	27100520	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	941828	27100520	144014547	25	44153											
PKHD1	5314	broad.mit.edu	37	chr6	51907774	51907774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcaccaacatcaagatccGatgcattccaacaggtagca	14	8	6	13	1	2	1	2	0	1	1	5	2	4	1	3	1	4	3	3	1	4	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:51907774G>A	ENST00000371117.3	-	27	3255	c.2980C>T	c.(2980-2982)Cgg>Tgg	p.R994W	PKHD1_ENST00000340994.4_Missense_Mutation_p.R994W	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	994	IPT/TIG 4.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R994W(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATCAAGATCCGATGCATTCCA	0.453													17	63					0	0	0	0	A	51907774	G	A	51907774	3	1	246	1	0	0	0	0	1	0	0	0	12043	1057	37	1	9447	1	PKHD1	6	51907774	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	24807254	51907774	119207293	26	44154											
COX7A2	1347	broad.mit.edu	37	chr6	75950913	75950913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacagtttttgcttctcCggaactttatttttaaaatg	10	18	7	6	1	1	0	0	0	1	0	2	2	1	2	1	2	3	2	1	2	5	8			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:75950913C>T	ENST00000370081.2	-	3	493	c.183G>A	c.(181-183)ccG>ccA	p.P61P	COX7A2_ENST00000370089.2_Silent_p.P61P|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000472311.2_Silent_p.P29P|COX7A2_ENST00000230459.4_Silent_p.P29P|COX7A2_ENST00000509698.1_Silent_p.P29P			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	29						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						TTTGCTTCTCCGGAACTTTAT	0.348													30	143					0	0	0	0	T	75950913	C	T	75950913	2	4	246	1	0	0	0	0	0	0	0	1	3810	639	23	1		1	COX7A2	6	75950913	Silent	SNP	C	TCGA-CV-6436-01A-11D-1683-08	24043139	75950913	95164154	27	44155											
EPHA7	2045	broad.mit.edu	37	chr6	93967961	93967961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgcaacatctcttttccCtggaagtttcaaacggccac	10	12	6	13	1	2	0	1	0	1	0	4	1	3	1	2	2	4	2	2	2	4	4			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:93967961C>A	ENST00000369303.4	-	11	2150	c.1966G>T	c.(1966-1968)Ggg>Tgg	p.G656W		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	656	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G656W(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCTCTTTTCCCTGGAAGTTTC	0.383													20	79					3.83957e-06	4.27361e-06	1	0	A	93967961	C	A	93967961	3	1	246	1	0	0	0	0	1	0	0	0	5210	681	24	4	1058	4	EPHA7	6	93967961	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	18017048	93967961	77147106	28	44156											
CLVS2	134829	broad.mit.edu	37	chr6	123332281	123332281	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactcacaccaagtatgctgCgattagctattgaaggcctg	12	10	9	10	1	1	1	1	1	0	0	1	2	1	1	2	1	4	3	2	1	6	4			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:123332281C>T	ENST00000275162.4	+	3	1876	c.541C>T	c.(541-543)Cga>Tga	p.R181*	CLVS2_ENST00000368438.1_Nonsense_Mutation_p.R35*	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	181	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.R181*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AAGTATGCTGCGATTAGCTAT	0.393													9	54					0	0	0	0	T	123332281	C	T	123332281	4	4	246	1	0	0	0	0	0	1	0	0	3602	760	27	1	547	1	CLVS2	6	123332281	Nonsense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	29364320	123332281	47782786	29	44157											
UTRN	7402	broad.mit.edu	37	chr6	145021235	145021235	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacagggcccatttggaGgccagcgctgagaagtggaa	11	6	14	10	1	1	1	1	1	0	1	1	4	1	3	2	4	2	1	2	4	3	1			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:145021235G>A	ENST00000367545.3	+	52	7665	c.7665G>A	c.(7663-7665)gaG>gaA	p.E2555E	UTRN_ENST00000367526.4_Silent_p.E110E	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2555					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCCATTTGGAGGCCAGCGCTG	0.353													9	47					0	0	0	0	A	145021235	G	A	145021235	2	1	246	1	0	0	0	0	0	0	0	1	17199	991	35	4		4	UTRN	6	145021235	Silent	SNP	G	TCGA-CV-6436-01A-11D-1683-08	21688954	145021235	26093832	30	44158											
C7orf63	79846	broad.mit.edu	37	chr7	89915651	89915651	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaagaagccattgttttgGaaatccagtctgatatatta	14	13	9	5	0	1	2	0	1	1	1	2	4	2	4	2	2	1	1	2	2	6	6			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr7:89915651G>T	ENST00000389297.4	+	14	1845	c.1594G>T	c.(1594-1596)Gaa>Taa	p.E532*	C7orf63_ENST00000497910.1_Nonsense_Mutation_p.E514*|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.E532*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	532							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CATTGTTTTGGAAATCCAGTC	0.348													13	63					4.3838e-07	4.92216e-07	1	0	T	89915651	G	T	89915651	4	4	246	1	0	0	0	0	0	1	0	0	2432	1175	41	2	1648	2	C7orf63	7	89915651	Nonsense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08		89915651	69223012	31	44159											
SRPK2	6733	broad.mit.edu	37	chr7	104801043	104801043	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatggtggccaagtacttCgaagaccatgcagacatctg	12	8	12	9	1	1	3	0	0	1	3	2	5	1	3	2	2	2	2	2	2	3	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr7:104801043C>A	ENST00000357311.3	-	6	670	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	SRPK2_ENST00000393651.3_Nonsense_Mutation_p.E178*|SRPK2_ENST00000489828.1_Nonsense_Mutation_p.E167*	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	167	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.E167*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CCAAGTACTTCGAAGACCATG	0.473													9	26					1.76689e-08	2.07488e-08	1	0	A	104801043	C	A	104801043	4	1	246	1	0	0	0	0	0	1	0	0	15250	893	31	3	1607	3	SRPK2	7	104801043	Nonsense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	14885392	104801043	54337620	32	44160											
ZNF467	168544	broad.mit.edu	37	chr7	149461821	149461821	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagaagaagagcgggggCggcgccacctcggggggagc	8	2	20	11	4	1	3	1	0	0	3	2	4	1	4	2	6	2	1	2	6	2	0			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr7:149461821C>T	ENST00000302017.3	-	5	2183	c.1770G>A	c.(1768-1770)ccG>ccA	p.P590P	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGAGCGGGGGCGGCGCCACCT	0.701													4	14					0	0	0	0	T	149461821	C	T	149461821	2	4	246	1	0	0	0	0	0	0	0	1	18022	755	27	1		1	ZNF467	7	149461821	Silent	SNP	C	TCGA-CV-6436-01A-11D-1683-08	44660778	149461821	9676842	33	44161											
GPR20	2843	broad.mit.edu	37	chr8	142367698	142367698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccgtagtacacagcgaagCgcgtgggcagggacagccct	9	4	15	13	5	0	0	0	0	0	0	0	2	0	1	2	2	4	3	2	2	3	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr8:142367698C>T	ENST00000377741.3	-	2	416	c.326G>A	c.(325-327)cGc>cAc	p.R109H		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	109						integral to plasma membrane	G-protein coupled receptor activity	p.R109H(1)		NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CACAGCGAAGCGCGTGGGCAG	0.617													16	48					0	0	0	0	T	142367698	C	T	142367698	3	4	246	1	0	0	0	0	1	0	0	0	6729	768	27	1	754	1	GPR20	8	142367698	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08		142367698	3996324	34	44162											
CDKN2A	1029	broad.mit.edu	37	chr9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacatcgcgatggcccagctCctcagccaggtccacgggca	8	5	12	16	3	1	0	1	0	0	0	4	2	3	0	4	3	2	2	4	3	0	0			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	21					0.00829132	0.00891839	1	0	A	21971000	C	A	21971000	4	1	246	1	0	0	0	0	0	1	0	0	3190	864	30	2	120	2	CDKN2A	9	21971000	Nonsense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08		21971000	119242431	35	44163											
VPS13A	23230	broad.mit.edu	37	chr9	79930243	79930244	+	Frame_Shift_Ins	INS	-	-	T																															aggaaagtcagagatggttgINStgtgactgatgcggtctttc																										TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:79930243_79930244insT	ENST00000360280.3	+	38	4747_4748	c.4487_4488insT	c.(4486-4488)tgtfs	p.C1496fs	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Frame_Shift_Ins_p.C1457fs|VPS13A_ENST00000376634.4_Frame_Shift_Ins_p.C1496fs|VPS13A_ENST00000357409.5_Frame_Shift_Ins_p.C1496fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1496					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAGATGGTTGTGTGACTGATG	0.396													40	72	---	---	---	---					T	79930244	-	T	79930243	7	5	246	1	0	1	1	0	0	0	0	0	17285	1377	48	0	4637	0	VPS13A	9	79930243	Frame_Shift_Ins	INS	-	TCGA-CV-6436-01A-11D-1683-08	57959243	79930243	61283188	36	44164											
SLC28A3	64078	broad.mit.edu	37	chr9	86905135	86905135	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccggcggtcatgatggcGtggagttcagacttggtgat	8	10	15	8	3	2	3	2	2	0	1	2	4	2	4	1	5	1	1	1	5	1	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:86905135G>A	ENST00000376238.4	-	11	1132	c.1083C>T	c.(1081-1083)caC>caT	p.H361H	SLC28A3_ENST00000537648.1_Silent_p.H292H	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	361					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCATGATGGCGTGGAGTTCAG	0.463													12	50					0	0	0	0	A	86905135	G	A	86905135	2	1	246	1	0	0	0	0	0	0	0	1	14621	1136	40	1		1	SLC28A3	9	86905135	Silent	SNP	G	TCGA-CV-6436-01A-11D-1683-08	6974892	86905135	54308296	37	44165											
COL27A1	85301	broad.mit.edu	37	chr9	116930231	116930231	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcctgcagttcctcccCggcaagacggtcgtccacct	5	8	11	17	3	0	1	0	0	0	1	4	1	3	1	6	3	1	3	6	3	1	1			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:116930231C>T	ENST00000356083.3	+	3	787	c.396C>T	c.(394-396)ccC>ccT	p.P132P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	132	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AGTTCCTCCCCGGCAAGACGG	0.682													26	69					0	0	0	0	T	116930231	C	T	116930231	2	4	246	1	0	0	0	0	0	0	0	1	3715	639	23	1		1	COL27A1	9	116930231	Silent	SNP	C	TCGA-CV-6436-01A-11D-1683-08	30025096	116930231	24283200	38	44166											
TTF1	7270	broad.mit.edu	37	chr9	135277682	135277682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgctggctctcccaggatGcagctttcctctgatgcttt	4	13	9	15	1	2	1	0	1	2	0	4	2	3	2	3	2	3	5	3	2	0	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:135277682G>A	ENST00000334270.2	-	2	566	c.527C>T	c.(526-528)gCa>gTa	p.A176V		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	176	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	p.A176V(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTCCCAGGATGCAGCTTTCCT	0.493													16	31					0	0	0	0	A	135277682	G	A	135277682	3	1	246	1	0	0	0	0	1	0	0	0	16814	1319	46	4	2230	4	TTF1	9	135277682	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	18347451	135277682	5935749	39	44167											
RXRA	6256	broad.mit.edu	37	chr9	137328348	137328348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccgcctgccggctctgcGctccatcgggctcaaatgcc	4	8	11	18	4	2	0	1	0	1	0	5	0	4	0	5	2	3	4	5	2	1	0			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:137328348G>A	ENST00000540193.1	+	9	1909	c.986G>A	c.(985-987)cGc>cAc	p.R329H	RXRA_ENST00000481739.1_Missense_Mutation_p.R426H|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	426	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	p.R426H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCGGCTCTGCGCTCCATCGGG	0.612													27	71					0	0	0	0	A	137328348	G	A	137328348	3	1	246	1	0	0	0	0	1	0	0	0	13848	1087	38	1	1315	1	RXRA	9	137328348	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	2050666	137328348	3885083	40	44168											
MPP7	143098	broad.mit.edu	37	chr10	28413008	28413008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatcctccactggtatcccGttgacttccctaagttcatc	7	15	5	14	1	1	1	1	1	0	0	6	1	5	1	4	1	0	3	4	1	3	6			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr10:28413008G>A	ENST00000337532.5	-	9	843	c.567C>T	c.(565-567)aaC>aaT	p.N189N	MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375732.1_Silent_p.N189N|MPP7_ENST00000375719.3_Silent_p.N189N|MPP7_ENST00000445954.2_Silent_p.N64N|MPP7_ENST00000540098.1_Silent_p.N189N	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	189	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTGGTATCCCGTTGACTTCCC	0.358													8	78					0	0	0	0	A	28413008	G	A	28413008	2	1	246	1	0	0	0	0	0	0	0	1	9809	1136	40	1		1	MPP7	10	28413008	Silent	SNP	G	TCGA-CV-6436-01A-11D-1683-08		28413008	107121739	41	44169											
WDR11	55717	broad.mit.edu	37	chr10	122622272	122622272	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagcgagggtattgttttCatctcagacttctccccatc	8	13	7	13	1	3	1	2	0	2	1	6	2	3	1	3	1	1	2	3	1	1	5			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr10:122622272C>T	ENST00000263461.6	+	5	798	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	184						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTATTGTTTTCATCTCAGACT	0.418													39	133					0	0	0	0	T	122622272	C	T	122622272	2	4	246	1	0	0	0	0	0	0	0	1	17369	825	29	2		2	WDR11	10	122622272	Silent	SNP	C	TCGA-CV-6436-01A-11D-1683-08	94209264	122622272	12912475	42	44170											
HRAS	3265	broad.mit.edu	37	chr11	534288	534288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcactcttgcccacaccgCcggcgcccaccaccaccagc	7	3	8	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	1	7	1	0	1	rs104894230		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:534288C>T	ENST00000417302.1	-	2	222	c.35G>A	c.(34-36)gGc>gAc	p.G12D	HRAS_ENST00000451590.1_Missense_Mutation_p.G12D|HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12D	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			15	20					0	0	0	0	T	534288	C	T	534288	3	4	246	1	0	0	0	0	1	0	0	0	7398	739	26	4	617	4	HRAS	11	534288	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08		534288	134472228	43	44171											
ST5	6764	broad.mit.edu	37	chr11	8772184	8772184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacctgctcagagtcccccGaggggctttagtgccaccag	7	7	11	16	1	1	1	1	0	0	1	2	2	2	1	6	2	2	2	6	2	1	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:8772184G>A	ENST00000534127.1	-	5	449	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	ST5_ENST00000313726.6_Missense_Mutation_p.R22W|ST5_ENST00000530438.1_Missense_Mutation_p.R22W|ST5_ENST00000526757.1_Missense_Mutation_p.R22W|ST5_ENST00000357665.1_Missense_Mutation_p.R22W	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	22					positive regulation of ERK1 and ERK2 cascade		protein binding	p.R22W(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGAGTCCCCCGAGGGGCTTTA	0.552													117	191					0	0	0	0	A	8772184	G	A	8772184	3	1	246	1	0	0	0	0	1	0	0	0	15310	1057	37	1	3425	1	ST5	11	8772184	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	8237896	8772184	126234332	44	44172											
DKK3	27122	broad.mit.edu	37	chr11	11986065	11986065	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagccgcaggctccctcagCgccatctcttcagtcaggct	6	8	10	17	2	4	0	3	0	1	0	6	0	5	0	3	2	2	4	3	2	0	1			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:11986065C>T	ENST00000396505.2	-	8	1237	c.999G>A	c.(997-999)gcG>gcA	p.A333A	DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Silent_p.A333A|DKK3_ENST00000525493.1_Silent_p.A347A|DKK3_ENST00000450094.2_Silent_p.A305A	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	333					adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GCTCCCTCAGCGCCATCTCTT	0.577													15	118					0	0	0	0	T	11986065	C	T	11986065	2	4	246	1	0	0	0	0	0	0	0	1	4583	755	27	1		1	DKK3	11	11986065	Silent	SNP	C	TCGA-CV-6436-01A-11D-1683-08	3213881	11986065	123020451	45	44173											
AGBL2	79841	broad.mit.edu	37	chr11	47707594	47707594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacagaacctctctttcttCaagaagtctattgagggggc	11	11	9	10	0	4	3	1	1	3	2	5	3	4	3	1	2	2	0	1	2	5	4			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:47707594C>T	ENST00000525123.1	-	11	1924	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	AGBL2_ENST00000528244.1_Missense_Mutation_p.E509K|AGBL2_ENST00000357610.3_Missense_Mutation_p.E547K|AGBL2_ENST00000298861.4_Missense_Mutation_p.E547K|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	547					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TCTCTTTCTTCAAGAAGTCTA	0.383													14	38					0	0	0	0	T	47707594	C	T	47707594	3	4	246	1	0	0	0	0	1	0	0	0	376	835	29	2	1105	2	AGBL2	11	47707594	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	35721529	47707594	87298922	46	44174											
NUP160	23279	broad.mit.edu	37	chr11	47833636	47833636	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcatctccaagcctcattaAcagctgctgtaagatcaaaa	15	9	6	11	0	3	1	2	0	1	1	4	1	3	1	2	0	5	4	2	0	5	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:47833636A>G	ENST00000378460.2	-	17	2267	c.2221T>C	c.(2221-2223)Tta>Cta	p.L741L	NUP160_ENST00000530326.1_Silent_p.L627L|NUP160_ENST00000528071.1_Silent_p.L627L|NUP160_ENST00000528501.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	741					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AGCCTCATTAACAGCTGCTGT	0.433													5	42					0	0	0	0	G	47833636	A	G	47833636	2	3	246	1	0	0	0	0	0	0	0	1	10828	40	2	5		5	NUP160	11	47833636	Silent	SNP	A	TCGA-CV-6436-01A-11D-1683-08	126042	47833636	87172880	47	44175											
TRIM48	79097	broad.mit.edu	37	chr11	55032498	55032498	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttgcaggccctgtttctAcctcaactggcaagacatcc	8	12	7	14	0	2	1	1	0	1	1	3	1	3	1	3	2	3	3	3	2	3	4			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:55032498A>G	ENST00000417545.2	+	2	253	c.167A>G	c.(166-168)tAc>tGc	p.Y56C		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	40						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCCTGTTTCTACCTCAACTGG	0.458													23	96					0	0	0	0	G	55032498	A	G	55032498	3	3	246	1	0	0	0	0	1	0	0	0	16618	391	14	5	173	5	TRIM48	11	55032498	Missense_Mutation	SNP	A	TCGA-CV-6436-01A-11D-1683-08	7198862	55032498	79974018	48	44176											
OR4C15	81309	broad.mit.edu	37	chr11	55322467	55322467	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccccaatgtcatcaatCactttatgtgtgacttgtac	9	14	8	10	0	3	1	3	1	0	0	3	1	3	1	2	1	1	1	2	1	4	4			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:55322467C>A	ENST00000314644.2	+	1	685	c.685C>A	c.(685-687)Cac>Aac	p.H229N		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTCATCAATCACTTTATGTG	0.468										HNSCC(20;0.049)			11	33					3.86212e-05	4.22522e-05	1	0	A	55322467	C	A	55322467	3	1	246	1	0	0	0	0	1	0	0	0	11119	826	29	2	687	2	OR4C15	11	55322467	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	289969	55322467	79684049	49	44177											
SF1	7536	broad.mit.edu	37	chr11	64544069	64544069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgtgtcttggttccagcGgctcctcttccgcttcttac	3	16	8	14	2	3	0	0	0	3	0	6	0	6	0	3	2	2	3	3	2	1	6			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:64544069G>A	ENST00000377390.3	-	2	398	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	SF1_ENST00000227503.9_Missense_Mutation_p.R21C|SF1_ENST00000377394.3_Missense_Mutation_p.R21C|SF1_ENST00000433274.2_5'UTR|SF1_ENST00000334944.5_Missense_Mutation_p.R21C|SF1_ENST00000377387.1_Missense_Mutation_p.R146C|SF1_ENST00000422298.2_5'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	21					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA 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						TGGTTCCAGCGGCTCCTCTTC	0.428													8	68					0	0	0	0	A	64544069	G	A	64544069	3	1	246	1	0	0	0	0	1	0	0	0	14232	1116	39	1	2044	1	SF1	11	64544069	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	9221602	64544069	70462447	50	44178											
CNTN5	53942	broad.mit.edu	37	chr11	99690283	99690283	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctcttacagagtattcaAaatctcttcctggtctctcc	8	17	4	12	0	4	1	1	0	3	1	9	1	6	1	2	1	1	1	2	1	4	5			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:99690283A>G	ENST00000524871.1	+	4	354	c.64A>G	c.(64-66)Aaa>Gaa	p.K22E	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.K22E|CNTN5_ENST00000528682.1_Missense_Mutation_p.K22E|CNTN5_ENST00000527185.1_Missense_Mutation_p.K22E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	22					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGAGTATTCAAAATCTCTTCC	0.308													3	67					0	0	0	0	G	99690283	A	G	99690283	3	3	246	1	0	0	0	0	1	0	0	0	3674	15	1	5	70	5	CNTN5	11	99690283	Missense_Mutation	SNP	A	TCGA-CV-6436-01A-11D-1683-08	35146214	99690283	35316233	51	44179											
ETV6	2120	broad.mit.edu	37	chr12	12022544	12022544	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgcctctccccggctgagaGagctcagggacccaggccgc	6	4	13	18	3	2	2	1	1	1	1	3	4	2	3	6	3	1	2	6	3	0	0			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:12022544G>C	ENST00000396373.4	+	5	924	c.650G>C	c.(649-651)aGa>aCa	p.R217T		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	217						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R217T(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCGGCTGAGAGAGCTCAGGGA	0.632			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								18	95					0	0	0	0	C	12022544	G	C	12022544	3	2	246	1	0	0	0	0	1	0	0	0	5321	942	33	2	668	2	ETV6	12	12022544	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08		12022544	121829351	52	44180											
DENND5B	160518	broad.mit.edu	37	chr12	31613307	31613307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgccacagtcatcaggcGttgataatctgcacagaaca	12	10	8	11	1	4	2	2	1	2	1	4	2	4	2	1	1	3	2	1	1	2	3			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:31613307G>A	ENST00000389082.5	-	4	1177	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	DENND5B_ENST00000536562.1_Missense_Mutation_p.R340C|DENND5B_ENST00000306833.6_Missense_Mutation_p.R340C|DENND5B_ENST00000545147.1_5'UTR|DENND5B_ENST00000354285.4_Missense_Mutation_p.R327C	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	305	DENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTCATCAGGCGTTGATAATCT	0.393													7	28					0	0	0	0	A	31613307	G	A	31613307	3	1	246	1	0	0	0	0	1	0	0	0	4474	1145	40	1	2983	1	DENND5B	12	31613307	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	19590763	31613307	102238588	53	44181											
IKBIP	121457	broad.mit.edu	37	chr12	99007411	99007411	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatctttaatatccttaatCtcagcttggactattgttaa	11	18	4	8	0	3	0	2	0	2	0	5	1	4	1	1	1	1	2	1	1	5	8	rs142399666	by1000genomes	TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:99007411C>T	ENST00000342502.2	-	3	1416	c.1005G>A	c.(1003-1005)gaG>gaA	p.E335E	IKBIP_ENST00000420861.1_Silent_p.E229E|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	335					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TATCCTTAATCTCAGCTTGGA	0.308													10	56					0	0	0	0	T	99007411	C	T	99007411	2	4	246	1	0	0	0	0	0	0	0	1	7662	912	32	2		2	IKBIP	12	99007411	Silent	SNP	C	TCGA-CV-6436-01A-11D-1683-08	67394104	99007411	34844484	54	44182											
APPL2	55198	broad.mit.edu	37	chr12	105597508	105597508	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgtctgcaacggaggatAaaaagctgtccatacgtttg	12	10	10	9	2	1	0	0	0	1	0	2	2	2	2	2	2	4	3	2	2	5	3			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:105597508A>G	ENST00000258530.3	-	9	902	c.677T>C	c.(676-678)tTa>tCa	p.L226S	APPL2_ENST00000551662.1_Missense_Mutation_p.L232S|APPL2_ENST00000539978.2_Missense_Mutation_p.L183S|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	226	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	p.L226S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AACGGAGGATAAAAAGCTGTC	0.433													43	170					0	0	0	0	G	105597508	A	G	105597508	3	3	246	1	0	0	0	0	1	0	0	0	820	372	13	5	1369	5	APPL2	12	105597508	Missense_Mutation	SNP	A	TCGA-CV-6436-01A-11D-1683-08	6590097	105597508	28254387	55	44183											
ACAD10	80724	broad.mit.edu	37	chr12	112167625	112167625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggggactatattccacGccaggtacgaacctgggtta	10	8	12	11	3	0	0	0	0	0	0	1	2	1	1	3	4	2	3	3	4	5	5			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:112167625G>T	ENST00000455480.2	+	11	1529	c.1352G>T	c.(1351-1353)cGc>cTc	p.R451L	ACAD10_ENST00000549590.1_Missense_Mutation_p.R420L|ACAD10_ENST00000392636.2_Missense_Mutation_p.R22L|ACAD10_ENST00000313698.4_Missense_Mutation_p.R420L|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	420							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TATATTCCACGCCAGGTACGA	0.507													13	38					6.72482e-11	8.19788e-11	1	0	T	112167625	G	T	112167625	3	4	246	1	0	0	0	0	1	0	0	0	108	1087	38	3	1390	3	ACAD10	12	112167625	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	6570117	112167625	21684270	56	44184											
DDX54	79039	broad.mit.edu	37	chr12	113599136	113599136	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccggtcagatgccccttcTtcgtccgagtcacgatcatc	6	10	9	16	5	4	1	3	0	1	1	7	3	5	1	4	1	1	0	4	1	0	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:113599136T>G	ENST00000314045.7	-	19	2379	c.2352A>C	c.(2350-2352)gaA>gaC	p.E784D	DDX54_ENST00000306014.5_Missense_Mutation_p.E784D|DDX54_ENST00000549271.1_5'UTR	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	784					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATGCCCCTTCTTCGTCCGAGT	0.577													10	51					0	0	0	0	G	113599136	T	G	113599136	3	3	246	1	0	0	0	0	1	0	0	0	4404	1606	56	5	304	5	DDX54	12	113599136	Missense_Mutation	SNP	T	TCGA-CV-6436-01A-11D-1683-08	1431511	113599136	20252759	57	44185											
KSR2	283455	broad.mit.edu	37	chr12	117914339	117914339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcgggggacagctggcGgatgatctctggtgccaggt	5	10	18	8	2	1	1	0	1	1	0	3	3	1	3	1	6	2	1	1	6	0	0			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:117914339G>A	ENST00000425217.1	-	17	2479	c.2425C>T	c.(2425-2427)Cgc>Tgc	p.R809C	KSR2_ENST00000339824.5_Missense_Mutation_p.R838C|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	838	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACAGCTGGCGGATGATCTCT	0.582													7	7					0	0	0	0	A	117914339	G	A	117914339	3	1	246	1	0	0	0	0	1	0	0	0	8635	1116	39	1	356	1	KSR2	12	117914339	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	4315203	117914339	15937556	58	44186											
TDRD3	81550	broad.mit.edu	37	chr13	61084005	61084005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaagcagcactgaacgtaCttcttacaagcaataaacag	17	8	7	9	1	1	2	0	1	1	1	1	2	1	2	0	0	7	4	0	0	9	5			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr13:61084005C>G	ENST00000196169.3	+	9	1476	c.688C>G	c.(688-690)Ctt>Gtt	p.L230V	TDRD3_ENST00000377881.2_Missense_Mutation_p.L230V|TDRD3_ENST00000377894.2_Missense_Mutation_p.L230V|TDRD3_ENST00000535286.1_Missense_Mutation_p.L323V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	230	UBA.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.L230V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ACTGAACGTACTTCTTACAAG	0.408													18	76					0	0	0	0	G	61084005	C	G	61084005	3	3	246	1	0	0	0	0	1	0	0	0	15826	565	20	4	1001	4	TDRD3	13	61084005	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08		61084005	54085873	59	44187											
ADAM21	8747	broad.mit.edu	37	chr14	70924430	70924430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcggtttgggggccagaaaCacgttgttcatatgagggtc	8	11	15	7	2	1	2	1	1	0	1	2	2	1	2	1	4	2	3	1	4	2	4			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr14:70924430C>T	ENST00000603540.1	+	2	472	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.H72Y	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	72					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGGCCAGAAACACGTTGTTCA	0.527													15	109					0	0	0	0	T	70924430	C	T	70924430	3	4	246	1	0	0	0	0	1	0	0	0	243	478	17	4	216	4	ADAM21	14	70924430	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08		70924430	36425110	60	44188											
LGMN	5641	broad.mit.edu	37	chr14	93172970	93172970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaaggagacgatcttaCgcactgacttctcaatgagg	12	8	10	11	2	2	3	1	2	2	1	3	5	2	3	1	2	2	2	1	2	3	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr14:93172970C>T	ENST00000393218.2	-	13	1386	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	LGMN_ENST00000334869.4_Missense_Mutation_p.R350H|LGMN_ENST00000555699.1_Intron|LGMN_ENST00000557434.1_Intron	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	350					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GACGATCTTACGCACTGACTT	0.637													13	32					0	0	0	0	T	93172970	C	T	93172970	3	4	246	1	0	0	0	0	1	0	0	0	8809	536	19	1	264	1	LGMN	14	93172970	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	22248540	93172970	14176570	61	44189											
PPP4R4	57718	broad.mit.edu	37	chr14	94674875	94674875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacagaatcccactgagaCgcttcggagagtgttgccaa	11	7	12	11	3	0	3	0	1	0	3	2	6	1	3	2	1	1	2	2	1	2	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr14:94674875C>T	ENST00000304338.3	+	3	420	c.266C>T	c.(265-267)aCg>aTg	p.T89M	PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M|PPP4R4_ENST00000555690.1_3'UTR	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	89						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.T89M(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCCACTGAGACGCTTCGGAGA	0.388													4	10					0	0	0	0	T	94674875	C	T	94674875	3	4	246	1	0	0	0	0	1	0	0	0	12481	536	19	1	276	1	PPP4R4	14	94674875	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	1501905	94674875	12674665	62	44190											
ATP10A	57194	broad.mit.edu	37	chr15	25961901	25961901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgtggctgatccggggaCgtgacgacgactgtgttgca	6	10	16	9	5	0	2	0	2	0	0	2	5	1	3	1	3	1	4	1	3	0	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr15:25961901C>T	ENST00000356865.6	-	9	1863	c.1752G>A	c.(1750-1752)acG>acA	p.T584T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	584					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GATCCGGGGACGTGACGACGA	0.592													13	86					0	0	0	0	T	25961901	C	T	25961901	2	4	246	1	0	0	0	0	0	0	0	1	1120	523	19	1		1	ATP10A	15	25961901	Silent	SNP	C	TCGA-CV-6436-01A-11D-1683-08		25961901	76569491	63	44191											
ISLR2	57611	broad.mit.edu	37	chr15	74425583	74425583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccggctgcgtacgctggCgcctggcaccttcgacgcgc	5	6	13	17	7	0	0	0	0	0	0	1	1	0	0	3	3	3	4	3	3	2	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr15:74425583C>T	ENST00000361742.3	+	4	1257	c.488C>T	c.(487-489)gCg>gTg	p.A163V	ISLR2_ENST00000453268.2_Missense_Mutation_p.A163V|ISLR2_ENST00000435464.1_Missense_Mutation_p.A163V|ISLR2_ENST00000419208.1_Missense_Mutation_p.A163V|ISLR2_ENST00000565540.1_Missense_Mutation_p.A163V|ISLR2_ENST00000445793.1_Missense_Mutation_p.A163V|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.A163V	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	163					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CGTACGCTGGCGCCTGGCACC	0.652													22	95					0	0	0	0	T	74425583	C	T	74425583	3	4	246	1	0	0	0	0	1	0	0	0	7912	768	27	1	490	1	ISLR2	15	74425583	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	48463682	74425583	28105809	64	44192											
AP3B2	8120	broad.mit.edu	37	chr15	83331629	83331629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcccctcgccagctacccGgtgcagcagctcctgccgcc	5	5	10	21	3	0	0	0	0	0	0	2	0	1	0	7	1	7	4	7	1	1	1			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr15:83331629G>A	ENST00000261722.3	-	22	2800	c.2593C>T	c.(2593-2595)Cgg>Tgg	p.R865W	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.R833W|AP3B2_ENST00000535359.1_Missense_Mutation_p.R884W	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	865					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCAGCTACCCGGTGCAGCAGC	0.607													5	24					0	0	0	0	A	83331629	G	A	83331629	3	1	246	1	0	0	0	0	1	0	0	0	746	1115	39	1	675	1	AP3B2	15	83331629	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	8906046	83331629	19199763	65	44193											
HS3ST6	64711	broad.mit.edu	37	chr16	1961723	1961737	+	In_Frame_Del	DEL	GCGGGGACGGCTGCC	GCGGGGACGGCTGCC	-																															cccttggacttgcccaggcaGcggggacggctgccgccctg																								rs79686696	by1000genomes	TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:1961723_1961737delGCGGGGACGGCTGCC	ENST00000454677.2	-	2	999_1013	c.934_948delGGCAGCCGTCCCCGC	c.(934-948)del	p.GSRPR312del	HS3ST6_ENST00000443547.1_In_Frame_Del_p.GSRPR264del|HS3ST6_ENST00000293937.3_In_Frame_Del_p.GSRPR295del			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	264										endometrium(2)|lung(2)	4						TGCCCAGGCAGCGGGGACGGCTGCCGCCCTGGGCC	0.679													9	23	---	---	---	---					-	1961737	GCGGGGACGGCTGCC	-	1961723	7	5	246	1	0	1	0	1	0	0	0	0	7419	958	34	0	135	0	HS3ST6	16	1961723	In_Frame_Del	DEL	GCGGGGACGGCTGCC	TCGA-CV-6436-01A-11D-1683-08		1961723	88393030	66	44194											
GRIN2A	2903	broad.mit.edu	37	chr16	10032166	10032166	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagaagagtggatcttcttCagctggacttgtgtctttgc	8	14	11	8	0	4	2	1	0	3	2	4	4	4	4	0	2	2	1	0	2	1	4			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:10032166C>T	ENST00000396573.2	-	4	966	c.657G>A	c.(655-657)ctG>ctA	p.L219L	GRIN2A_ENST00000562109.1_Silent_p.L219L|GRIN2A_ENST00000396575.2_Silent_p.L219L|GRIN2A_ENST00000330684.3_Silent_p.L219L|GRIN2A_ENST00000535259.1_Silent_p.L62L|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Silent_p.L219L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	219					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATCTTCTTCAGCTGGACTT	0.507													8	49					0	0	0	0	T	10032166	C	T	10032166	2	4	246	1	0	0	0	0	0	0	0	1	6829	813	29	2		2	GRIN2A	16	10032166	Silent	SNP	C	TCGA-CV-6436-01A-11D-1683-08	8070443	10032166	80322587	67	44195											
PDILT	204474	broad.mit.edu	37	chr16	20410538	20410538	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggttatgtggatgctggAaacaccggcgttaacctctg	8	12	12	9	2	1	0	0	0	1	0	1	2	1	2	2	4	3	3	2	4	3	3			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:20410538A>G	ENST00000302451.4	-	2	333	c.85T>C	c.(85-87)Tcc>Ccc	p.S29P		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	29					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGGATGCTGGAAACACCGGCG	0.602													25	109					0	0	0	0	G	20410538	A	G	20410538	3	3	246	1	0	0	0	0	1	0	0	0	11745	246	9	5	1713	5	PDILT	16	20410538	Missense_Mutation	SNP	A	TCGA-CV-6436-01A-11D-1683-08	10378372	20410538	69944215	68	44196											
C16orf78	123970	broad.mit.edu	37	chr16	49430551	49430551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaacctaagatggaaacCatgaggatgttgaagccaga	16	6	11	8	1	0	4	0	2	0	2	0	7	0	6	4	2	3	1	4	2	4	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:49430551C>T	ENST00000299191.3	+	4	729	c.612C>T	c.(610-612)acC>acT	p.T204T		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	204										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AGATGGAAACCATGAGGATGT	0.542													5	28					0	0	0	0	T	49430551	C	T	49430551	2	4	246	1	0	0	0	0	0	0	0	1	1848	581	21	4		4	C16orf78	16	49430551	Silent	SNP	C	TCGA-CV-6436-01A-11D-1683-08	29020013	49430551	40924202	69	44197											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	25					0	0	0	0	T	7577120	C	T	7577120	3	4	246	1	0	0	0	0	1	0	0	0	16476	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08		7577120	73618090	70	44198											
DNAH2	146754	broad.mit.edu	37	chr17	7673916	7673916	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgggatgtgactcagctCgacatagtaccctacaagga	12	8	10	11	1	1	1	1	1	0	0	2	4	1	3	2	2	3	2	2	2	4	3			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:7673916C>T	ENST00000572933.1	+	26	5600	c.4140C>T	c.(4138-4140)ctC>ctT	p.L1380L	DNAH2_ENST00000389173.2_Silent_p.L1380L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1380	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGACTCAGCTCGACATAGTAC	0.542													13	53					0	0	0	0	T	7673916	C	T	7673916	2	4	246	1	0	0	0	0	0	0	0	1	4639	871	31	1		1	DNAH2	17	7673916	Silent	SNP	C	TCGA-CV-6436-01A-11D-1683-08	96796	7673916	73521294	71	44199											
FAM134C	162427	broad.mit.edu	37	chr17	40735595	40735595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtggagagctctgcggCgtactgtgggaagagcacaa	9	7	17	8	2	1	2	0	0	1	2	1	4	1	3	0	4	4	3	0	4	3	1			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:40735595C>T	ENST00000309428.5	-	7	790	c.731G>A	c.(730-732)cGc>cAc	p.R244H	FAM134C_ENST00000585894.1_Missense_Mutation_p.R147H|FAM134C_ENST00000543197.1_Missense_Mutation_p.R49H	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	244						integral to membrane		p.R244H(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		AGCTCTGCGGCGTACTGTGGG	0.498													10	27					0	0	0	0	T	40735595	C	T	40735595	3	4	246	1	0	0	0	0	1	0	0	0	5488	768	27	1	681	1	FAM134C	17	40735595	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	33061679	40735595	40459615	72	44200											
CBX4	8535	broad.mit.edu	37	chr17	77807811	77807811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcagttcgcggtgacgtCggtgataattatattcccaa	10	11	12	8	4	0	2	0	2	0	0	3	3	1	2	1	3	0	2	1	3	4	5			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:77807811C>T	ENST00000269397.4	-	5	1807	c.1630G>A	c.(1630-1632)Gac>Aac	p.D544N		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	544	Interaction with RNF2.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCGGTGACGTCGGTGATAATT	0.627													22	65					0	0	0	0	T	77807811	C	T	77807811	3	4	246	1	0	0	0	0	1	0	0	0	2745	884	31	1	56	1	CBX4	17	77807811	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	37072216	77807811	3387399	73	44201											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260048	44260048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgcacgcggaggatgcctCggctgtgcaagtgcaggaag	8	7	17	9	3	0	0	0	0	0	0	1	3	0	3	1	4	4	4	1	4	2	0			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr18:44260048C>T	ENST00000315087.7	-	7	1748	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R332Q|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R399Q	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	363					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		p.R363Q(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GAGGATGCCTCGGCTGTGCAA	0.647													17	55					0	0	0	0	T	44260048	C	T	44260048	3	4	246	1	0	0	0	0	1	0	0	0	15325	884	31	1	46	1	ST8SIA5	18	44260048	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08		44260048	33817200	74	44202											
OAZ1	4946	broad.mit.edu	37	chr19	2271954	2271954	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccgaggggagcaaggacagGtgaggggcaaggacaggcag	12	1	20	8	1	0	1	0	1	0	0	0	5	0	4	1	8	1	3	1	8	2	0			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:2271954G>A	ENST00000583542.3	+	4	543		c.e4+1		OAZ1_ENST00000582888.3_Splice_Site|OAZ1_ENST00000602676.1_Splice_Site|OAZ1_ENST00000322297.4_Splice_Site|OAZ1_ENST00000592727.1_Splice_Site			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1						polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity			endometrium(1)|lung(2)	3		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)	L-Ornithine(DB00129)	GCAAGGACAGGTGAGGGGCAA	0.667													5	12					0	0	0	0	A	2271954	G	A	2271954	5	1	246	1	0	0	0	0	0	0	1	0	10875	1275	44	4	476	4	OAZ1	19	2271954	Splice_Site	SNP	G	TCGA-CV-6436-01A-11D-1683-08		2271954	56857029	75	44203											
MUC16	94025	broad.mit.edu	37	chr19	9000504	9000504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccagggtgatgcatgttctCctcataccgcaggttagtga	8	11	12	10	1	2	2	1	2	1	0	3	2	2	2	3	2	2	4	3	2	2	3			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:9000504C>T	ENST00000397910.4	-	54	40683	c.40480G>A	c.(40480-40482)Gag>Aag	p.E13494K	MUC16_ENST00000380951.5_Missense_Mutation_p.E135K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13496	SEA 10.				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						TGCATGTTCTCCTCATACCGC	0.478													11	48					0	0	0	0	T	9000504	C	T	9000504	3	4	246	1	0	0	0	0	1	0	0	0	10043	864	30	2	3167	2	MUC16	19	9000504	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	6728550	9000504	50128479	76	44204											
CYP4F3	4051	broad.mit.edu	37	chr19	15769113	15769113	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccttcctgaccatgtgcatTaaggagagcctgaggctgca	9	9	11	12	0	0	3	0	2	0	1	1	4	1	3	4	2	3	3	4	2	1	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:15769113T>C	ENST00000221307.7	+	10	1203	c.1155T>C	c.(1153-1155)atT>atC	p.I385I	CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000591058.1_Silent_p.I385I|CYP4F3_ENST00000585846.1_Silent_p.I385I|CYP4F3_ENST00000586182.1_Silent_p.I385I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	385					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCATGTGCATTAAGGAGAGCC	0.597													4	102					0	0	0	0	C	15769113	T	C	15769113	2	2	246	1	0	0	0	0	0	0	0	1	4222	1742	61	5		5	CYP4F3	19	15769113	Silent	SNP	T	TCGA-CV-6436-01A-11D-1683-08	6768609	15769113	43359870	77	44205											
ZNF529	57711	broad.mit.edu	37	chr19	37039185	37039185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgttttgaataatatcttttCctacagataaatgcttagtc	12	18	5	6	0	1	2	0	1	1	1	3	2	2	2	1	0	2	2	1	0	7	9			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:37039185C>T	ENST00000591340.1	-	5	433	c.275G>A	c.(274-276)gGa>gAa	p.G92E	ZNF529_ENST00000334116.7_5'UTR	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					AATATCTTTTCCTACAGATAA	0.343													4	15					0	0	0	0	T	37039185	C	T	37039185	3	4	246	1	0	0	0	0	1	0	0	0	18065	855	30	2	1420	2	ZNF529	19	37039185	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	21270072	37039185	22089798	78	44206											
DYRK1B	9149	broad.mit.edu	37	chr19	40321135	40321137	+	In_Frame_Del	DEL	CTC	CTC	-																															ccatggttcaggaccttcttCtccttcttgttgctcgaatc																										TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:40321135_40321137delCTC	ENST00000593685.1	-	4	718_720	c.250_252delGAG	c.(250-252)del	p.E84del	DYRK1B_ENST00000430012.2_In_Frame_Del_p.E84del|DYRK1B_ENST00000597639.1_In_Frame_Del_p.E84del|DYRK1B_ENST00000348817.3_In_Frame_Del_p.E84del|DYRK1B_ENST00000323039.5_In_Frame_Del_p.E84del|DYRK1B_ENST00000601972.1_In_Frame_Del_p.E84del			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	84					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GGACCTTCTTCTCCTTCTTGTTG	0.581													22	82	---	---	---	---					-	40321137	CTC	-	40321135	7	5	246	1	0	1	0	1	0	0	0	0	4891	912	32	0	1669	0	DYRK1B	19	40321135	In_Frame_Del	DEL	CTC	TCGA-CV-6436-01A-11D-1683-08	3281950	40321135	18807848	79	44207											
CCDC8	83987	broad.mit.edu	37	chr19	46914919	46914919	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctgcagcctcttccctGtggttatctgtgccctgtga	4	16	9	12	0	3	1	0	1	3	0	4	1	4	1	3	1	3	2	3	1	2	3			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:46914919G>C	ENST00000307522.3	-	1	1922	c.1149C>G	c.(1147-1149)caC>caG	p.H383Q		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	383			H -> Y (in dbSNP:rs34186470).			plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CCTCTTCCCTGTGGTTATCTG	0.582													42	136					0	0	0	0	C	46914919	G	C	46914919	3	2	246	1	0	0	0	0	1	0	0	0	2880	1368	48	4	471	4	CCDC8	19	46914919	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	6593784	46914919	12214064	80	44208											
ZNF614	80110	broad.mit.edu	37	chr19	52519599	52519599	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcctgtatgagttcgctGatgtataacgagagtgcgtt	8	14	11	8	3	1	3	0	2	1	1	3	4	1	3	1	0	2	5	1	0	3	5			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:52519599G>A	ENST00000270649.6	-	5	1796	c.1252C>T	c.(1252-1254)Cag>Tag	p.Q418*	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q418*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGAGTTCGCTGATGTATAACG	0.423													38	144					0	0	0	0	A	52519599	G	A	52519599	4	1	246	1	0	0	0	0	0	1	0	0	18134	1299	45	2	509	2	ZNF614	19	52519599	Nonsense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08	5604680	52519599	6609384	81	44209											
PTPRA	5786	broad.mit.edu	37	chr20	2969023	2969023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggccagatccccaagcaCcaacaggaaatacccacccc	13	4	6	18	0	1	1	0	0	1	1	2	2	2	2	7	2	3	1	7	2	4	1			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr20:2969023C>T	ENST00000216877.6	+	8	1014	c.614C>T	c.(613-615)aCc>aTc	p.T205I	PTPRA_ENST00000399903.2_Missense_Mutation_p.T214I|PTPRA_ENST00000358719.4_Missense_Mutation_p.T70I|PTPRA_ENST00000356147.3_Missense_Mutation_p.T205I|PTPRA_ENST00000380393.3_Missense_Mutation_p.T214I|PTPRA_ENST00000425918.2_Missense_Mutation_p.T225I|PTPRA_ENST00000318266.5_Missense_Mutation_p.T205I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	214					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.T214I(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCCCCAAGCACCAACAGGAAA	0.547													15	56					0	0	0	0	T	2969023	C	T	2969023	3	4	246	1	0	0	0	0	1	0	0	0	12877	507	18	4	663	4	PTPRA	20	2969023	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08		2969023	60056497	82	44210											
DIDO1	11083	broad.mit.edu	37	chr20	61511734	61511734	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccgtcacctcgttatacggGgcgtcctggaactccctctt	5	11	9	16	4	2	0	1	0	1	0	5	1	4	1	4	3	2	1	4	3	3	3			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr20:61511734G>A	ENST00000266070.4	-	16	5899	c.5574C>T	c.(5572-5574)gcC>gcT	p.A1858A	DIDO1_ENST00000395343.1_Silent_p.A1858A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1858	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTTATACGGGGCGTCCTGGA	0.622													20	79					0	0	0	0	A	61511734	G	A	61511734	2	1	246	1	0	0	0	0	0	0	0	1	4559	1219	43	4		4	DIDO1	20	61511734	Silent	SNP	G	TCGA-CV-6436-01A-11D-1683-08	58542711	61511734	1513786	83	44211											
ARVCF	421	broad.mit.edu	37	chr22	19960526	19960526	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacactgtctgcagcacGtgtgacgccgccttcgcttc	5	10	9	17	4	1	1	0	1	1	0	4	1	2	1	3	0	2	3	3	0	0	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:19960526G>A	ENST00000263207.3	-	15	2763	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	ARVCF_ENST00000344269.3_Silent_p.H761H|ARVCF_ENST00000401994.1_Silent_p.H761H|ARVCF_ENST00000406522.1_Silent_p.H755H|ARVCF_ENST00000406259.1_Silent_p.H818H	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	824					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCTGCAGCACGTGTGACGCCG	0.672													27	65					0	0	0	0	A	19960526	G	A	19960526	2	1	246	1	0	0	0	0	0	0	0	1	1007	1136	40	1		1	ARVCF	22	19960526	Silent	SNP	G	TCGA-CV-6436-01A-11D-1683-08		19960526	31344040	84	44212											
SLC5A4	6527	broad.mit.edu	37	chr22	32614659	32614659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggtcccttctgcaaacCgcagaacaagtcataagctt	11	10	8	12	1	2	1	1	0	1	1	3	1	3	1	2	1	4	3	2	1	4	4	rs150790454		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:32614659C>T	ENST00000266086.4	-	15	1833	c.1822G>A	c.(1822-1824)Ggt>Agt	p.G608S	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	608					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTGCAAACCGCAGAACAAG	0.468													9	59					0	0	0	0	T	32614659	C	T	32614659	3	4	246	1	0	0	0	0	1	0	0	0	14755	652	23	1	161	1	SLC5A4	22	32614659	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	12654133	32614659	18689907	85	44213											
TRIOBP	11078	broad.mit.edu	37	chr22	38121554	38121554	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcctcacctgtgtacccCgctgcctatggggctcccct	4	11	8	18	1	1	0	1	0	0	0	3	0	3	0	7	2	2	3	7	2	2	3			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:38121554C>T	ENST00000406386.3	+	7	3246	c.2991C>T	c.(2989-2991)ccC>ccT	p.P997P	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	997					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					CTGTGTACCCCGCTGCCTATG	0.652													25	124					0	0	0	0	T	38121554	C	T	38121554	2	4	246	1	0	0	0	0	0	0	0	1	16648	639	23	1		1	TRIOBP	22	38121554	Silent	SNP	C	TCGA-CV-6436-01A-11D-1683-08	5506895	38121554	13183012	86	44214											
ZC3H7B	23264	broad.mit.edu	37	chr22	41753277	41753277	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggaccggcgcgaggtgctGaagcagaagttggccaaggc	9	5	17	10	3	0	2	0	1	0	1	0	4	0	3	2	5	2	3	2	5	3	1			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:41753277G>C	ENST00000352645.4	+	23	3035	c.2778G>C	c.(2776-2778)ctG>ctC	p.L926L	ZC3H7B_ENST00000351589.4_Silent_p.L926L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	942					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GCGAGGTGCTGAAGCAGAAGT	0.617													13	88					0	0	0	0	C	41753277	G	C	41753277	2	2	246	1	0	0	0	0	0	0	0	1	17668	1277	45	2		2	ZC3H7B	22	41753277	Silent	SNP	G	TCGA-CV-6436-01A-11D-1683-08	3631723	41753277	9551289	87	44215											
MAGT1	84061	broad.mit.edu	37	chrX	77126359	77126359	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatggcaaaaaatatcctGttggtgaatgcactggagta	14	10	10	7	0	0	1	0	1	0	0	1	2	1	2	2	3	1	4	2	3	6	3			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chrX:77126359G>C	ENST00000358075.6	-	3	518	c.432C>G	c.(430-432)aaC>aaG	p.N144K	MAGT1_ENST00000373336.3_Missense_Mutation_p.N112K	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	112					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.N112K(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AAAATATCCTGTTGGTGAATG	0.363													15	26					0	0	0	0	C	77126359	G	C	77126359	3	2	246	1	0	0	0	0	1	0	0	0	9265	1368	48	4	703	4	MAGT1	23	77126359	Missense_Mutation	SNP	G	TCGA-CV-6436-01A-11D-1683-08		77126359	78144201	88	44216											
WDR44	54521	broad.mit.edu	37	chrX	117575441	117575441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatggtcagacaaaattgatCacagctgcaaatttctgtca	14	11	8	8	0	4	2	3	1	1	1	4	3	4	2	0	1	2	2	0	1	3	2			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chrX:117575441C>G	ENST00000254029.3	+	15	2480	c.2085C>G	c.(2083-2085)atC>atG	p.I695M	WDR44_ENST00000371822.5_Intron|WDR44_ENST00000371825.3_Missense_Mutation_p.I695M	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	695						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		p.I695M(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CAAAATTGATCACAGCTGCAA	0.378													26	31					0	0	0	0	G	117575441	C	G	117575441	3	3	246	1	0	0	0	0	1	0	0	0	17392	816	29	2	2143	2	WDR44	23	117575441	Missense_Mutation	SNP	C	TCGA-CV-6436-01A-11D-1683-08	40449082	117575441	37695119	89	44217											
NPHP4	261734	broad.mit.edu	37	chr1	5993234	5993237	+	Frame_Shift_Del	DEL	TACC	TACC	-																															gagctcatgctggctgagggTaccttgtagaccagacagtg																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:5993234_5993237delTACC	ENST00000378156.4	-	10	1537_1540	c.1272_1275delGGTA	c.(1270-1275)aafs	p.KV424fs	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	424					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTGAGGGTACCTTGTAGACCA	0.5													23	74	---	---	---	---					-	5993237	TACC	-	5993234	7	5	247	1	0	1	0	1	0	0	0	0	10651	1625	57	0	3089	0	NPHP4	1	5993234	Frame_Shift_Del	DEL	TACC	TCGA-CV-6441-01A-11D-1683-08		5993234	243257387	1	44218											
PHF13	148479	broad.mit.edu	37	chr1	6680226	6680226	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcccagcgacccctgcTcgggctgggactccgatact	6	7	12	16	3	0	0	0	0	0	0	3	3	2	1	4	3	3	3	4	3	1	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:6680226T>G	ENST00000377648.4	+	3	887	c.505T>G	c.(505-507)Tcg>Gcg	p.S169A	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	169					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		CGACCCCTGCTCGGGCTGGGA	0.597													16	31					0	0	0	0	G	6680226	T	G	6680226	3	3	247	1	0	0	0	0	1	0	0	0	11896	1551	54	5	515	5	PHF13	1	6680226	Missense_Mutation	SNP	T	TCGA-CV-6441-01A-11D-1683-08	686992	6680226	242570395	2	44219											
RHD	6007	broad.mit.edu	37	chr1	25611200	25611200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgggcaatcctgctggaCggcttcctgagccagttccc	6	9	12	14	1	0	1	0	1	0	0	3	2	3	2	4	3	2	4	4	3	1	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:25611200C>T	ENST00000328664.4	+	2	440	c.285C>T	c.(283-285)gaC>gaT	p.D95D	RHD_ENST00000568195.1_Silent_p.D95D|RHD_ENST00000417538.2_Silent_p.D95D|RHD_ENST00000454452.2_Silent_p.D95D|RHD_ENST00000357542.4_Silent_p.D95D|RHD_ENST00000423810.2_Silent_p.D95D|RHD_ENST00000342055.5_Silent_p.D95D|RHD_ENST00000423253.1_3'UTR	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN	Rh blood group, D antigen	95						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCTGCTGGACGGCTTCCTGA	0.572													5	53					0	0	0	0	T	25611200	C	T	25611200	2	4	247	1	0	0	0	0	0	0	0	1	13410	535	19	1		1	RHD	1	25611200	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	18930974	25611200	223639421	3	44220											
DCDC2B	149069	broad.mit.edu	37	chr1	32677785	32677785	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgagaaggtcaagttgcaGagtggggctgtgtgcaagtg	10	9	17	5	0	1	2	1	1	0	2	1	3	1	2	0	3	2	4	0	3	3	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:32677785G>C	ENST00000409358.1	+	4	510	c.510G>C	c.(508-510)caG>caC	p.Q170H		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	170	Doublecortin 2.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCAAGTTGCAGAGTGGGGCTG	0.577													8	87					0	0	0	0	C	32677785	G	C	32677785	3	2	247	1	0	0	0	0	1	0	0	0	4318	933	33	2	524	2	DCDC2B	1	32677785	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	7066585	32677785	216572836	4	44221											
HEYL	26508	broad.mit.edu	37	chr1	40092678	40092678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagggccagtgggcgtgggcGaaggctccatctcggctgcg	6	6	18	11	4	1	0	0	0	1	0	3	1	2	0	2	5	1	2	2	5	2	0	rs139668981	byFrequency	TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:40092678G>A	ENST00000372852.3	-	5	807	c.488C>T	c.(487-489)tCg>tTg	p.S163L	HEYL_ENST00000535435.1_Missense_Mutation_p.S135L	NM_014571.3	NP_055386.1	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	163	Pro-rich.				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGCGTGGGCGAAGGCTCCAT	0.652													15	36					0	0	0	0	A	40092678	G	A	40092678	3	1	247	1	0	0	0	0	1	0	0	0	7130	1059	37	1	502	1	HEYL	1	40092678	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	7414893	40092678	209157943	5	44222											
RLF	6018	broad.mit.edu	37	chr1	40701683	40701683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaactatatttgcaaccaGatcaaaaatttgatgaagaa	20	10	6	5	0	1	5	1	2	0	3	1	5	1	5	1	0	3	1	1	0	9	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:40701683G>C	ENST00000372771.4	+	8	1336	c.1309G>C	c.(1309-1311)Gat>Cat	p.D437H		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	437					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTTGCAACCAGATCAAAAATT	0.368													23	111					0	0	0	0	C	40701683	G	C	40701683	3	2	247	1	0	0	0	0	1	0	0	0	13474	942	33	2	1339	2	RLF	1	40701683	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	609005	40701683	208548938	6	44223											
AK5	26289	broad.mit.edu	37	chr1	77752661	77752661	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatgtgttctaagcccgaAgatccagtagaatacttgga	12	11	10	8	1	1	3	0	1	1	2	2	5	2	4	2	1	2	2	2	1	5	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:77752661A>C	ENST00000344720.5	+	2	1044	c.18A>C	c.(16-18)gaA>gaC	p.E6D	AK5_ENST00000354567.2_Missense_Mutation_p.E32D|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	32					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CTAAGCCCGAAGATCCAGTAG	0.338													34	44					0	0	0	0	C	77752661	A	C	77752661	3	2	247	1	0	0	0	0	1	0	0	0	443	69	3	5	102	5	AK5	1	77752661	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	37050978	77752661	171497960	7	44224											
SYDE2	84144	broad.mit.edu	37	chr1	85630216	85630216	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaatcatttacctggccaGagttggagtaagtaatgaag	14	11	11	5	0	1	3	1	1	0	2	1	4	1	4	2	2	1	3	2	2	6	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:85630216G>A	ENST00000341460.5	-	6	3127	c.3078C>T	c.(3076-3078)ctC>ctT	p.L1026L		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1026	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TACCTGGCCAGAGTTGGAGTA	0.318													5	11					0	0	0	0	A	85630216	G	A	85630216	2	1	247	1	0	0	0	0	0	0	0	1	15527	929	33	2		2	SYDE2	1	85630216	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	7877555	85630216	163620405	8	44225											
HFM1	164045	broad.mit.edu	37	chr1	91861862	91861862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatttacctaacagtttatGactttctaattcttcctcta	11	19	2	9	0	3	1	0	1	3	0	4	1	4	1	2	0	2	1	2	0	6	11			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:91861862G>A	ENST00000370425.3	-	3	270	c.172C>T	c.(172-174)Cat>Tat	p.H58Y	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	58							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AACAGTTTATGACTTTCTAAT	0.348													7	26					0	0	0	0	A	91861862	G	A	91861862	3	1	247	1	0	0	0	0	1	0	0	0	7133	1290	45	2	4283	2	HFM1	1	91861862	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	6231646	91861862	157388759	9	44226											
COL11A1	1301	broad.mit.edu	37	chr1	103480096	103480096	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaagaatagcttgagcctGagcttcctgagcagagatgg	11	9	13	8	0	0	6	0	4	0	2	1	7	1	6	2	1	4	3	2	1	3	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:103480096G>A	ENST00000358392.2	-	13	1896	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q399*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Q515*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q476*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	515	Telopeptide.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTTGAGCCTGAGCTTCCTGA	0.418													7	33					0	0	0	0	A	103480096	G	A	103480096	4	1	247	1	0	0	0	0	0	1	0	0	3697	1299	45	2	4097	2	COL11A1	1	103480096	Nonsense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	11618234	103480096	145770525	10	44227											
NTNG1	22854	broad.mit.edu	37	chr1	107691398	107691398	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggacatgacaaaatatctGaaagtgaaactcgatcctcc	16	8	7	10	2	1	3	0	3	1	0	4	5	3	4	2	1	1	0	2	1	5	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:107691398G>A	ENST00000370067.1	+	2	810	c.183G>A	c.(181-183)ctG>ctA	p.L61L	NTNG1_ENST00000370071.2_Silent_p.L61L|NTNG1_ENST00000370065.1_Silent_p.L61L|NTNG1_ENST00000370066.1_Silent_p.L61L|NTNG1_ENST00000370068.1_Silent_p.L61L|NTNG1_ENST00000370061.3_Silent_p.L61L|NTNG1_ENST00000370070.2_Silent_p.L61L|NTNG1_ENST00000370072.3_Silent_p.L61L|NTNG1_ENST00000370073.2_Silent_p.L61L|NTNG1_ENST00000370074.4_Silent_p.L61L|NTNG1_ENST00000542803.1_Silent_p.L61L			Q9Y2I2	NTNG1_HUMAN	netrin G1	61	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CAAAATATCTGAAAGTGAAAC	0.423													21	96					0	0	0	0	A	107691398	G	A	107691398	2	1	247	1	0	0	0	0	0	0	0	1	10775	1277	45	2		2	NTNG1	1	107691398	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	4211302	107691398	141559223	11	44228											
GPR61	83873	broad.mit.edu	37	chr1	110086037	110086037	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtcagcctggccatcctCtcggtgtcagccatcaatgt	6	13	9	13	1	4	0	3	0	1	0	6	0	5	0	4	2	2	0	4	2	1	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:110086037C>G	ENST00000527748.1	+	2	1076	c.393C>G	c.(391-393)ctC>ctG	p.L131L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	131						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGCCATCCTCTCGGTGTCAG	0.607													22	92					0	0	0	0	G	110086037	C	G	110086037	2	3	247	1	0	0	0	0	0	0	0	1	6751	900	32	2		2	GPR61	1	110086037	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	2394639	110086037	139164584	12	44229											
SPAG17	200162	broad.mit.edu	37	chr1	118693935	118693935	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacggtaagggcttggatgaGaagatcatcttcaatctggt	11	11	12	7	1	4	2	2	1	2	2	4	4	4	3	0	4	0	2	0	4	3	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:118693935G>C	ENST00000336338.5	-	2	210	c.145C>G	c.(145-147)Ctc>Gtc	p.L49V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	49						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCTTGGATGAGAAGATCATCT	0.453													8	41					0	0	0	0	C	118693935	G	C	118693935	3	2	247	1	0	0	0	0	1	0	0	0	15069	942	33	2	6714	2	SPAG17	1	118693935	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	8607898	118693935	130556686	13	44230											
ITGA10	8515	broad.mit.edu	37	chr1	145536002	145536002	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcctccttcattcagacatGaggttcaccgcatcactgga	9	11	8	13	1	4	2	4	1	0	1	5	3	5	3	3	2	1	2	3	2	0	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:145536002G>C	ENST00000369304.3	+	17	2269	c.2094G>C	c.(2092-2094)atG>atC	p.M698I	ITGA10_ENST00000539363.1_Missense_Mutation_p.M555I|ITGA10_ENST00000538811.1_Missense_Mutation_p.M567I	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	698					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATTCAGACATGAGGTTCACCG	0.542													30	108					0	0	0	0	C	145536002	G	C	145536002	3	2	247	1	0	0	0	0	1	0	0	0	7926	1290	45	2	2160	2	ITGA10	1	145536002	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	26842067	145536002	103714619	14	44231											
TUFT1	7286	broad.mit.edu	37	chr1	151552206	151552206	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatcgcctatctggaggcaGaggtgtgtgtgctgggcagc	8	9	16	8	1	1	1	0	0	1	1	2	2	1	2	1	4	2	3	1	4	2	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:151552206G>C	ENST00000368849.3	+	11	1068	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	TUFT1_ENST00000538902.1_Missense_Mutation_p.E355Q|TUFT1_ENST00000392712.3_Missense_Mutation_p.E281Q|TUFT1_ENST00000368848.2_Missense_Mutation_p.E311Q|TUFT1_ENST00000353024.3_Missense_Mutation_p.E277Q	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	336					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTGGAGGCAGAGGTGTGTGT	0.532													5	12					0	0	0	0	C	151552206	G	C	151552206	3	2	247	1	0	0	0	0	1	0	0	0	16868	943	33	2	1048	2	TUFT1	1	151552206	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	6016204	151552206	97698415	15	44232											
ADAR	103	broad.mit.edu	37	chr1	154573540	154573540	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttcatggggtggtccactCtgctctatcatgttgaactc	6	14	11	10	0	4	1	2	1	2	0	6	1	5	1	1	4	2	3	1	4	2	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:154573540C>T	ENST00000368474.4	-	2	1777	c.1578G>A	c.(1576-1578)caG>caA	p.Q526Q	ADAR_ENST00000292205.5_Silent_p.Q569Q|ADAR_ENST00000368471.3_Silent_p.Q231Q	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	526	DRBM 1.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTGGTCCACTCTGCTCTATCA	0.517													18	97					0	0	0	0	T	154573540	C	T	154573540	2	4	247	1	0	0	0	0	0	0	0	1	281	912	32	2		2	ADAR	1	154573540	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	3021334	154573540	94677081	16	44233											
TRIM46	80128	broad.mit.edu	37	chr1	155156625	155156625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccagtgggcactaagcctGagaggaaagtcaccattggg	12	6	14	9	0	1	1	1	1	0	1	1	3	1	2	3	3	2	1	3	3	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:155156625G>A	ENST00000368382.1	+	10	2307	c.2170G>A	c.(2170-2172)Gag>Aag	p.E724K	TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.E621K|TRIM46_ENST00000334634.4_Missense_Mutation_p.E747K	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	747	B30.2/SPRY.					intracellular	zinc ion binding	p.E747Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACTAAGCCTGAGAGGAAAGT	0.642													5	23					0	0	0	0	A	155156625	G	A	155156625	3	1	247	1	0	0	0	0	1	0	0	0	16616	1291	45	2	2277	2	TRIM46	1	155156625	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	583085	155156625	94093996	17	44234											
RAB25	57111	broad.mit.edu	37	chr1	156038115	156038115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacctaaccaagcaccaGacctatgctgtggtggagcg	10	9	11	11	1	0	2	0	1	0	1	0	3	0	3	4	2	4	2	4	2	3	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:156038115G>T	ENST00000361084.5	+	3	535	c.294G>T	c.(292-294)caG>caT	p.Q98H	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	98					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					CCAAGCACCAGACCTATGCTG	0.547													68	77					9.5628e-27	1.0987e-26	1	0	T	156038115	G	T	156038115	3	4	247	1	0	0	0	0	1	0	0	0	12994	933	33	2	304	2	RAB25	1	156038115	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	881490	156038115	93212506	18	44235											
CD1B	910	broad.mit.edu	37	chr1	158300658	158300658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgtagactcggaatatctCctctaactcagcaacctcct	11	11	6	13	1	3	1	1	0	2	1	6	3	4	2	3	1	3	2	3	1	5	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:158300658C>G	ENST00000368168.3	-	2	363	c.256G>C	c.(256-258)Gag>Cag	p.E86Q		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	86					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CGGAATATCTCCTCTAACTCA	0.458													79	311					0	0	0	0	G	158300658	C	G	158300658	3	3	247	1	0	0	0	0	1	0	0	0	3004	864	30	2	765	2	CD1B	1	158300658	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	2262543	158300658	90949963	19	44236											
OR6N1	128372	broad.mit.edu	37	chr1	158736156	158736156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcactcagtcgctccaaggGagtgaaagaaatagatctgc	14	7	11	9	1	2	3	1	1	1	2	4	4	3	4	1	1	2	2	1	1	4	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:158736156G>T	ENST00000335094.2	-	1	336	c.317C>A	c.(316-318)tCc>tAc	p.S106Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CGCTCCAAGGGAGTGAAAGAA	0.502													12	34					5.50884e-06	5.81389e-06	1	0	T	158736156	G	T	158736156	3	4	247	1	0	0	0	0	1	0	0	0	11277	1174	41	2	624	2	OR6N1	1	158736156	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	435498	158736156	90514465	20	44237											
DARC	2532	broad.mit.edu	37	chr1	159174732	159174732	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcccttctgtctgcgggCctgaaccaaacggtgccatg	7	8	11	15	2	2	1	0	1	2	0	2	1	2	1	5	2	5	0	5	2	2	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:159174732C>A	ENST00000537147.1	+	0	826				DARC_ENST00000368122.2_De_novo_Start_OutOfFrame			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor						defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGTCTGCGGGCCTGAACCAAA	0.602													25	53					3.73808e-20	4.24961e-20	1	0	A	159174732	C	A	159174732	1	1	247	1	0	0	0	0	0	0	0	0	4273	754	26	4		4	DARC	1	159174732	Translation_Start_Site	SNP	C	TCGA-CV-6441-01A-11D-1683-08	438576	159174732	90075889	21	44238											
TNN	63923	broad.mit.edu	37	chr1	175116116	175116116	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattctccattccttacgTggagttgaaaatccgccctc	9	13	7	12	2	1	2	0	2	1	0	5	3	3	3	4	1	1	1	4	1	4	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:175116116T>C	ENST00000239462.4	+	19	3922	c.3809T>C	c.(3808-3810)gTg>gCg	p.V1270A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1270	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATTCCTTACGTGGAGTTGAAA	0.522											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	45					0	0	0	0	C	175116116	T	C	175116116	3	2	247	1	0	0	0	0	1	0	0	0	16417	1696	59	5	3879	5	TNN	1	175116116	Missense_Mutation	SNP	T	TCGA-CV-6441-01A-11D-1683-08	15941384	175116116	74134505	22	44239											
TDRD5	163589	broad.mit.edu	37	chr1	179561846	179561846	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagcccacaggagttggaGaaggagtaccttttgatggt	10	11	14	6	0	0	3	0	2	0	1	0	6	0	5	2	4	2	2	2	4	2	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:179561846G>C	ENST00000444136.1	+	2	346	c.96G>C	c.(94-96)gaG>gaC	p.E32D	TDRD5_ENST00000367614.1_Missense_Mutation_p.E32D|TDRD5_ENST00000294848.8_Missense_Mutation_p.E32D	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	32	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGGAGTTGGAGAAGGAGTACC	0.478													23	106					0	0	0	0	C	179561846	G	C	179561846	3	2	247	1	0	0	0	0	1	0	0	0	15827	933	33	2	98	2	TDRD5	1	179561846	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	4445730	179561846	69688775	23	44240											
ZNF281	23528	broad.mit.edu	37	chr1	200377873	200377873	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataaacttcatgctgcactGatcacatccaaatggcttct	13	12	5	11	0	3	1	2	1	1	0	4	1	4	1	1	1	3	3	1	1	4	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:200377873G>A	ENST00000294740.2	-	2	1085	c.961C>T	c.(961-963)Cag>Tag	p.Q321*	ZNF281_ENST00000367353.1_Nonsense_Mutation_p.Q321*|ZNF281_ENST00000367352.3_Nonsense_Mutation_p.Q285*	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	321					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ATGCTGCACTGATCACATCCA	0.403													117	171					0	0	0	0	A	200377873	G	A	200377873	4	1	247	1	0	0	0	0	0	1	0	0	17913	1299	45	2	1730	2	ZNF281	1	200377873	Nonsense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	20816027	200377873	48872748	24	44241											
LGR6	59352	broad.mit.edu	37	chr1	202287786	202287786	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttcgcagacgggctcctCtactgtcccgtggccttcct	4	12	9	16	3	2	1	0	0	2	1	6	1	5	1	4	2	1	2	4	2	1	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:202287786C>G	ENST00000367278.3	+	18	2444	c.2355C>G	c.(2353-2355)ctC>ctG	p.L785L	LGR6_ENST00000255432.7_Silent_p.L733L|LGR6_ENST00000439764.2_Silent_p.L646L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	785						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ACGGGCTCCTCTACTGTCCCG	0.647													13	77					0	0	0	0	G	202287786	C	G	202287786	2	3	247	1	0	0	0	0	0	0	0	1	8812	900	32	2		2	LGR6	1	202287786	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	1909913	202287786	46962835	25	44242											
REN	5972	broad.mit.edu	37	chr1	204124994	204124994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtattctttgcctcccAggtggaaagagatgtcgggg	7	11	15	8	2	1	1	0	0	1	1	3	3	2	2	2	4	1	1	2	4	2	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:204124994A>G	ENST00000367195.2	-	8	1047	c.1004T>C	c.(1003-1005)cTg>cCg	p.L335P	REN_ENST00000272190.8_Missense_Mutation_p.L338P			P00797	RENI_HUMAN	renin	338					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TTTGCCTCCCAGGTGGAAAGA	0.572													5	27					0	0	0	0	G	204124994	A	G	204124994	3	3	247	1	0	0	0	0	1	0	0	0	13306	188	7	5	215	5	REN	1	204124994	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	1837208	204124994	45125627	26	44243											
ELK4	2005	broad.mit.edu	37	chr1	205589519	205589519	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagcttggatagtttcttCtgaagatggagaaatacttg	13	13	10	5	0	2	3	0	1	2	2	2	5	2	4	0	2	2	2	0	2	5	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:205589519C>G	ENST00000357992.4	-	3	994	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q	ELK4_ENST00000289703.4_Missense_Mutation_p.E219Q	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			ATAGTTTCTTCTGAAGATGGA	0.473			T	SLC45A3	prostate								19	72					0	0	0	0	G	205589519	C	G	205589519	3	3	247	1	0	0	0	0	1	0	0	0	5099	922	32	2	790	2	ELK4	1	205589519	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	1464525	205589519	43661102	27	44244											
RASSF5	83593	broad.mit.edu	37	chr1	206760273	206760273	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtttaggcagaaactggAggaggccttaagagaatccc	14	7	12	8	0	0	2	0	0	0	2	1	5	1	4	2	4	1	2	2	4	5	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:206760273A>G	ENST00000304534.8	+	5	1170	c.761A>G	c.(760-762)gAg>gGg	p.E254G	RASSF5_ENST00000338603.2_Intron|RASSF5_ENST00000367117.3_3'UTR|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000355294.4_Missense_Mutation_p.E407G|RASSF5_ENST00000491368.1_3'UTR	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	407					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGAAACTGGAGGAGGCCTTA	0.418													3	49					0	0	0	0	G	206760273	A	G	206760273	3	3	247	1	0	0	0	0	1	0	0	0	13171	304	11	5	1366	5	RASSF5	1	206760273	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	1170754	206760273	42490348	28	44245											
INTS7	25896	broad.mit.edu	37	chr1	212115325	212115325	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actataccattggcatctttCacagaagattccactgtaat	13	13	5	10	0	2	2	1	0	1	2	3	2	3	2	2	1	1	2	2	1	4	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:212115325C>T	ENST00000366994.3	-	20	2834	c.2730G>A	c.(2728-2730)gtG>gtA	p.V910V	INTS7_ENST00000366992.3_Silent_p.V890V|INTS7_ENST00000440600.2_Silent_p.V861V|INTS7_ENST00000366993.3_Silent_p.V896V|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	910					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TGGCATCTTTCACAGAAGATT	0.403													28	103					0	0	0	0	T	212115325	C	T	212115325	2	4	247	1	0	0	0	0	0	0	0	1	7836	813	29	2		2	INTS7	1	212115325	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	5355052	212115325	37135296	29	44246											
ITPKB	3707	broad.mit.edu	37	chr1	226925078	226925078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcgtctcgctgccactggGccccgggccgccgccgctct	1	6	15	19	6	2	0	0	0	2	0	3	0	2	0	6	3	1	2	6	3	0	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:226925078G>A	ENST00000429204.1	-	2	409	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S	ITPKB_ENST00000366784.1_Missense_Mutation_p.P28S|ITPKB_ENST00000272117.3_Missense_Mutation_p.P28S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	28							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTGCCACTGGGCCCCGGGCCG	0.672													9	11					0	0	0	0	A	226925078	G	A	226925078	3	1	247	1	0	0	0	0	1	0	0	0	7971	1203	42	4	2786	4	ITPKB	1	226925078	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	14809753	226925078	22325543	30	44247											
RSAD2	91543	broad.mit.edu	37	chr2	7018158	7018158	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccaccccaaccagcgtcaActatcacttcactcgccagt	11	7	4	19	2	3	0	3	0	0	0	4	0	3	0	5	0	3	0	5	0	3	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:7018158A>G	ENST00000382040.3	+	1	363	c.227A>G	c.(226-228)aAc>aGc	p.N76S		NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	76					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		ACCAGCGTCAACTATCACTTC	0.542													23	41					0	0	0	0	G	7018158	A	G	7018158	3	3	247	1	0	0	0	0	1	0	0	0	13780	43	2	5	229	5	RSAD2	2	7018158	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08		7018158	236181215	31	44248											
TRIM54	57159	broad.mit.edu	37	chr2	27528452	27528452	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgctccccatcttttagGacaatagccggaggcagaag	10	9	10	12	1	1	1	0	0	1	1	2	3	2	3	4	3	2	2	4	3	4	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:27528452G>T	ENST00000296098.4	+	6	1006	c.735_splice	c.e6-1	p.D246_splice	TRIM54_ENST00000380075.2_Splice_Site_p.D204_splice	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	204					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTTTTAGGACAATAGCCG	0.582													4	12					0.184627	0.186353	1	0	T	27528452	G	T	27528452	5	4	247	1	0	0	0	0	0	0	1	0	16623	1188	41	2	758	2	TRIM54	2	27528452	Splice_Site	SNP	G	TCGA-CV-6441-01A-11D-1683-08	20510294	27528452	215670921	32	44249											
ZNF513	130557	broad.mit.edu	37	chr2	27600461	27600461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcagtccccagggctGgtgggccccgagagctcaaa	8	5	14	14	1	1	1	1	0	0	1	2	2	2	1	5	3	3	3	5	3	1	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:27600461G>T	ENST00000323703.6	-	4	1775	c.1577C>A	c.(1576-1578)cCa>cAa	p.P526Q	ZNF513_ENST00000407879.1_Missense_Mutation_p.P464Q	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	526					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCAGGGCTGGTGGGCCCCG	0.622													32	61					6.90743e-12	7.61227e-12	1	0	T	27600461	G	T	27600461	3	4	247	1	0	0	0	0	1	0	0	0	18053	1348	47	4	52	4	ZNF513	2	27600461	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	72009	27600461	215598912	33	44250											
THUMPD2	80745	broad.mit.edu	37	chr2	39983088	39983088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacacattggatctaaaaCaaatgcaccagcctgcagac	15	7	6	13	0	1	1	0	0	1	1	2	2	2	2	3	1	4	2	3	1	3	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:39983088C>A	ENST00000505747.1	-	7	931	c.904G>T	c.(904-906)Gtt>Ttt	p.V302F	THUMPD2_ENST00000260619.6_Missense_Mutation_p.V272F	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	302							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				GGATCTAAAACAAATGCACCA	0.333													4	64					0.00024832	0.000256228	1	0	A	39983088	C	A	39983088	3	1	247	1	0	0	0	0	1	0	0	0	15977	478	17	4	623	4	THUMPD2	2	39983088	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	12382627	39983088	203216285	34	44251											
THADA	63892	broad.mit.edu	37	chr2	43808911	43808911	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttggtaaaaatactcagCaatccacacatattttgcca	15	11	4	11	0	1	0	1	0	0	0	2	0	2	0	3	1	3	2	3	1	6	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:43808911C>T	ENST00000403856.1	-	9	837	c.690G>A	c.(688-690)ttG>ttA	p.L230L	THADA_ENST00000402360.2_Silent_p.L230L|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Silent_p.L230L|THADA_ENST00000405006.4_Silent_p.L230L|THADA_ENST00000405975.2_Silent_p.L230L			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	230							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AAATACTCAGCAATCCACACA	0.328													8	72					0	0	0	0	T	43808911	C	T	43808911	2	4	247	1	0	0	0	0	0	0	0	1	15934	709	25	4		4	THADA	2	43808911	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	3825823	43808911	199390462	35	44252											
TTC7A	57217	broad.mit.edu	37	chr2	47278982	47278982	+	Missense_Mutation	SNP	G	G	T																															ctgaagcagggccccatgcaGctgtggaccacgctggaaca																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:47278982G>T	ENST00000319190.5	+	18	2483	c.2115G>T	c.(2113-2115)caG>caT	p.Q705H	TTC7A_ENST00000409245.1_Missense_Mutation_p.Q671H|TTC7A_ENST00000263737.6_Missense_Mutation_p.Q351H|TTC7A_ENST00000394850.2_Missense_Mutation_p.Q729H	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	705							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCCCCATGCAGCTGTGGACCA	0.657													18	15					2.48551e-13	2.74848e-13	1	0	T	47278982	G	T	47278982	3	4	247	1	0	0	0	0	1	0	0	0	16808	962	34	4	2185	4	TTC7A	2	47278982	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	3470071	47278982	195920391	36	44253	337	2									
TTC7A	57217	broad.mit.edu	37	chr2	47278983	47278983	+	Silent	SNP	C	C	T																															tgaagcagggccccatgcagCtgtggaccacgctggaacag																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:47278983C>T	ENST00000319190.5	+	18	2484	c.2116C>T	c.(2116-2118)Ctg>Ttg	p.L706L	TTC7A_ENST00000409245.1_Silent_p.L672L|TTC7A_ENST00000263737.6_Silent_p.L352L|TTC7A_ENST00000394850.2_Silent_p.L730L	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	706							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCCCATGCAGCTGTGGACCAC	0.657													18	15					0	0	0	0	T	47278983	C	T	47278983	2	4	247	1	0	0	0	0	0	0	0	1	16808	796	28	4		4	TTC7A	2	47278983	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	1	47278983	195920390	37	44254	337	2									
PTCD3	55037	broad.mit.edu	37	chr2	86361419	86361419	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttcttgtttcaagatagTaaagaatatggtcatacttt	12	17	6	6	0	3	2	2	0	1	2	3	2	3	2	1	1	1	2	1	1	7	8			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:86361419T>G	ENST00000254630.7	+	20	1614	c.1548T>G	c.(1546-1548)agT>agG	p.S516R		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	516						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TTCAAGATAGTAAAGAATATG	0.408													12	26					0	0	0	0	G	86361419	T	G	86361419	3	3	247	1	0	0	0	0	1	0	0	0	12808	1635	57	5	1626	5	PTCD3	2	86361419	Missense_Mutation	SNP	T	TCGA-CV-6441-01A-11D-1683-08	39082436	86361419	156837954	38	44255											
SLC5A7	60482	broad.mit.edu	37	chr2	108626801	108626801	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgggctctggtacctcagTtctgaccttgtttacatcgt	6	16	9	10	1	3	1	1	1	2	0	4	1	3	1	2	2	2	4	2	2	3	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:108626801T>C	ENST00000264047.2	+	9	1503	c.1227T>C	c.(1225-1227)agT>agC	p.S409S	SLC5A7_ENST00000540517.1_Silent_p.S304S|SLC5A7_ENST00000409059.1_Silent_p.S409S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	409					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGTACCTCAGTTCTGACCTTG	0.483													28	40					0	0	0	0	C	108626801	T	C	108626801	2	2	247	1	0	0	0	0	0	0	0	1	14758	1722	60	5		5	SLC5A7	2	108626801	Silent	SNP	T	TCGA-CV-6441-01A-11D-1683-08	22265382	108626801	134572572	39	44256											
MARCO	8685	broad.mit.edu	37	chr2	119727757	119727757	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgacactctggcggctgaGgacagcccgtccttctcctt	7	10	10	14	2	2	2	0	2	2	0	4	3	3	3	3	3	1	1	3	3	1	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:119727757G>C	ENST00000541757.1	+	4	413	c.33G>C	c.(31-33)gaG>gaC	p.E11D	MARCO_ENST00000327097.4_Missense_Mutation_p.E89D			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	89					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGGCGGCTGAGGACAGCCCGT	0.607													22	32					0	0	0	0	C	119727757	G	C	119727757	3	2	247	1	0	0	0	0	1	0	0	0	9380	991	35	4	277	4	MARCO	2	119727757	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	11100956	119727757	123471616	40	44257											
GLI2	2736	broad.mit.edu	37	chr2	121732650	121732650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccactgggaagactgcAccaaggagtacgacacccag	13	4	11	13	1	0	1	0	0	0	1	0	4	0	3	3	2	3	2	3	2	3	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:121732650A>G	ENST00000452319.1	+	9	1393	c.1333A>G	c.(1333-1335)Acc>Gcc	p.T445A	GLI2_ENST00000361492.4_Missense_Mutation_p.T445A|GLI2_ENST00000314490.11_Missense_Mutation_p.T117A|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	445					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)				GGAAGACTGCACCAAGGAGTA	0.597													9	50					0	0	0	0	G	121732650	A	G	121732650	3	3	247	1	0	0	0	0	1	0	0	0	6489	159	6	5	1363	5	GLI2	2	121732650	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	2004893	121732650	121466723	41	44258											
LRP1B	53353	broad.mit.edu	37	chr2	141598641	141598641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacccaatccactgctaGccctctgatactctgaatat	11	11	5	14	0	2	3	0	3	2	0	3	3	3	3	3	0	3	1	3	0	5	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:141598641G>A	ENST00000389484.3	-	30	5931	c.4960C>T	c.(4960-4962)Cta>Tta	p.L1654L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1654					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCACTGCTAGCCCTCTGATA	0.368										TSP Lung(27;0.18)			27	45					0	0	0	0	A	141598641	G	A	141598641	2	1	247	1	0	0	0	0	0	0	0	1	9019	962	34	4		4	LRP1B	2	141598641	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	19865991	141598641	101600732	42	44259											
GALNT5	11227	broad.mit.edu	37	chr2	158157196	158157196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcttccaggtgtggatGtgtggtggtgaaattgagat	10	14	14	3	0	1	2	0	2	1	1	2	4	2	3	1	4	0	0	1	4	2	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:158157196G>A	ENST00000259056.4	+	7	2609	c.2124G>A	c.(2122-2124)atG>atA	p.M708I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	708	Catalytic subdomain B.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AGGTGTGGATGTGTGGTGGTG	0.428													9	65					0	0	0	0	A	158157196	G	A	158157196	3	1	247	1	0	0	0	0	1	0	0	0	6265	1377	48	4	2150	4	GALNT5	2	158157196	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	16558555	158157196	85042177	43	44260											
BAZ2B	29994	broad.mit.edu	37	chr2	160206345	160206345	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcaccaaagaagcagtTgacatatcggcatgagtaag	15	7	12	7	1	1	3	1	2	0	1	2	4	1	4	1	2	1	4	1	2	4	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:160206345T>C	ENST00000392783.2	-	28	5232	c.4737A>G	c.(4735-4737)tcA>tcG	p.S1579S	BAZ2B_ENST00000392782.1_Silent_p.S1543S|BAZ2B_ENST00000355831.2_Silent_p.S1545S|BAZ2B_ENST00000343439.5_Silent_p.S1479S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AAGAAGCAGTTGACATATCGG	0.453													46	75					0	0	0	0	C	160206345	T	C	160206345	2	2	247	1	0	0	0	0	0	0	0	1	1336	1799	63	5		5	BAZ2B	2	160206345	Silent	SNP	T	TCGA-CV-6441-01A-11D-1683-08	2049149	160206345	82993028	44	44261											
CDCA7	83879	broad.mit.edu	37	chr2	174229611	174229611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcctcttaccaggtcaaGgtcccggatcctcgggtccc	5	10	10	16	3	2	0	1	0	1	0	8	1	6	1	5	4	1	0	5	4	2	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:174229611G>T	ENST00000306721.3	+	6	891	c.788G>T	c.(787-789)aGg>aTg	p.R263M	CDCA7_ENST00000410101.3_Missense_Mutation_p.R219M|CDCA7_ENST00000392567.2_Missense_Mutation_p.R184M|CDCA7_ENST00000410019.3_Missense_Mutation_p.R142M|CDCA7_ENST00000347703.3_Missense_Mutation_p.R184M	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	184	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			ACCAGGTCAAGGTCCCGGATC	0.547													10	42					1.76689e-08	1.89561e-08	1	0	T	174229611	G	T	174229611	3	4	247	1	0	0	0	0	1	0	0	0	3119	1000	35	4	810	4	CDCA7	2	174229611	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	14023266	174229611	68969762	45	44262											
TTN	7273	broad.mit.edu	37	chr2	179430407	179430407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttcctttgggctgcatttCaacaacgtaccccaggactc	9	11	8	13	1	1	0	1	0	0	0	3	1	2	1	3	2	4	4	3	2	3	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:179430407C>T	ENST00000589042.1	-	326	80676	c.80452G>A	c.(80452-80454)Gaa>Aaa	p.E26818K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17753K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24250K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25177K|TTN_ENST00000342175.6_Missense_Mutation_p.E17945K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17878K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25177	Fibronectin type-III 95.						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)			GGCTGCATTTCAACAACGTAC	0.453													21	131					0	0	0	0	T	179430407	C	T	179430407	3	4	247	1	0	0	0	0	1	0	0	0	16831	835	29	2	27675	2	TTN	2	179430407	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	5200796	179430407	63768966	46	44263											
TTN	7273	broad.mit.edu	37	chr2	179458509	179458510	+	Frame_Shift_Ins	INS	-	-	T																															tgattttactgcctccatcaINStctaaaggaggcttccaaga																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:179458509_179458510insT	ENST00000589042.1	-	298	58741_58742	c.58517_58518insA	c.(58516-58518)ggafs	p.G19506fs	TTN_ENST00000342992.6_Frame_Shift_Ins_p.G16938fs|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.G10441fs|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.G10566fs|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.G17865fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.G10633fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17865	Fibronectin type-III 41.						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)			TGCCTCCATCATCTAAAGGAGG	0.416													19	41	---	---	---	---					T	179458510	-	T	179458509	7	5	247	1	0	1	1	0	0	0	0	0	16831	214	8	0	49721	0	TTN	2	179458509	Frame_Shift_Ins	INS	-	TCGA-CV-6441-01A-11D-1683-08	28102	179458509	63740864	47	44264											
TTN	7273	broad.mit.edu	37	chr2	179482556	179482556	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctgcacttggttttccaActccaattcgattttgggct	6	16	9	10	1	0	0	0	0	0	0	3	1	2	0	2	3	2	4	2	3	2	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:179482556A>T	ENST00000589042.1	-	253	47746	c.47522T>A	c.(47521-47523)gTt>gAt	p.V15841D	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V6776D|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V13273D|TTN_ENST00000591111.1_Missense_Mutation_p.V14200D|TTN_ENST00000342175.6_Missense_Mutation_p.V6968D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V6901D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14200	Fibronectin type-III 15.						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)			TGGTTTTCCAACTCCAATTCG	0.443													45	75					0	0	0	0	T	179482556	A	T	179482556	3	4	247	1	0	0	0	0	1	0	0	0	16831	43	2	5	60611	5	TTN	2	179482556	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	24047	179482556	63716817	48	44265											
TTN	7273	broad.mit.edu	37	chr2	179616191	179616192	+	Frame_Shift_Ins	INS	-	-	T																															cccttttgttccacatcttgINSttttttgttaaagggagagc																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:179616191_179616192insT	ENST00000360870.5	-	46	11157_11158	c.10935_10936insA	c.(10933-10938)aaaagafs	p.R3646fs	TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9491	Ig-like 22.						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)			TCCACATCTTGTTTTTTGTTAA	0.371													47	95	---	---	---	---					T	179616192	-	T	179616191	7	5	247	1	0	1	1	0	0	0	0	0	16831	1386	48	0	99361	0	TTN	2	179616191	Frame_Shift_Ins	INS	-	TCGA-CV-6441-01A-11D-1683-08	133635	179616191	63583182	49	44266											
ZNF385B	151126	broad.mit.edu	37	chr2	180348156	180348156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgtagtgggcctcggcCtggctctacaaaggagaaca	9	9	12	11	1	1	1	0	0	1	1	2	2	1	1	3	4	2	2	3	4	4	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:180348156C>A	ENST00000410066.1	-	6	1116	c.513G>T	c.(511-513)caG>caT	p.Q171H	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.Q69H|ZNF385B_ENST00000409343.1_Missense_Mutation_p.Q95H|ZNF385B_ENST00000336917.5_Missense_Mutation_p.Q69H	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	171						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GGGCCTCGGCCTGGCTCTACA	0.428													30	34					2.80507e-11	3.04981e-11	1	0	A	180348156	C	A	180348156	3	1	247	1	0	0	0	0	1	0	0	0	17972	680	24	4	922	4	ZNF385B	2	180348156	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	731965	180348156	62851217	50	44267											
STAT1	6772	broad.mit.edu	37	chr2	191872313	191872313	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatctctgggcgttttcCagaattttcctttcttcctt	6	20	5	10	1	2	1	0	0	2	1	6	1	5	1	3	1	0	1	3	1	3	8			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:191872313C>A	ENST00000361099.3	-	5	735	c.348G>T	c.(346-348)ctG>ctT	p.L116L	STAT1_ENST00000392322.3_Silent_p.L116L|STAT1_ENST00000409465.1_Silent_p.L116L|STAT1_ENST00000392323.2_Silent_p.L118L|STAT1_ENST00000540176.1_Silent_p.L116L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	116					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GGGCGTTTTCCAGAATTTTCC	0.328													38	44					2.19358e-23	2.51138e-23	1	0	A	191872313	C	A	191872313	2	1	247	1	0	0	0	0	0	0	0	1	15354	581	21	4		4	STAT1	2	191872313	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	11524157	191872313	51327060	51	44268											
RAPH1	65059	broad.mit.edu	37	chr2	204306102	204306102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggataaagggggcacaagtGaagtgtagggccgattcata	13	7	16	5	1	1	1	1	1	0	0	1	3	1	2	1	4	0	2	1	4	6	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:204306102G>A	ENST00000319170.5	-	14	2110	c.1811C>T	c.(1810-1812)tCa>tTa	p.S604L	RAPH1_ENST00000374493.3_Missense_Mutation_p.S656L|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	604					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGCACAAGTGAAGTGTAGGG	0.502													4	17					0	0	0	0	A	204306102	G	A	204306102	3	1	247	1	0	0	0	0	1	0	0	0	13132	1294	45	2	1945	2	RAPH1	2	204306102	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	12433789	204306102	38893271	52	44269											
SPEG	10290	broad.mit.edu	37	chr2	220309817	220309817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggtcagaggatagcctttCcgtggccagtgacctgtacg	7	9	15	10	2	1	2	1	1	0	1	2	3	2	3	4	4	2	1	4	4	2	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:220309817C>T	ENST00000312358.7	+	3	881	c.749C>T	c.(748-750)tCc>tTc	p.S250F	SPEG_ENST00000396698.1_Missense_Mutation_p.S146F|SPEG_ENST00000396695.2_Intron	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	250					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GATAGCCTTTCCGTGGCCAGT	0.652													4	8					0	0	0	0	T	220309817	C	T	220309817	3	4	247	1	0	0	0	0	1	0	0	0	15126	855	30	2	759	2	SPEG	2	220309817	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	16003715	220309817	22889556	53	44270											
COL4A3	1285	broad.mit.edu	37	chr2	228131135	228131135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgctgtatttttataggtGacatcgtttttcgcaagggt	7	17	12	5	2	0	1	0	1	0	0	2	1	0	1	0	3	1	4	0	3	4	7			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:228131135G>A	ENST00000396578.3	+	22	1480	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	440	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTTTATAGGTGACATCGTTTT	0.393													3	33					0	0	0	0	A	228131135	G	A	228131135	3	1	247	1	0	0	0	0	1	0	0	0	3721	1290	45	2	1404	2	COL4A3	2	228131135	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	7821318	228131135	15068238	54	44271											
C2orf83	56918	broad.mit.edu	37	chr2	228476153	228476165	+	Frame_Shift_Del	DEL	TCTTGTGGCTTCT	TCTTGTGGCTTCT	-																															aatggctccagagcaccgaaTcttgtggcttcttgttctct																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:228476153_228476165delTCTTGTGGCTTCT	ENST00000264387.4	-	3	484_496	c.398_410delAGAAGCCACAAGA	c.(397-411)atfs	p.KKPQD133fs	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	133						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						GAGCACCGAATCTTGTGGCTTCTTGTTCTCTGT	0.493													9	89	---	---	---	---					-	228476165	TCTTGTGGCTTCT	-	228476153	7	5	247	1	0	1	0	1	0	0	0	0	2218	1435	50	0	46	0	C2orf83	2	228476153	Frame_Shift_Del	DEL	TCTTGTGGCTTCT	TCGA-CV-6441-01A-11D-1683-08	345018	228476153	14723220	55	44272											
EIF4E2	9470	broad.mit.edu	37	chr2	233431923	233431923	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcacaccgacagcatcAagtacgtgttggggggttat	12	9	11	9	2	2	0	2	0	0	0	2	1	2	0	1	3	3	4	1	3	4	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:233431923A>G	ENST00000409167.3	+	5	565	c.529A>G	c.(529-531)Aag>Gag	p.K177E	EIF4E2_ENST00000409495.1_Missense_Mutation_p.K222E|EIF4E2_ENST00000409514.1_Splice_Site_p.K222_splice|EIF4E2_ENST00000258416.3_Splice_Site_p.K222_splice|EIF4E2_ENST00000409322.1_Splice_Site_p.K177_splice|EIF4E2_ENST00000409394.1_Splice_Site_p.K177_splice|EIF4E2_ENST00000409098.1_Splice_Site_p.K222_splice			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	222	7-methylguanosine-containing mRNA cap binding.				regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CGACAGCATCAAGTACGTGTT	0.507													3	103					0	0	0	0	G	233431923	A	G	233431923	3	3	247	1	0	0	0	0	1	0	0	0	5068	144	5	5	686	5	EIF4E2	2	233431923	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	4955770	233431923	9767450	56	44273											
UGT1A6	54578	broad.mit.edu	37	chr2	234602466	234602466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggtcatgcccaacatggtCttcattggaggtatcaactg	9	11	10	11	1	4	0	3	0	1	0	4	1	4	1	2	4	3	1	2	4	3	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:234602466C>T	ENST00000305139.6	+	1	955	c.816C>T	c.(814-816)gtC>gtT	p.V272V	UGT1A6_ENST00000406651.1_Silent_p.V5V|UGT1A6_ENST00000373424.1_Silent_p.V5V|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_3'UTR|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|AC114812.8_ENST00000439336.1_RNA	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		CCAACATGGTCTTCATTGGAG	0.438													243	375					0	0	0	0	T	234602466	C	T	234602466	2	4	247	1	0	0	0	0	0	0	0	1	17045	900	32	2		2	UGT1A6	2	234602466	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	1170543	234602466	8596907	57	44274											
STK25	10494	broad.mit.edu	37	chr2	242435884	242435884	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggactcctcggccaggctGaaggcgttctccagctcctc	6	8	11	16	2	1	1	0	1	1	0	6	2	3	2	4	4	1	3	4	4	1	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:242435884G>C	ENST00000316586.4	-	11	1519	c.1170C>G	c.(1168-1170)ttC>ttG	p.F390L	STK25_ENST00000543554.1_Missense_Mutation_p.F296L|STK25_ENST00000405883.3_Missense_Mutation_p.F313L|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405585.1_Missense_Mutation_p.F313L|STK25_ENST00000403346.3_Missense_Mutation_p.F390L|STK25_ENST00000401869.1_Missense_Mutation_p.F390L|STK25_ENST00000535007.1_Missense_Mutation_p.F296L	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN	serine/threonine kinase 25	390					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CGGCCAGGCTGAAGGCGTTCT	0.657													13	59					0	0	0	0	C	242435884	G	C	242435884	3	2	247	1	0	0	0	0	1	0	0	0	15384	1281	45	2	118	2	STK25	2	242435884	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	7833418	242435884	763489	58	44275											
ROBO1	6091	broad.mit.edu	37	chr3	79067568	79067568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggttacctgaacagagaCatattaatccaaacaggtaa	16	8	9	8	1	0	2	0	1	0	1	1	3	1	2	2	3	3	2	2	3	6	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr3:79067568C>G	ENST00000436010.2	-	1	1041	c.44G>C	c.(43-45)tGt>tCt	p.C15S	ROBO1_ENST00000464233.1_Intron|ROBO1_ENST00000495273.1_Missense_Mutation_p.C15S|ROBO1_ENST00000467549.1_Missense_Mutation_p.C15S			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	0					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGAACAGAGACATATTAATCC	0.498													10	7					0	0	0	0	G	79067568	C	G	79067568	3	3	247	1	0	0	0	0	1	0	0	0	13598	478	17	4	4923	4	ROBO1	3	79067568	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08		79067568	118954862	59	44276											
EPHA3	2042	broad.mit.edu	37	chr3	89498433	89498433	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagcctaccgcaagttcaCgtcagccagcgatgtatgga	11	9	10	11	3	2	0	2	0	0	0	2	2	2	1	3	1	4	3	3	1	5	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr3:89498433C>G	ENST00000336596.2	+	14	2630	c.2405C>G	c.(2404-2406)aCg>aGg	p.T802R	EPHA3_ENST00000494014.1_Missense_Mutation_p.T802R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	802	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGCAAGTTCACGTCAGCCAGC	0.438										TSP Lung(6;0.00050)			50	65					0	0	0	0	G	89498433	C	G	89498433	3	3	247	1	0	0	0	0	1	0	0	0	5206	536	19	3	2485	3	EPHA3	3	89498433	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	10430865	89498433	108523997	60	44277											
OR5H14	403273	broad.mit.edu	37	chr3	97868318	97868318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatacccctgttcctggCattcttggtaatatatctca	11	14	6	10	0	2	0	1	0	2	0	4	1	3	0	3	2	1	3	3	2	6	7			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr3:97868318C>A	ENST00000437310.1	+	1	149	c.89C>A	c.(88-90)gCa>gAa	p.A30E		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGTTCCTGGCATTCTTGGTA	0.418													80	153					2.36867e-37	2.75071e-37	1	0	A	97868318	C	A	97868318	3	1	247	1	0	0	0	0	1	0	0	0	11231	710	25	4	91	4	OR5H14	3	97868318	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	8369885	97868318	100154112	61	44278											
CCDC80	151887	broad.mit.edu	37	chr3	112358039	112358039	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacctgcagcgtcttcttCagcagcaccatgccaaactt	9	10	6	16	1	3	0	1	0	2	0	4	0	4	0	4	0	6	3	4	0	1	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr3:112358039C>T	ENST00000206423.3	-	2	1667	c.714G>A	c.(712-714)ctG>ctA	p.L238L	CCDC80_ENST00000439685.2_Silent_p.L238L	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	238										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GCGTCTTCTTCAGCAGCACCA	0.582													20	108					0	0	0	0	T	112358039	C	T	112358039	2	4	247	1	0	0	0	0	0	0	0	1	2881	813	29	2		2	CCDC80	3	112358039	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	14489721	112358039	85664391	62	44279											
DRD3	1814	broad.mit.edu	37	chr3	113850024	113850024	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggcactccccgaggtTgcaggggccccagcttcaaa	9	6	13	13	1	1	0	1	0	0	0	2	2	2	0	4	4	2	4	4	4	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr3:113850024T>G	ENST00000383673.2	-	6	1377	c.947A>C	c.(946-948)cAa>cCa	p.Q316P	DRD3_ENST00000460779.1_Missense_Mutation_p.Q316P|DRD3_ENST00000467632.1_Missense_Mutation_p.Q316P|DRD3_ENST00000295881.7_Intron	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	316					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TCCCCGAGGTTGCAGGGGCCC	0.537													21	94					0	0	0	0	G	113850024	T	G	113850024	3	3	247	1	0	0	0	0	1	0	0	0	4794	1812	63	5	263	5	DRD3	3	113850024	Missense_Mutation	SNP	T	TCGA-CV-6441-01A-11D-1683-08	1491985	113850024	84172406	63	44280											
ZNF80	7634	broad.mit.edu	37	chr3	113955700	113955700	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctggcattcataaggcttCaccccagtgtgaatctgctg	8	12	9	12	0	3	1	2	1	1	0	4	1	4	1	3	2	1	3	3	2	2	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr3:113955700C>T	ENST00000482457.2	-	1	725	c.222G>A	c.(220-222)gtG>gtA	p.V74V		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	74						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CATAAGGCTTCACCCCAGTGT	0.498													8	23					0	0	0	0	T	113955700	C	T	113955700	2	4	247	1	0	0	0	0	0	0	0	1	18261	813	29	2		2	ZNF80	3	113955700	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	105676	113955700	84066730	64	44281											
STXBP5L	9515	broad.mit.edu	37	chr3	120941894	120941894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggctgtcctatgacaaagCttgtagaagaccaagtttaa	13	11	10	7	0	0	3	0	1	0	2	1	3	1	3	2	1	1	4	2	1	6	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr3:120941894C>A	ENST00000273666.6	+	11	1272	c.1001C>A	c.(1000-1002)gCt>gAt	p.A334D	STXBP5L_ENST00000497029.1_Missense_Mutation_p.A334D|STXBP5L_ENST00000471454.1_Missense_Mutation_p.A334D|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A334D|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A334D	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	334					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TATGACAAAGCTTGTAGAAGA	0.368													33	59					1.26612e-14	1.41945e-14	1	0	A	120941894	C	A	120941894	3	1	247	1	0	0	0	0	1	0	0	0	15447	797	28	4	1039	4	STXBP5L	3	120941894	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	6986194	120941894	77080536	65	44282											
SLC2A2	6514	broad.mit.edu	37	chr3	170725002	170725002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaagtgctcccctgagagCggttggagcaatttcaccga	9	8	12	12	2	1	1	1	1	0	1	2	4	2	2	4	2	3	3	4	2	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr3:170725002C>T	ENST00000314251.3	-	5	626	c.547G>A	c.(547-549)Gct>Act	p.A183T	SLC2A2_ENST00000382808.4_Missense_Mutation_p.A64T	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	183				A -> S (in Ref. 2; BAF83535).	carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			CCCCTGAGAGCGGTTGGAGCA	0.463													5	24					0	0	0	0	T	170725002	C	T	170725002	3	4	247	1	0	0	0	0	1	0	0	0	14632	768	27	1	1055	1	SLC2A2	3	170725002	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	49783108	170725002	27297428	66	44283											
LYAR	55646	broad.mit.edu	37	chr4	4270287	4270287	+	Frame_Shift_Del	DEL	A	A	-																															agctttttgatggttatttcAttgtctggggcctgtttcag																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:4270287delA	ENST00000343470.4	-	9	1215	c.975delT	c.(973-975)aafs	p.N325fs	LYAR_ENST00000452476.1_Frame_Shift_Del_p.N325fs	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	325	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGTTATTTCATTGTCTGGGG	0.333													10	100	---	---	---	---					-	4270287	A	-	4270287	7	5	247	1	0	1	0	1	0	0	0	0	9168	214	8	0	172	0	LYAR	4	4270287	Frame_Shift_Del	DEL	A	TCGA-CV-6441-01A-11D-1683-08		4270287	186883989	67	44284											
NCAPG	64151	broad.mit.edu	37	chr4	17829921	17829921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgatgctgaaacattgcaGaaatgtcttattttatgcta	14	15	7	5	0	1	3	0	2	1	1	1	3	1	3	0	0	4	3	0	0	6	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:17829921G>C	ENST00000251496.2	+	12	1850	c.1674G>C	c.(1672-1674)caG>caC	p.Q558H		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	558					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		AAACATTGCAGAAATGTCTTA	0.348													17	32					0	0	0	0	C	17829921	G	C	17829921	3	2	247	1	0	0	0	0	1	0	0	0	10277	933	33	2	1720	2	NCAPG	4	17829921	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	13559634	17829921	173324355	68	44285											
SLIT2	9353	broad.mit.edu	37	chr4	20525414	20525414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaacaagataaactgccttCgggtagatgcttttcaggat	12	11	9	9	1	1	2	1	0	0	2	2	3	1	3	2	2	4	2	2	2	5	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:20525414C>T	ENST00000504154.1	+	13	1414	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	SLIT2_ENST00000273739.5_Missense_Mutation_p.R392W|SLIT2_ENST00000503823.1_Missense_Mutation_p.R388W|SLIT2_ENST00000503837.1_Missense_Mutation_p.R392W	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	388					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAACTGCCTTCGGGTAGATGC	0.408													23	78					0	0	0	0	T	20525414	C	T	20525414	3	4	247	1	0	0	0	0	1	0	0	0	14828	875	31	1	1212	1	SLIT2	4	20525414	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	2695493	20525414	170628862	69	44286											
KLF3	51274	broad.mit.edu	37	chr4	38696416	38696416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaagagacctttacctgtgGaatccccggatactcaaagg	12	8	11	10	1	1	1	1	0	0	1	2	5	2	4	4	4	2	0	4	4	5	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:38696416G>A	ENST00000261438.5	+	5	1050	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	249	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TTTACCTGTGGAATCCCCGGA	0.478													11	81					0	0	0	0	A	38696416	G	A	38696416	3	1	247	1	0	0	0	0	1	0	0	0	8399	1175	41	2	759	2	KLF3	4	38696416	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	18171002	38696416	152457860	70	44287											
EPHA5	2044	broad.mit.edu	37	chr4	66361186	66361186	+	Missense_Mutation	SNP	T	T	A																															aagaggttgaagcttcctcaTgggtataactgtgaggtgga																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:66361186T>A	ENST00000273854.3	-	4	1586	c.986A>T	c.(985-987)cAt>cTt	p.H329L	EPHA5_ENST00000354839.4_Missense_Mutation_p.H329L|EPHA5_ENST00000511294.1_Missense_Mutation_p.H329L|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	329	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGCTTCCTCATGGGTATAACT	0.463										TSP Lung(17;0.13)			39	74					0	0	0	0	A	66361186	T	A	66361186	3	1	247	1	0	0	0	0	1	0	0	0	5208	1464	51	5	2187	5	EPHA5	4	66361186	Missense_Mutation	SNP	T	TCGA-CV-6441-01A-11D-1683-08	27664770	66361186	124793090	71	44288	338	2									
EPHA5	2044	broad.mit.edu	37	chr4	66361187	66361187	+	Missense_Mutation	SNP	G	G	T																															agaggttgaagcttcctcatGggtataactgtgaggtggac																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:66361187G>T	ENST00000273854.3	-	4	1585	c.985C>A	c.(985-987)Cat>Aat	p.H329N	EPHA5_ENST00000354839.4_Missense_Mutation_p.H329N|EPHA5_ENST00000511294.1_Missense_Mutation_p.H329N|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	329	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GCTTCCTCATGGGTATAACTG	0.468										TSP Lung(17;0.13)			37	73					1.04594e-18	1.17668e-18	1	0	T	66361187	G	T	66361187	3	4	247	1	0	0	0	0	1	0	0	0	5208	1348	47	4	2188	4	EPHA5	4	66361187	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	1	66361187	124793089	72	44289	338	2									
TMPRSS11D	9407	broad.mit.edu	37	chr4	68703947	68703947	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagttattcagcatttgtcGtaaaacagactcaattctgc	13	13	7	8	1	3	2	2	0	1	2	4	2	3	2	0	0	3	3	0	0	4	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:68703947G>A	ENST00000283916.6	-	5	516	c.418C>T	c.(418-420)Cga>Tga	p.R140*	TMPRSS11D_ENST00000545541.1_Nonsense_Mutation_p.R23*|TMPRSS11D_ENST00000509584.1_5'UTR|RP11-453E17.1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	140	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGCATTTGTCGTAAAACAGAC	0.333													19	31					0	0	0	0	A	68703947	G	A	68703947	4	1	247	1	0	0	0	0	0	1	0	0	16335	1153	40	1	862	1	TMPRSS11D	4	68703947	Nonsense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	2342760	68703947	122450329	73	44290											
UGT2B7	7364	broad.mit.edu	37	chr4	69978401	69978401	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatcgtcacaaaatgttgtCtgttttgtttctggaagttt	8	20	8	5	1	3	0	1	0	2	0	4	1	3	1	0	1	0	4	0	1	4	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:69978401C>G	ENST00000305231.7	+	6	1583	c.1537C>G	c.(1537-1539)Ctg>Gtg	p.L513V	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	513					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAAATGTTGTCTGTTTTGTTT	0.413													37	46					0	0	0	0	G	69978401	C	G	69978401	3	3	247	1	0	0	0	0	1	0	0	0	17058	912	32	2	1559	2	UGT2B7	4	69978401	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	1274454	69978401	121175875	74	44291											
UGT2B28	54490	broad.mit.edu	37	chr4	70152479	70152479	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttttcacaggaaatggagGaatttgtacagagctctggt	11	14	11	5	0	2	1	1	0	1	1	2	4	2	4	0	4	2	2	0	4	3	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:70152479G>C	ENST00000335568.5	+	3	882	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q	UGT2B28_ENST00000511240.1_Missense_Mutation_p.E294Q	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GGAAATGGAGGAATTTGTACA	0.383													57	104					0	0	0	0	C	70152479	G	C	70152479	3	2	247	1	0	0	0	0	1	0	0	0	17056	1175	41	2	890	2	UGT2B28	4	70152479	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	174078	70152479	121001797	75	44292											
ANKRD50	57182	broad.mit.edu	37	chr4	125592804	125592804	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaataatgttctcccatttGaatcacactgatttactgaa	13	14	4	10	0	2	3	1	3	1	0	3	3	2	3	2	0	1	1	2	0	5	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:125592804G>C	ENST00000504087.1	-	4	2665	c.1628C>G	c.(1627-1629)tCa>tGa	p.S543*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.S364*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	543										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCTCCCATTTGAATCACACTG	0.398													42	11					0	0	0	0	C	125592804	G	C	125592804	4	2	247	1	0	0	0	0	0	1	0	0	676	1294	45	2	2665	2	ANKRD50	4	125592804	Nonsense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	55440325	125592804	65561472	76	44293											
SNX25	83891	broad.mit.edu	37	chr4	186188282	186188282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagctcattaacagcaactCtgatgtggagttcttgaagc	12	11	9	9	0	3	2	1	2	2	0	3	3	3	3	0	1	5	3	0	1	4	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:186188282C>T	ENST00000504273.1	+	5	866	c.572C>T	c.(571-573)tCt>tTt	p.S191F	SNX25_ENST00000264694.8_Missense_Mutation_p.S191F			Q9H3E2	SNX25_HUMAN	sorting nexin 25	191					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AACAGCAACTCTGATGTGGAG	0.438													15	51					0	0	0	0	T	186188282	C	T	186188282	3	4	247	1	0	0	0	0	1	0	0	0	14984	913	32	2	586	2	SNX25	4	186188282	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	60595478	186188282	4965994	77	44294											
FAT1	2195	broad.mit.edu	37	chr4	187627830	187627830	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgacaccgtcattaccaatGaaccaacaggtgcatcttct	12	9	6	14	2	3	1	1	1	2	0	3	2	3	1	4	1	4	1	4	1	4	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:187627830G>C	ENST00000441802.2	-	2	3361	c.3152C>G	c.(3151-3153)tCa>tGa	p.S1051*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1051	Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATTACCAATGAACCAACAGG	0.483										HNSCC(5;0.00058)			51	26					0	0	0	0	C	187627830	G	C	187627830	4	2	247	1	0	0	0	0	0	1	0	0	5734	1294	45	2	10718	2	FAT1	4	187627830	Nonsense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	1439548	187627830	3526446	78	44295											
LPCAT1	79888	broad.mit.edu	37	chr5	1489929	1489929	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcctgcgagaatcctGgtctgaccgggacacgaaca	9	10	11	11	3	1	2	0	1	1	1	3	5	3	3	3	2	2	1	3	2	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:1489929G>A	ENST00000283415.3	-	4	670	c.538C>T	c.(538-540)Cag>Tag	p.Q180*		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	180					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CGAGAATCCTGGTCTGACCGG	0.557													20	479					0	0	0	0	A	1489929	G	A	1489929	4	1	247	1	0	0	0	0	0	1	0	0	8974	1357	47	4	1110	4	LPCAT1	5	1489929	Nonsense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08		1489929	179425331	79	44296											
KIAA0947	23379	broad.mit.edu	37	chr5	5463028	5463028	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagttcaggggactctgtttCtgaatgttctagtaaaggaa	11	14	11	5	0	4	1	1	1	3	0	4	3	4	3	0	3	0	4	0	3	6	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:5463028C>G	ENST00000296564.7	+	13	3803	c.3581C>G	c.(3580-3582)tCt>tGt	p.S1194C		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1194										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GACTCTGTTTCTGAATGTTCT	0.378													6	41					0	0	0	0	G	5463028	C	G	5463028	3	3	247	1	0	0	0	0	1	0	0	0	8253	913	32	2	3631	2	KIAA0947	5	5463028	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	3973099	5463028	175452232	80	44297											
DNAH5	1767	broad.mit.edu	37	chr5	13901563	13901563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgggaggctggtttcgaGccagaggaggatcgtatttc	8	10	16	7	3	0	1	0	0	0	1	3	6	0	4	1	5	1	3	1	5	1	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:13901563G>A	ENST00000265104.4	-	14	1954	c.1850C>T	c.(1849-1851)gCt>gTt	p.A617V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	617	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGGTTTCGAGCCAGAGGAGG	0.478									Kartagener syndrome				18	79					0	0	0	0	A	13901563	G	A	13901563	3	1	247	1	0	0	0	0	1	0	0	0	4641	971	34	4	12288	4	DNAH5	5	13901563	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	8438535	13901563	167013697	81	44298											
CDH10	1008	broad.mit.edu	37	chr5	24535254	24535254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgggttgtcattgacatCtgtcagcgtgatgttcacag	7	14	13	7	1	4	2	3	2	1	0	4	2	4	2	0	2	1	2	0	2	0	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:24535254C>T	ENST00000264463.4	-	5	1288	c.781G>A	c.(781-783)Gat>Aat	p.D261N		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	261	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCATTGACATCTGTCAGCGTG	0.478										HNSCC(23;0.051)			8	135					0	0	0	0	T	24535254	C	T	24535254	3	4	247	1	0	0	0	0	1	0	0	0	3125	913	32	2	1617	2	CDH10	5	24535254	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	10633691	24535254	156380006	82	44299											
PDZD2	23037	broad.mit.edu	37	chr5	32037403	32037403	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccaaggggaacttggaaagtCccaaacagggcagcaataaa	17	4	11	9	0	0	0	0	0	0	0	1	2	1	2	2	4	3	2	2	4	7	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:32037403C>G	ENST00000438447.1	+	7	1862	c.1474C>G	c.(1474-1476)Ccc>Gcc	p.P492A	PDZD2_ENST00000282493.3_Missense_Mutation_p.P492A			O15018	PDZD2_HUMAN	PDZ domain containing 2	492					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTTGGAAAGTCCCAAACAGGG	0.522													6	78					0	0	0	0	G	32037403	C	G	32037403	3	3	247	1	0	0	0	0	1	0	0	0	11772	855	30	2	1496	2	PDZD2	5	32037403	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	7502149	32037403	148877857	83	44300											
RANBP3L	202151	broad.mit.edu	37	chr5	36251436	36251436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatccatttttagtgacttGgatgaaatcatcctcattct	10	17	6	8	0	3	3	2	3	1	0	5	4	5	4	2	1	0	0	2	1	2	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:36251436G>T	ENST00000296604.3	-	13	1818	c.1333C>A	c.(1333-1335)Caa>Aaa	p.Q445K	RANBP3L_ENST00000502994.1_Missense_Mutation_p.Q470K	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	445					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TTAGTGACTTGGATGAAATCA	0.353													4	106					8.12818e-05	8.44081e-05	1	0	T	36251436	G	T	36251436	3	4	247	1	0	0	0	0	1	0	0	0	13112	1357	47	4	72	4	RANBP3L	5	36251436	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	4214033	36251436	144663824	84	44301											
NUP155	9631	broad.mit.edu	37	chr5	37371159	37371159	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatccaagaagttagcttaGatccgccgcctagggcgcgc	10	7	12	12	4	0	3	0	0	0	3	2	3	2	3	4	1	1	2	4	1	5	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:37371159G>C	ENST00000231498.3	-	0	124				NUP155_ENST00000513532.1_De_novo_Start_OutOfFrame	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa						carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTTAGCTTAGATCCGCCGCC	0.557													3	27					0	0	0	0	C	37371159	G	C	37371159	1	2	247	1	0	0	0	0	0	0	0	0	10827	957	33	2		2	NUP155	5	37371159	Translation_Start_Site	SNP	G	TCGA-CV-6441-01A-11D-1683-08	1119723	37371159	143544101	85	44302											
C5orf28	64417	broad.mit.edu	37	chr5	43453838	43453838	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccagctaaaatgatttcTccaaagtcagtcttcttctt	12	15	4	10	0	5	1	1	1	4	0	7	1	6	1	2	0	1	1	2	0	4	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:43453838T>A	ENST00000500337.2	-	4	565	c.234A>T	c.(232-234)ggA>ggT	p.G78G	C5orf28_ENST00000510130.1_Intron|C5orf28_ENST00000511525.1_Intron|C5orf28_ENST00000537319.1_Intron|C5orf28_ENST00000397080.3_Silent_p.G78G|C5orf28_ENST00000512085.1_Silent_p.G78G			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	78						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAATGATTTCTCCAAAGTCAG	0.393													33	128					0	0	0	0	A	43453838	T	A	43453838	2	1	247	1	0	0	0	0	0	0	0	1	2310	1538	54	5		5	C5orf28	5	43453838	Silent	SNP	T	TCGA-CV-6441-01A-11D-1683-08	6082679	43453838	137461422	86	44303											
CMYA5	202333	broad.mit.edu	37	chr5	79095241	79095241	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgttcatgtgactgaGcgtccagccagagtgggcat	9	10	14	8	1	1	4	1	3	0	1	2	4	2	4	2	1	2	2	2	1	0	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:79095241G>A	ENST00000446378.2	+	13	12043	c.12012G>A	c.(12010-12012)gaG>gaA	p.E4004E	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	4004	B30.2/SPRY.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGTGACTGAGCGTCCAGCCA	0.443													7	45					0	0	0	0	A	79095241	G	A	79095241	2	1	247	1	0	0	0	0	0	0	0	1	3620	962	34	4		4	CMYA5	5	79095241	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	35641403	79095241	101820019	87	44304											
HAPLN1	1404	broad.mit.edu	37	chr5	82940335	82940335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccatcactgagccagcCggcattgcaccagtccagcc	10	5	10	16	1	1	2	1	1	0	1	2	2	2	2	6	1	5	2	6	1	0	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:82940335C>A	ENST00000274341.4	-	4	1472	c.622G>T	c.(622-624)Ggc>Tgc	p.G208C		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	208	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CTGAGCCAGCCGGCATTGCAC	0.622													46	11					1.41504e-22	1.61434e-22	1	0	A	82940335	C	A	82940335	3	1	247	1	0	0	0	0	1	0	0	0	7004	652	23	3	450	3	HAPLN1	5	82940335	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	3845094	82940335	97974925	88	44305											
LOX	4015	broad.mit.edu	37	chr5	121411146	121411146	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcttggtcggctgggtaaGaaatctgatgtcccttggtt	7	15	12	7	1	2	2	0	1	2	1	4	2	3	2	1	4	0	3	1	4	3	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:121411146G>A	ENST00000231004.4	-	3	1130	c.831C>T	c.(829-831)ttC>ttT	p.F277F	SRFBP1_ENST00000504881.1_3'UTR|LOX_ENST00000513319.1_5'UTR	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	277	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GGCTGGGTAAGAAATCTGATG	0.453													13	75					0	0	0	0	A	121411146	G	A	121411146	2	1	247	1	0	0	0	0	0	0	0	1	8962	933	33	2		2	LOX	5	121411146	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	38470811	121411146	59504114	89	44306											
RAPGEF6	51735	broad.mit.edu	37	chr5	130897699	130897699	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctgaaggctctaatacaAgacaatcacatcctcttttt	12	15	4	10	0	4	2	1	1	3	1	5	2	5	2	1	1	1	1	1	1	5	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:130897699A>T	ENST00000509018.1	-	5	528	c.323T>A	c.(322-324)cTt>cAt	p.L108H	FNIP1_ENST00000514667.1_Missense_Mutation_p.L158H|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.L108H|RAPGEF6_ENST00000503398.2_Intron|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.L108H|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.L108H|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.L108H|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.L108H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	108					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTCTAATACAAGACAATCACA	0.274													63	12					0	0	0	0	T	130897699	A	T	130897699	3	4	247	1	0	0	0	0	1	0	0	0	13130	72	3	5	5064	5	RAPGEF6	5	130897699	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	9486553	130897699	50017561	90	44307											
PCDHA8	56140	broad.mit.edu	37	chr5	140222091	140222091	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatgccccatgtccccttCaagctggtgtccaccttcaa	7	11	7	16	0	2	1	2	1	0	0	4	1	4	1	6	1	2	1	6	1	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:140222091C>G	ENST00000531613.1	+	1	1185	c.1185C>G	c.(1183-1185)ttC>ttG	p.F395L	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.F395L|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTCCCCTTCAAGCTGGTGT	0.577													43	192					0	0	0	0	G	140222091	C	G	140222091	3	3	247	1	0	0	0	0	1	0	0	0	11601	825	29	2	1187	2	PCDHA8	5	140222091	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	9324392	140222091	40693169	91	44308											
HDAC3	8841	broad.mit.edu	37	chr5	141009429	141009429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcacctcctcactcacctCaaacttcttggcatggtgca	9	11	5	16	0	5	0	4	0	1	0	6	0	6	0	3	2	2	2	3	2	1	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:141009429C>T	ENST00000305264.3	-	5	497	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	140	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TCACTCACCTCAAACTTCTTG	0.517													9	50					0	0	0	0	T	141009429	C	T	141009429	3	4	247	1	0	0	0	0	1	0	0	0	7058	835	29	2	912	2	HDAC3	5	141009429	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	787338	141009429	39905831	92	44309											
C5orf54	63920	broad.mit.edu	37	chr5	159821613	159821613	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatgaaatttattaccctCaccacagtaaacagagcatc	15	11	5	10	0	1	3	1	2	0	1	2	3	1	3	2	0	3	2	2	0	5	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:159821613C>G	ENST00000408953.3	-	2	1392	c.885G>C	c.(883-885)gtG>gtC	p.V295V	C5orf54_ENST00000523213.1_Silent_p.V295V	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	295										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ttattaccctcaccacagtaa	0.378													28	92					0	0	0	0	G	159821613	C	G	159821613	2	3	247	1	0	0	0	0	0	0	0	1	2331	813	29	2		2	C5orf54	5	159821613	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	18812184	159821613	21093647	93	44310											
NSD1	64324	broad.mit.edu	37	chr5	176618931	176618931	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaagtatgaagttggagAtctcatctgggcaaaattca	14	11	10	6	0	3	3	2	2	2	1	4	4	3	3	0	2	0	3	0	2	5	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:176618931A>T	ENST00000439151.2	+	3	1019	c.974A>T	c.(973-975)gAt>gTt	p.D325V	NSD1_ENST00000347982.4_Missense_Mutation_p.D56V|NSD1_ENST00000361032.4_Intron|NSD1_ENST00000354179.4_Missense_Mutation_p.D56V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	325	PWWP 1.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAAGTTGGAGATCTCATCTGG	0.388			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			41	16					0	0	0	0	T	176618931	A	T	176618931	3	4	247	1	0	0	0	0	1	0	0	0	10740	333	12	5	980	5	NSD1	5	176618931	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	16797318	176618931	4296329	94	44311											
C6orf195	154386	broad.mit.edu	37	chr6	2623874	2623874	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgacaaggccggacccGggaggggagaggagcctgta	9	3	19	10	3	0	1	0	0	0	1	0	6	0	4	4	6	2	1	4	6	2	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:2623874G>A	ENST00000296847.3	-	3	706	c.183C>T	c.(181-183)ccC>ccT	p.P61P		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	61								p.P61P(2)		cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GGCCGGACCCGGGAGGGGAGA	0.632													46	73					0	0	0	0	A	2623874	G	A	2623874	2	1	247	1	0	0	0	0	0	0	0	1	2371	1103	39	1		1	C6orf195	6	2623874	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08		2623874	168491193	95	44312											
PAK1IP1	55003	broad.mit.edu	37	chr6	10707670	10707670	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaggacatgttcagttttGaaattccagagcatcatgtt	13	14	8	6	0	2	2	2	1	0	1	3	3	3	3	1	1	1	4	1	1	3	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:10707670G>C	ENST00000379568.3	+	8	1054	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	255					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				GTTCAGTTTTGAAATTCCAGA	0.333													22	90					0	0	0	0	C	10707670	G	C	10707670	3	2	247	1	0	0	0	0	1	0	0	0	11471	1291	45	2	793	2	PAK1IP1	6	10707670	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	8083796	10707670	160407397	96	44313											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056153	26056153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgggctcttagccactttCttggttacagtggccgcggc	4	14	12	11	2	2	0	0	0	2	0	2	0	2	0	2	4	2	2	2	4	2	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:26056153C>G	ENST00000343677.2	-	1	546	c.504G>C	c.(502-504)aaG>aaC	p.K168N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	168					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TAGCCACTTTCTTGGTTACAG	0.572													61	27					0	0	0	0	G	26056153	C	G	26056153	3	3	247	1	0	0	0	0	1	0	0	0	7174	912	32	2	141	2	HIST1H1C	6	26056153	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	15348483	26056153	145058914	97	44314											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056548	26056549	+	Frame_Shift_Ins	INS	-	-	A																															agctctgacaccgggggaccINSagacgccttacgaggcgtac																								rs10425	byFrequency	TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:26056548_26056549insA	ENST00000343677.2	-	1	150_151	c.108_109insT	c.(106-111)tcgtccfs	p.S37fs		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	37	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						ACCGGGGGACCAGACGCCTTAC	0.634													39	15	---	---	---	---					A	26056549	-	A	26056548	7	5	247	1	0	1	1	0	0	0	0	0	7174	594	21	0	536	0	HIST1H1C	6	26056548	Frame_Shift_Ins	INS	-	TCGA-CV-6441-01A-11D-1683-08	395	26056548	145058519	98	44315											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114365	27114365	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctcacccgcgatgcgttcGaagatgtcgttgacgaagga	9	8	13	11	6	1	2	1	1	0	1	3	6	1	3	2	1	1	2	2	1	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:27114365G>A	ENST00000396891.4	-	1	254	c.213C>T	c.(211-213)ttC>ttT	p.F71F	HIST1H2BK_ENST00000356950.1_Silent_p.F71F	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	71					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGATGCGTTCGAAGATGTCGT	0.602													86	35					0	0	0	0	A	27114365	G	A	27114365	2	1	247	1	0	0	0	0	0	0	0	1	7200	1049	37	1		1	HIST1H2BK	6	27114365	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	1057817	27114365	144000702	99	44316											
TTBK1	84630	broad.mit.edu	37	chr6	43230556	43230556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatctgcctggctcgccctCgcgccaggcctgctcctctc	2	9	11	19	3	2	0	0	0	2	0	6	1	3	1	5	3	2	2	5	3	0	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:43230556C>T	ENST00000259750.4	+	13	1537	c.1454C>T	c.(1453-1455)tCg>tTg	p.S485L	TTBK1_ENST00000304139.5_Missense_Mutation_p.S434L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	485						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGCTCGCCCTCGCGCCAGGCC	0.677													5	4					0	0	0	0	T	43230556	C	T	43230556	3	4	247	1	0	0	0	0	1	0	0	0	16772	893	31	1	1500	1	TTBK1	6	43230556	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	16116191	43230556	127884511	100	44317											
POPDC3	64208	broad.mit.edu	37	chr6	105606561	105606561	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtagcgatgctgagcaaaGagcagatataatttctttct	13	13	9	6	1	2	3	0	1	2	2	2	4	2	3	0	0	4	4	0	0	4	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:105606561G>A	ENST00000254765.3	-	4	938	c.660C>T	c.(658-660)ctC>ctT	p.L220L	BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	220						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GCTGAGCAAAGAGCAGATATA	0.408													46	89					0	0	0	0	A	105606561	G	A	105606561	2	1	247	1	0	0	0	0	0	0	0	1	12328	929	33	2		2	POPDC3	6	105606561	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	62376005	105606561	65508506	101	44318											
PRDM1	639	broad.mit.edu	37	chr6	106547390	106547390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttgcagaaaggcttcaCtacccttatcccggagagct	10	10	9	12	1	1	2	1	0	0	2	2	4	2	2	2	2	3	3	2	2	3	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:106547390C>G	ENST00000369096.4	+	4	861	c.627C>G	c.(625-627)caC>caG	p.H209Q	PRDM1_ENST00000369091.2_Missense_Mutation_p.H173Q|PRDM1_ENST00000369089.3_Missense_Mutation_p.H75Q	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	209					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAAGGCTTCACTACCCTTATC	0.443			"D, N, Mis, F, S"		DLBCL								16	5					0	0	0	0	G	106547390	C	G	106547390	3	3	247	1	0	0	0	0	1	0	0	0	12530	564	20	4	654	4	PRDM1	6	106547390	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	940829	106547390	64567677	102	44319											
SERAC1	84947	broad.mit.edu	37	chr6	158540196	158540196	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggacatctgctttaatGggctgactaataggggagag	14	9	13	5	0	1	2	0	1	1	1	1	4	1	3	0	4	1	2	0	4	5	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:158540196G>A	ENST00000367102.2	-	12	1314	c.1173C>T	c.(1171-1173)ccC>ccT	p.P391P	SERAC1_ENST00000367104.3_Silent_p.P391P|SERAC1_ENST00000367101.1_Silent_p.P391P			Q96JX3	SRAC1_HUMAN	serine active site containing 1	391					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CTGCTTTAATGGGCTGACTAA	0.423													2	5					0	0	0	0	A	158540196	G	A	158540196	2	1	247	1	0	0	0	0	0	0	0	1	14161	1335	47	4		4	SERAC1	6	158540196	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	51992806	158540196	12574871	103	44320											
QKI	9444	broad.mit.edu	37	chr6	163984469	163984469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcagcccttgccttttctCttgcagcaacagcccaggct	7	11	8	15	0	1	0	0	0	1	0	2	0	1	0	3	1	7	4	3	1	2	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:163984469C>G	ENST00000361752.3	+	6	1203	c.652C>G	c.(652-654)Ctt>Gtt	p.L218V	QKI_ENST00000275262.7_Missense_Mutation_p.L218V|QKI_ENST00000392127.2_Missense_Mutation_p.L218V|QKI_ENST00000453779.2_Missense_Mutation_p.L218V|QKI_ENST00000424802.3_Intron|QKI_ENST00000361195.2_Intron	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	218					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGCCTTTTCTCTTGCAGCAAC	0.498													3	20					0	0	0	0	G	163984469	C	G	163984469	3	3	247	1	0	0	0	0	1	0	0	0	12955	913	32	2	674	2	QKI	6	163984469	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	5444273	163984469	7130598	104	44321											
EIF3B	8662	broad.mit.edu	37	chr7	2412331	2412331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccatcatagcctttgcctggGaaccaaatggaagtaagttt	12	11	9	9	0	1	0	1	0	0	0	1	2	1	2	4	2	3	2	4	2	5	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:2412331G>A	ENST00000360876.4	+	12	1767	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	EIF3B_ENST00000397011.2_Missense_Mutation_p.E571K	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	571					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CTTTGCCTGGGAACCAAATGG	0.438													11	24					0	0	0	0	A	2412331	G	A	2412331	3	1	247	1	0	0	0	0	1	0	0	0	5049	1175	41	2	1757	2	EIF3B	7	2412331	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08		2412331	156726332	105	44322											
LFNG	3955	broad.mit.edu	37	chr7	2566545	2566545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcccttctcggtggaggccGacccatccaggtaaggaaac	9	6	13	13	2	1	0	0	0	1	0	3	3	2	2	4	6	1	1	4	6	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:2566545G>A	ENST00000222725.5	+	7	1083	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	LFNG_ENST00000402506.1_Missense_Mutation_p.D284N|LFNG_ENST00000359574.3_Missense_Mutation_p.D355N|LFNG_ENST00000338732.3_Missense_Mutation_p.D226N|LFNG_ENST00000402045.1_Missense_Mutation_p.D226N	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	355					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GGTGGAGGCCGACCCATCCAG	0.647													5	17					0	0	0	0	A	2566545	G	A	2566545	3	1	247	1	0	0	0	0	1	0	0	0	8790	1058	37	1	1365	1	LFNG	7	2566545	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	154214	2566545	156572118	106	44323											
THSD7A	221981	broad.mit.edu	37	chr7	11676325	11676325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctccctcacctgaatacCttcttcccccttaatgcact	8	14	2	17	0	3	1	1	1	2	0	5	1	4	1	5	0	2	1	5	0	4	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:11676325C>T	ENST00000423059.3	-	2	705	c.454G>A	c.(454-456)Ggt>Agt	p.G152S	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	152						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACCTGAATACCTTCTTCCCCC	0.488										HNSCC(18;0.044)			16	26					0	0	0	0	T	11676325	C	T	11676325	3	4	247	1	0	0	0	0	1	0	0	0	15973	681	24	4	4623	4	THSD7A	7	11676325	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	9109780	11676325	147462338	107	44324											
ABCB5	340273	broad.mit.edu	37	chr7	20739693	20739693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttcagggattattttacGgcagagcaggggaaatttta	11	14	11	5	1	1	1	1	0	0	1	1	3	1	3	0	4	2	2	0	4	4	7			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:20739693G>C	ENST00000404938.2	+	19	2924	c.2272G>C	c.(2272-2274)Ggc>Cgc	p.G758R	ABCB5_ENST00000258738.6_Missense_Mutation_p.G313R	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	313	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATTATTTTACGGCAGAGCAGG	0.303													26	59					0	0	0	0	C	20739693	G	C	20739693	3	2	247	1	0	0	0	0	1	0	0	0	44	1116	39	3	2383	3	ABCB5	7	20739693	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	9063368	20739693	138398970	108	44325											
DNAH11	8701	broad.mit.edu	37	chr7	21678648	21678648	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtctcttctgctgatttaCttgacattctctcaaaagga	9	16	6	10	1	4	2	1	2	3	0	7	3	4	3	0	1	2	1	0	1	3	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:21678648C>G	ENST00000328843.6	+	28	4955	c.4924C>G	c.(4924-4926)Ctt>Gtt	p.L1642V	DNAH11_ENST00000409508.3_Missense_Mutation_p.L1637V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1642	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGCTGATTTACTTGACATTCT	0.398									Kartagener syndrome				9	48					0	0	0	0	G	21678648	C	G	21678648	3	3	247	1	0	0	0	0	1	0	0	0	4636	565	20	4	5034	4	DNAH11	7	21678648	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	938955	21678648	137460015	109	44326											
GLI3	2737	broad.mit.edu	37	chr7	42079708	42079708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacgggaattattgagaatCgtgaccaaggagttgggaga	13	9	14	5	2	0	3	0	2	0	2	1	7	0	5	1	3	1	1	1	3	5	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:42079708C>T	ENST00000395925.3	-	7	1041	c.957G>A	c.(955-957)acG>acA	p.T319T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	319					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TATTGAGAATCGTGACCAAGG	0.468									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				7	52					0	0	0	0	T	42079708	C	T	42079708	2	4	247	1	0	0	0	0	0	0	0	1	6490	871	31	1		1	GLI3	7	42079708	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	20401060	42079708	117058955	110	44327											
POLD2	5425	broad.mit.edu	37	chr7	44157600	44157600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcatggccttgaacagagtgCccaccacacagcacttctcc	10	7	8	16	0	1	2	0	1	1	1	2	2	1	2	4	1	3	2	4	1	1	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:44157600C>T	ENST00000406581.2	-	4	933	c.284G>A	c.(283-285)gGc>gAc	p.G95D	POLD2_ENST00000452185.1_Missense_Mutation_p.G95D|POLD2_ENST00000223361.3_Missense_Mutation_p.G95D	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	95					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GAACAGAGTGCCCACCACACA	0.617													3	59					0	0	0	0	T	44157600	C	T	44157600	3	4	247	1	0	0	0	0	1	0	0	0	12263	739	26	4	1161	4	POLD2	7	44157600	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	2077892	44157600	114981063	111	44328											
TNS3	64759	broad.mit.edu	37	chr7	47476871	47476871	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactctgtacctttgggttaAgcttcgtaaggtcatatctc	9	15	8	9	1	3	0	1	0	2	0	5	0	3	0	1	2	3	4	1	2	5	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:47476871A>G	ENST00000398879.1	-	7	557	c.191T>C	c.(190-192)cTt>cCt	p.L64P	TNS3_ENST00000458317.2_Missense_Mutation_p.L64P|TNS3_ENST00000311160.9_Missense_Mutation_p.L64P|TNS3_ENST00000355730.3_Missense_Mutation_p.L64P|TNS3_ENST00000442536.2_Missense_Mutation_p.L64P			Q68CZ2	TENS3_HUMAN	tensin 3	64	Phosphatase tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTTGGGTTAAGCTTCGTAAG	0.279													21	32					0	0	0	0	G	47476871	A	G	47476871	3	3	247	1	0	0	0	0	1	0	0	0	16438	72	3	5	4246	5	TNS3	7	47476871	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	3319271	47476871	111661792	112	44329											
SUN3	256979	broad.mit.edu	37	chr7	48045610	48045610	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatctcgacttggtcttctCtcaactttttaagtacataa	10	16	4	11	1	4	0	1	0	3	0	6	1	4	0	1	1	2	1	1	1	4	7			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:48045610C>G	ENST00000453192.2	-	7	740	c.497G>C	c.(496-498)aGa>aCa	p.R166T	SUN3_ENST00000395572.2_Missense_Mutation_p.R178T|SUN3_ENST00000412142.1_Missense_Mutation_p.R78T|SUN3_ENST00000297325.4_Missense_Mutation_p.R178T			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	178						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGGTCTTCTCTCAACTTTTT	0.358													7	33					0	0	0	0	G	48045610	C	G	48045610	3	3	247	1	0	0	0	0	1	0	0	0	15483	913	32	2	560	2	SUN3	7	48045610	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	568739	48045610	111093053	113	44330											
POR	5447	broad.mit.edu	37	chr7	75612906	75612907	+	Frame_Shift_Ins	INS	-	-	G																															aagctgaaccagggaaccgaINSgcgccacctcatgcacctgg																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:75612906_75612907insG	ENST00000394893.1	+	9	919_920	c.899_900insG	c.(898-900)gcgfs	p.A300fs	POR_ENST00000439269.1_Frame_Shift_Ins_p.A38fs|POR_ENST00000461988.1_Frame_Shift_Ins_p.A300fs|POR_ENST00000419840.1_Frame_Shift_Ins_p.A114fs|POR_ENST00000450476.1_Frame_Shift_Ins_p.A199fs|POR_ENST00000545601.1_Frame_Shift_Ins_p.A108fs			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	297	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CAGGGAACCGAGCGCCACCTCA	0.599													23	82	---	---	---	---					G	75612907	-	G	75612906	7	5	247	1	0	1	1	0	0	0	0	0	12329	304	11	0	929	0	POR	7	75612906	Frame_Shift_Ins	INS	-	TCGA-CV-6441-01A-11D-1683-08	27567296	75612906	83525757	114	44331											
HGF	3082	broad.mit.edu	37	chr7	81355326	81355326	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttcggcagtaattttctcGtaggtccctattgagaataa	11	15	8	7	2	1	1	0	1	1	1	4	2	2	1	1	2	0	3	1	2	5	8			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:81355326G>A	ENST00000222390.5	-	9	1274	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*	HGF_ENST00000457544.2_Nonsense_Mutation_p.R345*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	350	Kringle 3.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TAATTTTCTCGTAGGTCCCTA	0.418													19	47					0	0	0	0	A	81355326	G	A	81355326	4	1	247	1	0	0	0	0	0	1	0	0	7135	1153	40	1	1178	1	HGF	7	81355326	Nonsense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	5742420	81355326	77783337	115	44332											
VGF	7425	broad.mit.edu	37	chr7	100806475	100806475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctgcagtgtccgcggccgGatgtagttggggaaagggtg	6	8	20	7	3	0	0	0	0	0	0	1	2	1	2	2	6	1	4	2	6	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:100806475G>A	ENST00000249330.2	-	2	1889	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	VGF_ENST00000445482.2_Silent_p.I550I	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	550					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCGCGGCCGGATGTAGTTGG	0.721													7	53					0	0	0	0	A	100806475	G	A	100806475	2	1	247	1	0	0	0	0	0	0	0	1	17253	1164	41	2		2	VGF	7	100806475	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	19451149	100806475	58332188	116	44333											
SLC26A5	375611	broad.mit.edu	37	chr7	103053458	103053458	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcttttacctatggataTgtgtctggaggttccaagaa	11	14	10	6	0	1	1	0	0	1	1	2	3	2	3	2	3	2	2	2	3	6	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:103053458T>G	ENST00000306312.3	-	5	655	c.394A>C	c.(394-396)Ata>Cta	p.I132L	SLC26A5_ENST00000339444.6_Missense_Mutation_p.I132L|SLC26A5_ENST00000393723.1_Missense_Mutation_p.I132L|SLC26A5_ENST00000356767.4_Missense_Mutation_p.I132L|SLC26A5_ENST00000393735.2_Missense_Mutation_p.I132L|SLC26A5_ENST00000393730.1_Missense_Mutation_p.I132L|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393727.1_Missense_Mutation_p.I132L|SLC26A5_ENST00000393729.1_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.I132L	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	132					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CCTATGGATATGTGTCTGGAG	0.373													12	42					0	0	0	0	G	103053458	T	G	103053458	3	3	247	1	0	0	0	0	1	0	0	0	14608	1464	51	5	1945	5	SLC26A5	7	103053458	Missense_Mutation	SNP	T	TCGA-CV-6441-01A-11D-1683-08	2246983	103053458	56085205	117	44334											
PNPLA8	50640	broad.mit.edu	37	chr7	108154982	108154982	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgttcttctgactgactCtttgaatcatactttaattt	8	20	4	9	0	4	3	1	3	3	0	5	3	5	3	1	0	1	1	1	0	3	7			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:108154982C>G	ENST00000426128.2	-	2	1079	c.954G>C	c.(952-954)aaG>aaC	p.K318N	PNPLA8_ENST00000453144.1_Missense_Mutation_p.K218N|PNPLA8_ENST00000388728.5_Missense_Mutation_p.K318N|PNPLA8_ENST00000436062.1_Missense_Mutation_p.K318N|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Missense_Mutation_p.K318N|PNPLA8_ENST00000422087.1_Missense_Mutation_p.K318N	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	318					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CTGACTGACTCTTTGAATCAT	0.413													30	156					0	0	0	0	G	108154982	C	G	108154982	3	3	247	1	0	0	0	0	1	0	0	0	12243	912	32	2	1430	2	PNPLA8	7	108154982	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	5101524	108154982	50983681	118	44335											
C7orf60	154743	broad.mit.edu	37	chr7	112461999	112461999	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgttgaaatcttgaggaaTatataacattcctgggtagt	13	14	9	5	0	1	2	0	2	1	0	2	3	2	3	1	2	1	2	1	2	6	7			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:112461999T>C	ENST00000297145.4	-	5	1183	c.1018A>G	c.(1018-1020)Att>Gtt	p.I340V		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	340										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TCTTGAGGAATATATAACATT	0.353													4	37					0	0	0	0	C	112461999	T	C	112461999	3	2	247	1	0	0	0	0	1	0	0	0	2430	1406	49	5	203	5	C7orf60	7	112461999	Missense_Mutation	SNP	T	TCGA-CV-6441-01A-11D-1683-08	4307017	112461999	46676664	119	44336											
ING3	54556	broad.mit.edu	37	chr7	120613295	120613295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgggatgtgataaccaaGatgtaagtattacatttttc	12	15	10	4	0	0	2	0	1	0	1	1	3	0	3	1	2	2	2	1	2	5	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:120613295G>C	ENST00000315870.5	+	11	1286	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H	ING3_ENST00000431467.1_Missense_Mutation_p.D365H	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	380				Missing (in Ref. 5; CAC48260).	histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					TGATAACCAAGATGTAAGTAT	0.284													15	62					0	0	0	0	C	120613295	G	C	120613295	3	2	247	1	0	0	0	0	1	0	0	0	7790	942	33	2	1196	2	ING3	7	120613295	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	8151296	120613295	38525368	120	44337											
ASB10	136371	broad.mit.edu	37	chr7	150878413	150878413	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgcgggcatcaggacaTgccccccgtcttagaagcag	9	7	12	13	2	2	1	1	0	1	1	2	2	2	2	3	2	3	3	3	2	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:150878413T>C	ENST00000422024.1	-	3	977	c.852A>G	c.(850-852)gcA>gcG	p.A284A	ASB10_ENST00000275838.1_Silent_p.A239A|ASB10_ENST00000377867.3_Silent_p.A224A|ASB10_ENST00000420175.2_Silent_p.A239A|ASB10_ENST00000434669.1_Silent_p.A284A	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	239					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCAGGACATGCCCCCCGTC	0.652													5	15					0	0	0	0	C	150878413	T	C	150878413	2	2	247	1	0	0	0	0	0	0	0	1	1018	1451	51	5		5	ASB10	7	150878413	Silent	SNP	T	TCGA-CV-6441-01A-11D-1683-08	30265118	150878413	8260250	121	44338											
FGF20	26281	broad.mit.edu	37	chr8	16850824	16850824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcattcggaagtaagtttCtcctgaaagagagaagataa	16	10	10	5	1	1	4	0	1	1	3	3	6	1	5	1	1	1	3	1	1	5	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:16850824C>G	ENST00000180166.5	-	3	541	c.393G>C	c.(391-393)gaG>gaC	p.E131D		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	131					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	p.E131E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AAGTAAGTTTCTCCTGAAAGA	0.333													45	132					0	0	0	0	G	16850824	C	G	16850824	3	3	247	1	0	0	0	0	1	0	0	0	5894	912	32	2	246	2	FGF20	8	16850824	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08		16850824	129513198	122	44339											
LPL	4023	broad.mit.edu	37	chr8	19810909	19810909	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgcaggaagtctgaccaAtaagaaagtcaacagaatta	18	8	8	7	0	2	3	1	1	1	2	2	4	2	4	1	1	2	1	1	1	7	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:19810909A>T	ENST00000311322.8	+	4	988	c.518A>T	c.(517-519)aAt>aTt	p.N173I		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	173					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	AGTCTGACCAATAAGAAAGTC	0.413													29	41					0	0	0	0	T	19810909	A	T	19810909	3	4	247	1	0	0	0	0	1	0	0	0	8985	101	4	5	532	5	LPL	8	19810909	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	2960085	19810909	126553113	123	44340											
MCM4	4173	broad.mit.edu	37	chr8	48887407	48887407	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgctaaagtaagattgtcTaacaaagttgaagccattga	16	11	8	6	0	1	3	0	2	1	1	1	3	1	3	1	0	3	3	1	0	6	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:48887407T>A	ENST00000262105.2	+	14	2459	c.2250T>A	c.(2248-2250)tcT>tcA	p.S750S	MCM4_ENST00000523944.1_Silent_p.S750S	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	750					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TAAGATTGTCTAACAAAGTTG	0.498													12	159					0	0	0	0	A	48887407	T	A	48887407	2	1	247	1	0	0	0	0	0	0	0	1	9458	1509	53	5		5	MCM4	8	48887407	Silent	SNP	T	TCGA-CV-6441-01A-11D-1683-08	29076498	48887407	97476615	124	44341											
SNTG1	54212	broad.mit.edu	37	chr8	51705261	51705261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctaatttatttgctgttCttcactgcattcattccttc	6	22	3	10	0	4	0	2	0	2	0	6	0	5	0	1	0	2	3	1	0	2	10			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:51705261C>G	ENST00000522124.1	+	19	2087	c.1426C>G	c.(1426-1428)Ctt>Gtt	p.L476V	SNTG1_ENST00000276467.5_Missense_Mutation_p.L439V|SNTG1_ENST00000517473.1_Missense_Mutation_p.L439V|SNTG1_ENST00000518864.1_Missense_Mutation_p.L476V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	476					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATTTGCTGTTCTTCACTGCAT	0.363													18	101					0	0	0	0	G	51705261	C	G	51705261	3	3	247	1	0	0	0	0	1	0	0	0	14962	913	32	2	1492	2	SNTG1	8	51705261	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	2817854	51705261	94658761	125	44342											
TGS1	96764	broad.mit.edu	37	chr8	56698298	56698298	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaccaggcgacagaagaaGaggaaggtggttattcctgt	13	7	15	6	1	0	4	0	0	0	4	1	7	1	5	2	4	0	1	2	4	4	2	rs139226926	byFrequency	TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:56698298G>C	ENST00000260129.5	+	3	664	c.187G>C	c.(187-189)Gag>Cag	p.E63Q		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	63					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GACAGAAGAAGAGGAAGGTGG	0.408													10	37					0	0	0	0	C	56698298	G	C	56698298	3	2	247	1	0	0	0	0	1	0	0	0	15931	943	33	2	197	2	TGS1	8	56698298	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	4993037	56698298	89665724	126	44343											
FAM110B	90362	broad.mit.edu	37	chr8	59059795	59059795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaatgatgacagtgccaatGaccgcgtgccgtatggcatt	11	9	12	9	3	0	3	0	3	0	0	0	4	0	3	3	1	2	2	3	1	3	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:59059795G>A	ENST00000361488.3	+	5	1886	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	336						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CAGTGCCAATGACCGCGTGCC	0.458													12	13					0	0	0	0	A	59059795	G	A	59059795	3	1	247	1	0	0	0	0	1	0	0	0	5438	1290	45	2	1008	2	FAM110B	8	59059795	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	2361497	59059795	87304227	127	44344											
PAG1	55824	broad.mit.edu	37	chr8	81899630	81899630	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattggtgagtgccccattCtgctcactgctggcaggagc	6	10	12	13	0	2	1	1	1	1	0	2	2	2	2	3	3	4	3	3	3	0	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:81899630C>T	ENST00000220597.4	-	6	959	c.249G>A	c.(247-249)caG>caA	p.Q83Q		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	83					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GTGCCCCATTCTGCTCACTGC	0.458													12	62					0	0	0	0	T	81899630	C	T	81899630	2	4	247	1	0	0	0	0	0	0	0	1	11459	912	32	2		2	PAG1	8	81899630	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	22839835	81899630	64464392	128	44345											
ENY2	56943	broad.mit.edu	37	chr8	110348368	110348368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtccaggttagcaagatGaacaaagatgcgcagatgag	15	7	13	6	1	0	5	0	2	0	3	1	6	1	5	1	1	3	3	1	1	4	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:110348368G>A	ENST00000521688.1	+	2	163	c.18G>A	c.(16-18)atG>atA	p.M6I	ENY2_ENST00000520147.1_Start_Codon_SNP_p.M1I|ENY2_ENST00000522407.1_Intron|ENY2_ENST00000521662.1_Start_Codon_SNP_p.M1I	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog (Drosophila)	6					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			TTAGCAAGATGAACAAAGATG	0.358													8	13					0	0	0	0	A	110348368	G	A	110348368	3	1	247	1	0	0	0	0	1	0	0	0	5184	1290	45	2	24	2	ENY2	8	110348368	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	28448738	110348368	36015654	129	44346											
SYBU	55638	broad.mit.edu	37	chr8	110590243	110590243	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagacatgtaccttccagaAcgcctgaaacaatccaagta	16	7	6	12	1	0	3	0	1	0	2	2	3	2	3	4	0	3	2	4	0	7	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:110590243A>G	ENST00000399066.3	-	5	1456	c.729T>C	c.(727-729)cgT>cgC	p.R243R	SYBU_ENST00000533895.1_Silent_p.R245R|SYBU_ENST00000529175.1_Silent_p.R40R|SYBU_ENST00000533171.1_Silent_p.R246R|SYBU_ENST00000533065.1_Silent_p.R127R|SYBU_ENST00000529690.1_Silent_p.R116R|SYBU_ENST00000532779.1_Silent_p.R178R|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000424158.2_Silent_p.R251R|SYBU_ENST00000446070.2_Silent_p.R245R|SYBU_ENST00000276646.9_Silent_p.R246R|SYBU_ENST00000440310.1_Silent_p.R246R|SYBU_ENST00000408908.2_Silent_p.R246R|SYBU_ENST00000419099.1_Silent_p.R245R|SYBU_ENST00000528647.1_Silent_p.R245R|SYBU_ENST00000433638.1_Silent_p.R246R|SYBU_ENST00000408889.3_Silent_p.R127R|SYBU_ENST00000528331.1_Silent_p.R127R|SYBU_ENST00000422135.1_Silent_p.R246R	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	246	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ACCTTCCAGAACGCCTGAAAC	0.428													30	113					0	0	0	0	G	110590243	A	G	110590243	2	3	247	1	0	0	0	0	0	0	0	1	15517	30	2	5		5	SYBU	8	110590243	Silent	SNP	A	TCGA-CV-6441-01A-11D-1683-08	241875	110590243	35773779	130	44347											
PTPRD	5789	broad.mit.edu	37	chr9	8471058	8471058	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttcccgcgagatttcttCaaaggcacaattattatgta	13	14	6	8	2	2	1	1	0	1	1	3	2	3	1	1	1	0	2	1	1	6	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:8471058C>G	ENST00000381196.4	-	28	3984	c.3441G>C	c.(3439-3441)ttG>ttC	p.L1147F	PTPRD_ENST00000358503.5_Missense_Mutation_p.L1125F|PTPRD_ENST00000397606.3_Missense_Mutation_p.L726F|PTPRD_ENST00000397611.3_Missense_Mutation_p.L733F|PTPRD_ENST00000486161.1_Missense_Mutation_p.L736F|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1147F|PTPRD_ENST00000537002.1_Missense_Mutation_p.L733F|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1134F|PTPRD_ENST00000355233.5_Missense_Mutation_p.L736F|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1147F|PTPRD_ENST00000397617.3_Missense_Mutation_p.L726F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1147					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGATTTCTTCAAAGGCACAA	0.378										TSP Lung(15;0.13)			40	18					0	0	0	0	G	8471058	C	G	8471058	3	3	247	1	0	0	0	0	1	0	0	0	12881	825	29	2	2426	2	PTPRD	9	8471058	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08		8471058	132742373	131	44348											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18753314	18753314	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtgggaaattggcaagtgGagtccatgtagtctcacatg	11	10	14	6	0	1	0	1	0	1	0	3	2	2	2	1	4	0	2	1	4	3	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:18753314G>A	ENST00000380548.4	+	16	2364	c.2025G>A	c.(2023-2025)tgG>tgA	p.W675*		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	675	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGGCAAGTGGAGTCCATGTA	0.488													10	2					0	0	0	0	A	18753314	G	A	18753314	4	1	247	1	0	0	0	0	0	1	0	0	274	1183	41	2	2091	2	ADAMTSL1	9	18753314	Nonsense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	10282256	18753314	122460117	132	44349											
FAM154A	158297	broad.mit.edu	37	chr9	18928327	18928327	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagcttttggtattgataGgcaggtggggcacatagtgg	9	12	15	5	0	0	1	0	1	0	0	0	1	0	1	0	6	2	4	0	6	4	7			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:18928327G>T	ENST00000380534.4	-	4	1427	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.P191H	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	383										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GGTATTGATAGGCAGGTGGGG	0.582													8	33					0.000157383	0.000162914	1	0	T	18928327	G	T	18928327	3	4	247	1	0	0	0	0	1	0	0	0	5504	1000	35	4	280	4	FAM154A	9	18928327	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	175013	18928327	122285104	133	44350											
C9orf131	138724	broad.mit.edu	37	chr9	35044434	35044434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggcctctaagcaccCagcttgtaacttaccccaag	9	9	7	16	0	1	0	0	0	1	0	2	0	2	0	5	1	4	3	5	1	4	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:35044434C>T	ENST00000312292.5	+	2	1855	c.1808C>T	c.(1807-1809)cCa>cTa	p.P603L	C9orf131_ENST00000421362.2_Missense_Mutation_p.P555L|C9orf131_ENST00000354479.5_Missense_Mutation_p.P530L	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	603										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCTAAGCACCCAGCTTGTAAC	0.493													31	101					0	0	0	0	T	35044434	C	T	35044434	3	4	247	1	0	0	0	0	1	0	0	0	2482	594	21	4	1830	4	C9orf131	9	35044434	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	16116107	35044434	106168997	134	44351											
C9orf131	138724	broad.mit.edu	37	chr9	35044709	35044709	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagctcactctctactcctCtaccagagccacacattgac	10	9	4	18	0	3	2	1	1	2	1	5	2	4	2	4	0	4	1	4	0	2	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:35044709C>G	ENST00000312292.5	+	2	2130	c.2083C>G	c.(2083-2085)Cta>Gta	p.L695V	C9orf131_ENST00000421362.2_Missense_Mutation_p.L647V|C9orf131_ENST00000354479.5_Missense_Mutation_p.L622V	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	695										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCTACTCCTCTACCAGAGCC	0.562													13	30					0	0	0	0	G	35044709	C	G	35044709	3	3	247	1	0	0	0	0	1	0	0	0	2482	912	32	2	2105	2	C9orf131	9	35044709	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	275	35044709	106168722	135	44352											
ECM2	1842	broad.mit.edu	37	chr9	95256393	95256393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggaaaggccacatctgatCtgtttgtcactgtctctaga	10	12	10	9	0	4	2	1	1	3	1	5	4	4	3	1	2	0	1	1	2	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:95256393C>T	ENST00000444490.2	-	10	1970	c.1904G>A	c.(1903-1905)aGa>aAa	p.R635K	CENPP_ENST00000375587.3_Intron	NM_001197296.1	NP_001184225.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	0					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						CACATCTGATCTGTTTGTCAC	0.413													11	60					0	0	0	0	T	95256393	C	T	95256393	3	4	247	1	0	0	0	0	1	0	0	0	4934	928	32	2		2	ECM2	9	95256393	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	60211684	95256393	45957038	136	44353											
PAEP	5047	broad.mit.edu	37	chr9	138454276	138454276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggagatcgttctgcacaGatggtgggtttctcatcatt	7	14	11	9	1	3	2	2	0	2	2	5	3	3	2	1	3	1	3	1	3	0	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:138454276G>A	ENST00000479141.1	+	2	277	c.233G>A	c.(232-234)aGa>aAa	p.R78K	PAEP_ENST00000277508.5_Missense_Mutation_p.R78K|PAEP_ENST00000371766.2_Missense_Mutation_p.R78K	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	78					multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GTTCTGCACAGATGGTGGGTT	0.622													11	80					0	0	0	0	A	138454276	G	A	138454276	3	1	247	1	0	0	0	0	1	0	0	0	11453	942	33	2	239	2	PAEP	9	138454276	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	43197883	138454276	2759155	137	44354											
C9orf173	441476	broad.mit.edu	37	chr9	140145786	140145788	+	In_Frame_Del	DEL	CAT	CAT	-																															aaattcctggcaaatttttaCatcaatggaggcaaacactg																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:140145786_140145788delCAT	ENST00000388931.3	+	1	74_76	c.48_50delCAT	c.(46-51)tac>ta	p.YI16del	C9orf173_ENST00000412566.1_In_Frame_Del_p.YI16del	NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1	NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1	Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	16										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						CAAATTTTTACATCAATGGAGGC	0.567													138	40	---	---	---	---					-	140145788	CAT	-	140145786	7	5	247	1	0	1	0	1	0	0	0	0	2497	489	17	0	50	0	C9orf173	9	140145786	In_Frame_Del	DEL	CAT	TCGA-CV-6441-01A-11D-1683-08	1691510	140145786	1067645	138	44355											
DIP2C	22982	broad.mit.edu	37	chr10	329222	329222	+	Frame_Shift_Del	DEL	A	A	-																															ggactctcacctccatttgcAtctgtgagctcagttctccg																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:329222delA	ENST00000280886.6	-	35	4371	c.4284delT	c.(4282-4284)gafs	p.D1428fs		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1428						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTCCATTTGCATCTGTGAGCT	0.547													12	99	---	---	---	---					-	329222	A	-	329222	7	5	247	1	0	1	0	1	0	0	0	0	4566	214	8	0	398	0	DIP2C	10	329222	Frame_Shift_Del	DEL	A	TCGA-CV-6441-01A-11D-1683-08		329222	135205525	139	44356											
CUBN	8029	broad.mit.edu	37	chr10	17147564	17147564	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggagacacgtgcagagAggtaaggaacctgttcagaa	13	5	14	9	2	1	3	1	0	0	3	1	6	1	4	2	3	2	3	2	3	3	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:17147564A>T	ENST00000377833.4	-	11	1187	c.1122T>A	c.(1120-1122)ccT>ccA	p.P374P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	374	EGF-like 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACGTGCAGAGAGGTAAGGAAC	0.443													19	28					0	0	0	0	T	17147564	A	T	17147564	2	4	247	1	0	0	0	0	0	0	0	1	4083	291	11	5		5	CUBN	10	17147564	Silent	SNP	A	TCGA-CV-6441-01A-11D-1683-08	16818342	17147564	118387183	140	44357											
VIM	7431	broad.mit.edu	37	chr10	17278348	17278348	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcaaaaaggacacttctGattaagacggttgaaactag	16	9	8	8	1	2	3	1	2	1	1	2	4	2	4	0	2	1	1	0	2	5	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:17278348G>A	ENST00000544301.1	+	9	1742	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L	VIM_ENST00000224237.5_Silent_p.L443L	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	443	Tail.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGACACTTCTGATTAAGACGG	0.348													63	117					0	0	0	0	A	17278348	G	A	17278348	2	1	247	1	0	0	0	0	0	0	0	1	17262	1277	45	2		2	VIM	10	17278348	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	130784	17278348	118256399	141	44358											
ENKUR	219670	broad.mit.edu	37	chr10	25284722	25284722	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttataaaattttttccactCtgtattcccatgacaggatg	11	17	5	8	0	1	1	0	1	1	0	3	2	3	2	2	1	0	1	2	1	4	8			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:25284722C>T	ENST00000331161.4	-	3	519	c.300G>A	c.(298-300)caG>caA	p.Q100Q	ENKUR_ENST00000376363.1_Silent_p.Q100Q	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	100						cilium|flagellum	calmodulin binding|SH3 domain binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTTTTCCACTCTGTATTCCCA	0.358													27	94					0	0	0	0	T	25284722	C	T	25284722	2	4	247	1	0	0	0	0	0	0	0	1	5158	912	32	2		2	ENKUR	10	25284722	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	8006374	25284722	110250025	142	44359											
ZNF239	8187	broad.mit.edu	37	chr10	44052584	44052584	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacactcatagggcttctctCcagtgtggactcgctggtgg	6	11	12	12	1	2	0	1	0	1	0	5	1	3	1	1	4	0	2	1	4	1	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:44052584C>G	ENST00000306006.6	-	2	1596	c.944G>C	c.(943-945)gGa>gCa	p.G315A	ZNF239_ENST00000374446.2_Missense_Mutation_p.G315A|ZNF239_ENST00000535642.1_Missense_Mutation_p.G315A|ZNF239_ENST00000426961.1_Missense_Mutation_p.G315A	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGGCTTCTCTCCAGTGTGGAC	0.522													15	68					0	0	0	0	G	44052584	C	G	44052584	3	3	247	1	0	0	0	0	1	0	0	0	17886	855	30	2	436	2	ZNF239	10	44052584	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	18767862	44052584	91482163	143	44360											
JMJD1C	221037	broad.mit.edu	37	chr10	64968896	64968896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aattttaagaggccgatgagGctctgcactggaaggtctga	11	10	13	7	1	2	3	0	2	2	1	2	5	2	4	1	4	1	2	1	4	3	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:64968896G>T	ENST00000399262.2	-	9	3012	c.2794C>A	c.(2794-2796)Cct>Act	p.P932T	JMJD1C_ENST00000399251.1_Missense_Mutation_p.P713T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P750T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P713T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	932					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGCCGATGAGGCTCTGCACTG	0.443													57	44					2.2129e-31	2.56064e-31	1	0	T	64968896	G	T	64968896	3	4	247	1	0	0	0	0	1	0	0	0	8003	1203	42	4	4900	4	JMJD1C	10	64968896	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	20916312	64968896	70565851	144	44361											
POLR3A	11128	broad.mit.edu	37	chr10	79764570	79764570	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttcttgtagccggcattCagcaactcatacttggcctt	8	14	7	12	1	3	0	2	0	1	0	3	0	3	0	2	2	4	3	2	2	3	7			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:79764570C>T	ENST00000372371.3	-	16	2288	c.2151G>A	c.(2149-2151)ctG>ctA	p.L717L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	717					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGCCGGCATTCAGCAACTCAT	0.542													8	40					0	0	0	0	T	79764570	C	T	79764570	2	4	247	1	0	0	0	0	0	0	0	1	12300	813	29	2		2	POLR3A	10	79764570	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	14795674	79764570	55770177	145	44362											
HTR7	3363	broad.mit.edu	37	chr10	92508597	92508597	+	Splice_Site	SNP	G	G	A																															tagtgataaatgaccttacaGcacaaactcaggtctctctg																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:92508597G>A	ENST00000371721.3	-	2	1536	c.1295_splice	c.e2+1	p.L432_splice	HTR7_ENST00000277874.6_Splice_Site_p.L432_splice|HTR7_ENST00000336152.3_Splice_Site_p.L432_splice|HTR7_ENST00000371719.2_Silent_p.L432L			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	432					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TGACCTTACAGCACAAACTCA	0.483													45	108					0	0	0	0	A	92508597	G	A	92508597	5	1	247	1	0	0	0	0	0	0	1	0	7505	985	34	4	161	4	HTR7	10	92508597	Splice_Site	SNP	G	TCGA-CV-6441-01A-11D-1683-08	12744027	92508597	43026150	146	44363	339	2									
HTR7	3363	broad.mit.edu	37	chr10	92508598	92508598	+	Silent	SNP	C	C	A																															agtgataaatgaccttacagCacaaactcaggtctctctgg																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:92508598C>A	ENST00000371721.3	-	2	1535	c.1293G>T	c.(1291-1293)gtG>gtT	p.V431V	HTR7_ENST00000277874.6_Silent_p.V431V|HTR7_ENST00000336152.3_Silent_p.V431V|HTR7_ENST00000371719.2_Silent_p.V431V			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	431					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GACCTTACAGCACAAACTCAG	0.483													47	110					1.02687e-29	1.184e-29	1	0	A	92508598	C	A	92508598	2	1	247	1	0	0	0	0	0	0	0	1	7505	697	25	4		4	HTR7	10	92508598	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	1	92508598	43026149	147	44364	339	2									
PLCE1	51196	broad.mit.edu	37	chr10	95892095	95892095	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtgagtatcgcgccaccctCcaaaggacttcaatatcgca	11	9	8	13	3	1	1	1	1	0	0	4	2	2	2	3	1	0	2	3	1	4	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:95892095C>G	ENST00000260766.3	+	3	2005	c.1371C>G	c.(1369-1371)ctC>ctG	p.L457L	PLCE1_ENST00000371380.2_Silent_p.L457L|PLCE1_ENST00000371375.1_Silent_p.L149L|PLCE1_ENST00000371385.3_Silent_p.L149L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	457					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCGCCACCCTCCAAAGGACTT	0.517													65	64					0	0	0	0	G	95892095	C	G	95892095	2	3	247	1	0	0	0	0	0	0	0	1	12106	842	30	2		2	PLCE1	10	95892095	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	3383497	95892095	39642652	148	44365											
KNDC1	85442	broad.mit.edu	37	chr10	135020757	135020757	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggacgagtcctcctcgctCatcttctacaacgtcaacaa	10	10	6	15	3	4	0	2	0	2	0	7	2	6	1	2	1	3	1	2	1	4	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:135020757C>T	ENST00000304613.3	+	20	3717	c.3696C>T	c.(3694-3696)ctC>ctT	p.L1232L	KNDC1_ENST00000368572.2_Silent_p.L1234L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1232					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTCCTCGCTCATCTTCTACA	0.677													12	60					0	0	0	0	T	135020757	C	T	135020757	2	4	247	1	0	0	0	0	0	0	0	1	8478	813	29	2		2	KNDC1	10	135020757	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	39128662	135020757	513990	149	44366											
OR51G1	79324	broad.mit.edu	37	chr11	4944942	4944942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgagcagggagtccacacCcacggtgcaggccacaacaa	13	3	12	13	1	0	1	0	1	0	0	1	3	1	2	3	3	3	2	3	3	2	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:4944942C>T	ENST00000321961.2	-	1	695	c.628G>A	c.(628-630)Ggt>Agt	p.G210S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGTCCACACCCACGGTGCAG	0.552													8	28					0	0	0	0	T	4944942	C	T	4944942	3	4	247	1	0	0	0	0	1	0	0	0	11169	623	22	4	339	4	OR51G1	11	4944942	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08		4944942	130061574	150	44367											
ELP4	26610	broad.mit.edu	37	chr11	31625408	31625408	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcttcaaattggcatggaTtttttcttccagagaaaata	13	14	8	6	0	2	1	1	0	1	1	3	3	3	2	1	3	0	2	1	3	4	7			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:31625408T>G	ENST00000395934.2	+	5	614	c.607T>G	c.(607-609)Ttt>Gtt	p.F203V	ELP4_ENST00000379163.5_Missense_Mutation_p.F204V|ELP4_ENST00000350638.5_Missense_Mutation_p.F203V			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	203					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TTGGCATGGATTTTTTCTTCC	0.328													21	58					0	0	0	0	G	31625408	T	G	31625408	3	3	247	1	0	0	0	0	1	0	0	0	5120	1493	52	5	625	5	ELP4	11	31625408	Missense_Mutation	SNP	T	TCGA-CV-6441-01A-11D-1683-08	26680466	31625408	103381108	151	44368											
OR8H2	390151	broad.mit.edu	37	chr11	55872567	55872567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctgacttcatccttatgGgactgacactttctgaagag	9	13	10	9	0	2	4	1	3	1	1	3	5	3	5	1	2	0	1	1	2	2	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:55872567G>A	ENST00000313503.1	+	1	49	c.49G>A	c.(49-51)Gga>Aga	p.G17R		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G17I(1)|p.G17*(1)|p.G17R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CATCCTTATGGGACTGACACT	0.423										HNSCC(53;0.14)			28	124					0	0	0	0	A	55872567	G	A	55872567	3	1	247	1	0	0	0	0	1	0	0	0	11309	1233	43	4	51	4	OR8H2	11	55872567	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	24247159	55872567	79133949	152	44369											
SSRP1	6749	broad.mit.edu	37	chr11	57100270	57100270	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagctcccggaagatgcaGatggcatctcccgtggcctg	7	8	13	13	2	1	2	0	0	1	2	3	3	2	3	3	3	3	4	3	3	1	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:57100270G>A	ENST00000278412.2	-	6	863	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	199					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GGAAGATGCAGATGGCATCTC	0.537													8	32					0	0	0	0	A	57100270	G	A	57100270	2	1	247	1	0	0	0	0	0	0	0	1	15284	932	33	2		2	SSRP1	11	57100270	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	1227703	57100270	77906246	153	44370											
TMEM109	79073	broad.mit.edu	37	chr11	60689394	60689394	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcggatcctgtggggcctGaagcttgtcatcttcctggc	4	11	15	11	1	2	1	1	1	1	0	4	2	4	2	3	5	1	1	3	5	1	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:60689394G>C	ENST00000227525.3	+	4	892	c.489G>C	c.(487-489)ctG>ctC	p.L163L	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Silent_p.L163L	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	163						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TGTGGGGCCTGAAGCTTGTCA	0.652													25	88					0	0	0	0	C	60689394	G	C	60689394	2	2	247	1	0	0	0	0	0	0	0	1	16119	1277	45	2		2	TMEM109	11	60689394	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	3589124	60689394	74317122	154	44371											
STIP1	10963	broad.mit.edu	37	chr11	63965417	63965417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctctggcagagcaccgaAccccagatgtgctcaagaaa	13	6	10	12	1	2	3	1	0	1	3	3	4	2	3	3	1	3	3	3	1	3	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:63965417A>G	ENST00000358794.5	+	8	1688	c.1135A>G	c.(1135-1137)Acc>Gcc	p.T379A	STIP1_ENST00000305218.4_Missense_Mutation_p.T332A|STIP1_ENST00000538945.1_Missense_Mutation_p.T308A			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	332					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AGAGCACCGAACCCCAGATGT	0.403													5	155					0	0	0	0	G	63965417	A	G	63965417	3	3	247	1	0	0	0	0	1	0	0	0	15375	43	2	5	1024	5	STIP1	11	63965417	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	3276023	63965417	71041099	155	44372											
EHD1	10938	broad.mit.edu	37	chr11	64645866	64645866	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcgtacagctgccgcagcCcctcagccaccgtctggaag	7	5	12	17	4	2	0	1	0	1	0	2	1	2	1	5	1	5	3	5	1	2	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:64645866C>A	ENST00000320631.3	-	1	325	c.71G>T	c.(70-72)gGg>gTg	p.G24V	EHD1_ENST00000359393.2_Missense_Mutation_p.G24V	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	24					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTGCCGCAGCCCCTCAGCCAC	0.662													16	19					2.89027e-11	3.13193e-11	1	0	A	64645866	C	A	64645866	3	1	247	1	0	0	0	0	1	0	0	0	5013	623	22	4	1553	4	EHD1	11	64645866	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	680449	64645866	70360650	156	44373											
DPP3	10072	broad.mit.edu	37	chr11	66272197	66272197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagggacacggtgctgctgCgtaaggaatctcggaagctc	9	8	14	10	3	2	0	1	0	1	0	4	3	2	3	0	4	4	4	0	4	3	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:66272197C>T	ENST00000532677.1	+	17	2451	c.2050C>T	c.(2050-2052)Cgt>Tgt	p.R684C	DPP3_ENST00000453114.1_Missense_Mutation_p.R665C|DPP3_ENST00000360510.2_Missense_Mutation_p.R665C|DPP3_ENST00000541961.1_Missense_Mutation_p.R665C|DPP3_ENST00000531863.1_Missense_Mutation_p.R685C|DPP3_ENST00000530165.1_Missense_Mutation_p.R635C	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	665					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GGTGCTGCTGCGTAAGGAATC	0.592													19	71					0	0	0	0	T	66272197	C	T	66272197	3	4	247	1	0	0	0	0	1	0	0	0	4764	768	27	1	2055	1	DPP3	11	66272197	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	1626331	66272197	68734319	157	44374											
CCND1	595	broad.mit.edu	37	chr11	69466006	69466006	+	Missense_Mutation	SNP	G	G	C																															aagaggaggaggaggaggtgGacctggcttgcacacccacc																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:69466006G>C	ENST00000227507.2	+	5	1071	c.844G>C	c.(844-846)Gac>Cac	p.D282H		NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	282					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	ggaggaggtggaCCTGGCTTG	0.711			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)			8	4					0	0	0	0	C	69466006	G	C	69466006	3	2	247	1	0	0	0	0	1	0	0	0	2945	1174	41	2	862	2	CCND1	11	69466006	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	3193809	69466006	65540510	158	44375	340	2									
CCND1	595	broad.mit.edu	37	chr11	69466013	69466021	+	In_Frame_Del	DEL	CTTGCACAC	CTTGCACAC	-																															ggaggaggaggtggacctggCttgcacacccaccgacgtgc																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:69466013_69466021delCTTGCACAC	ENST00000227507.2	+	5	1078_1086	c.851_859delCTTGCACAC	c.(850-861)gcc>g	p.ACTP284del		NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	284					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	p.T286I(4)|p.P287S(2)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	gtggaCCTGGCTTGCACACCCACCGACGT	0.708			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)			6	7	---	---	---	---					-	69466021	CTTGCACAC	-	69466013	7	5	247	1	0	1	0	1	0	0	0	0	2945	797	28	0	869	0	CCND1	11	69466013	In_Frame_Del	DEL	CTTGCACAC	TCGA-CV-6441-01A-11D-1683-08	7	69466013	65540503	159	44376	340	2									
ZNF202	7753	broad.mit.edu	37	chr11	123601372	123601372	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtccgcctctctggtctCagccactggtgacaaagttc	6	13	9	13	1	2	1	1	1	2	0	6	1	3	1	3	2	1	1	3	2	1	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:123601372C>T	ENST00000336139.4	-	3	587	c.225G>A	c.(223-225)ctG>ctA	p.L75L	ZNF202_ENST00000529691.1_Silent_p.L75L|ZNF202_ENST00000530393.1_Silent_p.L75L			O95125	ZN202_HUMAN	zinc finger protein 202	75	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCTCTGGTCTCAGCCACTGGT	0.562													19	48					0	0	0	0	T	123601372	C	T	123601372	2	4	247	1	0	0	0	0	0	0	0	1	17858	813	29	2		2	ZNF202	11	123601372	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	54135359	123601372	11405144	160	44377											
ST3GAL4	6484	broad.mit.edu	37	chr11	126276890	126276890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtgcctccagggtgaggcaGagagcaaggcctctaagctc	9	6	14	12	1	1	2	0	1	1	1	3	3	2	2	3	3	3	3	3	3	2	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:126276890G>A	ENST00000526727.1	+	3	528	c.154G>A	c.(154-156)Gag>Aag	p.E52K	ST3GAL4_ENST00000530591.1_Missense_Mutation_p.E48K|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.E47K|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.E52K|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.E41K|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.E52K|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.E52K|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.E52K|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.E48K|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.E51K			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	52					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GGGTGAGGCAGAGAGCAAGGC	0.542													15	49					0	0	0	0	A	126276890	G	A	126276890	3	1	247	1	0	0	0	0	1	0	0	0	15307	943	33	2	152	2	ST3GAL4	11	126276890	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	2675518	126276890	8729626	161	44378											
IGSF9B	22997	broad.mit.edu	37	chr11	133790784	133790784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggcctgtggcctgaagccGaccttccaggccaccggggc	5	6	14	16	2	0	1	0	1	0	0	1	2	1	1	7	5	1	0	7	5	1	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:133790784G>C	ENST00000321016.8	-	18	3066	c.2836C>G	c.(2836-2838)Cgg>Ggg	p.R946G	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R946G			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	946	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCTGAAGCCGACCTTCCAGG	0.697													14	25					0	0	0	0	C	133790784	G	C	133790784	3	2	247	1	0	0	0	0	1	0	0	0	7659	1057	37	3	1221	3	IGSF9B	11	133790784	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	7513894	133790784	1215732	162	44379											
C12orf4	57102	broad.mit.edu	37	chr12	4643433	4643433	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcataatcgctgagggattCttcttctataaactgagtca	12	14	7	8	1	5	2	2	2	3	0	6	3	5	3	0	1	1	1	0	1	4	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:4643433C>G	ENST00000261250.3	-	3	301	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q	C12orf4_ENST00000545746.1_Missense_Mutation_p.E72Q	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	72										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CTGAGGGATTCTTCTTCTATA	0.423													11	32					0	0	0	0	G	4643433	C	G	4643433	3	3	247	1	0	0	0	0	1	0	0	0	1697	922	32	2	1492	2	C12orf4	12	4643433	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08		4643433	129208462	163	44380											
DNM1L	10059	broad.mit.edu	37	chr12	32890803	32890803	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattttttgcctttagtcttCtaaagttccaagtgctttgg	7	19	8	7	0	2	0	0	0	2	0	3	1	3	0	2	1	2	2	2	1	4	9			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:32890803C>G	ENST00000381000.4	+	16	1681	c.1640C>G	c.(1639-1641)tCt>tGt	p.S547C	DNM1L_ENST00000553257.1_Missense_Mutation_p.S547C|DNM1L_ENST00000547312.1_Missense_Mutation_p.S534C|DNM1L_ENST00000452533.2_Intron|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Missense_Mutation_p.S331C|DNM1L_ENST00000549701.1_Missense_Mutation_p.S534C|DNM1L_ENST00000266481.6_Intron|DNM1L_ENST00000358214.5_Intron	NM_001278463.1|NM_001278465.1	NP_001265392.1|NP_001265394.1	O00429	DNM1L_HUMAN	dynamin 1-like	534	B domain.|Interaction with GSK3B.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTTTAGTCTTCTAAAGTTCCA	0.433													10	39					0	0	0	0	G	32890803	C	G	32890803	3	3	247	1	0	0	0	0	1	0	0	0	4707	913	32	2	1659	2	DNM1L	12	32890803	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	28247370	32890803	100961092	164	44381											
AQP6	363	broad.mit.edu	37	chr12	50367243	50367243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcgtaggctcccacatctCtctgccccgtgctgtggcct	3	11	9	18	2	2	0	0	0	2	0	5	0	3	0	5	2	2	3	5	2	1	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:50367243C>G	ENST00000315520.5	+	1	624	c.287C>G	c.(286-288)tCt>tGt	p.S96C	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	96					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						TCCCACATCTCTCTGCCCCGT	0.677													15	37					0	0	0	0	G	50367243	C	G	50367243	3	3	247	1	0	0	0	0	1	0	0	0	832	913	32	2	289	2	AQP6	12	50367243	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	17476440	50367243	83484652	165	44382											
KRT6A	3853	broad.mit.edu	37	chr12	52884660	52884660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgcatcatacaaggctctCaggaagttgatctcgtctgt	10	12	9	10	1	4	1	2	1	3	0	6	2	4	2	0	2	2	3	0	2	3	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:52884660C>T	ENST00000330722.6	-	4	962	c.894G>A	c.(892-894)ctG>ctA	p.L298L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	298	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACAAGGCTCTCAGGAAGTTGA	0.488													13	79					0	0	0	0	T	52884660	C	T	52884660	2	4	247	1	0	0	0	0	0	0	0	1	8532	813	29	2		2	KRT6A	12	52884660	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	2517417	52884660	80967235	166	44383											
RARG	5916	broad.mit.edu	37	chr12	53608326	53608338	+	Frame_Shift_Del	DEL	ATAGCTGTCAGGT	ATAGCTGTCAGGT	-																															tctaactgagggctcagctcAtagctgtcaggtgacccttc																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:53608326_53608338delATAGCTGTCAGGT	ENST00000425354.2	-	6	1015_1027	c.528_540delACCTGACAGCTAT	c.(526-540)tcfs	p.SPDSY176fs	RARG_ENST00000338561.5_Frame_Shift_Del_p.SPDSY165fs|RARG_ENST00000543726.1_Frame_Shift_Del_p.SPDSY154fs|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Frame_Shift_Del_p.SPDSY104fs|RARG_ENST00000394426.1_Frame_Shift_Del_p.SPDSY176fs	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	176	Hinge.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGCTCAGCTCATAGCTGTCAGGTGACCCTTCTT	0.559													9	48	---	---	---	---					-	53608338	ATAGCTGTCAGGT	-	53608326	7	5	247	1	0	1	0	1	0	0	0	0	13136	224	8	0	844	0	RARG	12	53608326	Frame_Shift_Del	DEL	ATAGCTGTCAGGT	TCGA-CV-6441-01A-11D-1683-08	723666	53608326	80243569	167	44384											
OR6C4	341418	broad.mit.edu	37	chr12	55945429	55945429	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgagcagcagagtctgcaTacaactagtgttctgctcct	10	12	9	10	0	2	2	0	1	2	1	3	2	3	2	1	0	6	5	1	0	4	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:55945429T>C	ENST00000394256.2	+	1	447	c.419T>C	c.(418-420)aTa>aCa	p.I140T	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AGAGTCTGCATACAACTAGTG	0.468													13	107					0	0	0	0	C	55945429	T	C	55945429	3	2	247	1	0	0	0	0	1	0	0	0	11264	1406	49	5	421	5	OR6C4	12	55945429	Missense_Mutation	SNP	T	TCGA-CV-6441-01A-11D-1683-08	2337103	55945429	77906466	168	44385											
DPY19L2	283417	broad.mit.edu	37	chr12	64055144	64055144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctggataaagatggaagcGttttattgcattaattataa	14	15	8	4	1	1	1	0	0	1	1	1	3	1	3	0	2	2	2	0	2	7	7	rs140337663		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:64055144G>A	ENST00000324472.4	-	4	751	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	190					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AGATGGAAGCGTTTTATTGCA	0.333													21	69					0	0	0	0	A	64055144	G	A	64055144	3	1	247	1	0	0	0	0	1	0	0	0	4777	1145	40	1	1784	1	DPY19L2	12	64055144	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	8109715	64055144	69796751	169	44386											
RAP1B	5908	broad.mit.edu	37	chr12	69042549	69042549	+	Frame_Shift_Del	DEL	A	A	-																															cttggctcaggaggcgttggAaagtctgctttggtaagtca																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:69042549delA	ENST00000250559.9	+	2	276	c.45delA	c.(43-45)ggfs	p.G15fs	RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000541216.1_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000537460.1_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000543697.1_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000542145.1_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000540209.1_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000539091.1_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000450214.2_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000341355.5_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000393436.5_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000378985.3_Intron	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	15					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		GAGGCGTTGGAAAGTCTGCTT	0.363													13	33	---	---	---	---					-	69042549	A	-	69042549	7	5	247	1	0	1	0	1	0	0	0	0	13118	233	9	0	47	0	RAP1B	12	69042549	Frame_Shift_Del	DEL	A	TCGA-CV-6441-01A-11D-1683-08	4987405	69042549	64809346	170	44387											
ANKS1B	56899	broad.mit.edu	37	chr12	99640336	99640336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactcctggttgatcttgtgCcaacaatggtatggttttcg	7	15	10	9	1	1	1	0	1	1	0	3	1	2	1	2	3	2	3	2	3	3	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:99640336C>A	ENST00000547776.2	-	13	2062	c.2063G>T	c.(2062-2064)gGc>gTc	p.G688V	ANKS1B_ENST00000547010.1_Missense_Mutation_p.G268V|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G688V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	688						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.G688D(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGATCTTGTGCCAACAATGGT	0.433													8	38					0.00307968	0.00313779	1	0	A	99640336	C	A	99640336	3	1	247	1	0	0	0	0	1	0	0	0	688	739	26	4	2027	4	ANKS1B	12	99640336	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	30597787	99640336	34211559	171	44388											
BRAP	8315	broad.mit.edu	37	chr12	112097072	112097072	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatacgtgtgctgcgtttcCtcaaagtgcttataagcatg	9	13	10	9	2	1	0	1	0	0	0	2	0	2	0	1	0	5	5	1	0	4	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:112097072C>T	ENST00000419234.4	-	8	1243	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	BRAP_ENST00000327551.6_Silent_p.E320E|BRAP_ENST00000539060.1_Silent_p.E171E	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	350					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						GCTGCGTTTCCTCAAAGTGCT	0.448													9	69					0	0	0	0	T	112097072	C	T	112097072	2	4	247	1	0	0	0	0	0	0	0	1	1505	680	24	4		4	BRAP	12	112097072	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	12456736	112097072	21754823	172	44389											
TESC	54997	broad.mit.edu	37	chr12	117479755	117479755	+	Frame_Shift_Del	DEL	C	C	-																															acgcccaggccacccaccttCaggaagtcctcgaaggtgat																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:117479755delC	ENST00000335209.7	-	7	750	c.564delG	c.(562-564)ctfs	p.L188fs	TESC_ENST00000541210.1_Frame_Shift_Del_p.L161fs|TESC_ENST00000392545.4_Frame_Shift_Del_p.L241fs			Q96BS2	TESC_HUMAN	tescalcin	188					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CACCCACCTTCAGGAAGTCCT	0.632													2	4	---	---	---	---					-	117479755	C	-	117479755	7	5	247	1	0	1	0	1	0	0	0	0	15860	813	29	0	88	0	TESC	12	117479755	Frame_Shift_Del	DEL	C	TCGA-CV-6441-01A-11D-1683-08	5382683	117479755	16372140	173	44390											
WDR66	144406	broad.mit.edu	37	chr12	122413157	122413157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttgttgttccagtgtcctgGaggcagcggtttctcttggg	3	15	15	8	1	1	0	0	0	1	0	4	1	3	1	2	4	1	5	2	4	0	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:122413157G>A	ENST00000288912.4	+	18	3633	c.2779G>A	c.(2779-2781)Gag>Aag	p.E927K		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	927							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAGTGTCCTGGAGGCAGCGGT	0.527													11	39					0	0	0	0	A	122413157	G	A	122413157	3	1	247	1	0	0	0	0	1	0	0	0	17413	1175	41	2	2904	2	WDR66	12	122413157	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	4933402	122413157	11438738	174	44391											
NCOR2	9612	broad.mit.edu	37	chr12	124812114	124812114	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagtgcctttctaattaTggcctccagccccatgttgg	7	13	9	12	0	1	1	0	1	1	0	2	1	2	1	5	2	2	1	5	2	2	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:124812114T>C	ENST00000356219.3	-	46	7200	c.7045A>G	c.(7045-7047)Ata>Gta	p.I2349V	NCOR2_ENST00000429285.2_Missense_Mutation_p.I2332V|NCOR2_ENST00000405201.1_Missense_Mutation_p.I2342V|NCOR2_ENST00000404121.2_Missense_Mutation_p.I1903V|NCOR2_ENST00000404621.1_Missense_Mutation_p.I2332V|NCOR2_ENST00000397355.1_Missense_Mutation_p.I2333V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2353					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTTCTAATTATGGCCTCCAGC	0.547													16	23					0	0	0	0	C	124812114	T	C	124812114	3	2	247	1	0	0	0	0	1	0	0	0	10306	1464	51	5	532	5	NCOR2	12	124812114	Missense_Mutation	SNP	T	TCGA-CV-6441-01A-11D-1683-08	2398957	124812114	9039781	175	44392											
ZNF10	7556	broad.mit.edu	37	chr12	133732548	133732548	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaggtgataaatcctacaAatgccctgataatgacaact	16	9	6	10	0	0	3	0	3	0	0	1	3	1	3	2	1	3	0	2	1	6	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:133732548A>T	ENST00000248211.6	+	5	938	c.716A>T	c.(715-717)aAa>aTa	p.K239I	CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.K239I|ZNF10_ENST00000402932.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	239				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AAATCCTACAAATGCCCTGAT	0.373													27	48					0	0	0	0	T	133732548	A	T	133732548	3	4	247	1	0	0	0	0	1	0	0	0	17807	14	1	5	730	5	ZNF10	12	133732548	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	8920434	133732548	119347	176	44393											
MAB21L1	4081	broad.mit.edu	37	chr13	36050182	36050182	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactactttgcagacttcccGgatagttttggcaatggcag	10	12	10	9	1	0	1	0	0	0	1	1	2	1	2	1	3	3	4	1	3	4	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr13:36050182G>T	ENST00000379919.4	-	1	650	c.94C>A	c.(94-96)Cgg>Agg	p.R32R	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	32					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CAGACTTCCCGGATAGTTTTG	0.512													18	73					1.37657e-19	1.55947e-19	1	0	T	36050182	G	T	36050182	2	4	247	1	0	0	0	0	0	0	0	1	9206	1115	39	3		3	MAB21L1	13	36050182	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08		36050182	79119696	177	44394											
SLITRK6	84189	broad.mit.edu	37	chr13	86369500	86369500	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaatattccactagatCagacttcattaaactgtgaa	16	12	6	7	0	2	4	2	2	0	2	3	4	3	4	1	0	1	0	1	0	6	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr13:86369500C>A	ENST00000400286.2	-	2	1742	c.1144G>T	c.(1144-1146)Gat>Tat	p.D382Y		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	382						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCACTAGATCAGACTTCATT	0.378													32	46					1.06801e-11	1.173e-11	1	0	A	86369500	C	A	86369500	3	1	247	1	0	0	0	0	1	0	0	0	14835	826	29	2	1385	2	SLITRK6	13	86369500	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	50319318	86369500	28800378	178	44395											
ATP11A	23250	broad.mit.edu	37	chr13	113439521	113439521	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagccacctccgggcgcaGaggcctacatcccacagaga	10	3	13	15	2	0	2	0	0	0	2	2	4	2	3	5	3	2	1	5	3	1	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr13:113439521G>C	ENST00000487903.1	+	2	200	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	ATP11A_ENST00000375645.3_Missense_Mutation_p.E38Q|ATP11A_ENST00000375630.2_Missense_Mutation_p.E38Q|ATP11A_ENST00000283558.8_Missense_Mutation_p.E38Q			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	38					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCCGGGCGCAGAGGCCTACAT	0.557											OREG0003855	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	74					0	0	0	0	C	113439521	G	C	113439521	3	2	247	1	0	0	0	0	1	0	0	0	1123	943	33	2	118	2	ATP11A	13	113439521	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	27070021	113439521	1730357	179	44396											
ATP11A	23250	broad.mit.edu	37	chr13	113464990	113464990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaaccagtgtcctgttCatttcattcagcacggcaag	10	11	8	12	1	3	1	3	1	0	0	4	1	4	1	3	1	2	3	3	1	2	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr13:113464990C>A	ENST00000487903.1	+	5	479	c.391C>A	c.(391-393)Cat>Aat	p.H131N	ATP11A_ENST00000375645.3_Missense_Mutation_p.H131N|ATP11A_ENST00000375630.2_Missense_Mutation_p.H131N|ATP11A_ENST00000283558.8_Missense_Mutation_p.H131N			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	131					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GTGTCCTGTTCATTTCATTCA	0.463													18	124					8.00594e-06	8.42183e-06	1	0	A	113464990	C	A	113464990	3	1	247	1	0	0	0	0	1	0	0	0	1123	826	29	2	409	2	ATP11A	13	113464990	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	25469	113464990	1704888	180	44397											
MDGA2	161357	broad.mit.edu	37	chr14	47426600	47426600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taacaagaaagctgcatctcCcagctccagcttcatttatg	12	11	6	12	0	2	1	1	0	1	1	4	1	3	1	2	0	5	4	2	0	4	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr14:47426600C>T	ENST00000426342.1	-	9	1918	c.1172G>A	c.(1171-1173)gGg>gAg	p.G391E	MDGA2_ENST00000357362.3_Missense_Mutation_p.G391E|MDGA2_ENST00000439988.2_Missense_Mutation_p.G620E|MDGA2_ENST00000399232.2_Missense_Mutation_p.G689E	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	620	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GCTGCATCTCCCAGCTCCAGC	0.358													17	35					0	0	0	0	T	47426600	C	T	47426600	3	4	247	1	0	0	0	0	1	0	0	0	9476	623	22	4	1047	4	MDGA2	14	47426600	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08		47426600	59922940	181	44398											
NID2	22795	broad.mit.edu	37	chr14	52535538	52535538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggggattcgccagcttcaCcacggctgagctttcgtcgt	6	10	12	13	4	1	1	1	1	0	0	4	2	1	2	2	3	2	3	2	3	0	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr14:52535538C>A	ENST00000216286.5	-	1	174	c.175G>T	c.(175-177)Gtg>Ttg	p.V59L	NID2_ENST00000541773.1_Splice_Site_p.V6_splice	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	59						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCCAGCTTCACCACGGCTGAG	0.637													22	37					2.48779e-11	2.71396e-11	1	0	A	52535538	C	A	52535538	3	1	247	1	0	0	0	0	1	0	0	0	10485	507	18	4	4040	4	NID2	14	52535538	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	5108938	52535538	54814002	182	44399											
MLH3	27030	broad.mit.edu	37	chr14	75485569	75485569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggtctatgtcagctaacGgcagcatagaaggtctcccg	10	9	12	10	2	3	1	1	0	2	1	4	1	3	1	1	3	3	3	1	3	4	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr14:75485569G>T	ENST00000355774.2	-	12	4420	c.4205C>A	c.(4204-4206)cCg>cAg	p.P1402Q	MLH3_ENST00000238662.7_Missense_Mutation_p.P1378Q|MLH3_ENST00000380968.2_Missense_Mutation_p.P340Q|MLH3_ENST00000556740.1_Missense_Mutation_p.P1402Q|MLH3_ENST00000556257.1_Missense_Mutation_p.P1224Q	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1402					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.P1378R(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GTCAGCTAACGGCAGCATAGA	0.468								Mismatch excision repair (MMR)					25	38					6.12954e-19	6.91975e-19	1	0	T	75485569	G	T	75485569	3	4	247	1	0	0	0	0	1	0	0	0	9687	1116	39	3	164	3	MLH3	14	75485569	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	22950031	75485569	31863971	183	44400											
AHNAK2	113146	broad.mit.edu	37	chr14	105412107	105412107	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaactgggcatctgcaacttGggcaggtgccctttgaggcc	8	9	13	11	0	1	1	0	1	1	0	1	1	1	1	2	4	4	3	2	4	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr14:105412107G>C	ENST00000333244.5	-	7	9800	c.9681C>G	c.(9679-9681)ccC>ccG	p.P3227P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3227						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTGCAACTTGGGCAGGTGCC	0.617													34	389					0	0	0	0	C	105412107	G	C	105412107	2	2	247	1	0	0	0	0	0	0	0	1	415	1335	47	4		4	AHNAK2	14	105412107	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	29926538	105412107	1937433	184	44401											
SLC12A6	9990	broad.mit.edu	37	chr15	34538068	34538068	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctttcacagcatcaccgaaCctgggaaagaaataggagtg	14	7	10	10	1	2	1	2	0	0	1	2	4	2	3	3	2	2	1	3	2	4	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr15:34538068C>A	ENST00000354181.3	-	14	2142	c.1649_splice	c.e14-1	p.K550_splice	SLC12A6_ENST00000558589.1_Splice_Site_p.K541_splice|SLC12A6_ENST00000558667.1_Splice_Site_p.K550_splice|SLC12A6_ENST00000397702.2_Splice_Site_p.K491_splice|SLC12A6_ENST00000397707.2_Splice_Site_p.K535_splice|SLC12A6_ENST00000290209.5_Splice_Site_p.K499_splice|SLC12A6_ENST00000560611.1_Splice_Site_p.K550_splice|SLC12A6_ENST00000458406.2_Splice_Site_p.K491_splice|SLC12A6_ENST00000560164.1_Splice_Site_p.K362_splice|SLC12A6_ENST00000451844.2_Splice_Site_p.K362_splice			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	550					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CATCACCGAACCTGGGAAAGA	0.413													7	13					0.00198382	0.00203404	1	0	A	34538068	C	A	34538068	5	1	247	1	0	0	0	0	0	0	1	0	14475	521	18	4	1854	4	SLC12A6	15	34538068	Splice_Site	SNP	C	TCGA-CV-6441-01A-11D-1683-08		34538068	67993324	185	44402											
FBN1	2200	broad.mit.edu	37	chr15	48892392	48892392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagacagtgatcgtcactgCagctacctccattcatacag	12	10	7	12	1	2	2	2	1	0	1	4	2	3	2	2	0	4	2	2	0	3	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr15:48892392C>T	ENST00000316623.5	-	5	841	c.386G>A	c.(385-387)tGc>tAc	p.C129Y		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	129	EGF-like 2.		C -> Y (in MFS; severe neonatal).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATCGTCACTGCAGCTACCTCC	0.378													52	21					0	0	0	0	T	48892392	C	T	48892392	3	4	247	1	0	0	0	0	1	0	0	0	5747	710	25	4	8477	4	FBN1	15	48892392	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	14354324	48892392	53639000	186	44403											
UNC13C	440279	broad.mit.edu	37	chr15	54914565	54914565	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtcagatatctgttcaTgtggacatcactgccacccc	8	11	10	12	0	4	1	3	0	1	1	4	2	4	2	3	2	1	1	3	2	1	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr15:54914565T>C	ENST00000545554.1	+	30	6147	c.6147T>C	c.(6145-6147)caT>caC	p.H2049H	UNC13C_ENST00000260323.11_Silent_p.H2049H|UNC13C_ENST00000537900.1_Silent_p.H2047H|UNC13C_ENST00000539562.2_5'UTR			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2049	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TATCTGTTCATGTGGACATCA	0.428													61	18					0	0	0	0	C	54914565	T	C	54914565	2	2	247	1	0	0	0	0	0	0	0	1	17082	1461	51	5		5	UNC13C	15	54914565	Silent	SNP	T	TCGA-CV-6441-01A-11D-1683-08	6022173	54914565	47616827	187	44404											
CILP	8483	broad.mit.edu	37	chr15	65490839	65490839	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagttcagccatggggtcTtcaccaaccacttcccccag	8	9	7	17	0	3	0	2	0	1	0	5	0	5	0	6	2	2	1	6	2	1	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr15:65490839T>C	ENST00000261883.4	-	9	1951	c.1785A>G	c.(1783-1785)gaA>gaG	p.E595E		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	595					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCATGGGGTCTTCACCAACCA	0.522													29	57					0	0	0	0	C	65490839	T	C	65490839	2	2	247	1	0	0	0	0	0	0	0	1	3458	1606	56	5		5	CILP	15	65490839	Silent	SNP	T	TCGA-CV-6441-01A-11D-1683-08	10576274	65490839	37040553	188	44405											
CLK3	1198	broad.mit.edu	37	chr15	74922109	74922109	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacctgatgaggaggatgtTagaatttgaccctgcccagc	10	10	12	9	0	0	5	0	4	0	1	0	7	0	7	3	2	2	1	3	2	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr15:74922109T>G	ENST00000395066.3	+	13	2263	c.1802T>G	c.(1801-1803)tTa>tGa	p.L601*	CLK3_ENST00000352989.5_Nonsense_Mutation_p.L430*|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Nonsense_Mutation_p.L453*	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	601	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGGAGGATGTTAGAATTTGAC	0.607													22	5					0	0	0	0	G	74922109	T	G	74922109	4	3	247	1	0	0	0	0	0	1	0	0	3568	1764	61	5	1852	5	CLK3	15	74922109	Nonsense_Mutation	SNP	T	TCGA-CV-6441-01A-11D-1683-08	9431270	74922109	27609283	189	44406											
NR2F2	7026	broad.mit.edu	37	chr15	96875642	96875642	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagggctgcaagagcttctTcaagcgcagcgtgcggagga	9	6	16	10	4	2	1	1	0	1	1	2	4	2	3	0	3	5	4	0	3	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr15:96875642T>G	ENST00000394166.3	+	1	1697	c.308T>G	c.(307-309)tTc>tGc	p.F103C	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	103					lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AAGAGCTTCTTCAAGCGCAGC	0.622													6	11					0	0	0	0	G	96875642	T	G	96875642	3	3	247	1	0	0	0	0	1	0	0	0	10699	1783	62	5	357	5	NR2F2	15	96875642	Missense_Mutation	SNP	T	TCGA-CV-6441-01A-11D-1683-08	21953533	96875642	5655750	190	44407											
ALDH1A3	220	broad.mit.edu	37	chr15	101445832	101445832	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccatggaagacaaggggctCttcatcaaacccactgtctt	11	9	9	12	0	4	1	2	0	2	1	4	2	4	2	2	3	1	1	2	3	3	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr15:101445832C>G	ENST00000329841.5	+	10	1705	c.1173C>G	c.(1171-1173)ctC>ctG	p.L391L	ALDH1A3_ENST00000346623.6_Silent_p.L284L|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	391					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ACAAGGGGCTCTTCATCAAAC	0.537													4	26					0	0	0	0	G	101445832	C	G	101445832	2	3	247	1	0	0	0	0	0	0	0	1	492	900	32	2		2	ALDH1A3	15	101445832	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	4570190	101445832	1085560	191	44408											
E4F1	1877	broad.mit.edu	37	chr16	2273707	2273707	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcgagggtgcagttgcGgcggtggcggcggccttggc	2	6	23	10	6	0	0	0	0	0	0	0	1	0	0	1	8	2	2	1	8	0	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr16:2273707G>A	ENST00000301727.4	+	1	141	c.93G>A	c.(91-93)gcG>gcA	p.A31A	E4F1_ENST00000564139.1_Silent_p.A31A|E4F1_ENST00000565090.1_Silent_p.A31A	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	31					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GTGCAGTTGCGGCGGTGGCGG	0.751													7	2					0	0	0	0	A	2273707	G	A	2273707	2	1	247	1	0	0	0	0	0	0	0	1	4910	1103	39	1		1	E4F1	16	2273707	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08		2273707	88081046	192	44409											
ATXN2L	11273	broad.mit.edu	37	chr16	28844640	28844640	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccccccggtgggcctcatCaagggagaagacaaagatga	13	4	13	11	1	2	4	2	1	0	3	2	5	2	4	4	3	1	0	4	3	3	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr16:28844640C>T	ENST00000336783.4	+	14	2087	c.1920C>T	c.(1918-1920)atC>atT	p.I640I	ATXN2L_ENST00000382686.4_Silent_p.I640I|ATXN2L_ENST00000564304.1_Silent_p.I646I|ATXN2L_ENST00000395547.2_Silent_p.I640I|ATXN2L_ENST00000340394.8_Silent_p.I640I|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000325215.6_Silent_p.I640I|ATXN2L_ENST00000570200.1_Silent_p.I640I	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	640						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGGCCTCATCAAGGGAGAAG	0.622													18	46					0	0	0	0	T	28844640	C	T	28844640	2	4	247	1	0	0	0	0	0	0	0	1	1216	816	29	2		2	ATXN2L	16	28844640	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	26570933	28844640	61510113	193	44410											
TBX6	6911	broad.mit.edu	37	chr16	30100461	30100461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccatccaccggaatcacatCcagaagaaacaagtagcggg	15	4	9	13	2	1	2	1	0	0	2	3	3	3	3	4	2	2	1	4	2	5	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr16:30100461C>G	ENST00000553607.1	-	3	1117	c.424G>C	c.(424-426)Gat>Cat	p.D142H	TBX6_ENST00000279386.2_Missense_Mutation_p.D142H|TBX6_ENST00000395224.2_Missense_Mutation_p.D142H			O95947	TBX6_HUMAN	T-box 6	142					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						GGAATCACATCCAGAAGAAAC	0.662													17	72					0	0	0	0	G	30100461	C	G	30100461	3	3	247	1	0	0	0	0	1	0	0	0	15756	855	30	2	910	2	TBX6	16	30100461	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	1255821	30100461	60254292	194	44411											
CNGB1	1258	broad.mit.edu	37	chr16	57973358	57973358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaactggcagcctcggcctCagcctcaggctcctccttgg	5	9	11	16	1	2	1	2	1	0	0	5	1	4	1	5	4	3	2	5	4	1	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr16:57973358C>T	ENST00000564448.1	-	16	1390	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	CNGB1_ENST00000251102.8_Missense_Mutation_p.E450K|CNGB1_ENST00000564654.1_5'UTR			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	450					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCTCGGCCTCAGCCTCAGGc	0.617													7	26					0	0	0	0	T	57973358	C	T	57973358	3	4	247	1	0	0	0	0	1	0	0	0	3630	835	29	2	2479	2	CNGB1	16	57973358	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	27872897	57973358	32381395	195	44412											
CENPN	55839	broad.mit.edu	37	chr16	81061821	81061821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatgggagcatcttggctGagagggaagaacccctccga	12	7	13	9	1	1	2	0	1	1	2	2	6	2	4	3	3	2	2	3	3	4	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr16:81061821G>A	ENST00000305850.5	+	10	1646	c.856G>A	c.(856-858)Gag>Aag	p.E286K	RP11-303E16.3_ENST00000561808.1_RNA|CENPN_ENST00000428963.2_Missense_Mutation_p.E252K|RP11-303E16.3_ENST00000566390.1_RNA|CENPN_ENST00000439957.3_Missense_Mutation_p.E266K|CENPN_ENST00000393335.3_Missense_Mutation_p.E286K	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	286					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						CATCTTGGCTGAGAGGGAAGA	0.403													11	49					0	0	0	0	A	81061821	G	A	81061821	3	1	247	1	0	0	0	0	1	0	0	0	3267	1291	45	2	978	2	CENPN	16	81061821	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	23088463	81061821	9292932	196	44413											
PKD1L2	114780	broad.mit.edu	37	chr16	81183305	81183305	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggaattacccaagtccatCttttgctcagctgggtcctt	7	14	9	11	0	2	0	1	0	1	0	4	1	4	1	3	2	3	2	3	2	3	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr16:81183305C>G	ENST00000533478.1	-	0	2798				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCAAGTCCATCTTTTGCTCAG	0.592													5	19					0	0	0	0	G	81183305	C	G	81183305	1	3	247	0	1	0	0	0	0	0	0	0	12037	912	32	2		2	PKD1L2	16	81183305	RNA	SNP	C	TCGA-CV-6441-01A-11D-1683-08	121484	81183305	9171448	197	44414											
DNAH2	146754	broad.mit.edu	37	chr17	7736073	7736073	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagctcgccaaaacaaCgtgagcaatgtgcaaagtgt	13	9	9	10	2	2	1	1	1	1	0	3	1	2	1	1	0	5	3	1	0	5	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:7736073C>T	ENST00000572933.1	+	83	14363	c.12903_splice	c.e83+1	p.N4301_splice	DNAH2_ENST00000389173.2_Splice_Site_p.N4301_splice			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4301					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCAAAACAACGTGAGCAATG	0.557													172	43					0	0	0	0	T	7736073	C	T	7736073	5	4	247	1	0	0	0	0	0	0	1	0	4639	550	19	1	13229	1	DNAH2	17	7736073	Splice_Site	SNP	C	TCGA-CV-6441-01A-11D-1683-08		7736073	73459137	198	44415											
MYH2	4620	broad.mit.edu	37	chr17	10433049	10433049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgccatctcttctgtgagGtttttcacctacaaaggtga	8	14	8	11	0	3	2	1	2	2	0	4	2	3	2	3	2	2	1	3	2	2	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:10433049G>T	ENST00000245503.5	-	24	3333	c.2949C>A	c.(2947-2949)aaC>aaA	p.N983K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.N983K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	983					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTCTGTGAGGTTTTTCACCT	0.473													90	87					2.68873e-43	3.13363e-43	1	0	T	10433049	G	T	10433049	3	4	247	1	0	0	0	0	1	0	0	0	10105	1252	44	4	2944	4	MYH2	17	10433049	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	2696976	10433049	70762161	199	44416											
NCOR1	9611	broad.mit.edu	37	chr17	16068406	16068406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgaaggtgaagcattttGatcatctccacatggttgcc	9	15	9	8	0	2	3	1	3	1	0	3	3	2	3	2	2	2	2	2	2	2	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:16068406G>C	ENST00000268712.3	-	5	762	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E	NCOR1_ENST00000395851.1_Missense_Mutation_p.Q169E|NCOR1_ENST00000395848.1_Missense_Mutation_p.Q60E	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	169	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAAGCATTTTGATCATCTCCA	0.393													10	76					0	0	0	0	C	16068406	G	C	16068406	3	2	247	1	0	0	0	0	1	0	0	0	10305	1299	45	2	6985	2	NCOR1	17	16068406	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	5635357	16068406	65126804	200	44417											
NCOR1	9611	broad.mit.edu	37	chr17	16068472	16068472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtttgcctccgaatgctgGatcctttagagaataaaacc	12	12	8	9	1	0	1	0	0	0	1	2	4	2	2	4	1	3	2	4	1	5	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:16068472G>A	ENST00000268712.3	-	5	696	c.439C>T	c.(439-441)Cca>Tca	p.P147S	NCOR1_ENST00000395851.1_Missense_Mutation_p.P147S|NCOR1_ENST00000395848.1_Missense_Mutation_p.P38S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	147	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCGAATGCTGGATCCTTTAGA	0.393													8	72					0	0	0	0	A	16068472	G	A	16068472	3	1	247	1	0	0	0	0	1	0	0	0	10305	1174	41	2	7051	2	NCOR1	17	16068472	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	66	16068472	65126738	201	44418											
MYO15A	51168	broad.mit.edu	37	chr17	18062990	18062990	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgtgctttgtaacctcctGaaggtcagtccagccaactt	9	11	9	12	1	1	1	1	1	0	0	3	2	3	1	4	1	4	2	4	1	3	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:18062990G>A	ENST00000205890.5	+	55	9638	c.9300G>A	c.(9298-9300)ctG>ctA	p.L3100L	MYO15A_ENST00000451725.2_5'UTR|MYO15A_ENST00000418233.3_Silent_p.L364L	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3100	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTAACCTCCTGAAGGTCAGTC	0.532													8	28					0	0	0	0	A	18062990	G	A	18062990	2	1	247	1	0	0	0	0	0	0	0	1	10133	1277	45	2		2	MYO15A	17	18062990	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	1994518	18062990	63132220	202	44419											
ZNF207	7756	broad.mit.edu	37	chr17	30688523	30688523	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatacacccagtcattttgCggtgaaaacatgtaagcatc	15	10	7	9	1	1	1	1	1	0	0	2	1	1	1	1	1	4	2	1	1	5	4	rs146844075		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:30688523C>T	ENST00000394670.4	+	6	757	c.588C>T	c.(586-588)tgC>tgT	p.C196C	ZNF207_ENST00000394673.2_Silent_p.C196C|ZNF207_ENST00000342555.6_Silent_p.C199C|ZNF207_ENST00000577908.1_Silent_p.C196C|ZNF207_ENST00000341711.6_Silent_p.C97C|ZNF207_ENST00000321233.6_Intron	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	184						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGTCATTTTGCGGTGAAAACA	0.318													3	28					0	0	0	0	T	30688523	C	T	30688523	2	4	247	1	0	0	0	0	0	0	0	1	17860	776	27	1		1	ZNF207	17	30688523	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	12625533	30688523	50506687	203	44420											
CDK12	51755	broad.mit.edu	37	chr17	37627593	37627593	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcacagggaacaagagactCtaaacccatagcactgaaag	18	4	9	10	0	1	2	0	1	1	1	1	4	1	3	1	1	4	2	1	1	6	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:37627593C>G	ENST00000447079.4	+	2	1541	c.1508C>G	c.(1507-1509)tCt>tGt	p.S503C	CDK12_ENST00000430627.2_Missense_Mutation_p.S503C	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	503					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACAAGAGACTCTAAACCCATA	0.428			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			26	111					0	0	0	0	G	37627593	C	G	37627593	3	3	247	1	0	0	0	0	1	0	0	0	3157	913	32	2	1514	2	CDK12	17	37627593	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	6939070	37627593	43567617	204	44421											
NMT1	4836	broad.mit.edu	37	chr17	43159057	43159057	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagccaaaaagaagaaaaaGaaacaaaaaaagaagaaaga	29	0	9	3	0	0	6	0	0	0	6	0	7	0	7	1	1	2	0	1	1	11	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:43159057G>C	ENST00000592782.1	+	3	308	c.177G>C	c.(175-177)aaG>aaC	p.K59N	NMT1_ENST00000258960.2_Missense_Mutation_p.K59N|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	59	Poly-Lys.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				agaagaaaaagaaacaaaaaa	0.378													5	28					0	0	0	0	C	43159057	G	C	43159057	3	2	247	1	0	0	0	0	1	0	0	0	10573	933	33	2	183	2	NMT1	17	43159057	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	5531464	43159057	38036153	205	44422											
CLTC	1213	broad.mit.edu	37	chr17	57768080	57768080	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccattgtttatggtaatctCtctctgtaacctcaaaaaat	12	15	4	10	0	3	0	1	0	2	0	5	0	3	0	2	1	1	3	2	1	6	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:57768080C>G	ENST00000393043.1	+	31	5185	c.4911C>G	c.(4909-4911)ctC>ctG	p.L1637L	CLTC_ENST00000269122.3_Intron|CLTC_ENST00000579456.1_Intron			Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1637	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATGGTAATCTCTCTCTGTAAC	0.343			T	"ALK, TFE3"	"ALCL, renal "								8	53					0	0	0	0	G	57768080	C	G	57768080	2	3	247	1	0	0	0	0	0	0	0	1	3596	928	32	2		2	CLTC	17	57768080	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	14609023	57768080	23427130	206	44423											
ABCA5	23461	broad.mit.edu	37	chr17	67287394	67287394	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtccacaaagaatattcatCaatgtactctttcctgttcc	12	14	4	11	0	3	1	2	0	1	1	6	1	6	1	3	0	1	2	3	0	5	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:67287394C>T	ENST00000392676.3	-	12	1633	c.1569G>A	c.(1567-1569)ttG>ttA	p.L523L	ABCA5_ENST00000588877.1_Silent_p.L523L|ABCA5_ENST00000392677.2_Silent_p.L523L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	523	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GAATATTCATCAATGTACTCT	0.338													10	46					0	0	0	0	T	67287394	C	T	67287394	2	4	247	1	0	0	0	0	0	0	0	1	35	825	29	2		2	ABCA5	17	67287394	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	9519314	67287394	13907816	207	44424											
KIF19	124602	broad.mit.edu	37	chr17	72348997	72348997	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattaccccagcaggaacctCactgaccccagattctgacc	12	7	6	16	0	2	3	1	2	1	1	2	4	2	4	6	1	3	1	6	1	3	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:72348997C>G	ENST00000389916.4	+	15	2156	c.2018C>G	c.(2017-2019)tCa>tGa	p.S673*		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	673					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAGGAACCTCACTGACCCCA	0.567													17	91					0	0	0	0	G	72348997	C	G	72348997	4	3	247	1	0	0	0	0	0	1	0	0	8333	838	29	2	2076	2	KIF19	17	72348997	Nonsense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	5061603	72348997	8846213	208	44425											
AFMID	125061	broad.mit.edu	37	chr17	76187113	76187113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggagcagaggaagccttGaggacctactcacagatagg	12	6	14	9	0	1	3	1	1	0	2	1	6	1	6	2	4	3	1	2	4	3	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:76187113G>C	ENST00000409257.5	+	2	180	c.126G>C	c.(124-126)ttG>ttC	p.L42F	AFMID_ENST00000586731.1_Missense_Mutation_p.L25F|AFMID_ENST00000591952.1_Missense_Mutation_p.L42F|AFMID_ENST00000588800.1_Missense_Mutation_p.L42F|AFMID_ENST00000327898.5_Missense_Mutation_p.L42F|AFMID_ENST00000589256.1_Missense_Mutation_p.L42F	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	42						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			AGGAAGCCTTGAGGACCTACT	0.542													4	12					0	0	0	0	C	76187113	G	C	76187113	3	2	247	1	0	0	0	0	1	0	0	0	362	1281	45	2	132	2	AFMID	17	76187113	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	3838116	76187113	5008097	209	44426											
CCDC40	55036	broad.mit.edu	37	chr17	78032313	78032313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggctctgcagactgagAtggagaacttggccctgcat	8	9	14	10	1	1	3	0	1	1	3	1	5	1	3	1	4	3	3	1	4	1	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:78032313A>G	ENST00000397545.4	+	8	1207	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V	CCDC40_ENST00000269318.5_Missense_Mutation_p.M394V|CCDC40_ENST00000374876.4_Missense_Mutation_p.M394V|CCDC40_ENST00000374877.3_Missense_Mutation_p.M394V	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	394					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCAGACTGAGATGGAGAACTT	0.602													8	37					0	0	0	0	G	78032313	A	G	78032313	3	3	247	1	0	0	0	0	1	0	0	0	2838	333	12	5	1210	5	CCDC40	17	78032313	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	1845200	78032313	3162897	210	44427											
NPLOC4	55666	broad.mit.edu	37	chr17	79534533	79534533	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatgaggtattctgagaCaaataggtggccaagctatg	14	9	12	6	0	1	3	0	2	1	2	1	4	1	3	1	3	1	2	1	3	5	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:79534533C>A	ENST00000374747.5	-	15	1605	c.1476G>T	c.(1474-1476)ttG>ttT	p.L492F	NPLOC4_ENST00000331134.6_Missense_Mutation_p.L492F|NPLOC4_ENST00000539314.1_Missense_Mutation_p.L331F			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	492					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TATTCTGAGACAAATAGGTGG	0.478													6	9					0.00116845	0.00120183	1	0	A	79534533	C	A	79534533	3	1	247	1	0	0	0	0	1	0	0	0	10657	477	17	4	362	4	NPLOC4	17	79534533	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	1502220	79534533	1660677	211	44428											
HGS	9146	broad.mit.edu	37	chr17	79667588	79667588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggacccaccgccagcccCgcttactcatcctaccagcc	7	5	7	22	3	1	0	1	0	0	0	2	1	2	1	9	1	4	1	9	1	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:79667588C>T	ENST00000329138.4	+	19	2109	c.1974C>T	c.(1972-1974)ccC>ccT	p.P658P		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	658	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	p.P658P(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCGCCAGCCCCGCTTACTCAT	0.692													54	7					0	0	0	0	T	79667588	C	T	79667588	2	4	247	1	0	0	0	0	0	0	0	1	7137	639	23	1		1	HGS	17	79667588	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	133055	79667588	1527622	212	44429											
TGIF1	7050	broad.mit.edu	37	chr18	3456381	3456381	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcatctggcagtgagactGaggatgaggacagcatggac	12	6	15	8	0	1	3	0	3	1	1	1	7	1	6	0	4	2	3	0	4	0	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr18:3456381G>C	ENST00000343820.5	+	2	832	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	TGIF1_ENST00000401449.1_5'UTR|TGIF1_ENST00000400167.2_5'UTR|TGIF1_ENST00000548489.2_Missense_Mutation_p.E30Q|TGIF1_ENST00000345133.5_5'UTR|TGIF1_ENST00000330513.5_Missense_Mutation_p.E145Q|TGIF1_ENST00000472042.1_5'UTR|TGIF1_ENST00000577543.1_Missense_Mutation_p.E16Q|TGIF1_ENST00000551541.1_5'UTR|TGIF1_ENST00000407501.2_Missense_Mutation_p.E16Q|TGIF1_ENST00000551402.1_Missense_Mutation_p.E16Q|TGIF1_ENST00000405385.3_5'UTR	NM_003244.3	NP_003235.1	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	145					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.E145Q(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				CAGTGAGACTGAGGATGAGGA	0.502													6	563					0	0	0	0	C	3456381	G	C	3456381	3	2	247	1	0	0	0	0	1	0	0	0	15919	1291	45	2	521	2	TGIF1	18	3456381	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08		3456381	74620867	213	44430											
CXXC1	30827	broad.mit.edu	37	chr18	47812911	47812911	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatccatggccctcacctCtgcactcccgacagtaccac	8	8	5	20	1	2	0	1	0	1	0	5	1	5	0	6	1	2	2	6	1	1	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr18:47812911C>G	ENST00000285106.6	-	3	935	c.221G>C	c.(220-222)aGa>aCa	p.R74T	CXXC1_ENST00000589940.1_Missense_Mutation_p.R74T|CXXC1_ENST00000412036.2_Missense_Mutation_p.R74T|CXXC1_ENST00000587396.1_5'UTR	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	74					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GCCCTCACCTCTGCACTCCCG	0.592													20	43					0	0	0	0	G	47812911	C	G	47812911	3	3	247	1	0	0	0	0	1	0	0	0	4129	913	32	2	1813	2	CXXC1	18	47812911	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	44356530	47812911	30264337	214	44431											
TXNL1	9352	broad.mit.edu	37	chr18	54285302	54285302	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgtcaaatccatgctcaTcactttcattaagacattca	13	14	4	10	0	5	1	5	0	0	1	6	1	6	1	1	0	1	2	1	0	2	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr18:54285302T>G	ENST00000217515.6	-	4	629	c.425A>C	c.(424-426)gAt>gCt	p.D142A	TXNL1_ENST00000590954.1_Missense_Mutation_p.D142A|TXNL1_ENST00000540155.1_Missense_Mutation_p.D19A	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	142	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TCCATGCTCATCACTTTCATT	0.353													17	31					0	0	0	0	G	54285302	T	G	54285302	3	3	247	1	0	0	0	0	1	0	0	0	16900	1435	50	5	464	5	TXNL1	18	54285302	Missense_Mutation	SNP	T	TCGA-CV-6441-01A-11D-1683-08	6472391	54285302	23791946	215	44432											
ZNF516	9658	broad.mit.edu	37	chr18	74154474	74154474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacgctcgaactggctcttGcagaaggagcactggaccgc	9	8	12	12	3	1	1	0	0	1	1	2	4	1	3	1	3	4	4	1	3	3	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr18:74154474G>A	ENST00000443185.2	-	3	854	c.537C>T	c.(535-537)tgC>tgT	p.C179C	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ACTGGCTCTTGCAGAAGGAGC	0.672													4	19					0	0	0	0	A	74154474	G	A	74154474	2	1	247	1	0	0	0	0	0	0	0	1	18055	1311	46	4		4	ZNF516	18	74154474	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	19869172	74154474	3922774	216	44433											
NCLN	56926	broad.mit.edu	37	chr19	3192652	3192652	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgccgtgccccaggacgtCgtccgggtgagcgtctgccc	3	6	15	17	6	1	1	0	1	1	0	3	2	2	2	6	2	3	0	6	2	0	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:3192652C>T	ENST00000246117.4	+	2	800	c.369C>T	c.(367-369)gtC>gtT	p.V123V	NCLN_ENST00000590671.1_Silent_p.V49V	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	123					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGACGTCGTCCGGGTGA	0.697													7	15					0	0	0	0	T	3192652	C	T	3192652	2	4	247	1	0	0	0	0	0	0	0	1	10297	871	31	1		1	NCLN	19	3192652	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08		3192652	55936331	217	44434											
DAPK3	1613	broad.mit.edu	37	chr19	3964692	3964692	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgccgtccaggatctgcttGaggaactgggtggcctcgtc	6	9	14	12	3	1	1	0	1	1	0	4	3	2	3	3	4	2	1	3	4	1	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:3964692G>C	ENST00000545797.2	-	3	603	c.360C>G	c.(358-360)ctC>ctG	p.L120L	DAPK3_ENST00000301264.3_Silent_p.L120L			O43293	DAPK3_HUMAN	death-associated protein kinase 3	120	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATCTGCTTGAGGAACTGGG	0.632													27	66					0	0	0	0	C	3964692	G	C	3964692	2	2	247	1	0	0	0	0	0	0	0	1	4270	1277	45	2		2	DAPK3	19	3964692	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	772040	3964692	55164291	218	44435											
PPAN	56342	broad.mit.edu	37	chr19	10221801	10221801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcttcccgggatggtgggcGaggccggggccggggccgcc	2	4	22	13	5	0	0	0	0	0	0	1	2	1	1	5	9	0	1	5	9	0	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:10221801G>A	ENST00000253107.7	+	12	1488	c.1382G>A	c.(1381-1383)cGa>cAa	p.R461Q	PPAN-P2RY11_ENST00000428358.1_Intron|PPAN_ENST00000556468.1_Intron|PPAN-P2RY11_ENST00000393796.4_Intron|PPAN_ENST00000393793.1_Missense_Mutation_p.R408Q	NM_020230.5	NP_064615.3			peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GATGGTGGGCGAGGCCGGGGC	0.697													4	7					0	0	0	0	A	10221801	G	A	10221801	3	1	247	1	0	0	0	0	1	0	0	0	12359	1058	37	1		1	PPAN	19	10221801	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	6257109	10221801	48907182	219	44436											
LDLR	3949	broad.mit.edu	37	chr19	11233896	11233896	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagacatccaccgtcaggctAaaggtcagctccacagccgt	11	6	10	14	2	2	1	2	0	0	1	4	2	4	1	4	2	2	2	4	2	2	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:11233896A>G	ENST00000558518.1	+	15	2374	c.2187A>G	c.(2185-2187)ctA>ctG	p.L729L	LDLR_ENST00000558013.1_Silent_p.L729L|LDLR_ENST00000535915.1_Silent_p.L688L|LDLR_ENST00000455727.2_Silent_p.L561L|LDLR_ENST00000557933.1_Silent_p.L729L|LDLR_ENST00000545707.1_Silent_p.L551L	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	729	Clustered O-linked oligosaccharides.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CCGTCAGGCTAAAGGTCAGCT	0.612													14	47					0	0	0	0	G	11233896	A	G	11233896	2	3	247	1	0	0	0	0	0	0	0	1	8757	349	13	5		5	LDLR	19	11233896	Silent	SNP	A	TCGA-CV-6441-01A-11D-1683-08	1012095	11233896	47895087	220	44437											
CCDC105	126402	broad.mit.edu	37	chr19	15132719	15132719	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaactcccggaggctgcGcgcctcgcacaggtaaaccc	9	4	10	18	4	0	0	0	0	0	0	2	1	1	1	4	3	3	3	4	3	3	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:15132719G>A	ENST00000292574.3	+	6	1321	c.1239G>A	c.(1237-1239)gcG>gcA	p.A413A		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	413					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGGAGGCTGCGCGCCTCGCAC	0.617													26	16					0	0	0	0	A	15132719	G	A	15132719	2	1	247	1	0	0	0	0	0	0	0	1	2765	1074	38	1		1	CCDC105	19	15132719	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	3898823	15132719	43996264	221	44438											
CASP14	23581	broad.mit.edu	37	chr19	15164426	15164426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcgaaagcaccatgaaaaGagaccccactgccgaggtat	15	6	9	11	2	0	2	0	1	0	1	1	5	0	2	4	1	2	2	4	1	4	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:15164426G>C	ENST00000427043.3	+	3	469	c.161G>C	c.(160-162)aGa>aCa	p.R54T	CASP14_ENST00000221740.1_Missense_Mutation_p.R54T	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	54					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ACCATGAAAAGAGACCCCACT	0.537													17	60					0	0	0	0	C	15164426	G	C	15164426	3	2	247	1	0	0	0	0	1	0	0	0	2695	942	33	2	167	2	CASP14	19	15164426	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	31707	15164426	43964557	222	44439											
CPAMD8	27151	broad.mit.edu	37	chr19	17086829	17086829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctgggcaggagtcagccGgaacccagacctgagcaggt	10	4	14	13	1	1	2	1	1	0	1	1	4	1	4	4	4	3	2	4	4	1	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:17086829G>A	ENST00000443236.1	-	16	2063	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	631						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGAGTCAGCCGGAACCCAGAC	0.602													12	11					0	0	0	0	A	17086829	G	A	17086829	3	1	247	1	0	0	0	0	1	0	0	0	3825	1115	39	1	3874	1	CPAMD8	19	17086829	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	1922403	17086829	42042154	223	44440											
ZNF257	113835	broad.mit.edu	37	chr19	22271115	22271115	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttgcatgctttcacaacTaactcgacataagagaattc	14	13	5	9	1	1	1	1	0	0	1	3	3	1	1	0	0	4	2	0	0	4	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:22271115T>A	ENST00000594947.1	+	4	707	c.563T>A	c.(562-564)cTa>cAa	p.L188Q	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTTTCACAACTAACTCGACAT	0.338													4	18					0	0	0	0	A	22271115	T	A	22271115	3	1	247	1	0	0	0	0	1	0	0	0	17895	1522	53	5	577	5	ZNF257	19	22271115	Missense_Mutation	SNP	T	TCGA-CV-6441-01A-11D-1683-08	5184286	22271115	36857868	224	44441											
ZNF780A	284323	broad.mit.edu	37	chr19	40582009	40582009	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttctaaaataaaaggcctCaatgccaagagttgtactta	16	12	6	7	0	2	1	1	0	1	1	2	1	2	1	2	1	2	2	2	1	8	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:40582009C>G	ENST00000450241.2	-	6	549	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	ZNF780A_ENST00000455521.1_Missense_Mutation_p.E115Q|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E115Q|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E114Q|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.E114Q			O75290	Z780A_HUMAN	zinc finger protein 780A	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E115Q(1)|p.E80Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TAAAAGGCCTCAATGCCAAGA	0.328													35	17					0	0	0	0	G	40582009	C	G	40582009	3	3	247	1	0	0	0	0	1	0	0	0	18245	835	29	2	1716	2	ZNF780A	19	40582009	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	18310894	40582009	18546974	225	44442											
GRIK5	2901	broad.mit.edu	37	chr19	42557775	42557775	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggatggttgtgaccaccagGgtcttgttggccagtgtctg	6	12	15	8	0	2	1	0	1	2	0	2	2	2	2	3	4	0	2	3	4	0	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:42557775G>A	ENST00000262895.3	-	10	1247	c.1248C>T	c.(1246-1248)acC>acT	p.T416T	GRIK5_ENST00000301218.4_Silent_p.T416T|GRIK5_ENST00000593562.1_Silent_p.T416T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	416						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TGACCACCAGGGTCTTGTTGG	0.622													11	32					0	0	0	0	A	42557775	G	A	42557775	2	1	247	1	0	0	0	0	0	0	0	1	6827	1219	43	4		4	GRIK5	19	42557775	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	1975766	42557775	16571208	226	44443											
PSG8	440533	broad.mit.edu	37	chr19	43269720	43269720	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtgtgcagggaggggctGagaggagccccatggtctct	6	8	18	9	0	1	1	0	1	1	1	2	4	1	3	2	5	2	3	2	5	0	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:43269720G>C	ENST00000404209.4	-	1	110	c.14C>G	c.(13-15)tCa>tGa	p.S5*	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000306511.4_Nonsense_Mutation_p.S5*|PSG8_ENST00000406636.3_Nonsense_Mutation_p.S5*	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	5						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGAGGGGCTGAGAGGAGCCC	0.592													18	62					0	0	0	0	C	43269720	G	C	43269720	4	2	247	1	0	0	0	0	0	1	0	0	12740	1294	45	2	1307	2	PSG8	19	43269720	Nonsense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	711945	43269720	15859263	227	44444											
MARK4	57787	broad.mit.edu	37	chr19	45783855	45783855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggggaccggggcgcccCagggctggccctggcacggg	3	3	22	13	3	0	0	0	0	0	0	0	1	0	1	4	9	0	2	4	9	0	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:45783855C>T	ENST00000300843.4	+	12	1436	c.1139C>T	c.(1138-1140)cCa>cTa	p.P380L	MARK4_ENST00000262891.4_Missense_Mutation_p.P380L	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	380					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGGGGCGCCCCAGGGCTGGCC	0.677													11	49					0	0	0	0	T	45783855	C	T	45783855	3	4	247	1	0	0	0	0	1	0	0	0	9384	594	21	4	1185	4	MARK4	19	45783855	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	2514135	45783855	13345128	228	44445											
ZC3H4	23211	broad.mit.edu	37	chr19	47575952	47575952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatcctcggcacctgcttCtgcatcatcggccaacatct	7	11	6	17	2	4	0	2	0	2	0	7	0	5	0	3	2	3	3	3	2	1	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:47575952C>T	ENST00000253048.5	-	12	1496	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	487							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCACCTGCTTCTGCATCATCG	0.587													8	15					0	0	0	0	T	47575952	C	T	47575952	3	4	247	1	0	0	0	0	1	0	0	0	17665	922	32	2	2468	2	ZC3H4	19	47575952	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	1792097	47575952	11553031	229	44446											
VRK3	51231	broad.mit.edu	37	chr19	50496192	50496192	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acatactcattctcatggagGaactccagggcatccagctg	11	9	9	12	0	2	0	2	0	1	0	5	2	4	2	2	3	3	2	2	3	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:50496192G>C	ENST00000599538.1	-	10	1552	c.888C>G	c.(886-888)ttC>ttG	p.F296L	VRK3_ENST00000443401.2_Missense_Mutation_p.F65L|VRK3_ENST00000593919.1_Missense_Mutation_p.F296L|VRK3_ENST00000594948.1_Missense_Mutation_p.F296L|VRK3_ENST00000377011.2_Missense_Mutation_p.F246L|VRK3_ENST00000316763.3_Missense_Mutation_p.F296L|VRK3_ENST00000601912.1_Missense_Mutation_p.F246L|VRK3_ENST00000601341.1_Missense_Mutation_p.F246L|VRK3_ENST00000594092.1_Missense_Mutation_p.F296L|VRK3_ENST00000424804.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	296	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCTCATGGAGGAACTCCAGGG	0.522													33	94					0	0	0	0	C	50496192	G	C	50496192	3	2	247	1	0	0	0	0	1	0	0	0	17317	1165	41	2	556	2	VRK3	19	50496192	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	2920240	50496192	8632791	230	44447											
SIGLEC7	27036	broad.mit.edu	37	chr19	51649129	51649129	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatccacagctctggggAacagctcatctctttcagtc	9	10	8	14	0	4	0	2	0	2	0	7	1	5	1	1	2	4	3	1	2	1	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:51649129A>C	ENST00000317643.6	+	4	847	c.778A>C	c.(778-780)Aac>Cac	p.N260H	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.N167H	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	260	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AGCTCTGGGGAACAGCTCATC	0.517													19	83					0	0	0	0	C	51649129	A	C	51649129	3	2	247	1	0	0	0	0	1	0	0	0	14401	246	9	5	792	5	SIGLEC7	19	51649129	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	1152937	51649129	7479854	231	44448											
KIR3DL2	3812	broad.mit.edu	37	chr19	55378031	55378031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcacagttggatcactgcGttttcatacagagaaaaatc	14	10	8	9	2	2	1	2	0	0	1	3	3	2	2	0	1	2	3	0	1	3	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:55378031G>A	ENST00000326321.3	+	9	1246	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.V405I|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.V388I	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	405					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGATCACTGCGTTTTCATACA	0.512													56	135					0	0	0	0	A	55378031	G	A	55378031	3	1	247	1	0	0	0	0	1	0	0	0	8373	1145	40	1	1247	1	KIR3DL2	19	55378031	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	3728902	55378031	3750952	232	44449											
NLRP13	126204	broad.mit.edu	37	chr19	56413454	56413454	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggcctcacacaggaacttGactccctcgtctctcaggct	9	9	8	15	1	3	1	2	1	1	0	6	2	4	2	2	3	1	1	2	3	2	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:56413454G>C	ENST00000588751.1	-	9	2760	c.2736C>G	c.(2734-2736)gtC>gtG	p.V912V	NLRP13_ENST00000342929.3_Silent_p.V912V			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	912							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACAGGAACTTGACTCCCTCGT	0.552													14	57					0	0	0	0	C	56413454	G	C	56413454	2	2	247	1	0	0	0	0	0	0	0	1	10545	1277	45	2		2	NLRP13	19	56413454	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	1035423	56413454	2715529	233	44450											
NLRP8	126205	broad.mit.edu	37	chr19	56481960	56481960	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggactgatcttggcaataAtcttcaaggtaacgggcatc	11	12	10	8	1	3	1	1	1	2	0	4	2	3	2	0	4	1	3	0	4	4	5	rs143689901		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:56481960A>C	ENST00000291971.3	+	6	2503	c.2432A>C	c.(2431-2433)aAt>aCt	p.N811T	NLRP8_ENST00000590542.1_Missense_Mutation_p.N811T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	811						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTGGCAATAATCTTCAAGGT	0.483													23	177					0	0	0	0	C	56481960	A	C	56481960	3	2	247	1	0	0	0	0	1	0	0	0	10553	101	4	5	2454	5	NLRP8	19	56481960	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	68506	56481960	2647023	234	44451											
ACSS1	84532	broad.mit.edu	37	chr20	24993469	24993469	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcgtcctcaatctctgcGgtccccagccggtggccact	5	9	11	16	3	2	0	1	0	1	0	5	0	4	0	5	4	2	0	5	4	1	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:24993469G>A	ENST00000537502.1	-	9	2968	c.1437C>T	c.(1435-1437)acC>acT	p.T479T	ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000542618.1_Silent_p.T441T|ACSS1_ENST00000323482.4_Silent_p.T562T			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	562					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAATCTCTGCGGTCCCCAGCC	0.597													38	34					0	0	0	0	A	24993469	G	A	24993469	2	1	247	1	0	0	0	0	0	0	0	1	188	1103	39	1		1	ACSS1	20	24993469	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08		24993469	38032051	235	44452											
KIF3B	9371	broad.mit.edu	37	chr20	30898796	30898796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggagaagagggtgaggagGaaggggatgataaggatgat	15	5	21	0	0	0	5	0	3	0	2	0	10	0	9	0	7	0	0	0	7	3	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:30898796G>A	ENST00000375712.3	+	2	1383	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	406	Poly-Glu.				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|plus-end-directed microtubule motor activity|Rho GTPase binding			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)			gggtgaggaggaaggggaTGA	0.557													8	14					0	0	0	0	A	30898796	G	A	30898796	3	1	247	1	0	0	0	0	1	0	0	0	8352	1175	41	2	1218	2	KIF3B	20	30898796	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	5905327	30898796	32126724	236	44453											
SAMHD1	25939	broad.mit.edu	37	chr20	35532577	35532577	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatccactataaaatcttCagccttcagtttcacgtcta	12	14	3	12	1	5	0	3	0	2	0	6	0	6	0	2	0	2	1	2	0	5	7			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:35532577C>A	ENST00000262878.4	-	13	1685	c.1486G>T	c.(1486-1488)Gaa>Taa	p.E496*		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	496					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATAAAATCTTCAGCCTTCAGT	0.378													22	108					1.10923e-09	1.19797e-09	1	0	A	35532577	C	A	35532577	4	1	247	1	0	0	0	0	0	1	0	0	13913	835	29	2	410	2	SAMHD1	20	35532577	Nonsense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	4633781	35532577	27492943	237	44454											
PTPRT	11122	broad.mit.edu	37	chr20	41306573	41306573	+	Frame_Shift_Del	DEL	G	G	-																															cccccctcacctggtcgtgtGaggagcactcggatctcata																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:41306573delG	ENST00000373198.3	-	7	1321	c.1086delC	c.(1084-1086)ctfs	p.L362fs	PTPRT_ENST00000373187.1_Frame_Shift_Del_p.L362fs|PTPRT_ENST00000373190.1_Frame_Shift_Del_p.L362fs|PTPRT_ENST00000373193.3_Frame_Shift_Del_p.L362fs|PTPRT_ENST00000373201.1_Frame_Shift_Del_p.L362fs|PTPRT_ENST00000373184.1_Frame_Shift_Del_p.L362fs|PTPRT_ENST00000356100.2_Frame_Shift_Del_p.L362fs	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	362	Fibronectin type-III 1.				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)				CTGGTCGTGTGAGGAGCACTC	0.567													24	106	---	---	---	---					-	41306573	G	-	41306573	7	5	247	1	0	1	0	1	0	0	0	0	12894	1277	45	0	3400	0	PTPRT	20	41306573	Frame_Shift_Del	DEL	G	TCGA-CV-6441-01A-11D-1683-08	5773996	41306573	21718947	238	44455											
SLC12A5	57468	broad.mit.edu	37	chr20	44664091	44664091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccttgctcagtggcctgGccaactacaccaacctgccc	7	8	7	19	0	1	0	1	0	0	0	2	0	2	0	7	2	5	1	7	2	3	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:44664091G>A	ENST00000454036.1	+	3	341	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	SLC12A5_ENST00000372315.1_Missense_Mutation_p.A66T|SLC12A5_ENST00000539566.1_Missense_Mutation_p.A66T|SLC12A5_ENST00000243964.3_Missense_Mutation_p.A66T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	89					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGTGGCCTGGCCAACTACAC	0.587													5	192					0	0	0	0	A	44664091	G	A	44664091	3	1	247	1	0	0	0	0	1	0	0	0	14474	1203	42	4	331	4	SLC12A5	20	44664091	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	3357518	44664091	18361429	239	44456											
ZNF334	55713	broad.mit.edu	37	chr20	45140723	45140723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccctgagcaacttacctGaaattttttcattttcatgt	11	17	4	9	0	2	2	2	2	0	0	3	2	3	2	2	0	3	1	2	0	4	6			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:45140723G>T	ENST00000347606.4	-	2	201	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	ZNF334_ENST00000457685.2_5'UTR	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAACTTACCTGAAATTTTTTC	0.378													20	26					7.87624e-14	8.79967e-14	1	0	T	45140723	G	T	45140723	3	4	247	1	0	0	0	0	1	0	0	0	17946	1299	45	2	2039	2	ZNF334	20	45140723	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	476632	45140723	17884797	240	44457											
ZNFX1	57169	broad.mit.edu	37	chr20	47887747	47887747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatggagaacactctggCgatccattttggagctacaa	12	10	10	9	1	1	1	0	0	1	1	2	4	2	2	1	3	4	2	1	3	4	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:47887747C>T	ENST00000396105.1	-	3	848	c.602G>A	c.(601-603)cGc>cAc	p.R201H	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R201H|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R201H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	201							metal ion binding	p.R201H(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AACACTCTGGCGATCCATTTT	0.453													57	65					0	0	0	0	T	47887747	C	T	47887747	3	4	247	1	0	0	0	0	1	0	0	0	18298	768	27	1	5202	1	ZNFX1	20	47887747	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	2747024	47887747	15137773	241	44458											
KCNB1	3745	broad.mit.edu	37	chr20	47990164	47990164	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actagagtgctggctggcatCagggctggggttggcctcca	6	9	16	10	0	1	1	1	0	0	1	2	1	2	1	2	6	1	5	2	6	1	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:47990164C>G	ENST00000371741.4	-	2	2099	c.1933G>C	c.(1933-1935)Gat>Cat	p.D645H		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	645					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGCTGGCATCAGGGCTGGGG	0.567													7	57					0	0	0	0	G	47990164	C	G	47990164	3	3	247	1	0	0	0	0	1	0	0	0	8065	826	29	2	647	2	KCNB1	20	47990164	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	102417	47990164	15035356	242	44459											
LAMA5	3911	broad.mit.edu	37	chr20	60884793	60884793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcaggcccccgaggtacaGaggggctggggcaccagctg	8	3	18	12	1	0	1	0	0	0	1	0	2	0	1	3	7	2	5	3	7	1	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:60884793G>C	ENST00000252999.3	-	79	10993	c.10927C>G	c.(10927-10929)Ctg>Gtg	p.L3643V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3643	Laminin G-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGAGGTACAGAGGGGCTGGG	0.672													10	12					0	0	0	0	C	60884793	G	C	60884793	3	2	247	1	0	0	0	0	1	0	0	0	8662	933	33	2	168	2	LAMA5	20	60884793	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	12894629	60884793	2140727	243	44460											
BAGE2	85319	broad.mit.edu	37	chr21	11085817	11085819	+	RNA	DEL	CAC	CAC	-																															accaccactaccaccaccatCaccaccaccaccatcaccat																										TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr21:11085817_11085819delCAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccatcaccaccaccacc	0.581													2	4	---	---	---	---					-	11085819	CAC	-	11085817	6	5	247	0	1	1	0	1	0	0	0	0	1296	841	29	0		0	BAGE2	21	11085817	RNA	DEL	CAC	TCGA-CV-6441-01A-11D-1683-08		11085817	37044078	244	44461											
RWDD2B	10069	broad.mit.edu	37	chr21	30380432	30380432	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagtctgctgggatctactCaataatactgatctaataga	13	13	8	7	0	4	3	1	2	3	1	4	4	4	4	0	1	3	1	0	1	6	5			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr21:30380432C>G	ENST00000493196.1	-	4	475	c.375G>C	c.(373-375)ttG>ttC	p.L125F	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	125	RWD.									endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						GGGATCTACTCAATAATACTG	0.358													13	35					0	0	0	0	G	30380432	C	G	30380432	3	3	247	1	0	0	0	0	1	0	0	0	13841	825	29	2	592	2	RWDD2B	21	30380432	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	19294615	30380432	17749463	245	44462											
DOPEY2	9980	broad.mit.edu	37	chr21	37650364	37650364	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctttactatgtttttcCatacttacgcaaccacaggt	9	16	5	11	1	1	0	0	0	1	0	2	0	2	0	2	1	5	3	2	1	5	7			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr21:37650364C>G	ENST00000399151.3	+	29	5889	c.5804C>G	c.(5803-5805)cCa>cGa	p.P1935R		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1935					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TATGTTTTTCCATACTTACGC	0.418													10	43					0	0	0	0	G	37650364	C	G	37650364	3	3	247	1	0	0	0	0	1	0	0	0	4744	594	21	4	5914	4	DOPEY2	21	37650364	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	7269932	37650364	10479531	246	44463											
MICAL3	57553	broad.mit.edu	37	chr22	18387474	18387474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcgtagatcatgtatggtGaatggccagagatgcaagac	12	9	12	8	1	1	4	1	1	0	3	2	5	1	4	2	2	1	3	2	2	4	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:18387474G>A	ENST00000441493.2	-	3	748	c.396C>T	c.(394-396)ttC>ttT	p.F132F	MICAL3_ENST00000383094.3_Silent_p.F132F|MICAL3_ENST00000414725.2_Silent_p.F132F|MICAL3_ENST00000400561.2_Silent_p.F132F|MICAL3_ENST00000444520.1_Silent_p.F132F|MICAL3_ENST00000207726.7_Silent_p.F132F|MICAL3_ENST00000429452.1_Silent_p.F132F|MICAL3_ENST00000585038.1_Silent_p.F132F	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	132						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CATGTATGGTGAATGGCCAGA	0.483													32	91					0	0	0	0	A	18387474	G	A	18387474	2	1	247	1	0	0	0	0	0	0	0	1	9640	1281	45	2		2	MICAL3	22	18387474	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08		18387474	32917092	247	44464											
MICAL3	57553	broad.mit.edu	37	chr22	18387600	18387600	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggggccagccccaatgatGagacactgaaaaacacagct	15	4	10	12	0	0	3	0	3	0	1	0	4	0	3	3	2	3	1	3	2	3	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:18387600G>A	ENST00000441493.2	-	3	622	c.270C>T	c.(268-270)ctC>ctT	p.L90L	MICAL3_ENST00000383094.3_Silent_p.L90L|MICAL3_ENST00000414725.2_Silent_p.L90L|MICAL3_ENST00000400561.2_Silent_p.L90L|MICAL3_ENST00000444520.1_Silent_p.L90L|MICAL3_ENST00000207726.7_Silent_p.L90L|MICAL3_ENST00000429452.1_Silent_p.L90L|MICAL3_ENST00000585038.1_Silent_p.L90L	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	90						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCCCAATGATGAGACACTGAA	0.507													4	20					0	0	0	0	A	18387600	G	A	18387600	2	1	247	1	0	0	0	0	0	0	0	1	9640	1277	45	2		2	MICAL3	22	18387600	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08	126	18387600	32916966	248	44465											
MICAL3	57553	broad.mit.edu	37	chr22	18389542	18389542	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaccggtcaaagaggacatGagctgggttcatggtctcat	12	9	12	8	1	3	2	3	1	1	1	4	3	3	3	1	4	2	2	1	4	2	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:18389542G>C	ENST00000441493.2	-	2	389	c.37C>G	c.(37-39)Cat>Gat	p.H13D	MICAL3_ENST00000383094.3_Missense_Mutation_p.H13D|MICAL3_ENST00000414725.2_Missense_Mutation_p.H13D|MICAL3_ENST00000400561.2_Missense_Mutation_p.H13D|MICAL3_ENST00000444520.1_Missense_Mutation_p.H13D|MICAL3_ENST00000207726.7_Missense_Mutation_p.H13D|MICAL3_ENST00000429452.1_Missense_Mutation_p.H13D|MICAL3_ENST00000585038.1_Missense_Mutation_p.H13D	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	13						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AAGAGGACATGAGCTGGGTTC	0.577													18	63					0	0	0	0	C	18389542	G	C	18389542	3	2	247	1	0	0	0	0	1	0	0	0	9640	1290	45	2	6832	2	MICAL3	22	18389542	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	1942	18389542	32915024	249	44466											
C22orf15	150248	broad.mit.edu	37	chr22	24106898	24106898	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccattacccagagctggCaggtgagtgtcagggtacag	10	8	14	9	0	1	3	1	2	0	1	1	3	1	3	2	3	3	3	2	3	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:24106898C>T	ENST00000305199.5	+	4	428	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	C22orf15_ENST00000382821.3_Missense_Mutation_p.A113V|C22orf15_ENST00000402217.3_Missense_Mutation_p.A108V			Q8WYQ4	CV015_HUMAN	chromosome 22 open reading frame 15	0										breast(1)|pancreas(1)	2		Medulloblastoma(6;6.27e-05)|all_neural(6;0.00518)				CCAGAGCTGGCAGGTGAGTGT	0.587													11	25					0	0	0	0	T	24106898	C	T	24106898	4	4	247	1	0	0	0	0	0	1	0	0	2156	710	25	4	337	4	C22orf15	22	24106898	Nonsense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	5717356	24106898	27197668	250	44467											
EIF3L	51386	broad.mit.edu	37	chr22	38270460	38270460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcctggtcgggcttctcCgcctgcactccctgttagga	4	11	11	15	2	2	0	1	0	1	0	5	1	3	1	4	3	2	3	4	3	1	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:38270460C>T	ENST00000412331.2	+	9	1417	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	EIF3L_ENST00000381683.6_Missense_Mutation_p.R231C|EIF3L_ENST00000406934.1_Missense_Mutation_p.R181C	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	279						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGGGCTTCTCCGCCTGCACTC	0.547													44	19					0	0	0	0	T	38270460	C	T	38270460	3	4	247	1	0	0	0	0	1	0	0	0	5060	652	23	1	869	1	EIF3L	22	38270460	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	14163562	38270460	13034106	251	44468											
ST13	6767	broad.mit.edu	37	chr22	41240914	41240914	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaccttctttatcaatttCtgccaaagtcgagaaaatga	14	12	5	10	1	3	2	1	1	2	1	4	3	3	2	2	0	1	0	2	0	5	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:41240914C>T	ENST00000216218.3	-	4	726		c.e4-1			NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)								protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TTATCAATTTCTGCCAAAGTC	0.388													6	15					0	0	0	0	T	41240914	C	T	41240914	5	4	247	1	0	0	0	0	0	0	1	0	15300	927	32	2	901	2	ST13	22	41240914	Splice_Site	SNP	C	TCGA-CV-6441-01A-11D-1683-08	2970454	41240914	10063652	252	44469											
MPPED1	758	broad.mit.edu	37	chr22	43898630	43898630	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacatgtctttggccacatCcacgaaggtcagtacgtagc	10	11	9	11	2	2	0	1	0	1	0	3	1	3	0	2	2	3	2	2	2	4	4			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:43898630C>A	ENST00000417669.1	+	6	1299	c.855C>A	c.(853-855)atC>atA	p.I285I	MPPED1_ENST00000439548.1_Silent_p.I127I|MPPED1_ENST00000443721.1_Silent_p.I285I|MPPED1_ENST00000542779.1_Silent_p.I285I|MPPED1_ENST00000538182.1_Silent_p.I318I|MPPED1_ENST00000414469.2_Silent_p.I179I			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	285							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				TTGGCCACATCCACGAAGGTC	0.612													14	29					6.31663e-08	6.75441e-08	1	0	A	43898630	C	A	43898630	2	1	247	1	0	0	0	0	0	0	0	1	9811	845	30	2		2	MPPED1	22	43898630	Silent	SNP	C	TCGA-CV-6441-01A-11D-1683-08	2657716	43898630	7405936	253	44470											
PLXNB2	23654	broad.mit.edu	37	chr22	50724681	50724681	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaggaagatgttgcctcGtctaaggaggagctggatgg	9	9	17	6	2	1	2	0	1	1	1	2	6	1	6	1	5	2	2	1	5	2	2			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:50724681G>A	ENST00000449103.1	-	9	1938	c.1798C>T	c.(1798-1800)Cga>Tga	p.R600*	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.R600*			O15031	PLXB2_HUMAN	plexin B2	600					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATGTTGCCTCGTCTAAGGAGG	0.647													59	20					0	0	0	0	A	50724681	G	A	50724681	4	1	247	1	0	0	0	0	0	1	0	0	12196	1153	40	1	3834	1	PLXNB2	22	50724681	Nonsense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	6826051	50724681	579885	254	44471											
IL3RA	3563	broad.mit.edu	37	chrX	1471251	1471251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtcttcactacaaaacGgatgctcagggaacacgtat	13	9	10	9	2	3	0	2	0	1	0	3	3	3	2	0	2	4	2	0	2	5	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chrX:1471251G>A	ENST00000331035.4	+	6	817	c.468G>A	c.(466-468)acG>acA	p.T156T	IL3RA_ENST00000381469.2_Silent_p.T78T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	156						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACTACAAAACGGATGCTCAGG	0.602													86	151					0	0	0	0	A	1471251	G	A	1471251	2	1	247	1	0	0	0	0	0	0	0	1	7748	1103	39	1		1	IL3RA	23	1471251	Silent	SNP	G	TCGA-CV-6441-01A-11D-1683-08		1471251	153799309	255	44472											
ZMAT1	84460	broad.mit.edu	37	chrX	101159303	101159303	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcattccaaatggcgTctgtgaataaaaaagggaag	14	10	10	7	1	2	1	1	1	1	0	3	2	3	2	2	2	0	1	2	2	6	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chrX:101159303T>C	ENST00000372782.3	-	3	169	c.121_splice	c.e3-1	p.D41_splice	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Splice_Site_p.D41_splice	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	0						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CCAAATGGCGTCTGTGAATAA	0.299													8	15					0	0	0	0	C	101159303	T	C	101159303	5	2	247	1	0	0	0	0	0	0	1	0	17786	1681	58	5	1814	5	ZMAT1	23	101159303	Splice_Site	SNP	T	TCGA-CV-6441-01A-11D-1683-08	99688052	101159303	54111257	256	44473											
MAGEA4	4103	broad.mit.edu	37	chrX	151092296	151092296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggcaccctggaggaaGtgcctgctgctgagtcagca	7	8	13	13	0	1	1	1	1	0	0	2	3	2	3	3	3	4	4	3	3	1	0			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chrX:151092296G>A	ENST00000370340.3	+	3	427	c.160G>A	c.(160-162)Gtg>Atg	p.V54M	MAGEA4_ENST00000393921.1_Missense_Mutation_p.V54M|MAGEA4_ENST00000370337.4_Missense_Mutation_p.V54M|MAGEA4_ENST00000276344.2_Missense_Mutation_p.V54M|MAGEA4_ENST00000393920.1_Missense_Mutation_p.V54M|MAGEA4_ENST00000360243.2_Missense_Mutation_p.V54M|MAGEA4_ENST00000370335.1_Missense_Mutation_p.V54M			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	54							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGAGGAAGTGCCTGCTGC	0.627													40	10					0	0	0	0	A	151092296	G	A	151092296	3	1	247	1	0	0	0	0	1	0	0	0	9235	1029	36	4	162	4	MAGEA4	23	151092296	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08	49932993	151092296	4178264	257	44474											
FLNA	2316	broad.mit.edu	37	chrX	153596026	153596026	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgggggatgcccagccAgtcatccgcctgctgcatgg	6	8	13	14	1	1	0	1	0	0	0	2	1	2	1	5	3	5	2	5	3	1	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chrX:153596026A>T	ENST00000422373.1	-	4	951	c.703T>A	c.(703-705)Tgg>Agg	p.W235R	FLNA_ENST00000360319.4_Missense_Mutation_p.W235R|FLNA_ENST00000369850.3_Missense_Mutation_p.W235R|FLNA_ENST00000344736.4_Missense_Mutation_p.W235R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	235	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGCCCAGCCAGTCATCCGCC	0.657													60	23					0	0	0	0	T	153596026	A	T	153596026	3	4	247	1	0	0	0	0	1	0	0	0	5978	188	7	5	7420	5	FLNA	23	153596026	Missense_Mutation	SNP	A	TCGA-CV-6441-01A-11D-1683-08	2503730	153596026	1674534	258	44475											
TSPY2	64591	broad.mit.edu	37	chrY	6115622	6115622	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaagaagagaagcatcGtgttcatctctgcaagatca	13	9	12	7	1	3	3	2	0	1	3	5	5	3	4	0	2	2	3	0	2	4	1			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chrY:6115622G>C	ENST00000320701.4	+	3	630	c.584G>C	c.(583-585)cGt>cCt	p.R195P	TSPY2_ENST00000383042.1_Missense_Mutation_p.R195P	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	195					cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus				liver(1)|lung(4)|prostate(1)|skin(1)	7						GAGAAGCATCGTGTTCATCTC	0.443													4	92					0	0	0	0	C	6115622	G	C	6115622	3	2	247	1	0	0	0	0	1	0	0	0	16753	1145	40	3	594	3	TSPY2	24	6115622	Missense_Mutation	SNP	G	TCGA-CV-6441-01A-11D-1683-08		6115622	53257944	259	44476											
TMSB4Y	9087	broad.mit.edu	37	chrY	15816245	15816245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaacctggtatggctgagatCgagaaattcgataagtcgaa	15	9	11	6	3	0	2	0	1	0	2	3	6	0	2	1	2	1	2	1	2	5	3			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chrY:15816245C>G	ENST00000284856.3	+	1	799	c.30C>G	c.(28-30)atC>atG	p.I10M		NM_004202.2	NP_004193.1	O14604	TYB4Y_HUMAN	thymosin beta 4, Y-linked	10					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding										TGGCTGAGATCGAGAAATTCG	0.483													4	5					0	0	0	0	G	15816245	C	G	15816245	3	3	247	1	0	0	0	0	1	0	0	0	16352	874	31	3	32	3	TMSB4Y	24	15816245	Missense_Mutation	SNP	C	TCGA-CV-6441-01A-11D-1683-08	9700623	15816245	43557321	260	44477											
MTOR	2475	broad.mit.edu	37	chr1	11298657	11298657	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccgcacagtggcgaacaaAttgggtcagagagtggcctg	11	7	14	9	2	1	1	1	0	0	1	2	3	2	1	2	3	1	1	2	3	2	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:11298657A>G	ENST00000361445.4	-	12	1880	c.1804T>C	c.(1804-1806)Ttt>Ctt	p.F602L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	602					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGGCGAACAAATTGGGTCAGA	0.532													8	5					0	0	0	0	G	11298657	A	G	11298657	3	3	248	1	0	0	0	0	1	0	0	0	10024	101	4	5	6033	5	MTOR	1	11298657	Missense_Mutation	SNP	A	TCGA-CV-6933-01A-11D-1912-08		11298657	237951964	1	44478											
SYTL1	84958	broad.mit.edu	37	chr1	27677312	27677312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcccgcaggccgagcttcagGgccgcgtgctgagcctgtct	4	8	14	15	4	2	1	1	1	1	0	3	2	3	1	4	2	3	3	4	2	0	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:27677312G>T	ENST00000543823.1	+	10	1495	c.1033G>T	c.(1033-1035)Ggc>Tgc	p.G345C	SYTL1_ENST00000318074.5_Missense_Mutation_p.G333C|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	345	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGAGCTTCAGGGCCGCGTGCT	0.642													20	24					2.70639e-06	1.57495e-05	1	0	T	27677312	G	T	27677312	3	4	248	1	0	0	0	0	1	0	0	0	15573	1232	43	4	1035	4	SYTL1	1	27677312	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	16378655	27677312	221573309	2	44479											
BEND5	79656	broad.mit.edu	37	chr1	49202034	49202034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttccccaaatcataactgCcaagttcttcgtgtacttgg	9	14	7	11	1	2	0	1	0	1	0	4	0	3	0	3	1	3	3	3	1	4	6			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:49202034C>T	ENST00000371833.3	-	5	1071	c.985G>A	c.(985-987)Gca>Aca	p.A329T	AGBL4_ENST00000371839.1_Intron|AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	329	BEN.									large_intestine(5)|lung(2)|skin(1)	8						ATCATAACTGCCAAGTTCTTC	0.483													30	144					0	0	0	0	T	49202034	C	T	49202034	3	4	248	1	0	0	0	0	1	0	0	0	1405	739	26	4	288	4	BEND5	1	49202034	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	21524722	49202034	200048587	3	44480											
MYSM1	114803	broad.mit.edu	37	chr1	59131251	59131251	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaagggattatttcgattaTagggactaacaatcatccca	14	12	8	7	1	1	0	1	0	0	0	3	3	2	2	1	2	1	1	1	2	6	6			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:59131251T>C	ENST00000472487.1	-	17	2123	c.2084A>G	c.(2083-2085)tAt>tGt	p.Y695C	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	695					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ATTTCGATTATAGGGACTAAC	0.333													9	67					0	0	0	0	C	59131251	T	C	59131251	3	2	248	1	0	0	0	0	1	0	0	0	10171	1406	49	5	418	5	MYSM1	1	59131251	Missense_Mutation	SNP	T	TCGA-CV-6933-01A-11D-1912-08	9929217	59131251	190119370	4	44481											
GBP7	388646	broad.mit.edu	37	chr1	89616146	89616146	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtacttcttcaacatggagTaagagttttttgtcatttat	10	18	7	6	1	3	1	2	0	1	1	3	2	3	2	0	1	2	3	0	1	4	9			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:89616146T>A	ENST00000294671.2	-	6	876	c.738A>T	c.(736-738)ttA>ttT	p.L246F		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	246						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CAACATGGAGTAAGAGTTTTT	0.383													22	49					0	0	0	0	A	89616146	T	A	89616146	3	1	248	1	0	0	0	0	1	0	0	0	6328	1635	57	5	1202	5	GBP7	1	89616146	Missense_Mutation	SNP	T	TCGA-CV-6933-01A-11D-1912-08	30484895	89616146	159634475	5	44482											
LPPR4	9890	broad.mit.edu	37	chr1	99772515	99772515	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaacagccccgaaaacacTagaaatatcttctacaaagg	18	6	6	11	1	2	1	0	0	2	1	2	2	2	1	2	1	5	1	2	1	8	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:99772515T>C	ENST00000370185.3	+	7	2738	c.2241T>C	c.(2239-2241)acT>acC	p.T747T	LPPR4_ENST00000457765.1_Silent_p.T689T|LPPR4_ENST00000370184.1_Silent_p.T589T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		747							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCGAAAACACTAGAAATATCT	0.473													23	55					0	0	0	0	C	99772515	T	C	99772515	2	2	248	1	0	0	0	0	0	0	0	1	8991	1509	53	5		5	LPPR4	1	99772515	Silent	SNP	T	TCGA-CV-6933-01A-11D-1912-08	10156369	99772515	149478106	6	44483											
SETDB1	9869	broad.mit.edu	37	chr1	150934615	150934615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttttccaggacactgacGaccgaaacaagatgtcagtg	12	10	9	10	2	2	2	1	1	1	1	3	5	3	3	2	1	1	0	2	1	2	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:150934615G>A	ENST00000271640.5	+	17	3329	c.3139G>A	c.(3139-3141)Gac>Aac	p.D1047N	SETDB1_ENST00000368969.4_Missense_Mutation_p.D1047N	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1047	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGACACTGACGACCGAAACAA	0.438													73	177					0	0	0	0	A	150934615	G	A	150934615	3	1	248	1	0	0	0	0	1	0	0	0	14225	1058	37	1	3201	1	SETDB1	1	150934615	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	51162100	150934615	98316006	7	44484											
FLG	2312	broad.mit.edu	37	chr1	152286148	152286148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcgctgactgcagatgaaGcttgcccgcgcccagtggct	7	8	13	13	3	0	3	0	2	0	1	1	4	0	3	2	1	3	4	2	1	1	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:152286148G>C	ENST00000368799.1	-	3	1249	c.1214C>G	c.(1213-1215)gCt>gGt	p.A405G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	405	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGATGAAGCTTGCCCGCG	0.562									Ichthyosis				140	335					0	0	0	0	C	152286148	G	C	152286148	3	2	248	1	0	0	0	0	1	0	0	0	5967	971	34	4	10975	4	FLG	1	152286148	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	1351533	152286148	96964473	8	44485											
CFHR4	10877	broad.mit.edu	37	chr1	196876522	196876522	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgcaaaaagtgtatctGccatggtcaagagtcgagta	12	10	10	9	2	2	1	1	0	1	1	4	2	3	1	2	1	1	3	2	1	5	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:196876522G>A	ENST00000367416.2	+	5	827	c.690G>A	c.(688-690)ctG>ctA	p.L230L	CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						AAGTGTATCTGCCATGGTCAA	0.428													6	61					0	0	0	0	A	196876522	G	A	196876522	2	1	248	1	0	0	0	0	0	0	0	1	3316	1334	46	4		4	CFHR4	1	196876522	Silent	SNP	G	TCGA-CV-6933-01A-11D-1912-08	44590374	196876522	52374099	9	44486											
PFKFB2	5208	broad.mit.edu	37	chr1	207236550	207236550	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgaggagaatggtcagaTtgcggtaagctttatctgct	10	12	12	7	1	2	3	1	1	1	2	2	4	2	3	0	3	3	3	0	3	3	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:207236550T>C	ENST00000367080.3	+	5	495	c.371T>C	c.(370-372)aTt>aCt	p.I124T	PFKFB2_ENST00000411990.2_Missense_Mutation_p.I26T|PFKFB2_ENST00000367079.2_Missense_Mutation_p.I124T|PFKFB2_ENST00000545806.1_Missense_Mutation_p.I91T	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	124	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					AATGGTCAGATTGCGGTAAGC	0.532													9	98					0	0	0	0	C	207236550	T	C	207236550	3	2	248	1	0	0	0	0	1	0	0	0	11833	1493	52	5	385	5	PFKFB2	1	207236550	Missense_Mutation	SNP	T	TCGA-CV-6933-01A-11D-1912-08	10360028	207236550	42014071	10	44487											
PPP2R5A	5525	broad.mit.edu	37	chr1	212521732	212521732	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcctttttttccctccagtAttatcaatggctttgcattg	6	19	6	10	0	1	0	1	0	0	0	3	0	3	0	3	1	2	3	3	1	3	7			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:212521732A>T	ENST00000261461.2	+	7	1340	c.764_splice	c.e7-1	p.I256_splice	PPP2R5A_ENST00000537030.3_Splice_Site_p.I199_splice	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	256					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TCCCTCCAGTATTATCAATGG	0.368													28	67					0	0	0	0	T	212521732	A	T	212521732	5	4	248	1	0	0	0	0	0	0	1	0	12468	463	16	5	792	5	PPP2R5A	1	212521732	Splice_Site	SNP	A	TCGA-CV-6933-01A-11D-1912-08	5285182	212521732	36728889	11	44488											
BPNT1	10380	broad.mit.edu	37	chr1	220253139	220253139	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctgccttttgagcaataGaatatgcggaggctaccaac	11	11	9	10	1	0	2	0	1	0	1	1	3	1	3	3	2	5	2	3	2	6	6			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:220253139G>C	ENST00000469520.2	-	3	499	c.50C>G	c.(49-51)tCt>tGt	p.S17C	BPNT1_ENST00000354807.3_Missense_Mutation_p.S17C|BPNT1_ENST00000414869.2_Missense_Mutation_p.S17C|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.S17C			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	17					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TTGAGCAATAGAATATGCGGA	0.413													8	56					0	0	0	0	C	220253139	G	C	220253139	3	2	248	1	0	0	0	0	1	0	0	0	1502	942	33	2	908	2	BPNT1	1	220253139	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	7731407	220253139	28997482	12	44489											
WDR64	128025	broad.mit.edu	37	chr1	241958516	241958516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgttttgcagattcgaaGatatcccttggaaggtttcg	8	16	10	7	2	0	2	0	0	0	2	3	4	1	3	1	2	1	3	1	2	3	7			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:241958516G>C	ENST00000366552.2	+	25	3182	c.2975G>C	c.(2974-2976)aGa>aCa	p.R992T	WDR64_ENST00000437684.2_Missense_Mutation_p.R825T	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	992										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CAGATTCGAAGATATCCCTTG	0.428													28	117					0	0	0	0	C	241958516	G	C	241958516	3	2	248	1	0	0	0	0	1	0	0	0	17411	942	33	2	3073	2	WDR64	1	241958516	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	21705377	241958516	7292105	13	44490											
OR2T12	127064	broad.mit.edu	37	chr1	248458107	248458107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacctgtgggatttgggtctCatataggtaaaaatgccagc	11	11	12	7	0	1	0	1	0	1	0	2	2	1	1	2	3	2	1	2	3	5	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:248458107C>T	ENST00000317996.1	-	1	773	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATTTGGGTCTCATATAGGTAA	0.483													50	98					0	0	0	0	T	248458107	C	T	248458107	3	4	248	1	0	0	0	0	1	0	0	0	11090	826	29	2	191	2	OR2T12	1	248458107	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	6499591	248458107	792514	14	44491											
OR2T6	254879	broad.mit.edu	37	chr1	248551197	248551197	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccatctctttcatcgcCtgcactgctcagtgctttct	5	14	8	14	1	4	0	2	0	2	0	6	1	4	1	2	1	3	3	2	1	0	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr1:248551197C>A	ENST00000355728.2	+	1	288	c.288C>A	c.(286-288)gcC>gcA	p.A96A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A96E(1)|p.A96A(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTTCATCGCCTGCACTGCTC	0.532													30	75					3.65163e-15	2.22552e-14	1	0	A	248551197	C	A	248551197	2	1	248	1	0	0	0	0	0	0	0	1	11100	668	24	4		4	OR2T6	1	248551197	Silent	SNP	C	TCGA-CV-6933-01A-11D-1912-08	93090	248551197	699424	15	44492											
NBAS	51594	broad.mit.edu	37	chr2	15415923	15415923	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactcatgttttcatctgtCagctttttgtaattaagacc	9	17	7	8	0	4	1	3	0	1	1	4	2	4	2	1	1	1	3	1	1	2	6			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:15415923C>T	ENST00000281513.5	-	44	5434	c.5409G>A	c.(5407-5409)ctG>ctA	p.L1803L	NBAS_ENST00000441750.1_Silent_p.L1683L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1803										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTTCATCTGTCAGCTTTTTGT	0.363													6	93					0	0	0	0	T	15415923	C	T	15415923	2	4	248	1	0	0	0	0	0	0	0	1	10256	813	29	2		2	NBAS	2	15415923	Silent	SNP	C	TCGA-CV-6933-01A-11D-1912-08		15415923	227783450	16	44493											
AGBL5	60509	broad.mit.edu	37	chr2	27278036	27278036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcatcctccgacctgatgatCcccgggcccaaaccctccgt	7	8	7	19	3	1	2	1	2	0	0	5	3	5	2	8	1	1	0	8	1	1	0			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:27278036C>T	ENST00000360131.4	+	6	982	c.823C>T	c.(823-825)Ccc>Tcc	p.P275S	AGBL5_ENST00000323064.8_Missense_Mutation_p.P275S	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	275					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGATGATCCCCGGGCCCA	0.537													29	189					0	0	0	0	T	27278036	C	T	27278036	3	4	248	1	0	0	0	0	1	0	0	0	378	855	30	2	841	2	AGBL5	2	27278036	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	11862113	27278036	215921337	17	44494											
HEATR5B	54497	broad.mit.edu	37	chr2	37234297	37234298	+	In_Frame_Ins	INS	-	-	AACCAG																															agatgtagaacgtttttgtaINSaaccagatattgctgctgct																										TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:37234297_37234298insAACCAG	ENST00000233099.5	-	29	4767_4768	c.4672_4673insCTGGTT	c.(4672-4674)aca>CTGGTTaca	p.1557_1558insLV	HEATR5B_ENST00000354531.2_In_Frame_Ins_p.1557_1558insLV	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1557							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACGTTTTTGTAAACCAGATATT	0.431													15	110	---	---	---	---					AACCAG	37234298	-	AACCAG	37234297	7	5	248	1	0	1	1	0	0	0	0	0	7082	372	13	0	1574	0	HEATR5B	2	37234297	In_Frame_Ins	INS	-	TCGA-CV-6933-01A-11D-1912-08	9956261	37234297	205965076	18	44495											
DPP10	57628	broad.mit.edu	37	chr2	116510763	116510763	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactagagaatactatatcActatggttaaatgggtaagc	17	11	8	5	0	1	1	1	0	0	1	1	2	1	1	0	2	3	2	0	2	10	7			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:116510763A>C	ENST00000410059.1	+	11	1444	c.964A>C	c.(964-966)Act>Cct	p.T322P	DPP10_ENST00000310323.8_Missense_Mutation_p.T315P|DPP10_ENST00000409163.1_Missense_Mutation_p.T272P|DPP10_ENST00000393147.2_Missense_Mutation_p.T326P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	322					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATACTATATCACTATGGTTAA	0.358													5	34					0	0	0	0	C	116510763	A	C	116510763	3	2	248	1	0	0	0	0	1	0	0	0	4763	159	6	5	1177	5	DPP10	2	116510763	Missense_Mutation	SNP	A	TCGA-CV-6933-01A-11D-1912-08	79276466	116510763	126688610	19	44496											
ZRANB3	84083	broad.mit.edu	37	chr2	136111147	136111147	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattaacagaggccattcctCtttatagaagtaagtaattc	14	14	6	7	0	1	2	0	0	1	2	3	2	2	2	2	1	1	2	2	1	7	9			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:136111147C>G	ENST00000401392.1	-	4	444	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	ZRANB3_ENST00000536680.1_Missense_Mutation_p.E78Q|ZRANB3_ENST00000264159.6_Missense_Mutation_p.E78Q			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	78	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGCCATTCCTCTTTATAGAAG	0.343													3	44					0	0	0	0	G	136111147	C	G	136111147	3	3	248	1	0	0	0	0	1	0	0	0	18317	922	32	2	3079	2	ZRANB3	2	136111147	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	19600384	136111147	107088226	20	44497											
LRP1B	53353	broad.mit.edu	37	chr2	141299370	141299370	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattggtgtcattggcaacAgctatgattcccattggctg	8	14	10	9	0	1	1	1	1	0	0	2	1	2	1	1	3	2	3	1	3	3	6			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:141299370A>T	ENST00000389484.3	-	44	8336	c.7365T>A	c.(7363-7365)gcT>gcA	p.A2455A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2455					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTGGCAACAGCTATGATTC	0.363										TSP Lung(27;0.18)			9	137					0	0	0	0	T	141299370	A	T	141299370	2	4	248	1	0	0	0	0	0	0	0	1	9019	175	7	5		5	LRP1B	2	141299370	Silent	SNP	A	TCGA-CV-6933-01A-11D-1912-08	5188223	141299370	101900003	21	44498											
KCNH7	90134	broad.mit.edu	37	chr2	163228467	163228467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttttctttgccgcaggtGaagctctaaagagagatcac	11	12	10	8	1	3	3	1	1	2	2	3	4	3	3	1	1	2	3	1	1	3	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:163228467G>T	ENST00000332142.5	-	16	3562	c.3463C>A	c.(3463-3465)Cac>Aac	p.H1155N		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1155					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGCCGCAGGTGAAGCTCTAAA	0.428													8	47					1.12685e-05	6.39257e-05	1	0	T	163228467	G	T	163228467	3	4	248	1	0	0	0	0	1	0	0	0	8090	1290	45	2	131	2	KCNH7	2	163228467	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	21929097	163228467	79970906	22	44499											
SCN1A	6323	broad.mit.edu	37	chr2	166901572	166901572	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgtggggaggagtacCtcttttcatatgtcaatcgg	7	13	13	8	1	3	0	2	0	1	0	4	2	3	2	2	5	1	1	2	5	3	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:166901572C>G	ENST00000423058.2	-	10	1660	c.1643G>C	c.(1642-1644)aGg>aCg	p.R548T	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R548T|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R548T|SCN1A_ENST00000303395.4_Missense_Mutation_p.R548T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	548						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGAGGAGTACCTCTTTTCATA	0.433													44	82					0	0	0	0	G	166901572	C	G	166901572	3	3	248	1	0	0	0	0	1	0	0	0	14001	681	24	4	4454	4	SCN1A	2	166901572	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	3673105	166901572	76297801	23	44500											
XIRP2	129446	broad.mit.edu	37	chr2	168115072	168115072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagagtgctgaaaaggaGaaaaatgaaaaaactaacca	21	5	10	5	0	0	4	0	2	0	2	0	5	0	4	1	1	4	2	1	1	8	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr2:168115072G>T	ENST00000409728.1	+	11	2204	c.2115G>T	c.(2113-2115)gaG>gaT	p.E705D	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.E705D|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.E672D|XIRP2_ENST00000409043.1_Missense_Mutation_p.E672D|XIRP2_ENST00000409605.1_Missense_Mutation_p.E450D	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	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						CTGAAAAGGAGAAAAATGAAA	0.348													5	24					1.23904e-05	6.98509e-05	1	0	T	168115072	G	T	168115072	3	4	248	1	0	0	0	0	1	0	0	0	17526	933	33	2	11433	2	XIRP2	2	168115072	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	1213500	168115072	75084301	24	44501											
PDCD6IP	10015	broad.mit.edu	37	chr3	33885692	33885692	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggacaccatccaatgAactgtataagcctttaagag	16	8	8	9	0	0	2	0	1	0	1	1	3	1	3	3	1	2	2	3	1	6	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr3:33885692A>C	ENST00000307296.3	+	11	1825	c.1448A>C	c.(1447-1449)gAa>gCa	p.E483A	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.E488A			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	483	Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CCATCCAATGAACTGTATAAG	0.343													4	63					0	0	0	0	C	33885692	A	C	33885692	3	2	248	1	0	0	0	0	1	0	0	0	11695	246	9	5	1505	5	PDCD6IP	3	33885692	Missense_Mutation	SNP	A	TCGA-CV-6933-01A-11D-1912-08		33885692	164136738	25	44502											
GAP43	2596	broad.mit.edu	37	chr3	115395102	115395102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accactactgccgaagcagcCccagccactggctccaagcc	10	4	8	19	1	0	0	0	0	0	0	1	1	1	0	7	1	6	2	7	1	3	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr3:115395102C>T	ENST00000393780.3	+	3	849	c.381C>T	c.(379-381)gcC>gcT	p.A127A	GAP43_ENST00000305124.6_Silent_p.A91A	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	91					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CCGAAGCAGCCCCAGCCACTG	0.592													9	50					0	0	0	0	T	115395102	C	T	115395102	2	4	248	1	0	0	0	0	0	0	0	1	6284	610	22	4		4	GAP43	3	115395102	Silent	SNP	C	TCGA-CV-6933-01A-11D-1912-08	81509410	115395102	82627328	26	44503											
WDR53	348793	broad.mit.edu	37	chr3	196281606	196281606	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtgactgtgggccttccaTttcttctgtttcatcctcct	4	17	8	12	0	3	1	1	1	2	0	6	1	6	1	4	2	0	1	4	2	0	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr3:196281606T>C	ENST00000332629.5	-	4	1120	c.553A>G	c.(553-555)Atg>Gtg	p.M185V	WDR53_ENST00000433160.1_Missense_Mutation_p.M26V|WDR53_ENST00000429115.1_Missense_Mutation_p.M24V	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	185										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GGGCCTTCCATTTCTTCTGTT	0.438													80	288					0	0	0	0	C	196281606	T	C	196281606	3	2	248	1	0	0	0	0	1	0	0	0	17401	1493	52	5	527	5	WDR53	3	196281606	Missense_Mutation	SNP	T	TCGA-CV-6933-01A-11D-1912-08	80886504	196281606	1740824	27	44504											
CNGA1	1259	broad.mit.edu	37	chr4	47939078	47939078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcacaatcagcaaaaatgCgtaccttttttaatgtgtct	12	15	5	9	1	3	0	2	0	1	0	3	0	3	0	1	0	3	2	1	0	5	5			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr4:47939078C>T	ENST00000402813.3	-	10	1782	c.1640G>A	c.(1639-1641)cGc>cAc	p.R547H	CNGA1_ENST00000514170.1_Missense_Mutation_p.R478H|CNGA1_ENST00000544810.1_Missense_Mutation_p.R478H|CNGA1_ENST00000420489.2_Missense_Mutation_p.R478H|CNGA1_ENST00000358519.4_Missense_Mutation_p.R478H			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	478					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AGCAAAAATGCGTACCTTTTT	0.378													22	92					0	0	0	0	T	47939078	C	T	47939078	3	4	248	1	0	0	0	0	1	0	0	0	3626	768	27	1	643	1	CNGA1	4	47939078	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08		47939078	143215198	28	44505											
ANKRD17	26057	broad.mit.edu	37	chr4	73956863	73956863	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcatcccattggtgtcTgaggcatagggtaagtcact	8	10	15	8	0	2	1	1	1	1	0	3	1	3	1	1	5	0	3	1	5	2	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr4:73956863T>A	ENST00000358602.4	-	29	6598	c.6482A>T	c.(6481-6483)cAg>cTg	p.Q2161L	ANKRD17_ENST00000330838.6_Missense_Mutation_p.Q1910L|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Q2048L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2161					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATTGGTGTCTGAGGCATAGG	0.532													39	170					0	0	0	0	A	73956863	T	A	73956863	3	1	248	1	0	0	0	0	1	0	0	0	646	1580	55	5	1353	5	ANKRD17	4	73956863	Missense_Mutation	SNP	T	TCGA-CV-6933-01A-11D-1912-08	26017785	73956863	117197413	29	44506											
DMP1	1758	broad.mit.edu	37	chr4	88584472	88584472	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgccaagacggctattaGcatcagctgtcctaagaagc	12	8	10	11	1	1	2	1	0	0	2	2	3	2	2	2	1	4	3	2	1	5	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr4:88584472G>C	ENST00000339673.6	+	6	1641	c.1542G>C	c.(1540-1542)taG>taC	p.*514Y	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Nonstop_Mutation_p.*498Y	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	0					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		ACGGCTATTAGCATCAGCTGT	0.373													32	134					0	0	0	0	C	88584472	G	C	88584472	4	2	248	1	0	0	0	0	0	0	0	0	4620	966	34	4	1560	4	DMP1	4	88584472	Nonstop_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	14627609	88584472	102569804	30	44507											
PDHA2	5161	broad.mit.edu	37	chr4	96761919	96761919	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcagatagccgaagctttCaatatggcagctttatggaa	12	10	12	7	1	1	1	1	0	0	1	1	3	1	2	1	3	3	4	1	3	6	5			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr4:96761919C>T	ENST00000295266.4	+	1	681	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	206					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCGAAGCTTTCAATATGGCAG	0.443													14	49					0	0	0	0	T	96761919	C	T	96761919	2	4	248	1	0	0	0	0	0	0	0	1	11736	825	29	2		2	PDHA2	4	96761919	Silent	SNP	C	TCGA-CV-6933-01A-11D-1912-08	8177447	96761919	94392357	31	44508											
CMYA5	202333	broad.mit.edu	37	chr5	79027402	79027402	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatttatcagaagaagaTcaagaagacattggaccttt	17	11	8	5	0	2	6	2	1	0	5	2	7	2	7	1	1	0	0	1	1	6	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr5:79027402T>C	ENST00000446378.2	+	2	2845	c.2814T>C	c.(2812-2814)gaT>gaC	p.D938D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	938						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGAAGAAGATCAAGAAGACA	0.413													48	39					0	0	0	0	C	79027402	T	C	79027402	2	2	248	1	0	0	0	0	0	0	0	1	3620	1432	50	5		5	CMYA5	5	79027402	Silent	SNP	T	TCGA-CV-6933-01A-11D-1912-08		79027402	101887858	32	44509											
GPR98	84059	broad.mit.edu	37	chr5	90041015	90041015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagcaagaatttaatagctCtagtgggagctcattcacat	14	11	8	8	0	3	1	2	0	1	1	3	2	3	2	0	1	3	3	0	1	6	5			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr5:90041015C>G	ENST00000405460.2	+	51	10798	c.10702C>G	c.(10702-10704)Cta>Gta	p.L3568V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3568					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTAATAGCTCTAGTGGGAGC	0.368													40	134					0	0	0	0	G	90041015	C	G	90041015	3	3	248	1	0	0	0	0	1	0	0	0	6771	912	32	2	10904	2	GPR98	5	90041015	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	11013613	90041015	90874245	33	44510											
CYFIP2	26999	broad.mit.edu	37	chr5	156741393	156741393	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagccagaagtcagacgaGgagtatcgcgagctcttcga	12	6	13	10	4	2	2	1	0	1	2	4	7	2	3	1	1	2	2	1	1	2	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr5:156741393G>A	ENST00000347377.6	+	12	1583	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	CYFIP2_ENST00000521420.1_Silent_p.E358E|CYFIP2_ENST00000318218.6_Silent_p.E384E|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Silent_p.E58E|CYFIP2_ENST00000377576.3_Silent_p.E384E|CYFIP2_ENST00000522463.1_Silent_p.E188E|CYFIP2_ENST00000541131.1_Silent_p.E309E	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	384					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTCAGACGAGGAGTATCGCG	0.567													22	35					0	0	0	0	A	156741393	G	A	156741393	2	1	248	1	0	0	0	0	0	0	0	1	4170	991	35	4		4	CYFIP2	5	156741393	Silent	SNP	G	TCGA-CV-6933-01A-11D-1912-08	66700378	156741393	24173867	34	44511											
FGFR4	2264	broad.mit.edu	37	chr5	176519733	176519733	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagtacacctgcctcgcAggcaattccatcggcctctc	7	8	10	16	3	1	0	0	0	1	0	5	1	2	0	4	3	2	3	4	3	2	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr5:176519733A>G	ENST00000292408.4	+	8	1250	c.1005A>G	c.(1003-1005)gcA>gcG	p.A335A	FGFR4_ENST00000502906.1_Silent_p.A335A|FGFR4_ENST00000393648.2_Silent_p.A335A|FGFR4_ENST00000393637.1_Silent_p.A335A|FGFR4_ENST00000292410.3_Silent_p.A335A	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	335	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CCTGCCTCGCAGGCAATTCCA	0.637										TSP Lung(9;0.080)			23	31					0	0	0	0	G	176519733	A	G	176519733	2	3	248	1	0	0	0	0	0	0	0	1	5913	175	7	5		5	FGFR4	5	176519733	Silent	SNP	A	TCGA-CV-6933-01A-11D-1912-08	19778340	176519733	4395527	35	44512											
PRPF4B	8899	broad.mit.edu	37	chr6	4037761	4037761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcgttccccactcagaCgtagcaggtctccaagaaga	10	8	10	13	2	3	3	1	0	2	3	6	3	4	3	3	2	1	3	3	2	3	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:4037761C>T	ENST00000337659.6	+	3	1469	c.1369C>T	c.(1369-1371)Cgt>Tgt	p.R457C	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R443C	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	457	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCCACTCAGACGTAGCAGGTC	0.448													20	41					0	0	0	0	T	4037761	C	T	4037761	3	4	248	1	0	0	0	0	1	0	0	0	12653	536	19	1	1379	1	PRPF4B	6	4037761	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08		4037761	167077306	36	44513											
HIST1H4E	8367	broad.mit.edu	37	chr6	26205025	26205025	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgcatttctggtctcatCtacgaggagactcgcggggt	8	10	13	10	4	3	1	1	0	3	1	5	3	3	1	0	4	2	1	0	4	2	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:26205025C>A	ENST00000360441.4	+	1	168	c.153C>A	c.(151-153)atC>atA	p.I51I		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	51					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CTGGTCTCATCTACGAGGAGA	0.562													38	68					6.99958e-10	4.1537e-09	1	0	A	26205025	C	A	26205025	2	1	248	1	0	0	0	0	0	0	0	1	7219	903	32	2		2	HIST1H4E	6	26205025	Silent	SNP	C	TCGA-CV-6933-01A-11D-1912-08	22167264	26205025	144910042	37	44514											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834842	27834842	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggcttcttcgccttcttcgGagtcttcttcactgcctttt	2	18	8	13	2	5	0	1	0	4	0	7	1	5	1	2	2	1	1	2	2	0	8			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:27834842G>C	ENST00000331442.3	-	1	517	c.466C>G	c.(466-468)Ccg>Gcg	p.P156A		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	156					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCCTTCTTCGGAGTCTTCTTC	0.602													5	231					0	0	0	0	C	27834842	G	C	27834842	3	2	248	1	0	0	0	0	1	0	0	0	7173	1174	41	2	218	2	HIST1H1B	6	27834842	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	1629817	27834842	143280225	38	44515											
ZBTB22	9278	broad.mit.edu	37	chr6	33283873	33283873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagccccaggaaccactGcccccctcccatccccacca	8	3	5	25	0	0	0	0	0	0	0	2	1	2	1	11	1	3	0	11	1	1	0			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:33283873G>A	ENST00000431845.2	-	2	972	c.821C>T	c.(820-822)gCa>gTa	p.A274V	ZBTB22_ENST00000418724.1_Missense_Mutation_p.A274V	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGGAACCACTGCCCCCCTCCC	0.607													12	45					0	0	0	0	A	33283873	G	A	33283873	3	1	248	1	0	0	0	0	1	0	0	0	17625	1319	46	4	1087	4	ZBTB22	6	33283873	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	5449031	33283873	137831194	39	44516											
BYSL	705	broad.mit.edu	37	chr6	41889501	41889501	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcacggcagcaacaggaGgaactcgaggccgagcatgg	13	2	15	11	3	0	0	0	0	0	0	1	4	0	2	1	5	5	4	1	5	3	0			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:41889501G>C	ENST00000230340.4	+	1	576	c.201G>C	c.(199-201)gaG>gaC	p.E67D		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	67					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCAACAGGAGGAACTCGAGG	0.677											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	26					0	0	0	0	C	41889501	G	C	41889501	3	2	248	1	0	0	0	0	1	0	0	0	1585	991	35	4	203	4	BYSL	6	41889501	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	8605628	41889501	129225566	40	44517											
PGM3	5238	broad.mit.edu	37	chr6	83896760	83896760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctagaacagtcacaccatCtattacagattgtgaaagtt	14	12	6	9	0	2	3	1	1	1	2	3	3	3	3	2	0	2	1	2	0	5	5			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:83896760C>T	ENST00000513973.1	-	4	540	c.424G>A	c.(424-426)Gat>Aat	p.D142N	PGM3_ENST00000512866.1_Missense_Mutation_p.D142N|PGM3_ENST00000283977.4_Missense_Mutation_p.D61N|PGM3_ENST00000506587.1_Missense_Mutation_p.D170N	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	142					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GTCACACCATCTATTACAGAT	0.353													20	61					0	0	0	0	T	83896760	C	T	83896760	3	4	248	1	0	0	0	0	1	0	0	0	11872	913	32	2	1244	2	PGM3	6	83896760	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	42007259	83896760	87218307	41	44518											
RRAGD	58528	broad.mit.edu	37	chr6	90097155	90097155	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgttggaaacatcttcccgGcatatcttattagtgctctc	8	15	7	11	1	3	0	0	0	3	0	5	1	4	1	1	2	2	3	1	2	4	5			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:90097155G>T	ENST00000369415.4	-	2	579	c.303C>A	c.(301-303)tgC>tgA	p.C101*	RRAGD_ENST00000359203.2_Intron|RRAGD_ENST00000492783.1_5'UTR	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	101					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	p.C101C(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CATCTTCCCGGCATATCTTAT	0.428													98	190					5.01286e-43	3.16196e-42	1	0	T	90097155	G	T	90097155	4	4	248	1	0	0	0	0	0	1	0	0	13760	1195	42	4	923	4	RRAGD	6	90097155	Nonsense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	6200395	90097155	81017912	42	44519											
WASF1	8936	broad.mit.edu	37	chr6	110421867	110421867	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcacgctgctcttctactTtgcgtagctgaatacctgat	7	15	8	11	2	3	2	1	2	2	0	3	2	3	2	1	0	5	5	1	0	4	6			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:110421867T>C	ENST00000392589.1	-	11	2374	c.1538A>G	c.(1537-1539)aAa>aGa	p.K513R	WASF1_ENST00000359451.2_Missense_Mutation_p.K513R|WASF1_ENST00000392586.1_Missense_Mutation_p.K513R|WASF1_ENST00000392587.2_Missense_Mutation_p.K513R|WASF1_ENST00000392588.1_Missense_Mutation_p.K513R	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	513	WH2.				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CTCTTCTACTTTGCGTAGCTG	0.363													14	27					0	0	0	0	C	110421867	T	C	110421867	3	2	248	1	0	0	0	0	1	0	0	0	17348	1841	64	5	145	5	WASF1	6	110421867	Missense_Mutation	SNP	T	TCGA-CV-6933-01A-11D-1912-08	20324712	110421867	60693200	43	44520											
ROS1	6098	broad.mit.edu	37	chr6	117724426	117724426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcttgaccacataggaCggtctggacacagtctagat	11	8	13	9	1	2	2	0	1	2	1	2	4	2	4	1	5	0	1	1	5	2	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:117724426C>T	ENST00000368508.3	-	6	651	c.453G>A	c.(451-453)ccG>ccA	p.P151P	ROS1_ENST00000368507.3_Silent_p.P160P|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	151	Fibronectin type-III 1.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCACATAGGACGGTCTGGACA	0.473			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								11	26					0	0	0	0	T	117724426	C	T	117724426	2	4	248	1	0	0	0	0	0	0	0	1	13616	523	19	1		1	ROS1	6	117724426	Silent	SNP	C	TCGA-CV-6933-01A-11D-1912-08	7302559	117724426	53390641	44	44521											
PTPRK	5796	broad.mit.edu	37	chr6	128404886	128404886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgagtgatgattccatttgGatccaaaggttctttccagt	9	16	9	7	0	1	3	0	3	1	0	4	4	4	4	3	2	0	1	3	2	1	5			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:128404886G>C	ENST00000368227.3	-	9	1915	c.1549C>G	c.(1549-1551)Cca>Gca	p.P517A	PTPRK_ENST00000532331.1_Missense_Mutation_p.P517A|PTPRK_ENST00000368213.5_Missense_Mutation_p.P517A|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.P517A|PTPRK_ENST00000368210.3_Missense_Mutation_p.P517A|PTPRK_ENST00000368207.3_Missense_Mutation_p.P517A|PTPRK_ENST00000368226.4_Missense_Mutation_p.P517A			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	517	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.P517S(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATTCCATTTGGATCCAAAGGT	0.368													23	99					0	0	0	0	C	128404886	G	C	128404886	3	2	248	1	0	0	0	0	1	0	0	0	12887	1174	41	2	2883	2	PTPRK	6	128404886	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	10680460	128404886	42710181	45	44522											
REPS1	85021	broad.mit.edu	37	chr6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcatggcttacggatcccTttttcacttgccccctgcca	6	14	6	15	1	2	0	2	0	0	0	3	1	3	1	4	2	3	1	4	2	2	5			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478													3	138					0	0	0	0	C	139266690	T	C	139266690	3	2	248	1	0	0	0	0	1	0	0	0	13310	1609	56	5	2040	5	REPS1	6	139266690	Missense_Mutation	SNP	T	TCGA-CV-6933-01A-11D-1912-08	10861804	139266690	31848377	46	44523											
THSD7A	221981	broad.mit.edu	37	chr7	11675953	11675953	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttattcttcccgcgtcTccttgcttgtcttacttgtc	2	21	5	13	2	4	0	0	0	4	0	7	0	5	0	2	0	2	1	2	0	2	9			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:11675953T>A	ENST00000423059.3	-	2	1077	c.826A>T	c.(826-828)Aga>Tga	p.R276*		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	276						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCCCGCGTCTCCTTGCTTGT	0.537										HNSCC(18;0.044)			32	95					0	0	0	0	A	11675953	T	A	11675953	4	1	248	1	0	0	0	0	0	1	0	0	15973	1559	54	5	4251	5	THSD7A	7	11675953	Nonsense_Mutation	SNP	T	TCGA-CV-6933-01A-11D-1912-08		11675953	147462710	47	44524											
STK31	56164	broad.mit.edu	37	chr7	23825129	23825129	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccttacaatgagcttggaAcgagatcttcttgatgctga	10	13	9	9	1	2	4	0	3	2	1	3	6	3	5	1	1	4	2	1	1	3	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:23825129A>G	ENST00000354639.3	+	18	2576	c.2112A>G	c.(2110-2112)gaA>gaG	p.E704E	STK31_ENST00000433467.2_Silent_p.E727E|STK31_ENST00000355870.3_Silent_p.E727E|STK31_ENST00000428484.1_Silent_p.E704E|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	727							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGAGCTTGGAACGAGATCTTC	0.403													35	90					0	0	0	0	G	23825129	A	G	23825129	2	3	248	1	0	0	0	0	0	0	0	1	15386	40	2	5		5	STK31	7	23825129	Silent	SNP	A	TCGA-CV-6933-01A-11D-1912-08	12149176	23825129	135313534	48	44525											
NPC1L1	29881	broad.mit.edu	37	chr7	44556434	44556434	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcaggtccaggcccagcagGaggcaggagacagcgaaggt	11	2	17	11	2	0	1	0	0	0	1	1	4	1	2	2	6	2	3	2	6	1	0			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:44556434G>A	ENST00000289547.4	-	17	3523	c.3468C>T	c.(3466-3468)ctC>ctT	p.L1156L	NPC1L1_ENST00000546276.1_Silent_p.L1083L|NPC1L1_ENST00000381160.3_Silent_p.L1129L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1156					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGCCCAGCAGGAGGCAGGAGA	0.592													14	42					0	0	0	0	A	44556434	G	A	44556434	2	1	248	1	0	0	0	0	0	0	0	1	10641	1161	41	2		2	NPC1L1	7	44556434	Silent	SNP	G	TCGA-CV-6933-01A-11D-1912-08	20731305	44556434	114582229	49	44526											
EGFR	1956	broad.mit.edu	37	chr7	55210124	55210124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaattatgatctttccttCttaaaggttggtgactttga	10	17	9	5	0	2	3	0	3	2	0	3	4	3	4	1	3	0	1	1	3	4	6			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:55210124C>G	ENST00000275493.2	+	2	411	c.234C>G	c.(232-234)ttC>ttG	p.F78L	EGFR_ENST00000442591.1_Missense_Mutation_p.F78L|EGFR_ENST00000420316.2_Missense_Mutation_p.F78L|EGFR_ENST00000342916.3_Missense_Mutation_p.F78L|EGFR_ENST00000344576.2_Missense_Mutation_p.F78L|EGFR_ENST00000454757.2_Missense_Mutation_p.F25L|EGFR_ENST00000455089.1_Missense_Mutation_p.F78L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	78					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATCTTTCCTTCTTAAAGGTTG	0.378		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			12	1031					0	0	0	0	G	55210124	C	G	55210124	3	3	248	1	0	0	0	0	1	0	0	0	5003	912	32	2	240	2	EGFR	7	55210124	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	10653690	55210124	103928539	50	44527											
ZNF479	90827	broad.mit.edu	37	chr7	57188238	57188238	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcttcacatttgtagggtCtctctccagtatgaattctc	8	17	6	10	0	5	1	1	1	4	0	8	1	5	1	1	1	0	2	1	1	3	6			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:57188238C>G	ENST00000331162.4	-	5	1154	c.884G>C	c.(883-885)aGa>aCa	p.R295T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R295I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTGTAGGGTCTCTCTCCAGT	0.473													6	70					0	0	0	0	G	57188238	C	G	57188238	3	3	248	1	0	0	0	0	1	0	0	0	18028	913	32	2	694	2	ZNF479	7	57188238	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	1978114	57188238	101950425	51	44528											
POM121	9883	broad.mit.edu	37	chr7	72413634	72413634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctatctttggcggtgccacGcactcggcgtttgggttgaa	5	12	13	11	4	1	1	0	1	1	0	2	1	1	1	2	4	1	3	2	4	2	4	rs139238552	byFrequency	TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:72413634G>A	ENST00000395270.1	+	14	3348	c.2307G>A	c.(2305-2307)acG>acA	p.T769T	POM121_ENST00000358357.3_Silent_p.T769T|POM121_ENST00000257622.4_Silent_p.T769T|POM121_ENST00000434423.2_Silent_p.T1034T|POM121_ENST00000446813.1_Silent_p.T769T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1034	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCGGTGCCACGCACTCGGCGT	0.652													18	154					0	0	0	0	A	72413634	G	A	72413634	2	1	248	1	0	0	0	0	0	0	0	1	12311	1074	38	1		1	POM121	7	72413634	Silent	SNP	G	TCGA-CV-6933-01A-11D-1912-08	15225396	72413634	86725029	52	44529											
STEAP4	79689	broad.mit.edu	37	chr7	87913172	87913172	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgactggagagcccaggctGagatggtgttaaatgctttt	9	12	13	7	0	0	3	0	2	0	2	0	5	0	3	1	3	2	3	1	3	2	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:87913172G>C	ENST00000380079.4	-	2	514	c.413C>G	c.(412-414)tCa>tGa	p.S138*	STEAP4_ENST00000301959.5_Nonsense_Mutation_p.S138*|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.S138*|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	138					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AGCCCAGGCTGAGATGGTGTT	0.418													404	101					0	0	0	0	C	87913172	G	C	87913172	4	2	248	1	0	0	0	0	0	1	0	0	15370	1294	45	2	982	2	STEAP4	7	87913172	Nonsense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	15499538	87913172	71225491	53	44530											
PIK3CG	5294	broad.mit.edu	37	chr7	106513012	106513012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaccataccatgatagcGcccttgccagatttctgctg	9	12	8	12	1	1	3	0	2	1	1	1	3	1	3	4	0	5	1	4	0	3	5			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:106513012G>A	ENST00000359195.3	+	3	2336	c.2026G>A	c.(2026-2028)Gcc>Acc	p.A676T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A676T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A676T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	676					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATGATAGCGCCCTTGCCAG	0.393													78	116					0	0	0	0	A	106513012	G	A	106513012	3	1	248	1	0	0	0	0	1	0	0	0	11988	1087	38	1	2032	1	PIK3CG	7	106513012	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	18599840	106513012	52625651	54	44531											
NRCAM	4897	broad.mit.edu	37	chr7	107820812	107820813	+	Frame_Shift_Ins	INS	-	-	T																															tgccttggaaggtgaggatcINStttttctcaatgtgacgtct																								rs139634064		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr7:107820812_107820813insT	ENST00000379028.3	-	25	3175_3176	c.2705_2706insA	c.(2704-2706)aatfs	p.N902fs	NRCAM_ENST00000425651.2_Frame_Shift_Ins_p.N902fs|NRCAM_ENST00000413765.2_Frame_Shift_Ins_p.N883fs|NRCAM_ENST00000379022.4_Frame_Shift_Ins_p.N902fs|NRCAM_ENST00000379024.4_Frame_Shift_Ins_p.N883fs|NRCAM_ENST00000351718.4_Frame_Shift_Ins_p.N886fs			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	902	Fibronectin type-III 3.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGGTGAGGATCTTTTTCTCAAT	0.47													17	124	---	---	---	---					T	107820813	-	T	107820812	7	5	248	1	0	1	1	0	0	0	0	0	10715	912	32	0	1274	0	NRCAM	7	107820812	Frame_Shift_Ins	INS	-	TCGA-CV-6933-01A-11D-1912-08	1307800	107820812	51317851	55	44532											
DOCK5	80005	broad.mit.edu	37	chr8	25154152	25154152	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaaggattgaggaaaagatCcaagaagagaaggtacagtt	20	6	12	3	0	0	4	0	1	0	3	1	7	1	6	1	3	1	2	1	3	8	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:25154152C>T	ENST00000276440.7	+	7	638	c.594C>T	c.(592-594)atC>atT	p.I198I	DOCK5_ENST00000481100.1_Silent_p.I198I	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	198						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGAAAAGATCCAAGAAGAGA	0.448													8	14					0	0	0	0	T	25154152	C	T	25154152	2	4	248	1	0	0	0	0	0	0	0	1	4726	845	30	2		2	DOCK5	8	25154152	Silent	SNP	C	TCGA-CV-6933-01A-11D-1912-08		25154152	121209870	56	44533											
CDCA2	157313	broad.mit.edu	37	chr8	25365207	25365207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgggaagggagagagctctCtgactgccttggaaaggatt	11	9	15	6	0	1	2	0	1	1	1	2	7	1	6	1	4	2	1	1	4	2	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:25365207C>G	ENST00000330560.3	+	15	3502	c.3025C>G	c.(3025-3027)Ctg>Gtg	p.L1009V	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.L994V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	1009					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AGAGAGCTCTCTGACTGCCTT	0.433													15	99					0	0	0	0	G	25365207	C	G	25365207	3	3	248	1	0	0	0	0	1	0	0	0	3115	912	32	2	3079	2	CDCA2	8	25365207	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	211055	25365207	120998815	57	44534											
TRPA1	8989	broad.mit.edu	37	chr8	72948640	72948640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaaaatgatgcccgtcGtgtagataatccattcaaga	15	9	8	9	2	1	3	1	1	0	2	3	3	2	3	2	0	1	2	2	0	5	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:72948640G>A	ENST00000262209.4	-	21	2645	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	813						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GATGCCCGTCGTGTAGATAAT	0.363													14	53					0	0	0	0	A	72948640	G	A	72948640	3	1	248	1	0	0	0	0	1	0	0	0	16672	1145	40	1	949	1	TRPA1	8	72948640	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	47583433	72948640	73415382	58	44535											
RIMS2	9699	broad.mit.edu	37	chr8	104987601	104987601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgacatgatggtcgagatCttcaaagctcaacattatca	14	11	7	9	2	4	2	3	1	1	1	6	4	4	2	0	1	2	1	0	1	3	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:104987601C>G	ENST00000507740.1	+	13	2406	c.2170C>G	c.(2170-2172)Ctt>Gtt	p.L724V	RIMS2_ENST00000406091.3_Missense_Mutation_p.L932V|RIMS2_ENST00000262231.10_Missense_Mutation_p.L771V|RIMS2_ENST00000436393.2_Missense_Mutation_p.L710V	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	994	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTCGAGATCTTCAAAGCTC	0.358										HNSCC(12;0.0054)			8	29					0	0	0	0	G	104987601	C	G	104987601	3	3	248	1	0	0	0	0	1	0	0	0	13453	913	32	2	2982	2	RIMS2	8	104987601	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	32038961	104987601	41376421	59	44536											
LRP12	29967	broad.mit.edu	37	chr8	105521276	105521276	+	Frame_Shift_Del	DEL	G	G	-																															gattatgccacttggtgctcGtatttgctctggagtctctc																										TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:105521276delG	ENST00000276654.5	-	3	271	c.163delC	c.(163-165)gafs	p.R55fs	LRP12_ENST00000424843.2_Frame_Shift_Del_p.R36fs	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	55	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.R55G(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGGTGCTCGTATTTGCTCT	0.408													16	103	---	---	---	---					-	105521276	G	-	105521276	7	5	248	1	0	1	0	1	0	0	0	0	9018	1153	40	0	2436	0	LRP12	8	105521276	Frame_Shift_Del	DEL	G	TCGA-CV-6933-01A-11D-1912-08	533675	105521276	40842746	60	44537											
CSMD3	114788	broad.mit.edu	37	chr8	113988168	113988168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggatgaggagagagccCgtccttggacgtgttggggt	6	10	18	7	2	0	2	0	1	0	1	1	6	1	5	2	5	2	2	2	5	0	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:113988168C>A	ENST00000297405.5	-	7	1484	c.1240G>T	c.(1240-1242)Ggg>Tgg	p.G414W	CSMD3_ENST00000352409.3_Missense_Mutation_p.G414W|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.G374W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	414						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGAGAGAGCCCGTCCTTGGAC	0.478										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	117					6.33239e-15	3.83343e-14	1	0	A	113988168	C	A	113988168	3	1	248	1	0	0	0	0	1	0	0	0	3978	652	23	3	10143	3	CSMD3	8	113988168	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	8466892	113988168	32375854	61	44538											
COL22A1	169044	broad.mit.edu	37	chr8	139601580	139601580	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacattggcctgggggaccGggaggtcctgggaggccagg	6	6	19	10	1	1	0	1	0	0	0	2	3	2	3	4	8	0	0	4	8	0	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:139601580G>A	ENST00000303045.6	-	65	5243	c.4797C>T	c.(4795-4797)ccC>ccT	p.P1599P	COL22A1_ENST00000435777.1_Silent_p.P1579P|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1599	Collagen-like 16.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGGGGACCGGGAGGTCCTG	0.622										HNSCC(7;0.00092)			7	36					0	0	0	0	A	139601580	G	A	139601580	2	1	248	1	0	0	0	0	0	0	0	1	3711	1103	39	1		1	COL22A1	8	139601580	Silent	SNP	G	TCGA-CV-6933-01A-11D-1912-08	25613412	139601580	6762442	62	44539											
EEF1D	1936	broad.mit.edu	37	chr8	144671365	144671365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaaggcagagggggcctccCcatcggcccgtcgcagcccg	6	3	15	17	4	0	1	0	0	0	1	3	1	1	1	5	4	1	3	5	4	1	0			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:144671365C>T	ENST00000532741.1	-	1	1265	c.1037G>A	c.(1036-1038)gGg>gAg	p.G346E	EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.G296E|EEF1D_ENST00000442189.2_Missense_Mutation_p.G296E|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000532400.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGGCCTCCCCATCGGCCCG	0.716													4	18					0	0	0	0	T	144671365	C	T	144671365	3	4	248	1	0	0	0	0	1	0	0	0	4962	623	22	4	1088	4	EEF1D	8	144671365	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	5069785	144671365	1692657	63	44540											
ZNF250	58500	broad.mit.edu	37	chr8	146107136	146107136	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgaaggctttgccacattCtgtgcactggaagggctttt	7	13	12	9	0	1	1	0	1	1	0	1	2	1	2	1	3	2	4	1	3	2	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:146107136C>G	ENST00000292579.7	-	6	1563	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.E478Q	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TTGCCACATTCTGTGCACTGG	0.552													7	41					0	0	0	0	G	146107136	C	G	146107136	3	3	248	1	0	0	0	0	1	0	0	0	17890	922	32	2	239	2	ZNF250	8	146107136	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	1435771	146107136	256886	64	44541											
ZNF250	58500	broad.mit.edu	37	chr8	146107269	146107269	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggactctctggtgctggatCaggtgtgagtgctgaacgaa	8	11	15	7	1	2	2	1	2	1	0	3	5	2	4	0	4	3	2	0	4	2	0			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr8:146107269C>G	ENST00000292579.7	-	6	1430	c.1314G>C	c.(1312-1314)ctG>ctC	p.L438L	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Silent_p.L433L	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		GGTGCTGGATCAGGTGTGAGT	0.567													11	62					0	0	0	0	G	146107269	C	G	146107269	2	3	248	1	0	0	0	0	0	0	0	1	17890	813	29	2		2	ZNF250	8	146107269	Silent	SNP	C	TCGA-CV-6933-01A-11D-1912-08	133	146107269	256753	65	44542											
APBA1	320	broad.mit.edu	37	chr9	72131553	72131553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacacgtgctcctggaggcCgccgtagtcggcatagggct	6	8	15	12	4	0	0	0	0	0	0	2	1	1	1	3	4	2	5	3	4	3	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr9:72131553C>T	ENST00000265381.4	-	2	796	c.574G>A	c.(574-576)Ggc>Agc	p.G192S		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	192					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCCTGGAGGCCGCCGTAGTCG	0.687													5	26					0	0	0	0	T	72131553	C	T	72131553	3	4	248	1	0	0	0	0	1	0	0	0	757	652	23	1	1987	1	APBA1	9	72131553	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08		72131553	69081878	66	44543											
SYK	6850	broad.mit.edu	37	chr9	93650902	93650902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcatgaatctgtgctggAcatacgagtgagtacctgac	11	11	10	9	1	2	3	1	3	2	0	3	5	2	4	1	1	3	2	1	1	3	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr9:93650902A>G	ENST00000375754.4	+	13	1976	c.1828A>G	c.(1828-1830)Aca>Gca	p.T610A	SYK_ENST00000375751.4_Missense_Mutation_p.T587A|SYK_ENST00000375747.1_Missense_Mutation_p.T587A|SYK_ENST00000375746.1_Missense_Mutation_p.T610A	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	610	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCTGTGCTGGACATACGAGTG	0.463			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								7	18					0	0	0	0	G	93650902	A	G	93650902	3	3	248	1	0	0	0	0	1	0	0	0	15529	275	10	5	1874	5	SYK	9	93650902	Missense_Mutation	SNP	A	TCGA-CV-6933-01A-11D-1912-08	21519349	93650902	47562529	67	44544											
PAPPA	5069	broad.mit.edu	37	chr9	118997917	118997917	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataggaaattcgtagacatGtaagtgcattctctgaatag	15	12	9	5	1	1	2	0	1	1	1	3	3	1	3	0	1	1	3	0	1	7	6			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr9:118997917G>T	ENST00000328252.3	+	7	3101		c.e7+1		PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1						cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCGTAGACATGTAAGTGCATT	0.507													42	103					5.2432e-18	3.21726e-17	1	0	T	118997917	G	T	118997917	5	4	248	1	0	0	0	0	0	0	1	0	11503	1391	48	4	2759	4	PAPPA	9	118997917	Splice_Site	SNP	G	TCGA-CV-6933-01A-11D-1912-08	25347015	118997917	22215514	68	44545											
CACNA1B	774	broad.mit.edu	37	chr9	140911625	140911625	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaggtactgtatctcgcAgctcatctgtctccagcgtg	6	12	10	13	3	4	0	1	0	3	0	7	1	4	0	1	1	3	4	1	1	2	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr9:140911625A>T	ENST00000277550.3	+	3	175	c.175A>T	c.(175-177)Agc>Tgc	p.S59C	CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371372.1_Intron			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	766					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTATCTCGCAGCTCATCTGT	0.473													13	29					0	0	0	0	T	140911625	A	T	140911625	3	4	248	1	0	0	0	0	1	0	0	0	2564	203	7	5		5	CACNA1B	9	140911625	Missense_Mutation	SNP	A	TCGA-CV-6933-01A-11D-1912-08	21913708	140911625	301806	69	44546											
NMT2	9397	broad.mit.edu	37	chr10	15151773	15151773	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccatctcctataccaaaCttgagtttttccaagaatgt	11	15	5	10	0	1	2	0	1	1	1	3	2	2	2	4	0	3	1	4	0	5	6			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr10:15151773C>G	ENST00000378165.4	-	11	1484	c.1404G>C	c.(1402-1404)aaG>aaC	p.K468N	NMT2_ENST00000466201.1_5'UTR|NMT2_ENST00000540259.1_Missense_Mutation_p.K280N|NMT2_ENST00000378150.1_Missense_Mutation_p.K455N|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.K455N	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	468					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CTATACCAAACTTGAGTTTTT	0.328													14	91					0	0	0	0	G	15151773	C	G	15151773	3	3	248	1	0	0	0	0	1	0	0	0	10574	564	20	4	100	4	NMT2	10	15151773	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08		15151773	120382974	70	44547											
SH2D4B	387694	broad.mit.edu	37	chr10	82363350	82363350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgcgccggtccaaggCggctgatgaggagaggagcc	8	5	17	11	3	0	3	0	2	0	1	2	5	2	4	4	5	2	1	4	5	1	0			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr10:82363350C>T	ENST00000339284.2	+	5	1089	c.659C>T	c.(658-660)gCg>gTg	p.A220V	SH2D4B_ENST00000470604.2_Missense_Mutation_p.A219V|SH2D4B_ENST00000313455.4_Missense_Mutation_p.A171V	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	219	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CGGTCCAAGGCGGCTGATGAG	0.662													5	2					0	0	0	0	T	82363350	C	T	82363350	3	4	248	1	0	0	0	0	1	0	0	0	14323	768	27	1	718	1	SH2D4B	10	82363350	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	67211577	82363350	53171397	71	44548											
OR5F1	338674	broad.mit.edu	37	chr11	55761646	55761646	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgaccatgaagttcagcaaCcctgcagcaaaagccccggc	12	6	9	14	1	1	2	1	2	0	0	1	2	1	2	4	1	5	4	4	1	4	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:55761646C>A	ENST00000278409.1	-	1	455	c.456G>T	c.(454-456)ggG>ggT	p.G152G		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGTTCAGCAACCCTGCAGCAA	0.507													11	60					9.70103e-10	5.71917e-09	1	0	A	55761646	C	A	55761646	2	1	248	1	0	0	0	0	0	0	0	1	11229	494	18	4		4	OR5F1	11	55761646	Silent	SNP	C	TCGA-CV-6933-01A-11D-1912-08		55761646	79244870	72	44549											
GLYATL1	92292	broad.mit.edu	37	chr11	58723492	58723492	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctacccacagaatctagttCcattttagacaatgaagctg	13	11	7	10	0	1	3	0	1	1	2	2	3	2	3	2	0	2	3	2	0	6	5			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:58723492C>G	ENST00000300079.5	+	7	1044	c.994C>G	c.(994-996)Cca>Gca	p.P332A	GLYATL1_ENST00000317391.4_Missense_Mutation_p.P301A|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	301						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GAATCTAGTTCCATTTTAGAC	0.418													3	86					0	0	0	0	G	58723492	C	G	58723492	3	3	248	1	0	0	0	0	1	0	0	0	6531	855	30	2	1020	2	GLYATL1	11	58723492	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	2961846	58723492	76283024	73	44550											
POLR2G	5436	broad.mit.edu	37	chr11	62532822	62532822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctttcagtccatcccttCagagatggagtttgatccta	8	15	7	11	0	2	2	2	1	0	1	6	4	6	3	4	1	0	1	4	1	1	5			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:62532822C>T	ENST00000301788.7	+	5	449	c.344C>T	c.(343-345)tCa>tTa	p.S115L		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	115					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding	p.S115L(1)		lung(3)	3						TCCATCCCTTCAGAGATGGAG	0.458													28	288					0	0	0	0	T	62532822	C	T	62532822	3	4	248	1	0	0	0	0	1	0	0	0	12292	838	29	2	362	2	POLR2G	11	62532822	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	3809330	62532822	72473694	74	44551											
NXF1	10482	broad.mit.edu	37	chr11	62569082	62569082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagggcttgttgggagccatCgtatcgtttgctcatgatca	8	13	12	8	2	2	1	2	1	0	0	4	2	2	2	1	2	2	5	1	2	2	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:62569082C>T	ENST00000531709.2	-	7	774	c.661G>A	c.(661-663)Gat>Aat	p.D221N	NXF1_ENST00000439713.2_Missense_Mutation_p.D221N|NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.D221N|NXF1_ENST00000532297.1_Missense_Mutation_p.D221N	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	221	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGAGCCATCGTATCGTTTG	0.507													18	170					0	0	0	0	T	62569082	C	T	62569082	3	4	248	1	0	0	0	0	1	0	0	0	10853	884	31	1	1313	1	NXF1	11	62569082	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	36260	62569082	72437434	75	44552											
EHD1	10938	broad.mit.edu	37	chr11	64627443	64627443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcattgagcttcctgagggCggcgtttcggggcagtgact	5	11	16	9	3	1	3	1	3	0	0	3	3	2	3	1	4	1	3	1	4	0	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:64627443C>A	ENST00000320631.3	-	3	1122	c.868G>T	c.(868-870)Gcc>Tcc	p.A290S	EHD1_ENST00000359393.2_Missense_Mutation_p.A290S	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	290					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	p.A290T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TTCCTGAGGGCGGCGTTTCGG	0.637													46	32					3.21987e-24	2.01689e-23	1	0	A	64627443	C	A	64627443	3	1	248	1	0	0	0	0	1	0	0	0	5013	768	27	3	748	3	EHD1	11	64627443	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	2058361	64627443	70379073	76	44553											
ALKBH8	91801	broad.mit.edu	37	chr11	107431547	107431547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagcaaagtatgcttggCtttaatctgtttccttaaga	10	16	7	8	0	2	1	1	0	2	1	4	1	3	1	1	1	2	5	1	1	4	6			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:107431547C>T	ENST00000428149.2	-	2	224	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	ALKBH8_ENST00000429370.1_Missense_Mutation_p.A25T|ALKBH8_ENST00000389568.3_Missense_Mutation_p.A25T|ALKBH8_ENST00000417449.2_Missense_Mutation_p.A28T|ALKBH8_ENST00000530933.1_5'UTR	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	25					response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		GTATGCTTGGCTTTAATCTGT	0.348													13	29					0	0	0	0	T	107431547	C	T	107431547	3	4	248	1	0	0	0	0	1	0	0	0	533	797	28	4	1965	4	ALKBH8	11	107431547	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	42804104	107431547	27574969	77	44554											
OR4D5	219875	broad.mit.edu	37	chr11	123811175	123811175	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacccccatgctgaatccTgccatctataccctgagaaa	11	9	6	15	0	2	2	1	2	1	1	3	3	3	2	5	0	3	1	5	0	4	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr11:123811175T>C	ENST00000307033.2	+	1	926	c.852T>C	c.(850-852)ccT>ccC	p.P284P		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGCTGAATCCTGCCATCTATA	0.502													22	86					0	0	0	0	C	123811175	T	C	123811175	2	2	248	1	0	0	0	0	0	0	0	1	11128	1567	55	5		5	OR4D5	11	123811175	Silent	SNP	T	TCGA-CV-6933-01A-11D-1912-08	16379628	123811175	11195341	78	44555											
C3AR1	719	broad.mit.edu	37	chr12	8211391	8211391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgagggacagtgggtggaaCgtgtgagctcctcactgaag	9	9	16	7	1	1	3	1	3	0	0	2	5	2	5	1	3	2	1	1	3	2	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:8211391C>T	ENST00000307637.4	-	2	1594	c.1391G>A	c.(1390-1392)cGt>cAt	p.R464H		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	464					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GTGGGTGGAACGTGTGAGCTC	0.473													34	91					0	0	0	0	T	8211391	C	T	8211391	3	4	248	1	0	0	0	0	1	0	0	0	2225	536	19	1	61	1	C3AR1	12	8211391	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08		8211391	125640504	79	44556											
PHC1	1911	broad.mit.edu	37	chr12	9092018	9092018	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagctgggccctgccctcaAgatctgcgccaagataaatg	11	7	10	13	1	2	2	1	0	1	2	2	2	2	2	3	1	3	1	3	1	5	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:9092018A>T	ENST00000433083.2	+	14	2988	c.2843A>T	c.(2842-2844)aAg>aTg	p.K948M	PHC1_ENST00000544916.1_Missense_Mutation_p.K993M|PHC1_ENST00000536844.1_Missense_Mutation_p.K599M|PHC1_ENST00000543824.1_Missense_Mutation_p.K993M			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	993	SAM.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CCTGCCCTCAAGATCTGCGCC	0.488													13	14					0	0	0	0	T	9092018	A	T	9092018	3	4	248	1	0	0	0	0	1	0	0	0	11888	72	3	5	3032	5	PHC1	12	9092018	Missense_Mutation	SNP	A	TCGA-CV-6933-01A-11D-1912-08	880627	9092018	124759877	80	44557											
PZP	5858	broad.mit.edu	37	chr12	9353588	9353588	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgatgagaggggaaaGgacaactgattgatgccagc	12	7	15	7	0	1	4	0	4	1	1	1	7	1	6	1	4	3	1	1	4	2	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:9353588G>C	ENST00000261336.2	-	6	598	c.570C>G	c.(568-570)tcC>tcG	p.S190S	PZP_ENST00000381997.2_Silent_p.S59S	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGAGGGGAAAGGACAACTGAT	0.498													27	130					0	0	0	0	C	9353588	G	C	9353588	2	2	248	1	0	0	0	0	0	0	0	1	12951	987	35	4		4	PZP	12	9353588	Silent	SNP	G	TCGA-CV-6933-01A-11D-1912-08	261570	9353588	124498307	81	44558											
PRB4	5545	broad.mit.edu	37	chr12	11461798	11461798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtttcctccttgtgggCgtcgtccttctggctttcct	0	17	11	13	2	1	0	0	0	1	0	6	0	5	0	4	3	0	3	4	3	0	4	rs77336955		TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:11461798C>T	ENST00000279575.1	-	3	152	c.119G>A	c.(118-120)cGc>cAc	p.R40H	PRB4_ENST00000445719.2_Missense_Mutation_p.R40H|PRB4_ENST00000535904.1_Missense_Mutation_p.R40H	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	40	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region		p.R40P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TCCTTGTGGGCGTCGTCCTTC	0.552										HNSCC(22;0.051)			33	444					0	0	0	0	T	11461798	C	T	11461798	3	4	248	1	0	0	0	0	1	0	0	0	12525	768	27	1	628	1	PRB4	12	11461798	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	2108210	11461798	122390097	82	44559											
DNM1L	10059	broad.mit.edu	37	chr12	32886735	32886735	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgggctaatgaacaataaTatagaggtaaatataattct	17	13	8	3	0	1	2	0	1	1	1	1	2	1	2	0	2	1	2	0	2	10	8			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:32886735T>C	ENST00000452533.2	+	13	1697	c.1533T>C	c.(1531-1533)aaT>aaC	p.N511N	DNM1L_ENST00000414834.2_Silent_p.N308N|DNM1L_ENST00000547312.1_Silent_p.N511N|DNM1L_ENST00000358214.5_Silent_p.N524N|DNM1L_ENST00000266481.6_Silent_p.N511N|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Silent_p.N524N|DNM1L_ENST00000553257.1_Silent_p.N524N|DNM1L_ENST00000549701.1_Silent_p.N511N	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	511	B domain.|Interaction with GSK3B.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGAACAATAATATAGAGGTAA	0.303													53	148					0	0	0	0	C	32886735	T	C	32886735	2	2	248	1	0	0	0	0	0	0	0	1	4707	1403	49	5		5	DNM1L	12	32886735	Silent	SNP	T	TCGA-CV-6933-01A-11D-1912-08	21424937	32886735	100965160	83	44560											
OR6C1	390321	broad.mit.edu	37	chr12	55714812	55714812	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagtctgcacactgcttgtTtttacttcttggctggtttc	5	18	9	9	0	2	1	0	0	2	1	3	1	2	1	0	2	3	5	0	2	1	7			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:55714812T>G	ENST00000379668.2	+	1	467	c.429T>G	c.(427-429)gtT>gtG	p.V143V		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CACTGCTTGTTTTTACTTCTT	0.408													6	22					0	0	0	0	G	55714812	T	G	55714812	2	3	248	1	0	0	0	0	0	0	0	1	11261	1828	64	5		5	OR6C1	12	55714812	Silent	SNP	T	TCGA-CV-6933-01A-11D-1912-08	22828077	55714812	78137083	84	44561											
COQ10A	93058	broad.mit.edu	37	chr12	56663287	56663287	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaaccacttagagactaTttggcgattcagccctggta	10	12	8	11	1	2	1	2	0	0	1	2	3	2	1	2	2	2	1	2	2	4	6			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:56663287T>C	ENST00000308197.5	+	4	779	c.518T>C	c.(517-519)aTt>aCt	p.I173T	RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000433805.2_Missense_Mutation_p.I141T|COQ10A_ENST00000546544.1_Missense_Mutation_p.I156T	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	173						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						TTAGAGACTATTTGGCGATTC	0.438													22	143					0	0	0	0	C	56663287	T	C	56663287	3	2	248	1	0	0	0	0	1	0	0	0	3773	1493	52	5	574	5	COQ10A	12	56663287	Missense_Mutation	SNP	T	TCGA-CV-6933-01A-11D-1912-08	948475	56663287	77188608	85	44562											
LEMD3	23592	broad.mit.edu	37	chr12	65564805	65564805	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccactacttgtcgatgtttCtcttaactgctgcctgctta	6	16	6	13	1	1	0	0	0	1	0	3	1	1	0	2	0	5	3	2	0	3	5			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:65564805C>G	ENST00000308330.2	+	1	1455	c.1429C>G	c.(1429-1431)Ctc>Gtc	p.L477V	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	477					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GTCGATGTTTCTCTTAACTGC	0.478													23	38					0	0	0	0	G	65564805	C	G	65564805	3	3	248	1	0	0	0	0	1	0	0	0	8774	913	32	2	1431	2	LEMD3	12	65564805	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	8901518	65564805	68287090	86	44563											
PPFIA2	8499	broad.mit.edu	37	chr12	81777935	81777935	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgttctttcatctgggccAtttcatagttttgcttttca	7	19	6	9	1	5	0	3	0	2	0	5	0	5	0	1	1	2	3	1	1	2	8			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:81777935A>T	ENST00000550584.2	-	8	1146	c.851T>A	c.(850-852)aTg>aAg	p.M284K	PPFIA2_ENST00000550359.2_Missense_Mutation_p.M131K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.M284K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.M210K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.M284K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.M266K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.M185K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.M284K|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000333447.7_Missense_Mutation_p.M266K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	210										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CATCTGGGCCATTTCATAGTT	0.413													10	25					0	0	0	0	T	81777935	A	T	81777935	3	4	248	1	0	0	0	0	1	0	0	0	12381	217	8	5	3018	5	PPFIA2	12	81777935	Missense_Mutation	SNP	A	TCGA-CV-6933-01A-11D-1912-08	16213130	81777935	52073960	87	44564											
TMTC3	160418	broad.mit.edu	37	chr12	88589416	88589416	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagattgaacgtattttaaAtggtgaataacattaatatt	17	15	7	2	1	0	3	0	2	0	1	0	4	0	3	0	1	2	1	0	1	8	8			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:88589416A>G	ENST00000266712.6	+	14	2955	c.2735A>G	c.(2734-2736)aAt>aGt	p.N912S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	913						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CGTATTTTAAATGGTGAATAA	0.333													12	50					0	0	0	0	G	88589416	A	G	88589416	3	3	248	1	0	0	0	0	1	0	0	0	16356	101	4	5	2785	5	TMTC3	12	88589416	Missense_Mutation	SNP	A	TCGA-CV-6933-01A-11D-1912-08	6811481	88589416	45262479	88	44565											
TXNRD1	7296	broad.mit.edu	37	chr12	104732985	104732985	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacaaggctttgcagctgcGctcaaatgtggactgaccaa	12	8	10	11	1	1	1	1	1	0	0	1	2	1	2	1	2	3	4	1	2	3	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr12:104732985G>A	ENST00000526691.1	+	14	1977	c.1521G>A	c.(1519-1521)gcG>gcA	p.A507A	TXNRD1_ENST00000397736.2_Silent_p.A499A|TXNRD1_ENST00000524698.1_Silent_p.A455A|TXNRD1_ENST00000378070.4_Silent_p.A554A|TXNRD1_ENST00000529546.1_Silent_p.A417A|TXNRD1_ENST00000427956.1_Silent_p.A570A|TXNRD1_ENST00000540716.1_Silent_p.A417A|TXNRD1_ENST00000526390.1_Silent_p.A499A|TXNRD1_ENST00000542918.1_Silent_p.A505A|TXNRD1_ENST00000526950.1_Silent_p.A524A|TXNRD1_ENST00000354940.6_Silent_p.A455A|TXNRD1_ENST00000525566.1_Silent_p.A605A|TXNRD1_ENST00000503506.2_Silent_p.A455A|TXNRD1_ENST00000388854.3_Silent_p.A507A|TXNRD1_ENST00000429002.2_Silent_p.A605A	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	605					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TTGCAGCTGCGCTCAAATGTG	0.433													9	29					0	0	0	0	A	104732985	G	A	104732985	2	1	248	1	0	0	0	0	0	0	0	1	16903	1074	38	1		1	TXNRD1	12	104732985	Silent	SNP	G	TCGA-CV-6933-01A-11D-1912-08	16143569	104732985	29118910	89	44566											
ZCCHC8	55596	broad.mit.edu	37	chr12	122958362	122958362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgacaaagtgatgtcacCtcagagtctggactggaggc	10	10	12	9	0	4	3	2	2	2	1	4	5	4	5	1	3	0	0	1	3	1	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr12:122958362C>A	ENST00000543897.1	-	12	3447	c.1092G>T	c.(1090-1092)gaG>gaT	p.E364D	ZCCHC8_ENST00000336229.4_Missense_Mutation_p.E602D|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.E213D|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E364D			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	602						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GTGATGTCACCTCAGAGTCTG	0.463													7	250					0.00198382	0.00737359	1	0	A	122958362	C	A	122958362	3	1	248	1	0	0	0	0	1	0	0	0	17689	680	24	4	321	4	ZCCHC8	12	122958362	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	18225377	122958362	10893533	90	44567											
SACS	26278	broad.mit.edu	37	chr13	23910945	23910945	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatgaaaagaaacctttTctgagtcaacatatgcattc	16	13	5	7	0	2	3	1	2	1	1	3	3	2	3	1	0	3	1	1	0	7	5			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:23910945T>A	ENST00000382298.3	-	10	7658	c.7070A>T	c.(7069-7071)gAa>gTa	p.E2357V	SACS_ENST00000402364.1_Missense_Mutation_p.E1607V|SACS_ENST00000382292.3_Missense_Mutation_p.E2357V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2357					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGAAACCTTTTCTGAGTCAAC	0.333													25	50					0	0	0	0	A	23910945	T	A	23910945	3	1	248	1	0	0	0	0	1	0	0	0	13889	1783	62	5	6673	5	SACS	13	23910945	Missense_Mutation	SNP	T	TCGA-CV-6933-01A-11D-1912-08		23910945	91258933	91	44568											
FOXO1	2308	broad.mit.edu	37	chr13	41134865	41134865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgttgttgtccatggatgCagctcttctcctaggagatt	7	15	10	9	0	2	1	0	0	2	1	4	3	3	2	2	2	2	4	2	2	1	5			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:41134865C>T	ENST00000379561.5	-	2	1147	c.763G>A	c.(763-765)Gca>Aca	p.A255T		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	255					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TCCATGGATGCAGCTCTTCTC	0.517													18	149					0	0	0	0	T	41134865	C	T	41134865	3	4	248	1	0	0	0	0	1	0	0	0	6070	710	25	4	1208	4	FOXO1	13	41134865	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	17223920	41134865	74035013	92	44569											
TSC22D1	8848	broad.mit.edu	37	chr13	45148997	45148997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttcacaactctgaacctcGaagtgttaactgttggttgt	10	14	8	9	1	2	1	1	1	1	0	3	2	2	1	1	1	3	3	1	1	4	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:45148997G>A	ENST00000458659.2	-	1	1704	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L	TSC22D1_ENST00000501704.2_Missense_Mutation_p.S405L	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	405					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCTGAACCTCGAAGTGTTAAC	0.438													25	83					0	0	0	0	A	45148997	G	A	45148997	3	1	248	1	0	0	0	0	1	0	0	0	16702	1059	37	1	2148	1	TSC22D1	13	45148997	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	4014132	45148997	70020881	93	44570											
OLFM4	10562	broad.mit.edu	37	chr13	53608558	53608558	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccctgccagacaccaccTttcccgtggacagagtggaa	9	9	9	14	1	0	2	0	0	0	2	2	4	2	4	5	2	1	0	5	2	1	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:53608558T>A	ENST00000219022.2	+	2	358	c.280T>A	c.(280-282)Ttt>Att	p.F94I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	94					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AGACACCACCTTTCCCGTGGA	0.443													10	84					0	0	0	0	A	53608558	T	A	53608558	3	1	248	1	0	0	0	0	1	0	0	0	10926	1609	56	5	286	5	OLFM4	13	53608558	Missense_Mutation	SNP	T	TCGA-CV-6933-01A-11D-1912-08	8459561	53608558	61561320	94	44571											
DIAPH3	81624	broad.mit.edu	37	chr13	60413536	60413536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttctcaagctgttgaagCtgccttcccatctgcctcaa	7	13	6	15	0	3	1	2	1	2	0	6	1	5	1	4	0	4	3	4	0	3	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:60413536C>A	ENST00000400324.4	-	23	3004	c.2784G>T	c.(2782-2784)caG>caT	p.Q928H	DIAPH3_ENST00000400330.1_Missense_Mutation_p.Q928H|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Missense_Mutation_p.Q917H|DIAPH3_ENST00000267215.4_Missense_Mutation_p.Q928H|DIAPH3_ENST00000400319.1_Missense_Mutation_p.Q858H|DIAPH3_ENST00000400320.1_Missense_Mutation_p.Q882H	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	928	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GCTGTTGAAGCTGCCTTCCCA	0.383													16	38					1.15088e-07	6.74085e-07	1	0	A	60413536	C	A	60413536	3	1	248	1	0	0	0	0	1	0	0	0	4557	796	28	4	841	4	DIAPH3	13	60413536	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	6804978	60413536	54756342	95	44572											
SLITRK1	114798	broad.mit.edu	37	chr13	84455394	84455394	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtgcaaactaaccgcAttataaaagttagcgaactc	15	10	6	10	2	0	0	0	0	0	0	2	1	1	0	2	0	5	3	2	0	7	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:84455394A>T	ENST00000377084.2	-	1	1134	c.249T>A	c.(247-249)aaT>aaA	p.N83K		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	83						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AACTAACCGCATTATAAAAGT	0.463													31	65					0	0	0	0	T	84455394	A	T	84455394	3	4	248	1	0	0	0	0	1	0	0	0	14830	214	8	5	1845	5	SLITRK1	13	84455394	Missense_Mutation	SNP	A	TCGA-CV-6933-01A-11D-1912-08	24041858	84455394	30714484	96	44573											
COL4A2	1284	broad.mit.edu	37	chr13	111102707	111102707	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcttcatcggagacccCggcatccctgcgctctacgg	7	7	12	15	4	2	1	1	0	1	1	4	2	3	1	3	4	2	3	3	4	2	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr13:111102707C>G	ENST00000360467.5	+	20	1551	c.1245C>G	c.(1243-1245)ccC>ccG	p.P415P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	415	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.P415P(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCGGAGACCCCGGCATCCCTG	0.637													3	81					0	0	0	0	G	111102707	C	G	111102707	2	3	248	1	0	0	0	0	0	0	0	1	3720	639	23	3		3	COL4A2	13	111102707	Silent	SNP	C	TCGA-CV-6933-01A-11D-1912-08	26647313	111102707	4067171	97	44574											
NID2	22795	broad.mit.edu	37	chr14	52520462	52520462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggccctccatctgggtaggGctggatgcttccgttttcgg	3	13	14	11	2	1	0	0	0	1	0	4	1	3	1	3	5	1	4	3	5	1	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr14:52520462G>T	ENST00000216286.5	-	5	1263	c.1264C>A	c.(1264-1266)Ccc>Acc	p.P422T	NID2_ENST00000541773.1_Missense_Mutation_p.P369T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	422						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCTGGGTAGGGCTGGATGCTT	0.552													23	59					1.10513e-12	6.64554e-12	1	0	T	52520462	G	T	52520462	3	4	248	1	0	0	0	0	1	0	0	0	10485	1203	42	4	2935	4	NID2	14	52520462	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08		52520462	54829078	98	44575											
SYNE2	23224	broad.mit.edu	37	chr14	64468762	64468762	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggccatccagggatttcAtctcattgatgctgatcgca	10	12	9	10	1	2	2	2	2	1	0	5	3	3	3	2	2	1	2	2	2	1	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr14:64468762A>T	ENST00000358025.3	+	29	3979	c.3749A>T	c.(3748-3750)cAt>cTt	p.H1250L	SYNE2_ENST00000554584.1_Missense_Mutation_p.H1250L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.H1250L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1250					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGGGATTTCATCTCATTGAT	0.418													33	81					0	0	0	0	T	64468762	A	T	64468762	3	4	248	1	0	0	0	0	1	0	0	0	15537	217	8	5	3859	5	SYNE2	14	64468762	Missense_Mutation	SNP	A	TCGA-CV-6933-01A-11D-1912-08	11948300	64468762	42880778	99	44576											
ESRRB	2103	broad.mit.edu	37	chr14	76957942	76957942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgaggagcactcccgcCtcgcggggctgctggagctc	5	7	16	13	3	0	1	0	1	0	0	3	4	1	4	2	5	3	4	2	5	0	0			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr14:76957942C>T	ENST00000380887.2	+	6	1012	c.940C>T	c.(940-942)Ctc>Ttc	p.L314F	ESRRB_ENST00000261532.7_Missense_Mutation_p.L314F|ESRRB_ENST00000509242.1_Missense_Mutation_p.L314F|ESRRB_ENST00000556177.1_Missense_Mutation_p.L314F			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	314						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GCACTCCCGCCTCGCGGGGCT	0.592													4	9					0	0	0	0	T	76957942	C	T	76957942	3	4	248	1	0	0	0	0	1	0	0	0	5299	681	24	4	958	4	ESRRB	14	76957942	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	12489180	76957942	30391598	100	44577											
PTPN21	11099	broad.mit.edu	37	chr14	88945598	88945598	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcacgtgcaggaggcgccCgggccccgctctcctcctcg	3	5	14	19	6	1	0	0	0	1	0	4	1	2	1	5	3	1	3	5	3	0	0			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr14:88945598C>G	ENST00000556564.1	-	13	2461	c.2177G>C	c.(2176-2178)cGg>cCg	p.R726P	PTPN21_ENST00000328736.3_Missense_Mutation_p.R726P	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	726						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGGAGGCGCCCGGGCCCCGCT	0.701													3	20					0	0	0	0	G	88945598	C	G	88945598	3	3	248	1	0	0	0	0	1	0	0	0	12868	652	23	3	1375	3	PTPN21	14	88945598	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	11987656	88945598	18403942	101	44578											
MAGEL2	54551	broad.mit.edu	37	chr15	23889583	23889583	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcctgtctaaataggAtgccaccaaattccctgtat	10	12	8	11	0	1	0	0	0	1	0	2	1	2	1	4	2	1	1	4	2	5	5			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr15:23889583A>G	ENST00000532292.1	-	1	1592	c.1498T>C	c.(1498-1500)Tcc>Ccc	p.S500P		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TCTAAATAGGATGCCACCAAA	0.423													5	40					0	0	0	0	G	23889583	A	G	23889583	3	3	248	1	0	0	0	0	1	0	0	0	9258	333	12	5	446	5	MAGEL2	15	23889583	Missense_Mutation	SNP	A	TCGA-CV-6933-01A-11D-1912-08		23889583	78641809	102	44579											
NDN	4692	broad.mit.edu	37	chr15	23931584	23931584	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggcccgggagccccaaaAgaactcgtattcgggcggct	8	6	14	13	4	0	1	0	0	0	1	2	2	0	2	3	4	2	3	3	4	4	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr15:23931584A>G	ENST00000331837.4	-	1	866	c.781T>C	c.(781-783)Ttt>Ctt	p.F261L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	261	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GAGCCCCAAAAGAACTCGTAT	0.572									Prader-Willi syndrome				5	56					0	0	0	0	G	23931584	A	G	23931584	3	3	248	1	0	0	0	0	1	0	0	0	10317	72	3	5	188	5	NDN	15	23931584	Missense_Mutation	SNP	A	TCGA-CV-6933-01A-11D-1912-08	42001	23931584	78599808	103	44580											
PYGO1	26108	broad.mit.edu	37	chr15	55838317	55838317	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtatcacagccccatacTgcagatgcttctgcagttaa	11	10	8	12	0	2	1	1	0	1	1	2	1	2	1	2	1	5	5	2	1	3	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr15:55838317T>A	ENST00000302000.6	-	3	1258	c.1164A>T	c.(1162-1164)gcA>gcT	p.A388A	PYGO1_ENST00000563719.1_Silent_p.A388A	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	388					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		AGCCCCATACTGCAGATGCTT	0.448													25	60					0	0	0	0	A	55838317	T	A	55838317	2	1	248	1	0	0	0	0	0	0	0	1	12945	1567	55	5		5	PYGO1	15	55838317	Silent	SNP	T	TCGA-CV-6933-01A-11D-1912-08	31906733	55838317	46693075	104	44581											
LRRC28	123355	broad.mit.edu	37	chr15	99901641	99901641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtgaaggccatagggacgGagcatgatcacgtcctccct	10	7	13	11	2	1	2	1	2	0	0	3	4	3	4	3	4	1	1	3	4	2	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr15:99901641G>A	ENST00000301981.3	+	8	1036	c.796G>A	c.(796-798)Gag>Aag	p.E266K	LRRC28_ENST00000422500.2_Missense_Mutation_p.E197K|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.E266K|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000442993.2_3'UTR	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	266										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CATAGGGACGGAGCATGATCA	0.522											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	63					0	0	0	0	A	99901641	G	A	99901641	3	1	248	1	0	0	0	0	1	0	0	0	9046	1175	41	2	822	2	LRRC28	15	99901641	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	44063324	99901641	2629751	105	44582											
SMG1	23049	broad.mit.edu	37	chr16	18875116	18875116	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctttatttcctaaataaTttataacctcaggggaagag	14	14	7	6	0	1	1	1	0	0	1	2	2	2	2	2	2	2	1	2	2	7	8			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr16:18875116T>C	ENST00000446231.2	-	25	3963	c.3551A>G	c.(3550-3552)aAt>aGt	p.N1184S	SMG1_ENST00000389467.3_Missense_Mutation_p.N1184S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1184	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCCTAAATAATTTATAACCTC	0.403													13	36					0	0	0	0	C	18875116	T	C	18875116	3	2	248	1	0	0	0	0	1	0	0	0	14883	1493	52	5	7590	5	SMG1	16	18875116	Missense_Mutation	SNP	T	TCGA-CV-6933-01A-11D-1912-08		18875116	71479637	106	44583											
CHST4	10164	broad.mit.edu	37	chr16	71570812	71570812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggagcccgcctggcacGtgtggatgaccttcaagcag	8	8	14	11	2	1	2	1	2	0	0	1	4	1	4	3	3	2	2	3	3	1	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr16:71570812G>A	ENST00000338482.5	+	3	575	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	CHST4_ENST00000572450.1_Missense_Mutation_p.V78M|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.V78M|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	78					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CGCCTGGCACGTGTGGATGAC	0.577													30	62					0	0	0	0	A	71570812	G	A	71570812	3	1	248	1	0	0	0	0	1	0	0	0	3435	1145	40	1	234	1	CHST4	16	71570812	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	52695696	71570812	18783941	107	44584											
OR1A2	26189	broad.mit.edu	37	chr17	3101177	3101177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgcaatggcatacgatcGagctgtggccatcagctgcc	8	8	13	12	2	1	0	1	0	0	0	2	2	1	0	2	3	5	5	2	3	2	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	6107e303-4ebb-4f5e-a281-c3eebba0966b	g.chr17:3101177G>A	ENST00000381951.1	+	1	365	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						GCATACGATCGAGCTGTGGCC	0.483													32	60					0	0	0	0	A	3101177	G	A	3101177	3	1	248	1	0	0	0	0	1	0	0	0	11021	1058	37	1	367	1	OR1A2	17	3101177	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08		3101177	78094033	108	44585											
TP53	7157	broad.mit.edu	37	chr17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccactcggataagatgctGaggaggggccagacctaaga	12	7	13	9	1	0	4	0	1	0	3	2	6	1	6	3	4	1	1	3	4	2	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr17:7578275G>A	ENST00000420246.2	-	6	706	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATAAGATGCTGAGGAGGGGCC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	21					0	0	0	0	A	7578275	G	A	7578275	4	1	248	1	0	0	0	0	0	1	0	0	16476	1299	45	2	720	2	TP53	17	7578275	Nonsense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	4477098	7578275	73616935	109	44586											
KDM6B	23135	broad.mit.edu	37	chr17	7752094	7752094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtttccacccggcctGggcccttgcccaccactcag	5	8	9	19	1	1	0	1	0	0	0	2	0	2	0	6	2	2	2	6	2	0	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr17:7752094G>A	ENST00000254846.5	+	11	2877	c.2488G>A	c.(2488-2490)Ggg>Agg	p.G830R	KDM6B_ENST00000448097.2_Missense_Mutation_p.G830R	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	830	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CACCCGGCCTGGGCCCTTGCC	0.682													9	131					0	0	0	0	A	7752094	G	A	7752094	3	1	248	1	0	0	0	0	1	0	0	0	8190	1348	47	4	2518	4	KDM6B	17	7752094	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	173819	7752094	73443116	110	44587											
ICAM2	3384	broad.mit.edu	37	chr17	62081229	62081229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagagggtgaggctgtccaGgggctccacggtgggcaccc	7	5	18	11	1	0	2	0	1	0	1	2	3	2	2	3	6	0	3	3	6	1	0			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr17:62081229G>T	ENST00000412356.1	-	5	778	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	ICAM2_ENST00000578379.1_Missense_Mutation_p.L41M|ICAM2_ENST00000418105.1_Missense_Mutation_p.L142M|ICAM2_ENST00000578892.1_Missense_Mutation_p.L118M|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000449662.2_Missense_Mutation_p.L142M|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.L142M|ICAM2_ENST00000579687.1_Missense_Mutation_p.L142M	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	142	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						AGGCTGTCCAGGGGCTCCACG	0.607													7	45					0.000157383	0.000881737	1	0	T	62081229	G	T	62081229	3	4	248	1	0	0	0	0	1	0	0	0	7533	991	35	4	411	4	ICAM2	17	62081229	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	54329135	62081229	19113981	111	44588											
MAPK4	5596	broad.mit.edu	37	chr18	48252451	48252451	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggacgagcccacctcaCaacaccccttccgcattgag	10	6	8	17	2	1	2	1	2	0	0	2	4	2	3	5	1	2	1	5	1	1	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr18:48252451C>T	ENST00000400384.2	+	5	2009	c.973C>T	c.(973-975)Caa>Taa	p.Q325*	MAPK4_ENST00000540640.1_Nonsense_Mutation_p.Q114*|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	325					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCCCACCTCACAACACCCCTT	0.582													36	31					0	0	0	0	T	48252451	C	T	48252451	4	4	248	1	0	0	0	0	0	1	0	0	9349	479	17	4	987	4	MAPK4	18	48252451	Nonsense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08		48252451	29824797	112	44589											
CDH19	28513	broad.mit.edu	37	chr18	64172067	64172067	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaattatttgactgcacTgcagaaccaaacatgcatgc	13	10	6	12	0	0	2	0	1	0	1	0	2	0	2	2	0	6	3	2	0	4	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr18:64172067T>A	ENST00000262150.2	-	12	2593	c.2301A>T	c.(2299-2301)gcA>gcT	p.A767A		NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	767					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTGACTGCACTGCAGAACCAA	0.388													18	19					0	0	0	0	A	64172067	T	A	64172067	2	1	248	1	0	0	0	0	0	0	0	1	3133	1567	55	5		5	CDH19	18	64172067	Silent	SNP	T	TCGA-CV-6933-01A-11D-1912-08	15919616	64172067	13905181	113	44590											
FBN3	84467	broad.mit.edu	37	chr19	8191467	8191467	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggctctcctggatcttcagCcagcaggtgcccttggtgct	4	11	12	14	1	3	0	1	0	2	0	4	1	3	1	3	4	4	3	3	4	0	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:8191467C>T	ENST00000600128.1	-	20	2853	c.2439G>A	c.(2437-2439)tgG>tgA	p.W813*	FBN3_ENST00000601739.1_Nonsense_Mutation_p.W813*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.W813*			Q75N90	FBN3_HUMAN	fibrillin 3	813	TB 4.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGATCTTCAGCCAGCAGGTGC	0.677													6	12					0	0	0	0	T	8191467	C	T	8191467	4	4	248	1	0	0	0	0	0	1	0	0	5749	740	26	4	6170	4	FBN3	19	8191467	Nonsense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08		8191467	50937516	114	44591											
OR10H2	26538	broad.mit.edu	37	chr19	15839701	15839701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacctacgcagtcctcaCgcccttcctcagccccatca	8	7	4	22	2	3	0	3	0	0	0	5	0	5	0	7	0	2	1	7	0	1	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:15839701C>T	ENST00000305899.3	+	1	868	c.848C>T	c.(847-849)aCg>aTg	p.T283M		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCAGTCCTCACGCCCTTCCTC	0.547													29	119					0	0	0	0	T	15839701	C	T	15839701	3	4	248	1	0	0	0	0	1	0	0	0	10977	536	19	1	850	1	OR10H2	19	15839701	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	7648234	15839701	43289282	115	44592											
MEF2B	100271849	broad.mit.edu	37	chr19	19260222	19260222	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcagcccgaacttcCgcttggtgaacgtcacctgg	7	11	9	14	3	4	1	3	1	1	0	5	2	5	1	3	2	3	1	3	2	2	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:19260222C>G	ENST00000602424.2	-	5	797	c.71G>C	c.(70-72)cGg>cCg	p.R24P	MEF2B_ENST00000410050.1_Missense_Mutation_p.R24P|MEF2B_ENST00000409447.2_Missense_Mutation_p.R24P|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000424583.2_Missense_Mutation_p.R24P|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R24P|MEF2B_ENST00000162023.5_Missense_Mutation_p.R24P|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R41P|MEF2B_ENST00000409224.1_Missense_Mutation_p.R24P	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CCCGAACTTCCGCTTGGTGAA	0.562													16	54					0	0	0	0	G	19260222	C	G	19260222	3	3	248	1	0	0	0	0	1	0	0	0	9525	652	23	3	1063	3	MEF2B	19	19260222	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	3420521	19260222	39868761	116	44593											
ZNF43	7594	broad.mit.edu	37	chr19	21990434	21990434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtttgaaaaagtttgaGgtgttgtcaaaatcactgtc	12	16	9	4	0	2	2	2	2	0	0	3	2	2	2	0	1	0	3	0	1	5	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:21990434G>A	ENST00000594012.1	-	7	2901	c.2387C>T	c.(2386-2388)cCt>cTt	p.P796L	ZNF43_ENST00000595461.1_Missense_Mutation_p.P796L|ZNF43_ENST00000598381.1_Missense_Mutation_p.P796L|ZNF43_ENST00000354959.4_Missense_Mutation_p.P802L	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AAAAGTTTGAGGTGTTGTCAA	0.313													9	43					0	0	0	0	A	21990434	G	A	21990434	3	1	248	1	0	0	0	0	1	0	0	0	17998	1000	35	4	28	4	ZNF43	19	21990434	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	2730212	21990434	37138549	117	44594											
NR1H2	7376	broad.mit.edu	37	chr19	50881485	50881485	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgctgggccacgagctttgCcgtgtctgtggggacaaggc	6	9	16	10	2	1	0	0	0	1	0	1	2	1	1	2	4	3	2	2	4	1	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:50881485C>T	ENST00000253727.5	+	5	496	c.261C>T	c.(259-261)tgC>tgT	p.C87C	NR1H2_ENST00000598168.1_Silent_p.C87C|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000599105.1_Silent_p.C87C|NR1H2_ENST00000593926.1_Silent_p.C87C	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	87					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACGAGCTTTGCCGTGTCTGTG	0.637													5	161					0	0	0	0	T	50881485	C	T	50881485	2	4	248	1	0	0	0	0	0	0	0	1	10688	747	26	4		4	NR1H2	19	50881485	Silent	SNP	C	TCGA-CV-6933-01A-11D-1912-08	28891051	50881485	8247498	118	44595											
CEACAM18	729767	broad.mit.edu	37	chr19	51984689	51984689	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtcaatgccagctcccTggtggagaacatggattctg	8	10	11	12	1	2	1	1	0	1	1	4	3	4	2	3	3	3	1	3	3	2	1			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr19:51984689T>C	ENST00000396477.4	+	3	464	c.443T>C	c.(442-444)cTg>cCg	p.L148P	CEACAM18_ENST00000451626.1_Missense_Mutation_p.L209P	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	209						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCCAGCTCCCTGGTGGAGAAC	0.507													27	23					0	0	0	0	C	51984689	T	C	51984689	3	2	248	1	0	0	0	0	1	0	0	0	3218	1580	55	5	640	5	CEACAM18	19	51984689	Missense_Mutation	SNP	T	TCGA-CV-6933-01A-11D-1912-08	1103204	51984689	7144294	119	44596											
PLCB4	5332	broad.mit.edu	37	chr20	9364994	9364994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccataacacttatctcactGgcagacagttcggcgggaag	11	8	10	12	2	1	1	1	0	1	1	3	2	1	2	1	3	1	2	1	3	3	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:9364994G>A	ENST00000378501.2	+	11	1015	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S	PLCB4_ENST00000378493.1_Missense_Mutation_p.G334S|PLCB4_ENST00000278655.4_Missense_Mutation_p.G334S|PLCB4_ENST00000414679.2_Missense_Mutation_p.G334S|PLCB4_ENST00000334005.3_Missense_Mutation_p.G334S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.G334S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	334	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTATCTCACTGGCAGACAGTT	0.463													35	71					0	0	0	0	A	9364994	G	A	9364994	3	1	248	1	0	0	0	0	1	0	0	0	12102	1348	47	4	1042	4	PLCB4	20	9364994	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08		9364994	53660526	120	44597											
NKX2-4	644524	broad.mit.edu	37	chr20	21377938	21377938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccccaggccgggtggcgCgccgtccatggcgccgctga	3	4	16	18	7	0	1	0	1	0	0	1	1	1	1	6	4	0	1	6	4	0	0			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:21377938C>T	ENST00000351817.4	-	1	728	c.100G>A	c.(100-102)Gcg>Acg	p.A34T		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	34					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						ccgggtggcgcgccgTCCATG	0.731													4	7					0	0	0	0	T	21377938	C	T	21377938	3	4	248	1	0	0	0	0	1	0	0	0	10522	768	27	1	972	1	NKX2-4	20	21377938	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	12012944	21377938	41647582	121	44598											
NINL	22981	broad.mit.edu	37	chr20	25459583	25459583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgcaggtggctgtgaTgccgcagggccaggccacac	6	7	15	13	1	1	1	0	1	1	0	1	1	1	1	3	4	3	4	3	4	0	0			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:25459583T>C	ENST00000278886.6	-	16	2250	c.2177A>G	c.(2176-2178)cAt>cGt	p.H726R	NINL_ENST00000422516.1_Missense_Mutation_p.H726R	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	726					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTGGCTGTGATGCCGCAGGGC	0.582													33	73					0	0	0	0	C	25459583	T	C	25459583	3	2	248	1	0	0	0	0	1	0	0	0	10490	1464	51	5	2007	5	NINL	20	25459583	Missense_Mutation	SNP	T	TCGA-CV-6933-01A-11D-1912-08	4081645	25459583	37565937	122	44599											
GSS	2937	broad.mit.edu	37	chr20	33524591	33524591	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccttcggtcttggtccaGagaccccttttcagagatat	8	12	9	12	1	2	2	1	0	1	2	4	4	3	2	4	2	1	0	4	2	1	5			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:33524591G>A	ENST00000216951.2	-	8	840	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	GSS_ENST00000541098.1_Silent_p.L120L|GSS_ENST00000451957.2_Silent_p.L137L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	248					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TCTTGGTCCAGAGACCCCTTT	0.473													43	226					0	0	0	0	A	33524591	G	A	33524591	2	1	248	1	0	0	0	0	0	0	0	1	6879	933	33	2		2	GSS	20	33524591	Silent	SNP	G	TCGA-CV-6933-01A-11D-1912-08	8065008	33524591	29500929	123	44600											
EEF1A2	1917	broad.mit.edu	37	chr20	62122079	62122079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccggcccacgggcaccGtgccaatgcctgcagagggg	7	3	14	17	3	0	1	0	0	0	1	0	1	0	1	6	4	3	2	6	4	1	0			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr20:62122079G>A	ENST00000217182.3	-	6	947	c.782C>T	c.(781-783)aCg>aTg	p.T261M	EEF1A2_ENST00000298049.7_Missense_Mutation_p.T261M	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	261						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CACGGGCACCGTGCCAATGCC	0.647													18	41					0	0	0	0	A	62122079	G	A	62122079	3	1	248	1	0	0	0	0	1	0	0	0	4960	1145	40	1	621	1	EEF1A2	20	62122079	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	28597488	62122079	903441	124	44601											
ZDHHC8	29801	broad.mit.edu	37	chr22	20127041	20127041	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggacgacttccgggctccGctgtacaagaacgtggatgt	9	8	14	10	4	0	1	0	0	0	1	2	5	2	3	2	3	2	3	2	3	3	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chr22:20127041G>A	ENST00000334554.7	+	3	408	c.267G>A	c.(265-267)ccG>ccA	p.P89P	ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000320602.7_Silent_p.P89P|ZDHHC8_ENST00000405930.3_Silent_p.P89P	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	89						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TCCGGGCTCCGCTGTACAAGA	0.607													61	44					0	0	0	0	A	20127041	G	A	20127041	2	1	248	1	0	0	0	0	0	0	0	1	17716	1074	38	1		1	ZDHHC8	22	20127041	Silent	SNP	G	TCGA-CV-6933-01A-11D-1912-08		20127041	31177525	125	44602											
ASMT	438	broad.mit.edu	37	chrX	1752052	1752052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccccttccaggtggggctgGagctctggctaaggaatgca	7	9	14	11	0	1	0	0	0	1	0	3	2	3	2	3	6	2	4	3	6	2	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:1752052G>C	ENST00000381241.3	+	7	855	c.656G>C	c.(655-657)gGa>gCa	p.G219A	ASMT_ENST00000381233.3_Intron|ASMT_ENST00000381229.4_Missense_Mutation_p.G191A|RP13-297E16.3_ENST00000509780.1_RNA	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	191					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGGGGCTGGAGCTCTGGCT	0.537													39	172					0	0	0	0	C	1752052	G	C	1752052	3	2	248	1	0	0	0	0	1	0	0	0	1049	1174	41	2	682	2	ASMT	23	1752052	Missense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08		1752052	153518508	126	44603											
NLGN4X	57502	broad.mit.edu	37	chrX	5811511	5811511	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atactggaatatctcgttcaAgttgtgcaaatgaggaacga	14	11	10	6	2	2	1	1	1	1	0	3	4	2	3	0	2	3	3	0	2	6	4			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:5811511A>G	ENST00000381095.3	-	6	2425	c.1798T>C	c.(1798-1800)Ttg>Ctg	p.L600L	NLGN4X_ENST00000381092.1_Silent_p.L600L|NLGN4X_ENST00000381093.2_Silent_p.L620L|NLGN4X_ENST00000538097.1_Silent_p.L600L|NLGN4X_ENST00000275857.6_Silent_p.L600L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	600					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATCTCGTTCAAGTTGTGCAAA	0.483													49	38					0	0	0	0	G	5811511	A	G	5811511	2	3	248	1	0	0	0	0	0	0	0	1	10534	69	3	5		5	NLGN4X	23	5811511	Silent	SNP	A	TCGA-CV-6933-01A-11D-1912-08	4059459	5811511	149459049	127	44604											
FAM47B	170062	broad.mit.edu	37	chrX	34961338	34961338	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgatgaccaagcatccCttggccatgtaccccaatct	10	9	7	15	0	1	2	0	2	1	0	2	2	2	2	5	1	3	3	5	1	3	2			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:34961338C>T	ENST00000329357.5	+	1	426	c.390C>T	c.(388-390)ccC>ccT	p.P130P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	130										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCAAGCATCCCTTGGCCATGT	0.557													40	22					0	0	0	0	T	34961338	C	T	34961338	2	4	248	1	0	0	0	0	0	0	0	1	5617	668	24	4		4	FAM47B	23	34961338	Silent	SNP	C	TCGA-CV-6933-01A-11D-1912-08	29149827	34961338	120309222	128	44605											
COL4A5	1287	broad.mit.edu	37	chrX	107924156	107924156	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggatcagctggccctGagggggaaccgggacttatt	8	9	14	10	1	1	1	1	1	0	0	1	4	1	4	3	5	3	1	3	5	3	3			TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:107924156G>T	ENST00000328300.6	+	46	4301	c.4057G>T	c.(4057-4059)Gag>Tag	p.E1353*	COL4A5_ENST00000361603.2_Nonsense_Mutation_p.E1347*	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1347	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGCTGGCCCTGAGGGGGAACC	0.448									Alport syndrome with Diffuse Leiomyomatosis				51	25					1.86277e-20	1.15877e-19	1	0	T	107924156	G	T	107924156	4	4	248	1	0	0	0	0	0	1	0	0	3724	1291	45	2	4224	2	COL4A5	23	107924156	Nonsense_Mutation	SNP	G	TCGA-CV-6933-01A-11D-1912-08	72962818	107924156	47346404	129	44606											
NKAP	79576	broad.mit.edu	37	chrX	119077333	119077338	+	In_Frame_Del	DEL	CGCGAC	CGCGAC	-																															cagagggccgctctctagaaCgcgaccgcgagcgtgagcgg																										TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:119077333_119077338delCGCGAC	ENST00000371410.3	-	1	397_402	c.231_236delGTCGCG	c.(229-237)cgt>cg	p.RSR77del		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	77	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CTCTCTAGAACGCGACCGCGAGCGTG	0.66													13	9	---	---	---	---					-	119077338	CGCGAC	-	119077333	7	5	248	1	0	1	0	1	0	0	0	0	10509	536	19	0	1047	0	NKAP	23	119077333	In_Frame_Del	DEL	CGCGAC	TCGA-CV-6933-01A-11D-1912-08	11153177	119077333	36193227	130	44607											
CT47B1	643311	broad.mit.edu	37	chrX	120008849	120008849	+	Nonsense_Mutation	SNP	T	T	A																															tgcggcctcctctgggggttTctcatctgcggcctcctccg																										TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:120008849T>A	ENST00000371311.3	-	1	930	c.676A>T	c.(676-678)Aaa>Taa	p.K226*		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	226										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						tctgGGGGTTTCTCATCTGCG	0.706													6	136					0	0	0	0	A	120008849	T	A	120008849	4	1	248	1	0	0	0	0	0	1	0	0	4021	1792	62	5	231	5	CT47B1	23	120008849	Nonsense_Mutation	SNP	T	TCGA-CV-6933-01A-11D-1912-08	931516	120008849	35261711	131	44608	341	2									
CT47B1	643311	broad.mit.edu	37	chrX	120008850	120008850	+	Missense_Mutation	SNP	C	C	G																															gcggcctcctctgggggtttCtcatctgcggcctcctccgc																										TCGA-CV-6933-01A-11D-1912-08	TCGA-CV-6933-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ef4b02e-4d34-4d58-aa2d-65a7f73982d5	dfa4a23b-1955-4187-a694-d6e89adb396b	g.chrX:120008850C>G	ENST00000371311.3	-	1	929	c.675G>C	c.(673-675)gaG>gaC	p.E225D		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	225										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ctgGGGGTTTCTCATCTGCGG	0.701													7	128					0	0	0	0	G	120008850	C	G	120008850	3	3	248	1	0	0	0	0	1	0	0	0	4021	912	32	2	232	2	CT47B1	23	120008850	Missense_Mutation	SNP	C	TCGA-CV-6933-01A-11D-1912-08	1	120008850	35261710	132	44609	341	2									
PRAMEF10	343071	broad.mit.edu	37	chr1	12954474	12954474	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttttatataaagcatcTgggggtagtacaggcagagg	11	13	12	5	0	2	1	0	0	2	1	2	1	2	1	0	4	2	4	0	4	6	7			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:12954474T>A	ENST00000235347.4	-	3	888	c.809A>T	c.(808-810)cAg>cTg	p.Q270L		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	270										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAAAGCATCTGGGGGTAGTA	0.473													41	165					0	0	0	0	A	12954474	T	A	12954474	3	1	249	1	0	0	0	0	1	0	0	0	12502	1580	55	5	623	5	PRAMEF10	1	12954474	Missense_Mutation	SNP	T	TCGA-CV-6934-01A-11D-1912-08		12954474	236296147	1	44610											
CTRC	11330	broad.mit.edu	37	chr1	15771229	15771229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgctgggggcgatggcGtcatctcagcctgcaatgtg	5	10	16	10	3	2	0	2	0	1	0	3	1	2	0	1	3	3	2	1	3	1	0			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:15771229G>A	ENST00000375949.4	+	6	648	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	CTRC_ENST00000375943.2_Intron|CTRC_ENST00000483406.1_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	208	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCGATGGCGTCATCTCAGC	0.612													9	55					0	0	0	0	A	15771229	G	A	15771229	3	1	249	1	0	0	0	0	1	0	0	0	4059	1145	40	1	644	1	CTRC	1	15771229	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	2816755	15771229	233479392	2	44611											
SLC9A1	6548	broad.mit.edu	37	chr1	27427055	27427055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctcttcattcaccaggtCcacagactcgggtgactgcg	8	9	10	14	2	3	2	2	1	1	1	5	2	4	2	2	2	2	1	2	2	0	2			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:27427055C>T	ENST00000263980.3	-	12	2766	c.2191G>A	c.(2191-2193)Gac>Aac	p.D731N	SLC9A1_ENST00000545949.1_Missense_Mutation_p.D392N	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	731					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TTCACCAGGTCCACAGACTCG	0.602													61	246					0	0	0	0	T	27427055	C	T	27427055	3	4	249	1	0	0	0	0	1	0	0	0	14797	855	30	2	260	2	SLC9A1	1	27427055	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08	11655826	27427055	221823566	3	44612											
WASF2	10163	broad.mit.edu	37	chr1	27736225	27736225	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcgctacgggcatcgcTcacggcaggcaaggaggact	9	5	15	12	4	1	0	1	0	0	0	3	2	1	2	0	6	1	5	0	6	2	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:27736225T>A	ENST00000430629.2	-	8	1515	c.1300A>T	c.(1300-1302)Agc>Tgc	p.S434C	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	434					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CGGGCATCGCTCACGGCAGGC	0.577													12	72					0	0	0	0	A	27736225	T	A	27736225	3	1	249	1	0	0	0	0	1	0	0	0	17349	1551	54	5	204	5	WASF2	1	27736225	Missense_Mutation	SNP	T	TCGA-CV-6934-01A-11D-1912-08	309170	27736225	221514396	4	44613											
PHACTR4	65979	broad.mit.edu	37	chr1	28800237	28800237	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gagcacgtgttctatgggctCggaactactaccaatgatct	10	11	10	10	2	2	1	0	1	2	0	3	3	2	2	1	2	4	3	1	2	5	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:28800237C>G	ENST00000373839.3	+	7	1256	c.995C>G	c.(994-996)tCg>tGg	p.S332W	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.S342W	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	332	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCTATGGGCTCGGAACTACTA	0.537													35	122					0	0	0	0	G	28800237	C	G	28800237	3	3	249	1	0	0	0	0	1	0	0	0	11884	893	31	3	1067	3	PHACTR4	1	28800237	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08	1064012	28800237	220450384	5	44614											
AK2	204	broad.mit.edu	37	chr1	33502361	33502361	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctttaccggccccgggAggccccagcagcacggcccg	5	4	13	19	4	0	0	0	0	0	0	1	1	1	1	7	4	3	2	7	4	1	2			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:33502361A>G	ENST00000373449.2	-	1	110	c.69T>C	c.(67-69)ccT>ccC	p.P23P	AK2_ENST00000354858.6_Silent_p.P23P|AK2_ENST00000467905.1_Silent_p.P23P|AK2_ENST00000548033.1_Silent_p.P23P|AK2_ENST00000480134.1_Silent_p.P23P|AK2_ENST00000487289.1_Silent_p.P23P	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	23					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CGGCCCCGGGAGGCCCCAGCA	0.667													2	10					0	0	0	0	G	33502361	A	G	33502361	2	3	249	1	0	0	0	0	0	0	0	1	440	291	11	5		5	AK2	1	33502361	Silent	SNP	A	TCGA-CV-6934-01A-11D-1912-08	4702124	33502361	215748260	6	44615											
ZMYM4	9202	broad.mit.edu	37	chr1	35853113	35853113	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatataagaaaataaataAtgtaatggcaatgtgtgaat	20	12	8	1	0	0	3	0	2	0	1	0	3	0	3	0	1	0	2	0	1	11	5			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:35853113A>T	ENST00000314607.6	+	13	2251	c.2171A>T	c.(2170-2172)aAt>aTt	p.N724I	ZMYM4_ENST00000373297.2_Missense_Mutation_p.N635I	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	724					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAATAAATAATGTAATGGCA	0.318													12	34					0	0	0	0	T	35853113	A	T	35853113	3	4	249	1	0	0	0	0	1	0	0	0	17797	101	4	5	2221	5	ZMYM4	1	35853113	Missense_Mutation	SNP	A	TCGA-CV-6934-01A-11D-1912-08	2350752	35853113	213397508	7	44616											
CHI3L2	1117	broad.mit.edu	37	chr1	111778261	111778261	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtttctttgtttttcctagGagttagcagaagcctttcag	7	17	9	8	1	2	1	1	0	1	1	3	2	3	2	2	1	2	4	2	1	3	7			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:111778261G>T	ENST00000445067.2	+	8	1252	c.480_splice	c.e8-1	p.E161_splice	CHI3L2_ENST00000524472.1_Splice_Site_p.E82_splice|CHI3L2_ENST00000466741.1_Splice_Site_p.E82_splice|CHI3L2_ENST00000369744.2_Splice_Site_p.E151_splice|CHI3L2_ENST00000369748.4_Splice_Site_p.E161_splice			Q15782	CH3L2_HUMAN	chitinase 3-like 2	161					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TTTTTCCTAGGAGTTAGCAGA	0.448													28	79					2.44723e-14	3.09694e-14	1	0	T	111778261	G	T	111778261	5	4	249	1	0	0	0	0	0	0	1	0	3370	1188	41	2	503	2	CHI3L2	1	111778261	Splice_Site	SNP	G	TCGA-CV-6934-01A-11D-1912-08	75925148	111778261	137472360	8	44617											
TADA1	117143	broad.mit.edu	37	chr1	166826916	166826916	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgatcctttcaatgttaAgagcatagacagtatgtgta	13	14	9	5	0	1	4	1	2	0	2	2	4	2	4	1	0	1	4	1	0	5	5			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:166826916A>G	ENST00000367874.4	-	8	989	c.896T>C	c.(895-897)cTt>cCt	p.L299P	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	299					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TTCAATGTTAAGAGCATAGAC	0.438													26	63					0	0	0	0	G	166826916	A	G	166826916	3	3	249	1	0	0	0	0	1	0	0	0	15600	72	3	5	115	5	TADA1	1	166826916	Missense_Mutation	SNP	A	TCGA-CV-6934-01A-11D-1912-08	55048655	166826916	82423705	9	44618											
LAMC1	3915	broad.mit.edu	37	chr1	183095288	183095288	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccttgggctccaccaatggGcagtgtgacatccgcaccgg	7	7	13	14	2	0	1	0	1	0	0	2	1	2	1	5	3	0	3	5	3	1	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:183095288G>A	ENST00000258341.4	+	16	3092	c.2835G>A	c.(2833-2835)ggG>ggA	p.G945G	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	945	Laminin EGF-like 10.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACCAATGGGCAGTGTGACA	0.507													14	41					0	0	0	0	A	183095288	G	A	183095288	2	1	249	1	0	0	0	0	0	0	0	1	8667	1190	42	4		4	LAMC1	1	183095288	Silent	SNP	G	TCGA-CV-6934-01A-11D-1912-08	16268372	183095288	66155333	10	44619											
KCNT2	343450	broad.mit.edu	37	chr1	196197396	196197396	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatcttgaccagtgacattGcagatgctgtttcttcgact	9	14	9	9	1	2	3	0	2	2	1	3	5	2	3	1	0	2	3	1	0	1	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:196197396G>T	ENST00000367433.5	-	27	3395	c.3294C>A	c.(3292-3294)tgC>tgA	p.C1098*	KCNT2_ENST00000367431.4_Nonsense_Mutation_p.C1056*|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.C1122*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1122						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGTGACATTGCAGATGCTGT	0.363													5	23					0.000602214	0.000688933	1	0	T	196197396	G	T	196197396	4	4	249	1	0	0	0	0	0	1	0	0	8145	1311	46	4	45	4	KCNT2	1	196197396	Nonsense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	13102108	196197396	53053225	11	44620											
CNTN2	6900	broad.mit.edu	37	chr1	205034950	205034950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatctgaccatcctgaacGcccagctgcgccatgggggg	7	6	15	13	2	1	2	0	2	1	0	2	3	2	3	4	4	3	1	4	4	1	0			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:205034950G>A	ENST00000331830.4	+	14	2013	c.1729G>A	c.(1729-1731)Gcc>Acc	p.A577T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	577	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATCCTGAACGCCCAGCTGCG	0.642													15	53					0	0	0	0	A	205034950	G	A	205034950	3	1	249	1	0	0	0	0	1	0	0	0	3671	1087	38	1	1779	1	CNTN2	1	205034950	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	8837554	205034950	44215671	12	44621											
ACBD3	64746	broad.mit.edu	37	chr1	226334387	226334387	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttgtcaaacttgaggagaTagactcctctccctggatat	11	12	9	9	0	2	3	1	1	1	2	4	5	3	4	2	2	1	1	2	2	3	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:226334387T>C	ENST00000366812.5	-	8	1565	c.1511A>G	c.(1510-1512)tAt>tGt	p.Y504C		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	504	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CTTGAGGAGATAGACTCCTCT	0.453													18	81					0	0	0	0	C	226334387	T	C	226334387	3	2	249	1	0	0	0	0	1	0	0	0	123	1406	49	5	79	5	ACBD3	1	226334387	Missense_Mutation	SNP	T	TCGA-CV-6934-01A-11D-1912-08	21299437	226334387	22916234	13	44622											
OBSCN	84033	broad.mit.edu	37	chr1	228431117	228431117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgccggggactacagctgcGaggccaggggccagagggtc	8	4	18	11	2	0	1	0	0	0	1	1	3	0	2	3	6	4	1	3	6	1	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:228431117G>A	ENST00000570156.2	+	11	3513	c.3439G>A	c.(3439-3441)Gag>Aag	p.E1147K	OBSCN_ENST00000284548.11_Missense_Mutation_p.E1055K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.E1055K|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	83	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.E1055K(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTACAGCTGCGAGGCCAGGGG	0.552													8	35					0	0	0	0	A	228431117	G	A	228431117	3	1	249	1	0	0	0	0	1	0	0	0	10883	1059	37	1	3197	1	OBSCN	1	228431117	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	2096730	228431117	20819504	14	44623											
TRIM17	51127	broad.mit.edu	37	chr1	228596742	228596742	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctacgaaggcacagtgaaTagccagtgaccgtcaccagg	12	5	11	13	2	1	2	1	2	0	0	1	3	1	2	4	2	2	1	4	2	4	2			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:228596742T>C	ENST00000456946.2	-	6	1389	c.1014A>G	c.(1012-1014)ctA>ctG	p.L338L	TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000295033.3_Intron|TRIM17_ENST00000366698.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GCACAGTGAATAGCCAGTGAC	0.572													3	14					0	0	0	0	C	228596742	T	C	228596742	2	2	249	1	0	0	0	0	0	0	0	1	16588	1393	49	5		5	TRIM17	1	228596742	Silent	SNP	T	TCGA-CV-6934-01A-11D-1912-08	165625	228596742	20653879	15	44624											
ZNF512	84450	broad.mit.edu	37	chr2	27822849	27822849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcagggaggaagcaacGgcctaaaactcagcccaatc	14	6	10	11	1	2	0	2	0	0	0	3	2	2	2	2	3	4	1	2	3	6	2			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:27822849G>A	ENST00000355467.4	+	5	469	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	ZNF512_ENST00000413371.2_Missense_Mutation_p.R52Q|ZNF512_ENST00000379717.1_Missense_Mutation_p.R128Q|ZNF512_ENST00000556601.1_Missense_Mutation_p.G40S|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000416005.2_Intron			Q96ME7	ZN512_HUMAN	zinc finger protein 512	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGGAAGCAACGGCCTAAAACT	0.473													6	18					0	0	0	0	A	27822849	G	A	27822849	3	1	249	1	0	0	0	0	1	0	0	0	18051	1116	39	1	404	1	ZNF512	2	27822849	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08		27822849	215376524	16	44625											
NEB	4703	broad.mit.edu	37	chr2	152375496	152375496	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagaactggcaagttggcTtgtattcaggacatgattca	12	12	10	7	0	2	2	2	1	0	1	2	3	2	3	0	3	2	4	0	3	4	6			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:152375496T>G	ENST00000397345.3	-	155	22880	c.22678A>C	c.(22678-22680)Agc>Cgc	p.S7560R	NEB_ENST00000603639.1_Missense_Mutation_p.S7560R|NEB_ENST00000604864.1_Missense_Mutation_p.S7560R|NEB_ENST00000409198.1_Missense_Mutation_p.S5859R|NEB_ENST00000172853.10_Missense_Mutation_p.S5859R|NEB_ENST00000427231.2_Missense_Mutation_p.S7560R	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5859					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCAAGTTGGCTTGTATTCAGG	0.423													5	32					0	0	0	0	G	152375496	T	G	152375496	3	3	249	1	0	0	0	0	1	0	0	0	10372	1609	56	5	3011	5	NEB	2	152375496	Missense_Mutation	SNP	T	TCGA-CV-6934-01A-11D-1912-08	124552647	152375496	90823877	17	44626											
XIRP2	129446	broad.mit.edu	37	chr2	168106357	168106357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagggaaacttccaggaagtGaagaaaaaaatcagggacca	19	4	12	6	0	1	2	1	1	0	1	2	6	2	5	2	3	1	0	2	3	6	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:168106357G>A	ENST00000409195.1	+	9	8544	c.8455G>A	c.(8455-8457)Gaa>Aaa	p.E2819K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2819K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2597K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2644					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						TCCAGGAAGTGAAGAAAAAAA	0.393													8	32					0	0	0	0	A	168106357	G	A	168106357	3	1	249	1	0	0	0	0	1	0	0	0	17526	1291	45	2	8485	2	XIRP2	2	168106357	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	15730861	168106357	75093016	18	44627											
TLK1	9874	broad.mit.edu	37	chr2	171906348	171906348	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagattctgaaatgcaaaaCcatctgtccattgttcagta	14	12	6	9	0	3	2	1	1	2	1	4	2	4	2	2	0	2	3	2	0	5	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:171906348C>G	ENST00000442919.2	-	10	1427	c.812G>C	c.(811-813)gGt>gCt	p.G271A	TLK1_ENST00000360843.3_Missense_Mutation_p.G340A|TLK1_ENST00000434911.2_Missense_Mutation_p.G223A|TLK1_ENST00000521943.1_Missense_Mutation_p.G271A|TLK1_ENST00000431350.2_Missense_Mutation_p.G319A	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	319					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AAATGCAAAACCATCTGTCCA	0.348													12	49					0	0	0	0	G	171906348	C	G	171906348	3	3	249	1	0	0	0	0	1	0	0	0	16037	507	18	4	1392	4	TLK1	2	171906348	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08	3799991	171906348	71293025	19	44628											
TTN	7273	broad.mit.edu	37	chr2	179483053	179483053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtaaactcacaactctctGcacggtctgtggccagaacc	11	8	8	14	1	3	1	1	0	2	1	4	1	3	1	2	2	4	2	2	2	4	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:179483053G>T	ENST00000589042.1	-	252	47356	c.47132C>A	c.(47131-47133)gCa>gAa	p.A15711E	TTN_ENST00000342992.6_Missense_Mutation_p.A13143E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A6838E|TTN_ENST00000591111.1_Missense_Mutation_p.A14070E|TTN_ENST00000359218.5_Missense_Mutation_p.A6771E|TTN_ENST00000460472.2_Missense_Mutation_p.A6646E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14070	Ig-like 98.						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)			ACAACTCTCTGCACGGTCTGT	0.463													15	87					6.31663e-08	7.6549e-08	1	0	T	179483053	G	T	179483053	3	4	249	1	0	0	0	0	1	0	0	0	16831	1319	46	4	61005	4	TTN	2	179483053	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	7576705	179483053	63716320	20	44629											
TTN	7273	broad.mit.edu	37	chr2	179549086	179549086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggaggcgcctcttttttaGttacagcaacaagaactttt	10	15	8	8	1	1	1	0	0	1	1	1	2	1	2	1	2	4	2	1	2	5	7			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:179549086G>A	ENST00000589042.1	-	132	32917	c.32693C>T	c.(32692-32694)aCt>aTt	p.T10898I	TTN_ENST00000342992.6_Missense_Mutation_p.T9654I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T10581I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10581	Glu-rich.|Pro-rich.						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)			CTCTTTTTTAGTTACAGCAAC	0.398													4	36					0	0	0	0	A	179549086	G	A	179549086	3	1	249	1	0	0	0	0	1	0	0	0	16831	1029	36	4	71760	4	TTN	2	179549086	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	66033	179549086	63650287	21	44630											
SOX2	6657	broad.mit.edu	37	chr3	181430873	181430873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctcttggctccatgggttCggtggtcaagtccgaggcca	5	10	15	11	2	2	0	1	0	1	0	5	1	4	0	3	6	0	3	3	6	1	2			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr3:181430873C>T	ENST00000325404.1	+	1	1152	c.725C>T	c.(724-726)tCg>tTg	p.S242L	SOX2_ENST00000431565.2_Missense_Mutation_p.S242L	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	242					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			TCCATGGGTTCGGTGGTCAAG	0.652			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						16	95					0	0	0	0	T	181430873	C	T	181430873	3	4	249	1	0	0	0	0	1	0	0	0	15037	893	31	1	727	1	SOX2	3	181430873	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08		181430873	16591557	22	44631											
ABCG2	9429	broad.mit.edu	37	chr4	89052340	89052340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaagttttctctcaccGtcagagtgcccatcacaaca	11	11	6	13	1	4	1	3	0	1	1	5	1	4	1	2	0	2	2	2	0	2	3			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr4:89052340G>T	ENST00000237612.3	-	5	949	c.404C>A	c.(403-405)aCg>aAg	p.T135K	ABCG2_ENST00000515655.1_Missense_Mutation_p.T135K	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	135	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TTCTCTCACCGTCAGAGTGCC	0.378													10	88					0.00621372	0.00678291	1	0	T	89052340	G	T	89052340	3	4	249	1	0	0	0	0	1	0	0	0	69	1145	40	3	1611	3	ABCG2	4	89052340	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08		89052340	102101936	23	44632											
METTL14	57721	broad.mit.edu	37	chr4	119621732	119621732	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttagaaattgatgagattGcagcacctcgatcatttatt	13	14	8	6	1	1	3	1	2	0	2	2	5	1	3	1	0	2	3	1	0	3	6			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr4:119621732G>C	ENST00000388822.4	+	8	840	c.673G>C	c.(673-675)Gca>Cca	p.A225P	METTL14_ENST00000506780.1_Missense_Mutation_p.A187P			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	225						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TGATGAGATTGCAGCACCTCG	0.348													8	51					0	0	0	0	C	119621732	G	C	119621732	3	2	249	1	0	0	0	0	1	0	0	0	9567	1319	46	4	703	4	METTL14	4	119621732	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	30569392	119621732	71532544	24	44633											
SEC24D	9871	broad.mit.edu	37	chr4	119727067	119727067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggtgttggtggcataaaCttgtcctcctctgctggctc	4	15	11	11	0	2	0	0	0	2	0	5	0	4	0	2	4	2	4	2	4	2	3			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr4:119727067C>G	ENST00000379735.5	-	7	1118	c.847G>C	c.(847-849)Gtt>Ctt	p.V283L	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.V282L	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	282	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GTGGCATAAACTTGTCCTCCT	0.428													19	52					0	0	0	0	G	119727067	C	G	119727067	3	3	249	1	0	0	0	0	1	0	0	0	14084	565	20	4	2322	4	SEC24D	4	119727067	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08	105335	119727067	71427209	25	44634											
CTNND2	1501	broad.mit.edu	37	chr5	11082866	11082866	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcgcagtggccaccgcGcacaccacacggtcattgtc	8	5	11	17	5	1	0	1	0	0	0	2	0	1	0	3	2	1	3	3	2	0	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr5:11082866G>A	ENST00000304623.8	-	16	2919	c.2730C>T	c.(2728-2730)tgC>tgT	p.C910C	CTNND2_ENST00000458100.2_Silent_p.C477C|CTNND2_ENST00000511377.1_Silent_p.C819C|CTNND2_ENST00000503622.1_Silent_p.C573C|CTNND2_ENST00000359640.2_Silent_p.C852C|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	910					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.C910C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCCACCGCGCACACCACAC	0.527													20	77					0	0	0	0	A	11082866	G	A	11082866	2	1	249	1	0	0	0	0	0	0	0	1	4052	1079	38	1		1	CTNND2	5	11082866	Silent	SNP	G	TCGA-CV-6934-01A-11D-1912-08		11082866	169832394	26	44635											
CRHBP	1393	broad.mit.edu	37	chr5	76251503	76251503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatggttggattctcaaggGggagaagttccccagttccc	8	11	13	9	0	1	2	1	1	1	1	4	4	3	3	3	4	0	3	3	4	2	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr5:76251503G>A	ENST00000274368.4	+	4	781	c.359G>A	c.(358-360)gGg>gAg	p.G120E	CRHBP_ENST00000506501.1_Missense_Mutation_p.G120E	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	120					female pregnancy|learning or memory|signal transduction	soluble fraction		p.G120E(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		ATTCTCAAGGGGGAGAAGTTC	0.458													14	52					0	0	0	0	A	76251503	G	A	76251503	3	1	249	1	0	0	0	0	1	0	0	0	3900	1232	43	4	373	4	CRHBP	5	76251503	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	65168637	76251503	104663757	27	44636											
HMMR	3161	broad.mit.edu	37	chr5	162900509	162900509	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaatattgttatattaTctaaacaagtagaagatcta	18	13	7	3	0	2	3	0	0	2	3	2	4	2	3	0	1	1	2	0	1	11	8			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr5:162900509T>G	ENST00000416990.2	+	9	1002	c.505T>G	c.(505-507)Tct>Gct	p.S169A	HMMR_ENST00000393915.4_Missense_Mutation_p.S284A|HMMR_ENST00000358715.3_Missense_Mutation_p.S283A|HMMR_ENST00000353866.3_Missense_Mutation_p.S268A|HMMR_ENST00000432118.2_Missense_Mutation_p.S197A			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	283						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TGTTATATTATCTAAACAAGT	0.289													5	45					0	0	0	0	G	162900509	T	G	162900509	3	3	249	1	0	0	0	0	1	0	0	0	7292	1435	50	5	884	5	HMMR	5	162900509	Missense_Mutation	SNP	T	TCGA-CV-6934-01A-11D-1912-08	86649006	162900509	18014751	28	44637											
MAK	4117	broad.mit.edu	37	chr6	10830857	10830857	+	Frame_Shift_Del	DEL	G	G	-																															atacgtgccgtcccccaactGtctcatggttgtgtatcggt																										TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:10830857delG	ENST00000313243.2	-	2	407	c.25delC	c.(25-27)agfs	p.Q9fs	MAK_ENST00000474039.1_Frame_Shift_Del_p.Q9fs|MAK_ENST00000536370.1_Frame_Shift_Del_p.Q9fs|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000538030.1_Frame_Shift_Del_p.Q9fs|MAK_ENST00000354489.2_Frame_Shift_Del_p.Q9fs			P20794	MAK_HUMAN	male germ cell-associated kinase	9	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TCCCCCAACTGTCTCATGGTT	0.438													17	86	---	---	---	---					-	10830857	G	-	10830857	7	5	249	1	0	1	0	1	0	0	0	0	9266	1386	48	0	1898	0	MAK	6	10830857	Frame_Shift_Del	DEL	G	TCGA-CV-6934-01A-11D-1912-08		10830857	160284210	29	44638											
PRL	5617	broad.mit.edu	37	chr6	22290542	22290542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatacagaggctcattccagGatcgcaatatgctgactatc	12	10	9	10	1	1	2	1	1	0	1	4	4	2	3	1	2	2	3	1	2	4	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:22290542G>T	ENST00000306482.1	-	4	871	c.353C>A	c.(352-354)tCc>tAc	p.S118Y	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	118				S -> P (in Ref. 6; AAB70858).	cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CTCATTCCAGGATCGCAATAT	0.428													4	48					0.000602214	0.000688933	1	0	T	22290542	G	T	22290542	3	4	249	1	0	0	0	0	1	0	0	0	12608	1174	41	2	338	2	PRL	6	22290542	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	11459685	22290542	148824525	30	44639											
HIST1H3F	8968	broad.mit.edu	37	chr6	26250638	26250638	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccagacgctggaatggtaGcttgcgaatcagtagctcag	11	9	12	9	2	2	1	2	0	0	1	2	3	2	2	1	2	4	5	1	2	5	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:26250638G>A	ENST00000446824.2	-	1	197	c.196C>T	c.(196-198)Cta>Tta	p.L66L		NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	66					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						TGGAATGGTAGCTTGCGAATC	0.612											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	117					0	0	0	0	A	26250638	G	A	26250638	2	1	249	1	0	0	0	0	0	0	0	1	7210	962	34	4		4	HIST1H3F	6	26250638	Silent	SNP	G	TCGA-CV-6934-01A-11D-1912-08	3960096	26250638	144864429	31	44640											
MAS1L	116511	broad.mit.edu	37	chr6	29455526	29455526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcattcgtctcattttgaaGaaagacgccacagagctgag	12	11	9	9	2	2	5	2	2	1	3	4	5	2	5	1	0	1	1	1	0	2	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:29455526G>A	ENST00000377127.3	-	1	212	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	52						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCATTTTGAAGAAAGACGCCA	0.507													20	56					0	0	0	0	A	29455526	G	A	29455526	3	1	249	1	0	0	0	0	1	0	0	0	9390	942	33	2	984	2	MAS1L	6	29455526	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	3204888	29455526	141659541	32	44641											
TNXB	7148	broad.mit.edu	37	chr6	32020730	32020730	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggggctccggggcctcCgtgctgggttctgtgggggc	1	9	20	11	2	2	0	1	0	1	0	4	0	4	0	3	7	1	3	3	7	0	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:32020730C>T	ENST00000375244.3	-	26	9033	c.8832G>A	c.(8830-8832)acG>acA	p.T2944T	TNXB_ENST00000375247.2_Silent_p.T2942T			P22105	TENX_HUMAN	tenascin XB	2989	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGGGGCCTCCGTGCTGGGTT	0.657													14	100					0	0	0	0	T	32020730	C	T	32020730	2	4	249	1	0	0	0	0	0	0	0	1	16440	639	23	1		1	TNXB	6	32020730	Silent	SNP	C	TCGA-CV-6934-01A-11D-1912-08	2565204	32020730	139094337	33	44642											
HLA-DMB	3109	broad.mit.edu	37	chr6	32906579	32906579	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgctgtgagaggacattCgccaagctattcagcacccc	10	8	11	12	1	1	1	1	1	0	1	2	3	1	2	3	2	3	3	3	2	2	3			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:32906579C>T	ENST00000416244.2	-	2	413	c.219G>A	c.(217-219)gcG>gcA	p.A73A	XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.A105A|HLA-DMB_ENST00000418107.2_Silent_p.A73A			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	73	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		p.A73A(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGAGGACATTCGCCAAGCTAT	0.527													17	96					0	0	0	0	T	32906579	C	T	32906579	2	4	249	1	0	0	0	0	0	0	0	1	7249	871	31	1		1	HLA-DMB	6	32906579	Silent	SNP	C	TCGA-CV-6934-01A-11D-1912-08	885849	32906579	138208488	34	44643											
ENPP4	22875	broad.mit.edu	37	chr6	46107985	46107985	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacttagtccaaagactcaAgatgttagggctatgggaaa	14	10	11	6	0	1	3	1	1	0	2	2	4	2	4	1	2	0	2	1	2	6	3			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:46107985A>G	ENST00000321037.4	+	2	895	c.665A>G	c.(664-666)aAg>aGg	p.K222R		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	222						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CAAAGACTCAAGATGTTAGGG	0.408													17	68					0	0	0	0	G	46107985	A	G	46107985	3	3	249	1	0	0	0	0	1	0	0	0	5170	72	3	5	667	5	ENPP4	6	46107985	Missense_Mutation	SNP	A	TCGA-CV-6934-01A-11D-1912-08	13201406	46107985	125007082	35	44644											
RIPPLY2	134701	broad.mit.edu	37	chr6	84563844	84563844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggccctggaatgaccgcagCctcaggaaagctttaccaat	11	8	10	12	1	1	1	1	1	0	0	1	3	1	3	4	3	3	2	4	3	4	2			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:84563844C>T	ENST00000369689.1	+	3	354	c.203C>T	c.(202-204)gCc>gTc	p.A68V	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.A10V	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	68					somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						ATGACCGCAGCCTCAGGAAAG	0.587													10	56					0	0	0	0	T	84563844	C	T	84563844	3	4	249	1	0	0	0	0	1	0	0	0	13470	739	26	4	213	4	RIPPLY2	6	84563844	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08	38455859	84563844	86551223	36	44645											
ARID1B	57492	broad.mit.edu	37	chr6	157525122	157525122	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcactgttgctactttcaatCtctcccaggtaagccagcat	9	12	7	13	0	2	0	1	0	1	0	4	0	3	0	2	1	4	5	2	1	3	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:157525122C>G	ENST00000346085.5	+	19	5018	c.5017C>G	c.(5017-5019)Ctc>Gtc	p.L1673V	ARID1B_ENST00000367148.1_Missense_Mutation_p.L1713V|ARID1B_ENST00000350026.5_Missense_Mutation_p.L1660V|ARID1B_ENST00000275248.4_Missense_Mutation_p.L1655V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1660					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TACTTTCAATCTCTCCCAGGT	0.428													75	258					0	0	0	0	G	157525122	C	G	157525122	3	3	249	1	0	0	0	0	1	0	0	0	916	913	32	2	5091	2	ARID1B	6	157525122	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08	72961278	157525122	13589945	37	44646											
MLLT4	4301	broad.mit.edu	37	chr6	168281147	168281147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctgtggctgaagctttaGagaagtatggtctggaaaaa	12	12	13	4	0	1	2	0	1	1	1	1	4	1	3	0	3	2	4	0	3	6	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:168281147G>C	ENST00000366806.2	+	6	989	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	MLLT4_ENST00000392108.3_Missense_Mutation_p.E283Q|MLLT4_ENST00000351017.4_Missense_Mutation_p.E283Q|MLLT4_ENST00000447894.2_Missense_Mutation_p.E283Q|MLLT4_ENST00000344191.4_Missense_Mutation_p.E283Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.E282Q|MLLT4_ENST00000400822.3_Missense_Mutation_p.E282Q			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	283	Ras-associating 2.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGAAGCTTTAGAGAAGTATGG	0.383			T	MLL	AL								16	157					0	0	0	0	C	168281147	G	C	168281147	3	2	249	1	0	0	0	0	1	0	0	0	9698	943	33	2	869	2	MLLT4	6	168281147	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	10756025	168281147	2833920	38	44647											
RBAK	57786	broad.mit.edu	37	chr7	5103363	5103363	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacctgatagagagaatccaAgaaaacgaagacaaacattc	20	5	8	8	1	0	5	0	1	0	4	2	8	1	5	2	0	2	0	2	0	7	2			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:5103363A>G	ENST00000396912.1	+	5	795	c.276A>G	c.(274-276)caA>caG	p.Q92Q	RBAK_ENST00000353796.3_Silent_p.Q92Q|RBAK_ENST00000407184.1_Silent_p.Q92Q|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGAGAATCCAAGAAAACGAAG	0.353													4	20					0	0	0	0	G	5103363	A	G	5103363	2	3	249	1	0	0	0	0	0	0	0	1	13182	69	3	5		5	RBAK	7	5103363	Silent	SNP	A	TCGA-CV-6934-01A-11D-1912-08		5103363	154035300	39	44648											
RHBDD2	57414	broad.mit.edu	37	chr7	75517439	75517439	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggccctcctgcacccccggGcacatgcccaccttgcctcc	4	7	8	22	1	0	0	0	0	0	0	2	0	2	0	8	2	3	2	8	2	0	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:75517439G>A	ENST00000318622.4	+	5	1073	c.444G>A	c.(442-444)ggG>ggA	p.G148G	RHBDD2_ENST00000428119.1_Silent_p.G148G|RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000006777.6_Silent_p.G289G	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	289						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						GCACCCCCGGGCACATGCCCA	0.647													4	152					0	0	0	0	A	75517439	G	A	75517439	2	1	249	1	0	0	0	0	0	0	0	1	13400	1190	42	4		4	RHBDD2	7	75517439	Silent	SNP	G	TCGA-CV-6934-01A-11D-1912-08	70414076	75517439	83621224	40	44649											
SAMD9L	219285	broad.mit.edu	37	chr7	92762824	92762824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaatccttttctgctaaaaCggaatggatggcattttgta	12	14	8	7	1	1	0	0	0	1	0	2	2	2	2	1	3	2	3	1	3	5	6			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:92762824C>T	ENST00000318238.4	-	5	3677	c.2461G>A	c.(2461-2463)Gtt>Att	p.V821I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.V821I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.V821I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	821										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTGCTAAAACGGAATGGATG	0.383													20	52					0	0	0	0	T	92762824	C	T	92762824	3	4	249	1	0	0	0	0	1	0	0	0	13912	536	19	1	2297	1	SAMD9L	7	92762824	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08	17245385	92762824	66375839	41	44650											
LMTK2	22853	broad.mit.edu	37	chr7	97821898	97821898	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatcagataatcttatgcaCcaagataattttgatccatt	14	15	4	8	0	2	3	1	1	1	2	3	3	3	3	2	0	1	1	2	0	5	7			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:97821898C>T	ENST00000297293.5	+	11	2414	c.2121C>T	c.(2119-2121)caC>caT	p.H707H		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	707					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATCTTATGCACCAAGATAATT	0.363													14	75					0	0	0	0	T	97821898	C	T	97821898	2	4	249	1	0	0	0	0	0	0	0	1	8914	506	18	4		4	LMTK2	7	97821898	Silent	SNP	C	TCGA-CV-6934-01A-11D-1912-08	5059074	97821898	61316765	42	44651											
LRGUK	136332	broad.mit.edu	37	chr7	133886291	133886291	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attagagaataccttggattGactgaggaacctgccaagag	14	9	11	7	0	0	4	0	2	0	2	0	7	0	6	3	2	3	0	3	2	5	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:133886291G>C	ENST00000285928.2	+	15	1875	c.1806G>C	c.(1804-1806)ttG>ttC	p.L602F		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	602							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ACCTTGGATTGACTGAGGAAC	0.388													7	48					0	0	0	0	C	133886291	G	C	133886291	3	2	249	1	0	0	0	0	1	0	0	0	9007	1281	45	2	1864	2	LRGUK	7	133886291	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	36064393	133886291	25252372	43	44652											
ERI1	90459	broad.mit.edu	37	chr8	8869134	8869134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagagagcaattttgctGacagttattatgactacatt	14	14	8	5	0	0	4	0	3	0	1	0	5	0	4	0	0	3	3	0	0	5	6			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:8869134G>T	ENST00000523898.1	+	4	1049	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	ERI1_ENST00000519292.1_Missense_Mutation_p.D124Y|ERI1_ENST00000250263.7_Missense_Mutation_p.D124Y			Q8IV48	ERI1_HUMAN	exoribonuclease 1	124					gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	CAATTTTGCTGACAGTTATTA	0.348													17	30					1.02788e-11	1.27815e-11	1	0	T	8869134	G	T	8869134	3	4	249	1	0	0	0	0	1	0	0	0	5265	1290	45	2	380	2	ERI1	8	8869134	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08		8869134	137494888	44	44653											
ZFHX4	79776	broad.mit.edu	37	chr8	77763207	77763207	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aagaatgaggagcagaaaccGactaaagaacccttggaagt	18	5	11	7	1	0	4	0	1	0	3	0	7	0	6	2	2	3	1	2	2	7	2			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:77763207G>C	ENST00000521891.2	+	10	4498	c.4050G>C	c.(4048-4050)ccG>ccC	p.P1350P	ZFHX4_ENST00000050961.6_Silent_p.P1305P|ZFHX4_ENST00000455469.2_Silent_p.P1305P|ZFHX4_ENST00000518282.1_Silent_p.P1324P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1305						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCAGAAACCGACTAAAGAAC	0.398										HNSCC(33;0.089)			8	32					0	0	0	0	C	77763207	G	C	77763207	2	2	249	1	0	0	0	0	0	0	0	1	17730	1045	37	3		3	ZFHX4	8	77763207	Silent	SNP	G	TCGA-CV-6934-01A-11D-1912-08	68894073	77763207	68600815	45	44654											
NBN	4683	broad.mit.edu	37	chr8	90949281	90949281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatcagcaagagactctTcttttgcatgttgattttgt	9	17	8	7	0	4	2	2	1	2	1	4	4	4	2	0	0	2	3	0	0	1	6			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:90949281T>C	ENST00000265433.3	-	15	2361	c.2207A>G	c.(2206-2208)gAa>gGa	p.E736G	NBN_ENST00000409330.1_Missense_Mutation_p.E654G	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	736					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AAGAGACTCTTCTTTTGCATG	0.299								Homologous recombination					6	30					0	0	0	0	C	90949281	T	C	90949281	3	2	249	1	0	0	0	0	1	0	0	0	10261	1783	62	5	65	5	NBN	8	90949281	Missense_Mutation	SNP	T	TCGA-CV-6934-01A-11D-1912-08	13186074	90949281	55414741	46	44655											
INTS8	55656	broad.mit.edu	37	chr8	95839504	95839504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaagtttgtctgttccaGtattgaatatgctactaaat	11	17	6	7	0	2	1	1	1	1	0	3	1	3	1	1	0	2	4	1	0	7	8			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:95839504G>A	ENST00000523731.1	+	3	452	c.319G>A	c.(319-321)Gta>Ata	p.V107I	INTS8_ENST00000447247.1_Missense_Mutation_p.V107I	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	107					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GTCTGTTCCAGTATTGAATAT	0.383													35	60					0	0	0	0	A	95839504	G	A	95839504	3	1	249	1	0	0	0	0	1	0	0	0	7837	1029	36	4	329	4	INTS8	8	95839504	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	4890223	95839504	50524518	47	44656											
TG	7038	broad.mit.edu	37	chr8	133925427	133925427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaggggaccactttggcaCctctcccaggacatggtttg	8	9	11	13	0	1	0	0	0	1	0	2	2	1	2	4	5	0	2	4	5	1	2			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:133925427C>A	ENST00000220616.4	+	20	4335	c.4295C>A	c.(4294-4296)aCc>aAc	p.T1432N	TG_ENST00000377869.1_Missense_Mutation_p.T1432N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1432					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CACTTTGGCACCTCTCCCAGG	0.557													15	57					2.23348e-06	2.66157e-06	1	0	A	133925427	C	A	133925427	3	1	249	1	0	0	0	0	1	0	0	0	15907	507	18	4	4373	4	TG	8	133925427	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08	38085923	133925427	12438595	48	44657											
TIGD5	84948	broad.mit.edu	37	chr8	144680434	144680436	+	In_Frame_Del	DEL	GAG	GAG	-																															agaagatgcggctggccaacGaggaggagatcgaccgcgcc																										TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:144680434_144680436delGAG	ENST00000321385.3	+	1	361_363	c.214_216delGAG	c.(214-216)del	p.E74del	TIGD5_ENST00000504548.2_In_Frame_Del_p.E123del			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	123					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCTGGCCAACGAGGAGGAGATCG	0.704													10	36	---	---	---	---					-	144680436	GAG	-	144680434	7	5	249	1	0	1	0	1	0	0	0	0	15993	1059	37	0	363	0	TIGD5	8	144680434	In_Frame_Del	DEL	GAG	TCGA-CV-6934-01A-11D-1912-08	10755007	144680434	1683588	49	44658											
TMEM2	23670	broad.mit.edu	37	chr9	74364981	74364981	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggagcatattttgaggaTattcctaaaatgattgcaag	13	14	9	5	0	1	2	0	2	1	0	2	4	2	4	1	2	2	2	1	2	5	7			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr9:74364981T>C	ENST00000377044.4	-	2	848	c.309A>G	c.(307-309)atA>atG	p.I103M	TMEM2_ENST00000377066.5_Missense_Mutation_p.I103M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	103						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATTTTGAGGATATTCCTAAAA	0.294													6	29					0	0	0	0	C	74364981	T	C	74364981	3	2	249	1	0	0	0	0	1	0	0	0	16215	1396	49	5	3934	5	TMEM2	9	74364981	Missense_Mutation	SNP	T	TCGA-CV-6934-01A-11D-1912-08		74364981	66848450	50	44659											
SVEP1	79987	broad.mit.edu	37	chr9	113233781	113233781	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctttgttgagagtccttTtcagtttatttgtgatagtt	6	21	10	4	0	2	2	1	2	1	1	3	3	3	2	1	1	0	3	1	1	2	9			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr9:113233781T>C	ENST00000401783.2	-	16	3197	c.2861A>G	c.(2860-2862)aAa>aGa	p.K954R	SVEP1_ENST00000302728.8_Missense_Mutation_p.K954R|SVEP1_ENST00000374469.1_Missense_Mutation_p.K931R|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	954					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAGAGTCCTTTTCAGTTTATT	0.403													3	40					0	0	0	0	C	113233781	T	C	113233781	3	2	249	1	0	0	0	0	1	0	0	0	15510	1841	64	5	7986	5	SVEP1	9	113233781	Missense_Mutation	SNP	T	TCGA-CV-6934-01A-11D-1912-08	38868800	113233781	27979650	51	44660											
GTF3C4	9329	broad.mit.edu	37	chr9	135554721	135554722	+	Frame_Shift_Ins	INS	-	-	T																															gaaagcagtggagtcacctaINStttttggcgttttaagcttt																										TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr9:135554721_135554722insT	ENST00000372146.4	+	2	2279_2280	c.1715_1716insT	c.(1714-1716)tttfs	p.F572fs		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	572					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GGAGTCACCTATTTTTGGCGTT	0.371													36	160	---	---	---	---					T	135554722	-	T	135554721	7	5	249	1	0	1	1	0	0	0	0	0	6925	449	16	0	1721	0	GTF3C4	9	135554721	Frame_Shift_Ins	INS	-	TCGA-CV-6934-01A-11D-1912-08	22320940	135554721	5658710	52	44661											
FRMD4A	55691	broad.mit.edu	37	chr10	13698719	13698719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaggaggtgctgtactgcGagccgctgtccgaggaggtg	6	7	20	8	3	0	0	0	0	0	0	1	5	1	3	2	5	4	3	2	5	1	1	rs143274194		TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:13698719G>A	ENST00000357447.2	-	22	3238	c.2870C>T	c.(2869-2871)tCg>tTg	p.S957L	FRMD4A_ENST00000358621.4_Missense_Mutation_p.S942L|FRMD4A_ENST00000378503.1_Missense_Mutation_p.S957L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	957	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCTGTACTGCGAGCCGCTGTC	0.667													4	37					0	0	0	0	A	13698719	G	A	13698719	3	1	249	1	0	0	0	0	1	0	0	0	6099	1059	37	1	261	1	FRMD4A	10	13698719	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08		13698719	121836028	53	44662											
CUBN	8029	broad.mit.edu	37	chr10	17126460	17126460	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccaccacaacgcagatccGctaagaacagggaagagacg	15	3	10	13	3	0	3	0	0	0	3	2	5	2	4	3	1	2	2	3	1	4	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:17126460G>A	ENST00000377833.4	-	17	2176	c.2110_splice	c.e17-1	p.S704_splice		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	704					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACGCAGATCCGCTAAGAACAG	0.502													7	17					0	0	0	0	A	17126460	G	A	17126460	5	1	249	1	0	0	0	0	0	0	1	0	4083	1101	38	1	8964	1	CUBN	10	17126460	Splice_Site	SNP	G	TCGA-CV-6934-01A-11D-1912-08	3427741	17126460	118408287	54	44663											
TFAM	7019	broad.mit.edu	37	chr10	60148561	60148561	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaaacatttaaaaaggaaAgctatgacaaaaaaaaaagt	25	6	6	4	0	0	1	0	1	0	0	0	3	0	2	0	1	2	1	0	1	11	3			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:60148561A>T	ENST00000487519.1	+	4	949	c.423A>T	c.(421-423)aaA>aaT	p.K141N	TFAM_ENST00000373895.3_Missense_Mutation_p.K141N|TFAM_ENST00000373899.3_3'UTR	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	141					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TAAAAAGGAAAGCTATGACAA	0.264													19	69					0	0	0	0	T	60148561	A	T	60148561	3	4	249	1	0	0	0	0	1	0	0	0	15880	69	3	5	437	5	TFAM	10	60148561	Missense_Mutation	SNP	A	TCGA-CV-6934-01A-11D-1912-08	43022101	60148561	75386186	55	44664											
DUPD1	338599	broad.mit.edu	37	chr10	76803647	76803647	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggtcgtcggcctccacgCcgtggtactggatgtccatg	5	9	14	13	4	0	0	0	0	0	0	4	1	2	1	4	4	1	2	4	4	1	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:76803647C>G	ENST00000338487.5	-	2	328	c.329G>C	c.(328-330)gGc>gCc	p.G110A		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	110	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGCCTCCACGCCGTGGTACTG	0.637													21	69					0	0	0	0	G	76803647	C	G	76803647	3	3	249	1	0	0	0	0	1	0	0	0	4840	739	26	4	341	4	DUPD1	10	76803647	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08	16655086	76803647	58731100	56	44665											
RRP12	23223	broad.mit.edu	37	chr10	99132919	99132919	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgaagaggatcggcagaaAgttcttggcaaagcgactca	13	8	13	7	2	2	3	1	1	1	2	3	5	2	4	0	3	1	4	0	3	3	3			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:99132919A>C	ENST00000370992.4	-	18	2176	c.2065T>G	c.(2065-2067)Ttt>Gtt	p.F689V	RRP12_ENST00000536831.1_Missense_Mutation_p.F407V|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.F589V|RRP12_ENST00000414986.1_Missense_Mutation_p.F628V	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	689						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ATCGGCAGAAAGTTCTTGGCA	0.567													4	74					0	0	0	0	C	99132919	A	C	99132919	3	2	249	1	0	0	0	0	1	0	0	0	13771	72	3	5	1896	5	RRP12	10	99132919	Missense_Mutation	SNP	A	TCGA-CV-6934-01A-11D-1912-08	22329272	99132919	36401828	57	44666											
SORCS3	22986	broad.mit.edu	37	chr10	106960976	106960976	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaggatcagtggtctcAgaaccctgtgtctgtgccaa	9	10	10	12	0	4	1	3	0	2	1	5	2	4	2	2	2	2	0	2	2	2	0			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:106960976A>C	ENST00000369701.3	+	16	2453	c.2226A>C	c.(2224-2226)tcA>tcC	p.S742S	SORCS3_ENST00000369699.4_Silent_p.S28S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	742						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGTGGTCTCAGAACCCTGTG	0.522													15	85					0	0	0	0	C	106960976	A	C	106960976	2	2	249	1	0	0	0	0	0	0	0	1	15020	175	7	5		5	SORCS3	10	106960976	Silent	SNP	A	TCGA-CV-6934-01A-11D-1912-08	7828057	106960976	28573771	58	44667											
SWAP70	23075	broad.mit.edu	37	chr11	9759763	9759763	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtttttgattggctagaaaCtggaggaagcagcatctcgt	10	12	13	6	1	1	2	0	1	1	1	2	4	1	4	0	4	3	4	0	4	3	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:9759763C>T	ENST00000318950.6	+	8	1187	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	SWAP70_ENST00000447399.2_Silent_p.L304L	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	362						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		TGGCTAGAAACTGGAGGAAGC	0.448													11	29					0	0	0	0	T	9759763	C	T	9759763	2	4	249	1	0	0	0	0	0	0	0	1	15515	564	20	4		4	SWAP70	11	9759763	Silent	SNP	C	TCGA-CV-6934-01A-11D-1912-08		9759763	125246753	59	44668											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466839	57466839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagccaaaaagcccaacCtggtgtctctgagacagaag	14	5	10	12	0	1	2	0	1	1	2	2	3	1	2	3	1	4	1	3	1	4	0			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:57466839C>T	ENST00000287169.3	+	11	3293	c.1931C>T	c.(1930-1932)cCt>cTt	p.P644L	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.P591L	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	644						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AAAGCCCAACCTGGTGTCTCT	0.527													22	66					0	0	0	0	T	57466839	C	T	57466839	3	4	249	1	0	0	0	0	1	0	0	0	17713	681	24	4	1969	4	ZDHHC5	11	57466839	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08	47707076	57466839	77539677	60	44669											
NUDT22	84304	broad.mit.edu	37	chr11	63994371	63994371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacagctgctcctgcgcctgGgccttacttcctaccgagac	6	9	9	17	2	0	1	0	0	0	1	2	2	2	1	5	1	5	2	5	1	2	3	rs143695088	by1000genomes	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:63994371G>T	ENST00000279206.3	+	2	403	c.247G>T	c.(247-249)Ggc>Tgc	p.G83C	NUDT22_ENST00000441250.2_Missense_Mutation_p.G83C	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	83							hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CCTGCGCCTGGGCCTTACTTC	0.662													20	75					1.64113e-05	1.92362e-05	1	0	T	63994371	G	T	63994371	3	4	249	1	0	0	0	0	1	0	0	0	10810	1232	43	4	249	4	NUDT22	11	63994371	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	6527532	63994371	71012145	61	44670											
ACTN3	89	broad.mit.edu	37	chr11	66330375	66330375	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgagagacagccgagactGacacgactgagcaagttgta	13	5	12	11	3	0	4	0	2	0	2	0	8	0	4	2	0	2	3	2	0	2	2			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:66330375G>C	ENST00000502692.1	+	0	2742				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						AGCCGAGACTGACACGACTGA	0.597													5	161					0	0	0	0	C	66330375	G	C	66330375	1	2	249	0	1	0	0	0	0	0	0	0	206	1290	45	2		2	ACTN3	11	66330375	RNA	SNP	G	TCGA-CV-6934-01A-11D-1912-08	2336004	66330375	68676141	62	44671											
LRFN4	78999	broad.mit.edu	37	chr11	66626406	66626406	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccgctcgcactgctgcCgagggtgaggggacgctgga	5	6	17	13	4	0	1	0	1	0	0	2	4	1	3	3	4	2	4	3	4	0	0			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:66626406C>T	ENST00000309602.4	+	1	1434	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	397						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCACTGCTGCCGAGGGTGAGG	0.731													5	57					0	0	0	0	T	66626406	C	T	66626406	2	4	249	1	0	0	0	0	0	0	0	1	9004	639	23	1		1	LRFN4	11	66626406	Silent	SNP	C	TCGA-CV-6934-01A-11D-1912-08	296031	66626406	68380110	63	44672											
XRRA1	143570	broad.mit.edu	37	chr11	74562186	74562186	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttaggctttactatctTccttcgaattaagtggattc	9	17	7	8	1	1	0	0	0	1	0	4	2	2	1	1	2	2	2	1	2	5	8			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:74562186T>G	ENST00000340360.6	-	14	1634	c.1303A>C	c.(1303-1305)Aag>Cag	p.K435Q	XRRA1_ENST00000321448.8_Missense_Mutation_p.K160Q|XRRA1_ENST00000527087.1_Missense_Mutation_p.K348Q	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	435					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TTTACTATCTTCCTTCGAATT	0.498													10	35					0	0	0	0	G	74562186	T	G	74562186	3	3	249	1	0	0	0	0	1	0	0	0	17557	1792	62	5	1099	5	XRRA1	11	74562186	Missense_Mutation	SNP	T	TCGA-CV-6934-01A-11D-1912-08	7935780	74562186	60444330	64	44673											
PICALM	8301	broad.mit.edu	37	chr11	85712203	85712203	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggaaagtgtagttgcccTaggataattgaacagagata	15	11	11	4	0	0	2	0	1	0	1	0	5	0	4	1	2	2	2	1	2	6	7			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:85712203T>A	ENST00000526033.1	-	10	1210		c.e10-2		PICALM_ENST00000356360.5_Splice_Site|PICALM_ENST00000528398.1_Splice_Site|PICALM_ENST00000393346.3_Splice_Site|PICALM_ENST00000532317.1_Splice_Site	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein						clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GTAGTTGCCCTAGGATAATTG	0.443			T	"MLLT10, MLL"	"TALL, AML, "								21	75					0	0	0	0	A	85712203	T	A	85712203	5	1	249	1	0	0	0	0	0	0	1	0	11952	1536	53	5	1138	5	PICALM	11	85712203	Splice_Site	SNP	T	TCGA-CV-6934-01A-11D-1912-08	11150017	85712203	49294313	65	44674											
PRSS23	11098	broad.mit.edu	37	chr11	86518800	86518800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgcataccgcctccctGtcgtcttgccccagtctacc	4	10	8	19	2	2	0	0	0	2	0	4	0	3	0	7	1	4	1	7	1	2	3			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:86518800G>A	ENST00000280258.5	+	2	540	c.115G>A	c.(115-117)Gtc>Atc	p.V39I	PRSS23_ENST00000441050.1_Missense_Mutation_p.V39I|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	39					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCGCCTCCCTGTCGTCTTGCC	0.537													22	87					0	0	0	0	A	86518800	G	A	86518800	3	1	249	1	0	0	0	0	1	0	0	0	12699	1377	48	4	117	4	PRSS23	11	86518800	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	806597	86518800	48487716	66	44675											
MMP3	4314	broad.mit.edu	37	chr11	102709884	102709884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctagtaacttcatatgcGgcatccacgcctgaaggaag	11	10	10	10	2	1	1	1	1	0	0	2	2	2	2	2	2	3	3	2	2	5	5			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:102709884G>A	ENST00000299855.5	-	7	1282	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	342	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A342A(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CTTCATATGCGGCATCCACGC	0.378													21	59					0	0	0	0	A	102709884	G	A	102709884	2	1	249	1	0	0	0	0	0	0	0	1	9736	1103	39	1		1	MMP3	11	102709884	Silent	SNP	G	TCGA-CV-6934-01A-11D-1912-08	16191084	102709884	32296632	67	44676											
DYNC2H1	79659	broad.mit.edu	37	chr11	103022985	103022985	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataaatttgagttaatgatgGaaagtcaccaacttatgatt	16	14	7	4	0	1	3	1	3	0	0	1	4	1	4	1	1	1	1	1	1	6	5			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:103022985G>T	ENST00000375735.2	+	21	3211	c.3067G>T	c.(3067-3069)Gaa>Taa	p.E1023*	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E1023*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1023	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTAATGATGGAAAGTCACCA	0.303													6	45					0.00198382	0.0022163	1	0	T	103022985	G	T	103022985	4	4	249	1	0	0	0	0	0	1	0	0	4882	1175	41	2	3149	2	DYNC2H1	11	103022985	Nonsense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	313101	103022985	31983531	68	44677											
NPAT	4863	broad.mit.edu	37	chr11	108044157	108044157	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaagttttcattgttagcTtcacaaccaagtgaaacaaa	16	13	5	7	0	2	1	2	1	0	0	2	1	2	1	1	0	3	3	1	0	6	6			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:108044157T>A	ENST00000278612.8	-	13	1659	c.1554A>T	c.(1552-1554)gaA>gaT	p.E518D		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	518					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CATTGTTAGCTTCACAACCAA	0.348													19	51					0	0	0	0	A	108044157	T	A	108044157	3	1	249	1	0	0	0	0	1	0	0	0	10636	1606	56	5	2753	5	NPAT	11	108044157	Missense_Mutation	SNP	T	TCGA-CV-6934-01A-11D-1912-08	5021172	108044157	26962359	69	44678											
VWA5A	4013	broad.mit.edu	37	chr11	123993667	123993667	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctttatcctttctgaacagGtcatttgatgggagatccat	9	15	9	8	0	2	3	1	2	1	1	4	4	4	3	2	2	1	1	2	2	2	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:123993667G>A	ENST00000456829.2	+	8	1012	c.760_splice	c.e8-1	p.G254_splice	VWA5A_ENST00000361352.5_Splice_Site_p.G254_splice|VWA5A_ENST00000392748.1_Splice_Site_p.G254_splice|VWA5A_ENST00000392744.4_Splice_Site_p.G270_splice|VWA5A_ENST00000360334.4_Splice_Site_p.G254_splice|VWA5A_ENST00000449321.1_Splice_Site_p.G254_splice	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	254										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TTCTGAACAGGTCATTTGATG	0.383													4	38					0	0	0	0	A	123993667	G	A	123993667	5	1	249	1	0	0	0	0	0	0	1	0	17338	1275	44	4	783	4	VWA5A	11	123993667	Splice_Site	SNP	G	TCGA-CV-6934-01A-11D-1912-08	15949510	123993667	11012849	70	44679											
TMTC1	83857	broad.mit.edu	37	chr12	29659813	29659813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctcgaacttcttgtaatCgtttttctaggcgatccaat	8	18	6	9	3	3	0	0	0	3	0	6	2	4	0	1	1	1	2	1	1	4	7			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr12:29659813C>T	ENST00000256062.5	-	18	2764	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q	TMTC1_ENST00000539277.1_Missense_Mutation_p.R872Q|TMTC1_ENST00000551659.1_Missense_Mutation_p.R934Q|TMTC1_ENST00000552618.1_Missense_Mutation_p.R896Q|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	872						integral to membrane	binding	p.R764Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTCTTGTAATCGTTTTTCTAG	0.448													15	143					0	0	0	0	T	29659813	C	T	29659813	3	4	249	1	0	0	0	0	1	0	0	0	16354	884	31	1	37	1	TMTC1	12	29659813	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08		29659813	104192082	71	44680											
TRHDE	29953	broad.mit.edu	37	chr12	72863583	72863583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatgctgctatggagaactGgggactaagtatttttgtgg	9	14	14	4	0	0	1	0	0	0	1	0	3	0	2	0	4	3	4	0	4	5	6			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr12:72863583G>T	ENST00000261180.4	+	4	1322	c.1226G>T	c.(1225-1227)tGg>tTg	p.W409L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	409					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATGGAGAACTGGGGACTAAGT	0.378													15	67					4.7546e-09	5.81118e-09	1	0	T	72863583	G	T	72863583	3	4	249	1	0	0	0	0	1	0	0	0	16574	1357	47	4	1240	4	TRHDE	12	72863583	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	43203770	72863583	60988312	72	44681											
DNAH10	196385	broad.mit.edu	37	chr12	124268652	124268652	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctgcagccagtgttcacCgagttattcaagttccacac	11	11	7	12	1	3	0	2	0	1	0	4	1	4	0	3	0	2	4	3	0	3	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr12:124268652C>T	ENST00000409039.3	+	8	1000	c.975C>T	c.(973-975)acC>acT	p.T325T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	325	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T325T(1)|p.T143T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTGTTCACCGAGTTATTCA	0.488													17	62					0	0	0	0	T	124268652	C	T	124268652	2	4	249	1	0	0	0	0	0	0	0	1	4635	639	23	1		1	DNAH10	12	124268652	Silent	SNP	C	TCGA-CV-6934-01A-11D-1912-08	51405069	124268652	9583243	73	44682											
EP400	57634	broad.mit.edu	37	chr12	132534871	132534871	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcaatttcattgcagagtAaaaacaaccgtcctctccgt	12	11	6	12	3	3	1	2	0	1	1	5	1	4	1	3	0	3	2	3	0	5	3			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr12:132534871A>G	ENST00000333577.4	+	41	7421	c.7312A>G	c.(7312-7314)Aaa>Gaa	p.K2438E	EP400_ENST00000330386.6_Missense_Mutation_p.K2321E|EP400_ENST00000389561.2_Missense_Mutation_p.K2402E|EP400_ENST00000389562.2_Missense_Mutation_p.K2401E|EP400_ENST00000332482.4_Missense_Mutation_p.K2365E			Q96L91	EP400_HUMAN	E1A binding protein p400	2438					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ATTGCAGAGTAAAAACAACCG	0.507													16	71					0	0	0	0	G	132534871	A	G	132534871	3	3	249	1	0	0	0	0	1	0	0	0	5187	363	13	5	7355	5	EP400	12	132534871	Missense_Mutation	SNP	A	TCGA-CV-6934-01A-11D-1912-08	8266219	132534871	1317024	74	44683											
TGDS	23483	broad.mit.edu	37	chr13	95230316	95230316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttcaaaattggttccgatGttataaatttcacctggttt	11	18	6	6	1	2	0	2	0	0	0	3	1	3	0	2	2	0	3	2	2	5	7			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr13:95230316G>T	ENST00000261296.5	-	9	888	c.768C>A	c.(766-768)aaC>aaA	p.N256K		NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	256					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TGGTTCCGATGTTATAAATTT	0.358													7	34					0.00198382	0.0022163	1	0	T	95230316	G	T	95230316	3	4	249	1	0	0	0	0	1	0	0	0	15908	1368	48	4	300	4	TGDS	13	95230316	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08		95230316	19939562	75	44684											
AHNAK2	113146	broad.mit.edu	37	chr14	105409742	105409742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggggctgaacgctgaGgtcagtggccttgaggtccc	7	7	18	9	1	1	3	1	3	0	0	2	4	2	4	2	6	1	2	2	6	2	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr14:105409742G>T	ENST00000333244.5	-	7	12165	c.12046C>A	c.(12046-12048)Ctc>Atc	p.L4016I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4016						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGAACGCTGAGGTCAGTGGCC	0.657													113	238					3.68091e-61	4.69973e-61	1	0	T	105409742	G	T	105409742	3	4	249	1	0	0	0	0	1	0	0	0	415	1000	35	4	5345	4	AHNAK2	14	105409742	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08		105409742	1939798	76	44685											
OR4M2	390538	broad.mit.edu	37	chr15	22369305	22369305	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccatgtccacctgctatTcccacattaccattgtggtg	7	12	9	13	0	0	0	0	0	0	0	2	0	2	0	5	2	2	1	5	2	2	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr15:22369305T>G	ENST00000332663.2	+	1	828	c.730T>G	c.(730-732)Tcc>Gcc	p.S244A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CACCTGCTATTCCCACATTAC	0.448													19	136					0	0	0	0	G	22369305	T	G	22369305	3	3	249	1	0	0	0	0	1	0	0	0	11147	1783	62	5	732	5	OR4M2	15	22369305	Missense_Mutation	SNP	T	TCGA-CV-6934-01A-11D-1912-08		22369305	80162087	77	44686											
ZWILCH	55055	broad.mit.edu	37	chr15	66828269	66828269	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttatattttttcattccAggaatacttcattgctccat	9	19	4	9	0	2	0	2	0	0	0	4	1	4	1	2	1	3	2	2	1	4	9			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr15:66828269A>T	ENST00000307897.5	+	15	1721		c.e15-1		ZWILCH_ENST00000535141.2_Splice_Site|ZWILCH_ENST00000565627.1_Splice_Site|ZWILCH_ENST00000446801.2_Splice_Site	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein						cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TTTTCATTCCAGGAATACTTC	0.343													4	50					0	0	0	0	T	66828269	A	T	66828269	5	4	249	1	0	0	0	0	0	0	1	0	18339	202	7	5	1398	5	ZWILCH	15	66828269	Splice_Site	SNP	A	TCGA-CV-6934-01A-11D-1912-08	44458964	66828269	35703123	78	44687											
MAP2K5	5607	broad.mit.edu	37	chr15	67995696	67995696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaaggatttcaggggagCagtatggaattcattctgat	12	12	12	5	0	3	2	2	2	1	0	3	5	3	5	0	4	1	2	0	4	3	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr15:67995696C>A	ENST00000178640.5	+	16	1621	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	MAP2K5_ENST00000395476.2_Missense_Mutation_p.Q332K|MAP2K5_ENST00000354498.5_Missense_Mutation_p.Q296K|MAP2K5_ENST00000340972.4_Missense_Mutation_p.Q142K	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	332	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TTCAGGGGAGCAGTATGGAAT	0.423													22	91					1.10923e-09	1.36741e-09	1	0	A	67995696	C	A	67995696	3	1	249	1	0	0	0	0	1	0	0	0	9309	711	25	4	1056	4	MAP2K5	15	67995696	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08	1167427	67995696	34535696	79	44688											
CACNA1H	8912	broad.mit.edu	37	chr16	1260937	1260937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcctgggtgttctgcgcGtgctgcgtctgctgcggacc	3	11	15	12	4	2	1	0	0	2	1	3	2	3	2	2	2	5	3	2	2	0	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr16:1260937G>A	ENST00000348261.5	+	21	4437	c.4189G>A	c.(4189-4191)Gtg>Atg	p.V1397M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1397M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1397M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1397					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTTCTGCGCGTGCTGCGTCT	0.682													39	141					0	0	0	0	A	1260937	G	A	1260937	3	1	249	1	0	0	0	0	1	0	0	0	2570	1145	40	1	4267	1	CACNA1H	16	1260937	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08		1260937	89093816	80	44689											
SEZ6L2	26470	broad.mit.edu	37	chr16	29884953	29884953	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgaggctgtaccctggCaggcagcggtactggacgtg	6	7	15	13	3	0	0	0	0	0	0	1	2	0	1	2	5	3	5	2	5	2	2			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr16:29884953C>A	ENST00000308713.5	-	13	2729	c.2202G>T	c.(2200-2202)ctG>ctT	p.L734L	SEZ6L2_ENST00000350527.3_Silent_p.L664L|SEZ6L2_ENST00000346932.5_Silent_p.L620L|SEZ6L2_ENST00000537485.1_Silent_p.L690L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	734	Sushi 4.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTACCCTGGCAGGCAGCGGT	0.657													6	45					0.00116845	0.00132609	1	0	A	29884953	C	A	29884953	2	1	249	1	0	0	0	0	0	0	0	1	14231	697	25	4		4	SEZ6L2	16	29884953	Silent	SNP	C	TCGA-CV-6934-01A-11D-1912-08	28624016	29884953	60469800	81	44690											
TP53	7157	broad.mit.edu	37	chr17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgtttctgtcatccaaaTactccacacgcaaatttcct	12	13	4	12	1	2	0	1	0	1	0	5	0	5	0	3	0	1	2	3	0	4	3			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:7578235T>C	ENST00000420246.2	-	6	746	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCATCCAAATACTCCACACG	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	26					0	0	0	0	C	7578235	T	C	7578235	3	2	249	1	0	0	0	0	1	0	0	0	16476	1406	49	5	680	5	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-CV-6934-01A-11D-1912-08		7578235	73616975	82	44691											
GAS7	8522	broad.mit.edu	37	chr17	9923233	9923233	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgttggagaagaaagaaAaggtcacacccatttggcat	14	10	10	7	0	2	3	1	0	1	3	2	4	2	3	1	3	0	2	1	3	4	3			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:9923233A>T	ENST00000579158.1	-	1	86	c.21T>A	c.(19-21)ctT>ctA	p.L7L	GAS7_ENST00000323816.4_Intron|GAS7_ENST00000585266.1_Intron|GAS7_ENST00000578655.1_Intron|GAS7_ENST00000542249.1_Intron|GAS7_ENST00000396115.1_Intron|GAS7_ENST00000432992.2_Intron|GAS7_ENST00000437099.2_Intron|GAS7_ENST00000540214.1_Intron			O60861	GAS7_HUMAN	growth arrest-specific 7	0	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GAAGAAAGAAAAGGTCACACC	0.527			T	MLL	AML*								11	50					0	0	0	0	T	9923233	A	T	9923233	2	4	249	1	0	0	0	0	0	0	0	1	6299	29	1	5		5	GAS7	17	9923233	Silent	SNP	A	TCGA-CV-6934-01A-11D-1912-08	2344998	9923233	71271977	83	44692											
CNTNAP1	8506	broad.mit.edu	37	chr17	40842782	40842782	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgagcgtggacagttgtgcgGcatgacaggctgtggacaac	9	7	16	9	3	0	1	0	1	0	0	0	4	0	3	0	4	3	3	0	4	1	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:40842782G>A	ENST00000264638.4	+	13	2098	c.1881G>A	c.(1879-1881)cgG>cgA	p.R627R	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	627	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CAGTTGTGCGGCATGACAGGC	0.587													4	148					0	0	0	0	A	40842782	G	A	40842782	2	1	249	1	0	0	0	0	0	0	0	1	3676	1190	42	4		4	CNTNAP1	17	40842782	Silent	SNP	G	TCGA-CV-6934-01A-11D-1912-08	30919549	40842782	40352428	84	44693											
MBTD1	54799	broad.mit.edu	37	chr17	49270365	49270365	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattcctacacgaaatccgtGatttggaacatcctgacaca	13	10	6	12	2	0	2	0	2	0	0	3	4	3	3	3	1	2	0	3	1	3	3			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:49270365G>C	ENST00000586178.1	-	15	1811	c.1468C>G	c.(1468-1470)Cac>Gac	p.H490D	MBTD1_ENST00000415868.1_Missense_Mutation_p.H490D|MBTD1_ENST00000376381.2_3'UTR	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	490					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CGAAATCCGTGATTTGGAACA	0.378													20	99					0	0	0	0	C	49270365	G	C	49270365	3	2	249	1	0	0	0	0	1	0	0	0	9429	1290	45	2	430	2	MBTD1	17	49270365	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	8427583	49270365	31924845	85	44694											
ANKFN1	162282	broad.mit.edu	37	chr17	54428211	54428211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgctccctcatctcccaaCgcagccaaacgcctgtacag	10	7	7	17	2	2	0	1	0	1	0	4	0	3	0	4	0	5	3	4	0	3	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:54428211C>T	ENST00000566473.2	+	4	282	c.282C>T	c.(280-282)aaC>aaT	p.N94N	ANKFN1_ENST00000318698.2_Silent_p.N94N			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	94										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CATCTCCCAACGCAGCCAAAC	0.448													9	45					0	0	0	0	T	54428211	C	T	54428211	2	4	249	1	0	0	0	0	0	0	0	1	625	535	19	1		1	ANKFN1	17	54428211	Silent	SNP	C	TCGA-CV-6934-01A-11D-1912-08	5157846	54428211	26766999	86	44695											
ABCA5	23461	broad.mit.edu	37	chr17	67270205	67270205	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgggaaccacagcattttTaaaagagtgatgaaccaaaa	18	8	9	6	0	0	3	0	2	0	1	0	5	0	4	2	1	3	1	2	1	6	3			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:67270205T>C	ENST00000392676.3	-	20	2723	c.2659A>G	c.(2659-2661)Aaa>Gaa	p.K887E	ABCA5_ENST00000588877.1_Missense_Mutation_p.K887E|ABCA5_ENST00000392677.2_Missense_Mutation_p.K887E			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	887					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ACAGCATTTTTAAAAGAGTGA	0.323													13	48					0	0	0	0	C	67270205	T	C	67270205	3	2	249	1	0	0	0	0	1	0	0	0	35	1763	61	5	2349	5	ABCA5	17	67270205	Missense_Mutation	SNP	T	TCGA-CV-6934-01A-11D-1912-08	12841994	67270205	13925005	87	44696											
KCTD2	23510	broad.mit.edu	37	chr17	73059132	73059132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattcttcaggagagaggatCgcggatgtaaactaagaccc	13	8	12	8	2	2	2	1	0	1	2	3	7	2	5	1	3	1	1	1	3	3	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:73059132C>T	ENST00000322444.6	+	6	788	c.782C>T	c.(781-783)tCg>tTg	p.S261L	KCTD2_ENST00000581589.1_Missense_Mutation_p.S62L	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	261						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					GAGAGAGGATCGCGGATGTAA	0.552													4	21					0	0	0	0	T	73059132	C	T	73059132	3	4	249	1	0	0	0	0	1	0	0	0	8160	893	31	1	804	1	KCTD2	17	73059132	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08	5788927	73059132	8136078	88	44697											
CASKIN2	57513	broad.mit.edu	37	chr17	73500710	73500710	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttagtgccctcagagctctgCccgctgccggcactgcggat	5	9	12	15	3	2	1	1	0	1	1	2	2	2	2	3	2	5	3	3	2	1	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:73500710C>T	ENST00000321617.3	-	12	1843	c.1257G>A	c.(1255-1257)ggG>ggA	p.G419G	CASKIN2_ENST00000433559.2_Silent_p.G337G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	419						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGAGCTCTGCCCGCTGCCGG	0.642													3	22					0	0	0	0	T	73500710	C	T	73500710	2	4	249	1	0	0	0	0	0	0	0	1	2692	726	26	4		4	CASKIN2	17	73500710	Silent	SNP	C	TCGA-CV-6934-01A-11D-1912-08	441578	73500710	7694500	89	44698											
MC2R	4158	broad.mit.edu	37	chr18	13885391	13885391	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagccagcaggacgatcaGattctccaaaactccaacaa	16	5	6	14	1	2	1	1	0	1	1	4	3	3	2	3	1	4	1	3	1	4	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr18:13885391G>A	ENST00000327606.3	-	2	307	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	43					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGGACGATCAGATTCTCCAAA	0.428													11	30					0	0	0	0	A	13885391	G	A	13885391	2	1	249	1	0	0	0	0	0	0	0	1	9433	933	33	2		2	MC2R	18	13885391	Silent	SNP	G	TCGA-CV-6934-01A-11D-1912-08		13885391	64191857	90	44699											
OR4F17	81099	broad.mit.edu	37	chr19	110747	110748	+	Frame_Shift_Ins	INS	-	-	T																															agaccttcctatttatgttgINSttttttgtattctatggagg																										TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr19:110747_110748insT	ENST00000585993.1	+	2	208_209	c.69_70insT	c.(67-72)ttttttfs	p.FF23fs	OR4F17_ENST00000318050.3_Frame_Shift_Ins_p.FF23fs			Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F, member 17	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TATTTATGTTGTTTTTTGTATT	0.411													49	878	---	---	---	---					T	110748	-	T	110747	7	5	249	1	0	1	1	0	0	0	0	0	11133	1368	48	0	71	0	OR4F17	19	110747	Frame_Shift_Ins	INS	-	TCGA-CV-6934-01A-11D-1912-08		110747	59018236	91	44700											
YIPF2	78992	broad.mit.edu	37	chr19	11038315	11038315	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcctgacctgtgaggtGtccacgtcaaagaagctctg	9	8	11	13	1	2	3	1	2	1	1	3	3	3	3	4	1	2	1	4	1	2	0			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:11038315G>A	ENST00000586748.1	-	4	442	c.270C>T	c.(268-270)gaC>gaT	p.D90D	YIPF2_ENST00000590329.1_Silent_p.D90D|YIPF2_ENST00000253031.2_Silent_p.D90D			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	90						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCTGTGAGGTGTCCACGTCAA	0.602													7	40					0	0	0	0	A	11038315	G	A	11038315	2	1	249	1	0	0	0	0	0	0	0	1	17574	1368	48	4		4	YIPF2	19	11038315	Silent	SNP	G	TCGA-CV-6934-01A-11D-1912-08	10927568	11038315	48090668	92	44701											
ZNF284	342909	broad.mit.edu	37	chr19	44590486	44590486	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatccatactggggagaaGccattcaaatgttatatatg	15	11	9	6	0	1	2	1	0	0	2	2	3	2	2	2	2	2	1	2	2	7	5			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:44590486G>A	ENST00000421176.3	+	5	1071	c.855G>A	c.(853-855)aaG>aaA	p.K285K	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				CTGGGGAGAAGCCATTCAAAT	0.393													23	72					0	0	0	0	A	44590486	G	A	44590486	2	1	249	1	0	0	0	0	0	0	0	1	17916	962	34	4		4	ZNF284	19	44590486	Silent	SNP	G	TCGA-CV-6934-01A-11D-1912-08	33552171	44590486	14538497	93	44702											
CEACAM18	729767	broad.mit.edu	37	chr19	51986513	51986513	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccccgtgacacagctgAtcatgtacatggacgtcagg	12	7	11	11	2	2	3	2	2	0	1	2	4	2	4	2	2	3	2	2	2	2	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:51986513A>T	ENST00000396477.4	+	4	937	c.916A>T	c.(916-918)Atc>Ttc	p.I306F	CEACAM18_ENST00000451626.1_Missense_Mutation_p.I367F	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	367	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GACACAGCTGATCATGTACAT	0.582													22	57					0	0	0	0	T	51986513	A	T	51986513	3	4	249	1	0	0	0	0	1	0	0	0	3218	333	12	5	1117	5	CEACAM18	19	51986513	Missense_Mutation	SNP	A	TCGA-CV-6934-01A-11D-1912-08	7396027	51986513	7142470	94	44703											
LENG8	114823	broad.mit.edu	37	chr19	54965698	54965698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccctcagccctcaaatccCccacatggggctcacacgct	8	6	6	21	1	3	0	3	0	0	0	4	0	4	0	5	2	1	2	5	2	1	0			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:54965698C>T	ENST00000326764.5	+	6	995	c.516C>T	c.(514-516)ccC>ccT	p.P172P	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	135							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCTCAAATCCCCCACATGGGG	0.687													4	24					0	0	0	0	T	54965698	C	T	54965698	2	4	249	1	0	0	0	0	0	0	0	1	8777	610	22	4		4	LENG8	19	54965698	Silent	SNP	C	TCGA-CV-6934-01A-11D-1912-08	2979185	54965698	4163285	95	44704											
ZNF628	89887	broad.mit.edu	37	chr19	55995170	55995170	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggtccagctccagcccgtGgccggccagctctccaattc	6	7	10	18	3	1	0	0	0	1	0	5	0	3	0	6	3	3	2	6	3	1	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:55995170G>A	ENST00000598519.1	+	3	3163	c.2610G>A	c.(2608-2610)gtG>gtA	p.V870V	ZNF628_ENST00000391718.2_Silent_p.V866V	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	866						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TCCAGCCCGTGGCCGGCCAGC	0.647													6	42					0	0	0	0	A	55995170	G	A	55995170	2	1	249	1	0	0	0	0	0	0	0	1	18147	1335	47	4		4	ZNF628	19	55995170	Silent	SNP	G	TCGA-CV-6934-01A-11D-1912-08	1029472	55995170	3133813	96	44705											
ZNF154	7710	broad.mit.edu	37	chr19	58213526	58213526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccccagtgtgaactcccCgatgttgaaggagtgcagac	9	9	11	12	1	1	3	0	2	1	1	3	5	2	4	4	1	2	2	4	1	2	1			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:58213526C>T	ENST00000512439.2	-	3	987	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.R264Q			Q13106	ZN154_HUMAN	zinc finger protein 154	264						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGAACTCCCCGATGTTGAAG	0.453													23	90					0	0	0	0	T	58213526	C	T	58213526	3	4	249	1	0	0	0	0	1	0	0	0	17830	652	23	1	526	1	ZNF154	19	58213526	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08	2218356	58213526	915457	97	44706											
SIRPB1	10326	broad.mit.edu	37	chr20	1600540	1600540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctccccagcagtagcgtCatcagcaggaaaggactagg	12	6	12	11	1	3	0	2	0	1	0	4	2	3	2	2	3	3	3	2	3	3	2			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr20:1600540C>A	ENST00000381605.4	-	1	115	c.51G>T	c.(49-51)atG>atT	p.M17I	SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Missense_Mutation_p.M17I|SIRPB1_ENST00000279477.7_Missense_Mutation_p.M17I|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.M17I|SIRPB1_ENST00000381603.3_Missense_Mutation_p.M17I	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	17					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGTAGCGTCATCAGCAGGA	0.562													7	62					1.12685e-05	1.33173e-05	1	0	A	1600540	C	A	1600540	3	1	249	1	0	0	0	0	1	0	0	0	14421	826	29	2	2302	2	SIRPB1	20	1600540	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08		1600540	61424980	98	44707											
SEL1L2	80343	broad.mit.edu	37	chr20	13856702	13856702	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accttactggctgccatggaAaagtacttgaaggcagtagc	12	9	11	9	0	0	1	0	1	0	0	0	2	0	2	2	3	4	4	2	3	6	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr20:13856702A>T	ENST00000284951.5	-	12	1160	c.1086T>A	c.(1084-1086)ttT>ttA	p.F362L	SEL1L2_ENST00000378072.5_Missense_Mutation_p.F362L|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	362						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTGCCATGGAAAAGTACTTGA	0.393													42	110					0	0	0	0	T	13856702	A	T	13856702	3	4	249	1	0	0	0	0	1	0	0	0	14098	11	1	5	1016	5	SEL1L2	20	13856702	Missense_Mutation	SNP	A	TCGA-CV-6934-01A-11D-1912-08	12256162	13856702	49168818	99	44708											
ZDHHC8	29801	broad.mit.edu	37	chr22	20127696	20127696	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtcattggcctcactggcTtccatgtggtgctggtcact	4	14	11	12	0	3	0	3	0	0	0	4	0	4	0	2	4	1	2	2	4	0	2			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr22:20127696T>A	ENST00000334554.7	+	5	757	c.616T>A	c.(616-618)Ttc>Atc	p.F206I	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.F206I|ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000320602.7_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	206						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCTCACTGGCTTCCATGTGGT	0.637													6	32					0	0	0	0	A	20127696	T	A	20127696	3	1	249	1	0	0	0	0	1	0	0	0	17716	1609	56	5	634	5	ZDHHC8	22	20127696	Missense_Mutation	SNP	T	TCGA-CV-6934-01A-11D-1912-08		20127696	31176870	100	44709											
MORC2	22880	broad.mit.edu	37	chr22	31333632	31333632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacgcagctcactggatGggggctggttccagttggca	7	10	15	9	1	1	0	1	0	0	0	2	1	2	1	1	5	2	7	1	5	1	3			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr22:31333632G>A	ENST00000215862.4	-	16	2613	c.1250C>T	c.(1249-1251)cCa>cTa	p.P417L	MORC2_ENST00000469915.1_Intron|MORC2_ENST00000397641.2_Missense_Mutation_p.P479L	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	479							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTCACTGGATGGGGGCTGGTT	0.547													10	58					0	0	0	0	A	31333632	G	A	31333632	3	1	249	1	0	0	0	0	1	0	0	0	9772	1348	47	4	1710	4	MORC2	22	31333632	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08	11205936	31333632	19970934	101	44710											
NUP50	10762	broad.mit.edu	37	chr22	45574201	45574201	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacagtcagcagccctcCtcctctggccttgcttccag	5	9	11	16	0	2	0	1	0	1	0	5	1	5	1	5	3	3	2	5	3	0	2			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr22:45574201C>T	ENST00000347635.3	+	5	889	c.423C>T	c.(421-423)tcC>tcT	p.S141S	NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Silent_p.S113S|NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Silent_p.S113S	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	141	5 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AGCAGCCCTCCTCCTCTGGCC	0.483													10	40					0	0	0	0	T	45574201	C	T	45574201	2	4	249	1	0	0	0	0	0	0	0	1	10837	668	24	4		4	NUP50	22	45574201	Silent	SNP	C	TCGA-CV-6934-01A-11D-1912-08	14240569	45574201	5730365	102	44711											
TUBGCP6	85378	broad.mit.edu	37	chr22	50656424	50656444	+	In_Frame_Del	DEL	CCCCGCGGGCCCCCAGGGGGC	CCCCGCGGGCCCCCAGGGGGC	-																															caaagttggggtgctctgcaCcccgcgggcccccagggggc																								rs35381394	by1000genomes	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr22:50656424_50656444delCCCCGCGGGCCCCCAGGGGGC	ENST00000248846.5	-	24	5375_5395	c.5271_5291delGCCCCCTGGGGGCCCGCGGGG	c.(5269-5292)ggt>gg	p.GPPGGPRG1757del	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1757					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGCTCTGCACCCCGCGGGCCCCCAGGGGGCCCCCAGGCCT	0.624													8	71	---	---	---	---					-	50656444	CCCCGCGGGCCCCCAGGGGGC	-	50656424	7	5	249	1	0	1	0	1	0	0	0	0	16866	507	18	0	176	0	TUBGCP6	22	50656424	In_Frame_Del	DEL	CCCCGCGGGCCCCCAGGGGGC	TCGA-CV-6934-01A-11D-1912-08	5082223	50656424	648142	103	44712											
MAOB	4129	broad.mit.edu	37	chrX	43698134	43698134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttacatggtggatcagacGctcaacctcattcactttgt	9	14	7	11	1	4	1	4	0	0	1	4	2	4	2	1	2	2	1	1	2	2	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chrX:43698134G>A	ENST00000378069.4	-	3	406	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	MAOB_ENST00000538942.1_Missense_Mutation_p.R71C|MAOB_ENST00000536181.1_Missense_Mutation_p.R71C|MAOB_ENST00000487544.1_5'UTR	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	87					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TGGATCAGACGCTCAACCTCA	0.433													18	82					0	0	0	0	A	43698134	G	A	43698134	3	1	249	1	0	0	0	0	1	0	0	0	9295	1087	38	1	1355	1	MAOB	23	43698134	Missense_Mutation	SNP	G	TCGA-CV-6934-01A-11D-1912-08		43698134	111572426	104	44713											
CCNB3	85417	broad.mit.edu	37	chrX	50052074	50052074	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatgccactttaggaagcCaccagtattgcagacaacca	14	8	8	11	0	0	1	0	0	0	1	0	3	0	2	4	1	4	2	4	1	5	5			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chrX:50052074C>G	ENST00000376042.1	+	6	1203	c.905C>G	c.(904-906)cCa>cGa	p.P302R	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.P302R|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	302					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTTAGGAAGCCACCAGTATTG	0.418													7	73					0	0	0	0	G	50052074	C	G	50052074	3	3	249	1	0	0	0	0	1	0	0	0	2943	594	21	4	919	4	CCNB3	23	50052074	Missense_Mutation	SNP	C	TCGA-CV-6934-01A-11D-1912-08	6353940	50052074	105218486	105	44714											
ATG4A	115201	broad.mit.edu	37	chrX	107393409	107393409	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcttcttggaccctcAtacaacccagacctttgttg	8	13	6	14	0	4	1	2	0	2	1	4	2	4	2	3	1	2	2	3	1	2	5			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chrX:107393409A>G	ENST00000372232.3	+	10	1001	c.842A>G	c.(841-843)cAt>cGt	p.H281R	ATG4A_ENST00000545696.1_Missense_Mutation_p.H142R|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.H257R|ATG4A_ENST00000489247.1_3'UTR|ATG4A_ENST00000345734.3_Missense_Mutation_p.H219R	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	281					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						TTGGACCCTCATACAACCCAG	0.493													70	200					0	0	0	0	G	107393409	A	G	107393409	3	3	249	1	0	0	0	0	1	0	0	0	1100	217	8	5	880	5	ATG4A	23	107393409	Missense_Mutation	SNP	A	TCGA-CV-6934-01A-11D-1912-08	57341335	107393409	47877151	106	44715											
GPR112	139378	broad.mit.edu	37	chrX	135430046	135430046	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatatactcccaggactgTggaaatgatagtaaactcca	15	9	8	9	0	0	1	0	1	0	0	2	3	2	3	2	2	3	2	2	2	6	4			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chrX:135430046T>C	ENST00000394143.1	+	6	4472	c.4181T>C	c.(4180-4182)gTg>gCg	p.V1394A	GPR112_ENST00000412101.1_Missense_Mutation_p.V1189A|GPR112_ENST00000394141.1_Missense_Mutation_p.V1189A|GPR112_ENST00000370652.1_Missense_Mutation_p.V1394A|GPR112_ENST00000287534.4_Missense_Mutation_p.V1331A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1394					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCCAGGACTGTGGAAATGATA	0.453													49	175					0	0	0	0	C	135430046	T	C	135430046	3	2	249	1	0	0	0	0	1	0	0	0	6678	1696	59	5	4191	5	GPR112	23	135430046	Missense_Mutation	SNP	T	TCGA-CV-6934-01A-11D-1912-08	28036637	135430046	19840514	107	44716											
MAGEA5	4104	broad.mit.edu	37	chrX	151283638	151283638	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtgaccggctccttgacTtaatacttgaggagcagaaa	11	12	10	8	1	0	4	0	3	0	1	1	5	1	5	2	2	2	2	2	2	3	5			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chrX:151283638T>G	ENST00000509345.2	-	0	698																											GCTCCTTGACTTAATACTTGA	0.512													34	136					0	0	0	0	G	151283638	T	G	151283638	1	3	249	0	1	0	0	0	0	0	0	0	9236	1616	56	5		5	MAGEA5	23	151283638	RNA	SNP	T	TCGA-CV-6934-01A-11D-1912-08	15853592	151283638	3986922	108	44717											
PRAMEF10	343071	broad.mit.edu	37	chr1	12955542	12955542	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcctcaaaacgtctcAtgctgaaggcctccatgaac	11	8	9	13	1	3	2	3	2	1	0	5	2	4	2	3	2	3	1	3	2	4	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:12955542A>C	ENST00000235347.4	-	2	216	c.137T>G	c.(136-138)aTg>aGg	p.M46R		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	46										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAACGTCTCATGCTGAAGGC	0.572													33	21					0	0	0	0	C	12955542	A	C	12955542	3	2	250	1	0	0	0	0	1	0	0	0	12502	217	8	5	1299	5	PRAMEF10	1	12955542	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08		12955542	236295079	1	44718											
DDI2	84301	broad.mit.edu	37	chr1	15956910	15956910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaacacagcagtcccactCatctcctggagaaataactt	14	8	7	12	0	2	1	1	0	1	1	4	3	3	2	2	2	3	1	2	2	3	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:15956910C>T	ENST00000480945.1	+	3	530	c.359C>T	c.(358-360)tCa>tTa	p.S120L		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	120					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGTCCCACTCATCTCCTGGA	0.542													33	15					0	0	0	0	T	15956910	C	T	15956910	3	4	250	1	0	0	0	0	1	0	0	0	4361	838	29	2	369	2	DDI2	1	15956910	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	3001368	15956910	233293711	2	44719											
CLCNKB	1188	broad.mit.edu	37	chr1	16380200	16380200	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggccaaggacatgccActggaggaggtggtcaaggt	11	6	15	9	0	1	0	1	0	0	0	1	3	1	3	2	7	1	0	2	7	2	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:16380200A>G	ENST00000375679.4	+	16	1800	c.1689A>G	c.(1687-1689)ccA>ccG	p.P563P	CLCNKB_ENST00000375667.3_Silent_p.P394P	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AGGACATGCCACTGGAGGAGG	0.632													15	15					0	0	0	0	G	16380200	A	G	16380200	2	3	250	1	0	0	0	0	0	0	0	1	3500	146	6	5		5	CLCNKB	1	16380200	Silent	SNP	A	TCGA-CV-6935-01A-11D-1912-08	423290	16380200	232870421	3	44720											
PABPC4	8761	broad.mit.edu	37	chr1	40030930	40030930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcctctgggccagggcaaCatatagtggcttggagccca	8	9	12	12	0	1	0	0	0	1	0	2	1	2	1	3	4	2	2	3	4	3	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:40030930C>A	ENST00000372857.3	-	8	1885	c.1093G>T	c.(1093-1095)Gtt>Ttt	p.V365F	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.V365F|PABPC4_ENST00000372858.3_Missense_Mutation_p.V365F|PABPC4_ENST00000372862.3_Missense_Mutation_p.V365F	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	365	RRM 4.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCAGGGCAACATATAGTGGC	0.507													30	17					8.4185e-14	1.14919e-13	1	0	A	40030930	C	A	40030930	3	1	250	1	0	0	0	0	1	0	0	0	11437	478	17	4	921	4	PABPC4	1	40030930	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	23650730	40030930	209219691	4	44721											
STIL	6491	broad.mit.edu	37	chr1	47717390	47717390	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgtattaatatggagaagGctgaatgggtcacaattatt	13	14	10	4	0	2	2	1	1	1	1	2	3	2	2	0	3	0	2	0	3	7	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:47717390G>A	ENST00000360380.3	-	18	3645	c.3282C>T	c.(3280-3282)agC>agT	p.S1094S	STIL_ENST00000396221.2_Silent_p.S1077S|STIL_ENST00000337817.5_Silent_p.S1094S|STIL_ENST00000371877.3_Silent_p.S1095S|STIL_ENST00000243182.6_Silent_p.S1094S			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1094					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TATGGAGAAGGCTGAATGGGT	0.373													69	42					0	0	0	0	A	47717390	G	A	47717390	2	1	250	1	0	0	0	0	0	0	0	1	15372	1194	42	4		4	STIL	1	47717390	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	7686460	47717390	201533231	5	44722											
LEPR	3953	broad.mit.edu	37	chr1	66081724	66081724	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgactcattgtgcagtgttCagagatatgtgataaaccat	13	13	9	6	0	2	3	2	2	0	1	2	4	2	3	1	0	2	2	1	0	3	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:66081724C>T	ENST00000349533.6	+	15	2214	c.2029C>T	c.(2029-2031)Cag>Tag	p.Q677*	LEPR_ENST00000344610.8_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.Q677*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.Q677*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	677	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTGCAGTGTTCAGAGATATGT	0.393													15	15					0	0	0	0	T	66081724	C	T	66081724	4	4	250	1	0	0	0	0	0	1	0	0	8781	827	29	2	2079	2	LEPR	1	66081724	Nonsense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	18364334	66081724	183168897	6	44723											
C1orf173	127254	broad.mit.edu	37	chr1	75037100	75037100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagggctcctggagtgcCcaccccagcctctgttgtat	5	10	10	16	0	1	0	0	0	1	0	3	1	3	1	6	2	2	3	6	2	1	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:75037100C>A	ENST00000326665.5	-	14	4512	c.4294G>T	c.(4294-4296)Ggc>Tgc	p.G1432C	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1432	Glu-rich.									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						CCTGGAGTGCCCACCCCAGCC	0.612													58	33					2.43698e-19	3.61345e-19	1	0	A	75037100	C	A	75037100	3	1	250	1	0	0	0	0	1	0	0	0	2033	623	22	4	302	4	C1orf173	1	75037100	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	8955376	75037100	174213521	7	44724											
AGL	178	broad.mit.edu	37	chr1	100327061	100327061	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgtgctttttatttagggTatgagctacagttccgatta	9	17	9	6	1	0	1	0	1	0	0	1	2	1	1	1	1	3	4	1	1	5	9			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:100327061T>C	ENST00000294724.4	+	3	563	c.85T>C	c.(85-87)Tat>Cat	p.Y29H	AGL_ENST00000361522.4_Missense_Mutation_p.Y12H|AGL_ENST00000361302.3_Missense_Mutation_p.Y13H|AGL_ENST00000370163.3_Missense_Mutation_p.Y29H|AGL_ENST00000361915.3_Missense_Mutation_p.Y29H|AGL_ENST00000370161.2_Missense_Mutation_p.Y13H|AGL_ENST00000370165.3_Missense_Mutation_p.Y29H	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	29					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTATTTAGGGTATGAGCTACA	0.308													12	9					0	0	0	0	C	100327061	T	C	100327061	3	2	250	1	0	0	0	0	1	0	0	0	384	1638	57	5	160	5	AGL	1	100327061	Missense_Mutation	SNP	T	TCGA-CV-6935-01A-11D-1912-08	25289961	100327061	148923560	8	44725											
MAGI3	260425	broad.mit.edu	37	chr1	114216018	114216018	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctccgaggggggaaggaGtacaacatggggctgttcat	10	7	16	8	1	1	0	1	0	0	0	2	3	2	2	2	6	3	3	2	6	3	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:114216018G>A	ENST00000369615.1	+	19	3182	c.3120G>A	c.(3118-3120)gaG>gaA	p.E1040E	MAGI3_ENST00000307546.9_Silent_p.E1040E|MAGI3_ENST00000369617.4_Silent_p.E1065E|MAGI3_ENST00000369611.4_Silent_p.E1040E	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1065					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGGAAGGAGTACAACATGG	0.488													64	39					0	0	0	0	A	114216018	G	A	114216018	2	1	250	1	0	0	0	0	0	0	0	1	9261	1020	36	4		4	MAGI3	1	114216018	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	13888957	114216018	135034603	9	44726											
MTMR11	10903	broad.mit.edu	37	chr1	149905389	149905389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtctaccaggacaacatCtgaatgcccagcctggagca	12	7	10	12	0	2	1	0	1	2	0	2	3	2	3	3	2	5	1	3	2	3	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:149905389C>T	ENST00000439741.2	-	10	1145	c.895G>A	c.(895-897)Gat>Aat	p.D299N	MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Missense_Mutation_p.D271N|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.D227N	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	299	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGGACAACATCTGAATGCCCA	0.547													31	105					0	0	0	0	T	149905389	C	T	149905389	3	4	250	1	0	0	0	0	1	0	0	0	10010	913	32	2	1305	2	MTMR11	1	149905389	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	35689371	149905389	99345232	10	44727											
RFX5	5993	broad.mit.edu	37	chr1	151315026	151315026	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtctcccatggtaaccttGaggactgggcagattccatg	9	11	11	10	0	1	2	0	1	1	1	3	3	2	3	3	3	1	2	3	3	1	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:151315026G>C	ENST00000290524.4	-	11	1665	c.1487C>G	c.(1486-1488)tCa>tGa	p.S496*	RFX5_ENST00000368870.2_Nonsense_Mutation_p.S496*|RFX5_ENST00000452513.2_Nonsense_Mutation_p.S456*|RFX5_ENST00000452671.2_Nonsense_Mutation_p.S496*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	496						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGTAACCTTGAGGACTGGGC	0.577													83	194					0	0	0	0	C	151315026	G	C	151315026	4	2	250	1	0	0	0	0	0	1	0	0	13348	1294	45	2	367	2	RFX5	1	151315026	Nonsense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	1409637	151315026	97935595	11	44728											
NUP210L	91181	broad.mit.edu	37	chr1	154034118	154034118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccaatcagtacagtccCttttatctgatgtactttaa	11	15	5	10	0	2	1	1	1	1	0	4	2	4	1	2	0	2	2	2	0	5	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:154034118C>T	ENST00000368559.3	-	18	2658	c.2587G>A	c.(2587-2589)Ggg>Agg	p.G863R	NUP210L_ENST00000271854.3_Missense_Mutation_p.G863R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	863						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTACAGTCCCTTTTATCTGA	0.338													27	53					0	0	0	0	T	154034118	C	T	154034118	3	4	250	1	0	0	0	0	1	0	0	0	10832	681	24	4	3171	4	NUP210L	1	154034118	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	2719092	154034118	95216503	12	44729											
OR6K2	81448	broad.mit.edu	37	chr1	158669597	158669597	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggttgaagaagggagaCaaaactgcaaaggccagagc	16	4	15	6	0	0	4	0	1	0	3	0	5	0	4	1	4	3	2	1	4	5	1	rs141159720	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:158669597C>G	ENST00000359610.2	-	1	889	c.846G>C	c.(844-846)ttG>ttC	p.L282F		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAAGGGAGACAAAACTGCAA	0.403													10	29					0	0	0	0	G	158669597	C	G	158669597	3	3	250	1	0	0	0	0	1	0	0	0	11273	477	17	4	132	4	OR6K2	1	158669597	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	4635479	158669597	90581024	13	44730											
ARHGAP30	257106	broad.mit.edu	37	chr1	161022564	161022564	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtccctggaagcgatcGccacccactctccacctcac	7	6	8	20	3	2	0	1	0	1	0	5	2	3	1	6	2	1	0	6	2	1	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:161022564G>A	ENST00000368013.3	-	7	1008	c.688C>T	c.(688-690)Cga>Tga	p.R230*	ARHGAP30_ENST00000368016.3_Nonsense_Mutation_p.R230*|ARHGAP30_ENST00000368015.1_Nonsense_Mutation_p.R53*	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	230					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGAAGCGATCGCCACCCACTC	0.607													27	39					0	0	0	0	A	161022564	G	A	161022564	4	1	250	1	0	0	0	0	0	1	0	0	881	1095	38	1	2641	1	ARHGAP30	1	161022564	Nonsense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	2352967	161022564	88228057	14	44731											
DUSP12	11266	broad.mit.edu	37	chr1	161719654	161719654	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccccagcgccagcagagtCagctgtgccgggcagatgct	9	5	13	14	2	1	2	1	0	0	2	1	2	1	2	4	1	6	4	4	1	1	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:161719654C>T	ENST00000367943.4	+	1	95	c.63C>T	c.(61-63)gtC>gtT	p.V21V	DUSP12_ENST00000484291.1_3'UTR	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	21					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CCAGCAGAGTCAGCTGTGCCG	0.672													4	16					0	0	0	0	T	161719654	C	T	161719654	2	4	250	1	0	0	0	0	0	0	0	1	4848	813	29	2		2	DUSP12	1	161719654	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	697090	161719654	87530967	15	44732											
PRRX1	5396	broad.mit.edu	37	chr1	170688866	170688866	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcattgtgttctattccaGatgaccagctgaactcagaa	12	12	7	10	0	3	4	2	2	1	2	4	4	4	4	2	0	2	2	2	0	3	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:170688866G>C	ENST00000239461.6	+	2	554		c.e2-1		PRRX1_ENST00000497230.2_Splice_Site|PRRX1_ENST00000367760.3_Splice_Site	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCTATTCCAGATGACCAGCT	0.408													14	19					0	0	0	0	C	170688866	G	C	170688866	5	2	250	1	0	0	0	0	0	0	1	0	12691	956	33	2	247	2	PRRX1	1	170688866	Splice_Site	SNP	G	TCGA-CV-6935-01A-11D-1912-08	8969212	170688866	78561755	16	44733											
TNR	7143	broad.mit.edu	37	chr1	175362961	175362962	+	Frame_Shift_Ins	INS	-	-	A																															catcgaaggaaaatgagaagINSggctcccactgcacctccac																										TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:175362961_175362962insA	ENST00000367674.1	-	6	2018_2019	c.1310_1311insT	c.(1309-1311)cttfs	p.L437fs	TNR_ENST00000263525.2_Frame_Shift_Ins_p.L437fs	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	437	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAAATGAGAAGGGCTCCCACTG	0.455													164	157	---	---	---	---					A	175362962	-	A	175362961	7	5	250	1	0	1	1	0	0	0	0	0	16432	987	35	0	2837	0	TNR	1	175362961	Frame_Shift_Ins	INS	-	TCGA-CV-6935-01A-11D-1912-08	4674095	175362961	73887660	17	44734											
CACNA1E	777	broad.mit.edu	37	chr1	181680164	181680164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgccagcagcagattgAgcgtgagctgaatggctacc	9	6	15	11	3	0	4	0	3	0	1	0	4	0	4	2	2	5	4	2	2	2	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:181680164A>G	ENST00000526775.1	+	8	1295	c.1130A>G	c.(1129-1131)gAg>gGg	p.E377G	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E377G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E377G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E377G|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E328G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	377	Binding to the beta subunit (By similarity).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCAGATTGAGCGTGAGCTG	0.577													39	98					0	0	0	0	G	181680164	A	G	181680164	3	3	250	1	0	0	0	0	1	0	0	0	2567	304	11	5	1160	5	CACNA1E	1	181680164	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	6317203	181680164	67570457	18	44735											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185276680	185276680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttgtaacaaatgctcctGaatataagcatcaaccttat	16	13	4	8	0	1	1	1	1	0	0	2	1	2	1	2	0	4	3	2	0	8	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:185276680G>C	ENST00000367498.3	-	6	1094	c.472C>G	c.(472-474)Cag>Gag	p.Q158E	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	158	BACK.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AAATGCTCCTGAATATAAGCA	0.363													25	70					0	0	0	0	C	185276680	G	C	185276680	3	2	250	1	0	0	0	0	1	0	0	0	7983	1299	45	2	1496	2	IVNS1ABP	1	185276680	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	3596516	185276680	63973941	19	44736											
HMCN1	83872	broad.mit.edu	37	chr1	185946936	185946936	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcacctccagttttcataCaagaacctgctgatgtgtct	10	12	7	12	0	2	2	1	1	1	1	3	2	3	2	3	0	4	3	3	0	3	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:185946936C>T	ENST00000271588.4	+	16	2618	c.2389C>T	c.(2389-2391)Caa>Taa	p.Q797*	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q797*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	797	Ig-like C2-type 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTTTTCATACAAGAACCTGC	0.343													49	61					0	0	0	0	T	185946936	C	T	185946936	4	4	250	1	0	0	0	0	0	1	0	0	7270	479	17	4	2451	4	HMCN1	1	185946936	Nonsense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	670256	185946936	63303685	20	44737											
CRB1	23418	broad.mit.edu	37	chr1	197390341	197390355	+	In_Frame_Del	DEL	AGATGGCCAGCATGG	AGATGGCCAGCATGG	-																															acatgcatccctcacttccaAgatggccagcatggattcag																										TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:197390341_197390355delAGATGGCCAGCATGG	ENST00000367400.3	+	6	1518_1532	c.1383_1397delAGATGGCCAGCATGG	c.(1381-1398)caa>ca	p.QDGQHG461del	CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_In_Frame_Del_p.QDGQHG160del|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367399.2_In_Frame_Del_p.QDGQHG349del|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_In_Frame_Del_p.QDGQHG461del|CRB1_ENST00000535699.1_In_Frame_Del_p.QDGQHG392del	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	461	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCACTTCCAAGATGGCCAGCATGGATTCAGCTGC	0.484													19	62	---	---	---	---					-	197390355	AGATGGCCAGCATGG	-	197390341	7	5	250	1	0	1	0	1	0	0	0	0	3878	69	3	0	1405	0	CRB1	1	197390341	In_Frame_Del	DEL	AGATGGCCAGCATGG	TCGA-CV-6935-01A-11D-1912-08	11443405	197390341	51860280	21	44738											
PRELP	5549	broad.mit.edu	37	chr1	203452824	203452824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccctcggccctgccccGgaacctggagcagctgaggc	5	5	14	17	2	0	1	0	1	0	0	2	3	1	3	6	5	4	2	6	5	1	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:203452824G>A	ENST00000343110.2	+	2	639	c.512G>A	c.(511-513)cGg>cAg	p.R171Q		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	171					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCCTGCCCCGGAACCTGGAG	0.597													5	149					0	0	0	0	A	203452824	G	A	203452824	3	1	250	1	0	0	0	0	1	0	0	0	12553	1116	39	1	514	1	PRELP	1	203452824	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	6062483	203452824	45797797	22	44739											
RYR2	6262	broad.mit.edu	37	chr1	237660034	237660034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcctatggatttgatGgccttcatctctggtcaggt	5	17	9	10	0	5	1	2	1	3	0	7	2	5	2	2	4	0	0	2	4	1	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:237660034G>C	ENST00000366574.2	+	20	2502	c.2185G>C	c.(2185-2187)Ggc>Cgc	p.G729R	RYR2_ENST00000360064.6_Missense_Mutation_p.G727R|RYR2_ENST00000542537.1_Missense_Mutation_p.G713R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	729	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGATTTGATGGCCTTCATCT	0.493													65	188					0	0	0	0	C	237660034	G	C	237660034	3	2	250	1	0	0	0	0	1	0	0	0	13854	1348	47	4	2263	4	RYR2	1	237660034	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	34207210	237660034	11590587	23	44740											
RYR2	6262	broad.mit.edu	37	chr1	237865319	237865319	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttatagaattctgactagcTtatatgctttgggaaccagc	11	14	9	7	0	1	2	0	1	1	1	1	3	1	3	1	1	4	3	1	1	7	7			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:237865319T>A	ENST00000366574.2	+	66	9726	c.9409T>A	c.(9409-9411)Tta>Ata	p.L3137I	RYR2_ENST00000360064.6_Missense_Mutation_p.L3135I|RYR2_ENST00000542537.1_Missense_Mutation_p.L3121I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3137					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGACTAGCTTATATGCTTT	0.328													32	16					0	0	0	0	A	237865319	T	A	237865319	3	1	250	1	0	0	0	0	1	0	0	0	13854	1606	56	5	9671	5	RYR2	1	237865319	Missense_Mutation	SNP	T	TCGA-CV-6935-01A-11D-1912-08	205285	237865319	11385302	24	44741											
FMN2	56776	broad.mit.edu	37	chr1	240370643	240370643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaaccagccacgaacactCtgtttcctctgcctttaaaa	12	11	4	14	1	3	0	1	0	2	0	4	1	4	0	4	0	4	1	4	0	4	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:240370643C>T	ENST00000319653.9	+	5	2761	c.2531C>T	c.(2530-2532)tCt>tTt	p.S844F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	844	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACGAACACTCTGTTTCCTCT	0.562													73	68					0	0	0	0	T	240370643	C	T	240370643	3	4	250	1	0	0	0	0	1	0	0	0	5995	913	32	2	2549	2	FMN2	1	240370643	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	2505324	240370643	8879978	25	44742											
RGS7	6000	broad.mit.edu	37	chr1	240964780	240964780	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtgcaaatttttcaaaaGatgttctgcgatccattgag	11	15	8	7	1	3	2	1	1	2	1	4	3	4	2	1	0	2	2	1	0	3	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:240964780G>C	ENST00000366565.1	-	17	1769	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	RGS7_ENST00000331110.7_Intron|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000407727.1_Missense_Mutation_p.S463C	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	463					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTTCAAAAGATGTTCTGCG	0.333													10	18					0	0	0	0	C	240964780	G	C	240964780	3	2	250	1	0	0	0	0	1	0	0	0	13393	942	33	2	83	2	RGS7	1	240964780	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	594137	240964780	8285841	26	44743											
KIF26B	55083	broad.mit.edu	37	chr1	245849620	245849620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccctcgagcaaggattccgGcgtggcgtctagggagtcct	6	9	14	12	4	1	0	0	0	1	0	5	3	4	2	3	4	1	1	3	4	2	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:245849620G>T	ENST00000366518.4	+	9	2296	c.2192G>T	c.(2191-2193)gGc>gTc	p.G731V	KIF26B_ENST00000407071.2_Missense_Mutation_p.G1112V			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1112	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGGATTCCGGCGTGGCGTCT	0.612													56	125					3.31993e-32	5.28729e-32	1	0	T	245849620	G	T	245849620	3	4	250	1	0	0	0	0	1	0	0	0	8346	1203	42	4	3381	4	KIF26B	1	245849620	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	4884840	245849620	3401001	27	44744											
OR2T1	26696	broad.mit.edu	37	chr1	248569514	248569514	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcaacagaaaggaaacCtcaggtcttatttttgccat	12	13	7	9	0	3	1	2	0	1	1	3	2	3	2	2	2	3	1	2	2	4	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:248569514C>A	ENST00000366474.1	+	1	219	c.219C>A	c.(217-219)acC>acA	p.T73T		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAAGGAAACCTCAGGTCTTA	0.423													83	73					1.20873e-29	1.89865e-29	1	0	A	248569514	C	A	248569514	2	1	250	1	0	0	0	0	0	0	0	1	11087	668	24	4		4	OR2T1	1	248569514	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	2719894	248569514	681107	28	44745											
OR2T3	343173	broad.mit.edu	37	chr1	248637225	248637225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactcctgccctgctgaagCtctcctgctctgacgtctcc	5	11	8	17	1	3	3	0	2	3	1	6	3	4	3	4	0	4	3	4	0	1	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:248637225C>T	ENST00000359594.2	+	1	599	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTGAAGCTCTCCTGCTC	0.517													192	155					0	0	0	0	T	248637225	C	T	248637225	3	4	250	1	0	0	0	0	1	0	0	0	11094	797	28	4	576	4	OR2T3	1	248637225	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	67711	248637225	613396	29	44746											
OR2T3	343173	broad.mit.edu	37	chr1	248637239	248637239	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagctctcctgctctgaCgtctccctctataagacgct	7	12	7	15	2	4	3	0	2	4	1	6	3	4	3	2	0	2	3	2	0	3	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:248637239C>G	ENST00000359594.2	+	1	613	c.588C>G	c.(586-588)gaC>gaG	p.D196E		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTCTGACGTCTCCCTCT	0.522													107	273					0	0	0	0	G	248637239	C	G	248637239	3	3	250	1	0	0	0	0	1	0	0	0	11094	535	19	3	590	3	OR2T3	1	248637239	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	14	248637239	613382	30	44747											
KIDINS220	57498	broad.mit.edu	37	chr2	8936972	8936972	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaatgtttctcatcttggTagcctttataagtggcgttt	7	19	8	7	1	3	0	2	0	2	0	4	0	3	0	1	2	1	3	1	2	4	8			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:8936972T>C	ENST00000256707.3	-	11	1208	c.1027A>G	c.(1027-1029)Acc>Gcc	p.T343A	KIDINS220_ENST00000427284.1_Missense_Mutation_p.T343A|KIDINS220_ENST00000319688.5_Missense_Mutation_p.T344A|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T301A|KIDINS220_ENST00000473731.1_Missense_Mutation_p.T343A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	343					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCATCTTGGTAGCCTTTATA	0.418													64	121					0	0	0	0	C	8936972	T	C	8936972	3	2	250	1	0	0	0	0	1	0	0	0	8322	1638	57	5	4368	5	KIDINS220	2	8936972	Missense_Mutation	SNP	T	TCGA-CV-6935-01A-11D-1912-08		8936972	234262401	31	44748											
APOB	338	broad.mit.edu	37	chr2	21228818	21228818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctctggaaagacccaGaatgaatccggacttcattt	11	10	9	11	1	2	3	1	1	1	2	3	5	3	5	3	3	0	1	3	3	3	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:21228818G>T	ENST00000233242.1	-	26	11049	c.10922C>A	c.(10921-10923)tCt>tAt	p.S3641Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3641					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAAAGACCCAGAATGAATCCG	0.463													14	26					1.5842e-08	2.01094e-08	1	0	T	21228818	G	T	21228818	3	4	250	1	0	0	0	0	1	0	0	0	787	942	33	2	2785	2	APOB	2	21228818	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	12291846	21228818	221970555	32	44749											
BIRC6	57448	broad.mit.edu	37	chr2	32728276	32728276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctgagcctgacaatgctGaagggattcataactttgca	11	12	9	9	0	2	3	1	3	1	0	2	4	2	4	1	1	4	2	1	1	3	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:32728276G>A	ENST00000421745.2	+	49	9606	c.9472G>A	c.(9472-9474)Gaa>Aaa	p.E3158K		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3158					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGACAATGCTGAAGGGATTCA	0.338													7	17					0	0	0	0	A	32728276	G	A	32728276	3	1	250	1	0	0	0	0	1	0	0	0	1443	1291	45	2	9666	2	BIRC6	2	32728276	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	11499458	32728276	210471097	33	44750											
LRRTM1	347730	broad.mit.edu	37	chr2	80529897	80529897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgtccaggacgtcctcgcCctgtgcgtactccgggctgg	3	8	15	15	5	0	0	0	0	0	0	4	1	3	1	4	4	2	2	4	4	1	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:80529897C>A	ENST00000295057.3	-	2	1704	c.1048G>T	c.(1048-1050)Ggc>Tgc	p.G350C	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.G350C|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	350	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ACGTCCTCGCCCTGTGCGTAC	0.672										HNSCC(69;0.2)			14	20					1.5842e-08	1.99071e-08	1	0	A	80529897	C	A	80529897	3	1	250	1	0	0	0	0	1	0	0	0	9103	623	22	4	524	4	LRRTM1	2	80529897	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	47801621	80529897	162669476	34	44751											
MITD1	129531	broad.mit.edu	37	chr2	99797327	99797327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggagcagatcaatcccctCttggtaacacaccagagcct	12	7	8	14	0	2	2	1	0	1	2	3	3	3	3	4	2	3	2	4	2	2	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:99797327C>T	ENST00000289359.2	-	1	194	c.118G>A	c.(118-120)Gag>Aag	p.E40K	MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	40	MIT.				protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						TCAATCCCCTCTTGGTAACAC	0.582													65	104					0	0	0	0	T	99797327	C	T	99797327	3	4	250	1	0	0	0	0	1	0	0	0	9664	922	32	2	659	2	MITD1	2	99797327	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	19267430	99797327	143402046	35	44752											
ARHGAP15	55843	broad.mit.edu	37	chr2	143913079	143913079	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgcagaaatctacaaattCtgatacttccgtggaaacac	15	11	6	9	1	2	2	0	1	2	1	3	3	3	3	1	1	4	1	1	1	6	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:143913079C>G	ENST00000409869.1	+	3	197	c.20C>G	c.(19-21)tCt>tGt	p.S7C	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.S7C			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	7					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCTACAAATTCTGATACTTCC	0.373													11	18					0	0	0	0	G	143913079	C	G	143913079	3	3	250	1	0	0	0	0	1	0	0	0	868	913	32	2	22	2	ARHGAP15	2	143913079	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	44115752	143913079	99286294	36	44753											
ARHGAP15	55843	broad.mit.edu	37	chr2	143913203	143913203	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatccatgatcctcaccgaTgtcgggaaggtcactgaacc	12	8	9	12	2	2	2	2	2	0	0	5	4	4	3	4	2	1	0	4	2	3	0	rs146989390	by1000genomes	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:143913203T>C	ENST00000409869.1	+	3	321	c.144T>C	c.(142-144)gaT>gaC	p.D48D	ARHGAP15_ENST00000295095.6_Silent_p.D48D			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	48					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCCTCACCGATGTCGGGAAGG	0.423													26	23					0	0	0	0	C	143913203	T	C	143913203	2	2	250	1	0	0	0	0	0	0	0	1	868	1461	51	5		5	ARHGAP15	2	143913203	Silent	SNP	T	TCGA-CV-6935-01A-11D-1912-08	124	143913203	99286170	37	44754											
KCNJ3	3760	broad.mit.edu	37	chr2	155711512	155711512	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actagatgatattactacaaAactaccatctaagctgcaga	17	10	5	9	0	1	3	0	1	1	2	1	3	1	3	1	0	6	2	1	0	8	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:155711512A>G	ENST00000295101.2	+	3	1670	c.1193A>G	c.(1192-1194)aAa>aGa	p.K398R	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	398					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATTACTACAAAACTACCATCT	0.388													64	98					0	0	0	0	G	155711512	A	G	155711512	3	3	250	1	0	0	0	0	1	0	0	0	8105	14	1	5	1203	5	KCNJ3	2	155711512	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	11798309	155711512	87487861	38	44755											
SCN3A	6328	broad.mit.edu	37	chr2	165986510	165986510	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcacatggtttggccagcGacctccatacagtcccacat	10	8	9	14	1	0	0	0	0	0	0	2	1	2	0	4	3	2	2	4	3	1	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:165986510G>T	ENST00000360093.3	-	17	3353	c.2862C>A	c.(2860-2862)gtC>gtA	p.V954V	SCN3A_ENST00000283254.7_Silent_p.V954V|SCN3A_ENST00000409101.3_Silent_p.V905V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	954						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTTGGCCAGCGACCTCCATAC	0.468													188	143					3.0798e-103	5.11812e-103	1	0	T	165986510	G	T	165986510	2	4	250	1	0	0	0	0	0	0	0	1	14005	1045	37	3		3	SCN3A	2	165986510	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	10274998	165986510	77212863	39	44756											
NFE2L2	4780	broad.mit.edu	37	chr2	178098973	178098973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccaagatctatatcttgcctCcaaagtatgtcaatcaaatc	14	12	4	11	0	4	1	2	0	2	1	6	1	5	1	3	0	1	1	3	0	7	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:178098973C>G	ENST00000397062.3	-	2	626	c.72G>C	c.(70-72)tgG>tgC	p.W24C	NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8C|NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8C|NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8C|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8C	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	24					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.W24C(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TATCTTGCCTCCAAAGTATGT	0.348			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			19	20					0	0	0	0	G	178098973	C	G	178098973	3	3	250	1	0	0	0	0	1	0	0	0	10438	856	30	2	1761	2	NFE2L2	2	178098973	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	12112463	178098973	65100400	40	44757											
TTN	7273	broad.mit.edu	37	chr2	179465721	179465721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcagttcttccacatcaCgcttattgcactgcctccag	8	13	6	14	1	2	0	1	0	1	0	4	0	4	0	3	0	3	4	3	0	1	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:179465721C>A	ENST00000589042.1	-	288	56134	c.55910G>T	c.(55909-55911)cGt>cTt	p.R18637L	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16069L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9697L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16996L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9764L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9572L|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16996	Fibronectin type-III 35.						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)			TTCCACATCACGCTTATTGCA	0.488													138	102					2.82259e-58	4.62367e-58	1	0	A	179465721	C	A	179465721	3	1	250	1	0	0	0	0	1	0	0	0	16831	536	19	3	52083	3	TTN	2	179465721	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	1366748	179465721	63733652	41	44758											
TTN	7273	broad.mit.edu	37	chr2	179596593	179596593	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattgtgttatctttgaacCaagtgatctcaaagggagga	12	12	12	5	0	2	2	1	2	2	0	3	5	2	5	1	3	1	1	1	3	4	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:179596593C>G	ENST00000589042.1	-	58	17233	c.17009G>C	c.(17008-17010)tGg>tCg	p.W5670S	TTN_ENST00000342992.6_Missense_Mutation_p.W4426S|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.W5353S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5353	Ig-like 37.						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)			ATCTTTGAACCAAGTGATCTC	0.428													37	139					0	0	0	0	G	179596593	C	G	179596593	3	3	250	1	0	0	0	0	1	0	0	0	16831	595	21	4	87740	4	TTN	2	179596593	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	130872	179596593	63602780	42	44759											
FSIP2	401024	broad.mit.edu	37	chr2	186670222	186670223	+	Frame_Shift_Ins	INS	-	-	T																															tgcattcaggattcaaccacINSttttttcaggagactggtct																										TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:186670222_186670223insT	ENST00000343098.5	+	17	16456_16457	c.16456_16457insT	c.(16456-16458)tttfs	p.F5486fs	FSIP2_ENST00000424728.1_Frame_Shift_Ins_p.F5397fs	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GATTCAACCACTTTTTTCAGGA	0.381													23	83	---	---	---	---					T	186670223	-	T	186670222	7	5	250	1	0	1	1	0	0	0	0	0	6123	565	20	0	16522	0	FSIP2	2	186670222	Frame_Shift_Ins	INS	-	TCGA-CV-6935-01A-11D-1912-08	7073629	186670222	56529151	43	44760											
CCDC150	284992	broad.mit.edu	37	chr2	197538986	197538986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgaatgaccaattgactAaaaagtgttcagagttgagc	14	13	9	5	0	1	5	1	4	0	1	1	5	1	5	1	0	1	2	1	0	5	6	rs36060491		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:197538986A>G	ENST00000389175.4	+	10	1186	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	CCDC150_ENST00000272831.7_Missense_Mutation_p.K19E|CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000423093.2_Missense_Mutation_p.K19E	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	351										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CCAATTGACTAAAAAGTGTTC	0.343													7	9					0	0	0	0	G	197538986	A	G	197538986	3	3	250	1	0	0	0	0	1	0	0	0	2810	363	13	5	1089	5	CCDC150	2	197538986	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	10868764	197538986	45660387	44	44761											
AOX1	316	broad.mit.edu	37	chr2	201468754	201468754	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttagacaagtccaaaactCttcgcagaagaggagtttct	13	12	8	8	1	2	3	0	0	2	3	4	4	3	4	1	1	1	2	1	1	5	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:201468754C>G	ENST00000374700.2	+	8	844	c.603C>G	c.(601-603)ctC>ctG	p.L201L		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	201					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.L201L(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTCCAAAACTCTTCGCAGAAG	0.383													32	30					0	0	0	0	G	201468754	C	G	201468754	2	3	250	1	0	0	0	0	0	0	0	1	730	900	32	2		2	AOX1	2	201468754	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	3929768	201468754	41730619	45	44762											
ZDBF2	57683	broad.mit.edu	37	chr2	207170044	207170044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataggaaatctttacgcatGaattcagataagttggtttt	14	15	8	4	1	2	2	1	1	1	1	2	3	2	3	0	2	1	3	0	2	6	8			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:207170044G>C	ENST00000374423.3	+	5	1178	c.792G>C	c.(790-792)atG>atC	p.M264I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	264							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTTTACGCATGAATTCAGATA	0.388													30	25					0	0	0	0	C	207170044	G	C	207170044	3	2	250	1	0	0	0	0	1	0	0	0	17694	1290	45	2	802	2	ZDBF2	2	207170044	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	5701290	207170044	36029329	46	44763											
CPS1	1373	broad.mit.edu	37	chr2	211473158	211473158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattaagaacgtcgtatccGggaagacatcagcctgtttt	13	11	9	8	3	1	2	1	0	0	2	3	3	2	3	2	1	2	2	2	1	5	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:211473158G>A	ENST00000233072.5	+	19	2462	c.2266G>A	c.(2266-2268)Ggg>Agg	p.G756R	CPS1_ENST00000451903.2_Missense_Mutation_p.G305R|CPS1_ENST00000430249.2_Missense_Mutation_p.G762R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	756					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CGTCGTATCCGGGAAGACATC	0.433													76	85					0	0	0	0	A	211473158	G	A	211473158	3	1	250	1	0	0	0	0	1	0	0	0	3853	1116	39	1	2362	1	CPS1	2	211473158	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	4303114	211473158	31726215	47	44764											
TNS1	7145	broad.mit.edu	37	chr2	218751275	218751275	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcctttagactcaaagtTggggatgccgtgcatgatca	10	11	10	10	1	2	2	2	1	0	1	3	3	3	3	3	2	2	2	3	2	2	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:218751275T>A	ENST00000171887.4	-	11	1038	c.586A>T	c.(586-588)Aac>Tac	p.N196Y	TNS1_ENST00000419504.1_Missense_Mutation_p.N196Y|TNS1_ENST00000310858.6_Missense_Mutation_p.N227Y|TNS1_ENST00000430930.1_Missense_Mutation_p.N196Y	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	196	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACTCAAAGTTGGGGATGCCG	0.522											OREG0015188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	5					0	0	0	0	A	218751275	T	A	218751275	3	1	250	1	0	0	0	0	1	0	0	0	16437	1812	63	5	4713	5	TNS1	2	218751275	Missense_Mutation	SNP	T	TCGA-CV-6935-01A-11D-1912-08	7278117	218751275	24448098	48	44765											
PTPRN	5798	broad.mit.edu	37	chr2	220164922	220164922	+	Frame_Shift_Del	DEL	G	G	-																															gcagtggggtgtccaggcatGggggatgtgcgggctggaag																										TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:220164922delG	ENST00000295718.2	-	9	1461	c.1221delC	c.(1219-1221)ccfs	p.P407fs	PTPRN_ENST00000409251.3_Frame_Shift_Del_p.P407fs|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Frame_Shift_Del_p.P317fs	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	407					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTCCAGGCATGGGGGATGTGC	0.632													58	29	---	---	---	---					-	220164922	G	-	220164922	7	5	250	1	0	1	0	1	0	0	0	0	12889	1335	47	0	1778	0	PTPRN	2	220164922	Frame_Shift_Del	DEL	G	TCGA-CV-6935-01A-11D-1912-08	1413647	220164922	23034451	49	44766											
DOCK3	1795	broad.mit.edu	37	chr3	51400017	51400017	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtctctgttctgtcctcGtcccaggcaagcccttcttc	5	13	7	16	2	3	0	0	0	3	0	8	0	5	0	3	1	2	2	3	1	2	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:51400017G>A	ENST00000266037.9	+	49	5228	c.5205G>A	c.(5203-5205)tcG>tcA	p.S1735S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1735	Ser-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTCTGTCCTCGTCCCAGGCAA	0.557													32	18					0	0	0	0	A	51400017	G	A	51400017	2	1	250	1	0	0	0	0	0	0	0	1	4724	1132	40	1		1	DOCK3	3	51400017	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08		51400017	146622413	50	44767											
PDZRN3	23024	broad.mit.edu	37	chr3	73432909	73432909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaggcggtcccgcacgggCctcttggtgatgtagcgcgt	5	8	16	12	5	1	1	0	1	1	0	2	1	2	1	2	4	2	3	2	4	1	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:73432909C>A	ENST00000263666.4	-	10	2922	c.2808G>T	c.(2806-2808)agG>agT	p.R936S	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R658S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R653S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R593S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R593S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	936							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCCGCACGGGCCTCTTGGTGA	0.667													19	13					3.99206e-14	5.47119e-14	1	0	A	73432909	C	A	73432909	3	1	250	1	0	0	0	0	1	0	0	0	11780	738	26	4	396	4	PDZRN3	3	73432909	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	22032892	73432909	124589521	51	44768											
OR5H1	26341	broad.mit.edu	37	chr3	97852283	97852283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcccatctcttctctGtctctttatactatggaccc	6	15	7	13	0	3	0	0	0	3	0	6	2	3	2	2	2	2	0	2	2	3	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:97852283G>T	ENST00000354565.2	+	1	742	c.742G>T	c.(742-744)Gtc>Ttc	p.V248F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TCTCTTCTCTGTCTCTTTATA	0.413													45	160					3.7052e-28	5.76737e-28	1	0	T	97852283	G	T	97852283	3	4	250	1	0	0	0	0	1	0	0	0	11230	1377	48	4	744	4	OR5H1	3	97852283	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	24419374	97852283	100170147	52	44769											
MORC1	27136	broad.mit.edu	37	chr3	108778707	108778707	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatcttccaaagctctcTgtaatacatcctggagaaat	13	12	5	11	0	2	1	0	0	2	1	5	2	4	1	2	1	3	2	2	1	5	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:108778707T>G	ENST00000232603.5	-	12	1059	c.977A>C	c.(976-978)cAg>cCg	p.Q326P	MORC1_ENST00000483760.1_Missense_Mutation_p.Q326P	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	326					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAAAGCTCTCTGTAATACATC	0.358													7	51					0	0	0	0	G	108778707	T	G	108778707	3	3	250	1	0	0	0	0	1	0	0	0	9771	1580	55	5	2045	5	MORC1	3	108778707	Missense_Mutation	SNP	T	TCGA-CV-6935-01A-11D-1912-08	10926424	108778707	89243723	53	44770											
PLXNA1	5361	broad.mit.edu	37	chr3	126736700	126736700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggagacgcaactgctgtgcGaggcgcccaacctcactggg	8	5	14	14	4	1	1	1	0	0	1	1	3	1	1	2	3	4	2	2	3	2	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:126736700G>A	ENST00000251772.4	+	18	3625	c.3556G>A	c.(3556-3558)Gag>Aag	p.E1186K	PLXNA1_ENST00000393409.2_Missense_Mutation_p.E1209K			Q9UIW2	PLXA1_HUMAN	plexin A1	1209	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTGCTGTGCGAGGCGCCCAA	0.662													22	71					0	0	0	0	A	126736700	G	A	126736700	3	1	250	1	0	0	0	0	1	0	0	0	12191	1059	37	1	3695	1	PLXNA1	3	126736700	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	17957993	126736700	71285730	54	44771											
ATP2C1	27032	broad.mit.edu	37	chr3	130698095	130698095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttattatttcctaagttCttgctttggcttctggtcct	5	22	6	8	0	2	0	0	0	2	0	4	0	4	0	2	2	1	3	2	2	3	9			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:130698095C>T	ENST00000510168.1	+	19	2123	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F	ATP2C1_ENST00000513801.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000508532.1_Missense_Mutation_p.L525F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.L520F|ATP2C1_ENST00000422190.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000393221.4_Missense_Mutation_p.L559F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.L525F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.L525F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.L509F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000504381.1_Missense_Mutation_p.L470F			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	525					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTCCTAAGTTCTTGCTTTGGC	0.373									Hailey-Hailey disease				8	164					0	0	0	0	T	130698095	C	T	130698095	3	4	250	1	0	0	0	0	1	0	0	0	1147	913	32	2	1643	2	ATP2C1	3	130698095	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	3961395	130698095	67324335	55	44772											
PLCH1	23007	broad.mit.edu	37	chr3	155203145	155203145	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacttaaagcatcttacCtagagagttttcttttcctt	12	16	5	8	0	2	2	0	0	2	2	3	3	3	2	2	0	3	2	2	0	5	8			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:155203145C>T	ENST00000460012.1	-	22	3241	c.2884_splice	c.e22+1	p.A962_splice	PLCH1_ENST00000494598.1_Splice_Site_p.D980_splice|PLCH1_ENST00000340059.7_Splice_Site_p.A1000_splice|PLCH1_ENST00000414191.1_Splice_Site_p.A962_splice|PLCH1_ENST00000334686.6_Splice_Site_p.A962_splice|PLCH1_ENST00000447496.2_Splice_Site_p.V1000_splice			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1000					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCATCTTACCTAGAGAGTTT	0.423													13	50					0	0	0	0	T	155203145	C	T	155203145	5	4	250	1	0	0	0	0	0	0	1	0	12109	695	24	4	2106	4	PLCH1	3	155203145	Splice_Site	SNP	C	TCGA-CV-6935-01A-11D-1912-08	24505050	155203145	42819285	56	44773											
RSRC1	51319	broad.mit.edu	37	chr3	157920993	157920993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaagagaaaaggagaaGgataaagggaaggacaagga	23	1	16	1	0	0	3	0	0	0	3	0	10	0	7	0	5	0	0	0	5	9	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:157920993G>C	ENST00000295930.3	+	4	615	c.453G>C	c.(451-453)aaG>aaC	p.K151N	RSRC1_ENST00000475278.2_Missense_Mutation_p.K151N|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Missense_Mutation_p.K151N	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	151				EK -> GE (in Ref. 3; AAF64267).	nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			aaaaggagaaggataaaggga	0.448													9	25					0	0	0	0	C	157920993	G	C	157920993	3	2	250	1	0	0	0	0	1	0	0	0	13799	991	35	4	463	4	RSRC1	3	157920993	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	2717848	157920993	40101437	57	44774											
SLC2A2	6514	broad.mit.edu	37	chr3	170716928	170716928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaattagaaagagagaacGtcgccctgccttctccacaa	13	8	7	13	2	1	3	0	0	1	3	4	4	2	3	4	0	2	0	4	0	5	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:170716928G>T	ENST00000314251.3	-	9	1175	c.1096C>A	c.(1096-1098)Cgt>Agt	p.R366S	SLC2A2_ENST00000382808.4_Missense_Mutation_p.R247S	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	366					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AAGAGAGAACGTCGCCCTGCC	0.398													39	107					2.54651e-27	3.94594e-27	1	0	T	170716928	G	T	170716928	3	4	250	1	0	0	0	0	1	0	0	0	14632	1145	40	3	490	3	SLC2A2	3	170716928	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	12795935	170716928	27305502	58	44775											
PIK3CA	5290	broad.mit.edu	37	chr3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-																															ttgaaccagtaggcaaccgtGaagaaaagatcctcaatcga																										TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)del	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	90	---	---	---	---					-	178916940	GAA	-	178916938	7	5	250	1	0	1	0	1	0	0	0	0	11985	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-CV-6935-01A-11D-1912-08	8200010	178916938	19105492	59	44776											
TECRL	253017	broad.mit.edu	37	chr4	65147243	65147243	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaaacatccatgtgaagggGttataatttggacttgggaa	15	11	11	4	0	0	1	0	1	0	0	1	3	1	3	1	4	1	1	1	4	6	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr4:65147243G>A	ENST00000381210.3	-	10	977	c.867C>T	c.(865-867)aaC>aaT	p.N289N	TECRL_ENST00000507440.1_Silent_p.N289N	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	289					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ATGTGAAGGGGTTATAATTTG	0.328													19	7					0	0	0	0	A	65147243	G	A	65147243	2	1	250	1	0	0	0	0	0	0	0	1	15840	1252	44	4		4	TECRL	4	65147243	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08		65147243	126007033	60	44777											
NUDT9	53343	broad.mit.edu	37	chr4	88344060	88344060	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgccctcggggcgctcatGgcgggacgcctcctgggaaa	5	5	16	15	5	1	0	1	0	0	0	3	2	2	2	4	5	0	1	4	5	1	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr4:88344060G>A	ENST00000302174.4	+	1	327	c.3G>A	c.(1-3)atG>atA	p.M1I	NUDT9_ENST00000473942.1_Intron	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	1						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		GGGCGCTCATGGCGGGACGCC	0.672													32	52					0	0	0	0	A	88344060	G	A	88344060	1	1	250	1	0	0	0	0	0	0	0	0	10817	1348	47	4		4	NUDT9	4	88344060	Translation_Start_Site	SNP	G	TCGA-CV-6935-01A-11D-1912-08	23196817	88344060	102810216	61	44778											
ANKRD50	57182	broad.mit.edu	37	chr4	125600031	125600031	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataggctttgctggggaggcTtcattcccagaagagggagt	9	10	15	7	0	1	2	1	0	0	2	2	4	2	4	1	5	1	3	1	5	2	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr4:125600031T>G	ENST00000504087.1	-	3	1579	c.542A>C	c.(541-543)aAg>aCg	p.K181T	ANKRD50_ENST00000515641.1_Missense_Mutation_p.K2T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	181										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTGGGGAGGCTTCATTCCCAG	0.398													3	99					0	0	0	0	G	125600031	T	G	125600031	3	3	250	1	0	0	0	0	1	0	0	0	676	1609	56	5	3755	5	ANKRD50	4	125600031	Missense_Mutation	SNP	T	TCGA-CV-6935-01A-11D-1912-08	37255971	125600031	65554245	62	44779											
PCDH10	57575	broad.mit.edu	37	chr4	134072226	134072226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgccgcgcactggcagactgGaggtaagcggcgagttggac	8	5	17	11	5	0	1	0	0	0	1	0	4	0	3	1	5	1	4	1	5	1	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr4:134072226G>C	ENST00000264360.4	+	1	1757	c.931G>C	c.(931-933)Gag>Cag	p.E311Q		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	311	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGCAGACTGGAGGTAAGCGG	0.632													37	23					0	0	0	0	C	134072226	G	C	134072226	3	2	250	1	0	0	0	0	1	0	0	0	11578	1175	41	2	933	2	PCDH10	4	134072226	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	8472195	134072226	57082050	63	44780											
NPY5R	4889	broad.mit.edu	37	chr4	164272687	164272687	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgatgtcctgttgtcttaAtccaattctatatgggtttc	8	18	7	8	0	2	1	0	1	2	0	5	1	4	1	2	1	0	2	2	1	4	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr4:164272687A>G	ENST00000515560.1	+	4	2784	c.1262A>G	c.(1261-1263)aAt>aGt	p.N421S	NPY5R_ENST00000338566.3_Missense_Mutation_p.N421S|NPY5R_ENST00000506953.1_Missense_Mutation_p.N421S			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	421					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTTGTCTTAATCCAATTCTA	0.328													45	20					0	0	0	0	G	164272687	A	G	164272687	3	3	250	1	0	0	0	0	1	0	0	0	10681	101	4	5	1264	5	NPY5R	4	164272687	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	30200461	164272687	26881589	64	44781											
CEP72	55722	broad.mit.edu	37	chr5	637653	637653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccatggataccgaggactCggcctcttctcagaagttgg	8	10	11	12	2	2	1	1	0	2	1	5	4	3	3	3	4	1	1	3	4	2	3	rs143077618		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:637653C>T	ENST00000264935.5	+	7	1016	c.926C>T	c.(925-927)tCg>tTg	p.S309L	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	309					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			ACCGAGGACTCGGCCTCTTCT	0.527													28	50					0	0	0	0	T	637653	C	T	637653	3	4	250	1	0	0	0	0	1	0	0	0	3289	893	31	1	952	1	CEP72	5	637653	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08		637653	180277607	65	44782											
DNAH5	1767	broad.mit.edu	37	chr5	13719184	13719184	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgaaatcaagtcccagatgGcagttctgcagaagtgccca	13	8	10	10	0	2	3	1	1	1	2	3	3	3	3	2	1	2	3	2	1	3	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:13719184G>T	ENST00000265104.4	-	72	12410	c.12306C>A	c.(12304-12306)tgC>tgA	p.C4102*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4102	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCCCAGATGGCAGTTCTGCA	0.418									Kartagener syndrome				22	29					1.10513e-12	1.49085e-12	1	0	T	13719184	G	T	13719184	4	4	250	1	0	0	0	0	0	1	0	0	4641	1195	42	4	1600	4	DNAH5	5	13719184	Nonsense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	13081531	13719184	167196076	66	44783											
FBXL7	23194	broad.mit.edu	37	chr5	15616151	15616151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtacagatcacacgcccactAaagcccagaagaatgtggct	14	6	9	12	1	1	3	1	0	0	3	1	3	1	3	2	1	2	2	2	1	5	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:15616151A>G	ENST00000504595.1	+	2	578	c.97A>G	c.(97-99)Aaa>Gaa	p.K33E	FBXL7_ENST00000329673.7_Missense_Mutation_p.K21E|FBXL7_ENST00000510662.1_5'UTR	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	33					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CACGCCCACTAAAGCCCAGAA	0.453													10	25					0	0	0	0	G	15616151	A	G	15616151	3	3	250	1	0	0	0	0	1	0	0	0	5769	363	13	5	103	5	FBXL7	5	15616151	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	1896967	15616151	165299109	67	44784											
CDH9	1007	broad.mit.edu	37	chr5	26885803	26885803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaggatcagggcttctgcgGtgcaggattgcatgtttcct	8	12	13	8	1	2	0	1	0	1	0	3	2	3	2	1	4	3	4	1	4	1	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:26885803G>T	ENST00000231021.4	-	11	1974	c.1802C>A	c.(1801-1803)aCc>aAc	p.T601N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	601	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGCTTCTGCGGTGCAGGATTG	0.488													6	20					5.9392e-07	7.32288e-07	1	0	T	26885803	G	T	26885803	3	4	250	1	0	0	0	0	1	0	0	0	3146	1261	44	4	575	4	CDH9	5	26885803	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	11269652	26885803	154029457	68	44785											
DAB2	1601	broad.mit.edu	37	chr5	39376143	39376143	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctttaaagaaagggttctCaaatgcattgtcagtagatt	14	14	8	5	0	3	2	2	0	2	2	4	2	3	2	0	1	1	3	0	1	5	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:39376143C>G	ENST00000320816.6	-	13	2670	c.2203G>C	c.(2203-2205)Gag>Cag	p.E735Q	DAB2_ENST00000509337.1_Missense_Mutation_p.E714Q|DAB2_ENST00000545653.1_Missense_Mutation_p.E714Q|DAB2_ENST00000339788.6_Missense_Mutation_p.E517Q	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	735	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AAAGGGTTCTCAAATGCATTG	0.418													19	36					0	0	0	0	G	39376143	C	G	39376143	3	3	250	1	0	0	0	0	1	0	0	0	4251	835	29	2	117	2	DAB2	5	39376143	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	12490340	39376143	141539117	69	44786											
MAST4	375449	broad.mit.edu	37	chr5	66429471	66429471	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctagagagttcctggataaAcaggtaagcttgggtgccat	11	10	13	7	0	0	1	0	0	0	1	1	3	1	2	2	3	3	4	2	3	4	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:66429471A>G	ENST00000404260.3	+	17	2540	c.2232A>G	c.(2230-2232)aaA>aaG	p.K744K	MAST4_ENST00000403666.1_Silent_p.K552K|MAST4_ENST00000405643.1_Silent_p.K562K|MAST4_ENST00000403625.2_Silent_p.K741K|MAST4_ENST00000261569.7_Silent_p.K547K			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	744	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCTGGATAAACAGGTAAGCT	0.408													21	37					0	0	0	0	G	66429471	A	G	66429471	2	3	250	1	0	0	0	0	0	0	0	1	9396	40	2	5		5	MAST4	5	66429471	Silent	SNP	A	TCGA-CV-6935-01A-11D-1912-08	27053328	66429471	114485789	70	44787											
GIN1	54826	broad.mit.edu	37	chr5	102423676	102423676	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcaagagaactatgatCgtctatcaatggagagattt	13	14	8	6	1	3	3	2	1	1	2	4	6	3	4	0	1	1	0	0	1	5	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:102423676C>A	ENST00000399004.2	-	8	1589	c.1495G>T	c.(1495-1497)Gat>Tat	p.D499Y	GIN1_ENST00000508629.1_3'UTR	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	499					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		GAACTATGATCGTCTATCAAT	0.318													33	53					3.80469e-20	5.66587e-20	1	0	A	102423676	C	A	102423676	3	1	250	1	0	0	0	0	1	0	0	0	6437	884	31	3	77	3	GIN1	5	102423676	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	35994205	102423676	78491584	71	44788											
APC	324	broad.mit.edu	37	chr5	112151205	112151205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttagggttcaactacacGaatggaccatgaaacagcca	14	10	8	9	1	1	1	1	1	0	0	1	3	1	2	2	2	4	1	2	2	5	5	rs149154604		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:112151205G>A	ENST00000457016.1	+	9	1228	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	APC_ENST00000257430.4_Missense_Mutation_p.R283Q|APC_ENST00000508376.2_Missense_Mutation_p.R283Q			P25054	APC_HUMAN	adenomatous polyposis coli	283	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAACTACACGAATGGACCAT	0.383		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			17	31					0	0	0	0	A	112151205	G	A	112151205	3	1	250	1	0	0	0	0	1	0	0	0	764	1058	37	1	878	1	APC	5	112151205	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	9727529	112151205	68764055	72	44789											
KCNN2	3781	broad.mit.edu	37	chr5	113831815	113831815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacaatgctgagcggtcccGgtcctcgtccaggaggcggc	6	8	14	13	4	0	1	0	1	0	0	4	2	3	2	3	5	3	1	3	5	2	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:113831815G>T	ENST00000512097.3	+	9	2694	c.1676G>T	c.(1675-1677)cGg>cTg	p.R559L	RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Missense_Mutation_p.R559L|KCNN2_ENST00000503706.1_Missense_Mutation_p.R211L			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	559						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GAGCGGTCCCGGTCCTCGTCC	0.512													31	74					2.08457e-15	2.91501e-15	1	0	T	113831815	G	T	113831815	3	4	250	1	0	0	0	0	1	0	0	0	8132	1116	39	3	1706	3	KCNN2	5	113831815	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	1680610	113831815	67083445	73	44790											
PCDHB15	56121	broad.mit.edu	37	chr5	140627413	140627413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtacgaggtgtgtctgaCgggaggctctgaaagtaatg	10	9	15	7	2	2	2	0	2	2	0	2	4	2	3	1	3	1	3	1	3	3	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:140627413C>A	ENST00000231173.3	+	1	2267	c.2267C>A	c.(2266-2268)aCg>aAg	p.T756K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		756					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTGTCTGACGGGAGGCTCT	0.517													71	120					4.98182e-18	7.26164e-18	1	0	A	140627413	C	A	140627413	3	1	250	1	0	0	0	0	1	0	0	0	11611	536	19	3	2269	3	PCDHB15	5	140627413	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	26795598	140627413	40287847	74	44791											
PCDHGA2	56113	broad.mit.edu	37	chr5	140718609	140718609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccttttggcgaccctgtGggaggccagggccgggcaga	5	8	16	12	2	0	1	0	0	0	1	1	3	1	2	4	5	0	1	4	5	0	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:140718609G>T	ENST00000394576.2	+	1	71	c.71G>T	c.(70-72)tGg>tTg	p.W24L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGACCCTGTGGGAGGCCAGG	0.577											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	42					1.67942e-08	2.12397e-08	1	0	T	140718609	G	T	140718609	3	4	250	1	0	0	0	0	1	0	0	0	11625	1357	47	4	73	4	PCDHGA2	5	140718609	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	91196	140718609	40196651	75	44792											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751081	140751081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatcaaaacacatgatCtagattctggatttaatgga	14	12	7	8	0	3	3	1	2	2	1	3	5	3	5	1	2	1	0	1	2	4	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:140751081C>A	ENST00000576222.1	+	1	1251	c.1120C>A	c.(1120-1122)Cta>Ata	p.L374I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACACATGATCTAGATTCTGG	0.423													7	24					0.00198382	0.00232912	1	0	A	140751081	C	A	140751081	3	1	250	1	0	0	0	0	1	0	0	0	11635	912	32	2	1122	2	PCDHGB3	5	140751081	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	32472	140751081	40164179	76	44793											
PCDHGA9	56107	broad.mit.edu	37	chr5	140784798	140784798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctcaggagttctccctcaCcgctgactcaaggaagagtc	9	10	9	13	1	4	2	3	1	2	1	7	4	4	4	2	2	0	2	2	2	2	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:140784798C>A	ENST00000573521.1	+	1	2279	c.2279C>A	c.(2278-2280)aCc>aAc	p.T760N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCCCTCACCGCTGACTCA	0.537													44	83					1.48734e-19	2.20126e-19	1	0	A	140784798	C	A	140784798	3	1	250	1	0	0	0	0	1	0	0	0	11632	507	18	4	2281	4	PCDHGA9	5	140784798	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	33717	140784798	40130462	77	44794											
PCDHGB7	56099	broad.mit.edu	37	chr5	140797510	140797510	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctttgttctaccccacGctgtgtgagccgatccgcta	5	12	9	15	3	1	1	0	1	1	0	2	2	2	1	5	0	3	3	5	0	2	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:140797510G>T	ENST00000398594.2	+	1	84	c.84G>T	c.(82-84)acG>acT	p.T28T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTACCCCACGCTGTGTGAGC	0.632											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	23					5.50884e-06	6.67268e-06	1	0	T	140797510	G	T	140797510	2	4	250	1	0	0	0	0	0	0	0	1	11639	1074	38	3		3	PCDHGB7	5	140797510	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	12712	140797510	40117750	78	44795											
PANK3	79646	broad.mit.edu	37	chr5	168006280	168006280	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggtttcttggcatctttGatcttcatggcgtcggcccg	4	14	12	11	3	4	1	1	1	3	0	5	1	4	1	1	4	0	2	1	4	0	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:168006280G>A	ENST00000239231.6	-	1	325	c.9C>T	c.(7-9)atC>atT	p.I3I		NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	3					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TGGCATCTTTGATCTTCATGG	0.706													6	9					0	0	0	0	A	168006280	G	A	168006280	2	1	250	1	0	0	0	0	0	0	0	1	11489	1280	45	2		2	PANK3	5	168006280	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	27208770	168006280	12908980	79	44796											
STK10	6793	broad.mit.edu	37	chr5	171488156	171488156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccacctcgaaggagctcCtgcttcttcatgaggcactc	7	9	8	17	1	2	1	1	1	1	0	5	3	3	2	4	2	2	3	4	2	1	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:171488156C>A	ENST00000176763.5	-	14	2542	c.2199G>T	c.(2197-2199)caG>caT	p.Q733H		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	733							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAGGAGCTCCTGCTTCTTCA	0.617													71	140					9.12251e-31	1.43952e-30	1	0	A	171488156	C	A	171488156	3	1	250	1	0	0	0	0	1	0	0	0	15376	680	24	4	731	4	STK10	5	171488156	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	3481876	171488156	9427104	80	44797											
ABT1	29777	broad.mit.edu	37	chr6	26597372	26597372	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacctgggccatatcccGccgcgcttccggcccctgca	4	8	11	18	4	0	0	0	0	0	0	2	0	2	0	7	2	2	3	7	2	2	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:26597372G>T	ENST00000274849.1	+	1	193	c.162G>T	c.(160-162)ccG>ccT	p.P54P		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	54	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GCCATATCCCGCCGCGCTTCC	0.612													16	28					2.32078e-09	2.97892e-09	1	0	T	26597372	G	T	26597372	2	4	250	1	0	0	0	0	0	0	0	1	101	1074	38	3		3	ABT1	6	26597372	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08		26597372	144517695	81	44798											
TRIM39	56658	broad.mit.edu	37	chr6	30297275	30297275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgctggtgggaggacctaGagagggacttcccttgtcct	6	9	14	12	1	0	1	0	0	0	1	2	5	2	4	4	4	0	1	4	4	1	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:30297275G>A	ENST00000376659.5	+	3	779	c.181G>A	c.(181-183)Gag>Aag	p.E61K	TRIM39_ENST00000396551.3_Missense_Mutation_p.E61K|TRIM39_ENST00000540416.1_Missense_Mutation_p.E61K|TRIM39_ENST00000396547.1_Missense_Mutation_p.E61K|TRIM39_ENST00000376656.4_Missense_Mutation_p.E61K|TRIM39_ENST00000396548.1_Missense_Mutation_p.E61K	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						GGAGGACCTAGAGAGGGACTT	0.542													48	83					0	0	0	0	A	30297275	G	A	30297275	3	1	250	1	0	0	0	0	1	0	0	0	16608	943	33	2	183	2	TRIM39	6	30297275	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	3699903	30297275	140817792	82	44799											
PBX2	5089	broad.mit.edu	37	chr6	32154610	32154610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggaagcagaataggaatCtccgttgagcccaggcatcc	11	7	12	11	1	1	2	0	1	1	1	3	4	2	4	3	3	2	3	3	3	4	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:32154610C>T	ENST00000375050.4	-	7	1363	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	365							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAATAGGAATCTCCGTTGAGC	0.512													30	55					0	0	0	0	T	32154610	C	T	32154610	3	4	250	1	0	0	0	0	1	0	0	0	11564	913	32	2	211	2	PBX2	6	32154610	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	1857335	32154610	138960457	83	44800											
APOBEC2	10930	broad.mit.edu	37	chr6	41029194	41029194	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccaagtgcaggcatctCggggatacctagaggatgag	10	6	17	8	1	1	2	0	1	1	1	2	4	1	4	2	6	2	2	2	6	3	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:41029194C>A	ENST00000244669.2	+	2	303	c.259C>A	c.(259-261)Cgg>Agg	p.R87R		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	87					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGGCATCTCGGGGATACCT	0.567													36	82					4.34311e-12	5.79081e-12	1	0	A	41029194	C	A	41029194	2	1	250	1	0	0	0	0	0	0	0	1	790	875	31	3		3	APOBEC2	6	41029194	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	8874584	41029194	130085873	84	44801											
HCRTR2	3062	broad.mit.edu	37	chr6	55113511	55113511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcaatctttctctggctGatgtgctcgtgaccatcacc	7	14	8	12	1	4	2	2	2	2	0	6	2	4	2	2	1	1	2	2	1	2	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:55113511G>T	ENST00000370862.3	+	2	634	c.298G>T	c.(298-300)Gat>Tat	p.D100Y		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	100					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTCTCTGGCTGATGTGCTCGT	0.453													56	102					6.4308e-24	9.78848e-24	1	0	T	55113511	G	T	55113511	3	4	250	1	0	0	0	0	1	0	0	0	7052	1290	45	2	304	2	HCRTR2	6	55113511	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	14084317	55113511	116001556	85	44802											
COL19A1	1310	broad.mit.edu	37	chr6	70856592	70856592	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctggtccacgtgggccAaaggtatacaaatattatag	13	9	10	9	1	0	0	0	0	0	0	1	0	1	0	3	3	1	2	3	3	7	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:70856592A>T	ENST00000322773.4	+	26	1914	c.1812A>T	c.(1810-1812)ccA>ccT	p.P604P	COL19A1_ENST00000393344.1_Silent_p.P226P	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	604	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CACGTGGGCCAAAGGTATACA	0.323													5	11					0	0	0	0	T	70856592	A	T	70856592	2	4	250	1	0	0	0	0	0	0	0	1	3706	117	5	5		5	COL19A1	6	70856592	Silent	SNP	A	TCGA-CV-6935-01A-11D-1912-08	15743081	70856592	100258475	86	44803											
SPACA1	81833	broad.mit.edu	37	chr6	88763681	88763681	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtttcaaataggaatgtcGtcaaagaagtagaattcgga	16	11	10	4	2	2	2	2	0	0	2	4	4	2	4	0	2	0	2	0	2	8	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:88763681G>C	ENST00000237201.1	+	2	343	c.226G>C	c.(226-228)Gtc>Ctc	p.V76L		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	76						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TAGGAATGTCGTCAAAGAAGT	0.348													8	20					0	0	0	0	C	88763681	G	C	88763681	3	2	250	1	0	0	0	0	1	0	0	0	15060	1145	40	3	232	3	SPACA1	6	88763681	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	17907089	88763681	82351386	87	44804											
ROS1	6098	broad.mit.edu	37	chr6	117683782	117683782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacctggaaggcaataaagCatctgggactcatgccttca	13	9	9	10	0	3	0	2	0	1	0	3	2	3	2	2	3	3	2	2	3	5	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:117683782C>A	ENST00000368508.3	-	21	3563	c.3365G>T	c.(3364-3366)tGc>tTc	p.C1122F	ROS1_ENST00000368507.3_Missense_Mutation_p.C1117F|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1122	Fibronectin type-III 5.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGCAATAAAGCATCTGGGACT	0.408			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								12	26					0.00010058	0.000119721	1	0	A	117683782	C	A	117683782	3	1	250	1	0	0	0	0	1	0	0	0	13616	710	25	4	3770	4	ROS1	6	117683782	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	28920101	117683782	53431285	88	44805											
ROS1	6098	broad.mit.edu	37	chr6	117709005	117709005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctctttggagaacttGctctcacagaaaccttgtat	9	13	8	11	0	2	2	1	0	2	2	3	3	2	2	2	2	3	2	2	2	3	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:117709005G>A	ENST00000368508.3	-	13	2150	c.1952C>T	c.(1951-1953)gCa>gTa	p.A651V	ROS1_ENST00000368507.3_Missense_Mutation_p.A646V|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	651	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGGAGAACTTGCTCTCACAGA	0.488			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								50	70					0	0	0	0	A	117709005	G	A	117709005	3	1	250	1	0	0	0	0	1	0	0	0	13616	1319	46	4	5215	4	ROS1	6	117709005	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	25223	117709005	53406062	89	44806											
THEMIS	387357	broad.mit.edu	37	chr6	128222065	128222065	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggacgaattcttccaGtgataatgccattgctatgc	10	12	11	8	1	1	1	0	1	1	0	2	4	2	3	2	2	3	1	2	2	3	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:128222065G>T	ENST00000368250.1	-	0	274				THEMIS_ENST00000537166.1_Intron|THEMIS_ENST00000543064.1_Missense_Mutation_p.L5M|THEMIS_ENST00000368248.2_Missense_Mutation_p.L5M			Q8N1K5	THMS1_HUMAN	thymocyte selection associated						negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AATTCTTCCAGTGATAATGCC	0.498													51	69					9.57592e-29	1.49733e-28	1	0	T	128222065	G	T	128222065	1	4	250	1	0	0	0	0	0	0	0	0	15954	1020	36	4		4	THEMIS	6	128222065	Translation_Start_Site	SNP	G	TCGA-CV-6935-01A-11D-1912-08	10513060	128222065	42893002	90	44807											
ENPP3	5169	broad.mit.edu	37	chr6	132061454	132061454	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccacacaccggaaaactgCcctgggtggctggatgtcct	9	7	12	13	1	0	0	0	0	0	0	1	2	1	2	4	4	3	1	4	4	2	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:132061454C>T	ENST00000414305.1	+	25	2719	c.2391C>T	c.(2389-2391)tgC>tgT	p.C797C	ENPP3_ENST00000357639.3_Silent_p.C797C|ENPP3_ENST00000358229.5_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	797	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CGGAAAACTGCCCTGGGTGGC	0.512													31	50					0	0	0	0	T	132061454	C	T	132061454	2	4	250	1	0	0	0	0	0	0	0	1	5169	747	26	4		4	ENPP3	6	132061454	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	3839389	132061454	39053613	91	44808											
KIAA1244	57221	broad.mit.edu	37	chr6	138601217	138601217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgaggagctctaccatcagGtgctcgacaggaacatgctt	10	10	11	10	1	2	1	1	1	1	0	3	4	2	3	1	3	5	3	1	3	2	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:138601217G>A	ENST00000251691.4	+	14	2543	c.2377G>A	c.(2377-2379)Gtg>Atg	p.V793M		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	793	SEC7.				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)		CTACCATCAGGTGCTCGACAG	0.552													28	29					0	0	0	0	A	138601217	G	A	138601217	3	1	250	1	0	0	0	0	1	0	0	0	8268	1261	44	4	2431	4	KIAA1244	6	138601217	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	6539763	138601217	32513850	92	44809											
PDE10A	10846	broad.mit.edu	37	chr6	165957010	165957010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacaaattcatctaatacCtgggggtgaagagaaagata	17	9	10	5	0	2	3	1	1	1	2	2	5	2	3	1	2	2	0	1	2	7	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:165957010C>A	ENST00000366882.1	-	3	238	c.84G>T	c.(82-84)caG>caT	p.Q28H	PDE10A_ENST00000539869.2_Missense_Mutation_p.Q38H|PDE10A_ENST00000354448.4_Missense_Mutation_p.Q28H			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	28					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.Q28fs*5(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CATCTAATACCTGGGGGTGAA	0.358													18	28					5.03518e-11	6.61108e-11	1	0	A	165957010	C	A	165957010	3	1	250	1	0	0	0	0	1	0	0	0	11701	680	24	4	2339	4	PDE10A	6	165957010	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	27355793	165957010	5158057	93	44810											
STK31	56164	broad.mit.edu	37	chr7	23827673	23827673	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacataattcatggatcActtcatcagaacaatgtatt	14	13	6	8	0	4	2	4	1	0	1	4	3	4	3	0	1	1	2	0	1	4	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:23827673A>G	ENST00000354639.3	+	21	2957	c.2493A>G	c.(2491-2493)tcA>tcG	p.S831S	STK31_ENST00000428484.1_Silent_p.S831S|STK31_ENST00000433467.2_Silent_p.S854S|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Silent_p.S854S	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	854	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCATGGATCACTTCATCAGA	0.353													33	93					0	0	0	0	G	23827673	A	G	23827673	2	3	250	1	0	0	0	0	0	0	0	1	15386	146	6	5		5	STK31	7	23827673	Silent	SNP	A	TCGA-CV-6935-01A-11D-1912-08		23827673	135310990	94	44811											
STK31	56164	broad.mit.edu	37	chr7	23871841	23871841	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttaaatgctgaatgtttCttgatgccaaaggagcaatc	12	14	9	6	0	1	2	0	2	1	0	2	3	1	3	1	1	3	4	1	1	5	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:23871841C>T	ENST00000354639.3	+	24	3311	c.2847C>T	c.(2845-2847)ttC>ttT	p.F949F	STK31_ENST00000428484.1_Silent_p.F949F|STK31_ENST00000433467.2_Silent_p.F949F|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Silent_p.F972F	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	972	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGAATGTTTCTTGATGCCAA	0.353													68	60					0	0	0	0	T	23871841	C	T	23871841	2	4	250	1	0	0	0	0	0	0	0	1	15386	912	32	2		2	STK31	7	23871841	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	44168	23871841	135266822	95	44812											
INHBA	3624	broad.mit.edu	37	chr7	41739824	41739824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaccatctctggctgaGagttgggtacatcctttggg	6	12	11	12	0	1	1	0	1	1	1	4	2	3	1	4	3	1	3	4	3	1	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:41739824G>T	ENST00000242208.4	-	2	395	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S50Y|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000422822.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	50					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.S50Y(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTCTGGCTGAGAGTTGGGTAC	0.612										TSP Lung(11;0.080)			187	256					7.59282e-81	1.25574e-80	1	0	T	41739824	G	T	41739824	3	4	250	1	0	0	0	0	1	0	0	0	7794	942	33	2	1139	2	INHBA	7	41739824	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	17867983	41739824	117398839	96	44813											
ZNF716	441234	broad.mit.edu	37	chr7	57529071	57529071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacacatgtgaagaatgtGgcaaagcctttagccgctct	11	10	9	11	1	1	2	0	1	1	1	1	2	1	2	3	1	3	2	3	1	5	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:57529071G>T	ENST00000420713.1	+	4	1016	c.904G>T	c.(904-906)Ggc>Tgc	p.G302C		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGAAGAATGTGGCAAAGCCTT	0.418													8	16					0.00307968	0.00359122	1	0	T	57529071	G	T	57529071	3	4	250	1	0	0	0	0	1	0	0	0	18214	1348	47	4	918	4	ZNF716	7	57529071	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	15789247	57529071	101609592	97	44814											
WBSCR17	64409	broad.mit.edu	37	chr7	71142291	71142291	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccatggctggggaccacaGgtaggagctcgtctctgacc	7	8	14	12	1	1	1	0	1	1	0	3	3	1	3	3	5	2	3	3	5	1	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:71142291G>T	ENST00000333538.5	+	9	2134	c.1500_splice	c.e9+1	p.Q500_splice	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	500	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGGACCACAGGTAGGAGCTC	0.537													61	111					1.03172e-35	1.66626e-35	1	0	T	71142291	G	T	71142291	5	4	250	1	0	0	0	0	0	0	1	0	17360	1014	35	4	1534	4	WBSCR17	7	71142291	Splice_Site	SNP	G	TCGA-CV-6935-01A-11D-1912-08	13613220	71142291	87996372	98	44815											
PCLO	27445	broad.mit.edu	37	chr7	82582174	82582174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagagcaagaggctctggagGaattgttatggaaatgctgc	12	10	14	5	0	1	2	0	0	1	2	1	5	1	5	0	4	3	4	0	4	5	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:82582174G>T	ENST00000423517.2	-	5	8432	c.8095C>A	c.(8095-8097)Cct>Act	p.P2699T	PCLO_ENST00000333891.8_Missense_Mutation_p.P2699T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2630					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTCTGGAGGAATTGTTATG	0.403													18	47					3.32936e-07	4.11978e-07	1	0	T	82582174	G	T	82582174	3	4	250	1	0	0	0	0	1	0	0	0	11654	1174	41	2	7434	2	PCLO	7	82582174	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	11439883	82582174	76556489	99	44816											
ZNF804B	219578	broad.mit.edu	37	chr7	88847532	88847532	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggcaaacttttactgtGaattatgtgacaagcagtat	15	13	8	5	0	0	2	0	2	0	0	0	2	0	2	0	1	3	3	0	1	8	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:88847532G>T	ENST00000333190.4	+	2	781	c.172G>T	c.(172-174)Gaa>Taa	p.E58*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	58						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTTTTACTGTGAATTATGTGA	0.368										HNSCC(36;0.09)			26	29					1.1804e-14	1.64395e-14	1	0	T	88847532	G	T	88847532	4	4	250	1	0	0	0	0	0	1	0	0	18264	1291	45	2	178	2	ZNF804B	7	88847532	Nonsense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	6265358	88847532	70291131	100	44817											
CCDC132	55610	broad.mit.edu	37	chr7	92887685	92887685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaaagaacagatgtacGgttaagtgaaatgctggagg	15	8	13	5	1	1	3	1	1	0	2	1	4	1	4	0	3	4	4	0	3	5	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:92887685G>T	ENST00000544910.1	+	9	687	c.467G>T	c.(466-468)cGg>cTg	p.R156L	CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.R186L|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.R186L	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	186										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACAGATGTACGGTTAAGTGAA	0.299													20	52					3.5997e-14	4.97308e-14	1	0	T	92887685	G	T	92887685	3	4	250	1	0	0	0	0	1	0	0	0	2792	1116	39	3	587	3	CCDC132	7	92887685	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	4040153	92887685	66250978	101	44818											
PPP1R9A	55607	broad.mit.edu	37	chr7	94791279	94791279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaacaccaagggcaacGtcaggtaaatacgtgccttc	14	7	9	11	2	2	1	2	0	0	1	3	1	2	1	2	2	4	2	2	2	6	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:94791279G>A	ENST00000289495.5	+	4	1966	c.1750G>A	c.(1750-1752)Gtc>Atc	p.V584I	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.V584I|AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.V584I|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.V584I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.V584I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	584	PDZ.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAGGGCAACGTCAGGTAAAT	0.363										HNSCC(28;0.073)			5	3					0	0	0	0	A	94791279	G	A	94791279	3	1	250	1	0	0	0	0	1	0	0	0	12454	1145	40	1	1764	1	PPP1R9A	7	94791279	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	1903594	94791279	64347384	102	44819											
TRRAP	8295	broad.mit.edu	37	chr7	98581764	98581764	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagcatgatcccagttcaaAtaacgctatgcttggggttc	10	12	9	10	1	2	1	2	1	0	0	4	1	3	1	1	2	3	5	1	2	3	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:98581764A>G	ENST00000359863.4	+	60	9292	c.9083A>G	c.(9082-9084)aAt>aGt	p.N3028S	TRRAP_ENST00000355540.3_Missense_Mutation_p.N2999S|TRRAP_ENST00000446306.3_Missense_Mutation_p.N2999S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3028	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCAGTTCAAATAACGCTATG	0.448													43	62					0	0	0	0	G	98581764	A	G	98581764	3	3	250	1	0	0	0	0	1	0	0	0	16696	101	4	5	9226	5	TRRAP	7	98581764	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	3790485	98581764	60556899	103	44820											
MET	4233	broad.mit.edu	37	chr7	116339752	116339752	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caataccataaattcttcttAtttcccagatcatccattgc	12	15	2	12	0	3	1	1	0	2	1	5	1	5	1	3	0	2	0	3	0	5	7			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:116339752A>G	ENST00000397752.3	+	2	814	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	MET_ENST00000436117.2_Missense_Mutation_p.Y205C|MET_ENST00000318493.6_Missense_Mutation_p.Y205C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	205	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AATTCTTCTTATTTCCCAGAT	0.418			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				67	89					0	0	0	0	G	116339752	A	G	116339752	3	3	250	1	0	0	0	0	1	0	0	0	9554	449	16	5	616	5	MET	7	116339752	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	17757988	116339752	42798911	104	44821											
GRM8	2918	broad.mit.edu	37	chr7	126544151	126544151	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagaaaatgcccactttggTttagtttttttgctgcttcc	8	17	8	8	0	0	1	0	0	0	1	1	2	1	1	2	1	3	4	2	1	3	7			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:126544151T>C	ENST00000339582.2	-	5	1701	c.893A>G	c.(892-894)aAc>aGc	p.N298S	GRM8_ENST00000358373.3_Missense_Mutation_p.N298S|GRM8_ENST00000444921.2_Missense_Mutation_p.N298S|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.N298S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	298					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCCACTTTGGTTTAGTTTTTT	0.368										HNSCC(24;0.065)			42	60					0	0	0	0	C	126544151	T	C	126544151	3	2	250	1	0	0	0	0	1	0	0	0	6853	1725	60	5	1911	5	GRM8	7	126544151	Missense_Mutation	SNP	T	TCGA-CV-6935-01A-11D-1912-08	10204399	126544151	32594512	105	44822											
PRSS37	136242	broad.mit.edu	37	chr7	141536336	141536336	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtagcaacggccacctcCtaccggagatcatgcagaga	13	5	10	13	2	1	2	1	0	0	2	2	4	2	2	4	2	4	3	4	2	3	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:141536336C>A	ENST00000350549.3	-	5	939		c.e5-1		PRSS37_ENST00000438520.1_Splice_Site	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37						proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CGGCCACCTCCTACCGGAGAT	0.547													12	4					6.40141e-05	7.67277e-05	1	0	A	141536336	C	A	141536336	5	1	250	1	0	0	0	0	0	0	1	0	12705	695	24	4	144	4	PRSS37	7	141536336	Splice_Site	SNP	C	TCGA-CV-6935-01A-11D-1912-08	14992185	141536336	17602327	106	44823											
MGAM	8972	broad.mit.edu	37	chr7	141755884	141755884	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagtgctcctgctgaacAgcaatgccatgggtaaggcc	10	8	13	10	0	0	1	0	1	0	0	1	2	1	2	3	3	5	4	3	3	3	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:141755884A>C	ENST00000475668.2	+	29	3622	c.3568A>C	c.(3568-3570)Agc>Cgc	p.S1190R	MGAM_ENST00000549489.2_Missense_Mutation_p.S1190R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1190	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTGCTGAACAGCAATGCCAT	0.512													8	3					0	0	0	0	C	141755884	A	C	141755884	3	2	250	1	0	0	0	0	1	0	0	0	9610	188	7	5	3678	5	MGAM	7	141755884	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	219548	141755884	17382779	107	44824											
GALNTL5	168391	broad.mit.edu	37	chr7	151699803	151699803	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgcctccccaggggaTgttctggtgttcctggacag	4	13	13	11	0	2	0	0	0	2	0	4	2	4	2	4	4	1	3	4	4	0	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:151699803T>A	ENST00000392800.2	+	6	917	c.663T>A	c.(661-663)gaT>gaA	p.D221E	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.D221E	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	221	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CCCCAGGGGATGTTCTGGTGT	0.498													25	12					0	0	0	0	A	151699803	T	A	151699803	3	1	250	1	0	0	0	0	1	0	0	0	6273	1461	51	5	681	5	GALNTL5	7	151699803	Missense_Mutation	SNP	T	TCGA-CV-6935-01A-11D-1912-08	9943919	151699803	7438860	108	44825											
MSC	9242	broad.mit.edu	37	chr8	72754902	72754902	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttccagtccgatttaagcGgtggttccacatagtctgtt	8	14	10	9	2	1	0	0	0	1	0	4	1	4	0	3	2	1	3	3	2	2	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:72754902G>T	ENST00000325509.4	-	2	904	c.615C>A	c.(613-615)acC>acA	p.T205T	MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	205					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CGATTTAAGCGGTGGTTCCAC	0.493													200	317					3.50731e-122	5.88544e-122	1	0	T	72754902	G	T	72754902	2	4	250	1	0	0	0	0	0	0	0	1	9938	1103	39	3		3	MSC	8	72754902	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08		72754902	73609120	109	44826											
PSKH2	85481	broad.mit.edu	37	chr8	87060915	87060915	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatggtccagggcctggcCagctgacatgcgatgaccag	8	6	16	11	1	0	2	0	2	0	0	1	4	1	3	4	4	2	1	4	4	0	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:87060915C>G	ENST00000276616.2	-	3	1008	c.934G>C	c.(934-936)Ggc>Cgc	p.G312R		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	312	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AGGGCCTGGCCAGCTGACATG	0.512													36	49					0	0	0	0	G	87060915	C	G	87060915	3	3	250	1	0	0	0	0	1	0	0	0	12744	594	21	4	225	4	PSKH2	8	87060915	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	14306013	87060915	59303107	110	44827											
CDH17	1015	broad.mit.edu	37	chr8	95174380	95174380	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgatttgcacaaaacaaagGgtcttgaaatctgaaaacca	17	10	7	7	0	2	3	0	3	2	0	2	3	2	3	1	1	3	1	1	1	6	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:95174380G>T	ENST00000027335.3	-	11	1417	c.1293C>A	c.(1291-1293)acC>acA	p.T431T	CDH17_ENST00000450165.2_Silent_p.T431T|CDH17_ENST00000441892.2_Silent_p.T217T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	431	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAAAACAAAGGGTCTTGAAAT	0.313													13	30					6.72482e-11	8.79597e-11	1	0	T	95174380	G	T	95174380	2	4	250	1	0	0	0	0	0	0	0	1	3131	1219	43	4		4	CDH17	8	95174380	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	8113465	95174380	51189642	111	44828											
RIMS2	9699	broad.mit.edu	37	chr8	105235910	105235910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggcttggggggtgccagcGctgcggggcgctccatgcag	4	6	20	11	3	0	0	0	0	0	0	1	0	1	0	2	6	4	4	2	6	0	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:105235910G>T	ENST00000339750.2	+	1	31	c.31G>T	c.(31-33)Gct>Tct	p.A11S	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000436393.2_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1247					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGGTGCCAGCGCTGCGGGGCG	0.687										HNSCC(12;0.0054)			8	16					1.12685e-05	1.35537e-05	1	0	T	105235910	G	T	105235910	3	4	250	1	0	0	0	0	1	0	0	0	13453	1102	38	3		3	RIMS2	8	105235910	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	10061530	105235910	41128112	112	44829											
PKHD1L1	93035	broad.mit.edu	37	chr8	110451290	110451290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaacatgatatctatgtaGaagtcagaaactggggtttt	15	12	10	4	0	2	3	1	1	1	2	2	4	2	3	0	2	2	2	0	2	7	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:110451290G>A	ENST00000378402.5	+	32	4029	c.3925G>A	c.(3925-3927)Gaa>Aaa	p.E1309K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1309	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATCTATGTAGAAGTCAGAAA	0.398										HNSCC(38;0.096)			64	106					0	0	0	0	A	110451290	G	A	110451290	3	1	250	1	0	0	0	0	1	0	0	0	12044	943	33	2	4051	2	PKHD1L1	8	110451290	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	5215380	110451290	35912732	113	44830											
PKHD1L1	93035	broad.mit.edu	37	chr8	110476802	110476802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgttgctggtggcactCactttggcttttggtaccgg	4	15	13	9	1	1	0	1	0	0	0	1	0	1	0	1	5	3	6	1	5	1	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:110476802C>A	ENST00000378402.5	+	49	7845	c.7741C>A	c.(7741-7743)Cac>Aac	p.H2581N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2581					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGTGGCACTCACTTTGGCTT	0.463										HNSCC(38;0.096)			24	35					2.21704e-12	2.97914e-12	1	0	A	110476802	C	A	110476802	3	1	250	1	0	0	0	0	1	0	0	0	12044	826	29	2	7935	2	PKHD1L1	8	110476802	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	25512	110476802	35887220	114	44831											
CSMD3	114788	broad.mit.edu	37	chr8	113246662	113246662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcaggtactttaataaGatatatgcgtaacattaggc	15	12	9	5	1	0	2	0	1	0	1	0	2	0	2	0	2	4	3	0	2	7	8			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:113246662G>T	ENST00000297405.5	-	68	10916	c.10672C>A	c.(10672-10674)Ctt>Att	p.L3558I	CSMD3_ENST00000455883.2_Missense_Mutation_p.L3389I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3488I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3518I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3558						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTTTAATAAGATATATGCGT	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			50	95					1.4374e-25	2.20743e-25	1	0	T	113246662	G	T	113246662	3	4	250	1	0	0	0	0	1	0	0	0	3978	942	33	2	467	2	CSMD3	8	113246662	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	2769860	113246662	33117360	115	44832											
CSMD3	114788	broad.mit.edu	37	chr8	113697930	113697930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagaaagaactgttccCattggtgcagtaaagttaga	14	10	11	6	0	1	3	1	0	0	3	2	4	2	3	1	2	2	4	1	2	5	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:113697930C>A	ENST00000297405.5	-	15	2431	c.2187G>T	c.(2185-2187)atG>atT	p.M729I	CSMD3_ENST00000455883.2_Missense_Mutation_p.M625I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M729I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M689I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	729	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAACTGTTCCCATTGGTGCAG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	64					1.74197e-06	2.12496e-06	1	0	A	113697930	C	A	113697930	3	1	250	1	0	0	0	0	1	0	0	0	3978	594	21	4	9164	4	CSMD3	8	113697930	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	451268	113697930	32666092	116	44833											
ZHX2	22882	broad.mit.edu	37	chr8	123965602	123965602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcgactcgaccagctcTccggtgcccagttaacaagt	8	10	9	14	3	2	0	0	0	2	0	5	2	2	0	3	1	3	2	3	1	2	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:123965602T>C	ENST00000314393.4	+	3	2687	c.1852T>C	c.(1852-1854)Tcc>Ccc	p.S618P		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	618						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGACCAGCTCTCCGGTGCCCA	0.532													25	52					0	0	0	0	C	123965602	T	C	123965602	3	2	250	1	0	0	0	0	1	0	0	0	17771	1551	54	5	1854	5	ZHX2	8	123965602	Missense_Mutation	SNP	T	TCGA-CV-6935-01A-11D-1912-08	10267672	123965602	22398420	117	44834											
FAM135B	51059	broad.mit.edu	37	chr8	139151251	139151251	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttttttggcttagttggtaGaggaaacatttgcgcaaatc	10	15	11	5	1	0	1	0	0	0	1	1	2	0	2	0	3	2	5	0	3	4	7			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:139151251G>C	ENST00000395297.1	-	18	4049	c.3879C>G	c.(3877-3879)ctC>ctG	p.L1293L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1293										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTAGTTGGTAGAGGAAACATT	0.448										HNSCC(54;0.14)			12	127					0	0	0	0	C	139151251	G	C	139151251	2	2	250	1	0	0	0	0	0	0	0	1	5490	929	33	2		2	FAM135B	8	139151251	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	15185649	139151251	7212771	118	44835											
FAM135B	51059	broad.mit.edu	37	chr8	139165165	139165165	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagatgtttggccagtccaaCattcatcttcaggcacacct	10	11	7	13	0	3	1	2	0	1	1	4	1	4	1	3	2	1	2	3	2	1	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:139165165C>A	ENST00000395297.1	-	13	1723	c.1553G>T	c.(1552-1554)tGt>tTt	p.C518F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	518								p.C518F(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCCAGTCCAACATTCATCTTC	0.463										HNSCC(54;0.14)			41	165					2.24893e-16	3.19683e-16	1	0	A	139165165	C	A	139165165	3	1	250	1	0	0	0	0	1	0	0	0	5490	478	17	4	2699	4	FAM135B	8	139165165	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	13914	139165165	7198857	119	44836											
CYP11B2	1585	broad.mit.edu	37	chr8	143994844	143994844	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccgagccagctcaaagagCgtcatcagcaagggaaacgc	13	5	11	12	3	3	1	3	0	0	1	4	3	4	2	2	1	5	2	2	1	3	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:143994844C>A	ENST00000323110.2	-	6	980	c.978G>T	c.(976-978)acG>acT	p.T326T		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	326					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTCAAAGAGCGTCATCAGCA	0.622									Familial Hyperaldosteronism type I				27	151					3.73148e-12	4.99466e-12	1	0	A	143994844	C	A	143994844	2	1	250	1	0	0	0	0	0	0	0	1	4178	755	27	3		3	CYP11B2	8	143994844	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	4829679	143994844	2369178	120	44837											
NAPRT1	93100	broad.mit.edu	37	chr8	144658323	144658323	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactgactccagccagggCacctggaacctgccgcgtgg	8	5	14	14	2	0	1	0	1	0	0	1	3	1	3	5	4	3	1	5	4	1	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:144658323C>A	ENST00000449291.2	-	8	1326	c.1032G>T	c.(1030-1032)gtG>gtT	p.V344V	NAPRT1_ENST00000426292.3_Silent_p.V344V|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000435154.3_Silent_p.V344V|NAPRT1_ENST00000276844.7_Silent_p.V344V			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	344					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCAGCCAGGGCACCTGGAACC	0.667													20	34					7.41877e-09	9.45207e-09	1	0	A	144658323	C	A	144658323	2	1	250	1	0	0	0	0	0	0	0	1	10235	697	25	4		4	NAPRT1	8	144658323	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	663479	144658323	1705699	121	44838											
PLEC	5339	broad.mit.edu	37	chr8	145016653	145016653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccagcaagacctccctcgGcgaggcaaaggcgccccccg	8	3	11	19	4	0	1	0	0	0	1	3	2	2	1	6	3	1	2	6	3	2	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:145016653G>T	ENST00000357649.2	-	1	39	c.31C>A	c.(31-33)Ccg>Acg	p.P11T	PLEC_ENST00000322810.4_Intron|PLEC_ENST00000354589.3_Intron|PLEC_ENST00000398774.2_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron	NM_201383.1	NP_958785.1	Q15149	PLEC_HUMAN	plectin	0	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACCTCCCTCGGCGAGGCAAAG	0.756													23	13					4.54149e-19	6.70503e-19	1	0	T	145016653	G	T	145016653	3	4	250	1	0	0	0	0	1	0	0	0	12124	1203	42	4	13868	4	PLEC	8	145016653	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	358330	145016653	1347369	122	44839											
DENND4C	55667	broad.mit.edu	37	chr9	19316463	19316463	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaacttcccaaaaagccGtgcaaaaatctacttagcac	17	7	5	12	1	1	0	0	0	1	0	2	0	2	0	2	0	6	3	2	0	8	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:19316463G>T	ENST00000380432.2	+	7	861	c.828G>T	c.(826-828)ccG>ccT	p.P276P	DENND4C_ENST00000434457.2_Silent_p.P512P|DENND4C_ENST00000602925.1_Silent_p.P512P|DENND4C_ENST00000307015.9_5'UTR	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	276						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCAAAAAGCCGTGCAAAAATC	0.328													11	2					7.03913e-09	9.00171e-09	1	0	T	19316463	G	T	19316463	2	4	250	1	0	0	0	0	0	0	0	1	4472	1132	40	3		3	DENND4C	9	19316463	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08		19316463	121896968	123	44840											
PGM5	5239	broad.mit.edu	37	chr9	71098829	71098829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgacatattatatcatgagGgacctggaggccctggtcac	11	9	11	10	1	2	1	2	1	0	0	2	4	2	3	2	4	0	0	2	4	3	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:71098829G>T	ENST00000396396.1	+	9	1573	c.1344G>T	c.(1342-1344)agG>agT	p.R448S		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	448					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATATCATGAGGGACCTGGAGG	0.507													29	57					7.38237e-10	9.51137e-10	1	0	T	71098829	G	T	71098829	3	4	250	1	0	0	0	0	1	0	0	0	11873	1223	43	4	1378	4	PGM5	9	71098829	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	51782366	71098829	70114602	124	44841											
IARS	3376	broad.mit.edu	37	chr9	95009669	95009669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacacctaccagtcttctgGaactgctccagctcctcact	9	10	6	16	0	3	1	1	0	2	1	5	2	5	2	4	1	4	2	4	1	2	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:95009669G>T	ENST00000375643.3	-	26	3047	c.2781C>A	c.(2779-2781)ttC>ttA	p.F927L	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.F817L|IARS_ENST00000443024.2_Missense_Mutation_p.F927L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	927					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CAGTCTTCTGGAACTGCTCCA	0.483													24	53					2.24059e-21	3.36578e-21	1	0	T	95009669	G	T	95009669	3	4	250	1	0	0	0	0	1	0	0	0	7526	1165	41	2	1043	2	IARS	9	95009669	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	23910840	95009669	46203762	125	44842											
BAAT	570	broad.mit.edu	37	chr9	104133542	104133542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaattcattggccctatagtGggcttgagaataaaacatgt	13	12	10	6	0	1	1	1	1	0	1	1	3	1	1	1	2	1	1	1	2	6	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:104133542G>A	ENST00000259407.2	-	2	253	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	BAAT_ENST00000395051.3_Missense_Mutation_p.H49Y	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	49					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GCCCTATAGTGGGCTTGAGAA	0.488													33	68					0	0	0	0	A	104133542	G	A	104133542	3	1	250	1	0	0	0	0	1	0	0	0	1284	1348	47	4	1123	4	BAAT	9	104133542	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	9123873	104133542	37079889	126	44843											
OR1N2	138882	broad.mit.edu	37	chr9	125315511	125315511	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgggaaaaccaggcagagtGaaccaaaccactgtttcaga	16	6	10	9	0	1	3	1	1	0	2	1	4	1	4	3	2	3	2	3	2	4	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:125315511G>C	ENST00000373688.2	+	1	121	c.63G>C	c.(61-63)gtG>gtC	p.V21V		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CAGGCAGAGTGAACCAAACCA	0.448													39	59					0	0	0	0	C	125315511	G	C	125315511	2	2	250	1	0	0	0	0	0	0	0	1	11041	1277	45	2		2	OR1N2	9	125315511	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	21181969	125315511	15897920	127	44844											
SETX	23064	broad.mit.edu	37	chr9	135203353	135203376	+	In_Frame_Del	DEL	CGTGAATTGGGAGTTGAAGTCCTT	CGTGAATTGGGAGTTGAAGTCCTT	-																															ccgtagtggctctctgaataCgtgaattgggagttgaagtc																										TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:135203353_135203376delCGTGAATTGGGAGTTGAAGTCCTT	ENST00000372169.2	-	10	3791_3814	c.3609_3632delAAGGACTTCAACTCCCAATTCACG	c.(3607-3633)agt>ag	p.RRTSTPNSR1203del	SETX_ENST00000393220.1_In_Frame_Del_p.RRTSTPNSR1203del|SETX_ENST00000224140.5_In_Frame_Del_p.RRTSTPNSR1203del			Q7Z333	SETX_HUMAN	senataxin	1203					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTCTGAATACGTGAATTGGGAGTTGAAGTCCTTCTATCAATAC	0.402													16	70	---	---	---	---					-	135203376	CGTGAATTGGGAGTTGAAGTCCTT	-	135203353	7	5	250	1	0	1	0	1	0	0	0	0	14228	536	19	0	4469	0	SETX	9	135203353	In_Frame_Del	DEL	CGTGAATTGGGAGTTGAAGTCCTT	TCGA-CV-6935-01A-11D-1912-08	9887842	135203353	6010078	128	44845											
SDCCAG3	10807	broad.mit.edu	37	chr9	139301763	139301763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggccctgccagctccgacGgggtggagaaaaaggaaagg	12	3	16	10	2	0	1	0	0	0	1	1	4	1	2	3	6	2	1	3	6	3	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:139301763G>A	ENST00000298537.7	-	4	795	c.584C>T	c.(583-585)cCg>cTg	p.P195L	SDCCAG3_ENST00000357365.3_Missense_Mutation_p.P218L|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.P145L	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	218						cytoplasm		p.P218L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CAGCTCCGACGGGGTGGAGAA	0.657													11	8					0	0	0	0	A	139301763	G	A	139301763	3	1	250	1	0	0	0	0	1	0	0	0	14045	1116	39	1	678	1	SDCCAG3	9	139301763	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	4098410	139301763	1911668	129	44846											
MAMDC4	158056	broad.mit.edu	37	chr9	139754408	139754408	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctattgctcatgctcctggtGctgctgggacttgggggacg	4	12	15	10	1	1	0	1	0	0	0	2	2	2	2	1	4	4	4	1	4	1	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:139754408G>A	ENST00000445819.1	+	28	3551	c.3501G>A	c.(3499-3501)gtG>gtA	p.V1167V	MAMDC4_ENST00000317446.2_Silent_p.V1088V|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	1167					protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGCTCCTGGTGCTGCTGGGAC	0.627													24	29					0	0	0	0	A	139754408	G	A	139754408	2	1	250	1	0	0	0	0	0	0	0	1	9273	1306	46	4		4	MAMDC4	9	139754408	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	452645	139754408	1459023	130	44847											
FAM188A	80013	broad.mit.edu	37	chr10	15828592	15828592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaattcttgaagaaatgggcCcaataatatgattcctaatc	16	12	6	7	0	1	3	0	2	1	1	3	3	2	3	2	1	0	0	2	1	7	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:15828592C>A	ENST00000378036.1	-	4	1375	c.199G>T	c.(199-201)Ggc>Tgc	p.G67C	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000277632.3_Missense_Mutation_p.G362C			Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	362					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						AGAAATGGGCCCAATAATATG	0.338													38	77					6.97489e-18	1.00813e-17	1	0	A	15828592	C	A	15828592	3	1	250	1	0	0	0	0	1	0	0	0	5556	623	22	4	265	4	FAM188A	10	15828592	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08		15828592	119706155	131	44848											
KIAA1217	56243	broad.mit.edu	37	chr10	24727394	24727394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacacaccaaaaactatgAatggagacatgagggtaagt	18	7	9	7	0	1	3	1	2	0	1	1	4	1	3	1	2	1	1	1	2	5	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:24727394A>G	ENST00000376454.3	+	5	862	c.832A>G	c.(832-834)Aat>Gat	p.N278D	KIAA1217_ENST00000376462.1_Missense_Mutation_p.N198D|KIAA1217_ENST00000430453.2_Missense_Mutation_p.N199D|KIAA1217_ENST00000376452.3_Missense_Mutation_p.N278D|KIAA1217_ENST00000458595.1_Missense_Mutation_p.N278D	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	278					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAAACTATGAATGGAGACAT	0.403													43	56					0	0	0	0	G	24727394	A	G	24727394	3	3	250	1	0	0	0	0	1	0	0	0	8267	246	9	5	850	5	KIAA1217	10	24727394	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	8898802	24727394	110807353	132	44849											
OGDHL	55753	broad.mit.edu	37	chr10	50945898	50945898	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagagatttaggtgtgaagaTaatcagctggaagggaaata	16	9	13	3	0	1	3	1	1	0	2	1	6	1	5	0	3	1	1	0	3	6	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:50945898T>A	ENST00000374103.4	-	20	2609	c.2524A>T	c.(2524-2526)Atc>Ttc	p.I842F	OGDHL_ENST00000432695.1_Missense_Mutation_p.I633F|OGDHL_ENST00000419399.1_Missense_Mutation_p.I785F|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	842					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTGTGAAGATAATCAGCTGG	0.617													33	50					0	0	0	0	A	50945898	T	A	50945898	3	1	250	1	0	0	0	0	1	0	0	0	10911	1406	49	5	524	5	OGDHL	10	50945898	Missense_Mutation	SNP	T	TCGA-CV-6935-01A-11D-1912-08	26218504	50945898	84588849	133	44850											
PCDH15	65217	broad.mit.edu	37	chr10	56106133	56106133	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttacataccggatcatCtggattatactgaataacat	14	14	6	7	1	2	1	1	1	1	0	2	3	2	3	1	2	4	1	1	2	7	7			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:56106133C>A	ENST00000373965.2	-	6	980	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	PCDH15_ENST00000395433.1_Missense_Mutation_p.D174Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D196Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D201Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000373957.3_Missense_Mutation_p.D174Y|PCDH15_ENST00000395442.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.D196Y|PCDH15_ENST00000395440.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D196Y	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	196	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D196Y(2)|p.D201Y(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCGGATCATCTGGATTATAC	0.308										HNSCC(58;0.16)			26	59					1.66031e-10	2.16343e-10	1	0	A	56106133	C	A	56106133	3	1	250	1	0	0	0	0	1	0	0	0	11582	913	32	2	7037	2	PCDH15	10	56106133	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	5160235	56106133	79428614	134	44851											
GLUD1	2746	broad.mit.edu	37	chr10	88836358	88836358	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgcacacttgtatgtcatCagagaagccaaagcttttac	13	11	7	10	0	2	1	2	0	0	1	2	2	2	1	1	0	4	3	1	0	4	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:88836358C>T	ENST00000277865.4	-	2	597	c.501G>A	c.(499-501)ctG>ctA	p.L167L	GLUD1_ENST00000537649.1_5'UTR|GLUD1_ENST00000544149.1_Silent_p.L34L	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	167					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGTATGTCATCAGAGAAGCCA	0.413													25	36					0	0	0	0	T	88836358	C	T	88836358	2	4	250	1	0	0	0	0	0	0	0	1	6527	813	29	2		2	GLUD1	10	88836358	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	32730225	88836358	46698389	135	44852											
PKD2L1	9033	broad.mit.edu	37	chr10	102050202	102050202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcctgctctggcagcCtctggacccgatttgccttg	4	11	10	16	1	2	0	0	0	2	0	3	2	3	1	5	2	4	2	5	2	0	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:102050202C>A	ENST00000318222.3	-	13	2464	c.2082G>T	c.(2080-2082)gaG>gaT	p.E694D	PKD2L1_ENST00000353274.3_Missense_Mutation_p.E694D|PKD2L1_ENST00000338519.3_Missense_Mutation_p.E619D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	694					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTCTGGCAGCCTCTGGACCCG	0.527													8	23					0.000157383	0.000186689	1	0	A	102050202	C	A	102050202	3	1	250	1	0	0	0	0	1	0	0	0	12039	680	24	4	351	4	PKD2L1	10	102050202	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	13213844	102050202	33484545	136	44853											
WNT8B	7479	broad.mit.edu	37	chr10	102241771	102241771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacaggacaggatgcacGggcagccatgaacctgcaca	14	3	13	11	1	0	1	0	1	0	0	0	4	0	4	2	4	5	3	2	4	2	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:102241771G>A	ENST00000343737.5	+	5	598	c.470G>A	c.(469-471)cGg>cAg	p.R157Q		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	157					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CAGGATGCACGGGCAGCCATG	0.592											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	48					0	0	0	0	A	102241771	G	A	102241771	3	1	250	1	0	0	0	0	1	0	0	0	17493	1116	39	1	488	1	WNT8B	10	102241771	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	191569	102241771	33292976	137	44854											
MUC5B	727897	broad.mit.edu	37	chr11	1263788	1263788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtaccccagccaccagctCcacggccacgccctcctcaa	9	4	6	22	2	1	0	1	0	0	0	3	0	3	0	8	1	3	2	8	1	2	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:1263788C>A	ENST00000447027.1	+	31	5745	c.5687C>A	c.(5686-5688)tCc>tAc	p.S1896Y	MUC5B_ENST00000529681.1_Missense_Mutation_p.S1893Y|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1893	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACCAGCTCCACGGCCACG	0.612													45	81					1.86633e-21	2.81587e-21	1	0	A	1263788	C	A	1263788	3	1	250	1	0	0	0	0	1	0	0	0	10049	855	30	2	5809	2	MUC5B	11	1263788	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08		1263788	133742728	138	44855											
OR52L1	338751	broad.mit.edu	37	chr11	6007529	6007529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccataagctcgattgactGtggtttctgagcaggcaagt	9	11	12	9	1	1	2	0	2	1	0	2	3	1	2	1	2	2	4	1	2	2	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:6007529G>T	ENST00000332249.4	-	1	686	c.632C>A	c.(631-633)aCa>aAa	p.T211K		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGATTGACTGTGGTTTCTGA	0.493													55	99					5.22555e-25	7.98929e-25	1	0	T	6007529	G	T	6007529	3	4	250	1	0	0	0	0	1	0	0	0	11196	1377	48	4	361	4	OR52L1	11	6007529	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	4743741	6007529	128998987	139	44856											
DCHS1	8642	broad.mit.edu	37	chr11	6643935	6643935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggactaggtggctccCggcccagtttctgcagtgag	5	10	16	10	1	1	1	0	1	1	0	2	2	2	2	2	5	1	3	2	5	1	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:6643935C>T	ENST00000299441.3	-	21	9383	c.8972G>A	c.(8971-8973)cGg>cAg	p.R2991Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2991					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTGGCTCCCGGCCCAGTTT	0.642													5	5					0	0	0	0	T	6643935	C	T	6643935	3	4	250	1	0	0	0	0	1	0	0	0	4319	652	23	1	928	1	DCHS1	11	6643935	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	636406	6643935	128362581	140	44857											
OR5P2	120065	broad.mit.edu	37	chr11	7818034	7818034	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagtagtataggagacAgcaatgagaaaaccagctat	19	6	11	5	0	0	2	0	1	0	2	0	5	0	3	1	2	3	4	1	2	9	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:7818034A>G	ENST00000329434.2	-	1	486	c.456T>C	c.(454-456)gcT>gcC	p.A152A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TATAGGAGACAGCAATGAGAA	0.388													31	44					0	0	0	0	G	7818034	A	G	7818034	2	3	250	1	0	0	0	0	0	0	0	1	11249	175	7	5		5	OR5P2	11	7818034	Silent	SNP	A	TCGA-CV-6935-01A-11D-1912-08	1174099	7818034	127188482	141	44858											
ST5	6764	broad.mit.edu	37	chr11	8737301	8737301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggtaatcgtggcagcCggtggctcttcctttctgac	4	14	12	11	2	3	1	0	1	3	0	5	1	4	1	2	4	1	3	2	4	1	4	rs144868309		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:8737301C>T	ENST00000534127.1	-	9	2079	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	ST5_ENST00000357665.1_Missense_Mutation_p.R565Q|ST5_ENST00000530438.1_Missense_Mutation_p.R145Q|ST5_ENST00000526757.1_Missense_Mutation_p.R145Q|ST5_ENST00000313726.6_Missense_Mutation_p.R565Q|ST5_ENST00000526099.1_Missense_Mutation_p.R78Q|ST5_ENST00000530991.1_Missense_Mutation_p.R37Q	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	565					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCGTGGCAGCCGGTGGCTCTT	0.617													41	80					0	0	0	0	T	8737301	C	T	8737301	3	4	250	1	0	0	0	0	1	0	0	0	15310	652	23	1	1779	1	ST5	11	8737301	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	919267	8737301	126269215	142	44859											
ANO5	203859	broad.mit.edu	37	chr11	22301128	22301128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatttttgctggcctggatGatacctgatgttccaaaaga	12	13	9	7	0	0	3	0	2	0	1	1	4	1	4	3	2	2	2	3	2	4	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:22301128G>T	ENST00000324559.8	+	22	2876	c.2559G>T	c.(2557-2559)atG>atT	p.M853I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	853						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGCCTGGATGATACCTGATG	0.358													17	37					0.00074312	0.000875457	1	0	T	22301128	G	T	22301128	3	4	250	1	0	0	0	0	1	0	0	0	699	1290	45	2	2645	2	ANO5	11	22301128	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	13563827	22301128	112705388	143	44860											
LRP4	4038	broad.mit.edu	37	chr11	46908046	46908046	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaagctgattcgacggaTgtccatccttcgggcaaaaa	12	9	10	10	3	1	1	1	1	0	0	5	3	3	2	2	2	1	2	2	2	3	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:46908046T>C	ENST00000378623.1	-	17	2496	c.2254A>G	c.(2254-2256)Atc>Gtc	p.I752V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	752					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATTCGACGGATGTCCATCCTT	0.517													25	34					0	0	0	0	C	46908046	T	C	46908046	3	2	250	1	0	0	0	0	1	0	0	0	9023	1464	51	5	3551	5	LRP4	11	46908046	Missense_Mutation	SNP	T	TCGA-CV-6935-01A-11D-1912-08	24606918	46908046	88098470	144	44861											
OR4X2	119764	broad.mit.edu	37	chr11	48267430	48267430	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttctaccactctgcccAtagacaagatggtggctgtg	8	10	11	12	0	2	2	0	0	2	2	2	2	2	2	3	3	2	1	3	3	3	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:48267430A>G	ENST00000302329.3	+	1	823	c.775A>G	c.(775-777)Ata>Gta	p.I259V		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CACTCTGCCCATAGACAAGAT	0.512													26	32					0	0	0	0	G	48267430	A	G	48267430	3	3	250	1	0	0	0	0	1	0	0	0	11156	217	8	5	777	5	OR4X2	11	48267430	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	1359384	48267430	86739086	145	44862											
OR4A47	403253	broad.mit.edu	37	chr11	48511249	48511249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaagaagctctggagaaGagacctcatatcaagtagta	16	9	10	6	0	3	4	2	1	1	3	3	6	3	4	1	1	1	3	1	1	8	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:48511249G>T	ENST00000446524.1	+	1	981	c.905G>T	c.(904-906)aGa>aTa	p.R302I		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CTCTGGAGAAGAGACCTCATA	0.413													28	50					1.77063e-15	2.48611e-15	1	0	T	48511249	G	T	48511249	3	4	250	1	0	0	0	0	1	0	0	0	11113	942	33	2	907	2	OR4A47	11	48511249	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	243819	48511249	86495267	146	44863											
OR4C46	119749	broad.mit.edu	37	chr11	51515722	51515722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctaatgggagtggtgtgGatgggaggctttcttcatgc	6	13	16	6	0	2	0	1	0	1	0	2	3	2	3	0	5	2	2	0	5	1	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:51515722G>T	ENST00000328188.1	+	1	441	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAGTGGTGTGGATGGGAGGCT	0.463													75	119					1.15098e-32	1.84156e-32	1	0	T	51515722	G	T	51515722	3	4	250	1	0	0	0	0	1	0	0	0	11122	1183	41	2	443	2	OR4C46	11	51515722	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	3004473	51515722	83490794	147	44864											
OR5T3	390154	broad.mit.edu	37	chr11	56019812	56019812	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccatgtttatattgacagGcttcacagatgattttgagc	11	14	8	8	0	1	4	1	3	0	1	1	4	1	4	1	1	1	2	1	1	2	7			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:56019812G>C	ENST00000303059.3	+	1	137	c.137G>C	c.(136-138)gGc>gCc	p.G46A		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATATTGACAGGCTTCACAGAT	0.373													41	67					0	0	0	0	C	56019812	G	C	56019812	3	2	250	1	0	0	0	0	1	0	0	0	11254	1203	42	4	139	4	OR5T3	11	56019812	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	4504090	56019812	78986704	148	44865											
OR5M1	390168	broad.mit.edu	37	chr11	56380788	56380788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtctacaaaggagaggtggCcaaggaagaaatacatgggt	15	7	14	5	0	1	2	0	0	1	2	1	4	1	3	1	5	2	0	1	5	6	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:56380788C>T	ENST00000526538.1	-	1	190	c.191G>A	c.(190-192)gGc>gAc	p.G64D		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GGAGAGGTGGCCAAGGAAGAA	0.468													44	80					0	0	0	0	T	56380788	C	T	56380788	3	4	250	1	0	0	0	0	1	0	0	0	11243	739	26	4	760	4	OR5M1	11	56380788	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	360976	56380788	78625728	149	44866											
ACY3	91703	broad.mit.edu	37	chr11	67410230	67410230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggggcaggggtcagcgcggGcatggcaggcacggtgaatg	7	4	21	9	4	1	1	1	1	0	0	1	1	1	1	0	8	1	4	0	8	1	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:67410230G>T	ENST00000255082.3	-	8	1095	c.925C>A	c.(925-927)Ccc>Acc	p.P309T	ACY3_ENST00000529256.1_Missense_Mutation_p.P188T	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	309					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GTCAGCGCGGGCATGGCAGGC	0.587													45	98					4.78724e-31	7.58899e-31	1	0	T	67410230	G	T	67410230	3	4	250	1	0	0	0	0	1	0	0	0	227	1203	42	4	38	4	ACY3	11	67410230	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	11029442	67410230	67596286	150	44867											
LRP5	4041	broad.mit.edu	37	chr11	68154175	68154175	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatcgcactgcaccccgtGatggggtaagacgggcgggg	7	5	17	12	4	0	2	0	1	0	1	1	2	0	2	3	5	1	3	3	5	1	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:68154175G>A	ENST00000294304.7	+	6	1513	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	469	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCACCCCGTGATGGGGTAAG	0.672													13	27					0	0	0	0	A	68154175	G	A	68154175	2	1	250	1	0	0	0	0	0	0	0	1	9024	1277	45	2		2	LRP5	11	68154175	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	743945	68154175	66852341	151	44868											
P2RY2	5029	broad.mit.edu	37	chr11	72946311	72946311	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtccacgccggctggtagCgagaacactaaggacattcg	11	6	13	11	4	0	1	0	0	0	1	2	4	1	2	2	3	2	2	2	3	3	3	rs145119561	by1000genomes	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:72946311C>G	ENST00000311131.2	+	3	1574	c.1107C>G	c.(1105-1107)agC>agG	p.S369R	P2RY2_ENST00000393596.2_Missense_Mutation_p.S369R|P2RY2_ENST00000393597.2_Missense_Mutation_p.S369R	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	369					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CGGCTGGTAGCGAGAACACTA	0.552													47	35					0	0	0	0	G	72946311	C	G	72946311	3	3	250	1	0	0	0	0	1	0	0	0	11423	767	27	3	1109	3	P2RY2	11	72946311	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	4792136	72946311	62060205	152	44869											
RELT	84957	broad.mit.edu	37	chr11	73101965	73101965	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtggagactgctggcctGggtaagccaaagggagtgcg	8	8	17	8	1	1	1	0	0	1	1	1	3	1	2	2	4	3	2	2	4	2	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:73101965G>T	ENST00000064780.2	+	4	547	c.287_splice	c.e4+1	p.G96_splice	RELT_ENST00000393580.2_Splice_Site_p.G96_splice	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	96						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CTGCTGGCCTGGGTAAGCCAA	0.632													24	19					1.77063e-15	2.48611e-15	1	0	T	73101965	G	T	73101965	5	4	250	1	0	0	0	0	0	0	1	0	13303	1362	47	4	296	4	RELT	11	73101965	Splice_Site	SNP	G	TCGA-CV-6935-01A-11D-1912-08	155654	73101965	61904551	153	44870											
OR2AT4	341152	broad.mit.edu	37	chr11	74800246	74800246	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcaatgctgttatatgcCatctgggaggtccttactac	9	13	10	9	0	1	0	0	0	1	0	2	1	2	1	2	3	4	3	2	3	6	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:74800246C>G	ENST00000305159.3	-	1	553	c.513G>C	c.(511-513)atG>atC	p.M171I		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGTTATATGCCATCTGGGAGG	0.572													25	9					0	0	0	0	G	74800246	C	G	74800246	3	3	250	1	0	0	0	0	1	0	0	0	11058	594	21	4	452	4	OR2AT4	11	74800246	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	1698281	74800246	60206270	154	44871											
MYO7A	4647	broad.mit.edu	37	chr11	76916513	76916513	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctcctgcaggtacagCgaggagcggggttgggagct	6	7	17	11	2	0	0	0	0	0	0	2	3	2	2	3	5	5	4	3	5	1	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:76916513C>T	ENST00000409709.3	+	40	5759	c.5487C>T	c.(5485-5487)agC>agT	p.S1829S	MYO7A_ENST00000409619.2_Silent_p.S1780S|MYO7A_ENST00000605744.1_Intron|MYO7A_ENST00000458637.2_Silent_p.S1791S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1829	MyTH4 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCAGGTACAGCGAGGAGCGGG	0.677													5	0					0	0	0	0	T	76916513	C	T	76916513	2	4	250	1	0	0	0	0	0	0	0	1	10152	767	27	1		1	MYO7A	11	76916513	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	2116267	76916513	58090003	155	44872											
MMP13	4322	broad.mit.edu	37	chr11	102818711	102818711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttaacttcttttggaagacCcagttcagatatttttttgg	9	18	7	7	0	2	2	1	0	1	2	2	3	2	3	1	2	1	1	1	2	3	9			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:102818711C>G	ENST00000260302.3	-	8	1148	c.1120G>C	c.(1120-1122)Ggt>Cgt	p.G374R	MMP13_ENST00000340273.4_Missense_Mutation_p.G374R	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	374	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTTGGAAGACCCAGTTCAGAT	0.403													21	13					0	0	0	0	G	102818711	C	G	102818711	3	3	250	1	0	0	0	0	1	0	0	0	9721	623	22	4	307	4	MMP13	11	102818711	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	25902198	102818711	32187805	156	44873											
GRIA4	2893	broad.mit.edu	37	chr11	105789531	105789531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagatttggcatctgaaattGcaaaacatattggtatcaag	15	13	8	5	0	2	2	1	1	1	1	2	2	2	2	0	2	2	3	0	2	7	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:105789531G>C	ENST00000393127.2	+	11	1809	c.1363G>C	c.(1363-1365)Gca>Cca	p.A455P	GRIA4_ENST00000530497.1_Missense_Mutation_p.A455P|GRIA4_ENST00000282499.5_Missense_Mutation_p.A455P|GRIA4_ENST00000525187.1_Missense_Mutation_p.A455P	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	455					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATCTGAAATTGCAAAACATAT	0.353													13	5					0	0	0	0	C	105789531	G	C	105789531	3	2	250	1	0	0	0	0	1	0	0	0	6820	1319	46	4	1438	4	GRIA4	11	105789531	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	2970820	105789531	29216985	157	44874											
FGF23	8074	broad.mit.edu	37	chr12	4479740	4479740	+	Frame_Shift_Del	DEL	C	C	-																															tcggcgctccgggtgtgccgCcgtggtatgggggtgttgaa																										TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:4479740delC	ENST00000237837.1	-	3	670	c.525delG	c.(523-525)cgfs	p.R176fs		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	176			R -> Q (in ADHR; partially resistant to cleavage by furin).		cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GGGTGTGCCGCCGTGGTATGG	0.672													31	42	---	---	---	---					-	4479740	C	-	4479740	7	5	250	1	0	1	0	1	0	0	0	0	5897	726	26	0	234	0	FGF23	12	4479740	Frame_Shift_Del	DEL	C	TCGA-CV-6935-01A-11D-1912-08		4479740	129372155	158	44875											
PRB2	653247	broad.mit.edu	37	chr12	11546873	11546873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagatgggggaccttgagGtttgttgcctccttgtgggg	5	12	18	6	0	0	2	0	1	0	1	1	4	1	3	3	6	1	2	3	6	0	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:11546873G>T	ENST00000389362.4	-	3	174	c.139C>A	c.(139-141)Cct>Act	p.P47T	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGACCTTGAGGTTTGTTGCCT	0.537													144	181					2.60356e-62	4.28528e-62	1	0	T	11546873	G	T	11546873	3	4	250	1	0	0	0	0	1	0	0	0	12523	1261	44	4	1115	4	PRB2	12	11546873	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	7067133	11546873	122305022	159	44876											
FAM60A	58516	broad.mit.edu	37	chr12	31435799	31435799	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatgatcccacaacatatCttctgtctaaaagaaaaaat	18	11	4	8	0	3	3	0	1	3	2	4	3	4	3	1	0	1	0	1	0	8	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:31435799C>T	ENST00000337682.4	-	6	881	c.513G>A	c.(511-513)aaG>aaA	p.K171K	FAM60A_ENST00000454658.2_Silent_p.K171K|FAM60A_ENST00000542983.1_Silent_p.K23K|FAM60A_ENST00000539409.1_Silent_p.K23K|FAM60A_ENST00000395766.1_Silent_p.K23K	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	171										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					CACAACATATCTTCTGTCTAA	0.353													17	29					0	0	0	0	T	31435799	C	T	31435799	2	4	250	1	0	0	0	0	0	0	0	1	5641	912	32	2		2	FAM60A	12	31435799	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	19888926	31435799	102416096	160	44877											
ABCD2	225	broad.mit.edu	37	chr12	39947723	39947723	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaaaacaaattaagatgtCtcatcttcatttttaattgt	14	17	4	6	0	4	1	3	0	2	1	5	1	4	1	0	0	1	0	0	0	5	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:39947723C>G	ENST00000308666.3	-	10	2349	c.2214G>C	c.(2212-2214)gaG>gaC	p.E738D		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	738					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATTAAGATGTCTCATCTTCAT	0.323													4	7					0	0	0	0	G	39947723	C	G	39947723	3	3	250	1	0	0	0	0	1	0	0	0	61	912	32	2	12	2	ABCD2	12	39947723	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	8511924	39947723	93904172	161	44878											
PPFIA2	8499	broad.mit.edu	37	chr12	81738464	81738464	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctccgatgtttcctcagAtcacttggctgtgattggca	6	16	9	10	1	3	2	2	1	1	1	5	3	4	2	2	2	0	3	2	2	0	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:81738464A>T	ENST00000550584.2	-	18	2536	c.2241T>A	c.(2239-2241)gaT>gaA	p.D747E	PPFIA2_ENST00000407050.4_Missense_Mutation_p.D673E|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D594E|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D648E|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D729E|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D747E|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D314E|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D729E|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D747E|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D747E	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	673										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTTTCCTCAGATCACTTGGCT	0.279													3	0					0	0	0	0	T	81738464	A	T	81738464	3	4	250	1	0	0	0	0	1	0	0	0	12381	330	12	5	1588	5	PPFIA2	12	81738464	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	41790741	81738464	52113431	162	44879											
DUSP6	1848	broad.mit.edu	37	chr12	89745444	89745444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagaacgcccggcagccctCgtccttgagcttcttgagca	7	9	11	14	3	1	3	0	2	1	1	3	3	2	3	3	1	4	4	3	1	2	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:89745444C>T	ENST00000279488.7	-	1	1604	c.373G>A	c.(373-375)Gag>Aag	p.E125K	DUSP6_ENST00000308385.6_Missense_Mutation_p.E125K	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	125	Rhodanese.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CGGCAGCCCTCGTCCTTGAGC	0.687													6	2					0	0	0	0	T	89745444	C	T	89745444	3	4	250	1	0	0	0	0	1	0	0	0	4865	893	31	1	784	1	DUSP6	12	89745444	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	8006980	89745444	44106451	163	44880											
LUM	4060	broad.mit.edu	37	chr12	91502199	91502199	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aagctcaagtcaaggtattcGagtgatttaagacctttaaa	15	12	8	6	1	2	2	2	1	0	1	3	3	2	2	1	1	1	2	1	1	7	6	rs144214151		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:91502199G>C	ENST00000266718.4	-	2	1012	c.558C>G	c.(556-558)ctC>ctG	p.L186L	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	186					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CAAGGTATTCGAGTGATTTAA	0.433													40	12					0	0	0	0	C	91502199	G	C	91502199	2	2	250	1	0	0	0	0	0	0	0	1	9149	1045	37	3		3	LUM	12	91502199	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	1756755	91502199	42349696	164	44881											
TBX3	6926	broad.mit.edu	37	chr12	115109999	115109999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgttcagattgaggaaggGgtggcggtgcaccgagctgg	7	8	20	6	2	1	2	1	1	0	1	1	4	1	3	1	7	2	3	1	7	1	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:115109999G>A	ENST00000349155.2	-	7	2782	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	TBX3_ENST00000257566.3_Missense_Mutation_p.P627S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	627	Transcription repression.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTGAGGAAGGGGTGGCGGTGC	0.682													3	2					0	0	0	0	A	115109999	G	A	115109999	3	1	250	1	0	0	0	0	1	0	0	0	15753	1232	43	4	356	4	TBX3	12	115109999	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	23607800	115109999	18741896	165	44882											
HNF1A	6927	broad.mit.edu	37	chr12	121438953	121438953	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccaaccacagcgtcatCgagaccttcatctccaccca	11	7	4	19	2	3	1	2	0	1	1	6	2	4	1	6	0	2	0	6	0	1	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:121438953C>A	ENST00000257555.6	+	10	2080	c.1854C>A	c.(1852-1854)atC>atA	p.I618I	RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000544413.1_Silent_p.I625I|HNF1A_ENST00000541395.1_Silent_p.I649I			P20823	HNF1A_HUMAN	HNF1 homeobox A	618			I -> M (in MODY3).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACAGCGTCATCGAGACCTTCA	0.617									Hepatic Adenoma, Familial Clustering of				10	5					1.58986e-06	1.94631e-06	1	0	A	121438953	C	A	121438953	2	1	250	1	0	0	0	0	0	0	0	1	7301	874	31	3		3	HNF1A	12	121438953	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	6328954	121438953	12412942	166	44883											
CDK8	1024	broad.mit.edu	37	chr13	26911771	26911771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctatgtcggcatgtagaGaaatagcagtaagtgaagtt	13	12	11	5	1	1	2	0	1	1	1	3	3	1	2	0	1	1	5	0	1	6	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:26911771G>C	ENST00000381527.3	+	2	699	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	CDK8_ENST00000536792.1_Missense_Mutation_p.E66Q	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	66	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GGCATGTAGAGAAATAGCAGT	0.294													30	51					0	0	0	0	C	26911771	G	C	26911771	3	2	250	1	0	0	0	0	1	0	0	0	3179	943	33	2	202	2	CDK8	13	26911771	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08		26911771	88258107	167	44884											
ALG5	29880	broad.mit.edu	37	chr13	37524134	37524134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccagtcaaatatcgaagtCgtataaaaagtaggtcttta	16	11	7	7	2	2	0	1	0	1	0	4	1	2	0	1	1	0	2	1	1	9	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:37524134C>T	ENST00000239891.3	-	10	986	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	ALG5_ENST00000443765.1_Missense_Mutation_p.R277Q	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	307					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		ATATCGAAGTCGTATAAAAAG	0.353													16	33					0	0	0	0	T	37524134	C	T	37524134	3	4	250	1	0	0	0	0	1	0	0	0	521	884	31	1	58	1	ALG5	13	37524134	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	10612363	37524134	77645744	168	44885											
FREM2	341640	broad.mit.edu	37	chr13	39446956	39446956	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgttccattcccccgtgggGgtaggaggctggcagcattt	5	11	15	10	1	0	0	0	0	0	0	2	1	2	1	3	5	1	5	3	5	1	4	rs147947821		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:39446956G>T	ENST00000280481.7	+	17	8277	c.8061G>T	c.(8059-8061)ggG>ggT	p.G2687G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2687					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCCCGTGGGGGTAGGAGGCT	0.488													40	64					9.8876e-21	1.47884e-20	1	0	T	39446956	G	T	39446956	2	4	250	1	0	0	0	0	0	0	0	1	6093	1219	43	4		4	FREM2	13	39446956	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	1922822	39446956	75722922	169	44886											
HTR2A	3356	broad.mit.edu	37	chr13	47409480	47409480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcctgtgtaggaccctGgctccctatggatcgaccgc	5	10	11	15	2	0	0	0	0	0	0	3	3	2	2	5	3	1	2	5	3	2	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:47409480G>A	ENST00000378688.4	-	3	1039	c.908C>T	c.(907-909)cCa>cTa	p.P303L	HTR2A_ENST00000543956.1_Missense_Mutation_p.P219L|HTR2A_ENST00000542664.1_Missense_Mutation_p.P303L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	303					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.P303Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTAGGACCCTGGCTCCCTATG	0.517													21	29					0	0	0	0	A	47409480	G	A	47409480	3	1	250	1	0	0	0	0	1	0	0	0	7494	1348	47	4	511	4	HTR2A	13	47409480	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	7962524	47409480	67760398	170	44887											
SLC15A1	6564	broad.mit.edu	37	chr13	99364806	99364806	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccctcttgggaaatgccttActccgatgcctaaatctatt	9	14	6	12	1	2	0	0	0	2	0	4	2	4	1	4	1	3	0	4	1	5	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:99364806A>G	ENST00000376503.5	-	10	811	c.756T>C	c.(754-756)agT>agC	p.S252S		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	252					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GAAATGCCTTACTCCGATGCC	0.433													37	92					0	0	0	0	G	99364806	A	G	99364806	2	3	250	1	0	0	0	0	0	0	0	1	14486	388	14	5		5	SLC15A1	13	99364806	Silent	SNP	A	TCGA-CV-6935-01A-11D-1912-08	51955326	99364806	15805072	171	44888											
DOCK9	23348	broad.mit.edu	37	chr13	99452600	99452600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatcatgtccacctcggccGaggagcacagctgccggagc	8	6	13	14	3	1	1	1	1	0	0	3	4	2	3	4	3	4	2	4	3	0	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:99452600G>A	ENST00000376460.1	-	53	5980	c.5900C>T	c.(5899-5901)tCg>tTg	p.S1967L	DOCK9_ENST00000339416.2_Missense_Mutation_p.S1954L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1968	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACCTCGGCCGAGGAGCACAG	0.612													11	21					0	0	0	0	A	99452600	G	A	99452600	3	1	250	1	0	0	0	0	1	0	0	0	4730	1059	37	1	326	1	DOCK9	13	99452600	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	87794	99452600	15717278	172	44889											
COL4A1	1282	broad.mit.edu	37	chr13	110828798	110828798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccattccaccaacagatcCttttggtcccggaagtcctg	8	10	8	15	1	0	1	0	0	0	1	4	2	4	2	6	2	1	0	6	2	2	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:110828798C>T	ENST00000375820.4	-	36	3152	c.3031G>A	c.(3031-3033)Gga>Aga	p.G1011R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1011	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAACAGATCCTTTTGGTCCC	0.483													23	44					0	0	0	0	T	110828798	C	T	110828798	3	4	250	1	0	0	0	0	1	0	0	0	3719	690	24	4	2046	4	COL4A1	13	110828798	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	11376198	110828798	4341080	173	44890											
OR4Q3	441669	broad.mit.edu	37	chr14	20216179	20216179	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacctatgtggtagaggTgctggtgatagccaacagtg	10	9	15	7	0	0	2	0	1	0	1	0	3	0	3	2	4	3	2	2	4	4	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr14:20216179T>A	ENST00000331723.1	+	1	593	c.593T>A	c.(592-594)gTg>gAg	p.V198E		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGTAGAGGTGCTGGTGATA	0.493													25	36					0	0	0	0	A	20216179	T	A	20216179	3	1	250	1	0	0	0	0	1	0	0	0	11152	1696	59	5	595	5	OR4Q3	14	20216179	Missense_Mutation	SNP	T	TCGA-CV-6935-01A-11D-1912-08		20216179	87133361	174	44891											
METTL3	56339	broad.mit.edu	37	chr14	21969087	21969087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtcggtctgcactggaatCacctccgacactctgtgtaa	9	10	10	12	2	3	0	1	0	2	0	5	3	4	1	2	2	1	2	2	2	2	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr14:21969087C>T	ENST00000298717.4	-	5	1235	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	362					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GCACTGGAATCACCTCCGACA	0.507													12	8					0	0	0	0	T	21969087	C	T	21969087	3	4	250	1	0	0	0	0	1	0	0	0	9570	826	29	2	686	2	METTL3	14	21969087	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	1752908	21969087	85380453	175	44892											
PLEKHG3	26030	broad.mit.edu	37	chr14	65194605	65194605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagccgggcagcggcagggCctgcacaccacaagctcagc	10	2	13	16	2	1	0	1	0	0	0	1	0	1	0	3	3	5	4	3	3	1	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr14:65194605C>T	ENST00000247226.7	+	2	564	c.256C>T	c.(256-258)Cct>Tct	p.P86S	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.P86S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	86					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCGGCAGGGCCTGCACACCA	0.637													8	4					0	0	0	0	T	65194605	C	T	65194605	3	4	250	1	0	0	0	0	1	0	0	0	12142	739	26	4	258	4	PLEKHG3	14	65194605	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	43225518	65194605	42154935	176	44893											
CYFIP1	23191	broad.mit.edu	37	chr15	22956494	22956494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagacaaaagtggttccaaGaaaaccttgagaagtagcct	16	7	10	8	0	0	3	0	1	0	3	1	4	1	3	3	1	2	3	3	1	7	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:22956494G>C	ENST00000313077.7	+	16	1856	c.1731G>C	c.(1729-1731)aaG>aaC	p.K577N	CYFIP1_ENST00000435939.2_Missense_Mutation_p.K146N|CYFIP1_ENST00000560848.1_Missense_Mutation_p.K577N	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	577					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GTGGTTCCAAGAAAACCTTGA	0.408													32	15					0	0	0	0	C	22956494	G	C	22956494	3	2	250	1	0	0	0	0	1	0	0	0	4169	933	33	2	2170	2	CYFIP1	15	22956494	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08		22956494	79574898	177	44894											
RYR3	6263	broad.mit.edu	37	chr15	33954863	33954863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtgcagcggggcccacatccGagaccctgtaggggggtctg	6	6	17	12	2	1	1	0	0	1	1	2	2	2	1	3	5	2	2	3	5	1	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:33954863G>C	ENST00000389232.4	+	35	5202	c.5132G>C	c.(5131-5133)cGa>cCa	p.R1711P	RYR3_ENST00000415757.3_Missense_Mutation_p.R1711P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1711	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1711L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCCACATCCGAGACCCTGTA	0.562													23	18					0	0	0	0	C	33954863	G	C	33954863	3	2	250	1	0	0	0	0	1	0	0	0	13855	1058	37	3	5270	3	RYR3	15	33954863	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	10998369	33954863	68576529	178	44895											
SLC24A5	283652	broad.mit.edu	37	chr15	48434437	48434437	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatggctggaaactagaCagaaagttgggaatagtctg	14	10	12	5	0	2	2	1	0	1	2	2	4	2	4	0	3	1	2	0	3	6	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:48434437C>T	ENST00000341459.3	+	9	1465	c.1392C>T	c.(1390-1392)gaC>gaT	p.D464D	SLC24A5_ENST00000449382.2_Silent_p.D404D|MYEF2_ENST00000324324.7_3'UTR|MYEF2_ENST00000267836.6_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	464					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GGAAACTAGACAGAAAGTTGG	0.343													40	20					0	0	0	0	T	48434437	C	T	48434437	2	4	250	1	0	0	0	0	0	0	0	1	14557	477	17	4		4	SLC24A5	15	48434437	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	14479574	48434437	54096955	179	44896											
FBN1	2200	broad.mit.edu	37	chr15	48818391	48818391	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttgcaaaagtaactgctGactgtgtttgtacattcacc	11	14	7	9	0	1	1	1	1	0	0	1	1	1	1	1	0	4	5	1	0	4	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:48818391G>A	ENST00000316623.5	-	9	1379	c.924C>T	c.(922-924)gtC>gtT	p.V308V		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	308	EGF-like 5; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGTAACTGCTGACTGTGTTTG	0.403													50	11					0	0	0	0	A	48818391	G	A	48818391	2	1	250	1	0	0	0	0	0	0	0	1	5747	1277	45	2		2	FBN1	15	48818391	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	383954	48818391	53713001	180	44897											
BNC1	646	broad.mit.edu	37	chr15	83926817	83926817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgcacggaaatgatcttCactactctccaatgcttcct	10	12	6	13	1	3	1	1	1	2	0	5	2	4	2	2	1	4	3	2	1	3	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:83926817C>T	ENST00000345382.2	-	5	2447	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	BNC1_ENST00000569704.1_Missense_Mutation_p.E781K|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	788					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AAATGATCTTCACTACTCTCC	0.458													36	63					0	0	0	0	T	83926817	C	T	83926817	3	4	250	1	0	0	0	0	1	0	0	0	1479	835	29	2	626	2	BNC1	15	83926817	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	35108426	83926817	18604575	181	44898											
AKAP13	11214	broad.mit.edu	37	chr15	86124699	86124699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccgttctaggtttgccaGtggctctacaggacaaagct	9	11	11	10	1	2	0	0	0	2	0	2	1	2	1	2	3	4	4	2	3	3	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:86124699G>A	ENST00000394518.2	+	7	3495	c.3400G>A	c.(3400-3402)Gtg>Atg	p.V1134M	AKAP13_ENST00000361243.2_Missense_Mutation_p.V1134M	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1134					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGGTTTGCCAGTGGCTCTACA	0.507													64	19					0	0	0	0	A	86124699	G	A	86124699	3	1	250	1	0	0	0	0	1	0	0	0	449	1029	36	4	3422	4	AKAP13	15	86124699	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	2197882	86124699	16406693	182	44899											
LRRK1	79705	broad.mit.edu	37	chr15	101567909	101567909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgccgcagccgggacGacgacgtgcagtacctgacg	9	3	15	14	7	0	1	0	1	0	0	0	4	0	2	3	1	5	4	3	1	1	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:101567909G>T	ENST00000284395.5	+	20	2984	c.2584G>T	c.(2584-2586)Gac>Tac	p.D862Y	LRRK1_ENST00000388948.3_Missense_Mutation_p.D865Y			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	865					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGCCGGGACGACGACGTGCA	0.662													12	7					7.93312e-07	9.74641e-07	1	0	T	101567909	G	T	101567909	3	4	250	1	0	0	0	0	1	0	0	0	9096	1058	37	3	2663	3	LRRK1	15	101567909	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	15443210	101567909	963483	183	44900											
GRIN2A	2903	broad.mit.edu	37	chr16	10274094	10274094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggggcagccccgccgcctGctcggggccccacagtgttc	4	5	14	18	3	0	0	0	0	0	0	2	0	0	0	6	4	2	3	6	4	0	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:10274094G>T	ENST00000396573.2	-	3	484	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q59K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q59K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q59K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q59K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	59					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCGCCGCCTGCTCGGGGCCC	0.657													44	77					1.8453e-21	2.7964e-21	1	0	T	10274094	G	T	10274094	3	4	250	1	0	0	0	0	1	0	0	0	6829	1328	46	4	4267	4	GRIN2A	16	10274094	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08		10274094	80080659	184	44901											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19127024	19127026	+	In_Frame_Del	DEL	TGC	TGC	-																															caagacagtgctgctggcagTgctgctgcgcaagggggccc																										TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:19127024_19127026delTGC	ENST00000381440.3	+	1	1771_1773	c.1241_1243delTGC	c.(1240-1245)gtg>g	p.VL414del	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	414						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTGCTGGCAGTGCTGCTGCGCAA	0.655													83	140	---	---	---	---					-	19127026	TGC	-	19127024	7	5	250	1	0	1	0	1	0	0	0	0	7978	1696	59	0	1243	0	ITPRIPL2	16	19127024	In_Frame_Del	DEL	TGC	TCGA-CV-6935-01A-11D-1912-08	8852930	19127024	71227729	185	44902											
ARHGAP17	55114	broad.mit.edu	37	chr16	24980081	24980081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagcatctccacacgtCtccagcatcttcctttaaaa	10	13	3	15	1	4	0	1	0	4	0	8	0	5	0	3	0	2	2	3	0	2	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:24980081C>A	ENST00000289968.6	-	5	354	c.285G>T	c.(283-285)gaG>gaT	p.E95D	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E95D|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.E95D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	95	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTCCACACGTCTCCAGCATCT	0.507													27	38					2.41591e-17	3.47729e-17	1	0	A	24980081	C	A	24980081	3	1	250	1	0	0	0	0	1	0	0	0	869	912	32	2	2424	2	ARHGAP17	16	24980081	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	5853057	24980081	65374672	186	44903											
RABEP2	79874	broad.mit.edu	37	chr16	28917494	28917494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctcgcctcttgccgcgtGcagcacagcagctgctgcag	5	7	12	17	3	1	0	0	0	1	0	2	0	1	0	3	0	7	6	3	0	0	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:28917494G>A	ENST00000358201.4	-	9	1857	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	RABEP2_ENST00000544477.1_Silent_p.C352C|RABEP2_ENST00000357573.6_Silent_p.C391C	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	423					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CTTGCCGCGTGCAGCACAGCA	0.716													7	10					0	0	0	0	A	28917494	G	A	28917494	2	1	250	1	0	0	0	0	0	0	0	1	13044	1311	46	4		4	RABEP2	16	28917494	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	3937413	28917494	61437259	187	44904											
SEZ6L2	26470	broad.mit.edu	37	chr16	29888756	29888756	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaccgtccccgtcgaacAgcgtcagcatgtccccttcc	6	8	10	17	4	1	0	1	0	0	0	5	2	4	1	6	1	3	1	6	1	1	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:29888756A>T	ENST00000308713.5	-	11	2272	c.1745T>A	c.(1744-1746)cTg>cAg	p.L582Q	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.L538Q|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.L512Q|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.L468Q	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	582	CUB 3.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCGTCGAACAGCGTCAGCAT	0.692													10	26					0	0	0	0	T	29888756	A	T	29888756	3	4	250	1	0	0	0	0	1	0	0	0	14231	188	7	5	1058	5	SEZ6L2	16	29888756	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	971262	29888756	60465997	188	44905											
VKORC1	79001	broad.mit.edu	37	chr16	31105904	31105904	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaagacgcgcgaacagctGatggcggtgcccacgtcgca	10	4	15	12	6	0	3	0	1	0	2	1	5	0	3	1	2	3	2	1	2	2	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:31105904G>A	ENST00000319788.7	-	1	357	c.147C>T	c.(145-147)atC>atT	p.I49I	VKORC1_ENST00000300851.6_Silent_p.I49I|RP11-196G11.1_ENST00000529564.1_Silent_p.I49I|VKORC1_ENST00000394975.2_Silent_p.I49I|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000354895.4_Silent_p.I49I			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	49					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	GCGAACAGCTGATGGCGGTGC	0.682													12	11					0	0	0	0	A	31105904	G	A	31105904	2	1	250	1	0	0	0	0	0	0	0	1	17268	1280	45	2		2	VKORC1	16	31105904	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	1217148	31105904	59248849	189	44906											
CMTM1	113540	broad.mit.edu	37	chr16	66603837	66603837	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctgtttcttttattgcAgagtcttatcttaggagcat	9	18	7	7	0	3	1	0	0	3	1	4	2	4	2	1	1	2	3	1	1	4	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:66603837A>T	ENST00000379500.2	+	2	499		c.e2-1		CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000457188.2_Splice_Site|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000528324.1_Splice_Site|CMTM1_ENST00000328020.6_Splice_Site|CKLF-CMTM1_ENST00000527729.1_Intron	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1						chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CTTTTATTGCAGAGTCTTATC	0.323													31	57					0	0	0	0	T	66603837	A	T	66603837	5	4	250	1	0	0	0	0	0	0	1	0	3612	202	7	5	437	5	CMTM1	16	66603837	Splice_Site	SNP	A	TCGA-CV-6935-01A-11D-1912-08	35497933	66603837	23750916	190	44907											
FUK	197258	broad.mit.edu	37	chr16	70499039	70499039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actcctgcaggtggtcacatCcgatgtcctgcactcggcct	6	10	10	15	2	1	0	1	0	0	0	5	1	4	0	4	3	2	2	4	3	0	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:70499039C>T	ENST00000288078.6	+	4	477	c.245C>T	c.(244-246)tCc>tTc	p.S82F	FUK_ENST00000378912.2_Missense_Mutation_p.S114F|FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	82						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GTGGTCACATCCGATGTCCTG	0.572													11	14					0	0	0	0	T	70499039	C	T	70499039	3	4	250	1	0	0	0	0	1	0	0	0	6144	855	30	2	255	2	FUK	16	70499039	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	3895202	70499039	19855714	191	44908											
PMFBP1	83449	broad.mit.edu	37	chr16	72188112	72188112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttaatctgtctatacctCatcttctttcagtttgcagt	7	19	6	9	0	6	0	2	0	4	0	6	0	6	0	1	1	2	3	1	1	3	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:72188112C>T	ENST00000537465.1	-	4	570	c.412G>A	c.(412-414)Gag>Aag	p.E138K	PMFBP1_ENST00000237353.10_Missense_Mutation_p.E138K|PMFBP1_ENST00000355636.6_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	138										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)				GTCTATACCTCATCTTCTTTC	0.463													42	68					0	0	0	0	T	72188112	C	T	72188112	3	4	250	1	0	0	0	0	1	0	0	0	12206	835	29	2	2743	2	PMFBP1	16	72188112	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	1689073	72188112	18166641	192	44909											
IRF8	3394	broad.mit.edu	37	chr16	85946795	85946795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttccccgccggaggcctGtcggagtcagctccttccag	4	8	11	18	3	1	0	1	0	0	0	5	2	4	2	7	3	1	1	7	3	0	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:85946795G>T	ENST00000268638.5	+	5	928	c.506G>T	c.(505-507)tGt>tTt	p.C169F		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	169					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CCGGAGGCCTGTCGGAGTCAG	0.617													48	88					6.17242e-35	9.92201e-35	1	0	T	85946795	G	T	85946795	3	4	250	1	0	0	0	0	1	0	0	0	7889	1377	48	4	520	4	IRF8	16	85946795	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	13758683	85946795	4407958	193	44910											
TP53	7157	broad.mit.edu	37	chr17	7577557	7577557	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggttcatgccgcccatgcAggaactgttacacatgtagt	9	10	10	12	2	1	0	1	0	0	0	1	1	1	1	3	2	4	4	3	2	3	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:7577557A>T	ENST00000420246.2	-	7	856	c.724T>A	c.(724-726)Tgc>Agc	p.C242S	TP53_ENST00000445888.2_Missense_Mutation_p.C242S|TP53_ENST00000359597.4_Missense_Mutation_p.C242S|TP53_ENST00000269305.4_Missense_Mutation_p.C242S|TP53_ENST00000413465.2_Missense_Mutation_p.C242S|TP53_ENST00000455263.2_Missense_Mutation_p.C242S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGCCCATGCAGGAACTGTTA	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			67	22					0	0	0	0	T	7577557	A	T	7577557	3	4	250	1	0	0	0	0	1	0	0	0	16476	188	7	5	566	5	TP53	17	7577557	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08		7577557	73617653	194	44911											
MYH4	4622	broad.mit.edu	37	chr17	10351339	10351339	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggttcctctttagctgatcGagttcttcatctttttcagc	5	19	7	10	1	5	1	2	1	3	0	7	2	6	1	1	1	2	3	1	1	1	7			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:10351339G>A	ENST00000255381.2	-	34	4871	c.4761C>T	c.(4759-4761)ctC>ctT	p.L1587L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1587					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTAGCTGATCGAGTTCTTCAT	0.418													6	155					0	0	0	0	A	10351339	G	A	10351339	2	1	250	1	0	0	0	0	0	0	0	1	10107	1045	37	1		1	MYH4	17	10351339	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	2773782	10351339	70843871	195	44912											
COX10	1352	broad.mit.edu	37	chr17	13977709	13977709	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctcacaagttcttacAtcttctcaggaatgtcaata	11	13	4	13	0	5	0	3	0	3	0	7	1	6	1	2	1	1	1	2	1	5	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:13977709A>G	ENST00000261643.3	+	2	190	c.113A>G	c.(112-114)cAt>cGt	p.H38R	COX10_ENST00000537334.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.H38R|COX10_ENST00000536205.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	38					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		AAGTTCTTACATCTTCTCAGG	0.403													63	95					0	0	0	0	G	13977709	A	G	13977709	3	3	250	1	0	0	0	0	1	0	0	0	3792	217	8	5	119	5	COX10	17	13977709	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	3626370	13977709	67217501	196	44913											
LYZL6	57151	broad.mit.edu	37	chr17	34266465	34266465	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatctggagagggcagccaGgtttccttactcactcactg	9	10	11	11	0	3	1	2	0	1	1	4	3	4	1	2	3	2	2	2	3	2	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:34266465G>T	ENST00000585556.1	-	0	230				LYZL6_ENST00000293274.4_Intron|LYZL6_ENST00000394523.3_De_novo_Start_InFrame			O75951	LYZL6_HUMAN	lysozyme-like 6						cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGGCAGCCAGGTTTCCTTAC	0.448													8	23					0.00307968	0.00359122	1	0	T	34266465	G	T	34266465	1	4	250	1	0	0	0	0	0	0	0	0	9199	1015	35	4		4	LYZL6	17	34266465	Translation_Start_Site	SNP	G	TCGA-CV-6935-01A-11D-1912-08	20288756	34266465	46928745	197	44914											
THRA	7067	broad.mit.edu	37	chr17	38249328	38249328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcggcagaaggccggcCgggcgggtcactgggcgtcc	5	3	20	13	5	1	1	1	0	0	1	2	1	2	1	3	7	1	2	3	7	1	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:38249328C>A	ENST00000264637.4	+	10	1746	c.1166C>A	c.(1165-1167)cCg>cAg	p.P389Q	NR1D1_ENST00000246672.3_3'UTR|THRA_ENST00000394121.4_Missense_Mutation_p.P389Q|THRA_ENST00000584985.1_Intron	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	389					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GAAGGCCGGCCGGGCGGGTCA	0.552													31	57					4.4194e-11	5.82481e-11	1	0	A	38249328	C	A	38249328	3	1	250	1	0	0	0	0	1	0	0	0	15967	652	23	3	1323	3	THRA	17	38249328	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	3982863	38249328	42945882	198	44915											
RPS6KB1	6198	broad.mit.edu	37	chr17	58024140	58024140	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggccagagcacctgcgtatGaatctatgacagagcaatgc	12	7	11	11	2	1	4	0	2	1	2	1	4	1	4	2	1	4	3	2	1	4	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:58024140G>C	ENST00000225577.4	+	15	1590	c.1569G>C	c.(1567-1569)atG>atC	p.M523I	RPS6KB1_ENST00000443572.2_Missense_Mutation_p.M500I|RPS6KB1_ENST00000406116.3_Intron|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.M470I|RP11-178C3.1_ENST00000591035.1_Intron	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	523	Autoinhibitory domain.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACCTGCGTATGAATCTATGAC	0.463													31	45					0	0	0	0	C	58024140	G	C	58024140	3	2	250	1	0	0	0	0	1	0	0	0	13741	1290	45	2	1627	2	RPS6KB1	17	58024140	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	19774812	58024140	23171070	199	44916											
RECQL5	9400	broad.mit.edu	37	chr17	73657115	73657115	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcctccatccagtcgttCtgcaccagcgttctttcaga	6	14	6	15	2	4	1	1	0	3	1	8	1	6	1	4	0	2	3	4	0	0	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:73657115C>G	ENST00000420326.2	-	6	1065	c.906G>C	c.(904-906)caG>caC	p.Q302H	RECQL5_ENST00000340830.5_Missense_Mutation_p.Q302H|RECQL5_ENST00000317905.5_Missense_Mutation_p.Q302H|RECQL5_ENST00000584999.1_Missense_Mutation_p.Q302H|RECQL5_ENST00000423245.2_Missense_Mutation_p.Q275H	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	302	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCAGTCGTTCTGCACCAGCG	0.512								Other identified genes with known or suspected DNA repair function					14	110					0	0	0	0	G	73657115	C	G	73657115	3	3	250	1	0	0	0	0	1	0	0	0	13285	912	32	2	2216	2	RECQL5	17	73657115	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	15632975	73657115	7538095	200	44917											
GAA	2548	broad.mit.edu	37	chr17	78081647	78081647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttctacctggcgctggagGacggcgggtcggcacacggg	5	7	17	12	5	1	0	0	0	1	0	2	2	1	2	1	7	1	2	1	7	1	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:78081647G>A	ENST00000302262.3	+	5	1126	c.907G>A	c.(907-909)Gac>Aac	p.D303N	GAA_ENST00000390015.3_Missense_Mutation_p.D303N	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	303					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GGCGCTGGAGGACGGCGGGTC	0.687													3	25					0	0	0	0	A	78081647	G	A	78081647	3	1	250	1	0	0	0	0	1	0	0	0	6195	1174	41	2	921	2	GAA	17	78081647	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	4424532	78081647	3113563	201	44918											
LAMA1	284217	broad.mit.edu	37	chr18	7079974	7079974	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttctgggctcacctacCtgtcttaagtccagagtgat	8	13	10	10	0	3	2	1	1	2	1	4	2	4	2	3	2	1	2	3	2	2	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr18:7079974C>G	ENST00000389658.3	-	3	438	c.345_splice	c.e3+1	p.Q115_splice	RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	115	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTCACCTACCTGTCTTAAGT	0.468													9	59					0	0	0	0	G	7079974	C	G	7079974	5	3	250	1	0	0	0	0	0	0	1	0	8658	695	24	4	9126	4	LAMA1	18	7079974	Splice_Site	SNP	C	TCGA-CV-6935-01A-11D-1912-08		7079974	70997274	202	44919											
HRH4	59340	broad.mit.edu	37	chr18	22056718	22056718	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtttcttctaggtgtcttAtagaactcaacatactgggg	9	15	10	7	0	4	1	1	0	3	1	4	1	4	1	0	4	3	1	0	4	6	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr18:22056718A>T	ENST00000256906.4	+	3	465	c.365A>T	c.(364-366)tAt>tTt	p.Y122F	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	122						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TAGGTGTCTTATAGAACTCAA	0.378													7	42					0	0	0	0	T	22056718	A	T	22056718	3	4	250	1	0	0	0	0	1	0	0	0	7408	449	16	5	375	5	HRH4	18	22056718	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	14976744	22056718	56020530	203	44920											
ZNF521	25925	broad.mit.edu	37	chr18	22804737	22804737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtctgaactgcagaccCattccctgtcttttgcatgt	6	15	9	11	0	2	2	0	1	2	1	3	2	3	2	2	1	3	2	2	1	1	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr18:22804737C>A	ENST00000361524.3	-	4	3293	c.3145G>T	c.(3145-3147)Ggg>Tgg	p.G1049W	ZNF521_ENST00000538137.2_Missense_Mutation_p.G1049W|ZNF521_ENST00000584787.1_Missense_Mutation_p.G829W	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1049					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACTGCAGACCCATTCCCTGTC	0.522			T	PAX5	ALL								19	20					8.00594e-06	9.66331e-06	1	0	A	22804737	C	A	22804737	3	1	250	1	0	0	0	0	1	0	0	0	18060	594	21	4	810	4	ZNF521	18	22804737	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	748019	22804737	55272511	204	44921											
CD226	10666	broad.mit.edu	37	chr18	67614187	67614187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggctatggaatcctgctgGgtcccgatcttgaaccactc	8	11	10	12	1	1	1	0	1	1	0	4	3	3	2	3	3	2	2	3	3	3	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr18:67614187G>A	ENST00000280200.4	-	3	433	c.165C>T	c.(163-165)acC>acT	p.T55T	CD226_ENST00000577287.1_Intron|CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Silent_p.T55T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	55	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AATCCTGCTGGGTCCCGATCT	0.463													21	15					0	0	0	0	A	67614187	G	A	67614187	2	1	250	1	0	0	0	0	0	0	0	1	3015	1219	43	4		4	CD226	18	67614187	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	44809450	67614187	10463061	205	44922											
SAFB2	9667	broad.mit.edu	37	chr19	5598876	5598876	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatttatccatcacgaccgtCcgctccattcctctgcttcc	6	13	5	17	3	2	0	1	0	1	0	7	2	7	0	6	0	1	2	6	0	1	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:5598876C>G	ENST00000252542.4	-	13	1974	c.1710G>C	c.(1708-1710)cgG>cgC	p.R570R		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCACGACCGTCCGCTCCATTC	0.507													26	48					0	0	0	0	G	5598876	C	G	5598876	2	3	250	1	0	0	0	0	0	0	0	1	13892	842	30	2		2	SAFB2	19	5598876	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08		5598876	53530107	206	44923											
DUS3L	56931	broad.mit.edu	37	chr19	5786796	5786796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctggcggcctgcacgcactCctcgatgtactgccagtcgg	5	8	13	15	4	0	0	0	0	0	0	3	1	1	0	3	3	3	4	3	3	1	1			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:5786796C>T	ENST00000309061.7	-	9	1546	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	DUS3L_ENST00000320699.8_Missense_Mutation_p.E242K	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	484					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGCACGCACTCCTCGATGTAC	0.667													19	33					0	0	0	0	T	5786796	C	T	5786796	3	4	250	1	0	0	0	0	1	0	0	0	4843	864	30	2	522	2	DUS3L	19	5786796	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	187920	5786796	53342187	207	44924											
MUC16	94025	broad.mit.edu	37	chr19	9000496	9000496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctagagccagggtgatgCatgttctcctcataccgcag	8	12	10	11	1	3	2	1	1	2	1	4	2	3	2	3	1	3	3	3	1	2	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:9000496C>A	ENST00000397910.4	-	54	40691	c.40488G>T	c.(40486-40488)atG>atT	p.M13496I	MUC16_ENST00000380951.5_Missense_Mutation_p.M137I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13498	SEA 10.				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						CAGGGTGATGCATGTTCTCCT	0.478													33	66					9.65021e-13	1.30696e-12	1	0	A	9000496	C	A	9000496	3	1	250	1	0	0	0	0	1	0	0	0	10043	710	25	4	3159	4	MUC16	19	9000496	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	3213700	9000496	50128487	208	44925											
ZNF560	147741	broad.mit.edu	37	chr19	9577562	9577562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaaaggaatttccacatgcGttacattcagaggtcttctc	11	12	8	10	2	3	1	1	0	2	1	5	3	4	2	1	2	2	1	1	2	3	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:9577562G>A	ENST00000301480.4	-	10	2274	c.2061C>T	c.(2059-2061)aaC>aaT	p.N687N		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTCCACATGCGTTACATTCAG	0.373													69	111					0	0	0	0	A	9577562	G	A	9577562	2	1	250	1	0	0	0	0	0	0	0	1	18086	1136	40	1		1	ZNF560	19	9577562	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	577066	9577562	49551421	209	44926											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10221511	10221511	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgatgacatcgagtatttCtgccaggcggtgggcgaggc	8	9	16	8	3	1	2	0	2	1	0	2	5	1	2	1	4	1	1	1	4	1	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:10221511C>T	ENST00000428358.1	+	11	1342	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	PPAN_ENST00000253107.7_Silent_p.F390F|PPAN_ENST00000393793.1_Silent_p.F337F|PPAN_ENST00000556468.1_Silent_p.F390F|PPAN-P2RY11_ENST00000393796.4_Silent_p.F390F	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		390					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TCGAGTATTTCTGCCAGGCGG	0.607													67	140					0	0	0	0	T	10221511	C	T	10221511	2	4	250	1	0	0	0	0	0	0	0	1	12360	912	32	2		2	PPAN-P2RY11	19	10221511	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	643949	10221511	48907472	210	44927											
KRI1	65095	broad.mit.edu	37	chr19	10665770	10665770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcactgcttactcttctcGgcagagtgacttgaagacct	9	11	9	12	1	2	4	0	2	2	2	3	4	2	4	1	1	3	3	1	1	2	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:10665770G>C	ENST00000312962.6	-	18	1811	c.1792C>G	c.(1792-1794)Cga>Gga	p.R598G	KRI1_ENST00000361821.5_Missense_Mutation_p.R594G	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	598										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			tactcttctCGGCAGAGTGAC	0.592													25	39					0	0	0	0	C	10665770	G	C	10665770	3	2	250	1	0	0	0	0	1	0	0	0	8496	1124	39	3	345	3	KRI1	19	10665770	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	444259	10665770	48463213	211	44928											
ZNF878	729747	broad.mit.edu	37	chr19	12155285	12155285	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accacatagcttacactcatAgggtttctctccagtgtgtt	9	14	7	11	0	2	0	1	0	1	0	4	0	3	0	2	1	2	3	2	1	3	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:12155285A>G	ENST00000602107.1	-	5	1071	c.1072T>C	c.(1072-1074)Tat>Cat	p.Y358H	CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.Y311H|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron			C9JN71	ZN878_HUMAN	zinc finger protein 878	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TTACACTCATAGGGTTTCTCT	0.403													33	74					0	0	0	0	G	12155285	A	G	12155285	3	3	250	1	0	0	0	0	1	0	0	0	18289	420	15	5	668	5	ZNF878	19	12155285	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	1489515	12155285	46973698	212	44929											
NANOS3	342977	broad.mit.edu	37	chr19	13988559	13988561	+	In_Frame_Del	DEL	GAG	GAG	-																															acaggacacaggccaccgccGaggaggaggaggaggagcag																										TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:13988559_13988561delGAG	ENST00000397555.2	+	2	440_442	c.440_442delGAG	c.(439-444)cga>c	p.RG147del	NANOS3_ENST00000339133.5_In_Frame_Del_p.RG166del|NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000591161.1_5'UTR	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	147					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	p.G171delG(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCACCGCCGAGGAGGAGGAGG	0.645													3	4	---	---	---	---					-	13988561	GAG	-	13988559	7	5	250	1	0	1	0	1	0	0	0	0	10223	1058	37	0	499	0	NANOS3	19	13988559	In_Frame_Del	DEL	GAG	TCGA-CV-6935-01A-11D-1912-08	1833274	13988559	45140424	213	44930											
CYP4F22	126410	broad.mit.edu	37	chr19	15651373	15651373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaccgctcggcggatgggCggaggttccggcaggcctgt	5	7	17	12	5	0	0	0	0	0	0	2	2	1	2	3	7	1	3	3	7	1	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:15651373C>T	ENST00000269703.2	+	8	983	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R262W	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	262						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GGCGGATGGGCGGAGGTTCCG	0.607													29	90					0	0	0	0	T	15651373	C	T	15651373	3	4	250	1	0	0	0	0	1	0	0	0	4221	759	27	1	806	1	CYP4F22	19	15651373	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	1662814	15651373	43477610	214	44931											
UNC13A	23025	broad.mit.edu	37	chr19	17728564	17728564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcaggtcggtggcctgcGtgtagagcgacagggcatag	8	8	17	8	3	0	1	0	0	0	1	1	2	0	1	1	4	3	3	1	4	3	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:17728564G>A	ENST00000428389.2	-	42	4768	c.4769C>T	c.(4768-4770)aCg>aTg	p.T1590M	UNC13A_ENST00000551649.1_Missense_Mutation_p.T1502M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T1477M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1475M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T1502M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T1502M			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1502	C2 3.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGTGGCCTGCGTGTAGAGCGA	0.607													50	72					0	0	0	0	A	17728564	G	A	17728564	3	1	250	1	0	0	0	0	1	0	0	0	17080	1145	40	1	622	1	UNC13A	19	17728564	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	2077191	17728564	41400419	215	44932											
DYRK1B	9149	broad.mit.edu	37	chr19	40321360	40321360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagcttacgcagcggggCtgaggttgcatcccggaagg	9	6	17	9	3	0	2	0	1	0	1	1	4	1	3	1	5	4	5	1	5	2	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:40321360C>T	ENST00000593685.1	-	3	595	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	DYRK1B_ENST00000348817.3_Missense_Mutation_p.A43T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A43T|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A43T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A43T|DYRK1B_ENST00000601972.1_Missense_Mutation_p.A43T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	43					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CGCAGCGGGGCTGAGGTTGCA	0.642													30	42					0	0	0	0	T	40321360	C	T	40321360	3	4	250	1	0	0	0	0	1	0	0	0	4891	797	28	4	1798	4	DYRK1B	19	40321360	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	22592796	40321360	18807623	216	44933											
ZNF226	7769	broad.mit.edu	37	chr19	44680226	44680226	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccagctttgatcttcatCagcagttacaatcaggagag	11	12	8	10	0	5	2	3	1	2	1	6	3	5	2	1	1	3	3	1	1	2	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:44680226C>T	ENST00000590089.1	+	7	1178	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Nonsense_Mutation_p.Q271*|ZNF226_ENST00000454662.2_Nonsense_Mutation_p.Q271*			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TGATCTTCATCAGCAGTTACA	0.423													23	42					0	0	0	0	T	44680226	C	T	44680226	4	4	250	1	0	0	0	0	0	1	0	0	17875	827	29	2	879	2	ZNF226	19	44680226	Nonsense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	4358866	44680226	14448757	217	44934											
ZNF233	353355	broad.mit.edu	37	chr19	44778658	44778658	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcatcagaggatccacacGggagagaaaccctataaatg	15	7	10	9	1	2	2	2	0	0	2	3	5	3	4	2	2	1	1	2	2	4	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:44778658G>T	ENST00000391958.2	+	5	1972	c.1845G>T	c.(1843-1845)acG>acT	p.T615T	ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Silent_p.T597T	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GGATCCACACGGGAGAGAAAC	0.438													38	56					1.06647e-15	1.50974e-15	1	0	T	44778658	G	T	44778658	2	4	250	1	0	0	0	0	0	0	0	1	17881	1103	39	3		3	ZNF233	19	44778658	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08	98432	44778658	14350325	218	44935											
FCAR	2204	broad.mit.edu	37	chr19	55396680	55396680	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttcatatctgccaaatCgagtcctgtgattcccttgg	7	14	8	12	1	2	1	1	1	1	0	5	2	4	1	4	1	1	0	4	1	2	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:55396680C>A	ENST00000355524.3	+	3	114	c.104C>A	c.(103-105)tCg>tAg	p.S35*	FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Nonsense_Mutation_p.S35*|FCAR_ENST00000391723.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391725.3_Nonsense_Mutation_p.S35*|FCAR_ENST00000391726.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000359272.4_Nonsense_Mutation_p.S23*|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391724.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000469767.1_Nonsense_Mutation_p.S35*	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	35					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.S35L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCTGCCAAATCGAGTCCTGTG	0.498													22	34					3.62473e-10	4.70531e-10	1	0	A	55396680	C	A	55396680	4	1	250	1	0	0	0	0	0	1	0	0	5818	893	31	3	114	3	FCAR	19	55396680	Nonsense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	10618022	55396680	3732303	219	44936											
ZIM3	114026	broad.mit.edu	37	chr19	57646307	57646307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatctggagtgaattcttttCtggtgcctaacaaggtatga	10	15	10	6	0	3	2	0	2	3	0	3	3	3	3	1	3	2	1	1	3	5	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:57646307C>T	ENST00000269834.1	-	5	1783	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAATTCTTTTCTGGTGCCTAA	0.428													49	70					0	0	0	0	T	57646307	C	T	57646307	2	4	250	1	0	0	0	0	0	0	0	1	17780	912	32	2		2	ZIM3	19	57646307	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	2249627	57646307	1482676	220	44937											
ZNF776	284309	broad.mit.edu	37	chr19	58265188	58265188	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccttcaccagagacttctCcctagagaaggaccttatgt	10	11	8	12	0	2	2	1	0	1	2	4	5	3	3	4	1	0	0	4	1	3	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:58265188C>A	ENST00000317178.5	+	3	953	c.690C>A	c.(688-690)ctC>ctA	p.L230L		NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		AGAGACTTCTCCCTAGAGAAG	0.418													38	69					1.04594e-18	1.53762e-18	1	0	A	58265188	C	A	58265188	2	1	250	1	0	0	0	0	0	0	0	1	18242	842	30	2		2	ZNF776	19	58265188	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	618881	58265188	863795	221	44938											
HAO1	54363	broad.mit.edu	37	chr20	7895010	7895010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagcttccgccacttcttCaattgaggaggtggcccagg	8	9	11	13	1	2	1	1	1	1	0	3	2	3	2	4	4	1	1	4	4	1	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr20:7895010C>T	ENST00000378789.3	-	3	397	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	116	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCCACTTCTTCAATTGAGGAG	0.532													14	36					0	0	0	0	T	7895010	C	T	7895010	3	4	250	1	0	0	0	0	1	0	0	0	7001	835	29	2	790	2	HAO1	20	7895010	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08		7895010	55130510	222	44939											
MRPL39	54148	broad.mit.edu	37	chr21	26960033	26960033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctgagactgttccatggagGaggtacgactcaggcgaggt	9	9	15	8	2	2	1	1	1	1	1	3	6	3	3	1	5	1	2	1	5	1	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:26960033G>A	ENST00000307301.7	-	10	1079	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	MRPL39_ENST00000352957.4_Intron	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	0						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TTCCATGGAGGAGGTACGACT	0.348													15	38					0	0	0	0	A	26960033	G	A	26960033	2	1	250	1	0	0	0	0	0	0	0	1	9872	1161	41	2		2	MRPL39	21	26960033	Silent	SNP	G	TCGA-CV-6935-01A-11D-1912-08		26960033	21169862	223	44940											
KRTAP27-1	643812	broad.mit.edu	37	chr21	31709388	31709388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tactaggcaattgagaaccaCcagtaacacagcaagttggt	15	8	9	9	0	0	1	0	1	0	1	0	2	0	1	2	2	4	4	2	2	6	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:31709388C>A	ENST00000382835.2	-	1	624	c.599G>T	c.(598-600)gGt>gTt	p.G200V		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	200						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TTGAGAACCACCAGTAACACA	0.408													14	29					0.000219431	0.000259397	1	0	A	31709388	C	A	31709388	3	1	250	1	0	0	0	0	1	0	0	0	8597	507	18	4	28	4	KRTAP27-1	21	31709388	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	4749355	31709388	16420507	224	44941											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253706	32253706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagccaagagccagtctgGaaggaactgggcaaacagat	15	4	14	8	0	1	2	0	0	1	2	1	5	1	5	2	4	4	1	2	4	4	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:32253706G>T	ENST00000332378.4	-	1	168	c.138C>A	c.(136-138)ttC>ttA	p.F46L		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	46						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGCCAGTCTGGAAGGAACTGG	0.582													24	39					6.21321e-17	8.86865e-17	1	0	T	32253706	G	T	32253706	3	4	250	1	0	0	0	0	1	0	0	0	8569	1165	41	2	357	2	KRTAP11-1	21	32253706	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	544318	32253706	15876189	225	44942											
TIAM1	7074	broad.mit.edu	37	chr21	32554912	32554912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatagaagagttcagggCgtcagcagcacgattattga	13	8	13	7	2	2	3	2	1	0	2	2	5	2	3	0	1	3	4	0	1	3	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:32554912C>T	ENST00000286827.3	-	16	3184	c.2713G>A	c.(2713-2715)Gcc>Acc	p.A905T	TIAM1_ENST00000541036.1_Missense_Mutation_p.A845T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	905	PDZ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GAGTTCAGGGCGTCAGCAGCA	0.498													5	63					0	0	0	0	T	32554912	C	T	32554912	3	4	250	1	0	0	0	0	1	0	0	0	15984	768	27	1	2118	1	TIAM1	21	32554912	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	301206	32554912	15574983	226	44943											
HSF2BP	11077	broad.mit.edu	37	chr21	45076541	45076541	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctgggtaagaagtcccgTatttgcatcacttcagttgt	9	15	9	8	1	3	1	2	0	1	1	4	1	4	1	1	1	1	4	1	1	3	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:45076541T>A	ENST00000291560.2	-	3	445	c.114A>T	c.(112-114)atA>atT	p.I38I	HSF2BP_ENST00000542962.1_Intron	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	38					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		AGAAGTCCCGTATTTGCATCA	0.393													39	51					0	0	0	0	A	45076541	T	A	45076541	2	1	250	1	0	0	0	0	0	0	0	1	7447	1628	57	5		5	HSF2BP	21	45076541	Silent	SNP	T	TCGA-CV-6935-01A-11D-1912-08	12521629	45076541	3053354	227	44944											
COL6A2	1292	broad.mit.edu	37	chr21	47552400	47552400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgcgccgccgtgttccaCgagaaggactatgacagcct	9	6	12	14	5	0	2	0	1	0	1	1	5	1	3	5	1	1	1	5	1	2	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:47552400C>A	ENST00000300527.4	+	28	3098	c.2994C>A	c.(2992-2994)caC>caA	p.H998Q		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	998	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGTGTTCCACGAGAAGGACT	0.677													7	18					8.12818e-05	9.70866e-05	1	0	A	47552400	C	A	47552400	3	1	250	1	0	0	0	0	1	0	0	0	3730	535	19	3	3430	3	COL6A2	21	47552400	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	2475859	47552400	577495	228	44945											
MYO18B	84700	broad.mit.edu	37	chr22	26242186	26242186	+	Missense_Mutation	SNP	C	C	A																															gagccgcatggtgaggaggaCctttgccagcagccttgccg																										TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr22:26242186C>A	ENST00000335473.7	+	19	3738	c.3488C>A	c.(3487-3489)aCc>aAc	p.T1163N	MYO18B_ENST00000407587.2_Missense_Mutation_p.T1164N|MYO18B_ENST00000536101.1_Missense_Mutation_p.T1163N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1163	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTGAGGAGGACCTTTGCCAGC	0.667													27	36					1.04121e-07	1.30722e-07	1	0	A	26242186	C	A	26242186	3	1	250	1	0	0	0	0	1	0	0	0	10136	507	18	4	3558	4	MYO18B	22	26242186	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08		26242186	25062380	229	44946	342	2									
MYO18B	84700	broad.mit.edu	37	chr22	26242187	26242187	+	Silent	SNP	C	C	A																															agccgcatggtgaggaggacCtttgccagcagccttgccgc																										TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr22:26242187C>A	ENST00000335473.7	+	19	3739	c.3489C>A	c.(3487-3489)acC>acA	p.T1163T	MYO18B_ENST00000407587.2_Silent_p.T1164T|MYO18B_ENST00000536101.1_Silent_p.T1163T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1163	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGAGGAGGACCTTTGCCAGCA	0.672													27	36					1.04121e-07	1.30722e-07	1	0	A	26242187	C	A	26242187	2	1	250	1	0	0	0	0	0	0	0	1	10136	668	24	4		4	MYO18B	22	26242187	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	1	26242187	25062379	230	44947	342	2									
CNKSR2	22866	broad.mit.edu	37	chrX	21627262	21627262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagacttctcagtctcagtCttctcatgaggagtttcgcc	7	13	10	11	1	4	2	3	1	4	1	8	4	4	3	1	2	0	1	1	2	0	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:21627262C>G	ENST00000425654.2	+	19	2609	c.2129C>G	c.(2128-2130)tCt>tGt	p.S710C	CNKSR2_ENST00000379510.3_Missense_Mutation_p.S740C|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S691C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S740C	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	740					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CAGTCTCAGTCTTCTCATGAG	0.517													34	10					0	0	0	0	G	21627262	C	G	21627262	3	3	250	1	0	0	0	0	1	0	0	0	3637	913	32	2	2297	2	CNKSR2	23	21627262	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08		21627262	133643298	231	44948											
MBTPS2	51360	broad.mit.edu	37	chrX	21869684	21869684	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcttcacggcagttctcAttagtggtgttgtacatgaa	9	16	9	7	1	3	1	2	1	2	0	4	1	3	1	0	2	1	4	0	2	3	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:21869684A>T	ENST00000365779.2	+	4	577	c.496A>T	c.(496-498)Att>Ttt	p.I166F	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Missense_Mutation_p.I166F			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	166					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGCAGTTCTCATTAGTGGTGT	0.373													5	78					0	0	0	0	T	21869684	A	T	21869684	3	4	250	1	0	0	0	0	1	0	0	0	9431	217	8	5	510	5	MBTPS2	23	21869684	Missense_Mutation	SNP	A	TCGA-CV-6935-01A-11D-1912-08	242422	21869684	133400876	232	44949											
DMD	1756	broad.mit.edu	37	chrX	32328320	32328320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgatttcagtcaaataaGtagaaggcacataagaaatt	18	10	9	4	0	2	3	2	1	0	2	2	4	2	3	0	1	0	2	0	1	6	5			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:32328320G>A	ENST00000357033.4	-	42	6202	c.5996C>T	c.(5995-5997)aCt>aTt	p.T1999I	DMD_ENST00000378677.2_Missense_Mutation_p.T1995I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1999					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTCAAATAAGTAGAAGGCAC	0.393													21	7					0	0	0	0	A	32328320	G	A	32328320	3	1	250	1	0	0	0	0	1	0	0	0	4617	1029	36	4	5361	4	DMD	23	32328320	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	10458636	32328320	122942240	233	44950											
DMD	1756	broad.mit.edu	37	chrX	32404497	32404497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttctttgggattttccGtctgctttttctgtacaatc	6	19	7	9	1	3	0	0	0	3	0	5	1	4	1	1	1	2	3	1	1	3	7			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:32404497G>T	ENST00000357033.4	-	33	4810	c.4604C>A	c.(4603-4605)aCg>aAg	p.T1535K	DMD_ENST00000378677.2_Missense_Mutation_p.T1531K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1535	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGGATTTTCCGTCTGCTTTTT	0.383													49	13					2.43139e-17	3.485e-17	1	0	T	32404497	G	T	32404497	3	4	250	1	0	0	0	0	1	0	0	0	4617	1145	40	3	6789	3	DMD	23	32404497	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	76177	32404497	122866063	234	44951											
KDM6A	7403	broad.mit.edu	37	chrX	44938390	44938390	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacatttatgtattcatgaaGacctgggacttttctctact	10	17	6	8	0	2	2	1	1	1	1	3	3	2	3	1	1	2	1	1	1	5	8			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:44938390G>C	ENST00000377967.4	+	20	2979		c.e20-1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TATTCATGAAGACCTGGGACT	0.328			"D, N, F, S"		"renal, oesophageal SCC, MM"								11	1					0	0	0	0	C	44938390	G	C	44938390	5	2	250	1	0	0	0	0	0	0	1	0	8189	956	33	2	3016	2	KDM6A	23	44938390	Splice_Site	SNP	G	TCGA-CV-6935-01A-11D-1912-08	12533893	44938390	110332170	235	44952											
PCDH11X	27328	broad.mit.edu	37	chrX	91090459	91090459	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctcttcttttggtcaGtgttgtgcgggttaatacaa	6	17	9	9	1	4	0	1	0	3	0	5	0	4	0	1	2	2	2	1	2	3	6			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:91090459G>T	ENST00000395337.2	+	4	589		c.e4-1		PCDH11X_ENST00000361724.1_5'UTR|PCDH11X_ENST00000373097.1_5'UTR|PCDH11X_ENST00000373094.1_5'UTR	NM_032967.2	NP_116749.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked						homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTTTGGTCAGTGTTGTGCGG	0.403													38	11					1.96642e-18	2.8785e-18	1	0	T	91090459	G	T	91090459	5	4	250	1	0	0	0	0	0	0	1	0	11579	1043	36	4		4	PCDH11X	23	91090459	Splice_Site	SNP	G	TCGA-CV-6935-01A-11D-1912-08	46152069	91090459	64180101	236	44953											
DRP2	1821	broad.mit.edu	37	chrX	100494001	100494001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagtcaagtctcggggccCctacatctattctgtgctgg	8	11	11	11	1	4	1	1	0	3	1	5	1	4	1	2	3	2	1	2	3	4	3			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:100494001C>T	ENST00000395209.3	+	6	997	c.470C>T	c.(469-471)cCc>cTc	p.P157L	DRP2_ENST00000541709.1_Missense_Mutation_p.P79L|DRP2_ENST00000402866.1_Missense_Mutation_p.P157L|DRP2_ENST00000538510.1_Missense_Mutation_p.P157L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	157					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TCTCGGGGCCCCTACATCTAT	0.463													58	16					0	0	0	0	T	100494001	C	T	100494001	3	4	250	1	0	0	0	0	1	0	0	0	4800	623	22	4	484	4	DRP2	23	100494001	Missense_Mutation	SNP	C	TCGA-CV-6935-01A-11D-1912-08	9403542	100494001	54776559	237	44954											
CAPN6	827	broad.mit.edu	37	chrX	110491846	110491846	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggagaaactcgctggTgcgaccatgctggaacatgg	10	8	13	10	2	1	1	1	0	1	1	3	4	1	2	1	4	4	2	1	4	2	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:110491846T>G	ENST00000324068.1	-	10	1602	c.1435A>C	c.(1435-1437)Acc>Ccc	p.T479P	CAPN6_ENST00000541758.1_Missense_Mutation_p.T224P	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	479	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AACTCGCTGGTGCGACCATGC	0.502													15	4					0	0	0	0	G	110491846	T	G	110491846	3	3	250	1	0	0	0	0	1	0	0	0	2655	1696	59	5	506	5	CAPN6	23	110491846	Missense_Mutation	SNP	T	TCGA-CV-6935-01A-11D-1912-08	9997845	110491846	44778714	238	44955											
ALG13	79868	broad.mit.edu	37	chrX	110924494	110924494	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaccagctttgacgacctCattgcgtgtgtgtcggcgcc	6	10	11	14	4	1	1	1	1	0	0	2	2	1	1	4	1	2	1	4	1	0	2			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:110924494C>T	ENST00000394780.3	+	1	60	c.48C>T	c.(46-48)ctC>ctT	p.L16L	ALG13_ENST00000371979.3_Silent_p.L16L|ALG13_ENST00000251943.4_5'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	16					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						TTGACGACCTCATTGCGTGTG	0.632													123	30					0	0	0	0	T	110924494	C	T	110924494	2	4	250	1	0	0	0	0	0	0	0	1	515	813	29	2		2	ALG13	23	110924494	Silent	SNP	C	TCGA-CV-6935-01A-11D-1912-08	432648	110924494	44346066	239	44956											
SPANXN2	494119	broad.mit.edu	37	chrX	142795413	142795413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatccttcagctgagtctaGgccttcgtcctcctcctctt	5	14	7	15	1	3	2	1	1	2	1	8	2	7	2	5	1	1	1	5	1	1	4			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:142795413G>T	ENST00000370498.1	-	2	1018	c.265C>A	c.(265-267)Cta>Ata	p.L89I		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	89										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGAGTCTAGGCCTTCGTCC	0.488													252	73					9.62967e-114	1.60806e-113	1	0	T	142795413	G	T	142795413	3	4	250	1	0	0	0	0	1	0	0	0	15081	991	35	4	281	4	SPANXN2	23	142795413	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	31870919	142795413	12475147	240	44957											
AFF2	2334	broad.mit.edu	37	chrX	148072769	148072769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatctggacacgctgatGgggcctctgacccagcacag	8	7	14	12	1	2	3	0	3	2	0	2	4	2	4	2	4	1	2	2	4	0	0			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:148072769G>T	ENST00000370460.2	+	21	4322	c.3843G>T	c.(3841-3843)atG>atT	p.M1281I	AFF2_ENST00000342251.3_Missense_Mutation_p.M1248I|AFF2_ENST00000286437.5_Missense_Mutation_p.M922I|AFF2_ENST00000370457.5_Missense_Mutation_p.M1246I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1281					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACACGCTGATGGGGCCTCTGA	0.493													62	18					2.02796e-37	3.30625e-37	1	0	T	148072769	G	T	148072769	3	4	250	1	0	0	0	0	1	0	0	0	357	1348	47	4	3980	4	AFF2	23	148072769	Missense_Mutation	SNP	G	TCGA-CV-6935-01A-11D-1912-08	5277356	148072769	7197791	241	44958											
AGRN	375790	broad.mit.edu	37	chr1	978800	978800	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggccacggcctgtaccctCgggcgggagatccaggtggc	6	5	17	13	3	0	1	0	0	0	1	2	3	1	1	4	6	1	1	4	6	1	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:978800C>T	ENST00000379370.2	+	8	1616	c.1566C>T	c.(1564-1566)ctC>ctT	p.L522L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	522	Kazal-like 5.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCTGTACCCTCGGGCGGGAGA	0.682													5	16					0	0	0	0	T	978800	C	T	978800	2	4	251	1	0	0	0	0	0	0	0	1	397	871	31	1		1	AGRN	1	978800	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08		978800	248271821	1	44959											
PER3	8863	broad.mit.edu	37	chr1	7896001	7896001	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgacataccaggtacctGagaggtaagaaagcacttta	15	9	9	8	0	1	3	1	2	0	2	1	4	1	3	2	2	3	3	2	2	5	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:7896001G>C	ENST00000377532.3	+	19	3618	c.3394G>C	c.(3394-3396)Gag>Cag	p.E1132Q	PER3_ENST00000361923.2_Missense_Mutation_p.E1123Q			P56645	PER3_HUMAN	period circadian clock 3	1123	CRY binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTACCTGAGAGGTAAGA	0.413													4	39					0	0	0	0	C	7896001	G	C	7896001	3	2	251	1	0	0	0	0	1	0	0	0	11802	1291	45	2	3441	2	PER3	1	7896001	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	6917201	7896001	241354620	2	44960											
FBXO42	54455	broad.mit.edu	37	chr1	16641805	16641805	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgtctagtctcctcagcctCcaatactgggtggggctcct	6	12	10	13	0	3	0	1	0	2	0	6	0	5	0	4	3	2	1	4	3	3	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:16641805C>G	ENST00000375592.3	-	2	325	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	37										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TCCTCAGCCTCCAATACTGGG	0.498													5	52					0	0	0	0	G	16641805	C	G	16641805	3	3	251	1	0	0	0	0	1	0	0	0	5796	864	30	2	2080	2	FBXO42	1	16641805	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	8745804	16641805	232608816	3	44961											
PADI2	11240	broad.mit.edu	37	chr1	17397918	17397918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacctggaagtacaggttctCctgcacaaggctctcgttgg	8	10	11	12	1	2	0	0	0	2	0	4	1	2	1	2	4	2	5	2	4	3	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:17397918C>T	ENST00000375486.4	-	14	1681	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.E424K	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	540					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TACAGGTTCTCCTGCACAAGG	0.597													15	39					0	0	0	0	T	17397918	C	T	17397918	3	4	251	1	0	0	0	0	1	0	0	0	11449	864	30	2	391	2	PADI2	1	17397918	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	756113	17397918	231852703	4	44962											
PADI4	23569	broad.mit.edu	37	chr1	17662722	17662722	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagagctgtgaaagatcagGtaccactcacccaaacgctc	13	6	8	14	1	2	3	2	1	0	2	3	3	2	3	3	1	3	3	3	1	3	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:17662722G>A	ENST00000375448.4	+	4	434		c.e4+1		AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV						chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GAAAGATCAGGTACCACTCAC	0.547											OREG0013149	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	26					0	0	0	0	A	17662722	G	A	17662722	5	1	251	1	0	0	0	0	0	0	1	0	11451	1275	44	4	423	4	PADI4	1	17662722	Splice_Site	SNP	G	TCGA-CV-6936-01A-11D-1912-08	264804	17662722	231587899	5	44963											
TMCO4	255104	broad.mit.edu	37	chr1	20107215	20107215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagctaccagaggctgctGaggcagcctctggcatggcc	7	7	13	14	0	2	2	1	1	1	1	2	2	2	2	3	4	4	5	3	4	1	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:20107215G>C	ENST00000294543.6	-	4	278	c.37C>G	c.(37-39)Cag>Gag	p.Q13E	TMCO4_ENST00000375127.1_Missense_Mutation_p.Q13E|TMCO4_ENST00000375122.2_Missense_Mutation_p.Q13E	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	13						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGAGGCTGCTGAGGCAGCCTC	0.607													7	29					0	0	0	0	C	20107215	G	C	20107215	3	2	251	1	0	0	0	0	1	0	0	0	16092	1299	45	2	1919	2	TMCO4	1	20107215	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	2444493	20107215	229143406	6	44964											
TMEM57	55219	broad.mit.edu	37	chr1	25810760	25810760	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggagaacgagctgctgcaGaacaagtacgtgcacctttc	12	7	11	11	2	0	2	0	0	0	2	1	4	0	2	1	1	7	5	1	1	4	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:25810760G>A	ENST00000374343.4	+	7	1487	c.1308G>A	c.(1306-1308)caG>caA	p.Q436Q	TMEM57_ENST00000399763.3_Silent_p.Q78Q|TMEM57_ENST00000399766.3_Silent_p.Q209Q	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	436						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGCTGCAGAACAAGTACG	0.572													15	40					0	0	0	0	A	25810760	G	A	25810760	2	1	251	1	0	0	0	0	0	0	0	1	16278	933	33	2		2	TMEM57	1	25810760	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	5703545	25810760	223439861	7	44965											
AHDC1	27245	broad.mit.edu	37	chr1	27875878	27875878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggaaggtctggcgcgCggacaggacaggctgaaagg	9	5	20	7	3	1	1	0	1	1	0	1	4	1	4	0	8	0	1	0	8	2	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:27875878C>T	ENST00000374011.2	-	6	3717	c.2749G>A	c.(2749-2751)Gcg>Acg	p.A917T	AHDC1_ENST00000247087.5_Missense_Mutation_p.A917T|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	917							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCTGGCGCGCGGACAGGACA	0.697													16	43					0	0	0	0	T	27875878	C	T	27875878	3	4	251	1	0	0	0	0	1	0	0	0	412	768	27	1	2066	1	AHDC1	1	27875878	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	2065118	27875878	221374743	8	44966											
MACF1	23499	broad.mit.edu	37	chr1	39749116	39749116	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccagatgaaaagtctgtaAtcacttatgtgtcttcgatt	11	15	7	8	1	3	2	1	1	2	1	5	3	4	2	1	0	0	1	1	0	4	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:39749116A>G	ENST00000564288.1	+	9	1621	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	MACF1_ENST00000361689.2_Missense_Mutation_p.I287V|MACF1_ENST00000317713.7_Missense_Mutation_p.I287V|MACF1_ENST00000372915.3_Missense_Mutation_p.I287V|MACF1_ENST00000545844.1_Missense_Mutation_p.I287V|MACF1_ENST00000539005.1_Missense_Mutation_p.I287V|MACF1_ENST00000567887.1_Missense_Mutation_p.I319V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	287	Actin-binding.|CH 2.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGTCTGTAATCACTTATGT	0.418													13	37					0	0	0	0	G	39749116	A	G	39749116	3	3	251	1	0	0	0	0	1	0	0	0	9209	101	4	5	889	5	MACF1	1	39749116	Missense_Mutation	SNP	A	TCGA-CV-6936-01A-11D-1912-08	11873238	39749116	209501505	9	44967											
PABPC4	8761	broad.mit.edu	37	chr1	40027815	40027815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtctatctccagcagcattCccgtgatcttcccagccaga	8	11	7	15	1	3	2	0	1	3	1	6	2	5	2	4	0	3	2	4	0	1	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:40027815C>T	ENST00000372857.3	-	14	2567	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	PABPC4_ENST00000372858.3_Missense_Mutation_p.G608E|PABPC4_ENST00000372862.3_Missense_Mutation_p.G563E|PABPC4_ENST00000372856.3_Missense_Mutation_p.G579E	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	592	PABC.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGCAGCATTCCCGTGATCTT	0.498													7	28					0	0	0	0	T	40027815	C	T	40027815	3	4	251	1	0	0	0	0	1	0	0	0	11437	855	30	2	167	2	PABPC4	1	40027815	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	278699	40027815	209222806	10	44968											
NSUN4	387338	broad.mit.edu	37	chr1	46826430	46826430	+	Frame_Shift_Del	DEL	A	A	-																															actcccttcatgaggaggagAacaacatctttaagcggtca																										TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:46826430delA	ENST00000474844.1	+	5	1458	c.808delA	c.(808-810)acfs	p.N271fs	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Frame_Shift_Del_p.N222fs|NSUN4_ENST00000537428.1_Frame_Shift_Del_p.N222fs	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	271							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TGAGGAGGAGAACAACATCTT	0.473													41	80	---	---	---	---					-	46826430	A	-	46826430	7	5	251	1	0	1	0	1	0	0	0	0	10751	246	9	0	826	0	NSUN4	1	46826430	Frame_Shift_Del	DEL	A	TCGA-CV-6936-01A-11D-1912-08	6798615	46826430	202424191	11	44969											
LEPR	3953	broad.mit.edu	37	chr1	66101929	66101929	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatcagtgacatgtggtcCtcttcttttggagcctgaaa	9	13	10	9	0	3	2	1	2	2	0	4	3	4	3	2	2	2	1	2	2	1	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:66101929C>A	ENST00000349533.6	+	20	2914	c.2729C>A	c.(2728-2730)cCt>cAt	p.P910H	LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	910					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ACATGTGGTCCTCTTCTTTTG	0.348													39	96					7.63091e-17	1.58434e-16	1	0	A	66101929	C	A	66101929	3	1	251	1	0	0	0	0	1	0	0	0	8781	681	24	4	3029	4	LEPR	1	66101929	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	19275499	66101929	183148692	12	44970											
CHI3L2	1117	broad.mit.edu	37	chr1	111777615	111777615	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaggaaccataactttgatgGactggatgtaagctggatct	12	11	12	6	0	1	1	0	1	1	0	1	6	1	5	1	4	3	2	1	4	3	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:111777615G>C	ENST00000445067.2	+	7	1187	c.416G>C	c.(415-417)gGa>gCa	p.G139A	CHI3L2_ENST00000369744.2_Missense_Mutation_p.G129A|CHI3L2_ENST00000466741.1_Missense_Mutation_p.G60A|CHI3L2_ENST00000369748.4_Missense_Mutation_p.G139A|CHI3L2_ENST00000524472.1_Missense_Mutation_p.G60A			Q15782	CH3L2_HUMAN	chitinase 3-like 2	139					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		AACTTTGATGGACTGGATGTA	0.398													4	43					0	0	0	0	C	111777615	G	C	111777615	3	2	251	1	0	0	0	0	1	0	0	0	3370	1174	41	2	434	2	CHI3L2	1	111777615	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	45675686	111777615	137473006	13	44971											
PSMD4	5710	broad.mit.edu	37	chr1	151237665	151237665	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaaactggctaaacgcctCaagaaggagaaagtaaatgt	17	7	11	6	1	1	3	1	1	0	2	1	4	1	3	1	2	2	2	1	2	8	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:151237665C>G	ENST00000368884.3	+	5	473	c.393C>G	c.(391-393)ctC>ctG	p.L131L	PSMD4_ENST00000368881.4_Silent_p.L131L	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	131	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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 transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTAAACGCCTCAAGAAGGAGA	0.443													3	47					0	0	0	0	G	151237665	C	G	151237665	2	3	251	1	0	0	0	0	0	0	0	1	12779	813	29	2		2	PSMD4	1	151237665	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	39460050	151237665	98012956	14	44972											
FLG2	388698	broad.mit.edu	37	chr1	152327481	152327481	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgactgacttgagccAgaaccatgttggccatagct	11	9	10	11	0	0	5	0	3	0	2	0	5	0	5	4	1	3	2	4	1	2	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:152327481A>G	ENST00000388718.5	-	3	2853	c.2781T>C	c.(2779-2781)tcT>tcC	p.S927S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	927	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTTGAGCCAGAACCATGTT	0.488													498	306					0	0	0	0	G	152327481	A	G	152327481	2	3	251	1	0	0	0	0	0	0	0	1	5968	175	7	5		5	FLG2	1	152327481	Silent	SNP	A	TCGA-CV-6936-01A-11D-1912-08	1089816	152327481	96923140	15	44973											
ILF2	3608	broad.mit.edu	37	chr1	153636573	153636573	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagccaggaaaacgaatcctCaagtccttcagtagtctgat	14	9	8	10	1	3	1	2	1	1	0	5	3	5	2	3	1	2	1	3	1	6	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:153636573C>G	ENST00000361891.4	-	10	815	c.690G>C	c.(688-690)ttG>ttC	p.L230F	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	230	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACGAATCCTCAAGTCCTTCA	0.398													6	33					0	0	0	0	G	153636573	C	G	153636573	3	3	251	1	0	0	0	0	1	0	0	0	7764	825	29	2	502	2	ILF2	1	153636573	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	1309092	153636573	95614048	16	44974											
IL6R	3570	broad.mit.edu	37	chr1	154437818	154437818	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagggacccacggagccctTatgacatcagcaatacagac	13	5	9	14	1	1	2	1	1	0	1	1	4	1	4	3	2	3	1	3	2	3	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:154437818T>G	ENST00000368485.3	+	10	1806	c.1369T>G	c.(1369-1371)Tat>Gat	p.Y457D	IL6R_ENST00000344086.4_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	457					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACGGAGCCCTTATGACATCAG	0.577													7	128					0	0	0	0	G	154437818	T	G	154437818	3	3	251	1	0	0	0	0	1	0	0	0	7755	1754	61	5	1407	5	IL6R	1	154437818	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	801245	154437818	94812803	17	44975											
PMVK	10654	broad.mit.edu	37	chr1	154898882	154898882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctccaacgctacaacGcggaccgtctgcgtcacggc	7	7	10	17	6	3	0	1	0	2	0	4	1	4	1	2	2	5	2	2	2	3	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:154898882G>A	ENST00000368467.3	-	4	695	c.390C>T	c.(388-390)cgC>cgT	p.R130R		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	130					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACGCTACAACGCGGACCGTCT	0.627													7	73					0	0	0	0	A	154898882	G	A	154898882	2	1	251	1	0	0	0	0	0	0	0	1	12216	1074	38	1		1	PMVK	1	154898882	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	461064	154898882	94351739	18	44976											
CCT3	7203	broad.mit.edu	37	chr1	156290786	156290786	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttgatgatgttcagcatCatatcactgtcactgatgtc	9	15	8	9	0	4	3	4	3	0	0	5	3	4	3	0	0	1	3	0	0	1	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:156290786C>G	ENST00000295688.3	-	7	733	c.453G>C	c.(451-453)atG>atC	p.M151I	CCT3_ENST00000472765.2_Missense_Mutation_p.M106I|CCT3_ENST00000368259.2_Missense_Mutation_p.M113I|CCT3_ENST00000368261.3_Missense_Mutation_p.M106I	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	151					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TGTTCAGCATCATATCACTGT	0.423													8	109					0	0	0	0	G	156290786	C	G	156290786	3	3	251	1	0	0	0	0	1	0	0	0	2983	826	29	2	1216	2	CCT3	1	156290786	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	1391904	156290786	92959835	19	44977											
SPTA1	6708	broad.mit.edu	37	chr1	158641861	158641861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgttacctcttgtctactCatccaactgtccacttgctc	6	14	4	17	1	3	0	1	0	2	0	6	0	5	0	4	0	4	2	4	0	3	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:158641861C>G	ENST00000368148.3	-	11	1656	c.1476G>C	c.(1474-1476)atG>atC	p.M492I	SPTA1_ENST00000368147.3_Missense_Mutation_p.M492I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	492					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTGTCTACTCATCCAACTGT	0.498													27	116					0	0	0	0	G	158641861	C	G	158641861	3	3	251	1	0	0	0	0	1	0	0	0	15206	826	29	2	5951	2	SPTA1	1	158641861	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	2351075	158641861	90608760	20	44978											
FCRLA	84824	broad.mit.edu	37	chr1	161681748	161681748	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttccagcgccaattctcaGagctgtaccctcagctgaac	9	10	8	14	1	2	2	2	1	1	1	4	2	3	2	3	0	5	4	3	0	3	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:161681748G>C	ENST00000367959.2	+	5	835	c.593G>C	c.(592-594)aGa>aCa	p.R198T	FCRLA_ENST00000367957.2_Missense_Mutation_p.R52T|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.R181T|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.R86T|FCRLA_ENST00000294796.4_Missense_Mutation_p.R41T|FCRLA_ENST00000236938.6_Missense_Mutation_p.R192T|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000546024.1_Missense_Mutation_p.R103T|FCRLA_ENST00000540926.1_Missense_Mutation_p.R181T|FCRLA_ENST00000540521.1_Missense_Mutation_p.R58T|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	175	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCAATTCTCAGAGCTGTACCC	0.527													5	443					0	0	0	0	C	161681748	G	C	161681748	3	2	251	1	0	0	0	0	1	0	0	0	5845	942	33	2	611	2	FCRLA	1	161681748	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	3039887	161681748	87568873	21	44979											
TDRD5	163589	broad.mit.edu	37	chr1	179562647	179562647	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcttagttgcaaaacagagGagcagccataagcttcgaaa	16	7	10	8	1	0	1	0	0	0	1	1	3	0	2	1	1	6	5	1	1	5	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:179562647G>A	ENST00000444136.1	+	3	535	c.285G>A	c.(283-285)agG>agA	p.R95R	TDRD5_ENST00000367614.1_Silent_p.R95R|TDRD5_ENST00000294848.8_Silent_p.R95R	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	95	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAAAACAGAGGAGCAGCCATA	0.438													15	43					0	0	0	0	A	179562647	G	A	179562647	2	1	251	1	0	0	0	0	0	0	0	1	15827	1165	41	2		2	TDRD5	1	179562647	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	17880899	179562647	69687974	22	44980											
TPR	7175	broad.mit.edu	37	chr1	186312565	186312565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actctcaacctgagccacctCaaacctagtttcagcaattt	12	11	4	14	0	3	1	3	1	1	0	4	1	3	1	4	0	4	2	4	0	4	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:186312565C>T	ENST00000367478.3	-	27	3939	c.3643G>A	c.(3643-3645)Gag>Aag	p.E1215K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1215					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGAGCCACCTCAAACCTAGTT	0.353			T	NTRK1	papillary thyroid								20	99					0	0	0	0	T	186312565	C	T	186312565	3	4	251	1	0	0	0	0	1	0	0	0	16511	835	29	2	3548	2	TPR	1	186312565	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	6749918	186312565	62938056	23	44981											
CFH	3075	broad.mit.edu	37	chr1	196709904	196709904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttaggagaaaaatggtctCaccctccatcatgcataagt	13	10	8	10	0	2	1	2	0	1	1	4	2	3	1	2	2	1	2	2	2	4	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:196709904C>T	ENST00000367429.4	+	18	3178	c.2938C>T	c.(2938-2940)Cac>Tac	p.H980Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	980	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAAATGGTCTCACCCTCCATC	0.338													8	113					0	0	0	0	T	196709904	C	T	196709904	3	4	251	1	0	0	0	0	1	0	0	0	3312	826	29	2	3026	2	CFH	1	196709904	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	10397339	196709904	52540717	24	44982											
CFHR2	3080	broad.mit.edu	37	chr1	196920100	196920100	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacagacttcaaaacaatgaGaacaacatttcatgtgtaga	18	10	6	7	0	2	3	2	1	0	3	2	4	2	3	0	0	4	1	0	0	7	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:196920100G>A	ENST00000367415.4	+	3	486	c.372G>A	c.(370-372)gaG>gaA	p.E124E	CFHR2_ENST00000367421.3_Silent_p.E124E|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	124	Sushi 2.					extracellular region		p.E124E(1)		large_intestine(2)|ovary(1)|skin(3)	6						AAAACAATGAGAACAACATTT	0.393													13	120					0	0	0	0	A	196920100	G	A	196920100	2	1	251	1	0	0	0	0	0	0	0	1	3314	933	33	2		2	CFHR2	1	196920100	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	210196	196920100	52330521	25	44983											
CRB1	23418	broad.mit.edu	37	chr1	197298069	197298069	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgcttcagatccctgcaaGaacgaggctacatgcctcaa	11	9	9	12	1	2	2	2	0	0	2	3	3	3	2	2	1	5	3	2	1	4	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:197298069G>A	ENST00000367400.3	+	2	723	c.588G>A	c.(586-588)aaG>aaA	p.K196K	CRB1_ENST00000367399.2_Silent_p.K196K|CRB1_ENST00000538660.1_Silent_p.K196K|CRB1_ENST00000535699.1_Silent_p.K127K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	196	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATCCCTGCAAGAACGAGGCTA	0.448													4	68					0	0	0	0	A	197298069	G	A	197298069	2	1	251	1	0	0	0	0	0	0	0	1	3878	933	33	2		2	CRB1	1	197298069	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	377969	197298069	51952552	26	44984											
PPP1R12B	4660	broad.mit.edu	37	chr1	202457699	202457699	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgggatgaggaagcagagtCtttacggaaagcacgctcca	13	6	13	9	3	1	2	0	1	1	1	2	5	2	5	1	3	3	3	1	3	3	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:202457699C>G	ENST00000406302.3	+	14	2042	c.1889C>G	c.(1888-1890)tCt>tGt	p.S630C	PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000391959.3_5'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S630C	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	630					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAAGCAGAGTCTTTACGGAAA	0.433													41	24					0	0	0	0	G	202457699	C	G	202457699	3	3	251	1	0	0	0	0	1	0	0	0	12431	913	32	2	2033	2	PPP1R12B	1	202457699	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	5159630	202457699	46792922	27	44985											
KLHL12	59349	broad.mit.edu	37	chr1	202863774	202863774	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggcaccttcccgggctgtCtgcatatctcccagcatgct	5	10	9	17	2	2	0	0	0	2	0	4	0	3	0	4	2	3	5	4	2	1	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:202863774C>G	ENST00000367261.3	-	9	1457	c.1239G>C	c.(1237-1239)caG>caC	p.Q413H	KLHL12_ENST00000367259.1_Missense_Mutation_p.Q146H|KLHL12_ENST00000435533.3_Missense_Mutation_p.Q451H	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	413	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCGGGCTGTCTGCATATCTC	0.527													28	262					0	0	0	0	G	202863774	C	G	202863774	3	3	251	1	0	0	0	0	1	0	0	0	8420	912	32	2	483	2	KLHL12	1	202863774	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	406075	202863774	46386847	28	44986											
CHIT1	1118	broad.mit.edu	37	chr1	203186208	203186208	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctcaggttcagagggctGacctggttttggaacttcaa	9	12	12	8	0	3	2	3	1	0	1	3	3	3	3	1	4	2	4	1	4	2	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:203186208G>A	ENST00000367229.1	-	11	1244	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	CHIT1_ENST00000535569.1_Nonsense_Mutation_p.Q395*|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.Q385*|CHIT1_ENST00000484834.1_Intron	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	404					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCAGAGGGCTGACCTGGTTTT	0.567											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	122					0	0	0	0	A	203186208	G	A	203186208	4	1	251	1	0	0	0	0	0	1	0	0	3375	1299	45	2	194	2	CHIT1	1	203186208	Nonsense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	322434	203186208	46064413	29	44987											
FMOD	2331	broad.mit.edu	37	chr1	203316510	203316510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgtaggagaggtctagctCaaggaggctgctggaattga	10	10	16	5	0	2	2	1	1	1	1	2	5	2	4	0	5	2	5	0	5	4	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:203316510C>T	ENST00000354955.4	-	2	1352	c.889G>A	c.(889-891)Gag>Aag	p.E297K	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	297					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			AGGTCTAGCTCAAGGAGGCTG	0.557													114	105					0	0	0	0	T	203316510	C	T	203316510	3	4	251	1	0	0	0	0	1	0	0	0	6004	835	29	2	249	2	FMOD	1	203316510	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	130302	203316510	45934111	30	44988											
REN	5972	broad.mit.edu	37	chr1	204128555	204128555	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagaaagagaagacgtcctCttttagcaccccttgggaga	12	9	11	9	1	1	4	0	0	1	4	2	6	2	4	3	1	1	2	3	1	4	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:204128555C>G	ENST00000367195.2	-	5	704	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	REN_ENST00000272190.8_Missense_Mutation_p.E221Q			P00797	RENI_HUMAN	renin	221					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAGACGTCCTCTTTTAGCACC	0.562													18	104					0	0	0	0	G	204128555	C	G	204128555	3	3	251	1	0	0	0	0	1	0	0	0	13306	922	32	2	583	2	REN	1	204128555	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	812045	204128555	45122066	31	44989											
PIK3C2B	5287	broad.mit.edu	37	chr1	204400897	204400897	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtggcctcgtgagtgttctCtcgcatcacctttaccacat	6	13	9	13	2	2	1	1	1	1	0	5	1	2	1	3	2	1	2	3	2	1	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:204400897C>G	ENST00000367187.3	-	29	4736	c.4180G>C	c.(4180-4182)Gag>Cag	p.E1394Q	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.E1366Q	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1394	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGAGTGTTCTCTCGCATCACC	0.532											OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	275					0	0	0	0	G	204400897	C	G	204400897	3	3	251	1	0	0	0	0	1	0	0	0	11982	922	32	2	748	2	PIK3C2B	1	204400897	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	272342	204400897	44849724	32	44990											
SLC41A1	254428	broad.mit.edu	37	chr1	205779410	205779410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacccccttggcgttggcccGagactcaatcaccacctcta	9	8	7	17	2	3	1	2	0	1	1	3	2	3	1	5	2	1	1	5	2	3	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:205779410G>A	ENST00000367137.3	-	2	1174	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	54						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCGTTGGCCCGAGACTCAATC	0.652											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	99					0	0	0	0	A	205779410	G	A	205779410	3	1	251	1	0	0	0	0	1	0	0	0	14717	1057	37	1	1421	1	SLC41A1	1	205779410	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1378513	205779410	43471211	33	44991											
CR1	1378	broad.mit.edu	37	chr1	207741206	207741206	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctccagttattcctaatggGagacacacaggaaaacctct	13	9	7	12	0	1	1	0	0	1	1	3	3	3	2	4	2	1	1	4	2	4	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:207741206G>A	ENST00000367049.4	+	25	3990	c.3990G>A	c.(3988-3990)ggG>ggA	p.G1330G	CR1_ENST00000367053.1_Silent_p.G880G|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Silent_p.G880G|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Silent_p.G880G	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	880	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCCTAATGGGAGACACACAG	0.433													10	367					0	0	0	0	A	207741206	G	A	207741206	2	1	251	1	0	0	0	0	0	0	0	1	3870	1161	41	2		2	CR1	1	207741206	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1961796	207741206	41509415	34	44992											
LIN9	286826	broad.mit.edu	37	chr1	226474137	226474137	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttagacatacacagaagtCattatcaccttcaaaaagtg	16	11	5	9	0	3	2	3	0	0	2	3	2	3	2	1	0	1	0	1	0	6	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:226474137C>G	ENST00000328205.5	-	6	1014	c.469G>C	c.(469-471)Gac>Cac	p.D157H	LIN9_ENST00000366801.1_Missense_Mutation_p.D106H|LIN9_ENST00000481685.1_Missense_Mutation_p.D122H	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	141	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ACACAGAAGTCATTATCACCT	0.318													24	63					0	0	0	0	G	226474137	C	G	226474137	3	3	251	1	0	0	0	0	1	0	0	0	8868	826	29	2	1247	2	LIN9	1	226474137	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	18732931	226474137	22776484	35	44993											
OBSCN	84033	broad.mit.edu	37	chr1	228432256	228432256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggggccagagagtctccttCcacctgcacatcacaggtga	9	7	12	13	0	2	2	1	1	1	1	4	3	3	2	4	3	1	1	4	3	0	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:228432256C>T	ENST00000570156.2	+	12	3815	c.3741C>T	c.(3739-3741)ttC>ttT	p.F1247F	OBSCN_ENST00000284548.11_Silent_p.F1155F|OBSCN_ENST00000422127.1_Silent_p.F1155F|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	197	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGTCTCCTTCCACCTGCACA	0.542													11	196					0	0	0	0	T	228432256	C	T	228432256	2	4	251	1	0	0	0	0	0	0	0	1	10883	854	30	2		2	OBSCN	1	228432256	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	1958119	228432256	20818365	36	44994											
OBSCN	84033	broad.mit.edu	37	chr1	228521393	228521393	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccctggagatcatctcCgtcacccgggaggactctgg	8	7	11	15	2	4	1	2	0	2	1	5	4	4	3	3	4	0	0	3	4	0	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr1:228521393C>T	ENST00000570156.2	+	70	18911	c.18837C>T	c.(18835-18837)tcC>tcT	p.S6279S	OBSCN_ENST00000366709.4_Silent_p.S2441S|OBSCN_ENST00000284548.11_Silent_p.S5322S|OBSCN_ENST00000366707.4_Silent_p.S2956S|OBSCN_ENST00000422127.1_Silent_p.S5322S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5322					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGATCATCTCCGTCACCCGGG	0.582													9	8					0	0	0	0	T	228521393	C	T	228521393	2	4	251	1	0	0	0	0	0	0	0	1	10883	639	23	1		1	OBSCN	1	228521393	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	89137	228521393	20729228	37	44995											
OBSCN	84033	broad.mit.edu	37	chr1	228556503	228556503	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcccagaacatcaccccAgcagagctgcagttcagcca	11	7	8	15	0	2	2	2	0	0	2	2	2	2	2	4	0	6	4	4	0	1	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:228556503A>G	ENST00000570156.2	+	100	22793	c.22719A>G	c.(22717-22719)ccA>ccG	p.P7573P	OBSCN_ENST00000366707.4_Silent_p.P4250P|OBSCN_ENST00000422127.1_Silent_p.P6616P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6616	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACATCACCCCAGCAGAGCTGC	0.567													158	98					0	0	0	0	G	228556503	A	G	228556503	2	3	251	1	0	0	0	0	0	0	0	1	10883	175	7	5		5	OBSCN	1	228556503	Silent	SNP	A	TCGA-CV-6936-01A-11D-1912-08	35110	228556503	20694118	38	44996											
TRIM67	440730	broad.mit.edu	37	chr1	231335933	231335933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcactgcacattgaagctgCgtcagtccaccggactgatg	10	9	10	12	2	2	2	2	2	0	0	3	3	3	3	2	1	3	2	2	1	1	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:231335933C>T	ENST00000444294.3	+	4	2161	c.1303C>T	c.(1303-1305)Cgt>Tgt	p.R435C	TRIM67_ENST00000366652.2_Missense_Mutation_p.R435C|TRIM67_ENST00000449018.3_Missense_Mutation_p.R373C|TRIM67_ENST00000366653.5_Missense_Mutation_p.R435C	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	435						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ATTGAAGCTGCGTCAGTCCAC	0.532													14	219					0	0	0	0	T	231335933	C	T	231335933	3	4	251	1	0	0	0	0	1	0	0	0	16635	768	27	1	1317	1	TRIM67	1	231335933	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	2779430	231335933	17914688	39	44997											
FMN2	56776	broad.mit.edu	37	chr1	240371390	240371390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccacctccccctctacccgGagcgggcataccccctccgc	5	5	7	24	3	1	0	0	0	1	0	3	1	3	1	8	2	3	1	8	2	2	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:240371390G>A	ENST00000319653.9	+	5	3508	c.3278G>A	c.(3277-3279)gGa>gAa	p.G1093E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1093	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCTACCCGGAGCGGGCATA	0.726													3	9					0	0	0	0	A	240371390	G	A	240371390	3	1	251	1	0	0	0	0	1	0	0	0	5995	1174	41	2	3296	2	FMN2	1	240371390	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	9035457	240371390	8879231	40	44998											
AHCTF1	25909	broad.mit.edu	37	chr1	247040301	247040301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcaaggcaggcacataaTtggcacgctgcaaatggtgc	11	8	12	10	1	1	0	1	0	0	0	1	0	1	0	0	4	2	6	0	4	3	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:247040301T>C	ENST00000366508.1	-	23	3129	c.2993A>G	c.(2992-2994)aAt>aGt	p.N998S	AHCTF1_ENST00000391829.2_Missense_Mutation_p.N963S|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.N972S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	963					cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGGCACATAATTGGCACGCTG	0.378													12	79					0	0	0	0	C	247040301	T	C	247040301	3	2	251	1	0	0	0	0	1	0	0	0	408	1493	52	5	3968	5	AHCTF1	1	247040301	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	6668911	247040301	2210320	41	44999											
OR2L3	391192	broad.mit.edu	37	chr1	248224496	248224496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attccttattgccaatccagGgccatcaatcatttcttctg	9	15	5	12	0	4	0	2	0	2	0	6	0	6	0	4	1	1	0	4	1	3	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr1:248224496G>T	ENST00000359959.3	+	1	513	c.513G>T	c.(511-513)agG>agT	p.R171S	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCCAATCCAGGGCCATCAATC	0.473													32	219					1.74807e-11	3.55354e-11	1	0	T	248224496	G	T	248224496	3	4	251	1	0	0	0	0	1	0	0	0	11079	1223	43	4	515	4	OR2L3	1	248224496	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1184195	248224496	1026125	42	45000											
APOB	338	broad.mit.edu	37	chr2	21224885	21224885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatttcctgagcagtggcaGaaagctctgcaatcttctct	9	14	8	10	0	3	2	0	1	3	1	5	2	4	2	1	1	3	4	1	1	3	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:21224885G>A	ENST00000233242.1	-	29	13536	c.13409C>T	c.(13408-13410)tCt>tTt	p.S4470F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4470					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGCAGTGGCAGAAAGCTCTGC	0.383													12	71					0	0	0	0	A	21224885	G	A	21224885	3	1	251	1	0	0	0	0	1	0	0	0	787	942	33	2	286	2	APOB	2	21224885	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08		21224885	221974488	43	45001											
PFN4	375189	broad.mit.edu	37	chr2	24345335	24345335	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccgctcctggattttgAtgagggctgcactgtccaca	7	11	11	12	1	0	2	0	2	0	0	3	3	3	3	3	2	2	4	3	2	0	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:24345335A>T	ENST00000313213.4	-	2	442	c.71T>A	c.(70-72)aTc>aAc	p.I24N	PFN4_ENST00000465360.1_Intron	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	24					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGATTTTGATGAGGGCTGC	0.428													65	49					0	0	0	0	T	24345335	A	T	24345335	3	4	251	1	0	0	0	0	1	0	0	0	11842	333	12	5	334	5	PFN4	2	24345335	Missense_Mutation	SNP	A	TCGA-CV-6936-01A-11D-1912-08	3120450	24345335	218854038	44	45002											
DNMT3A	1788	broad.mit.edu	37	chr2	25463307	25463307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaactcaaagaagagcCggccagtgccctctgagagg	12	5	14	10	1	2	4	1	1	1	4	2	5	2	4	3	3	3	1	3	3	4	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:25463307C>T	ENST00000264709.3	-	19	2523	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R506Q|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R540Q|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R729Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	729					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGAAGAGCCGGCCAGTGCC	0.612			"Mis, F, N, S"		AML								30	28					0	0	0	0	T	25463307	C	T	25463307	3	4	251	1	0	0	0	0	1	0	0	0	4712	652	23	1	572	1	DNMT3A	2	25463307	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	1117972	25463307	217736066	45	45003											
EHBP1	23301	broad.mit.edu	37	chr2	63217961	63217961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctgtaactgagagctcaGagcaggacatgaaagtaagt	16	7	12	6	0	1	3	1	2	0	2	1	5	1	4	0	1	4	5	0	1	4	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:63217961G>A	ENST00000263991.5	+	18	3414	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	EHBP1_ENST00000405289.1_Missense_Mutation_p.E943K|EHBP1_ENST00000354487.3_Missense_Mutation_p.E943K|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.E907K|EHBP1_ENST00000431489.1_Missense_Mutation_p.E907K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	978						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGAGAGCTCAGAGCAGGACAT	0.418													6	38					0	0	0	0	A	63217961	G	A	63217961	3	1	251	1	0	0	0	0	1	0	0	0	5011	943	33	2	2998	2	EHBP1	2	63217961	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	37754654	63217961	179981412	46	45004											
MEIS1	4211	broad.mit.edu	37	chr2	66775128	66775128	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggcacaagacacgggactCaccatccttcaagtgaacaa	14	7	8	12	1	2	2	2	1	0	1	3	3	3	3	2	2	1	1	2	2	4	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:66775128C>T	ENST00000488550.1	+	9	1241	c.942C>T	c.(940-942)ctC>ctT	p.L314L	MEIS1_ENST00000272369.9_Silent_p.L314L|MEIS1_ENST00000407092.2_Silent_p.L314L|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000560281.2_Silent_p.L314L|MEIS1_ENST00000398506.2_Silent_p.L312L|MEIS1_ENST00000495021.2_Silent_p.L249L|MEIS1_ENST00000444274.2_3'UTR			O00470	MEIS1_HUMAN	Meis homeobox 1	314							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						ACACGGGACTCACCATCCTTC	0.423													13	31					0	0	0	0	T	66775128	C	T	66775128	2	4	251	1	0	0	0	0	0	0	0	1	9536	813	29	2		2	MEIS1	2	66775128	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	3557167	66775128	176424245	47	45005											
ASPRV1	151516	broad.mit.edu	37	chr2	70188034	70188034	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcttcagcttgcctaGggacaccgctgtatcccaga	8	10	9	14	1	2	1	2	0	0	1	3	2	3	2	3	1	3	4	3	1	2	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:70188034G>A	ENST00000320256.4	-	1	1363	c.787C>T	c.(787-789)Cta>Tta	p.L263L		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	263	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGCTTGCCTAGGGACACCGCT	0.542													25	60					0	0	0	0	A	70188034	G	A	70188034	2	1	251	1	0	0	0	0	0	0	0	1	1062	991	35	4		4	ASPRV1	2	70188034	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	3412906	70188034	173011339	48	45006											
ZNF638	27332	broad.mit.edu	37	chr2	71653623	71653623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttaatttggatgaatttGttactgtggatgaggttata	11	18	10	2	0	0	2	0	2	0	0	0	4	0	4	0	3	1	2	0	3	5	7			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:71653623G>T	ENST00000409544.1	+	24	5254	c.4624G>T	c.(4624-4626)Gtt>Ttt	p.V1542F	ZNF638_ENST00000409407.1_Missense_Mutation_p.V482F|ZNF638_ENST00000355812.3_Missense_Mutation_p.L1133F|ZNF638_ENST00000264447.4_Missense_Mutation_p.V1542F	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1542					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGATGAATTTGTTACTGTGGA	0.348													18	20					1.56452e-12	3.20916e-12	1	0	T	71653623	G	T	71653623	3	4	251	1	0	0	0	0	1	0	0	0	18150	1377	48	4	4714	4	ZNF638	2	71653623	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1465589	71653623	171545750	49	45007											
REG1B	5968	broad.mit.edu	37	chr2	79314023	79314023	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgccttctgggcagctgattCggggattaggcagctctgtc	5	12	14	10	1	2	1	0	1	2	0	4	2	2	2	1	4	3	4	1	4	1	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:79314023C>G	ENST00000305089.3	-	3	178	c.98G>C	c.(97-99)cGa>cCa	p.R33P		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	33					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GCAGCTGATTCGGGGATTAGG	0.498													68	53					0	0	0	0	G	79314023	C	G	79314023	3	3	251	1	0	0	0	0	1	0	0	0	13293	884	31	3	418	3	REG1B	2	79314023	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	7660400	79314023	163885350	50	45008											
CTNNA2	1496	broad.mit.edu	37	chr2	79878701	79878701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatgacttcggcaacttcaCctatcattctgaaatgggac	11	11	8	11	1	3	2	2	2	1	0	4	3	3	3	1	2	1	2	1	2	3	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:79878701C>T	ENST00000466387.1	+	6	743	c.19C>T	c.(19-21)Cct>Tct	p.P7S	CTNNA2_ENST00000540488.1_Missense_Mutation_p.P7S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P7S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P7S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P41S|CTNNA2_ENST00000402739.4_Missense_Mutation_p.P7S|CTNNA2_ENST00000409266.1_Missense_Mutation_p.P7S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	7					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGCAACTTCACCTATCATTCT	0.403													24	57					0	0	0	0	T	79878701	C	T	79878701	3	4	251	1	0	0	0	0	1	0	0	0	4045	507	18	4	21	4	CTNNA2	2	79878701	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	564678	79878701	163320672	51	45009											
DPP10	57628	broad.mit.edu	37	chr2	116447315	116447315	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatttacaacatacacactaGgtaagttctttgattttcta	13	16	5	7	0	2	1	0	1	2	0	2	2	2	1	0	1	3	2	0	1	6	10			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:116447315G>A	ENST00000410059.1	+	6	974	c.494_splice	c.e6+1	p.R165_splice	DPP10_ENST00000393147.2_Splice_Site_p.R169_splice|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Splice_Site_p.R158_splice|DPP10_ENST00000409163.1_Splice_Site_p.R115_splice	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	165					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATACACACTAGGTAAGTTCTT	0.264													4	16					0	0	0	0	A	116447315	G	A	116447315	5	1	251	1	0	0	0	0	0	0	1	0	4763	1014	35	4	687	4	DPP10	2	116447315	Splice_Site	SNP	G	TCGA-CV-6936-01A-11D-1912-08	36568614	116447315	126752058	52	45010											
LRP1B	53353	broad.mit.edu	37	chr2	141260622	141260622	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgccattgagtatttagaaGacaccgcccatcagcacaac	13	8	7	13	1	1	3	1	1	0	2	1	3	1	3	3	0	3	2	3	0	4	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:141260622G>C	ENST00000389484.3	-	54	9543	c.8572C>G	c.(8572-8574)Ctt>Gtt	p.L2858V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2858	LDL-receptor class A 19.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATTTAGAAGACACCGCCCA	0.388										TSP Lung(27;0.18)			20	52					0	0	0	0	C	141260622	G	C	141260622	3	2	251	1	0	0	0	0	1	0	0	0	9019	942	33	2	5379	2	LRP1B	2	141260622	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	24813307	141260622	101938751	53	45011											
MBD5	55777	broad.mit.edu	37	chr2	149227843	149227843	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtaacagtccagtccccaaCcaccatcttgcaggtttaat	12	10	6	13	0	1	0	0	0	1	0	3	0	3	0	5	1	3	3	5	1	3	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:149227843C>T	ENST00000407073.1	+	9	3328	c.2331C>T	c.(2329-2331)aaC>aaT	p.N777N	MBD5_ENST00000404807.1_Silent_p.N777N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	777						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGTCCCCAACCACCATCTTG	0.463													21	63					0	0	0	0	T	149227843	C	T	149227843	2	4	251	1	0	0	0	0	0	0	0	1	9416	506	18	4		4	MBD5	2	149227843	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	7967221	149227843	93971530	54	45012											
NEB	4703	broad.mit.edu	37	chr2	152499769	152499769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacggtaaacatggtcactCaaaatctgggtggctcgttt	10	12	11	8	2	3	1	2	1	1	0	4	1	3	1	0	4	1	3	0	4	4	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:152499769C>G	ENST00000427231.2	-	58	8257	c.8055G>C	c.(8053-8055)ttG>ttC	p.L2685F	NEB_ENST00000172853.10_Missense_Mutation_p.L2685F|NEB_ENST00000397345.3_Missense_Mutation_p.L2685F|NEB_ENST00000603639.1_Missense_Mutation_p.L2685F|NEB_ENST00000409198.1_Missense_Mutation_p.L2685F|NEB_ENST00000604864.1_Missense_Mutation_p.L2685F	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2685					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATGGTCACTCAAAATCTGGG	0.413													3	109					0	0	0	0	G	152499769	C	G	152499769	3	3	251	1	0	0	0	0	1	0	0	0	10372	825	29	2	18131	2	NEB	2	152499769	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	3271926	152499769	90699604	55	45013											
XIRP2	129446	broad.mit.edu	37	chr2	168102261	168102261	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaatgttaaaacatctacTtggctatttgaaacccacac	14	11	6	10	0	1	1	0	1	1	0	1	1	1	1	1	2	3	3	1	2	6	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:168102261T>G	ENST00000409195.1	+	9	4448	c.4359T>G	c.(4357-4359)acT>acG	p.T1453T	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.T1453T|XIRP2_ENST00000409273.1_Silent_p.T1231T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1278					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						AAACATCTACTTGGCTATTTG	0.348													10	15					0	0	0	0	G	168102261	T	G	168102261	2	3	251	1	0	0	0	0	0	0	0	1	17526	1596	56	5		5	XIRP2	2	168102261	Silent	SNP	T	TCGA-CV-6936-01A-11D-1912-08	15602492	168102261	75097112	56	45014											
GPR155	151556	broad.mit.edu	37	chr2	175346518	175346518	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcccttcctgctatgtagCcacaaaggacaatgccaaag	12	8	9	12	0	0	0	0	0	0	0	1	1	1	1	4	2	3	2	4	2	5	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:175346518C>G	ENST00000392552.2	-	2	405	c.167G>C	c.(166-168)gGc>gCc	p.G56A	GPR155_ENST00000392551.2_Missense_Mutation_p.G56A|GPR155_ENST00000295500.4_Missense_Mutation_p.G56A	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	56					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TGCTATGTAGCCACAAAGGAC	0.418													12	34					0	0	0	0	G	175346518	C	G	175346518	3	3	251	1	0	0	0	0	1	0	0	0	6709	739	26	4	2505	4	GPR155	2	175346518	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	7244257	175346518	67852855	57	45015											
TTN	7273	broad.mit.edu	37	chr2	179395647	179395647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctggggatttgactcttGgtggtgatgtcacagccttt	5	15	13	8	0	3	2	1	2	2	0	3	3	3	3	1	4	1	1	1	4	0	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:179395647G>T	ENST00000589042.1	-	358	105919	c.105695C>A	c.(105694-105696)cCa>cAa	p.P35232Q	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P33591Q|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P26359Q|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26292Q|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P26167Q|TTN_ENST00000342992.6_Missense_Mutation_p.P32664Q|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33591							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)			TTTGACTCTTGGTGGTGATGT	0.478													13	141					4.36969e-10	8.77805e-10	1	0	T	179395647	G	T	179395647	3	4	251	1	0	0	0	0	1	0	0	0	16831	1348	47	4	2304	4	TTN	2	179395647	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	4049129	179395647	63803726	58	45016											
TTN	7273	broad.mit.edu	37	chr2	179593094	179593094	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttatccattttggttaatTttttggtgaatgatggagga	9	19	10	3	0	0	2	0	2	0	0	1	4	1	4	1	4	0	1	1	4	3	8			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:179593094T>G	ENST00000589042.1	-	67	19681	c.19457A>C	c.(19456-19458)aAa>aCa	p.K6486T	TTN_ENST00000591111.1_Missense_Mutation_p.K6169T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K5242T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6169	Ig-like 46.						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)			TTTGGTTAATTTTTTGGTGAA	0.358													6	13					0	0	0	0	G	179593094	T	G	179593094	3	3	251	1	0	0	0	0	1	0	0	0	16831	1841	64	5	85256	5	TTN	2	179593094	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	197447	179593094	63606279	59	45017											
TTN	7273	broad.mit.edu	37	chr2	179654776	179654776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcttgatactaaatcttGttctttgactttgggtgtgg	7	18	9	7	0	3	2	0	2	3	0	3	2	3	2	1	2	1	1	1	2	3	7			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:179654776G>T	ENST00000589042.1	-	12	2091	c.1867C>A	c.(1867-1869)Caa>Aaa	p.Q623K	TTN_ENST00000360870.5_Missense_Mutation_p.Q623K|TTN_ENST00000591111.1_Missense_Mutation_p.Q623K|TTN_ENST00000342175.6_Missense_Mutation_p.Q577K|TTN_ENST00000359218.5_Missense_Mutation_p.Q577K|TTN_ENST00000460472.2_Missense_Mutation_p.Q577K|TTN_ENST00000342992.6_Missense_Mutation_p.Q623K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	623							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)			ACTAAATCTTGTTCTTTGACT	0.348													18	27					3.51602e-12	7.19041e-12	1	0	T	179654776	G	T	179654776	3	4	251	1	0	0	0	0	1	0	0	0	16831	1386	48	4	109525	4	TTN	2	179654776	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	61682	179654776	63544597	60	45018											
TTN	7273	broad.mit.edu	37	chr2	179655440	179655440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggaagtcatcaccttttCataacttaggtgcatttgat	11	14	8	8	0	3	1	3	1	0	0	3	2	3	2	1	2	2	2	1	2	3	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:179655440C>T	ENST00000589042.1	-	11	2019	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	TTN_ENST00000360870.5_Missense_Mutation_p.E599K|TTN_ENST00000591111.1_Missense_Mutation_p.E599K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E599K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	599							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)			ATCACCTTTTCATAACTTAGG	0.408													6	82					0	0	0	0	T	179655440	C	T	179655440	3	4	251	1	0	0	0	0	1	0	0	0	16831	835	29	2	109601	2	TTN	2	179655440	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	664	179655440	63543933	61	45019											
TTN	7273	broad.mit.edu	37	chr2	179669350	179669350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtaacggctgcgtaaacGtcggtgcttgagttgtcatc	7	14	12	8	4	1	1	1	1	0	0	3	1	1	1	0	2	4	5	0	2	3	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:179669350G>A	ENST00000589042.1	-	2	244	c.20C>T	c.(19-21)aCg>aTg	p.T7M	TTN_ENST00000360870.5_Missense_Mutation_p.T7M|TTN_ENST00000591111.1_Missense_Mutation_p.T7M|TTN_ENST00000342175.6_Missense_Mutation_p.T7M|TTN_ENST00000359218.5_Missense_Mutation_p.T7M|TTN_ENST00000460472.2_Missense_Mutation_p.T7M|TTN_ENST00000342992.6_Missense_Mutation_p.T7M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7	Ig-like 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T7M(5)		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)			CTGCGTAAACGTCGGTGCTTG	0.453													14	34					0	0	0	0	A	179669350	G	A	179669350	3	1	251	1	0	0	0	0	1	0	0	0	16831	1145	40	1	111412	1	TTN	2	179669350	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	13910	179669350	63530023	62	45020											
PMS1	5378	broad.mit.edu	37	chr2	190719576	190719576	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgaaaaaagtttaccatgTaaagtaagtaataataatta	20	12	5	4	0	0	1	0	1	0	0	0	1	0	1	2	0	1	4	2	0	11	8			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:190719576T>C	ENST00000441310.2	+	9	1811	c.1578T>C	c.(1576-1578)tgT>tgC	p.C526C	PMS1_ENST00000409823.3_Silent_p.C487C|PMS1_ENST00000447232.2_Silent_p.C526C|PMS1_ENST00000432292.3_Silent_p.C350C|PMS1_ENST00000418224.3_Silent_p.C350C|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	526					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GTTTACCATGTAAAGTAAGTA	0.294			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					12	30					0	0	0	0	C	190719576	T	C	190719576	2	2	251	1	0	0	0	0	0	0	0	1	12214	1644	57	5		5	PMS1	2	190719576	Silent	SNP	T	TCGA-CV-6936-01A-11D-1912-08	11050226	190719576	52479797	63	45021											
STAT1	6772	broad.mit.edu	37	chr2	191863005	191863005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctgttcttgtttctgatCactctttgccacaccattgg	6	16	7	12	0	4	1	1	1	3	0	4	1	4	1	2	1	2	3	2	1	0	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:191863005C>T	ENST00000361099.3	-	8	958	c.571G>A	c.(571-573)Gat>Aat	p.D191N	STAT1_ENST00000540176.1_Intron|STAT1_ENST00000409465.1_Missense_Mutation_p.D191N|STAT1_ENST00000392322.3_Missense_Mutation_p.D191N|STAT1_ENST00000392323.2_Missense_Mutation_p.D193N	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	191					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGTTTCTGATCACTCTTTGCC	0.338													7	64					0	0	0	0	T	191863005	C	T	191863005	3	4	251	1	0	0	0	0	1	0	0	0	15354	826	29	2	1757	2	STAT1	2	191863005	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	1143429	191863005	51336368	64	45022											
DNAH7	56171	broad.mit.edu	37	chr2	196664153	196664153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggttcaatgaatgcaCgtcccaatctgttgattata	10	13	11	7	1	2	2	1	2	1	0	3	2	3	2	1	3	1	3	1	3	5	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:196664153C>T	ENST00000312428.6	-	55	10320	c.10220G>A	c.(10219-10221)cGt>cAt	p.R3407H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3407	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATGAATGCACGTCCCAATCT	0.418													28	75					0	0	0	0	T	196664153	C	T	196664153	3	4	251	1	0	0	0	0	1	0	0	0	4642	536	19	1	1898	1	DNAH7	2	196664153	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	4801148	196664153	46535220	65	45023											
GTF3C3	9330	broad.mit.edu	37	chr2	197641315	197641315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccaccttgccatagctttCagcagctcgctccatatagc	10	10	6	15	1	1	0	1	0	0	0	3	0	2	0	4	0	6	4	4	0	4	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:197641315C>T	ENST00000263956.3	-	11	1518	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	477						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCATAGCTTTCAGCAGCTCGC	0.438													5	87					0	0	0	0	T	197641315	C	T	197641315	3	4	251	1	0	0	0	0	1	0	0	0	6924	835	29	2	1263	2	GTF3C3	2	197641315	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	977162	197641315	45558058	66	45024											
FN1	2335	broad.mit.edu	37	chr2	216286886	216286886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacgtgcacctcatcatgtGacccatgtcatgctgcttat	9	12	7	13	1	3	1	3	1	0	0	3	1	3	1	2	0	3	3	2	0	1	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:216286886G>C	ENST00000354785.4	-	10	1843	c.1474C>G	c.(1474-1476)Cac>Gac	p.H492D	FN1_ENST00000432072.2_Missense_Mutation_p.H492D|FN1_ENST00000443816.1_Missense_Mutation_p.H492D|FN1_ENST00000356005.4_Missense_Mutation_p.H492D|FN1_ENST00000446046.1_Missense_Mutation_p.H492D|FN1_ENST00000421182.1_Missense_Mutation_p.H492D|FN1_ENST00000426059.1_Missense_Mutation_p.H492D|FN1_ENST00000359671.1_Missense_Mutation_p.H492D|FN1_ENST00000357867.4_Missense_Mutation_p.H492D|FN1_ENST00000357009.2_Missense_Mutation_p.H492D|FN1_ENST00000346544.3_Missense_Mutation_p.H492D|FN1_ENST00000336916.4_Missense_Mutation_p.H492D|FN1_ENST00000323926.6_Missense_Mutation_p.H492D|FN1_ENST00000345488.5_Missense_Mutation_p.H492D			P02751	FINC_HUMAN	fibronectin 1	492	Collagen-binding.|Fibronectin type-I 7.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCATCATGTGACCCATGTCA	0.478													21	100					0	0	0	0	C	216286886	G	C	216286886	3	2	251	1	0	0	0	0	1	0	0	0	6007	1290	45	2	6140	2	FN1	2	216286886	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	18645571	216286886	26912487	67	45025											
SP140	11262	broad.mit.edu	37	chr2	231112644	231112644	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctagttctagaaagcaaCgggatgatagatgcggcaag	13	8	12	8	2	1	3	0	1	1	2	2	4	2	4	1	2	3	3	1	2	6	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:231112644C>T	ENST00000392045.3	+	8	870	c.756C>T	c.(754-756)aaC>aaT	p.N252N	SP140_ENST00000343805.6_Silent_p.N226N|SP140_ENST00000350136.5_Intron|SP140_ENST00000420434.3_Silent_p.N252N|SP140_ENST00000486687.2_Intron|SP140_ENST00000417495.3_Intron	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	252					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAGAAAGCAACGGGATGATAG	0.443													32	70					0	0	0	0	T	231112644	C	T	231112644	2	4	251	1	0	0	0	0	0	0	0	1	15050	535	19	1		1	SP140	2	231112644	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	14825758	231112644	12086729	68	45026											
GBX2	2637	broad.mit.edu	37	chr2	237075004	237075004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtccacatcgctctccagCgagaagctctcctccttgcc	7	10	7	17	2	2	1	0	0	2	1	7	2	4	1	5	0	3	2	5	0	2	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr2:237075004C>A	ENST00000551105.1	-	3	674	c.637G>T	c.(637-639)Gct>Tct	p.A213S	GBX2_ENST00000306318.4_Silent_p.S200S|GBX2_ENST00000465889.1_5'UTR			P52951	GBX2_HUMAN	gastrulation brain homeobox 2	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CGCTCTCCAGCGAGAAGCTCT	0.602													39	79					2.75727e-19	5.75982e-19	1	0	A	237075004	C	A	237075004	3	1	251	1	0	0	0	0	1	0	0	0	6330	755	27	3	450	3	GBX2	2	237075004	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	5962360	237075004	6124369	69	45027											
LRRN1	57633	broad.mit.edu	37	chr3	3888390	3888390	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccactcattaacctctggGaaggtgacagcgagaaagac	14	6	10	11	1	2	3	1	1	1	2	2	5	2	4	2	2	2	0	2	2	3	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:3888390G>T	ENST00000319331.3	+	2	2826	c.2065G>T	c.(2065-2067)Gaa>Taa	p.E689*	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	689						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TAACCTCTGGGAAGGTGACAG	0.413													19	9					2.35188e-11	4.76676e-11	1	0	T	3888390	G	T	3888390	4	4	251	1	0	0	0	0	0	1	0	0	9098	1175	41	2	2067	2	LRRN1	3	3888390	Nonsense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08		3888390	194134040	70	45028											
HACL1	26061	broad.mit.edu	37	chr3	15609959	15609959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgacgaggaaggtagttCtgaagcacagtccgtccaat	11	9	12	9	2	1	2	0	2	1	0	3	4	3	3	2	2	1	3	2	2	4	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:15609959C>T	ENST00000321169.5	-	13	1597	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	HACL1_ENST00000435217.2_Silent_p.Q169Q|HACL1_ENST00000457447.2_Silent_p.Q350Q|HACL1_ENST00000456194.2_Silent_p.Q383Q|HACL1_ENST00000451445.2_Silent_p.Q328Q	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	410	Thiamine pyrophosphate binding.				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						GAAGGTAGTTCTGAAGCACAG	0.368													5	40					0	0	0	0	T	15609959	C	T	15609959	2	4	251	1	0	0	0	0	0	0	0	1	6991	912	32	2		2	HACL1	3	15609959	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	11721569	15609959	182412471	71	45029											
TGFBR2	7048	broad.mit.edu	37	chr3	30713698	30713698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtacctgacgcggcatgtCatcagctgggaggacctgcg	8	7	15	11	3	2	1	2	1	0	0	2	4	2	3	2	3	3	3	2	3	1	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:30713698C>T	ENST00000295754.5	+	4	1405	c.1023C>T	c.(1021-1023)gtC>gtT	p.V341V	TGFBR2_ENST00000359013.4_Silent_p.V366V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	341	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CGCGGCATGTCATCAGCTGGG	0.617													52	40					0	0	0	0	T	30713698	C	T	30713698	2	4	251	1	0	0	0	0	0	0	0	1	15916	813	29	2		2	TGFBR2	3	30713698	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	15103739	30713698	167308732	72	45030											
MLH1	4292	broad.mit.edu	37	chr3	37048548	37048548	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctggcaatcaagggacccaGatcacggtaagaatggtaca	14	6	12	9	1	2	2	2	0	0	2	2	3	2	3	1	4	1	4	1	4	5	2	rs63750638		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:37048548G>A	ENST00000231790.2	+	5	663	c.447G>A	c.(445-447)caG>caA	p.Q149Q	MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000435176.1_Silent_p.Q51Q|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000536378.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	149					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AAGGGACCCAGATCACGGTAA	0.343		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				22	15					0	0	0	0	A	37048548	G	A	37048548	2	1	251	1	0	0	0	0	0	0	0	1	9686	933	33	2		2	MLH1	3	37048548	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	6334850	37048548	160973882	73	45031											
DLEC1	9940	broad.mit.edu	37	chr3	38081086	38081086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatcaaggcccgcggcagcGagaatgagcgccacgaggag	11	3	16	11	5	1	3	1	2	0	1	1	6	1	4	2	3	2	1	2	3	2	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:38081086G>A	ENST00000308059.6	+	1	391	c.370G>A	c.(370-372)Gag>Aag	p.E124K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E124K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E124K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	124					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCGCGGCAGCGAGAATGAGCG	0.647													23	39					0	0	0	0	A	38081086	G	A	38081086	3	1	251	1	0	0	0	0	1	0	0	0	4589	1059	37	1	372	1	DLEC1	3	38081086	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1032538	38081086	159941344	74	45032											
TTC21A	199223	broad.mit.edu	37	chr3	39156090	39156090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacaggcaatgtacttcatGatgcagcagaactactcaga	15	8	8	10	0	2	3	2	1	0	2	2	3	2	3	0	1	6	4	0	1	5	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:39156090G>A	ENST00000301819.6	+	6	750	c.573G>A	c.(571-573)atG>atA	p.M191I	TTC21A_ENST00000431162.2_Missense_Mutation_p.M191I|TTC21A_ENST00000440121.1_Missense_Mutation_p.M150I	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	191							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTACTTCATGATGCAGCAGA	0.557													62	57					0	0	0	0	A	39156090	G	A	39156090	3	1	251	1	0	0	0	0	1	0	0	0	16783	1290	45	2	595	2	TTC21A	3	39156090	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1075004	39156090	158866340	75	45033											
ALS2CL	259173	broad.mit.edu	37	chr3	46713495	46713495	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtatgtcctctccagcacctCcagcttctcccgtgggtcca	5	11	8	17	1	2	0	0	0	2	0	7	0	5	0	6	1	2	3	6	1	1	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:46713495C>G	ENST00000318962.4	-	24	2646	c.2563G>C	c.(2563-2565)Gag>Cag	p.E855Q	ALS2CL_ENST00000383742.3_Missense_Mutation_p.E202Q|ALS2CL_ENST00000415953.1_Missense_Mutation_p.E855Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	855	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TCCAGCACCTCCAGCTTCTCC	0.622													3	50					0	0	0	0	G	46713495	C	G	46713495	3	3	251	1	0	0	0	0	1	0	0	0	551	864	30	2	310	2	ALS2CL	3	46713495	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	7557405	46713495	151308935	76	45034											
NBEAL2	23218	broad.mit.edu	37	chr3	47033992	47033992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagtcccgggcgccccccGagggggacagtgacctggct	5	5	16	15	3	0	1	0	1	0	0	1	3	1	2	5	4	1	2	5	4	0	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:47033992G>A	ENST00000450053.3	+	10	1239	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.E354K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	354							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGCGCCCCCCGAGGGGGACAG	0.637													5	4					0	0	0	0	A	47033992	G	A	47033992	3	1	251	1	0	0	0	0	1	0	0	0	10259	1059	37	1	1098	1	NBEAL2	3	47033992	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	320497	47033992	150988438	77	45035											
CCDC36	339834	broad.mit.edu	37	chr3	49294689	49294689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctctatgacctgggttttGatagcagtgatgatgatggc	8	14	13	6	0	1	5	0	5	1	0	1	5	1	5	1	2	2	3	1	2	2	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:49294689G>C	ENST00000438782.1	+	8	1995	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H	CCDC36_ENST00000296449.5_Missense_Mutation_p.D587H|CCDC36_ENST00000452691.2_Missense_Mutation_p.D587H			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	587										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CCTGGGTTTTGATAGCAGTGA	0.478													3	162					0	0	0	0	C	49294689	G	C	49294689	3	2	251	1	0	0	0	0	1	0	0	0	2834	1290	45	2	1785	2	CCDC36	3	49294689	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	2260697	49294689	148727741	78	45036											
RBM5	10181	broad.mit.edu	37	chr3	50151488	50151488	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagggaagaagaaaggagaGaatctgctgcagcagacgct	15	5	15	6	1	1	5	0	1	1	4	1	8	1	7	0	2	3	4	0	2	4	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:50151488G>C	ENST00000347869.3	+	19	1898	c.1723G>C	c.(1723-1725)Gaa>Caa	p.E575Q		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	575	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGAAAGGAGAGAATCTGCTGC	0.423													22	24					0	0	0	0	C	50151488	G	C	50151488	3	2	251	1	0	0	0	0	1	0	0	0	13225	943	33	2	1793	2	RBM5	3	50151488	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	856799	50151488	147870942	79	45037											
GRM2	2912	broad.mit.edu	37	chr3	51749374	51749374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcattccgtgccagccctatGagtaccgattggacgaattc	9	10	10	12	3	0	1	0	1	0	0	2	4	1	2	4	1	3	2	4	1	3	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:51749374G>C	ENST00000395052.3	+	4	1819	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	529					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCAGCCCTATGAGTACCGATT	0.612													6	15					0	0	0	0	C	51749374	G	C	51749374	3	2	251	1	0	0	0	0	1	0	0	0	6847	1291	45	2	1595	2	GRM2	3	51749374	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1597886	51749374	146273056	80	45038											
SFMBT1	51460	broad.mit.edu	37	chr3	52947576	52947576	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgttaagatatggccctGagaagcaacggtggttgaag	11	11	13	6	1	0	3	0	2	0	2	0	4	0	3	1	3	2	3	1	3	5	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:52947576G>C	ENST00000394752.3	-	15	1920	c.1538C>G	c.(1537-1539)tCa>tGa	p.S513*	SFMBT1_ENST00000394750.1_Nonsense_Mutation_p.S513*|SFMBT1_ENST00000358080.2_Nonsense_Mutation_p.S513*|SFMBT1_ENST00000296295.6_Nonsense_Mutation_p.S513*	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	513					regulation of transcription, DNA-dependent	nucleus		p.S513*(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ATATGGCCCTGAGAAGCAACG	0.403													13	11					0	0	0	0	C	52947576	G	C	52947576	4	2	251	1	0	0	0	0	0	1	0	0	14244	1294	45	2	1090	2	SFMBT1	3	52947576	Nonsense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1198202	52947576	145074854	81	45039											
ERC2	26059	broad.mit.edu	37	chr3	55984515	55984515	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcacttcttctagtaactGagcatttttcttcttttcca	7	18	5	11	1	4	1	0	1	4	0	5	1	5	1	1	0	2	3	1	0	2	9			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:55984515G>A	ENST00000288221.6	-	13	2596	c.2341C>T	c.(2341-2343)Cag>Tag	p.Q781*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	781						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTAGTAACTGAGCATTTTTC	0.428													10	35					0	0	0	0	A	55984515	G	A	55984515	4	1	251	1	0	0	0	0	0	1	0	0	5249	1299	45	2	552	2	ERC2	3	55984515	Nonsense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	3036939	55984515	142037915	82	45040											
COL8A1	1295	broad.mit.edu	37	chr3	99513335	99513335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggatcccaggaccacaagGacctccagggcctcatggac	10	4	13	14	0	1	0	1	0	0	0	3	4	3	4	5	6	0	0	5	6	1	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:99513335G>A	ENST00000261037.3	+	5	970	c.590G>A	c.(589-591)gGa>gAa	p.G197E	COL8A1_ENST00000273342.4_Missense_Mutation_p.G197E	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	197	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGACCACAAGGACCTCCAGGG	0.587													5	58					0	0	0	0	A	99513335	G	A	99513335	3	1	251	1	0	0	0	0	1	0	0	0	3735	1174	41	2	596	2	COL8A1	3	99513335	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	43528820	99513335	98509095	83	45041											
TFG	10342	broad.mit.edu	37	chr3	100463757	100463758	+	Frame_Shift_Ins	INS	-	-	A																															acctcagcagcctcaacagtINSatggtattcagtattcaggt																										TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:100463757_100463758insA	ENST00000240851.4	+	7	1142_1143	c.802_803insA	c.(802-804)tggfs	p.W268fs	TFG_ENST00000418917.2_Frame_Shift_Ins_p.W264fs|TFG_ENST00000490574.1_Frame_Shift_Ins_p.W268fs|TFG_ENST00000476228.1_Frame_Shift_Ins_p.W264fs|TFG_ENST00000481203.1_3'UTR	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	268					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GCCTCAACAGTATGGTATTCAG	0.455			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"								70	83	---	---	---	---					A	100463758	-	A	100463757	7	5	251	1	0	1	1	0	0	0	0	0	15900	1638	57	0	824	0	TFG	3	100463757	Frame_Shift_Ins	INS	-	TCGA-CV-6936-01A-11D-1912-08	950422	100463757	97558673	84	45042											
BOC	91653	broad.mit.edu	37	chr3	112998239	112998239	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagaaagtgggagactggAttctggccaccagcgccatc	12	7	12	10	1	1	2	0	0	1	2	2	4	1	3	3	3	1	0	3	3	3	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:112998239A>T	ENST00000495514.1	+	12	2661	c.1957A>T	c.(1957-1959)Att>Ttt	p.I653F	BOC_ENST00000355385.3_Missense_Mutation_p.I653F|BOC_ENST00000273395.4_Missense_Mutation_p.I654F			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	653	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGGAGACTGGATTCTGGCCAC	0.602													9	47					0	0	0	0	T	112998239	A	T	112998239	3	4	251	1	0	0	0	0	1	0	0	0	1486	333	12	5	1995	5	BOC	3	112998239	Missense_Mutation	SNP	A	TCGA-CV-6936-01A-11D-1912-08	12534482	112998239	85024191	85	45043											
CD80	941	broad.mit.edu	37	chr3	119248769	119248769	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgggagcaggttatcaggaAaatgctcttgcttggctatg	10	12	13	6	0	2	0	1	0	1	0	2	2	2	2	0	4	3	5	0	4	4	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:119248769A>T	ENST00000264246.3	-	5	1078	c.716T>A	c.(715-717)tTt>tAt	p.F239Y	CD80_ENST00000478182.1_Missense_Mutation_p.F239Y|CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Intron	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	239					interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	GTTATCAGGAAAATGCTCTTG	0.408													5	61					0	0	0	0	T	119248769	A	T	119248769	3	4	251	1	0	0	0	0	1	0	0	0	3067	14	1	5	158	5	CD80	3	119248769	Missense_Mutation	SNP	A	TCGA-CV-6936-01A-11D-1912-08	6250530	119248769	78773661	86	45044											
NDUFB4	4710	broad.mit.edu	37	chr3	120315376	120315376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacaacgatcccaaccgccGagggctcatcgtgagtgtgg	9	7	13	12	4	1	1	1	1	0	0	3	3	2	1	3	2	3	2	3	2	3	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:120315376G>A	ENST00000485064.1	+	1	202	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	NDUFB4_ENST00000492739.1_Missense_Mutation_p.R57Q|NDUFB4_ENST00000184266.2_Missense_Mutation_p.R57Q	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	57					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	CCCAACCGCCGAGGGCTCATC	0.632													4	17					0	0	0	0	A	120315376	G	A	120315376	3	1	251	1	0	0	0	0	1	0	0	0	10353	1058	37	1	172	1	NDUFB4	3	120315376	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1066607	120315376	77707054	87	45045											
GOLGB1	2804	broad.mit.edu	37	chr3	121414936	121414936	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgctttgctctactttcTtctccaatctcttctggttt	3	22	5	11	0	5	0	0	0	5	0	7	0	5	0	1	1	3	4	1	1	2	7			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:121414936T>C	ENST00000393667.3	-	13	4544	c.4434A>G	c.(4432-4434)gaA>gaG	p.E1478E	GOLGB1_ENST00000340645.5_Silent_p.E1473E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1473					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCTACTTTCTTCTCCAATCT	0.393													42	223					0	0	0	0	C	121414936	T	C	121414936	2	2	251	1	0	0	0	0	0	0	0	1	6613	1606	56	5		5	GOLGB1	3	121414936	Silent	SNP	T	TCGA-CV-6936-01A-11D-1912-08	1099560	121414936	76607494	88	45046											
ZIC4	84107	broad.mit.edu	37	chr3	147114239	147114239	+	Missense_Mutation	SNP	G	G	T																															ggcggtgagctgggggccatGgtgtccagagctgctacctg																										TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:147114239G>T	ENST00000383075.3	-	3	600	c.88C>A	c.(88-90)Cat>Aat	p.H30N	ZIC4_ENST00000473123.1_Missense_Mutation_p.H30N|ZIC4_ENST00000425731.3_Missense_Mutation_p.H68N|ZIC4_ENST00000525172.2_Missense_Mutation_p.H80N|ZIC4_ENST00000484399.1_Missense_Mutation_p.H30N|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	30						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGGGGGCCATGGTGTCCAGAG	0.692													10	43					3.07112e-06	6.07974e-06	1	0	T	147114239	G	T	147114239	3	4	251	1	0	0	0	0	1	0	0	0	17776	1348	47	4	928	4	ZIC4	3	147114239	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	25699303	147114239	50908191	89	45047	343	2									
ZIC4	84107	broad.mit.edu	37	chr3	147114240	147114240	+	Missense_Mutation	SNP	G	G	T																															gcggtgagctgggggccatgGtgtccagagctgctacctgt																										TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:147114240G>T	ENST00000383075.3	-	3	599	c.87C>A	c.(85-87)caC>caA	p.H29Q	ZIC4_ENST00000473123.1_Missense_Mutation_p.H29Q|ZIC4_ENST00000425731.3_Missense_Mutation_p.H67Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.H79Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.H29Q|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	29						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGGGGCCATGGTGTCCAGAGC	0.697													11	42					5.50884e-06	1.0874e-05	1	0	T	147114240	G	T	147114240	3	4	251	1	0	0	0	0	1	0	0	0	17776	1252	44	4	929	4	ZIC4	3	147114240	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1	147114240	50908190	90	45048	343	2									
AGTR1	185	broad.mit.edu	37	chr3	148459339	148459339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgaaatgtatttttcattGagaacaccaatattacagtt	15	15	5	6	1	1	1	1	1	0	1	2	3	1	1	1	0	2	2	1	0	6	7			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:148459339G>A	ENST00000542281.1	+	4	963	c.517G>A	c.(517-519)Gag>Aag	p.E173K	AGTR1_ENST00000402260.1_Missense_Mutation_p.E173K|AGTR1_ENST00000475347.1_Missense_Mutation_p.E173K|AGTR1_ENST00000474935.1_Missense_Mutation_p.E173K|AGTR1_ENST00000404754.2_Missense_Mutation_p.E173K|AGTR1_ENST00000497524.1_Missense_Mutation_p.E173K|AGTR1_ENST00000461609.1_Missense_Mutation_p.E173K|AGTR1_ENST00000418473.2_Missense_Mutation_p.E173K|AGTR1_ENST00000349243.3_Missense_Mutation_p.E173K	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	173					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATTTTTCATTGAGAACACCAA	0.443													25	85					0	0	0	0	A	148459339	G	A	148459339	3	1	251	1	0	0	0	0	1	0	0	0	401	1291	45	2	519	2	AGTR1	3	148459339	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1345099	148459339	49563091	91	45049											
VEPH1	79674	broad.mit.edu	37	chr3	157146114	157146114	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacaatgtactttttacctcGagttgttttttctttgctgc	6	21	6	8	1	1	0	0	0	1	0	2	1	1	0	1	0	5	4	1	0	4	10			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:157146114G>A	ENST00000362010.2	-	5	1000	c.693C>T	c.(691-693)ctC>ctT	p.L231L	VEPH1_ENST00000392833.2_Silent_p.L231L|VEPH1_ENST00000543418.1_Silent_p.L231L|VEPH1_ENST00000392832.2_Silent_p.L231L|VEPH1_ENST00000469007.1_5'UTR	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	231						plasma membrane		p.L231L(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTTTTACCTCGAGTTGTTTTT	0.438													6	69					0	0	0	0	A	157146114	G	A	157146114	2	1	251	1	0	0	0	0	0	0	0	1	17250	1045	37	1		1	VEPH1	3	157146114	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	8686775	157146114	40876316	92	45050											
IFT80	57560	broad.mit.edu	37	chr3	160099354	160099354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttacacccaaactttttgGaaaccagtgaaaatcaatag	16	11	5	9	0	1	1	1	1	0	0	1	2	1	2	2	1	3	0	2	1	7	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:160099354G>A	ENST00000326448.7	-	3	628	c.196C>T	c.(196-198)Cca>Tca	p.P66S	IFT80_ENST00000496589.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	66						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAACTTTTTGGAAACCAGTGA	0.358													9	51					0	0	0	0	A	160099354	G	A	160099354	3	1	251	1	0	0	0	0	1	0	0	0	7617	1174	41	2	2209	2	IFT80	3	160099354	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	2953240	160099354	37923076	93	45051											
ABCC5	10057	broad.mit.edu	37	chr3	183707045	183707045	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggatgggcttcagagcacTcaagccatgatggtactttc	9	10	11	11	1	2	2	2	1	0	1	3	3	2	3	2	3	3	3	2	3	2	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr3:183707045T>C	ENST00000334444.6	-	3	496	c.256A>G	c.(256-258)Agt>Ggt	p.S86G	ABCC5_ENST00000382494.2_Missense_Mutation_p.S86G|ABCC5_ENST00000427120.2_Missense_Mutation_p.S86G|ABCC5_ENST00000392579.2_Missense_Mutation_p.S86G|ABCC5_ENST00000265586.6_Missense_Mutation_p.S86G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	86						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCAGAGCACTCAAGCCATGA	0.478													28	17					0	0	0	0	C	183707045	T	C	183707045	3	2	251	1	0	0	0	0	1	0	0	0	56	1551	54	5	4209	5	ABCC5	3	183707045	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	23607691	183707045	14315385	94	45052											
GPR125	166647	broad.mit.edu	37	chr4	22517230	22517230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcacaccaccttgccctCggcggcgcccgccgccctgc	3	5	11	22	5	0	0	0	0	0	0	1	0	0	0	6	2	3	2	6	2	0	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:22517230C>T	ENST00000334304.5	-	1	447	c.178G>A	c.(178-180)Gag>Aag	p.E60K	GPR125_ENST00000502482.1_Missense_Mutation_p.E60K	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	60					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ACCTTGCCCTCGGCGGCGCCC	0.761													11	11					0	0	0	0	T	22517230	C	T	22517230	3	4	251	1	0	0	0	0	1	0	0	0	6688	893	31	1	3863	1	GPR125	4	22517230	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08		22517230	168637046	95	45053											
PDS5A	23244	broad.mit.edu	37	chr4	39843630	39843630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataatcctcacagggttctCttcattttcactaactccag	11	14	4	12	0	4	0	3	0	1	0	7	0	6	0	2	1	1	1	2	1	3	6			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:39843630C>G	ENST00000303538.8	-	31	4134	c.3595G>C	c.(3595-3597)Gag>Cag	p.E1199Q		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1199					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACAGGGTTCTCTTCATTTTCA	0.343													4	41					0	0	0	0	G	39843630	C	G	39843630	3	3	251	1	0	0	0	0	1	0	0	0	11762	922	32	2	430	2	PDS5A	4	39843630	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	17326400	39843630	151310646	96	45054											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984115	41984115	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctccaagtacggcatcatCagcctgcgaactctgaagat	11	8	10	12	2	3	2	2	1	1	1	4	3	4	2	2	2	4	3	2	2	4	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:41984115C>T	ENST00000333141.5	+	1	403	c.306C>T	c.(304-306)atC>atT	p.I102I		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	102										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						ACGGCATCATCAGCCTGCGAA	0.557													17	42					0	0	0	0	T	41984115	C	T	41984115	2	4	251	1	0	0	0	0	0	0	0	1	4304	816	29	2		2	DCAF4L1	4	41984115	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	2140485	41984115	149170161	97	45055											
SHISA3	152573	broad.mit.edu	37	chr4	42403210	42403210	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgatcctgacctccacCagccccagggcaccctcccg	7	5	7	22	1	0	2	0	2	0	0	3	2	3	2	9	1	1	1	9	1	0	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:42403210C>G	ENST00000319234.4	+	2	677	c.459C>G	c.(457-459)acC>acG	p.T153T		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	153					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TGACCTCCACCAGCCCCAGGG	0.647													30	108					0	0	0	0	G	42403210	C	G	42403210	2	3	251	1	0	0	0	0	0	0	0	1	14369	581	21	4		4	SHISA3	4	42403210	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	419095	42403210	148751066	98	45056											
CHIC2	26511	broad.mit.edu	37	chr4	54880271	54880271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcccattctaataacttctCaatcgatcttcgtgtctgga	9	16	5	11	2	4	0	1	0	4	0	8	2	5	1	1	1	1	0	1	1	3	6			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:54880271C>T	ENST00000263921.3	-	4	735	c.346G>A	c.(346-348)Gag>Aag	p.E116K	CHIC2_ENST00000512964.1_Intron|FIP1L1_ENST00000507166.1_Intron	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	116						plasma membrane	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AATAACTTCTCAATCGATCTT	0.403			T	ETV6	AML								10	19					0	0	0	0	T	54880271	C	T	54880271	3	4	251	1	0	0	0	0	1	0	0	0	3373	835	29	2	163	2	CHIC2	4	54880271	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	12477061	54880271	136274005	99	45057											
POLR2B	5431	broad.mit.edu	37	chr4	57896492	57896492	+	Frame_Shift_Del	DEL	T	T	-																															tcaggttcatgtttgcaatcTttgtggaataatggcgattg																										TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:57896492delT	ENST00000381227.1	+	25	3775	c.3362delT	c.(3361-3363)ctfs	p.L1121fs	POLR2B_ENST00000431623.2_Frame_Shift_Del_p.L1046fs|POLR2B_ENST00000441246.2_Frame_Shift_Del_p.L1114fs|POLR2B_ENST00000314595.5_Frame_Shift_Del_p.L1121fs			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1121					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GTTTGCAATCTTTGTGGAATA	0.448													16	51	---	---	---	---					-	57896492	T	-	57896492	7	5	251	1	0	1	0	1	0	0	0	0	12287	1609	56	0	3456	0	POLR2B	4	57896492	Frame_Shift_Del	DEL	T	TCGA-CV-6936-01A-11D-1912-08	3016221	57896492	133257784	100	45058											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68925156	68925156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgcttatggtttccactCtggcttgccgaagtgtattt	6	16	10	9	1	1	0	0	0	1	0	2	1	2	0	2	2	2	4	2	2	3	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:68925156C>G	ENST00000356291.2	-	9	1105	c.1046G>C	c.(1045-1047)aGa>aCa	p.R349T	RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	349	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GGTTTCCACTCTGGCTTGCCG	0.358													12	21					0	0	0	0	G	68925156	C	G	68925156	3	3	251	1	0	0	0	0	1	0	0	0	16337	913	32	2	278	2	TMPRSS11F	4	68925156	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	11028664	68925156	122229120	101	45059											
COL25A1	84570	broad.mit.edu	37	chr4	109895698	109895698	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattttcttaccttatcgccTtttggaccaggagggccctg	6	14	9	12	1	1	0	0	0	1	0	2	2	1	2	4	3	1	0	4	3	2	6	rs142155024	by1000genomes	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr4:109895698T>C	ENST00000399132.1	-	7	986	c.456A>G	c.(454-456)aaA>aaG	p.K152K	COL25A1_ENST00000399126.1_Silent_p.K152K|COL25A1_ENST00000399127.1_Silent_p.K152K	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	152	Collagen-like 1.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.K152K(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCTTATCGCCTTTTGGACCAG	0.318													3	121					0	0	0	0	C	109895698	T	C	109895698	2	2	251	1	0	0	0	0	0	0	0	1	3714	1606	56	5		5	COL25A1	4	109895698	Silent	SNP	T	TCGA-CV-6936-01A-11D-1912-08	40970542	109895698	81258578	102	45060											
NDST4	64579	broad.mit.edu	37	chr4	115769459	115769459	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gagattgctgatgattgaagGatgcataagaagaaataaat	18	10	11	2	0	0	6	0	3	0	3	0	8	0	7	0	1	2	2	0	1	6	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:115769459G>C	ENST00000264363.2	-	9	2530	c.1852C>G	c.(1852-1854)Cct>Gct	p.P618A		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	618	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATGATTGAAGGATGCATAAGA	0.308													4	60					0	0	0	0	C	115769459	G	C	115769459	3	2	251	1	0	0	0	0	1	0	0	0	10328	1174	41	2	790	2	NDST4	4	115769459	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	5873761	115769459	75384817	103	45061											
QRFPR	84109	broad.mit.edu	37	chr4	122250496	122250496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtctaaaggagaattCtcagccagttcagacctaaa	14	9	7	11	0	3	2	2	0	2	2	4	3	3	2	3	1	1	1	3	1	5	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:122250496C>A	ENST00000394427.2	-	6	1680	c.1269G>T	c.(1267-1269)gaG>gaT	p.E423D	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	423						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AAGGAGAATTCTCAGCCAGTT	0.368													23	55					1.10513e-12	2.2737e-12	1	0	A	122250496	C	A	122250496	3	1	251	1	0	0	0	0	1	0	0	0	12960	912	32	2	30	2	QRFPR	4	122250496	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	6481037	122250496	68903780	104	45062											
HPGD	3248	broad.mit.edu	37	chr4	175414436	175414436	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacaaatggcattcagtctCacaccactgttcataagatt	13	11	7	10	0	3	1	3	0	1	1	4	2	3	2	1	2	0	2	1	2	2	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:175414436C>T	ENST00000296522.6	-	6	974	c.528G>A	c.(526-528)gtG>gtA	p.V176V	HPGD_ENST00000422112.2_Silent_p.V108V|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000541923.1_Silent_p.V55V|HPGD_ENST00000510901.1_Silent_p.V55V|HPGD_ENST00000296521.7_Intron	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	176					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	CATTCAGTCTCACACCACTGT	0.363													9	45					0	0	0	0	T	175414436	C	T	175414436	2	4	251	1	0	0	0	0	0	0	0	1	7384	813	29	2		2	HPGD	4	175414436	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	53163940	175414436	15739840	105	45063											
ADAM29	11086	broad.mit.edu	37	chr4	175897135	175897135	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggtatacaagatggaCagtgaggagaaacaattttc	15	10	10	6	0	1	3	0	1	1	2	2	5	1	4	0	3	2	1	0	3	5	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:175897135C>T	ENST00000359240.3	+	5	1129	c.459C>T	c.(457-459)gaC>gaT	p.D153D	ADAM29_ENST00000514159.1_Silent_p.D153D|ADAM29_ENST00000404450.4_Silent_p.D153D|ADAM29_ENST00000445694.1_Silent_p.D153D	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	153					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACAAGATGGACAGTGAGGAGA	0.363													19	67					0	0	0	0	T	175897135	C	T	175897135	2	4	251	1	0	0	0	0	0	0	0	1	247	477	17	4		4	ADAM29	4	175897135	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	482699	175897135	15257141	106	45064											
SNX25	83891	broad.mit.edu	37	chr4	186231908	186231908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatccgaatcctgggaggcCctgcctatgaccagcaagag	11	6	12	12	1	0	2	0	1	0	1	2	5	2	3	5	2	2	1	5	2	4	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:186231908C>A	ENST00000504273.1	+	7	1084	c.790C>A	c.(790-792)Cct>Act	p.P264T	SNX25_ENST00000264694.8_Missense_Mutation_p.P264T|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	264					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CCTGGGAGGCCCTGCCTATGA	0.512													14	80					4.14922e-12	8.45993e-12	1	0	A	186231908	C	A	186231908	3	1	251	1	0	0	0	0	1	0	0	0	14984	623	22	4	812	4	SNX25	4	186231908	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	10334773	186231908	4922368	107	45065											
ANKRD37	353322	broad.mit.edu	37	chr4	186318369	186318369	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacccccggatccctgcaaGcagtcgcctgtccacttagc	7	7	9	18	2	0	0	0	0	0	0	3	1	2	1	5	1	3	3	5	1	2	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:186318369G>A	ENST00000335174.4	+	2	533	c.93G>A	c.(91-93)aaG>aaA	p.K31K	ANKRD37_ENST00000507479.1_3'UTR	NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	31						cytoplasm|nucleus				NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		ATCCCTGCAAGCAGTCGCCTG	0.592													14	73					0	0	0	0	A	186318369	G	A	186318369	2	1	251	1	0	0	0	0	0	0	0	1	666	962	34	4		4	ANKRD37	4	186318369	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	86461	186318369	4835907	108	45066											
FAT1	2195	broad.mit.edu	37	chr4	187628386	187628386	+	Frame_Shift_Del	DEL	C	C	-																															gctgtcaattgaaaatgtgtCtgtgtctgtaacaattgagt																										TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:187628386delC	ENST00000441802.2	-	2	2805	c.2596delG	c.(2596-2598)acfs	p.D866fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	866	Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAAAATGTGTCTGTGTCTGTA	0.493										HNSCC(5;0.00058)			21	32	---	---	---	---					-	187628386	C	-	187628386	7	5	251	1	0	1	0	1	0	0	0	0	5734	913	32	0	11274	0	FAT1	4	187628386	Frame_Shift_Del	DEL	C	TCGA-CV-6936-01A-11D-1912-08	1310017	187628386	3525890	109	45067											
FAT1	2195	broad.mit.edu	37	chr4	187630110	187630110	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacctgccacgatgcttaaaGatgctatgtcaccattggca	11	10	8	12	1	1	1	1	0	0	1	1	2	1	1	3	1	3	3	3	1	3	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr4:187630110G>C	ENST00000441802.2	-	2	1081	c.872C>G	c.(871-873)tCt>tGt	p.S291C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	291					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATGCTTAAAGATGCTATGTC	0.488										HNSCC(5;0.00058)			20	173					0	0	0	0	C	187630110	G	C	187630110	3	2	251	1	0	0	0	0	1	0	0	0	5734	942	33	2	12998	2	FAT1	4	187630110	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1724	187630110	3524166	110	45068											
DNAH5	1767	broad.mit.edu	37	chr5	13901432	13901432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccatcctgttgtaactgcGaattataggtttggcttctg	7	15	11	8	1	1	0	0	0	1	0	2	1	2	0	2	3	2	4	2	3	4	6			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:13901432G>A	ENST00000265104.4	-	14	2085	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	661	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R661C(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGTAACTGCGAATTATAGGT	0.532									Kartagener syndrome				16	30					0	0	0	0	A	13901432	G	A	13901432	3	1	251	1	0	0	0	0	1	0	0	0	4641	1058	37	1	12157	1	DNAH5	5	13901432	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08		13901432	167013828	111	45069											
CDH9	1007	broad.mit.edu	37	chr5	26881405	26881405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattcccttcataggcatacGttgccagcgaatcatatgga	11	11	8	11	2	2	0	2	0	0	0	3	2	3	1	2	2	3	2	2	2	4	6			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:26881405G>A	ENST00000231021.4	-	12	2382	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	737					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATAGGCATACGTTGCCAGCGA	0.423													29	72					0	0	0	0	A	26881405	G	A	26881405	3	1	251	1	0	0	0	0	1	0	0	0	3146	1145	40	1	163	1	CDH9	5	26881405	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	12979973	26881405	154033855	112	45070											
PRLR	5618	broad.mit.edu	37	chr5	35086419	35086419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaacgacatttaaagatctCaggttttccaggaggtaact	14	11	9	7	1	1	2	1	0	1	2	3	4	2	3	1	3	2	2	1	3	4	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:35086419C>G	ENST00000382002.5	-	4	520	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	PRLR_ENST00000342362.5_Intron|PRLR_ENST00000348262.3_Missense_Mutation_p.E32Q|PRLR_ENST00000231423.3_Missense_Mutation_p.E32Q|PRLR_ENST00000513753.1_Missense_Mutation_p.E32Q|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000310101.5_Missense_Mutation_p.E32Q|PRLR_ENST00000542609.1_Missense_Mutation_p.E32Q|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	32	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTAAAGATCTCAGGTTTTCCA	0.448													16	55					0	0	0	0	G	35086419	C	G	35086419	3	3	251	1	0	0	0	0	1	0	0	0	12611	835	29	2	1802	2	PRLR	5	35086419	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	8205014	35086419	145828841	113	45071											
PAIP1	10605	broad.mit.edu	37	chr5	43539127	43539127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatctttaacttcatattCagtccgacatctaattaaag	13	16	4	8	1	4	1	2	1	2	0	5	2	5	1	1	0	1	0	1	0	5	8			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:43539127C>T	ENST00000306846.3	-	5	977	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	PAIP1_ENST00000436644.2_Missense_Mutation_p.E170K|PAIP1_ENST00000514514.1_Missense_Mutation_p.E170K|PAIP1_ENST00000338972.4_Missense_Mutation_p.E137K	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	249	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ACTTCATATTCAGTCCGACAT	0.333													21	54					0	0	0	0	T	43539127	C	T	43539127	3	4	251	1	0	0	0	0	1	0	0	0	11467	835	29	2	722	2	PAIP1	5	43539127	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	8452708	43539127	137376133	114	45072											
SNX18	112574	broad.mit.edu	37	chr5	53814496	53814496	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccaccttcgtcaagtcCggcggggaggccttcgtgct	4	11	12	14	4	2	0	1	0	1	0	6	1	3	1	4	4	1	1	4	4	1	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:53814496C>T	ENST00000343017.6	+	1	908	c.714C>T	c.(712-714)tcC>tcT	p.S238S	SNX18_ENST00000326277.3_Silent_p.S238S|SNX18_ENST00000381410.4_Silent_p.S238S	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	238					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TCGTCAAGTCCGGCGGGGAGG	0.706													20	45					0	0	0	0	T	53814496	C	T	53814496	2	4	251	1	0	0	0	0	0	0	0	1	14977	639	23	1		1	SNX18	5	53814496	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	10275369	53814496	127100764	115	45073											
ANKRD34B	340120	broad.mit.edu	37	chr5	79854712	79854712	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggaggggtaaggccagctGagagctgggaatcagagctg	10	7	18	6	0	1	2	1	1	0	2	1	5	1	4	1	5	3	4	1	5	2	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:79854712G>C	ENST00000338682.3	-	5	1799	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	376						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AAGGCCAGCTGAGAGCTGGGA	0.438													6	39					0	0	0	0	C	79854712	G	C	79854712	4	2	251	1	0	0	0	0	0	1	0	0	662	1294	45	2	421	2	ANKRD34B	5	79854712	Nonsense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	26040216	79854712	101060548	116	45074											
TTC37	9652	broad.mit.edu	37	chr5	94842673	94842673	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatttcttattgcaacattGtaagtatcttggtcttctgc	9	19	6	7	0	4	0	0	0	4	0	4	0	4	0	0	1	3	3	0	1	5	9			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:94842673G>A	ENST00000358746.2	-	30	3355	c.3057C>T	c.(3055-3057)taC>taT	p.Y1019Y	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1019							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTGCAACATTGTAAGTATCTT	0.323													15	32					0	0	0	0	A	94842673	G	A	94842673	2	1	251	1	0	0	0	0	0	0	0	1	16801	1372	48	4		4	TTC37	5	94842673	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	14987961	94842673	86072587	117	45075											
LNPEP	4012	broad.mit.edu	37	chr5	96320825	96320825	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaacccctggcagcaagatCtgcttttccttgttttgatg	7	15	9	10	0	1	3	0	2	1	1	2	3	2	3	3	1	3	4	3	1	2	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:96320825C>G	ENST00000231368.5	+	3	1594	c.902C>G	c.(901-903)tCt>tGt	p.S301C	LNPEP_ENST00000395770.3_Missense_Mutation_p.S287C	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	301				S -> L (in Ref. 6; AA sequence).	cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GCAGCAAGATCTGCTTTTCCT	0.403													22	87					0	0	0	0	G	96320825	C	G	96320825	3	3	251	1	0	0	0	0	1	0	0	0	8919	913	32	2	912	2	LNPEP	5	96320825	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	1478152	96320825	84594435	118	45076											
NRG2	9542	broad.mit.edu	37	chr5	139231379	139231379	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagtcagaagtcaggcTctcagaacgttccaggctcc	9	8	12	12	1	3	2	3	0	1	2	6	3	5	3	2	3	1	3	2	3	2	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:139231379T>A	ENST00000541337.1	-	7	1613	c.1384A>T	c.(1384-1386)Agc>Tgc	p.S462C	NRG2_ENST00000289409.4_Missense_Mutation_p.S522C|NRG2_ENST00000358522.3_Missense_Mutation_p.S530C|NRG2_ENST00000340391.3_Missense_Mutation_p.S325C|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000361474.1_Missense_Mutation_p.S528C|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000545385.1_Missense_Mutation_p.S530C|NRG2_ENST00000289422.7_Missense_Mutation_p.S536C	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	528					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGTCAGGCTCTCAGAACGT	0.632													7	32					0	0	0	0	A	139231379	T	A	139231379	3	1	251	1	0	0	0	0	1	0	0	0	10719	1551	54	5	978	5	NRG2	5	139231379	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	42910554	139231379	41683881	119	45077											
PCDHA5	56143	broad.mit.edu	37	chr5	140203557	140203557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgaggccgtgtgcacaCggggcaagcccactctgttg	7	6	13	15	3	1	0	0	0	1	0	1	1	1	0	4	3	2	3	4	3	1	1	rs140039635		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:140203557C>T	ENST00000529859.1	+	1	2197	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	PCDHA5_ENST00000529619.1_Missense_Mutation_p.R733W|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R733W|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGTGCACACGGGGCAAGCC	0.662													15	33					0	0	0	0	T	140203557	C	T	140203557	3	4	251	1	0	0	0	0	1	0	0	0	11598	527	19	1	2199	1	PCDHA5	5	140203557	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	972178	140203557	40711703	120	45078											
PCDHB1	29930	broad.mit.edu	37	chr5	140433131	140433131	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccactaaatatttggtCatttctctggtcatcctttc	8	17	4	12	0	3	0	2	0	1	0	7	0	5	0	3	2	0	0	3	2	3	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:140433131C>A	ENST00000306549.3	+	1	2153	c.2076C>A	c.(2074-2076)gtC>gtA	p.V692V		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		692					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATATTTGGTCATTTCTCTGG	0.388													22	82					1.96895e-08	3.93212e-08	1	0	A	140433131	C	A	140433131	2	1	251	1	0	0	0	0	0	0	0	1	11605	813	29	2		2	PCDHB1	5	140433131	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	229574	140433131	40482129	121	45079											
PCDHGA5	56110	broad.mit.edu	37	chr5	140746180	140746180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgaggtctccctcaccgcGgactcgaggaagagtcacct	9	6	11	15	4	3	1	2	0	1	1	5	5	3	3	3	3	0	0	3	3	1	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:140746180G>A	ENST00000518069.1	+	1	2283	c.2283G>A	c.(2281-2283)gcG>gcA	p.A761A	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCACCGCGGACTCGAGGA	0.592													13	136					0	0	0	0	A	140746180	G	A	140746180	2	1	251	1	0	0	0	0	0	0	0	1	11628	1103	39	1		1	PCDHGA5	5	140746180	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	313049	140746180	40169080	122	45080											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789449	140789449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgcaatgacaacgcaccGcgggtgctgtacccagctct	9	6	11	15	4	1	1	0	1	1	0	1	2	1	1	3	1	4	5	3	1	3	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:140789449G>A	ENST00000520790.1	+	1	1680	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACGCACCGCGGGTGCTGT	0.662													6	22					0	0	0	0	A	140789449	G	A	140789449	2	1	251	1	0	0	0	0	0	0	0	1	11638	1074	38	1		1	PCDHGB6	5	140789449	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	43269	140789449	40125811	123	45081											
SPARC	6678	broad.mit.edu	37	chr5	151052775	151052775	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggattagctcccacagaTacctggaattgagggagaag	14	7	12	8	0	0	3	0	1	0	2	1	6	1	5	2	3	2	1	2	3	4	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:151052775T>C	ENST00000231061.4	-	4	436	c.123A>G	c.(121-123)gtA>gtG	p.V41V		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	41	Asp/Glu-rich (acidic; binds calcium).				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	CTCCCACAGATACCTGGAATT	0.522													34	67					0	0	0	0	C	151052775	T	C	151052775	2	2	251	1	0	0	0	0	0	0	0	1	15085	1393	49	5		5	SPARC	5	151052775	Silent	SNP	T	TCGA-CV-6936-01A-11D-1912-08	10263326	151052775	29862485	124	45082											
HK3	3101	broad.mit.edu	37	chr5	176308467	176308467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctagcaccatcagggcGtcatctgaggtcaggggtag	9	8	13	11	1	5	1	3	1	2	0	5	1	5	1	2	4	1	2	2	4	2	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:176308467G>A	ENST00000292432.5	-	18	2554	c.2463C>T	c.(2461-2463)gaC>gaT	p.D821D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	821	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATCAGGGCGTCATCTGAGG	0.652													9	17					0	0	0	0	A	176308467	G	A	176308467	2	1	251	1	0	0	0	0	0	0	0	1	7242	1136	40	1		1	HK3	5	176308467	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	25255692	176308467	4606793	125	45083											
FLT4	2324	broad.mit.edu	37	chr5	180057046	180057046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagtggcgtggacacgagCatgccccgccggtcatccca	8	5	13	15	4	1	0	1	0	0	0	2	2	2	1	4	3	3	2	4	3	0	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr5:180057046C>A	ENST00000261937.6	-	5	651	c.573G>T	c.(571-573)atG>atT	p.M191I	FLT4_ENST00000502649.1_Missense_Mutation_p.M191I|FLT4_ENST00000393347.3_Missense_Mutation_p.M191I|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	191	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGACACGAGCATGCCCCGCC	0.637													7	29					1.58986e-06	3.15655e-06	1	0	A	180057046	C	A	180057046	3	1	251	1	0	0	0	0	1	0	0	0	5989	710	25	4	3630	4	FLT4	5	180057046	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	3748579	180057046	858214	126	45084											
SSR1	6745	broad.mit.edu	37	chr6	7301699	7301699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggatataaaactggtaGtcctgaggataacggaatga	14	11	11	5	1	1	2	0	2	1	0	2	5	2	5	1	4	2	1	1	4	6	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:7301699G>T	ENST00000244763.4	-	4	473	c.387C>A	c.(385-387)gaC>gaA	p.D129E	SSR1_ENST00000489567.1_Intron|SSR1_ENST00000462112.1_Missense_Mutation_p.D129E|SSR1_ENST00000474597.1_Missense_Mutation_p.D129E|SSR1_ENST00000488834.1_5'UTR|SSR1_ENST00000479365.1_Missense_Mutation_p.D129E|SSR1_ENST00000534851.1_Missense_Mutation_p.D102E|SSR1_ENST00000397511.2_Missense_Mutation_p.D129E	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	129					cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					AAAACTGGTAGTCCTGAGGAT	0.428													23	57					3.7963e-18	7.90607e-18	1	0	T	7301699	G	T	7301699	3	4	251	1	0	0	0	0	1	0	0	0	15280	1020	36	4	493	4	SSR1	6	7301699	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08		7301699	163813368	127	45085											
OR10C1	442194	broad.mit.edu	37	chr6	29407891	29407891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctctgtctttctcactatCtacctgctgaccgtggcagg	5	15	8	13	1	4	1	1	1	4	0	6	1	4	1	2	2	2	2	2	2	2	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:29407891C>T	ENST00000444197.2	+	1	809	c.99C>T	c.(97-99)atC>atT	p.I33I	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCTCACTATCTACCTGCTGA	0.557													31	59					0	0	0	0	T	29407891	C	T	29407891	2	4	251	1	0	0	0	0	0	0	0	1	10969	903	32	2		2	OR10C1	6	29407891	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	22106192	29407891	141707176	128	45086											
NRM	11270	broad.mit.edu	37	chr6	30658649	30658649	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agactccgggatccctccaaGaagtggccgaagggaggtaa	12	5	14	10	2	0	2	0	0	0	2	3	5	3	4	4	4	0	1	4	4	4	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:30658649G>C	ENST00000259953.4	-	2	454	c.103C>G	c.(103-105)Ctt>Gtt	p.L35V	NRM_ENST00000376420.5_Missense_Mutation_p.L35V|NRM_ENST00000376421.5_Missense_Mutation_p.L35V|NRM_ENST00000470733.1_5'UTR	NM_001270707.1	NP_001257636.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	35						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						ATCCCTCCAAGAAGTGGCCGA	0.642													21	47					0	0	0	0	C	30658649	G	C	30658649	3	2	251	1	0	0	0	0	1	0	0	0	10728	942	33	2	701	2	NRM	6	30658649	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1250758	30658649	140456418	129	45087											
CYP21A2	1589	broad.mit.edu	37	chr6	32007955	32007955	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacaccctctcctgggcCgtggtttttttgcttcacca	6	13	8	14	1	2	0	1	0	1	0	3	0	2	0	4	2	2	3	4	2	1	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:32007955C>T	ENST00000418967.2	+	7	1070	c.912C>T	c.(910-912)gcC>gcT	p.A304A	CYP21A2_ENST00000435122.2_Silent_p.A274A	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	303			V -> M (in hyperandrogenism; due to 21- hydroxylase deficiency; non-classic type; residual activity of 46% for conversion of 17-hydroxyprogesterone and 26% for conversion of progesterone compared with the normal enzyme).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						TCTCCTGGGCCGTGGTTTTTT	0.617													30	111					0	0	0	0	T	32007955	C	T	32007955	2	4	251	1	0	0	0	0	0	0	0	1	4185	639	23	1		1	CYP21A2	6	32007955	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	1349306	32007955	139107112	130	45088											
FKBPL	63943	broad.mit.edu	37	chr6	32097359	32097359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttcagcaaccagtttttCagctccttgagtatgctcta	10	14	7	10	0	3	1	2	1	1	0	4	1	4	1	2	0	4	6	2	0	4	6			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:32097359C>T	ENST00000375156.3	-	2	469	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	67					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										ACCAGTTTTTCAGCTCCTTGA	0.512													11	66					0	0	0	0	T	32097359	C	T	32097359	3	4	251	1	0	0	0	0	1	0	0	0	5961	835	29	2	854	2	FKBPL	6	32097359	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	89404	32097359	139017708	131	45089											
DNAH8	1769	broad.mit.edu	37	chr6	38821072	38821072	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatccgctttctatcaaatCagtgattcaggatttcaact	12	14	6	9	1	5	2	4	1	1	1	6	3	6	3	1	1	1	1	1	1	3	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:38821072C>G	ENST00000359357.3	+	39	5285	c.5031C>G	c.(5029-5031)atC>atG	p.I1677M	DNAH8_ENST00000449981.2_Missense_Mutation_p.I1894M|DNAH8_ENST00000441566.1_Missense_Mutation_p.I1677M					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTATCAAATCAGTGATTCAG	0.368													19	32					0	0	0	0	G	38821072	C	G	38821072	3	3	251	1	0	0	0	0	1	0	0	0	4643	816	29	2	5177	2	DNAH8	6	38821072	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	6723713	38821072	132293995	132	45090											
BYSL	705	broad.mit.edu	37	chr6	41900357	41900357	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaactgctccggctgcagccCcatccacagctatcgcccga	8	6	9	18	3	0	0	0	0	0	0	3	2	2	0	5	1	5	4	5	1	2	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:41900357C>T	ENST00000230340.4	+	7	1602	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	409					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCTGCAGCCCCATCCACAGC	0.587													12	64					0	0	0	0	T	41900357	C	T	41900357	2	4	251	1	0	0	0	0	0	0	0	1	1585	610	22	4		4	BYSL	6	41900357	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	3079285	41900357	129214710	133	45091											
SENP6	26054	broad.mit.edu	37	chr6	76344433	76344433	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgcagtgaaaatacgCaaaatacgtcattatgttct	15	12	7	7	2	3	1	1	1	2	0	3	2	3	1	0	0	3	3	0	0	8	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:76344433C>T	ENST00000370014.3	+	5	983	c.364C>T	c.(364-366)Caa>Taa	p.Q122*	SENP6_ENST00000327284.8_Nonsense_Mutation_p.Q122*|SENP6_ENST00000447266.2_Nonsense_Mutation_p.Q122*|SENP6_ENST00000370010.2_Nonsense_Mutation_p.Q122*	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	122					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TGAAAATACGCAAAATACGTC	0.318													8	18					0	0	0	0	T	76344433	C	T	76344433	4	4	251	1	0	0	0	0	0	1	0	0	14137	711	25	4	382	4	SENP6	6	76344433	Nonsense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	34444076	76344433	94770634	134	45092											
PREP	5550	broad.mit.edu	37	chr6	105816838	105816838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacaaaatatcttctgaCtgatcggttcccaagacatg	13	10	7	11	1	2	3	0	2	2	1	4	3	3	3	1	1	0	2	1	1	4	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:105816838C>A	ENST00000369110.3	-	6	849	c.657G>T	c.(655-657)caG>caT	p.Q219H		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	219					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TATCTTCTGACTGATCGGTTC	0.418													23	33					5.35356e-11	1.07863e-10	1	0	A	105816838	C	A	105816838	3	1	251	1	0	0	0	0	1	0	0	0	12554	564	20	4	1515	4	PREP	6	105816838	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	29472405	105816838	65298229	135	45093											
FRK	2444	broad.mit.edu	37	chr6	116265528	116265528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actccagataggccattccaGaggcaacctgtgccgccatg	10	7	10	14	1	0	2	0	0	0	2	2	2	2	2	6	2	2	1	6	2	2	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:116265528G>A	ENST00000606080.1	-	6	1465	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F	FRK_ENST00000538210.1_Missense_Mutation_p.S198F	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	340	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GGCCATTCCAGAGGCAACCTG	0.418													10	40					0	0	0	0	A	116265528	G	A	116265528	3	1	251	1	0	0	0	0	1	0	0	0	6096	942	33	2	510	2	FRK	6	116265528	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	10448690	116265528	54849539	136	45094											
GRM1	2911	broad.mit.edu	37	chr6	146720758	146720758	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtccgcatgcatgttggCgatggcaagctgccctgccg	5	10	14	12	3	0	0	0	0	0	0	1	1	1	0	3	2	4	6	3	2	1	2	rs148042148		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:146720758C>T	ENST00000392299.2	+	8	3053	c.2583C>T	c.(2581-2583)ggC>ggT	p.G861G	GRM1_ENST00000492807.2_Silent_p.G861G|GRM1_ENST00000361719.2_Silent_p.G861G|GRM1_ENST00000507907.1_Silent_p.G861G|GRM1_ENST00000282753.1_Silent_p.G861G|GRM1_ENST00000355289.4_Silent_p.G861G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	861					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGCATGTTGGCGATGGCAAGC	0.522													12	25					0	0	0	0	T	146720758	C	T	146720758	2	4	251	1	0	0	0	0	0	0	0	1	6846	755	27	1		1	GRM1	6	146720758	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	30455230	146720758	24394309	137	45095											
TAB2	23118	broad.mit.edu	37	chr6	149699950	149699950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaccaccaaccattcattCatctggtagctcacagtctt	12	11	4	14	0	5	0	3	0	2	0	5	0	5	0	3	1	3	2	3	1	3	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:149699950C>T	ENST00000367456.1	+	4	1476	c.899C>T	c.(898-900)tCa>tTa	p.S300L	TAB2_ENST00000538427.1_Missense_Mutation_p.S300L|TAB2_ENST00000536230.1_Missense_Mutation_p.S268L|TAB2_ENST00000286332.5_Missense_Mutation_p.S300L|TAB2_ENST00000392282.1_Missense_Mutation_p.S300L			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	300					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACCATTCATTCATCTGGTAGC	0.433													9	82					0	0	0	0	T	149699950	C	T	149699950	3	4	251	1	0	0	0	0	1	0	0	0	15587	838	29	2	905	2	TAB2	6	149699950	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	2979192	149699950	21415117	138	45096											
SYNE1	23345	broad.mit.edu	37	chr6	152737810	152737810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catccagactgacggcagcaGattctaatgctttagcattt	11	12	8	10	1	1	3	0	1	1	2	2	3	2	3	1	1	3	4	1	1	2	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:152737810G>A	ENST00000367255.5	-	41	6363	c.5762C>T	c.(5761-5763)tCt>tTt	p.S1921F	SYNE1_ENST00000341594.5_Missense_Mutation_p.S1958F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1921F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1928F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1928F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1921					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACGGCAGCAGATTCTAATGC	0.453										HNSCC(10;0.0054)			21	46					0	0	0	0	A	152737810	G	A	152737810	3	1	251	1	0	0	0	0	1	0	0	0	15536	942	33	2	21128	2	SYNE1	6	152737810	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	3037860	152737810	18377257	139	45097											
PDE10A	10846	broad.mit.edu	37	chr6	165792780	165792780	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaggtctgtggcaatgaTggctttgcggatgatctcaa	10	11	13	7	1	2	2	1	2	2	0	3	3	2	3	0	4	2	3	0	4	3	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr6:165792780T>A	ENST00000366882.1	-	19	2012	c.1858A>T	c.(1858-1860)Atc>Ttc	p.I620F	PDE10A_ENST00000539869.2_Missense_Mutation_p.I630F|PDE10A_ENST00000354448.4_Missense_Mutation_p.I620F			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	620					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTGGCAATGATGGCTTTGCGG	0.413													7	41					0	0	0	0	A	165792780	T	A	165792780	3	1	251	1	0	0	0	0	1	0	0	0	11701	1464	51	5	501	5	PDE10A	6	165792780	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	13054970	165792780	5322287	140	45098											
SFRP4	6424	broad.mit.edu	37	chr7	37956080	37956080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcctcgcagggcgcgccGcgcacgcccagcgccaggtg	5	2	15	19	8	0	0	0	0	0	0	1	0	0	0	5	2	1	2	5	2	0	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:37956080G>A	ENST00000436072.2	-	1	437	c.60C>T	c.(58-60)cgC>cgT	p.R20R	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	20	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGGGCGCGCCGCGCACGCCCA	0.682													19	32					0	0	0	0	A	37956080	G	A	37956080	2	1	251	1	0	0	0	0	0	0	0	1	14250	1074	38	1		1	SFRP4	7	37956080	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08		37956080	121182583	141	45099											
ABCA13	154664	broad.mit.edu	37	chr7	48318187	48318187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttataaataattcattccctCtaagaaacagagcaacatta	18	12	3	8	0	2	2	1	0	1	2	3	2	3	2	1	0	3	1	1	0	8	7			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:48318187C>G	ENST00000435803.1	+	18	7420	c.7396C>G	c.(7396-7398)Cta>Gta	p.L2466V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2466					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						TTCATTCCCTCTAAGAAACAG	0.358													12	129					0	0	0	0	G	48318187	C	G	48318187	3	3	251	1	0	0	0	0	1	0	0	0	31	912	32	2	7295	2	ABCA13	7	48318187	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	10362107	48318187	110820476	142	45100											
WBSCR17	64409	broad.mit.edu	37	chr7	70853278	70853278	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atatccatcatattcatcttCgtgaacgaggccctgtcggt	9	13	8	11	3	3	1	2	1	1	0	6	2	4	1	2	2	1	0	2	2	3	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:70853278C>G	ENST00000333538.5	+	3	1114	c.480C>G	c.(478-480)ttC>ttG	p.F160L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	160	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TATTCATCTTCGTGAACGAGG	0.527													6	67					0	0	0	0	G	70853278	C	G	70853278	3	3	251	1	0	0	0	0	1	0	0	0	17360	883	31	3	490	3	WBSCR17	7	70853278	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	22535091	70853278	88285385	143	45101											
PCLO	27445	broad.mit.edu	37	chr7	82475906	82475906	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttggtggctcatgaagtTccagatgctgggaattttca	8	15	11	7	0	2	2	2	1	0	1	3	3	3	3	1	3	1	3	1	3	2	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:82475906T>A	ENST00000423517.2	-	12	14145	c.13808A>T	c.(13807-13809)gAa>gTa	p.E4603V	PCLO_ENST00000333891.8_Missense_Mutation_p.E4603V|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4491	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTCATGAAGTTCCAGATGCTG	0.338													19	17					0	0	0	0	A	82475906	T	A	82475906	3	1	251	1	0	0	0	0	1	0	0	0	11654	1783	62	5	1693	5	PCLO	7	82475906	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	11622628	82475906	76662757	144	45102											
RUNDC3B	154661	broad.mit.edu	37	chr7	87258202	87258202	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtggcggcggaggcggcaaGaaaagcctgagcgcccgcaa	10	2	18	11	5	0	2	0	1	0	1	0	3	0	3	2	6	2	2	2	6	4	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:87258202G>C	ENST00000338056.3	+	1	474	c.63G>C	c.(61-63)aaG>aaC	p.K21N	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.K21N|ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.K21N	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	21										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GAGGCGGCAAGAAAAGCCTGA	0.716													4	11					0	0	0	0	C	87258202	G	C	87258202	3	2	251	1	0	0	0	0	1	0	0	0	13830	933	33	2	65	2	RUNDC3B	7	87258202	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	4782296	87258202	71880461	145	45103											
CYP3A7	1551	broad.mit.edu	37	chr7	99306662	99306662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaggggcctcctacctttCagggaggaacttctcaggct	7	9	11	14	0	2	0	2	0	1	0	4	2	3	2	4	5	2	1	4	5	2	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:99306662C>T	ENST00000336374.2	-	11	1251	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	417					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TCCTACCTTTCAGGGAGGAAC	0.512													18	89					0	0	0	0	T	99306662	C	T	99306662	3	4	251	1	0	0	0	0	1	0	0	0	4213	835	29	2	274	2	CYP3A7	7	99306662	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	12048460	99306662	59832001	146	45104											
MUC17	140453	broad.mit.edu	37	chr7	100676630	100676630	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacactggtggccagttctGaggctagcaccctttcaaca	9	9	9	14	0	2	1	1	1	1	0	2	1	2	1	3	3	2	3	3	3	2	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:100676630G>C	ENST00000306151.4	+	3	1997	c.1933G>C	c.(1933-1935)Gag>Cag	p.E645Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	645	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.483													115	469					0	0	0	0	C	100676630	G	C	100676630	3	2	251	1	0	0	0	0	1	0	0	0	10044	1291	45	2	1943	2	MUC17	7	100676630	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1369968	100676630	58462033	147	45105											
C7orf66	154907	broad.mit.edu	37	chr7	108524578	108524578	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccatcactgggtgtcatCacagccatcattttgcaagg	11	10	9	11	0	4	1	4	0	0	1	4	1	4	1	2	2	2	1	2	2	1	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:108524578C>G	ENST00000379007.2	-	1	66	c.12G>C	c.(10-12)gtG>gtC	p.V4V		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	4						integral to membrane		p.V4V(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TGGGTGTCATCACAGCCATCA	0.413													3	54					0	0	0	0	G	108524578	C	G	108524578	2	3	251	1	0	0	0	0	0	0	0	1	2435	813	29	2		2	C7orf66	7	108524578	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	7847948	108524578	50614085	148	45106											
FSCN3	29999	broad.mit.edu	37	chr7	127240328	127240328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgccctcaacttctgtatcGagcttcaggggagcaactta	9	12	9	11	1	3	0	2	0	1	0	4	2	3	1	1	2	5	3	1	2	4	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:127240328G>A	ENST00000265825.5	+	6	1591	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	FSCN3_ENST00000420086.2_Missense_Mutation_p.R322Q	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	458						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTTCTGTATCGAGCTTCAGGG	0.537													6	59					0	0	0	0	A	127240328	G	A	127240328	3	1	251	1	0	0	0	0	1	0	0	0	6117	1059	37	1	1394	1	FSCN3	7	127240328	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	18715750	127240328	31898335	149	45107											
LRGUK	136332	broad.mit.edu	37	chr7	133812362	133812362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacggagatgaggaccaggGcgagggcgaggcgggatccg	9	2	22	8	5	0	2	0	1	0	1	1	8	1	5	2	7	0	0	2	7	0	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:133812362G>A	ENST00000285928.2	+	1	311	c.242G>A	c.(241-243)gGc>gAc	p.G81D	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	81							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAGGACCAGGGCGAGGGCGAG	0.612													7	40					0	0	0	0	A	133812362	G	A	133812362	3	1	251	1	0	0	0	0	1	0	0	0	9007	1203	42	4	244	4	LRGUK	7	133812362	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	6572034	133812362	25326301	150	45108											
KIAA1549	57670	broad.mit.edu	37	chr7	138603487	138603487	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacggtatagtaatgccGtcgcctaacggctgtggcat	9	9	13	10	4	0	0	0	0	0	0	1	0	0	0	2	4	3	5	2	4	5	4	rs79934303	by1000genomes	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr7:138603487G>A	ENST00000440172.1	-	2	933	c.885C>T	c.(883-885)gaC>gaT	p.D295D	KIAA1549_ENST00000422774.1_Silent_p.D295D|KIAA1549_ENST00000242365.4_Silent_p.D245D	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	295						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TAGTAATGCCGTCGCCTAACG	0.537			O	BRAF	pilocytic astrocytoma								16	54					0	0	0	0	A	138603487	G	A	138603487	2	1	251	1	0	0	0	0	0	0	0	1	8295	1136	40	1		1	KIAA1549	7	138603487	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	4791125	138603487	20535176	151	45109											
PARP12	64761	broad.mit.edu	37	chr7	139727113	139727113	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggccaggttctgtactcGctcaatcttctgaacaaagt	10	11	10	10	1	4	1	1	1	3	0	5	2	4	1	1	2	2	3	1	2	4	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:139727113G>A	ENST00000263549.3	-	10	2464	c.1591C>T	c.(1591-1593)Cga>Tga	p.R531*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	531	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCTGTACTCGCTCAATCTTC	0.537													5	42					0	0	0	0	A	139727113	G	A	139727113	4	1	251	1	0	0	0	0	0	1	0	0	11528	1095	38	1	526	1	PARP12	7	139727113	Nonsense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1123626	139727113	19411550	152	45110											
ADCK2	90956	broad.mit.edu	37	chr7	140373236	140373236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctccgagtgccctcgcGatgccaggctctgctggctt	3	9	13	16	3	1	0	0	0	1	0	3	2	2	0	4	3	3	3	4	3	0	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:140373236G>T	ENST00000072869.4	+	1	284	c.106G>T	c.(106-108)Gat>Tat	p.D36Y	ADCK2_ENST00000476491.1_Missense_Mutation_p.D36Y	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	36						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GTGCCCTCGCGATGCCAGGCT	0.677													6	12					0.00116845	0.00226054	1	0	T	140373236	G	T	140373236	3	4	251	1	0	0	0	0	1	0	0	0	289	1058	37	3	108	3	ADCK2	7	140373236	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	646123	140373236	18765427	153	45111											
KEL	3792	broad.mit.edu	37	chr7	142643301	142643301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctctcacatacagcacttCgggtgctcgggccaaaggcc	9	7	11	14	2	1	0	1	0	1	0	4	0	1	0	2	3	4	3	2	3	2	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr7:142643301C>T	ENST00000355265.2	-	11	1781	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	436					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TACAGCACTTCGGGTGCTCGG	0.577													8	11					0	0	0	0	T	142643301	C	T	142643301	3	4	251	1	0	0	0	0	1	0	0	0	8194	884	31	1	927	1	KEL	7	142643301	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	2270065	142643301	16495362	154	45112											
CSMD1	64478	broad.mit.edu	37	chr8	3267046	3267046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcattcaaaggtgagtGtatctccatggaggaaactg	11	9	13	8	1	2	1	1	1	1	0	3	3	2	3	2	4	1	2	2	4	3	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:3267046G>T	ENST00000520002.1	-	14	2201	c.1646C>A	c.(1645-1647)aCa>aAa	p.T549K	CSMD1_ENST00000537824.1_Missense_Mutation_p.T548K|CSMD1_ENST00000602723.1_Missense_Mutation_p.T549K|CSMD1_ENST00000602557.1_Missense_Mutation_p.T549K|CSMD1_ENST00000542608.1_Missense_Mutation_p.T548K|CSMD1_ENST00000539096.1_Missense_Mutation_p.T548K|CSMD1_ENST00000400186.3_Missense_Mutation_p.T549K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	549	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGGTGAGTGTATCTCCATG	0.527													4	5					0.000602214	0.0011684	1	0	T	3267046	G	T	3267046	3	4	251	1	0	0	0	0	1	0	0	0	3976	1377	48	4		4	CSMD1	8	3267046	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08		3267046	143096976	155	45113											
DEFA4	1669	broad.mit.edu	37	chr8	6794410	6794410	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agaatagcagcgaggagggcGataatcctcatggctggggt	11	7	16	7	2	1	1	1	0	0	1	2	4	2	2	1	5	2	2	1	5	3	2	rs61749084	byFrequency	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:6794410G>C	ENST00000297435.2	-	2	136	c.12C>G	c.(10-12)atC>atG	p.I4M		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	4					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.I4I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CGAGGAGGGCGATAATCCTCA	0.622													4	9					0	0	0	0	C	6794410	G	C	6794410	3	2	251	1	0	0	0	0	1	0	0	0	4423	1048	37	3	289	3	DEFA4	8	6794410	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	3527364	6794410	139569612	156	45114											
KIF13B	23303	broad.mit.edu	37	chr8	28974435	28974435	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctggaccgtcacgcgcacGatcaggaacaaccgctcgtc	10	5	11	15	6	2	0	2	0	0	0	4	3	2	2	2	2	3	3	2	2	2	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:28974435G>A	ENST00000524189.1	-	31	3788	c.3750C>T	c.(3748-3750)atC>atT	p.I1250I	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1250					microtubule-based movement|protein targeting|signal transduction|T cell activation	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)		TCACGCGCACGATCAGGAACA	0.602													26	63					0	0	0	0	A	28974435	G	A	28974435	2	1	251	1	0	0	0	0	0	0	0	1	8326	1048	37	1		1	KIF13B	8	28974435	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	22180025	28974435	117389587	157	45115											
IKBKB	3551	broad.mit.edu	37	chr8	42179657	42179657	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaagaaagtgcgagtgatCtatacgcagctcaggtatga	14	8	13	6	2	2	4	1	2	1	2	2	6	2	4	0	1	3	3	0	1	5	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:42179657C>G	ENST00000520810.1	+	18	2010	c.1824C>G	c.(1822-1824)atC>atG	p.I608M	IKBKB_ENST00000416505.2_Missense_Mutation_p.I549M|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.I385M|IKBKB_ENST00000520835.1_Missense_Mutation_p.I606M	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	608					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TGCGAGTGATCTATACGCAGC	0.557													8	63					0	0	0	0	G	42179657	C	G	42179657	3	3	251	1	0	0	0	0	1	0	0	0	7664	903	32	2	1890	2	IKBKB	8	42179657	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	13205222	42179657	104184365	158	45116											
MOS	4342	broad.mit.edu	37	chr8	57025647	57025647	+	Missense_Mutation	SNP	G	G	A																															ctcgaagacggcagcggagaGggacgggcgcaggtcgtagg																										TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:57025647G>A	ENST00000311923.1	-	1	894	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	299	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCAGCGGAGAGGGACGGGCGC	0.687													9	31					0	0	0	0	A	57025647	G	A	57025647	3	1	251	1	0	0	0	0	1	0	0	0	9782	1000	35	4	148	4	MOS	8	57025647	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	14845990	57025647	89338375	159	45117	344	2									
MOS	4342	broad.mit.edu	37	chr8	57025648	57025648	+	Silent	SNP	G	G	A																															tcgaagacggcagcggagagGgacgggcgcaggtcgtaggc																										TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:57025648G>A	ENST00000311923.1	-	1	893	c.894C>T	c.(892-894)tcC>tcT	p.S298S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	298	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CAGCGGAGAGGGACGGGCGCA	0.682													9	33					0	0	0	0	A	57025648	G	A	57025648	2	1	251	1	0	0	0	0	0	0	0	1	9782	1219	43	4		4	MOS	8	57025648	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1	57025648	89338374	160	45118	344	2									
MYBL1	4603	broad.mit.edu	37	chr8	67514655	67514655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttgtcagataattacctCgtcccttgtccattttactc	8	16	4	13	1	1	1	1	0	0	1	5	1	3	1	4	0	2	0	4	0	3	6			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:67514655C>T	ENST00000522677.3	-	2	534	c.124G>A	c.(124-126)Gag>Aag	p.E42K	MYBL1_ENST00000517885.1_Missense_Mutation_p.E42K|MYBL1_ENST00000524176.2_Missense_Mutation_p.E42K	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	42	HTH myb-type 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ATAATTACCTCGTCCCTTGTC	0.408													16	45					0	0	0	0	T	67514655	C	T	67514655	3	4	251	1	0	0	0	0	1	0	0	0	10079	893	31	1	2194	1	MYBL1	8	67514655	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	10489007	67514655	78849367	161	45119											
CSPP1	79848	broad.mit.edu	37	chr8	68007843	68007843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcacagatttaatgaggatCgtgtttttgatagacggtat	11	16	10	4	2	1	4	1	2	0	2	2	5	1	5	0	2	0	2	0	2	3	7	rs114953032	by1000genomes	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:68007843C>T	ENST00000262210.5	+	6	857	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	311						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TAATGAGGATCGTGTTTTTGA	0.373													6	34					0	0	0	0	T	68007843	C	T	68007843	3	4	251	1	0	0	0	0	1	0	0	0	3994	884	31	1	961	1	CSPP1	8	68007843	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	493188	68007843	78356179	162	45120											
PRDM14	63978	broad.mit.edu	37	chr8	70964454	70964454	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcagcatgggatgcaaaaGatttaccacagtacttgcat	13	9	11	8	0	0	1	0	0	0	1	0	2	0	2	1	2	5	5	1	2	4	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:70964454G>C	ENST00000276594.2	-	8	1775	c.1574C>G	c.(1573-1575)tCt>tGt	p.S525C		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGATGCAAAAGATTTACCACA	0.517													19	121					0	0	0	0	C	70964454	G	C	70964454	3	2	251	1	0	0	0	0	1	0	0	0	12535	942	33	2	145	2	PRDM14	8	70964454	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	2956611	70964454	75399568	163	45121											
ZFHX4	79776	broad.mit.edu	37	chr8	77775694	77775694	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgcaggcattacagaaTgcaattgctggtgacccagc	11	9	11	10	0	0	2	0	1	0	1	0	2	0	2	1	2	5	5	1	2	3	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:77775694T>C	ENST00000521891.2	+	11	10192	c.9744T>C	c.(9742-9744)aaT>aaC	p.N3248N	ZFHX4_ENST00000518282.1_Silent_p.N3222N|ZFHX4_ENST00000050961.6_Silent_p.N3199N|ZFHX4_ENST00000455469.2_Silent_p.N3203N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATTACAGAATGCAATTGCTG	0.443										HNSCC(33;0.089)			39	134					0	0	0	0	C	77775694	T	C	77775694	2	2	251	1	0	0	0	0	0	0	0	1	17730	1461	51	5		5	ZFHX4	8	77775694	Silent	SNP	T	TCGA-CV-6936-01A-11D-1912-08	6811240	77775694	68588328	164	45122											
CNGB3	54714	broad.mit.edu	37	chr8	87645041	87645041	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattcaagagttgaaaaacaAtttcaaataaagtttgtggt	18	13	7	3	0	2	2	2	1	0	1	2	2	2	2	0	1	1	2	0	1	8	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:87645041A>G	ENST00000320005.5	-	11	1306	c.1259T>C	c.(1258-1260)aTt>aCt	p.I420T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	420					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTGAAAAACAATTTCAAATAA	0.353													14	19					0	0	0	0	G	87645041	A	G	87645041	3	3	251	1	0	0	0	0	1	0	0	0	3631	101	4	5	1202	5	CNGB3	8	87645041	Missense_Mutation	SNP	A	TCGA-CV-6936-01A-11D-1912-08	9869347	87645041	58718981	165	45123											
CNGB3	54714	broad.mit.edu	37	chr8	87738776	87738776	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacctgtttggaccttctttCccggggtccatttccttctg	3	16	8	14	1	2	0	0	0	2	0	5	1	5	1	5	3	0	1	5	3	0	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:87738776C>T	ENST00000320005.5	-	3	368	c.321G>A	c.(319-321)ggG>ggA	p.G107G	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	107			G -> R (in ACHM3; uncertain pathogenicity).		signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GACCTTCTTTCCCGGGGTCCA	0.453													64	241					0	0	0	0	T	87738776	C	T	87738776	2	4	251	1	0	0	0	0	0	0	0	1	3631	842	30	2		2	CNGB3	8	87738776	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	93735	87738776	58625246	166	45124											
OSGIN2	734	broad.mit.edu	37	chr8	90937360	90937360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtagactcaaatcttttatCtgattataccagctttcccg	10	16	5	10	1	3	2	1	1	2	1	4	2	4	2	2	0	2	2	2	0	5	6			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:90937360C>T	ENST00000451899.2	+	6	1510	c.1250C>T	c.(1249-1251)tCt>tTt	p.S417F	OSGIN2_ENST00000297438.2_Missense_Mutation_p.S373F	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	373					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AATCTTTTATCTGATTATACC	0.358													14	152					0	0	0	0	T	90937360	C	T	90937360	3	4	251	1	0	0	0	0	1	0	0	0	11361	913	32	2	1272	2	OSGIN2	8	90937360	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	3198584	90937360	55426662	167	45125											
CSMD3	114788	broad.mit.edu	37	chr8	113364752	113364752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtggttcaggacaggaatCcaaaccaattgctaagaata	15	10	9	7	0	1	1	1	0	0	1	2	3	2	3	2	3	2	2	2	3	6	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:113364752C>A	ENST00000297405.5	-	39	6392	c.6148G>T	c.(6148-6150)Gat>Tat	p.D2050Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.D2010Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1946Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1980Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2050	Sushi 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGACAGGAATCCAAACCAATT	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	70					2.17888e-05	4.27613e-05	1	0	A	113364752	C	A	113364752	3	1	251	1	0	0	0	0	1	0	0	0	3978	855	30	2	5107	2	CSMD3	8	113364752	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	22427392	113364752	32999270	168	45126											
ZFAT	57623	broad.mit.edu	37	chr8	135612760	135612760	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccatcggtgggacacttCagcaagatgttactgtgttt	9	12	11	9	1	1	1	1	0	0	1	2	2	1	2	1	2	3	3	1	2	2	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:135612760C>T	ENST00000520727.1	-	8	2657	c.2358G>A	c.(2356-2358)ctG>ctA	p.L786L	ZFAT_ENST00000520356.1_Silent_p.L786L|ZFAT_ENST00000520214.1_Silent_p.L786L|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000429442.2_Silent_p.L786L|ZFAT_ENST00000523399.1_Silent_p.L736L|ZFAT_ENST00000377838.3_Silent_p.L798L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGGGACACTTCAGCAAGATGT	0.438													26	109					0	0	0	0	T	135612760	C	T	135612760	2	4	251	1	0	0	0	0	0	0	0	1	17727	813	29	2		2	ZFAT	8	135612760	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	22248008	135612760	10751262	169	45127											
RHPN1	114822	broad.mit.edu	37	chr8	144464817	144464817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagcacccagggtggcCgtgagggccaggatccctgc	7	6	15	13	1	0	2	0	2	0	0	1	3	1	3	4	4	2	1	4	4	1	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:144464817C>T	ENST00000289013.6	+	15	2110	c.2009C>T	c.(2008-2010)cCg>cTg	p.P670L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	695					signal transduction	intracellular		p.P670Q(2)		endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CCAGGGTGGCCGTGAGGGCCA	0.687													16	14					0	0	0	0	T	144464817	C	T	144464817	3	4	251	1	0	0	0	0	1	0	0	0	13433	652	23	1	2067	1	RHPN1	8	144464817	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	8852057	144464817	1899205	170	45128											
PLEC	5339	broad.mit.edu	37	chr8	144996395	144996395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctgccgctgctgctcctCacgcagctgctgtgccttgg	2	11	12	16	2	1	0	1	0	0	0	2	0	2	0	3	1	7	7	3	1	0	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr8:144996395C>G	ENST00000322810.4	-	32	8174	c.8005G>C	c.(8005-8007)Gag>Cag	p.E2669Q	PLEC_ENST00000357649.2_Missense_Mutation_p.E2536Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2532Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2559Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2510Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2500Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2555Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2518Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2532Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2669	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						tgctgctCCTCACGCAGCTGC	0.672													3	12					0	0	0	0	G	144996395	C	G	144996395	3	3	251	1	0	0	0	0	1	0	0	0	12124	835	29	2	6053	2	PLEC	8	144996395	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	531578	144996395	1367627	171	45129											
SLC39A4	55630	broad.mit.edu	37	chr8	145640760	145640760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcactgcccggagcccccGcccccaccgcctcctccagc	5	3	8	25	3	0	0	0	0	0	0	2	1	2	1	9	1	4	1	9	1	0	0	rs141890870	byFrequency	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr8:145640760G>T	ENST00000276833.5	-	2	746	c.443C>A	c.(442-444)gCg>gAg	p.A148E	SLC39A4_ENST00000301305.3_Missense_Mutation_p.A173E	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	173						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	p.A173E(1)|p.A148E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CGGAGCCCCCGCCCCCACCGC	0.682													7	12					2.7689e-08	5.68628e-08	1	0	T	145640760	G	T	145640760	3	4	251	1	0	0	0	0	1	0	0	0	14708	1087	38	3	1465	3	SLC39A4	8	145640760	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	644365	145640760	723262	172	45130											
PSIP1	11168	broad.mit.edu	37	chr9	15469058	15469058	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatgcatctgttcacatccTtcatgacaaaacagtaattt	14	13	4	10	0	3	1	2	1	1	0	4	1	4	1	1	0	2	3	1	0	4	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:15469058T>C	ENST00000380733.4	-	13	1448		c.e13-2		PSIP1_ENST00000380738.4_Splice_Site			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTTCACATCCTTCATGACAAA	0.353													11	18					0	0	0	0	C	15469058	T	C	15469058	5	2	251	1	0	0	0	0	0	0	1	0	12742	1623	56	5	505	5	PSIP1	9	15469058	Splice_Site	SNP	T	TCGA-CV-6936-01A-11D-1912-08		15469058	125744373	173	45131											
DCAF12	25853	broad.mit.edu	37	chr9	34098412	34098412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctttaaggccttgtgagtGatgtgtgcatacacagggac	9	12	12	8	0	0	2	0	2	0	0	1	3	1	3	2	2	2	1	2	2	2	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:34098412G>C	ENST00000361264.4	-	5	1046	c.705C>G	c.(703-705)atC>atG	p.I235M		NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	235						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CCTTGTGAGTGATGTGTGCAT	0.483													7	108					0	0	0	0	C	34098412	G	C	34098412	3	2	251	1	0	0	0	0	1	0	0	0	4296	1280	45	2	676	2	DCAF12	9	34098412	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	18629354	34098412	107115019	174	45132											
SVEP1	79987	broad.mit.edu	37	chr9	113169482	113169482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacatatccggggtcacactCatagtacaacgtgctcaggt	11	9	9	12	2	3	0	3	0	0	0	4	0	4	0	1	3	3	2	1	3	4	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:113169482C>G	ENST00000401783.2	-	38	8734	c.8398G>C	c.(8398-8400)Gag>Cag	p.E2800Q	SVEP1_ENST00000374469.1_Missense_Mutation_p.E2777Q|SVEP1_ENST00000297826.5_Missense_Mutation_p.E726Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2800	Sushi 23.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGTCACACTCATAGTACAAC	0.483													76	52					0	0	0	0	G	113169482	C	G	113169482	3	3	251	1	0	0	0	0	1	0	0	0	15510	835	29	2	2361	2	SVEP1	9	113169482	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	79071070	113169482	28043949	175	45133											
LAMC3	10319	broad.mit.edu	37	chr9	133957539	133957539	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagccaggactctgctggctGatctggaaggtacgtgagtc	8	9	15	9	1	2	2	0	2	2	0	3	5	2	4	1	4	3	3	1	4	2	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:133957539G>C	ENST00000361069.4	+	24	4154	c.4021G>C	c.(4021-4023)Gat>Cat	p.D1341H	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1341	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCTGCTGGCTGATCTGGAAGG	0.617													13	5					0	0	0	0	C	133957539	G	C	133957539	3	2	251	1	0	0	0	0	1	0	0	0	8669	1290	45	2	4115	2	LAMC3	9	133957539	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	20788057	133957539	7255892	176	45134											
C9orf96	169436	broad.mit.edu	37	chr9	136253248	136253248	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatctcttctctgtacctCtgcctggtgatggagttcaa	7	14	9	11	0	4	2	1	1	3	1	6	3	4	3	2	2	2	2	2	2	2	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:136253248C>G	ENST00000371957.3	+	5	419	c.312C>G	c.(310-312)ctC>ctG	p.L104L	C9orf96_ENST00000371955.1_5'UTR|C9orf96_ENST00000426926.2_Silent_p.L104L	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	104	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTGTACCTCTGCCTGGTGA	0.572													12	55					0	0	0	0	G	136253248	C	G	136253248	2	3	251	1	0	0	0	0	0	0	0	1	2533	900	32	2		2	C9orf96	9	136253248	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	2295709	136253248	4960183	177	45135											
PHPT1	29085	broad.mit.edu	37	chr9	139744530	139744530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgactgtgagtgtctgggcGgcgggcgcatctcccaccag	5	7	16	13	4	2	1	0	1	2	0	3	2	2	1	2	3	0	1	2	3	0	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:139744530G>A	ENST00000545326.1	+	2	853	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000371661.1_Missense_Mutation_p.G76S|PHPT1_ENST00000247665.10_Missense_Mutation_p.G76S	NM_001135861.1	NP_001129333.1	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	76						cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GTGTCTGGGCGGCGGGCGCAT	0.647													47	20					0	0	0	0	A	139744530	G	A	139744530	3	1	251	1	0	0	0	0	1	0	0	0	11932	1116	39	1	232	1	PHPT1	9	139744530	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	3491282	139744530	1468901	178	45136											
C8G	733	broad.mit.edu	37	chr9	139840948	139840948	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgtgagcgactcggtcctGagtgggtttgagcagcgggt	5	10	17	9	3	0	3	0	3	0	0	2	4	1	3	2	3	3	2	2	3	0	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:139840948G>C	ENST00000224181.3	+	5	546	c.486G>C	c.(484-486)ctG>ctC	p.L162L	C8G_ENST00000465773.1_3'UTR	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	162					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		ACTCGGTCCTGAGTGGGTTTG	0.657													3	19					0	0	0	0	C	139840948	G	C	139840948	2	2	251	1	0	0	0	0	0	0	0	1	2441	1277	45	2		2	C8G	9	139840948	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	96418	139840948	1372483	179	45137											
RNF208	727800	broad.mit.edu	37	chr9	140115259	140115259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaggggctcgcctgccgCcgccgaagaagccgccgagg	6	3	15	17	6	0	1	0	0	0	1	2	3	1	1	7	3	2	1	7	3	2	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr9:140115259C>T	ENST00000392827.1	-	2	574	c.406G>A	c.(406-408)Gcg>Acg	p.A136T	RNF208_ENST00000391553.1_Missense_Mutation_p.A136T			Q9H0X6	RN208_HUMAN	ring finger protein 208	136							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCGCCTGCCGCCGCCGAAGAA	0.672													23	11					0	0	0	0	T	140115259	C	T	140115259	3	4	251	1	0	0	0	0	1	0	0	0	13560	739	26	4	383	4	RNF208	9	140115259	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	274311	140115259	1098172	180	45138											
LYZL1	84569	broad.mit.edu	37	chr10	29599073	29599073	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacctcacagatgcaattatCtgtgccaggaaaattgttaa	14	11	8	8	0	2	1	1	0	1	1	2	3	2	2	2	1	2	2	2	1	5	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:29599073C>T	ENST00000375500.3	+	4	528	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	111					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				ATGCAATTATCTGTGCCAGGA	0.433													12	30					0	0	0	0	T	29599073	C	T	29599073	2	4	251	1	0	0	0	0	0	0	0	1	9196	903	32	2		2	LYZL1	10	29599073	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08		29599073	105935674	181	45139											
ANK3	288	broad.mit.edu	37	chr10	62149197	62149197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agatacctttttcttccgatCccgggaccgtttgcggtgtt	5	15	10	11	4	1	1	0	0	1	1	3	3	3	2	4	2	2	2	4	2	1	6			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:62149197C>T	ENST00000280772.1	-	1	291	c.100G>A	c.(100-102)Gat>Aat	p.D34N	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	34					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTCCGATCCCGGGACCGT	0.408													15	60					0	0	0	0	T	62149197	C	T	62149197	3	4	251	1	0	0	0	0	1	0	0	0	622	855	30	2	13538	2	ANK3	10	62149197	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	32550124	62149197	73385550	182	45140											
ADAMTS14	140766	broad.mit.edu	37	chr10	72500862	72500862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagtgtgccaagcgcaactCctactatgtgcaccagaatg	11	8	10	12	1	0	1	0	0	0	1	1	1	1	1	3	0	5	3	3	0	5	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:72500862C>T	ENST00000373208.1	+	12	1877	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.S623F	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	623	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AAGCGCAACTCCTACTATGTG	0.617													13	33					0	0	0	0	T	72500862	C	T	72500862	3	4	251	1	0	0	0	0	1	0	0	0	259	855	30	2	1923	2	ADAMTS14	10	72500862	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	10351665	72500862	63033885	183	45141											
PLCE1	51196	broad.mit.edu	37	chr10	95892130	95892130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgcagtacatcaccggttCtctcctagaagcaaccacgt	11	9	7	14	3	2	1	1	0	1	1	5	1	3	1	3	1	3	4	3	1	4	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:95892130C>T	ENST00000260766.3	+	3	2040	c.1406C>T	c.(1405-1407)tCt>tTt	p.S469F	PLCE1_ENST00000371385.3_Missense_Mutation_p.S161F|PLCE1_ENST00000371375.1_Missense_Mutation_p.S161F|PLCE1_ENST00000371380.2_Missense_Mutation_p.S469F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	469			S -> T (in dbSNP:rs17508082).		activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCACCGGTTCTCTCCTAGAA	0.478													7	94					0	0	0	0	T	95892130	C	T	95892130	3	4	251	1	0	0	0	0	1	0	0	0	12106	913	32	2	1698	2	PLCE1	10	95892130	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	23391268	95892130	39642617	184	45142											
ENTPD7	57089	broad.mit.edu	37	chr10	101451214	101451214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggatactggatatgggagGagcctctctccaaattgctt	10	11	12	8	0	1	0	0	0	1	0	3	4	2	4	2	4	3	1	2	4	3	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:101451214G>A	ENST00000370489.4	+	8	960	c.782G>A	c.(781-783)gGa>gAa	p.G261E		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	261						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GATATGGGAGGAGCCTCTCTC	0.453													7	37					0	0	0	0	A	101451214	G	A	101451214	3	1	251	1	0	0	0	0	1	0	0	0	5182	1174	41	2	808	2	ENTPD7	10	101451214	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	5559084	101451214	34083533	185	45143											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118394400	118394400	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctaagaagcttcgagtattActcaagcagcgtcctcaacc	12	9	7	13	2	2	1	2	0	0	1	4	2	3	1	3	0	5	3	3	0	6	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr10:118394400A>T	ENST00000537242.1	+	0	892				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TTCGAGTATTACTCAAGCAGC	0.498													7	34					0	0	0	0	T	118394400	A	T	118394400	1	4	251	0	1	0	0	0	0	0	0	0	12223	391	14	5		5	PNLIPRP2	10	118394400	RNA	SNP	A	TCGA-CV-6936-01A-11D-1912-08	16943186	118394400	17140347	186	45144											
PHRF1	57661	broad.mit.edu	37	chr11	587346	587346	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccgctggctctttcaattCtgatgatgatgcagagagct	9	12	11	9	1	3	4	1	3	2	1	3	5	3	4	1	1	3	4	1	1	1	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:587346C>G	ENST00000264555.5	+	4	430	c.302C>G	c.(301-303)tCt>tGt	p.S101C	PHRF1_ENST00000413872.2_Missense_Mutation_p.S100C|PHRF1_ENST00000416188.2_Missense_Mutation_p.S101C|PHRF1_ENST00000533464.1_Missense_Mutation_p.S97C	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	101							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTTTCAATTCTGATGATGAT	0.562													17	31					0	0	0	0	G	587346	C	G	587346	3	3	251	1	0	0	0	0	1	0	0	0	11933	913	32	2	312	2	PHRF1	11	587346	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08		587346	134419170	187	45145											
NELL1	4745	broad.mit.edu	37	chr11	21592401	21592402	+	Frame_Shift_Ins	INS	-	-	A																															gaatgtgacaccagagtcacINSaagtcaatgtttagaccaaa																										TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:21592401_21592402insA	ENST00000298925.5	+	19	2309_2310	c.2156_2157insA	c.(2155-2157)aagfs	p.K719fs	NELL1_ENST00000325319.5_Frame_Shift_Ins_p.K634fs|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Frame_Shift_Ins_p.K691fs|NELL1_ENST00000532434.1_Frame_Shift_Ins_p.K644fs			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	691	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACCAGAGTCACAAGTCAATGTT	0.47													61	104	---	---	---	---					A	21592402	-	A	21592401	7	5	251	1	0	1	1	0	0	0	0	0	10403	478	17	0	2142	0	NELL1	11	21592401	Frame_Shift_Ins	INS	-	TCGA-CV-6936-01A-11D-1912-08	21005055	21592401	113414115	188	45146											
LRRC4C	57689	broad.mit.edu	37	chr11	40137497	40137497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accattgaaagccccaatttCaatggttctgatatggttcc	11	13	7	10	0	2	2	1	2	1	0	3	2	3	2	4	2	1	2	4	2	4	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:40137497C>T	ENST00000278198.2	-	2	2309	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	LRRC4C_ENST00000527150.1_Missense_Mutation_p.E116K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E116K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E116K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	116					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCCCCAATTTCAATGGTTCTG	0.428													11	58					0	0	0	0	T	40137497	C	T	40137497	3	4	251	1	0	0	0	0	1	0	0	0	9072	835	29	2	1580	2	LRRC4C	11	40137497	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	18545096	40137497	94869019	189	45147											
OR5AR1	219493	broad.mit.edu	37	chr11	56431302	56431302	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggaatattggtatgattatCctgattacaacagacactca	14	12	8	7	0	1	3	1	2	0	1	2	4	2	4	1	2	2	1	1	2	6	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:56431302C>G	ENST00000302969.2	+	1	165	c.141C>G	c.(139-141)atC>atG	p.I47M		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GTATGATTATCCTGATTACAA	0.473													10	183					0	0	0	0	G	56431302	C	G	56431302	3	3	251	1	0	0	0	0	1	0	0	0	11216	845	30	2	143	2	OR5AR1	11	56431302	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	16293805	56431302	78575214	190	45148											
MS4A6E	245802	broad.mit.edu	37	chr11	60107412	60107418	+	Frame_Shift_Del	DEL	GGAAACA	GGAAACA	-																															gctcactgctgtgctgcagtGgaaacagactgtctgacttc																										TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:60107412_60107418delGGAAACA	ENST00000300182.4	+	3	493_499	c.428_434delGGAAACA	c.(427-435)tgfs	p.WKQ143fs		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	143						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						GTGCTGCAGTGGAAACAGACTGTCTGA	0.478													22	99	---	---	---	---					-	60107418	GGAAACA	-	60107412	7	5	251	1	0	1	0	1	0	0	0	0	9935	1357	47	0	438	0	MS4A6E	11	60107412	Frame_Shift_Del	DEL	GGAAACA	TCGA-CV-6936-01A-11D-1912-08	3676110	60107412	74899104	191	45149											
NRXN2	9379	broad.mit.edu	37	chr11	64428240	64428240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctctctcacagacccGcccaagaaagccggtcccga	10	5	7	19	3	3	2	2	0	1	2	5	3	4	2	5	1	1	0	5	1	2	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:64428240G>A	ENST00000265459.6	-	10	2631	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000377551.1_Missense_Mutation_p.R724W|NRXN2_ENST00000377559.3_Missense_Mutation_p.R693W|NRXN2_ENST00000409571.1_Missense_Mutation_p.R717W	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	724	EGF-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCACAGACCCGCCCAAGAAAG	0.592													17	45					0	0	0	0	A	64428240	G	A	64428240	3	1	251	1	0	0	0	0	1	0	0	0	10737	1086	38	1	3293	1	NRXN2	11	64428240	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	4320828	64428240	70578276	192	45150											
RELT	84957	broad.mit.edu	37	chr11	73106303	73106303	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagccgtacaaagtggctGaagcccccagcagagaacaa	15	3	12	11	1	0	2	0	1	0	1	0	4	0	3	3	2	5	3	3	2	6	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:73106303G>A	ENST00000064780.2	+	10	1479	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L	RELT_ENST00000393580.2_Silent_p.L406L	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	406						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CAAAGTGGCTGAAGCCCCCAG	0.642													5	105					0	0	0	0	A	73106303	G	A	73106303	2	1	251	1	0	0	0	0	0	0	0	1	13303	1277	45	2		2	RELT	11	73106303	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	8678063	73106303	61900213	193	45151											
SLC36A4	120103	broad.mit.edu	37	chr11	92918982	92918982	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcctcattacatccatatcTttaaaaaagaaaaacaaagt	19	10	4	8	0	2	1	1	0	1	1	3	1	3	1	2	1	2	0	2	1	8	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:92918982T>A	ENST00000326402.4	-	2	186		c.e2-2		SLC36A4_ENST00000529184.1_Splice_Site	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4						L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CATCCATATCTTTAAAAAAGA	0.333													9	13					0	0	0	0	A	92918982	T	A	92918982	5	1	251	1	0	0	0	0	0	0	1	0	14684	1623	56	5	1500	5	SLC36A4	11	92918982	Splice_Site	SNP	T	TCGA-CV-6936-01A-11D-1912-08	19812679	92918982	42087534	194	45152											
IL10RA	3587	broad.mit.edu	37	chr11	117864051	117864051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatggcccccgcaaatGacacatatgaaagcatcttc	14	7	7	13	1	1	3	0	2	1	1	2	3	1	3	3	1	1	2	3	1	4	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr11:117864051G>T	ENST00000227752.3	+	4	583	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	IL10RA_ENST00000545409.1_Missense_Mutation_p.D6Y|IL10RA_ENST00000541785.1_Missense_Mutation_p.D135Y|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	155						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCCCGCAAATGACACATATGA	0.527													4	38					0.00024832	0.000485937	1	0	T	117864051	G	T	117864051	3	4	251	1	0	0	0	0	1	0	0	0	7673	1290	45	2	477	2	IL10RA	11	117864051	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	24945069	117864051	17142465	195	45153											
YARS2	51067	broad.mit.edu	37	chr12	32908286	32908286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctgcttctggtaccaggCcgagttgtccagcacagtga	7	10	13	11	1	1	1	0	1	1	0	2	2	2	1	3	2	4	5	3	2	1	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:32908286C>A	ENST00000324868.8	-	1	550	c.523G>T	c.(523-525)Gcc>Tcc	p.A175S		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	175					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TGGTACCAGGCCGAGTTGTCC	0.657											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	22					0.000566183	0.00110163	1	0	A	32908286	C	A	32908286	3	1	251	1	0	0	0	0	1	0	0	0	17564	739	26	4	930	4	YARS2	12	32908286	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08		32908286	100943609	196	45154											
DDN	23109	broad.mit.edu	37	chr12	49392252	49392252	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtcgacccggggggctccgtCgggccccaccagccttgcgc	3	5	15	18	5	0	0	0	0	0	0	3	1	1	0	6	4	2	1	6	4	0	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:49392252C>G	ENST00000421952.2	-	2	428	c.407G>C	c.(406-408)cGa>cCa	p.R136P	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	136						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GGGGCTCCGTCGGGCCCCACC	0.741													6	13					0	0	0	0	G	49392252	C	G	49392252	3	3	251	1	0	0	0	0	1	0	0	0	4365	884	31	3	1732	3	DDN	12	49392252	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	16483966	49392252	84459643	197	45155											
SLC4A8	9498	broad.mit.edu	37	chr12	51851325	51851325	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttgatggataaacatggTaagattattaggtgattttt	13	17	9	2	0	0	3	0	2	0	1	0	4	0	4	0	3	1	1	0	3	5	7			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:51851325T>C	ENST00000453097.2	+	6	980		c.e6+2		SLC4A8_ENST00000535225.2_Splice_Site|SLC4A8_ENST00000514353.3_Splice_Site|SLC4A8_ENST00000394856.1_Splice_Site|SLC4A8_ENST00000358657.3_Splice_Site	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8						bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATAAACATGGTAAGATTATTA	0.388													17	33					0	0	0	0	C	51851325	T	C	51851325	5	2	251	1	0	0	0	0	0	0	1	0	14747	1652	57	5	787	5	SLC4A8	12	51851325	Splice_Site	SNP	T	TCGA-CV-6936-01A-11D-1912-08	2459073	51851325	82000570	198	45156											
SCN8A	6334	broad.mit.edu	37	chr12	52201213	52201213	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcagagaatccaagtgttaGaggagaacaaaaattcagta	18	8	10	5	0	2	3	2	0	0	3	3	5	3	3	1	1	1	2	1	1	7	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:52201213G>C	ENST00000354534.5	+	27	6121	c.5943G>C	c.(5941-5943)taG>taC	p.*1981Y	SCN8A_ENST00000545061.1_Nonstop_Mutation_p.*1940Y	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	0					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCAAGTGTTAGAGGAGAACAA	0.393													2	4					0	0	0	0	C	52201213	G	C	52201213	4	2	251	1	0	0	0	0	0	0	0	0	14011	937	33	2	6045	2	SCN8A	12	52201213	Nonstop_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	349888	52201213	81650682	199	45157											
GLI1	2735	broad.mit.edu	37	chr12	57863427	57863427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggctggaccagctacatCaactccggccaatagggacc	11	6	10	14	1	2	0	2	0	0	0	3	2	3	2	4	4	3	2	4	4	4	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:57863427C>G	ENST00000228682.2	+	11	1613	c.1522C>G	c.(1522-1524)Caa>Gaa	p.Q508E	GLI1_ENST00000543426.1_Missense_Mutation_p.Q380E|GLI1_ENST00000546141.1_Missense_Mutation_p.Q467E	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	508					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCAGCTACATCAACTCCGGCC	0.607													10	60					0	0	0	0	G	57863427	C	G	57863427	3	3	251	1	0	0	0	0	1	0	0	0	6488	827	29	2	1560	2	GLI1	12	57863427	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	5662214	57863427	75988468	200	45158											
SYT1	6857	broad.mit.edu	37	chr12	79689943	79689943	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgtttctgctacctgataAgaagaagaaatttgagacaa	16	11	9	5	0	1	5	0	2	1	4	1	6	1	5	1	0	2	2	1	0	6	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:79689943A>T	ENST00000261205.4	+	7	1226	c.569A>T	c.(568-570)aAg>aTg	p.K190M	SYT1_ENST00000393240.3_Missense_Mutation_p.K190M|SYT1_ENST00000552744.1_Missense_Mutation_p.K190M|SYT1_ENST00000457153.2_Missense_Mutation_p.K187M	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	190	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CTACCTGATAAGAAGAAGAAA	0.418													20	42					0	0	0	0	T	79689943	A	T	79689943	3	4	251	1	0	0	0	0	1	0	0	0	15556	72	3	5	583	5	SYT1	12	79689943	Missense_Mutation	SNP	A	TCGA-CV-6936-01A-11D-1912-08	21826516	79689943	54161952	201	45159											
PAWR	5074	broad.mit.edu	37	chr12	79988212	79988212	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtctttctcttactactTcctggtagatacaattaaaa	11	17	4	9	0	2	1	0	0	2	1	4	1	3	1	1	1	3	1	1	1	7	8			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:79988212T>A	ENST00000328827.4	-	6	1205	c.831_splice	c.e6-1	p.E278_splice		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	278					actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TCTTACTACTTCCTGGTAGAT	0.294													8	16					0	0	0	0	A	79988212	T	A	79988212	5	1	251	1	0	0	0	0	0	0	1	0	11548	1797	62	5	197	5	PAWR	12	79988212	Splice_Site	SNP	T	TCGA-CV-6936-01A-11D-1912-08	298269	79988212	53863683	202	45160											
ACSS3	79611	broad.mit.edu	37	chr12	81503457	81503457	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacaaacactaaagcaaccTttacctataaagaagttctg	17	11	4	9	0	1	1	0	0	1	1	1	1	1	1	2	0	5	2	2	0	10	7			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:81503457T>A	ENST00000548058.1	+	2	1340	c.430T>A	c.(430-432)Ttt>Att	p.F144I	ACSS3_ENST00000261206.3_Missense_Mutation_p.F143I|RP11-543H12.1_ENST00000547123.1_RNA			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	144						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TAAAGCAACCTTTACCTATAA	0.299													7	25					0	0	0	0	A	81503457	T	A	81503457	3	1	251	1	0	0	0	0	1	0	0	0	190	1609	56	5	436	5	ACSS3	12	81503457	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	1515245	81503457	52348438	203	45161											
EEA1	8411	broad.mit.edu	37	chr12	93213152	93213152	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtctctccttcaccagcctGaatttttgcataaagatctt	10	15	5	11	0	3	2	1	1	2	1	5	2	4	2	3	0	2	1	3	0	3	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:93213152G>C	ENST00000322349.8	-	14	1924	c.1660C>G	c.(1660-1662)Cag>Gag	p.Q554E		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	554	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCACCAGCCTGAATTTTTGCA	0.313													6	30					0	0	0	0	C	93213152	G	C	93213152	3	2	251	1	0	0	0	0	1	0	0	0	4957	1299	45	2	2639	2	EEA1	12	93213152	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	11709695	93213152	40638743	204	45162											
ANO4	121601	broad.mit.edu	37	chr12	101510564	101510564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagttctcggggactcctcTtaagtactgcaggtgagtgt	7	13	13	8	1	2	2	0	2	2	0	4	3	3	3	1	3	2	3	1	3	2	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:101510564T>C	ENST00000392979.3	+	24	2814	c.2453T>C	c.(2452-2454)cTt>cCt	p.L818P	ANO4_ENST00000392977.3_Missense_Mutation_p.L853P|ANO4_ENST00000550015.1_Missense_Mutation_p.L373P|ANO4_ENST00000299222.9_Missense_Mutation_p.L373P	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	853						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGGACTCCTCTTAAGTACTGC	0.542										HNSCC(74;0.22)			4	81					0	0	0	0	C	101510564	T	C	101510564	3	2	251	1	0	0	0	0	1	0	0	0	698	1609	56	5	2543	5	ANO4	12	101510564	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	8297412	101510564	32341331	205	45163											
UTP20	27340	broad.mit.edu	37	chr12	101779782	101779782	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattgctgccaagaaaaaaAtgaagaaacacaaaaataaa	25	6	5	5	0	0	3	0	1	0	2	0	3	0	3	1	0	3	1	1	0	11	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:101779782A>G	ENST00000261637.4	+	62	8413	c.8239A>G	c.(8239-8241)Atg>Gtg	p.M2747V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2747	Nuclear localization signal.|Nucleolar localization signal.				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAGAAAAAAATGAAGAAACA	0.308													23	51					0	0	0	0	G	101779782	A	G	101779782	3	3	251	1	0	0	0	0	1	0	0	0	17195	101	4	5	8485	5	UTP20	12	101779782	Missense_Mutation	SNP	A	TCGA-CV-6936-01A-11D-1912-08	269218	101779782	32072113	206	45164											
MYBPC1	4604	broad.mit.edu	37	chr12	102036248	102036248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggacgtatgggagttgctGaagaacgcgaaacccagtga	12	7	15	7	3	0	3	0	2	0	1	0	6	0	5	1	2	3	3	1	2	4	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:102036248G>A	ENST00000549145.1	+	10	781	c.681G>A	c.(679-681)ctG>ctA	p.L227L	MYBPC1_ENST00000553190.1_Silent_p.L214L|MYBPC1_ENST00000452455.2_Silent_p.L214L|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Silent_p.L202L|MYBPC1_ENST00000550270.1_Silent_p.L214L|MYBPC1_ENST00000551300.1_Silent_p.L115L|MYBPC1_ENST00000360610.2_Silent_p.L214L|MYBPC1_ENST00000361466.2_Silent_p.L239L|MYBPC1_ENST00000536007.1_Silent_p.L195L|MYBPC1_ENST00000441232.1_Silent_p.L214L|MYBPC1_ENST00000545503.2_Silent_p.L214L|MYBPC1_ENST00000547405.1_Silent_p.L188L|MYBPC1_ENST00000392934.3_Silent_p.L201L|MYBPC1_ENST00000547509.1_Silent_p.L200L|MYBPC1_ENST00000361685.2_Silent_p.L239L			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	214					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						GGGAGTTGCTGAAGAACGCGA	0.562													15	43					0	0	0	0	A	102036248	G	A	102036248	2	1	251	1	0	0	0	0	0	0	0	1	10081	1277	45	2		2	MYBPC1	12	102036248	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	256466	102036248	31815647	207	45165											
ATP2A2	488	broad.mit.edu	37	chr12	110764234	110764234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcacactgatcccgtccCtgacccacgagctgtcaacc	10	6	7	18	2	1	2	1	2	0	0	3	3	3	2	4	0	3	2	4	0	2	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:110764234C>T	ENST00000395494.2	+	6	1066	c.503C>T	c.(502-504)cCt>cTt	p.P168L	ATP2A2_ENST00000539276.2_Missense_Mutation_p.P195L|ATP2A2_ENST00000308664.6_Missense_Mutation_p.P195L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	195					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GATCCCGTCCCTGACCCACGA	0.423													4	25					0	0	0	0	T	110764234	C	T	110764234	3	4	251	1	0	0	0	0	1	0	0	0	1141	681	24	4	610	4	ATP2A2	12	110764234	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	8727986	110764234	23087661	208	45166											
SBNO1	55206	broad.mit.edu	37	chr12	123780467	123780467	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgttcttcatgcgttgctCaagttggtgatgctctgagg	5	16	12	8	1	5	2	2	2	3	0	5	2	5	2	0	2	3	5	0	2	1	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:123780467C>G	ENST00000420886.2	-	31	4169	c.4170G>C	c.(4168-4170)ttG>ttC	p.L1390F	SBNO1_ENST00000602750.1_Missense_Mutation_p.L1389F|SBNO1_ENST00000267176.4_Missense_Mutation_p.L1389F|SBNO1_ENST00000602398.1_Missense_Mutation_p.L1390F	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1390							ATP binding|DNA binding|hydrolase activity	p.L1389F(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATGCGTTGCTCAAGTTGGTGA	0.428													8	257					0	0	0	0	G	123780467	C	G	123780467	3	3	251	1	0	0	0	0	1	0	0	0	13948	825	29	2	15	2	SBNO1	12	123780467	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	13016233	123780467	10071428	209	45167											
FAM101A	144347	broad.mit.edu	37	chr12	124719586	124719594	+	RNA	DEL	CACCACCAT	CACCACCAT	-																															accatcaccatcaccatcacCaccaccatcatcaccatcac																								rs141799019	by1000genomes	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr12:124719586_124719594delCACCACCAT	ENST00000540762.1	+	0	444																											tcaccatcaccaccaccatcatcaccatc	0.498													2	4	---	---	---	---					-	124719594	CACCACCAT	-	124719586	6	5	251	0	1	1	0	1	0	0	0	0	5421	609	21	0		0	FAM101A	12	124719586	RNA	DEL	CACCACCAT	TCGA-CV-6936-01A-11D-1912-08	939119	124719586	9132309	210	45168											
GJB2	2706	broad.mit.edu	37	chr13	20763385	20763385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgatgtccttaaattcactCtttatctcccccttgatgaa	9	16	4	12	1	3	2	1	2	2	0	6	3	4	2	3	0	0	0	3	0	4	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:20763385C>T	ENST00000382844.1	-	1	534	c.336G>A	c.(334-336)aaG>aaA	p.K112K	GJB2_ENST00000382848.4_Silent_p.K112K			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	112				K -> N (in Ref. 4; AAY25170).	cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TAAATTCACTCTTTATCTCCC	0.532									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	57					0	0	0	0	T	20763385	C	T	20763385	2	4	251	1	0	0	0	0	0	0	0	1	6459	912	32	2		2	GJB2	13	20763385	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08		20763385	94406493	211	45169											
FRY	10129	broad.mit.edu	37	chr13	32869543	32869543	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atccgcagggcccagagttaCcgagtcctcactacttttct	8	11	8	14	2	2	1	1	0	1	1	4	2	4	1	4	1	2	2	4	1	2	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:32869543C>A	ENST00000380250.3	+	61	9484	c.8988C>A	c.(8986-8988)taC>taA	p.Y2996*	FRY_ENST00000542859.1_Nonsense_Mutation_p.Y366*|FRY_ENST00000380217.1_Nonsense_Mutation_p.Y178*	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2996					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCCAGAGTTACCGAGTCCTCA	0.567													20	46					1.2644e-06	2.51772e-06	1	0	A	32869543	C	A	32869543	4	1	251	1	0	0	0	0	0	1	0	0	6111	518	18	4	9230	4	FRY	13	32869543	Nonsense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	12106158	32869543	82300335	212	45170											
BRCA2	675	broad.mit.edu	37	chr13	32950881	32950881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctttgcaagatggtgcaGagctttatgaagcagtgaag	11	11	14	5	0	0	4	0	2	0	2	0	4	0	4	0	1	5	5	0	1	4	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:32950881G>A	ENST00000544455.1	+	21	8934	c.8707G>A	c.(8707-8709)Gag>Aag	p.E2903K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E2903K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2903					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGATGGTGCAGAGCTTTATGA	0.388			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			5	26					0	0	0	0	A	32950881	G	A	32950881	3	1	251	1	0	0	0	0	1	0	0	0	1507	943	33	2	8785	2	BRCA2	13	32950881	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	81338	32950881	82218997	213	45171											
DIAPH3	81624	broad.mit.edu	37	chr13	60544172	60544172	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatccagaaacagttttcAgtcatttcatgaggtctgat	11	16	7	7	0	4	3	3	2	1	1	5	3	5	3	1	1	1	1	1	1	2	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:60544172A>T	ENST00000400324.4	-	17	2200	c.1980T>A	c.(1978-1980)acT>acA	p.T660T	DIAPH3_ENST00000377908.2_Silent_p.T649T|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Silent_p.T660T|DIAPH3_ENST00000400330.1_Silent_p.T660T|DIAPH3_ENST00000400319.1_Silent_p.T590T|DIAPH3_ENST00000400320.1_Silent_p.T614T	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	660	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AACAGTTTTCAGTCATTTCAT	0.353													7	7					0	0	0	0	T	60544172	A	T	60544172	2	4	251	1	0	0	0	0	0	0	0	1	4557	175	7	5		5	DIAPH3	13	60544172	Silent	SNP	A	TCGA-CV-6936-01A-11D-1912-08	27593291	60544172	54625706	214	45172											
TDRD3	81550	broad.mit.edu	37	chr13	61068665	61068665	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttttacagaaagaaaagTcaaccaaatcagagggaaaa	22	6	8	5	0	2	3	2	0	0	3	2	4	2	4	1	1	2	1	1	1	9	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:61068665T>G	ENST00000196169.3	+	8	1323	c.535T>G	c.(535-537)Tca>Gca	p.S179A	TDRD3_ENST00000377881.2_Missense_Mutation_p.S179A|TDRD3_ENST00000377894.2_Missense_Mutation_p.S179A|TDRD3_ENST00000535286.1_Missense_Mutation_p.S272A	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	179					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GAAAGAAAAGTCAACCAAATC	0.363													6	36					0	0	0	0	G	61068665	T	G	61068665	3	3	251	1	0	0	0	0	1	0	0	0	15826	1667	58	5	844	5	TDRD3	13	61068665	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	524493	61068665	54101213	215	45173											
DACH1	1602	broad.mit.edu	37	chr13	72063278	72063278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgtagaaagcggggtctCatctgcatgtgattgaaaca	11	11	13	6	1	2	3	1	2	2	1	3	3	2	3	0	3	3	2	0	3	3	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:72063278C>T	ENST00000305425.4	-	7	2001	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	DACH1_ENST00000354591.4_Missense_Mutation_p.E325K|DACH1_ENST00000313174.7_Missense_Mutation_p.E379K|DACH1_ENST00000359684.2_Missense_Mutation_p.E579K	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	577					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGCGGGGTCTCATCTGCATGT	0.428													26	109					0	0	0	0	T	72063278	C	T	72063278	3	4	251	1	0	0	0	0	1	0	0	0	4253	835	29	2	567	2	DACH1	13	72063278	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	10994613	72063278	43106600	216	45174											
TBC1D4	9882	broad.mit.edu	37	chr13	75873593	75873593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagccacaaagctgatcCcctgacagtatcccacttct	10	9	5	17	0	1	2	0	2	1	0	4	2	4	2	5	0	2	2	5	0	2	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:75873593C>A	ENST00000377636.3	-	17	3375	c.3029G>T	c.(3028-3030)gGg>gTg	p.G1010V	TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G1002V|TBC1D4_ENST00000425511.1_Missense_Mutation_p.G174V|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G947V	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1010	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AAAGCTGATCCCCTGACAGTA	0.493													19	30					5.35356e-11	1.07863e-10	1	0	A	75873593	C	A	75873593	3	1	251	1	0	0	0	0	1	0	0	0	15716	623	22	4	887	4	TBC1D4	13	75873593	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	3810315	75873593	39296285	217	45175											
NALCN	259232	broad.mit.edu	37	chr13	101890129	101890129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtacgtgaattgtgaatGataaagatctgggtatacat	16	12	10	3	1	1	4	0	3	1	1	1	4	1	4	0	1	2	2	0	1	8	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:101890129G>A	ENST00000251127.6	-	12	1492	c.1411C>T	c.(1411-1413)Cat>Tat	p.H471Y	NALCN_ENST00000376196.3_Missense_Mutation_p.H471Y|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	471						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATTGTGAATGATAAAGATCT	0.308													39	130					0	0	0	0	A	101890129	G	A	101890129	3	1	251	1	0	0	0	0	1	0	0	0	10218	1290	45	2	3937	2	NALCN	13	101890129	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	26016536	101890129	13279749	218	45176											
TUBGCP3	10426	broad.mit.edu	37	chr13	113223541	113223541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagttgctgccaatcacccGcacagcatactggaactgct	11	8	9	13	1	1	0	1	0	0	0	1	2	1	1	2	1	6	5	2	1	4	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr13:113223541G>A	ENST00000261965.3	-	2	295	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.R37W	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	37					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CCAATCACCCGCACAGCATAC	0.433													15	42					0	0	0	0	A	113223541	G	A	113223541	3	1	251	1	0	0	0	0	1	0	0	0	16863	1086	38	1	2698	1	TUBGCP3	13	113223541	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	11333412	113223541	1946337	219	45177											
OR4Q3	441669	broad.mit.edu	37	chr14	20216405	20216405	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtggataagatattctcCttgttttacacagtgattac	10	17	7	7	0	2	2	0	1	2	1	3	3	2	3	1	1	2	1	1	1	4	7			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:20216405C>A	ENST00000331723.1	+	1	819	c.819C>A	c.(817-819)tcC>tcA	p.S273S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATATTCTCCTTGTTTTACA	0.433													20	157					7.41877e-09	1.48594e-08	1	0	A	20216405	C	A	20216405	2	1	251	1	0	0	0	0	0	0	0	1	11152	668	24	4		4	OR4Q3	14	20216405	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08		20216405	87133135	220	45178											
ACIN1	22985	broad.mit.edu	37	chr14	23528491	23528491	+	Frame_Shift_Del	DEL	C	C	-																															ccgatctcggtcccccctgtCccgctccctttctctctctc																										TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:23528491delC	ENST00000262710.1	-	19	4219	c.3892delG	c.(3892-3894)acfs	p.D1298fs	ACIN1_ENST00000457657.1_Frame_Shift_Del_p.D1258fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.D540fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.D540fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.D571fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.D1240fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.D1285fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.D539fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1298	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCCCccctgtcccgctccctt	0.637											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	32	---	---	---	---					-	23528491	C	-	23528491	7	5	251	1	0	1	0	1	0	0	0	0	142	855	30	0	137	0	ACIN1	14	23528491	Frame_Shift_Del	DEL	C	TCGA-CV-6936-01A-11D-1912-08	3312086	23528491	83821049	221	45179											
MYH7	4625	broad.mit.edu	37	chr14	23884302	23884302	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccagctcattctccagctCccgcacccgcgcttccagct	5	9	6	21	3	2	0	1	0	1	0	6	0	5	0	5	0	3	5	5	0	0	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:23884302C>G	ENST00000355349.3	-	37	5623	c.5461G>C	c.(5461-5463)Gag>Cag	p.E1821Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1821					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		TTCTCCAGCTCCCGCACCCGC	0.627													16	109					0	0	0	0	G	23884302	C	G	23884302	3	3	251	1	0	0	0	0	1	0	0	0	10109	864	30	2	362	2	MYH7	14	23884302	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	355811	23884302	83465238	222	45180											
KIAA0391	9692	broad.mit.edu	37	chr14	35593231	35593231	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctccttcatcaagatgtAaacacagcttggaatttata	13	13	6	9	0	3	1	2	0	1	1	4	2	3	2	1	1	2	3	1	1	6	6			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:35593231A>C	ENST00000557565.1	+	2	1161	c.780A>C	c.(778-780)gtA>gtC	p.V260V	KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Silent_p.V165V|KIAA0391_ENST00000603544.1_Silent_p.V260V|KIAA0391_ENST00000534898.4_Silent_p.V260V|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000321130.10_Silent_p.V260V|KIAA0391_ENST00000250377.7_Silent_p.V165V			O15091	MRRP3_HUMAN	KIAA0391	260					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		ATCAAGATGTAAACACAGCTT	0.343													9	20					0	0	0	0	C	35593231	A	C	35593231	2	2	251	1	0	0	0	0	0	0	0	1	8223	349	13	5		5	KIAA0391	14	35593231	Silent	SNP	A	TCGA-CV-6936-01A-11D-1912-08	11708929	35593231	71756309	223	45181											
MDGA2	161357	broad.mit.edu	37	chr14	47504427	47504427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtttaggtttgccagttaCttgacattgcagttctattg	7	18	10	6	0	1	1	0	1	1	0	1	1	1	1	1	2	3	5	1	2	3	9			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:47504427C>G	ENST00000426342.1	-	8	1458	c.712G>C	c.(712-714)Gta>Cta	p.V238L	MDGA2_ENST00000399232.2_Missense_Mutation_p.V536L|MDGA2_ENST00000439988.2_Missense_Mutation_p.V467L|MDGA2_ENST00000357362.3_Missense_Mutation_p.V238L	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	467					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTGCCAGTTACTTGACATTGC	0.413													32	75					0	0	0	0	G	47504427	C	G	47504427	3	3	251	1	0	0	0	0	1	0	0	0	9476	565	20	4	1511	4	MDGA2	14	47504427	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	11911196	47504427	59845113	224	45182											
KCNH5	27133	broad.mit.edu	37	chr14	63175134	63175134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctgccggaggcgctcctCctcctctttcttcacatcac	4	13	6	18	2	5	0	2	0	3	0	8	1	8	1	4	2	1	1	4	2	0	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:63175134C>T	ENST00000322893.7	-	11	2327	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	687					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGCGCTCCTCCTCCTCTTTC	0.493													16	68					0	0	0	0	T	63175134	C	T	63175134	3	4	251	1	0	0	0	0	1	0	0	0	8088	864	30	2	911	2	KCNH5	14	63175134	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	15670707	63175134	44174406	225	45183											
EXD2	55218	broad.mit.edu	37	chr14	69701456	69701456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcccagatttcagtggctCtctttcttcatcttcttgga	6	17	7	11	0	6	1	2	0	4	1	7	2	6	2	1	2	1	1	1	2	0	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:69701456C>T	ENST00000409014.1	+	7	1039	c.382C>T	c.(382-384)Ctc>Ttc	p.L128F	EXD2_ENST00000312994.5_Missense_Mutation_p.L253F|EXD2_ENST00000449989.1_Missense_Mutation_p.L128F|EXD2_ENST00000492815.1_Intron|EXD2_ENST00000409949.1_Missense_Mutation_p.L128F|EXD2_ENST00000409675.1_Missense_Mutation_p.L128F|EXD2_ENST00000409242.1_Missense_Mutation_p.L128F|EXD2_ENST00000409018.3_Missense_Mutation_p.L253F	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	128					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TTCAGTGGCTCTCTTTCTTCA	0.433													9	26					0	0	0	0	T	69701456	C	T	69701456	3	4	251	1	0	0	0	0	1	0	0	0	5335	913	32	2	392	2	EXD2	14	69701456	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	6526322	69701456	37648084	226	45184											
SEL1L	6400	broad.mit.edu	37	chr14	81972553	81972553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaagggaagtggcagggctCcccatgtgctgtgccttcaa	10	8	13	10	0	1	0	1	0	0	0	2	1	2	1	3	3	2	3	3	3	4	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:81972553C>T	ENST00000336735.4	-	4	489	c.373G>A	c.(373-375)Gag>Aag	p.E125K	SEL1L_ENST00000555824.1_Missense_Mutation_p.E125K	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	125	Fibronectin type-II.|Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGGCAGGGCTCCCCATGTGCT	0.438													12	39					0	0	0	0	T	81972553	C	T	81972553	3	4	251	1	0	0	0	0	1	0	0	0	14097	864	30	2	2083	2	SEL1L	14	81972553	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	12271097	81972553	25376987	227	45185											
SLC24A4	123041	broad.mit.edu	37	chr14	92959967	92959967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccgatgtgccgggaagacGattagcgctgagtcgcggcc	7	7	16	11	6	0	2	0	1	0	1	1	5	0	3	3	2	3	1	3	2	2	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:92959967G>A	ENST00000532405.1	+	17	2090	c.1864G>A	c.(1864-1866)Gat>Aat	p.D622N	SLC24A4_ENST00000298877.1_Missense_Mutation_p.D605N|SLC24A4_ENST00000351924.5_Missense_Mutation_p.D586N|SLC24A4_ENST00000393265.2_Missense_Mutation_p.D558N|SLC24A4_ENST00000531433.1_Missense_Mutation_p.D603N			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	622						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.D605H(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCGGGAAGACGATTAGCGCTG	0.547													4	20					0	0	0	0	A	92959967	G	A	92959967	3	1	251	1	0	0	0	0	1	0	0	0	14556	1058	37	1	1879	1	SLC24A4	14	92959967	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	10987414	92959967	14389573	228	45186											
FAM181A	90050	broad.mit.edu	37	chr14	94395169	94395169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttggagcccctgggacctGagactaccctggtgtccatg	6	9	13	13	0	0	1	0	1	0	1	1	4	1	3	5	3	2	1	5	3	1	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:94395169G>A	ENST00000267594.5	+	3	1031	c.724G>A	c.(724-726)Gag>Aag	p.E242K	FAM181A_ENST00000557000.2_Missense_Mutation_p.E180K|FAM181A_ENST00000557719.1_Missense_Mutation_p.E180K|FAM181A_ENST00000556222.1_Missense_Mutation_p.E180K	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	242										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CCTGGGACCTGAGACTACCCT	0.622													4	33					0	0	0	0	A	94395169	G	A	94395169	3	1	251	1	0	0	0	0	1	0	0	0	5550	1291	45	2	730	2	FAM181A	14	94395169	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1435202	94395169	12954371	229	45187											
DDX24	57062	broad.mit.edu	37	chr14	94521392	94521392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggaacagtgggatatcctCatctttcttgagcgttttgt	7	15	12	7	1	3	1	1	1	2	0	4	3	4	3	1	3	2	1	1	3	2	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:94521392C>T	ENST00000330836.5	-	7	2259	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K	DDX24_ENST00000555054.1_Missense_Mutation_p.E667K|DDX24_ENST00000544005.1_Missense_Mutation_p.E460K	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	710	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGGATATCCTCATCTTTCTTG	0.463													32	149					0	0	0	0	T	94521392	C	T	94521392	3	4	251	1	0	0	0	0	1	0	0	0	4383	835	29	2	463	2	DDX24	14	94521392	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	126223	94521392	12828148	230	45188											
IFI27L1	122509	broad.mit.edu	37	chr14	94567115	94567115	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtagcagctgtggtcggagGaggtgagtctctatgggaag	8	10	18	5	1	1	1	0	1	1	0	3	4	1	4	0	5	2	3	0	5	3	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:94567115G>C	ENST00000556381.1	+	4	391	c.56G>C	c.(55-57)gGa>gCa	p.G19A	IFI27L1_ENST00000557066.1_Missense_Mutation_p.G20A|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.G20A|IFI27L1_ENST00000555523.1_Missense_Mutation_p.G20A|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000553664.1_Missense_Mutation_p.R42S|IFI27L1_ENST00000557218.1_Missense_Mutation_p.G20A|IFI27L1_ENST00000393115.3_Missense_Mutation_p.G20A			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	20						integral to membrane				lung(2)	2						GTGGTCGGAGGAGGTGAGTCT	0.542													14	62					0	0	0	0	C	94567115	G	C	94567115	3	2	251	1	0	0	0	0	1	0	0	0	7566	1174	41	2	65	2	IFI27L1	14	94567115	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	45723	94567115	12782425	231	45189											
ATG2B	55102	broad.mit.edu	37	chr14	96757161	96757161	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaactcacctaattgtacTagtgaatgcataggtccaac	15	10	7	9	0	1	1	1	1	0	0	2	2	2	1	2	1	4	2	2	1	8	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:96757161T>C	ENST00000359933.4	-	39	6584	c.5691A>G	c.(5689-5691)ctA>ctG	p.L1897L	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1897								p.L1897L(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTAATTGTACTAGTGAATGCA	0.348													26	66					0	0	0	0	C	96757161	T	C	96757161	2	2	251	1	0	0	0	0	0	0	0	1	1098	1509	53	5		5	ATG2B	14	96757161	Silent	SNP	T	TCGA-CV-6936-01A-11D-1912-08	2190046	96757161	10592379	232	45190											
AKT1	207	broad.mit.edu	37	chr14	105246455	105246455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagttgttgaggggagcctCacgttggtccacatcctgcg	7	10	14	10	2	1	1	1	1	0	0	3	3	3	2	3	3	2	3	3	3	1	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr14:105246455C>T	ENST00000554581.1	-	2	1625	c.145G>A	c.(145-147)Gag>Aag	p.E49K	AKT1_ENST00000554848.1_Missense_Mutation_p.E49K|AKT1_ENST00000407796.2_Missense_Mutation_p.E49K|AKT1_ENST00000402615.2_Missense_Mutation_p.E49K|AKT1_ENST00000349310.3_Missense_Mutation_p.E49K|AKT1_ENST00000555528.1_Missense_Mutation_p.E49K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	49	PH.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E49K(1)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	AGGGGAGCCTCACGTTGGTCC	0.587		1	Mis		"breast, colorectal, ovarian, NSCLC"								11	13					0	0	0	0	T	105246455	C	T	105246455	3	4	251	1	0	0	0	0	1	0	0	0	478	835	29	2	1345	2	AKT1	14	105246455	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	8489294	105246455	2103085	233	45191											
ATP10A	57194	broad.mit.edu	37	chr15	25963462	25963462	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactctggtggctgccgatgCtgccgcgctgggacaccgag	5	7	15	14	4	1	0	0	0	1	0	1	3	1	1	3	3	3	3	3	3	0	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	1d01e739-6907-47d2-8b4b-d8babe8066ca	g.chr15:25963462C>A	ENST00000356865.6	-	8	1559	c.1448G>T	c.(1447-1449)aGc>aTc	p.S483I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	483					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTGCCGATGCTGCCGCGCTG	0.711													11	8					6.40141e-05	0.000128621	1	0	A	25963462	C	A	25963462	3	1	251	1	0	0	0	0	1	0	0	0	1120	797	28	4	3107	4	ATP10A	15	25963462	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08		25963462	76567930	234	45192											
MYO5A	4644	broad.mit.edu	37	chr15	52656782	52656782	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcttccttgaggtcaTcatatctttcttccaggcga	7	16	6	12	1	6	1	3	1	3	0	9	2	8	1	2	2	0	0	2	2	1	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr15:52656782T>A	ENST00000399231.3	-	24	3521	c.3278A>T	c.(3277-3279)gAt>gTt	p.D1093V	MYO5A_ENST00000399233.2_Missense_Mutation_p.D1093V|MYO5A_ENST00000356338.6_Missense_Mutation_p.D1093V|MYO5A_ENST00000358212.6_Missense_Mutation_p.D1093V|MYO5A_ENST00000553916.1_Missense_Mutation_p.D1093V	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1093					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTTGAGGTCATCATATCTTTC	0.338													25	54					0	0	0	0	A	52656782	T	A	52656782	3	1	251	1	0	0	0	0	1	0	0	0	10148	1435	50	5	2361	5	MYO5A	15	52656782	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	26693320	52656782	49874610	235	45193											
TLN2	83660	broad.mit.edu	37	chr15	63128147	63128147	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcggccaatgcctccgttCagggacacgccagcgaggag	9	4	15	13	4	1	0	1	0	0	0	2	3	2	2	4	4	2	1	4	4	1	1	rs140723056	by1000genomes	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr15:63128147C>G	ENST00000561311.1	+	56	7479	c.7249C>G	c.(7249-7251)Cag>Gag	p.Q2417E	TLN2_ENST00000306829.6_Missense_Mutation_p.Q2417E|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2417	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGCCTCCGTTCAGGGACACGC	0.647													5	37					0	0	0	0	G	63128147	C	G	63128147	3	3	251	1	0	0	0	0	1	0	0	0	16042	827	29	2	7463	2	TLN2	15	63128147	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	10471365	63128147	39403245	236	45194											
CALML4	91860	broad.mit.edu	37	chr15	68489825	68489825	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcgtgagttttgaccgcAggtcggacgccatgacgtaa	9	9	13	10	5	0	3	0	3	0	0	2	5	0	4	2	2	0	3	2	2	1	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr15:68489825A>T	ENST00000448060.2	-	3	416	c.305T>A	c.(304-306)cTg>cAg	p.L102Q	CALML4_ENST00000467889.1_Missense_Mutation_p.L149Q|RP11-315D16.2_ENST00000562767.1_Silent_p.P75P|CALML4_ENST00000540479.1_Missense_Mutation_p.L73Q|CALML4_ENST00000395465.3_Intron	NM_001031733.2	NP_001026903.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	149	EF-hand 2.						calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TTTTGACCGCAGGTCGGACGC	0.498													21	71					0	0	0	0	T	68489825	A	T	68489825	3	4	251	1	0	0	0	0	1	0	0	0	2613	188	7	5	152	5	CALML4	15	68489825	Missense_Mutation	SNP	A	TCGA-CV-6936-01A-11D-1912-08	5361678	68489825	34041567	237	45195											
ERCC4	2072	broad.mit.edu	37	chr16	14020442	14020442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggtgtatagagcccacaGaataatcgagtcttgtcaag	12	11	10	8	1	2	2	1	0	1	2	3	3	2	2	1	1	1	1	1	1	5	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:14020442G>A	ENST00000311895.7	+	3	422	c.413G>A	c.(412-414)aGa>aAa	p.R138K	ERCC4_ENST00000575156.1_Missense_Mutation_p.R138K	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	138					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGAGCCCACAGAATAATCGAG	0.388			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	98					0	0	0	0	A	14020442	G	A	14020442	3	1	251	1	0	0	0	0	1	0	0	0	5253	942	33	2	423	2	ERCC4	16	14020442	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08		14020442	76334311	238	45196											
C16orf46	123775	broad.mit.edu	37	chr16	81087678	81087678	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaaactgatccctctcctActttatcttctttttcctgt	6	19	4	12	0	3	2	0	2	3	0	6	2	5	2	3	0	2	0	3	0	3	6			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:81087678A>G	ENST00000378611.4	-	4	1280	c.1165T>C	c.(1165-1167)Tag>Cag	p.*389Q	RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	0										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCCTCTCCTACTTTATCTTC	0.408													16	38					0	0	0	0	G	81087678	A	G	81087678	4	3	251	1	0	0	0	0	0	0	0	0	1828	404	14	5	5	5	C16orf46	16	81087678	Nonstop_Mutation	SNP	A	TCGA-CV-6936-01A-11D-1912-08	67067236	81087678	9267075	239	45197											
MBTPS1	8720	broad.mit.edu	37	chr16	84108251	84108251	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccgttgaggatggtgacaTtaacaactgtcggcattcct	9	12	11	9	2	0	2	0	2	0	0	2	3	1	3	2	3	3	2	2	3	2	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:84108251T>A	ENST00000343411.3	-	12	2039	c.1544A>T	c.(1543-1545)aAt>aTt	p.N515I	MBTPS1_ENST00000569770.1_Intron	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	515					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GATGGTGACATTAACAACTGT	0.478													16	27					0	0	0	0	A	84108251	T	A	84108251	3	1	251	1	0	0	0	0	1	0	0	0	9430	1493	52	5	1662	5	MBTPS1	16	84108251	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	3020573	84108251	6246502	240	45198											
JPH3	57338	broad.mit.edu	37	chr16	87678544	87678544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaacctcatccccctgCgggccagcaagatccgcgag	10	4	11	16	3	1	2	1	0	0	2	3	3	3	2	5	1	3	2	5	1	3	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:87678544C>T	ENST00000284262.2	+	2	1305	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	355					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CATCCCCCTGCGGGCCAGCAA	0.652													10	24					0	0	0	0	T	87678544	C	T	87678544	3	4	251	1	0	0	0	0	1	0	0	0	8015	759	27	1	1069	1	JPH3	16	87678544	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	3570293	87678544	2676209	241	45199											
ZC3H18	124245	broad.mit.edu	37	chr16	88664701	88664701	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctaatggtgccccgcctctCggacctcacccgctgatgcc	5	8	9	19	3	2	1	1	1	1	0	3	2	2	2	7	2	2	1	7	2	1	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr16:88664701C>T	ENST00000301011.5	+	4	1004	c.804C>T	c.(802-804)ctC>ctT	p.L268L	ZC3H18_ENST00000452588.2_Silent_p.L292L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	268	Pro-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCCGCCTCTCGGACCTCACC	0.537													6	62					0	0	0	0	T	88664701	C	T	88664701	2	4	251	1	0	0	0	0	0	0	0	1	17663	871	31	1		1	ZC3H18	16	88664701	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	986157	88664701	1690052	242	45200											
RPA1	6117	broad.mit.edu	37	chr17	1783840	1783840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgtttcttttacaggctGataaatttgatggttctaga	9	18	10	4	0	2	3	0	2	2	1	2	3	2	3	0	3	1	3	0	3	4	7			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:1783840G>A	ENST00000254719.5	+	12	1206	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	366					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TTTACAGGCTGATAAATTTGA	0.428								Nucleotide excision repair (NER)					16	33					0	0	0	0	A	1783840	G	A	1783840	3	1	251	1	0	0	0	0	1	0	0	0	13621	1290	45	2	1142	2	RPA1	17	1783840	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08		1783840	79411370	243	45201											
NEURL4	84461	broad.mit.edu	37	chr17	7230539	7230539	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggcctgcgctggggaCaccatgaaggctggggacca	7	4	18	12	2	0	1	0	1	0	0	0	3	0	3	4	7	1	2	4	7	1	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7230539C>T	ENST00000399464.2	-	3	753	c.738G>A	c.(736-738)gtG>gtA	p.V246V	NEURL4_ENST00000570460.1_Intron|NEURL4_ENST00000315614.7_Silent_p.V246V	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGCTGGGGACACCATGAAGG	0.627													8	16					0	0	0	0	T	7230539	C	T	7230539	2	4	251	1	0	0	0	0	0	0	0	1	10417	465	17	4		4	NEURL4	17	7230539	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	5446699	7230539	73964671	244	45202											
POLR2A	5430	broad.mit.edu	37	chr17	7399540	7399540	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcccacaggaaacatgacaGagtgtcctggccactttggc	10	8	11	12	0	0	2	0	1	0	1	2	3	2	3	3	3	1	0	3	3	1	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7399540G>C	ENST00000322644.6	+	3	637	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	POLR2A_ENST00000572844.1_Missense_Mutation_p.E80Q	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	80					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAACATGACAGAGTGTCCTGG	0.537													6	48					0	0	0	0	C	7399540	G	C	7399540	3	2	251	1	0	0	0	0	1	0	0	0	12286	943	33	2	248	2	POLR2A	17	7399540	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	169001	7399540	73795670	245	45203											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	6	9	14	12	2	2	0	2	0	0	0	3	0	3	0	3	3	3	2	3	3	1	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7578413C>A	ENST00000420246.2	-	5	649	c.517G>T	c.(517-519)Gtg>Ttg	p.V173L	TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCCTCACAACCTCCGTC	0.662		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	22					9.65021e-13	1.99145e-12	1	0	A	7578413	C	A	7578413	3	1	251	1	0	0	0	0	1	0	0	0	16476	478	17	4	781	4	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	178873	7578413	73616797	246	45204											
DNAH2	146754	broad.mit.edu	37	chr17	7637808	7637808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccatgatccactggaccCggcagataaaggagatgctc	11	7	10	13	1	0	3	0	1	0	2	3	5	2	4	4	3	1	2	4	3	2	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7637808C>T	ENST00000572933.1	+	7	2220	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	DNAH2_ENST00000082259.3_Missense_Mutation_p.R254W|DNAH2_ENST00000570791.1_Missense_Mutation_p.R254W|DNAH2_ENST00000389173.2_Missense_Mutation_p.R254W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	254	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCACTGGACCCGGCAGATAAA	0.537													9	38					0	0	0	0	T	7637808	C	T	7637808	3	4	251	1	0	0	0	0	1	0	0	0	4639	643	23	1	782	1	DNAH2	17	7637808	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	59395	7637808	73557402	247	45205											
KDM6B	23135	broad.mit.edu	37	chr17	7752018	7752018	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagcccggccagcctgctCaaatccttggcctccgtgct	5	8	9	19	2	1	0	1	0	0	0	3	0	3	0	7	2	4	2	7	2	1	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7752018C>G	ENST00000254846.5	+	11	2801	c.2412C>G	c.(2410-2412)ctC>ctG	p.L804L	KDM6B_ENST00000448097.2_Silent_p.L804L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	804	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L804L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCAGCCTGCTCAAATCCTTGG	0.642													6	52					0	0	0	0	G	7752018	C	G	7752018	2	3	251	1	0	0	0	0	0	0	0	1	8190	813	29	2		2	KDM6B	17	7752018	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	114210	7752018	73443192	248	45206											
CHD3	1107	broad.mit.edu	37	chr17	7794330	7794330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtggagcatgtgttctctGaggaggattaccacacgctc	9	11	12	9	1	1	1	0	1	1	0	3	4	1	4	1	3	2	3	1	3	1	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:7794330G>A	ENST00000380358.4	+	4	635	c.634G>A	c.(634-636)Gag>Aag	p.E212K	CHD3_ENST00000358181.4_Missense_Mutation_p.E153K|CHD3_ENST00000330494.7_Missense_Mutation_p.E153K	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	153	Poly-Ala.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGTGTTCTCTGAGGAGGATTA	0.512													28	70					0	0	0	0	A	7794330	G	A	7794330	3	1	251	1	0	0	0	0	1	0	0	0	3355	1291	45	2	752	2	CHD3	17	7794330	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	42312	7794330	73400880	249	45207											
MYH8	4626	broad.mit.edu	37	chr17	10309390	10309390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttctgatattctaccctCattaggaatcccctacagac	11	13	4	13	0	4	2	1	1	3	1	5	3	5	3	3	1	2	0	3	1	5	6			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:10309390C>G	ENST00000403437.2	-	21	2494	c.2400G>C	c.(2398-2400)atG>atC	p.M800I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	800	IQ.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTCTACCCTCATTAGGAATC	0.373									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				8	66					0	0	0	0	G	10309390	C	G	10309390	3	3	251	1	0	0	0	0	1	0	0	0	10111	826	29	2	3493	2	MYH8	17	10309390	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	2515060	10309390	70885820	250	45208											
DNAH9	1770	broad.mit.edu	37	chr17	11607549	11607549	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctgtactcagatctggtgGacaacagaagtgggcatggc	11	8	13	9	0	2	2	1	0	1	2	2	3	2	3	1	4	2	2	1	4	3	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:11607549G>A	ENST00000262442.3	+	25	5249	c.5181G>A	c.(5179-5181)tgG>tgA	p.W1727*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.W1727*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1727	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATCTGGTGGACAACAGAAG	0.507													5	112					0	0	0	0	A	11607549	G	A	11607549	4	1	251	1	0	0	0	0	0	1	0	0	4644	1183	41	2	5279	2	DNAH9	17	11607549	Nonsense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1298159	11607549	69587661	251	45209											
PRPSAP2	5636	broad.mit.edu	37	chr17	18775924	18775924	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaaattcaagagtctgtGaggggaaaagatgttttcat	14	12	11	4	0	3	3	2	1	1	2	3	4	3	4	0	2	1	2	0	2	5	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:18775924G>T	ENST00000268835.2	+	5	484	c.201G>T	c.(199-201)gtG>gtT	p.V67V	PRPSAP2_ENST00000536323.1_5'UTR|PRPSAP2_ENST00000542013.1_Silent_p.V67V|PRPSAP2_ENST00000419071.2_Intron	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	67					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						AAGAGTCTGTGAGGGGAAAAG	0.348													41	168					1.57019e-19	3.30031e-19	1	0	T	18775924	G	T	18775924	2	4	251	1	0	0	0	0	0	0	0	1	12662	1277	45	2		2	PRPSAP2	17	18775924	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	7168375	18775924	62419286	252	45210											
KIAA0100	9703	broad.mit.edu	37	chr17	26965108	26965108	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagaggctggttatagCtaccctagagaagaagcaga	13	6	13	9	0	0	4	0	0	0	4	0	5	0	4	2	3	3	4	2	3	6	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:26965108C>G	ENST00000528896.2	-	14	1591	c.1517G>C	c.(1516-1518)aGc>aCc	p.S506T	KIAA0100_ENST00000544884.1_Missense_Mutation_p.S363T|KIAA0100_ENST00000389003.3_Missense_Mutation_p.S363T	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	506						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTGGTTATAGCTACCCTAGAG	0.498													12	54					0	0	0	0	G	26965108	C	G	26965108	3	3	251	1	0	0	0	0	1	0	0	0	8205	797	28	4	5294	4	KIAA0100	17	26965108	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	8189184	26965108	54230102	253	45211											
KRT27	342574	broad.mit.edu	37	chr17	38938473	38938473	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggaggccaagcggtcgttGaggttctgcatggtcacctt	7	11	14	9	2	2	1	1	1	1	0	3	2	2	2	2	5	2	3	2	5	2	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:38938473G>C	ENST00000301656.3	-	1	313	c.273C>G	c.(271-273)ctC>ctG	p.L91L		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	91	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGCGGTCGTTGAGGTTCTGCA	0.572													33	63					0	0	0	0	C	38938473	G	C	38938473	2	2	251	1	0	0	0	0	0	0	0	1	8516	1277	45	2		2	KRT27	17	38938473	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	11973365	38938473	42256737	254	45212											
DHX8	1659	broad.mit.edu	37	chr17	41585799	41585799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatccctgggacctgatgttCcagagttaattatcctccca	10	12	7	12	0	0	2	0	1	0	1	4	3	4	3	5	1	0	2	5	1	3	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:41585799C>T	ENST00000262415.3	+	16	2485	c.2413C>T	c.(2413-2415)Cca>Tca	p.P805S	DHX8_ENST00000540306.1_Missense_Mutation_p.P805S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	805	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACCTGATGTTCCAGAGTTAAT	0.488													13	61					0	0	0	0	T	41585799	C	T	41585799	3	4	251	1	0	0	0	0	1	0	0	0	4552	855	30	2	2475	2	DHX8	17	41585799	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	2647326	41585799	39609411	255	45213											
ARHGAP27	201176	broad.mit.edu	37	chr17	43480174	43480174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcaggggtggaaaacttgGaaggctgcctctgtgggaga	10	8	16	7	0	2	1	1	0	1	1	2	4	2	3	1	6	2	1	1	6	3	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:43480174G>A	ENST00000532038.1	-	8	1118	c.983C>T	c.(982-984)tCc>tTc	p.S328F	ARHGAP27_ENST00000532891.2_Missense_Mutation_p.S528F|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.S182F|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.S209F|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.S523F|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.S550F|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.S209F			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	550	WW 2.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GGAAAACTTGGAAGGCTGCCT	0.572													19	38					0	0	0	0	A	43480174	G	A	43480174	3	1	251	1	0	0	0	0	1	0	0	0	878	1174	41	2	1056	2	ARHGAP27	17	43480174	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1894375	43480174	37715036	256	45214											
ABCA8	10351	broad.mit.edu	37	chr17	66890418	66890418	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgggaagcaattcaatcTtttggcattgcatgctaacg	12	12	9	8	1	2	0	1	0	1	0	2	1	2	1	0	2	5	4	0	2	5	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr17:66890418T>C	ENST00000269080.2	-	21	2949	c.2812A>G	c.(2812-2814)Aga>Gga	p.R938G	ABCA8_ENST00000430352.2_Missense_Mutation_p.R978G|ABCA8_ENST00000586539.1_Missense_Mutation_p.R978G	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	938						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CAATTCAATCTTTTGGCATTG	0.313													7	14					0	0	0	0	C	66890418	T	C	66890418	3	2	251	1	0	0	0	0	1	0	0	0	38	1617	56	5	2005	5	ABCA8	17	66890418	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	23410244	66890418	14304792	257	45215											
NOL4	8715	broad.mit.edu	37	chr18	31523045	31523045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacctgctgtctctccagaCgcatcctcttggcggcattt	5	13	9	14	2	2	1	0	0	2	1	5	1	4	1	3	2	2	4	3	2	1	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr18:31523045C>T	ENST00000261592.5	-	9	1823	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	NOL4_ENST00000535384.1_Missense_Mutation_p.R224H|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.R435H|NOL4_ENST00000535475.1_Missense_Mutation_p.R290H	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	509						nucleolus	RNA binding	p.R509L(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTCTCCAGACGCATCCTCTT	0.443													10	56					0	0	0	0	T	31523045	C	T	31523045	3	4	251	1	0	0	0	0	1	0	0	0	10594	536	19	1	402	1	NOL4	18	31523045	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08		31523045	46554203	258	45216											
DTNA	1837	broad.mit.edu	37	chr18	32428280	32428280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcttgagagttcaaaccGgcttgatgaagaacacaggc	13	8	11	9	1	1	4	1	3	0	2	1	5	1	4	1	2	3	3	1	2	3	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr18:32428280G>A	ENST00000283365.9	+	13	1466	c.1115G>A	c.(1114-1116)cGg>cAg	p.R372Q	DTNA_ENST00000269190.7_Missense_Mutation_p.R430Q|DTNA_ENST00000598774.1_Missense_Mutation_p.R372Q|DTNA_ENST00000348997.5_Missense_Mutation_p.R426Q|DTNA_ENST00000597674.1_Missense_Mutation_p.R51Q|DTNA_ENST00000598334.1_Missense_Mutation_p.R369Q|DTNA_ENST00000269192.7_Missense_Mutation_p.R138Q|DTNA_ENST00000399097.3_Missense_Mutation_p.R77Q|DTNA_ENST00000598142.1_Missense_Mutation_p.R372Q|DTNA_ENST00000399121.5_Missense_Mutation_p.R369Q|DTNA_ENST00000591182.1_Missense_Mutation_p.R77Q|DTNA_ENST00000599844.1_Missense_Mutation_p.R51Q|DTNA_ENST00000597599.1_Missense_Mutation_p.R369Q|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000269191.6_Missense_Mutation_p.R429Q|DTNA_ENST00000399113.3_Missense_Mutation_p.R429Q|DTNA_ENST00000444659.1_Missense_Mutation_p.R429Q|DTNA_ENST00000556414.3_Missense_Mutation_p.R81Q|DTNA_ENST00000601125.1_Missense_Mutation_p.R51Q|DTNA_ENST00000595022.1_Missense_Mutation_p.R369Q	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	401					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGTTCAAACCGGCTTGATGAA	0.448													20	24					0	0	0	0	A	32428280	G	A	32428280	3	1	251	1	0	0	0	0	1	0	0	0	4824	1116	39	1	1371	1	DTNA	18	32428280	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	905235	32428280	45648968	259	45217											
CDH19	28513	broad.mit.edu	37	chr18	64178908	64178908	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatctctatccactgcactGatagtctgaattacctaaaa	13	13	4	11	0	3	2	1	2	2	0	5	2	4	2	2	0	2	1	2	0	6	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr18:64178908G>A	ENST00000262150.2	-	10	1765	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	491	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CCACTGCACTGATAGTCTGAA	0.318													20	32					0	0	0	0	A	64178908	G	A	64178908	2	1	251	1	0	0	0	0	0	0	0	1	3133	1280	45	2		2	CDH19	18	64178908	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	31750628	64178908	13898340	260	45218											
SHD	56961	broad.mit.edu	37	chr19	4282869	4282869	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttccttctctccgcagctGgaagccgacactgagtattt	7	12	8	14	2	1	1	0	1	1	0	4	3	3	2	4	1	2	3	4	1	2	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:4282869G>A	ENST00000543264.2	+	2	1763	c.300G>A	c.(298-300)ctG>ctA	p.L100L	SHD_ENST00000599689.1_Silent_p.L100L	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	100										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGCAGCTGGAAGCCGACA	0.572													32	54					0	0	0	0	A	4282869	G	A	4282869	2	1	251	1	0	0	0	0	0	0	0	1	14363	1335	47	4		4	SHD	19	4282869	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08		4282869	54846114	261	45219											
CD320	51293	broad.mit.edu	37	chr19	8367860	8367860	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttccgggaggatctcattGgttcctgcaataagcccagg	8	10	11	12	1	1	0	1	0	1	0	4	2	3	2	4	4	2	2	4	4	2	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:8367860G>A	ENST00000301458.5	-	4	571	c.507C>T	c.(505-507)acC>acT	p.T169T	CD320_ENST00000537716.2_Silent_p.T127T	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	169					regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						GGATCTCATTGGTTCCTGCAA	0.607													4	15					0	0	0	0	A	8367860	G	A	8367860	2	1	251	1	0	0	0	0	0	0	0	1	3033	1335	47	4		4	CD320	19	8367860	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	4084991	8367860	50761123	262	45220											
ZNF266	10781	broad.mit.edu	37	chr19	9524534	9524534	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgaaggctttcccacaaTccttacatttatagggtttt	10	15	8	8	0	0	1	0	1	0	0	2	2	2	1	2	2	1	2	2	2	5	7			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:9524534T>G	ENST00000592904.1	-	5	3143	c.1067A>C	c.(1066-1068)gAt>gCt	p.D356A	ZNF266_ENST00000590306.1_Missense_Mutation_p.D356A|ZNF266_ENST00000361451.2_Missense_Mutation_p.D356A|ZNF266_ENST00000361151.1_Missense_Mutation_p.D356A|ZNF266_ENST00000592292.1_Missense_Mutation_p.D356A|ZNF266_ENST00000588933.1_Missense_Mutation_p.D356A|ZNF266_ENST00000588221.1_Missense_Mutation_p.D356A			Q14584	ZN266_HUMAN	zinc finger protein 266	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTTCCCACAATCCTTACATTT	0.413													18	46					0	0	0	0	G	9524534	T	G	9524534	3	3	251	1	0	0	0	0	1	0	0	0	17900	1435	50	5	586	5	ZNF266	19	9524534	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	1156674	9524534	49604449	263	45221											
ZNF442	79973	broad.mit.edu	37	chr19	12461237	12461237	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttcgaaagcttgagtgatGagataacgctttcccacact	12	11	8	10	2	0	3	0	3	0	1	2	5	1	3	1	0	2	2	1	0	2	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:12461237G>C	ENST00000242804.4	-	6	1744	c.1162C>G	c.(1162-1164)Cat>Gat	p.H388D	ZNF442_ENST00000438182.1_Missense_Mutation_p.H319D	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CTTGAGTGATGAGATAACGCT	0.428													9	168					0	0	0	0	C	12461237	G	C	12461237	3	2	251	1	0	0	0	0	1	0	0	0	18010	1290	45	2	725	2	ZNF442	19	12461237	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	2936703	12461237	46667746	264	45222											
MAST1	22983	broad.mit.edu	37	chr19	12969220	12969220	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgccgggggagaatgacttCgataccatcaagctcataag	12	7	11	11	3	2	2	2	1	0	1	3	4	2	2	3	2	2	1	3	2	4	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:12969220C>T	ENST00000251472.4	+	11	1161	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	MAST1_ENST00000591495.1_Silent_p.F370F	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	374	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGAATGACTTCGATACCATCA	0.617													21	131					0	0	0	0	T	12969220	C	T	12969220	2	4	251	1	0	0	0	0	0	0	0	1	9393	883	31	1		1	MAST1	19	12969220	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	507983	12969220	46159763	265	45223											
ZNF708	7562	broad.mit.edu	37	chr19	21492100	21492100	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atattccagggctcttttccTtgctccagacaggtgatcag	8	13	9	11	0	2	2	1	1	1	1	5	2	5	2	3	2	1	2	3	2	1	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:21492100T>A	ENST00000356929.3	-	3	371	c.174A>T	c.(172-174)caA>caT	p.Q58H		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GCTCTTTTCCTTGCTCCAGAC	0.428													24	72					0	0	0	0	A	21492100	T	A	21492100	3	1	251	1	0	0	0	0	1	0	0	0	18207	1606	56	5	1525	5	ZNF708	19	21492100	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	8522880	21492100	37636883	266	45224											
ZNF493	284443	broad.mit.edu	37	chr19	21606747	21606747	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acataaaagaattcatactgGagagaaaccctacaaatgtg	19	8	7	7	0	1	2	1	0	0	2	1	4	1	3	1	1	3	0	1	1	7	4	rs143136118		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:21606747G>C	ENST00000392288.2	+	4	1395	c.1286G>C	c.(1285-1287)gGa>gCa	p.G429A	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.G301A	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATTCATACTGGAGAGAAACCC	0.338													3	30					0	0	0	0	C	21606747	G	C	21606747	3	2	251	1	0	0	0	0	1	0	0	0	18039	1174	41	2	1363	2	ZNF493	19	21606747	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	114647	21606747	37522236	267	45225											
ZNF91	7644	broad.mit.edu	37	chr19	23542840	23542840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattatcttatgttcagtaaGagttgaagatttcctaaaag	15	15	7	4	0	2	3	1	1	1	2	3	3	3	3	1	0	0	3	1	0	7	7			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:23542840G>A	ENST00000300619.7	-	4	3146	c.2941C>T	c.(2941-2943)Ctt>Ttt	p.L981F	ZNF91_ENST00000397082.2_Missense_Mutation_p.L949F|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	981						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTTCAGTAAGAGTTGAAGAT	0.378													5	48					0	0	0	0	A	23542840	G	A	23542840	3	1	251	1	0	0	0	0	1	0	0	0	18293	942	33	2	638	2	ZNF91	19	23542840	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1936093	23542840	35586143	268	45226											
KIRREL2	84063	broad.mit.edu	37	chr19	36355599	36355599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctggttctggaggagaaagGgactctggagaccaaggtga	11	8	16	6	0	3	3	0	1	3	2	3	7	3	5	1	6	0	1	1	6	2	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:36355599G>A	ENST00000360202.5	+	14	1973	c.1775G>A	c.(1774-1776)gGg>gAg	p.G592E	KIRREL2_ENST00000347900.6_Missense_Mutation_p.G542E|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G557E|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G592E|KIRREL2_ENST00000586102.2_Missense_Mutation_p.G572E	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	592					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGGAGAAAGGGACTCTGGAG	0.597													26	16					0	0	0	0	A	36355599	G	A	36355599	3	1	251	1	0	0	0	0	1	0	0	0	8377	1232	43	4	1829	4	KIRREL2	19	36355599	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	12812759	36355599	22773384	269	45227											
PSG5	5673	broad.mit.edu	37	chr19	43688992	43688992	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcctatcacctcgctttatGatgtgtaaggtgtaggatcc	8	14	10	9	1	1	1	1	1	0	0	4	2	3	2	3	2	0	3	3	2	4	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:43688992G>C	ENST00000404580.1	-	2	460	c.372C>G	c.(370-372)atC>atG	p.I124M	PSG5_ENST00000599812.1_Missense_Mutation_p.I124M|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000366175.3_Missense_Mutation_p.I124M|PSG5_ENST00000342951.6_Missense_Mutation_p.I124M|PSG5_ENST00000407568.1_Missense_Mutation_p.I124M|PSG5_ENST00000407356.1_Missense_Mutation_p.I124M			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	124	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTCGCTTTATGATGTGTAAGG	0.493													114	238					0	0	0	0	C	43688992	G	C	43688992	3	2	251	1	0	0	0	0	1	0	0	0	12737	1280	45	2	651	2	PSG5	19	43688992	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	7333393	43688992	15439991	270	45228											
ZNF233	353355	broad.mit.edu	37	chr19	44777511	44777511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtacacaaaagagagaaagCttttagccacaataattgtg	18	9	8	6	0	0	2	0	0	0	2	0	3	0	2	1	0	3	2	1	0	7	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:44777511C>A	ENST00000391958.2	+	5	825	c.698C>A	c.(697-699)gCt>gAt	p.A233D	ZNF233_ENST00000334152.1_Missense_Mutation_p.A215D|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AGAGAGAAAGCTTTTAGCCAC	0.368													9	26					0.000274275	0.00053519	1	0	A	44777511	C	A	44777511	3	1	251	1	0	0	0	0	1	0	0	0	17881	797	28	4	712	4	ZNF233	19	44777511	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	1088519	44777511	14351472	271	45229											
SYMPK	8189	broad.mit.edu	37	chr19	46328447	46328447	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accggctgctcaatgaccctCagcaccgtccgcttgatgtc	7	9	9	16	3	2	2	2	2	0	0	4	2	3	2	4	1	2	4	4	1	1	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:46328447C>G	ENST00000245934.7	-	18	2716	c.2472G>C	c.(2470-2472)ctG>ctC	p.L824L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	824					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.L824L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAATGACCCTCAGCACCGTCC	0.647													5	66					0	0	0	0	G	46328447	C	G	46328447	2	3	251	1	0	0	0	0	0	0	0	1	15530	813	29	2		2	SYMPK	19	46328447	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	1550936	46328447	12800536	272	45230											
ARHGAP35	2909	broad.mit.edu	37	chr19	47503732	47503732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acaatcattgaactctttatCcagcagtgccccttcttctt	9	15	4	13	0	4	1	1	1	3	0	5	1	5	1	3	0	3	1	3	0	3	6			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:47503732C>G	ENST00000404338.3	+	6	4287	c.4287C>G	c.(4285-4287)atC>atG	p.I1429M		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1429	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AACTCTTTATCCAGCAGTGCC	0.597													30	103					0	0	0	0	G	47503732	C	G	47503732	3	3	251	1	0	0	0	0	1	0	0	0	6845	845	30	2	4309	2	ARHGAP35	19	47503732	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	1175285	47503732	11625251	273	45231											
NUP62	23636	broad.mit.edu	37	chr19	50412910	50412910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggtggaaggggtacttGtggctggttggaagggagcc	6	8	21	6	1	0	0	0	0	0	0	0	3	0	3	2	9	2	3	2	9	3	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:50412910G>C	ENST00000596217.1	-	2	2042	c.155C>G	c.(154-156)aCa>aGa	p.T52R	NUP62_ENST00000597029.1_Missense_Mutation_p.T52R|NUP62_ENST00000352066.3_Missense_Mutation_p.T52R|NUP62_ENST00000413454.1_Missense_Mutation_p.T52R|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.T52R|IL4I1_ENST00000341114.3_Intron|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000422090.2_Missense_Mutation_p.T52R			P37198	NUP62_HUMAN	nucleoporin 62kDa	52	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGGGTACTTGTGGCTGGTTG	0.567													7	134					0	0	0	0	C	50412910	G	C	50412910	3	2	251	1	0	0	0	0	1	0	0	0	10839	1377	48	4	1417	4	NUP62	19	50412910	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	2909178	50412910	8716073	274	45232											
SIGLEC5	8778	broad.mit.edu	37	chr19	52115506	52115506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttgcttgtcttgatctccGagtactccgtggtgcttggg	4	15	12	10	2	2	1	0	1	2	0	4	2	3	1	2	2	3	3	2	2	1	5			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr19:52115506G>A	ENST00000222107.4	-	9	1772	c.1634C>T	c.(1633-1635)tCg>tTg	p.S545L	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S545L|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S545L|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S545L|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S545L			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	545					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGATCTCCGAGTACTCCGT	0.537													16	80					0	0	0	0	A	52115506	G	A	52115506	3	1	251	1	0	0	0	0	1	0	0	0	14399	1059	37	1	25	1	SIGLEC5	19	52115506	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1702596	52115506	7013477	275	45233											
TGM6	343641	broad.mit.edu	37	chr20	2375175	2375175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaggagtacccctgccctGagctggtggttcgcaggggc	5	7	15	14	1	0	1	0	1	0	0	1	2	0	2	4	5	3	4	4	5	1	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:2375175G>A	ENST00000202625.2	+	2	146	c.85G>A	c.(85-87)Gag>Aag	p.E29K	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.E29K	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	29					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCCCTGCCCTGAGCTGGTGGT	0.627													4	30					0	0	0	0	A	2375175	G	A	2375175	3	1	251	1	0	0	0	0	1	0	0	0	15928	1291	45	2	91	2	TGM6	20	2375175	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08		2375175	60650345	276	45234											
TM9SF4	9777	broad.mit.edu	37	chr20	30729430	30729430	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagtggagcagagccgactCgtggccgagcggatcacaga	11	4	15	11	4	1	2	1	0	0	2	2	6	1	4	2	3	3	1	2	3	0	0	rs117023270	by1000genomes	TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:30729430C>T	ENST00000217315.5	+	4	649	c.309C>T	c.(307-309)ctC>ctT	p.L103L	TM9SF4_ENST00000398022.2_Silent_p.L120L			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	120						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGAGCCGACTCGTGGCCGAGC	0.577													9	137					0	0	0	0	T	30729430	C	T	30729430	2	4	251	1	0	0	0	0	0	0	0	1	16074	871	31	1		1	TM9SF4	20	30729430	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	28354255	30729430	32296090	277	45235											
NCOA6	23054	broad.mit.edu	37	chr20	33329653	33329653	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcttcgacactgggaagTttgttaggatccgaaggctg	8	13	12	8	2	1	0	0	0	1	0	4	4	2	2	1	3	0	3	1	3	3	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:33329653T>C	ENST00000374796.2	-	12	6977	c.4407A>G	c.(4405-4407)aaA>aaG	p.K1469K	NCOA6_ENST00000359003.2_Silent_p.K1469K			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1469					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CACTGGGAAGTTTGTTAGGAT	0.448													31	140					0	0	0	0	C	33329653	T	C	33329653	2	2	251	1	0	0	0	0	0	0	0	1	10303	1722	60	5		5	NCOA6	20	33329653	Silent	SNP	T	TCGA-CV-6936-01A-11D-1912-08	2600223	33329653	29695867	278	45236											
KIAA1755	85449	broad.mit.edu	37	chr20	36850870	36850870	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctgacatcagggctgaagtCcagcctgctggcatcatgct	8	9	11	13	0	2	2	2	2	0	0	3	2	3	2	3	2	3	4	3	2	1	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:36850870C>G	ENST00000279024.4	-	10	2669	c.2398G>C	c.(2398-2400)Gac>Cac	p.D800H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	800										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGGCTGAAGTCCAGCCTGCTG	0.642											OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	95					0	0	0	0	G	36850870	C	G	36850870	3	3	251	1	0	0	0	0	1	0	0	0	8308	855	30	2	1224	2	KIAA1755	20	36850870	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	3521217	36850870	26174650	279	45237											
PLCG1	5335	broad.mit.edu	37	chr20	39791883	39791883	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgccgagtgtcccttcctGagttccagcagttccttctt	4	16	8	13	1	1	1	0	1	1	0	5	2	5	1	5	0	2	3	5	0	0	6			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:39791883G>C	ENST00000373272.2	+	8	1162	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	PLCG1_ENST00000244007.3_Missense_Mutation_p.E253Q|PLCG1_ENST00000373271.1_Missense_Mutation_p.E253Q	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	253					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTCCCTTCCTGAGTTCCAGCA	0.607													20	111					0	0	0	0	C	39791883	G	C	39791883	3	2	251	1	0	0	0	0	1	0	0	0	12107	1291	45	2	787	2	PLCG1	20	39791883	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	2941013	39791883	23233637	280	45238											
SLCO4A1	28231	broad.mit.edu	37	chr20	61292481	61292481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaaggacagcagccgtgggGaggcgagcaacccggacttt	10	5	16	10	3	0	1	0	1	0	0	0	5	0	4	2	5	4	2	2	5	2	1	rs138628669		TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:61292481G>A	ENST00000217159.1	+	5	1280	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.E359K	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	359					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CAGCCGTGGGGAGGCGAGCAA	0.617													30	67					0	0	0	0	A	61292481	G	A	61292481	3	1	251	1	0	0	0	0	1	0	0	0	14817	1175	41	2	1089	2	SLCO4A1	20	61292481	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	21500598	61292481	1733039	281	45239											
DIDO1	11083	broad.mit.edu	37	chr20	61541176	61541176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttgtacaatcggtgccatCagcatctccaggtctccatt	9	12	7	13	1	3	0	1	0	2	0	6	0	3	0	3	2	3	2	3	2	2	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:61541176C>G	ENST00000266070.4	-	4	1361	c.1036G>C	c.(1036-1038)Gat>Cat	p.D346H	DIDO1_ENST00000354665.4_Missense_Mutation_p.D346H|DIDO1_ENST00000395340.1_Missense_Mutation_p.D346H|DIDO1_ENST00000395335.2_Missense_Mutation_p.D346H|DIDO1_ENST00000266071.5_Missense_Mutation_p.D346H|DIDO1_ENST00000370368.1_Missense_Mutation_p.D346H|DIDO1_ENST00000395343.1_Missense_Mutation_p.D346H|DIDO1_ENST00000370366.1_Missense_Mutation_p.D346H|DIDO1_ENST00000370371.4_Missense_Mutation_p.D346H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	346					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCGGTGCCATCAGCATCTCCA	0.458													7	170					0	0	0	0	G	61541176	C	G	61541176	3	3	251	1	0	0	0	0	1	0	0	0	4559	826	29	2	5868	2	DIDO1	20	61541176	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	248695	61541176	1484344	282	45240											
SAMD10	140700	broad.mit.edu	37	chr20	62608706	62608706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagtggcaggggatgctctCagctgacaccgtgtgctcca	8	8	13	12	1	1	1	1	1	1	0	3	2	2	2	2	3	3	4	2	3	1	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr20:62608706C>T	ENST00000369886.3	-	2	319	c.145G>A	c.(145-147)Gag>Aag	p.E49K	ZNF512B_ENST00000450537.1_Intron|SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000217130.3_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	49										kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGGATGCTCTCAGCTGACACC	0.652													9	92					0	0	0	0	T	62608706	C	T	62608706	3	4	251	1	0	0	0	0	1	0	0	0	13900	835	29	2	479	2	SAMD10	20	62608706	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	1067530	62608706	416814	283	45241											
GABPA	2551	broad.mit.edu	37	chr21	27130510	27130510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtcatctggaacttctccGaaaatgtatgaaattacagt	14	12	8	7	1	3	1	1	1	2	0	4	4	3	2	1	1	2	1	1	1	6	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr21:27130510G>A	ENST00000354828.3	+	6	1270	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	GABPA_ENST00000400075.3_Missense_Mutation_p.R248Q	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	248	PNT.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.R248Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GAACTTCTCCGAAAATGTATG	0.328													13	28					0	0	0	0	A	27130510	G	A	27130510	3	1	251	1	0	0	0	0	1	0	0	0	6205	1058	37	1	761	1	GABPA	21	27130510	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08		27130510	20999385	284	45242											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338237	28338237	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtgtagcgcgcgtgcttGaccgcgaagaagccgtcgag	8	6	17	10	7	0	2	0	1	0	1	1	4	0	2	2	1	3	2	2	1	3	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr21:28338237G>A	ENST00000284987.5	-	1	595	c.474C>T	c.(472-474)gtC>gtT	p.V158V		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	158					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCGCGTGCTTGACCGCGAAGA	0.657													7	26					0	0	0	0	A	28338237	G	A	28338237	2	1	251	1	0	0	0	0	0	0	0	1	269	1277	45	2		2	ADAMTS5	21	28338237	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1207727	28338237	19791658	285	45243											
WRB	7485	broad.mit.edu	37	chr21	40762689	40762689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagcggagatccaggacatGaagcaggagctctccacagt	13	5	13	10	1	1	3	0	1	1	2	3	6	2	5	2	3	3	2	2	3	1	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr21:40762689G>A	ENST00000333781.5	+	2	309	c.168G>A	c.(166-168)atG>atA	p.M56I	WRB_ENST00000541890.1_Missense_Mutation_p.M56I|WRB_ENST00000466787.1_3'UTR|WRB_ENST00000380708.1_Missense_Mutation_p.M22I|WRB_ENST00000398753.1_Missense_Mutation_p.M22I	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	56						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				TCCAGGACATGAAGCAGGAGC	0.542													4	28					0	0	0	0	A	40762689	G	A	40762689	3	1	251	1	0	0	0	0	1	0	0	0	17497	1290	45	2	174	2	WRB	21	40762689	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	12424452	40762689	7367206	286	45244											
SLC19A1	6573	broad.mit.edu	37	chr21	46951984	46951984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccggcgtgtagcgcaGgtagtcggtgagcaggaaca	10	5	16	10	4	0	1	0	1	0	0	1	2	0	2	1	4	4	5	1	4	3	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr21:46951984G>A	ENST00000311124.4	-	3	420	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	SLC19A1_ENST00000567670.1_Silent_p.L90L|SLC19A1_ENST00000485649.2_Silent_p.L50L|SLC19A1_ENST00000380010.4_Silent_p.L90L	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	90					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GTGTAGCGCAGGTAGTCGGTG	0.672													16	28					0	0	0	0	A	46951984	G	A	46951984	2	1	251	1	0	0	0	0	0	0	0	1	14516	991	35	4		4	SLC19A1	21	46951984	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	6189295	46951984	1177911	287	45245											
DGCR2	9993	broad.mit.edu	37	chr22	19076905	19076905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagttggcttcgtcgctctCatcctcgcaagtcgcccagc	6	10	9	16	4	1	0	1	0	1	0	7	0	2	0	2	1	1	4	2	1	1	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:19076905C>T	ENST00000545799.1	-	2	378	c.178G>A	c.(178-180)Gag>Aag	p.E60K	DGCR2_ENST00000263196.7_Missense_Mutation_p.E60K|DGCR2_ENST00000537045.1_Intron			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	60	LDL-receptor class A.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					TCGTCGCTCTCATCCTCGCAA	0.607													14	123					0	0	0	0	T	19076905	C	T	19076905	3	4	251	1	0	0	0	0	1	0	0	0	4498	835	29	2	1510	2	DGCR2	22	19076905	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08		19076905	32227661	288	45246											
CLTCL1	8218	broad.mit.edu	37	chr22	19183840	19183840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggggtggctcatcatggtGagcacagcattgtcatactc	8	11	13	9	0	3	1	3	1	0	0	4	1	3	1	0	4	3	3	0	4	1	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:19183840G>A	ENST00000263200.10	-	26	4200	c.4128C>T	c.(4126-4128)ctC>ctT	p.L1376L	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Silent_p.L1376L|CLTCL1_ENST00000353891.5_Silent_p.L1376L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1376	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCATCATGGTGAGCACAGCAT	0.567			T	?	ALCL								8	72					0	0	0	0	A	19183840	G	A	19183840	2	1	251	1	0	0	0	0	0	0	0	1	3597	1277	45	2		2	CLTCL1	22	19183840	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	106935	19183840	32120726	289	45247											
CLTCL1	8218	broad.mit.edu	37	chr22	19209480	19209480	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaggacaccttacctatttCttttttctacttcagccacc	9	16	3	13	0	3	0	1	0	2	0	3	1	3	1	4	1	3	0	4	1	4	9			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:19209480C>G	ENST00000263200.10	-	16	2627	c.2555G>C	c.(2554-2556)aGa>aCa	p.R852T	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R852T|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R852T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	852	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTACCTATTTCTTTTTTCTAC	0.418			T	?	ALCL								7	106					0	0	0	0	G	19209480	C	G	19209480	3	3	251	1	0	0	0	0	1	0	0	0	3597	913	32	2	2435	2	CLTCL1	22	19209480	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	25640	19209480	32095086	290	45248											
TBX1	6899	broad.mit.edu	37	chr22	19766783	19766783	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagtgaaagctgagacGtctaggaacacaccagagag	17	4	13	7	1	1	3	0	2	1	2	1	7	1	5	1	2	2	1	1	2	5	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:19766783G>A	ENST00000329705.7	+	9	1179	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	350			T -> M (in dbSNP:rs4819522).		embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				AAGCTGAGACGTCTAGGAACA	0.547													23	137					0	0	0	0	A	19766783	G	A	19766783	2	1	251	1	0	0	0	0	0	0	0	1	15744	1132	40	1		1	TBX1	22	19766783	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	557303	19766783	31537783	291	45249											
PI4KA	5297	broad.mit.edu	37	chr22	21157491	21157491	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttattacctgtgtggtactGactgtggtacttgtagagct	7	16	12	6	0	0	2	0	1	0	1	0	2	0	2	1	2	4	5	1	2	5	6			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:21157491G>A	ENST00000255882.6	-	13	1665	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	PI4KA_ENST00000572273.1_Nonsense_Mutation_p.Q469*	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	469					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)			GTGTGGTACTGACTGTGGTAC	0.547													14	158					0	0	0	0	A	21157491	G	A	21157491	4	1	251	1	0	0	0	0	0	1	0	0	11945	1299	45	2	4901	2	PI4KA	22	21157491	Nonsense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1390708	21157491	30147075	292	45250											
P2RX6	9127	broad.mit.edu	37	chr22	21377467	21377467	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaaaaacacagtcaccttCagcaagttcaacttctctaa	16	10	3	12	0	5	0	4	0	1	0	6	0	5	0	1	0	3	2	1	0	5	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:21377467C>T	ENST00000413302.2	+	6	766	c.618C>T	c.(616-618)ttC>ttT	p.F206F	P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000336296.2_Silent_p.F196F|P2RX6_ENST00000443995.3_Silent_p.F153F|P2RX6_ENST00000401443.1_Silent_p.F180F			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	206					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										CAGTCACCTTCAGCAAGTTCA	0.572													11	283					0	0	0	0	T	21377467	C	T	21377467	2	4	251	1	0	0	0	0	0	0	0	1	11415	825	29	2		2	P2RX6	22	21377467	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	219976	21377467	29927099	293	45251											
MYO18B	84700	broad.mit.edu	37	chr22	26343755	26343755	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgaggaccaggatgacctGaatgagctgatgcagaagca	14	6	14	7	0	0	6	0	5	0	1	0	9	0	8	2	2	3	3	2	2	2	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:26343755G>C	ENST00000335473.7	+	36	5959	c.5709G>C	c.(5707-5709)ctG>ctC	p.L1903L	MYO18B_ENST00000407587.2_Silent_p.L1904L|MYO18B_ENST00000536101.1_Silent_p.L1903L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1903	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGATGACCTGAATGAGCTGA	0.557													9	18					0	0	0	0	C	26343755	G	C	26343755	2	2	251	1	0	0	0	0	0	0	0	1	10136	1277	45	2		2	MYO18B	22	26343755	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	4966288	26343755	24960811	294	45252											
CRYBA4	1413	broad.mit.edu	37	chr22	27026341	27026341	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccgggctaccgaggatttCagtatgtgctggaatgcgat	8	12	13	8	3	1	0	1	0	0	0	2	4	2	2	2	3	3	3	2	3	3	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:27026341C>T	ENST00000354760.3	+	6	516	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	161	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CCGAGGATTTCAGTATGTGCT	0.537													12	35					0	0	0	0	T	27026341	C	T	27026341	4	4	251	1	0	0	0	0	0	1	0	0	3939	827	29	2	499	2	CRYBA4	22	27026341	Nonsense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	682586	27026341	24278225	295	45253											
TCN2	6948	broad.mit.edu	37	chr22	31010483	31010483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttccaccagggccaccattCtgtgggtgagtaggtcagac	8	10	12	11	0	2	2	1	1	1	1	3	2	3	2	4	3	0	1	4	3	1	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:31010483C>T	ENST00000215838.3	+	4	1069	c.575C>T	c.(574-576)tCt>tTt	p.S192F	TCN2_ENST00000405742.3_Missense_Mutation_p.S188F|TCN2_ENST00000407817.3_Missense_Mutation_p.S165F			P20062	TCO2_HUMAN	transcobalamin II	192	Cobalamin binding.				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)	GGCCACCATTCTGTGGGTGAG	0.602													9	17					0	0	0	0	T	31010483	C	T	31010483	3	4	251	1	0	0	0	0	1	0	0	0	15801	913	32	2	589	2	TCN2	22	31010483	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	3984142	31010483	20294083	296	45254											
FOXRED2	80020	broad.mit.edu	37	chr22	36886209	36886209	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctgctctccactctgTgctgccaaaggctctcggta	6	10	11	14	1	3	0	0	0	3	0	5	1	3	1	3	3	4	4	3	3	2	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:36886209T>C	ENST00000397224.4	-	9	1994	c.1901A>G	c.(1900-1902)cAc>cGc	p.H634R	FOXRED2_ENST00000216187.6_Missense_Mutation_p.H634R|FOXRED2_ENST00000397223.4_Missense_Mutation_p.H634R|FOXRED2_ENST00000366463.3_Missense_Mutation_p.H186R	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	634					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCCACTCTGTGCTGCCAAAG	0.637													12	100					0	0	0	0	C	36886209	T	C	36886209	3	2	251	1	0	0	0	0	1	0	0	0	6081	1696	59	5	157	5	FOXRED2	22	36886209	Missense_Mutation	SNP	T	TCGA-CV-6936-01A-11D-1912-08	5875726	36886209	14418357	297	45255											
MKL1	57591	broad.mit.edu	37	chr22	40825650	40825650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggactcaacaggaaggatGttcttctccaccagctccat	10	10	8	13	0	3	0	1	0	2	0	5	3	4	3	3	3	2	2	3	3	2	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chr22:40825650G>T	ENST00000396617.3	-	7	851	c.261C>A	c.(259-261)aaC>aaA	p.N87K	MKL1_ENST00000402630.1_Missense_Mutation_p.N87K|MKL1_ENST00000402042.1_Missense_Mutation_p.N87K|MKL1_ENST00000407029.1_Missense_Mutation_p.N87K|MKL1_ENST00000355630.3_Missense_Mutation_p.N87K			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	87	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						CAGGAAGGATGTTCTTCTCCA	0.577			T	RBM15	acute megakaryocytic leukemia								35	14					1.99505e-19	4.1804e-19	1	0	T	40825650	G	T	40825650	3	4	251	1	0	0	0	0	1	0	0	0	9670	1368	48	4	2570	4	MKL1	22	40825650	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	3939441	40825650	10478916	298	45256											
ASMTL	8623	broad.mit.edu	37	chrX	1554652	1554652	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaatcagccccccgactgtCtgtgagaggaagggacagag	12	5	14	10	1	2	3	1	1	1	3	2	7	2	5	3	2	1	0	3	2	2	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:1554652C>T	ENST00000534940.1	-	4	325		c.e4-1		ASMTL_ENST00000416733.2_Intron|ASMTL_ENST00000381317.3_Splice_Site|ASMTL_ENST00000381333.4_Splice_Site	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like						melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCCGACTGTCTGTGAGAGGA	0.587													11	69					0	0	0	0	T	1554652	C	T	1554652	5	4	251	1	0	0	0	0	0	0	1	0	1050	927	32	2	1632	2	ASMTL	23	1554652	Splice_Site	SNP	C	TCGA-CV-6936-01A-11D-1912-08		1554652	153715908	299	45257											
CNKSR2	22866	broad.mit.edu	37	chrX	21545080	21545080	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttctgccctccaggatctCtacattccccctcctcctgc	5	12	5	19	0	2	0	0	0	2	0	7	1	6	1	6	1	3	1	6	1	1	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:21545080C>T	ENST00000425654.2	+	10	1533	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L	CNKSR2_ENST00000379510.3_Silent_p.L351L|CNKSR2_ENST00000543067.1_Silent_p.L302L|CNKSR2_ENST00000279451.4_Silent_p.L351L	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	351	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TCCAGGATCTCTACATTCCCC	0.483													16	137					0	0	0	0	T	21545080	C	T	21545080	2	4	251	1	0	0	0	0	0	0	0	1	3637	900	32	2		2	CNKSR2	23	21545080	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	19990428	21545080	133725480	300	45258											
MID1IP1	58526	broad.mit.edu	37	chrX	38664680	38664680	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacactgtgctctcgaaaCtcacgcgcaaagccaacatc	12	7	7	15	3	2	0	1	0	1	0	4	1	2	0	1	0	5	3	1	0	3	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:38664680C>G	ENST00000336949.6	+	2	1426	c.481C>G	c.(481-483)Ctc>Gtc	p.L161V	MID1IP1_ENST00000457894.1_Missense_Mutation_p.L161V|MID1IP1_ENST00000378474.3_Missense_Mutation_p.L161V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	161					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						GCTCTCGAAACTCACGCGCAA	0.627													11	7					0	0	0	0	G	38664680	C	G	38664680	3	3	251	1	0	0	0	0	1	0	0	0	9646	565	20	4	483	4	MID1IP1	23	38664680	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	17119600	38664680	116605880	301	45259											
ATP6AP2	10159	broad.mit.edu	37	chrX	40456555	40456555	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccattcactccttattttctGaggaaactcctgttgttttg	7	18	6	10	0	2	1	1	1	1	0	4	2	4	2	3	1	1	2	3	1	2	7			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:40456555G>C	ENST00000378438.4	+	4	513	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	ATP6AP2_ENST00000544975.1_Missense_Mutation_p.E43Q|ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000535539.1_Intron|ATP6AP2_ENST00000486558.1_Intron	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	119					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTTATTTTCTGAGGAAACTCC	0.338													8	21					0	0	0	0	C	40456555	G	C	40456555	3	2	251	1	0	0	0	0	1	0	0	0	1171	1291	45	2	369	2	ATP6AP2	23	40456555	Missense_Mutation	SNP	G	TCGA-CV-6936-01A-11D-1912-08	1791875	40456555	114814005	302	45260											
UBA1	7317	broad.mit.edu	37	chrX	47074277	47074277	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagctgtgctgtaacgaCgagagcggcgaggatgtcga	9	8	16	8	5	0	2	0	1	0	1	1	7	0	3	0	2	4	3	0	2	1	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:47074277C>T	ENST00000335972.6	+	26	3309	c.3126C>T	c.(3124-3126)gaC>gaT	p.D1042D	UBA1_ENST00000377351.4_Silent_p.D1042D|UBA1_ENST00000377269.3_Silent_p.D490D	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	1042					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCTGTAACGACGAGAGCGGCG	0.627													23	16					0	0	0	0	T	47074277	C	T	47074277	2	4	251	1	0	0	0	0	0	0	0	1	16923	535	19	1		1	UBA1	23	47074277	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	6617722	47074277	108196283	303	45261											
UBQLN2	29978	broad.mit.edu	37	chrX	56591223	56591223	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctggggaaggtacgcAgccttcccgcacagaaaatc	10	7	10	14	2	1	1	0	0	1	1	4	2	3	2	3	3	2	3	3	3	4	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:56591223A>T	ENST00000338222.5	+	1	1198	c.917A>T	c.(916-918)cAg>cTg	p.Q306L		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	306						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GAAGGTACGCAGCCTTCCCGC	0.562													11	3					0	0	0	0	T	56591223	A	T	56591223	3	4	251	1	0	0	0	0	1	0	0	0	16993	188	7	5	919	5	UBQLN2	23	56591223	Missense_Mutation	SNP	A	TCGA-CV-6936-01A-11D-1912-08	9516946	56591223	98679337	304	45262											
ARR3	407	broad.mit.edu	37	chrX	69489243	69489243	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatatagccaacatgtccaAgtaagaattccttctaatcc	14	12	4	11	0	1	1	0	0	1	1	4	1	4	1	4	0	2	1	4	0	8	7			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:69489243A>C	ENST00000374495.3	+	2	106	c.8_splice	c.e2+1	p.K3_splice	ARR3_ENST00000307959.8_Splice_Site_p.K3_splice			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	3					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AACATGTCCAAGTAAGAATTC	0.423													11	5					0	0	0	0	C	69489243	A	C	69489243	5	2	251	1	0	0	0	0	0	0	1	0	983	86	3	5	10	5	ARR3	23	69489243	Splice_Site	SNP	A	TCGA-CV-6936-01A-11D-1912-08	12898020	69489243	85781317	305	45263											
PGAM4	441531	broad.mit.edu	37	chrX	77224532	77224532	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctccatgatagcctcttCagagagaccctccacatgct	10	9	7	15	0	2	3	1	1	1	2	4	4	4	3	4	0	3	2	4	0	1	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:77224532C>G	ENST00000458128.1	-	1	603	c.604G>C	c.(604-606)Gaa>Caa	p.E202Q	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	202					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						ATAGCCTCTTCAGAGAGACCC	0.512													4	179					0	0	0	0	G	77224532	C	G	77224532	3	3	251	1	0	0	0	0	1	0	0	0	11847	835	29	2	164	2	PGAM4	23	77224532	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	7735289	77224532	78046028	306	45264											
NAP1L3	4675	broad.mit.edu	37	chrX	92927456	92927456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagcctttcctcaggaactCttttatgagtctctcttact	8	16	6	11	0	4	1	1	1	3	0	6	3	5	2	2	1	3	0	2	1	4	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:92927456C>G	ENST00000373079.3	-	1	1111	c.848G>C	c.(847-849)aGa>aCa	p.R283T	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	283					nucleosome assembly	chromatin assembly complex		p.R283I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTCAGGAACTCTTTTATGAGT	0.453													3	87					0	0	0	0	G	92927456	C	G	92927456	3	3	251	1	0	0	0	0	1	0	0	0	10228	913	32	2	676	2	NAP1L3	23	92927456	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	15702924	92927456	62343104	307	45265											
TCEAL4	79921	broad.mit.edu	37	chrX	102842017	102842017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggggctggctcattacctCaaggagtataaagaggccat	13	8	12	8	0	2	1	2	0	0	1	2	2	2	2	2	5	1	3	2	5	6	3			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:102842017C>T	ENST00000472745.1	+	3	966	c.414C>T	c.(412-414)ctC>ctT	p.L138L	TCEAL4_ENST00000472484.1_Silent_p.L138L|TCEAL4_ENST00000468024.1_Silent_p.L138L|TCEAL4_ENST00000494801.1_Silent_p.L138L|TCEAL4_ENST00000372629.4_Silent_p.L281L|TCEAL4_ENST00000415568.2_Silent_p.L138L			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						CTCATTACCTCAAGGAGTATA	0.438													11	117					0	0	0	0	T	102842017	C	T	102842017	2	4	251	1	0	0	0	0	0	0	0	1	15767	813	29	2		2	TCEAL4	23	102842017	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	9914561	102842017	52428543	308	45266											
PLP1	5354	broad.mit.edu	37	chrX	103041526	103041526	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgactacaagaccaccatCtgcggcaagggcctgagcgc	10	4	13	14	3	1	2	0	1	1	1	1	3	1	2	3	3	3	1	3	3	3	1			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:103041526C>T	ENST00000418604.1	+	4	604	c.324C>T	c.(322-324)atC>atT	p.I108I	PLP1_ENST00000303958.2_Silent_p.I108I|PLP1_ENST00000361621.2_Silent_p.I108I	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	108					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGACCACCATCTGCGGCAAGG	0.582													12	110					0	0	0	0	T	103041526	C	T	103041526	2	4	251	1	0	0	0	0	0	0	0	1	12176	903	32	2		2	PLP1	23	103041526	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	199509	103041526	52229034	309	45267											
SERPINA7	6906	broad.mit.edu	37	chrX	105280474	105280474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatgatggtgtttggcttGaggtcttgaattagacccac	9	13	11	8	0	1	4	0	3	1	1	1	4	1	4	2	3	0	2	2	3	2	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:105280474G>A	ENST00000327674.4	-	1	911	c.576C>T	c.(574-576)ctC>ctT	p.L192L	SERPINA7_ENST00000372563.1_Silent_p.L192L			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	192					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.L192L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGTTTGGCTTGAGGTCTTGAA	0.418													18	103					0	0	0	0	A	105280474	G	A	105280474	2	1	251	1	0	0	0	0	0	0	0	1	14181	1277	45	2		2	SERPINA7	23	105280474	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	2238948	105280474	49990086	310	45268											
CHRDL1	91851	broad.mit.edu	37	chrX	109922601	109922601	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcttgaagtgaggaagCtcctcaaacatcctcttgga	12	9	9	11	0	2	2	1	2	1	0	4	4	4	4	3	2	3	2	3	2	3	2			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:109922601C>T	ENST00000218054.4	-	11	1399	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	CHRDL1_ENST00000372042.1_Silent_p.E403E|CHRDL1_ENST00000482160.1_Silent_p.E323E|CHRDL1_ENST00000394797.4_Silent_p.E401E|CHRDL1_ENST00000444321.2_Silent_p.E402E|CHRDL1_ENST00000372045.1_Silent_p.E395E|CHRDL1_ENST00000434224.1_Silent_p.E322E	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	395					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AGTGAGGAAGCTCCTCAAACA	0.453													45	15					0	0	0	0	T	109922601	C	T	109922601	2	4	251	1	0	0	0	0	0	0	0	1	3402	796	28	4		4	CHRDL1	23	109922601	Silent	SNP	C	TCGA-CV-6936-01A-11D-1912-08	4642127	109922601	45347959	311	45269											
GPC4	2239	broad.mit.edu	37	chrX	132548982	132548982	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagaagcgcgggcaagccGaaccgtgccatggtgcgggc	9	3	17	12	5	0	1	0	0	0	1	0	3	0	1	3	3	5	1	3	3	3	0			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:132548982G>A	ENST00000370828.3	-	1	536	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	4					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CGGGCAAGCCGAACCGTGCCA	0.701													7	20					0	0	0	0	A	132548982	G	A	132548982	2	1	251	1	0	0	0	0	0	0	0	1	6649	1049	37	1		1	GPC4	23	132548982	Silent	SNP	G	TCGA-CV-6936-01A-11D-1912-08	22626381	132548982	22721578	312	45270											
ATP2B3	492	broad.mit.edu	37	chrX	152845713	152845713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacctcttcagtgttttcctCcagtcccgggagcccgctcc	4	12	8	17	2	2	0	1	0	1	0	6	1	6	1	6	1	2	2	6	1	1	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrX:152845713C>G	ENST00000263519.4	+	20	3746	c.3620C>G	c.(3619-3621)tCc>tGc	p.S1207C	ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000349466.2_Missense_Mutation_p.S1207C	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1207					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTTTCCTCCAGTCCCGGG	0.592													3	75					0	0	0	0	G	152845713	C	G	152845713	3	3	251	1	0	0	0	0	1	0	0	0	1145	855	30	2	3856	2	ATP2B3	23	152845713	Missense_Mutation	SNP	C	TCGA-CV-6936-01A-11D-1912-08	20296731	152845713	2424847	313	45271											
KDM5D	8284	broad.mit.edu	37	chrY	21877710	21877710	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtgttcccatgctcaccGgaggtactgtcggctactag	8	10	11	12	2	1	0	1	0	0	0	3	1	2	1	2	3	3	4	2	3	3	4			TCGA-CV-6936-01A-11D-1912-08	TCGA-CV-6936-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4bdd75-d967-40b2-b55d-99e59cc7e125	31d97fa4-4f9b-4753-99ea-73b8cd1e4efc	g.chrY:21877710G>A	ENST00000541639.1	-	17	2592	c.2306_splice	c.e17+1	p.R769_splice	KDM5D_ENST00000317961.4_Splice_Site_p.R738_splice|KDM5D_ENST00000382806.2_Splice_Site_p.R681_splice	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	738					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CATGCTCACCGGAGGTACTGT	0.552													67	9					0	0	0	0	A	21877710	G	A	21877710	5	1	251	1	0	0	0	0	0	0	1	0	8188	1130	39	1	2455	1	KDM5D	24	21877710	Splice_Site	SNP	G	TCGA-CV-6936-01A-11D-1912-08		21877710	37495856	314	45272											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854334	12854334	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgctgtagtaagctggtCaattatctaacgccgattaa	11	13	9	8	2	2	0	1	0	1	0	2	1	2	0	1	1	3	4	1	1	6	5			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:12854334C>G	ENST00000332296.7	+	3	661	c.558C>G	c.(556-558)gtC>gtG	p.V186V		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	186										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTAAGCTGGTCAATTATCTAA	0.423													10	635					0	0	0	0	G	12854334	C	G	12854334	2	3	252	1	0	0	0	0	0	0	0	1	12501	813	29	2		2	PRAMEF1	1	12854334	Silent	SNP	C	TCGA-CV-6937-01A-11D-2012-08		12854334	236396287	1	45273											
TFAP2E	339488	broad.mit.edu	37	chr1	36054125	36054125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcccgagtgcctcaacGcctccctcctggggggtgtc	3	8	12	18	3	1	0	1	0	0	0	5	1	4	0	6	3	2	0	6	3	1	0			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:36054125G>A	ENST00000373235.3	+	4	965	c.757G>A	c.(757-759)Gcc>Acc	p.A253T		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	253						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GTGCCTCAACGCCTCCCTCCT	0.647													24	65					0	0	0	0	A	36054125	G	A	36054125	3	1	252	1	0	0	0	0	1	0	0	0	15885	1087	38	1	771	1	TFAP2E	1	36054125	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	23199791	36054125	213196496	2	45274											
ZMYND12	84217	broad.mit.edu	37	chr1	42905661	42905664	+	Frame_Shift_Del	DEL	ATAG	ATAG	-																															gactgtccactgggcttggaAtagatattcttcagcctgaa																										TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:42905661_42905664delATAG	ENST00000372565.3	-	4	726_729	c.457_460delCTAT	c.(457-462)tcfs	p.LF153fs	ZMYND12_ENST00000433602.2_Frame_Shift_Del_p.LF43fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	153						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGCTTGGAATAGATATTCTTCA	0.426													31	127	---	---	---	---					-	42905664	ATAG	-	42905661	7	5	252	1	0	1	0	1	0	0	0	0	17802	101	4	0	657	0	ZMYND12	1	42905661	Frame_Shift_Del	DEL	ATAG	TCGA-CV-6937-01A-11D-2012-08	6851536	42905661	206344960	3	45275											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76878016	76878016	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaaaaagacagttggtatCtatccgaatgcccaaatata	16	11	7	7	1	1	2	0	1	1	1	2	3	2	2	2	1	1	2	2	1	8	6			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:76878016C>G	ENST00000328299.3	+	3	685	c.537C>G	c.(535-537)atC>atG	p.I179M	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	179					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CAGTTGGTATCTATCCGAATG	0.423													8	61					0	0	0	0	G	76878016	C	G	76878016	3	3	252	1	0	0	0	0	1	0	0	0	15315	903	32	2	547	2	ST6GALNAC3	1	76878016	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	33972355	76878016	172372605	4	45276											
PIGK	10026	broad.mit.edu	37	chr1	77558068	77558068	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcatcaagtctaaaaaatGaacttcatatgcttaattcc	16	13	3	9	0	4	1	3	1	1	0	5	1	5	1	1	0	2	1	1	0	7	5			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:77558068G>A	ENST00000370812.3	-	11	1202	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	PIGK_ENST00000445065.1_Silent_p.F299F|PIGK_ENST00000370813.5_Silent_p.F317F	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	393					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TCTAAAAAATGAACTTCATAT	0.328													9	51					0	0	0	0	A	77558068	G	A	77558068	2	1	252	1	0	0	0	0	0	0	0	1	11962	1281	45	2		2	PIGK	1	77558068	Silent	SNP	G	TCGA-CV-6937-01A-11D-2012-08	680052	77558068	171692553	5	45277											
SPAG17	200162	broad.mit.edu	37	chr1	118640375	118640375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcaacatcaaagagatttGtttcaggtttctcattattc	12	15	7	7	0	3	1	3	0	1	1	5	3	3	1	0	1	2	3	0	1	3	5			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:118640375G>T	ENST00000336338.5	-	7	994	c.929C>A	c.(928-930)aCa>aAa	p.T310K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	310						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAAGAGATTTGTTTCAGGTTT	0.378													326	47					2.44235e-143	1.64818e-142	1	0	T	118640375	G	T	118640375	3	4	252	1	0	0	0	0	1	0	0	0	15069	1377	48	4	5910	4	SPAG17	1	118640375	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	41082307	118640375	130610246	6	45278											
NOTCH2	4853	broad.mit.edu	37	chr1	120458562	120458562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacatctcattgtactgggtCtcattcacctccatgcggtt	8	14	7	12	1	3	0	3	0	2	0	6	0	4	0	2	2	3	2	2	2	2	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:120458562C>G	ENST00000256646.2	-	34	7002	c.6783G>C	c.(6781-6783)gaG>gaC	p.E2261D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2261					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		TGTACTGGGTCTCATTCACCT	0.557			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				71	250					0	0	0	0	G	120458562	C	G	120458562	3	3	252	1	0	0	0	0	1	0	0	0	10618	912	32	2	636	2	NOTCH2	1	120458562	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	1818187	120458562	128792059	7	45279											
S100A10	6281	broad.mit.edu	37	chr1	151955750	151955750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactttgccatctctacaCtggtccaggtccttcattat	7	14	5	15	0	2	0	1	0	1	0	5	0	4	0	4	2	2	0	4	2	2	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:151955750C>A	ENST00000368811.3	-	3	842	c.183G>T	c.(181-183)caG>caT	p.Q61H	S100A10_ENST00000478574.1_5'UTR|S100A10_ENST00000368809.1_Missense_Mutation_p.Q61H	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	61	Ancestral calcium site.				signal transduction		calcium ion binding|receptor binding			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CATCTCTACACTGGTCCAGGT	0.423													26	124					3.28513e-13	2.15971e-12	1	0	A	151955750	C	A	151955750	3	1	252	1	0	0	0	0	1	0	0	0	13857	564	20	4	114	4	S100A10	1	151955750	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	31497188	151955750	97294871	8	45280											
TCHH	7062	broad.mit.edu	37	chr1	152081918	152081918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgggattgtctgtcgcGcagctgggaatcttccaact	6	13	12	10	2	2	0	0	0	2	0	4	2	3	2	1	2	3	3	1	2	2	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:152081918G>A	ENST00000368804.1	-	2	3774	c.3775C>T	c.(3775-3777)Cgc>Tgc	p.R1259C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1259					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGTCGCGCAGCTGGGAA	0.537													29	93					0	0	0	0	A	152081918	G	A	152081918	3	1	252	1	0	0	0	0	1	0	0	0	15794	1087	38	1	2060	1	TCHH	1	152081918	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	126168	152081918	97168703	9	45281											
FCRL3	115352	broad.mit.edu	37	chr1	157666098	157666098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggccggatctctagattCacattagacacagggactcc	10	9	11	11	1	2	2	1	0	1	2	4	4	3	4	2	3	0	0	2	3	2	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:157666098C>T	ENST00000368184.3	-	7	1155	c.864G>A	c.(862-864)gtG>gtA	p.V288V	FCRL3_ENST00000368186.5_Silent_p.V288V|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	288	Ig-like C2-type 4.					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)					TCTCTAGATTCACATTAGACA	0.522													14	97					0	0	0	0	T	157666098	C	T	157666098	2	4	252	1	0	0	0	0	0	0	0	1	5841	813	29	2		2	FCRL3	1	157666098	Silent	SNP	C	TCGA-CV-6937-01A-11D-2012-08	5584180	157666098	91584523	10	45282											
PIGM	93183	broad.mit.edu	37	chr1	160001164	160001164	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacagtagccacaagcctgGcggcgccccagccccttcag	9	4	10	18	2	1	0	1	0	0	0	1	0	1	0	6	2	3	1	6	2	2	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:160001164G>A	ENST00000368090.2	-	1	619	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	122					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAAGCCTGGCGGCGCCCCA	0.577													12	64					0	0	0	0	A	160001164	G	A	160001164	2	1	252	1	0	0	0	0	0	0	0	1	11964	1190	42	4		4	PIGM	1	160001164	Silent	SNP	G	TCGA-CV-6937-01A-11D-2012-08	2335066	160001164	89249457	11	45283											
DDR2	4921	broad.mit.edu	37	chr1	162737067	162737067	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactcggatcctgattggctGcttggtggccatcatcttta	6	14	10	11	1	2	1	1	1	1	0	4	2	3	2	2	4	1	2	2	4	1	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:162737067G>C	ENST00000367922.2	+	12	1649	c.1211G>C	c.(1210-1212)tGc>tCc	p.C404S	DDR2_ENST00000367921.3_Missense_Mutation_p.C404S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	404					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTGATTGGCTGCTTGGTGGCC	0.483													30	165					0	0	0	0	C	162737067	G	C	162737067	3	2	252	1	0	0	0	0	1	0	0	0	4369	1319	46	4	1245	4	DDR2	1	162737067	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	2735903	162737067	86513554	12	45284											
DUSP27	92235	broad.mit.edu	37	chr1	167088617	167088617	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagtacctgggtgtagAggtggatgactttcctgagg	8	11	15	7	0	0	3	0	2	0	1	2	5	2	4	3	4	1	2	3	4	2	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:167088617A>G	ENST00000361200.2	+	5	735	c.569A>G	c.(568-570)gAg>gGg	p.E190G	DUSP27_ENST00000271385.5_Missense_Mutation_p.E190G|DUSP27_ENST00000443333.1_Missense_Mutation_p.E190G			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	190					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CTGGGTGTAGAGGTGGATGAC	0.557													15	47					0	0	0	0	G	167088617	A	G	167088617	3	3	252	1	0	0	0	0	1	0	0	0	4860	304	11	5	583	5	DUSP27	1	167088617	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	4351550	167088617	82162004	13	45285											
DCAF6	55827	broad.mit.edu	37	chr1	167971802	167971802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaaggccggagagtgaacGagaacgagatggtaactata	16	5	14	6	3	0	4	0	1	0	3	0	7	0	4	1	3	4	2	1	3	6	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:167971802G>A	ENST00000367840.3	+	8	1080	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	DCAF6_ENST00000312263.6_Missense_Mutation_p.R329Q|DCAF6_ENST00000367843.3_Missense_Mutation_p.R329Q|DCAF6_ENST00000432587.2_Missense_Mutation_p.R298Q	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	329					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAGAGTGAACGAGAACGAGAT	0.373													12	84					0	0	0	0	A	167971802	G	A	167971802	3	1	252	1	0	0	0	0	1	0	0	0	4307	1058	37	1	1016	1	DCAF6	1	167971802	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	883185	167971802	81278819	14	45286											
TIPRL	261726	broad.mit.edu	37	chr1	168153231	168153231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggtctggctttggaattGagttcaatgctacagatgcg	9	13	13	6	1	2	2	1	1	1	1	2	3	2	3	0	3	3	3	0	3	3	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:168153231G>A	ENST00000367833.2	+	2	341	c.196G>A	c.(196-198)Gag>Aag	p.E66K	TIPRL_ENST00000367830.3_Missense_Mutation_p.E66K	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	66					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					CTTTGGAATTGAGTTCAATGC	0.428													17	72					0	0	0	0	A	168153231	G	A	168153231	3	1	252	1	0	0	0	0	1	0	0	0	16020	1291	45	2	202	2	TIPRL	1	168153231	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	181429	168153231	81097390	15	45287											
TNN	63923	broad.mit.edu	37	chr1	175053061	175053072	+	Splice_Site	DEL	TGACATCACTGG	TGACATCACTGG	-																															agtgaccccaagagccgataTgacatcactggtaagagcca																										TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:175053061_175053072delTGACATCACTGG	ENST00000239462.4	+	5	1337_1347	c.1234_splice	c.e5+1	p.*408_splice		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	408	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAGCCGATATGACATCACTGGTAAGAGCCAT	0.542													7	60	---	---	---	---					-	175053072	TGACATCACTGG	-	175053061	8	5	252	1	0	1	0	1	0	0	1	0	16417	1471	51	0	1238	0	TNN	1	175053061	Splice_Site	DEL	TGACATCACTGG	TCGA-CV-6937-01A-11D-2012-08	6899830	175053061	74197560	16	45288											
ASTN1	460	broad.mit.edu	37	chr1	177000057	177000057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataatattatctttatacttGttcatcagtgacagcttggc	11	17	6	7	0	3	1	2	1	1	0	3	1	3	1	0	1	2	2	0	1	5	9			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:177000057G>T	ENST00000367654.2	-	4	910	c.897C>A	c.(895-897)aaC>aaA	p.N299K	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.N299K|ASTN1_ENST00000424564.2_Missense_Mutation_p.N299K|ASTN1_ENST00000367657.3_Missense_Mutation_p.N299K			O14525	ASTN1_HUMAN	astrotactin 1	299					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						CTTTATACTTGTTCATCAGTG	0.443													9	67					7.48243e-07	4.82569e-06	1	0	T	177000057	G	T	177000057	3	4	252	1	0	0	0	0	1	0	0	0	1068	1368	48	4	3071	4	ASTN1	1	177000057	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	1946996	177000057	72250564	17	45289											
CFHR4	10877	broad.mit.edu	37	chr1	196882040	196882040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaatggatggtcagcacaaCcaatttgcattagtaagtga	16	10	9	6	0	1	1	1	1	0	0	1	2	1	2	1	2	3	3	1	2	6	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:196882040C>A	ENST00000367416.2	+	7	1302	c.1165C>A	c.(1165-1167)Cca>Aca	p.P389T	CFHR4_ENST00000367418.1_Missense_Mutation_p.P143T|CFHR4_ENST00000251424.4_Missense_Mutation_p.P143T|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GTCAGCACAACCAATTTGCAT	0.313													42	75					5.85753e-14	3.87586e-13	1	0	A	196882040	C	A	196882040	3	1	252	1	0	0	0	0	1	0	0	0	3316	507	18	4	437	4	CFHR4	1	196882040	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	19881983	196882040	52368581	18	45290											
KIF21B	23046	broad.mit.edu	37	chr1	200944711	200944711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggatgtctccctggatggcGagacactcgatgccatcgta	9	9	12	11	3	1	1	0	0	1	1	4	5	1	3	2	3	1	1	2	3	1	1	rs150393728		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:200944711G>A	ENST00000332129.2	-	32	4807	c.4491C>T	c.(4489-4491)ctC>ctT	p.L1497L	KIF21B_ENST00000422435.2_Silent_p.L1510L|KIF21B_ENST00000360529.5_Silent_p.L1497L|KIF21B_ENST00000461742.2_Silent_p.L1510L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1510					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTGGATGGCGAGACACTCGA	0.607													9	77					0	0	0	0	A	200944711	G	A	200944711	2	1	252	1	0	0	0	0	0	0	0	1	8340	1045	37	1		1	KIF21B	1	200944711	Silent	SNP	G	TCGA-CV-6937-01A-11D-2012-08	4062671	200944711	48305910	19	45291											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209949072	209949072	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caactccacgtgcttcagtcCaaactgcaggtaccaggcac	11	7	8	15	1	1	0	1	0	0	0	3	0	3	0	3	2	5	4	3	2	3	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:209949072C>A	ENST00000367024.1	+	11	1560	c.1044C>A	c.(1042-1044)tcC>tcA	p.S348S	TRAF3IP3_ENST00000367026.3_Silent_p.S328S|TRAF3IP3_ENST00000010338.4_Silent_p.S328S|TRAF3IP3_ENST00000367025.3_Silent_p.S348S|TRAF3IP3_ENST00000477431.1_Silent_p.S84S|TRAF3IP3_ENST00000400959.3_Silent_p.S328S|TRAF3IP3_ENST00000367023.1_Silent_p.S84S			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	348						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TGCTTCAGTCCAAACTGCAGG	0.582													8	40					0.000157383	0.000966106	1	0	A	209949072	C	A	209949072	2	1	252	1	0	0	0	0	0	0	0	1	16537	581	21	4		4	TRAF3IP3	1	209949072	Silent	SNP	C	TCGA-CV-6937-01A-11D-2012-08	9004361	209949072	39301549	20	45292											
TMEM206	55248	broad.mit.edu	37	chr1	212553337	212553337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggaagaccagctcccGctttttcacttcccggggcc	6	9	11	15	2	1	1	1	0	0	1	3	3	3	3	4	4	1	2	4	4	1	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:212553337G>A	ENST00000261455.4	-	5	675	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	TMEM206_ENST00000535273.1_Missense_Mutation_p.R241W	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	180						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		ACCAGCTCCCGCTTTTTCACT	0.537													34	72					0	0	0	0	A	212553337	G	A	212553337	3	1	252	1	0	0	0	0	1	0	0	0	16225	1086	38	1	530	1	TMEM206	1	212553337	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	2604265	212553337	36697284	21	45293											
ESRRG	2104	broad.mit.edu	37	chr1	216737606	216737606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaccaccaactctcggtCggccaagtcacacagtgtag	12	7	9	13	2	2	0	1	0	1	0	4	1	2	0	3	2	2	1	3	2	4	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:216737606C>A	ENST00000391890.3	-	7	1286	c.769G>T	c.(769-771)Gac>Tac	p.D257Y	ESRRG_ENST00000361395.2_Missense_Mutation_p.D250Y|ESRRG_ENST00000408911.3_Missense_Mutation_p.D273Y|ESRRG_ENST00000487276.1_Missense_Mutation_p.D250Y|ESRRG_ENST00000463665.1_Missense_Mutation_p.D211Y|ESRRG_ENST00000493748.1_Missense_Mutation_p.D250Y|ESRRG_ENST00000366937.1_Missense_Mutation_p.D285Y|ESRRG_ENST00000360012.3_Missense_Mutation_p.D250Y|ESRRG_ENST00000359162.2_Missense_Mutation_p.D250Y|ESRRG_ENST00000366940.2_Missense_Mutation_p.D250Y|ESRRG_ENST00000366938.2_Missense_Mutation_p.D250Y|ESRRG_ENST00000361525.3_Missense_Mutation_p.D250Y|ESRRG_ENST00000493603.1_Missense_Mutation_p.D250Y	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	273					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.D273N(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AACTCTCGGTCGGCCAAGTCA	0.458													17	85					5.3912e-06	3.45512e-05	1	0	A	216737606	C	A	216737606	3	1	252	1	0	0	0	0	1	0	0	0	5300	884	31	3	571	3	ESRRG	1	216737606	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	4184269	216737606	32513015	22	45294											
TPO	7173	broad.mit.edu	37	chr2	1459959	1459959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacatcgaccacgacatcGcgttcacaccacagagcacc	14	5	6	16	4	1	1	1	0	0	1	3	3	1	1	3	0	2	2	3	0	2	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:1459959G>A	ENST00000345913.4	+	7	815	c.724G>A	c.(724-726)Gcg>Acg	p.A242T	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.A242T|TPO_ENST00000382201.3_Missense_Mutation_p.A242T|TPO_ENST00000349624.3_Missense_Mutation_p.A242T|TPO_ENST00000346956.3_Missense_Mutation_p.A242T|TPO_ENST00000337415.3_Missense_Mutation_p.A242T|TPO_ENST00000329066.4_Missense_Mutation_p.A242T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	242					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCACGACATCGCGTTCACACC	0.498													7	58					0	0	0	0	A	1459959	G	A	1459959	3	1	252	1	0	0	0	0	1	0	0	0	16505	1087	38	1	746	1	TPO	2	1459959	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08		1459959	241739414	23	45295											
PXDN	7837	broad.mit.edu	37	chr2	1648500	1648500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgagcgccggaaacaggtcGatgttgagtgtcgagccata	11	7	14	9	5	0	1	0	1	0	0	2	5	0	2	2	2	3	1	2	2	2	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:1648500G>A	ENST00000252804.4	-	18	3683	c.3633C>T	c.(3631-3633)atC>atT	p.I1211I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1211					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.I1211I(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GAAACAGGTCGATGTTGAGTG	0.498													10	32					0	0	0	0	A	1648500	G	A	1648500	2	1	252	1	0	0	0	0	0	0	0	1	12929	1048	37	1		1	PXDN	2	1648500	Silent	SNP	G	TCGA-CV-6937-01A-11D-2012-08	188541	1648500	241550873	24	45296											
LRRTM1	347730	broad.mit.edu	37	chr2	80530510	80530510	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgcctgcagcttgttgtaCgagaggtccacgctgcgcag	7	8	14	12	4	0	1	0	0	0	1	1	2	1	1	2	1	5	6	2	1	1	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:80530510C>T	ENST00000295057.3	-	2	1091	c.435G>A	c.(433-435)tcG>tcA	p.S145S	LRRTM1_ENST00000409148.1_Silent_p.S145S|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	145						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCTTGTTGTACGAGAGGTCCA	0.632										HNSCC(69;0.2)			13	90					0	0	0	0	T	80530510	C	T	80530510	2	4	252	1	0	0	0	0	0	0	0	1	9103	523	19	1		1	LRRTM1	2	80530510	Silent	SNP	C	TCGA-CV-6937-01A-11D-2012-08	78882010	80530510	162668863	25	45297											
EIF5B	9669	broad.mit.edu	37	chr2	99980764	99980764	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagaaaaaagagaaaggAaaaagcaaaaagaaaaagaa	31	0	8	2	0	0	4	0	0	0	4	0	6	0	5	0	1	2	1	0	1	13	0			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:99980764A>C	ENST00000289371.5	+	6	1370	c.1168A>C	c.(1168-1170)Aaa>Caa	p.K390Q		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	390					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						aagagaaaggaaaaagcaaaa	0.328													11	104					0	0	0	0	C	99980764	A	C	99980764	3	2	252	1	0	0	0	0	1	0	0	0	5082	247	9	5	1190	5	EIF5B	2	99980764	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	19450254	99980764	143218609	26	45298											
CCDC74A	90557	broad.mit.edu	37	chr2	132290462	132290462	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcaagtccctcctggAagggagccagaggccccagg	9	4	13	15	0	1	1	1	0	0	1	3	3	3	3	6	4	1	1	6	4	2	0			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:132290462A>G	ENST00000295171.6	+	6	1040	c.902A>G	c.(901-903)gAa>gGa	p.E301G	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.E235G	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	301										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCCCTCCTGGAAGGGAGCCAG	0.692													13	56					0	0	0	0	G	132290462	A	G	132290462	3	3	252	1	0	0	0	0	1	0	0	0	2874	246	9	5	924	5	CCDC74A	2	132290462	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	32309698	132290462	110908911	27	45299											
LRP1B	53353	broad.mit.edu	37	chr2	141260621	141260621	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgccattgagtatttagaAgacaccgcccatcagcacaa	14	8	7	12	1	1	3	1	1	0	2	1	3	1	3	3	0	2	2	3	0	4	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:141260621A>G	ENST00000389484.3	-	54	9544	c.8573T>C	c.(8572-8574)cTt>cCt	p.L2858P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2858	LDL-receptor class A 19.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTATTTAGAAGACACCGCCC	0.388										TSP Lung(27;0.18)			19	71					0	0	0	0	G	141260621	A	G	141260621	3	3	252	1	0	0	0	0	1	0	0	0	9019	72	3	5	5378	5	LRP1B	2	141260621	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	8970159	141260621	101938752	28	45300											
UPP2	151531	broad.mit.edu	37	chr2	158991382	158991382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaacttcatcagacggCggcttggactttgtgactag	8	12	10	11	2	3	2	2	1	1	1	4	3	3	3	1	3	1	1	1	3	2	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:158991382C>T	ENST00000605860.1	+	10	1151	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Missense_Mutation_p.R369W|UPP2_ENST00000005756.4_Missense_Mutation_p.R312W			O95045	UPP2_HUMAN	uridine phosphorylase 2	312					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						CATCAGACGGCGGCTTGGACT	0.493													8	90					0	0	0	0	T	158991382	C	T	158991382	3	4	252	1	0	0	0	0	1	0	0	0	17109	759	27	1	1139	1	UPP2	2	158991382	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	17730761	158991382	84207991	29	45301											
B3GALT1	8708	broad.mit.edu	37	chr2	168725997	168725997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactttattgactcctacCataaccttaccctcaaaaca	14	11	3	13	0	1	1	1	1	0	0	2	2	2	2	4	1	4	0	4	1	6	6			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:168725997C>A	ENST00000305861.1	+	2	799	c.448C>A	c.(448-450)Cat>Aat	p.H150N	B3GALT1_ENST00000392690.2_Missense_Mutation_p.H150N|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	150					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGACTCCTACCATAACCTTAC	0.428													9	51					0.000274275	0.00166361	1	0	A	168725997	C	A	168725997	3	1	252	1	0	0	0	0	1	0	0	0	1251	594	21	4	450	4	B3GALT1	2	168725997	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	9734615	168725997	74473376	30	45302											
TTN	7273	broad.mit.edu	37	chr2	179620992	179620992	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgttgtcctctctccacaGtcattgtgtacaatgcagct	8	13	8	12	1	2	0	1	0	1	0	5	1	4	0	2	0	3	4	2	0	2	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:179620992G>C	ENST00000589042.1	-	46	11435	c.11211C>G	c.(11209-11211)gaC>gaG	p.D3737E	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.D3566E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3421							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)			TCTCTCCACAGTCATTGTGTA	0.388													32	111					0	0	0	0	C	179620992	G	C	179620992	3	2	252	1	0	0	0	0	1	0	0	0	16831	1020	36	4	100045	4	TTN	2	179620992	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	10894995	179620992	63578381	31	45303											
CCDC108	255101	broad.mit.edu	37	chr2	219895483	219895485	+	In_Frame_Del	DEL	CTT	CTT	-																															acagagccaaagtacaacagCttctggaagccctcggcatc																										TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:219895483_219895485delCTT	ENST00000341552.5	-	9	1170_1172	c.1087_1089delAAG	c.(1087-1089)del	p.K363del	CCDC108_ENST00000453220.1_In_Frame_Del_p.K363del|CCDC108_ENST00000441968.1_In_Frame_Del_p.K363del|CCDC108_ENST00000410037.1_In_Frame_Del_p.K298del|CCDC108_ENST00000409865.3_In_Frame_Del_p.K352del	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	363						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTACAACAGCTTCTGGAAGCCC	0.64													12	59	---	---	---	---					-	219895485	CTT	-	219895483	7	5	252	1	0	1	0	1	0	0	0	0	2768	796	28	0	4796	0	CCDC108	2	219895483	In_Frame_Del	DEL	CTT	TCGA-CV-6937-01A-11D-2012-08	40274491	219895483	23303890	32	45304											
SH3BP4	23677	broad.mit.edu	37	chr2	235950011	235950011	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttttgacgcaggtacaTcctccttcaccgaatccagc	8	12	6	15	2	1	1	1	1	0	0	5	2	5	1	5	1	2	2	5	1	2	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:235950011T>A	ENST00000409212.1	+	4	1105	c.598T>A	c.(598-600)Tcc>Acc	p.S200T	SH3BP4_ENST00000344528.4_Missense_Mutation_p.S200T|SH3BP4_ENST00000392011.2_Missense_Mutation_p.S200T			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	200					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CGCAGGTACATCCTCCTTCAC	0.537													31	88					0	0	0	0	A	235950011	T	A	235950011	3	1	252	1	0	0	0	0	1	0	0	0	14333	1435	50	5	604	5	SH3BP4	2	235950011	Missense_Mutation	SNP	T	TCGA-CV-6937-01A-11D-2012-08	16054528	235950011	7249362	33	45305											
ANO7	50636	broad.mit.edu	37	chr2	242162677	242162677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccatccgcctggccttcGtcattgtgtttgaggtagcc	4	14	11	12	2	1	1	1	1	0	0	3	1	2	1	5	2	2	2	5	2	1	5			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:242162677G>A	ENST00000274979.8	+	22	2663	c.2560G>A	c.(2560-2562)Gtc>Atc	p.V854I	ANO7_ENST00000402430.3_Missense_Mutation_p.V853I	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	854						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCTGGCCTTCGTCATTGTGTT	0.567													44	134					0	0	0	0	A	242162677	G	A	242162677	3	1	252	1	0	0	0	0	1	0	0	0	701	1145	40	1	2718	1	ANO7	2	242162677	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	6212666	242162677	1036696	34	45306											
TRANK1	9881	broad.mit.edu	37	chr3	36897578	36897578	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccttggtggacttggaaAgctcaatgaaattcctttgt	9	14	11	7	0	1	1	1	1	0	0	2	3	2	3	2	4	1	1	2	4	3	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:36897578A>G	ENST00000429976.2	-	12	3750	c.3503T>C	c.(3502-3504)cTt>cCt	p.L1168P	TRANK1_ENST00000301807.6_Missense_Mutation_p.L618P|TRANK1_ENST00000428977.2_Missense_Mutation_p.L618P			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1168					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGACTTGGAAAGCTCAATGAA	0.483													37	115					0	0	0	0	G	36897578	A	G	36897578	3	3	252	1	0	0	0	0	1	0	0	0	16549	72	3	5	5322	5	TRANK1	3	36897578	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08		36897578	161124852	35	45307											
MST1	4485	broad.mit.edu	37	chr3	49721591	49721591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggacccagcagttgtggGtaaagcaggcaagtgggccc	10	5	15	11	0	0	0	0	0	0	0	0	1	0	1	3	4	2	5	3	4	3	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:49721591G>A	ENST00000449682.2	-	18	2409	c.2048C>T	c.(2047-2049)aCc>aTc	p.T683I		NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	669	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGTTGTGGGTAAAGCAGGC	0.562													8	36					0	0	0	0	A	49721591	G	A	49721591	3	1	252	1	0	0	0	0	1	0	0	0	9960	1261	44	4	133	4	MST1	3	49721591	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	12824013	49721591	148300839	36	45308											
EPHA3	2042	broad.mit.edu	37	chr3	89521703	89521703	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatggtgtctggacagcacActgcaaggaaatcttcacgg	12	9	11	9	1	3	0	1	0	2	0	3	2	3	2	0	4	2	2	0	4	3	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:89521703A>T	ENST00000336596.2	+	16	3005	c.2780A>T	c.(2779-2781)cAc>cTc	p.H927L	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	927	SAM.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGACAGCACACTGCAAGGAA	0.428										TSP Lung(6;0.00050)			16	149					0	0	0	0	T	89521703	A	T	89521703	3	4	252	1	0	0	0	0	1	0	0	0	5206	159	6	5	2868	5	EPHA3	3	89521703	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	39800112	89521703	108500727	37	45309											
BOC	91653	broad.mit.edu	37	chr3	112991529	112991529	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccggggcagcggtcatcCtctacaatgtccaggtgttt	7	10	12	12	2	2	0	1	0	1	0	4	0	4	0	3	4	3	2	3	4	2	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:112991529C>G	ENST00000495514.1	+	7	1644	c.940C>G	c.(940-942)Ctc>Gtc	p.L314V	BOC_ENST00000273395.4_Missense_Mutation_p.L314V|BOC_ENST00000355385.3_Missense_Mutation_p.L314V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	314	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGCGGTCATCCTCTACAATGT	0.582													7	41					0	0	0	0	G	112991529	C	G	112991529	3	3	252	1	0	0	0	0	1	0	0	0	1486	681	24	4	958	4	BOC	3	112991529	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	23469826	112991529	85030901	38	45310											
GOLGB1	2804	broad.mit.edu	37	chr3	121409852	121409852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttcagaaagaagagcatCtctctctctgtttaagagtc	11	13	9	8	0	4	4	1	0	3	4	7	4	4	4	0	1	1	3	0	1	3	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:121409852C>T	ENST00000393667.3	-	14	8469	c.8359G>A	c.(8359-8361)Gat>Aat	p.D2787N	GOLGB1_ENST00000340645.5_Missense_Mutation_p.D2782N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2782					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGAAGAGCATCTCTCTCTCTG	0.418													7	76					0	0	0	0	T	121409852	C	T	121409852	3	4	252	1	0	0	0	0	1	0	0	0	6613	913	32	2	1471	2	GOLGB1	3	121409852	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	8418323	121409852	76612578	39	45311											
CEP63	80254	broad.mit.edu	37	chr3	134278043	134278043	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaagactgagcactacaaAacagatcttcattctccaag	17	9	5	10	0	3	3	1	1	2	2	4	3	3	3	1	0	3	1	1	0	6	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:134278043A>C	ENST00000337090.3	+	14	1898	c.1725A>C	c.(1723-1725)aaA>aaC	p.K575N	CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.K575N|CEP63_ENST00000606977.1_Missense_Mutation_p.K575N|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000354446.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	575					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCACTACAAAACAGATCTTC	0.443													53	168					0	0	0	0	C	134278043	A	C	134278043	3	2	252	1	0	0	0	0	1	0	0	0	3286	11	1	5	1775	5	CEP63	3	134278043	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	12868191	134278043	63744387	40	45312											
ATR	545	broad.mit.edu	37	chr3	142180856	142180856	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattcaataatcccacatTcatcatttagtggaataact	14	13	3	11	0	3	0	3	0	0	0	4	1	4	1	2	1	1	0	2	1	5	6			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:142180856T>A	ENST00000350721.4	-	42	7239	c.7118A>T	c.(7117-7119)gAa>gTa	p.E2373V	ATR_ENST00000383101.3_Missense_Mutation_p.E2309V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2373	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATCCCACATTCATCATTTAG	0.313								Other conserved DNA damage response genes					47	189					0	0	0	0	A	142180856	T	A	142180856	3	1	252	1	0	0	0	0	1	0	0	0	1208	1783	62	5	840	5	ATR	3	142180856	Missense_Mutation	SNP	T	TCGA-CV-6937-01A-11D-2012-08	7902813	142180856	55841574	41	45313											
LRRC15	131578	broad.mit.edu	37	chr3	194080176	194080176	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccgctctgggcctgggTcatgccccaaacgctgcggt	5	7	13	16	3	2	0	1	0	1	0	2	0	2	0	4	3	4	2	4	3	1	0			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:194080176T>C	ENST00000347624.3	-	2	1682	c.1597A>G	c.(1597-1599)Acc>Gcc	p.T533A	LRRC15_ENST00000439944.2_Missense_Mutation_p.T539A|LRRC15_ENST00000428839.1_Missense_Mutation_p.T539A	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	533						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGGGCCTGGGTCATGCCCCAA	0.587													5	113					0	0	0	0	C	194080176	T	C	194080176	3	2	252	1	0	0	0	0	1	0	0	0	9034	1667	58	5	152	5	LRRC15	3	194080176	Missense_Mutation	SNP	T	TCGA-CV-6937-01A-11D-2012-08	51899320	194080176	3942254	42	45314											
MFI2	4241	broad.mit.edu	37	chr3	196753556	196753556	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtacacttcgcccaccacCggcttcaggccgtgctcctt	5	10	8	18	4	1	0	1	0	0	0	4	0	2	0	5	2	2	3	5	2	1	4	rs138189044		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:196753556C>T	ENST00000296350.5	-	3	392	c.279G>A	c.(277-279)ccG>ccA	p.P93P	MFI2_ENST00000296351.4_Silent_p.P93P	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	93	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CGCCCACCACCGGCTTCAGGC	0.617													9	124					0	0	0	0	T	196753556	C	T	196753556	2	4	252	1	0	0	0	0	0	0	0	1	9591	639	23	1		1	MFI2	3	196753556	Silent	SNP	C	TCGA-CV-6937-01A-11D-2012-08	2673380	196753556	1268874	43	45315											
IDUA	3425	broad.mit.edu	37	chr4	996204	996204	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcttccaggtcaacaacAcccgcccgccgcacgtgcag	8	4	10	19	6	1	0	1	0	0	0	2	0	2	0	4	1	3	3	4	1	2	1			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:996204A>C	ENST00000453894.1	+	5	1274	c.1186A>C	c.(1186-1188)Acc>Ccc	p.T396P	IDUA_ENST00000514224.1_Missense_Mutation_p.T242P|IDUA_ENST00000247933.4_Missense_Mutation_p.T374P			P35475	IDUA_HUMAN	iduronidase, alpha-L-	374			L -> LALL (in MPS1H).		disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	GGTCAACAACACCCGCCCGCC	0.711													4	5					0	0	0	0	C	996204	A	C	996204	3	2	252	1	0	0	0	0	1	0	0	0	7557	159	6	5	1150	5	IDUA	4	996204	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08		996204	190158072	44	45316											
RFC1	5981	broad.mit.edu	37	chr4	39308288	39308288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgctgctttaaaactagagCcatcatctttgccggaaaat	13	11	7	10	2	2	1	1	0	1	1	2	2	2	2	2	1	4	2	2	1	5	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:39308288C>A	ENST00000381897.1	-	14	2055	c.1922G>T	c.(1921-1923)gGc>gTc	p.G641V	RFC1_ENST00000349703.2_Missense_Mutation_p.G640V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	641				G -> N (in Ref. 2, 3 and 4).	DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.G641>?(1)|p.G641V(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAAACTAGAGCCATCATCTTT	0.473													5	47					3.59834e-05	0.000224951	1	0	A	39308288	C	A	39308288	3	1	252	1	0	0	0	0	1	0	0	0	13326	739	26	4	1572	4	RFC1	4	39308288	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	38312084	39308288	151845988	45	45317											
UGT2B4	7363	broad.mit.edu	37	chr4	70346487	70346487	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagagtggtactggaaccaGgtgaggtcgtgggctgcaac	11	7	16	7	1	0	2	0	1	0	1	1	3	0	3	1	5	4	3	1	5	4	1			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:70346487G>A	ENST00000305107.6	-	6	1498	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000381096.3_Silent_p.T348T	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	484					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACTGGAACCAGGTGAGGTCGT	0.498													35	169					0	0	0	0	A	70346487	G	A	70346487	2	1	252	1	0	0	0	0	0	0	0	1	17057	987	35	4		4	UGT2B4	4	70346487	Silent	SNP	G	TCGA-CV-6937-01A-11D-2012-08	31038199	70346487	120807789	46	45318											
C4orf17	84103	broad.mit.edu	37	chr4	100451030	100451030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcatgctctactcctggctCctgttcttcagggatgacaa	7	12	10	12	0	3	1	1	1	2	0	5	2	5	2	2	3	2	4	2	3	2	3	rs145411536	byFrequency	TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:100451030C>T	ENST00000514652.1	+	5	815	c.461C>T	c.(460-462)tCc>tTc	p.S154F	C4orf17_ENST00000326581.4_Missense_Mutation_p.S154F|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	154										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ACTCCTGGCTCCTGTTCTTCA	0.378													15	41					0	0	0	0	T	100451030	C	T	100451030	3	4	252	1	0	0	0	0	1	0	0	0	2273	855	30	2	475	2	C4orf17	4	100451030	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	30104543	100451030	90703246	47	45319											
ANK2	287	broad.mit.edu	37	chr4	114257135	114257135	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcccagaaggaggtgtactGagcagcacagtggtgcccca	10	5	15	11	0	0	2	0	1	0	1	0	3	0	3	3	4	4	3	3	4	2	1			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:114257135G>A	ENST00000357077.4	+	30	3566	c.3513G>A	c.(3511-3513)ctG>ctA	p.L1171L	ANK2_ENST00000264366.6_Silent_p.L1138L|ANK2_ENST00000509550.1_Silent_p.L347L|ANK2_ENST00000506722.1_Silent_p.L1162L|ANK2_ENST00000394537.3_Silent_p.L1171L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1138					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGGTGTACTGAGCAGCACAG	0.567													11	90					0	0	0	0	A	114257135	G	A	114257135	2	1	252	1	0	0	0	0	0	0	0	1	621	1277	45	2		2	ANK2	4	114257135	Silent	SNP	G	TCGA-CV-6937-01A-11D-2012-08	13806105	114257135	76897141	48	45320											
PCDH18	54510	broad.mit.edu	37	chr4	138451748	138451748	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatggtgtatgtcacttGcccattttctccaagatcag	10	13	8	10	0	3	2	2	0	1	2	4	2	3	2	2	1	1	1	2	1	3	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:138451748G>T	ENST00000344876.4	-	1	1881	c.1495C>A	c.(1495-1497)Caa>Aaa	p.Q499K	PCDH18_ENST00000412923.2_Missense_Mutation_p.Q499K|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.Q279K	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	499	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TATGTCACTTGCCCATTTTCT	0.408													17	135					1.02788e-11	6.71419e-11	1	0	T	138451748	G	T	138451748	3	4	252	1	0	0	0	0	1	0	0	0	11584	1328	46	4	1928	4	PCDH18	4	138451748	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	24194613	138451748	52702528	49	45321											
CDH10	1008	broad.mit.edu	37	chr5	24505329	24505329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaatgttaaagattctgtCaaggtcagtatggcgatcca	13	12	10	6	1	3	2	2	1	1	1	4	3	4	2	1	2	0	2	1	2	5	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:24505329C>T	ENST00000264463.4	-	8	1792	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	429	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAGATTCTGTCAAGGTCAGTA	0.368										HNSCC(23;0.051)			4	44					0	0	0	0	T	24505329	C	T	24505329	3	4	252	1	0	0	0	0	1	0	0	0	3125	826	29	2	1101	2	CDH10	5	24505329	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08		24505329	156409931	50	45322											
AMACR	23600	broad.mit.edu	37	chr5	33998863	33998863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atccaacatgttctgtcctcGaggtgcttcccacagactca	9	11	7	14	1	2	1	1	0	1	1	6	2	5	1	3	1	2	2	3	1	1	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:33998863G>C	ENST00000335606.6	-	4	710	c.622C>G	c.(622-624)Cga>Gga	p.R208G	AMACR_ENST00000502637.1_Missense_Mutation_p.R193G|AMACR_ENST00000382072.2_Missense_Mutation_p.S154W|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000441713.2_Missense_Mutation_p.S154W|AMACR_ENST00000382085.3_Missense_Mutation_p.R208G	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	208					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TTCTGTCCTCGAGGTGCTTCC	0.433													6	120					0	0	0	0	C	33998863	G	C	33998863	3	2	252	1	0	0	0	0	1	0	0	0	562	1068	37	3	864	3	AMACR	5	33998863	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	9493534	33998863	146916397	51	45323											
MRPS30	10884	broad.mit.edu	37	chr5	44809264	44809264	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggatcgagcgctggcAggcgacggtgcacgctgcgg	5	4	20	12	8	0	0	0	0	0	0	1	3	0	1	0	6	3	4	0	6	0	0			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:44809264A>T	ENST00000507110.1	+	1	238	c.200A>T	c.(199-201)cAg>cTg	p.Q67L		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	67					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					GAGCGCTGGCAGGCGACGGTG	0.637													12	34					0	0	0	0	T	44809264	A	T	44809264	3	4	252	1	0	0	0	0	1	0	0	0	9910	188	7	5	202	5	MRPS30	5	44809264	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	10810401	44809264	136105996	52	45324											
ACTBL2	345651	broad.mit.edu	37	chr5	56777772	56777772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcagggcatcggaagcGttcattcccaatggtgatca	9	10	12	10	2	3	1	3	1	0	0	5	2	4	2	1	4	1	3	1	4	2	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:56777772G>A	ENST00000423391.1	-	1	864	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	255						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CATCGGAAGCGTTCATTCCCA	0.532													9	51					0	0	0	0	A	56777772	G	A	56777772	3	1	252	1	0	0	0	0	1	0	0	0	194	1145	40	1	371	1	ACTBL2	5	56777772	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	11968508	56777772	124137488	53	45325											
HTR1A	3350	broad.mit.edu	37	chr5	63256301	63256301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcggcagaacttacactTaatgatcttcttaaacgcgt	11	12	8	10	3	2	2	0	1	2	1	2	2	2	2	0	2	3	1	0	2	5	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:63256301T>C	ENST00000323865.3	-	1	1479	c.1246A>G	c.(1246-1248)Aag>Gag	p.K416E	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	416					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AACTTACACTTAATGATCTTC	0.498													31	247					0	0	0	0	C	63256301	T	C	63256301	3	2	252	1	0	0	0	0	1	0	0	0	7489	1763	61	5	25	5	HTR1A	5	63256301	Missense_Mutation	SNP	T	TCGA-CV-6937-01A-11D-2012-08	6478529	63256301	117658959	54	45326											
LYSMD3	116068	broad.mit.edu	37	chr5	89821073	89821073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttgactgaactcctggaaGaggaaaactacgattctgat	14	10	9	8	1	1	4	0	3	1	1	2	7	2	6	1	2	3	0	1	2	5	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:89821073G>A	ENST00000315948.6	-	2	178	c.34C>T	c.(34-36)Ctt>Ttt	p.L12F	LYSMD3_ENST00000500869.2_Missense_Mutation_p.L12F|LYSMD3_ENST00000509384.1_Missense_Mutation_p.L12F	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	12					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		ACTCCTGGAAGAGGAAAACTA	0.403													4	48					0	0	0	0	A	89821073	G	A	89821073	3	1	252	1	0	0	0	0	1	0	0	0	9191	942	33	2	894	2	LYSMD3	5	89821073	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	26564772	89821073	91094187	55	45327											
GIN1	54826	broad.mit.edu	37	chr5	102442428	102442428	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataagccatacccactgttTgacatcattggtcacagatg	12	11	7	11	0	2	2	2	1	0	1	2	2	2	2	2	1	2	1	2	1	2	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:102442428T>G	ENST00000399004.2	-	3	419	c.325A>C	c.(325-327)Aaa>Caa	p.K109Q	GIN1_ENST00000508629.1_Missense_Mutation_p.K109Q	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	109					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		ACCCACTGTTTGACATCATTG	0.353													4	27					0	0	0	0	G	102442428	T	G	102442428	3	3	252	1	0	0	0	0	1	0	0	0	6437	1821	63	5	1267	5	GIN1	5	102442428	Missense_Mutation	SNP	T	TCGA-CV-6937-01A-11D-2012-08	12621355	102442428	78472832	56	45328											
PJA2	9867	broad.mit.edu	37	chr5	108714181	108714181	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttctttgtttcgcctcaTgcctattaaaacctgtttct	7	18	4	12	1	3	0	1	0	2	0	4	0	3	0	3	0	2	2	3	0	3	6			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:108714181T>C	ENST00000361189.2	-	4	1246	c.1007A>G	c.(1006-1008)cAt>cGt	p.H336R	PJA2_ENST00000361557.3_Missense_Mutation_p.H336R	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	336					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TTTCGCCTCATGCCTATTAAA	0.408													49	208					0	0	0	0	C	108714181	T	C	108714181	3	2	252	1	0	0	0	0	1	0	0	0	12034	1464	51	5	1147	5	PJA2	5	108714181	Missense_Mutation	SNP	T	TCGA-CV-6937-01A-11D-2012-08	6271753	108714181	72201079	57	45329											
KCNN2	3781	broad.mit.edu	37	chr5	113740539	113740539	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ataattgccgcatggactgtCcgagcttgtgaaaggtaagt	11	11	12	7	2	0	1	0	1	0	0	1	3	1	2	2	2	2	3	2	2	3	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:113740539C>T	ENST00000512097.3	+	4	2005	c.987C>T	c.(985-987)gtC>gtT	p.V329V	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Silent_p.V329V			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	329						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CATGGACTGTCCGAGCTTGTG	0.348													26	174					0	0	0	0	T	113740539	C	T	113740539	2	4	252	1	0	0	0	0	0	0	0	1	8132	842	30	2		2	KCNN2	5	113740539	Silent	SNP	C	TCGA-CV-6937-01A-11D-2012-08	5026358	113740539	67174721	58	45330											
PCDHA13	56136	broad.mit.edu	37	chr5	140263296	140263296	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacggtgtctgctcaggaCgcggacgcacaggagaacgc	9	6	14	12	5	3	1	2	0	1	1	3	4	3	3	0	4	2	2	0	4	1	1			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:140263296C>T	ENST00000289272.2	+	1	1443	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.D481D|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCAGGACGCGGACGCAC	0.662													34	137					0	0	0	0	T	140263296	C	T	140263296	2	4	252	1	0	0	0	0	0	0	0	1	11594	535	19	1		1	PCDHA13	5	140263296	Silent	SNP	C	TCGA-CV-6937-01A-11D-2012-08	26522757	140263296	40651964	59	45331											
PCDHA13	56136	broad.mit.edu	37	chr5	140263844	140263844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgctgacggccacggcaaCggtgctgttgtcgctggtgg	4	8	17	12	6	0	1	0	1	0	0	1	1	0	1	1	5	2	5	1	5	1	1			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:140263844C>T	ENST00000289272.2	+	1	1991	c.1991C>T	c.(1990-1992)aCg>aTg	p.T664M	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.T664M|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACGGCAACGGTGCTGTTG	0.687													26	111					0	0	0	0	T	140263844	C	T	140263844	3	4	252	1	0	0	0	0	1	0	0	0	11594	536	19	1	1993	1	PCDHA13	5	140263844	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	548	140263844	40651416	60	45332											
RBM27	54439	broad.mit.edu	37	chr5	145609363	145609363	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaattgtaccgtgagaagtAtgactggagaagaggcagga	14	8	15	4	1	0	5	0	3	0	3	0	8	0	6	1	3	1	3	1	3	5	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:145609363A>G	ENST00000265271.5	+	5	645	c.479A>G	c.(478-480)tAt>tGt	p.Y160C	RBM27_ENST00000506502.1_Missense_Mutation_p.Y160C	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	160	Arg-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTGAGAAGTATGACTGGAGA	0.478													71	104					0	0	0	0	G	145609363	A	G	145609363	3	3	252	1	0	0	0	0	1	0	0	0	13209	449	16	5	497	5	RBM27	5	145609363	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	5345519	145609363	35305897	61	45333											
EBF1	1879	broad.mit.edu	37	chr5	158140094	158140094	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggccgggagttggttgTggttgcggggaacactgtac	7	9	18	7	2	0	0	0	0	0	0	0	2	0	2	1	6	3	4	1	6	3	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:158140094T>A	ENST00000313708.6	-	13	1535	c.1253A>T	c.(1252-1254)cAc>cTc	p.H418L	EBF1_ENST00000517373.1_Missense_Mutation_p.H410L|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.H387L	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	418					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGTTGGTTGTGGTTGCGGGG	0.562			T	HMGA2	lipoma								24	45					0	0	0	0	A	158140094	T	A	158140094	3	1	252	1	0	0	0	0	1	0	0	0	4916	1696	59	5	538	5	EBF1	5	158140094	Missense_Mutation	SNP	T	TCGA-CV-6937-01A-11D-2012-08	12530731	158140094	22775166	62	45334											
GABRA1	2554	broad.mit.edu	37	chr5	161324318	161324318	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgtcagcaaaattgacCgactgtcaagaatagccttc	14	9	8	10	1	2	2	2	1	0	1	3	3	2	2	2	0	2	1	2	0	5	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:161324318C>T	ENST00000428797.2	+	11	1616	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	GABRA1_ENST00000420560.1_Nonsense_Mutation_p.R421*|GABRA1_ENST00000437025.2_Nonsense_Mutation_p.R421*|GABRA1_ENST00000393943.4_Nonsense_Mutation_p.R421*|GABRA1_ENST00000444819.1_Nonsense_Mutation_p.R421*|GABRA1_ENST00000023897.6_Nonsense_Mutation_p.R421*	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	421					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CAAAATTGACCGACTGTCAAG	0.443													48	172					0	0	0	0	T	161324318	C	T	161324318	4	4	252	1	0	0	0	0	0	1	0	0	6208	644	23	1	1295	1	GABRA1	5	161324318	Nonsense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	3184224	161324318	19590942	63	45335											
HIST1H4E	8367	broad.mit.edu	37	chr6	26205156	26205156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctacgcgctgaagagacaggGacgcactctttacggcttcg	9	8	12	12	5	1	2	0	1	1	1	2	4	1	3	0	2	2	3	0	2	3	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:26205156G>A	ENST00000360441.4	+	1	299	c.284G>A	c.(283-285)gGa>gAa	p.G95E		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	95					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				AAGAGACAGGGACGCACTCTT	0.527													16	60					0	0	0	0	A	26205156	G	A	26205156	3	1	252	1	0	0	0	0	1	0	0	0	7219	1174	41	2	286	2	HIST1H4E	6	26205156	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08		26205156	144909911	64	45336											
HLA-A	3105	broad.mit.edu	37	chr6	29911172	29911172	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacgaggacctgcgctcttgGaccgcggcggacatggcggc	7	5	16	13	6	1	0	0	0	1	0	1	4	1	3	2	6	2	1	2	6	1	1			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:29911172G>A	ENST00000396634.1	+	5	812	c.471G>A	c.(469-471)tgG>tgA	p.W157*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.W157*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.W157*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.W157*			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	157	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGCGCTCTTGGACCGCGGCGG	0.672									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			9	32					0	0	0	0	A	29911172	G	A	29911172	4	1	252	1	0	0	0	0	0	1	0	0	7245	1183	41	2	481	2	HLA-A	6	29911172	Nonsense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	3706016	29911172	141203895	65	45337											
IP6K3	117283	broad.mit.edu	37	chr6	33703227	33703227	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcctgccctcatgtccccGgcgtctgcgctgttttgcac	3	11	10	17	4	2	0	1	0	1	0	3	0	3	0	4	1	3	3	4	1	0	2	rs150212654		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:33703227G>A	ENST00000451316.1	-	3	562	c.27C>T	c.(25-27)gcC>gcT	p.A9A	IP6K3_ENST00000293756.4_Silent_p.A9A	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	9					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						TCATGTCCCCGGCGTCTGCGC	0.617													6	42					0	0	0	0	A	33703227	G	A	33703227	2	1	252	1	0	0	0	0	0	0	0	1	7843	1103	39	1		1	IP6K3	6	33703227	Silent	SNP	G	TCGA-CV-6937-01A-11D-2012-08	3792055	33703227	137411840	66	45338											
DOPEY1	23033	broad.mit.edu	37	chr6	83835435	83835435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagaacaattcagtcaaaGagtgggaagacaaaaaggta	19	5	12	5	0	2	3	2	0	0	3	2	4	2	4	0	3	1	2	0	3	7	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:83835435G>A	ENST00000349129.2	+	15	1962	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	DOPEY1_ENST00000237163.5_Missense_Mutation_p.E549K|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E559K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	568					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTCAGTCAAAGAGTGGGAAGA	0.368													9	58					0	0	0	0	A	83835435	G	A	83835435	3	1	252	1	0	0	0	0	1	0	0	0	4743	943	33	2	1752	2	DOPEY1	6	83835435	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	50132208	83835435	87279632	67	45339											
REV3L	5980	broad.mit.edu	37	chr6	111697876	111697876	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgtagcagcatctttgTgaaagatggagggtttaact	12	13	11	5	0	1	2	0	1	1	1	1	3	1	3	0	2	3	4	0	2	4	5			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:111697876T>C	ENST00000435970.1	-	15	2264	c.1448A>G	c.(1447-1449)cAc>cGc	p.H483R	REV3L_ENST00000368805.1_Missense_Mutation_p.H561R|REV3L_ENST00000358835.3_Missense_Mutation_p.H561R|REV3L_ENST00000368802.3_Missense_Mutation_p.H561R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	561					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGCATCTTTGTGAAAGATGGA	0.393								DNA polymerases (catalytic subunits)					8	110					0	0	0	0	C	111697876	T	C	111697876	3	2	252	1	0	0	0	0	1	0	0	0	13322	1696	59	5	7790	5	REV3L	6	111697876	Missense_Mutation	SNP	T	TCGA-CV-6937-01A-11D-2012-08	27862441	111697876	59417191	68	45340											
KATNA1	11104	broad.mit.edu	37	chr6	149944272	149944272	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttattctgttctttcttTtcacgacaacgaacagcttt	8	18	4	11	2	4	0	1	0	3	0	4	2	4	0	1	0	3	2	1	0	3	8			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:149944272T>C	ENST00000367411.2	-	4	726	c.468A>G	c.(466-468)gaA>gaG	p.E156E	KATNA1_ENST00000335643.8_Silent_p.E156E|KATNA1_ENST00000335647.5_Silent_p.E156E	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	156	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GTTCTTTCTTTTCACGACAAC	0.343													8	55					0	0	0	0	C	149944272	T	C	149944272	2	2	252	1	0	0	0	0	0	0	0	1	8037	1838	64	5		5	KATNA1	6	149944272	Silent	SNP	T	TCGA-CV-6937-01A-11D-2012-08	38246396	149944272	21170795	69	45341											
MAP3K4	4216	broad.mit.edu	37	chr6	161530868	161530868	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacttcaggaacatgtgAttaggctgtattcaaagcag	12	11	12	6	0	2	1	2	1	0	0	2	3	2	3	0	3	2	3	0	3	4	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:161530868A>G	ENST00000392142.4	+	23	4466	c.4318A>G	c.(4318-4320)Att>Gtt	p.I1440V	MAP3K4_ENST00000366920.2_Missense_Mutation_p.I1436V|MAP3K4_ENST00000366919.2_Missense_Mutation_p.I1390V|MAP3K4_ENST00000348824.7_Missense_Mutation_p.I1386V	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1440	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGAACATGTGATTAGGCTGTA	0.488													25	88					0	0	0	0	G	161530868	A	G	161530868	3	3	252	1	0	0	0	0	1	0	0	0	9321	333	12	5	4408	5	MAP3K4	6	161530868	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	11586596	161530868	9584199	70	45342											
NOD1	10392	broad.mit.edu	37	chr7	30486644	30486644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgtacctggctccgacatCggtgatctggttgttgtata	7	13	12	9	3	1	1	0	1	1	0	3	3	2	1	2	3	1	5	2	3	3	5			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:30486644C>T	ENST00000222823.4	-	8	2833	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	770					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCTCCGACATCGGTGATCTGG	0.448													30	147					0	0	0	0	T	30486644	C	T	30486644	3	4	252	1	0	0	0	0	1	0	0	0	10586	884	31	1	581	1	NOD1	7	30486644	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08		30486644	128652019	71	45343											
ABCA13	154664	broad.mit.edu	37	chr7	48314127	48314127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccaaaaataataatttcaCctgaaataatgaaagctaca	21	9	3	8	0	1	2	1	2	0	0	1	2	1	2	2	0	2	1	2	0	8	5			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:48314127C>T	ENST00000435803.1	+	17	4888	c.4864C>T	c.(4864-4866)Cct>Tct	p.P1622S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1622					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						AATAATTTCACCTGAAATAAT	0.378													26	218					0	0	0	0	T	48314127	C	T	48314127	3	4	252	1	0	0	0	0	1	0	0	0	31	507	18	4	4759	4	ABCA13	7	48314127	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	17827483	48314127	110824536	72	45344											
EGFR	1956	broad.mit.edu	37	chr7	55242489	55242489	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaagagaagcaacatctccGaaagccaacaaggaaatcct	18	6	7	10	1	1	1	0	0	1	1	3	4	2	2	3	1	4	1	3	1	7	1	rs121913463		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:55242489G>A	ENST00000275493.2	+	19	2436	c.2259G>A	c.(2257-2259)ccG>ccA	p.P753P	EGFR_ENST00000454757.2_Silent_p.P700P|EGFR_ENST00000455089.1_Silent_p.P708P|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	753	Protein kinase.		Missing (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S752_I759del(13)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.T751_I759del(2)|p.A750_E758>P(2)|p.L747_K754del(2)|p.P753P(2)|p.E746_P753>IS(1)|p.L747_K754>ST(1)|p.A750_E758del(1)|p.T751_I759>REA(1)|p.A750_K754del(1)|p.T751_E758del(1)|p.L747_K754>N(1)|p.P753_I759del(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAACATCTCCGAAAGCCAACA	0.493		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			7	70					0	0	0	0	A	55242489	G	A	55242489	2	1	252	1	0	0	0	0	0	0	0	1	5003	1045	37	1		1	EGFR	7	55242489	Silent	SNP	G	TCGA-CV-6937-01A-11D-2012-08	6928362	55242489	103896174	73	45345											
ZNF679	168417	broad.mit.edu	37	chr7	63720697	63720697	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatatagagatgtgatgttAgagaactacagaaacctggt	15	12	10	4	0	0	4	0	1	0	3	0	6	0	4	1	1	3	1	1	1	7	5			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:63720697A>G	ENST00000421025.1	+	3	407	c.138A>G	c.(136-138)ttA>ttG	p.L46L	ZNF679_ENST00000255746.4_Silent_p.L46L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATGTGATGTTAGAGAACTACA	0.378													3	132					0	0	0	0	G	63720697	A	G	63720697	2	3	252	1	0	0	0	0	0	0	0	1	18181	417	15	5		5	ZNF679	7	63720697	Silent	SNP	A	TCGA-CV-6937-01A-11D-2012-08	8478208	63720697	95417966	74	45346											
CALN1	83698	broad.mit.edu	37	chr7	71252883	71252883	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctgttctgcttctgggaAtgcactggtggtgggagaag	6	13	16	6	0	3	1	0	0	3	1	3	3	3	2	0	4	2	3	0	4	2	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:71252883A>C	ENST00000395275.2	-	7	1051	c.663T>G	c.(661-663)caT>caG	p.H221Q	CALN1_ENST00000329008.5_Missense_Mutation_p.H179Q|CALN1_ENST00000431984.1_Missense_Mutation_p.H179Q|CALN1_ENST00000412588.1_Missense_Mutation_p.H221Q|CALN1_ENST00000395276.2_Missense_Mutation_p.H179Q|CALN1_ENST00000405452.2_Missense_Mutation_p.H179Q	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	179						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTTCTGGGAATGCACTGGTG	0.512													20	42					0	0	0	0	C	71252883	A	C	71252883	3	2	252	1	0	0	0	0	1	0	0	0	2616	98	4	5	126	5	CALN1	7	71252883	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	7532186	71252883	87885780	75	45347											
PPP1R9A	55607	broad.mit.edu	37	chr7	94750101	94750101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaagctgggaatattcGtcaagacagtaacagaaggt	16	9	11	5	1	1	3	1	1	0	2	2	4	1	4	0	2	2	2	0	2	7	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:94750101G>A	ENST00000289495.5	+	3	1822	c.1606G>A	c.(1606-1608)Gtc>Atc	p.V536I	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.V536I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.V536I|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.V536I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.V536I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.V536I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	536	PDZ.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GGGAATATTCGTCAAGACAGT	0.393										HNSCC(28;0.073)			35	98					0	0	0	0	A	94750101	G	A	94750101	3	1	252	1	0	0	0	0	1	0	0	0	12454	1145	40	1	1616	1	PPP1R9A	7	94750101	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	23497218	94750101	64388562	76	45348											
SLC12A9	56996	broad.mit.edu	37	chr7	100463759	100463759	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcttgggcatggtgccCgcttggcatagcgcccggct	5	9	13	14	3	1	0	0	0	1	0	1	0	1	0	3	4	2	4	3	4	1	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:100463759C>A	ENST00000354161.3	+	14	2402	c.2277C>A	c.(2275-2277)ccC>ccA	p.P759P		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	759						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCATGGTGCCCGCTTGGCATA	0.706													5	120					0.00116845	0.00696284	1	0	A	100463759	C	A	100463759	2	1	252	1	0	0	0	0	0	0	0	1	14478	639	23	3		3	SLC12A9	7	100463759	Silent	SNP	C	TCGA-CV-6937-01A-11D-2012-08	5713658	100463759	58674904	77	45349											
RELN	5649	broad.mit.edu	37	chr7	103183184	103183184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaaatgattacctagcaTgtgataaatccaggtctcgt	14	12	7	8	1	1	2	0	2	1	0	3	2	2	2	2	1	2	1	2	1	7	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:103183184T>C	ENST00000428762.1	-	43	6824	c.6665A>G	c.(6664-6666)cAt>cGt	p.H2222R	RELN_ENST00000343529.5_Missense_Mutation_p.H2222R|RELN_ENST00000424685.2_Missense_Mutation_p.H2222R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2222					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTACCTAGCATGTGATAAATC	0.378													8	58					0	0	0	0	C	103183184	T	C	103183184	3	2	252	1	0	0	0	0	1	0	0	0	13302	1464	51	5	3809	5	RELN	7	103183184	Missense_Mutation	SNP	T	TCGA-CV-6937-01A-11D-2012-08	2719425	103183184	55955479	78	45350											
RELN	5649	broad.mit.edu	37	chr7	103270583	103270583	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatctgaactgaattcCaaactgctttgcatcacctg	11	11	5	14	0	2	2	1	2	1	0	3	2	3	2	4	0	4	2	4	0	3	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:103270583C>A	ENST00000428762.1	-	20	2665	c.2506G>T	c.(2506-2508)Gga>Tga	p.G836*	RELN_ENST00000343529.5_Nonsense_Mutation_p.G836*|RELN_ENST00000424685.2_Nonsense_Mutation_p.G836*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	836					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTGAATTCCAAACTGCTTT	0.343													7	72					0.000157383	0.000966106	1	0	A	103270583	C	A	103270583	4	1	252	1	0	0	0	0	0	1	0	0	13302	603	21	4	8060	4	RELN	7	103270583	Nonsense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	87399	103270583	55868080	79	45351											
DNAJB9	4189	broad.mit.edu	37	chr7	108213733	108213733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatggatctagcaagcactGcaggactgtcactcaacgaa	13	8	9	11	1	4	0	3	0	1	0	4	3	4	2	0	2	4	3	0	2	4	1			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:108213733G>A	ENST00000249356.3	+	3	1154	c.608G>A	c.(607-609)tGc>tAc	p.C203Y	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	203					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						AGCAAGCACTGCAGGACTGTC	0.373													18	60					0	0	0	0	A	108213733	G	A	108213733	3	1	252	1	0	0	0	0	1	0	0	0	4663	1319	46	4	614	4	DNAJB9	7	108213733	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	4943150	108213733	50924930	80	45352											
TMEM168	64418	broad.mit.edu	37	chr7	112423785	112423786	+	Frame_Shift_Ins	INS	-	-	A																															gctcccaaaatcgctgttgcINSaagaagactaaagaacacca																										TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:112423785_112423786insA	ENST00000312814.5	-	2	1655_1656	c.1095_1096insT	c.(1093-1098)ctcaacfs	p.N366fs	TMEM168_ENST00000454074.1_Frame_Shift_Ins_p.N366fs	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	366						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATCGCTGTTGCAAGAAGACTAA	0.411													32	166	---	---	---	---					A	112423786	-	A	112423785	7	5	252	1	0	1	1	0	0	0	0	0	16177	710	25	0	1013	0	TMEM168	7	112423785	Frame_Shift_Ins	INS	-	TCGA-CV-6937-01A-11D-2012-08	4210052	112423785	46714878	81	45353											
CALU	813	broad.mit.edu	37	chr7	128394382	128394382	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtggatgagctcaaagactgGattaaatttgcacaaaagcg	15	9	11	6	1	1	2	1	1	0	1	1	4	1	4	0	2	3	2	0	2	5	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:128394382G>C	ENST00000535623.1	+	4	1255	c.312G>C	c.(310-312)tgG>tgC	p.W104C	CALU_ENST00000542996.2_Intron|CALU_ENST00000538546.1_Intron|CALU_ENST00000535011.2_Missense_Mutation_p.W96C|CALU_ENST00000479257.1_Missense_Mutation_p.W104C|CALU_ENST00000449187.2_Intron|CALU_ENST00000249364.4_Missense_Mutation_p.W96C	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN	calumenin	96	EF-hand 2.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						TCAAAGACTGGATTAAATTTG	0.453													12	43					0	0	0	0	C	128394382	G	C	128394382	3	2	252	1	0	0	0	0	1	0	0	0	2619	1183	41	2	294	2	CALU	7	128394382	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	15970597	128394382	30744281	82	45354											
TBXAS1	6916	broad.mit.edu	37	chr7	139575421	139575421	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggagctcagaaagctgtAtggacctctgtgtgggtaag	11	10	14	6	0	2	1	1	0	1	1	2	3	2	3	1	3	2	4	1	3	4	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:139575421A>G	ENST00000263552.6	+	7	762	c.224A>G	c.(223-225)tAt>tGt	p.Y75C	TBXAS1_ENST00000539806.1_Missense_Mutation_p.Y75C|TBXAS1_ENST00000458722.1_Missense_Mutation_p.Y74C|TBXAS1_ENST00000416849.2_Missense_Mutation_p.Y75C|TBXAS1_ENST00000436047.2_Missense_Mutation_p.Y75C|TBXAS1_ENST00000455353.1_Missense_Mutation_p.Y74C|TBXAS1_ENST00000336425.5_Missense_Mutation_p.Y74C|TBXAS1_ENST00000448866.1_Missense_Mutation_p.Y74C|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000414508.2_Missense_Mutation_p.Y75C|TBXAS1_ENST00000425687.1_Missense_Mutation_p.Y7C|TBXAS1_ENST00000411653.1_Missense_Mutation_p.Y74C	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	74					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					AGAAAGCTGTATGGACCTCTG	0.338													3	52					0	0	0	0	G	139575421	A	G	139575421	3	3	252	1	0	0	0	0	1	0	0	0	15758	449	16	5	234	5	TBXAS1	7	139575421	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	11181039	139575421	19563242	83	45355											
PRKDC	5591	broad.mit.edu	37	chr8	48794645	48794645	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtctaacatgccgttcAaaacggcactcacctgagac	11	9	8	13	2	4	1	2	1	2	1	4	2	4	1	2	2	3	2	2	2	3	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:48794645A>G	ENST00000314191.2	-	38	4843	c.4787T>C	c.(4786-4788)tTg>tCg	p.L1596S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L1596S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1597					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CATGCCGTTCAAAACGGCACT	0.393								Non-homologous end-joining					56	110					0	0	0	0	G	48794645	A	G	48794645	3	3	252	1	0	0	0	0	1	0	0	0	12601	131	5	5	7796	5	PRKDC	8	48794645	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08		48794645	97569377	84	45356											
RNF19A	25897	broad.mit.edu	37	chr8	101273978	101273978	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgcttctgctactgatgTtgtgtctaaatgcaaatatt	9	18	7	7	0	3	1	0	1	3	0	3	1	3	1	0	0	4	4	0	0	5	7			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:101273978T>C	ENST00000519449.1	-	9	1790	c.1474A>G	c.(1474-1476)Aca>Gca	p.T492A	RNF19A_ENST00000341084.2_Missense_Mutation_p.T492A|RNF19A_ENST00000523255.1_5'UTR	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	492					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GCTACTGATGTTGTGTCTAAA	0.403													110	72					0	0	0	0	C	101273978	T	C	101273978	3	2	252	1	0	0	0	0	1	0	0	0	13555	1725	60	5	1054	5	RNF19A	8	101273978	Missense_Mutation	SNP	T	TCGA-CV-6937-01A-11D-2012-08	52479333	101273978	45090044	85	45357											
PKHD1L1	93035	broad.mit.edu	37	chr8	110476615	110476615	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggttgagaggaatattatAtatgatattaagggaggagc	14	12	13	2	0	0	2	0	2	0	1	0	6	0	5	0	4	1	1	0	4	7	7			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:110476615A>G	ENST00000378402.5	+	49	7658	c.7554A>G	c.(7552-7554)atA>atG	p.I2518M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2518					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAATATTATATATGATATTA	0.363										HNSCC(38;0.096)			23	27					0	0	0	0	G	110476615	A	G	110476615	3	3	252	1	0	0	0	0	1	0	0	0	12044	439	16	5	7748	5	PKHD1L1	8	110476615	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	9202637	110476615	35887407	86	45358											
KCNQ3	3786	broad.mit.edu	37	chr8	133142023	133142023	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgactttgtcaatggtcAcctggtggaagctgtagggt	7	12	15	7	0	2	1	2	1	0	0	2	2	2	2	1	5	1	3	1	5	3	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:133142023A>C	ENST00000388996.4	-	15	2525	c.2105T>G	c.(2104-2106)gTg>gGg	p.V702G	KCNQ3_ENST00000519445.1_Missense_Mutation_p.V690G|KCNQ3_ENST00000521134.1_Missense_Mutation_p.V582G	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	702					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTCAATGGTCACCTGGTGGAA	0.532													8	148					0	0	0	0	C	133142023	A	C	133142023	3	2	252	1	0	0	0	0	1	0	0	0	8137	159	6	5	517	5	KCNQ3	8	133142023	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	22665408	133142023	13221999	87	45359											
TG	7038	broad.mit.edu	37	chr8	134030138	134030138	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctcatggaagcaagtggaCcagttccttggagttccata	11	10	10	10	0	1	0	1	0	0	0	3	3	3	3	4	3	1	3	4	3	3	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:134030138C>T	ENST00000220616.4	+	38	6718	c.6678C>T	c.(6676-6678)gaC>gaT	p.D2226D	TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Silent_p.D359D|TG_ENST00000542445.1_Silent_p.D596D|TG_ENST00000377869.1_Silent_p.D2169D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2226					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAAGTGGACCAGTTCCTTG	0.617													79	104					0	0	0	0	T	134030138	C	T	134030138	2	4	252	1	0	0	0	0	0	0	0	1	15907	506	18	4		4	TG	8	134030138	Silent	SNP	C	TCGA-CV-6937-01A-11D-2012-08	888115	134030138	12333884	88	45360											
GPR20	2843	broad.mit.edu	37	chr8	142367504	142367504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccggcggccagccacaCgaaggcgcacacggccctgg	8	1	15	17	5	0	0	0	0	0	0	0	1	0	0	4	6	1	2	4	6	1	0			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:142367504C>T	ENST00000377741.3	-	2	610	c.520G>A	c.(520-522)Gtg>Atg	p.V174M		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	174						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GCCAGCCACACGAAGGCGCAC	0.711													8	8					0	0	0	0	T	142367504	C	T	142367504	3	4	252	1	0	0	0	0	1	0	0	0	6729	536	19	1	560	1	GPR20	8	142367504	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	8337366	142367504	3996518	89	45361											
AGTPBP1	23287	broad.mit.edu	37	chr9	88207485	88207485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagttcttacctgtaaagttGaatacgtatatggatagtga	13	14	10	4	1	1	2	0	2	1	0	1	4	1	3	1	1	2	4	1	1	8	8			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr9:88207485G>A	ENST00000357081.3	-	19	2702	c.2558C>T	c.(2557-2559)tCa>tTa	p.S853L	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.S813L|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.S865L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	853					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTGTAAAGTTGAATACGTATA	0.274													15	63					0	0	0	0	A	88207485	G	A	88207485	3	1	252	1	0	0	0	0	1	0	0	0	400	1294	45	2	1154	2	AGTPBP1	9	88207485	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08		88207485	53005946	90	45362											
ALG2	85365	broad.mit.edu	37	chr9	101980621	101980621	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccattttcttcaattcCtgataatgttccacattctc	9	17	4	11	0	3	1	1	1	2	0	6	2	5	2	3	1	0	1	3	1	2	7			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr9:101980621C>T	ENST00000476832.1	-	2	907	c.846G>A	c.(844-846)caG>caA	p.Q282Q	ALG2_ENST00000319033.6_Silent_p.Q189Q	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	282					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TCTTCAATTCCTGATAATGTT	0.483													32	73					0	0	0	0	T	101980621	C	T	101980621	2	4	252	1	0	0	0	0	0	0	0	1	519	680	24	4		4	ALG2	9	101980621	Silent	SNP	C	TCGA-CV-6937-01A-11D-2012-08	13773136	101980621	39232810	91	45363											
DENND1A	57706	broad.mit.edu	37	chr9	126414316	126414316	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagtttgctgcaaatgatGagtatccggcgttcgtacag	9	12	12	8	3	0	3	0	3	0	0	2	3	1	3	1	1	3	6	1	1	3	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr9:126414316G>A	ENST00000373624.2	-	9	795	c.594C>T	c.(592-594)ctC>ctT	p.L198L	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373618.1_Silent_p.L166L|DENND1A_ENST00000394215.2_Silent_p.L168L|DENND1A_ENST00000542603.1_5'UTR|DENND1A_ENST00000373620.3_Silent_p.L198L|DENND1A_ENST00000394219.3_Silent_p.L166L	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	198	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGCAAATGATGAGTATCCGGC	0.388													9	35					0	0	0	0	A	126414316	G	A	126414316	2	1	252	1	0	0	0	0	0	0	0	1	4463	1277	45	2		2	DENND1A	9	126414316	Silent	SNP	G	TCGA-CV-6937-01A-11D-2012-08	24433695	126414316	14799115	92	45364											
FUBP3	8939	broad.mit.edu	37	chr9	133506175	133506175	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatagatgagaaagttggCgtacgtacagggtccttccc	10	10	11	10	2	1	2	1	1	0	2	3	3	3	2	2	2	2	3	2	2	4	5			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr9:133506175C>T	ENST00000319725.9	+	13	1353	c.1278_splice	c.e13+1	p.G426_splice		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	426					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGAAAGTTGGCGTACGTACAG	0.567													6	19					0	0	0	0	T	133506175	C	T	133506175	5	4	252	1	0	0	0	0	0	0	1	0	6141	782	27	1	1328	1	FUBP3	9	133506175	Splice_Site	SNP	C	TCGA-CV-6937-01A-11D-2012-08	7091859	133506175	7707256	93	45365											
TTC18	118491	broad.mit.edu	37	chr10	75104930	75104930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaacgtgaccttcagtaGattgccccctgagatctggg	8	10	10	13	1	2	3	1	2	1	2	3	4	3	3	4	1	2	1	4	1	2	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr10:75104930G>T	ENST00000310715.3	-	6	622	c.502C>A	c.(502-504)Cta>Ata	p.L168I	TTC18_ENST00000340329.3_Missense_Mutation_p.L168I|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.L168I|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.L168I	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	168							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ACCTTCAGTAGATTGCCCCCT	0.468													32	123					5.91797e-21	3.96737e-20	1	0	T	75104930	G	T	75104930	3	4	252	1	0	0	0	0	1	0	0	0	16781	933	33	2	2955	2	TTC18	10	75104930	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08		75104930	60429817	94	45366											
MYOZ1	58529	broad.mit.edu	37	chr10	75397509	75397509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttccagactcaccattgagCtgtcagagaaaacatcaggg	13	8	10	10	0	3	3	3	1	0	2	4	4	4	3	2	1	2	2	2	1	2	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr10:75397509C>T	ENST00000359322.4	-	3	609	c.245G>A	c.(244-246)aGc>aAc	p.S82N		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	82					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CACCATTGAGCTGTCAGAGAA	0.483													25	108					0	0	0	0	T	75397509	C	T	75397509	3	4	252	1	0	0	0	0	1	0	0	0	10165	797	28	4	670	4	MYOZ1	10	75397509	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	292579	75397509	60137238	95	45367											
CNNM1	26507	broad.mit.edu	37	chr10	101120712	101120712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacagcttctgctagccaCacaccgcttcatggccacag	10	7	7	17	1	2	0	1	0	1	0	2	0	2	0	4	1	3	3	4	1	1	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr10:101120712C>T	ENST00000356713.4	+	3	2127	c.1838C>T	c.(1837-1839)aCa>aTa	p.T613I	CNNM1_ENST00000370534.4_Missense_Mutation_p.T248I|CNNM1_ENST00000446890.1_Missense_Mutation_p.T542I|CNNM1_ENST00000370528.3_Missense_Mutation_p.T542I	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	613					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CTGCTAGCCACACACCGCTTC	0.537													16	57					0	0	0	0	T	101120712	C	T	101120712	3	4	252	1	0	0	0	0	1	0	0	0	3642	478	17	4	1848	4	CNNM1	10	101120712	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	25723203	101120712	34414035	96	45368											
GBF1	8729	broad.mit.edu	37	chr10	104122290	104122290	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctactatctcttgatgcccTattgacagtgattgacagca	10	13	7	11	0	1	4	0	4	1	0	2	4	1	4	2	0	3	1	2	0	3	6			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr10:104122290T>C	ENST00000369983.3	+	15	2002	c.1742T>C	c.(1741-1743)cTa>cCa	p.L581P		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	581					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)		CTTGATGCCCTATTGACAGTG	0.488													3	148					0	0	0	0	C	104122290	T	C	104122290	3	2	252	1	0	0	0	0	1	0	0	0	6320	1522	53	5	1796	5	GBF1	10	104122290	Missense_Mutation	SNP	T	TCGA-CV-6937-01A-11D-2012-08	3001578	104122290	31412457	97	45369											
OR52E2	119678	broad.mit.edu	37	chr11	5080740	5080740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgaagttccctatgagtgCgatcatgtacacagcacaga	13	9	10	9	1	1	3	1	2	0	1	2	4	2	3	1	0	3	3	1	0	3	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:5080740C>T	ENST00000321522.2	-	1	117	c.118G>A	c.(118-120)Gca>Aca	p.A40T		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTATGAGTGCGATCATGTAC	0.512													13	52					0	0	0	0	T	5080740	C	T	5080740	3	4	252	1	0	0	0	0	1	0	0	0	11186	768	27	1	862	1	OR52E2	11	5080740	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08		5080740	129925776	98	45370											
RBMXL2	27288	broad.mit.edu	37	chr11	7111302	7111302	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccggggctactcacccgaTgcctacagcggcggccgcga	7	5	13	16	6	1	0	1	0	0	0	1	2	1	0	4	4	5	1	4	4	3	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:7111302T>C	ENST00000306904.5	+	1	1138	c.951T>C	c.(949-951)gaT>gaC	p.D317D		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	317	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTCACCCGATGCCTACAGCG	0.687													7	27					0	0	0	0	C	7111302	T	C	7111302	2	2	252	1	0	0	0	0	0	0	0	1	13236	1461	51	5		5	RBMXL2	11	7111302	Silent	SNP	T	TCGA-CV-6937-01A-11D-2012-08	2030562	7111302	127895214	99	45371											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159705	18159705	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggagctgtcgggaagcaGattggagcagtgaggaagaa	12	6	17	6	1	0	3	0	1	0	2	1	7	0	7	1	4	3	3	1	4	3	1			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:18159705G>C	ENST00000396275.2	+	3	1317	c.956G>C	c.(955-957)aGa>aCa	p.R319T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	319				R -> K (in Ref. 2; AAL86878).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCGGGAAGCAGATTGGAGCAG	0.542													4	56					0	0	0	0	C	18159705	G	C	18159705	3	2	252	1	0	0	0	0	1	0	0	0	9838	942	33	2	958	2	MRGPRX3	11	18159705	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	11048403	18159705	116846811	100	45372											
SLC1A2	6506	broad.mit.edu	37	chr11	35308409	35308409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccatccatgttaatggttGctccaacaggaaggacgaat	13	10	9	9	1	0	0	0	0	0	0	2	3	2	2	3	3	3	3	3	3	5	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:35308409G>A	ENST00000278379.3	-	8	1463	c.1181C>T	c.(1180-1182)gCa>gTa	p.A394V	SLC1A2_ENST00000395750.1_Missense_Mutation_p.A385V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A385V|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A394V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	394					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GTTAATGGTTGCTCCAACAGG	0.468													24	190					0	0	0	0	A	35308409	G	A	35308409	3	1	252	1	0	0	0	0	1	0	0	0	14520	1319	46	4	559	4	SLC1A2	11	35308409	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	17148704	35308409	99698107	101	45373											
OR8J1	219477	broad.mit.edu	37	chr11	56128260	56128260	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatcaatcatttttactgtGataatgttcctctgttagca	11	18	5	7	0	3	1	2	1	1	0	4	1	4	1	1	0	2	3	1	0	5	7			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:56128260G>C	ENST00000303039.3	+	1	570	c.538G>C	c.(538-540)Gat>Cat	p.D180H		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTTTTACTGTGATAATGTTCC	0.343													21	62					0	0	0	0	C	56128260	G	C	56128260	3	2	252	1	0	0	0	0	1	0	0	0	11312	1290	45	2	540	2	OR8J1	11	56128260	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	20819851	56128260	78878256	102	45374											
OR5AR1	219493	broad.mit.edu	37	chr11	56431506	56431506	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgagtgctatgtcctGgcagccatggcctatggtcg	6	11	14	10	1	0	1	0	1	0	0	2	2	1	1	3	3	3	3	3	3	2	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:56431506G>C	ENST00000302969.2	+	1	369	c.345G>C	c.(343-345)ctG>ctC	p.L115L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCTATGTCCTGGCAGCCATGG	0.498													31	213					0	0	0	0	C	56431506	G	C	56431506	2	2	252	1	0	0	0	0	0	0	0	1	11216	1335	47	4		4	OR5AR1	11	56431506	Silent	SNP	G	TCGA-CV-6937-01A-11D-2012-08	303246	56431506	78575010	103	45375											
KCNA6	3742	broad.mit.edu	37	chr12	4919817	4919817	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagttccgtgtagatggtCgaggtggaaacaatggtggt	9	10	15	7	2	0	1	0	0	0	1	2	3	1	2	2	5	1	2	2	5	3	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:4919817C>T	ENST00000433855.1	+	1	1476	c.610C>T	c.(610-612)Cga>Tga	p.R204*	KCNA6_ENST00000280684.3_Nonsense_Mutation_p.R204*	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	204						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGTAGATGGTCGAGGTGGAAA	0.542										HNSCC(72;0.22)			11	60					0	0	0	0	T	4919817	C	T	4919817	4	4	252	1	0	0	0	0	0	1	0	0	8060	876	31	1	612	1	KCNA6	12	4919817	Nonsense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08		4919817	128932078	104	45376											
KCNA1	3736	broad.mit.edu	37	chr12	5020755	5020755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaccctaagaaacgcatgCgctacttcgaccccctgagg	11	6	9	15	3	0	2	0	1	0	1	1	3	0	2	3	1	4	3	3	1	4	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:5020755C>T	ENST00000382545.3	+	2	1318	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	71					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.R71C(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAACGCATGCGCTACTTCGA	0.632													27	105					0	0	0	0	T	5020755	C	T	5020755	3	4	252	1	0	0	0	0	1	0	0	0	8054	768	27	1	213	1	KCNA1	12	5020755	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	100938	5020755	128831140	105	45377											
USP5	8078	broad.mit.edu	37	chr12	6970649	6970649	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagcggcaagccgaagAggagaagatggcactgccag	15	2	16	8	2	0	4	0	0	0	4	0	7	0	4	2	3	3	2	2	3	5	0			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:6970649A>G	ENST00000229268.8	+	13	1593	c.1541A>G	c.(1540-1542)gAg>gGg	p.E514G	USP5_ENST00000389231.5_Missense_Mutation_p.E514G|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	514					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CAAGCCGAAGAGGAGAAGATG	0.597													20	94					0	0	0	0	G	6970649	A	G	6970649	3	3	252	1	0	0	0	0	1	0	0	0	17177	304	11	5	1591	5	USP5	12	6970649	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	1949894	6970649	126881246	106	45378											
OR8S1	341568	broad.mit.edu	37	chr12	48921776	48921776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaagagaccagccttcaccGaaggccgcagggagcccgga	11	2	15	13	3	1	1	1	0	0	1	1	6	1	4	5	4	2	1	5	4	2	1			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:48921776G>A	ENST00000310194.1	+	2	970	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGCCTTCACCGAAGGCCGCAG	0.647													18	27					0	0	0	0	A	48921776	G	A	48921776	3	1	252	1	0	0	0	0	1	0	0	0	11317	1059	37	1	976	1	OR8S1	12	48921776	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	41951127	48921776	84930119	107	45379											
USP15	9958	broad.mit.edu	37	chr12	62749159	62749159	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcatataccgcttataagaActatgattattcggaacctg	14	13	6	8	2	1	2	1	1	0	1	2	3	1	3	2	1	3	1	2	1	8	7			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:62749159A>G	ENST00000280377.5	+	8	876	c.818A>G	c.(817-819)aAc>aGc	p.N273S	USP15_ENST00000393654.3_Missense_Mutation_p.N248S|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.N244S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	273					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GCTTATAAGAACTATGATTAT	0.348													7	31					0	0	0	0	G	62749159	A	G	62749159	3	3	252	1	0	0	0	0	1	0	0	0	17142	43	2	5	757	5	USP15	12	62749159	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	13827383	62749159	71102736	108	45380											
EPYC	1833	broad.mit.edu	37	chr12	91366624	91366624	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgcaaagtcatttttgttGatctttttaattctgttaaa	10	21	5	5	0	3	1	1	1	2	0	3	1	3	1	0	0	1	3	0	0	4	9			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:91366624G>C	ENST00000261172.3	-	4	566	c.474C>G	c.(472-474)atC>atG	p.I158M		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	158					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CATTTTTGTTGATCTTTTTAA	0.388													6	110					0	0	0	0	C	91366624	G	C	91366624	3	2	252	1	0	0	0	0	1	0	0	0	5239	1280	45	2	510	2	EPYC	12	91366624	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	28617465	91366624	42485271	109	45381											
TRPV4	59341	broad.mit.edu	37	chr12	110246181	110246181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcagcagtggagcccCgggacacgatgtcaaagagg	11	4	15	11	2	2	1	2	0	0	1	2	4	2	3	3	4	2	1	3	4	1	0	rs139300843		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:110246181C>T	ENST00000418703.2	-	2	573	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	TRPV4_ENST00000541794.1_Missense_Mutation_p.R160Q|TRPV4_ENST00000537083.1_Missense_Mutation_p.R160Q|TRPV4_ENST00000536838.1_Missense_Mutation_p.R126Q|TRPV4_ENST00000346520.2_Missense_Mutation_p.R160Q|TRPV4_ENST00000261740.2_Missense_Mutation_p.R160Q|TRPV4_ENST00000392719.2_Missense_Mutation_p.R160Q|TRPV4_ENST00000544971.1_Missense_Mutation_p.R160Q	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	160					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGTGGAGCCCCGGGACACGAT	0.612													13	36					0	0	0	0	T	110246181	C	T	110246181	3	4	252	1	0	0	0	0	1	0	0	0	16693	652	23	1	2192	1	TRPV4	12	110246181	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	18879557	110246181	23605714	110	45382											
RPH3A	22895	broad.mit.edu	37	chr12	113307581	113307581	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgacagtgaagataggAggggcccgggtcagaagaca	13	4	17	7	1	1	5	1	2	0	3	1	6	1	6	1	5	0	0	1	5	3	1			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:113307581A>G	ENST00000389385.4	+	9	1125	c.628A>G	c.(628-630)Agg>Ggg	p.R210G	RPH3A_ENST00000551052.1_Missense_Mutation_p.R206G|RPH3A_ENST00000420983.2_Missense_Mutation_p.R210G|RPH3A_ENST00000548866.1_Missense_Mutation_p.R161G|RPH3A_ENST00000447659.2_Missense_Mutation_p.R161G|RPH3A_ENST00000543106.2_Missense_Mutation_p.R210G|RPH3A_ENST00000415485.3_Missense_Mutation_p.R210G|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	210	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGAAGATAGGAGGGGCCCGGG	0.463													3	139					0	0	0	0	G	113307581	A	G	113307581	3	3	252	1	0	0	0	0	1	0	0	0	13636	295	11	5	654	5	RPH3A	12	113307581	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	3061400	113307581	20544314	111	45383											
SPATA13	221178	broad.mit.edu	37	chr13	24823649	24823649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctggaggcgaagctcatCacaggatgaggaaaggacag	13	4	14	10	1	2	1	2	1	0	0	2	6	2	5	2	5	1	1	2	5	2	0			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr13:24823649C>T	ENST00000424834.2	+	5	2161	c.1688C>T	c.(1687-1689)tCa>tTa	p.S563L	SPATA13_ENST00000382108.3_Missense_Mutation_p.S563L|SPATA13_ENST00000382095.4_5'UTR			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	221	C-terminal tail.				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CGAAGCTCATCACAGGATGAG	0.552													8	8					0	0	0	0	T	24823649	C	T	24823649	3	4	252	1	0	0	0	0	1	0	0	0	15090	838	29	2	1694	2	SPATA13	13	24823649	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08		24823649	90346229	112	45384											
PCNX	22990	broad.mit.edu	37	chr14	71444809	71444809	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactatgtttgctttcgaggTgtttctggtaccaagccaca	8	14	10	9	1	1	0	0	0	1	0	2	2	1	0	2	2	3	4	2	2	3	5			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr14:71444809T>A	ENST00000304743.2	+	6	2201	c.1755T>A	c.(1753-1755)ggT>ggA	p.G585G	PCNX_ENST00000439984.3_Silent_p.G585G|PCNX_ENST00000238570.5_Silent_p.G585G	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	585						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GCTTTCGAGGTGTTTCTGGTA	0.483													15	99					0	0	0	0	A	71444809	T	A	71444809	2	1	252	1	0	0	0	0	0	0	0	1	11662	1683	59	5		5	PCNX	14	71444809	Silent	SNP	T	TCGA-CV-6937-01A-11D-2012-08		71444809	35904731	113	45385											
DCAF4	26094	broad.mit.edu	37	chr14	73422322	73422322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggatggaaggccacccGcctgtttcatgattcagcag	10	8	12	11	1	2	1	2	1	0	0	2	3	2	3	3	3	1	2	3	3	2	2	rs141315052	byFrequency	TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr14:73422322G>A	ENST00000553457.1	+	11	1087	c.797G>A	c.(796-798)cGc>cAc	p.R266H	DCAF4_ENST00000353777.3_Missense_Mutation_p.R196H|DCAF4_ENST00000555042.1_Missense_Mutation_p.R360H|DCAF4_ENST00000358377.2_Missense_Mutation_p.R366H|DCAF4_ENST00000394234.2_Missense_Mutation_p.R266H|DCAF4_ENST00000509153.1_Missense_Mutation_p.R306H			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	366			N -> S (in dbSNP:rs7155812).			CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						AAGGCCACCCGCCTGTTTCAT	0.517													42	238					0	0	0	0	A	73422322	G	A	73422322	3	1	252	1	0	0	0	0	1	0	0	0	4303	1087	38	1	1142	1	DCAF4	14	73422322	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	1977513	73422322	33927218	114	45386											
TMEM63C	57156	broad.mit.edu	37	chr14	77722968	77722968	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatgaacaaccagccggaaGagggagaagaagagagtggt	16	3	15	7	1	0	5	0	1	0	4	0	8	0	6	3	3	3	0	3	3	5	0			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr14:77722968G>C	ENST00000298351.4	+	24	2464	c.2320G>C	c.(2320-2322)Gag>Cag	p.E774Q		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	774						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCAGCCGGAAGAGGGAGAAGA	0.607													60	131					0	0	0	0	C	77722968	G	C	77722968	3	2	252	1	0	0	0	0	1	0	0	0	16286	943	33	2	2406	2	TMEM63C	14	77722968	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	4300646	77722968	29626572	115	45387											
BTBD7	55727	broad.mit.edu	37	chr14	93723663	93723663	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctttttacacctctttTgttcacactatgggcagtgc	6	16	7	12	1	3	0	1	0	2	0	3	0	3	0	2	1	2	2	2	1	2	7			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr14:93723663T>G	ENST00000334746.5	-	6	1793	c.1486A>C	c.(1486-1488)Aaa>Caa	p.K496Q	BTBD7_ENST00000554565.1_Missense_Mutation_p.K145Q|BTBD7_ENST00000393170.2_Missense_Mutation_p.K70Q	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	496										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACACCTCTTTTGTTCACACTA	0.408													8	83					0	0	0	0	G	93723663	T	G	93723663	3	3	252	1	0	0	0	0	1	0	0	0	1555	1821	63	5	1936	5	BTBD7	14	93723663	Missense_Mutation	SNP	T	TCGA-CV-6937-01A-11D-2012-08	16000695	93723663	13625877	116	45388											
DICER1	23405	broad.mit.edu	37	chr14	95571506	95571506	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcagtgaaggcgataaagTatgctggggagacaaacagc	15	5	15	6	1	0	2	0	1	0	1	0	4	0	2	0	4	3	3	0	4	5	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr14:95571506T>A	ENST00000526495.1	-	22	3462	c.3171A>T	c.(3169-3171)atA>atT	p.I1057I	DICER1_ENST00000343455.3_Silent_p.I1057I|DICER1_ENST00000393063.1_Silent_p.I1057I|DICER1_ENST00000541352.1_Silent_p.I1057I|DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000527414.1_Silent_p.I1057I			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1057					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGCGATAAAGTATGCTGGGGA	0.488			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				28	169					0	0	0	0	A	95571506	T	A	95571506	2	1	252	1	0	0	0	0	0	0	0	1	4558	1628	57	5		5	DICER1	14	95571506	Silent	SNP	T	TCGA-CV-6937-01A-11D-2012-08	1847843	95571506	11778034	117	45389											
MYEF2	50804	broad.mit.edu	37	chr15	48446066	48446066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgtccacccggaccaagtCccatcccaatgcctccaaga	10	6	7	18	1	0	1	0	0	0	1	4	2	4	2	7	1	1	1	7	1	3	0			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr15:48446066C>A	ENST00000324324.7	-	10	1289	c.1010G>T	c.(1009-1011)gGa>gTa	p.G337V	MYEF2_ENST00000267836.6_Missense_Mutation_p.G337V	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	337	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CGGACCAAGTCCCATCCCAAT	0.388													8	23					0.000274275	0.00166361	1	0	A	48446066	C	A	48446066	3	1	252	1	0	0	0	0	1	0	0	0	10094	855	30	2	824	2	MYEF2	15	48446066	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08		48446066	54085326	118	45390											
LAT	27040	broad.mit.edu	37	chr16	28997738	28997738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggggctcccaccggaCgccatcttcccggcgggatt	4	8	13	16	4	1	0	0	0	1	0	3	2	3	2	5	5	0	1	5	5	0	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr16:28997738C>T	ENST00000395456.2	+	5	603	c.281C>T	c.(280-282)aCg>aTg	p.T94M	LAT_ENST00000360872.5_Missense_Mutation_p.T94M|LAT_ENST00000354453.4_Intron|LAT_ENST00000566177.1_Missense_Mutation_p.T93M|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000564277.1_Missense_Mutation_p.T93M|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000454369.2_Missense_Mutation_p.T93M|LAT_ENST00000395461.3_Missense_Mutation_p.T130M	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	94					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				TCCCACCGGACGCCATCTTCC	0.627													22	89					0	0	0	0	T	28997738	C	T	28997738	3	4	252	1	0	0	0	0	1	0	0	0	8697	536	19	1	411	1	LAT	16	28997738	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08		28997738	61357015	119	45391											
CDH1	999	broad.mit.edu	37	chr16	68853324	68853324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctaatcatagctacagaCaatggtaagggggcctcatc	12	8	10	11	0	2	1	2	0	0	1	3	1	2	1	2	3	2	2	2	3	5	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr16:68853324C>A	ENST00000261769.5	+	11	1898	c.1707C>A	c.(1705-1707)gaC>gaA	p.D569E	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.D508E|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	569	Cadherin 4.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TAGCTACAGACAATGGTAAGG	0.522			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				11	32					5.50884e-06	3.48665e-05	1	0	A	68853324	C	A	68853324	3	1	252	1	0	0	0	0	1	0	0	0	3124	477	17	4	1749	4	CDH1	16	68853324	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	39855586	68853324	21501429	120	45392											
ADAD2	161931	broad.mit.edu	37	chr16	84229512	84229512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaagcctgtgtgctacGtggcgccctcgctctgtgac	5	10	13	13	3	1	2	0	2	1	0	2	2	1	2	2	1	4	3	2	1	2	1	rs142081193	byFrequency	TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr16:84229512G>C	ENST00000268624.3	+	8	1483	c.1390G>C	c.(1390-1392)Gtg>Ctg	p.V464L	RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.V382L|RP11-486L19.2_ENST00000536986.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	382	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGTGTGCTACGTGGCGCCCTC	0.716													5	32					0	0	0	0	C	84229512	G	C	84229512	3	2	252	1	0	0	0	0	1	0	0	0	232	1145	40	3	1420	3	ADAD2	16	84229512	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	15376188	84229512	6125241	121	45393											
GAS8	2622	broad.mit.edu	37	chr16	90103725	90103725	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaacaagcgcctggcagAccctctccagaaggctcggg	10	4	13	14	2	1	3	0	0	1	3	3	3	1	3	3	3	2	3	3	3	3	0			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr16:90103725A>C	ENST00000268699.4	+	7	964	c.842A>C	c.(841-843)gAc>gCc	p.D281A	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Missense_Mutation_p.D256A	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	281					negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		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;0.029)		CGCCTGGCAGACCCTCTCCAG	0.582													14	31					0	0	0	0	C	90103725	A	C	90103725	3	2	252	1	0	0	0	0	1	0	0	0	6300	275	10	5	868	5	GAS8	16	90103725	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	5874213	90103725	251028	122	45394											
TP53	7157	broad.mit.edu	37	chr17	7578232	7578232	+	Frame_Shift_Del	DEL	A	A	-																															gaaaagtgtttctgtcatccAaatactccacacgcaaattt																										TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr17:7578232delA	ENST00000420246.2	-	6	749	c.617delT	c.(616-618)tgfs	p.L206fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.L206fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L206fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L206fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.L206fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.L206fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	206	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in a sporadic cancer; somatic mutation).|L -> M (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L206*(7)|p.?(5)|p.L206fs*41(4)|p.?fs(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTCATCCAAATACTCCAC	0.547		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	35	---	---	---	---					-	7578232	A	-	7578232	7	5	252	1	0	1	0	1	0	0	0	0	16476	131	5	0	677	0	TP53	17	7578232	Frame_Shift_Del	DEL	A	TCGA-CV-6937-01A-11D-2012-08		7578232	73616978	123	45395											
PIK3R5	23533	broad.mit.edu	37	chr17	8793324	8793324	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccagctttttctcccacCgcctgcagcttggtcctgag	6	11	9	15	1	1	1	0	1	1	0	3	1	2	1	5	1	4	3	5	1	1	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr17:8793324C>T	ENST00000447110.1	-	8	901	c.777G>A	c.(775-777)gcG>gcA	p.A259A	PIK3R5_ENST00000584803.1_Silent_p.A259A|PIK3R5_ENST00000581552.1_Silent_p.A259A	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	259				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTTCTCCCACCGCCTGCAGCT	0.607													20	46					0	0	0	0	T	8793324	C	T	8793324	2	4	252	1	0	0	0	0	0	0	0	1	11994	639	23	1		1	PIK3R5	17	8793324	Silent	SNP	C	TCGA-CV-6937-01A-11D-2012-08	1215092	8793324	72401886	124	45396											
OSBPL1A	114876	broad.mit.edu	37	chr18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T																															ctttgtttttcctcaagtcgINSttttttttcttcactagctt																										TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aagactfs	p.T895fs	OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCCTCAAGTCGTTTTTTTTCTT	0.46													7	219	---	---	---	---					T	21745097	-	T	21745096	7	5	252	1	0	1	1	0	0	0	0	0	11348	1153	40	0	177	0	OSBPL1A	18	21745096	Frame_Shift_Ins	INS	-	TCGA-CV-6937-01A-11D-2012-08		21745096	56332152	125	45397											
MYO9B	4650	broad.mit.edu	37	chr19	17322582	17322582	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccgggcggggggcctcggaAggtcagtattaaggtagcgt	7	7	19	8	4	1	0	1	0	0	0	2	1	1	1	2	7	1	2	2	7	4	3			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:17322582A>T	ENST00000595618.1	+	39	6209	c.6057A>T	c.(6055-6057)gaA>gaT	p.E2019D	MYO9B_ENST00000397274.2_Missense_Mutation_p.E2019D|MYO9B_ENST00000594824.1_Splice_Site_p.E2019_splice	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	2019	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGGCCTCGGAAGGTCAGTATT	0.677													11	50					0	0	0	0	T	17322582	A	T	17322582	3	4	252	1	0	0	0	0	1	0	0	0	10155	86	3	5	6207	5	MYO9B	19	17322582	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08		17322582	41806401	126	45398											
ZNF675	171392	broad.mit.edu	37	chr19	23844924	23844924	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctcacttacctgggggtTcattcaccatctcatgtctc	7	15	6	13	0	5	0	4	0	3	0	8	0	5	0	2	2	1	1	2	2	1	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:23844924T>G	ENST00000359788.4	-	3	386	c.218A>C	c.(217-219)gAa>gCa	p.E73A	ZNF675_ENST00000600313.1_Missense_Mutation_p.E73A|ZNF675_ENST00000599168.1_Missense_Mutation_p.E73A|ZNF675_ENST00000596211.1_Missense_Mutation_p.E73A|ZNF675_ENST00000601935.1_Missense_Mutation_p.E73A|ZNF675_ENST00000601010.1_Missense_Mutation_p.E73A	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	73	KRAB.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACCTGGGGGTTCATTCACCAT	0.418													28	98					0	0	0	0	G	23844924	T	G	23844924	3	3	252	1	0	0	0	0	1	0	0	0	18177	1783	62	5	1496	5	ZNF675	19	23844924	Missense_Mutation	SNP	T	TCGA-CV-6937-01A-11D-2012-08	6522342	23844924	35284059	127	45399											
TMEM147	10430	broad.mit.edu	37	chr19	36037696	36037696	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctgggccactgctgaGcttattatgtcccggtgcgt	4	12	14	11	2	0	1	0	1	0	0	1	1	1	1	2	3	3	3	2	3	2	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:36037696G>A	ENST00000392204.2	+	3	511	c.183G>A	c.(181-183)gaG>gaA	p.E61E	TMEM147_ENST00000222284.5_Silent_p.E110E|TMEM147_ENST00000392205.1_Silent_p.E110E	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	110						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCACTGCTGAGCTTATTATGT	0.602													7	73					0	0	0	0	A	36037696	G	A	36037696	2	1	252	1	0	0	0	0	0	0	0	1	16155	962	34	4		4	TMEM147	19	36037696	Silent	SNP	G	TCGA-CV-6937-01A-11D-2012-08	12192772	36037696	23091287	128	45400											
APLP1	333	broad.mit.edu	37	chr19	36365411	36365411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacccgctccccagcacttCcagtccattctgcagactct	7	9	5	20	1	2	1	0	0	2	1	5	1	5	1	6	0	2	3	6	0	0	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:36365411C>A	ENST00000221891.4	+	9	1254	c.1062C>A	c.(1060-1062)ttC>ttA	p.F354L	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.F315L|APLP1_ENST00000586861.1_Missense_Mutation_p.F348L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	354					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCAGCACTTCCAGTCCATTC	0.617													52	129					3.50607e-19	2.33509e-18	1	0	A	36365411	C	A	36365411	3	1	252	1	0	0	0	0	1	0	0	0	780	854	30	2	1096	2	APLP1	19	36365411	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	327715	36365411	22763572	129	45401											
LTBP4	8425	broad.mit.edu	37	chr19	41129882	41129882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaccggcctgtgagggcGgccgctgtgtcaacactgtg	7	7	16	11	3	1	1	1	1	0	0	1	2	1	2	3	4	2	1	3	4	2	0			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:41129882G>A	ENST00000308370.7	+	30	3925	c.3925G>A	c.(3925-3927)Ggc>Agc	p.G1309S	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.G1272S|LTBP4_ENST00000396819.3_Missense_Mutation_p.G1242S|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.G677S	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1310	EGF-like 14; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGTGAGGGCGGCCGCTGTGT	0.602													9	32					0	0	0	0	A	41129882	G	A	41129882	3	1	252	1	0	0	0	0	1	0	0	0	9140	1116	39	1	4334	1	LTBP4	19	41129882	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	4764471	41129882	17999101	130	45402											
ZC3H4	23211	broad.mit.edu	37	chr19	47570690	47570690	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcccgcagagggtgcccGgggagtgggtccaggggaat	6	5	21	9	2	0	1	0	0	0	1	2	3	2	3	3	7	1	1	3	7	1	0			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:47570690G>A	ENST00000253048.5	-	15	2872	c.2835C>T	c.(2833-2835)ccC>ccT	p.P945P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	945							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GAGGGTGCCCGGGGAGTGGGT	0.677													37	185					0	0	0	0	A	47570690	G	A	47570690	2	1	252	1	0	0	0	0	0	0	0	1	17665	1103	39	1		1	ZC3H4	19	47570690	Silent	SNP	G	TCGA-CV-6937-01A-11D-2012-08	6440808	47570690	11558293	131	45403											
ZNF677	342926	broad.mit.edu	37	chr19	53740463	53740463	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctccagtatggattttcTtatgctgagtaagatttgaa	10	17	8	6	0	2	3	0	2	2	1	4	4	3	4	1	1	1	3	1	1	4	6			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:53740463T>G	ENST00000333952.4	-	5	1682	c.1517A>C	c.(1516-1518)aAg>aCg	p.K506T	ZNF677_ENST00000598513.1_Missense_Mutation_p.K506T			Q86XU0	ZN677_HUMAN	zinc finger protein 677	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ATGGATTTTCTTATGCTGAGT	0.388													5	74					0	0	0	0	G	53740463	T	G	53740463	3	3	252	1	0	0	0	0	1	0	0	0	18179	1609	56	5	241	5	ZNF677	19	53740463	Missense_Mutation	SNP	T	TCGA-CV-6937-01A-11D-2012-08	6169773	53740463	5388520	132	45404											
PTPRT	11122	broad.mit.edu	37	chr20	40710552	40710552	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accatgttggatttgttgttAcgcagtgttttcacgatgtg	7	17	11	6	2	1	0	1	0	0	0	1	2	1	1	1	1	1	5	1	1	1	6			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr20:40710552A>G	ENST00000373198.3	-	31	4543	c.4308T>C	c.(4306-4308)cgT>cgC	p.R1436R	PTPRT_ENST00000356100.2_Silent_p.R1423R|PTPRT_ENST00000373201.1_Silent_p.R1404R|PTPRT_ENST00000373184.1_Silent_p.R1424R|PTPRT_ENST00000373187.1_Silent_p.R1414R|PTPRT_ENST00000373190.1_Silent_p.R1413R|PTPRT_ENST00000373193.3_Silent_p.R1417R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1414	Tyrosine-protein phosphatase 2.				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)				ATTTGTTGTTACGCAGTGTTT	0.502													27	103					0	0	0	0	G	40710552	A	G	40710552	2	3	252	1	0	0	0	0	0	0	0	1	12894	378	14	5		5	PTPRT	20	40710552	Silent	SNP	A	TCGA-CV-6937-01A-11D-2012-08		40710552	22314968	133	45405											
TUBB1	81027	broad.mit.edu	37	chr20	57598597	57598597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctagaacctgggacgatGgacagcattcgatctagcaa	13	7	11	10	2	1	1	0	0	1	1	2	6	1	3	2	2	3	2	2	2	4	3	rs147465283		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr20:57598597G>A	ENST00000217133.1	+	3	488	c.219G>A	c.(217-219)atG>atA	p.M73I		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	73					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CTGGGACGATGGACAGCATTC	0.463													30	106					0	0	0	0	A	57598597	G	A	57598597	3	1	252	1	0	0	0	0	1	0	0	0	16849	1348	47	4	229	4	TUBB1	20	57598597	Missense_Mutation	SNP	G	TCGA-CV-6937-01A-11D-2012-08	16888045	57598597	5426923	134	45406											
SERPIND1	3053	broad.mit.edu	37	chr22	21134259	21134259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgggtacacactgcggtCagtcaatgacctttatatcc	9	14	8	10	1	2	1	2	1	0	0	3	1	3	1	2	2	2	1	2	2	4	6			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134259C>T	ENST00000215727.5	+	2	942	c.659C>T	c.(658-660)tCa>tTa	p.S220L	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.S220L|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	220					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)	ACACTGCGGTCAGTCAATGAC	0.433													90	321					0	0	0	0	T	21134259	C	T	21134259	3	4	252	1	0	0	0	0	1	0	0	0	14197	838	29	2	661	2	SERPIND1	22	21134259	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08		21134259	30170307	135	45407			1	66		6	5	221	N	C	4.824607e-14
SERPIND1	3053	broad.mit.edu	37	chr22	21134279	21134279	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaatgacctttatatcCagaagcagtttccaatcctg	12	12	6	11	0	1	2	1	1	0	1	4	2	4	2	4	0	1	2	4	0	5	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134279C>T	ENST00000215727.5	+	2	962	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Nonsense_Mutation_p.Q227*|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	227					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)	CCTTTATATCCAGAAGCAGTT	0.438													135	319					0	0	0	0	T	21134279	C	T	21134279	4	4	252	1	0	0	0	0	0	1	0	0	14197	595	21	4	681	4	SERPIND1	22	21134279	Nonsense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	20	21134279	30170287	136	45408			1	66		6	5	221	N	C	4.824607e-14
SERPIND1	3053	broad.mit.edu	37	chr22	21134359	21134359	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggcccagatagctgacttCtcagaccctgccttcatatc	9	10	8	14	0	2	3	2	1	1	2	4	4	2	3	3	1	2	1	3	1	2	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134359C>T	ENST00000215727.5	+	2	1042	c.759C>T	c.(757-759)ttC>ttT	p.F253F	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.F253F|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	253					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)	TAGCTGACTTCTCAGACCCTG	0.433													482	692					0	0	0	0	T	21134359	C	T	21134359	2	4	252	1	0	0	0	0	0	0	0	1	14197	912	32	2		2	SERPIND1	22	21134359	Silent	SNP	C	TCGA-CV-6937-01A-11D-2012-08	80	21134359	30170207	137	45409			1	66		6	5	221	N	C	4.824607e-14
SERPIND1	3053	broad.mit.edu	37	chr22	21134379	21134379	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagaccctgccttcatatCaaaaaccaacaaccacatca	16	7	2	16	0	4	1	4	0	0	1	4	1	4	1	4	0	4	0	4	0	5	2	rs76882693		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134379C>G	ENST00000215727.5	+	2	1062	c.779C>G	c.(778-780)tCa>tGa	p.S260*	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Nonsense_Mutation_p.S260*|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	260					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)	GCCTTCATATCAAAAACCAAC	0.438													591	803					0	0	0	0	G	21134379	C	G	21134379	4	3	252	1	0	0	0	0	0	1	0	0	14197	838	29	2	781	2	SERPIND1	22	21134379	Nonsense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	20	21134379	30170187	138	45410			1	66		6	5	221	N	C	4.824607e-14
SERPIND1	3053	broad.mit.edu	37	chr22	21134470	21134470	+	Silent	SNP	C	C	T																															gctacccagatgatgattctCaactgcatctacttcaaagg																										TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134470C>T	ENST00000215727.5	+	2	1153	c.870C>T	c.(868-870)ctC>ctT	p.L290L	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.L290L|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	290					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)	TGATGATTCTCAACTGCATCT	0.418													617	870					0	0	0	0	T	21134470	C	T	21134470	2	4	252	1	0	0	0	0	0	0	0	1	14197	813	29	2		2	SERPIND1	22	21134470	Silent	SNP	C	TCGA-CV-6937-01A-11D-2012-08	91	21134470	30170096	139	45411	345	2	1	66		6	5	221	N	C	4.824607e-14
SERPIND1	3053	broad.mit.edu	37	chr22	21134479	21134479	+	Silent	SNP	C	C	T																															atgatgattctcaactgcatCtacttcaaaggtaagaggca																										TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134479C>T	ENST00000215727.5	+	2	1162	c.879C>T	c.(877-879)atC>atT	p.I293I	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.I293I|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	293					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)	TCAACTGCATCTACTTCAAAG	0.423													567	825					0	0	0	0	T	21134479	C	T	21134479	2	4	252	1	0	0	0	0	0	0	0	1	14197	903	32	2		2	SERPIND1	22	21134479	Silent	SNP	C	TCGA-CV-6937-01A-11D-2012-08	9	21134479	30170087	140	45412	345	2	1	66		6	5	221	N	C	4.824607e-14
SUSD2	56241	broad.mit.edu	37	chr22	24582117	24582117	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcgggcccagcccgggacGatgtccaacggtgaggccag	7	3	17	14	5	0	1	0	1	0	0	1	3	1	2	4	4	2	0	4	4	1	0			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:24582117G>A	ENST00000358321.3	+	9	1734	c.1473G>A	c.(1471-1473)acG>acA	p.T491T		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	491	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGCCCGGGACGATGTCCAACG	0.662													4	21					0	0	0	0	A	24582117	G	A	24582117	2	1	252	1	0	0	0	0	0	0	0	1	15498	1045	37	1		1	SUSD2	22	24582117	Silent	SNP	G	TCGA-CV-6937-01A-11D-2012-08	3447638	24582117	26722449	141	45413											
XRCC6	2547	broad.mit.edu	37	chr22	42032124	42032124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttttcagtgtatccAaagtgtgtacatcagtaaga	11	18	7	5	0	2	1	2	0	0	1	3	1	3	1	1	0	1	3	1	0	4	8			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:42032124A>G	ENST00000359308.4	+	3	858	c.203A>G	c.(202-204)cAa>cGa	p.Q68R	XRCC6_ENST00000405506.1_Missense_Mutation_p.Q18R|XRCC6_ENST00000428575.2_5'UTR|XRCC6_ENST00000405878.1_Missense_Mutation_p.Q68R|XRCC6_ENST00000402580.3_Intron|XRCC6_ENST00000360079.3_Missense_Mutation_p.Q68R			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	68					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTGTATCCAAAGTGTGTAC	0.338								Non-homologous end-joining					7	34					0	0	0	0	G	42032124	A	G	42032124	3	3	252	1	0	0	0	0	1	0	0	0	17553	130	5	5	213	5	XRCC6	22	42032124	Missense_Mutation	SNP	A	TCGA-CV-6937-01A-11D-2012-08	17450007	42032124	9272442	142	45414											
TUBGCP6	85378	broad.mit.edu	37	chr22	50664276	50664276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccctctccatgcgcccaaCgtagacggcacagtccttct	8	8	7	18	3	2	1	0	0	2	1	4	1	3	1	4	1	2	2	4	1	2	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:50664276C>T	ENST00000439308.2	-	10	2422	c.1930G>A	c.(1930-1932)Gtt>Att	p.V644I	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.V644I|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	644					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATGCGCCCAACGTAGACGGCA	0.607													5	36					0	0	0	0	T	50664276	C	T	50664276	3	4	252	1	0	0	0	0	1	0	0	0	16866	536	19	1	3593	1	TUBGCP6	22	50664276	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	8632152	50664276	640290	143	45415											
CRLF2	64109	broad.mit.edu	37	chrX	1325403	1325403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatagagaatgtcgtctCgctgctctgcgtctaggagg	10	10	13	8	3	3	2	0	0	3	2	5	4	3	3	0	2	2	2	0	2	4	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chrX:1325403C>A	ENST00000381567.3	-	3	271	c.272G>T	c.(271-273)cGa>cTa	p.R91L	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.R91L	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	91						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AATGTCGTCTCGCTGCTCTGC	0.507			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								5	143					0.00116845	0.00696284	1	0	A	1325403	C	A	1325403	3	1	252	1	0	0	0	0	1	0	0	0	3917	884	31	3	517	3	CRLF2	23	1325403	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08		1325403	153945157	144	45416											
ARSF	416	broad.mit.edu	37	chrX	3030221	3030221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttctcctccaggtgggtCagtttggaaggctcactatg	6	14	11	10	0	3	0	2	0	1	0	5	1	4	1	2	4	0	2	2	4	2	4			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chrX:3030221C>T	ENST00000381127.1	+	11	1618	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	ARSF_ENST00000537104.1_Missense_Mutation_p.S466L|ARSF_ENST00000359361.2_Missense_Mutation_p.S466L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	466						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ccAGGTGGGTCAGTTTGGAAG	0.517													25	28					0	0	0	0	T	3030221	C	T	3030221	3	4	252	1	0	0	0	0	1	0	0	0	995	838	29	2	1435	2	ARSF	23	3030221	Missense_Mutation	SNP	C	TCGA-CV-6937-01A-11D-2012-08	1704818	3030221	152240339	145	45417											
TLR8	51311	broad.mit.edu	37	chrX	12937993	12937993	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggtgcttcaattaatatAgatcgttttgcttttcaaaa	11	17	8	5	1	2	1	2	0	0	1	3	1	2	1	0	2	2	3	0	2	6	8			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chrX:12937993A>T	ENST00000218032.6	+	2	921	c.834A>T	c.(832-834)atA>atT	p.I278I	TLR8_ENST00000311912.5_Silent_p.I296I	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	278					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAATTAATATAGATCGTTTTG	0.408													12	47					0	0	0	0	T	12937993	A	T	12937993	2	4	252	1	0	0	0	0	0	0	0	1	16051	410	15	5		5	TLR8	23	12937993	Silent	SNP	A	TCGA-CV-6937-01A-11D-2012-08	9907772	12937993	142332567	146	45418											
FAM47C	442444	broad.mit.edu	37	chrX	37026544	37026544	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatggactccacgccctggTactgtgacaaaccgccttcc	8	8	9	16	2	0	1	0	1	0	0	2	2	2	2	5	2	2	2	5	2	2	2			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chrX:37026544T>C	ENST00000358047.3	+	1	113	c.61T>C	c.(61-63)Tac>Cac	p.Y21H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	21										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CACGCCCTGGTACTGTGACAA	0.657													12	13					0	0	0	0	C	37026544	T	C	37026544	3	2	252	1	0	0	0	0	1	0	0	0	5618	1638	57	5	63	5	FAM47C	23	37026544	Missense_Mutation	SNP	T	TCGA-CV-6937-01A-11D-2012-08	24088551	37026544	118244016	147	45419											
ARHGEF9	23229	broad.mit.edu	37	chrX	62917122	62917122	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcttcaatgttcccaaaGattaccttcagttgctcgtc	10	15	5	11	1	3	1	2	0	1	1	6	1	4	1	2	0	2	3	2	0	4	6			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chrX:62917122G>T	ENST00000253401.6	-	4	1244	c.444C>A	c.(442-444)atC>atA	p.I148I	ARHGEF9_ENST00000437457.2_Silent_p.I95I|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Silent_p.I46I|ARHGEF9_ENST00000374872.1_Silent_p.I127I|ARHGEF9_ENST00000374878.1_Silent_p.I146I	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	148	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TGTTCCCAAAGATTACCTTCA	0.468													9	18					3.86212e-05	0.00023997	1	0	T	62917122	G	T	62917122	2	4	252	1	0	0	0	0	0	0	0	1	914	932	33	2		2	ARHGEF9	23	62917122	Silent	SNP	G	TCGA-CV-6937-01A-11D-2012-08	25890578	62917122	92353438	148	45420											
ERRFI1	54206	broad.mit.edu	37	chr1	8074054	8074054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgatttgtccacacccaCggaagcttcgcctgccagga	9	9	10	13	2	0	1	0	1	0	0	2	3	1	3	4	2	2	2	4	2	1	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:8074054C>T	ENST00000377482.5	-	4	828	c.605G>A	c.(604-606)cGt>cAt	p.R202H	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	202					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TCCACACCCACGGAAGCTTCG	0.443													7	38					0	0	0	0	T	8074054	C	T	8074054	3	4	253	1	0	0	0	0	1	0	0	0	5282	536	19	1	787	1	ERRFI1	1	8074054	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08		8074054	241176567	1	45421											
CA6	765	broad.mit.edu	37	chr1	9022705	9022705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttctcatctggccaacatCaagtacccaggtaagggaag	13	9	9	10	0	3	0	2	0	2	0	4	1	3	1	2	3	2	2	2	3	5	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:9022705C>T	ENST00000377443.2	+	5	565	c.561C>T	c.(559-561)atC>atT	p.I187I	CA6_ENST00000377436.3_Silent_p.I187I|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Silent_p.I127I	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	187					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCAACATCAAGTACCCAG	0.507													12	66					0	0	0	0	T	9022705	C	T	9022705	2	4	253	1	0	0	0	0	0	0	0	1	2546	816	29	2		2	CA6	1	9022705	Silent	SNP	C	TCGA-CV-6938-01A-11D-1912-08	948651	9022705	240227916	2	45422											
VPS13D	55187	broad.mit.edu	37	chr1	12416557	12416557	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtcctctcttattctgctAtgctgacaaagagcagccaa	11	11	8	11	0	2	2	0	1	2	1	4	3	3	2	2	0	4	3	2	0	4	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:12416557A>G	ENST00000358136.3	+	49	10104	c.9974A>G	c.(9973-9975)tAt>tGt	p.Y3325C	VPS13D_ENST00000356315.4_Missense_Mutation_p.Y3300C	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3324					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTATTCTGCTATGCTGACAAA	0.468													22	77					0	0	0	0	G	12416557	A	G	12416557	3	3	253	1	0	0	0	0	1	0	0	0	17288	449	16	5	10164	5	VPS13D	1	12416557	Missense_Mutation	SNP	A	TCGA-CV-6938-01A-11D-1912-08	3393852	12416557	236834064	3	45423											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17944985	17944987	+	In_Frame_Del	DEL	CCT	CCT	-																															ccacgccgtcatccgctgtcCctcctcctcctcctcctctg																										TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:17944985_17944987delCCT	ENST00000375408.3	+	1	175_177	c.137_139delCCT	c.(136-141)ccc>c	p.PS46del	ARHGEF10L_ENST00000375415.1_Intron|ARHGEF10L_ENST00000375420.3_Intron|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000361221.3_Intron|ARHGEF10L_ENST00000167825.4_In_Frame_Del_p.PS46del|ARHGEF10L_ENST00000452522.1_Intron			Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	0					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ATCCGCTGTCcctcctcctcctc	0.68													2	4	---	---	---	---					-	17944987	CCT	-	17944985	7	5	253	1	0	1	0	1	0	0	0	0	897	638	22	0		0	ARHGEF10L	1	17944985	In_Frame_Del	DEL	CCT	TCGA-CV-6938-01A-11D-1912-08	5528428	17944985	231305636	4	45424											
DHDDS	79947	broad.mit.edu	37	chr1	26769228	26769228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcccctctcagactctgCggtggtgtttgaacctgggc	4	13	11	13	1	3	2	1	1	3	1	5	2	3	2	3	3	2	1	3	3	1	2	rs148606976		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:26769228C>T	ENST00000360009.2	+	4	264	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	DHDDS_ENST00000236342.7_Missense_Mutation_p.R63W|DHDDS_ENST00000526219.1_Missense_Mutation_p.R63W|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000525682.2_Missense_Mutation_p.R63W|DHDDS_ENST00000374185.3_Missense_Mutation_p.R63W|DHDDS_ENST00000427245.2_Missense_Mutation_p.R63W	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	63							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCAGACTCTGCGGTGGTGTTT	0.493													46	119					0	0	0	0	T	26769228	C	T	26769228	3	4	253	1	0	0	0	0	1	0	0	0	4515	759	27	1	197	1	DHDDS	1	26769228	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	8824243	26769228	222481393	5	45425											
PHC2	1912	broad.mit.edu	37	chr1	33795788	33795788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctgagtggaaaagtcccaCccgtttggtgcatcccacgt	8	10	11	12	2	1	1	0	1	1	0	3	2	3	2	3	2	1	2	3	2	2	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:33795788C>T	ENST00000257118.5	-	12	2082	c.2029G>A	c.(2029-2031)Gtg>Atg	p.V677M	PHC2_ENST00000431992.1_Missense_Mutation_p.V648M|PHC2_ENST00000419414.2_Missense_Mutation_p.V678M|PHC2_ENST00000373422.3_Missense_Mutation_p.V283M|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373416.1_Missense_Mutation_p.V142M|PHC2_ENST00000373418.3_Missense_Mutation_p.V142M	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	677					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAAAGTCCCACCCGTTTGGTG	0.582													7	61					0	0	0	0	T	33795788	C	T	33795788	3	4	253	1	0	0	0	0	1	0	0	0	11889	507	18	4	559	4	PHC2	1	33795788	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	7026560	33795788	215454833	6	45426											
GFI1	2672	broad.mit.edu	37	chr1	92948573	92948573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacggtcccggggctccGccttcgccccgcctgcattt	5	8	10	18	5	0	0	0	0	0	0	3	0	2	0	6	3	2	2	6	3	1	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:92948573G>A	ENST00000370332.1	-	3	464	c.146C>T	c.(145-147)gCg>gTg	p.A49V	GFI1_ENST00000294702.5_Missense_Mutation_p.A49V|GFI1_ENST00000483490.1_5'UTR|GFI1_ENST00000427103.1_Missense_Mutation_p.A49V	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	49					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CCGGGGCTCCGCCTTCGCCCC	0.662													12	54					0	0	0	0	A	92948573	G	A	92948573	3	1	253	1	0	0	0	0	1	0	0	0	6390	1087	38	1	1142	1	GFI1	1	92948573	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	59152785	92948573	156302048	7	45427											
TCHH	7062	broad.mit.edu	37	chr1	152083257	152083257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccttctcctcctcctcCgggagaaaccgttgttcccg	4	12	8	17	3	1	1	0	0	1	1	7	2	6	1	7	1	2	3	7	1	1	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:152083257C>T	ENST00000368804.1	-	2	2435	c.2436G>A	c.(2434-2436)ccG>ccA	p.P812P		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	812					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCCTCCGGGAGAAACC	0.701													7	65					0	0	0	0	T	152083257	C	T	152083257	2	4	253	1	0	0	0	0	0	0	0	1	15794	639	23	1		1	TCHH	1	152083257	Silent	SNP	C	TCGA-CV-6938-01A-11D-1912-08	59134684	152083257	97167364	8	45428											
FLG	2312	broad.mit.edu	37	chr1	152279952	152279952	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatccctgccttcctccActgcttgaccccgggtgtcc	3	11	10	17	1	0	1	0	1	0	0	4	2	4	2	7	2	2	1	7	2	0	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:152279952A>T	ENST00000368799.1	-	3	7445	c.7410T>A	c.(7408-7410)agT>agA	p.S2470R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2470	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTTCCTCCACTGCTTGACC	0.567									Ichthyosis				36	581					0	0	0	0	T	152279952	A	T	152279952	3	4	253	1	0	0	0	0	1	0	0	0	5967	156	6	5	4779	5	FLG	1	152279952	Missense_Mutation	SNP	A	TCGA-CV-6938-01A-11D-1912-08	196695	152279952	96970669	9	45429											
PMF1	11243	broad.mit.edu	37	chr1	156206091	156206091	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctccaggcgccccagcggGatcccagagaaggatctgca	9	4	12	16	2	1	1	0	0	1	1	3	4	3	3	5	3	2	1	5	3	1	0			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:156206091G>T	ENST00000368277.3	+	4	390	c.381G>T	c.(379-381)ggG>ggT	p.G127G	PMF1_ENST00000368273.4_Silent_p.G129G|PMF1_ENST00000368279.3_Intron|PMF1_ENST00000567140.1_Intron|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1-BGLAP_ENST00000490491.1_Silent_p.G127G	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					GCCCCAGCGGGATCCCAGAGA	0.617													9	110					1.76689e-08	2.33189e-08	1	0	T	156206091	G	T	156206091	2	4	253	1	0	0	0	0	0	0	0	1	12205	1161	41	2		2	PMF1	1	156206091	Silent	SNP	G	TCGA-CV-6938-01A-11D-1912-08	3926139	156206091	93044530	10	45430											
OLFML2B	25903	broad.mit.edu	37	chr1	161953756	161953756	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctgtgtgctcaggtcCgcggcattgagcttgctcag	4	13	12	12	2	3	1	2	1	1	0	5	1	5	1	2	2	3	4	2	2	0	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:161953756C>T	ENST00000294794.3	-	8	2385	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A	OLFML2B_ENST00000367940.2_Silent_p.A655A|OLFML2B_ENST00000367938.1_Silent_p.A137A	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	654	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGCTCAGGTCCGCGGCATTGA	0.582													13	71					0	0	0	0	T	161953756	C	T	161953756	2	4	253	1	0	0	0	0	0	0	0	1	10929	639	23	1		1	OLFML2B	1	161953756	Silent	SNP	C	TCGA-CV-6938-01A-11D-1912-08	5747665	161953756	87296865	11	45431											
PIK3C2B	5287	broad.mit.edu	37	chr1	204394760	204394760	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatctcattgtaggtaggaTtgcaggttttccgggccact	7	13	11	10	1	1	0	1	0	1	0	3	1	2	1	3	4	1	4	3	4	2	6	rs143735929		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:204394760T>A	ENST00000367187.3	-	33	5253	c.4697A>T	c.(4696-4698)aAt>aTt	p.N1566I	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.N1538I	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1566	C2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTAGGTAGGATTGCAGGTTTT	0.498													11	59					0	0	0	0	A	204394760	T	A	204394760	3	1	253	1	0	0	0	0	1	0	0	0	11982	1493	52	5	215	5	PIK3C2B	1	204394760	Missense_Mutation	SNP	T	TCGA-CV-6938-01A-11D-1912-08	42441004	204394760	44855861	12	45432											
TMCC2	9911	broad.mit.edu	37	chr1	205238928	205238928	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagggacagtctcaccTggaggactccatggaagacc	12	5	13	11	0	1	1	1	0	1	1	3	6	2	6	3	5	0	0	3	5	2	0			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:205238928T>C	ENST00000358024.3	+	3	1987	c.1598T>C	c.(1597-1599)cTg>cCg	p.L533P	TMCC2_ENST00000545499.1_Missense_Mutation_p.L455P|TMCC2_ENST00000330675.7_Missense_Mutation_p.L308P|TMCC2_ENST00000329800.7_Missense_Mutation_p.L293P|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	533						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGTCTCACCTGGAGGACTCC	0.587													3	144					0	0	0	0	C	205238928	T	C	205238928	3	2	253	1	0	0	0	0	1	0	0	0	16087	1580	55	5	1608	5	TMCC2	1	205238928	Missense_Mutation	SNP	T	TCGA-CV-6938-01A-11D-1912-08	844168	205238928	44011693	13	45433											
SLC26A9	115019	broad.mit.edu	37	chr1	205899105	205899105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatcaggatctgcaggccgGcggccgtcatgaagccccgg	9	5	14	13	4	3	1	2	1	1	0	3	2	3	2	4	5	2	1	4	5	2	0			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:205899105G>T	ENST00000367135.3	-	6	745	c.632C>A	c.(631-633)gCc>gAc	p.A211D	SLC26A9_ENST00000340781.4_Missense_Mutation_p.A211D|SLC26A9_ENST00000367134.2_Missense_Mutation_p.A211D	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	211						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTGCAGGCCGGCGGCCGTCAT	0.577													9	47					1.12685e-05	1.45338e-05	1	0	T	205899105	G	T	205899105	3	4	253	1	0	0	0	0	1	0	0	0	14612	1203	42	4	2103	4	SLC26A9	1	205899105	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	660177	205899105	43351516	14	45434											
IRF6	3664	broad.mit.edu	37	chr1	209969692	209969692	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccagcacctggggcctcaCctgggttaatgatcgagccc	7	7	11	16	1	1	1	1	1	0	0	2	2	1	1	6	3	2	2	6	3	1	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:209969692C>G	ENST00000367021.3	-	4	552		c.e4+1		IRF6_ENST00000542854.1_Splice_Site	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGGGGCCTCACCTGGGTTAAT	0.512										HNSCC(57;0.16)			6	53					0	0	0	0	G	209969692	C	G	209969692	5	3	253	1	0	0	0	0	0	0	1	0	7887	521	18	4	1047	4	IRF6	1	209969692	Splice_Site	SNP	C	TCGA-CV-6938-01A-11D-1912-08	4070587	209969692	39280929	15	45435											
VASH2	79805	broad.mit.edu	37	chr1	213146032	213146032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggatttactgcaatggccGctatggctcattgggcatga	8	11	14	8	1	1	1	1	1	0	0	1	2	1	2	1	5	2	4	1	5	3	4	rs150945050		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:213146032G>A	ENST00000366968.4	+	7	763	c.413G>A	c.(412-414)cGc>cAc	p.R138H	VASH2_ENST00000366966.2_Missense_Mutation_p.R138H|VASH2_ENST00000517399.1_Missense_Mutation_p.R203H|VASH2_ENST00000366964.3_Missense_Mutation_p.R61H|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366967.2_Missense_Mutation_p.R99H|VASH2_ENST00000366965.2_Missense_Mutation_p.R159H	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	203					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGCAATGGCCGCTATGGCTCA	0.502													10	82					0	0	0	0	A	213146032	G	A	213146032	3	1	253	1	0	0	0	0	1	0	0	0	17222	1087	38	1	626	1	VASH2	1	213146032	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	3176340	213146032	36104589	16	45436											
MARK1	4139	broad.mit.edu	37	chr1	220824023	220824023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgtctgtgaaaggaccaCagatcgatacgtagcattgc	13	10	10	8	2	1	2	0	1	1	1	2	4	1	3	1	1	3	2	1	1	4	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:220824023C>T	ENST00000402574.1	+	14	2129	c.1127C>T	c.(1126-1128)aCa>aTa	p.T376I	MARK1_ENST00000366918.4_Missense_Mutation_p.T489I|MARK1_ENST00000366917.4_Missense_Mutation_p.T511I	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	511					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAAAGGACCACAGATCGATAC	0.378													14	101					0	0	0	0	T	220824023	C	T	220824023	3	4	253	1	0	0	0	0	1	0	0	0	9381	478	17	4	1586	4	MARK1	1	220824023	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	7677991	220824023	28426598	17	45437											
AGT	183	broad.mit.edu	37	chr1	230841942	230841942	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagggagaagcccttcatCttccctgaaatccagacagg	12	7	10	12	0	2	3	1	1	1	2	4	4	4	3	3	2	2	1	3	2	2	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:230841942C>T	ENST00000366667.4	-	3	1075	c.861G>A	c.(859-861)aaG>aaA	p.K287K		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	287					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	AGCCCTTCATCTTCCCTGAAA	0.607													6	39					0	0	0	0	T	230841942	C	T	230841942	2	4	253	1	0	0	0	0	0	0	0	1	399	912	32	2		2	AGT	1	230841942	Silent	SNP	C	TCGA-CV-6938-01A-11D-1912-08	10017919	230841942	18408679	18	45438											
AGT	183	broad.mit.edu	37	chr1	230846071	230846071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agacaggaccttgtgcgcatCcagccgggaggtgcagttct	8	8	14	11	2	1	1	0	0	1	1	2	3	2	3	3	3	3	3	3	3	0	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:230846071C>T	ENST00000366667.4	-	2	740	c.526G>A	c.(526-528)Gat>Aat	p.D176N		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	176					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TTGTGCGCATCCAGCCGGGAG	0.627													8	66					0	0	0	0	T	230846071	C	T	230846071	3	4	253	1	0	0	0	0	1	0	0	0	399	855	30	2	947	2	AGT	1	230846071	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	4129	230846071	18404550	19	45439											
ADSS	159	broad.mit.edu	37	chr1	244579342	244579342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactccaactttgatttccGtaaacatgtccaaaatatcc	14	12	3	12	1	0	1	0	1	0	0	4	1	4	1	4	0	3	1	4	0	7	4	rs147946123	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:244579342G>A	ENST00000366535.3	-	11	1425	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	370					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TTTGATTTCCGTAAACATGTC	0.338													3	31					0	0	0	0	A	244579342	G	A	244579342	3	1	253	1	0	0	0	0	1	0	0	0	347	1145	40	1	273	1	ADSS	1	244579342	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	13733271	244579342	4671279	20	45440											
AHCTF1	25909	broad.mit.edu	37	chr1	247014644	247014644	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcaatagtatcaaaattgTactgaagcttaagtgttcca	14	13	8	6	0	2	1	2	1	0	0	3	1	3	1	1	1	2	4	1	1	8	6			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:247014644T>A	ENST00000366508.1	-	33	4905	c.4769A>T	c.(4768-4770)tAc>tTc	p.Y1590F	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.Y1564F|AHCTF1_ENST00000391829.2_Missense_Mutation_p.Y1555F			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1555	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCAAAATTGTACTGAAGCTT	0.378													10	74					0	0	0	0	A	247014644	T	A	247014644	3	1	253	1	0	0	0	0	1	0	0	0	408	1638	57	5	2152	5	AHCTF1	1	247014644	Missense_Mutation	SNP	T	TCGA-CV-6938-01A-11D-1912-08	2435302	247014644	2235977	21	45441											
ERLEC1	27248	broad.mit.edu	37	chr2	54041718	54041718	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatggagatatttgtgAtataactgacaaaccaagac	17	10	9	5	0	0	4	0	2	0	2	0	6	0	5	1	2	2	0	1	2	6	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:54041718A>T	ENST00000185150.4	+	12	1396	c.1265A>T	c.(1264-1266)gAt>gTt	p.D422V	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.D368V|ASB3_ENST00000406625.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	422					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						GATATTTGTGATATAACTGAC	0.318													3	29					0	0	0	0	T	54041718	A	T	54041718	3	4	253	1	0	0	0	0	1	0	0	0	5269	333	12	5	1311	5	ERLEC1	2	54041718	Missense_Mutation	SNP	A	TCGA-CV-6938-01A-11D-1912-08		54041718	189157655	22	45442											
ANTXR1	84168	broad.mit.edu	37	chr2	69472570	69472570	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccaggctccacctcccAacagggcacctcctccctcc	6	6	5	24	0	0	0	0	0	0	0	6	0	6	0	9	2	1	2	9	2	1	0			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:69472570A>G	ENST00000303714.4	+	18	1970	c.1648A>G	c.(1648-1650)Aac>Gac	p.N550D		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	550	Pro-rich.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						tccacctcccaacagggcacc	0.662									Familial Infantile Hemangioma				6	54					0	0	0	0	G	69472570	A	G	69472570	3	3	253	1	0	0	0	0	1	0	0	0	710	130	5	5	1795	5	ANTXR1	2	69472570	Missense_Mutation	SNP	A	TCGA-CV-6938-01A-11D-1912-08	15430852	69472570	173726803	23	45443											
PROM2	150696	broad.mit.edu	37	chr2	95942354	95942354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctaggagctgcaggccGtggcacagcaattctccctg	7	9	12	13	1	1	0	0	0	1	0	2	1	1	1	3	3	4	4	3	3	2	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:95942354G>A	ENST00000317620.9	+	5	764	c.631G>A	c.(631-633)Gtg>Atg	p.V211M	PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000542147.1_Missense_Mutation_p.V211M|PROM2_ENST00000317668.4_Missense_Mutation_p.V211M|PROM2_ENST00000403131.2_Missense_Mutation_p.V211M	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	211						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTGCAGGCCGTGGCACAGCA	0.647													7	57					0	0	0	0	A	95942354	G	A	95942354	3	1	253	1	0	0	0	0	1	0	0	0	12636	1145	40	1	649	1	PROM2	2	95942354	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	26469784	95942354	147257019	24	45444											
CNNM4	26504	broad.mit.edu	37	chr2	97427064	97427064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaagtccaccagctgcctcGagctcaccaaggacctggtc	10	6	9	16	1	1	0	1	0	0	0	4	2	2	1	5	2	3	2	5	2	2	0			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:97427064G>A	ENST00000377075.2	+	1	426	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	110					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CAGCTGCCTCGAGCTCACCAA	0.632													10	53					0	0	0	0	A	97427064	G	A	97427064	3	1	253	1	0	0	0	0	1	0	0	0	3645	1059	37	1	330	1	CNNM4	2	97427064	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	1484710	97427064	145772309	25	45445											
VWA3B	200403	broad.mit.edu	37	chr2	98779314	98779314	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgctgtgtctccccttttagGagctggagtcagagaggacg	7	11	14	9	1	2	1	1	0	1	1	3	5	2	4	2	3	2	2	2	3	1	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:98779314G>C	ENST00000477737.1	+	8	1193	c.988_splice	c.e8-1	p.G330_splice	VWA3B_ENST00000435344.1_Splice_Site_p.G330_splice|VWA3B_ENST00000451075.2_Splice_Site_p.G180_splice	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	330										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCCCTTTTAGGAGCTGGAGTC	0.612													5	32					0	0	0	0	C	98779314	G	C	98779314	5	2	253	1	0	0	0	0	0	0	1	0	17337	1188	41	2	1015	2	VWA3B	2	98779314	Splice_Site	SNP	G	TCGA-CV-6938-01A-11D-1912-08	1352250	98779314	144420059	26	45446											
LRP1B	53353	broad.mit.edu	37	chr2	141130669	141130669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacactgaccattggaacacCggaactgatctttggaacaa	14	9	8	10	1	1	2	0	2	1	0	1	5	1	5	2	3	4	0	2	3	5	3	rs145915063		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:141130669C>T	ENST00000389484.3	-	69	11647	c.10676G>A	c.(10675-10677)cGg>cAg	p.R3559Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3559	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTGGAACACCGGAACTGATC	0.368										TSP Lung(27;0.18)			22	84					0	0	0	0	T	141130669	C	T	141130669	3	4	253	1	0	0	0	0	1	0	0	0	9019	652	23	1	3215	1	LRP1B	2	141130669	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	42351355	141130669	102068704	27	45447											
TTN	7273	broad.mit.edu	37	chr2	179477175	179477175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccagccttttcgcctgaCgtctctcttttccacaatgt	5	16	6	14	2	2	1	0	1	2	0	5	1	3	1	4	0	2	0	4	0	1	5			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:179477175C>T	ENST00000589042.1	-	266	50301	c.50077G>A	c.(50077-50079)Gtc>Atc	p.V16693I	TTN_ENST00000460472.2_Missense_Mutation_p.V7628I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V14125I|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V7820I|TTN_ENST00000359218.5_Missense_Mutation_p.V7753I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V15052I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15052	Fibronectin type-III 21.						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)			TTTCGCCTGACGTCTCTCTTT	0.463													6	41					0	0	0	0	T	179477175	C	T	179477175	3	4	253	1	0	0	0	0	1	0	0	0	16831	536	19	1	58004	1	TTN	2	179477175	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	38346506	179477175	63722198	28	45448											
COL5A2	1290	broad.mit.edu	37	chr2	189916125	189916136	+	In_Frame_Del	DEL	CCATGAGAGCCA	CCATGAGAGCCA	-																															gtcctcgatctcccacacgcCcatgagagccagggtcccca																										TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:189916125_189916136delCCATGAGAGCCA	ENST00000374866.3	-	42	3115_3126	c.2841_2852delTGGCTCTCATGG	c.(2839-2853)ccg>cc	p.PGSHG947del		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	947					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCCACACGCCCATGAGAGCCAGGGTCCCCAC	0.608													8	75	---	---	---	---					-	189916136	CCATGAGAGCCA	-	189916125	7	5	253	1	0	1	0	1	0	0	0	0	3727	623	22	0	1699	0	COL5A2	2	189916125	In_Frame_Del	DEL	CCATGAGAGCCA	TCGA-CV-6938-01A-11D-1912-08	10438950	189916125	53283248	29	45449											
DNAH7	56171	broad.mit.edu	37	chr2	196605563	196605563	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctttctattccaggaagctCcatccagaaataatccgtga	12	12	6	11	1	2	2	0	1	2	1	6	3	6	3	4	1	1	1	4	1	4	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:196605563C>G	ENST00000312428.6	-	64	11895	c.11795G>C	c.(11794-11796)gGa>gCa	p.G3932A	DNAH7_ENST00000409063.1_Missense_Mutation_p.G415A|DNAH7_ENST00000484183.1_5'UTR	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3932					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCAGGAAGCTCCATCCAGAAA	0.303													12	82					0	0	0	0	G	196605563	C	G	196605563	3	3	253	1	0	0	0	0	1	0	0	0	4642	855	30	2	287	2	DNAH7	2	196605563	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	6689438	196605563	46593810	30	45450											
CASP8	841	broad.mit.edu	37	chr2	202151199	202151199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaggcgatgatattctcaCcatcctgactgaagtgaact	12	10	9	10	1	1	5	1	4	1	1	3	6	2	5	2	1	1	0	2	1	3	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:202151199C>T	ENST00000358485.4	+	9	1695	c.1499C>T	c.(1498-1500)aCc>aTc	p.T500I	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.T357I|CASP8_ENST00000264275.5_Missense_Mutation_p.T458I|CASP8_ENST00000432109.2_Missense_Mutation_p.T441I|CASP8_ENST00000323492.7_Missense_Mutation_p.T426I	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	441					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GATATTCTCACCATCCTGACT	0.413										HNSCC(4;0.00038)			4	30					0	0	0	0	T	202151199	C	T	202151199	3	4	253	1	0	0	0	0	1	0	0	0	2702	507	18	4	1633	4	CASP8	2	202151199	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	5545636	202151199	41048174	31	45451											
AAMP	14	broad.mit.edu	37	chr2	219131638	219131638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccacactttcaagaggcCactcatgtcccctgtggcca	8	9	8	16	0	2	1	2	0	0	1	3	1	3	1	5	2	1	0	5	2	1	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:219131638C>T	ENST00000248450.4	-	4	636	c.466G>A	c.(466-468)Ggc>Agc	p.G156S	AAMP_ENST00000420660.1_Missense_Mutation_p.G137S|AAMP_ENST00000444053.1_Missense_Mutation_p.G157S			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	156					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCAAGAGGCCACTCATGTCC	0.527													27	69					0	0	0	0	T	219131638	C	T	219131638	3	4	253	1	0	0	0	0	1	0	0	0	17	594	21	4	870	4	AAMP	2	219131638	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	16980439	219131638	24067735	32	45452											
HTR2B	3357	broad.mit.edu	37	chr2	231973514	231973514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatcggccaaatgcatccCgaaatgtcttattgaagagg	13	11	9	8	2	1	2	0	1	1	1	3	3	2	2	2	2	1	1	2	2	6	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:231973514C>A	ENST00000258400.3	-	4	1675	c.1163G>T	c.(1162-1164)cGg>cTg	p.R388L	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	388			R -> W (in dbSNP:rs77982984).		activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	AAATGCATCCCGAAATGTCTT	0.438													23	101					1.10923e-09	1.48115e-09	1	0	A	231973514	C	A	231973514	3	1	253	1	0	0	0	0	1	0	0	0	7495	652	23	3	286	3	HTR2B	2	231973514	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	12841876	231973514	11225859	33	45453											
OSBPL10	114884	broad.mit.edu	37	chr3	31712335	31712335	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtgtggaatatcactgTcgctgagtacccagtcttgg	7	13	11	10	2	2	1	1	1	1	0	4	2	2	2	1	2	1	2	1	2	3	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:31712335T>C	ENST00000396556.2	-	9	1989	c.1867A>G	c.(1867-1869)Aca>Gca	p.T623A	OSBPL10_ENST00000438237.2_Missense_Mutation_p.T559A	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	623					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AATATCACTGTCGCTGAGTAC	0.547													12	130					0	0	0	0	C	31712335	T	C	31712335	3	2	253	1	0	0	0	0	1	0	0	0	11346	1667	58	5	443	5	OSBPL10	3	31712335	Missense_Mutation	SNP	T	TCGA-CV-6938-01A-11D-1912-08		31712335	166310095	34	45454											
CTNNB1	1499	broad.mit.edu	37	chr3	41275708	41275708	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcagggtgccattccaCgactagttcagttgcttgtt	7	13	12	9	1	1	1	1	1	0	0	2	2	2	1	2	1	3	5	2	1	1	6			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:41275708C>T	ENST00000349496.5	+	10	1883	c.1603C>T	c.(1603-1605)Cga>Tga	p.R535*	CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.R535*|CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.R535*|CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.R528*|CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.R535*	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	535					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGCCATTCCACGACTAGTTCA	0.488		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				12	81					0	0	0	0	T	41275708	C	T	41275708	4	4	253	1	0	0	0	0	0	1	0	0	4048	528	19	1	1637	1	CTNNB1	3	41275708	Nonsense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	9563373	41275708	156746722	35	45455											
CTNNB1	1499	broad.mit.edu	37	chr3	41277959	41277960	+	Frame_Shift_Del	DEL	AG	AG	-																															ggagccacagctcctctgacAgagttacttcactctaggaa																										TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:41277959_41277960delAG	ENST00000349496.5	+	12	2203_2204	c.1923_1924delAG	c.(1921-1926)acagfs	p.TE641fs	CTNNB1_ENST00000396185.3_Frame_Shift_Del_p.TE641fs|CTNNB1_ENST00000405570.1_Frame_Shift_Del_p.TE641fs|CTNNB1_ENST00000396183.3_Frame_Shift_Del_p.TE641fs|CTNNB1_ENST00000453024.1_Frame_Shift_Del_p.TE634fs	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	641					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.E632_S681>SV(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTCCTCTGACAGAGTTACTTCA	0.465		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				14	112	---	---	---	---					-	41277960	AG	-	41277959	7	5	253	1	0	1	0	1	0	0	0	0	4048	175	7	0	1965	0	CTNNB1	3	41277959	Frame_Shift_Del	DEL	AG	TCGA-CV-6938-01A-11D-1912-08	2251	41277959	156744471	36	45456											
RTP3	83597	broad.mit.edu	37	chr3	46539589	46539589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtggaagcaaatgtttCaggagttaatgcgggaggtg	12	10	16	3	1	1	0	1	0	0	0	1	3	1	3	0	4	2	3	0	4	4	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:46539589C>A	ENST00000296142.3	+	1	609	c.37C>A	c.(37-39)Cag>Aag	p.Q13K		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	13					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		GCAAATGTTTCAGGAGTTAAT	0.587													9	73					5.4927e-09	7.29148e-09	1	0	A	46539589	C	A	46539589	3	1	253	1	0	0	0	0	1	0	0	0	13820	827	29	2	39	2	RTP3	3	46539589	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	5261630	46539589	151482841	37	45457											
USP19	10869	broad.mit.edu	37	chr3	49152891	49152891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccatggaagaagtccCggagttcccgagtgttggac	9	8	12	12	2	1	1	1	0	0	1	3	5	3	4	4	3	0	2	4	3	2	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:49152891C>T	ENST00000453664.1	-	12	2156	c.1838G>A	c.(1837-1839)cGg>cAg	p.R613Q	USP19_ENST00000417901.1_Missense_Mutation_p.R625Q|USP19_ENST00000398896.1_Missense_Mutation_p.R330Q|USP19_ENST00000398898.2_Missense_Mutation_p.R562Q|USP19_ENST00000434032.2_Missense_Mutation_p.R623Q|USP19_ENST00000398888.2_Missense_Mutation_p.R522Q|USP19_ENST00000398892.3_Missense_Mutation_p.R562Q	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	522					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.R610L(1)|p.R623L(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAAGAAGTCCCGGAGTTCCCG	0.542													13	73					0	0	0	0	T	49152891	C	T	49152891	3	4	253	1	0	0	0	0	1	0	0	0	17146	652	23	1	2455	1	USP19	3	49152891	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	2613302	49152891	148869539	38	45458											
CD80	941	broad.mit.edu	37	chr3	119263487	119263487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactcgtatgtgccctcgtCagatgggcgcagagccagga	9	7	13	12	3	1	2	1	0	0	2	3	3	1	3	2	2	2	2	2	2	1	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:119263487C>A	ENST00000264246.3	-	3	690	c.328G>T	c.(328-330)Gac>Tac	p.D110Y	CD80_ENST00000478182.1_Missense_Mutation_p.D110Y|CD80_ENST00000383668.3_Missense_Mutation_p.D110Y|CD80_ENST00000383669.3_Missense_Mutation_p.D110Y	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	110	Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	GTGCCCTCGTCAGATGGGCGC	0.483													10	86					0.000673444	0.000854032	1	0	A	119263487	C	A	119263487	3	1	253	1	0	0	0	0	1	0	0	0	3067	826	29	2	554	2	CD80	3	119263487	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	70110596	119263487	78758943	39	45459											
POLQ	10721	broad.mit.edu	37	chr3	121208599	121208599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatggattctacacgctccaGagtctttcagggggctgctg	8	11	12	10	1	3	1	1	0	2	1	4	2	4	2	1	3	2	3	1	3	2	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:121208599G>A	ENST00000264233.5	-	16	3307	c.3179C>T	c.(3178-3180)tCt>tTt	p.S1060F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1060					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACACGCTCCAGAGTCTTTCAG	0.408								DNA polymerases (catalytic subunits)					10	128					0	0	0	0	A	121208599	G	A	121208599	3	1	253	1	0	0	0	0	1	0	0	0	12280	942	33	2	4653	2	POLQ	3	121208599	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	1945112	121208599	76813831	40	45460											
SEMA5B	54437	broad.mit.edu	37	chr3	122642482	122642482	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctggaaattggggatgggGttggctatggggagccaggc	8	8	19	6	0	0	0	0	0	0	0	0	3	0	3	2	9	1	2	2	9	2	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:122642482G>A	ENST00000195173.4	-	10	1557	c.1254C>T	c.(1252-1254)aaC>aaT	p.N418N	SEMA5B_ENST00000357599.3_Silent_p.N418N|SEMA5B_ENST00000451055.2_Silent_p.N472N			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	418	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGGGATGGGGTTGGCTATGG	0.557													13	96					0	0	0	0	A	122642482	G	A	122642482	2	1	253	1	0	0	0	0	0	0	0	1	14125	1252	44	4		4	SEMA5B	3	122642482	Silent	SNP	G	TCGA-CV-6938-01A-11D-1912-08	1433883	122642482	75379948	41	45461											
EPHB1	2047	broad.mit.edu	37	chr3	134670357	134670357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgcatctacacagagatgCgcttcactgtgagagactgc	11	9	10	11	2	2	3	1	1	1	2	3	5	2	3	0	0	3	2	0	0	1	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:134670357C>T	ENST00000398015.3	+	3	638	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	90						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CACAGAGATGCGCTTCACTGT	0.537													4	42					0	0	0	0	T	134670357	C	T	134670357	3	4	253	1	0	0	0	0	1	0	0	0	5212	768	27	1	278	1	EPHB1	3	134670357	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	12027875	134670357	63352073	42	45462											
HTRA3	94031	broad.mit.edu	37	chr4	8305956	8305956	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacccggacttcccagaggtCagcagtggaatttatgtgca	11	9	11	10	1	1	1	1	0	0	1	2	3	2	3	2	3	3	2	2	3	3	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:8305956C>G	ENST00000307358.2	+	8	1350	c.1146C>G	c.(1144-1146)gtC>gtG	p.V382V		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	382	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TCCCAGAGGTCAGCAGTGGAA	0.597													9	68					0	0	0	0	G	8305956	C	G	8305956	2	3	253	1	0	0	0	0	0	0	0	1	7508	813	29	2		2	HTRA3	4	8305956	Silent	SNP	C	TCGA-CV-6938-01A-11D-1912-08		8305956	182848320	43	45463											
UGT2B4	7363	broad.mit.edu	37	chr4	70352332	70352332	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcagagacttaccaagaAgatcattctggggtatccac	12	11	8	10	0	4	3	2	0	2	3	5	4	5	3	2	2	1	1	2	2	4	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:70352332A>G	ENST00000305107.6	-	4	1131	c.1085T>C	c.(1084-1086)cTt>cCt	p.L362P	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.L226P|UGT2B4_ENST00000512583.1_Missense_Mutation_p.L362P	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	362					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CTTACCAAGAAGATCATTCTG	0.338													10	78					0	0	0	0	G	70352332	A	G	70352332	3	3	253	1	0	0	0	0	1	0	0	0	17057	72	3	5	513	5	UGT2B4	4	70352332	Missense_Mutation	SNP	A	TCGA-CV-6938-01A-11D-1912-08	62046376	70352332	120801944	44	45464											
ENAM	10117	broad.mit.edu	37	chr4	71510266	71510266	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcaagtccaagaaaatgaGagtgagaggcaacagcaaag	19	4	12	6	0	1	3	1	2	0	3	2	5	2	3	1	1	2	2	1	1	6	0			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:71510266G>A	ENST00000396073.3	+	9	3404	c.3123G>A	c.(3121-3123)gaG>gaA	p.E1041E	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1041					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAGAAAATGAGAGTGAGAGGC	0.448													7	57					0	0	0	0	A	71510266	G	A	71510266	2	1	253	1	0	0	0	0	0	0	0	1	5150	933	33	2		2	ENAM	4	71510266	Silent	SNP	G	TCGA-CV-6938-01A-11D-1912-08	1157934	71510266	119644010	45	45465											
USO1	8615	broad.mit.edu	37	chr4	76721831	76721831	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaatttcatagagaaactAggatttattagcaaacatga	18	11	8	4	0	1	3	1	1	0	2	1	6	1	4	0	1	3	1	0	1	7	6			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:76721831A>C	ENST00000538159.1	+	17	1770	c.1770A>C	c.(1768-1770)ctA>ctC	p.L590L	USO1_ENST00000514213.2_Silent_p.L566L			O60763	USO1_HUMAN	USO1 vesicle transport factor	581	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAGAGAAACTAGGATTTATTA	0.353													9	77					0	0	0	0	C	76721831	A	C	76721831	2	2	253	1	0	0	0	0	0	0	0	1	17135	407	15	5		5	USO1	4	76721831	Silent	SNP	A	TCGA-CV-6938-01A-11D-1912-08	5211565	76721831	114432445	46	45466											
FAT1	2195	broad.mit.edu	37	chr4	187524190	187524190	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggtgggcaccttccctcTtcattcaaagaggggagaaa	12	8	11	10	0	3	2	2	0	1	2	4	3	4	2	2	4	0	1	2	4	2	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:187524190T>C	ENST00000441802.2	-	20	11560		c.e20-2			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCTTCCCTCTTCATTCAAAG	0.483										HNSCC(5;0.00058)			21	70					0	0	0	0	C	187524190	T	C	187524190	5	2	253	1	0	0	0	0	0	0	1	0	5734	1623	56	5	2449	5	FAT1	4	187524190	Splice_Site	SNP	T	TCGA-CV-6938-01A-11D-1912-08	110802359	187524190	3630086	47	45467											
CDH10	1008	broad.mit.edu	37	chr5	24537731	24537731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaagagtaccagctccatctCcagataagatatatttgagt	15	11	7	8	0	1	4	0	1	1	3	3	4	2	4	3	0	2	2	3	0	5	5			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:24537731C>T	ENST00000264463.4	-	3	791	c.284G>A	c.(283-285)gGa>gAa	p.G95E		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	95	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTCCATCTCCAGATAAGAT	0.368										HNSCC(23;0.051)			6	57					0	0	0	0	T	24537731	C	T	24537731	3	4	253	1	0	0	0	0	1	0	0	0	3125	855	30	2	2122	2	CDH10	5	24537731	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08		24537731	156377529	48	45468											
FCHO2	115548	broad.mit.edu	37	chr5	72285313	72285313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actagcaaaatctgcaagcaAttattcacaacttgggtgag	15	10	8	8	0	2	1	1	1	1	0	2	1	2	1	0	1	4	3	0	1	7	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:72285313A>G	ENST00000430046.2	+	3	301	c.185A>G	c.(184-186)aAt>aGt	p.N62S	FCHO2_ENST00000287761.6_Missense_Mutation_p.N62S|FCHO2_ENST00000512348.1_Missense_Mutation_p.N62S|FCHO2_ENST00000341845.6_Missense_Mutation_p.N62S	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	62	FCH.									cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TCTGCAAGCAATTATTCACAA	0.348													3	11					0	0	0	0	G	72285313	A	G	72285313	3	3	253	1	0	0	0	0	1	0	0	0	5833	101	4	5	195	5	FCHO2	5	72285313	Missense_Mutation	SNP	A	TCGA-CV-6938-01A-11D-1912-08	47747582	72285313	108629947	49	45469											
VCAN	1462	broad.mit.edu	37	chr5	82817330	82817330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactggatgaacaagagggcGatggatcagcatatacagtc	14	7	12	8	1	1	2	1	1	0	1	2	5	1	4	0	3	3	1	0	3	4	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:82817330G>A	ENST00000265077.3	+	7	3770	c.3205G>A	c.(3205-3207)Gat>Aat	p.D1069N	VCAN_ENST00000342785.4_Missense_Mutation_p.D1069N|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.D1021N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1069	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACAAGAGGGCGATGGATCAGC	0.463													10	53					0	0	0	0	A	82817330	G	A	82817330	3	1	253	1	0	0	0	0	1	0	0	0	17234	1058	37	1	3227	1	VCAN	5	82817330	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	10532017	82817330	98097930	50	45470											
GPR98	84059	broad.mit.edu	37	chr5	90074703	90074703	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacatcacaatcatccgtTccagtggagattttggccat	11	13	7	10	1	2	1	2	0	0	1	4	2	4	1	3	2	1	1	3	2	2	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:90074703T>C	ENST00000405460.2	+	64	12967	c.12871T>C	c.(12871-12873)Tcc>Ccc	p.S4291P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4291					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATCATCCGTTCCAGTGGAGA	0.433													16	150					0	0	0	0	C	90074703	T	C	90074703	3	2	253	1	0	0	0	0	1	0	0	0	6771	1783	62	5	13125	5	GPR98	5	90074703	Missense_Mutation	SNP	T	TCGA-CV-6938-01A-11D-1912-08	7257373	90074703	90840557	51	45471											
AP3S1	1176	broad.mit.edu	37	chr5	115205749	115205749	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacaacaaactgatttataGacattatgcaacgttatatt	16	14	5	6	1	0	3	0	2	0	1	0	3	0	3	0	0	4	2	0	0	8	7			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:115205749G>C	ENST00000316788.7	+	3	754	c.197G>C	c.(196-198)aGa>aCa	p.R66T		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	66					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	p.R66T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		CTGATTTATAGACATTATGCA	0.303													3	81					0	0	0	0	C	115205749	G	C	115205749	3	2	253	1	0	0	0	0	1	0	0	0	750	942	33	2	207	2	AP3S1	5	115205749	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	25131046	115205749	65709511	52	45472											
IL3	3562	broad.mit.edu	37	chr5	131396411	131396411	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccaaacatgagccgcctGcccgtcctgctcctgctcca	7	8	8	18	2	0	1	0	1	0	0	4	2	4	1	7	0	5	2	7	0	1	0			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:131396411G>T	ENST00000296870.2	+	1	190	c.12G>T	c.(10-12)ctG>ctT	p.L4L		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3 (colony-stimulating factor, multiple)	4					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	TGAGCCGCCTGCCCGTCCTGC	0.587													4	56					0.00024832	0.000316678	1	0	T	131396411	G	T	131396411	2	4	253	1	0	0	0	0	0	0	0	1	7742	1306	46	4		4	IL3	5	131396411	Silent	SNP	G	TCGA-CV-6938-01A-11D-1912-08	16190662	131396411	49518849	53	45473											
PCDHA9	9752	broad.mit.edu	37	chr5	140229894	140229894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgactcgggctacaacgCgtggctttcatacgagctgc	7	8	12	14	6	1	0	1	0	0	0	2	2	1	0	1	2	5	3	1	2	3	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:140229894C>T	ENST00000378122.3	+	1	2538	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V	PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A605V|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTACAACGCGTGGCTTTCA	0.682													9	91					0	0	0	0	T	140229894	C	T	140229894	3	4	253	1	0	0	0	0	1	0	0	0	11602	768	27	1	1816	1	PCDHA9	5	140229894	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	8833483	140229894	40685366	54	45474											
PCDHA11	56138	broad.mit.edu	37	chr5	140250227	140250227	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcggtgcacgcggagagCggcaaggtgtacgcgctgca	7	6	18	10	6	0	1	0	0	0	1	1	2	0	1	0	4	4	5	0	4	2	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:140250227C>T	ENST00000398640.2	+	1	1539	c.1539C>T	c.(1537-1539)agC>agT	p.S513S	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGAGAGCGGCAAGGTGT	0.697													26	180					0	0	0	0	T	140250227	C	T	140250227	2	4	253	1	0	0	0	0	0	0	0	1	11592	767	27	1		1	PCDHA11	5	140250227	Silent	SNP	C	TCGA-CV-6938-01A-11D-1912-08	20333	140250227	40665033	55	45475											
PDGFRB	5159	broad.mit.edu	37	chr5	149501528	149501528	+	Frame_Shift_Del	DEL	G	G	-																															tctcctttcatgtccagcatGggcacatagtccaccgactc																										TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:149501528delG	ENST00000261799.4	-	16	2728	c.2259delC	c.(2257-2259)ccfs	p.P753fs		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	753	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCCAGCATGGGCACATAGT	0.542			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								13	66	---	---	---	---					-	149501528	G	-	149501528	7	5	253	1	0	1	0	1	0	0	0	0	11733	1335	47	0	1093	0	PDGFRB	5	149501528	Frame_Shift_Del	DEL	G	TCGA-CV-6938-01A-11D-1912-08	9251301	149501528	31413732	56	45476											
HAVCR1	26762	broad.mit.edu	37	chr5	156479608	156479608	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgttggaacagtggtgctcGttcgaacagtcgtgacggtt	7	12	14	8	5	0	1	0	1	0	0	4	3	0	2	0	3	3	4	0	3	2	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:156479608G>C	ENST00000339252.3	-	3	969	c.437C>G	c.(436-438)aCg>aGg	p.T146R	HAVCR1_ENST00000425854.1_Missense_Mutation_p.T146R|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T146R|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T146R|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T146R	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	146	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTGGTGCTCGTTCGAACAGT	0.468													60	469					0	0	0	0	C	156479608	G	C	156479608	3	2	253	1	0	0	0	0	1	0	0	0	7023	1145	40	3	681	3	HAVCR1	5	156479608	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	6978080	156479608	24435652	57	45477											
EBF1	1879	broad.mit.edu	37	chr5	158522653	158522653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcatggagtcaatgaggCgcacgtagaaatcctgctcc	10	10	11	10	2	2	2	2	1	0	1	4	3	4	3	2	2	1	3	2	2	3	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:158522653C>T	ENST00000313708.6	-	4	668	c.386G>A	c.(385-387)cGc>cAc	p.R129H	EBF1_ENST00000380654.4_Missense_Mutation_p.R129H|EBF1_ENST00000517373.1_Missense_Mutation_p.R129H|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	129					multicellular organismal development	nucleus	DNA binding|metal ion binding	p.R129H(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCAATGAGGCGCACGTAGAA	0.483			T	HMGA2	lipoma								15	72					0	0	0	0	T	158522653	C	T	158522653	3	4	253	1	0	0	0	0	1	0	0	0	4916	768	27	1	1441	1	EBF1	5	158522653	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	2043045	158522653	22392607	58	45478											
NUP153	9972	broad.mit.edu	37	chr6	17669742	17669742	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaccgtaagattgtgcactGagttgcttagctttcatttg	9	15	9	8	1	1	2	1	1	0	1	1	2	1	2	1	0	3	5	1	0	2	6	rs149307511	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:17669742G>C	ENST00000262077.2	-	6	887	c.888C>G	c.(886-888)ctC>ctG	p.L296L	NUP153_ENST00000537253.1_Silent_p.L296L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	296					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ATTGTGCACTGAGTTGCTTAG	0.383													5	36					0	0	0	0	C	17669742	G	C	17669742	2	2	253	1	0	0	0	0	0	0	0	1	10826	1277	45	2		2	NUP153	6	17669742	Silent	SNP	G	TCGA-CV-6938-01A-11D-1912-08		17669742	153445325	59	45479											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726614	25726614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccgccaaatacactggtgCgcctgcccctatccgctctg	6	9	9	17	3	1	0	0	0	1	0	2	0	2	0	6	1	4	1	6	1	3	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:25726614C>T	ENST00000297012.3	-	1	176	c.142G>A	c.(142-144)Gca>Aca	p.A48T		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	48					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TACACTGGTGCGCCTGCCCCT	0.517													4	65					0	0	0	0	T	25726614	C	T	25726614	3	4	253	1	0	0	0	0	1	0	0	0	7178	768	27	1	257	1	HIST1H2AA	6	25726614	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	8056872	25726614	145388453	60	45480											
HIST1H4E	8367	broad.mit.edu	37	chr6	26205053	26205053	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agactcgcggggttctgaagGtgtttctggaaaacgtgatt	9	12	14	6	3	2	3	0	2	2	1	3	4	2	4	0	4	1	2	0	4	3	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:26205053G>C	ENST00000360441.4	+	1	196	c.181G>C	c.(181-183)Gtg>Ctg	p.V61L		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	61					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GGTTCTGAAGGTGTTTCTGGA	0.567													9	87					0	0	0	0	C	26205053	G	C	26205053	3	2	253	1	0	0	0	0	1	0	0	0	7219	1261	44	4	183	4	HIST1H4E	6	26205053	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	478439	26205053	144910014	61	45481											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834947	27834947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctgccttcttggctttggGcttggcttccccggaggccg	1	12	14	14	2	1	0	0	0	1	0	2	1	2	1	5	5	1	3	5	5	0	5			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:27834947G>C	ENST00000331442.3	-	1	412	c.361C>G	c.(361-363)Ccc>Gcc	p.P121A		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	121					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGGCTTTGGGCTTGGCTTCC	0.597													27	181					0	0	0	0	C	27834947	G	C	27834947	3	2	253	1	0	0	0	0	1	0	0	0	7173	1203	42	4	323	4	HIST1H1B	6	27834947	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	1629894	27834947	143280120	62	45482											
TBCC	6903	broad.mit.edu	37	chr6	42712835	42712836	+	Frame_Shift_Ins	INS	-	-	G																															gtttggggaggccatatcccINSgggccagccagttaaaatcg																										TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:42712835_42712836insG	ENST00000244625.2	-	2	1539_1540	c.976_977insC	c.(976-978)ggafs	p.G326fs	TBCC_ENST00000372876.1_Frame_Shift_Ins_p.G326fs			Q15814	TBCC_HUMAN	tubulin folding cofactor C	326					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			GGCCATATCCCGGGCCAGCCAG	0.485													9	60	---	---	---	---					G	42712836	-	G	42712835	7	5	253	1	0	1	1	0	0	0	0	0	15725	652	23	0	67	0	TBCC	6	42712835	Frame_Shift_Ins	INS	-	TCGA-CV-6938-01A-11D-1912-08	14877888	42712835	128402232	63	45483											
DST	667	broad.mit.edu	37	chr6	56765371	56765371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccagacgggcagctgCggccgctgcaactcgtcttc	5	10	11	15	4	2	1	0	0	2	1	5	1	3	1	2	2	4	4	2	2	1	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:56765371C>T	ENST00000370754.5	-	3	264	c.265G>A	c.(265-267)Gca>Aca	p.A89T				Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGGGCAGCTGCGGCCGCTGCA	0.507													11	71					0	0	0	0	T	56765371	C	T	56765371	3	4	253	1	0	0	0	0	1	0	0	0	4819	783	27	1		1	DST	6	56765371	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	14052536	56765371	114349696	64	45484											
KPNA5	3841	broad.mit.edu	37	chr6	117050816	117050816	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtggctttaaatggactTgaaaatattttacgtcttgg	12	15	9	5	1	1	1	0	1	1	0	1	2	1	2	0	3	1	1	0	3	7	7			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:117050816T>C	ENST00000368564.1	+	13	1492	c.1344T>C	c.(1342-1344)ctT>ctC	p.L448L	KPNA5_ENST00000356348.1_Silent_p.L448L			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	445					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TAAATGGACTTGAAAATATTT	0.363													16	120					0	0	0	0	C	117050816	T	C	117050816	2	2	253	1	0	0	0	0	0	0	0	1	8485	1799	63	5		5	KPNA5	6	117050816	Silent	SNP	T	TCGA-CV-6938-01A-11D-1912-08	60285445	117050816	54064251	65	45485											
HDDC2	51020	broad.mit.edu	37	chr6	125619867	125619867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcaacactgacctcttctCgcctatgtttttcttctttg	6	18	5	12	1	5	1	1	1	4	0	6	1	5	1	2	0	1	1	2	0	2	6			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:125619867C>T	ENST00000398153.1	-	3	505	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	HDDC2_ENST00000368377.4_Intron	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	101	HD.						metal ion binding|phosphoric diester hydrolase activity	p.R101P(2)		endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GACCTCTTCTCGCCTATGTTT	0.443													4	43					0	0	0	0	T	125619867	C	T	125619867	3	4	253	1	0	0	0	0	1	0	0	0	7066	884	31	1	328	1	HDDC2	6	125619867	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	8569051	125619867	45495200	66	45486											
SDK1	221935	broad.mit.edu	37	chr7	4014086	4014086	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacgggtcccttctcatcAgccagacgtggtcaggcgac	8	7	13	13	3	3	1	3	0	1	1	5	3	4	2	2	4	1	0	2	4	0	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:4014086A>T	ENST00000404826.2	+	13	2042	c.1903A>T	c.(1903-1905)Agc>Tgc	p.S635C	SDK1_ENST00000389531.3_Missense_Mutation_p.S635C	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	635	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTTCTCATCAGCCAGACGTG	0.562													11	49					0	0	0	0	T	4014086	A	T	4014086	3	4	253	1	0	0	0	0	1	0	0	0	14055	188	7	5	1953	5	SDK1	7	4014086	Missense_Mutation	SNP	A	TCGA-CV-6938-01A-11D-1912-08		4014086	155124577	67	45487											
NEUROD6	63974	broad.mit.edu	37	chr7	31377952	31377952	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtcgtaagggaagtggctgtCggtgggcaacctgaacatgg	9	8	17	7	2	0	1	0	1	0	0	2	2	0	2	1	5	2	3	1	5	4	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:31377952C>G	ENST00000297142.3	-	2	1253	c.931G>C	c.(931-933)Gac>Cac	p.D311H		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	311					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AAGTGGCTGTCGGTGGGCAAC	0.448													8	71					0	0	0	0	G	31377952	C	G	31377952	3	3	253	1	0	0	0	0	1	0	0	0	10421	884	31	3	86	3	NEUROD6	7	31377952	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	27363866	31377952	127760711	68	45488											
ASB4	51666	broad.mit.edu	37	chr7	95157420	95157420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccctccacaaggcagcctgGaactgtgaccacgtgctcat	9	7	9	16	1	1	1	1	1	0	0	2	2	2	2	5	2	3	2	5	2	2	0			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:95157420G>C	ENST00000325885.5	+	3	854	c.783G>C	c.(781-783)tgG>tgC	p.W261C	ASB4_ENST00000428113.1_Missense_Mutation_p.W261C	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	261					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AGGCAGCCTGGAACTGTGACC	0.562											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	66					0	0	0	0	C	95157420	G	C	95157420	3	2	253	1	0	0	0	0	1	0	0	0	1029	1183	41	2	793	2	ASB4	7	95157420	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	63779468	95157420	63981243	69	45489											
PIK3CG	5294	broad.mit.edu	37	chr7	106509928	106509928	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctcagatgaaaatgtaaGagccattgcagttcagaaac	15	10	8	8	0	2	4	2	1	1	3	3	4	2	4	1	0	3	3	1	0	4	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:106509928G>C	ENST00000359195.3	+	2	2232	c.1922G>C	c.(1921-1923)aGa>aCa	p.R641T	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R641T|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R641T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	641					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GAAAATGTAAGAGCCATTGCA	0.453													5	67					0	0	0	0	C	106509928	G	C	106509928	3	2	253	1	0	0	0	0	1	0	0	0	11988	942	33	2	1924	2	PIK3CG	7	106509928	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	11352508	106509928	52628735	70	45490											
CNOT4	4850	broad.mit.edu	37	chr7	135047645	135047645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcctctttgcctaatggcGgtccagtgttgaactctgta	6	14	10	11	1	2	1	0	1	2	0	4	1	4	1	3	2	2	3	3	2	3	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:135047645G>A	ENST00000541284.1	-	12	2464	c.2134C>T	c.(2134-2136)Cgc>Tgc	p.R712C	CNOT4_ENST00000361528.4_Missense_Mutation_p.R638C|CNOT4_ENST00000423368.2_Missense_Mutation_p.R641C|CNOT4_ENST00000451834.1_Missense_Mutation_p.R709C	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GCCTAATGGCGGTCCAGTGTT	0.527													45	399					0	0	0	0	A	135047645	G	A	135047645	3	1	253	1	0	0	0	0	1	0	0	0	3651	1116	39	1	11	1	CNOT4	7	135047645	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	28537717	135047645	24091018	71	45491											
EPHA1	2041	broad.mit.edu	37	chr7	143088618	143088618	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagtgtgattcccatctGcgtcaggtccctgtgggcaa	6	10	14	11	1	2	1	1	1	1	0	4	1	4	1	2	3	1	2	2	3	1	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:143088618G>A	ENST00000275815.3	-	18	2949	c.2863C>T	c.(2863-2865)Cag>Tag	p.Q955*		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	955	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATTCCCATCTGCGTCAGGTCC	0.622													6	33					0	0	0	0	A	143088618	G	A	143088618	4	1	253	1	0	0	0	0	0	1	0	0	5203	1328	46	4	71	4	EPHA1	7	143088618	Nonsense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	8040973	143088618	16050045	72	45492											
DPP6	1804	broad.mit.edu	37	chr7	154561208	154561208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgccatcaatgattcccGtgtccccatcatggagctcc	7	9	8	17	3	2	1	2	1	0	0	5	2	5	2	6	1	1	1	6	1	1	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:154561208G>A	ENST00000404039.1	+	9	1360	c.773G>A	c.(772-774)cGt>cAt	p.R258H	DPP6_ENST00000332007.3_Missense_Mutation_p.R260H|DPP6_ENST00000427557.1_Missense_Mutation_p.R215H|DPP6_ENST00000377770.3_Missense_Mutation_p.R322H	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	322					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AATGATTCCCGTGTCCCCATC	0.552													7	52					0	0	0	0	A	154561208	G	A	154561208	3	1	253	1	0	0	0	0	1	0	0	0	4766	1145	40	1	1115	1	DPP6	7	154561208	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	11472590	154561208	4577455	73	45493											
ADAM7	8756	broad.mit.edu	37	chr8	24333985	24333985	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaataaactaaggaacCgaatttggggaatggtcaat	16	9	9	7	1	2	0	2	0	0	0	2	3	2	2	1	4	2	0	1	4	8	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:24333985C>T	ENST00000175238.6	+	8	756	c.673C>T	c.(673-675)Cga>Tga	p.R225*	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.R225*|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_5'UTR	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	225	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTAAGGAACCGAATTTGGGG	0.328													5	43					0	0	0	0	T	24333985	C	T	24333985	4	4	253	1	0	0	0	0	0	1	0	0	251	644	23	1	703	1	ADAM7	8	24333985	Nonsense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08		24333985	122030037	74	45494											
NEFL	4747	broad.mit.edu	37	chr8	24811239	24811239	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaagacctgggagctctGggagtagccactggttatgc	9	8	14	10	0	1	1	0	0	1	1	1	3	1	3	3	3	3	3	3	3	3	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:24811239G>T	ENST00000221169.5	-	0	1834							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGGGAGCTCTGGGAGTAGCCA	0.562													12	80					1.61879e-10	2.1873e-10	1	0	T	24811239	G	T	24811239	1	4	253	0	1	0	0	0	0	0	0	0	10385	1357	47	4		4	NEFL	8	24811239	RNA	SNP	G	TCGA-CV-6938-01A-11D-1912-08	477254	24811239	121552783	75	45495											
POTEA	340441	broad.mit.edu	37	chr8	43152233	43152233	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgctggacagacaatgtCaacttcatgtctttgacagc	10	13	8	10	0	4	2	2	1	2	1	4	3	4	3	0	1	3	1	0	1	2	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:43152233C>G	ENST00000522175.2	+	0	372							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGACAATGTCAACTTCATGT	0.388													5	111					0	0	0	0	G	43152233	C	G	43152233	1	3	253	0	1	0	0	0	0	0	0	0	12333	827	29	2		2	POTEA	8	43152233	RNA	SNP	C	TCGA-CV-6938-01A-11D-1912-08	18340994	43152233	103211789	76	45496											
PRKDC	5591	broad.mit.edu	37	chr8	48733339	48733339	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgtcaacatcatcttGcaggaggtaaagcagactca	12	9	10	10	0	5	1	3	0	2	1	5	2	5	2	0	3	3	4	0	3	3	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:48733339G>A	ENST00000314191.2	-	67	9330	c.9274C>T	c.(9274-9276)Caa>Taa	p.Q3092*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q3092*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3093	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACATCATCTTGCAGGAGGTAA	0.378								Non-homologous end-joining					7	21					0	0	0	0	A	48733339	G	A	48733339	4	1	253	1	0	0	0	0	0	1	0	0	12601	1328	46	4	3193	4	PRKDC	8	48733339	Nonsense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	5581106	48733339	97630683	77	45497											
TRPA1	8989	broad.mit.edu	37	chr8	72951161	72951161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgccagttgagttgaaaGccattcctggttttatattg	9	16	10	6	0	0	3	0	3	0	0	1	3	1	3	3	1	2	3	3	1	3	7			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:72951161G>T	ENST00000262209.4	-	19	2441	c.2234C>A	c.(2233-2235)gCt>gAt	p.A745D	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	745						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGAGTTGAAAGCCATTCCTGG	0.328													10	73					2.74318e-10	3.68463e-10	1	0	T	72951161	G	T	72951161	3	4	253	1	0	0	0	0	1	0	0	0	16672	971	34	4	1161	4	TRPA1	8	72951161	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	24217822	72951161	73412861	78	45498											
PLEC	5339	broad.mit.edu	37	chr8	145003892	145003892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagccatcagccggtcctCgggtccgaagccgcccgcgt	5	6	12	18	6	2	0	2	0	0	0	5	1	4	0	6	2	3	0	6	2	1	0			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:145003892C>T	ENST00000322810.4	-	23	3425	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K	PLEC_ENST00000436759.2_Missense_Mutation_p.E976K|PLEC_ENST00000527096.1_Missense_Mutation_p.E972K|PLEC_ENST00000398774.2_Missense_Mutation_p.E917K|PLEC_ENST00000345136.3_Missense_Mutation_p.E949K|PLEC_ENST00000354958.2_Missense_Mutation_p.E927K|PLEC_ENST00000356346.3_Missense_Mutation_p.E935K|PLEC_ENST00000354589.3_Missense_Mutation_p.E949K|PLEC_ENST00000357649.2_Missense_Mutation_p.E953K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1086	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCCGGTCCTCGGGTCCGAAG	0.692													10	21					0	0	0	0	T	145003892	C	T	145003892	3	4	253	1	0	0	0	0	1	0	0	0	12124	893	31	1	10838	1	PLEC	8	145003892	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	72052731	145003892	1360130	79	45499											
SPTAN1	6709	broad.mit.edu	37	chr9	131348167	131348167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtactttgctgatgctaacGaggctgaatcctggatgcgg	9	11	13	8	2	0	2	0	2	0	0	1	4	1	3	1	3	5	4	1	3	3	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:131348167G>A	ENST00000358161.5	+	19	2814	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E901K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E901K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	901					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGATGCTAACGAGGCTGAATC	0.572													10	79					0	0	0	0	A	131348167	G	A	131348167	3	1	253	1	0	0	0	0	1	0	0	0	15207	1059	37	1	2771	1	SPTAN1	9	131348167	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08		131348167	9865264	80	45500											
PPAPDC3	84814	broad.mit.edu	37	chr9	134165490	134165490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggggggcccggagcccCgcagctcgggcagaaaggcc	8	1	17	15	3	0	1	0	0	0	1	1	2	0	2	5	6	2	3	5	6	2	0			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:134165490C>T	ENST00000372264.3	+	1	410	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.R36C	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	36						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCCGGAGCCCCGCAGCTCGGG	0.706													9	23					0	0	0	0	T	134165490	C	T	134165490	3	4	253	1	0	0	0	0	1	0	0	0	12367	652	23	1	108	1	PPAPDC3	9	134165490	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	2817323	134165490	7047941	81	45501											
NOTCH1	4851	broad.mit.edu	37	chr9	139402475	139402475	+	Frame_Shift_Del	DEL	C	C	-																															gcaggggctgggtgagcactCgtccaccaggtcctcacagt																										TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:139402475delC	ENST00000277541.6	-	21	3517	c.3442delG	c.(3442-3444)agfs	p.E1148fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1148	EGF-like 30.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTGAGCACTCGTCCACCAGG	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			9	91	---	---	---	---					-	139402475	C	-	139402475	7	5	253	1	0	1	0	1	0	0	0	0	10617	893	31	0	4281	0	NOTCH1	9	139402475	Frame_Shift_Del	DEL	C	TCGA-CV-6938-01A-11D-1912-08	5236985	139402475	1810956	82	45502											
KIAA1984	84960	broad.mit.edu	37	chr9	139694847	139694847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtccgccccagatcatcCgccagctggagaacaacatc	10	6	9	16	3	1	2	1	0	0	2	5	3	3	2	5	2	3	1	5	2	2	0			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:139694847C>T	ENST00000338005.6	+	5	480	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	149										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCAGATCATCCGCCAGCTGGA	0.592													3	17					0	0	0	0	T	139694847	C	T	139694847	3	4	253	1	0	0	0	0	1	0	0	0	8317	652	23	1	463	1	KIAA1984	9	139694847	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	292372	139694847	1518584	83	45503											
LCNL1	401562	broad.mit.edu	37	chr9	139878139	139878139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggggaatggtgacctggCcctcaagtttggatacccca	8	10	12	11	0	1	1	1	1	0	0	1	3	1	3	4	5	1	1	4	5	3	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:139878139C>T	ENST00000408973.2	+	1	695	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	34							binding										GGTGACCTGGCCCTCAAGTTT	0.572													10	108					0	0	0	0	T	139878139	C	T	139878139	3	4	253	1	0	0	0	0	1	0	0	0	8741	739	26	4	103	4	LCNL1	9	139878139	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	183292	139878139	1335292	84	45504											
ADAMTS14	140766	broad.mit.edu	37	chr10	72489916	72489916	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggagcaggtgtgtcgctGggcacactcccagcagcgcc	6	6	14	15	2	0	0	0	0	0	0	2	1	1	1	3	3	3	4	3	3	0	0			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr10:72489916G>A	ENST00000373208.1	+	6	1013	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*	ADAMTS14_ENST00000373207.1_Nonsense_Mutation_p.W338*	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	338	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GTGTGTCGCTGGGCACACTCC	0.662													10	74					0	0	0	0	A	72489916	G	A	72489916	4	1	253	1	0	0	0	0	0	1	0	0	259	1357	47	4	1035	4	ADAMTS14	10	72489916	Nonsense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08		72489916	63044831	85	45505											
NOC3L	64318	broad.mit.edu	37	chr10	96117971	96117972	+	Splice_Site	INS	-	-	T																															cttccctctcaatccttttaINScctgtaccacacacacacac																										TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr10:96117971_96117972insT	ENST00000371361.3	-	3	318_319	c.217_splice	c.e3-1	p.E73_splice	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Splice_Site_p.E73_splice	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	73						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CAATCCTTTTACCTGTACCACA	0.376													7	94	---	---	---	---					T	96117972	-	T	96117971	8	5	253	1	0	1	1	0	0	0	1	0	10584	405	14	0	2259	0	NOC3L	10	96117971	Splice_Site	INS	-	TCGA-CV-6938-01A-11D-1912-08	23628055	96117971	39416776	86	45506											
LBX1	10660	broad.mit.edu	37	chr10	102988336	102988336	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagcggcgaggtctgcgaGagcagcgcgcggcccgccag	7	2	17	15	7	1	1	0	0	1	1	1	3	1	1	2	3	4	1	2	3	0	0			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr10:102988336G>C	ENST00000370193.2	-	1	1215	c.237C>G	c.(235-237)ctC>ctG	p.L79L		NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	79					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		AGGTCTGCGAGAGCAGCGCGC	0.711													2	6					0	0	0	0	C	102988336	G	C	102988336	2	2	253	1	0	0	0	0	0	0	0	1	8706	929	33	2		2	LBX1	10	102988336	Silent	SNP	G	TCGA-CV-6938-01A-11D-1912-08	6870365	102988336	32546411	87	45507											
HRAS	3265	broad.mit.edu	37	chr11	534288	534288	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcactcttgcccacaccgCcggcgcccaccaccaccagc	7	3	8	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	1	7	1	0	1	rs104894230		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:534288C>G	ENST00000417302.1	-	2	222	c.35G>C	c.(34-36)gGc>gCc	p.G12A	HRAS_ENST00000311189.7_Missense_Mutation_p.G12A|HRAS_ENST00000397596.2_Missense_Mutation_p.G12A|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12A|HRAS_ENST00000451590.1_Missense_Mutation_p.G12A	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			9	46					0	0	0	0	G	534288	C	G	534288	3	3	253	1	0	0	0	0	1	0	0	0	7398	739	26	4	617	4	HRAS	11	534288	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08		534288	134472228	88	45508											
OR56B1	387748	broad.mit.edu	37	chr11	5758256	5758256	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcactccagtgcctgtGcttgcagcacagcgtgatta	7	13	10	11	1	1	1	1	1	0	0	2	1	2	1	2	0	5	3	2	0	1	3	rs149260229	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:5758256G>T	ENST00000317121.3	+	1	576	c.510G>T	c.(508-510)gtG>gtT	p.V170V	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CAGTGCCTGTGCTTGCAGCAC	0.473													17	88					1.15088e-07	1.50143e-07	1	0	T	5758256	G	T	5758256	2	4	253	1	0	0	0	0	0	0	0	1	11208	1306	46	4		4	OR56B1	11	5758256	Silent	SNP	G	TCGA-CV-6938-01A-11D-1912-08	5223968	5758256	129248260	89	45509											
LMO1	4004	broad.mit.edu	37	chr11	8252036	8252036	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcttccctttgggctggacgGagagcatcggcacgcctgca	6	8	14	13	3	0	1	0	0	0	1	2	3	1	2	2	4	2	5	2	4	0	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:8252036G>C	ENST00000335790.3	-	2	536	c.41C>G	c.(40-42)tCc>tGc	p.S14C	LMO1_ENST00000534484.1_Missense_Mutation_p.S3C|LMO1_ENST00000428101.2_Missense_Mutation_p.S13C	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	14					cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		GGGCTGGACGGAGAGCATCGG	0.592			"T, A"	TRD@	"T-ALL, neuroblastoma"	neuroblastoma							15	143					0	0	0	0	C	8252036	G	C	8252036	3	2	253	1	0	0	0	0	1	0	0	0	8906	1174	41	2	441	2	LMO1	11	8252036	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	2493780	8252036	126754480	90	45510											
DCDC1	341019	broad.mit.edu	37	chr11	30914379	30914379	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttacctctgaaatagtttTgccccaggcataagtgccat	11	13	7	10	0	1	1	0	1	1	0	1	1	1	1	4	1	3	2	4	1	4	6			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:30914379T>A	ENST00000597505.1	-	34	5058	c.5059A>T	c.(5059-5061)Aaa>Taa	p.K1687*	DCDC1_ENST00000406071.2_Nonsense_Mutation_p.K425*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	193					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GAAATAGTTTTGCCCCAGGCA	0.428													22	85					0	0	0	0	A	30914379	T	A	30914379	4	1	253	1	0	0	0	0	0	1	0	0	4316	1827	63	5		5	DCDC1	11	30914379	Nonsense_Mutation	SNP	T	TCGA-CV-6938-01A-11D-1912-08	22662343	30914379	104092137	91	45511											
OR4C11	219429	broad.mit.edu	37	chr11	55371657	55371657	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaagaatctgcaaaggAcaaataaaatagaaagaagt	24	5	8	4	0	1	3	0	0	1	3	1	4	1	4	0	1	2	2	0	1	10	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:55371657A>G	ENST00000302231.4	-	1	217	c.193T>C	c.(193-195)Tcc>Ccc	p.S65P		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TCTGCAAAGGACAAATAAAAT	0.403													9	84					0	0	0	0	G	55371657	A	G	55371657	3	3	253	1	0	0	0	0	1	0	0	0	11116	275	10	5	741	5	OR4C11	11	55371657	Missense_Mutation	SNP	A	TCGA-CV-6938-01A-11D-1912-08	24457278	55371657	79634859	92	45512											
SLC22A10	387775	broad.mit.edu	37	chr11	63066443	63066443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaccaataaactagatgaGggcttaaaggcacttagaaa	18	8	8	7	0	1	3	1	1	0	2	1	3	1	3	1	2	1	2	1	2	8	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:63066443G>T	ENST00000544661.1	+	6	845	c.417G>T	c.(415-417)gaG>gaT	p.E139D	SLC22A10_ENST00000332793.6_Missense_Mutation_p.E294D|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.E134D|SLC22A10_ENST00000535888.1_Missense_Mutation_p.E84D			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	294						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AACTAGATGAGGGCTTAAAGG	0.413													8	61					1.12685e-05	1.45338e-05	1	0	T	63066443	G	T	63066443	3	4	253	1	0	0	0	0	1	0	0	0	14529	991	35	4	900	4	SLC22A10	11	63066443	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	7694786	63066443	71940073	93	45513											
LTBP3	4054	broad.mit.edu	37	chr11	65319552	65319552	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagggaaaagtcactctcGccctgaatggtgagcgtctg	12	8	12	9	2	3	2	1	2	2	0	4	3	3	3	1	2	1	0	1	2	5	0	rs111330939		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:65319552G>A	ENST00000301873.5	-	8	1690	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	LTBP3_ENST00000322147.4_Silent_p.G474G|LTBP3_ENST00000536982.1_Silent_p.G100G	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	474						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGTCACTCTCGCCCTGAATGG	0.597											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	136					0	0	0	0	A	65319552	G	A	65319552	2	1	253	1	0	0	0	0	0	0	0	1	9139	1074	38	1		1	LTBP3	11	65319552	Silent	SNP	G	TCGA-CV-6938-01A-11D-1912-08	2253109	65319552	69686964	94	45514											
ARRB1	408	broad.mit.edu	37	chr11	74989766	74989766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggcatactgaaccttccGgatgaccagacgcacagaat	12	7	11	11	2	0	4	0	2	0	2	1	5	1	5	3	3	2	2	3	3	3	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:74989766G>A	ENST00000420843.2	-	8	602	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	ARRB1_ENST00000360025.3_Missense_Mutation_p.R169W|ARRB1_ENST00000393505.4_Missense_Mutation_p.R169W	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	169					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TGAACCTTCCGGATGACCAGA	0.592													19	138					0	0	0	0	A	74989766	G	A	74989766	3	1	253	1	0	0	0	0	1	0	0	0	984	1115	39	1	787	1	ARRB1	11	74989766	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	9670214	74989766	60016750	95	45515											
GRM5	2915	broad.mit.edu	37	chr11	88583210	88583210	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgagcttcttcagcagctTatcaaagctctgctcccctg	7	13	8	13	0	4	1	2	1	2	0	5	1	5	1	2	0	5	5	2	0	2	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:88583210T>C	ENST00000418177.2	-	3	1142	c.775A>G	c.(775-777)Aag>Gag	p.K259E	GRM5_ENST00000305447.4_Missense_Mutation_p.K259E|GRM5_ENST00000455756.2_Missense_Mutation_p.K259E|GRM5_ENST00000305432.5_Missense_Mutation_p.K259E|GRM5_ENST00000393297.1_Missense_Mutation_p.K259E			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	259					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTCAGCAGCTTATCAAAGCTC	0.532													5	50					0	0	0	0	C	88583210	T	C	88583210	3	2	253	1	0	0	0	0	1	0	0	0	6850	1763	61	5	2895	5	GRM5	11	88583210	Missense_Mutation	SNP	T	TCGA-CV-6938-01A-11D-1912-08	13593444	88583210	46423306	96	45516											
NAALAD2	10003	broad.mit.edu	37	chr11	89868742	89868742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaggctggtttattaagcCtctcaaagaaacgaccactt	12	12	7	10	1	1	1	1	0	1	1	2	2	1	1	2	2	2	2	2	2	5	5			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:89868742C>T	ENST00000534061.1	+	2	328	c.98C>T	c.(97-99)cCt>cTt	p.P33L	NAALAD2_ENST00000375944.3_Missense_Mutation_p.P33L|NAALAD2_ENST00000321955.4_Missense_Mutation_p.P33L|NAALAD2_ENST00000525171.1_Missense_Mutation_p.P33L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	33					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTATTAAGCCTCTCAAAGAA	0.378													4	37					0	0	0	0	T	89868742	C	T	89868742	3	4	253	1	0	0	0	0	1	0	0	0	10198	681	24	4	104	4	NAALAD2	11	89868742	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	1285532	89868742	45137774	97	45517											
C2CD2L	9854	broad.mit.edu	37	chr11	118984985	118984985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagacgagacaacccgttcgGatatttctgagaggccatct	11	9	10	11	3	2	3	0	1	2	3	3	6	2	4	2	2	1	1	2	2	2	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:118984985G>T	ENST00000336702.3	+	13	2181	c.1822G>T	c.(1822-1824)Gat>Tat	p.D608Y	C2CD2L_ENST00000528586.1_Missense_Mutation_p.D355Y	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	607						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						AACCCGTTCGGATATTTCTGA	0.572													11	142					1.08611e-07	1.42512e-07	1	0	T	118984985	G	T	118984985	3	4	253	1	0	0	0	0	1	0	0	0	2173	1174	41	2	1872	2	C2CD2L	11	118984985	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	29116243	118984985	16021531	98	45518											
PANX3	116337	broad.mit.edu	37	chr11	124487352	124487352	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatccggcagaagagttcCgacccctatgtgttctggaa	11	9	11	10	2	1	3	0	0	1	3	3	5	3	4	4	2	0	3	4	2	4	3	rs147550190		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:124487352C>T	ENST00000284288.2	+	3	574	c.507C>T	c.(505-507)tcC>tcT	p.S169S		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	169					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.S169S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		AGAAGAGTTCCGACCCCTATG	0.458													19	105					0	0	0	0	T	124487352	C	T	124487352	2	4	253	1	0	0	0	0	0	0	0	1	11493	639	23	1		1	PANX3	11	124487352	Silent	SNP	C	TCGA-CV-6938-01A-11D-1912-08	5502367	124487352	10519164	99	45519											
GALNT8	26290	broad.mit.edu	37	chr12	4874614	4874614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaggccagtgctagtgatCgctgcctgacagaccctggc	8	7	13	13	1	0	4	0	2	0	2	1	4	0	4	3	2	2	2	3	2	1	1	rs148196108		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:4874614C>T	ENST00000252318.2	+	10	2000	c.1663C>T	c.(1663-1665)Cgc>Tgc	p.R555C		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	555	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGCTAGTGATCGCTGCCTGAC	0.438													4	47					0	0	0	0	T	4874614	C	T	4874614	3	4	253	1	0	0	0	0	1	0	0	0	6268	884	31	1	1701	1	GALNT8	12	4874614	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08		4874614	128977281	100	45520											
PZP	5858	broad.mit.edu	37	chr12	9304243	9304243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgttgctcacttctgtcCggctcacagagctagatctt	6	14	10	11	1	4	2	2	0	2	2	5	2	5	2	1	2	2	5	1	2	1	5			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:9304243C>T	ENST00000261336.2	-	33	4266	c.4238G>A	c.(4237-4239)cGg>cAg	p.R1413Q	PZP_ENST00000381997.2_Missense_Mutation_p.R1199Q	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CACTTCTGTCCGGCTCACAGA	0.443													5	33					0	0	0	0	T	9304243	C	T	9304243	3	4	253	1	0	0	0	0	1	0	0	0	12951	652	23	1	226	1	PZP	12	9304243	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	4429629	9304243	124547652	101	45521											
MRPS35	60488	broad.mit.edu	37	chr12	27869315	27869315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaaaccctctgcagtacCtcttcctgttcgaatgggtt	8	15	7	11	1	2	0	0	0	2	0	4	1	3	0	3	1	3	4	3	1	4	6			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:27869315C>T	ENST00000081029.3	+	3	316	c.245C>T	c.(244-246)cCt>cTt	p.P82L	MRPS35_ENST00000538315.1_Missense_Mutation_p.P82L	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	82					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					TCTGCAGTACCTCTTCCTGTT	0.448													5	42					0	0	0	0	T	27869315	C	T	27869315	3	4	253	1	0	0	0	0	1	0	0	0	9914	681	24	4	255	4	MRPS35	12	27869315	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	18565072	27869315	105982580	102	45522											
PUS7L	83448	broad.mit.edu	37	chr12	44148515	44148515	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggaaatttctgcctaatGgcactgtgtaaactagccct	12	12	8	9	0	1	0	0	0	1	0	1	1	1	1	2	2	3	2	2	2	6	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:44148515G>A	ENST00000416848.2	-	2	1022	c.534C>T	c.(532-534)gcC>gcT	p.A178A	PUS7L_ENST00000551923.1_Silent_p.A178A|PUS7L_ENST00000344862.5_Silent_p.A178A|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Silent_p.A178A	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	178					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCTGCCTAATGGCACTGTGTA	0.358													10	83					0	0	0	0	A	44148515	G	A	44148515	2	1	253	1	0	0	0	0	0	0	0	1	12916	1335	47	4		4	PUS7L	12	44148515	Silent	SNP	G	TCGA-CV-6938-01A-11D-1912-08	16279200	44148515	89703380	103	45523											
PCBP2	5094	broad.mit.edu	37	chr12	53854894	53854895	+	Frame_Shift_Del	DEL	GT	GT	-																															attccacaatccatcattgaGtgtgtcaaacagatctgcgt																										TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:53854894_53854895delGT	ENST00000603815.1	+	7	821_822	c.471_472delGT	c.(469-474)gagtfs	p.EC157fs	PCBP2_ENST00000359282.5_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000541275.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000437231.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000552819.1_Frame_Shift_Del_p.EC157fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000447282.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000439930.3_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000549863.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000548933.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000546463.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000359462.5_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000455667.3_Frame_Shift_Del_p.EC157fs	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	157	KH 2.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CCATCATTGAGTGTGTCAAACA	0.53													8	58	---	---	---	---					-	53854895	GT	-	53854894	7	5	253	1	0	1	0	1	0	0	0	0	11572	1020	36	0	493	0	PCBP2	12	53854894	Frame_Shift_Del	DEL	GT	TCGA-CV-6938-01A-11D-1912-08	9706379	53854894	79997001	104	45524											
DNAJC14	85406	broad.mit.edu	37	chr12	56221562	56221562	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccctaaccgccctgtcCacactcccatccaaactcga	10	6	4	21	2	0	0	0	0	0	0	4	1	3	0	7	0	3	0	7	0	2	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:56221562C>T	ENST00000357606.3	-	3	1170	c.881G>A	c.(880-882)tGg>tAg	p.W294*	DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.W294*|DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.W294*			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	294					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CCGCCCTGTCCACACTCCCAT	0.498													9	89					0	0	0	0	T	56221562	C	T	56221562	4	4	253	1	0	0	0	0	0	1	0	0	4669	595	21	4	1251	4	DNAJC14	12	56221562	Nonsense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	2366668	56221562	77630333	105	45525											
GAS2L3	283431	broad.mit.edu	37	chr12	100995424	100995424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgtttttaggtattaaaGttaaggcagaaaaattattg	16	16	8	1	0	0	1	0	0	0	1	0	1	0	1	0	2	0	4	0	2	9	9			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:100995424G>A	ENST00000539410.1	+	4	582	c.196G>A	c.(196-198)Gtt>Att	p.V66I	GAS2L3_ENST00000547754.1_Missense_Mutation_p.V66I|GAS2L3_ENST00000266754.5_Missense_Mutation_p.V66I|GAS2L3_ENST00000537247.1_5'UTR			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	66	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AGGTATTAAAGTTAAGGCAGA	0.269													11	82					0	0	0	0	A	100995424	G	A	100995424	3	1	253	1	0	0	0	0	1	0	0	0	6297	1029	36	4	206	4	GAS2L3	12	100995424	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	44773862	100995424	32856471	106	45526											
GAS2L3	283431	broad.mit.edu	37	chr12	101017977	101017977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacttttgccaaataagtGttcaggaaaaactcaaccta	16	10	5	10	0	2	0	2	0	0	0	2	1	2	1	2	1	3	1	2	1	6	5			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:101017977G>A	ENST00000537247.1	+	10	2036	c.1082G>A	c.(1081-1083)tGt>tAt	p.C361Y	GAS2L3_ENST00000539410.1_Missense_Mutation_p.C465Y|GAS2L3_ENST00000547754.1_Missense_Mutation_p.C465Y|GAS2L3_ENST00000266754.5_Missense_Mutation_p.C465Y			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	465					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCAAATAAGTGTTCAGGAAAA	0.403													8	94					0	0	0	0	A	101017977	G	A	101017977	3	1	253	1	0	0	0	0	1	0	0	0	6297	1377	48	4	1424	4	GAS2L3	12	101017977	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	22553	101017977	32833918	107	45527											
TCP11L2	255394	broad.mit.edu	37	chr12	106708250	106708250	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaactttcaattgaaacAagaggctctcccagaaaaga	17	8	8	8	0	2	5	1	2	1	4	3	6	2	5	1	1	2	1	1	1	6	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:106708250A>G	ENST00000546625.1	+	3	431	c.272A>G	c.(271-273)cAa>cGa	p.Q91R	TCP11L2_ENST00000299045.3_Missense_Mutation_p.Q91R|TCP11L2_ENST00000547153.1_Missense_Mutation_p.Q91R			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	91										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CAATTGAAACAAGAGGCTCTC	0.413													8	44					0	0	0	0	G	106708250	A	G	106708250	3	3	253	1	0	0	0	0	1	0	0	0	15809	130	5	5	278	5	TCP11L2	12	106708250	Missense_Mutation	SNP	A	TCGA-CV-6938-01A-11D-1912-08	5690273	106708250	27143645	108	45528											
RASAL1	8437	broad.mit.edu	37	chr12	113553852	113553852	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcgcagggcacccaggtTccccctgtccaggatcagat	8	7	10	16	1	1	1	1	0	0	1	4	2	3	2	4	3	0	3	4	3	0	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:113553852T>C	ENST00000546530.1	-	10	1021	c.736A>G	c.(736-738)Aac>Gac	p.N246D	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.N246D|RASAL1_ENST00000261729.5_Missense_Mutation_p.N246D|RASAL1_ENST00000548055.1_Missense_Mutation_p.N246D	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	246					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCACCCAGGTTCCCCCTGTCC	0.572													4	51					0	0	0	0	C	113553852	T	C	113553852	3	2	253	1	0	0	0	0	1	0	0	0	13145	1783	62	5	1730	5	RASAL1	12	113553852	Missense_Mutation	SNP	T	TCGA-CV-6938-01A-11D-1912-08	6845602	113553852	20298043	109	45529											
CCDC60	160777	broad.mit.edu	37	chr12	119978433	119978435	+	In_Frame_Del	DEL	CAT	CAT	-																															tcacagtttgtgcgagaacaCatcatccatatgcctcaaga																										TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:119978433_119978435delCAT	ENST00000327554.2	+	14	2031_2033	c.1566_1568delCAT	c.(1564-1569)cac>ca	p.HI522del	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	522										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGCGAGAACACATCATCCATATG	0.527													17	155	---	---	---	---					-	119978435	CAT	-	119978433	7	5	253	1	0	1	0	1	0	0	0	0	2858	477	17	0	1620	0	CCDC60	12	119978433	In_Frame_Del	DEL	CAT	TCGA-CV-6938-01A-11D-1912-08	6424581	119978433	13873462	110	45530											
KDM2B	84678	broad.mit.edu	37	chr12	122012498	122012498	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgaaatcagggtcaggcatCctggggaaagaggagcacag	13	5	16	7	0	2	2	2	1	0	1	3	4	3	4	1	5	1	2	1	5	2	0			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:122012498C>T	ENST00000377069.4	-	4	664	c.257_splice	c.e4-1	p.K86_splice	KDM2B_ENST00000377071.4_Splice_Site_p.K117_splice|KDM2B_ENST00000536437.1_5'UTR|KDM2B_ENST00000538046.2_Splice_Site_p.K117_splice	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	117					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGTCAGGCATCCTGGGGAAAG	0.542													6	66					0	0	0	0	T	122012498	C	T	122012498	5	4	253	1	0	0	0	0	0	0	1	0	8178	869	30	2	3791	2	KDM2B	12	122012498	Splice_Site	SNP	C	TCGA-CV-6938-01A-11D-1912-08	2034065	122012498	11839397	111	45531											
WDR66	144406	broad.mit.edu	37	chr12	122386953	122386953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaatagtaaaacacgggcaAtatattatgcatgggtaagc	16	9	10	6	1	0	0	0	0	0	0	0	0	0	0	0	2	3	5	0	2	9	6			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:122386953A>G	ENST00000288912.4	+	8	2109	c.1255A>G	c.(1255-1257)Ata>Gta	p.I419V	WDR66_ENST00000397454.2_Missense_Mutation_p.I419V	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	419							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AACACGGGCAATATATTATGC	0.274													7	59					0	0	0	0	G	122386953	A	G	122386953	3	3	253	1	0	0	0	0	1	0	0	0	17413	101	4	5	1281	5	WDR66	12	122386953	Missense_Mutation	SNP	A	TCGA-CV-6938-01A-11D-1912-08	374455	122386953	11464942	112	45532											
PABPC3	5042	broad.mit.edu	37	chr13	25671496	25671496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtatatgcagagaatggCaagtgtacgagctgtgccca	12	8	13	8	2	0	1	0	0	0	1	0	4	0	1	1	1	4	5	1	1	5	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:25671496C>T	ENST00000281589.3	+	1	1197	c.1160C>T	c.(1159-1161)gCa>gTa	p.A387V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	387					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGAGAATGGCAAGTGTACGA	0.502													11	122					0	0	0	0	T	25671496	C	T	25671496	3	4	253	1	0	0	0	0	1	0	0	0	11436	710	25	4	1162	4	PABPC3	13	25671496	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08		25671496	89498382	113	45533											
FLT1	2321	broad.mit.edu	37	chr13	28895620	28895620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctccttttctcacataatCggggttcttataaatatccc	10	16	4	11	1	3	0	1	0	3	0	7	0	4	0	2	2	0	1	2	2	5	7			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:28895620C>T	ENST00000282397.4	-	23	3405	c.3154G>A	c.(3154-3156)Gat>Aat	p.D1052N	FLT1_ENST00000543394.1_Missense_Mutation_p.D75N|FLT1_ENST00000540678.1_Missense_Mutation_p.D270N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1052	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTCACATAATCGGGGTTCTTA	0.393													5	110					0	0	0	0	T	28895620	C	T	28895620	3	4	253	1	0	0	0	0	1	0	0	0	5986	884	31	1	894	1	FLT1	13	28895620	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	3224124	28895620	86274258	114	45534											
SERP2	387923	broad.mit.edu	37	chr13	44953805	44953807	+	In_Frame_Del	DEL	GAC	GAC	-																															agaggagaaatatcctgtggGaccatggctgttggcactgt																										TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:44953805_44953807delGAC	ENST00000379179.3	+	2	297_299	c.113_115delGAC	c.(112-117)gca>g	p.GP38del		NM_001010897.1	NP_001010897.1	Q8N6R1	SERP2_HUMAN	stress-associated endoplasmic reticulum protein family member 2	38					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)	1		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)		TATCCTGTGGGACCATGGCTGTT	0.414													15	182	---	---	---	---					-	44953807	GAC	-	44953805	7	5	253	1	0	1	0	1	0	0	0	0	14172	1174	41	0	119	0	SERP2	13	44953805	In_Frame_Del	DEL	GAC	TCGA-CV-6938-01A-11D-1912-08	16058185	44953805	70216073	115	45535											
CPB2	1361	broad.mit.edu	37	chr13	46627851	46627851	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaagaatccgtatgtGcccgtatctcgaagttcaat	11	10	10	10	3	2	1	1	0	1	1	4	2	3	1	2	1	2	5	2	1	6	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:46627851G>A	ENST00000181383.4	-	11	1186	c.1170C>T	c.(1168-1170)ggC>ggT	p.G390G	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Intron|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	390					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATCCGTATGTGCCCGTATCTC	0.438													12	70					0	0	0	0	A	46627851	G	A	46627851	2	1	253	1	0	0	0	0	0	0	0	1	3827	1306	46	4		4	CPB2	13	46627851	Silent	SNP	G	TCGA-CV-6938-01A-11D-1912-08	1674046	46627851	68542027	116	45536											
PCDH17	27253	broad.mit.edu	37	chr13	58208829	58208829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactctgagcactatctccAtcatcctcctagcggccatg	8	11	7	15	1	3	2	1	2	2	0	6	2	5	2	4	1	2	1	4	1	2	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:58208829A>G	ENST00000377918.3	+	1	2175	c.2149A>G	c.(2149-2151)Atc>Gtc	p.I717V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	717					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CACTATCTCCATCATCCTCCT	0.607													7	71					0	0	0	0	G	58208829	A	G	58208829	3	3	253	1	0	0	0	0	1	0	0	0	11583	217	8	5	2151	5	PCDH17	13	58208829	Missense_Mutation	SNP	A	TCGA-CV-6938-01A-11D-1912-08	11580978	58208829	56961049	117	45537											
DIAPH3	81624	broad.mit.edu	37	chr13	60544103	60544103	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttggcaacaaaatgtattCtcaagtttacaaagcaaatc	16	12	6	7	0	1	0	1	0	1	0	3	0	1	0	0	1	3	5	0	1	8	5			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:60544103C>G	ENST00000400324.4	-	17	2269	c.2049G>C	c.(2047-2049)gaG>gaC	p.E683D	DIAPH3_ENST00000377908.2_Missense_Mutation_p.E672D|DIAPH3_ENST00000267215.4_Missense_Mutation_p.E683D|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E613D|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E637D|DIAPH3_ENST00000400330.1_Missense_Mutation_p.E683D	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	683	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAAATGTATTCTCAAGTTTAC	0.254													3	19					0	0	0	0	G	60544103	C	G	60544103	3	3	253	1	0	0	0	0	1	0	0	0	4557	912	32	2	1600	2	DIAPH3	13	60544103	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	2335274	60544103	54625775	118	45538											
EDNRB	1910	broad.mit.edu	37	chr13	78492516	78492516	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccgcaggtgccaacgAccgcgccagactggcgttgg	7	5	13	16	5	0	1	0	0	0	1	1	2	1	1	5	3	2	2	5	3	1	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:78492516A>T	ENST00000377211.4	-	2	615	c.463T>A	c.(463-465)Tcg>Acg	p.S155T	EDNRB_ENST00000334286.5_Missense_Mutation_p.S65T|EDNRB_ENST00000446573.1_Missense_Mutation_p.S65T|EDNRB_ENST00000475537.1_5'UTR	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	65					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GGTGCCAACGACCGCGCCAGA	0.622													8	82					0	0	0	0	T	78492516	A	T	78492516	3	4	253	1	0	0	0	0	1	0	0	0	4956	275	10	5	1284	5	EDNRB	13	78492516	Missense_Mutation	SNP	A	TCGA-CV-6938-01A-11D-1912-08	17948413	78492516	36677362	119	45539											
ZIC2	7546	broad.mit.edu	37	chr13	100635244	100635244	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgggaggagtgtccgcGcgagggcaagcccttcaagg	7	7	16	11	3	2	0	1	0	1	0	3	3	3	2	2	4	1	1	2	4	2	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:100635244G>C	ENST00000376335.3	+	1	1219	c.926G>C	c.(925-927)cGc>cCc	p.R309P		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	309					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGTGTCCGCGCGAGGGCAAG	0.622													15	127					0	0	0	0	C	100635244	G	C	100635244	3	2	253	1	0	0	0	0	1	0	0	0	17774	1087	38	3	928	3	ZIC2	13	100635244	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	22142728	100635244	14534634	120	45540											
COL4A1	1282	broad.mit.edu	37	chr13	110827095	110827095	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacccgctatcccttgatctCcctgcaagtaaaagtcaggc	11	9	7	14	1	2	1	1	1	1	0	4	1	3	1	3	1	2	3	3	1	5	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:110827095C>T	ENST00000375820.4	-	38	3321	c.3198_splice	c.e38-1	p.G1067_splice		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1067	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCTTGATCTCCCTGCAAGTA	0.463													32	257					0	0	0	0	T	110827095	C	T	110827095	5	4	253	1	0	0	0	0	0	0	1	0	3719	869	30	2	1869	2	COL4A1	13	110827095	Splice_Site	SNP	C	TCGA-CV-6938-01A-11D-1912-08	10191851	110827095	4342783	121	45541											
LRP10	26020	broad.mit.edu	37	chr14	23346570	23346570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagtggtgcaggccctgcGaggccgcctgttgcccagcc	4	7	16	14	2	0	0	0	0	0	0	0	2	0	1	5	4	4	2	5	4	0	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:23346570G>A	ENST00000359591.4	+	7	2667	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	659	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CAGGCCCTGCGAGGCCGCCTG	0.667													11	91					0	0	0	0	A	23346570	G	A	23346570	3	1	253	1	0	0	0	0	1	0	0	0	9016	1058	37	1	2002	1	LRP10	14	23346570	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08		23346570	84002970	122	45542											
CDH24	64403	broad.mit.edu	37	chr14	23524268	23524268	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagctggggtgctcacCgacattggacatctcgggca	8	9	13	11	2	3	1	2	0	1	1	4	3	3	2	1	4	2	3	1	4	0	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:23524268C>T	ENST00000397359.3	-	3	755	c.496_splice	c.e3+1	p.G166_splice	CDH24_ENST00000487137.2_Splice_Site_p.G166_splice|CDH24_ENST00000554034.1_Splice_Site_p.G166_splice|CDH24_ENST00000267383.5_Splice_Site_p.G166_splice	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	166	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGTGCTCACCGACATTGGAC	0.552											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	107					0	0	0	0	T	23524268	C	T	23524268	5	4	253	1	0	0	0	0	0	0	1	0	3138	666	23	1	2007	1	CDH24	14	23524268	Splice_Site	SNP	C	TCGA-CV-6938-01A-11D-1912-08	177698	23524268	83825272	123	45543											
YLPM1	56252	broad.mit.edu	37	chr14	75277087	75277087	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttattgactatgaccgggAtcgatttgacagagaacgcc	11	11	11	8	3	0	4	0	3	0	1	1	7	0	5	2	1	1	1	2	1	3	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:75277087A>G	ENST00000325680.7	+	9	5316	c.5192A>G	c.(5191-5193)gAt>gGt	p.D1731G	YLPM1_ENST00000552421.1_Missense_Mutation_p.D1025G|YLPM1_ENST00000238571.3_Missense_Mutation_p.D1536G	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TATGACCGGGATCGATTTGAC	0.403													3	115					0	0	0	0	G	75277087	A	G	75277087	3	3	253	1	0	0	0	0	1	0	0	0	17582	333	12	5	5226	5	YLPM1	14	75277087	Missense_Mutation	SNP	A	TCGA-CV-6938-01A-11D-1912-08	51752819	75277087	32072453	124	45544											
MAPKBP1	23005	broad.mit.edu	37	chr15	42115756	42115756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgatggccgtccgtctcGgcctcactcctatcagaacc	7	9	9	16	3	3	2	2	1	1	1	6	2	5	2	5	2	2	1	5	2	2	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:42115756G>A	ENST00000457542.2	+	29	3996	c.3710G>A	c.(3709-3711)cGg>cAg	p.R1237Q	MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R1243Q|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1120Q|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1076Q	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1243										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CGTCCGTCTCGGCCTCACTCC	0.622													8	56					0	0	0	0	A	42115756	G	A	42115756	3	1	253	1	0	0	0	0	1	0	0	0	9361	1116	39	1	3842	1	MAPKBP1	15	42115756	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08		42115756	60415636	125	45545											
TCF12	6938	broad.mit.edu	37	chr15	57565366	57565366	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagcttggccgaatgtgTcagcttcacttgaagagtga	12	10	12	7	1	2	4	2	2	0	2	2	5	2	4	1	1	2	2	1	1	3	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:57565366T>A	ENST00000267811.5	+	18	2116	c.1812T>A	c.(1810-1812)tgT>tgA	p.C604*	TCF12_ENST00000452095.2_Nonsense_Mutation_p.C624*|TCF12_ENST00000557843.1_Nonsense_Mutation_p.C604*|TCF12_ENST00000543579.1_Nonsense_Mutation_p.C458*|TCF12_ENST00000537840.1_Nonsense_Mutation_p.C368*|TCF12_ENST00000559710.1_Nonsense_Mutation_p.C238*|TCF12_ENST00000438423.2_Nonsense_Mutation_p.C628*|TCF12_ENST00000333725.5_Nonsense_Mutation_p.C628*|TCF12_ENST00000559703.1_Nonsense_Mutation_p.C261*|TCF12_ENST00000343827.3_Nonsense_Mutation_p.C434*	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	604	Helix-loop-helix motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCCGAATGTGTCAGCTTCACT	0.458			T	TEC	extraskeletal myxoid chondrosarcoma								17	85					0	0	0	0	A	57565366	T	A	57565366	4	1	253	1	0	0	0	0	0	1	0	0	15781	1673	58	5	2027	5	TCF12	15	57565366	Nonsense_Mutation	SNP	T	TCGA-CV-6938-01A-11D-1912-08	15449610	57565366	44966026	126	45546											
ALDH1A2	8854	broad.mit.edu	37	chr15	58357758	58357758	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtacttaatttcgagattggGcgtgggcgacggcaggaggt	8	10	17	6	4	0	1	0	0	0	1	1	4	0	2	0	5	1	2	0	5	2	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:58357758G>C	ENST00000249750.4	-	1	858	c.91C>G	c.(91-93)Ccc>Gcc	p.P31A	ALDH1A2_ENST00000537372.1_5'UTR|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.P31A|CTD-2330J20.2_ENST00000559684.1_RNA|ALDH1A2_ENST00000558231.1_Intron	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	31					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TCGAGATTGGGCGTGGGCGAC	0.627													4	53					0	0	0	0	C	58357758	G	C	58357758	3	2	253	1	0	0	0	0	1	0	0	0	491	1203	42	4	1517	4	ALDH1A2	15	58357758	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	792392	58357758	44173634	127	45547											
CHSY1	22856	broad.mit.edu	37	chr15	101719015	101719015	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcagctgtattgtgcgAtggcggagctcggatatctt	6	12	15	8	4	1	0	0	0	1	0	2	3	1	2	0	4	4	4	0	4	2	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:101719015A>G	ENST00000254190.3	-	3	1462	c.987T>C	c.(985-987)caT>caC	p.H329H	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	329					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTATTGTGCGATGGCGGAGCT	0.498													9	79					0	0	0	0	G	101719015	A	G	101719015	2	3	253	1	0	0	0	0	0	0	0	1	3441	330	12	5		5	CHSY1	15	101719015	Silent	SNP	A	TCGA-CV-6938-01A-11D-1912-08	43361257	101719015	812377	128	45548											
PTX4	390667	broad.mit.edu	37	chr16	1537772	1537772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgtgtctactttccggcctCggcgctgcagcttcctcacc	3	11	10	17	4	2	0	1	0	1	0	5	0	4	0	4	2	3	3	4	2	1	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:1537772C>T	ENST00000447419.2	-	2	366	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	PTX4_ENST00000293922.1_Missense_Mutation_p.R109Q|PTX4_ENST00000440447.2_Missense_Mutation_p.R114Q			Q96A99	PTX4_HUMAN	pentraxin 4, long	114						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TTTCCGGCCTCGGCGCTGCAG	0.687													13	77					0	0	0	0	T	1537772	C	T	1537772	3	4	253	1	0	0	0	0	1	0	0	0	12905	884	31	1	1102	1	PTX4	16	1537772	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08		1537772	88816981	129	45549											
MEFV	4210	broad.mit.edu	37	chr16	3296524	3296524	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccacaggacctcgctgtaCctgtgcaagatgtctccaat	10	9	8	14	1	1	1	0	0	1	1	3	2	1	2	4	1	2	3	4	1	3	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:3296524C>T	ENST00000219596.1	-	6	1650		c.e6+1		MEFV_ENST00000536379.1_Splice_Site|MEFV_ENST00000339854.4_Splice_Site|MEFV_ENST00000541159.1_Splice_Site	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever						inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCTCGCTGTACCTGTGCAAGA	0.567													4	40					0	0	0	0	T	3296524	C	T	3296524	5	4	253	1	0	0	0	0	0	0	1	0	9528	521	18	4	754	4	MEFV	16	3296524	Splice_Site	SNP	C	TCGA-CV-6938-01A-11D-1912-08	1758752	3296524	87058229	130	45550											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524589	10524589	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaggaatgttgaagcgCtgaaaacagcaattgggagt	15	8	13	5	1	1	2	1	2	0	0	1	4	1	4	0	2	3	3	0	2	6	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:10524589C>T	ENST00000396560.2	+	3	339	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000324570.5_Silent_p.L38L|ATF7IP2_ENST00000356427.2_Silent_p.L38L|ATF7IP2_ENST00000396559.1_Silent_p.L38L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TGTTGAAGCGCTGAAAACAGC	0.408													5	35					0	0	0	0	T	10524589	C	T	10524589	2	4	253	1	0	0	0	0	0	0	0	1	1092	796	28	4		4	ATF7IP2	16	10524589	Silent	SNP	C	TCGA-CV-6938-01A-11D-1912-08	7228065	10524589	79830164	131	45551											
DNAH3	55567	broad.mit.edu	37	chr16	20990733	20990733	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcttgcctcttgctattCaggagcgtcttgaaggttag	7	14	10	10	1	4	1	1	1	3	0	4	2	4	2	2	2	3	2	2	2	3	6			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:20990733C>G	ENST00000261383.3	-	50	7994	c.7995G>C	c.(7993-7995)ctG>ctC	p.L2665L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2665	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTTGCTATTCAGGAGCGTCT	0.468													8	91					0	0	0	0	G	20990733	C	G	20990733	2	3	253	1	0	0	0	0	0	0	0	1	4640	813	29	2		2	DNAH3	16	20990733	Silent	SNP	C	TCGA-CV-6938-01A-11D-1912-08	10466144	20990733	69364020	132	45552											
ARMC5	79798	broad.mit.edu	37	chr16	31477646	31477646	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccctgtcccagctccCgacctgcacttcctgctgga	5	8	8	20	1	0	0	0	0	0	0	3	2	3	1	7	1	4	3	7	1	0	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:31477646C>T	ENST00000408912.3	+	8	2846	c.2529C>T	c.(2527-2529)ccC>ccT	p.P843P	ARMC5_ENST00000412665.2_Silent_p.P392P|ARMC5_ENST00000538189.1_Silent_p.P780P|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000268314.4_Silent_p.P748P|ARMC5_ENST00000563544.1_Silent_p.P748P			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	748							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCCCAGCTCCCGACCTGCACT	0.667													3	32					0	0	0	0	T	31477646	C	T	31477646	2	4	253	1	0	0	0	0	0	0	0	1	958	639	23	1		1	ARMC5	16	31477646	Silent	SNP	C	TCGA-CV-6938-01A-11D-1912-08	10486913	31477646	58877107	133	45553											
ADCY7	113	broad.mit.edu	37	chr16	50347892	50347892	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctactgaagcccaagttcagCggcgtggagaagatcaagac	13	6	12	10	2	2	4	2	1	0	3	2	5	2	4	1	2	3	1	1	2	5	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:50347892C>T	ENST00000394697.2	+	23	3115	c.2775C>T	c.(2773-2775)agC>agT	p.S925S	ADCY7_ENST00000254235.3_Silent_p.S925S			P51828	ADCY7_HUMAN	adenylate cyclase 7	925	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCAAGTTCAGCGGCGTGGAGA	0.617													6	57					0	0	0	0	T	50347892	C	T	50347892	2	4	253	1	0	0	0	0	0	0	0	1	299	767	27	1		1	ADCY7	16	50347892	Silent	SNP	C	TCGA-CV-6938-01A-11D-1912-08	18870246	50347892	40006861	134	45554											
CTCF	10664	broad.mit.edu	37	chr16	67670670	67670670	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaacctgagccagagcctCagcctgtgaccccagcccca	9	6	9	17	0	1	4	1	3	0	1	1	4	1	4	8	0	5	0	8	0	1	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:67670670C>T	ENST00000264010.4	+	11	2359	c.1915C>T	c.(1915-1917)Cag>Tag	p.Q639*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.Q311*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	639					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCCAGAGCCTCAGCCTGTGAC	0.547													24	182					0	0	0	0	T	67670670	C	T	67670670	4	4	253	1	0	0	0	0	0	1	0	0	4032	827	29	2	1949	2	CTCF	16	67670670	Nonsense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	17322778	67670670	22684083	135	45555											
PHLPP2	23035	broad.mit.edu	37	chr16	71718486	71718486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcaagggagtattgccGtcgcttcacttcttctatct	9	13	9	10	2	4	0	1	0	3	0	5	2	4	1	1	1	2	3	1	1	4	6			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:71718486G>A	ENST00000393524.2	-	4	1361	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	PHLPP2_ENST00000568954.1_Missense_Mutation_p.R210W|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R210W|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R210W|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R245W			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	210	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAGTATTGCCGTCGCTTCACT	0.478													8	37					0	0	0	0	A	71718486	G	A	71718486	3	1	253	1	0	0	0	0	1	0	0	0	11927	1144	40	1	3403	1	PHLPP2	16	71718486	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	4047816	71718486	18636267	136	45556											
CNTNAP4	85445	broad.mit.edu	37	chr16	76482788	76482788	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtcaacttcacagtggaCgaacacaggcatcatttcca	14	8	7	12	1	3	0	3	0	0	0	4	2	4	1	1	2	2	1	1	2	3	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:76482788C>T	ENST00000307431.8	+	7	1249	c.864C>T	c.(862-864)gaC>gaT	p.D288D	CNTNAP4_ENST00000377504.4_Silent_p.D288D|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.D264D|CNTNAP4_ENST00000476707.1_Silent_p.D292D	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	289	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCACAGTGGACGAACACAGGC	0.448													4	26					0	0	0	0	T	76482788	C	T	76482788	2	4	253	1	0	0	0	0	0	0	0	1	3679	535	19	1		1	CNTNAP4	16	76482788	Silent	SNP	C	TCGA-CV-6938-01A-11D-1912-08	4764302	76482788	13871965	137	45557											
TM4SF5	9032	broad.mit.edu	37	chr17	4684093	4684093	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgtcccacaggtactgtgtCcggggattgcagccgttcgg	5	11	14	11	3	0	0	0	0	0	0	3	1	2	1	3	4	3	3	3	4	1	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:4684093C>G	ENST00000270560.3	+	2	218	c.187C>G	c.(187-189)Ccg>Gcg	p.P63A		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	63						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						GGTACTGTGTCCGGGGATTGC	0.577													7	22					0	0	0	0	G	4684093	C	G	4684093	3	3	253	1	0	0	0	0	1	0	0	0	16065	855	30	2	193	2	TM4SF5	17	4684093	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08		4684093	76511117	138	45558											
PSMB6	5694	broad.mit.edu	37	chr17	4700737	4700737	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgccatcctgcaggtccTacatcgccaatcgagtgact	8	11	8	14	2	1	1	0	1	1	0	5	2	3	1	4	1	3	1	4	1	2	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:4700737T>C	ENST00000270586.3	+	3	226	c.175T>C	c.(175-177)Tac>Cac	p.Y59H		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	59					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						CTGCAGGTCCTACATCGCCAA	0.547													3	192					0	0	0	0	C	4700737	T	C	4700737	3	2	253	1	0	0	0	0	1	0	0	0	12760	1522	53	5	185	5	PSMB6	17	4700737	Missense_Mutation	SNP	T	TCGA-CV-6938-01A-11D-1912-08	16644	4700737	76494473	139	45559											
TOM1L2	146691	broad.mit.edu	37	chr17	17751077	17751077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagcagctttggctctttCttcaaggaatttatcaaact	10	16	6	9	0	5	0	3	0	2	0	5	1	5	1	0	2	3	3	0	2	4	6			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:17751077C>T	ENST00000581396.1	-	14	1342	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	TOM1L2_ENST00000379504.3_Missense_Mutation_p.E466K|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E421K|TOM1L2_ENST00000542206.1_Missense_Mutation_p.E347K|TOM1L2_ENST00000478943.1_Missense_Mutation_p.E199K|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E442K|TOM1L2_ENST00000540946.1_Missense_Mutation_p.E348K|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E421K	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	466					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TTGGCTCTTTCTTCAAGGAAT	0.592													5	74					0	0	0	0	T	17751077	C	T	17751077	3	4	253	1	0	0	0	0	1	0	0	0	16447	922	32	2	131	2	TOM1L2	17	17751077	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	13050340	17751077	63444133	140	45560											
ALDOC	230	broad.mit.edu	37	chr17	26901251	26901251	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggccttgtacacagcAgccaagacctgggtggggat	9	7	14	11	0	1	1	1	0	0	1	1	2	1	2	3	4	3	2	3	4	2	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:26901251A>G	ENST00000226253.4	-	7	1108	c.633T>C	c.(631-633)gcT>gcC	p.A211A	RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Silent_p.A183A|ALDOC_ENST00000395321.2_Silent_p.A211A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	211					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					TGTACACAGCAGCCAAGACCT	0.567													18	186					0	0	0	0	G	26901251	A	G	26901251	2	3	253	1	0	0	0	0	0	0	0	1	509	175	7	5		5	ALDOC	17	26901251	Silent	SNP	A	TCGA-CV-6938-01A-11D-1912-08	9150174	26901251	54293959	141	45561											
ZPBP2	124626	broad.mit.edu	37	chr17	38027749	38027749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatataactgaaactggaCagctgatggtgaaagatttt	16	12	9	4	0	0	4	0	3	0	1	0	5	0	5	0	2	3	1	0	2	6	5			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:38027749C>A	ENST00000377940.3	+	3	350	c.211C>A	c.(211-213)Cag>Aag	p.Q71K	ZPBP2_ENST00000348931.4_Missense_Mutation_p.Q93K|ZPBP2_ENST00000584588.1_Missense_Mutation_p.Q93K	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	93					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGAAACTGGACAGCTGATGGT	0.294													6	60					0.00198382	0.00250182	1	0	A	38027749	C	A	38027749	3	1	253	1	0	0	0	0	1	0	0	0	18313	479	17	4	291	4	ZPBP2	17	38027749	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	11126498	38027749	43167461	142	45562											
KRTAP4-8	728224	broad.mit.edu	37	chr17	39254188	39254188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggcagcactggggtctgCagcagcaggacacactgtag	10	6	14	11	0	1	0	0	0	1	0	1	1	1	1	0	4	4	6	0	4	1	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:39254188C>A	ENST00000333822.4	-	1	205	c.149G>T	c.(148-150)tGc>tTc	p.C50F		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	50	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CTGGGGTCTGCAGCAGCAGGA	0.652													14	61					6.72482e-11	9.14093e-11	1	0	A	39254188	C	A	39254188	3	1	253	1	0	0	0	0	1	0	0	0	8609	710	25	4	412	4	KRTAP4-8	17	39254188	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	1226439	39254188	41941022	143	45563											
TUBG2	27175	broad.mit.edu	37	chr17	40818790	40818790	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcggccacccagccagactAcatttcctggggcacccagg	8	6	11	16	1	0	1	0	0	0	1	1	1	1	1	5	4	3	1	5	4	1	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:40818790A>T	ENST00000251412.7	+	11	1527	c.1328A>T	c.(1327-1329)tAc>tTc	p.Y443F		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	443					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CAGCCAGACTACATTTCCTGG	0.542													5	62					0	0	0	0	T	40818790	A	T	40818790	3	4	253	1	0	0	0	0	1	0	0	0	16861	391	14	5	1370	5	TUBG2	17	40818790	Missense_Mutation	SNP	A	TCGA-CV-6938-01A-11D-1912-08	1564602	40818790	40376420	144	45564											
RPRD1A	55197	broad.mit.edu	37	chr18	33607246	33607246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaggctgcattttccagatCttgtaatgctctaacgagat	10	14	9	8	1	2	3	0	1	2	2	3	4	3	3	1	1	3	4	1	1	2	5			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr18:33607246C>T	ENST00000399022.4	-	5	685	c.514G>A	c.(514-516)Gat>Aat	p.D172N	RPRD1A_ENST00000337059.5_Missense_Mutation_p.D136N|RPRD1A_ENST00000319040.6_Missense_Mutation_p.D172N|RPRD1A_ENST00000590898.1_Missense_Mutation_p.D136N|RPRD1A_ENST00000357384.4_Missense_Mutation_p.D172N|RPRD1A_ENST00000588737.1_Missense_Mutation_p.D136N	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	172										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TTTTCCAGATCTTGTAATGCT	0.353													10	121					0	0	0	0	T	33607246	C	T	33607246	3	4	253	1	0	0	0	0	1	0	0	0	13700	913	32	2	436	2	RPRD1A	18	33607246	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08		33607246	44470002	145	45565											
MUC16	94025	broad.mit.edu	37	chr19	9066795	9066795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattagtcgctgctgtgcttGtggaaggatgcatggcttct	6	14	13	8	1	1	0	0	0	1	0	2	2	1	2	0	3	3	5	0	3	2	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:9066795G>A	ENST00000397910.4	-	3	20854	c.20651C>T	c.(20650-20652)aCa>aTa	p.T6884I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6886	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						TGCTGTGCTTGTGGAAGGATG	0.478													28	217					0	0	0	0	A	9066795	G	A	9066795	3	1	253	1	0	0	0	0	1	0	0	0	10043	1377	48	4	23200	4	MUC16	19	9066795	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08		9066795	50062188	146	45566											
MUC16	94025	broad.mit.edu	37	chr19	9091710	9091711	+	Frame_Shift_Ins	INS	-	-	G																															taggtgacaaggtggctcctINSgtcagtcctgaatccatttc																										TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:9091710_9091711insG	ENST00000397910.4	-	1	307_308	c.104_105insC	c.(103-105)aggfs	p.R35fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	35	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						AGGTGGCTCCTGTCAGTCCTGA	0.525													7	38	---	---	---	---					G	9091711	-	G	9091710	7	5	253	1	0	1	1	0	0	0	0	0	10043	1567	55	0	43754	0	MUC16	19	9091710	Frame_Shift_Ins	INS	-	TCGA-CV-6938-01A-11D-1912-08	24915	9091710	50037273	147	45567											
MED26	9441	broad.mit.edu	37	chr19	16688252	16688252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctctggaggtcattgCggctcttcaggtcatggatg	6	11	14	10	1	5	0	3	0	2	0	5	2	5	2	1	5	2	2	1	5	0	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:16688252C>T	ENST00000263390.3	-	3	651	c.389G>A	c.(388-390)cGc>cAc	p.R130H	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.R138H	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	130					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GAGGTCATTGCGGCTCTTCAG	0.746													3	18					0	0	0	0	T	16688252	C	T	16688252	3	4	253	1	0	0	0	0	1	0	0	0	9513	768	27	1	1417	1	MED26	19	16688252	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	7596542	16688252	42440731	148	45568											
ZNF607	84775	broad.mit.edu	37	chr19	38190161	38190161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaaggtgggaaaactgacGaaaggcctttccacattcct	13	8	9	11	1	0	1	0	1	0	0	2	3	2	2	3	3	1	0	3	3	4	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:38190161G>A	ENST00000355202.4	-	5	1466	c.871C>T	c.(871-873)Cgt>Tgt	p.R291C	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.R290C	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAAAACTGACGAAAGGCCTTT	0.428													10	76					0	0	0	0	A	38190161	G	A	38190161	3	1	253	1	0	0	0	0	1	0	0	0	18128	1058	37	1	1223	1	ZNF607	19	38190161	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	21501909	38190161	20938822	149	45569											
CYP2B6	1555	broad.mit.edu	37	chr19	41509997	41509997	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaggccatacgggaggcccTtgtggacaaggctgaggcct	9	6	16	10	1	0	2	0	1	0	1	0	4	0	4	3	6	1	1	3	6	2	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:41509997T>C	ENST00000324071.4	+	2	270	c.263T>C	c.(262-264)cTt>cCt	p.L88P	CYP2B6_ENST00000330446.5_Missense_Mutation_p.L48P|CYP2B6_ENST00000593831.1_Missense_Mutation_p.L12P|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	88					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CGGGAGGCCCTTGTGGACAAG	0.602													3	118					0	0	0	0	C	41509997	T	C	41509997	3	2	253	1	0	0	0	0	1	0	0	0	4196	1609	56	5	269	5	CYP2B6	19	41509997	Missense_Mutation	SNP	T	TCGA-CV-6938-01A-11D-1912-08	3319836	41509997	17618986	150	45570											
PSG7	5676	broad.mit.edu	37	chr19	43428922	43428922	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcttgctctttgaggtTccatgggagaagatggaatt	8	14	14	5	0	2	3	0	1	2	2	3	5	3	4	1	4	1	2	1	4	2	4	rs34574649		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:43428922T>A	ENST00000406070.2	-	0	1394					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				tctttgaggttccatgggaga	0.413													12	102					0	0	0	0	A	43428922	T	A	43428922	1	1	253	0	1	0	0	0	0	0	0	0	12739	1798	62	5		5	PSG7	19	43428922	RNA	SNP	T	TCGA-CV-6938-01A-11D-1912-08	1918925	43428922	15700061	151	45571											
ZNF835	90485	broad.mit.edu	37	chr19	57175375	57175375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggacacgtggctgaaggCggccccgcattgcaggcacc	8	4	15	14	4	0	1	0	1	0	0	0	3	0	2	3	5	1	4	3	5	1	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:57175375C>T	ENST00000537055.2	-	2	1423	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGGCTGAAGGCGGCCCCGCAT	0.657													9	63					0	0	0	0	T	57175375	C	T	57175375	3	4	253	1	0	0	0	0	1	0	0	0	18279	768	27	1	423	1	ZNF835	19	57175375	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	13746453	57175375	1953608	152	45572											
SPTLC3	55304	broad.mit.edu	37	chr20	13140735	13140735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcgcagaagctcgggctCggttttgtgtttcagcggca	5	11	13	12	4	1	1	1	0	0	1	4	1	1	1	1	3	2	6	1	3	1	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:13140735C>T	ENST00000399002.2	+	11	1775	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	501					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGCTCGGGCTCGGTTTTGTGT	0.507													4	83					0	0	0	0	T	13140735	C	T	13140735	3	4	253	1	0	0	0	0	1	0	0	0	15215	875	31	1	1543	1	SPTLC3	20	13140735	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08		13140735	49884785	153	45573											
NANP	140838	broad.mit.edu	37	chr20	25604502	25604502	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggacgttacctccaacAtgcctctcctgctcgccccg	5	9	10	17	3	1	0	0	0	1	0	4	1	2	1	6	2	4	2	6	2	2	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:25604502A>T	ENST00000304788.3	-	1	309	c.83T>A	c.(82-84)aTg>aAg	p.M28K		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	28					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						TACCTCCAACATGCCTCTCCT	0.692													5	45					0	0	0	0	T	25604502	A	T	25604502	3	4	253	1	0	0	0	0	1	0	0	0	10224	217	8	5	671	5	NANP	20	25604502	Missense_Mutation	SNP	A	TCGA-CV-6938-01A-11D-1912-08	12463767	25604502	37421018	154	45574											
SGK2	10110	broad.mit.edu	37	chr20	42213608	42213608	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctggggcctcaagtgcattCctgggattttcttatgcgcc	5	14	11	11	1	3	0	1	0	2	0	4	1	4	1	3	3	2	1	3	3	2	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:42213608C>G	ENST00000373100.1	+	14	1516	c.1056C>G	c.(1054-1056)ttC>ttG	p.F352L	SGK2_ENST00000373092.3_Missense_Mutation_p.F352L|SGK2_ENST00000373077.1_Missense_Mutation_p.F351L|SGK2_ENST00000426287.1_Missense_Mutation_p.F378L|SGK2_ENST00000423407.3_Missense_Mutation_p.F352L|SGK2_ENST00000341458.4_Missense_Mutation_p.F412L			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	412	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAAGTGCATTCCTGGGATTTT	0.498													18	134					0	0	0	0	G	42213608	C	G	42213608	3	3	253	1	0	0	0	0	1	0	0	0	14296	854	30	2	1282	2	SGK2	20	42213608	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	16609106	42213608	20811912	155	45575											
DYRK1A	1859	broad.mit.edu	37	chr21	38877706	38877706	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgactacttgaagttcaaaGacctcattttaaggatgctt	12	14	7	8	0	2	3	2	2	0	1	2	4	2	4	1	1	2	2	1	1	4	6			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr21:38877706G>C	ENST00000339659.3	+	9	2803	c.1333G>C	c.(1333-1335)Gac>Cac	p.D445H	DYRK1A_ENST00000398956.2_Missense_Mutation_p.D454H|DYRK1A_ENST00000321219.8_Missense_Mutation_p.D454H|DYRK1A_ENST00000451934.1_Missense_Mutation_p.D454H|DYRK1A_ENST00000338785.3_Missense_Mutation_p.D454H|DYRK1A_ENST00000455387.2_Missense_Mutation_p.D226H|DYRK1A_ENST00000398960.2_Missense_Mutation_p.D454H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	454	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GAAGTTCAAAGACCTCATTTT	0.453													7	79					0	0	0	0	C	38877706	G	C	38877706	3	2	253	1	0	0	0	0	1	0	0	0	4890	942	33	2	1394	2	DYRK1A	21	38877706	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08		38877706	9252189	156	45576											
POTEH	23784	broad.mit.edu	37	chr22	16287402	16287402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggctccatgaaagcgctgtCgtcgtagtctccccaagggc	7	8	12	14	4	1	1	0	1	1	0	5	1	2	1	3	2	1	3	3	2	3	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:16287402C>T	ENST00000343518.6	-	1	535	c.484G>A	c.(484-486)Gac>Aac	p.D162N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	162										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AAAGCGCTGTCGTCGTAGTCT	0.587													20	185					0	0	0	0	T	16287402	C	T	16287402	3	4	253	1	0	0	0	0	1	0	0	0	12339	884	31	1	1193	1	POTEH	22	16287402	Missense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08		16287402	35017164	157	45577											
ZDHHC8	29801	broad.mit.edu	37	chr22	20127072	20127072	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggatgtgcgaggtatcCaggtccgcatgaagtggtgt	8	10	16	7	3	0	1	0	1	0	0	2	3	2	2	2	4	1	2	2	4	2	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:20127072C>T	ENST00000334554.7	+	3	439	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000405930.3_Nonsense_Mutation_p.Q100*|ZDHHC8_ENST00000320602.7_Nonsense_Mutation_p.Q100*	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	100						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GCGAGGTATCCAGGTCCGCAT	0.617													4	79					0	0	0	0	T	20127072	C	T	20127072	4	4	253	1	0	0	0	0	0	1	0	0	17716	595	21	4	308	4	ZDHHC8	22	20127072	Nonsense_Mutation	SNP	C	TCGA-CV-6938-01A-11D-1912-08	3839670	20127072	31177494	158	45578											
SUSD2	56241	broad.mit.edu	37	chr22	24583660	24583660	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccccagtgagaccaccctCaaccccagcctggcacaaga	11	5	7	18	0	1	2	1	1	0	2	2	3	2	2	7	1	2	1	7	1	2	1			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:24583660C>G	ENST00000358321.3	+	12	2274	c.2013C>G	c.(2011-2013)ctC>ctG	p.L671L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	671					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGACCACCCTCAACCCCAGCC	0.592													9	78					0	0	0	0	G	24583660	C	G	24583660	2	3	253	1	0	0	0	0	0	0	0	1	15498	813	29	2		2	SUSD2	22	24583660	Silent	SNP	C	TCGA-CV-6938-01A-11D-1912-08	4456588	24583660	26720906	159	45579											
SNRPD3	6634	broad.mit.edu	37	chr22	24953663	24953663	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtctattggtgtgccgatTaaagtactgcatgaggccga	10	12	12	7	2	1	1	0	1	1	0	1	3	1	1	2	2	3	2	2	2	4	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:24953663T>A	ENST00000215829.3	+	2	608	c.21T>A	c.(19-21)atT>atA	p.I7I	SNRPD3_ENST00000402849.1_Silent_p.I7I	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	7					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						GTGTGCCGATTAAAGTACTGC	0.478													13	93					0	0	0	0	A	24953663	T	A	24953663	2	1	253	1	0	0	0	0	0	0	0	1	14954	1742	61	5		5	SNRPD3	22	24953663	Silent	SNP	T	TCGA-CV-6938-01A-11D-1912-08	370003	24953663	26350903	160	45580											
EP300	2033	broad.mit.edu	37	chr22	41547861	41547861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagccagctgtaagcattGaaggacaggtatcaaatcct	13	8	9	11	0	1	1	1	1	0	0	2	2	2	2	3	2	3	4	3	2	4	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:41547861G>A	ENST00000263253.7	+	15	4061	c.2842G>A	c.(2842-2844)Gaa>Aaa	p.E948K		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	948					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTAAGCATTGAAGGACAGGT	0.478			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				20	121					0	0	0	0	A	41547861	G	A	41547861	3	1	253	1	0	0	0	0	1	0	0	0	5186	1291	45	2	2900	2	EP300	22	41547861	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	16594198	41547861	9756705	161	45581											
KLHL13	90293	broad.mit.edu	37	chrX	117043397	117043397	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcgaggatcaaatctgaaGactgtatcaactgccgtttt	12	13	8	8	2	3	2	2	1	1	1	4	4	3	3	1	1	2	2	1	1	5	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:117043397G>C	ENST00000371876.1	-	4	3501	c.1080C>G	c.(1078-1080)gtC>gtG	p.V360V	KLHL13_ENST00000469946.1_Silent_p.V360V|KLHL13_ENST00000541812.1_Silent_p.V395V|KLHL13_ENST00000371878.1_Silent_p.V360V|KLHL13_ENST00000371882.1_Silent_p.V360V|KLHL13_ENST00000262820.3_Silent_p.V411V|KLHL13_ENST00000540167.1_Silent_p.V395V|KLHL13_ENST00000539496.1_Silent_p.V414V|KLHL13_ENST00000545703.1_Silent_p.V369V			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	411					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAAATCTGAAGACTGTATCAA	0.413													10	44					0	0	0	0	C	117043397	G	C	117043397	2	2	253	1	0	0	0	0	0	0	0	1	8421	929	33	2		2	KLHL13	23	117043397	Silent	SNP	G	TCGA-CV-6938-01A-11D-1912-08		117043397	38227163	162	45582											
LAMP2	3920	broad.mit.edu	37	chrX	119565263	119565263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagtactcctgccaaggcaGctcccaccgctatgggcaca	10	7	9	15	1	0	0	0	0	0	0	2	0	2	0	4	2	3	5	4	2	4	3			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:119565263G>A	ENST00000200639.4	-	9	1284	c.1148C>T	c.(1147-1149)gCt>gTt	p.A383V	LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000538785.1_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	383					platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TGCCAAGGCAGCTCCCACCGC	0.448													28	98					0	0	0	0	A	119565263	G	A	119565263	3	1	253	1	0	0	0	0	1	0	0	0	8671	971	34	4	235	4	LAMP2	23	119565263	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	2521866	119565263	35705297	163	45583											
CDR1	1038	broad.mit.edu	37	chrX	139866350	139866350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcttccaggaaatccGtgtcttccagcaaatccacg	10	9	8	14	2	2	0	0	0	2	0	6	1	6	1	5	2	1	1	5	2	2	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:139866350G>A	ENST00000370532.2	-	1	373	c.182C>T	c.(181-183)aCg>aTg	p.T61M		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	61	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAGGAAATCCGTGTCTTCCAG	0.438													32	89					0	0	0	0	A	139866350	G	A	139866350	3	1	253	1	0	0	0	0	1	0	0	0	3200	1145	40	1	610	1	CDR1	23	139866350	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	20301087	139866350	15404210	164	45584											
SLITRK4	139065	broad.mit.edu	37	chrX	142718785	142718785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgatttggtctgtagactGaaaccttctcacagttgaca	10	13	9	9	0	2	4	1	3	2	1	3	4	2	4	1	1	1	3	1	1	2	4			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:142718785G>A	ENST00000381779.4	-	2	365	c.140C>T	c.(139-141)tCa>tTa	p.S47L	SLITRK4_ENST00000338017.4_Missense_Mutation_p.S47L|SLITRK4_ENST00000356928.1_Missense_Mutation_p.S47L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	47						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)					TCTGTAGACTGAAACCTTCTC	0.363													10	27					0	0	0	0	A	142718785	G	A	142718785	3	1	253	1	0	0	0	0	1	0	0	0	14833	1294	45	2	2377	2	SLITRK4	23	142718785	Missense_Mutation	SNP	G	TCGA-CV-6938-01A-11D-1912-08	2852435	142718785	12551775	165	45585											
PLXNA3	55558	broad.mit.edu	37	chrX	153689702	153689702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggctgctcctggcgcggCgtggagtaccgcttggtgca	4	9	16	12	5	0	0	0	0	0	0	2	1	1	1	2	5	3	5	2	5	1	2			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:153689702C>T	ENST00000369682.3	+	3	1033	c.858C>T	c.(856-858)ggC>ggT	p.G286G		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	286	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGCGCGGCGTGGAGTACC	0.637													22	52					0	0	0	0	T	153689702	C	T	153689702	2	4	253	1	0	0	0	0	0	0	0	1	12193	755	27	1		1	PLXNA3	23	153689702	Silent	SNP	C	TCGA-CV-6938-01A-11D-1912-08	10970917	153689702	1580858	166	45586											
CDK11A	728642	broad.mit.edu	37	chr1	1650883	1650885	+	In_Frame_Del	DEL	TCT	TCT	-																															gtttgatggccaaagaatcaTcttcttctcctctgaaataa																								rs147453611	by1000genomes	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:1650883_1650885delTCT	ENST00000356200.3	-	3	369_371	c.135_137delAGA	c.(133-138)gat>ga	p.ED45del	CDK11A_ENST00000378633.1_In_Frame_Del_p.ED79del|CDK11A_ENST00000404249.3_In_Frame_Del_p.ED79del|CDK11A_ENST00000378638.2_In_Frame_Del_p.ED45del|CDK11A_ENST00000357760.2_In_Frame_Del_p.ED79del|CDK11A_ENST00000378635.3_In_Frame_Del_p.ED79del|CDK11A_ENST00000358779.5_In_Frame_Del_p.ED79del|RP1-283E3.8_ENST00000598846.1_RNA					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CAAAGAATCATCTTCTTCTCCTC	0.394													21	386	---	---	---	---					-	1650885	TCT	-	1650883	7	5	254	1	0	1	0	1	0	0	0	0	3155	1435	50	0	2171	0	CDK11A	1	1650883	In_Frame_Del	DEL	TCT	TCGA-CV-6939-01A-11D-1912-08		1650883	247599738	1	45587											
ID3	3399	broad.mit.edu	37	chr1	23885665	23885665	+	Frame_Shift_Del	DEL	C	C	-																															gggtccaggggctggctcggCcaggactacctgcaggtcga																										TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:23885665delC	ENST00000374561.5	-	1	620	c.253delG	c.(253-255)ccfs	p.A85fs	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	85					negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCTGGCTCGGCCAGGACTACC	0.632													37	86	---	---	---	---					-	23885665	C	-	23885665	7	5	254	1	0	1	0	1	0	0	0	0	7544	739	26	0	114	0	ID3	1	23885665	Frame_Shift_Del	DEL	C	TCGA-CV-6939-01A-11D-1912-08	22234782	23885665	225364956	2	45588											
PIK3R3	8503	broad.mit.edu	37	chr1	46543232	46543232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatttttgttgaggcatctCggaccaagaaggtcccatct	9	12	10	10	1	2	2	0	1	2	1	4	3	3	3	2	3	0	3	2	3	2	3			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:46543232C>T	ENST00000262741.5	-	3	958	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	PIK3R3_ENST00000540385.1_Missense_Mutation_p.R136Q|PIK3R3_ENST00000340332.6_Missense_Mutation_p.R54Q|PIK3R3_ENST00000372006.1_Missense_Mutation_p.R90Q|PIK3R3_ENST00000423209.1_Missense_Mutation_p.R90Q|PIK3R3_ENST00000420542.1_Missense_Mutation_p.R90Q|PIK3R3_ENST00000354242.4_Missense_Mutation_p.R90Q	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	90	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TGAGGCATCTCGGACCAAGAA	0.393													25	97					0	0	0	0	T	46543232	C	T	46543232	3	4	254	1	0	0	0	0	1	0	0	0	11992	884	31	1	1148	1	PIK3R3	1	46543232	Missense_Mutation	SNP	C	TCGA-CV-6939-01A-11D-1912-08	22657567	46543232	202707389	3	45589											
CYP4A11	1579	broad.mit.edu	37	chr1	47399867	47399867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggtgatggaggctccatCacccaggaggctgtggatct	8	8	14	11	0	2	1	1	1	1	0	3	4	3	4	3	6	0	2	3	6	0	0			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:47399867C>T	ENST00000310638.4	-	8	1100	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.D358N|CYP4A11_ENST00000371905.1_Missense_Mutation_p.D357N	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	357					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GAGGCTCCATCACCCAGGAGG	0.622													14	31					0	0	0	0	T	47399867	C	T	47399867	3	4	254	1	0	0	0	0	1	0	0	0	4215	826	29	2	510	2	CYP4A11	1	47399867	Missense_Mutation	SNP	C	TCGA-CV-6939-01A-11D-1912-08	856635	47399867	201850754	4	45590											
DPH5	51611	broad.mit.edu	37	chr1	101490909	101490909	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactgaggtgtaggcttccaGatacactcgactgcagcgtc	9	9	12	11	2	0	2	0	1	0	1	3	4	1	2	1	2	3	3	1	2	2	3			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:101490909G>A	ENST00000370109.3	-	2	203	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	DPH5_ENST00000488176.1_Silent_p.L31L|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.L31L	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	31					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TAGGCTTCCAGATACACTCGA	0.507													4	52					0	0	0	0	A	101490909	G	A	101490909	2	1	254	1	0	0	0	0	0	0	0	1	4759	933	33	2		2	DPH5	1	101490909	Silent	SNP	G	TCGA-CV-6939-01A-11D-1912-08	54091042	101490909	147759712	5	45591											
TXNIP	10628	broad.mit.edu	37	chr1	145438932	145438932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttactcgtgtcaaagccGttaggatcctggcttgcgga	9	11	12	9	3	1	0	1	0	0	0	3	2	2	2	2	3	3	3	2	3	4	3			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:145438932G>A	ENST00000369317.4	+	1	464	c.130G>A	c.(130-132)Gtt>Att	p.V44I	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	44					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCAAAGCCGTTAGGATCCT	0.542													24	58					0	0	0	0	A	145438932	G	A	145438932	3	1	254	1	0	0	0	0	1	0	0	0	16899	1145	40	1	132	1	TXNIP	1	145438932	Missense_Mutation	SNP	G	TCGA-CV-6939-01A-11D-1912-08	43948023	145438932	103811689	6	45592											
LAMC2	3918	broad.mit.edu	37	chr1	183195980	183195980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctacaagagagattcagCgagactggggccttttggca	10	9	14	8	1	1	3	1	0	0	3	1	5	1	3	1	4	2	2	1	4	2	4			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:183195980C>G	ENST00000264144.4	+	9	1279	c.1214C>G	c.(1213-1215)gCg>gGg	p.A405G	LAMC2_ENST00000493293.1_Missense_Mutation_p.A405G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	405	Laminin EGF-like 4; second part.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGAGATTCAGCGAGACTGGGG	0.542													16	250					0	0	0	0	G	183195980	C	G	183195980	3	3	254	1	0	0	0	0	1	0	0	0	8668	768	27	3	1248	3	LAMC2	1	183195980	Missense_Mutation	SNP	C	TCGA-CV-6939-01A-11D-1912-08	37757048	183195980	66054641	7	45593											
RGS2	5997	broad.mit.edu	37	chr1	192778228	192778228	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctatgttcttggctgtTcaacacgactgcagacccat	9	12	9	11	1	2	1	1	0	1	1	2	2	2	1	1	1	3	5	1	1	2	4			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:192778228T>C	ENST00000235382.5	+	1	58	c.27T>C	c.(25-27)gtT>gtC	p.V9V	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	9					cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						TCTTGGCTGTTCAACACGACT	0.562													3	101					0	0	0	0	C	192778228	T	C	192778228	2	2	254	1	0	0	0	0	0	0	0	1	13385	1770	62	5		5	RGS2	1	192778228	Silent	SNP	T	TCGA-CV-6939-01A-11D-1912-08	9582248	192778228	56472393	8	45594											
MTR	4548	broad.mit.edu	37	chr1	237037074	237037074	+	Splice_Site	SNP	G	G	A																															tctcatttctgtgcctcagaGttattgatttaggagtcatg																										TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:237037074G>A	ENST00000366577.5	+	23	2801	c.2405_splice	c.e23-1	p.V803_splice	MTR_ENST00000535889.1_Splice_Site_p.V752_splice	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	803	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTGCCTCAGAGTTATTGATTT	0.353													6	35					0	0	0	0	A	237037074	G	A	237037074	5	1	254	1	0	0	0	0	0	0	1	0	10028	1043	36	4	2497	4	MTR	1	237037074	Splice_Site	SNP	G	TCGA-CV-6939-01A-11D-1912-08	44258846	237037074	12213547	9	45595	346	2									
MTR	4548	broad.mit.edu	37	chr1	237037075	237037075	+	Missense_Mutation	SNP	T	T	A																															ctcatttctgtgcctcagagTtattgatttaggagtcatga																										TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:237037075T>A	ENST00000366577.5	+	23	2802	c.2408T>A	c.(2407-2409)gTt>gAt	p.V803D	MTR_ENST00000535889.1_Missense_Mutation_p.V752D	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	803	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGCCTCAGAGTTATTGATTTA	0.353													6	35					0	0	0	0	A	237037075	T	A	237037075	3	1	254	1	0	0	0	0	1	0	0	0	10028	1725	60	5	2498	5	MTR	1	237037075	Missense_Mutation	SNP	T	TCGA-CV-6939-01A-11D-1912-08	1	237037075	12213546	10	45596	346	2									
OR2L2	26246	broad.mit.edu	37	chr1	248201982	248201982	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccatccgtataagcaaaaGagtgtgtgtgatgatgataa	14	11	10	6	1	0	4	0	3	0	1	2	4	2	4	2	0	1	2	2	0	5	3			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:248201982G>C	ENST00000366479.2	+	1	509	c.413G>C	c.(412-414)aGa>aCa	p.R138T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATAAGCAAAAGAGTGTGTGTG	0.438													5	143					0	0	0	0	C	248201982	G	C	248201982	3	2	254	1	0	0	0	0	1	0	0	0	11078	942	33	2	415	2	OR2L2	1	248201982	Missense_Mutation	SNP	G	TCGA-CV-6939-01A-11D-1912-08	11164907	248201982	1048639	11	45597											
SH3RF3	344558	broad.mit.edu	37	chr2	110053585	110053585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaacggccagccaagcccGgagcaccatttcaacaggta	12	4	10	15	2	1	0	1	0	0	0	1	1	1	1	5	3	5	2	5	3	4	2			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr2:110053585G>C	ENST00000309415.6	+	7	1811	c.1811G>C	c.(1810-1812)cGg>cCg	p.R604P		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	604							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGCCAAGCCCGGAGCACCATT	0.642													7	18					0	0	0	0	C	110053585	G	C	110053585	3	2	254	1	0	0	0	0	1	0	0	0	14348	1116	39	3	1837	3	SH3RF3	2	110053585	Missense_Mutation	SNP	G	TCGA-CV-6939-01A-11D-1912-08		110053585	133145788	12	45598											
LRP2	4036	broad.mit.edu	37	chr2	170099522	170099522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaccatcacaacgatttGtgacgccaatacatttatcc	15	10	4	12	2	1	1	1	1	0	0	2	2	2	1	3	0	3	0	3	0	5	4			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr2:170099522G>A	ENST00000263816.3	-	24	3896	c.3611C>T	c.(3610-3612)aCa>aTa	p.T1204I	LRP2_ENST00000443831.1_Missense_Mutation_p.T1067I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1204	LDL-receptor class A 12.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAACGATTTGTGACGCCAAT	0.403													36	74					0	0	0	0	A	170099522	G	A	170099522	3	1	254	1	0	0	0	0	1	0	0	0	9020	1377	48	4	10580	4	LRP2	2	170099522	Missense_Mutation	SNP	G	TCGA-CV-6939-01A-11D-1912-08	60045937	170099522	73099851	13	45599											
PIK3R4	30849	broad.mit.edu	37	chr3	130452855	130452855	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacgtttccttggcaaactgGgccatgtagggctgaagaaa	12	9	12	8	1	0	2	0	1	0	1	1	2	1	2	2	3	2	4	2	3	5	3			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr3:130452855G>C	ENST00000356763.3	-	4	1544	c.987C>G	c.(985-987)gcC>gcG	p.A329A		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	329					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						TGGCAAACTGGGCCATGTAGG	0.428													25	127					0	0	0	0	C	130452855	G	C	130452855	2	2	254	1	0	0	0	0	0	0	0	1	11993	1219	43	4		4	PIK3R4	3	130452855	Silent	SNP	G	TCGA-CV-6939-01A-11D-1912-08		130452855	67569575	14	45600											
SLC9A9	285195	broad.mit.edu	37	chr3	142985669	142985669	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttctggtccagacctaGccttgcaggaggactgcagg	8	9	13	11	0	1	1	0	0	1	1	2	3	2	3	3	4	4	3	3	4	1	3			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr3:142985669G>A	ENST00000316549.6	-	16	2021	c.1813C>T	c.(1813-1815)Cta>Tta	p.L605L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	605					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGACCTAGCCTTGCAGGA	0.507													34	80					0	0	0	0	A	142985669	G	A	142985669	2	1	254	1	0	0	0	0	0	0	0	1	14809	962	34	4		4	SLC9A9	3	142985669	Silent	SNP	G	TCGA-CV-6939-01A-11D-1912-08	12532814	142985669	55036761	15	45601											
CC2D2A	57545	broad.mit.edu	37	chr4	15556747	15556747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggcacatcaggactgacaGacatgaaaaaattggccaag	16	7	10	8	0	1	3	1	2	0	1	1	4	1	4	1	3	0	1	1	3	4	2			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr4:15556747G>A	ENST00000424120.1	+	20	2793	c.2539G>A	c.(2539-2541)Gac>Aac	p.D847N	CC2D2A_ENST00000503292.1_Missense_Mutation_p.D847N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D847N|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D798N			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	847					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGGACTGACAGACATGAAAAA	0.468													12	24					0	0	0	0	A	15556747	G	A	15556747	3	1	254	1	0	0	0	0	1	0	0	0	2753	942	33	2	2816	2	CC2D2A	4	15556747	Missense_Mutation	SNP	G	TCGA-CV-6939-01A-11D-1912-08		15556747	175597529	16	45602											
AFF1	4299	broad.mit.edu	37	chr4	88029324	88029324	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagtgctccacagtccCttccagaaccagtggcatca	9	10	8	14	0	1	1	1	0	0	1	4	1	4	1	4	1	3	3	4	1	1	2			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr4:88029324C>G	ENST00000307808.6	+	10	1789	c.1369C>G	c.(1369-1371)Ctt>Gtt	p.L457V	AFF1_ENST00000544085.1_Missense_Mutation_p.L95V|AFF1_ENST00000395146.4_Missense_Mutation_p.L464V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	457						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCACAGTCCCTTCCAGAACC	0.478													9	78					0	0	0	0	G	88029324	C	G	88029324	3	3	254	1	0	0	0	0	1	0	0	0	356	681	24	4	1449	4	AFF1	4	88029324	Missense_Mutation	SNP	C	TCGA-CV-6939-01A-11D-1912-08	72472577	88029324	103124952	17	45603											
TBCK	93627	broad.mit.edu	37	chr4	107092375	107092382	+	Frame_Shift_Del	DEL	AGTCCAAC	AGTCCAAC	-																															ctgtaagtagcacttttaggAgtccaacaaaacaggttgat																										TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr4:107092375_107092382delAGTCCAAC	ENST00000273980.4	-	24	2552_2559	c.2105_2112delGTTGGACT	c.(2104-2112)tfs	p.CWT702fs	TBCK_ENST00000361687.4_Frame_Shift_Del_p.CWT639fs|TBCK_ENST00000432496.2_Frame_Shift_Del_p.CWT702fs|TBCK_ENST00000394708.2_Frame_Shift_Del_p.CWT702fs|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000394706.3_Frame_Shift_Del_p.CWT663fs			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	702						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CACTTTTAGGAGTCCAACAAAACAGGTT	0.389													9	128	---	---	---	---					-	107092382	AGTCCAAC	-	107092375	7	5	254	1	0	1	0	1	0	0	0	0	15730	291	11	0	585	0	TBCK	4	107092375	Frame_Shift_Del	DEL	AGTCCAAC	TCGA-CV-6939-01A-11D-1912-08	19063051	107092375	84061901	18	45604											
GEMIN5	25929	broad.mit.edu	37	chr5	154296703	154296703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgttggatagtacagatCagtttcaggttgggaatctg	9	14	13	5	0	3	1	2	0	1	1	3	3	3	3	0	3	2	5	0	3	3	5			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr5:154296703C>T	ENST00000285873.7	-	13	1785	c.1710G>A	c.(1708-1710)ctG>ctA	p.L570L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	570					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGTACAGATCAGTTTCAGGT	0.393													12	142					0	0	0	0	T	154296703	C	T	154296703	2	4	254	1	0	0	0	0	0	0	0	1	6382	813	29	2		2	GEMIN5	5	154296703	Silent	SNP	C	TCGA-CV-6939-01A-11D-1912-08		154296703	26618557	19	45605											
SYNE1	23345	broad.mit.edu	37	chr6	152466628	152466628	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgttgtgcctaccggaggTatttttgattgcattttctg	5	19	10	7	1	1	1	0	1	1	0	1	2	1	2	2	2	3	3	2	2	2	9			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr6:152466628T>G	ENST00000448038.1	-	138	25427	c.24826A>C	c.(24826-24828)Acc>Ccc	p.T8276P	SYNE1_ENST00000354674.4_Missense_Mutation_p.T502P|SYNE1_ENST00000539504.1_Intron|SYNE1_ENST00000367255.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8276P|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000341594.5_Intron			Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8324					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTACCGGAGGTATTTTTGATT	0.488										HNSCC(10;0.0054)			6	40					0	0	0	0	G	152466628	T	G	152466628	3	3	254	1	0	0	0	0	1	0	0	0	15536	1638	57	5	1463	5	SYNE1	6	152466628	Missense_Mutation	SNP	T	TCGA-CV-6939-01A-11D-1912-08		152466628	18648439	20	45606											
HECW1	23072	broad.mit.edu	37	chr7	43484116	43484116	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccaggtgcaaaaggacAtccagcctgcccccagtgca	10	5	11	15	0	0	0	0	0	0	0	1	1	1	1	5	3	4	2	5	3	2	0			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr7:43484116A>C	ENST00000395891.1	+	11	1950	c.1345A>C	c.(1345-1347)Atc>Ctc	p.I449L	HECW1_ENST00000453890.1_Missense_Mutation_p.I449L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	449					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAAAAGGACATCCAGCCTGC	0.642													3	20					0	0	0	0	C	43484116	A	C	43484116	3	2	254	1	0	0	0	0	1	0	0	0	7092	217	8	5	1379	5	HECW1	7	43484116	Missense_Mutation	SNP	A	TCGA-CV-6939-01A-11D-1912-08		43484116	115654547	21	45607											
ESYT2	57488	broad.mit.edu	37	chr7	158528232	158528232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttggacaggaagccgcCactgttcttcacggcaacgt	8	10	11	12	3	3	0	1	0	2	0	3	2	3	2	2	3	2	2	2	3	2	3			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr7:158528232C>G	ENST00000251527.5	-	20	2613	c.2548G>C	c.(2548-2550)Ggc>Cgc	p.G850R	ESYT2_ENST00000435514.2_Missense_Mutation_p.G285R	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	878	C2 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						AGGAAGCCGCCACTGTTCTTC	0.458													4	148					0	0	0	0	G	158528232	C	G	158528232	3	3	254	1	0	0	0	0	1	0	0	0	5303	594	21	4	145	4	ESYT2	7	158528232	Missense_Mutation	SNP	C	TCGA-CV-6939-01A-11D-1912-08	115044116	158528232	610431	22	45608											
CHRNB3	1142	broad.mit.edu	37	chr8	42552689	42552689	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttctgaaactgacatcacGatgctcccagattttatgct	10	14	6	11	1	2	3	1	2	1	1	3	4	3	3	1	0	3	2	1	0	2	3			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr8:42552689G>A	ENST00000289957.2	+	0	128				CHRNB3_ENST00000531610.1_3'UTR	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)						synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGACATCACGATGCTCCCAG	0.393													12	61					0	0	0	0	A	42552689	G	A	42552689	1	1	254	1	0	0	0	0	0	0	0	0	3421	1073	37	1		1	CHRNB3	8	42552689	Translation_Start_Site	SNP	G	TCGA-CV-6939-01A-11D-1912-08		42552689	103811333	23	45609											
TERF1	7013	broad.mit.edu	37	chr8	73921394	73921394	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttgccgagctttccgCgacggccgctccgaggactt	4	11	11	15	6	1	0	0	0	1	0	4	4	3	1	4	2	2	2	4	2	0	3			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr8:73921394C>T	ENST00000276602.6	+	1	296	c.273C>T	c.(271-273)cgC>cgT	p.R91R	TERF1_ENST00000276603.5_Silent_p.R91R	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	91	TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GAGCTTTCCGCGACGGCCGCT	0.716													13	39					0	0	0	0	T	73921394	C	T	73921394	2	4	254	1	0	0	0	0	0	0	0	1	15855	755	27	1		1	TERF1	8	73921394	Silent	SNP	C	TCGA-CV-6939-01A-11D-1912-08	31368705	73921394	72442628	24	45610											
TAF1L	138474	broad.mit.edu	37	chr9	32631389	32631389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaccatagggtctgtgcGgcgtcggtggatggacttat	6	11	15	9	4	2	0	1	0	1	0	3	2	2	2	1	5	1	0	1	5	2	2			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr9:32631389G>A	ENST00000242310.4	-	1	4278	c.4189C>T	c.(4189-4191)Cgc>Tgc	p.R1397C		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1397					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGGTCTGTGCGGCGTCGGTGG	0.468													52	231					0	0	0	0	A	32631389	G	A	32631389	3	1	254	1	0	0	0	0	1	0	0	0	15614	1116	39	1	1295	1	TAF1L	9	32631389	Missense_Mutation	SNP	G	TCGA-CV-6939-01A-11D-1912-08		32631389	108582042	25	45611											
POMT1	10585	broad.mit.edu	37	chr9	134386815	134386815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtctttgggaaacctgtgcCctgctggcttcattcccacc	5	12	9	15	1	2	0	1	0	1	0	3	1	3	1	4	2	3	2	4	2	1	3			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr9:134386815C>G	ENST00000423007.1	+	10	1389	c.947C>G	c.(946-948)cCc>cGc	p.P316R	POMT1_ENST00000354713.4_Missense_Mutation_p.P286R|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000372228.3_Missense_Mutation_p.P338R|POMT1_ENST00000419118.2_Missense_Mutation_p.P164R|POMT1_ENST00000541219.1_Missense_Mutation_p.P94R|POMT1_ENST00000341012.7_Missense_Mutation_p.P262R|POMT1_ENST00000402686.3_Missense_Mutation_p.P316R|POMT1_ENST00000404875.2_Missense_Mutation_p.P199R	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	338					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AAACCTGTGCCCTGCTGGCTT	0.498													28	92					0	0	0	0	G	134386815	C	G	134386815	3	3	254	1	0	0	0	0	1	0	0	0	12317	623	22	4	1047	4	POMT1	9	134386815	Missense_Mutation	SNP	C	TCGA-CV-6939-01A-11D-1912-08	101755426	134386815	6826616	26	45612											
FCN1	2219	broad.mit.edu	37	chr9	137801845	137801845	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaactcacatcattgtcttgGtctttggtggagaagaagtt	10	14	11	6	0	4	2	2	0	2	2	4	4	4	2	0	3	1	1	0	3	3	4			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr9:137801845G>A	ENST00000371806.3	-	9	871	c.780C>T	c.(778-780)gaC>gaT	p.D260D		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	260	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CATTGTCTTGGTCTTTGGTGG	0.483													57	260					0	0	0	0	A	137801845	G	A	137801845	2	1	254	1	0	0	0	0	0	0	0	1	5836	1252	44	4		4	FCN1	9	137801845	Silent	SNP	G	TCGA-CV-6939-01A-11D-1912-08	3415030	137801845	3411586	27	45613											
GFRA1	2674	broad.mit.edu	37	chr10	117884861	117884861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcgatgtcccggcaggagCagaagagcattccgtagctg	10	6	15	10	3	0	2	0	0	0	2	2	4	2	3	2	3	3	5	2	3	2	2			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr10:117884861C>T	ENST00000439649.3	-	5	993	c.626G>A	c.(625-627)tGc>tAc	p.C209Y	GFRA1_ENST00000544592.1_Missense_Mutation_p.C93Y|GFRA1_ENST00000355422.6_Missense_Mutation_p.C214Y|GFRA1_ENST00000369236.1_Missense_Mutation_p.C209Y	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	214					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCGGCAGGAGCAGAAGAGCAT	0.587													9	43					0	0	0	0	T	117884861	C	T	117884861	3	4	254	1	0	0	0	0	1	0	0	0	6398	710	25	4	780	4	GFRA1	10	117884861	Missense_Mutation	SNP	C	TCGA-CV-6939-01A-11D-1912-08		117884861	17649886	28	45614											
PAOX	196743	broad.mit.edu	37	chr10	135195045	135195045	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaagcctgtgaagaccatCcactggaacgggtccttcca	11	7	11	12	1	0	3	0	1	0	2	3	5	3	4	5	2	2	0	5	2	3	1			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr10:135195045C>A	ENST00000278060.5	+	3	833	c.750C>A	c.(748-750)atC>atA	p.I250I	PAOX_ENST00000357296.3_Silent_p.I250I|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000480071.2_Silent_p.I250I|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	388					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TGAAGACCATCCACTGGAACG	0.572													10	53					2.17888e-05	3.4862e-05	1	0	A	135195045	C	A	135195045	2	1	254	1	0	0	0	0	0	0	0	1	11494	845	30	2		2	PAOX	10	135195045	Silent	SNP	C	TCGA-CV-6939-01A-11D-1912-08	17310184	135195045	339702	29	45615											
NPAS4	266743	broad.mit.edu	37	chr11	66191328	66191328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggaagcctggagcctcCgccagcagttgaactctgaa	11	7	11	12	1	1	2	0	2	1	0	2	4	2	4	4	2	4	2	4	2	3	1			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:66191328C>T	ENST00000311034.2	+	7	1143	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	323					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGAGCCTCCGCCAGCAGTT	0.552													28	101					0	0	0	0	T	66191328	C	T	66191328	3	4	254	1	0	0	0	0	1	0	0	0	10635	652	23	1	993	1	NPAS4	11	66191328	Missense_Mutation	SNP	C	TCGA-CV-6939-01A-11D-1912-08		66191328	68815188	30	45616											
LRFN4	78999	broad.mit.edu	37	chr11	66627262	66627262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccatttctccacgctgccgGcctcgcccctgtgccacgcc	3	8	8	22	4	1	0	0	0	1	0	3	0	1	0	8	1	2	1	8	1	0	1			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:66627262G>T	ENST00000309602.4	+	2	1747	c.1504G>T	c.(1504-1506)Gcc>Tcc	p.A502S	PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	502						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CACGCTGCCGGCCTCGCCCCT	0.692													4	11					0.00024832	0.000383371	1	0	T	66627262	G	T	66627262	3	4	254	1	0	0	0	0	1	0	0	0	9004	1203	42	4	1510	4	LRFN4	11	66627262	Missense_Mutation	SNP	G	TCGA-CV-6939-01A-11D-1912-08	435934	66627262	68379254	31	45617											
NUMA1	4926	broad.mit.edu	37	chr11	71725192	71725192	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcagtgcctccagcttgggGcctgttggctctgtcctgcc	2	11	13	15	1	1	0	0	0	1	0	3	0	3	0	5	3	3	4	5	3	0	2			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:71725192G>A	ENST00000393695.3	-	15	3688	c.3357C>T	c.(3355-3357)ggC>ggT	p.G1119G	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.G1119G	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1119					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCAGCTTGGGGCCTGTTGGCT	0.602			T	RARA	APL								33	61					0	0	0	0	A	71725192	G	A	71725192	2	1	254	1	0	0	0	0	0	0	0	1	10821	1190	42	4		4	NUMA1	11	71725192	Silent	SNP	G	TCGA-CV-6939-01A-11D-1912-08	5097930	71725192	63281324	32	45618											
FCHSD2	9873	broad.mit.edu	37	chr11	72696108	72696108	+	Splice_Site	DEL	T	T	-																															acacttattgaaaacttaccTttacacttgccttctgtaaa																										TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:72696108delT	ENST00000409314.1	-	7	743	c.576_splice	c.e7+1	p.K192_splice	FCHSD2_ENST00000311172.7_Splice_Site_p.K136_splice|FCHSD2_ENST00000409853.1_Splice_Site_p.K136_splice|FCHSD2_ENST00000458644.2_Splice_Site_p.K32_splice|FCHSD2_ENST00000409418.4_Splice_Site_p.K192_splice			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	192							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AAAACTTACCTTTACACTTGC	0.289													2	4	---	---	---	---					-	72696108	T	-	72696108	8	5	254	1	0	1	0	1	0	0	1	0	5835	1623	56	0	1703	0	FCHSD2	11	72696108	Splice_Site	DEL	T	TCGA-CV-6939-01A-11D-1912-08	970916	72696108	62310408	33	45619											
TBCEL	219899	broad.mit.edu	37	chr11	120957788	120957788	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atggagataaaatttacgtgGaatccaaaacaaaataacct	20	9	6	6	1	0	1	0	0	0	1	1	3	1	2	2	2	3	0	2	2	9	4			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:120957788G>C	ENST00000422003.2	+	8	1446	c.1258G>C	c.(1258-1260)Gaa>Caa	p.E420Q	TBCEL_ENST00000529397.1_Missense_Mutation_p.E420Q	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	420	Ubiquitin-like.					cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AATTTACGTGGAATCCAAAAC	0.413													8	16					0	0	0	0	C	120957788	G	C	120957788	3	2	254	1	0	0	0	0	1	0	0	0	15729	1175	41	2	1284	2	TBCEL	11	120957788	Missense_Mutation	SNP	G	TCGA-CV-6939-01A-11D-1912-08	48261680	120957788	14048728	34	45620											
ACAD10	80724	broad.mit.edu	37	chr12	112182675	112182675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttccccagctcatacctCaaggggaggtctggttatct	8	11	10	12	0	4	0	2	0	2	0	5	1	5	1	3	4	3	3	3	4	3	3			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr12:112182675C>T	ENST00000455480.2	+	14	2213	c.2036C>T	c.(2035-2037)tCa>tTa	p.S679L	ACAD10_ENST00000313698.4_Missense_Mutation_p.S648L|ACAD10_ENST00000392636.2_Missense_Mutation_p.S250L|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.S648L	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	648							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCTCATACCTCAAGGGGAGGT	0.582													4	58					0	0	0	0	T	112182675	C	T	112182675	3	4	254	1	0	0	0	0	1	0	0	0	108	838	29	2	2086	2	ACAD10	12	112182675	Missense_Mutation	SNP	C	TCGA-CV-6939-01A-11D-1912-08		112182675	21669220	35	45621											
RB1	5925	broad.mit.edu	37	chr13	49039220	49039220	+	Frame_Shift_Del	DEL	A	A	-																															ttcatgcagagactgaaaacAaatattttgcagtatgcttc																										TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr13:49039220delA	ENST00000267163.4	+	22	2436	c.2298delA	c.(2296-2298)acfs	p.T766fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	766	Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GACTGAAAACAAATATTTTGC	0.338		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			13	22	---	---	---	---					-	49039220	A	-	49039220	7	5	254	1	0	1	0	1	0	0	0	0	13180	117	5	0	2384	0	RB1	13	49039220	Frame_Shift_Del	DEL	A	TCGA-CV-6939-01A-11D-1912-08		49039220	66130658	36	45622											
SLITRK5	26050	broad.mit.edu	37	chr13	88329290	88329290	+	Frame_Shift_Del	DEL	G	G	-																															ttgccagtgagtggagttttGgaccagctgaagtcactcat																										TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr13:88329290delG	ENST00000325089.6	+	2	1866	c.1647delG	c.(1645-1647)ttfs	p.L549fs	SLITRK5_ENST00000400028.3_Frame_Shift_Del_p.L308fs	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	549						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTGGAGTTTTGGACCAGCTGA	0.537													38	129	---	---	---	---					-	88329290	G	-	88329290	7	5	254	1	0	1	0	1	0	0	0	0	14834	1339	47	0	1649	0	SLITRK5	13	88329290	Frame_Shift_Del	DEL	G	TCGA-CV-6939-01A-11D-1912-08	39290070	88329290	26840588	37	45623											
SLC15A1	6564	broad.mit.edu	37	chr13	99340612	99340612	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttattgtgaagccttttcTatcaaaataaagaataatat	16	15	5	5	0	2	2	1	1	1	1	2	2	2	2	1	0	1	1	1	0	10	8			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr13:99340612T>C	ENST00000376503.5	-	20	1630		c.e20-2			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AAGCCTTTTCTATCAAAATAA	0.303													3	57					0	0	0	0	C	99340612	T	C	99340612	5	2	254	1	0	0	0	0	0	0	1	0	14486	1536	53	5	569	5	SLC15A1	13	99340612	Splice_Site	SNP	T	TCGA-CV-6939-01A-11D-1912-08	11011322	99340612	15829266	38	45624											
TRAF3	7187	broad.mit.edu	37	chr14	103363738	103363738	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaatccttcatttacaGgtaagaatcttaggactacg	14	12	6	9	1	2	1	1	0	1	1	4	2	4	2	2	2	2	1	2	2	7	6			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr14:103363738G>A	ENST00000560371.1	+	9	1177	c.960_splice	c.e9+1	p.Q320_splice	TRAF3_ENST00000351691.5_Splice_Site_p.Q295_splice|TRAF3_ENST00000539721.1_Splice_Site_p.Q237_splice|TRAF3_ENST00000392745.2_Splice_Site_p.Q320_splice|TRAF3_ENST00000347662.4_Splice_Site_p.Q295_splice	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	320					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TTCATTTACAGGTAAGAATCT	0.403													3	16					0	0	0	0	A	103363738	G	A	103363738	5	1	254	1	0	0	0	0	0	0	1	0	16534	1014	35	4	990	4	TRAF3	14	103363738	Splice_Site	SNP	G	TCGA-CV-6939-01A-11D-1912-08		103363738	3985802	39	45625											
NEDD4	4734	broad.mit.edu	37	chr15	56130006	56130006	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctttaaaagcagccattTgcttctggattcggtttaca	9	15	7	10	1	2	0	0	0	2	0	3	1	2	1	2	2	4	3	2	2	3	7			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr15:56130006T>G	ENST00000508342.1	-	20	3799	c.3500A>C	c.(3499-3501)cAa>cCa	p.Q1167P	NEDD4_ENST00000435532.3_Missense_Mutation_p.Q748P|NEDD4_ENST00000506154.1_Missense_Mutation_p.Q1151P|NEDD4_ENST00000338963.2_Missense_Mutation_p.Q1095P			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1167	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGCAGCCATTTGCTTCTGGAT	0.328													4	19					0	0	0	0	G	56130006	T	G	56130006	3	3	254	1	0	0	0	0	1	0	0	0	10380	1812	63	5	483	5	NEDD4	15	56130006	Missense_Mutation	SNP	T	TCGA-CV-6939-01A-11D-1912-08		56130006	46401386	40	45626											
IQGAP1	8826	broad.mit.edu	37	chr15	91040514	91040516	+	In_Frame_Del	DEL	TCG	TCG	-																															aacagaagaagttggagactTcgaagtgaaagccaaattca																										TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr15:91040514_91040516delTCG	ENST00000268182.5	+	37	4926_4928	c.4802_4804delTCG	c.(4801-4806)taa>t	p.FE1601del	IQGAP1_ENST00000560738.1_In_Frame_Del_p.FE1029del	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1601	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTGGAGACTTCGAAGTGAAAGC	0.345													9	33	---	---	---	---					-	91040516	TCG	-	91040514	7	5	254	1	0	1	0	1	0	0	0	0	7867	1783	62	0	4948	0	IQGAP1	15	91040514	In_Frame_Del	DEL	TCG	TCGA-CV-6939-01A-11D-1912-08	34910508	91040514	11490878	41	45627											
MYLPF	29895	broad.mit.edu	37	chr16	30387481	30387481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggccttcactgtgatcGaccagaaccgtgatggtatt	9	10	10	12	2	1	3	1	2	0	1	2	4	1	3	4	2	1	1	4	2	2	3			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr16:30387481G>T	ENST00000322861.7	+	3	193	c.112G>T	c.(112-114)Gac>Tac	p.D38Y		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	38	EF-hand 1.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			CACTGTGATCGACCAGAACCG	0.607													9	45					2.52707e-12	4.27658e-12	1	0	T	30387481	G	T	30387481	3	4	254	1	0	0	0	0	1	0	0	0	10130	1058	37	3	122	3	MYLPF	16	30387481	Missense_Mutation	SNP	G	TCGA-CV-6939-01A-11D-1912-08		30387481	59967272	42	45628											
KCTD19	146212	broad.mit.edu	37	chr16	67335719	67335719	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatccggtaccaccttacGgcttcagtgagtgcagggat	8	11	11	11	2	2	1	2	1	0	0	3	2	3	2	3	3	3	3	3	3	2	4			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr16:67335719G>C	ENST00000304372.5	-	5	805	c.750C>G	c.(748-750)gcC>gcG	p.A250A	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	250						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ACCACCTTACGGCTTCAGTGA	0.468													18	186					0	0	0	0	C	67335719	G	C	67335719	2	2	254	1	0	0	0	0	0	0	0	1	8159	1103	39	3		3	KCTD19	16	67335719	Silent	SNP	G	TCGA-CV-6939-01A-11D-1912-08	36948238	67335719	23019034	43	45629											
ALOX15B	247	broad.mit.edu	37	chr17	7942598	7942598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgcccctggacaatctcgGcaaggagttcactgcgggcg	8	7	13	13	3	2	0	1	0	1	0	3	2	2	2	2	4	2	2	2	4	2	1			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr17:7942598G>T	ENST00000380183.4	+	1	264	c.125G>T	c.(124-126)gGc>gTc	p.G42V	ALOX15B_ENST00000573359.1_Missense_Mutation_p.G42V|ALOX15B_ENST00000380173.2_Missense_Mutation_p.G42V|ALOX15B_ENST00000572022.1_Missense_Mutation_p.G42V	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	42	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GACAATCTCGGCAAGGAGTTC	0.652													15	54					5.3912e-06	8.95143e-06	1	0	T	7942598	G	T	7942598	3	4	254	1	0	0	0	0	1	0	0	0	539	1203	42	4	127	4	ALOX15B	17	7942598	Missense_Mutation	SNP	G	TCGA-CV-6939-01A-11D-1912-08		7942598	73252612	44	45630											
MYO15A	51168	broad.mit.edu	37	chr17	18055176	18055176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaaggatggcgggaaaGtgttcatgaagcggccagac	13	5	16	7	2	1	2	1	1	0	1	1	5	1	5	1	5	1	1	1	5	3	1			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr17:18055176G>A	ENST00000205890.5	+	41	8142	c.7804G>A	c.(7804-7806)Gtg>Atg	p.V2602M		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2602	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCGGGAAAGTGTTCATGAA	0.567													3	13					0	0	0	0	A	18055176	G	A	18055176	3	1	254	1	0	0	0	0	1	0	0	0	10133	1029	36	4	7958	4	MYO15A	17	18055176	Missense_Mutation	SNP	G	TCGA-CV-6939-01A-11D-1912-08	10112578	18055176	63140034	45	45631											
IGFBP4	3487	broad.mit.edu	37	chr17	38610286	38610286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccccatccccaactgcgAccgcaacggcaacttccacc	10	5	5	21	3	0	0	0	0	0	0	3	1	3	0	7	1	4	2	7	1	3	1			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr17:38610286A>G	ENST00000269593.4	+	3	889	c.614A>G	c.(613-615)gAc>gGc	p.D205G	IGFBP4_ENST00000542955.1_Missense_Mutation_p.D105G	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	205	Thyroglobulin type-1.				DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCCAACTGCGACCGCAACGGC	0.672													3	138					0	0	0	0	G	38610286	A	G	38610286	3	3	254	1	0	0	0	0	1	0	0	0	7634	275	10	5	624	5	IGFBP4	17	38610286	Missense_Mutation	SNP	A	TCGA-CV-6939-01A-11D-1912-08	20555110	38610286	42584924	46	45632											
CDH19	28513	broad.mit.edu	37	chr18	64172339	64172339	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtataggctcctgatctCagcgcttgtggttttccgag	5	14	11	11	2	1	1	1	1	1	0	4	2	3	1	3	2	1	4	3	2	2	5			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr18:64172339C>A	ENST00000262150.2	-	12	2321	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	677					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTCCTGATCTCAGCGCTTGTG	0.483													47	128					3.54909e-21	6.12392e-21	1	0	A	64172339	C	A	64172339	4	1	254	1	0	0	0	0	0	1	0	0	3133	835	29	2	293	2	CDH19	18	64172339	Nonsense_Mutation	SNP	C	TCGA-CV-6939-01A-11D-1912-08		64172339	13904909	47	45633											
DNMT1	1786	broad.mit.edu	37	chr19	10251810	10251810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttccctttgtttccaGggctacgggcatggttggga	4	13	13	11	1	0	0	0	0	0	0	2	1	2	1	3	4	2	4	3	4	1	5			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr19:10251810G>T	ENST00000340748.4	-	30	3552	c.3317C>A	c.(3316-3318)cCt>cAt	p.P1106H	DNMT1_ENST00000359526.4_Missense_Mutation_p.P1122H|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1106H|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1106					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTTGTTTCCAGGGCTACGGGC	0.458													6	161					0.000157383	0.000247317	1	0	T	10251810	G	T	10251810	3	4	254	1	0	0	0	0	1	0	0	0	4711	1000	35	4	1577	4	DNMT1	19	10251810	Missense_Mutation	SNP	G	TCGA-CV-6939-01A-11D-1912-08		10251810	48877173	48	45634											
ZNF180	7733	broad.mit.edu	37	chr19	44981990	44981990	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattctcattaatcttctgAtgactgtttacagcagcatt	10	17	5	9	0	4	2	2	2	3	0	5	2	4	2	0	0	3	3	0	0	2	6			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr19:44981990A>G	ENST00000221327.4	-	5	989	c.708T>C	c.(706-708)caT>caC	p.H236H	ZNF180_ENST00000592529.1_Silent_p.H209H|ZNF180_ENST00000391956.4_Silent_p.H211H	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TAATCTTCTGATGACTGTTTA	0.343													9	67					0	0	0	0	G	44981990	A	G	44981990	2	3	254	1	0	0	0	0	0	0	0	1	17843	330	12	5		5	ZNF180	19	44981990	Silent	SNP	A	TCGA-CV-6939-01A-11D-1912-08	34730180	44981990	14146993	49	45635											
SEL1L2	80343	broad.mit.edu	37	chr20	13856747	13856747	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttgcggcacggcagcattCccctctaaatacatctagga	10	11	8	12	2	2	0	0	0	2	0	3	1	3	1	2	3	3	3	2	3	4	6			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:13856747C>A	ENST00000284951.5	-	12	1115	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G	SEL1L2_ENST00000378072.5_Silent_p.G347G|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	347						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGGCAGCATTCCCCTCTAAAT	0.363													9	145					0.000274275	0.000416142	1	0	A	13856747	C	A	13856747	2	1	254	1	0	0	0	0	0	0	0	1	14098	842	30	2		2	SEL1L2	20	13856747	Silent	SNP	C	TCGA-CV-6939-01A-11D-1912-08		13856747	49168773	50	45636											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31973565	31973565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacacatgttgtcacagcctCgcatgattgacctggagaag	11	10	10	10	1	1	3	1	2	0	1	2	4	1	3	2	1	2	2	2	1	2	3			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:31973565C>T	ENST00000357886.4	-	7	920	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R166Q|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R256Q			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	256					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GTCACAGCCTCGCATGATTGA	0.493													10	110					0	0	0	0	T	31973565	C	T	31973565	3	4	254	1	0	0	0	0	1	0	0	0	3174	884	31	1	1028	1	CDK5RAP1	20	31973565	Missense_Mutation	SNP	C	TCGA-CV-6939-01A-11D-1912-08	18116818	31973565	31051955	51	45637											
PRPF6	24148	broad.mit.edu	37	chr20	62660829	62660829	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatgacccccatgtgcTcctggccgtggccaagtgag	7	8	13	13	1	0	3	0	3	0	0	1	3	1	3	5	2	2	2	5	2	1	0			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:62660829T>C	ENST00000535781.1	+	18	2522	c.2411T>C	c.(2410-2412)cTc>cCc	p.L804P	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	844					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CCCCATGTGCTCCTGGCCGTG	0.592													13	58					0	0	0	0	C	62660829	T	C	62660829	3	2	254	1	0	0	0	0	1	0	0	0	12654	1551	54	5	2605	5	PRPF6	20	62660829	Missense_Mutation	SNP	T	TCGA-CV-6939-01A-11D-1912-08	30687264	62660829	364691	52	45638											
ALG12	79087	broad.mit.edu	37	chr22	50307071	50307071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttggacatttctaacagcGaaagcacgtaaaccgcgggg	13	7	11	10	4	1	0	0	0	1	0	1	2	1	1	1	3	4	2	1	3	4	4			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr22:50307071G>A	ENST00000330817.5	-	3	530	c.257C>T	c.(256-258)tCg>tTg	p.S86L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	86					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTAACAGCGAAAGCACGTA	0.552													6	77					0	0	0	0	A	50307071	G	A	50307071	3	1	254	1	0	0	0	0	1	0	0	0	514	1059	37	1	1241	1	ALG12	22	50307071	Missense_Mutation	SNP	G	TCGA-CV-6939-01A-11D-1912-08		50307071	997495	53	45639											
MED12	9968	broad.mit.edu	37	chrX	70339729	70339729	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacgcaactagccaaaaaggTaaggtactgtttcctgtcct	12	10	8	11	1	0	0	0	0	0	0	2	0	2	0	3	2	3	4	3	2	6	4			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chrX:70339729T>G	ENST00000333646.6	+	3	595		c.e3+2		MED12_ENST00000374102.1_Splice_Site|MED12_ENST00000374080.3_Splice_Site	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12						androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCCAAAAAGGTAAGGTACTGT	0.512			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	8					0	0	0	0	G	70339729	T	G	70339729	5	3	254	1	0	0	0	0	0	0	1	0	9497	1652	57	5	408	5	MED12	23	70339729	Splice_Site	SNP	T	TCGA-CV-6939-01A-11D-1912-08		70339729	84930831	54	45640											
GDI1	2664	broad.mit.edu	37	chrX	153667402	153667402	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtgactcgctacctggacTtcaaggtggtggagggcagc	8	8	16	9	1	1	1	1	1	0	0	2	3	1	3	1	6	2	2	1	6	2	2			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chrX:153667402T>G	ENST00000447750.2	+	4	639	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	102					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTACCTGGACTTCAAGGTGGT	0.577													24	31					0	0	0	0	G	153667402	T	G	153667402	3	3	254	1	0	0	0	0	1	0	0	0	6371	1609	56	5	318	5	GDI1	23	153667402	Missense_Mutation	SNP	T	TCGA-CV-6939-01A-11D-1912-08	83327673	153667402	1603158	55	45641											
DNAJC11	55735	broad.mit.edu	37	chr1	6697514	6697514	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatgttctcacccattctGgactcttctgcctcaattat	8	15	4	14	0	5	0	2	0	4	0	6	1	5	1	2	1	1	1	2	1	2	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:6697514G>A	ENST00000377577.5	-	13	1497	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	DNAJC11_ENST00000294401.7_Silent_p.S406S|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Silent_p.S420S|DNAJC11_ENST00000377573.5_Silent_p.S368S|DNAJC11_ENST00000349363.6_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	458					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCATTCTGGACTCTTCTG	0.582													96	67					0	0	0	0	A	6697514	G	A	6697514	2	1	255	1	0	0	0	0	0	0	0	1	4666	1335	47	4		4	DNAJC11	1	6697514	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08		6697514	242553107	1	45642											
ANKRD13C	81573	broad.mit.edu	37	chr1	70819809	70819809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacggggttggtgccggccaGaagggccggggactgggagt	7	5	21	8	3	0	1	0	0	0	1	0	3	0	3	3	8	2	1	3	8	2	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:70819809G>A	ENST00000370944.4	-	1	596	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	ANKRD13C_ENST00000262346.6_Silent_p.L95L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	95					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GTGCCGGCCAGAAGGGCCGGG	0.672													45	17					0	0	0	0	A	70819809	G	A	70819809	2	1	255	1	0	0	0	0	0	0	0	1	643	933	33	2		2	ANKRD13C	1	70819809	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08	64122295	70819809	178430812	2	45643											
ELTD1	64123	broad.mit.edu	37	chr1	79412073	79412073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttagtgcaattagcattttCgccacaggactgagttaaat	12	13	9	7	1	0	1	0	1	0	0	1	2	0	2	1	1	2	4	1	1	5	5			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:79412073C>T	ENST00000370742.3	-	3	274	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	71	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTAGCATTTTCGCCACAGGAC	0.323													18	11					0	0	0	0	T	79412073	C	T	79412073	3	4	255	1	0	0	0	0	1	0	0	0	5122	893	31	1	1913	1	ELTD1	1	79412073	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	8592264	79412073	169838548	3	45644											
ODF2L	57489	broad.mit.edu	37	chr1	86838147	86838148	+	Frame_Shift_Ins	INS	-	-	T																															aatctgtacttccaattcggINSttttttctatcacaattttc																										TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:86838147_86838148insT	ENST00000359242.3	-	9	1167_1168	c.886_887insA	c.(886-888)cgafs	p.R296fs	ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.R296fs|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.R296fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.R296fs|ODF2L_ENST00000370566.3_Frame_Shift_Ins_p.R296fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.R165fs|ODF2L_ENST00000524695.1_5'UTR	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	296						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTCCAATTCGGTTTTTTCTATC	0.257													2	4	---	---	---	---					T	86838148	-	T	86838147	7	5	255	1	0	1	1	0	0	0	0	0	10899	1261	44	0	1239	0	ODF2L	1	86838147	Frame_Shift_Ins	INS	-	TCGA-CV-6940-01A-11D-1912-08	7426074	86838147	162412474	4	45645											
GBP7	388646	broad.mit.edu	37	chr1	89613381	89613381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaagagctctgaaagccGcttaagctcagcctgacaat	12	9	9	11	1	3	3	2	2	1	1	3	3	3	3	2	0	4	3	2	0	4	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:89613381G>A	ENST00000294671.2	-	8	1372	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	412						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TCTGAAAGCCGCTTAAGCTCA	0.438													137	58					0	0	0	0	A	89613381	G	A	89613381	3	1	255	1	0	0	0	0	1	0	0	0	6328	1086	38	1	698	1	GBP7	1	89613381	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	2775234	89613381	159637240	5	45646											
OLFM3	118427	broad.mit.edu	37	chr1	102312416	102312416	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactaaggtatccggagtCgacagcctcgtggtgttcag	8	11	12	10	3	1	0	1	0	0	0	4	2	2	1	2	3	2	2	2	3	3	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:102312416C>A	ENST00000338858.5	-	1	113	c.114G>T	c.(112-114)tcG>tcT	p.S38S	OLFM3_ENST00000359814.3_Silent_p.S38S|OLFM3_ENST00000370103.4_Intron|OLFM3_ENST00000462354.1_Intron			Q96PB7	NOE3_HUMAN	olfactomedin 3	38						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TATCCGGAGTCGACAGCCTCG	0.473													10	54					9.70103e-10	1.34151e-09	1	0	A	102312416	C	A	102312416	2	1	255	1	0	0	0	0	0	0	0	1	10925	899	31	3		3	OLFM3	1	102312416	Silent	SNP	C	TCGA-CV-6940-01A-11D-1912-08	12699035	102312416	146938205	6	45647											
KCNA2	3737	broad.mit.edu	37	chr1	111146468	111146468	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctagaatctggagacCtttggagtgtctggacaact	10	11	11	9	0	2	3	0	1	2	2	2	6	2	5	2	3	1	0	2	3	3	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:111146468C>A	ENST00000485317.1	-	3	1610	c.937G>T	c.(937-939)Ggt>Tgt	p.G313C	KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.G313C|KCNA2_ENST00000316361.4_Missense_Mutation_p.G313C			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	313						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		ATCTGGAGACCTTTGGAGTGT	0.502													21	71					7.41877e-09	1.02008e-08	1	0	A	111146468	C	A	111146468	3	1	255	1	0	0	0	0	1	0	0	0	8056	681	24	4	566	4	KCNA2	1	111146468	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	8834052	111146468	138104153	7	45648											
CRNN	49860	broad.mit.edu	37	chr1	152383333	152383333	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactttaaacactaagacCaggaattccttgaattccac	15	10	5	11	0	0	2	0	1	0	1	2	3	2	3	3	1	2	1	3	1	6	6			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:152383333C>T	ENST00000271835.3	-	3	287	c.225G>A	c.(223-225)ctG>ctA	p.L75L	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	75	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACACTAAGACCAGGAATTCCT	0.542													30	53					0	0	0	0	T	152383333	C	T	152383333	2	4	255	1	0	0	0	0	0	0	0	1	3922	581	21	4		4	CRNN	1	152383333	Silent	SNP	C	TCGA-CV-6940-01A-11D-1912-08	41236865	152383333	96867288	8	45649											
LAMC1	3915	broad.mit.edu	37	chr1	183086740	183086740	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttcgagtggacaggcgaGatactcgcctctctgcagaa	9	9	11	12	3	1	2	0	0	1	2	4	5	1	3	2	2	2	1	2	2	2	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:183086740G>C	ENST00000258341.4	+	10	2016	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	587	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACAGGCGAGATACTCGCCT	0.507													67	43					0	0	0	0	C	183086740	G	C	183086740	3	2	255	1	0	0	0	0	1	0	0	0	8667	942	33	2	1797	2	LAMC1	1	183086740	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	30703407	183086740	66163881	9	45650											
ITPKB	3707	broad.mit.edu	37	chr1	226923395	226923395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggggcaggttgccccgagGgcttccctgcgtctcctcca	4	8	13	16	2	1	0	0	0	1	0	4	1	3	0	5	4	2	3	5	4	0	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:226923395G>A	ENST00000429204.1	-	2	2092	c.1765C>T	c.(1765-1767)Cct>Tct	p.P589S	ITPKB_ENST00000366784.1_Missense_Mutation_p.P589S|ITPKB_ENST00000272117.3_Missense_Mutation_p.P589S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	589							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TTGCCCCGAGGGCTTCCCTGC	0.597													11	35					0	0	0	0	A	226923395	G	A	226923395	3	1	255	1	0	0	0	0	1	0	0	0	7971	1232	43	4	1103	4	ITPKB	1	226923395	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	43836655	226923395	22327226	10	45651											
KCNS3	3790	broad.mit.edu	37	chr2	18112572	18112572	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctgtgcgtattctcattCtgccaggagatcgagtactg	8	12	12	9	2	2	1	1	0	2	1	4	4	2	1	1	1	4	3	1	1	2	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:18112572C>T	ENST00000403915.1	+	3	748	c.297C>T	c.(295-297)ttC>ttT	p.F99F	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Silent_p.F99F			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	99					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TATTCTCATTCTGCCAGGAGA	0.468													37	77					0	0	0	0	T	18112572	C	T	18112572	2	4	255	1	0	0	0	0	0	0	0	1	8143	912	32	2		2	KCNS3	2	18112572	Silent	SNP	C	TCGA-CV-6940-01A-11D-1912-08		18112572	225086801	11	45652											
KCNS3	3790	broad.mit.edu	37	chr2	18113212	18113212	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcggtaggacttcggtctCtaggtgccacactgagacac	9	9	11	12	2	1	1	0	1	1	1	4	3	1	2	1	4	1	1	1	4	2	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:18113212C>T	ENST00000403915.1	+	3	1388	c.937C>T	c.(937-939)Cta>Tta	p.L313L	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Silent_p.L313L			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	313					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACTTCGGTCTCTAGGTGCCAC	0.498													44	103					0	0	0	0	T	18113212	C	T	18113212	2	4	255	1	0	0	0	0	0	0	0	1	8143	912	32	2		2	KCNS3	2	18113212	Silent	SNP	C	TCGA-CV-6940-01A-11D-1912-08	640	18113212	225086161	12	45653											
ZFP36L2	678	broad.mit.edu	37	chr2	43452849	43452849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtccccaccgccttcttgtCcagcatgttgttcaggttga	5	13	9	14	2	2	1	1	1	1	0	4	1	4	1	5	1	1	4	5	1	0	5			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:43452849C>T	ENST00000282388.3	-	2	387	c.94G>A	c.(94-96)Gac>Aac	p.D32N	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	32					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GCCTTCTTGTCCAGCATGTTG	0.642													7	18					0	0	0	0	T	43452849	C	T	43452849	3	4	255	1	0	0	0	0	1	0	0	0	17742	855	30	2	1394	2	ZFP36L2	2	43452849	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	25339637	43452849	199746524	13	45654											
TIA1	7072	broad.mit.edu	37	chr2	70444000	70444000	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaattccacatttccttttCttctccaatacacctacact	12	15	0	14	0	2	0	0	0	2	0	5	0	4	0	4	0	2	0	4	0	5	7			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:70444000C>G	ENST00000416149.2	-	8	624	c.601G>C	c.(601-603)Gaa>Caa	p.E201Q	TIA1_ENST00000282574.4_Intron|TIA1_ENST00000433529.2_Intron|TIA1_ENST00000482876.1_Intron|TIA1_ENST00000445587.1_Intron|TIA1_ENST00000415783.2_Intron|C2orf42_ENST00000470096.1_Intron			P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	303					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						ATTTCCTTTTCTTCTCCAATA	0.428													62	306					0	0	0	0	G	70444000	C	G	70444000	3	3	255	1	0	0	0	0	1	0	0	0	15981	928	32	2		2	TIA1	2	70444000	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	26991151	70444000	172755373	14	45655											
TACR1	6869	broad.mit.edu	37	chr2	75347732	75347732	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcttgttcggatgctctggCcattcgatcatgcacacgac	8	12	9	12	3	3	0	1	0	2	0	5	3	3	1	1	2	2	3	1	2	0	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:75347732C>T	ENST00000305249.4	-	2	1317	c.552G>A	c.(550-552)tgG>tgA	p.W184*	TACR1_ENST00000409848.3_Nonsense_Mutation_p.W184*|TACR1_ENST00000497764.1_5'UTR	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	184					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GATGCTCTGGCCATTCGATCA	0.547													16	104					0	0	0	0	T	75347732	C	T	75347732	4	4	255	1	0	0	0	0	0	1	0	0	15596	740	26	4	691	4	TACR1	2	75347732	Nonsense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	4903732	75347732	167851641	15	45656											
TTC21B	79809	broad.mit.edu	37	chr2	166764213	166764213	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaatgcagtgatcgcatcaCcaagtttttccattttacta	11	15	6	9	1	1	1	1	1	0	0	3	1	2	1	2	0	2	4	2	0	4	6			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:166764213C>A	ENST00000243344.7	-	19	2680	c.2543G>T	c.(2542-2544)gGt>gTt	p.G848V		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	848						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GATCGCATCACCAAGTTTTTC	0.393													17	36					2.37509e-13	3.3417e-13	1	0	A	166764213	C	A	166764213	3	1	255	1	0	0	0	0	1	0	0	0	16784	507	18	4	1451	4	TTC21B	2	166764213	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	91416481	166764213	76435160	16	45657											
NFE2L2	4780	broad.mit.edu	37	chr2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggagaaattcacctgtctCttcatctagttgtaactgag	10	14	9	8	0	4	2	2	1	2	1	5	3	4	2	1	1	1	2	1	1	3	5			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			39	75					0	0	0	0	G	178098810	C	G	178098810	3	3	255	1	0	0	0	0	1	0	0	0	10438	922	32	2	1598	2	NFE2L2	2	178098810	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	11334597	178098810	65100563	17	45658											
TTN	7273	broad.mit.edu	37	chr2	179606289	179606289	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcattactggccatacatgTatactctccctcatcctcca	9	13	4	15	0	3	0	2	0	1	0	6	0	5	0	4	1	3	1	4	1	4	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:179606289T>G	ENST00000589042.1	-	48	11895	c.11671A>C	c.(11671-11673)Aca>Cca	p.T3891P	TTN_ENST00000591111.1_Missense_Mutation_p.T3574P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T3528P|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.T3720P|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T3653P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3574							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)			GCCATACATGTATACTCTCCC	0.393													18	126					0	0	0	0	G	179606289	T	G	179606289	3	3	255	1	0	0	0	0	1	0	0	0	16831	1638	57	5	93118	5	TTN	2	179606289	Missense_Mutation	SNP	T	TCGA-CV-6940-01A-11D-1912-08	1507479	179606289	63593084	18	45659											
ABCB6	10058	broad.mit.edu	37	chr2	220078866	220078866	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatttgatgatggcctctcGatagcgttccacttcgtaac	9	14	8	10	3	1	2	0	2	1	0	4	3	2	2	2	1	2	2	2	1	3	6			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:220078866G>A	ENST00000265316.3	-	8	1745	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*	ABCB6_ENST00000439002.2_Nonsense_Mutation_p.R431*	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	477	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGGCCTCTCGATAGCGTTCC	0.478													34	103					0	0	0	0	A	220078866	G	A	220078866	4	1	255	1	0	0	0	0	0	1	0	0	45	1066	37	1	1147	1	ABCB6	2	220078866	Nonsense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	40472577	220078866	23120507	19	45660											
SETD5	55209	broad.mit.edu	37	chr3	9488977	9488977	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgtgaatacccggaggTcttcccaagcaggggtaaga	10	9	14	8	1	1	2	0	1	1	1	2	3	2	3	2	5	2	2	2	5	4	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:9488977T>C	ENST00000402466.1	+	15	2242	c.1474T>C	c.(1474-1476)Tct>Cct	p.S492P	SETD5_ENST00000402198.1_Missense_Mutation_p.S590P|SETD5_ENST00000406341.1_Missense_Mutation_p.S590P|SETD5_ENST00000407969.1_Missense_Mutation_p.S609P|SETD5_ENST00000302463.6_Missense_Mutation_p.S492P			Q9C0A6	SETD5_HUMAN	SET domain containing 5	590										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TACCCGGAGGTCTTCCCAAGC	0.423													48	106					0	0	0	0	C	9488977	T	C	9488977	3	2	255	1	0	0	0	0	1	0	0	0	14221	1667	58	5	1814	5	SETD5	3	9488977	Missense_Mutation	SNP	T	TCGA-CV-6940-01A-11D-1912-08		9488977	188533453	20	45661											
HACL1	26061	broad.mit.edu	37	chr3	15642612	15642612	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaccgcttgctcattcctCatcccgatgtacttgatgcc	6	13	6	16	2	3	1	3	1	0	0	5	2	5	1	4	0	3	3	4	0	1	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:15642612C>G	ENST00000321169.5	-	2	538	c.171G>C	c.(169-171)atG>atC	p.M57I	HACL1_ENST00000457447.2_Missense_Mutation_p.M57I|HACL1_ENST00000451445.2_Missense_Mutation_p.M57I|HACL1_ENST00000435217.2_Missense_Mutation_p.M57I|HACL1_ENST00000456194.2_Missense_Mutation_p.M57I	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	57					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						GCTCATTCCTCATCCCGATGT	0.507													8	24					0	0	0	0	G	15642612	C	G	15642612	3	3	255	1	0	0	0	0	1	0	0	0	6991	826	29	2	1629	2	HACL1	3	15642612	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	6153635	15642612	182379818	21	45662											
DAG1	1605	broad.mit.edu	37	chr3	49570156	49570156	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccgcccacagaagtgcctGacagggaccctgagaagagc	11	3	13	14	2	0	4	0	2	0	3	0	6	0	5	4	1	2	0	4	1	2	0			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:49570156G>C	ENST00000545947.1	+	6	2934	c.2212G>C	c.(2212-2214)Gac>Cac	p.D738H	DAG1_ENST00000541308.1_Missense_Mutation_p.D738H|DAG1_ENST00000539901.1_Missense_Mutation_p.D738H|DAG1_ENST00000538711.1_Missense_Mutation_p.D738H|DAG1_ENST00000515359.2_Missense_Mutation_p.D738H|DAG1_ENST00000308775.2_Missense_Mutation_p.D738H	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	738					cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGAAGTGCCTGACAGGGACCC	0.592													6	18					0	0	0	0	C	49570156	G	C	49570156	3	2	255	1	0	0	0	0	1	0	0	0	4258	1290	45	2	2218	2	DAG1	3	49570156	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	33927544	49570156	148452274	22	45663											
ATP6V1A	523	broad.mit.edu	37	chr3	113497631	113497631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagctacccaaaatactcGatgaagataaagaaagcaca	20	5	6	10	1	0	3	0	1	0	2	1	4	0	3	2	0	4	2	2	0	9	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:113497631G>A	ENST00000273398.3	+	2	139	c.31G>A	c.(31-33)Gat>Aat	p.D11N	ATP6V1A_ENST00000538620.1_De_novo_Start_InFrame	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	11					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAAAATACTCGATGAAGATAA	0.299													5	34					0	0	0	0	A	113497631	G	A	113497631	3	1	255	1	0	0	0	0	1	0	0	0	1181	1058	37	1	33	1	ATP6V1A	3	113497631	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	63927475	113497631	84524799	23	45664											
FBXO40	51725	broad.mit.edu	37	chr3	121340738	121340738	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaactagagaggctacTgaggaggaaccaactatgaa	17	5	11	8	0	0	4	0	2	0	2	0	7	0	6	2	3	4	1	2	3	7	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:121340738T>C	ENST00000338040.4	+	3	876	c.462T>C	c.(460-462)acT>acC	p.T154T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	154					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAGAGGCTACTGAGGAGGAAC	0.507													24	23					0	0	0	0	C	121340738	T	C	121340738	2	2	255	1	0	0	0	0	0	0	0	1	5794	1567	55	5		5	FBXO40	3	121340738	Silent	SNP	T	TCGA-CV-6940-01A-11D-1912-08	7843107	121340738	76681692	24	45665											
HPS3	84343	broad.mit.edu	37	chr3	148880010	148880010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggacagattgttccaaccGagcttgcacttcacttgaag	11	10	10	10	1	1	2	1	1	0	1	2	4	2	3	2	1	3	3	2	1	2	5			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:148880010G>A	ENST00000296051.2	+	12	2322	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	HPS3_ENST00000460120.1_Missense_Mutation_p.E563K	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	728						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)			TGTTCCAACCGAGCTTGCACT	0.428									Hermansky-Pudlak syndrome				15	88					0	0	0	0	A	148880010	G	A	148880010	3	1	255	1	0	0	0	0	1	0	0	0	7390	1059	37	1	2228	1	HPS3	3	148880010	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	27539272	148880010	49142420	25	45666											
SLC7A14	57709	broad.mit.edu	37	chr3	170198315	170198315	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagatgtagtcagaacCaaagatgatgaaggagcaga	16	7	12	6	0	2	6	1	3	1	4	2	8	2	7	1	1	2	2	1	1	4	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:170198315C>A	ENST00000231706.4	-	7	2071	c.1756G>T	c.(1756-1758)Ggt>Tgt	p.G586C	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	586						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TAGTCAGAACCAAAGATGATG	0.552													12	56					0.00010058	0.000130862	1	0	A	170198315	C	A	170198315	3	1	255	1	0	0	0	0	1	0	0	0	14784	594	21	4	567	4	SLC7A14	3	170198315	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	21318305	170198315	27824115	26	45667											
CCDC39	339829	broad.mit.edu	37	chr3	180359892	180359892	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtataattgctgttttCttttttctagggaaagaact	9	19	8	5	0	2	1	0	0	2	1	2	2	2	2	0	1	2	3	0	1	5	9			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:180359892C>A	ENST00000273654.4	-	19	2634	c.2015G>T	c.(2014-2016)aGa>aTa	p.R672I	CCDC39_ENST00000442201.2_Missense_Mutation_p.R588I			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	588					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTGCTGTTTTCTTTTTTCTAG	0.358													30	87					9.80776e-20	1.42124e-19	1	0	A	180359892	C	A	180359892	3	1	255	1	0	0	0	0	1	0	0	0	2837	913	32	2	1094	2	CCDC39	3	180359892	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	10161577	180359892	17662538	27	45668											
ABCC5	10057	broad.mit.edu	37	chr3	183707056	183707056	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagcactcaagccatgaTggtactttcccttgggatgc	9	11	10	11	0	2	2	2	1	0	1	3	3	3	3	2	2	4	2	2	2	2	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:183707056T>C	ENST00000334444.6	-	3	485	c.245A>G	c.(244-246)cAt>cGt	p.H82R	ABCC5_ENST00000392579.2_Missense_Mutation_p.H82R|ABCC5_ENST00000382494.2_Missense_Mutation_p.H82R|ABCC5_ENST00000427120.2_Missense_Mutation_p.H82R|ABCC5_ENST00000265586.6_Missense_Mutation_p.H82R	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	82						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAAGCCATGATGGTACTTTCC	0.502													23	54					0	0	0	0	C	183707056	T	C	183707056	3	2	255	1	0	0	0	0	1	0	0	0	56	1464	51	5	4220	5	ABCC5	3	183707056	Missense_Mutation	SNP	T	TCGA-CV-6940-01A-11D-1912-08	3347164	183707056	14315374	28	45669											
ATP13A3	79572	broad.mit.edu	37	chr3	194167697	194167697	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagctgtccacaaatatttaTtctttgaggactgatacaga	13	13	8	7	0	1	3	0	2	1	1	2	5	2	4	1	1	2	1	1	1	4	6			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:194167697T>C	ENST00000439040.1	-	14	2247	c.1456A>G	c.(1456-1458)Ata>Gta	p.I486V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.I486V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	486					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CAAATATTTATTCTTTGAGGA	0.383													51	106					0	0	0	0	C	194167697	T	C	194167697	3	2	255	1	0	0	0	0	1	0	0	0	1129	1493	52	5	2304	5	ATP13A3	3	194167697	Missense_Mutation	SNP	T	TCGA-CV-6940-01A-11D-1912-08	10460641	194167697	3854733	29	45670											
PHOX2B	8929	broad.mit.edu	37	chr4	41747993	41748013	+	In_Frame_Del	DEL	GCCGCCGCTGCCGCTGCCGCC	GCCGCCGCTGCCGCTGCCGCC	-																															ccgcagccaggcctccagctGccgccgctgccgctgccgcc																								rs17884724		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:41747993_41748013delGCCGCCGCTGCCGCTGCCGCC	ENST00000226382.2	-	3	1115_1135	c.756_776delGGCGGCAGCGGCAGCGGCGGC	c.(754-777)gca>gc	p.AAAAAAAA252del		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	252	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GCCTCCAgctgccgccgctgccgctgccgccgccgccgctg	0.819			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	5	---	---	---	---					-	41748013	GCCGCCGCTGCCGCTGCCGCC	-	41747993	7	5	255	1	0	1	0	1	0	0	0	0	11931	1319	46	0	172	0	PHOX2B	4	41747993	In_Frame_Del	DEL	GCCGCCGCTGCCGCTGCCGCC	TCGA-CV-6940-01A-11D-1912-08		41747993	149406283	30	45671											
NIPAL1	152519	broad.mit.edu	37	chr4	48036925	48036925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatcttcctactttttaaaCgagcacttgaacattcatgg	11	16	5	9	1	2	1	1	1	1	0	3	2	3	1	1	1	4	1	1	1	5	8	rs138156539	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:48036925C>T	ENST00000295461.5	+	5	555	c.489C>T	c.(487-489)aaC>aaT	p.N163N	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	163						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACTTTTTAAACGAGCACTTGA	0.383													23	26					0	0	0	0	T	48036925	C	T	48036925	2	4	255	1	0	0	0	0	0	0	0	1	10494	535	19	1		1	NIPAL1	4	48036925	Silent	SNP	C	TCGA-CV-6940-01A-11D-1912-08	6288932	48036925	143117351	31	45672											
TEC	7006	broad.mit.edu	37	chr4	48172263	48172263	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggaataaaatgaatacttActgctctcaaaaagattgta	18	12	6	5	0	1	2	1	1	1	1	2	3	1	3	0	1	3	2	0	1	9	5			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:48172263A>C	ENST00000381501.3	-	5	612		c.e5+1			NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase						intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATGAATACTTACTGCTCTCAA	0.318													16	50					0	0	0	0	C	48172263	A	C	48172263	5	2	255	1	0	0	0	0	0	0	1	0	15836	405	14	5	1495	5	TEC	4	48172263	Splice_Site	SNP	A	TCGA-CV-6940-01A-11D-1912-08	135338	48172263	142982013	32	45673											
PPEF2	5470	broad.mit.edu	37	chr4	76794404	76794404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaataacagcctcctcctCgaatagtgttggccttgcag	11	10	8	12	1	0	0	0	0	0	0	3	1	2	0	4	1	3	2	4	1	5	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:76794404C>T	ENST00000286719.7	-	12	1738	c.1382G>A	c.(1381-1383)cGa>cAa	p.R461Q		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	461	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCCTCCTCCTCGAATAGTGTT	0.458													41	32					0	0	0	0	T	76794404	C	T	76794404	3	4	255	1	0	0	0	0	1	0	0	0	12379	884	31	1	903	1	PPEF2	4	76794404	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	28622141	76794404	114359872	33	45674											
DMP1	1758	broad.mit.edu	37	chr4	88583266	88583266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgacagtggagatgaCacctttggtgacgatgacag	13	8	14	6	1	0	6	0	4	0	2	0	9	0	6	1	2	0	0	1	2	1	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:88583266C>A	ENST00000339673.6	+	6	435	c.336C>A	c.(334-336)gaC>gaA	p.D112E	RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D96E	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	112					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.D112D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GTGGAGATGACACCTTTGGTG	0.478													25	20					2.39556e-15	3.43034e-15	1	0	A	88583266	C	A	88583266	3	1	255	1	0	0	0	0	1	0	0	0	4620	477	17	4	354	4	DMP1	4	88583266	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	11788862	88583266	102571010	34	45675											
MTTP	4547	broad.mit.edu	37	chr4	100534246	100534246	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgctgtcagcatctggCgaccctatcagtgtggtgaa	11	10	11	9	1	3	1	2	1	1	0	3	2	3	1	1	2	2	2	1	2	4	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:100534246C>T	ENST00000457717.1	+	16	2422	c.2166C>T	c.(2164-2166)ggC>ggT	p.G722G	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.G722G|MTTP_ENST00000511045.1_Silent_p.G749G	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	722					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CAGCATCTGGCGACCCTATCA	0.423													11	60					0	0	0	0	T	100534246	C	T	100534246	2	4	255	1	0	0	0	0	0	0	0	1	10034	755	27	1		1	MTTP	4	100534246	Silent	SNP	C	TCGA-CV-6940-01A-11D-1912-08	11950980	100534246	90620030	35	45676											
KLHL2	11275	broad.mit.edu	37	chr4	166231784	166231784	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcgcactgtagattcctaCgaccctgtgaaggaccagtg	9	10	11	11	2	0	2	0	1	0	1	2	4	1	3	3	1	1	3	3	1	3	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:166231784C>T	ENST00000226725.6	+	10	1378	c.1119C>T	c.(1117-1119)taC>taT	p.Y373Y	KLHL2_ENST00000538127.1_Silent_p.Y285Y|KLHL2_ENST00000514860.1_Silent_p.Y377Y|KLHL2_ENST00000506761.1_Silent_p.Y207Y|KLHL2_ENST00000421009.2_Silent_p.Y276Y|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	373					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TAGATTCCTACGACCCTGTGA	0.478													94	394					0	0	0	0	T	166231784	C	T	166231784	2	4	255	1	0	0	0	0	0	0	0	1	8426	547	19	1		1	KLHL2	4	166231784	Silent	SNP	C	TCGA-CV-6940-01A-11D-1912-08	65697538	166231784	24922492	36	45677											
SPOCK3	50859	broad.mit.edu	37	chr4	167675844	167675844	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttaaacatccagccaagtGagtccttgcaaattggcaag	13	10	9	9	0	0	1	0	1	0	0	2	1	2	1	3	1	3	3	3	1	5	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:167675844G>C	ENST00000357154.3	-	9	892	c.755C>G	c.(754-756)tCa>tGa	p.S252*	SPOCK3_ENST00000502330.1_Nonsense_Mutation_p.S252*|SPOCK3_ENST00000534949.1_Nonsense_Mutation_p.S156*|SPOCK3_ENST00000510741.1_Nonsense_Mutation_p.S209*|SPOCK3_ENST00000357545.4_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000511269.1_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000421836.2_Nonsense_Mutation_p.S201*|SPOCK3_ENST00000512681.1_Nonsense_Mutation_p.S154*|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512648.1_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000506886.1_Nonsense_Mutation_p.S252*|SPOCK3_ENST00000504953.1_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000511531.1_Nonsense_Mutation_p.S252*|SPOCK3_ENST00000541637.1_Nonsense_Mutation_p.S154*|SPOCK3_ENST00000541354.1_Nonsense_Mutation_p.S132*|SPOCK3_ENST00000535728.1_Nonsense_Mutation_p.S120*	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	252					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CCAGCCAAGTGAGTCCTTGCA	0.373													16	65					0	0	0	0	C	167675844	G	C	167675844	4	2	255	1	0	0	0	0	0	1	0	0	15171	1294	45	2	571	2	SPOCK3	4	167675844	Nonsense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	1444060	167675844	23478432	37	45678											
HK3	3101	broad.mit.edu	37	chr5	176308438	176308438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagccctctgggacacaGcctggcacacctctagcacc	8	5	11	17	0	2	0	0	0	2	0	2	1	2	1	4	3	3	3	4	3	1	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr5:176308438G>T	ENST00000292432.5	-	18	2583	c.2492C>A	c.(2491-2493)gCt>gAt	p.A831D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	831	Catalytic.			A -> V (in Ref. 4; AAC50422).	glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGACACAGCCTGGCACAC	0.652													3	21					6.4e-05	8.41739e-05	1	0	T	176308438	G	T	176308438	3	4	255	1	0	0	0	0	1	0	0	0	7242	971	34	4	287	4	HK3	5	176308438	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08		176308438	4606822	38	45679											
ZNF346	23567	broad.mit.edu	37	chr5	176477792	176477792	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatagacccagacaagttCtgcagcctctgccatgcaac	12	8	8	13	0	2	3	0	1	2	2	2	3	2	3	3	0	5	3	3	0	3	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr5:176477792C>A	ENST00000503039.1	+	6	637	c.633C>A	c.(631-633)ttC>ttA	p.F211L	ZNF346_ENST00000261948.4_Missense_Mutation_p.F211L|ZNF346_ENST00000358149.3_Missense_Mutation_p.F186L|ZNF346_ENST00000506693.1_Missense_Mutation_p.F88L|ZNF346_ENST00000503425.1_Missense_Mutation_p.F154L|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000511834.1_Missense_Mutation_p.F202L			Q9UL40	ZN346_HUMAN	zinc finger protein 346	186						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	p.F186L(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGACAAGTTCTGCAGCCTCT	0.478													13	44					1.49906e-05	1.99325e-05	1	0	A	176477792	C	A	176477792	3	1	255	1	0	0	0	0	1	0	0	0	17955	912	32	2	576	2	ZNF346	5	176477792	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	169354	176477792	4437468	39	45680											
TBC1D9B	23061	broad.mit.edu	37	chr5	179294796	179294796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttctgaggagctgtcctCtgtgaaataatgggccgcct	8	11	11	11	1	2	2	0	2	2	0	3	3	3	3	4	2	1	1	4	2	2	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr5:179294796C>T	ENST00000356834.3	-	18	2882	c.2845G>A	c.(2845-2847)Gag>Aag	p.E949K	TBC1D9B_ENST00000519746.1_Missense_Mutation_p.E125K|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E949K|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.E107K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	949						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCTGTCCTCTGTGAAATAA	0.632													8	15					0	0	0	0	T	179294796	C	T	179294796	3	4	255	1	0	0	0	0	1	0	0	0	15722	922	32	2	927	2	TBC1D9B	5	179294796	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	2817004	179294796	1620464	40	45681											
MEP1A	4224	broad.mit.edu	37	chr6	46801214	46801214	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttgaccaggagcctgaTgtccggaacaggatgtcctc	9	9	11	12	1	0	2	0	2	0	0	4	5	3	5	5	3	2	0	5	3	1	1	rs142787710	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:46801214T>A	ENST00000230588.4	+	11	1557	c.1548T>A	c.(1546-1548)gaT>gaA	p.D516E		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	516	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGGAGCCTGATGTCCGGAACA	0.517													15	141					0	0	0	0	A	46801214	T	A	46801214	3	1	255	1	0	0	0	0	1	0	0	0	9544	1461	51	5	1590	5	MEP1A	6	46801214	Missense_Mutation	SNP	T	TCGA-CV-6940-01A-11D-1912-08		46801214	124313853	41	45682											
FAM135A	57579	broad.mit.edu	37	chr6	71232223	71232223	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaattttttaggtacgcaGattttctgaggcattctttt	8	19	9	5	1	2	2	0	1	2	1	2	3	2	3	0	3	1	3	0	3	3	9			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:71232223G>C	ENST00000418814.2	+	13	1651	c.1037G>C	c.(1036-1038)aGa>aCa	p.R346T	FAM135A_ENST00000457062.2_Missense_Mutation_p.R329T|FAM135A_ENST00000361499.3_Missense_Mutation_p.R346T|FAM135A_ENST00000505868.1_Missense_Mutation_p.R346T|FAM135A_ENST00000370479.3_Missense_Mutation_p.R329T|FAM135A_ENST00000505769.1_Missense_Mutation_p.R346T	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	346										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAGGTACGCAGATTTTCTGAG	0.353													24	139					0	0	0	0	C	71232223	G	C	71232223	3	2	255	1	0	0	0	0	1	0	0	0	5489	942	33	2	1157	2	FAM135A	6	71232223	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	24431009	71232223	99882844	42	45683											
MDN1	23195	broad.mit.edu	37	chr6	90434920	90434920	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaacagcaaatcttacctGagtgaatctgttaaggaaag	15	9	10	7	0	2	2	0	2	2	0	2	3	2	3	1	2	3	3	1	2	6	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:90434920G>A	ENST00000369393.3	-	38	5783	c.5668C>T	c.(5668-5670)Cag>Tag	p.Q1890*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q1890*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1890					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AATCTTACCTGAGTGAATCTG	0.423													18	68					0	0	0	0	A	90434920	G	A	90434920	4	1	255	1	0	0	0	0	0	1	0	0	9484	1299	45	2	11382	2	MDN1	6	90434920	Nonsense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	19202697	90434920	80680147	43	45684											
SIM1	6492	broad.mit.edu	37	chr6	100911241	100911241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggatgctttgtccagctgcGaggtgatagccgagggcaaa	9	9	15	8	2	0	1	0	1	0	0	1	4	1	2	2	3	4	3	2	3	2	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:100911241G>A	ENST00000369208.3	-	2	886	c.104C>T	c.(103-105)tCg>tTg	p.S35L	SIM1_ENST00000262901.4_Missense_Mutation_p.S35L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	35	Helix-loop-helix motif.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCCAGCTGCGAGGTGATAGC	0.453													15	58					0	0	0	0	A	100911241	G	A	100911241	3	1	255	1	0	0	0	0	1	0	0	0	14411	1059	37	1	2240	1	SIM1	6	100911241	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	10476321	100911241	70203826	44	45685											
CDK19	23097	broad.mit.edu	37	chr6	111067348	111067348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaatctctctacaagccGacatggatattcctgtgcct	9	12	7	13	1	2	0	0	0	2	0	4	2	3	1	3	1	4	1	3	1	4	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:111067348G>A	ENST00000368911.3	-	2	364	c.185C>T	c.(184-186)tCg>tTg	p.S62L	CDK19_ENST00000323817.3_Missense_Mutation_p.S2L	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	62	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TCTACAAGCCGACATGGATAT	0.279													9	109					0	0	0	0	A	111067348	G	A	111067348	3	1	255	1	0	0	0	0	1	0	0	0	3164	1059	37	1	1371	1	CDK19	6	111067348	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	10156107	111067348	60047719	45	45686											
RNF146	81847	broad.mit.edu	37	chr6	127607982	127607982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagcggtgtgctctttgtcGacaagaaattcccgaggatt	11	11	11	8	3	1	1	0	0	1	1	3	4	2	2	1	2	2	1	1	2	3	3	rs146049752		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:127607982G>A	ENST00000368314.1	+	3	648	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	RNF146_ENST00000309649.3_Missense_Mutation_p.R74Q|RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000356799.2_Missense_Mutation_p.R74Q	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	75					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GCTCTTTGTCGACAAGAAATT	0.443													13	60					0	0	0	0	A	127607982	G	A	127607982	3	1	255	1	0	0	0	0	1	0	0	0	13533	1058	37	1	223	1	RNF146	6	127607982	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	16540634	127607982	43507085	46	45687											
AKAP12	9590	broad.mit.edu	37	chr6	151671694	151671694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggaaaagacaaagagaCggggacagacgggatccttg	14	3	16	8	3	0	3	0	0	0	3	1	7	1	6	2	5	0	0	2	5	3	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:151671694C>T	ENST00000402676.2	+	4	2408	c.2168C>T	c.(2167-2169)aCg>aTg	p.T723M	AKAP12_ENST00000359755.5_Missense_Mutation_p.T618M|AKAP12_ENST00000354675.6_Missense_Mutation_p.T625M|AKAP12_ENST00000253332.1_Missense_Mutation_p.T723M	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	723					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GACAAAGAGACGGGGACAGAC	0.567													12	133					0	0	0	0	T	151671694	C	T	151671694	3	4	255	1	0	0	0	0	1	0	0	0	448	536	19	1	2207	1	AKAP12	6	151671694	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	24063712	151671694	19443373	47	45688											
AKAP12	9590	broad.mit.edu	37	chr6	151672232	151672232	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctgacgggacgagggcAgctaccattattgaagaaag	12	7	14	8	3	0	3	0	2	0	1	1	5	0	4	1	2	2	3	1	2	4	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:151672232A>G	ENST00000402676.2	+	4	2946	c.2706A>G	c.(2704-2706)gcA>gcG	p.A902A	AKAP12_ENST00000359755.5_Silent_p.A797A|AKAP12_ENST00000354675.6_Silent_p.A804A|AKAP12_ENST00000253332.1_Silent_p.A902A	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	902					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGACGAGGGCAGCTACCATTA	0.532													19	52					0	0	0	0	G	151672232	A	G	151672232	2	3	255	1	0	0	0	0	0	0	0	1	448	175	7	5		5	AKAP12	6	151672232	Silent	SNP	A	TCGA-CV-6940-01A-11D-1912-08	538	151672232	19442835	48	45689											
STK31	56164	broad.mit.edu	37	chr7	23830531	23830531	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaacctgcttctccaggttCagacttatatgcttatggct	10	14	7	10	0	2	1	1	0	1	1	3	1	2	1	2	2	3	4	2	2	5	5			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:23830531C>G	ENST00000354639.3	+	22	3121	c.2657C>G	c.(2656-2658)tCa>tGa	p.S886*	STK31_ENST00000433467.2_Nonsense_Mutation_p.S909*|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Nonsense_Mutation_p.S886*|STK31_ENST00000355870.3_Nonsense_Mutation_p.S909*	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	909	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTCCAGGTTCAGACTTATAT	0.353													10	31					0	0	0	0	G	23830531	C	G	23830531	4	3	255	1	0	0	0	0	0	1	0	0	15386	838	29	2	2812	2	STK31	7	23830531	Nonsense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08		23830531	135308132	49	45690											
NFE2L3	9603	broad.mit.edu	37	chr7	26225363	26225363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccaaagaactggtggcctCaggccacaaaaaggaaaccc	16	3	9	13	0	1	1	1	0	0	1	1	2	1	2	4	4	2	0	4	4	5	0			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:26225363C>T	ENST00000056233.3	+	4	2304	c.2045C>T	c.(2044-2046)tCa>tTa	p.S682L		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	682					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CTGGTGGCCTCAGGCCACAAA	0.418													13	41					0	0	0	0	T	26225363	C	T	26225363	3	4	255	1	0	0	0	0	1	0	0	0	10439	838	29	2	2059	2	NFE2L3	7	26225363	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	2394832	26225363	132913300	50	45691											
HIP1	3092	broad.mit.edu	37	chr7	75172195	75172195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgatctgtgatttgccGgaaatggttgaggccacaac	9	12	11	9	2	2	2	0	2	2	0	3	4	2	3	2	3	2	1	2	3	2	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:75172195G>A	ENST00000336926.6	-	28	2891	c.2865C>T	c.(2863-2865)tcC>tcT	p.S955S	HIP1_ENST00000434438.2_Silent_p.S904S	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	955	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTGATTTGCCGGAAATGGTTG	0.562			T	PDGFRB	CMML								4	98					0	0	0	0	A	75172195	G	A	75172195	2	1	255	1	0	0	0	0	0	0	0	1	7164	1103	39	1		1	HIP1	7	75172195	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08	48946832	75172195	83966468	51	45692											
CALCR	799	broad.mit.edu	37	chr7	93055850	93055850	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgcctcccccaacgctGgttccactgaattttgaatt	7	11	10	13	2	0	2	0	2	0	0	2	2	2	2	4	3	1	2	4	3	3	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:93055850G>A	ENST00000359558.2	-	16	1644	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*	CALCR_ENST00000394441.1_Nonsense_Mutation_p.Q415*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.Q415*|CALCR_ENST00000421592.1_Nonsense_Mutation_p.Q431*|CALCR_ENST00000360249.4_Nonsense_Mutation_p.Q431*	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	431	Poly-Ala.				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CCCCAACGCTGGTTCCACTGA	0.547													45	71					0	0	0	0	A	93055850	G	A	93055850	4	1	255	1	0	0	0	0	0	1	0	0	2604	1357	47	4	185	4	CALCR	7	93055850	Nonsense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	17883655	93055850	66082813	52	45693											
GPC2	221914	broad.mit.edu	37	chr7	99773453	99773453	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggcatacaggcggccGtaggagtgggagaagagctg	9	6	19	7	2	0	2	0	0	0	2	0	4	0	3	1	5	3	4	1	5	3	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:99773453G>A	ENST00000292377.2	-	3	557	c.390C>T	c.(388-390)taC>taT	p.Y130Y		NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	130						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGGCGGCCGTAGGAGTGGG	0.567													41	50					0	0	0	0	A	99773453	G	A	99773453	2	1	255	1	0	0	0	0	0	0	0	1	6647	1140	40	1		1	GPC2	7	99773453	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08	6717603	99773453	59365210	53	45694											
DOCK4	9732	broad.mit.edu	37	chr7	111517169	111517169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatggcttgattattattcCcaaggaaaatgcccttggaa	12	13	8	8	0	1	1	1	1	0	0	2	3	2	3	2	3	1	1	2	3	6	5			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:111517169C>T	ENST00000428084.1	-	17	1933	c.1661G>A	c.(1660-1662)gGg>gAg	p.G554E	DOCK4_ENST00000437633.1_Missense_Mutation_p.G554E|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	554	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATTATTATTCCCAAGGAAAAT	0.338													13	9					0	0	0	0	T	111517169	C	T	111517169	3	4	255	1	0	0	0	0	1	0	0	0	4725	623	22	4	4383	4	DOCK4	7	111517169	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	11743716	111517169	47621494	54	45695											
OR9A4	130075	broad.mit.edu	37	chr7	141619410	141619410	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacttgtgcctcccacttCacctgtgttgtgattggcta	5	15	8	13	0	1	1	1	1	0	0	3	1	3	1	4	1	1	2	4	1	1	5			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:141619410C>T	ENST00000548136.1	+	1	794	c.735C>T	c.(733-735)ttC>ttT	p.F245F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCTCCCACTTCACCTGTGTTG	0.502													7	107					0	0	0	0	T	141619410	C	T	141619410	2	4	255	1	0	0	0	0	0	0	0	1	11320	825	29	2		2	OR9A4	7	141619410	Silent	SNP	C	TCGA-CV-6940-01A-11D-1912-08	30102241	141619410	17519253	55	45696											
ABCB8	11194	broad.mit.edu	37	chr7	150741174	150741174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaccagcgcgctggatgcaGagtccgagcgggttgtacag	8	7	15	11	4	0	1	0	0	0	1	1	3	1	2	2	2	5	4	2	2	2	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:150741174G>A	ENST00000358849.4	+	15	1975	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	ABCB8_ENST00000542328.1_Missense_Mutation_p.E540K|ABCB8_ENST00000498578.1_Missense_Mutation_p.E628K|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.E645K	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	645	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGGATGCAGAGTCCGAGCG	0.667													6	22					0	0	0	0	A	150741174	G	A	150741174	3	1	255	1	0	0	0	0	1	0	0	0	47	943	33	2	1940	2	ABCB8	7	150741174	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	9121764	150741174	8397489	56	45697											
MTUS1	57509	broad.mit.edu	37	chr8	17611659	17611659	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatctcggtgttctgctcAagactgtttgttgtcttgaa	7	16	10	8	1	4	3	1	1	3	2	5	3	4	3	0	1	1	4	0	1	2	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:17611659A>C	ENST00000381869.3	-	2	2131	c.1658T>G	c.(1657-1659)tTg>tGg	p.L553W	MTUS1_ENST00000262102.6_Missense_Mutation_p.L553W|MTUS1_ENST00000519263.1_Missense_Mutation_p.L553W|MTUS1_ENST00000381862.3_Missense_Mutation_p.L553W	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	553						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGTTCTGCTCAAGACTGTTTG	0.428													39	148					0	0	0	0	C	17611659	A	C	17611659	3	2	255	1	0	0	0	0	1	0	0	0	10035	131	5	5	2529	5	MTUS1	8	17611659	Missense_Mutation	SNP	A	TCGA-CV-6940-01A-11D-1912-08		17611659	128752363	57	45698											
CDCA2	157313	broad.mit.edu	37	chr8	25346199	25346199	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagagcacttcctaagaaGagtcaggtaagcatgtgttt	14	10	11	6	0	1	3	1	0	0	3	2	4	2	3	1	1	2	4	1	1	4	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:25346199G>A	ENST00000330560.3	+	13	2142	c.1665G>A	c.(1663-1665)aaG>aaA	p.K555K	CDCA2_ENST00000380665.3_Silent_p.K540K|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	555	Lys-rich.				cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTCCTAAGAAGAGTCAGGTAA	0.313													8	29					0	0	0	0	A	25346199	G	A	25346199	2	1	255	1	0	0	0	0	0	0	0	1	3115	933	33	2		2	CDCA2	8	25346199	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08	7734540	25346199	121017823	58	45699											
BAG4	9530	broad.mit.edu	37	chr8	38034583	38034583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaccacctggctgggagaaGgcggaggaggcgatggctac	10	4	18	9	2	0	2	0	0	0	2	0	6	0	4	2	7	1	2	2	7	2	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:38034583G>A	ENST00000287322.4	+	1	467	c.196G>A	c.(196-198)Ggc>Agc	p.G66S	BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Missense_Mutation_p.G66S	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	66					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GCTGGGAGAAGGCGGAGGAGG	0.672													8	16					0	0	0	0	A	38034583	G	A	38034583	3	1	255	1	0	0	0	0	1	0	0	0	1293	1000	35	4	198	4	BAG4	8	38034583	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	12688384	38034583	108329439	59	45700											
WWP1	11059	broad.mit.edu	37	chr8	87423945	87423945	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtattccttctaccagtgcAgaattggaatctgaagctag	11	13	9	8	0	2	2	0	1	2	1	3	3	3	3	2	1	3	3	2	1	6	6			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:87423945A>G	ENST00000517970.1	+	9	1210	c.903A>G	c.(901-903)gcA>gcG	p.A301A	WWP1_ENST00000265428.4_Silent_p.A301A|WWP1_ENST00000341922.2_Silent_p.A171A|WWP1_ENST00000349423.2_Silent_p.A83A	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	301					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CTACCAGTGCAGAATTGGAAT	0.403													22	57					0	0	0	0	G	87423945	A	G	87423945	2	3	255	1	0	0	0	0	0	0	0	1	17511	175	7	5		5	WWP1	8	87423945	Silent	SNP	A	TCGA-CV-6940-01A-11D-1912-08	49389362	87423945	58940077	60	45701											
GRHL2	79977	broad.mit.edu	37	chr8	102585906	102585906	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttcacagtggcacatttCagtacaccctggaagccacc	10	10	7	14	0	3	0	2	0	1	0	3	1	3	1	3	2	2	2	3	2	2	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:102585906C>T	ENST00000251808.3	+	6	1083	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	GRHL2_ENST00000395927.1_Nonsense_Mutation_p.Q233*	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	249						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGGCACATTTCAGTACACCCT	0.473													44	62					0	0	0	0	T	102585906	C	T	102585906	4	4	255	1	0	0	0	0	0	1	0	0	6814	827	29	2	767	2	GRHL2	8	102585906	Nonsense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	15161961	102585906	43778116	61	45702											
ABRA	137735	broad.mit.edu	37	chr8	107773700	107773700	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcccactgggctatatttCtgttgggctttgcagttgag	5	16	12	8	0	1	1	0	1	1	0	1	1	1	1	1	2	2	5	1	2	2	7			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:107773700C>T	ENST00000311955.3	-	2	765	c.711G>A	c.(709-711)caG>caA	p.Q237Q		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	237					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GGCTATATTTCTGTTGGGCTT	0.423													19	137					0	0	0	0	T	107773700	C	T	107773700	2	4	255	1	0	0	0	0	0	0	0	1	100	912	32	2		2	ABRA	8	107773700	Silent	SNP	C	TCGA-CV-6940-01A-11D-1912-08	5187794	107773700	38590322	62	45703											
FOXD4	2298	broad.mit.edu	37	chr9	117484	117484	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaggtagagggaaggggtgGggcaggtgggctcccggggt	6	5	24	6	1	0	1	0	0	0	1	1	2	1	2	1	10	0	4	1	10	2	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:117484G>T	ENST00000382500.2	-	1	933	c.636C>A	c.(634-636)ccC>ccA	p.P212P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	212	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGAAGGGGTGGGGCAGGTGGG	0.716													13	747					9.16793e-09	1.25347e-08	1	0	T	117484	G	T	117484	2	4	255	1	0	0	0	0	0	0	0	1	6044	1219	43	4		4	FOXD4	9	117484	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08		117484	141095947	63	45704											
SMARCA2	6595	broad.mit.edu	37	chr9	2182188	2182188	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctaggcgacctggagaaGgatgtcatgcttctctgtca	9	10	12	10	1	3	1	2	0	1	1	4	4	3	2	2	3	2	1	2	3	2	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:2182188G>C	ENST00000382203.1	+	31	4616	c.4407G>C	c.(4405-4407)aaG>aaC	p.K1469N	SMARCA2_ENST00000382186.1_Missense_Mutation_p.K133N|SMARCA2_ENST00000382185.1_Missense_Mutation_p.K115N|SMARCA2_ENST00000382194.1_Missense_Mutation_p.K1451N|SMARCA2_ENST00000357248.2_Missense_Mutation_p.K1451N|SMARCA2_ENST00000302401.3_Missense_Mutation_p.K157N|SMARCA2_ENST00000324954.5_Missense_Mutation_p.K115N|SMARCA2_ENST00000349721.2_Missense_Mutation_p.K1469N			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1469	Bromo.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ACCTGGAGAAGGATGTCATGC	0.438													39	508					0	0	0	0	C	2182188	G	C	2182188	3	2	255	1	0	0	0	0	1	0	0	0	14857	991	35	4	4525	4	SMARCA2	9	2182188	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	2064704	2182188	139031243	64	45705											
SIT1	27240	broad.mit.edu	37	chr9	35650526	35650526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccggatggctcctgctcCggcccctggtccactgggac	3	7	13	18	2	0	0	0	0	0	0	3	2	3	2	7	5	1	2	7	5	0	0			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:35650526C>A	ENST00000259608.3	-	2	295	c.209G>T	c.(208-210)cGg>cTg	p.R70L	SIT1_ENST00000474403.1_Intron	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	70					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTCCTGCTCCGGCCCCTGGT	0.597													16	319					1.99824e-07	2.70153e-07	1	0	A	35650526	C	A	35650526	3	1	255	1	0	0	0	0	1	0	0	0	14432	652	23	3	397	3	SIT1	9	35650526	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	33468338	35650526	105562905	65	45706											
FRMPD1	22844	broad.mit.edu	37	chr9	37731065	37731065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accccctggacctcctgaaaGaagaccccgtggcctttgaa	10	7	9	15	1	0	4	0	2	0	2	1	5	1	5	7	2	0	0	7	2	3	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:37731065G>A	ENST00000539465.1	+	9	1416	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	FRMPD1_ENST00000377765.3_Missense_Mutation_p.E275K|FRMPD1_ENST00000536622.1_Missense_Mutation_p.E97K|FRMPD1_ENST00000541302.1_Missense_Mutation_p.E144K|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	275	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTCCTGAAAGAAGACCCCGT	0.517													35	244					0	0	0	0	A	37731065	G	A	37731065	3	1	255	1	0	0	0	0	1	0	0	0	6105	943	33	2	853	2	FRMPD1	9	37731065	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	2080539	37731065	103482366	66	45707											
VPS13A	23230	broad.mit.edu	37	chr9	79824394	79824394	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaaattagttacacagatCataaaaaatcttcaggtgaa	20	10	6	5	0	3	2	2	1	1	1	3	3	3	2	0	1	1	1	0	1	8	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:79824394C>T	ENST00000360280.3	+	6	701	c.441C>T	c.(439-441)atC>atT	p.I147I	VPS13A_ENST00000376634.4_Silent_p.I147I|VPS13A_ENST00000376636.3_Silent_p.I147I|VPS13A_ENST00000357409.5_Silent_p.I147I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	147					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTACACAGATCATAAAAAATC	0.254													7	19					0	0	0	0	T	79824394	C	T	79824394	2	4	255	1	0	0	0	0	0	0	0	1	17285	816	29	2		2	VPS13A	9	79824394	Silent	SNP	C	TCGA-CV-6940-01A-11D-1912-08	42093329	79824394	61389037	67	45708											
TLE4	7091	broad.mit.edu	37	chr9	82187743	82187743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagatgtacccgcagaccaGacacccagtgagtgcgggcg	11	4	13	13	3	0	4	0	1	0	3	0	4	0	4	3	1	2	2	3	1	2	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:82187743G>A	ENST00000376520.4	+	1	866	c.38G>A	c.(37-39)aGa>aAa	p.R13K	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.R13K|TLE4_ENST00000376544.3_Missense_Mutation_p.R13K|TLE4_ENST00000376552.2_Missense_Mutation_p.R13K|TLE4_ENST00000265284.6_Missense_Mutation_p.R13K			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCGCAGACCAGACACCCAGTG	0.672													8	41					0	0	0	0	A	82187743	G	A	82187743	3	1	255	1	0	0	0	0	1	0	0	0	16035	942	33	2	40	2	TLE4	9	82187743	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	2363349	82187743	59025688	68	45709											
PTCH1	5727	broad.mit.edu	37	chr9	98218642	98218642	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggcactgagcttgattccGatgaggcccatcatgccgaa	10	8	11	12	3	1	3	1	3	0	0	2	5	2	3	3	2	2	2	3	2	1	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:98218642G>A	ENST00000430669.2	-	19	3609	c.3024C>T	c.(3022-3024)atC>atT	p.I1008I	PTCH1_ENST00000437951.1_Silent_p.I1008I|PTCH1_ENST00000331920.6_Silent_p.I1074I|PTCH1_ENST00000418258.1_Silent_p.I923I|PTCH1_ENST00000375274.2_Silent_p.I1073I|PTCH1_ENST00000429896.2_Silent_p.I923I|PTCH1_ENST00000421141.1_Silent_p.I923I			Q13635	PTC1_HUMAN	patched 1	1074					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCTTGATTCCGATGAGGCCCA	0.587													29	36					0	0	0	0	A	98218642	G	A	98218642	2	1	255	1	0	0	0	0	0	0	0	1	12809	1048	37	1		1	PTCH1	9	98218642	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08	16030899	98218642	42994789	69	45710											
RALGPS1	9649	broad.mit.edu	37	chr9	129974476	129974476	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaccatggaggggcctctGagaagaaaaaccctgctcaa	13	5	10	13	0	2	2	1	1	1	2	2	4	2	3	4	3	2	1	4	3	4	0			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:129974476G>A	ENST00000259351.5	+	15	1581	c.1314G>A	c.(1312-1314)ctG>ctA	p.L438L	RALGPS1_ENST00000424082.2_Silent_p.L396L|RALGPS1_ENST00000373434.1_Silent_p.L396L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	438	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGGGCCTCTGAGAAGAAAAA	0.607													11	28					0	0	0	0	A	129974476	G	A	129974476	2	1	255	1	0	0	0	0	0	0	0	1	13099	1277	45	2		2	RALGPS1	9	129974476	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08	31755834	129974476	11238955	70	45711											
TBC1D13	54662	broad.mit.edu	37	chr9	131566365	131566365	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaaggtttactccaccttGaaagataaggatgtggagct	13	10	12	6	0	0	3	0	1	0	2	1	6	1	5	2	3	2	2	2	3	4	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:131566365G>C	ENST00000372648.5	+	9	1035	c.885G>C	c.(883-885)ttG>ttC	p.L295F	TBC1D13_ENST00000223865.8_Intron|TBC1D13_ENST00000539497.1_Missense_Mutation_p.L114F	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	295	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						ACTCCACCTTGAAAGATAAGG	0.537													15	60					0	0	0	0	C	131566365	G	C	131566365	3	2	255	1	0	0	0	0	1	0	0	0	15693	1281	45	2	919	2	TBC1D13	9	131566365	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	1591889	131566365	9647066	71	45712											
GTF3C4	9329	broad.mit.edu	37	chr9	135554462	135554462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatagcagtgagcccctgcGgtgcatacctggccatcatc	8	8	12	13	1	1	1	1	1	0	0	2	2	1	2	4	3	5	2	4	3	2	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:135554462G>T	ENST00000372146.4	+	2	2020	c.1456G>T	c.(1456-1458)Ggt>Tgt	p.G486C	GTF3C4_ENST00000483873.2_3'UTR	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	486					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GAGCCCCTGCGGTGCATACCT	0.468													15	76					7.93312e-07	1.06656e-06	1	0	T	135554462	G	T	135554462	3	4	255	1	0	0	0	0	1	0	0	0	6925	1116	39	3	1462	3	GTF3C4	9	135554462	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	3988097	135554462	5658969	72	45713											
NOTCH1	4851	broad.mit.edu	37	chr9	139397641	139397641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccacacttactctgcacGgcctcgatcttgtaggggat	7	10	12	12	2	2	0	0	0	2	0	3	2	2	1	2	4	2	2	2	4	2	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:139397641G>A	ENST00000277541.6	-	27	5235	c.5160C>T	c.(5158-5160)gcC>gcT	p.A1720A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1720					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.A1721_V1722>YG(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TACTCTGCACGGCCTCGATCT	0.657			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			8	41					0	0	0	0	A	139397641	G	A	139397641	2	1	255	1	0	0	0	0	0	0	0	1	10617	1103	39	1		1	NOTCH1	9	139397641	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08	3843179	139397641	1815790	73	45714											
MAPK8	5599	broad.mit.edu	37	chr10	49634078	49634079	+	Frame_Shift_Del	DEL	TT	TT	-																															gaaactcttccctgatgtccTtttcccagctgactcagaac																										TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:49634078_49634079delTT	ENST00000374189.1	+	8	1017_1018	c.836_837delTT	c.(835-837)cfs	p.L279fs	MAPK8_ENST00000374182.3_Frame_Shift_Del_p.L279fs|MAPK8_ENST00000360332.3_Frame_Shift_Del_p.L279fs|MAPK8_ENST00000395611.3_Intron			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	279	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CCTGATGTCCTTTTCCCAGCTG	0.386													24	70	---	---	---	---					-	49634079	TT	-	49634078	7	5	255	1	0	1	0	1	0	0	0	0	9352	1609	56	0	938	0	MAPK8	10	49634078	Frame_Shift_Del	DEL	TT	TCGA-CV-6940-01A-11D-1912-08		49634078	85900669	74	45715											
ERCC6	2074	broad.mit.edu	37	chr10	50678260	50678260	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttttccaaaacataaTcgtcattgctctgttccttg	11	15	5	10	1	2	0	1	0	1	0	5	0	4	0	2	0	3	3	2	0	4	6			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:50678260T>A	ENST00000355832.5	-	18	3824	c.3746A>T	c.(3745-3747)gAt>gTt	p.D1249V	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'UTR|ERCC6_ENST00000542458.1_Missense_Mutation_p.D619V	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1249					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAAAACATAATCGTCATTGCT	0.408								Direct reversal of damage;Nucleotide excision repair (NER)					113	89					0	0	0	0	A	50678260	T	A	50678260	3	1	255	1	0	0	0	0	1	0	0	0	5255	1435	50	5	751	5	ERCC6	10	50678260	Missense_Mutation	SNP	T	TCGA-CV-6940-01A-11D-1912-08	1044182	50678260	84856487	75	45716											
UNC5B	219699	broad.mit.edu	37	chr10	73050851	73050851	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttccaccccgtcaactttAagacggcaaggcccagtaag	11	8	9	13	2	1	1	1	0	0	1	2	1	2	1	4	2	1	3	4	2	4	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:73050851A>C	ENST00000335350.6	+	9	1695	c.1279A>C	c.(1279-1281)Aag>Cag	p.K427Q	UNC5B_ENST00000373192.4_Missense_Mutation_p.K416Q	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	427					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CGTCAACTTTAAGACGGCAAG	0.607													19	178					0	0	0	0	C	73050851	A	C	73050851	3	2	255	1	0	0	0	0	1	0	0	0	17088	363	13	5	1313	5	UNC5B	10	73050851	Missense_Mutation	SNP	A	TCGA-CV-6940-01A-11D-1912-08	22372591	73050851	62483896	76	45717											
CYP2E1	1571	broad.mit.edu	37	chr10	135347301	135347301	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtacacaatggacggtatCaccgtgactgtggccgacct	9	10	11	11	3	1	1	1	1	0	0	1	3	1	2	3	3	1	2	3	3	3	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:135347301C>G	ENST00000463117.2	+	8	1139	c.867C>G	c.(865-867)atC>atG	p.I289M	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.I289M			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	289					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	p.I289I(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TGGACGGTATCACCGTGACTG	0.527									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				29	130					0	0	0	0	G	135347301	C	G	135347301	3	3	255	1	0	0	0	0	1	0	0	0	4202	816	29	2	889	2	CYP2E1	10	135347301	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	62296450	135347301	187446	77	45718											
FRG2B	441581	broad.mit.edu	37	chr10	135438868	135438868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgctgtgcccacacctggGctaggtcttgataaacagcc	8	10	10	13	0	2	1	0	1	2	0	2	1	2	1	3	2	4	2	3	2	3	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:135438868G>A	ENST00000443774.1	-	4	624	c.575C>T	c.(574-576)gCc>gTc	p.A192V	FRG2B_ENST00000425520.1_Missense_Mutation_p.A191V			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	191						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCACACCTGGGCTAGGTCTTG	0.572													10	101					0	0	0	0	A	135438868	G	A	135438868	3	1	255	1	0	0	0	0	1	0	0	0	6095	1203	42	4	267	4	FRG2B	10	135438868	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	91567	135438868	95879	78	45719											
PDHX	8050	broad.mit.edu	37	chr11	34988327	34988327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatccccggcctgtgatccCaccagtatcaactcctggac	8	10	7	16	1	1	1	1	1	0	0	4	2	4	2	6	2	1	1	6	2	3	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:34988327C>T	ENST00000448838.3	+	6	979	c.737C>T	c.(736-738)cCa>cTa	p.P246L	PDHX_ENST00000430469.2_Intron|PDHX_ENST00000227868.4_Missense_Mutation_p.P261L	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	261					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CCTGTGATCCCACCAGTATCA	0.488													24	41					0	0	0	0	T	34988327	C	T	34988327	3	4	255	1	0	0	0	0	1	0	0	0	11738	594	21	4	923	4	PDHX	11	34988327	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08		34988327	100018189	79	45720											
OR4C46	119749	broad.mit.edu	37	chr11	51516007	51516007	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacctgtgtctcccacatCacggttgtcatcttattctt	6	16	5	14	1	5	0	2	0	3	0	7	0	6	0	3	1	0	1	3	1	1	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:51516007C>T	ENST00000328188.1	+	1	726	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCTCCCACATCACGGTTGTCA	0.468													23	45					0	0	0	0	T	51516007	C	T	51516007	2	4	255	1	0	0	0	0	0	0	0	1	11122	816	29	2		2	OR4C46	11	51516007	Silent	SNP	C	TCGA-CV-6940-01A-11D-1912-08	16527680	51516007	83490509	80	45721											
FKBP2	2286	broad.mit.edu	37	chr11	64009862	64009862	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgcccacagagacatGaggctgagctggttccgggt	7	9	15	10	1	1	3	0	2	1	1	2	4	2	3	2	3	2	3	2	3	0	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64009862G>T	ENST00000394540.3	+	2	473	c.3G>T	c.(1-3)atG>atT	p.M1I	FKBP2_ENST00000449942.2_Start_Codon_SNP_p.M1I|FKBP2_ENST00000309366.4_Start_Codon_SNP_p.M1I	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	1					protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(2)|lung(3)	5						ACAGAGACATGAGGCTGAGCT	0.647													14	104					3.45872e-05	4.57382e-05	1	0	T	64009862	G	T	64009862	1	4	255	1	0	0	0	0	0	0	0	0	5953	1290	45	2		2	FKBP2	11	64009862	Translation_Start_Site	SNP	G	TCGA-CV-6940-01A-11D-1912-08	12493855	64009862	70996654	81	45722											
FKBP2	2286	broad.mit.edu	37	chr11	64011493	64011493	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaaatagagcgacgaactGagctgtaaccagactgggga	15	6	12	8	2	1	3	1	1	0	2	1	6	1	4	1	2	4	2	1	2	5	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64011493G>C	ENST00000394540.3	+	6	891	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	FKBP2_ENST00000449942.2_Missense_Mutation_p.E141Q|FKBP2_ENST00000309366.4_Missense_Mutation_p.E141Q	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	141					protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(2)|lung(3)	5						GCGACGAACTGAGCTGTAACC	0.517													16	136					0	0	0	0	C	64011493	G	C	64011493	3	2	255	1	0	0	0	0	1	0	0	0	5953	1291	45	2	439	2	FKBP2	11	64011493	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	1631	64011493	70995023	82	45723											
NRXN2	9379	broad.mit.edu	37	chr11	64390422	64390422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcacattggggtcgctctCggcggccagcgccagcacct	5	6	13	17	5	1	0	0	0	1	0	3	0	1	0	4	4	2	3	4	4	0	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64390422C>T	ENST00000265459.6	-	21	4437	c.3976G>A	c.(3976-3978)Gag>Aag	p.E1326K	NRXN2_ENST00000377559.3_Missense_Mutation_p.E1256K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E1319K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E1326K|NRXN2_ENST00000301894.2_Missense_Mutation_p.E280K	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1326	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGGTCGCTCTCGGCGGCCAGC	0.706													19	5					0	0	0	0	T	64390422	C	T	64390422	3	4	255	1	0	0	0	0	1	0	0	0	10737	893	31	1	1174	1	NRXN2	11	64390422	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	378929	64390422	70616094	83	45724											
NRXN2	9379	broad.mit.edu	37	chr11	64457916	64457916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgccggctcctcctctccCggcccccccctcggagaaca	5	6	8	22	4	1	1	0	0	1	1	6	2	3	1	8	3	1	1	8	3	1	0	rs138744105		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64457916C>A	ENST00000265459.6	-	5	1272	c.811G>T	c.(811-813)Ggg>Tgg	p.G271W	NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Missense_Mutation_p.G271W|NRXN2_ENST00000377551.1_Missense_Mutation_p.G271W	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	271					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCTCCTCTCCCGGCCCCCCCC	0.642													8	47					0.000442599	0.000566715	1	0	A	64457916	C	A	64457916	3	1	255	1	0	0	0	0	1	0	0	0	10737	652	23	3	4672	3	NRXN2	11	64457916	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	67494	64457916	70548600	84	45725											
DHCR7	1717	broad.mit.edu	37	chr11	71148918	71148918	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccaggtaccacccgaaGtggtcatggcagatgtcaat	11	7	11	12	1	2	1	2	0	0	1	2	2	2	1	3	3	2	2	3	3	3	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:71148918G>A	ENST00000355527.3	-	8	1179	c.903C>T	c.(901-903)caC>caT	p.H301H	DHCR7_ENST00000407721.2_Silent_p.H301H	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	301					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	ACCACCCGAAGTGGTCATGGC	0.582									Smith-Lemli-Opitz syndrome				12	93					0	0	0	0	A	71148918	G	A	71148918	2	1	255	1	0	0	0	0	0	0	0	1	4514	1020	36	4		4	DHCR7	11	71148918	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08	6691002	71148918	63857598	85	45726											
MMP1	4312	broad.mit.edu	37	chr11	102663445	102663445	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagctcaacttccgggtaGaagggatttgtgcgcatgta	9	12	13	7	2	1	2	1	1	0	1	2	3	2	3	1	2	3	4	1	2	4	5			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:102663445G>C	ENST00000315274.6	-	7	991	c.924C>G	c.(922-924)ttC>ttG	p.F308L	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	308	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CTTCCGGGTAGAAGGGATTTG	0.433													17	41					0	0	0	0	C	102663445	G	C	102663445	3	2	255	1	0	0	0	0	1	0	0	0	9717	933	33	2	501	2	MMP1	11	102663445	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	31514527	102663445	32343071	86	45727											
PPHLN1	51535	broad.mit.edu	37	chr12	42792759	42792759	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtcagctaaccactcgctCtaaagcaatagcatcaaaaa	17	8	5	11	1	3	0	2	0	1	0	4	0	3	0	1	0	4	4	1	0	8	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:42792759C>G	ENST00000432191.2	+	8	779	c.707C>G	c.(706-708)tCt>tGt	p.S236C	PPHLN1_ENST00000549190.1_Missense_Mutation_p.S309C|PPHLN1_ENST00000552761.1_Missense_Mutation_p.S243C|PPHLN1_ENST00000358314.7_Missense_Mutation_p.S291C|PPHLN1_ENST00000449194.2_Missense_Mutation_p.S272C|PPHLN1_ENST00000317560.9_Missense_Mutation_p.S224C|PPHLN1_ENST00000337898.6_Missense_Mutation_p.S236C|PPHLN1_ENST00000395568.2_Missense_Mutation_p.S291C|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S298C|PPHLN1_ENST00000256678.8_Missense_Mutation_p.S171C	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	291					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		ACCACTCGCTCTAAAGCAATA	0.393													21	43					0	0	0	0	G	42792759	C	G	42792759	3	3	255	1	0	0	0	0	1	0	0	0	12386	913	32	2	927	2	PPHLN1	12	42792759	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08		42792759	91059136	87	45728											
NELL2	4753	broad.mit.edu	37	chr12	44913891	44913891	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcttggtgatgtcattgCggatggtgtcagcctggcaa	8	12	14	7	1	3	1	2	1	1	0	3	2	3	2	1	4	2	1	1	4	2	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:44913891C>G	ENST00000429094.2	-	19	2801	c.2297G>C	c.(2296-2298)cGc>cCc	p.R766P	NELL2_ENST00000395487.2_Missense_Mutation_p.R765P|NELL2_ENST00000549027.1_Missense_Mutation_p.R765P|NELL2_ENST00000551601.1_Missense_Mutation_p.R718P|NELL2_ENST00000333837.4_Missense_Mutation_p.R789P|NELL2_ENST00000452445.2_Missense_Mutation_p.R766P|NELL2_ENST00000437801.2_Missense_Mutation_p.R816P	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	766	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GATGTCATTGCGGATGGTGTC	0.552													10	74					0	0	0	0	G	44913891	C	G	44913891	3	3	255	1	0	0	0	0	1	0	0	0	10404	768	27	3	161	3	NELL2	12	44913891	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	2121132	44913891	88938004	88	45729											
KRT5	3852	broad.mit.edu	37	chr12	52912854	52912854	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtactgctcgaacaacggctCcaggttctgcctcacagtct	8	10	9	14	2	3	0	1	0	2	0	5	1	4	0	2	2	5	4	2	2	3	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:52912854C>A	ENST00000252242.4	-	2	1036	c.646G>T	c.(646-648)Gag>Tag	p.E216*		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	216	Linker 1.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AACAACGGCTCCAGGTTCTGC	0.602													43	77					4.16155e-14	5.92408e-14	1	0	A	52912854	C	A	52912854	4	1	255	1	0	0	0	0	0	1	0	0	8531	864	30	2	1158	2	KRT5	12	52912854	Nonsense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	7998963	52912854	80939041	89	45730											
ITGA7	3679	broad.mit.edu	37	chr12	56087845	56087845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgcccacatcccgctcaGactgcatggctctctcgccc	5	9	8	19	2	2	1	1	0	1	1	5	1	3	1	3	1	3	4	3	1	0	0			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:56087845G>A	ENST00000257880.7	-	20	2846	c.2627C>T	c.(2626-2628)tCt>tTt	p.S876F	ITGA7_ENST00000394230.2_Missense_Mutation_p.S836F|ITGA7_ENST00000452168.2_Missense_Mutation_p.S739F|ITGA7_ENST00000347027.6_Missense_Mutation_p.S826F|ITGA7_ENST00000555728.1_Missense_Mutation_p.S876F|ITGA7_ENST00000257879.6_Missense_Mutation_p.S832F|ITGA7_ENST00000553804.1_Missense_Mutation_p.S836F|ITGA7_ENST00000394229.2_Missense_Mutation_p.S832F			Q13683	ITA7_HUMAN	integrin, alpha 7	876					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATCCCGCTCAGACTGCATGGC	0.592													4	21					0	0	0	0	A	56087845	G	A	56087845	3	1	255	1	0	0	0	0	1	0	0	0	7934	942	33	2	946	2	ITGA7	12	56087845	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	3174991	56087845	77764050	90	45731											
MYO1H	283446	broad.mit.edu	37	chr12	109863801	109863801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccttctagaaaccctcatCtctaaggagccctcctacat	11	10	5	15	0	3	1	1	0	2	1	5	2	4	2	4	1	4	0	4	1	4	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:109863801C>G	ENST00000310903.5	+	18	1834	c.1728C>G	c.(1726-1728)atC>atG	p.I576M	MYO1H_ENST00000431443.2_Missense_Mutation_p.I586M			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAACCCTCATCTCTAAGGAGC	0.502													12	38					0	0	0	0	G	109863801	C	G	109863801	3	3	255	1	0	0	0	0	1	0	0	0	10145	903	32	2	1794	2	MYO1H	12	109863801	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	53775956	109863801	23988094	91	45732											
VPS33A	65082	broad.mit.edu	37	chr12	122723220	122723220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggcaaactagtcttaacaCcttgatcaacgagtgctttt	12	12	8	9	1	2	1	1	1	1	0	2	3	2	1	1	1	4	2	1	1	4	5			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:122723220C>A	ENST00000267199.4	-	10	1328	c.1216G>T	c.(1216-1218)Gtg>Ttg	p.V406L	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.V367L	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	406					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGTCTTAACACCTTGATCAAC	0.343													61	124					3.13765e-25	4.60189e-25	1	0	A	122723220	C	A	122723220	3	1	255	1	0	0	0	0	1	0	0	0	17297	507	18	4	590	4	VPS33A	12	122723220	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	12859419	122723220	11128675	92	45733											
EIF2B1	1967	broad.mit.edu	37	chr12	124107222	124107222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgctggtttagtggaaaGagccggacaaacttgaaact	12	11	11	7	1	1	2	0	1	1	1	1	4	1	4	1	3	4	2	1	3	4	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:124107222G>A	ENST00000539951.1	-	6	625	c.599C>T	c.(598-600)tCt>tTt	p.S200F	EIF2B1_ENST00000424014.2_Silent_p.L238L			Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	0					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TTAGTGGAAAGAGCCGGACAA	0.418													16	79					0	0	0	0	A	124107222	G	A	124107222	3	1	255	1	0	0	0	0	1	0	0	0	5036	929	33	2	211	2	EIF2B1	12	124107222	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	1384002	124107222	9744673	93	45734											
TMEM132D	121256	broad.mit.edu	37	chr12	130184841	130184841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcacggcagcttctccccgGcgctgcggtcgtcccagtct	3	8	13	17	5	2	0	0	0	2	0	5	0	3	0	3	4	2	4	3	4	0	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:130184841G>T	ENST00000422113.2	-	2	808	c.482C>A	c.(481-483)gCc>gAc	p.A161D		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	161						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTCTCCCCGGCGCTGCGGTC	0.642													7	24					8.12818e-05	0.000106325	1	0	T	130184841	G	T	130184841	3	4	255	1	0	0	0	0	1	0	0	0	16141	1203	42	4	2849	4	TMEM132D	12	130184841	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	6077619	130184841	3667054	94	45735											
POLE	5426	broad.mit.edu	37	chr12	133245062	133245062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccagctggtgctggatccGatggtattcgctgcgactgg	5	11	14	11	3	0	0	0	0	0	0	3	3	2	1	2	4	3	4	2	4	1	2	rs116326665	by1000genomes	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:133245062G>A	ENST00000320574.5	-	19	2096	c.2053C>T	c.(2053-2055)Cgg>Tgg	p.R685W	POLE_ENST00000535270.1_Missense_Mutation_p.R658W	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	685					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGCTGGATCCGATGGTATTCG	0.592								DNA polymerases (catalytic subunits)					41	85					0	0	0	0	A	133245062	G	A	133245062	3	1	255	1	0	0	0	0	1	0	0	0	12268	1057	37	1	4931	1	POLE	12	133245062	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	3060221	133245062	606833	95	45736											
MAB21L1	4081	broad.mit.edu	37	chr13	36050072	36050072	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaattcggtgggggagatGacctcgaggccctcgtagcg	8	8	15	10	4	1	2	1	1	0	1	4	4	1	2	2	4	1	1	2	4	2	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:36050072G>A	ENST00000379919.4	-	1	760	c.204C>T	c.(202-204)gtC>gtT	p.V68V	NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	68					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TGGGGGAGATGACCTCGAGGC	0.552													24	64					0	0	0	0	A	36050072	G	A	36050072	2	1	255	1	0	0	0	0	0	0	0	1	9206	1277	45	2		2	MAB21L1	13	36050072	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08		36050072	79119806	96	45737											
RCBTB1	55213	broad.mit.edu	37	chr13	50123786	50123786	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcaatctctaccacccTgaaaagttttaagaaaaatg	15	10	7	9	0	1	2	0	1	1	1	2	2	1	2	2	1	2	3	2	1	7	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:50123786T>C	ENST00000378302.2	-	9	1115		c.e9-2		RCBTB1_ENST00000546015.1_Splice_Site|RCBTB1_ENST00000258646.3_Splice_Site	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1						cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TCTACCACCCTGAAAAGTTTT	0.502													3	60					0	0	0	0	C	50123786	T	C	50123786	5	2	255	1	0	0	0	0	0	0	1	0	13253	1594	55	5	762	5	RCBTB1	13	50123786	Splice_Site	SNP	T	TCGA-CV-6940-01A-11D-1912-08	14073714	50123786	65046092	97	45738											
PCDH20	64881	broad.mit.edu	37	chr13	61987588	61987588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattttccgggacccacaccGagatctgggaaacagggaac	12	6	11	12	2	1	1	0	0	1	1	2	5	2	4	3	3	2	0	3	3	2	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:61987588G>A	ENST00000409186.1	-	5	2749	c.644C>T	c.(643-645)tCg>tTg	p.S215L	PCDH20_ENST00000409204.4_Missense_Mutation_p.S215L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	188	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GACCCACACCGAGATCTGGGA	0.532													18	63					0	0	0	0	A	61987588	G	A	61987588	3	1	255	1	0	0	0	0	1	0	0	0	11586	1059	37	1	2215	1	PCDH20	13	61987588	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	11863802	61987588	53182290	98	45739											
DOCK9	23348	broad.mit.edu	37	chr13	99476728	99476728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgtttggggtaatgaccCtgaaggcggtgcatccttgt	7	12	14	8	2	0	2	0	2	0	0	1	3	1	2	2	4	1	3	2	4	2	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:99476728C>A	ENST00000376460.1	-	46	5134	c.5054G>T	c.(5053-5055)aGg>aTg	p.R1685M	DOCK9_ENST00000339416.2_Missense_Mutation_p.R1686M|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1686	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGTAATGACCCTGAAGGCGGT	0.542													30	85					9.65021e-13	1.34216e-12	1	0	A	99476728	C	A	99476728	3	1	255	1	0	0	0	0	1	0	0	0	4730	681	24	4	1192	4	DOCK9	13	99476728	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	37489140	99476728	15693150	99	45740											
PCCA	5095	broad.mit.edu	37	chr13	100982841	100982841	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacataatattgcattacttCgagaggtgataatcaactca	15	12	6	8	1	2	2	2	1	0	1	3	3	2	2	0	1	3	1	0	1	5	6			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:100982841C>T	ENST00000376285.1	+	17	1494	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	PCCA_ENST00000376279.3_Nonsense_Mutation_p.R486*|PCCA_ENST00000376286.4_Nonsense_Mutation_p.R460*	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	486	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGCATTACTTCGAGAGGTGAT	0.323													5	31					0	0	0	0	T	100982841	C	T	100982841	4	4	255	1	0	0	0	0	0	1	0	0	11575	876	31	1	1522	1	PCCA	13	100982841	Nonsense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	1506113	100982841	14187037	100	45741											
LIG4	3981	broad.mit.edu	37	chr13	108863582	108863582	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatctgcaaaaggaacgtgaGatgcaacagtttgtgaagtt	15	10	11	5	1	1	2	0	2	1	1	1	4	1	3	0	1	4	4	0	1	6	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:108863582G>C	ENST00000356922.4	-	2	307	c.35C>G	c.(34-36)tCt>tGt	p.S12C	LIG4_ENST00000405925.1_Missense_Mutation_p.S12C|LIG4_ENST00000442234.1_Missense_Mutation_p.S12C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	12					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGGAACGTGAGATGCAACAGT	0.353								Non-homologous end-joining					8	24					0	0	0	0	C	108863582	G	C	108863582	3	2	255	1	0	0	0	0	1	0	0	0	8837	942	33	2	2704	2	LIG4	13	108863582	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	7880741	108863582	6306296	101	45742											
DHRS2	10202	broad.mit.edu	37	chr14	24114362	24114362	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatccaggattggggagtCagaggactgtgcaggaatcg	10	8	15	8	1	1	1	1	0	0	1	4	5	3	5	2	5	1	1	2	5	1	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr14:24114362C>G	ENST00000250383.6	+	9	1219	c.743C>G	c.(742-744)tCa>tGa	p.S248*	DHRS2_ENST00000344777.7_Missense_Mutation_p.Q252E	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	226					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ATTGGGGAGTCAGAGGACTGT	0.567													33	111					0	0	0	0	G	24114362	C	G	24114362	4	3	255	1	0	0	0	0	0	1	0	0	4527	839	29	2	784	2	DHRS2	14	24114362	Nonsense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08		24114362	83235178	102	45743											
DISP2	85455	broad.mit.edu	37	chr15	40655921	40655921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttccagctcttcaggacCcccaccaacaacttccaccc	9	7	3	22	0	2	0	1	0	1	0	4	1	4	1	7	1	3	1	7	1	2	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:40655921C>T	ENST00000267889.3	+	2	302	c.215C>T	c.(214-216)cCc>cTc	p.P72L		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	72					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCTTCAGGACCCCCACCAACA	0.657													36	65					0	0	0	0	T	40655921	C	T	40655921	3	4	255	1	0	0	0	0	1	0	0	0	4577	623	22	4	221	4	DISP2	15	40655921	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08		40655921	61875471	103	45744											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42132731	42132731	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcccgcagtgaccccctCtgactgctacgtgactctct	5	11	7	18	2	2	3	0	3	2	0	4	3	3	3	4	0	2	2	4	0	1	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42132731C>G	ENST00000382448.4	+	8	794	c.785C>G	c.(784-786)tCt>tGt	p.S262C	PLA2G4B_ENST00000452633.1_Missense_Mutation_p.S31C|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S262C|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S31C	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		31	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GTGACCCCCTCTGACTGCTAC	0.622													17	62					0	0	0	0	G	42132731	C	G	42132731	3	3	255	1	0	0	0	0	1	0	0	0	8008	913	32	2	815	2	JMJD7-PLA2G4B	15	42132731	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	1476810	42132731	60398661	104	45745			1	67		5	5	2045	N	G_C	3.658628e-10
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42132977	42132977	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttttcccctccagaatgtCatggaactgaaagtctttga	10	14	7	10	0	3	3	1	2	2	1	5	4	5	4	3	1	1	0	3	1	3	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42132977C>T	ENST00000382448.4	+	9	927	c.918C>T	c.(916-918)gtC>gtT	p.V306V	PLA2G4B_ENST00000452633.1_Silent_p.V75V|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.V306V|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.V75V	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		75	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TCCAGAATGTCATGGAACTGA	0.592													20	62					0	0	0	0	T	42132977	C	T	42132977	2	4	255	1	0	0	0	0	0	0	0	1	8008	813	29	2		2	JMJD7-PLA2G4B	15	42132977	Silent	SNP	C	TCGA-CV-6940-01A-11D-1912-08	246	42132977	60398415	105	45746			1	67		5	5	2045	N	G_C	3.658628e-10
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42133453	42133453	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccgtggcgagtggctcgtCagcaatggcgttctggtggt	5	10	17	9	4	2	0	1	0	1	0	3	2	2	0	1	5	1	3	1	5	1	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42133453C>T	ENST00000382448.4	+	11	1119	c.1110C>T	c.(1108-1110)gtC>gtT	p.V370V	PLA2G4B_ENST00000452633.1_Silent_p.V139V|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.V370V|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.V139V	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		139	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						AGTGGCTCGTCAGCAATGGCG	0.667													17	85					0	0	0	0	T	42133453	C	T	42133453	2	4	255	1	0	0	0	0	0	0	0	1	8008	813	29	2		2	JMJD7-PLA2G4B	15	42133453	Silent	SNP	C	TCGA-CV-6940-01A-11D-1912-08	476	42133453	60397939	106	45747			1	67		5	5	2045	N	G_C	3.658628e-10
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42134763	42134763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttttcaggagcccctgatGagagtggagctgaaaaaaga	13	8	14	6	0	1	4	1	3	0	2	1	7	1	6	2	3	2	2	2	3	3	2	rs2290552	by1000genomes	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42134763G>A	ENST00000382448.4	+	15	1419	c.1410G>A	c.(1408-1410)atG>atA	p.M470I	PLA2G4B_ENST00000452633.1_Missense_Mutation_p.M239I|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.M470I|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.M239I	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		239	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						AGCCCCTGATGAGAGTGGAGC	0.637													7	37					0	0	0	0	A	42134763	G	A	42134763	3	1	255	1	0	0	0	0	1	0	0	0	8008	1290	45	2	1468	2	JMJD7-PLA2G4B	15	42134763	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	1310	42134763	60396629	107	45748			1	67		5	5	2045	N	G_C	3.658628e-10
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42134775	42134775	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctgatgagagtggagctGaaaaaagaagcagggtgaga	15	5	15	6	0	0	5	0	4	0	3	0	8	0	6	2	2	2	2	2	2	4	0			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42134775G>A	ENST00000382448.4	+	15	1431	c.1422G>A	c.(1420-1422)ctG>ctA	p.L474L	PLA2G4B_ENST00000452633.1_Silent_p.L243L|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.L474L|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.L243L	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		243	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GAGTGGAGCTGAAAAAAGAAG	0.627													7	38					0	0	0	0	A	42134775	G	A	42134775	2	1	255	1	0	0	0	0	0	0	0	1	8008	1277	45	2		2	JMJD7-PLA2G4B	15	42134775	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08	12	42134775	60396617	108	45749			1	67		5	5	2045	N	G_C	3.658628e-10
WDR76	79968	broad.mit.edu	37	chr15	44158387	44158387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatgtgggatcctaaacaaGaagactgtgtcatagttggc	12	10	11	8	0	1	2	1	0	0	2	2	3	2	3	2	2	1	1	2	2	5	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:44158387G>A	ENST00000263795.6	+	13	1748	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	WDR76_ENST00000381246.2_Missense_Mutation_p.E496K|WDR76_ENST00000478130.1_3'UTR	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	560										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TCCTAAACAAGAAGACTGTGT	0.458													16	54					0	0	0	0	A	44158387	G	A	44158387	3	1	255	1	0	0	0	0	1	0	0	0	17422	943	33	2	1728	2	WDR76	15	44158387	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	2023612	44158387	58373005	109	45750											
DUOXA2	405753	broad.mit.edu	37	chr15	45408913	45408913	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggcgggacactacgcCtcggccacgctatggtaagt	8	7	12	14	4	0	0	0	0	0	0	1	1	0	1	3	4	1	2	3	4	3	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:45408913C>T	ENST00000323030.5	+	4	825	c.540C>T	c.(538-540)gcC>gcT	p.A180A		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	180					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GACACTACGCCTCGGCCACGC	0.647													7	17					0	0	0	0	T	45408913	C	T	45408913	2	4	255	1	0	0	0	0	0	0	0	1	4839	668	24	4		4	DUOXA2	15	45408913	Silent	SNP	C	TCGA-CV-6940-01A-11D-1912-08	1250526	45408913	57122479	110	45751											
ITGA11	22801	broad.mit.edu	37	chr15	68605146	68605146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagggaggcccgataccatCgtatctctccagcgagctgt	9	8	12	12	3	1	0	0	0	1	0	4	4	2	1	3	2	3	2	3	2	3	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:68605146C>T	ENST00000423218.2	-	24	3033	c.2938G>A	c.(2938-2940)Gat>Aat	p.D980N	ITGA11_ENST00000315757.7_Missense_Mutation_p.D980N			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	980					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CCGATACCATCGTATCTCTCC	0.637													7	29					0	0	0	0	T	68605146	C	T	68605146	3	4	255	1	0	0	0	0	1	0	0	0	7927	884	31	1	656	1	ITGA11	15	68605146	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	23196233	68605146	33926246	111	45752											
OR4F4	26682	broad.mit.edu	37	chr15	102462360	102462360	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagatctaaaactttacactAgaatgtgcatcccattttct	14	14	4	9	0	2	2	0	0	2	2	3	2	3	2	1	0	3	1	1	0	6	6			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:102462360A>G	ENST00000326183.3	-	1	938	c.903T>C	c.(901-903)tcT>tcC	p.S301S		NM_001004195.2	NP_001004195.2	Q96R69	OR4F4_HUMAN	olfactory receptor, family 4, subfamily F, member 4	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ACTTTACACTAGAATGTGCAT	0.343													23	267					0	0	0	0	G	102462360	A	G	102462360	2	3	255	1	0	0	0	0	0	0	0	1	11135	407	15	5		5	OR4F4	15	102462360	Silent	SNP	A	TCGA-CV-6940-01A-11D-1912-08	33857214	102462360	69032	112	45753											
ARL6IP1	23204	broad.mit.edu	37	chr16	18809332	18809332	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cataacaaaacaggaaacgcCggacagaacagatggatcta	19	4	9	9	2	1	2	0	0	1	2	1	5	1	5	1	3	4	0	1	3	6	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:18809332C>G	ENST00000304414.7	-	3	416	c.205G>C	c.(205-207)Ggc>Cgc	p.G69R	RP11-1035H13.3_ENST00000567078.2_Missense_Mutation_p.G69R|ARL6IP1_ENST00000562819.1_Intron|ARL6IP1_ENST00000546206.2_Missense_Mutation_p.G40R	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	69						integral to membrane	protein binding			breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						CAGGAAACGCCGGACAGAACA	0.343													7	44					0	0	0	0	G	18809332	C	G	18809332	3	3	255	1	0	0	0	0	1	0	0	0	946	652	23	3	422	3	ARL6IP1	16	18809332	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08		18809332	71545421	113	45754											
DNAH3	55567	broad.mit.edu	37	chr16	20975470	20975470	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttacccttggacatggagaGaacctccaagatcttatctt	11	12	8	10	0	2	2	0	0	2	2	3	5	3	4	3	2	2	1	3	2	4	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:20975470G>C	ENST00000261383.3	-	53	9735	c.9736C>G	c.(9736-9738)Ctc>Gtc	p.L3246V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3246	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GACATGGAGAGAACCTCCAAG	0.443													33	98					0	0	0	0	C	20975470	G	C	20975470	3	2	255	1	0	0	0	0	1	0	0	0	4640	942	33	2	2653	2	DNAH3	16	20975470	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	2166138	20975470	69379283	114	45755											
LONP2	83752	broad.mit.edu	37	chr16	48382183	48382183	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgactggagaaattacactGagaggtcttgttcttccagt	11	13	10	7	0	2	3	0	2	2	2	3	5	3	3	1	2	1	1	1	2	2	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:48382183G>C	ENST00000285737.4	+	14	2412	c.2319G>C	c.(2317-2319)ctG>ctC	p.L773L	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Silent_p.L729L	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	773					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAATTACACTGAGAGGTCTTG	0.353													31	112					0	0	0	0	C	48382183	G	C	48382183	2	2	255	1	0	0	0	0	0	0	0	1	8957	1277	45	2		2	LONP2	16	48382183	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08	27406713	48382183	41972570	115	45756											
CHD9	80205	broad.mit.edu	37	chr16	53272475	53272475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacaaatgatacagcaatacGagatgtacttcagggattca	16	9	9	7	1	2	2	2	1	0	1	2	5	2	3	0	1	4	2	0	1	5	5			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:53272475G>A	ENST00000566029.1	+	12	3063	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	CHD9_ENST00000564845.1_Missense_Mutation_p.E952K|CHD9_ENST00000398510.3_Missense_Mutation_p.E952K|CHD9_ENST00000447540.1_Missense_Mutation_p.E952K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	952	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACAGCAATACGAGATGTACTT	0.373													46	127					0	0	0	0	A	53272475	G	A	53272475	3	1	255	1	0	0	0	0	1	0	0	0	3361	1059	37	1	2896	1	CHD9	16	53272475	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	4890292	53272475	37082278	116	45757											
VPS53	55275	broad.mit.edu	37	chr17	617910	617910	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgtgagctgcagcacggcttCcagctcctccacgaactcca	8	7	9	17	3	0	1	0	1	0	0	4	2	4	1	4	1	5	5	4	1	1	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:617910C>G	ENST00000437048.2	-	1	186	c.40G>C	c.(40-42)Gaa>Caa	p.E14Q	VPS53_ENST00000401468.3_Missense_Mutation_p.E14Q|VPS53_ENST00000571805.1_Missense_Mutation_p.E14Q|VPS53_ENST00000574029.1_Missense_Mutation_p.E14Q|VPS53_ENST00000291074.5_Missense_Mutation_p.E14Q|VPS53_ENST00000446250.2_5'UTR	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	14					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AGCACGGCTTCCAGCTCCTCC	0.701													16	99					0	0	0	0	G	617910	C	G	617910	3	3	255	1	0	0	0	0	1	0	0	0	17311	864	30	2	2561	2	VPS53	17	617910	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08		617910	80577300	117	45758											
ZNF594	84622	broad.mit.edu	37	chr17	5087253	5087253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggccactaacctcatatCtatgggagctttctcctgca	8	14	7	12	0	3	0	1	0	2	0	4	1	3	1	3	2	3	2	3	2	3	5			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:5087253C>T	ENST00000399604.4	-	1	439	c.299G>A	c.(298-300)aGa>aAa	p.R100K	ZNF594_ENST00000575779.1_Missense_Mutation_p.R100K			Q96JF6	ZN594_HUMAN	zinc finger protein 594	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AACCTCATATCTATGGGAGCT	0.373													12	57					0	0	0	0	T	5087253	C	T	5087253	3	4	255	1	0	0	0	0	1	0	0	0	18119	913	32	2	2128	2	ZNF594	17	5087253	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	4469343	5087253	76107957	118	45759											
TP53	7157	broad.mit.edu	37	chr17	7577102	7577119	+	In_Frame_Del	DEL	CCAGGACAGGCACAAACA	CCAGGACAGGCACAAACA	-																															cctctgtgcgccggtctctcCcaggacaggcacaaacacgc																								rs17849781		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:7577102_7577119delCCAGGACAGGCACAAACA	ENST00000420246.2	-	8	951_968	c.819_836delTGTTTGTGCCTGTCCTGG	c.(817-837)cgg>cg	p.RVCACPG273del	TP53_ENST00000269305.4_In_Frame_Del_p.RVCACPG273del|TP53_ENST00000359597.4_In_Frame_Del_p.RVCACPG273del|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_In_Frame_Del_p.RVCACPG273del|TP53_ENST00000455263.2_In_Frame_Del_p.RVCACPG273del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(61)|p.P278S(55)|p.C275Y(53)|p.C275F(37)|p.G279E(32)|p.P278R(30)|p.P278A(24)|p.C277F(24)|p.P278T(23)|p.V274F(21)|p.V274A(19)|p.C277Y(15)|p.A276P(15)|p.P278H(13)|p.V274L(11)|p.V274D(9)|p.A276S(9)|p.G279R(9)|p.R280fs*65(8)|p.C277*(8)|p.V274G(8)|p.0?(8)|p.A276V(7)|p.C275G(7)|p.C275W(7)|p.C275R(7)|p.A276T(7)|p.A276D(6)|p.P278fs*67(5)|p.C277G(5)|p.C275fs*70(4)|p.G279V(4)|p.C275C(4)|p.C277C(4)|p.A276G(4)|p.V274I(4)|p.P278F(3)|p.V274V(3)|p.C275fs*31(2)|p.C275S(2)|p.A276fs*69(2)|p.G279W(2)|p.P278fs*28(2)|p.C277fs*29(2)|p.?(2)|p.C277W(2)|p.G279fs*65(2)|p.A276A(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274fs*71(1)|p.R273_C275delRVC(1)|p.G279_R280delGR(1)|p.R273R(1)|p.E258fs*71(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.R280fs*62(1)|p.E271_R273delEVR(1)|p.R273S(1)|p.C275*(1)|p.G279fs*59(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.A276fs*31(1)|p.C275_R283delCACPGRDRR(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.A276fs*68(1)|p.C275fs*20(1)|p.A276fs*29(1)|p.G279fs*26(1)|p.R273fs*71(1)|p.P278P(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAA	0.541		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	20	---	---	---	---					-	7577119	CCAGGACAGGCACAAACA	-	7577102	7	5	255	1	0	1	0	1	0	0	0	0	16476	623	22	0	450	0	TP53	17	7577102	In_Frame_Del	DEL	CCAGGACAGGCACAAACA	TCGA-CV-6940-01A-11D-1912-08	2489849	7577102	73618108	119	45760											
MYH8	4626	broad.mit.edu	37	chr17	10296300	10296300	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctgttccttcttcagctCctcagccatcatggcagcct	5	13	7	16	0	4	0	3	0	1	0	7	0	7	0	5	1	3	3	5	1	0	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:10296300C>A	ENST00000403437.2	-	37	5405	c.5311G>T	c.(5311-5313)Gag>Tag	p.E1771*	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1771					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCTTCAGCTCCTCAGCCATC	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				36	147					6.70999e-13	9.38622e-13	1	0	A	10296300	C	A	10296300	4	1	255	1	0	0	0	0	0	1	0	0	10111	864	30	2	518	2	MYH8	17	10296300	Nonsense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	2719198	10296300	70898910	120	45761											
KIAA0100	9703	broad.mit.edu	37	chr17	26960318	26960318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttagaggctgttctcacGttgatatccaagtcaccctt	9	13	7	12	1	2	2	2	1	1	1	4	2	3	2	2	1	0	3	2	1	3	5			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:26960318G>A	ENST00000528896.2	-	19	3641	c.3567C>T	c.(3565-3567)aaC>aaT	p.N1189N	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.N1046N|KIAA0100_ENST00000389003.3_Silent_p.N1046N	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1189						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTGTTCTCACGTTGATATCCA	0.512													26	123					0	0	0	0	A	26960318	G	A	26960318	2	1	255	1	0	0	0	0	0	0	0	1	8205	1136	40	1		1	KIAA0100	17	26960318	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08	16664018	26960318	54234892	121	45762											
GPR179	440435	broad.mit.edu	37	chr17	36482452	36482452	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggacgaagactgagactCagcttcctggagacttggct	11	9	12	9	1	1	3	1	1	0	3	2	7	2	4	1	3	1	2	1	3	2	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:36482452C>A	ENST00000342292.4	-	11	7020	c.7000G>T	c.(7000-7002)Gag>Tag	p.E2334*	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2334						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GACTGAGACTCAGCTTCCTGG	0.507													29	135					1.75199e-13	2.47942e-13	1	0	A	36482452	C	A	36482452	4	1	255	1	0	0	0	0	0	1	0	0	6723	835	29	2	107	2	GPR179	17	36482452	Nonsense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	9522134	36482452	44712758	122	45763											
DHX8	1659	broad.mit.edu	37	chr17	41584941	41584941	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtacatgacagatgggaTgttgcttagagagtgcttga	12	11	13	5	0	0	4	0	2	0	2	0	6	0	5	0	1	3	4	0	1	3	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:41584941T>C	ENST00000262415.3	+	14	2066	c.1994T>C	c.(1993-1995)aTg>aCg	p.M665T	DHX8_ENST00000540306.1_Missense_Mutation_p.M665T	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	665	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACAGATGGGATGTTGCTTAGA	0.478													13	60					0	0	0	0	C	41584941	T	C	41584941	3	2	255	1	0	0	0	0	1	0	0	0	4552	1464	51	5	2048	5	DHX8	17	41584941	Missense_Mutation	SNP	T	TCGA-CV-6940-01A-11D-1912-08	5102489	41584941	39610269	123	45764											
CHAD	1101	broad.mit.edu	37	chr17	48542772	48542772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgaggcacaggtggcatCtgggcgggaggccttggctt	6	8	19	8	1	1	1	0	1	1	0	1	2	1	2	1	8	0	3	1	8	0	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:48542772C>T	ENST00000508540.1	-	3	1119	c.967G>A	c.(967-969)Gat>Aat	p.D323N	CHAD_ENST00000258969.4_Missense_Mutation_p.D323N|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000541920.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	323	LRRCT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGGTGGCATCTGGGCGGGAG	0.617													12	52					0	0	0	0	T	48542772	C	T	48542772	3	4	255	1	0	0	0	0	1	0	0	0	3339	913	32	2	116	2	CHAD	17	48542772	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	6957831	48542772	32652438	124	45765											
ACE	1636	broad.mit.edu	37	chr17	61571742	61571742	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccactcgacaggctgaagtaCcagggcctctgccccccagt	8	6	10	17	1	1	1	0	1	1	0	2	2	1	1	6	2	2	2	6	2	2	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:61571742C>G	ENST00000577647.1	+	11	1614	c.1569C>G	c.(1567-1569)taC>taG	p.Y523*	ACE_ENST00000413513.3_Nonsense_Mutation_p.Y523*|ACE_ENST00000290863.6_Nonsense_Mutation_p.Y523*|ACE_ENST00000428043.1_Nonsense_Mutation_p.Y1097*|ACE_ENST00000290866.4_Nonsense_Mutation_p.Y1097*|ACE_ENST00000421982.2_Nonsense_Mutation_p.Y343*|ACE_ENST00000490216.2_Nonsense_Mutation_p.Y523*			P12821	ACE_HUMAN	angiotensin I converting enzyme	1097	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGCTGAAGTACCAGGGCCTCT	0.552													4	45					0	0	0	0	G	61571742	C	G	61571742	4	3	255	1	0	0	0	0	0	1	0	0	136	518	18	4	3580	4	ACE	17	61571742	Nonsense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	13028970	61571742	19623468	125	45766											
SEPT9	10801	broad.mit.edu	37	chr17	75484325	75484325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccgtggctctgtgcagataTtgaggagaaaggcgtccgga	9	9	15	8	3	1	3	0	1	1	2	3	5	3	4	2	4	1	2	2	4	2	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:75484325T>C	ENST00000329047.8	+	5	1804	c.992T>C	c.(991-993)aTt>aCt	p.I331T	SEPT9_ENST00000590294.1_Missense_Mutation_p.I331T|SEPT9_ENST00000427674.2_Missense_Mutation_p.I185T|SEPT9_ENST00000592951.1_Missense_Mutation_p.I98T|SEPT9_ENST00000427180.1_Missense_Mutation_p.I237T|SEPT9_ENST00000423034.2_Missense_Mutation_p.I342T|SEPT9_ENST00000585930.1_Missense_Mutation_p.I125T|SEPT9_ENST00000588690.1_Missense_Mutation_p.I185T|SEPT9_ENST00000427177.1_Missense_Mutation_p.I349T|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000431235.2_Missense_Mutation_p.I185T|SEPT9_ENST00000541152.2_Missense_Mutation_p.I98T|SEPT9_ENST00000591198.1_Missense_Mutation_p.I330T|SEPT9_ENST00000449803.2_Missense_Mutation_p.I185T|SEPT9_ENST00000591088.1_Missense_Mutation_p.I98T	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	349					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGTGCAGATATTGAGGAGAAA	0.612													27	42					0	0	0	0	C	75484325	T	C	75484325	3	2	255	1	0	0	0	0	1	0	0	0	14158	1493	52	5	1542	5	SEPT9	17	75484325	Missense_Mutation	SNP	T	TCGA-CV-6940-01A-11D-1912-08	13912583	75484325	5710885	126	45767											
TMC6	11322	broad.mit.edu	37	chr17	76113582	76113582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaccaggaagacaaagaagGtgttttccatcaggtaccgg	14	7	11	9	1	1	2	1	0	0	2	2	3	2	3	3	4	1	2	3	4	4	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:76113582G>A	ENST00000590602.1	-	17	2324	c.2165C>T	c.(2164-2166)aCc>aTc	p.T722I	TMC6_ENST00000322914.3_Missense_Mutation_p.T722I|TMC6_ENST00000591436.1_Missense_Mutation_p.T301I|TMC6_ENST00000322933.4_Missense_Mutation_p.T301I|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000392467.3_Missense_Mutation_p.T722I			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	722						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GACAAAGAAGGTGTTTTCCAT	0.682													4	7					0	0	0	0	A	76113582	G	A	76113582	3	1	255	1	0	0	0	0	1	0	0	0	16083	1261	44	4	268	4	TMC6	17	76113582	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	629257	76113582	5081628	127	45768											
USP36	57602	broad.mit.edu	37	chr17	76832439	76832439	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccttcaacttatccactaTtggcatggtgcatcactgtg	8	14	7	12	0	2	0	2	0	0	0	4	0	4	0	2	2	2	2	2	2	3	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:76832439T>C	ENST00000312010.6	-	3	331	c.7A>G	c.(7-9)Ata>Gta	p.I3V	USP36_ENST00000589424.1_Missense_Mutation_p.I3V|USP36_ENST00000590546.2_Missense_Mutation_p.I3V|USP36_ENST00000542802.2_Missense_Mutation_p.I3V	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	3					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTATCCACTATTGGCATGGTG	0.493													23	41					0	0	0	0	C	76832439	T	C	76832439	3	2	255	1	0	0	0	0	1	0	0	0	17163	1493	52	5	3436	5	USP36	17	76832439	Missense_Mutation	SNP	T	TCGA-CV-6940-01A-11D-1912-08	718857	76832439	4362771	128	45769											
CCDC57	284001	broad.mit.edu	37	chr17	80146213	80146213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagaaccctggtctgcagctCctgcagctgctccacgtggg	6	8	12	15	1	1	1	0	0	1	1	3	1	3	1	3	2	6	5	3	2	1	0			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:80146213C>G	ENST00000392347.1	-	7	970	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	CCDC57_ENST00000392343.3_Missense_Mutation_p.E312Q|CCDC57_ENST00000389641.4_Missense_Mutation_p.E312Q	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	312										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTCTGCAGCTCCTGCAGCTGC	0.642													5	12					0	0	0	0	G	80146213	C	G	80146213	3	3	255	1	0	0	0	0	1	0	0	0	2854	864	30	2	1857	2	CCDC57	17	80146213	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	3313774	80146213	1048997	129	45770											
CD97	976	broad.mit.edu	37	chr19	14512333	14512333	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatcctggccaagagcCtgcctaaaggccccttcacc	9	7	10	15	0	1	2	1	1	0	1	2	3	2	3	7	3	2	0	7	3	3	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:14512333C>T	ENST00000242786.5	+	10	1113	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	CD97_ENST00000358600.3_Silent_p.L252L|CD97_ENST00000357355.3_Silent_p.L296L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	345					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCCAAGAGCCTGCCTAAAGG	0.622													7	51					0	0	0	0	T	14512333	C	T	14512333	2	4	255	1	0	0	0	0	0	0	0	1	3078	680	24	4		4	CD97	19	14512333	Silent	SNP	C	TCGA-CV-6940-01A-11D-1912-08		14512333	44616650	130	45771											
CD79A	973	broad.mit.edu	37	chr19	42383229	42383229	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgagttcttgggcccGggcgaggaccccaatggtac	6	7	13	15	2	1	1	0	1	1	0	1	3	1	2	5	4	1	2	5	4	2	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:42383229G>A	ENST00000221972.3	+	2	434	c.249G>A	c.(247-249)ccG>ccA	p.P83P	CD79A_ENST00000444740.2_Silent_p.P83P	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	83	Ig-like C2-type.				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TCTTGGGCCCGGGCGAGGACC	0.602			"O, S"		DLBCL								6	100					0	0	0	0	A	42383229	G	A	42383229	2	1	255	1	0	0	0	0	0	0	0	1	3065	1103	39	1		1	CD79A	19	42383229	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08	27870896	42383229	16745754	131	45772											
LRRC4B	94030	broad.mit.edu	37	chr19	51021432	51021432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgtcgtgggccctggcGgttccttctccgtcccccgc	0	11	12	18	5	2	0	0	0	2	0	6	0	4	0	5	3	0	1	5	3	0	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:51021432G>A	ENST00000599957.1	-	3	1735	c.1538C>T	c.(1537-1539)cCg>cTg	p.P513L	LRRC4B_ENST00000389201.3_Missense_Mutation_p.P513L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	513	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGGCCCTGGCGGTTCCTTCTC	0.736													6	15					0	0	0	0	A	51021432	G	A	51021432	3	1	255	1	0	0	0	0	1	0	0	0	9071	1116	39	1	607	1	LRRC4B	19	51021432	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	8638203	51021432	8107551	132	45773											
PEG3	5178	broad.mit.edu	37	chr19	57335633	57335633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgtggagactctcaccttCtggttggtacatctccttgt	5	14	9	13	1	3	1	1	0	3	1	5	2	3	1	3	3	1	2	3	3	1	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:57335633C>T	ENST00000326441.9	-	4	754	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	PEG3_ENST00000593695.1_Missense_Mutation_p.E5K|ZIM2_ENST00000593711.1_Missense_Mutation_p.E5K|ZIM2_ENST00000599935.1_Missense_Mutation_p.E5K|PEG3_ENST00000423103.2_Missense_Mutation_p.E131K|PEG3_ENST00000598410.1_Missense_Mutation_p.E5K|ZIM2_ENST00000601070.1_Missense_Mutation_p.E5K|ZIM2_ENST00000391708.3_Missense_Mutation_p.E5K|ZIM2_ENST00000221722.5_Missense_Mutation_p.E5K|ZIM2_ENST00000593931.1_Missense_Mutation_p.E5K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	131					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCTCACCTTCTGGTTGGTAC	0.547													14	102					0	0	0	0	T	57335633	C	T	57335633	3	4	255	1	0	0	0	0	1	0	0	0	11791	922	32	2		2	PEG3	19	57335633	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	6314201	57335633	1793350	133	45774											
DEFB127	140850	broad.mit.edu	37	chr20	139650	139650	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaatttcccaagcctgaaGacacagtctacataaatcaa	18	8	5	10	0	2	2	1	1	1	1	3	3	3	2	2	0	2	0	2	0	8	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:139650G>A	ENST00000382388.3	+	2	360	c.285G>A	c.(283-285)aaG>aaA	p.K95K		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	95					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CAAGCCTGAAGACACAGTCTA	0.353													8	30					0	0	0	0	A	139650	G	A	139650	2	1	255	1	0	0	0	0	0	0	0	1	4449	933	33	2		2	DEFB127	20	139650	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08		139650	62885870	134	45775											
GFRA4	64096	broad.mit.edu	37	chr20	3644019	3644019	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccagtaacagcagcagcaGcagcgcaggccccaggcagc	12	1	12	16	1	0	0	0	0	0	0	0	0	0	0	3	2	7	7	3	2	1	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:3644019G>A	ENST00000290417.2	-	1	27	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	GFRA4_ENST00000319242.3_Silent_p.L10L	NM_022139.3|NM_145762.2	NP_071422.1|NP_665705.1	Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	10						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						AGCAGCAGCAGCAGCGCAGGC	0.637													9	12					0	0	0	0	A	3644019	G	A	3644019	2	1	255	1	0	0	0	0	0	0	0	1	6401	962	34	4		4	GFRA4	20	3644019	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08	3504369	3644019	59381501	135	45776											
GDF5	8200	broad.mit.edu	37	chr20	34025402	34025402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcttgggttcagggcCgcccggtctggggggcagct	2	9	18	12	2	2	0	1	0	1	0	3	0	3	0	3	7	1	4	3	7	0	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:34025402C>T	ENST00000374372.1	-	3	810	c.307G>A	c.(307-309)Ggc>Agc	p.G103S	GDF5_ENST00000374369.3_Missense_Mutation_p.G103S			P43026	GDF5_HUMAN	growth differentiation factor 5	103					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGTTCAGGGCCGCCCGGTCTG	0.632													29	46					0	0	0	0	T	34025402	C	T	34025402	3	4	255	1	0	0	0	0	1	0	0	0	6367	652	23	1	1206	1	GDF5	20	34025402	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	30381383	34025402	29000118	136	45777											
ZNFX1	57169	broad.mit.edu	37	chr20	47870298	47870298	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcagcttcttccactaTgacaatcctcggctccacct	7	12	5	17	2	1	1	0	1	1	0	6	1	5	1	5	1	1	3	5	1	2	4			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:47870298T>A	ENST00000396105.1	-	11	3256	c.3010A>T	c.(3010-3012)Ata>Tta	p.I1004L	ZNFX1_ENST00000371752.1_Missense_Mutation_p.I1004L|ZNFX1_ENST00000371754.4_Missense_Mutation_p.I1004L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1004							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTTCCACTATGACAATCCTC	0.527													109	213					0	0	0	0	A	47870298	T	A	47870298	3	1	255	1	0	0	0	0	1	0	0	0	18298	1464	51	5	2762	5	ZNFX1	20	47870298	Missense_Mutation	SNP	T	TCGA-CV-6940-01A-11D-1912-08	13844896	47870298	15155222	137	45778											
RBM38	55544	broad.mit.edu	37	chr20	55982844	55982844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcagccgcagcacccgCgggcaccactttcgtgcagt	6	7	10	18	4	1	0	1	0	1	0	3	0	1	0	4	1	3	4	4	1	0	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:55982844C>T	ENST00000356208.5	+	4	837	c.662C>T	c.(661-663)gCg>gTg	p.A221V	RBM38_ENST00000371219.2_Missense_Mutation_p.A140V	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	221					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			GCAGCACCCGCGGGCACCACT	0.682													3	10					0	0	0	0	T	55982844	C	T	55982844	3	4	255	1	0	0	0	0	1	0	0	0	13214	768	27	1	435	1	RBM38	20	55982844	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	8112546	55982844	7042676	138	45779											
C2CD2	25966	broad.mit.edu	37	chr21	43338269	43338269	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaccactgatggagaggcaGaaccagccaaatgcttcaag	15	5	11	10	0	1	3	1	1	0	2	1	5	1	3	3	2	4	2	3	2	4	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr21:43338269G>C	ENST00000380486.3	-	5	906	c.665C>G	c.(664-666)tCt>tGt	p.S222C	C2CD2_ENST00000329623.7_Missense_Mutation_p.S67C	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	222						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGGAGAGGCAGAACCAGCCAA	0.512													31	46					0	0	0	0	C	43338269	G	C	43338269	3	2	255	1	0	0	0	0	1	0	0	0	2172	942	33	2	1465	2	C2CD2	21	43338269	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08		43338269	4791626	139	45780											
C21orf58	54058	broad.mit.edu	37	chr21	47737162	47737162	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggtcccccttccacgttCtgccgttcttgctccagctt	3	14	7	17	2	3	0	1	0	2	0	6	0	6	0	5	1	3	4	5	1	0	5			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr21:47737162C>G	ENST00000291691.7	-	3	1466	c.330G>C	c.(328-330)caG>caC	p.Q110H	C21orf58_ENST00000397679.1_5'UTR|C21orf58_ENST00000397680.1_5'UTR|C21orf58_ENST00000397683.1_5'UTR|C21orf58_ENST00000397685.4_Missense_Mutation_p.Q27H|C21orf58_ENST00000397682.3_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	110										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		CTTCCACGTTCTGCCGTTCTT	0.602													6	12					0	0	0	0	G	47737162	C	G	47737162	3	3	255	1	0	0	0	0	1	0	0	0	2149	912	32	2	662	2	C21orf58	21	47737162	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	4398893	47737162	392733	140	45781											
PEX26	55670	broad.mit.edu	37	chr22	18570779	18570779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctctacaagctggcccagCtcttccgctggatccggaag	7	9	10	15	2	2	0	0	0	2	0	5	2	5	2	4	3	3	3	4	3	3	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:18570779C>T	ENST00000329627.6	+	6	1062	c.856C>T	c.(856-858)Ctc>Ttc	p.L286F	PEX26_ENST00000428061.2_Missense_Mutation_p.L237F|PEX26_ENST00000399744.3_Missense_Mutation_p.L286F	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	286					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GCTGGCCCAGCTCTTCCGCTG	0.617													98	192					0	0	0	0	T	18570779	C	T	18570779	3	4	255	1	0	0	0	0	1	0	0	0	11818	797	28	4	874	4	PEX26	22	18570779	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08		18570779	32733787	141	45782											
GSTT1	2952	broad.mit.edu	37	chr22	24379500	24379500	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgcgcgtcaggtagagcAggatggccacactgtgggtg	8	9	16	8	2	1	1	1	0	0	1	1	2	1	2	1	4	2	2	1	4	1	2			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:24379500A>G	ENST00000248935.5	-	3	264	c.212T>C	c.(211-213)cTg>cCg	p.L71P	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	71	GST N-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	CAGGTAGAGCAGGATGGCCAC	0.537									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				16	72					0	0	0	0	G	24379500	A	G	24379500	3	3	255	1	0	0	0	0	1	0	0	0	6895	188	7	5	522	5	GSTT1	22	24379500	Missense_Mutation	SNP	A	TCGA-CV-6940-01A-11D-1912-08	5808721	24379500	26925066	142	45783											
APOL1	8542	broad.mit.edu	37	chr22	36657700	36657700	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaaaaagtgagcacacaGaatctgctactcctgctgac	15	7	9	10	0	1	3	0	2	1	1	2	4	2	4	1	1	4	3	1	1	5	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:36657700G>A	ENST00000319136.4	+	6	561	c.294G>A	c.(292-294)caG>caA	p.Q98Q	APOL1_ENST00000426053.1_Silent_p.Q64Q|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000347595.7_5'UTR|APOL1_ENST00000422706.1_Silent_p.Q82Q|APOL1_ENST00000397278.3_Silent_p.Q82Q|APOL1_ENST00000397279.4_Silent_p.Q82Q	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	82					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TGAGCACACAGAATCTGCTAC	0.473													18	58					0	0	0	0	A	36657700	G	A	36657700	2	1	255	1	0	0	0	0	0	0	0	1	807	933	33	2		2	APOL1	22	36657700	Silent	SNP	G	TCGA-CV-6940-01A-11D-1912-08	12278200	36657700	14646866	143	45784											
NAGA	4668	broad.mit.edu	37	chr22	42463795	42463795	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccaggaaaggaatgccatGagggaagcgcttgggatccg	12	5	16	8	2	0	1	0	1	0	0	1	5	1	5	3	4	3	1	3	4	3	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:42463795G>C	ENST00000396398.3	-	3	830	c.298C>G	c.(298-300)Cat>Gat	p.H100D	NAGA_ENST00000402937.1_Missense_Mutation_p.H100D|NAGA_ENST00000403363.1_Missense_Mutation_p.H100D	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	100					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGAATGCCATGAGGGAAGCGC	0.607													17	99					0	0	0	0	C	42463795	G	C	42463795	3	2	255	1	0	0	0	0	1	0	0	0	10211	1290	45	2	965	2	NAGA	22	42463795	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	5806095	42463795	8840771	144	45785											
FAM19A5	25817	broad.mit.edu	37	chr22	49042418	49042418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctctgcaggtcagctggCcgccggcacctgtgagattg	5	9	13	14	2	2	1	1	1	1	1	3	2	2	1	4	3	2	3	4	3	0	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:49042418C>T	ENST00000358295.5	+	2	276	c.101C>T	c.(100-102)gCc>gTc	p.A34V	FAM19A5_ENST00000402357.1_Missense_Mutation_p.A41V|FAM19A5_ENST00000473898.1_Intron	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	41						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GGTCAGCTGGCCGCCGGCACC	0.677													21	47					0	0	0	0	T	49042418	C	T	49042418	3	4	255	1	0	0	0	0	1	0	0	0	5578	739	26	4	223	4	FAM19A5	22	49042418	Missense_Mutation	SNP	C	TCGA-CV-6940-01A-11D-1912-08	6578623	49042418	2262148	145	45786											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011444	105011444	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaatgcaaatcaggcactgTtgcagaggttataaacatga	15	10	9	7	0	2	2	2	1	0	1	2	2	2	2	0	2	3	5	0	2	5	3			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chrX:105011444T>C	ENST00000372582.1	+	11	2607	c.1851T>C	c.(1849-1851)tgT>tgC	p.C617C	IL1RAPL2_ENST00000538500.1_Silent_p.C222C|IL1RAPL2_ENST00000344799.4_Silent_p.C617C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	617					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCAGGCACTGTTGCAGAGGTT	0.483													14	121					0	0	0	0	C	105011444	T	C	105011444	2	2	255	1	0	0	0	0	0	0	0	1	7715	1731	60	5		5	IL1RAPL2	23	105011444	Silent	SNP	T	TCGA-CV-6940-01A-11D-1912-08		105011444	50259116	146	45787											
PLXNA3	55558	broad.mit.edu	37	chrX	153694349	153694349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacaacctgggcctcttGtcccgagaggtgggcctgcg	5	8	16	12	2	1	2	0	1	1	1	2	3	2	2	4	4	2	0	4	4	1	1			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chrX:153694349G>T	ENST00000369682.3	+	14	2779	c.2604G>T	c.(2602-2604)ttG>ttT	p.L868F		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	868	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGCCTCTTGTCCCGAGAGG	0.652													39	15					2.24893e-16	3.23953e-16	1	0	T	153694349	G	T	153694349	3	4	255	1	0	0	0	0	1	0	0	0	12193	1368	48	4	2654	4	PLXNA3	23	153694349	Missense_Mutation	SNP	G	TCGA-CV-6940-01A-11D-1912-08	48682905	153694349	1576211	147	45788											
KLHL17	339451	broad.mit.edu	37	chr1	899313	899313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccacagtgctgaacgctacGaccccctgaccggaacgtgg	9	5	11	16	4	0	2	0	2	0	0	0	4	0	3	4	2	4	2	4	2	3	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:899313G>A	ENST00000338591.3	+	9	1476	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	457	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGAACGCTACGACCCCCTGAC	0.687													32	113					0	0	0	0	A	899313	G	A	899313	3	1	256	1	0	0	0	0	1	0	0	0	8424	1058	37	1	1403	1	KLHL17	1	899313	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08		899313	248351308	1	45789											
CDK11B	984	broad.mit.edu	37	chr1	1573159	1573159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgggatgctgggccttgaGgatggtgttgatctccctca	5	13	15	8	0	2	2	1	2	1	0	3	4	2	4	2	4	1	3	2	4	0	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:1573159G>A	ENST00000407249.3	-	14	1437	c.1438C>T	c.(1438-1440)Ctc>Ttc	p.L480F	CDK11B_ENST00000341832.6_Missense_Mutation_p.L433F|CDK11B_ENST00000340677.5_Missense_Mutation_p.L467F|CDK11B_ENST00000317673.7_Missense_Mutation_p.L478F			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	490	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TGGGCCTTGAGGATGGTGTTG	0.567													39	195					0	0	0	0	A	1573159	G	A	1573159	3	1	256	1	0	0	0	0	1	0	0	0	3156	1000	35	4	951	4	CDK11B	1	1573159	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	673846	1573159	247677462	2	45790											
RPL22	6146	broad.mit.edu	37	chr1	6253065	6253065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtcaccacccctccaccaAggttcccagcttttccgttc	6	11	6	18	1	1	0	1	0	0	0	5	0	4	0	7	2	1	3	7	2	1	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:6253065A>G	ENST00000234875.4	-	3	205	c.167T>C	c.(166-168)cTt>cCt	p.L56P	RPL22_ENST00000497965.1_Missense_Mutation_p.L23P|RPL22_ENST00000484532.1_Missense_Mutation_p.L23P	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	56					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCCTCCACCAAGGTTCCCAGC	0.468			T	RUNX1	"AML, CML"								9	61					0	0	0	0	G	6253065	A	G	6253065	3	3	256	1	0	0	0	0	1	0	0	0	13653	72	3	5	227	5	RPL22	1	6253065	Missense_Mutation	SNP	A	TCGA-CV-6941-01A-11D-1912-08	4679906	6253065	242997556	3	45791											
KDM1A	23028	broad.mit.edu	37	chr1	23385657	23385657	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttatgaagccaacggacaAgctgtaagtcgaggacaaac	15	7	10	9	2	0	1	0	1	0	0	1	4	0	3	1	2	4	2	1	2	6	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:23385657A>G	ENST00000400181.4	+	9	1268	c.1164A>G	c.(1162-1164)caA>caG	p.Q388Q	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Silent_p.Q388Q|KDM1A_ENST00000356634.3_Silent_p.Q368Q	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	368	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCAACGGACAAGCTGTAAGTC	0.383													3	14					0	0	0	0	G	23385657	A	G	23385657	2	3	256	1	0	0	0	0	0	0	0	1	8175	69	3	5		5	KDM1A	1	23385657	Silent	SNP	A	TCGA-CV-6941-01A-11D-1912-08	17132592	23385657	225864964	4	45792											
CLIC4	25932	broad.mit.edu	37	chr1	25153564	25153564	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaatggacatctttgccaaAttctctgcatatatcaagaa	14	12	7	8	0	3	1	1	0	2	1	4	3	3	3	1	2	2	1	1	2	6	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:25153564A>C	ENST00000374379.4	+	4	569	c.372A>C	c.(370-372)aaA>aaC	p.K124N	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	124	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		TCTTTGCCAAATTCTCTGCAT	0.348													30	120					0	0	0	0	C	25153564	A	C	25153564	3	2	256	1	0	0	0	0	1	0	0	0	3558	98	4	5	386	5	CLIC4	1	25153564	Missense_Mutation	SNP	A	TCGA-CV-6941-01A-11D-1912-08	1767907	25153564	224097057	5	45793											
ELAVL4	1996	broad.mit.edu	37	chr1	50666796	50666796	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctcaacgggtaccgcctGggagacagagtgttgcaagt	10	7	14	10	2	1	2	1	0	0	2	1	3	1	2	3	2	4	3	3	2	3	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:50666796G>T	ENST00000371824.1	+	7	1304	c.1047G>T	c.(1045-1047)ctG>ctT	p.L349L	ELAVL4_ENST00000371821.1_Silent_p.L368L|ELAVL4_ENST00000371819.1_Silent_p.L354L|ELAVL4_ENST00000371823.4_Silent_p.L363L|ELAVL4_ENST00000357083.4_Silent_p.L366L|ELAVL4_ENST00000448907.2_Silent_p.L352L|ELAVL4_ENST00000371827.1_Silent_p.L349L			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	363	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGTACCGCCTGGGAGACAGAG	0.448													15	30					1.15088e-07	3.34966e-07	1	0	T	50666796	G	T	50666796	2	4	256	1	0	0	0	0	0	0	0	1	5090	1335	47	4		4	ELAVL4	1	50666796	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08	25513232	50666796	198583825	6	45794											
DEPDC1	55635	broad.mit.edu	37	chr1	68947901	68947901	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtttcatgataatttcAgccactggtgtattgatata	10	18	8	5	0	2	2	2	2	0	0	2	2	2	2	1	2	1	2	1	2	4	8			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:68947901A>C	ENST00000456315.2	-	8	1704	c.1590T>G	c.(1588-1590)gcT>gcG	p.A530A	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	530					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TGATAATTTCAGCCACTGGTG	0.388													44	152					0	0	0	0	C	68947901	A	C	68947901	2	2	256	1	0	0	0	0	0	0	0	1	4476	175	7	5		5	DEPDC1	1	68947901	Silent	SNP	A	TCGA-CV-6941-01A-11D-1912-08	18281105	68947901	180302720	7	45795											
SLC44A5	204962	broad.mit.edu	37	chr1	75688097	75688097	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggattcgattcctgaggAagatcagcatgaggatgaca	12	9	12	8	2	1	4	1	3	0	1	4	8	2	7	1	3	1	1	1	3	1	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:75688097A>C	ENST00000370855.5	-	14	1147	c.1034T>G	c.(1033-1035)tTc>tGc	p.F345C	SLC44A5_ENST00000370859.3_Missense_Mutation_p.F345C|SLC44A5_ENST00000535611.1_Missense_Mutation_p.F215C	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	345						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATTCCTGAGGAAGATCAGCAT	0.388													30	30					0	0	0	0	C	75688097	A	C	75688097	3	2	256	1	0	0	0	0	1	0	0	0	14727	246	9	5	1280	5	SLC44A5	1	75688097	Missense_Mutation	SNP	A	TCGA-CV-6941-01A-11D-1912-08	6740196	75688097	173562524	8	45796											
COL11A1	1301	broad.mit.edu	37	chr1	103345449	103345449	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccatattgatggaattTccttcaacatctaagtatga	13	14	6	8	0	2	2	1	2	1	0	3	3	3	3	2	1	2	2	2	1	5	6			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:103345449T>C	ENST00000358392.2	-	66	5417	c.5100A>G	c.(5098-5100)ggA>ggG	p.G1700G	COL11A1_ENST00000353414.4_Silent_p.G1649G|COL11A1_ENST00000370096.3_Silent_p.G1688G|COL11A1_ENST00000512756.1_Silent_p.G1572G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1688	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGATGGAATTTCCTTCAACAT	0.388													10	17					0	0	0	0	C	103345449	T	C	103345449	2	2	256	1	0	0	0	0	0	0	0	1	3697	1770	62	5		5	COL11A1	1	103345449	Silent	SNP	T	TCGA-CV-6941-01A-11D-1912-08	27657352	103345449	145905172	9	45797											
SH2D1B	117157	broad.mit.edu	37	chr1	162368816	162368816	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcccctgatttggttttTcaaatttggagatcagttcc	8	16	7	10	0	2	2	2	1	0	1	4	3	4	2	4	2	0	2	4	2	1	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:162368816T>C	ENST00000367929.2	-	3	369	c.260A>G	c.(259-261)gAa>gGa	p.E87G	SH2D1B_ENST00000359567.3_Intron	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	87	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ATTTGGTTTTTCAAATTTGGA	0.398													6	64					0	0	0	0	C	162368816	T	C	162368816	3	2	256	1	0	0	0	0	1	0	0	0	14318	1783	62	5	146	5	SH2D1B	1	162368816	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08	59023367	162368816	86881805	10	45798											
ILDR2	387597	broad.mit.edu	37	chr1	166927307	166927307	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggccaccttcttcttgtcGggcactgtgacctgaaggcc	6	11	11	13	1	2	2	0	2	2	0	3	2	2	2	4	3	0	1	4	3	1	3	rs143548938		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:166927307G>A	ENST00000271417.3	-	2	133	c.78C>T	c.(76-78)ccC>ccT	p.P26P	ILDR2_ENST00000469934.2_Silent_p.P26P|ILDR2_ENST00000525740.1_Silent_p.P26P|ILDR2_ENST00000529387.1_Silent_p.P26P|ILDR2_ENST00000526687.1_Silent_p.P26P|ILDR2_ENST00000528703.1_Silent_p.P26P|ILDR2_ENST00000529071.1_Silent_p.P26P	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	26	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TCTTCTTGTCGGGCACTGTGA	0.522													9	120					0	0	0	0	A	166927307	G	A	166927307	2	1	256	1	0	0	0	0	0	0	0	1	7763	1103	39	1		1	ILDR2	1	166927307	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08	4558491	166927307	82323314	11	45799											
TNN	63923	broad.mit.edu	37	chr1	175067683	175067683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggtgcacgtgtgggccCagaagggggaccaggagagc	10	4	18	9	1	0	2	0	0	0	2	0	4	0	3	2	5	2	1	2	5	1	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:175067683C>A	ENST00000239462.4	+	9	2184	c.2071C>A	c.(2071-2073)Cag>Aag	p.Q691K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	691	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGTGTGGGCCCAGAAGGGGGA	0.602													35	33					7.11191e-15	2.13744e-14	1	0	A	175067683	C	A	175067683	3	1	256	1	0	0	0	0	1	0	0	0	16417	595	21	4	2101	4	TNN	1	175067683	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	8140376	175067683	74182938	12	45800											
QSOX1	5768	broad.mit.edu	37	chr1	180135628	180135628	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttttgtcctttcagccTggaggccggccctgtatctc	3	15	11	12	1	2	0	1	0	1	0	4	1	3	1	4	4	1	2	4	4	1	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:180135628T>C	ENST00000367602.3	+	2	342	c.268T>C	c.(268-270)Tgg>Cgg	p.W90R	QSOX1_ENST00000367600.5_Missense_Mutation_p.W90R			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	90	Thioredoxin.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTTTCAGCCTGGAGGCCGGC	0.592													3	70					0	0	0	0	C	180135628	T	C	180135628	3	2	256	1	0	0	0	0	1	0	0	0	12965	1580	55	5	274	5	QSOX1	1	180135628	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08	5067945	180135628	69114993	13	45801											
RGS1	5996	broad.mit.edu	37	chr1	192548327	192548327	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattaaagcaccaacccccAcgtgttttgatgaagcacaa	15	8	7	11	1	0	3	0	2	0	1	0	3	0	3	3	0	3	3	3	0	5	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:192548327A>C	ENST00000367459.3	+	5	571	c.505A>C	c.(505-507)Acg>Ccg	p.T169P		NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	169	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				ACCAACCCCCACGTGTTTTGA	0.338													42	23					0	0	0	0	C	192548327	A	C	192548327	3	2	256	1	0	0	0	0	1	0	0	0	13375	159	6	5	523	5	RGS1	1	192548327	Missense_Mutation	SNP	A	TCGA-CV-6941-01A-11D-1912-08	12412699	192548327	56702294	14	45802											
TIMM17A	10440	broad.mit.edu	37	chr1	201938617	201938617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctcagtttgcagaagacCcctcccagttgccttcaact	8	11	7	15	0	2	2	2	0	0	2	4	2	4	2	5	0	3	3	5	0	2	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:201938617C>T	ENST00000367287.4	+	6	487	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TIMM17A_ENST00000482943.1_3'UTR	NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	151					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|lung(3)|stomach(1)	5						TGCAGAAGACCCCTCCCAGTT	0.363													51	42					0	0	0	0	T	201938617	C	T	201938617	3	4	256	1	0	0	0	0	1	0	0	0	16002	623	22	4	473	4	TIMM17A	1	201938617	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	9390290	201938617	47312004	15	45803											
PROX1	5629	broad.mit.edu	37	chr1	214184888	214184888	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagatgcattacctctcagCtcatcaagtggtttagcaat	12	12	7	10	0	3	1	3	0	1	1	4	1	3	1	1	1	4	4	1	1	4	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:214184888C>G	ENST00000366958.4	+	4	2466	c.1858C>G	c.(1858-1860)Ctc>Gtc	p.L620V	PROX1_ENST00000435016.1_Missense_Mutation_p.L620V|PROX1_ENST00000261454.4_Missense_Mutation_p.L620V|PROX1_ENST00000498508.2_Missense_Mutation_p.L620V	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	620					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TACCTCTCAGCTCATCAAGTG	0.373													3	74					0	0	0	0	G	214184888	C	G	214184888	3	3	256	1	0	0	0	0	1	0	0	0	12640	797	28	4	1868	4	PROX1	1	214184888	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	12246271	214184888	35065733	16	45804											
OR2AK2	391191	broad.mit.edu	37	chr1	248129000	248129000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtatgtgttcttggcccttGgtggaactgaagcccttctc	5	14	11	11	1	2	1	0	1	2	0	3	2	2	2	2	3	2	2	2	3	3	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:248129000G>T	ENST00000366480.3	+	1	466	c.367G>T	c.(367-369)Ggt>Tgt	p.G123C	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTTGGCCCTTGGTGGAACTGA	0.448													15	218					1.02788e-11	3.03968e-11	1	0	T	248129000	G	T	248129000	3	4	256	1	0	0	0	0	1	0	0	0	11057	1348	47	4	369	4	OR2AK2	1	248129000	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	33944112	248129000	1121621	17	45805											
OR2G6	391211	broad.mit.edu	37	chr1	248685814	248685814	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttttaaaccccattatCtacactctgagaaacaaaga	16	10	3	12	0	2	2	0	1	2	2	2	3	2	2	3	0	3	0	3	0	6	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:248685814C>A	ENST00000343414.4	+	1	899	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCCCATTATCTACACTCTGA	0.443													9	60					3.86212e-05	0.000108414	1	0	A	248685814	C	A	248685814	2	1	256	1	0	0	0	0	0	0	0	1	11071	903	32	2		2	OR2G6	1	248685814	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08	556814	248685814	564807	18	45806											
MYCN	4613	broad.mit.edu	37	chr2	16085953	16085953	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcccccgaaactctgacTcggaggacagtgagcgtcgc	9	6	13	13	4	1	3	0	3	1	0	3	6	1	5	2	2	3	0	2	2	1	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:16085953T>A	ENST00000281043.3	+	3	1426	c.1129T>A	c.(1129-1131)Tcg>Acg	p.S377T		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	377					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AAACTCTGACTCGGAGGACAG	0.607			A		neuroblastoma								34	31					0	0	0	0	A	16085953	T	A	16085953	3	1	256	1	0	0	0	0	1	0	0	0	10091	1551	54	5	1135	5	MYCN	2	16085953	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08		16085953	227113420	19	45807											
NT5C1B	93034	broad.mit.edu	37	chr2	18766048	18766048	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgggcccaggcctccggaTtctcttgcattttggtgctg	3	14	12	12	1	1	0	0	0	1	0	3	1	2	1	3	4	2	2	3	4	0	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:18766048T>C	ENST00000304081.4	-	4	555	c.455A>G	c.(454-456)aAt>aGt	p.N152S	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.N212S|NT5C1B_ENST00000600945.1_Missense_Mutation_p.N212S|NT5C1B_ENST00000359846.2_Missense_Mutation_p.N212S	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GGCCTCCGGATTCTCTTGCAT	0.701													13	30					0	0	0	0	C	18766048	T	C	18766048	3	2	256	1	0	0	0	0	1	0	0	0	10757	1493	52	5	1221	5	NT5C1B	2	18766048	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08	2680095	18766048	224433325	20	45808											
C2orf61	285051	broad.mit.edu	37	chr2	47382368	47382368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccttattgaggtggaagcgGtggcgacggctggctggtcc	5	9	17	10	3	0	1	0	1	0	0	1	3	1	2	2	7	1	2	2	7	2	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:47382368G>A	ENST00000294947.2	-	1	58	c.23C>T	c.(22-24)aCc>aTc	p.T8I	CALM2_ENST00000422269.1_Intron|C2orf61_ENST00000445927.2_Missense_Mutation_p.T8I	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	8								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GGTGGAAGCGGTGGCGACGGC	0.642													21	28					0	0	0	0	A	47382368	G	A	47382368	3	1	256	1	0	0	0	0	1	0	0	0	2200	1261	44	4	766	4	C2orf61	2	47382368	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	28616320	47382368	195817005	21	45809											
OTX1	5013	broad.mit.edu	37	chr2	63283436	63283436	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaggaccaagcctcatggcgGttccaggtcttgtgagccca	9	8	12	12	1	2	1	1	1	1	0	3	2	3	2	4	4	2	1	4	4	2	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:63283436G>T	ENST00000366671.3	+	5	1326	c.1050G>T	c.(1048-1050)cgG>cgT	p.R350R	OTX1_ENST00000282549.2_Silent_p.R350R	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	350						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCTCATGGCGGTTCCAGGTCT	0.592													6	34					2.0095e-06	5.7281e-06	1	0	T	63283436	G	T	63283436	2	4	256	1	0	0	0	0	0	0	0	1	11391	1248	44	4		4	OTX1	2	63283436	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08	15901068	63283436	179915937	22	45810											
SAP130	79595	broad.mit.edu	37	chr2	128712714	128712714	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggtggagtgatggggacCgctccaggaatggttgaaag	10	8	18	5	1	0	2	0	2	0	0	1	5	1	5	2	6	0	2	2	6	2	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:128712714C>T	ENST00000357702.5	-	16	2477	c.2346G>A	c.(2344-2346)gcG>gcA	p.A782A	SAP130_ENST00000259235.3_Silent_p.A747A|SAP130_ENST00000259234.6_Silent_p.A755A	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	747	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.A747A(1)|p.A782A(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGATGGGGACCGCTCCAGGAA	0.607													13	75					0	0	0	0	T	128712714	C	T	128712714	2	4	256	1	0	0	0	0	0	0	0	1	13916	639	23	1		1	SAP130	2	128712714	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08	65429278	128712714	114486659	23	45811											
LRP1B	53353	broad.mit.edu	37	chr2	141294272	141294272	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataagcgttgcaggaggaaTttttagctgcaagaaaaaaa	18	9	10	4	1	0	1	0	0	0	1	0	3	0	3	0	2	4	4	0	2	8	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:141294272T>A	ENST00000389484.3	-	46	8491	c.7520A>T	c.(7519-7521)aAt>aTt	p.N2507I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2507					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAGGAGGAATTTTTAGCTGC	0.328										TSP Lung(27;0.18)			11	19					0	0	0	0	A	141294272	T	A	141294272	3	1	256	1	0	0	0	0	1	0	0	0	9019	1493	52	5	6463	5	LRP1B	2	141294272	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08	12581558	141294272	101905101	24	45812											
NOSTRIN	115677	broad.mit.edu	37	chr2	169690790	169690790	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaagcacttttccagctTgtagaaagctccaagcaatc	13	10	7	11	0	0	2	0	1	0	1	3	2	2	2	2	0	4	5	2	0	5	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:169690790T>C	ENST00000444448.2	+	9	935	c.459T>C	c.(457-459)ctT>ctC	p.L153L	NOSTRIN_ENST00000421711.2_Silent_p.L125L|NOSTRIN_ENST00000458381.2_Silent_p.L153L|NOSTRIN_ENST00000445023.2_Silent_p.L75L|NOSTRIN_ENST00000397209.2_Silent_p.L125L|NOSTRIN_ENST00000317647.7_Silent_p.L153L|NOSTRIN_ENST00000397206.2_Silent_p.L75L			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	153					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TTTTCCAGCTTGTAGAAAGCT	0.443													9	28					0	0	0	0	C	169690790	T	C	169690790	2	2	256	1	0	0	0	0	0	0	0	1	10616	1799	63	5		5	NOSTRIN	2	169690790	Silent	SNP	T	TCGA-CV-6941-01A-11D-1912-08	28396518	169690790	73508583	25	45813											
TTN	7273	broad.mit.edu	37	chr2	179612845	179612845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaaatgtgagatggaaCttctgcctccattttctaga	10	16	7	8	0	3	2	1	1	2	2	4	4	4	3	2	1	2	0	2	1	3	6			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:179612845C>A	ENST00000360870.5	-	46	14504	c.14282G>T	c.(14281-14283)aGt>aTt	p.S4761I	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	873	Ig-like 28.						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)			TGAGATGGAACTTCTGCCTCC	0.408													24	35					2.32416e-17	7.06186e-17	1	0	A	179612845	C	A	179612845	3	1	256	1	0	0	0	0	1	0	0	0	16831	565	20	4	96015	4	TTN	2	179612845	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	9922055	179612845	63586528	26	45814											
TNS1	7145	broad.mit.edu	37	chr2	218674659	218674659	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggctttagagatggcCtgtggcccagtgagtgactc	7	11	15	8	0	0	3	0	2	0	1	1	5	0	3	2	3	0	1	2	3	1	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:218674659C>T	ENST00000171887.4	-	30	5300	c.4848G>A	c.(4846-4848)caG>caA	p.Q1616Q	TNS1_ENST00000430930.1_Silent_p.Q1595Q|TNS1_ENST00000419504.1_Silent_p.Q1602Q	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1616						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TAGAGATGGCCTGTGGCCCAG	0.572													15	14					0	0	0	0	T	218674659	C	T	218674659	2	4	256	1	0	0	0	0	0	0	0	1	16437	680	24	4		4	TNS1	2	218674659	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08	39061814	218674659	24524714	27	45815											
GRIP2	80852	broad.mit.edu	37	chr3	14552798	14552798	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatggccagtagcttgtcgCctggctccagggtgcccgtc	5	9	13	14	2	0	0	0	0	0	0	3	0	1	0	4	3	2	3	4	3	2	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:14552798C>T	ENST00000273083.3	-	0	1872							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TAGCTTGTCGCCTGGCTCCAG	0.617													21	21					0	0	0	0	T	14552798	C	T	14552798	1	4	256	0	1	0	0	0	0	0	0	0	6838	739	26	4		4	GRIP2	3	14552798	RNA	SNP	C	TCGA-CV-6941-01A-11D-1912-08		14552798	183469632	28	45816											
KLHDC8B	200942	broad.mit.edu	37	chr3	49213226	49213226	+	Frame_Shift_Del	DEL	G	G	-																															aggcactgtgtctgcgtgatGgggtctgaaggcttggtggg																										TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:49213226delG	ENST00000332780.2	+	6	1266	c.1057delG	c.(1057-1059)ggfs	p.G353fs		NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	353						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGCGTGATGGGGTCTGAAG	0.602													27	27	---	---	---	---					-	49213226	G	-	49213226	7	5	256	1	0	1	0	1	0	0	0	0	8415	1348	47	0	1075	0	KLHDC8B	3	49213226	Frame_Shift_Del	DEL	G	TCGA-CV-6941-01A-11D-1912-08	34660428	49213226	148809204	29	45817											
USP4	7375	broad.mit.edu	37	chr3	49329942	49329942	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagcatggtgcatactcaCcttcacagctgttcctggag	9	10	10	12	0	2	1	2	0	0	1	3	2	3	2	2	2	4	4	2	2	1	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:49329942C>G	ENST00000351842.4	-	14	1840		c.e14+1		USP4_ENST00000265560.4_Splice_Site	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)						negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGCATACTCACCTTCACAGCT	0.512													5	3					0	0	0	0	G	49329942	C	G	49329942	5	3	256	1	0	0	0	0	0	0	1	0	17167	521	18	4	950	4	USP4	3	49329942	Splice_Site	SNP	C	TCGA-CV-6941-01A-11D-1912-08	116716	49329942	148692488	30	45818											
CACNA1D	776	broad.mit.edu	37	chr3	53804530	53804530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attggtgaagcttctcagcaGgggggaaggcatccggacat	10	8	15	8	1	1	1	1	1	1	0	3	3	2	3	1	6	2	3	1	6	2	2	rs148194645		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:53804530G>A	ENST00000288139.3	+	33	4173	c.4055G>A	c.(4054-4056)aGg>aAg	p.R1352K	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1317K|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1332K|CACNA1D_ENST00000540742.1_Missense_Mutation_p.R224K	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1332					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTTCTCAGCAGGGGGGAAGGC	0.448													25	22					0	0	0	0	A	53804530	G	A	53804530	3	1	256	1	0	0	0	0	1	0	0	0	2566	1000	35	4	4293	4	CACNA1D	3	53804530	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	4474588	53804530	144217900	31	45819											
ZNF654	55279	broad.mit.edu	37	chr3	88189761	88189761	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatatagtcaatggacacaGtgaaatagagcaaacacctt	17	9	8	7	0	1	3	1	2	0	1	1	4	1	4	1	1	2	1	1	1	6	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:88189761G>C	ENST00000309495.5	+	1	1508	c.1301G>C	c.(1300-1302)aGt>aCt	p.S434T	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AATGGACACAGTGAAATAGAG	0.353													36	31					0	0	0	0	C	88189761	G	C	88189761	3	2	256	1	0	0	0	0	1	0	0	0	18162	1029	36	4	1303	4	ZNF654	3	88189761	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	34385231	88189761	109832669	32	45820											
OR5H15	403274	broad.mit.edu	37	chr3	97888271	97888271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccttttccacctgtggagCccatctcttctctgtctgtt	4	16	7	14	0	3	0	0	0	3	0	6	1	4	1	4	1	2	1	4	1	0	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:97888271C>A	ENST00000356526.2	+	1	728	c.728C>A	c.(727-729)gCc>gAc	p.A243D		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ACCTGTGGAGCCCATCTCTTC	0.428													21	65					1.1804e-14	3.52843e-14	1	0	A	97888271	C	A	97888271	3	1	256	1	0	0	0	0	1	0	0	0	11232	739	26	4	730	4	OR5H15	3	97888271	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	9698510	97888271	100134159	33	45821											
TMEM108	66000	broad.mit.edu	37	chr3	133099858	133099858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atttcctcaaccgcctggtcCccgccgggacctggaagcct	6	8	10	17	3	1	0	1	0	0	0	3	2	3	2	8	3	2	0	8	3	2	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:133099858C>T	ENST00000515826.1	+	3	1426	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.P435S|TMEM108_ENST00000393130.3_Missense_Mutation_p.P435S			Q6UXF1	TM108_HUMAN	transmembrane protein 108	435						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCGCCTGGTCCCCGCCGGGAC	0.632													22	36					0	0	0	0	T	133099858	C	T	133099858	3	4	256	1	0	0	0	0	1	0	0	0	16118	623	22	4	1309	4	TMEM108	3	133099858	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	35211587	133099858	64922572	34	45822											
KLHL24	54800	broad.mit.edu	37	chr3	183368452	183368452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatgaccacagggaaagccGagaaatgttggttgagatca	15	8	12	6	1	1	3	1	2	0	2	1	6	1	4	2	2	1	2	2	2	3	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:183368452G>A	ENST00000454652.1	+	4	694	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	KLHL24_ENST00000476808.1_Missense_Mutation_p.R103Q|KLHL24_ENST00000242810.6_Missense_Mutation_p.R103Q			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	103	BTB.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGGGAAAGCCGAGAAATGTTG	0.398													42	103					0	0	0	0	A	183368452	G	A	183368452	3	1	256	1	0	0	0	0	1	0	0	0	8431	1058	37	1	310	1	KLHL24	3	183368452	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	50268594	183368452	14653978	35	45823											
YEATS2	55689	broad.mit.edu	37	chr3	183521945	183521945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgacggggactccatcgaGgacgtgctgacccagatcga	11	6	13	11	4	0	3	0	2	0	1	3	7	1	5	2	3	1	1	2	3	1	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:183521945G>C	ENST00000305135.5	+	27	3948	c.3753G>C	c.(3751-3753)gaG>gaC	p.E1251D		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1251					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACTCCATCGAGGACGTGCTGA	0.612													10	85					0	0	0	0	C	183521945	G	C	183521945	3	2	256	1	0	0	0	0	1	0	0	0	17568	991	35	4	3855	4	YEATS2	3	183521945	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	153493	183521945	14500485	36	45824											
TMEM175	84286	broad.mit.edu	37	chr4	949582	949582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacccagtggaagtcttctCgtttgacctccacgagccac	8	10	8	15	2	3	1	1	1	2	0	5	3	4	2	4	1	1	1	4	1	1	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:949582C>T	ENST00000264771.4	+	10	931	c.746C>T	c.(745-747)tCg>tTg	p.S249L	TMEM175_ENST00000508204.1_Missense_Mutation_p.S167L|TMEM175_ENST00000515740.1_Missense_Mutation_p.S133L	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	249						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAAGTCTTCTCGTTTGACCTC	0.637													7	20					0	0	0	0	T	949582	C	T	949582	3	4	256	1	0	0	0	0	1	0	0	0	16185	893	31	1	780	1	TMEM175	4	949582	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08		949582	190204694	37	45825											
FGFR3	2261	broad.mit.edu	37	chr4	1801019	1801019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggccagcaggagcagttgGtcttcggcagcggggatgct	6	7	17	11	3	1	0	0	0	1	0	2	2	1	2	2	6	4	5	2	6	0	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:1801019G>A	ENST00000340107.4	+	3	404	c.148G>A	c.(148-150)Gtc>Atc	p.V50I	FGFR3_ENST00000440486.2_Missense_Mutation_p.V50I|FGFR3_ENST00000260795.2_Missense_Mutation_p.V50I|FGFR3_ENST00000412135.2_Missense_Mutation_p.V50I|FGFR3_ENST00000481110.2_Missense_Mutation_p.V50I|FGFR3_ENST00000352904.1_Missense_Mutation_p.V50I	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	50	Ig-like C2-type 1.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGAGCAGTTGGTCTTCGGCAG	0.677		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				14	61					0	0	0	0	A	1801019	G	A	1801019	3	1	256	1	0	0	0	0	1	0	0	0	5912	1261	44	4	154	4	FGFR3	4	1801019	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	851437	1801019	189353257	38	45826											
COPS4	51138	broad.mit.edu	37	chr4	83970432	83970433	+	Frame_Shift_Ins	INS	-	-	A																															aatctatcacttcaccttggINSaaaagatccagcctagagtc																										TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:83970432_83970433insA	ENST00000509093.1	+	3	1046_1047	c.268_269insA	c.(268-270)aaafs	p.K90fs	COPS4_ENST00000511653.1_Frame_Shift_Ins_p.K90fs|COPS4_ENST00000503682.1_Frame_Shift_Ins_p.K90fs|COPS4_ENST00000264389.2_Frame_Shift_Ins_p.K90fs|COPS4_ENST00000511708.1_3'UTR	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	90					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CTTCACCTTGGAAAAGATCCAG	0.406													15	35	---	---	---	---					A	83970433	-	A	83970432	7	5	256	1	0	1	1	0	0	0	0	0	3765	1175	41	0	278	0	COPS4	4	83970432	Frame_Shift_Ins	INS	-	TCGA-CV-6941-01A-11D-1912-08	82169413	83970432	107183844	39	45827											
GRID2	2895	broad.mit.edu	37	chr4	94031921	94031921	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccgtggaatacaggagttCttggacaaagtctctcagca	12	10	10	9	1	3	0	1	0	2	0	5	3	4	3	1	3	2	2	1	3	3	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:94031921C>T	ENST00000282020.4	+	4	810	c.552C>T	c.(550-552)ttC>ttT	p.F184F	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Silent_p.F89F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	184					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TACAGGAGTTCTTGGACAAAG	0.383													20	71					0	0	0	0	T	94031921	C	T	94031921	2	4	256	1	0	0	0	0	0	0	0	1	6822	912	32	2		2	GRID2	4	94031921	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08	10061489	94031921	97122355	40	45828											
DKK2	27123	broad.mit.edu	37	chr4	107956552	107956552	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtttttgcccttcttaCtgccgccgaatgccagtcct	5	13	8	15	2	1	0	0	0	1	0	2	1	2	0	6	1	4	1	6	1	2	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:107956552C>G	ENST00000285311.3	-	1	902	c.197G>C	c.(196-198)aGt>aCt	p.S66T	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	66					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCCCTTCTTACTGCCGCCGAA	0.577													14	34					0	0	0	0	G	107956552	C	G	107956552	3	3	256	1	0	0	0	0	1	0	0	0	4582	565	20	4	598	4	DKK2	4	107956552	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	13924631	107956552	83197724	41	45829											
COL25A1	84570	broad.mit.edu	37	chr4	109805340	109805340	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtgcagtatttacctttatCcccggaagtccaggaagccc	9	10	9	13	2	0	0	0	0	0	0	2	2	2	2	5	2	3	2	5	2	5	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:109805340C>T	ENST00000399132.1	-	19	1544	c.1014G>A	c.(1012-1014)ggG>ggA	p.G338G	COL25A1_ENST00000399127.1_Silent_p.G334G|COL25A1_ENST00000399126.1_Silent_p.G338G	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	338	Collagen-like 4.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TTACCTTTATCCCCGGAAGTC	0.408													9	40					0	0	0	0	T	109805340	C	T	109805340	2	4	256	1	0	0	0	0	0	0	0	1	3714	842	30	2		2	COL25A1	4	109805340	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08	1848788	109805340	81348936	42	45830											
PCDH10	57575	broad.mit.edu	37	chr4	134072702	134072702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagccagccggtctacgaCgtgtatgtgactgaaaacaa	12	9	10	10	3	2	2	1	2	1	0	2	3	2	2	2	1	4	1	2	1	5	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:134072702C>T	ENST00000264360.4	+	1	2233	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	469	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGTCTACGACGTGTATGTGA	0.622													31	63					0	0	0	0	T	134072702	C	T	134072702	2	4	256	1	0	0	0	0	0	0	0	1	11578	535	19	1		1	PCDH10	4	134072702	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08	24267362	134072702	57081574	43	45831											
STOX2	56977	broad.mit.edu	37	chr4	184931970	184931970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaggaggagtcaccaaaagGgccgggtgggggccccgctg	9	3	18	11	2	1	0	1	0	0	0	1	2	1	2	4	6	0	1	4	6	3	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:184931970G>A	ENST00000308497.4	+	3	3414	c.1979G>A	c.(1978-1980)gGg>gAg	p.G660E	STOX2_ENST00000438269.1_Missense_Mutation_p.G660E	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	660					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TCACCAAAAGGGCCGGGTGGG	0.642													5	13					0	0	0	0	A	184931970	G	A	184931970	3	1	256	1	0	0	0	0	1	0	0	0	15410	1232	43	4	1989	4	STOX2	4	184931970	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	50859268	184931970	6222306	44	45832											
ADAMTS16	170690	broad.mit.edu	37	chr5	5237176	5237176	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgggactccatgctcggaGgatagccgtaatgtttgtat	9	12	13	7	2	0	0	0	0	0	0	2	4	1	3	2	3	2	4	2	3	3	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:5237176G>A	ENST00000274181.7	+	14	2256	c.2118G>A	c.(2116-2118)gaG>gaA	p.E706E	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	706	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CATGCTCGGAGGATAGCCGTA	0.388													36	60					0	0	0	0	A	5237176	G	A	5237176	2	1	256	1	0	0	0	0	0	0	0	1	261	991	35	4		4	ADAMTS16	5	5237176	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08		5237176	175678084	45	45833											
DNAH5	1767	broad.mit.edu	37	chr5	13769209	13769209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctcagccttgaccttttCagcagcctgtgctttcattg	6	15	7	13	0	3	1	3	1	0	0	3	1	3	1	4	0	5	2	4	0	1	6			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:13769209C>T	ENST00000265104.4	-	58	9861	c.9757G>A	c.(9757-9759)Gaa>Aaa	p.E3253K	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3253	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGACCTTTTCAGCAGCCTGT	0.428									Kartagener syndrome				102	260					0	0	0	0	T	13769209	C	T	13769209	3	4	256	1	0	0	0	0	1	0	0	0	4641	835	29	2	4205	2	DNAH5	5	13769209	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	8532033	13769209	167146051	46	45834											
DNAJC21	134218	broad.mit.edu	37	chr5	34945007	34945007	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcaaagaagcatcgggAaatggtggccttgctaaaac	15	7	12	7	1	1	1	1	0	0	1	2	3	1	2	1	3	3	2	1	3	6	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:34945007A>G	ENST00000382021.2	+	8	1246	c.1019A>G	c.(1018-1020)gAa>gGa	p.E340G	DNAJC21_ENST00000303525.7_Missense_Mutation_p.E340G|DNAJC21_ENST00000342382.4_Missense_Mutation_p.E340G	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	340	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AAGCATCGGGAAATGGTGGCC	0.408													115	137					0	0	0	0	G	34945007	A	G	34945007	3	3	256	1	0	0	0	0	1	0	0	0	4676	246	9	5	1049	5	DNAJC21	5	34945007	Missense_Mutation	SNP	A	TCGA-CV-6941-01A-11D-1912-08	21175798	34945007	145970253	47	45835											
WDR70	55100	broad.mit.edu	37	chr5	37480011	37480011	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggaagctctcaggccaaGgtgattgacagagatggttt	10	11	13	7	0	2	3	1	2	2	1	3	5	2	4	1	4	1	2	1	4	2	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:37480011G>A	ENST00000265107.4	+	8	918	c.762G>A	c.(760-762)aaG>aaA	p.K254K	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Silent_p.K254K	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	254										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCAGGCCAAGGTGATTGACA	0.383													19	106					0	0	0	0	A	37480011	G	A	37480011	2	1	256	1	0	0	0	0	0	0	0	1	17417	991	35	4		4	WDR70	5	37480011	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08	2535004	37480011	143435249	48	45836											
PDE8B	8622	broad.mit.edu	37	chr5	76714063	76714063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatatcccagggaagcctcGatcagttggatgaggtggca	10	8	13	10	1	1	1	1	1	0	0	3	4	2	3	3	4	1	2	3	4	2	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:76714063G>A	ENST00000264917.5	+	18	1966	c.1921G>A	c.(1921-1923)Gat>Aat	p.D641N	PDE8B_ENST00000505283.1_Missense_Mutation_p.D106N|PDE8B_ENST00000340978.3_Missense_Mutation_p.D594N|PDE8B_ENST00000342343.4_Missense_Mutation_p.D621N|PDE8B_ENST00000346042.3_Missense_Mutation_p.D544N|PDE8B_ENST00000333194.4_Missense_Mutation_p.D586N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	641	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GGGAAGCCTCGATCAGTTGGA	0.577													11	24					0	0	0	0	A	76714063	G	A	76714063	3	1	256	1	0	0	0	0	1	0	0	0	11725	1058	37	1	1991	1	PDE8B	5	76714063	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	39234052	76714063	104201197	49	45837											
TGFBI	7045	broad.mit.edu	37	chr5	135383029	135383029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccaacggggtggtgcacCtcatcgataaggtcatctcc	10	8	10	13	2	3	0	2	0	1	0	5	1	3	0	3	4	3	1	3	4	3	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:135383029C>T	ENST00000442011.2	+	6	852	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	TGFBI_ENST00000305126.8_Missense_Mutation_p.L231F	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	231	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGGTGCACCTCATCGATAA	0.547													77	74					0	0	0	0	T	135383029	C	T	135383029	3	4	256	1	0	0	0	0	1	0	0	0	15914	681	24	4	713	4	TGFBI	5	135383029	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	58668966	135383029	45532231	50	45838											
NSD1	64324	broad.mit.edu	37	chr5	176673717	176673717	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagccaaggaagcgaaaaCgacagaggcatgctgcagcc	16	2	12	11	2	0	1	0	0	0	1	0	4	0	2	2	2	6	3	2	2	5	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:176673717C>T	ENST00000439151.2	+	10	4462	c.4417C>T	c.(4417-4419)Cga>Tga	p.R1473*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1204*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1370*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1204*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1473					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAAGCGAAAACGACAGAGGCA	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			33	24					0	0	0	0	T	176673717	C	T	176673717	4	4	256	1	0	0	0	0	0	1	0	0	10740	528	19	1	4451	1	NSD1	5	176673717	Nonsense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	41290688	176673717	4241543	51	45839											
RANBP9	10048	broad.mit.edu	37	chr6	13639954	13639954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatcgtacttcactatctgTaccattcaccatttctataa	12	15	2	12	1	4	0	2	0	2	0	5	0	4	0	2	0	2	2	2	0	5	8			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:13639954T>C	ENST00000011619.3	-	9	1424	c.1366A>G	c.(1366-1368)Aca>Gca	p.T456A	RANBP9_ENST00000539980.1_Missense_Mutation_p.T227A	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	456	CTLH.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCACTATCTGTACCATTCACC	0.388													11	31					0	0	0	0	C	13639954	T	C	13639954	3	2	256	1	0	0	0	0	1	0	0	0	13114	1638	57	5	847	5	RANBP9	6	13639954	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08		13639954	157475113	52	45840											
EHMT2	10919	broad.mit.edu	37	chr6	31855962	31855962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcatcctccccacagtggGgacagaagaccatcccattc	12	6	8	15	0	0	2	0	0	0	2	4	3	3	3	5	2	1	1	5	2	2	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:31855962G>A	ENST00000395728.3	-	12	1771	c.1772C>T	c.(1771-1773)cCc>cTc	p.P591L	EHMT2_ENST00000375530.4_Missense_Mutation_p.P500L|EHMT2_ENST00000375537.4_Missense_Mutation_p.P534L|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.P557L			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	534					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CCCACAGTGGGGACAGAAGAC	0.652													9	37					0	0	0	0	A	31855962	G	A	31855962	3	1	256	1	0	0	0	0	1	0	0	0	5020	1232	43	4	2095	4	EHMT2	6	31855962	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	18216008	31855962	139259105	53	45841											
ZBTB9	221504	broad.mit.edu	37	chr6	33423997	33423997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgggcctgtgaagctaGgggggacaccccctgcagat	8	7	15	11	0	0	2	0	1	0	1	0	3	0	3	3	4	3	3	3	4	2	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:33423997G>A	ENST00000395064.2	+	2	1388	c.1120G>A	c.(1120-1122)Ggg>Agg	p.G374R		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	374	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGTGAAGCTAGGGGGGACACC	0.587													10	19					0	0	0	0	A	33423997	G	A	33423997	3	1	256	1	0	0	0	0	1	0	0	0	17653	1000	35	4	1122	4	ZBTB9	6	33423997	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	1568035	33423997	137691070	54	45842											
PACSIN1	29993	broad.mit.edu	37	chr6	34499414	34499414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggccagccctacgccaccGagtggtcagacgacgagagt	10	4	14	13	4	1	2	1	0	0	2	1	6	1	2	4	2	2	0	4	2	1	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:34499414G>A	ENST00000538621.1	+	9	1320	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	PACSIN1_ENST00000244458.2_Missense_Mutation_p.E359K|PACSIN1_ENST00000374043.2_Missense_Mutation_p.E317K	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	359					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTACGCCACCGAGTGGTCAGA	0.647													34	121					0	0	0	0	A	34499414	G	A	34499414	3	1	256	1	0	0	0	0	1	0	0	0	11445	1059	37	1	1105	1	PACSIN1	6	34499414	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	1075417	34499414	136615653	55	45843											
DAAM2	23500	broad.mit.edu	37	chr6	39859202	39859202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggatggcccgtgctgaccGcttcctctatgaaatgagca	8	9	12	12	3	1	3	0	3	1	0	2	4	2	4	3	2	2	3	3	2	2	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:39859202G>A	ENST00000538976.1	+	18	2413	c.2231G>A	c.(2230-2232)cGc>cAc	p.R744H	RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.R744H|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R744H	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	744	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGTGCTGACCGCTTCCTCTAT	0.577													4	12					0	0	0	0	A	39859202	G	A	39859202	3	1	256	1	0	0	0	0	1	0	0	0	4249	1087	38	1	2297	1	DAAM2	6	39859202	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	5359788	39859202	131255865	56	45844											
TRERF1	55809	broad.mit.edu	37	chr6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-																															caaaagccgccttctgagccTtttgcctctgttgttcctcc																										TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)agfs	p.K1138fs	TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													7	642	---	---	---	---					-	42196333	T	-	42196333	7	5	256	1	0	1	0	1	0	0	0	0	16570	1609	56	0	253	0	TRERF1	6	42196333	Frame_Shift_Del	DEL	T	TCGA-CV-6941-01A-11D-1912-08	2337131	42196333	128918734	57	45845											
SYNE1	23345	broad.mit.edu	37	chr6	152527463	152527463	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccacagtcaggatgtagCtgccttgttgccgcagaaac	9	9	10	13	1	1	1	1	0	0	1	2	2	2	2	4	1	4	4	4	1	2	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:152527463C>G	ENST00000367255.5	-	126	23460	c.22859G>C	c.(22858-22860)aGc>aCc	p.S7620T	SYNE1_ENST00000341594.5_Missense_Mutation_p.S7232T|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7620T|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2144T|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7549T|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7549T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7620					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGGATGTAGCTGCCTTGTTG	0.478										HNSCC(10;0.0054)			9	40					0	0	0	0	G	152527463	C	G	152527463	3	3	256	1	0	0	0	0	1	0	0	0	15536	797	28	4	3691	4	SYNE1	6	152527463	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	110331130	152527463	18587604	58	45846											
PMS2	5395	broad.mit.edu	37	chr7	6045547	6045547	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attagtggcaccagcatccaGactgttttctactaactcct	10	13	6	12	0	1	1	0	0	1	1	3	1	3	1	3	1	3	3	3	1	3	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:6045547G>A	ENST00000265849.7	-	2	244	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	PMS2_ENST00000406569.3_Silent_p.L47L|PMS2_ENST00000382321.4_Silent_p.L47L|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	47					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CCAGCATCCAGACTGTTTTCT	0.413			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				69	336					0	0	0	0	A	6045547	G	A	6045547	2	1	256	1	0	0	0	0	0	0	0	1	12215	933	33	2		2	PMS2	7	6045547	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08		6045547	153093116	59	45847											
ABCB5	340273	broad.mit.edu	37	chr7	20683197	20683197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgaagggctggaaactcaCcctagtgactctatccacgt	10	9	11	11	1	2	2	1	2	1	0	3	3	3	3	2	3	1	1	2	3	4	2	rs138449195	by1000genomes	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:20683197C>T	ENST00000404938.2	+	7	1272	c.620C>T	c.(619-621)aCc>aTc	p.T207I		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	393					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGGAAACTCACCCTAGTGACT	0.443													32	44					0	0	0	0	T	20683197	C	T	20683197	3	4	256	1	0	0	0	0	1	0	0	0	44	507	18	4	642	4	ABCB5	7	20683197	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	14637650	20683197	138455466	60	45848											
DNAH11	8701	broad.mit.edu	37	chr7	21940799	21940799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggccccagctacatctggaCcttcaggctgaagagcgaag	11	6	12	12	1	2	2	1	1	1	1	2	4	2	3	3	3	3	2	3	3	3	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:21940799C>T	ENST00000328843.6	+	83	13530	c.13499C>T	c.(13498-13500)aCc>aTc	p.T4500I	CDCA7L_ENST00000406877.3_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.T4493I|CDCA7L_ENST00000356195.5_3'UTR			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4500					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TACATCTGGACCTTCAGGCTG	0.512									Kartagener syndrome				21	41					0	0	0	0	T	21940799	C	T	21940799	3	4	256	1	0	0	0	0	1	0	0	0	4636	507	18	4	13826	4	DNAH11	7	21940799	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	1257602	21940799	137197864	61	45849											
OGDH	4967	broad.mit.edu	37	chr7	44739836	44739836	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaacttcttccacgtgctaCgacgccagatcctgctgcca	8	9	8	16	3	1	1	0	0	1	1	3	2	3	1	4	0	5	3	4	0	2	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:44739836C>A	ENST00000222673.5	+	19	2569	c.2527C>A	c.(2527-2529)Cga>Aga	p.R843R	OGDH_ENST00000449767.1_Silent_p.R839R|OGDH_ENST00000447398.1_Silent_p.R854R|OGDH_ENST00000444676.1_Silent_p.R858R|OGDH_ENST00000439616.2_Silent_p.R693R|OGDH_ENST00000543843.1_Silent_p.R794R	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	843					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCACGTGCTACGACGCCAGAT	0.572													20	85					4.35082e-09	1.27302e-08	1	0	A	44739836	C	A	44739836	2	1	256	1	0	0	0	0	0	0	0	1	10910	528	19	3		3	OGDH	7	44739836	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08	22799037	44739836	114398827	62	45850											
ZNF107	51427	broad.mit.edu	37	chr7	64166756	64166756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagcagaacataaaagattCtttccagaaagtgacactga	18	8	8	7	0	1	6	0	2	1	4	2	6	2	6	1	0	2	1	1	0	4	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:64166756C>T	ENST00000395391.1	+	4	1449	c.74C>T	c.(73-75)tCt>tTt	p.S25F	ZNF107_ENST00000344930.3_Missense_Mutation_p.S25F|ZNF107_ENST00000423627.1_Missense_Mutation_p.S25F			Q9UII5	ZN107_HUMAN	zinc finger protein 107	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ATAAAAGATTCTTTCCAGAAA	0.358													33	33					0	0	0	0	T	64166756	C	T	64166756	3	4	256	1	0	0	0	0	1	0	0	0	17810	913	32	2	80	2	ZNF107	7	64166756	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	19426920	64166756	94971907	63	45851											
TYW1B	441250	broad.mit.edu	37	chr7	72159821	72159821	+	RNA	DEL	T	T	-																															ggctcgaggttccttagtaaTttttttttttaaaggaagaa																										TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:72159821delT	ENST00000438125.1	-	0	984							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TCCTTAGTAATTTTTTTTTTT	0.388													8	47	---	---	---	---					-	72159821	T	-	72159821	6	5	256	0	1	1	0	1	0	0	0	0	16915	1508	52	0		0	TYW1B	7	72159821	RNA	DEL	T	TCGA-CV-6941-01A-11D-1912-08	7993065	72159821	86978842	64	45852											
ANKIB1	54467	broad.mit.edu	37	chr7	92015905	92015905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggttattacagatgtactcGctatgaagtcattcaacacg	13	12	8	8	2	2	2	2	1	0	1	3	2	2	2	0	1	3	3	0	1	6	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:92015905G>A	ENST00000265742.3	+	12	2076	c.1700G>A	c.(1699-1701)cGc>cAc	p.R567H		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	567							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGATGTACTCGCTATGAAGTC	0.423													17	14					0	0	0	0	A	92015905	G	A	92015905	3	1	256	1	0	0	0	0	1	0	0	0	630	1087	38	1	1742	1	ANKIB1	7	92015905	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	19856084	92015905	67122758	65	45853											
SLC26A5	375611	broad.mit.edu	37	chr7	103018069	103018069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccagagttttcactccaaCagaatcaataaaattgactt	15	12	5	9	0	2	3	2	1	0	2	3	3	3	3	2	0	2	1	2	0	5	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:103018069C>A	ENST00000306312.3	-	18	2224	c.1963G>T	c.(1963-1965)Gtt>Ttt	p.V655F	SLC26A5_ENST00000393729.1_Missense_Mutation_p.V618F|SLC26A5_ENST00000393723.1_Missense_Mutation_p.V625F|SLC26A5_ENST00000393727.1_Missense_Mutation_p.V657F|SLC26A5_ENST00000393730.1_Missense_Mutation_p.V623F|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.V88F|SLC26A5_ENST00000339444.6_Missense_Mutation_p.V655F|SLC26A5_ENST00000432958.2_Missense_Mutation_p.V623F	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	655	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTCACTCCAACAGAATCAATA	0.438													13	58					4.3838e-07	1.26263e-06	1	0	A	103018069	C	A	103018069	3	1	256	1	0	0	0	0	1	0	0	0	14608	478	17	4	324	4	SLC26A5	7	103018069	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	11002164	103018069	56120594	66	45854											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138738294	138738294	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggcttgtcgcataaaatagGagttttccttcttccttcat	8	16	7	10	2	2	0	1	0	1	0	5	1	4	1	2	2	0	3	2	2	3	8			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:138738294G>A	ENST00000242351.5	-	12	2668	c.2352C>T	c.(2350-2352)ctC>ctT	p.L784L	ZC3HAV1_ENST00000464606.1_Silent_p.L906L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	784	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CATAAAATAGGAGTTTTCCTT	0.383													18	39					0	0	0	0	A	138738294	G	A	138738294	2	1	256	1	0	0	0	0	0	0	0	1	17670	1161	41	2		2	ZC3HAV1	7	138738294	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08	35720225	138738294	20400369	67	45855											
PRKAG2	51422	broad.mit.edu	37	chr7	151372597	151372597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacctctgccctgtgtccGggggggaagacgaggcatag	9	6	16	10	2	1	2	0	0	1	2	2	4	2	3	3	4	2	1	3	4	3	1	rs41317142		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:151372597G>T	ENST00000287878.4	-	4	1097	c.593C>A	c.(592-594)cCg>cAg	p.P198Q	PRKAG2_ENST00000492843.1_Missense_Mutation_p.P74Q|PRKAG2_ENST00000433631.2_Missense_Mutation_p.P74Q|PRKAG2_ENST00000392801.2_Missense_Mutation_p.P154Q	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	198					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CCCTGTGTCCGGGGGGGAAGA	0.582													4	73					0.000602214	0.00167349	1	0	T	151372597	G	T	151372597	3	4	256	1	0	0	0	0	1	0	0	0	12581	1116	39	3	1168	3	PRKAG2	7	151372597	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	12634303	151372597	7766066	68	45856											
ZNF596	169270	broad.mit.edu	37	chr8	195353	195353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtaaatcatatggaaGtcatctatttgattatgcct	14	15	6	6	0	3	1	2	1	1	0	3	2	3	2	1	1	1	1	1	1	7	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:195353G>A	ENST00000398612.1	+	6	889	c.506G>A	c.(505-507)aGt>aAt	p.S169N	ZNF596_ENST00000320552.2_Missense_Mutation_p.S99N|ZNF596_ENST00000308811.4_Missense_Mutation_p.S169N	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TCATATGGAAGTCATCTATTT	0.373													18	29					0	0	0	0	A	195353	G	A	195353	3	1	256	1	0	0	0	0	1	0	0	0	18121	1029	36	4	524	4	ZNF596	8	195353	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08		195353	146168669	69	45857											
DLC1	10395	broad.mit.edu	37	chr8	13356766	13356766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcagcttccaaaatctGtttttaataatggcagtcct	12	13	8	8	0	1	0	0	0	1	0	3	1	3	0	2	2	1	4	2	2	5	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:13356766G>A	ENST00000276297.4	-	2	1224	c.815C>T	c.(814-816)aCa>aTa	p.T272I	DLC1_ENST00000511869.1_Missense_Mutation_p.T272I|DLC1_ENST00000316609.5_Missense_Mutation_p.T272I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	272					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCCAAAATCTGTTTTTAATAA	0.428													15	153					0	0	0	0	A	13356766	G	A	13356766	3	1	256	1	0	0	0	0	1	0	0	0	4587	1377	48	4	3924	4	DLC1	8	13356766	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	13161413	13356766	133007256	70	45858											
ARFGEF1	10565	broad.mit.edu	37	chr8	68130079	68130079	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagttttatcccagatttcTagggtaaatttttcaccatt	11	17	5	8	0	2	1	1	0	1	1	3	1	3	1	2	1	0	2	2	1	5	8	rs145845893	byFrequency	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:68130079T>C	ENST00000262215.3	-	32	4940	c.4551A>G	c.(4549-4551)ctA>ctG	p.L1517L	ARFGEF1_ENST00000520381.1_Silent_p.L971L|ARFGEF1_ENST00000518230.1_Silent_p.L355L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1517					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCCAGATTTCTAGGGTAAATT	0.343													26	33					0	0	0	0	C	68130079	T	C	68130079	2	2	256	1	0	0	0	0	0	0	0	1	854	1509	53	5		5	ARFGEF1	8	68130079	Silent	SNP	T	TCGA-CV-6941-01A-11D-1912-08	54773313	68130079	78233943	71	45859											
ZNF517	340385	broad.mit.edu	37	chr8	146033063	146033063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggctgcccaccaccgcgtCcacacccgcgagcggcccta	6	4	10	21	5	0	0	0	0	0	0	1	1	1	0	6	2	2	1	6	2	1	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:146033063C>T	ENST00000359971.3	+	5	869	c.762C>T	c.(760-762)gtC>gtT	p.V254V	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000531720.1_Silent_p.V254V|ZNF517_ENST00000525105.1_Intron	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			ACCACCGCGTCCACACCCGCG	0.692													10	16					0	0	0	0	T	146033063	C	T	146033063	2	4	256	1	0	0	0	0	0	0	0	1	18056	842	30	2		2	ZNF517	8	146033063	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08	77902984	146033063	330959	72	45860											
ZNF16	7564	broad.mit.edu	37	chr8	146157090	146157090	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtttgatgaggtttgaGcttcgcctgaaggccttccc	5	14	13	9	1	0	4	0	4	0	0	2	4	1	4	3	3	1	3	3	3	1	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:146157090G>A	ENST00000276816.4	-	4	1269	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	ZNF16_ENST00000394909.2_Silent_p.S361S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGAGGTTTGAGCTTCGCCTGA	0.522													25	47					0	0	0	0	A	146157090	G	A	146157090	2	1	256	1	0	0	0	0	0	0	0	1	17833	962	34	4		4	ZNF16	8	146157090	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08	124027	146157090	206932	73	45861											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	8	6	10	17	3	2	1	2	1	0	0	4	1	3	1	3	1	4	4	3	1	0	0	rs121913387		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	5					0	0	0	0	A	21971186	G	A	21971186	4	1	256	1	0	0	0	0	0	1	0	0	3190	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08		21971186	119242245	74	45862											
MAMDC2	256691	broad.mit.edu	37	chr9	72723128	72723128	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttcctttctctttccaggCcattacatttatgtggatac	7	18	6	10	0	1	0	0	0	1	0	4	1	3	1	3	2	2	1	3	2	3	7			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:72723128C>T	ENST00000377182.4	+	3	767	c.148_splice	c.e3-1	p.G50_splice	MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	50	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCTTTCCAGGCCATTACATTT	0.448													8	51					0	0	0	0	T	72723128	C	T	72723128	5	4	256	1	0	0	0	0	0	0	1	0	9272	753	26	4	160	4	MAMDC2	9	72723128	Splice_Site	SNP	C	TCGA-CV-6941-01A-11D-1912-08	50751942	72723128	68490303	75	45863											
WNK2	65268	broad.mit.edu	37	chr9	96051365	96051365	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggagactcacgaggccccGcttgctgtgcagcccctcgt	5	7	13	16	4	1	1	1	0	0	1	2	3	1	1	4	2	3	3	4	2	0	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:96051365G>A	ENST00000297954.4	+	20	4440	c.4440G>A	c.(4438-4440)ccG>ccA	p.P1480P	WNK2_ENST00000427277.2_Silent_p.P1055P|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.P1443P|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Silent_p.P1092P			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1480					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACGAGGCCCCGCTTGCTGTGC	0.677													8	0					0	0	0	0	A	96051365	G	A	96051365	2	1	256	1	0	0	0	0	0	0	0	1	17474	1074	38	1		1	WNK2	9	96051365	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08	23328237	96051365	45162066	76	45864											
FANCC	2176	broad.mit.edu	37	chr9	98011545	98011545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccaaaactgataatcaCaagaaagatctactgaatct	18	9	5	9	0	3	4	1	2	2	2	4	4	4	4	1	0	2	1	1	0	7	2	rs143152201	byFrequency	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:98011545C>T	ENST00000289081.3	-	2	283	c.29G>A	c.(28-30)tGt>tAt	p.C10Y	FANCC_ENST00000375305.1_Missense_Mutation_p.C10Y	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	10					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CTGATAATCACAAGAAAGATC	0.478			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	9					0	0	0	0	T	98011545	C	T	98011545	3	4	256	1	0	0	0	0	1	0	0	0	5709	478	17	4	1703	4	FANCC	9	98011545	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	1960180	98011545	43201886	77	45865											
TEX10	54881	broad.mit.edu	37	chr9	103092287	103092287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgcttactatttagcctaGagccatcttcaagggtctct	8	15	8	10	0	3	1	1	0	2	1	4	1	3	1	2	1	4	2	2	1	5	7			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:103092287G>C	ENST00000374902.4	-	6	1591	c.1415C>G	c.(1414-1416)tCt>tGt	p.S472C	TEX10_ENST00000535814.1_Missense_Mutation_p.S475C|TEX10_ENST00000537512.1_Missense_Mutation_p.S407C	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	472						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATTTAGCCTAGAGCCATCTTC	0.423													49	43					0	0	0	0	C	103092287	G	C	103092287	3	2	256	1	0	0	0	0	1	0	0	0	15866	942	33	2	1414	2	TEX10	9	103092287	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	5080742	103092287	38121144	78	45866											
MURC	347273	broad.mit.edu	37	chr9	103348551	103348551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggagcgagtctctgggcCccatcagtgagctctactct	7	9	11	14	1	4	1	1	1	3	0	5	3	4	2	3	2	3	1	3	2	1	1	rs148950537		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:103348551C>A	ENST00000307584.5	+	2	978	c.913C>A	c.(913-915)Ccc>Acc	p.P305T		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	305					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GTCTCTGGGCCCCATCAGTGA	0.587													5	62					0.00307968	0.00847295	1	0	A	103348551	C	A	103348551	3	1	256	1	0	0	0	0	1	0	0	0	10057	623	22	4	919	4	MURC	9	103348551	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	256264	103348551	37864880	79	45867											
MEGF9	1955	broad.mit.edu	37	chr9	123476100	123476100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggacgctgctgttgctgctGctggggagatcgggggtcgg	4	9	20	8	3	0	1	0	0	0	1	2	3	0	2	0	6	4	6	0	6	0	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:123476100G>T	ENST00000373930.3	-	1	648	c.537C>A	c.(535-537)agC>agA	p.S179R	MEGF9_ENST00000426959.1_Missense_Mutation_p.S171R	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	179	Pro-rich.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TGTTGCTGCTGCTGGGGAGAT	0.731													5	32					0.00198382	0.00548526	1	0	T	123476100	G	T	123476100	3	4	256	1	0	0	0	0	1	0	0	0	9533	1310	46	4	1438	4	MEGF9	9	123476100	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	20127549	123476100	17737331	80	45868											
PTGS1	5742	broad.mit.edu	37	chr9	125148893	125148893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcaccccctcatgcctgactCcttcaaggtgggctcccagg	6	8	10	17	0	2	1	2	1	0	0	4	1	4	1	5	3	1	2	5	3	1	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:125148893C>G	ENST00000362012.2	+	9	1183	c.1178C>G	c.(1177-1179)tCc>tGc	p.S393C	PTGS1_ENST00000223423.4_Missense_Mutation_p.S393C|AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000373698.5_Missense_Mutation_p.S284C|PTGS1_ENST00000540753.1_Missense_Mutation_p.S368C	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	393					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	ATGCCTGACTCCTTCAAGGTG	0.552													77	40					0	0	0	0	G	125148893	C	G	125148893	3	3	256	1	0	0	0	0	1	0	0	0	12835	855	30	2	1212	2	PTGS1	9	125148893	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	1672793	125148893	16064538	81	45869											
REXO4	57109	broad.mit.edu	37	chr9	136277920	136277920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaaggcctgctctttcaCgaggctgaggctgacgctgc	6	8	14	13	3	2	2	1	2	1	0	2	4	2	2	2	3	2	4	2	3	1	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:136277920C>T	ENST00000371942.3	-	3	893	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	REXO4_ENST00000371935.2_Intron|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	232						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TGCTCTTTCACGAGGCTGAGG	0.627													10	27					0	0	0	0	T	136277920	C	T	136277920	3	4	256	1	0	0	0	0	1	0	0	0	13325	536	19	1	598	1	REXO4	9	136277920	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	11129027	136277920	4935511	82	45870											
DIP2C	22982	broad.mit.edu	37	chr10	412284	412284	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcaactgcacacacacaCagctccccgatctcatccgt	10	7	6	18	3	1	0	1	0	1	0	5	1	3	0	3	0	3	3	3	0	1	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:412284C>G	ENST00000280886.6	-	19	2286	c.2199G>C	c.(2197-2199)ctG>ctC	p.L733L	DIP2C_ENST00000381496.3_Silent_p.L626L|DIP2C_ENST00000540204.1_Silent_p.L54L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	733						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACACACACACAGCTCCCCGA	0.542													7	44					0	0	0	0	G	412284	C	G	412284	2	3	256	1	0	0	0	0	0	0	0	1	4566	465	17	4		4	DIP2C	10	412284	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08		412284	135122463	83	45871											
KLF6	1316	broad.mit.edu	37	chr10	3823889	3823889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttggtgtaaactttcctgCagccgttaaagtggcaccgg	8	13	11	9	2	0	0	0	0	0	0	1	0	1	0	3	3	3	4	3	3	4	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:3823889C>T	ENST00000497571.1	-	2	880	c.620G>A	c.(619-621)tGc>tAc	p.C207Y	KLF6_ENST00000542957.1_Missense_Mutation_p.C207Y|KLF6_ENST00000469435.1_Missense_Mutation_p.C207Y|KLF6_ENST00000173785.4_Intron	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	207					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		AACTTTCCTGCAGCCGTTAAA	0.657											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	43					0	0	0	0	T	3823889	C	T	3823889	3	4	256	1	0	0	0	0	1	0	0	0	8402	710	25	4	243	4	KLF6	10	3823889	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	3411605	3823889	131710858	84	45872											
ZNF485	220992	broad.mit.edu	37	chr10	44111790	44111790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccctaaagcaaagcacttCtgaagcatctgttctgggag	12	9	10	10	0	3	1	0	1	3	0	3	2	3	2	1	1	4	4	1	1	4	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:44111790C>T	ENST00000361807.3	+	5	493	c.299C>T	c.(298-300)tCt>tTt	p.S100F	ZNF485_ENST00000374437.2_Missense_Mutation_p.S9F|ZNF485_ENST00000374435.3_Missense_Mutation_p.S100F	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						CAAAGCACTTCTGAAGCATCT	0.408													7	36					0	0	0	0	T	44111790	C	T	44111790	3	4	256	1	0	0	0	0	1	0	0	0	18033	913	32	2	313	2	ZNF485	10	44111790	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	40287901	44111790	91422957	85	45873											
PCDH15	65217	broad.mit.edu	37	chr10	56287615	56287615	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactatggtagctggtggTcctcccctagctagtttgca	7	12	11	11	0	0	0	0	0	0	0	2	0	2	0	3	3	4	6	3	3	5	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:56287615T>C	ENST00000373965.2	-	3	508	c.114A>G	c.(112-114)ggA>ggG	p.G38G	RP11-257I14.1_ENST00000422842.1_RNA|PCDH15_ENST00000361849.3_Silent_p.G38G|PCDH15_ENST00000395446.1_Silent_p.G38G|PCDH15_ENST00000414778.1_Silent_p.G43G|PCDH15_ENST00000395440.1_Silent_p.G38G|PCDH15_ENST00000320301.6_Silent_p.G38G|PCDH15_ENST00000395438.1_Silent_p.G38G|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Silent_p.G38G|PCDH15_ENST00000395445.1_Silent_p.G38G|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000437009.1_Silent_p.G38G|PCDH15_ENST00000373955.1_Silent_p.G38G|PCDH15_ENST00000395432.2_Silent_p.G38G|PCDH15_ENST00000395430.1_Silent_p.G38G|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	38					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAGCTGGTGGTCCTCCCCTAG	0.348										HNSCC(58;0.16)			22	22					0	0	0	0	C	56287615	T	C	56287615	2	2	256	1	0	0	0	0	0	0	0	1	11582	1654	58	5		5	PCDH15	10	56287615	Silent	SNP	T	TCGA-CV-6941-01A-11D-1912-08	12175825	56287615	79247132	86	45874											
ANK3	288	broad.mit.edu	37	chr10	61832598	61832598	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacttgctgtcctcagtctGttgggagagaaccatcttct	7	13	11	10	0	4	1	1	0	3	1	5	4	5	3	2	2	2	2	2	2	1	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:61832598G>A	ENST00000280772.1	-	37	8232	c.8041C>T	c.(8041-8043)Cag>Tag	p.Q2681*	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2681					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCTCAGTCTGTTGGGAGAGA	0.542													24	44					0	0	0	0	A	61832598	G	A	61832598	4	1	256	1	0	0	0	0	0	1	0	0	622	1386	48	4	5433	4	ANK3	10	61832598	Nonsense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	5544983	61832598	73702149	87	45875											
CDHR1	92211	broad.mit.edu	37	chr10	85964326	85964326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgccatggatggagaccgggGcaaacccaatcgaattctct	11	7	11	12	3	1	1	0	0	1	1	3	4	1	2	3	4	1	1	3	4	3	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:85964326G>A	ENST00000372117.3	+	9	930	c.827G>A	c.(826-828)gGc>gAc	p.G276D	CDHR1_ENST00000440770.2_Missense_Mutation_p.G35D|CDHR1_ENST00000332904.3_Missense_Mutation_p.G276D	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	276	Cadherin 3.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGAGACCGGGGCAAACCCAAT	0.577													31	43					0	0	0	0	A	85964326	G	A	85964326	3	1	256	1	0	0	0	0	1	0	0	0	3147	1203	42	4	861	4	CDHR1	10	85964326	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	24131728	85964326	49570421	88	45876											
GRID1	2894	broad.mit.edu	37	chr10	87614311	87614311	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaggatttcaaactggAcatagggattcgaactgtcc	12	10	10	9	1	1	0	1	0	0	0	3	4	2	3	2	3	3	0	2	3	4	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:87614311A>T	ENST00000327946.7	-	8	1260	c.1175T>A	c.(1174-1176)gTc>gAc	p.V392D		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	392						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TTCAAACTGGACATAGGGATT	0.493										Multiple Myeloma(13;0.14)			11	48					0	0	0	0	T	87614311	A	T	87614311	3	4	256	1	0	0	0	0	1	0	0	0	6821	275	10	5	1890	5	GRID1	10	87614311	Missense_Mutation	SNP	A	TCGA-CV-6941-01A-11D-1912-08	1649985	87614311	47920436	89	45877											
GBF1	8729	broad.mit.edu	37	chr10	104136823	104136823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaacatgcctctcggggcGggcagagtgatgatgatgag	9	7	16	9	2	1	5	0	4	1	1	2	5	1	5	2	3	2	1	2	3	1	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:104136823G>A	ENST00000369983.3	+	33	4677	c.4417G>A	c.(4417-4419)Ggg>Agg	p.G1473R		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1473					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	p.G1473R(1)		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)		CTCTCGGGGCGGGCAGAGTGA	0.532													55	71					0	0	0	0	A	104136823	G	A	104136823	3	1	256	1	0	0	0	0	1	0	0	0	6320	1116	39	1	4543	1	GBF1	10	104136823	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	16522512	104136823	31397924	90	45878											
OR51E2	81285	broad.mit.edu	37	chr11	4703255	4703255	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttggcccgctctgacttGgaaggcagttgcagaaccgt	7	9	13	12	2	1	2	0	1	1	1	1	3	1	3	3	3	2	4	3	3	2	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:4703255G>A	ENST00000396950.3	-	2	926	c.687C>T	c.(685-687)tcC>tcT	p.S229S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCTCTGACTTGGAAGGCAGTT	0.498													16	49					0	0	0	0	A	4703255	G	A	4703255	2	1	256	1	0	0	0	0	0	0	0	1	11166	1335	47	4		4	OR51E2	11	4703255	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08		4703255	130303261	91	45879											
OR51I2	390064	broad.mit.edu	37	chr11	5474810	5474810	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggctgtcagggccccTctgcgtgatgtatgctgtgg	3	12	14	12	1	2	1	1	1	1	0	3	1	3	1	3	3	2	3	3	3	1	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:5474810T>G	ENST00000341449.2	+	1	173	c.92T>G	c.(91-93)cTc>cGc	p.L31R	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGGCCCCTCTGCGTGATG	0.562													5	43					0	0	0	0	G	5474810	T	G	5474810	3	3	256	1	0	0	0	0	1	0	0	0	11172	1551	54	5	94	5	OR51I2	11	5474810	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08	771555	5474810	129531706	92	45880											
PLEKHA7	144100	broad.mit.edu	37	chr11	17035570	17035570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgccctcctccgtgaagcCctcctcccagccgcggggca	4	5	12	20	4	0	1	0	1	0	0	4	1	4	1	7	3	2	1	7	3	1	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:17035570C>T	ENST00000355661.3	-	3	197	c.187G>A	c.(187-189)Ggc>Agc	p.G63S	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.G63S|OR7E14P_ENST00000530490.1_RNA|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.G63S|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	63	WW 2.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCCGTGAAGCCCTCCTCCCAG	0.751													2	1					0	0	0	0	T	17035570	C	T	17035570	3	4	256	1	0	0	0	0	1	0	0	0	12133	623	22	4	3262	4	PLEKHA7	11	17035570	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	11560760	17035570	117970946	93	45881											
PAX6	5080	broad.mit.edu	37	chr11	31823109	31823109	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgttctcaatgaacttacGcttggtatgttatcgttggt	8	17	10	6	2	1	1	1	1	1	0	3	2	1	1	0	2	2	5	0	2	5	6	rs121907928		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:31823109G>T	ENST00000419022.1	-	7	867	c.399_splice	c.e7+1	p.S133_splice	PAX6_ENST00000379129.2_Splice_Site_p.S133_splice|PAX6_ENST00000379111.2_Splice_Site_p.S119_splice|PAX6_ENST00000379123.5_Splice_Site_p.S119_splice|PAX6_ENST00000379107.2_Splice_Site_p.S133_splice|PAX6_ENST00000379115.4_Splice_Site_p.S133_splice|PAX6_ENST00000241001.8_Splice_Site_p.S119_splice|PAX6_ENST00000379132.3_Splice_Site_p.S119_splice	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	119	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	p.S133S(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					ATGAACTTACGCTTGGTATGT	0.512									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				10	35					2.17888e-05	6.17907e-05	1	0	T	31823109	G	T	31823109	5	4	256	1	0	0	0	0	0	0	1	0	11554	1101	38	3	943	3	PAX6	11	31823109	Splice_Site	SNP	G	TCGA-CV-6941-01A-11D-1912-08	14787539	31823109	103183407	94	45882											
DEPDC7	91614	broad.mit.edu	37	chr11	33054913	33054913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaactcttgatgaggattCaaaactttctgccaaagaga	17	10	7	7	0	3	3	1	2	2	1	3	5	3	4	1	1	3	0	1	1	5	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:33054913C>T	ENST00000311388.3	+	9	1797	c.1421C>T	c.(1420-1422)tCa>tTa	p.S474L	DEPDC7_ENST00000241051.3_Missense_Mutation_p.S483L	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	483					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						GATGAGGATTCAAAACTTTCT	0.338													11	39					0	0	0	0	T	33054913	C	T	33054913	3	4	256	1	0	0	0	0	1	0	0	0	4481	838	29	2	1532	2	DEPDC7	11	33054913	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	1231804	33054913	101951603	95	45883											
PAMR1	25891	broad.mit.edu	37	chr11	35496243	35496243	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgagcatttaggggataGctttccaacaaaatctgacc	13	10	9	9	0	1	2	0	2	1	0	2	3	2	3	2	2	3	2	2	2	5	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:35496243G>A	ENST00000378880.2	-	4	874	c.429C>T	c.(427-429)agC>agT	p.S143S	PAMR1_ENST00000378878.3_Intron|PAMR1_ENST00000532848.1_Silent_p.S103S|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Silent_p.S143S	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	143	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTAGGGGATAGCTTTCCAACA	0.463													22	55					0	0	0	0	A	35496243	G	A	35496243	2	1	256	1	0	0	0	0	0	0	0	1	11484	962	34	4		4	PAMR1	11	35496243	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08	2441330	35496243	99510273	96	45884											
CKAP5	9793	broad.mit.edu	37	chr11	46780912	46780912	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgtaccattgtcattcTcaatctcatctagatccagc	10	13	6	12	0	4	1	3	0	3	1	7	2	5	2	2	1	2	1	2	1	3	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:46780912T>A	ENST00000529230.1	-	34	4521	c.4475A>T	c.(4474-4476)gAg>gTg	p.E1492V	CKAP5_ENST00000415402.1_Missense_Mutation_p.E1492V|CKAP5_ENST00000312055.5_Missense_Mutation_p.E1492V|CKAP5_ENST00000354558.3_Missense_Mutation_p.E1492V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1492					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATTGTCATTCTCAATCTCATC	0.493													16	62					0	0	0	0	A	46780912	T	A	46780912	3	1	256	1	0	0	0	0	1	0	0	0	3475	1551	54	5	1667	5	CKAP5	11	46780912	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08	11284669	46780912	88225604	97	45885											
FNBP4	23360	broad.mit.edu	37	chr11	47739054	47739054	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaattagcatttctctCtgccatgccactgtgaaaac	12	13	5	11	0	3	1	1	1	2	0	4	1	3	1	2	0	4	1	2	0	5	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:47739054C>A	ENST00000263773.5	-	17	2986	c.2974G>T	c.(2974-2976)Gag>Tag	p.E992*		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	992										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCATTTCTCTCTGCCATGCCA	0.328													15	37					0.000308642	0.000862015	1	0	A	47739054	C	A	47739054	4	1	256	1	0	0	0	0	0	1	0	0	6012	922	32	2	83	2	FNBP4	11	47739054	Nonsense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	958142	47739054	87267462	98	45886											
OR5T3	390154	broad.mit.edu	37	chr11	56020591	56020591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accatgacatcatagtgtcaAtattttacacaattgtgatt	14	15	5	7	0	2	2	2	2	0	0	2	2	2	2	1	0	1	0	1	0	5	6			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:56020591A>G	ENST00000303059.3	+	1	916	c.916A>G	c.(916-918)Ata>Gta	p.I306V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CATAGTGTCAATATTTTACAC	0.358													14	54					0	0	0	0	G	56020591	A	G	56020591	3	3	256	1	0	0	0	0	1	0	0	0	11254	101	4	5	918	5	OR5T3	11	56020591	Missense_Mutation	SNP	A	TCGA-CV-6941-01A-11D-1912-08	8281537	56020591	78985925	99	45887											
SERPING1	710	broad.mit.edu	37	chr11	57367613	57367613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaccatccaacccacccaaCcaactacccagctcccaaca	14	3	1	23	0	0	0	0	0	0	0	2	0	2	0	8	0	6	1	8	0	5	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:57367613C>A	ENST00000403558.1	+	2	781	c.415C>A	c.(415-417)Cca>Aca	p.P139T	SERPING1_ENST00000278407.4_Missense_Mutation_p.P105T|SERPING1_ENST00000378323.4_Missense_Mutation_p.P110T|SERPING1_ENST00000378324.2_Missense_Mutation_p.P53T|SERPING1_ENST00000340687.6_Missense_Mutation_p.P105T	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	105					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						acccacccaaccaactaccca	0.532													18	63					3.32936e-07	9.63945e-07	1	0	A	57367613	C	A	57367613	3	1	256	1	0	0	0	0	1	0	0	0	14203	507	18	4	319	4	SERPING1	11	57367613	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	1347022	57367613	77638903	100	45888											
FAM111A	63901	broad.mit.edu	37	chr11	58920865	58920865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgtagtatcattgagtttgGctctaccatggaatccatcc	9	14	8	10	1	2	1	1	1	1	0	5	2	4	2	3	2	1	4	3	2	4	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:58920865G>C	ENST00000528737.1	+	5	4542	c.1724G>C	c.(1723-1725)gGc>gCc	p.G575A	FAM111A_ENST00000531147.1_Missense_Mutation_p.G575A|FAM111A_ENST00000361723.3_Missense_Mutation_p.G575A|FAM111A_ENST00000533703.1_Missense_Mutation_p.G575A|FAM111A_ENST00000420244.1_Missense_Mutation_p.G575A			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	575					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				ATTGAGTTTGGCTCTACCATG	0.403													56	79					0	0	0	0	C	58920865	G	C	58920865	3	2	256	1	0	0	0	0	1	0	0	0	5440	1203	42	4	1730	4	FAM111A	11	58920865	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	1553252	58920865	76085651	101	45889											
RPS6KA4	8986	broad.mit.edu	37	chr11	64137240	64137240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcgggttcgcgcggttgCggccgcagagtcccggggtg	3	8	18	12	7	0	1	0	0	0	1	3	1	1	1	2	5	1	3	2	5	0	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:64137240C>T	ENST00000528057.1	+	14	1739	c.1651C>T	c.(1651-1653)Cgg>Tgg	p.R551W	RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R558W	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	558	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CGCGCGGTTGCGGCCGCAGAG	0.692													9	14					0	0	0	0	T	64137240	C	T	64137240	3	4	256	1	0	0	0	0	1	0	0	0	13738	759	27	1	1726	1	RPS6KA4	11	64137240	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	5216375	64137240	70869276	102	45890											
MYO7A	4647	broad.mit.edu	37	chr11	76891461	76891461	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaatgcggctggcggaGgaagagaagcttcggaagga	14	4	18	5	3	0	2	0	0	0	2	1	8	0	6	0	6	2	2	0	6	5	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:76891461G>A	ENST00000409709.3	+	22	2900	c.2628G>A	c.(2626-2628)gaG>gaA	p.E876E	MYO7A_ENST00000409893.1_Silent_p.E876E|MYO7A_ENST00000409619.2_Silent_p.E865E|MYO7A_ENST00000458637.2_Silent_p.E876E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	876					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGCTGGCGGAGGAAGAGAAGC	0.587													5	8					0	0	0	0	A	76891461	G	A	76891461	2	1	256	1	0	0	0	0	0	0	0	1	10152	991	35	4		4	MYO7A	11	76891461	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08	12754221	76891461	58115055	103	45891											
CARD17	440068	broad.mit.edu	37	chr11	104970094	104970094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaaaaacagcattacctagGaaggaagtactatttgagaa	18	10	8	5	0	0	1	0	1	0	1	0	4	0	3	1	2	4	2	1	2	10	6			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:104970094G>A	ENST00000375707.1	-	3	345	c.329C>T	c.(328-330)tCc>tTc	p.S110F	CASP1_ENST00000415981.2_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000598974.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001007232.1	NP_001007233.1			caspase recruitment domain family, member 17											breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						CATTACCTAGGAAGGAAGTAC	0.388													23	32					0	0	0	0	A	104970094	G	A	104970094	3	1	256	1	0	0	0	0	1	0	0	0	2673	1174	41	2	7	2	CARD17	11	104970094	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	28078633	104970094	30036422	104	45892											
CD163L1	283316	broad.mit.edu	37	chr12	7548986	7548986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggttgctgccgcccacCagcctcaggccccatgttgc	5	7	11	18	2	1	0	1	0	0	0	1	0	1	0	6	2	5	3	6	2	0	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:7548986C>T	ENST00000313599.3	-	8	1812	c.1755G>A	c.(1753-1755)ctG>ctA	p.L585L	CD163L1_ENST00000396630.1_Silent_p.L585L|CD163L1_ENST00000416109.2_Silent_p.L595L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	585	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCCGCCCACCAGCCTCAGGC	0.522													10	14					0	0	0	0	T	7548986	C	T	7548986	2	4	256	1	0	0	0	0	0	0	0	1	2997	581	21	4		4	CD163L1	12	7548986	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08		7548986	126302909	105	45893											
GRIN2B	2904	broad.mit.edu	37	chr12	13828794	13828794	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgacattgatcagatacCtgtaaagataaaataaaagg	20	9	8	4	0	1	4	1	2	0	2	1	4	1	4	1	1	1	1	1	1	8	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:13828794C>T	ENST00000279593.3	-	4	1220		c.e4-1			NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATCAGATACCTGTAAAGATA	0.408													28	58					0	0	0	0	T	13828794	C	T	13828794	5	4	256	1	0	0	0	0	0	0	1	0	6830	695	24	4	3484	4	GRIN2B	12	13828794	Splice_Site	SNP	C	TCGA-CV-6941-01A-11D-1912-08	6279808	13828794	120023101	106	45894											
ENDOU	8909	broad.mit.edu	37	chr12	48104564	48104564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgcaagagccctcatgccCctttctggctcgaagttcta	7	11	8	15	2	3	1	1	0	2	1	5	2	3	1	3	1	2	3	3	1	3	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:48104564C>T	ENST00000542202.1	-	6	860	c.409G>A	c.(409-411)Ggg>Agg	p.G137R	ENDOU_ENST00000229003.3_3'UTR|ENDOU_ENST00000422538.3_3'UTR|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000545824.2_3'UTR			P21128	ENDOU_HUMAN	endonuclease, polyU-specific	0					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CCCTCATGCCCCTTTCTGGCT	0.493													33	66					0	0	0	0	T	48104564	C	T	48104564	3	4	256	1	0	0	0	0	1	0	0	0	5154	638	22	4		4	ENDOU	12	48104564	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	34275770	48104564	85747331	107	45895											
SLC11A2	4891	broad.mit.edu	37	chr12	51384679	51384679	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaaccactacaaagtacaTattgatggaacagatgataa	20	9	6	6	0	0	3	0	2	0	1	0	4	0	4	1	1	4	1	1	1	8	6			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:51384679T>A	ENST00000394904.3	-	15	1610	c.1561A>T	c.(1561-1563)Atg>Ttg	p.M521L	SLC11A2_ENST00000546743.1_Missense_Mutation_p.M413L|SLC11A2_ENST00000547688.1_Missense_Mutation_p.M521L|SLC11A2_ENST00000541174.2_Missense_Mutation_p.M492L|SLC11A2_ENST00000547198.1_Missense_Mutation_p.M492L|SLC11A2_ENST00000545993.2_Missense_Mutation_p.M488L|SLC11A2_ENST00000262051.7_Missense_Mutation_p.M492L|SLC11A2_ENST00000262052.5_Missense_Mutation_p.M492L	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	492					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						ACAAAGTACATATTGATGGAA	0.468													22	22					0	0	0	0	A	51384679	T	A	51384679	3	1	256	1	0	0	0	0	1	0	0	0	14469	1406	49	5	301	5	SLC11A2	12	51384679	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08	3280115	51384679	82467216	108	45896											
KRT72	140807	broad.mit.edu	37	chr12	52992876	52992876	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtctctagcacctgattCtgctgctccaggaaccgcac	7	11	9	14	1	2	1	0	1	2	0	4	2	3	2	3	2	4	4	3	2	2	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:52992876C>T	ENST00000293745.2	-	2	532	c.447G>A	c.(445-447)caG>caA	p.Q149Q	KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000354310.4_Silent_p.Q149Q|KRT72_ENST00000537672.2_Silent_p.Q149Q	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	149	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCACCTGATTCTGCTGCTCCA	0.547													16	51					0	0	0	0	T	52992876	C	T	52992876	2	4	256	1	0	0	0	0	0	0	0	1	8537	912	32	2		2	KRT72	12	52992876	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08	1608197	52992876	80859019	109	45897											
XPOT	11260	broad.mit.edu	37	chr12	64818925	64818925	+	Frame_Shift_Del	DEL	T	T	-																															tgctcacttctcaggtgatgTttcaaaagctagtgctttgc																										TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:64818925delT	ENST00000332707.5	+	13	1944	c.1415delT	c.(1414-1416)gtfs	p.V472fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	472	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TCAGGTGATGTTTCAAAAGCT	0.383													55	92	---	---	---	---					-	64818925	T	-	64818925	7	5	256	1	0	1	0	1	0	0	0	0	17546	1725	60	0	1461	0	XPOT	12	64818925	Frame_Shift_Del	DEL	T	TCGA-CV-6941-01A-11D-1912-08	11826049	64818925	69032970	110	45898											
RAB3IP	117177	broad.mit.edu	37	chr12	70194071	70194071	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctttcttagacaaaaTctaccaggaagatatctttc	12	14	6	9	0	3	2	0	0	3	2	5	3	4	3	2	1	1	0	2	1	6	5			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:70194071T>A	ENST00000550536.1	+	7	1476	c.1019T>A	c.(1018-1020)aTc>aAc	p.I340N	RAB3IP_ENST00000551641.1_Missense_Mutation_p.I118N|RAB3IP_ENST00000325555.9_Missense_Mutation_p.I118N|RAB3IP_ENST00000362025.5_Missense_Mutation_p.I340N|RAB3IP_ENST00000550847.1_Missense_Mutation_p.I31N|RAB3IP_ENST00000247833.7_Missense_Mutation_p.I324N|RAB3IP_ENST00000483530.2_Missense_Mutation_p.I324N|RAB3IP_ENST00000553099.1_Missense_Mutation_p.I118N	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	340					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TTAGACAAAATCTACCAGGAA	0.343													7	24					0	0	0	0	A	70194071	T	A	70194071	3	1	256	1	0	0	0	0	1	0	0	0	13020	1435	50	5	1045	5	RAB3IP	12	70194071	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08	5375146	70194071	63657824	111	45899											
ANO4	121601	broad.mit.edu	37	chr12	101510520	101510520	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctgactttgagaaccgAtctgagcctgaatctgatgg	10	13	10	8	1	3	5	0	5	3	1	3	7	3	5	2	1	2	0	2	1	2	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:101510520A>C	ENST00000392979.3	+	24	2770	c.2409A>C	c.(2407-2409)cgA>cgC	p.R803R	ANO4_ENST00000392977.3_Silent_p.R838R|ANO4_ENST00000299222.9_Silent_p.R358R|ANO4_ENST00000550015.1_Silent_p.R358R	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	838						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTGAGAACCGATCTGAGCCTG	0.507										HNSCC(74;0.22)			21	85					0	0	0	0	C	101510520	A	C	101510520	2	2	256	1	0	0	0	0	0	0	0	1	698	320	12	5		5	ANO4	12	101510520	Silent	SNP	A	TCGA-CV-6941-01A-11D-1912-08	31316449	101510520	32341375	112	45900											
MYBPC1	4604	broad.mit.edu	37	chr12	102069094	102069094	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtccaccccaaattgTgaagattgaggatgtctggg	10	10	12	9	0	1	3	0	2	1	1	3	4	3	4	4	3	0	0	4	3	2	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:102069094T>C	ENST00000549145.1	+	26	2952	c.2852T>C	c.(2851-2853)gTg>gCg	p.V951A	MYBPC1_ENST00000392934.3_Missense_Mutation_p.V907A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.V908A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.V945A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.V945A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.V938A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.V938A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.V920A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.V894A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.V901A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.V938A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.V938A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.V906A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.V821A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.V920A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	938	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						CCCCAAATTGTGAAGATTGAG	0.448													9	31					0	0	0	0	C	102069094	T	C	102069094	3	2	256	1	0	0	0	0	1	0	0	0	10081	1696	59	5	2994	5	MYBPC1	12	102069094	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08	558574	102069094	31782801	113	45901											
CCDC64	92558	broad.mit.edu	37	chr12	120502659	120502659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgggtgctaatcctggagagGcagggccatgacaaggacct	10	6	15	10	1	0	2	0	1	0	1	1	4	1	3	3	5	1	2	3	5	2	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:120502659G>T	ENST00000397558.2	+	4	885	c.885G>T	c.(883-885)agG>agT	p.R295S	CCDC64_ENST00000446727.2_Missense_Mutation_p.R39S	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	295					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTGGAGAGGCAGGGCCATG	0.547													56	91					1.93748e-29	5.95237e-29	1	0	T	120502659	G	T	120502659	3	4	256	1	0	0	0	0	1	0	0	0	2862	1194	42	4	899	4	CCDC64	12	120502659	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	18433565	120502659	13349236	114	45902											
TUBGCP3	10426	broad.mit.edu	37	chr13	113200121	113200121	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccagagaccgcatgtaCgggtctcctgtttttgtgta	7	13	11	10	2	1	1	0	0	1	1	2	2	1	1	3	1	2	5	3	1	2	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr13:113200121C>T	ENST00000261965.3	-	11	1413	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	TUBGCP3_ENST00000375669.3_Silent_p.P409P|TUBGCP3_ENST00000462580.1_5'UTR	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	409					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					ACCGCATGTACGGGTCTCCTG	0.502													54	45					0	0	0	0	T	113200121	C	T	113200121	2	4	256	1	0	0	0	0	0	0	0	1	16863	523	19	1		1	TUBGCP3	13	113200121	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08		113200121	1969757	115	45903											
ACTN1	87	broad.mit.edu	37	chr14	69345238	69345238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccatcatgcctgtcttCttctgtggggggcagtggta	4	14	14	9	0	4	0	1	0	3	0	5	0	5	0	2	4	1	2	2	4	1	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr14:69345238C>A	ENST00000394419.4	-	20	2546	c.2364G>T	c.(2362-2364)aaG>aaT	p.K788N	ACTN1_ENST00000376839.3_Missense_Mutation_p.K696N|ACTN1_ENST00000193403.6_Intron|ACTN1_ENST00000438964.2_Missense_Mutation_p.K761N|ACTN1_ENST00000538545.2_Missense_Mutation_p.K761N	NM_001130004.1	NP_001123476.1	P12814	ACTN1_HUMAN	actinin, alpha 1	787	EF-hand 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)		TGCCTGTCTTCTTCTGTGGGG	0.587													19	14					1.01871e-10	2.99653e-10	1	0	A	69345238	C	A	69345238	3	1	256	1	0	0	0	0	1	0	0	0	204	912	32	2	392	2	ACTN1	14	69345238	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08		69345238	38004302	116	45904											
TSHR	7253	broad.mit.edu	37	chr14	81610331	81610331	+	Nonsense_Mutation	SNP	T	T	A																															atggccccaatctcattctaTgctctgtcagcaattctgaa																										TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr14:81610331T>A	ENST00000541158.2	+	11	2251	c.1929T>A	c.(1927-1929)taT>taA	p.Y643*	TSHR_ENST00000298171.2_Nonsense_Mutation_p.Y643*|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	643					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCTCATTCTATGCTCTGTCAG	0.458			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						56	98					0	0	0	0	A	81610331	T	A	81610331	4	1	256	1	0	0	0	0	0	1	0	0	16717	1471	51	5	2104	5	TSHR	14	81610331	Nonsense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08	12265093	81610331	25739209	117	45905	347	2									
TSHR	7253	broad.mit.edu	37	chr14	81610332	81610332	+	Missense_Mutation	SNP	G	G	T																															tggccccaatctcattctatGctctgtcagcaattctgaac																										TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr14:81610332G>T	ENST00000541158.2	+	11	2252	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S	TSHR_ENST00000298171.2_Missense_Mutation_p.A644S|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	644					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTCATTCTATGCTCTGTCAGC	0.458			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						58	98					1.61742e-36	5.02489e-36	1	0	T	81610332	G	T	81610332	3	4	256	1	0	0	0	0	1	0	0	0	16717	1319	46	4	2105	4	TSHR	14	81610332	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	1	81610332	25739208	118	45906	347	2									
CLMN	79789	broad.mit.edu	37	chr14	95660246	95660246	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttcctcaactgaacatagCtaaaatgatcctacagtgaa	15	10	6	10	1	1	3	1	3	0	0	3	3	3	3	2	0	4	2	2	0	7	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr14:95660246C>G	ENST00000298912.4	-	12	2893	c.2780G>C	c.(2779-2781)aGc>aCc	p.S927T	CLMN_ENST00000556441.1_5'UTR|CLMN_ENST00000557215.1_5'UTR	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	927						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTGAACATAGCTAAAATGATC	0.378													7	50					0	0	0	0	G	95660246	C	G	95660246	3	3	256	1	0	0	0	0	1	0	0	0	3572	797	28	4	236	4	CLMN	14	95660246	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	14049914	95660246	11689294	119	45907											
GABRG3	2567	broad.mit.edu	37	chr15	27572157	27572157	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggatttggaatgacgggAaaatcctttacactttgagg	11	12	11	7	2	0	2	0	2	0	0	2	5	2	5	2	4	1	0	2	4	4	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:27572157A>T	ENST00000333743.6	+	4	726	c.472A>T	c.(472-474)Aaa>Taa	p.K158*	GABRG3_ENST00000555083.1_Nonsense_Mutation_p.K158*	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	158					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GAATGACGGGAAAATCCTTTA	0.443													13	16					0	0	0	0	T	27572157	A	T	27572157	4	4	256	1	0	0	0	0	0	1	0	0	6221	247	9	5	486	5	GABRG3	15	27572157	Nonsense_Mutation	SNP	A	TCGA-CV-6941-01A-11D-1912-08		27572157	74959235	120	45908											
HERC2	8924	broad.mit.edu	37	chr15	28357012	28357012	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcggctggctctcctgtaAgtgcgatgcgagcgtagtca	6	9	15	11	5	2	0	1	0	1	0	3	2	2	0	1	3	3	4	1	3	2	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:28357012A>C	ENST00000261609.7	-	93	14510	c.14402T>G	c.(14401-14403)cTt>cGt	p.L4801R		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4801					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCTCCTGTAAGTGCGATGCG	0.527													23	53					0	0	0	0	C	28357012	A	C	28357012	3	2	256	1	0	0	0	0	1	0	0	0	7108	72	3	5	106	5	HERC2	15	28357012	Missense_Mutation	SNP	A	TCGA-CV-6941-01A-11D-1912-08	784855	28357012	74174380	121	45909											
ACSBG1	23205	broad.mit.edu	37	chr15	78472020	78472020	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgccatcatgggggcCgctccatagaagttcttttg	6	13	11	11	1	3	1	1	0	2	1	5	1	4	1	3	2	1	2	3	2	2	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:78472020C>T	ENST00000258873.4	-	10	1561	c.1356G>A	c.(1354-1356)gcG>gcA	p.A452A	ACSBG1_ENST00000560817.1_Silent_p.A210A|ACSBG1_ENST00000541759.1_Silent_p.A210A	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	452					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	p.A452A(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCATGGGGGCCGCTCCATAGA	0.557													10	52					0	0	0	0	T	78472020	C	T	78472020	2	4	256	1	0	0	0	0	0	0	0	1	173	639	23	1		1	ACSBG1	15	78472020	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08	50115008	78472020	24059372	122	45910											
KLHL25	64410	broad.mit.edu	37	chr15	86311556	86311556	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtgtcacctcccatgaTgaagatctggctgcccagga	8	10	10	13	1	2	3	1	2	1	1	4	4	4	4	4	2	1	1	4	2	1	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:86311556T>A	ENST00000337975.5	-	2	1760	c.1486A>T	c.(1486-1488)Atc>Ttc	p.I496F	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.I496F	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	496						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCTCCCATGATGAAGATCTGG	0.617													38	61					0	0	0	0	A	86311556	T	A	86311556	3	1	256	1	0	0	0	0	1	0	0	0	8432	1464	51	5	287	5	KLHL25	15	86311556	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08	7839536	86311556	16219836	123	45911											
RHOT2	89941	broad.mit.edu	37	chr16	721109	721109	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctgaacacgctcttcAtccagcgcggccggcacgag	7	8	10	16	5	3	1	1	1	2	0	5	2	5	1	3	2	2	2	3	2	1	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:721109A>G	ENST00000315082.4	+	11	889	c.775A>G	c.(775-777)Atc>Gtc	p.I259V		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	259					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CACGCTCTTCATCCAGCGCGG	0.657													19	45					0	0	0	0	G	721109	A	G	721109	3	3	256	1	0	0	0	0	1	0	0	0	13427	217	8	5	817	5	RHOT2	16	721109	Missense_Mutation	SNP	A	TCGA-CV-6941-01A-11D-1912-08		721109	89633644	124	45912											
SOX8	30812	broad.mit.edu	37	chr16	1035026	1035026	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgtcggcctccgcgtcGcccaccgagacgggtccccc	3	4	12	22	7	0	1	0	0	0	1	4	2	2	1	8	2	0	0	8	2	0	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:1035026G>A	ENST00000293894.3	+	3	1096	c.981G>A	c.(979-981)tcG>tcA	p.S327S		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	327					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCTCCGCGTCGCCCACCGAGA	0.756													5	7					0	0	0	0	A	1035026	G	A	1035026	2	1	256	1	0	0	0	0	0	0	0	1	15045	1074	38	1		1	SOX8	16	1035026	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08	313917	1035026	89319727	125	45913											
ZNF205	7755	broad.mit.edu	37	chr16	3169975	3169975	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctcggcgctagtcacccaCcagcgcacccacactggggt	8	5	11	17	3	1	0	1	0	0	0	2	0	1	0	3	3	2	3	3	3	1	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:3169975C>T	ENST00000382192.3	+	7	1519	c.1314C>T	c.(1312-1314)caC>caT	p.H438H	ZNF205_ENST00000219091.4_Silent_p.H438H|RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						TAGTCACCCACCAGCGCACCC	0.657													21	59					0	0	0	0	T	3169975	C	T	3169975	2	4	256	1	0	0	0	0	0	0	0	1	17859	506	18	4		4	ZNF205	16	3169975	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08	2134949	3169975	87184778	126	45914											
ZNF764	92595	broad.mit.edu	37	chr16	30567359	30567359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagcccaggagacccggcgGccacagggtcgggcttctcc	6	5	14	16	3	2	1	1	0	1	1	4	2	2	1	4	5	1	1	4	5	0	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:30567359G>A	ENST00000395091.2	-	3	695	c.380C>T	c.(379-381)gCc>gTc	p.A127V	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.A128V			Q96H86	ZN764_HUMAN	zinc finger protein 764	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						AGACCCGGCGGCCACAGGGTC	0.632													14	83					0	0	0	0	A	30567359	G	A	30567359	3	1	256	1	0	0	0	0	1	0	0	0	18232	1203	42	4	847	4	ZNF764	16	30567359	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	27397384	30567359	59787394	127	45915											
PRR14	78994	broad.mit.edu	37	chr16	30667619	30667619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagtagatcgggagcagcCccactggacctaggtgcccc	10	5	12	14	1	0	1	0	0	0	1	1	3	0	3	5	3	4	2	5	3	3	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:30667619C>T	ENST00000542965.2	+	11	2201	c.1745C>T	c.(1744-1746)cCc>cTc	p.P582L	PRR14_ENST00000300835.4_Missense_Mutation_p.P582L			Q9BWN1	PRR14_HUMAN	proline rich 14	582										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CGGGAGCAGCCCCACTGGACC	0.537													10	65					0	0	0	0	T	30667619	C	T	30667619	3	4	256	1	0	0	0	0	1	0	0	0	12666	623	22	4	1787	4	PRR14	16	30667619	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	100260	30667619	59687134	128	45916											
SPG7	6687	broad.mit.edu	37	chr16	89619494	89619494	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgagcggatgtgcatggcCctgggaggacgggcctcgga	6	8	18	9	3	0	1	0	1	0	0	1	5	0	5	2	6	2	1	2	6	0	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:89619494C>T	ENST00000268704.2	+	14	1902	c.1887C>T	c.(1885-1887)gcC>gcT	p.A629A		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	629					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGTGCATGGCCCTGGGAGGAC	0.622													4	6					0	0	0	0	T	89619494	C	T	89619494	2	4	256	1	0	0	0	0	0	0	0	1	15134	610	22	4		4	SPG7	16	89619494	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08	58951875	89619494	735259	129	45917											
TP53	7157	broad.mit.edu	37	chr17	7578384	7578401	+	In_Frame_Del	DEL	GCAGCGCTCATGGTGGGG	GCAGCGCTCATGGTGGGG	-																															tgctcaccatcgctatctgaGcagcgctcatggtgggggca																								rs68130327	by1000genomes	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG	ENST00000420246.2	-	5	661_678	c.529_546delCCCCACCATGAGCGCTGC	c.(529-546)del	p.PHHERC177del	TP53_ENST00000455263.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000445888.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000269305.4_In_Frame_Del_p.PHHERC177del|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000359597.4_In_Frame_Del_p.PHHERC177del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179Y(98)|p.H179L(43)|p.H179Q(23)|p.R181H(21)|p.R181C(19)|p.P177R(18)|p.P177L(17)|p.H178fs*69(16)|p.H179N(16)|p.E180*(14)|p.R181P(14)|p.H179D(13)|p.P177P(10)|p.P177_C182delPHHERC(8)|p.C182S(8)|p.P177S(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.E180D(6)|p.H47Y(6)|p.H178P(6)|p.H86Y(6)|p.E180K(5)|p.H178fs*3(5)|p.H178Q(5)|p.C182*(5)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.P177H(3)|p.H178N(3)|p.R175_E180delRCPHHE(3)|p.R181L(3)|p.R174fs*24(3)|p.H179fs*68(2)|p.H179H(2)|p.H47Q(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.P177fs*3(2)|p.C182R(2)|p.C182Y(2)|p.C182C(2)|p.R49C(2)|p.R88C(2)|p.H86R(2)|p.H86Q(2)|p.H85fs*69(2)|p.R181R(2)|p.H46fs*>45(2)|p.V173fs*59(2)|p.V173fs*69(1)|p.E180G(1)|p.E180fs*67(1)|p.E180Q(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.H178fs*6(1)|p.H47D(1)|p.R174fs*3(1)|p.H47N(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H178L(1)|p.E171fs*1(1)|p.H179del(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.E180>DGRCPHQ(1)|p.H178del(1)|p.E48D(1)|p.E180_S183del(1)|p.P177T(1)|p.R49P(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R175_H178>X(1)|p.C176_P177delCP(1)|p.P177fs*69(1)|p.R42fs*24(1)|p.R88P(1)|p.C182fs*4(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.C182fs*65(1)|p.E87D(1)|p.H85_S90delHHERCS(1)|p.H86D(1)|p.H86N(1)|p.C176fs*65(1)|p.R181G(1)|p.C176fs*68(1)|p.R174_H178>S(1)|p.H46D(1)|p.R181>XXXXXXX(1)|p.H178_H179>QY(1)|p.H85D(1)|p.?(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.P84R(1)|p.P177_H179delPHH(1)|p.E180fs*6(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTC	0.638		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	29	---	---	---	---					-	7578401	GCAGCGCTCATGGTGGGG	-	7578384	7	5	256	1	0	1	0	1	0	0	0	0	16476	963	34	0	752	0	TP53	17	7578384	In_Frame_Del	DEL	GCAGCGCTCATGGTGGGG	TCGA-CV-6941-01A-11D-1912-08		7578384	73616826	130	45918											
MYH8	4626	broad.mit.edu	37	chr17	10303904	10303904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagggtggcctcctccaggtCcctgcgcagtttctgaaact	6	10	11	14	1	1	1	0	1	1	0	4	1	4	1	4	3	2	2	4	3	1	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:10303904C>G	ENST00000403437.2	-	27	3632	c.3538G>C	c.(3538-3540)Gac>Cac	p.D1180H	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1180					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCTCCAGGTCCCTGCGCAGT	0.567									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				52	109					0	0	0	0	G	10303904	C	G	10303904	3	3	256	1	0	0	0	0	1	0	0	0	10111	855	30	2	2331	2	MYH8	17	10303904	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	2725520	10303904	70891306	131	45919											
GAS2L2	246176	broad.mit.edu	37	chr17	34077222	34077222	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctccagctgcacgagTgtgggcgccgcaacaccaaa	9	6	10	16	3	0	0	0	0	0	0	3	1	3	0	5	1	3	3	5	1	2	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:34077222T>A	ENST00000254466.6	-	2	528	c.501A>T	c.(499-501)acA>acT	p.T167T	GAS2L2_ENST00000587565.1_Silent_p.T167T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	167					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTGCACGAGTGTGGGCGCCG	0.711													88	184					0	0	0	0	A	34077222	T	A	34077222	2	1	256	1	0	0	0	0	0	0	0	1	6296	1683	59	5		5	GAS2L2	17	34077222	Silent	SNP	T	TCGA-CV-6941-01A-11D-1912-08	23773318	34077222	47117988	132	45920											
KRT31	3881	broad.mit.edu	37	chr17	39553595	39553595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggtagctggccaggCggtcgttcaggaactgcata	8	9	13	11	2	2	0	1	0	1	0	4	1	2	1	2	5	3	4	2	5	3	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:39553595C>T	ENST00000251645.2	-	1	249	c.197G>A	c.(196-198)cGc>cAc	p.R66H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	66	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCTGGCCAGGCGGTCGTTCAG	0.612													41	86					0	0	0	0	T	39553595	C	T	39553595	3	4	256	1	0	0	0	0	1	0	0	0	8519	768	27	1	1081	1	KRT31	17	39553595	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	5476373	39553595	41641615	133	45921											
KIF18B	146909	broad.mit.edu	37	chr17	43004426	43004426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggcttggggcccttcatgGtgaacaggggcacaggtgcc	6	9	16	10	0	1	1	1	1	0	0	1	1	1	1	2	7	2	2	2	7	1	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:43004426G>A	ENST00000587309.1	-	14	2356	c.2333C>T	c.(2332-2334)aCc>aTc	p.T778I	KIF18B_ENST00000590129.1_Missense_Mutation_p.T787I|KIF18B_ENST00000438933.2_Missense_Mutation_p.T778I|KIF18B_ENST00000339151.4_Missense_Mutation_p.T769I|KIF18B_ENST00000593135.1_Missense_Mutation_p.T766I	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GCCCTTCATGGTGAACAGGGG	0.632													13	24					0	0	0	0	A	43004426	G	A	43004426	3	1	256	1	0	0	0	0	1	0	0	0	8332	1261	44	4	272	4	KIF18B	17	43004426	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	3450831	43004426	38190784	134	45922											
XYLT2	64132	broad.mit.edu	37	chr17	48432867	48432867	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccattccttcaccaggaccaAtgaggagctggtggcattcc	9	9	10	13	0	1	1	1	1	0	0	3	3	3	3	5	4	1	2	5	4	1	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:48432867A>G	ENST00000017003.2	+	5	1062	c.1013A>G	c.(1012-1014)aAt>aGt	p.N338S	XYLT2_ENST00000507602.1_Missense_Mutation_p.N338S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	338					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ACCAGGACCAATGAGGAGCTG	0.562													6	50					0	0	0	0	G	48432867	A	G	48432867	3	3	256	1	0	0	0	0	1	0	0	0	17560	101	4	5	1031	5	XYLT2	17	48432867	Missense_Mutation	SNP	A	TCGA-CV-6941-01A-11D-1912-08	5428441	48432867	32762343	135	45923											
VEZF1	7716	broad.mit.edu	37	chr17	56060238	56060238	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgagatggtacacatctcGgaaggccttcccacacatct	11	10	8	12	1	2	1	0	1	2	1	4	3	3	2	2	3	1	1	2	3	2	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:56060238G>A	ENST00000584396.1	-	2	611	c.523C>T	c.(523-525)Cga>Tga	p.R175*	VEZF1_ENST00000581208.1_Nonsense_Mutation_p.R184*			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	184					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TACACATCTCGGAAGGCCTTC	0.498													16	45					0	0	0	0	A	56060238	G	A	56060238	4	1	256	1	0	0	0	0	0	1	0	0	17251	1124	39	1	1035	1	VEZF1	17	56060238	Nonsense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	7627371	56060238	25134972	136	45924											
TEX14	56155	broad.mit.edu	37	chr17	56729334	56729334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taccaagttgaacaggacagGggactggaagacgaacagcc	15	4	13	9	1	0	2	0	1	0	1	0	6	0	5	2	4	4	1	2	4	5	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:56729334G>A	ENST00000389934.3	-	2	146	c.29C>T	c.(28-30)cCc>cTc	p.P10L	TEX14_ENST00000349033.5_Missense_Mutation_p.P10L|TEX14_ENST00000240361.8_Missense_Mutation_p.P10L	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	10						cytoplasm	ATP binding|protein kinase activity	p.P10H(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACAGGACAGGGGACTGGAAG	0.398													13	32					0	0	0	0	A	56729334	G	A	56729334	3	1	256	1	0	0	0	0	1	0	0	0	15872	1232	43	4	4574	4	TEX14	17	56729334	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	669096	56729334	24465876	137	45925											
TTYH2	94015	broad.mit.edu	37	chr17	72209745	72209745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccatgcaggcggcgcgcgtgGactacatcgctccctggtgg	5	7	15	14	5	0	0	0	0	0	0	2	1	1	1	2	5	2	2	2	5	1	1			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:72209745G>C	ENST00000269346.4	+	1	93	c.19G>C	c.(19-21)Gac>Cac	p.D7H		NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	7						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GGCGCGCGTGGACTACATCGC	0.736													5	14					0	0	0	0	C	72209745	G	C	72209745	3	2	256	1	0	0	0	0	1	0	0	0	16836	1174	41	2	21	2	TTYH2	17	72209745	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	15480411	72209745	8985465	138	45926											
CBX2	84733	broad.mit.edu	37	chr17	77758172	77758172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaagcaaaatcccgaaGgcccccagcggtggggctgt	10	4	14	13	2	0	0	0	0	0	0	1	2	1	1	4	5	2	2	4	5	4	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:77758172G>A	ENST00000310942.4	+	5	1034	c.930G>A	c.(928-930)aaG>aaA	p.K310K		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	310					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AAATCCCGAAGGCCCCCAGCG	0.682													6	33					0	0	0	0	A	77758172	G	A	77758172	2	1	256	1	0	0	0	0	0	0	0	1	2743	991	35	4		4	CBX2	17	77758172	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08	5548427	77758172	3437038	139	45927											
ARHGAP28	79822	broad.mit.edu	37	chr18	6837258	6837258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caactctgatctcaggtgatGaagaggaagatggcaaagcc	14	7	12	8	0	2	5	1	3	2	2	3	6	2	6	1	3	2	1	1	3	4	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr18:6837258G>A	ENST00000262227.3	+	3	3443	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	ARHGAP28_ENST00000418986.1_5'UTR|ARHGAP28_ENST00000419673.2_5'UTR|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.E130K|ARHGAP28_ENST00000531294.1_5'UTR|ARHGAP28_ENST00000314319.3_5'UTR|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.E130K			B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTCAGGTGATGAAGAGGAAGA	0.438													4	9					0	0	0	0	A	6837258	G	A	6837258	3	1	256	1	0	0	0	0	1	0	0	0	879	1305	45	2		2	ARHGAP28	18	6837258	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08		6837258	71239990	140	45928											
MC5R	4161	broad.mit.edu	37	chr18	13826243	13826243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgacggcgaggcgctcagGggccatcatcgccggcatct	7	6	14	14	5	3	1	2	1	1	0	4	2	3	1	2	5	0	2	2	5	0	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr18:13826243G>A	ENST00000324750.3	+	1	701	c.479G>A	c.(478-480)gGg>gAg	p.G160E		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	160					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AGGCGCTCAGGGGCCATCATC	0.577													128	226					0	0	0	0	A	13826243	G	A	13826243	3	1	256	1	0	0	0	0	1	0	0	0	9436	1232	43	4	481	4	MC5R	18	13826243	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	6988985	13826243	64251005	141	45929											
OSBPL1A	114876	broad.mit.edu	37	chr18	21759702	21759702	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaagtgaaaggcctcacCgcactaattcataagtctct	13	10	7	11	1	3	1	2	1	1	0	4	1	3	1	2	1	1	2	2	1	4	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr18:21759702C>T	ENST00000319481.3	-	20	2116	c.1910_splice	c.e20+1	p.R637_splice	OSBPL1A_ENST00000357041.4_Splice_Site_p.R255_splice|OSBPL1A_ENST00000399443.3_Splice_Site_p.R124_splice	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	637					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AAGGCCTCACCGCACTAATTC	0.448													5	24					0	0	0	0	T	21759702	C	T	21759702	5	4	256	1	0	0	0	0	0	0	1	0	11348	666	23	1	978	1	OSBPL1A	18	21759702	Splice_Site	SNP	C	TCGA-CV-6941-01A-11D-1912-08	7933459	21759702	56317546	142	45930											
MOCOS	55034	broad.mit.edu	37	chr18	33795646	33795646	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactggcctgtccctcaggcCcatgctgacaccggggagac	7	6	13	15	1	1	2	1	1	0	1	2	4	2	2	4	4	1	1	4	4	0	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr18:33795646C>T	ENST00000261326.5	+	8	1524	c.1503C>T	c.(1501-1503)gcC>gcT	p.A501A		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	501					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	TCCCTCAGGCCCATGCTGACA	0.567													6	15					0	0	0	0	T	33795646	C	T	33795646	2	4	256	1	0	0	0	0	0	0	0	1	9759	610	22	4		4	MOCOS	18	33795646	Silent	SNP	C	TCGA-CV-6941-01A-11D-1912-08	12035944	33795646	44281602	143	45931											
MIER2	54531	broad.mit.edu	37	chr19	312210	312210	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcggatcaccttcacgttGaaccgcagccttcgcagggc	7	8	10	16	4	2	1	2	1	0	0	4	2	2	2	4	2	2	3	4	2	1	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:312210G>A	ENST00000264819.4	-	9	880	c.870C>T	c.(868-870)ttC>ttT	p.F290F		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	290	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CCTTCACGTTGAACCGCAGCC	0.637													12	34					0	0	0	0	A	312210	G	A	312210	2	1	256	1	0	0	0	0	0	0	0	1	9650	1281	45	2		2	MIER2	19	312210	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08		312210	58816773	144	45932											
ELAVL1	1994	broad.mit.edu	37	chr19	8032636	8032636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcttctgcctccgaccGtttgtcaaaccggataaacg	8	11	8	14	4	3	0	1	0	2	0	4	2	4	1	5	1	4	1	5	1	3	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:8032636G>A	ENST00000407627.2	-	5	598	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	ELAVL1_ENST00000351593.5_Missense_Mutation_p.R184W|ELAVL1_ENST00000596459.1_Missense_Mutation_p.R157W|ELAVL1_ENST00000593807.1_Intron	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	157	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCCTCCGACCGTTTGTCAAAC	0.468													23	32					0	0	0	0	A	8032636	G	A	8032636	3	1	256	1	0	0	0	0	1	0	0	0	5087	1144	40	1	519	1	ELAVL1	19	8032636	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	7720426	8032636	51096347	145	45933											
CALR	811	broad.mit.edu	37	chr19	13054358	13054358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcatcctccaggtcaagtCtggcaccatctttgacaact	10	12	6	13	0	4	1	2	1	2	0	6	1	6	1	3	2	1	1	3	2	2	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:13054358C>T	ENST00000316448.5	+	8	1041	c.968C>T	c.(967-969)tCt>tTt	p.S323F		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	323	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGTCAAGTCTGGCACCATC	0.512													10	25					0	0	0	0	T	13054358	C	T	13054358	3	4	256	1	0	0	0	0	1	0	0	0	2617	913	32	2	998	2	CALR	19	13054358	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	5021722	13054358	46074625	146	45934											
PIK3R2	5296	broad.mit.edu	37	chr19	18278008	18278008	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagccgcacgaagctggAgcagcagctgcgggcccagg	9	3	17	12	3	0	1	0	1	0	1	0	4	0	2	2	3	6	5	2	3	1	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:18278008A>T	ENST00000593731.1	+	13	2188	c.1628A>T	c.(1627-1629)gAg>gTg	p.E543V	PIK3R2_ENST00000222254.7_Missense_Mutation_p.E543V			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	543					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						ACGAAGCTGGAGCAGCAGCTG	0.637													22	29					0	0	0	0	T	18278008	A	T	18278008	3	4	256	1	0	0	0	0	1	0	0	0	11991	304	11	5	1674	5	PIK3R2	19	18278008	Missense_Mutation	SNP	A	TCGA-CV-6941-01A-11D-1912-08	5223650	18278008	40850975	147	45935											
LGI4	163175	broad.mit.edu	37	chr19	35617874	35617874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccccttggtaggagaaggGctctacgctcagtgccgact	7	9	12	13	2	2	1	1	0	1	1	3	3	3	1	3	3	2	3	3	3	3	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:35617874G>A	ENST00000392225.3	-	7	1195	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000310123.3_Missense_Mutation_p.P226S			Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	226						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TAGGAGAAGGGCTCTACGCTC	0.647													16	16					0	0	0	0	A	35617874	G	A	35617874	3	1	256	1	0	0	0	0	1	0	0	0	8808	1203	42	4	949	4	LGI4	19	35617874	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	17339866	35617874	23511109	148	45936											
ZNF573	126231	broad.mit.edu	37	chr19	38230129	38230129	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccatacaagctaaaggccTttccgcattccttgcattca	11	11	6	13	1	1	0	1	0	0	0	3	0	3	0	4	1	4	3	4	1	4	6			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:38230129T>G	ENST00000339503.4	-	8	1589	c.1088A>C	c.(1087-1089)aAg>aCg	p.K363T	ZNF573_ENST00000392138.1_Missense_Mutation_p.K334T|ZNF573_ENST00000536220.1_Missense_Mutation_p.K333T|ZNF573_ENST00000357309.3_Missense_Mutation_p.K333T|ZNF573_ENST00000590414.2_Missense_Mutation_p.K421T	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GCTAAAGGCCTTTCCGCATTC	0.378													66	198					0	0	0	0	G	38230129	T	G	38230129	3	3	256	1	0	0	0	0	1	0	0	0	18100	1609	56	5	739	5	ZNF573	19	38230129	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08	2612255	38230129	20898854	149	45937											
ZNF814	730051	broad.mit.edu	37	chr19	58384572	58384572	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgatgtgcaatgagttggTacttgtttctaaaaaatttc	11	17	8	5	0	2	2	0	2	2	0	3	2	2	2	0	1	2	4	0	1	5	6			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:58384572T>C	ENST00000435989.2	-	3	2420	c.2186A>G	c.(2185-2187)tAc>tGc	p.Y729C	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	729					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGAGTTGGTACTTGTTTCT	0.378													4	8					0	0	0	0	C	58384572	T	C	58384572	3	2	256	1	0	0	0	0	1	0	0	0	18269	1638	57	5	385	5	ZNF814	19	58384572	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08	20154443	58384572	744411	150	45938											
SIRPB1	10326	broad.mit.edu	37	chr20	1551507	1551507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagatctccagggcatagCttttgctgactgcttgctgc	6	13	11	11	0	1	2	0	2	1	1	2	3	1	2	1	1	5	5	1	1	1	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr20:1551507C>T	ENST00000381605.4	-	4	1092	c.1028G>A	c.(1027-1029)aGc>aAc	p.S343N	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	343	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CAGGGCATAGCTTTTGCTGAC	0.512													31	125					0	0	0	0	T	1551507	C	T	1551507	3	4	256	1	0	0	0	0	1	0	0	0	14421	797	28	4	176	4	SIRPB1	20	1551507	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08		1551507	61474013	151	45939											
TGM3	7053	broad.mit.edu	37	chr20	2315841	2315841	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatgatccggatcacagcGgtgtgcaaggtcccagatga	12	7	12	10	2	1	3	1	2	0	1	3	4	3	4	2	3	3	1	2	3	2	0			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr20:2315841G>A	ENST00000381458.5	+	11	1785	c.1722G>A	c.(1720-1722)gcG>gcA	p.A574A		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	574					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGATCACAGCGGTGTGCAAGG	0.552													34	42					0	0	0	0	A	2315841	G	A	2315841	2	1	256	1	0	0	0	0	0	0	0	1	15925	1103	39	1		1	TGM3	20	2315841	Silent	SNP	G	TCGA-CV-6941-01A-11D-1912-08	764334	2315841	60709679	152	45940											
PLCB1	23236	broad.mit.edu	37	chr20	8709798	8709798	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcaggttgtcagatggTggcacttaatttccagacaa	12	11	11	7	0	1	2	1	0	0	2	2	3	2	2	1	3	1	3	1	3	3	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr20:8709798T>C	ENST00000378641.3	+	18	2340	c.1865T>C	c.(1864-1866)gTg>gCg	p.V622A	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.V622A|PLCB1_ENST00000378637.2_Missense_Mutation_p.V622A	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	622	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGTCAGATGGTGGCACTTAAT	0.413													11	48					0	0	0	0	C	8709798	T	C	8709798	3	2	256	1	0	0	0	0	1	0	0	0	12099	1696	59	5	1935	5	PLCB1	20	8709798	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08	6393957	8709798	54315722	153	45941											
U2AF1	7307	broad.mit.edu	37	chr21	44521539	44521539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagatgttttgaatcaagaTggtctgcggggaaaaaaaaa	17	10	11	3	1	2	3	1	1	1	2	2	4	2	4	0	3	1	1	0	3	7	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr21:44521539T>C	ENST00000380276.2	-	3	206	c.136A>G	c.(136-138)Atc>Gtc	p.I46V	U2AF1_ENST00000486519.1_Intron|U2AF1_ENST00000459639.1_Intron|U2AF1_ENST00000291552.4_Intron|U2AF1_ENST00000398137.1_5'UTR	NM_001025203.1	NP_001020374.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	46					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						TGAATCAAGATGGTCTGCGGG	0.388			Mis		"CLL, MDS"								134	107					0	0	0	0	C	44521539	T	C	44521539	3	2	256	1	0	0	0	0	1	0	0	0	16917	1464	51	5	681	5	U2AF1	21	44521539	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08		44521539	3608356	154	45942											
TAB1	10454	broad.mit.edu	37	chr22	39832515	39832515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccttccaggcctgcaaGcgatttgacagccatccctc	9	8	8	16	1	0	2	0	1	0	1	3	3	2	2	5	1	3	1	5	1	1	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr22:39832515G>A	ENST00000331454.3	+	11	1347	c.1328G>A	c.(1327-1329)aGc>aAc	p.S443N	TAB1_ENST00000488859.1_3'UTR	NM_153497.2	NP_705717.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	0					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						AGGCCTGCAAGCGATTTGACA	0.527													9	104					0	0	0	0	A	39832515	G	A	39832515	3	1	256	1	0	0	0	0	1	0	0	0	15586	971	34	4	1582	4	TAB1	22	39832515	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08		39832515	11472051	155	45943											
ATF4	468	broad.mit.edu	37	chr22	39917879	39917879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgacctggaaaccatgccaGatgaccttctgaccacgttg	11	9	9	12	1	1	4	0	3	1	1	1	5	1	5	5	1	2	1	5	1	1	2			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr22:39917879G>A	ENST00000337304.2	+	2	1210	c.328G>A	c.(328-330)Gat>Aat	p.D110N	ATF4_ENST00000404241.2_Missense_Mutation_p.D110N|ATF4_ENST00000396680.1_Missense_Mutation_p.D110N	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	110					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					AACCATGCCAGATGACCTTCT	0.517													47	211					0	0	0	0	A	39917879	G	A	39917879	3	1	256	1	0	0	0	0	1	0	0	0	1086	942	33	2	334	2	ATF4	22	39917879	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	85364	39917879	11386687	156	45944											
KLHL15	80311	broad.mit.edu	37	chrX	24006507	24006507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctatggtcccttctttgCtggggtcaaacacgcacact	7	13	9	12	1	3	0	1	0	2	0	4	0	4	0	1	3	2	3	1	3	2	4			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:24006507C>T	ENST00000328046.8	-	4	1601	c.1346G>A	c.(1345-1347)aGc>aAc	p.S449N		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	449										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CCCTTCTTTGCTGGGGTCAAA	0.458													44	30					0	0	0	0	T	24006507	C	T	24006507	3	4	256	1	0	0	0	0	1	0	0	0	8423	797	28	4	472	4	KLHL15	23	24006507	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08		24006507	131264053	157	45945											
ABCB7	22	broad.mit.edu	37	chrX	74334622	74334622	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaactgtcctgaattgccTtttcccaatctctgccatgt	9	14	6	12	0	1	2	0	1	1	1	4	2	3	2	4	0	3	0	4	0	4	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:74334622T>A	ENST00000253577.3	-	2	240	c.216A>T	c.(214-216)aaA>aaT	p.K72N	ABCB7_ENST00000373394.3_Missense_Mutation_p.K71N|ABCB7_ENST00000339447.4_Missense_Mutation_p.K71N	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	71					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CTGAATTGCCTTTTCCCAATC	0.388													16	8					0	0	0	0	A	74334622	T	A	74334622	3	1	256	1	0	0	0	0	1	0	0	0	46	1606	56	5	2105	5	ABCB7	23	74334622	Missense_Mutation	SNP	T	TCGA-CV-6941-01A-11D-1912-08	50328115	74334622	80935938	158	45946											
DRP2	1821	broad.mit.edu	37	chrX	100497390	100497390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcccaccaacttgccatttCtgatgtgcacttgtcaatgg	8	12	9	12	0	2	1	1	1	1	0	2	1	2	1	3	2	3	1	3	2	2	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:100497390C>G	ENST00000395209.3	+	8	1432	c.905C>G	c.(904-906)tCt>tGt	p.S302C	DRP2_ENST00000402866.1_Missense_Mutation_p.S302C|DRP2_ENST00000541709.1_Missense_Mutation_p.S224C|DRP2_ENST00000538510.1_Missense_Mutation_p.S302C	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	302					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CTTGCCATTTCTGATGTGCAC	0.498													93	43					0	0	0	0	G	100497390	C	G	100497390	3	3	256	1	0	0	0	0	1	0	0	0	4800	913	32	2	927	2	DRP2	23	100497390	Missense_Mutation	SNP	C	TCGA-CV-6941-01A-11D-1912-08	26162768	100497390	54773170	159	45947											
AFF2	2334	broad.mit.edu	37	chrX	147733537	147733537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtcactatgaacaagaccGtagtgcacttaaaaaaaggg	17	7	9	8	1	1	2	1	1	0	1	1	2	1	2	1	1	2	2	1	1	8	3			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:147733537G>T	ENST00000370460.2	+	2	544	c.65G>T	c.(64-66)cGt>cTt	p.R22L	AFF2_ENST00000342251.3_Missense_Mutation_p.R22L|AFF2_ENST00000370457.5_Missense_Mutation_p.R22L|AFF2_ENST00000370458.1_Missense_Mutation_p.R22L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	22					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAACAAGACCGTAGTGCACTT	0.363													68	31					3.61678e-42	1.12999e-41	1	0	T	147733537	G	T	147733537	3	4	256	1	0	0	0	0	1	0	0	0	357	1145	40	3	71	3	AFF2	23	147733537	Missense_Mutation	SNP	G	TCGA-CV-6941-01A-11D-1912-08	47236147	147733537	7537023	160	45948											
ATAD3A	55210	broad.mit.edu	37	chr1	1463191	1463192	+	Frame_Shift_Ins	INS	-	-	G																															gaggaacgggagcgcctggtINSgagaatgtattttgacaagt																										TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:1463191_1463192insG	ENST00000378755.5	+	14	1692_1693	c.1598_1599insG	c.(1597-1599)gagfs	p.E533fs	ATAD3A_ENST00000378756.3_Frame_Shift_Ins_p.E485fs|ATAD3A_ENST00000536055.1_Frame_Shift_Ins_p.E406fs	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	533							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GAGCGCCTGGTGAGAATGTATT	0.589													24	121	---	---	---	---					G	1463192	-	G	1463191	7	5	257	1	0	1	1	0	0	0	0	0	1077	1696	59	0	1652	0	ATAD3A	1	1463191	Frame_Shift_Ins	INS	-	TCGA-CV-6942-01A-21D-2012-08		1463191	247787430	1	45949											
VPS13D	55187	broad.mit.edu	37	chr1	12336511	12336511	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagtcgcagctcctcCtggcggaatttaaagtgaac	9	10	13	9	2	0	1	0	1	0	0	3	3	2	3	2	4	2	2	2	4	4	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:12336511C>T	ENST00000358136.3	+	19	2996	c.2866C>T	c.(2866-2868)Ctg>Ttg	p.L956L	VPS13D_ENST00000356315.4_Silent_p.L956L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	956					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCAGCTCCTCCTGGCGGAATT	0.498											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	57					0	0	0	0	T	12336511	C	T	12336511	2	4	257	1	0	0	0	0	0	0	0	1	17288	680	24	4		4	VPS13D	1	12336511	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	10873320	12336511	236914110	2	45950											
SPEN	23013	broad.mit.edu	37	chr1	16262721	16262721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cactcagtttcccgccgcttCctctgttggcctgccttccc	2	13	7	19	2	2	0	1	0	1	0	5	0	5	0	6	1	1	3	6	1	0	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:16262721C>T	ENST00000375759.3	+	11	10190	c.9986C>T	c.(9985-9987)tCc>tTc	p.S3329F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3329	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCGCCGCTTCCTCTGTTGGC	0.632													7	57					0	0	0	0	T	16262721	C	T	16262721	3	4	257	1	0	0	0	0	1	0	0	0	15128	855	30	2	10028	2	SPEN	1	16262721	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	3926210	16262721	232987900	3	45951											
MACF1	23499	broad.mit.edu	37	chr1	39826464	39826464	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcatggcctgatttttcaGattccatactcagccacttc	8	16	5	12	0	3	2	3	1	0	1	5	2	4	2	3	1	2	0	3	1	1	6			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:39826464G>C	ENST00000564288.1	+	48	13021		c.e48-1		MACF1_ENST00000539005.1_Splice_Site|MACF1_ENST00000372915.3_Splice_Site|MACF1_ENST00000317713.7_Splice_Site|MACF1_ENST00000289893.4_Splice_Site|MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000476350.1_Splice_Site|MACF1_ENST00000545844.1_Splice_Site|MACF1_ENST00000567887.1_Splice_Site			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGATTTTTCAGATTCCATACT	0.348													8	36					0	0	0	0	C	39826464	G	C	39826464	5	2	257	1	0	0	0	0	0	0	1	0	9209	956	33	2	12379	2	MACF1	1	39826464	Splice_Site	SNP	G	TCGA-CV-6942-01A-21D-2012-08	23563743	39826464	209424157	4	45952											
FOXJ3	22887	broad.mit.edu	37	chr1	42744162	42744162	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtatggaggtttcccatCtttgtgctgttggacttctt	5	18	10	8	0	2	0	0	0	2	0	3	2	3	2	1	3	1	4	1	3	1	6			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:42744162C>G	ENST00000372572.1	-	5	537	c.226G>C	c.(226-228)Gat>Cat	p.D76H	FOXJ3_ENST00000372573.1_Missense_Mutation_p.D76H|FOXJ3_ENST00000361776.1_Missense_Mutation_p.D76H|FOXJ3_ENST00000361346.1_Missense_Mutation_p.D76H|FOXJ3_ENST00000545068.1_Missense_Mutation_p.D76H	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	76					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTTTCCCATCTTTGTGCTGT	0.388													15	78					0	0	0	0	G	42744162	C	G	42744162	3	3	257	1	0	0	0	0	1	0	0	0	6060	913	32	2	1686	2	FOXJ3	1	42744162	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	2917698	42744162	206506459	5	45953											
DMAP1	55929	broad.mit.edu	37	chr1	44685131	44685131	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttcaagtctgcaggtgtCacgctgcggagccaacgggt	8	8	14	11	3	3	0	2	0	1	0	3	2	3	1	1	3	4	2	1	3	2	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:44685131C>G	ENST00000372289.2	+	7	1223	c.960C>G	c.(958-960)gtC>gtG	p.V320V	DMAP1_ENST00000361745.6_Silent_p.V320V|DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Silent_p.V320V	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	320					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CTGCAGGTGTCACGCTGCGGA	0.582													9	29					0	0	0	0	G	44685131	C	G	44685131	2	3	257	1	0	0	0	0	0	0	0	1	4613	813	29	2		2	DMAP1	1	44685131	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	1940969	44685131	204565490	6	45954											
CYP4B1	1580	broad.mit.edu	37	chr1	47264771	47264771	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatggtgcccagcttcctCtccctgagcttctcctcctt	4	13	6	18	0	2	1	0	1	2	0	6	1	4	1	6	1	3	2	6	1	0	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:47264771C>T	ENST00000271153.4	+	1	54	c.18C>T	c.(16-18)ctC>ctT	p.L6L	CYP4B1_ENST00000371919.4_Silent_p.L6L|CYP4B1_ENST00000371923.4_Silent_p.L6L|CYP4B1_ENST00000546128.1_Intron			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	6					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCAGCTTCCTCTCCCTGAGCT	0.572													4	22					0	0	0	0	T	47264771	C	T	47264771	2	4	257	1	0	0	0	0	0	0	0	1	4217	900	32	2		2	CYP4B1	1	47264771	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	2579640	47264771	201985850	7	45955											
ZFYVE9	9372	broad.mit.edu	37	chr1	52729530	52729530	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtgtgtaatctgccattCagtgctaatgaatggtaagt	11	14	11	5	0	2	1	1	1	1	0	2	1	2	1	1	1	2	3	1	1	4	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:52729530C>G	ENST00000287727.3	+	5	2436	c.2264C>G	c.(2263-2265)tCa>tGa	p.S755*	ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.S755*|ZFYVE9_ENST00000371591.1_Nonsense_Mutation_p.S755*|ZFYVE9_ENST00000361625.1_Nonsense_Mutation_p.S755*	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	755					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ATCTGCCATTCAGTGCTAATG	0.418													5	23					0	0	0	0	G	52729530	C	G	52729530	4	3	257	1	0	0	0	0	0	1	0	0	17766	838	29	2	2274	2	ZFYVE9	1	52729530	Nonsense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	5464759	52729530	196521091	8	45956											
USP1	7398	broad.mit.edu	37	chr1	62905655	62905655	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actaagagagctttggatttCacagattctcaagaaaatga	16	11	8	6	0	2	4	2	1	1	3	3	6	2	5	0	1	1	1	0	1	4	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:62905655C>G	ENST00000339950.4	+	2	932	c.117C>G	c.(115-117)ttC>ttG	p.F39L	USP1_ENST00000371146.1_Missense_Mutation_p.F39L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	39					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		CTTTGGATTTCACAGATTCTC	0.318													15	74					0	0	0	0	G	62905655	C	G	62905655	3	3	257	1	0	0	0	0	1	0	0	0	17136	825	29	2	119	2	USP1	1	62905655	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	10176125	62905655	186344966	9	45957											
USP33	23032	broad.mit.edu	37	chr1	78207408	78207408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taggaattttttcctgtttcCcaagactttcaaaatgaggt	11	16	7	7	0	1	2	1	1	0	1	3	3	3	3	2	2	0	1	2	2	5	6			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:78207408C>T	ENST00000370793.1	-	3	414	c.68G>A	c.(67-69)gGg>gAg	p.G23E	USP33_ENST00000370792.3_Missense_Mutation_p.G23E|USP33_ENST00000528150.1_5'UTR|USP33_ENST00000370794.3_5'UTR|USP33_ENST00000357428.1_Missense_Mutation_p.G23E	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	23					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTCCTGTTTCCCAAGACTTTC	0.289													3	24					0	0	0	0	T	78207408	C	T	78207408	3	4	257	1	0	0	0	0	1	0	0	0	17160	623	22	4	2864	4	USP33	1	78207408	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	15301753	78207408	171043213	10	45958											
HFM1	164045	broad.mit.edu	37	chr1	91727882	91727882	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaatttgggtttttttcaGagaaagtaaagcattgcttc	13	15	9	4	0	1	2	1	0	0	2	2	3	1	2	0	1	2	4	0	1	5	7			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:91727882G>C	ENST00000370425.3	-	38	4252	c.4154C>G	c.(4153-4155)tCt>tGt	p.S1385C	HFM1_ENST00000294696.5_3'UTR|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.S1064C	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1385							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTTTTTTCAGAGAAAGTAAA	0.279													21	84					0	0	0	0	C	91727882	G	C	91727882	3	2	257	1	0	0	0	0	1	0	0	0	7133	942	33	2	161	2	HFM1	1	91727882	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	13520474	91727882	157522739	11	45959											
ABCA4	24	broad.mit.edu	37	chr1	94526123	94526123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgtcaggaggaagatgctCatcgacatgatggagaagct	13	8	13	7	2	2	3	2	1	0	2	4	7	2	5	0	3	2	2	0	3	2	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:94526123C>T	ENST00000370225.3	-	14	2216	c.2130G>A	c.(2128-2130)atG>atA	p.M710I	ABCA4_ENST00000535735.1_Missense_Mutation_p.M710I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	710					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGAAGATGCTCATCGACATGA	0.463													20	75					0	0	0	0	T	94526123	C	T	94526123	3	4	257	1	0	0	0	0	1	0	0	0	34	826	29	2	4839	2	ABCA4	1	94526123	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	2798241	94526123	154724498	12	45960											
ARHGAP29	9411	broad.mit.edu	37	chr1	94652141	94652141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggtgttcgtggaagttttCgatgaaagtctcctagaaga	11	13	12	5	2	1	3	0	1	1	2	4	5	1	4	1	2	0	2	1	2	4	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:94652141C>T	ENST00000260526.6	-	16	1876	c.1694G>A	c.(1693-1695)cGa>cAa	p.R565Q	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	565					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGGAAGTTTTCGATGAAAGTC	0.388													36	97					0	0	0	0	T	94652141	C	T	94652141	3	4	257	1	0	0	0	0	1	0	0	0	880	884	31	1	2123	1	ARHGAP29	1	94652141	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	126018	94652141	154598480	13	45961											
RWDD3	25950	broad.mit.edu	37	chr1	95710026	95710026	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatctcaggcatatcctCagccaaccagaaactggcag	14	6	8	13	0	2	2	2	0	1	2	4	2	3	2	3	2	3	2	3	2	4	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:95710026C>A	ENST00000429514.2	+	3	506	c.300C>A	c.(298-300)ctC>ctA	p.L100L	RWDD3_ENST00000370202.4_Silent_p.L115L|RWDD3_ENST00000263893.6_Silent_p.L115L|RP11-57H12.6_ENST00000604534.1_3'UTR|RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000495272.1_3'UTR			Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	115	RWD.					cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		GGCATATCCTCAGCCAACCAG	0.443													13	46					6.72482e-11	1.07108e-10	1	0	A	95710026	C	A	95710026	2	1	257	1	0	0	0	0	0	0	0	1	13842	813	29	2		2	RWDD3	1	95710026	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	1057885	95710026	153540595	14	45962											
DPYD	1806	broad.mit.edu	37	chr1	97564048	97564048	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcataatttttaccttGatggtaggaataggcctttt	9	17	10	5	0	0	1	0	1	0	0	0	2	0	2	2	4	1	3	2	4	5	10			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:97564048G>T	ENST00000370192.3	-	21	2863	c.2763C>A	c.(2761-2763)atC>atA	p.I921I	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	921					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTTTACCTTGATGGTAGGAA	0.289													22	68					5.35047e-06	7.94409e-06	1	0	T	97564048	G	T	97564048	2	4	257	1	0	0	0	0	0	0	0	1	4781	1280	45	2		2	DPYD	1	97564048	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	1854022	97564048	151686573	15	45963											
DPYD	1806	broad.mit.edu	37	chr1	98039322	98039322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcccagcactgtacctttagGatcactcagaactgaaccaa	13	9	6	13	0	2	2	2	1	0	1	3	3	3	3	3	1	4	2	3	1	5	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:98039322G>A	ENST00000370192.3	-	11	1433	c.1333C>T	c.(1333-1335)Cct>Tct	p.P445S		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	445					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GTACCTTTAGGATCACTCAGA	0.398													24	77					0	0	0	0	A	98039322	G	A	98039322	3	1	257	1	0	0	0	0	1	0	0	0	4781	1174	41	2	1796	2	DPYD	1	98039322	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	475274	98039322	151211299	16	45964											
ANKRD35	148741	broad.mit.edu	37	chr1	145560245	145560245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacagcaggccctgagccGgcggcggcggggcggtaaag	7	3	18	13	5	0	1	0	1	0	0	0	1	0	1	3	7	3	2	3	7	3	2	rs146006151	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:145560245G>A	ENST00000355594.4	+	8	818	c.731G>A	c.(730-732)cGg>cAg	p.R244Q	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	244										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTGAGCCGGCGGCGGCGG	0.552													17	62					0	0	0	0	A	145560245	G	A	145560245	3	1	257	1	0	0	0	0	1	0	0	0	663	1116	39	1	761	1	ANKRD35	1	145560245	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	47520923	145560245	103690376	17	45965											
HIST2H3D	653604	broad.mit.edu	37	chr1	149785051	149785051	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaagggcagcttgcggatCagcagctccgtagacttctg	8	9	14	10	2	2	1	1	0	1	1	3	3	3	3	1	3	4	5	1	3	2	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:149785051C>G	ENST00000331491.1	-	1	185	c.186G>C	c.(184-186)ctG>ctC	p.L62L		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	62					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GCTTGCGGATCAGCAGCTCCG	0.692													12	29					0	0	0	0	G	149785051	C	G	149785051	2	3	257	1	0	0	0	0	0	0	0	1	7231	813	29	2		2	HIST2H3D	1	149785051	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	4224806	149785051	99465570	18	45966											
INSRR	3645	broad.mit.edu	37	chr1	156821804	156821804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcagctgtgacacagcGccaggactcatactggtagg	9	7	13	12	2	2	1	2	1	0	0	2	2	2	2	1	3	3	3	1	3	2	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:156821804G>A	ENST00000368195.3	-	3	1213	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	273					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGACACAGCGCCAGGACTCA	0.662													10	32					0	0	0	0	A	156821804	G	A	156821804	3	1	257	1	0	0	0	0	1	0	0	0	7827	1087	38	1	3155	1	INSRR	1	156821804	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	7036753	156821804	92428817	19	45967											
PIGM	93183	broad.mit.edu	37	chr1	160001446	160001446	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaaaaccagggcgactctGgctagaaaggccacaccaaa	16	4	10	11	1	1	2	0	0	1	2	1	3	1	2	3	3	1	1	3	3	6	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:160001446G>A	ENST00000368090.2	-	1	337	c.84C>T	c.(82-84)gcC>gcT	p.A28A		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	28					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGCGACTCTGGCTAGAAAGG	0.607													30	77					0	0	0	0	A	160001446	G	A	160001446	2	1	257	1	0	0	0	0	0	0	0	1	11964	1335	47	4		4	PIGM	1	160001446	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	3179642	160001446	89249175	20	45968											
ALDH9A1	223	broad.mit.edu	37	chr1	165664528	165664528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaaggattcggcaacgCtccatgccagatttttgact	11	11	8	11	2	0	2	0	1	0	1	3	3	2	3	3	2	2	2	3	2	3	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:165664528C>A	ENST00000354775.4	-	2	592	c.288G>T	c.(286-288)gaG>gaT	p.E96D	ALDH9A1_ENST00000538148.1_Missense_Mutation_p.E2D|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	72					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TTCGGCAACGCTCCATGCCAG	0.398													18	34					3.52763e-06	5.25545e-06	1	0	A	165664528	C	A	165664528	3	1	257	1	0	0	0	0	1	0	0	0	506	796	28	4	1308	4	ALDH9A1	1	165664528	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	5663082	165664528	83586093	21	45969											
ILDR2	387597	broad.mit.edu	37	chr1	166891884	166891884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccatggctgagggcccgCggcttgccccactgctgcct	4	8	12	17	2	0	1	0	1	0	0	1	1	1	1	5	3	3	3	5	3	0	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:166891884C>T	ENST00000271417.3	-	8	1212	c.1157G>A	c.(1156-1158)cGc>cAc	p.R386H	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Missense_Mutation_p.R259H|ILDR2_ENST00000526687.1_Missense_Mutation_p.R278H|ILDR2_ENST00000469934.2_Missense_Mutation_p.R386H|ILDR2_ENST00000528703.1_Missense_Mutation_p.R327H|ILDR2_ENST00000529071.1_Missense_Mutation_p.R367H	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	386						integral to membrane		p.R386L(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TGAGGGCCCGCGGCTTGCCCC	0.582													47	225					0	0	0	0	T	166891884	C	T	166891884	3	4	257	1	0	0	0	0	1	0	0	0	7763	768	27	1	774	1	ILDR2	1	166891884	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	1227356	166891884	82358737	22	45970											
CACNA1E	777	broad.mit.edu	37	chr1	181727186	181727186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcactttgtggtgtctcCgtcctttgagtacaccatta	6	15	10	10	1	1	1	0	1	1	0	3	1	2	1	3	2	1	2	3	2	2	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:181727186C>T	ENST00000526775.1	+	30	4541	c.4376C>T	c.(4375-4377)cCg>cTg	p.P1459L	CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1410L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1478L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1459L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1478L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1429L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1085L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1478					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P1478L(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTGGTGTCTCCGTCCTTTGAG	0.557													20	85					0	0	0	0	T	181727186	C	T	181727186	3	4	257	1	0	0	0	0	1	0	0	0	2567	652	23	1	4555	1	CACNA1E	1	181727186	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	14835302	181727186	67523435	23	45971											
ATP2B4	493	broad.mit.edu	37	chr1	203696681	203696681	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctggttccggggcctGaaccgtatccagactcaggt	7	10	11	13	2	2	2	1	1	1	1	5	2	5	2	5	4	1	2	5	4	2	2	rs113186728	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:203696681G>A	ENST00000357681.5	+	20	4414	c.3291G>A	c.(3289-3291)ctG>ctA	p.L1097L	ATP2B4_ENST00000367218.3_Silent_p.L1097L|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000367219.3_Silent_p.L1085L|ATP2B4_ENST00000341360.2_Silent_p.L1097L|ATP2B4_ENST00000391954.2_Silent_p.L1061L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1097	Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCCGGGGCCTGAACCGTATCC	0.562													32	75					0	0	0	0	A	203696681	G	A	203696681	2	1	257	1	0	0	0	0	0	0	0	1	1146	1277	45	2		2	ATP2B4	1	203696681	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	21969495	203696681	45553940	24	45972											
VASH2	79805	broad.mit.edu	37	chr1	213147383	213147383	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaggagacaggcaagcccCccgaggaggctcggccggcg	10	1	17	13	4	0	2	0	0	0	2	1	5	0	3	4	6	1	2	4	6	2	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:213147383C>T	ENST00000366968.4	+	8	1121	c.771C>T	c.(769-771)ccC>ccT	p.P257P	VASH2_ENST00000366967.2_Silent_p.P218P|VASH2_ENST00000366965.2_Silent_p.P278P|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366966.2_Silent_p.P257P|VASH2_ENST00000517399.1_Silent_p.P322P	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	322					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		AGGCAAGCCCCCCGAGGAGGC	0.577													5	56					0	0	0	0	T	213147383	C	T	213147383	2	4	257	1	0	0	0	0	0	0	0	1	17222	610	22	4		4	VASH2	1	213147383	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	9450702	213147383	36103238	25	45973											
FAM89A	375061	broad.mit.edu	37	chr1	231155686	231155686	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcccgaggagggcctcggtCcctcctgtcgtgcagggagt	4	8	16	13	3	0	0	0	0	0	0	5	3	3	2	4	4	1	1	4	4	0	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:231155686C>G	ENST00000366654.4	-	2	512	c.478G>C	c.(478-480)Gac>Cac	p.D160H	FAM89A_ENST00000494111.1_5'UTR	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	160										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGGCCTCGGTCCCTCCTGTCG	0.587													27	66					0	0	0	0	G	231155686	C	G	231155686	3	3	257	1	0	0	0	0	1	0	0	0	5692	855	30	2	80	2	FAM89A	1	231155686	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	18008303	231155686	18094935	26	45974											
C2orf50	130813	broad.mit.edu	37	chr2	11284117	11284117	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacacagttcccagttccacGaaccaggttgtgggcagcag	10	7	12	12	1	0	0	0	0	0	0	2	2	2	0	3	2	2	5	3	2	1	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:11284117G>A	ENST00000381585.3	+	3	651	c.369G>A	c.(367-369)acG>acA	p.T123T	C2orf50_ENST00000405022.3_Silent_p.T123T			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	123										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		CCAGTTCCACGAACCAGGTTG	0.582													10	61					0	0	0	0	A	11284117	G	A	11284117	2	1	257	1	0	0	0	0	0	0	0	1	2192	1045	37	1		1	C2orf50	2	11284117	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08		11284117	231915256	27	45975											
NBAS	51594	broad.mit.edu	37	chr2	15629092	15629092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcagtttccctgagaagtGaatggctgccaggagcatcc	9	9	12	11	0	1	2	1	2	0	1	3	4	3	3	3	2	2	4	3	2	2	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:15629092G>A	ENST00000281513.5	-	12	1034	c.1009C>T	c.(1009-1011)Cac>Tac	p.H337Y	NBAS_ENST00000441750.1_Missense_Mutation_p.H337Y	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	337										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCTGAGAAGTGAATGGCTGCC	0.448													14	62					0	0	0	0	A	15629092	G	A	15629092	3	1	257	1	0	0	0	0	1	0	0	0	10256	1290	45	2	6270	2	NBAS	2	15629092	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	4344975	15629092	227570281	28	45976											
TTC32	130502	broad.mit.edu	37	chr2	20101573	20101573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttgaaatgagcctgggCgagtgttagggttgcgtggc	7	12	17	5	2	0	2	0	2	0	0	0	3	0	2	1	3	2	3	1	3	2	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:20101573C>T	ENST00000333610.3	-	1	174	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	TTC32_ENST00000402414.1_Missense_Mutation_p.A15T	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	15							identical protein binding			kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGCCTGGGCGAGTGTTAGG	0.597													10	82					0	0	0	0	T	20101573	C	T	20101573	3	4	257	1	0	0	0	0	1	0	0	0	16797	768	27	1	424	1	TTC32	2	20101573	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	4472481	20101573	223097800	29	45977											
APOB	338	broad.mit.edu	37	chr2	21230369	21230369	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaggaatgtttaagaaaTccagatttgcttctccattt	13	16	6	6	0	1	2	0	0	1	2	3	3	2	3	2	1	1	2	2	1	5	6			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:21230369T>C	ENST00000233242.1	-	26	9498	c.9371A>G	c.(9370-9372)gAt>gGt	p.D3124G		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3124					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTTTAAGAAATCCAGATTTGC	0.378													19	84					0	0	0	0	C	21230369	T	C	21230369	3	2	257	1	0	0	0	0	1	0	0	0	787	1435	50	5	4336	5	APOB	2	21230369	Missense_Mutation	SNP	T	TCGA-CV-6942-01A-21D-2012-08	1128796	21230369	221969004	30	45978											
OTOF	9381	broad.mit.edu	37	chr2	26688665	26688665	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtcatacacagccacCgtcagcatggattccatggg	10	8	9	14	1	2	0	2	0	0	0	4	1	4	1	4	2	3	1	4	2	1	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:26688665C>A	ENST00000272371.2	-	38	4800	c.4674G>T	c.(4672-4674)acG>acT	p.T1558T	OTOF_ENST00000338581.6_Silent_p.T791T|OTOF_ENST00000339598.3_Silent_p.T791T|OTOF_ENST00000403946.3_Silent_p.T1558T|OTOF_ENST00000402415.3_Silent_p.T868T	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1558	C2 4.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACAGCCACCGTCAGCATGG	0.572													11	51					1.08611e-07	1.64607e-07	1	0	A	26688665	C	A	26688665	2	1	257	1	0	0	0	0	0	0	0	1	11374	639	23	3		3	OTOF	2	26688665	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	5458296	26688665	216510708	31	45979											
C2orf53	339779	broad.mit.edu	37	chr2	27360067	27360067	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttggtgcccgaggtggAggcccggagaaacatcgtgg	7	9	17	8	3	0	1	0	0	0	1	1	4	0	2	2	6	2	1	2	6	1	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:27360067A>G	ENST00000335524.3	-	3	1656	c.1131T>C	c.(1129-1131)ccT>ccC	p.P377P		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	377										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGAGGTGGAGGCCCGGAGA	0.607													3	111					0	0	0	0	G	27360067	A	G	27360067	2	3	257	1	0	0	0	0	0	0	0	1	2194	291	11	5		5	C2orf53	2	27360067	Silent	SNP	A	TCGA-CV-6942-01A-21D-2012-08	671402	27360067	215839306	32	45980											
RBKS	64080	broad.mit.edu	37	chr2	28050554	28050554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacctggcagccccttttCaagagcactaatgcagcctc	10	8	7	16	0	1	1	1	0	0	1	2	1	1	1	5	1	4	3	5	1	2	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:28050554C>A	ENST00000302188.3	-	7	1427	c.675G>T	c.(673-675)ttG>ttT	p.L225F	RBKS_ENST00000444339.2_Missense_Mutation_p.L225F	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	225					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AGCCCCTTTTCAAGAGCACTA	0.512													17	60					2.23348e-06	3.33879e-06	1	0	A	28050554	C	A	28050554	3	1	257	1	0	0	0	0	1	0	0	0	13190	825	29	2	301	2	RBKS	2	28050554	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	690487	28050554	215148819	33	45981											
EPCAM	4072	broad.mit.edu	37	chr2	47604194	47604194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgcgttatcaactggatcCaaaatttatcacgagtattt	14	13	6	8	3	2	0	2	0	0	0	3	2	3	1	1	1	2	2	1	1	7	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:47604194C>A	ENST00000263735.4	+	5	891	c.533C>A	c.(532-534)cCa>cAa	p.P178Q	EPCAM_ENST00000405271.1_Missense_Mutation_p.P206Q	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	178					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						CAACTGGATCCAAAATTTATC	0.333													12	53					1.61879e-10	2.55968e-10	1	0	A	47604194	C	A	47604194	3	1	257	1	0	0	0	0	1	0	0	0	5200	594	21	4	551	4	EPCAM	2	47604194	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	19553640	47604194	195595179	34	45982											
BCL11A	53335	broad.mit.edu	37	chr2	60687704	60687704	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcctggtgagcttgctactCtgggcacaggcatagttgca	7	11	13	10	0	1	1	0	1	1	0	1	1	1	1	1	3	5	6	1	3	2	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:60687704C>G	ENST00000335712.6	-	4	2570	c.2343G>C	c.(2341-2343)caG>caC	p.Q781H	BCL11A_ENST00000538214.1_Missense_Mutation_p.Q747H|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.Q747H|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	781					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GCTTGCTACTCTGGGCACAGG	0.493			T	IGH@	B-CLL								22	71					0	0	0	0	G	60687704	C	G	60687704	3	3	257	1	0	0	0	0	1	0	0	0	1367	912	32	2	274	2	BCL11A	2	60687704	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	13083510	60687704	182511669	35	45983											
USP34	9736	broad.mit.edu	37	chr2	61483552	61483552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtactttcttcccacaatgaGaacaagtatacatgttatca	14	13	5	9	0	2	1	1	1	1	1	3	2	3	1	1	0	3	3	1	0	7	6			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:61483552G>C	ENST00000398571.2	-	48	6264	c.6188C>G	c.(6187-6189)tCt>tGt	p.S2063C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2063					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCCACAATGAGAACAAGTATA	0.313													9	44					0	0	0	0	C	61483552	G	C	61483552	3	2	257	1	0	0	0	0	1	0	0	0	17161	942	33	2	4584	2	USP34	2	61483552	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	795848	61483552	181715821	36	45984											
CLEC4F	165530	broad.mit.edu	37	chr2	71043722	71043722	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtcctcaagtcattgAcactatctagatggcctctc	8	13	8	12	0	5	2	2	1	3	1	7	2	6	2	2	2	0	0	2	2	3	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:71043722A>G	ENST00000272367.2	-	4	867	c.791T>C	c.(790-792)gTc>gCc	p.V264A	CLEC4F_ENST00000426626.1_Missense_Mutation_p.V264A	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	264					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAAGTCATTGACACTATCTAG	0.428													29	85					0	0	0	0	G	71043722	A	G	71043722	3	3	257	1	0	0	0	0	1	0	0	0	3546	275	10	5	994	5	CLEC4F	2	71043722	Missense_Mutation	SNP	A	TCGA-CV-6942-01A-21D-2012-08	9560170	71043722	172155651	37	45985											
TSGA10	80705	broad.mit.edu	37	chr2	99695250	99695250	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgatttcttctcgctGtgcaatattttgccttgtaa	8	18	7	8	1	2	1	0	1	2	0	3	1	2	1	1	0	3	4	1	0	4	7			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:99695250G>C	ENST00000393483.3	-	12	1598	c.754C>G	c.(754-756)Cag>Gag	p.Q252E	TSGA10_ENST00000355053.4_Missense_Mutation_p.Q252E|TSGA10_ENST00000542655.1_Missense_Mutation_p.Q252E|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000410001.1_Missense_Mutation_p.Q252E|TSGA10_ENST00000539964.1_Missense_Mutation_p.Q252E	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	252					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCTTCTCGCTGTGCAATATTT	0.328													4	32					0	0	0	0	C	99695250	G	C	99695250	3	2	257	1	0	0	0	0	1	0	0	0	16712	1386	48	4	1382	4	TSGA10	2	99695250	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	28651528	99695250	143504123	38	45986											
IL18R1	8809	broad.mit.edu	37	chr2	102984411	102984411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtacaaaagcagtggatCacaggaacatgtggagctga	14	7	13	7	0	1	1	1	1	0	0	1	4	1	4	0	4	4	3	0	4	4	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:102984411C>T	ENST00000409599.1	+	4	541	c.185C>T	c.(184-186)tCa>tTa	p.S62L	IL18R1_ENST00000233957.1_Missense_Mutation_p.S62L|IL18R1_ENST00000334376.3_Missense_Mutation_p.S62L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	62	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	p.S62L(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGCAGTGGATCACAGGAACAT	0.443													15	45					0	0	0	0	T	102984411	C	T	102984411	3	4	257	1	0	0	0	0	1	0	0	0	7700	838	29	2	191	2	IL18R1	2	102984411	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	3289161	102984411	140214962	39	45987											
HS6ST1	9394	broad.mit.edu	37	chr2	129025882	129025882	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccctgcgctccagctGccgcttgtactggtagcgct	3	11	11	16	3	0	0	0	0	0	0	2	0	2	0	3	1	6	7	3	1	2	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:129025882G>A	ENST00000259241.6	-	2	1103	c.1090C>T	c.(1090-1092)Cag>Tag	p.Q364*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	364					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CGCTCCAGCTGCCGCTTGTAC	0.672													20	50					0	0	0	0	A	129025882	G	A	129025882	4	1	257	1	0	0	0	0	0	1	0	0	7420	1328	46	4	149	4	HS6ST1	2	129025882	Nonsense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	26041471	129025882	114173491	40	45988											
MGAT5	4249	broad.mit.edu	37	chr2	135093845	135093845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatccctacgaagaagctGatcataattcattggtaagt	16	11	7	7	1	2	2	2	1	0	1	3	3	3	2	1	1	2	2	1	1	7	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:135093845G>A	ENST00000409645.1	+	6	883	c.631G>A	c.(631-633)Gat>Aat	p.D211N	MGAT5_ENST00000281923.2_Missense_Mutation_p.D211N			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	211					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CGAAGAAGCTGATCATAATTC	0.363													11	20					0	0	0	0	A	135093845	G	A	135093845	3	1	257	1	0	0	0	0	1	0	0	0	9617	1290	45	2	649	2	MGAT5	2	135093845	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	6067963	135093845	108105528	41	45989											
KIF5C	3800	broad.mit.edu	37	chr2	149793866	149793866	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgatatctttgaccatatCtactccatggatgagaacct	12	13	6	10	0	2	3	0	3	2	1	3	5	3	4	3	1	2	0	3	1	4	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:149793866C>G	ENST00000435030.1	+	4	728	c.360C>G	c.(358-360)atC>atG	p.I120M	KIF5C_ENST00000414838.2_Missense_Mutation_p.I25M			O60282	KIF5C_HUMAN	kinesin family member 5C	120	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TTGACCATATCTACTCCATGG	0.483													2	7					0	0	0	0	G	149793866	C	G	149793866	3	3	257	1	0	0	0	0	1	0	0	0	8358	903	32	2	296	2	KIF5C	2	149793866	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	14700021	149793866	93405507	42	45990											
NFE2L2	4780	broad.mit.edu	37	chr2	178095623	178095623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaggttttccatcttcatCacgtagcatgctgaaaactt	12	14	6	9	1	3	1	2	1	1	0	4	1	4	1	1	1	3	4	1	1	4	6			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:178095623C>T	ENST00000397062.3	-	5	2262	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N	NFE2L2_ENST00000446151.2_Missense_Mutation_p.D547N|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D554N|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D554N	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	570					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CCATCTTCATCACGTAGCATG	0.378			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			18	107					0	0	0	0	T	178095623	C	T	178095623	3	4	257	1	0	0	0	0	1	0	0	0	10438	826	29	2	113	2	NFE2L2	2	178095623	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	28301757	178095623	65103750	43	45991											
TTN	7273	broad.mit.edu	37	chr2	179397871	179397871	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgtcagtggtacactttCagttccagaaagaatttcag	11	13	9	8	0	3	2	3	0	0	2	4	2	4	2	1	1	1	2	1	1	3	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:179397871C>G	ENST00000589042.1	-	358	103695	c.103471G>C	c.(103471-103473)Gaa>Caa	p.E34491Q	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31923Q|TTN_ENST00000591111.1_Missense_Mutation_p.E32850Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25426Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25618Q|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25551Q|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32850							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E25551Q(1)|p.E25618Q(1)|p.E25426Q(1)|p.E31921Q(1)|p.E31923Q(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)			GGTACACTTTCAGTTCCAGAA	0.433													41	131					0	0	0	0	G	179397871	C	G	179397871	3	3	257	1	0	0	0	0	1	0	0	0	16831	835	29	2	4528	2	TTN	2	179397871	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	1302248	179397871	63801502	44	45992											
TTN	7273	broad.mit.edu	37	chr2	179450071	179450071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcataaggatctttggtGgcactgaaagtaaaatgaaa	15	10	11	5	0	1	2	0	2	1	0	1	3	1	3	0	4	0	3	0	4	5	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:179450071G>A	ENST00000589042.1	-	309	64624	c.64400C>T	c.(64399-64401)cCa>cTa	p.P21467L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18899L|TTN_ENST00000591111.1_Missense_Mutation_p.P19826L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P12402L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12594L|TTN_ENST00000359218.5_Missense_Mutation_p.P12527L|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19826	Fibronectin type-III 55.						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)			GATCTTTGGTGGCACTGAAAG	0.398													25	97					0	0	0	0	A	179450071	G	A	179450071	3	1	257	1	0	0	0	0	1	0	0	0	16831	1348	47	4	43795	4	TTN	2	179450071	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	52200	179450071	63749302	45	45993											
PGAP1	80055	broad.mit.edu	37	chr2	197767387	197767387	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacttggtaatcccggaaTcctccagctacagaaagtgt	12	9	9	11	2	0	1	0	0	0	1	3	3	3	2	3	2	3	2	3	2	5	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:197767387T>A	ENST00000354764.3	-	5	843	c.729A>T	c.(727-729)ggA>ggT	p.G243G	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Silent_p.G243G|PGAP1_ENST00000409188.1_Silent_p.G201G	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	243					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AATCCCGGAATCCTCCAGCTA	0.358													14	54					0	0	0	0	A	197767387	T	A	197767387	2	1	257	1	0	0	0	0	0	0	0	1	11849	1422	50	5		5	PGAP1	2	197767387	Silent	SNP	T	TCGA-CV-6942-01A-21D-2012-08	18317316	197767387	45431986	46	45994											
HSPD1	3329	broad.mit.edu	37	chr2	198363463	198363463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccttgaagcattaaggctCgggcatctgcaccaaatttt	11	11	8	11	1	1	1	0	1	1	0	2	1	1	1	2	2	2	4	2	2	3	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:198363463C>T	ENST00000388968.3	-	2	377	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	HSPD1_ENST00000544407.1_Missense_Mutation_p.R37Q|HSPD1_ENST00000345042.2_Missense_Mutation_p.R37Q	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	37					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CATTAAGGCTCGGGCATCTGC	0.463													16	85					0	0	0	0	T	198363463	C	T	198363463	3	4	257	1	0	0	0	0	1	0	0	0	7481	884	31	1	1655	1	HSPD1	2	198363463	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	596076	198363463	44835910	47	45995											
MARS2	92935	broad.mit.edu	37	chr2	198570406	198570406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgcgattctccactggtaccGacgagcacgggctgaagatt	9	8	12	12	5	1	2	0	1	1	1	2	5	1	2	2	2	2	3	2	2	2	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:198570406G>C	ENST00000282276.6	+	1	320	c.277G>C	c.(277-279)Gac>Cac	p.D93H	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	93					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CACTGGTACCGACGAGCACGG	0.667													8	26					0	0	0	0	C	198570406	G	C	198570406	3	2	257	1	0	0	0	0	1	0	0	0	9386	1058	37	3	279	3	MARS2	2	198570406	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	206943	198570406	44628967	48	45996											
MARS2	92935	broad.mit.edu	37	chr2	198570421	198570421	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccgacgagcacgggctgAagattcagcaggcagcagct	11	5	14	11	3	1	2	1	1	0	1	1	4	1	2	1	2	5	7	1	2	2	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:198570421A>C	ENST00000282276.6	+	1	335	c.292A>C	c.(292-294)Aag>Cag	p.K98Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	98					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GCACGGGCTGAAGATTCAGCA	0.672													8	31					0	0	0	0	C	198570421	A	C	198570421	3	2	257	1	0	0	0	0	1	0	0	0	9386	247	9	5	294	5	MARS2	2	198570421	Missense_Mutation	SNP	A	TCGA-CV-6942-01A-21D-2012-08	15	198570421	44628952	49	45997											
CXCR2	3579	broad.mit.edu	37	chr2	218999995	218999995	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacacgcacactgacccaGaagcgctacttggtcaaatt	12	7	8	14	2	1	2	1	1	0	1	1	2	1	2	2	1	2	2	2	1	3	3	rs146545386		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:218999995G>C	ENST00000318507.2	+	3	898	c.471G>C	c.(469-471)caG>caC	p.Q157H		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	157					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CACTGACCCAGAAGCGCTACT	0.527													15	36					0	0	0	0	C	218999995	G	C	218999995	3	2	257	1	0	0	0	0	1	0	0	0	4123	933	33	2	473	2	CXCR2	2	218999995	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	20429574	218999995	24199378	50	45998											
CXCR2	3579	broad.mit.edu	37	chr2	219000052	219000052	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggtctgtccttgctcctGgccctgcctgtcttactttt	1	17	10	13	0	2	0	0	0	2	0	4	0	4	0	4	3	3	1	4	3	1	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:219000052G>A	ENST00000318507.2	+	3	955	c.528G>A	c.(526-528)ctG>ctA	p.L176L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	176					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCTTGCTCCTGGCCCTGCCTG	0.532													18	32					0	0	0	0	A	219000052	G	A	219000052	2	1	257	1	0	0	0	0	0	0	0	1	4123	1335	47	4		4	CXCR2	2	219000052	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	57	219000052	24199321	51	45999											
TRIP12	9320	broad.mit.edu	37	chr2	230653558	230653558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgttgggatgtttcctgtCatgattactaaaggatcttg	9	16	10	6	0	2	1	1	1	1	0	3	3	3	3	1	2	1	2	1	2	3	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:230653558C>T	ENST00000283943.5	-	31	4747	c.4569G>A	c.(4567-4569)atG>atA	p.M1523I	TRIP12_ENST00000389044.4_Missense_Mutation_p.M1571I|TRIP12_ENST00000389045.3_Missense_Mutation_p.M1253I	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1523	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGTTTCCTGTCATGATTACTA	0.378													32	92					0	0	0	0	T	230653558	C	T	230653558	3	4	257	1	0	0	0	0	1	0	0	0	16651	826	29	2	1453	2	TRIP12	2	230653558	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	11653506	230653558	12545815	52	46000											
ATG16L1	55054	broad.mit.edu	37	chr2	234186223	234186223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcttgcaggatgcacatGatggggaagtcaacgctgtg	9	11	14	7	1	2	1	1	1	1	0	2	3	2	3	0	3	3	3	0	3	2	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:234186223G>A	ENST00000392017.4	+	10	1221	c.964G>A	c.(964-966)Gat>Aat	p.D322N	ATG16L1_ENST00000392018.1_Missense_Mutation_p.D339N|ATG16L1_ENST00000373525.5_Missense_Mutation_p.D178N|ATG16L1_ENST00000392020.4_Missense_Mutation_p.D303N|ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000347464.5_Missense_Mutation_p.D159N	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	322					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GGATGCACATGATGGGGAAGT	0.522													15	48					0	0	0	0	A	234186223	G	A	234186223	3	1	257	1	0	0	0	0	1	0	0	0	1095	1290	45	2	1002	2	ATG16L1	2	234186223	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	3532665	234186223	9013150	53	46001											
UGT1A8	54576	broad.mit.edu	37	chr2	234527112	234527112	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacatcaatttggttgttGcgaacagactttgttttgga	10	15	9	7	1	1	1	1	0	0	1	1	3	1	2	0	2	2	3	0	2	2	6			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:234527112G>A	ENST00000373450.4	+	1	822	c.759G>A	c.(757-759)ttG>ttA	p.L253L		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTGGTTGTTGCGAACAGACT	0.428													61	290					0	0	0	0	A	234527112	G	A	234527112	2	1	257	1	0	0	0	0	0	0	0	1	17047	1310	46	4		4	UGT1A8	2	234527112	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	340889	234527112	8672261	54	46002											
PASK	23178	broad.mit.edu	37	chr2	242065973	242065973	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacacacgacccctgtTcctggagactgcctacatct	9	8	8	16	1	1	1	0	0	1	1	2	4	2	2	5	2	2	1	5	2	1	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:242065973T>C	ENST00000403638.3	-	10	2448	c.2357A>G	c.(2356-2358)gAa>gGa	p.E786G	PASK_ENST00000358649.4_Missense_Mutation_p.E786G|PASK_ENST00000544142.1_Missense_Mutation_p.E600G|PASK_ENST00000539818.1_Missense_Mutation_p.E570G|PASK_ENST00000405260.1_Missense_Mutation_p.E786G|PASK_ENST00000234040.4_Missense_Mutation_p.E786G	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	786					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGACCCCTGTTCCTGGAGACT	0.567													22	65					0	0	0	0	C	242065973	T	C	242065973	3	2	257	1	0	0	0	0	1	0	0	0	11543	1783	62	5	1650	5	PASK	2	242065973	Missense_Mutation	SNP	T	TCGA-CV-6942-01A-21D-2012-08	7538861	242065973	1133400	55	46003											
SYN2	6854	broad.mit.edu	37	chr3	12209896	12209896	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacaaactgtgggtggacaCctgctctgagatgtttggcg	8	11	14	8	1	1	1	0	1	1	1	1	3	1	2	1	3	3	3	1	3	2	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:12209896C>T	ENST00000432424.2	+	0	1248							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TGGGTGGACACCTGCTCTGAG	0.522													9	20					0	0	0	0	T	12209896	C	T	12209896	1	4	257	0	1	0	0	0	0	0	0	0	15532	507	18	4		4	SYN2	3	12209896	RNA	SNP	C	TCGA-CV-6942-01A-21D-2012-08		12209896	185812534	56	46004											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32612233	32612233	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcccggcggagaagaaccGaaggagccgactcgccccac	12	2	12	15	5	0	2	0	0	0	2	2	6	1	3	5	3	2	0	5	3	4	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:32612233G>A	ENST00000273130.4	-	1	133	c.30C>T	c.(28-30)ttC>ttT	p.F10F	DYNC1LI1_ENST00000432458.2_Silent_p.F10F	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	10					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GAGAAGAACCGAAGGAGCCGA	0.672													5	21					0	0	0	0	A	32612233	G	A	32612233	2	1	257	1	0	0	0	0	0	0	0	1	4880	1049	37	1		1	DYNC1LI1	3	32612233	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	20402337	32612233	165410197	57	46005											
SCN11A	11280	broad.mit.edu	37	chr3	38991702	38991702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttaggtcaagctgaggcCgaggctggggtacttctcct	6	11	13	11	1	2	1	1	1	1	0	3	2	2	1	3	5	2	3	3	5	3	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:38991702C>T	ENST00000450244.1	-	1	350	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	SCN11A_ENST00000444237.2_Missense_Mutation_p.R51Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.R51Q|SCN11A_ENST00000302328.3_Missense_Mutation_p.R51Q			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	51					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGCTGAGGCCGAGGCTGGGG	0.522													13	157					0	0	0	0	T	38991702	C	T	38991702	3	4	257	1	0	0	0	0	1	0	0	0	14000	652	23	1	5327	1	SCN11A	3	38991702	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	6379469	38991702	159030728	58	46006											
XIRP1	165904	broad.mit.edu	37	chr3	39227860	39227860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agactgccatccctttctgtCcagagtgactgtcttcctgc	6	13	8	14	0	2	3	0	1	2	2	5	3	5	3	4	0	2	0	4	0	0	2	rs139499086	by1000genomes	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:39227860C>G	ENST00000340369.3	-	2	3305	c.3077G>C	c.(3076-3078)gGa>gCa	p.G1026A	XIRP1_ENST00000396251.1_Missense_Mutation_p.G1026A|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1026							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCTTTCTGTCCAGAGTGACT	0.607													14	56					0	0	0	0	G	39227860	C	G	39227860	3	3	257	1	0	0	0	0	1	0	0	0	17525	855	30	2	2458	2	XIRP1	3	39227860	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	236158	39227860	158794570	59	46007											
CTNNB1	1499	broad.mit.edu	37	chr3	41266590	41266590	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtttggctgaaccatcAcagatgctgaaacatgcagt	12	9	10	10	1	1	3	1	2	0	1	1	3	1	3	1	1	5	4	1	1	2	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:41266590A>G	ENST00000349496.5	+	4	667	c.387A>G	c.(385-387)tcA>tcG	p.S129S	CTNNB1_ENST00000453024.1_Silent_p.S122S|CTNNB1_ENST00000396183.3_Silent_p.S129S|CTNNB1_ENST00000405570.1_Silent_p.S129S|CTNNB1_ENST00000396185.3_Silent_p.S129S	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	129					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.H24_M131del(1)|p.I35_K170del(1)|p.E15_I140>V(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P16_K133del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTGAACCATCACAGATGCTGA	0.448		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				15	48					0	0	0	0	G	41266590	A	G	41266590	2	3	257	1	0	0	0	0	0	0	0	1	4048	146	6	5		5	CTNNB1	3	41266590	Silent	SNP	A	TCGA-CV-6942-01A-21D-2012-08	2038730	41266590	156755840	60	46008											
TRAK1	22906	broad.mit.edu	37	chr3	42229593	42229593	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcttcagttctacacCagcgctgcggaggagagtga	9	8	14	10	2	2	2	1	1	1	1	2	5	2	3	1	2	5	4	1	2	1	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:42229593C>T	ENST00000327628.5	+	5	937	c.537C>T	c.(535-537)acC>acT	p.T179T	TRAK1_ENST00000341421.3_Silent_p.T121T|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Silent_p.T105T|TRAK1_ENST00000396175.1_Silent_p.T121T	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	179	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGTTCTACACCAGCGCTGCGG	0.577													22	136					0	0	0	0	T	42229593	C	T	42229593	2	4	257	1	0	0	0	0	0	0	0	1	16544	581	21	4		4	TRAK1	3	42229593	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	963003	42229593	155792837	61	46009											
LZTFL1	54585	broad.mit.edu	37	chr3	45874556	45874556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattaccttgtttaggagttCtgctgttccaccttcattaa	8	18	6	9	0	2	0	1	0	1	0	3	1	3	1	3	1	2	4	3	1	4	9			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:45874556C>T	ENST00000296135.6	-	5	616	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	LZTFL1_ENST00000536047.1_Missense_Mutation_p.E131K|LZTFL1_ENST00000539217.1_Missense_Mutation_p.E144K|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	148										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTTAGGAGTTCTGCTGTTCCA	0.383													9	80					0	0	0	0	T	45874556	C	T	45874556	3	4	257	1	0	0	0	0	1	0	0	0	9201	922	32	2	481	2	LZTFL1	3	45874556	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	3644963	45874556	152147874	62	46010											
ABHD14A	25864	broad.mit.edu	37	chr3	52014456	52014456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaagcacagaggcagggCgggcagcgctgctggagcgg	9	2	20	10	3	0	1	0	0	0	1	0	2	0	2	0	6	4	6	0	6	1	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:52014456C>T	ENST00000273596.3	+	4	513	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	ABHD14A_ENST00000491470.1_Intron|ABHD14B_ENST00000483233.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000458031.2_Intron	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	149						cytoplasm|integral to membrane	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAGGCAGGGCGGGCAGCGCT	0.637													25	45					0	0	0	0	T	52014456	C	T	52014456	3	4	257	1	0	0	0	0	1	0	0	0	79	759	27	1	459	1	ABHD14A	3	52014456	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	6139900	52014456	146007974	63	46011											
ROBO1	6091	broad.mit.edu	37	chr3	78696802	78696802	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgtgaaggtaaaagacGggactgaaaaatcaaaacaa	19	7	11	4	1	1	3	1	2	0	1	1	4	1	4	0	3	1	1	0	3	8	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:78696802G>C	ENST00000436010.2	-	18	3696	c.2699C>G	c.(2698-2700)cCg>cGg	p.P900R	ROBO1_ENST00000495273.1_Intron|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000464233.1_Missense_Mutation_p.P939R			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	939					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGTAAAAGACGGGACTGAAAA	0.343													61	232					0	0	0	0	C	78696802	G	C	78696802	3	2	257	1	0	0	0	0	1	0	0	0	13598	1116	39	3	2187	3	ROBO1	3	78696802	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	26682346	78696802	119325628	64	46012											
WDR52	55779	broad.mit.edu	37	chr3	113152421	113152421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttacttacatcttgattCtgatttagaagacctcagag	11	16	6	8	0	4	5	1	2	3	3	4	5	4	5	1	0	2	0	1	0	4	7			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:113152421C>G	ENST00000393845.2	-	2	157	c.91G>C	c.(91-93)Gaa>Caa	p.E31Q	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Missense_Mutation_p.E31Q	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	31										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CATCTTGATTCTGATTTAGAA	0.313													17	65					0	0	0	0	G	113152421	C	G	113152421	3	3	257	1	0	0	0	0	1	0	0	0	17400	922	32	2	5624	2	WDR52	3	113152421	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	34455619	113152421	84870009	65	46013											
RABL3	285282	broad.mit.edu	37	chr3	120413005	120413005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattgaaaccattaccttatCaaaaaacctactgagcttga	17	11	4	9	0	1	3	1	3	0	0	1	3	1	3	3	0	5	1	3	0	8	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:120413005C>G	ENST00000273375.3	-	6	630	c.601G>C	c.(601-603)Gat>Cat	p.D201H	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Intron	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	201	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		ATTACCTTATCAAAAAACCTA	0.299													33	95					0	0	0	0	G	120413005	C	G	120413005	3	3	257	1	0	0	0	0	1	0	0	0	13054	826	29	2	121	2	RABL3	3	120413005	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	7260584	120413005	77609425	66	46014											
DIRC2	84925	broad.mit.edu	37	chr3	122514336	122514336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcgtgctgtgggggcccatCggcttcctgccctgcttcgc	1	11	13	16	3	0	0	0	0	0	0	4	0	1	0	3	3	3	3	3	3	0	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:122514336C>G	ENST00000261038.5	+	1	695	c.297C>G	c.(295-297)atC>atG	p.I99M		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	99					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GGGGGCCCATCGGCTTCCTGC	0.692													5	23					0	0	0	0	G	122514336	C	G	122514336	3	3	257	1	0	0	0	0	1	0	0	0	4571	874	31	3	299	3	DIRC2	3	122514336	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	2101331	122514336	75508094	67	46015											
UBA5	79876	broad.mit.edu	37	chr3	132387716	132387716	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaatatgaatagacttttcTtccaacctcatcaagcagga	14	11	5	11	0	3	2	2	1	1	1	4	3	4	3	3	1	2	1	3	1	6	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:132387716T>A	ENST00000356232.4	+	4	1424	c.352T>A	c.(352-354)Ttc>Atc	p.F118I	UBA5_ENST00000494238.2_Missense_Mutation_p.F62I|UBA5_ENST00000473651.1_Missense_Mutation_p.F118I|UBA5_ENST00000493720.2_Missense_Mutation_p.F118I|UBA5_ENST00000264991.4_Missense_Mutation_p.F62I	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	118					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TAGACTTTTCTTCCAACCTCA	0.338													30	95					0	0	0	0	A	132387716	T	A	132387716	3	1	257	1	0	0	0	0	1	0	0	0	16926	1609	56	5	366	5	UBA5	3	132387716	Missense_Mutation	SNP	T	TCGA-CV-6942-01A-21D-2012-08	9873380	132387716	65634714	68	46016											
PPP2R3A	5523	broad.mit.edu	37	chr3	135720623	135720623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaggccttcacaggcataCccagggtcaagagaggatct	13	6	11	11	0	3	1	2	0	1	1	3	3	3	2	2	4	2	1	2	4	3	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:135720623C>A	ENST00000264977.3	+	2	900	c.283C>A	c.(283-285)Ccc>Acc	p.P95T	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	95					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACAGGCATACCCAGGGTCAA	0.423													9	45					7.48243e-07	1.12236e-06	1	0	A	135720623	C	A	135720623	3	1	257	1	0	0	0	0	1	0	0	0	12464	507	18	4	285	4	PPP2R3A	3	135720623	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	3332907	135720623	62301807	69	46017											
RASA2	5922	broad.mit.edu	37	chr3	141292835	141292835	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcaatacaattgtaaaatCaagtatgagctgccccactg	15	11	6	9	0	2	1	2	1	0	0	2	1	2	1	2	0	3	3	2	0	7	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:141292835C>G	ENST00000286364.3	+	14	1444	c.1409C>G	c.(1408-1410)tCa>tGa	p.S470*	RASA2_ENST00000452898.1_Nonsense_Mutation_p.S470*			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	470	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATTGTAAAATCAAGTATGAGC	0.348													7	36					0	0	0	0	G	141292835	C	G	141292835	4	3	257	1	0	0	0	0	0	1	0	0	13143	838	29	2	1463	2	RASA2	3	141292835	Nonsense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	5572212	141292835	56729595	70	46018											
EIF4G1	1981	broad.mit.edu	37	chr3	184039136	184039136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcccagagcatagcccttCagaatcccagccttcgtcgc	8	8	9	16	2	1	2	1	0	0	2	4	2	2	2	4	1	3	1	4	1	2	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:184039136C>T	ENST00000342981.4	+	9	1178	c.764C>T	c.(763-765)tCa>tTa	p.S255L	EIF4G1_ENST00000441154.1_Missense_Mutation_p.S91L|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S59L|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S59L|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S262L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S262L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S215L|EIF4G1_ENST00000346169.2_Missense_Mutation_p.S255L|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S168L|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S262L|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S91L|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S255L|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S215L|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S168L	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	255					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATAGCCCTTCAGAATCCCAG	0.577													23	99					0	0	0	0	T	184039136	C	T	184039136	3	4	257	1	0	0	0	0	1	0	0	0	5074	838	29	2	794	2	EIF4G1	3	184039136	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	42746301	184039136	13983294	71	46019											
HS3ST1	9957	broad.mit.edu	37	chr4	11400946	11400946	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaacctctcgaccttttgGatctcagggaaggggtccct	8	10	12	11	1	2	0	1	0	2	0	5	4	3	3	3	5	1	0	3	5	2	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:11400946G>A	ENST00000002596.5	-	2	1858	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	228						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.I228I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CGACCTTTTGGATCTCAGGGA	0.557													6	28					0	0	0	0	A	11400946	G	A	11400946	2	1	257	1	0	0	0	0	0	0	0	1	7413	1164	41	2		2	HS3ST1	4	11400946	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08		11400946	179753330	72	46020											
ATP8A1	10396	broad.mit.edu	37	chr4	42416643	42416643	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagaaactcaaatactcaCggagcagattttgttgcaag	16	10	8	7	1	2	2	2	0	0	2	2	3	2	3	0	1	4	3	0	1	5	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:42416643C>T	ENST00000381668.5	-	36	3629		c.e36+1		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CAAATACTCACGGAGCAGATT	0.388													24	82					0	0	0	0	T	42416643	C	T	42416643	5	4	257	1	0	0	0	0	0	0	1	0	1196	550	19	1	104	1	ATP8A1	4	42416643	Splice_Site	SNP	C	TCGA-CV-6942-01A-21D-2012-08	31015697	42416643	148737633	73	46021											
LRRC66	339977	broad.mit.edu	37	chr4	52860807	52860807	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcagatctatcagtgtcaGaggcattttccagatgagtc	10	12	9	10	0	4	4	3	1	1	3	6	4	5	4	2	1	0	1	2	1	1	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:52860807G>C	ENST00000343457.3	-	4	2387	c.2381C>G	c.(2380-2382)tCt>tGt	p.S794C		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	794						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATCAGTGTCAGAGGCATTTTC	0.473													4	32					0	0	0	0	C	52860807	G	C	52860807	3	2	257	1	0	0	0	0	1	0	0	0	9082	942	33	2	265	2	LRRC66	4	52860807	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	10444164	52860807	138293469	74	46022											
WDFY3	23001	broad.mit.edu	37	chr4	85701392	85701392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaggcccaggatggctgCagctccaccaacgtactgca	10	5	10	16	1	0	0	0	0	0	0	1	1	1	1	4	3	5	5	4	3	2	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:85701392C>A	ENST00000322366.6	-	26	4641	c.4234G>T	c.(4234-4236)Gca>Tca	p.A1412S	WDFY3_ENST00000295888.4_Missense_Mutation_p.A1412S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1412						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGATGGCTGCAGCTCCACCA	0.478													29	61					2.47511e-08	3.81724e-08	1	0	A	85701392	C	A	85701392	3	1	257	1	0	0	0	0	1	0	0	0	17366	710	25	4	6518	4	WDFY3	4	85701392	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	32840585	85701392	105452884	75	46023											
TBC1D9	23158	broad.mit.edu	37	chr4	141543569	141543569	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagtgccgccgtgcccTggccgctccgcaccaggacc	4	4	15	18	4	0	0	0	0	0	0	1	1	1	1	7	4	2	3	7	4	0	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:141543569T>A	ENST00000442267.2	-	21	3655	c.3581A>T	c.(3580-3582)cAg>cTg	p.Q1194L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1194						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CGCCGTGCCCTGGCCGCTCCG	0.667													6	32					0	0	0	0	A	141543569	T	A	141543569	3	1	257	1	0	0	0	0	1	0	0	0	15721	1580	55	5	223	5	TBC1D9	4	141543569	Missense_Mutation	SNP	T	TCGA-CV-6942-01A-21D-2012-08	55842177	141543569	49610707	76	46024											
LRBA	987	broad.mit.edu	37	chr4	151271210	151271210	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcataggtcaagtaatagaaCacattgagggctcggacagc	14	8	11	8	1	2	2	2	1	0	1	3	3	2	3	0	3	2	2	0	3	5	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:151271210C>G	ENST00000535741.1	-	48	7769	c.7296G>C	c.(7294-7296)gtG>gtC	p.V2432V	LRBA_ENST00000357115.3_Silent_p.V2443V|LRBA_ENST00000510413.1_Silent_p.V2432V|LRBA_ENST00000507224.1_Silent_p.V2432V|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2443	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGTAATAGAACACATTGAGGG	0.413													8	34					0	0	0	0	G	151271210	C	G	151271210	2	3	257	1	0	0	0	0	0	0	0	1	8995	465	17	4		4	LRBA	4	151271210	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	9727641	151271210	39883066	77	46025											
SORBS2	8470	broad.mit.edu	37	chr4	186545417	186545417	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgtcgtttaggagatcgTcacagctccgggatttgatt	8	13	12	8	4	1	2	1	1	0	1	5	4	2	3	1	2	1	2	1	2	1	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:186545417T>C	ENST00000431808.1	-	14	1717	c.1154A>G	c.(1153-1155)gAc>gGc	p.D385G	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.D289G|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.D485G|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.D385G|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	385						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGGAGATCGTCACAGCTCCG	0.532													12	36					0	0	0	0	C	186545417	T	C	186545417	3	2	257	1	0	0	0	0	1	0	0	0	15016	1667	58	5	2184	5	SORBS2	4	186545417	Missense_Mutation	SNP	T	TCGA-CV-6942-01A-21D-2012-08	35274207	186545417	4608859	78	46026											
FAT1	2195	broad.mit.edu	37	chr4	187541705	187541721	+	Frame_Shift_Del	DEL	AAAGGCTCATTGATTGG	AAAGGCTCATTGATTGG	-																															ggttgaggatgtgataaaacAaaggctcattgattggattc																										TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:187541705_187541721delAAAGGCTCATTGATTGG	ENST00000441802.2	-	10	6228_6244	c.6019_6035delCCAATCAATGAGCCTTT	c.(6019-6036)gfs	p.PINEPL2007fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2007	Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGATAAAACAAAGGCTCATTGATTGGATTCCCAATA	0.465										HNSCC(5;0.00058)			24	204	---	---	---	---					-	187541721	AAAGGCTCATTGATTGG	-	187541705	7	5	257	1	0	1	0	1	0	0	0	0	5734	131	5	0	7803	0	FAT1	4	187541705	Frame_Shift_Del	DEL	AAAGGCTCATTGATTGG	TCGA-CV-6942-01A-21D-2012-08	996288	187541705	3612571	79	46027											
SKIV2L2	23517	broad.mit.edu	37	chr5	54637510	54637510	+	Splice_Site	DEL	T	T	-																															tttttacttttttctttagaTtttgagaagtatgctttaca																										TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:54637510delT	ENST00000230640.5	+	7	946	c.690_splice	c.e7-1	p.I231_splice	SKIV2L2_ENST00000545714.1_Splice_Site_p.I130_splice	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	231	Helicase ATP-binding.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTTCTTTAGATTTTGAGAAGT	0.294													14	33	---	---	---	---					-	54637510	T	-	54637510	8	5	257	1	0	1	0	1	0	0	1	0	14448	1507	52	0	718	0	SKIV2L2	5	54637510	Splice_Site	DEL	T	TCGA-CV-6942-01A-21D-2012-08		54637510	126277750	80	46028											
MAP3K1	4214	broad.mit.edu	37	chr5	56152466	56152466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactctcaaagggttgcaCaagatggatgatcgtccaga	14	8	11	8	1	1	3	1	1	1	2	4	5	2	4	1	2	2	2	1	2	3	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:56152466C>T	ENST00000399503.3	+	2	522	c.522C>T	c.(520-522)caC>caT	p.H174H	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	174					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAGGGTTGCACAAGATGGATG	0.403													9	62					0	0	0	0	T	56152466	C	T	56152466	2	4	257	1	0	0	0	0	0	0	0	1	9312	477	17	4		4	MAP3K1	5	56152466	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	1514956	56152466	124762794	81	46029											
MAST4	375449	broad.mit.edu	37	chr5	66409957	66409957	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actacctattggaagcagcaGaaggccatgccaaagaagga	16	5	11	9	0	0	2	0	0	0	2	0	4	0	4	3	3	4	2	3	3	6	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:66409957G>C	ENST00000404260.3	+	12	1818	c.1510G>C	c.(1510-1512)Gaa>Caa	p.E504Q	MAST4_ENST00000405643.1_Missense_Mutation_p.E322Q|MAST4_ENST00000403625.2_Missense_Mutation_p.E501Q|MAST4_ENST00000490016.2_Missense_Mutation_p.E312Q|MAST4_ENST00000403666.1_Missense_Mutation_p.E312Q|MAST4_ENST00000261569.7_Missense_Mutation_p.E307Q			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	504						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGAAGCAGCAGAAGGCCATGC	0.438													14	38					0	0	0	0	C	66409957	G	C	66409957	3	2	257	1	0	0	0	0	1	0	0	0	9396	943	33	2	1677	2	MAST4	5	66409957	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	10257491	66409957	114505303	82	46030											
FAM169A	26049	broad.mit.edu	37	chr5	74077286	74077286	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catccactttcttcttccttCaggtcagcttagctttcttc	5	18	4	14	0	5	0	2	0	3	0	8	0	7	0	2	1	2	2	2	1	1	7			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:74077286C>G	ENST00000389156.4	-	13	2102	c.2012G>C	c.(2011-2013)tGa>tCa	p.*671S	FAM169A_ENST00000510496.1_Nonstop_Mutation_p.*611S|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	0										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						CTTCTTCCTTCAGGTCAGCTT	0.388													29	120					0	0	0	0	G	74077286	C	G	74077286	4	3	257	1	0	0	0	0	0	0	0	0	5528	837	29	2	4	2	FAM169A	5	74077286	Nonstop_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	7667329	74077286	106837974	83	46031											
COL4A3BP	10087	broad.mit.edu	37	chr5	74722220	74722220	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagaggtggatgttgcAgagtagccacttgctccaga	12	9	13	7	0	0	4	0	1	0	3	1	5	1	5	2	2	3	4	2	2	3	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:74722220A>T	ENST00000380494.5	-	5	1109	c.816T>A	c.(814-816)tcT>tcA	p.S272S	COL4A3BP_ENST00000261415.7_Silent_p.S144S|COL4A3BP_ENST00000405807.4_Silent_p.S144S	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	144					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TGGATGTTGCAGAGTAGCCAC	0.398													6	82					0	0	0	0	T	74722220	A	T	74722220	2	4	257	1	0	0	0	0	0	0	0	1	3722	175	7	5		5	COL4A3BP	5	74722220	Silent	SNP	A	TCGA-CV-6942-01A-21D-2012-08	644934	74722220	106193040	84	46032											
CATSPER3	347732	broad.mit.edu	37	chr5	134305780	134305780	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgcttgttcagacttcttGaggtaagcagacaaaatggg	12	10	11	8	1	2	3	1	1	1	2	2	3	2	3	1	2	1	4	1	2	3	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:134305780G>C	ENST00000282611.6	+	2	336	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	CATSPER3_ENST00000511235.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	84					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGACTTCTTGAGGTAAGCAG	0.333													15	81					0	0	0	0	C	134305780	G	C	134305780	3	2	257	1	0	0	0	0	1	0	0	0	2714	1291	45	2	256	2	CATSPER3	5	134305780	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	59583560	134305780	46609480	85	46033											
ANKHD1	54882	broad.mit.edu	37	chr5	139825539	139825539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaattcaaagaaagtgctCtaacacttgcttgctacaaa	16	11	6	8	0	2	2	1	1	1	1	2	2	2	2	0	0	5	3	0	0	6	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:139825539C>G	ENST00000297183.6	+	6	1250	c.1126C>G	c.(1126-1128)Cta>Gta	p.L376V	ANKHD1_ENST00000360839.2_Missense_Mutation_p.L376V|ANKHD1_ENST00000394722.3_Missense_Mutation_p.L365V|ANKHD1_ENST00000394723.3_Missense_Mutation_p.L376V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L376V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAAGTGCTCTAACACTTGC	0.348													7	21					0	0	0	0	G	139825539	C	G	139825539	3	3	257	1	0	0	0	0	1	0	0	0	628	912	32	2	1148	2	ANKHD1	5	139825539	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	5519759	139825539	41089721	86	46034											
PCDHB4	56131	broad.mit.edu	37	chr5	140502282	140502282	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatcctgatcatggacatCaatgacaatgctcctgagtt	12	11	8	10	1	2	3	2	3	0	0	4	5	4	4	2	1	1	2	2	1	3	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:140502282C>A	ENST00000194152.1	+	1	702	c.702C>A	c.(700-702)atC>atA	p.I234I		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		234	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.I234I(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCATGGACATCAATGACAATG	0.527													23	105					3.62473e-10	5.71091e-10	1	0	A	140502282	C	A	140502282	2	1	257	1	0	0	0	0	0	0	0	1	11615	816	29	2		2	PCDHB4	5	140502282	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	676743	140502282	40412978	87	46035											
PCDH1	5097	broad.mit.edu	37	chr5	141243981	141243981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattctcccccttgtctcCatcaatgacagtcaccatgc	8	11	6	16	0	4	1	2	1	2	0	6	1	4	1	4	1	1	1	4	1	1	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:141243981C>T	ENST00000287008.3	-	3	2062	c.1915G>A	c.(1915-1917)Gga>Aga	p.G639R	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.G627R|PCDH1_ENST00000394536.3_Missense_Mutation_p.G639R|PCDH1_ENST00000536585.1_Missense_Mutation_p.G617R|PCDH1_ENST00000511044.1_5'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	639	Cadherin 6.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCCTTGTCTCCATCAATGACA	0.517													16	62					0	0	0	0	T	141243981	C	T	141243981	3	4	257	1	0	0	0	0	1	0	0	0	11577	603	21	4	1894	4	PCDH1	5	141243981	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	741699	141243981	39671279	88	46036											
NSD1	64324	broad.mit.edu	37	chr5	176721768	176721768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acctaactcctcgccagaagGagcgggcagcttcacctcat	10	7	9	15	2	2	1	2	0	0	1	4	2	3	2	4	2	3	2	4	2	2	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:176721768G>C	ENST00000439151.2	+	23	7444	c.7399G>C	c.(7399-7401)Gag>Cag	p.E2467Q	NSD1_ENST00000347982.4_Missense_Mutation_p.E2198Q|NSD1_ENST00000354179.4_Missense_Mutation_p.E2198Q|NSD1_ENST00000361032.4_Missense_Mutation_p.E2364Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2467					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCGCCAGAAGGAGCGGGCAGC	0.502			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	60					0	0	0	0	C	176721768	G	C	176721768	3	2	257	1	0	0	0	0	1	0	0	0	10740	1175	41	2	7485	2	NSD1	5	176721768	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	35477787	176721768	4193492	89	46037											
JARID2	3720	broad.mit.edu	37	chr6	15508627	15508627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttctacctcatgctggtctCgagaccaaaatcaccttcca	10	12	5	14	1	4	1	2	0	2	1	6	2	5	1	4	1	2	1	4	1	3	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:15508627C>G	ENST00000341776.2	+	12	3032	c.2788C>G	c.(2788-2790)Cga>Gga	p.R930G	JARID2_ENST00000541660.1_Missense_Mutation_p.R892G|JARID2_ENST00000397311.3_Missense_Mutation_p.R758G	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	930	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATGCTGGTCTCGAGACCAAAA	0.463													12	47					0	0	0	0	G	15508627	C	G	15508627	3	3	257	1	0	0	0	0	1	0	0	0	7998	876	31	3	2834	3	JARID2	6	15508627	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08		15508627	155606440	90	46038											
KIAA0319	9856	broad.mit.edu	37	chr6	24596166	24596166	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttctttctccaacacctCtcctgaagatggagtagtcg	8	14	7	12	1	3	2	0	1	3	1	6	3	3	3	3	1	1	1	3	1	3	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:24596166C>G	ENST00000535378.1	-	4	1351	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	KIAA0319_ENST00000537886.1_Missense_Mutation_p.E246Q|KIAA0319_ENST00000543707.1_Missense_Mutation_p.E246Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E201Q|KIAA0319_ENST00000378214.3_Missense_Mutation_p.E246Q	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	246					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCCAACACCTCTCCTGAAGAT	0.527													20	91					0	0	0	0	G	24596166	C	G	24596166	3	3	257	1	0	0	0	0	1	0	0	0	8219	922	32	2	2558	2	KIAA0319	6	24596166	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	9087539	24596166	146518901	91	46039											
HIST1H2BH	8345	broad.mit.edu	37	chr6	26252092	26252092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cctttgtcaacgatatcttcGagcgcatcgccggcgaggct	7	10	11	13	6	2	0	1	0	1	0	4	3	2	0	2	2	2	2	2	2	2	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:26252092G>C	ENST00000356350.2	+	1	214	c.214G>C	c.(214-216)Gag>Cag	p.E72Q		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	72					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CGATATCTTCGAGCGCATCGC	0.577													22	142					0	0	0	0	C	26252092	G	C	26252092	3	2	257	1	0	0	0	0	1	0	0	0	7197	1059	37	3	216	3	HIST1H2BH	6	26252092	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	1655926	26252092	144862975	92	46040											
SCAND3	114821	broad.mit.edu	37	chr6	28554275	28554275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactgacggcaaagttcccGcagttgactcagagcctccc	9	7	9	16	2	1	3	1	2	0	1	3	3	3	3	4	1	1	4	4	1	1	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:28554275G>A	ENST00000452236.2	-	1	837	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	74	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CAAAGTTCCCGCAGTTGACTC	0.542													17	77					0	0	0	0	A	28554275	G	A	28554275	3	1	257	1	0	0	0	0	1	0	0	0	13962	1086	38	1	3773	1	SCAND3	6	28554275	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	2302183	28554275	142560792	93	46041											
OR14J1	442191	broad.mit.edu	37	chr6	29274829	29274829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgtcttatgacaggtaCgcagcaatctgtcaaccact	11	11	9	10	1	3	2	1	2	2	0	3	2	3	2	1	1	3	3	1	1	4	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:29274829C>T	ENST00000377160.2	+	1	427	c.363C>T	c.(361-363)taC>taT	p.Y121Y		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ATGACAGGTACGCAGCAATCT	0.478													29	87					0	0	0	0	T	29274829	C	T	29274829	2	4	257	1	0	0	0	0	0	0	0	1	11019	547	19	1		1	OR14J1	6	29274829	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	720554	29274829	141840238	94	46042											
SKIV2L	6499	broad.mit.edu	37	chr6	31934521	31934521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagtcccagttccgcctCacgtacactatgatcctcaa	9	10	6	16	2	2	1	2	1	0	0	5	1	5	1	4	0	2	3	4	0	3	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:31934521C>T	ENST00000375394.2	+	19	2351	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L	SKIV2L_ENST00000544581.1_Silent_p.L553L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	746	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AGTTCCGCCTCACGTACACTA	0.567													23	124					0	0	0	0	T	31934521	C	T	31934521	2	4	257	1	0	0	0	0	0	0	0	1	14447	813	29	2		2	SKIV2L	6	31934521	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	2659692	31934521	139180546	95	46043											
SKIV2L	6499	broad.mit.edu	37	chr6	31934894	31934894	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagctggggggaggaactGacagagacccagcacatgat	13	5	14	9	0	0	3	0	2	0	1	0	6	0	5	1	4	4	2	1	4	2	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:31934894G>C	ENST00000375394.2	+	20	2567	c.2454G>C	c.(2452-2454)ctG>ctC	p.L818L	SKIV2L_ENST00000544581.1_Silent_p.L625L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	818						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGGAGGAACTGACAGAGACCC	0.537													16	77					0	0	0	0	C	31934894	G	C	31934894	2	2	257	1	0	0	0	0	0	0	0	1	14447	1277	45	2		2	SKIV2L	6	31934894	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	373	31934894	139180173	96	46044											
SLC26A8	116369	broad.mit.edu	37	chr6	35980126	35980126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaagattgtaagcacgcatCgtaggaacctgtgccatgag	13	8	12	8	2	0	2	0	1	0	1	1	4	0	3	2	1	3	4	2	1	4	3	rs116146081	by1000genomes	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:35980126C>T	ENST00000490799.1	-	3	565	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	SLC26A8_ENST00000394602.2_Missense_Mutation_p.R71Q|SLC26A8_ENST00000355574.2_Missense_Mutation_p.R71Q	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	71					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AAGCACGCATCGTAGGAACCT	0.463													17	94					0	0	0	0	T	35980126	C	T	35980126	3	4	257	1	0	0	0	0	1	0	0	0	14611	884	31	1	2772	1	SLC26A8	6	35980126	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	4045232	35980126	135134941	97	46045											
GPR115	221393	broad.mit.edu	37	chr6	47678616	47678616	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcctttctgtggaaaaactCtttaaggtgatgcattcaca	12	13	8	8	0	3	1	1	1	2	0	3	2	3	2	1	2	3	1	1	2	3	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:47678616C>G	ENST00000283303.2	+	4	552	c.294C>G	c.(292-294)ctC>ctG	p.L98L	GPR115_ENST00000327753.3_Silent_p.L98L|GPR115_ENST00000371220.1_Silent_p.L155L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	98					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGGAAAAACTCTTTAAGGTGA	0.373													9	39					0	0	0	0	G	47678616	C	G	47678616	2	3	257	1	0	0	0	0	0	0	0	1	6681	900	32	2		2	GPR115	6	47678616	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	11698490	47678616	123436451	98	46046											
RAB23	51715	broad.mit.edu	37	chr6	57075104	57075104	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgcaatatcgctgaatCatacttgattttccaactgc	10	15	5	11	1	1	2	1	2	0	0	3	2	2	2	2	0	4	2	2	0	5	6			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:57075104C>A	ENST00000317483.3	-	2	694	c.75G>T	c.(73-75)atG>atT	p.M25I	RAB23_ENST00000468148.1_Missense_Mutation_p.M25I	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	25					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATCGCTGAATCATACTTGATT	0.378													21	79					7.45023e-12	1.19971e-11	1	0	A	57075104	C	A	57075104	3	1	257	1	0	0	0	0	1	0	0	0	12992	826	29	2	662	2	RAB23	6	57075104	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	9396488	57075104	114039963	99	46047											
AHI1	54806	broad.mit.edu	37	chr6	135787271	135787271	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccttattctcaggagtttCcggtttcaggtcttgtgtag	7	16	10	8	1	3	0	2	0	2	0	5	1	4	1	2	3	1	3	2	3	3	6			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:135787271C>A	ENST00000367800.4	-	5	646	c.430G>T	c.(430-432)Gaa>Taa	p.E144*	AHI1_ENST00000327035.6_Nonsense_Mutation_p.E144*|AHI1_ENST00000457866.2_Nonsense_Mutation_p.E144*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	144						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TCAGGAGTTTCCGGTTTCAGG	0.438													37	107					3.03874e-20	5.00364e-20	1	0	A	135787271	C	A	135787271	4	1	257	1	0	0	0	0	0	1	0	0	413	864	30	2	3309	2	AHI1	6	135787271	Nonsense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	78712167	135787271	35327796	100	46048											
SYNE1	23345	broad.mit.edu	37	chr6	152470722	152470722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcgctgcatccaagggctCactcttttctatcagctgtt	7	14	8	12	1	4	0	2	0	2	0	6	1	5	0	1	1	2	5	1	1	2	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:152470722C>T	ENST00000367255.5	-	136	25133	c.24532G>A	c.(24532-24534)Gag>Aag	p.E8178K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E8178K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7790K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E8107K|SYNE1_ENST00000539504.1_Missense_Mutation_p.E333K|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2702K|SYNE1_ENST00000354674.4_Missense_Mutation_p.E333K|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.E8107K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8178					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCAAGGGCTCACTCTTTTCT	0.478										HNSCC(10;0.0054)			20	62					0	0	0	0	T	152470722	C	T	152470722	3	4	257	1	0	0	0	0	1	0	0	0	15536	835	29	2	1978	2	SYNE1	6	152470722	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	16683451	152470722	18644345	101	46049											
OSBPL3	26031	broad.mit.edu	37	chr7	24905839	24905839	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgatacccactcatcaaaGacttcttctgacttgaccta	11	13	4	13	1	4	3	2	2	2	1	5	4	4	3	2	0	1	0	2	0	3	6			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:24905839G>A	ENST00000313367.2	-	6	850	c.399C>T	c.(397-399)gtC>gtT	p.V133V	OSBPL3_ENST00000352860.1_Silent_p.V133V|OSBPL3_ENST00000431825.2_Silent_p.V133V|OSBPL3_ENST00000396431.1_Silent_p.V133V|OSBPL3_ENST00000353930.1_Silent_p.V133V|OSBPL3_ENST00000409069.1_Silent_p.V133V|OSBPL3_ENST00000396429.1_Silent_p.V133V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	133	PH.				lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACTCATCAAAGACTTCTTCTG	0.388													14	40					0	0	0	0	A	24905839	G	A	24905839	2	1	257	1	0	0	0	0	0	0	0	1	11350	929	33	2		2	OSBPL3	7	24905839	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08		24905839	134232824	102	46050											
FZD9	8326	broad.mit.edu	37	chr7	72849297	72849297	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgctggtcttcctactgctCtactacttcggcatggccag	6	12	9	14	2	2	0	0	0	2	0	4	0	3	0	2	3	4	3	2	3	3	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:72849297C>G	ENST00000344575.3	+	1	1189	c.960C>G	c.(958-960)ctC>ctG	p.L320L		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	320					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTACTGCTCTACTACTTCG	0.667													14	62					0	0	0	0	G	72849297	C	G	72849297	2	3	257	1	0	0	0	0	0	0	0	1	6185	900	32	2		2	FZD9	7	72849297	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	47943458	72849297	86289366	103	46051											
FZD9	8326	broad.mit.edu	37	chr7	72849453	72849453	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgcgctcaagaccatcgtCatcctgaccctgcgcaaggt	8	7	9	17	4	2	2	2	1	0	1	4	2	3	2	4	1	1	2	4	1	2	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:72849453C>T	ENST00000344575.3	+	1	1345	c.1116C>T	c.(1114-1116)gtC>gtT	p.V372V		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	372					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGACCATCGTCATCCTGACCC	0.662													24	42					0	0	0	0	T	72849453	C	T	72849453	2	4	257	1	0	0	0	0	0	0	0	1	6185	813	29	2		2	FZD9	7	72849453	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	156	72849453	86289210	104	46052											
PCLO	27445	broad.mit.edu	37	chr7	82763968	82763968	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgtgaaggggcaggggcTtgtttcattggggcccctgg	4	10	19	8	0	1	1	1	1	0	0	1	1	1	1	2	8	0	4	2	8	1	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:82763968T>C	ENST00000423517.2	-	3	3235	c.2898A>G	c.(2896-2898)caA>caG	p.Q966Q	PCLO_ENST00000333891.8_Silent_p.Q966Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	912	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCAGGGGCTTGTTTCATTG	0.507													9	41					0	0	0	0	C	82763968	T	C	82763968	2	2	257	1	0	0	0	0	0	0	0	1	11654	1606	56	5		5	PCLO	7	82763968	Silent	SNP	T	TCGA-CV-6942-01A-21D-2012-08	9914515	82763968	76374695	105	46053											
PCLO	27445	broad.mit.edu	37	chr7	82785588	82785588	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggactcctcccaggcaatttCtgctctgacctgaaagtgtc	8	11	9	13	0	2	2	0	2	2	0	5	3	4	3	3	2	1	2	3	2	2	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:82785588C>G	ENST00000423517.2	-	2	706	c.369G>C	c.(367-369)caG>caC	p.Q123H	PCLO_ENST00000333891.8_Missense_Mutation_p.Q123H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	123					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGGCAATTTCTGCTCTGACC	0.483													15	76					0	0	0	0	G	82785588	C	G	82785588	3	3	257	1	0	0	0	0	1	0	0	0	11654	912	32	2	15172	2	PCLO	7	82785588	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	21620	82785588	76353075	106	46054											
COL1A2	1278	broad.mit.edu	37	chr7	94057185	94057185	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttgagactcagccacccaGagtggagcagtggtaggtca	11	7	13	10	0	2	2	2	1	0	2	2	4	2	3	2	3	2	2	2	3	1	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:94057185G>C	ENST00000297268.6	+	49	3985	c.3514G>C	c.(3514-3516)Gag>Cag	p.E1172Q		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1172	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CAGCCACCCAGAGTGGAGCAG	0.468										HNSCC(75;0.22)			4	27					0	0	0	0	C	94057185	G	C	94057185	3	2	257	1	0	0	0	0	1	0	0	0	3708	943	33	2	3708	2	COL1A2	7	94057185	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	11271597	94057185	65081478	107	46055											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757817	99757817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcgctagggcctctcggcGagcccggagctcggccacag	5	7	14	15	5	1	0	0	0	1	0	4	2	1	1	3	4	2	2	3	4	1	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:99757817G>A	ENST00000360039.4	-	4	1587	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R399C|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R337C|GAL3ST4_ENST00000423751.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	399					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTCTCGGCGAGCCCGGAGC	0.612													36	102					0	0	0	0	A	99757817	G	A	99757817	3	1	257	1	0	0	0	0	1	0	0	0	6249	1058	37	1	269	1	GAL3ST4	7	99757817	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	5700632	99757817	59380846	108	46056											
CFTR	1080	broad.mit.edu	37	chr7	117149168	117149168	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttttttctggagatttaTgttctatggaatctttttat	8	23	7	3	0	3	1	0	0	3	1	3	3	3	2	0	2	0	2	0	2	4	10			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:117149168T>A	ENST00000003084.6	+	3	377	c.245T>A	c.(244-246)aTg>aAg	p.M82K	CFTR_ENST00000454343.1_Missense_Mutation_p.M82K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	82	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGAGATTTATGTTCTATGGA	0.318									Cystic Fibrosis				22	103					0	0	0	0	A	117149168	T	A	117149168	3	1	257	1	0	0	0	0	1	0	0	0	3323	1464	51	5	255	5	CFTR	7	117149168	Missense_Mutation	SNP	T	TCGA-CV-6942-01A-21D-2012-08	17391351	117149168	41989495	109	46057											
FEZF1	389549	broad.mit.edu	37	chr7	121943869	121943869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagggtatttctccaccGccgggaccaccagtttattc	9	10	9	13	2	1	1	0	0	1	1	3	2	1	2	5	2	0	2	5	2	3	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:121943869G>A	ENST00000442488.2	-	1	690	c.623C>T	c.(622-624)gCg>gTg	p.A208V	FEZF1_ENST00000331178.4_Missense_Mutation_p.A208V|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.A158V	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	208					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TTTCTCCACCGCCGGGACCAC	0.527													17	54					0	0	0	0	A	121943869	G	A	121943869	3	1	257	1	0	0	0	0	1	0	0	0	5870	1087	38	1	820	1	FEZF1	7	121943869	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	4794701	121943869	37194794	110	46058											
IQUB	154865	broad.mit.edu	37	chr7	123097516	123097516	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttccagggggaccactccagGgatttattccatctgaccat	9	11	9	12	0	1	1	0	1	1	0	4	3	4	3	5	3	0	0	5	3	1	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:123097516G>T	ENST00000466202.1	-	12	2688	c.2112C>A	c.(2110-2112)tcC>tcA	p.S704S	RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Silent_p.S704S			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	704										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ACCACTCCAGGGATTTATTCC	0.453													24	112					8.24728e-16	1.34788e-15	1	0	T	123097516	G	T	123097516	2	4	257	1	0	0	0	0	0	0	0	1	7873	1219	43	4		4	IQUB	7	123097516	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	1153647	123097516	36041147	111	46059											
TPK1	27010	broad.mit.edu	37	chr7	144380027	144380027	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctctccttcggtgatatCatataagcggttggcacctc	7	14	8	12	2	3	1	1	1	2	0	7	1	3	1	2	3	1	2	2	3	3	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:144380027C>G	ENST00000360057.3	-	4	262	c.160G>C	c.(160-162)Gat>Cat	p.D54H	TPK1_ENST00000378099.3_Missense_Mutation_p.D54H|TPK1_ENST00000538212.2_Missense_Mutation_p.M8I|TPK1_ENST00000549981.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	54					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TCGGTGATATCATATAAGCGG	0.378													42	142					0	0	0	0	G	144380027	C	G	144380027	3	3	257	1	0	0	0	0	1	0	0	0	16499	826	29	2	595	2	TPK1	7	144380027	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	21282511	144380027	14758636	112	46060											
GIMAP5	55340	broad.mit.edu	37	chr7	150439312	150439312	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaacaccaccggcattgAggattatcctagtgggcaaa	12	8	10	11	1	0	1	0	1	0	0	1	2	1	2	3	3	2	3	3	3	4	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:150439312A>G	ENST00000358647.3	+	3	452	c.85A>G	c.(85-87)Agg>Ggg	p.R29G	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCGGCATTGAGGATTATCCT	0.468													3	60					0	0	0	0	G	150439312	A	G	150439312	3	3	257	1	0	0	0	0	1	0	0	0	6433	295	11	5	91	5	GIMAP5	7	150439312	Missense_Mutation	SNP	A	TCGA-CV-6942-01A-21D-2012-08	6059285	150439312	8699351	113	46061											
PXDNL	137902	broad.mit.edu	37	chr8	52252221	52252221	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtttcctgaatttccGctgcaaacgtgctgaaatct	9	14	9	9	2	1	3	0	3	1	0	3	3	3	3	2	1	3	4	2	1	3	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:52252221G>C	ENST00000356297.4	-	21	4209	c.4109C>G	c.(4108-4110)gCg>gGg	p.A1370G	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1370					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGAATTTCCGCTGCAAACGT	0.368													21	108					0	0	0	0	C	52252221	G	C	52252221	3	2	257	1	0	0	0	0	1	0	0	0	12930	1087	38	3	294	3	PXDNL	8	52252221	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08		52252221	94111801	114	46062											
SLC7A13	157724	broad.mit.edu	37	chr8	87230021	87230021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggcataatccatgctaatGagggaaaagctcgatcagcc	15	7	10	9	1	1	1	1	1	0	0	3	3	2	2	2	2	3	3	2	2	5	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:87230021G>A	ENST00000297524.3	-	3	960	c.857C>T	c.(856-858)tCa>tTa	p.S286L	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Missense_Mutation_p.S277L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	286						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CCATGCTAATGAGGGAAAAGC	0.333													27	73					0	0	0	0	A	87230021	G	A	87230021	3	1	257	1	0	0	0	0	1	0	0	0	14783	1294	45	2	563	2	SLC7A13	8	87230021	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	34977800	87230021	59134001	115	46063											
CDH17	1015	broad.mit.edu	37	chr8	95172204	95172204	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatgggctatttaccttttTaattatgacatatccggtgt	11	17	7	6	1	0	1	0	1	0	0	1	1	1	1	2	2	1	1	2	2	6	8			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:95172204T>A	ENST00000027335.3	-	12	1670	c.1546A>T	c.(1546-1548)Aaa>Taa	p.K516*	CDH17_ENST00000441892.2_Nonsense_Mutation_p.K302*|CDH17_ENST00000450165.2_Nonsense_Mutation_p.K516*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	516	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTTACCTTTTTAATTATGACA	0.378													8	81					0	0	0	0	A	95172204	T	A	95172204	4	1	257	1	0	0	0	0	0	1	0	0	3131	1763	61	5	980	5	CDH17	8	95172204	Nonsense_Mutation	SNP	T	TCGA-CV-6942-01A-21D-2012-08	7942183	95172204	51191818	116	46064											
MTBP	27085	broad.mit.edu	37	chr8	121473491	121473491	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatgtcggatattgaatttGagttgtatcctttcatttac	10	19	7	5	1	1	2	1	2	0	0	3	3	2	3	1	1	1	2	1	1	5	9			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:121473491G>C	ENST00000305949.1	+	9	1018	c.973G>C	c.(973-975)Gag>Cag	p.E325Q		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	325					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TATTGAATTTGAGTTGTATCC	0.323													13	42					0	0	0	0	C	121473491	G	C	121473491	3	2	257	1	0	0	0	0	1	0	0	0	9982	1291	45	2	1007	2	MTBP	8	121473491	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	26301287	121473491	24890531	117	46065											
PTPRD	5789	broad.mit.edu	37	chr9	8518241	8518241	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcataatccgagtagggacTtagtccagcgacactgtagc	11	10	10	10	2	1	0	1	0	0	0	3	3	3	1	2	1	2	2	2	1	4	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:8518241T>G	ENST00000381196.4	-	18	1693	c.1150A>C	c.(1150-1152)Agt>Cgt	p.S384R	PTPRD_ENST00000486161.1_Missense_Mutation_p.S384R|PTPRD_ENST00000356435.5_Missense_Mutation_p.S384R|PTPRD_ENST00000355233.5_Missense_Mutation_p.S384R|PTPRD_ENST00000397606.3_Missense_Mutation_p.S374R|PTPRD_ENST00000397611.3_Missense_Mutation_p.S381R|PTPRD_ENST00000397617.3_Missense_Mutation_p.S374R|PTPRD_ENST00000540109.1_Missense_Mutation_p.S384R|PTPRD_ENST00000360074.4_Missense_Mutation_p.S371R|PTPRD_ENST00000537002.1_Missense_Mutation_p.S381R|PTPRD_ENST00000358503.5_Missense_Mutation_p.S371R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	384	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGTAGGGACTTAGTCCAGCG	0.463										TSP Lung(15;0.13)			24	159					0	0	0	0	G	8518241	T	G	8518241	3	3	257	1	0	0	0	0	1	0	0	0	12881	1609	56	5	4760	5	PTPRD	9	8518241	Missense_Mutation	SNP	T	TCGA-CV-6942-01A-21D-2012-08		8518241	132695190	118	46066											
CDKN2A	1029	broad.mit.edu	37	chr9	21974696	21974696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggatcggcctccgaccgTaactattcggtgcgttgggc	5	10	13	13	5	0	0	0	0	0	0	3	2	1	1	4	4	2	2	4	4	2	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:21974696T>C	ENST00000304494.5	-	1	401	c.131A>G	c.(130-132)tAc>tGc	p.Y44C	CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.Y44C|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.Y44C|CDKN2A_ENST00000498124.1_Missense_Mutation_p.Y44C	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.0(1)|p.V28_V51del(1)|p.Y44fs*76(1)|p.Y44S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTCCGACCGTAACTATTCGG	0.687		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			38	135					0	0	0	0	C	21974696	T	C	21974696	3	2	257	1	0	0	0	0	1	0	0	0	3190	1638	57	5	552	5	CDKN2A	9	21974696	Missense_Mutation	SNP	T	TCGA-CV-6942-01A-21D-2012-08	13456455	21974696	119238735	119	46067											
TAF1L	138474	broad.mit.edu	37	chr9	32630264	32630264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcccagcatcttcctcatCatcttctccttcagatataa	10	14	2	15	0	6	1	3	0	3	1	9	1	8	1	3	0	1	1	3	0	2	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:32630264C>T	ENST00000242310.4	-	1	5403	c.5314G>A	c.(5314-5316)Gat>Aat	p.D1772N		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1772					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.D1772N(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTCCTCATCATCTTCTCCT	0.463													25	103					0	0	0	0	T	32630264	C	T	32630264	3	4	257	1	0	0	0	0	1	0	0	0	15614	826	29	2	170	2	TAF1L	9	32630264	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	10655568	32630264	108583167	120	46068											
TMEM8B	51754	broad.mit.edu	37	chr9	35853523	35853523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtacgcagcgtccgccgcCggcactgctacccacccacg	7	4	10	20	6	0	0	0	0	0	0	1	0	1	0	5	1	4	4	5	1	2	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:35853523C>T	ENST00000377988.2	+	13	2393	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	TMEM8B_ENST00000377991.4_Missense_Mutation_p.R369W	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	369					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CGTCCGCCGCCGGCACTGCTA	0.607													18	50					0	0	0	0	T	35853523	C	T	35853523	3	4	257	1	0	0	0	0	1	0	0	0	16309	643	23	1	1333	1	TMEM8B	9	35853523	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	3223259	35853523	105359908	121	46069											
DAPK1	1612	broad.mit.edu	37	chr9	90296352	90296352	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcttcatccagcagctcCgacccacacagaacctgcag	11	6	7	17	1	2	1	1	0	1	1	4	3	4	1	4	0	4	3	4	0	1	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:90296352C>T	ENST00000469640.2	+	20	2410	c.2035C>T	c.(2035-2037)Cga>Tga	p.R679*	DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R679*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R679*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R679*			P53355	DAPK1_HUMAN	death-associated protein kinase 1	679					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGCAGCTCCGACCCACACA	0.502									Chronic Lymphocytic Leukemia, Familial Clustering of				32	136					0	0	0	0	T	90296352	C	T	90296352	4	4	257	1	0	0	0	0	0	1	0	0	4268	644	23	1	2109	1	DAPK1	9	90296352	Nonsense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	54442829	90296352	50917079	122	46070											
SHC3	53358	broad.mit.edu	37	chr9	91653163	91653163	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgccttgcttaacacGggccccaagggctggttctt	6	10	13	12	1	1	0	0	0	1	0	1	1	1	0	3	4	3	4	3	4	2	4	rs146503115		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:91653163G>T	ENST00000375835.4	-	11	1707	c.1401C>A	c.(1399-1401)ccC>ccA	p.P467P	SHC3_ENST00000375830.1_Silent_p.P15P|SHC3_ENST00000375831.1_Silent_p.P15P	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	467	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TGCTTAACACGGGCCCCAAGG	0.502													19	69					2.4624e-09	3.82457e-09	1	0	T	91653163	G	T	91653163	2	4	257	1	0	0	0	0	0	0	0	1	14360	1103	39	3		3	SHC3	9	91653163	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	1356811	91653163	49560268	123	46071											
C9orf152	401546	broad.mit.edu	37	chr9	112963671	112963671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccacctcagaatctgcctCttccagggacagtgagcttc	8	10	8	15	0	3	2	1	1	2	1	6	3	5	3	4	1	2	1	4	1	1	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:112963671C>T	ENST00000400613.4	-	2	886	c.277G>A	c.(277-279)Gag>Aag	p.E93K	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	93										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GAATCTGCCTCTTCCAGGGAC	0.547													13	57					0	0	0	0	T	112963671	C	T	112963671	3	4	257	1	0	0	0	0	1	0	0	0	2488	922	32	2	446	2	C9orf152	9	112963671	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	21310508	112963671	28249760	124	46072											
DFNB31	25861	broad.mit.edu	37	chr9	117187294	117187294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattccttctgttgtgagatCgccaagaaacctgtggggaa	10	12	11	8	1	1	2	0	1	1	2	3	4	2	3	3	2	1	1	3	2	4	4	rs138164522		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:117187294C>T	ENST00000362057.3	-	5	1345	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N	DFNB31_ENST00000374059.3_Missense_Mutation_p.D42N|DFNB31_ENST00000265134.6_Missense_Mutation_p.D10N	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	393					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTTGTGAGATCGCCAAGAAAC	0.537													30	90					0	0	0	0	T	117187294	C	T	117187294	3	4	257	1	0	0	0	0	1	0	0	0	4492	884	31	1	1578	1	DFNB31	9	117187294	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	4223623	117187294	24026137	125	46073											
ODF2	4957	broad.mit.edu	37	chr9	131254985	131254985	+	Missense_Mutation	SNP	G	G	A																															gttgttggtccctaggtgatGaagaccagattggaggctga																										TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:131254985G>A	ENST00000303890.5	+	18	2166	c.1581G>A	c.(1579-1581)atG>atA	p.M527I	ODF2_ENST00000546203.1_Missense_Mutation_p.M532I|ODF2_ENST00000393533.2_Missense_Mutation_p.M551I|ODF2_ENST00000448249.3_Missense_Mutation_p.M470I|ODF2_ENST00000372814.3_Missense_Mutation_p.M595I|ODF2_ENST00000372796.4_Missense_Mutation_p.M551I|ODF2_ENST00000434106.2_Missense_Mutation_p.M551I|ODF2_ENST00000351030.3_Missense_Mutation_p.M546I|ODF2_ENST00000444119.2_Missense_Mutation_p.M527I|ODF2_ENST00000372791.3_Missense_Mutation_p.M532I|ODF2_ENST00000372807.5_Missense_Mutation_p.M546I	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	551					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CCTAGGTGATGAAGACCAGAT	0.483													6	31					0	0	0	0	A	131254985	G	A	131254985	3	1	257	1	0	0	0	0	1	0	0	0	10898	1290	45	2	1766	2	ODF2	9	131254985	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	14067691	131254985	9958446	126	46074	348	2									
ODF2	4957	broad.mit.edu	37	chr9	131254993	131254993	+	Missense_Mutation	SNP	G	G	A																															tccctaggtgatgaagaccaGattggaggctgatgaagtag																										TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:131254993G>A	ENST00000303890.5	+	18	2174	c.1589G>A	c.(1588-1590)aGa>aAa	p.R530K	ODF2_ENST00000546203.1_Missense_Mutation_p.R535K|ODF2_ENST00000393533.2_Missense_Mutation_p.R554K|ODF2_ENST00000448249.3_Missense_Mutation_p.R473K|ODF2_ENST00000372814.3_Missense_Mutation_p.R598K|ODF2_ENST00000372796.4_Missense_Mutation_p.R554K|ODF2_ENST00000434106.2_Missense_Mutation_p.R554K|ODF2_ENST00000351030.3_Missense_Mutation_p.R549K|ODF2_ENST00000444119.2_Missense_Mutation_p.R530K|ODF2_ENST00000372791.3_Missense_Mutation_p.R535K|ODF2_ENST00000372807.5_Missense_Mutation_p.R549K	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	554					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATGAAGACCAGATTGGAGGCT	0.473													6	29					0	0	0	0	A	131254993	G	A	131254993	3	1	257	1	0	0	0	0	1	0	0	0	10898	942	33	2	1774	2	ODF2	9	131254993	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	8	131254993	9958438	127	46075	348	2									
LAMC3	10319	broad.mit.edu	37	chr9	133967144	133967144	+	Missense_Mutation	SNP	C	C	A																															ctggaggccattctgcacagCctgcccgagaactgtgccag																										TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:133967144C>A	ENST00000361069.4	+	28	4831	c.4698C>A	c.(4696-4698)agC>agA	p.S1566R	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1566	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTCTGCACAGCCTGCCCGAGA	0.632													11	27					1.08611e-07	1.64607e-07	1	0	A	133967144	C	A	133967144	3	1	257	1	0	0	0	0	1	0	0	0	8669	738	26	4	4808	4	LAMC3	9	133967144	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	2712151	133967144	7246287	128	46076	349	2									
LAMC3	10319	broad.mit.edu	37	chr9	133967145	133967145	+	Missense_Mutation	SNP	C	C	A																															tggaggccattctgcacagcCtgcccgagaactgtgccagc																										TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:133967145C>A	ENST00000361069.4	+	28	4832	c.4699C>A	c.(4699-4701)Ctg>Atg	p.L1567M	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1567	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCTGCACAGCCTGCCCGAGAA	0.637													11	28					1.08611e-07	1.64607e-07	1	0	A	133967145	C	A	133967145	3	1	257	1	0	0	0	0	1	0	0	0	8669	680	24	4	4809	4	LAMC3	9	133967145	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	1	133967145	7246286	129	46077	349	2									
C9orf171	389799	broad.mit.edu	37	chr9	135413023	135413023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatctgctgcagcaccGgtacctgcagctgtgggtac	6	11	12	12	1	1	1	0	1	1	0	1	1	1	1	2	2	7	7	2	2	2	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:135413023G>T	ENST00000343036.2	+	5	716	c.668G>T	c.(667-669)cGg>cTg	p.R223L	C9orf171_ENST00000393216.2_Missense_Mutation_p.R187L	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	223								p.R223Q(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCAGCACCGGTACCTGCAG	0.572													21	94					5.45024e-15	8.87437e-15	1	0	T	135413023	G	T	135413023	3	4	257	1	0	0	0	0	1	0	0	0	2495	1116	39	3	686	3	C9orf171	9	135413023	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	1445878	135413023	5800408	130	46078											
NOTCH1	4851	broad.mit.edu	37	chr9	139409118	139409118	+	Frame_Shift_Del	DEL	C	C	-																															ccccgttgtggcaggggttgCccgcacactcatcgatgttg																										TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:139409118delC	ENST00000277541.6	-	13	2126	c.2051delG	c.(2050-2052)gcfs	p.G684fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	684	EGF-like 18; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGGGGTTGCCCGCACACTC	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			8	24	---	---	---	---					-	139409118	C	-	139409118	7	5	257	1	0	1	0	1	0	0	0	0	10617	739	26	0	5704	0	NOTCH1	9	139409118	Frame_Shift_Del	DEL	C	TCGA-CV-6942-01A-21D-2012-08	3996095	139409118	1804313	131	46079											
OR13A1	79290	broad.mit.edu	37	chr10	45799190	45799190	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgatggtcatcaggaagttCactatgccgtagaaagcatc	12	9	11	9	2	3	1	3	0	0	1	4	3	3	2	1	2	2	3	1	2	4	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:45799190C>T	ENST00000553795.1	-	4	989	c.681G>A	c.(679-681)gtG>gtA	p.V227V	OR13A1_ENST00000536058.1_Silent_p.V227V|OR13A1_ENST00000374401.2_Silent_p.V227V	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCAGGAAGTTCACTATGCCGT	0.552													14	83					0	0	0	0	T	45799190	C	T	45799190	2	4	257	1	0	0	0	0	0	0	0	1	11004	813	29	2		2	OR13A1	10	45799190	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08		45799190	89735557	132	46080											
CYP2C19	1557	broad.mit.edu	37	chr10	96541716	96541716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgatggacatcaacaaccctCgggactttattgattgcttc	10	12	8	11	2	1	1	1	1	0	0	3	4	1	3	1	2	3	1	1	2	3	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:96541716C>G	ENST00000371321.3	+	5	863	c.781C>G	c.(781-783)Cgg>Ggg	p.R261G	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	261					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAACAACCCTCGGGACTTTAT	0.353													22	47					0	0	0	0	G	96541716	C	G	96541716	3	3	257	1	0	0	0	0	1	0	0	0	4198	875	31	3	799	3	CYP2C19	10	96541716	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	50742526	96541716	38993031	133	46081											
MGEA5	10724	broad.mit.edu	37	chr10	103563684	103563684	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatcataatcattagcatGaatgttatcccagattactg	13	14	6	8	0	2	3	2	2	0	1	3	3	3	3	1	0	2	2	1	0	5	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:103563684G>C	ENST00000361464.3	-	7	1239	c.844C>G	c.(844-846)Cat>Gat	p.H282D	MGEA5_ENST00000439817.1_Missense_Mutation_p.H282D|MGEA5_ENST00000370094.3_Missense_Mutation_p.H282D|MGEA5_ENST00000357797.5_Missense_Mutation_p.H282D	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	282					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TCATTAGCATGAATGTTATCC	0.398													28	117					0	0	0	0	C	103563684	G	C	103563684	3	2	257	1	0	0	0	0	1	0	0	0	9624	1290	45	2	1946	2	MGEA5	10	103563684	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	7021968	103563684	31971063	134	46082											
CNNM2	54805	broad.mit.edu	37	chr10	104678683	104678683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccggacagcggcccccagcGatgcggcatccgcacctcag	7	3	13	18	5	1	0	1	0	0	0	2	2	2	1	5	3	3	2	5	3	0	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:104678683G>C	ENST00000369878.3	+	1	570	c.446G>C	c.(445-447)cGa>cCa	p.R149P	CNNM2_ENST00000369875.3_Missense_Mutation_p.R149P|CNNM2_ENST00000433628.2_Missense_Mutation_p.R149P	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	149					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGCCCCCAGCGATGCGGCATC	0.692													36	114					0	0	0	0	C	104678683	G	C	104678683	3	2	257	1	0	0	0	0	1	0	0	0	3643	1058	37	3	448	3	CNNM2	10	104678683	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	1114999	104678683	30856064	135	46083											
MUC5B	727897	broad.mit.edu	37	chr11	1271681	1271681	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacagctaccagctttacagCcatcccctcctcctccctgg	7	9	5	20	0	0	0	0	0	0	0	4	0	4	0	7	1	5	2	7	1	2	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:1271681C>G	ENST00000447027.1	+	31	13638	c.13580C>G	c.(13579-13581)gCc>gGc	p.A4527G	MUC5B_ENST00000529681.1_Missense_Mutation_p.A4524G			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4524	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTTTACAGCCATCCCCTCC	0.627													41	71					0	0	0	0	G	1271681	C	G	1271681	3	3	257	1	0	0	0	0	1	0	0	0	10049	739	26	4	13702	4	MUC5B	11	1271681	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08		1271681	133734835	136	46084											
EIF3M	10480	broad.mit.edu	37	chr11	32615458	32615458	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattgctcggaagttacacaGaggacaatgcttcccaggct	12	9	10	10	1	0	1	0	0	0	1	2	3	1	3	1	3	3	4	1	3	4	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:32615458G>C	ENST00000531120.1	+	6	643	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	EIF3M_ENST00000524896.1_Missense_Mutation_p.E62Q	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M	194						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					AAGTTACACAGAGGACAATGC	0.398													12	26					0	0	0	0	C	32615458	G	C	32615458	3	2	257	1	0	0	0	0	1	0	0	0	5061	943	33	2	602	2	EIF3M	11	32615458	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	31343777	32615458	102391058	137	46085											
EHF	26298	broad.mit.edu	37	chr11	34668200	34668200	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggacggcggggcagctcctCtacagcaacttgcagcatct	8	7	13	13	2	2	0	0	0	2	0	3	1	3	1	1	4	6	5	1	4	2	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:34668200C>G	ENST00000257831.3	+	3	433	c.312C>G	c.(310-312)ctC>ctG	p.L104L	EHF_ENST00000530286.1_Silent_p.L104L|EHF_ENST00000533754.1_Silent_p.L104L|EHF_ENST00000531728.1_Silent_p.L104L|EHF_ENST00000450654.2_Silent_p.L104L|EHF_ENST00000527935.1_Silent_p.L104L|EHF_ENST00000531794.1_Silent_p.L126L	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	104	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGCAGCTCCTCTACAGCAACT	0.552													316	140					0	0	0	0	G	34668200	C	G	34668200	2	3	257	1	0	0	0	0	0	0	0	1	5017	900	32	2		2	EHF	11	34668200	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	2052742	34668200	100338316	138	46086											
FOLH1	2346	broad.mit.edu	37	chr11	49214404	49214404	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaatatccgaaacattttCatatcctggaggaggtggtt	12	13	9	7	1	1	0	1	0	0	0	3	3	3	2	2	4	2	1	2	4	5	6			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:49214404C>A	ENST00000340334.7	-	5	777	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.E137*|FOLH1_ENST00000256999.2_Nonsense_Mutation_p.E152*|FOLH1_ENST00000356696.3_Nonsense_Mutation_p.E152*	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	152					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GAAACATTTTCATATCCTGGA	0.323													9	108					1.61879e-10	2.55968e-10	1	0	A	49214404	C	A	49214404	4	1	257	1	0	0	0	0	0	1	0	0	6024	835	29	2	1862	2	FOLH1	11	49214404	Nonsense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	14546204	49214404	85792112	139	46087											
OR5D13	390142	broad.mit.edu	37	chr11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcgatctgcaagtgggCgccagaaaactttctccacc	11	8	10	12	2	2	2	0	0	2	2	3	3	2	2	3	1	3	1	3	1	3	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:55541619C>T	ENST00000361760.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	236			R -> L (in dbSNP:rs7124871).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408													8	67					0	0	0	0	T	55541619	C	T	55541619	3	4	257	1	0	0	0	0	1	0	0	0	11225	768	27	1	708	1	OR5D13	11	55541619	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	6327215	55541619	79464897	140	46088											
OR1S1	219959	broad.mit.edu	37	chr11	57982300	57982300	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcactgaattcattctcctGggatttttcaagcaggatga	11	14	8	8	0	4	2	3	2	1	0	5	4	4	4	1	2	1	1	1	2	2	4	rs139788490		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:57982300G>T	ENST00000309433.6	+	1	84	c.84G>T	c.(82-84)ctG>ctT	p.L28L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCATTCTCCTGGGATTTTTCA	0.423													10	108					1.76689e-08	2.73463e-08	1	0	T	57982300	G	T	57982300	2	4	257	1	0	0	0	0	0	0	0	1	11043	1335	47	4		4	OR1S1	11	57982300	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	2440681	57982300	77024216	141	46089											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62484600	62484600	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgggctgagcttcctccttCtccagctccccatatgtcac	6	12	7	16	0	2	1	1	1	1	0	6	1	5	1	5	1	2	3	5	1	1	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:62484600C>G	ENST00000301785.5	-	11	2034	c.1842G>C	c.(1840-1842)gaG>gaC	p.E614D	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E614D	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	614					cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTTCCTCCTTCTCCAGCTCCC	0.498													3	41					0	0	0	0	G	62484600	C	G	62484600	3	3	257	1	0	0	0	0	1	0	0	0	7325	912	32	2	417	2	HNRNPUL2	11	62484600	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	4502300	62484600	72521916	142	46090											
EHBP1L1	254102	broad.mit.edu	37	chr11	65349905	65349905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgggaacccaggagaaaGaagttgaggggtcagggttc	11	7	17	6	0	1	3	1	1	0	2	2	5	1	4	1	5	2	3	1	5	3	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:65349905G>C	ENST00000309295.4	+	9	2027	c.1762G>C	c.(1762-1764)Gaa>Caa	p.E588Q		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	588	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCAGGAGAAAGAAGTTGAGGG	0.562													8	43					0	0	0	0	C	65349905	G	C	65349905	3	2	257	1	0	0	0	0	1	0	0	0	5012	943	33	2	1796	2	EHBP1L1	11	65349905	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	2865305	65349905	69656611	143	46091											
CTSF	8722	broad.mit.edu	37	chr11	66332076	66332076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtcaatgagccaagggCtgcagaggggccggagaggg	10	4	19	8	1	1	3	1	1	0	2	1	4	1	3	2	6	2	2	2	6	2	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:66332076C>A	ENST00000310325.5	-	11	1383	c.1274G>T	c.(1273-1275)aGc>aTc	p.S425I		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	425					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGCCAAGGGCTGCAGAGGGG	0.627													9	3					0.000673444	0.000976717	1	0	A	66332076	C	A	66332076	3	1	257	1	0	0	0	0	1	0	0	0	4066	797	28	4	192	4	CTSF	11	66332076	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	982171	66332076	68674440	144	46092											
UCP3	7352	broad.mit.edu	37	chr11	73717291	73717291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggcgaagctcatctggCgctgcaggccggccaccagc	7	5	15	14	3	2	0	1	0	1	0	2	2	2	1	3	5	3	3	3	5	1	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:73717291C>T	ENST00000314032.4	-	3	812	c.260G>A	c.(259-261)cGc>cAc	p.R87H	UCP3_ENST00000426995.2_Missense_Mutation_p.R87H|UCP3_ENST00000348534.4_Missense_Mutation_p.R87H	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	87					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GCTCATCTGGCGCTGCAGGCC	0.647													8	33					0	0	0	0	T	73717291	C	T	73717291	3	4	257	1	0	0	0	0	1	0	0	0	17028	768	27	1	702	1	UCP3	11	73717291	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	7385215	73717291	61289225	145	46093											
PCF11	51585	broad.mit.edu	37	chr11	82880841	82880841	+	Frame_Shift_Del	DEL	A	A	-																															aggactacagttccaaagacAtgaacaaatatttgattcac																										TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:82880841delA	ENST00000298281.4	+	8	3916	c.3464delA	c.(3463-3465)ctfs	p.H1155fs		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1155					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTCCAAAGACATGAACAAATA	0.418													16	42	---	---	---	---					-	82880841	A	-	82880841	7	5	257	1	0	1	0	1	0	0	0	0	11644	217	8	0	3494	0	PCF11	11	82880841	Frame_Shift_Del	DEL	A	TCGA-CV-6942-01A-21D-2012-08	9163550	82880841	52125675	146	46094											
SIK3	23387	broad.mit.edu	37	chr11	116728595	116728595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagggatgtatccccaattCttgggcatgactcacagttc	10	12	9	10	0	2	1	1	1	1	0	4	2	3	2	2	2	0	3	2	2	3	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:116728595C>T	ENST00000375300.1	-	20	3447	c.3442G>A	c.(3442-3444)Gaa>Aaa	p.E1148K	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.E929K|SIK3_ENST00000292055.4_Missense_Mutation_p.E1090K|SIK3_ENST00000542607.1_Missense_Mutation_p.E1030K|SIK3_ENST00000375288.1_Missense_Mutation_p.E425K|SIK3_ENST00000446921.2_Missense_Mutation_p.E1088K			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1090						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATCCCCAATTCTTGGGCATGA	0.507													12	57					0	0	0	0	T	116728595	C	T	116728595	3	4	257	1	0	0	0	0	1	0	0	0	14407	922	32	2	539	2	SIK3	11	116728595	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	33847754	116728595	18277921	147	46095											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343462	130343462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcgggcggtggactgcCggggctccgccgggcagcgc	5	3	20	13	6	0	1	0	0	0	1	1	2	1	2	3	6	3	2	3	6	1	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:130343462C>T	ENST00000299164.2	+	8	2599	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	867	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGTGGACTGCCGGGGCTCCGC	0.751													5	24					0	0	0	0	T	130343462	C	T	130343462	3	4	257	1	0	0	0	0	1	0	0	0	260	643	23	1	2629	1	ADAMTS15	11	130343462	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	13614867	130343462	4663054	148	46096											
ATN1	1822	broad.mit.edu	37	chr12	7047686	7047686	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccggtggaatgcccatctCtgggcccagtgccccatcgc	5	8	11	17	2	1	0	0	0	1	0	4	1	2	1	5	3	2	0	5	3	1	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:7047686C>G	ENST00000356654.4	+	7	2797	c.2560C>G	c.(2560-2562)Ctg>Gtg	p.L854V	ATN1_ENST00000396684.2_Missense_Mutation_p.L854V	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	854					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ATGCCCATCTCTGGGCCCAGT	0.607											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	42					0	0	0	0	G	7047686	C	G	7047686	3	3	257	1	0	0	0	0	1	0	0	0	1115	912	32	2	2582	2	ATN1	12	7047686	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08		7047686	126804209	149	46097											
APOBEC1	339	broad.mit.edu	37	chr12	7818459	7818459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggatccattttacctttctCagaagtcatggtgctctgtc	7	15	8	11	1	3	1	2	0	2	1	6	2	4	2	2	2	2	1	2	2	2	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:7818459C>T	ENST00000229304.4	-	1	30	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	4					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTACCTTTCTCAGAAGTCATG	0.488													24	126					0	0	0	0	T	7818459	C	T	7818459	3	4	257	1	0	0	0	0	1	0	0	0	789	835	29	2	720	2	APOBEC1	12	7818459	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	770773	7818459	126033436	150	46098											
SLCO1B1	10599	broad.mit.edu	37	chr12	21377664	21377664	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctattacaggaggaattCtagctccaatatattttggg	11	14	8	8	0	1	0	0	0	1	0	3	2	3	2	2	3	2	1	2	3	7	8			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:21377664C>G	ENST00000256958.2	+	14	1852	c.1756C>G	c.(1756-1758)Cta>Gta	p.L586V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	586					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AGGAGGAATTCTAGCTCCAAT	0.358													21	67					0	0	0	0	G	21377664	C	G	21377664	3	3	257	1	0	0	0	0	1	0	0	0	14811	912	32	2	1806	2	SLCO1B1	12	21377664	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	13559205	21377664	112474231	151	46099											
SOX5	6660	broad.mit.edu	37	chr12	23998941	23998941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggctcgtttttgatgagctCttccattttcctctgcttca	4	18	7	12	2	3	2	1	2	2	0	6	2	5	2	2	1	2	4	2	1	0	6			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:23998941C>G	ENST00000546136.1	-	2	420	c.418G>C	c.(418-420)Gag>Cag	p.E140Q	SOX5_ENST00000541847.1_Missense_Mutation_p.E143Q|SOX5_ENST00000451604.2_Missense_Mutation_p.E153Q|SOX5_ENST00000541536.1_Missense_Mutation_p.E140Q|SOX5_ENST00000537393.1_Missense_Mutation_p.E118Q|SOX5_ENST00000381381.2_Missense_Mutation_p.E140Q|SOX5_ENST00000309359.1_Missense_Mutation_p.E140Q|SOX5_ENST00000545921.1_Missense_Mutation_p.E143Q|SOX5_ENST00000441133.2_Missense_Mutation_p.E118Q			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	153					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTGATGAGCTCTTCCATTTTC	0.438													17	85					0	0	0	0	G	23998941	C	G	23998941	3	3	257	1	0	0	0	0	1	0	0	0	15042	922	32	2	1896	2	SOX5	12	23998941	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	2621277	23998941	109852954	152	46100											
STAT6	6778	broad.mit.edu	37	chr12	57500498	57500498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggccagcctcagcccccttCtgcagggcttctcggagaag	6	8	12	15	1	3	1	1	0	2	1	4	2	3	1	4	3	3	2	4	3	1	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:57500498C>G	ENST00000300134.3	-	5	781	c.456G>C	c.(454-456)caG>caC	p.Q152H	STAT6_ENST00000543873.2_Missense_Mutation_p.Q152H|STAT6_ENST00000538913.2_Missense_Mutation_p.Q42H|STAT6_ENST00000454075.3_Missense_Mutation_p.Q152H|STAT6_ENST00000537215.2_Missense_Mutation_p.Q42H|STAT6_ENST00000556155.1_Missense_Mutation_p.Q152H	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	152					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAGCCCCCTTCTGCAGGGCTT	0.567													55	122					0	0	0	0	G	57500498	C	G	57500498	3	3	257	1	0	0	0	0	1	0	0	0	15360	912	32	2	2159	2	STAT6	12	57500498	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	33501557	57500498	76351397	153	46101											
GLI1	2735	broad.mit.edu	37	chr12	57864291	57864291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcccagcactacctgcttCgggcaagatatgcttcagcc	8	9	9	15	1	1	1	1	0	0	1	2	1	1	1	3	1	6	4	3	1	3	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:57864291C>T	ENST00000228682.2	+	12	1859	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	GLI1_ENST00000546141.1_Missense_Mutation_p.R549W|GLI1_ENST00000543426.1_Missense_Mutation_p.R462W	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	590					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTACCTGCTTCGGGCAAGATA	0.632													13	63					0	0	0	0	T	57864291	C	T	57864291	3	4	257	1	0	0	0	0	1	0	0	0	6488	875	31	1	1810	1	GLI1	12	57864291	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	363793	57864291	75987604	154	46102											
CYP27B1	1594	broad.mit.edu	37	chr12	58158990	58158990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gagccgagcagaaccgcggcGatgccttgtcgggagggggc	7	4	19	11	5	0	1	0	0	0	1	1	5	0	2	3	4	4	1	3	4	1	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:58158990G>C	ENST00000228606.4	-	4	803	c.594C>G	c.(592-594)atC>atG	p.I198M	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	198					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GAACCGCGGCGATGCCTTGTC	0.692											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	32					0	0	0	0	C	58158990	G	C	58158990	3	2	257	1	0	0	0	0	1	0	0	0	4191	1048	37	3	956	3	CYP27B1	12	58158990	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	294699	58158990	75692905	155	46103											
DPY19L2	283417	broad.mit.edu	37	chr12	64061889	64061890	+	Frame_Shift_Ins	INS	-	-	T																															gcgcctgcagttcctgcaccINSttttcccggagctgcgccag																										TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:64061889_64061890insT	ENST00000324472.4	-	1	467_468	c.284_285insA	c.(283-285)agtfs	p.S95fs	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	95					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GTTCCTGCACCTTTTCCCGGAG	0.609													8	125	---	---	---	---					T	64061890	-	T	64061889	7	5	257	1	0	1	1	0	0	0	0	0	4777	680	24	0	2079	0	DPY19L2	12	64061889	Frame_Shift_Ins	INS	-	TCGA-CV-6942-01A-21D-2012-08	5902899	64061889	69790006	156	46104											
DUSP6	1848	broad.mit.edu	37	chr12	89745576	89745576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgaagcggtcccggtcctCgccgcgcgtgaagagcgcgc	5	5	17	14	8	0	3	0	2	0	1	3	3	2	3	3	3	2	0	3	3	2	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:89745576C>T	ENST00000279488.7	-	1	1472	c.241G>A	c.(241-243)Gag>Aag	p.E81K	DUSP6_ENST00000308385.6_Missense_Mutation_p.E81K	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	81	Rhodanese.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TCCCGGTCCTCGCCGCGCGTG	0.677													4	28					0	0	0	0	T	89745576	C	T	89745576	3	4	257	1	0	0	0	0	1	0	0	0	4865	893	31	1	916	1	DUSP6	12	89745576	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	25683687	89745576	44106319	157	46105											
COQ5	84274	broad.mit.edu	37	chr12	120941685	120941685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctatcatgtccttgaactCttcctgaaacacaaggaaag	13	12	6	10	0	3	2	1	2	2	0	5	3	5	3	2	1	2	0	2	1	5	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:120941685C>T	ENST00000288532.6	-	7	926	c.886G>A	c.(886-888)Gag>Aag	p.E296K	COQ5_ENST00000445328.2_Missense_Mutation_p.E222K	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	296					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTTGAACTCTTCCTGAAAC	0.413													20	70					0	0	0	0	T	120941685	C	T	120941685	3	4	257	1	0	0	0	0	1	0	0	0	3778	922	32	2	101	2	COQ5	12	120941685	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	31196109	120941685	12910210	158	46106											
TMEM132D	121256	broad.mit.edu	37	chr12	129694177	129694177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacggccaccgtcttccccGtgaggatggctgtgttcagg	5	9	15	12	3	2	1	1	1	1	0	3	3	3	3	4	5	0	2	4	5	0	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:129694177G>A	ENST00000422113.2	-	5	1657	c.1331C>T	c.(1330-1332)aCg>aTg	p.T444M	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	444						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGTCTTCCCCGTGAGGATGGC	0.592													11	39					0	0	0	0	A	129694177	G	A	129694177	3	1	257	1	0	0	0	0	1	0	0	0	16141	1145	40	1	1988	1	TMEM132D	12	129694177	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	8752492	129694177	4157718	159	46107											
TUBA3C	7278	broad.mit.edu	37	chr13	19753481	19753481	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggacccgagcacctacCgaccacagtgggctccaggt	9	5	11	16	2	0	0	0	0	0	0	2	3	2	1	6	3	2	2	6	3	1	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr13:19753481C>T	ENST00000400113.3	-	2	330	c.226_splice	c.e2+1	p.D76_splice		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	76					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.D76N(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAGCACCTACCGACCACAGTG	0.587													7	67					0	0	0	0	T	19753481	C	T	19753481	5	4	257	1	0	0	0	0	0	0	1	0	16842	666	23	1	1142	1	TUBA3C	13	19753481	Splice_Site	SNP	C	TCGA-CV-6942-01A-21D-2012-08		19753481	95416397	160	46108											
CDADC1	81602	broad.mit.edu	37	chr13	49852553	49852553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgcttttcctgttggatCtgagtatgctgacttcccac	7	15	8	11	0	1	2	0	2	1	0	3	3	3	3	2	1	2	4	2	1	2	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr13:49852553C>A	ENST00000251108.6	+	7	1231	c.1118C>A	c.(1117-1119)tCt>tAt	p.S373Y	CDADC1_ENST00000444959.1_Missense_Mutation_p.S175Y	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	373							hydrolase activity|zinc ion binding	p.S373Y(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		CCTGTTGGATCTGAGTATGCT	0.413													34	115					4.31634e-10	6.77618e-10	1	0	A	49852553	C	A	49852553	3	1	257	1	0	0	0	0	1	0	0	0	3082	913	32	2	1144	2	CDADC1	13	49852553	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	30099072	49852553	65317325	161	46109											
RNASE4	6038	broad.mit.edu	37	chr14	21167749	21167749	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaagcgcttcaacaccttCatccatgaagatatctggaa	13	10	7	11	1	3	2	2	1	1	1	4	3	4	3	2	1	3	2	2	1	5	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:21167749C>T	ENST00000555835.1	+	2	895	c.219C>T	c.(217-219)ttC>ttT	p.F73F	AL163636.6_ENST00000553909.1_RNA|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Silent_p.F73F|RNASE4_ENST00000555597.1_Silent_p.F73F|RNASE4_ENST00000304704.4_Silent_p.F73F	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	73					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		TCAACACCTTCATCCATGAAG	0.478													26	109					0	0	0	0	T	21167749	C	T	21167749	2	4	257	1	0	0	0	0	0	0	0	1	13491	825	29	2		2	RNASE4	14	21167749	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08		21167749	86181791	162	46110											
SOS2	6655	broad.mit.edu	37	chr14	50655405	50655405	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtcatcctgatcaaacAtgtccatcaaaacctgagaa	15	10	5	11	0	3	2	3	2	0	1	5	3	5	2	3	0	2	0	3	0	5	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:50655405A>C	ENST00000216373.5	-	5	798	c.524T>G	c.(523-525)aTg>aGg	p.M175R	SOS2_ENST00000543680.1_Missense_Mutation_p.M175R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	175					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTGATCAAACATGTCCATCAA	0.313													8	29					0	0	0	0	C	50655405	A	C	50655405	3	2	257	1	0	0	0	0	1	0	0	0	15025	217	8	5	3550	5	SOS2	14	50655405	Missense_Mutation	SNP	A	TCGA-CV-6942-01A-21D-2012-08	29487656	50655405	56694135	163	46111											
NIN	51199	broad.mit.edu	37	chr14	51233551	51233551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtttgtttgtcagattctCatattctgccaacttctctg	8	18	6	9	0	4	1	2	0	3	1	6	1	4	1	1	0	2	2	1	0	3	6			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:51233551C>G	ENST00000245441.5	-	13	1682	c.1492G>C	c.(1492-1494)Gag>Cag	p.E498Q	NIN_ENST00000324330.9_Missense_Mutation_p.E498Q|NIN_ENST00000530997.2_Missense_Mutation_p.E498Q|NIN_ENST00000453196.1_Missense_Mutation_p.E498Q|NIN_ENST00000389868.3_Missense_Mutation_p.E498Q|NIN_ENST00000382041.3_Missense_Mutation_p.E498Q|NIN_ENST00000382043.4_Missense_Mutation_p.E498Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	498					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTCAGATTCTCATATTCTGCC	0.358			T	PDGFRB	MPD								50	81					0	0	0	0	G	51233551	C	G	51233551	3	3	257	1	0	0	0	0	1	0	0	0	10487	835	29	2	5133	2	NIN	14	51233551	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	578146	51233551	56115989	164	46112											
SLC8A3	6547	broad.mit.edu	37	chr14	70518746	70518746	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgatgacttctagtttGgggtgttcacccaatactgg	9	14	10	8	0	3	2	2	2	1	0	3	2	3	2	1	3	1	2	1	3	4	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:70518746G>T	ENST00000381269.2	-	5	2745	c.1992C>A	c.(1990-1992)ccC>ccA	p.P664P	SLC8A3_ENST00000356921.2_Silent_p.P658P|SLC8A3_ENST00000216568.7_Silent_p.P35P|SLC8A3_ENST00000357887.3_Silent_p.P662P|SLC8A3_ENST00000394330.2_Silent_p.P21P|SLC8A3_ENST00000534137.1_Silent_p.P661P|SLC8A3_ENST00000533541.1_Silent_p.P21P|SLC8A3_ENST00000528359.1_Silent_p.P662P	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	664					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTTCTAGTTTGGGGTGTTCAC	0.428													27	59					1.7367e-05	2.56119e-05	1	0	T	70518746	G	T	70518746	2	4	257	1	0	0	0	0	0	0	0	1	14796	1335	47	4		4	SLC8A3	14	70518746	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	19285195	70518746	36830794	165	46113											
HEATR4	399671	broad.mit.edu	37	chr14	73989500	73989500	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgaggaacccaggaacttGaagctaacaggtttctgagg	12	9	12	8	0	1	3	0	3	1	0	1	5	1	5	1	4	4	2	1	4	4	4	rs150475805		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:73989500G>A	ENST00000553558.1	-	3	678	c.357C>T	c.(355-357)ttC>ttT	p.F119F	HEATR4_ENST00000334988.2_Silent_p.F119F|HEATR4_ENST00000560393.1_Silent_p.F72F	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CCAGGAACTTGAAGCTAACAG	0.488													16	78					0	0	0	0	A	73989500	G	A	73989500	2	1	257	1	0	0	0	0	0	0	0	1	7080	1281	45	2		2	HEATR4	14	73989500	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	3470754	73989500	33360040	166	46114											
TJP1	7082	broad.mit.edu	37	chr15	30008860	30008860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgattctgagaatgcgctGgctttgcaggctcggagaga	9	11	14	7	2	1	3	0	2	1	2	2	6	1	4	0	3	2	4	0	3	1	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:30008860G>A	ENST00000346128.6	-	23	4631	c.4157C>T	c.(4156-4158)cCa>cTa	p.P1386L	TJP1_ENST00000356107.6_Missense_Mutation_p.P1386L|TJP1_ENST00000545208.2_Missense_Mutation_p.P1306L|TJP1_ENST00000400011.2_Missense_Mutation_p.P1310L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1386					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGAATGCGCTGGCTTTGCAGG	0.408													12	43					0	0	0	0	A	30008860	G	A	30008860	3	1	257	1	0	0	0	0	1	0	0	0	16023	1348	47	4	1113	4	TJP1	15	30008860	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08		30008860	72522532	167	46115											
TRPM1	4308	broad.mit.edu	37	chr15	31358388	31358388	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccaggatgaagtgggtgtgGgagttgttgagcacagagag	10	8	19	4	0	0	3	0	2	0	1	0	6	0	5	1	3	1	3	1	3	1	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:31358388G>A	ENST00000542188.1	-	6	1045	c.732C>T	c.(730-732)tcC>tcT	p.S244S	TRPM1_ENST00000256552.6_Silent_p.S227S|TRPM1_ENST00000397795.2_Silent_p.S205S	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	205					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGTGGGTGTGGGAGTTGTTGA	0.537													16	94					0	0	0	0	A	31358388	G	A	31358388	2	1	257	1	0	0	0	0	0	0	0	1	16680	1219	43	4		4	TRPM1	15	31358388	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	1349528	31358388	71173004	168	46116											
AQR	9716	broad.mit.edu	37	chr15	35189848	35189848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttcctcggtgtcttcatCttccacatccgcatctttcc	4	16	5	16	2	4	0	1	0	3	0	9	0	8	0	4	1	1	2	4	1	0	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:35189848C>G	ENST00000156471.5	-	21	2527	c.2302G>C	c.(2302-2304)Gat>Cat	p.D768H		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	768						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTGTCTTCATCTTCCACATCC	0.378													19	33					0	0	0	0	G	35189848	C	G	35189848	3	3	257	1	0	0	0	0	1	0	0	0	837	913	32	2	2215	2	AQR	15	35189848	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	3831460	35189848	67341544	169	46117											
INO80	54617	broad.mit.edu	37	chr15	41350928	41350928	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacatcctgcaccaccagctGatagctggtaataaccacat	13	9	6	13	0	0	1	0	1	0	0	1	1	1	1	4	1	5	4	4	1	4	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:41350928G>A	ENST00000361937.3	-	16	2318	c.1894C>T	c.(1894-1896)Cag>Tag	p.Q632*	INO80_ENST00000401393.3_Nonsense_Mutation_p.Q632*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	632	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACCACCAGCTGATAGCTGGTA	0.453													21	71					0	0	0	0	A	41350928	G	A	41350928	4	1	257	1	0	0	0	0	0	1	0	0	7799	1299	45	2	2860	2	INO80	15	41350928	Nonsense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	6161080	41350928	61180464	170	46118											
PLA2G4D	283748	broad.mit.edu	37	chr15	42375422	42375422	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgcccgctcagctctgtctCtagggctgccatgtagtgga	5	10	13	13	2	3	0	1	0	2	0	4	1	3	1	2	2	2	4	2	2	2	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:42375422C>G	ENST00000290472.3	-	8	740	c.646G>C	c.(646-648)Gag>Cag	p.E216Q		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	216					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGCTCTGTCTCTAGGGCTGCC	0.632													10	37					0	0	0	0	G	42375422	C	G	42375422	3	3	257	1	0	0	0	0	1	0	0	0	12076	922	32	2	1862	2	PLA2G4D	15	42375422	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	1024494	42375422	60155970	171	46119											
UNC13C	440279	broad.mit.edu	37	chr15	54305735	54305735	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctggggaataagaagtaAgtctttggacagaactgtcc	13	10	11	7	0	1	2	0	0	1	2	3	4	3	4	2	3	1	1	2	3	5	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:54305735A>T	ENST00000545554.1	+	1	635	c.635A>T	c.(634-636)aAg>aTg	p.K212M	UNC13C_ENST00000537900.1_Missense_Mutation_p.K212M|UNC13C_ENST00000260323.11_Missense_Mutation_p.K212M			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	212					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATAAGAAGTAAGTCTTTGGAC	0.438													23	96					0	0	0	0	T	54305735	A	T	54305735	3	4	257	1	0	0	0	0	1	0	0	0	17082	72	3	5	637	5	UNC13C	15	54305735	Missense_Mutation	SNP	A	TCGA-CV-6942-01A-21D-2012-08	11930313	54305735	48225657	172	46120											
RAB8B	51762	broad.mit.edu	37	chr15	63481934	63481934	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgccttcaacaccaccttCatctccaccatcggtgaggg	9	8	8	16	2	3	1	2	1	1	0	5	2	3	1	5	2	1	0	5	2	1	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:63481934C>T	ENST00000321437.4	+	1	267	c.111C>T	c.(109-111)ttC>ttT	p.F37F	RAB8B_ENST00000448330.2_Silent_p.F37F	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	37					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						ACACCACCTTCATCTCCACCA	0.647													9	35					0	0	0	0	T	63481934	C	T	63481934	2	4	257	1	0	0	0	0	0	0	0	1	13039	825	29	2		2	RAB8B	15	63481934	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	9176199	63481934	39049458	173	46121											
SLC24A1	9187	broad.mit.edu	37	chr15	65916745	65916745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactgagcatgacagtggaGaatatccccagtatgcctaa	14	8	9	10	0	0	3	0	2	0	1	1	4	1	3	3	1	2	2	3	1	4	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:65916745G>A	ENST00000261892.6	+	2	614	c.327G>A	c.(325-327)gaG>gaA	p.E109E	SLC24A1_ENST00000537259.1_Silent_p.E109E|SLC24A1_ENST00000339868.6_Silent_p.E109E|SLC24A1_ENST00000546330.1_Silent_p.E109E|SLC24A1_ENST00000544319.2_Silent_p.E109E|SLC24A1_ENST00000399033.4_Silent_p.E109E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	109					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGACAGTGGAGAATATCCCCA	0.493													4	21					0	0	0	0	A	65916745	G	A	65916745	2	1	257	1	0	0	0	0	0	0	0	1	14553	933	33	2		2	SLC24A1	15	65916745	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	2434811	65916745	36614647	174	46122											
SLC24A1	9187	broad.mit.edu	37	chr15	65918077	65918077	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccgagagatcctcaacctCacctggtggcccttattccg	7	10	8	16	2	2	1	2	0	0	1	5	3	5	1	6	2	1	0	6	2	2	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:65918077C>T	ENST00000261892.6	+	2	1946	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L	SLC24A1_ENST00000537259.1_Silent_p.L553L|SLC24A1_ENST00000339868.6_Silent_p.L553L|SLC24A1_ENST00000546330.1_Silent_p.L553L|SLC24A1_ENST00000544319.2_Silent_p.L553L|SLC24A1_ENST00000399033.4_Silent_p.L553L	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	553					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTCAACCTCACCTGGTGGC	0.517													25	104					0	0	0	0	T	65918077	C	T	65918077	2	4	257	1	0	0	0	0	0	0	0	1	14553	813	29	2		2	SLC24A1	15	65918077	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	1332	65918077	36613315	175	46123											
ZNF710	374655	broad.mit.edu	37	chr15	90616485	90616485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcgcccgtgaagccattCaaatgcaaggtacccggtca	11	7	9	14	3	2	1	2	1	0	0	3	1	2	1	3	2	3	2	3	2	4	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:90616485C>A	ENST00000268154.4	+	3	1892	c.1641C>A	c.(1639-1641)ttC>ttA	p.F547L		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGAAGCCATTCAAATGCAAGG	0.602													14	58					1.15088e-07	1.73822e-07	1	0	A	90616485	C	A	90616485	3	1	257	1	0	0	0	0	1	0	0	0	18210	825	29	2	1647	2	ZNF710	15	90616485	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	24698408	90616485	11914907	176	46124											
PRC1	9055	broad.mit.edu	37	chr15	91522476	91522476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatagtagttttttaacCgcacaatctcagcatcgtgg	10	14	7	10	2	2	0	2	0	1	0	4	0	2	0	1	1	2	4	1	1	4	6			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:91522476C>T	ENST00000361188.5	-	8	2230	c.1019G>A	c.(1018-1020)cGg>cAg	p.R340Q	PRC1_ENST00000361919.3_Missense_Mutation_p.R340Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.R340Q|PRC1_ENST00000442656.2_Missense_Mutation_p.R299Q			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	340	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTTTTTTAACCGCACAATCTC	0.413													8	66					0	0	0	0	T	91522476	C	T	91522476	3	4	257	1	0	0	0	0	1	0	0	0	12526	652	23	1	875	1	PRC1	15	91522476	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	905991	91522476	11008916	177	46125											
IFT140	9742	broad.mit.edu	37	chr16	1614075	1614075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcgtctcctgcacggcttCgcatacaaacagccggggct	7	7	12	15	5	1	0	0	0	1	0	3	0	1	0	2	4	4	4	2	4	2	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:1614075C>T	ENST00000426508.2	-	17	2353	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	664										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGCACGGCTTCGCATACAAAC	0.577													14	58					0	0	0	0	T	1614075	C	T	1614075	3	4	257	1	0	0	0	0	1	0	0	0	7609	893	31	1	2458	1	IFT140	16	1614075	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08		1614075	88740678	178	46126											
PLK1	5347	broad.mit.edu	37	chr16	23698820	23698820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgcctgagcgtccccGggaaaaagaagaaccagtgg	11	4	12	14	2	0	3	0	1	0	2	1	4	1	4	6	2	3	0	6	2	4	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:23698820G>A	ENST00000300093.4	+	6	1178	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	356					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAGCGTCCCCGGGAAAAAGAA	0.592													10	136					0	0	0	0	A	23698820	G	A	23698820	3	1	257	1	0	0	0	0	1	0	0	0	12166	1116	39	1	1089	1	PLK1	16	23698820	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	22084745	23698820	66655933	179	46127											
RABEP2	79874	broad.mit.edu	37	chr16	28925721	28925721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagggaggagctgctgcCgaccccaccgccaagggaga	9	2	17	13	2	0	1	0	0	0	1	0	5	0	3	5	4	3	3	5	4	1	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:28925721C>T	ENST00000358201.4	-	5	1318	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	RABEP2_ENST00000544477.1_Missense_Mutation_p.G173S|RABEP2_ENST00000357573.6_Missense_Mutation_p.G244S	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	244					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GAGCTGCTGCCGACCCCACCG	0.672													10	35					0	0	0	0	T	28925721	C	T	28925721	3	4	257	1	0	0	0	0	1	0	0	0	13044	652	23	1	1015	1	RABEP2	16	28925721	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	5226901	28925721	61429032	180	46128											
FHOD1	29109	broad.mit.edu	37	chr16	67272351	67272351	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actggagctatacagcttttCtgcaaaaggtagggtataaa	14	11	10	6	0	1	0	0	0	1	0	1	1	1	1	0	3	4	5	0	3	8	7			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:67272351C>T	ENST00000258201.4	-	4	621		c.e4-1		FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1						actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TACAGCTTTTCTGCAAAAGGT	0.502													4	21					0	0	0	0	T	67272351	C	T	67272351	5	4	257	1	0	0	0	0	0	0	1	0	5927	927	32	2	3197	2	FHOD1	16	67272351	Splice_Site	SNP	C	TCGA-CV-6942-01A-21D-2012-08	38346630	67272351	23082402	181	46129											
C16orf46	123775	broad.mit.edu	37	chr16	81095518	81095518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagcagatgtcgctaattgCcctggaagcagtgctggggc	10	8	14	9	1	0	1	0	0	0	1	1	2	0	2	1	3	4	4	1	3	3	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:81095518C>T	ENST00000378611.4	-	3	551	c.436G>A	c.(436-438)Gca>Aca	p.A146T	C16orf46_ENST00000299578.5_Missense_Mutation_p.A146T|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	146										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCGCTAATTGCCCTGGAAGCA	0.572													5	188					0	0	0	0	T	81095518	C	T	81095518	3	4	257	1	0	0	0	0	1	0	0	0	1828	739	26	4	783	4	C16orf46	16	81095518	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	13823167	81095518	9259235	182	46130											
CTNS	1497	broad.mit.edu	37	chr17	3550808	3550808	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcgaccaacgtcagcctCaccctgcggtaagttcctgg	8	8	10	15	3	2	0	2	0	0	0	4	1	3	0	4	2	4	3	4	2	2	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:3550808C>T	ENST00000046640.3	+	4	725	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CTNS_ENST00000399306.2_Silent_p.L44L|CTNS_ENST00000414524.2_Intron|CTNS_ENST00000441220.2_Intron|CTNS_ENST00000488623.1_3'UTR|CTNS_ENST00000381870.3_Silent_p.L44L	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	44					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	ACGTCAGCCTCACCCTGCGGT	0.602													7	27					0	0	0	0	T	3550808	C	T	3550808	2	4	257	1	0	0	0	0	0	0	0	1	4053	813	29	2		2	CTNS	17	3550808	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08		3550808	77644402	183	46131											
SPNS2	124976	broad.mit.edu	37	chr17	4436304	4436304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctcctccctggccacgtCggctgtctccttcgccacgg	2	11	9	19	4	2	0	0	0	2	0	7	0	3	0	5	3	0	1	5	3	0	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:4436304C>T	ENST00000329078.3	+	7	1178	c.968C>T	c.(967-969)tCg>tTg	p.S323L		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	323					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CTGGCCACGTCGGCTGTCTCC	0.662													15	51					0	0	0	0	T	4436304	C	T	4436304	3	4	257	1	0	0	0	0	1	0	0	0	15165	893	31	1	994	1	SPNS2	17	4436304	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	885496	4436304	76758906	184	46132											
ZFP3	124961	broad.mit.edu	37	chr17	4996049	4996049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccagagaattcatactgGagagaaaccccatcaatgta	16	7	7	11	0	2	2	2	0	0	2	2	5	2	3	4	1	2	1	4	1	5	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:4996049G>T	ENST00000318833.3	+	2	1586	c.1250G>T	c.(1249-1251)gGa>gTa	p.G417V		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						ATTCATACTGGAGAGAAACCC	0.428													15	63					2.61681e-11	4.19841e-11	1	0	T	4996049	G	T	4996049	3	4	257	1	0	0	0	0	1	0	0	0	17738	1174	41	2	1252	2	ZFP3	17	4996049	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	559745	4996049	76199161	185	46133											
ALOX12	239	broad.mit.edu	37	chr17	6905118	6905118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggtgcctcccaggactgcaCcccatcttcaaggtacttat	8	10	8	15	1	2	0	1	0	1	0	3	1	3	1	4	3	3	2	4	3	3	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:6905118C>A	ENST00000251535.6	+	8	1202	c.1149C>A	c.(1147-1149)caC>caA	p.H383Q	AC027763.2_ENST00000399540.2_3'UTR|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	383	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CAGGACTGCACCCCATCTTCA	0.488													16	68					6.31663e-08	9.70766e-08	1	0	A	6905118	C	A	6905118	3	1	257	1	0	0	0	0	1	0	0	0	536	506	18	4	1179	4	ALOX12	17	6905118	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	1909069	6905118	74290092	186	46134											
TP53	7157	broad.mit.edu	37	chr17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcccaagacttagtacctGaagggtgaaatattctccat	12	11	9	9	0	1	3	0	2	1	1	3	3	2	3	3	2	1	1	3	2	6	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTAGTACCTGAAGGGTGAAA	0.448		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	51					0	0	0	0	A	7576855	G	A	7576855	4	1	257	1	0	0	0	0	0	1	0	0	16476	1299	45	2	291	2	TP53	17	7576855	Nonsense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	671737	7576855	73618355	187	46135											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	25					0	0	0	0	A	7578212	G	A	7578212	4	1	257	1	0	0	0	0	0	1	0	0	16476	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	1357	7578212	73616998	188	46136											
PIK3R5	23533	broad.mit.edu	37	chr17	8790443	8790443	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttcagggggcaggtgcatGaggcccagtacattgcgctc	8	8	14	11	1	1	1	1	1	0	0	2	1	1	1	1	4	3	4	1	4	1	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:8790443G>C	ENST00000447110.1	-	12	1999	c.1875C>G	c.(1873-1875)ctC>ctG	p.L625L	PIK3R5_ENST00000581552.1_Silent_p.L625L|PIK3R5_ENST00000584803.1_Silent_p.L625L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	625					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCAGGTGCATGAGGCCCAGTA	0.622													8	37					0	0	0	0	C	8790443	G	C	8790443	2	2	257	1	0	0	0	0	0	0	0	1	11994	1277	45	2		2	PIK3R5	17	8790443	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	1212231	8790443	72404767	189	46137											
ZNF624	57547	broad.mit.edu	37	chr17	16527194	16527194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgaaggcctttccacattCattacatttatagggttttt	11	17	6	7	0	1	1	1	1	0	0	2	1	2	1	2	2	1	1	2	2	5	8			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:16527194C>T	ENST00000311331.7	-	6	1097	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTTCCACATTCATTACATTTA	0.368													24	79					0	0	0	0	T	16527194	C	T	16527194	3	4	257	1	0	0	0	0	1	0	0	0	18143	835	29	2	1595	2	ZNF624	17	16527194	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	7736751	16527194	64668016	190	46138											
MPRIP	23164	broad.mit.edu	37	chr17	17061836	17061836	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagagctgggggagccGgaccctgagcagaagaggag	11	2	20	8	1	0	4	0	1	0	3	0	8	0	7	2	5	3	3	2	5	1	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:17061836G>A	ENST00000395811.5	+	14	1655	c.1566G>A	c.(1564-1566)ccG>ccA	p.P522P	MPRIP_ENST00000444976.1_Silent_p.P484P|MPRIP_ENST00000395804.3_Silent_p.P522P|MPRIP_ENST00000341712.4_Silent_p.P522P	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	522						cytoplasm|cytoskeleton	actin binding	p.P522P(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TGGGGGAGCCGGACCCTGAGC	0.632													9	42					0	0	0	0	A	17061836	G	A	17061836	2	1	257	1	0	0	0	0	0	0	0	1	9813	1103	39	1		1	MPRIP	17	17061836	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	534642	17061836	64133374	191	46139											
ULK2	9706	broad.mit.edu	37	chr17	19748690	19748690	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgagcaaaaccaaaatccGctatttcacaaaacagaaag	21	5	5	10	2	1	1	1	0	0	1	2	2	2	1	2	0	4	2	2	0	9	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:19748690G>A	ENST00000395544.4	-	7	969	c.469_splice	c.e7-1	p.A157_splice	ULK2_ENST00000361658.2_Splice_Site_p.A157_splice	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	157	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ACCAAAATCCGCTATTTCACA	0.413													8	22					0	0	0	0	A	19748690	G	A	19748690	5	1	257	1	0	0	0	0	0	0	1	0	17072	1101	38	1	2724	1	ULK2	17	19748690	Splice_Site	SNP	G	TCGA-CV-6942-01A-21D-2012-08	2686854	19748690	61446520	192	46140											
GAS2L2	246176	broad.mit.edu	37	chr17	34072759	34072759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggcagaggtgtgtacCgcccctcctgctcctgtagg	6	8	13	14	1	0	1	0	0	0	1	2	1	2	1	6	3	2	4	6	3	3	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:34072759C>T	ENST00000254466.6	-	6	1784	c.1757G>A	c.(1756-1758)cGg>cAg	p.R586Q	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R570Q	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	586					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTGTGTACCGCCCCTCCTG	0.582													20	90					0	0	0	0	T	34072759	C	T	34072759	3	4	257	1	0	0	0	0	1	0	0	0	6296	652	23	1	889	1	GAS2L2	17	34072759	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	14324069	34072759	47122451	193	46141											
PTRF	284119	broad.mit.edu	37	chr17	40557194	40557194	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcttgaagtcgtccacGcgccgcaggccgctgcgctt	4	9	12	16	6	1	1	0	1	1	0	3	1	2	1	4	1	1	3	4	1	1	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:40557194G>A	ENST00000357037.5	-	2	1103	c.684C>T	c.(682-684)cgC>cgT	p.R228R		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	228					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		AGTCGTCCACGCGCCGCAGGC	0.612													27	111					0	0	0	0	A	40557194	G	A	40557194	2	1	257	1	0	0	0	0	0	0	0	1	12897	1074	38	1		1	PTRF	17	40557194	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	6484435	40557194	40638016	194	46142											
WNK4	65266	broad.mit.edu	37	chr17	40940726	40940726	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagaatgacagagtggttGagtgccagctacagacccat	13	7	11	10	0	0	5	0	2	0	3	0	5	0	5	3	1	3	2	3	1	2	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:40940726G>C	ENST00000246914.5	+	11	2089	c.2068G>C	c.(2068-2070)Gag>Cag	p.E690Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	690					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGAGTGGTTGAGTGCCAGCT	0.542													14	43					0	0	0	0	C	40940726	G	C	40940726	3	2	257	1	0	0	0	0	1	0	0	0	17476	1291	45	2	2110	2	WNK4	17	40940726	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	383532	40940726	40254484	195	46143											
LRRC37A	9884	broad.mit.edu	37	chr17	44408455	44408455	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctaccacaggtgagagacaGatcgaaagacttaacccacg	15	5	9	12	2	0	4	0	1	0	3	1	6	0	4	3	1	2	0	3	1	3	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:44408455G>C	ENST00000320254.5	+	9	3815	c.3812G>C	c.(3811-3813)aGa>aCa	p.R1271T	LRRC37A_ENST00000496930.1_Missense_Mutation_p.R309T|LRRC37A_ENST00000393465.3_Missense_Mutation_p.R1271T|ARL17B_ENST00000575960.1_Intron|ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000434041.2_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1271						integral to membrane				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GTGAGAGACAGATCGAAAGAC	0.468													16	54					0	0	0	0	C	44408455	G	C	44408455	3	2	257	1	0	0	0	0	1	0	0	0	9055	942	33	2	3846	2	LRRC37A	17	44408455	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	3467729	44408455	36786755	196	46144											
SMARCD2	6603	broad.mit.edu	37	chr17	61910724	61910724	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggggtcggtgctaaaactGagcatgaaatctctctgggt	9	11	14	7	1	2	2	0	2	2	0	4	2	2	2	0	4	3	2	0	4	3	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:61910724G>C	ENST00000448276.2	-	11	1639	c.1374C>G	c.(1372-1374)ctC>ctG	p.L458L	SMARCD2_ENST00000323347.10_Silent_p.L410L|SMARCD2_ENST00000225742.9_Silent_p.L383L	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	458					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TGCTAAAACTGAGCATGAAAT	0.537													23	64					0	0	0	0	C	61910724	G	C	61910724	2	2	257	1	0	0	0	0	0	0	0	1	14866	1277	45	2		2	SMARCD2	17	61910724	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	17502269	61910724	19284486	197	46145											
LLGL2	3993	broad.mit.edu	37	chr17	73564865	73564865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttctaggagtggccaattGatggtggcaccagcctgacc	8	11	12	10	0	1	2	0	2	1	0	1	3	1	3	4	4	1	1	4	4	2	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:73564865G>C	ENST00000392550.3	+	12	1384	c.1267G>C	c.(1267-1269)Gat>Cat	p.D423H	LLGL2_ENST00000577200.1_Missense_Mutation_p.D423H|LLGL2_ENST00000167462.5_Missense_Mutation_p.D423H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	423					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTGGCCAATTGATGGTGGCAC	0.597													6	40					0	0	0	0	C	73564865	G	C	73564865	3	2	257	1	0	0	0	0	1	0	0	0	8889	1290	45	2	1344	2	LLGL2	17	73564865	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	11654141	73564865	7630345	198	46146											
ANKRD12	23253	broad.mit.edu	37	chr18	9255172	9255172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtccaacatttgaaaattCagattgcacactgaaaaaaa	19	10	5	7	0	1	3	1	2	0	1	2	3	2	3	1	0	2	1	1	0	7	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:9255172C>T	ENST00000383440.2	+	8	2095	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L	ANKRD12_ENST00000400020.3_Missense_Mutation_p.S613L|ANKRD12_ENST00000262126.3_Missense_Mutation_p.S636L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	636						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTTGAAAATTcagattgcaca	0.274													14	51					0	0	0	0	T	9255172	C	T	9255172	3	4	257	1	0	0	0	0	1	0	0	0	640	838	29	2	1937	2	ANKRD12	18	9255172	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08		9255172	68822076	199	46147											
GNAL	2774	broad.mit.edu	37	chr18	11752499	11752499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgatgaaaaagaacgacgcGaggccaacaaaaagatcgag	19	3	11	8	5	0	3	0	1	0	2	2	7	0	3	1	1	2	0	1	1	6	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:11752499G>A	ENST00000423027.3	+	1	388	c.67G>A	c.(67-69)Gag>Aag	p.E23K	GNAL_ENST00000269162.5_Missense_Mutation_p.E23K|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000535121.1_Missense_Mutation_p.E23K			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	23					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AGAACGACGCGAGGCCAACAA	0.612													18	71					0	0	0	0	A	11752499	G	A	11752499	3	1	257	1	0	0	0	0	1	0	0	0	6558	1059	37	1	449	1	GNAL	18	11752499	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	2497327	11752499	66324749	200	46148											
SYT4	6860	broad.mit.edu	37	chr18	40853923	40853923	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtattctaaggagaagaaGagagttcccagcttctcttg	11	13	10	7	0	2	3	0	0	2	3	4	5	3	3	1	1	1	3	1	1	4	7			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:40853923G>C	ENST00000255224.3	-	2	839	c.471C>G	c.(469-471)ctC>ctG	p.L157L	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L139L	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	157	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGAGAAGAAGAGAGTTCCCA	0.453													5	33					0	0	0	0	C	40853923	G	C	40853923	2	2	257	1	0	0	0	0	0	0	0	1	15567	929	33	2		2	SYT4	18	40853923	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	29101424	40853923	37223325	201	46149											
ZBTB7C	201501	broad.mit.edu	37	chr18	45566526	45566526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcccagaggcccccccGgcaggtcagggaacatgtcc	7	5	14	15	1	1	1	1	0	0	1	3	2	3	2	5	5	1	1	5	5	1	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:45566526G>A	ENST00000588982.1	-	3	1454	c.953C>T	c.(952-954)cCg>cTg	p.P318L	ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P318L|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P318L|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P318L|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P318L			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	318	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding	p.P318L(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGCCCCCCCGGCAGGTCAGG	0.617													4	61					0	0	0	0	A	45566526	G	A	45566526	3	1	257	1	0	0	0	0	1	0	0	0	17650	1116	39	1	914	1	ZBTB7C	18	45566526	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	4712603	45566526	32510722	202	46150											
GRP	2922	broad.mit.edu	37	chr18	56897646	56897646	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttcttaagttggtagactCtctgctccaggttctcaacg	8	15	8	10	1	3	1	1	0	3	1	6	1	4	1	1	2	2	4	1	2	3	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:56897646C>G	ENST00000529320.2	+	3	468	c.374C>G	c.(373-375)tCt>tGt	p.S125C	GRP_ENST00000256857.2_Silent_p.L131L|GRP_ENST00000420468.2_Intron	NM_001012513.1	NP_001012531.1	P07492	GRP_HUMAN	gastrin-releasing peptide	0					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				TTGGTAGACTCTCTGCTCCAG	0.423													13	59					0	0	0	0	G	56897646	C	G	56897646	3	3	257	1	0	0	0	0	1	0	0	0	6855	913	32	2	403	2	GRP	18	56897646	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	11331120	56897646	21179602	203	46151											
DNMT1	1786	broad.mit.edu	37	chr19	10254621	10254621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtacaggtcctcatccacGggctccttccgtgggcgttt	4	11	13	13	3	1	0	1	0	0	0	5	0	5	0	4	4	1	3	4	4	1	3	rs150359172	by1000genomes	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:10254621G>A	ENST00000340748.4	-	28	3124	c.2889C>T	c.(2887-2889)ccC>ccT	p.P963P	DNMT1_ENST00000540357.1_Silent_p.P963P|DNMT1_ENST00000359526.4_Silent_p.P979P			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	963					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCTCATCCACGGGCTCCTTCC	0.562													25	141					0	0	0	0	A	10254621	G	A	10254621	2	1	257	1	0	0	0	0	0	0	0	1	4711	1103	39	1		1	DNMT1	19	10254621	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08		10254621	48874362	204	46152											
LDLR	3949	broad.mit.edu	37	chr19	11213447	11213447	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggactgcgacaacggctcaGacgagcaaggctgtcgtaag	11	6	14	10	4	1	1	1	0	0	1	2	4	1	2	0	3	3	4	0	3	3	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:11213447G>C	ENST00000558518.1	+	3	485	c.298G>C	c.(298-300)Gac>Cac	p.D100H	LDLR_ENST00000558013.1_Missense_Mutation_p.D100H|LDLR_ENST00000545707.1_Missense_Mutation_p.D100H|LDLR_ENST00000557933.1_Missense_Mutation_p.D100H|LDLR_ENST00000535915.1_Intron|LDLR_ENST00000455727.2_Missense_Mutation_p.D100H	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	100	LDL-receptor class A 2.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CAACGGCTCAGACGAGCAAGG	0.592													14	85					0	0	0	0	C	11213447	G	C	11213447	3	2	257	1	0	0	0	0	1	0	0	0	8757	942	33	2	308	2	LDLR	19	11213447	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	958826	11213447	47915536	205	46153											
MAN2B1	4125	broad.mit.edu	37	chr19	12776262	12776262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccacgtaaatgaagcgacGggtgggatctgccagcaagg	11	6	14	10	3	1	1	0	1	1	0	2	3	2	2	2	3	3	2	2	3	4	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:12776262G>A	ENST00000456935.2	-	3	380	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	MAN2B1_ENST00000221363.4_Missense_Mutation_p.R114C|CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.R111C	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	114					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGAAGCGACGGGTGGGATCT	0.557													25	93					0	0	0	0	A	12776262	G	A	12776262	3	1	257	1	0	0	0	0	1	0	0	0	9285	1116	39	1	2783	1	MAN2B1	19	12776262	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	1562815	12776262	46352721	206	46154											
SLC1A6	6511	broad.mit.edu	37	chr19	15061151	15061151	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagacaagtgctcgatgacGgccgctccaattgagtcccc	9	8	11	13	3	0	3	0	3	0	1	3	5	2	3	4	1	1	2	4	1	2	1	rs143528996		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:15061151G>T	ENST00000430939.2	-	9	1488	c.1359C>A	c.(1357-1359)gcC>gcA	p.A453A	SLC1A6_ENST00000221742.3_Silent_p.A517A|SLC1A6_ENST00000600144.1_Silent_p.A439A			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	517					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCTCGATGACGGCCGCTCCAA	0.567													16	49					3.45872e-05	5.08362e-05	1	0	T	15061151	G	T	15061151	2	4	257	1	0	0	0	0	0	0	0	1	14524	1103	39	3		3	SLC1A6	19	15061151	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	2284889	15061151	44067832	207	46155											
ZNF430	80264	broad.mit.edu	37	chr19	21240040	21240040	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaccttactacacataaaaGaattcatactggagagaaac	19	8	5	9	0	1	2	1	0	0	2	1	4	1	3	1	1	4	0	1	1	7	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:21240040G>C	ENST00000261560.5	+	5	1107	c.926G>C	c.(925-927)aGa>aCa	p.R309T		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACACATAAAAGAATTCATACT	0.398													21	75					0	0	0	0	C	21240040	G	C	21240040	3	2	257	1	0	0	0	0	1	0	0	0	17999	942	33	2	944	2	ZNF430	19	21240040	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	6178889	21240040	37888943	208	46156											
ZNF714	148206	broad.mit.edu	37	chr19	21300910	21300910	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catactggagagaaatcttaCaaatgtgaagaatgtggtaa	17	10	10	4	0	1	3	0	1	1	2	1	5	1	4	0	2	2	1	0	2	7	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:21300910C>G	ENST00000596143.1	+	5	1765	c.1440C>G	c.(1438-1440)taC>taG	p.Y480*	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AGAAATCTTACAAATGTGAAG	0.393													10	35					0	0	0	0	G	21300910	C	G	21300910	4	3	257	1	0	0	0	0	0	1	0	0	18213	489	17	4	1450	4	ZNF714	19	21300910	Nonsense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	60870	21300910	37828073	209	46157											
ZNF676	163223	broad.mit.edu	37	chr19	22363886	22363886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	attaccttatgtttagtaagGattgagaacttactaaaggc	14	14	8	5	0	0	1	0	1	0	1	0	3	0	2	1	2	3	2	1	2	8	8			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:22363886G>C	ENST00000397121.2	-	3	950	c.633C>G	c.(631-633)atC>atG	p.I211M		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	211				KFSILTKHKVIHT -> WSSSLTEHKRIHA (in Ref. 2; BAC05174).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTTAGTAAGGATTGAGAACT	0.353													14	78					0	0	0	0	C	22363886	G	C	22363886	3	2	257	1	0	0	0	0	1	0	0	0	18178	1164	41	2	1137	2	ZNF676	19	22363886	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	1062976	22363886	36765097	210	46158											
ZNF536	9745	broad.mit.edu	37	chr19	30935952	30935952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggatgcctcaatctcGtgccgccgctgaaatccagc	7	9	10	15	3	2	1	1	1	1	0	5	2	4	2	5	1	3	1	5	1	2	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:30935952G>A	ENST00000355537.3	+	2	1630	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTCAATCTCGTGCCGCCGCT	0.657													18	66					0	0	0	0	A	30935952	G	A	30935952	3	1	257	1	0	0	0	0	1	0	0	0	18069	1145	40	1	1485	1	ZNF536	19	30935952	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	8572066	30935952	28193031	211	46159											
PSG7	5676	broad.mit.edu	37	chr19	43428917	43428917	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagtgggtcttgctctttGaggttccatgggagaagatg	8	12	15	6	0	2	4	0	1	2	3	3	5	3	4	1	3	1	2	1	3	1	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:43428917G>C	ENST00000406070.2	-	0	1399					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				cttgctctttgaggttccatg	0.418													18	63					0	0	0	0	C	43428917	G	C	43428917	1	2	257	0	1	0	0	0	0	0	0	0	12739	1305	45	2		2	PSG7	19	43428917	RNA	SNP	G	TCGA-CV-6942-01A-21D-2012-08	12492965	43428917	15700066	212	46160											
FBXO46	23403	broad.mit.edu	37	chr19	46215504	46215504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggctccgggggcccgTccggcccgcggttctggaga	2	6	20	13	5	1	1	0	0	1	1	3	2	3	1	4	8	0	2	4	8	0	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:46215504T>C	ENST00000317683.3	-	2	1383	c.1250A>G	c.(1249-1251)gAc>gGc	p.D417G		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	417							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CGGGGGCCCGTCCGGCCCGCG	0.726													10	22					0	0	0	0	C	46215504	T	C	46215504	3	2	257	1	0	0	0	0	1	0	0	0	5800	1667	58	5	565	5	FBXO46	19	46215504	Missense_Mutation	SNP	T	TCGA-CV-6942-01A-21D-2012-08	2786587	46215504	12913479	213	46161											
MEIS3	56917	broad.mit.edu	37	chr19	47910822	47910822	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaccggcgcttctgagcgtCtctgcgctccccaggatgga	6	8	13	14	4	2	1	0	1	2	0	4	4	3	3	3	3	3	2	3	3	1	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:47910822C>G	ENST00000331559.5	-	9	1250	c.807_splice	c.e9-1	p.R270_splice	MEIS3_ENST00000561096.1_Intron|MEIS3_ENST00000559524.1_Splice_Site_p.R287_splice|MEIS3_ENST00000558555.1_Intron|MEIS3_ENST00000560253.1_Intron|MEIS3_ENST00000441740.2_Intron|MEIS3_ENST00000561293.1_Splice_Site_p.R287_splice	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	286						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TTCTGAGCGTCTCTGCGCTCC	0.662													4	7					0	0	0	0	G	47910822	C	G	47910822	5	3	257	1	0	0	0	0	0	0	1	0	9538	927	32	2	421	2	MEIS3	19	47910822	Splice_Site	SNP	C	TCGA-CV-6942-01A-21D-2012-08	1695318	47910822	11218161	214	46162											
IL4I1	259307	broad.mit.edu	37	chr19	50393181	50393181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagccgtgcgggtaggCggtgtgctcgccggcaaagt	6	6	16	13	5	0	0	0	0	0	0	1	0	0	0	3	4	3	3	3	4	2	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:50393181C>T	ENST00000595948.1	-	10	2136	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T	IL4I1_ENST00000391826.2_Missense_Mutation_p.A484T|IL4I1_ENST00000341114.3_Missense_Mutation_p.A506T	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	484						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		TGCGGGTAGGCGGTGTGCTCG	0.667											OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	18					0	0	0	0	T	50393181	C	T	50393181	3	4	257	1	0	0	0	0	1	0	0	0	7750	768	27	1	257	1	IL4I1	19	50393181	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	2482359	50393181	8735802	215	46163											
NAPSA	9476	broad.mit.edu	37	chr19	50862816	50862816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcagggcccggatctcctCagtgggtcctgtgatgaggg	6	9	16	10	1	2	2	1	2	1	0	4	3	3	3	3	4	1	1	3	4	0	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:50862816C>T	ENST00000253719.2	-	7	1088	c.880G>A	c.(880-882)Gag>Aag	p.E294K	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	294					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CGGATCTCCTCAGTGGGTCCT	0.647													14	51					0	0	0	0	T	50862816	C	T	50862816	3	4	257	1	0	0	0	0	1	0	0	0	10236	835	29	2	394	2	NAPSA	19	50862816	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	469635	50862816	8266167	216	46164											
NLRP12	91662	broad.mit.edu	37	chr19	54318203	54318203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacttccagaaggcatgttGactggttcccaagtgaggac	11	9	12	9	0	0	4	0	2	0	2	2	5	2	5	2	3	0	3	2	3	2	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:54318203G>A	ENST00000324134.6	-	2	497	c.329C>T	c.(328-330)tCa>tTa	p.S110L	NLRP12_ENST00000351894.4_Missense_Mutation_p.S110L|NLRP12_ENST00000391775.3_Missense_Mutation_p.S110L|NLRP12_ENST00000535162.1_Missense_Mutation_p.S110L|NLRP12_ENST00000391772.1_Missense_Mutation_p.S110L|NLRP12_ENST00000391773.1_Missense_Mutation_p.S110L|NLRP12_ENST00000354278.3_Missense_Mutation_p.S110L|NLRP12_ENST00000345770.5_Missense_Mutation_p.S110L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	110					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAGGCATGTTGACTGGTTCCC	0.517													26	78					0	0	0	0	A	54318203	G	A	54318203	3	1	257	1	0	0	0	0	1	0	0	0	10544	1294	45	2	2988	2	NLRP12	19	54318203	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	3455387	54318203	4810780	217	46165											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701579	56701579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgtggatgcttagctGggaaaaatacttaaatgatt	12	13	9	7	0	0	1	0	1	0	0	1	3	1	3	2	2	3	2	2	2	6	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:56701579G>T	ENST00000586855.2	-	5	1418	c.1105C>A	c.(1105-1107)Cag>Aag	p.Q369K	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.Q369K			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	369					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATGCTTAGCTGGGAAAAATAC	0.547													19	54					6.49762e-13	1.05406e-12	1	0	T	56701579	G	T	56701579	3	4	257	1	0	0	0	0	1	0	0	0	18330	1357	47	4	386	4	ZSCAN5B	19	56701579	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	2383376	56701579	2427404	218	46166											
AURKC	6795	broad.mit.edu	37	chr19	57746747	57746747	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggttcaggcccactccCgaagggtgctgcctccctgt	4	9	12	16	1	1	0	1	0	0	0	3	1	3	0	5	3	2	2	5	3	1	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:57746747C>T	ENST00000302804.7	+	7	1078	c.892C>T	c.(892-894)Cga>Tga	p.R298*	AURKC_ENST00000448930.1_Nonsense_Mutation_p.R264*|AURKC_ENST00000415300.2_Nonsense_Mutation_p.R279*|AURKC_ENST00000599062.1_Nonsense_Mutation_p.R295*|AURKC_ENST00000598785.1_Nonsense_Mutation_p.R264*	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	298					cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GGCCCACTCCCGAAGGGTGCT	0.622													21	75					0	0	0	0	T	57746747	C	T	57746747	4	4	257	1	0	0	0	0	0	1	0	0	1228	644	23	1	923	1	AURKC	19	57746747	Nonsense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	1045168	57746747	1382236	219	46167											
PLCB1	23236	broad.mit.edu	37	chr20	8717816	8717816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgaatcctgtctgggaaGaagaacctattgtgttcaaa	12	12	10	7	0	2	3	1	1	1	2	3	4	3	4	2	1	1	1	2	1	6	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:8717816G>A	ENST00000378641.3	+	20	2660	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.E729K|PLCB1_ENST00000378637.2_Missense_Mutation_p.E729K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	729	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGTCTGGGAAGAAGAACCTAT	0.378													6	42					0	0	0	0	A	8717816	G	A	8717816	3	1	257	1	0	0	0	0	1	0	0	0	12099	943	33	2	2263	2	PLCB1	20	8717816	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08		8717816	54307704	220	46168											
SLC12A5	57468	broad.mit.edu	37	chr20	44675031	44675031	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtgcagtgcagacgctGctgaggacacccaactggag	9	6	14	12	1	0	2	0	1	0	1	0	4	0	4	2	2	4	4	2	2	1	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:44675031G>T	ENST00000454036.1	+	14	1888	c.1812G>T	c.(1810-1812)ctG>ctT	p.L604L	SLC12A5_ENST00000243964.3_Silent_p.L581L|SLC12A5_ENST00000539566.1_3'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	604					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCAGACGCTGCTGAGGACAC	0.567													14	65					6.72482e-11	1.07108e-10	1	0	T	44675031	G	T	44675031	2	4	257	1	0	0	0	0	0	0	0	1	14474	1306	46	4		4	SLC12A5	20	44675031	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	35957215	44675031	18350489	221	46169											
BMP7	655	broad.mit.edu	37	chr20	55750064	55750064	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtcgctgctgctgttctCtgcattgacaaggaagtgaa	8	12	12	9	1	1	2	0	2	1	0	3	3	1	3	0	2	3	5	0	2	3	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:55750064C>G	ENST00000395863.3	-	5	1464		c.e5-1		BMP7_ENST00000450594.2_Splice_Site|BMP7_ENST00000395864.3_Splice_Site|BMP7_ENST00000460817.1_Splice_Site	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7						BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTGCTGTTCTCTGCATTGACA	0.537													4	6					0	0	0	0	G	55750064	C	G	55750064	5	3	257	1	0	0	0	0	0	0	1	0	1470	927	32	2	349	2	BMP7	20	55750064	Splice_Site	SNP	C	TCGA-CV-6942-01A-21D-2012-08	11075033	55750064	7275456	222	46170											
PHACTR3	116154	broad.mit.edu	37	chr20	58349449	58349449	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgccgctaaggaatctGaggagaacaaggagaacctg	15	5	13	8	1	1	3	0	1	1	2	1	7	1	4	2	3	4	1	2	3	6	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:58349449G>T	ENST00000371015.1	+	7	1545	c.1078G>T	c.(1078-1080)Gag>Tag	p.E360*	PHACTR3_ENST00000395636.2_Nonsense_Mutation_p.E319*|PHACTR3_ENST00000361300.4_Nonsense_Mutation_p.E249*|PHACTR3_ENST00000541461.1_Nonsense_Mutation_p.E319*|PHACTR3_ENST00000395639.4_Nonsense_Mutation_p.E249*|PHACTR3_ENST00000359926.3_Nonsense_Mutation_p.E357*|PHACTR3_ENST00000355648.4_Nonsense_Mutation_p.E319*	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	360						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TAAGGAATCTGAGGAGAACAA	0.517													22	70					8.10497e-08	1.24125e-07	1	0	T	58349449	G	T	58349449	4	4	257	1	0	0	0	0	0	1	0	0	11883	1291	45	2	1104	2	PHACTR3	20	58349449	Nonsense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	2599385	58349449	4676071	223	46171											
KCNQ2	3785	broad.mit.edu	37	chr20	62039880	62039880	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgggccccgccccacgatCtggtccactctaccgggaac	6	6	11	18	3	2	0	0	0	2	0	3	2	3	1	6	3	2	1	6	3	2	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:62039880C>G	ENST00000354587.3	-	16	1973	c.1797G>C	c.(1795-1797)caG>caC	p.Q599H	KCNQ2_ENST00000359125.2_Missense_Mutation_p.Q591H|KCNQ2_ENST00000370226.1_Missense_Mutation_p.Q561H|KCNQ2_ENST00000344462.3_Missense_Mutation_p.Q587H|KCNQ2_ENST00000430658.1_Missense_Mutation_p.Q560H|KCNQ2_ENST00000360480.3_Missense_Mutation_p.Q563H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.Q573H|KCNQ2_ENST00000370224.1_Missense_Mutation_p.Q599H|KCNQ2_ENST00000359689.1_Missense_Mutation_p.Q591H			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	597					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GCCCCACGATCTGGTCCACTC	0.697													3	18					0	0	0	0	G	62039880	C	G	62039880	3	3	257	1	0	0	0	0	1	0	0	0	8136	912	32	2	853	2	KCNQ2	20	62039880	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	3690431	62039880	985640	224	46172											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343													5	103					0	0	0	0	C	11058353	T	C	11058353	1	2	257	0	1	0	0	0	0	0	0	0	1296	1769	61	5		5	BAGE2	21	11058353	RNA	SNP	T	TCGA-CV-6942-01A-21D-2012-08		11058353	37071542	225	46173											
NCAM2	4685	broad.mit.edu	37	chr21	22710789	22710789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgtatgtgatgcggaagggGagcctattccagaaatcact	11	10	12	8	2	1	2	1	1	0	1	3	4	2	4	2	3	2	1	2	3	4	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:22710789G>A	ENST00000400546.1	+	8	1228	c.979G>A	c.(979-981)Gag>Aag	p.E327K	NCAM2_ENST00000535285.1_Missense_Mutation_p.E352K|NCAM2_ENST00000284894.7_Missense_Mutation_p.E185K	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	327	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGCGGAAGGGGAGCCTATTCC	0.388													8	16					0	0	0	0	A	22710789	G	A	22710789	3	1	257	1	0	0	0	0	1	0	0	0	10273	1175	41	2	1009	2	NCAM2	21	22710789	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	11652436	22710789	25419106	226	46174											
SYNJ1	8867	broad.mit.edu	37	chr21	34037326	34037326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcgttagggagatcgattCgatagttgaaatcaccacac	12	11	9	9	3	1	2	1	1	0	1	4	5	1	2	1	1	0	2	1	1	3	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:34037326C>T	ENST00000382499.2	-	18	2317	c.2318G>A	c.(2317-2319)cGa>cAa	p.R773Q	SYNJ1_ENST00000433931.2_Missense_Mutation_p.R773Q|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R729Q|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R734Q|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R734Q	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	734	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GAGATCGATTCGATAGTTGAA	0.348													7	44					0	0	0	0	T	34037326	C	T	34037326	3	4	257	1	0	0	0	0	1	0	0	0	15543	884	31	1	2605	1	SYNJ1	21	34037326	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	11326537	34037326	14092569	227	46175											
MX1	4599	broad.mit.edu	37	chr21	42824567	42824567	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccaaaattgaagacattaGagcagaacaagagagagaag	20	5	11	5	0	0	6	0	1	0	5	1	8	1	6	1	0	2	1	1	0	7	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:42824567G>C	ENST00000398600.2	+	18	2554	c.1529G>C	c.(1528-1530)aGa>aCa	p.R510T	MX1_ENST00000288383.6_Missense_Mutation_p.R487T|MX1_ENST00000455164.2_Missense_Mutation_p.R510T|MX1_ENST00000398598.3_Missense_Mutation_p.R510T	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	510					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GAAGACATTAGAGCAGAACAA	0.428													17	71					0	0	0	0	C	42824567	G	C	42824567	3	2	257	1	0	0	0	0	1	0	0	0	10067	942	33	2	1575	2	MX1	21	42824567	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	8787241	42824567	5305328	228	46176											
RIPK4	54101	broad.mit.edu	37	chr21	43161791	43161791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcttctccaacagcagcCgtgtgctagactcgtccccg	6	10	9	16	4	2	1	0	0	2	1	5	1	3	1	4	0	4	3	4	0	2	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:43161791C>T	ENST00000352483.2	-	9	1770	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	RIPK4_ENST00000332512.3_Missense_Mutation_p.R521Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.R458Q|RIPK4_ENST00000544709.1_Missense_Mutation_p.R458Q			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	521						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.R569Q(1)|p.R521Q(1)		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						CAACAGCAGCCGTGTGCTAGA	0.627													9	44					0	0	0	0	T	43161791	C	T	43161791	3	4	257	1	0	0	0	0	1	0	0	0	13468	652	23	1	796	1	RIPK4	21	43161791	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	337224	43161791	4968104	229	46177											
UMODL1	89766	broad.mit.edu	37	chr21	43531075	43531075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcacgggaacagcagccctCggcctagagaacttcacctt	10	6	11	14	2	1	1	1	0	0	1	2	3	1	2	3	3	4	2	3	3	3	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:43531075C>T	ENST00000400427.1	+	11	1923	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	UMODL1_ENST00000408910.2_Silent_p.L581L|UMODL1_ENST00000408989.2_Silent_p.L581L|UMODL1_ENST00000400424.1_Silent_p.L509L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	576	EGF-like 2; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGCAGCCCTCGGCCTAGAGA	0.657													12	32					0	0	0	0	T	43531075	C	T	43531075	2	4	257	1	0	0	0	0	0	0	0	1	17076	871	31	1		1	UMODL1	21	43531075	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	369284	43531075	4598820	230	46178											
WDR4	10785	broad.mit.edu	37	chr21	44299516	44299516	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaagaccaaggccccctcaCctgcttgctatggaggtggc	8	7	11	15	0	1	1	1	0	0	1	1	2	1	2	5	4	2	2	5	4	3	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:44299516C>A	ENST00000398208.2	-	1	149		c.e1+1		WDR4_ENST00000330317.2_Splice_Site	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4						tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		GGCCCCCTCACCTGCTTGCTA	0.706													21	57					1.10923e-09	1.72898e-09	1	0	A	44299516	C	A	44299516	5	1	257	1	0	0	0	0	0	0	1	0	17389	521	18	4	1192	4	WDR4	21	44299516	Splice_Site	SNP	C	TCGA-CV-6942-01A-21D-2012-08	768441	44299516	3830379	231	46179											
COL6A2	1292	broad.mit.edu	37	chr21	47549243	47549243	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcacgcaggacccggcCgcctactcccagctggtggc	6	5	13	17	3	1	0	1	0	0	0	2	2	2	1	4	4	3	3	4	4	1	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:47549243C>T	ENST00000357838.4	+	28	2677	c.2595C>T	c.(2593-2595)gcC>gcT	p.A865A	COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Silent_p.A865A|COL6A2_ENST00000409416.1_3'UTR	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGGACCCGGCCGCCTACTCCC	0.657													21	100					0	0	0	0	T	47549243	C	T	47549243	2	4	257	1	0	0	0	0	0	0	0	1	3730	639	23	1		1	COL6A2	21	47549243	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	3249727	47549243	580652	232	46180											
MCM3AP	8888	broad.mit.edu	37	chr21	47665030	47665030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcatggccaatcccgtcttCgacgtactgaatgagagtct	9	11	9	12	3	3	2	1	2	2	1	5	4	4	2	2	1	1	1	2	1	3	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:47665030C>T	ENST00000397708.1	-	24	4983	c.4729G>A	c.(4729-4731)Gaa>Aaa	p.E1577K	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1577K|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1577					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ATCCCGTCTTCGACGTACTGA	0.542													16	56					0	0	0	0	T	47665030	C	T	47665030	3	4	257	1	0	0	0	0	1	0	0	0	9457	893	31	1	1237	1	MCM3AP	21	47665030	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	115787	47665030	464865	233	46181											
XKR3	150165	broad.mit.edu	37	chr22	17288845	17288845	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccacagtagagaacagttGagaagataatgctaaaagga	19	6	10	6	0	0	3	0	1	0	3	0	6	0	4	1	1	2	3	1	1	6	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:17288845G>C	ENST00000331428.5	-	2	221	c.119C>G	c.(118-120)tCa>tGa	p.S40*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	40						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAGAACAGTTGAGAAGATAAT	0.388													15	59					0	0	0	0	C	17288845	G	C	17288845	4	2	257	1	0	0	0	0	0	1	0	0	17528	1294	45	2	1272	2	XKR3	22	17288845	Nonsense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08		17288845	34015721	234	46182											
LIF	3976	broad.mit.edu	37	chr22	30639779	30639779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggcccacgtggtacttgCtgcacaggcggcacagcacg	8	6	13	14	3	0	0	0	0	0	0	0	0	0	0	1	4	4	5	1	4	1	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:30639779C>A	ENST00000249075.3	-	3	625	c.470G>T	c.(469-471)aGc>aTc	p.S157I	LIF_ENST00000403987.3_3'UTR	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	157					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GTGGTACTTGCTGCACAGGCG	0.607													24	59					1.17739e-12	1.90295e-12	1	0	A	30639779	C	A	30639779	3	1	257	1	0	0	0	0	1	0	0	0	8833	797	28	4	142	4	LIF	22	30639779	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	13350934	30639779	20664787	235	46183											
CSNK1E	1454	broad.mit.edu	37	chr22	38690154	38690154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagacctcttgccgcccagtGaggtctgaggaggagacgtt	8	8	15	10	2	2	4	0	2	2	2	2	7	2	5	3	3	1	1	3	3	0	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:38690154G>A	ENST00000396832.1	-	9	1439	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	CSNK1E_ENST00000403904.1_Silent_p.L393L|CSNK1E_ENST00000400206.2_Silent_p.L393L|CSNK1E_ENST00000359867.3_Silent_p.L393L	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	393					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GCCGCCCAGTGAGGTCTGAGG	0.647													6	38					0	0	0	0	A	38690154	G	A	38690154	2	1	257	1	0	0	0	0	0	0	0	1	3985	1277	45	2		2	CSNK1E	22	38690154	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	8050375	38690154	12614412	236	46184											
PKDREJ	10343	broad.mit.edu	37	chr22	46657509	46657509	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataagtgcaattcctttagCtggattaattttgcattctc	11	17	6	7	0	1	0	0	0	1	0	3	1	2	1	1	1	3	3	1	1	5	8			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:46657509C>G	ENST00000253255.5	-	1	1710	c.1711G>C	c.(1711-1713)Gct>Cct	p.A571P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	571	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTCCTTTAGCTGGATTAATT	0.368													7	51					0	0	0	0	G	46657509	C	G	46657509	3	3	257	1	0	0	0	0	1	0	0	0	12042	797	28	4	5054	4	PKDREJ	22	46657509	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	7967355	46657509	4647057	237	46185											
CELSR1	9620	broad.mit.edu	37	chr22	46780555	46780555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctggctcccgtaaagttGaacttgtcaaagatgtcgac	11	10	9	11	2	1	2	1	1	0	1	3	3	2	2	2	1	1	3	2	1	4	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:46780555G>T	ENST00000262738.3	-	20	6767	c.6768C>A	c.(6766-6768)ttC>ttA	p.F2256L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2256					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCGTAAAGTTGAACTTGTCAA	0.522													7	37					0.000274275	0.000400442	1	0	T	46780555	G	T	46780555	3	4	257	1	0	0	0	0	1	0	0	0	3250	1281	45	2	2340	2	CELSR1	22	46780555	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	123046	46780555	4524011	238	46186											
MXRA5	25878	broad.mit.edu	37	chrX	3238066	3238066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtggaaacctttgtcCaagtaacgaaaggctttggt	11	12	10	8	1	0	0	0	0	0	0	1	2	1	1	3	3	3	2	3	3	5	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:3238066C>A	ENST00000217939.6	-	5	5814	c.5660G>T	c.(5659-5661)tGg>tTg	p.W1887L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1887	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AACCTTTGTCCAAGTAACGAA	0.393													16	58					0.00074312	0.00107421	1	0	A	3238066	C	A	3238066	3	1	257	1	0	0	0	0	1	0	0	0	10073	595	21	4	2838	4	MXRA5	23	3238066	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08		3238066	152032494	239	46187											
ARHGAP6	395	broad.mit.edu	37	chrX	11197434	11197434	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgcacagagagtgttgaTgaaagctgtgtacagctccc	11	10	11	9	1	0	3	0	2	0	1	1	4	1	3	1	0	4	5	1	0	3	3	rs147456861		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:11197434T>C	ENST00000337414.4	-	7	2340	c.1468A>G	c.(1468-1470)Atc>Gtc	p.I490V	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.I287V|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.I490V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.I522V|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.I315V|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.I287V|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.I299V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	490	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGAGTGTTGATGAAAGCTGTG	0.483													29	93					0	0	0	0	C	11197434	T	C	11197434	3	2	257	1	0	0	0	0	1	0	0	0	889	1464	51	5	1606	5	ARHGAP6	23	11197434	Missense_Mutation	SNP	T	TCGA-CV-6942-01A-21D-2012-08	7959368	11197434	144073126	240	46188											
DMD	1756	broad.mit.edu	37	chrX	32366610	32366610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaatttttgtatatctgaGttaaactgctccaattcctt	11	17	5	8	0	1	1	0	1	1	0	3	1	3	1	2	0	3	4	2	0	6	7			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:32366610G>T	ENST00000357033.4	-	38	5567	c.5361C>A	c.(5359-5361)aaC>aaA	p.N1787K	DMD_ENST00000378677.2_Missense_Mutation_p.N1783K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1787	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTATATCTGAGTTAAACTGCT	0.333													9	40					1.12685e-05	1.66743e-05	1	0	T	32366610	G	T	32366610	3	4	257	1	0	0	0	0	1	0	0	0	4617	1020	36	4	6012	4	DMD	23	32366610	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	21169176	32366610	122903950	241	46189											
XK	7504	broad.mit.edu	37	chrX	37586996	37586996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagtcaaagtgaagcctCtggcctatgtctgtatcttc	10	13	9	9	0	4	2	1	2	3	0	5	2	4	2	2	1	1	1	2	1	5	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:37586996C>T	ENST00000378616.3	+	3	819	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	206					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AGTGAAGCCTCTGGCCTATGT	0.493													10	39					0	0	0	0	T	37586996	C	T	37586996	2	4	257	1	0	0	0	0	0	0	0	1	17527	912	32	2		2	XK	23	37586996	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	5220386	37586996	117683564	242	46190											
ERAS	3266	broad.mit.edu	37	chrX	48687838	48687838	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcagggcaggccatccAtagggccctgcgtgaccagt	9	5	13	14	1	0	1	0	1	0	0	1	1	1	1	4	3	2	2	4	3	1	1			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:48687838A>T	ENST00000338270.1	+	1	556	c.305A>T	c.(304-306)cAt>cTt	p.H102L		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	102					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						CAGGCCATCCATAGGGCCCTG	0.597													20	83					0	0	0	0	T	48687838	A	T	48687838	3	4	257	1	0	0	0	0	1	0	0	0	5243	217	8	5	307	5	ERAS	23	48687838	Missense_Mutation	SNP	A	TCGA-CV-6942-01A-21D-2012-08	11100842	48687838	106582722	243	46191											
WNK3	65267	broad.mit.edu	37	chrX	54337720	54337720	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctcagctttggttaactttCggtcctgaaaaggaataaca	12	12	9	8	1	1	1	1	1	0	0	3	2	2	2	1	3	3	3	1	3	5	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:54337720C>G	ENST00000354646.2	-	3	980	c.542G>C	c.(541-543)cGa>cCa	p.R181P	WNK3_ENST00000375159.2_Missense_Mutation_p.R181P|WNK3_ENST00000375169.3_Missense_Mutation_p.R181P	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	181	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGTTAACTTTCGGTCCTGAAA	0.378													8	18					0	0	0	0	G	54337720	C	G	54337720	3	3	257	1	0	0	0	0	1	0	0	0	17475	884	31	3	4948	3	WNK3	23	54337720	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	5649882	54337720	100932840	244	46192											
RRAGB	10325	broad.mit.edu	37	chrX	55757890	55757890	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatgtctttgatgtggagagCcgcgaactggaaaaggacat	12	10	13	6	2	1	2	0	1	1	1	1	6	1	4	1	3	2	0	1	3	4	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:55757890C>T	ENST00000374941.4	+	5	976	c.387C>T	c.(385-387)agC>agT	p.S129S	RRAGB_ENST00000474757.1_3'UTR|RRAGB_ENST00000262850.7_Silent_p.S157S	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	157					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						ATGTGGAGAGCCGCGAACTGG	0.433													3	19					0	0	0	0	T	55757890	C	T	55757890	2	4	257	1	0	0	0	0	0	0	0	1	13758	738	26	4		4	RRAGB	23	55757890	Silent	SNP	C	TCGA-CV-6942-01A-21D-2012-08	1420170	55757890	99512670	245	46193											
ACRC	93953	broad.mit.edu	37	chrX	70824232	70824232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagcatgattcatctgatGatgctggtgagcaggatctt	9	12	11	9	0	3	4	1	4	2	0	3	5	3	5	1	2	3	3	1	2	0	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:70824232G>A	ENST00000373695.1	+	7	1642	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N	ACRC_ENST00000373696.3_Missense_Mutation_p.D369N			Q96QF7	ACRC_HUMAN	acidic repeat containing	369						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TTCATCTGATGATGCTGGTGA	0.483													11	43					0	0	0	0	A	70824232	G	A	70824232	3	1	257	1	0	0	0	0	1	0	0	0	171	1290	45	2	1131	2	ACRC	23	70824232	Missense_Mutation	SNP	G	TCGA-CV-6942-01A-21D-2012-08	15066342	70824232	84446328	246	46194											
MAGEE1	57692	broad.mit.edu	37	chrX	75649321	75649321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactgagcacctccgtgcCgcccaccgccactgaggagt	7	5	13	16	3	0	2	0	2	0	0	1	4	1	4	6	2	2	1	6	2	0	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:75649321C>T	ENST00000361470.2	+	1	1276	c.998C>T	c.(997-999)cCg>cTg	p.P333L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	333	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						ACCTCCGTGCCGCCCACCGCC	0.697													9	32					0	0	0	0	T	75649321	C	T	75649321	3	4	257	1	0	0	0	0	1	0	0	0	9254	652	23	1	1000	1	MAGEE1	23	75649321	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	4825089	75649321	79621239	247	46195											
ACSL4	2182	broad.mit.edu	37	chrX	108926454	108926454	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttcttcccaaacttggAtacagcatggtcaaataatt	12	13	6	10	0	2	0	1	0	1	0	4	1	4	1	2	2	3	1	2	2	4	6			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:108926454A>T	ENST00000340800.2	-	4	766	c.262T>A	c.(262-264)Tcc>Acc	p.S88T	ACSL4_ENST00000469796.2_Missense_Mutation_p.S88T|ACSL4_ENST00000348502.6_Missense_Mutation_p.S47T	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	88					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	CCAAACTTGGATACAGCATGG	0.413													35	140					0	0	0	0	T	108926454	A	T	108926454	3	4	257	1	0	0	0	0	1	0	0	0	179	333	12	5	1929	5	ACSL4	23	108926454	Missense_Mutation	SNP	A	TCGA-CV-6942-01A-21D-2012-08	33277133	108926454	46344106	248	46196											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299536	125299536	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtggcctgactgcacGtccaccacaaacagcgtatt	10	9	10	12	2	0	2	0	2	0	0	1	2	1	2	3	1	3	2	3	1	2	2			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:125299536G>A	ENST00000538699.1	-	2	452	c.372C>T	c.(370-372)gaC>gaT	p.D124D	DCAF12L2_ENST00000360028.2_Silent_p.D124D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	124										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTGACTGCACGTCCACCACAA	0.642													11	91					0	0	0	0	A	125299536	G	A	125299536	2	1	257	1	0	0	0	0	0	0	0	1	4298	1136	40	1		1	DCAF12L2	23	125299536	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	16373082	125299536	29971024	249	46197											
ZNF449	203523	broad.mit.edu	37	chrX	134493848	134493848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaaacttgacatgaacttCtcattggagaatagagaaga	17	9	8	7	0	1	5	1	2	1	3	2	7	1	5	1	1	2	0	1	1	6	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:134493848C>G	ENST00000339249.4	+	4	731	c.591C>G	c.(589-591)ttC>ttG	p.F197L		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	197					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACATGAACTTCTCATTGGAGA	0.363													33	91					0	0	0	0	G	134493848	C	G	134493848	3	3	257	1	0	0	0	0	1	0	0	0	18015	912	32	2	601	2	ZNF449	23	134493848	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	9194312	134493848	20776712	250	46198											
ATP11C	286410	broad.mit.edu	37	chrX	138871517	138871517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtcaaaatatgttaaagttCcatcagtttgagataatcca	15	14	6	6	0	2	1	2	1	0	1	4	2	4	1	2	0	0	3	2	0	6	5			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:138871517C>T	ENST00000370557.1	-	13	2364	c.1337G>A	c.(1336-1338)gGa>gAa	p.G446E	ATP11C_ENST00000370543.1_Missense_Mutation_p.G449E|ATP11C_ENST00000327569.3_Missense_Mutation_p.G449E|ATP11C_ENST00000361648.2_Missense_Mutation_p.G449E|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Missense_Mutation_p.G449E			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	449					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGTTAAAGTTCCATCAGTTTG	0.328													11	44					0	0	0	0	T	138871517	C	T	138871517	3	4	257	1	0	0	0	0	1	0	0	0	1125	855	30	2	2187	2	ATP11C	23	138871517	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	4377669	138871517	16399043	251	46199											
MAGEC2	51438	broad.mit.edu	37	chrX	141290746	141290746	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcaattgtggcctggactCtctcttccacatctttcaaa	9	15	5	12	0	5	0	2	0	3	0	7	1	6	1	2	2	0	0	2	2	3	4			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:141290746C>G	ENST00000247452.3	-	3	1375	c.1028G>C	c.(1027-1029)aGa>aCa	p.R343T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	343						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGGACTCTCTCTTCCAC	0.453										HNSCC(46;0.14)			30	135					0	0	0	0	G	141290746	C	G	141290746	3	3	257	1	0	0	0	0	1	0	0	0	9250	913	32	2	97	2	MAGEC2	23	141290746	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	2419229	141290746	13979814	252	46200											
SLITRK4	139065	broad.mit.edu	37	chrX	142717244	142717244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaaactgaacaggcgtctCacatttcagttctttcacaa	12	11	7	11	1	4	1	3	1	2	0	5	1	4	1	0	2	2	2	0	2	3	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:142717244C>T	ENST00000381779.4	-	2	1906	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	SLITRK4_ENST00000356928.1_Missense_Mutation_p.E561K|SLITRK4_ENST00000338017.4_Missense_Mutation_p.E561K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	561	LRRCT 2.					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)					ACAGGCGTCTCACATTTCAGT	0.458													35	123					0	0	0	0	T	142717244	C	T	142717244	3	4	257	1	0	0	0	0	1	0	0	0	14833	835	29	2	836	2	SLITRK4	23	142717244	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	1426498	142717244	12553316	253	46201											
ARHGAP4	393	broad.mit.edu	37	chrX	153178184	153178184	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctccatgtctcccccaaaGagtctctggttatactggga	8	13	8	12	0	3	1	0	0	3	1	6	2	3	2	3	2	1	1	3	2	3	3			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:153178184G>C	ENST00000370028.3	-	13	1689	c.1632C>G	c.(1630-1632)ctC>ctG	p.L544L	ARHGAP4_ENST00000537206.1_Silent_p.L481L|ARHGAP4_ENST00000350060.5_Silent_p.L504L|ARHGAP4_ENST00000370016.1_Silent_p.L483L|ARHGAP4_ENST00000393721.1_Silent_p.L326L	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	504	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCCCAAAGAGTCTCTGGT	0.552													33	115					0	0	0	0	C	153178184	G	C	153178184	2	2	257	1	0	0	0	0	0	0	0	1	887	929	33	2		2	ARHGAP4	23	153178184	Silent	SNP	G	TCGA-CV-6942-01A-21D-2012-08	10460940	153178184	2092376	254	46202											
ARHGAP4	393	broad.mit.edu	37	chrX	153178994	153178994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaatcaagcacatcccCgtcatccgaggccaccacct	12	5	8	16	2	2	0	2	0	0	0	4	3	4	1	6	2	1	1	6	2	3	0			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:153178994C>T	ENST00000370028.3	-	10	1372	c.1315G>A	c.(1315-1317)Ggg>Agg	p.G439R	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.G376R|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.G399R|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.G378R|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.G221R	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	399					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCACATCCCCGTCATCCGAG	0.657													25	68					0	0	0	0	T	153178994	C	T	153178994	3	4	257	1	0	0	0	0	1	0	0	0	887	652	23	1	1701	1	ARHGAP4	23	153178994	Missense_Mutation	SNP	C	TCGA-CV-6942-01A-21D-2012-08	810	153178994	2091566	255	46203											
ENO1	2023	broad.mit.edu	37	chr1	8928111	8928111	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcttgttctgtgacgttCagtttctacgagggagaggg	6	15	13	7	2	4	2	1	1	3	1	5	4	4	2	0	2	1	3	0	2	1	6			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:8928111C>G	ENST00000234590.4	-	5	365	c.246G>C	c.(244-246)ctG>ctC	p.L82L		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	82					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CTGTGACGTTCAGTTTCTACG	0.473													21	304					0	0	0	0	G	8928111	C	G	8928111	2	3	258	1	0	0	0	0	0	0	0	1	5159	813	29	2		2	ENO1	1	8928111	Silent	SNP	C	TCGA-CV-6943-01A-11D-1912-08		8928111	240322510	1	46204											
KIF1B	23095	broad.mit.edu	37	chr1	10357284	10357284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggaagaagcagatcttCttttggagcagcagagactg	14	8	13	6	0	2	4	0	0	2	4	2	7	2	6	0	2	3	3	0	2	3	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:10357284C>A	ENST00000377086.1	+	22	2297	c.2095C>A	c.(2095-2097)Ctt>Att	p.L699I	KIF1B_ENST00000377093.4_Missense_Mutation_p.L653I|KIF1B_ENST00000377083.1_Missense_Mutation_p.L653I|KIF1B_ENST00000263934.6_Missense_Mutation_p.L653I|KIF1B_ENST00000377081.1_Missense_Mutation_p.L699I			O60333	KIF1B_HUMAN	kinesin family member 1B	699					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGCAGATCTTCTTTTGGAGCA	0.393													19	143					2.37509e-13	1.50232e-12	1	0	A	10357284	C	A	10357284	3	1	258	1	0	0	0	0	1	0	0	0	8335	913	32	2	2031	2	KIF1B	1	10357284	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	1429173	10357284	238893337	2	46205											
TCHHL1	126637	broad.mit.edu	37	chr1	152058381	152058381	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttccctgcctctgggtatCtgggttattattgtgacctc	4	17	10	10	0	2	1	0	1	2	0	4	1	3	1	3	2	1	3	3	2	3	5			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:152058381C>G	ENST00000368806.1	-	3	1841	c.1777G>C	c.(1777-1779)Gat>Cat	p.D593H		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	593							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCTGGGTATCTGGGTTATTA	0.542													11	181					0	0	0	0	G	152058381	C	G	152058381	3	3	258	1	0	0	0	0	1	0	0	0	15795	913	32	2	941	2	TCHHL1	1	152058381	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	141701097	152058381	97192240	3	46206											
F13B	2165	broad.mit.edu	37	chr1	197021931	197021931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttcatttctatgttatttCtgttcatgtaatccacatta	10	20	3	8	0	4	0	2	0	2	0	5	0	5	0	1	0	0	3	1	0	4	8			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:197021931C>G	ENST00000367412.1	-	9	1431	c.1388G>C	c.(1387-1389)aGa>aCa	p.R463T		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	463	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TATGTTATTTCTGTTCATGTA	0.279													8	71					0	0	0	0	G	197021931	C	G	197021931	3	3	258	1	0	0	0	0	1	0	0	0	5379	913	32	2	613	2	F13B	1	197021931	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	44963550	197021931	52228690	4	46207											
ATP2B4	493	broad.mit.edu	37	chr1	203652440	203652440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagctcatggagctgcGttcaagggatgcactgaccc	10	7	14	10	1	2	1	2	1	0	0	2	5	2	4	1	3	4	4	1	3	2	1			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:203652440G>A	ENST00000357681.5	+	2	1230	c.107G>A	c.(106-108)cGt>cAt	p.R36H	ATP2B4_ENST00000391954.2_Missense_Mutation_p.R36H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R36H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R36H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R36H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	36					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGGAGCTGCGTTCAAGGGAT	0.522													10	165					0	0	0	0	A	203652440	G	A	203652440	3	1	258	1	0	0	0	0	1	0	0	0	1146	1145	40	1	109	1	ATP2B4	1	203652440	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	6630509	203652440	45598181	5	46208											
EMILIN1	11117	broad.mit.edu	37	chr2	27306123	27306123	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttcacactacggctgaatCtcactgcggcccggctaggc	8	8	11	14	3	2	1	2	1	1	0	3	1	2	1	1	4	2	3	1	4	3	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:27306123C>G	ENST00000380320.4	+	4	2183	c.1684C>G	c.(1684-1686)Ctc>Gtc	p.L562V		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	562					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGCTGAATCTCACTGCGGC	0.642													7	51					0	0	0	0	G	27306123	C	G	27306123	3	3	258	1	0	0	0	0	1	0	0	0	5131	913	32	2	1698	2	EMILIN1	2	27306123	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08		27306123	215893250	6	46209											
SOS1	6654	broad.mit.edu	37	chr2	39250272	39250272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtccaatgtcttttccctCccaaccatcaatattcttct	8	16	2	15	0	4	0	1	0	3	0	7	0	7	0	4	0	1	0	4	0	4	5			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:39250272C>T	ENST00000426016.1	-	11	1383	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	SOS1_ENST00000402219.2_Missense_Mutation_p.E433K|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.E433K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	433			E -> K (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.E433K(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCTTTTCCCTCCCAACCATCA	0.388									Noonan syndrome				5	78					0	0	0	0	T	39250272	C	T	39250272	3	4	258	1	0	0	0	0	1	0	0	0	15024	864	30	2	2760	2	SOS1	2	39250272	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	11944149	39250272	203949101	7	46210											
RGPD4	285190	broad.mit.edu	37	chr2	108488225	108488225	+	Silent	SNP	G	G	A																															tgggataactgtgatttaagGgaagatgctttggatgatag																										TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:108488225G>A	ENST00000408999.3	+	20	3842	c.3765G>A	c.(3763-3765)agG>agA	p.R1255R	RGPD4_ENST00000354986.4_Silent_p.R1255R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1255					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTGATTTAAGGGAAGATGCTT	0.448													69	392					0	0	0	0	A	108488225	G	A	108488225	2	1	258	1	0	0	0	0	0	0	0	1	13370	1223	43	4		4	RGPD4	2	108488225	Silent	SNP	G	TCGA-CV-6943-01A-11D-1912-08	69237953	108488225	134711148	8	46211	350	2									
RGPD4	285190	broad.mit.edu	37	chr2	108488226	108488226	+	Missense_Mutation	SNP	G	G	A																															gggataactgtgatttaaggGaagatgctttggatgatagt																										TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:108488226G>A	ENST00000408999.3	+	20	3843	c.3766G>A	c.(3766-3768)Gaa>Aaa	p.E1256K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1256K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1256					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGATTTAAGGGAAGATGCTTT	0.453													67	388					0	0	0	0	A	108488226	G	A	108488226	3	1	258	1	0	0	0	0	1	0	0	0	13370	1175	41	2	3844	2	RGPD4	2	108488226	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	1	108488226	134711147	9	46212	350	2									
NCKAP5	344148	broad.mit.edu	37	chr2	133541833	133541833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaggggccctgagctctCagtcttcatgaatcgtgaga	11	9	12	9	1	3	4	2	3	2	2	5	5	3	4	1	2	1	1	1	2	2	1			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:133541833C>T	ENST00000409261.1	-	14	2924	c.2551G>A	c.(2551-2553)Gag>Aag	p.E851K	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E851K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	851							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCTGAGCTCTCAGTCTTCATG	0.537													8	142					0	0	0	0	T	133541833	C	T	133541833	3	4	258	1	0	0	0	0	1	0	0	0	10293	835	29	2	3206	2	NCKAP5	2	133541833	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	25053607	133541833	109657540	10	46213											
CASP8	841	broad.mit.edu	37	chr2	202137479	202137481	+	In_Frame_Del	DEL	ACT	ACT	-																															cctgctgaagataatcaacgActatgaagaattcagcaaag																										TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:202137479_202137481delACT	ENST00000358485.4	+	4	903_905	c.707_709delACT	c.(706-711)gat>g	p.DY236del	CASP8_ENST00000432109.2_In_Frame_Del_p.DY177del|CASP8_ENST00000264274.9_In_Frame_Del_p.DY177del|CASP8_ENST00000392258.3_In_Frame_Del_p.DY177del|CASP8_ENST00000392259.2_In_Frame_Del_p.DY177del|CASP8_ENST00000323492.7_In_Frame_Del_p.DY177del|CASP8_ENST00000392266.3_In_Frame_Del_p.DY177del|CASP8_ENST00000264275.5_In_Frame_Del_p.DY209del	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	177					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATAATCAACGACTATGAAGAATT	0.429										HNSCC(4;0.00038)			28	119	---	---	---	---					-	202137481	ACT	-	202137479	7	5	258	1	0	1	0	1	0	0	0	0	2702	275	10	0	821	0	CASP8	2	202137479	In_Frame_Del	DEL	ACT	TCGA-CV-6943-01A-11D-1912-08	68595646	202137479	41061894	11	46214											
TGFBR2	7048	broad.mit.edu	37	chr3	30691947	30691947	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatgacaacatcatcttctCagaaggtgagttttcttctc	11	14	6	10	0	5	3	2	2	4	1	7	3	5	3	0	1	1	1	0	1	3	4			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr3:30691947C>G	ENST00000295754.5	+	3	831	c.449C>G	c.(448-450)tCa>tGa	p.S150*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S175*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	150					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATCATCTTCTCAGAAGGTGAG	0.433													4	62					0	0	0	0	G	30691947	C	G	30691947	4	3	258	1	0	0	0	0	0	1	0	0	15916	838	29	2	538	2	TGFBR2	3	30691947	Nonsense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08		30691947	167330483	12	46215											
RBM15B	29890	broad.mit.edu	37	chr3	51430468	51430468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccgagaccggacttttttGgaaggggactggaccagccc	9	7	14	11	2	0	1	0	0	0	1	0	7	0	5	4	5	1	0	4	5	1	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr3:51430468G>A	ENST00000323686.4	+	1	1738	c.1638G>A	c.(1636-1638)ttG>ttA	p.L546L		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	546					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGACTTTTTTGGAAGGGGACT	0.627													6	55					0	0	0	0	A	51430468	G	A	51430468	2	1	258	1	0	0	0	0	0	0	0	1	13199	1339	47	4		4	RBM15B	3	51430468	Silent	SNP	G	TCGA-CV-6943-01A-11D-1912-08	20738521	51430468	146591962	13	46216											
FXR1	8087	broad.mit.edu	37	chr3	180685878	180685878	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taacccctctgaaacggaatCtgagcgtaaagacgagctga	14	7	10	10	3	2	4	0	3	2	1	2	6	2	5	2	1	4	2	2	1	5	2			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr3:180685878C>G	ENST00000357559.4	+	14	1622	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C	FXR1_ENST00000305586.7_Missense_Mutation_p.S328C|FXR1_ENST00000491062.1_Missense_Mutation_p.S364C|FXR1_ENST00000468861.1_Missense_Mutation_p.S328C|FXR1_ENST00000445140.2_Missense_Mutation_p.S413C|FXR1_ENST00000480918.1_Missense_Mutation_p.S400C	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	413					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GAAACGGAATCTGAGCGTAAA	0.448													14	83					0	0	0	0	G	180685878	C	G	180685878	3	3	258	1	0	0	0	0	1	0	0	0	6163	913	32	2	1292	2	FXR1	3	180685878	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	129255410	180685878	17336552	14	46217											
FAT4	79633	broad.mit.edu	37	chr4	126241929	126241929	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcagacattaatggtcaaCtatcctacacaatcattcaa	16	11	4	10	0	3	1	3	0	0	1	4	1	4	1	1	1	3	1	1	1	6	4			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr4:126241929C>G	ENST00000394329.3	+	1	4376	c.4363C>G	c.(4363-4365)Cta>Gta	p.L1455V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1455	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAATGGTCAACTATCCTACAC	0.393													5	104					0	0	0	0	G	126241929	C	G	126241929	3	3	258	1	0	0	0	0	1	0	0	0	5737	564	20	4	4365	4	FAT4	4	126241929	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08		126241929	64912347	15	46218											
FAT1	2195	broad.mit.edu	37	chr4	187539417	187539417	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggccagtatggaaaactGataccacttagttgtctcat	11	12	8	10	0	1	1	1	1	1	0	2	2	1	2	3	2	2	2	3	2	5	4			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr4:187539417G>A	ENST00000441802.2	-	10	8532	c.8323C>T	c.(8323-8325)Cag>Tag	p.Q2775*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2775	Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGAAAACTGATACCACTTA	0.453										HNSCC(5;0.00058)			21	237					0	0	0	0	A	187539417	G	A	187539417	4	1	258	1	0	0	0	0	0	1	0	0	5734	1299	45	2	5515	2	FAT1	4	187539417	Nonsense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	61297488	187539417	3614859	16	46219											
NDUFAF2	91942	broad.mit.edu	37	chr5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacccctactgcgggtcccGctgctggcagcgctggaaac	6	8	12	15	3	0	0	0	0	0	0	1	1	1	1	3	3	6	4	3	3	3	2			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632													4	18					0	0	0	0	A	60241050	G	A	60241050	1	1	258	1	0	0	0	0	0	0	0	0	10345	1102	38	1		1	NDUFAF2	5	60241050	Translation_Start_Site	SNP	G	TCGA-CV-6943-01A-11D-1912-08		60241050	120674210	17	46220											
PGBD1	84547	broad.mit.edu	37	chr6	28269233	28269233	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatgaataaaaatttcctCttgtatgctcccctggaaga	14	12	6	9	0	1	2	0	1	1	1	3	3	3	3	3	1	1	2	3	1	7	4			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:28269233C>G	ENST00000405948.2	+	7	2022	c.1602C>G	c.(1600-1602)ctC>ctG	p.L534L	PGBD1_ENST00000259883.3_Silent_p.L534L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	534					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAAATTTCCTCTTGTATGCTC	0.353													3	85					0	0	0	0	G	28269233	C	G	28269233	2	3	258	1	0	0	0	0	0	0	0	1	11852	900	32	2		2	PGBD1	6	28269233	Silent	SNP	C	TCGA-CV-6943-01A-11D-1912-08		28269233	142845834	18	46221											
HLA-A	3105	broad.mit.edu	37	chr6	29912175	29912175	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccctcaccctgagatgggGtaaggagggagatgggggtg	8	6	19	8	0	1	2	1	1	0	2	1	5	1	3	3	6	0	1	3	6	1	1	rs41547331		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:29912175G>T	ENST00000396634.1	+	6	1236		c.e6+1		HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site|HLA-A_ENST00000376802.2_Splice_Site			P30443	1A01_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTGAGATGGGGTAAGGAGGGA	0.597									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			7	37					8.12818e-05	0.000474144	1	0	T	29912175	G	T	29912175	5	4	258	1	0	0	0	0	0	0	1	0	7245	1275	44	4	910	4	HLA-A	6	29912175	Splice_Site	SNP	G	TCGA-CV-6943-01A-11D-1912-08	1642942	29912175	141202892	19	46222											
USP49	25862	broad.mit.edu	37	chr6	41773790	41773790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaggacagctccgtggccGagctgttggttggcttgcca	6	10	14	11	2	1	0	1	0	0	0	2	2	2	1	3	4	3	5	3	4	1	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:41773790G>A	ENST00000394253.3	-	3	1261	c.932C>T	c.(931-933)tCg>tTg	p.S311L	USP49_ENST00000297229.2_Missense_Mutation_p.S311L|USP49_ENST00000373009.3_Missense_Mutation_p.S311L|USP49_ENST00000373006.1_Missense_Mutation_p.S311L|USP49_ENST00000373010.1_Missense_Mutation_p.S311L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	311					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCCGTGGCCGAGCTGTTGGT	0.572													7	72					0	0	0	0	A	41773790	G	A	41773790	3	1	258	1	0	0	0	0	1	0	0	0	17176	1059	37	1	1006	1	USP49	6	41773790	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	11861615	41773790	129341277	20	46223											
KIAA1009	22832	broad.mit.edu	37	chr6	84872909	84872909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttggtccctctctttcttCattttttcgaagtctacttc	4	20	5	12	1	4	0	1	0	3	0	8	1	5	0	1	1	1	1	1	1	2	8			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:84872909C>T	ENST00000403245.3	-	19	2580	c.2466G>A	c.(2464-2466)atG>atA	p.M822I	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.M746I	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	822					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCTCTTTCTTCATTTTTTCGA	0.333													13	119					0	0	0	0	T	84872909	C	T	84872909	3	4	258	1	0	0	0	0	1	0	0	0	8254	826	29	2	1781	2	KIAA1009	6	84872909	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	43099119	84872909	86242158	21	46224											
ARID1B	57492	broad.mit.edu	37	chr6	157528758	157528758	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcattggaaacttgataagCttcctagaggatggggtcac	12	10	12	7	0	1	2	1	1	0	1	2	4	2	4	1	4	3	2	1	4	3	5			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:157528758C>T	ENST00000346085.5	+	20	6484	c.6483C>T	c.(6481-6483)agC>agT	p.S2161S	ARID1B_ENST00000275248.4_Silent_p.S2143S|ARID1B_ENST00000367148.1_Silent_p.S2201S|ARID1B_ENST00000350026.5_Silent_p.S2148S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2148					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACTTGATAAGCTTCCTAGAGG	0.552													7	139					0	0	0	0	T	157528758	C	T	157528758	2	4	258	1	0	0	0	0	0	0	0	1	916	796	28	4		4	ARID1B	6	157528758	Silent	SNP	C	TCGA-CV-6943-01A-11D-1912-08	72655849	157528758	13586309	22	46225											
TAGAP	117289	broad.mit.edu	37	chr6	159463226	159463226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatctgatgcaggggagaGccttctcatgagaaagggcc	13	7	13	8	0	2	3	1	2	2	2	3	5	2	3	2	3	2	1	2	3	3	1			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:159463226G>T	ENST00000367066.3	-	5	530	c.199C>A	c.(199-201)Ctc>Atc	p.L67I	TAGAP_ENST00000338313.5_Missense_Mutation_p.L67I|TAGAP_ENST00000326965.6_Intron|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	67					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCAGGGGAGAGCCTTCTCATG	0.448													9	217					0.000274275	0.00156516	1	0	T	159463226	G	T	159463226	3	4	258	1	0	0	0	0	1	0	0	0	15628	971	34	4	2038	4	TAGAP	6	159463226	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	1934468	159463226	11651841	23	46226											
MYOM2	9172	broad.mit.edu	37	chr8	2020522	2020522	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaggcgagacggtcactctCaagtgcaccatgctggtgac	10	7	13	11	2	2	2	2	1	1	1	3	4	2	2	1	3	2	2	1	3	2	0			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr8:2020522C>G	ENST00000262113.4	+	9	1032	c.891C>G	c.(889-891)ctC>ctG	p.L297L	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	297	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGGTCACTCTCAAGTGCACCA	0.617													3	31					0	0	0	0	G	2020522	C	G	2020522	2	3	258	1	0	0	0	0	0	0	0	1	10162	813	29	2		2	MYOM2	8	2020522	Silent	SNP	C	TCGA-CV-6943-01A-11D-1912-08		2020522	144343500	24	46227											
UBR5	51366	broad.mit.edu	37	chr8	103358503	103358503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctggctgtatcatccccatCatctccatcttcatcatccc	7	13	4	17	0	6	0	4	0	2	0	9	0	8	0	4	1	0	3	4	1	1	2			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr8:103358503C>T	ENST00000520539.1	-	7	1303	c.697G>A	c.(697-699)Gat>Aat	p.D233N	UBR5_ENST00000220959.4_Missense_Mutation_p.D233N|UBR5_ENST00000521922.1_Missense_Mutation_p.D233N	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	233					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCATCCCCATCATCTCCATCT	0.433													7	99					0	0	0	0	T	103358503	C	T	103358503	3	4	258	1	0	0	0	0	1	0	0	0	17001	826	29	2	7914	2	UBR5	8	103358503	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	101337981	103358503	43005519	25	46228											
RIMS2	9699	broad.mit.edu	37	chr8	104709390	104709390	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcacagcaacagcaagaaCagaagggtgatgcgccaacc	17	3	10	11	1	1	3	1	1	0	2	1	3	1	3	2	1	6	2	2	1	6	0			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr8:104709390C>T	ENST00000406091.3	+	2	253	c.253C>T	c.(253-255)Cag>Tag	p.Q85*		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	116	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAGCAAGAACAGAAGGGTGA	0.413										HNSCC(12;0.0054)			11	78					0	0	0	0	T	104709390	C	T	104709390	4	4	258	1	0	0	0	0	0	1	0	0	13453	479	17	4	259	4	RIMS2	8	104709390	Nonsense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	1350887	104709390	41654632	26	46229											
ATAD2	29028	broad.mit.edu	37	chr8	124359425	124359425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacagtgttttgcaggagtgGtttcacaacggtggacagtg	10	11	14	6	1	1	0	1	0	0	0	1	2	1	2	0	4	3	3	0	4	2	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr8:124359425G>T	ENST00000287394.5	-	16	2226	c.2119C>A	c.(2119-2121)Cca>Aca	p.P707T	ATAD2_ENST00000521903.1_Missense_Mutation_p.P25T	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGCAGGAGTGGTTTCACAACG	0.433													4	116					0.000602214	0.00250151	1	0	T	124359425	G	T	124359425	3	4	258	1	0	0	0	0	1	0	0	0	1075	1261	44	4	2105	4	ATAD2	8	124359425	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	19650035	124359425	22004597	27	46230											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	20					0	0	0	0	A	21971120	G	A	21971120	4	1	258	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08		21971120	119242311	28	46231											
AQP7	364	broad.mit.edu	37	chr9	33385823	33385823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggttgttctcctggtccgtGatggcgaagagacacagctg	7	10	15	9	2	1	2	0	1	1	1	3	4	2	2	2	3	1	3	2	3	1	2			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr9:33385823G>A	ENST00000541274.1	-	5	621	c.172C>T	c.(172-174)Cac>Tac	p.H58Y	AQP7_ENST00000537089.1_Silent_p.I97I|AQP7_ENST00000377425.4_Silent_p.I132I|AQP7_ENST00000539936.1_Silent_p.I189I			O14520	AQP7_HUMAN	aquaporin 7	296					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCTGGTCCGTGATGGCGAAGA	0.622													5	74					0	0	0	0	A	33385823	G	A	33385823	3	1	258	1	0	0	0	0	1	0	0	0	833	1280	45	2	469	2	AQP7	9	33385823	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	11414703	33385823	107827608	29	46232											
APBB1IP	54518	broad.mit.edu	37	chr10	26789871	26789871	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgcagaatcaacatcAttcagcatctctacaagcat	13	11	5	12	0	4	1	3	0	1	1	6	1	5	1	1	0	5	3	1	0	4	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:26789871A>T	ENST00000376236.4	+	5	739	c.284A>T	c.(283-285)cAt>cTt	p.H95L	APBB1IP_ENST00000356785.4_Missense_Mutation_p.H95L	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	95					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AATCAACATCATTCAGCATCT	0.448													9	109					0	0	0	0	T	26789871	A	T	26789871	3	4	258	1	0	0	0	0	1	0	0	0	761	217	8	5	294	5	APBB1IP	10	26789871	Missense_Mutation	SNP	A	TCGA-CV-6943-01A-11D-1912-08		26789871	108744876	30	46233											
FAM13C	220965	broad.mit.edu	37	chr10	61014170	61014170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctgtatcggtcataaaGcggctttatgaggttcttgt	9	16	10	6	2	3	1	1	1	2	0	4	1	3	1	0	3	1	3	0	3	5	7			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:61014170G>A	ENST00000373867.3	-	12	1486	c.1021C>T	c.(1021-1023)Ctt>Ttt	p.L341F	FAM13C_ENST00000435852.2_Missense_Mutation_p.L424F|FAM13C_ENST00000468840.2_Missense_Mutation_p.L341F|FAM13C_ENST00000419214.2_Missense_Mutation_p.L326F|FAM13C_ENST00000442566.3_Missense_Mutation_p.L445F|FAM13C_ENST00000277705.6_Missense_Mutation_p.L445F|FAM13C_ENST00000373868.2_Missense_Mutation_p.L424F|FAM13C_ENST00000422313.2_Missense_Mutation_p.L424F	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	424										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						CGGTCATAAAGCGGCTTTATG	0.348													7	115					0	0	0	0	A	61014170	G	A	61014170	3	1	258	1	0	0	0	0	1	0	0	0	5495	971	34	4	503	4	FAM13C	10	61014170	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	34224299	61014170	74520577	31	46234											
RNLS	55328	broad.mit.edu	37	chr10	90034742	90034742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggaaatccaatcgccatCatccaggggctcttcgcaca	11	8	9	13	2	2	0	1	0	1	0	6	1	4	1	3	3	0	2	3	3	2	1			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:90034742C>T	ENST00000371947.3	-	7	2263	c.924G>A	c.(922-924)atG>atA	p.M308I	RNLS_ENST00000437752.1_Missense_Mutation_p.M225I	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	0						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CAATCGCCATCATCCAGGGGC	0.448													6	54					0	0	0	0	T	90034742	C	T	90034742	3	4	258	1	0	0	0	0	1	0	0	0	13590	826	29	2	27	2	RNLS	10	90034742	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	29020572	90034742	45500005	32	46235											
PLCE1	51196	broad.mit.edu	37	chr10	96028705	96028705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtccttttgcaaggctgtcGaagtgtagaattggactgct	8	13	13	7	1	0	1	0	0	0	1	2	3	1	2	1	3	2	4	1	3	4	4			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:96028705G>A	ENST00000260766.3	+	17	4935	c.4301G>A	c.(4300-4302)cGa>cAa	p.R1434Q	PLCE1_ENST00000371375.1_Missense_Mutation_p.R1126Q|PLCE1_ENST00000371380.2_Missense_Mutation_p.R1434Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.R1126Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1434	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAAGGCTGTCGAAGTGTAGAA	0.488													10	69					0	0	0	0	A	96028705	G	A	96028705	3	1	258	1	0	0	0	0	1	0	0	0	12106	1058	37	1	4649	1	PLCE1	10	96028705	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	5993963	96028705	39506042	33	46236											
HTRA1	5654	broad.mit.edu	37	chr10	124273755	124273755	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcatcaatggacagtcCgtggtctccgccaatgatgt	10	10	10	11	2	3	1	2	1	1	0	5	2	4	2	3	2	1	1	3	2	2	0	rs111580234	byFrequency	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:124273755C>A	ENST00000368984.3	+	9	1451	c.1323C>A	c.(1321-1323)tcC>tcA	p.S441S		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	441	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	p.S441S(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ATGGACAGTCCGTGGTCTCCG	0.473													6	273					5.18039e-06	3.09057e-05	1	0	A	124273755	C	A	124273755	2	1	258	1	0	0	0	0	0	0	0	1	7506	639	23	3		3	HTRA1	10	124273755	Silent	SNP	C	TCGA-CV-6943-01A-11D-1912-08	28245050	124273755	11260992	34	46237											
NUP98	4928	broad.mit.edu	37	chr11	3697545	3697545	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgttgagtcggaggttctAtcaggaggatgatgcagact	9	11	16	5	1	2	3	1	2	1	1	3	6	2	6	0	5	1	3	0	5	1	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:3697545A>G	ENST00000324932.7	-	33	5667	c.5247T>C	c.(5245-5247)gaT>gaC	p.D1749D	NUP98_ENST00000355260.3_Silent_p.D1675D|NUP98_ENST00000359171.4_3'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1766					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CGGAGGTTCTATCAGGAGGAT	0.567			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								12	89					0	0	0	0	G	3697545	A	G	3697545	2	3	258	1	0	0	0	0	0	0	0	1	10844	446	16	5		5	NUP98	11	3697545	Silent	SNP	A	TCGA-CV-6943-01A-11D-1912-08		3697545	131308971	35	46238											
KAT5	10524	broad.mit.edu	37	chr11	65482118	65482118	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaagccgtggtacttctcCccgtacccacaggaactcac	9	8	7	17	2	3	0	2	0	1	0	4	1	3	1	4	2	4	2	4	2	4	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:65482118C>T	ENST00000341318.4	+	7	1077	c.843C>T	c.(841-843)tcC>tcT	p.S281S	KAT5_ENST00000530446.1_Silent_p.S229S|KAT5_ENST00000377046.3_Silent_p.S248S|KAT5_ENST00000352980.4_Silent_p.S196S|KAT5_ENST00000534650.1_Silent_p.S37S	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	248					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GGTACTTCTCCCCGTACCCAC	0.562													25	136					0	0	0	0	T	65482118	C	T	65482118	2	4	258	1	0	0	0	0	0	0	0	1	8036	610	22	4		4	KAT5	11	65482118	Silent	SNP	C	TCGA-CV-6943-01A-11D-1912-08	61784573	65482118	69524398	36	46239											
MED17	9440	broad.mit.edu	37	chr11	93528169	93528169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcgggaagctgttcaaattAaatcacaagtccctcacatt	13	11	6	11	1	3	0	3	0	0	0	5	1	4	1	1	1	1	2	1	1	5	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:93528169A>G	ENST00000251871.3	+	6	1242	c.955A>G	c.(955-957)Aaa>Gaa	p.K319E	MED17_ENST00000533367.1_Intron	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	319					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGTTCAAATTAAATCACAAGT	0.418													4	114					0	0	0	0	G	93528169	A	G	93528169	3	3	258	1	0	0	0	0	1	0	0	0	9504	363	13	5	977	5	MED17	11	93528169	Missense_Mutation	SNP	A	TCGA-CV-6943-01A-11D-1912-08	28046051	93528169	41478347	37	46240											
DYNC2H1	79659	broad.mit.edu	37	chr11	103062954	103062954	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattttaacatcagtgtttCaaggagattggggctcagac	11	13	10	7	0	4	2	4	0	0	2	4	3	4	2	0	3	1	2	0	3	2	4			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:103062954C>G	ENST00000375735.2	+	47	7813	c.7669C>G	c.(7669-7671)Caa>Gaa	p.Q2557E	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q2557E	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2557					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATCAGTGTTTCAAGGAGATTG	0.338													4	24					0	0	0	0	G	103062954	C	G	103062954	3	3	258	1	0	0	0	0	1	0	0	0	4882	827	29	2	7855	2	DYNC2H1	11	103062954	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	9534785	103062954	31943562	38	46241											
PLEKHA5	54477	broad.mit.edu	37	chr12	19282753	19282753	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcggcggatctgaaccTggagtggatctccctgcccc	6	8	13	14	2	2	1	0	1	2	0	3	4	2	4	4	5	2	0	4	5	1	0			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:19282753T>G	ENST00000538714.1	+	1	24	c.20T>G	c.(19-21)cTg>cGg	p.L7R	PLEKHA5_ENST00000299275.6_Missense_Mutation_p.L7R|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.L7R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.L7R|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.L7R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.L7R|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.L7R|PLEKHA5_ENST00000540972.1_Missense_Mutation_p.L7R	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	7							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GATCTGAACCTGGAGTGGATC	0.692													3	21					0	0	0	0	G	19282753	T	G	19282753	3	3	258	1	0	0	0	0	1	0	0	0	12131	1580	55	5	22	5	PLEKHA5	12	19282753	Missense_Mutation	SNP	T	TCGA-CV-6943-01A-11D-1912-08		19282753	114569142	39	46242											
RAPGEF3	10411	broad.mit.edu	37	chr12	48143717	48143717	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgctggacttacacacGgtccctgccttgctgtgtgg	4	11	12	14	1	0	0	0	0	0	0	1	1	1	1	3	3	4	2	3	3	1	2			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:48143717G>A	ENST00000405493.2	-	8	896	c.687C>T	c.(685-687)acC>acT	p.T229T	RAPGEF3_ENST00000449771.2_Silent_p.T271T|RAPGEF3_ENST00000171000.4_Silent_p.T229T|RAPGEF3_ENST00000395358.3_Silent_p.T271T|RAPGEF3_ENST00000389212.3_Silent_p.T271T|RAPGEF3_ENST00000549151.1_Silent_p.T229T|RAPGEF3_ENST00000548919.1_Silent_p.T229T	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	229					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ACTTACACACGGTCCCTGCCT	0.567													23	301					0	0	0	0	A	48143717	G	A	48143717	2	1	258	1	0	0	0	0	0	0	0	1	13127	1103	39	1		1	RAPGEF3	12	48143717	Silent	SNP	G	TCGA-CV-6943-01A-11D-1912-08	28860964	48143717	85708178	40	46243											
SRGAP1	57522	broad.mit.edu	37	chr12	64502717	64502717	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttctgtctgtaggaataGataatctctatgagagggcg	11	13	11	6	1	4	2	0	1	4	2	5	4	4	3	0	2	0	1	0	2	5	5			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:64502717G>C	ENST00000355086.3	+	16	2343	c.1819G>C	c.(1819-1821)Gat>Cat	p.D607H	SRGAP1_ENST00000543397.1_Missense_Mutation_p.D544H|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D584H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	607	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGTAGGAATAGATAATCTCTA	0.443													12	89					0	0	0	0	C	64502717	G	C	64502717	3	2	258	1	0	0	0	0	1	0	0	0	15235	942	33	2	1881	2	SRGAP1	12	64502717	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	16359000	64502717	69349178	41	46244											
MYBPC1	4604	broad.mit.edu	37	chr12	102067320	102067320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttattagaaaagcagagaGgagccactctgggaaatatg	16	9	11	5	0	1	2	0	0	1	2	1	5	1	4	1	2	2	1	1	2	6	4			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:102067320G>A	ENST00000549145.1	+	25	2847	c.2747G>A	c.(2746-2748)aGg>aAg	p.R916K	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R871K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R903K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R910K|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R903K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R885K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R903K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R786K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R910K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R866K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R872K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R885K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R859K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R873K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R903K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	903	Ig-like C2-type 6.				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						AAAGCAGAGAGGAGCCACTCT	0.388													44	187					0	0	0	0	A	102067320	G	A	102067320	3	1	258	1	0	0	0	0	1	0	0	0	10081	1000	35	4	2885	4	MYBPC1	12	102067320	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	37564603	102067320	31784575	42	46245											
TCHP	84260	broad.mit.edu	37	chr12	110345367	110345367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaagagaacaaacggtatGaaaatgaatatgaaagggcc	20	5	11	5	1	0	4	0	3	0	1	0	5	0	4	1	2	3	2	1	2	9	2			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:110345367G>A	ENST00000312777.5	+	6	776	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	TCHP_ENST00000405876.4_Missense_Mutation_p.E188K	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	188	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CAAACGGTATGAAAATGAATA	0.507													8	104					0	0	0	0	A	110345367	G	A	110345367	3	1	258	1	0	0	0	0	1	0	0	0	15796	1291	45	2	580	2	TCHP	12	110345367	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	8278047	110345367	23506528	43	46246			1	68		2	2	13	N	G_-	2.790953e-05
TCHP	84260	broad.mit.edu	37	chr12	110345379	110345380	+	Frame_Shift_Ins	INS	-	-	A																															acggtatgaaaatgaatatgINSaaagggcccgaagggaggcg																										TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:110345379_110345380insA	ENST00000312777.5	+	6	788_789	c.574_575insA	c.(574-576)aagfs	p.K192fs	TCHP_ENST00000405876.4_Frame_Shift_Ins_p.K192fs	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	192	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						AAATGAATATGAAAGGGCCCGA	0.51													8	103	---	---	---	---					A	110345380	-	A	110345379	7	5	258	1	0	1	1	0	0	0	0	0	15796	1291	45	0	592	0	TCHP	12	110345379	Frame_Shift_Ins	INS	-	TCGA-CV-6943-01A-11D-1912-08	12	110345379	23506516	44	46247			1	68		2	2	13	N	G_-	2.790953e-05
TCTN2	79867	broad.mit.edu	37	chr12	124172678	124172678	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agactttggttacaaacaagGagatcccattatgactgtaa	15	11	8	7	0	0	3	0	1	0	2	1	4	1	3	1	2	2	2	1	2	5	4			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:124172678G>C	ENST00000303372.5	+	7	973	c.845G>C	c.(844-846)gGa>gCa	p.G282A	TCTN2_ENST00000426174.2_Missense_Mutation_p.G281A	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	282					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TACAAACAAGGAGATCCCATT	0.353													14	102					0	0	0	0	C	124172678	G	C	124172678	3	2	258	1	0	0	0	0	1	0	0	0	15817	1174	41	2	871	2	TCTN2	12	124172678	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	13827299	124172678	9679217	45	46248											
FLT3	2322	broad.mit.edu	37	chr13	28578200	28578200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgttcctctacgaatcttCgacctgagcctgcggagaga	9	11	10	11	3	2	2	0	1	2	1	4	6	3	3	3	1	3	1	3	1	2	4			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr13:28578200C>T	ENST00000380982.4	-	24	3061	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	FLT3_ENST00000537084.1_Missense_Mutation_p.E950K|FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000241453.7_Missense_Mutation_p.E991K			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	991					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TACGAATCTTCGACCTGAGCC	0.453			"Mis, O"		"AML, ALL"								7	38					0	0	0	0	T	28578200	C	T	28578200	3	4	258	1	0	0	0	0	1	0	0	0	5987	893	31	1	14	1	FLT3	13	28578200	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08		28578200	86591678	46	46249											
TRIM13	10206	broad.mit.edu	37	chr13	50586806	50586806	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctttcaaagatgtgtcaGaacccattgtatttctgcaa	12	13	8	8	0	3	2	2	0	1	2	3	2	3	2	1	1	2	3	1	1	4	4			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr13:50586806G>C	ENST00000378182.3	+	2	1468	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	TRIM13_ENST00000457662.2_Missense_Mutation_p.E244Q|TRIM13_ENST00000298772.5_Missense_Mutation_p.E247Q|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000420995.2_Missense_Mutation_p.E244Q|TRIM13_ENST00000356017.4_Missense_Mutation_p.E247Q	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	244					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AGATGTGTCAGAACCCATTGT	0.423													4	53					0	0	0	0	C	50586806	G	C	50586806	3	2	258	1	0	0	0	0	1	0	0	0	16583	943	33	2	745	2	TRIM13	13	50586806	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	22008606	50586806	64583072	47	46250											
OR4N2	390429	broad.mit.edu	37	chr14	20296393	20296393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatctacacgcgccccttCagggctttcccagctgacaa	8	10	7	16	2	3	1	2	1	1	0	4	1	4	1	3	1	2	2	3	1	2	4			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr14:20296393C>T	ENST00000315947.1	+	1	786	c.786C>T	c.(784-786)ttC>ttT	p.F262F	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	262					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)		CGCGCCCCTTCAGGGCTTTCC	0.458													15	93					0	0	0	0	T	20296393	C	T	20296393	2	4	258	1	0	0	0	0	0	0	0	1	11148	825	29	2		2	OR4N2	14	20296393	Silent	SNP	C	TCGA-CV-6943-01A-11D-1912-08		20296393	87053147	48	46251											
PRKD1	5587	broad.mit.edu	37	chr14	30107997	30107997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtggatgacaaatgtgtgCggcactttaactttagacat	12	12	11	6	1	0	2	0	1	0	1	0	4	0	3	0	2	2	1	0	2	3	4	rs144272752	byFrequency	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr14:30107997C>T	ENST00000331968.5	-	5	1039	c.810G>A	c.(808-810)ccG>ccA	p.P270P	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Silent_p.P278P	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	270					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAAATGTGTGCGGCACTTTAA	0.468													8	44					0	0	0	0	T	30107997	C	T	30107997	2	4	258	1	0	0	0	0	0	0	0	1	12598	755	27	1		1	PRKD1	14	30107997	Silent	SNP	C	TCGA-CV-6943-01A-11D-1912-08	9811604	30107997	77241543	49	46252											
MKRN3	7681	broad.mit.edu	37	chr15	23811808	23811808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcctgcattgaagcacaCgagaaagatatggaactctc	14	7	11	9	1	1	3	0	1	1	2	2	5	1	4	1	2	3	2	1	2	4	2			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr15:23811808C>G	ENST00000314520.3	+	1	1355	c.879C>G	c.(877-879)caC>caG	p.H293Q	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	293	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTGAAGCACACGAGAAAGATA	0.532													3	38					0	0	0	0	G	23811808	C	G	23811808	3	3	258	1	0	0	0	0	1	0	0	0	9677	535	19	3	881	3	MKRN3	15	23811808	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08		23811808	78719584	50	46253											
GLYR1	84656	broad.mit.edu	37	chr16	4861236	4861236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccagcgcaatggctaagcGgagatccttctgaatgtatt	11	10	10	10	2	1	2	0	1	1	1	2	3	2	2	2	2	2	3	2	2	4	4			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:4861236G>T	ENST00000321919.9	-	15	1598	c.1522C>A	c.(1522-1524)Cgc>Agc	p.R508S	GLYR1_ENST00000591451.1_Missense_Mutation_p.R502S|GLYR1_ENST00000381983.3_Missense_Mutation_p.R491S|GLYR1_ENST00000436648.5_Missense_Mutation_p.R427S	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	508					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						ATGGCTAAGCGGAGATCCTTC	0.507													14	130					1.99824e-07	1.2342e-06	1	0	T	4861236	G	T	4861236	3	4	258	1	0	0	0	0	1	0	0	0	6534	1116	39	3	147	3	GLYR1	16	4861236	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08		4861236	85493517	51	46254											
MYH11	4629	broad.mit.edu	37	chr16	15826519	15826519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatgggaccgcgtctcttCatccagggccttcttcagca	6	11	9	15	2	5	0	3	0	2	0	7	1	6	1	3	2	1	1	3	2	0	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:15826519C>T	ENST00000338282.6	-	27	3659	c.3553G>A	c.(3553-3555)Gaa>Aaa	p.E1185K	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000300036.5_Missense_Mutation_p.E1185K|MYH11_ENST00000452625.2_Missense_Mutation_p.E1192K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1192K|MYH11_ENST00000576790.1_Missense_Mutation_p.E1185K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1185					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCGTCTCTTCATCCAGGGCC	0.592			T	CBFB	AML								10	108					0	0	0	0	T	15826519	C	T	15826519	3	4	258	1	0	0	0	0	1	0	0	0	10101	835	29	2	2460	2	MYH11	16	15826519	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	10965283	15826519	74528234	52	46255											
SRCAP	10847	broad.mit.edu	37	chr16	30721369	30721369	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagggccttccagcccctctCaaaccccctcatctcatgat	9	9	5	18	0	3	1	3	1	2	0	6	1	4	1	6	1	2	0	6	1	2	1			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:30721369C>G	ENST00000262518.4	+	8	1439	c.1054C>G	c.(1054-1056)Caa>Gaa	p.Q352E	SRCAP_ENST00000395059.2_Missense_Mutation_p.Q352E|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q352E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	352	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGCCCCTCTCAAACCCCCTC	0.577													4	29					0	0	0	0	G	30721369	C	G	30721369	3	3	258	1	0	0	0	0	1	0	0	0	15225	827	29	2	1076	2	SRCAP	16	30721369	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	14894850	30721369	59633384	53	46256											
GAS8	2622	broad.mit.edu	37	chr16	90097737	90097737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgtcagccgcatccgggagGagctggaccgcgagcgggag	8	4	18	11	5	1	0	1	0	0	0	2	5	2	4	3	4	3	2	3	4	0	0			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:90097737G>C	ENST00000268699.4	+	3	243	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	GAS8_ENST00000536122.1_Missense_Mutation_p.E16Q|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	41	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		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;0.029)		CATCCGGGAGGAGCTGGACCG	0.647													3	51					0	0	0	0	C	90097737	G	C	90097737	3	2	258	1	0	0	0	0	1	0	0	0	6300	1175	41	2	131	2	GAS8	16	90097737	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	59376368	90097737	257016	54	46257											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	60					0	0	0	0	A	7577539	G	A	7577539	3	1	258	1	0	0	0	0	1	0	0	0	16476	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08		7577539	73617671	55	46258											
KIAA0100	9703	broad.mit.edu	37	chr17	26962166	26962166	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaggagccaaacacggttCcggagggtctgcagcgcagg	10	4	17	10	3	1	1	0	0	1	1	2	4	2	3	2	5	4	3	2	5	1	1			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:26962166C>A	ENST00000528896.2	-	16	2513	c.2439G>T	c.(2437-2439)cgG>cgT	p.R813R	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.R670R|KIAA0100_ENST00000544884.1_Silent_p.R670R	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	813						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAACACGGTTCCGGAGGGTCT	0.527													15	144					1.52009e-12	9.50057e-12	1	0	A	26962166	C	A	26962166	2	1	258	1	0	0	0	0	0	0	0	1	8205	842	30	2		2	KIAA0100	17	26962166	Silent	SNP	C	TCGA-CV-6943-01A-11D-1912-08	19384627	26962166	54233044	56	46259											
SLFN11	91607	broad.mit.edu	37	chr17	33680115	33680115	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgtgttcaaagttttctcTtaggaaagttttccgggtct	9	17	9	6	1	3	0	1	0	2	0	5	1	4	1	1	2	0	3	1	2	4	6			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:33680115T>A	ENST00000394566.1	-	7	2238	c.1966A>T	c.(1966-1968)Aga>Tga	p.R656*	SLFN11_ENST00000308377.4_Nonsense_Mutation_p.R656*	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	656						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGTTTTCTCTTAGGAAAGTT	0.398													11	101					0	0	0	0	A	33680115	T	A	33680115	4	1	258	1	0	0	0	0	0	1	0	0	14821	1617	56	5	743	5	SLFN11	17	33680115	Nonsense_Mutation	SNP	T	TCGA-CV-6943-01A-11D-1912-08	6717949	33680115	47515095	57	46260											
DDX52	11056	broad.mit.edu	37	chr17	36002253	36002253	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgtgatgctccacacaCacctgggacagacttcttgt	8	13	9	11	0	1	2	0	1	1	1	2	3	2	3	2	1	1	2	2	1	0	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:36002253C>T	ENST00000394367.3	-	0	209				DDX52_ENST00000349699.2_Missense_Mutation_p.V58M			Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GCTCCACACACACCTGGGACA	0.413													12	76					0	0	0	0	T	36002253	C	T	36002253	1	4	258	1	0	0	0	0	0	0	0	0	4402	478	17	4		4	DDX52	17	36002253	Translation_Start_Site	SNP	C	TCGA-CV-6943-01A-11D-1912-08	2322138	36002253	45192957	58	46261											
KIF18B	146909	broad.mit.edu	37	chr17	43005428	43005428	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggtccagcctgctcagctCctggggtattttgtcccagc	4	12	11	14	0	1	0	1	0	0	0	4	0	4	0	4	3	4	3	4	3	1	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:43005428C>G	ENST00000587309.1	-	13	2301	c.2278G>C	c.(2278-2280)Gag>Cag	p.E760Q	KIF18B_ENST00000438933.2_Missense_Mutation_p.E760Q|KIF18B_ENST00000339151.4_Missense_Mutation_p.E751Q|KIF18B_ENST00000590129.1_Missense_Mutation_p.E769Q|KIF18B_ENST00000593135.1_Missense_Mutation_p.E748Q	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTGCTCAGCTCCTGGGGTATT	0.577													3	32					0	0	0	0	G	43005428	C	G	43005428	3	3	258	1	0	0	0	0	1	0	0	0	8332	864	30	2	331	2	KIF18B	17	43005428	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	7003175	43005428	38189782	59	46262											
TMC8	147138	broad.mit.edu	37	chr17	76128900	76128900	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtagccgccagtccccGcctggcgttttgaggttcca	4	10	12	15	3	0	1	0	1	0	0	2	1	2	1	7	3	1	3	7	3	1	4	rs150261314		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:76128900G>T	ENST00000318430.5	+	5	854	c.480G>T	c.(478-480)ccG>ccT	p.P160P	TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	160						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCCAGTCCCCGCCTGGCGTTT	0.597													6	102					0.000157383	0.000907981	1	0	T	76128900	G	T	76128900	2	4	258	1	0	0	0	0	0	0	0	1	16085	1074	38	3		3	TMC8	17	76128900	Silent	SNP	G	TCGA-CV-6943-01A-11D-1912-08	33123472	76128900	5066310	60	46263											
KLF1	10661	broad.mit.edu	37	chr19	12997871	12997871	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccttctaggccccaccttGaggaagtcatcctgtgtgtc	7	11	9	14	0	2	1	1	1	1	0	4	2	3	2	5	2	0	0	5	2	2	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:12997871G>A	ENST00000264834.4	-	1	124	c.84C>T	c.(82-84)ctC>ctT	p.L28L		NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	28	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCACCTTGAGGAAGTCAT	0.622													7	59					0	0	0	0	A	12997871	G	A	12997871	2	1	258	1	0	0	0	0	0	0	0	1	8389	1277	45	2		2	KLF1	19	12997871	Silent	SNP	G	TCGA-CV-6943-01A-11D-1912-08		12997871	46131112	61	46264											
UQCRFS1	7386	broad.mit.edu	37	chr19	29698963	29698963	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctttcctagcctcgctgCtttctcttgaagacttcgta	7	15	6	13	2	1	2	0	1	1	1	5	2	2	2	3	0	3	3	3	0	4	6			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:29698963C>G	ENST00000304863.4	-	2	739	c.317G>C	c.(316-318)aGc>aCc	p.S106T		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	106					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			AGCCTCGCTGCTTTCTCTTGA	0.478													3	115					0	0	0	0	G	29698963	C	G	29698963	3	3	258	1	0	0	0	0	1	0	0	0	17117	797	28	4	511	4	UQCRFS1	19	29698963	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	16701092	29698963	29430020	62	46265											
LSR	51599	broad.mit.edu	37	chr19	35757786	35757811	+	Frame_Shift_Del	DEL	ATGCGGGTCCTGTACTACATGGAGAA	ATGCGGGTCCTGTACTACATGGAGAA	-																															ccagccagcaggacgactccAtgcgggtcctgtactacatg																								rs35205867	byFrequency	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr19:35757786_35757811delATGCGGGTCCTGTACTACATGGAGAA	ENST00000602122.1	+	7	1631_1656	c.1144_1169delATGCGGGTCCTGTACTACATGGAGAA	c.(1144-1170)gfs	p.MRVLYYMEK382fs	LSR_ENST00000347609.4_Frame_Shift_Del_p.MRVLYYMEK344fs|LSR_ENST00000361790.3_Frame_Shift_Del_p.MRVLYYMEK402fs|LSR_ENST00000427250.1_Frame_Shift_Del_p.MRVLYYMEK246fs|LSR_ENST00000360798.3_Frame_Shift_Del_p.MRVLYYMEK334fs|LSR_ENST00000354900.3_Frame_Shift_Del_p.MRVLYYMEK383fs			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	402					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGACGACTCCATGCGGGTCCTGTACTACATGGAGAAGGAGCTGGCC	0.637													14	21	---	---	---	---					-	35757811	ATGCGGGTCCTGTACTACATGGAGAA	-	35757786	7	5	258	1	0	1	0	1	0	0	0	0	9128	217	8	0	1234	0	LSR	19	35757786	Frame_Shift_Del	DEL	ATGCGGGTCCTGTACTACATGGAGAA	TCGA-CV-6943-01A-11D-1912-08	6058823	35757786	23371197	63	46266											
YIF1B	90522	broad.mit.edu	37	chr19	38799436	38799436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccaggcctcccttacctatCctgggtccccagcgcaagac	7	7	8	19	1	0	1	0	0	0	1	3	1	3	1	7	2	2	1	7	2	3	2			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:38799436C>T	ENST00000392124.3	-	4	756	c.442G>A	c.(442-444)Gat>Aat	p.D148N	YIF1B_ENST00000592246.1_Missense_Mutation_p.D113N|YIF1B_ENST00000592694.1_Missense_Mutation_p.D148N|YIF1B_ENST00000591784.1_Missense_Mutation_p.D148N|YIF1B_ENST00000329420.8_Missense_Mutation_p.D164N|YIF1B_ENST00000591755.1_Missense_Mutation_p.D176N|YIF1B_ENST00000339413.6_Missense_Mutation_p.D179N|YIF1B_ENST00000337679.8_Missense_Mutation_p.D176N	NM_033557.3	NP_291035.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	179						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTTACCTATCCTGGGTCCCC	0.567													9	248					0	0	0	0	T	38799436	C	T	38799436	3	4	258	1	0	0	0	0	1	0	0	0	17572	855	30	2	506	2	YIF1B	19	38799436	Missense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	3041650	38799436	20329547	64	46267											
GLTSCR2	29997	broad.mit.edu	37	chr19	48253511	48253511	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cttcgggttgacctcatcctCgagaacacatccaaagtccc	10	9	7	15	2	1	2	1	1	0	1	6	3	4	2	4	1	1	1	4	1	2	2	rs148201586		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:48253511C>G	ENST00000246802.5	+	3	404	c.366C>G	c.(364-366)ctC>ctG	p.L122L	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	122						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACCTCATCCTCGAGAACACAT	0.522													3	50					0	0	0	0	G	48253511	C	G	48253511	2	3	258	1	0	0	0	0	0	0	0	1	6526	871	31	3		3	GLTSCR2	19	48253511	Silent	SNP	C	TCGA-CV-6943-01A-11D-1912-08	9454075	48253511	10875472	65	46268											
TSEN34	79042	broad.mit.edu	37	chr19	54695773	54695773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaggctgccaaagaggatGagaccagtgatggccaggct	11	5	15	10	0	0	3	0	2	0	2	0	5	0	4	4	4	1	2	4	4	1	0			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:54695773G>A	ENST00000396383.1	+	3	756	c.445G>A	c.(445-447)Gag>Aag	p.E149K	TSEN34_ENST00000302937.4_Missense_Mutation_p.E149K|TSEN34_ENST00000429671.2_Missense_Mutation_p.E149K|TSEN34_ENST00000396388.2_Missense_Mutation_p.E149K			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	149					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAAAGAGGATGAGACCAGTGA	0.597													16	69					0	0	0	0	A	54695773	G	A	54695773	3	1	258	1	0	0	0	0	1	0	0	0	16708	1291	45	2	451	2	TSEN34	19	54695773	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08	6442262	54695773	4433210	66	46269											
BAGE2	85319	broad.mit.edu	37	chr21	11085917	11085919	+	RNA	DEL	ACT	ACT	-																															ccaccatcaccaccatcaccActaccaccaccaccaccacc																								rs36163140	by1000genomes	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	8cf9a8ac-789d-4269-9bb5-0a85488cdf63	g.chr21:11085917_11085919delACT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccatcaccactaccaccacca	0.557													2	4	---	---	---	---					-	11085919	ACT	-	11085917	6	5	258	0	1	1	0	1	0	0	0	0	1296	174	6	0		0	BAGE2	21	11085917	RNA	DEL	ACT	TCGA-CV-6943-01A-11D-1912-08		11085917	37043978	67	46270											
EP300	2033	broad.mit.edu	37	chr22	41513521	41513521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catggggatgggcactagtgGaccaaatcagggtcctacgc	10	7	14	10	1	1	0	1	0	0	0	2	2	2	2	2	5	1	1	2	5	3	2			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr22:41513521G>T	ENST00000263253.7	+	2	1644	c.425G>T	c.(424-426)gGa>gTa	p.G142V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	142					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCACTAGTGGACCAAATCAG	0.493			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				6	40					5.9392e-07	3.62567e-06	1	0	T	41513521	G	T	41513521	3	4	258	1	0	0	0	0	1	0	0	0	5186	1174	41	2	431	2	EP300	22	41513521	Missense_Mutation	SNP	G	TCGA-CV-6943-01A-11D-1912-08		41513521	9791045	68	46271											
PKDREJ	10343	broad.mit.edu	37	chr22	46656522	46656522	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgtagaaatgggaccatTtgcagacagaccaggaacac	15	7	10	9	0	0	3	0	0	0	3	0	5	0	5	2	2	2	2	2	2	3	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr22:46656522T>C	ENST00000253255.5	-	1	2697	c.2698A>G	c.(2698-2700)Aat>Gat	p.N900D		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	900	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATGGGACCATTTGCAGACAGA	0.403													12	91					0	0	0	0	C	46656522	T	C	46656522	3	2	258	1	0	0	0	0	1	0	0	0	12042	1841	64	5	4067	5	PKDREJ	22	46656522	Missense_Mutation	SNP	T	TCGA-CV-6943-01A-11D-1912-08	5143001	46656522	4648044	69	46272											
OFD1	8481	broad.mit.edu	37	chrX	13762639	13762639	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttaacagagattctctggGtaattatagccttctttctt	10	18	6	7	0	3	1	0	0	3	1	4	2	3	1	1	1	2	1	1	1	4	9			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:13762639G>T	ENST00000380567.1	+	7	969		c.e7+1		OFD1_ENST00000398395.3_Splice_Site|OFD1_ENST00000340096.6_Splice_Site|OFD1_ENST00000380550.3_Splice_Site|OFD1_ENST00000490265.1_Splice_Site			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1						cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GATTCTCTGGGTAATTATAGC	0.323													3	11					6.4e-05	0.000377528	1	0	T	13762639	G	T	13762639	5	4	258	1	0	0	0	0	0	0	1	0	10909	1275	44	4	540	4	OFD1	23	13762639	Splice_Site	SNP	G	TCGA-CV-6943-01A-11D-1912-08		13762639	141507921	70	46273											
TAF7L	54457	broad.mit.edu	37	chrX	100524182	100524182	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacgccaatggctctcctCacttcttcagaaaacgctgc	9	9	7	16	2	4	1	2	0	2	1	5	1	4	1	3	1	2	2	3	1	3	2			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:100524182C>T	ENST00000372907.3	-	13	1399	c.1388G>A	c.(1387-1389)tGa>tAa	p.*463*	TAF7L_ENST00000324762.6_Silent_p.*303*|TAF7L_ENST00000356784.1_Silent_p.*377*|TAF7L_ENST00000372905.2_Silent_p.*303*	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	0					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGGCTCTCCTCACTTCTTCAG	0.448													16	76					0	0	0	0	T	100524182	C	T	100524182	2	4	258	1	0	0	0	0	0	0	0	1	15624	837	29	2		2	TAF7L	23	100524182	Silent	SNP	C	TCGA-CV-6943-01A-11D-1912-08	86761543	100524182	54746378	71	46274											
RGAG1	57529	broad.mit.edu	37	chrX	109694739	109694739	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggaatacctaccccgctCatgtcagatctagactctgg	9	9	11	12	1	4	2	2	0	2	2	4	3	4	3	3	3	2	1	3	3	4	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:109694739C>G	ENST00000465301.2	+	3	1140	c.894C>G	c.(892-894)ctC>ctG	p.L298L	RGAG1_ENST00000540313.1_Silent_p.L298L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	298										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTACCCCGCTCATGTCAGATC	0.488													3	115					0	0	0	0	G	109694739	C	G	109694739	2	3	258	1	0	0	0	0	0	0	0	1	13356	813	29	2		2	RGAG1	23	109694739	Silent	SNP	C	TCGA-CV-6943-01A-11D-1912-08	9170557	109694739	45575821	72	46275											
CNGA2	1260	broad.mit.edu	37	chrX	150911102	150911102	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgcggacctcttcatcCgattgcgcacaggtcagtga	9	10	10	12	3	3	1	2	1	1	0	4	3	4	2	2	2	2	1	2	2	0	3			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:150911102C>T	ENST00000329903.4	+	5	610	c.577C>T	c.(577-579)Cga>Tga	p.R193*		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	193					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTTCATCCGATTGCGCAC	0.512													20	57					0	0	0	0	T	150911102	C	T	150911102	4	4	258	1	0	0	0	0	0	1	0	0	3627	644	23	1	595	1	CNGA2	23	150911102	Nonsense_Mutation	SNP	C	TCGA-CV-6943-01A-11D-1912-08	41216363	150911102	4359458	73	46276											
PLEKHM2	23207	broad.mit.edu	37	chr1	16051962	16051962	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctgacaccacccccgTgcacaccacctctcaggaga	9	6	6	20	1	2	2	1	1	2	1	4	3	3	2	6	1	1	1	6	1	0	0			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:16051962T>C	ENST00000375799.3	+	8	1090	c.863T>C	c.(862-864)gTg>gCg	p.V288A	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.V268A|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	288	Interaction with KIF5B.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACCACCCCCGTGCACACCACC	0.672													2	5					0	0	0	0	C	16051962	T	C	16051962	3	2	259	1	0	0	0	0	1	0	0	0	12153	1696	59	5	893	5	PLEKHM2	1	16051962	Missense_Mutation	SNP	T	TCGA-CV-6945-01A-11D-1912-08		16051962	233198659	1	46277											
RAP1GAP	5909	broad.mit.edu	37	chr1	21940122	21940122	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcggagcggagacctcaccTttgccatctggacaacatta	11	8	10	12	2	2	1	1	0	1	1	2	4	2	3	3	3	4	0	3	3	2	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:21940122T>A	ENST00000542643.2	-	10	775	c.474_splice	c.e10+1	p.K158_splice	RAP1GAP_ENST00000374761.2_Splice_Site_p.K189_splice|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374765.4_Splice_Site_p.K158_splice|RAP1GAP_ENST00000374763.2_Splice_Site_p.K158_splice|RAP1GAP_ENST00000290101.4_Splice_Site_p.K222_splice	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	158					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGACCTCACCTTTGCCATCTG	0.597													27	102					0	0	0	0	A	21940122	T	A	21940122	5	1	259	1	0	0	0	0	0	0	1	0	13119	1623	56	5	1664	5	RAP1GAP	1	21940122	Splice_Site	SNP	T	TCGA-CV-6945-01A-11D-1912-08	5888160	21940122	227310499	2	46278											
NRD1	4898	broad.mit.edu	37	chr1	52305985	52305985	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatcaagatcatcatcatgTtcatcatcaaactcatcttc	13	14	3	11	0	9	1	8	0	1	1	10	1	9	1	0	0	1	2	0	0	3	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:52305985T>C	ENST00000354831.7	-	2	732	c.543A>G	c.(541-543)gaA>gaG	p.E181E	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.E181E|NRD1_ENST00000544028.1_Silent_p.E49E|NRD1_ENST00000539524.1_Silent_p.E49E	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	178	Asp/Glu-rich (highly acidic).				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						catcatcatgttcatcatcaa	0.373													6	15					0	0	0	0	C	52305985	T	C	52305985	2	2	259	1	0	0	0	0	0	0	0	1	10716	1722	60	5		5	NRD1	1	52305985	Silent	SNP	T	TCGA-CV-6945-01A-11D-1912-08	30365863	52305985	196944636	3	46279											
BARHL2	343472	broad.mit.edu	37	chr1	91182551	91182551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgggggctccatggtgaCtgagataggagaagaaggcg	10	6	17	8	2	0	4	0	2	0	3	2	6	2	4	2	5	0	1	2	5	3	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:91182551C>A	ENST00000370445.4	-	1	243	c.202G>T	c.(202-204)Gtc>Ttc	p.V68F		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	68						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TCCATGGTGACTGAGATAGGA	0.662													5	52					0.000602214	0.00136502	1	0	A	91182551	C	A	91182551	3	1	259	1	0	0	0	0	1	0	0	0	1318	565	20	4	973	4	BARHL2	1	91182551	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	38876566	91182551	158068070	4	46280											
ZNF644	84146	broad.mit.edu	37	chr1	91404033	91404033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacacgatttcttctcaaGagacaaatcagtccaatgaa	16	9	7	9	1	3	2	2	1	2	1	5	5	4	3	1	1	0	0	1	1	4	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:91404033G>A	ENST00000370440.1	-	3	3095	c.2878C>T	c.(2878-2880)Ctt>Ttt	p.L960F	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.L960F			Q9H582	ZN644_HUMAN	zinc finger protein 644	960					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTCTTCTCAAGAGACAAATCA	0.398													13	47					0	0	0	0	A	91404033	G	A	91404033	3	1	259	1	0	0	0	0	1	0	0	0	18155	942	33	2	1121	2	ZNF644	1	91404033	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	221482	91404033	157846588	5	46281											
AMY2B	280	broad.mit.edu	37	chr1	104115830	104115830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatgggattttaatgatgGtaaatgtaaaactggaagtg	14	13	13	1	0	0	1	0	1	0	0	0	4	0	4	0	4	1	2	0	4	6	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:104115830G>C	ENST00000361355.4	+	5	1077	c.461G>C	c.(460-462)gGt>gCt	p.G154A	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	154					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTTAATGATGGTAAATGTAAA	0.408													64	542					0	0	0	0	C	104115830	G	C	104115830	3	2	259	1	0	0	0	0	1	0	0	0	595	1261	44	4	471	4	AMY2B	1	104115830	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	12711797	104115830	145134791	6	46282											
GJA8	2703	broad.mit.edu	37	chr1	147381094	147381094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagggcgaggggccgcctGcagaggagggagccgaaccc	8	2	20	11	3	0	1	0	0	0	1	0	6	0	4	4	6	3	1	4	6	1	0			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:147381094G>A	ENST00000240986.4	+	2	1065	c.1012G>A	c.(1012-1014)Gca>Aca	p.A338T	GJA8_ENST00000369235.1_Missense_Mutation_p.A338T	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	338					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGGCCGCCTGCAGAGGAGGG	0.657													4	5					0	0	0	0	A	147381094	G	A	147381094	3	1	259	1	0	0	0	0	1	0	0	0	6456	1319	46	4	1014	4	GJA8	1	147381094	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	43265264	147381094	101869527	7	46283											
IQGAP3	128239	broad.mit.edu	37	chr1	156518471	156518471	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccactgcggggttcctcAacacccgctcagtctgggct	5	8	13	15	2	3	0	2	0	1	0	4	0	4	0	3	4	2	3	3	4	1	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:156518471A>T	ENST00000361170.2	-	17	1905	c.1895T>A	c.(1894-1896)tTg>tAg	p.L632*		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	632					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGTTCCTCAACACCCGCTC	0.597													11	48					0	0	0	0	T	156518471	A	T	156518471	4	4	259	1	0	0	0	0	0	1	0	0	7869	131	5	5	3088	5	IQGAP3	1	156518471	Nonsense_Mutation	SNP	A	TCGA-CV-6945-01A-11D-1912-08	9137377	156518471	92732150	8	46284											
CCDC19	25790	broad.mit.edu	37	chr1	159842919	159842919	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctgtggcctttttctcCtcctccagccgctccttctc	1	14	6	20	2	2	0	0	0	2	0	7	0	5	0	7	1	1	1	7	1	0	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:159842919C>T	ENST00000426543.2	-	11	1592	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Silent_p.E464E			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	464						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCTTTTTCTCCTCCTCCAGCC	0.587													16	31					0	0	0	0	T	159842919	C	T	159842919	2	4	259	1	0	0	0	0	0	0	0	1	2821	680	24	4		4	CCDC19	1	159842919	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	3324448	159842919	89407702	9	46285											
RABIF	5877	broad.mit.edu	37	chr1	202850116	202850116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcccctcagttactcatggGaaactcgttccaaggccaca	10	9	7	15	1	2	0	2	0	0	0	5	1	4	1	4	2	2	2	4	2	3	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:202850116G>A	ENST00000367262.3	-	2	398	c.362C>T	c.(361-363)tCc>tTc	p.S121F		NM_002871.4	NP_002862.2	P47224	MSS4_HUMAN	RAB interacting factor	121					cellular membrane fusion|protein transport|small GTPase mediated signal transduction		guanyl-nucleotide exchange factor activity|zinc ion binding			large_intestine(1)|lung(2)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTACTCATGGGAAACTCGTTC	0.478													18	81					0	0	0	0	A	202850116	G	A	202850116	3	1	259	1	0	0	0	0	1	0	0	0	13051	1174	41	2	13	2	RABIF	1	202850116	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	43007197	202850116	46400505	10	46286											
KMO	8564	broad.mit.edu	37	chr1	241729888	241729888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttccagaaatactttcCggatgccatccctctaattg	9	15	5	12	1	2	1	0	0	2	1	5	2	5	2	4	1	2	0	4	1	3	6			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:241729888C>T	ENST00000366559.4	+	9	1096	c.785C>T	c.(784-786)cCg>cTg	p.P262L	KMO_ENST00000366558.3_Missense_Mutation_p.P262L|KMO_ENST00000366557.4_Missense_Mutation_p.P262L	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	262					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AAATACTTTCCGGATGCCATC	0.353													10	69					0	0	0	0	T	241729888	C	T	241729888	3	4	259	1	0	0	0	0	1	0	0	0	8476	652	23	1	819	1	KMO	1	241729888	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	38879772	241729888	7520733	11	46287											
OR2M3	127062	broad.mit.edu	37	chr1	248366497	248366497	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggccttcatgggaaactCtgtcatggttctcctcatct	7	14	9	11	0	6	0	3	0	3	0	7	1	6	1	2	3	1	1	2	3	1	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:248366497C>G	ENST00000456743.1	+	1	166	c.128C>G	c.(127-129)tCt>tGt	p.S43C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGGAAACTCTGTCATGGTT	0.547													80	210					0	0	0	0	G	248366497	C	G	248366497	3	3	259	1	0	0	0	0	1	0	0	0	11082	913	32	2	130	2	OR2M3	1	248366497	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	6636609	248366497	884124	12	46288											
OSR1	130497	broad.mit.edu	37	chr2	19553023	19553023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggacttggtgaagtggcGgccacagaacttgcagacga	11	7	15	8	2	0	3	0	1	0	2	0	5	0	4	1	4	2	2	1	4	3	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:19553023G>A	ENST00000536433.1	-	1	3654	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	OSR1_ENST00000272223.2_Missense_Mutation_p.R182C			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	182					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GTGAAGTGGCGGCCACAGAAC	0.567													40	66					0	0	0	0	A	19553023	G	A	19553023	3	1	259	1	0	0	0	0	1	0	0	0	11364	1116	39	1	264	1	OSR1	2	19553023	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08		19553023	223646350	13	46289											
OTOF	9381	broad.mit.edu	37	chr2	26682979	26682979	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcagcagcaggagcagcaAcagtttgaggagcagccagc	13	3	15	10	0	0	1	0	1	0	0	0	4	0	3	1	2	9	7	1	2	1	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:26682979A>G	ENST00000272371.2	-	46	6034	c.5908T>C	c.(5908-5910)Ttg>Ctg	p.L1970L	OTOF_ENST00000338581.6_Silent_p.L1203L|OTOF_ENST00000402415.3_Silent_p.L1280L|OTOF_ENST00000403946.3_Intron|OTOF_ENST00000339598.3_Intron	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1970	Poly-Leu.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGCAGCAACAGTTTGAGG	0.607													4	12					0	0	0	0	G	26682979	A	G	26682979	2	3	259	1	0	0	0	0	0	0	0	1	11374	40	2	5		5	OTOF	2	26682979	Silent	SNP	A	TCGA-CV-6945-01A-11D-1912-08	7129956	26682979	216516394	14	46290											
CTNNA2	1496	broad.mit.edu	37	chr2	80835424	80835424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagtgcagaatctgggagGagagctcattgtgtcagggg	11	8	17	5	0	3	3	2	0	1	3	3	5	3	4	0	4	2	2	0	4	2	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:80835424G>T	ENST00000466387.1	+	21	3135	c.2411G>T	c.(2410-2412)gGa>gTa	p.G804V	CTNNA2_ENST00000343114.3_Missense_Mutation_p.G483V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.G838V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.G804V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.G804V|CTNNA2_ENST00000540488.1_Intron|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.G804V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	804					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AATCTGGGAGGAGAGCTCATT	0.463													15	30					2.48551e-13	6.50055e-13	1	0	T	80835424	G	T	80835424	3	4	259	1	0	0	0	0	1	0	0	0	4045	1174	41	2	2265	2	CTNNA2	2	80835424	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	54152445	80835424	162363949	15	46291											
NCKAP5	344148	broad.mit.edu	37	chr2	133543010	133543010	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggttccttgcaggggctCcccaggtcagctgttttgca	4	12	14	11	0	1	0	1	0	0	0	3	0	3	0	3	5	3	6	3	5	0	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:133543010C>A	ENST00000409261.1	-	14	1747	c.1374G>T	c.(1372-1374)ggG>ggT	p.G458G	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.G458G	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	458							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCAGGGGCTCCCCAGGTCAG	0.468													8	44					1.26484e-09	3.12762e-09	1	0	A	133543010	C	A	133543010	2	1	259	1	0	0	0	0	0	0	0	1	10293	842	30	2		2	NCKAP5	2	133543010	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	52707586	133543010	109656363	16	46292											
PKP4	8502	broad.mit.edu	37	chr2	159530275	159530275	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggagcatttataaaaaggTaacctacaagaatagctctg	16	9	8	8	1	1	1	0	0	1	1	1	2	1	2	2	2	4	3	2	2	9	6			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:159530275T>G	ENST00000389757.3	+	18	3134		c.e18+2		PKP4_ENST00000389759.3_Splice_Site|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4						cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TATAAAAAGGTAACCTACAAG	0.388										HNSCC(62;0.18)			19	34					0	0	0	0	G	159530275	T	G	159530275	5	3	259	1	0	0	0	0	0	0	1	0	12059	1652	57	5	3077	5	PKP4	2	159530275	Splice_Site	SNP	T	TCGA-CV-6945-01A-11D-1912-08	25987265	159530275	83669098	17	46293											
TANK	10010	broad.mit.edu	37	chr2	162087916	162087916	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatctcgtaaacacttgtAtcaggacaactctggataga	15	10	7	9	1	3	1	1	0	2	1	4	3	3	3	0	2	2	2	0	2	6	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:162087916A>G	ENST00000392749.2	+	7	1194	c.955A>G	c.(955-957)Atc>Gtc	p.I319V	AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000259075.2_Missense_Mutation_p.I319V|TANK_ENST00000402568.1_Intron|TANK_ENST00000405852.1_Missense_Mutation_p.I319V|AC009299.2_ENST00000445372.1_RNA	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	319						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						AAACACTTGTATCAGGACAAC	0.403													19	57					0	0	0	0	G	162087916	A	G	162087916	3	3	259	1	0	0	0	0	1	0	0	0	15637	449	16	5	1010	5	TANK	2	162087916	Missense_Mutation	SNP	A	TCGA-CV-6945-01A-11D-1912-08	2557641	162087916	81111457	18	46294											
TTN	7273	broad.mit.edu	37	chr2	179428334	179428334	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaacgccttccttatctcGtttttcaagaatgtagccct	8	16	5	12	2	3	1	1	0	2	1	5	1	4	1	3	0	2	2	3	0	5	6			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:179428334G>T	ENST00000589042.1	-	326	82749	c.82525C>A	c.(82525-82527)Cga>Aga	p.R27509R	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.R25868R|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.R24941R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.R18444R|TTN_ENST00000342175.6_Silent_p.R18636R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.R18569R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25868	Fibronectin type-III 100.						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)			TCCTTATCTCGTTTTTCAAGA	0.463													43	129					1.00001e-27	2.83335e-27	1	0	T	179428334	G	T	179428334	2	4	259	1	0	0	0	0	0	0	0	1	16831	1153	40	3		3	TTN	2	179428334	Silent	SNP	G	TCGA-CV-6945-01A-11D-1912-08	17340418	179428334	63771039	19	46295											
TTN	7273	broad.mit.edu	37	chr2	179612977	179612977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggatttaagagaaagatcaGtttttaaaatgtctaagttt	16	15	8	2	0	2	2	1	0	1	2	2	4	2	3	0	1	0	2	0	1	5	7			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:179612977G>A	ENST00000360870.5	-	46	14372	c.14150C>T	c.(14149-14151)aCt>aTt	p.T4717I	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	826	Ig-like 27.						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)			AGAAAGATCAGTTTTTAAAAT	0.328													12	53					0	0	0	0	A	179612977	G	A	179612977	3	1	259	1	0	0	0	0	1	0	0	0	16831	1029	36	4	96147	4	TTN	2	179612977	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	184643	179612977	63586396	20	46296											
ASNSD1	54529	broad.mit.edu	37	chr2	190530996	190530996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtctgatgttaactaccaGtgtttattttctgctcacgt	9	17	7	8	1	3	1	1	1	2	0	3	1	3	1	1	0	3	3	1	0	4	6			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:190530996G>T	ENST00000260952.4	+	4	551	c.138G>T	c.(136-138)caG>caT	p.Q46H	ASNSD1_ENST00000607690.1_3'UTR|ASNSD1_ENST00000607062.1_Intron|ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607535.1_3'UTR	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	46	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTAACTACCAGTGTTTATTTT	0.378													32	85					8.16721e-17	2.20677e-16	1	0	T	190530996	G	T	190530996	3	4	259	1	0	0	0	0	1	0	0	0	1053	1020	36	4	140	4	ASNSD1	2	190530996	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	10918019	190530996	52668377	21	46297											
ARPP21	10777	broad.mit.edu	37	chr3	35732493	35732493	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaagaccagcagcaccAgaatgtaagccccatcactg	15	5	7	14	0	2	2	2	0	0	2	2	2	2	2	4	0	4	3	4	0	4	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:35732493A>T	ENST00000187397.4	+	9	1138	c.682A>T	c.(682-684)Aga>Tga	p.R228*	ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R228*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R228*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R228*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R228*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	228						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGCAGCACCAGAATGTAAGC	0.368													9	68					0	0	0	0	T	35732493	A	T	35732493	4	4	259	1	0	0	0	0	0	1	0	0	982	180	7	5	721	5	ARPP21	3	35732493	Nonsense_Mutation	SNP	A	TCGA-CV-6945-01A-11D-1912-08		35732493	162289937	22	46298											
CX3CR1	1524	broad.mit.edu	37	chr3	39306963	39306963	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcaatgcatctccatcactCgtgtggtaagtaaaattgct	12	12	8	9	1	2	0	1	0	1	0	4	0	2	0	1	1	3	5	1	1	4	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:39306963C>G	ENST00000541347.1	-	2	1277	c.1038G>C	c.(1036-1038)acG>acC	p.T346T	CX3CR1_ENST00000542107.1_Silent_p.T346T|CX3CR1_ENST00000399220.2_Silent_p.T346T|CX3CR1_ENST00000358309.3_Silent_p.T378T	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	346					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CTCCATCACTCGTGTGGTAAG	0.488													43	84					0	0	0	0	G	39306963	C	G	39306963	2	3	259	1	0	0	0	0	0	0	0	1	4107	871	31	3		3	CX3CR1	3	39306963	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	3574470	39306963	158715467	23	46299											
ACY1	95	broad.mit.edu	37	chr3	52012073	52012073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcccatcttttaccgcgagGtgctcccactcaaccaggca	8	8	8	17	3	2	0	1	0	1	0	3	1	3	0	4	2	3	2	4	2	2	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:52012073G>T	ENST00000458031.2	+	2	342	c.111G>T	c.(109-111)agG>agT	p.R37S	ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.V86L|ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000273596.3_Missense_Mutation_p.V86L|ABHD14A_ENST00000491470.1_Missense_Mutation_p.V86L			Q03154	ACY1_HUMAN	aminoacylase 1	0					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	TTACCGCGAGGTGCTCCCACT	0.617													6	13					0.00198382	0.0043989	1	0	T	52012073	G	T	52012073	3	4	259	1	0	0	0	0	1	0	0	0	226	1261	44	4		4	ACY1	3	52012073	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	12705110	52012073	146010357	24	46300											
OR5H2	79310	broad.mit.edu	37	chr3	98001793	98001793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagagtttgttctcacagGacttacatatcagccagagt	12	11	9	9	0	2	2	2	0	1	2	3	4	2	3	1	1	2	2	1	1	2	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:98001793G>T	ENST00000355273.2	+	1	62	c.62G>T	c.(61-63)gGa>gTa	p.G21V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G21E(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTTCTCACAGGACTTACATAT	0.413													40	172					9.39024e-22	2.60627e-21	1	0	T	98001793	G	T	98001793	3	4	259	1	0	0	0	0	1	0	0	0	11233	1174	41	2	64	2	OR5H2	3	98001793	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	45989720	98001793	100020637	25	46301											
MYH15	22989	broad.mit.edu	37	chr3	108211974	108211974	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttacagatatcaatgtcCacagatgacagcatgcctct	13	11	6	11	0	2	3	1	1	1	2	3	3	3	3	2	0	4	1	2	0	4	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:108211974C>A	ENST00000273353.3	-	9	878	c.822G>T	c.(820-822)gtG>gtT	p.V274V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	274	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TATCAATGTCCACAGATGACA	0.433													8	49					5.18039e-06	1.21471e-05	1	0	A	108211974	C	A	108211974	2	1	259	1	0	0	0	0	0	0	0	1	10104	581	21	4		4	MYH15	3	108211974	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	10210181	108211974	89810456	26	46302											
ARGFX	503582	broad.mit.edu	37	chr3	121304883	121304883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcccaggtttggttcaggaaCcggcgattcaaattgaagaa	12	10	11	8	2	2	2	2	1	0	1	3	4	3	3	2	4	1	2	2	4	4	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:121304883C>A	ENST00000334384.3	+	4	394	c.384C>A	c.(382-384)aaC>aaA	p.N128K		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	128						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GGTTCAGGAACCGGCGATTCA	0.502													8	57					0.000274275	0.000632227	1	0	A	121304883	C	A	121304883	3	1	259	1	0	0	0	0	1	0	0	0	861	506	18	4	398	4	ARGFX	3	121304883	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	13092909	121304883	76717547	27	46303											
SLC15A2	6565	broad.mit.edu	37	chr3	121643791	121643791	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttttatcatggtgttacaGgttctaaatccccttctggt	7	18	7	9	0	3	0	1	0	2	0	4	0	4	0	2	3	1	2	2	3	4	7			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:121643791G>T	ENST00000489711.1	+	13	1423		c.e13-1		SLC15A2_ENST00000295605.2_Splice_Site	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 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)	TGGTGTTACAGGTTCTAAATC	0.393													30	171					7.01153e-11	1.76587e-10	1	0	T	121643791	G	T	121643791	5	4	259	1	0	0	0	0	0	0	1	0	14487	1014	35	4	1085	4	SLC15A2	3	121643791	Splice_Site	SNP	G	TCGA-CV-6945-01A-11D-1912-08	338908	121643791	76378639	28	46304											
SLC7A14	57709	broad.mit.edu	37	chr3	170219002	170219002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactggctccggccgcagtgCcaatcaggtactccaggatc	8	7	11	15	2	1	0	1	0	0	0	4	1	3	1	4	4	2	3	4	4	2	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:170219002C>G	ENST00000231706.4	-	3	752	c.437G>C	c.(436-438)gGc>gCc	p.G146A	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	146						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGCCGCAGTGCCAATCAGGTA	0.557													8	36					0	0	0	0	G	170219002	C	G	170219002	3	3	259	1	0	0	0	0	1	0	0	0	14784	739	26	4	1902	4	SLC7A14	3	170219002	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	48575211	170219002	27803428	29	46305											
PIK3CA	5290	broad.mit.edu	37	chr3	178948136	178948136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattagtaaaggagcccaaGaatgcacaaagacaagagaa	20	5	10	6	0	0	4	0	1	0	3	0	6	0	5	1	1	2	2	1	1	8	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:178948136G>A	ENST00000263967.3	+	20	3065	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	970	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E970K(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGAGCCCAAGAATGCACAAA	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			32	55					0	0	0	0	A	178948136	G	A	178948136	3	1	259	1	0	0	0	0	1	0	0	0	11985	943	33	2	2982	2	PIK3CA	3	178948136	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	8729134	178948136	19074294	30	46306											
ZNF141	7700	broad.mit.edu	37	chr4	367208	367208	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataggtccacaacccttactAaacataagagaattcatact	17	10	4	10	0	1	1	1	0	0	1	2	2	2	1	2	1	4	0	2	1	8	6			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:367208A>G	ENST00000240499.7	+	4	1131	c.982A>G	c.(982-984)Aaa>Gaa	p.K328E	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	328					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AACCCTTACTAAACATAAGAG	0.378													29	65					0	0	0	0	G	367208	A	G	367208	3	3	259	1	0	0	0	0	1	0	0	0	17825	363	13	5	996	5	ZNF141	4	367208	Missense_Mutation	SNP	A	TCGA-CV-6945-01A-11D-1912-08		367208	190787068	31	46307											
HTT	3064	broad.mit.edu	37	chr4	3134446	3134446	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccattagaaccctcacAggtaacggccagtttttcag	11	9	9	12	1	2	1	2	0	0	1	2	1	2	1	3	3	2	3	3	3	3	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:3134446A>T	ENST00000355072.5	+	17	2539	c.2395_splice	c.e17+1	p.T798_splice		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	798					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAACCCTCACAGGTAACGGCC	0.468													44	106					0	0	0	0	T	3134446	A	T	3134446	5	4	259	1	0	0	0	0	0	0	1	0	7510	202	7	5	2460	5	HTT	4	3134446	Splice_Site	SNP	A	TCGA-CV-6945-01A-11D-1912-08	2767238	3134446	188019830	32	46308											
ADRA2C	152	broad.mit.edu	37	chr4	3768967	3768967	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacgagacctggtacatcCtgtcctcctgcatcggctcc	7	9	9	16	3	0	1	0	0	0	1	5	3	4	1	5	2	2	3	5	2	1	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:3768967C>T	ENST00000330055.5	+	1	843	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	ADRA2C_ENST00000509482.1_Silent_p.L212L	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	212					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CTGGTACATCCTGTCCTCCTG	0.682													7	18					0	0	0	0	T	3768967	C	T	3768967	2	4	259	1	0	0	0	0	0	0	0	1	339	680	24	4		4	ADRA2C	4	3768967	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	634521	3768967	187385309	33	46309											
NSUN7	79730	broad.mit.edu	37	chr4	40752855	40752856	+	Frame_Shift_Ins	INS	-	-	T																															tccggactccgtttatgtcaINStggcagccaacatttttcag																										TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:40752855_40752856insT	ENST00000381782.2	+	2	640_641	c.145_146insT	c.(145-147)ggcfs	p.G49fs	NSUN7_ENST00000316607.5_Frame_Shift_Ins_p.G49fs	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CGTTTATGTCATGGCAGCCAAC	0.515													29	118	---	---	---	---					T	40752856	-	T	40752855	7	5	259	1	0	1	1	0	0	0	0	0	10754	217	8	0	147	0	NSUN7	4	40752855	Frame_Shift_Ins	INS	-	TCGA-CV-6945-01A-11D-1912-08	36983888	40752855	150401421	34	46310											
PHOX2B	8929	broad.mit.edu	37	chr4	41747863	41747863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaaggcggctttggcaccGttgggtctttggagcgaaga	8	10	15	8	3	1	1	0	0	1	1	1	3	1	2	1	5	1	3	1	5	2	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:41747863G>C	ENST00000226382.2	-	3	1265	c.906C>G	c.(904-906)aaC>aaG	p.N302K		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	302					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTTTGGCACCGTTGGGTCTTT	0.687			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				27	65					0	0	0	0	C	41747863	G	C	41747863	3	2	259	1	0	0	0	0	1	0	0	0	11931	1136	40	3	42	3	PHOX2B	4	41747863	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	995008	41747863	149406413	35	46311											
KCTD8	386617	broad.mit.edu	37	chr4	44177041	44177041	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtatccattgtacaggTgcttttttagaggggcgatc	7	13	15	6	1	0	1	0	0	0	1	2	2	1	1	1	5	2	3	1	5	3	6			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:44177041T>A	ENST00000360029.3	-	2	1471	c.1188A>T	c.(1186-1188)gcA>gcT	p.A396A		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	396						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATTGTACAGGTGCTTTTTTAG	0.493										HNSCC(17;0.042)			41	216					0	0	0	0	A	44177041	T	A	44177041	2	1	259	1	0	0	0	0	0	0	0	1	8168	1683	59	5		5	KCTD8	4	44177041	Silent	SNP	T	TCGA-CV-6945-01A-11D-1912-08	2429178	44177041	146977235	36	46312											
FRYL	285527	broad.mit.edu	37	chr4	48550722	48550724	+	In_Frame_Del	DEL	GAA	GAA	-																															attacctataaaaattgcatGaagaagaagatggaggtagc																										TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:48550722_48550724delGAA	ENST00000358350.4	-	40	5475_5477	c.4871_4873delTTC	c.(4870-4875)cat>c	p.LH1624del	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_In_Frame_Del_p.LH1624del|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_In_Frame_Del_p.LH1624del	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1624					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAAATTGCATGAAGAAGAAGATG	0.31													12	39	---	---	---	---					-	48550724	GAA	-	48550722	7	5	259	1	0	1	0	1	0	0	0	0	6112	1290	45	0	4268	0	FRYL	4	48550722	In_Frame_Del	DEL	GAA	TCGA-CV-6945-01A-11D-1912-08	4373681	48550722	142603554	37	46313											
FRAS1	80144	broad.mit.edu	37	chr4	79284715	79284715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgatctccacaacactgGgagcatctgcctcaggtgcc	9	8	10	14	0	3	1	1	1	2	0	4	2	3	2	3	2	5	2	3	2	1	0			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:79284715G>T	ENST00000264895.6	+	21	2911	c.2471G>T	c.(2470-2472)gGg>gTg	p.G824V	FRAS1_ENST00000325942.6_Missense_Mutation_p.G824V	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	824					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACAACACTGGGAGCATCTGC	0.582													13	18					1.05317e-09	2.62008e-09	1	0	T	79284715	G	T	79284715	3	4	259	1	0	0	0	0	1	0	0	0	6089	1232	43	4	2553	4	FRAS1	4	79284715	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	30733993	79284715	111869561	38	46314											
PTPN13	5783	broad.mit.edu	37	chr4	87705662	87705662	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatcgtaccccaaaggaaaAtgttctacttatcagataaa	17	11	5	8	1	2	1	1	0	1	1	3	2	2	2	2	1	2	2	2	1	9	6			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:87705662A>T	ENST00000436978.1	+	38	6564	c.6084A>T	c.(6082-6084)aaA>aaT	p.K2028N	PTPN13_ENST00000316707.6_Missense_Mutation_p.K1832N|PTPN13_ENST00000411767.2_Missense_Mutation_p.K2023N|PTPN13_ENST00000511467.1_Missense_Mutation_p.K2028N|PTPN13_ENST00000427191.2_Missense_Mutation_p.K2004N	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2023						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCAAAGGAAAATGTTCTACTT	0.353													3	27					0	0	0	0	T	87705662	A	T	87705662	3	4	259	1	0	0	0	0	1	0	0	0	12862	98	4	5	6230	5	PTPN13	4	87705662	Missense_Mutation	SNP	A	TCGA-CV-6945-01A-11D-1912-08	8420947	87705662	103448614	39	46315											
KIAA0947	23379	broad.mit.edu	37	chr5	5486871	5486871	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgaaagaaggatttccAtctgctgtgaaaaatattag	14	13	10	4	0	1	3	0	2	1	1	2	4	2	4	1	2	1	2	1	2	6	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:5486871A>T	ENST00000296564.7	+	18	6780	c.6558A>T	c.(6556-6558)ccA>ccT	p.P2186P		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2186										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAGGATTTCCATCTGCTGTGA	0.323													3	8					0	0	0	0	T	5486871	A	T	5486871	2	4	259	1	0	0	0	0	0	0	0	1	8253	204	8	5		5	KIAA0947	5	5486871	Silent	SNP	A	TCGA-CV-6945-01A-11D-1912-08		5486871	175428389	40	46316											
DNAH5	1767	broad.mit.edu	37	chr5	13708445	13708445	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcagcctctcttttacCtgccatggagacattcaaag	9	13	7	12	0	3	1	1	0	2	1	4	2	3	1	3	1	4	1	3	1	2	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:13708445C>T	ENST00000265104.4	-	76	13230		c.e76-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTCTTTTACCTGCCATGGAG	0.463									Kartagener syndrome				31	62					0	0	0	0	T	13708445	C	T	13708445	5	4	259	1	0	0	0	0	0	0	1	0	4641	695	24	4	765	4	DNAH5	5	13708445	Splice_Site	SNP	C	TCGA-CV-6945-01A-11D-1912-08	8221574	13708445	167206815	41	46317											
SLC38A9	153129	broad.mit.edu	37	chr5	54968452	54968452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattctcttgttcatggcaGaggcatggtcactaaccctc	9	12	9	11	0	3	1	2	0	1	1	5	2	3	1	1	3	1	3	1	3	2	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:54968452G>A	ENST00000539768.1	-	2	184	c.185C>T	c.(184-186)tCt>tTt	p.S62F	SLC38A9_ENST00000515629.1_5'UTR|SLC38A9_ENST00000416547.2_Intron|SLC38A9_ENST00000396865.2_Missense_Mutation_p.S62F|SLC38A9_ENST00000318672.3_Missense_Mutation_p.S62F|SLC38A9_ENST00000512595.1_Missense_Mutation_p.S35F			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	62					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GTTCATGGCAGAGGCATGGTC	0.413													16	61					0	0	0	0	A	54968452	G	A	54968452	3	1	259	1	0	0	0	0	1	0	0	0	14699	942	33	2	1552	2	SLC38A9	5	54968452	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	41260007	54968452	125946808	42	46318											
PCDHA1	56147	broad.mit.edu	37	chr5	140166108	140166108	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggaccttctggaggtaaAtctgcagaatggcattttgt	10	12	12	7	0	2	1	0	0	2	1	2	3	2	3	1	4	1	3	1	4	3	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:140166108A>T	ENST00000504120.2	+	1	233	c.233A>T	c.(232-234)aAt>aTt	p.N78I	PCDHA1_ENST00000394633.3_Missense_Mutation_p.N78I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.N78I	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGGTAAATCTGCAGAAT	0.597													37	127					0	0	0	0	T	140166108	A	T	140166108	3	4	259	1	0	0	0	0	1	0	0	0	11590	101	4	5	235	5	PCDHA1	5	140166108	Missense_Mutation	SNP	A	TCGA-CV-6945-01A-11D-1912-08	85197656	140166108	40749152	43	46319											
PCDHA8	56140	broad.mit.edu	37	chr5	140222763	140222763	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgcaagcagccctcgCatcccgttccgcgtggggct	5	7	12	17	4	0	0	0	0	0	0	3	0	2	0	4	2	4	6	4	2	1	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:140222763C>A	ENST00000531613.1	+	1	1857	c.1857C>A	c.(1855-1857)cgC>cgA	p.R619R	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.R619R|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCCCTCGCATCCCGTTCC	0.672													48	111					1.61863e-15	4.34474e-15	1	0	A	140222763	C	A	140222763	2	1	259	1	0	0	0	0	0	0	0	1	11601	697	25	4		4	PCDHA8	5	140222763	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	56655	140222763	40692497	44	46320											
PCDHB2	56133	broad.mit.edu	37	chr5	140475707	140475707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acataaccgtgctggtctccGacgtcaatgacaacgccccc	10	7	8	16	4	2	1	1	1	1	0	3	2	2	1	4	1	3	1	4	1	3	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:140475707G>C	ENST00000194155.4	+	1	1481	c.1333G>C	c.(1333-1335)Gac>Cac	p.D445H		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		445	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTCTCCGACGTCAATGA	0.607													55	136					0	0	0	0	C	140475707	G	C	140475707	3	2	259	1	0	0	0	0	1	0	0	0	11613	1058	37	3	1335	3	PCDHB2	5	140475707	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	252944	140475707	40439553	45	46321											
RGS14	10636	broad.mit.edu	37	chr5	176794768	176794768	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgggtgtggaggagttgggGcagctgccacccgttgaggg	5	8	20	8	1	0	1	0	1	0	0	0	3	0	3	2	6	2	4	2	6	0	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:176794768G>T	ENST00000408923.3	+	7	869	c.681G>T	c.(679-681)ggG>ggT	p.G227G		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	227					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGTTGGGGCAGCTGCCAC	0.711													14	49					1.67942e-08	4.103e-08	1	0	T	176794768	G	T	176794768	2	4	259	1	0	0	0	0	0	0	0	1	13380	1190	42	4		4	RGS14	5	176794768	Silent	SNP	G	TCGA-CV-6945-01A-11D-1912-08	36319061	176794768	4120492	46	46322											
DNAH8	1769	broad.mit.edu	37	chr6	38820534	38820534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcaaaagactatgatcGcatcatggccgtcatatcaa	14	10	7	10	2	4	2	4	1	0	1	5	2	4	2	1	1	1	2	1	1	5	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr6:38820534G>A	ENST00000359357.3	+	38	5134	c.4880G>A	c.(4879-4881)cGc>cAc	p.R1627H	DNAH8_ENST00000441566.1_Missense_Mutation_p.R1627H|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1844H					dynein, axonemal, heavy chain 8									p.R1627H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GACTATGATCGCATCATGGCC	0.378													8	30					0	0	0	0	A	38820534	G	A	38820534	3	1	259	1	0	0	0	0	1	0	0	0	4643	1087	38	1	5022	1	DNAH8	6	38820534	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08		38820534	132294533	47	46323											
THBS2	7058	broad.mit.edu	37	chr6	169648982	169648983	+	Frame_Shift_Del	DEL	CG	CG	-																															cggcacgccggggtcgggccCgcggaactgcttggcgccaa																										TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr6:169648982_169648983delCG	ENST00000366787.3	-	4	387_388	c.138_139delCG	c.(136-141)cgggfs	p.RG46fs		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	46	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.R46R(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGTCGGGCCCGCGGAACTGCT	0.584													24	34	---	---	---	---					-	169648983	CG	-	169648982	7	5	259	1	0	1	0	1	0	0	0	0	15948	652	23	0	3459	0	THBS2	6	169648982	Frame_Shift_Del	DEL	CG	TCGA-CV-6945-01A-11D-1912-08	130828448	169648982	1466085	48	46324											
EIF3B	8662	broad.mit.edu	37	chr7	2409186	2409186	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atattccagccagggtaaccCtgatgcagctccctaccagg	10	8	9	14	0	0	1	0	1	0	0	2	1	2	1	5	2	5	3	5	2	3	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:2409186C>A	ENST00000360876.4	+	10	1539	c.1483C>A	c.(1483-1485)Ctg>Atg	p.L495M	EIF3B_ENST00000397011.2_Missense_Mutation_p.L495M	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	495					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CAGGGTAACCCTGATGCAGCT	0.488													6	198					0.00116845	0.00261937	1	0	A	2409186	C	A	2409186	3	1	259	1	0	0	0	0	1	0	0	0	5049	680	24	4	1521	4	EIF3B	7	2409186	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08		2409186	156729477	49	46325											
IQCE	23288	broad.mit.edu	37	chr7	2618149	2618149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcagagaaaaggcccGatgccagttgggtgagtatg	10	8	15	8	1	1	2	0	1	1	1	1	4	1	2	2	3	1	3	2	3	3	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:2618149G>T	ENST00000402050.2	+	8	803	c.619G>T	c.(619-621)Gat>Tat	p.D207Y	IQCE_ENST00000438376.2_Missense_Mutation_p.D191Y|IQCE_ENST00000325979.7_Missense_Mutation_p.D142Y|IQCE_ENST00000404984.1_Missense_Mutation_p.D156Y	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	207										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GAAAAGGCCCGATGCCAGTTG	0.587													28	77					1.42536e-11	3.65752e-11	1	0	T	2618149	G	T	2618149	3	4	259	1	0	0	0	0	1	0	0	0	7859	1058	37	3	649	3	IQCE	7	2618149	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	208963	2618149	156520514	50	46326											
TMEM106B	54664	broad.mit.edu	37	chr7	12263867	12263867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaaagctgtatgtgatGgcttctgtgtttgtctgtct	6	18	11	6	0	4	2	1	1	3	1	4	2	4	2	0	1	1	4	0	1	2	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:12263867G>A	ENST00000396667.2	+	5	619	c.297G>A	c.(295-297)atG>atA	p.M99I	TMEM106B_ENST00000396668.3_Missense_Mutation_p.M99I	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	99						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TGTATGTGATGGCTTCTGTGT	0.388													50	169					0	0	0	0	A	12263867	G	A	12263867	3	1	259	1	0	0	0	0	1	0	0	0	16115	1348	47	4	307	4	TMEM106B	7	12263867	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	9645718	12263867	146874796	51	46327											
PCLO	27445	broad.mit.edu	37	chr7	82584801	82584801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattactaggtggtgtctttGgcctttcccttcttctctga	4	18	9	10	0	3	1	0	1	3	0	5	2	4	1	2	3	1	0	2	3	2	6			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:82584801G>A	ENST00000423517.2	-	5	5805	c.5468C>T	c.(5467-5469)cCa>cTa	p.P1823L	PCLO_ENST00000333891.8_Missense_Mutation_p.P1823L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1754					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTGTCTTTGGCCTTTCCCT	0.423													43	149					0	0	0	0	A	82584801	G	A	82584801	3	1	259	1	0	0	0	0	1	0	0	0	11654	1348	47	4	10061	4	PCLO	7	82584801	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	70320934	82584801	76553862	52	46328											
ADAM22	53616	broad.mit.edu	37	chr7	87785302	87785302	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctactttagttgtgcagcaaGgaagaacattaaactgcagg	14	10	10	7	0	0	1	0	0	0	1	0	2	0	2	0	2	6	4	0	2	7	5			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:87785302G>T	ENST00000398204.4	+	22	2211	c.1888G>T	c.(1888-1890)Gga>Tga	p.G630*	ADAM22_ENST00000398209.3_Nonsense_Mutation_p.G630*|ADAM22_ENST00000398201.4_Nonsense_Mutation_p.G630*|ADAM22_ENST00000315984.7_Nonsense_Mutation_p.G630*|ADAM22_ENST00000265727.7_Nonsense_Mutation_p.G630*	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	630	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGCAGCAAGGAAGAACATT	0.383													19	56					5.35267e-07	1.27713e-06	1	0	T	87785302	G	T	87785302	4	4	259	1	0	0	0	0	0	1	0	0	244	1001	35	4	1974	4	ADAM22	7	87785302	Nonsense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	5200501	87785302	71353361	53	46329											
CCDC132	55610	broad.mit.edu	37	chr7	92905483	92905483	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctttccacagacagcaAtggatcaacttcatatgcac	12	13	5	11	0	3	1	2	0	1	1	4	2	4	2	1	1	3	2	1	1	3	5			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:92905483A>G	ENST00000544910.1	+	13	938	c.718A>G	c.(718-720)Atg>Gtg	p.M240V	CCDC132_ENST00000541136.1_Missense_Mutation_p.M81V|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000305866.5_Missense_Mutation_p.M270V|CCDC132_ENST00000317751.6_Start_Codon_SNP_p.M1V|CCDC132_ENST00000251739.5_Missense_Mutation_p.M270V	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	270										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACAGACAGCAATGGATCAACT	0.343													26	55					0	0	0	0	G	92905483	A	G	92905483	3	3	259	1	0	0	0	0	1	0	0	0	2792	101	4	5	854	5	CCDC132	7	92905483	Missense_Mutation	SNP	A	TCGA-CV-6945-01A-11D-1912-08	5120181	92905483	66233180	54	46330											
ASNS	440	broad.mit.edu	37	chr7	97482391	97482391	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgttcaacgtattccTgtaaaatcttaaaccaggaa	14	12	6	9	1	2	1	1	1	1	0	3	2	3	2	3	1	2	3	3	1	7	5			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:97482391T>A	ENST00000175506.4	-	13	1985	c.1457A>T	c.(1456-1458)cAg>cTg	p.Q486L	ASNS_ENST00000394309.3_Missense_Mutation_p.Q486L|ASNS_ENST00000422745.1_Missense_Mutation_p.Q465L|ASNS_ENST00000444334.1_Missense_Mutation_p.Q465L|ASNS_ENST00000455086.1_Missense_Mutation_p.Q403L|ASNS_ENST00000394308.3_Missense_Mutation_p.Q486L|ASNS_ENST00000437628.1_Missense_Mutation_p.Q403L	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	486	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AACGTATTCCTGTAAAATCTT	0.358													7	29					0	0	0	0	A	97482391	T	A	97482391	3	1	259	1	0	0	0	0	1	0	0	0	1052	1580	55	5	236	5	ASNS	7	97482391	Missense_Mutation	SNP	T	TCGA-CV-6945-01A-11D-1912-08	4576908	97482391	61656272	55	46331											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97939786	97939786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttaccctttgtgaattcGgggcagccgtggctgggtta	6	14	13	8	2	0	1	0	1	0	0	1	1	0	1	2	4	2	3	2	4	4	6			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:97939786G>A	ENST00000005260.8	-	9	1141	c.926C>T	c.(925-927)cCg>cTg	p.P309L	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	309					filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTGAATTCGGGGCAGCCGT	0.398													11	40					0	0	0	0	A	97939786	G	A	97939786	3	1	259	1	0	0	0	0	1	0	0	0	1306	1116	39	1	633	1	BAIAP2L1	7	97939786	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	457395	97939786	61198877	56	46332											
LAMB4	22798	broad.mit.edu	37	chr7	107674717	107674717	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaatggtagagtttgccCgtccttgagtgatttgagct	7	15	13	6	1	0	4	0	3	0	1	1	4	1	4	2	1	2	4	2	1	2	5			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:107674717C>G	ENST00000388781.3	-	31	4837	c.4754G>C	c.(4753-4755)cGg>cCg	p.R1585P	LAMB4_ENST00000388780.3_Missense_Mutation_p.R1585P|LAMB4_ENST00000205386.4_Missense_Mutation_p.R1585P|LAMB4_ENST00000483484.1_5'UTR	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1585	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGAGTTTGCCCGTCCTTGAGT	0.338													30	89					0	0	0	0	G	107674717	C	G	107674717	3	3	259	1	0	0	0	0	1	0	0	0	8666	652	23	3	547	3	LAMB4	7	107674717	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	9734931	107674717	51463946	57	46333											
TAS2R38	5726	broad.mit.edu	37	chr7	141673487	141673487	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggatgcgagttagagtcaaCatgatgtcacttctctaatt	11	13	9	8	2	3	2	2	1	1	1	4	4	3	3	0	1	2	1	0	1	3	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:141673487C>T	ENST00000547270.1	-	1	86	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	1					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TTAGAGTCAACATGATGTCAC	0.448													17	51					0	0	0	0	T	141673487	C	T	141673487	1	4	259	1	0	0	0	0	0	0	0	0	15666	478	17	4		4	TAS2R38	7	141673487	Translation_Start_Site	SNP	C	TCGA-CV-6945-01A-11D-1912-08	33998770	141673487	17465176	58	46334											
ZNF786	136051	broad.mit.edu	37	chr7	148767797	148767797	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgatggctgagcagctgCgccttcaggcggaaactctt	7	9	12	13	2	2	2	1	2	1	0	2	3	2	3	2	3	4	3	2	3	1	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:148767797C>A	ENST00000316286.9	-	3	2081	c.1809G>T	c.(1807-1809)gcG>gcT	p.A603A	ZNF786_ENST00000491431.1_Silent_p.A689A|ZNF786_ENST00000451334.3_Silent_p.A652A			Q8N393	ZN786_HUMAN	zinc finger protein 786	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGAGCAGCTGCGCCTTCAGGC	0.557													53	141					1.39843e-22	3.90794e-22	1	0	A	148767797	C	A	148767797	2	1	259	1	0	0	0	0	0	0	0	1	18251	755	27	3		3	ZNF786	7	148767797	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	7094310	148767797	10370866	59	46335											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744880	70744880	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctccagctgctctcccgccCcgggctgcagtccagtgcct	3	8	10	20	2	1	0	0	0	1	0	4	0	3	0	7	1	4	4	7	1	0	0			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:70744880C>A	ENST00000260126.3	-	2	735	c.29G>T	c.(28-30)gGg>gTg	p.G10V	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G10V|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G10V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	10						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CTCTCCCGCCCCGGGCTGCAG	0.617											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	71					7.38237e-10	1.84786e-09	1	0	A	70744880	C	A	70744880	3	1	259	1	0	0	0	0	1	0	0	0	14819	623	22	4	2553	4	SLCO5A1	8	70744880	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08		70744880	75619142	60	46336											
CA2	760	broad.mit.edu	37	chr8	86385963	86385963	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggcacttacagattgattCagtttcactttcactggggt	9	15	9	8	0	3	2	3	1	0	1	3	2	3	2	0	3	1	2	0	3	1	5			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:86385963C>G	ENST00000285379.5	+	3	504	c.274C>G	c.(274-276)Cag>Gag	p.Q92E		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	92			Q -> P (in OPTB3; in Czechoslovakia).		one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CAGATTGATTCAGTTTCACTT	0.338													14	50					0	0	0	0	G	86385963	C	G	86385963	3	3	259	1	0	0	0	0	1	0	0	0	2541	827	29	2	284	2	CA2	8	86385963	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	15641083	86385963	59978059	61	46337											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886052	88886052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctgcatgcagcttacacGcagctcgcgagctatacggc	8	8	10	15	4	1	0	0	0	1	0	2	1	1	0	1	1	7	6	1	1	3	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:88886052G>T	ENST00000319675.3	-	1	244	c.148C>A	c.(148-150)Cgt>Agt	p.R50S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	50										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAGCTTACACGCAGCTCGCGA	0.502													27	71					3.28513e-13	8.53715e-13	1	0	T	88886052	G	T	88886052	3	4	259	1	0	0	0	0	1	0	0	0	4305	1087	38	3	1043	3	DCAF4L2	8	88886052	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	2500089	88886052	57477970	62	46338											
CSMD3	114788	broad.mit.edu	37	chr8	114326998	114326998	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccattaagtccttttaaaGttccaccacatgtataaata	14	14	4	9	0	0	0	0	0	0	0	2	0	2	0	4	0	1	2	4	0	7	7			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:114326998G>C	ENST00000297405.5	-	2	447	c.203C>G	c.(202-204)aCt>aGt	p.T68S	CSMD3_ENST00000343508.3_Missense_Mutation_p.T28S|CSMD3_ENST00000455883.2_Missense_Mutation_p.T68S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T68S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	68	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCTTTTAAAGTTCCACCACA	0.308										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	138					0	0	0	0	C	114326998	G	C	114326998	3	2	259	1	0	0	0	0	1	0	0	0	3978	1029	36	4	11200	4	CSMD3	8	114326998	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	25440946	114326998	32037024	63	46339											
ASAP1	50807	broad.mit.edu	37	chr8	131127924	131127924	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctcctcctgtcgaagatTccactcatattctacgtgga	9	14	6	12	2	3	1	1	0	2	1	7	3	5	2	3	1	1	0	3	1	4	5			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:131127924T>C	ENST00000357668.1	-	22	2149	c.2122A>G	c.(2122-2124)Aat>Gat	p.N708D	ASAP1_ENST00000518721.1_Missense_Mutation_p.N708D			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	708					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGTCGAAGATTCCACTCATAT	0.413													36	298					0	0	0	0	C	131127924	T	C	131127924	3	2	259	1	0	0	0	0	1	0	0	0	1014	1783	62	5	1299	5	ASAP1	8	131127924	Missense_Mutation	SNP	T	TCGA-CV-6945-01A-11D-1912-08	16800926	131127924	15236098	64	46340											
FAM135B	51059	broad.mit.edu	37	chr8	139160820	139160820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttccaaattttcttcctCttcctctggtgggaaatatg	8	17	6	10	0	4	0	0	0	4	0	7	1	7	1	3	2	0	0	3	2	3	6			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:139160820C>T	ENST00000395297.1	-	14	3561	c.3391G>A	c.(3391-3393)Gag>Aag	p.E1131K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1131								p.E1131K(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTTCTTCCTCTTCCTCTGGT	0.373										HNSCC(54;0.14)			5	23					0	0	0	0	T	139160820	C	T	139160820	3	4	259	1	0	0	0	0	1	0	0	0	5490	922	32	2	857	2	FAM135B	8	139160820	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	8032896	139160820	7203202	65	46341											
CHRAC1	54108	broad.mit.edu	37	chr8	141521631	141521631	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtgggtaaagacaagggCggggagcagcggctcatctc	9	6	17	9	3	2	1	1	0	1	1	4	2	2	2	0	5	2	3	0	5	3	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:141521631C>A	ENST00000220913.5	+	1	235	c.33C>A	c.(31-33)ggC>ggA	p.G11G	CHRAC1_ENST00000519533.1_Silent_p.G11G	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	11					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			AAGACAAGGGCGGGGAGCAGC	0.697													6	7					0.00116845	0.00261937	1	0	A	141521631	C	A	141521631	2	1	259	1	0	0	0	0	0	0	0	1	3400	755	27	3		3	CHRAC1	8	141521631	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	2360811	141521631	4842391	66	46342											
RECQL4	9401	broad.mit.edu	37	chr8	145738093	145738093	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcaatgggtataggtggtCgccagcagctccagccagtg	8	7	15	11	2	0	0	0	0	0	0	2	0	1	0	3	4	3	4	3	4	3	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:145738093C>T	ENST00000428558.2	-	17	2858	c.2817G>A	c.(2815-2817)gcG>gcA	p.A939A	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	939					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TATAGGTGGTCGCCAGCAGCT	0.672			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				5	35					0	0	0	0	T	145738093	C	T	145738093	2	4	259	1	0	0	0	0	0	0	0	1	13284	871	31	1		1	RECQL4	8	145738093	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	4216462	145738093	625929	67	46343											
PSIP1	11168	broad.mit.edu	37	chr9	15478476	15478485	+	Splice_Site	DEL	TGTCACTCTC	TGTCACTCTC	-																															acattaaaaataaactcacaTgtcactctctgaaggacagg																										TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr9:15478476_15478485delTGTCACTCTC	ENST00000380733.4	-	8	962_971	c.629_splice	c.e8+1	p.ESDI207_splice	PSIP1_ENST00000380715.1_Splice_Site_p.ESDI207_splice|PSIP1_ENST00000380716.4_Splice_Site_p.ESDI207_splice|PSIP1_ENST00000397519.2_Splice_Site_p.ESDI207_splice|PSIP1_ENST00000380738.4_Splice_Site_p.ESDI207_splice			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	207					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TAAACTCACATGTCACTCTCTGAAGGACAG	0.338													17	69	---	---	---	---					-	15478485	TGTCACTCTC	-	15478476	8	5	259	1	0	1	0	1	0	0	1	0	12742	1478	51	0	1029	0	PSIP1	9	15478476	Splice_Site	DEL	TGTCACTCTC	TCGA-CV-6945-01A-11D-1912-08		15478476	125734955	68	46344											
UBAP1	51271	broad.mit.edu	37	chr9	34249862	34249862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaactgcagatgctgtcccCcagcgagcggcagtgtgtgg	7	8	15	11	2	0	2	0	1	0	1	1	3	1	2	2	2	5	3	2	2	1	0			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr9:34249862C>T	ENST00000536252.1	+	6	1567	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	UBAP1_ENST00000297661.4_Missense_Mutation_p.P390L|UBAP1_ENST00000545103.1_Missense_Mutation_p.P454L|UBAP1_ENST00000359544.2_Missense_Mutation_p.P390L|UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000543944.1_Missense_Mutation_p.P426L|UBAP1_ENST00000540348.1_Missense_Mutation_p.P390L	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	390	UBA 1.					cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			ATGCTGTCCCCCAGCGAGCGG	0.532													39	57					0	0	0	0	T	34249862	C	T	34249862	3	4	259	1	0	0	0	0	1	0	0	0	16932	623	22	4	1420	4	UBAP1	9	34249862	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	18771386	34249862	106963569	69	46345											
FBXO18	84893	broad.mit.edu	37	chr10	5948284	5948284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggagtttctaagaaagctCcacggcaccatttgtctgtg	10	12	10	9	1	2	1	0	0	2	1	3	2	3	2	2	2	1	3	2	2	2	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:5948284C>T	ENST00000379999.5	+	4	699	c.595C>T	c.(595-597)Cca>Tca	p.P199S	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.P148S	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	148					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TAAGAAAGCTCCACGGCACCA	0.597													5	35					0	0	0	0	T	5948284	C	T	5948284	3	4	259	1	0	0	0	0	1	0	0	0	5776	855	30	2	614	2	FBXO18	10	5948284	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08		5948284	129586463	70	46346											
ITGA8	8516	broad.mit.edu	37	chr10	15760779	15760779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttactggtggtgtcaaacGgtatctgcctgcactgcgca	8	11	11	11	2	2	0	1	0	1	0	2	0	2	0	1	3	5	3	1	3	3	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:15760779G>T	ENST00000378076.3	-	2	682	c.329C>A	c.(328-330)cCg>cAg	p.P110Q		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	110					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGTGTCAAACGGTATCTGCCT	0.597													36	78					4.3181e-19	1.18241e-18	1	0	T	15760779	G	T	15760779	3	4	259	1	0	0	0	0	1	0	0	0	7935	1116	39	3	2978	3	ITGA8	10	15760779	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	9812495	15760779	119773968	71	46347											
CUBN	8029	broad.mit.edu	37	chr10	16918894	16918894	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtcattatggctactcAcagattatcctataggaaaa	13	13	6	9	0	3	1	2	0	1	1	4	2	4	2	1	2	1	1	1	2	7	5			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:16918894A>T	ENST00000377833.4	-	57	9172		c.e57+1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGGCTACTCACAGATTATCC	0.418													10	53					0	0	0	0	T	16918894	A	T	16918894	5	4	259	1	0	0	0	0	0	0	1	0	4083	173	6	5	1807	5	CUBN	10	16918894	Splice_Site	SNP	A	TCGA-CV-6945-01A-11D-1912-08	1158115	16918894	118615853	72	46348											
ZNF365	22891	broad.mit.edu	37	chr10	64159517	64159517	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggcccaaaatggctaaaaAaaagccaacagccattgtga	18	5	8	10	0	0	1	0	1	0	0	0	1	0	1	3	2	3	1	3	2	7	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:64159517A>G	ENST00000395254.3	+	5	1473	c.1193A>G	c.(1192-1194)aAa>aGa	p.K398R	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATGGCTAAAAAAAAGCCAACA	0.517													9	35					0	0	0	0	G	64159517	A	G	64159517	3	3	259	1	0	0	0	0	1	0	0	0	17964	14	1	5	1207	5	ZNF365	10	64159517	Missense_Mutation	SNP	A	TCGA-CV-6945-01A-11D-1912-08	47240623	64159517	71375230	73	46349											
TBC1D12	23232	broad.mit.edu	37	chr10	96162460	96162460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaccccgtgggccaggacagGaaggtaatccgggccacggg	9	3	17	12	3	0	0	0	0	0	0	1	3	1	2	5	6	0	1	5	6	2	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:96162460G>A	ENST00000225235.4	+	1	200	c.90G>A	c.(88-90)agG>agA	p.R30R		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	30						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GCCAGGACAGGAAGGTAATCC	0.706													3	5					0	0	0	0	A	96162460	G	A	96162460	2	1	259	1	0	0	0	0	0	0	0	1	15692	1165	41	2		2	TBC1D12	10	96162460	Silent	SNP	G	TCGA-CV-6945-01A-11D-1912-08	32002943	96162460	39372287	74	46350											
GLRX3	10539	broad.mit.edu	37	chr10	131973264	131973264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgttgtttctttaggttCggcaaggattaaaagcttac	9	16	9	7	1	1	0	0	0	1	0	3	1	2	1	1	3	2	5	1	3	5	7			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:131973264C>T	ENST00000368644.1	+	10	890	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	GLRX3_ENST00000331244.5_Missense_Mutation_p.R290W	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	290	Glutaredoxin 2.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		TCTTTAGGTTCGGCAAGGATT	0.428													10	53					0	0	0	0	T	131973264	C	T	131973264	3	4	259	1	0	0	0	0	1	0	0	0	6512	875	31	1	906	1	GLRX3	10	131973264	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	35810804	131973264	3561483	75	46351											
DPYSL4	10570	broad.mit.edu	37	chr10	134014379	134014379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgacaggcagcgcccactgCaccttcaccactgcccagaa	10	5	9	17	1	1	2	1	1	0	1	1	2	1	2	4	1	3	2	4	1	1	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:134014379C>T	ENST00000338492.4	+	10	1166	c.1002C>T	c.(1000-1002)tgC>tgT	p.C334C	DPYSL4_ENST00000368627.1_Silent_p.C234C|DPYSL4_ENST00000368629.1_Silent_p.C234C	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	334					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCGCCCACTGCACCTTCACCA	0.647													6	15					0	0	0	0	T	134014379	C	T	134014379	2	4	259	1	0	0	0	0	0	0	0	1	4785	718	25	4		4	DPYSL4	10	134014379	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	2041115	134014379	1520368	76	46352											
OR5A2	219981	broad.mit.edu	37	chr11	59190241	59190241	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggacaggttactgaggaaGaagtacatgggcatgtgcag	14	7	15	5	0	0	2	0	1	0	1	0	4	0	4	0	4	3	4	0	4	5	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr11:59190241G>A	ENST00000302040.4	-	1	208	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TACTGAGGAAGAAGTACATGG	0.493													21	70					0	0	0	0	A	59190241	G	A	59190241	2	1	259	1	0	0	0	0	0	0	0	1	11211	933	33	2		2	OR5A2	11	59190241	Silent	SNP	G	TCGA-CV-6945-01A-11D-1912-08		59190241	75816275	77	46353											
OR5A1	219982	broad.mit.edu	37	chr11	59211053	59211053	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccccttctctaccccactAtcatgacccagggcctctgt	6	10	6	19	0	3	1	1	1	2	0	4	1	3	1	6	1	1	0	6	1	2	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr11:59211053A>G	ENST00000302030.2	+	1	437	c.412A>G	c.(412-414)Atc>Gtc	p.I138V		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTACCCCACTATCATGACCCA	0.542													35	292					0	0	0	0	G	59211053	A	G	59211053	3	3	259	1	0	0	0	0	1	0	0	0	11210	449	16	5	414	5	OR5A1	11	59211053	Missense_Mutation	SNP	A	TCGA-CV-6945-01A-11D-1912-08	20812	59211053	75795463	78	46354											
NPAS4	266743	broad.mit.edu	37	chr11	66192686	66192686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagcattcccctatgatggGtttactgatgagttgcatca	9	14	9	9	0	2	3	2	3	0	0	3	3	3	3	2	1	3	4	2	1	2	5			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr11:66192686G>A	ENST00000311034.2	+	7	2501	c.2325G>A	c.(2323-2325)ggG>ggA	p.G775G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	775					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTATGATGGGTTTACTGATG	0.512													18	42					0	0	0	0	A	66192686	G	A	66192686	2	1	259	1	0	0	0	0	0	0	0	1	10635	1248	44	4		4	NPAS4	11	66192686	Silent	SNP	G	TCGA-CV-6945-01A-11D-1912-08	6981633	66192686	68813830	79	46355											
B3GAT1	27087	broad.mit.edu	37	chr11	134253871	134253871	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttgggcacgtgcagcagCgtgttggccatgcgcgtcag	6	8	17	10	4	1	0	1	0	0	0	1	0	1	0	1	3	4	5	1	3	0	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr11:134253871C>T	ENST00000524765.1	-	3	4868	c.324G>A	c.(322-324)acG>acA	p.T108T	B3GAT1_ENST00000312527.4_Silent_p.T108T|B3GAT1_ENST00000537389.1_Silent_p.T121T|B3GAT1_ENST00000392580.1_Silent_p.T108T			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	108					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGTGCAGCAGCGTGTTGGCCA	0.716													10	7					0	0	0	0	T	134253871	C	T	134253871	2	4	259	1	0	0	0	0	0	0	0	1	1257	755	27	1		1	B3GAT1	11	134253871	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	68061185	134253871	752645	80	46356											
USP5	8078	broad.mit.edu	37	chr12	6970679	6970679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgccagaactggttcGggcccaggtgcccttcagct	6	8	13	14	1	1	1	1	0	0	1	2	1	1	1	3	4	4	3	3	4	1	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:6970679G>A	ENST00000229268.8	+	13	1623	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q	USP5_ENST00000389231.5_Missense_Mutation_p.R524Q|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	524					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GAACTGGTTCGGGCCCAGGTG	0.607													51	67					0	0	0	0	A	6970679	G	A	6970679	3	1	259	1	0	0	0	0	1	0	0	0	17177	1116	39	1	1621	1	USP5	12	6970679	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08		6970679	126881216	81	46357											
ATN1	1822	broad.mit.edu	37	chr12	7046365	7046365	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacggaaagagagccccgtcCccgggggcctacaagacagc	11	3	13	14	3	0	2	0	0	0	2	1	4	1	3	5	3	4	0	5	3	4	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:7046365C>G	ENST00000356654.4	+	5	2172	c.1935C>G	c.(1933-1935)tcC>tcG	p.S645S	ATN1_ENST00000396684.2_Silent_p.S645S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	645					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GAGCCCCGTCCCCGGGGGCCT	0.672													12	47					0	0	0	0	G	7046365	C	G	7046365	2	3	259	1	0	0	0	0	0	0	0	1	1115	610	22	4		4	ATN1	12	7046365	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	75686	7046365	126805530	82	46358											
SLC2A14	144195	broad.mit.edu	37	chr12	7973851	7973851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatagtattaaccacacccGcgctgatggtggcatagatg	12	9	11	9	2	0	3	0	1	0	2	0	3	0	3	2	2	1	3	2	2	4	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:7973851G>A	ENST00000543909.1	-	13	1763	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	SLC2A14_ENST00000535295.1_Missense_Mutation_p.A226V|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A350V|SLC2A14_ENST00000542505.1_5'UTR|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A226V|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A312V|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A312V|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A335V			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	335					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.A335V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AACCACACCCGCGCTGATGGT	0.413													43	122					0	0	0	0	A	7973851	G	A	7973851	3	1	259	1	0	0	0	0	1	0	0	0	14631	1087	38	1	574	1	SLC2A14	12	7973851	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	927486	7973851	125878044	83	46359											
SLCO1B3	28234	broad.mit.edu	37	chr12	21069131	21069131	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtaccttctgctggaacaGatagtaaaacatgtaatttg	13	14	8	6	0	1	1	0	0	1	1	1	2	1	2	1	1	4	4	1	1	6	7			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:21069131G>C	ENST00000381545.3	+	16	2278	c.2059G>C	c.(2059-2061)Gat>Cat	p.D687H	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D687H|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	687					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGCTGGAACAGATAGTAAAAC	0.348													19	34					0	0	0	0	C	21069131	G	C	21069131	3	2	259	1	0	0	0	0	1	0	0	0	14812	942	33	2	2113	2	SLCO1B3	12	21069131	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	13095280	21069131	112782764	84	46360											
ABCC9	10060	broad.mit.edu	37	chr12	21958120	21958120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatggtctacttgttggtCatcaccaaagtggaaaagag	13	11	11	6	0	3	2	2	1	1	1	3	3	3	3	1	3	1	1	1	3	4	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:21958120C>A	ENST00000261201.4	-	38	4637	c.4638G>T	c.(4636-4638)atG>atT	p.M1546I	ABCC9_ENST00000345162.2_Missense_Mutation_p.M1510I|ABCC9_ENST00000261200.4_Intron	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1546	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.M1546I(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACTTGTTGGTCATCACCAAAG	0.438													25	56					4.26978e-12	1.10258e-11	1	0	A	21958120	C	A	21958120	3	1	259	1	0	0	0	0	1	0	0	0	59	826	29	2	157	2	ABCC9	12	21958120	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	888989	21958120	111893775	85	46361											
SLC4A8	9498	broad.mit.edu	37	chr12	51853842	51853842	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttgcctttgtgaggctGtctccagctgttcttctctc	3	18	9	11	0	3	1	0	1	3	0	6	1	3	1	2	1	2	4	2	1	0	5			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:51853842G>T	ENST00000453097.2	+	8	1180	c.963G>T	c.(961-963)ctG>ctT	p.L321L	SLC4A8_ENST00000535225.2_Silent_p.L268L|SLC4A8_ENST00000514353.3_Silent_p.L268L|SLC4A8_ENST00000394856.1_Silent_p.L268L|SLC4A8_ENST00000358657.3_Silent_p.L348L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	321					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTGTGAGGCTGTCTCCAGCTG	0.438													36	179					6.03168e-27	1.69719e-26	1	0	T	51853842	G	T	51853842	2	4	259	1	0	0	0	0	0	0	0	1	14747	1364	48	4		4	SLC4A8	12	51853842	Silent	SNP	G	TCGA-CV-6945-01A-11D-1912-08	29895722	51853842	81998053	86	46362											
KRT83	3889	broad.mit.edu	37	chr12	52709747	52709747	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctagcttggagttcaTcacctcctggtactccctga	7	11	9	14	0	2	1	2	1	0	0	4	2	4	2	4	3	2	3	4	3	2	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:52709747T>A	ENST00000293670.3	-	7	1254	c.1192A>T	c.(1192-1194)Atg>Ttg	p.M398L	AC121757.1_ENST00000594763.1_Intron	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	398	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGGAGTTCATCACCTCCTGG	0.637													20	95					0	0	0	0	A	52709747	T	A	52709747	3	1	259	1	0	0	0	0	1	0	0	0	8549	1435	50	5	301	5	KRT83	12	52709747	Missense_Mutation	SNP	T	TCGA-CV-6945-01A-11D-1912-08	855905	52709747	81142148	87	46363											
LRP1	4035	broad.mit.edu	37	chr12	57532268	57532268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacttgcagccccaagcagTttgcctgcagagatcaaata	13	8	9	11	0	1	2	1	0	0	2	1	3	1	2	3	0	5	4	3	0	3	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:57532268T>C	ENST00000243077.3	+	2	560	c.94T>C	c.(94-96)Ttt>Ctt	p.F32L	LRP1_ENST00000553277.1_Missense_Mutation_p.F32L|LRP1_ENST00000338962.4_Missense_Mutation_p.F32L|LRP1_ENST00000554174.1_Missense_Mutation_p.F32L	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	32	LDL-receptor class A 1.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCCAAGCAGTTTGCCTGCAG	0.527													28	126					0	0	0	0	C	57532268	T	C	57532268	3	2	259	1	0	0	0	0	1	0	0	0	9015	1725	60	5	100	5	LRP1	12	57532268	Missense_Mutation	SNP	T	TCGA-CV-6945-01A-11D-1912-08	4822521	57532268	76319627	88	46364											
NR1H4	9971	broad.mit.edu	37	chr12	100955674	100955674	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccacaggtatctctgatGaatatataacacctatgttt	12	13	5	11	0	1	2	0	2	1	0	2	2	1	2	3	1	1	2	3	1	6	6			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:100955674G>T	ENST00000548884.1	+	10	1619	c.1078G>T	c.(1078-1080)Gaa>Taa	p.E360*	NR1H4_ENST00000188403.7_Nonsense_Mutation_p.E370*|NR1H4_ENST00000551379.1_Nonsense_Mutation_p.E374*|NR1H4_ENST00000392986.3_Nonsense_Mutation_p.E364*|NR1H4_ENST00000549996.1_Nonsense_Mutation_p.E313*	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	374	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TATCTCTGATGAATATATAAC	0.333													7	33					2.7689e-08	6.72446e-08	1	0	T	100955674	G	T	100955674	4	4	259	1	0	0	0	0	0	1	0	0	10690	1291	45	2	1108	2	NR1H4	12	100955674	Nonsense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	43423406	100955674	32896221	89	46365											
APPL2	55198	broad.mit.edu	37	chr12	105600878	105600878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgggctccatcatggcCatttgctttctgtactgcag	7	14	9	11	0	3	0	2	0	1	0	4	0	4	0	2	2	3	4	2	2	1	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:105600878C>T	ENST00000258530.3	-	8	807	c.582G>A	c.(580-582)atG>atA	p.M194I	APPL2_ENST00000539978.2_Missense_Mutation_p.M151I|APPL2_ENST00000551662.1_Missense_Mutation_p.M200I|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	194	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCATCATGGCCATTTGCTTTC	0.597													13	68					0	0	0	0	T	105600878	C	T	105600878	3	4	259	1	0	0	0	0	1	0	0	0	820	594	21	4	1468	4	APPL2	12	105600878	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	4645204	105600878	28251017	90	46366											
MYO1H	283446	broad.mit.edu	37	chr12	109849746	109849746	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctacagacttgagtttcctGgagaaattggaagagaaagt	14	10	12	5	0	0	4	0	1	0	3	1	7	1	5	1	2	1	2	1	2	4	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:109849746G>C	ENST00000310903.5	+	14	1516	c.1410G>C	c.(1408-1410)ctG>ctC	p.L470L	MYO1H_ENST00000431443.2_Silent_p.L480L			B4DNW6	B4DNW6_HUMAN	myosin IH	189						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TGAGTTTCCTGGAGAAATTGG	0.433													3	10					0	0	0	0	C	109849746	G	C	109849746	2	2	259	1	0	0	0	0	0	0	0	1	10145	1335	47	4		4	MYO1H	12	109849746	Silent	SNP	G	TCGA-CV-6945-01A-11D-1912-08	4248868	109849746	24002149	91	46367											
SDSL	113675	broad.mit.edu	37	chr12	113872019	113872019	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccccccgtttgaccacccCctaatatggtaaggctgacg	8	9	9	15	2	0	2	0	2	0	0	1	2	1	2	6	2	0	3	6	2	3	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:113872019C>A	ENST00000403593.4	+	5	697	c.435C>A	c.(433-435)ccC>ccA	p.P145P	SDSL_ENST00000345635.4_Silent_p.P145P			Q96GA7	SDSL_HUMAN	serine dehydratase-like	145					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	TTGACCACCCCCTAATATGGT	0.602													26	115					2.48779e-11	6.34388e-11	1	0	A	113872019	C	A	113872019	2	1	259	1	0	0	0	0	0	0	0	1	14063	610	22	4		4	SDSL	12	113872019	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	4022273	113872019	19979876	92	46368											
PITPNM2	57605	broad.mit.edu	37	chr12	123482024	123482024	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttcttggagctggggtcCccggcgcctgtgtccaggat	3	10	14	14	2	1	0	0	0	1	0	3	2	3	2	5	5	1	1	5	5	0	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:123482024C>T	ENST00000280562.5	-	10	1525	c.1320G>A	c.(1318-1320)ggG>ggA	p.G440G	PITPNM2_ENST00000392428.1_Silent_p.G161G|PITPNM2_ENST00000320201.4_Silent_p.G440G|PITPNM2_ENST00000542749.1_Silent_p.G440G			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	440					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGCTGGGGTCCCCGGCGCCTG	0.662													28	87					0	0	0	0	T	123482024	C	T	123482024	2	4	259	1	0	0	0	0	0	0	0	1	12023	610	22	4		4	PITPNM2	12	123482024	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	9610005	123482024	10369871	93	46369											
PXMP2	5827	broad.mit.edu	37	chr12	133266864	133266864	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtggcattttgtcagcActtgggaacttcctggccca	8	11	10	12	0	1	0	1	0	0	0	2	1	2	1	2	3	2	2	2	3	1	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:133266864A>T	ENST00000317479.3	+	2	203	c.138A>T	c.(136-138)gcA>gcT	p.A46A	PXMP2_ENST00000543589.1_Silent_p.A46A|PXMP2_ENST00000545677.1_5'UTR|RP13-672B3.2_ENST00000537262.1_5'UTR|PXMP2_ENST00000539093.1_5'UTR	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	46						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		TTTTGTCAGCACTTGGGAACT	0.512													17	72					0	0	0	0	T	133266864	A	T	133266864	2	4	259	1	0	0	0	0	0	0	0	1	12932	146	6	5		5	PXMP2	12	133266864	Silent	SNP	A	TCGA-CV-6945-01A-11D-1912-08	9784840	133266864	585031	94	46370											
BRCA2	675	broad.mit.edu	37	chr13	32907432	32907432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataaaggaaaaaaaatacCgaaagaccaaaaatcagaac	25	5	5	6	1	1	2	1	0	0	2	1	4	1	3	2	1	2	0	2	1	12	3	rs80358469		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr13:32907432C>T	ENST00000544455.1	+	10	2044	c.1817C>T	c.(1816-1818)cCg>cTg	p.P606L	BRCA2_ENST00000380152.3_Missense_Mutation_p.P606L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	606					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAAAATACCGAAAGACCAA	0.318			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			6	33					0	0	0	0	T	32907432	C	T	32907432	3	4	259	1	0	0	0	0	1	0	0	0	1507	652	23	1	1851	1	BRCA2	13	32907432	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08		32907432	82262446	95	46371											
LMO7	4008	broad.mit.edu	37	chr13	76393647	76393647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctaagagaagctctaagaCgtttaaggaaatgctgcagg	14	9	12	6	1	2	2	0	0	2	2	2	4	2	3	0	2	3	4	0	2	5	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr13:76393647C>T	ENST00000357063.3	+	14	3599	c.2339C>T	c.(2338-2340)aCg>aTg	p.T780M	LMO7_ENST00000341547.4_Missense_Mutation_p.T446M|LMO7_ENST00000377534.3_Missense_Mutation_p.T780M|LMO7_ENST00000465261.2_Missense_Mutation_p.T495M|LMO7_ENST00000526202.1_Missense_Mutation_p.T345M|LMO7_ENST00000321797.8_Missense_Mutation_p.T495M			Q8WWI1	LMO7_HUMAN	LIM domain 7	780						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGCTCTAAGACGTTTAAGGAA	0.388													16	38					0	0	0	0	T	76393647	C	T	76393647	3	4	259	1	0	0	0	0	1	0	0	0	8910	536	19	1	2393	1	LMO7	13	76393647	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	43486215	76393647	38776231	96	46372											
SCEL	8796	broad.mit.edu	37	chr13	78183252	78183252	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacagaaaaaagtactgaagGgtaagatttaataagctccc	19	8	8	6	0	0	3	0	1	0	2	1	3	1	3	1	1	3	3	1	1	9	5			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr13:78183252G>T	ENST00000535157.1	+	19	1321	c.1151_splice	c.e19+1	p.G384_splice	SCEL_ENST00000377246.3_Splice_Site_p.G406_splice|SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000349847.3_Splice_Site_p.G426_splice	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	426	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AGTACTGAAGGGTAAGATTTA	0.313													10	17					1.58986e-06	3.77131e-06	1	0	T	78183252	G	T	78183252	5	4	259	1	0	0	0	0	0	0	1	0	13974	1246	43	4	1355	4	SCEL	13	78183252	Splice_Site	SNP	G	TCGA-CV-6945-01A-11D-1912-08	1789605	78183252	36986626	97	46373											
FGF14	2259	broad.mit.edu	37	chr13	102375271	102375271	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcgtcaccccaggcttcggGaccgtttccccaacatcatg	7	8	10	16	3	2	0	2	0	0	0	4	1	3	1	5	3	1	2	5	3	1	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr13:102375271G>C	ENST00000376131.4	-	5	764	c.669C>G	c.(667-669)gtC>gtG	p.V223V	ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376143.4_Silent_p.V218V	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	218					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGGCTTCGGGACCGTTTCCC	0.478													45	41					0	0	0	0	C	102375271	G	C	102375271	2	2	259	1	0	0	0	0	0	0	0	1	5888	1161	41	2		2	FGF14	13	102375271	Silent	SNP	G	TCGA-CV-6945-01A-11D-1912-08	24192019	102375271	12794607	98	46374											
TOX4	9878	broad.mit.edu	37	chr14	21957421	21957421	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagatcctaatgaaccTcagaaaccagtttcagcata	18	8	6	9	0	2	4	2	1	0	3	3	4	3	4	3	0	3	2	3	0	6	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:21957421T>C	ENST00000405508.1	+	6	945	c.669T>C	c.(667-669)ccT>ccC	p.P223P	TOX4_ENST00000262709.3_Silent_p.P223P|TOX4_ENST00000448790.2_Silent_p.P200P			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	223						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CTAATGAACCTCAGAAACCAG	0.443													58	72					0	0	0	0	C	21957421	T	C	21957421	2	2	259	1	0	0	0	0	0	0	0	1	16475	1538	54	5		5	TOX4	14	21957421	Silent	SNP	T	TCGA-CV-6945-01A-11D-1912-08		21957421	85392119	99	46375											
IRF9	10379	broad.mit.edu	37	chr14	24631429	24631450	+	Frame_Shift_Del	DEL	CCCGGAGTGTGCTGGGATGATA	CCCGGAGTGTGCTGGGATGATA	-																															aagtggagagtgggcagtttCccggagtgtgctgggatgat																								rs145197850	byFrequency	TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:24631429_24631450delCCCGGAGTGTGCTGGGATGATA	ENST00000396864.3	+	2	363_384	c.76_97delCCCGGAGTGTGCTGGGATGATA	c.(76-99)cafs	p.PGVCWDDT26fs	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Intron	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	26					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	p.D32N(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		TGGGCAGTTTCCCGGAGTGTGCTGGGATGATACAGCTAAGAC	0.572													23	132	---	---	---	---					-	24631450	CCCGGAGTGTGCTGGGATGATA	-	24631429	7	5	259	1	0	1	0	1	0	0	0	0	7890	855	30	0	78	0	IRF9	14	24631429	Frame_Shift_Del	DEL	CCCGGAGTGTGCTGGGATGATA	TCGA-CV-6945-01A-11D-1912-08	2674008	24631429	82718111	100	46376											
KCNH5	27133	broad.mit.edu	37	chr14	63246619	63246619	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtttccttccagaagaTgtctccaaatacatcaccct	10	12	7	12	0	2	2	1	0	1	2	5	2	4	2	4	2	1	1	4	2	3	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:63246619T>A	ENST00000322893.7	-	10	2114	c.1846A>T	c.(1846-1848)Atc>Ttc	p.I616F	KCNH5_ENST00000394968.1_Missense_Mutation_p.I558F|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	616					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCCAGAAGATGTCTCCAAAT	0.423													14	31					0	0	0	0	A	63246619	T	A	63246619	3	1	259	1	0	0	0	0	1	0	0	0	8088	1464	51	5	1162	5	KCNH5	14	63246619	Missense_Mutation	SNP	T	TCGA-CV-6945-01A-11D-1912-08	38615190	63246619	44102921	101	46377											
AKAP5	9495	broad.mit.edu	37	chr14	64936395	64936395	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataaacaatcttctacagtGacttactctccagagtcacg	14	11	5	11	1	4	2	1	1	3	1	5	2	4	2	1	0	3	0	1	0	6	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:64936395G>C	ENST00000320636.5	+	1	2571	c.1283G>C	c.(1282-1284)tGa>tCa	p.*428S	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000394718.3_Nonstop_Mutation_p.*428S			P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	0					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CTTCTACAGTGACTTACTCTC	0.343													11	65					0	0	0	0	C	64936395	G	C	64936395	4	2	259	1	0	0	0	0	0	0	0	0	454	1285	45	2	1285	2	AKAP5	14	64936395	Nonstop_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	1689776	64936395	42413145	102	46378											
YLPM1	56252	broad.mit.edu	37	chr14	75264441	75264441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtggggaatgattccccGggggccagcatctcaatttt	9	10	12	10	1	1	1	1	1	1	0	3	2	2	2	3	4	1	1	3	4	3	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:75264441G>A	ENST00000325680.7	+	5	2565	c.2441G>A	c.(2440-2442)cGg>cAg	p.R814Q	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.R619Q	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	619	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATGATTCCCCGGGGGCCAGCA	0.532													11	36					0	0	0	0	A	75264441	G	A	75264441	3	1	259	1	0	0	0	0	1	0	0	0	17582	1116	39	1	2459	1	YLPM1	14	75264441	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	10328046	75264441	32085099	103	46379											
HERC2	8924	broad.mit.edu	37	chr15	28491924	28491924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgtaagccacctccgCgaagtgccgccagctggtag	10	6	11	14	3	0	0	0	0	0	0	1	1	1	0	5	1	3	3	5	1	4	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr15:28491924C>T	ENST00000261609.7	-	22	3463	c.3355G>A	c.(3355-3357)Gcg>Acg	p.A1119T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1119					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCACCTCCGCGAAGTGCCGC	0.488													14	47					0	0	0	0	T	28491924	C	T	28491924	3	4	259	1	0	0	0	0	1	0	0	0	7108	768	27	1	11437	1	HERC2	15	28491924	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08		28491924	74039468	104	46380											
VPS39	23339	broad.mit.edu	37	chr15	42470746	42470746	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatatcgaggcaacactgcAatgatgtagggaggctggtg	12	8	14	7	1	0	1	0	1	0	0	1	3	0	2	0	4	2	4	0	4	4	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr15:42470746A>C	ENST00000318006.5	-	9	903	c.741T>G	c.(739-741)atT>atG	p.I247M	VPS39_ENST00000348544.4_Missense_Mutation_p.I258M	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	258	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GCAACACTGCAATGATGTAGG	0.478													10	60					0	0	0	0	C	42470746	A	C	42470746	3	2	259	1	0	0	0	0	1	0	0	0	17305	126	5	5	1954	5	VPS39	15	42470746	Missense_Mutation	SNP	A	TCGA-CV-6945-01A-11D-1912-08	13978822	42470746	60060646	105	46381											
CATSPER2	117155	broad.mit.edu	37	chr15	43927557	43927557	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttcacatacatactcctaaCctgtcctctattttgctatg	9	16	4	12	0	2	0	1	0	1	0	4	0	4	0	3	0	4	2	3	0	5	8			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr15:43927557C>G	ENST00000396879.1	-	11	1291		c.e11+1		STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Splice_Site|CATSPER2_ENST00000355438.2_Splice_Site|CATSPER2_ENST00000321596.5_Splice_Site|CATSPER2_ENST00000354127.4_Splice_Site			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2						cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ATACTCCTAACCTGTCCTCTA	0.368											OREG0003957	type=REGULATORY REGION|Gene=AK093318|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	23	298					0	0	0	0	G	43927557	C	G	43927557	5	3	259	1	0	0	0	0	0	0	1	0	2713	521	18	4	429	4	CATSPER2	15	43927557	Splice_Site	SNP	C	TCGA-CV-6945-01A-11D-1912-08	1456811	43927557	58603835	106	46382											
CYP1A2	1544	broad.mit.edu	37	chr15	75047386	75047386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgaccatgaagcacgcccGctgtgaacatgtccaggcgc	9	6	12	14	3	0	3	0	3	0	0	1	3	1	3	3	1	2	3	3	1	2	0			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr15:75047386G>T	ENST00000343932.4	+	7	1571	c.1508G>T	c.(1507-1509)cGc>cTc	p.R503L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	503					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AAGCACGCCCGCTGTGAACAT	0.627													7	34					0.00307968	0.00679194	1	0	T	75047386	G	T	75047386	3	4	259	1	0	0	0	0	1	0	0	0	4182	1087	38	3	1530	3	CYP1A2	15	75047386	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	31119829	75047386	27484006	107	46383											
PLK1	5347	broad.mit.edu	37	chr16	23700835	23700835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcaccctccttaaatatttCcgcaattacatgagcgagca	13	11	5	12	2	1	1	1	1	0	0	3	2	3	1	3	0	3	2	3	0	5	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr16:23700835C>T	ENST00000300093.4	+	9	1557	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	482					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TTAAATATTTCCGCAATTACA	0.552													34	66					0	0	0	0	T	23700835	C	T	23700835	2	4	259	1	0	0	0	0	0	0	0	1	12166	854	30	2		2	PLK1	16	23700835	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08		23700835	66653918	108	46384											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53675283	53675283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgaaatttcctaagtcttCagttgttattgatccacttg	11	17	6	7	0	2	2	1	2	1	0	4	2	4	2	2	0	0	2	2	0	4	7			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr16:53675283C>T	ENST00000262135.4	-	18	2881	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E930K|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E930K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E930K	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	930					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CCTAAGTCTTCAGTTGTTATT	0.403													19	47					0	0	0	0	T	53675283	C	T	53675283	3	4	259	1	0	0	0	0	1	0	0	0	13635	835	29	2	1199	2	RPGRIP1L	16	53675283	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	29974448	53675283	36679470	109	46385											
PDPR	55066	broad.mit.edu	37	chr16	70164400	70164400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttactggagtggagaccGataaaggacagattgaatgc	15	8	13	5	1	0	3	0	1	0	2	0	7	0	5	1	3	2	1	1	3	5	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr16:70164400G>T	ENST00000288050.4	+	7	1639	c.682G>T	c.(682-684)Gat>Tat	p.D228Y	PDPR_ENST00000398122.3_Missense_Mutation_p.D128Y|PDPR_ENST00000568530.1_Missense_Mutation_p.D228Y	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	228					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AGTGGAGACCGATAAAGGACA	0.423													7	111					0.000274275	0.000632227	1	0	T	70164400	G	T	70164400	3	4	259	1	0	0	0	0	1	0	0	0	11760	1058	37	3	700	3	PDPR	16	70164400	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	16489117	70164400	20190353	110	46386											
CNTNAP4	85445	broad.mit.edu	37	chr16	76496003	76496003	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcacctattattttggagGtaagaataggtgccaggctc	10	12	12	7	0	0	1	0	0	0	1	1	2	0	2	2	5	1	3	2	5	5	6			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr16:76496003G>A	ENST00000307431.8	+	10	1865		c.e10+1		CNTNAP4_ENST00000377504.4_Splice_Site|CNTNAP4_ENST00000478060.1_Splice_Site|CNTNAP4_ENST00000476707.1_Splice_Site|CNTNAP4_ENST00000469589.1_Splice_Site	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4						cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TATTTTGGAGGTAAGAATAGG	0.473													8	25					0	0	0	0	A	76496003	G	A	76496003	5	1	259	1	0	0	0	0	0	0	1	0	3679	1275	44	4	1531	4	CNTNAP4	16	76496003	Splice_Site	SNP	G	TCGA-CV-6945-01A-11D-1912-08	6331603	76496003	13858750	111	46387											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:7578271T>A	ENST00000420246.2	-	6	710	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000269305.4_Missense_Mutation_p.H193L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			29	19					0	0	0	0	A	7578271	T	A	7578271	3	1	259	1	0	0	0	0	1	0	0	0	16476	1464	51	5	716	5	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-CV-6945-01A-11D-1912-08		7578271	73616939	112	46388											
MPRIP	23164	broad.mit.edu	37	chr17	17078662	17078662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgcggacgctgctgactgGggacggcggtggggaggcca	5	6	21	9	4	0	1	0	1	0	0	0	4	0	4	1	8	2	3	1	8	0	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:17078662G>A	ENST00000395811.5	+	19	2734	c.2645G>A	c.(2644-2646)gGg>gAg	p.G882E	MPRIP_ENST00000395804.3_Missense_Mutation_p.G882E|MPRIP_ENST00000341712.4_Missense_Mutation_p.G882E|MPRIP_ENST00000444976.1_Missense_Mutation_p.G844E|RP11-45M22.3_ENST00000584203.1_RNA	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	882						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGCTGACTGGGGACGGCGGT	0.632													10	32					0	0	0	0	A	17078662	G	A	17078662	3	1	259	1	0	0	0	0	1	0	0	0	9813	1232	43	4	2719	4	MPRIP	17	17078662	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	9500391	17078662	64116548	113	46389											
FLII	2314	broad.mit.edu	37	chr17	18155350	18155350	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtagcaggagaggcaccCgctagccgcagctggttctg	8	6	15	12	3	1	1	0	0	1	1	1	2	1	1	2	4	3	7	2	4	2	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:18155350C>A	ENST00000327031.4	-	11	1434	c.1209G>T	c.(1207-1209)gcG>gcT	p.A403A	FLII_ENST00000578558.1_Silent_p.A403A|FLII_ENST00000545457.2_Silent_p.A349A|FLII_ENST00000579294.1_Silent_p.A392A|FLII_ENST00000379450.4_Silent_p.A318A	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	403	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GAGAGGCACCCGCTAGCCGCA	0.637													50	100					4.00472e-15	1.06792e-14	1	0	A	18155350	C	A	18155350	2	1	259	1	0	0	0	0	0	0	0	1	5970	639	23	3		3	FLII	17	18155350	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	1076688	18155350	63039860	114	46390											
C17orf66	256957	broad.mit.edu	37	chr17	34192401	34192401	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaactcttcctttggcatCtgggggttgcaagtggcaga	8	11	14	8	0	2	1	0	0	2	1	3	2	3	2	1	5	2	4	1	5	2	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:34192401C>A	ENST00000311880.2	-	3	287		c.e3-1		C17orf66_ENST00000587585.1_Splice_Site|C17orf66_ENST00000592980.1_Splice_Site	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66								binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCTTTGGCATCTGGGGGTTGC	0.562													13	19					0.00136819	0.0030504	1	0	A	34192401	C	A	34192401	5	1	259	1	0	0	0	0	0	0	1	0	1889	927	32	2	1626	2	C17orf66	17	34192401	Splice_Site	SNP	C	TCGA-CV-6945-01A-11D-1912-08	16037051	34192401	47002809	115	46391											
KRT13	3860	broad.mit.edu	37	chr17	39658642	39658642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacttggcgtcctggccctCgagcaggctgcggtaggtgg	4	9	16	12	3	0	0	0	0	0	0	2	1	1	0	2	6	3	3	2	6	2	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:39658642C>T	ENST00000246635.3	-	6	1274	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.E410K|KRT13_ENST00000336861.3_Missense_Mutation_p.E410K	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	410	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCCTGGCCCTCGAGCAGGCTG	0.592													40	119					0	0	0	0	T	39658642	C	T	39658642	3	4	259	1	0	0	0	0	1	0	0	0	8502	893	31	1	160	1	KRT13	17	39658642	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	5466241	39658642	41536568	116	46392											
C17orf53	78995	broad.mit.edu	37	chr17	42230139	42230145	+	Splice_Site	DEL	GCGCAAG	GCGCAAG	-																															tacagcattgtcatggtgctGcgcaaggtaaggattctggg																										TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:42230139_42230145delGCGCAAG	ENST00000319977.4	+	5	1680_1686	c.1449_splice	c.e5+1	p.LRK481_splice	C17orf53_ENST00000245382.6_Intron|C17orf53_ENST00000585683.1_Splice_Site_p.LRK481_splice	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	481								p.R482L(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCATGGTGCTGCGCAAGGTAAGGATTC	0.541													14	82	---	---	---	---					-	42230145	GCGCAAG	-	42230139	8	5	259	1	0	1	0	1	0	0	1	0	1877	1306	46	0	1461	0	C17orf53	17	42230139	Splice_Site	DEL	GCGCAAG	TCGA-CV-6945-01A-11D-1912-08	2571497	42230139	38965071	117	46393											
CCDC40	55036	broad.mit.edu	37	chr17	78059875	78059875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgagcacgatggcaaggCggtccaggcccaggtgacct	9	4	15	13	4	0	1	0	1	0	0	1	4	1	1	3	5	1	2	3	5	1	0			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:78059875C>A	ENST00000397545.4	+	14	2336	c.2309C>A	c.(2308-2310)gCg>gAg	p.A770E	CCDC40_ENST00000374877.3_Missense_Mutation_p.A770E	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	770					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GATGGCAAGGCGGTCCAGGCC	0.587													6	55					3.59834e-05	8.38926e-05	1	0	A	78059875	C	A	78059875	3	1	259	1	0	0	0	0	1	0	0	0	2838	768	27	3	2363	3	CCDC40	17	78059875	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	35829736	78059875	3135335	118	46394											
DAPK3	1613	broad.mit.edu	37	chr19	3964890	3964890	+	Frame_Shift_Del	DEL	A	A	-																															atctcctcccggctcaccccAcgccggctggatgacaggcg																										TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:3964890delA	ENST00000545797.2	-	3	405	c.162delT	c.(160-162)cgfs	p.R54fs	DAPK3_ENST00000301264.3_Frame_Shift_Del_p.R54fs			O43293	DAPK3_HUMAN	death-associated protein kinase 3	54	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCACCCCACGCCGGCTGG	0.632													18	58	---	---	---	---					-	3964890	A	-	3964890	7	5	259	1	0	1	0	1	0	0	0	0	4270	146	6	0	1230	0	DAPK3	19	3964890	Frame_Shift_Del	DEL	A	TCGA-CV-6945-01A-11D-1912-08		3964890	55164093	119	46395											
C19orf12	83636	broad.mit.edu	37	chr19	30193700	30193700	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgctgctgcagggcCtcgctgcccatgaccagcgc	6	6	13	16	2	0	1	0	1	0	0	1	1	0	1	3	1	7	6	3	1	0	0			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:30193700C>T	ENST00000592153.1	-	4	400		c.e4-1		C19orf12_ENST00000323670.9_Silent_p.E115E|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392278.2_Silent_p.E126E|C19orf12_ENST00000392276.1_Silent_p.E51E	NM_001256046.1	NP_001242975.1	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12							integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GCTGCAGGGCCTCGCTGCCCA	0.642													10	22					0	0	0	0	T	30193700	C	T	30193700	5	4	259	1	0	0	0	0	0	0	1	0	1927	680	24	4	84	4	C19orf12	19	30193700	Splice_Site	SNP	C	TCGA-CV-6945-01A-11D-1912-08	26228810	30193700	28935283	120	46396											
ATP4A	495	broad.mit.edu	37	chr19	36046418	36046418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccatctcggggtgggtgCgcagggcctcgaccagttcc	6	7	14	14	3	1	0	0	0	1	0	4	1	2	0	4	4	1	2	4	4	0	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:36046418C>T	ENST00000262623.3	-	14	2109	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	694					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGGGTGGGTGCGCAGGGCCTC	0.652													11	30					0	0	0	0	T	36046418	C	T	36046418	3	4	259	1	0	0	0	0	1	0	0	0	1149	768	27	1	1062	1	ATP4A	19	36046418	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	5852718	36046418	23082565	121	46397											
CATSPERG	57828	broad.mit.edu	37	chr19	38860883	38860883	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccactcagtcccaagcgggcCcttttcatcatcatggtgag	8	10	9	14	1	4	1	4	1	0	0	5	1	5	1	3	2	1	0	3	2	1	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:38860883C>A	ENST00000409235.3	+	28	3313	c.3198C>A	c.(3196-3198)gcC>gcA	p.A1066A	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.A1026A	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1066					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCAAGCGGGCCCTTTTCATCA	0.597													13	18					4.3838e-07	1.05211e-06	1	0	A	38860883	C	A	38860883	2	1	259	1	0	0	0	0	0	0	0	1	2717	610	22	4		4	CATSPERG	19	38860883	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	2814465	38860883	20268100	122	46398											
ARHGAP35	2909	broad.mit.edu	37	chr19	47503647	47503647	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacctctccatctgcttctGgcccaccttgatgagacctg	7	11	8	15	0	3	2	0	2	3	1	4	4	3	2	5	1	2	1	5	1	1	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:47503647G>A	ENST00000404338.3	+	6	4202	c.4202G>A	c.(4201-4203)tGg>tAg	p.W1401*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1401	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										ATCTGCTTCTGGCCCACCTTG	0.542													36	241					0	0	0	0	A	47503647	G	A	47503647	4	1	259	1	0	0	0	0	0	1	0	0	6845	1357	47	4	4224	4	ARHGAP35	19	47503647	Nonsense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	8642764	47503647	11625336	123	46399											
LILRB1	10859	broad.mit.edu	37	chr19	55143396	55143396	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctcctaggagcctacatCaaacccaccctctcagccca	10	8	4	19	0	3	0	2	0	2	0	6	1	4	1	5	1	4	0	5	1	3	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:55143396C>G	ENST00000396331.1	+	6	726	c.369C>G	c.(367-369)atC>atG	p.I123M	LILRB1_ENST00000448689.1_Missense_Mutation_p.I123M|LILRB1_ENST00000434867.2_Missense_Mutation_p.I123M|LILRB1_ENST00000396327.3_Missense_Mutation_p.I123M|LILRB1_ENST00000427581.2_Missense_Mutation_p.I159M|LILRB1_ENST00000324602.7_Missense_Mutation_p.I123M|LILRB1_ENST00000418536.2_Missense_Mutation_p.I123M|LILRB1_ENST00000396317.1_Missense_Mutation_p.I123M|LILRB1_ENST00000396332.4_Missense_Mutation_p.I123M|LILRB1_ENST00000396321.2_Missense_Mutation_p.I123M|LILRB1_ENST00000396315.1_Missense_Mutation_p.I123M	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	123	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GAGCCTACATCAAACCCACCC	0.582										HNSCC(37;0.09)			18	101					0	0	0	0	G	55143396	C	G	55143396	3	3	259	1	0	0	0	0	1	0	0	0	8844	816	29	2	383	2	LILRB1	19	55143396	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	7639749	55143396	3985587	124	46400											
NLRP2	55655	broad.mit.edu	37	chr19	55493571	55493571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatattgaagacgaagttcCgggagatgtggaagagctgg	13	9	15	4	2	0	4	0	1	0	3	1	7	1	5	1	3	1	2	1	3	5	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:55493571C>T	ENST00000543010.1	+	6	648	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	NLRP2_ENST00000448584.2_Missense_Mutation_p.R169W|NLRP2_ENST00000391721.4_Missense_Mutation_p.R145W|NLRP2_ENST00000339757.7_Missense_Mutation_p.R147W|NLRP2_ENST00000427260.2_Missense_Mutation_p.R146W|NLRP2_ENST00000263437.6_Missense_Mutation_p.R166W|NLRP2_ENST00000538819.1_Missense_Mutation_p.R145W|NLRP2_ENST00000537859.1_Missense_Mutation_p.R147W	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	169					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACGAAGTTCCGGGAGATGTG	0.483													96	162					0	0	0	0	T	55493571	C	T	55493571	3	4	259	1	0	0	0	0	1	0	0	0	10547	643	23	1	523	1	NLRP2	19	55493571	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	350175	55493571	3635412	125	46401											
NLRP4	147945	broad.mit.edu	37	chr19	56370340	56370340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccaactgtcccaagagatAaagcagcaaattcaccagtg	15	8	7	11	0	1	1	1	0	0	1	3	2	3	1	3	0	3	2	3	0	5	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:56370340A>G	ENST00000301295.6	+	3	2003	c.1581A>G	c.(1579-1581)atA>atG	p.I527M	NLRP4_ENST00000346986.5_Missense_Mutation_p.I527M|NLRP4_ENST00000587891.1_Missense_Mutation_p.I452M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	527							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCCAAGAGATAAAGCAGCAAA	0.428													15	70					0	0	0	0	G	56370340	A	G	56370340	3	3	259	1	0	0	0	0	1	0	0	0	10549	352	13	5	1587	5	NLRP4	19	56370340	Missense_Mutation	SNP	A	TCGA-CV-6945-01A-11D-1912-08	876769	56370340	2758643	126	46402											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596681	58596681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcctccgtaggcagctcagGcagcacccccgcgggggcgg	5	3	16	17	5	1	0	1	0	0	0	2	0	2	0	4	5	2	5	4	5	1	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:58596681G>A	ENST00000240727.6	-	7	1303	c.904C>T	c.(904-906)Cct>Tct	p.P302S	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.P358S|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.P302S|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.P166S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	302					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCAGCTCAGGCAGCACCCCC	0.741													8	10					0	0	0	0	A	58596681	G	A	58596681	3	1	259	1	0	0	0	0	1	0	0	0	18322	1203	42	4	632	4	ZSCAN18	19	58596681	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	2226341	58596681	532302	127	46403											
MZF1	7593	broad.mit.edu	37	chr19	59073763	59073763	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcccaggccgcactcaccGcagtggtagggcttttcgcc	7	7	12	15	3	1	0	1	0	0	0	2	0	1	0	4	3	1	4	4	3	2	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:59073763G>A	ENST00000215057.2	-	6	2441	c.1881C>T	c.(1879-1881)tgC>tgT	p.C627C	AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Silent_p.C627C|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	627					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CGCACTCACCGCAGTGGTAGG	0.672													8	14					0	0	0	0	A	59073763	G	A	59073763	2	1	259	1	0	0	0	0	0	0	0	1	10178	1079	38	1		1	MZF1	19	59073763	Silent	SNP	G	TCGA-CV-6945-01A-11D-1912-08	477082	59073763	55220	128	46404											
MMP24	10893	broad.mit.edu	37	chr20	33855127	33855127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccccctcggccgcccctcGgggaccggccatccacacca	5	3	11	22	4	0	0	0	0	0	0	3	1	1	1	9	5	0	0	9	5	0	0			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr20:33855127G>A	ENST00000246186.6	+	6	1184	c.1099G>A	c.(1099-1101)Ggg>Agg	p.G367R	MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	367					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCGCCCCTCGGGGACCGGCC	0.637													4	12					0	0	0	0	A	33855127	G	A	33855127	3	1	259	1	0	0	0	0	1	0	0	0	9731	1116	39	1	871	1	MMP24	20	33855127	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08		33855127	29170393	129	46405											
RBM11	54033	broad.mit.edu	37	chr21	15599442	15599442	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgttccagatcttgaggctgGacccagctcatataaatgga	11	11	10	9	0	2	2	1	1	1	1	3	4	3	4	2	3	1	3	2	3	3	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:15599442G>C	ENST00000400577.3	+	5	683	c.674G>C	c.(673-675)gGa>gCa	p.G225A	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	225							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CTTGAGGCTGGACCCAGCTCA	0.423													42	229					0	0	0	0	C	15599442	G	C	15599442	3	2	259	1	0	0	0	0	1	0	0	0	13194	1174	41	2	692	2	RBM11	21	15599442	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08		15599442	32530453	130	46406			1	69		4	4	158	G		6.498403e-11
RBM11	54033	broad.mit.edu	37	chr21	15599531	15599531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagacaaaagcaaacaagtGatagtgatagtagcacagac	20	5	10	6	0	0	4	0	2	0	2	0	5	0	4	0	0	3	3	0	0	7	3			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:15599531G>A	ENST00000400577.3	+	5	772	c.763G>A	c.(763-765)Gat>Aat	p.D255N	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	255							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GCAAACAAGTGATAGTGATAG	0.388													22	130					0	0	0	0	A	15599531	G	A	15599531	3	1	259	1	0	0	0	0	1	0	0	0	13194	1290	45	2	781	2	RBM11	21	15599531	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	89	15599531	32530364	131	46407			1	69		4	4	158	G		6.498403e-11
RBM11	54033	broad.mit.edu	37	chr21	15599567	15599567	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaacaacagaggcaacGaatgtagccaaaagttccga	18	4	9	10	2	0	2	0	0	0	2	1	4	1	2	2	1	4	3	2	1	7	2	rs61733445		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:15599567G>T	ENST00000400577.3	+	5	808	c.799G>T	c.(799-801)Gaa>Taa	p.E267*	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	267							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CAGAGGCAACGAATGTAGCCA	0.358													15	86					2.98522e-18	8.11979e-18	1	0	T	15599567	G	T	15599567	4	4	259	1	0	0	0	0	0	1	0	0	13194	1059	37	3	817	3	RBM11	21	15599567	Nonsense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	36	15599567	32530328	132	46408			1	69		4	4	158	G		6.498403e-11
RBM11	54033	broad.mit.edu	37	chr21	15599599	15599599	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttccgaaagtctaagaaGaagaaaagatactagtatta	20	9	8	4	1	1	4	0	0	1	4	2	5	2	4	1	0	1	2	1	0	11	6			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:15599599G>A	ENST00000400577.3	+	5	840	c.831G>A	c.(829-831)aaG>aaA	p.K277K	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	277							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AGTCTAAGAAGAAGAAAAGAT	0.328													12	62					0	0	0	0	A	15599599	G	A	15599599	2	1	259	1	0	0	0	0	0	0	0	1	13194	933	33	2		2	RBM11	21	15599599	Silent	SNP	G	TCGA-CV-6945-01A-11D-1912-08	32	15599599	32530296	133	46409			1	69		4	4	158	G		6.498403e-11
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744390	31744390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctatagagagaggaacccaGctggcaggtgctgggagagc	11	5	16	9	0	0	3	0	0	0	3	0	6	0	4	2	4	4	3	2	4	3	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:31744390G>T	ENST00000399889.2	-	1	167	c.142C>A	c.(142-144)Ctg>Atg	p.L48M		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	48	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GAGGAACCCAGCTGGCAGGTG	0.602													25	72					1.64293e-13	4.35271e-13	1	0	T	31744390	G	T	31744390	3	4	259	1	0	0	0	0	1	0	0	0	8575	962	34	4	389	4	KRTAP13-2	21	31744390	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	16144791	31744390	16385505	134	46410											
CELSR1	9620	broad.mit.edu	37	chr22	46860111	46860111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccccctccacgaagaGggccagcagcggggacagga	10	1	15	15	2	0	1	0	0	0	1	1	4	1	3	5	5	2	1	5	5	1	0			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr22:46860111G>A	ENST00000262738.3	-	2	3675	c.3676C>T	c.(3676-3678)Ctc>Ttc	p.L1226F	CELSR1_ENST00000395964.1_Missense_Mutation_p.L1226F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1226					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCACGAAGAGGGCCAGCAGC	0.602													12	39					0	0	0	0	A	46860111	G	A	46860111	3	1	259	1	0	0	0	0	1	0	0	0	3250	1000	35	4	5504	4	CELSR1	22	46860111	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08		46860111	4444455	135	46411											
ZBED4	9889	broad.mit.edu	37	chr22	50279257	50279257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaccaatgagaagttttaCgattctcacccagttgccaa	13	10	7	11	1	1	1	1	1	1	1	2	4	1	1	3	0	2	2	3	0	4	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr22:50279257C>T	ENST00000216268.4	+	2	2424	c.1947C>T	c.(1945-1947)taC>taT	p.Y649Y		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	649						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGAAGTTTTACGATTCTCACC	0.493													16	48					0	0	0	0	T	50279257	C	T	50279257	2	4	259	1	0	0	0	0	0	0	0	1	17615	547	19	1		1	ZBED4	22	50279257	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	3419146	50279257	1025309	136	46412											
SHANK3	85358	broad.mit.edu	37	chr22	51137137	51137137	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcagcattggggagggCggtttctgggagggaaccgt	6	9	19	7	2	2	0	1	0	1	0	2	3	2	3	1	6	3	3	1	6	1	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr22:51137137C>T	ENST00000414786.2	+	12	1703	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	SHANK3_ENST00000445220.2_Silent_p.G507G|SHANK3_ENST00000262795.3_Silent_p.G522G			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	522										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TTGGGGAGGGCGGTTTCTGGG	0.652													8	25					0	0	0	0	T	51137137	C	T	51137137	2	4	259	1	0	0	0	0	0	0	0	1	14354	755	27	1		1	SHANK3	22	51137137	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08	857880	51137137	167429	137	46413											
ASMTL	8623	broad.mit.edu	37	chrX	1538002	1538002	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctccgggctctggtagtaCgcatcctggaacacagcagg	8	8	13	12	2	2	0	0	0	2	0	4	1	3	1	2	4	3	5	2	4	3	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:1538002C>T	ENST00000534940.1	-	10	1302	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	ASMTL_ENST00000381333.4_Silent_p.A401A|ASMTL_ENST00000416733.2_Silent_p.A341A|ASMTL_ENST00000381317.3_Silent_p.A417A	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	417	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTGGTAGTACGCATCCTGGA	0.667													7	40					0	0	0	0	T	1538002	C	T	1538002	2	4	259	1	0	0	0	0	0	0	0	1	1050	523	19	1		1	ASMTL	23	1538002	Silent	SNP	C	TCGA-CV-6945-01A-11D-1912-08		1538002	153732558	138	46414											
FAM47C	442444	broad.mit.edu	37	chrX	37027194	37027194	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccagtctccacctggaGcctccagagactggagtgtc	7	9	12	13	0	1	1	0	0	1	1	5	4	3	3	5	2	1	0	5	2	0	0			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:37027194G>A	ENST00000358047.3	+	1	763	c.711G>A	c.(709-711)gaG>gaA	p.E237E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	237										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCACCTGGAGCCTCCAGAGA	0.632													37	15					0	0	0	0	A	37027194	G	A	37027194	2	1	259	1	0	0	0	0	0	0	0	1	5618	962	34	4		4	FAM47C	23	37027194	Silent	SNP	G	TCGA-CV-6945-01A-11D-1912-08	35489192	37027194	118243366	139	46415											
NYX	60506	broad.mit.edu	37	chrX	41333914	41333915	+	Frame_Shift_Ins	INS	-	-	A																															tccagtccaggcccgtccccINSagaaccagcggccaccaccg																										TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:41333914_41333915insA	ENST00000342595.2	+	2	1664_1665	c.1208_1209insA	c.(1207-1209)cgafs	p.R403fs	NYX_ENST00000378220.1_Frame_Shift_Ins_p.R403fs	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	403					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GGCCCGTCCCCAGAACCAGCGG	0.698													6	12	---	---	---	---					A	41333915	-	A	41333914	7	5	259	1	0	1	1	0	0	0	0	0	10868	594	21	0	1214	0	NYX	23	41333914	Frame_Shift_Ins	INS	-	TCGA-CV-6945-01A-11D-1912-08	4306720	41333914	113936646	140	46416											
DUSP21	63904	broad.mit.edu	37	chrX	44703891	44703891	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgcgcatgatcaactcGccggtaggtaacatccctga	10	8	10	13	4	1	2	1	2	0	0	3	2	2	2	3	2	3	3	3	2	3	2			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:44703891G>C	ENST00000339042.4	+	1	643	c.513G>C	c.(511-513)tcG>tcC	p.S171S		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	171						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TGATCAACTCGCCGGTAGGTA	0.512													13	35					0	0	0	0	C	44703891	G	C	44703891	2	2	259	1	0	0	0	0	0	0	0	1	4856	1074	38	3		3	DUSP21	23	44703891	Silent	SNP	G	TCGA-CV-6945-01A-11D-1912-08	3369977	44703891	110566669	141	46417											
ZXDA	7789	broad.mit.edu	37	chrX	57935809	57935809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatggcccttcatgtgcGccttgaggttgtacacggtg	5	12	13	11	2	2	1	2	1	0	0	2	1	2	1	2	3	2	3	2	3	1	4			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:57935809G>A	ENST00000358697.4	-	1	1258	c.1046C>T	c.(1045-1047)gCg>gTg	p.A349V		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	349	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CTTCATGTGCGCCTTGAGGTT	0.617													16	23					0	0	0	0	A	57935809	G	A	57935809	3	1	259	1	0	0	0	0	1	0	0	0	18341	1087	38	1	1357	1	ZXDA	23	57935809	Missense_Mutation	SNP	G	TCGA-CV-6945-01A-11D-1912-08	13231918	57935809	97334751	142	46418											
AR	367	broad.mit.edu	37	chrX	66765158	66765158	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgccagtttgctgctgcTgcagcagcagcagcagcagc	7	6	14	14	2	0	0	0	0	0	0	0	0	0	0	1	1	10	10	1	1	0	1	rs72181988		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:66765158T>A	ENST00000374690.3	+	1	694	c.170T>A	c.(169-171)cTg>cAg	p.L57Q	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.L57Q|AR_ENST00000504326.1_Missense_Mutation_p.L57Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	57	Modulating.|Poly-Leu.		L -> Q (in prostate cancer).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.L57Q(3)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TTGCTGCTGCTgcagcagcag	0.667									Androgen Insensitivity Syndrome				5	19					0	0	0	0	A	66765158	T	A	66765158	3	1	259	1	0	0	0	0	1	0	0	0	838	1580	55	5	172	5	AR	23	66765158	Missense_Mutation	SNP	T	TCGA-CV-6945-01A-11D-1912-08	8829349	66765158	88505402	143	46419											
KIAA2022	340533	broad.mit.edu	37	chrX	73962796	73962796	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataacagggggctccttacgGgttacttttcttctcttttt	6	18	8	9	1	2	0	0	0	2	0	4	0	3	0	1	3	3	2	1	3	3	8			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:73962796G>C	ENST00000373468.1	-	3	2247	c.1596C>G	c.(1594-1596)acC>acG	p.T532T	KIAA2022_ENST00000055682.5_Silent_p.T532T			Q5QGS0	K2022_HUMAN	KIAA2022	532					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCTCCTTACGGGTTACTTTTC	0.418													17	9					0	0	0	0	C	73962796	G	C	73962796	2	2	259	1	0	0	0	0	0	0	0	1	8320	1219	43	4		4	KIAA2022	23	73962796	Silent	SNP	G	TCGA-CV-6945-01A-11D-1912-08	7197638	73962796	81307764	144	46420											
BEX5	340542	broad.mit.edu	37	chrX	101408934	101408934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaaactcatcatgatgatCatggtgaggagggtccccta	12	9	11	9	0	3	3	3	3	0	0	4	4	4	4	2	3	1	1	2	3	3	1			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:101408934C>T	ENST00000543160.1	-	3	605	c.304G>A	c.(304-306)Gat>Aat	p.D102N	BEX5_ENST00000333643.3_Missense_Mutation_p.D102N	NM_001159560.1	NP_001153032.1	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	102						cytoplasm				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TCATGATGATCATGGTGAGGA	0.418													36	25					0	0	0	0	T	101408934	C	T	101408934	3	4	259	1	0	0	0	0	1	0	0	0	1418	826	29	2	35	2	BEX5	23	101408934	Missense_Mutation	SNP	C	TCGA-CV-6945-01A-11D-1912-08	27446138	101408934	53861626	145	46421											
CDK11B	984	broad.mit.edu	37	chr1	1586834	1586834	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccgctcacctgtcttccatAgagtcttctcttctatacgg	6	15	6	14	2	5	1	1	0	4	1	8	1	7	1	3	1	1	1	3	1	3	6			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:1586834A>T	ENST00000407249.3	-	2	215	c.216T>A	c.(214-216)tcT>tcA	p.S72S	CDK11B_ENST00000341832.6_Silent_p.S38S|CDK11B_ENST00000317673.7_Silent_p.S72S|CDK11B_ENST00000340677.5_Silent_p.S72S			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	72					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TGTCTTCCATAGAGTCTTCTC	0.547													4	28					0	0	0	0	T	1586834	A	T	1586834	2	4	260	1	0	0	0	0	0	0	0	1	3156	435	15	5		5	CDK11B	1	1586834	Silent	SNP	A	TCGA-CV-6948-01A-11D-1912-08		1586834	247663787	1	46422											
CAMTA1	23261	broad.mit.edu	37	chr1	7798213	7798213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttctaagcagtctgtccccGagacactcagccccagtgaa	10	8	9	14	1	3	2	1	1	2	1	4	3	4	2	4	0	2	2	4	0	2	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:7798213G>A	ENST00000303635.7	+	16	4060	c.3853G>A	c.(3853-3855)Gag>Aag	p.E1285K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E1285K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTCTGTCCCCGAGACACTCAG	0.552			T	WWTR1	epitheliod hemangioendothelioma								23	14					0	0	0	0	A	7798213	G	A	7798213	3	1	260	1	0	0	0	0	1	0	0	0	2638	1059	37	1	3915	1	CAMTA1	1	7798213	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	6211379	7798213	241452408	2	46423											
AHDC1	27245	broad.mit.edu	37	chr1	27875791	27875792	+	Frame_Shift_Ins	INS	-	-	G																															gagggcgggggcaccagcttINSggggaaggtctcggctgccc																										TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:27875791_27875792insG	ENST00000374011.2	-	6	3803_3804	c.2835_2836insC	c.(2833-2838)ccagctfs	p.A946fs	AHDC1_ENST00000247087.5_Frame_Shift_Ins_p.A946fs|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	946							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGCACCAGCTTGGGGAAGGTCT	0.678													56	33	---	---	---	---					G	27875792	-	G	27875791	7	5	260	1	0	1	1	0	0	0	0	0	412	1821	63	0	1979	0	AHDC1	1	27875791	Frame_Shift_Ins	INS	-	TCGA-CV-6948-01A-11D-1912-08	20077578	27875791	221374830	3	46424											
MACF1	23499	broad.mit.edu	37	chr1	39951383	39951383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggcaactccaggagaGggctaaacaaaccttccaaa	16	4	9	12	0	0	1	0	0	0	1	2	2	2	1	4	3	3	2	4	3	6	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:39951383G>A	ENST00000564288.1	+	101	23362	c.22585G>A	c.(22585-22587)Ggg>Agg	p.G7529R	MACF1_ENST00000361689.2_Missense_Mutation_p.G5404R|MACF1_ENST00000545844.1_Missense_Mutation_p.G5404R|MACF1_ENST00000289893.4_Missense_Mutation_p.G5912R|MACF1_ENST00000567887.1_Missense_Mutation_p.G7566R|MACF1_ENST00000372915.3_Missense_Mutation_p.G7362R|MACF1_ENST00000317713.7_Missense_Mutation_p.G5404R|MACF1_ENST00000539005.1_Missense_Mutation_p.G5274R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7362					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCCAGGAGAGGGCTAAACAA	0.542													6	129					0	0	0	0	A	39951383	G	A	39951383	3	1	260	1	0	0	0	0	1	0	0	0	9209	1000	35	4	22757	4	MACF1	1	39951383	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	12075592	39951383	209299238	4	46425											
ST3GAL3	6487	broad.mit.edu	37	chr1	44365306	44365306	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcgccatgcagcggccTgagcagtacgagcgcgattc	8	5	16	12	5	0	1	0	1	0	0	1	4	0	1	2	2	5	3	2	2	1	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:44365306T>A	ENST00000262915.3	+	10	1035	c.858T>A	c.(856-858)ccT>ccA	p.P286P	ST3GAL3_ENST00000361746.4_Silent_p.P286P|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372375.2_Silent_p.P271P|ST3GAL3_ENST00000372372.2_Silent_p.P255P|ST3GAL3_ENST00000361400.4_Silent_p.P201P|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372368.2_Silent_p.P271P|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000361392.4_Silent_p.P217P|ST3GAL3_ENST00000372374.2_Silent_p.P186P|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000372369.1_Silent_p.P217P|ST3GAL3_ENST00000351035.3_Silent_p.P255P|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000533933.1_Silent_p.P217P|ST3GAL3_ENST00000353126.3_Silent_p.P217P|ST3GAL3_ENST00000531993.1_Silent_p.P201P|ST3GAL3_ENST00000332628.6_Silent_p.P186P|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000347631.2_Silent_p.P232P	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	217					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				TGCAGCGGCCTGAGCAGTACG	0.537													42	54					0	0	0	0	A	44365306	T	A	44365306	2	1	260	1	0	0	0	0	0	0	0	1	15306	1567	55	5		5	ST3GAL3	1	44365306	Silent	SNP	T	TCGA-CV-6948-01A-11D-1912-08	4413923	44365306	204885315	5	46426											
SLC6A9	6536	broad.mit.edu	37	chr1	44467092	44467094	+	In_Frame_Del	DEL	GAA	GAA	-																															agccccagcaggataagcatGaagaagaagagcagagacca																										TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:44467092_44467094delGAA	ENST00000372310.3	-	9	1333_1335	c.1168_1170delTTC	c.(1168-1170)del	p.F390del	SLC6A9_ENST00000372306.3_In_Frame_Del_p.F390del|SLC6A9_ENST00000357730.2_In_Frame_Del_p.F409del|SLC6A9_ENST00000372307.3_In_Frame_Del_p.F325del|SLC6A9_ENST00000475075.2_In_Frame_Del_p.F279del|SLC6A9_ENST00000537678.1_In_Frame_Del_p.F325del|SLC6A9_ENST00000360584.2_In_Frame_Del_p.F463del	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	463						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGATAAGCATGAAGAAGAAGAGC	0.64													29	68	---	---	---	---					-	44467094	GAA	-	44467092	7	5	260	1	0	1	0	1	0	0	0	0	14779	1281	45	0	755	0	SLC6A9	1	44467092	In_Frame_Del	DEL	GAA	TCGA-CV-6948-01A-11D-1912-08	101786	44467092	204783529	6	46427											
CC2D1B	200014	broad.mit.edu	37	chr1	52823543	52823543	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccgtgcaggtttcttggCcactggggcctgtgctgggg	2	10	19	10	1	1	0	0	0	1	0	1	0	1	0	3	7	2	3	3	7	0	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:52823543C>G	ENST00000371586.2	-	14	1645	c.1507G>C	c.(1507-1509)Gcc>Ccc	p.A503P	CC2D1B_ENST00000284376.3_Missense_Mutation_p.A497P|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	503										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGTTTCTTGGCCACTGGGGCC	0.632													30	11					0	0	0	0	G	52823543	C	G	52823543	3	3	260	1	0	0	0	0	1	0	0	0	2752	739	26	4	1113	4	CC2D1B	1	52823543	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	8356451	52823543	196427078	7	46428											
CLCA1	1179	broad.mit.edu	37	chr1	86961316	86961316	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacggagagtgatacccCagcagagtggagcactgtac	12	5	13	11	1	0	4	0	1	0	3	0	6	0	5	3	2	4	3	3	2	2	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:86961316C>T	ENST00000234701.3	+	13	2422	c.2071C>T	c.(2071-2073)Cag>Tag	p.Q691*	CLCA1_ENST00000394711.1_Nonsense_Mutation_p.Q691*			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	691					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AGTGATACCCCAGCAGAGTGG	0.448													21	7					0	0	0	0	T	86961316	C	T	86961316	4	4	260	1	0	0	0	0	0	1	0	0	3487	595	21	4	2117	4	CLCA1	1	86961316	Nonsense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	34137773	86961316	162289305	8	46429											
NBPF15	284565	broad.mit.edu	37	chr1	148594407	148594407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttccaggctctacggcGtgctgatggaagtggaagag	8	10	14	9	2	1	2	0	1	1	1	2	4	2	4	2	4	2	2	2	4	3	3	rs144416833	byFrequency	TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:148594407G>A	ENST00000442702.2	+	21	2847	c.1780G>A	c.(1780-1782)Gtg>Atg	p.V594M	NBPF15_ENST00000369187.3_Missense_Mutation_p.V594M	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	594	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					GCTCTACGGCGTGCTGATGGA	0.458													124	192					0	0	0	0	A	148594407	G	A	148594407	3	1	260	1	0	0	0	0	1	0	0	0	10265	1145	40	1	1838	1	NBPF15	1	148594407	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	61633091	148594407	100656214	9	46430											
SNX27	81609	broad.mit.edu	37	chr1	151640992	151640992	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctcacaaactctacattCagaattatacatcagctgtg	13	13	4	11	0	4	1	3	0	1	1	5	1	5	1	1	0	4	1	1	0	5	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:151640992C>T	ENST00000368843.3	+	7	1150	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*	SNX27_ENST00000368838.1_Nonsense_Mutation_p.Q251*|SNX27_ENST00000458013.2_Nonsense_Mutation_p.Q344*|SNX27_ENST00000482791.1_3'UTR	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	344	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACTCTACATTCAGAATTATAC	0.383													30	92					0	0	0	0	T	151640992	C	T	151640992	4	4	260	1	0	0	0	0	0	1	0	0	14985	827	29	2	1056	2	SNX27	1	151640992	Nonsense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	3046585	151640992	97609629	10	46431											
FLG	2312	broad.mit.edu	37	chr1	152276850	152276850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggaagcttcatggtgatgCgaccatgagtgcctggagcc	8	9	15	9	1	1	2	1	2	0	0	1	5	1	4	3	3	4	1	3	3	1	1	rs139345866		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:152276850C>T	ENST00000368799.1	-	3	10547	c.10512G>A	c.(10510-10512)tcG>tcA	p.S3504S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3504	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGTGATGCGACCATGAGT	0.577									Ichthyosis				138	227					0	0	0	0	T	152276850	C	T	152276850	2	4	260	1	0	0	0	0	0	0	0	1	5967	755	27	1		1	FLG	1	152276850	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	635858	152276850	96973771	11	46432											
LMNA	4000	broad.mit.edu	37	chr1	156106747	156106747	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattggcagatcaagcgccaGaatggagatgatcccttgct	12	9	11	9	1	1	4	1	1	0	3	2	5	2	4	2	2	2	2	2	2	3	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:156106747G>A	ENST00000368300.4	+	8	1628	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q	LMNA_ENST00000368301.2_Silent_p.Q472Q|LMNA_ENST00000392353.3_Silent_p.Q391Q|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Silent_p.Q472Q|LMNA_ENST00000473598.2_Silent_p.Q373Q|LMNA_ENST00000347559.2_Silent_p.Q472Q|LMNA_ENST00000448611.2_Silent_p.Q360Q|LMNA_ENST00000368297.1_Silent_p.Q391Q|LMNA_ENST00000368299.3_Silent_p.Q472Q	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	472	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					TCAAGCGCCAGAATGGAGATG	0.592									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				23	19					0	0	0	0	A	156106747	G	A	156106747	2	1	260	1	0	0	0	0	0	0	0	1	8903	933	33	2		2	LMNA	1	156106747	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	3829897	156106747	93143874	12	46433											
KIAA1614	57710	broad.mit.edu	37	chr1	180910242	180910242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccctttggaccagaacAagaaaaggagcagcagcata	15	5	10	11	0	0	2	0	0	0	2	0	4	0	4	3	2	5	3	3	2	5	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:180910242A>G	ENST00000367588.4	+	7	3035	c.2980A>G	c.(2980-2982)Aag>Gag	p.K994E	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K615E	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	994	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGACCAGAACAAGAAAAGGAG	0.642													6	47					0	0	0	0	G	180910242	A	G	180910242	3	3	260	1	0	0	0	0	1	0	0	0	8299	131	5	5	3006	5	KIAA1614	1	180910242	Missense_Mutation	SNP	A	TCGA-CV-6948-01A-11D-1912-08	24803495	180910242	68340379	13	46434											
TPR	7175	broad.mit.edu	37	chr1	186321170	186321170	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttcagctaacaaagactCtctttgctgagaaagacgaa	14	11	8	8	1	2	3	1	1	1	3	3	5	2	3	0	0	3	3	0	0	4	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:186321170C>G	ENST00000367478.3	-	19	2703	c.2407G>C	c.(2407-2409)Gag>Cag	p.E803Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	803					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AACAAAGACTCTCTTTGCTGA	0.318			T	NTRK1	papillary thyroid								19	100					0	0	0	0	G	186321170	C	G	186321170	3	3	260	1	0	0	0	0	1	0	0	0	16511	922	32	2	4816	2	TPR	1	186321170	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	5410928	186321170	62929451	14	46435											
LAMB3	3914	broad.mit.edu	37	chr1	209796421	209796421	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccggccctgggaaggAcacccctgcagcgggagcca	8	2	13	18	2	0	0	0	0	0	0	0	3	0	3	7	4	3	1	7	4	1	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:209796421A>C	ENST00000391911.1	-	16	2851	c.2462T>G	c.(2461-2463)gTc>gGc	p.V821G	LAMB3_ENST00000367030.3_Missense_Mutation_p.V821G|LAMB3_ENST00000356082.4_Missense_Mutation_p.V821G	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	821	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCTGGGAAGGACACCCCTGCA	0.632													44	60					0	0	0	0	C	209796421	A	C	209796421	3	2	260	1	0	0	0	0	1	0	0	0	8665	275	10	5	1084	5	LAMB3	1	209796421	Missense_Mutation	SNP	A	TCGA-CV-6948-01A-11D-1912-08	23475251	209796421	39454200	15	46436											
PTPN14	5784	broad.mit.edu	37	chr1	214542900	214542900	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacaaaaggtgcttgacCttcaagcccgtggttgcata	11	9	10	11	1	1	2	1	1	0	1	1	2	1	2	3	2	3	3	3	2	4	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:214542900C>T	ENST00000366956.5	-	17	3365	c.3171G>A	c.(3169-3171)aaG>aaA	p.K1057K	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1057	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGTGCTTGACCTTCAAGCCCG	0.478													94	204					0	0	0	0	T	214542900	C	T	214542900	2	4	260	1	0	0	0	0	0	0	0	1	12863	680	24	4		4	PTPN14	1	214542900	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	4746479	214542900	34707721	16	46437											
LEFTY2	7044	broad.mit.edu	37	chr1	226125198	226125198	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcacagctgcacttctgCaccctcatgttgggcaggct	7	9	12	13	0	2	0	1	0	1	0	2	1	2	0	1	3	3	7	1	3	0	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:226125198C>A	ENST00000366820.5	-	4	1392	c.1044G>T	c.(1042-1044)gtG>gtT	p.V348V	LEFTY2_ENST00000420304.2_Silent_p.V314V|RP4-559A3.6_ENST00000513672.1_RNA	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	348					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TGCACTTCTGCACCCTCATGT	0.617													35	59					3.11337e-16	3.98461e-16	1	0	A	226125198	C	A	226125198	2	1	260	1	0	0	0	0	0	0	0	1	8769	697	25	4		4	LEFTY2	1	226125198	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	11582298	226125198	23125423	17	46438											
LIN9	286826	broad.mit.edu	37	chr1	226454018	226454018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagcaattggcattgtctCatgaggttcattactctgag	9	13	11	8	0	3	2	2	2	2	0	4	2	3	2	0	3	2	4	0	3	2	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:226454018C>T	ENST00000328205.5	-	9	1425	c.880G>A	c.(880-882)Gag>Aag	p.E294K	LIN9_ENST00000481685.1_Missense_Mutation_p.E259K|LIN9_ENST00000366801.1_Missense_Mutation_p.E243K	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	278	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GGCATTGTCTCATGAGGTTCA	0.363													9	23					0	0	0	0	T	226454018	C	T	226454018	3	4	260	1	0	0	0	0	1	0	0	0	8868	835	29	2	824	2	LIN9	1	226454018	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	328820	226454018	22796603	18	46439											
OBSCN	84033	broad.mit.edu	37	chr1	228492963	228492963	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcagagatggggacagAtacaacctgaggcaggatgg	13	5	14	9	0	1	3	1	1	0	2	1	6	1	5	2	5	2	1	2	5	2	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:228492963A>G	ENST00000570156.2	+	54	14480	c.14406A>G	c.(14404-14406)agA>agG	p.R4802R	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Silent_p.R1479R|OBSCN_ENST00000366709.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3845					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGGGGACAGATACAACCTGA	0.567													59	89					0	0	0	0	G	228492963	A	G	228492963	2	3	260	1	0	0	0	0	0	0	0	1	10883	348	12	5		5	OBSCN	1	228492963	Silent	SNP	A	TCGA-CV-6948-01A-11D-1912-08	2038945	228492963	20757658	19	46440											
OR1C1	26188	broad.mit.edu	37	chr1	247921171	247921171	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcaggagaggattgagatCacagaagaaatgatggatga	16	7	14	4	0	1	6	1	3	0	4	1	10	1	8	0	3	1	1	0	3	2	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:247921171C>G	ENST00000408896.2	-	1	811	c.538G>C	c.(538-540)Gat>Cat	p.D180H		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGATTGAGATCACAGAAGAAA	0.483													17	29					0	0	0	0	G	247921171	C	G	247921171	3	3	260	1	0	0	0	0	1	0	0	0	11023	826	29	2	408	2	OR1C1	1	247921171	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	19428208	247921171	1329450	20	46441											
OR11L1	391189	broad.mit.edu	37	chr1	248005020	248005020	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagatgctggaggaacatgTacataggggagtgcagtcgc	12	7	16	6	1	0	1	0	0	0	1	1	5	0	4	0	4	4	3	0	4	3	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:248005020T>A	ENST00000355784.2	-	1	234	c.179A>T	c.(178-180)tAc>tTc	p.Y60F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGGAACATGTACATAGGGGA	0.547													12	21					0	0	0	0	A	248005020	T	A	248005020	3	1	260	1	0	0	0	0	1	0	0	0	11001	1638	57	5	793	5	OR11L1	1	248005020	Missense_Mutation	SNP	T	TCGA-CV-6948-01A-11D-1912-08	83849	248005020	1245601	21	46442											
OR2T12	127064	broad.mit.edu	37	chr1	248458698	248458698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatgagggaaagttggctCaggaggaagtacatgggcct	11	8	15	7	0	1	1	1	1	0	0	2	4	2	4	2	5	1	3	2	5	3	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr1:248458698C>T	ENST00000317996.1	-	1	182	c.183G>A	c.(181-183)ctG>ctA	p.L61L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AAAGTTGGCTCAGGAGGAAGT	0.552													54	58					0	0	0	0	T	248458698	C	T	248458698	2	4	260	1	0	0	0	0	0	0	0	1	11090	813	29	2		2	OR2T12	1	248458698	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	453678	248458698	791923	22	46443											
KIF3C	3797	broad.mit.edu	37	chr2	26203809	26203809	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcccccccagggagtcctgGagcagccgggtcagcttgga	6	7	14	14	1	1	0	1	0	0	0	3	3	3	3	5	4	3	2	5	4	0	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:26203809G>C	ENST00000264712.3	-	1	1557	c.978C>G	c.(976-978)ctC>ctG	p.L326L	KIF3C_ENST00000405914.1_Silent_p.L326L	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	326	Kinesin-motor.				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)					GGGAGTCCTGGAGCAGCCGGG	0.607													22	46					0	0	0	0	C	26203809	G	C	26203809	2	2	260	1	0	0	0	0	0	0	0	1	8353	1161	41	2		2	KIF3C	2	26203809	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08		26203809	216995564	23	46444											
PRKD3	23683	broad.mit.edu	37	chr2	37506980	37506980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgggggtgatggctcttCtgtgtcatccaaaccccgac	6	12	11	12	1	4	1	1	1	3	0	5	2	5	1	3	3	1	1	3	3	1	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:37506980C>T	ENST00000379066.1	-	8	1843	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	PRKD3_ENST00000234179.2_Missense_Mutation_p.E361K			O94806	KPCD3_HUMAN	protein kinase D3	361					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GATGGCTCTTCTGTGTCATCC	0.398													50	49					0	0	0	0	T	37506980	C	T	37506980	3	4	260	1	0	0	0	0	1	0	0	0	12600	922	32	2	1639	2	PRKD3	2	37506980	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	11303171	37506980	205692393	24	46445											
ABCG8	64241	broad.mit.edu	37	chr2	44099198	44099198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcactcgcagccctgtttCtagaaaaagtgcgtgactta	11	11	9	10	2	2	2	1	1	1	1	3	2	2	2	1	0	2	2	1	0	4	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:44099198C>T	ENST00000272286.2	+	7	1138	c.1048C>T	c.(1048-1050)Cta>Tta	p.L350L		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	350					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGCCCTGTTTCTAGAAAAAGT	0.537													48	72					0	0	0	0	T	44099198	C	T	44099198	2	4	260	1	0	0	0	0	0	0	0	1	72	912	32	2		2	ABCG8	2	44099198	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	6592218	44099198	199100175	25	46446											
LRPPRC	10128	broad.mit.edu	37	chr2	44162018	44162018	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtagataggtcgcccCttagaaacaaaaaaattagc	17	7	9	8	1	0	2	0	0	0	2	1	3	0	2	2	1	3	2	2	1	8	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:44162018C>A	ENST00000260665.7	-	24	2562		c.e24-1			NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing						mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAGGTCGCCCCTTAGAAACAA	0.328													23	38					2.21704e-12	2.75799e-12	1	0	A	44162018	C	A	44162018	5	1	260	1	0	0	0	0	0	0	1	0	9029	695	24	4	1740	4	LRPPRC	2	44162018	Splice_Site	SNP	C	TCGA-CV-6948-01A-11D-1912-08	62820	44162018	199037355	26	46447											
EFEMP1	2202	broad.mit.edu	37	chr2	56149558	56149558	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccagagtcagcatagttagGaaaagggctttcaacattgt	13	10	11	7	0	2	1	2	0	0	1	2	2	2	2	1	2	2	3	1	2	5	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:56149558G>A	ENST00000394555.2	-	2	453	c.18C>T	c.(16-18)ttC>ttT	p.F6F	EFEMP1_ENST00000497698.1_5'UTR|EFEMP1_ENST00000355426.3_Silent_p.F6F|EFEMP1_ENST00000394554.1_Silent_p.F6F|EFEMP1_ENST00000424836.2_5'UTR	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	6					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCATAGTTAGGAAAAGGGCTT	0.428													66	71					0	0	0	0	A	56149558	G	A	56149558	2	1	260	1	0	0	0	0	0	0	0	1	4977	1165	41	2		2	EFEMP1	2	56149558	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	11987540	56149558	187049815	27	46448											
SLC5A7	60482	broad.mit.edu	37	chr2	108626706	108626706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcttcggacaaagaaatcGtttgggttatgcgaatcaca	13	10	11	7	3	1	1	1	0	0	1	3	3	1	2	0	3	1	3	0	3	4	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:108626706G>A	ENST00000264047.2	+	9	1408	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	SLC5A7_ENST00000409059.1_Missense_Mutation_p.V378I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.V273I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	378					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.V378I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CAAAGAAATCGTTTGGGTTAT	0.443													42	60					0	0	0	0	A	108626706	G	A	108626706	3	1	260	1	0	0	0	0	1	0	0	0	14758	1145	40	1	1162	1	SLC5A7	2	108626706	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	52477148	108626706	134572667	28	46449											
LY75	4065	broad.mit.edu	37	chr2	160663608	160663608	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacttttattttcccatttGacaaatgtcacttctgatcc	9	19	3	10	0	2	2	1	2	1	0	4	2	4	2	2	0	1	0	2	0	3	7			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:160663608G>C	ENST00000263636.4	-	34	4893	c.4866C>G	c.(4864-4866)gtC>gtG	p.V1622V	LY75_ENST00000554112.1_Silent_p.V1622V|LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000505052.1_Intron|LY75-CD302_ENST00000504764.1_Silent_p.V1622V	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTTCCCATTTGACAAATGTCA	0.343													15	40					0	0	0	0	C	160663608	G	C	160663608	2	2	260	1	0	0	0	0	0	0	0	1	9164	1277	45	2		2	LY75	2	160663608	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	52036902	160663608	82535765	29	46450											
ITGB6	3694	broad.mit.edu	37	chr2	160994637	160994637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagggtaccgttgttaCagatggctgtaaatgacaag	13	9	14	5	1	0	3	0	1	0	2	0	4	0	4	1	3	2	5	1	3	6	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:160994637C>T	ENST00000283249.2	-	9	1418	c.1181G>A	c.(1180-1182)tGt>tAt	p.C394Y	ITGB6_ENST00000409967.2_Missense_Mutation_p.C394Y|ITGB6_ENST00000409872.1_Missense_Mutation_p.C394Y|ITGB6_ENST00000428609.2_Missense_Mutation_p.C352Y			P18564	ITB6_HUMAN	integrin, beta 6	394					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACCGTTGTTACAGATGGCTGT	0.428													6	134					0	0	0	0	T	160994637	C	T	160994637	3	4	260	1	0	0	0	0	1	0	0	0	7952	478	17	4	1213	4	ITGB6	2	160994637	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	331029	160994637	82204736	30	46451											
KLHL23	151230	broad.mit.edu	37	chr2	170591601	170591601	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggattttctggatgcatTcagaacattttacttggatg	10	16	10	5	0	2	1	1	0	1	1	2	4	2	4	0	3	3	1	0	3	2	6			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:170591601T>C	ENST00000392647.2	+	2	321	c.77T>C	c.(76-78)tTc>tCc	p.F26S	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.F26S	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	26										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CTGGATGCATTCAGAACATTT	0.363													5	118					0	0	0	0	C	170591601	T	C	170591601	3	2	260	1	0	0	0	0	1	0	0	0	8430	1783	62	5	79	5	KLHL23	2	170591601	Missense_Mutation	SNP	T	TCGA-CV-6948-01A-11D-1912-08	9596964	170591601	72607772	31	46452											
ITGA4	3676	broad.mit.edu	37	chr2	182387035	182387035	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actctacatgtcaaactaccCgtgggtctttatttcattaa	11	15	5	10	1	4	0	2	0	2	0	4	0	4	0	1	1	3	0	1	1	5	6			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:182387035C>T	ENST00000397033.2	+	18	2470	c.2040C>T	c.(2038-2040)ccC>ccT	p.P680P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	680					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.P680P(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TCAAACTACCCGTGGGTCTTT	0.338													25	47					0	0	0	0	T	182387035	C	T	182387035	2	4	260	1	0	0	0	0	0	0	0	1	7931	639	23	1		1	ITGA4	2	182387035	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	11795434	182387035	60812338	32	46453											
ZNF804A	91752	broad.mit.edu	37	chr2	185801843	185801843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataaaacaggacactctaGatgaaaaatacaacaaaata	25	6	4	6	0	1	2	0	1	1	1	1	3	1	3	0	1	3	0	0	1	11	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:185801843G>T	ENST00000302277.6	+	4	2314	c.1720G>T	c.(1720-1722)Gat>Tat	p.D574Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	574						intracellular	zinc ion binding	p.D574Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGACACTCTAGATGAAAAATA	0.299													20	42					3.62473e-10	4.47338e-10	1	0	T	185801843	G	T	185801843	3	4	260	1	0	0	0	0	1	0	0	0	18263	942	33	2	1734	2	ZNF804A	2	185801843	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	3414808	185801843	57397530	33	46454											
ALS2	57679	broad.mit.edu	37	chr2	202625540	202625540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttactcattttaaagtttCtaaagaaaagcccatacagt	15	13	4	9	0	2	1	1	0	1	1	2	1	2	1	2	0	3	1	2	0	8	6			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:202625540C>T	ENST00000467448.1	-	4	1316	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	ALS2_ENST00000264276.6_Intron	NM_001135745.1	NP_001129217.1	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	0					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTTAAAGTTTCTAAAGAAAAG	0.348													3	10					0	0	0	0	T	202625540	C	T	202625540	3	4	260	1	0	0	0	0	1	0	0	0	550	922	32	2	3998	2	ALS2	2	202625540	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	16823697	202625540	40573833	34	46455											
RAB17	64284	broad.mit.edu	37	chr2	238483689	238483689	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcagcatttggcctgcctCgcgggccccttgttcagagc	4	9	13	15	3	1	1	1	0	0	1	2	1	1	1	4	2	3	3	4	2	0	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:238483689C>T	ENST00000264601.3	-	6	1241	c.612G>A	c.(610-612)gcG>gcA	p.A204A	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_Silent_p.A77A|RAB17_ENST00000409822.1_Silent_p.A77A	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	204					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		TGGCCTGCCTCGCGGGCCCCT	0.642													30	39					0	0	0	0	T	238483689	C	T	238483689	2	4	260	1	0	0	0	0	0	0	0	1	12984	871	31	1		1	RAB17	2	238483689	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	35858149	238483689	4715684	35	46456											
FARP2	9855	broad.mit.edu	37	chr2	242380775	242380775	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccatcttcagcgaatgcCttttactcgctctctccctc	5	14	4	18	2	3	0	1	0	2	0	8	1	5	0	4	0	3	1	4	0	2	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr2:242380775C>G	ENST00000264042.3	+	13	1385	c.1215C>G	c.(1213-1215)gcC>gcG	p.A405A	FARP2_ENST00000545004.1_Silent_p.A405A|FARP2_ENST00000373287.4_Silent_p.A405A	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	405					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CAGCGAATGCCTTTTACTCGC	0.502													27	56					0	0	0	0	G	242380775	C	G	242380775	2	3	260	1	0	0	0	0	0	0	0	1	5722	668	24	4		4	FARP2	2	242380775	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	3897086	242380775	818598	36	46457											
EDEM1	9695	broad.mit.edu	37	chr3	5246816	5246816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggcctgggtgccgggctGgactccttctatgaatacct	6	11	13	11	1	1	1	0	1	1	0	2	2	2	2	4	4	2	1	4	4	3	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:5246816G>A	ENST00000256497.4	+	6	1240	c.1107G>A	c.(1105-1107)ctG>ctA	p.L369L	EDEM1_ENST00000445686.1_Silent_p.L174L	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	369					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GTGCCGGGCTGGACTCCTTCT	0.453													62	29					0	0	0	0	A	5246816	G	A	5246816	2	1	260	1	0	0	0	0	0	0	0	1	4947	1335	47	4		4	EDEM1	3	5246816	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08		5246816	192775614	37	46458											
GRIP2	80852	broad.mit.edu	37	chr3	14565164	14565164	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctccttgtagagggagaCgtccactgtctttgaaatga	9	11	11	10	1	1	4	0	2	1	2	3	5	3	4	3	1	0	1	3	1	2	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:14565164C>T	ENST00000273083.3	-	0	510							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TAGAGGGAGACGTCCACTGTC	0.498													7	3					0	0	0	0	T	14565164	C	T	14565164	1	4	260	0	1	0	0	0	0	0	0	0	6838	536	19	1		1	GRIP2	3	14565164	RNA	SNP	C	TCGA-CV-6948-01A-11D-1912-08	9318348	14565164	183457266	38	46459											
DALRD3	55152	broad.mit.edu	37	chr3	49053902	49053902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagcatctcaaacttgatgGtggccacagagagaacacca	14	7	9	11	0	2	3	2	1	1	2	3	4	2	3	2	2	3	1	2	2	2	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:49053902G>A	ENST00000440857.1	-	9	1307	c.605C>T	c.(604-606)aCc>aTc	p.T202I	DALRD3_ENST00000441576.2_Missense_Mutation_p.T369I|DALRD3_ENST00000395462.4_Missense_Mutation_p.T202I|DALRD3_ENST00000313778.5_Missense_Mutation_p.T202I|DALRD3_ENST00000341949.4_Missense_Mutation_p.T369I			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	369					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAACTTGATGGTGGCCACAGA	0.577													22	8					0	0	0	0	A	49053902	G	A	49053902	3	1	260	1	0	0	0	0	1	0	0	0	4262	1261	44	4	545	4	DALRD3	3	49053902	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	34488738	49053902	148968528	39	46460											
CCDC36	339834	broad.mit.edu	37	chr3	49278823	49278823	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaaaagacaaatgtgacagGtatgtaaacctttcaaatgg	17	9	9	6	0	1	2	1	1	0	1	1	2	1	2	1	2	1	3	1	2	7	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:49278823G>T	ENST00000438782.1	+	4	631		c.e4+1		CCDC36_ENST00000366429.2_Splice_Site|CCDC36_ENST00000296449.5_Splice_Site|CCDC36_ENST00000451634.2_Splice_Site|CCDC36_ENST00000452691.2_Splice_Site			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36											endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AATGTGACAGGTATGTAAACC	0.343													13	6					1.05317e-09	1.28951e-09	1	0	T	49278823	G	T	49278823	5	4	260	1	0	0	0	0	0	0	1	0	2834	1275	44	4	406	4	CCDC36	3	49278823	Splice_Site	SNP	G	TCGA-CV-6948-01A-11D-1912-08	224921	49278823	148743607	40	46461											
KIAA2018	205717	broad.mit.edu	37	chr3	113375182	113375182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgacggtcaattggtggggGgccagtgttttgactaattc	7	14	14	6	1	1	2	1	2	0	0	2	2	1	2	1	5	0	1	1	5	2	6			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:113375182G>A	ENST00000316407.4	-	7	5757	c.5347C>T	c.(5347-5349)Ccc>Tcc	p.P1783S	KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1783S|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1783					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATTGGTGGGGGGCCAGTGTTT	0.418													99	260					0	0	0	0	A	113375182	G	A	113375182	3	1	260	1	0	0	0	0	1	0	0	0	8319	1232	43	4	1394	4	KIAA2018	3	113375182	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	64096359	113375182	84647248	41	46462											
PIK3R4	30849	broad.mit.edu	37	chr3	130425836	130425836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acaaatgccagcagaggactCggaacgaggaggtttcccag	13	5	13	10	2	0	1	0	0	0	1	2	5	1	4	2	4	3	2	2	4	2	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:130425836C>G	ENST00000356763.3	-	11	3234	c.2677G>C	c.(2677-2679)Gag>Cag	p.E893Q		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	893					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						GCAGAGGACTCGGAACGAGGA	0.502													3	53					0	0	0	0	G	130425836	C	G	130425836	3	3	260	1	0	0	0	0	1	0	0	0	11993	893	31	3	1439	3	PIK3R4	3	130425836	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	17050654	130425836	67596594	42	46463											
PIK3CB	5291	broad.mit.edu	37	chr3	138400825	138400825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgaagatccaaaccagCttctttccagagtaaatcca	14	9	5	13	1	2	2	1	0	1	2	5	3	5	2	5	0	2	2	5	0	4	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:138400825C>T	ENST00000477593.1	-	18	2561	c.2488G>A	c.(2488-2490)Gct>Act	p.A830T	PIK3CB_ENST00000544716.1_Missense_Mutation_p.A281T|PIK3CB_ENST00000289153.2_Missense_Mutation_p.A830T			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	830	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TCCAAACCAGCTTCTTTCCAG	0.363													17	37					0	0	0	0	T	138400825	C	T	138400825	3	4	260	1	0	0	0	0	1	0	0	0	11986	797	28	4	746	4	PIK3CB	3	138400825	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	7974989	138400825	59621605	43	46464											
MRPS22	56945	broad.mit.edu	37	chr3	139069822	139069822	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctgtgtggttttagactAtgtatagccaggacaggcat	9	13	12	7	0	0	1	0	0	0	1	0	2	0	2	1	3	2	4	1	3	4	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:139069822A>G	ENST00000495075.1	+	7	1084	c.652A>G	c.(652-654)Atg>Gtg	p.M218V	MRPS22_ENST00000465056.1_Missense_Mutation_p.M217V|MRPS22_ENST00000310776.4_Missense_Mutation_p.M218V|MRPS22_ENST00000478464.1_Missense_Mutation_p.M177V			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	218						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GTTTTAGACTATGTATAGCCA	0.468													29	86					0	0	0	0	G	139069822	A	G	139069822	3	3	260	1	0	0	0	0	1	0	0	0	9903	449	16	5	670	5	MRPS22	3	139069822	Missense_Mutation	SNP	A	TCGA-CV-6948-01A-11D-1912-08	668997	139069822	58952608	44	46465											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	79					0	0	0	0	A	178936091	G	A	178936091	3	1	260	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	39866269	178936091	19086339	45	46466											
DVL3	1857	broad.mit.edu	37	chr3	183885748	183885748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggaccggagggaggccCgcaagtatgccagcaacctg	10	4	14	13	3	1	0	1	0	0	0	1	3	1	3	4	4	3	3	4	4	3	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:183885748C>T	ENST00000313143.3	+	13	1641	c.1393C>T	c.(1393-1395)Cgc>Tgc	p.R465C	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.R448C	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	465	DEP.			R -> P (in Ref. 1; AAB47447).	canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GAGGGAGGCCCGCAAGTATGC	0.577													41	117					0	0	0	0	T	183885748	C	T	183885748	3	4	260	1	0	0	0	0	1	0	0	0	4873	652	23	1	1443	1	DVL3	3	183885748	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	4949657	183885748	14136682	46	46467											
ABCF3	55324	broad.mit.edu	37	chr3	183907447	183907447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcggctagatggttacCggggagactttgagaccttc	8	9	14	10	2	0	3	0	1	0	3	1	5	0	3	3	4	2	2	3	4	2	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:183907447C>T	ENST00000429586.2	+	13	1401	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.R400W	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	406	ABC transporter 1.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGATGGTTACCGGGGAGACTT	0.572													20	41					0	0	0	0	T	183907447	C	T	183907447	3	4	260	1	0	0	0	0	1	0	0	0	67	643	23	1	1266	1	ABCF3	3	183907447	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	21699	183907447	14114983	47	46468											
ETV5	2119	broad.mit.edu	37	chr3	185797720	185797721	+	Frame_Shift_Ins	INS	-	-	G																															tccaggctctggaagcgaatINSggggggcgggggcggggccc																										TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr3:185797720_185797721insG	ENST00000306376.5	-	7	781_782	c.535_536insC	c.(535-537)ttcfs	p.F179fs	ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Frame_Shift_Ins_p.F179fs|ETV5_ENST00000537818.1_Frame_Shift_Ins_p.F221fs	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	179					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TGGAAGCGAATGGGGGGCGGGG	0.614			T	"TMPRSS2, SCL45A3"	Prostate								40	181	---	---	---	---					G	185797721	-	G	185797720	7	5	260	1	0	1	1	0	0	0	0	0	5320	1464	51	0	1024	0	ETV5	3	185797720	Frame_Shift_Ins	INS	-	TCGA-CV-6948-01A-11D-1912-08	1890273	185797720	12224710	48	46469											
PIGG	54872	broad.mit.edu	37	chr4	499519	499519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactgcaggcattgatgacgGggagccttcctggctttgtc	6	11	14	10	1	0	2	0	2	0	0	2	4	1	3	2	4	2	3	2	4	0	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:499519G>A	ENST00000453061.2	+	3	479	c.373G>A	c.(373-375)Ggg>Agg	p.G125R	PIGG_ENST00000509768.1_Missense_Mutation_p.G36R|PIGG_ENST00000296306.7_Missense_Mutation_p.G36R|PIGG_ENST00000536264.1_Missense_Mutation_p.G3R|PIGG_ENST00000383028.4_Intron|PIGG_ENST00000310340.5_Missense_Mutation_p.G125R|PIGG_ENST00000503111.1_Missense_Mutation_p.G36R|PIGG_ENST00000504346.1_Missense_Mutation_p.G36R	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	125					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						ATTGATGACGGGGAGCCTTCC	0.438													3	50					0	0	0	0	A	499519	G	A	499519	3	1	260	1	0	0	0	0	1	0	0	0	11960	1232	43	4	383	4	PIGG	4	499519	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08		499519	190654757	49	46470											
DCAF16	54876	broad.mit.edu	37	chr4	17805431	17805431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaggccagagggggccattCaggaattggttccagtttgg	9	9	16	7	0	1	2	1	0	0	2	2	3	2	3	3	6	0	2	3	6	1	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:17805431C>T	ENST00000382247.1	-	3	1394	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	DCAF16_ENST00000536863.1_Missense_Mutation_p.E112K	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	112						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GGGGGCCATTCAGGAATTGGT	0.493													64	55					0	0	0	0	T	17805431	C	T	17805431	3	4	260	1	0	0	0	0	1	0	0	0	4301	835	29	2	320	2	DCAF16	4	17805431	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	17305912	17805431	173348845	50	46471											
TLR1	7096	broad.mit.edu	37	chr4	38798908	38798908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttttattgacctcatCttctggcagctctggaagaa	8	14	8	11	0	4	2	1	1	3	1	4	3	4	3	2	2	2	3	2	2	3	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:38798908C>A	ENST00000308979.2	-	4	1818	c.1545G>T	c.(1543-1545)aaG>aaT	p.K515N	TLR1_ENST00000502213.2_Missense_Mutation_p.K515N	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	515					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTGACCTCATCTTCTGGCAGC	0.433													121	37					1.50762e-44	2.05645e-44	1	0	A	38798908	C	A	38798908	3	1	260	1	0	0	0	0	1	0	0	0	16043	912	32	2	819	2	TLR1	4	38798908	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	20993477	38798908	152355368	51	46472											
ATP8A1	10396	broad.mit.edu	37	chr4	42618055	42618055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtaaaattcctaccttgcGtttgtttcttgttcactgca	8	18	6	9	1	2	0	1	0	1	0	3	0	3	0	2	0	3	5	2	0	3	8			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:42618055G>A	ENST00000381668.5	-	5	635	c.404C>T	c.(403-405)aCg>aTg	p.T135M	ATP8A1_ENST00000264449.10_Missense_Mutation_p.T135M	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	135					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.T135M(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCTACCTTGCGTTTGTTTCTT	0.284													23	10					0	0	0	0	A	42618055	G	A	42618055	3	1	260	1	0	0	0	0	1	0	0	0	1196	1145	40	1	3300	1	ATP8A1	4	42618055	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	3819147	42618055	148536221	52	46473											
GRSF1	2926	broad.mit.edu	37	chr4	71702029	71702029	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtaagtagttttggaCtccttccaaaggaaatgaag	13	11	10	7	0	0	1	0	1	0	0	3	3	3	3	3	3	0	3	3	3	5	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:71702029C>T	ENST00000254799.6	-	2	477	c.360G>A	c.(358-360)gaG>gaA	p.E120E	GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000545193.1_Silent_p.E2E	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	120					mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TAGTTTTGGACTCCTTCCAAA	0.368													29	53					0	0	0	0	T	71702029	C	T	71702029	2	4	260	1	0	0	0	0	0	0	0	1	6859	564	20	4		4	GRSF1	4	71702029	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	29083974	71702029	119452247	53	46474											
PPEF2	5470	broad.mit.edu	37	chr4	76813090	76813090	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctccaggcgggccacgtAgcgccggtaccatctctgga	7	7	12	15	4	2	0	0	0	2	0	4	1	2	1	4	4	2	2	4	4	2	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:76813090A>C	ENST00000286719.7	-	3	453	c.97T>G	c.(97-99)Tac>Gac	p.Y33D	PPEF2_ENST00000510607.1_5'UTR	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	33	IQ.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CGGGCCACGTAGCGCCGGTAC	0.577													28	72					0	0	0	0	C	76813090	A	C	76813090	3	2	260	1	0	0	0	0	1	0	0	0	12379	420	15	5	2224	5	PPEF2	4	76813090	Missense_Mutation	SNP	A	TCGA-CV-6948-01A-11D-1912-08	5111061	76813090	114341186	54	46475											
PDLIM5	10611	broad.mit.edu	37	chr4	95376534	95376534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcctctgacaatctctaGtgtaagtaaactttacaaat	14	13	5	9	0	2	1	0	1	2	0	3	1	2	1	1	0	3	2	1	0	7	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:95376534G>A	ENST00000512274.1	+	2	213	c.95G>A	c.(94-96)aGt>aAt	p.S32N	PDLIM5_ENST00000450793.1_Splice_Site_p.S32_splice|PDLIM5_ENST00000318007.5_Splice_Site_p.S32_splice|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000437932.1_Splice_Site_p.S32_splice|PDLIM5_ENST00000538141.1_Splice_Site_p.S32_splice|PDLIM5_ENST00000380180.3_Splice_Site_p.S32_splice|PDLIM5_ENST00000514743.1_Splice_Site_p.S32_splice|PDLIM5_ENST00000317968.4_Splice_Site_p.S32_splice|PDLIM5_ENST00000504489.1_Splice_Site_p.S32_splice|PDLIM5_ENST00000359265.4_Splice_Site_p.S32_splice|PDLIM5_ENST00000508216.1_Splice_Site_p.S32_splice			Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	32	PDZ.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ACAATCTCTAGTGTAAGTAAA	0.428													15	11					0	0	0	0	A	95376534	G	A	95376534	3	1	260	1	0	0	0	0	1	0	0	0	11754	1043	36	4	97	4	PDLIM5	4	95376534	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	18563444	95376534	95777742	55	46476											
FBXW7	55294	broad.mit.edu	37	chr4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcatattgaacacagcGgactgctgcaacatgaccca	13	7	8	13	1	1	2	1	2	0	0	1	3	1	3	2	1	5	2	2	1	3	2	rs149680468		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								55	17					0	0	0	0	C	153247289	G	C	153247289	3	2	260	1	0	0	0	0	1	0	0	0	5814	1116	39	3	622	3	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	57870755	153247289	37906987	56	46477											
VEGFC	7424	broad.mit.edu	37	chr4	177605120	177605120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaatatgaagggacacaaCgacacacttcttcactatat	15	10	5	11	1	2	1	1	1	1	0	3	3	3	2	1	1	1	0	1	1	6	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:177605120C>T	ENST00000280193.2	-	7	1635	c.1220G>A	c.(1219-1221)cGt>cAt	p.R407H	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	407					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AGGGACACAACGACACACTTC	0.418													28	59					0	0	0	0	T	177605120	C	T	177605120	3	4	260	1	0	0	0	0	1	0	0	0	17248	536	19	1	46	1	VEGFC	4	177605120	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	24357831	177605120	13549156	57	46478											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184366790	184366790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaactggttgccaaggtGaagaaaagagggatatcgag	15	7	15	4	1	0	4	0	2	0	2	1	7	0	5	1	3	2	1	1	3	6	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr4:184366790G>A	ENST00000504169.1	+	2	582	c.375G>A	c.(373-375)gtG>gtA	p.V125V	CDKN2AIP_ENST00000302350.4_Intron|CDKN2AIP_ENST00000506835.1_Intron|CDKN2AIP_ENST00000510928.1_Silent_p.V125V	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	125					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTGCCAAGGTGAAGAAAAGAG	0.363													17	8					0	0	0	0	A	184366790	G	A	184366790	2	1	260	1	0	0	0	0	0	0	0	1	3191	1277	45	2		2	CDKN2AIP	4	184366790	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	6761670	184366790	6787486	58	46479											
CCT5	22948	broad.mit.edu	37	chr5	10256236	10256236	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaccgaacccctgattcaGacagcaaaaaccacgctggg	14	4	9	14	2	1	2	1	1	0	1	1	4	1	2	4	1	3	2	4	1	3	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:10256236G>A	ENST00000280326.4	+	4	921	c.501G>A	c.(499-501)caG>caA	p.Q167Q	CCT5_ENST00000503026.1_Silent_p.Q146Q|CCT5_ENST00000515390.1_Silent_p.Q112Q|CCT5_ENST00000506600.1_Silent_p.Q74Q|CCT5_ENST00000515676.1_Silent_p.Q129Q	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	167					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CCCTGATTCAGACAGCAAAAA	0.468													22	26					0	0	0	0	A	10256236	G	A	10256236	2	1	260	1	0	0	0	0	0	0	0	1	2985	933	33	2		2	CCT5	5	10256236	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08		10256236	170659024	59	46480											
COL4A3BP	10087	broad.mit.edu	37	chr5	74801935	74801935	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgccacccatgaatgtagtTtgtccactgggagtgggaag	9	10	13	9	0	0	1	0	1	0	0	1	3	1	3	3	2	1	2	3	2	3	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:74801935T>C	ENST00000380494.5	-	3	780	c.487A>G	c.(487-489)Aac>Gac	p.N163D	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.N35D|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.N35D	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	35					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TGAATGTAGTTTGTCCACTGG	0.378													26	4					0	0	0	0	C	74801935	T	C	74801935	3	2	260	1	0	0	0	0	1	0	0	0	3722	1841	64	5	1835	5	COL4A3BP	5	74801935	Missense_Mutation	SNP	T	TCGA-CV-6948-01A-11D-1912-08	64545699	74801935	106113325	60	46481											
ZFYVE16	9765	broad.mit.edu	37	chr5	79770505	79770505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctactttctaaaggaccaGgatttatctattttatcaac	12	17	4	8	0	4	0	1	0	3	0	4	2	4	2	1	2	2	0	1	2	7	9			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:79770505G>A	ENST00000338008.5	+	17	4497	c.4317G>A	c.(4315-4317)caG>caA	p.Q1439Q	ZFYVE16_ENST00000510158.1_Silent_p.Q1439Q|ZFYVE16_ENST00000505560.1_Silent_p.Q1439Q	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1439					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TAAAGGACCAGGATTTATCTA	0.333													29	17					0	0	0	0	A	79770505	G	A	79770505	2	1	260	1	0	0	0	0	0	0	0	1	17759	991	35	4		4	ZFYVE16	5	79770505	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	4968570	79770505	101144755	61	46482											
MEF2C	4208	broad.mit.edu	37	chr5	88018742	88018742	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgagtgctagtgcaagcTctgtaggaggaaaggaaacc	15	7	13	6	0	1	1	0	1	1	0	1	4	1	4	1	3	4	4	1	3	6	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:88018742T>C	ENST00000504921.2	-	10	1773	c.1100_splice	c.e10-1	p.G367_splice	MEF2C_ENST00000510942.1_Splice_Site_p.G359_splice|MEF2C_ENST00000514015.1_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000424173.2_Splice_Site_p.G357_splice|MEF2C_ENST00000340208.5_Splice_Site_p.G377_splice|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000514028.1_Splice_Site_p.G367_splice|MEF2C_ENST00000437473.2_Splice_Site_p.G367_splice|MEF2C_ENST00000539796.1_Splice_Site_p.G311_splice			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	367					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TAGTGCAAGCTCTGTAGGAGG	0.463										HNSCC(66;0.2)			4	7					0	0	0	0	C	88018742	T	C	88018742	5	2	260	1	0	0	0	0	0	0	1	0	9526	1565	54	5	324	5	MEF2C	5	88018742	Splice_Site	SNP	T	TCGA-CV-6948-01A-11D-1912-08	8248237	88018742	92896518	62	46483											
GPR98	84059	broad.mit.edu	37	chr5	89988434	89988434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttaggttatccaagtgCaactaactgatgcctctggt	10	15	8	8	0	1	1	0	1	1	0	2	1	2	1	2	2	4	2	2	2	5	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:89988434C>A	ENST00000405460.2	+	32	7060	c.6964C>A	c.(6964-6966)Caa>Aaa	p.Q2322K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2322	Calx-beta 16.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATCCAAGTGCAACTAACTGA	0.348													9	4					0.00829132	0.00951513	1	0	A	89988434	C	A	89988434	3	1	260	1	0	0	0	0	1	0	0	0	6771	711	25	4	7090	4	GPR98	5	89988434	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	1969692	89988434	90926826	63	46484											
APC	324	broad.mit.edu	37	chr5	112175991	112175991	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaggacctattagatgattCagatgatgatgatattgaaa	17	12	9	3	0	1	7	1	5	0	2	1	8	1	8	1	1	0	0	1	1	5	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:112175991C>G	ENST00000457016.1	+	16	5080	c.4700C>G	c.(4699-4701)tCa>tGa	p.S1567*	APC_ENST00000508376.2_Nonsense_Mutation_p.S1567*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.S1567*			P25054	APC_HUMAN	adenomatous polyposis coli	1567	Asp/Glu-rich (acidic).|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTAGATGATTCAGATGATGAT	0.358		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			32	16					0	0	0	0	G	112175991	C	G	112175991	4	3	260	1	0	0	0	0	0	1	0	0	764	838	29	2	4758	2	APC	5	112175991	Nonsense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	22187557	112175991	68739269	64	46485											
KIF3A	11127	broad.mit.edu	37	chr5	132052070	132052070	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagggtggaaagtgaaagaTtgatttttgtagcttccttt	11	15	11	4	0	0	3	0	2	0	1	1	4	1	4	1	2	1	2	1	2	4	6			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:132052070T>C	ENST00000378746.4	-	7	1039	c.821A>G	c.(820-822)aAt>aGt	p.N274S	KIF3A_ENST00000378735.1_Missense_Mutation_p.N274S|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.N274S	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	274	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGTGAAAGATTGATTTTTGT	0.398													3	80					0	0	0	0	C	132052070	T	C	132052070	3	2	260	1	0	0	0	0	1	0	0	0	8351	1493	52	5	1322	5	KIF3A	5	132052070	Missense_Mutation	SNP	T	TCGA-CV-6948-01A-11D-1912-08	19876079	132052070	48863190	65	46486											
SLC23A1	9963	broad.mit.edu	37	chr5	138707837	138707837	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaggtaattctttttactAtgcccatcccaatggggaaa	13	12	8	8	0	1	0	0	0	1	0	2	2	2	1	2	3	2	1	2	3	6	6			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:138707837A>G	ENST00000353963.3	-	14	1705	c.1667T>C	c.(1666-1668)aTa>aCa	p.I556T	SLC23A1_ENST00000348729.3_Missense_Mutation_p.I552T	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	552					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	TCTTTTTACTATGCCCATCCC	0.443													43	47					0	0	0	0	G	138707837	A	G	138707837	3	3	260	1	0	0	0	0	1	0	0	0	14550	449	16	5	145	5	SLC23A1	5	138707837	Missense_Mutation	SNP	A	TCGA-CV-6948-01A-11D-1912-08	6655767	138707837	42207423	66	46487											
PCDHB11	56125	broad.mit.edu	37	chr5	140580820	140580820	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtcaactactcgctactCccgccccaggacctgcacct	8	7	7	19	2	1	0	1	0	0	0	3	1	2	1	5	2	4	2	5	2	3	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:140580820C>A	ENST00000354757.3	+	1	1473	c.1473C>A	c.(1471-1473)ctC>ctA	p.L491L	PCDHB11_ENST00000536699.1_Silent_p.L126L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		491	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCTACTCCCGCCCCAGG	0.642													85	117					1.32003e-40	1.78492e-40	1	0	A	140580820	C	A	140580820	2	1	260	1	0	0	0	0	0	0	0	1	11607	842	30	2		2	PCDHB11	5	140580820	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	1872983	140580820	40334440	67	46488											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763371	140763371	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcttacaggagaaatatCaactttagaaggattagatt	15	12	8	6	1	1	3	1	0	0	3	2	5	1	4	0	2	2	1	0	2	7	6			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:140763371C>A	ENST00000518325.1	+	1	905	c.905C>A	c.(904-906)tCa>tAa	p.S302*	PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAATATCAACTTTAGAA	0.403													19	36					7.07596e-05	8.39933e-05	1	0	A	140763371	C	A	140763371	4	1	260	1	0	0	0	0	0	1	0	0	11630	838	29	2	907	2	PCDHGA7	5	140763371	Nonsense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	182551	140763371	40151889	68	46489											
PANK3	79646	broad.mit.edu	37	chr5	167991072	167991072	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggtaccccctccaaggcTaaagaaaataaagaaacttg	19	6	7	9	0	0	2	0	0	0	2	1	2	1	2	3	2	2	2	3	2	10	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr5:167991072T>G	ENST00000239231.6	-	4	952		c.e4-2		PANK3_ENST00000520504.1_Intron	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3						coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CCTCCAAGGCTAAAGAAAATA	0.363													44	219					0	0	0	0	G	167991072	T	G	167991072	5	3	260	1	0	0	0	0	0	0	1	0	11489	1536	53	5	494	5	PANK3	5	167991072	Splice_Site	SNP	T	TCGA-CV-6948-01A-11D-1912-08	27227701	167991072	12924188	69	46490											
RREB1	6239	broad.mit.edu	37	chr6	7211049	7211071	+	Frame_Shift_Del	DEL	CCATGAGAAGGACCCTAACAGTG	CCATGAGAAGGACCCTAACAGTG	-																															cttttcagacatatgaagatCcatgagaaggaccctaacag																								rs145494137		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:7211049_7211071delCCATGAGAAGGACCCTAACAGTG	ENST00000379938.2	+	7	975_997	c.438_460delCCATGAGAAGGACCCTAACAGTG	c.(436-462)atccfs	p.IHEKDPNSA146fs	RREB1_ENST00000379933.3_Frame_Shift_Del_p.IHEKDPNSA146fs|RREB1_ENST00000349384.6_Frame_Shift_Del_p.IHEKDPNSA146fs|RREB1_ENST00000334984.6_Frame_Shift_Del_p.IHEKDPNSA146fs	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	146					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATATGAAGATCCATGAGAAGGACCCTAACAGTGCCACAGCCAC	0.439													12	87	---	---	---	---					-	7211071	CCATGAGAAGGACCCTAACAGTG	-	7211049	7	5	260	1	0	1	0	1	0	0	0	0	13764	845	30	0	452	0	RREB1	6	7211049	Frame_Shift_Del	DEL	CCATGAGAAGGACCCTAACAGTG	TCGA-CV-6948-01A-11D-1912-08		7211049	163904018	70	46491											
FAM8A1	51439	broad.mit.edu	37	chr6	17600920	17600920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggagcaggcgggctgcGaggcgcccgaagccgcggcg	6	2	20	13	7	0	0	0	0	0	0	0	3	0	1	2	5	4	3	2	5	1	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:17600920G>A	ENST00000259963.3	+	1	335	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	94						integral to membrane		p.E94K(1)|p.E94Q(1)		endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GGCGGGCTGCGAGGCGCCCGA	0.731													18	11					0	0	0	0	A	17600920	G	A	17600920	3	1	260	1	0	0	0	0	1	0	0	0	5694	1059	37	1	282	1	FAM8A1	6	17600920	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	10389871	17600920	153514147	71	46492											
BTN3A3	10384	broad.mit.edu	37	chr6	26452390	26452390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctgttttcagaattttGaccttggagcccactgccct	7	15	7	12	0	1	2	1	1	0	1	2	3	2	3	4	1	2	1	4	1	2	6			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:26452390G>T	ENST00000244519.2	+	11	1749	c.1506G>T	c.(1504-1506)ttG>ttT	p.L502F	BTN3A3_ENST00000339789.4_Missense_Mutation_p.L460F|BTN3A3_ENST00000361232.3_Missense_Mutation_p.L453F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	502	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TCAGAATTTTGACCTTGGAGC	0.488													43	123					7.53189e-24	9.9255e-24	1	0	T	26452390	G	T	26452390	3	4	260	1	0	0	0	0	1	0	0	0	1573	1281	45	2	1540	2	BTN3A3	6	26452390	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	8851470	26452390	144662677	72	46493											
HIST1H1B	3009	broad.mit.edu	37	chr6	27835121	27835121	+	Frame_Shift_Del	DEL	C	C	-																															taaggccttcttaagggctgCcaaagaaaggccattgcgct																										TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:27835121delC	ENST00000331442.3	-	1	238	c.187delG	c.(187-189)cafs	p.A64fs		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	64	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTAAGGGCTGCCAAAGAAAGG	0.607													14	166	---	---	---	---					-	27835121	C	-	27835121	7	5	260	1	0	1	0	1	0	0	0	0	7173	739	26	0	497	0	HIST1H1B	6	27835121	Frame_Shift_Del	DEL	C	TCGA-CV-6948-01A-11D-1912-08	1382731	27835121	143279946	73	46494											
TRIM27	5987	broad.mit.edu	37	chr6	28871930	28871930	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcatggggcagatgatcaGaggagctgcacttttccctc	9	10	11	11	0	2	3	2	1	0	2	4	4	3	4	1	3	2	3	1	3	0	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:28871930G>C	ENST00000377199.3	-	8	1815	c.1459C>G	c.(1459-1461)Ctg>Gtg	p.L487V	TRIM27_ENST00000377194.3_3'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	487	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CAGATGATCAGAGGAGCTGCA	0.527			T	RET	papillary thyroid								57	63					0	0	0	0	C	28871930	G	C	28871930	3	2	260	1	0	0	0	0	1	0	0	0	16596	933	33	2	86	2	TRIM27	6	28871930	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	1036809	28871930	142243137	74	46495											
TRIM40	135644	broad.mit.edu	37	chr6	30105123	30105123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaacacatgtctcatcatGaactgaccattgaaaatgcc	14	10	6	11	0	2	4	2	4	1	0	3	4	2	4	2	0	3	0	2	0	4	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:30105123G>A	ENST00000396581.1	+	2	696	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	TRIM40_ENST00000376724.2_Missense_Mutation_p.E104K|TRIM40_ENST00000307859.4_Missense_Mutation_p.E104K			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	104						intracellular	zinc ion binding			ovary(1)	1						GTCTCATCATGAACTGACCAT	0.552													61	76					0	0	0	0	A	30105123	G	A	30105123	3	1	260	1	0	0	0	0	1	0	0	0	16610	1291	45	2	312	2	TRIM40	6	30105123	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	1233193	30105123	141009944	75	46496											
PRR3	80742	broad.mit.edu	37	chr6	30530165	30530165	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattttcacttgttcacaGacaaatccgaccgccctgtc	9	12	5	15	2	2	1	2	0	0	1	5	2	4	1	4	0	0	1	4	0	1	4	rs79542230		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:30530165G>T	ENST00000376560.3	+	4	919		c.e4-1		PRR3_ENST00000376557.3_Splice_Site|PRR3_ENST00000498336.1_Splice_Site	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3								nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						CTTGTTCACAGACAAATCCGA	0.453													77	199					7.63117e-38	1.02297e-37	1	0	T	30530165	G	T	30530165	5	4	260	1	0	0	0	0	0	0	1	0	12677	956	33	2	474	2	PRR3	6	30530165	Splice_Site	SNP	G	TCGA-CV-6948-01A-11D-1912-08	425042	30530165	140584902	76	46497											
DHX16	8449	broad.mit.edu	37	chr6	30624230	30624230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgctccaaagccagcaGcagtgtctcatatggtggag	10	8	12	11	0	1	0	1	0	1	0	3	1	2	1	2	2	5	4	2	2	2	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:30624230G>T	ENST00000376442.3	-	15	2563	c.2368C>A	c.(2368-2370)Ctg>Atg	p.L790M	DHX16_ENST00000376437.5_Missense_Mutation_p.L309M	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	790					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						AAAGCCAGCAGCAGTGTCTCA	0.547													11	51					0.000673444	0.000784424	1	0	T	30624230	G	T	30624230	3	4	260	1	0	0	0	0	1	0	0	0	4539	962	34	4	781	4	DHX16	6	30624230	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	94065	30624230	140490837	77	46498											
DST	667	broad.mit.edu	37	chr6	56481828	56481828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaatcttttcttttgtaGattctaggtaaagccctgca	11	16	7	7	0	3	2	0	1	3	1	3	2	3	2	1	1	2	3	1	1	5	8			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:56481828G>T	ENST00000370765.6	-	24	6544	c.6437C>A	c.(6436-6438)tCt>tAt	p.S2146Y	DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1532					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTTTTGTAGATTCTAGGTA	0.423													21	53					2.21704e-12	2.75799e-12	1	0	T	56481828	G	T	56481828	3	4	260	1	0	0	0	0	1	0	0	0	4819	942	33	2	13962	2	DST	6	56481828	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	25857598	56481828	114633239	78	46499											
HTR1B	3351	broad.mit.edu	37	chr6	78172918	78172918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acactgtggcaatcacaaagGcattggagagcgtggtggcc	11	7	14	9	1	1	1	1	0	0	1	1	2	1	1	1	5	1	2	1	5	2	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:78172918G>A	ENST00000369947.2	-	1	572	c.203C>T	c.(202-204)gCc>gTc	p.A68V		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	68					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	AATCACAAAGGCATTGGAGAG	0.562													74	121					0	0	0	0	A	78172918	G	A	78172918	3	1	260	1	0	0	0	0	1	0	0	0	7490	1203	42	4	973	4	HTR1B	6	78172918	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	21691090	78172918	92942149	79	46500											
SLC35F1	222553	broad.mit.edu	37	chr6	118556746	118556746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggactcatagacctggaaGcaaattatctggtggtcaag	12	10	12	7	0	3	1	2	0	1	1	3	3	3	3	1	4	1	1	1	4	5	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:118556746G>T	ENST00000360388.4	+	3	625	c.424G>T	c.(424-426)Gca>Tca	p.A142S		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	142					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		AGACCTGGAAGCAAATTATCT	0.423													23	37					1.28384e-07	1.54757e-07	1	0	T	118556746	G	T	118556746	3	4	260	1	0	0	0	0	1	0	0	0	14676	971	34	4	434	4	SLC35F1	6	118556746	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	40383828	118556746	52558321	80	46501											
TCF21	6943	broad.mit.edu	37	chr6	134210616	134210616	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgggttgaaaatggattcGaacaaggaatttgtgacttc	13	11	12	5	2	0	2	0	2	0	0	2	6	0	4	0	3	1	1	0	3	5	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:134210616G>A	ENST00000367882.4	+	1	341	c.81G>A	c.(79-81)tcG>tcA	p.S27S	TCF21_ENST00000237316.3_Silent_p.S27S|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	27					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		AAATGGATTCGAACAAGGAAT	0.577													44	57					0	0	0	0	A	134210616	G	A	134210616	2	1	260	1	0	0	0	0	0	0	0	1	15785	1045	37	1		1	TCF21	6	134210616	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	15653870	134210616	36904451	81	46502											
FBXO30	84085	broad.mit.edu	37	chr6	146126431	146126431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcttcacgtcccctaagtCtacttttttccaacacaatt	10	16	2	13	1	3	0	1	0	2	0	5	0	5	0	3	0	2	0	3	0	4	8			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr6:146126431C>T	ENST00000237281.4	-	2	1277	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	371							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TCCCCTAAGTCTACTTTTTTC	0.388													53	76					0	0	0	0	T	146126431	C	T	146126431	3	4	260	1	0	0	0	0	1	0	0	0	5785	913	32	2	1134	2	FBXO30	6	146126431	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	11915815	146126431	24988636	82	46503											
CARD11	84433	broad.mit.edu	37	chr7	2962348	2962348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcctctttggtgcatGtgtccaacgggacactctgc	5	12	12	12	1	2	0	0	0	2	0	4	1	4	1	2	3	3	2	2	3	1	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:2962348G>A	ENST00000396946.4	-	17	2592	c.2189C>T	c.(2188-2190)aCa>aTa	p.T730I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	730	PDZ.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTTGGTGCATGTGTCCAACGG	0.622			Mis		DLBCL								7	48					0	0	0	0	A	2962348	G	A	2962348	3	1	260	1	0	0	0	0	1	0	0	0	2670	1377	48	4	1311	4	CARD11	7	2962348	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08		2962348	156176315	83	46504											
RADIL	55698	broad.mit.edu	37	chr7	4917456	4917456	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcacgtactggccggcctgCctggggtccagggcgtaccg	5	6	16	14	4	0	0	0	0	0	0	1	0	1	0	5	5	4	3	5	5	2	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:4917456C>T	ENST00000399583.3	-	2	502	c.315G>A	c.(313-315)agG>agA	p.R105R	RADIL_ENST00000536091.1_Silent_p.R105R	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	105	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGCCGGCCTGCCTGGGGTCCA	0.682													38	74					0	0	0	0	T	4917456	C	T	4917456	2	4	260	1	0	0	0	0	0	0	0	1	13079	738	26	4		4	RADIL	7	4917456	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	1955108	4917456	154221207	84	46505											
FSCN1	6624	broad.mit.edu	37	chr7	5632776	5632776	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacctgggccgctaccTggcggcggacaaggacggca	8	3	15	15	4	0	0	0	0	0	0	0	2	0	2	4	6	2	2	4	6	2	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:5632776T>A	ENST00000382361.3	+	1	323	c.209T>A	c.(208-210)cTg>cAg	p.L70Q	FSCN1_ENST00000340250.6_Missense_Mutation_p.L49Q	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	70					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GGCCGCTACCTGGCGGCGGAC	0.706													4	10					0	0	0	0	A	5632776	T	A	5632776	3	1	260	1	0	0	0	0	1	0	0	0	6115	1580	55	5	211	5	FSCN1	7	5632776	Missense_Mutation	SNP	T	TCGA-CV-6948-01A-11D-1912-08	715320	5632776	153505887	85	46506											
RSPH10B	222967	broad.mit.edu	37	chr7	5968017	5968017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgatcatccttgggtctctCatatttctctggaatagagt	8	16	8	9	1	4	1	2	0	2	1	8	3	5	2	1	2	0	0	1	2	3	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:5968017C>T	ENST00000405415.1	-	19	2628	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K	RSPH10B_ENST00000404406.1_Missense_Mutation_p.E748K|RSPH10B_ENST00000337579.3_Missense_Mutation_p.E748K|RSPH10B_ENST00000441023.2_Missense_Mutation_p.E748K|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000535104.1_5'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	748										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TTGGGTCTCTCATATTTCTCT	0.443													67	172					0	0	0	0	T	5968017	C	T	5968017	3	4	260	1	0	0	0	0	1	0	0	0	13788	835	29	2	378	2	RSPH10B	7	5968017	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	335241	5968017	153170646	86	46507											
AOAH	313	broad.mit.edu	37	chr7	36633994	36633994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagagagttggggccagtCaagctcgttggtaagggctg	9	8	16	8	1	1	1	1	0	0	1	2	2	1	1	2	4	1	5	2	4	2	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:36633994C>G	ENST00000431169.1	-	12	1189	c.889G>C	c.(889-891)Gac>Cac	p.D297H	AOAH_ENST00000538464.1_Missense_Mutation_p.D19H|AOAH_ENST00000535891.1_Missense_Mutation_p.D265H|AOAH_ENST00000258749.5_Missense_Mutation_p.D297H	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	297					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TGGGGCCAGTCAAGCTCGTTG	0.408													31	79					0	0	0	0	G	36633994	C	G	36633994	3	3	260	1	0	0	0	0	1	0	0	0	727	826	29	2	1219	2	AOAH	7	36633994	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	30665977	36633994	122504669	87	46508											
RFC2	5982	broad.mit.edu	37	chr7	73649972	73649972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatgccacaagtgagcaaGaatctagacaaaggagacag	18	4	11	8	0	1	5	0	1	1	4	1	6	1	5	1	1	2	1	1	1	5	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:73649972G>A	ENST00000055077.3	-	10	904	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	RFC2_ENST00000352131.3_Missense_Mutation_p.L248F	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	282					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						AAGTGAGCAAGAATCTAGACA	0.448													37	64					0	0	0	0	A	73649972	G	A	73649972	3	1	260	1	0	0	0	0	1	0	0	0	13327	942	33	2	228	2	RFC2	7	73649972	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	37015978	73649972	85488691	88	46509											
PCLO	27445	broad.mit.edu	37	chr7	82584860	82584860	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttctttgattttttactAgaactctttctttgttgctg	5	24	5	7	0	4	2	0	1	4	1	4	2	4	2	0	0	3	2	0	0	3	9			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:82584860A>G	ENST00000423517.2	-	5	5746	c.5409T>C	c.(5407-5409)tcT>tcC	p.S1803S	PCLO_ENST00000333891.8_Silent_p.S1803S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1734					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTTTTTACTAGAACTCTTTC	0.378													60	81					0	0	0	0	G	82584860	A	G	82584860	2	3	260	1	0	0	0	0	0	0	0	1	11654	407	15	5		5	PCLO	7	82584860	Silent	SNP	A	TCGA-CV-6948-01A-11D-1912-08	8934888	82584860	76553803	89	46510											
CCDC132	55610	broad.mit.edu	37	chr7	92869194	92869194	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaagggtctgaaaagccctCaagaaagcctcagtgatctt	13	10	9	9	0	4	3	2	2	2	1	4	3	4	3	2	1	2	0	2	1	5	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:92869194C>G	ENST00000305866.5	+	2	177	c.49C>G	c.(49-51)Caa>Gaa	p.Q17E	CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.Q17E|CCDC132_ENST00000544910.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.Q17E	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	17										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GAAAAGCCCTCAAGAAAGCCT	0.378													62	113					0	0	0	0	G	92869194	C	G	92869194	3	3	260	1	0	0	0	0	1	0	0	0	2792	827	29	2	55	2	CCDC132	7	92869194	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	10284334	92869194	66269469	90	46511											
TAF6	6878	broad.mit.edu	37	chr7	99711345	99711345	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcccggcccccaccagaGgcgaagcggaaaggaatgaa	13	2	13	13	3	0	2	0	1	0	1	1	5	1	4	4	4	2	1	4	4	4	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:99711345G>A	ENST00000344095.4	-	4	816	c.291C>T	c.(289-291)gcC>gcT	p.A97A	TAF6_ENST00000472509.1_Silent_p.A154A|TAF6_ENST00000452041.1_Silent_p.A97A|TAF6_ENST00000453269.2_Silent_p.A97A|TAF6_ENST00000437822.2_Silent_p.A134A|TAF6_ENST00000418432.2_Silent_p.A40A	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	97					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCACCAGAGGCGAAGCGGA	0.607													5	29					0	0	0	0	A	99711345	G	A	99711345	2	1	260	1	0	0	0	0	0	0	0	1	15621	987	35	4		4	TAF6	7	99711345	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	6842151	99711345	59427318	91	46512											
EXOC4	60412	broad.mit.edu	37	chr7	133689722	133689722	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggggaactatgccattgtGgctaatgtggaaagtatgga	12	10	15	4	0	0	0	0	0	0	0	0	4	0	3	1	5	2	2	1	5	5	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:133689722G>T	ENST00000253861.4	+	16	2435	c.2406G>T	c.(2404-2406)gtG>gtT	p.V802V	EXOC4_ENST00000541309.1_Silent_p.V90V|EXOC4_ENST00000539845.1_Silent_p.V701V|EXOC4_ENST00000545148.1_Silent_p.V412V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	802					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATGCCATTGTGGCTAATGTGG	0.463													7	99					2.0095e-06	2.41295e-06	1	0	T	133689722	G	T	133689722	2	4	260	1	0	0	0	0	0	0	0	1	5343	1335	47	4		4	EXOC4	7	133689722	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	33978377	133689722	25448941	92	46513											
UBN2	254048	broad.mit.edu	37	chr7	138968956	138968956	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactagttgcccagggtaGccactccagcactaacagcc	10	7	9	15	0	0	0	0	0	0	0	1	0	1	0	4	1	6	4	4	1	3	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:138968956G>C	ENST00000288561.8	+	15	3305	c.3056G>C	c.(3055-3057)aGc>aCc	p.S1019T	UBN2_ENST00000473989.2_Missense_Mutation_p.S1102T	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1102	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GCCCAGGGTAGCCACTCCAGC	0.473													59	66					0	0	0	0	C	138968956	G	C	138968956	3	2	260	1	0	0	0	0	1	0	0	0	16989	971	34	4	3363	4	UBN2	7	138968956	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	5279234	138968956	20169707	93	46514											
HTR5A	3361	broad.mit.edu	37	chr7	154862903	154862903	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcatgccgctgagcctGgtgcacgagctgtccgggcg	4	8	16	13	4	1	1	1	1	0	0	2	2	2	1	3	3	4	3	3	3	0	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr7:154862903G>A	ENST00000287907.2	+	1	870	c.294G>A	c.(292-294)ctG>ctA	p.L98L	AC093726.4_ENST00000395731.2_Silent_p.T37T|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Silent_p.T37T	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	98						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGCTGAGCCTGGTGCACGAGC	0.672													8	31					0	0	0	0	A	154862903	G	A	154862903	2	1	260	1	0	0	0	0	0	0	0	1	7503	1335	47	4		4	HTR5A	7	154862903	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	15893947	154862903	4275760	94	46515											
SGK223	157285	broad.mit.edu	37	chr8	8234394	8234394	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcctcttcacctacctCggagttctggctcacaggcc	6	11	8	16	1	5	0	2	0	3	0	7	1	5	1	4	3	1	2	4	3	1	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:8234394C>A	ENST00000520004.1	-	3	1789	c.1525G>T	c.(1525-1527)Gag>Tag	p.E509*	SGK223_ENST00000330777.4_Nonsense_Mutation_p.E509*			Q86YV5	SG223_HUMAN		509							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCACCTACCTCGGAGTTCTGG	0.652													13	8					0.000219431	0.000258497	1	0	A	8234394	C	A	8234394	4	1	260	1	0	0	0	0	0	1	0	0	14297	893	31	3	2699	3	SGK223	8	8234394	Nonsense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08		8234394	138129628	95	46516											
RP1L1	94137	broad.mit.edu	37	chr8	10467489	10467503	+	In_Frame_Del	DEL	CTGCACCCCCTCTTC	CTGCACCCCCTCTTC	-																															ccttctttaacttcctctaaCtgcaccccctcttcttgcag																								rs116242305	by1000genomes	TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:10467489_10467503delCTGCACCCCCTCTTC	ENST00000382483.3	-	4	4328_4342	c.4105_4119delGAAGAGGGGGTGCAG	c.(4105-4119)del	p.EEGVQ1369del		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1369					intracellular signal transduction					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)		CTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCct	0.498													10	201	---	---	---	---					-	10467503	CTGCACCCCCTCTTC	-	10467489	7	5	260	1	0	1	0	1	0	0	0	0	13618	564	20	0	3087	0	RP1L1	8	10467489	In_Frame_Del	DEL	CTGCACCCCCTCTTC	TCGA-CV-6948-01A-11D-1912-08	2233095	10467489	135896533	96	46517											
BAG4	9530	broad.mit.edu	37	chr8	38034614	38034614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgatggctactatccctcggGaggcgcctggccagagcctg	6	7	14	14	3	0	1	0	0	0	1	2	3	1	2	4	4	2	1	4	4	2	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:38034614G>A	ENST00000287322.4	+	1	498	c.227G>A	c.(226-228)gGa>gAa	p.G76E	BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Missense_Mutation_p.G76E	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	76					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TATCCCTCGGGAGGCGCCTGG	0.706													21	6					0	0	0	0	A	38034614	G	A	38034614	3	1	260	1	0	0	0	0	1	0	0	0	1293	1174	41	2	229	2	BAG4	8	38034614	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	27567125	38034614	108329408	97	46518											
XKR4	114786	broad.mit.edu	37	chr8	56270346	56270346	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgcggatgtgagtatgctGcatttgctagccacctttct	7	15	10	9	1	1	1	0	1	1	0	1	2	1	2	2	1	5	4	2	1	3	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:56270346G>T	ENST00000327381.5	+	2	1015	c.915G>T	c.(913-915)ctG>ctT	p.L305L		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	305						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGAGTATGCTGCATTTGCTAG	0.473													43	37					2.19962e-31	2.92343e-31	1	0	T	56270346	G	T	56270346	2	4	260	1	0	0	0	0	0	0	0	1	17529	1306	46	4		4	XKR4	8	56270346	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	18235732	56270346	90093676	98	46519											
CLVS1	157807	broad.mit.edu	37	chr8	62212732	62212732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaacttcaaggcagatgatCccggcattaagagggctctg	13	8	11	9	1	2	3	1	1	1	2	3	3	3	3	1	3	1	3	1	3	4	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:62212732C>T	ENST00000519846.1	+	3	818	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.P116S|RP11-787D18.1_ENST00000518064.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	116					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGCAGATGATCCCGGCATTAA	0.507													21	60					0	0	0	0	T	62212732	C	T	62212732	3	4	260	1	0	0	0	0	1	0	0	0	3601	855	30	2	348	2	CLVS1	8	62212732	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	5942386	62212732	84151290	99	46520											
PREX2	80243	broad.mit.edu	37	chr8	68934274	68934274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttacatgaattcacagaaaGacaagtttcgtatctatgat	15	13	6	7	1	2	4	1	2	1	2	3	4	2	4	0	0	1	2	0	0	6	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:68934274G>A	ENST00000288368.4	+	4	617	c.340G>A	c.(340-342)Gac>Aac	p.D114N	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	114	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTCACAGAAAGACAAGTTTCG	0.299													19	29					0	0	0	0	A	68934274	G	A	68934274	3	1	260	1	0	0	0	0	1	0	0	0	12557	942	33	2	354	2	PREX2	8	68934274	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	6721542	68934274	77429748	100	46521											
E2F5	1875	broad.mit.edu	37	chr8	86121536	86121536	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttcctcccagtccttgactCcagtgactccacagaaatcc	9	10	5	17	0	0	3	0	2	0	1	6	3	6	3	6	0	0	0	6	0	1	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:86121536C>G	ENST00000418930.2	+	6	971	c.775C>G	c.(775-777)Cca>Gca	p.P259A	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_Missense_Mutation_p.P86A|E2F5_ENST00000416274.2_Missense_Mutation_p.P259A|E2F5_ENST00000517476.1_Missense_Mutation_p.P98A|E2F5_ENST00000256117.5_Missense_Mutation_p.P260A			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	259					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GTCCTTGACTCCAGTGACTCC	0.488													5	94					0	0	0	0	G	86121536	C	G	86121536	3	3	260	1	0	0	0	0	1	0	0	0	4906	855	30	2	797	2	E2F5	8	86121536	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	17187262	86121536	60242486	101	46522											
PSKH2	85481	broad.mit.edu	37	chr8	87076791	87076791	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttattgcaaaaggtttcttGgtggtcttctgctctaccct	6	18	8	9	0	4	0	0	0	4	0	4	0	4	0	1	3	3	3	1	3	4	7			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:87076791G>T	ENST00000276616.2	-	2	329	c.255C>A	c.(253-255)acC>acA	p.T85T	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	85	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AAGGTTTCTTGGTGGTCTTCT	0.483													28	109					8.58068e-18	1.11657e-17	1	0	T	87076791	G	T	87076791	2	4	260	1	0	0	0	0	0	0	0	1	12744	1335	47	4		4	PSKH2	8	87076791	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	955255	87076791	59287231	102	46523											
RUNX1T1	862	broad.mit.edu	37	chr8	92999130	92999130	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttacatggtcaagatgtttCcactcttctgcccattctct	7	16	5	13	0	4	1	1	0	3	1	6	1	5	1	2	1	2	1	2	1	2	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:92999130C>A	ENST00000523629.1	-	8	1516	c.1062G>T	c.(1060-1062)tgG>tgT	p.W354C	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.W354C|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.W327C|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.W327C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.W317C|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.W317C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.W317C|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.W365C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	354	Important for oligomerization.				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)			CAAGATGTTTCCACTCTTCTG	0.378													6	215					0.00116845	0.00135592	1	0	A	92999130	C	A	92999130	3	1	260	1	0	0	0	0	1	0	0	0	13832	856	30	2	772	2	RUNX1T1	8	92999130	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	5922339	92999130	53364892	103	46524											
FAM92A1	137392	broad.mit.edu	37	chr8	94713483	94713483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaacaactgcaaacagctGtctcaaatgtggagaagcat	16	7	9	9	1	1	1	1	0	1	1	2	3	1	1	0	1	6	3	0	1	5	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:94713483G>T	ENST00000518322.1	+	2	199	c.58G>T	c.(58-60)Gtc>Ttc	p.V20F	FAM92A1_ENST00000423990.2_Missense_Mutation_p.V20F|FAM92A1_ENST00000522324.1_Missense_Mutation_p.V20F	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	20										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GCAAACAGCTGTCTCAAATGT	0.453													10	41					2.80697e-09	3.42341e-09	1	0	T	94713483	G	T	94713483	3	4	260	1	0	0	0	0	1	0	0	0	5697	1377	48	4	64	4	FAM92A1	8	94713483	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	1714353	94713483	51650539	104	46525											
VPS13B	157680	broad.mit.edu	37	chr8	100513954	100513954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaggaatcaccattctcaGattctgtgaccttggaacaa	12	11	9	9	0	3	3	2	2	2	1	4	5	3	5	2	2	1	0	2	2	3	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:100513954G>A	ENST00000395996.1	+	26	4021	c.3910G>A	c.(3910-3912)Gat>Aat	p.D1304N	VPS13B_ENST00000358544.2_Missense_Mutation_p.D1304N|VPS13B_ENST00000357162.2_Missense_Mutation_p.D1304N			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1304					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACCATTCTCAGATTCTGTGAC	0.368													95	129					0	0	0	0	A	100513954	G	A	100513954	3	1	260	1	0	0	0	0	1	0	0	0	17286	942	33	2	4131	2	VPS13B	8	100513954	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	5800471	100513954	45850068	105	46526											
EIF3E	3646	broad.mit.edu	37	chr8	109252300	109252300	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtggttcttttctctctCaaagctaattaaaaatgcag	12	15	6	8	0	3	0	1	0	3	0	5	0	3	0	0	1	2	3	0	1	5	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:109252300C>G	ENST00000220849.5	-	3	272	c.210G>C	c.(208-210)ttG>ttC	p.L70F	EIF3E_ENST00000519030.1_5'UTR	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	70	Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TTTTCTCTCTCAAAGCTAATT	0.358													30	126					0	0	0	0	G	109252300	C	G	109252300	3	3	260	1	0	0	0	0	1	0	0	0	5053	825	29	2	1171	2	EIF3E	8	109252300	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	8738346	109252300	37111722	106	46527											
CSMD3	114788	broad.mit.edu	37	chr8	113323395	113323395	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtactacagtagaaaGcttttcaaaagaaaaaaaaa	20	9	7	5	0	1	2	1	0	0	2	1	2	1	2	0	1	3	3	0	1	10	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:113323395G>T	ENST00000297405.5	-	50	7941	c.7696_splice	c.e50-1	p.A2566_splice	CSMD3_ENST00000352409.3_Splice_Site_p.A2496_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A2462_splice|CSMD3_ENST00000343508.3_Splice_Site_p.A2526_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2566	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACAGTAGAAAGCTTTTCAAAA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	59					4.93089e-13	6.20853e-13	1	0	T	113323395	G	T	113323395	5	4	260	1	0	0	0	0	0	0	1	0	3978	985	34	4	3514	4	CSMD3	8	113323395	Splice_Site	SNP	G	TCGA-CV-6948-01A-11D-1912-08	4071095	113323395	33040627	107	46528											
MYC	4609	broad.mit.edu	37	chr8	128753051	128753051	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttggaaaacaatgaaaaGgcccccaaggtagttatcct	15	8	10	8	0	0	1	0	1	0	0	1	3	1	2	3	3	1	3	3	3	8	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:128753051G>C	ENST00000377970.2	+	3	1722	c.1212G>C	c.(1210-1212)aaG>aaC	p.K404N	MYC_ENST00000524013.1_Missense_Mutation_p.K403N	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	389	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		ACAATGAAAAGGCCCCCAAGG	0.502		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"								64	305					0	0	0	0	C	128753051	G	C	128753051	3	2	260	1	0	0	0	0	1	0	0	0	10086	991	35	4	1222	4	MYC	8	128753051	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	15429656	128753051	17610971	108	46529											
ASAP1	50807	broad.mit.edu	37	chr8	131073299	131073299	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctagggagagatgatcTgttttccttagtgccactgt	7	16	11	7	0	2	2	0	1	2	1	3	4	3	3	2	1	1	1	2	1	2	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:131073299T>C	ENST00000357668.1	-	27	2745	c.2718A>G	c.(2716-2718)acA>acG	p.T906T	ASAP1_ENST00000518721.1_Silent_p.T906T			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	906	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGAGATGATCTGTTTTCCTTA	0.493													83	271					0	0	0	0	C	131073299	T	C	131073299	2	2	260	1	0	0	0	0	0	0	0	1	1014	1567	55	5		5	ASAP1	8	131073299	Silent	SNP	T	TCGA-CV-6948-01A-11D-1912-08	2320248	131073299	15290723	109	46530											
OC90	729330	broad.mit.edu	37	chr8	133036916	133036916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcccagggcacccgaGtctgcttggggacttgaggc	5	8	16	12	1	1	1	0	1	1	0	1	3	1	2	2	5	2	3	2	5	0	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:133036916G>A	ENST00000262283.5	-	18	1981	c.1882C>T	c.(1882-1884)Ctc>Ttc	p.L628F	OC90_ENST00000443356.2_Missense_Mutation_p.L432F|OC90_ENST00000603859.1_Missense_Mutation_p.L416F|OC90_ENST00000254627.3_Missense_Mutation_p.L416F			Q02509	OC90_HUMAN	otoconin 90	432					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGGCACCCGAGTCTGCTTGGG	0.627													10	36					0	0	0	0	A	133036916	G	A	133036916	3	1	260	1	0	0	0	0	1	0	0	0	10885	1029	36	4	191	4	OC90	8	133036916	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	1963617	133036916	13327106	110	46531											
PLEC	5339	broad.mit.edu	37	chr8	144992466	144992479	+	Frame_Shift_Del	DEL	GCTGGGCTCTGACA	GCTGGGCTCTGACA	-																															tccacgtagctgcgcacctcGctgggctctgacagctggtc																										TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr8:144992466_144992479delGCTGGGCTCTGACA	ENST00000322810.4	-	32	12090_12103	c.11921_11934delTGTCAGAGCCCAGC	c.(11920-11934)cfs	p.LSEPS3974fs	PLEC_ENST00000354958.2_Frame_Shift_Del_p.LSEPS3815fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.LSEPS3837fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.LSEPS3805fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.LSEPS3841fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.LSEPS3823fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.LSEPS3837fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.LSEPS3864fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.LSEPS3860fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3974	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCGCACCTCGCTGGGCTCTGACAGCTGGTCGTG	0.692													9	26	---	---	---	---					-	144992479	GCTGGGCTCTGACA	-	144992466	7	5	260	1	0	1	0	1	0	0	0	0	12124	1078	38	0	2124	0	PLEC	8	144992466	Frame_Shift_Del	DEL	GCTGGGCTCTGACA	TCGA-CV-6948-01A-11D-1912-08	11955550	144992466	1371556	111	46532											
KDM4C	23081	broad.mit.edu	37	chr9	6805612	6805612	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttaggtgattcctcctaAggagtggaagccaagacagt	11	12	11	7	0	0	2	0	1	0	1	2	4	2	4	3	3	1	0	3	3	4	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr9:6805612A>T	ENST00000536108.1	+	0	261				KDM4C_ENST00000381309.3_Missense_Mutation_p.K53M|KDM4C_ENST00000401787.3_Missense_Mutation_p.K53M|KDM4C_ENST00000381306.3_Missense_Mutation_p.K53M|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000535193.1_Missense_Mutation_p.K75M|KDM4C_ENST00000543771.1_Missense_Mutation_p.K53M|KDM4C_ENST00000489243.1_3'UTR			Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C						positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ATTCCTCCTAAGGAGTGGAAG	0.358													19	4					0	0	0	0	T	6805612	A	T	6805612	1	4	260	1	0	0	0	0	0	0	0	0	8183	72	3	5		5	KDM4C	9	6805612	Translation_Start_Site	SNP	A	TCGA-CV-6948-01A-11D-1912-08		6805612	134407819	112	46533											
LRRC19	64922	broad.mit.edu	37	chr9	26999638	26999640	+	In_Frame_Del	DEL	ATA	ATA	-																															agaagactggattttgtctgAtaataatatcatggagaggg																										TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr9:26999638_26999640delATA	ENST00000380055.5	-	2	163_165	c.53_55delTAT	c.(52-57)tca>t	p.LS18del	IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000429045.2_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	18						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		ATTTTGTCTGATAATAATATCAT	0.291													14	20	---	---	---	---					-	26999640	ATA	-	26999638	7	5	260	1	0	1	0	1	0	0	0	0	9039	333	12	0	1073	0	LRRC19	9	26999638	In_Frame_Del	DEL	ATA	TCGA-CV-6948-01A-11D-1912-08	20194026	26999638	114213793	113	46534											
CYLC2	1539	broad.mit.edu	37	chr9	105767308	105767308	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacacaacagattcggaatCagaattaaaacaaggaaaaa	22	5	8	6	1	1	2	1	0	0	2	2	5	1	5	0	3	2	0	0	3	8	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr9:105767308C>G	ENST00000374798.3	+	5	465	c.395C>G	c.(394-396)tCa>tGa	p.S132*	CYLC2_ENST00000487798.1_Nonsense_Mutation_p.S132*	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	132	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GATTCGGAATCAGAATTAaaa	0.318													6	27					0	0	0	0	G	105767308	C	G	105767308	4	3	260	1	0	0	0	0	0	1	0	0	4174	838	29	2	413	2	CYLC2	9	105767308	Nonsense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	78767670	105767308	35446123	114	46535											
PTPN3	5774	broad.mit.edu	37	chr9	112168829	112168829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacttggtcatgcgtgtgttCtgagatgtcccggccattga	6	13	12	10	2	2	2	1	2	1	1	3	3	3	2	2	2	1	1	2	2	0	3	rs59324117	byFrequency	TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr9:112168829C>G	ENST00000412145.1	-	13	3865	c.1312G>C	c.(1312-1314)Gaa>Caa	p.E438Q	PTPN3_ENST00000446349.1_Missense_Mutation_p.E393Q|PTPN3_ENST00000374541.2_Missense_Mutation_p.E569Q|PTPN3_ENST00000394827.3_Missense_Mutation_p.E37Q|PTPN3_ENST00000262539.3_Missense_Mutation_p.E415Q	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	569					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGCGTGTGTTCTGAGATGTCC	0.557													87	134					0	0	0	0	G	112168829	C	G	112168829	3	3	260	1	0	0	0	0	1	0	0	0	12871	922	32	2	1072	2	PTPN3	9	112168829	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	6401521	112168829	29044602	115	46536											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899008	112899008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctcacggtgttcttcccGagatggagagttcactctca	8	11	10	12	2	4	2	3	0	2	2	6	4	5	2	1	2	1	3	1	2	0	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr9:112899008G>A	ENST00000374530.3	+	8	1364	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R395Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.R395Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.R395Q|AKAP2_ENST00000259318.7_Missense_Mutation_p.R164Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.R253Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.R253Q	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		164							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TGTTCTTCCCGAGATGGAGAG	0.572													47	9					0	0	0	0	A	112899008	G	A	112899008	3	1	260	1	0	0	0	0	1	0	0	0	11481	1058	37	1	1214	1	PALM2-AKAP2	9	112899008	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	730179	112899008	28314423	116	46537											
LARP4B	23185	broad.mit.edu	37	chr10	863817	863817	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggtggcgttggagactGtgtctggctgctctgcaaca	5	13	14	9	1	2	1	0	0	2	1	2	2	2	1	0	4	3	4	0	4	1	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:863817G>A	ENST00000316157.3	-	14	1583	c.1543C>T	c.(1543-1545)Cag>Tag	p.Q515*		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	515							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GTTGGAGACTGTGTCTGGCTG	0.557													23	49					0	0	0	0	A	863817	G	A	863817	4	1	260	1	0	0	0	0	0	1	0	0	8684	1386	48	4	689	4	LARP4B	10	863817	Nonsense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08		863817	134670930	117	46538											
IL2RA	3559	broad.mit.edu	37	chr10	6061875	6061875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcactctcaggacggcCttcggggcttgcctgaggct	5	10	13	13	2	2	1	2	1	2	0	5	2	2	2	2	5	1	2	2	5	0	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:6061875C>T	ENST00000379959.3	-	5	786	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	IL2RA_ENST00000256876.6_Missense_Mutation_p.G196S|IL2RA_ENST00000379954.1_Missense_Mutation_p.G133S	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	205					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCAGGACGGCCTTCGGGGCTT	0.597													30	59					0	0	0	0	T	6061875	C	T	6061875	3	4	260	1	0	0	0	0	1	0	0	0	7739	681	24	4	221	4	IL2RA	10	6061875	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	5198058	6061875	129472872	118	46539											
MCM10	55388	broad.mit.edu	37	chr10	13240697	13240697	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgccctagctgaggatGaattggagcctgccaggaaa	10	9	13	9	0	0	2	0	2	0	0	0	5	0	5	3	3	4	1	3	3	3	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:13240697G>T	ENST00000378694.1	+	15	2203	c.2128G>T	c.(2128-2130)Gaa>Taa	p.E710*	MCM10_ENST00000378714.3_Nonsense_Mutation_p.E710*|MCM10_ENST00000484800.2_Nonsense_Mutation_p.E711*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	711					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGCTGAGGATGAATTGGAGCC	0.458													45	61					8.94452e-30	1.18372e-29	1	0	T	13240697	G	T	13240697	4	4	260	1	0	0	0	0	0	1	0	0	9454	1291	45	2	2189	2	MCM10	10	13240697	Nonsense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	7178822	13240697	122294050	119	46540											
NPFFR1	64106	broad.mit.edu	37	chr10	72020461	72020461	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacatgccctgcaccaagccGctcatcttgcatgtggcatt	8	10	9	14	1	2	0	1	0	1	0	2	1	2	0	3	1	4	4	3	1	1	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:72020461G>A	ENST00000277942.5	-	3	364	c.357C>T	c.(355-357)agC>agT	p.S119S		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	119						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						GCACCAAGCCGCTCATCTTGC	0.567													7	17					0	0	0	0	A	72020461	G	A	72020461	2	1	260	1	0	0	0	0	0	0	0	1	10647	1078	38	1		1	NPFFR1	10	72020461	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	58779764	72020461	63514286	120	46541											
LIPN	643418	broad.mit.edu	37	chr10	90521213	90521213	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctgtggaactttaaaTgctggtggattccttgattt	8	18	10	5	0	1	2	0	2	1	0	2	4	2	4	1	3	2	1	1	3	3	6			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:90521213T>C	ENST00000404459.1	+	1	51	c.51T>C	c.(49-51)aaT>aaC	p.N17N		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	17					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		GAACTTTAAATGCTGGTGGAT	0.343													39	62					0	0	0	0	C	90521213	T	C	90521213	2	2	260	1	0	0	0	0	0	0	0	1	8883	1461	51	5		5	LIPN	10	90521213	Silent	SNP	T	TCGA-CV-6948-01A-11D-1912-08	18500752	90521213	45013534	121	46542											
TLX1	3195	broad.mit.edu	37	chr10	102891411	102891411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggctgcatgggacccgcctCgcgcctccaggacggagaat	7	6	14	14	4	0	1	0	0	0	1	2	4	1	3	4	4	1	2	4	4	1	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:102891411C>G	ENST00000370196.6	+	1	2155	c.113C>G	c.(112-114)tCg>tGg	p.S38W	TLX1_ENST00000467928.2_Missense_Mutation_p.S38W			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	38						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GGACCCGCCTCGCGCCTCCAG	0.706			T	"TRB@, TRD@"	T-ALL								8	15					0	0	0	0	G	102891411	C	G	102891411	3	3	260	1	0	0	0	0	1	0	0	0	16053	893	31	3	115	3	TLX1	10	102891411	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	12370198	102891411	32643336	122	46543											
ACSL5	51703	broad.mit.edu	37	chr10	114158684	114158684	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacggaagggggtttcccAgaagaacaatgacctaacaa	16	5	11	9	1	0	3	0	1	0	2	1	4	1	4	2	3	3	2	2	3	6	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:114158684A>G	ENST00000393081.1	+	3	489	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	ACSL5_ENST00000354273.4_Missense_Mutation_p.Q61R|ACSL5_ENST00000356116.1_Missense_Mutation_p.Q117R|ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000354655.4_Missense_Mutation_p.Q61R|ACSL5_ENST00000433418.1_Missense_Mutation_p.Q61R	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	61					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GGGGTTTCCCAGAAGAACAAT	0.463													55	73					0	0	0	0	G	114158684	A	G	114158684	3	3	260	1	0	0	0	0	1	0	0	0	180	188	7	5	360	5	ACSL5	10	114158684	Missense_Mutation	SNP	A	TCGA-CV-6948-01A-11D-1912-08	11267273	114158684	21376063	123	46544											
ACSL5	51703	broad.mit.edu	37	chr10	114171725	114171725	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctggctcatatgtttgaGaggattgtacaggtgagtgt	8	14	13	6	0	2	2	1	2	1	1	2	4	2	3	1	3	1	3	1	3	2	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr10:114171725G>C	ENST00000393081.1	+	11	1243	c.936G>C	c.(934-936)gaG>gaC	p.E312D	ACSL5_ENST00000369410.3_Missense_Mutation_p.E94D|ACSL5_ENST00000354273.4_Missense_Mutation_p.E312D|ACSL5_ENST00000356116.1_Missense_Mutation_p.E368D|ACSL5_ENST00000354655.4_Missense_Mutation_p.E312D|ACSL5_ENST00000433418.1_Missense_Mutation_p.E312D	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	312					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATATGTTTGAGAGGATTGTAC	0.478													7	139					0	0	0	0	C	114171725	G	C	114171725	3	2	260	1	0	0	0	0	1	0	0	0	180	933	33	2	1146	2	ACSL5	10	114171725	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	13041	114171725	21363022	124	46545											
NLRP14	338323	broad.mit.edu	37	chr11	7063670	7063670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaattttgcatcacttGggacaagaagtctttggctg	12	12	11	6	0	2	1	1	0	1	1	2	3	2	3	0	3	1	2	0	3	4	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:7063670G>T	ENST00000299481.4	+	4	759	c.413G>T	c.(412-414)tGg>tTg	p.W138L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	138					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGCATCACTTGGGACAAGAAG	0.363													30	16					1.39806e-14	1.77467e-14	1	0	T	7063670	G	T	7063670	3	4	260	1	0	0	0	0	1	0	0	0	10546	1357	47	4	423	4	NLRP14	11	7063670	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08		7063670	127942846	125	46546											
OR10A6	390093	broad.mit.edu	37	chr11	7950014	7950014	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcaggtccaccacagataAgttcaggagaaacaggtaca	16	6	9	10	0	2	2	2	0	0	2	3	3	3	2	2	3	2	2	2	3	3	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:7950014A>C	ENST00000309838.2	-	1	195	c.196T>G	c.(196-198)Tta>Gta	p.L66V		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACCACAGATAAGTTCAGGAGA	0.443													61	29					0	0	0	0	C	7950014	A	C	7950014	3	2	260	1	0	0	0	0	1	0	0	0	10965	69	3	5	751	5	OR10A6	11	7950014	Missense_Mutation	SNP	A	TCGA-CV-6948-01A-11D-1912-08	886344	7950014	127056502	126	46547											
NAV2	89797	broad.mit.edu	37	chr11	19970445	19970445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgagtcaggtcgctatGtgtactccgcccctctgaga	8	10	10	13	2	2	2	1	2	1	1	4	3	3	2	3	1	1	2	3	1	2	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:19970445G>A	ENST00000396085.1	+	10	2825	c.2464G>A	c.(2464-2466)Gtg>Atg	p.V822M	NAV2_ENST00000360655.4_Missense_Mutation_p.V758M|NAV2_ENST00000527559.2_Missense_Mutation_p.V774M|NAV2_ENST00000396087.3_Missense_Mutation_p.V845M|NAV2_ENST00000349880.4_Missense_Mutation_p.V822M|NAV2_ENST00000540292.1_Missense_Mutation_p.V776M	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	845						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGTCGCTATGTGTACTCCGC	0.612													40	14					0	0	0	0	A	19970445	G	A	19970445	3	1	260	1	0	0	0	0	1	0	0	0	10254	1377	48	4	2581	4	NAV2	11	19970445	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	12020431	19970445	115036071	127	46548											
RAG2	5897	broad.mit.edu	37	chr11	36614509	36614509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatcttcttcatcatcttCattataggtgtcaaattcat	10	18	3	10	0	9	0	6	0	3	0	9	0	9	0	0	1	0	0	0	1	3	6			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:36614509C>T	ENST00000311485.3	-	2	1371	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	404					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TCATCATCTTCATTATAGGTG	0.403									Familial Hemophagocytic Lymphohistiocytosis				38	24					0	0	0	0	T	36614509	C	T	36614509	3	4	260	1	0	0	0	0	1	0	0	0	13087	835	29	2	377	2	RAG2	11	36614509	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	16644064	36614509	98392007	128	46549											
FAM111B	374393	broad.mit.edu	37	chr11	58892341	58892341	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaacagtccatggtggaTgaagtatctggaaaagtctt	14	10	12	5	0	2	1	0	1	2	0	3	4	3	4	1	4	1	1	1	4	6	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:58892341T>A	ENST00000343597.3	+	4	962	c.771T>A	c.(769-771)gaT>gaA	p.D257E	FAM111B_ENST00000529618.1_Missense_Mutation_p.D227E|FAM111B_ENST00000411426.1_Missense_Mutation_p.D227E	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	257							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CCATGGTGGATGAAGTATCTG	0.343													4	31					0	0	0	0	A	58892341	T	A	58892341	3	1	260	1	0	0	0	0	1	0	0	0	5441	1461	51	5	777	5	FAM111B	11	58892341	Missense_Mutation	SNP	T	TCGA-CV-6948-01A-11D-1912-08	22277832	58892341	76114175	129	46550											
B3GAT3	26229	broad.mit.edu	37	chr11	62384617	62384617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctcgacaccacggggatGaacccagccaggctcgccct	8	5	11	17	3	0	1	0	1	0	0	2	3	0	2	4	3	3	2	4	3	1	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:62384617G>A	ENST00000531383.1	-	3	666	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	B3GAT3_ENST00000534026.1_Missense_Mutation_p.H154Y|B3GAT3_ENST00000265471.5_Missense_Mutation_p.H154Y			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	154					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CCACGGGGATGAACCCAGCCA	0.687													33	46					0	0	0	0	A	62384617	G	A	62384617	3	1	260	1	0	0	0	0	1	0	0	0	1259	1290	45	2	559	2	B3GAT3	11	62384617	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	3492276	62384617	72621899	130	46551											
TM7SF2	7108	broad.mit.edu	37	chr11	64883456	64883456	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgagcggcagtgcctgcaGaagtacggcctggcctggca	8	6	16	11	2	0	2	0	1	0	1	0	3	0	2	3	4	4	4	3	4	2	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:64883456G>A	ENST00000279263.7	+	10	1350	c.1188G>A	c.(1186-1188)caG>caA	p.Q396Q	TM7SF2_ENST00000540748.1_Silent_p.Q280Q|TM7SF2_ENST00000345348.5_Silent_p.Q369Q	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	396					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGTGCCTGCAGAAGTACGGCC	0.632													21	32					0	0	0	0	A	64883456	G	A	64883456	2	1	260	1	0	0	0	0	0	0	0	1	16068	933	33	2		2	TM7SF2	11	64883456	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	2498839	64883456	70123060	131	46552											
RAB1B	81876	broad.mit.edu	37	chr11	66039643	66039643	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaggatgacacgtacacaGagagctacatcagcaccatc	14	7	8	12	1	2	2	2	1	0	1	3	4	2	3	1	1	4	3	1	1	2	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:66039643G>C	ENST00000311481.6	+	3	250	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	RAB1B_ENST00000527397.1_Missense_Mutation_p.E35Q|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	35					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CACGTACACAGAGAGCTACAT	0.527													74	150					0	0	0	0	C	66039643	G	C	66039643	3	2	260	1	0	0	0	0	1	0	0	0	12988	943	33	2	113	2	RAB1B	11	66039643	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	1156187	66039643	68966873	132	46553											
TCIRG1	10312	broad.mit.edu	37	chr11	67816400	67816400	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactccttcaagatgaagAtgtccgtcatcctgggcgtc	9	11	9	12	2	3	3	3	1	0	2	7	3	6	3	3	1	1	0	3	1	3	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:67816400A>T	ENST00000265686.3	+	14	1717	c.1609A>T	c.(1609-1611)Atg>Ttg	p.M537L	TCIRG1_ENST00000532635.1_Missense_Mutation_p.M321L	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	537					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CAAGATGAAGATGTCCGTCAT	0.632													62	86					0	0	0	0	T	67816400	A	T	67816400	3	4	260	1	0	0	0	0	1	0	0	0	15797	333	12	5	1659	5	TCIRG1	11	67816400	Missense_Mutation	SNP	A	TCGA-CV-6948-01A-11D-1912-08	1776757	67816400	67190116	133	46554											
NAALAD2	10003	broad.mit.edu	37	chr11	89902099	89902099	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttgcttcaactacaggaGaatgtcaaaatactccagga	15	10	7	9	0	2	1	2	0	0	1	3	3	3	2	1	2	4	1	1	2	6	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:89902099G>C	ENST00000534061.1	+	12	1511	c.1281G>C	c.(1279-1281)gaG>gaC	p.E427D	NAALAD2_ENST00000321955.4_Missense_Mutation_p.E394D|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	427	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AACTACAGGAGAATGTCAAAA	0.303													12	42					0	0	0	0	C	89902099	G	C	89902099	3	2	260	1	0	0	0	0	1	0	0	0	10198	933	33	2	1327	2	NAALAD2	11	89902099	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	22085699	89902099	45104417	134	46555											
CNTN5	53942	broad.mit.edu	37	chr11	100211833	100211833	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttattttgcagctcctagtCaagcacctagcaacctcagg	10	12	7	12	0	2	0	2	0	0	0	3	0	3	0	3	1	5	4	3	1	5	6			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:100211833C>G	ENST00000524871.1	+	23	3216	c.2926C>G	c.(2926-2928)Caa>Gaa	p.Q976E	CNTN5_ENST00000528682.1_Missense_Mutation_p.Q976E|CNTN5_ENST00000418526.2_Missense_Mutation_p.Q902E|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.Q976E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	976	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGCTCCTAGTCAAGCACCTAG	0.428													4	110					0	0	0	0	G	100211833	C	G	100211833	3	3	260	1	0	0	0	0	1	0	0	0	3674	827	29	2	3008	2	CNTN5	11	100211833	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	10309734	100211833	34794683	135	46556											
DYNC2H1	79659	broad.mit.edu	37	chr11	102993566	102993566	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttaaggtagatgatactAtcaagattgcagaggctctt	12	15	9	5	0	2	4	1	1	1	3	2	4	2	4	0	2	2	3	0	2	5	8			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:102993566A>C	ENST00000375735.2	+	11	1642	c.1498A>C	c.(1498-1500)Atc>Ctc	p.I500L	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.I500L|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I500L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	500	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGATGATACTATCAAGATTGC	0.358													15	25					0	0	0	0	C	102993566	A	C	102993566	3	2	260	1	0	0	0	0	1	0	0	0	4882	449	16	5	1540	5	DYNC2H1	11	102993566	Missense_Mutation	SNP	A	TCGA-CV-6948-01A-11D-1912-08	2781733	102993566	32012950	136	46557											
BSX	390259	broad.mit.edu	37	chr11	122850009	122850009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccgtggccagctccactCgttctggcgtggacaggtag	5	8	16	12	3	1	0	0	0	1	0	3	1	2	1	3	5	1	3	3	5	1	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr11:122850009C>T	ENST00000343035.2	-	2	467	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	140										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CAGCTCCACTCGTTCTGGCGT	0.637													42	97					0	0	0	0	T	122850009	C	T	122850009	3	4	260	1	0	0	0	0	1	0	0	0	1543	884	31	1	289	1	BSX	11	122850009	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	19856443	122850009	12156507	137	46558											
FGF23	8074	broad.mit.edu	37	chr12	4479837	4479837	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgcctggcaggaaggctCtcttcgcccggcccagactg	6	8	12	15	2	2	1	1	0	1	1	4	2	2	2	3	4	1	2	3	4	1	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:4479837C>G	ENST00000237837.1	-	3	573	c.428G>C	c.(427-429)aGa>aCa	p.R143T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	143					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CAGGAAGGCTCTCTTCGCCCG	0.597													68	110					0	0	0	0	G	4479837	C	G	4479837	3	3	260	1	0	0	0	0	1	0	0	0	5897	913	32	2	331	2	FGF23	12	4479837	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08		4479837	129372058	138	46559											
GDF3	9573	broad.mit.edu	37	chr12	7842556	7842556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tattgtcctggtagagcatgGaaatgggagacagcttggtg	10	11	15	5	0	0	2	0	0	0	2	1	4	1	3	1	4	2	3	1	4	3	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:7842556G>A	ENST00000329913.3	-	2	1060	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	338					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTAGAGCATGGAAATGGGAGA	0.478													30	59					0	0	0	0	A	7842556	G	A	7842556	3	1	260	1	0	0	0	0	1	0	0	0	6366	1174	41	2	85	2	GDF3	12	7842556	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	3362719	7842556	126009339	139	46560											
TMPRSS12	283471	broad.mit.edu	37	chr12	51281127	51281127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aattaccagttacggacatgGctgtggtcgaagaggttttc	10	12	12	7	2	0	1	0	0	0	1	2	3	0	2	1	4	2	3	1	4	4	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:51281127G>A	ENST00000398458.3	+	5	910	c.878G>A	c.(877-879)gGc>gAc	p.G293D	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365.1	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	293	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TACGGACATGGCTGTGGTCGA	0.433													53	73					0	0	0	0	A	51281127	G	A	51281127	3	1	260	1	0	0	0	0	1	0	0	0	16338	1203	42	4	896	4	TMPRSS12	12	51281127	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	43438571	51281127	82570768	140	46561											
KRT76	51350	broad.mit.edu	37	chr12	53164843	53164843	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccacatccagggccagcTtgacgttcatcagctcctgg	7	10	9	15	1	3	1	2	1	1	0	6	1	5	1	4	2	2	3	4	2	0	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:53164843T>G	ENST00000332411.2	-	7	1477	c.1424A>C	c.(1423-1425)aAg>aCg	p.K475T		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	475	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGGGCCAGCTTGACGTTCAT	0.572													9	116					0	0	0	0	G	53164843	T	G	53164843	3	3	260	1	0	0	0	0	1	0	0	0	8541	1609	56	5	504	5	KRT76	12	53164843	Missense_Mutation	SNP	T	TCGA-CV-6948-01A-11D-1912-08	1883716	53164843	80687052	141	46562											
OR6C75	390323	broad.mit.edu	37	chr12	55759093	55759093	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcggaacttctcattcCtggaaatttcattcacgtct	8	16	5	12	2	4	0	3	0	2	0	8	2	6	2	2	2	1	0	2	2	2	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:55759093C>T	ENST00000343399.3	+	1	199	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTTCTCATTCCTGGAAATTTC	0.443													81	119					0	0	0	0	T	55759093	C	T	55759093	2	4	260	1	0	0	0	0	0	0	0	1	11270	680	24	4		4	OR6C75	12	55759093	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	2594250	55759093	78092802	142	46563											
LRP1	4035	broad.mit.edu	37	chr12	57594938	57594938	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgagagggactgccgTgagtgtcagaggtggtggtg	8	8	21	4	1	1	3	1	2	0	2	1	7	1	5	1	5	1	0	1	5	0	0	rs111522273		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:57594938T>C	ENST00000243077.3	+	65	10811		c.e65+2			NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1						aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGACTGCCGTGAGTGTCAGA	0.567													45	84					0	0	0	0	C	57594938	T	C	57594938	5	2	260	1	0	0	0	0	0	0	1	0	9015	1710	59	5	10605	5	LRP1	12	57594938	Splice_Site	SNP	T	TCGA-CV-6948-01A-11D-1912-08	1835845	57594938	76256957	143	46564											
HELB	92797	broad.mit.edu	37	chr12	66725387	66725387	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcatccaaaagaacctgtGgtgtgaatgatgatgaaagt	15	9	12	5	0	0	5	0	4	0	1	1	6	1	5	2	1	2	1	2	1	5	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:66725387G>C	ENST00000247815.4	+	12	3183	c.3124G>C	c.(3124-3126)Ggt>Cgt	p.G1042R		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1042					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAGAACCTGTGGTGTGAATGA	0.388													5	160					0	0	0	0	C	66725387	G	C	66725387	3	2	260	1	0	0	0	0	1	0	0	0	7095	1348	47	4	3170	4	HELB	12	66725387	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	9130449	66725387	67126508	144	46565											
IL22	50616	broad.mit.edu	37	chr12	68645319	68645319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgtccttcagcttttGcacattcctctggatatgca	7	15	7	12	0	2	0	1	0	1	0	4	1	4	1	2	1	3	3	2	1	1	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:68645319G>T	ENST00000538666.1	-	5	506	c.436C>A	c.(436-438)Caa>Aaa	p.Q146K	IL22_ENST00000328087.4_Missense_Mutation_p.Q146K			Q9GZX6	IL22_HUMAN	interleukin 22	146					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		TTCAGCTTTTGCACATTCCTC	0.363													23	134					3.73808e-20	4.90525e-20	1	0	T	68645319	G	T	68645319	3	4	260	1	0	0	0	0	1	0	0	0	7725	1328	46	4	111	4	IL22	12	68645319	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	1919932	68645319	65206576	145	46566											
MDM1	56890	broad.mit.edu	37	chr12	68719244	68719244	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attggctgcaaaagctggagCagtttctttagaagtcttcc	10	13	10	8	0	2	1	0	0	2	1	3	2	3	2	1	2	3	5	1	2	4	5	rs138314442		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:68719244C>A	ENST00000303145.7	-	4	696	c.610G>T	c.(610-612)Gct>Tct	p.A204S	MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000540418.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	204						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		AAAGCTGGAGCAGTTTCTTTA	0.348													103	380					2.98183e-41	4.04956e-41	1	0	A	68719244	C	A	68719244	3	1	260	1	0	0	0	0	1	0	0	0	9481	710	25	4	1578	4	MDM1	12	68719244	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	73925	68719244	65132651	146	46567											
STAB2	55576	broad.mit.edu	37	chr12	104118864	104118864	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttacctgccgcggcagcAtttatcaggtaacgcgagac	10	9	11	11	4	1	1	1	0	0	1	1	3	1	1	2	2	4	3	2	2	3	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:104118864A>T	ENST00000388887.2	+	45	4999	c.4795A>T	c.(4795-4797)Att>Ttt	p.I1599F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1599	FAS1 5.			IY -> HE (in Ref. 7; AAF82398).	angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCGCGGCAGCATTTATCAGGT	0.438													67	16					0	0	0	0	T	104118864	A	T	104118864	3	4	260	1	0	0	0	0	1	0	0	0	15328	217	8	5	4973	5	STAB2	12	104118864	Missense_Mutation	SNP	A	TCGA-CV-6948-01A-11D-1912-08	35399620	104118864	29733031	147	46568											
GLT8D2	83468	broad.mit.edu	37	chr12	104390557	104390557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctgagcagagggcaaatCgcagtcatctgagaaagccg	12	6	13	10	2	2	3	1	2	1	2	4	4	3	3	2	1	2	3	2	1	2	0	rs7133444		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr12:104390557C>T	ENST00000360814.4	-	8	961	c.556G>A	c.(556-558)Gat>Aat	p.D186N	GLT8D2_ENST00000548660.1_Missense_Mutation_p.D186N|GLT8D2_ENST00000546436.1_Missense_Mutation_p.D186N	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	186						integral to membrane	transferase activity, transferring glycosyl groups	p.D186N(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GAGGGCAAATCGCAGTCATCT	0.502													59	19					0	0	0	0	T	104390557	C	T	104390557	3	4	260	1	0	0	0	0	1	0	0	0	6521	884	31	1	509	1	GLT8D2	12	104390557	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	271693	104390557	29461338	148	46569											
CDK8	1024	broad.mit.edu	37	chr13	26975692	26975692	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcacacacagggacccccGttgaagaaagtgagagttgt	13	7	12	9	1	1	3	1	2	0	2	1	5	1	4	2	1	0	2	2	1	2	2	rs138501276		TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr13:26975692G>A	ENST00000381527.3	+	12	1703	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGGGACCCCCGTTGAAGAAAG	0.473													7	47					0	0	0	0	A	26975692	G	A	26975692	2	1	260	1	0	0	0	0	0	0	0	1	3179	1132	40	1		1	CDK8	13	26975692	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08		26975692	88194186	149	46570											
MYCBP2	23077	broad.mit.edu	37	chr13	77671556	77671556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtatggatgtgactcccCacacagttcacagatggtat	10	10	11	10	1	1	2	1	1	0	1	2	3	2	3	2	3	0	3	2	3	2	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr13:77671556C>G	ENST00000407578.2	-	56	9999	c.9733G>C	c.(9733-9735)Ggg>Cgg	p.G3245R	MYCBP2_ENST00000544440.2_Missense_Mutation_p.G3207R|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G3207R	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3207	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGTGACTCCCCACACAGTTCA	0.448													14	29					0	0	0	0	G	77671556	C	G	77671556	3	3	260	1	0	0	0	0	1	0	0	0	10088	594	21	4	4415	4	MYCBP2	13	77671556	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	50695864	77671556	37498322	150	46571											
SLITRK5	26050	broad.mit.edu	37	chr13	88327892	88327892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccctccccgtttcccaatCtaccacctcttgttgtccgg	5	12	6	18	2	2	0	0	0	2	0	5	0	5	0	7	1	2	2	7	1	2	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr13:88327892C>T	ENST00000325089.6	+	2	468	c.249C>T	c.(247-249)atC>atT	p.I83I	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	83						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTTTCCCAATCTACCACCTCT	0.453													84	138					0	0	0	0	T	88327892	C	T	88327892	2	4	260	1	0	0	0	0	0	0	0	1	14834	903	32	2		2	SLITRK5	13	88327892	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	10656336	88327892	26841986	151	46572											
SLITRK5	26050	broad.mit.edu	37	chr13	88328028	88328029	+	Frame_Shift_Ins	INS	-	-	G																															cggggctttccatgggctacINSggggtttgaggagattgcat																										TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr13:88328028_88328029insG	ENST00000325089.6	+	2	604_605	c.385_386insG	c.(385-387)gggfs	p.G129fs	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	129						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCATGGGCTACGGGGTTTGAGG	0.45													71	108	---	---	---	---					G	88328029	-	G	88328028	7	5	260	1	0	1	1	0	0	0	0	0	14834	527	19	0	387	0	SLITRK5	13	88328028	Frame_Shift_Ins	INS	-	TCGA-CV-6948-01A-11D-1912-08	136	88328028	26841850	152	46573											
F10	2159	broad.mit.edu	37	chr13	113777199	113777199	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactgcacctcgtcctgctCagtgcctccctggctggcct	3	10	9	19	1	1	0	1	0	0	0	4	0	3	0	6	2	3	3	6	2	0	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr13:113777199C>T	ENST00000375559.3	+	1	68	c.30C>T	c.(28-30)ctC>ctT	p.L10L	F10_ENST00000483537.1_3'UTR|F10_ENST00000375551.3_Silent_p.L10L|F10_ENST00000409306.1_Silent_p.L10L	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	10					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGTCCTGCTCAGTGCCTCCC	0.672													12	25					0	0	0	0	T	113777199	C	T	113777199	2	4	260	1	0	0	0	0	0	0	0	1	5374	813	29	2		2	F10	13	113777199	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	25449171	113777199	1392679	153	46574											
AP1G2	8906	broad.mit.edu	37	chr14	24034829	24034829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccacctgcaggaaggggtCgctgactccagatatgctgt	8	8	12	13	1	0	2	0	1	0	1	2	3	1	3	4	3	2	3	4	3	2	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:24034829C>T	ENST00000308724.5	-	6	1482	c.727G>A	c.(727-729)Gac>Aac	p.D243N	AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.D243N	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	243					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AGGAAGGGGTCGCTGACTCCA	0.557													16	31					0	0	0	0	T	24034829	C	T	24034829	3	4	260	1	0	0	0	0	1	0	0	0	734	884	31	1	1694	1	AP1G2	14	24034829	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08		24034829	83314711	154	46575											
NYNRIN	57523	broad.mit.edu	37	chr14	24884134	24884134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgacctcctgccaggggCagcttctccctacctgggca	6	8	10	17	1	1	0	0	0	1	0	4	1	2	0	5	3	3	3	5	3	1	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:24884134C>T	ENST00000382554.3	+	9	3497	c.3179C>T	c.(3178-3180)gCa>gTa	p.A1060V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1060					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGCCAGGGGCAGCTTCTCCC	0.647													9	121					0	0	0	0	T	24884134	C	T	24884134	3	4	260	1	0	0	0	0	1	0	0	0	10867	710	25	4	3209	4	NYNRIN	14	24884134	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	849305	24884134	82465406	155	46576											
KLHL28	54813	broad.mit.edu	37	chr14	45414307	45414307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagcacagcgaggtcgtgtCatcaagactgtctgatgaga	11	8	14	8	2	3	3	2	2	1	2	4	6	3	4	0	2	2	1	0	2	1	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:45414307C>T	ENST00000396128.4	-	2	944	c.825G>A	c.(823-825)atG>atA	p.M275I	KLHL28_ENST00000355081.2_Missense_Mutation_p.M289I	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	275										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAGGTCGTGTCATCAAGACTG	0.418													50	65					0	0	0	0	T	45414307	C	T	45414307	3	4	260	1	0	0	0	0	1	0	0	0	8434	826	29	2	906	2	KLHL28	14	45414307	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	20530173	45414307	61935233	156	46577											
SOS2	6655	broad.mit.edu	37	chr14	50616839	50616839	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatatgccattcaattggTggaggtggactttcaaaggt	10	13	12	6	0	2	1	2	1	0	0	2	3	2	3	1	5	1	0	1	5	3	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:50616839T>A	ENST00000216373.5	-	14	2545	c.2271A>T	c.(2269-2271)ccA>ccT	p.P757P	SOS2_ENST00000543680.1_Silent_p.P724P	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	757	Poly-Pro.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATTCAATTGGTGGAGGTGGAC	0.408													50	94					0	0	0	0	A	50616839	T	A	50616839	2	1	260	1	0	0	0	0	0	0	0	1	15025	1683	59	5		5	SOS2	14	50616839	Silent	SNP	T	TCGA-CV-6948-01A-11D-1912-08	5202532	50616839	56732701	157	46578											
SYNE2	23224	broad.mit.edu	37	chr14	64518544	64518544	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaataaggtacaggacaCtgagatttctctgcaacagc	14	9	9	9	0	1	2	0	2	1	1	2	4	1	3	0	2	4	2	0	2	4	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:64518544C>G	ENST00000358025.3	+	48	8143	c.7913C>G	c.(7912-7914)aCt>aGt	p.T2638S	SYNE2_ENST00000554584.1_Missense_Mutation_p.T2671S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.T2638S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2638					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTACAGGACACTGAGATTTCT	0.448													14	99					0	0	0	0	G	64518544	C	G	64518544	3	3	260	1	0	0	0	0	1	0	0	0	15537	565	20	4	8099	4	SYNE2	14	64518544	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	13901705	64518544	42830996	158	46579											
MTHFD1	4522	broad.mit.edu	37	chr14	64891551	64891551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaatgggagaaaagttGtgggtgatgtggcatacgac	14	8	14	5	1	0	2	0	1	0	1	0	4	0	2	1	3	2	2	1	3	5	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:64891551G>T	ENST00000555709.1	+	9	1144	c.757G>T	c.(757-759)Gtg>Ttg	p.V253L	MTHFD1_ENST00000545908.1_Missense_Mutation_p.V309L|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.7_Missense_Mutation_p.V309L|MTHFD1_ENST00000555252.1_Missense_Mutation_p.V233L	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	253	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GAGAAAAGTTGTGGGTGATGT	0.488													4	38					1.23904e-05	1.48208e-05	1	0	T	64891551	G	T	64891551	3	4	260	1	0	0	0	0	1	0	0	0	9997	1377	48	4	791	4	MTHFD1	14	64891551	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	373007	64891551	42457989	159	46580											
ARG2	384	broad.mit.edu	37	chr14	68108986	68108986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacctgatagtgaatccaCgctcagtgggtcttgccaac	11	9	9	12	1	2	2	1	2	1	0	3	2	3	2	3	1	3	1	3	1	4	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:68108986C>T	ENST00000261783.3	+	3	448	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	90					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	AGTGAATCCACGCTCAGTGGG	0.507													24	31					0	0	0	0	T	68108986	C	T	68108986	3	4	260	1	0	0	0	0	1	0	0	0	860	536	19	1	278	1	ARG2	14	68108986	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	3217435	68108986	39240554	160	46581											
CCDC88C	440193	broad.mit.edu	37	chr14	91787565	91787565	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcccctggatggtgctctGgaggctctgattctccttct	4	13	11	13	0	4	1	0	1	4	0	5	3	4	3	3	4	2	2	3	4	0	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:91787565G>A	ENST00000389857.6	-	13	1512	c.1426C>T	c.(1426-1428)Cag>Tag	p.Q476*		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	476					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ATGGTGCTCTGGAGGCTCTGA	0.587													8	14					0	0	0	0	A	91787565	G	A	91787565	4	1	260	1	0	0	0	0	0	1	0	0	2892	1357	47	4	4732	4	CCDC88C	14	91787565	Nonsense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	23678579	91787565	15561975	161	46582											
PPP4R4	57718	broad.mit.edu	37	chr14	94722876	94722876	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatctacttcagcagttaGaaatgtgtgtgaggaaactc	13	11	10	7	0	2	2	1	1	1	1	3	3	2	3	0	1	4	3	0	1	4	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:94722876G>T	ENST00000304338.3	+	17	2099	c.1945G>T	c.(1945-1947)Gaa>Taa	p.E649*		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	649						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TCAGCAGTTAGAAATGTGTGT	0.348													5	26					0.000602214	0.000704093	1	0	T	94722876	G	T	94722876	4	4	260	1	0	0	0	0	0	1	0	0	12481	943	33	2	2084	2	PPP4R4	14	94722876	Nonsense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	2935311	94722876	12626664	162	46583											
HHIPL1	84439	broad.mit.edu	37	chr14	100125954	100125954	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctcgggcactggccgCgggcgcctcttctgcggcga	2	7	14	18	6	2	0	0	0	2	0	4	1	3	0	4	4	1	1	4	4	0	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:100125954C>T	ENST00000330710.5	+	4	1334	c.1236C>T	c.(1234-1236)cgC>cgT	p.R412R	HHIPL1_ENST00000357223.2_Silent_p.R412R	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	412					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCACTGGCCGCGGGCGCCTCT	0.726													6	4					0	0	0	0	T	100125954	C	T	100125954	2	4	260	1	0	0	0	0	0	0	0	1	7143	755	27	1		1	HHIPL1	14	100125954	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	5403078	100125954	7223586	163	46584											
AHNAK2	113146	broad.mit.edu	37	chr14	105421961	105421961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcgtcacctctgttgcctCctggacagcctggagcagaa	8	8	11	14	1	2	1	1	0	1	1	3	3	3	3	4	2	4	2	4	2	1	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr14:105421961C>T	ENST00000333244.5	-	5	444	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	109						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTGTTGCCTCCTGGACAGCC	0.602													30	48					0	0	0	0	T	105421961	C	T	105421961	3	4	260	1	0	0	0	0	1	0	0	0	415	864	30	2	17074	2	AHNAK2	14	105421961	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	5296007	105421961	1927579	164	46585											
ATP8B4	79895	broad.mit.edu	37	chr15	50264849	50264849	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagggtacccgttttgtcGgagaaaatgtactcaatctg	10	12	12	7	2	2	2	1	1	1	1	3	3	2	2	1	2	2	3	1	2	5	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr15:50264849G>T	ENST00000284509.6	-	13	1314	c.1173C>A	c.(1171-1173)tcC>tcA	p.S391S	ATP8B4_ENST00000559829.1_Silent_p.S391S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	391					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCGTTTTGTCGGAGAAAATGT	0.433													20	3					3.7963e-18	4.96072e-18	1	0	T	50264849	G	T	50264849	2	4	260	1	0	0	0	0	0	0	0	1	1201	1103	39	3		3	ATP8B4	15	50264849	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08		50264849	52266543	165	46586											
USP8	9101	broad.mit.edu	37	chr15	50769168	50769168	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actccacccccacgacgccaGaatgaagaggtgtctatctc	11	7	8	15	2	2	3	0	1	2	2	4	4	3	3	4	1	0	0	4	1	3	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr15:50769168G>A	ENST00000433963.1	+	10	1472	c.972G>A	c.(970-972)caG>caA	p.Q324Q	USP8_ENST00000425032.3_Silent_p.Q247Q|USP8_ENST00000307179.4_Silent_p.Q324Q|USP8_ENST00000396444.3_Silent_p.Q324Q	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	324					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CACGACGCCAGAATGAAGAGG	0.393													26	14					0	0	0	0	A	50769168	G	A	50769168	2	1	260	1	0	0	0	0	0	0	0	1	17185	933	33	2		2	USP8	15	50769168	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	504319	50769168	51762224	166	46587											
CSPG4	1464	broad.mit.edu	37	chr15	75982451	75982451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagaaggagactgccccGtggctccaggtagctgagga	9	5	15	12	2	0	3	0	1	0	2	1	6	1	4	4	4	2	3	4	4	2	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr15:75982451G>A	ENST00000308508.5	-	3	1047	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	319	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGACTGCCCCGTGGCTCCAGG	0.617													12	7					0	0	0	0	A	75982451	G	A	75982451	3	1	260	1	0	0	0	0	1	0	0	0	3992	1144	40	1	6045	1	CSPG4	15	75982451	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	25213283	75982451	26548941	167	46588											
HDGFRP3	50810	broad.mit.edu	37	chr15	83820108	83820108	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatttccgggactgtttagaGgatttctaaatgtttagaca	11	15	10	5	1	1	2	0	0	1	2	2	5	2	4	1	2	0	2	1	2	4	7			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr15:83820108G>A	ENST00000299633.4	-	5	1068	c.465C>T	c.(463-465)tcC>tcT	p.S155S		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		155					cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						ACTGTTTAGAGGATTTCTAAA	0.393													17	31					0	0	0	0	A	83820108	G	A	83820108	2	1	260	1	0	0	0	0	0	0	0	1	7071	987	35	4		4	HDGFRP3	15	83820108	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	7837657	83820108	18711284	168	46589											
CACNA1H	8912	broad.mit.edu	37	chr16	1245997	1245997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccgtgcgggtgctgcggcCcctccgcgccatcaaccgcg	4	5	14	18	7	1	0	1	0	0	0	2	1	2	0	6	2	4	1	6	2	1	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:1245997C>T	ENST00000348261.5	+	5	865	c.617C>T	c.(616-618)cCc>cTc	p.P206L	CACNA1H_ENST00000565831.1_Missense_Mutation_p.P206L|CACNA1H_ENST00000358590.4_Missense_Mutation_p.P206L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	206					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GTGCTGCGGCCCCTCCGCGCC	0.657													41	56					0	0	0	0	T	1245997	C	T	1245997	3	4	260	1	0	0	0	0	1	0	0	0	2570	623	22	4	631	4	CACNA1H	16	1245997	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08		1245997	89108756	169	46590											
RAB26	25837	broad.mit.edu	37	chr16	2201695	2201695	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagtgcctgtcgctgcaGatgtgggacacagctggtca	8	8	14	11	1	1	1	1	0	0	1	2	3	1	2	2	2	3	3	2	2	0	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:2201695G>T	ENST00000210187.6	+	4	508		c.e4-1		RAB26_ENST00000541451.1_Splice_Site	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family						exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						TGTCGCTGCAGATGTGGGACA	0.622													16	31					7.05477e-17	9.10387e-17	1	0	T	2201695	G	T	2201695	5	4	260	1	0	0	0	0	0	0	1	0	12995	956	33	2	362	2	RAB26	16	2201695	Splice_Site	SNP	G	TCGA-CV-6948-01A-11D-1912-08	955698	2201695	88153058	170	46591											
RAB26	25837	broad.mit.edu	37	chr16	2203334	2203334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagggagttgaagcagcGctccatgaaggctcccagcg	9	5	14	13	3	0	2	0	2	0	0	2	3	2	3	3	2	3	5	3	2	2	1	rs149402189	byFrequency	TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:2203334G>A	ENST00000210187.6	+	9	843	c.683G>A	c.(682-684)cGc>cAc	p.R228H	RAB26_ENST00000541451.1_Missense_Mutation_p.R162H	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	228					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						TTGAAGCAGCGCTCCATGAAG	0.642													26	48					0	0	0	0	A	2203334	G	A	2203334	3	1	260	1	0	0	0	0	1	0	0	0	12995	1087	38	1	717	1	RAB26	16	2203334	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	1639	2203334	88151419	171	46592											
USP7	7874	broad.mit.edu	37	chr16	8990890	8990890	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttctccccaagctccaCggcctttttacattcttcta	6	16	4	15	1	3	0	0	0	3	0	5	0	4	0	4	1	3	2	4	1	3	7			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:8990890C>G	ENST00000344836.4	-	26	2983	c.2785G>C	c.(2785-2787)Gtg>Ctg	p.V929L	USP7_ENST00000381886.4_Missense_Mutation_p.V913L|USP7_ENST00000535863.1_Missense_Mutation_p.V830L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	929					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CCAAGCTCCACGGCCTTTTTA	0.438													13	251					0	0	0	0	G	8990890	C	G	8990890	3	3	260	1	0	0	0	0	1	0	0	0	17184	536	19	3	547	3	USP7	16	8990890	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	6787556	8990890	81363863	172	46593											
CIITA	4261	broad.mit.edu	37	chr16	11004076	11004076	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcggaagacacagctgggGagctccctgctgttcgggac	7	7	14	13	2	0	1	0	0	0	1	3	4	1	4	2	4	3	4	2	4	1	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:11004076G>T	ENST00000324288.8	+	13	2981	c.2848G>T	c.(2848-2850)Gag>Tag	p.E950*	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Nonsense_Mutation_p.E366*	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	950			Missing (in BLS2).		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CACAGCTGGGGAGCTCCCTGC	0.557			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								11	22					0.00010058	0.000118937	1	0	T	11004076	G	T	11004076	4	4	260	1	0	0	0	0	0	1	0	0	3457	1175	41	2	2898	2	CIITA	16	11004076	Nonsense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	2013186	11004076	79350677	173	46594											
MYH11	4629	broad.mit.edu	37	chr16	15797863	15797863	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgcttattcactggccttGgttccattgaagtctgcgtc	5	16	10	10	1	2	1	1	1	1	0	4	1	3	1	2	2	2	3	2	2	2	6			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:15797863G>A	ENST00000396324.3	-	42	6012	c.5925C>T	c.(5923-5925)acC>acT	p.T1975T	MYH11_ENST00000573908.1_5'UTR|MYH11_ENST00000300036.5_Silent_p.T1968T|MYH11_ENST00000338282.6_3'UTR|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.1_3'UTR|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_3'UTR	NM_001040114.1	NP_001035203.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1968					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CACTGGCCTTGGTTCCATTGA	0.428			T	CBFB	AML								111	153					0	0	0	0	A	15797863	G	A	15797863	2	1	260	1	0	0	0	0	0	0	0	1	10101	1335	47	4		4	MYH11	16	15797863	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	4793787	15797863	74556890	174	46595											
ZNF768	79724	broad.mit.edu	37	chr16	30536326	30536326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctggctatagcacttgcCgcactcggtgcagctgtagg	6	11	13	11	2	1	0	0	0	1	0	2	0	1	0	1	3	4	7	1	3	3	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:30536326C>A	ENST00000380412.5	-	2	1310	c.1135G>T	c.(1135-1137)Ggc>Tgc	p.G379C	ZNF768_ENST00000562803.1_Missense_Mutation_p.G348C	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	379					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TAGCACTTGCCGCACTCGGTG	0.637													23	20					2.41591e-17	3.13062e-17	1	0	A	30536326	C	A	30536326	3	1	260	1	0	0	0	0	1	0	0	0	18235	652	23	3	491	3	ZNF768	16	30536326	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	14738463	30536326	59818427	175	46596											
ITGAD	3681	broad.mit.edu	37	chr16	31422110	31422110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacagaacctggtcctggggGccccccgctaccagcatacc	8	6	10	17	1	0	1	0	0	0	1	1	1	1	1	7	3	5	2	7	3	4	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:31422110G>T	ENST00000389202.2	+	12	1316	c.1267G>T	c.(1267-1269)Gcc>Tcc	p.A423S		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	423					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTCCTGGGGGCCCCCCGCTA	0.642													25	53					7.38237e-10	9.07477e-10	1	0	T	31422110	G	T	31422110	3	4	260	1	0	0	0	0	1	0	0	0	7937	1203	42	4	1313	4	ITGAD	16	31422110	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	885784	31422110	58932643	176	46597											
RFWD3	55159	broad.mit.edu	37	chr16	74695292	74695292	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcaggagctggctgtTgttcggcatgatttaactgc	7	12	13	9	1	0	1	0	1	0	0	1	2	0	2	1	3	5	6	1	3	1	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:74695292T>A	ENST00000361070.4	-	2	153	c.56A>T	c.(55-57)cAa>cTa	p.Q19L	RFWD3_ENST00000571750.1_Missense_Mutation_p.Q19L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	19					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						AGCTGGCTGTTGTTCGGCATG	0.483													112	170					0	0	0	0	A	74695292	T	A	74695292	3	1	260	1	0	0	0	0	1	0	0	0	13343	1812	63	5	2316	5	RFWD3	16	74695292	Missense_Mutation	SNP	T	TCGA-CV-6948-01A-11D-1912-08	43273182	74695292	15659461	177	46598											
GAN	8139	broad.mit.edu	37	chr16	81399047	81399047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtagcgagatggtaaCttgcaagtccgagttctacc	10	9	12	10	2	1	1	0	0	1	1	2	3	2	1	3	2	4	4	3	2	4	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr16:81399047C>T	ENST00000248272.3	+	9	1628	c.1466C>T	c.(1465-1467)aCt>aTt	p.T489I	GAN_ENST00000567335.1_3'UTR	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	489					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GAGATGGTAACTTGCAAGTCC	0.468													93	96					0	0	0	0	T	81399047	C	T	81399047	3	4	260	1	0	0	0	0	1	0	0	0	6281	565	20	4	1500	4	GAN	16	81399047	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	6703755	81399047	8955706	178	46599											
ITGAE	3682	broad.mit.edu	37	chr17	3631298	3631298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgcaactggtattctgctCcaaagaggttctccccatgt	8	14	8	11	0	2	1	0	0	2	1	4	1	3	1	3	2	3	4	3	2	3	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:3631298C>T	ENST00000263087.4	-	26	3097	c.2999G>A	c.(2998-3000)gGa>gAa	p.G1000E	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	1000					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GTATTCTGCTCCAAAGAGGTT	0.418													36	42					0	0	0	0	T	3631298	C	T	3631298	3	4	260	1	0	0	0	0	1	0	0	0	7938	855	30	2	564	2	ITGAE	17	3631298	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08		3631298	77563912	179	46600											
TP53	7157	broad.mit.edu	37	chr17	7576928	7576928	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggtgttgttgggcagtgcTaggaaagaggcaaggaaagg	11	8	18	4	0	0	1	0	0	0	1	0	3	0	3	0	6	1	5	0	6	4	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:7576928T>C	ENST00000420246.2	-	9	1052		c.e9-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGGCAGTGCTAGGAAAGAGG	0.493		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			46	45					0	0	0	0	C	7576928	T	C	7576928	5	2	260	1	0	0	0	0	0	0	1	0	16476	1536	53	5	364	5	TP53	17	7576928	Splice_Site	SNP	T	TCGA-CV-6948-01A-11D-1912-08	3945630	7576928	73618282	180	46601											
TP53	7157	broad.mit.edu	37	chr17	7577032	7577033	+	Frame_Shift_Del	DEL	CC	CC	-																															tgcttacctcgcttagtgctCcctgggggcagctcgtggtg																										TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:7577032_7577033delCC	ENST00000420246.2	-	8	1037_1038	c.905_906delGG	c.(904-906)gfs	p.G302fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.G302fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.G302fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.G302fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.G302fs|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	302	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in a sporadic cancer; somatic mutation).|G -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(3)|p.G302E(3)|p.G302G(3)|p.P301_S303delPGS(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.G302fs*2(1)|p.S303fs*42(1)|p.G293fs*1(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCTTAGTGCTCCCTGGGGGCAG	0.554		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			43	70	---	---	---	---					-	7577033	CC	-	7577032	7	5	260	1	0	1	0	1	0	0	0	0	16476	842	30	0	380	0	TP53	17	7577032	Frame_Shift_Del	DEL	CC	TCGA-CV-6948-01A-11D-1912-08	104	7577032	73618178	181	46602											
NOS2	4843	broad.mit.edu	37	chr17	26125804	26125804	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgcatactggtggaatttgGtcttgaacagaaatttccaa	12	14	9	6	0	1	2	0	1	1	1	2	3	2	3	1	3	3	1	1	3	5	5			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:26125804G>C	ENST00000313735.6	-	2	265	c.32C>G	c.(31-33)aCc>aGc	p.T11S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	11					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GTGGAATTTGGTCTTGAACAG	0.458													33	33					0	0	0	0	C	26125804	G	C	26125804	3	2	260	1	0	0	0	0	1	0	0	0	10613	1261	44	4	3533	4	NOS2	17	26125804	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	18548772	26125804	55069406	182	46603											
SUPT6H	6830	broad.mit.edu	37	chr17	27009843	27009843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagagcagtttcccgcggagCccttggagctggccaaggat	8	7	14	12	2	0	1	0	0	0	1	1	4	1	4	3	4	3	3	3	4	1	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:27009843C>T	ENST00000314616.6	+	14	1979	c.1696C>T	c.(1696-1698)Ccc>Tcc	p.P566S	SUPT6H_ENST00000347486.4_Missense_Mutation_p.P566S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	566					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCCCGCGGAGCCCTTGGAGCT	0.602													33	46					0	0	0	0	T	27009843	C	T	27009843	3	4	260	1	0	0	0	0	1	0	0	0	15490	739	26	4	1746	4	SUPT6H	17	27009843	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	884039	27009843	54185367	183	46604											
AATF	26574	broad.mit.edu	37	chr17	35306512	35306512	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgaagcggaccccgaGgaaggtgaggccggactggg	9	3	18	11	3	0	2	0	2	0	0	0	7	0	5	4	6	1	0	4	6	2	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:35306512G>A	ENST00000225402.5	+	1	338	c.87G>A	c.(85-87)gaG>gaA	p.E29E		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	29					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				CGGACCCCGAGGAAGGTGAGG	0.746													3	6					0	0	0	0	A	35306512	G	A	35306512	2	1	260	1	0	0	0	0	0	0	0	1	25	991	35	4		4	AATF	17	35306512	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	8296669	35306512	45888698	184	46605											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274113	39274113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcaggggcggcagcagctgGattcacagcaagaggggcgg	10	3	19	9	2	1	1	1	0	0	1	1	2	1	2	0	7	4	5	0	7	1	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:39274113G>A	ENST00000391413.2	-	1	493	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	152	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcagcagctggattcacagca	0.657													9	27					0	0	0	0	A	39274113	G	A	39274113	3	1	260	1	0	0	0	0	1	0	0	0	8602	1174	41	2	136	2	KRTAP4-11	17	39274113	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	3967601	39274113	41921097	185	46606											
AKAP1	8165	broad.mit.edu	37	chr17	55189196	55189197	+	Frame_Shift_Ins	INS	-	-	T																															attggcaagcaggggcgctaINStgtgagttttctgaagcaaa																										TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:55189196_55189197insT	ENST00000337714.3	+	4	2119_2120	c.1886_1887insT	c.(1885-1887)tgtfs	p.C629fs	AKAP1_ENST00000539273.1_Frame_Shift_Ins_p.C629fs|AKAP1_ENST00000572557.1_Frame_Shift_Ins_p.C629fs|AKAP1_ENST00000571629.1_Frame_Shift_Ins_p.C629fs	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	629	KH.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CAGGGGCGCTATGTGAGTTTTC	0.48													86	100	---	---	---	---					T	55189197	-	T	55189196	7	5	260	1	0	1	1	0	0	0	0	0	445	449	16	0	1896	0	AKAP1	17	55189196	Frame_Shift_Ins	INS	-	TCGA-CV-6948-01A-11D-1912-08	15915083	55189196	26006014	186	46607											
RNFT1	51136	broad.mit.edu	37	chr17	58042024	58042024	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgacagcaagaacagcggcaTacaccgcctccagcccttca	12	4	8	17	3	1	1	1	0	0	1	2	2	2	1	4	1	5	2	4	1	3	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:58042024T>C	ENST00000305783.8	-	1	56	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_5'UTR	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	1						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			AACAGCGGCATACACCGCCTC	0.701													6	9					0	0	0	0	C	58042024	T	C	58042024	1	2	260	1	0	0	0	0	0	0	0	0	13586	1406	49	5		5	RNFT1	17	58042024	Translation_Start_Site	SNP	T	TCGA-CV-6948-01A-11D-1912-08	2852828	58042024	23153186	187	46608											
TLK2	11011	broad.mit.edu	37	chr17	60685501	60685501	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagccagtagtaacacctGaagcaaaggtaagttttgtt	15	10	9	7	0	0	1	0	1	0	0	0	1	0	1	2	1	3	6	2	1	6	6			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:60685501G>C	ENST00000582809.1	+	22	2327	c.1624G>C	c.(1624-1626)Gaa>Caa	p.E542Q	TLK2_ENST00000346027.5_Missense_Mutation_p.E691Q|TLK2_ENST00000542523.1_Missense_Mutation_p.E659Q|TLK2_ENST00000343388.7_Missense_Mutation_p.E659Q|TLK2_ENST00000326270.9_Missense_Mutation_p.E713Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	713	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGTAACACCTGAAGCAAAGGT	0.433													35	29					0	0	0	0	C	60685501	G	C	60685501	3	2	260	1	0	0	0	0	1	0	0	0	16038	1291	45	2	2149	2	TLK2	17	60685501	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	2643477	60685501	20509709	188	46609											
RECQL5	9400	broad.mit.edu	37	chr17	73624385	73624385	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggagacgccaggagcGgagagctggaaggggtcttg	10	6	18	7	2	2	2	1	0	1	2	2	6	2	4	1	6	2	1	1	6	2	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:73624385G>A	ENST00000317905.5	-	18	2877	c.2718C>T	c.(2716-2718)tcC>tcT	p.S906S	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.S879S	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	906					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.S879S(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGCCAGGAGCGGAGAGCTGGA	0.597								Other identified genes with known or suspected DNA repair function					8	49					0	0	0	0	A	73624385	G	A	73624385	2	1	260	1	0	0	0	0	0	0	0	1	13285	1103	39	1		1	RECQL5	17	73624385	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	12938884	73624385	7570825	189	46610											
RNF213	57674	broad.mit.edu	37	chr17	78322014	78322014	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttcacagacagaggcaCaactcctttgcagatttcct	11	12	6	12	0	1	3	1	0	0	3	3	3	3	3	2	1	3	2	2	1	2	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr17:78322014C>A	ENST00000582970.1	+	29	10022	c.9879C>A	c.(9877-9879)caC>caA	p.H3293Q	RNF213_ENST00000508628.2_Missense_Mutation_p.H3342Q|RNF213_ENST00000336301.6_Missense_Mutation_p.H1366Q	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACAGAGGCACAACTCCTTTG	0.597													3	44					6.4e-05	7.62605e-05	1	0	A	78322014	C	A	78322014	3	1	260	1	0	0	0	0	1	0	0	0	13562	477	17	4	10308	4	RNF213	17	78322014	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	4697629	78322014	2873196	190	46611											
PTPRM	5797	broad.mit.edu	37	chr18	8296397	8296397	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcagtctgcaccatgggActcggctaagaaagatgaga	13	6	14	8	1	1	3	0	1	1	3	2	5	1	4	1	3	1	3	1	3	2	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr18:8296397A>C	ENST00000332175.8	+	18	3784	c.2747A>C	c.(2746-2748)gAc>gCc	p.D916A	PTPRM_ENST00000400060.4_Missense_Mutation_p.D930A|PTPRM_ENST00000580170.1_Missense_Mutation_p.D929A|PTPRM_ENST00000444013.1_Missense_Mutation_p.D703A|PTPRM_ENST00000400053.4_Missense_Mutation_p.D854A	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	916	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCACCATGGGACTCGGCTAAG	0.423													3	38					0	0	0	0	C	8296397	A	C	8296397	3	2	260	1	0	0	0	0	1	0	0	0	12888	275	10	5	2864	5	PTPRM	18	8296397	Missense_Mutation	SNP	A	TCGA-CV-6948-01A-11D-1912-08		8296397	69780851	191	46612											
ZNF846	162993	broad.mit.edu	37	chr19	9868519	9868519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagtgtgaatccttacatGttgactaagcattgaggaat	12	13	9	7	0	0	3	0	3	0	0	2	4	2	4	2	1	2	2	2	1	4	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:9868519G>T	ENST00000397902.2	-	6	1647	c.1234C>A	c.(1234-1236)Cat>Aat	p.H412N	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						ATCCTTACATGTTGACTAAGC	0.403													28	52					4.22769e-11	5.2383e-11	1	0	T	9868519	G	T	9868519	3	4	260	1	0	0	0	0	1	0	0	0	18285	1377	48	4	371	4	ZNF846	19	9868519	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08		9868519	49260464	192	46613											
KRI1	65095	broad.mit.edu	37	chr19	10675688	10675688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcgttttgtaaaagtccCgctcctgctggggatcaaat	10	11	11	9	2	1	1	1	0	0	1	3	2	3	2	2	2	2	4	2	2	3	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:10675688C>T	ENST00000312962.6	-	3	228	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	KRI1_ENST00000361821.5_Missense_Mutation_p.R66Q|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	70										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GTAAAAGTCCCGCTCCTGCTG	0.522											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	65					0	0	0	0	T	10675688	C	T	10675688	3	4	260	1	0	0	0	0	1	0	0	0	8496	652	23	1	1988	1	KRI1	19	10675688	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	807169	10675688	48453295	193	46614											
CCDC151	115948	broad.mit.edu	37	chr19	11537725	11537725	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgtgtgtctgttttgcgcctCcgccatctccagaaggcgca	5	11	11	14	4	2	1	0	0	2	1	4	1	3	1	4	1	1	2	4	1	1	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:11537725C>G	ENST00000356392.4	-	4	667	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	CCDC151_ENST00000545100.1_Missense_Mutation_p.E140Q|CCDC151_ENST00000586836.1_Missense_Mutation_p.E3Q|CCDC151_ENST00000591179.1_Missense_Mutation_p.E168Q	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	194										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TTTTGCGCCTCCGCCATCTCC	0.677													30	45					0	0	0	0	G	11537725	C	G	11537725	3	3	260	1	0	0	0	0	1	0	0	0	2811	864	30	2	1247	2	CCDC151	19	11537725	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	862037	11537725	47591258	194	46615											
OR7C2	26658	broad.mit.edu	37	chr19	15052714	15052714	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacacggtcatcatgaacccCcggctctgtggactgctggt	7	10	11	13	2	3	1	2	1	1	0	3	2	3	2	2	4	3	2	2	4	2	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:15052714C>A	ENST00000248072.3	+	1	414	c.414C>A	c.(412-414)ccC>ccA	p.P138P		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCATGAACCCCCGGCTCTGTG	0.537													64	115					2.89935e-36	3.86995e-36	1	0	A	15052714	C	A	15052714	2	1	260	1	0	0	0	0	0	0	0	1	11289	610	22	4		4	OR7C2	19	15052714	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	3514989	15052714	44076269	195	46616											
NOTCH3	4854	broad.mit.edu	37	chr19	15288423	15288423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcggggtcgcagcggctgTtgttgaagaggcgccagcac	7	6	18	10	4	0	2	0	1	0	1	1	2	0	2	1	5	2	5	1	5	1	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:15288423T>C	ENST00000263388.2	-	24	4391	c.4316A>G	c.(4315-4317)aAc>aGc	p.N1439S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1439					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCAGCGGCTGTTGTTGAAGAG	0.701													7	2					0	0	0	0	C	15288423	T	C	15288423	3	2	260	1	0	0	0	0	1	0	0	0	10620	1725	60	5	2689	5	NOTCH3	19	15288423	Missense_Mutation	SNP	T	TCGA-CV-6948-01A-11D-1912-08	235709	15288423	43840560	196	46617											
AKAP8L	26993	broad.mit.edu	37	chr19	15514345	15514345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctccaaatgcggcacCatatctaagcgctggttaat	10	12	8	11	2	3	0	0	0	3	0	4	0	3	0	2	2	2	3	2	2	4	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:15514345C>T	ENST00000397410.4	-	4	367	c.303G>A	c.(301-303)atG>atA	p.M101I	AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Intron	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	101						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						AATGCGGCACCATATCTAAGC	0.537													65	101					0	0	0	0	T	15514345	C	T	15514345	3	4	260	1	0	0	0	0	1	0	0	0	458	594	21	4	1681	4	AKAP8L	19	15514345	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	225922	15514345	43614638	197	46618											
OR10H5	284433	broad.mit.edu	37	chr19	15905429	15905429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgaagttggcctgtggaGatgatgtgctggtggtggcc	5	13	18	5	0	0	3	0	2	0	1	0	4	0	3	2	5	1	3	2	5	1	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:15905429G>A	ENST00000308940.8	+	1	669	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						GGCCTGTGGAGATGATGTGCT	0.572													6	86					0	0	0	0	A	15905429	G	A	15905429	3	1	260	1	0	0	0	0	1	0	0	0	10980	942	33	2	573	2	OR10H5	19	15905429	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	391084	15905429	43223554	198	46619											
SLC5A5	6528	broad.mit.edu	37	chr19	17988641	17988641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcaggtgcagcgctacGtggcttgccgcacagagaag	9	5	16	11	4	0	1	0	0	0	1	0	2	0	1	1	3	4	5	1	3	2	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:17988641G>A	ENST00000222248.3	+	6	1155	c.808G>A	c.(808-810)Gtg>Atg	p.V270M		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	270					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCAGCGCTACGTGGCTTGCCG	0.607													45	67					0	0	0	0	A	17988641	G	A	17988641	3	1	260	1	0	0	0	0	1	0	0	0	14756	1145	40	1	830	1	SLC5A5	19	17988641	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	2083212	17988641	41140342	199	46620											
KIAA1683	80726	broad.mit.edu	37	chr19	18368445	18368445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactggaagcagcgatggtCagatactgtcctggctctgc	8	9	14	10	1	2	1	1	0	1	1	3	4	3	3	1	4	4	2	1	4	2	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:18368445C>T	ENST00000392413.3	-	4	3864	c.3649G>A	c.(3649-3651)Gac>Aac	p.D1217N	KIAA1683_ENST00000600328.2_Missense_Mutation_p.D1030N|KIAA1683_ENST00000600359.2_Missense_Mutation_p.D984N	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGCGATGGTCAGATACTGTC	0.657													25	44					0	0	0	0	T	18368445	C	T	18368445	3	4	260	1	0	0	0	0	1	0	0	0	8302	826	29	2	458	2	KIAA1683	19	18368445	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	379804	18368445	40760538	200	46621											
ZNF737	100129842	broad.mit.edu	37	chr19	20736633	20736633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggccacgtctctaaattgCaatggcccctgaaacacaca	13	8	7	13	1	1	1	0	1	1	0	2	1	1	1	3	2	2	1	3	2	4	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:20736633C>T	ENST00000427401.4	-	2	106	c.12G>A	c.(10-12)ttG>ttA	p.L4L	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF737_ENST00000596797.1_Silent_p.L4L	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	4					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTCTAAATTGCAATGGCCCCT	0.403													36	44					0	0	0	0	T	20736633	C	T	20736633	2	4	260	1	0	0	0	0	0	0	0	1	18220	709	25	4		4	ZNF737	19	20736633	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	2368188	20736633	38392350	201	46622											
ZNF507	22847	broad.mit.edu	37	chr19	32844322	32844322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcccaacagtgcgtaagcCcctccagctctttgtgtcgg	8	9	10	14	2	1	0	0	0	1	0	3	0	2	0	4	1	5	2	4	1	3	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:32844322C>T	ENST00000311921.3	+	2	778	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	ZNF507_ENST00000544431.1_Missense_Mutation_p.P196S|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.P196S	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GTGCGTAAGCCCCTCCAGCTC	0.468													37	49					0	0	0	0	T	32844322	C	T	32844322	3	4	260	1	0	0	0	0	1	0	0	0	18048	623	22	4	588	4	ZNF507	19	32844322	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	12107689	32844322	26284661	202	46623											
HNRNPL	3191	broad.mit.edu	37	chr19	39336596	39336596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagatcttctggctggtaGagtagttgacaaaagctggg	10	10	16	5	0	2	3	0	1	2	2	2	4	2	3	0	4	1	5	0	4	4	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:39336596G>C	ENST00000221419.5	-	3	887	c.521C>G	c.(520-522)tCt>tGt	p.S174C	HNRNPL_ENST00000600873.1_Missense_Mutation_p.S41C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	174	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTGGCTGGTAGAGTAGTTGAC	0.522													51	98					0	0	0	0	C	39336596	G	C	39336596	3	2	260	1	0	0	0	0	1	0	0	0	7320	942	33	2	1292	2	HNRNPL	19	39336596	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	6492274	39336596	19792387	203	46624											
CLPTM1	1209	broad.mit.edu	37	chr19	45496120	45496120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcgagccccaggaagccCctccaaagccagcagaggac	12	1	11	17	1	0	1	0	0	0	1	1	4	1	3	7	2	5	1	7	2	2	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:45496120C>T	ENST00000541297.2	+	14	2398	c.1933C>T	c.(1933-1935)Cct>Tct	p.P645S	CLPTM1_ENST00000546079.1_Missense_Mutation_p.P557S|CLPTM1_ENST00000337392.5_Missense_Mutation_p.P659S			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	659					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)		CCAGGAAGCCCCTCCAAAGCC	0.682													20	33					0	0	0	0	T	45496120	C	T	45496120	3	4	260	1	0	0	0	0	1	0	0	0	3584	623	22	4	2029	4	CLPTM1	19	45496120	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	6159524	45496120	13632863	204	46625											
MARK4	57787	broad.mit.edu	37	chr19	45762300	45762300	+	Frame_Shift_Del	DEL	C	C	-																															aaaggcccgtcctggtccagCcgctcactgggtgcccgttg																										TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:45762300delC	ENST00000300843.4	+	2	402	c.105delC	c.(103-105)agfs	p.S35fs	MARK4_ENST00000262891.4_Frame_Shift_Del_p.S35fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	35					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTGGTCCAGCCGCTCACTGG	0.662													16	28	---	---	---	---					-	45762300	C	-	45762300	7	5	260	1	0	1	0	1	0	0	0	0	9384	738	26	0	111	0	MARK4	19	45762300	Frame_Shift_Del	DEL	C	TCGA-CV-6948-01A-11D-1912-08	266180	45762300	13366683	205	46626											
CKM	1158	broad.mit.edu	37	chr19	45810135	45810135	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcggacgagcccagccgaTcagcgttggacacgtcaaat	10	7	11	13	5	2	0	2	0	0	0	3	4	2	2	2	2	3	1	2	2	1	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:45810135T>C	ENST00000221476.3	-	8	1193	c.1019A>G	c.(1018-1020)gAt>gGt	p.D340G		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	340	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCCCAGCCGATCAGCGTTGGA	0.582													57	116					0	0	0	0	C	45810135	T	C	45810135	3	2	260	1	0	0	0	0	1	0	0	0	3478	1435	50	5	130	5	CKM	19	45810135	Missense_Mutation	SNP	T	TCGA-CV-6948-01A-11D-1912-08	47835	45810135	13318848	206	46627											
VASP	7408	broad.mit.edu	37	chr19	46027399	46027399	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaacagcacaaccttgccaAggtaggccatcggtcctggg	11	6	12	12	1	0	1	0	0	0	1	2	1	1	1	4	4	4	2	4	4	4	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:46027399A>T	ENST00000245932.6	+	10	1311	c.956_splice	c.e10+1	p.R319_splice		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	319	EVH2.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		AACCTTGCCAAGGTAGGCCAT	0.577											OREG0025556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	29					0	0	0	0	T	46027399	A	T	46027399	5	4	260	1	0	0	0	0	0	0	1	0	17224	86	3	5	993	5	VASP	19	46027399	Splice_Site	SNP	A	TCGA-CV-6948-01A-11D-1912-08	217264	46027399	13101584	207	46628											
IRF3	3661	broad.mit.edu	37	chr19	50162899	50162899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggcacaccatgaggagcGagggctcagctctccccagg	9	4	15	13	1	2	1	1	1	1	0	3	4	2	3	3	5	2	3	3	5	0	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:50162899G>A	ENST00000600911.1	-	6	1566	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	IRF3_ENST00000596822.1_Missense_Mutation_p.R119C|IRF3_ENST00000593922.1_3'UTR|IRF3_ENST00000600022.1_3'UTR|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000377139.3_3'UTR|IRF3_ENST00000599223.1_3'UTR|IRF3_ENST00000598808.1_3'UTR|IRF3_ENST00000596765.1_3'UTR|IRF3_ENST00000599144.1_3'UTR|IRF3_ENST00000309877.7_3'UTR|IRF3_ENST00000601291.1_Missense_Mutation_p.R436C|IRF3_ENST00000597198.1_3'UTR			Q14653	IRF3_HUMAN	interferon regulatory factor 3	0					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CATGAGGAGCGAGGGCTCAGC	0.602													6	16					0	0	0	0	A	50162899	G	A	50162899	3	1	260	1	0	0	0	0	1	0	0	0	7884	1073	37	1		1	IRF3	19	50162899	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	4135500	50162899	8966084	208	46629											
MYH14	79784	broad.mit.edu	37	chr19	50713685	50713685	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggccgggcccagtgccCgaggcggcccagccgttcct	4	4	14	19	4	0	0	0	0	0	0	1	1	1	0	7	4	2	1	7	4	0	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:50713685C>T	ENST00000440075.2	+	2	110	c.63C>T	c.(61-63)ccC>ccT	p.P21P	MYH14_ENST00000262269.8_Silent_p.P21P|MYH14_ENST00000376970.2_Silent_p.P21P|MYH14_ENST00000596571.1_Silent_p.P21P|MYH14_ENST00000425460.1_Silent_p.P21P|MYH14_ENST00000598205.1_Silent_p.P21P|MYH14_ENST00000601313.1_Silent_p.P21P			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	21	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCCCAGTGCCCGAGGCGGCCC	0.756													5	1					0	0	0	0	T	50713685	C	T	50713685	2	4	260	1	0	0	0	0	0	0	0	1	10103	639	23	1		1	MYH14	19	50713685	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	550786	50713685	8415298	209	46630											
ZNF845	91664	broad.mit.edu	37	chr19	53854940	53854940	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgtggcaagaccttcagtCaaacgtcataccttgtgtac	12	11	8	10	1	3	1	3	0	0	1	3	1	3	1	2	1	3	2	2	1	5	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:53854940C>G	ENST00000458035.1	+	4	1129	c.1012C>G	c.(1012-1014)Caa>Gaa	p.Q338E	ZNF845_ENST00000595091.1_Missense_Mutation_p.Q338E	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GACCTTCAGTCAAACGTCATA	0.388													29	50					0	0	0	0	G	53854940	C	G	53854940	3	3	260	1	0	0	0	0	1	0	0	0	18284	827	29	2	1022	2	ZNF845	19	53854940	Missense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	3141255	53854940	5274043	210	46631											
PRKCG	5582	broad.mit.edu	37	chr19	54401792	54401792	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgatgtggactgcacgctGgtggagaaacgtgtgctggc	8	8	17	8	3	0	1	0	0	0	1	0	5	0	2	0	4	3	3	0	4	1	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr19:54401792G>C	ENST00000263431.3	+	11	1473	c.1191G>C	c.(1189-1191)ctG>ctC	p.L397L	PRKCG_ENST00000542049.1_Silent_p.L284L|PRKCG_ENST00000540413.1_Silent_p.L397L|PRKCG_ENST00000536044.1_3'UTR	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	397	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACTGCACGCTGGTGGAGAAAC	0.637													13	19					0	0	0	0	C	54401792	G	C	54401792	2	2	260	1	0	0	0	0	0	0	0	1	12592	1335	47	4		4	PRKCG	19	54401792	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	546852	54401792	4727191	211	46632											
C20orf27	54976	broad.mit.edu	37	chr20	3739186	3739186	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtaggtgtgcatgtaccttGaccagaaagctgctgtcact	9	11	12	9	0	1	2	1	1	0	1	1	2	1	2	2	2	4	5	2	2	3	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:3739186G>C	ENST00000379772.3	-	3	969	c.159C>G	c.(157-159)gtC>gtG	p.V53V	C20orf27_ENST00000217195.8_Silent_p.V78V	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	53										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						CATGTACCTTGACCAGAAAGC	0.587													7	142					0	0	0	0	C	3739186	G	C	3739186	2	2	260	1	0	0	0	0	0	0	0	1	2127	1277	45	2		2	C20orf27	20	3739186	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08		3739186	59286334	212	46633											
RIN2	54453	broad.mit.edu	37	chr20	19937366	19937366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctcagcatcttggaccGgctcctccacacccacccca	8	6	7	20	1	2	0	1	0	1	0	4	1	4	1	6	3	1	3	6	3	0	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:19937366G>A	ENST00000255006.6	+	4	562	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	RIN2_ENST00000440354.2_Missense_Mutation_p.R89Q|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	89	SH2.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ATCTTGGACCGGCTCCTCCAC	0.607													4	29					0	0	0	0	A	19937366	G	A	19937366	3	1	260	1	0	0	0	0	1	0	0	0	13457	1116	39	1	276	1	RIN2	20	19937366	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	16198180	19937366	43088154	213	46634											
ENTPD6	955	broad.mit.edu	37	chr20	25197285	25197285	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttgctgtgctccaggCagcttgaaaactccaggagg	8	11	12	10	0	0	1	0	1	0	0	2	2	2	2	2	3	5	5	2	3	2	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:25197285C>A	ENST00000360031.2	+	8	890	c.706_splice	c.e8-1	p.G236_splice	ENTPD6_ENST00000354989.5_Splice_Site_p.G220_splice|ENTPD6_ENST00000433259.2_Splice_Site_p.G237_splice|ENTPD6_ENST00000376652.4_Splice_Site_p.G237_splice	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	237						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GTGCTCCAGGCAGCTTGAAAA	0.572													9	17					4.68919e-08	5.67447e-08	1	0	A	25197285	C	A	25197285	5	1	260	1	0	0	0	0	0	0	1	0	5181	724	25	4	744	4	ENTPD6	20	25197285	Splice_Site	SNP	C	TCGA-CV-6948-01A-11D-1912-08	5259919	25197285	37828235	214	46635											
DEFB116	245930	broad.mit.edu	37	chr20	29891043	29891043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagtagcttgaactgtttGtaactgacaagttggagtta	12	13	12	4	0	0	3	0	2	0	1	0	5	0	4	0	1	3	6	0	1	5	6			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:29891043G>T	ENST00000400549.1	-	2	280	c.281C>A	c.(280-282)aCa>aAa	p.T94K		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	94					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGAACTGTTTGTAACTGACAA	0.383													83	183					3.76054e-38	5.06289e-38	1	0	T	29891043	G	T	29891043	3	4	260	1	0	0	0	0	1	0	0	0	4441	1377	48	4	30	4	DEFB116	20	29891043	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	4693758	29891043	33134477	215	46636											
SUN5	140732	broad.mit.edu	37	chr20	31587898	31587898	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgaaagcacagaggagcaGaatgcctgtcttctccatga	13	7	10	11	1	2	3	0	1	2	2	3	5	2	4	3	1	3	2	3	1	2	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:31587898G>C	ENST00000356173.3	-	5	414	c.322C>G	c.(322-324)Ctg>Gtg	p.L108V	SUN5_ENST00000375523.3_Missense_Mutation_p.L83V|SUN5_ENST00000375519.2_Missense_Mutation_p.F85L	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	108					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CAGAGGAGCAGAATGCCTGTC	0.587													13	71					0	0	0	0	C	31587898	G	C	31587898	3	2	260	1	0	0	0	0	1	0	0	0	15484	933	33	2	853	2	SUN5	20	31587898	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	1696855	31587898	31437622	216	46637											
ACSS2	55902	broad.mit.edu	37	chr20	33502206	33502206	+	Frame_Shift_Del	DEL	C	C	-																															gggtgactccaccagccagtCccccccaattaagaggtcat																										TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:33502206delC	ENST00000360596.2	+	7	1011	c.800delC	c.(799-801)tcfs	p.S267fs	ACSS2_ENST00000253382.5_Frame_Shift_Del_p.S267fs|ACSS2_ENST00000336325.4_Frame_Shift_Del_p.S217fs|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	267					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACCAGCCAGTCCCCCCCAATT	0.537													20	64	---	---	---	---					-	33502206	C	-	33502206	7	5	260	1	0	1	0	1	0	0	0	0	189	855	30	0	826	0	ACSS2	20	33502206	Frame_Shift_Del	DEL	C	TCGA-CV-6948-01A-11D-1912-08	1914308	33502206	29523314	217	46638											
PHF20	51230	broad.mit.edu	37	chr20	34505531	34505531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggatgaccgctatgacttcGaggtggtccgctgcatctgt	6	11	14	10	3	1	2	0	2	1	0	3	4	2	3	2	3	1	3	2	3	1	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:34505531G>A	ENST00000374012.3	+	13	2080	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CTATGACTTCGAGGTGGTCCG	0.502													21	52					0	0	0	0	A	34505531	G	A	34505531	3	1	260	1	0	0	0	0	1	0	0	0	11903	1059	37	1	1997	1	PHF20	20	34505531	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	1003325	34505531	28519989	218	46639											
ZNF831	128611	broad.mit.edu	37	chr20	57769026	57769026	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatttgttgggtcaggactGgggacccctctttctcccag	5	13	11	12	0	4	0	2	0	2	0	5	2	4	2	3	4	0	1	3	4	0	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr20:57769026G>T	ENST00000371030.2	+	1	2952	c.2952G>T	c.(2950-2952)ctG>ctT	p.L984L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	984						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTCAGGACTGGGGACCCCTC	0.632													34	15					3.11337e-16	3.98461e-16	1	0	T	57769026	G	T	57769026	2	4	260	1	0	0	0	0	0	0	0	1	18278	1335	47	4		4	ZNF831	20	57769026	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	23263495	57769026	5256494	219	46640											
MORC3	23515	broad.mit.edu	37	chr21	37741537	37741537	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttgtggccagactggttCaacaagcacctcatcatccc	10	9	7	15	0	3	1	3	0	0	1	4	1	4	1	4	2	2	2	4	2	2	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr21:37741537C>G	ENST00000400485.1	+	15	1947	c.1871C>G	c.(1870-1872)tCa>tGa	p.S624*	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	624					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CAGACTGGTTCAACAAGCACC	0.448													33	78					0	0	0	0	G	37741537	C	G	37741537	4	3	260	1	0	0	0	0	0	1	0	0	9773	838	29	2	1929	2	MORC3	21	37741537	Nonsense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08		37741537	10388358	220	46641											
SLC37A1	54020	broad.mit.edu	37	chr21	43962541	43962541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggctggtgcagaccaccGgctggcccagcgtcgtcacc	6	5	14	16	4	1	1	1	0	0	1	2	1	1	1	4	4	2	3	4	4	0	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr21:43962541G>A	ENST00000352133.2	+	7	1496	c.514G>A	c.(514-516)Ggc>Agc	p.G172S	SLC37A1_ENST00000398341.3_Missense_Mutation_p.G172S			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	172					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GCAGACCACCGGCTGGCCCAG	0.577													18	28					0	0	0	0	A	43962541	G	A	43962541	3	1	260	1	0	0	0	0	1	0	0	0	14685	1116	39	1	536	1	SLC37A1	21	43962541	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	6221004	43962541	4167354	221	46642											
POTEH	23784	broad.mit.edu	37	chr22	16279295	16279295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaagtaacagtggtgtgaGgccatgctgtaaaacaatat	15	9	10	7	0	0	1	0	1	0	0	0	1	0	1	2	2	3	3	2	2	6	3			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr22:16279295G>T	ENST00000343518.6	-	4	979	c.928C>A	c.(928-930)Ctc>Atc	p.L310I		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	310										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AGTGGTGTGAGGCCATGCTGT	0.323													36	510					2.215e-12	2.75799e-12	1	0	T	16279295	G	T	16279295	3	4	260	1	0	0	0	0	1	0	0	0	12339	1000	35	4	737	4	POTEH	22	16279295	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08		16279295	35025271	222	46643											
ZNF280A	129025	broad.mit.edu	37	chr22	22868743	22868743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttccacatcagcaaagacCgacgatctgtaatggcaaac	14	8	8	11	2	2	1	1	0	1	1	3	3	3	1	2	1	2	4	2	1	3	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr22:22868743C>T	ENST00000302097.3	-	2	1464	c.1212G>A	c.(1210-1212)tcG>tcA	p.S404S		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CAGCAAAGACCGACGATCTGT	0.413													6	116					0	0	0	0	T	22868743	C	T	22868743	2	4	260	1	0	0	0	0	0	0	0	1	17909	639	23	1		1	ZNF280A	22	22868743	Silent	SNP	C	TCGA-CV-6948-01A-11D-1912-08	6589448	22868743	28435823	223	46644											
TCF20	6942	broad.mit.edu	37	chr22	42606032	42606032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcagtgtccgtcttGgagccattagaagcactttt	7	14	8	12	1	2	1	1	0	1	1	5	2	5	2	4	1	2	1	4	1	2	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chr22:42606032G>A	ENST00000359486.3	-	1	5416	c.5280C>T	c.(5278-5280)tcC>tcT	p.S1760S	TCF20_ENST00000335626.4_Silent_p.S1760S|TCF20_ENST00000404876.1_Silent_p.S61S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1760					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TGTCCGTCTTGGAGCCATTAG	0.557													42	88					0	0	0	0	A	42606032	G	A	42606032	2	1	260	1	0	0	0	0	0	0	0	1	15784	1335	47	4		4	TCF20	22	42606032	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08	19737289	42606032	8698534	224	46645											
MAGEB6	158809	broad.mit.edu	37	chrX	26212041	26212041	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagccacagggtctcacGggtccccaggccactgcaga	8	5	13	15	1	2	1	2	0	1	1	4	1	3	1	4	4	2	1	4	4	0	0			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chrX:26212041G>C	ENST00000379034.1	+	2	227	c.78G>C	c.(76-78)acG>acC	p.T26T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	26										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGGGTCTCACGGGTCCCCAGG	0.572													30	16					0	0	0	0	C	26212041	G	C	26212041	2	2	260	1	0	0	0	0	0	0	0	1	9248	1103	39	3		3	MAGEB6	23	26212041	Silent	SNP	G	TCGA-CV-6948-01A-11D-1912-08		26212041	129058519	225	46646											
MAGED1	9500	broad.mit.edu	37	chrX	51639730	51639730	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagagccctccagctaggCagaccccaccagcctggcag	9	4	11	17	0	1	2	1	0	0	2	2	2	2	2	6	2	3	3	6	2	1	1			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chrX:51639730C>T	ENST00000375695.2	+	5	1300	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Nonsense_Mutation_p.Q327*|MAGED1_ENST00000375772.3_Nonsense_Mutation_p.Q327*|MAGED1_ENST00000326587.7_Nonsense_Mutation_p.Q327*	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	327	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TCCAGCTAGGCAGACCCCACC	0.602										Multiple Myeloma(10;0.10)			30	9					0	0	0	0	T	51639730	C	T	51639730	4	4	260	1	0	0	0	0	0	1	0	0	9252	711	25	4	1161	4	MAGED1	23	51639730	Nonsense_Mutation	SNP	C	TCGA-CV-6948-01A-11D-1912-08	25427689	51639730	103630830	226	46647											
NRK	203447	broad.mit.edu	37	chrX	105179222	105179222	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaccctctgaagtcaatgTtaacccactctatgtctctc	10	12	5	14	0	4	1	1	1	3	0	6	1	4	1	2	0	2	2	2	0	5	2			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chrX:105179222T>C	ENST00000428173.2	+	21	3866	c.3563T>C	c.(3562-3564)gTt>gCt	p.V1188A	NRK_ENST00000243300.9_Missense_Mutation_p.V1187A			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1187							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GAAGTCAATGTTAACCCACTC	0.418										HNSCC(51;0.14)			61	26					0	0	0	0	C	105179222	T	C	105179222	3	2	260	1	0	0	0	0	1	0	0	0	10726	1725	60	5	3642	5	NRK	23	105179222	Missense_Mutation	SNP	T	TCGA-CV-6948-01A-11D-1912-08	53539492	105179222	50091338	227	46648											
GPR112	139378	broad.mit.edu	37	chrX	135439890	135439890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagagaaggacaagaaatgGctacaatttcctatgtacca	17	8	9	7	0	0	3	0	0	0	3	1	5	1	4	2	2	2	2	2	2	7	4			TCGA-CV-6948-01A-11D-1912-08	TCGA-CV-6948-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03eb2650-4b9f-46d2-b09f-378d8e919ae2	0a473b19-15a2-42aa-9307-2b830a2476e1	g.chrX:135439890G>C	ENST00000394143.1	+	10	7246	c.6955G>C	c.(6955-6957)Gct>Cct	p.A2319P	GPR112_ENST00000412101.1_Missense_Mutation_p.A2114P|GPR112_ENST00000394141.1_Missense_Mutation_p.A2114P|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.A2319P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2319					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACAAGAAATGGCTACAATTTC	0.348													5	126					0	0	0	0	C	135439890	G	C	135439890	3	2	260	1	0	0	0	0	1	0	0	0	6678	1203	42	4	6981	4	GPR112	23	135439890	Missense_Mutation	SNP	G	TCGA-CV-6948-01A-11D-1912-08	30260668	135439890	19830670	228	46649											
PIK3R3	8503	broad.mit.edu	37	chr1	46511672	46511672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcccataaagcaagtcctCtgcttgtactcgattgatat	10	15	6	10	1	1	1	0	1	1	0	4	2	3	1	2	0	3	3	2	0	5	6			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr1:46511672C>T	ENST00000262741.5	-	9	1794	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	PIK3R3_ENST00000423209.1_Missense_Mutation_p.E310K|PIK3R3_ENST00000372006.1_Missense_Mutation_p.E369K|PIK3R3_ENST00000420542.1_Missense_Mutation_p.E369K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.E415K|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Missense_Mutation_p.E310K|PIK3R3_ENST00000340332.6_Missense_Mutation_p.E274K	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	369	SH2 2.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					AGCAAGTCCTCTGCTTGTACT	0.398													20	80					0	0	0	0	T	46511672	C	T	46511672	3	4	261	1	0	0	0	0	1	0	0	0	11992	922	32	2	288	2	PIK3R3	1	46511672	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08		46511672	202738949	1	46650											
ASPM	259266	broad.mit.edu	37	chr1	197091638	197091638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtagtacgctgacatatagCgtcaaatggcacatagcaag	15	8	10	8	2	1	1	1	1	0	0	1	1	1	1	0	1	3	5	0	1	7	5			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr1:197091638C>A	ENST00000367409.4	-	14	3734	c.3478G>T	c.(3478-3480)Gct>Tct	p.A1160S	ASPM_ENST00000367408.1_Missense_Mutation_p.A410S|ASPM_ENST00000294732.7_Missense_Mutation_p.A1160S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1160	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGACATATAGCGTCAAATGGC	0.413													5	12					1.23904e-05	2.55363e-05	1	0	A	197091638	C	A	197091638	3	1	261	1	0	0	0	0	1	0	0	0	1060	768	27	3	7015	3	ASPM	1	197091638	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	150579966	197091638	52158983	2	46651											
PGBD2	267002	broad.mit.edu	37	chr1	249212056	249212056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcaacatttgctccaatGctgtgggcatagagccagtg	9	11	12	9	0	1	1	1	0	0	1	2	1	2	1	2	2	4	3	2	2	3	2			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr1:249212056G>T	ENST00000355360.4	+	3	790	c.520G>T	c.(520-522)Gct>Tct	p.A174S	PGBD2_ENST00000329291.5_Missense_Mutation_p.A425S|PGBD2_ENST00000539153.1_Missense_Mutation_p.A422S	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	425										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTGCTCCAATGCTGTGGGCAT	0.517													7	38					5.18039e-06	1.10821e-05	1	0	T	249212056	G	T	249212056	3	4	261	1	0	0	0	0	1	0	0	0	11853	1319	46	4	1279	4	PGBD2	1	249212056	Missense_Mutation	SNP	G	TCGA-CV-6950-01A-11D-1912-08	52120418	249212056	38565	3	46652											
SF3B1	23451	broad.mit.edu	37	chr2	198285265	198285265	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgctcagcaaatggatcaTactgaaaagaggtatgtctc	13	11	10	7	0	3	2	2	1	1	1	4	3	3	3	0	2	3	3	0	2	5	2			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr2:198285265T>C	ENST00000335508.5	-	4	393	c.300_splice	c.e4-1	p.Y101_splice	SF3B1_ENST00000414963.2_Splice_Site_p.Y101_splice|SF3B1_ENST00000487698.1_Splice_Site_p.Y101_splice|SF3B1_ENST00000409915.4_Splice_Site_p.Y101_splice	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	101					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAATGGATCATACTGAAAAGA	0.358			Mis		myelodysplastic syndrome								37	23					0	0	0	0	C	198285265	T	C	198285265	5	2	261	1	0	0	0	0	0	0	1	0	14236	1420	49	5	3724	5	SF3B1	2	198285265	Splice_Site	SNP	T	TCGA-CV-6950-01A-11D-1912-08		198285265	44914108	4	46653											
KIF1A	547	broad.mit.edu	37	chr2	241689923	241689923	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgattgccacacggtgtaccAggggaacggggtacagcagg	10	5	16	10	3	0	0	0	0	0	0	0	2	0	1	2	6	5	3	2	6	3	3			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr2:241689923A>G	ENST00000498729.2	-	28	3146	c.2900T>C	c.(2899-2901)cTg>cCg	p.L967P	KIF1A_ENST00000320389.7_Missense_Mutation_p.L866P	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	866					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACGGTGTACCAGGGGAACGGG	0.652													3	52					0	0	0	0	G	241689923	A	G	241689923	3	3	261	1	0	0	0	0	1	0	0	0	8334	188	7	5	2563	5	KIF1A	2	241689923	Missense_Mutation	SNP	A	TCGA-CV-6950-01A-11D-1912-08	43404658	241689923	1509450	5	46654											
PARP15	165631	broad.mit.edu	37	chr3	122354785	122354785	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagtacttactggagtcttCacaaagggacgtgcaggatt	11	10	12	8	2	2	0	1	0	1	0	2	4	2	3	0	3	3	2	0	3	3	4			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr3:122354785C>T	ENST00000483793.1	+	9	1330	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	PARP15_ENST00000493645.1_Silent_p.F322F|PARP15_ENST00000310366.4_Silent_p.F391F|PARP15_ENST00000464300.2_Silent_p.F625F|PARP15_ENST00000465304.1_3'UTR			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	603	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CTGGAGTCTTCACAAAGGGAC	0.488													16	40					0	0	0	0	T	122354785	C	T	122354785	2	4	261	1	0	0	0	0	0	0	0	1	11530	825	29	2		2	PARP15	3	122354785	Silent	SNP	C	TCGA-CV-6950-01A-11D-1912-08		122354785	75667645	6	46655											
DNAJC13	23317	broad.mit.edu	37	chr3	132219737	132219737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatcatcaaggatctctgtCgggtactatattttggcaag	10	13	10	8	1	3	0	2	0	1	0	5	1	3	1	0	3	1	3	0	3	5	5			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr3:132219737C>T	ENST00000260818.6	+	39	4764	c.4516C>T	c.(4516-4518)Cgg>Tgg	p.R1506W		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1506							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GGATCTCTGTCGGGTACTATA	0.418													35	79					0	0	0	0	T	132219737	C	T	132219737	3	4	261	1	0	0	0	0	1	0	0	0	4668	875	31	1	4666	1	DNAJC13	3	132219737	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	9864952	132219737	65802693	7	46656											
MED12L	116931	broad.mit.edu	37	chr3	151112629	151112629	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacagcgacttctcaggCaagcccagactcggcctttc	10	7	9	15	2	1	1	1	0	1	1	4	2	1	1	2	2	4	2	2	2	2	2			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr3:151112629C>T	ENST00000474524.1	+	37	5727	c.5689C>T	c.(5689-5691)Caa>Taa	p.Q1897*	MED12L_ENST00000273432.4_Nonsense_Mutation_p.Q1757*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1897	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTTCTCAGGCAAGCCCAGAC	0.512													16	101					0	0	0	0	T	151112629	C	T	151112629	4	4	261	1	0	0	0	0	0	1	0	0	9498	711	25	4	5835	4	MED12L	3	151112629	Nonsense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	18892892	151112629	46909801	8	46657											
DGKG	1608	broad.mit.edu	37	chr3	185975671	185975671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccaaaatccagccaactgtCccatctccaccacaggccaa	13	6	4	18	0	1	0	0	0	1	0	5	0	4	0	7	1	2	0	7	1	4	0			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr3:185975671C>T	ENST00000265022.3	-	17	2021	c.1482G>A	c.(1480-1482)ggG>ggA	p.G494G	DGKG_ENST00000544847.1_Silent_p.G435G|DGKG_ENST00000344484.4_Silent_p.G469G|DGKG_ENST00000382164.4_Silent_p.G455G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	494	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGCCAACTGTCCCATCTCCAC	0.448													46	63					0	0	0	0	T	185975671	C	T	185975671	2	4	261	1	0	0	0	0	0	0	0	1	4506	842	30	2		2	DGKG	3	185975671	Silent	SNP	C	TCGA-CV-6950-01A-11D-1912-08	34863042	185975671	12046759	9	46658											
CWH43	80157	broad.mit.edu	37	chr4	49030675	49030675	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggtctctgctgccatCtggcctttcaggtttggata	8	13	11	9	0	3	1	1	0	2	1	4	2	3	2	2	4	2	2	2	4	2	3			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr4:49030675C>A	ENST00000226432.4	+	10	1479	c.1296C>A	c.(1294-1296)atC>atA	p.I432I	CWH43_ENST00000513409.1_Silent_p.I405I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	432					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTGCTGCCATCTGGCCTTTCA	0.448													9	32					1.76689e-08	3.9814e-08	1	0	A	49030675	C	A	49030675	2	1	261	1	0	0	0	0	0	0	0	1	4105	903	32	2		2	CWH43	4	49030675	Silent	SNP	C	TCGA-CV-6950-01A-11D-1912-08		49030675	142123601	10	46659											
ADH1C	126	broad.mit.edu	37	chr4	100268199	100268199	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccccttctcaaacactttCcacgatgccggctgcctcat	8	10	5	18	2	2	0	2	0	1	0	4	1	3	0	5	1	3	1	5	1	1	2			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr4:100268199C>T	ENST00000510055.1	-	0	397				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAAACACTTTCCACGATGCCG	0.522													56	189					0	0	0	0	T	100268199	C	T	100268199	1	4	261	0	1	0	0	0	0	0	0	0	309	864	30	2		2	ADH1C	4	100268199	RNA	SNP	C	TCGA-CV-6950-01A-11D-1912-08	51237524	100268199	90886077	11	46660											
SYNPO2	171024	broad.mit.edu	37	chr4	119951990	119951990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacaggaatattgcaggaggCcaaaaggagaagcacgacaa	19	3	12	7	1	0	1	0	0	0	1	0	5	0	3	1	4	3	2	1	4	7	2			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr4:119951990C>A	ENST00000307142.4	+	4	2256	c.2060C>A	c.(2059-2061)gCc>gAc	p.A687D	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.A687D|SYNPO2_ENST00000434046.2_Missense_Mutation_p.A687D	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	687						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGCAGGAGGCCAAAAGGAGA	0.463													11	34					1.58986e-06	3.44471e-06	1	0	A	119951990	C	A	119951990	3	1	261	1	0	0	0	0	1	0	0	0	15548	739	26	4	2074	4	SYNPO2	4	119951990	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	19683791	119951990	71202286	12	46661											
ANKH	56172	broad.mit.edu	37	chr5	14758681	14758681	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacatggtgcagtttattgaTaatgtagtatcctaaatcac	13	14	7	7	0	1	1	1	1	0	0	2	1	2	1	1	1	1	4	1	1	6	7			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr5:14758681T>A	ENST00000284268.6	-	3	670	c.340A>T	c.(340-342)Atc>Ttc	p.I114F		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	114					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGTTTATTGATAATGTAGTAT	0.418													12	47					0	0	0	0	A	14758681	T	A	14758681	3	1	261	1	0	0	0	0	1	0	0	0	627	1406	49	5	1178	5	ANKH	5	14758681	Missense_Mutation	SNP	T	TCGA-CV-6950-01A-11D-1912-08		14758681	166156579	13	46662											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724693	140724693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagagggcaccgttggaagaGaaattgctcttatcgacgtg	12	9	13	7	3	1	2	0	0	1	2	2	5	1	3	1	2	1	3	1	2	4	3			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr5:140724693G>C	ENST00000253812.6	+	1	1093	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGGAAGAGAAATTGCTCT	0.443													34	44					0	0	0	0	C	140724693	G	C	140724693	3	2	261	1	0	0	0	0	1	0	0	0	11626	943	33	2	1095	2	PCDHGA3	5	140724693	Missense_Mutation	SNP	G	TCGA-CV-6950-01A-11D-1912-08	125966012	140724693	40190567	14	46663											
RNF145	153830	broad.mit.edu	37	chr5	158630622	158630622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccagtttctcctttgcagCcatgttgtttttttttttct	3	23	5	10	0	2	0	0	0	2	0	4	0	3	0	3	0	2	4	3	0	0	8			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr5:158630622C>A	ENST00000424310.2	-	2	363	c.4G>T	c.(4-6)Gct>Tct	p.A2S	RNF145_ENST00000521606.2_Missense_Mutation_p.A19S|RNF145_ENST00000518802.1_Missense_Mutation_p.A32S|RNF145_ENST00000520638.1_Missense_Mutation_p.A16S|RNF145_ENST00000519865.1_Missense_Mutation_p.A2S|RNF145_ENST00000274542.2_Missense_Mutation_p.A30S	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	2						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTTTGCAGCCATGTTGttt	0.373													15	30					6.31663e-08	1.40462e-07	1	0	A	158630622	C	A	158630622	3	1	261	1	0	0	0	0	1	0	0	0	13532	739	26	4	2027	4	RNF145	5	158630622	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	17905929	158630622	22284638	15	46664											
TBC1D9B	23061	broad.mit.edu	37	chr5	179320402	179320402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgtccacacggatgctctCggggaagagcagggtggcgt	7	7	18	9	3	1	1	0	0	1	1	3	3	2	3	1	6	2	2	1	6	1	0			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr5:179320402C>T	ENST00000356834.3	-	5	680	c.643G>A	c.(643-645)Gag>Aag	p.E215K	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E215K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	215						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGATGCTCTCGGGGAAGAGC	0.587													17	14					0	0	0	0	T	179320402	C	T	179320402	3	4	261	1	0	0	0	0	1	0	0	0	15722	893	31	1	3181	1	TBC1D9B	5	179320402	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	20689780	179320402	1594858	16	46665											
PRRT1	80863	broad.mit.edu	37	chr6	32119654	32119654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagccggagtgggggtcctCggccggtgctggagtctggg	3	7	21	10	3	1	0	0	0	1	0	3	2	2	2	3	7	2	2	3	7	0	0			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr6:32119654C>T	ENST00000375150.2	-	3	215	c.31G>A	c.(31-33)Gag>Aag	p.E11K	PRRT1_ENST00000211413.5_5'UTR|PRRT1_ENST00000375152.2_Missense_Mutation_p.E11K			Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	94					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TGGGGGTCCTCGGCCGGTGCT	0.677													15	29					0	0	0	0	T	32119654	C	T	32119654	3	4	261	1	0	0	0	0	1	0	0	0	12688	899	31	1		1	PRRT1	6	32119654	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08		32119654	138995413	17	46666											
FRS3	10817	broad.mit.edu	37	chr6	41738404	41738404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggttttcctggcggtgcCatcgtctcggggcagagctc	3	10	15	13	4	1	1	0	0	1	1	5	1	2	1	3	5	2	3	3	5	0	2			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr6:41738404C>A	ENST00000373018.3	-	7	1683	c.1432G>T	c.(1432-1434)Ggc>Tgc	p.G478C	FRS3_ENST00000259748.2_Missense_Mutation_p.G478C	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	478					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGCGGTGCCATCGTCTCGG	0.627													17	64					3.41278e-10	7.90083e-10	1	0	A	41738404	C	A	41738404	3	1	261	1	0	0	0	0	1	0	0	0	6110	594	21	4	50	4	FRS3	6	41738404	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	9618750	41738404	129376663	18	46667											
PKHD1	5314	broad.mit.edu	37	chr6	51524466	51524466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggtacttttgttcccCaatagaaaaaagcgcaaaac	15	10	8	8	1	0	1	0	0	0	1	1	2	1	2	2	2	3	3	2	2	8	6			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr6:51524466C>T	ENST00000371117.3	-	61	10733	c.10458G>A	c.(10456-10458)ttG>ttA	p.L3486L		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3486					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTTGTTCCCCAATAGAAAAA	0.453													14	32					0	0	0	0	T	51524466	C	T	51524466	2	4	261	1	0	0	0	0	0	0	0	1	12043	593	21	4		4	PKHD1	6	51524466	Silent	SNP	C	TCGA-CV-6950-01A-11D-1912-08	9786062	51524466	119590601	19	46668											
FAM135A	57579	broad.mit.edu	37	chr6	71247998	71247998	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatatgactctctaggtctCtggtttatgcagaaatggaa	12	14	9	6	0	2	2	0	1	2	1	4	3	2	3	0	3	1	2	0	3	6	5			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr6:71247998C>T	ENST00000418814.2	+	20	4736	c.4122C>T	c.(4120-4122)ctC>ctT	p.L1374L	FAM135A_ENST00000361499.3_Silent_p.L1178L|FAM135A_ENST00000505769.1_Silent_p.L954L|FAM135A_ENST00000457062.2_Silent_p.L1161L|FAM135A_ENST00000505868.1_Silent_p.L1374L|FAM135A_ENST00000370479.3_Silent_p.L1161L	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1374										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CTCTAGGTCTCTGGTTTATGC	0.308													11	14					0	0	0	0	T	71247998	C	T	71247998	2	4	261	1	0	0	0	0	0	0	0	1	5489	900	32	2		2	FAM135A	6	71247998	Silent	SNP	C	TCGA-CV-6950-01A-11D-1912-08	19723532	71247998	99867069	20	46669											
AKAP7	9465	broad.mit.edu	37	chr6	131602681	131602681	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgtaggtgaaaagaacGgaggggagcccgatgacgct	13	5	17	6	3	0	3	0	2	0	1	0	7	0	6	1	5	2	2	1	5	5	1			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr6:131602681G>T	ENST00000431975.2	+	8	960	c.862G>T	c.(862-864)Gga>Tga	p.G288*	AKAP7_ENST00000474850.2_Nonsense_Mutation_p.G44*|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000263050.3_Nonsense_Mutation_p.G24*|AKAP7_ENST00000368123.4_Nonsense_Mutation_p.G266*|AKAP7_ENST00000342266.4_Nonsense_Mutation_p.G21*	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	44					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TGAAAAGAACGGAGGGGAGCC	0.507													13	37					0.000219431	0.000441475	1	0	T	131602681	G	T	131602681	4	4	261	1	0	0	0	0	0	1	0	0	456	1117	39	3	948	3	AKAP7	6	131602681	Nonsense_Mutation	SNP	G	TCGA-CV-6950-01A-11D-1912-08	60354683	131602681	39512386	21	46670											
TBX20	57057	broad.mit.edu	37	chr7	35288434	35288434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccccgaaaaggacacccGgatggttggaaacatcctcc	12	5	9	15	2	0	0	0	0	0	0	2	4	2	3	5	4	1	1	5	4	3	1			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr7:35288434G>C	ENST00000408931.3	-	3	926	c.400C>G	c.(400-402)Cgg>Ggg	p.R134G		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	134						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AAGGACACCCGGATGGTTGGA	0.532													5	48					0	0	0	0	C	35288434	G	C	35288434	3	2	261	1	0	0	0	0	1	0	0	0	15750	1115	39	3	968	3	TBX20	7	35288434	Missense_Mutation	SNP	G	TCGA-CV-6950-01A-11D-1912-08		35288434	123850229	22	46671											
URGCP	55665	broad.mit.edu	37	chr7	43917489	43917489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgcctcagctcagcccTgtgcttctcaggggggtcca	4	8	12	17	2	3	0	3	0	1	0	5	0	4	0	5	3	3	2	5	3	0	1			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr7:43917489T>C	ENST00000336086.6	-	4	3680	c.1444A>G	c.(1444-1446)Agg>Ggg	p.R482G	URGCP_ENST00000402306.3_Missense_Mutation_p.R516G|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.R482G|URGCP_ENST00000453200.1_Missense_Mutation_p.R525G|URGCP_ENST00000223341.7_Missense_Mutation_p.R482G|URGCP_ENST00000447717.3_Missense_Mutation_p.R482G|RP5-1165K10.1_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	525					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCTCAGCCCTGTGCTTCTCA	0.647													3	89					0	0	0	0	C	43917489	T	C	43917489	3	2	261	1	0	0	0	0	1	0	0	0	17122	1579	55	5	1226	5	URGCP	7	43917489	Missense_Mutation	SNP	T	TCGA-CV-6950-01A-11D-1912-08	8629055	43917489	115221174	23	46672											
AKAP9	10142	broad.mit.edu	37	chr7	91659267	91659267	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagagaacaatgtaccctGgaagttgtgtgaaaaagaat	17	8	10	6	0	0	3	0	1	0	2	0	5	0	4	1	1	2	2	1	1	7	2			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr7:91659267G>T	ENST00000359028.2	+	16	4468	c.4243G>T	c.(4243-4245)Gga>Tga	p.G1415*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.G1403*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.G1415*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1415					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATGTACCCTGGAAGTTGTGT	0.269			T	BRAF	papillary thyroid								47	47					1.39843e-22	3.47551e-22	1	0	T	91659267	G	T	91659267	4	4	261	1	0	0	0	0	0	1	0	0	459	1349	47	4	4265	4	AKAP9	7	91659267	Nonsense_Mutation	SNP	G	TCGA-CV-6950-01A-11D-1912-08	47741778	91659267	67479396	24	46673											
PXDNL	137902	broad.mit.edu	37	chr8	52320774	52320774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgaatgatggtggcagccGaatccacggccgcagaataa	12	8	12	9	3	0	3	0	2	0	1	1	4	1	3	3	3	1	2	3	3	4	2			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr8:52320774G>A	ENST00000356297.4	-	17	3510	c.3410C>T	c.(3409-3411)tCg>tTg	p.S1137L	PXDNL_ENST00000543296.1_Missense_Mutation_p.S1137L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1137					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTGGCAGCCGAATCCACGGC	0.522													10	125					0	0	0	0	A	52320774	G	A	52320774	3	1	261	1	0	0	0	0	1	0	0	0	12930	1059	37	1	1009	1	PXDNL	8	52320774	Missense_Mutation	SNP	G	TCGA-CV-6950-01A-11D-1912-08		52320774	94043248	25	46674											
PXDNL	137902	broad.mit.edu	37	chr8	52336259	52336259	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgccttcatcatccacatgGaatttaccactctcagtaat	11	13	5	12	0	3	0	3	0	1	0	5	1	4	1	3	1	2	1	3	1	3	4			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr8:52336259G>A	ENST00000356297.4	-	14	1771	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	PXDNL_ENST00000543296.1_Silent_p.F557F	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	557	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATCCACATGGAATTTACCAC	0.433													9	38					0	0	0	0	A	52336259	G	A	52336259	2	1	261	1	0	0	0	0	0	0	0	1	12930	1165	41	2		2	PXDNL	8	52336259	Silent	SNP	G	TCGA-CV-6950-01A-11D-1912-08	15485	52336259	94027763	26	46675											
KIAA1429	25962	broad.mit.edu	37	chr8	95531399	95531399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacaacgctgaaaatggCtgaacagttctgtaatacat	14	11	8	8	1	1	2	0	2	1	0	1	2	1	2	0	1	4	5	0	1	7	4			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr8:95531399C>T	ENST00000297591.5	-	9	2402	c.2327G>A	c.(2326-2328)aGc>aAc	p.S776N	KIAA1429_ENST00000437199.1_Missense_Mutation_p.S776N|KIAA1429_ENST00000421249.2_Missense_Mutation_p.S776N	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	776					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTGAAAATGGCTGAACAGTTC	0.423													8	55					0	0	0	0	T	95531399	C	T	95531399	3	4	261	1	0	0	0	0	1	0	0	0	8282	797	28	4	3229	4	KIAA1429	8	95531399	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	43195140	95531399	50832623	27	46676											
UBR5	51366	broad.mit.edu	37	chr8	103287969	103287969	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctccaacatcttccatgaaTaccctgccgaacagttctaa	12	10	5	14	1	2	1	0	1	2	0	4	2	4	1	4	0	4	2	4	0	5	4			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr8:103287969T>A	ENST00000520539.1	-	46	7203	c.6597A>T	c.(6595-6597)gtA>gtT	p.V2199V	UBR5_ENST00000220959.4_Silent_p.V2199V|UBR5_ENST00000521922.1_Silent_p.V2193V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2199					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTCCATGAATACCCTGCCGA	0.423													12	32					0	0	0	0	A	103287969	T	A	103287969	2	1	261	1	0	0	0	0	0	0	0	1	17001	1393	49	5		5	UBR5	8	103287969	Silent	SNP	T	TCGA-CV-6950-01A-11D-1912-08	7756570	103287969	43076053	28	46677											
MTSS1	9788	broad.mit.edu	37	chr8	125597387	125597387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttttttatctcttggCgggctttcttatattctaag	6	21	6	8	1	4	0	0	0	4	0	5	0	4	0	0	2	0	1	0	2	4	10			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr8:125597387C>A	ENST00000518547.1	-	6	874	c.401G>T	c.(400-402)cGc>cTc	p.R134L	MTSS1_ENST00000378017.3_Missense_Mutation_p.R134L|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Missense_Mutation_p.R134L	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	134	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	p.R134H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TATCTCTTGGCGGGCTTTCTT	0.363													49	115					9.87224e-16	2.41798e-15	1	0	A	125597387	C	A	125597387	3	1	261	1	0	0	0	0	1	0	0	0	10032	768	27	3	1902	3	MTSS1	8	125597387	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	22309418	125597387	20766635	29	46678											
RFX3	5991	broad.mit.edu	37	chr9	3263051	3263051	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaagcgacgtgtatcttcGcagagtctgggcaaaggcac	11	9	12	9	3	2	1	0	0	2	1	3	2	2	1	0	2	1	4	0	2	3	3			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:3263051G>A	ENST00000382004.3	-	14	1800	c.1489C>T	c.(1489-1491)Cga>Tga	p.R497*	RFX3_ENST00000358730.2_Nonsense_Mutation_p.R497*|RFX3_ENST00000302303.1_Nonsense_Mutation_p.R497*	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	497					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	p.R497*(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTGTATCTTCGCAGAGTCTGG	0.483													23	98					0	0	0	0	A	3263051	G	A	3263051	4	1	261	1	0	0	0	0	0	1	0	0	13346	1095	38	1	936	1	RFX3	9	3263051	Nonsense_Mutation	SNP	G	TCGA-CV-6950-01A-11D-1912-08		3263051	137950380	30	46679											
SLC28A3	64078	broad.mit.edu	37	chr9	86914576	86914576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacaccagctgctgttgacCcaatttggcagtgtcaaagg	10	9	12	10	0	1	1	1	1	0	0	1	2	1	2	2	3	2	4	2	3	2	2			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:86914576C>A	ENST00000376238.4	-	6	638	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G128C	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	197					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TGCTGTTGACCCAATTTGGCA	0.463													12	56					0.000219431	0.000441475	1	0	A	86914576	C	A	86914576	3	1	261	1	0	0	0	0	1	0	0	0	14621	623	22	4	1538	4	SLC28A3	9	86914576	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	83651525	86914576	54298855	31	46680											
BSPRY	54836	broad.mit.edu	37	chr9	116131934	116131934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgatgagaggacagtcagcCccttcctgcaattgtcagat	10	10	10	11	1	2	2	2	1	0	2	4	5	3	3	3	1	2	1	3	1	1	2			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:116131934C>T	ENST00000374183.4	+	6	760	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	241	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GACAGTCAGCCCCTTCCTGCA	0.577													14	84					0	0	0	0	T	116131934	C	T	116131934	3	4	261	1	0	0	0	0	1	0	0	0	1540	623	22	4	743	4	BSPRY	9	116131934	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	29217358	116131934	25081497	32	46681											
COL5A1	1289	broad.mit.edu	37	chr9	137676879	137676879	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggggagaagatggccctgaAggcccaaagggtcgcggagg	11	3	19	8	2	0	3	0	1	0	2	1	5	0	4	2	7	0	0	2	7	3	0			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:137676879A>C	ENST00000371817.3	+	30	2943	c.2529A>C	c.(2527-2529)gaA>gaC	p.E843D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	843	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATGGCCCTGAAGGCCCAAAGG	0.622													34	29					0	0	0	0	C	137676879	A	C	137676879	3	2	261	1	0	0	0	0	1	0	0	0	3726	69	3	5	2647	5	COL5A1	9	137676879	Missense_Mutation	SNP	A	TCGA-CV-6950-01A-11D-1912-08	21544945	137676879	3536552	33	46682											
SEC16A	9919	broad.mit.edu	37	chr9	139354513	139354513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggacgcggcaggcatcCgtccggacatgagctggtag	7	6	16	12	5	0	1	0	1	0	0	2	3	2	3	3	5	1	4	3	5	1	1			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr9:139354513C>T	ENST00000313050.7	-	12	5127	c.5054G>A	c.(5053-5055)cGg>cAg	p.R1685Q	SEC16A_ENST00000431893.2_Missense_Mutation_p.R1507Q|SEC16A_ENST00000371706.3_Missense_Mutation_p.R1507Q|SEC16A_ENST00000290037.6_Missense_Mutation_p.R1507Q	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1507					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCAGGCATCCGTCCGGACAT	0.592													11	8					0	0	0	0	T	139354513	C	T	139354513	3	4	261	1	0	0	0	0	1	0	0	0	14073	652	23	1	2095	1	SEC16A	9	139354513	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	1677634	139354513	1858918	34	46683											
TALDO1	6888	broad.mit.edu	37	chr11	755976	755976	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggagctggtggaggaggcGattgcctatggccggaagct	8	7	18	8	2	0	0	0	0	0	0	0	5	0	4	2	7	3	2	2	7	2	2			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr11:755976G>A	ENST00000319006.3	+	2	348	c.195G>A	c.(193-195)gcG>gcA	p.A65A	TALDO1_ENST00000528097.1_Silent_p.A65A			P37837	TALDO_HUMAN	transaldolase 1	65					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TGGAGGAGGCGATTGCCTATG	0.632													4	27					0	0	0	0	A	755976	G	A	755976	2	1	261	1	0	0	0	0	0	0	0	1	15634	1045	37	1		1	TALDO1	11	755976	Silent	SNP	G	TCGA-CV-6950-01A-11D-1912-08		755976	134250540	35	46684											
ATM	472	broad.mit.edu	37	chr11	108206667	108206667	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acggaaactaggaagaggaaAttaactatctgtacttataa	18	10	8	5	1	1	1	0	0	1	1	1	4	1	4	0	3	3	1	0	3	9	6			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr11:108206667A>C	ENST00000278616.4	+	56	8632	c.8247A>C	c.(8245-8247)aaA>aaC	p.K2749N	ATM_ENST00000452508.2_Missense_Mutation_p.K2749N|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2749	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGAAGAGGAAATTAACTATCT	0.403			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			15	13					0	0	0	0	C	108206667	A	C	108206667	3	2	261	1	0	0	0	0	1	0	0	0	1113	98	4	5	8465	5	ATM	11	108206667	Missense_Mutation	SNP	A	TCGA-CV-6950-01A-11D-1912-08	107450691	108206667	26799849	36	46685											
C3AR1	719	broad.mit.edu	37	chr12	8212707	8212707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctgagaatgaccatggaGagaattactgggggctcatt	12	9	14	6	0	1	3	1	2	0	2	1	6	1	4	1	4	1	2	1	4	3	2			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr12:8212707G>A	ENST00000307637.4	-	2	278	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	25					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TGACCATGGAGAGAATTACTG	0.488													30	68					0	0	0	0	A	8212707	G	A	8212707	2	1	261	1	0	0	0	0	0	0	0	1	2225	929	33	2		2	C3AR1	12	8212707	Silent	SNP	G	TCGA-CV-6950-01A-11D-1912-08		8212707	125639188	37	46686											
CUX2	23316	broad.mit.edu	37	chr12	111758147	111758147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgcaaggtcaagtccgaGatcggcgacgccggctactt	9	7	12	13	6	1	1	1	0	0	1	4	3	3	1	3	3	1	2	3	3	3	2			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr12:111758147G>T	ENST00000261726.6	+	17	2488	c.2334G>T	c.(2332-2334)gaG>gaT	p.E778D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	778						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCAAGTCCGAGATCGGCGACG	0.721													18	39					5.3912e-06	1.13889e-05	1	0	T	111758147	G	T	111758147	3	4	261	1	0	0	0	0	1	0	0	0	4097	933	33	2	2400	2	CUX2	12	111758147	Missense_Mutation	SNP	G	TCGA-CV-6950-01A-11D-1912-08	103545440	111758147	22093748	38	46687											
GTF3A	2971	broad.mit.edu	37	chr13	28004707	28004707	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaagacctttaagaaacAtcagcagctgaaaatccatc	18	8	6	9	0	1	4	1	1	0	3	3	4	2	4	2	0	3	2	2	0	6	3			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr13:28004707A>T	ENST00000381140.4	+	4	631	c.437A>T	c.(436-438)cAt>cTt	p.H146L	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088.2	Q92664	TF3A_HUMAN	general transcription factor IIIA	146					regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		TTTAAGAAACATCAGCAGCTG	0.383													9	9					0	0	0	0	T	28004707	A	T	28004707	3	4	261	1	0	0	0	0	1	0	0	0	6921	217	8	5	451	5	GTF3A	13	28004707	Missense_Mutation	SNP	A	TCGA-CV-6950-01A-11D-1912-08		28004707	87165171	39	46688											
MYCBP2	23077	broad.mit.edu	37	chr13	77662989	77662989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatagcaaaaactcgacaaGcagatttccttagggcctgt	13	9	8	11	1	0	1	0	0	0	1	2	2	1	1	3	1	3	2	3	1	5	3			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr13:77662989G>A	ENST00000407578.2	-	61	10969	c.10703C>T	c.(10702-10704)gCt>gTt	p.A3568V	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.A3530V|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A3530V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACTCGACAAGCAGATTTCCT	0.353													17	20					0	0	0	0	A	77662989	G	A	77662989	3	1	261	1	0	0	0	0	1	0	0	0	10088	971	34	4	3425	4	MYCBP2	13	77662989	Missense_Mutation	SNP	G	TCGA-CV-6950-01A-11D-1912-08	49658282	77662989	37506889	40	46689											
TM9SF1	10548	broad.mit.edu	37	chr14	24679887	24679887	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatcatctccaaagcccatAggccgagaaatggcatctga	14	7	8	12	1	3	2	1	1	2	1	4	3	3	2	3	2	1	1	3	2	3	1			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr14:24679887A>G	ENST00000556387.1	-	4	480	c.447T>C	c.(445-447)ccT>ccC	p.P149P	TM9SF1_ENST00000530611.1_Silent_p.P149P|CHMP4A_ENST00000542700.2_5'UTR|CHMP4A_ENST00000347519.6_Silent_p.P192P|AL136419.6_ENST00000565988.1_RNA			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CAAAGCCCATAGGCCGAGAAA	0.507													3	152					0	0	0	0	G	24679887	A	G	24679887	2	3	261	1	0	0	0	0	0	0	0	1	16071	407	15	5		5	TM9SF1	14	24679887	Silent	SNP	A	TCGA-CV-6950-01A-11D-1912-08		24679887	82669653	41	46690											
SOS2	6655	broad.mit.edu	37	chr14	50597456	50597456	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggccttattccaggagattTtaaggaaaaagttgatttcc	13	13	9	6	0	0	2	0	1	0	1	2	4	2	3	3	3	0	1	3	3	4	6			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr14:50597456T>C	ENST00000216373.5	-	20	3374	c.3100A>G	c.(3100-3102)Aaa>Gaa	p.K1034E	SOS2_ENST00000543680.1_Missense_Mutation_p.K1001E	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1034					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CCAGGAGATTTTAAGGAAAAA	0.383													6	56					0	0	0	0	C	50597456	T	C	50597456	3	2	261	1	0	0	0	0	1	0	0	0	15025	1850	64	5	914	5	SOS2	14	50597456	Missense_Mutation	SNP	T	TCGA-CV-6950-01A-11D-1912-08	25917569	50597456	56752084	42	46691											
EML5	161436	broad.mit.edu	37	chr14	89091394	89091394	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggcccgttgtgagctctCgccacgattctacacaatat	10	10	8	13	3	2	1	0	1	2	0	3	2	2	1	2	1	2	2	2	1	3	4			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr14:89091394C>T	ENST00000554922.1	-	36	5066	c.4818G>A	c.(4816-4818)gcG>gcA	p.A1606A	EML5_ENST00000380664.5_Silent_p.A1598A|EML5_ENST00000352093.5_Silent_p.A1560A|EML5_ENST00000553320.1_5'UTR	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1598						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGTGAGCTCTCGCCACGATTC	0.502													6	67					0	0	0	0	T	89091394	C	T	89091394	2	4	261	1	0	0	0	0	0	0	0	1	5138	871	31	1		1	EML5	14	89091394	Silent	SNP	C	TCGA-CV-6950-01A-11D-1912-08	38493938	89091394	18258146	43	46692											
KLC1	3831	broad.mit.edu	37	chr14	104167058	104167058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcctggaagacgccacCgctaacgtgagtcccacggc	9	5	13	14	4	0	2	0	1	0	1	1	3	1	3	4	3	1	1	4	3	2	1			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr14:104167058C>T	ENST00000334553.6	+	16	2174	c.1915C>T	c.(1915-1917)Cgc>Tgc	p.R639C	KLC1_ENST00000348520.6_Missense_Mutation_p.R573C|XRCC3_ENST00000553264.1_Intron|KLC1_ENST00000555836.1_Missense_Mutation_p.R630C|XRCC3_ENST00000445556.1_Intron|KLC1_ENST00000554280.1_Missense_Mutation_p.607_607insT|XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000555055.1_Intron|XRCC3_ENST00000352127.7_Intron|XRCC3_ENST00000554913.1_Intron|KLC1_ENST00000452929.2_Missense_Mutation_p.616_616insT|KLC1_ENST00000557450.1_Missense_Mutation_p.R564C			Q07866	KLC1_HUMAN	kinesin light chain 1	0					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AAGACGCCACCGCTAACGTGA	0.627													11	70					0	0	0	0	T	104167058	C	T	104167058	3	4	261	1	0	0	0	0	1	0	0	0	8385	652	23	1	1939	1	KLC1	14	104167058	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	15075664	104167058	3182482	44	46693											
HERC2	8924	broad.mit.edu	37	chr15	28467346	28467346	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcatatcttcctcaacgTtgtcacaactggggcctgat	9	13	7	12	1	4	1	3	1	1	0	5	1	5	1	2	2	2	1	2	2	3	4			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr15:28467346T>C	ENST00000261609.7	-	36	5588	c.5480A>G	c.(5479-5481)aAc>aGc	p.N1827S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1827					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCCTCAACGTTGTCACAACT	0.458													9	29					0	0	0	0	C	28467346	T	C	28467346	3	2	261	1	0	0	0	0	1	0	0	0	7108	1725	60	5	9256	5	HERC2	15	28467346	Missense_Mutation	SNP	T	TCGA-CV-6950-01A-11D-1912-08		28467346	74064046	45	46694											
ACTC1	70	broad.mit.edu	37	chr15	35082732	35082732	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccccaatccagacagagtAtttacgctcagggggagcaa	12	6	11	12	1	1	2	1	0	0	2	2	3	2	3	3	2	2	3	3	2	4	3			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr15:35082732A>G	ENST00000290378.4	-	7	1670	c.1015T>C	c.(1015-1017)Tac>Cac	p.Y339H	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	339					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CAGACAGAGTATTTACGCTCA	0.478													21	69					0	0	0	0	G	35082732	A	G	35082732	3	3	261	1	0	0	0	0	1	0	0	0	195	449	16	5	122	5	ACTC1	15	35082732	Missense_Mutation	SNP	A	TCGA-CV-6950-01A-11D-1912-08	6615386	35082732	67448660	46	46695											
PKD1	5310	broad.mit.edu	37	chr16	2160250	2160250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggaagtagcggccacCgcccaccacctgcagcccct	7	4	13	17	2	0	0	0	0	0	0	0	1	0	1	7	4	3	2	7	4	2	1			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr16:2160250C>G	ENST00000262304.4	-	15	5126	c.4918G>C	c.(4918-4920)Ggt>Cgt	p.G1640R	PKD1_ENST00000423118.1_Missense_Mutation_p.G1640R	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1640	PKD 12.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAGCGGCCACCGCCCACCACC	0.617													19	13					0	0	0	0	G	2160250	C	G	2160250	3	3	261	1	0	0	0	0	1	0	0	0	12035	652	23	3	8121	3	PKD1	16	2160250	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08		2160250	88194503	47	46696											
TAOK2	9344	broad.mit.edu	37	chr16	30002124	30002124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcggcttgatgagacccAggaggcagagttccaggccc	8	6	15	12	1	0	3	0	2	0	2	1	5	1	4	3	4	1	4	3	4	0	2	rs140227077		TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr16:30002124A>G	ENST00000279394.3	+	18	2868	c.2465A>G	c.(2464-2466)cAg>cGg	p.Q822R		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	701	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GATGAGACCCAGGAGGCAGAG	0.612													18	34					0	0	0	0	G	30002124	A	G	30002124	3	3	261	1	0	0	0	0	1	0	0	0	15639	188	7	5	4007	5	TAOK2	16	30002124	Missense_Mutation	SNP	A	TCGA-CV-6950-01A-11D-1912-08	27841874	30002124	60352629	48	46697											
TP53	7157	broad.mit.edu	37	chr17	7578241	7578241	+	Frame_Shift_Del	DEL	A	A	-																															ttctgtcatccaaatactccAcacgcaaatttccttccact																										TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr17:7578241delA	ENST00000420246.2	-	6	740	c.608delT	c.(607-609)ggfs	p.V203fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	203	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|VE -> LV (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.V203E(6)|p.?(5)|p.N200fs*4(1)|p.V203A(1)|p.E204fs*5(1)|p.V203_E204>LV(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAATACTCCACACGCAAATT	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			36	17	---	---	---	---					-	7578241	A	-	7578241	7	5	261	1	0	1	0	1	0	0	0	0	16476	159	6	0	686	0	TP53	17	7578241	Frame_Shift_Del	DEL	A	TCGA-CV-6950-01A-11D-1912-08		7578241	73616969	49	46698											
PSME3	10197	broad.mit.edu	37	chr17	40986550	40986550	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcagaagacttggtggcaAattttttcccaaagaagtta	14	11	10	6	0	0	3	0	0	0	3	1	3	1	3	1	3	0	3	1	3	5	5			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr17:40986550A>G	ENST00000293362.3	+	3	255	c.94A>G	c.(94-96)Aat>Gat	p.N32D	PSME3_ENST00000592578.1_3'UTR|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000441946.2_Missense_Mutation_p.N43D|PSME3_ENST00000545225.1_5'UTR|PSME3_ENST00000590720.1_Missense_Mutation_p.N32D|PSME3_ENST00000541124.1_3'UTR	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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 proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CTTGGTGGCAAATTTTTTCCC	0.408													33	86					0	0	0	0	G	40986550	A	G	40986550	3	3	261	1	0	0	0	0	1	0	0	0	12787	14	1	5	104	5	PSME3	17	40986550	Missense_Mutation	SNP	A	TCGA-CV-6950-01A-11D-1912-08	33408309	40986550	40208660	50	46699											
RTTN	25914	broad.mit.edu	37	chr18	67801778	67801778	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattggaaggattaacagacCtatttcataaaagaaaaaca	20	10	6	5	0	1	2	1	0	0	2	1	4	1	4	1	2	2	0	1	2	8	6			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr18:67801778C>T	ENST00000255674.6	-	23	3172		c.e23-1		RTTN_ENST00000437017.1_Splice_Site|RTTN_ENST00000454359.1_Splice_Site	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin								binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATTAACAGACCTATTTCATAA	0.333													4	31					0	0	0	0	T	67801778	C	T	67801778	5	4	261	1	0	0	0	0	0	0	1	0	13822	695	24	4	3903	4	RTTN	18	67801778	Splice_Site	SNP	C	TCGA-CV-6950-01A-11D-1912-08		67801778	10275470	51	46700											
SAFB2	9667	broad.mit.edu	37	chr19	5604923	5604923	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccccgggctgcgggcgtTcgttaccactttggccccga	4	8	13	16	5	0	0	0	0	0	0	1	1	0	0	5	3	3	3	5	3	1	3			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr19:5604923T>C	ENST00000252542.4	-	10	1585	c.1321A>G	c.(1321-1323)Aac>Gac	p.N441D	SAFB2_ENST00000591310.1_5'UTR	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	441	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTGCGGGCGTTCGTTACCACT	0.517													7	47					0	0	0	0	C	5604923	T	C	5604923	3	2	261	1	0	0	0	0	1	0	0	0	13892	1783	62	5	1588	5	SAFB2	19	5604923	Missense_Mutation	SNP	T	TCGA-CV-6950-01A-11D-1912-08		5604923	53524060	52	46701											
S1PR5	53637	broad.mit.edu	37	chr19	10624909	10624909	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggggccccaacatgccacaAaggccaggagcaccacgctg	11	2	13	15	1	0	0	0	0	0	0	0	1	0	1	5	4	3	2	5	4	2	0			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr19:10624909A>T	ENST00000439028.3	-	2	904	c.779T>A	c.(778-780)tTt>tAt	p.F260Y	S1PR5_ENST00000333430.4_Missense_Mutation_p.F260Y	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	260						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						ACATGCCACAAAGGCCAGGAG	0.716													7	4					0	0	0	0	T	10624909	A	T	10624909	3	4	261	1	0	0	0	0	1	0	0	0	13882	14	1	5	421	5	S1PR5	19	10624909	Missense_Mutation	SNP	A	TCGA-CV-6950-01A-11D-1912-08	5019986	10624909	48504074	53	46702											
ZNF574	64763	broad.mit.edu	37	chr19	42584699	42584699	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggctgccttcccctcCtcactgcggctccgggagca	3	9	13	16	2	1	0	1	0	0	0	4	1	4	1	5	4	3	3	5	4	0	1			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr19:42584699C>T	ENST00000600245.1	+	2	2596	c.1941C>T	c.(1939-1941)tcC>tcT	p.S647S	ZNF574_ENST00000359044.4_Silent_p.S647S|ZNF574_ENST00000222339.7_Silent_p.S737S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CCTTCCCCTCCTCACTGCGGC	0.697													16	64					0	0	0	0	T	42584699	C	T	42584699	2	4	261	1	0	0	0	0	0	0	0	1	18101	668	24	4		4	ZNF574	19	42584699	Silent	SNP	C	TCGA-CV-6950-01A-11D-1912-08	31959790	42584699	16544284	54	46703											
IRGQ	126298	broad.mit.edu	37	chr19	44097383	44097383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacggccaggtctagccgtgCgctgcccaggcgctccaggc	5	5	14	17	4	1	0	0	0	1	0	2	0	2	0	4	4	3	2	4	4	1	1			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr19:44097383C>T	ENST00000422989.1	-	3	822	c.667G>A	c.(667-669)Gca>Aca	p.A223T	IRGQ_ENST00000602269.1_Missense_Mutation_p.A223T	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	223							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TCTAGCCGTGCGCTGCCCAGG	0.682													22	46					0	0	0	0	T	44097383	C	T	44097383	3	4	261	1	0	0	0	0	1	0	0	0	7892	768	27	1	1208	1	IRGQ	19	44097383	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	1512684	44097383	15031600	55	46704											
LILRB1	10859	broad.mit.edu	37	chr19	55144748	55144748	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgactcaccccagtgacCccctggagctcgtggtctca	6	9	10	16	1	2	2	2	2	1	0	4	3	2	3	4	2	2	2	4	2	0	0			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr19:55144748C>G	ENST00000396331.1	+	8	1597	c.1240C>G	c.(1240-1242)Ccc>Gcc	p.P414A	LILRB1_ENST00000324602.7_Missense_Mutation_p.P414A|LILRB1_ENST00000434867.2_Missense_Mutation_p.P414A|LILRB1_ENST00000396315.1_Missense_Mutation_p.P414A|LILRB1_ENST00000462628.1_Intron|LILRB1_ENST00000418536.2_Missense_Mutation_p.P414A|LILRB1_ENST00000396321.2_Missense_Mutation_p.P414A|LILRB1_ENST00000396327.3_Missense_Mutation_p.P414A|LILRB1_ENST00000396332.4_Missense_Mutation_p.P414A|LILRB1_ENST00000396317.1_Missense_Mutation_p.P414A|LILRB1_ENST00000448689.1_Missense_Mutation_p.P414A|LILRB1_ENST00000427581.2_Missense_Mutation_p.P450A	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	414					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCCAGTGACCCCCTGGAGCT	0.622										HNSCC(37;0.09)			3	78					0	0	0	0	G	55144748	C	G	55144748	3	3	261	1	0	0	0	0	1	0	0	0	8844	623	22	4	1262	4	LILRB1	19	55144748	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	11047365	55144748	3984235	56	46705											
CHGB	1114	broad.mit.edu	37	chr20	5903296	5903296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggatgaggaggaggaggAgggagagaactatcaaaaag	18	3	18	2	0	1	3	1	1	0	2	1	10	1	9	0	6	1	0	0	6	4	1			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr20:5903296A>G	ENST00000378961.4	+	4	710	c.506A>G	c.(505-507)gAg>gGg	p.E169G		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	169	Poly-Glu.					extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGGAGGAGGAGGGAGAGAAC	0.512													3	47					0	0	0	0	G	5903296	A	G	5903296	3	3	261	1	0	0	0	0	1	0	0	0	3368	304	11	5	520	5	CHGB	20	5903296	Missense_Mutation	SNP	A	TCGA-CV-6950-01A-11D-1912-08		5903296	57122224	57	46706											
FOXS1	2307	broad.mit.edu	37	chr20	30433105	30433105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcttgcggtcatcgcGgggcaccttgacaaagcact	7	8	13	13	3	1	1	1	1	0	0	2	1	1	1	2	4	2	3	2	4	1	2			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr20:30433105G>T	ENST00000375978.3	-	1	315	c.241C>A	c.(241-243)Cgc>Agc	p.R81S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	81					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R81C(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CGGTCATCGCGGGGCACCTTG	0.637													17	62					6.49762e-13	1.56871e-12	1	0	T	30433105	G	T	30433105	3	4	261	1	0	0	0	0	1	0	0	0	6082	1116	39	3	755	3	FOXS1	20	30433105	Missense_Mutation	SNP	G	TCGA-CV-6950-01A-11D-1912-08	24529809	30433105	32592415	58	46707											
GSS	2937	broad.mit.edu	37	chr20	33519179	33519179	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttagcacaaaccggctaggGgcagcaagggcctcggcgat	10	6	14	11	3	0	0	0	0	0	0	1	1	0	0	2	5	3	4	2	5	4	3			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr20:33519179G>A	ENST00000216951.2	-	11	1169	c.1071C>T	c.(1069-1071)gcC>gcT	p.A357A	GSS_ENST00000451957.2_Silent_p.A246A|GSS_ENST00000541098.1_Silent_p.A229A	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	357					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	ACCGGCTAGGGGCAGCAAGGG	0.562													9	33					0	0	0	0	A	33519179	G	A	33519179	2	1	261	1	0	0	0	0	0	0	0	1	6879	1219	43	4		4	GSS	20	33519179	Silent	SNP	G	TCGA-CV-6950-01A-11D-1912-08	3086074	33519179	29506341	59	46708											
CABIN1	23523	broad.mit.edu	37	chr22	24439496	24439496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgcaatcctgaccactggcCctgtttggataacctaatca	10	11	8	12	0	1	1	1	1	0	0	2	2	2	2	4	2	2	2	4	2	3	3			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr22:24439496C>T	ENST00000398319.2	+	6	861	c.476C>T	c.(475-477)cCc>cTc	p.P159L	CABIN1_ENST00000405822.2_Missense_Mutation_p.P159L|CABIN1_ENST00000263119.5_Missense_Mutation_p.P159L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	159					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GACCACTGGCCCTGTTTGGAT	0.512													15	83					0	0	0	0	T	24439496	C	T	24439496	3	4	261	1	0	0	0	0	1	0	0	0	2553	623	22	4	494	4	CABIN1	22	24439496	Missense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08		24439496	26865070	60	46709											
MYO18B	84700	broad.mit.edu	37	chr22	26164180	26164180	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaccagtcaagctctccTgggagctcagacattctggg	9	8	12	12	1	4	1	2	0	2	1	5	4	4	2	2	2	2	2	2	2	1	1			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chr22:26164180T>C	ENST00000335473.7	+	4	547	c.297T>C	c.(295-297)ccT>ccC	p.P99P	MYO18B_ENST00000536101.1_Silent_p.P99P|MYO18B_ENST00000407587.2_Silent_p.P99P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	99	Ser-rich.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAAGCTCTCCTGGGAGCTCAG	0.582													16	136					0	0	0	0	C	26164180	T	C	26164180	2	2	261	1	0	0	0	0	0	0	0	1	10136	1567	55	5		5	MYO18B	22	26164180	Silent	SNP	T	TCGA-CV-6950-01A-11D-1912-08	1724684	26164180	25140386	61	46710											
MXRA5	25878	broad.mit.edu	37	chrX	3241944	3241944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgcaaggcaatgtcacCgactcccctgggttcttgcc	7	10	10	14	1	2	0	1	0	1	0	3	1	3	0	4	2	2	4	4	2	2	3			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chrX:3241944C>T	ENST00000217939.6	-	5	1936	c.1782G>A	c.(1780-1782)tcG>tcA	p.S594S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	594	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCAATGTCACCGACTCCCCTG	0.473													5	14					0	0	0	0	T	3241944	C	T	3241944	2	4	261	1	0	0	0	0	0	0	0	1	10073	639	23	1		1	MXRA5	23	3241944	Silent	SNP	C	TCGA-CV-6950-01A-11D-1912-08		3241944	152028616	62	46711											
GUCY2F	2986	broad.mit.edu	37	chrX	108718934	108718934	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgattcgctcaatggctaAtcgcgcagcaacctcaggca	10	9	10	12	3	2	1	2	1	0	0	4	1	2	1	1	2	2	6	1	2	3	3			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chrX:108718934A>G	ENST00000218006.2	-	2	523	c.232T>C	c.(232-234)Tta>Cta	p.L78L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	78					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCAATGGCTAATCGCGCAGCA	0.527											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	17					0	0	0	0	G	108718934	A	G	108718934	2	3	261	1	0	0	0	0	0	0	0	1	6948	98	4	5		5	GUCY2F	23	108718934	Silent	SNP	A	TCGA-CV-6950-01A-11D-1912-08	105476990	108718934	46551626	63	46712											
ATP11C	286410	broad.mit.edu	37	chrX	138832233	138832233	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcaatgttgatgtgctgttCcagtagactataggccagga	10	12	12	7	0	1	2	1	1	0	1	2	3	2	3	2	2	1	4	2	2	4	5			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chrX:138832233C>A	ENST00000370557.1	-	24	3797	c.2770G>T	c.(2770-2772)Gaa>Taa	p.E924*	ATP11C_ENST00000359686.2_Nonsense_Mutation_p.E930*|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.E930*|ATP11C_ENST00000327569.3_Nonsense_Mutation_p.E930*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.E930*|ATP11C_ENST00000460773.1_5'UTR			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	930					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATGTGCTGTTCCAGTAGACTA	0.393													5	59					1.23904e-05	2.55363e-05	1	0	A	138832233	C	A	138832233	4	1	261	1	0	0	0	0	0	1	0	0	1125	864	30	2	701	2	ATP11C	23	138832233	Nonsense_Mutation	SNP	C	TCGA-CV-6950-01A-11D-1912-08	30113299	138832233	16438327	64	46713											
ARHGAP4	393	broad.mit.edu	37	chrX	153186904	153186904	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcactcagggccgcgcTctcccggctctgctgccgcg	3	7	11	20	5	4	0	2	0	2	0	5	0	4	0	4	2	2	3	4	2	0	0			TCGA-CV-6950-01A-11D-1912-08	TCGA-CV-6950-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a341860-44fb-493e-bd46-aeb6610842de	a6b12650-683a-4397-9098-f44def6bca1f	g.chrX:153186904T>A	ENST00000370028.3	-	3	406	c.349A>T	c.(349-351)Agc>Tgc	p.S117C	ARHGAP4_ENST00000350060.5_Missense_Mutation_p.S117C|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.S117C|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.S94C|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.S117C	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	117					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGGCCGCGCTCTCCCGGCTC	0.692													7	7					0	0	0	0	A	153186904	T	A	153186904	3	1	261	1	0	0	0	0	1	0	0	0	887	1551	54	5	2695	5	ARHGAP4	23	153186904	Missense_Mutation	SNP	T	TCGA-CV-6950-01A-11D-1912-08	14354671	153186904	2083656	65	46714											
CLCNKA	1187	broad.mit.edu	37	chr1	16358754	16358754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctggtgcaggccctccagGctgagcctccttccagggct	5	8	13	15	0	0	1	0	1	0	0	3	1	3	1	5	4	3	4	5	4	0	1			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:16358754G>A	ENST00000375692.1	+	18	1941	c.1813G>A	c.(1813-1815)Gct>Act	p.A605T	CLCNKA_ENST00000331433.4_Missense_Mutation_p.A605T|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.A562T|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A605T			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	605	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGCCCTCCAGGCTGAGCCTCC	0.652													17	15					0	0	0	0	A	16358754	G	A	16358754	3	1	262	1	0	0	0	0	1	0	0	0	3499	1203	42	4	1875	4	CLCNKA	1	16358754	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08		16358754	232891867	1	46715											
MAP3K6	9064	broad.mit.edu	37	chr1	27686819	27686819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttcttgtggcgcaggcGtctgtgaagagcgatctctt	6	14	13	8	3	3	2	0	1	3	1	4	3	3	2	0	2	1	2	0	2	2	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:27686819G>A	ENST00000493901.1	-	17	2334	c.2095C>T	c.(2095-2097)Cgc>Tgc	p.R699C	MAP3K6_ENST00000374040.3_Missense_Mutation_p.R691C|MAP3K6_ENST00000357582.2_Missense_Mutation_p.R699C	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	699	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCGCAGGCGTCTGTGAAGA	0.592													9	40					0	0	0	0	A	27686819	G	A	27686819	3	1	262	1	0	0	0	0	1	0	0	0	9323	1145	40	1	1827	1	MAP3K6	1	27686819	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	11328065	27686819	221563802	2	46716											
ZBTB8OS	339487	broad.mit.edu	37	chr1	33116074	33116074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcggatacttggccttgatCgccttctgttcttcagtcaa	6	14	10	11	2	4	1	2	1	2	0	5	2	4	2	2	3	1	1	2	3	2	6			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:33116074C>T	ENST00000468695.1	-	1	111	c.93G>A	c.(91-93)gcG>gcA	p.A31A	ZBTB8OS_ENST00000492007.1_5'UTR|ZBTB8OS_ENST00000373501.2_Silent_p.A19A|ZBTB8OS_ENST00000341885.5_Silent_p.A31A	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite strand	19										endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGCCTTGATCGCCTTCTGTT	0.483													39	74					0	0	0	0	T	33116074	C	T	33116074	2	4	262	1	0	0	0	0	0	0	0	1	17652	871	31	1		1	ZBTB8OS	1	33116074	Silent	SNP	C	TCGA-CV-6951-01A-11D-1912-08	5429255	33116074	216134547	3	46717											
ZMYM6	9204	broad.mit.edu	37	chr1	35452858	35452858	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaacagttgaaaagggtaaTaaaaatttcattgccctttc	16	13	6	6	0	1	1	1	1	0	0	2	1	1	1	1	1	2	2	1	1	8	7			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:35452858T>C	ENST00000357182.4	-	16	4052	c.3825A>G	c.(3823-3825)ttA>ttG	p.L1275L	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000487874.1_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1275					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAAAGGGTAATAAAAATTTCA	0.368													11	40					0	0	0	0	C	35452858	T	C	35452858	2	2	262	1	0	0	0	0	0	0	0	1	17799	1403	49	5		5	ZMYM6	1	35452858	Silent	SNP	T	TCGA-CV-6951-01A-11D-1912-08	2336784	35452858	213797763	4	46718											
TFAP2E	339488	broad.mit.edu	37	chr1	36039988	36039988	+	Frame_Shift_Del	DEL	C	C	-																															ccttccggggctggcggcggCccccggtctggaggacctgc																										TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:36039988delC	ENST00000373235.3	+	2	696	c.488delC	c.(487-489)gcfs	p.A163fs	RP4-728D4.2_ENST00000444348.1_RNA	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	163						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTGGCGGCGGCCCCCGGTCTG	0.711													2	4	---	---	---	---					-	36039988	C	-	36039988	7	5	262	1	0	1	0	1	0	0	0	0	15885	739	26	0	494	0	TFAP2E	1	36039988	Frame_Shift_Del	DEL	C	TCGA-CV-6951-01A-11D-1912-08	587130	36039988	213210633	5	46719											
SLC35D1	23169	broad.mit.edu	37	chr1	67516168	67516168	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggatggagaaccttctcaGaactgtaaacattggcaagc	14	8	10	9	0	1	2	1	0	1	2	2	4	1	3	1	3	4	2	1	3	5	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:67516168G>A	ENST00000235345.5	-	5	497	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	SLC35D1_ENST00000506472.2_Silent_p.L59L	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	138					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	AACCTTCTCAGAACTGTAAAC	0.294													10	24					0	0	0	0	A	67516168	G	A	67516168	2	1	262	1	0	0	0	0	0	0	0	1	14669	933	33	2		2	SLC35D1	1	67516168	Silent	SNP	G	TCGA-CV-6951-01A-11D-1912-08	31476180	67516168	181734453	6	46720											
ZNF644	84146	broad.mit.edu	37	chr1	91406595	91406595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaggcaagataaagttttCactagaaacagtaggagcac	16	10	9	6	0	1	2	1	0	0	2	1	3	1	3	0	2	2	4	0	2	7	7			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:91406595C>T	ENST00000370440.1	-	3	533	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	ZNF644_ENST00000337393.5_Missense_Mutation_p.E106K|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATAAAGTTTTCACTAGAAACA	0.408													10	45					0	0	0	0	T	91406595	C	T	91406595	3	4	262	1	0	0	0	0	1	0	0	0	18155	835	29	2	3683	2	ZNF644	1	91406595	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	23890427	91406595	157844026	7	46721											
LIX1L	128077	broad.mit.edu	37	chr1	145477381	145477381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccggcgccgccggcagcccgGcagtgctgcgagaggccgtg	4	3	18	16	7	0	1	0	0	0	1	0	2	0	1	5	4	3	3	5	4	0	0			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:145477381G>A	ENST00000369308.3	+	1	297	c.223G>A	c.(223-225)Gca>Aca	p.A75T	RP11-315I20.1_ENST00000600340.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse)-like	75										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGCAGCCCGGCAGTGCTGCG	0.776													3	4					0	0	0	0	A	145477381	G	A	145477381	3	1	262	1	0	0	0	0	1	0	0	0	8887	1203	42	4	225	4	LIX1L	1	145477381	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	54070786	145477381	103773240	8	46722											
ACP6	51205	broad.mit.edu	37	chr1	147142082	147142083	+	Frame_Shift_Ins	INS	-	-	C																															ctcctgcagctcggccagggINSccacccgccgctggtgcagg																								rs139439515	by1000genomes	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:147142082_147142083insC	ENST00000369238.5	-	1	535_536	c.88_89insG	c.(88-90)cctfs	p.P30fs	ACP6_ENST00000392988.2_Frame_Shift_Ins_p.P30fs	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	30					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					CTCGGCCAGGGCCACCCGCCGC	0.649													2	4	---	---	---	---					C	147142083	-	C	147142082	7	5	262	1	0	1	1	0	0	0	0	0	165	1203	42	0	1237	0	ACP6	1	147142082	Frame_Shift_Ins	INS	-	TCGA-CV-6951-01A-11D-1912-08	1664701	147142082	102108539	9	46723											
NUP210L	91181	broad.mit.edu	37	chr1	154062033	154062033	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagctggactagggttcAggacacctggatgatttcca	10	10	11	10	0	1	1	1	1	0	0	2	4	2	4	2	4	2	2	2	4	2	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:154062033A>C	ENST00000368559.3	-	16	2296	c.2225T>G	c.(2224-2226)cTg>cGg	p.L742R	NUP210L_ENST00000271854.3_Missense_Mutation_p.L742R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	742						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACTAGGGTTCAGGACACCTGG	0.473													15	78					0	0	0	0	C	154062033	A	C	154062033	3	2	262	1	0	0	0	0	1	0	0	0	10832	188	7	5	3541	5	NUP210L	1	154062033	Missense_Mutation	SNP	A	TCGA-CV-6951-01A-11D-1912-08	6919951	154062033	95188588	10	46724											
FLAD1	80308	broad.mit.edu	37	chr1	154961343	154961343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggtagggaccttatggagGaggggcattatgcccaaagc	11	7	15	8	0	0	0	0	0	0	0	0	3	0	3	2	6	2	2	2	6	4	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:154961343G>A	ENST00000368431.3	+	3	1658	c.838G>A	c.(838-840)Gag>Aag	p.E280K	FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000368428.1_Intron|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000295530.2_Intron	NM_001184892.1	NP_001171821.1	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	0					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTTATGGAGGAGGGGCATTA	0.562													13	18					0	0	0	0	A	154961343	G	A	154961343	3	1	262	1	0	0	0	0	1	0	0	0	5965	1175	41	2	1216	2	FLAD1	1	154961343	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	899310	154961343	94289278	11	46725											
SPTA1	6708	broad.mit.edu	37	chr1	158595954	158595954	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgttttgccagaagagtGaggaagtcaccaaggtctgc	11	9	12	9	0	2	3	1	1	1	2	2	4	2	4	3	2	2	1	3	2	3	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:158595954G>T	ENST00000368148.3	-	42	6072	c.5892C>A	c.(5890-5892)ctC>ctA	p.L1964L	SPTA1_ENST00000368147.3_Silent_p.L1961L|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1964					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGAAGAGTGAGGAAGTCAC	0.393													4	27					1.23904e-05	3.45002e-05	1	0	T	158595954	G	T	158595954	2	4	262	1	0	0	0	0	0	0	0	1	15206	1277	45	2		2	SPTA1	1	158595954	Silent	SNP	G	TCGA-CV-6951-01A-11D-1912-08	3634611	158595954	90654667	12	46726											
ZNF648	127665	broad.mit.edu	37	chr1	182026706	182026706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgagtatccatcatcacccGcaggtagtcggtccccaaga	10	7	9	15	3	2	1	2	0	0	1	5	2	4	1	5	2	0	3	5	2	3	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:182026706G>A	ENST00000339948.3	-	2	647	c.440C>T	c.(439-441)gCg>gTg	p.A147V		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						ATCATCACCCGCAGGTAGTCG	0.562													10	50					0	0	0	0	A	182026706	G	A	182026706	3	1	262	1	0	0	0	0	1	0	0	0	18158	1087	38	1	1270	1	ZNF648	1	182026706	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	23430752	182026706	67223915	13	46727											
HMCN1	83872	broad.mit.edu	37	chr1	186057074	186057074	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttttaggtatctgacaCaggccagtatgtatgtagag	10	15	10	6	0	2	2	0	1	2	1	2	2	2	2	1	2	0	4	1	2	5	7			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:186057074C>G	ENST00000271588.4	+	61	9603	c.9374C>G	c.(9373-9375)aCa>aGa	p.T3125R	HMCN1_ENST00000367492.2_Missense_Mutation_p.T3125R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3125	Ig-like C2-type 29.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTATCTGACACAGGCCAGTAT	0.348													6	52					0	0	0	0	G	186057074	C	G	186057074	3	3	262	1	0	0	0	0	1	0	0	0	7270	478	17	4	9616	4	HMCN1	1	186057074	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	4030368	186057074	63193547	14	46728											
CFHR2	3080	broad.mit.edu	37	chr1	196928195	196928195	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaaactggtatatcccagTtgtgaagaaaaatagaatca	17	9	10	5	0	1	3	1	1	0	2	2	4	2	4	1	2	1	2	1	2	8	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:196928195T>G	ENST00000367415.4	+	5	912	c.798T>G	c.(796-798)agT>agG	p.S266R	CFHR2_ENST00000367421.3_Missense_Mutation_p.S266R	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	266	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TATATCCCAGTTGTGAAGAAA	0.303													12	33					0	0	0	0	G	196928195	T	G	196928195	3	3	262	1	0	0	0	0	1	0	0	0	3314	1722	60	5	816	5	CFHR2	1	196928195	Missense_Mutation	SNP	T	TCGA-CV-6951-01A-11D-1912-08	10871121	196928195	52322426	15	46729											
NAV1	89796	broad.mit.edu	37	chr1	201759817	201759817	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttctcttccttttacagCaaatccggaagcttcgtagg	9	15	7	10	2	1	0	0	0	1	0	5	1	3	1	2	2	3	3	2	2	5	7			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:201759817C>A	ENST00000367296.4	+	13	3664	c.3243_splice	c.e13-1	p.Q1082_splice	NAV1_ENST00000367300.3_Splice_Site_p.Q1025_splice|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Splice_Site_p.Q1038_splice|NAV1_ENST00000367295.1_Splice_Site_p.Q691_splice|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367297.4_Splice_Site_p.Q1074_splice|NAV1_ENST00000295624.6_Splice_Site_p.Q1082_splice	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1082					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTTTTACAGCAAATCCGGAA	0.448													18	89					1.67942e-08	4.9115e-08	1	0	A	201759817	C	A	201759817	5	1	262	1	0	0	0	0	0	0	1	0	10253	724	25	4	3351	4	NAV1	1	201759817	Splice_Site	SNP	C	TCGA-CV-6951-01A-11D-1912-08	4831622	201759817	47490804	16	46730											
PPFIA4	8497	broad.mit.edu	37	chr1	203036878	203036878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctgaattatgaccggaagGagctggagaagaggcgagag	13	5	18	5	2	0	5	0	2	0	3	0	9	0	7	1	5	1	2	1	5	4	1			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:203036878G>A	ENST00000367240.2	+	25	3570	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K	PPFIA4_ENST00000295706.4_Missense_Mutation_p.E521K|PPFIA4_ENST00000414050.2_Missense_Mutation_p.E743K|PPFIA4_ENST00000447715.2_Missense_Mutation_p.E1014K|PPFIA4_ENST00000599966.1_Missense_Mutation_p.E521K|PPFIA4_ENST00000272198.6_Missense_Mutation_p.E530K			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	530					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGACCGGAAGGAGCTGGAGAA	0.582													26	54					0	0	0	0	A	203036878	G	A	203036878	3	1	262	1	0	0	0	0	1	0	0	0	12383	1175	41	2	1638	2	PPFIA4	1	203036878	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	1277061	203036878	46213743	17	46731											
ZP4	57829	broad.mit.edu	37	chr1	238048742	238048742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagggggtcagtgctgggtGttgcccaacactgttgtagg	6	11	16	8	0	2	0	2	0	0	0	2	0	2	0	1	4	3	4	1	4	2	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:238048742G>A	ENST00000366570.4	-	8	1267	c.1109C>T	c.(1108-1110)aCa>aTa	p.T370I	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	370	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGTGCTGGGTGTTGCCCAACA	0.537													17	56					0	0	0	0	A	238048742	G	A	238048742	3	1	262	1	0	0	0	0	1	0	0	0	18311	1377	48	4	533	4	ZP4	1	238048742	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	35011864	238048742	11201879	18	46732											
ZNF669	79862	broad.mit.edu	37	chr1	247264162	247264162	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttacattcgtagggtttCtctccagtgtgagttcgttc	5	17	9	10	2	1	1	0	1	1	0	7	1	3	1	2	1	1	4	2	1	2	6			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:247264162C>G	ENST00000343381.6	-	4	1081	c.909G>C	c.(907-909)gaG>gaC	p.E303D	ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.E217D|ZNF669_ENST00000366501.1_3'UTR	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CGTAGGGTTTCTCTCCAGTGT	0.383													7	49					0	0	0	0	G	247264162	C	G	247264162	3	3	262	1	0	0	0	0	1	0	0	0	18171	912	32	2	489	2	ZNF669	1	247264162	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	9215420	247264162	1986459	19	46733											
OR2T3	343173	broad.mit.edu	37	chr1	248637569	248637569	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagatgtcaccagggctctGaggagcatgatgcagtcaag	13	7	13	8	0	3	3	2	2	1	1	3	4	3	4	1	2	2	3	1	2	2	0			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:248637569G>A	ENST00000359594.2	+	1	943	c.918G>A	c.(916-918)ctG>ctA	p.L306L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	306				L -> M (in Ref. 3; BAC05839).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGGGCTCTGAGGAGCATGA	0.478													44	349					0	0	0	0	A	248637569	G	A	248637569	2	1	262	1	0	0	0	0	0	0	0	1	11094	1277	45	2		2	OR2T3	1	248637569	Silent	SNP	G	TCGA-CV-6951-01A-11D-1912-08	1373407	248637569	613052	20	46734											
ZNF692	55657	broad.mit.edu	37	chr1	249151487	249151487	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacttctccgagtagtatGtggaagggaggctggcttgg	8	10	15	8	1	1	0	0	0	1	0	2	3	1	2	2	5	1	4	2	5	4	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:249151487G>C	ENST00000451251.1	-	4	781	c.436C>G	c.(436-438)Cat>Gat	p.H146D	ZNF692_ENST00000306601.4_Missense_Mutation_p.H141D|ZNF692_ENST00000366471.3_Missense_Mutation_p.H141D|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366469.5_Missense_Mutation_p.H141D|ZNF692_ENST00000427146.1_Missense_Mutation_p.H141D	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGAGTAGTATGTGGAAGGGAG	0.567													42	53					0	0	0	0	C	249151487	G	C	249151487	3	2	262	1	0	0	0	0	1	0	0	0	18192	1377	48	4	1174	4	ZNF692	1	249151487	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	513918	249151487	99134	21	46735											
ADAM17	6868	broad.mit.edu	37	chr2	9661434	9661434	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttacctcttgtggagacttGagaatgcgaatctatactta	11	15	8	7	1	2	2	0	1	2	2	2	5	2	2	1	1	3	0	1	1	6	7			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:9661434G>A	ENST00000310823.3	-	8	1037	c.855C>T	c.(853-855)ctC>ctT	p.L285L		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	285	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	p.L285L(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GTGGAGACTTGAGAATGCGAA	0.358													19	65					0	0	0	0	A	9661434	G	A	9661434	2	1	262	1	0	0	0	0	0	0	0	1	238	1277	45	2		2	ADAM17	2	9661434	Silent	SNP	G	TCGA-CV-6951-01A-11D-1912-08		9661434	233537939	22	46736											
C2orf16	84226	broad.mit.edu	37	chr2	27804296	27804296	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcactgcagtccccccgaGaggagctgtcacagtctctc	9	8	9	15	1	3	1	2	0	1	1	6	3	4	2	3	1	2	2	3	1	1	0			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:27804296G>A	ENST00000408964.2	+	1	4908	c.4857G>A	c.(4855-4857)gaG>gaA	p.E1619E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1619	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTCCCCCCGAGAGGAGCTGTC	0.562													32	71					0	0	0	0	A	27804296	G	A	27804296	2	1	262	1	0	0	0	0	0	0	0	1	2177	933	33	2		2	C2orf16	2	27804296	Silent	SNP	G	TCGA-CV-6951-01A-11D-1912-08	18142862	27804296	215395077	23	46737											
C2orf16	84226	broad.mit.edu	37	chr2	27804510	27804510	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccattgcagtccctctGagagaagacatcgcagtccc	11	7	10	13	1	1	3	0	1	1	2	4	5	3	3	3	0	2	2	3	0	2	1			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:27804510G>T	ENST00000408964.2	+	1	5122	c.5071G>T	c.(5071-5073)Gag>Tag	p.E1691*		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1691	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGTCCCTCTGAGAGAAGACA	0.577													41	140					2.05212e-20	6.27786e-20	1	0	T	27804510	G	T	27804510	4	4	262	1	0	0	0	0	0	1	0	0	2177	1291	45	2	5073	2	C2orf16	2	27804510	Nonsense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	214	27804510	215394863	24	46738											
WDR92	116143	broad.mit.edu	37	chr2	68365916	68365916	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccgtaatgccatatttctGagatcaaatagtttgatatc	13	14	6	8	1	2	2	1	2	1	1	3	3	2	2	2	0	1	2	2	0	5	6			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:68365916G>C	ENST00000295121.6	-	5	707	c.591C>G	c.(589-591)ctC>ctG	p.L197L	WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Silent_p.L197L|WDR92_ENST00000406245.2_Silent_p.L96L	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	197					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						CCATATTTCTGAGATCAAATA	0.383													32	114					0	0	0	0	C	68365916	G	C	68365916	2	2	262	1	0	0	0	0	0	0	0	1	17435	1277	45	2		2	WDR92	2	68365916	Silent	SNP	G	TCGA-CV-6951-01A-11D-1912-08	40561406	68365916	174833457	25	46739											
PLEK	5341	broad.mit.edu	37	chr2	68615548	68615548	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggttcttctgtgaagagaaTtccagtgatgatgatgtgat	10	14	13	4	0	2	6	0	5	2	1	3	7	3	6	1	1	0	1	1	1	2	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:68615548T>G	ENST00000234313.7	+	6	866	c.687T>G	c.(685-687)aaT>aaG	p.N229K		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	229					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GTGAAGAGAATTCCAGTGATG	0.453													42	42					0	0	0	0	G	68615548	T	G	68615548	3	3	262	1	0	0	0	0	1	0	0	0	12125	1490	52	5	709	5	PLEK	2	68615548	Missense_Mutation	SNP	T	TCGA-CV-6951-01A-11D-1912-08	249632	68615548	174583825	26	46740											
DPP10	57628	broad.mit.edu	37	chr2	116572538	116572538	+	Frame_Shift_Del	DEL	G	G	-																															gaagattaggttcagtagaaGtaaaggaccaaataacagct																										TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:116572538delG	ENST00000410059.1	+	20	2350	c.1870delG	c.(1870-1872)tafs	p.V624fs	DPP10_ENST00000409163.1_Frame_Shift_Del_p.V574fs|DPP10_ENST00000393147.2_Frame_Shift_Del_p.V628fs|DPP10_ENST00000310323.8_Frame_Shift_Del_p.V617fs	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	624					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTCAGTAGAAGTAAAGGACCA	0.358													10	78	---	---	---	---					-	116572538	G	-	116572538	7	5	262	1	0	1	0	1	0	0	0	0	4763	1029	36	0	2119	0	DPP10	2	116572538	Frame_Shift_Del	DEL	G	TCGA-CV-6951-01A-11D-1912-08	47956990	116572538	126626835	27	46741											
SAP130	79595	broad.mit.edu	37	chr2	128712891	128712891	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccggagtggccatagaCacgtggatttcagacttggg	9	9	15	8	2	1	3	1	1	0	2	1	5	1	5	2	4	0	0	2	4	1	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:128712891C>A	ENST00000357702.5	-	16	2300	c.2169G>T	c.(2167-2169)gtG>gtT	p.V723V	SAP130_ENST00000259235.3_Silent_p.V688V|SAP130_ENST00000259234.6_Silent_p.V696V	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	688	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGGCCATAGACACGTGGATTT	0.463													16	52					3.45872e-05	9.51659e-05	1	0	A	128712891	C	A	128712891	2	1	262	1	0	0	0	0	0	0	0	1	13916	465	17	4		4	SAP130	2	128712891	Silent	SNP	C	TCGA-CV-6951-01A-11D-1912-08	12140353	128712891	114486482	28	46742											
SPOPL	339745	broad.mit.edu	37	chr2	139316665	139316665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaggtgcctgagtgtcGtctagcagaagatttaggta	10	13	13	5	1	1	4	0	2	1	2	2	4	1	4	1	2	2	2	1	2	5	5			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:139316665G>T	ENST00000280098.4	+	6	933	c.554G>T	c.(553-555)cGt>cTt	p.R185L		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	185						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CCTGAGTGTCGTCTAGCAGAA	0.368													29	55					1.2476e-16	3.79172e-16	1	0	T	139316665	G	T	139316665	3	4	262	1	0	0	0	0	1	0	0	0	15175	1145	40	3	572	3	SPOPL	2	139316665	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	10603774	139316665	103882708	29	46743											
FIGN	55137	broad.mit.edu	37	chr2	164466892	164466892	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	accagcaatgtcattccagtCcactggaggtccttgggtga	9	10	11	11	0	1	1	1	1	0	0	4	2	4	2	4	3	1	1	4	3	1	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:164466892C>G	ENST00000333129.3	-	3	1764	c.1450G>C	c.(1450-1452)Gac>Cac	p.D484H	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	484						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCATTCCAGTCCACTGGAGGT	0.512													11	89					0	0	0	0	G	164466892	C	G	164466892	3	3	262	1	0	0	0	0	1	0	0	0	5936	855	30	2	833	2	FIGN	2	164466892	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	25150227	164466892	78732481	30	46744											
NFE2L2	4780	broad.mit.edu	37	chr2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcgacttactccaagatCtatatcttgcctccaaagta	11	14	4	12	1	3	1	0	0	3	1	6	2	5	1	3	0	2	1	3	0	6	6			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			9	36					0	0	0	0	G	178098960	C	G	178098960	3	3	262	1	0	0	0	0	1	0	0	0	10438	913	32	2	1748	2	NFE2L2	2	178098960	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	13632068	178098960	65100413	31	46745											
GULP1	51454	broad.mit.edu	37	chr2	189434754	189434754	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataatgattttctttttaGatccaagacttagaaacaga	16	14	5	6	0	1	5	0	1	1	4	2	5	2	5	1	0	1	0	1	0	6	7			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:189434754G>T	ENST00000409580.1	+	10	1230		c.e10-1		GULP1_ENST00000359135.3_Splice_Site|GULP1_ENST00000409609.1_Splice_Site|GULP1_ENST00000409805.1_Splice_Site|GULP1_ENST00000409843.1_Splice_Site|GULP1_ENST00000409830.1_Splice_Site			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1						apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TTTCTTTTTAGATCCAAGACT	0.279													6	22					3.59834e-05	9.84251e-05	1	0	T	189434754	G	T	189434754	5	4	262	1	0	0	0	0	0	0	1	0	6951	956	33	2	542	2	GULP1	2	189434754	Splice_Site	SNP	G	TCGA-CV-6951-01A-11D-1912-08	11335794	189434754	53764619	32	46746											
COL3A1	1281	broad.mit.edu	37	chr2	189867029	189867029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatttttctcttcagggtgaGagaggtgaaactggccctcc	8	13	11	9	0	2	3	1	2	1	1	4	4	3	3	2	3	1	0	2	3	2	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:189867029G>C	ENST00000304636.3	+	35	2567	c.2397G>C	c.(2395-2397)gaG>gaC	p.E799D	COL3A1_ENST00000317840.5_Missense_Mutation_p.E799D	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	799	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTCAGGGTGAGAGAGGTGAAA	0.438													9	31					0	0	0	0	C	189867029	G	C	189867029	3	2	262	1	0	0	0	0	1	0	0	0	3718	933	33	2	2535	2	COL3A1	2	189867029	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	432275	189867029	53332344	33	46747											
ATIC	471	broad.mit.edu	37	chr2	216191665	216191665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacatcagacccctgccCagctgtacacactgcagccc	10	5	6	20	0	1	1	1	0	0	1	1	1	1	1	5	0	5	3	5	0	1	1			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:216191665C>A	ENST00000435675.1	+	6	1040	c.649C>A	c.(649-651)Cag>Aag	p.Q217K	ATIC_ENST00000540518.1_Missense_Mutation_p.Q159K|ATIC_ENST00000236959.9_Missense_Mutation_p.Q218K			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	218					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GACCCCTGCCCAGCTGTACAC	0.483			T	ALK	ALCL								26	79					7.92952e-12	2.37886e-11	1	0	A	216191665	C	A	216191665	3	1	262	1	0	0	0	0	1	0	0	0	1109	595	21	4	678	4	ATIC	2	216191665	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	26324636	216191665	27007708	34	46748											
PTH1R	5745	broad.mit.edu	37	chr3	46937299	46937299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaagataaggcatctGggaagctctaccctgagtct	12	8	11	10	0	3	2	0	1	3	1	3	4	3	4	2	3	2	2	2	3	4	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:46937299G>T	ENST00000313049.5	+	3	456	c.253G>T	c.(253-255)Ggg>Tgg	p.G85W	PTH1R_ENST00000430002.2_Missense_Mutation_p.G85W|PTH1R_ENST00000418619.1_Missense_Mutation_p.G85W|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000449590.1_Missense_Mutation_p.G85W			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	85						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TAAGGCATCTGGGAAGCTCTA	0.552											OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	26					2.17888e-05	6.03082e-05	1	0	T	46937299	G	T	46937299	3	4	262	1	0	0	0	0	1	0	0	0	12838	1348	47	4	263	4	PTH1R	3	46937299	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08		46937299	151085131	35	46749											
NICN1	84276	broad.mit.edu	37	chr3	49466588	49466588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcgatgaccagcacgcCaggccggccttgggaggtcc	8	5	14	14	3	0	1	0	1	0	0	2	4	1	2	5	4	1	1	5	4	0	1			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:49466588C>T	ENST00000273598.3	-	1	171	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	NICN1_ENST00000436744.2_Missense_Mutation_p.G29S|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	29						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCAGCACGCCAGGCCGGCCT	0.682													10	18					0	0	0	0	T	49466588	C	T	49466588	3	4	262	1	0	0	0	0	1	0	0	0	10483	594	21	4	580	4	NICN1	3	49466588	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	2529289	49466588	148555842	36	46750											
PARP15	165631	broad.mit.edu	37	chr3	122340298	122340298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttttttcagctgcacaGcctcacagagattttataat	10	16	5	10	0	2	1	2	0	0	1	3	2	3	1	2	0	3	2	2	0	2	6			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:122340298G>T	ENST00000483793.1	+	6	733	c.693G>T	c.(691-693)caG>caT	p.Q231H	PARP15_ENST00000310366.4_Missense_Mutation_p.Q123H|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000464300.2_Missense_Mutation_p.Q357H|PARP15_ENST00000493645.1_Missense_Mutation_p.Q123H			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	400	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CAGCTGCACAGCCTCACAGAG	0.393													38	22					1.8453e-21	5.72042e-21	1	0	T	122340298	G	T	122340298	3	4	262	1	0	0	0	0	1	0	0	0	11530	962	34	4	1170	4	PARP15	3	122340298	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	72873710	122340298	75682132	37	46751											
OTOL1	131149	broad.mit.edu	37	chr3	161221279	161221279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgggaagaagggctctcGgggctttaaaggctccaagg	10	7	15	9	1	1	1	0	0	1	1	3	2	2	2	1	6	0	3	1	6	5	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:161221279G>A	ENST00000327928.4	+	4	983	c.983G>A	c.(982-984)cGg>cAg	p.R328Q		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	328	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAGGGCTCTCGGGGCTTTAAA	0.572													4	27					0	0	0	0	A	161221279	G	A	161221279	3	1	262	1	0	0	0	0	1	0	0	0	11375	1116	39	1	997	1	OTOL1	3	161221279	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	38880981	161221279	36801151	38	46752											
PPEF2	5470	broad.mit.edu	37	chr4	76811247	76811247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatctcggagtcctgggCgaatctgtcctcagtgaata	8	12	10	11	2	4	1	2	1	2	0	7	3	6	2	2	2	0	0	2	2	3	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:76811247C>T	ENST00000286719.7	-	5	636	c.280G>A	c.(280-282)Gcc>Acc	p.A94T		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	94					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGTCCTGGGCGAATCTGTCC	0.522													35	38					0	0	0	0	T	76811247	C	T	76811247	3	4	262	1	0	0	0	0	1	0	0	0	12379	768	27	1	2033	1	PPEF2	4	76811247	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08		76811247	114343029	39	46753											
PDHA2	5161	broad.mit.edu	37	chr4	96761704	96761704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtccgatccattctcgcaGagctgacgggaagaagagga	11	7	13	10	3	1	4	0	1	1	3	4	7	3	6	2	2	1	2	2	2	2	1			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:96761704G>C	ENST00000295266.4	+	1	466	c.403G>C	c.(403-405)Gag>Cag	p.E135Q		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	135					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CATTCTCGCAGAGCTGACGGG	0.512													41	37					0	0	0	0	C	96761704	G	C	96761704	3	2	262	1	0	0	0	0	1	0	0	0	11736	943	33	2	405	2	PDHA2	4	96761704	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	19950457	96761704	94392572	40	46754											
CCRN4L	25819	broad.mit.edu	37	chr4	139965958	139965958	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttccagccactcctcagtaGactaggctatcaaggcacgt	10	9	8	14	1	2	1	2	0	0	1	4	1	4	1	3	2	1	3	3	2	4	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:139965958G>C	ENST00000280614.2	+	3	819	c.626G>C	c.(625-627)aGa>aCa	p.R209T	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	209					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					CTCCTCAGTAGACTAGGCTAT	0.458													16	77					0	0	0	0	C	139965958	G	C	139965958	3	2	262	1	0	0	0	0	1	0	0	0	2980	942	33	2	636	2	CCRN4L	4	139965958	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	43204254	139965958	51188318	41	46755											
TKTL2	84076	broad.mit.edu	37	chr4	164394488	164394488	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtataagccattccacaTgcagtacctaatccctgacc	12	9	5	15	0	0	1	0	1	0	0	2	1	2	1	6	0	3	3	6	0	4	5			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:164394488T>A	ENST00000280605.3	-	1	559	c.399A>T	c.(397-399)gcA>gcT	p.A133A		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	133						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCATTCCACATGCAGTACCTA	0.547													20	65					0	0	0	0	A	164394488	T	A	164394488	2	1	262	1	0	0	0	0	0	0	0	1	16030	1451	51	5		5	TKTL2	4	164394488	Silent	SNP	T	TCGA-CV-6951-01A-11D-1912-08	24428530	164394488	26759788	42	46756											
TTC33	23548	broad.mit.edu	37	chr5	40716573	40716573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggttcattggatagatgtGaagggctacttgaaaacttc	12	12	12	5	0	1	3	1	2	0	1	2	4	1	4	0	3	2	2	0	3	5	6			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:40716573G>A	ENST00000337702.4	-	5	615	c.463C>T	c.(463-465)Cac>Tac	p.H155Y	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	155							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GGATAGATGTGAAGGGCTACT	0.373													20	73					0	0	0	0	A	40716573	G	A	40716573	3	1	262	1	0	0	0	0	1	0	0	0	16798	1290	45	2	329	2	TTC33	5	40716573	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08		40716573	140198687	43	46757											
DHFR	1719	broad.mit.edu	37	chr5	79929781	79929781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgatccttgtcacaaataGtttaagatggcctgggtgat	11	13	10	7	0	1	3	1	2	0	1	2	3	2	3	2	2	0	1	2	2	3	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:79929781G>T	ENST00000439211.2	-	5	893	c.400C>A	c.(400-402)Cta>Ata	p.L134I	DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000511032.1_Intron|DHFR_ENST00000505337.1_Missense_Mutation_p.L134I|DHFR_ENST00000504396.1_Missense_Mutation_p.L82I	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	134	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	GTCACAAATAGTTTAAGATGG	0.328													13	32					1.99824e-07	5.7713e-07	1	0	T	79929781	G	T	79929781	3	4	262	1	0	0	0	0	1	0	0	0	4518	1020	36	4	171	4	DHFR	5	79929781	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	39213208	79929781	100985479	44	46758											
ACOT12	134526	broad.mit.edu	37	chr5	80667608	80667608	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctctagtaacttttgctttGatggttataacttgtccaac	9	17	7	8	0	1	1	0	1	1	0	2	1	2	1	1	1	4	4	1	1	5	8			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:80667608G>C	ENST00000307624.3	-	3	247	c.219C>G	c.(217-219)atC>atG	p.I73M	ACOT12_ENST00000513751.1_Missense_Mutation_p.I73M	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	73	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTTTTGCTTTGATGGTTATAA	0.363													18	44					0	0	0	0	C	80667608	G	C	80667608	3	2	262	1	0	0	0	0	1	0	0	0	150	1280	45	2	1500	2	ACOT12	5	80667608	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	737827	80667608	100247652	45	46759											
MGAT4B	11282	broad.mit.edu	37	chr5	179226007	179226007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaggcccagaagaagtcctCgcgcaggtaggctttctcca	10	7	12	12	2	1	2	0	0	1	2	4	3	2	2	3	3	0	3	3	3	4	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:179226007C>T	ENST00000337755.5	-	10	2195	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	MGAT4B_ENST00000292591.7_Missense_Mutation_p.E422K	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	422					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAAGTCCTCGCGCAGGTAG	0.607													54	76					0	0	0	0	T	179226007	C	T	179226007	3	4	262	1	0	0	0	0	1	0	0	0	9615	893	31	1	402	1	MGAT4B	5	179226007	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	98558399	179226007	1689253	46	46760											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217479	26217479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagccatccgcaacgacgagGagctaaataagcttctaggt	13	8	10	10	3	1	0	0	0	1	0	2	3	2	1	2	2	4	3	2	2	6	5			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:26217479G>A	ENST00000303910.2	+	1	315	c.277G>A	c.(277-279)Gag>Aag	p.E93K		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	93					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				CAACGACGAGGAGCTAAATAA	0.592													19	76					0	0	0	0	A	26217479	G	A	26217479	3	1	262	1	0	0	0	0	1	0	0	0	7182	1175	41	2	279	2	HIST1H2AE	6	26217479	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08		26217479	144897588	47	46761											
PGBD1	84547	broad.mit.edu	37	chr6	28268867	28268867	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattctggacttttgaatctCaagagcgaaaagttgaaccc	13	11	9	8	1	2	3	1	2	2	1	3	6	2	4	1	1	2	1	1	1	5	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:28268867C>G	ENST00000405948.2	+	7	1656	c.1236C>G	c.(1234-1236)ctC>ctG	p.L412L	PGBD1_ENST00000259883.3_Silent_p.L412L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	412					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TTTTGAATCTCAAGAGCGAAA	0.348													15	67					0	0	0	0	G	28268867	C	G	28268867	2	3	262	1	0	0	0	0	0	0	0	1	11852	813	29	2		2	PGBD1	6	28268867	Silent	SNP	C	TCGA-CV-6951-01A-11D-1912-08	2051388	28268867	142846200	48	46762											
RNF8	9025	broad.mit.edu	37	chr6	37344797	37344797	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgtattatttgttcagaAtacttcattgaggtaattat	13	18	6	4	0	2	2	2	1	0	1	2	2	2	2	0	1	1	3	0	1	7	9			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:37344797A>G	ENST00000373479.4	+	6	1417	c.1224A>G	c.(1222-1224)gaA>gaG	p.E408E	RNF8_ENST00000469731.1_Silent_p.E408E	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	408					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TTTGTTCAGAATACTTCATTG	0.368													7	9					0	0	0	0	G	37344797	A	G	37344797	2	3	262	1	0	0	0	0	0	0	0	1	13585	98	4	5		5	RNF8	6	37344797	Silent	SNP	A	TCGA-CV-6951-01A-11D-1912-08	9075930	37344797	133770270	49	46763											
EPHA7	2045	broad.mit.edu	37	chr6	94120657	94120657	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatattcctgccagtgtcatAgtctgtttcataatagtaca	11	16	6	8	0	3	0	2	0	1	0	4	0	4	0	2	0	2	2	2	0	6	8			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:94120657A>T	ENST00000369303.4	-	3	578	c.394T>A	c.(394-396)Tat>Aat	p.Y132N	EPHA7_ENST00000369297.1_Missense_Mutation_p.Y132N	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	132						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCAGTGTCATAGTCTGTTTCA	0.368													33	46					0	0	0	0	T	94120657	A	T	94120657	3	4	262	1	0	0	0	0	1	0	0	0	5210	420	15	5	2662	5	EPHA7	6	94120657	Missense_Mutation	SNP	A	TCGA-CV-6951-01A-11D-1912-08	56775860	94120657	76994410	50	46764											
LAMA2	3908	broad.mit.edu	37	chr6	129475657	129475657	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccttaatgcagcatgcaaTtgtcatggaaaagctgaaga	14	11	9	7	0	1	2	1	1	0	1	2	3	2	3	1	1	4	4	1	1	5	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:129475657T>A	ENST00000421865.2	+	8	1084	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	345	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGCATGCAATTGTCATGGAA	0.294													14	32					0	0	0	0	A	129475657	T	A	129475657	3	1	262	1	0	0	0	0	1	0	0	0	8659	1490	52	5	1065	5	LAMA2	6	129475657	Missense_Mutation	SNP	T	TCGA-CV-6951-01A-11D-1912-08	35355000	129475657	41639410	51	46765											
HBS1L	10767	broad.mit.edu	37	chr6	135371740	135371740	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgttgacggcgaaatacaaTaatcatcctctacagactgg	13	10	8	10	2	2	2	1	1	1	1	3	3	3	2	1	2	2	1	1	2	5	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:135371740T>C	ENST00000367837.5	-	2	295	c.89A>G	c.(88-90)tAt>tGt	p.Y30C	HBS1L_ENST00000367824.4_5'UTR|HBS1L_ENST00000367822.5_Missense_Mutation_p.Y30C|HBS1L_ENST00000367820.2_Missense_Mutation_p.Y30C|HBS1L_ENST00000525067.1_Intron|HBS1L_ENST00000415177.2_Missense_Mutation_p.Y30C|HBS1L_ENST00000445176.2_5'UTR|HBS1L_ENST00000314674.3_Missense_Mutation_p.Y30C|HBS1L_ENST00000367826.2_Missense_Mutation_p.Y30C	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	30					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CGAAATACAATAATCATCCTC	0.299													10	8					0	0	0	0	C	135371740	T	C	135371740	3	2	262	1	0	0	0	0	1	0	0	0	7037	1406	49	5	3506	5	HBS1L	6	135371740	Missense_Mutation	SNP	T	TCGA-CV-6951-01A-11D-1912-08	5896083	135371740	35743327	52	46766											
SLC22A2	6582	broad.mit.edu	37	chr6	160666488	160666488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccagttgtacatcaatatCatagtatgtttccttatctg	11	17	5	8	0	3	0	2	0	1	0	4	0	4	0	2	0	2	4	2	0	7	8			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:160666488C>T	ENST00000366952.1	-	8	2465	c.984G>A	c.(982-984)atG>atA	p.M328I	SLC22A2_ENST00000366953.3_Missense_Mutation_p.M349I|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	349					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ACATCAATATCATAGTATGTT	0.373													7	25					0	0	0	0	T	160666488	C	T	160666488	3	4	262	1	0	0	0	0	1	0	0	0	14539	826	29	2	644	2	SLC22A2	6	160666488	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	25294748	160666488	10448579	53	46767											
INTS1	26173	broad.mit.edu	37	chr7	1526591	1526591	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgctccttgctctcGccctcgtcgtcctcctcccc	0	13	6	22	3	2	0	0	0	2	0	9	0	6	0	7	0	2	2	7	0	0	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:1526591G>A	ENST00000389470.4	-	22	3221	c.3222C>T	c.(3220-3222)ggC>ggT	p.G1074G	INTS1_ENST00000404767.3_Silent_p.G931G			Q8N201	INT1_HUMAN	integrator complex subunit 1	931					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCTTGCTCTCGCCCTCGTCGT	0.692													5	20					0	0	0	0	A	1526591	G	A	1526591	2	1	262	1	0	0	0	0	0	0	0	1	7828	1074	38	1		1	INTS1	7	1526591	Silent	SNP	G	TCGA-CV-6951-01A-11D-1912-08		1526591	157612072	54	46768											
MEOX2	4223	broad.mit.edu	37	chr7	15725704	15725704	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtcgggctggaggcaGaggctgtgccgagccgcact	7	5	17	12	3	0	2	0	0	0	2	1	4	0	3	3	4	2	4	3	4	0	0			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:15725704G>T	ENST00000262041.5	-	1	733	c.324C>A	c.(322-324)ctC>ctA	p.L108L		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	108					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GCTGGAGGCAGAGGCTGTGCC	0.667													10	3					4.68919e-08	1.3628e-07	1	0	T	15725704	G	T	15725704	2	4	262	1	0	0	0	0	0	0	0	1	9543	929	33	2		2	MEOX2	7	15725704	Silent	SNP	G	TCGA-CV-6951-01A-11D-1912-08	14199113	15725704	143412959	55	46769											
FKBP14	55033	broad.mit.edu	37	chr7	30066006	30066006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcccctcctttggtcttgCgatggcagatgaatggcttc	7	13	10	11	1	1	2	0	1	1	1	4	3	3	2	3	3	1	2	3	3	2	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:30066006C>T	ENST00000222803.5	-	1	294	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	40					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						TTTGGTCTTGCGATGGCAGAT	0.468													6	206					0	0	0	0	T	30066006	C	T	30066006	3	4	262	1	0	0	0	0	1	0	0	0	5949	768	27	1	532	1	FKBP14	7	30066006	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	14340302	30066006	129072657	56	46770											
ELMO1	9844	broad.mit.edu	37	chr7	36895309	36895309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccgcgtcaggtcgctcatCatgtccttcccgagtagcgc	5	11	10	15	5	3	0	3	0	0	0	7	1	6	0	3	1	1	2	3	1	1	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:36895309C>T	ENST00000310758.4	-	22	2678	c.2031G>A	c.(2029-2031)atG>atA	p.M677I	ELMO1_ENST00000341056.3_Missense_Mutation_p.M379I|ELMO1_ENST00000396045.3_Missense_Mutation_p.M197I|ELMO1_ENST00000396040.2_Missense_Mutation_p.M197I|ELMO1_ENST00000448602.1_Missense_Mutation_p.M677I|ELMO1_ENST00000442504.1_Missense_Mutation_p.M677I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	677					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGTCGCTCATCATGTCCTTCC	0.542													38	150					0	0	0	0	T	36895309	C	T	36895309	3	4	262	1	0	0	0	0	1	0	0	0	5103	826	29	2	156	2	ELMO1	7	36895309	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	6829303	36895309	122243354	57	46771											
ZNF479	90827	broad.mit.edu	37	chr7	57188597	57188597	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttccagtatatcttgttttAtctctattggaatttgaaaa	11	20	5	5	0	2	1	0	1	2	0	4	2	3	2	1	1	0	2	1	1	7	9			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:57188597A>G	ENST00000331162.4	-	5	795	c.525T>C	c.(523-525)gaT>gaC	p.D175D		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATCTTGTTTTATCTCTATTGG	0.279													18	40					0	0	0	0	G	57188597	A	G	57188597	2	3	262	1	0	0	0	0	0	0	0	1	18028	446	16	5		5	ZNF479	7	57188597	Silent	SNP	A	TCGA-CV-6951-01A-11D-1912-08	20293288	57188597	101950066	58	46772											
PTPN12	5782	broad.mit.edu	37	chr7	77256506	77256506	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgcagtgtaacacaatcaAacaaagtttcagttactcca	16	10	5	10	0	2	0	2	0	0	0	3	0	3	0	1	0	4	4	1	0	5	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:77256506A>G	ENST00000248594.6	+	13	1782	c.1510A>G	c.(1510-1512)Aac>Gac	p.N504D	PTPN12_ENST00000435495.2_Missense_Mutation_p.N374D|PTPN12_ENST00000415482.2_Missense_Mutation_p.N385D	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	504						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AACACAATCAAACAAAGTTTC	0.428													8	52					0	0	0	0	G	77256506	A	G	77256506	3	3	262	1	0	0	0	0	1	0	0	0	12861	14	1	5	1560	5	PTPN12	7	77256506	Missense_Mutation	SNP	A	TCGA-CV-6951-01A-11D-1912-08	20067909	77256506	81882157	59	46773											
ZNF804B	219578	broad.mit.edu	37	chr7	88963135	88963135	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccttaccaaggaaaaagAggtaaatatctcaccaagcc	18	6	6	11	0	1	1	1	0	1	1	2	2	1	2	4	2	2	1	4	2	8	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:88963135A>C	ENST00000333190.4	+	4	1448	c.839A>C	c.(838-840)gAg>gCg	p.E280A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	280						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGGAAAAAGAGGTAAATATC	0.358										HNSCC(36;0.09)			11	39					0	0	0	0	C	88963135	A	C	88963135	3	2	262	1	0	0	0	0	1	0	0	0	18264	304	11	5	853	5	ZNF804B	7	88963135	Missense_Mutation	SNP	A	TCGA-CV-6951-01A-11D-1912-08	11706629	88963135	70175528	60	46774											
SAMD9L	219285	broad.mit.edu	37	chr7	92761451	92761451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgggtatacctcattttCagaagaaccatataatcaat	14	15	5	7	0	3	2	3	0	0	2	3	2	3	2	2	1	2	1	2	1	7	8			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:92761451C>T	ENST00000318238.4	-	5	5050	c.3834G>A	c.(3832-3834)ctG>ctA	p.L1278L	SAMD9L_ENST00000437805.1_Silent_p.L1278L|SAMD9L_ENST00000411955.1_Silent_p.L1278L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1278										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACCTCATTTTCAGAAGAACCA	0.328													16	61					0	0	0	0	T	92761451	C	T	92761451	2	4	262	1	0	0	0	0	0	0	0	1	13912	813	29	2		2	SAMD9L	7	92761451	Silent	SNP	C	TCGA-CV-6951-01A-11D-1912-08	3798316	92761451	66377212	61	46775											
EPHB4	2050	broad.mit.edu	37	chr7	100420076	100420076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctcccgaggcacagtctCcgggaatcgagtcaggttca	9	7	12	13	3	3	0	2	0	1	0	6	3	4	1	2	3	1	3	2	3	1	1			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:100420076C>T	ENST00000358173.3	-	4	1093	c.625G>A	c.(625-627)Gag>Aag	p.E209K	EPHB4_ENST00000360620.3_Missense_Mutation_p.E209K|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	209	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCACAGTCTCCGGGAATCGA	0.657													11	31					0	0	0	0	T	100420076	C	T	100420076	3	4	262	1	0	0	0	0	1	0	0	0	5215	864	30	2	2394	2	EPHB4	7	100420076	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	7658625	100420076	58718587	62	46776											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519867	113519867	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccagtatgtaattgcactAgttcatcactactagtatct	11	15	6	9	0	3	0	2	0	1	0	3	0	3	0	1	0	3	5	1	0	6	8			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:113519867A>G	ENST00000284601.3	-	4	1348	c.1280T>C	c.(1279-1281)cTa>cCa	p.L427P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	427					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAATTGCACTAGTTCATCACT	0.428													85	62					0	0	0	0	G	113519867	A	G	113519867	3	3	262	1	0	0	0	0	1	0	0	0	12447	420	15	5	2092	5	PPP1R3A	7	113519867	Missense_Mutation	SNP	A	TCGA-CV-6951-01A-11D-1912-08	13099791	113519867	45618796	63	46777											
CTTNBP2	83992	broad.mit.edu	37	chr7	117450885	117450885	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttgcattttcttgcagtgGgccatgactgcttcaaggat	7	15	10	9	0	3	1	1	1	2	0	3	2	3	2	1	2	3	3	1	2	1	5			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:117450885G>A	ENST00000160373.3	-	3	439	c.348C>T	c.(346-348)gcC>gcT	p.A116A		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	116										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCTTGCAGTGGGCCATGACTG	0.507													47	217					0	0	0	0	A	117450885	G	A	117450885	2	1	262	1	0	0	0	0	0	0	0	1	4077	1219	43	4		4	CTTNBP2	7	117450885	Silent	SNP	G	TCGA-CV-6951-01A-11D-1912-08	3931018	117450885	41687778	64	46778											
TP53INP1	94241	broad.mit.edu	37	chr8	95944333	95944333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttataagcagcttttcctgGccctacaaatgttaaatggt	11	14	7	9	0	0	0	0	0	0	0	1	0	1	0	2	2	3	3	2	2	6	6			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:95944333G>A	ENST00000448464.2	-	4	838	c.476C>T	c.(475-477)gCc>gTc	p.A159V	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Intron|TP53INP1_ENST00000342697.4_Intron	NM_001135733.1	NP_001129205.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	61					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GCTTTTCCTGGCCCTACAAAT	0.363													4	10					0	0	0	0	A	95944333	G	A	95944333	3	1	262	1	0	0	0	0	1	0	0	0	16483	1203	42	4	276	4	TP53INP1	8	95944333	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08		95944333	50419689	65	46779											
TG	7038	broad.mit.edu	37	chr8	133898695	133898695	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactttgtctcatgcagctGaaggccaatcttgtgcctcc	7	13	8	13	0	3	1	2	1	2	0	5	1	4	1	3	1	3	2	3	1	2	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:133898695G>T	ENST00000220616.4	+	9	1118	c.1078G>T	c.(1078-1080)Gaa>Taa	p.E360*	TG_ENST00000377869.1_Nonsense_Mutation_p.E360*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	360					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCATGCAGCTGAAGGCCAATC	0.493													50	98					3.86236e-30	1.22177e-29	1	0	T	133898695	G	T	133898695	4	4	262	1	0	0	0	0	0	1	0	0	15907	1291	45	2	1112	2	TG	8	133898695	Nonsense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	37954362	133898695	12465327	66	46780											
TIGD5	84948	broad.mit.edu	37	chr8	144681367	144681367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaacagctgtacaagcgcGagctgctgcgactggctgtg	9	8	13	11	3	1	0	1	0	0	0	1	2	1	0	0	1	7	5	0	1	3	1			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:144681367G>A	ENST00000321385.3	+	1	1294	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	TIGD5_ENST00000504548.2_Missense_Mutation_p.E432K			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	432					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GTACAAGCGCGAGCTGCTGCG	0.647													10	28					0	0	0	0	A	144681367	G	A	144681367	3	1	262	1	0	0	0	0	1	0	0	0	15993	1059	37	1	1296	1	TIGD5	8	144681367	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	10782672	144681367	1682655	67	46781											
MAPK15	225689	broad.mit.edu	37	chr8	144801638	144801638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctggagaccatcccacCgccatctgaggagggtgagc	9	6	13	13	1	1	3	0	2	1	1	3	6	3	4	5	3	1	0	5	3	0	0			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:144801638C>T	ENST00000338033.4	+	7	826	c.707C>T	c.(706-708)cCg>cTg	p.P236L	MAPK15_ENST00000395108.2_Missense_Mutation_p.P236L|MAPK15_ENST00000395107.4_Missense_Mutation_p.P253L	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	236	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACCATCCCACCGCCATCTGAG	0.657													26	28					0	0	0	0	T	144801638	C	T	144801638	3	4	262	1	0	0	0	0	1	0	0	0	9346	652	23	1	733	1	MAPK15	8	144801638	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	120271	144801638	1562384	68	46782											
EPPK1	83481	broad.mit.edu	37	chr8	144942354	144942354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcacggggtcgatgaTgccgcccgtggcgatctggg	4	8	18	11	5	1	1	0	1	1	0	2	3	1	1	2	4	2	2	2	4	0	0	rs113992087		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:144942354T>C	ENST00000525985.1	-	2	5139	c.5068A>G	c.(5068-5070)Atc>Gtc	p.I1690V				P58107	EPIPL_HUMAN	epiplakin 1	1690						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTCGATGATGCCGCCCGTG	0.677													14	114					0	0	0	0	C	144942354	T	C	144942354	3	2	262	1	0	0	0	0	1	0	0	0	5228	1464	51	5	2198	5	EPPK1	8	144942354	Missense_Mutation	SNP	T	TCGA-CV-6951-01A-11D-1912-08	140716	144942354	1421668	69	46783											
PLEC	5339	broad.mit.edu	37	chr8	145012852	145012852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggttttcttctgcacacgatCccgctcatctgggggagaca	7	11	11	12	2	4	1	1	0	3	1	5	3	5	1	1	3	1	3	1	3	0	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:145012852C>T	ENST00000322810.4	-	2	701	c.532G>A	c.(532-534)Gat>Aat	p.D178N	PLEC_ENST00000354958.2_Missense_Mutation_p.D19N|PLEC_ENST00000354589.3_Missense_Mutation_p.D41N|PLEC_ENST00000345136.3_Missense_Mutation_p.D41N|PLEC_ENST00000356346.3_Missense_Mutation_p.D27N|PLEC_ENST00000357649.2_Missense_Mutation_p.D45N|PLEC_ENST00000527096.1_Missense_Mutation_p.D68N|PLEC_ENST00000398774.2_Missense_Mutation_p.D9N|PLEC_ENST00000436759.2_Missense_Mutation_p.D68N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	178	Actin-binding.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCACACGATCCCGCTCATCT	0.627													20	67					0	0	0	0	T	145012852	C	T	145012852	3	4	262	1	0	0	0	0	1	0	0	0	12124	855	30	2	13646	2	PLEC	8	145012852	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	70498	145012852	1351170	70	46784											
CPSF1	29894	broad.mit.edu	37	chr8	145624248	145624248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgtcaccacctggggcCggatgctcttctagaatgat	8	11	12	10	1	3	2	1	1	2	1	3	3	3	3	3	4	1	2	3	4	2	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:145624248C>T	ENST00000349769.3	-	17	1653	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	520					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CACCTGGGGCCGGATGCTCTT	0.642													97	85					0	0	0	0	T	145624248	C	T	145624248	3	4	262	1	0	0	0	0	1	0	0	0	3854	652	23	1	2860	1	CPSF1	8	145624248	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	611396	145624248	739774	71	46785											
PSIP1	11168	broad.mit.edu	37	chr9	15472704	15472705	+	Frame_Shift_Ins	INS	-	-	T																															catgttggcctttcagcataINSttccttctgtgagcagtctg																										TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:15472704_15472705insT	ENST00000380733.4	-	10	1245_1246	c.902_903insA	c.(901-903)aatfs	p.N301fs	PSIP1_ENST00000380715.1_Frame_Shift_Ins_p.N301fs|PSIP1_ENST00000380738.4_Frame_Shift_Ins_p.N301fs|PSIP1_ENST00000397519.2_Frame_Shift_Ins_p.N301fs|PSIP1_ENST00000380716.4_Frame_Shift_Ins_p.N301fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	301					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CTTTCAGCATATTCCTTCTGTG	0.361													72	17	---	---	---	---					T	15472705	-	T	15472704	7	5	262	1	0	1	1	0	0	0	0	0	12742	446	16	0	746	0	PSIP1	9	15472704	Frame_Shift_Ins	INS	-	TCGA-CV-6951-01A-11D-1912-08		15472704	125740727	72	46786											
CDKN2A	1029	broad.mit.edu	37	chr9	21970919	21970919	+	Frame_Shift_Del	DEL	C	C	-																															acctgagggaccttccgcggCatctatgcgggcatggttac																										TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:21970919delC	ENST00000304494.5	-	2	709	c.439delG	c.(439-441)ccfs	p.A148fs	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.A148fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.A148fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000579755.1_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	148			A -> T (in dbSNP:rs3731249).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(13)|p.R128fs*12(3)|p.A147T(2)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTTCCGCGGCATCTATGCGG	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			29	10	---	---	---	---					-	21970919	C	-	21970919	7	5	262	1	0	1	0	1	0	0	0	0	3190	710	25	0	39	0	CDKN2A	9	21970919	Frame_Shift_Del	DEL	C	TCGA-CV-6951-01A-11D-1912-08	6498215	21970919	119242512	73	46787											
DNAJA1	3301	broad.mit.edu	37	chr9	33034296	33034296	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcgatattatcattgtGttagatcagaaggaccatgc	12	11	10	8	1	2	2	2	0	0	2	2	4	2	3	2	2	1	1	2	2	4	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:33034296G>T	ENST00000330899.4	+	6	909	c.726G>T	c.(724-726)gtG>gtT	p.V242V	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Silent_p.V85V	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	242					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TTATCATTGTGTTAGATCAGA	0.368													13	26					5.50884e-06	1.54314e-05	1	0	T	33034296	G	T	33034296	2	4	262	1	0	0	0	0	0	0	0	1	4647	1364	48	4		4	DNAJA1	9	33034296	Silent	SNP	G	TCGA-CV-6951-01A-11D-1912-08	11063377	33034296	108179135	74	46788											
PTAR1	375743	broad.mit.edu	37	chr9	72338400	72338400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actagggctggctcacttctCaaaggattttgctccatcac	9	12	8	12	0	3	0	3	0	1	0	5	1	4	1	1	3	1	3	1	3	2	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:72338400C>G	ENST00000377200.5	-	4	554	c.552G>C	c.(550-552)ttG>ttC	p.L184F	PTAR1_ENST00000340434.4_Missense_Mutation_p.L263F			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	263					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GCTCACTTCTCAAAGGATTTT	0.423													19	53					0	0	0	0	G	72338400	C	G	72338400	3	3	262	1	0	0	0	0	1	0	0	0	12803	825	29	2	431	2	PTAR1	9	72338400	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	39304104	72338400	68875031	75	46789											
TRPM3	80036	broad.mit.edu	37	chr9	73167793	73167793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttcatccgggtcgctctCgtgtttcctccatcggcagc	3	13	9	16	4	2	0	1	0	1	0	8	0	5	0	4	2	1	3	4	2	0	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:73167793C>T	ENST00000377110.2	-	23	3748	c.3505G>A	c.(3505-3507)Gag>Aag	p.E1169K	TRPM3_ENST00000377106.1_Missense_Mutation_p.E1041K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1028K|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1169K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1028K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1018K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1031K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1173K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1041K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1031K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1196K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1028K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1194						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGGTCGCTCTCGTGTTTCCTC	0.527													66	170					0	0	0	0	T	73167793	C	T	73167793	3	4	262	1	0	0	0	0	1	0	0	0	16682	893	31	1	1630	1	TRPM3	9	73167793	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	829393	73167793	68045638	76	46790											
PTCH1	5727	broad.mit.edu	37	chr9	98239882	98239882	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgagcacaggcccagtcCtgcagccactgacagtgcaa	12	5	10	14	0	0	2	0	2	0	0	1	2	1	2	3	1	4	3	3	1	2	0			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:98239882C>A	ENST00000430669.2	-	10	1837	c.1252G>T	c.(1252-1254)Gga>Tga	p.G418*	PTCH1_ENST00000421141.1_Nonsense_Mutation_p.G333*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.G483*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.G333*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.G333*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.G418*|PTCH1_ENST00000331920.6_Nonsense_Mutation_p.G484*			Q13635	PTC1_HUMAN	patched 1	484					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.G484R(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGGCCCAGTCCTGCAGCCACT	0.572													45	10					3.54909e-21	1.09293e-20	1	0	A	98239882	C	A	98239882	4	1	262	1	0	0	0	0	0	1	0	0	12809	690	24	4	2949	4	PTCH1	9	98239882	Nonsense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	25072089	98239882	42973549	77	46791											
ALG2	85365	broad.mit.edu	37	chr9	101980370	101980370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttctgagaagtgcaccGggtcaggctcacacagaaac	11	8	11	11	1	3	2	2	1	1	2	3	3	3	2	1	2	3	3	1	2	2	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:101980370G>A	ENST00000476832.1	-	2	1158	c.1097C>T	c.(1096-1098)cCg>cTg	p.P366L	ALG2_ENST00000319033.6_Missense_Mutation_p.P273L	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	366					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	p.P366Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GAAGTGCACCGGGTCAGGCTC	0.502													26	59					0	0	0	0	A	101980370	G	A	101980370	3	1	262	1	0	0	0	0	1	0	0	0	519	1116	39	1	157	1	ALG2	9	101980370	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	3740488	101980370	39233061	78	46792											
SH2D3C	10044	broad.mit.edu	37	chr9	130536273	130536273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccctgggcacctacctttCtgagtgcacgtccctgggag	5	9	12	15	1	1	1	0	1	1	0	2	2	2	2	5	2	2	2	5	2	1	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:130536273C>T	ENST00000314830.8	-	2	624	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	171					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCTACCTTTCTGAGTGCACG	0.522													31	12					0	0	0	0	T	130536273	C	T	130536273	3	4	262	1	0	0	0	0	1	0	0	0	14321	922	32	2	2248	2	SH2D3C	9	130536273	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	28555903	130536273	10677158	79	46793											
PPP2R4	5524	broad.mit.edu	37	chr9	131897100	131897100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagccttcgctgctttcCtctgctgtctctgcaagatt	5	14	9	13	1	2	1	0	0	2	1	5	1	3	1	2	1	4	5	2	1	1	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:131897100C>T	ENST00000337738.1	+	7	859	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	PPP2R4_ENST00000355007.3_Missense_Mutation_p.L121F|PPP2R4_ENST00000393370.2_Missense_Mutation_p.L163F|PPP2R4_ENST00000357197.4_Missense_Mutation_p.L134F|PPP2R4_ENST00000348141.5_Missense_Mutation_p.L169F|PPP2R4_ENST00000358994.4_Missense_Mutation_p.L163F|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000452489.2_Missense_Mutation_p.L198F	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	198					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CGCTGCTTTCCTCTGCTGTCT	0.512													55	14					0	0	0	0	T	131897100	C	T	131897100	3	4	262	1	0	0	0	0	1	0	0	0	12467	681	24	4	618	4	PPP2R4	9	131897100	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	1360827	131897100	9316331	80	46794											
ZNF248	57209	broad.mit.edu	37	chr10	38120569	38120569	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgaaagagctttcacccTtgtgtgaattctctgatgtt	8	17	9	7	0	2	4	1	3	1	1	3	4	2	4	1	0	1	3	1	0	2	5			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:38120569T>C	ENST00000395867.3	-	6	2264	c.1714A>G	c.(1714-1716)Agg>Ggg	p.R572G	ZNF248_ENST00000357328.4_Missense_Mutation_p.R572G|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GCTTTCACCCTTGTGTGAATT	0.423													10	38					0	0	0	0	C	38120569	T	C	38120569	3	2	262	1	0	0	0	0	1	0	0	0	17888	1608	56	5	29	5	ZNF248	10	38120569	Missense_Mutation	SNP	T	TCGA-CV-6951-01A-11D-1912-08		38120569	97414178	81	46795											
ZNF33B	7582	broad.mit.edu	37	chr10	43088343	43088343	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctcccccgtgtgcttTctctcatgtaaaataagtcc	7	15	7	12	1	3	0	1	0	2	0	6	0	4	0	3	1	1	3	3	1	3	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:43088343T>C	ENST00000359467.3	-	5	2169	c.2055A>G	c.(2053-2055)agA>agG	p.R685R	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	685						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CCGTGTGCTTTCTCTCATGTA	0.403													26	62					0	0	0	0	C	43088343	T	C	43088343	2	2	262	1	0	0	0	0	0	0	0	1	17950	1780	62	5		5	ZNF33B	10	43088343	Silent	SNP	T	TCGA-CV-6951-01A-11D-1912-08	4967774	43088343	92446404	82	46796											
SFTPA1	653509	broad.mit.edu	37	chr10	81373011	81373011	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttagacatcaaatcctgcAgacaaggggaggtaagggga	14	7	13	7	0	1	2	1	0	0	2	2	4	2	4	1	5	1	2	1	5	4	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:81373011A>G	ENST00000398636.3	+	5	497	c.359A>G	c.(358-360)cAg>cGg	p.Q120R	SFTPA1_ENST00000428376.2_Missense_Mutation_p.Q120R|SFTPA1_ENST00000372308.3_Missense_Mutation_p.Q120R|SFTPA1_ENST00000419470.2_Missense_Mutation_p.Q135R|SFTPA1_ENST00000372313.5_Missense_Mutation_p.Q61R	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	120					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CAAATCCTGCAGACAAGGGGA	0.547													65	104					0	0	0	0	G	81373011	A	G	81373011	3	3	262	1	0	0	0	0	1	0	0	0	14276	188	7	5	418	5	SFTPA1	10	81373011	Missense_Mutation	SNP	A	TCGA-CV-6951-01A-11D-1912-08	38284668	81373011	54161736	83	46797											
TNKS2	80351	broad.mit.edu	37	chr10	93582061	93582061	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcattgtagtgatctggTaccattacacaatgcctgtt	9	16	7	9	0	2	1	1	1	2	0	3	1	2	1	2	1	3	3	2	1	4	6			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:93582061T>A	ENST00000371627.4	+	7	1116	c.737T>A	c.(736-738)gTa>gAa	p.V246E		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	246					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AGTGATCTGGTACCATTACAC	0.328													46	43					0	0	0	0	A	93582061	T	A	93582061	3	1	262	1	0	0	0	0	1	0	0	0	16415	1638	57	5	763	5	TNKS2	10	93582061	Missense_Mutation	SNP	T	TCGA-CV-6951-01A-11D-1912-08	12209050	93582061	41952686	84	46798											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119799785	119799785	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgctgaggacccaagagAaaaggcttttttggtttgga	11	11	13	6	1	0	2	0	1	0	1	1	5	0	4	1	4	0	3	1	4	3	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:119799785A>G	ENST00000355624.3	-	2	1084	c.645T>C	c.(643-645)ttT>ttC	p.F215F	RP11-354M20.3_ENST00000417968.3_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.F215F|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	215					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GACCCAAGAGAAAAGGCTTTT	0.433													22	67					0	0	0	0	G	119799785	A	G	119799785	2	3	262	1	0	0	0	0	0	0	0	1	12976	243	9	5		5	RAB11FIP2	10	119799785	Silent	SNP	A	TCGA-CV-6951-01A-11D-1912-08	26217724	119799785	15734962	85	46799											
DMBT1	1755	broad.mit.edu	37	chr10	124348656	124348656	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcccggtttggtcagggCtcaggacccattgtcctgga	7	10	13	11	1	2	0	2	0	0	0	3	2	3	2	3	5	1	2	3	5	1	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:124348656C>T	ENST00000338354.3	+	17	2086	c.1980C>T	c.(1978-1980)ggC>ggT	p.G660G	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Silent_p.G650G|DMBT1_ENST00000368955.3_Silent_p.G650G|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Silent_p.G660G			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	660	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGGTCAGGGCTCAGGACCCA	0.602													58	158					0	0	0	0	T	124348656	C	T	124348656	2	4	262	1	0	0	0	0	0	0	0	1	4614	784	28	4		4	DMBT1	10	124348656	Silent	SNP	C	TCGA-CV-6951-01A-11D-1912-08	4548871	124348656	11186091	86	46800											
MUC5B	727897	broad.mit.edu	37	chr11	1263375	1263375	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgagcgagctgtccacCtctcaggccgagaccagcac	9	5	10	17	3	2	1	2	0	1	1	4	4	3	1	4	1	3	2	4	1	0	0			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:1263375C>T	ENST00000447027.1	+	31	5332	c.5274C>T	c.(5272-5274)acC>acT	p.T1758T	MUC5B_ENST00000529681.1_Silent_p.T1755T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1755	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTGTCCACCTCTCAGGCCG	0.642													9	23					0	0	0	0	T	1263375	C	T	1263375	2	4	262	1	0	0	0	0	0	0	0	1	10049	668	24	4		4	MUC5B	11	1263375	Silent	SNP	C	TCGA-CV-6951-01A-11D-1912-08		1263375	133743141	87	46801											
SCUBE2	57758	broad.mit.edu	37	chr11	9080855	9080855	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttcagcacataccttggCaagacttctcatctgttaat	10	15	6	10	0	3	1	2	0	2	1	4	1	3	1	1	1	2	4	1	1	3	6			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:9080855C>G	ENST00000457346.2	-	9	1159	c.1085G>C	c.(1084-1086)tGc>tCc	p.C362S	SCUBE2_ENST00000309263.3_Missense_Mutation_p.C362S|SCUBE2_ENST00000520467.1_Missense_Mutation_p.C362S|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000450649.2_Missense_Mutation_p.C362S			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	362	EGF-like 7; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CATACCTTGGCAAGACTTCTC	0.483													8	38					0	0	0	0	G	9080855	C	G	9080855	3	3	262	1	0	0	0	0	1	0	0	0	14032	710	25	4	2061	4	SCUBE2	11	9080855	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	7817480	9080855	125925661	88	46802											
CHST1	8534	broad.mit.edu	37	chr11	45671418	45671418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcggccgtggccgccgaGtttcgcacggtgccgtattt	3	12	13	13	7	1	0	0	0	1	0	3	1	1	0	4	3	1	3	4	3	1	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:45671418G>C	ENST00000308064.2	-	4	1726	c.1056C>G	c.(1054-1056)aaC>aaG	p.N352K		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	352					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TGGCCGCCGAGTTTCGCACGG	0.672													47	42					0	0	0	0	C	45671418	G	C	45671418	3	2	262	1	0	0	0	0	1	0	0	0	3426	1020	36	4	183	4	CHST1	11	45671418	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	36590563	45671418	89335098	89	46803											
OR8I2	120586	broad.mit.edu	37	chr11	55861217	55861217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaaagtgtccaactggctggGagtaatgccatatgtgatag	13	10	12	6	0	0	1	0	1	0	0	1	2	1	2	2	2	2	2	2	2	6	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:55861217G>C	ENST00000302124.2	+	1	465	c.434G>C	c.(433-435)gGa>gCa	p.G145A	OR8I2_ENST00000560768.1_Missense_Mutation_p.G145A			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AACTGGCTGGGAGTAATGCCA	0.433													45	52					0	0	0	0	C	55861217	G	C	55861217	3	2	262	1	0	0	0	0	1	0	0	0	11311	1174	41	2	436	2	OR8I2	11	55861217	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	10189799	55861217	79145299	90	46804											
EHD1	10938	broad.mit.edu	37	chr11	64622855	64622855	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcgcgctcaatcttcTggtagatctctccgaggttg	5	13	12	11	3	4	1	1	0	3	1	7	2	5	1	1	3	1	4	1	3	2	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:64622855T>C	ENST00000320631.3	-	4	1273	c.1019A>G	c.(1018-1020)cAg>cGg	p.Q340R	EHD1_ENST00000359393.2_Missense_Mutation_p.Q340R	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	340					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTCAATCTTCTGGTAGATCTC	0.557											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	72					0	0	0	0	C	64622855	T	C	64622855	3	2	262	1	0	0	0	0	1	0	0	0	5013	1580	55	5	593	5	EHD1	11	64622855	Missense_Mutation	SNP	T	TCGA-CV-6951-01A-11D-1912-08	8761638	64622855	70383661	91	46805											
P2RY2	5029	broad.mit.edu	37	chr11	72945507	72945507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcggcgaccactggcccttCagcacggtgctctgcaagct	6	7	12	16	4	2	0	1	0	1	0	2	1	2	0	2	3	4	4	2	3	1	1			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:72945507C>T	ENST00000311131.2	+	3	770	c.303C>T	c.(301-303)ttC>ttT	p.F101F	P2RY2_ENST00000393596.2_Silent_p.F101F|P2RY2_ENST00000393597.2_Silent_p.F101F	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	101					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ACTGGCCCTTCAGCACGGTGC	0.597													21	96					0	0	0	0	T	72945507	C	T	72945507	2	4	262	1	0	0	0	0	0	0	0	1	11423	825	29	2		2	P2RY2	11	72945507	Silent	SNP	C	TCGA-CV-6951-01A-11D-1912-08	8322652	72945507	62061009	92	46806											
OR2AT4	341152	broad.mit.edu	37	chr11	74800310	74800310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttagccaggcactggctGccaaggtagcattggtctgt	8	10	13	10	0	1	0	0	0	1	0	1	0	1	0	2	4	3	5	2	4	3	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:74800310G>A	ENST00000305159.3	-	1	489	c.449C>T	c.(448-450)gCa>gTa	p.A150V		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGCACTGGCTGCCAAGGTAGC	0.557													47	57					0	0	0	0	A	74800310	G	A	74800310	3	1	262	1	0	0	0	0	1	0	0	0	11058	1319	46	4	516	4	OR2AT4	11	74800310	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	1854803	74800310	60206206	93	46807											
GAB2	9846	broad.mit.edu	37	chr11	77931466	77931466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgttcgtgccactgggaaCgggagatgcagacactgggt	9	8	15	9	2	0	2	0	0	0	2	1	4	0	3	1	3	3	2	1	3	1	1	rs145573768		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:77931466C>T	ENST00000361507.4	-	9	1871	c.1786G>A	c.(1786-1788)Gtt>Att	p.V596I	GAB2_ENST00000340149.2_Missense_Mutation_p.V558I	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	596					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.V596I(1)	INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CCACTGGGAACGGGAGATGCA	0.562													10	43					0	0	0	0	T	77931466	C	T	77931466	3	4	262	1	0	0	0	0	1	0	0	0	6197	536	19	1	252	1	GAB2	11	77931466	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	3131156	77931466	57075050	94	46808											
TYR	7299	broad.mit.edu	37	chr11	89018057	89018057	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttttataccactgtacaGaaatggtgatttctttattt	10	19	5	7	0	1	2	0	1	1	1	2	2	2	2	2	1	2	1	2	1	5	8			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:89018057G>C	ENST00000263321.5	+	4	1803	c.1301G>C	c.(1300-1302)aGa>aCa	p.R434T		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	434			R -> I (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCACTGTACAGAAATGGTGAT	0.403													17	44					0	0	0	0	C	89018057	G	C	89018057	3	2	262	1	0	0	0	0	1	0	0	0	16909	942	33	2	1315	2	TYR	11	89018057	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	11086591	89018057	45988459	95	46809											
PZP	5858	broad.mit.edu	37	chr12	9307283	9307283	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgttagttgcagaggTcaggtcccctgaggtggggg	8	9	16	8	0	1	2	1	1	0	1	2	2	2	2	2	5	1	3	2	5	2	2	rs140597579	byFrequency	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:9307283T>A	ENST00000261336.2	-	29	3731	c.3703A>T	c.(3703-3705)Acc>Tcc	p.T1235S	PZP_ENST00000381997.2_Missense_Mutation_p.T1021S	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTTGCAGAGGTCAGGTCCCCT	0.557													24	38					0	0	0	0	A	9307283	T	A	9307283	3	1	262	1	0	0	0	0	1	0	0	0	12951	1667	58	5	777	5	PZP	12	9307283	Missense_Mutation	SNP	T	TCGA-CV-6951-01A-11D-1912-08		9307283	124544612	96	46810											
DHH	50846	broad.mit.edu	37	chr12	49488008	49488008	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttacctcggtcatcaggcgGtcggctccactgttctcctc	4	12	9	16	3	3	0	2	0	1	0	8	0	4	0	3	4	1	2	3	4	1	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:49488008G>A	ENST00000266991.2	-	1	594	c.288C>T	c.(286-288)gaC>gaT	p.D96D		NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	96					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						TCATCAGGCGGTCGGCTCCAC	0.642													20	40					0	0	0	0	A	49488008	G	A	49488008	2	1	262	1	0	0	0	0	0	0	0	1	4520	1252	44	4		4	DHH	12	49488008	Silent	SNP	G	TCGA-CV-6951-01A-11D-1912-08	40180725	49488008	84363887	97	46811											
SP7	121340	broad.mit.edu	37	chr12	53722831	53722831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggagccataggggtgtGtcatgtccagagaggtgtag	10	8	16	7	0	1	1	1	0	0	1	2	3	2	2	3	4	1	1	3	4	2	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:53722831G>T	ENST00000536324.2	-	3	678	c.395C>A	c.(394-396)aCa>aAa	p.T132K	SP7_ENST00000537210.2_Missense_Mutation_p.T114K|SP7_ENST00000303846.3_Missense_Mutation_p.T132K	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						ATAGGGGTGTGTCATGTCCAG	0.602													16	40					2.23348e-06	6.29436e-06	1	0	T	53722831	G	T	53722831	3	4	262	1	0	0	0	0	1	0	0	0	15057	1377	48	4	904	4	SP7	12	53722831	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	4234823	53722831	80129064	98	46812											
MON2	23041	broad.mit.edu	37	chr12	62954421	62954421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactcagataagcctgagaCaccacctgtagttaatgtac	14	9	8	10	0	1	3	1	1	0	3	1	4	1	3	3	0	2	3	3	0	4	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:62954421C>T	ENST00000393630.3	+	27	3954	c.3563C>T	c.(3562-3564)aCa>aTa	p.T1188I	MON2_ENST00000280379.6_Missense_Mutation_p.T1188I|MON2_ENST00000552738.1_Missense_Mutation_p.T1164I|MON2_ENST00000393632.2_Missense_Mutation_p.T1187I|MON2_ENST00000393629.2_Missense_Mutation_p.T1187I|MON2_ENST00000546600.1_Missense_Mutation_p.T1187I	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1188					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AAGCCTGAGACACCACCTGTA	0.443													15	32					0	0	0	0	T	62954421	C	T	62954421	3	4	262	1	0	0	0	0	1	0	0	0	9770	478	17	4	3662	4	MON2	12	62954421	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	9231590	62954421	70897474	99	46813											
LRRIQ1	84125	broad.mit.edu	37	chr12	85623415	85623415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaaacgactagttccaGaaatatgaaatggtgaggtc	15	10	10	6	1	1	4	1	3	0	1	3	5	2	4	1	2	1	1	1	2	5	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:85623415G>T	ENST00000393217.2	+	25	5004	c.4943G>T	c.(4942-4944)aGa>aTa	p.R1648I	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1648										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACTAGTTCCAGAAATATGAAA	0.338													9	49					1.58986e-06	4.50785e-06	1	0	T	85623415	G	T	85623415	3	4	262	1	0	0	0	0	1	0	0	0	9093	942	33	2	5041	2	LRRIQ1	12	85623415	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	22668994	85623415	48228480	100	46814											
MYBPC1	4604	broad.mit.edu	37	chr12	102030483	102030483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgcaggagaacttgaCtttagtggtctcctgaaacg	11	10	13	7	1	1	3	0	2	1	1	2	6	1	4	1	3	3	1	1	3	3	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:102030483C>T	ENST00000549145.1	+	9	706	c.606C>T	c.(604-606)gaC>gaT	p.D202D	MYBPC1_ENST00000545503.2_Silent_p.D189D|MYBPC1_ENST00000541119.1_Silent_p.D177D|MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000553190.1_Silent_p.D189D|MYBPC1_ENST00000452455.2_Silent_p.D189D|MYBPC1_ENST00000441232.1_Silent_p.D189D|MYBPC1_ENST00000392934.3_Silent_p.D176D|MYBPC1_ENST00000551300.1_Silent_p.D90D|MYBPC1_ENST00000361685.2_Silent_p.D214D|MYBPC1_ENST00000361466.2_Silent_p.D214D|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.D189D|MYBPC1_ENST00000360610.2_Silent_p.D189D|MYBPC1_ENST00000547509.1_Silent_p.D175D|MYBPC1_ENST00000547405.1_Silent_p.D163D			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	189					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						GAGAACTTGACTTTAGTGGTC	0.428													7	21					0	0	0	0	T	102030483	C	T	102030483	2	4	262	1	0	0	0	0	0	0	0	1	10081	564	20	4		4	MYBPC1	12	102030483	Silent	SNP	C	TCGA-CV-6951-01A-11D-1912-08	16407068	102030483	31821412	101	46815											
TMEM116	89894	broad.mit.edu	37	chr12	112369498	112369498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaagcccctgctatagaatCtcttctgtgagcataataat	12	14	6	9	0	2	2	0	1	2	1	3	2	2	2	2	0	3	2	2	0	6	6			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:112369498C>G	ENST00000354825.3	-	13	1320	c.665G>C	c.(664-666)aGa>aCa	p.R222T	TMEM116_ENST00000552374.2_Missense_Mutation_p.R314T|TMEM116_ENST00000550831.3_Missense_Mutation_p.R222T|TMEM116_ENST00000437003.2_Missense_Mutation_p.R222T|TMEM116_ENST00000549537.2_Missense_Mutation_p.R128T|TMEM116_ENST00000355445.3_Missense_Mutation_p.R279T			Q8NCL8	TM116_HUMAN	transmembrane protein 116	222						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						GCTATAGAATCTCTTCTGTGA	0.453													22	64					0	0	0	0	G	112369498	C	G	112369498	3	3	262	1	0	0	0	0	1	0	0	0	16124	913	32	2	76	2	TMEM116	12	112369498	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	10339015	112369498	21482397	102	46816											
KNTC1	9735	broad.mit.edu	37	chr12	123019279	123019279	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attattgtagccgaccaatcAgtgatattgcttgacagtat	12	14	8	7	1	1	2	1	2	0	0	1	3	1	2	2	0	2	3	2	0	5	7			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:123019279A>G	ENST00000333479.7	+	3	375	c.198A>G	c.(196-198)tcA>tcG	p.S66S	KNTC1_ENST00000450485.2_Silent_p.S66S	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	66					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCGACCAATCAGTGATATTGC	0.353													3	21					0	0	0	0	G	123019279	A	G	123019279	2	3	262	1	0	0	0	0	0	0	0	1	8480	175	7	5		5	KNTC1	12	123019279	Silent	SNP	A	TCGA-CV-6951-01A-11D-1912-08	10649781	123019279	10832616	103	46817											
GRTP1	79774	broad.mit.edu	37	chr13	114009696	114009696	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggagaagctggtggtaGtagccgggattctggtccat	7	10	15	9	1	1	1	0	0	1	1	2	3	2	2	3	5	2	3	3	5	3	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr13:114009696G>C	ENST00000375430.4	-	3	328	c.282C>G	c.(280-282)taC>taG	p.Y94*	GRTP1-AS1_ENST00000419199.1_RNA|GRTP1-AS1_ENST00000423246.1_RNA|GRTP1_ENST00000326039.3_Nonsense_Mutation_p.Y16*|GRTP1_ENST00000375431.4_Nonsense_Mutation_p.Y94*			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	94	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCTGGTGGTAGTAGCCGGGAT	0.672													42	6					0	0	0	0	C	114009696	G	C	114009696	4	2	262	1	0	0	0	0	0	1	0	0	6860	1024	36	4	752	4	GRTP1	13	114009696	Nonsense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08		114009696	1160182	104	46818											
SCFD1	23256	broad.mit.edu	37	chr14	31139469	31139469	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttttcctaggatttccAtttaaacagggttaatttgg	10	18	7	6	0	0	0	0	0	0	0	2	1	2	1	2	3	2	1	2	3	5	9			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr14:31139469A>G	ENST00000458591.2	+	11	1090	c.863A>G	c.(862-864)cAt>cGt	p.H288R	SCFD1_ENST00000544052.2_Missense_Mutation_p.H221R|SCFD1_ENST00000541123.1_Missense_Mutation_p.H103R|SCFD1_ENST00000396629.2_Missense_Mutation_p.H196R|SCFD1_ENST00000421551.3_Missense_Mutation_p.H229R	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	288					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TAGGATTTCCATTTAAACAGG	0.338													72	140					0	0	0	0	G	31139469	A	G	31139469	3	3	262	1	0	0	0	0	1	0	0	0	13975	217	8	5	905	5	SCFD1	14	31139469	Missense_Mutation	SNP	A	TCGA-CV-6951-01A-11D-1912-08		31139469	76210071	105	46819											
SLC8A3	6547	broad.mit.edu	37	chr14	70634091	70634091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatacggtagaaggcacggCtcttctgttggtgggaaaga	10	9	16	6	2	2	2	0	0	2	2	2	4	2	4	0	6	1	4	0	6	4	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr14:70634091C>T	ENST00000381269.2	-	2	1802	c.1049G>A	c.(1048-1050)aGc>aAc	p.S350N	SLC8A3_ENST00000357887.3_Missense_Mutation_p.S350N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S350N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S350N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S350N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	350					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAAGGCACGGCTCTTCTGTTG	0.493													17	66					0	0	0	0	T	70634091	C	T	70634091	3	4	262	1	0	0	0	0	1	0	0	0	14796	797	28	4	1873	4	SLC8A3	14	70634091	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	39494622	70634091	36715449	106	46820											
RIN3	79890	broad.mit.edu	37	chr14	93118236	93118236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggccccacgccgcccacCaccccctcccccagtgctgc	4	4	9	24	2	0	0	0	0	0	0	1	0	1	0	9	1	2	1	9	1	0	0			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr14:93118236C>T	ENST00000216487.7	+	6	1001	c.842C>T	c.(841-843)cCa>cTa	p.P281L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	281	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CGccgcccaccaccccctccc	0.711													25	23					0	0	0	0	T	93118236	C	T	93118236	3	4	262	1	0	0	0	0	1	0	0	0	13458	594	21	4	864	4	RIN3	14	93118236	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	22484145	93118236	14231304	107	46821											
MGA	23269	broad.mit.edu	37	chr15	42054540	42054540	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaacctttgattctttccaGaaaaaaagaccaggccacag	16	8	7	10	0	1	3	0	1	1	2	2	4	2	3	4	1	1	0	4	1	4	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:42054540G>C	ENST00000219905.7	+	22	7905	c.7724G>C	c.(7723-7725)aGa>aCa	p.R2575T	MGA_ENST00000570161.1_Missense_Mutation_p.R2575T|MGA_ENST00000545763.1_Missense_Mutation_p.R2366T|MGA_ENST00000389936.4_Missense_Mutation_p.R2536T|MGA_ENST00000566586.1_Missense_Mutation_p.R2366T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2536						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATTCTTTCCAGAAAAAAAGAC	0.423													9	62					0	0	0	0	C	42054540	G	C	42054540	3	2	262	1	0	0	0	0	1	0	0	0	9609	942	33	2	7806	2	MGA	15	42054540	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08		42054540	60476852	108	46822											
SPTBN5	51332	broad.mit.edu	37	chr15	42166142	42166142	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctggcactgctccacGatgtgttgggcttgggggtg	4	11	16	10	1	0	0	0	0	0	0	2	1	2	0	2	4	2	5	2	4	0	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:42166142G>T	ENST00000320955.6	-	25	5018	c.4791C>A	c.(4789-4791)atC>atA	p.I1597I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1597					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGCTCCACGATGTGTTGGG	0.647													22	24					3.62473e-10	1.08045e-09	1	0	T	42166142	G	T	42166142	2	4	262	1	0	0	0	0	0	0	0	1	15212	1048	37	3		3	SPTBN5	15	42166142	Silent	SNP	G	TCGA-CV-6951-01A-11D-1912-08	111602	42166142	60365250	109	46823											
DMXL2	23312	broad.mit.edu	37	chr15	51773152	51773152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttaattcagtcataaGgatctttaaacaagctctga	13	15	6	7	0	5	1	2	1	3	0	5	2	5	2	0	1	2	2	0	1	5	6			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:51773152G>T	ENST00000251076.5	-	24	6438	c.6151C>A	c.(6151-6153)Ctt>Att	p.L2051I	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.L1415I|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2051I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2051						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCAGTCATAAGGATCTTTAAA	0.363													5	108					0.00116845	0.00315888	1	0	T	51773152	G	T	51773152	3	4	262	1	0	0	0	0	1	0	0	0	4632	1000	35	4	3042	4	DMXL2	15	51773152	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	9607010	51773152	50758240	110	46824											
TMOD2	29767	broad.mit.edu	37	chr15	52058689	52058689	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatacaagaacattgatgaAgatgagcttcttggcaaact	17	10	8	6	0	1	5	0	3	1	2	1	5	1	5	0	1	4	2	0	1	6	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:52058689A>T	ENST00000249700.4	+	2	272	c.51A>T	c.(49-51)gaA>gaT	p.E17D	TMOD2_ENST00000539962.2_5'UTR|TMOD2_ENST00000435126.2_Missense_Mutation_p.E17D	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	17					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		ACATTGATGAAGATGAGCTTC	0.423													20	26					0	0	0	0	T	52058689	A	T	52058689	3	4	262	1	0	0	0	0	1	0	0	0	16328	69	3	5	53	5	TMOD2	15	52058689	Missense_Mutation	SNP	A	TCGA-CV-6951-01A-11D-1912-08	285537	52058689	50472703	111	46825											
MYO5A	4644	broad.mit.edu	37	chr15	52697571	52697571	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtattcggaaaattcccatTtgatgagattcactaattcc	13	14	6	8	1	1	2	1	2	0	1	4	4	3	3	2	1	0	1	2	1	4	7			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:52697571T>A	ENST00000399231.3	-	9	1209	c.966A>T	c.(964-966)caA>caT	p.Q322H	MYO5A_ENST00000399233.2_Missense_Mutation_p.Q322H|MYO5A_ENST00000358212.6_Missense_Mutation_p.Q322H|MYO5A_ENST00000553916.1_Missense_Mutation_p.Q322H|MYO5A_ENST00000356338.6_Missense_Mutation_p.Q322H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	322	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AAATTCCCATTTGATGAGATT	0.363													8	21					0	0	0	0	A	52697571	T	A	52697571	3	1	262	1	0	0	0	0	1	0	0	0	10148	1838	64	5	4733	5	MYO5A	15	52697571	Missense_Mutation	SNP	T	TCGA-CV-6951-01A-11D-1912-08	638882	52697571	49833821	112	46826											
HERC1	8925	broad.mit.edu	37	chr15	64067261	64067261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaatgacatcgttgcaaaGactgagaccaggtcctgaca	14	8	10	9	1	0	5	0	4	0	2	2	6	1	5	2	1	1	2	2	1	2	1			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:64067261G>C	ENST00000443617.2	-	2	649	c.562C>G	c.(562-564)Ctt>Gtt	p.L188V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	188					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCGTTGCAAAGACTGAGACCA	0.418													73	213					0	0	0	0	C	64067261	G	C	64067261	3	2	262	1	0	0	0	0	1	0	0	0	7107	942	33	2	14331	2	HERC1	15	64067261	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	11369690	64067261	38464131	113	46827											
CRABP1	1381	broad.mit.edu	37	chr15	78640277	78640277	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctgcagacgtttggCgccgatgacgtggtctgcac	5	12	12	12	4	3	2	0	1	3	1	4	3	3	2	1	2	2	3	1	2	0	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:78640277C>T	ENST00000299529.6	+	4	477	c.372C>T	c.(370-372)ggC>ggT	p.G124G		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	124					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	AGACGTTTGGCGCCGATGACG	0.478													34	45					0	0	0	0	T	78640277	C	T	78640277	2	4	262	1	0	0	0	0	0	0	0	1	3873	755	27	1		1	CRABP1	15	78640277	Silent	SNP	C	TCGA-CV-6951-01A-11D-1912-08	14573016	78640277	23891115	114	46828											
IQGAP1	8826	broad.mit.edu	37	chr15	90984777	90984777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattaatgaagctattgaccGtagaattccagccgacacat	14	11	7	9	2	0	3	0	2	0	1	1	4	1	3	3	0	2	2	3	0	6	6			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:90984777G>A	ENST00000268182.5	+	8	813	c.689G>A	c.(688-690)cGt>cAt	p.R230H	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	230					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTATTGACCGTAGAATTCCA	0.353													16	45					0	0	0	0	A	90984777	G	A	90984777	3	1	262	1	0	0	0	0	1	0	0	0	7867	1145	40	1	719	1	IQGAP1	15	90984777	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	12344500	90984777	11546615	115	46829											
CREBBP	1387	broad.mit.edu	37	chr16	3778359	3778359	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgaggctgctggaacTggccgtgccccgccatgccc	4	8	13	16	2	0	1	0	1	0	0	1	2	1	2	6	3	4	2	6	3	1	1			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr16:3778359T>A	ENST00000262367.5	-	31	7498	c.6689A>T	c.(6688-6690)cAg>cTg	p.Q2230L	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q2192L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2230					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGCTGGAACTGGCCGTGCCC	0.672			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						9	9					0	0	0	0	A	3778359	T	A	3778359	3	1	262	1	0	0	0	0	1	0	0	0	3891	1580	55	5	643	5	CREBBP	16	3778359	Missense_Mutation	SNP	T	TCGA-CV-6951-01A-11D-1912-08		3778359	86576394	116	46830											
ANKRD11	29123	broad.mit.edu	37	chr16	89351103	89351103	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttggggacagcgcccTccgcgctggacaggaagggg	7	5	17	12	3	0	0	0	0	0	0	1	3	1	3	3	6	1	2	3	6	1	1			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr16:89351103T>G	ENST00000301030.4	-	9	2307	c.1847A>C	c.(1846-1848)gAg>gCg	p.E616A	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E616A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	616						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)		GACAGCGCCCTCCGCGCTGGA	0.537													10	41					0	0	0	0	G	89351103	T	G	89351103	3	3	262	1	0	0	0	0	1	0	0	0	639	1551	54	5	6164	5	ANKRD11	16	89351103	Missense_Mutation	SNP	T	TCGA-CV-6951-01A-11D-1912-08	85572744	89351103	1003650	117	46831											
TP53	7157	broad.mit.edu	37	chr17	7577129	7577129	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcacaaacacgcacctcaAagctgttccgtcccagtaga	13	6	8	14	2	1	1	1	0	0	1	3	1	3	1	3	1	2	5	3	1	3	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:7577129A>C	ENST00000420246.2	-	8	941	c.809T>G	c.(808-810)tTt>tGt	p.F270C	TP53_ENST00000359597.4_Missense_Mutation_p.F270C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.F270C|TP53_ENST00000269305.4_Missense_Mutation_p.F270C|TP53_ENST00000455263.2_Missense_Mutation_p.F270C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	270	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACGCACCTCAAAGCTGTTCCG	0.537		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	15					0	0	0	0	C	7577129	A	C	7577129	3	2	262	1	0	0	0	0	1	0	0	0	16476	14	1	5	477	5	TP53	17	7577129	Missense_Mutation	SNP	A	TCGA-CV-6951-01A-11D-1912-08		7577129	73618081	118	46832											
TP53	7157	broad.mit.edu	37	chr17	7578217	7578217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacactatgtcgaaaaGtgtttctgtcatccaaatac	13	11	5	12	1	2	0	1	0	1	0	4	1	3	0	3	0	1	1	3	0	5	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:7578217G>A	ENST00000420246.2	-	6	764	c.632C>T	c.(631-633)aCt>aTt	p.T211I	TP53_ENST00000359597.4_Missense_Mutation_p.T211I|TP53_ENST00000413465.2_Missense_Mutation_p.T211I|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.T211I|TP53_ENST00000269305.4_Missense_Mutation_p.T211I|TP53_ENST00000455263.2_Missense_Mutation_p.T211I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	211	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.T211I(7)|p.?(5)|p.T211N(4)|p.R209fs*35(2)|p.T211fs*4(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.T211S(1)|p.R209fs*6(1)|p.T211fs*5(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGTCGAAAAGTGTTTCTGTC	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	22					0	0	0	0	A	7578217	G	A	7578217	3	1	262	1	0	0	0	0	1	0	0	0	16476	1029	36	4	662	4	TP53	17	7578217	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	1088	7578217	73616993	119	46833											
TTC19	54902	broad.mit.edu	37	chr17	15902870	15902870	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgccgccgccatctcgctCaggagctcctccacaaccgc	7	5	8	21	5	2	0	1	0	1	0	5	1	4	1	7	1	2	2	7	1	1	0			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:15902870C>G	ENST00000486880.2	+	1	89	c.71C>G	c.(70-72)tCa>tGa	p.S24*	ZSWIM7_ENST00000472495.1_Silent_p.L13L|TTC19_ENST00000261647.5_5'UTR|ZSWIM7_ENST00000486655.1_5'UTR|ZSWIM7_ENST00000399280.2_Intron|ZSWIM7_ENST00000399277.1_Silent_p.L13L			Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	0					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCATCTCGCTCAGGAGCTCCT	0.746													3	12					0	0	0	0	G	15902870	C	G	15902870	4	3	262	1	0	0	0	0	0	1	0	0	16782	838	29	2	73	2	TTC19	17	15902870	Nonsense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	8324653	15902870	65292340	120	46834											
TOP3A	7156	broad.mit.edu	37	chr17	18178288	18178288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccaggacggggctccaGaagtccctgtcgggagagtc	7	7	15	12	2	0	2	0	0	0	2	5	4	3	3	3	4	0	1	3	4	1	0			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:18178288G>T	ENST00000321105.5	-	19	3048	c.2834C>A	c.(2833-2835)tCt>tAt	p.S945Y	TOP3A_ENST00000542570.1_Missense_Mutation_p.S850Y|TOP3A_ENST00000540524.1_Missense_Mutation_p.S475Y	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	945					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CGGGGCTCCAGAAGTCCCTGT	0.592													26	56					4.7796e-09	1.40666e-08	1	0	T	18178288	G	T	18178288	3	4	262	1	0	0	0	0	1	0	0	0	16462	942	33	2	175	2	TOP3A	17	18178288	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	2275418	18178288	63016922	121	46835											
CACNB1	782	broad.mit.edu	37	chr17	37343809	37343809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacctcatcccctggagacgGattgtagccaacatttgtcc	9	10	8	14	1	1	1	1	0	0	1	3	3	3	2	5	2	2	1	5	2	2	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:37343809G>T	ENST00000394303.3	-	4	544	c.337C>A	c.(337-339)Ccg>Acg	p.P113T	CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Missense_Mutation_p.P113T|CACNB1_ENST00000344140.5_Missense_Mutation_p.P113T	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	113	SH3.				axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CCTGGAGACGGATTGTAGCCA	0.562													53	71					2.17126e-26	6.82186e-26	1	0	T	37343809	G	T	37343809	3	4	262	1	0	0	0	0	1	0	0	0	2577	1174	41	2	1767	2	CACNB1	17	37343809	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	19165521	37343809	43851401	122	46836											
CDK12	51755	broad.mit.edu	37	chr17	37657685	37657685	+	Frame_Shift_Del	DEL	A	A	-																															agtgttctaacattttgctgAataacaggtaacatagtaac																										TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:37657685delA	ENST00000447079.4	+	6	2635	c.2602delA	c.(2602-2604)atfs	p.N869fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.N869fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	869	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CATTTTGCTGAATAACAGGTA	0.333			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			13	29	---	---	---	---					-	37657685	A	-	37657685	7	5	262	1	0	1	0	1	0	0	0	0	3157	246	9	0	2624	0	CDK12	17	37657685	Frame_Shift_Del	DEL	A	TCGA-CV-6951-01A-11D-1912-08	313876	37657685	43537525	123	46837											
KRT27	342574	broad.mit.edu	37	chr17	38933792	38933792	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccatctatcaggaggcAgtaggtctcaatttcttttt	8	17	7	9	0	5	0	2	0	4	0	7	1	5	1	1	3	0	2	1	3	3	6			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:38933792A>T	ENST00000301656.3	-	6	1205	c.1165T>A	c.(1165-1167)Tgc>Agc	p.C389S	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	389	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ATCAGGAGGCAGTAGGTCTCA	0.443													23	105					0	0	0	0	T	38933792	A	T	38933792	3	4	262	1	0	0	0	0	1	0	0	0	8516	188	7	5	226	5	KRT27	17	38933792	Missense_Mutation	SNP	A	TCGA-CV-6951-01A-11D-1912-08	1276107	38933792	42261418	124	46838											
TUBD1	51174	broad.mit.edu	37	chr17	57951959	57951959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcttgaggaggccagccCaagtaaatgtggtgtatgcc	11	9	13	8	0	0	1	0	1	0	0	0	2	0	2	3	3	3	3	3	3	5	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:57951959C>A	ENST00000325752.3	-	6	1152	c.875G>T	c.(874-876)tGg>tTg	p.W292L	TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000539018.1_Missense_Mutation_p.W76L|TUBD1_ENST00000394239.3_Missense_Mutation_p.W292L|TUBD1_ENST00000592426.1_Missense_Mutation_p.W292L|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000346141.6_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	292					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GAGGCCAGCCCAAGTAAATGT	0.418													7	244					0.00198382	0.00530158	1	0	A	57951959	C	A	57951959	3	1	262	1	0	0	0	0	1	0	0	0	16858	595	21	4	502	4	TUBD1	17	57951959	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	19018167	57951959	23243251	125	46839											
ITGB4	3691	broad.mit.edu	37	chr17	73749930	73749930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccccggagctcatccCgcgcctgtcggccagcagcg	4	5	13	19	5	1	0	1	0	0	0	3	1	2	1	5	2	4	3	5	2	0	0			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:73749930C>T	ENST00000200181.3	+	33	4380	c.4193C>T	c.(4192-4194)cCg>cTg	p.P1398L	ITGB4_ENST00000449880.2_Intron|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Intron|ITGB4_ENST00000579662.1_Intron|ITGB4_ENST00000339591.3_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1398					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCTCATCCCGCGCCTGTCG	0.776													7	7					0	0	0	0	T	73749930	C	T	73749930	3	4	262	1	0	0	0	0	1	0	0	0	7950	652	23	1	4319	1	ITGB4	17	73749930	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	15797971	73749930	7445280	126	46840											
ENGASE	64772	broad.mit.edu	37	chr17	77073809	77073809	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtcttcgctggaggagctCttggcgtggaagccccgctt	4	12	14	11	3	2	0	0	0	2	0	3	3	2	3	2	4	2	3	2	4	1	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:77073809C>G	ENST00000579016.1	+	3	279	c.279C>G	c.(277-279)ctC>ctG	p.L93L	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	93						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	p.A95_L100delAWKPRL(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGGAGGAGCTCTTGGCGTGGA	0.547													56	65					0	0	0	0	G	77073809	C	G	77073809	2	3	262	1	0	0	0	0	0	0	0	1	5156	900	32	2		2	ENGASE	17	77073809	Silent	SNP	C	TCGA-CV-6951-01A-11D-1912-08	3323879	77073809	4121401	127	46841											
C18orf8	29919	broad.mit.edu	37	chr18	21111620	21111620	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaacatgttgcttttttCaaacagatttttggagacca	13	14	8	6	0	1	3	1	0	0	3	1	5	1	3	1	1	3	2	1	1	3	6			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr18:21111620C>G	ENST00000269221.3	+	20	2036	c.1926C>G	c.(1924-1926)ttC>ttG	p.F642L	C18orf8_ENST00000591367.1_3'UTR|NPC1_ENST00000269228.5_3'UTR|C18orf8_ENST00000590868.1_Missense_Mutation_p.F594L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	642										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTGCTTTTTTCAAACAGATTT	0.348													24	76					0	0	0	0	G	21111620	C	G	21111620	3	3	262	1	0	0	0	0	1	0	0	0	1925	825	29	2	2004	2	C18orf8	18	21111620	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08		21111620	56965628	128	46842											
HAUS1	115106	broad.mit.edu	37	chr18	43698200	43698200	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttttcccccgccaatCtctctagcactggttccagg	7	13	7	14	1	2	1	0	1	2	0	5	1	4	1	4	2	1	2	4	2	3	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr18:43698200C>A	ENST00000282058.6	+	3	339	c.259C>A	c.(259-261)Ctc>Atc	p.L87I	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	87					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CCCCGCCAATCTCTCTAGCAC	0.418													17	77					8.34094e-07	2.37947e-06	1	0	A	43698200	C	A	43698200	3	1	262	1	0	0	0	0	1	0	0	0	7015	913	32	2	269	2	HAUS1	18	43698200	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	22586580	43698200	34379048	129	46843											
CDH7	1005	broad.mit.edu	37	chr18	63547973	63547973	+	Frame_Shift_Del	DEL	C	C	-																															tgactccctgcagacatatgCttttgaaggaaatggctcag																										TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr18:63547973delC	ENST00000397968.2	+	12	2627	c.2201delC	c.(2200-2202)gtfs	p.A734fs	CDH7_ENST00000323011.3_Frame_Shift_Del_p.A734fs	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	734					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGACATATGCTTTTGAAGGA	0.423													21	102	---	---	---	---					-	63547973	C	-	63547973	7	5	262	1	0	1	0	1	0	0	0	0	3144	797	28	0	2243	0	CDH7	18	63547973	Frame_Shift_Del	DEL	C	TCGA-CV-6951-01A-11D-1912-08	19849773	63547973	14529275	130	46844											
AP3D1	8943	broad.mit.edu	37	chr19	2110868	2110868	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacagtgacctggctgtcctCctgcagactgccccggatgt	6	9	11	15	1	0	2	0	1	0	1	2	3	2	3	5	2	2	2	5	2	0	0			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:2110868C>G	ENST00000355272.6	-	27	3219	c.3013G>C	c.(3013-3015)Gag>Cag	p.E1005Q	AP3D1_ENST00000345016.5_Missense_Mutation_p.E943Q|AP3D1_ENST00000350812.6_Missense_Mutation_p.E774Q|AP3D1_ENST00000356926.4_Missense_Mutation_p.E902Q	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	943					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TGGCTGTCCTCCTGCAGACTG	0.622													5	29					0	0	0	0	G	2110868	C	G	2110868	3	3	262	1	0	0	0	0	1	0	0	0	747	864	30	2	658	2	AP3D1	19	2110868	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08		2110868	57018115	131	46845											
CALR	811	broad.mit.edu	37	chr19	13054605	13054607	+	In_Frame_Del	DEL	GAG	GAG	-																															aagaagacaagaaacgcaaaGaggaggaggaggcagaggac																										TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr19:13054605_13054607delGAG	ENST00000316448.5	+	9	1205_1207	c.1132_1134delGAG	c.(1132-1134)del	p.E381del		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	381	Asp/Glu/Lys-rich.|C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAACGCAAAgaggaggaggagg	0.537													4	7	---	---	---	---					-	13054607	GAG	-	13054605	7	5	262	1	0	1	0	1	0	0	0	0	2617	943	33	0	1166	0	CALR	19	13054605	In_Frame_Del	DEL	GAG	TCGA-CV-6951-01A-11D-1912-08	10943737	13054605	46074378	132	46846											
HSH2D	84941	broad.mit.edu	37	chr19	16268177	16268177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggagcctcaaaatgctccCcgagagaggccagagggtcc	11	4	14	12	1	1	2	1	0	0	2	3	6	3	3	5	3	2	1	5	3	2	0			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:16268177C>T	ENST00000593154.2	+	8	1163	c.632C>T	c.(631-633)cCc>cTc	p.P211L	HSH2D_ENST00000397372.4_Missense_Mutation_p.P122L|HSH2D_ENST00000253680.6_Missense_Mutation_p.P211L|HSH2D_ENST00000588246.1_Missense_Mutation_p.P211L	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	211						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						AAAATGCTCCCCGAGAGAGGC	0.562													19	34					0	0	0	0	T	16268177	C	T	16268177	3	4	262	1	0	0	0	0	1	0	0	0	7452	623	22	4	650	4	HSH2D	19	16268177	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	3213572	16268177	42860806	133	46847											
RYR1	6261	broad.mit.edu	37	chr19	38943488	38943488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcttcagcgggaagccacGgggctcggggccacccgctg	6	4	16	15	4	1	0	1	0	0	0	2	1	1	1	3	5	3	3	3	5	1	1			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:38943488G>A	ENST00000355481.4	+	13	1405	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q	RYR1_ENST00000360985.3_Missense_Mutation_p.R425Q|RYR1_ENST00000359596.3_Missense_Mutation_p.R425Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	425					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGAAGCCACGGGGCTCGGGG	0.662													5	15					0	0	0	0	A	38943488	G	A	38943488	3	1	262	1	0	0	0	0	1	0	0	0	13853	1116	39	1	1324	1	RYR1	19	38943488	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	22675311	38943488	20185495	134	46848											
GRIN2D	2906	broad.mit.edu	37	chr19	48917263	48917263	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaggtacttcatgaacatCacgtgggataaccgggatta	12	9	12	8	2	2	1	2	1	0	0	2	3	2	3	1	4	3	2	1	4	4	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:48917263C>T	ENST00000263269.3	+	4	1189	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	367						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TCATGAACATCACGTGGGATA	0.587													8	47					0	0	0	0	T	48917263	C	T	48917263	2	4	262	1	0	0	0	0	0	0	0	1	6832	816	29	2		2	GRIN2D	19	48917263	Silent	SNP	C	TCGA-CV-6951-01A-11D-1912-08	9973775	48917263	10211720	135	46849											
ZNF347	84671	broad.mit.edu	37	chr19	53644215	53644215	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattatacttgtaaggtttCtctccagtatgaattcgctg	9	17	7	8	1	2	1	1	1	1	0	5	1	3	1	1	1	1	4	1	1	5	7			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:53644215C>A	ENST00000452676.2	-	5	2295	c.1869G>T	c.(1867-1869)gaG>gaT	p.E623D	ZNF347_ENST00000334197.7_Missense_Mutation_p.E622D|ZNF347_ENST00000601469.2_Missense_Mutation_p.E623D|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	622					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTAAGGTTTCTCTCCAGTAT	0.368													40	43					2.19962e-31	7.00565e-31	1	0	A	53644215	C	A	53644215	3	1	262	1	0	0	0	0	1	0	0	0	17956	912	32	2	657	2	ZNF347	19	53644215	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	4726952	53644215	5484768	136	46850											
ZNF524	147807	broad.mit.edu	37	chr19	56114117	56114117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttacagaggccaacacgctCcggcgccatgcgaagcgcaa	11	5	11	14	5	0	1	0	0	0	1	1	2	1	1	3	2	4	2	3	2	4	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:56114117C>T	ENST00000591046.1	+	1	873	c.639C>T	c.(637-639)ctC>ctT	p.L213L	ZNF524_ENST00000301073.3_Silent_p.L213L			Q96C55	ZN524_HUMAN	zinc finger protein 524	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCAACACGCTCCGGCGCCATG	0.711													18	9					0	0	0	0	T	56114117	C	T	56114117	2	4	262	1	0	0	0	0	0	0	0	1	18061	842	30	2		2	ZNF524	19	56114117	Silent	SNP	C	TCGA-CV-6951-01A-11D-1912-08	2469902	56114117	3014866	137	46851											
ZNF530	348327	broad.mit.edu	37	chr19	58118331	58118331	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgcaaaactgacctcattCgacaccagacagttcacact	13	9	6	13	1	2	2	2	1	0	1	3	3	2	2	2	0	2	3	2	0	2	3			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:58118331C>T	ENST00000332854.6	+	3	1658	c.1438C>T	c.(1438-1440)Cga>Tga	p.R480*	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGACCTCATTCGACACCAGAC	0.433													29	28					0	0	0	0	T	58118331	C	T	58118331	4	4	262	1	0	0	0	0	0	1	0	0	18066	876	31	1	1448	1	ZNF530	19	58118331	Nonsense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08	2004214	58118331	1010652	138	46852											
HSPA12B	116835	broad.mit.edu	37	chr20	3726199	3726199	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagacgatgcccgccctggaGgtgttcgcccatgccctgcg	6	7	13	15	4	0	1	0	0	0	1	1	3	0	2	4	2	3	1	4	2	1	1			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr20:3726199G>A	ENST00000254963.2	+	6	658	c.513G>A	c.(511-513)gaG>gaA	p.E171E	HSPA12B_ENST00000542646.1_Silent_p.E5E	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	171							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCGCCCTGGAGGTGTTCGCCC	0.637													12	51					0	0	0	0	A	3726199	G	A	3726199	2	1	262	1	0	0	0	0	0	0	0	1	7457	991	35	4		4	HSPA12B	20	3726199	Silent	SNP	G	TCGA-CV-6951-01A-11D-1912-08		3726199	59299321	139	46853											
CBFA2T2	9139	broad.mit.edu	37	chr20	32217677	32217677	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacggggaccgagttggtCtccaggcagcacagccctgg	10	5	14	12	2	1	0	0	0	1	0	2	2	1	1	3	5	3	3	3	5	2	1			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr20:32217677C>T	ENST00000346541.3	+	9	1749	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	CBFA2T2_ENST00000359606.3_Silent_p.V414V|CBFA2T2_ENST00000397800.1_Silent_p.V375V|CBFA2T2_ENST00000342704.5_Silent_p.V395V|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000375279.2_Silent_p.V404V	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	404						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CCGAGTTGGTCTCCAGGCAGC	0.507													22	27					0	0	0	0	T	32217677	C	T	32217677	2	4	262	1	0	0	0	0	0	0	0	1	2722	900	32	2		2	CBFA2T2	20	32217677	Silent	SNP	C	TCGA-CV-6951-01A-11D-1912-08	28491478	32217677	30807843	140	46854											
PTPRT	11122	broad.mit.edu	37	chr20	40757407	40757407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactcacgtcaatgtagttgGcattgatgtagtcagagtgc	10	12	11	8	1	3	2	3	1	0	1	3	2	3	2	0	1	1	4	0	1	3	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr20:40757407G>A	ENST00000373198.3	-	20	3135	c.2900C>T	c.(2899-2901)gCc>gTc	p.A967V	PTPRT_ENST00000373187.1_Missense_Mutation_p.A945V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A944V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A948V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A935V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A935V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A954V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	945	Tyrosine-protein phosphatase 1.				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)				AATGTAGTTGGCATTGATGTA	0.542													6	64					0	0	0	0	A	40757407	G	A	40757407	3	1	262	1	0	0	0	0	1	0	0	0	12894	1203	42	4	1543	4	PTPRT	20	40757407	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	8539730	40757407	22268113	141	46855											
MYH9	4627	broad.mit.edu	37	chr22	36712573	36712573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggctcacatcaaagatctCgaagccggcaatgtccagga	14	6	10	11	2	3	1	2	0	1	1	5	3	4	2	2	3	1	2	2	3	4	0			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr22:36712573C>T	ENST00000216181.5	-	12	1599	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	457	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.E457K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCAAAGATCTCGAAGCCGGCA	0.572			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				34	86					0	0	0	0	T	36712573	C	T	36712573	3	4	262	1	0	0	0	0	1	0	0	0	10112	893	31	1	4633	1	MYH9	22	36712573	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08		36712573	14591993	142	46856											
SLC35A2	7355	broad.mit.edu	37	chrX	48762651	48762651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcctggacaatggcgaCgccagtgaagaggagcagca	11	5	15	10	2	0	2	0	1	0	1	0	5	0	4	2	3	3	2	2	3	2	0			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chrX:48762651C>T	ENST00000376521.1	-	4	856	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	SLC35A2_ENST00000452555.2_Missense_Mutation_p.V207I|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000247138.5_Missense_Mutation_p.V179I|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000413561.2_Missense_Mutation_p.V118I|SLC35A2_ENST00000376529.3_Intron	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	179					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						ACAATGGCGACGCCAGTGAAG	0.657													7	4					0	0	0	0	T	48762651	C	T	48762651	3	4	262	1	0	0	0	0	1	0	0	0	14659	536	19	1	819	1	SLC35A2	23	48762651	Missense_Mutation	SNP	C	TCGA-CV-6951-01A-11D-1912-08		48762651	106507909	143	46857											
TAF1	6872	broad.mit.edu	37	chrX	70618519	70618519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcggcttaagaggaaccagGaaaaggagaagcttaagggt	15	5	16	5	1	0	2	0	0	0	2	0	5	0	4	1	6	2	2	1	6	6	2			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chrX:70618519G>C	ENST00000449580.1	+	24	3766	c.3715G>C	c.(3715-3717)Gaa>Caa	p.E1239Q	TAF1_ENST00000423759.1_Missense_Mutation_p.E1260Q|TAF1_ENST00000373790.4_Missense_Mutation_p.E1239Q|TAF1_ENST00000276072.3_Missense_Mutation_p.E1260Q			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1239					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAGGAACCAGGAAAAGGAGAA	0.458													19	2					0	0	0	0	C	70618519	G	C	70618519	3	2	262	1	0	0	0	0	1	0	0	0	15604	1175	41	2	3872	2	TAF1	23	70618519	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	21855868	70618519	84652041	144	46858											
MAGEC3	139081	broad.mit.edu	37	chrX	140985505	140985505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccatcctggtacatggatGctttgaaagatatggaagac	12	12	10	7	0	0	3	0	1	0	2	2	5	2	5	2	3	2	2	2	3	4	4			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chrX:140985505G>T	ENST00000298296.1	+	8	1819	c.1819G>T	c.(1819-1821)Gct>Tct	p.A607S	MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000409007.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	607	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GTACATGGATGCTTTGAAAGA	0.488													46	15					8.01111e-26	2.50011e-25	1	0	T	140985505	G	T	140985505	3	4	262	1	0	0	0	0	1	0	0	0	9251	1319	46	4	2216	4	MAGEC3	23	140985505	Missense_Mutation	SNP	G	TCGA-CV-6951-01A-11D-1912-08	70366986	140985505	14285055	145	46859											
RNF220	55182	broad.mit.edu	37	chr1	44878151	44878151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggccctttgcctccaccgagGaccgggagagctatcagtca	8	7	12	14	2	2	1	2	0	0	1	3	4	3	2	5	3	2	1	5	3	1	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:44878151G>A	ENST00000355387.2	+	2	832	c.382G>A	c.(382-384)Gac>Aac	p.D128N	RNF220_ENST00000372247.2_Missense_Mutation_p.D128N|RNF220_ENST00000361799.2_Missense_Mutation_p.D128N			Q5VTB9	RN220_HUMAN	ring finger protein 220	128					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTCCACCGAGGACCGGGAGAG	0.552													25	95					0	0	0	0	A	44878151	G	A	44878151	3	1	263	1	0	0	0	0	1	0	0	0	13568	1174	41	2	384	2	RNF220	1	44878151	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08		44878151	204372470	1	46860											
HOOK1	51361	broad.mit.edu	37	chr1	60309235	60309235	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaagtattttcatgcacaAttacaactagaacaattaca	20	11	3	7	0	1	1	1	0	0	1	1	1	1	1	0	0	5	2	0	0	10	6			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:60309235A>G	ENST00000371208.3	+	9	1010	c.753A>G	c.(751-753)caA>caG	p.Q251Q	HOOK1_ENST00000395561.2_Silent_p.Q209Q|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	251	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTCATGCACAATTACAACTAG	0.333													14	31					0	0	0	0	G	60309235	A	G	60309235	2	3	263	1	0	0	0	0	0	0	0	1	7332	98	4	5		5	HOOK1	1	60309235	Silent	SNP	A	TCGA-CV-6952-01A-11D-1912-08	15431084	60309235	188941386	2	46861											
WDR63	126820	broad.mit.edu	37	chr1	85547058	85547058	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggacctgcgcaacagagCtgcagtatctgatttccacc	10	9	10	12	1	1	3	0	2	1	1	2	4	2	4	3	1	4	4	3	1	2	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:85547058C>A	ENST00000294664.6	+	4	425	c.245C>A	c.(244-246)gCt>gAt	p.A82D	WDR63_ENST00000326813.8_Missense_Mutation_p.A82D|WDR63_ENST00000370596.1_Missense_Mutation_p.A82D	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	82								p.A82D(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CGCAACAGAGCTGCAGTATCT	0.368													13	50					0.000308642	0.00035368	1	0	A	85547058	C	A	85547058	3	1	263	1	0	0	0	0	1	0	0	0	17410	797	28	4	255	4	WDR63	1	85547058	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	25237823	85547058	163703563	3	46862											
SASS6	163786	broad.mit.edu	37	chr1	100591488	100591488	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagttcaatgctcattcttaTacttactctcctgtaggaaa	11	16	5	9	0	4	0	2	0	2	0	5	1	4	1	1	1	3	3	1	1	7	7			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:100591488T>C	ENST00000287482.5	-	2	216	c.76A>G	c.(76-78)Ata>Gta	p.I26V	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	26					centriole replication	centriole		p.I26V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CTCATTCTTATACTTACTCTC	0.333													22	58					0	0	0	0	C	100591488	T	C	100591488	3	2	263	1	0	0	0	0	1	0	0	0	13936	1406	49	5	1961	5	SASS6	1	100591488	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	15044430	100591488	148659133	4	46863											
VAV3	10451	broad.mit.edu	37	chr1	108116684	108116684	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccctgccatttacttcTcctctccaccagccatttgc	6	14	3	18	0	2	0	0	0	2	0	4	0	2	0	6	0	5	0	6	0	2	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:108116684T>A	ENST00000370056.4	-	26	2761	c.2487A>T	c.(2485-2487)ggA>ggT	p.G829G	VAV3_ENST00000544443.1_Silent_p.G233G|VAV3_ENST00000415432.2_Silent_p.G269G|VAV3_ENST00000527011.1_Silent_p.G857G|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	829	SH3 2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CATTTACTTCTCCTCTCCACC	0.483													47	209					0	0	0	0	A	108116684	T	A	108116684	2	1	263	1	0	0	0	0	0	0	0	1	17229	1538	54	5		5	VAV3	1	108116684	Silent	SNP	T	TCGA-CV-6952-01A-11D-1912-08	7525196	108116684	141133937	5	46864											
LRIG2	9860	broad.mit.edu	37	chr1	113657294	113657294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaacacccttgggacagaaCgtggccacatttacctaaat	13	9	7	12	1	0	1	0	0	0	1	0	2	0	2	3	2	3	0	3	2	5	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:113657294C>T	ENST00000361127.4	+	15	2524	c.2326C>T	c.(2326-2328)Cgt>Tgt	p.R776C	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	776	Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGGGACAGAACGTGGCCACAT	0.463													25	104					0	0	0	0	T	113657294	C	T	113657294	3	4	263	1	0	0	0	0	1	0	0	0	9009	536	19	1	2384	1	LRIG2	1	113657294	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	5540610	113657294	135593327	6	46865											
HIPK1	204851	broad.mit.edu	37	chr1	114499830	114499830	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcagatcaagagtcccttCactacacatgttgccccaaa	13	9	6	13	0	3	2	3	0	0	2	4	2	4	2	3	0	2	1	3	0	3	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:114499830C>T	ENST00000369558.1	+	7	1909	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000406344.1_Silent_p.F165F|HIPK1_ENST00000369559.4_Silent_p.F559F|HIPK1_ENST00000369555.2_Silent_p.F559F|HIPK1_ENST00000369554.2_Silent_p.F559F|HIPK1_ENST00000340480.4_Silent_p.F185F|HIPK1_ENST00000369553.1_Silent_p.F165F|HIPK1_ENST00000426820.2_Silent_p.F559F			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGTCCCTTCACTACACATG	0.393													12	43					0	0	0	0	T	114499830	C	T	114499830	2	4	263	1	0	0	0	0	0	0	0	1	7166	825	29	2		2	HIPK1	1	114499830	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	842536	114499830	134750791	7	46866											
IGSF3	3321	broad.mit.edu	37	chr1	117158883	117158883	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggtgtagatggcataGgggaaggaagagtccatggt	10	8	18	5	1	0	2	0	0	0	2	1	4	1	4	1	6	0	3	1	6	4	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:117158883G>A	ENST00000369486.3	-	3	1005	c.240C>T	c.(238-240)ccC>ccT	p.P80P	IGSF3_ENST00000369483.1_Silent_p.P80P|IGSF3_ENST00000318837.6_Silent_p.P80P	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	80	Ig-like C2-type 1.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGATGGCATAGGGGAAGGAAG	0.557													6	41					0	0	0	0	A	117158883	G	A	117158883	2	1	263	1	0	0	0	0	0	0	0	1	7654	987	35	4		4	IGSF3	1	117158883	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08	2659053	117158883	132091738	8	46867											
CHD1L	9557	broad.mit.edu	37	chr1	146739091	146739091	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttaaatttcagatgcatTtgaaaatgagacggcaaaga	16	13	8	4	1	1	4	1	2	0	3	1	5	1	4	0	1	1	2	0	1	5	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:146739091T>G	ENST00000369258.4	+	9	922	c.902T>G	c.(901-903)tTt>tGt	p.F301C	CHD1L_ENST00000361293.5_Missense_Mutation_p.F20C|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.F97C|CHD1L_ENST00000431239.1_Missense_Mutation_p.F301C	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	301					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.F301C(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TCAGATGCATTTGAAAATGAG	0.368													9	28					0	0	0	0	G	146739091	T	G	146739091	3	3	263	1	0	0	0	0	1	0	0	0	3353	1841	64	5	936	5	CHD1L	1	146739091	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	29580208	146739091	102511530	9	46868											
HRNR	388697	broad.mit.edu	37	chr1	152188024	152188024	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctccatgttggccacagctCgatgactgtcctgatgcaga	8	10	11	12	1	0	3	0	2	0	1	3	4	2	3	3	1	2	4	3	1	0	1	rs142170860		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr1:152188024C>T	ENST00000368801.2	-	3	6156	c.6081G>A	c.(6079-6081)tcG>tcA	p.S2027S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2027					keratinization		calcium ion binding|protein binding	p.S2027S(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.562													119	901					0	0	0	0	T	152188024	C	T	152188024	2	4	263	1	0	0	0	0	0	0	0	1	7409	871	31	1		1	HRNR	1	152188024	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	5448933	152188024	97062597	10	46869											
APCS	325	broad.mit.edu	37	chr1	159558171	159558171	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctccagtgcacatctgtgtGagctgggagtcctcatcagg	7	10	13	11	0	3	1	2	1	1	0	5	2	5	2	2	2	2	3	2	2	0	0			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:159558171G>C	ENST00000255040.2	+	2	442	c.345G>C	c.(343-345)gtG>gtC	p.V115V		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	115	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACATCTGTGTGAGCTGGGAGT	0.433													12	55					0	0	0	0	C	159558171	G	C	159558171	2	2	263	1	0	0	0	0	0	0	0	1	768	1277	45	2		2	APCS	1	159558171	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08	7370147	159558171	89692450	11	46870											
ITLN1	55600	broad.mit.edu	37	chr1	160850996	160850996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaggaagccagtgtccGtgcggtacctcagcagggag	8	7	16	10	2	2	0	1	0	1	0	3	3	3	3	3	4	4	2	3	4	2	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:160850996G>T	ENST00000326245.3	-	5	627	c.512C>A	c.(511-513)aCg>aAg	p.T171K	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	171	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	p.T171K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCCAGTGTCCGTGCGGTACCT	0.562													30	92					1.30897e-18	1.59587e-18	1	0	T	160850996	G	T	160850996	3	4	263	1	0	0	0	0	1	0	0	0	7963	1145	40	3	445	3	ITLN1	1	160850996	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	1292825	160850996	88399625	12	46871											
NUF2	83540	broad.mit.edu	37	chr1	163325191	163325191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtattgaaaaggcagcagagGactcctatgctaagatagat	15	9	11	6	0	0	4	0	1	0	3	1	5	1	5	1	2	2	4	1	2	6	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:163325191G>T	ENST00000271452.3	+	14	1606	c.1327G>T	c.(1327-1329)Gac>Tac	p.D443Y	NUF2_ENST00000367900.3_Missense_Mutation_p.D443Y|NUF2_ENST00000524800.1_Missense_Mutation_p.D396Y	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	443	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GGCAGCAGAGGACTCCTATGC	0.338													9	25					0.000442599	0.000505017	1	0	T	163325191	G	T	163325191	3	4	263	1	0	0	0	0	1	0	0	0	10818	1174	41	2	1377	2	NUF2	1	163325191	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	2474195	163325191	85925430	13	46872											
ZC3H11A	9877	broad.mit.edu	37	chr1	203821425	203821425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgattttgagaaactaatAtgggagatttcaggaggcaa	15	11	12	3	0	1	3	1	2	0	2	1	7	1	4	0	3	1	1	0	3	4	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:203821425A>G	ENST00000545588.1	+	17	6158	c.2331A>G	c.(2329-2331)atA>atG	p.I777M	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777M|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777M|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777M|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777M	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAAACTAATATGGGAGATTT	0.468													17	42					0	0	0	0	G	203821425	A	G	203821425	3	3	263	1	0	0	0	0	1	0	0	0	17655	439	16	5	2393	5	ZC3H11A	1	203821425	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	40496234	203821425	45429196	14	46873											
MARK1	4139	broad.mit.edu	37	chr1	220804398	220804398	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataatgaaagatcgatggAtgaatgttggtcatgaagag	17	10	12	2	1	1	5	1	3	0	2	2	7	1	6	0	2	0	1	0	2	5	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:220804398A>T	ENST00000402574.1	+	10	1528	c.526A>T	c.(526-528)Atg>Ttg	p.M176L	MARK1_ENST00000366917.4_Missense_Mutation_p.M311L|MARK1_ENST00000366918.4_Missense_Mutation_p.M289L	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	311	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGATCGATGGATGAATGTTGG	0.338													7	22					0	0	0	0	T	220804398	A	T	220804398	3	4	263	1	0	0	0	0	1	0	0	0	9381	333	12	5	969	5	MARK1	1	220804398	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	16982973	220804398	28446223	15	46874											
TARBP1	6894	broad.mit.edu	37	chr1	234596074	234596074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgccaaagccttagataGaaacaaaatgggaacagcac	18	7	8	8	0	0	2	0	0	0	2	0	3	0	3	2	1	5	1	2	1	7	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:234596074G>T	ENST00000040877.1	-	7	1467	c.1468C>A	c.(1468-1470)Cta>Ata	p.L490I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	490					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCCTTAGATAGAAACAAAATG	0.378													12	36					6.31663e-08	7.3648e-08	1	0	T	234596074	G	T	234596074	3	4	263	1	0	0	0	0	1	0	0	0	15646	933	33	2	3493	2	TARBP1	1	234596074	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	13791676	234596074	14654547	16	46875											
OR11L1	391189	broad.mit.edu	37	chr1	248004351	248004351	+	Missense_Mutation	SNP	G	G	T																															agataactgggttcagcagtGgtgtgaccacagtgtagaag																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:248004351G>T	ENST00000355784.2	-	1	903	c.848C>A	c.(847-849)cCa>cAa	p.P283Q		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTTCAGCAGTGGTGTGACCAC	0.443													17	59					1.02788e-11	1.2252e-11	1	0	T	248004351	G	T	248004351	3	4	263	1	0	0	0	0	1	0	0	0	11001	1348	47	4	124	4	OR11L1	1	248004351	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	13408277	248004351	1246270	17	46876	351	2									
OR11L1	391189	broad.mit.edu	37	chr1	248004352	248004352	+	Missense_Mutation	SNP	G	G	T																															gataactgggttcagcagtgGtgtgaccacagtgtagaaga																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:248004352G>T	ENST00000355784.2	-	1	902	c.847C>A	c.(847-849)Cca>Aca	p.P283T		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCAGCAGTGGTGTGACCACA	0.443													17	58					1.02788e-11	1.2252e-11	1	0	T	248004352	G	T	248004352	3	4	263	1	0	0	0	0	1	0	0	0	11001	1261	44	4	125	4	OR11L1	1	248004352	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	1	248004352	1246269	18	46877	351	2									
OR2M5	127059	broad.mit.edu	37	chr1	248309150	248309150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggatctggagagggtcGtcgcaaagcttttactacct	9	11	12	9	2	1	1	0	0	1	1	3	3	1	2	1	3	3	2	1	3	3	3	rs147580819		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr1:248309150G>A	ENST00000366476.1	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGAGAGGGTCGTCGCAAAGCT	0.463													73	182					0	0	0	0	A	248309150	G	A	248309150	3	1	263	1	0	0	0	0	1	0	0	0	11084	1145	40	1	703	1	OR2M5	1	248309150	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	304798	248309150	941471	19	46878											
ATAD2B	54454	broad.mit.edu	37	chr2	23977087	23977087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcataatctttacgatgacGgtagatacactgactaagaa	15	11	8	7	2	2	4	1	2	1	2	2	5	2	4	0	1	2	1	0	1	6	6			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	ecf3e7c5-9513-40ce-90c6-64b9bca806f9	g.chr2:23977087G>C	ENST00000238789.5	-	27	4640	c.4297C>G	c.(4297-4299)Cgt>Ggt	p.R1433G	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1433							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACGATGACGGTAGATACAC	0.318													3	4					0	0	0	0	C	23977087	G	C	23977087	3	2	263	1	0	0	0	0	1	0	0	0	1076	1116	39	3	87	3	ATAD2B	2	23977087	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08		23977087	219222286	20	46879											
USP34	9736	broad.mit.edu	37	chr2	61415337	61415337	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaatgtcatgttgctgcAtatgactaaagagtcctctg	12	13	8	8	0	2	2	1	1	1	1	3	2	3	2	1	0	2	3	1	0	5	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:61415337A>G	ENST00000398571.2	-	80	10617	c.10541T>C	c.(10540-10542)aTg>aCg	p.M3514T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3514					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATGTTGCTGCATATGACTAAA	0.468													16	68					0	0	0	0	G	61415337	A	G	61415337	3	3	263	1	0	0	0	0	1	0	0	0	17161	217	8	5	103	5	USP34	2	61415337	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	37438250	61415337	181784036	21	46880											
USP34	9736	broad.mit.edu	37	chr2	61515972	61515973	+	Frame_Shift_Ins	INS	-	-	A																															tggatctactgcaaactggcINSatattaacttcagcaagcaa																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:61515972_61515973insA	ENST00000398571.2	-	34	4664_4665	c.4588_4589insT	c.(4588-4590)ccafs	p.P1530fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1530					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGCAAACTGGCATATTAACTTC	0.411													20	40	---	---	---	---					A	61515973	-	A	61515972	7	5	263	1	0	1	1	0	0	0	0	0	17161	710	25	0	6239	0	USP34	2	61515972	Frame_Shift_Ins	INS	-	TCGA-CV-6952-01A-11D-1912-08	100635	61515972	181683401	22	46881											
ERCC3	2071	broad.mit.edu	37	chr2	128044295	128044295	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacctggtatggtgtgcacTtcatccaggatcatgaggcc	8	12	11	10	0	2	1	2	1	0	0	3	2	3	2	3	4	2	2	3	4	2	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:128044295T>C	ENST00000493187.2	-	8	1597	c.1134A>G	c.(1132-1134)gaA>gaG	p.E378E	ERCC3_ENST00000285398.2_Silent_p.E442E			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	442	Helicase ATP-binding.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGGTGTGCACTTCATCCAGGA	0.557			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				23	84					0	0	0	0	C	128044295	T	C	128044295	2	2	263	1	0	0	0	0	0	0	0	1	5252	1606	56	5		5	ERCC3	2	128044295	Silent	SNP	T	TCGA-CV-6952-01A-11D-1912-08	66528323	128044295	115155078	23	46882											
LRP1B	53353	broad.mit.edu	37	chr2	141081531	141081531	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatttaaagctaagtactCtactgaaccatggccaaatt	16	12	5	8	0	1	1	0	1	1	0	1	1	1	1	2	1	4	2	2	1	9	7			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:141081531C>A	ENST00000389484.3	-	81	13416	c.12445G>T	c.(12445-12447)Gag>Tag	p.E4149*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4149					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E4149*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTAAGTACTCTACTGAACCA	0.289										TSP Lung(27;0.18)			21	55					7.45023e-12	8.96041e-12	1	0	A	141081531	C	A	141081531	4	1	263	1	0	0	0	0	0	1	0	0	9019	922	32	2	1398	2	LRP1B	2	141081531	Nonsense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	13037236	141081531	102117842	24	46883											
LRP1B	53353	broad.mit.edu	37	chr2	141625820	141625820	+	Missense_Mutation	SNP	C	C	G																															aaatttgcatcccagtctgtCcagaaaagaattctaaaaaa																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:141625820C>G	ENST00000389484.3	-	26	5153	c.4182G>C	c.(4180-4182)tgG>tgC	p.W1394C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1394					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCAGTCTGTCCAGAAAAGAA	0.358										TSP Lung(27;0.18)			9	33					0	0	0	0	G	141625820	C	G	141625820	3	3	263	1	0	0	0	0	1	0	0	0	9019	856	30	2	9881	2	LRP1B	2	141625820	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	544289	141625820	101573553	25	46884	352	2									
LRP1B	53353	broad.mit.edu	37	chr2	141625821	141625821	+	Missense_Mutation	SNP	C	C	G																															aatttgcatcccagtctgtcCagaaaagaattctaaaaaaa																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:141625821C>G	ENST00000389484.3	-	26	5152	c.4181G>C	c.(4180-4182)tGg>tCg	p.W1394S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1394					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAGTCTGTCCAGAAAAGAAT	0.358										TSP Lung(27;0.18)			9	33					0	0	0	0	G	141625821	C	G	141625821	3	3	263	1	0	0	0	0	1	0	0	0	9019	595	21	4	9882	4	LRP1B	2	141625821	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	1	141625821	101573552	26	46885	352	2									
ZEB2	9839	broad.mit.edu	37	chr2	145156648	145156648	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagggatggggacctggaAtttgagtactggtagacttt	9	12	14	6	0	0	2	0	1	0	1	1	5	1	5	2	5	1	2	2	5	3	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:145156648A>G	ENST00000558170.2	-	8	3290	c.2106T>C	c.(2104-2106)aaT>aaC	p.N702N	ZEB2_ENST00000409487.3_Silent_p.N702N|ZEB2_ENST00000303660.4_Silent_p.N702N|ZEB2_ENST00000539609.3_Silent_p.N678N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	702						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGACCTGGAATTTGAGTACT	0.463													48	155					0	0	0	0	G	145156648	A	G	145156648	2	3	263	1	0	0	0	0	0	0	0	1	17719	98	4	5		5	ZEB2	2	145156648	Silent	SNP	A	TCGA-CV-6952-01A-11D-1912-08	3530827	145156648	98042725	27	46886											
EPC2	26122	broad.mit.edu	37	chr2	149526743	149526743	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccccagtatcagaaccGgaagaagaaaatgatcctga	15	8	9	9	1	1	5	1	2	0	3	3	6	3	6	4	1	1	1	4	1	6	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:149526743G>A	ENST00000258484.6	+	8	1198	c.1164G>A	c.(1162-1164)ccG>ccA	p.P388P		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	388					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TATCAGAACCGGAAGAAGAAA	0.388													7	14					0	0	0	0	A	149526743	G	A	149526743	2	1	263	1	0	0	0	0	0	0	0	1	5199	1103	39	1		1	EPC2	2	149526743	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08	4370095	149526743	93672630	28	46887											
SLC25A12	8604	broad.mit.edu	37	chr2	172644450	172644451	+	Frame_Shift_Ins	INS	-	-	G																															gggtcaccagagatgcagctINSgggacacctttcaggagaaa																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:172644450_172644451insG	ENST00000422440.2	-	16	1629_1630	c.1592_1593insC	c.(1591-1593)cgcfs	p.R531fs	SLC25A12_ENST00000392592.4_Frame_Shift_Ins_p.R424fs	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	531					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAGATGCAGCTGGGACACCTTT	0.465													16	39	---	---	---	---					G	172644451	-	G	172644450	7	5	263	1	0	1	1	0	0	0	0	0	14562	1567	55	0	455	0	SLC25A12	2	172644450	Frame_Shift_Ins	INS	-	TCGA-CV-6952-01A-11D-1912-08	23117707	172644450	70554923	29	46888											
PGAP1	80055	broad.mit.edu	37	chr2	197738421	197738421	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaattacctgtccaaagttCagaagctctagattgtagta	13	14	7	7	0	2	2	1	0	1	2	3	2	3	2	2	0	2	4	2	0	7	7			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:197738421C>G	ENST00000354764.3	-	15	1602	c.1488G>C	c.(1486-1488)ctG>ctC	p.L496L	PGAP1_ENST00000409475.1_Silent_p.L496L	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	496					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTCCAAAGTTCAGAAGCTCTA	0.294													15	48					0	0	0	0	G	197738421	C	G	197738421	2	3	263	1	0	0	0	0	0	0	0	1	11849	813	29	2		2	PGAP1	2	197738421	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	25093971	197738421	45460952	30	46889											
SF3B1	23451	broad.mit.edu	37	chr2	198285204	198285204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attatcatggtccgcctatgCtttttgtattcatcttcccg	6	18	6	11	2	3	0	2	0	1	0	5	0	5	0	3	1	1	2	3	1	3	7			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:198285204C>T	ENST00000335508.5	-	4	454	c.363G>A	c.(361-363)aaG>aaA	p.K121K	SF3B1_ENST00000409915.4_Silent_p.K121K|SF3B1_ENST00000487698.1_Silent_p.K121K|SF3B1_ENST00000414963.2_Silent_p.K121K	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	121					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCCGCCTATGCTTTTTGTATT	0.373			Mis		myelodysplastic syndrome								23	49					0	0	0	0	T	198285204	C	T	198285204	2	4	263	1	0	0	0	0	0	0	0	1	14236	796	28	4		4	SF3B1	2	198285204	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	546783	198285204	44914169	31	46890											
PSMD1	5707	broad.mit.edu	37	chr2	231944262	231944262	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttacagagataatttggaAtggttagccagagccactaa	14	12	9	6	0	0	2	0	0	0	2	0	4	0	3	2	2	3	1	2	2	5	6			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:231944262A>G	ENST00000308696.6	+	11	1335	c.1173A>G	c.(1171-1173)gaA>gaG	p.E391E	PSMD1_ENST00000409643.1_Silent_p.E391E|PSMD1_ENST00000373635.4_Silent_p.E391E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	391					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|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)	ATAATTTGGAATGGTTAGCCA	0.313													6	21					0	0	0	0	G	231944262	A	G	231944262	2	3	263	1	0	0	0	0	0	0	0	1	12771	98	4	5		5	PSMD1	2	231944262	Silent	SNP	A	TCGA-CV-6952-01A-11D-1912-08	33659058	231944262	11255111	32	46891											
INPP5D	3635	broad.mit.edu	37	chr2	233925301	233925301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcgagtccatctcccGggcatacgcgctctgcgtgc	5	8	12	16	5	2	0	0	0	2	0	4	1	3	0	3	1	5	2	3	1	1	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:233925301G>A	ENST00000359570.5	+	1	113	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	INPP5D_ENST00000538935.1_Missense_Mutation_p.R38Q			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	38	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCATCTCCCGGGCATACGCG	0.617													15	57					0	0	0	0	A	233925301	G	A	233925301	3	1	263	1	0	0	0	0	1	0	0	0	7809	1116	39	1	115	1	INPP5D	2	233925301	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	1981039	233925301	9274072	33	46892											
ASB1	51665	broad.mit.edu	37	chr2	239344474	239344474	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaagggggccgaggtggAtctggtggacgtaaaaggac	10	5	19	7	3	1	0	0	0	1	0	1	5	1	4	2	8	0	1	2	8	3	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr2:239344474A>G	ENST00000264607.4	+	3	561	c.314A>G	c.(313-315)gAt>gGt	p.D105G	ASB1_ENST00000409297.1_Intron|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	105					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GCCGAGGTGGATCTGGTGGAC	0.627													12	29					0	0	0	0	G	239344474	A	G	239344474	3	3	263	1	0	0	0	0	1	0	0	0	1017	333	12	5	324	5	ASB1	2	239344474	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	5419173	239344474	3854899	34	46893											
KIF9	64147	broad.mit.edu	37	chr3	47284589	47284589	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctgagggaaggggctcaAtgctggaagtttcccggtcc	8	9	15	9	1	2	1	1	1	1	0	4	3	4	3	2	5	1	3	2	5	3	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:47284589A>G	ENST00000335044.2	-	16	2018	c.1661T>C	c.(1660-1662)aTt>aCt	p.I554T	KIF9_ENST00000444589.2_Intron|KIF9_ENST00000452770.2_Missense_Mutation_p.I554T|KIF9_ENST00000265529.3_Missense_Mutation_p.I554T|KIF9_ENST00000487440.1_5'UTR|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Intron	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	554					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGGGGCTCAATGCTGGAAGT	0.498													16	41					0	0	0	0	G	47284589	A	G	47284589	3	3	263	1	0	0	0	0	1	0	0	0	8361	101	4	5	735	5	KIF9	3	47284589	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08		47284589	150737841	35	46894											
P4HTM	54681	broad.mit.edu	37	chr3	49042401	49042401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatgcccacgtggacagtgGgcctgtgtacccagagacca	9	6	12	14	1	0	1	0	0	0	1	0	3	0	2	5	2	2	1	5	2	1	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:49042401G>A	ENST00000343546.4	+	6	1363	c.995G>A	c.(994-996)gGg>gAg	p.G332E	P4HTM_ENST00000383729.4_Missense_Mutation_p.G332E	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	332	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GTGGACAGTGGGCCTGTGTAC	0.617													26	48					0	0	0	0	A	49042401	G	A	49042401	3	1	263	1	0	0	0	0	1	0	0	0	11431	1232	43	4	1017	4	P4HTM	3	49042401	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	1757812	49042401	148980029	36	46895											
USP19	10869	broad.mit.edu	37	chr3	49155121	49155121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accacacagtctgtatctgtGaaagcagcatctacatcctc	12	10	6	13	0	3	1	0	1	3	0	5	1	4	1	2	0	3	3	2	0	3	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:49155121G>C	ENST00000453664.1	-	4	759	c.441C>G	c.(439-441)ttC>ttG	p.F147L	USP19_ENST00000398896.1_5'UTR|USP19_ENST00000398898.2_Missense_Mutation_p.F85L|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000434032.2_Missense_Mutation_p.F147L|USP19_ENST00000417901.1_Missense_Mutation_p.F147L|USP19_ENST00000398888.2_Missense_Mutation_p.F147L|USP19_ENST00000398892.3_Missense_Mutation_p.F85L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	147	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ctgtatctgtgaaagcagcat	0.502													14	38					0	0	0	0	C	49155121	G	C	49155121	3	2	263	1	0	0	0	0	1	0	0	0	17146	1281	45	2	3607	2	USP19	3	49155121	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	112720	49155121	148867309	37	46896											
PHLDB2	90102	broad.mit.edu	37	chr3	111688671	111688671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacctgccgaggattcctCatcaaaatgggtgggaaaat	14	8	11	8	1	2	1	2	0	0	1	3	4	3	3	3	3	1	0	3	3	5	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:111688671C>T	ENST00000431670.2	+	16	3861	c.3450C>T	c.(3448-3450)ctC>ctT	p.L1150L	PHLDB2_ENST00000412622.1_Silent_p.L1107L|PHLDB2_ENST00000393923.3_Silent_p.L1134L|PHLDB2_ENST00000393925.3_Silent_p.L1150L|PHLDB2_ENST00000495180.1_Silent_p.L641L|PHLDB2_ENST00000481953.1_Silent_p.L1107L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1150	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.L1107L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGGATTCCTCATCAAAATGG	0.418													18	78					0	0	0	0	T	111688671	C	T	111688671	2	4	263	1	0	0	0	0	0	0	0	1	11924	813	29	2		2	PHLDB2	3	111688671	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	62533550	111688671	86333759	38	46897											
ZBTB38	253461	broad.mit.edu	37	chr3	141162473	141162473	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagaaaactatcctaccAttggacaaaatggaggttca	15	12	7	7	0	1	1	1	0	0	1	2	3	2	3	2	3	2	1	2	3	7	6			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:141162473A>G	ENST00000514251.1	+	4	1522	c.1243A>G	c.(1243-1245)Att>Gtt	p.I415V	ZBTB38_ENST00000441582.2_Missense_Mutation_p.I415V|ZBTB38_ENST00000321464.5_Missense_Mutation_p.I416V			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	415					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CTATCCTACCATTGGACAAAA	0.448													27	77					0	0	0	0	G	141162473	A	G	141162473	3	3	263	1	0	0	0	0	1	0	0	0	17634	217	8	5	1245	5	ZBTB38	3	141162473	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	29473802	141162473	56859957	39	46898											
GRK7	131890	broad.mit.edu	37	chr3	141499575	141499575	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcctgagaatgtgcttctGgatgacctcggcaactgcag	10	9	12	10	1	1	2	0	2	1	1	2	4	1	3	2	2	4	3	2	2	3	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:141499575G>T	ENST00000264952.2	+	2	1109	c.972G>T	c.(970-972)ctG>ctT	p.L324L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	324	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ATGTGCTTCTGGATGACCTCG	0.587													6	27					0.000157383	0.000181911	1	0	T	141499575	G	T	141499575	2	4	263	1	0	0	0	0	0	0	0	1	6844	1335	47	4		4	GRK7	3	141499575	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08	337102	141499575	56522855	40	46899											
AADAC	13	broad.mit.edu	37	chr3	151532078	151532078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacgcacatctgaaaactaTacaaaatttggtaagtttgg	17	11	7	6	1	1	1	0	1	1	0	1	1	1	1	0	2	3	3	0	2	8	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:151532078T>C	ENST00000232892.6	+	1	254	c.128T>C	c.(127-129)aTa>aCa	p.I43T	RP11-454C18.2_ENST00000475855.1_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.I43T|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	43					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTGAAAACTATACAAAATTTG	0.348													3	21					0	0	0	0	C	151532078	T	C	151532078	3	2	263	1	0	0	0	0	1	0	0	0	10	1406	49	5	130	5	AADAC	3	151532078	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	10032503	151532078	46490352	41	46900											
SI	6476	broad.mit.edu	37	chr3	164735778	164735778	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccattgcattgctgttgagtAagaaaacaccatgagcattg	13	11	9	8	0	0	3	0	2	0	1	0	3	0	3	2	0	4	5	2	0	3	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:164735778A>T	ENST00000264382.3	-	29	3562	c.3500T>A	c.(3499-3501)tTa>tAa	p.L1167*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1167	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.L1167*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCTGTTGAGTAAGAAAACACC	0.338										HNSCC(35;0.089)			26	31					0	0	0	0	T	164735778	A	T	164735778	4	4	263	1	0	0	0	0	0	1	0	0	14385	372	13	5	2063	5	SI	3	164735778	Nonsense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	13203700	164735778	33286652	42	46901											
CLDN11	5010	broad.mit.edu	37	chr3	170150427	170150427	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attggtgctgtgctgtgcctCgtgggtggctgtgtcatcct	2	15	15	9	1	1	0	1	0	0	0	3	0	2	0	2	3	3	3	2	3	0	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:170150427C>T	ENST00000064724.3	+	3	709	c.507C>T	c.(505-507)ctC>ctT	p.L169L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000489485.1_3'UTR	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	169					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGCTGTGCCTCGTGGGTGGCT	0.592													31	131					0	0	0	0	T	170150427	C	T	170150427	2	4	263	1	0	0	0	0	0	0	0	1	3503	871	31	1		1	CLDN11	3	170150427	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	5414649	170150427	27872003	43	46902											
FNDC3B	64778	broad.mit.edu	37	chr3	172070689	172070689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctccactctctgtgtcctgGaggaggagccccttgatgcc	5	11	11	14	0	2	1	0	1	2	0	5	4	3	4	5	3	2	0	5	3	0	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:172070689G>C	ENST00000336824.4	+	22	2710	c.2611G>C	c.(2611-2613)Gag>Cag	p.E871Q	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E871Q|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E871Q	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	871	Fibronectin type-III 7.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTGTGTCCTGGAGGAGGAGCC	0.567													26	68					0	0	0	0	C	172070689	G	C	172070689	3	2	263	1	0	0	0	0	1	0	0	0	6015	1175	41	2	2693	2	FNDC3B	3	172070689	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	1920262	172070689	25951741	44	46903											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			11	59					0	0	0	0	A	178936082	G	A	178936082	3	1	263	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	6865393	178936082	19086348	45	46904											
ZAR1	326340	broad.mit.edu	37	chr4	48496198	48496198	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccaccgtcaagatttgtgCggtagatgcaaaggcaaacg	12	7	11	11	3	1	2	1	0	0	2	1	2	1	2	3	2	3	3	3	2	4	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:48496198C>T	ENST00000327939.4	+	4	1252	c.1212C>T	c.(1210-1212)tgC>tgT	p.C404C		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	404					multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity			endometrium(1)|large_intestine(4)	5						AAGATTTGTGCGGTAGATGCA	0.478													14	62					0	0	0	0	T	48496198	C	T	48496198	2	4	263	1	0	0	0	0	0	0	0	1	17611	776	27	1		1	ZAR1	4	48496198	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08		48496198	142658078	46	46905											
ANKRD17	26057	broad.mit.edu	37	chr4	74007554	74007554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagtgcttgaactggtacacGaggagcctaagacaaaggac	14	6	12	9	1	0	2	0	1	0	1	0	5	0	4	1	3	4	2	1	3	4	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:74007554G>C	ENST00000358602.4	-	14	2352	c.2236C>G	c.(2236-2238)Cgt>Ggt	p.R746G	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.R633G|ANKRD17_ENST00000330838.6_Missense_Mutation_p.R746G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	746					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTGGTACACGAGGAGCCTAA	0.418													7	27					0	0	0	0	C	74007554	G	C	74007554	3	2	263	1	0	0	0	0	1	0	0	0	646	1058	37	3	5659	3	ANKRD17	4	74007554	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	25511356	74007554	117146722	47	46906											
CXCL9	4283	broad.mit.edu	37	chr4	76928561	76928572	+	In_Frame_Del	DEL	CAAGATGATGCC	CAAGATGATGCC	-																															tgcactccaatcagaaccagCaagatgatgcccaagaggaa																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:76928561_76928572delCAAGATGATGCC	ENST00000264888.5	-	1	69_80	c.31_42delGGCATCATCTTG	c.(31-42)del	p.GIIL11del		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	11					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCAGAACCAGCAAGATGATGCCCAAGAGGAAA	0.396													11	101	---	---	---	---					-	76928572	CAAGATGATGCC	-	76928561	7	5	263	1	0	1	0	1	0	0	0	0	4121	709	25	0	351	0	CXCL9	4	76928561	In_Frame_Del	DEL	CAAGATGATGCC	TCGA-CV-6952-01A-11D-1912-08	2921007	76928561	114225715	48	46907											
ART3	419	broad.mit.edu	37	chr4	77033553	77033553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taacagctccaggtccagttCctgttccaggtcccaaaagc	10	9	8	14	0	0	0	0	0	0	0	5	0	5	0	5	2	3	3	5	2	3	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:77033553C>T	ENST00000355810.4	+	12	1170	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S	ART3_ENST00000349321.3_Missense_Mutation_p.P340S|ART3_ENST00000341029.5_Missense_Mutation_p.P329S	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	351					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGTCCAGTTCCTGTTCCAGG	0.403													22	72					0	0	0	0	T	77033553	C	T	77033553	3	4	263	1	0	0	0	0	1	0	0	0	1002	855	30	2	1093	2	ART3	4	77033553	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	104992	77033553	114120723	49	46908											
FRAS1	80144	broad.mit.edu	37	chr4	79455676	79455676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcacttaacactgaatttCagctctgcaataatgagaag	15	12	6	8	0	3	2	2	2	1	1	3	3	3	2	0	0	3	2	0	0	5	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:79455676C>G	ENST00000264895.6	+	71	11439	c.10999C>G	c.(10999-11001)Cag>Gag	p.Q3667E		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3662					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACTGAATTTCAGCTCTGCAA	0.418													42	115					0	0	0	0	G	79455676	C	G	79455676	3	3	263	1	0	0	0	0	1	0	0	0	6089	827	29	2	11356	2	FRAS1	4	79455676	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	2422123	79455676	111698600	50	46909											
C4orf33	132321	broad.mit.edu	37	chr4	130023943	130023943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaatgaactgtgggattatGaaggtaagtggaagtactgt	13	12	13	3	0	1	2	1	2	0	0	1	4	1	4	0	3	2	2	0	3	7	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:130023943G>A	ENST00000281146.4	+	2	899	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	C4orf33_ENST00000502887.1_Missense_Mutation_p.E60K|C4orf33_ENST00000425929.1_Missense_Mutation_p.E60K	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	60								p.E60K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTGGGATTATGAAGGTAAGTG	0.388													23	74					0	0	0	0	A	130023943	G	A	130023943	3	1	263	1	0	0	0	0	1	0	0	0	2284	1291	45	2	180	2	C4orf33	4	130023943	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	50568267	130023943	61130333	51	46910											
FAT1	2195	broad.mit.edu	37	chr4	187525003	187525003	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccaatgacgccacctgaGtattcttctccagaagaggt	10	11	8	12	1	2	4	0	2	2	2	4	4	3	4	4	1	0	1	4	1	3	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr4:187525003G>C	ENST00000441802.2	-	19	10886	c.10677C>G	c.(10675-10677)taC>taG	p.Y3559*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3559	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGCCACCTGAGTATTCTTCTC	0.468										HNSCC(5;0.00058)			15	23					0	0	0	0	C	187525003	G	C	187525003	4	2	263	1	0	0	0	0	0	1	0	0	5734	1024	36	4	3125	4	FAT1	4	187525003	Nonsense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	57501060	187525003	3629273	52	46911											
ZFYVE16	9765	broad.mit.edu	37	chr5	79734575	79734575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttccaatcacttgtgctAtagattctacagctgatcca	10	15	6	10	0	2	2	1	1	1	1	4	2	4	2	2	0	3	3	2	0	4	7			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:79734575A>G	ENST00000338008.5	+	3	2251	c.2071A>G	c.(2071-2073)Ata>Gta	p.I691V	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.I691V|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.I691V	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	691					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CACTTGTGCTATAGATTCTAC	0.388													16	35					0	0	0	0	G	79734575	A	G	79734575	3	3	263	1	0	0	0	0	1	0	0	0	17759	449	16	5	2077	5	ZFYVE16	5	79734575	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08		79734575	101180685	53	46912											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834543	101834543	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtgccgggcgacgcctacGaacatggctcaccctgggcg	7	5	15	14	5	1	0	1	0	0	0	1	3	1	0	3	3	3	1	3	3	2	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:101834543G>A	ENST00000506729.1	-	1	177	c.6C>T	c.(4-6)ttC>ttT	p.F2F	SLCO6A1_ENST00000379807.3_Silent_p.F2F|SLCO6A1_ENST00000389019.3_Silent_p.F2F|SLCO6A1_ENST00000513675.1_Silent_p.F2F|SLCO6A1_ENST00000379810.1_Silent_p.F2F			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	2						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGACGCCTACGAACATGGCTC	0.711													31	140					0	0	0	0	A	101834543	G	A	101834543	2	1	263	1	0	0	0	0	0	0	0	1	14820	1049	37	1		1	SLCO6A1	5	101834543	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08	22099968	101834543	79080717	54	46913											
RAPGEF6	51735	broad.mit.edu	37	chr5	130764620	130764620	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttcgctatctgcatcagtCacatctcctagtttaggatg	8	14	8	11	1	4	0	2	0	2	0	6	1	4	1	1	1	1	4	1	1	3	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:130764620C>G	ENST00000509018.1	-	27	4960	c.4755G>C	c.(4753-4755)gtG>gtC	p.V1585V	RAPGEF6_ENST00000307984.5_Intron|RAPGEF6_ENST00000296859.6_Silent_p.V1593V|RAPGEF6_ENST00000507093.1_Intron|FNIP1_ENST00000514667.1_Silent_p.V1635V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1585					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTGCATCAGTCACATCTCCTA	0.418													22	74					0	0	0	0	G	130764620	C	G	130764620	2	3	263	1	0	0	0	0	0	0	0	1	13130	813	29	2		2	RAPGEF6	5	130764620	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	28930077	130764620	50150640	55	46914											
AFF4	27125	broad.mit.edu	37	chr5	132222032	132222032	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtcagtgtctttgagtaCttcagagcattttccttctt	6	19	7	9	0	5	2	2	1	3	1	6	2	6	2	1	0	2	2	1	0	1	7			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:132222032C>T	ENST00000265343.5	-	18	3448	c.3069G>A	c.(3067-3069)aaG>aaA	p.K1023K		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1023					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTTTGAGTACTTCAGAGCAT	0.473													38	82					0	0	0	0	T	132222032	C	T	132222032	2	4	263	1	0	0	0	0	0	0	0	1	359	564	20	4		4	AFF4	5	132222032	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	1457412	132222032	48693228	56	46915											
C5orf24	134553	broad.mit.edu	37	chr5	134190804	134190804	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactacaagtggcagaagcAtagaaataaaagatgaacta	21	6	9	5	0	0	5	0	1	0	4	0	5	0	5	0	1	3	2	0	1	9	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:134190804A>G	ENST00000394976.3	+	2	442	c.214A>G	c.(214-216)Ata>Gta	p.I72V	C5orf24_ENST00000435259.2_Missense_Mutation_p.I72V|C5orf24_ENST00000504727.1_Missense_Mutation_p.I72V|C5orf24_ENST00000338051.4_Missense_Mutation_p.I72V	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	72										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGCAGAAGCATAGAAATAAA	0.453													28	55					0	0	0	0	G	134190804	A	G	134190804	3	3	263	1	0	0	0	0	1	0	0	0	2308	217	8	5	216	5	C5orf24	5	134190804	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	1968772	134190804	46724456	57	46916											
ARHGAP26	23092	broad.mit.edu	37	chr5	142513667	142513667	+	Frame_Shift_Del	DEL	A	A	-																															acaccgttcagtcaacagagAaacgtgagtctttgctgcat																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:142513667delA	ENST00000378004.3	+	19	2189	c.1834delA	c.(1834-1836)aafs	p.K612fs	ARHGAP26_ENST00000274498.4_Frame_Shift_Del_p.K612fs	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	612	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCAACAGAGAAACGTGAGTC	0.587													18	87	---	---	---	---					-	142513667	A	-	142513667	7	5	263	1	0	1	0	1	0	0	0	0	877	247	9	0	1908	0	ARHGAP26	5	142513667	Frame_Shift_Del	DEL	A	TCGA-CV-6952-01A-11D-1912-08	8322863	142513667	38401593	58	46917											
FOXI1	2299	broad.mit.edu	37	chr5	169535280	169535280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagctccccagagaagcggCcctcccctcccccatcaggc	7	4	8	22	1	1	1	1	0	0	1	4	2	4	1	8	2	2	1	8	2	1	0			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr5:169535280C>T	ENST00000306268.6	+	2	863	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	268					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGAAGCGGCCCTCCCCTCC	0.647									Pendred syndrome				17	63					0	0	0	0	T	169535280	C	T	169535280	3	4	263	1	0	0	0	0	1	0	0	0	6056	739	26	4	808	4	FOXI1	5	169535280	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	27021613	169535280	11379980	59	46918											
BTN1A1	696	broad.mit.edu	37	chr6	26509146	26509146	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacaacatgaatgatggatCtgatatctatactttctcca	13	14	5	9	0	3	3	0	3	3	0	4	4	3	4	1	1	3	0	1	1	6	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:26509146C>G	ENST00000244513.6	+	7	1391	c.1325C>G	c.(1324-1326)tCt>tGt	p.S442C		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	442	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AATGATGGATCTGATATCTAT	0.517													11	37					0	0	0	0	G	26509146	C	G	26509146	3	3	263	1	0	0	0	0	1	0	0	0	1568	913	32	2	1351	2	BTN1A1	6	26509146	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08		26509146	144605921	60	46919											
VARS	7407	broad.mit.edu	37	chr6	31752260	31752260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagagcagggtgcgacctGtcagctccttcttatccacc	7	9	11	14	2	2	1	1	0	1	1	4	3	4	1	4	2	3	2	4	2	1	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:31752260G>A	ENST00000375663.3	-	12	1927	c.1487C>T	c.(1486-1488)aCa>aTa	p.T496I	VARS_ENST00000444930.2_Missense_Mutation_p.T201I	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	496					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	p.T496I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGTGCGACCTGTCAGCTCCTT	0.587													23	60					0	0	0	0	A	31752260	G	A	31752260	3	1	263	1	0	0	0	0	1	0	0	0	17219	1377	48	4	2383	4	VARS	6	31752260	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	5243114	31752260	139362807	61	46920											
PTK7	5754	broad.mit.edu	37	chr6	43096755	43096755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcatcaagcagccgtcctcCcaggatgcactgcaggggcg	8	7	12	14	2	2	0	2	0	0	0	4	1	4	1	3	3	4	3	3	3	1	1	rs140431672		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:43096755C>T	ENST00000230419.4	+	2	341	c.120C>T	c.(118-120)tcC>tcT	p.S40S	PTK7_ENST00000345201.2_Silent_p.S40S|PTK7_ENST00000471863.1_Silent_p.S40S|PTK7_ENST00000349241.2_Silent_p.S40S|PTK7_ENST00000352931.2_Silent_p.S40S|PTK7_ENST00000476760.1_Silent_p.S40S|PTK7_ENST00000481273.1_Silent_p.S48S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	40	Ig-like C2-type 1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCCGTCCTCCCAGGATGCAC	0.637													11	50					0	0	0	0	T	43096755	C	T	43096755	2	4	263	1	0	0	0	0	0	0	0	1	12845	610	22	4		4	PTK7	6	43096755	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	11344495	43096755	128018312	62	46921											
RNGTT	8732	broad.mit.edu	37	chr6	89650812	89650812	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaggctctttaggtaatttGagagcatgctgggatggaac	10	13	13	5	0	1	1	0	1	1	1	1	4	1	3	0	4	3	4	0	4	4	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:89650812G>C	ENST00000369485.4	-	2	338	c.152C>G	c.(151-153)tCa>tGa	p.S51*	RNGTT_ENST00000265607.6_Nonsense_Mutation_p.S51*|RNGTT_ENST00000369475.3_Nonsense_Mutation_p.S51*|RNGTT_ENST00000538899.1_Intron	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	51	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S51*(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TAGGTAATTTGAGAGCATGCT	0.343													15	60					0	0	0	0	C	89650812	G	C	89650812	4	2	263	1	0	0	0	0	0	1	0	0	13588	1294	45	2	1701	2	RNGTT	6	89650812	Nonsense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	46554057	89650812	81464255	63	46922											
ROS1	6098	broad.mit.edu	37	chr6	117710592	117710592	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaccgaaagctcctgcggGcggcctggcagagggtgcag	8	4	17	12	3	0	1	0	0	0	1	1	2	1	1	3	4	4	4	3	4	1	0			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:117710592G>A	ENST00000368508.3	-	12	1878	c.1680C>T	c.(1678-1680)cgC>cgT	p.R560R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.R569R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	560	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCTCCTGCGGGCGGCCTGGCA	0.552			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								26	83					0	0	0	0	A	117710592	G	A	117710592	2	1	263	1	0	0	0	0	0	0	0	1	13616	1190	42	4		4	ROS1	6	117710592	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08	28059780	117710592	53404475	64	46923											
GRM1	2911	broad.mit.edu	37	chr6	146720766	146720766	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgcatgttggcgatggcaAgctgccctgccgctccaaca	8	8	11	14	2	0	0	0	0	0	0	1	1	1	0	3	2	5	5	3	2	2	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:146720766A>G	ENST00000392299.2	+	8	3061	c.2591A>G	c.(2590-2592)aAg>aGg	p.K864R	GRM1_ENST00000282753.1_Missense_Mutation_p.K864R|GRM1_ENST00000355289.4_Missense_Mutation_p.K864R|GRM1_ENST00000507907.1_Missense_Mutation_p.K864R|GRM1_ENST00000361719.2_Missense_Mutation_p.K864R|GRM1_ENST00000492807.2_Missense_Mutation_p.K864R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	864					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCGATGGCAAGCTGCCCTGC	0.507													8	27					0	0	0	0	G	146720766	A	G	146720766	3	3	263	1	0	0	0	0	1	0	0	0	6846	72	3	5	2617	5	GRM1	6	146720766	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	29010174	146720766	24394301	65	46924											
AKAP12	9590	broad.mit.edu	37	chr6	151672243	151672243	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacgagggcagctaccattaTtgaagaaaggtctccttctt	11	11	10	9	1	2	2	0	1	2	1	3	4	2	2	2	2	2	2	2	2	4	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr6:151672243T>C	ENST00000402676.2	+	4	2957	c.2717T>C	c.(2716-2718)aTt>aCt	p.I906T	AKAP12_ENST00000253332.1_Missense_Mutation_p.I906T|AKAP12_ENST00000354675.6_Missense_Mutation_p.I808T|AKAP12_ENST00000359755.5_Missense_Mutation_p.I801T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	906					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.I906T(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCTACCATTATTGAAGAAAGG	0.507													15	41					0	0	0	0	C	151672243	T	C	151672243	3	2	263	1	0	0	0	0	1	0	0	0	448	1493	52	5	2756	5	AKAP12	6	151672243	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	4951477	151672243	19442824	66	46925											
SP8	221833	broad.mit.edu	37	chr7	20824320	20824320	+	Silent	SNP	G	G	A																															gggatgtggcagctgtgcagGcccttgcgccgcaagctcgc																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:20824320G>A	ENST00000361443.4	-	3	1299	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	SP8_ENST00000418710.2_Silent_p.G372G	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						AGCTGTGCAGGCCCTTGCGCC	0.721													8	20					0	0	0	0	A	20824320	G	A	20824320	2	1	263	1	0	0	0	0	0	0	0	1	15058	1190	42	4		4	SP8	7	20824320	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08		20824320	138314343	67	46926	353	2									
SP8	221833	broad.mit.edu	37	chr7	20824321	20824321	+	Missense_Mutation	SNP	C	C	A																															ggatgtggcagctgtgcaggCccttgcgccgcaagctcgcc																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:20824321C>A	ENST00000361443.4	-	3	1298	c.1061G>T	c.(1060-1062)gGc>gTc	p.G354V	SP8_ENST00000418710.2_Missense_Mutation_p.G372V	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCTGTGCAGGCCCTTGCGCCG	0.721													9	20					0.00448238	0.00509275	1	0	A	20824321	C	A	20824321	3	1	263	1	0	0	0	0	1	0	0	0	15058	739	26	4	415	4	SP8	7	20824321	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	1	20824321	138314342	68	46927	353	2									
PCLO	27445	broad.mit.edu	37	chr7	82545553	82545553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgataaggtgaaacttgctGatggtacaaagtttgttgct	11	14	11	5	0	0	3	0	3	0	0	0	3	0	3	0	2	4	5	0	2	4	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:82545553G>T	ENST00000423517.2	-	7	12086	c.11749C>A	c.(11749-11751)Cag>Aag	p.Q3917K	PCLO_ENST00000437081.1_Missense_Mutation_p.Q637K|PCLO_ENST00000333891.8_Missense_Mutation_p.Q3917K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3848					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAACTTGCTGATGGTACAAA	0.463													119	316					3.89651e-80	4.86154e-80	1	0	T	82545553	G	T	82545553	3	4	263	1	0	0	0	0	1	0	0	0	11654	1299	45	2	3772	2	PCLO	7	82545553	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	61721232	82545553	76593110	69	46928											
UFSP1	402682	broad.mit.edu	37	chr7	100486561	100486562	+	Frame_Shift_Del	DEL	CC	CC	-																															ctgcactcacctcttgccagCccacccacccagcagcctgt																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:100486561_100486562delCC	ENST00000388761.2	-	1	777_778	c.331_332delGG	c.(331-333)cfs	p.G111fs		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	111										lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCTTGCCAGCCCACCCACCCA	0.584													24	100	---	---	---	---					-	100486562	CC	-	100486561	7	5	263	1	0	1	0	1	0	0	0	0	17033	739	26	0	100	0	UFSP1	7	100486561	Frame_Shift_Del	DEL	CC	TCGA-CV-6952-01A-11D-1912-08	17941008	100486561	58652102	70	46929											
PRKAR2B	5577	broad.mit.edu	37	chr7	106781346	106781346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaaattggtcaaagatgggGagcatgtaattgatcaaggt	16	10	12	3	0	2	2	2	1	0	1	2	3	2	3	0	4	1	2	0	4	5	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:106781346G>A	ENST00000265717.4	+	5	794	c.535G>A	c.(535-537)Gag>Aag	p.E179K	PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	179					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CAAAGATGGGGAGCATGTAAT	0.328													7	44					0	0	0	0	A	106781346	G	A	106781346	3	1	263	1	0	0	0	0	1	0	0	0	12586	1175	41	2	553	2	PRKAR2B	7	106781346	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	6294785	106781346	52357317	71	46930											
NDUFA5	4698	broad.mit.edu	37	chr7	123185711	123185711	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccttgaagttggtcttctAattttttaacatctggttcc	7	18	7	9	1	3	1	0	1	3	0	4	1	4	1	2	2	1	2	2	2	3	8			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:123185711A>C	ENST00000471770.1	-	4	337	c.203T>G	c.(202-204)tTa>tGa	p.L68*	NDUFA5_ENST00000355749.2_Nonsense_Mutation_p.L68*|NDUFA5_ENST00000467117.1_5'UTR			Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	68					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|urinary_tract(1)	2					NADH(DB00157)	TTGGTCTTCTAATTTTTTAAC	0.303													3	82					0	0	0	0	C	123185711	A	C	123185711	4	2	263	1	0	0	0	0	0	1	0	0	10338	372	13	5	155	5	NDUFA5	7	123185711	Nonsense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	16404365	123185711	35952952	72	46931											
NUP205	23165	broad.mit.edu	37	chr7	135279436	135279436	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcttttggaaaatctcctGaaattgctgcttccctctgg	8	14	8	11	0	2	1	0	1	2	0	4	2	3	2	2	2	3	3	2	2	3	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:135279436G>C	ENST00000285968.6	+	13	1998	c.1972G>C	c.(1972-1974)Gaa>Caa	p.E658Q	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	658					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AAAATCTCCTGAAATTGCTGC	0.463													20	48					0	0	0	0	C	135279436	G	C	135279436	3	2	263	1	0	0	0	0	1	0	0	0	10830	1291	45	2	2022	2	NUP205	7	135279436	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	12093725	135279436	23859227	73	46932											
KIAA1549	57670	broad.mit.edu	37	chr7	138602949	138602949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatacttgaggatcttcctCaaattcagagaagtctgcta	14	12	7	8	0	4	2	2	1	2	1	5	4	5	3	1	1	2	1	1	1	5	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr7:138602949C>G	ENST00000440172.1	-	2	1471	c.1423G>C	c.(1423-1425)Gag>Cag	p.E475Q	KIAA1549_ENST00000422774.1_Missense_Mutation_p.E475Q|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E425Q	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	475						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGATCTTCCTCAAATTCAGAG	0.483			O	BRAF	pilocytic astrocytoma								14	31					0	0	0	0	G	138602949	C	G	138602949	3	3	263	1	0	0	0	0	1	0	0	0	8295	835	29	2	4505	2	KIAA1549	7	138602949	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	3323513	138602949	20535714	74	46933											
DLGAP2	9228	broad.mit.edu	37	chr8	1497609	1497609	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccactgctaccccgacgcGctgcagagccccttcgggga	6	5	12	18	4	0	1	0	0	0	1	1	3	0	2	5	2	4	3	5	2	1	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:1497609G>A	ENST00000421627.2	+	2	884	c.750G>A	c.(748-750)gcG>gcA	p.A250A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	329					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACCCCGACGCGCTGCAGAGCC	0.677													36	65					0	0	0	0	A	1497609	G	A	1497609	2	1	263	1	0	0	0	0	0	0	0	1	4597	1074	38	1		1	DLGAP2	8	1497609	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08		1497609	144866413	75	46934											
VPS37A	137492	broad.mit.edu	37	chr8	17142026	17142026	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagattgaaagtagctgcAcatgaagctgaggaagaatc	16	7	12	6	0	0	5	0	3	0	2	1	6	0	6	0	1	3	5	0	1	6	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:17142026A>T	ENST00000324849.4	+	10	1688	c.1014A>T	c.(1012-1014)gcA>gcT	p.A338A	VPS37A_ENST00000521829.1_Silent_p.A313A	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	338	VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		AAGTAGCTGCACATGAAGCTG	0.393													27	21					0	0	0	0	T	17142026	A	T	17142026	2	4	263	1	0	0	0	0	0	0	0	1	17301	146	6	5		5	VPS37A	8	17142026	Silent	SNP	A	TCGA-CV-6952-01A-11D-1912-08	15644417	17142026	129221996	76	46935											
STC1	6781	broad.mit.edu	37	chr8	23709899	23709899	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaacgaaccacttcagcTgaaagagacaaatccatcca	17	5	7	12	1	1	2	1	1	0	1	3	4	3	2	3	1	3	2	3	1	4	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:23709899T>A	ENST00000290271.2	-	2	402		c.e2-2		STC1_ENST00000524323.1_Splice_Site	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1						cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.?(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CCACTTCAGCTGAAAGAGACA	0.507													19	34					0	0	0	0	A	23709899	T	A	23709899	5	1	263	1	0	0	0	0	0	0	1	0	15365	1594	55	5	638	5	STC1	8	23709899	Splice_Site	SNP	T	TCGA-CV-6952-01A-11D-1912-08	6567873	23709899	122654123	77	46936											
ZFHX4	79776	broad.mit.edu	37	chr8	77768159	77768159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttcatgatcaatcaaggcgGaacggaaggcaccaaaccag	15	6	10	10	2	3	1	3	1	0	0	3	3	3	3	2	4	2	1	2	4	5	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:77768159G>A	ENST00000521891.2	+	10	9450	c.9002G>A	c.(9001-9003)gGa>gAa	p.G3001E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2956E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2975E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2956E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2956						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATCAAGGCGGAACGGAAGGC	0.463										HNSCC(33;0.089)			9	30					0	0	0	0	A	77768159	G	A	77768159	3	1	263	1	0	0	0	0	1	0	0	0	17730	1174	41	2	9036	2	ZFHX4	8	77768159	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	54058260	77768159	68595863	78	46937											
CCNE2	9134	broad.mit.edu	37	chr8	95894373	95894373	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacataccagcatagccaaaTagtttgtatgtgtctggata	14	12	8	7	0	1	0	0	0	1	0	1	1	1	1	2	1	4	3	2	1	7	6			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:95894373T>C	ENST00000520509.1	-	11	1340	c.1088A>G	c.(1087-1089)tAt>tGt	p.Y363C	CCNE2_ENST00000396133.3_Missense_Mutation_p.Y363C|CCNE2_ENST00000308108.4_Missense_Mutation_p.Y363C			O96020	CCNE2_HUMAN	cyclin E2	363					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CATAGCCAAATAGTTTGTATG	0.363													21	76					0	0	0	0	C	95894373	T	C	95894373	3	2	263	1	0	0	0	0	1	0	0	0	2950	1406	49	5	134	5	CCNE2	8	95894373	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	18126214	95894373	50469649	79	46938											
VPS13B	157680	broad.mit.edu	37	chr8	100831673	100831673	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagattgtgcagttccCatctcaacatccctcattaa	10	13	4	14	0	3	1	3	0	1	1	6	1	5	1	3	0	2	2	3	0	2	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:100831673C>T	ENST00000358544.2	+	48	8841	c.8730C>T	c.(8728-8730)ccC>ccT	p.P2910P	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.P2885P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2910					protein transport			p.P2885P(1)|p.P2910P(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTGCAGTTCCCATCTCAACAT	0.363													7	60					0	0	0	0	T	100831673	C	T	100831673	2	4	263	1	0	0	0	0	0	0	0	1	17286	581	21	4		4	VPS13B	8	100831673	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	4937300	100831673	45532349	80	46939											
PKHD1L1	93035	broad.mit.edu	37	chr8	110456987	110456987	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatggatgttggtatcaGggaaactgtcactttgactg	10	13	11	7	0	3	1	3	1	0	0	3	3	3	3	0	3	1	2	0	3	3	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:110456987G>C	ENST00000378402.5	+	38	4993	c.4889G>C	c.(4888-4890)aGg>aCg	p.R1630T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1630	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTGGTATCAGGGAAACTGTC	0.413										HNSCC(38;0.096)			67	293					0	0	0	0	C	110456987	G	C	110456987	3	2	263	1	0	0	0	0	1	0	0	0	12044	1000	35	4	5039	4	PKHD1L1	8	110456987	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	9625314	110456987	35907035	81	46940											
CSMD3	114788	broad.mit.edu	37	chr8	114327022	114327022	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccacatgtataaataaatCctgcaacaaaagacaataaa	22	7	3	9	0	0	1	0	0	0	1	1	1	1	1	2	0	2	2	2	0	11	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:114327022C>T	ENST00000297405.5	-	2	423	c.178_splice	c.e2-1	p.G60_splice	CSMD3_ENST00000455883.2_Splice_Site_p.G60_splice|CSMD3_ENST00000352409.3_Splice_Site_p.G60_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G20_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	60						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAATAAATCCTGCAACAAA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	93					0	0	0	0	T	114327022	C	T	114327022	5	4	263	1	0	0	0	0	0	0	1	0	3978	869	30	2	11224	2	CSMD3	8	114327022	Splice_Site	SNP	C	TCGA-CV-6952-01A-11D-1912-08	3870035	114327022	32037000	82	46941											
MTBP	27085	broad.mit.edu	37	chr8	121475947	121475947	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagaggattgacaaacagTaccaaacagaattctgtgtt	16	10	8	7	0	1	3	0	1	1	2	1	4	1	4	1	1	4	2	1	1	5	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:121475947T>C	ENST00000305949.1	+	10	1038	c.993T>C	c.(991-993)agT>agC	p.S331S		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	331					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TGACAAACAGTACCAAACAGA	0.343													24	136					0	0	0	0	C	121475947	T	C	121475947	2	2	263	1	0	0	0	0	0	0	0	1	9982	1635	57	5		5	MTBP	8	121475947	Silent	SNP	T	TCGA-CV-6952-01A-11D-1912-08	7148925	121475947	24888075	83	46942											
FAM84B	157638	broad.mit.edu	37	chr8	127569307	127569307	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacttgttgagcaggttctCgggcgtgtaggtactcagcg	6	11	15	9	3	2	1	1	1	1	0	3	1	2	1	0	3	3	6	0	3	2	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:127569307C>A	ENST00000304916.3	-	2	783	c.328G>T	c.(328-330)Gag>Tag	p.E110*	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	110						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			AGCAGGTTCTCGGGCGTGTAG	0.617													25	25					3.08376e-08	3.61125e-08	1	0	A	127569307	C	A	127569307	4	1	263	1	0	0	0	0	0	1	0	0	5688	893	31	3	608	3	FAM84B	8	127569307	Nonsense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	6093360	127569307	18794715	84	46943											
PLEC	5339	broad.mit.edu	37	chr8	144993792	144993792	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggttccgcacggggtcCaccaggaagccagtggccgc	6	5	15	15	4	0	0	0	0	0	0	2	1	2	1	5	5	1	3	5	5	1	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr8:144993792C>T	ENST00000322810.4	-	32	10777	c.10608G>A	c.(10606-10608)gtG>gtA	p.V3536V	PLEC_ENST00000356346.3_Silent_p.V3385V|PLEC_ENST00000527096.1_Silent_p.V3422V|PLEC_ENST00000357649.2_Silent_p.V3403V|PLEC_ENST00000354589.3_Silent_p.V3399V|PLEC_ENST00000398774.2_Silent_p.V3367V|PLEC_ENST00000345136.3_Silent_p.V3399V|PLEC_ENST00000436759.2_Silent_p.V3426V|PLEC_ENST00000354958.2_Silent_p.V3377V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3536	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCACGGGGTCCACCAGGAAGC	0.692													10	26					0	0	0	0	T	144993792	C	T	144993792	2	4	263	1	0	0	0	0	0	0	0	1	12124	581	21	4		4	PLEC	8	144993792	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	17424485	144993792	1370230	85	46944											
SLC24A2	25769	broad.mit.edu	37	chr9	19516220	19516220	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaccaggaacacaaagtaGaggccaaacatgatgaagcc	18	3	9	11	0	0	3	0	2	0	1	0	4	0	4	4	2	3	1	4	2	5	1	rs41270119		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:19516220G>C	ENST00000341998.2	-	10	1978	c.1917C>G	c.(1915-1917)ctC>ctG	p.L639L	SLC24A2_ENST00000286344.3_Silent_p.L622L	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	639					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ACACAAAGTAGAGGCCAAACA	0.493													33	207					0	0	0	0	C	19516220	G	C	19516220	2	2	263	1	0	0	0	0	0	0	0	1	14554	929	33	2		2	SLC24A2	9	19516220	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08		19516220	121697211	86	46945											
ZCCHC6	79670	broad.mit.edu	37	chr9	88961250	88961250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcagtctctcttcagtctCtcctcagcctgctgtaagcc	6	13	7	15	0	5	0	2	0	3	0	8	0	6	0	3	0	4	3	3	0	1	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:88961250C>G	ENST00000375961.2	-	3	880	c.666G>C	c.(664-666)gaG>gaC	p.E222D	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.E222D|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E222D|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.E55D			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	222					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCTTCAGTCTCTCCTCAGCCT	0.423													30	134					0	0	0	0	G	88961250	C	G	88961250	3	3	263	1	0	0	0	0	1	0	0	0	17687	912	32	2	3921	2	ZCCHC6	9	88961250	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	69445030	88961250	52252181	87	46946											
GRIN3A	116443	broad.mit.edu	37	chr9	104433149	104433149	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaatcagggtaaccactctCaagtgtagcttacttggatg	11	12	9	9	0	3	0	3	0	1	0	4	1	3	1	1	2	3	3	1	2	5	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:104433149C>G	ENST00000361820.3	-	3	2145	c.1545G>C	c.(1543-1545)ttG>ttC	p.L515F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	515					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TAACCACTCTCAAGTGTAGCT	0.507													26	142					0	0	0	0	G	104433149	C	G	104433149	3	3	263	1	0	0	0	0	1	0	0	0	6833	825	29	2	1830	2	GRIN3A	9	104433149	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	15471899	104433149	36780282	88	46947											
CYLC2	1539	broad.mit.edu	37	chr9	105767470	105767470	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgaaaaaggaggtgcaaAgaaagataacaaaaaagata	25	4	10	2	0	0	5	0	1	0	4	0	6	0	6	0	2	2	1	0	2	9	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:105767470A>G	ENST00000374798.3	+	5	627	c.557A>G	c.(556-558)aAg>aGg	p.K186R	CYLC2_ENST00000487798.1_Missense_Mutation_p.K186R	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	186	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ggaggtgcaaagaaagataac	0.363													6	12					0	0	0	0	G	105767470	A	G	105767470	3	3	263	1	0	0	0	0	1	0	0	0	4174	72	3	5	575	5	CYLC2	9	105767470	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	1334321	105767470	35445961	89	46948											
GLE1	2733	broad.mit.edu	37	chr9	131285595	131285595	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacaccaagagaagctaaaAgctgagcaccgtcacagagc	16	3	11	11	1	1	3	1	1	0	2	1	5	1	4	2	1	4	3	2	1	4	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:131285595A>G	ENST00000309971.4	+	5	724	c.618A>G	c.(616-618)aaA>aaG	p.K206K	GLE1_ENST00000372770.4_Silent_p.K206K|GLE1_ENST00000539582.1_5'UTR	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	206					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AGAAGCTAAAAGCTGAGCACC	0.488													3	86					0	0	0	0	G	131285595	A	G	131285595	2	3	263	1	0	0	0	0	0	0	0	1	6486	69	3	5		5	GLE1	9	131285595	Silent	SNP	A	TCGA-CV-6952-01A-11D-1912-08	25518125	131285595	9927836	90	46949											
SARDH	1757	broad.mit.edu	37	chr9	136582547	136582547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacctcccagtccaggtCaaagaggccgaaggcaaact	14	4	10	13	1	1	1	1	0	0	1	3	3	3	1	4	3	2	1	4	3	4	0			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr9:136582547C>A	ENST00000371872.4	-	8	1308	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y	SARDH_ENST00000422262.2_Missense_Mutation_p.D183Y|SARDH_ENST00000439388.1_Missense_Mutation_p.D351Y	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	351					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGTCCAGGTCAAAGAGGCCG	0.597													10	43					2.80697e-09	3.3162e-09	1	0	A	136582547	C	A	136582547	3	1	263	1	0	0	0	0	1	0	0	0	13927	826	29	2	1761	2	SARDH	9	136582547	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	5296952	136582547	4630884	91	46950											
SFMBT2	57713	broad.mit.edu	37	chr10	7214579	7214579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcggggttgctttcccCgatggggggcttggagatct	3	12	17	9	2	1	1	0	0	1	1	3	3	2	1	2	6	1	4	2	6	0	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:7214579C>T	ENST00000361972.4	-	18	2119	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R	SFMBT2_ENST00000397167.1_Missense_Mutation_p.G677R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	677					regulation of transcription, DNA-dependent	nucleus		p.G677R(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTGCTTTCCCCGATGGGGGGC	0.517													23	52					0	0	0	0	T	7214579	C	T	7214579	3	4	263	1	0	0	0	0	1	0	0	0	14245	652	23	1	671	1	SFMBT2	10	7214579	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08		7214579	128320168	92	46951											
IPMK	253430	broad.mit.edu	37	chr10	59976032	59976032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctttacatccattatacaGggcttattaaatttatgggt	12	17	6	6	0	1	0	0	0	1	0	2	0	2	0	1	2	2	1	1	2	7	8			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:59976032G>A	ENST00000373935.3	-	4	742	c.420C>T	c.(418-420)ccC>ccT	p.P140P		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	140	Substrate binding (By similarity).					nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CCATTATACAGGGCTTATTAA	0.328													9	38					0	0	0	0	A	59976032	G	A	59976032	2	1	263	1	0	0	0	0	0	0	0	1	7845	987	35	4		4	IPMK	10	59976032	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08	52761453	59976032	75558715	93	46952											
SGPL1	8879	broad.mit.edu	37	chr10	72631612	72631612	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctggctgtcaaatacaaaAtaccccttcatgtcgacgct	12	10	7	12	2	2	0	2	0	0	0	3	1	2	0	2	1	3	3	2	1	5	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:72631612A>G	ENST00000373202.3	+	11	1128	c.928A>G	c.(928-930)Ata>Gta	p.I310V		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	310					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	CAAATACAAAATACCCCTTCA	0.433													19	68					0	0	0	0	G	72631612	A	G	72631612	3	3	263	1	0	0	0	0	1	0	0	0	14305	101	4	5	966	5	SGPL1	10	72631612	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	12655580	72631612	62903135	94	46953											
DLG5	9231	broad.mit.edu	37	chr10	79576322	79576322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcacctgtcctttctccGctccccgagggacgcggggt	3	10	12	16	4	2	0	1	0	1	0	5	2	4	1	5	3	1	2	5	3	0	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:79576322G>A	ENST00000372391.2	-	20	4017	c.4012C>T	c.(4012-4014)Cgg>Tgg	p.R1338W	DLG5_ENST00000372388.2_Missense_Mutation_p.R998W|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1338					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCCTTTCTCCGCTCCCCGAGG	0.637													10	64					0	0	0	0	A	79576322	G	A	79576322	3	1	263	1	0	0	0	0	1	0	0	0	4595	1086	38	1	1799	1	DLG5	10	79576322	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	6944710	79576322	55958425	95	46954											
BTAF1	9044	broad.mit.edu	37	chr10	93740247	93740247	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatacctatactgcctgatAtgctccgacacatttttcag	10	15	5	11	1	1	1	1	1	0	0	2	2	2	1	3	0	4	1	3	0	5	7			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:93740247A>T	ENST00000265990.6	+	15	1995	c.1687A>T	c.(1687-1689)Atg>Ttg	p.M563L	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	563					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACTGCCTGATATGCTCCGACA	0.373													11	45					0	0	0	0	T	93740247	A	T	93740247	3	4	263	1	0	0	0	0	1	0	0	0	1544	449	16	5	1745	5	BTAF1	10	93740247	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	14163925	93740247	41794500	96	46955											
PDE6C	5146	broad.mit.edu	37	chr10	95399902	95399902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttcccccttacagagcacGgattgattaaatgtggaata	13	11	8	9	1	0	2	0	1	0	1	1	4	1	4	2	2	2	1	2	2	5	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:95399902G>A	ENST00000371447.3	+	12	1696	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	520					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TACAGAGCACGGATTGATTAA	0.403													30	71					0	0	0	0	A	95399902	G	A	95399902	3	1	263	1	0	0	0	0	1	0	0	0	11718	1117	39	1	1604	1	PDE6C	10	95399902	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	1659655	95399902	40134845	97	46956											
FAM24B	196792	broad.mit.edu	37	chr10	124610029	124610030	+	Translation_Start_Site	INS	-	-	A																															taccaccagcgatgacaggcINSataatcactgtatggaggtc																								rs146874803		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:124610029_124610030insA	ENST00000368898.3	-	0	292_293				FAM24B_ENST00000462859.1_Intron|CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000368896.1_Start_Codon_Ins|CUZD1_ENST00000545804.1_Intron	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B							extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CGATGACAGGCATAATCACTGT	0.5													26	71	---	---	---	---					A	124610030	-	A	124610029	6	5	263	1	0	1	1	0	0	0	0	0	5592	710	25	0		0	FAM24B	10	124610029	Translation_Start_Site	INS	-	TCGA-CV-6952-01A-11D-1912-08	29210127	124610029	10924718	98	46957											
IKZF5	64376	broad.mit.edu	37	chr10	124758050	124758050	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctttgtccccactaactgatCcagaaatcatgttcacgtga	11	12	6	12	1	2	3	2	2	0	1	4	3	4	3	3	0	1	1	3	0	2	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr10:124758050C>G	ENST00000368886.5	-	3	412	c.92G>C	c.(91-93)gGa>gCa	p.G31A	IKZF5_ENST00000479103.1_5'UTR	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		ACTAACTGATCCAGAAATCAT	0.403													19	61					0	0	0	0	G	124758050	C	G	124758050	3	3	263	1	0	0	0	0	1	0	0	0	7671	855	30	2	1179	2	IKZF5	10	124758050	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	148021	124758050	10776697	99	46958											
RIC8A	60626	broad.mit.edu	37	chr11	209939	209939	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagagactgagcgggccaTggagatcctcaaagtgctct	11	7	12	11	1	2	3	1	1	1	2	3	5	3	3	3	2	2	1	3	2	2	0			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:209939T>C	ENST00000526104.1	+	3	2009	c.665T>C	c.(664-666)aTg>aCg	p.M222T	RIC8A_ENST00000325207.5_Missense_Mutation_p.M222T|RIC8A_ENST00000527696.1_Missense_Mutation_p.M216T			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	222						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGCGGGCCATGGAGATCCTC	0.587													7	33					0	0	0	0	C	209939	T	C	209939	3	2	263	1	0	0	0	0	1	0	0	0	13438	1464	51	5	675	5	RIC8A	11	209939	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08		209939	134796577	100	46959											
OR52A1	23538	broad.mit.edu	37	chr11	5173296	5173296	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtggatgaaccacatttGaagcaagcaggaatcaaaat	16	9	10	6	0	1	2	1	2	0	0	1	4	1	4	1	2	3	2	1	2	6	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:5173296G>A	ENST00000380367.1	-	2	721	c.304C>T	c.(304-306)Caa>Taa	p.Q102*	OR52A1_ENST00000328942.1_Nonsense_Mutation_p.Q102*			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	102					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACCACATTTGAAGCAAGCAG	0.458													8	23					0	0	0	0	A	5173296	G	A	5173296	4	1	263	1	0	0	0	0	0	1	0	0	11179	1299	45	2	636	2	OR52A1	11	5173296	Nonsense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	4963357	5173296	129833220	101	46960											
NLRP14	338323	broad.mit.edu	37	chr11	7064378	7064378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtccccctagtgtgctgggCcgcttgtacttgtctgaagc	5	12	12	12	1	1	1	0	1	1	0	2	1	2	1	3	1	3	3	3	1	3	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:7064378C>A	ENST00000299481.4	+	4	1467	c.1121C>A	c.(1120-1122)gCc>gAc	p.A374D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	374	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGTGCTGGGCCGCTTGTACT	0.453													38	109					3.21399e-22	3.97285e-22	1	0	A	7064378	C	A	7064378	3	1	263	1	0	0	0	0	1	0	0	0	10546	739	26	4	1131	4	NLRP14	11	7064378	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	1891082	7064378	127942138	102	46961											
SBF2	81846	broad.mit.edu	37	chr11	10215531	10215531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttccccagaccttctcctGatcctgttaataaaatcaaa	12	14	3	12	0	2	2	1	1	1	1	5	2	4	2	5	0	0	1	5	0	4	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:10215531G>A	ENST00000256190.8	-	2	196	c.59C>T	c.(58-60)tCa>tTa	p.S20L		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	20	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding	p.S20L(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACCTTCTCCTGATCCTGTTAA	0.333													3	15					0	0	0	0	A	10215531	G	A	10215531	3	1	263	1	0	0	0	0	1	0	0	0	13945	1294	45	2	5646	2	SBF2	11	10215531	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	3151153	10215531	124790985	103	46962											
NAV2	89797	broad.mit.edu	37	chr11	20136232	20136232	+	Missense_Mutation	SNP	C	C	T																															acaacagcacgagtggcctcCcctgctgcagttacggcctg																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:20136232C>T	ENST00000396085.1	+	38	7425	c.7064C>T	c.(7063-7065)cCc>cTc	p.P2355L	NAV2_ENST00000349880.4_Missense_Mutation_p.P2352L|NAV2_ENST00000360655.4_Missense_Mutation_p.P2288L|NAV2_ENST00000396087.3_Missense_Mutation_p.P2411L|NAV2_ENST00000540292.1_Missense_Mutation_p.P2342L|NAV2_ENST00000311043.8_Missense_Mutation_p.P1416L|NAV2_ENST00000527559.2_Missense_Mutation_p.P2340L|NAV2_ENST00000533917.1_Missense_Mutation_p.P1416L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2411						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAGTGGCCTCCCCTGCTGCAG	0.612													13	24					0	0	0	0	T	20136232	C	T	20136232	3	4	263	1	0	0	0	0	1	0	0	0	10254	623	22	4	7319	4	NAV2	11	20136232	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	9920701	20136232	114870284	104	46963	354	2									
NAV2	89797	broad.mit.edu	37	chr11	20136233	20136233	+	Silent	SNP	C	C	T																															caacagcacgagtggcctccCctgctgcagttacggcctga																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:20136233C>T	ENST00000396085.1	+	38	7426	c.7065C>T	c.(7063-7065)ccC>ccT	p.P2355P	NAV2_ENST00000349880.4_Silent_p.P2352P|NAV2_ENST00000360655.4_Silent_p.P2288P|NAV2_ENST00000396087.3_Silent_p.P2411P|NAV2_ENST00000540292.1_Silent_p.P2342P|NAV2_ENST00000311043.8_Silent_p.P1416P|NAV2_ENST00000527559.2_Silent_p.P2340P|NAV2_ENST00000533917.1_Silent_p.P1416P	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2411						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGTGGCCTCCCCTGCTGCAGT	0.617													13	24					0	0	0	0	T	20136233	C	T	20136233	2	4	263	1	0	0	0	0	0	0	0	1	10254	610	22	4		4	NAV2	11	20136233	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	1	20136233	114870283	105	46964	354	2									
C11orf74	119710	broad.mit.edu	37	chr11	36654876	36654876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtttggaactgattcttCagaaaacatttttacctcag	12	15	7	7	0	3	2	2	1	1	1	3	3	3	3	1	1	3	1	1	1	4	6			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:36654876C>T	ENST00000446510.2	+	3	278	c.179C>T	c.(178-180)tCa>tTa	p.S60L	C11orf74_ENST00000534635.1_Intron|C11orf74_ENST00000347206.4_Intron|C11orf74_ENST00000334307.5_Missense_Mutation_p.S60L			Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	60										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				ACTGATTCTTCAGAAAACATT	0.338													8	34					0	0	0	0	T	36654876	C	T	36654876	3	4	263	1	0	0	0	0	1	0	0	0	1673	838	29	2	185	2	C11orf74	11	36654876	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	16518643	36654876	98351640	106	46965											
AHNAK	79026	broad.mit.edu	37	chr11	62285788	62285788	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctccctgcaggcttggTcccctcagtgtcacatctgg	6	11	10	14	0	4	1	2	0	2	1	6	1	5	1	3	3	1	2	3	3	0	1	rs146188257		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:62285788T>C	ENST00000378024.4	-	5	16375	c.16101A>G	c.(16099-16101)ggA>ggG	p.G5367G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5367					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCAGGCTTGGTCCCCTCAGTG	0.547													21	70					0	0	0	0	C	62285788	T	C	62285788	2	2	263	1	0	0	0	0	0	0	0	1	414	1654	58	5		5	AHNAK	11	62285788	Silent	SNP	T	TCGA-CV-6952-01A-11D-1912-08	25630912	62285788	72720728	107	46966											
CTTN	2017	broad.mit.edu	37	chr11	70263146	70263146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtggttttggcggcaagtAtggcgtgcaggccgaccgag	7	8	17	9	4	0	0	0	0	0	0	0	2	0	0	2	5	1	4	2	5	2	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:70263146A>G	ENST00000301843.8	+	8	691	c.485A>G	c.(484-486)tAt>tGt	p.Y162C	CTTN_ENST00000376561.3_Missense_Mutation_p.Y162C|CTTN_ENST00000346329.3_Missense_Mutation_p.Y162C	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	162						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGCGGCAAGTATGGCGTGCAG	0.582													26	93					0	0	0	0	G	70263146	A	G	70263146	3	3	263	1	0	0	0	0	1	0	0	0	4076	449	16	5	507	5	CTTN	11	70263146	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	7977358	70263146	64743370	108	46967											
CLPB	81570	broad.mit.edu	37	chr11	72013356	72013356	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcactcacctcgtgtcGctcctggaactcggacatgt	7	11	9	14	3	3	0	3	0	0	0	7	2	4	2	2	2	1	1	2	2	1	0			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:72013356G>A	ENST00000294053.3	-	11	1422	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	CLPB_ENST00000437826.2_Nonsense_Mutation_p.R372*|CLPB_ENST00000340729.5_Nonsense_Mutation_p.R358*|CLPB_ENST00000538021.1_Nonsense_Mutation_p.R25*|AP000593.7_ENST00000546065.1_RNA|CLPB_ENST00000543042.1_Nonsense_Mutation_p.R216*|CLPB_ENST00000538039.1_Nonsense_Mutation_p.R387*	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	417					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ACCTCGTGTCGCTCCTGGAAC	0.522													9	56					0	0	0	0	A	72013356	G	A	72013356	4	1	263	1	0	0	0	0	0	1	0	0	3581	1095	38	1	902	1	CLPB	11	72013356	Nonsense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	1750210	72013356	62993160	109	46968											
C2CD3	26005	broad.mit.edu	37	chr11	73803532	73803532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagattaaaggtctgtattCccacatcctcacgatgctgg	10	11	10	10	1	2	1	1	0	1	1	4	3	4	1	2	3	1	2	2	3	3	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:73803532C>T	ENST00000334126.7	-	19	3672	c.3446G>A	c.(3445-3447)gGa>gAa	p.G1149E	C2CD3_ENST00000313663.7_Missense_Mutation_p.G1149E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1149						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGTCTGTATTCCCACATCCTC	0.423													9	49					0	0	0	0	T	73803532	C	T	73803532	3	4	263	1	0	0	0	0	1	0	0	0	2174	855	30	2	2497	2	C2CD3	11	73803532	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	1790176	73803532	61202984	110	46969											
PRKRIR	5612	broad.mit.edu	37	chr11	76063019	76063019	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagttgtggtgatcgaTggaaaaaagaacaaacttcc	17	8	10	6	1	0	2	0	1	0	1	2	4	1	3	1	2	3	2	1	2	6	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:76063019T>A	ENST00000260045.3	-	5	1280	c.1175A>T	c.(1174-1176)cAt>cTt	p.H392L		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	392					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGGTGATCGATGGAAAAAAGA	0.378													10	36					0	0	0	0	A	76063019	T	A	76063019	3	1	263	1	0	0	0	0	1	0	0	0	12606	1464	51	5	1114	5	PRKRIR	11	76063019	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	2259487	76063019	58943497	111	46970											
DLG2	1740	broad.mit.edu	37	chr11	83874509	83874509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaattttttcttaccctctCcagtgtaatttcttcaaatt	11	19	2	9	0	4	0	1	0	3	0	5	0	4	0	2	0	1	1	2	0	5	8			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:83874509C>T	ENST00000398309.2	-	4	774	c.304G>A	c.(304-306)Gag>Aag	p.E102K	DLG2_ENST00000531015.1_Missense_Mutation_p.E69K|DLG2_ENST00000418306.2_Missense_Mutation_p.E51K|DLG2_ENST00000376104.2_Missense_Mutation_p.E207K|DLG2_ENST00000398301.2_Missense_Mutation_p.E141K|DLG2_ENST00000543673.1_Missense_Mutation_p.E207K|DLG2_ENST00000330014.6_Missense_Mutation_p.E41K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000532653.1_Missense_Mutation_p.E102K|DLG2_ENST00000524982.1_Missense_Mutation_p.E102K|DLG2_ENST00000280241.8_Missense_Mutation_p.E141K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	102	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTTACCCTCTCCAGTGTAATT	0.308													7	26					0	0	0	0	T	83874509	C	T	83874509	3	4	263	1	0	0	0	0	1	0	0	0	4592	864	30	2	2438	2	DLG2	11	83874509	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	7811490	83874509	51132007	112	46971											
CHORDC1	26973	broad.mit.edu	37	chr11	89944413	89944413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcattccctgatgacaGtttaagtttatcaagtgctt	9	18	6	8	0	3	2	2	2	1	0	4	2	4	2	1	0	1	3	1	0	3	8			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:89944413G>C	ENST00000320585.6	-	5	812	c.403C>G	c.(403-405)Ctg>Gtg	p.L135V	CHORDC1_ENST00000457199.2_Missense_Mutation_p.L116V	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	135	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				CCTGATGACAGTTTAAGTTTA	0.303													18	65					0	0	0	0	C	89944413	G	C	89944413	3	2	263	1	0	0	0	0	1	0	0	0	3394	1020	36	4	623	4	CHORDC1	11	89944413	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	6069904	89944413	45062103	113	46972											
TECTA	7007	broad.mit.edu	37	chr11	120998603	120998603	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaaccagggcttcgtcctCagcaccagccagtgcgtccc	7	7	10	17	2	1	0	1	0	0	0	4	0	3	0	5	1	5	3	5	1	1	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:120998603C>T	ENST00000392793.1	+	9	2188	c.1917C>T	c.(1915-1917)ctC>ctT	p.L639L	TECTA_ENST00000264037.2_Silent_p.L639L			O75443	TECTA_HUMAN	tectorin alpha	639	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCTTCGTCCTCAGCACCAGCC	0.657													22	69					0	0	0	0	T	120998603	C	T	120998603	2	4	263	1	0	0	0	0	0	0	0	1	15841	813	29	2		2	TECTA	11	120998603	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	31054190	120998603	14007913	114	46973											
SORL1	6653	broad.mit.edu	37	chr11	121348887	121348887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcagacaagttaaactttGgcttgggaaataggagtgaa	14	12	11	4	0	1	2	1	1	0	1	1	4	1	4	0	3	1	2	0	3	6	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr11:121348887G>A	ENST00000260197.7	+	3	592	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	155					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTTAAACTTTGGCTTGGGAAA	0.453													13	41					0	0	0	0	A	121348887	G	A	121348887	3	1	263	1	0	0	0	0	1	0	0	0	15022	1348	47	4	473	4	SORL1	11	121348887	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	350284	121348887	13657629	115	46974											
ACVR1B	91	broad.mit.edu	37	chr12	52380658	52380658	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgaaacactttgactcctTtaaatgtgctgatatttatg	12	17	6	6	0	0	3	0	3	0	0	1	3	1	3	1	0	2	1	1	0	6	7			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:52380658T>G	ENST00000257963.4	+	7	1270	c.1193T>G	c.(1192-1194)tTt>tGt	p.F398C	ACVR1B_ENST00000426655.2_Missense_Mutation_p.F398C|ACVR1B_ENST00000415850.2_Missense_Mutation_p.F398C|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000542485.1_Missense_Mutation_p.F346C|ACVR1B_ENST00000541224.1_Missense_Mutation_p.F439C	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	398	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TTTGACTCCTTTAAATGTGCT	0.408													33	84					0	0	0	0	G	52380658	T	G	52380658	3	3	263	1	0	0	0	0	1	0	0	0	221	1841	64	5	1346	5	ACVR1B	12	52380658	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08		52380658	81471237	116	46975											
AMHR2	269	broad.mit.edu	37	chr12	53823690	53823690	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattggggcatggccctcCgacgagctgatatttactct	8	11	12	10	2	1	1	0	1	1	0	2	4	2	2	2	4	2	2	2	4	2	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:53823690C>T	ENST00000257863.4	+	9	1296	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	AMHR2_ENST00000379791.3_Intron|AMHR2_ENST00000550311.1_Nonsense_Mutation_p.R406*	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	406	Protein kinase.		R -> Q (in PMDS2).		Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CATGGCCCTCCGACGAGCTGA	0.582													16	47					0	0	0	0	T	53823690	C	T	53823690	4	4	263	1	0	0	0	0	0	1	0	0	573	644	23	1	1250	1	AMHR2	12	53823690	Nonsense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	1443032	53823690	80028205	117	46976											
IRAK3	11213	broad.mit.edu	37	chr12	66639014	66639014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccggtgtgctgcaacgcGggcaaagttaagaccatcaa	12	6	13	10	3	1	1	1	0	0	1	1	1	1	1	2	3	3	4	2	3	4	1	rs140671957		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:66639014G>A	ENST00000261233.4	+	11	1707	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	IRAK3_ENST00000457197.2_Missense_Mutation_p.R368Q	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	429	Protein kinase.		R -> Q (may be associated with ASRT5).		interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GCTGCAACGCGGGCAAAGTTA	0.438													31	87					0	0	0	0	A	66639014	G	A	66639014	3	1	263	1	0	0	0	0	1	0	0	0	7877	1116	39	1	1328	1	IRAK3	12	66639014	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	12815324	66639014	67212881	118	46977											
C12orf74	338809	broad.mit.edu	37	chr12	93100819	93100819	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatctccctcctgagcttCagcctgtcaatgaagggtcc	8	11	9	13	0	3	2	2	2	1	0	6	2	5	2	4	1	2	2	4	1	3	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:93100819C>T	ENST00000544406.2	+	2	678	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	C12orf74_ENST00000397833.3_Nonsense_Mutation_p.Q138*			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	138										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						TCCTGAGCTTCAGCCTGTCAA	0.582													12	50					0	0	0	0	T	93100819	C	T	93100819	4	4	263	1	0	0	0	0	0	1	0	0	1726	827	29	2	414	2	C12orf74	12	93100819	Nonsense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	26461805	93100819	40751076	119	46978											
KNTC1	9735	broad.mit.edu	37	chr12	123078827	123078827	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttttatttctagatttCttttcaaccagttttcaggc	7	22	4	8	0	5	1	2	0	3	1	5	1	5	1	1	1	1	1	1	1	3	11			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:123078827C>G	ENST00000333479.7	+	43	4427	c.4250C>G	c.(4249-4251)tCt>tGt	p.S1417C	KNTC1_ENST00000545065.1_3'UTR|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1417					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCTAGATTTCTTTTCAACCA	0.343													21	54					0	0	0	0	G	123078827	C	G	123078827	3	3	263	1	0	0	0	0	1	0	0	0	8480	913	32	2	4416	2	KNTC1	12	123078827	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	29978008	123078827	10773068	120	46979											
VPS37B	79720	broad.mit.edu	37	chr12	123355461	123355461	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttggtcttctttatctgatAggcttcaaagagaacctgga	10	15	9	7	0	4	2	1	1	3	1	4	4	4	3	1	3	1	1	1	3	4	6			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:123355461A>C	ENST00000267202.2	-	2	640	c.259T>G	c.(259-261)Tat>Gat	p.Y87D		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	87	Interaction with IST1.|VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TTTATCTGATAGGCTTCAAAG	0.448													24	79					0	0	0	0	C	123355461	A	C	123355461	3	2	263	1	0	0	0	0	1	0	0	0	17302	420	15	5	610	5	VPS37B	12	123355461	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	276634	123355461	10496434	121	46980											
RIMBP2	23504	broad.mit.edu	37	chr12	130921797	130921797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagccgcacaagctccaCggccgtgctgtctgccgtgg	5	6	13	17	5	1	0	0	0	1	0	2	0	2	0	5	2	4	4	5	2	1	0			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:130921797C>T	ENST00000261655.4	-	10	1808	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	RIMBP2_ENST00000535703.1_Missense_Mutation_p.V457M|RIMBP2_ENST00000536002.1_Missense_Mutation_p.V457M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	549	Fibronectin type-III 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACAAGCTCCACGGCCGTGCTG	0.692													5	4					0	0	0	0	T	130921797	C	T	130921797	3	4	263	1	0	0	0	0	1	0	0	0	13446	536	19	1	1553	1	RIMBP2	12	130921797	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	7566336	130921797	2930098	122	46981											
RIMBP2	23504	broad.mit.edu	37	chr12	130934748	130934748	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaggggccgcacttacctaTagcgggcaacacagaggtgg	10	5	15	11	3	0	1	0	0	0	1	0	2	0	1	2	5	3	2	2	5	4	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr12:130934748T>C	ENST00000261655.4	-	6	690	c.527A>G	c.(526-528)tAt>tGt	p.Y176C	RIMBP2_ENST00000535703.1_Missense_Mutation_p.Y84C|RIMBP2_ENST00000536002.1_Missense_Mutation_p.Y84C	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	176	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CACTTACCTATAGCGGGCAAC	0.562													4	7					0	0	0	0	C	130934748	T	C	130934748	3	2	263	1	0	0	0	0	1	0	0	0	13446	1406	49	5	2687	5	RIMBP2	12	130934748	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	12951	130934748	2917147	123	46982											
DGKH	160851	broad.mit.edu	37	chr13	42783488	42783488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccgtacagtgaaaatcactAtatttggtgacgaaggagtc	13	10	11	7	2	1	2	1	2	0	0	2	4	1	3	1	2	1	1	1	2	6	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr13:42783488A>G	ENST00000379274.2	+	23	2758	c.2329A>G	c.(2329-2331)Ata>Gta	p.I777V	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.I777V|DGKH_ENST00000337343.4_Missense_Mutation_p.I913V|DGKH_ENST00000261491.4_Missense_Mutation_p.I913V|DGKH_ENST00000540693.1_Missense_Mutation_p.I913V|DGKH_ENST00000538674.1_Missense_Mutation_p.I668V			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	913					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GAAAATCACTATATTTGGTGA	0.393													10	38					0	0	0	0	G	42783488	A	G	42783488	3	3	263	1	0	0	0	0	1	0	0	0	4507	449	16	5	2827	5	DGKH	13	42783488	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08		42783488	72386390	124	46983											
SLITRK6	84189	broad.mit.edu	37	chr13	86370532	86370532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattgtgccatctttttcctCacaattgcaaagagaatcac	12	13	5	11	0	3	1	2	0	1	1	4	2	4	1	2	0	2	1	2	0	3	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr13:86370532C>T	ENST00000400286.2	-	2	710	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	38	LRRNT 1.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCTTTTTCCTCACAATTGCAA	0.398													4	51					0	0	0	0	T	86370532	C	T	86370532	3	4	263	1	0	0	0	0	1	0	0	0	14835	835	29	2	2417	2	SLITRK6	13	86370532	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	43587044	86370532	28799346	125	46984											
MYO16	23026	broad.mit.edu	37	chr13	109699324	109699324	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actccctttcacagaatcttCtatttgtaatgaaaagtaag	14	14	5	8	0	3	2	1	1	2	1	4	2	4	2	1	0	0	2	1	0	6	6			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr13:109699324C>G	ENST00000356711.2	+	24	2917	c.2791C>G	c.(2791-2793)Cta>Gta	p.L931V	MYO16_ENST00000251041.5_Missense_Mutation_p.L931V|MYO16_ENST00000457511.2_Missense_Mutation_p.L443V|MYO16_ENST00000357550.2_Missense_Mutation_p.L931V	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	931	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACAGAATCTTCTATTTGTAAT	0.313													14	46					0	0	0	0	G	109699324	C	G	109699324	3	3	263	1	0	0	0	0	1	0	0	0	10134	912	32	2	2881	2	MYO16	13	109699324	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	23328792	109699324	5470554	126	46985											
MDGA2	161357	broad.mit.edu	37	chr14	47566080	47566080	+	Frame_Shift_Del	DEL	T	T	-																															tcacaatgatgttggtggacTtttttgcagggtttcccaca																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr14:47566080delT	ENST00000426342.1	-	6	1024	c.278delA	c.(277-279)agfs	p.K93fs	MDGA2_ENST00000439988.2_Frame_Shift_Del_p.K322fs|MDGA2_ENST00000357362.3_Frame_Shift_Del_p.K93fs|MDGA2_ENST00000399232.2_Frame_Shift_Del_p.K391fs	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	322	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTTGGTGGACTTTTTTGCAGG	0.393													25	104	---	---	---	---					-	47566080	T	-	47566080	7	5	263	1	0	1	0	1	0	0	0	0	9476	1609	56	0	1953	0	MDGA2	14	47566080	Frame_Shift_Del	DEL	T	TCGA-CV-6952-01A-11D-1912-08		47566080	59783460	127	46986											
PTPN21	11099	broad.mit.edu	37	chr14	88945670	88945670	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggattagcatggtggcgtccGacagggacttcttatggccg	7	10	15	9	3	1	0	0	0	1	0	2	3	2	2	2	5	1	1	2	5	2	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr14:88945670G>C	ENST00000556564.1	-	13	2389	c.2105C>G	c.(2104-2106)tCg>tGg	p.S702W	PTPN21_ENST00000328736.3_Missense_Mutation_p.S702W	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	702						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGTGGCGTCCGACAGGGACTT	0.672													15	49					0	0	0	0	C	88945670	G	C	88945670	3	2	263	1	0	0	0	0	1	0	0	0	12868	1059	37	3	1447	3	PTPN21	14	88945670	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	41379590	88945670	18403870	128	46987											
GPR68	8111	broad.mit.edu	37	chr14	91700861	91700861	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atggcgcgctgccatgcctgGatggggtagtgctcaaagca	8	8	15	10	2	1	0	1	0	0	0	1	1	1	1	2	4	4	4	2	4	2	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr14:91700861G>C	ENST00000535815.1	-	2	874	c.534C>G	c.(532-534)atC>atG	p.I178M	GPR68_ENST00000238699.3_Missense_Mutation_p.I188M|GPR68_ENST00000531499.2_Missense_Mutation_p.I178M	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	178					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GCCATGCCTGGATGGGGTAGT	0.622													3	18					0	0	0	0	C	91700861	G	C	91700861	3	2	263	1	0	0	0	0	1	0	0	0	6756	1164	41	2	567	2	GPR68	14	91700861	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	2755191	91700861	15648679	129	46988											
BAG5	9529	broad.mit.edu	37	chr14	104028278	104028278	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtccacaatggcctaaTgcacgtttcaagctcttggt	9	11	11	10	1	2	0	1	0	1	0	3	1	3	1	2	3	2	3	2	3	3	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr14:104028278T>C	ENST00000337322.4	-	1	357	c.67A>G	c.(67-69)Att>Gtt	p.I23V	BAG5_ENST00000445922.2_Intron|BAG5_ENST00000299204.4_Intron	NM_001015049.2	NP_001015049.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	0	BAG 1.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			AATGGCCTAATGCACGTTTCA	0.493													5	46					0	0	0	0	C	104028278	T	C	104028278	3	2	263	1	0	0	0	0	1	0	0	0	1294	1464	51	5	1407	5	BAG5	14	104028278	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	12327417	104028278	3321262	130	46989											
CASC5	57082	broad.mit.edu	37	chr15	40951562	40951562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttttattctctagctccGcagcatttgcaaagtttgaa	10	15	7	9	1	1	1	0	1	1	0	3	2	2	1	1	0	3	5	1	0	4	6			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr15:40951562G>A	ENST00000346991.5	+	26	7207	c.6817G>A	c.(6817-6819)Gca>Aca	p.A2273T	CASC5_ENST00000399668.2_Missense_Mutation_p.A2247T			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2273	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTCTAGCTCCGCAGCATTTGC	0.333													20	39					0	0	0	0	A	40951562	G	A	40951562	3	1	263	1	0	0	0	0	1	0	0	0	2688	1087	38	1	6915	1	CASC5	15	40951562	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08		40951562	61579830	131	46990											
USP8	9101	broad.mit.edu	37	chr15	50769638	50769638	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttgaaccagttgctgcttCtaaatctgatgtttcaccca	10	14	7	10	0	3	2	1	2	2	0	3	2	3	2	2	0	3	5	2	0	3	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr15:50769638C>G	ENST00000433963.1	+	11	1660	c.1160C>G	c.(1159-1161)tCt>tGt	p.S387C	USP8_ENST00000307179.4_Missense_Mutation_p.S387C|USP8_ENST00000425032.3_Missense_Mutation_p.S310C|USP8_ENST00000396444.3_Missense_Mutation_p.S387C	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	387					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GTTGCTGCTTCTAAATCTGAT	0.343													23	43					0	0	0	0	G	50769638	C	G	50769638	3	3	263	1	0	0	0	0	1	0	0	0	17185	913	32	2	1194	2	USP8	15	50769638	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	9818076	50769638	51761754	132	46991											
ADAMTS7	11173	broad.mit.edu	37	chr15	79058842	79058842	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggggtggggagcggccGgcctggctaggccaagggct	4	5	23	9	2	0	0	0	0	0	0	0	1	0	1	3	10	1	2	3	10	2	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr15:79058842G>A	ENST00000388820.4	-	19	3621	c.3411C>T	c.(3409-3411)gcC>gcT	p.A1137A		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1137					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGGAGCGGCCGGCCTGGCTAG	0.677													3	15					0	0	0	0	A	79058842	G	A	79058842	2	1	263	1	0	0	0	0	0	0	0	1	271	1103	39	1		1	ADAMTS7	15	79058842	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08	28289204	79058842	23472550	133	46992											
SV2B	9899	broad.mit.edu	37	chr15	91835756	91835756	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgattgcccttcgactgccaGagactcgagaacaggtcctg	9	9	11	12	2	0	3	0	1	0	2	3	6	1	3	3	1	3	0	3	1	1	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr15:91835756G>C	ENST00000394232.1	+	13	2496	c.2026G>C	c.(2026-2028)Gag>Cag	p.E676Q	SV2B_ENST00000545111.2_Missense_Mutation_p.E525Q|SV2B_ENST00000330276.4_Missense_Mutation_p.E676Q	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	676					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.E676Q(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCGACTGCCAGAGACTCGAGA	0.507													31	82					0	0	0	0	C	91835756	G	C	91835756	3	2	263	1	0	0	0	0	1	0	0	0	15508	943	33	2	2072	2	SV2B	15	91835756	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	12776914	91835756	10695636	134	46993											
LYSMD4	145748	broad.mit.edu	37	chr15	100269526	100269526	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaaataaaagacaggcaaGacaataccaatcagcagcat	21	4	6	10	0	1	2	1	0	0	2	1	2	1	2	2	1	3	3	2	1	7	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr15:100269526G>A	ENST00000545021.1	-	4	1129	c.315C>T	c.(313-315)gtC>gtT	p.V105V	LYSMD4_ENST00000409796.1_Silent_p.V231V|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Silent_p.V231V|LYSMD4_ENST00000344791.2_Silent_p.V232V			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	231					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			AGACAGGCAAGACAATACCAA	0.478													44	142					0	0	0	0	A	100269526	G	A	100269526	2	1	263	1	0	0	0	0	0	0	0	1	9192	929	33	2		2	LYSMD4	15	100269526	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08	8433770	100269526	2261866	135	46994											
UBE2I	7329	broad.mit.edu	37	chr16	1370539	1370539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagtagcagccctggcccCgctggtggcagctcctcccc	4	8	12	17	1	0	0	0	0	0	0	2	0	2	0	6	3	3	6	6	3	2	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr16:1370539C>T	ENST00000402301.1	+	5	470	c.434C>T	c.(433-435)cCg>cTg	p.P145L	UBE2I_ENST00000325437.5_Intron|UBE2I_ENST00000355803.4_Intron|UBE2I_ENST00000566587.1_Intron|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000397515.2_Intron|UBE2I_ENST00000406620.1_Intron|UBE2I_ENST00000397514.3_Intron|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000403747.2_Intron			P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	0					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GCCCTGGCCCCGCTGGTGGCA	0.582													5	50					0	0	0	0	T	1370539	C	T	1370539	3	4	263	1	0	0	0	0	1	0	0	0	16955	667	23	1		1	UBE2I	16	1370539	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08		1370539	88984214	136	46995											
ZFP1	162239	broad.mit.edu	37	chr16	75204123	75204123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactcttagattacacttgcGaatccacacaggagagaaac	16	8	7	10	1	1	2	0	0	1	2	2	5	2	3	1	1	4	0	1	1	5	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr16:75204123G>A	ENST00000393430.2	+	4	1239	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	ZFP1_ENST00000332307.4_Missense_Mutation_p.R339Q|ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.R372Q|ZFP1_ENST00000464850.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R372Q(1)		endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						TTACACTTGCGAATCCACACA	0.473													7	55					0	0	0	0	A	75204123	G	A	75204123	3	1	263	1	0	0	0	0	1	0	0	0	17731	1058	37	1	1125	1	ZFP1	16	75204123	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	73833584	75204123	15150630	137	46996											
CHST6	4166	broad.mit.edu	37	chr16	75513142	75513142	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcaccaggtgcacgatgcgTaggttgagcgcggggtcgct	6	7	17	11	6	0	1	0	1	0	0	1	2	0	1	1	4	3	5	1	4	1	2	rs138994371		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr16:75513142T>C	ENST00000332272.4	-	3	764	c.585A>G	c.(583-585)ctA>ctG	p.L195L	CHST6_ENST00000390664.2_Silent_p.L195L|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	195					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCACGATGCGTAGGTTGAGCG	0.687													11	44					0	0	0	0	C	75513142	T	C	75513142	2	2	263	1	0	0	0	0	0	0	0	1	3437	1625	57	5		5	CHST6	16	75513142	Silent	SNP	T	TCGA-CV-6952-01A-11D-1912-08	309019	75513142	14841611	138	46997											
MBTPS1	8720	broad.mit.edu	37	chr16	84104310	84104310	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtagcccgaccaaggccaTaagaccgaggagtaggagaa	15	3	14	9	2	0	2	0	0	0	2	0	6	0	3	4	4	1	2	4	4	5	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr16:84104310T>C	ENST00000343411.3	-	13	2160	c.1665A>G	c.(1663-1665)ttA>ttG	p.L555L		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	555					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACCAAGGCCATAAGACCGAGG	0.522													16	73					0	0	0	0	C	84104310	T	C	84104310	2	2	263	1	0	0	0	0	0	0	0	1	9430	1403	49	5		5	MBTPS1	16	84104310	Silent	SNP	T	TCGA-CV-6952-01A-11D-1912-08	8591168	84104310	6250443	139	46998											
ABR	29	broad.mit.edu	37	chr17	914076	914077	+	In_Frame_Ins	INS	-	-	TCA																															ggcgttgatgtccatgtcacINStcagcatcagcaggatgtcc																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:914076_914077insTCA	ENST00000544583.2	-	20	2589_2590	c.1990_1991insTGA	c.(1990-1992)tga>TGAtga	p.664_664*>**	ABR_ENST00000291107.2_In_Frame_Ins_p.673_673*>**|ABR_ENST00000572441.1_Intron|ABR_ENST00000302538.5_In_Frame_Ins_p.710_710*>**|ABR_ENST00000543210.2_In_Frame_Ins_p.161_161*>**|ABR_ENST00000536794.2_In_Frame_Ins_p.492_492*>**|ABR_ENST00000574437.1_In_Frame_Ins_p.664_664*>**	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	710	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	p.S710delS(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GTCCATGTCACTCAGCATCAGC	0.634													69	93	---	---	---	---					TCA	914077	-	TCA	914076	7	5	263	1	0	1	1	0	0	0	0	0	99	565	20	0	466	0	ABR	17	914076	In_Frame_Ins	INS	-	TCGA-CV-6952-01A-11D-1912-08		914076	80281134	140	46999											
ZFP3	124961	broad.mit.edu	37	chr17	4994843	4994843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattcccaaggaagaaatttCtgaagaatctgagccacatg	15	9	9	8	0	2	4	0	2	2	2	3	6	3	5	2	1	1	0	2	1	5	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:4994843C>T	ENST00000318833.3	+	2	380	c.44C>T	c.(43-45)tCt>tTt	p.S15F		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAAGAAATTTCTGAAGAATCT	0.403													16	15					0	0	0	0	T	4994843	C	T	4994843	3	4	263	1	0	0	0	0	1	0	0	0	17738	913	32	2	46	2	ZFP3	17	4994843	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	4080767	4994843	76200367	141	47000											
TP53	7157	broad.mit.edu	37	chr17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctcccaggacaggcaCaaacacgcacctcaaagctg	12	5	9	15	1	2	0	1	0	1	0	4	1	3	1	2	3	2	3	2	3	2	0			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:7577114C>A	ENST00000420246.2	-	8	956	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGACAGGCACAAACACGCAC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	18					1.52009e-12	1.83649e-12	1	0	A	7577114	C	A	7577114	3	1	263	1	0	0	0	0	1	0	0	0	16476	478	17	4	462	4	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	2582271	7577114	73618096	142	47001											
ZNF286A	57335	broad.mit.edu	37	chr17	15619477	15619477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagactgacacggaatagtGtctatgactctaacttggaa	14	10	9	8	1	2	3	0	2	2	1	2	5	2	5	0	2	1	0	0	2	5	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:15619477G>T	ENST00000464847.2	+	5	992	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000593105.1_Missense_Mutation_p.V137F|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000413242.2_Missense_Mutation_p.V147F|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000583566.1_Missense_Mutation_p.V147F|ZNF286A_ENST00000421016.1_Missense_Mutation_p.V147F			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		ACGGAATAGTGTCTATGACTC	0.403													19	20					3.62473e-10	4.30135e-10	1	0	T	15619477	G	T	15619477	3	4	263	1	0	0	0	0	1	0	0	0	17918	1377	48	4	457	4	ZNF286A	17	15619477	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	8042363	15619477	65575733	143	47002											
WIPF2	147179	broad.mit.edu	37	chr17	38433351	38433351	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagatgattttgagtcaaaGtattccttccatccagtaga	12	13	8	8	0	1	4	1	2	0	2	4	4	4	4	3	0	0	3	3	0	3	6			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:38433351G>C	ENST00000323571.4	+	7	1437	c.1197G>C	c.(1195-1197)aaG>aaC	p.K399N	WIPF2_ENST00000585043.1_Missense_Mutation_p.K399N|WIPF2_ENST00000583130.1_Missense_Mutation_p.K399N|WIPF2_ENST00000394103.3_Missense_Mutation_p.K141N|WIPF2_ENST00000536600.1_Missense_Mutation_p.K141N|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	399						cytoplasm|cytoskeleton	actin binding	p.K399N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TTGAGTCAAAGTATTCCTTCC	0.413										HNSCC(43;0.11)			20	78					0	0	0	0	C	38433351	G	C	38433351	3	2	263	1	0	0	0	0	1	0	0	0	17464	1020	36	4	1219	4	WIPF2	17	38433351	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	22813874	38433351	42761859	144	47003											
GFAP	2670	broad.mit.edu	37	chr17	42992693	42992693	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcattgagtgccccagcCagggagaaatccacccgggt	10	5	12	14	1	0	2	0	1	0	1	1	3	1	2	6	2	3	1	6	2	1	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:42992693C>T	ENST00000253408.5	-	1	227	c.162G>A	c.(160-162)ctG>ctA	p.L54L	GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.L54L|GFAP_ENST00000435360.2_Silent_p.L54L	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	54	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GTGCCCCAGCCAGGGAGAAAT	0.657													18	40					0	0	0	0	T	42992693	C	T	42992693	2	4	263	1	0	0	0	0	0	0	0	1	6388	581	21	4		4	GFAP	17	42992693	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	4559342	42992693	38202517	145	47004											
TTLL6	284076	broad.mit.edu	37	chr17	46862375	46862375	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctccaacttcgagctgctGagattgatattcctcagatc	9	12	9	11	1	1	3	1	2	0	2	5	5	3	3	2	1	3	3	2	1	2	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:46862375G>A	ENST00000393382.3	-	13	2091	c.1950C>T	c.(1948-1950)ctC>ctT	p.L650L	TTLL6_ENST00000433608.2_Silent_p.L343L	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	602						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCGAGCTGCTGAGATTGATAT	0.537													72	121					0	0	0	0	A	46862375	G	A	46862375	2	1	263	1	0	0	0	0	0	0	0	1	16827	1277	45	2		2	TTLL6	17	46862375	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08	3869682	46862375	34332835	146	47005											
BAHCC1	57597	broad.mit.edu	37	chr17	79410170	79410170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgccatggccatcagcgagGagcgcaaggctggcgcctac	8	4	14	15	4	1	0	1	0	0	0	1	2	1	1	4	4	3	2	4	4	2	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr17:79410170G>A	ENST00000307745.7	+	9	1795	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K																								CATCAGCGAGGAGCGCAAGGC	0.706													11	30					0	0	0	0	A	79410170	G	A	79410170	3	1	263	1	0	0	0	0	1	0	0	0	1300	1175	41	2	1644	2	BAHCC1	17	79410170	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	32547795	79410170	1785040	147	47006											
EPB41L3	23136	broad.mit.edu	37	chr18	5397422	5397422	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggactccgtcttggtttccaTtttctgcatgggaagagatt	7	15	11	8	1	2	1	0	0	2	1	4	4	4	3	2	3	1	2	2	3	1	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr18:5397422T>C	ENST00000341928.2	-	18	2816	c.2476A>G	c.(2476-2478)Atg>Gtg	p.M826V	EPB41L3_ENST00000427684.2_Missense_Mutation_p.M123V|EPB41L3_ENST00000544123.1_Missense_Mutation_p.M657V|EPB41L3_ENST00000540638.2_Missense_Mutation_p.M604V|EPB41L3_ENST00000400111.3_Missense_Mutation_p.M604V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.M826V|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.M131V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	826	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTGGTTTCCATTTTCTGCATG	0.517													32	82					0	0	0	0	C	5397422	T	C	5397422	3	2	263	1	0	0	0	0	1	0	0	0	5192	1493	52	5	807	5	EPB41L3	18	5397422	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08		5397422	72679826	148	47007											
DSG3	1830	broad.mit.edu	37	chr18	29055986	29055986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccagccagctgtttcCatccctgaccctctgcagca	6	11	7	17	0	2	1	0	1	2	0	5	1	5	1	5	0	4	4	5	0	0	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr18:29055986C>T	ENST00000257189.4	+	16	2846	c.2763C>T	c.(2761-2763)tcC>tcT	p.S921S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	921					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGCTGTTTCCATCCCTGACC	0.507													22	70					0	0	0	0	T	29055986	C	T	29055986	2	4	263	1	0	0	0	0	0	0	0	1	4814	581	21	4		4	DSG3	18	29055986	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	23658564	29055986	49021262	149	47008											
TCEB3C	162699	broad.mit.edu	37	chr18	44555158	44555158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaccccttccacgtcgccGagggcgtccggattgttcct	4	9	13	15	5	0	0	0	0	0	0	4	3	3	2	6	3	0	1	6	3	0	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr18:44555158G>A	ENST00000330682.2	-	1	1291	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	352	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.L352L(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CCACGTCGCCGAGGGCGTCCG	0.652													11	1102					0	0	0	0	A	44555158	G	A	44555158	2	1	263	1	0	0	0	0	0	0	0	1	15777	1045	37	1		1	TCEB3C	18	44555158	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08	15499172	44555158	33522090	150	47009											
NETO1	81832	broad.mit.edu	37	chr18	70461478	70461478	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccatctcaaactcacaCgctaaataacaaaatgccaa	17	6	3	15	2	2	0	2	0	1	0	3	0	2	0	3	0	3	1	3	0	7	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr18:70461478C>T	ENST00000327305.6	-	6	1170	c.511_splice	c.e6-1	p.A171_splice	NETO1_ENST00000299430.2_Splice_Site_p.A170_splice|NETO1_ENST00000583169.1_Splice_Site_p.A171_splice	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	171					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.A171A(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAAACTCACACGCTAAATAAC	0.388													19	61					0	0	0	0	T	70461478	C	T	70461478	5	4	263	1	0	0	0	0	0	0	1	0	10409	550	19	1	1108	1	NETO1	18	70461478	Splice_Site	SNP	C	TCGA-CV-6952-01A-11D-1912-08	25906320	70461478	7615770	151	47010											
ZNF345	25850	broad.mit.edu	37	chr19	37368294	37368294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctttagttttgaatcaGcccttattcggcatcacaga	10	14	7	10	1	2	2	2	1	0	1	4	2	3	2	2	1	1	2	2	1	3	6			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:37368294G>A	ENST00000529555.1	+	2	1350	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	ZNF345_ENST00000589046.1_Missense_Mutation_p.A188T|ZNF345_ENST00000420450.1_Missense_Mutation_p.A188T|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	188					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTGAATCAGCCCTTATTCG	0.413													22	41					0	0	0	0	A	37368294	G	A	37368294	3	1	263	1	0	0	0	0	1	0	0	0	17954	971	34	4	564	4	ZNF345	19	37368294	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08		37368294	21760689	152	47011											
HNRNPL	3191	broad.mit.edu	37	chr19	39336360	39336360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggccacaaggattacagaTagtgtaaagaacatcctgca	16	7	10	8	0	0	2	0	0	0	2	1	3	1	3	2	2	3	2	2	2	6	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:39336360T>C	ENST00000221419.5	-	4	1006	c.640A>G	c.(640-642)Atc>Gtc	p.I214V	HNRNPL_ENST00000600873.1_Missense_Mutation_p.I81V	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	214	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGATTACAGATAGTGTAAAGA	0.478													13	44					0	0	0	0	C	39336360	T	C	39336360	3	2	263	1	0	0	0	0	1	0	0	0	7320	1406	49	5	1169	5	HNRNPL	19	39336360	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	1968066	39336360	19792623	153	47012											
ZNF222	7673	broad.mit.edu	37	chr19	44536636	44536636	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagcttctgtcttaggtCaagtcttaataggcattgca	11	14	9	7	0	4	1	1	0	3	1	4	1	4	1	0	2	2	3	0	2	5	6			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:44536636C>A	ENST00000187879.8	+	4	971	c.809C>A	c.(808-810)tCa>tAa	p.S270*	ZNF222_ENST00000391960.3_Nonsense_Mutation_p.S310*|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TGTCTTAGGTCAAGTCTTAAT	0.393													34	97					9.04072e-19	1.10728e-18	1	0	A	44536636	C	A	44536636	4	1	263	1	0	0	0	0	0	1	0	0	17871	838	29	2	962	2	ZNF222	19	44536636	Nonsense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	5200276	44536636	14592347	154	47013											
HIF3A	64344	broad.mit.edu	37	chr19	46828852	46828852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagactcttcacctccGggaaagacactgaggcagtg	11	7	11	12	1	2	3	1	1	1	2	3	4	3	4	2	2	1	2	2	2	1	1	rs139513428		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:46828852G>A	ENST00000339613.2	+	11	1483	c.1228G>A	c.(1228-1230)Ggg>Agg	p.G410R	HIF3A_ENST00000472815.1_Missense_Mutation_p.G397R|HIF3A_ENST00000377670.4_Missense_Mutation_p.G466R|HIF3A_ENST00000300862.3_Missense_Mutation_p.G464R|HIF3A_ENST00000600383.1_Missense_Mutation_p.G397R|HIF3A_ENST00000244303.6_Missense_Mutation_p.G397R|HIF3A_ENST00000420102.2_Missense_Mutation_p.G415R|AC007193.10_ENST00000596807.1_RNA			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.G464R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTTCACCTCCGGGAAAGACAC	0.507													45	129					0	0	0	0	A	46828852	G	A	46828852	3	1	263	1	0	0	0	0	1	0	0	0	7155	1116	39	1	1462	1	HIF3A	19	46828852	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	2292216	46828852	12300131	155	47014											
EMP3	2014	broad.mit.edu	37	chr19	48830823	48830823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtccctgaatctctggtacGactgcacgtggaacaacgac	11	8	10	12	3	1	1	0	1	1	0	3	4	2	2	1	2	4	2	1	2	4	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:48830823G>A	ENST00000270221.6	+	3	425	c.124G>A	c.(124-126)Gac>Aac	p.D42N	EMP3_ENST00000597279.1_Missense_Mutation_p.D42N|EMP3_ENST00000596315.1_5'UTR	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	42					cell growth|negative regulation of cell proliferation	integral to membrane				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TCTCTGGTACGACTGCACGTG	0.562													7	32					0	0	0	0	A	48830823	G	A	48830823	3	1	263	1	0	0	0	0	1	0	0	0	5141	1058	37	1	130	1	EMP3	19	48830823	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	2001971	48830823	10298160	156	47015											
SLC6A16	28968	broad.mit.edu	37	chr19	49813315	49813315	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaagccactagagttcaTcgttaagggacatttctccc	12	10	7	12	1	2	1	1	0	1	1	4	2	2	2	3	1	1	2	3	1	3	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:49813315T>A	ENST00000454748.3	-	4	883	c.682A>T	c.(682-684)Atg>Ttg	p.M228L	SLC6A16_ENST00000335875.4_Missense_Mutation_p.M228L			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	228						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CTAGAGTTCATCGTTAAGGGA	0.468													28	61					0	0	0	0	A	49813315	T	A	49813315	3	1	263	1	0	0	0	0	1	0	0	0	14767	1435	50	5	1564	5	SLC6A16	19	49813315	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	982492	49813315	9315668	157	47016											
ZNF616	90317	broad.mit.edu	37	chr19	52619980	52619980	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagttcagccagacgtGactcaaagtttgatgtaagc	11	11	10	9	1	3	3	2	2	1	1	3	3	3	3	1	0	3	4	1	0	2	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:52619980G>T	ENST00000600228.1	-	4	698	c.437C>A	c.(436-438)tCa>tAa	p.S146*	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGCCAGACGTGACTCAAAGTT	0.383													35	122					9.04072e-19	1.10728e-18	1	0	T	52619980	G	T	52619980	4	4	263	1	0	0	0	0	0	1	0	0	18136	1294	45	2	1912	2	ZNF616	19	52619980	Nonsense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	2806665	52619980	6509003	158	47017											
NLRP4	147945	broad.mit.edu	37	chr19	56388492	56388492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggtgtgcagctgttgtgtCgggctctgacgcatacggat	5	12	16	8	3	1	1	0	1	1	0	2	2	1	2	0	3	3	5	0	3	1	2	rs147716168		TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:56388492C>T	ENST00000301295.6	+	8	3078	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	NLRP4_ENST00000346986.5_Missense_Mutation_p.R830W|NLRP4_ENST00000587891.1_Missense_Mutation_p.R811W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	886							ATP binding	p.R886W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTGTTGTGTCGGGCTCTGAC	0.498													38	108					0	0	0	0	T	56388492	C	T	56388492	3	4	263	1	0	0	0	0	1	0	0	0	10549	875	31	1	2682	1	NLRP4	19	56388492	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	3768512	56388492	2740491	159	47018											
PEG3	5178	broad.mit.edu	37	chr19	57325894	57325894	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtactcatagggctcatTcttatgaacagttacgtgat	10	13	8	10	2	3	2	2	2	1	0	3	2	3	2	1	1	3	3	1	1	5	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr19:57325894T>G	ENST00000326441.9	-	10	4279	c.3916A>C	c.(3916-3918)Aat>Cat	p.N1306H	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.N1306H|PEG3_ENST00000593695.1_Missense_Mutation_p.N1180H|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.N1182H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1306					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N1306H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAGGGCTCATTCTTATGAACA	0.448													18	52					0	0	0	0	G	57325894	T	G	57325894	3	3	263	1	0	0	0	0	1	0	0	0	11791	1783	62	5	854	5	PEG3	19	57325894	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	937402	57325894	1803089	160	47019											
VPS16	64601	broad.mit.edu	37	chr20	2844895	2844895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagaggagcaaactggCactaagcaaggccatcgaga	16	4	13	8	1	0	3	0	1	0	2	1	6	0	4	1	3	3	3	1	3	4	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr20:2844895C>T	ENST00000380445.3	+	17	1754	c.1682C>T	c.(1681-1683)gCa>gTa	p.A561V	VPS16_ENST00000380469.3_Missense_Mutation_p.A417V|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380443.3_Missense_Mutation_p.A247V	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	561					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGCAAACTGGCACTAAGCAAG	0.602													14	41					0	0	0	0	T	2844895	C	T	2844895	3	4	263	1	0	0	0	0	1	0	0	0	17289	710	25	4	1748	4	VPS16	20	2844895	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08		2844895	60180625	161	47020											
CABIN1	23523	broad.mit.edu	37	chr22	24432587	24432587	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accattgaggatgatcatgaAggaagctttaaaagtcacaa	17	9	9	6	0	2	3	2	3	0	0	2	5	2	5	1	2	1	1	1	2	5	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:24432587A>G	ENST00000398319.2	+	3	439	c.54A>G	c.(52-54)gaA>gaG	p.E18E	CABIN1_ENST00000263119.5_Silent_p.E18E|CABIN1_ENST00000405822.2_Silent_p.E18E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	18					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGATCATGAAGGAAGCTTTA	0.453													76	174					0	0	0	0	G	24432587	A	G	24432587	2	3	263	1	0	0	0	0	0	0	0	1	2553	69	3	5		5	CABIN1	22	24432587	Silent	SNP	A	TCGA-CV-6952-01A-11D-1912-08		24432587	26871979	162	47021											
DNAJB7	150353	broad.mit.edu	37	chr22	41257490	41257490	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaagccagggaagagaaaGaagtaaggccttcatgcccc	16	4	11	10	0	1	2	1	0	0	2	1	4	1	3	4	2	2	1	4	2	6	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:41257490G>C	ENST00000307221.4	-	1	640	c.509C>G	c.(508-510)tCt>tGt	p.S170C	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	170					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						GGAAGAGAAAGAAGTAAGGCC	0.353													14	58					0	0	0	0	C	41257490	G	C	41257490	3	2	263	1	0	0	0	0	1	0	0	0	4661	942	33	2	424	2	DNAJB7	22	41257490	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	16824903	41257490	10047076	163	47022											
ACO2	50	broad.mit.edu	37	chr22	41922358	41922358	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatctccaacaacctgctCattggtgccatcaacattga	13	10	5	13	0	3	1	2	1	1	0	4	1	3	1	3	1	6	1	3	1	4	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:41922358C>T	ENST00000396512.3	+	15	1946	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L	POLR3H_ENST00000396504.2_3'UTR|POLR3H_ENST00000355209.4_3'UTR|ACO2_ENST00000216254.4_Silent_p.L618L			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	618					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						ACAACCTGCTCATTGGTGCCA	0.562											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	122					0	0	0	0	T	41922358	C	T	41922358	2	4	263	1	0	0	0	0	0	0	0	1	147	813	29	2		2	ACO2	22	41922358	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	664868	41922358	9382208	164	47023											
KIAA1644	85352	broad.mit.edu	37	chr22	44681438	44681438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggcccgctgacccggccGaggggcccgagcggggttcc	3	4	19	15	5	0	1	0	1	0	0	1	3	1	1	5	7	1	2	5	7	0	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:44681438G>A	ENST00000381176.4	-	4	601	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	157						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGACCCGGCCGAGGGGCCCGA	0.697													21	67					0	0	0	0	A	44681438	G	A	44681438	3	1	263	1	0	0	0	0	1	0	0	0	8301	1057	37	1	138	1	KIAA1644	22	44681438	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	2759080	44681438	6623128	165	47024											
PKDREJ	10343	broad.mit.edu	37	chr22	46658432	46658432	+	Missense_Mutation	SNP	G	G	A																															cctgacccacggcgggcacgGagaacacctgccagtactgg																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:46658432G>A	ENST00000253255.5	-	1	787	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	263	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGCGGGCACGGAGAACACCTG	0.667													9	63					0	0	0	0	A	46658432	G	A	46658432	3	1	263	1	0	0	0	0	1	0	0	0	12042	1174	41	2	5977	2	PKDREJ	22	46658432	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	1976994	46658432	4646134	166	47025	355	2									
PKDREJ	10343	broad.mit.edu	37	chr22	46658434	46658434	+	Silent	SNP	G	G	A																															tgacccacggcgggcacggaGaacacctgccagtactgggc																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chr22:46658434G>A	ENST00000253255.5	-	1	785	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	262	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGGGCACGGAGAACACCTGCC	0.677													9	60					0	0	0	0	A	46658434	G	A	46658434	2	1	263	1	0	0	0	0	0	0	0	1	12042	933	33	2		2	PKDREJ	22	46658434	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08	2	46658434	4646132	167	47026	355	2									
NLGN4X	57502	broad.mit.edu	37	chrX	6069124	6069124	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagtatccaaattggcggtAaaccagatgggcagcatgtc	14	8	11	8	1	0	1	0	0	0	1	2	1	1	1	2	3	2	4	2	3	5	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:6069124A>C	ENST00000381095.3	-	2	1011	c.384T>G	c.(382-384)ttT>ttG	p.F128L	NLGN4X_ENST00000538097.1_Missense_Mutation_p.F128L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.F128L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.F128L|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Missense_Mutation_p.F128L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	128					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AATTGGCGGTAAACCAGATGG	0.478													25	90					0	0	0	0	C	6069124	A	C	6069124	3	2	263	1	0	0	0	0	1	0	0	0	10534	359	13	5	2086	5	NLGN4X	23	6069124	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08		6069124	149201436	168	47027											
TBL1X	6907	broad.mit.edu	37	chrX	9652149	9652149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtccaacatcaatgggaCgctagtgccaccggccgccc	9	5	10	17	3	1	0	1	0	0	0	2	1	2	1	6	2	2	1	6	2	3	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:9652149C>T	ENST00000217964.7	+	6	918	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TBL1X_ENST00000424279.1_Missense_Mutation_p.T42M|TBL1X_ENST00000536365.1_Missense_Mutation_p.T42M|TBL1X_ENST00000407597.2_Missense_Mutation_p.T93M|TBL1X_ENST00000380961.1_Missense_Mutation_p.T42M	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	93	F-box-like.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				ATCAATGGGACGCTAGTGCCA	0.567													16	60					0	0	0	0	T	9652149	C	T	9652149	3	4	263	1	0	0	0	0	1	0	0	0	15733	536	19	1	288	1	TBL1X	23	9652149	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	3583025	9652149	145618411	169	47028											
OFD1	8481	broad.mit.edu	37	chrX	13769430	13769430	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttaggagacaggagcAgaatataaagagttttgagg	15	8	14	4	0	0	4	0	1	0	3	0	6	0	5	0	4	1	3	0	4	5	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:13769430A>G	ENST00000380567.1	+	11	1450	c.578A>G	c.(577-579)cAg>cGg	p.Q193R	OFD1_ENST00000340096.6_Missense_Mutation_p.Q333R|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Intron|OFD1_ENST00000398395.3_Missense_Mutation_p.Q333R			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	333					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGACAGGAGCAGAATATAAAG	0.303													24	48					0	0	0	0	G	13769430	A	G	13769430	3	3	263	1	0	0	0	0	1	0	0	0	10909	188	7	5	1036	5	OFD1	23	13769430	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	4117281	13769430	141501130	170	47029											
PRDX4	10549	broad.mit.edu	37	chrX	23700515	23700515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattcttctgttttacagagGtctcttcattattgatgaca	9	18	6	8	0	4	3	1	2	3	1	5	3	4	3	0	1	1	1	0	1	2	7			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:23700515G>A	ENST00000379341.4	+	5	727	c.602G>A	c.(601-603)gGt>gAt	p.G201D		NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	201	Thioredoxin.				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity	p.G201D(1)		lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTTTACAGAGGTCTCTTCATT	0.373													12	37					0	0	0	0	A	23700515	G	A	23700515	3	1	263	1	0	0	0	0	1	0	0	0	12547	1261	44	4	620	4	PRDX4	23	23700515	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	9931085	23700515	131570045	171	47030											
FAM47C	442444	broad.mit.edu	37	chrX	37027222	37027222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactggagtgtcccatctcCgcccagagcctcccaagact	9	7	9	16	1	1	3	0	0	1	3	4	4	3	4	5	1	1	0	5	1	1	0			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:37027222C>T	ENST00000358047.3	+	1	791	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	247										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCCATCTCCGCCCAGAGCC	0.627													18	66					0	0	0	0	T	37027222	C	T	37027222	3	4	263	1	0	0	0	0	1	0	0	0	5618	652	23	1	741	1	FAM47C	23	37027222	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	13326707	37027222	118243338	172	47031											
NDUFB11	54539	broad.mit.edu	37	chrX	47002066	47002066	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaggaccaggatgatggaGacgccaaagaagaagacaag	18	2	13	8	1	0	5	0	1	0	4	0	8	0	7	3	3	0	0	3	3	5	0			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:47002066G>A	ENST00000377811.3	-	2	1109	c.285C>T	c.(283-285)gtC>gtT	p.V95V	NDUFB11_ENST00000276062.8_Silent_p.V95V	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	95					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						GGATGATGGAGACGCCAAAGA	0.537													27	61					0	0	0	0	A	47002066	G	A	47002066	2	1	263	1	0	0	0	0	0	0	0	1	10350	929	33	2		2	NDUFB11	23	47002066	Silent	SNP	G	TCGA-CV-6952-01A-11D-1912-08	9974844	47002066	108268494	173	47032											
HDAC6	10013	broad.mit.edu	37	chrX	48665100	48665100	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgagatccggaatggcAtggccatcattaggtaggac	10	8	15	8	1	1	1	1	1	0	1	2	4	2	3	2	6	0	3	2	6	3	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:48665100A>T	ENST00000334136.5	+	8	797	c.619A>T	c.(619-621)Atg>Ttg	p.M207L	HDAC6_ENST00000444343.2_Missense_Mutation_p.M221L|HDAC6_ENST00000376619.2_Missense_Mutation_p.M207L|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000413163.2_Missense_Mutation_p.M152L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	207	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.M207L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCGGAATGGCATGGCCATCAT	0.473													13	31					0	0	0	0	T	48665100	A	T	48665100	3	4	263	1	0	0	0	0	1	0	0	0	7061	217	8	5	645	5	HDAC6	23	48665100	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	1663034	48665100	106605460	174	47033											
HEPH	9843	broad.mit.edu	37	chrX	65392280	65392280	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctataaagaatacaaggatgActcatacacagatgaagtgg	18	8	9	6	0	1	4	1	2	0	2	1	5	1	5	0	2	2	0	0	2	8	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:65392280A>T	ENST00000519389.1	+	3	592	c.413A>T	c.(412-414)gAc>gTc	p.D138V	HEPH_ENST00000374727.3_Missense_Mutation_p.D87V|HEPH_ENST00000343002.2_Missense_Mutation_p.D84V|HEPH_ENST00000419594.1_Missense_Mutation_p.D87V|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000441993.2_Missense_Mutation_p.D87V			Q9BQS7	HEPH_HUMAN	hephaestin	84	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TACAAGGATGACTCATACACA	0.478													13	41					0	0	0	0	T	65392280	A	T	65392280	3	4	263	1	0	0	0	0	1	0	0	0	7104	275	10	5	423	5	HEPH	23	65392280	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	16727180	65392280	89878280	175	47034											
HEPH	9843	broad.mit.edu	37	chrX	65393633	65393633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaattgggcctctcatcacCtgtaaaagaggtacaggtcc	11	10	9	11	0	2	1	2	0	1	1	4	1	3	1	3	3	1	2	3	3	4	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:65393633C>T	ENST00000519389.1	+	4	956	c.777C>T	c.(775-777)acC>acT	p.T259T	HEPH_ENST00000374727.3_Silent_p.T208T|HEPH_ENST00000343002.2_Silent_p.T205T|HEPH_ENST00000419594.1_Silent_p.T208T|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000441993.2_Silent_p.T208T			Q9BQS7	HEPH_HUMAN	hephaestin	205	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTCTCATCACCTGTAAAAGAG	0.498													5	13					0	0	0	0	T	65393633	C	T	65393633	2	4	263	1	0	0	0	0	0	0	0	1	7104	668	24	4		4	HEPH	23	65393633	Silent	SNP	C	TCGA-CV-6952-01A-11D-1912-08	1353	65393633	89876927	176	47035											
TAF1	6872	broad.mit.edu	37	chrX	70612527	70612527	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacggggtgtggtgaaggaTtctcctatgtgaagattcca	9	11	13	8	1	1	3	0	2	1	1	3	4	2	4	3	4	0	0	3	4	3	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:70612527T>A	ENST00000449580.1	+	19	2938	c.2887T>A	c.(2887-2889)Ttc>Atc	p.F963I	TAF1_ENST00000373790.4_Missense_Mutation_p.F963I|TAF1_ENST00000276072.3_Missense_Mutation_p.F984I|TAF1_ENST00000423759.1_Missense_Mutation_p.F984I			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	963					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGGTGAAGGATTCTCCTATGT	0.488													17	78					0	0	0	0	A	70612527	T	A	70612527	3	1	263	1	0	0	0	0	1	0	0	0	15604	1493	52	5	3024	5	TAF1	23	70612527	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	5218894	70612527	84658033	177	47036											
GPR174	84636	broad.mit.edu	37	chrX	78427029	78427029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttgtggatcttcctaccagGaatgtcaacctggcccagtc	8	12	9	12	0	2	0	1	0	1	0	4	2	3	2	4	3	2	0	4	3	3	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:78427029G>C	ENST00000276077.1	+	1	561	c.525G>C	c.(523-525)agG>agC	p.R175S		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	175						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTCCTACCAGGAATGTCAACC	0.483										HNSCC(63;0.18)			19	64					0	0	0	0	C	78427029	G	C	78427029	3	2	263	1	0	0	0	0	1	0	0	0	6721	1165	41	2	527	2	GPR174	23	78427029	Missense_Mutation	SNP	G	TCGA-CV-6952-01A-11D-1912-08	7814502	78427029	76843531	178	47037											
TBX22	50945	broad.mit.edu	37	chrX	79283536	79283536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctacccatggaggccttctTtcactctcgattttaaaacc	9	13	5	14	1	3	0	1	0	2	0	4	2	3	1	4	2	2	0	4	2	3	5			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:79283536T>C	ENST00000442340.1	+	8	1040	c.550T>C	c.(550-552)Ttc>Ctc	p.F184L	TBX22_ENST00000373291.1_Missense_Mutation_p.F184L|TBX22_ENST00000373294.5_Missense_Mutation_p.F304L|TBX22_ENST00000373296.3_Missense_Mutation_p.F304L	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	304					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAGGCCTTCTTTCACTCTCGA	0.368													13	56					0	0	0	0	C	79283536	T	C	79283536	3	2	263	1	0	0	0	0	1	0	0	0	15752	1841	64	5	936	5	TBX22	23	79283536	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	856507	79283536	75987024	179	47038											
HDX	139324	broad.mit.edu	37	chrX	83724401	83724401	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgaactggctggactgtaTataccagttacaatgacatc	13	11	9	8	0	0	2	0	2	0	0	1	4	0	3	1	2	3	3	1	2	6	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:83724401T>C	ENST00000297977.5	-	3	441	c.330A>G	c.(328-330)atA>atG	p.I110M	HDX_ENST00000506585.2_Missense_Mutation_p.I52M|HDX_ENST00000373177.2_Missense_Mutation_p.I110M	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	110						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I110M(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGGACTGTATATACCAGTTA	0.408													28	89					0	0	0	0	C	83724401	T	C	83724401	3	2	263	1	0	0	0	0	1	0	0	0	7076	1396	49	5	1774	5	HDX	23	83724401	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	4440865	83724401	71546159	180	47039											
TCEAL7	56849	broad.mit.edu	37	chrX	102586386	102586386	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgcagcgtgccaaagAgggaggaaaaacgcccgtat	15	4	13	9	3	0	1	0	0	0	1	0	3	0	3	2	2	4	2	2	2	5	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:102586386A>T	ENST00000332431.4	+	3	309	c.55A>T	c.(55-57)Agg>Tgg	p.R19W	TCEAL7_ENST00000372666.1_Missense_Mutation_p.R19W	NM_152278.3	NP_689491.1	Q9BRU2	TCAL7_HUMAN	transcription elongation factor A (SII)-like 7	19					negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R19W(1)		endometrium(1)|upper_aerodigestive_tract(1)	2						cgtgccaaagagggaggaaaa	0.433													3	8					0	0	0	0	T	102586386	A	T	102586386	3	4	263	1	0	0	0	0	1	0	0	0	15770	295	11	5	57	5	TCEAL7	23	102586386	Missense_Mutation	SNP	A	TCGA-CV-6952-01A-11D-1912-08	18861985	102586386	52684174	181	47040											
VSIG1	340547	broad.mit.edu	37	chrX	107301344	107301344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatctaatgtcactctcatCtgcatctacaccaccactgt	10	12	5	14	0	5	0	2	0	4	0	6	1	5	1	2	1	2	1	2	1	2	2			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:107301344C>G	ENST00000415430.3	+	2	287	c.126C>G	c.(124-126)atC>atG	p.I42M	VSIG1_ENST00000217957.5_Missense_Mutation_p.I42M	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	42	Ig-like V-type 1.					integral to membrane		p.I42M(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TCACTCTCATCTGCATCTACA	0.448													19	56					0	0	0	0	G	107301344	C	G	107301344	3	3	263	1	0	0	0	0	1	0	0	0	17318	903	32	2	132	2	VSIG1	23	107301344	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	4714958	107301344	47969216	182	47041											
IL13RA2	3598	broad.mit.edu	37	chrX	114238663	114238663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgtatcacagaaaaattCtggaatctagaaagaactct	17	11	6	7	0	5	3	2	0	3	3	5	4	5	4	0	1	1	1	0	1	7	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:114238663C>T	ENST00000371936.1	-	11	1372	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	IL13RA2_ENST00000243213.1_Missense_Mutation_p.E375K			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	375						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	p.E375K(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						CAGAAAAATTCTGGAATCTAG	0.333													6	16					0	0	0	0	T	114238663	C	T	114238663	3	4	263	1	0	0	0	0	1	0	0	0	7683	922	32	2	23	2	IL13RA2	23	114238663	Missense_Mutation	SNP	C	TCGA-CV-6952-01A-11D-1912-08	6937319	114238663	41031897	183	47042											
IGSF1	3547	broad.mit.edu	37	chrX	130415220	130415220	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtctccgacacttccaccTtatccacagcactaccaaca	12	8	4	17	1	1	0	0	0	1	0	4	2	3	0	5	0	3	1	5	0	3	3			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:130415220T>G	ENST00000370904.1	-	15	2501	c.1591A>C	c.(1591-1593)Agg>Cgg	p.R531R	IGSF1_ENST00000361420.3_Silent_p.R540R|IGSF1_ENST00000370903.3_Silent_p.R540R|IGSF1_ENST00000370910.1_Silent_p.R531R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	540					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CACTTCCACCTTATCCACAGC	0.493													78	215					0	0	0	0	G	130415220	T	G	130415220	2	3	263	1	0	0	0	0	0	0	0	1	7649	1608	56	5		5	IGSF1	23	130415220	Silent	SNP	T	TCGA-CV-6952-01A-11D-1912-08	16176557	130415220	24855340	184	47043											
SLC9A6	10479	broad.mit.edu	37	chrX	135098865	135098865	+	Frame_Shift_Del	DEL	T	T	-																															ctcctacatggggctgacacTgttcaccttccagaaccatg																										TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:135098865delT	ENST00000370695.4	+	10	1333	c.1298delT	c.(1297-1299)cgfs	p.L433fs	SLC9A6_ENST00000370698.3_Frame_Shift_Del_p.L401fs|SLC9A6_ENST00000370701.1_Frame_Shift_Del_p.L381fs	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	401					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.L401Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGGCTGACACTGTTCACCTTC	0.333													25	65	---	---	---	---					-	135098865	T	-	135098865	7	5	263	1	0	1	0	1	0	0	0	0	14806	1580	55	0	1336	0	SLC9A6	23	135098865	Frame_Shift_Del	DEL	T	TCGA-CV-6952-01A-11D-1912-08	4683645	135098865	20171695	185	47044											
MCF2	4168	broad.mit.edu	37	chrX	138686866	138686866	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaaacaaggtcccactcTttctggagcatgagcacaat	13	8	9	11	0	2	1	0	1	2	0	3	3	3	3	1	3	3	2	1	3	3	1			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:138686866T>A	ENST00000520602.1	-	18	2182	c.1897A>T	c.(1897-1899)Aga>Tga	p.R633*	MCF2_ENST00000519895.1_Nonsense_Mutation_p.R649*|MCF2_ENST00000370573.4_Nonsense_Mutation_p.R573*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.R589*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.R718*|MCF2_ENST00000414978.1_Nonsense_Mutation_p.R633*|MCF2_ENST00000370576.4_Nonsense_Mutation_p.R573*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.R534*			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	573	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GGTCCCACTCTTTCTGGAGCA	0.308													8	14					0	0	0	0	A	138686866	T	A	138686866	4	1	263	1	0	0	0	0	0	1	0	0	9447	1617	56	5	1132	5	MCF2	23	138686866	Nonsense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	3588001	138686866	16583694	186	47045											
HCFC1	3054	broad.mit.edu	37	chrX	153227686	153227686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttacttatttccgatggTggttgccgagtggagactgc	7	13	12	9	2	0	1	0	0	0	1	1	4	1	1	2	3	3	1	2	3	2	4			TCGA-CV-6952-01A-11D-1912-08	TCGA-CV-6952-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d859062-3655-471e-b3dd-e6ff0671c076	6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab	g.chrX:153227686T>C	ENST00000310441.7	-	5	1750	c.784A>G	c.(784-786)Acc>Gcc	p.T262A	HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000369984.4_Missense_Mutation_p.T262A|HCFC1_ENST00000354233.3_Missense_Mutation_p.T262A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	262					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCGATGGTGGTTGCCGAG	0.587													3	30					0	0	0	0	C	153227686	T	C	153227686	3	2	263	1	0	0	0	0	1	0	0	0	7041	1696	59	5	5411	5	HCFC1	23	153227686	Missense_Mutation	SNP	T	TCGA-CV-6952-01A-11D-1912-08	14540820	153227686	2042874	187	47046											
GNB1	2782	broad.mit.edu	37	chr1	1720641	1720641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgagctcctggtcagcaCgaaggtcaaacagcctgcag	11	7	11	12	1	3	1	3	1	0	0	4	2	4	1	2	2	5	3	2	2	2	0	rs11554059		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:1720641C>T	ENST00000378609.4	-	10	1098	c.767G>A	c.(766-768)cGt>cAt	p.R256H		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	256					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CTGGTCAGCACGAAGGTCAAA	0.522											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	30					0	0	0	0	T	1720641	C	T	1720641	3	4	264	1	0	0	0	0	1	0	0	0	6566	536	19	1	263	1	GNB1	1	1720641	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08		1720641	247529980	1	47047											
SPOCD1	90853	broad.mit.edu	37	chr1	32280968	32280968	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggccaaaagcacaacaCgggccctgtgtggagacaga	12	4	13	12	1	0	2	0	0	0	2	0	3	0	2	3	3	2	1	3	3	3	0			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:32280968C>T	ENST00000360482.2	-	0	96				SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_De_novo_Start_OutOfFrame|SPOCD1_ENST00000373648.2_De_novo_Start_OutOfFrame	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1						transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AAGCACAACACGGGCCCTGTG	0.602													11	27					0	0	0	0	T	32280968	C	T	32280968	1	4	264	1	0	0	0	0	0	0	0	0	15168	551	19	1		1	SPOCD1	1	32280968	Translation_Start_Site	SNP	C	TCGA-CV-6953-01A-11D-1912-08	30560327	32280968	216969653	2	47048											
GRIK3	2899	broad.mit.edu	37	chr1	37271718	37271718	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctcacccatgggcgtgccGatgccgtagcccttggagtc	5	8	13	15	4	1	0	1	0	0	0	2	2	1	1	4	2	3	2	4	2	1	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:37271718G>A	ENST00000373091.3	-	14	2317	c.2301C>T	c.(2299-2301)atC>atT	p.I767I	GRIK3_ENST00000373093.4_Silent_p.I767I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	767					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGGGCGTGCCGATGCCGTAGC	0.662													13	53					0	0	0	0	A	37271718	G	A	37271718	2	1	264	1	0	0	0	0	0	0	0	1	6825	1048	37	1		1	GRIK3	1	37271718	Silent	SNP	G	TCGA-CV-6953-01A-11D-1912-08	4990750	37271718	211978903	3	47049											
C1orf109	54955	broad.mit.edu	37	chr1	38152075	38152075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcatagatctgaaacaCtcgctccacatggctgctga	10	11	8	12	1	2	3	1	2	1	1	4	3	3	3	1	1	3	4	1	1	2	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:38152075C>T	ENST00000358011.4	-	3	514	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	C1orf109_ENST00000494120.1_5'UTR	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	109										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				ATCTGAAACACTCGCTCCACA	0.498													5	38					0	0	0	0	T	38152075	C	T	38152075	3	4	264	1	0	0	0	0	1	0	0	0	2001	565	20	4	298	4	C1orf109	1	38152075	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	880357	38152075	211098546	4	47050											
GLIS1	148979	broad.mit.edu	37	chr1	54060170	54060170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccttccggcaggcttcaaGttgcaagctgccctcatggc	6	9	11	15	2	2	0	2	0	0	0	3	0	3	0	3	3	3	5	3	3	2	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:54060170G>A	ENST00000312233.2	-	3	972	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	136					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CAGGCTTCAAGTTGCAAGCTG	0.667													12	42					0	0	0	0	A	54060170	G	A	54060170	3	1	264	1	0	0	0	0	1	0	0	0	6496	1029	36	4	1488	4	GLIS1	1	54060170	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	15908095	54060170	195190451	5	47051											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112999913	112999913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctgctaccactccattgaCcaaaactcattcccaggcag	12	9	5	15	0	2	1	1	1	1	0	4	1	4	1	4	1	3	2	4	1	3	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:112999913C>T	ENST00000271277.6	+	6	2024	c.1799C>T	c.(1798-1800)aCc>aTc	p.T600I	RP4-671G15.3_ENST00000508462.1_RNA|CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	600						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTCCATTGACCAAAACTCAT	0.522													10	79					0	0	0	0	T	112999913	C	T	112999913	3	4	264	1	0	0	0	0	1	0	0	0	4078	507	18	4	1813	4	CTTNBP2NL	1	112999913	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	58939743	112999913	136250708	6	47052											
AQP10	89872	broad.mit.edu	37	chr1	154295468	154295468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacttgaaggggcccacctGaatccagccttctccctggc	8	9	9	15	0	1	2	0	2	1	0	3	2	2	2	5	3	2	0	5	3	3	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:154295468G>A	ENST00000484864.1	+	3	279	c.243G>A	c.(241-243)ctG>ctA	p.L81L	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Silent_p.L81L			Q96PS8	AQP10_HUMAN	aquaporin 10	81					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGCCCACCTGAATCCAGCCT	0.507													25	74					0	0	0	0	A	154295468	G	A	154295468	2	1	264	1	0	0	0	0	0	0	0	1	824	1277	45	2		2	AQP10	1	154295468	Silent	SNP	G	TCGA-CV-6953-01A-11D-1912-08	41295555	154295468	94955153	7	47053											
LAMC1	3915	broad.mit.edu	37	chr1	183085957	183085957	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcggggttgcacacccTgcttctgctttgggcattct	4	14	10	13	1	2	0	0	0	2	0	4	0	3	0	2	3	3	5	2	3	0	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:183085957T>A	ENST00000258341.4	+	8	1740	c.1483T>A	c.(1483-1485)Tgc>Agc	p.C495S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	495	Laminin EGF-like 5; first part.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCACACCCTGCTTCTGCTT	0.388													18	73					0	0	0	0	A	183085957	T	A	183085957	3	1	264	1	0	0	0	0	1	0	0	0	8667	1580	55	5	1513	5	LAMC1	1	183085957	Missense_Mutation	SNP	T	TCGA-CV-6953-01A-11D-1912-08	28790489	183085957	66164664	8	47054											
RGS21	431704	broad.mit.edu	37	chr1	192335209	192335209	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttataaaaaactggtaaaTagccaacaggttccaaatca	19	10	5	7	0	1	0	1	0	0	0	2	0	2	0	2	2	3	2	2	2	9	6			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:192335209T>C	ENST00000417209.2	+	5	588	c.414T>C	c.(412-414)aaT>aaC	p.N138N		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	138					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AACTGGTAAATAGCCAACAGG	0.333													13	46					0	0	0	0	C	192335209	T	C	192335209	2	2	264	1	0	0	0	0	0	0	0	1	13387	1403	49	5		5	RGS21	1	192335209	Silent	SNP	T	TCGA-CV-6953-01A-11D-1912-08	9249252	192335209	56915412	9	47055											
RPS6KC1	26750	broad.mit.edu	37	chr1	213414331	213414331	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagattctggttcaagttcAgaagaagaatgtactactag	14	11	9	7	0	3	4	2	0	1	4	3	4	3	4	1	1	2	3	1	1	7	6			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:213414331A>C	ENST00000366960.3	+	11	1662	c.1512A>C	c.(1510-1512)tcA>tcC	p.S504S	RPS6KC1_ENST00000366959.3_Silent_p.S492S|RPS6KC1_ENST00000543354.1_Silent_p.S207S|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Silent_p.S292S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	504					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GTTCAAGTTCAGAAGAAGAAT	0.408													15	35					0	0	0	0	C	213414331	A	C	213414331	2	2	264	1	0	0	0	0	0	0	0	1	13743	175	7	5		5	RPS6KC1	1	213414331	Silent	SNP	A	TCGA-CV-6953-01A-11D-1912-08	21079122	213414331	35836290	10	47056											
ALLC	55821	broad.mit.edu	37	chr2	3726069	3726069	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctagagtgacagcccGtgcttcaaagagcatgaata	12	9	10	10	1	1	4	1	2	0	2	1	4	1	4	2	0	4	2	2	0	4	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:3726069G>A	ENST00000252505.3	+	4	258	c.96G>A	c.(94-96)ccG>ccA	p.P32P		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	51							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GTGACAGCCCGTGCTTCAAAG	0.488										HNSCC(21;0.051)			7	30					0	0	0	0	A	3726069	G	A	3726069	2	1	264	1	0	0	0	0	0	0	0	1	534	1132	40	1		1	ALLC	2	3726069	Silent	SNP	G	TCGA-CV-6953-01A-11D-1912-08		3726069	239473304	11	47057											
PLEKHH2	130271	broad.mit.edu	37	chr2	43953472	43953472	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggttgacagatcttgtgAttcagatgaagattatgaag	14	12	12	3	0	2	8	1	4	1	4	2	8	2	8	0	1	0	1	0	1	3	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:43953472A>T	ENST00000282406.4	+	17	2713	c.2603A>T	c.(2602-2604)gAt>gTt	p.D868V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	868	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGATCTTGTGATTCAGATGAA	0.388													10	44					0	0	0	0	T	43953472	A	T	43953472	3	4	264	1	0	0	0	0	1	0	0	0	12149	333	12	5	2665	5	PLEKHH2	2	43953472	Missense_Mutation	SNP	A	TCGA-CV-6953-01A-11D-1912-08	40227403	43953472	199245901	12	47058											
GPR45	11250	broad.mit.edu	37	chr2	105858505	105858505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatcgtgtaccagaggccgGctatgcgctcggccatcaac	8	8	11	14	4	2	1	2	0	0	1	4	1	2	1	3	3	3	3	3	3	3	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:105858505G>T	ENST00000258456.1	+	1	306	c.190G>T	c.(190-192)Gct>Tct	p.A64S		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	64						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.A64T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CCAGAGGCCGGCTATGCGCTC	0.617													33	104					1.56442e-22	1.20965e-21	1	0	T	105858505	G	T	105858505	3	4	264	1	0	0	0	0	1	0	0	0	6745	1203	42	4	192	4	GPR45	2	105858505	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	61905033	105858505	137340868	13	47059											
OSGEPL1	64172	broad.mit.edu	37	chr2	190619979	190619982	+	Frame_Shift_Del	DEL	ACAG	ACAG	-																															aactccttgaactaatgccaAcagacagtgacctccagaaa																										TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:190619979_190619982delACAG	ENST00000519810.1	-	4	868_871	c.526_529delCTGT	c.(526-531)tgfs	p.LL176fs	OSGEPL1_ENST00000264151.5_Frame_Shift_Del_p.LL176fs|OSGEPL1_ENST00000522700.1_Frame_Shift_Del_p.LL176fs			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	176					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			ACTAATGCCAACAGACAGTGACCT	0.368													19	84	---	---	---	---					-	190619982	ACAG	-	190619979	7	5	264	1	0	1	0	1	0	0	0	0	11359	40	2	0	739	0	OSGEPL1	2	190619979	Frame_Shift_Del	DEL	ACAG	TCGA-CV-6953-01A-11D-1912-08	84761474	190619979	52579394	14	47060											
HECW2	57520	broad.mit.edu	37	chr2	197183717	197183717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccaggtcactctctccctCaggcctggtgctggcttcgc	3	12	10	16	1	3	0	2	0	1	0	7	0	5	0	3	4	1	2	3	4	0	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:197183717C>T	ENST00000260983.2	-	9	2079	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	HECW2_ENST00000409111.1_Missense_Mutation_p.E277K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	633					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCTCTCCCTCAGGCCTGGTG	0.592													13	31					0	0	0	0	T	197183717	C	T	197183717	3	4	264	1	0	0	0	0	1	0	0	0	7093	835	29	2	2905	2	HECW2	2	197183717	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	6563738	197183717	46015656	15	47061											
CASP8	841	broad.mit.edu	37	chr2	202150039	202150039	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgagagagcgatgtcctCggtaagttttgcctactcag	8	11	12	10	2	1	2	1	1	0	1	3	4	2	2	3	1	3	2	3	1	2	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:202150039C>T	ENST00000358485.4	+	8	1676	c.1481_splice	c.e8+1	p.R494_splice	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Splice_Site_p.R351_splice|CASP8_ENST00000264275.5_Splice_Site_p.R452_splice|CASP8_ENST00000323492.7_Splice_Site_p.R420_splice|CASP8_ENST00000432109.2_Splice_Site_p.R435_splice	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	435					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R452*(2)|p.R494*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCGATGTCCTCGGTAAGTTTT	0.502										HNSCC(4;0.00038)			15	54					0	0	0	0	T	202150039	C	T	202150039	5	4	264	1	0	0	0	0	0	0	1	0	2702	898	31	1	1610	1	CASP8	2	202150039	Splice_Site	SNP	C	TCGA-CV-6953-01A-11D-1912-08	4966322	202150039	41049334	16	47062											
ZDBF2	57683	broad.mit.edu	37	chr2	207169470	207169470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgagacacatgtgaataCtgggtcatcgtctgaagtgg	12	10	13	6	1	2	4	1	3	1	2	3	5	2	4	0	2	1	0	0	2	3	1			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:207169470C>A	ENST00000374423.3	+	5	604	c.218C>A	c.(217-219)aCt>aAt	p.T73N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	73							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CATGTGAATACTGGGTCATCG	0.383													22	39					2.21704e-12	1.62472e-11	1	0	A	207169470	C	A	207169470	3	1	264	1	0	0	0	0	1	0	0	0	17694	565	20	4	228	4	ZDBF2	2	207169470	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	5019431	207169470	36029903	17	47063											
OBSL1	23363	broad.mit.edu	37	chr2	220419305	220419305	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcggtgacggtggccgtcCgagtggatgtgacacttggg	6	9	18	8	4	0	2	0	2	0	0	2	4	1	3	2	5	0	0	2	5	0	1			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:220419305C>T	ENST00000404537.1	-	15	4823	c.4767G>A	c.(4765-4767)tcG>tcA	p.S1589S	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Silent_p.S1497S	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1589					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGTGGCCGTCCGAGTGGATGT	0.642													7	20					0	0	0	0	T	220419305	C	T	220419305	2	4	264	1	0	0	0	0	0	0	0	1	10884	639	23	1		1	OBSL1	2	220419305	Silent	SNP	C	TCGA-CV-6953-01A-11D-1912-08	13249835	220419305	22780068	18	47064											
THAP4	51078	broad.mit.edu	37	chr2	242573331	242573331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtggaagatggatggcaCggccgtgggcttcagcaggc	8	6	18	9	2	1	1	1	0	0	1	1	3	1	3	1	7	1	3	1	7	1	1			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:242573331C>T	ENST00000407315.1	-	2	672	c.241G>A	c.(241-243)Gtg>Atg	p.V81M		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	81							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		ATGGATGGCACGGCCGTGGGC	0.587													36	123					0	0	0	0	T	242573331	C	T	242573331	3	4	264	1	0	0	0	0	1	0	0	0	15940	536	19	1	1520	1	THAP4	2	242573331	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	22154026	242573331	626042	19	47065											
FLNB	2317	broad.mit.edu	37	chr3	58120482	58120482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatgccggggaaggcctgCttgctgttcaaataacggta	10	9	14	8	2	1	1	1	0	0	1	1	3	1	2	2	4	4	4	2	4	4	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr3:58120482C>G	ENST00000357272.4	+	27	4819	c.4654C>G	c.(4654-4656)Ctt>Gtt	p.L1552V	FLNB_ENST00000493452.1_Missense_Mutation_p.L1383V|FLNB_ENST00000490882.1_Missense_Mutation_p.L1583V|FLNB_ENST00000295956.4_Missense_Mutation_p.L1552V|FLNB_ENST00000429972.2_Missense_Mutation_p.L1552V|FLNB_ENST00000358537.3_Missense_Mutation_p.L1552V|FLNB_ENST00000348383.5_Missense_Mutation_p.L1552V|FLNB_ENST00000419752.2_Missense_Mutation_p.L1383V			O75369	FLNB_HUMAN	filamin B, beta	1552					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAAGGCCTGCTTGCTGTTCA	0.473													43	132					0	0	0	0	G	58120482	C	G	58120482	3	3	264	1	0	0	0	0	1	0	0	0	5979	797	28	4	4857	4	FLNB	3	58120482	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08		58120482	139901948	20	47066											
EPHA3	2042	broad.mit.edu	37	chr3	89448630	89448630	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgaaactagtccagacTgtatgtattatttcaatgca	13	15	7	6	0	1	2	1	1	0	1	2	2	2	2	1	0	2	4	1	0	6	6			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr3:89448630T>A	ENST00000452448.2	+	7	1681	c.1594T>A	c.(1594-1596)Tgt>Agt	p.C532S	EPHA3_ENST00000494014.1_Splice_Site_p.S532_splice|EPHA3_ENST00000336596.2_Splice_Site_p.S532_splice	NM_182644.2	NP_872585.1	P29320	EPHA3_HUMAN	EPH receptor A3	0						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TAGTCCAGACTGTATGTATTA	0.433										TSP Lung(6;0.00050)			16	42					0	0	0	0	A	89448630	T	A	89448630	3	1	264	1	0	0	0	0	1	0	0	0	5206	1594	55	5	1620	5	EPHA3	3	89448630	Missense_Mutation	SNP	T	TCGA-CV-6953-01A-11D-1912-08	31328148	89448630	108573800	21	47067											
KIAA2018	205717	broad.mit.edu	37	chr3	113377777	113377777	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatcctgagatgtctcttGttgtagattaggggtagaat	9	17	11	4	0	1	3	0	1	1	3	3	4	2	3	1	2	0	3	1	2	5	7			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr3:113377777G>A	ENST00000316407.4	-	7	3162	c.2752C>T	c.(2752-2754)Caa>Taa	p.Q918*	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.Q918*	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	918					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATGTCTCTTGTTGTAGATTA	0.448													33	98					0	0	0	0	A	113377777	G	A	113377777	4	1	264	1	0	0	0	0	0	1	0	0	8319	1386	48	4	3989	4	KIAA2018	3	113377777	Nonsense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	23929147	113377777	84644653	22	47068											
EIF2B5	8893	broad.mit.edu	37	chr3	183858377	183858377	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagctgcactcattccCggcacaacatctaccgaggg	10	6	9	16	2	2	1	1	0	1	1	3	2	3	1	3	2	4	3	3	2	2	2	rs113994068		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr3:183858377C>A	ENST00000273783.3	+	7	1137	c.1015C>A	c.(1015-1017)Cgg>Agg	p.R339R	EIF2B5_ENST00000444495.1_Silent_p.R339R	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	339			R -> P (in VWM).|R -> Q (in VWM).|R -> W (in VWM).		astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CACTCATTCCCGGCACAACAT	0.587													5	112					0.00116845	0.00764942	1	0	A	183858377	C	A	183858377	2	1	264	1	0	0	0	0	0	0	0	1	5040	643	23	3		3	EIF2B5	3	183858377	Silent	SNP	C	TCGA-CV-6953-01A-11D-1912-08	70480600	183858377	14164053	23	47069											
UGT2B10	7365	broad.mit.edu	37	chr4	69682402	69682402	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctttattttgacttttGgttccaaatatttaatatga	10	21	6	4	0	0	2	0	2	0	0	1	2	1	2	1	1	1	2	1	1	5	11			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr4:69682402G>C	ENST00000265403.7	+	1	692	c.665G>C	c.(664-666)tGg>tCg	p.W222S	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	222					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTTGACTTTTGGTTCCAAATA	0.313													17	65					0	0	0	0	C	69682402	G	C	69682402	3	2	264	1	0	0	0	0	1	0	0	0	17052	1357	47	4	667	4	UGT2B10	4	69682402	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08		69682402	121471874	24	47070											
FBXO8	26269	broad.mit.edu	37	chr4	175158632	175158632	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaaatcttcactaatattTtgagcagcgcgacgggtatt	13	12	8	8	3	2	1	1	1	1	0	2	2	2	1	0	1	2	2	0	1	5	7	rs148818503		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr4:175158632T>A	ENST00000393674.2	-	6	1753	c.891A>T	c.(889-891)caA>caT	p.Q297H	FBXO8_ENST00000503293.1_Missense_Mutation_p.Q256H	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	297					regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		CACTAATATTTTGAGCAGCGC	0.378													19	58					0	0	0	0	A	175158632	T	A	175158632	3	1	264	1	0	0	0	0	1	0	0	0	5806	1838	64	5	72	5	FBXO8	4	175158632	Missense_Mutation	SNP	T	TCGA-CV-6953-01A-11D-1912-08	105476230	175158632	15995644	25	47071											
IRF2	3660	broad.mit.edu	37	chr4	185339790	185339790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttcttcaatatcaggcaagGaattcatggcgcatctgaaa	13	11	8	9	1	5	1	3	1	2	0	5	2	5	2	0	3	0	2	0	3	5	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr4:185339790G>A	ENST00000393593.3	-	4	467	c.260C>T	c.(259-261)tCc>tTc	p.S87F	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	87					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATCAGGCAAGGAATTCATGGC	0.408													8	36					0	0	0	0	A	185339790	G	A	185339790	3	1	264	1	0	0	0	0	1	0	0	0	7881	1174	41	2	813	2	IRF2	4	185339790	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	10181158	185339790	5814486	26	47072											
CDH12	1010	broad.mit.edu	37	chr5	21817158	21817158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattcaatttctgcattttGtccaaaatcaggatccacag	12	14	6	9	0	3	0	2	0	1	0	5	1	5	1	2	1	1	2	2	1	4	5			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:21817158G>T	ENST00000382254.1	-	9	1984	c.898C>A	c.(898-900)Caa>Aaa	p.Q300K	CDH12_ENST00000504376.2_Missense_Mutation_p.Q300K|CDH12_ENST00000522262.1_Missense_Mutation_p.Q260K|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	300	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTGCATTTTGTCCAAAATCA	0.388										HNSCC(59;0.17)			14	87					3.27435e-08	2.33001e-07	1	0	T	21817158	G	T	21817158	3	4	264	1	0	0	0	0	1	0	0	0	3127	1386	48	4	1514	4	CDH12	5	21817158	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08		21817158	159098102	27	47073											
TTC23L	153657	broad.mit.edu	37	chr5	34864544	34864544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttccttgactatttcactgGcagagaagcctatttcaacc	10	14	6	11	0	2	2	2	1	0	1	3	3	3	2	3	1	2	1	3	1	4	6			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:34864544G>A	ENST00000505624.1	+	6	642	c.539G>A	c.(538-540)gGc>gAc	p.G180D	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	180							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TATTTCACTGGCAGAGAAGCC	0.423													6	105					0	0	0	0	A	34864544	G	A	34864544	3	1	264	1	0	0	0	0	1	0	0	0	16787	1203	42	4	557	4	TTC23L	5	34864544	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	13047386	34864544	146050716	28	47074											
PLK2	10769	broad.mit.edu	37	chr5	57751189	57751189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataaattgctcaggagcatCtgttgctgggaaaactgagc	13	10	11	7	0	2	1	1	1	1	0	2	3	2	3	0	2	5	4	0	2	5	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:57751189C>T	ENST00000274289.3	-	12	1978	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	560	POLO box 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCAGGAGCATCTGTTGCTGGG	0.408													15	67					0	0	0	0	T	57751189	C	T	57751189	3	4	264	1	0	0	0	0	1	0	0	0	12168	913	32	2	391	2	PLK2	5	57751189	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	22886645	57751189	123164071	29	47075											
MEF2C	4208	broad.mit.edu	37	chr5	88056848	88056848	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattatcaaattcttcattaAtttttttgtatttttcttca	10	25	1	5	0	5	0	3	0	2	0	5	0	5	0	0	0	0	1	0	0	5	12			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:88056848A>T	ENST00000340208.5	-	6	818	c.413T>A	c.(412-414)aTt>aAt	p.I138N	MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000437473.2_Intron|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000504921.2_Intron|MEF2C_ENST00000503554.1_Intron|MEF2C_ENST00000514028.1_Intron|MEF2C_ENST00000514015.1_Intron|MEF2C_ENST00000510942.1_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000424173.2_Missense_Mutation_p.I118N	NM_001193347.1	NP_001180276.1	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	120					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTCTTCATTAATTTTTTTGTA	0.398										HNSCC(66;0.2)			5	93					0	0	0	0	T	88056848	A	T	88056848	3	4	264	1	0	0	0	0	1	0	0	0	9526	101	4	5	1094	5	MEF2C	5	88056848	Missense_Mutation	SNP	A	TCGA-CV-6953-01A-11D-1912-08	30305659	88056848	92858412	30	47076											
TTC37	9652	broad.mit.edu	37	chr5	94833175	94833175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacaacagagaccaaagaGcagggtcaccagggttgcta	15	4	13	9	0	1	3	1	0	0	3	1	5	1	3	2	2	3	3	2	2	3	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:94833175G>T	ENST00000358746.2	-	34	3879	c.3581C>A	c.(3580-3582)gCt>gAt	p.A1194D		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1194							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGACCAAAGAGCAGGGTCACC	0.373													6	20					0.000157383	0.00106586	1	0	T	94833175	G	T	94833175	3	4	264	1	0	0	0	0	1	0	0	0	16801	971	34	4	1153	4	TTC37	5	94833175	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	6776327	94833175	86082085	31	47077											
FSTL4	23105	broad.mit.edu	37	chr5	132556521	132556521	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgacgatgataccgtcGtcggagaagacatagaacat	14	8	12	7	4	0	5	0	2	0	3	2	8	0	6	1	2	2	0	1	2	4	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:132556521G>A	ENST00000265342.7	-	12	1626	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	FSTL4_ENST00000507112.1_5'UTR|CTB-49A3.2_ENST00000509051.1_RNA|CTB-49A3.2_ENST00000502776.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	459						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGATACCGTCGTCGGAGAAGA	0.547													19	84					0	0	0	0	A	132556521	G	A	132556521	2	1	264	1	0	0	0	0	0	0	0	1	6127	1136	40	1		1	FSTL4	5	132556521	Silent	SNP	G	TCGA-CV-6953-01A-11D-1912-08	37723346	132556521	48358739	32	47078											
FBXO38	81545	broad.mit.edu	37	chr5	147819261	147819261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagtggtccctacccctatCacatctgtattatccatgaa	10	14	5	12	0	2	1	1	1	1	0	4	1	4	1	4	1	1	1	4	1	6	5			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:147819261C>G	ENST00000340253.5	+	19	3244	c.3076C>G	c.(3076-3078)Cac>Gac	p.H1026D	FBXO38_ENST00000296701.6_Missense_Mutation_p.H781D|FBXO38_ENST00000394370.3_Missense_Mutation_p.H951D|FBXO38_ENST00000513826.1_Missense_Mutation_p.H781D			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1026						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACCCCTATCACATCTGTAT	0.433													16	88					0	0	0	0	G	147819261	C	G	147819261	3	3	264	1	0	0	0	0	1	0	0	0	5791	826	29	2	3146	2	FBXO38	5	147819261	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	15262740	147819261	33095999	33	47079											
WRNIP1	56897	broad.mit.edu	37	chr6	2779537	2779537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ataaagcagtagacaccctgGcttacctcagtgacggtgac	12	8	10	11	1	1	3	1	2	0	1	1	3	1	3	2	2	2	3	2	2	4	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:2779537G>A	ENST00000380769.4	+	4	868	c.637G>A	c.(637-639)Gct>Act	p.A213T	WRNIP1_ENST00000380773.4_Missense_Mutation_p.A433T|WRNIP1_ENST00000380764.1_Missense_Mutation_p.A49T|WRNIP1_ENST00000380771.4_Missense_Mutation_p.A408T			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	433					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGACACCCTGGCTTACCTCAG	0.532													22	67					0	0	0	0	A	2779537	G	A	2779537	3	1	264	1	0	0	0	0	1	0	0	0	17499	1203	42	4	1311	4	WRNIP1	6	2779537	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08		2779537	168335530	34	47080											
MBOAT1	154141	broad.mit.edu	37	chr6	20124638	20124638	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagctactccatcaaacttaCctaatgtccatgcaaagtaa	15	10	4	12	0	1	0	1	0	0	0	3	0	3	0	3	0	5	3	3	0	6	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:20124638C>T	ENST00000541730.1	-	7	1056		c.e7+1		MBOAT1_ENST00000324607.7_Splice_Site			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1						phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ATCAAACTTACCTAATGTCCA	0.428													12	45					0	0	0	0	T	20124638	C	T	20124638	5	4	264	1	0	0	0	0	0	0	1	0	9425	521	18	4	603	4	MBOAT1	6	20124638	Splice_Site	SNP	C	TCGA-CV-6953-01A-11D-1912-08	17345101	20124638	150990429	35	47081											
KCTD20	222658	broad.mit.edu	37	chr6	36449469	36449469	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtgccacattgttgtgctGacggatgaggattctgtgga	8	12	15	6	1	1	2	0	2	1	0	1	6	1	5	1	3	2	2	1	3	0	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:36449469G>C	ENST00000373731.2	+	6	1180	c.789G>C	c.(787-789)ctG>ctC	p.L263L	KCTD20_ENST00000544295.1_Silent_p.L17L|KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000536244.1_Silent_p.L118L|KCTD20_ENST00000449081.2_Silent_p.L97L	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	263						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TTGTTGTGCTGACGGATGAGG	0.507													8	54					0	0	0	0	C	36449469	G	C	36449469	2	2	264	1	0	0	0	0	0	0	0	1	8161	1277	45	2		2	KCTD20	6	36449469	Silent	SNP	G	TCGA-CV-6953-01A-11D-1912-08	16324831	36449469	134665598	36	47082											
MEA1	4201	broad.mit.edu	37	chr6	42980233	42980233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcaggggatgcctgcCgggcttggagggctttctgt	4	10	17	10	1	1	0	0	0	1	0	2	2	2	2	3	6	2	3	3	6	0	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:42980233C>T	ENST00000244711.3	-	4	687	c.533G>A	c.(532-534)cGg>cAg	p.R178Q		NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	178					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGATGCCTGCCGGGCTTGGAG	0.582													37	172					0	0	0	0	T	42980233	C	T	42980233	3	4	264	1	0	0	0	0	1	0	0	0	9489	652	23	1	28	1	MEA1	6	42980233	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	6530764	42980233	128134834	37	47083											
SLC35F1	222553	broad.mit.edu	37	chr6	118228943	118228943	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgccgtcgccagccccGccgaaccatgtggtgaccac	7	4	11	19	5	0	1	0	1	0	0	1	2	0	1	8	1	3	0	8	1	1	0			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:118228943G>A	ENST00000360388.4	+	1	255	c.54G>A	c.(52-54)ccG>ccA	p.P18P		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	18					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CGCCAGCCCCGCCGAACCATG	0.746													14	16					0	0	0	0	A	118228943	G	A	118228943	2	1	264	1	0	0	0	0	0	0	0	1	14676	1074	38	1		1	SLC35F1	6	118228943	Silent	SNP	G	TCGA-CV-6953-01A-11D-1912-08	75248710	118228943	52886124	38	47084											
DNAH11	8701	broad.mit.edu	37	chr7	21639665	21639665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgatcttgtagaagaaatGttatgcaatagttttagaat	15	16	8	2	0	1	4	0	1	1	3	1	4	1	4	0	0	1	4	0	0	9	7			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:21639665G>T	ENST00000328843.6	+	15	2959	c.2928G>T	c.(2926-2928)atG>atT	p.M976I	DNAH11_ENST00000409508.3_Missense_Mutation_p.M976I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	976	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAGAAGAAATGTTATGCAATA	0.373									Kartagener syndrome				5	94					5.9392e-07	4.1959e-06	1	0	T	21639665	G	T	21639665	3	4	264	1	0	0	0	0	1	0	0	0	4636	1377	48	4	2986	4	DNAH11	7	21639665	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08		21639665	137498998	39	47085											
GTF2I	2969	broad.mit.edu	37	chr7	74105332	74105332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactggccaagtccaaagccGaagtggcctgcattgcagtg	11	7	12	11	1	0	0	0	0	0	0	1	1	1	0	4	2	4	2	4	2	4	1			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:74105332G>A	ENST00000324896.4	+	3	516	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	GTF2I_ENST00000443166.1_Missense_Mutation_p.E43K|GTF2I_ENST00000416070.1_Missense_Mutation_p.E43K|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.E43K|GTF2I_ENST00000353920.4_Missense_Mutation_p.E43K	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	43					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GTCCAAAGCCGAAGTGGCCTG	0.408													43	126					0	0	0	0	A	74105332	G	A	74105332	3	1	264	1	0	0	0	0	1	0	0	0	6917	1059	37	1	133	1	GTF2I	7	74105332	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	52465667	74105332	85033331	40	47086											
ZNF804B	219578	broad.mit.edu	37	chr7	88963666	88963666	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccacaccactcttcaatGgcctacggaacttctgctct	8	11	7	15	1	4	0	1	0	3	0	4	1	4	1	3	3	3	1	3	3	3	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:88963666G>C	ENST00000333190.4	+	4	1979	c.1370G>C	c.(1369-1371)tGg>tCg	p.W457S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	457						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACTCTTCAATGGCCTACGGAA	0.418										HNSCC(36;0.09)			12	63					0	0	0	0	C	88963666	G	C	88963666	3	2	264	1	0	0	0	0	1	0	0	0	18264	1357	47	4	1384	4	ZNF804B	7	88963666	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	14858334	88963666	70174997	41	47087											
TAS2R16	50833	broad.mit.edu	37	chr7	122635071	122635071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgctatgatgttgtatCtgcttggtcagtgatgccat	7	15	11	8	0	2	2	1	2	1	0	2	2	2	2	2	1	3	4	2	1	2	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:122635071C>A	ENST00000249284.2	-	1	683	c.618G>T	c.(616-618)caG>caT	p.Q206H		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	206					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATGTTGTATCTGCTTGGTCA	0.463													18	92					1.00905e-13	7.45026e-13	1	0	A	122635071	C	A	122635071	3	1	264	1	0	0	0	0	1	0	0	0	15660	912	32	2	261	2	TAS2R16	7	122635071	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	33671405	122635071	36503592	42	47088											
PAX4	5078	broad.mit.edu	37	chr7	127253563	127253563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttccacgggccactgaatCaggatactgcccacgctgga	9	8	10	14	2	1	1	1	1	0	0	2	3	2	3	3	3	2	1	3	3	2	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:127253563C>T	ENST00000341640.2	-	5	767	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PAX4_ENST00000378740.2_Missense_Mutation_p.D188N|PAX4_ENST00000463946.1_Missense_Mutation_p.D186N|PAX4_ENST00000338516.3_Missense_Mutation_p.D196N	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	196					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCACTGAATCAGGATACTGC	0.577													15	55					0	0	0	0	T	127253563	C	T	127253563	3	4	264	1	0	0	0	0	1	0	0	0	11552	826	29	2	489	2	PAX4	7	127253563	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	4618492	127253563	31885100	43	47089											
AGK	55750	broad.mit.edu	37	chr7	141333766	141333766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctttcagagatgctggCgtcaaagttagcaagtaaag	13	10	12	6	1	3	1	2	0	1	1	3	3	3	2	0	2	2	4	0	2	5	3	rs144977618		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:141333766C>T	ENST00000355413.4	+	10	914	c.654C>T	c.(652-654)ggC>ggT	p.G218G	AGK_ENST00000535825.1_Silent_p.G215G|AGK_ENST00000473247.1_Silent_p.G190G	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	218					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GAGATGCTGGCGTCAAAGTTA	0.368													22	60					0	0	0	0	T	141333766	C	T	141333766	2	4	264	1	0	0	0	0	0	0	0	1	383	755	27	1		1	AGK	7	141333766	Silent	SNP	C	TCGA-CV-6953-01A-11D-1912-08	14080203	141333766	17804897	44	47090											
SLC4A2	6522	broad.mit.edu	37	chr7	150771490	150771490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctgcccactcagatccGgcgggtgattggggactttg	5	10	15	11	2	1	2	1	1	0	1	2	3	2	3	3	4	2	0	3	4	0	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:150771490G>A	ENST00000485713.1	+	18	3835	c.2795G>A	c.(2794-2796)cGg>cAg	p.R932Q	SLC4A2_ENST00000461735.1_Missense_Mutation_p.R918Q|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R850Q|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R932Q|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R923Q	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	932	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			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)		ACTCAGATCCGGCGGGTGATT	0.597													35	98					0	0	0	0	A	150771490	G	A	150771490	3	1	264	1	0	0	0	0	1	0	0	0	14742	1116	39	1	2861	1	SLC4A2	7	150771490	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	9437724	150771490	8367173	45	47091											
NEIL2	252969	broad.mit.edu	37	chr8	11637389	11637389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttggtttgtttggcagcGtttgggtgaacgatttctcc	4	17	13	7	2	1	1	0	1	1	0	2	2	1	1	1	3	2	5	1	3	1	5	rs113905789		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr8:11637389G>A	ENST00000284503.6	+	3	1020	c.421G>A	c.(421-423)Gtt>Att	p.V141I	NEIL2_ENST00000436750.3_Missense_Mutation_p.V141I|NEIL2_ENST00000455213.2_Missense_Mutation_p.V141I|NEIL2_ENST00000403422.3_Missense_Mutation_p.V80I|NEIL2_ENST00000528323.1_Intron	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	141					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GTTTGGCAGCGTTTGGGTGAA	0.572								Base excision repair (BER), DNA glycosylases					34	75					0	0	0	0	A	11637389	G	A	11637389	3	1	264	1	0	0	0	0	1	0	0	0	10389	1145	40	1	432	1	NEIL2	8	11637389	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08		11637389	134726633	46	47092											
PSD3	23362	broad.mit.edu	37	chr8	18725364	18725364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgaccaccttctttaatgCgctgttgtatcattggagtg	8	15	9	9	1	2	1	1	1	1	0	2	2	2	2	2	1	1	3	2	1	2	6			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr8:18725364C>T	ENST00000440756.2	-	4	1556	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	PSD3_ENST00000327040.8_Missense_Mutation_p.R485H|PSD3_ENST00000523619.1_Missense_Mutation_p.R420H			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	485					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.R485H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCTTTAATGCGCTGTTGTAT	0.463													45	154					0	0	0	0	T	18725364	C	T	18725364	3	4	264	1	0	0	0	0	1	0	0	0	12727	768	27	1	1777	1	PSD3	8	18725364	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	7087975	18725364	127638658	47	47093											
DENND4C	55667	broad.mit.edu	37	chr9	19346744	19346744	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgctctagagaggagatCaagcctacctttagatcatg	12	11	9	9	0	4	3	3	0	1	3	4	5	4	3	2	1	3	1	2	1	4	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:19346744C>G	ENST00000307015.9	+	19	3293	c.1541C>G	c.(1540-1542)tCa>tGa	p.S514*	DENND4C_ENST00000380432.2_Nonsense_Mutation_p.S1041*|DENND4C_ENST00000540671.1_Nonsense_Mutation_p.S371*|DENND4C_ENST00000602925.1_Nonsense_Mutation_p.S1277*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.S1326*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1041						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAGAGGAGATCAAGCCTACCT	0.433													12	93					0	0	0	0	G	19346744	C	G	19346744	4	3	264	1	0	0	0	0	0	1	0	0	4472	838	29	2	3192	2	DENND4C	9	19346744	Nonsense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08		19346744	121866687	48	47094											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	6					0	0	0	0	A	21971120	G	A	21971120	4	1	264	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	2624376	21971120	119242311	49	47095											
KIF24	347240	broad.mit.edu	37	chr9	34290194	34290194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcttctatttaggaggtCataaagctgtccacagtaaa	12	15	7	7	0	3	0	1	0	2	0	4	1	4	1	1	2	1	2	1	2	6	8			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:34290194C>T	ENST00000379166.2	-	5	1224	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	KIF24_ENST00000402558.2_Missense_Mutation_p.D369N|KIF24_ENST00000379174.3_Intron|KIF24_ENST00000345050.2_Intron	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	369	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D369Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTAGGAGGTCATAAAGCTGT	0.413													22	82					0	0	0	0	T	34290194	C	T	34290194	3	4	264	1	0	0	0	0	1	0	0	0	8343	826	29	2	3037	2	KIF24	9	34290194	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	12319074	34290194	106923237	50	47096											
IARS	3376	broad.mit.edu	37	chr9	95043159	95043159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggaaagttacaaatactGaaggatcttgaacatcctga	17	9	9	6	0	1	3	0	3	1	0	2	5	2	5	1	2	3	1	1	2	7	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:95043159G>A	ENST00000375643.3	-	7	880	c.614C>T	c.(613-615)tCa>tTa	p.S205L	IARS_ENST00000447699.2_Missense_Mutation_p.S95L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.S205L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	205					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TACAAATACTGAAGGATCTTG	0.368													5	35					0	0	0	0	A	95043159	G	A	95043159	3	1	264	1	0	0	0	0	1	0	0	0	7526	1294	45	2	3286	2	IARS	9	95043159	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	60752965	95043159	46170272	51	47097											
ZNF462	58499	broad.mit.edu	37	chr9	109687520	109687520	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaataggttccagtgccccTtttgtcctttcctcaccatg	6	15	7	13	0	1	1	1	1	0	0	4	1	4	1	6	1	1	1	6	1	2	5			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr9:109687520T>C	ENST00000277225.5	+	3	1616	c.1327T>C	c.(1327-1329)Ttt>Ctt	p.F443L	ZNF462_ENST00000457913.1_Missense_Mutation_p.F443L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	443					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCAGTGCCCCTTTTGTCCTTT	0.463													3	150					0	0	0	0	C	109687520	T	C	109687520	3	2	264	1	0	0	0	0	1	0	0	0	18021	1609	56	5	1333	5	ZNF462	9	109687520	Missense_Mutation	SNP	T	TCGA-CV-6953-01A-11D-1912-08	14644361	109687520	31525911	52	47098											
CTNNAL1	8727	broad.mit.edu	37	chr9	111745573	111745573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttatgggctgattcgCagttaggatgcctcagacat	8	15	11	7	1	1	2	1	1	0	1	2	3	1	3	1	2	1	4	1	2	2	5			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:111745573C>T	ENST00000374595.4	-	6	831	c.752G>A	c.(751-753)tGc>tAc	p.C251Y	CTNNAL1_ENST00000325551.4_Missense_Mutation_p.C251Y|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.C251Y			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	251					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GGCTGATTCGCAGTTAGGATG	0.338													10	41					0	0	0	0	T	111745573	C	T	111745573	3	4	264	1	0	0	0	0	1	0	0	0	4047	710	25	4	1508	4	CTNNAL1	9	111745573	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	2058053	111745573	29467858	53	47099											
OLFM1	10439	broad.mit.edu	37	chr9	138011897	138011897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcgacatcccattccagaAcaaatactcccacatctcca	14	8	2	17	1	1	1	0	0	1	1	6	2	4	1	4	0	2	0	4	0	3	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:138011897A>G	ENST00000252854.4	+	6	1464	c.1277A>G	c.(1276-1278)aAc>aGc	p.N426S	OLFM1_ENST00000371796.3_Missense_Mutation_p.N417S|OLFM1_ENST00000371793.3_Missense_Mutation_p.N444S	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	444	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCATTCCAGAACAAATACTCC	0.537													13	82					0	0	0	0	G	138011897	A	G	138011897	3	3	264	1	0	0	0	0	1	0	0	0	10923	43	2	5	1309	5	OLFM1	9	138011897	Missense_Mutation	SNP	A	TCGA-CV-6953-01A-11D-1912-08	26266324	138011897	3201534	54	47100											
ITGB1	3688	broad.mit.edu	37	chr10	33211200	33211200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcacattgtatgcatcaatGatcaactgaattacattgct	13	14	5	9	0	3	2	3	2	0	0	3	2	3	2	0	0	4	3	0	0	5	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr10:33211200G>C	ENST00000396033.2	-	9	1248	c.1113C>G	c.(1111-1113)atC>atG	p.I371M	ITGB1_ENST00000374956.4_Missense_Mutation_p.I371M|ITGB1_ENST00000423113.1_Missense_Mutation_p.I371M|ITGB1_ENST00000302278.3_Missense_Mutation_p.I371M	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	371	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ATGCATCAATGATCAACTGAA	0.328													19	79					0	0	0	0	C	33211200	G	C	33211200	3	2	264	1	0	0	0	0	1	0	0	0	7943	1280	45	2	1553	2	ITGB1	10	33211200	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08		33211200	102323547	55	47101											
ZNF33B	7582	broad.mit.edu	37	chr10	43090020	43090020	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaacttacgtccatgttAaatggtattcctattacatt	14	15	5	7	1	0	1	0	0	0	1	2	1	2	1	2	1	3	2	2	1	8	7			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr10:43090020A>T	ENST00000359467.3	-	5	492	c.378T>A	c.(376-378)ttT>ttA	p.F126L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	126						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CGTCCATGTTAAATGGTATTC	0.348													11	66					0	0	0	0	T	43090020	A	T	43090020	3	4	264	1	0	0	0	0	1	0	0	0	17950	359	13	5	1962	5	ZNF33B	10	43090020	Missense_Mutation	SNP	A	TCGA-CV-6953-01A-11D-1912-08	9878820	43090020	92444727	56	47102											
PHYHIPL	84457	broad.mit.edu	37	chr10	61005100	61005100	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggatcaccaggagatGaattttgtaagcagcgcctt	10	11	12	8	1	1	2	1	1	0	1	1	4	1	3	2	2	2	2	2	2	2	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr10:61005100G>T	ENST00000373880.4	+	5	1144	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	PHYHIPL_ENST00000373878.3_Nonsense_Mutation_p.E268*	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	294										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						ACCAGGAGATGAATTTTGTAA	0.403													19	55					9.95505e-16	7.51989e-15	1	0	T	61005100	G	T	61005100	4	4	264	1	0	0	0	0	0	1	0	0	11939	1291	45	2	930	2	PHYHIPL	10	61005100	Nonsense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	17915080	61005100	74529647	57	47103											
INPP5F	22876	broad.mit.edu	37	chr10	121582640	121582640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcatgcgactgcactacaGatacaaagaagcgagtggct	13	7	11	10	2	0	2	0	0	0	2	0	4	0	2	0	1	6	3	0	1	4	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr10:121582640G>C	ENST00000361976.2	+	18	2256	c.2090G>C	c.(2089-2091)aGa>aCa	p.R697T	INPP5F_ENST00000490818.1_3'UTR|INPP5F_ENST00000369080.3_Missense_Mutation_p.R87T	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	697							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGCACTACAGATACAAAGAA	0.403													3	58					0	0	0	0	C	121582640	G	C	121582640	3	2	264	1	0	0	0	0	1	0	0	0	7811	942	33	2	2160	2	INPP5F	10	121582640	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	60577540	121582640	13952107	58	47104											
OR51I2	390064	broad.mit.edu	37	chr11	5475541	5475541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccatgctacatacatgtcCtcatgtcaaatgtgtaccta	11	13	5	12	0	2	0	2	0	0	0	4	0	4	0	3	0	4	2	3	0	5	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:5475541C>A	ENST00000341449.2	+	1	904	c.823C>A	c.(823-825)Ctc>Atc	p.L275I	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATACATGTCCTCATGTCAAA	0.473													47	158					1.23713e-20	9.4911e-20	1	0	A	5475541	C	A	5475541	3	1	264	1	0	0	0	0	1	0	0	0	11172	681	24	4	825	4	OR51I2	11	5475541	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08		5475541	129530975	59	47105											
SLC1A2	6506	broad.mit.edu	37	chr11	35308365	35308365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgggctataaagatggCggctaccgcttcataaaggg	11	10	12	8	2	1	1	1	0	0	1	1	1	1	1	1	4	1	3	1	4	6	6			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:35308365C>T	ENST00000278379.3	-	8	1507	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	SLC1A2_ENST00000395750.1_Missense_Mutation_p.A400T|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A409T|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A400T	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	409					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ATAAAGATGGCGGCTACCGCT	0.468													17	141					0	0	0	0	T	35308365	C	T	35308365	3	4	264	1	0	0	0	0	1	0	0	0	14520	768	27	1	515	1	SLC1A2	11	35308365	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	29832824	35308365	99698151	60	47106											
OR5D18	219438	broad.mit.edu	37	chr11	55587492	55587492	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcttcgtggccatttgcaaCcctctgctctacacagttaa	8	12	7	14	2	2	0	0	0	2	0	3	0	2	0	2	1	4	4	2	1	3	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:55587492C>T	ENST00000333976.4	+	1	407	c.387C>T	c.(385-387)aaC>aaT	p.N129N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCATTTGCAACCCTCTGCTCT	0.478													44	159					0	0	0	0	T	55587492	C	T	55587492	2	4	264	1	0	0	0	0	0	0	0	1	11228	506	18	4		4	OR5D18	11	55587492	Silent	SNP	C	TCGA-CV-6953-01A-11D-1912-08	20279127	55587492	79419024	61	47107											
OR4D6	219983	broad.mit.edu	37	chr11	59225310	59225310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctattccctgagaaatcaaGagatgaagtcagccatgcag	14	9	9	9	0	3	3	2	2	1	2	4	5	4	3	2	0	2	1	2	0	4	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:59225310G>A	ENST00000300127.2	+	1	900	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GAGAAATCAAGAGATGAAGTC	0.522													44	117					0	0	0	0	A	59225310	G	A	59225310	3	1	264	1	0	0	0	0	1	0	0	0	11129	943	33	2	879	2	OR4D6	11	59225310	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	3637818	59225310	75781206	62	47108											
KIAA1377	57562	broad.mit.edu	37	chr11	101832944	101832944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaaactagcactatgaGgacaactgactccacttctg	12	10	7	12	0	2	3	0	3	2	0	3	4	3	4	1	1	3	1	1	1	4	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:101832944G>T	ENST00000263468.8	+	6	1448	c.1178G>T	c.(1177-1179)aGg>aTg	p.R393M	KIAA1377_ENST00000537689.1_Missense_Mutation_p.R194M	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	393							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGCACTATGAGGACAACTGAC	0.388													8	45					0.000274275	0.00184478	1	0	T	101832944	G	T	101832944	3	4	264	1	0	0	0	0	1	0	0	0	8278	1000	35	4	1200	4	KIAA1377	11	101832944	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	42607634	101832944	33173572	63	47109											
ARHGEF12	23365	broad.mit.edu	37	chr11	120291479	120291479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtcttgttcagcgttgcGtaatcatccagaaagatgac	11	11	10	9	2	3	3	2	1	1	2	4	3	4	3	1	1	2	3	1	1	2	4	rs34754222		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:120291479G>A	ENST00000397843.2	+	5	383	c.217G>A	c.(217-219)Gta>Ata	p.V73I	ARHGEF12_ENST00000532993.1_5'UTR|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.V54I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	73	PDZ.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TCAGCGTTGCGTAATCATCCA	0.383			T	MLL	AML								23	48					0	0	0	0	A	120291479	G	A	120291479	3	1	264	1	0	0	0	0	1	0	0	0	899	1145	40	1	235	1	ARHGEF12	11	120291479	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	18458535	120291479	14715037	64	47110											
ACRBP	84519	broad.mit.edu	37	chr12	6749669	6749669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtagacatgtgtcgcCgcccaaggctgtcacagacc	10	6	11	14	2	1	2	1	0	0	2	2	2	1	2	3	2	0	2	3	2	2	1			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:6749669C>T	ENST00000229243.2	-	7	1190	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	ACRBP_ENST00000414226.2_Missense_Mutation_p.R333Q|ACRBP_ENST00000542357.1_5'UTR	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	366						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CATGTGTCGCCGCCCAAGGCT	0.637													8	23					0	0	0	0	T	6749669	C	T	6749669	3	4	264	1	0	0	0	0	1	0	0	0	170	652	23	1	550	1	ACRBP	12	6749669	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08		6749669	127102226	65	47111											
CLEC12B	387837	broad.mit.edu	37	chr12	10167883	10167883	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatgtcctaagatgtggCaatggtaccaaaatagttgc	13	11	9	8	0	0	1	0	0	0	1	2	1	2	1	3	2	2	3	3	2	6	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:10167883C>T	ENST00000396502.1	+	4	570	c.442C>T	c.(442-444)Caa>Taa	p.Q148*	RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Nonsense_Mutation_p.Q148*	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	148						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TAAGATGTGGCAATGGTACCA	0.388													23	94					0	0	0	0	T	10167883	C	T	10167883	4	4	264	1	0	0	0	0	0	1	0	0	3528	711	25	4	456	4	CLEC12B	12	10167883	Nonsense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	3418214	10167883	123684012	66	47112											
PTPRO	5800	broad.mit.edu	37	chr12	15742441	15742441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctggacaggctcttgcagCacattcgggatcatgagttt	8	11	11	11	1	2	1	1	1	1	0	3	3	2	3	1	3	2	4	1	3	0	3	rs61757814		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:15742441C>T	ENST00000281171.4	+	25	3793	c.3463C>T	c.(3463-3465)Cac>Tac	p.H1155Y	PTPRO_ENST00000442921.2_Missense_Mutation_p.H344Y|PTPRO_ENST00000544244.1_Missense_Mutation_p.H316Y|PTPRO_ENST00000542557.1_Missense_Mutation_p.H316Y|PTPRO_ENST00000348962.2_Missense_Mutation_p.H1127Y|PTPRO_ENST00000445537.2_Missense_Mutation_p.H344Y	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1155	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCTCTTGCAGCACATTCGGGA	0.463													29	77					0	0	0	0	T	15742441	C	T	15742441	3	4	264	1	0	0	0	0	1	0	0	0	12891	710	25	4	3561	4	PTPRO	12	15742441	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	5574558	15742441	118109454	67	47113											
ABCC9	10060	broad.mit.edu	37	chr12	21981956	21981956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaatgttgtttgtatccGtcagttccagcatacgttgt	8	15	10	8	2	1	0	1	0	0	0	3	0	3	0	2	1	2	7	2	1	3	6			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:21981956G>A	ENST00000261200.4	-	29	3604	c.3605C>T	c.(3604-3606)aCg>aTg	p.T1202M	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.T1202M|ABCC9_ENST00000345162.2_Missense_Mutation_p.T1166M	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1202	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.L1201fs*33(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTTTGTATCCGTCAGTTCCAG	0.413													19	95					0	0	0	0	A	21981956	G	A	21981956	3	1	264	1	0	0	0	0	1	0	0	0	59	1145	40	1	1226	1	ABCC9	12	21981956	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	6239515	21981956	111869939	68	47114											
DENND5B	160518	broad.mit.edu	37	chr12	31552693	31552693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgaacagtggtcagcttcCccaagttctggcactgtagg	8	11	11	11	0	3	1	1	1	2	0	4	1	4	1	2	3	2	4	2	3	3	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:31552693C>T	ENST00000389082.5	-	16	3227	c.2963G>A	c.(2962-2964)gGg>gAg	p.G988E	DENND5B_ENST00000306833.6_Missense_Mutation_p.G1023E|DENND5B_ENST00000536562.1_Missense_Mutation_p.G1023E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	988	PLAT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTCAGCTTCCCCAAGTTCTG	0.443													5	33					0	0	0	0	T	31552693	C	T	31552693	3	4	264	1	0	0	0	0	1	0	0	0	4474	623	22	4	885	4	DENND5B	12	31552693	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	9570737	31552693	102299202	69	47115											
ESPL1	9700	broad.mit.edu	37	chr12	53671305	53671305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtaacttggaggaatttGaagtcaatgacctgaactat	13	12	10	6	0	1	3	1	3	0	0	1	5	1	5	1	3	2	1	1	3	6	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:53671305G>A	ENST00000257934.4	+	10	2228	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K	ESPL1_ENST00000552462.1_Missense_Mutation_p.E713K	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	713					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGAGGAATTTGAAGTCAATGA	0.502													16	38					0	0	0	0	A	53671305	G	A	53671305	3	1	264	1	0	0	0	0	1	0	0	0	5291	1291	45	2	2171	2	ESPL1	12	53671305	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	22118612	53671305	80180590	70	47116											
PDE1B	5153	broad.mit.edu	37	chr12	54968993	54968993	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggccctcatggaggaattCttccgtcaggtagcgtggca	9	9	13	10	2	3	0	2	0	1	0	4	2	4	2	2	5	1	2	2	5	3	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:54968993C>G	ENST00000243052.3	+	11	1612	c.1176C>G	c.(1174-1176)ttC>ttG	p.F392L	PDE1B_ENST00000538346.1_Missense_Mutation_p.F351L|PDE1B_ENST00000550620.1_Missense_Mutation_p.F372L|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	392	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.F392L(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGGAGGAATTCTTCCGTCAGG	0.577													27	85					0	0	0	0	G	54968993	C	G	54968993	3	3	264	1	0	0	0	0	1	0	0	0	11705	912	32	2	1271	2	PDE1B	12	54968993	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	1297688	54968993	78882902	71	47117											
CDK4	1019	broad.mit.edu	37	chr12	58143273	58143273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actggtcggcttcagagtttCcacagaagagaggcctaagg	11	8	13	9	1	1	3	1	0	0	3	3	4	2	3	2	4	0	2	2	4	2	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:58143273C>T	ENST00000257904.6	-	6	1012	c.647G>A	c.(646-648)gGa>gAa	p.G216E	CDK4_ENST00000312990.6_Missense_Mutation_p.E99K|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000549606.1_5'UTR|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000540325.1_Missense_Mutation_p.G96E	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	216	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TTCAGAGTTTCCACAGAAGAG	0.418			Mis			melanoma			Hereditary Melanoma				6	29					0	0	0	0	T	58143273	C	T	58143273	3	4	264	1	0	0	0	0	1	0	0	0	3170	855	30	2	276	2	CDK4	12	58143273	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	3174280	58143273	75708622	72	47118											
SYT1	6857	broad.mit.edu	37	chr12	79685859	79685859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacccaaagaagaggaGaaactgggaaaacttcagta	20	4	11	6	0	1	4	1	0	0	4	1	7	1	5	1	2	3	1	1	2	8	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:79685859G>T	ENST00000261205.4	+	6	1080	c.423G>T	c.(421-423)gaG>gaT	p.E141D	SYT1_ENST00000552744.1_Missense_Mutation_p.E141D|SYT1_ENST00000393240.3_Missense_Mutation_p.E141D|SYT1_ENST00000457153.2_Missense_Mutation_p.E138D	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	141	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAGAAGAGGAGAAACTGGGAA	0.368													10	37					7.48243e-07	5.24839e-06	1	0	T	79685859	G	T	79685859	3	4	264	1	0	0	0	0	1	0	0	0	15556	933	33	2	433	2	SYT1	12	79685859	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	21542586	79685859	54166036	73	47119											
PSPC1	55269	broad.mit.edu	37	chr13	20325582	20325582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaatgtcccaggttgagCaaaacgtggtggttgttctc	9	13	11	8	1	2	1	1	1	1	0	4	1	3	1	1	3	2	4	1	3	3	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr13:20325582C>A	ENST00000338910.4	-	4	955	c.796G>T	c.(796-798)Gct>Tct	p.A266S		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	266	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		CCAGGTTGAGCAAAACGTGGT	0.378													12	41					0.000978159	0.00644666	1	0	A	20325582	C	A	20325582	3	1	264	1	0	0	0	0	1	0	0	0	12795	710	25	4	799	4	PSPC1	13	20325582	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08		20325582	94844296	74	47120											
ATP7B	540	broad.mit.edu	37	chr13	52542595	52542595	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactgtcagctcaatgttGccatcggagcctgcgtagtc	7	12	10	12	2	2	0	2	0	0	0	4	1	2	1	2	1	5	3	2	1	3	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr13:52542595G>A	ENST00000242839.4	-	4	1848	c.1692C>T	c.(1690-1692)ggC>ggT	p.G564G	ATP7B_ENST00000344297.5_Silent_p.G564G|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000448424.2_Silent_p.G564G|ATP7B_ENST00000418097.2_Silent_p.G564G|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Silent_p.G453G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	564					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCTCAATGTTGCCATCGGAGC	0.498									Wilson disease				8	39					0	0	0	0	A	52542595	G	A	52542595	2	1	264	1	0	0	0	0	0	0	0	1	1195	1306	46	4		4	ATP7B	13	52542595	Silent	SNP	G	TCGA-CV-6953-01A-11D-1912-08	32217013	52542595	62627283	75	47121											
DACH1	1602	broad.mit.edu	37	chr13	72053410	72053410	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagttggacctgtttctcTtgagctctggcattatctat	6	17	8	10	0	3	1	0	1	3	0	5	2	4	2	2	2	1	4	2	2	2	5			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr13:72053410T>C	ENST00000305425.4	-	8	2189	c.1767A>G	c.(1765-1767)caA>caG	p.Q589Q	DACH1_ENST00000359684.2_Silent_p.Q641Q|DACH1_ENST00000354591.4_Silent_p.Q387Q|DACH1_ENST00000313174.7_Silent_p.Q441Q	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	639					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCTGTTTCTCTTGAGCTCTGG	0.373													20	86					0	0	0	0	C	72053410	T	C	72053410	2	2	264	1	0	0	0	0	0	0	0	1	4253	1606	56	5		5	DACH1	13	72053410	Silent	SNP	T	TCGA-CV-6953-01A-11D-1912-08	19510815	72053410	43116468	76	47122											
MYH7	4625	broad.mit.edu	37	chr14	23886750	23886750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcttgtccagggctgcagCagcagcattggagcgctcta	7	10	12	12	1	2	0	0	0	2	0	3	1	3	1	1	2	5	6	1	2	1	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:23886750C>T	ENST00000355349.3	-	31	4477	c.4315G>A	c.(4315-4317)Gct>Act	p.A1439T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1439					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		AGGGCTGCAGCAGCAGCATTG	0.602													17	86					0	0	0	0	T	23886750	C	T	23886750	3	4	264	1	0	0	0	0	1	0	0	0	10109	710	25	4	1532	4	MYH7	14	23886750	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08		23886750	83462790	77	47123											
PRKD1	5587	broad.mit.edu	37	chr14	30135410	30135410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagtcttcaaaggtggcGgaagctgtaaaaatagtgat	15	10	12	4	1	2	2	1	2	1	0	2	3	2	3	0	3	1	2	0	3	7	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:30135410G>A	ENST00000331968.5	-	3	637	c.408C>T	c.(406-408)tcC>tcT	p.S136S	PRKD1_ENST00000415220.2_Silent_p.S136S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	136					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAAAGGTGGCGGAAGCTGTAA	0.403													19	52					0	0	0	0	A	30135410	G	A	30135410	2	1	264	1	0	0	0	0	0	0	0	1	12598	1103	39	1		1	PRKD1	14	30135410	Silent	SNP	G	TCGA-CV-6953-01A-11D-1912-08	6248660	30135410	77214130	78	47124											
FBXO34	55030	broad.mit.edu	37	chr14	55818744	55818744	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagtacattaccagtgcttGaggcatccagttggaagaag	14	9	11	7	0	0	2	0	1	0	1	1	3	1	3	2	2	3	4	2	2	5	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:55818744G>C	ENST00000313833.4	+	2	1881	c.1636G>C	c.(1636-1638)Gag>Cag	p.E546Q	FBXO34_ENST00000440021.1_Missense_Mutation_p.E546Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	546										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ACCAGTGCTTGAGGCATCCAG	0.507													41	122					0	0	0	0	C	55818744	G	C	55818744	3	2	264	1	0	0	0	0	1	0	0	0	5789	1291	45	2	1638	2	FBXO34	14	55818744	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	25683334	55818744	51530796	79	47125											
ZFYVE26	23503	broad.mit.edu	37	chr14	68215205	68215205	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtggcttgtcagaagcCactgggcacagatgtcttgc	7	9	16	9	0	2	2	1	0	1	2	2	2	2	2	1	4	2	2	1	4	1	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:68215205C>T	ENST00000347230.4	-	42	7706	c.7568G>A	c.(7567-7569)tGg>tAg	p.W2523*		NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2523					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGTCAGAAGCCACTGGGCACA	0.642													4	64					0	0	0	0	T	68215205	C	T	68215205	4	4	264	1	0	0	0	0	0	1	0	0	17763	595	21	4	55	4	ZFYVE26	14	68215205	Nonsense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	12396461	68215205	39134335	80	47126											
CPSF2	53981	broad.mit.edu	37	chr14	92601740	92601740	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcctgtctatcacacctCtgccagctggtcatatgata	9	12	8	12	0	4	1	2	1	2	0	4	1	4	1	3	2	2	1	3	2	3	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:92601740C>T	ENST00000298875.4	+	6	730	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	149					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TATCACACCTCTGCCAGCTGG	0.368													14	57					0	0	0	0	T	92601740	C	T	92601740	2	4	264	1	0	0	0	0	0	0	0	1	3855	912	32	2		2	CPSF2	14	92601740	Silent	SNP	C	TCGA-CV-6953-01A-11D-1912-08	24386535	92601740	14747800	81	47127											
SHC4	399694	broad.mit.edu	37	chr15	49127202	49127202	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggctgtggcacccggctGaacagtttctggtgcctctg	4	11	14	12	1	2	1	0	1	2	0	2	1	2	1	2	4	2	4	2	4	1	1			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr15:49127202G>A	ENST00000332408.4	-	11	1929	c.1501C>T	c.(1501-1503)Cag>Tag	p.Q501*	SHC4_ENST00000537958.1_Nonsense_Mutation_p.Q215*|SHC4_ENST00000396535.3_Nonsense_Mutation_p.Q258*	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	501	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GCACCCGGCTGAACAGTTTCT	0.468													4	11					0	0	0	0	A	49127202	G	A	49127202	4	1	264	1	0	0	0	0	0	1	0	0	14361	1299	45	2	399	2	SHC4	15	49127202	Nonsense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08		49127202	53404190	82	47128											
SECISBP2L	9728	broad.mit.edu	37	chr15	49288750	49288750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttatatgctttcctggcctCctcagtgagttctactaatt	7	18	6	10	0	2	1	1	1	1	0	4	1	4	1	3	1	2	2	3	1	4	8			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr15:49288750C>T	ENST00000559471.1	-	17	2700	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E768K	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	813										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTCCTGGCCTCCTCAGTGAGT	0.368													55	192					0	0	0	0	T	49288750	C	T	49288750	3	4	264	1	0	0	0	0	1	0	0	0	14094	864	30	2	876	2	SECISBP2L	15	49288750	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	161548	49288750	53242642	83	47129											
THSD4	79875	broad.mit.edu	37	chr15	72039251	72039251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgccaggttctgtgccGccaggtgtacgccaaccgca	7	6	12	16	4	1	0	0	0	1	0	1	0	1	0	6	2	3	4	6	2	2	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr15:72039251G>T	ENST00000355327.3	+	13	2245	c.2111G>T	c.(2110-2112)cGc>cTc	p.R704L	THSD4_ENST00000357769.4_Missense_Mutation_p.R344L|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R704L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	704	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTTCTGTGCCGCCAGGTGTAC	0.627													13	27					1.3612e-06	9.48015e-06	1	0	T	72039251	G	T	72039251	3	4	264	1	0	0	0	0	1	0	0	0	15972	1087	38	3	2157	3	THSD4	15	72039251	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	22750501	72039251	30492141	84	47130											
CHSY1	22856	broad.mit.edu	37	chr15	101719133	101719133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttactgttatggagatctCtaatgtacccctttttgttc	7	20	6	8	0	1	1	0	0	1	1	3	2	1	1	2	1	2	3	2	1	4	8			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr15:101719133C>G	ENST00000254190.3	-	3	1344	c.869G>C	c.(868-870)aGa>aCa	p.R290T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	290					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.R290T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGGAGATCTCTAATGTACCC	0.398													13	57					0	0	0	0	G	101719133	C	G	101719133	3	3	264	1	0	0	0	0	1	0	0	0	3441	913	32	2	1543	2	CHSY1	15	101719133	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	29679882	101719133	812259	85	47131											
ABCA3	21	broad.mit.edu	37	chr16	2347779	2347779	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccacaccttggagcctgcGatgagggcgatgccgatgga	8	6	15	12	4	0	1	0	1	0	0	0	6	0	3	4	3	3	0	4	3	0	1			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:2347779G>A	ENST00000301732.5	-	16	2740	c.2040C>T	c.(2038-2040)atC>atT	p.I680I	ABCA3_ENST00000382381.3_Silent_p.I622I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	680	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGGAGCCTGCGATGAGGGCGA	0.662													10	54					0	0	0	0	A	2347779	G	A	2347779	2	1	264	1	0	0	0	0	0	0	0	1	33	1048	37	1		1	ABCA3	16	2347779	Silent	SNP	G	TCGA-CV-6953-01A-11D-1912-08		2347779	88006974	86	47132											
ZNF174	7727	broad.mit.edu	37	chr16	3452371	3452371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgtgaccctcgtggaaGattttcacagagcatccaag	12	10	10	9	1	1	4	1	1	0	3	3	5	2	5	2	1	1	1	2	1	2	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:3452371G>T	ENST00000268655.4	+	1	952	c.367G>T	c.(367-369)Gat>Tat	p.D123Y	LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000575752.1_Missense_Mutation_p.D123Y|ZNF174_ENST00000571936.1_Missense_Mutation_p.D123Y|ZNF174_ENST00000572544.1_Missense_Mutation_p.D123Y|ZNF174_ENST00000344823.5_Missense_Mutation_p.D123Y	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	123	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCTCGTGGAAGATTTTCACAG	0.488													20	50					1.55795e-14	1.15902e-13	1	0	T	3452371	G	T	3452371	3	4	264	1	0	0	0	0	1	0	0	0	17839	942	33	2	369	2	ZNF174	16	3452371	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	1104592	3452371	86902382	87	47133											
NOD2	64127	broad.mit.edu	37	chr16	50745602	50745602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaaaggtgtcgtgccaGggagtacggcgcccctggaa	8	6	16	11	3	0	0	0	0	0	0	1	2	0	2	4	4	3	1	4	4	3	1			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:50745602G>A	ENST00000300589.2	+	4	1885	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	594	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGTCGTGCCAGGGAGTACGGC	0.577													10	26					0	0	0	0	A	50745602	G	A	50745602	3	1	264	1	0	0	0	0	1	0	0	0	10587	1000	35	4	1794	4	NOD2	16	50745602	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	47293231	50745602	39609151	88	47134											
RBL2	5934	broad.mit.edu	37	chr16	53524139	53524139	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtgaatcacctgcaaaaaGaatttgcccagaaaatcatt	18	9	6	8	0	2	3	2	1	0	2	2	3	2	3	2	0	2	1	2	0	7	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:53524139G>C	ENST00000262133.6	+	22	3484	c.3347G>C	c.(3346-3348)aGa>aCa	p.R1116T	RBL2_ENST00000544545.1_Missense_Mutation_p.R495T|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1116					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCTGCAAAAAGAATTTGCCCA	0.393													21	49					0	0	0	0	C	53524139	G	C	53524139	3	2	264	1	0	0	0	0	1	0	0	0	13192	942	33	2	3433	2	RBL2	16	53524139	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	2778537	53524139	36830614	89	47135											
SLC38A8	146167	broad.mit.edu	37	chr16	84065527	84065527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagaggtagtactgcaCggtgatgaccagggccaggt	9	6	17	9	1	0	3	0	2	0	1	0	3	0	3	3	5	2	3	3	5	2	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:84065527C>T	ENST00000299709.3	-	4	576	c.577G>A	c.(577-579)Gtg>Atg	p.V193M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	193					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TAGTACTGCACGGTGATGACC	0.622													15	55					0	0	0	0	T	84065527	C	T	84065527	3	4	264	1	0	0	0	0	1	0	0	0	14698	536	19	1	758	1	SLC38A8	16	84065527	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	30541388	84065527	6289226	90	47136											
OR1E2	8388	broad.mit.edu	37	chr17	3336564	3336564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccagcttcagcagagcaGacatatcacagaaaaagtgg	16	5	11	9	0	2	3	2	0	0	3	2	3	2	3	1	2	3	3	1	2	3	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:3336564G>T	ENST00000248384.1	-	1	571	c.572C>A	c.(571-573)tCt>tAt	p.S191Y		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	191					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						CAGCAGAGCAGACATATCACA	0.468													18	27					4.75885e-15	3.56732e-14	1	0	T	3336564	G	T	3336564	3	4	264	1	0	0	0	0	1	0	0	0	11026	942	33	2	402	2	OR1E2	17	3336564	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08		3336564	77858646	91	47137											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	44					0	0	0	0	A	7577539	G	A	7577539	3	1	264	1	0	0	0	0	1	0	0	0	16476	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	4240975	7577539	73617671	92	47138											
PER1	5187	broad.mit.edu	37	chr17	8053316	8053316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgacacaggccagtgCgtactgcagcgtggccaggg	7	7	15	12	2	0	1	0	1	0	0	0	1	0	1	2	3	5	3	2	3	1	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:8053316C>T	ENST00000317276.4	-	4	739	c.502G>A	c.(502-504)Gca>Aca	p.A168T	PER1_ENST00000581082.1_Missense_Mutation_p.A168T|PER1_ENST00000354903.5_Missense_Mutation_p.A152T	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	168					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGGCCAGTGCGTACTGCAGC	0.627			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					41	102					0	0	0	0	T	8053316	C	T	8053316	3	4	264	1	0	0	0	0	1	0	0	0	11800	768	27	1	3450	1	PER1	17	8053316	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	475777	8053316	73141894	93	47139											
TEKT3	64518	broad.mit.edu	37	chr17	15215733	15215733	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcttagcggaagctgccCgttcactctgggagcggaga	8	9	14	10	3	2	1	1	0	1	1	2	4	2	3	1	3	5	3	1	3	3	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:15215733C>A	ENST00000395930.1	-	7	1130	c.944G>T	c.(943-945)cGg>cTg	p.R315L	TEKT3_ENST00000338696.2_Missense_Mutation_p.R315L	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	315					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.R315Q(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GGAAGCTGCCCGTTCACTCTG	0.458													20	57					1.33834e-09	9.66358e-09	1	0	A	15215733	C	A	15215733	3	1	264	1	0	0	0	0	1	0	0	0	15848	652	23	3	540	3	TEKT3	17	15215733	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	7162417	15215733	65979477	94	47140											
TEKT3	64518	broad.mit.edu	37	chr17	15234646	15234646	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtgaagaaagtggttctgTtggaaacaaagggaagcatg	14	10	14	3	0	1	2	0	1	1	1	1	4	1	4	0	3	2	3	0	3	5	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:15234646T>C	ENST00000395930.1	-	3	443	c.257A>G	c.(256-258)aAc>aGc	p.N86S	TEKT3_ENST00000338696.2_Missense_Mutation_p.N86S	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	86					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		AGTGGTTCTGTTGGAAACAAA	0.478													31	67					0	0	0	0	C	15234646	T	C	15234646	3	2	264	1	0	0	0	0	1	0	0	0	15848	1725	60	5	1243	5	TEKT3	17	15234646	Missense_Mutation	SNP	T	TCGA-CV-6953-01A-11D-1912-08	18913	15234646	65960564	95	47141											
KRT37	8688	broad.mit.edu	37	chr17	39580482	39580482	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcatggccattcagggtGtttttgccgtaggccccaca	6	13	10	12	1	2	0	2	0	1	0	3	0	2	0	4	3	1	2	4	3	1	5			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:39580482G>A	ENST00000225550.3	-	1	293	c.294C>T	c.(292-294)aaC>aaT	p.N98N	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	98	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CATTCAGGGTGTTTTTGCCGT	0.582													21	68					0	0	0	0	A	39580482	G	A	39580482	2	1	264	1	0	0	0	0	0	0	0	1	8526	1368	48	4		4	KRT37	17	39580482	Silent	SNP	G	TCGA-CV-6953-01A-11D-1912-08	24345836	39580482	41614728	96	47142											
KRT35	3886	broad.mit.edu	37	chr17	39635675	39635675	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaggtcagacttgcacAgggtcaggtcatccaggatc	9	8	11	13	0	3	1	3	0	0	1	6	2	5	2	3	4	1	1	3	4	0	1			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:39635675A>C	ENST00000246639.2	-	3	677	c.545T>G	c.(544-546)cTg>cGg	p.L182R	KRT35_ENST00000393989.1_Missense_Mutation_p.L212R			Q92764	KRT35_HUMAN	keratin 35	212	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				AGACTTGCACAGGGTCAGGTC	0.597													18	82					0	0	0	0	C	39635675	A	C	39635675	3	2	264	1	0	0	0	0	1	0	0	0	8524	188	7	5	752	5	KRT35	17	39635675	Missense_Mutation	SNP	A	TCGA-CV-6953-01A-11D-1912-08	55193	39635675	41559535	97	47143											
WNT3	7473	broad.mit.edu	37	chr17	44845801	44845801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccgtcctcgtgttgtggCcccggccacagcagagcaga	6	8	12	15	3	1	2	0	0	1	2	4	2	2	2	5	2	2	3	5	2	0	1			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:44845801C>T	ENST00000225512.5	-	4	1115	c.953G>A	c.(952-954)gGc>gAc	p.G318D		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	318					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CGTGTTGTGGCCCCGGCCACA	0.592													31	117					0	0	0	0	T	44845801	C	T	44845801	3	4	264	1	0	0	0	0	1	0	0	0	17484	739	26	4	118	4	WNT3	17	44845801	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	5210126	44845801	36349409	98	47144											
QRICH2	84074	broad.mit.edu	37	chr17	74289852	74289852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcacgccagcttcatcaCgggccctcggctgctgctgt	4	9	13	15	3	2	0	2	0	0	0	3	0	2	0	2	3	3	5	2	3	0	1	rs138229886		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:74289852C>T	ENST00000262765.5	-	4	637	c.458G>A	c.(457-459)cGt>cAt	p.R153H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	153							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGCTTCATCACGGGCCCTCGG	0.542													14	50					0	0	0	0	T	74289852	C	T	74289852	3	4	264	1	0	0	0	0	1	0	0	0	12962	536	19	1	4597	1	QRICH2	17	74289852	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	29444051	74289852	6905358	99	47145											
ATP8B3	148229	broad.mit.edu	37	chr19	1796851	1796851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcagcttcccgtcggCgaacttgttccagaggtagg	9	8	14	10	3	0	2	0	0	0	2	3	4	2	2	2	3	3	4	2	3	3	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:1796851C>T	ENST00000539485.1	-	16	1845	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	ATP8B3_ENST00000525591.1_Missense_Mutation_p.A491T|ATP8B3_ENST00000310127.6_Missense_Mutation_p.A538T			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	538					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TTCCCGTCGGCGAACTTGTTC	0.721													7	20					0	0	0	0	T	1796851	C	T	1796851	3	4	264	1	0	0	0	0	1	0	0	0	1200	768	27	1	2376	1	ATP8B3	19	1796851	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08		1796851	57332132	100	47146											
PRKACA	5566	broad.mit.edu	37	chr19	14213716	14213716	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtgttcgatctgtttcAgtttcaccacctgggaaggg	6	13	14	8	1	3	0	2	0	1	0	4	2	3	1	2	3	0	3	2	3	1	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:14213716A>G	ENST00000308677.4	-	4	444	c.248T>C	c.(247-249)cTg>cCg	p.L83P	PRKACA_ENST00000589994.1_Missense_Mutation_p.L75P|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	83	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GATCTGTTTCAGTTTCACCAC	0.562													23	81					0	0	0	0	G	14213716	A	G	14213716	3	3	264	1	0	0	0	0	1	0	0	0	12577	188	7	5	835	5	PRKACA	19	14213716	Missense_Mutation	SNP	A	TCGA-CV-6953-01A-11D-1912-08	12416865	14213716	44915267	101	47147											
CYP4F12	66002	broad.mit.edu	37	chr19	15806808	15806808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagagcctgaggttacatcCcccagctcccttcatctccc	7	9	8	17	0	2	2	1	1	1	1	5	3	4	2	5	2	3	2	5	2	1	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:15806808C>T	ENST00000550308.1	+	10	1558	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	CYP4F12_ENST00000324632.9_Missense_Mutation_p.P393L	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGGTTACATCCCCCAGCTCCC	0.597													27	61					0	0	0	0	T	15806808	C	T	15806808	3	4	264	1	0	0	0	0	1	0	0	0	4219	623	22	4	1212	4	CYP4F12	19	15806808	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	1593092	15806808	43322175	102	47148											
ZNF208	7757	broad.mit.edu	37	chr19	22156897	22156897	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccacattctttacatttGtagggcttctctccagcatg	7	16	7	11	0	2	0	0	0	2	0	4	0	3	0	2	1	3	3	2	1	2	7			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:22156897G>T	ENST00000397126.4	-	4	1087	c.939C>A	c.(937-939)taC>taA	p.Y313*	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTTTACATTTGTAGGGCTTCT	0.418													9	48					2.17888e-05	0.000149626	1	0	T	22156897	G	T	22156897	4	4	264	1	0	0	0	0	0	1	0	0	17861	1372	48	4	2907	4	ZNF208	19	22156897	Nonsense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	6350089	22156897	36972086	103	47149											
SLC7A9	11136	broad.mit.edu	37	chr19	33334841	33334841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcatgtgaccctcccggcCcgccacgtaaatgagtctgg	8	7	12	14	3	1	2	0	2	1	0	2	3	2	2	4	2	1	2	4	2	2	1			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:33334841C>T	ENST00000023064.4	-	10	1185	c.994G>A	c.(994-996)Ggc>Agc	p.G332S	SLC7A9_ENST00000587772.1_Missense_Mutation_p.G332S|SLC7A9_ENST00000590341.1_Missense_Mutation_p.G332S	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	332					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CCCTCCCGGCCCGCCACGTAA	0.567													7	28					0	0	0	0	T	33334841	C	T	33334841	3	4	264	1	0	0	0	0	1	0	0	0	14793	623	22	4	485	4	SLC7A9	19	33334841	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	11177944	33334841	25794142	104	47150											
KIAA0355	9710	broad.mit.edu	37	chr19	34791871	34791871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcagtctccaggacattGaggtagagtatcttttgtgt	10	15	10	6	0	3	2	1	1	2	1	4	3	3	3	1	2	0	2	1	2	3	6			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:34791871G>A	ENST00000299505.6	+	2	1366	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	165										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCAGGACATTGAGGTAGAGTA	0.393													10	43					0	0	0	0	A	34791871	G	A	34791871	3	1	264	1	0	0	0	0	1	0	0	0	8221	1291	45	2	495	2	KIAA0355	19	34791871	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	1457030	34791871	24337112	105	47151											
HNRNPL	3191	broad.mit.edu	37	chr19	39334716	39334716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccattgagagaggccttggCccgctgggcactttgaactg	7	9	13	12	1	0	3	0	2	0	1	0	4	0	3	3	3	1	2	3	3	1	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:39334716C>G	ENST00000221419.5	-	5	1105	c.739G>C	c.(739-741)Gcc>Ccc	p.A247P	HNRNPL_ENST00000600873.1_Missense_Mutation_p.A114P	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	247	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GAGGCCTTGGCCCGCTGGGCA	0.493													20	65					0	0	0	0	G	39334716	C	G	39334716	3	3	264	1	0	0	0	0	1	0	0	0	7320	739	26	4	1066	4	HNRNPL	19	39334716	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	4542845	39334716	19794267	106	47152											
PRR12	57479	broad.mit.edu	37	chr19	50102549	50102549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaagctgtctgtgcccaaGgctggcgagggtctgggaac	8	8	15	10	1	3	0	1	0	2	0	3	2	3	1	1	4	3	2	1	4	3	0			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:50102549G>A	ENST00000418929.2	+	5	3711	c.3699G>A	c.(3697-3699)aaG>aaA	p.K1233K		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	412							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)		CTGTGCCCAAGGCTGGCGAGG	0.617													6	22					0	0	0	0	A	50102549	G	A	50102549	2	1	264	1	0	0	0	0	0	0	0	1	12664	991	35	4		4	PRR12	19	50102549	Silent	SNP	G	TCGA-CV-6953-01A-11D-1912-08	10767833	50102549	9026434	107	47153											
ZNF880	400713	broad.mit.edu	37	chr19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-																															ccagagtggaggccccataaTtttttttttttttaaacagg																								rs77187934		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)atfs	p.I102fs	ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													6	5	---	---	---	---					-	52877717	T	-	52877717	7	5	264	1	0	1	0	1	0	0	0	0	18290	1508	52	0		0	ZNF880	19	52877717	Frame_Shift_Del	DEL	T	TCGA-CV-6953-01A-11D-1912-08	2775168	52877717	6251266	108	47154											
LILRB5	10990	broad.mit.edu	37	chr19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtggtgggggtggggAggcctgggggcctggagagg	5	5	26	5	1	0	1	0	0	0	1	0	4	0	3	2	11	1	0	2	11	1	0			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607													3	20					0	0	0	0	G	54754843	A	G	54754843	3	3	264	1	0	0	0	0	1	0	0	0	8848	319	11	5		5	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-CV-6953-01A-11D-1912-08	1877126	54754843	4374140	109	47155											
USP29	57663	broad.mit.edu	37	chr19	57642405	57642405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaatcaccttggggcactgGgttctgacaacccaggaaac	11	8	11	11	0	2	2	1	2	1	0	2	3	2	3	2	4	2	2	2	4	3	2	rs148519716		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:57642405G>T	ENST00000254181.4	+	4	2816	c.2362G>T	c.(2362-2364)Ggt>Tgt	p.G788C	USP29_ENST00000598197.1_Missense_Mutation_p.G788C	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	788					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGGGCACTGGGTTCTGACAA	0.458													14	31					3.27435e-08	2.33001e-07	1	0	T	57642405	G	T	57642405	3	4	264	1	0	0	0	0	1	0	0	0	17155	1232	43	4	2364	4	USP29	19	57642405	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	2887562	57642405	1486578	110	47156											
SLC4A11	83959	broad.mit.edu	37	chr20	3208447	3208447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccagtcaaggcctgtgctCagcgtccatgacatccaagt	9	9	10	13	1	2	1	2	1	0	0	4	1	4	1	4	1	3	1	4	1	2	0			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr20:3208447C>T	ENST00000380059.3	-	20	2844	c.2743G>A	c.(2743-2745)Gag>Aag	p.E915K	SLC4A11_ENST00000380056.3_Missense_Mutation_p.E888K|SLC4A11_ENST00000539553.1_Missense_Mutation_p.E872K|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	888					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGCCTGTGCTCAGCGTCCATG	0.612													11	38					0	0	0	0	T	3208447	C	T	3208447	3	4	264	1	0	0	0	0	1	0	0	0	14740	835	29	2	17	2	SLC4A11	20	3208447	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08		3208447	59817073	111	47157											
CHD6	84181	broad.mit.edu	37	chr20	40192733	40192733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttgatctccctgggtctCagtttcttcatttacagaac	8	17	6	10	0	4	2	2	1	3	1	6	2	4	2	1	1	2	1	1	1	3	6			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr20:40192733C>T	ENST00000373222.3	-	2	93	c.55G>A	c.(55-57)Gag>Aag	p.E19K	CHD6_ENST00000309279.7_Intron|CHD6_ENST00000373233.3_Intron			Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2330					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ccctgggtctcagtttcttca	0.413													7	33					0	0	0	0	T	40192733	C	T	40192733	3	4	264	1	0	0	0	0	1	0	0	0	3358	841	29	2		2	CHD6	20	40192733	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	36984286	40192733	22832787	112	47158											
MYH9	4627	broad.mit.edu	37	chr22	36688143	36688143	+	Silent	SNP	C	C	A																															agccgcgtcttggtcttctcCagcttgtcgtaggcggccac																										TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr22:36688143C>A	ENST00000216181.5	-	31	4463	c.4233G>T	c.(4231-4233)ctG>ctT	p.L1411L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1411					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGTCTTCTCCAGCTTGTCGT	0.632			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				9	75					6.40141e-05	0.000436541	1	0	A	36688143	C	A	36688143	2	1	264	1	0	0	0	0	0	0	0	1	10112	581	21	4		4	MYH9	22	36688143	Silent	SNP	C	TCGA-CV-6953-01A-11D-1912-08		36688143	14616423	113	47159	356	2									
MYH9	4627	broad.mit.edu	37	chr22	36688144	36688144	+	Missense_Mutation	SNP	A	A	G																															gccgcgtcttggtcttctccAgcttgtcgtaggcggccacc																										TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr22:36688144A>G	ENST00000216181.5	-	31	4462	c.4232T>C	c.(4231-4233)cTg>cCg	p.L1411P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1411					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGTCTTCTCCAGCTTGTCGTA	0.637			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				9	75					0	0	0	0	G	36688144	A	G	36688144	3	3	264	1	0	0	0	0	1	0	0	0	10112	188	7	5	1694	5	MYH9	22	36688144	Missense_Mutation	SNP	A	TCGA-CV-6953-01A-11D-1912-08	1	36688144	14616422	114	47160	356	2									
CACNG2	10369	broad.mit.edu	37	chr22	37098538	37098538	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagccaatagtcggttccCacagctatggtcatcaggct	10	10	10	11	1	2	1	2	0	0	1	4	1	3	1	2	3	2	3	2	3	4	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr22:37098538C>A	ENST00000300105.6	-	1	1065	c.84G>T	c.(82-84)gtG>gtT	p.V28V		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	28					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AGTCGGTTCCCACAGCTATGG	0.453													43	146					1.22102e-19	9.29487e-19	1	0	A	37098538	C	A	37098538	2	1	264	1	0	0	0	0	0	0	0	1	2582	581	21	4		4	CACNG2	22	37098538	Silent	SNP	C	TCGA-CV-6953-01A-11D-1912-08	410394	37098538	14206028	115	47161											
MEI1	150365	broad.mit.edu	37	chr22	42189908	42189908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctggatgcccggagcccaGacattggtagaaactctcca	11	7	10	13	1	1	2	0	0	1	2	2	4	1	4	4	3	3	1	4	3	2	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr22:42189908G>C	ENST00000401548.3	+	27	3461	c.3421G>C	c.(3421-3423)Gac>Cac	p.D1141H	MEI1_ENST00000300398.4_Missense_Mutation_p.D149H|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.D474H	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1141							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCGGAGCCCAGACATTGGTAG	0.502													5	13					0	0	0	0	C	42189908	G	C	42189908	3	2	264	1	0	0	0	0	1	0	0	0	9534	942	33	2	3527	2	MEI1	22	42189908	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	5091370	42189908	9114658	116	47162											
RS1	6247	broad.mit.edu	37	chrX	18662590	18662590	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtagtaaatccagttcAggcgctcatcggtcctgtac	8	12	9	12	2	2	0	2	0	0	0	5	0	4	0	3	2	1	5	3	2	4	5			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:18662590A>C	ENST00000379984.3	-	5	522	c.482T>G	c.(481-483)cTg>cGg	p.L161R	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	161	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AATCCAGTTCAGGCGCTCATC	0.532													6	95					0	0	0	0	C	18662590	A	C	18662590	3	2	264	1	0	0	0	0	1	0	0	0	13778	188	7	5	200	5	RS1	23	18662590	Missense_Mutation	SNP	A	TCGA-CV-6953-01A-11D-1912-08		18662590	136607970	117	47163											
FAM47A	158724	broad.mit.edu	37	chrX	34149003	34149003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggaggctgcaggcagggttCcccacaaggggatttatgag	9	7	17	8	0	0	1	0	1	0	0	1	3	1	3	2	6	1	4	2	6	2	3			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:34149003C>T	ENST00000346193.3	-	1	1444	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	465										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCAGGGTTCCCCACAAGGG	0.602													13	45					0	0	0	0	T	34149003	C	T	34149003	3	4	264	1	0	0	0	0	1	0	0	0	5616	864	30	2	986	2	FAM47A	23	34149003	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	15486413	34149003	121121557	118	47164											
MED12	9968	broad.mit.edu	37	chrX	70342193	70342193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtaacagtgccttcactcaGcaggtatgtctgaccactag	10	10	10	11	0	3	1	2	1	1	0	3	1	3	1	2	2	3	3	2	2	3	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:70342193G>A	ENST00000333646.6	+	8	1444	c.1245G>A	c.(1243-1245)caG>caA	p.Q415Q	MED12_ENST00000374080.3_Silent_p.Q415Q|MED12_ENST00000374102.1_Silent_p.Q415Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	415					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCTTCACTCAGCAGGTATGTC	0.483			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						17	39					0	0	0	0	A	70342193	G	A	70342193	2	1	264	1	0	0	0	0	0	0	0	1	9497	962	34	4		4	MED12	23	70342193	Silent	SNP	G	TCGA-CV-6953-01A-11D-1912-08	36193190	70342193	84928367	119	47165											
NRK	203447	broad.mit.edu	37	chrX	105183934	105183934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agattttgaataatgatccaGaaagtaaaagaaggcaagaa	21	8	9	3	0	0	6	0	2	0	4	1	6	1	6	1	1	0	2	1	1	8	4			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:105183934G>A	ENST00000428173.2	+	23	4174	c.3871G>A	c.(3871-3873)Gaa>Aaa	p.E1291K	NRK_ENST00000243300.9_Missense_Mutation_p.E1290K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1290	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TAATGATCCAGAAAGTAAAAG	0.378										HNSCC(51;0.14)			4	14					0	0	0	0	A	105183934	G	A	105183934	3	1	264	1	0	0	0	0	1	0	0	0	10726	943	33	2	3958	2	NRK	23	105183934	Missense_Mutation	SNP	G	TCGA-CV-6953-01A-11D-1912-08	34841741	105183934	50086626	120	47166											
IRS4	8471	broad.mit.edu	37	chrX	107979141	107979141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatagggtgatcacgcgcCgcggtggaatgagcgggggg	7	6	21	7	5	1	2	1	2	0	0	1	3	1	3	1	7	1	1	1	7	3	2			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:107979141C>T	ENST00000372129.2	-	1	510	c.434G>A	c.(433-435)cGg>cAg	p.R145Q		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	145	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GATCACGCGCCGCGGTGGAAT	0.632													7	35					0	0	0	0	T	107979141	C	T	107979141	3	4	264	1	0	0	0	0	1	0	0	0	7895	652	23	1	3343	1	IRS4	23	107979141	Missense_Mutation	SNP	C	TCGA-CV-6953-01A-11D-1912-08	2795207	107979141	47291419	121	47167											
TMEM187	8269	broad.mit.edu	37	chrX	153247752	153247752	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggcggcgcgatggggcTgggtccccgctacctgaagg	5	5	19	12	4	0	1	0	1	0	0	1	2	1	1	3	7	1	2	3	7	2	1			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:153247752T>C	ENST00000369982.4	+	2	986	c.239T>C	c.(238-240)cTg>cCg	p.L80P		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	80						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGATGGGGCTGGGTCCCCGC	0.692													7	24					0	0	0	0	C	153247752	T	C	153247752	3	2	264	1	0	0	0	0	1	0	0	0	16203	1580	55	5	241	5	TMEM187	23	153247752	Missense_Mutation	SNP	T	TCGA-CV-6953-01A-11D-1912-08	45268611	153247752	2022808	122	47168											
TPRG1L	127262	broad.mit.edu	37	chr1	3544105	3544105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcagtgggacaagcaaaGtcgtccttccttcataaaca	14	10	7	10	1	2	0	2	0	0	0	5	1	4	1	2	1	2	1	2	1	5	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr1:3544105G>T	ENST00000378344.2	+	4	583	c.512G>T	c.(511-513)aGt>aTt	p.S171I	TPRG1L_ENST00000344579.5_Missense_Mutation_p.S112I	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	171						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GACAAGCAAAGTCGTCCTTCC	0.502													11	221					1.33987e-11	1.73741e-11	1	0	T	3544105	G	T	3544105	3	4	265	1	0	0	0	0	1	0	0	0	16514	1029	36	4	526	4	TPRG1L	1	3544105	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08		3544105	245706516	1	47169											
DDI2	84301	broad.mit.edu	37	chr1	15959965	15959965	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagtcctggtggagcagcaGcaggaccgagcccggagaga	11	3	17	10	2	0	2	0	0	0	2	1	7	1	5	3	4	4	3	3	4	0	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:15959965G>A	ENST00000480945.1	+	4	708	c.537G>A	c.(535-537)caG>caA	p.Q179Q		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	179					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGGAGCAGCAGCAGGACCGAG	0.398													5	322					0	0	0	0	A	15959965	G	A	15959965	2	1	265	1	0	0	0	0	0	0	0	1	4361	962	34	4		4	DDI2	1	15959965	Silent	SNP	G	TCGA-CV-6954-01A-11D-1912-08	12415860	15959965	233290656	2	47170											
GRHL3	57822	broad.mit.edu	37	chr1	24669194	24669194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgcagggagctgagaGgaagatgcgcgatgacgagc	10	5	16	10	3	0	3	0	2	0	2	1	8	1	5	2	2	4	2	2	2	1	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:24669194G>A	ENST00000361548.4	+	10	1447	c.1217G>A	c.(1216-1218)aGg>aAg	p.R406K	GRHL3_ENST00000356046.2_Missense_Mutation_p.R360K|GRHL3_ENST00000350501.5_Missense_Mutation_p.R406K|GRHL3_ENST00000342072.4_Missense_Mutation_p.R313K|GRHL3_ENST00000236255.4_Missense_Mutation_p.R411K	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	406					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GGAGCTGAGAGGAAGATGCGC	0.597													5	126					0	0	0	0	A	24669194	G	A	24669194	3	1	265	1	0	0	0	0	1	0	0	0	6815	1000	35	4	1291	4	GRHL3	1	24669194	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	8709229	24669194	224581427	3	47171											
SYNC	81493	broad.mit.edu	37	chr1	33149862	33149862	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagcagcagaaactgacttaTaagtagagagctcttcagca	15	9	9	8	0	2	3	1	1	1	2	2	4	2	3	0	0	5	5	0	0	5	5			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:33149862T>C	ENST00000373484.3	-	3	1454	c.1355A>G	c.(1354-1356)tAt>tGt	p.Y452C	RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000409190.3_Missense_Mutation_p.Y452C	NM_001161708.1	NP_001155180.1	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	452	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AACTGACTTATAAGTAGAGAG	0.433													139	187					0	0	0	0	C	33149862	T	C	33149862	3	2	265	1	0	0	0	0	1	0	0	0	15534	1406	49	5	167	5	SYNC	1	33149862	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	8480668	33149862	216100759	4	47172											
MACF1	23499	broad.mit.edu	37	chr1	39844998	39844998	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaatggaggaggttcacaAggaggcaaactctgtgctgc	12	7	14	8	0	2	1	1	0	1	1	2	4	2	4	0	5	3	3	0	5	3	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:39844998A>T	ENST00000564288.1	+	54	14177	c.13400A>T	c.(13399-13401)aAg>aTg	p.K4467M	MACF1_ENST00000289893.4_Missense_Mutation_p.K2907M|MACF1_ENST00000372915.3_Missense_Mutation_p.K4472M|MACF1_ENST00000317713.7_Missense_Mutation_p.K2405M|MACF1_ENST00000545844.1_Missense_Mutation_p.K2405M|MACF1_ENST00000539005.1_Missense_Mutation_p.K2384M|MACF1_ENST00000361689.2_Missense_Mutation_p.K2405M|MACF1_ENST00000567887.1_Missense_Mutation_p.K4504M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4472					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGGTTCACAAGGAGGCAAAC	0.468													7	286					0	0	0	0	T	39844998	A	T	39844998	3	4	265	1	0	0	0	0	1	0	0	0	9209	72	3	5	13559	5	MACF1	1	39844998	Missense_Mutation	SNP	A	TCGA-CV-6954-01A-11D-1912-08	6695136	39844998	209405623	5	47173											
HPDL	84842	broad.mit.edu	37	chr1	45792887	45792887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgggcagcccctagccCggaacctgcagcgcctcttc	5	5	11	20	4	1	0	0	0	1	0	2	1	1	1	7	2	5	2	7	2	2	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:45792887C>T	ENST00000334815.3	+	1	343	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	23					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCCCCTAGCCCGGAACCTGCA	0.697													14	19					0	0	0	0	T	45792887	C	T	45792887	3	4	265	1	0	0	0	0	1	0	0	0	7383	643	23	1	69	1	HPDL	1	45792887	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	5947889	45792887	203457734	6	47174											
ROR1	4919	broad.mit.edu	37	chr1	64643163	64643163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgctttatggaagaattggGtgagtgtgcctttggaaaaa	12	12	13	4	1	0	2	0	1	0	1	0	4	0	4	1	3	1	1	1	3	5	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:64643163G>A	ENST00000371079.1	+	9	1814	c.1439G>A	c.(1438-1440)gGt>gAt	p.G480D	ROR1_ENST00000545203.1_5'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	480	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GAAGAATTGGGTGAGTGTGCC	0.423													21	270					0	0	0	0	A	64643163	G	A	64643163	3	1	265	1	0	0	0	0	1	0	0	0	13611	1261	44	4	1481	4	ROR1	1	64643163	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	18850276	64643163	184607458	7	47175											
LEPR	3953	broad.mit.edu	37	chr1	66074565	66074565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gattcgctatggtttaagtgGaaaagaagtacaatggaagg	15	10	13	3	1	0	1	0	0	0	1	1	4	0	3	0	4	1	3	0	4	8	5			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:66074565G>T	ENST00000349533.6	+	12	1918	c.1733G>T	c.(1732-1734)gGa>gTa	p.G578V	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.G578V|LEPR_ENST00000371059.3_Missense_Mutation_p.G578V|LEPR_ENST00000371060.3_Missense_Mutation_p.G578V|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.G578V	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	578	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GGTTTAAGTGGAAAAGAAGTA	0.303													16	28					1.33834e-09	1.7014e-09	1	0	T	66074565	G	T	66074565	3	4	265	1	0	0	0	0	1	0	0	0	8781	1174	41	2	1771	2	LEPR	1	66074565	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	1431402	66074565	183176056	8	47176											
CLCA2	9635	broad.mit.edu	37	chr1	86904619	86904619	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgatgcagattgttgaaAttcataccttcgtgggcatt	10	16	9	6	1	1	3	1	2	0	1	2	3	1	3	1	1	2	3	1	1	2	7			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:86904619A>T	ENST00000370565.4	+	7	1195	c.1033A>T	c.(1033-1035)Att>Ttt	p.I345F		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	345	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GATTGTTGAAATTCATACCTT	0.418													6	73					0	0	0	0	T	86904619	A	T	86904619	3	4	265	1	0	0	0	0	1	0	0	0	3488	101	4	5	1059	5	CLCA2	1	86904619	Missense_Mutation	SNP	A	TCGA-CV-6954-01A-11D-1912-08	20830054	86904619	162346002	9	47177											
HS2ST1	9653	broad.mit.edu	37	chr1	87558326	87558326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgattatagaccagggttaCggagacgaaaacaaggagac	17	6	12	6	2	0	4	0	1	0	3	0	7	0	4	1	3	2	1	1	3	6	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:87558326C>T	ENST00000370550.5	+	4	925	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.R162W|HS2ST1_ENST00000370551.4_Missense_Mutation_p.R188W|HS2ST1_ENST00000356813.4_Missense_Mutation_p.R162W	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	188						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		ACCAGGGTTACGGAGACGAAA	0.303													5	29					0	0	0	0	T	87558326	C	T	87558326	3	4	265	1	0	0	0	0	1	0	0	0	7412	527	19	1	576	1	HS2ST1	1	87558326	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	653707	87558326	161692295	10	47178											
VAV3	10451	broad.mit.edu	37	chr1	108307728	108307728	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtttgacatcttcttttgtCttagaaatgtagtctaaact	11	18	6	6	0	4	2	0	1	4	1	4	2	4	2	0	0	1	2	0	0	5	7			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:108307728C>T	ENST00000370056.4	-	9	1165	c.891G>A	c.(889-891)aaG>aaA	p.K297K	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.K232K|VAV3_ENST00000527011.1_Silent_p.K297K	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	297	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTTCTTTTGTCTTAGAAATGT	0.338													6	41					0	0	0	0	T	108307728	C	T	108307728	2	4	265	1	0	0	0	0	0	0	0	1	17229	912	32	2		2	VAV3	1	108307728	Silent	SNP	C	TCGA-CV-6954-01A-11D-1912-08	20749402	108307728	140942893	11	47179											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859412	149859412	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaccagcgcgggacgAgcgcgacttggccttagcgc	7	5	16	13	6	0	1	0	0	0	1	0	5	0	2	2	3	3	0	2	3	1	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:149859412A>T	ENST00000331128.3	-	1	54	c.55T>A	c.(55-57)Tcg>Acg	p.S19T		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	19					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCGGGACGAGCGCGACTTG	0.622													5	90					0	0	0	0	T	149859412	A	T	149859412	3	4	265	1	0	0	0	0	1	0	0	0	7227	304	11	5	341	5	HIST2H2AB	1	149859412	Missense_Mutation	SNP	A	TCGA-CV-6954-01A-11D-1912-08	41551684	149859412	99391209	12	47180											
FCRL4	83417	broad.mit.edu	37	chr1	157557209	157557209	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccagtctgacaggatgAcctcgccatctctgaagaag	10	9	10	12	1	2	4	0	3	2	1	5	5	3	5	3	1	1	1	3	1	2	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:157557209A>G	ENST00000271532.1	-	5	839	c.704T>C	c.(703-705)gTc>gCc	p.V235A	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	235	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGACAGGATGACCTCGCCATC	0.532													24	289					0	0	0	0	G	157557209	A	G	157557209	3	3	265	1	0	0	0	0	1	0	0	0	5842	275	10	5	875	5	FCRL4	1	157557209	Missense_Mutation	SNP	A	TCGA-CV-6954-01A-11D-1912-08	7697797	157557209	91693412	13	47181											
TBX19	9095	broad.mit.edu	37	chr1	168274253	168274253	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctattttagtgggaggCtggatcttttccaatccaga	8	16	10	7	0	2	1	0	0	2	1	4	3	4	3	2	3	0	1	2	3	3	6			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:168274253C>A	ENST00000367821.3	+	6	786	c.735C>A	c.(733-735)ggC>ggA	p.G245G		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	245					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TAGTGGGAGGCTGGATCTTTT	0.493													16	73					2.94398e-08	3.70322e-08	1	0	A	168274253	C	A	168274253	2	1	265	1	0	0	0	0	0	0	0	1	15748	784	28	4		4	TBX19	1	168274253	Silent	SNP	C	TCGA-CV-6954-01A-11D-1912-08	10717044	168274253	80976368	14	47182											
KCNT2	343450	broad.mit.edu	37	chr1	196227581	196227581	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccttgttctttggagTctttggtgtcttcccactct	2	18	10	11	0	4	0	0	0	4	0	5	1	5	1	2	3	1	1	2	3	0	5			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:196227581T>A	ENST00000367433.5	-	25	2983	c.2882A>T	c.(2881-2883)gAc>gTc	p.D961V	KCNT2_ENST00000294725.8_Missense_Mutation_p.D985V|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.D919V			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	985						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTCTTTGGAGTCTTTGGTGTC	0.433													10	78					0	0	0	0	A	196227581	T	A	196227581	3	1	265	1	0	0	0	0	1	0	0	0	8145	1667	58	5	465	5	KCNT2	1	196227581	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	27953328	196227581	53023040	15	47183											
CFHR2	3080	broad.mit.edu	37	chr1	196927141	196927141	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgccagaacttgtatcaacTtgagggtaacaatcaaataa	16	10	8	7	0	2	2	2	1	0	1	2	2	2	2	1	1	4	2	1	1	7	5			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:196927141T>C	ENST00000367415.4	+	4	665	c.551T>C	c.(550-552)cTt>cCt	p.L184P	CFHR2_ENST00000367421.3_Missense_Mutation_p.L184P|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	184	Sushi 3.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TTGTATCAACTTGAGGGTAAC	0.398													3	74					0	0	0	0	C	196927141	T	C	196927141	3	2	265	1	0	0	0	0	1	0	0	0	3314	1609	56	5	565	5	CFHR2	1	196927141	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	699560	196927141	52323480	16	47184											
RPS6KC1	26750	broad.mit.edu	37	chr1	213277842	213277842	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagagaagacaatgtgctgaAgacctgctacagttctctgc	12	9	11	9	0	1	4	0	1	1	3	2	6	1	4	1	0	4	3	1	0	4	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:213277842A>T	ENST00000366960.3	+	4	459	c.309A>T	c.(307-309)gaA>gaT	p.E103D	RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.E91D|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	103	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATGTGCTGAAGACCTGCTAC	0.353													4	59					0	0	0	0	T	213277842	A	T	213277842	3	4	265	1	0	0	0	0	1	0	0	0	13743	69	3	5	323	5	RPS6KC1	1	213277842	Missense_Mutation	SNP	A	TCGA-CV-6954-01A-11D-1912-08	16350701	213277842	35972779	17	47185											
MIA3	375056	broad.mit.edu	37	chr1	222802470	222802470	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagattctcctctccagaTgagattgatttgcccagaga	10	12	8	11	0	2	5	0	2	2	4	4	7	2	5	4	0	1	0	4	0	1	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:222802470T>A	ENST00000344922.5	+	4	1933	c.1908T>A	c.(1906-1908)gaT>gaA	p.D636E	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.D636E	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	636					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCTCTCCAGATGAGATTGATT	0.468													35	158					0	0	0	0	A	222802470	T	A	222802470	3	1	265	1	0	0	0	0	1	0	0	0	9634	1461	51	5	1922	5	MIA3	1	222802470	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	9524628	222802470	26448151	18	47186											
NUP133	55746	broad.mit.edu	37	chr1	229637829	229637829	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatccaccttcatctatgtTaatggtcagctggtcatcga	9	13	7	12	1	4	0	3	0	1	0	6	1	5	0	3	2	1	2	3	2	2	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:229637829T>C	ENST00000261396.3	-	3	413	c.322A>G	c.(322-324)Aac>Gac	p.N108D	NUP133_ENST00000537506.1_Missense_Mutation_p.N92D|NUP133_ENST00000366678.3_Missense_Mutation_p.N108D|NUP133_ENST00000366679.1_Missense_Mutation_p.N108D	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	108					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TCATCTATGTTAATGGTCAGC	0.363													8	113					0	0	0	0	C	229637829	T	C	229637829	3	2	265	1	0	0	0	0	1	0	0	0	10825	1754	61	5	3244	5	NUP133	1	229637829	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	6835359	229637829	19612792	19	47187											
LYST	1130	broad.mit.edu	37	chr1	235827826	235827826	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatactccctcaggctggtTggagaaagccacggaacaga	13	6	12	10	1	1	3	1	0	0	3	2	5	2	4	2	4	3	2	2	4	3	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:235827826T>C	ENST00000389794.3	-	51	11308	c.11134A>G	c.(11134-11136)Aac>Gac	p.N3712D	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.N3712D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3712					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCAGGCTGGTTGGAGAAAGCC	0.468													4	58					0	0	0	0	C	235827826	T	C	235827826	3	2	265	1	0	0	0	0	1	0	0	0	9193	1812	63	5	283	5	LYST	1	235827826	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	6189997	235827826	13422795	20	47188											
OR2G3	81469	broad.mit.edu	37	chr1	247769355	247769355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagtggtttggctagttcCctaatccatgcaacttttac	8	15	7	11	0	1	0	1	0	0	0	3	0	3	0	2	2	3	4	2	2	4	6			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:247769355C>T	ENST00000320002.2	+	1	500	c.468C>T	c.(466-468)tcC>tcT	p.S156S	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTAGTTCCCTAATCCATG	0.483													4	139					0	0	0	0	T	247769355	C	T	247769355	2	4	265	1	0	0	0	0	0	0	0	1	11070	610	22	4		4	OR2G3	1	247769355	Silent	SNP	C	TCGA-CV-6954-01A-11D-1912-08	11941529	247769355	1481266	21	47189											
ITSN2	50618	broad.mit.edu	37	chr2	24498605	24498606	+	Frame_Shift_Ins	INS	-	-	T																															cagcctcatcttctagtttcINStttttctgcattagttctaa																										TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:24498605_24498606insT	ENST00000355123.4	-	18	2500_2501	c.2057_2058insA	c.(2056-2058)aaafs	p.K686fs	ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.K659fs|ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.K686fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	686					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.K685N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCTAGTTTCTTTTTCTGCAT	0.327													12	67	---	---	---	---					T	24498606	-	T	24498605	7	5	265	1	0	1	1	0	0	0	0	0	7980	912	32	0	3178	0	ITSN2	2	24498605	Frame_Shift_Ins	INS	-	TCGA-CV-6954-01A-11D-1912-08		24498605	218700768	22	47190											
XDH	7498	broad.mit.edu	37	chr2	31600014	31600014	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtacctctgtggttccTggcttgaataaaactctcat	8	15	7	11	0	2	1	1	1	2	0	5	1	4	1	3	2	2	3	3	2	4	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:31600014T>A	ENST00000379416.3	-	14	1380	c.1332A>T	c.(1330-1332)ccA>ccT	p.P444P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	444					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTGTGGTTCCTGGCTTGAATA	0.502													6	94					0	0	0	0	A	31600014	T	A	31600014	2	1	265	1	0	0	0	0	0	0	0	1	17522	1567	55	5		5	XDH	2	31600014	Silent	SNP	T	TCGA-CV-6954-01A-11D-1912-08	7101409	31600014	211599359	23	47191											
SRD5A2	6716	broad.mit.edu	37	chr2	31805847	31805847	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcaggcgggtagccgccgGcttcaggctctccgtgtgct	3	9	16	13	4	2	0	1	0	1	0	3	0	2	0	3	5	2	5	3	5	1	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:31805847G>A	ENST00000405650.1	-	0	289							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GTAGCCGCCGGCTTCAGGCTC	0.721													8	27					0	0	0	0	A	31805847	G	A	31805847	1	1	265	0	1	0	0	0	0	0	0	0	15229	1194	42	4		4	SRD5A2	2	31805847	RNA	SNP	G	TCGA-CV-6954-01A-11D-1912-08	205833	31805847	211393526	24	47192											
CCDC88A	55704	broad.mit.edu	37	chr2	55539617	55539617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatccttgctttccatattCtgctccaaaagtgttctgtt	8	17	6	10	0	2	1	0	0	2	1	5	1	5	1	3	0	2	4	3	0	3	6			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:55539617C>G	ENST00000436346.1	-	23	4873	c.4032G>C	c.(4030-4032)caG>caC	p.Q1344H	AC012358.8_ENST00000366287.4_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q1343H|CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q1343H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q1344H	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1344					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTCCATATTCTGCTCCAAAA	0.328													13	54					0	0	0	0	G	55539617	C	G	55539617	3	3	265	1	0	0	0	0	1	0	0	0	2890	912	32	2	1623	2	CCDC88A	2	55539617	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	23733770	55539617	187659756	25	47193											
ANKRD36	375248	broad.mit.edu	37	chr2	97845475	97845475	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcccttttgcttttcagTgtcttctcagaaacaaccag	9	15	6	11	0	3	1	2	0	2	1	5	1	4	1	2	0	3	2	2	0	3	6			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:97845475T>G	ENST00000420699.2	+	23	1878	c.1633_splice	c.e23-1	p.V545_splice	ANKRD36_ENST00000461153.2_Splice_Site_p.V545_splice	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	545										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TGCTTTTCAGTGTCTTCTCAG	0.299													4	36					0	0	0	0	G	97845475	T	G	97845475	5	3	265	1	0	0	0	0	0	0	1	0	664	1710	59	5	1724	5	ANKRD36	2	97845475	Splice_Site	SNP	T	TCGA-CV-6954-01A-11D-1912-08	42305858	97845475	145353898	26	47194											
SLC5A7	60482	broad.mit.edu	37	chr2	108625031	108625031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtatatttctttctttGgtcttggtgcagtttctgct	3	22	9	7	0	4	0	0	0	4	0	4	0	4	0	0	2	2	4	0	2	2	7			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:108625031G>T	ENST00000264047.2	+	8	1282	c.1006G>T	c.(1006-1008)Ggt>Tgt	p.G336C	SLC5A7_ENST00000409059.1_Missense_Mutation_p.G336C|SLC5A7_ENST00000540517.1_Missense_Mutation_p.G231C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	336					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTCTTTCTTTGGTCTTGGTGC	0.443													9	39					0.00448238	0.00500602	1	0	T	108625031	G	T	108625031	3	4	265	1	0	0	0	0	1	0	0	0	14758	1348	47	4	1032	4	SLC5A7	2	108625031	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	10779556	108625031	134574342	27	47195											
RANBP2	5903	broad.mit.edu	37	chr2	109383950	109383950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttgttcctttacctgatCtagttgaagtatccagtggt	7	17	9	8	0	1	2	0	2	1	0	3	2	3	2	3	1	1	4	3	1	4	7			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:109383950C>G	ENST00000283195.6	+	20	7081	c.6955C>G	c.(6955-6957)Cta>Gta	p.L2319V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2319	RanBD1 3.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTACCTGATCTAGTTGAAGT	0.393													102	164					0	0	0	0	G	109383950	C	G	109383950	3	3	265	1	0	0	0	0	1	0	0	0	13110	912	32	2	7033	2	RANBP2	2	109383950	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	758919	109383950	133815423	28	47196											
HOXD12	3238	broad.mit.edu	37	chr2	176964535	176964535	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctttgttggagatgtgTgagcgcagtctctacagagc	8	11	13	9	1	1	3	0	1	1	2	2	4	1	3	1	1	4	2	1	1	1	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:176964535T>C	ENST00000406506.2	+	1	78	c.6T>C	c.(4-6)tgT>tgC	p.C2C	HOXD12_ENST00000404162.2_Silent_p.C2C			P35452	HXD12_HUMAN	homeobox D12	2						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TGGAGATGTGTGAGCGCAGTC	0.542													76	85					0	0	0	0	C	176964535	T	C	176964535	2	2	265	1	0	0	0	0	0	0	0	1	7371	1702	59	5		5	HOXD12	2	176964535	Silent	SNP	T	TCGA-CV-6954-01A-11D-1912-08	67580585	176964535	66234838	29	47197											
TTN	7273	broad.mit.edu	37	chr2	179602873	179602873	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggaagctttgcatgtataCtcgccgcagtcaaccacctg	9	11	9	12	2	1	0	1	0	0	0	2	1	1	1	3	1	4	4	3	1	4	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:179602873C>G	ENST00000589042.1	-	49	14531	c.14307G>C	c.(14305-14307)gaG>gaC	p.E4769D	TTN_ENST00000342992.6_Missense_Mutation_p.E3525D|TTN_ENST00000460472.2_Missense_Mutation_p.E4406D|TTN_ENST00000342175.6_Missense_Mutation_p.E4598D|TTN_ENST00000359218.5_Missense_Mutation_p.E4531D|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4452D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4452	Ig-like 28.						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)			TGCATGTATACTCGCCGCAGT	0.453													11	65					0	0	0	0	G	179602873	C	G	179602873	3	3	265	1	0	0	0	0	1	0	0	0	16831	564	20	4	90478	4	TTN	2	179602873	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	2638338	179602873	63596500	30	47198											
DIS3L2	129563	broad.mit.edu	37	chr2	233128057	233128057	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttccccagagcatagcagCgaggaggtacaccaggccgt	11	6	12	12	2	0	1	0	0	0	1	1	3	1	2	4	3	4	3	4	3	2	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:233128057C>T	ENST00000325385.7	+	13	1842	c.1566C>T	c.(1564-1566)agC>agT	p.S522S	DIS3L2_ENST00000409307.1_Silent_p.S522S|DIS3L2_ENST00000273009.6_Silent_p.S522S	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	522							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AGCATAGCAGCGAGGAGGTAC	0.542													14	59					0	0	0	0	T	233128057	C	T	233128057	2	4	265	1	0	0	0	0	0	0	0	1	4574	767	27	1		1	DIS3L2	2	233128057	Silent	SNP	C	TCGA-CV-6954-01A-11D-1912-08	53525184	233128057	10071316	31	47199											
USP40	55230	broad.mit.edu	37	chr2	234465540	234465540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacattctttacaaacaatCtggttaacaatggttccatg	13	15	5	8	0	2	0	0	0	2	0	3	0	3	0	1	2	4	2	1	2	6	6			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:234465540C>G	ENST00000251722.6	-	5	624	c.507G>C	c.(505-507)caG>caC	p.Q169H	USP40_ENST00000450966.1_Missense_Mutation_p.Q181H|USP40_ENST00000427112.2_Missense_Mutation_p.Q169H			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	169					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TACAAACAATCTGGTTAACAA	0.368													10	39					0	0	0	0	G	234465540	C	G	234465540	3	3	265	1	0	0	0	0	1	0	0	0	17168	912	32	2	3312	2	USP40	2	234465540	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	1337483	234465540	8733833	32	47200											
AGAP1	116987	broad.mit.edu	37	chr2	236877176	236877176	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagccccaagctcgacccGcccccctcccctcacgccaa	8	3	5	25	3	1	0	1	0	0	0	3	1	2	0	10	0	2	1	10	0	2	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:236877176G>C	ENST00000409538.1	+	12	2686	c.2190G>C	c.(2188-2190)ccG>ccC	p.P730P	AGAP1_ENST00000336665.5_Silent_p.P465P|AGAP1_ENST00000428334.2_Silent_p.P357P|AGAP1_ENST00000304032.7_Silent_p.P518P			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	518					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGCTCGACCCGCCCCCCTCCC	0.577													4	54					0	0	0	0	C	236877176	G	C	236877176	2	2	265	1	0	0	0	0	0	0	0	1	366	1074	38	3		3	AGAP1	2	236877176	Silent	SNP	G	TCGA-CV-6954-01A-11D-1912-08	2411636	236877176	6322197	33	47201											
TGFBR2	7048	broad.mit.edu	37	chr3	30732963	30732963	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctgggaccacgacccaGaggcccgtctcacagcccag	9	4	12	16	2	1	1	1	0	1	1	2	3	1	2	4	2	2	1	4	2	0	0	rs121918714		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:30732963G>T	ENST00000295754.5	+	7	1958	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.E551*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	526	Protein kinase.		E -> Q (in esophageal cancer).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCACGACCCAGAGGCCCGTCT	0.602													32	26					2.08457e-15	2.72247e-15	1	0	T	30732963	G	T	30732963	4	4	265	1	0	0	0	0	0	1	0	0	15916	943	33	2	1681	2	TGFBR2	3	30732963	Nonsense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08		30732963	167289467	34	47202											
SCN11A	11280	broad.mit.edu	37	chr3	38888436	38888436	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attggcttccatgaacttctCttccatcattgctttcatac	8	17	4	12	0	3	1	2	1	1	0	6	1	5	1	2	1	3	2	2	1	2	7			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:38888436C>G	ENST00000302328.3	-	26	5323	c.5125G>C	c.(5125-5127)Gag>Cag	p.E1709Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1671Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.E1709Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1709					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGAACTTCTCTTCCATCATT	0.458													30	95					0	0	0	0	G	38888436	C	G	38888436	3	3	265	1	0	0	0	0	1	0	0	0	14000	922	32	2	254	2	SCN11A	3	38888436	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	8155473	38888436	159133994	35	47203											
CCR2	729230	broad.mit.edu	37	chr3	46399419	46399419	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttcttcatcatcctccTgacaatcgatagatacctgg	11	13	5	12	1	4	2	2	1	2	1	7	3	6	2	3	1	1	0	3	1	4	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:46399419T>A	ENST00000292301.4	+	2	886	c.401T>A	c.(400-402)cTg>cAg	p.L134Q	CCR2_ENST00000445132.2_Missense_Mutation_p.L134Q|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000400888.2_Missense_Mutation_p.L134Q	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	134					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ATCATCCTCCTGACAATCGAT	0.463													22	419					0	0	0	0	A	46399419	T	A	46399419	3	1	265	1	0	0	0	0	1	0	0	0	2970	1580	55	5	403	5	CCR2	3	46399419	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	7510983	46399419	151623011	36	47204											
ZBTB11	27107	broad.mit.edu	37	chr3	101375081	101375081	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatgcttatagataaaagtCtttccacagacctaagatag	15	11	6	9	0	1	3	0	0	1	3	2	3	2	3	3	0	1	1	3	0	6	6	rs144559723		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:101375081C>G	ENST00000312938.4	-	7	2638	c.2058G>C	c.(2056-2058)aaG>aaC	p.K686N		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGATAAAAGTCTTTCCACAGA	0.333													7	32					0	0	0	0	G	101375081	C	G	101375081	3	3	265	1	0	0	0	0	1	0	0	0	17619	912	32	2	1123	2	ZBTB11	3	101375081	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	54975662	101375081	96647349	37	47205											
ZPLD1	131368	broad.mit.edu	37	chr3	102157324	102157324	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatagatatctcttttccagGttttgcaatggaacaaatat	13	15	7	6	0	1	1	0	0	1	1	3	3	2	2	1	2	2	2	1	2	6	7			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:102157324G>T	ENST00000306176.1	+	2	141	c.40_splice	c.e2-1	p.G14_splice	ZPLD1_ENST00000466937.1_5'UTR|ZPLD1_ENST00000491959.1_5'UTR	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	0						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TCTTTTCCAGGTTTTGCAATG	0.458													16	62					1.5739e-10	2.02237e-10	1	0	T	102157324	G	T	102157324	5	4	265	1	0	0	0	0	0	0	1	0	18314	1275	44	4	47	4	ZPLD1	3	102157324	Splice_Site	SNP	G	TCGA-CV-6954-01A-11D-1912-08	782243	102157324	95865106	38	47206											
TRH	7200	broad.mit.edu	37	chr3	129695649	129695649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaagaggaagaaggggggGctgtgggaccccacaaacgg	13	2	19	7	1	0	2	0	0	0	2	0	5	0	5	2	7	1	1	2	7	4	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:129695649G>T	ENST00000302649.3	+	3	846	c.319G>T	c.(319-321)Gct>Tct	p.A107S	TRH_ENST00000507066.1_Missense_Mutation_p.A103S	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	107					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						agaagggggggCTGTGGGACC	0.577													5	80					0.000602214	0.000685377	1	0	T	129695649	G	T	129695649	3	4	265	1	0	0	0	0	1	0	0	0	16573	1203	42	4	325	4	TRH	3	129695649	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	27538325	129695649	68326781	39	47207											
STAG1	10274	broad.mit.edu	37	chr3	136219098	136219098	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatatacccttaaaaataGagttcatcatattttcgatt	16	15	3	7	1	2	1	2	0	0	1	3	2	2	1	1	0	1	1	1	0	8	9			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:136219098G>C	ENST00000383202.2	-	9	1125	c.869C>G	c.(868-870)tCt>tGt	p.S290C	STAG1_ENST00000434713.2_Missense_Mutation_p.S64C|STAG1_ENST00000236698.5_Missense_Mutation_p.S290C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	290					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CTTAAAAATAGAGTTCATCAT	0.279													4	8					0	0	0	0	C	136219098	G	C	136219098	3	2	265	1	0	0	0	0	1	0	0	0	15332	942	33	2	3011	2	STAG1	3	136219098	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	6523449	136219098	61803332	40	47208											
CLDN18	51208	broad.mit.edu	37	chr3	137749921	137749921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaaaacaagaagatatacGatggaggtgcccgcacagag	17	4	11	9	2	0	3	0	0	0	3	0	5	0	4	2	2	3	1	2	2	6	2	rs141484279		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:137749921G>A	ENST00000183605.5	+	5	950	c.724G>A	c.(724-726)Gat>Aat	p.D242N	CLDN18_ENST00000343735.4_Missense_Mutation_p.D242N	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	242					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GAAGATATACGATGGAGGTGC	0.517													27	149					0	0	0	0	A	137749921	G	A	137749921	3	1	265	1	0	0	0	0	1	0	0	0	3509	1058	37	1	966	1	CLDN18	3	137749921	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	1530823	137749921	60272509	41	47209											
DBR1	51163	broad.mit.edu	37	chr3	137893473	137893474	+	Frame_Shift_Ins	INS	-	-	GT																															gcatgtgacgatacttgggcINSggcacggccatgcagcgtag																										TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:137893473_137893474insGT	ENST00000260803.4	-	1	317_318	c.164_165insAC	c.(163-165)cccfs	p.P55fs	DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	55						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GATACTTGGGCGGCACGGCCAT	0.693													9	18	---	---	---	---					GT	137893474	-	GT	137893473	7	5	265	1	0	1	1	0	0	0	0	0	4290	755	27	0	1501	0	DBR1	3	137893473	Frame_Shift_Ins	INS	-	TCGA-CV-6954-01A-11D-1912-08	143552	137893473	60128957	42	47210											
RASA2	5922	broad.mit.edu	37	chr3	141328366	141328366	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taagctgcagaagatggaagGtaaatacacaatctattttt	16	12	8	5	0	1	2	0	0	1	2	1	3	1	3	0	2	3	3	0	2	8	6			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:141328366G>T	ENST00000286364.3	+	22	2364		c.e22+1		RASA2_ENST00000452898.1_Splice_Site|RASA2_ENST00000509118.1_Splice_Site			Q15283	RASA2_HUMAN	RAS p21 protein activator 2						intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AAGATGGAAGGTAAATACACA	0.303													5	54					3.59834e-05	4.25744e-05	1	0	T	141328366	G	T	141328366	5	4	265	1	0	0	0	0	0	0	1	0	13143	1275	44	4	2416	4	RASA2	3	141328366	Splice_Site	SNP	G	TCGA-CV-6954-01A-11D-1912-08	3434893	141328366	56694064	43	47211											
ATR	545	broad.mit.edu	37	chr3	142215313	142215313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgaccagcctttctagctaCcctggcactctgcagccagc	7	9	9	16	0	2	1	0	1	2	0	2	1	2	1	4	1	6	3	4	1	2	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:142215313C>T	ENST00000350721.4	-	34	5909	c.5788G>A	c.(5788-5790)Gta>Ata	p.V1930I	ATR_ENST00000383101.3_Missense_Mutation_p.V1866I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1930	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTCTAGCTACCCTGGCACTC	0.488								Other conserved DNA damage response genes					4	97					0	0	0	0	T	142215313	C	T	142215313	3	4	265	1	0	0	0	0	1	0	0	0	1208	507	18	4	2202	4	ATR	3	142215313	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	886947	142215313	55807117	44	47212											
ATR	545	broad.mit.edu	37	chr3	142281919	142281919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagggagttgctgcaatccGcagaagtctcgttatgatcc	9	10	13	9	2	1	2	0	1	1	1	4	4	3	4	2	2	2	5	2	2	3	2	rs146405935	by1000genomes	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:142281919G>A	ENST00000350721.4	-	4	446	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	ATR_ENST00000383101.3_Missense_Mutation_p.R109W	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	109					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCTGCAATCCGCAGAAGTCTC	0.313								Other conserved DNA damage response genes					5	158					0	0	0	0	A	142281919	G	A	142281919	3	1	265	1	0	0	0	0	1	0	0	0	1208	1086	38	1	7785	1	ATR	3	142281919	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	66606	142281919	55740511	45	47213											
FAM53A	152877	broad.mit.edu	37	chr4	1656773	1656773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcacgcctccgtttgcGccggctcctcttcccactga	3	11	7	20	4	2	1	1	1	1	0	6	1	6	1	6	1	1	2	6	1	0	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:1656773G>A	ENST00000308132.6	-	4	1006	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	FAM53A_ENST00000472884.2_Missense_Mutation_p.R272C|FAM53A_ENST00000489363.1_Missense_Mutation_p.R272C|FAM53A_ENST00000461064.1_Missense_Mutation_p.R272C	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	272						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CTCCGTTTGCGCCGGCTCCTC	0.667													11	40					0	0	0	0	A	1656773	G	A	1656773	3	1	265	1	0	0	0	0	1	0	0	0	5626	1087	38	1	390	1	FAM53A	4	1656773	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08		1656773	189497503	46	47214											
EVC2	132884	broad.mit.edu	37	chr4	5627547	5627547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttttcctgctttaagtCattgtccaacttctgcttga	6	20	5	10	0	3	1	1	1	2	0	5	1	5	1	2	0	3	2	2	0	2	8			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:5627547C>T	ENST00000310917.2	-	13	2466	c.1735G>A	c.(1735-1737)Gac>Aac	p.D579N	EVC2_ENST00000344938.1_Missense_Mutation_p.D659N|EVC2_ENST00000344408.5_Missense_Mutation_p.D659N	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	659						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGCTTTAAGTCATTGTCCAAC	0.388													19	124					0	0	0	0	T	5627547	C	T	5627547	3	4	265	1	0	0	0	0	1	0	0	0	5324	826	29	2	1991	2	EVC2	4	5627547	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	3970774	5627547	185526729	47	47215											
TLR1	7096	broad.mit.edu	37	chr4	38800207	38800207	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacactgatatcaagataCtggattctattatgagaaat	18	12	6	5	0	2	3	1	2	1	2	2	5	2	4	0	1	2	0	0	1	8	5			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:38800207C>T	ENST00000308979.2	-	4	519	c.246G>A	c.(244-246)caG>caA	p.Q82Q	TLR1_ENST00000502213.2_Silent_p.Q82Q	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	82					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TATCAAGATACTGGATTCTAT	0.343													8	192					0	0	0	0	T	38800207	C	T	38800207	2	4	265	1	0	0	0	0	0	0	0	1	16043	564	20	4		4	TLR1	4	38800207	Silent	SNP	C	TCGA-CV-6954-01A-11D-1912-08	33172660	38800207	152354069	48	47216											
SLAIN2	57606	broad.mit.edu	37	chr4	48380075	48380075	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttatacttcctggaaattCaggtaaggagaaaatgatat	15	12	9	5	0	1	2	1	1	0	1	2	4	2	3	1	3	1	2	1	3	7	6			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:48380075C>G	ENST00000264313.6	+	3	1119	c.701C>G	c.(700-702)tCa>tGa	p.S234*	SLAIN2_ENST00000512093.1_Nonsense_Mutation_p.S41*|SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	234						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CCTGGAAATTCAGGTAAGGAG	0.398													3	128					0	0	0	0	G	48380075	C	G	48380075	4	3	265	1	0	0	0	0	0	1	0	0	14454	838	29	2	711	2	SLAIN2	4	48380075	Nonsense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	9579868	48380075	142774201	49	47217											
LRRC66	339977	broad.mit.edu	37	chr4	52861436	52861436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttacagagggaagctgtTatttctccggagagggaagg	11	11	14	5	1	1	2	0	0	1	2	2	5	1	4	1	4	2	2	1	4	4	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:52861436T>C	ENST00000343457.3	-	4	1758	c.1752A>G	c.(1750-1752)atA>atG	p.I584M		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	584						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGGAAGCTGTTATTTCTCCGG	0.498													7	247					0	0	0	0	C	52861436	T	C	52861436	3	2	265	1	0	0	0	0	1	0	0	0	9082	1744	61	5	894	5	LRRC66	4	52861436	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	4481361	52861436	138292840	50	47218											
EPHA5	2044	broad.mit.edu	37	chr4	66213889	66213889	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcggaaagctattgcttcTggggcagtccatctgattgg	7	14	12	8	1	2	1	0	1	2	0	4	2	3	2	1	4	2	3	1	4	2	5			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:66213889T>A	ENST00000273854.3	-	15	3141	c.2541A>T	c.(2539-2541)ccA>ccT	p.P847P	EPHA5_ENST00000354839.4_Silent_p.P825P|EPHA5_ENST00000511294.1_Silent_p.P848P|EPHA5_ENST00000432638.2_Silent_p.P684P	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	847	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTATTGCTTCTGGGGCAGTCC	0.413										TSP Lung(17;0.13)			13	50					0	0	0	0	A	66213889	T	A	66213889	2	1	265	1	0	0	0	0	0	0	0	1	5208	1567	55	5		5	EPHA5	4	66213889	Silent	SNP	T	TCGA-CV-6954-01A-11D-1912-08	13352453	66213889	124940387	51	47219											
EPHA5	2044	broad.mit.edu	37	chr4	66217243	66217243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacatagcccatgtcagaaAggtacttcattcctgcagag	12	9	9	11	0	2	2	2	0	0	2	3	2	3	2	2	1	3	3	2	1	3	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:66217243A>G	ENST00000273854.3	-	14	2972	c.2372T>C	c.(2371-2373)cTt>cCt	p.L791P	EPHA5_ENST00000354839.4_Missense_Mutation_p.L769P|EPHA5_ENST00000511294.1_Missense_Mutation_p.L792P|EPHA5_ENST00000432638.2_Missense_Mutation_p.L628P	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	791	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATGTCAGAAAGGTACTTCAT	0.423										TSP Lung(17;0.13)			8	29					0	0	0	0	G	66217243	A	G	66217243	3	3	265	1	0	0	0	0	1	0	0	0	5208	72	3	5	761	5	EPHA5	4	66217243	Missense_Mutation	SNP	A	TCGA-CV-6954-01A-11D-1912-08	3354	66217243	124937033	52	47220											
ARHGAP10	79658	broad.mit.edu	37	chr4	148944475	148944475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgtcagcatcaccccCaaatgcgccaccaaggcagt	10	6	8	17	1	2	0	2	0	0	0	2	0	2	0	5	1	3	2	5	1	2	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:148944475C>G	ENST00000336498.3	+	19	2017	c.1778C>G	c.(1777-1779)cCa>cGa	p.P593R	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.P242R	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	593					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCATCACCCCCAAATGCGCCA	0.512													9	57					0	0	0	0	G	148944475	C	G	148944475	3	3	265	1	0	0	0	0	1	0	0	0	864	594	21	4	1852	4	ARHGAP10	4	148944475	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	82727232	148944475	42209801	53	47221											
DNAH5	1767	broad.mit.edu	37	chr5	13762885	13762885	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggaagccatagctttcgtCcaggaacaaagaccagctac	15	6	9	11	1	0	1	0	0	0	1	2	3	1	3	3	2	5	2	3	2	6	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:13762885C>T	ENST00000265104.4	-	60	10331	c.10227G>A	c.(10225-10227)tgG>tgA	p.W3409*	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3409	Stalk (By similarity).		W -> S (in CILD3).		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAGCTTTCGTCCAGGAACAAA	0.448									Kartagener syndrome				29	106					0	0	0	0	T	13762885	C	T	13762885	4	4	265	1	0	0	0	0	0	1	0	0	4641	856	30	2	3727	2	DNAH5	5	13762885	Nonsense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08		13762885	167152375	54	47222											
CARD6	84674	broad.mit.edu	37	chr5	40852441	40852441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgatgaaagttcaagcacGagatgtgaccgctagggatt	12	9	12	8	2	1	4	1	3	0	1	1	6	1	5	2	1	1	3	2	1	3	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:40852441G>A	ENST00000254691.5	+	3	1206	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	336					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTTCAAGCACGAGATGTGACC	0.458													12	83					0	0	0	0	A	40852441	G	A	40852441	3	1	265	1	0	0	0	0	1	0	0	0	2675	1058	37	1	1017	1	CARD6	5	40852441	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	27089556	40852441	140062819	55	47223											
HCN1	348980	broad.mit.edu	37	chr5	45262321	45262321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggacacctcatggggcagcGagggctgcgaggcggagagt	8	5	19	9	3	1	1	1	0	0	1	1	5	1	2	1	6	2	2	1	6	0	0	rs140758934		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:45262321G>A	ENST00000303230.4	-	8	2432	c.2375C>T	c.(2374-2376)tCg>tTg	p.S792L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	792						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGGGGCAGCGAGGGCTGCGA	0.637													13	151					0	0	0	0	A	45262321	G	A	45262321	3	1	265	1	0	0	0	0	1	0	0	0	7046	1059	37	1	301	1	HCN1	5	45262321	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	4409880	45262321	135652939	56	47224											
ITGA1	3672	broad.mit.edu	37	chr5	52211331	52211331	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatggtaagacactgaaatTttttggccagtctatccacg	11	12	10	8	1	1	2	0	1	1	1	2	3	2	3	2	3	0	1	2	3	3	5	rs138709169		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:52211331T>G	ENST00000282588.6	+	15	2353	c.1895T>G	c.(1894-1896)tTt>tGt	p.F632C		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	632					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACACTGAAATTTTTTGGCCAG	0.423													3	143					0	0	0	0	G	52211331	T	G	52211331	3	3	265	1	0	0	0	0	1	0	0	0	7925	1841	64	5	1953	5	ITGA1	5	52211331	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	6949010	52211331	128703929	57	47225											
GPR98	84059	broad.mit.edu	37	chr5	90040951	90040951	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttttgttctggaagtaccTtctgcttatgatgtggcttc	5	19	9	8	0	3	1	0	1	3	0	4	2	3	2	1	2	2	4	1	2	3	7			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:90040951T>A	ENST00000405460.2	+	51	10734	c.10638T>A	c.(10636-10638)ccT>ccA	p.P3546P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3546					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGAAGTACCTTCTGCTTATG	0.408													9	287					0	0	0	0	A	90040951	T	A	90040951	2	1	265	1	0	0	0	0	0	0	0	1	6771	1596	56	5		5	GPR98	5	90040951	Silent	SNP	T	TCGA-CV-6954-01A-11D-1912-08	37829620	90040951	90874309	58	47226											
PSD2	84249	broad.mit.edu	37	chr5	139193154	139193154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagggggacatgggggCagctggtggtgatggggagc	6	8	23	4	0	0	2	0	2	0	0	0	4	0	4	0	8	2	3	0	8	0	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:139193154C>A	ENST00000274710.3	+	3	837	c.632C>A	c.(631-633)gCa>gAa	p.A211E		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	211					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACATGGGGGCAGCTGGTGGT	0.687													4	52					0.000602214	0.000685377	1	0	A	139193154	C	A	139193154	3	1	265	1	0	0	0	0	1	0	0	0	12726	710	25	4	638	4	PSD2	5	139193154	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	49152203	139193154	41722106	59	47227											
PCDHB7	56129	broad.mit.edu	37	chr5	140553868	140553868	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagactcgggcaccaacgcCcaggtcatctactccctgct	9	7	9	16	2	2	1	1	0	1	1	4	2	3	1	3	2	3	2	3	2	2	1	rs149570059		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:140553868C>T	ENST00000231137.3	+	1	1626	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		484	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCAACGCCCAGGTCATCT	0.642													28	112					0	0	0	0	T	140553868	C	T	140553868	2	4	265	1	0	0	0	0	0	0	0	1	11618	610	22	4		4	PCDHB7	5	140553868	Silent	SNP	C	TCGA-CV-6954-01A-11D-1912-08	1360714	140553868	40361392	60	47228											
SPINK5	11005	broad.mit.edu	37	chr5	147513386	147513386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaacaaatacacacatccGcagtacagggaagtgtgagg	16	5	10	10	1	0	1	0	1	0	0	1	2	1	2	2	2	3	2	2	2	5	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:147513386G>A	ENST00000359874.3	+	33	3285	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	SPINK5_ENST00000256084.7_Missense_Mutation_p.R1041H	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1041					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACACATCCGCAGTACAGGG	0.468													14	44					0	0	0	0	A	147513386	G	A	147513386	3	1	265	1	0	0	0	0	1	0	0	0	15152	1087	38	1	3354	1	SPINK5	5	147513386	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	6959518	147513386	33401874	61	47229											
FAT2	2196	broad.mit.edu	37	chr5	150885203	150885203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atagttggggggcacccgggGctggccctggcctgcaagag	6	6	18	11	1	0	1	0	0	0	1	0	1	0	1	3	7	1	4	3	7	2	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:150885203G>A	ENST00000261800.5	-	23	12985	c.12973C>T	c.(12973-12975)Ccc>Tcc	p.P4325S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4325					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCACCCGGGGCTGGCCCTGG	0.622													16	18					0	0	0	0	A	150885203	G	A	150885203	3	1	265	1	0	0	0	0	1	0	0	0	5735	1203	42	4	80	4	FAT2	5	150885203	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	3371817	150885203	30030057	62	47230											
HRH2	3274	broad.mit.edu	37	chr5	175110708	175110708	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtctatccacctggggTggaacagcaggaacgagacc	10	8	12	11	1	2	1	0	0	2	1	3	4	3	3	3	4	3	1	3	4	3	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:175110708T>A	ENST00000231683.2	+	1	2245	c.472T>A	c.(472-474)Tgg>Agg	p.W158R	HRH2_ENST00000377291.2_Missense_Mutation_p.W158R	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	158					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCACCTGGGGTGGAACAGCAG	0.547													15	43					0	0	0	0	A	175110708	T	A	175110708	3	1	265	1	0	0	0	0	1	0	0	0	7406	1696	59	5	474	5	HRH2	5	175110708	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	24225505	175110708	5804552	63	47231											
BTNL9	153579	broad.mit.edu	37	chr5	180483002	180483002	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagactggagacgggcTgaaggccaggctggtgagtg	8	7	18	8	1	1	4	1	2	0	2	1	5	1	4	1	5	0	3	1	5	1	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:180483002T>G	ENST00000327705.9	+	9	1173	c.942T>G	c.(940-942)gcT>gcG	p.A314A	BTNL9_ENST00000376842.3_Silent_p.A315A|BTNL9_ENST00000376841.2_Silent_p.A314A	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	314	B30.2/SPRY.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGACGGGCTGAAGGCCAGG	0.522													4	172					0	0	0	0	G	180483002	T	G	180483002	2	3	265	1	0	0	0	0	0	0	0	1	1577	1567	55	5		5	BTNL9	5	180483002	Silent	SNP	T	TCGA-CV-6954-01A-11D-1912-08	5372294	180483002	432258	64	47232											
SLC17A1	6568	broad.mit.edu	37	chr6	25826725	25826725	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttctttgtggaggtgttGggcaaaccatgtggatctgt	7	14	14	6	0	2	0	0	0	2	0	2	2	2	2	1	4	2	3	1	4	1	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:25826725G>A	ENST00000244527.4	-	3	286	c.171C>T	c.(169-171)ccC>ccT	p.P57P	SLC17A1_ENST00000476801.1_Silent_p.P57P|SLC17A1_ENST00000427328.1_Silent_p.P57P|SLC17A1_ENST00000468082.1_Silent_p.P57P	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	57					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGGAGGTGTTGGGCAAACCAT	0.408													56	176					0	0	0	0	A	25826725	G	A	25826725	2	1	265	1	0	0	0	0	0	0	0	1	14504	1335	47	4		4	SLC17A1	6	25826725	Silent	SNP	G	TCGA-CV-6954-01A-11D-1912-08		25826725	145288342	65	47233											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225492	26225492	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccggccacgggcggcgtgaAgaagccccatcgctaccgcc	7	4	13	17	6	0	2	0	1	0	1	2	2	1	2	6	3	2	1	6	3	3	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:26225492A>T	ENST00000360408.1	+	1	110	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGCGGCGTGAAGAAGCCCCAT	0.627													87	56					0	0	0	0	T	26225492	A	T	26225492	3	4	265	1	0	0	0	0	1	0	0	0	7209	72	3	5	112	5	HIST1H3E	6	26225492	Missense_Mutation	SNP	A	TCGA-CV-6954-01A-11D-1912-08	398767	26225492	144889575	66	47234											
OR5V1	81696	broad.mit.edu	37	chr6	29323045	29323045	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccaaagaggaaattggtgGctgccacttgctccctatag	11	10	10	10	0	0	1	0	0	0	1	2	2	2	2	3	3	2	2	3	3	4	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:29323045G>C	ENST00000377154.1	-	4	1227	c.928C>G	c.(928-930)Cca>Gca	p.P310A	OR5V1_ENST00000543825.1_Missense_Mutation_p.P310A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAAATTGGTGGCTGCCACTTG	0.368													4	113					0	0	0	0	C	29323045	G	C	29323045	3	2	265	1	0	0	0	0	1	0	0	0	11255	1203	42	4	40	4	OR5V1	6	29323045	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	3097553	29323045	141792022	67	47235											
HSPA1L	3305	broad.mit.edu	37	chr6	31778509	31778509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagttgcgctttatcaggGcagtcatcacgcccccagcc	7	9	11	14	2	3	0	3	0	0	0	3	1	3	1	3	2	2	3	3	2	1	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:31778509G>T	ENST00000375654.4	-	2	1430	c.1241C>A	c.(1240-1242)gCc>gAc	p.A414D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A414D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	414					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTTTATCAGGGCAGTCATCAC	0.597													21	226					2.37509e-13	3.06836e-13	1	0	T	31778509	G	T	31778509	3	4	265	1	0	0	0	0	1	0	0	0	7462	1203	42	4	688	4	HSPA1L	6	31778509	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	2455464	31778509	139336558	68	47236											
TAP1	6890	broad.mit.edu	37	chr6	32819997	32819997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgttatagatcccgtcacCcacgaactccagcactgcac	10	9	7	15	2	1	1	1	0	0	1	3	2	3	1	3	0	3	4	3	0	3	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:32819997C>T	ENST00000354258.4	-	3	1074	c.913G>A	c.(913-915)Ggt>Agt	p.G305S	TAP1_ENST00000425148.2_Missense_Mutation_p.G44S|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	305	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						ATCCCGTCACCCACGAACTCC	0.537													9	123					0	0	0	0	T	32819997	C	T	32819997	3	4	265	1	0	0	0	0	1	0	0	0	15641	623	22	4	1549	4	TAP1	6	32819997	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	1041488	32819997	138295070	69	47237											
KIF6	221458	broad.mit.edu	37	chr6	39512320	39512320	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtttcttcatcacttcAgaaaggatactgatttcgtt	11	15	8	7	1	4	2	3	1	1	1	5	4	4	4	0	2	1	2	0	2	3	6			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:39512320A>T	ENST00000538893.1	-	12	1461	c.1437T>A	c.(1435-1437)tcT>tcA	p.S479S	KIF6_ENST00000287152.7_Intron|KIF6_ENST00000373216.3_Intron|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000373213.4_Intron			Q6ZMV9	KIF6_HUMAN	kinesin family member 6	479					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCATCACTTCAGAAAGGATAC	0.408													38	32					0	0	0	0	T	39512320	A	T	39512320	2	4	265	1	0	0	0	0	0	0	0	1	8359	203	7	5		5	KIF6	6	39512320	Silent	SNP	A	TCGA-CV-6954-01A-11D-1912-08	6692323	39512320	131602747	70	47238											
ZNF318	24149	broad.mit.edu	37	chr6	43305026	43305026	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaccttgacactggagctTtaaccaaattcagagggtcg	11	9	12	9	1	1	2	1	1	0	1	2	4	1	4	2	3	2	1	2	3	2	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:43305026T>G	ENST00000361428.2	-	10	6787	c.6710A>C	c.(6709-6711)aAa>aCa	p.K2237T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2237					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CACTGGAGCTTTAACCAAATT	0.493													5	119					0	0	0	0	G	43305026	T	G	43305026	3	3	265	1	0	0	0	0	1	0	0	0	17931	1841	64	5	133	5	ZNF318	6	43305026	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	3792706	43305026	127810041	71	47239											
AARS2	57505	broad.mit.edu	37	chr6	44272035	44272035	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgggtggccgtatgcttCgccatgcagcctagacgcca	7	8	14	12	3	0	1	0	0	0	1	1	1	0	1	4	3	3	3	4	3	2	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:44272035C>T	ENST00000244571.4	-	14	1892	c.1890G>A	c.(1888-1890)gcG>gcA	p.A630A	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	630					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCGTATGCTTCGCCATGCAGC	0.627											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	78					0	0	0	0	T	44272035	C	T	44272035	2	4	265	1	0	0	0	0	0	0	0	1	20	871	31	1		1	AARS2	6	44272035	Silent	SNP	C	TCGA-CV-6954-01A-11D-1912-08	967009	44272035	126843032	72	47240											
FAM162B	221303	broad.mit.edu	37	chr6	117086362	117086362	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaacgccctgtccacagcaGgattttcttgtcgaactgcg	9	10	10	12	3	1	0	0	0	1	0	3	3	2	1	2	1	4	1	2	1	2	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:117086362G>A	ENST00000368557.4	-	2	375	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	77						integral to membrane				large_intestine(2)|lung(4)	6						GTCCACAGCAGGATTTTCTTG	0.632													14	48					0	0	0	0	A	117086362	G	A	117086362	2	1	265	1	0	0	0	0	0	0	0	1	5516	991	35	4		4	FAM162B	6	117086362	Silent	SNP	G	TCGA-CV-6954-01A-11D-1912-08	72814327	117086362	54028705	73	47241											
FNDC1	84624	broad.mit.edu	37	chr6	159687230	159687230	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagttcgtgggagttgttcTttgtaattcactgaggtata	10	16	11	4	1	2	1	1	1	1	0	3	2	2	2	0	2	0	5	0	2	4	8			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:159687230T>C	ENST00000297267.9	+	21	5599	c.5399T>C	c.(5398-5400)cTt>cCt	p.L1800P	FNDC1_ENST00000340366.6_Missense_Mutation_p.L1737P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1800						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGAGTTGTTCTTTGTAATTCA	0.443													26	72					0	0	0	0	C	159687230	T	C	159687230	3	2	265	1	0	0	0	0	1	0	0	0	6013	1609	56	5	5481	5	FNDC1	6	159687230	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	42600868	159687230	11427837	74	47242											
PLG	5340	broad.mit.edu	37	chr6	161143527	161143527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcctccaccaccaccacagGaaagaagtgtcagtcttggt	12	8	8	13	0	2	1	1	0	1	1	4	2	4	2	5	2	0	0	5	2	2	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:161143527G>T	ENST00000308192.9	+	10	1247	c.1184G>T	c.(1183-1185)gGa>gTa	p.G395V		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	395	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCACCACAGGAAAGAAGTGT	0.493													11	112					3.86212e-05	4.54703e-05	1	0	T	161143527	G	T	161143527	3	4	265	1	0	0	0	0	1	0	0	0	12158	1174	41	2	1226	2	PLG	6	161143527	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	1456297	161143527	9971540	75	47243											
C7orf50	84310	broad.mit.edu	37	chr7	1037377	1037377	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccttctgcaccgtcagctCtcgggcccggccctgcagcc	3	7	11	20	4	3	0	1	0	2	0	4	0	3	0	5	2	4	3	5	2	0	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:1037377C>A	ENST00000397098.3	-	5	1395	c.469G>T	c.(469-471)Gag>Tag	p.E157*	C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000397100.2_Nonsense_Mutation_p.E157*|C7orf50_ENST00000357429.6_Nonsense_Mutation_p.E157*			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	157							protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		ACCGTCAGCTCTCGGGCCCGG	0.687													5	100					0.00116845	0.00131726	1	0	A	1037377	C	A	1037377	4	1	265	1	0	0	0	0	0	1	0	0	2422	922	32	2	119	2	C7orf50	7	1037377	Nonsense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08		1037377	158101286	76	47244											
CHST12	55501	broad.mit.edu	37	chr7	2472365	2472365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtactgggacagcgcaggcGccgcgcacttctacttgcac	7	8	12	14	4	1	0	0	0	1	0	1	1	1	1	1	2	4	4	1	2	2	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:2472365G>A	ENST00000258711.6	+	2	226	c.91G>A	c.(91-93)Gcc>Acc	p.A31T		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	31					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CAGCGCAGGCGCCGCGCACTT	0.687													68	63					0	0	0	0	A	2472365	G	A	2472365	3	1	265	1	0	0	0	0	1	0	0	0	3429	1087	38	1	93	1	CHST12	7	2472365	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	1434988	2472365	156666298	77	47245											
THSD7A	221981	broad.mit.edu	37	chr7	11630196	11630196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagggccgtctggttgccGcgcctcttgtcctgctgact	3	11	13	14	3	2	2	0	1	2	1	3	2	3	2	4	2	2	2	4	2	0	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:11630196G>A	ENST00000423059.3	-	4	1595	c.1344C>T	c.(1342-1344)cgC>cgT	p.R448R		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	448	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGGTTGCCGCGCCTCTTGT	0.557										HNSCC(18;0.044)			10	48					0	0	0	0	A	11630196	G	A	11630196	2	1	265	1	0	0	0	0	0	0	0	1	15973	1074	38	1		1	THSD7A	7	11630196	Silent	SNP	G	TCGA-CV-6954-01A-11D-1912-08	9157831	11630196	147508467	78	47246											
DFNA5	1687	broad.mit.edu	37	chr7	24758712	24758712	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgccaccacacttctccTcgacctgcatgtgctcagag	8	9	8	16	2	2	1	1	0	1	1	4	3	2	1	4	0	3	2	4	0	0	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:24758712T>A	ENST00000545231.1	-	6	1188	c.38A>T	c.(37-39)gAg>gTg	p.E13V	DFNA5_ENST00000409775.3_Missense_Mutation_p.E177V|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409970.1_Missense_Mutation_p.E13V|DFNA5_ENST00000342947.3_Missense_Mutation_p.E177V|DFNA5_ENST00000419307.1_Missense_Mutation_p.E13V			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	177					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ACACTTCTCCTCGACCTGCAT	0.577													29	135					0	0	0	0	A	24758712	T	A	24758712	3	1	265	1	0	0	0	0	1	0	0	0	4491	1551	54	5	988	5	DFNA5	7	24758712	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	13128516	24758712	134379951	79	47247											
ELMO1	9844	broad.mit.edu	37	chr7	37250998	37250998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atagcttacttacaatgaacCcaagcttcttataatctcgc	13	13	4	11	1	2	1	0	1	2	0	3	1	2	1	1	0	5	2	1	0	8	6			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:37250998C>T	ENST00000310758.4	-	13	1726	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E	ELMO1_ENST00000448602.1_Missense_Mutation_p.G360E|ELMO1_ENST00000442504.1_Missense_Mutation_p.G360E	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	360	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TACAATGAACCCAAGCTTCTT	0.507													4	52					0	0	0	0	T	37250998	C	T	37250998	3	4	265	1	0	0	0	0	1	0	0	0	5103	623	22	4	1144	4	ELMO1	7	37250998	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	12492286	37250998	121887665	80	47248											
SEMA3A	10371	broad.mit.edu	37	chr7	83592582	83592582	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaccagcgctctctgcgacTtcggactgcattccaaaaat	11	9	8	13	3	1	1	0	0	1	1	4	3	2	2	2	1	3	2	2	1	2	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:83592582T>A	ENST00000265362.3	-	16	2113	c.1799A>T	c.(1798-1800)aAg>aTg	p.K600M	SEMA3A_ENST00000436949.1_Missense_Mutation_p.K600M	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	600	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTCTGCGACTTCGGACTGCA	0.438													34	85					0	0	0	0	A	83592582	T	A	83592582	3	1	265	1	0	0	0	0	1	0	0	0	14111	1609	56	5	524	5	SEMA3A	7	83592582	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	46341584	83592582	75546081	81	47249											
TRRAP	8295	broad.mit.edu	37	chr7	98548528	98548528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catatcttgaatcctgctttCttgtacagctttgagaaggg	9	15	9	8	0	2	2	0	2	2	1	3	3	3	2	1	1	3	3	1	1	4	6			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:98548528C>G	ENST00000359863.4	+	38	5552	c.5343C>G	c.(5341-5343)ttC>ttG	p.F1781L	TRRAP_ENST00000446306.3_Missense_Mutation_p.F1762L|TRRAP_ENST00000355540.3_Missense_Mutation_p.F1763L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1781					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCCTGCTTTCTTGTACAGCT	0.418													7	207					0	0	0	0	G	98548528	C	G	98548528	3	3	265	1	0	0	0	0	1	0	0	0	16696	912	32	2	5431	2	TRRAP	7	98548528	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	14955946	98548528	60590135	82	47250											
CHD7	55636	broad.mit.edu	37	chr8	61777711	61777711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgctgctgtggcctccaCgtcagggatcaaccctttgc	5	9	11	16	3	2	0	2	0	0	0	3	1	3	1	4	2	3	2	4	2	1	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:61777711C>T	ENST00000423902.2	+	38	8692	c.8213C>T	c.(8212-8214)aCg>aTg	p.T2738M	CHD7_ENST00000524602.1_Missense_Mutation_p.T689M	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2738					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTGGCCTCCACGTCAGGGATC	0.612													9	17					0	0	0	0	T	61777711	C	T	61777711	3	4	265	1	0	0	0	0	1	0	0	0	3359	536	19	1	8359	1	CHD7	8	61777711	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08		61777711	84586311	83	47251											
ASPH	444	broad.mit.edu	37	chr8	62556539	62556539	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacatcatctcttccataTcctgattacagtcttgtgaa	11	14	5	11	0	3	3	1	2	2	1	6	3	5	3	2	0	1	0	2	0	3	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:62556539T>G	ENST00000541428.1	-	8	747	c.587A>C	c.(586-588)gAt>gCt	p.D196A	ASPH_ENST00000445642.3_Missense_Mutation_p.D211A|ASPH_ENST00000522919.1_Missense_Mutation_p.D38A|ASPH_ENST00000518068.1_Missense_Mutation_p.D182A|ASPH_ENST00000522835.1_Missense_Mutation_p.D168A|ASPH_ENST00000379454.4_Missense_Mutation_p.D225A|ASPH_ENST00000356457.5_Missense_Mutation_p.D225A|ASPH_ENST00000517903.1_Missense_Mutation_p.D211A|ASPH_ENST00000517847.2_Missense_Mutation_p.D211A	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	225	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTCTTCCATATCCTGATTACA	0.328													7	19					0	0	0	0	G	62556539	T	G	62556539	3	3	265	1	0	0	0	0	1	0	0	0	1057	1435	50	5	1686	5	ASPH	8	62556539	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	778828	62556539	83807483	84	47252											
VPS13B	157680	broad.mit.edu	37	chr8	100513997	100513997	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacaagtaatattggaggaaCcagtggacgtgttagtttat	13	13	11	4	1	0	0	0	0	0	0	0	3	0	3	1	3	2	3	1	3	7	7			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:100513997C>G	ENST00000395996.1	+	26	4064	c.3953C>G	c.(3952-3954)aCc>aGc	p.T1318S	VPS13B_ENST00000358544.2_Missense_Mutation_p.T1318S|VPS13B_ENST00000357162.2_Missense_Mutation_p.T1318S			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1318					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTGGAGGAACCAGTGGACGT	0.423													10	125					0	0	0	0	G	100513997	C	G	100513997	3	3	265	1	0	0	0	0	1	0	0	0	17286	507	18	4	4174	4	VPS13B	8	100513997	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	37957458	100513997	45850025	85	47253											
PKHD1L1	93035	broad.mit.edu	37	chr8	110509169	110509169	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagtttaatcctgtggaaaAgtggtttgacaatgaagccc	12	11	10	8	0	0	2	0	2	0	0	1	3	1	3	3	2	1	2	3	2	5	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:110509169A>T	ENST00000378402.5	+	64	10453	c.10349A>T	c.(10348-10350)aAg>aTg	p.K3450M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3450					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTGTGGAAAAGTGGTTTGAC	0.373										HNSCC(38;0.096)			22	106					0	0	0	0	T	110509169	A	T	110509169	3	4	265	1	0	0	0	0	1	0	0	0	12044	72	3	5	10603	5	PKHD1L1	8	110509169	Missense_Mutation	SNP	A	TCGA-CV-6954-01A-11D-1912-08	9995172	110509169	35854853	86	47254											
FAM83A	84985	broad.mit.edu	37	chr8	124219421	124219421	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctggctctgcggacacgtGcaccggaacatcctctccaa	9	7	9	16	3	2	0	0	0	2	0	4	2	3	2	4	3	3	2	4	3	2	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:124219421G>C	ENST00000518448.1	+	5	2812	c.798G>C	c.(796-798)gtG>gtC	p.V266V	FAM83A_ENST00000546351.1_Silent_p.V210V|FAM83A_ENST00000318462.6_Silent_p.V266V|FAM83A_ENST00000522648.1_Silent_p.V210V|FAM83A_ENST00000276699.6_Silent_p.V266V|FAM83A_ENST00000536633.1_Silent_p.V266V			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	266										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCGGACACGTGCACCGGAACA	0.622													7	9					0	0	0	0	C	124219421	G	C	124219421	2	2	265	1	0	0	0	0	0	0	0	1	5679	1306	46	4		4	FAM83A	8	124219421	Silent	SNP	G	TCGA-CV-6954-01A-11D-1912-08	13710252	124219421	22144601	87	47255											
KIAA0196	9897	broad.mit.edu	37	chr8	126091066	126091066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactctctggaaatagctctCgggatagttggatggtcttt	8	14	11	8	1	3	0	0	0	3	0	5	3	3	3	0	4	1	2	0	4	3	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:126091066C>T	ENST00000318410.7	-	6	974	c.625G>A	c.(625-627)Gag>Aag	p.E209K	KIAA0196_ENST00000517845.1_Missense_Mutation_p.E61K	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	209					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAATAGCTCTCGGGATAGTTG	0.423													17	53					0	0	0	0	T	126091066	C	T	126091066	3	4	265	1	0	0	0	0	1	0	0	0	8212	893	31	1	2950	1	KIAA0196	8	126091066	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	1871645	126091066	20272956	88	47256											
SPATC1	375686	broad.mit.edu	37	chr8	145101649	145101649	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacgggcgggtgcaccctgCgctgaccgagcagctggtga	7	5	16	13	4	0	2	0	2	0	0	0	3	0	2	2	3	5	4	2	3	1	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:145101649C>A	ENST00000377470.3	+	5	1670	c.1568C>A	c.(1567-1569)gCg>gAg	p.A523E	SPATC1_ENST00000447830.2_3'UTR	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	523										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGCACCCTGCGCTGACCGAG	0.642													18	49					3.52763e-06	4.2581e-06	1	0	A	145101649	C	A	145101649	3	1	265	1	0	0	0	0	1	0	0	0	15107	768	27	3	1586	3	SPATC1	8	145101649	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	19010583	145101649	1262373	89	47257											
ZNF782	158431	broad.mit.edu	37	chr9	99581247	99581247	+	Frame_Shift_Del	DEL	A	A	-																															gaaccttctgatgtacactgAaagttgactggtagctgaat																										TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:99581247delA	ENST00000481138.1	-	6	1719	c.1058delT	c.(1057-1059)tcfs	p.F353fs	ZNF782_ENST00000535338.1_Frame_Shift_Del_p.F221fs	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ATGTACACTGAAAGTTGACTG	0.408													93	62	---	---	---	---					-	99581247	A	-	99581247	7	5	265	1	0	1	0	1	0	0	0	0	18248	246	9	0	1045	0	ZNF782	9	99581247	Frame_Shift_Del	DEL	A	TCGA-CV-6954-01A-11D-1912-08		99581247	41632184	90	47258											
CORO2A	7464	broad.mit.edu	37	chr9	100895440	100895440	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcacatcttggtgacagctAatcgtactcatggggcttgt	9	13	10	9	1	3	1	2	1	1	0	4	1	3	1	0	3	2	3	0	3	2	4	rs143485689		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:100895440A>G	ENST00000343933.5	-	5	785	c.528T>C	c.(526-528)atT>atC	p.I176I	CORO2A_ENST00000375077.4_Silent_p.I176I	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	176					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGTGACAGCTAATCGTACTCA	0.542													5	102					0	0	0	0	G	100895440	A	G	100895440	2	3	265	1	0	0	0	0	0	0	0	1	3786	358	13	5		5	CORO2A	9	100895440	Silent	SNP	A	TCGA-CV-6954-01A-11D-1912-08	1314193	100895440	40317991	91	47259											
OR13D1	286365	broad.mit.edu	37	chr9	107457531	107457531	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctacctgttcagcgcacTcgattgtggtcatcttattc	6	16	7	12	2	4	0	2	0	2	0	7	1	4	0	1	1	2	2	1	1	2	5			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:107457531T>A	ENST00000318763.5	+	1	872	c.829T>A	c.(829-831)Tcg>Acg	p.S277T		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	277			S -> L (in dbSNP:rs10761073).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TTCAGCGCACTCGATTGTGGT	0.388													6	97					0	0	0	0	A	107457531	T	A	107457531	3	1	265	1	0	0	0	0	1	0	0	0	11011	1551	54	5	831	5	OR13D1	9	107457531	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	6562091	107457531	33755900	92	47260											
LPAR1	1902	broad.mit.edu	37	chr9	113704008	113704008	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaatgaccaccactacccgCcggttgctcatccgtgtgtg	8	9	9	15	3	1	1	1	1	0	0	2	1	2	1	5	1	2	2	5	1	2	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:113704008C>T	ENST00000374431.3	-	4	869	c.486G>A	c.(484-486)cgG>cgA	p.R162R	LPAR1_ENST00000358883.4_Silent_p.R162R|LPAR1_ENST00000541779.1_Silent_p.R163R|LPAR1_ENST00000374430.2_Silent_p.R162R|LPAR1_ENST00000538760.1_Silent_p.R163R	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	162					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CCACTACCCGCCGGTTGCTCA	0.512													22	74					0	0	0	0	T	113704008	C	T	113704008	2	4	265	1	0	0	0	0	0	0	0	1	8968	726	26	4		4	LPAR1	9	113704008	Silent	SNP	C	TCGA-CV-6954-01A-11D-1912-08	6246477	113704008	27509423	93	47261											
RALGPS1	9649	broad.mit.edu	37	chr9	129958852	129958852	+	Frame_Shift_Del	DEL	C	C	-																															agtgtcctagagtcccgcagCccccgaaggggcctggctct																										TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:129958852delC	ENST00000259351.5	+	13	1404	c.1137delC	c.(1135-1137)agfs	p.S379fs	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	379					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGTCCCGCAGCCCCCGAAGGG	0.562													19	101	---	---	---	---					-	129958852	C	-	129958852	7	5	265	1	0	1	0	1	0	0	0	0	13099	738	26	0	1183	0	RALGPS1	9	129958852	Frame_Shift_Del	DEL	C	TCGA-CV-6954-01A-11D-1912-08	16254844	129958852	11254579	94	47262											
CELF2	10659	broad.mit.edu	37	chr10	11047387	11047387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgctgttactatgagaaatGaagagctgcttttaaggtat	12	13	10	6	1	0	3	0	2	0	2	0	4	0	3	1	1	3	5	1	1	6	5			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:11047387G>A	ENST00000379261.4	+	1	129	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	CELF2_ENST00000416382.2_Missense_Mutation_p.E13K	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	13	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TATGAGAAATGAAGAGCTGCT	0.398													41	147					0	0	0	0	A	11047387	G	A	11047387	3	1	265	1	0	0	0	0	1	0	0	0	3245	1291	45	2	39	2	CELF2	10	11047387	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08		11047387	124487360	95	47263											
PTER	9317	broad.mit.edu	37	chr10	16526619	16526619	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attaaatcaggagacagaagCcataaaggaagaactgttgt	18	8	10	5	0	1	3	1	0	0	3	1	5	1	4	1	2	2	1	1	2	7	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:16526619C>G	ENST00000378000.1	+	3	482	c.236C>G	c.(235-237)gCc>gGc	p.A79G	PTER_ENST00000298942.3_Missense_Mutation_p.A79G|PTER_ENST00000535784.2_Missense_Mutation_p.A79G|PTER_ENST00000423462.2_Missense_Mutation_p.A79G	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	79					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GAGACAGAAGCCATAAAGGAA	0.393													4	74					0	0	0	0	G	16526619	C	G	16526619	3	3	265	1	0	0	0	0	1	0	0	0	12818	739	26	4	238	4	PTER	10	16526619	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	5479232	16526619	119008128	96	47264											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508758	37508758	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagagaaaaatgaggagaTatttaattacaataaccatt	22	10	6	3	0	0	3	0	1	0	2	0	5	0	3	1	1	2	0	1	1	9	6			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:37508758T>A	ENST00000374660.1	+	40	4406	c.4307T>A	c.(4306-4308)aTa>aAa	p.I1436K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I1317K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1317K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1373						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATGAGGAGATATTTAATTAC	0.274													4	2					0	0	0	0	A	37508758	T	A	37508758	3	1	265	1	0	0	0	0	1	0	0	0	658	1406	49	5	4084	5	ANKRD30A	10	37508758	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	20982139	37508758	98025989	97	47265											
RHOBTB1	9886	broad.mit.edu	37	chr10	62652607	62652607	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgattaacagcttccaggTcggcatagcggagatcaagc	11	8	11	11	3	1	1	1	0	0	1	4	3	2	1	1	3	4	2	1	3	3	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:62652607T>C	ENST00000337910.5	-	5	780	c.443A>G	c.(442-444)gAc>gGc	p.D148G	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D148G	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	148	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AGCTTCCAGGTCGGCATAGCG	0.498													12	47					0	0	0	0	C	62652607	T	C	62652607	3	2	265	1	0	0	0	0	1	0	0	0	13416	1667	58	5	1675	5	RHOBTB1	10	62652607	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	25143849	62652607	72882140	98	47266											
FGFR2	2263	broad.mit.edu	37	chr10	123310907	123310907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcagcgaaacttgacaGtgttggccgcaggcacagca	10	6	14	11	2	0	1	0	1	0	0	0	2	0	1	1	3	3	5	1	3	1	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:123310907G>T	ENST00000358487.5	-	5	793	c.521C>A	c.(520-522)aCt>aAt	p.T174N	FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000457416.2_Missense_Mutation_p.T174N|FGFR2_ENST00000369060.4_Missense_Mutation_p.T174N|FGFR2_ENST00000359354.2_Missense_Mutation_p.T174N|FGFR2_ENST00000369061.4_Missense_Mutation_p.T174N|FGFR2_ENST00000357555.5_Missense_Mutation_p.T85N|FGFR2_ENST00000351936.6_Missense_Mutation_p.T174N|FGFR2_ENST00000356226.4_Missense_Mutation_p.T59N|FGFR2_ENST00000369059.1_Missense_Mutation_p.T59N|FGFR2_ENST00000346997.2_Missense_Mutation_p.T174N|FGFR2_ENST00000360144.3_Missense_Mutation_p.T85N|FGFR2_ENST00000369056.1_Missense_Mutation_p.T174N	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	174	Heparin-binding.|Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AAACTTGACAGTGTTGGCCGC	0.517		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				15	81					1.15088e-07	1.4401e-07	1	0	T	123310907	G	T	123310907	3	4	265	1	0	0	0	0	1	0	0	0	5911	1029	36	4	2256	4	FGFR2	10	123310907	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	60658300	123310907	12223840	99	47267											
OR51B2	79345	broad.mit.edu	37	chr11	5344901	5344901	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagaagaggatgatcagAcagtctaggaagattgttaa	16	9	13	3	0	2	5	1	1	1	4	2	8	2	7	0	3	0	1	0	3	5	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:5344901A>G	ENST00000328813.2	-	1	681	c.627T>C	c.(625-627)tgT>tgC	p.C209C	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	209			C -> S (in dbSNP:rs7937237).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGATCAGACAGTCTAGGA	0.403													5	24					0	0	0	0	G	5344901	A	G	5344901	2	3	265	1	0	0	0	0	0	0	0	1	11160	273	10	5		5	OR51B2	11	5344901	Silent	SNP	A	TCGA-CV-6954-01A-11D-1912-08		5344901	129661615	100	47268											
OR10A2	341276	broad.mit.edu	37	chr11	6891056	6891056	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctaaccatctacctggTcaccctgatgggaaactgcc	10	11	7	13	0	3	1	1	1	2	0	3	2	3	2	4	2	4	0	4	2	3	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:6891056T>G	ENST00000307322.4	+	1	133	c.71T>G	c.(70-72)gTc>gGc	p.V24G		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCTACCTGGTCACCCTGATG	0.448													5	251					0	0	0	0	G	6891056	T	G	6891056	3	3	265	1	0	0	0	0	1	0	0	0	10961	1667	58	5	73	5	OR10A2	11	6891056	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	1546155	6891056	128115460	101	47269											
OR8K5	219453	broad.mit.edu	37	chr11	55927529	55927529	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataataggaaatagtatttcGatccacaacaaaatttgcca	18	11	5	7	1	0	0	0	0	0	0	2	2	1	1	2	1	2	1	2	1	8	6	rs147577134		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:55927529G>A	ENST00000313447.1	-	1	264	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89R(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATAGTATTTCGATCCACAACA	0.393													13	65					0	0	0	0	A	55927529	G	A	55927529	4	1	265	1	0	0	0	0	0	1	0	0	11316	1066	37	1	661	1	OR8K5	11	55927529	Nonsense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	49036473	55927529	79078987	102	47270											
CDC42BPG	55561	broad.mit.edu	37	chr11	64604277	64604277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagctcccgatggtctgtggGggcgtgcagggcctctggag	4	8	18	11	2	2	0	0	0	2	0	3	2	3	1	2	5	2	2	2	5	0	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:64604277G>C	ENST00000342711.5	-	11	1317	c.1318C>G	c.(1318-1320)Ccc>Gcc	p.P440A		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	440					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TGGTCTGTGGGGGCGTGCAGG	0.701													7	9					0	0	0	0	C	64604277	G	C	64604277	3	2	265	1	0	0	0	0	1	0	0	0	3103	1232	43	4	3445	4	CDC42BPG	11	64604277	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	8676748	64604277	70402239	103	47271											
SUV420H1	51111	broad.mit.edu	37	chr11	67926242	67926242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccccctgcgaatgagcaCctctcacaggattctgtctg	7	11	8	15	1	4	1	1	1	4	0	6	3	4	2	3	1	2	1	3	1	1	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:67926242C>A	ENST00000304363.4	-	11	1924	c.1571G>T	c.(1570-1572)gGt>gTt	p.G524V		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CGAATGAGCACCTCTCACAGG	0.552													4	129					1.23904e-05	1.48809e-05	1	0	A	67926242	C	A	67926242	3	1	265	1	0	0	0	0	1	0	0	0	15504	507	18	4	1090	4	SUV420H1	11	67926242	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	3321965	67926242	67080274	104	47272											
LRRC32	2615	broad.mit.edu	37	chr11	76371159	76371159	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagtgccaggacctccAaggaggcctccaggcctccc	7	5	11	18	0	0	0	0	0	0	0	3	2	3	2	8	4	2	1	8	4	1	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:76371159A>T	ENST00000407242.2	-	3	1720	c.1478T>A	c.(1477-1479)tTg>tAg	p.L493*	LRRC32_ENST00000404995.1_Nonsense_Mutation_p.L493*|LRRC32_ENST00000260061.5_Nonsense_Mutation_p.L493*|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	493						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGGACCTCCAAGGAGGCCTC	0.652													7	31					0	0	0	0	T	76371159	A	T	76371159	4	4	265	1	0	0	0	0	0	1	0	0	9051	131	5	5	514	5	LRRC32	11	76371159	Nonsense_Mutation	SNP	A	TCGA-CV-6954-01A-11D-1912-08	8444917	76371159	58635357	105	47273											
GRIA4	2893	broad.mit.edu	37	chr11	105623796	105623796	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacctcattctgcagcgccTtacatatctccctcatcaca	9	12	4	16	1	5	1	3	1	2	0	6	1	5	1	3	0	3	1	3	0	2	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:105623796T>A	ENST00000393127.2	+	4	783	c.337T>A	c.(337-339)Tta>Ata	p.L113I	GRIA4_ENST00000393125.2_Missense_Mutation_p.L113I|GRIA4_ENST00000525187.1_Missense_Mutation_p.L113I|GRIA4_ENST00000428631.2_Missense_Mutation_p.L113I|GRIA4_ENST00000282499.5_Missense_Mutation_p.L113I|GRIA4_ENST00000530497.1_Missense_Mutation_p.L113I	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	113					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CTGCAGCGCCTTACATATCTC	0.463													18	72					0	0	0	0	A	105623796	T	A	105623796	3	1	265	1	0	0	0	0	1	0	0	0	6820	1606	56	5	347	5	GRIA4	11	105623796	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	29252637	105623796	29382720	106	47274											
TMPRSS13	84000	broad.mit.edu	37	chr11	117789510	117789510	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccagctggagatgcctggGctggagatgctccagctgaa	8	8	14	11	0	0	3	0	1	0	2	2	5	2	3	3	3	4	4	3	3	1	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:117789510G>C	ENST00000528626.1	-	2	138	c.65C>G	c.(64-66)gCc>gGc	p.A22G	TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A22G|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A22G|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.A22G|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A22G	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	22	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AGATGCCTGGGCTGGAGATGC	0.627													9	52					0	0	0	0	C	117789510	G	C	117789510	3	2	265	1	0	0	0	0	1	0	0	0	16339	1203	42	4	1686	4	TMPRSS13	11	117789510	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	12165714	117789510	17217006	107	47275											
ROBO4	54538	broad.mit.edu	37	chr11	124763789	124763789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccctagctcggcgccggcGgtggatacacacggcggtgc	6	5	15	15	6	0	0	0	0	0	0	1	1	0	1	2	6	3	1	2	6	2	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:124763789G>A	ENST00000306534.3	-	9	1956	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	ROBO4_ENST00000533054.1_Missense_Mutation_p.R346C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	491					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R491C(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CGGCGCCGGCGGTGGATACAC	0.647													4	17					0	0	0	0	A	124763789	G	A	124763789	3	1	265	1	0	0	0	0	1	0	0	0	13601	1116	39	1	1592	1	ROBO4	11	124763789	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	6974279	124763789	10242727	108	47276											
NCAPD3	23310	broad.mit.edu	37	chr11	134027943	134027943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagaattcaggattgcaaTggtgctcagggacatgggcc	11	8	14	8	0	2	1	2	0	0	1	2	4	2	3	1	4	2	2	1	4	2	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:134027943T>C	ENST00000534548.2	-	31	4118	c.4054A>G	c.(4054-4056)Att>Gtt	p.I1352V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1352					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGGATTGCAATGGTGCTCAGG	0.552													38	137					0	0	0	0	C	134027943	T	C	134027943	3	2	265	1	0	0	0	0	1	0	0	0	10276	1464	51	5	462	5	NCAPD3	11	134027943	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	9264154	134027943	978573	109	47277											
C12orf4	57102	broad.mit.edu	37	chr12	4599038	4599038	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggaagcatgttactaaGttgataaaacatttcttcag	13	13	9	6	0	2	1	1	1	1	0	2	2	2	2	0	2	3	3	0	2	5	6			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:4599038G>C	ENST00000261250.3	-	14	1681	c.1594C>G	c.(1594-1596)Ctt>Gtt	p.L532V	C12orf4_ENST00000545746.1_Missense_Mutation_p.L532V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	532										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATGTTACTAAGTTGATAAAAC	0.313													30	35					0	0	0	0	C	4599038	G	C	4599038	3	2	265	1	0	0	0	0	1	0	0	0	1697	1029	36	4	68	4	C12orf4	12	4599038	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08		4599038	129252857	110	47278											
CD9	928	broad.mit.edu	37	chr12	6342628	6342628	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgaaatagctgcggccatCtggggatattcccacaagga	12	9	11	9	1	1	1	0	1	1	0	2	3	2	3	2	4	2	1	2	4	4	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:6342628C>G	ENST00000382518.1	+	5	760	c.324C>G	c.(322-324)atC>atG	p.I108M	CD9_ENST00000382515.2_Missense_Mutation_p.I39M|CD9_ENST00000481267.1_3'UTR|CD9_ENST00000009180.4_Missense_Mutation_p.I108M			P21926	CD9_HUMAN	CD9 molecule	108					cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						CTGCGGCCATCTGGGGATATT	0.557													29	38					0	0	0	0	G	6342628	C	G	6342628	3	3	265	1	0	0	0	0	1	0	0	0	3075	903	32	2	338	2	CD9	12	6342628	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	1743590	6342628	127509267	111	47279											
PZP	5858	broad.mit.edu	37	chr12	9313713	9313713	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcagacacattagcacCtttagaaacagacagcccat	14	8	6	13	0	1	3	1	0	0	3	1	3	1	3	2	0	4	2	2	0	3	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:9313713C>T	ENST00000261336.2	-	23	2817		c.e23-1		PZP_ENST00000539983.1_Splice_Site|PZP_ENST00000381997.2_Splice_Site	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACATTAGCACCTTTAGAAACA	0.423													7	57					0	0	0	0	T	9313713	C	T	9313713	5	4	265	1	0	0	0	0	0	0	1	0	12951	695	24	4	1716	4	PZP	12	9313713	Splice_Site	SNP	C	TCGA-CV-6954-01A-11D-1912-08	2971085	9313713	124538182	112	47280											
METAP2	10988	broad.mit.edu	37	chr12	95887871	95887871	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actacaagtgaagaaaagaaAgcattagatcaggcaagtga	20	6	10	5	0	1	5	1	2	0	3	1	5	1	5	0	1	2	2	0	1	8	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:95887871A>G	ENST00000323666.5	+	5	697	c.468A>G	c.(466-468)aaA>aaG	p.K156K	METAP2_ENST00000546753.1_Silent_p.K133K|METAP2_ENST00000550777.1_Silent_p.K120K|METAP2_ENST00000261220.9_Silent_p.K133K|METAP2_ENST00000551840.1_Silent_p.K155K	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	156					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AAGAAAAGAAAGCATTAGATC	0.403													3	54					0	0	0	0	G	95887871	A	G	95887871	2	3	265	1	0	0	0	0	0	0	0	1	9556	69	3	5		5	METAP2	12	95887871	Silent	SNP	A	TCGA-CV-6954-01A-11D-1912-08	86574158	95887871	37964024	113	47281											
APAF1	317	broad.mit.edu	37	chr12	99042256	99042256	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttaacaatatcagaagAggaaaaagtaagaaatgagg	21	9	9	2	0	1	4	1	1	0	3	1	5	1	5	0	2	1	1	0	2	8	5			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:99042256A>T	ENST00000357310.1	+	2	696	c.119A>T	c.(118-120)gAg>gTg	p.E40V	APAF1_ENST00000359972.2_Missense_Mutation_p.E40V|APAF1_ENST00000547743.1_Missense_Mutation_p.E40V|APAF1_ENST00000547045.1_Missense_Mutation_p.E40V|APAF1_ENST00000551964.1_Missense_Mutation_p.E40V|APAF1_ENST00000339433.3_Missense_Mutation_p.E40V|APAF1_ENST00000552268.1_Missense_Mutation_p.E40V|APAF1_ENST00000550527.1_Missense_Mutation_p.E40V|APAF1_ENST00000549007.1_Missense_Mutation_p.E40V|APAF1_ENST00000333991.1_Missense_Mutation_p.E40V	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	40	CARD.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATATCAGAAGAGGAAAAAGTA	0.348													4	112					0	0	0	0	T	99042256	A	T	99042256	3	4	265	1	0	0	0	0	1	0	0	0	756	304	11	5	121	5	APAF1	12	99042256	Missense_Mutation	SNP	A	TCGA-CV-6954-01A-11D-1912-08	3154385	99042256	34809639	114	47282											
UTP20	27340	broad.mit.edu	37	chr12	101732715	101732715	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatagagcacaagtcagtaaAgagcttggcattctttcaaa	16	10	8	7	0	3	2	2	0	1	2	3	2	3	2	0	1	2	4	0	1	6	5			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:101732715A>G	ENST00000261637.4	+	31	4167	c.3993A>G	c.(3991-3993)aaA>aaG	p.K1331K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1331					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAGTCAGTAAAGAGCTTGGCA	0.328													19	36					0	0	0	0	G	101732715	A	G	101732715	2	3	265	1	0	0	0	0	0	0	0	1	17195	69	3	5		5	UTP20	12	101732715	Silent	SNP	A	TCGA-CV-6954-01A-11D-1912-08	2690459	101732715	32119180	115	47283											
C12orf52	84934	broad.mit.edu	37	chr12	113629453	113629453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccagcactggtcatccagCcaccagtgccccccacacaa	10	4	6	21	0	1	0	1	0	0	0	2	0	2	0	8	1	3	1	8	1	1	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:113629453C>G	ENST00000548278.1	+	4	1333	c.641C>G	c.(640-642)gCc>gGc	p.A214G	C12orf52_ENST00000552495.1_Missense_Mutation_p.A238G|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Missense_Mutation_p.A214G	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	214	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GGTCATCCAGCCACCAGTGCC	0.602													3	62					0	0	0	0	G	113629453	C	G	113629453	3	3	265	1	0	0	0	0	1	0	0	0	1709	739	26	4	647	4	C12orf52	12	113629453	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	11896738	113629453	20222442	116	47284											
TMEM120B	144404	broad.mit.edu	37	chr12	122213541	122213541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtactggcgttcaccttcctCatcctcttcctcggcaactt	5	14	6	16	2	3	0	2	0	1	0	7	0	6	0	4	2	2	3	4	2	2	5			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:122213541C>T	ENST00000540377.1	+	6	439	c.43C>T	c.(43-45)Cat>Tat	p.H15Y	TMEM120B_ENST00000449592.2_Silent_p.L311L			A0PK00	T120B_HUMAN	transmembrane protein 120B	0						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCACCTTCCTCATCCTCTTCC	0.612											OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	60					0	0	0	0	T	122213541	C	T	122213541	3	4	265	1	0	0	0	0	1	0	0	0	16128	813	29	2	979	2	TMEM120B	12	122213541	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	8584088	122213541	11638354	117	47285											
DCLK1	9201	broad.mit.edu	37	chr13	36382386	36382386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatcggaaacattatccCagtatggagaaggaaagtcc	16	7	10	8	1	0	2	0	0	0	2	3	5	2	4	2	3	1	1	2	3	6	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr13:36382386C>A	ENST00000255448.4	-	14	2049	c.1838G>T	c.(1837-1839)tGg>tTg	p.W613L	DCLK1_ENST00000379893.1_Missense_Mutation_p.W306L|DCLK1_ENST00000360631.3_Missense_Mutation_p.W613L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	613	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AACATTATCCCAGTATGGAGA	0.428													6	139					8.12818e-05	9.52273e-05	1	0	A	36382386	C	A	36382386	3	1	265	1	0	0	0	0	1	0	0	0	4323	595	21	4	371	4	DCLK1	13	36382386	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08		36382386	78787492	118	47286											
RBM26	64062	broad.mit.edu	37	chr13	79896555	79896555	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactggtttattccatgccaGttttagatcttgccctttga	7	18	7	9	0	1	2	0	1	1	1	2	2	2	2	3	1	3	2	3	1	3	8			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr13:79896555G>C	ENST00000438737.2	-	21	3303	c.2863C>G	c.(2863-2865)Ctg>Gtg	p.L955V	RBM26_ENST00000267229.7_Missense_Mutation_p.L928V|RBM26_ENST00000438724.1_Missense_Mutation_p.L931V			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	955	RRM 2.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTCCATGCCAGTTTTAGATCT	0.299													21	17					0	0	0	0	C	79896555	G	C	79896555	3	2	265	1	0	0	0	0	1	0	0	0	13208	1020	36	4	168	4	RBM26	13	79896555	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	43514169	79896555	35273323	119	47287											
PRKD1	5587	broad.mit.edu	37	chr14	30046531	30046531	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctagcacttggattgatCaggtgtgtggggtactgcag	7	12	16	6	0	1	1	1	1	0	0	1	2	1	2	0	5	3	4	0	5	2	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:30046531C>A	ENST00000331968.5	-	18	2881	c.2652G>T	c.(2650-2652)ctG>ctT	p.L884L	PRKD1_ENST00000415220.2_Silent_p.L892L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	884					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTGGATTGATCAGGTGTGTGG	0.527													34	101					1.22384e-17	1.60712e-17	1	0	A	30046531	C	A	30046531	2	1	265	1	0	0	0	0	0	0	0	1	12598	813	29	2		2	PRKD1	14	30046531	Silent	SNP	C	TCGA-CV-6954-01A-11D-1912-08		30046531	77303009	120	47288											
ZFYVE26	23503	broad.mit.edu	37	chr14	68272336	68272336	+	Splice_Site	SNP	C	C	A																															aacaatgttagtgctgttacCtgtaagtcaaagaaagctgt																										TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:68272336C>A	ENST00000347230.4	-	7	1156		c.e7-1		ZFYVE26_ENST00000555452.1_Splice_Site	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26						cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTGCTGTTACCTGTAAGTCAA	0.433													7	54					2.0095e-06	2.45036e-06	1	0	A	68272336	C	A	68272336	5	1	265	1	0	0	0	0	0	0	1	0	17763	695	24	4	6746	4	ZFYVE26	14	68272336	Splice_Site	SNP	C	TCGA-CV-6954-01A-11D-1912-08	38225805	68272336	39077204	121	47289	357	2									
ZFYVE26	23503	broad.mit.edu	37	chr14	68272337	68272337	+	Splice_Site	SNP	T	T	C																															acaatgttagtgctgttaccTgtaagtcaaagaaagctgtt																										TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:68272337T>C	ENST00000347230.4	-	7	1156		c.e7-2		ZFYVE26_ENST00000555452.1_Splice_Site	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26						cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCTGTTACCTGTAAGTCAAA	0.428													7	54					0	0	0	0	C	68272337	T	C	68272337	5	2	265	1	0	0	0	0	0	0	1	0	17763	1594	55	5	6747	5	ZFYVE26	14	68272337	Splice_Site	SNP	T	TCGA-CV-6954-01A-11D-1912-08	1	68272337	39077203	122	47290	357	2									
DLST	1743	broad.mit.edu	37	chr14	75369021	75369021	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaggatcccagagtcctcctCctggatctttaggaggaacc	9	9	11	12	0	1	1	0	0	1	1	5	6	5	5	5	4	1	0	5	4	2	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:75369021C>G	ENST00000334220.4	+	15	1411	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	DLST_ENST00000334212.6_Silent_p.L364L	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	450					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	p.L450L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GAGTCCTCCTCCTGGATCTTT	0.547													15	56					0	0	0	0	G	75369021	C	G	75369021	2	3	265	1	0	0	0	0	0	0	0	1	4606	842	30	2		2	DLST	14	75369021	Silent	SNP	C	TCGA-CV-6954-01A-11D-1912-08	7096684	75369021	31980519	123	47291											
SERPINA5	5104	broad.mit.edu	37	chr14	95058474	95058474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggacaatattcactttcagGtcggcccgcctgaactctca	9	10	9	13	2	3	1	3	1	1	0	5	2	3	2	2	3	1	0	2	3	3	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:95058474G>T	ENST00000329597.7	+	6	1329	c.1119G>T	c.(1117-1119)agG>agT	p.R373S	SERPINA5_ENST00000553780.1_Missense_Mutation_p.R373S|SERPINA3_ENST00000553947.1_Splice_Site|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R373S|SERPINA5_ENST00000554866.1_Missense_Mutation_p.R373S	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	373		Reactive bond.			fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCACTTTCAGGTCGGCCCGCC	0.562													9	442					0.000274275	0.000316675	1	0	T	95058474	G	T	95058474	3	4	265	1	0	0	0	0	1	0	0	0	14179	1252	44	4	1133	4	SERPINA5	14	95058474	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	19689453	95058474	12291066	124	47292											
PPP2R5C	5527	broad.mit.edu	37	chr14	102384193	102384193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgtatagtcaagccagcaCcatgagcattccggttgcaa	12	9	10	10	1	1	1	1	1	0	0	2	1	2	1	3	1	4	5	3	1	4	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:102384193C>T	ENST00000422945.2	+	15	1541	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I	PPP2R5C_ENST00000328724.5_Intron|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.T451I|PPP2R5C_ENST00000350249.3_Intron	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	451					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAAGCCAGCACCATGAGCATT	0.502													45	108					0	0	0	0	T	102384193	C	T	102384193	3	4	265	1	0	0	0	0	1	0	0	0	12470	507	18	4	1795	4	PPP2R5C	14	102384193	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	7325719	102384193	4965347	125	47293											
HSP90AA1	3320	broad.mit.edu	37	chr14	102552329	102552329	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgatcaagtcagccttggTcattccaattccagtatcca	11	13	6	11	0	3	1	3	1	0	0	6	1	6	1	4	1	1	1	4	1	3	5			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:102552329T>C	ENST00000334701.7	-	4	942	c.661A>G	c.(661-663)Acc>Gcc	p.T221A	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.T99A	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	99					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCAGCCTTGGTCATTCCAATT	0.433													4	85					0	0	0	0	C	102552329	T	C	102552329	3	2	265	1	0	0	0	0	1	0	0	0	7453	1667	58	5	1939	5	HSP90AA1	14	102552329	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	168136	102552329	4797211	126	47294											
BAHD1	22893	broad.mit.edu	37	chr15	40756083	40756083	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccggagccagccatccgAaagagctaccaggcggtaga	12	3	14	12	3	0	2	0	0	0	2	1	5	1	3	5	3	5	2	5	3	3	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:40756083A>G	ENST00000561234.1	+	4	2095	c.1836A>G	c.(1834-1836)cgA>cgG	p.R612R	BAHD1_ENST00000416165.1_Silent_p.R613R|BAHD1_ENST00000560846.1_Silent_p.R613R			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	613					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CAGCCATCCGAAAGAGCTACC	0.552													7	14					0	0	0	0	G	40756083	A	G	40756083	2	3	265	1	0	0	0	0	0	0	0	1	1301	233	9	5		5	BAHD1	15	40756083	Silent	SNP	A	TCGA-CV-6954-01A-11D-1912-08		40756083	61775309	127	47295											
RPAP1	26015	broad.mit.edu	37	chr15	41814044	41814044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggccataccatgatagaggGcagcatgggtggctggcagt	10	7	16	8	0	0	2	0	1	0	1	0	2	0	2	2	5	2	4	2	5	2	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:41814044G>C	ENST00000304330.4	-	21	3046	c.2930C>G	c.(2929-2931)gCc>gGc	p.A977G	RPAP1_ENST00000561603.1_Missense_Mutation_p.A977G	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	977	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATGATAGAGGGCAGCATGGGT	0.602													3	26					0	0	0	0	C	41814044	G	C	41814044	3	2	265	1	0	0	0	0	1	0	0	0	13626	1203	42	4	1271	4	RPAP1	15	41814044	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	1057961	41814044	60717348	128	47296											
MAP1A	4130	broad.mit.edu	37	chr15	43819557	43819557	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccacaccctatcctgatgaGagaagctttcagtatgcaga	12	9	8	12	0	1	4	1	2	0	2	2	5	2	4	3	0	2	3	3	0	3	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:43819557G>C	ENST00000382031.1	+	5	6631	c.6600G>C	c.(6598-6600)gaG>gaC	p.E2200D	MAP1A_ENST00000300231.5_Missense_Mutation_p.E1962D|MAP1A_ENST00000399453.1_Missense_Mutation_p.E1962D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1962						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATCCTGATGAGAGAAGCTTTC	0.562													24	62					0	0	0	0	C	43819557	G	C	43819557	3	2	265	1	0	0	0	0	1	0	0	0	9296	933	33	2	5888	2	MAP1A	15	43819557	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	2005513	43819557	58711835	129	47297											
SLC12A1	6557	broad.mit.edu	37	chr15	48500299	48500299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgggcccaaggtcaaccGacccagcctgcttgagattc	9	7	11	14	1	1	1	1	1	0	1	2	3	1	1	4	2	3	1	4	2	2	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:48500299G>A	ENST00000396577.3	+	2	598	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	SLC12A1_ENST00000561031.1_Missense_Mutation_p.R128Q|SLC12A1_ENST00000380993.3_Missense_Mutation_p.R128Q|SLC12A1_ENST00000330289.6_Missense_Mutation_p.R128Q|SLC12A1_ENST00000558405.1_Missense_Mutation_p.R128Q	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	128					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAGGTCAACCGACCCAGCCTG	0.473													13	48					0	0	0	0	A	48500299	G	A	48500299	3	1	265	1	0	0	0	0	1	0	0	0	14470	1058	37	1	385	1	SLC12A1	15	48500299	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	4680742	48500299	54031093	130	47298											
WDR72	256764	broad.mit.edu	37	chr15	53998227	53998227	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaccttgtaaaaaggctcTttcctttcattcatgtagcc	10	15	6	10	0	3	0	2	0	1	0	4	0	4	0	3	1	2	4	3	1	5	7			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:53998227T>C	ENST00000396328.1	-	10	1238	c.999A>G	c.(997-999)aaA>aaG	p.K333K	WDR72_ENST00000559418.1_Silent_p.K343K|WDR72_ENST00000557913.1_Silent_p.K330K|WDR72_ENST00000360509.5_Silent_p.K333K	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	333										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAAAAGGCTCTTTCCTTTCAT	0.403													4	31					0	0	0	0	C	53998227	T	C	53998227	2	2	265	1	0	0	0	0	0	0	0	1	17418	1606	56	5		5	WDR72	15	53998227	Silent	SNP	T	TCGA-CV-6954-01A-11D-1912-08	5497928	53998227	48533165	131	47299											
TIPIN	54962	broad.mit.edu	37	chr15	66645273	66645273	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatcacgccattctcctGtggttctagcatcttttcct	6	16	6	13	1	5	0	2	0	3	0	7	0	6	0	3	1	1	2	3	1	2	5			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:66645273G>A	ENST00000261881.4	-	2	98	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	TIPIN_ENST00000367709.4_5'UTR	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	5					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						CCATTCTCCTGTGGTTCTAGC	0.413													11	46					0	0	0	0	A	66645273	G	A	66645273	4	1	265	1	0	0	0	0	0	1	0	0	16019	1386	48	4	920	4	TIPIN	15	66645273	Nonsense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	12647046	66645273	35886119	132	47300											
ARNT2	9915	broad.mit.edu	37	chr15	80762647	80762647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatggtccccacatgcagcGcactggctcggaagccagac	10	5	11	15	2	0	1	0	0	0	1	2	2	1	2	3	3	3	3	3	3	1	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:80762647G>T	ENST00000533983.1	+	5	589	c.250G>T	c.(250-252)Gca>Tca	p.A84S	ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000303329.4_Missense_Mutation_p.A95S|ARNT2_ENST00000527771.1_Missense_Mutation_p.A84S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	95	Helix-loop-helix motif.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CACATGCAGCGCACTGGCTCG	0.552													13	31					1.36491e-13	1.7729e-13	1	0	T	80762647	G	T	80762647	3	4	265	1	0	0	0	0	1	0	0	0	970	1087	38	3	297	3	ARNT2	15	80762647	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	14117374	80762647	21768745	133	47301											
ARNT2	9915	broad.mit.edu	37	chr15	80872870	80872870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtggcatggacagggagtCgtccgccctttccgggacag	7	7	16	11	3	0	0	0	0	0	0	3	3	2	3	3	5	0	1	3	5	0	1	rs144530385		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:80872870C>T	ENST00000533983.1	+	17	2038	c.1699C>T	c.(1699-1701)Cgt>Tgt	p.R567C	RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000303329.4_Missense_Mutation_p.R578C|ARNT2_ENST00000527771.1_Missense_Mutation_p.R567C			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	578					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GACAGGGAGTCGTCCGCCCTT	0.567													15	39					0	0	0	0	T	80872870	C	T	80872870	3	4	265	1	0	0	0	0	1	0	0	0	970	884	31	1	1794	1	ARNT2	15	80872870	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	110223	80872870	21658522	134	47302											
MAN2A2	4122	broad.mit.edu	37	chr15	91447520	91447520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctctacctcatgctggaccGagtgcaacacgatcccaccc	9	7	8	17	2	2	0	1	0	1	0	3	3	3	1	4	1	4	3	4	1	2	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:91447520G>A	ENST00000360468.3	+	1	101	c.83G>A	c.(82-84)cGa>cAa	p.R28Q	MAN2A2_ENST00000559717.1_Missense_Mutation_p.R28Q	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	28					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGCTGGACCGAGTGCAACAC	0.547													23	76					0	0	0	0	A	91447520	G	A	91447520	3	1	265	1	0	0	0	0	1	0	0	0	9284	1058	37	1	85	1	MAN2A2	15	91447520	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	10574650	91447520	11083872	135	47303											
CACNA1H	8912	broad.mit.edu	37	chr16	1262016	1262016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcgtcagcttcttcgTgctcaacatgttcgtgggcg	5	13	11	12	4	4	0	3	0	1	0	7	0	4	0	0	1	3	4	0	1	1	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:1262016T>C	ENST00000348261.5	+	25	4885	c.4637T>C	c.(4636-4638)gTg>gCg	p.V1546A	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1546A|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1546A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1546					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGCTTCTTCGTGCTCAACATG	0.642													98	175					0	0	0	0	C	1262016	T	C	1262016	3	2	265	1	0	0	0	0	1	0	0	0	2570	1696	59	5	4731	5	CACNA1H	16	1262016	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08		1262016	89092737	136	47304											
UMOD	7369	broad.mit.edu	37	chr16	20347992	20347992	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtgatgggacccaagtTcaggacacgggattgatcta	10	9	13	9	2	2	2	1	2	1	0	2	5	2	5	2	3	0	1	2	3	2	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:20347992T>C	ENST00000396134.2	-	10	2020	c.1897A>G	c.(1897-1899)Aac>Gac	p.N633D	UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000570689.1_Missense_Mutation_p.N600D|UMOD_ENST00000302509.4_Missense_Mutation_p.N600D|UMOD_ENST00000424589.1_Missense_Mutation_p.N633D|UMOD_ENST00000396142.2_Missense_Mutation_p.N600D|UMOD_ENST00000396138.4_Missense_Mutation_p.N649D	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	600					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGACCCAAGTTCAGGACACGG	0.527													6	47					0	0	0	0	C	20347992	T	C	20347992	3	2	265	1	0	0	0	0	1	0	0	0	17075	1783	62	5	136	5	UMOD	16	20347992	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	19085976	20347992	70006761	137	47305											
TNRC6A	27327	broad.mit.edu	37	chr16	24802394	24802394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaagatgattctgctgctAcaggaatggtcaagagcaat	13	9	13	6	0	2	3	1	1	1	2	2	5	2	5	0	3	4	3	0	3	5	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:24802394A>G	ENST00000395799.3	+	6	2560	c.2431A>G	c.(2431-2433)Aca>Gca	p.T811A	TNRC6A_ENST00000315183.7_Missense_Mutation_p.T811A	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	811	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCTGCTGCTACAGGAATGGT	0.517													9	29					0	0	0	0	G	24802394	A	G	24802394	3	3	265	1	0	0	0	0	1	0	0	0	16434	391	14	5	2453	5	TNRC6A	16	24802394	Missense_Mutation	SNP	A	TCGA-CV-6954-01A-11D-1912-08	4454402	24802394	65552359	138	47306											
NOD2	64127	broad.mit.edu	37	chr16	50733835	50733835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtatgaatgtgatgaaatCaggttgccgatcttcacacc	12	11	9	9	1	3	3	2	3	1	0	3	4	3	3	2	1	1	2	2	1	3	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:50733835C>T	ENST00000300589.2	+	2	615	c.510C>T	c.(508-510)atC>atT	p.I170I	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	170	CARD 2.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GTGATGAAATCAGGTTGCCGA	0.552													19	41					0	0	0	0	T	50733835	C	T	50733835	2	4	265	1	0	0	0	0	0	0	0	1	10587	816	29	2		2	NOD2	16	50733835	Silent	SNP	C	TCGA-CV-6954-01A-11D-1912-08	25931441	50733835	39620918	139	47307											
RANBP10	57610	broad.mit.edu	37	chr16	67778258	67778258	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacacagcagccgatcacGtctcctgtggtgaatgtggg	8	10	13	10	2	2	2	1	2	1	0	3	3	2	2	2	2	2	1	2	2	1	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:67778258G>A	ENST00000536251.1	-	0	974				RANBP10_ENST00000317506.3_Silent_p.D167D|RANBP10_ENST00000448631.2_Intron|RANBP10_ENST00000411657.2_Silent_p.D50D|RANBP10_ENST00000602677.1_Silent_p.D167D|RANBP10_ENST00000425512.2_Silent_p.D35D|RANBP10_ENST00000602887.1_5'UTR			Q6VN20	RBP10_HUMAN	RAN binding protein 10											endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AGCCGATCACGTCTCCTGTGG	0.547													19	79					0	0	0	0	A	67778258	G	A	67778258	1	1	265	1	0	0	0	0	0	0	0	0	13108	1136	40	1		1	RANBP10	16	67778258	Translation_Start_Site	SNP	G	TCGA-CV-6954-01A-11D-1912-08	17044423	67778258	22576495	140	47308											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67860602	67860602	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatcccgcagaaagagaCgttcccagatttcttcttca	10	11	7	13	3	3	3	1	0	2	3	6	5	5	3	2	0	0	2	2	0	1	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:67860602C>A	ENST00000388833.3	+	12	1624	c.1247C>A	c.(1246-1248)aCg>aAg	p.T416K	TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.T401K|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.T470K	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	416					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CAGAAAGAGACGTTCCCAGAT	0.493													42	83					3.43241e-23	4.5323e-23	1	0	A	67860602	C	A	67860602	3	1	265	1	0	0	0	0	1	0	0	0	16727	536	19	3	1285	3	TSNAXIP1	16	67860602	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	82344	67860602	22494151	141	47309											
COG4	25839	broad.mit.edu	37	chr16	70548314	70548314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagtatgtgctgcagcctgCtcataatcttcactcctcaa	9	13	7	12	0	4	1	3	1	1	0	5	1	5	1	2	0	4	4	2	0	3	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:70548314C>A	ENST00000323786.5	-	4	489	c.468G>T	c.(466-468)gaG>gaT	p.E156D	COG4_ENST00000393612.4_Missense_Mutation_p.E152D|COG4_ENST00000564653.1_Missense_Mutation_p.E156D	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	152					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CTGCAGCCTGCTCATAATCTT	0.507													11	50					3.07112e-06	3.72587e-06	1	0	A	70548314	C	A	70548314	3	1	265	1	0	0	0	0	1	0	0	0	3690	796	28	4	1965	4	COG4	16	70548314	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	2687712	70548314	19806439	142	47310											
HP	3240	broad.mit.edu	37	chr16	72094609	72094609	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggcatgtctaagtaccaAgaagacacctgctatggcga	12	8	11	10	1	1	2	0	0	1	2	1	3	1	2	2	2	2	4	2	2	5	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:72094609A>G	ENST00000355906.5	+	7	1099	c.1041A>G	c.(1039-1041)caA>caG	p.Q347Q	HP_ENST00000570083.1_Silent_p.Q288Q|HP_ENST00000562526.1_3'UTR|HP_ENST00000398131.2_Silent_p.Q288Q|HPR_ENST00000356967.5_Intron|HP_ENST00000565574.1_Silent_p.Q288Q	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	347	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CTAAGTACCAAGAAGACACCT	0.537													8	115					0	0	0	0	G	72094609	A	G	72094609	2	3	265	1	0	0	0	0	0	0	0	1	7377	69	3	5		5	HP	16	72094609	Silent	SNP	A	TCGA-CV-6954-01A-11D-1912-08	1546295	72094609	18260144	143	47311											
TUBB3	10381	broad.mit.edu	37	chr16	90001910	90001910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatccccaacaacgtgaagGtggccgtgtgtgacatcccg	9	7	13	12	3	0	2	0	2	0	0	2	3	2	3	4	3	2	0	4	3	3	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:90001910G>T	ENST00000304984.5	+	3	3130	c.835G>T	c.(835-837)Gtg>Ttg	p.V279L	TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Missense_Mutation_p.V279L|TUBB3_ENST00000556922.1_Missense_Mutation_p.V698L|TUBB3_ENST00000315491.7_Missense_Mutation_p.V351L			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	351					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CAACGTGAAGGTGGCCGTGTG	0.612													15	250					0.000308642	0.000354641	1	0	T	90001910	G	T	90001910	3	4	265	1	0	0	0	0	1	0	0	0	16853	1261	44	4	1065	4	TUBB3	16	90001910	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	17907301	90001910	352843	144	47312											
YWHAE	7531	broad.mit.edu	37	chr17	1268247	1268247	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattattctccaggaggctCttctagctccaatcacattc	9	14	6	12	0	4	1	1	1	3	0	7	2	5	2	2	2	1	2	2	2	3	5			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:1268247C>A	ENST00000264335.8	-	2	437	c.170G>T	c.(169-171)aGa>aTa	p.R57I	YWHAE_ENST00000575977.1_Missense_Mutation_p.R57I|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.R35I	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide	57		Interaction with phosphoserine on interacting protein.			apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CCAGGAGGCTCTTCTAGCTCC	0.423			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						5	142					3.59834e-05	4.25744e-05	1	0	A	1268247	C	A	1268247	3	1	265	1	0	0	0	0	1	0	0	0	17598	913	32	2	617	2	YWHAE	17	1268247	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08		1268247	79926963	145	47313											
MYH1	4619	broad.mit.edu	37	chr17	10395815	10395815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactcagcaatgtcagccCgttcctcggcctcctccagc	6	8	10	17	2	2	0	2	0	0	0	6	1	5	1	5	2	3	2	5	2	1	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:10395815C>T	ENST00000226207.5	-	40	5832	c.5738G>A	c.(5737-5739)cGg>cAg	p.R1913Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1913						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AATGTCAGCCCGTTCCTCGGC	0.483													4	165					0	0	0	0	T	10395815	C	T	10395815	3	4	265	1	0	0	0	0	1	0	0	0	10099	652	23	1	85	1	MYH1	17	10395815	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	9127568	10395815	70799395	146	47314											
GOSR1	9527	broad.mit.edu	37	chr17	28849344	28849344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgggactcgctcatcctagGgggtgttattgggatctgta	6	12	15	8	2	2	0	1	0	1	0	4	2	3	2	1	4	0	3	1	4	3	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:28849344G>A	ENST00000225724.5	+	9	773	c.701G>A	c.(700-702)gGg>gAg	p.G234E	GOSR1_ENST00000581721.1_Missense_Mutation_p.G220E|GOSR1_ENST00000467337.2_Missense_Mutation_p.G169E|GOSR1_ENST00000451249.2_Missense_Mutation_p.G232E	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	234					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CTCATCCTAGGGGGTGTTATT	0.498													8	395					0	0	0	0	A	28849344	G	A	28849344	3	1	265	1	0	0	0	0	1	0	0	0	6625	1232	43	4	735	4	GOSR1	17	28849344	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	18453529	28849344	52345866	147	47315											
CCL23	6368	broad.mit.edu	37	chr17	34341417	34341417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggaagctttgacatcatGaactctgtctctgcatctgg	10	13	9	9	0	4	2	1	2	3	0	5	3	4	3	0	2	3	2	0	2	3	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:34341417G>T	ENST00000293280.2	-	2	163	c.93C>A	c.(91-93)ttC>ttA	p.F31L	CCL23_ENST00000591423.1_Missense_Mutation_p.F31L	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	31				MLVTALGSQARVTKDAETEFMMSKLPLENPVLL -> HAFL LPLVPGPGHKRCRDRVHECQSFHWKIQYFW (in Ref. 1).	cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	TTGACATCATGAACTCTGTCT	0.483													9	30					3.09899e-07	3.85759e-07	1	0	T	34341417	G	T	34341417	3	4	265	1	0	0	0	0	1	0	0	0	2922	1281	45	2	332	2	CCL23	17	34341417	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	5492073	34341417	46853793	148	47316											
MLLT6	4302	broad.mit.edu	37	chr17	36868952	36868952	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccctctccagagtcgaaaGgacaaagaacgccttaagca	14	6	8	13	2	1	2	0	0	1	2	4	4	2	3	3	1	2	1	3	1	4	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:36868952G>A	ENST00000325718.7	+	8	820	c.729G>A	c.(727-729)aaG>aaA	p.K243K	MLLT6_ENST00000378137.5_Silent_p.K243K	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	243					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGAGTCGAAAGGACAAAGAAC	0.592			T	MLL	AL								4	80					0	0	0	0	A	36868952	G	A	36868952	2	1	265	1	0	0	0	0	0	0	0	1	9699	991	35	4		4	MLLT6	17	36868952	Silent	SNP	G	TCGA-CV-6954-01A-11D-1912-08	2527535	36868952	44326258	149	47317											
KRTAP4-12	83755	broad.mit.edu	37	chr17	39280340	39280340	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggccacagccctggTcagagcacacagagccacaa	12	4	9	16	0	2	2	1	0	1	2	3	2	2	2	4	2	3	1	4	2	1	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:39280340T>C	ENST00000394014.1	-	1	79	c.35A>G	c.(34-36)gAc>gGc	p.D12G		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	12	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACAGCCCTGGTCAGAGCACAC	0.617													23	108					0	0	0	0	C	39280340	T	C	39280340	3	2	265	1	0	0	0	0	1	0	0	0	8603	1667	58	5	574	5	KRTAP4-12	17	39280340	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	2411388	39280340	41914870	150	47318											
CDK5RAP3	80279	broad.mit.edu	37	chr17	46053298	46053298	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggggaaactcaacggtgtaCgagtggaggacagggacaga	13	4	17	7	3	1	1	1	0	0	1	1	6	1	5	0	6	3	1	0	6	3	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:46053298C>T	ENST00000536708.2	+	8	901	c.792C>T	c.(790-792)taC>taT	p.Y264Y	CDK5RAP3_ENST00000338399.4_Silent_p.Y239Y	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	239					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CAACGGTGTACGAGTGGAGGA	0.587													5	56					0	0	0	0	T	46053298	C	T	46053298	2	4	265	1	0	0	0	0	0	0	0	1	3176	547	19	1		1	CDK5RAP3	17	46053298	Silent	SNP	C	TCGA-CV-6954-01A-11D-1912-08	6772958	46053298	35141912	151	47319											
TCEB3CL	728929	broad.mit.edu	37	chr18	44549224	44549224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggttcaagaaccgagtaggGgaccccttccacgtcgccga	9	6	13	13	4	1	1	1	0	0	1	3	4	2	2	5	3	1	2	5	3	3	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr18:44549224G>A	ENST00000451265.1	-	1	1310	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						ACCGAGTAGGGGACCCCTTCC	0.637													15	841					0	0	0	0	A	44549224	G	A	44549224	3	1	265	1	0	0	0	0	1	0	0	0	15778	1232	43	4	2212	4	TCEB3CL	18	44549224	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08		44549224	33528024	152	47320											
SERPINB11	89778	broad.mit.edu	37	chr18	61390542	61390542	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaagcctaccaatgagagCtcagttcaaggcgaaccacc	16	5	8	12	1	2	1	2	1	0	1	2	3	2	1	4	1	4	2	4	1	6	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr18:61390542C>T	ENST00000544088.1	+	0	1150				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CCAATGAGAGCTCAGTTCAAG	0.517													29	66					0	0	0	0	T	61390542	C	T	61390542	1	4	265	0	1	0	0	0	0	0	0	0	14185	797	28	4		4	SERPINB11	18	61390542	RNA	SNP	C	TCGA-CV-6954-01A-11D-1912-08	16841318	61390542	16686706	153	47321											
TLE2	7089	broad.mit.edu	37	chr19	3011066	3011066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggcagcaagctggcagagGtgactggccgagctgggccc	7	6	17	11	1	0	2	0	1	0	1	0	3	0	2	2	5	3	5	2	5	1	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	22ae0052-7db3-4a7b-94ca-a65511e894d5	g.chr19:3011066G>A	ENST00000447365.2	-	8	1182	c.92C>T	c.(91-93)aCc>aTc	p.T31I	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000426948.2_Silent_p.H336H|TLE2_ENST00000590536.1_Silent_p.H323H|TLE2_ENST00000455444.2_Silent_p.H200H|TLE2_ENST00000262953.6_Silent_p.H322H|TLE2_ENST00000443826.3_Silent_p.H200H|TLE2_ENST00000591529.1_Silent_p.H336H			Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	150	Gln-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GCTGGCAGAGGTGACTGGCCG	0.657													4	16					0	0	0	0	A	3011066	G	A	3011066	3	1	265	1	0	0	0	0	1	0	0	0	16033	1252	44	4	1301	4	TLE2	19	3011066	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08		3011066	56117917	154	47322											
EMR1	2015	broad.mit.edu	37	chr19	6926416	6926416	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgggcttcctgcactaccttTtccttgcctgcttcttctgg	2	16	8	15	1	2	0	0	0	2	0	4	0	4	0	4	2	4	3	4	2	1	7			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:6926416T>G	ENST00000312053.4	+	16	2063	c.2026T>G	c.(2026-2028)Ttc>Gtc	p.F676V	EMR1_ENST00000381407.5_Missense_Mutation_p.F535V|EMR1_ENST00000450315.3_Missense_Mutation_p.F499V|EMR1_ENST00000250572.8_Missense_Mutation_p.F611V|EMR1_ENST00000381404.4_Missense_Mutation_p.F624V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	676					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GCACTACCTTTTCCTTGCCTG	0.517													16	78					0	0	0	0	G	6926416	T	G	6926416	3	3	265	1	0	0	0	0	1	0	0	0	5142	1841	64	5	2088	5	EMR1	19	6926416	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	3915350	6926416	52202567	155	47323											
FCER2	2208	broad.mit.edu	37	chr19	7754314	7754314	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggctcccctggagcccagTtgctggagcaaaaggctttg	7	9	14	11	0	0	0	0	0	0	0	1	2	1	2	3	4	3	5	3	4	2	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:7754314T>G	ENST00000346664.5	-	11	943	c.731A>C	c.(730-732)aAc>aCc	p.N244T	FCER2_ENST00000597921.1_Missense_Mutation_p.N244T|FCER2_ENST00000360067.4_Missense_Mutation_p.N243T	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	244	C-type lectin.				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TGGAGCCCAGTTGCTGGAGCA	0.667													2	7					0	0	0	0	G	7754314	T	G	7754314	3	3	265	1	0	0	0	0	1	0	0	0	5821	1725	60	5	238	5	FCER2	19	7754314	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	827898	7754314	51374669	156	47324											
CLEC4G	339390	broad.mit.edu	37	chr19	7794310	7794310	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgctgtcacacggtgcgTcgttccacagccccgtgtgc	4	10	11	16	5	2	0	1	0	1	0	5	0	3	0	3	1	3	2	3	1	0	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:7794310T>C	ENST00000328853.5	-	9	892	c.824A>G	c.(823-825)gAc>gGc	p.D275G		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	275	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						ACACGGTGCGTCGTTCCACAG	0.632													3	47					0	0	0	0	C	7794310	T	C	7794310	3	2	265	1	0	0	0	0	1	0	0	0	3547	1667	58	5	61	5	CLEC4G	19	7794310	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	39996	7794310	51334673	157	47325											
ARRDC2	27106	broad.mit.edu	37	chr19	18119198	18119198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgagcccgtgtttagcggcGgccaggccgtggcgggccgg	3	6	19	13	7	0	0	0	0	0	0	1	1	0	0	4	6	2	1	4	6	1	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:18119198G>A	ENST00000222250.4	+	1	222	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	ARRDC2_ENST00000379656.2_Intron|ARRDC2_ENST00000595712.1_Intron	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	27										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GTTTAGCGGCGGCCAGGCCGT	0.726													8	26					0	0	0	0	A	18119198	G	A	18119198	3	1	265	1	0	0	0	0	1	0	0	0	987	1116	39	1	344	1	ARRDC2	19	18119198	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	10324888	18119198	41009785	158	47326											
NUDT19	390916	broad.mit.edu	37	chr19	33200163	33200163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccacccccacagttctacGaagtgagaagacttgcaaac	13	7	8	13	1	1	2	0	1	1	2	1	4	1	2	3	0	4	2	3	0	4	3	rs149924778	by1000genomes	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:33200163G>A	ENST00000397061.3	+	2	787	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	263	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					ACAGTTCTACGAAGTGAGAAG	0.443													11	234					0	0	0	0	A	33200163	G	A	33200163	3	1	265	1	0	0	0	0	1	0	0	0	10807	1059	37	1	793	1	NUDT19	19	33200163	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	15080965	33200163	25928820	159	47327											
DYRK1B	9149	broad.mit.edu	37	chr19	40321138	40321140	+	In_Frame_Del	DEL	CTT	CTT	-																															tggttcaggaccttcttctcCttcttgttgctcgaatcctg																										TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:40321138_40321140delCTT	ENST00000593685.1	-	4	715_717	c.247_249delAAG	c.(247-249)del	p.K83del	DYRK1B_ENST00000430012.2_In_Frame_Del_p.K83del|DYRK1B_ENST00000323039.5_In_Frame_Del_p.K83del|DYRK1B_ENST00000348817.3_In_Frame_Del_p.K83del|DYRK1B_ENST00000601972.1_In_Frame_Del_p.K83del|DYRK1B_ENST00000597639.1_In_Frame_Del_p.K83del			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	83					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CCTTCTTCTCCTTCTTGTTGCTC	0.581													26	96	---	---	---	---					-	40321140	CTT	-	40321138	7	5	265	1	0	1	0	1	0	0	0	0	4891	680	24	0	1672	0	DYRK1B	19	40321138	In_Frame_Del	DEL	CTT	TCGA-CV-6954-01A-11D-1912-08	7120975	40321138	18807845	160	47328											
ATP1A3	478	broad.mit.edu	37	chr19	42471441	42471441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagtttgcggatttcgtcGtagacgaagatgaggaaact	12	11	13	5	4	0	4	0	2	0	2	2	7	0	6	0	2	2	2	0	2	3	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:42471441G>A	ENST00000545399.1	-	22	3165	c.3012C>T	c.(3010-3012)taC>taT	p.Y1004Y	ATP1A3_ENST00000602133.1_Silent_p.Y961Y|ATP1A3_ENST00000543770.1_Silent_p.Y1002Y|ATP1A3_ENST00000302102.5_Silent_p.Y991Y	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	991					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGATTTCGTCGTAGACGAAGA	0.652													22	29					0	0	0	0	A	42471441	G	A	42471441	2	1	265	1	0	0	0	0	0	0	0	1	1134	1140	40	1		1	ATP1A3	19	42471441	Silent	SNP	G	TCGA-CV-6954-01A-11D-1912-08	2150303	42471441	16657542	161	47329											
ARHGAP35	2909	broad.mit.edu	37	chr19	47423097	47423097	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgcttgaagagaccccatggGatgccaccagtcacattgac	11	8	10	12	0	1	3	1	2	0	1	1	5	1	4	4	1	2	1	4	1	1	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:47423097G>C	ENST00000404338.3	+	1	1165	c.1165G>C	c.(1165-1167)Gat>Cat	p.D389H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	389	FF 2.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GACCCCATGGGATGCCACCAG	0.448													29	97					0	0	0	0	C	47423097	G	C	47423097	3	2	265	1	0	0	0	0	1	0	0	0	6845	1174	41	2	1167	2	ARHGAP35	19	47423097	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	4951656	47423097	11705886	162	47330											
CACNG8	59283	broad.mit.edu	37	chr19	54466493	54466493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgccttcgccgccttcGgcctcatgaccatcgccatc	4	9	10	18	5	1	1	1	1	0	0	5	1	1	1	6	2	0	0	6	2	0	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:54466493G>A	ENST00000270458.2	+	1	200	c.97G>A	c.(97-99)Ggc>Agc	p.G33S		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	33					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGCCGCCTTCGGCCTCATGAC	0.667													9	23					0	0	0	0	A	54466493	G	A	54466493	3	1	265	1	0	0	0	0	1	0	0	0	2588	1116	39	1	99	1	CACNG8	19	54466493	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	7043396	54466493	4662490	163	47331											
ZNF446	55663	broad.mit.edu	37	chr19	58991738	58991738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccccaggaagccctacaCgtgcgagcagtgtggccgcg	8	4	13	16	4	0	0	0	0	0	0	0	2	0	1	4	2	4	1	4	2	2	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:58991738C>T	ENST00000596341.1	+	7	3065	c.845C>T	c.(844-846)aCg>aTg	p.T282M	ZNF446_ENST00000335841.4_Missense_Mutation_p.R305C|ZNF446_ENST00000594369.1_Missense_Mutation_p.T333M			Q9NWS9	ZN446_HUMAN	zinc finger protein 446	333	Pro-rich.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AAGCCCTACACGTGCGAGCAG	0.682													7	22					0	0	0	0	T	58991738	C	T	58991738	3	4	265	1	0	0	0	0	1	0	0	0	18014	536	19	1	1020	1	ZNF446	19	58991738	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	4525245	58991738	137245	164	47332											
NOP56	10528	broad.mit.edu	37	chr20	2636321	2636321	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttatctgaataccgccagAgcctacacacttacctgcgc	10	10	6	15	2	1	2	0	1	1	1	1	2	1	2	4	0	5	0	4	0	5	5			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:2636321A>G	ENST00000329276.5	+	7	1354	c.838A>G	c.(838-840)Agc>Ggc	p.S280G		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	280	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						ATACCGCCAGAGCCTACACAC	0.512													19	160					0	0	0	0	G	2636321	A	G	2636321	3	3	265	1	0	0	0	0	1	0	0	0	10609	304	11	5	864	5	NOP56	20	2636321	Missense_Mutation	SNP	A	TCGA-CV-6954-01A-11D-1912-08		2636321	60389199	165	47333											
CENPB	1059	broad.mit.edu	37	chr20	3766487	3766487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgacgcggccgtccgTcgcctccgcacagccccgcg	3	6	13	19	8	0	1	0	1	0	0	3	1	2	1	6	2	1	2	6	2	0	1			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:3766487T>C	ENST00000379751.4	-	1	850	c.644A>G	c.(643-645)gAc>gGc	p.D215G		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	215					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CGGCCGTCCGTCGCCTCCGCA	0.711													14	144					0	0	0	0	C	3766487	T	C	3766487	3	2	265	1	0	0	0	0	1	0	0	0	3256	1667	58	5	1159	5	CENPB	20	3766487	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	1130166	3766487	59259033	166	47334			1	70		2	2	15	N	T_C	8.185296e-05
CENPB	1059	broad.mit.edu	37	chr20	3766501	3766501	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtccgtcgcctccgcacagCcccgcggcctggtcgggcag	3	5	14	19	7	0	0	0	0	0	0	4	0	2	0	6	3	1	2	6	3	0	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:3766501C>A	ENST00000379751.4	-	1	836	c.630G>T	c.(628-630)ggG>ggT	p.G210G		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	210					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CTCCGCACAGCCCCGCGGCCT	0.711													19	143					2.4624e-09	3.11382e-09	1	0	A	3766501	C	A	3766501	2	1	265	1	0	0	0	0	0	0	0	1	3256	726	26	4		4	CENPB	20	3766501	Silent	SNP	C	TCGA-CV-6954-01A-11D-1912-08	14	3766501	59259019	167	47335			1	70		2	2	15	N	T_C	8.185296e-05
SNTA1	6640	broad.mit.edu	37	chr20	32026759	32026759	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggcatcccccacaaaaagGgcctctgtctggtcagctgc	9	8	10	14	0	3	0	1	0	2	0	4	0	4	0	3	3	2	2	3	3	2	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:32026759G>A	ENST00000217381.2	-	2	655	c.384C>T	c.(382-384)gcC>gcT	p.A128A		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	128	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CCACAAAAAGGGCCTCTGTCT	0.542													5	305					0	0	0	0	A	32026759	G	A	32026759	2	1	265	1	0	0	0	0	0	0	0	1	14959	1219	43	4		4	SNTA1	20	32026759	Silent	SNP	G	TCGA-CV-6954-01A-11D-1912-08	28260258	32026759	30998761	168	47336											
PTPRT	11122	broad.mit.edu	37	chr20	40710644	40710644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagaaggttccactacGgcctcccccatttctaaaca	11	8	7	15	1	1	1	0	0	1	1	3	1	3	1	4	3	2	2	4	3	4	4	rs144244064		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:40710644G>T	ENST00000373198.3	-	31	4451	c.4216C>A	c.(4216-4218)Cgt>Agt	p.R1406S	PTPRT_ENST00000373187.1_Missense_Mutation_p.R1384S|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1387S|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1374S|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1393S|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1394S|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1383S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1384	Tyrosine-protein phosphatase 2.				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	p.R1406C(2)		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)				GTTCCACTACGGCCTCCCCCA	0.483													5	171					5.9392e-07	7.31685e-07	1	0	T	40710644	G	T	40710644	3	4	265	1	0	0	0	0	1	0	0	0	12894	1116	39	3	183	3	PTPRT	20	40710644	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	8683885	40710644	22314876	169	47337											
SGK2	10110	broad.mit.edu	37	chr20	42195754	42195754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggccttcagccaaccCaaagtgagttctggtccctc	7	9	10	15	0	2	1	1	1	1	0	4	1	3	1	5	3	2	1	5	3	2	2	rs141029147		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:42195754C>T	ENST00000373100.1	+	4	543	c.83C>T	c.(82-84)cCa>cTa	p.P28L	SGK2_ENST00000341458.4_Missense_Mutation_p.P88L|SGK2_ENST00000426287.1_Missense_Mutation_p.P54L|SGK2_ENST00000423407.3_Missense_Mutation_p.P28L|SGK2_ENST00000373092.3_Missense_Mutation_p.P28L|SGK2_ENST00000373077.1_Missense_Mutation_p.P28L			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	88					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAGCCAACCCAAAGTGAGTT	0.512													4	76					0	0	0	0	T	42195754	C	T	42195754	3	4	265	1	0	0	0	0	1	0	0	0	14296	594	21	4	269	4	SGK2	20	42195754	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	1485110	42195754	20829766	170	47338											
WFDC3	140686	broad.mit.edu	37	chr20	44416545	44416545	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagcatttctttacaccTggacatgtctcatcagtgat	9	14	8	10	0	3	1	2	1	2	0	4	2	3	2	1	1	3	2	1	1	1	3			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:44416545T>C	ENST00000243938.4	-	4	371	c.288A>G	c.(286-288)ccA>ccG	p.P96P	WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372632.2_Intron|WFDC3_ENST00000372630.2_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	96	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				TCTTTACACCTGGACATGTCT	0.473													14	133					0	0	0	0	C	44416545	T	C	44416545	2	2	265	1	0	0	0	0	0	0	0	1	17449	1567	55	5		5	WFDC3	20	44416545	Silent	SNP	T	TCGA-CV-6954-01A-11D-1912-08	2220791	44416545	18608975	171	47339											
SLC9A8	23315	broad.mit.edu	37	chr20	48500552	48500552	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggacatcgaggacgccaaGgcacaccgcaggaacaagaa	16	2	12	11	3	0	1	0	0	0	1	1	5	0	4	2	4	1	2	2	4	4	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:48500552G>T	ENST00000417961.1	+	14	1698	c.1488G>T	c.(1486-1488)aaG>aaT	p.K496N	SLC9A8_ENST00000539601.1_Missense_Mutation_p.K261N|SLC9A8_ENST00000541138.1_Missense_Mutation_p.K180N|SLC9A8_ENST00000361573.2_Missense_Mutation_p.K480N	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	480						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			AGGACGCCAAGGCACACCGCA	0.612													5	175					5.9392e-07	7.31685e-07	1	0	T	48500552	G	T	48500552	3	4	265	1	0	0	0	0	1	0	0	0	14808	991	35	4	1494	4	SLC9A8	20	48500552	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	4084007	48500552	14524968	172	47340											
NFATC2	4773	broad.mit.edu	37	chr20	50140072	50140072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccggacggggcacgggCgagtggcggcccaggcagct	6	2	21	12	5	0	0	0	0	0	0	0	3	0	1	2	8	1	3	2	8	0	0			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:50140072C>T	ENST00000371564.3	-	2	927	c.708G>A	c.(706-708)tcG>tcA	p.S236S	NFATC2_ENST00000414705.1_Silent_p.S216S|NFATC2_ENST00000396009.3_Silent_p.S236S	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	236	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGGGCACGGGCGAGTGGCGGC	0.667													22	200					0	0	0	0	T	50140072	C	T	50140072	2	4	265	1	0	0	0	0	0	0	0	1	10432	755	27	1		1	NFATC2	20	50140072	Silent	SNP	C	TCGA-CV-6954-01A-11D-1912-08	1639520	50140072	12885448	173	47341											
ZFP64	55734	broad.mit.edu	37	chr20	50705115	50705115	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggtgtggcaccgcatGtgcatggtcaggttgtcctt	6	12	13	10	1	1	0	1	0	0	0	2	0	2	0	2	4	1	4	2	4	0	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:50705115G>A	ENST00000361387.2	-	8	1104	c.1044C>T	c.(1042-1044)caC>caT	p.H348H	ZFP64_ENST00000371523.4_Silent_p.H129H|ZFP64_ENST00000371518.2_Silent_p.H348H	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCACCGCATGTGCATGGTCA	0.522													83	121					0	0	0	0	A	50705115	G	A	50705115	2	1	265	1	0	0	0	0	0	0	0	1	17747	1368	48	4		4	ZFP64	20	50705115	Silent	SNP	G	TCGA-CV-6954-01A-11D-1912-08	565043	50705115	12320405	174	47342											
TCFL5	10732	broad.mit.edu	37	chr20	61490757	61490757	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcaggcaaaactttgtttCtactacctaacgtctgttta	10	15	6	10	1	3	0	1	0	2	0	3	0	3	0	1	1	4	4	1	1	6	7			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:61490757C>G	ENST00000335351.3	-	3	1045	c.953G>C	c.(952-954)aGa>aCa	p.R318T	TCFL5_ENST00000217162.5_Missense_Mutation_p.R270T	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	318					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					AACTTTGTTTCTACTACCTAA	0.443													35	329					0	0	0	0	G	61490757	C	G	61490757	3	3	265	1	0	0	0	0	1	0	0	0	15793	913	32	2	565	2	TCFL5	20	61490757	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08	10785642	61490757	1534763	175	47343											
SYNJ1	8867	broad.mit.edu	37	chr21	34072212	34072212	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcattaagactcaaatctaAactgatgccagatgcagacc	15	8	7	11	1	2	4	1	1	1	3	2	4	2	4	2	0	3	2	2	0	4	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr21:34072212A>T	ENST00000382499.2	-	4	531	c.532T>A	c.(532-534)Tta>Ata	p.L178I	SYNJ1_ENST00000357345.3_Missense_Mutation_p.L139I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.L139I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.L178I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.L139I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	139	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTCAAATCTAAACTGATGCCA	0.388													6	24					0	0	0	0	T	34072212	A	T	34072212	3	4	265	1	0	0	0	0	1	0	0	0	15543	11	1	5	4456	5	SYNJ1	21	34072212	Missense_Mutation	SNP	A	TCGA-CV-6954-01A-11D-1912-08		34072212	14057683	176	47344											
CRYZL1	9946	broad.mit.edu	37	chr21	34997056	34997056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagttatcctctgtaacaGgaagatcttcctagaaccaa	15	10	6	10	0	2	2	0	0	2	2	4	3	4	3	3	1	2	2	3	1	7	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr21:34997056G>T	ENST00000361534.2	-	4	288	c.149C>A	c.(148-150)cCt>cAt	p.P50H	CRYZL1_ENST00000381540.3_Missense_Mutation_p.P26H|CRYZL1_ENST00000445393.1_Missense_Mutation_p.P26H|CRYZL1_ENST00000381554.3_Missense_Mutation_p.P26H|CRYZL1_ENST00000413017.2_Missense_Mutation_p.P26H|CRYZL1_ENST00000290244.5_Missense_Mutation_p.P26H|AP000304.12_ENST00000429238.1_Intron			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	26					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						CTCTGTAACAGGAAGATCTTC	0.299													14	57					1.3612e-06	1.66835e-06	1	0	T	34997056	G	T	34997056	3	4	265	1	0	0	0	0	1	0	0	0	3953	1000	35	4	1016	4	CRYZL1	21	34997056	Missense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08	924844	34997056	13132839	177	47345											
RTN4R	65078	broad.mit.edu	37	chr22	20229737	20229737	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggccacagcgcagccctGcaggtcattggcagctaggc	7	6	15	13	1	1	0	1	0	0	0	1	0	1	0	2	5	4	4	2	5	1	2			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr22:20229737G>A	ENST00000043402.7	-	2	1357	c.919C>T	c.(919-921)Cag>Tag	p.Q307*		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	307	LRRCT.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCGCAGCCCTGCAGGTCATTG	0.682													7	12					0	0	0	0	A	20229737	G	A	20229737	4	1	265	1	0	0	0	0	0	1	0	0	13815	1328	46	4	506	4	RTN4R	22	20229737	Nonsense_Mutation	SNP	G	TCGA-CV-6954-01A-11D-1912-08		20229737	31074829	178	47346											
XBP1	7494	broad.mit.edu	37	chr22	29196498	29196499	+	In_Frame_Ins	INS	-	-	GCC																															cggccgggttcggcgcggctINSgccaccaccaccatagctcc																										TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr22:29196498_29196499insGCC	ENST00000216037.6	-	1	86_87	c.14_15insGGC	c.(13-15)ggc>gGGCgc	p.5_6insR	XBP1_ENST00000344347.5_In_Frame_Ins_p.5_6insR|XBP1_ENST00000403532.3_In_Frame_Ins_p.5_6insR	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	5					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TCGGCGCGGCTGCCACCACCAC	0.762													3	2	---	---	---	---					GCC	29196499	-	GCC	29196498	7	5	265	1	0	1	1	0	0	0	0	0	17518	1567	55	0	1161	0	XBP1	22	29196498	In_Frame_Ins	INS	-	TCGA-CV-6954-01A-11D-1912-08	8966761	29196498	22108068	179	47347											
ZMAT1	84460	broad.mit.edu	37	chrX	101139015	101139015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtaactggttttccaCtacttgtgaaatactatatg	12	15	8	6	0	0	2	0	2	0	0	1	2	1	2	1	2	3	2	1	2	6	8			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrX:101139015C>T	ENST00000372782.3	-	7	1431	c.1384G>A	c.(1384-1386)Gtg>Atg	p.V462M	ZMAT1_ENST00000540921.1_Missense_Mutation_p.V462M|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.V291M	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	291						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGGTTTTCCACTACTTGTGAA	0.413													31	34					0	0	0	0	T	101139015	C	T	101139015	3	4	265	1	0	0	0	0	1	0	0	0	17786	565	20	4	536	4	ZMAT1	23	101139015	Missense_Mutation	SNP	C	TCGA-CV-6954-01A-11D-1912-08		101139015	54131545	180	47348											
ACSL4	2182	broad.mit.edu	37	chrX	108902623	108902623	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttctttcagtatttcagcTtccatagcaggattattgca	10	17	6	8	0	3	0	2	0	1	0	4	1	4	1	1	1	3	4	1	1	3	8			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrX:108902623T>A	ENST00000340800.2	-	16	2442	c.1938A>T	c.(1936-1938)gaA>gaT	p.E646D	ACSL4_ENST00000469796.2_Missense_Mutation_p.E646D|ACSL4_ENST00000348502.6_Missense_Mutation_p.E605D	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	646					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GTATTTCAGCTTCCATAGCAG	0.393													31	26					0	0	0	0	A	108902623	T	A	108902623	3	1	265	1	0	0	0	0	1	0	0	0	179	1606	56	5	205	5	ACSL4	23	108902623	Missense_Mutation	SNP	T	TCGA-CV-6954-01A-11D-1912-08	7763608	108902623	46367937	181	47349											
SMARCA1	6594	broad.mit.edu	37	chrX	128640093	128640093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatcaggcaataaaaagttGagtaaggcccacagttcatg	16	8	9	8	0	2	1	2	1	0	0	2	1	2	1	1	2	0	4	1	2	5	4			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrX:128640093G>A	ENST00000371122.4	-	8	1191	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	SMARCA1_ENST00000371121.3_Silent_p.L354L|SMARCA1_ENST00000371123.1_Silent_p.L354L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	354	Helicase ATP-binding.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATAAAAAGTTGAGTAAGGCCC	0.373													35	33					0	0	0	0	A	128640093	G	A	128640093	2	1	265	1	0	0	0	0	0	0	0	1	14856	1277	45	2		2	SMARCA1	23	128640093	Silent	SNP	G	TCGA-CV-6954-01A-11D-1912-08	19737470	128640093	26630467	182	47350											
PLEKHG5	57449	broad.mit.edu	37	chr1	6534542	6534542	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtagtgtcccccgaacctGtaggcctcgaaggtgaggga	9	7	15	10	2	0	1	0	1	0	0	2	4	1	2	4	4	1	2	4	4	4	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:6534542G>A	ENST00000377748.1	-	7	1136	c.639C>T	c.(637-639)taC>taT	p.Y213Y	PLEKHG5_ENST00000535355.1_Silent_p.Y205Y|PLEKHG5_ENST00000537245.1_Silent_p.Y215Y|PLEKHG5_ENST00000377725.1_Silent_p.Y136Y|PLEKHG5_ENST00000377737.2_Silent_p.Y136Y|PLEKHG5_ENST00000377728.3_Silent_p.Y136Y|PLEKHG5_ENST00000544978.1_Silent_p.Y136Y|PLEKHG5_ENST00000400913.1_Silent_p.Y136Y|PLEKHG5_ENST00000400915.3_Silent_p.Y192Y|PLEKHG5_ENST00000340850.5_Silent_p.Y136Y|PLEKHG5_ENST00000377732.1_Silent_p.Y173Y|PLEKHG5_ENST00000377740.3_Silent_p.Y213Y	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	192					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCGAACCTGTAGGCCTCGA	0.607													6	29					0	0	0	0	A	6534542	G	A	6534542	2	1	266	1	0	0	0	0	0	0	0	1	12145	1372	48	4		4	PLEKHG5	1	6534542	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08		6534542	242716079	1	47351											
NOL9	79707	broad.mit.edu	37	chr1	6609717	6609717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttctagcaacacaatggAacactgaggagaaaaattct	17	9	8	7	0	2	2	0	1	2	1	2	4	2	3	0	2	3	2	0	2	6	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:6609717A>G	ENST00000377705.5	-	3	690	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	220					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		AACACAATGGAACACTGAGGA	0.413													7	71					0	0	0	0	G	6609717	A	G	6609717	3	3	266	1	0	0	0	0	1	0	0	0	10598	246	9	5	1490	5	NOL9	1	6609717	Missense_Mutation	SNP	A	TCGA-CV-6955-01A-11D-2012-08	75175	6609717	242640904	2	47352											
VPS13D	55187	broad.mit.edu	37	chr1	12569009	12569009	+	Frame_Shift_Del	DEL	C	C	-																															gaaataaactacgcaaagagCctctactatgaacagcagct																										TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:12569009delC	ENST00000358136.3	+	70	13228	c.13098delC	c.(13096-13098)agfs	p.S4366fs	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_Frame_Shift_Del_p.S364fs|VPS13D_ENST00000471923.1_Frame_Shift_Del_p.S22fs|VPS13D_ENST00000356315.4_Frame_Shift_Del_p.S4341fs|VPS13D_ENST00000543710.1_Frame_Shift_Del_p.S170fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4365					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACGCAAAGAGCCTCTACTATG	0.522													15	162	---	---	---	---					-	12569009	C	-	12569009	7	5	266	1	0	1	0	1	0	0	0	0	17288	738	26	0	13372	0	VPS13D	1	12569009	Frame_Shift_Del	DEL	C	TCGA-CV-6955-01A-11D-2012-08	5959292	12569009	236681612	3	47353											
CELA2A	63036	broad.mit.edu	37	chr1	15789236	15789236	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttctcccagctcctccaGgacctaccgcgtggggctgg	4	9	11	17	2	1	0	0	0	1	0	4	1	3	1	6	4	2	2	6	4	1	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:15789236G>C	ENST00000359621.4	+	4	261	c.236G>C	c.(235-237)aGg>aCg	p.R79T		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	79	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						AGCTCCTCCAGGACCTACCGC	0.617													29	59					0	0	0	0	C	15789236	G	C	15789236	3	2	266	1	0	0	0	0	1	0	0	0	3240	1000	35	4	250	4	CELA2A	1	15789236	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	3220227	15789236	233461385	4	47354											
HSPG2	3339	broad.mit.edu	37	chr1	22172685	22172685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagagctgcccatcacccGgcacacgtattcacccgagt	9	6	9	17	3	2	1	2	0	0	1	2	2	2	1	4	1	2	3	4	1	1	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:22172685G>A	ENST00000374695.3	-	64	8459	c.8380C>T	c.(8380-8382)Cgg>Tgg	p.R2794W		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2794	Ig-like C2-type 13.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCATCACCCGGCACACGTAT	0.657													15	29					0	0	0	0	A	22172685	G	A	22172685	3	1	266	1	0	0	0	0	1	0	0	0	7483	1115	39	1	4931	1	HSPG2	1	22172685	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	6383449	22172685	227077936	5	47355											
DMRTB1	63948	broad.mit.edu	37	chr1	53930414	53930414	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagccccagttcctcccGccaggctacctctctgcgct	4	8	8	21	3	1	0	0	0	1	0	4	0	3	0	7	1	3	4	7	1	1	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:53930414G>A	ENST00000371445.3	+	3	910	c.855G>A	c.(853-855)ccG>ccA	p.P285P		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	285	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AGTTCCTCCCGCCAGGCTACC	0.647													13	73					0	0	0	0	A	53930414	G	A	53930414	2	1	266	1	0	0	0	0	0	0	0	1	4627	1074	38	1		1	DMRTB1	1	53930414	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08	31757729	53930414	195320207	6	47356											
C1orf168	199920	broad.mit.edu	37	chr1	57257877	57257877	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacgttatgtaatattttGggggccaccacgtgcttctg	8	13	12	8	2	1	1	0	0	1	1	1	2	1	1	2	2	1	3	2	2	3	6			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:57257877G>T	ENST00000343433.6	-	2	689	c.609C>A	c.(607-609)ccC>ccA	p.P203P	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	203										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						GTAATATTTTGGGGGCCACCA	0.488													9	123					2.17888e-05	2.48468e-05	1	0	T	57257877	G	T	57257877	2	4	266	1	0	0	0	0	0	0	0	1	2031	1335	47	4		4	C1orf168	1	57257877	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08	3327463	57257877	191992744	7	47357											
PTGFR	5737	broad.mit.edu	37	chr1	79002110	79002110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggttacaatggccaacattgGaataaatggaaatcattctc	15	11	8	7	0	2	0	1	0	1	0	3	2	2	2	1	4	2	1	1	4	7	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:79002110G>A	ENST00000370756.3	+	4	1126	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	PTGFR_ENST00000370758.1_Missense_Mutation_p.G273E|PTGFR_ENST00000370757.3_Missense_Mutation_p.G273E	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	0					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCCAACATTGGAATAAATGGA	0.343													4	56					0	0	0	0	A	79002110	G	A	79002110	3	1	266	1	0	0	0	0	1	0	0	0	12829	1175	41	2	899	2	PTGFR	1	79002110	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	21744233	79002110	170248511	8	47358											
KCNA3	3738	broad.mit.edu	37	chr1	111216780	111216780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagagcagccacacctggcGctggaagtcgcggcggggca	9	3	17	12	4	0	1	0	0	0	1	1	3	0	2	2	5	2	3	2	5	2	0			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:111216780G>A	ENST00000369769.2	-	1	875	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	218						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACACCTGGCGCTGGAAGTCG	0.672													9	58					0	0	0	0	A	111216780	G	A	111216780	3	1	266	1	0	0	0	0	1	0	0	0	8057	1087	38	1	1079	1	KCNA3	1	111216780	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	32214670	111216780	138033841	9	47359											
UBQLN4	56893	broad.mit.edu	37	chr1	156020169	156020169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgggggttggccataatCatgtgacgcatcagatcagg	10	10	13	8	1	4	2	3	1	1	1	4	2	4	2	1	4	0	2	1	4	1	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:156020169C>T	ENST00000368309.3	-	4	746	c.654G>A	c.(652-654)atG>atA	p.M218I	UBQLN4_ENST00000472638.1_Intron|UBQLN4_ENST00000368307.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	218						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	p.M218I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TGGCCATAATCATGTGACGCA	0.522													6	137					0	0	0	0	T	156020169	C	T	156020169	3	4	266	1	0	0	0	0	1	0	0	0	16995	826	29	2	1183	2	UBQLN4	1	156020169	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	44803389	156020169	93230452	10	47360											
DDX59	83479	broad.mit.edu	37	chr1	200619738	200619738	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccaaaatggtctgacaatCattaggaatgttttccaaaa	17	11	6	7	0	2	1	1	1	1	0	3	2	3	2	2	2	1	1	2	2	8	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:200619738C>G	ENST00000447706.2	-	5	1280	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	DDX59_ENST00000331314.6_Missense_Mutation_p.D377H|DDX59_ENST00000367348.3_Missense_Mutation_p.D377H			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	377	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						GTCTGACAATCATTAGGAATG	0.353													3	39					0	0	0	0	G	200619738	C	G	200619738	3	3	266	1	0	0	0	0	1	0	0	0	4408	826	29	2	746	2	DDX59	1	200619738	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	44599569	200619738	48630883	11	47361											
C1orf198	84886	broad.mit.edu	37	chr1	230979431	230979431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcctcaggcccctcccctCgggaccgctcagcattgatc	5	7	10	19	3	2	1	2	1	0	0	5	2	3	2	6	3	1	2	6	3	0	1			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:230979431C>T	ENST00000366663.5	-	3	736	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000470540.1_Missense_Mutation_p.R161Q|C1orf198_ENST00000523410.1_Missense_Mutation_p.R69Q	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	199										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCCCTCCCCTCGGGACCGCTC	0.627													24	111					0	0	0	0	T	230979431	C	T	230979431	3	4	266	1	0	0	0	0	1	0	0	0	2045	884	31	1	395	1	C1orf198	1	230979431	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	30359693	230979431	18271190	12	47362											
OR2L3	391192	broad.mit.edu	37	chr1	248224880	248224880	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacaaggaggtgatgggggcCctgacacgagtgagtcagag	12	5	17	7	1	1	4	1	3	0	1	1	6	1	5	1	4	1	0	1	4	2	0			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:248224880C>A	ENST00000359959.3	+	1	897	c.897C>A	c.(895-897)gcC>gcA	p.A299A	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGATGGGGGCCCTGACACGAG	0.493													10	58					0.00621372	0.00684562	1	0	A	248224880	C	A	248224880	2	1	266	1	0	0	0	0	0	0	0	1	11079	610	22	4		4	OR2L3	1	248224880	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08	17245449	248224880	1025741	13	47363											
OR2M3	127062	broad.mit.edu	37	chr1	248366774	248366774	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctaagatacaccaatctCatgagccctaaaatttgtgg	13	11	6	11	0	2	2	1	1	2	1	3	2	2	2	3	1	2	0	3	1	5	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:248366774C>G	ENST00000456743.1	+	1	443	c.405C>G	c.(403-405)ctC>ctG	p.L135L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACACCAATCTCATGAGCCCTA	0.438													13	247					0	0	0	0	G	248366774	C	G	248366774	2	3	266	1	0	0	0	0	0	0	0	1	11082	813	29	2		2	OR2M3	1	248366774	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08	141894	248366774	883847	14	47364											
GALNT14	79623	broad.mit.edu	37	chr2	31215732	31215732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgagtgtccgggatggcccGattgctggagatccgctcac	6	8	15	12	4	1	1	1	0	0	1	3	5	3	2	3	3	1	2	3	3	0	1			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:31215732G>A	ENST00000349752.5	-	2	910	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	GALNT14_ENST00000420311.2_Missense_Mutation_p.R56W|GALNT14_ENST00000356174.3_Missense_Mutation_p.R91W|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000406653.1_Missense_Mutation_p.R71W	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	91						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGATGGCCCGATTGCTGGAG	0.562													6	89					0	0	0	0	A	31215732	G	A	31215732	3	1	266	1	0	0	0	0	1	0	0	0	6261	1057	37	1	1443	1	GALNT14	2	31215732	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08		31215732	211983641	15	47365											
EFEMP1	2202	broad.mit.edu	37	chr2	56097911	56097911	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccgaaaagtattgatggTgttggcataaatagttgtgg	13	13	12	3	1	0	1	0	1	0	0	1	2	1	1	1	3	0	4	1	3	7	6			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:56097911T>G	ENST00000394555.2	-	10	1699	c.1264A>C	c.(1264-1266)Acc>Ccc	p.T422P	EFEMP1_ENST00000424836.2_Missense_Mutation_p.T284P|EFEMP1_ENST00000355426.3_Missense_Mutation_p.T422P|EFEMP1_ENST00000394554.1_Missense_Mutation_p.T422P	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	422	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTATTGATGGTGTTGGCATAA	0.418													3	58					0	0	0	0	G	56097911	T	G	56097911	3	3	266	1	0	0	0	0	1	0	0	0	4977	1696	59	5	225	5	EFEMP1	2	56097911	Missense_Mutation	SNP	T	TCGA-CV-6955-01A-11D-2012-08	24882179	56097911	187101462	16	47366											
ARHGAP25	9938	broad.mit.edu	37	chr2	69049988	69049988	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacacagaagcaaatgtatGaggaacagattaaaaagtaa	23	6	8	4	0	0	3	0	1	0	2	0	4	0	4	0	1	3	3	0	1	9	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:69049988G>C	ENST00000295381.3	+	10	2133	c.1714G>C	c.(1714-1716)Gag>Cag	p.E572Q	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E565Q|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E566Q|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E533Q|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E266Q|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E573Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	572					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCAAATGTATGAGGAACAGAT	0.448													3	54					0	0	0	0	C	69049988	G	C	69049988	3	2	266	1	0	0	0	0	1	0	0	0	876	1291	45	2	1795	2	ARHGAP25	2	69049988	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	12952077	69049988	174149385	17	47367											
PCGF1	84759	broad.mit.edu	37	chr2	74733102	74733102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccgctccaggcacaggttCaactgctcatcatagcgata	11	8	9	13	2	3	0	3	0	0	0	4	1	4	0	2	2	4	4	2	2	3	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:74733102C>T	ENST00000233630.6	-	5	1418	c.507G>A	c.(505-507)ttG>ttA	p.L169L	PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	169					histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						GGCACAGGTTCAACTGCTCAT	0.577													13	197					0	0	0	0	T	74733102	C	T	74733102	2	4	266	1	0	0	0	0	0	0	0	1	11645	825	29	2		2	PCGF1	2	74733102	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08	5683114	74733102	168466271	18	47368											
GGCX	2677	broad.mit.edu	37	chr2	85781368	85781368	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaaaccagctgagaggtCaagcagcagcccaccccagt	13	3	11	14	0	1	1	1	1	0	1	1	3	1	2	4	2	5	3	4	2	2	0			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:85781368C>G	ENST00000233838.3	-	7	867	c.787G>C	c.(787-789)Gac>Cac	p.D263H	GGCX_ENST00000430215.3_Missense_Mutation_p.D206H|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	263					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GCTGAGAGGTCAAGCAGCAGC	0.507													6	183					0	0	0	0	G	85781368	C	G	85781368	3	3	266	1	0	0	0	0	1	0	0	0	6407	826	29	2	1525	2	GGCX	2	85781368	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	11048266	85781368	157418005	19	47369											
CKAP2L	150468	broad.mit.edu	37	chr2	113514726	113514726	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggctggagtttaatgctGatggaccttttaggtttgac	7	15	13	6	0	0	2	0	2	0	0	0	4	0	4	1	4	1	4	1	4	2	5	rs77207496	byFrequency	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:113514726G>C	ENST00000541405.1	-	0	250				CKAP2L_ENST00000302450.6_Missense_Mutation_p.I74M|CKAP2L_ENST00000481732.1_5'UTR			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like							centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GTTTAATGCTGATGGACCTTT	0.413													7	183					0	0	0	0	C	113514726	G	C	113514726	1	2	266	1	0	0	0	0	0	0	0	0	3473	1280	45	2		2	CKAP2L	2	113514726	Translation_Start_Site	SNP	G	TCGA-CV-6955-01A-11D-2012-08	27733358	113514726	129684647	20	47370											
LRP1B	53353	broad.mit.edu	37	chr2	141250263	141250263	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattaaaaaaggttcttcatCtaaacaccaacacaaataac	21	9	2	9	0	3	0	1	0	2	0	3	0	3	0	1	1	3	1	1	1	9	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:141250263C>G	ENST00000389484.3	-	57	10006		c.e57-1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGTTCTTCATCTAAACACCAA	0.338										TSP Lung(27;0.18)			6	67					0	0	0	0	G	141250263	C	G	141250263	5	3	266	1	0	0	0	0	0	0	1	0	9019	927	32	2	4905	2	LRP1B	2	141250263	Splice_Site	SNP	C	TCGA-CV-6955-01A-11D-2012-08	27735537	141250263	101949110	21	47371											
NFE2L2	4780	broad.mit.edu	37	chr2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggagaaattcacctgtctCttcatctagttgtaactgag	10	14	9	8	0	4	2	2	1	2	1	5	3	4	2	1	1	1	2	1	1	3	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			5	58					0	0	0	0	T	178098810	C	T	178098810	3	4	266	1	0	0	0	0	1	0	0	0	10438	922	32	2	1598	2	NFE2L2	2	178098810	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	36848547	178098810	65100563	22	47372											
TTC30A	92104	broad.mit.edu	37	chr2	178482118	178482118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccaccattggataattttCaagattccagtagatttttg	11	17	6	7	0	1	2	1	0	0	2	3	3	3	3	3	1	0	1	3	1	3	9			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:178482118C>T	ENST00000355689.4	-	1	1576	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	438					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGATAATTTTCAAGATTCCAG	0.393													4	100					0	0	0	0	T	178482118	C	T	178482118	3	4	266	1	0	0	0	0	1	0	0	0	16794	835	29	2	689	2	TTC30A	2	178482118	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	383308	178482118	64717255	23	47373											
ARMC9	80210	broad.mit.edu	37	chr2	232123816	232123816	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttgcaggctctgcgctggGtaggtacctttgtcttaaag	6	14	13	8	1	2	0	0	0	2	0	2	0	2	0	1	3	3	6	1	3	4	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:232123816G>A	ENST00000349938.4	+	11	1220		c.e11+1		ARMC9_ENST00000483477.1_Splice_Site	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9								binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TCTGCGCTGGGTAGGTACCTT	0.438													11	27					0	0	0	0	A	232123816	G	A	232123816	5	1	266	1	0	0	0	0	0	0	1	0	962	1275	44	4	1065	4	ARMC9	2	232123816	Splice_Site	SNP	G	TCGA-CV-6955-01A-11D-2012-08	53641698	232123816	11075557	24	47374											
TGFBR2	7048	broad.mit.edu	37	chr3	30715720	30715720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctctgggaaatgacatctCgctgtaatgcagtgggaggt	9	11	14	7	1	2	1	0	1	2	0	3	3	2	3	0	3	2	4	0	3	2	1	rs104893811		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:30715720C>T	ENST00000295754.5	+	5	1760	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R485C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	460	Protein kinase.		R -> C (in AAT3).|R -> H (in AAT3).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AATGACATCTCGCTGTAATGC	0.458													7	63					0	0	0	0	T	30715720	C	T	30715720	3	4	266	1	0	0	0	0	1	0	0	0	15916	884	31	1	1475	1	TGFBR2	3	30715720	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08		30715720	167306710	25	47375											
ITIH4	3700	broad.mit.edu	37	chr3	52857598	52857598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccactgactgtggctgtgaGcacatcaggcccccggtcct	6	8	11	16	1	1	2	1	2	0	0	2	2	2	2	4	3	1	2	4	3	0	0			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:52857598G>T	ENST00000266041.4	-	11	1609	c.1513C>A	c.(1513-1515)Ctc>Atc	p.L505I	ITIH4_ENST00000346281.5_Missense_Mutation_p.L505I|ITIH4_ENST00000485816.1_Missense_Mutation_p.L505I|ITIH4_ENST00000434759.3_Missense_Mutation_p.L417I|ITIH4_ENST00000467462.1_5'UTR|ITIH4_ENST00000406595.1_Missense_Mutation_p.L505I	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	505					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GTGGCTGTGAGCACATCAGGC	0.612													8	22					0.000157383	0.000177397	1	0	T	52857598	G	T	52857598	3	4	266	1	0	0	0	0	1	0	0	0	7959	971	34	4	1335	4	ITIH4	3	52857598	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	22141878	52857598	145164832	26	47376											
CACNA1D	776	broad.mit.edu	37	chr3	53844020	53844020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagatcatggcagttgccGgcctagattcaagtaaagcc	11	9	10	11	1	3	2	3	0	0	2	3	2	3	2	3	2	2	3	3	2	4	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:53844020G>A	ENST00000288139.3	+	48	6065	c.5947G>A	c.(5947-5949)Ggc>Agc	p.G1983S	CACNA1D_ENST00000422281.2_Missense_Mutation_p.G1939S|CACNA1D_ENST00000544977.1_Missense_Mutation_p.R347Q|CACNA1D_ENST00000350061.5_Missense_Mutation_p.G1963S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1963					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGCAGTTGCCGGCCTAGATTC	0.612													16	73					0	0	0	0	A	53844020	G	A	53844020	3	1	266	1	0	0	0	0	1	0	0	0	2566	1116	39	1	6245	1	CACNA1D	3	53844020	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	986422	53844020	144178410	27	47377											
C3orf38	285237	broad.mit.edu	37	chr3	88205752	88205752	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacgacataatgtaaagcaGgcttcggatagtggaactgg	13	9	13	6	2	0	0	0	0	0	0	1	3	0	2	0	4	3	4	0	4	6	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:88205752G>A	ENST00000318887.3	+	3	1267	c.957G>A	c.(955-957)caG>caA	p.Q319Q	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	319					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		ATGTAAAGCAGGCTTCGGATA	0.408													20	70					0	0	0	0	A	88205752	G	A	88205752	2	1	266	1	0	0	0	0	0	0	0	1	2248	991	35	4		4	C3orf38	3	88205752	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08	34361732	88205752	109816678	28	47378											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	50					0	0	0	0	A	178936082	G	A	178936082	3	1	266	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	90730330	178936082	19086348	29	47379											
ZBTB49	166793	broad.mit.edu	37	chr4	4314793	4314793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taacttgcagactcacttacGacggcattctggtgaaaaac	13	10	8	10	2	2	2	1	1	1	1	2	3	2	2	0	2	4	2	0	2	4	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:4314793G>A	ENST00000337872.4	+	5	1449	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	ZBTB49_ENST00000538529.1_Intron|ZBTB49_ENST00000355834.3_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R443Q(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ACTCACTTACGACGGCATTCT	0.408													7	50					0	0	0	0	A	4314793	G	A	4314793	3	1	266	1	0	0	0	0	1	0	0	0	17645	1058	37	1	1342	1	ZBTB49	4	4314793	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08		4314793	186839483	30	47380											
EVC	2121	broad.mit.edu	37	chr4	5800433	5800433	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcttctgcagcagcacAtggagtgcgccattgggcag	8	7	15	11	1	1	0	0	0	1	0	1	1	1	1	1	3	5	6	1	3	0	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:5800433A>G	ENST00000382674.2	+	15	2402	c.2218A>G	c.(2218-2220)Atg>Gtg	p.M740V	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Missense_Mutation_p.M740V			P57679	EVC_HUMAN	Ellis van Creveld syndrome	740					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GCAGCAGCACATGGAGTGCGC	0.652													6	15					0	0	0	0	G	5800433	A	G	5800433	3	3	266	1	0	0	0	0	1	0	0	0	5323	217	8	5	2276	5	EVC	4	5800433	Missense_Mutation	SNP	A	TCGA-CV-6955-01A-11D-2012-08	1485640	5800433	185353843	31	47381											
AFAP1	60312	broad.mit.edu	37	chr4	7873772	7873772	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatggtccaggagttcaaGaaagagacgaagttcaacta	15	9	10	7	1	3	2	3	0	0	2	4	5	4	3	1	2	1	2	1	2	5	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:7873772G>C	ENST00000420658.1	-	2	306	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V	AFAP1_ENST00000358461.2_Missense_Mutation_p.L12V|AFAP1_ENST00000382543.3_Missense_Mutation_p.L12V|AFAP1_ENST00000360265.4_Missense_Mutation_p.L12V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	12						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						AGGAGTTCAAGAAAGAGACGA	0.383													3	61					0	0	0	0	C	7873772	G	C	7873772	3	2	266	1	0	0	0	0	1	0	0	0	353	942	33	2	2478	2	AFAP1	4	7873772	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	2073339	7873772	183280504	32	47382											
SOD3	6649	broad.mit.edu	37	chr4	24801554	24801554	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactacaacccgctggccgtGccgcacccgcagcacccggg	7	3	11	20	5	0	0	0	0	0	0	0	0	0	0	5	2	4	4	5	2	2	1			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:24801554G>C	ENST00000382120.3	+	2	616	c.411G>C	c.(409-411)gtG>gtC	p.V137V		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	137					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				CGCTGGCCGTGCCGCACCCGC	0.751													4	26					0	0	0	0	C	24801554	G	C	24801554	2	2	266	1	0	0	0	0	0	0	0	1	15010	1306	46	4		4	SOD3	4	24801554	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08	16927782	24801554	166352722	33	47383											
ADAD1	132612	broad.mit.edu	37	chr4	123336584	123336584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaaatcgctataaagcaaCgtgttgatgatgcactcact	14	11	8	8	2	1	3	1	2	0	1	2	3	1	3	0	0	3	4	0	0	6	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:123336584C>T	ENST00000296513.2	+	11	1485	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	ADAD1_ENST00000388725.2_Missense_Mutation_p.R416C|ADAD1_ENST00000388724.2_Missense_Mutation_p.R423C	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	434	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TATAAAGCAACGTGTTGATGA	0.368													15	75					0	0	0	0	T	123336584	C	T	123336584	3	4	266	1	0	0	0	0	1	0	0	0	231	536	19	1	1334	1	ADAD1	4	123336584	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	98535030	123336584	67817692	34	47384											
FAT1	2195	broad.mit.edu	37	chr4	187539957	187539959	+	In_Frame_Del	DEL	GTG	GTG	-																															gtatttggttgctcgaaattGtggtgcattgtcattgtcat																										TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:187539957_187539959delGTG	ENST00000441802.2	-	10	7990_7992	c.7781_7783delCAC	c.(7780-7785)caa>c	p.PQ2594del		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2594	Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTCGAAATTGTGGTGCATTGTC	0.453										HNSCC(5;0.00058)			8	40	---	---	---	---					-	187539959	GTG	-	187539957	7	5	266	1	0	1	0	1	0	0	0	0	5734	1386	48	0	6055	0	FAT1	4	187539957	In_Frame_Del	DEL	GTG	TCGA-CV-6955-01A-11D-2012-08	64203373	187539957	3614319	35	47385											
FAT1	2195	broad.mit.edu	37	chr4	187629100	187629100	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagccatccattagcgatcGctttaatgacaatacccccg	12	10	6	13	3	0	1	0	1	0	0	2	2	1	1	4	0	3	1	4	0	5	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:187629100G>A	ENST00000441802.2	-	2	2091	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	628	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.R628*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATTAGCGATCGCTTTAATGAC	0.403										HNSCC(5;0.00058)			6	63					0	0	0	0	A	187629100	G	A	187629100	4	1	266	1	0	0	0	0	0	1	0	0	5734	1095	38	1	11988	1	FAT1	4	187629100	Nonsense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	89143	187629100	3525176	36	47386											
FAT1	2195	broad.mit.edu	37	chr4	187630411	187630411	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatagcaaacatatctgttcGatctttaaaactgtagtaaa	17	13	5	6	1	2	0	0	0	2	0	3	1	2	0	0	0	3	4	0	0	9	7			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:187630411G>A	ENST00000441802.2	-	2	780	c.571C>T	c.(571-573)Cga>Tga	p.R191*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	191	Cadherin 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATATCTGTTCGATCTTTAAAA	0.433										HNSCC(5;0.00058)			13	115					0	0	0	0	A	187630411	G	A	187630411	4	1	266	1	0	0	0	0	0	1	0	0	5734	1066	37	1	13299	1	FAT1	4	187630411	Nonsense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	1311	187630411	3523865	37	47387											
MIER3	166968	broad.mit.edu	37	chr5	56234739	56234739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcatgtctggtagttcatCtgccagttcacttggggaac	7	14	11	9	0	5	0	3	0	2	0	5	1	5	1	1	3	2	3	1	3	2	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:56234739C>G	ENST00000381226.3	-	4	316	c.301G>C	c.(301-303)Gat>Cat	p.D101H	MIER3_ENST00000381199.3_Missense_Mutation_p.D96H|MIER3_ENST00000381213.3_Missense_Mutation_p.D96H|MIER3_ENST00000409421.1_Missense_Mutation_p.D33H			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		GGTAGTTCATCTGCCAGTTCA	0.393													6	63					0	0	0	0	G	56234739	C	G	56234739	3	3	266	1	0	0	0	0	1	0	0	0	9651	913	32	2	1403	2	MIER3	5	56234739	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08		56234739	124680521	38	47388											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799566	140799566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattctagctattgctctaCgcctgcgacagtctttcagc	7	14	8	12	2	4	1	1	1	3	0	4	2	4	1	1	0	5	2	1	0	3	6			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:140799566C>T	ENST00000398594.2	+	1	2140	c.2140C>T	c.(2140-2142)Cgc>Tgc	p.R714C	PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTGCTCTACGCCTGCGACA	0.552													26	54					0	0	0	0	T	140799566	C	T	140799566	3	4	266	1	0	0	0	0	1	0	0	0	11639	536	19	1	2142	1	PCDHGB7	5	140799566	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	84564827	140799566	40115694	39	47389											
PCDHGA12	26025	broad.mit.edu	37	chr5	140810887	140810887	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtgcaaaatggagccgaCggtagtaagtaccccgaatt	13	8	11	9	4	0	0	0	0	0	0	1	3	0	1	3	2	3	4	3	2	6	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:140810887C>T	ENST00000252085.3	+	1	703	c.561C>T	c.(559-561)gaC>gaT	p.D187D	PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGAGCCGACGGTAGTAAGT	0.607													9	132					0	0	0	0	T	140810887	C	T	140810887	2	4	266	1	0	0	0	0	0	0	0	1	11624	535	19	1		1	PCDHGA12	5	140810887	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08	11321	140810887	40104373	40	47390											
FAT2	2196	broad.mit.edu	37	chr5	150924152	150924153	+	Frame_Shift_Ins	INS	-	-	T																															ggtgatattttcaggtactcINStgactttgtaataaggactc																										TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:150924152_150924153insT	ENST00000261800.5	-	9	6547_6548	c.6535_6536insA	c.(6535-6537)agtfs	p.S2179fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2179	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGGTACTCTGACTTTGTAA	0.5													18	155	---	---	---	---					T	150924153	-	T	150924152	7	5	266	1	0	1	1	0	0	0	0	0	5735	913	32	0	6573	0	FAT2	5	150924152	Frame_Shift_Ins	INS	-	TCGA-CV-6955-01A-11D-2012-08	10113265	150924152	29991108	41	47391											
ATP10B	23120	broad.mit.edu	37	chr5	160033923	160033923	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttccctggaagatggcattCaatgtcttcccatcgatgac	9	13	8	11	1	2	2	1	1	1	1	5	4	4	3	2	2	0	1	2	2	2	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:160033923C>T	ENST00000327245.5	-	19	3855	c.3009G>A	c.(3007-3009)ttG>ttA	p.L1003L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1003					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGGCATTCAATGTCTTCC	0.512													5	111					0	0	0	0	T	160033923	C	T	160033923	2	4	266	1	0	0	0	0	0	0	0	1	1121	825	29	2		2	ATP10B	5	160033923	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08	9109771	160033923	20881337	42	47392											
FOXQ1	94234	broad.mit.edu	37	chr6	1313527	1313527	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggacaactactggatgctCaaccccaacagcgagtacac	15	5	8	13	1	1	0	1	0	0	0	1	3	1	2	2	2	7	2	2	2	6	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:1313527C>G	ENST00000296839.2	+	1	853	c.588C>G	c.(586-588)ctC>ctG	p.L196L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	196					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ACTGGATGCTCAACCCCAACA	0.711													3	62					0	0	0	0	G	1313527	C	G	1313527	2	3	266	1	0	0	0	0	0	0	0	1	6077	813	29	2		2	FOXQ1	6	1313527	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08		1313527	169801540	43	47393											
SIRT5	23408	broad.mit.edu	37	chr6	13601120	13601120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgccccccaggtggctGccaggggcgtgccagtggct	3	9	16	13	1	0	0	0	0	0	0	0	0	0	0	5	5	3	3	5	5	0	1			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:13601120G>T	ENST00000606117.1	+	9	1092	c.796G>T	c.(796-798)Gcc>Tcc	p.A266S	SIRT5_ENST00000359782.3_Missense_Mutation_p.A248S|SIRT5_ENST00000397350.2_Missense_Mutation_p.A158S|SIRT5_ENST00000379262.4_Missense_Mutation_p.A266S	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	266	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	CCAGGTGGCTGCCAGGGGCGT	0.577													7	39					0.000274275	0.000305621	1	0	T	13601120	G	T	13601120	3	4	266	1	0	0	0	0	1	0	0	0	14429	1319	46	4	822	4	SIRT5	6	13601120	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	12287593	13601120	157513947	44	47394											
RBM24	221662	broad.mit.edu	37	chr6	17291995	17291995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttctcaacaggatacctgCccactatgtctatccgcagg	10	11	7	13	1	2	0	1	0	2	0	4	1	3	1	3	2	3	1	3	2	4	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:17291995C>T	ENST00000379052.5	+	4	592	c.356C>T	c.(355-357)gCc>gTc	p.A119V	RBM24_ENST00000318204.5_Missense_Mutation_p.A74V|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_Missense_Mutation_p.A61V	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	119					cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			AGGATACCTGCCCACTATGTC	0.483													26	162					0	0	0	0	T	17291995	C	T	17291995	3	4	266	1	0	0	0	0	1	0	0	0	13206	739	26	4	403	4	RBM24	6	17291995	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	3690875	17291995	153823072	45	47395											
ETV7	51513	broad.mit.edu	37	chr6	36334462	36334462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgtccttgaactctattCtgtcctgctcctggctctcc	3	17	6	15	0	4	1	0	1	4	0	8	1	7	1	4	1	2	2	4	1	2	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:36334462C>T	ENST00000373738.1	-	7	1666	c.821G>A	c.(820-822)aGa>aAa	p.R274K	ETV7_ENST00000538992.1_Missense_Mutation_p.R178K|ETV7_ENST00000339796.5_Intron|ETV7_ENST00000373737.4_Missense_Mutation_p.R252K|ETV7_ENST00000340181.4_Missense_Mutation_p.R329K	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	329					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GAACTCTATTCTGTCCTGCTC	0.577													6	149					0	0	0	0	T	36334462	C	T	36334462	3	4	266	1	0	0	0	0	1	0	0	0	5322	913	32	2	43	2	ETV7	6	36334462	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	19042467	36334462	134780605	46	47396											
UTRN	7402	broad.mit.edu	37	chr6	145103095	145103095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtacaacaaatgaaattttCaaacagcacaagttgaacca	20	8	5	8	0	1	2	1	2	0	0	1	2	1	2	1	0	5	3	1	0	7	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:145103095C>G	ENST00000367545.3	+	60	8670	c.8670C>G	c.(8668-8670)ttC>ttG	p.F2890L	UTRN_ENST00000367526.4_Missense_Mutation_p.F445L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2890	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGAAATTTTCAAACAGCACA	0.368													4	37					0	0	0	0	G	145103095	C	G	145103095	3	3	266	1	0	0	0	0	1	0	0	0	17199	825	29	2	8908	2	UTRN	6	145103095	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	108768633	145103095	26011972	47	47397											
SYNE1	23345	broad.mit.edu	37	chr6	152841678	152841678	+	Splice_Site	DEL	C	C	-																															cggcgtccttgttcacaaggCtgtaaaaagtggggtaaaaa																										TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:152841678delC	ENST00000367255.5	-	6	827		c.e6-1		SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000367248.3_Splice_Site|SYNE1_ENST00000466159.2_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000413186.2_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000367253.4_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCACAAGGCTGTAAAAAGT	0.368										HNSCC(10;0.0054)			7	115	---	---	---	---					-	152841678	C	-	152841678	8	5	266	1	0	1	0	1	0	0	1	0	15536	811	28	0	26830	0	SYNE1	6	152841678	Splice_Site	DEL	C	TCGA-CV-6955-01A-11D-2012-08	7738583	152841678	18273389	48	47398											
RGS17	26575	broad.mit.edu	37	chr6	153347617	153347617	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggacctggatactctccaTttttgtagtgtgtgtgggtc	6	16	12	7	0	1	0	0	0	1	0	3	2	1	2	2	3	1	1	2	3	3	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:153347617T>G	ENST00000367225.2	-	2	205	c.181A>C	c.(181-183)Atg>Ctg	p.M61L	RGS17_ENST00000206262.1_Missense_Mutation_p.M61L			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	61					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		ATACTCTCCATTTTTGTAGTG	0.413													31	79					0	0	0	0	G	153347617	T	G	153347617	3	3	266	1	0	0	0	0	1	0	0	0	13382	1493	52	5	463	5	RGS17	6	153347617	Missense_Mutation	SNP	T	TCGA-CV-6955-01A-11D-2012-08	505939	153347617	17767450	49	47399											
SERAC1	84947	broad.mit.edu	37	chr6	158565392	158565392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagatcactctcttcgcttCgtgccaaaccaataagagtt	12	11	7	11	2	2	2	1	0	1	2	5	3	2	2	2	0	2	2	2	0	4	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:158565392C>T	ENST00000367102.2	-	7	689	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	SERAC1_ENST00000367104.3_Missense_Mutation_p.R183Q|SERAC1_ENST00000367101.1_Missense_Mutation_p.R183Q			Q96JX3	SRAC1_HUMAN	serine active site containing 1	183					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CTCTTCGCTTCGTGCCAAACC	0.338													4	47					0	0	0	0	T	158565392	C	T	158565392	3	4	266	1	0	0	0	0	1	0	0	0	14161	884	31	1	1460	1	SERAC1	6	158565392	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	5217775	158565392	12549675	50	47400											
THBS2	7058	broad.mit.edu	37	chr6	169648845	169648845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccctggacttgccgtcCtgcttgagctgggccgtgag	3	10	15	13	2	0	2	0	2	0	0	1	3	1	3	5	2	4	2	5	2	0	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:169648845C>G	ENST00000366787.3	-	4	525	c.276G>C	c.(274-276)caG>caC	p.Q92H		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	92	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACTTGCCGTCCTGCTTGAGCT	0.622													8	65					0	0	0	0	G	169648845	C	G	169648845	3	3	266	1	0	0	0	0	1	0	0	0	15948	680	24	4	3322	4	THBS2	6	169648845	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	11083453	169648845	1466222	51	47401											
EIF2AK1	27102	broad.mit.edu	37	chr7	6085734	6085734	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttagttgcacccttaaTcaggattttttttattgcat	8	21	6	6	0	1	0	1	0	0	0	1	1	1	1	1	1	2	4	1	1	3	9			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:6085734T>A	ENST00000199389.6	-	6	744	c.598A>T	c.(598-600)Att>Ttt	p.I200F	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.I76F|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	200	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GCACCCTTAATCAGGATTTTT	0.254													5	21					0	0	0	0	A	6085734	T	A	6085734	3	1	266	1	0	0	0	0	1	0	0	0	5032	1435	50	5	1334	5	EIF2AK1	7	6085734	Missense_Mutation	SNP	T	TCGA-CV-6955-01A-11D-2012-08		6085734	153052929	52	47402											
CACNA2D1	781	broad.mit.edu	37	chr7	81714097	81714097	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacctacctggataatatcGagctaggccagtggcactgc	10	8	11	12	1	0	0	0	0	0	0	1	2	0	1	3	3	3	3	3	3	4	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:81714097G>A	ENST00000356860.3	-	7	984	c.646C>T	c.(646-648)Cga>Tga	p.R216*	CACNA2D1_ENST00000423588.1_Nonsense_Mutation_p.R216*|CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.R216*	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	216						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GGATAATATCGAGCTAGGCCA	0.423													13	45					0	0	0	0	A	81714097	G	A	81714097	4	1	266	1	0	0	0	0	0	1	0	0	2573	1066	37	1	2761	1	CACNA2D1	7	81714097	Nonsense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	75628363	81714097	77424566	53	47403											
TMEM130	222865	broad.mit.edu	37	chr7	98446224	98446224	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctccaccatgtccttttgCtgagtggcattccgcagggt	6	12	10	13	1	0	1	0	1	0	0	3	1	3	1	5	2	1	3	5	2	0	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:98446224C>T	ENST00000450876.1	-	7	2164	c.849G>A	c.(847-849)caG>caA	p.Q283Q	TMEM130_ENST00000345589.4_Silent_p.Q265Q|TMEM130_ENST00000416379.2_Silent_p.Q367Q|TMEM130_ENST00000546258.1_Silent_p.Q348Q|TMEM130_ENST00000339375.4_Silent_p.Q367Q			Q8N3G9	TM130_HUMAN	transmembrane protein 130	367						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTCCTTTTGCTGAGTGGCAT	0.557													13	67					0	0	0	0	T	98446224	C	T	98446224	2	4	266	1	0	0	0	0	0	0	0	1	16137	796	28	4		4	TMEM130	7	98446224	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08	16732127	98446224	60692439	54	47404											
PTCD1	26024	broad.mit.edu	37	chr7	99027337	99027337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccggagcttcagggcgctCtgtagagctgagtccttcca	6	10	13	12	2	2	2	1	1	1	1	4	3	4	3	3	2	3	4	3	2	1	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:99027337C>G	ENST00000292478.4	-	4	937	c.687G>C	c.(685-687)caG>caC	p.Q229H	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.Q278H|PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_Missense_Mutation_p.Q278H	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGGGCGCTCTGTAGAGCTG	0.597													4	63					0	0	0	0	G	99027337	C	G	99027337	3	3	266	1	0	0	0	0	1	0	0	0	12806	912	32	2	1435	2	PTCD1	7	99027337	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	581113	99027337	60111326	55	47405											
ZSCAN21	7589	broad.mit.edu	37	chr7	99654858	99654858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtgagtggctgaggcccGagatccacaccaaggagcag	10	5	15	11	1	0	3	0	2	0	1	1	5	1	4	3	3	1	3	3	3	1	0			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:99654858G>A	ENST00000292450.4	+	2	393	c.229G>A	c.(229-231)Gag>Aag	p.E77K	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E77K|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E77K|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	77	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCTGAGGCCCGAGATCCACAC	0.637													5	40					0	0	0	0	A	99654858	G	A	99654858	3	1	266	1	0	0	0	0	1	0	0	0	18325	1059	37	1	231	1	ZSCAN21	7	99654858	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	627521	99654858	59483805	56	47406											
EPO	2056	broad.mit.edu	37	chr7	100320365	100320365	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcggggccaggccctgttgGtcaactcttcccagccgtgg	4	9	14	14	2	2	0	1	0	1	0	3	0	3	0	4	5	3	1	4	5	1	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:100320365G>C	ENST00000252723.2	+	4	506	c.325G>C	c.(325-327)Gtc>Ctc	p.V109L		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	109					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GGCCCTGTTGGTCAACTCTTC	0.657													3	61					0	0	0	0	C	100320365	G	C	100320365	3	2	266	1	0	0	0	0	1	0	0	0	5226	1261	44	4	339	4	EPO	7	100320365	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	665507	100320365	58818298	57	47407											
CUX1	1523	broad.mit.edu	37	chr7	101838850	101838850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgctgcagtccgagaacGccgcgctgcgcatctccaac	7	6	11	17	6	1	1	0	0	1	1	4	2	2	1	3	0	4	5	3	0	2	0			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:101838850G>A	ENST00000360264.3	+	14	1242	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	CUX1_ENST00000393824.3_Missense_Mutation_p.A369T|CUX1_ENST00000549414.2_Missense_Mutation_p.A397T|CUX1_ENST00000556210.1_Missense_Mutation_p.A397T|CUX1_ENST00000437600.4_Missense_Mutation_p.A406T|CUX1_ENST00000546411.2_Missense_Mutation_p.A397T|CUX1_ENST00000547394.2_Missense_Mutation_p.A392T|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Missense_Mutation_p.A408T|CUX1_ENST00000550008.2_Missense_Mutation_p.A397T|CUX1_ENST00000425244.2_Missense_Mutation_p.A362T|CUX1_ENST00000292535.7_Missense_Mutation_p.A397T	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	397					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTCCGAGAACGCCGCGCTGCG	0.682													6	33					0	0	0	0	A	101838850	G	A	101838850	3	1	266	1	0	0	0	0	1	0	0	0	4096	1087	38	1	1310	1	CUX1	7	101838850	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	1518485	101838850	57299813	58	47408											
FEZF1	389549	broad.mit.edu	37	chr7	121942917	121942917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtagcccgcgtgtattcgGgtatgagtgtttaaagtgga	8	14	14	5	3	0	1	0	1	0	0	1	2	0	2	1	2	1	4	1	2	5	7			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:121942917G>A	ENST00000442488.2	-	3	1072	c.1005C>T	c.(1003-1005)acC>acT	p.T335T	FEZF1_ENST00000331178.4_Silent_p.T331T|FEZF1_ENST00000427185.2_Silent_p.T285T	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	335					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CGTGTATTCGGGTATGAGTGT	0.408													26	62					0	0	0	0	A	121942917	G	A	121942917	2	1	266	1	0	0	0	0	0	0	0	1	5870	1219	43	4		4	FEZF1	7	121942917	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08	20104067	121942917	37195746	59	47409											
TAS2R41	259287	broad.mit.edu	37	chr7	143175518	143175518	+	Frame_Shift_Del	DEL	A	A	-																															catactatttcccatccctgAaactggtcatctggtcaatt																										TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:143175518delA	ENST00000408916.1	+	1	553	c.553delA	c.(553-555)aafs	p.K185fs	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	185					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCCATCCCTGAAACTGGTCAT	0.368													11	74	---	---	---	---					-	143175518	A	-	143175518	7	5	266	1	0	1	0	1	0	0	0	0	15670	247	9	0	555	0	TAS2R41	7	143175518	Frame_Shift_Del	DEL	A	TCGA-CV-6955-01A-11D-2012-08	21232601	143175518	15963145	60	47410											
ZNF786	136051	broad.mit.edu	37	chr7	148777738	148777738	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatgcttgtaaagttccttCtgccatgcctctagatcctg	8	14	7	12	0	2	1	0	0	2	1	4	1	4	1	4	0	3	3	4	0	3	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:148777738C>G	ENST00000491431.1	-	2	154	c.90G>C	c.(88-90)caG>caC	p.Q30H	ZNF786_ENST00000316286.9_Intron|ZNF786_ENST00000451334.3_5'UTR	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AAAGTTCCTTCTGCCATGCCT	0.428													3	55					0	0	0	0	G	148777738	C	G	148777738	3	3	266	1	0	0	0	0	1	0	0	0	18251	912	32	2	2270	2	ZNF786	7	148777738	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	5602220	148777738	10360925	61	47411											
WHSC1L1	54904	broad.mit.edu	37	chr8	38148029	38148029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttaatactagtctgcccttCagcaaagcttttgtctcctt	8	16	6	11	0	3	0	1	0	2	0	4	0	3	0	2	0	4	3	2	0	4	7			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:38148029C>T	ENST00000317025.8	-	17	3599	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E1028K|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E979K	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1028					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTCTGCCCTTCAGCAAAGCTT	0.443			T	NUP98	AML								8	171					0	0	0	0	T	38148029	C	T	38148029	3	4	266	1	0	0	0	0	1	0	0	0	17459	835	29	2	1263	2	WHSC1L1	8	38148029	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08		38148029	108215993	62	47412											
ZFHX4	79776	broad.mit.edu	37	chr8	77618162	77618162	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctcaccgggcagtggcatCgagtgtccaaagtgcgacac	9	6	14	12	3	1	0	1	0	0	0	3	2	2	0	2	3	1	3	2	3	1	0			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:77618162C>T	ENST00000521891.2	+	2	2287	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	ZFHX4_ENST00000518282.1_Silent_p.I613I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.I613I|ZFHX4_ENST00000455469.2_Silent_p.I613I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	613						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGTGGCATCGAGTGTCCAA	0.557										HNSCC(33;0.089)			6	80					0	0	0	0	T	77618162	C	T	77618162	2	4	266	1	0	0	0	0	0	0	0	1	17730	874	31	1		1	ZFHX4	8	77618162	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08	39470133	77618162	68745860	63	47413											
VPS13B	157680	broad.mit.edu	37	chr8	100832288	100832288	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgggacctctggctatttGaaggagagaaaattgttcta	13	12	11	5	0	2	2	0	1	2	1	2	5	2	4	1	3	0	2	1	3	6	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:100832288G>C	ENST00000358544.2	+	49	9118	c.9007G>C	c.(9007-9009)Gaa>Caa	p.E3003Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E2978Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3003					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGGCTATTTGAAGGAGAGAA	0.378													4	105					0	0	0	0	C	100832288	G	C	100832288	3	2	266	1	0	0	0	0	1	0	0	0	17286	1291	45	2	9391	2	VPS13B	8	100832288	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	23214126	100832288	45531734	64	47414											
RNF139	11236	broad.mit.edu	37	chr8	125498991	125498991	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actgcagtcctgcattttatCcatggaatgacagaccctgt	10	12	8	11	0	0	2	0	1	0	1	2	3	2	3	3	1	2	2	3	1	2	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:125498991C>T	ENST00000303545.3	+	2	1473	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	367					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGCATTTTATCCATGGAATGA	0.423													19	202					0	0	0	0	T	125498991	C	T	125498991	2	4	266	1	0	0	0	0	0	0	0	1	13527	845	30	2		2	RNF139	8	125498991	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08	24666703	125498991	20865031	65	47415											
BAI1	575	broad.mit.edu	37	chr8	143569790	143569790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccccatgaagggctggCgggccacgggtgactgggcc	5	6	17	13	2	0	2	0	2	0	0	1	2	1	2	4	5	0	2	4	5	1	1			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:143569790C>T	ENST00000517894.1	+	14	3268	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	BAI1_ENST00000323289.5_Missense_Mutation_p.R792W			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	792					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAAGGGCTGGCGGGCCACGGG	0.632													5	119					0	0	0	0	T	143569790	C	T	143569790	3	4	266	1	0	0	0	0	1	0	0	0	1302	759	27	1	2424	1	BAI1	8	143569790	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	18070799	143569790	2794232	66	47416											
TESK1	7016	broad.mit.edu	37	chr9	35609464	35609464	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggggagccctggaacCgggcccagcatagcctgccc	6	4	16	15	1	0	0	0	0	0	0	0	2	0	2	5	5	5	2	5	5	2	1	rs142237307	byFrequency	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:35609464C>A	ENST00000336395.5	+	10	1856	c.1606C>A	c.(1606-1608)Cgg>Agg	p.R536R	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	536					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCCTGGAACCGGGCCCAGCA	0.687													18	28					1.67942e-08	1.99687e-08	1	0	A	35609464	C	A	35609464	2	1	266	1	0	0	0	0	0	0	0	1	15861	643	23	3		3	TESK1	9	35609464	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08		35609464	105603967	67	47417											
TRPM3	80036	broad.mit.edu	37	chr9	73164531	73164531	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttctctgaagtattcttCtatgcattgctcttcaaagt	8	19	5	9	0	5	1	1	1	4	0	6	1	5	1	0	0	2	3	0	0	4	8			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:73164531C>G	ENST00000377110.2	-	24	3841	c.3598G>C	c.(3598-3600)Gaa>Caa	p.E1200Q	TRPM3_ENST00000408909.2_Missense_Mutation_p.E1059Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1200Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1072Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1059Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1062Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1072Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1062Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1204Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1227Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1049Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1059Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1225						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGTATTCTTCTATGCATTGC	0.413													3	71					0	0	0	0	G	73164531	C	G	73164531	3	3	266	1	0	0	0	0	1	0	0	0	16682	922	32	2	1533	2	TRPM3	9	73164531	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	37555067	73164531	68048900	68	47418											
SURF1	6834	broad.mit.edu	37	chr9	136220669	136220669	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagttgaggaggagatgagGccgccctcccgggcctcccg	6	6	16	13	3	0	4	0	3	0	1	2	6	2	5	5	4	0	1	5	4	0	1			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:136220669G>A	ENST00000371974.3	-	5	481	c.450C>T	c.(448-450)ggC>ggT	p.G150G	SURF1_ENST00000495952.1_5'UTR	NM_003172.2	NP_003163.1	Q15526	SURF1_HUMAN	surfeit 1	150					aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		AGGAGATGAGGCCGCCCTCCC	0.617													8	176					0	0	0	0	A	136220669	G	A	136220669	2	1	266	1	0	0	0	0	0	0	0	1	15493	1190	42	4		4	SURF1	9	136220669	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08	63056138	136220669	4992762	69	47419											
NOTCH1	4851	broad.mit.edu	37	chr9	139399790	139399790	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttccgcacgctggcagtCaaagccgtcgaagaggcagc	9	5	13	14	4	1	1	1	0	0	1	3	2	2	1	3	2	2	4	3	2	2	1			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:139399790C>G	ENST00000277541.6	-	25	4633	c.4558G>C	c.(4558-4560)Gac>Cac	p.D1520H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1520					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCTGGCAGTCAAAGCCGTCG	0.627			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			2	6					0	0	0	0	G	139399790	C	G	139399790	3	3	266	1	0	0	0	0	1	0	0	0	10617	826	29	2	3149	2	NOTCH1	9	139399790	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	3179121	139399790	1813641	70	47420											
NOTCH1	4851	broad.mit.edu	37	chr9	139412284	139412284	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgggttcgagacgcactcgTtgacgtcgatctcgcatcgg	7	9	13	12	8	1	2	0	1	1	1	6	4	1	2	0	2	0	4	0	2	0	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:139412284T>G	ENST00000277541.6	-	8	1436	c.1361A>C	c.(1360-1362)aAc>aCc	p.N454T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	454	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.N454delN(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GACGCACTCGTTGACGTCGAT	0.657			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			11	84					0	0	0	0	G	139412284	T	G	139412284	3	3	266	1	0	0	0	0	1	0	0	0	10617	1725	60	5	6414	5	NOTCH1	9	139412284	Missense_Mutation	SNP	T	TCGA-CV-6955-01A-11D-2012-08	12494	139412284	1801147	71	47421											
NOTCH1	4851	broad.mit.edu	37	chr9	139418203	139418204	+	Frame_Shift_Ins	INS	-	-	T																															ggcagcggcacttgtactccINSgtcagcgtgagcaggtcgca																										TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:139418203_139418204insT	ENST00000277541.6	-	3	443_444	c.368_369insA	c.(367-369)agafs	p.R123fs	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	123	EGF-like 3.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACTTGTACTCCGTCAGCGTGAG	0.708			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			8	28	---	---	---	---					T	139418204	-	T	139418203	7	5	266	1	0	1	1	0	0	0	0	0	10617	639	23	0	7426	0	NOTCH1	9	139418203	Frame_Shift_Ins	INS	-	TCGA-CV-6955-01A-11D-2012-08	5919	139418203	1795228	72	47422											
CACNA1B	774	broad.mit.edu	37	chr9	140991032	140991032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacttggatgagttcatcCgggtctgggctgaatacgac	9	10	12	10	2	2	2	1	2	1	0	3	4	3	3	2	3	1	2	2	3	2	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:140991032C>T	ENST00000277549.5	+	37	5342	c.2773C>T	c.(2773-2775)Cgg>Tgg	p.R925W	CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1732W|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1730W|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1729W|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1731W|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1731W|CACNA1B_ENST00000371365.2_Missense_Mutation_p.R95W			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1731					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGAGTTCATCCGGGTCTGGGC	0.562													37	47					0	0	0	0	T	140991032	C	T	140991032	3	4	266	1	0	0	0	0	1	0	0	0	2564	643	23	1	5333	1	CACNA1B	9	140991032	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	1572829	140991032	222399	73	47423											
SEC61A2	55176	broad.mit.edu	37	chr10	12197794	12197794	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttgtttgttgctggtttGattgtgctgctgttagatga	5	19	13	4	0	0	3	0	2	0	1	0	3	0	3	0	1	3	8	0	1	1	6			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr10:12197794G>A	ENST00000379033.3	+	6	561	c.414G>A	c.(412-414)ttG>ttA	p.L138L	SEC61A2_ENST00000379020.4_Silent_p.L160L|SEC61A2_ENST00000304267.8_Silent_p.L160L|SEC61A2_ENST00000298428.9_Silent_p.L160L|SEC61A2_ENST00000495368.1_3'UTR	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	160						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TTGCTGGTTTGATTGTGCTGC	0.473													34	303					0	0	0	0	A	12197794	G	A	12197794	2	1	266	1	0	0	0	0	0	0	0	1	14088	1281	45	2		2	SEC61A2	10	12197794	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08		12197794	123336953	74	47424											
ACBD5	91452	broad.mit.edu	37	chr10	27512312	27512312	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actctttttgtcctcgacaaTttcataaaatggacctatga	12	15	5	9	1	2	1	1	1	1	0	4	3	3	2	2	1	0	0	2	1	4	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr10:27512312T>A	ENST00000396271.3	-	5	571	c.445A>T	c.(445-447)Att>Ttt	p.I149F	ACBD5_ENST00000375888.1_Missense_Mutation_p.I147F|ACBD5_ENST00000375901.1_Missense_Mutation_p.I40F|ACBD5_ENST00000375897.3_Missense_Mutation_p.I40F|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.I114F	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	147					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCCTCGACAATTTCATAAAAT	0.318													3	51					0	0	0	0	A	27512312	T	A	27512312	3	1	266	1	0	0	0	0	1	0	0	0	125	1493	52	5	1168	5	ACBD5	10	27512312	Missense_Mutation	SNP	T	TCGA-CV-6955-01A-11D-2012-08	15314518	27512312	108022435	75	47425											
IFIT2	3433	broad.mit.edu	37	chr10	91066451	91066451	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggagaaagccccaggtgtAacagatgttcttcgcagtgc	10	10	12	9	1	1	2	0	0	1	2	2	3	1	2	2	2	3	3	2	2	2	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr10:91066451A>T	ENST00000371826.3	+	2	907	c.738A>T	c.(736-738)gtA>gtT	p.V246V	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	246					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				CCCCAGGTGTAACAGATGTTC	0.438													19	54					0	0	0	0	T	91066451	A	T	91066451	2	4	266	1	0	0	0	0	0	0	0	1	7576	349	13	5		5	IFIT2	10	91066451	Silent	SNP	A	TCGA-CV-6955-01A-11D-2012-08	63554139	91066451	44468296	76	47426											
TACC2	10579	broad.mit.edu	37	chr10	123970684	123970684	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggaggtaaccccatcGgatagcggggggcaagagga	11	3	19	8	2	0	1	0	0	0	1	1	4	0	4	2	8	2	3	2	8	3	2	rs35532970		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr10:123970684G>A	ENST00000369005.1	+	9	7084	c.6744G>A	c.(6742-6744)tcG>tcA	p.S2248S	TACC2_ENST00000513429.1_Silent_p.S394S|TACC2_ENST00000368999.1_Silent_p.S326S|TACC2_ENST00000515273.1_Silent_p.S2252S|TACC2_ENST00000369004.3_Silent_p.S326S|TACC2_ENST00000453444.2_Silent_p.S2252S|TACC2_ENST00000358010.1_Silent_p.S394S|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000334433.3_Silent_p.S2248S|TACC2_ENST00000260733.3_Silent_p.S326S|TACC2_ENST00000360561.3_Silent_p.S326S|TACC2_ENST00000515603.1_Silent_p.S2203S|TACC2_ENST00000369001.1_5'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2248						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TAACCCCATCGGATAGCGGGG	0.602													5	55					0	0	0	0	A	123970684	G	A	123970684	2	1	266	1	0	0	0	0	0	0	0	1	15593	1103	39	1		1	TACC2	10	123970684	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08	32904233	123970684	11564063	77	47427											
CUZD1	50624	broad.mit.edu	37	chr10	124598737	124598737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcactttcacagcttccatCtggatcaagcctgtggaaaa	11	12	7	11	0	4	0	3	0	1	0	5	2	5	2	2	2	2	1	2	2	3	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr10:124598737C>T	ENST00000368904.1	-	5	1193	c.244G>A	c.(244-246)Gat>Aat	p.D82N	CUZD1_ENST00000545804.1_Missense_Mutation_p.D82N|CUZD1_ENST00000392790.1_Missense_Mutation_p.D82N			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	82	CUB 1.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAGCTTCCATCTGGATCAAGC	0.453													7	107					0	0	0	0	T	124598737	C	T	124598737	3	4	266	1	0	0	0	0	1	0	0	0	4098	913	32	2	1607	2	CUZD1	10	124598737	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	628053	124598737	10936010	78	47428											
NLRP6	171389	broad.mit.edu	37	chr11	281225	281225	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagaggtcacctaccagttCatcgaccagagcttccagga	12	7	9	13	1	2	2	2	0	0	2	4	4	3	3	4	2	2	2	4	2	1	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:281225C>G	ENST00000534750.1	+	4	1696	c.1491C>G	c.(1489-1491)ttC>ttG	p.F497L	NLRP6_ENST00000312165.5_Missense_Mutation_p.F497L	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	497	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTACCAGTTCATCGACCAGA	0.627													5	122					0	0	0	0	G	281225	C	G	281225	3	3	266	1	0	0	0	0	1	0	0	0	10551	825	29	2	1505	2	NLRP6	11	281225	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08		281225	134725291	79	47429											
NUP98	4928	broad.mit.edu	37	chr11	3727721	3727721	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaagatgcaatatgtgttGaggcagacacaggttcctga	12	10	13	6	0	0	5	0	3	0	2	1	5	1	5	1	2	1	4	1	2	3	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:3727721G>C	ENST00000324932.7	-	21	3299	c.2879C>G	c.(2878-2880)tCa>tGa	p.S960*	NUP98_ENST00000355260.3_Nonsense_Mutation_p.S960*|NUP98_ENST00000359171.4_Nonsense_Mutation_p.S960*	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	977					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AATATGTGTTGAGGCAGACAC	0.423			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								4	127					0	0	0	0	C	3727721	G	C	3727721	4	2	266	1	0	0	0	0	0	1	0	0	10844	1294	45	2	2575	2	NUP98	11	3727721	Nonsense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	3446496	3727721	131278795	80	47430											
PSMA1	5682	broad.mit.edu	37	chr11	14540580	14540580	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacatcattgtcatactgaTttcgaaactaaaagtaaaag	17	12	6	6	1	2	2	2	2	0	0	3	3	2	2	0	0	2	1	0	0	6	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:14540580T>C	ENST00000396394.2	-	2	407	c.11A>G	c.(10-12)aAt>aGt	p.N4S	PSMA1_ENST00000530457.1_5'UTR|PSMA1_ENST00000396393.1_Missense_Mutation_p.N4S|PSMA1_ENST00000555531.1_Missense_Mutation_p.N4S|PSMA1_ENST00000418988.2_Missense_Mutation_p.N10S|PSMA1_ENST00000419365.2_Missense_Mutation_p.N4S	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	4					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						GTCATACTGATTTCGAAACTA	0.308													10	37					0	0	0	0	C	14540580	T	C	14540580	3	2	266	1	0	0	0	0	1	0	0	0	12745	1493	52	5	866	5	PSMA1	11	14540580	Missense_Mutation	SNP	T	TCGA-CV-6955-01A-11D-2012-08	10812859	14540580	120465936	81	47431											
LDHC	3948	broad.mit.edu	37	chr11	18467778	18467778	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctatgaaattatcaagctGaaggggtatacctcttgggc	11	11	11	8	0	2	2	1	2	1	0	2	2	2	2	2	3	2	2	2	3	7	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:18467778G>A	ENST00000541669.1	+	7	843	c.732G>A	c.(730-732)ctG>ctA	p.L244L	LDHC_ENST00000537486.1_Intron|LDHC_ENST00000280704.4_Silent_p.L244L|LDHC_ENST00000536880.1_Silent_p.L230L|LDHC_ENST00000544105.1_Intron|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000535809.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	244					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TTATCAAGCTGAAGGGGTATA	0.373													6	78					0	0	0	0	A	18467778	G	A	18467778	2	1	266	1	0	0	0	0	0	0	0	1	8755	1277	45	2		2	LDHC	11	18467778	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08	3927198	18467778	116538738	82	47432											
OR4C6	219432	broad.mit.edu	37	chr11	55432901	55432901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagacaccctctccaagAgcactaccatctctctcaaa	12	10	4	15	0	3	2	1	0	3	2	6	2	3	2	3	0	2	2	3	0	4	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:55432901A>G	ENST00000314259.3	+	1	288	c.259A>G	c.(259-261)Agc>Ggc	p.S87G		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCTCTCCAAGAGCACTACCAT	0.493													3	82					0	0	0	0	G	55432901	A	G	55432901	3	3	266	1	0	0	0	0	1	0	0	0	11123	304	11	5	261	5	OR4C6	11	55432901	Missense_Mutation	SNP	A	TCGA-CV-6955-01A-11D-2012-08	36965123	55432901	79573615	83	47433											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451310	110451310	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggaaaagtttcacgtgatttCcttcactaccagacaagctt	12	12	7	10	1	2	2	2	1	0	1	3	3	3	3	2	1	2	2	2	1	4	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:110451310C>G	ENST00000260283.4	-	16	2644	c.2360G>C	c.(2359-2361)gGa>gCa	p.G787A	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G751A|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G764A|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G761A|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.G330A|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G761A|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G751A	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	787					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CACGTGATTTCCTTCACTACC	0.413													5	97					0	0	0	0	G	110451310	C	G	110451310	3	3	266	1	0	0	0	0	1	0	0	0	872	855	30	2	1219	2	ARHGAP20	11	110451310	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	55018409	110451310	24555206	84	47434											
KCNJ8	3764	broad.mit.edu	37	chr12	21919137	21919137	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaatcacgtggcagatgatCaaaggggccaccagaaaaat	16	6	10	9	1	3	3	3	1	0	2	3	3	3	3	2	3	0	1	2	3	4	0			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:21919137C>G	ENST00000240662.2	-	3	1140	c.795G>C	c.(793-795)ttG>ttC	p.L265F	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	265						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GGCAGATGATCAAAGGGGCCA	0.478													15	34					0	0	0	0	G	21919137	C	G	21919137	3	3	266	1	0	0	0	0	1	0	0	0	8109	825	29	2	483	2	KCNJ8	12	21919137	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08		21919137	111932758	85	47435											
FAR2	55711	broad.mit.edu	37	chr12	29486610	29486610	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatactgccctcttccttatCgcctggcgccttctcattgc	5	14	6	16	2	2	0	1	0	2	0	5	0	3	0	4	1	3	0	4	1	3	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:29486610C>T	ENST00000182377.4	+	12	1699	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	FAR2_ENST00000547116.1_Silent_p.I380I|FAR2_ENST00000536681.2_Silent_p.I477I	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	477					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCTTCCTTATCGCCTGGCGCC	0.428													12	185					0	0	0	0	T	29486610	C	T	29486610	2	4	266	1	0	0	0	0	0	0	0	1	5720	874	31	1		1	FAR2	12	29486610	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08	7567473	29486610	104365285	86	47436											
SOAT2	8435	broad.mit.edu	37	chr12	53509201	53509201	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggagtttgacctactgatCttcagcttcggacagctgcc	7	12	10	12	1	2	2	1	2	1	0	3	4	2	4	2	2	4	3	2	2	1	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:53509201C>T	ENST00000301466.3	+	6	531	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	157					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						ACCTACTGATCTTCAGCTTCG	0.582													3	42					0	0	0	0	T	53509201	C	T	53509201	2	4	266	1	0	0	0	0	0	0	0	1	14999	903	32	2		2	SOAT2	12	53509201	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08	24022591	53509201	80342694	87	47437											
ACACB	32	broad.mit.edu	37	chr12	109684111	109684111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctggagaggaccttctgtAcctgcgggcatccgagatgg	7	8	14	12	2	1	2	0	0	1	2	2	5	2	3	4	4	2	2	4	4	1	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:109684111A>G	ENST00000338432.7	+	39	5548	c.5429A>G	c.(5428-5430)tAc>tGc	p.Y1810C	ACACB_ENST00000543201.1_Missense_Mutation_p.Y476C|ACACB_ENST00000377848.3_Missense_Mutation_p.Y1810C|ACACB_ENST00000377854.5_Missense_Mutation_p.Y1740C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1810	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GACCTTCTGTACCTGCGGGCA	0.562													4	107					0	0	0	0	G	109684111	A	G	109684111	3	3	266	1	0	0	0	0	1	0	0	0	107	391	14	5	5579	5	ACACB	12	109684111	Missense_Mutation	SNP	A	TCGA-CV-6955-01A-11D-2012-08	56174910	109684111	24167784	88	47438											
CIT	11113	broad.mit.edu	37	chr12	120166409	120166409	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttcttctccaggtcattGagctagacatttggaaagat	10	14	9	8	0	3	3	1	1	2	2	4	4	3	4	1	2	2	2	1	2	2	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:120166409G>C	ENST00000392521.2	-	28	3544	c.3489C>G	c.(3487-3489)ctC>ctG	p.L1163L	CIT_ENST00000261833.7_Silent_p.L1121L|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1121	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCAGGTCATTGAGCTAGACAT	0.438													7	143					0	0	0	0	C	120166409	G	C	120166409	2	2	266	1	0	0	0	0	0	0	0	1	3468	1277	45	2		2	CIT	12	120166409	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08	10482298	120166409	13685486	89	47439											
LNX2	222484	broad.mit.edu	37	chr13	28136648	28136648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttagcctgccgtcctgggCagccaaccccccttccaaca	7	7	8	19	1	0	0	0	0	0	0	2	0	2	0	8	1	5	2	8	1	3	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr13:28136648C>A	ENST00000316334.3	-	5	1255	c.1126G>T	c.(1126-1128)Gcc>Tcc	p.A376S		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	376	PDZ 2.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CCGTCCTGGGCAGCCAACCCC	0.532													20	150					1.1804e-14	1.42967e-14	1	0	A	28136648	C	A	28136648	3	1	266	1	0	0	0	0	1	0	0	0	8921	710	25	4	970	4	LNX2	13	28136648	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08		28136648	87033230	90	47440											
FLT3	2322	broad.mit.edu	37	chr13	28609671	28609671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtctcacaagatgtgccaaGggaattgtatgcacagcact	12	9	10	10	1	1	1	1	0	1	1	2	2	1	2	1	1	3	3	1	1	4	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr13:28609671G>C	ENST00000380982.4	-	12	1639	c.1558C>G	c.(1558-1560)Ctt>Gtt	p.L520V	FLT3_ENST00000537084.1_Missense_Mutation_p.L520V|FLT3_ENST00000241453.7_Missense_Mutation_p.L520V			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	520					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.L520I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GATGTGCCAAGGGAATTGTAT	0.453			"Mis, O"		"AML, ALL"								5	84					0	0	0	0	C	28609671	G	C	28609671	3	2	266	1	0	0	0	0	1	0	0	0	5987	1000	35	4	1475	4	FLT3	13	28609671	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	473023	28609671	86560207	91	47441											
ZC3H13	23091	broad.mit.edu	37	chr13	46559752	46559752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagtctcttagttcccttCggtccctagtatctctggca	5	15	9	12	1	2	0	0	0	2	0	7	1	4	1	2	3	0	3	2	3	3	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr13:46559752C>T	ENST00000242848.4	-	10	1748	c.1400G>A	c.(1399-1401)cGa>cAa	p.R467Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R467Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	467	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TAGTTCCCTTCGGTCCCTAGT	0.507													12	181					0	0	0	0	T	46559752	C	T	46559752	3	4	266	1	0	0	0	0	1	0	0	0	17660	884	31	1	3326	1	ZC3H13	13	46559752	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	17950081	46559752	68610126	92	47442											
NEK5	341676	broad.mit.edu	37	chr13	52660423	52660423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatttacctctggttctCtccccatcttctttctaatt	7	19	3	12	0	5	1	0	1	5	0	7	1	6	1	3	1	1	1	3	1	3	7			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr13:52660423C>A	ENST00000355568.4	-	16	1608	c.1469G>T	c.(1468-1470)aGa>aTa	p.R490I		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	490							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTCTGGTTCTCTCCCCATCTT	0.363													13	42					0.000151284	0.000171514	1	0	A	52660423	C	A	52660423	3	1	266	1	0	0	0	0	1	0	0	0	10397	913	32	2	685	2	NEK5	13	52660423	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	6100671	52660423	62509455	93	47443											
CHD8	57680	broad.mit.edu	37	chr14	21870656	21870656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccaattcgatgacatcgtgCctgggcctggtttaaaataa	11	11	9	10	2	0	1	0	1	0	0	2	2	0	1	3	2	1	1	3	2	4	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:21870656C>T	ENST00000399982.2	-	18	3785	c.3721G>A	c.(3721-3723)Gca>Aca	p.A1241T	CHD8_ENST00000430710.3_Missense_Mutation_p.A962T|CHD8_ENST00000557364.1_Missense_Mutation_p.A1241T|CHD8_ENST00000555962.1_5'UTR	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1241	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGACATCGTGCCTGGGCCTGG	0.413													17	26					0	0	0	0	T	21870656	C	T	21870656	3	4	266	1	0	0	0	0	1	0	0	0	3360	739	26	4	4104	4	CHD8	14	21870656	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08		21870656	85478884	94	47444											
COCH	1690	broad.mit.edu	37	chr14	31358870	31358870	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcacctctggatgaccTgaaagatatggcttctaaac	11	11	10	9	0	2	3	0	2	2	1	2	4	2	4	2	3	1	2	2	3	4	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:31358870T>G	ENST00000460581.2	+	10	1736	c.1190T>G	c.(1189-1191)cTg>cGg	p.L397R	COCH_ENST00000216361.4_Missense_Mutation_p.L509R|RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000475087.1_Intron|COCH_ENST00000396618.3_Missense_Mutation_p.L509R|COCH_ENST00000382493.4_Missense_Mutation_p.L360R			O43405	COCH_HUMAN	cochlin	509	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CTGGATGACCTGAAAGATATG	0.388													7	39					0	0	0	0	G	31358870	T	G	31358870	3	3	266	1	0	0	0	0	1	0	0	0	3686	1580	55	5	1568	5	COCH	14	31358870	Missense_Mutation	SNP	T	TCGA-CV-6955-01A-11D-2012-08	9488214	31358870	75990670	95	47445											
FSCB	84075	broad.mit.edu	37	chr14	44975153	44975153	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcagaatttcagccagAagctctacagaaggagactc	14	6	12	9	0	2	4	1	0	1	4	3	6	2	5	1	3	3	2	1	3	4	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:44975153A>T	ENST00000340446.4	-	1	1329	c.1038T>A	c.(1036-1038)ctT>ctA	p.L346L		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	346	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTTCAGCCAGAAGCTCTACAG	0.507													13	111					0	0	0	0	T	44975153	A	T	44975153	2	4	266	1	0	0	0	0	0	0	0	1	6114	233	9	5		5	FSCB	14	44975153	Silent	SNP	A	TCGA-CV-6955-01A-11D-2012-08	13616283	44975153	62374387	96	47446											
AHNAK2	113146	broad.mit.edu	37	chr14	105411954	105411954	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacttggctcctggggcctcGacgtccacctccatgctggg	5	9	12	15	2	0	0	0	0	0	0	4	1	3	0	5	4	2	2	5	4	1	1			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:105411954G>A	ENST00000333244.5	-	7	9953	c.9834C>T	c.(9832-9834)gtC>gtT	p.V3278V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3278						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGGGGCCTCGACGTCCACCT	0.607													30	234					0	0	0	0	A	105411954	G	A	105411954	2	1	266	1	0	0	0	0	0	0	0	1	415	1045	37	1		1	AHNAK2	14	105411954	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08	60436801	105411954	1937586	97	47447											
THBS1	7057	broad.mit.edu	37	chr15	39881288	39881288	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgcacagatgttgatgagGtgaggaactgatggggctcc	10	9	16	6	0	0	5	0	4	0	1	1	6	1	6	1	4	2	3	1	4	1	1			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr15:39881288G>A	ENST00000260356.5	+	11	1938		c.e11+1			NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1						activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGTTGATGAGGTGAGGAACTG	0.517													6	136					0	0	0	0	A	39881288	G	A	39881288	5	1	266	1	0	0	0	0	0	0	1	0	15947	1275	44	4	1812	4	THBS1	15	39881288	Splice_Site	SNP	G	TCGA-CV-6955-01A-11D-2012-08		39881288	62650104	98	47448											
MGA	23269	broad.mit.edu	37	chr15	42059359	42059359	+	Frame_Shift_Del	DEL	A	A	-																															aagttgggtcagttggacacAaaatgaacttaacagggaat																										TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr15:42059359delA	ENST00000219905.7	+	24	9260	c.9079delA	c.(9079-9081)aafs	p.K3027fs	MGA_ENST00000570161.1_Frame_Shift_Del_p.K3027fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.K2818fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.K2988fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.K2818fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2988						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGTTGGACACAAAATGAACTT	0.493													28	92	---	---	---	---					-	42059359	A	-	42059359	7	5	266	1	0	1	0	1	0	0	0	0	9609	131	5	0	9169	0	MGA	15	42059359	Frame_Shift_Del	DEL	A	TCGA-CV-6955-01A-11D-2012-08	2178071	42059359	60472033	99	47449											
ZSCAN2	54993	broad.mit.edu	37	chr15	85163919	85163919	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatattctcggaaatgcctGaaggtgaaagtgctcagcac	13	9	11	8	1	2	3	1	2	1	1	3	4	2	4	1	2	3	2	1	2	4	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr15:85163919G>C	ENST00000448803.2	+	3	785	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E15Q|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.E165Q|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E164Q|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E165Q|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.E165Q|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.E165Q	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	165					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GGAAATGCCTGAAGGTGAAAG	0.473													6	119					0	0	0	0	C	85163919	G	C	85163919	3	2	266	1	0	0	0	0	1	0	0	0	18323	1291	45	2	589	2	ZSCAN2	15	85163919	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	43104560	85163919	17367473	100	47450											
IQGAP1	8826	broad.mit.edu	37	chr15	91020962	91020962	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttattaaaatggttgtaaGtttcaaccgtggtgcccgtg	9	14	12	6	2	1	0	1	0	0	0	1	0	1	0	2	3	2	4	2	3	5	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr15:91020962G>C	ENST00000268182.5	+	26	3294	c.3170G>C	c.(3169-3171)aGt>aCt	p.S1057T	IQGAP1_ENST00000560738.1_Missense_Mutation_p.S485T	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1057	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATGGTTGTAAGTTTCAACCGT	0.408													5	55					0	0	0	0	C	91020962	G	C	91020962	3	2	266	1	0	0	0	0	1	0	0	0	7867	1029	36	4	3272	4	IQGAP1	15	91020962	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	5857043	91020962	11510430	101	47451											
ARRDC4	91947	broad.mit.edu	37	chr15	98512388	98512388	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgcagaaatagaaaatTgttcctctcgtctgattgtt	11	16	7	7	1	3	3	0	1	3	2	5	3	4	3	1	0	1	3	1	0	5	6			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr15:98512388T>C	ENST00000268042.6	+	5	825	c.661T>C	c.(661-663)Tgt>Cgt	p.C221R	ARRDC4_ENST00000538249.1_Missense_Mutation_p.C134R	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	221					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			AATAGAAAATTGTTCCTCTCG	0.393													15	43					0	0	0	0	C	98512388	T	C	98512388	3	2	266	1	0	0	0	0	1	0	0	0	989	1812	63	5	679	5	ARRDC4	15	98512388	Missense_Mutation	SNP	T	TCGA-CV-6955-01A-11D-2012-08	7491426	98512388	4019004	102	47452											
NDUFB10	4716	broad.mit.edu	37	chr16	2011519	2011519	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagtcgaccaagaaattatCaacattatgcaggatcggct	16	9	8	8	2	1	1	1	0	0	1	3	3	1	2	1	2	2	2	1	2	6	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:2011519C>G	ENST00000543683.2	+	3	373	c.291C>G	c.(289-291)atC>atG	p.I97M	NDUFB10_ENST00000268668.6_Missense_Mutation_p.I97M|NDUFB10_ENST00000569148.1_Missense_Mutation_p.I86M			O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	97					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	AAGAAATTATCAACATTATGC	0.473													6	192					0	0	0	0	G	2011519	C	G	2011519	3	3	266	1	0	0	0	0	1	0	0	0	10349	816	29	2	301	2	NDUFB10	16	2011519	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08		2011519	88343234	103	47453											
C16orf45	89927	broad.mit.edu	37	chr16	15677026	15677026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacagggagcaagaagaaGacaaggaaatggctgatttc	16	7	12	6	0	1	4	1	1	0	3	2	6	1	6	0	3	1	2	0	3	5	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:15677026G>A	ENST00000300006.4	+	5	792	c.433G>A	c.(433-435)Gac>Aac	p.D145N	C16orf45_ENST00000561692.1_Missense_Mutation_p.D97N|C16orf45_ENST00000566490.1_Intron|C16orf45_ENST00000452191.2_Missense_Mutation_p.D128N|C16orf45_ENST00000565913.1_3'UTR	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	145										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GCAAGAAGAAGACAAGGAAAT	0.388													17	104					0	0	0	0	A	15677026	G	A	15677026	3	1	266	1	0	0	0	0	1	0	0	0	1827	942	33	2	510	2	C16orf45	16	15677026	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	13665507	15677026	74677727	104	47454											
RBBP6	5930	broad.mit.edu	37	chr16	24552017	24552017	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctttgatgggctccacAtctccctctgcgacttaaag	8	12	7	14	1	3	1	1	1	2	0	5	2	4	1	3	1	1	1	3	1	2	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:24552017A>G	ENST00000319715.4	+	1	502	c.70A>G	c.(70-72)Atc>Gtc	p.I24V	RBBP6_ENST00000348022.2_Missense_Mutation_p.I24V|RBBP6_ENST00000381039.3_Missense_Mutation_p.I24V|RBBP6_ENST00000452655.2_Missense_Mutation_p.I24V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	24	DWNN.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TGGGCTCCACATCTCCCTCTG	0.483													14	59					0	0	0	0	G	24552017	A	G	24552017	3	3	266	1	0	0	0	0	1	0	0	0	13185	217	8	5	72	5	RBBP6	16	24552017	Missense_Mutation	SNP	A	TCGA-CV-6955-01A-11D-2012-08	8874991	24552017	65802736	105	47455											
ZNF48	197407	broad.mit.edu	37	chr16	30410135	30410135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcggccacataacccacctGgcccagtacccatggcccct	8	6	8	19	1	0	0	0	0	0	0	0	0	0	0	7	3	3	1	7	3	2	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:30410135G>T	ENST00000320159.2	+	2	1940	c.1564G>T	c.(1564-1566)Ggc>Tgc	p.G522C		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	522	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						TAACCCACCTGGCCCAGTACC	0.677													5	110					0.00116845	0.00129458	1	0	T	30410135	G	T	30410135	3	4	266	1	0	0	0	0	1	0	0	0	18029	1348	47	4	1570	4	ZNF48	16	30410135	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	5858118	30410135	59944618	106	47456											
NLRC5	84166	broad.mit.edu	37	chr16	57101666	57101666	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttgtctcaggttaacctCtgtgaggacgatgatgccag	9	11	12	9	1	2	2	1	2	2	0	3	4	2	3	2	2	3	2	2	2	1	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:57101666C>T	ENST00000436936.1	+	36	4650	c.4425C>T	c.(4423-4425)ctC>ctT	p.L1475L	NLRC5_ENST00000262510.6_Silent_p.L1475L|NLRC5_ENST00000539144.1_Silent_p.L1446L|NLRC5_ENST00000308149.7_Silent_p.L1446L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1475					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGTTAACCTCTGTGAGGACG	0.507													5	79					0	0	0	0	T	57101666	C	T	57101666	2	4	266	1	0	0	0	0	0	0	0	1	10540	900	32	2		2	NLRC5	16	57101666	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08	26691531	57101666	33253087	107	47457											
EDC4	23644	broad.mit.edu	37	chr16	67913808	67913808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagtaGcagcagctcccttacagctg	11	5	11	14	0	0	0	0	0	0	0	1	0	1	0	1	0	10	10	1	0	2	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:67913808G>T	ENST00000358933.5	+	16	2116	c.1877G>T	c.(1876-1878)aGc>aTc	p.S626I		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	626	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		agcagcagtagcagcagcTCC	0.607													20	49					5.35267e-07	6.28777e-07	1	0	T	67913808	G	T	67913808	3	4	266	1	0	0	0	0	1	0	0	0	4944	971	34	4	1939	4	EDC4	16	67913808	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	10812142	67913808	22440945	108	47458											
HYDIN	54768	broad.mit.edu	37	chr16	70867859	70867859	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtctgatacaccacgggtCcaaagggaatatgttcctgg	10	9	12	10	2	1	1	0	1	1	0	3	2	3	2	3	3	1	1	3	3	4	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:70867859C>A	ENST00000393567.2	-	79	13760	c.13610G>T	c.(13609-13611)gGa>gTa	p.G4537V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4537										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CACCACGGGTCCAAAGGGAAT	0.587													7	11					2.17888e-05	2.48468e-05	1	0	A	70867859	C	A	70867859	3	1	266	1	0	0	0	0	1	0	0	0	7520	855	30	2	1787	2	HYDIN	16	70867859	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	2954051	70867859	19486894	109	47459											
MYO1C	4641	broad.mit.edu	37	chr17	1387008	1387008	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgacagagaccaggacgggGccaatgtaggtctgggatcg	10	7	16	8	2	1	2	0	1	1	1	2	5	1	4	2	5	0	1	2	5	2	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:1387008G>A	ENST00000359786.5	-	3	567	c.243C>T	c.(241-243)ggC>ggT	p.G81G	MYO1C_ENST00000361007.2_Silent_p.G46G|MYO1C_ENST00000545534.2_Silent_p.G57G|MYO1C_ENST00000438665.2_Silent_p.G62G|MYO1C_ENST00000575158.1_Silent_p.G46G	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	81	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCAGGACGGGGCCAATGTAGG	0.592													3	16					0	0	0	0	A	1387008	G	A	1387008	2	1	266	1	0	0	0	0	0	0	0	1	10140	1190	42	4		4	MYO1C	17	1387008	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08		1387008	79808202	110	47460											
PRPF8	10594	broad.mit.edu	37	chr17	1562841	1562841	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggtgctgtccatcacatCcctgaggatgaagagggttc	8	10	14	9	0	1	3	1	2	0	1	4	4	3	4	2	4	1	2	2	4	1	1			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:1562841C>A	ENST00000572621.1	-	31	5213	c.4946_splice	c.e31-1	p.D1650_splice	PRPF8_ENST00000304992.6_Splice_Site_p.D1650_splice			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1650						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCCATCACATCCCTGAGGATG	0.527													9	78					0.000274275	0.000305621	1	0	A	1562841	C	A	1562841	5	1	266	1	0	0	0	0	0	0	1	0	12655	869	30	2	2107	2	PRPF8	17	1562841	Splice_Site	SNP	C	TCGA-CV-6955-01A-11D-2012-08	175833	1562841	79632369	111	47461											
MYOCD	93649	broad.mit.edu	37	chr17	12666526	12666526	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcctcttcaggcagccagatCccctttgatccctatgccac	7	10	7	17	0	2	2	1	1	1	1	4	2	4	2	6	1	2	1	6	1	1	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:12666526C>G	ENST00000425538.1	+	14	2726	c.2526C>G	c.(2524-2526)atC>atG	p.I842M	MYOCD_ENST00000343344.4_Missense_Mutation_p.I794M|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	794					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCAGCCAGATCCCCTTTGATC	0.483													6	110					0	0	0	0	G	12666526	C	G	12666526	3	3	266	1	0	0	0	0	1	0	0	0	10157	845	30	2	2592	2	MYOCD	17	12666526	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	11103685	12666526	68528684	112	47462											
SREBF1	6720	broad.mit.edu	37	chr17	17718569	17718569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacccagggctggggttggGctgggtcacacagttcagtg	6	9	17	9	0	2	1	2	1	0	0	2	1	2	1	1	5	0	4	1	5	0	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:17718569G>A	ENST00000355815.4	-	14	2717	c.2548C>T	c.(2548-2550)Ccc>Tcc	p.P850S	SREBF1_ENST00000395757.1_Missense_Mutation_p.P566S|SREBF1_ENST00000338854.5_Missense_Mutation_p.P820S|SREBF1_ENST00000261646.5_Missense_Mutation_p.P820S	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	820					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTGGGGTTGGGCTGGGTCACA	0.617													8	104					0	0	0	0	A	17718569	G	A	17718569	3	1	266	1	0	0	0	0	1	0	0	0	15231	1203	42	4	1013	4	SREBF1	17	17718569	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	5052043	17718569	63476641	113	47463											
KIAA0100	9703	broad.mit.edu	37	chr17	26948139	26948139	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggcagttgcaacgcgaaatGatccgctggacttgctgggc	8	8	14	11	4	0	1	0	1	0	0	1	3	1	2	1	3	3	5	1	3	2	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:26948139G>A	ENST00000528896.2	-	28	5183	c.5109C>T	c.(5107-5109)atC>atT	p.I1703I	KIAA0100_ENST00000544884.1_Silent_p.I1560I|KIAA0100_ENST00000389003.3_Silent_p.I1560I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1703						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AACGCGAAATGATCCGCTGGA	0.448													4	64					0	0	0	0	A	26948139	G	A	26948139	2	1	266	1	0	0	0	0	0	0	0	1	8205	1280	45	2		2	KIAA0100	17	26948139	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08	9229570	26948139	54247071	114	47464											
AOC3	8639	broad.mit.edu	37	chr17	41004139	41004139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaccctgcccgctggaCtatccagaaggtgttctatc	7	11	9	14	1	1	2	0	1	1	1	3	3	2	3	4	2	1	2	4	2	3	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:41004139C>T	ENST00000308423.2	+	1	939	c.779C>T	c.(778-780)aCt>aTt	p.T260I		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	260					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GCCCGCTGGACTATCCAGAAG	0.597													9	40					0	0	0	0	T	41004139	C	T	41004139	3	4	266	1	0	0	0	0	1	0	0	0	729	565	20	4	781	4	AOC3	17	41004139	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	14056000	41004139	40191071	115	47465											
GPATCH8	23131	broad.mit.edu	37	chr17	42475597	42475597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggatccccactgggaggtGcataactggggaaatgctca	11	8	13	9	0	1	0	1	0	0	0	2	3	2	3	2	5	3	2	2	5	3	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:42475597G>A	ENST00000434000.1	-	9	3896	c.3614C>T	c.(3613-3615)gCa>gTa	p.A1205V	GPATCH8_ENST00000591680.1_Missense_Mutation_p.A1283V			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1283						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACTGGGAGGTGCATAACTGGG	0.592													7	177					0	0	0	0	A	42475597	G	A	42475597	3	1	266	1	0	0	0	0	1	0	0	0	6643	1319	46	4	664	4	GPATCH8	17	42475597	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	1471458	42475597	38719613	116	47466											
DNAH17	8632	broad.mit.edu	37	chr17	76506502	76506502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttcacggccttgtccacGatgttgcggacctcatcctc	5	12	8	16	3	2	0	2	0	0	0	6	2	5	1	5	2	1	1	5	2	0	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:76506502G>A	ENST00000389840.5	-	27	4312	c.4188C>T	c.(4186-4188)atC>atT	p.I1396I	DNAH17_ENST00000585328.1_Silent_p.I1397I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTTGTCCACGATGTTGCGGA	0.532													7	199					0	0	0	0	A	76506502	G	A	76506502	2	1	266	1	0	0	0	0	0	0	0	1	4638	1048	37	1		1	DNAH17	17	76506502	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08	34030905	76506502	4688708	117	47467											
SIRT7	51547	broad.mit.edu	37	chr17	79872320	79872320	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacacttgtggcaggtccgGcctgtctggtgtctgtggag	4	11	15	11	1	2	0	0	0	2	0	3	1	3	1	3	5	0	1	3	5	0	1			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:79872320G>A	ENST00000328666.6	-	7	728	c.666C>T	c.(664-666)ggC>ggT	p.G222G		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	222	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGCAGGTCCGGCCTGTCTGGT	0.632													9	28					0	0	0	0	A	79872320	G	A	79872320	2	1	266	1	0	0	0	0	0	0	0	1	14431	1190	42	4		4	SIRT7	17	79872320	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08	3365818	79872320	1322890	118	47468											
UTS2R	2837	broad.mit.edu	37	chr17	80332288	80332288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccgcctggcggccccaacGcaaccctcaacagctcctgg	8	4	10	19	3	1	0	1	0	0	0	2	0	2	0	6	3	5	2	6	3	3	0			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:80332288G>A	ENST00000313135.2	+	1	136	c.88G>A	c.(88-90)Gca>Aca	p.A30T		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	30						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CGGCCCCAACGCAACCCTCAA	0.711													3	14					0	0	0	0	A	80332288	G	A	80332288	3	1	266	1	0	0	0	0	1	0	0	0	17202	1087	38	1	90	1	UTS2R	17	80332288	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	459968	80332288	862922	119	47469											
DPP9	91039	broad.mit.edu	37	chr19	4704050	4704050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgggtcttgatttccagcGgtttcataggggacacctga	8	12	12	9	1	2	2	1	2	1	0	3	3	3	3	2	4	1	1	2	4	1	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:4704050G>A	ENST00000262960.9	-	7	894	c.617C>T	c.(616-618)cCg>cTg	p.P206L	DPP9_ENST00000594671.1_Missense_Mutation_p.P177L|DPP9_ENST00000598800.1_Missense_Mutation_p.P177L|DPP9_ENST00000597849.1_Missense_Mutation_p.P206L	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	177					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GATTTCCAGCGGTTTCATAGG	0.632													8	41					0	0	0	0	A	4704050	G	A	4704050	3	1	266	1	0	0	0	0	1	0	0	0	4769	1116	39	1	2125	1	DPP9	19	4704050	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08		4704050	54424933	120	47470											
MYO9B	4650	broad.mit.edu	37	chr19	17294679	17294680	+	Splice_Site	INS	-	-	A																															aagcagatcattccaaaggtINSaaaaaaaaaaacacaccccg																										TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr19:17294679_17294680insA	ENST00000595618.1	+	16	2525		c.e16+2		MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000594824.1_Splice_Site	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.?(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATTCCAAAGGTAAAAAAAAAAA	0.411													3	4	---	---	---	---					A	17294680	-	A	17294679	8	5	266	1	0	1	1	0	0	0	1	0	10155	1652	57	0	2433	0	MYO9B	19	17294679	Splice_Site	INS	-	TCGA-CV-6955-01A-11D-2012-08	12590629	17294679	41834304	121	47471											
HOMER3	9454	broad.mit.edu	37	chr19	19042181	19042181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcggcagcctccagggcctCgcggggccccccagtctgac	4	5	13	19	3	1	1	0	1	1	0	4	1	2	1	6	4	1	1	6	4	0	0			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:19042181C>T	ENST00000539827.1	-	8	1499	c.847G>A	c.(847-849)Gag>Aag	p.E283K	HOMER3_ENST00000594439.1_Missense_Mutation_p.E247K|HOMER3_ENST00000355887.6_Missense_Mutation_p.E283K|HOMER3_ENST00000542541.2_Missense_Mutation_p.E283K|HOMER3_ENST00000392351.3_Missense_Mutation_p.E283K|HOMER3_ENST00000221222.11_Missense_Mutation_p.E283K|HOMER3_ENST00000433218.2_Missense_Mutation_p.E283K|HOMER3_ENST00000594794.1_Missense_Mutation_p.E74K|AC002985.3_ENST00000596918.1_3'UTR			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	283					metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	p.E283*(1)		endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TCCAGGGCCTCGCGGGGCCCC	0.627													6	99					0	0	0	0	T	19042181	C	T	19042181	3	4	266	1	0	0	0	0	1	0	0	0	7330	893	31	1	246	1	HOMER3	19	19042181	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	1747502	19042181	40086802	122	47472											
ZNF527	84503	broad.mit.edu	37	chr19	37880095	37880095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatcagagaattcacacaGgtgagaaaccatatgaatgt	18	8	8	7	0	2	3	2	2	0	2	2	5	2	3	1	1	2	0	1	1	5	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:37880095G>T	ENST00000436120.2	+	5	1251	c.1144G>T	c.(1144-1146)Ggt>Tgt	p.G382C	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTCACACAGGTGAGAAACC	0.433													8	38					1.12685e-05	1.30021e-05	1	0	T	37880095	G	T	37880095	3	4	266	1	0	0	0	0	1	0	0	0	18063	1000	35	4	1158	4	ZNF527	19	37880095	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	18837914	37880095	21248888	123	47473											
PSG1	5669	broad.mit.edu	37	chr19	43382262	43382262	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctactacatatgatgtaatgTaatggtagaggtccctcatt	12	14	8	7	0	1	2	1	1	0	1	2	2	2	2	1	2	2	3	1	2	6	7			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:43382262T>C	ENST00000244296.2	-	2	370	c.233A>G	c.(232-234)tAc>tGc	p.Y78C	PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Missense_Mutation_p.Y78C|PSG1_ENST00000436291.2_Missense_Mutation_p.Y78C|PSG1_ENST00000403380.3_Missense_Mutation_p.Y78C|PSG1_ENST00000312439.6_Missense_Mutation_p.Y78C|PSG1_ENST00000595124.1_Missense_Mutation_p.Y78C	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGATGTAATGTAATGGTAGAG	0.433													63	268					0	0	0	0	C	43382262	T	C	43382262	3	2	266	1	0	0	0	0	1	0	0	0	12732	1638	57	5	1099	5	PSG1	19	43382262	Missense_Mutation	SNP	T	TCGA-CV-6955-01A-11D-2012-08	5502167	43382262	15746721	124	47474											
TEX101	83639	broad.mit.edu	37	chr19	43920038	43920038	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatcaaattcacagatccaGaccagctcctcccagacctc	12	7	4	18	0	2	3	2	0	0	3	6	3	5	3	6	0	1	1	6	0	1	1			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:43920038G>C	ENST00000602198.1	+	4	463	c.21G>C	c.(19-21)caG>caC	p.Q7H	TEX101_ENST00000253435.7_Missense_Mutation_p.Q7H|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_5'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	0						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CACAGATCCAGACCAGCTCCT	0.527													10	241					0	0	0	0	C	43920038	G	C	43920038	3	2	266	1	0	0	0	0	1	0	0	0	15867	933	33	2	27	2	TEX101	19	43920038	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	537776	43920038	15208945	125	47475											
ZNF471	57573	broad.mit.edu	37	chr19	57037232	57037232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacactggccaaaggccctAtcagtgttttgaatgtggga	10	10	11	10	0	1	1	1	1	0	0	1	2	1	2	3	3	0	1	3	3	3	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:57037232A>G	ENST00000308031.5	+	5	1929	c.1796A>G	c.(1795-1797)tAt>tGt	p.Y599C	ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CAAAGGCCCTATCAGTGTTTT	0.413													10	42					0	0	0	0	G	57037232	A	G	57037232	3	3	266	1	0	0	0	0	1	0	0	0	18025	449	16	5	1810	5	ZNF471	19	57037232	Missense_Mutation	SNP	A	TCGA-CV-6955-01A-11D-2012-08	13117194	57037232	2091751	126	47476											
PEG3	5178	broad.mit.edu	37	chr19	57327549	57327549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggttttcataggggttaGagctaatggtgaacgccttt	8	15	12	6	1	2	2	1	1	1	1	2	2	2	2	1	4	2	3	1	4	4	6			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:57327549G>A	ENST00000326441.9	-	10	2624	c.2261C>T	c.(2260-2262)tCt>tTt	p.S754F	PEG3_ENST00000593695.1_Missense_Mutation_p.S628F|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S754F|PEG3_ENST00000598410.1_Missense_Mutation_p.S630F|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	754					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATAGGGGTTAGAGCTAATGGT	0.413													10	164					0	0	0	0	A	57327549	G	A	57327549	3	1	266	1	0	0	0	0	1	0	0	0	11791	942	33	2	2509	2	PEG3	19	57327549	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	290317	57327549	1801434	127	47477											
ZNF831	128611	broad.mit.edu	37	chr20	57766493	57766493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcccaggcaaggtgcggaAtgcgggcaagtacctgtgtc	9	6	15	11	2	0	0	0	0	0	0	1	1	0	1	2	4	4	3	2	4	4	1			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr20:57766493A>G	ENST00000371030.2	+	1	419	c.419A>G	c.(418-420)aAt>aGt	p.N140S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	140						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGGTGCGGAATGCGGGCAAG	0.672													3	83					0	0	0	0	G	57766493	A	G	57766493	3	3	266	1	0	0	0	0	1	0	0	0	18278	101	4	5	421	5	ZNF831	20	57766493	Missense_Mutation	SNP	A	TCGA-CV-6955-01A-11D-2012-08		57766493	5259027	128	47478											
DIDO1	11083	broad.mit.edu	37	chr20	61542619	61542619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctggtctcagaagcgctttCcacgctgccctcggaggctg	5	10	12	14	3	2	1	1	0	2	1	5	2	3	2	2	3	2	3	2	3	1	1			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr20:61542619C>T	ENST00000266070.4	-	3	671	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E116K|DIDO1_ENST00000266071.5_Missense_Mutation_p.E116K|DIDO1_ENST00000354665.4_Missense_Mutation_p.E116K|DIDO1_ENST00000370371.4_Missense_Mutation_p.E116K|DIDO1_ENST00000370366.1_Missense_Mutation_p.E116K|DIDO1_ENST00000370368.1_Missense_Mutation_p.E116K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E116K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E116K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	116					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAGCGCTTTCCACGCTGCCC	0.637													6	41					0	0	0	0	T	61542619	C	T	61542619	3	4	266	1	0	0	0	0	1	0	0	0	4559	864	30	2	6562	2	DIDO1	20	61542619	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	3776126	61542619	1482901	129	47479											
ARFGAP1	55738	broad.mit.edu	37	chr20	61914181	61914181	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcattttaggctacaaagtTtggatcccaagcgagtcaga	12	12	9	8	1	2	1	2	0	0	1	3	3	3	2	1	2	2	2	1	2	4	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr20:61914181T>G	ENST00000370275.4	+	9	787	c.695T>G	c.(694-696)tTt>tGt	p.F232C	ARFGAP1_ENST00000519604.1_Missense_Mutation_p.F179C|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.F119C|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.F232C|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.F158C|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.F232C			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	232					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GCTACAAAGTTTGGATCCCAA	0.507													15	42					0	0	0	0	G	61914181	T	G	61914181	3	3	266	1	0	0	0	0	1	0	0	0	851	1841	64	5	725	5	ARFGAP1	20	61914181	Missense_Mutation	SNP	T	TCGA-CV-6955-01A-11D-2012-08	371562	61914181	1111339	130	47480											
TMPRSS15	5651	broad.mit.edu	37	chr21	19704465	19704465	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttgtatttggctcccaCagctcaaaaggtcctccaca	11	11	7	12	0	1	0	1	0	0	0	4	0	4	0	3	2	1	4	3	2	4	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr21:19704465C>G	ENST00000284885.3	-	14	1623	c.1590G>C	c.(1588-1590)ctG>ctC	p.L530L		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	530	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGGCTCCCACAGCTCAAAAG	0.403													4	56					0	0	0	0	G	19704465	C	G	19704465	2	3	266	1	0	0	0	0	0	0	0	1	16340	465	17	4		4	TMPRSS15	21	19704465	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08		19704465	28425430	131	47481											
CECR5	27440	broad.mit.edu	37	chr22	17629399	17629399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catccgcttctcatggtactCggagaagagcttcatggggc	8	10	12	11	2	2	2	2	0	1	2	5	3	3	2	1	4	2	3	1	4	2	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr22:17629399C>T	ENST00000336737.4	-	3	407	c.382G>A	c.(382-384)Gag>Aag	p.E128K	CECR5_ENST00000480451.1_5'UTR|CECR5_ENST00000155674.5_Missense_Mutation_p.E98K|CECR5_ENST00000399852.3_Intron	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	128							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TCATGGTACTCGGAGAAGAGC	0.557													14	260					0	0	0	0	T	17629399	C	T	17629399	3	4	266	1	0	0	0	0	1	0	0	0	3236	893	31	1	913	1	CECR5	22	17629399	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08		17629399	33675167	132	47482											
SREBF2	6721	broad.mit.edu	37	chr22	42294718	42294718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagctggctccagggaGacgatgcagctgtgcgctct	7	8	13	13	2	2	1	1	0	1	1	3	3	3	1	2	2	4	5	2	2	0	0			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr22:42294718G>T	ENST00000361204.4	+	15	2837	c.2671G>T	c.(2671-2673)Gac>Tac	p.D891Y	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	891					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTCCAGGGAGACGATGCAGC	0.567													13	23					9.31168e-06	1.08082e-05	1	0	T	42294718	G	T	42294718	3	4	266	1	0	0	0	0	1	0	0	0	15232	942	33	2	2729	2	SREBF2	22	42294718	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	24665319	42294718	9009848	133	47483											
MPPED1	758	broad.mit.edu	37	chr22	43870809	43870809	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggactcggaggtcacCgtgcggggcttccggatcta	6	9	14	12	4	3	0	2	0	1	0	5	3	4	3	2	6	1	1	2	6	1	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr22:43870809C>T	ENST00000417669.1	+	4	1044	c.600C>T	c.(598-600)acC>acT	p.T200T	MPPED1_ENST00000542779.1_Silent_p.T200T|MPPED1_ENST00000443721.1_Silent_p.T200T|MPPED1_ENST00000439548.1_Silent_p.T42T|MPPED1_ENST00000414469.2_Silent_p.T94T|MPPED1_ENST00000538182.1_Silent_p.T233T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	200							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CGGAGGTCACCGTGCGGGGCT	0.592													24	54					0	0	0	0	T	43870809	C	T	43870809	2	4	266	1	0	0	0	0	0	0	0	1	9811	639	23	1		1	MPPED1	22	43870809	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08	1576091	43870809	7433757	134	47484											
RBBP7	5931	broad.mit.edu	37	chrX	16863980	16863980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatctgcatgatgttatcctCagacactgagcaaatgaccc	12	11	7	11	0	2	4	1	3	1	1	3	4	3	4	2	0	2	3	2	0	3	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:16863980C>G	ENST00000380087.2	-	11	1540	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	RBBP7_ENST00000380084.4_Missense_Mutation_p.E438Q|RBBP7_ENST00000404022.1_Missense_Mutation_p.E385Q			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	394					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					ATGTTATCCTCAGACACTGAG	0.353													4	45					0	0	0	0	G	16863980	C	G	16863980	3	3	266	1	0	0	0	0	1	0	0	0	13186	835	29	2	105	2	RBBP7	23	16863980	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08		16863980	138406580	135	47485											
RAI2	10742	broad.mit.edu	37	chrX	17819471	17819471	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggaccaggggggacaaGggggagctaaaaggctgtgg	10	4	22	5	0	0	0	0	0	0	0	0	3	0	3	1	9	1	2	1	9	3	1			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:17819471G>T	ENST00000545871.1	-	3	1120	c.660C>A	c.(658-660)ccC>ccA	p.P220P	RAI2_ENST00000360011.1_Silent_p.P220P|RAI2_ENST00000451717.1_Silent_p.P220P|RAI2_ENST00000331511.1_Silent_p.P220P|RAI2_ENST00000415486.3_Silent_p.P170P	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	220	Pro-rich.				embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGGGGGACAAGGGGGAGCTAA	0.632													24	35					6.44725e-10	7.71297e-10	1	0	T	17819471	G	T	17819471	2	4	266	1	0	0	0	0	0	0	0	1	13091	987	35	4		4	RAI2	23	17819471	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08	955491	17819471	137451089	136	47486											
FAM47B	170062	broad.mit.edu	37	chrX	34961653	34961653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagactcgggtgtccagtctCcacccggaacctccagagac	10	6	10	15	2	1	2	0	0	1	2	5	4	3	3	5	2	1	0	5	2	2	0			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:34961653C>T	ENST00000329357.5	+	1	741	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	235	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGTCCAGTCTCCACCCGGAAC	0.637													6	105					0	0	0	0	T	34961653	C	T	34961653	2	4	266	1	0	0	0	0	0	0	0	1	5617	842	30	2		2	FAM47B	23	34961653	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08	17142182	34961653	120308907	137	47487											
OGT	8473	broad.mit.edu	37	chrX	70787880	70787880	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagttgcagcatcccagctCacttgcttaggttgtcttga	7	13	10	11	1	2	1	1	1	1	0	3	2	3	1	1	1	4	6	1	1	1	5			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:70787880C>T	ENST00000373719.3	+	21	3097	c.2880C>T	c.(2878-2880)ctC>ctT	p.L960L	OGT_ENST00000373701.3_Silent_p.L950L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	960					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATCCCAGCTCACTTGCTTAG	0.383													16	110					0	0	0	0	T	70787880	C	T	70787880	2	4	266	1	0	0	0	0	0	0	0	1	10918	813	29	2		2	OGT	23	70787880	Silent	SNP	C	TCGA-CV-6955-01A-11D-2012-08	35826227	70787880	84482680	138	47488											
HDX	139324	broad.mit.edu	37	chrX	83723803	83723803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcgatgccagctcttcctCtctggcatattcatcctcag	7	13	6	15	1	4	0	2	0	2	0	8	1	6	0	3	1	2	2	3	1	1	3			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:83723803C>T	ENST00000297977.5	-	3	1039	c.928G>A	c.(928-930)Gag>Aag	p.E310K	HDX_ENST00000373177.2_Missense_Mutation_p.E310K|HDX_ENST00000506585.2_Missense_Mutation_p.E252K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	310						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGCTCTTCCTCTCTGGCATAT	0.473													16	80					0	0	0	0	T	83723803	C	T	83723803	3	4	266	1	0	0	0	0	1	0	0	0	7076	922	32	2	1176	2	HDX	23	83723803	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	12935923	83723803	71546757	139	47489											
GLA	2717	broad.mit.edu	37	chrX	100662806	100662806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccattgtccagtgctctaGccccagggatgtcccaggaa	9	9	10	13	0	1	0	0	0	1	0	4	2	4	2	5	2	2	1	5	2	2	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:100662806G>A	ENST00000218516.3	-	1	107	c.86C>T	c.(85-87)gCt>gTt	p.A29V	RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	29					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	CAGTGCTCTAGCCCCAGGGAT	0.602													5	137					0	0	0	0	A	100662806	G	A	100662806	3	1	266	1	0	0	0	0	1	0	0	0	6477	971	34	4	1231	4	GLA	23	100662806	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	16939003	100662806	54607754	140	47490											
NKAP	79576	broad.mit.edu	37	chrX	119066122	119066122	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttgggattctttagaGcttgaatcactggactcttt	7	18	8	8	0	5	2	1	1	4	1	5	4	5	4	0	2	1	1	0	2	2	7			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:119066122G>A	ENST00000371410.3	-	6	961	c.795C>T	c.(793-795)agC>agT	p.S265S	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	265	Necessary for interaction with CIR1.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						ATTCTTTAGAGCTTGAATCAC	0.343													5	204					0	0	0	0	A	119066122	G	A	119066122	2	1	266	1	0	0	0	0	0	0	0	1	10509	962	34	4		4	NKAP	23	119066122	Silent	SNP	G	TCGA-CV-6955-01A-11D-2012-08	18403316	119066122	36204438	141	47491											
CUL4B	8450	broad.mit.edu	37	chrX	119660660	119660660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggattttctttatctctttCcatgtagtcccggtcaatta	7	19	6	9	1	3	0	1	0	2	0	6	1	5	1	2	2	0	1	2	2	4	7			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:119660660C>T	ENST00000371322.5	-	20	2705	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K	CUL4B_ENST00000336592.6_Missense_Mutation_p.E887K|CUL4B_ENST00000404115.3_Missense_Mutation_p.E900K	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	900					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTATCTCTTTCCATGTAGTCC	0.373													26	56					0	0	0	0	T	119660660	C	T	119660660	3	4	266	1	0	0	0	0	1	0	0	0	4090	864	30	2	47	2	CUL4B	23	119660660	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	594538	119660660	35609900	142	47492											
CT47B1	643311	broad.mit.edu	37	chrX	120007815	120007815	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttttcttgttctttctcttCctcgcctgcagcatcttggg	2	20	7	12	1	4	0	0	0	4	0	7	0	5	0	2	1	2	3	2	1	0	7			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:120007815C>A	ENST00000371311.3	-	2	1089	c.835G>T	c.(835-837)Gaa>Taa	p.E279*		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	279										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCTTTCTCTTCCTCGCCTGCA	0.458													167	563					4.69383e-74	5.72061e-74	1	0	A	120007815	C	A	120007815	4	1	266	1	0	0	0	0	0	1	0	0	4021	864	30	2	68	2	CT47B1	23	120007815	Nonsense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	347155	120007815	35262745	143	47493											
THOC2	57187	broad.mit.edu	37	chrX	122820424	122820424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacttgaatttgaacccaaGaatatgacacagtgtttgcg	15	11	8	7	1	0	4	0	3	0	1	0	4	0	4	1	0	3	1	1	0	6	4			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:122820424G>C	ENST00000245838.8	-	8	773	c.742C>G	c.(742-744)Ctt>Gtt	p.L248V	THOC2_ENST00000355725.4_Missense_Mutation_p.L248V|THOC2_ENST00000491737.1_Missense_Mutation_p.L133V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	248					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTGAACCCAAGAATATGACAC	0.299													6	49					0	0	0	0	C	122820424	G	C	122820424	3	2	266	1	0	0	0	0	1	0	0	0	15959	942	33	2	4163	2	THOC2	23	122820424	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	2812609	122820424	32450136	144	47494											
GPR112	139378	broad.mit.edu	37	chrX	135429169	135429169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtcaggaagacatccatgGcagttccttctctgacagaa	11	10	9	11	0	2	3	1	1	1	2	5	4	4	4	2	2	0	2	2	2	2	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:135429169G>T	ENST00000394143.1	+	6	3595	c.3304G>T	c.(3304-3306)Gca>Tca	p.A1102S	GPR112_ENST00000370652.1_Missense_Mutation_p.A1102S|GPR112_ENST00000394141.1_Missense_Mutation_p.A897S|GPR112_ENST00000412101.1_Missense_Mutation_p.A897S|GPR112_ENST00000287534.4_Missense_Mutation_p.A1039S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1102					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GACATCCATGGCAGTTCCTTC	0.478													11	212					1.33987e-11	1.61281e-11	1	0	T	135429169	G	T	135429169	3	4	266	1	0	0	0	0	1	0	0	0	6678	1203	42	4	3314	4	GPR112	23	135429169	Missense_Mutation	SNP	G	TCGA-CV-6955-01A-11D-2012-08	12608745	135429169	19841391	145	47495											
SOX3	6658	broad.mit.edu	37	chrX	139586097	139586097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcggcggcgagctgggctCagacttcactaccgagccca	7	5	15	14	4	2	1	2	0	0	1	2	3	2	1	2	4	3	2	2	4	1	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:139586097C>G	ENST00000370536.2	-	1	1128	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	377					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GAGCTGGGCTCAGACTTCACT	0.751													4	16					0	0	0	0	G	139586097	C	G	139586097	3	3	266	1	0	0	0	0	1	0	0	0	15039	835	29	2	215	2	SOX3	23	139586097	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	4156928	139586097	15684463	146	47496											
MAGEA6	4105	broad.mit.edu	37	chrX	151870209	151870209	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtggaggacctcgcatttCctacccactcctgcatgagt	8	10	9	14	1	0	1	0	1	0	0	3	3	2	3	4	2	2	2	4	2	1	2			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:151870209C>A	ENST00000329342.5	+	3	1124	c.899C>A	c.(898-900)tCc>tAc	p.S300Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	300	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGCATTTCCTACCCACTC	0.562													7	227					5.18039e-06	6.04896e-06	1	0	A	151870209	C	A	151870209	3	1	266	1	0	0	0	0	1	0	0	0	9237	855	30	2	901	2	MAGEA6	23	151870209	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	12284112	151870209	3400351	147	47497											
ATP2B3	492	broad.mit.edu	37	chrX	152821580	152821580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggggacaacatcaacaCggcccgggccatcgcagcca	11	3	12	15	3	1	0	1	0	0	0	2	2	1	1	3	4	3	1	3	4	2	0			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:152821580C>T	ENST00000370186.1	+	12	2416	c.2090C>T	c.(2089-2091)aCg>aTg	p.T697M	ATP2B3_ENST00000349466.2_Missense_Mutation_p.T711M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.T711M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.T697M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.T697M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T711M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	711					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AACATCAACACGGCCCGGGCC	0.592													26	99					0	0	0	0	T	152821580	C	T	152821580	3	4	266	1	0	0	0	0	1	0	0	0	1145	536	19	1	2178	1	ATP2B3	23	152821580	Missense_Mutation	SNP	C	TCGA-CV-6955-01A-11D-2012-08	951371	152821580	2448980	148	47498											
SPEN	23013	broad.mit.edu	37	chr1	16254612	16254612	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgaagggcatcctacgactAtaaccaagatcgtacatatt	15	9	7	10	3	0	1	0	0	0	1	2	3	1	1	2	1	3	2	2	1	7	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:16254612A>G	ENST00000375759.3	+	11	2081	c.1877A>G	c.(1876-1878)tAt>tGt	p.Y626C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	626	Arg-rich.|Tyr-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCTACGACTATAACCAAGAT	0.398													19	24					0	0	0	0	G	16254612	A	G	16254612	3	3	267	1	0	0	0	0	1	0	0	0	15128	449	16	5	1919	5	SPEN	1	16254612	Missense_Mutation	SNP	A	TCGA-CV-6956-01A-21D-2012-08		16254612	232996009	1	47499											
LAPTM5	7805	broad.mit.edu	37	chr1	31210496	31210496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatggaaaagatgatcatCatcttgatgaactggttatg	13	12	11	5	1	3	4	2	3	1	1	3	6	3	5	0	2	1	1	0	2	4	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:31210496C>A	ENST00000294507.3	-	6	635	c.561G>T	c.(559-561)atG>atT	p.M187I		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	187					transport	integral to plasma membrane|lysosomal membrane		p.M187I(1)		large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGATCATCATCTTGATGA	0.522													23	45					7.07758e-08	7.8931e-08	1	0	A	31210496	C	A	31210496	3	1	267	1	0	0	0	0	1	0	0	0	8679	826	29	2	239	2	LAPTM5	1	31210496	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	14955884	31210496	218040125	2	47500											
C1orf168	199920	broad.mit.edu	37	chr1	57257988	57257988	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcccttccagatggatGgccttacttccatagttggc	6	15	9	11	0	0	1	0	0	0	1	2	2	2	2	4	3	2	1	4	3	2	7			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:57257988G>T	ENST00000343433.6	-	2	578	c.498C>A	c.(496-498)gcC>gcA	p.A166A	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	166										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						CCAGATGGATGGCCTTACTTC	0.483													37	62					1.836e-18	2.24125e-18	1	0	T	57257988	G	T	57257988	2	4	267	1	0	0	0	0	0	0	0	1	2031	1335	47	4		4	C1orf168	1	57257988	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	26047492	57257988	191992633	3	47501											
MCOLN3	55283	broad.mit.edu	37	chr1	85491754	85491754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttcttataatggaggagGaaaaaattgacaaactcctt	15	12	7	7	0	1	1	0	1	1	0	3	4	3	4	2	3	1	0	2	3	6	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:85491754G>T	ENST00000370589.2	-	9	1015	c.963C>A	c.(961-963)ttC>ttA	p.F321L	MCOLN3_ENST00000341115.4_Missense_Mutation_p.F265L|MCOLN3_ENST00000370587.1_3'UTR|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	321						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AATGGAGGAGGAAAAAATTGA	0.363													10	16					2.80697e-09	3.15639e-09	1	0	T	85491754	G	T	85491754	3	4	267	1	0	0	0	0	1	0	0	0	9466	1165	41	2	718	2	MCOLN3	1	85491754	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	28233766	85491754	163758867	4	47502											
DPYD	1806	broad.mit.edu	37	chr1	97915726	97915726	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtccagggccatacatGgggccagaggtggttccccg	6	9	14	12	1	0	1	0	0	0	1	2	1	2	1	5	5	1	1	5	5	1	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:97915726G>C	ENST00000370192.3	-	14	1894	c.1794C>G	c.(1792-1794)ccC>ccG	p.P598P		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	598					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GGCCATACATGGGGCCAGAGG	0.448													28	52					0	0	0	0	C	97915726	G	C	97915726	2	2	267	1	0	0	0	0	0	0	0	1	4781	1335	47	4		4	DPYD	1	97915726	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	12423972	97915726	151334895	5	47503											
TARS2	80222	broad.mit.edu	37	chr1	150478094	150478094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcctgcgggctgcaggaCtggtcagtgacctggatgca	8	7	16	10	1	1	2	1	1	0	1	1	4	1	4	2	4	4	3	2	4	0	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:150478094C>A	ENST00000369064.3	+	17	1955	c.1921C>A	c.(1921-1923)Ctg>Atg	p.L641M	TARS2_ENST00000606933.1_Missense_Mutation_p.L559M|TARS2_ENST00000369054.2_Missense_Mutation_p.L511M	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	641					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGCTGCAGGACTGGTCAGTGA	0.527													42	69					4.0306e-16	4.83315e-16	1	0	A	150478094	C	A	150478094	3	1	267	1	0	0	0	0	1	0	0	0	15651	564	20	4	1987	4	TARS2	1	150478094	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	52562368	150478094	98772527	6	47504											
VPS72	6944	broad.mit.edu	37	chr1	151150569	151150569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attatgggcccggggcacttCcgcttcttatgaacctgctt	6	13	10	12	2	1	1	0	1	1	0	2	1	2	1	3	3	2	3	3	3	3	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:151150569C>T	ENST00000354473.4	-	5	651	c.615G>A	c.(613-615)cgG>cgA	p.R205R	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	205					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGGGCACTTCCGCTTCTTAT	0.493													19	57					0	0	0	0	T	151150569	C	T	151150569	2	4	267	1	0	0	0	0	0	0	0	1	17313	842	30	2		2	VPS72	1	151150569	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	672475	151150569	98100052	7	47505											
FAM189B	10712	broad.mit.edu	37	chr1	155223908	155223908	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagtctcgggccagttgAgcattcttacaggagagaac	11	9	13	8	1	2	2	0	1	2	1	3	5	2	4	1	3	3	2	1	3	3	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:155223908A>T	ENST00000361361.2	-	3	869	c.360T>A	c.(358-360)gcT>gcA	p.A120A	FAM189B_ENST00000368368.3_Silent_p.A101A|FAM189B_ENST00000472550.1_Intron|FAM189B_ENST00000350210.2_Intron	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	120						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGCCAGTTGAGCATTCTTAC	0.532													83	111					0	0	0	0	T	155223908	A	T	155223908	2	4	267	1	0	0	0	0	0	0	0	1	5560	291	11	5		5	FAM189B	1	155223908	Silent	SNP	A	TCGA-CV-6956-01A-21D-2012-08	4073339	155223908	94026713	8	47506											
SLAMF6	114836	broad.mit.edu	37	chr1	160466073	160466073	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcattgaaaagccaagTgatgaagttgaccttctctc	11	14	8	8	0	2	4	1	4	1	0	4	4	2	4	2	0	1	2	2	0	4	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:160466073T>G	ENST00000368059.3	-	2	229	c.160A>C	c.(160-162)Act>Cct	p.T54P	SLAMF6_ENST00000368057.3_Missense_Mutation_p.T54P|SLAMF6_ENST00000368055.1_Intron	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	54						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AAAAGCCAAGTGATGAAGTTG	0.463													48	135					0	0	0	0	G	160466073	T	G	160466073	3	3	267	1	0	0	0	0	1	0	0	0	14456	1696	59	5	866	5	SLAMF6	1	160466073	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	5242165	160466073	88784548	9	47507											
SELP	6403	broad.mit.edu	37	chr1	169576215	169576215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggaggaacagaattccaGtttccagtagccaagcactg	12	9	10	10	0	1	1	0	0	1	1	3	3	3	3	3	2	3	3	3	2	4	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:169576215G>C	ENST00000263686.6	-	9	1528	c.1491C>G	c.(1489-1491)aaC>aaG	p.N497K	SELP_ENST00000367793.2_Missense_Mutation_p.N435K|SELP_ENST00000458599.2_Missense_Mutation_p.N435K|SELP_ENST00000367791.2_Missense_Mutation_p.N373K|SELP_ENST00000367792.2_Missense_Mutation_p.N435K|SELP_ENST00000367788.2_Missense_Mutation_p.N435K|SELP_ENST00000367786.2_Missense_Mutation_p.N435K|SELP_ENST00000367794.2_Missense_Mutation_p.N435K	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	497	Sushi 5.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAGAATTCCAGTTTCCAGTAG	0.453													38	40					0	0	0	0	C	169576215	G	C	169576215	3	2	267	1	0	0	0	0	1	0	0	0	14106	1020	36	4	1033	4	SELP	1	169576215	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	9110142	169576215	79674406	10	47508											
SMG7	9887	broad.mit.edu	37	chr1	183518407	183518407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctttcctgtccctcaccgGattctctctcaatcaggtag	6	14	6	15	1	5	0	3	0	3	0	9	1	7	1	3	2	0	1	3	2	2	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:183518407G>T	ENST00000367537.3	+	20	3101	c.2906G>T	c.(2905-2907)gGa>gTa	p.G969V	SMG7_ENST00000508461.1_Missense_Mutation_p.G944V|SMG7_ENST00000347615.2_Missense_Mutation_p.G936V|SMG7_ENST00000507469.1_Missense_Mutation_p.G940V|SMG7_ENST00000515829.2_Missense_Mutation_p.G890V|SMG7_ENST00000456731.2_Missense_Mutation_p.G848V			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	936	Ser-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCCCTCACCGGATTCTCTCTC	0.403													18	26					0.000132079	0.000139818	1	0	T	183518407	G	T	183518407	3	4	267	1	0	0	0	0	1	0	0	0	14886	1174	41	2	3031	2	SMG7	1	183518407	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	13942192	183518407	65732214	11	47509											
CR1	1378	broad.mit.edu	37	chr1	207760880	207760880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcctgcctagaaaacttgGtctggtcaagtgttgaagac	10	12	10	9	0	3	3	1	1	2	2	4	3	3	3	2	2	2	1	2	2	5	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:207760880G>A	ENST00000367049.4	+	34	5680	c.5680G>A	c.(5680-5682)Gtc>Atc	p.V1894I	CR1_ENST00000367053.1_Missense_Mutation_p.V1444I|CR1_ENST00000367052.1_Missense_Mutation_p.V1444I|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.V1444I|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.V1444I	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1444	Sushi 29.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGAAAACTTGGTCTGGTCAAG	0.453													45	81					0	0	0	0	A	207760880	G	A	207760880	3	1	267	1	0	0	0	0	1	0	0	0	3870	1261	44	4	5814	4	CR1	1	207760880	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	24242473	207760880	41489741	12	47510											
CD34	947	broad.mit.edu	37	chr1	208072364	208072364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgatgtatagggtttagtgGgagatgttgcaaggctagtg	10	13	16	2	0	0	2	0	1	0	1	0	3	0	2	0	3	1	5	0	3	5	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:208072364G>A	ENST00000356522.4	-	3	791	c.470C>T	c.(469-471)cCc>cTc	p.P157L	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Intron|CD34_ENST00000310833.7_Missense_Mutation_p.P157L	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	157					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	p.P157H(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GGGTTTAGTGGGAGATGTTGC	0.468													78	185					0	0	0	0	A	208072364	G	A	208072364	3	1	267	1	0	0	0	0	1	0	0	0	3035	1232	43	4	730	4	CD34	1	208072364	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	311484	208072364	41178257	13	47511											
SLC30A1	7779	broad.mit.edu	37	chr1	211751730	211751730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcccccattacctcggctcgGatccagccgaacgtgttctt	6	10	9	16	4	1	0	0	0	1	0	4	2	2	1	5	2	3	2	5	2	2	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:211751730G>A	ENST00000367001.4	-	1	354	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	75					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CCTCGGCTCGGATCCAGCCGA	0.662													16	20					0	0	0	0	A	211751730	G	A	211751730	2	1	267	1	0	0	0	0	0	0	0	1	14641	1164	41	2		2	SLC30A1	1	211751730	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	3679366	211751730	37498891	14	47512											
AIDA	64853	broad.mit.edu	37	chr1	222843263	222843263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaaagtttgatgtagaTgaagataaagtggtttcttg	12	15	12	2	0	1	4	0	2	1	2	1	4	1	4	0	1	1	4	0	1	5	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:222843263T>C	ENST00000340020.6	-	10	1099	c.893A>G	c.(892-894)cAt>cGt	p.H298R	AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Missense_Mutation_p.H216R|AIDA_ENST00000541237.1_Missense_Mutation_p.H274R	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	298					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TTGATGTAGATGAAGATAAAG	0.353													18	31					0	0	0	0	C	222843263	T	C	222843263	3	2	267	1	0	0	0	0	1	0	0	0	423	1464	51	5	31	5	AIDA	1	222843263	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	11091533	222843263	26407358	15	47513											
ZNF678	339500	broad.mit.edu	37	chr1	227842404	227842404	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaattcatactggagagaaAccctacaaatgtgacgaatg	17	8	9	7	1	1	3	1	1	0	2	1	6	1	4	1	1	3	0	1	1	6	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:227842404A>G	ENST00000343776.4	+	4	798	c.453A>G	c.(451-453)aaA>aaG	p.K151K	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Silent_p.K206K			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	206					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CTGGAGAGAAACCCTACAAAT	0.353													26	78					0	0	0	0	G	227842404	A	G	227842404	2	3	267	1	0	0	0	0	0	0	0	1	18180	40	2	5		5	ZNF678	1	227842404	Silent	SNP	A	TCGA-CV-6956-01A-21D-2012-08	4999141	227842404	21408217	16	47514											
RYR2	6262	broad.mit.edu	37	chr1	237802492	237802492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccaaatagcggatccaGtaaaacactgtaggtctaat	15	9	7	10	1	2	0	1	0	1	0	3	1	3	1	2	2	2	2	2	2	6	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:237802492G>T	ENST00000366574.2	+	46	7423	c.7106G>T	c.(7105-7107)aGt>aTt	p.S2369I	RYR2_ENST00000360064.6_Missense_Mutation_p.S2367I|RYR2_ENST00000542537.1_Missense_Mutation_p.S2353I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2369	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCGGATCCAGTAAAACACTG	0.418													7	20					2.0095e-06	2.18704e-06	1	0	T	237802492	G	T	237802492	3	4	267	1	0	0	0	0	1	0	0	0	13854	1029	36	4	7288	4	RYR2	1	237802492	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	9960088	237802492	11448129	17	47515											
OTOF	9381	broad.mit.edu	37	chr2	26702480	26702480	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttccggggccgaggccGctggggccgggacaggccat	4	5	17	15	4	0	0	0	0	0	0	2	2	2	1	6	7	0	1	6	7	0	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:26702480G>T	ENST00000272371.2	-	17	2080	c.1954C>A	c.(1954-1956)Cgg>Agg	p.R652R	OTOF_ENST00000403946.3_Silent_p.R652R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	652					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCGAGGCCGCTGGGGCCGG	0.642													22	38					2.44723e-14	2.88348e-14	1	0	T	26702480	G	T	26702480	2	4	267	1	0	0	0	0	0	0	0	1	11374	1086	38	3		3	OTOF	2	26702480	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08		26702480	216496893	18	47516											
GPR75	10936	broad.mit.edu	37	chr2	54080317	54080317	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgaagtgctgtcatatTcctgcactaagtcattagtg	9	14	10	8	0	2	1	2	1	0	0	3	1	3	1	1	1	2	3	1	1	4	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:54080317T>C	ENST00000394705.2	-	2	1847	c.1577A>G	c.(1576-1578)gAa>gGa	p.E526G	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	526						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTGTCATATTCCTGCACTAA	0.408													29	70					0	0	0	0	C	54080317	T	C	54080317	3	2	267	1	0	0	0	0	1	0	0	0	6757	1783	62	5	49	5	GPR75	2	54080317	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	27377837	54080317	189119056	19	47517											
AFTPH	54812	broad.mit.edu	37	chr2	64780007	64780007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttgaagagtcttcagagCactttccacattttagtgaa	11	15	7	8	0	2	4	1	2	1	2	3	4	3	4	1	0	1	1	1	0	3	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:64780007C>T	ENST00000422803.1	+	2	1713	c.1399C>T	c.(1399-1401)Cac>Tac	p.H467Y	AFTPH_ENST00000409183.1_Missense_Mutation_p.H98Y|AFTPH_ENST00000238856.4_Missense_Mutation_p.H467Y|AFTPH_ENST00000238855.7_Missense_Mutation_p.H467Y|AFTPH_ENST00000409933.1_Missense_Mutation_p.H467Y			Q6ULP2	AFTIN_HUMAN	aftiphilin	467					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GTCTTCAGAGCACTTTCCACA	0.413													33	58					0	0	0	0	T	64780007	C	T	64780007	3	4	267	1	0	0	0	0	1	0	0	0	364	710	25	4	1401	4	AFTPH	2	64780007	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	10699690	64780007	178419366	20	47518											
WDR54	84058	broad.mit.edu	37	chr2	74652827	74652827	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggagattcagcagtgtgtGagaagagcagccttcctttg	9	10	13	9	1	1	3	1	1	0	3	2	5	2	3	3	1	3	2	3	1	1	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:74652827G>C	ENST00000348227.4	+	10	1092	c.1004G>C	c.(1003-1005)tGa>tCa	p.*335S	WDR54_ENST00000409791.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	0										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AGCAGTGTGTGAGAAGAGCAG	0.507													71	98					0	0	0	0	C	74652827	G	C	74652827	4	2	267	1	0	0	0	0	0	0	0	0	17402	1285	45	2	1038	2	WDR54	2	74652827	Nonstop_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	9872820	74652827	168546546	21	47519											
MYO7B	4648	broad.mit.edu	37	chr2	128384629	128384629	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgcctgcagtggccgcTgctcttctcccggctcttcg	1	10	11	19	5	3	0	0	0	3	0	5	0	3	0	4	2	2	4	4	2	0	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:128384629T>A	ENST00000389524.4	+	31	4270	c.4217T>A	c.(4216-4218)cTg>cAg	p.L1406Q	MYO7B_ENST00000428314.1_Missense_Mutation_p.L1406Q|MYO7B_ENST00000409090.1_Missense_Mutation_p.L259Q|MYO7B_ENST00000409816.2_Missense_Mutation_p.L1406Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1406	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGTGGCCGCTGCTCTTCTCC	0.637													7	12					0	0	0	0	A	128384629	T	A	128384629	3	1	267	1	0	0	0	0	1	0	0	0	10153	1580	55	5	4335	5	MYO7B	2	128384629	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	53731802	128384629	114814744	22	47520											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135851202	135851202	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagatgttgttccacaatctAtgcaagatttgctgggtatg	10	15	10	6	0	1	2	0	0	1	2	2	2	2	2	1	1	2	5	1	1	5	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:135851202A>T	ENST00000264158.8	+	5	344	c.301A>T	c.(301-303)Atg>Ttg	p.M101L	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.M57L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.M101L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	101						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TCCACAATCTATGCAAGATTT	0.348													21	39					0	0	0	0	T	135851202	A	T	135851202	3	4	267	1	0	0	0	0	1	0	0	0	13017	449	16	5	319	5	RAB3GAP1	2	135851202	Missense_Mutation	SNP	A	TCGA-CV-6956-01A-21D-2012-08	7466573	135851202	107348171	23	47521											
NEB	4703	broad.mit.edu	37	chr2	152397296	152397296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatggggtctctctttggtgGcaagttcaacatacagatac	10	12	11	8	0	3	1	1	0	2	1	4	2	3	1	0	4	3	2	0	4	4	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:152397296G>T	ENST00000397345.3	-	137	20904	c.20702C>A	c.(20701-20703)gCc>gAc	p.A6901D	NEB_ENST00000172853.10_Missense_Mutation_p.A5200D|NEB_ENST00000427231.2_Missense_Mutation_p.A6901D|NEB_ENST00000409198.1_Missense_Mutation_p.A5200D|NEB_ENST00000604864.1_Missense_Mutation_p.A6901D|NEB_ENST00000603639.1_Missense_Mutation_p.A6901D	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5200					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTTTGGTGGCAAGTTCAAC	0.413													26	45					2.79863e-10	3.18668e-10	1	0	T	152397296	G	T	152397296	3	4	267	1	0	0	0	0	1	0	0	0	10372	1203	42	4	5168	4	NEB	2	152397296	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	16546094	152397296	90802077	24	47522											
SCN3A	6328	broad.mit.edu	37	chr2	166003416	166003416	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcttcttttcttccttcGgttcctccattctttagcac	3	20	4	14	1	4	0	0	0	4	0	8	0	7	0	3	1	1	2	3	1	1	9			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:166003416G>A	ENST00000360093.3	-	12	1995	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	SCN3A_ENST00000409101.3_Nonsense_Mutation_p.R502*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.R502*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	502						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTCTTCCTTCGGTTCCTCCAT	0.428													51	96					0	0	0	0	A	166003416	G	A	166003416	4	1	267	1	0	0	0	0	0	1	0	0	14005	1124	39	1	4566	1	SCN3A	2	166003416	Nonsense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	13606120	166003416	77195957	25	47523											
TTN	7273	broad.mit.edu	37	chr2	179457367	179457367	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttgccatgttggcatCaagaatcaactcagggggtt	9	13	10	9	0	4	1	3	0	1	1	5	1	4	1	1	3	2	3	1	3	3	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:179457367C>A	ENST00000589042.1	-	301	59589	c.59365G>T	c.(59365-59367)Gat>Tat	p.D19789Y	TTN_ENST00000359218.5_Missense_Mutation_p.D10849Y|TTN_ENST00000460472.2_Missense_Mutation_p.D10724Y|TTN_ENST00000342992.6_Missense_Mutation_p.D17221Y|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D18148Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10916Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18148	Fibronectin type-III 43.						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)			ATGTTGGCATCAAGAATCAAC	0.363													35	51					7.65355e-07	8.46577e-07	1	0	A	179457367	C	A	179457367	3	1	267	1	0	0	0	0	1	0	0	0	16831	826	29	2	48862	2	TTN	2	179457367	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	13453951	179457367	63742006	26	47524											
GULP1	51454	broad.mit.edu	37	chr2	189458684	189458684	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggggttcaaaatgggActaactcttgaaggcacagt	13	8	13	7	0	2	1	1	1	1	0	2	3	2	3	0	5	1	2	0	5	4	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:189458684A>T	ENST00000409843.1	+	13	1541	c.872A>T	c.(871-873)gAc>gTc	p.D291V	GULP1_ENST00000409805.1_Silent_p.G184G|GULP1_ENST00000409609.1_Silent_p.G287G|GULP1_ENST00000359135.3_Silent_p.G287G|GULP1_ENST00000409580.1_Silent_p.G287G|GULP1_ENST00000409830.1_Silent_p.G287G	NM_001252668.1|NM_016315.3	NP_001239597.1|NP_057399.1	Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	0					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TCAAAATGGGACTAACTCTTG	0.338													9	26					0	0	0	0	T	189458684	A	T	189458684	3	4	267	1	0	0	0	0	1	0	0	0	6951	262	10	5	899	5	GULP1	2	189458684	Missense_Mutation	SNP	A	TCGA-CV-6956-01A-21D-2012-08	10001317	189458684	53740689	27	47525											
CPS1	1373	broad.mit.edu	37	chr2	211473156	211473156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaaattaagaacgtcgtatCcgggaagacatcagcctgtt	14	9	10	8	3	1	3	1	0	0	3	3	4	2	4	2	1	2	2	2	1	5	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:211473156C>T	ENST00000233072.5	+	19	2460	c.2264C>T	c.(2263-2265)tCc>tTc	p.S755F	CPS1_ENST00000430249.2_Missense_Mutation_p.S761F|CPS1_ENST00000451903.2_Missense_Mutation_p.S304F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	755					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AACGTCGTATCCGGGAAGACA	0.423													27	47					0	0	0	0	T	211473156	C	T	211473156	3	4	267	1	0	0	0	0	1	0	0	0	3853	855	30	2	2360	2	CPS1	2	211473156	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	22014472	211473156	31726217	28	47526											
MARCH4	57574	broad.mit.edu	37	chr2	217124378	217124378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttaaagatgcggtacaccGagggtccttcatggatgatg	10	11	13	7	2	1	2	1	1	0	1	2	4	2	3	2	3	2	2	2	3	3	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:217124378G>A	ENST00000273067.4	-	4	2656	c.890C>T	c.(889-891)tCg>tTg	p.S297L	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	297						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GCGGTACACCGAGGGTCCTTC	0.537													23	25					0	0	0	0	A	217124378	G	A	217124378	3	1	267	1	0	0	0	0	1	0	0	0	9372	1059	37	1	346	1	MARCH4	2	217124378	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	5651222	217124378	26074995	29	47527											
COL6A3	1293	broad.mit.edu	37	chr2	238287849	238287849	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttggctgatccatccaaaaGaaagatgatatcccttttgt	12	13	8	8	0	0	4	0	2	0	2	3	4	3	4	3	1	0	2	3	1	4	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:238287849G>C	ENST00000295550.4	-	6	2379	c.1927C>G	c.(1927-1929)Ctt>Gtt	p.L643V	COL6A3_ENST00000392003.2_Missense_Mutation_p.L236V|COL6A3_ENST00000409809.1_Missense_Mutation_p.L437V|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000353578.4_Missense_Mutation_p.L437V|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.L442V|COL6A3_ENST00000392004.3_Missense_Mutation_p.L437V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	643	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCATCCAAAAGAAAGATGATA	0.388													11	24					0	0	0	0	C	238287849	G	C	238287849	3	2	267	1	0	0	0	0	1	0	0	0	3731	942	33	2	7809	2	COL6A3	2	238287849	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	21163471	238287849	4911524	30	47528											
MYEOV2	150678	broad.mit.edu	37	chr2	241069334	241069334	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcacttcttacctcttcCgacaccacaggccgctctgc	7	10	7	17	2	3	0	0	0	3	0	4	2	4	0	4	1	3	2	4	1	1	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:241069334C>T	ENST00000307266.3	-	4	374	c.375G>A	c.(373-375)tcG>tcA	p.S125S		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTACCTCTTCCGACACCACAG	0.617													34	65					0	0	0	0	T	241069334	C	T	241069334	2	4	267	1	0	0	0	0	0	0	0	1	10096	639	23	1		1	MYEOV2	2	241069334	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	2781485	241069334	2130039	31	47529											
ING5	84289	broad.mit.edu	37	chr2	242650884	242650884	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtgattttgaaagctcCggagggcgagggttaaaaag	12	8	16	5	2	0	2	0	2	0	0	1	4	1	3	1	4	1	3	1	4	4	3	rs142180451	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:242650884C>T	ENST00000313552.6	+	4	395	c.369C>T	c.(367-369)tcC>tcT	p.S123S	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Silent_p.S123S	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	123					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTGAAAGCTCCGGAGGGCGAG	0.393													44	94					0	0	0	0	T	242650884	C	T	242650884	2	4	267	1	0	0	0	0	0	0	0	1	7792	639	23	1		1	ING5	2	242650884	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	1581550	242650884	548489	32	47530											
PLCL2	23228	broad.mit.edu	37	chr3	17052859	17052859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacaaacgttttcttgctaGggtttttcccagtccaatga	10	14	7	10	1	1	1	0	1	1	0	3	1	3	1	2	1	3	3	2	1	4	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:17052859G>A	ENST00000418129.2	+	2	2108	c.1643G>A	c.(1642-1644)aGg>aAg	p.R548K	PLCL2_ENST00000432376.1_Missense_Mutation_p.R548K|PLCL2_ENST00000396755.2_Missense_Mutation_p.R548K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	674	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTTCTTGCTAGGGTTTTTCCC	0.398													16	23					0	0	0	0	A	17052859	G	A	17052859	3	1	267	1	0	0	0	0	1	0	0	0	12112	1000	35	4	2021	4	PLCL2	3	17052859	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08		17052859	180969571	33	47531											
TOP2B	7155	broad.mit.edu	37	chr3	25665146	25665146	+	Frame_Shift_Del	DEL	T	T	-																															aaccatgggaattataggaaTataccactcaggctctacac																										TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:25665146delT	ENST00000435706.2	-	21	2773	c.2572delA	c.(2572-2574)ttfs	p.I858fs	TOP2B_ENST00000264331.4_Frame_Shift_Del_p.I863fs			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	863					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						ATTATAGGAATATACCACTCA	0.398													12	18	---	---	---	---					-	25665146	T	-	25665146	7	5	267	1	0	1	0	1	0	0	0	0	16461	1406	49	0	2357	0	TOP2B	3	25665146	Frame_Shift_Del	DEL	T	TCGA-CV-6956-01A-21D-2012-08	8612287	25665146	172357284	34	47532											
EPHA3	2042	broad.mit.edu	37	chr3	89456492	89456492	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtagcaattattctcctCactgttgtcatctatgtttt	8	18	6	9	0	4	0	2	0	2	0	5	0	4	0	1	0	1	5	1	0	4	7			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:89456492C>G	ENST00000336596.2	+	8	1893	c.1668C>G	c.(1666-1668)ctC>ctG	p.L556L	EPHA3_ENST00000494014.1_Silent_p.L556L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	556						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTATTCTCCTCACTGTTGTCA	0.408										TSP Lung(6;0.00050)			10	13					0	0	0	0	G	89456492	C	G	89456492	2	3	267	1	0	0	0	0	0	0	0	1	5206	813	29	2		2	EPHA3	3	89456492	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	63791346	89456492	108565938	35	47533											
EPHA6	285220	broad.mit.edu	37	chr3	97439174	97439174	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaaaattctcctcagcaagcGatgcatggagctatggcatt	12	10	10	9	1	2	0	1	0	1	0	3	3	2	1	1	2	4	4	1	2	4	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:97439174G>C	ENST00000389672.5	+	15	2892	c.2854G>C	c.(2854-2856)Gat>Cat	p.D952H		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	857						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTCAGCAAGCGATGCATGGAG	0.463													45	60					0	0	0	0	C	97439174	G	C	97439174	3	2	267	1	0	0	0	0	1	0	0	0	5209	1058	37	3	3029	3	EPHA6	3	97439174	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	7982682	97439174	100583256	36	47534											
KALRN	8997	broad.mit.edu	37	chr3	124369736	124369736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggatggccccacccacacctCctaaaaacccagaagaagaa	16	3	7	15	0	0	3	0	0	0	3	1	4	1	4	6	2	1	0	6	2	6	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:124369736C>T	ENST00000360013.3	+	38	5870	c.5743C>T	c.(5743-5745)Cct>Tct	p.P1915S	KALRN_ENST00000459915.1_Missense_Mutation_p.P7S|KALRN_ENST00000428018.2_Missense_Mutation_p.P186S|KALRN_ENST00000393496.1_Missense_Mutation_p.P256S|KALRN_ENST00000291478.4_Missense_Mutation_p.P218S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1914					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACCCACACCTCCTAAAAACCC	0.542													23	55					0	0	0	0	T	124369736	C	T	124369736	3	4	267	1	0	0	0	0	1	0	0	0	8028	855	30	2	6049	2	KALRN	3	124369736	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	26930562	124369736	73652694	37	47535											
STAG1	10274	broad.mit.edu	37	chr3	136141433	136141433	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacaacaaacttaatcTgttttaataaagcatccaga	16	12	3	10	0	2	1	0	0	2	1	4	1	3	1	2	0	3	2	2	0	6	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:136141433T>C	ENST00000383202.2	-	19	2112	c.1856A>G	c.(1855-1857)cAg>cGg	p.Q619R	STAG1_ENST00000536929.1_Missense_Mutation_p.Q203R|STAG1_ENST00000434713.2_Missense_Mutation_p.Q393R|STAG1_ENST00000236698.5_Missense_Mutation_p.Q619R	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	619					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAACTTAATCTGTTTTAATAA	0.308													21	52					0	0	0	0	C	136141433	T	C	136141433	3	2	267	1	0	0	0	0	1	0	0	0	15332	1580	55	5	1984	5	STAG1	3	136141433	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	11771697	136141433	61880997	38	47536											
CLSTN2	64084	broad.mit.edu	37	chr3	140281753	140281753	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcgtttccggattaagtgCtcagaactcaatgggcgcta	9	10	12	10	4	2	1	2	0	0	1	3	2	3	2	1	3	2	3	1	3	4	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:140281753C>A	ENST00000458420.3	+	14	2503	c.2313C>A	c.(2311-2313)tgC>tgA	p.C771*		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	771					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGATTAAGTGCTCAGAACTCA	0.562										HNSCC(16;0.037)			10	38					0.000673444	0.00071013	1	0	A	140281753	C	A	140281753	4	1	267	1	0	0	0	0	0	1	0	0	3592	805	28	4	2367	4	CLSTN2	3	140281753	Nonsense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	4140320	140281753	57740677	39	47537											
PIK3CA	5290	broad.mit.edu	37	chr3	178916946	178916946	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaggcaaccgtgaagaaaaGatcctcaatcgagaaattgg	16	7	11	7	2	1	4	1	1	0	3	3	5	2	4	2	2	1	2	2	2	7	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:178916946G>C	ENST00000263967.3	+	2	490	c.333G>C	c.(331-333)aaG>aaC	p.K111N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K111N(12)|p.K111_L113delKIL(2)|p.K111_I112>N(1)|p.K111del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTGAAGAAAAGATCCTCAATC	0.328		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	42					0	0	0	0	C	178916946	G	C	178916946	3	2	267	1	0	0	0	0	1	0	0	0	11985	933	33	2	335	2	PIK3CA	3	178916946	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	38635193	178916946	19105484	40	47538											
MCF2L2	23101	broad.mit.edu	37	chr3	182897459	182897459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaggtttcgtgactgtcgtCcgactggaaaaggcccgcga	9	8	13	11	5	0	1	0	1	0	0	3	4	1	2	2	3	0	1	2	3	2	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:182897459C>T	ENST00000328913.3	-	29	3424	c.3127G>A	c.(3127-3129)Gac>Aac	p.D1043N	MCF2L2_ENST00000473233.1_Missense_Mutation_p.D1043N	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1043					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGACTGTCGTCCGACTGGAAA	0.587													85	82					0	0	0	0	T	182897459	C	T	182897459	3	4	267	1	0	0	0	0	1	0	0	0	9449	855	30	2	225	2	MCF2L2	3	182897459	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	3980513	182897459	15124971	41	47539											
RFC4	5984	broad.mit.edu	37	chr3	186518927	186518927	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgctccttctaaagatttTttcagcactgcaaccacttc	9	15	4	13	0	3	1	1	0	2	1	5	1	4	1	2	0	4	3	2	0	3	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:186518927T>G	ENST00000392481.2	-	3	470	c.189A>C	c.(187-189)aaA>aaC	p.K63N	RFC4_ENST00000296273.2_Missense_Mutation_p.K63N|RFC4_ENST00000433496.1_Missense_Mutation_p.K63N	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	63					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTAAAGATTTTTTCAGCACTG	0.378													24	106					0	0	0	0	G	186518927	T	G	186518927	3	3	267	1	0	0	0	0	1	0	0	0	13329	1838	64	5	938	5	RFC4	3	186518927	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	3621468	186518927	11503503	42	47540											
MFI2	4241	broad.mit.edu	37	chr3	196735690	196735690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgggtacctgaaggcgcCgcggtagccgtaataccgct	8	6	13	14	6	0	1	0	1	0	0	0	1	0	1	5	3	3	4	5	3	5	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:196735690C>T	ENST00000296350.5	-	12	1785	c.1672G>A	c.(1672-1674)Ggc>Agc	p.G558S		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	558	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CTGAAGGCGCCGCGGTAGCCG	0.672													26	60					0	0	0	0	T	196735690	C	T	196735690	3	4	267	1	0	0	0	0	1	0	0	0	9591	652	23	1	564	1	MFI2	3	196735690	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	10216763	196735690	1286740	43	47541											
DRD5	1816	broad.mit.edu	37	chr4	9784899	9784899	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacatccacatgatgcccAacgccgttacccccggcaac	10	6	6	19	3	0	1	0	1	0	0	1	1	1	1	6	1	5	2	6	1	4	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:9784899A>C	ENST00000304374.2	+	1	1642	c.1246A>C	c.(1246-1248)Aac>Cac	p.N416H		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	416					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CATGATGCCCAACGCCGTTAC	0.567													19	48					0	0	0	0	C	9784899	A	C	9784899	3	2	267	1	0	0	0	0	1	0	0	0	4796	130	5	5	1248	5	DRD5	4	9784899	Missense_Mutation	SNP	A	TCGA-CV-6956-01A-21D-2012-08		9784899	181369377	44	47542											
LCORL	254251	broad.mit.edu	37	chr4	17910776	17910776	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctaaggggccttcctgcTcttcctgaagggagttttct	5	14	12	10	0	3	1	0	1	3	0	5	2	5	2	3	4	1	2	3	4	2	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:17910776T>A	ENST00000382226.5	-	5	731	c.623A>T	c.(622-624)gAg>gTg	p.E208V	LCORL_ENST00000326877.3_Missense_Mutation_p.E208V|LCORL_ENST00000382224.1_Missense_Mutation_p.E124V|LCORL_ENST00000539056.1_Missense_Mutation_p.E121V	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCCTTCCTGCTCTTCCTGAAG	0.348													28	42					0	0	0	0	A	17910776	T	A	17910776	3	1	267	1	0	0	0	0	1	0	0	0	8743	1551	54	5	1382	5	LCORL	4	17910776	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	8125877	17910776	173243500	45	47543											
SLIT2	9353	broad.mit.edu	37	chr4	20619185	20619185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccatgccaggcgatcaaGtgcaagcatgggaagtgcag	13	5	13	10	1	1	0	1	0	0	0	1	2	1	1	2	2	5	3	2	2	4	0	rs111791287		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:20619185G>T	ENST00000504154.1	+	36	4512	c.4260G>T	c.(4258-4260)aaG>aaT	p.K1420N	SLIT2_ENST00000273739.5_Missense_Mutation_p.K1433N|SLIT2_ENST00000503837.1_Missense_Mutation_p.K1416N|SLIT2_ENST00000503823.1_Missense_Mutation_p.K1412N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1420					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGGCGATCAAGTGCAAGCATG	0.557													13	15					5.50884e-06	5.94779e-06	1	0	T	20619185	G	T	20619185	3	4	267	1	0	0	0	0	1	0	0	0	14828	1020	36	4	4402	4	SLIT2	4	20619185	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	2708409	20619185	170535091	46	47544											
RCHY1	25898	broad.mit.edu	37	chr4	76407873	76407873	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccattacagtcattgcagaGaatctgaaaagagattaatt	16	12	7	6	0	2	3	1	1	1	2	3	5	3	3	1	0	2	1	1	0	5	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:76407873G>C	ENST00000324439.5	-	9	1059	c.661C>G	c.(661-663)Ctc>Gtc	p.L221V	RCHY1_ENST00000512706.1_Missense_Mutation_p.L199V|RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000380840.2_Missense_Mutation_p.L181V|RCHY1_ENST00000513257.1_Missense_Mutation_p.L212V	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	221					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.L221I(1)		large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCATTGCAGAGAATCTGAAAA	0.318													7	17					0	0	0	0	C	76407873	G	C	76407873	3	2	267	1	0	0	0	0	1	0	0	0	13259	942	33	2	128	2	RCHY1	4	76407873	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	55788688	76407873	114746403	47	47545											
ENPEP	2028	broad.mit.edu	37	chr4	111398004	111398004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggatcacccggctccCggagctgaagaggccctctg	8	5	13	15	2	2	2	1	1	1	1	3	5	3	4	4	4	1	2	4	4	1	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:111398004C>A	ENST00000265162.5	+	1	776	c.434C>A	c.(433-435)cCg>cAg	p.P145Q		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	145					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACCCGGCTCCCGGAGCTGAAG	0.627													51	108					2.52991e-16	3.04713e-16	1	0	A	111398004	C	A	111398004	3	1	267	1	0	0	0	0	1	0	0	0	5166	652	23	3	436	3	ENPEP	4	111398004	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	34990131	111398004	79756272	48	47546											
SEC24D	9871	broad.mit.edu	37	chr4	119649746	119649746	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatggcctcttttgttggatAatacccattatcattctgag	9	17	7	8	0	3	1	1	1	2	0	3	2	3	2	2	2	1	1	2	2	4	8			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:119649746A>T	ENST00000379735.5	-	22	3202	c.2931T>A	c.(2929-2931)atT>atA	p.I977I	SEC24D_ENST00000280551.6_Silent_p.I976I|SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000511481.1_Silent_p.I607I|SEC24D_ENST00000505134.1_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	976					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTTGTTGGATAATACCCATTA	0.308													7	25					0	0	0	0	T	119649746	A	T	119649746	2	4	267	1	0	0	0	0	0	0	0	1	14084	358	13	5		5	SEC24D	4	119649746	Silent	SNP	A	TCGA-CV-6956-01A-21D-2012-08	8251742	119649746	71504530	49	47547											
DCLK2	166614	broad.mit.edu	37	chr4	151168815	151168815	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggaagctggagtttccGgccccctactgggataacat	8	9	13	11	1	0	0	0	0	0	0	1	3	1	3	3	4	3	3	3	4	3	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:151168815G>A	ENST00000296550.7	+	13	2593	c.1839G>A	c.(1837-1839)ccG>ccA	p.P613P	DCLK2_ENST00000302176.8_Silent_p.P630P|DCLK2_ENST00000506325.1_Silent_p.P612P	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	613	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGAGTTTCCGGCCCCCTACT	0.512													12	25					0	0	0	0	A	151168815	G	A	151168815	2	1	267	1	0	0	0	0	0	0	0	1	4324	1103	39	1		1	DCLK2	4	151168815	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	31519069	151168815	39985461	50	47548											
WDR17	116966	broad.mit.edu	37	chr4	177077229	177077229	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttttgccttctattgtaGtgggacaaagccctgtcaat	8	15	8	10	0	2	0	1	0	1	0	2	1	2	1	3	1	2	1	3	1	4	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:177077229G>T	ENST00000393643.2	+	18	2712		c.e18-1		WDR17_ENST00000280190.4_Splice_Site|WDR17_ENST00000508596.1_Splice_Site|WDR17_ENST00000507824.2_Splice_Site	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTCTATTGTAGTGGGACAAAG	0.368													24	69					2.27525e-19	2.8027e-19	1	0	T	177077229	G	T	177077229	5	4	267	1	0	0	0	0	0	0	1	0	17373	1043	36	4	2602	4	WDR17	4	177077229	Splice_Site	SNP	G	TCGA-CV-6956-01A-21D-2012-08	25908414	177077229	14077047	51	47549											
FAT1	2195	broad.mit.edu	37	chr4	187538253	187538253	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcagttgccgtgatagtaAgaaggtaattgtcccttttt	10	15	9	7	1	1	2	1	1	0	1	2	2	2	2	2	1	1	3	2	1	4	7			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:187538253A>C	ENST00000441802.2	-	11	9190	c.8981T>G	c.(8980-8982)cTt>cGt	p.L2994R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2994	Cadherin 27.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTGATAGTAAGAAGGTAATT	0.413										HNSCC(5;0.00058)			13	23					0	0	0	0	C	187538253	A	C	187538253	3	2	267	1	0	0	0	0	1	0	0	0	5734	72	3	5	4853	5	FAT1	4	187538253	Missense_Mutation	SNP	A	TCGA-CV-6956-01A-21D-2012-08	10461024	187538253	3616023	52	47550											
DNAH5	1767	broad.mit.edu	37	chr5	13928288	13928288	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgatcaattctttcaatCtgggaaaaagaaaaaggcaa	18	10	8	5	0	4	2	2	1	2	1	4	3	4	3	0	2	0	2	0	2	7	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:13928288C>A	ENST00000265104.4	-	3	297		c.e3-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTTTCAATCTGGGAAAAAG	0.318									Kartagener syndrome				23	72					3.5997e-14	4.22302e-14	1	0	A	13928288	C	A	13928288	5	1	267	1	0	0	0	0	0	0	1	0	4641	927	32	2	13990	2	DNAH5	5	13928288	Splice_Site	SNP	C	TCGA-CV-6956-01A-21D-2012-08		13928288	166986972	53	47551											
NIPBL	25836	broad.mit.edu	37	chr5	37048756	37048756	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaagaagaagatacacgtAtgcagcaggcagatagagac	18	5	11	7	1	0	5	0	0	0	5	0	6	0	5	0	1	4	4	0	1	7	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:37048756A>G	ENST00000282516.8	+	39	7241	c.6742A>G	c.(6742-6744)Atg>Gtg	p.M2248V	NIPBL_ENST00000448238.2_Missense_Mutation_p.M2248V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2248					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGATACACGTATGCAGCAGGC	0.269													9	24					0	0	0	0	G	37048756	A	G	37048756	3	3	267	1	0	0	0	0	1	0	0	0	10498	449	16	5	6892	5	NIPBL	5	37048756	Missense_Mutation	SNP	A	TCGA-CV-6956-01A-21D-2012-08	23120468	37048756	143866504	54	47552											
LIFR	3977	broad.mit.edu	37	chr5	38482196	38482196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagagcgatcttcaggaCgctcagctactggggaaatt	11	9	11	10	2	4	1	3	0	1	1	4	4	4	3	0	3	3	2	0	3	2	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:38482196C>T	ENST00000263409.4	-	20	2957	c.2795G>A	c.(2794-2796)cGt>cAt	p.R932H	LIFR_ENST00000453190.2_Missense_Mutation_p.R932H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	932					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATCTTCAGGACGCTCAGCTAC	0.433			T	PLAG1	salivary adenoma								29	188					0	0	0	0	T	38482196	C	T	38482196	3	4	267	1	0	0	0	0	1	0	0	0	8834	536	19	1	502	1	LIFR	5	38482196	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	1433440	38482196	142433064	55	47553											
GPR98	84059	broad.mit.edu	37	chr5	90106737	90106737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttccattcatggaacattCagccttgggccatccattgt	8	14	8	11	0	2	0	2	0	0	0	4	1	4	1	4	2	2	1	4	2	1	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:90106737C>T	ENST00000405460.2	+	74	15756	c.15660C>T	c.(15658-15660)ttC>ttT	p.F5220F	GPR98_ENST00000425867.2_Silent_p.F881F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5220					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGGAACATTCAGCCTTGGGC	0.463													28	32					0	0	0	0	T	90106737	C	T	90106737	2	4	267	1	0	0	0	0	0	0	0	1	6771	825	29	2		2	GPR98	5	90106737	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	51624541	90106737	90808523	56	47554											
NR2F1	7025	broad.mit.edu	37	chr5	92923999	92923999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgttgctggccgccgcCggcctgcatgcctcgcccat	2	7	13	19	6	0	0	0	0	0	0	1	0	0	0	7	2	3	3	7	2	0	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:92923999C>T	ENST00000327111.3	+	2	2527	c.840C>T	c.(838-840)gcC>gcT	p.A280A		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	280					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGGCCGCCGCCGGCCTGCATG	0.667													25	23					0	0	0	0	T	92923999	C	T	92923999	2	4	267	1	0	0	0	0	0	0	0	1	10698	639	23	1		1	NR2F1	5	92923999	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	2817262	92923999	87991261	57	47555											
SLC27A6	28965	broad.mit.edu	37	chr5	128302163	128302163	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggacacggtggctctgctGatgagcaatgagccggactt	8	8	16	9	2	1	3	0	3	1	0	1	5	1	5	1	5	3	3	1	5	1	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:128302163G>A	ENST00000262462.4	+	1	1343	c.333G>A	c.(331-333)ctG>ctA	p.L111L	SLC27A6_ENST00000506176.1_Silent_p.L111L|SLC27A6_ENST00000395266.1_Silent_p.L111L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	111					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGGCTCTGCTGATGAGCAATG	0.552													13	10					0	0	0	0	A	128302163	G	A	128302163	2	1	267	1	0	0	0	0	0	0	0	1	14618	1277	45	2		2	SLC27A6	5	128302163	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	35378164	128302163	52613097	58	47556											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769259	140769259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggacacaacgcctggctgtCctaccacgtgctgcaggcta	9	7	11	14	2	0	0	0	0	0	0	1	1	1	1	3	3	4	4	3	3	3	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:140769259C>T	ENST00000519479.1	+	1	1808	c.1808C>T	c.(1807-1809)tCc>tTc	p.S603F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGCTGTCCTACCACGTG	0.662													28	21					0	0	0	0	T	140769259	C	T	140769259	3	4	267	1	0	0	0	0	1	0	0	0	11636	855	30	2	1810	2	PCDHGB4	5	140769259	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	12467096	140769259	40146001	59	47557											
PDGFRB	5159	broad.mit.edu	37	chr5	149503837	149503837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgcaggcccccaacaGgttgaccacgttcaggtggg	7	9	14	11	1	1	1	1	1	0	0	1	1	1	1	3	5	2	3	3	5	1	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:149503837G>T	ENST00000261799.4	-	14	2468	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	667	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCCCAACAGGTTGACCACG	0.632			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								19	22					4.35082e-09	4.8722e-09	1	0	T	149503837	G	T	149503837	3	4	267	1	0	0	0	0	1	0	0	0	11733	991	35	4	1361	4	PDGFRB	5	149503837	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	8734578	149503837	31411423	60	47558											
CDX1	1044	broad.mit.edu	37	chr5	149562339	149562339	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttctcaggtaagactCggaccaaggacaagtaccgc	11	8	10	12	2	2	1	1	0	2	1	4	3	2	3	2	3	2	3	2	3	4	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:149562339C>A	ENST00000231656.8	+	2	536	c.454C>A	c.(454-456)Cgg>Agg	p.R152R		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTAAGACTCGGACCAAGGA	0.557													97	73					9.72315e-31	1.21427e-30	1	0	A	149562339	C	A	149562339	2	1	267	1	0	0	0	0	0	0	0	1	3211	875	31	3		3	CDX1	5	149562339	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	58502	149562339	31352921	61	47559											
RNF44	22838	broad.mit.edu	37	chr5	175956543	175956543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtctgctccgactgatGgctgtccgggttaaagcggt	6	10	14	11	4	1	1	0	1	1	0	3	2	3	1	2	3	3	3	2	3	2	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:175956543G>A	ENST00000274811.4	-	9	1641	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	RNF44_ENST00000537487.1_Missense_Mutation_p.H292Y	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	373							zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGACTGATGGCTGTCCGGG	0.647													22	25					0	0	0	0	A	175956543	G	A	175956543	3	1	267	1	0	0	0	0	1	0	0	0	13581	1348	47	4	193	4	RNF44	5	175956543	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	26394204	175956543	4958717	62	47560											
NSD1	64324	broad.mit.edu	37	chr5	176709523	176709523	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaagaagaatgcagagctCgaattcgctatgctcaagaa	16	8	10	7	2	1	5	1	1	0	4	3	6	1	5	0	0	3	4	0	0	7	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:176709523C>T	ENST00000439151.2	+	19	5995	c.5950C>T	c.(5950-5952)Cga>Tga	p.R1984*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1715*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1881*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1715*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1984	SET.		R -> Q (in SOTOSS; loss of enzyme activity).		negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGCAGAGCTCGAATTCGCTA	0.373			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			38	28					0	0	0	0	T	176709523	C	T	176709523	4	4	267	1	0	0	0	0	0	1	0	0	10740	876	31	1	6020	1	NSD1	5	176709523	Nonsense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	752980	176709523	4205737	63	47561											
GNB2L1	10399	broad.mit.edu	37	chr5	180666087	180666087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctccagaagcacagaGggatccatctggagagacag	12	6	12	11	0	1	3	0	0	1	3	3	6	3	5	3	2	2	1	3	2	1	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:180666087G>A	ENST00000512805.1	-	5	1024	c.616C>T	c.(616-618)Ctc>Ttc	p.L206F	GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000376817.4_Missense_Mutation_p.L162F|GNB2L1_ENST00000511900.1_Missense_Mutation_p.L158F|GNB2L1_ENST00000511566.1_Missense_Mutation_p.L206F	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	206					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding	p.L206I(1)		lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		GAAGCACAGAGGGATCCATCT	0.522													47	45					0	0	0	0	A	180666087	G	A	180666087	3	1	267	1	0	0	0	0	1	0	0	0	6569	1000	35	4	353	4	GNB2L1	5	180666087	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	3956564	180666087	249173	64	47562											
HIST1H3H	8357	broad.mit.edu	37	chr6	27778004	27778004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtacagtggctctccgcgaGattcgccgctaccagaagtc	8	8	12	13	4	1	2	0	0	1	2	4	3	1	2	3	2	2	3	3	2	3	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:27778004G>A	ENST00000369163.2	+	1	163	c.153G>A	c.(151-153)gaG>gaA	p.E51E		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	51					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						CTCTCCGCGAGATTCGCCGCT	0.627													29	53					0	0	0	0	A	27778004	G	A	27778004	2	1	267	1	0	0	0	0	0	0	0	1	7212	933	33	2		2	HIST1H3H	6	27778004	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08		27778004	143337063	65	47563											
ABCF1	23	broad.mit.edu	37	chr6	30546284	30546284	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctgattcaggatcagaGtgaggaagaggaggaggaag	14	5	17	5	0	2	4	2	2	0	2	2	9	2	9	1	5	1	0	1	5	2	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:30546284G>C	ENST00000326195.8	+	6	531	c.419G>C	c.(418-420)aGt>aCt	p.S140T	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.S140T	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	140					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CAGGATCAGAGTGAGGAAGAG	0.502													19	5					0	0	0	0	C	30546284	G	C	30546284	3	2	267	1	0	0	0	0	1	0	0	0	65	1029	36	4	441	4	ABCF1	6	30546284	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	2768280	30546284	140568783	66	47564											
BRD2	6046	broad.mit.edu	37	chr6	32947816	32947816	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaaacccagaagagattGagattgattttgaaacactc	16	11	7	7	0	1	5	1	3	0	3	2	7	1	5	1	0	2	0	1	0	3	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:32947816G>T	ENST00000395289.2	+	12	3759	c.2158G>T	c.(2158-2160)Gag>Tag	p.E720*	BRD2_ENST00000395287.1_Nonsense_Mutation_p.E720*|BRD2_ENST00000374831.4_Nonsense_Mutation_p.E685*|BRD2_ENST00000449085.2_Nonsense_Mutation_p.E638*|BRD2_ENST00000443797.2_Nonsense_Mutation_p.E565*|BRD2_ENST00000374825.4_Nonsense_Mutation_p.E685*			P25440	BRD2_HUMAN	bromodomain containing 2	685	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGAAGAGATTGAGATTGATTT	0.483													4	60					1.23904e-05	1.33246e-05	1	0	T	32947816	G	T	32947816	4	4	267	1	0	0	0	0	0	1	0	0	1510	1291	45	2	2091	2	BRD2	6	32947816	Nonsense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	2401532	32947816	138167251	67	47565											
DNAH8	1769	broad.mit.edu	37	chr6	38885712	38885712	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcagttgatgagtgcAacaggattcctgtggagcct	9	14	11	7	0	1	2	1	2	0	0	2	4	2	4	2	2	3	2	2	2	1	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:38885712A>G	ENST00000359357.3	+	68	9923	c.9669A>G	c.(9667-9669)gcA>gcG	p.A3223A	DNAH8_ENST00000449981.2_Silent_p.A3440A|DNAH8_ENST00000441566.1_Silent_p.A3187A					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGATGAGTGCAACAGGATTCC	0.333													3	43					0	0	0	0	G	38885712	A	G	38885712	2	3	267	1	0	0	0	0	0	0	0	1	4643	117	5	5		5	DNAH8	6	38885712	Silent	SNP	A	TCGA-CV-6956-01A-21D-2012-08	5937896	38885712	132229355	68	47566											
DEFB114	245928	broad.mit.edu	37	chr6	49928037	49928037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttcttcatacaatttctCagtgcagcaaatttttcttg	10	18	4	9	0	5	0	2	0	4	0	6	0	5	0	0	0	3	2	0	0	3	7			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:49928037C>T	ENST00000322066.3	-	2	177	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	60					defense response to bacterium	extracellular region				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TACAATTTCTCAGTGCAGCAA	0.378													12	24					0	0	0	0	T	49928037	C	T	49928037	3	4	267	1	0	0	0	0	1	0	0	0	4439	835	29	2	34	2	DEFB114	6	49928037	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	11042325	49928037	121187030	69	47567											
EYS	346007	broad.mit.edu	37	chr6	66205124	66205124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctattttagtgtttacaccCaaaaaccagcaatctctgta	13	14	4	10	0	2	0	0	0	2	0	3	0	2	0	2	0	3	3	2	0	7	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:66205124C>A	ENST00000503581.1	-	4	717	c.180G>T	c.(178-180)ttG>ttT	p.L60F	EYS_ENST00000393380.2_Missense_Mutation_p.L60F|EYS_ENST00000370616.2_Missense_Mutation_p.L60F|EYS_ENST00000370618.3_Missense_Mutation_p.L60F|EYS_ENST00000370621.3_Missense_Mutation_p.L60F|EYS_ENST00000342421.5_Missense_Mutation_p.L60F	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	60					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGTTTACACCCAAAAACCAGC	0.388													15	75					1.3612e-06	1.49954e-06	1	0	A	66205124	C	A	66205124	3	1	267	1	0	0	0	0	1	0	0	0	5370	593	21	4	9376	4	EYS	6	66205124	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	16277087	66205124	104909943	70	47568											
SYNCRIP	10492	broad.mit.edu	37	chr6	86324795	86324795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaataaccggctctaccgcgGggaggagcagccccacgacc	10	3	13	15	4	1	0	0	0	1	0	1	4	1	2	5	4	4	2	5	4	3	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:86324795G>A	ENST00000503906.1	-	1	157	c.158C>T	c.(157-159)cCc>cTc	p.P53L	SYNCRIP_ENST00000369622.3_Silent_p.P517P|SYNCRIP_ENST00000355238.6_Silent_p.P517P																							CTCTACCGCGGGGAGGAGCAG	0.577													85	45					0	0	0	0	A	86324795	G	A	86324795	3	1	267	1	0	0	0	0	1	0	0	0	15535	1219	43	4	370	4	SYNCRIP	6	86324795	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	20119671	86324795	84790272	71	47569											
RFX6	222546	broad.mit.edu	37	chr6	117198535	117198535	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactgctgtgtgcagctcCtgggcaagggcttgctagtc	7	10	14	10	0	0	1	0	0	0	1	2	1	1	1	1	2	4	6	1	2	3	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:117198535C>T	ENST00000332958.2	+	1	113	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	33					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTGCAGCTCCTGGGCAAGGG	0.667													15	6					0	0	0	0	T	117198535	C	T	117198535	2	4	267	1	0	0	0	0	0	0	0	1	13349	680	24	4		4	RFX6	6	117198535	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	30873740	117198535	53916532	72	47570											
FAM184A	79632	broad.mit.edu	37	chr6	119345399	119345399	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attcaacttgccttcataatCctcaattagtttcttccgtt	9	18	3	11	1	4	0	3	0	1	0	6	0	6	0	3	0	2	2	3	0	4	8			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:119345399C>G	ENST00000338891.7	-	2	1182	c.739G>C	c.(739-741)Gat>Cat	p.D247H	FAM184A_ENST00000522284.1_Missense_Mutation_p.D127H|FAM184A_ENST00000368475.4_Missense_Mutation_p.D127H|FAM184A_ENST00000521531.1_Missense_Mutation_p.D247H|FAM184A_ENST00000352896.5_Missense_Mutation_p.D127H|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	247										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CCTTCATAATCCTCAATTAGT	0.423													16	39					0	0	0	0	G	119345399	C	G	119345399	3	3	267	1	0	0	0	0	1	0	0	0	5553	855	30	2	2751	2	FAM184A	6	119345399	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	2146864	119345399	51769668	73	47571											
ULBP2	80328	broad.mit.edu	37	chr6	150263229	150263229	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcagcagccgccgctacCaagatccttctgtgcctccc	7	8	9	17	2	1	1	0	0	1	1	3	1	3	1	6	1	4	3	6	1	2	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:150263229C>A	ENST00000367351.3	+	1	94	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	7					antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCGCCGCTACCAAGATCCTTC	0.607													18	7					1.33834e-09	1.51121e-09	1	0	A	150263229	C	A	150263229	2	1	267	1	0	0	0	0	0	0	0	1	17069	581	21	4		4	ULBP2	6	150263229	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	30917830	150263229	20851838	74	47572											
PDE10A	10846	broad.mit.edu	37	chr6	165862443	165862443	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctccaaggaaatacagTgcaaatccatcggcttttgt	12	11	7	11	1	1	0	0	0	1	0	4	1	2	1	2	2	2	2	2	2	4	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:165862443T>A	ENST00000366882.1	-	6	493	c.339A>T	c.(337-339)gcA>gcT	p.A113A	PDE10A_ENST00000354448.4_Silent_p.A113A|PDE10A_ENST00000539869.2_Silent_p.A123A			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	113	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GGAAATACAGTGCAAATCCAT	0.368													23	38					0	0	0	0	A	165862443	T	A	165862443	2	1	267	1	0	0	0	0	0	0	0	1	11701	1683	59	5		5	PDE10A	6	165862443	Silent	SNP	T	TCGA-CV-6956-01A-21D-2012-08	15599214	165862443	5252624	75	47573											
ZFAND2A	90637	broad.mit.edu	37	chr7	1197827	1197827	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttttctgaacaatgctTccccaaatcaggaaactcca	13	11	5	12	0	3	1	1	1	2	0	5	2	5	2	3	1	3	1	3	1	4	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:1197827T>G	ENST00000401903.1	-	2	281	c.22A>C	c.(22-24)Aag>Cag	p.K8Q	ZFAND2A_ENST00000316495.3_Missense_Mutation_p.K8Q			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	8						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		GAACAATGCTTCCCCAAATCA	0.408													48	230					0	0	0	0	G	1197827	T	G	1197827	3	3	267	1	0	0	0	0	1	0	0	0	17722	1792	62	5	431	5	ZFAND2A	7	1197827	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08		1197827	157940836	76	47574											
PKD1L1	168507	broad.mit.edu	37	chr7	47898336	47898336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttcctccttcgagttttCttgctcagagacttcccaga	7	14	7	13	1	2	2	1	0	1	2	6	5	5	2	3	0	1	2	3	0	0	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:47898336C>G	ENST00000289672.2	-	27	4347	c.4297G>C	c.(4297-4299)Gaa>Caa	p.E1433Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1433	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTCGAGTTTTCTTGCTCAGAG	0.438													16	57					0	0	0	0	G	47898336	C	G	47898336	3	3	267	1	0	0	0	0	1	0	0	0	12036	922	32	2	4376	2	PKD1L1	7	47898336	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	46700509	47898336	111240327	77	47575											
ASB4	51666	broad.mit.edu	37	chr7	95157465	95157465	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgctggaagctggcgcCgaagccaatctcatggatat	11	9	12	9	2	1	1	1	1	1	0	2	4	1	3	2	3	3	2	2	3	4	1	rs146416403	by1000genomes	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:95157465C>A	ENST00000325885.5	+	3	899	c.828C>A	c.(826-828)gcC>gcA	p.A276A	ASB4_ENST00000428113.1_Silent_p.A276A	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	276					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AAGCTGGCGCCGAAGCCAATC	0.577											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	35					8.10497e-08	9.00183e-08	1	0	A	95157465	C	A	95157465	2	1	267	1	0	0	0	0	0	0	0	1	1029	639	23	3		3	ASB4	7	95157465	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	47259129	95157465	63981198	78	47576											
CHRM2	1129	broad.mit.edu	37	chr7	136700385	136700385	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacgatggcctggagcacaAcaaaatccagaatggcaaag	16	5	11	9	1	0	2	0	1	0	1	1	4	1	3	2	3	2	2	2	3	5	0	rs142006633	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:136700385A>G	ENST00000445907.2	+	3	1301	c.773A>G	c.(772-774)aAc>aGc	p.N258S	AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.N258S|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.N258S|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.N258S|CHRM2_ENST00000320658.5_Missense_Mutation_p.N258S|CHRM2_ENST00000401861.1_Missense_Mutation_p.N258S|AC009264.1_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	258					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CTGGAGCACAACAAAATCCAG	0.512													10	19					0	0	0	0	G	136700385	A	G	136700385	3	3	267	1	0	0	0	0	1	0	0	0	3406	43	2	5	775	5	CHRM2	7	136700385	Missense_Mutation	SNP	A	TCGA-CV-6956-01A-21D-2012-08	41542920	136700385	22438278	79	47577											
MGAM	8972	broad.mit.edu	37	chr7	141730195	141730195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatattgattatatggatGagagaagggacttcacttat	13	14	10	4	0	1	4	1	3	0	1	1	7	1	6	0	2	0	0	0	2	5	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:141730195G>A	ENST00000475668.2	+	11	1309	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	MGAM_ENST00000549489.2_Missense_Mutation_p.E419K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	419	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTATATGGATGAGAGAAGGGA	0.348													7	13					0	0	0	0	A	141730195	G	A	141730195	3	1	267	1	0	0	0	0	1	0	0	0	9610	1291	45	2	1293	2	MGAM	7	141730195	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	5029810	141730195	17408468	80	47578											
PTPRN2	5799	broad.mit.edu	37	chr7	157959789	157959789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggcctctgggcagcataGgcactgagggccgccatcag	7	5	17	12	1	2	1	1	1	1	0	2	1	2	1	3	5	1	3	3	5	1	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:157959789G>A	ENST00000389413.3	-	6	847	c.744C>T	c.(742-744)gcC>gcT	p.A248A	PTPRN2_ENST00000409483.1_Silent_p.A210A|PTPRN2_ENST00000404321.2_Silent_p.A271A|PTPRN2_ENST00000389418.4_Silent_p.A248A|PTPRN2_ENST00000389416.4_Silent_p.A231A	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	248						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGCAGCATAGGCACTGAGGG	0.662													13	12					0	0	0	0	A	157959789	G	A	157959789	2	1	267	1	0	0	0	0	0	0	0	1	12890	987	35	4		4	PTPRN2	7	157959789	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	16229594	157959789	1178874	81	47579											
DUSP26	78986	broad.mit.edu	37	chr8	33451188	33451188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cataggcctcgggcgtgcctCgccaccggctgtgtgaggca	5	7	15	14	4	0	1	0	1	0	0	2	1	0	1	4	4	1	2	4	4	1	1	rs141858173		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:33451188C>T	ENST00000256261.4	-	3	816	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	DUSP26_ENST00000523956.1_Missense_Mutation_p.R100Q	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	100	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GGGCGTGCCTCGCCACCGGCT	0.632													10	34					0	0	0	0	T	33451188	C	T	33451188	3	4	267	1	0	0	0	0	1	0	0	0	4859	884	31	1	344	1	DUSP26	8	33451188	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08		33451188	112912834	82	47580											
PRDM14	63978	broad.mit.edu	37	chr8	70978695	70978695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatccagttccccgtacCtccttttccatctataaagt	9	13	5	14	1	1	0	0	0	1	0	5	1	5	1	6	1	1	2	6	1	4	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:70978695C>T	ENST00000276594.2	-	5	1159	c.958G>A	c.(958-960)Ggt>Agt	p.G320S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	320	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TTCCCCGTACCTCCTTTTCCA	0.408													36	50					0	0	0	0	T	70978695	C	T	70978695	3	4	267	1	0	0	0	0	1	0	0	0	12535	681	24	4	773	4	PRDM14	8	70978695	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	37527507	70978695	75385327	83	47581											
TMEM67	91147	broad.mit.edu	37	chr8	94821068	94821068	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaattctttaacttttcagGaaaatttgtgtagccagaga	14	15	7	5	0	2	1	1	0	1	1	2	3	2	2	1	1	2	1	1	1	6	8			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:94821068G>A	ENST00000453321.3	+	24	2498	c.2439_splice	c.e24-1	p.E814_splice	TMEM67_ENST00000409623.3_Splice_Site_p.E733_splice	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	814					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AACTTTTCAGGAAAATTTGTG	0.308													4	18					0	0	0	0	A	94821068	G	A	94821068	5	1	267	1	0	0	0	0	0	0	1	0	16290	1188	41	2	2672	2	TMEM67	8	94821068	Splice_Site	SNP	G	TCGA-CV-6956-01A-21D-2012-08	23842373	94821068	51542954	84	47582											
TSPYL5	85453	broad.mit.edu	37	chr8	98289495	98289495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccgtcgctgggggccccGaccctgcatccctctcttcc	2	10	9	20	3	1	0	0	0	1	0	6	1	4	0	6	2	1	2	6	2	0	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:98289495G>A	ENST00000322128.3	-	1	681	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	193					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGGGGGCCCCGACCCTGCATC	0.622													24	96					0	0	0	0	A	98289495	G	A	98289495	3	1	267	1	0	0	0	0	1	0	0	0	16757	1059	37	1	679	1	TSPYL5	8	98289495	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	3468427	98289495	48074527	85	47583											
RRM2B	50484	broad.mit.edu	37	chr8	103236307	103236307	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctatctgctatccatcgcaAggcccaatctgcttttttct	7	16	5	13	1	4	0	0	0	4	0	6	0	5	0	2	1	2	3	2	1	4	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:103236307A>G	ENST00000251810.3	-	5	760	c.517T>C	c.(517-519)Ttg>Ctg	p.L173L	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Silent_p.L121L	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	173					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			ATCCATCGCAAGGCCCAATCT	0.333								Modulation of nucleotide pools					66	82					0	0	0	0	G	103236307	A	G	103236307	2	3	267	1	0	0	0	0	0	0	0	1	13768	69	3	5		5	RRM2B	8	103236307	Silent	SNP	A	TCGA-CV-6956-01A-21D-2012-08	4946812	103236307	43127715	86	47584											
PKHD1L1	93035	broad.mit.edu	37	chr8	110461669	110461669	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatgtgcaattgacaggcTtagatctgattacacaacac	15	10	8	8	0	1	4	0	2	1	2	1	4	1	4	0	1	3	2	0	1	5	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:110461669T>A	ENST00000378402.5	+	40	6232	c.6128T>A	c.(6127-6129)cTt>cAt	p.L2043H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2043	IPT/TIG 13.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTGACAGGCTTAGATCTGAT	0.353										HNSCC(38;0.096)			5	5					0	0	0	0	A	110461669	T	A	110461669	3	1	267	1	0	0	0	0	1	0	0	0	12044	1609	56	5	6286	5	PKHD1L1	8	110461669	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	7225362	110461669	35902353	87	47585											
COL14A1	7373	broad.mit.edu	37	chr8	121256222	121256222	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacacggatggcgaaggcgtCagcgtctccgctcctggaaa	9	7	13	12	5	2	0	1	0	1	0	4	3	3	2	2	4	2	1	2	4	3	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:121256222C>T	ENST00000297848.3	+	20	2724	c.2454C>T	c.(2452-2454)gtC>gtT	p.V818V	COL14A1_ENST00000309791.4_Silent_p.V818V|COL14A1_ENST00000247781.3_Silent_p.V723V|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	818	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCGAAGGCGTCAGCGTCTCCG	0.498													15	153					0	0	0	0	T	121256222	C	T	121256222	2	4	267	1	0	0	0	0	0	0	0	1	3701	813	29	2		2	COL14A1	8	121256222	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	10794553	121256222	25107800	88	47586											
DOCK8	81704	broad.mit.edu	37	chr9	289552	289552	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggactgtgttcagacctaCatccgtgagtggctaatcgt	9	11	12	9	2	1	2	1	1	0	1	3	3	2	3	2	2	1	2	2	2	2	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:289552C>T	ENST00000432829.2	+	4	487	c.171C>T	c.(169-171)taC>taT	p.Y57Y	DOCK8_ENST00000469391.1_Silent_p.Y57Y|DOCK8_ENST00000453981.1_Silent_p.Y125Y	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	125					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTCAGACCTACATCCGTGAGT	0.333													9	47					0	0	0	0	T	289552	C	T	289552	2	4	267	1	0	0	0	0	0	0	0	1	4729	489	17	4		4	DOCK8	9	289552	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08		289552	140923879	89	47587											
SYK	6850	broad.mit.edu	37	chr9	93650843	93650843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgttagagaaaggagagcGgatggggtgccctgcagggt	10	8	18	5	1	0	2	0	0	0	2	0	5	0	3	1	5	3	2	1	5	3	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:93650843G>A	ENST00000375754.4	+	13	1917	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q	SYK_ENST00000375746.1_Missense_Mutation_p.R590Q|SYK_ENST00000375751.4_Missense_Mutation_p.R567Q|SYK_ENST00000375747.1_Missense_Mutation_p.R567Q	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	590	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAAGGAGAGCGGATGGGGTGC	0.438			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								6	16					0	0	0	0	A	93650843	G	A	93650843	3	1	267	1	0	0	0	0	1	0	0	0	15529	1116	39	1	1815	1	SYK	9	93650843	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	93361291	93650843	47562588	90	47588											
NCBP1	4686	broad.mit.edu	37	chr9	100403139	100403139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactgaagatcatttggaatCtttaatatgtaaagtaggag	16	13	9	3	0	2	2	1	1	1	1	2	4	2	4	0	2	1	2	0	2	8	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:100403139C>G	ENST00000375147.3	+	2	354	c.98C>G	c.(97-99)tCt>tGt	p.S33C		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	33	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	p.S33F(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CATTTGGAATCTTTAATATGT	0.358													28	51					0	0	0	0	G	100403139	C	G	100403139	3	3	267	1	0	0	0	0	1	0	0	0	10281	913	32	2	104	2	NCBP1	9	100403139	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	6752296	100403139	40810292	91	47589											
OR1J2	26740	broad.mit.edu	37	chr9	125273891	125273891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taagcagttctattgacaagGatgtcattgtggctctcatg	10	14	10	7	0	3	1	2	1	2	0	4	2	3	2	0	2	1	3	0	2	3	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:125273891G>A	ENST00000335302.5	+	1	811	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TATTGACAAGGATGTCATTGT	0.473													62	126					0	0	0	0	A	125273891	G	A	125273891	3	1	267	1	0	0	0	0	1	0	0	0	11031	1174	41	2	813	2	OR1J2	9	125273891	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	24870752	125273891	15939540	92	47590											
DENND1A	57706	broad.mit.edu	37	chr9	126144077	126144077	+	Frame_Shift_Del	DEL	G	G	-																															aggttgggcatggagagggcGgagaggttgggctgagacct																										TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:126144077delG	ENST00000373624.2	-	22	2865	c.2664delC	c.(2662-2664)tcfs	p.S888fs	DENND1A_ENST00000394219.3_Frame_Shift_Del_p.S899fs|DENND1A_ENST00000542603.1_Frame_Shift_Del_p.S673fs|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	888	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGGAGAGGGCGGAGAGGTTGG	0.682													2	4	---	---	---	---					-	126144077	G	-	126144077	7	5	267	1	0	1	0	1	0	0	0	0	4463	1103	39	0	369	0	DENND1A	9	126144077	Frame_Shift_Del	DEL	G	TCGA-CV-6956-01A-21D-2012-08	870186	126144077	15069354	93	47591											
TTC16	158248	broad.mit.edu	37	chr9	130482360	130482360	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccctgtgtccccagggaCaatgcctttttgagcagtgt	6	12	11	12	0	0	1	0	1	0	0	2	2	2	2	5	1	2	1	5	1	1	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:130482360C>T	ENST00000373289.3	+	5	510	c.430C>T	c.(430-432)Caa>Taa	p.Q144*	PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_5'UTR|PTRH1_ENST00000429848.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	144							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TCCCCAGGGACAATGCCTTTT	0.577													45	51					0	0	0	0	T	130482360	C	T	130482360	4	4	267	1	0	0	0	0	0	1	0	0	16779	479	17	4	448	4	TTC16	9	130482360	Nonsense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	4338283	130482360	10731071	94	47592											
SEC16A	9919	broad.mit.edu	37	chr9	139366454	139366454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgttccgaggagtggCtggctcgggagctgggccgc	3	7	20	11	4	0	0	0	0	0	0	2	3	1	2	3	6	1	4	3	6	0	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:139366454C>T	ENST00000313050.7	-	2	3750	c.3677G>A	c.(3676-3678)aGc>aAc	p.S1226N	SEC16A_ENST00000290037.6_Missense_Mutation_p.S1048N|SEC16A_ENST00000371706.3_Missense_Mutation_p.S1048N|SEC16A_ENST00000431893.2_Missense_Mutation_p.S1048N	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1048	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CGAGGAGTGGCTGGCTCGGGA	0.637													33	37					0	0	0	0	T	139366454	C	T	139366454	3	4	267	1	0	0	0	0	1	0	0	0	14073	797	28	4	3512	4	SEC16A	9	139366454	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	8884094	139366454	1846977	95	47593											
ENTPD8	377841	broad.mit.edu	37	chr9	140330690	140330690	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtggtctggtagccgctGaggtagcacgggtgacggag	7	8	19	7	3	1	2	0	2	1	0	1	3	1	3	1	5	2	4	1	5	2	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:140330690G>A	ENST00000371506.2	-	7	1008	c.825C>T	c.(823-825)ctC>ctT	p.L275L	ENTPD8_ENST00000344119.2_Silent_p.L275L|ENTPD8_ENST00000472938.1_Silent_p.L275L	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	275						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGTAGCCGCTGAGGTAGCACG	0.706													12	32					0	0	0	0	A	140330690	G	A	140330690	2	1	267	1	0	0	0	0	0	0	0	1	5183	1277	45	2		2	ENTPD8	9	140330690	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	964236	140330690	882741	96	47594											
ITGA8	8516	broad.mit.edu	37	chr10	15726024	15726024	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccggcaaggagagaactCggcataggcgctgaagttct	10	8	14	9	3	1	2	0	1	1	1	3	4	2	3	1	4	1	5	1	4	4	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:15726024C>A	ENST00000378076.3	-	4	900	c.547G>T	c.(547-549)Gag>Tag	p.E183*		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	183					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGAGAGAACTCGGCATAGGCG	0.458													16	42					3.45872e-05	3.70479e-05	1	0	A	15726024	C	A	15726024	4	1	267	1	0	0	0	0	0	1	0	0	7935	893	31	3	2752	3	ITGA8	10	15726024	Nonsense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08		15726024	119808723	97	47595											
ANKRD26	22852	broad.mit.edu	37	chr10	27366291	27366291	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataagaccagggtttgctaaCgacttgtgggaaggttttgg	10	12	14	5	1	0	1	0	0	0	1	0	3	0	2	1	4	2	3	1	4	3	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:27366291C>T	ENST00000376087.4	-	9	1218	c.1053G>A	c.(1051-1053)tcG>tcA	p.S351S	ANKRD26_ENST00000436985.2_Silent_p.S400S|ANKRD26_ENST00000466890.1_5'UTR	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	351						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GGTTTGCTAACGACTTGTGGG	0.403													38	58					0	0	0	0	T	27366291	C	T	27366291	2	4	267	1	0	0	0	0	0	0	0	1	654	523	19	1		1	ANKRD26	10	27366291	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	11640267	27366291	108168456	98	47596											
ARMC4	55130	broad.mit.edu	37	chr10	28196653	28196653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccttcacgtctgggtgaGgatttttcagcagggaccac	7	11	13	10	1	3	1	2	1	1	0	3	3	3	3	2	4	1	1	2	4	0	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:28196653G>A	ENST00000305242.5	-	17	2641	c.2549C>T	c.(2548-2550)cCt>cTt	p.P850L	ARMC4_ENST00000545014.1_Missense_Mutation_p.P375L|ARMC4_ENST00000537576.1_Missense_Mutation_p.P542L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	850							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTCTGGGTGAGGATTTTTCAG	0.443													18	40					0	0	0	0	A	28196653	G	A	28196653	3	1	267	1	0	0	0	0	1	0	0	0	957	1000	35	4	601	4	ARMC4	10	28196653	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	830362	28196653	107338094	99	47597											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43650762	43650762	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaaattatggtaaagaGtattatcaagccctcctaca	15	10	9	7	0	1	1	1	0	0	1	2	2	2	2	2	3	2	2	2	3	9	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:43650762G>A	ENST00000374466.3	+	2	500	c.165G>A	c.(163-165)gaG>gaA	p.E55E	CSGALNACT2_ENST00000374464.1_Silent_p.E55E	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	55					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATGGTAAAGAGTATTATCAAG	0.418													15	44					0	0	0	0	A	43650762	G	A	43650762	2	1	267	1	0	0	0	0	0	0	0	1	3971	1020	36	4		4	CSGALNACT2	10	43650762	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	15454109	43650762	91883985	100	47598											
GPRIN2	9721	broad.mit.edu	37	chr10	46999149	46999149	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccagtgctggaggccactGgtggagcagcactgtgggca	8	6	16	11	0	0	0	0	0	0	0	0	2	0	2	2	5	3	4	2	5	0	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:46999149G>C	ENST00000374314.4	+	1	1224	c.269G>C	c.(268-270)tGg>tCg	p.W90S	GPRIN2_ENST00000374317.1_Missense_Mutation_p.W90S			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	90										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGAGGCCACTGGTGGAGCAGC	0.667													9	58					0	0	0	0	C	46999149	G	C	46999149	3	2	267	1	0	0	0	0	1	0	0	0	6780	1357	47	4	271	4	GPRIN2	10	46999149	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	3348387	46999149	88535598	101	47599											
SUPV3L1	6832	broad.mit.edu	37	chr10	70962246	70962246	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaaatgtttgcctaccatCtccctgatgcaacactgtcc	9	13	6	13	0	1	2	0	2	1	0	3	2	2	2	4	0	4	2	4	0	3	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:70962246C>G	ENST00000359655.4	+	12	1630	c.1570C>G	c.(1570-1572)Ctc>Gtc	p.L524V		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	524					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCCTACCATCTCCCTGATGC	0.373													23	53					0	0	0	0	G	70962246	C	G	70962246	3	3	267	1	0	0	0	0	1	0	0	0	15492	913	32	2	1616	2	SUPV3L1	10	70962246	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	23963097	70962246	64572501	102	47600											
HTR7	3363	broad.mit.edu	37	chr10	92509226	92509226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcatcatttacattctgaGcccatccaaagagtggaggt	12	12	8	9	0	3	2	2	1	1	1	4	3	4	3	2	2	2	0	2	2	3	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:92509226G>C	ENST00000371721.3	-	2	907	c.665C>G	c.(664-666)gCt>gGt	p.A222G	HTR7_ENST00000336152.3_Missense_Mutation_p.A222G|HTR7_ENST00000371719.2_Missense_Mutation_p.A222G|HTR7_ENST00000277874.6_Missense_Mutation_p.A222G			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	222					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TACATTCTGAGCCCATCCAAA	0.483													40	58					0	0	0	0	C	92509226	G	C	92509226	3	2	267	1	0	0	0	0	1	0	0	0	7505	971	34	4	790	4	HTR7	10	92509226	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	21546980	92509226	43025521	103	47601											
CASP7	840	broad.mit.edu	37	chr10	115481445	115481445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggaacagacaaagatgccGaggcgctcttcaagtgcttc	12	7	11	11	3	2	2	1	0	1	2	3	4	2	3	1	2	3	2	1	2	3	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:115481445G>A	ENST00000369321.2	+	5	702	c.382G>A	c.(382-384)Gag>Aag	p.E128K	CASP7_ENST00000452490.2_Missense_Mutation_p.E70K|CASP7_ENST00000369315.1_Missense_Mutation_p.E95K|CASP7_ENST00000345633.4_Missense_Mutation_p.E95K|CASP7_ENST00000369318.3_Missense_Mutation_p.E95K|CASP7_ENST00000369331.4_Missense_Mutation_p.E95K|CASP7_ENST00000468790.1_3'UTR	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	95					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		CAAAGATGCCGAGGCGCTCTT	0.502													39	71					0	0	0	0	A	115481445	G	A	115481445	3	1	267	1	0	0	0	0	1	0	0	0	2701	1059	37	1	396	1	CASP7	10	115481445	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	22972219	115481445	20053302	104	47602											
MMP21	118856	broad.mit.edu	37	chr10	127462419	127462419	+	Silent	SNP	G	G	T																															cctctcccaaagcccagcttGatgtcgaccgcggccccggg																										TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:127462419G>T	ENST00000368808.3	-	2	677	c.678C>A	c.(676-678)atC>atA	p.I226I		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	226					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGCCCAGCTTGATGTCGACCG	0.726													23	40					1.75199e-13	2.02901e-13	1	0	T	127462419	G	T	127462419	2	4	267	1	0	0	0	0	0	0	0	1	9729	1280	45	2		2	MMP21	10	127462419	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	11980974	127462419	8072328	105	47603	358	2									
MMP21	118856	broad.mit.edu	37	chr10	127462420	127462420	+	Missense_Mutation	SNP	A	A	T																															ctctcccaaagcccagcttgAtgtcgaccgcggccccgggg																										TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:127462420A>T	ENST00000368808.3	-	2	676	c.677T>A	c.(676-678)aTc>aAc	p.I226N		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	226					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCCCAGCTTGATGTCGACCGC	0.726													22	41					0	0	0	0	T	127462420	A	T	127462420	3	4	267	1	0	0	0	0	1	0	0	0	9729	333	12	5	1056	5	MMP21	10	127462420	Missense_Mutation	SNP	A	TCGA-CV-6956-01A-21D-2012-08	1	127462420	8072327	106	47604	358	2									
SAA4	6291	broad.mit.edu	37	chr11	18257396	18257396	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaccttggagagcctcCttgaaaaacgaacgccagct	11	10	8	12	2	1	2	0	1	1	1	2	4	2	2	4	1	5	1	4	1	4	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:18257396C>T	ENST00000278222.4	-	2	258	c.78G>A	c.(76-78)aaG>aaA	p.K26K	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive											haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GGAGAGCCTCCTTGAAAAACG	0.493													24	79					0	0	0	0	T	18257396	C	T	18257396	2	4	267	1	0	0	0	0	0	0	0	1	13885	680	24	4		4	SAA4	11	18257396	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08		18257396	116749120	107	47605											
NAV2	89797	broad.mit.edu	37	chr11	20083856	20083856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttcttttaatagttcAtggatcctcactctccttgg	6	21	5	9	0	4	0	2	0	2	0	6	1	5	1	2	2	0	1	2	2	2	8			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:20083856A>G	ENST00000396085.1	+	20	5196	c.4835A>G	c.(4834-4836)cAt>cGt	p.H1612R	NAV2_ENST00000396087.3_Missense_Mutation_p.H1668R|NAV2_ENST00000349880.4_Missense_Mutation_p.H1612R|NAV2_ENST00000527559.2_Missense_Mutation_p.H1597R|NAV2_ENST00000540292.1_Missense_Mutation_p.H1599R|NAV2_ENST00000360655.4_Missense_Mutation_p.H1548R|NAV2_ENST00000311043.8_Missense_Mutation_p.H676R|NAV2_ENST00000533917.1_Missense_Mutation_p.H676R	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1668	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TTAATAGTTCATGGATCCTCA	0.423													11	50					0	0	0	0	G	20083856	A	G	20083856	3	3	267	1	0	0	0	0	1	0	0	0	10254	217	8	5	5022	5	NAV2	11	20083856	Missense_Mutation	SNP	A	TCGA-CV-6956-01A-21D-2012-08	1826460	20083856	114922660	108	47606											
TRIM48	79097	broad.mit.edu	37	chr11	55032387	55032387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcctcagaaacatgaattCtggaatctcgcaagtcttcc	11	12	6	12	1	4	2	1	1	3	1	7	3	6	3	2	1	1	1	2	1	4	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:55032387C>T	ENST00000417545.2	+	2	142	c.56C>T	c.(55-57)tCt>tTt	p.S19F		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	3						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AACATGAATTCTGGAATCTCG	0.463													89	188					0	0	0	0	T	55032387	C	T	55032387	3	4	267	1	0	0	0	0	1	0	0	0	16618	913	32	2	62	2	TRIM48	11	55032387	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	34948531	55032387	79974129	109	47607											
OR5D16	390144	broad.mit.edu	37	chr11	55606573	55606573	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtagtgactgaattaattCtatttgcggtgatggcctat	9	17	10	5	1	1	3	0	3	1	0	1	3	1	3	1	2	1	1	1	2	5	7			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:55606573C>G	ENST00000378396.1	+	1	346	c.346C>G	c.(346-348)Cta>Gta	p.L116V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGAATTAATTCTATTTGCGGT	0.438													47	84					0	0	0	0	G	55606573	C	G	55606573	3	3	267	1	0	0	0	0	1	0	0	0	11227	912	32	2	348	2	OR5D16	11	55606573	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	574186	55606573	79399943	110	47608											
SYVN1	84447	broad.mit.edu	37	chr11	64897499	64897499	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaggcaggggcataccCatccagggaggagggaaggg	10	3	21	7	0	0	0	0	0	0	0	1	4	1	4	2	9	1	2	2	9	2	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:64897499C>A	ENST00000526060.1	-	13	1572	c.1380G>T	c.(1378-1380)atG>atT	p.M460I	SYVN1_ENST00000377190.3_Missense_Mutation_p.M461I|SYVN1_ENST00000307289.6_Missense_Mutation_p.M409I|SYVN1_ENST00000294256.8_Missense_Mutation_p.M460I			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	461	Pro-rich.				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGGGCATACCCATCCAGGGAG	0.647													7	14					5.18039e-06	5.61554e-06	1	0	A	64897499	C	A	64897499	3	1	267	1	0	0	0	0	1	0	0	0	15578	594	21	4	486	4	SYVN1	11	64897499	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	9290926	64897499	70109017	111	47609											
SERPINH1	871	broad.mit.edu	37	chr11	75277799	75277799	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctgggcagccgactgtaCggacccagctcagtgagctt	9	7	13	12	2	1	1	1	1	0	0	1	3	1	2	2	2	5	5	2	2	2	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:75277799C>T	ENST00000524558.1	+	2	1840	c.405C>T	c.(403-405)taC>taT	p.Y135Y	SERPINH1_ENST00000533603.1_Silent_p.Y135Y|SERPINH1_ENST00000358171.3_Silent_p.Y135Y|SERPINH1_ENST00000530284.1_Silent_p.Y135Y			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	135					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GCCGACTGTACGGACCCAGCT	0.642													16	25					0	0	0	0	T	75277799	C	T	75277799	2	4	267	1	0	0	0	0	0	0	0	1	14204	547	19	1		1	SERPINH1	11	75277799	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	10380300	75277799	59728717	112	47610											
UBE4A	9354	broad.mit.edu	37	chr11	118267058	118267058	+	Missense_Mutation	SNP	C	C	T																															agatccctttaaccgtagtcCcctcaccatggaccagatcc																										TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:118267058C>T	ENST00000252108.3	+	20	3235	c.3104C>T	c.(3103-3105)cCc>cTc	p.P1035L	UBE4A_ENST00000431736.2_Missense_Mutation_p.P1042L|UBE4A_ENST00000545354.1_Missense_Mutation_p.P507L	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1035	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AACCGTAGTCCCCTCACCATG	0.418													23	42					0	0	0	0	T	118267058	C	T	118267058	3	4	267	1	0	0	0	0	1	0	0	0	16978	623	22	4	3199	4	UBE4A	11	118267058	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	42989259	118267058	16739458	113	47611	359	2									
UBE4A	9354	broad.mit.edu	37	chr11	118267059	118267059	+	Silent	SNP	C	C	T																															gatccctttaaccgtagtccCctcaccatggaccagatccg																										TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:118267059C>T	ENST00000252108.3	+	20	3236	c.3105C>T	c.(3103-3105)ccC>ccT	p.P1035P	UBE4A_ENST00000431736.2_Silent_p.P1042P|UBE4A_ENST00000545354.1_Silent_p.P507P	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1035	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACCGTAGTCCCCTCACCATGG	0.423													22	41					0	0	0	0	T	118267059	C	T	118267059	2	4	267	1	0	0	0	0	0	0	0	1	16978	610	22	4		4	UBE4A	11	118267059	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	1	118267059	16739457	114	47612	359	2									
SORL1	6653	broad.mit.edu	37	chr11	121444948	121444948	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtctttctatcccattttAgctaccaccatctgtgacct	7	17	4	13	0	3	1	0	1	3	0	4	1	4	1	4	0	2	1	4	0	3	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:121444948A>T	ENST00000260197.7	+	24	3466		c.e24-1		SORL1_ENST00000525532.1_Splice_Site	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATCCCATTTTAGCTACCACCA	0.418													52	107					0	0	0	0	T	121444948	A	T	121444948	5	4	267	1	0	0	0	0	0	0	1	0	15022	434	15	5	3430	5	SORL1	11	121444948	Splice_Site	SNP	A	TCGA-CV-6956-01A-21D-2012-08	3177889	121444948	13561568	115	47613											
HSPA8	3312	broad.mit.edu	37	chr11	122928593	122928593	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaaactttctccagctctTtctgttgatgttcaaattct	8	18	5	10	0	5	1	1	1	4	0	6	1	5	1	1	0	3	4	1	0	2	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:122928593T>A	ENST00000534624.1	-	9	2066	c.1790A>T	c.(1789-1791)aAa>aTa	p.K597I	HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.K597I|HSPA8_ENST00000534319.1_Missense_Mutation_p.K361I|HSPA8_ENST00000532636.1_Missense_Mutation_p.K597I|HSPA8_ENST00000533540.1_Missense_Mutation_p.K451I|HSPA8_ENST00000526110.1_Missense_Mutation_p.K578I	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	597					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTCCAGCTCTTTCTGTTGATG	0.463													53	88					0	0	0	0	A	122928593	T	A	122928593	3	1	267	1	0	0	0	0	1	0	0	0	7468	1841	64	5	154	5	HSPA8	11	122928593	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	1483645	122928593	12077923	116	47614											
OR10S1	219873	broad.mit.edu	37	chr11	123847492	123847492	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccttgttccgcaaagTgtaaatgaatgggttgagca	11	11	10	9	1	0	2	0	2	0	0	2	2	2	2	3	1	1	5	3	1	4	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:123847492T>A	ENST00000531945.1	-	1	996	c.907A>T	c.(907-909)Act>Tct	p.T303S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTCCGCAAAGTGTAAATGAAT	0.537													43	83					0	0	0	0	A	123847492	T	A	123847492	3	1	267	1	0	0	0	0	1	0	0	0	10989	1696	59	5	92	5	OR10S1	11	123847492	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	918899	123847492	11159024	117	47615											
APLP2	334	broad.mit.edu	37	chr11	130005458	130005458	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccctgtcttcatcagAtgagctccttcaggagcagc	7	10	9	15	0	4	2	3	1	1	1	5	3	5	3	3	1	4	2	3	1	0	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:130005458A>G	ENST00000263574.5	+	13	1757	c.1684_splice	c.e13-1	p.D562_splice	APLP2_ENST00000345598.5_Splice_Site_p.D333_splice|APLP2_ENST00000338167.5_Splice_Site_p.D562_splice|APLP2_ENST00000278756.7_Splice_Site_p.D572_splice|APLP2_ENST00000528499.1_Splice_Site_p.D506_splice|APLP2_ENST00000543137.1_Splice_Site_p.D469_splice|APLP2_ENST00000539648.1_Splice_Site_p.D350_splice	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	562					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TCTTCATCAGATGAGCTCCTT	0.587													45	83					0	0	0	0	G	130005458	A	G	130005458	5	3	267	1	0	0	0	0	0	0	1	0	781	347	12	5	1735	5	APLP2	11	130005458	Splice_Site	SNP	A	TCGA-CV-6956-01A-21D-2012-08	6157966	130005458	5001058	118	47616											
PLBD1	79887	broad.mit.edu	37	chr12	14706306	14706306	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatttttgacttgtactgtCttttcagcaggcatccagta	9	16	7	9	0	2	1	1	1	1	0	3	1	3	1	1	1	2	4	1	1	2	7			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:14706306C>G	ENST00000240617.5	-	2	808	c.156G>C	c.(154-156)aaG>aaC	p.K52N		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	52					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CTTGTACTGTCTTTTCAGCAG	0.413													26	38					0	0	0	0	G	14706306	C	G	14706306	3	3	267	1	0	0	0	0	1	0	0	0	12097	912	32	2	1545	2	PLBD1	12	14706306	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08		14706306	119145589	119	47617											
SLCO1A2	6579	broad.mit.edu	37	chr12	21467564	21467564	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatgccaatcattataggtCtatgcagtttggttccaaaa	13	13	7	8	0	2	0	1	0	1	0	3	0	3	0	2	2	2	3	2	2	7	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:21467564C>G	ENST00000307378.6	-	5	974	c.254G>C	c.(253-255)aGa>aCa	p.R85T	SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.R83T|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.R85T	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	85					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CATTATAGGTCTATGCAGTTT	0.328													19	41					0	0	0	0	G	21467564	C	G	21467564	3	3	267	1	0	0	0	0	1	0	0	0	14810	913	32	2	1806	2	SLCO1A2	12	21467564	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	6761258	21467564	112384331	120	47618											
ITPR2	3709	broad.mit.edu	37	chr12	26808679	26808679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttttctttatccccaaaagGaaagggctggtttacaactt	11	15	7	8	0	1	0	0	0	1	0	2	1	2	1	2	3	2	2	2	3	6	7			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:26808679G>A	ENST00000381340.3	-	20	2967	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	851					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCCCCAAAAGGAAAGGGCTGG	0.338													37	61					0	0	0	0	A	26808679	G	A	26808679	3	1	267	1	0	0	0	0	1	0	0	0	7974	1174	41	2	5706	2	ITPR2	12	26808679	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	5341115	26808679	107043216	121	47619											
FKBP11	51303	broad.mit.edu	37	chr12	49319149	49319149	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctcagcccggcacacCgccgcactgagcagcagcag	9	2	11	19	3	1	1	1	1	0	0	1	1	1	1	5	1	5	5	5	1	0	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:49319149C>A	ENST00000550765.1	-	1	461	c.63G>T	c.(61-63)gcG>gcT	p.A21A	FKBP11_ENST00000453172.2_Silent_p.A21A|AC073610.5_ENST00000537495.1_Intron|CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000552878.1_Silent_p.A21A|ARF3_ENST00000398092.4_Intron	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	21					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(3)|lung(1)	5						CCCGGCACACCGCCGCACTGa	0.697													3	25					0.00909568	0.0094805	1	0	A	49319149	C	A	49319149	2	1	267	1	0	0	0	0	0	0	0	1	5948	639	23	3		3	FKBP11	12	49319149	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	22510470	49319149	84532746	122	47620											
KRT78	196374	broad.mit.edu	37	chr12	53241878	53241878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgccacttcgtctccaggaCcttgttctgctgctccagga	6	12	9	14	1	2	0	0	0	2	0	5	2	3	2	4	2	3	3	4	2	0	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:53241878C>T	ENST00000359499.4	-	2	93	c.82G>A	c.(82-84)Gtc>Atc	p.V28I	KRT78_ENST00000304620.4_Missense_Mutation_p.V138I			Q8N1N4	K2C78_HUMAN	keratin 78	138	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GTCTCCAGGACCTTGTTCTGC	0.597													11	32					0	0	0	0	T	53241878	C	T	53241878	3	4	267	1	0	0	0	0	1	0	0	0	8543	507	18	4	1182	4	KRT78	12	53241878	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	3922729	53241878	80610017	123	47621											
MYO1A	4640	broad.mit.edu	37	chr12	57431381	57431381	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttgccaaaggccagctccCccgaggacatgctcagctcc	8	7	9	17	1	2	0	1	0	1	0	4	2	4	1	5	2	4	3	5	2	1	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:57431381C>G	ENST00000442789.2	-	20	2293	c.2006G>C	c.(2005-2007)gGg>gCg	p.G669A	MYO1A_ENST00000300119.3_Missense_Mutation_p.G669A|MYO1A_ENST00000544473.1_Missense_Mutation_p.G507A	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	669	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCCAGCTCCCCCGAGGACAT	0.512													107	229					0	0	0	0	G	57431381	C	G	57431381	3	3	267	1	0	0	0	0	1	0	0	0	10138	623	22	4	1165	4	MYO1A	12	57431381	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	4189503	57431381	76420514	124	47622											
OS9	10956	broad.mit.edu	37	chr12	58088661	58088661	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgcttaccaagggcctggGatccctgagttgttgagccc	6	10	12	13	0	0	2	0	2	0	0	1	3	1	3	5	2	3	3	5	2	2	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:58088661G>A	ENST00000315970.7	+	2	332	c.291G>A	c.(289-291)ggG>ggA	p.G97G	OS9_ENST00000439210.2_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000257966.8_Silent_p.G97G|OS9_ENST00000389142.5_Silent_p.G97G|OS9_ENST00000552285.1_Silent_p.G97G|OS9_ENST00000389146.6_Silent_p.G97G|OS9_ENST00000551035.1_Silent_p.G97G|OS9_ENST00000413095.2_Silent_p.G97G|OS9_ENST00000435406.2_Silent_p.G97G	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	97					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AAGGGCCTGGGATCCCTGAGT	0.522													20	41					0	0	0	0	A	58088661	G	A	58088661	2	1	267	1	0	0	0	0	0	0	0	1	11343	1161	41	2		2	OS9	12	58088661	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	657280	58088661	75763234	125	47623											
SRGAP1	57522	broad.mit.edu	37	chr12	64521813	64521813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaccgtggcctcaacaatGacagtcctgagcggaggcgc	11	5	13	12	3	1	3	1	2	0	1	2	4	2	4	3	3	3	0	3	3	3	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:64521813G>A	ENST00000355086.3	+	21	3237	c.2713G>A	c.(2713-2715)Gac>Aac	p.D905N	SRGAP1_ENST00000357825.3_Missense_Mutation_p.D882N|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D842N	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	905					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCTCAACAATGACAGTCCTGA	0.617													31	54					0	0	0	0	A	64521813	G	A	64521813	3	1	267	1	0	0	0	0	1	0	0	0	15235	1290	45	2	2795	2	SRGAP1	12	64521813	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	6433152	64521813	69330082	126	47624											
PTPRB	5787	broad.mit.edu	37	chr12	71002999	71002999	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccccagggtgtcactgcTatagatgaggctaaagttac	10	9	12	10	0	1	2	1	1	0	1	1	2	1	2	2	3	2	3	2	3	5	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:71002999T>G	ENST00000334414.6	-	4	873	c.829A>C	c.(829-831)Agc>Cgc	p.S277R	PTPRB_ENST00000550857.1_Missense_Mutation_p.S59R|PTPRB_ENST00000550358.1_Missense_Mutation_p.S277R|PTPRB_ENST00000538708.1_Missense_Mutation_p.S59R|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.S276R|PTPRB_ENST00000451516.2_Missense_Mutation_p.S59R|PTPRB_ENST00000261266.5_Missense_Mutation_p.S59R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	59	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTGTCACTGCTATAGATGAGG	0.498													3	67					0	0	0	0	G	71002999	T	G	71002999	3	3	267	1	0	0	0	0	1	0	0	0	12878	1522	53	5	5942	5	PTPRB	12	71002999	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	6481186	71002999	62848896	127	47625											
IKBIP	121457	broad.mit.edu	37	chr12	99020188	99020188	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagatcttcttcttcttgTctttttactgttctaatatt	7	22	5	7	0	6	1	0	0	6	1	6	2	6	1	0	1	1	1	0	1	3	11			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:99020188T>A	ENST00000299157.4	-	3	1027	c.654A>T	c.(652-654)agA>agT	p.R218S	IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	219					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CTTCTTCTTGTCTTTTTACTG	0.408													25	58					0	0	0	0	A	99020188	T	A	99020188	3	1	267	1	0	0	0	0	1	0	0	0	7662	1664	58	5	1243	5	IKBIP	12	99020188	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	28017189	99020188	34831707	128	47626											
ANO4	121601	broad.mit.edu	37	chr12	101520815	101520815	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacgaaaggagaggaagaaGaatggaaaagcacaccacaa	22	1	12	6	1	0	3	0	0	0	3	0	8	0	5	1	3	2	1	1	3	8	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:101520815G>C	ENST00000392979.3	+	26	3091	c.2730G>C	c.(2728-2730)aaG>aaC	p.K910N	ANO4_ENST00000392977.3_Missense_Mutation_p.K945N|ANO4_ENST00000550015.1_Missense_Mutation_p.K465N|ANO4_ENST00000299222.9_Missense_Mutation_p.K465N	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	945						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAGGAAGAAGAATGGAAAAG	0.488										HNSCC(74;0.22)			6	16					0	0	0	0	C	101520815	G	C	101520815	3	2	267	1	0	0	0	0	1	0	0	0	698	933	33	2	2828	2	ANO4	12	101520815	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	2500627	101520815	32331080	129	47627											
SELPLG	6404	broad.mit.edu	37	chr12	109017613	109017613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtctgtgcctccgtggcCgtcagtcgagttgtctgtgc	2	13	15	11	3	3	0	1	0	2	0	5	1	4	0	3	2	2	1	3	2	0	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:109017613C>T	ENST00000388962.3	-	3	600	c.441G>A	c.(439-441)acG>acA	p.T147T	SELPLG_ENST00000228463.6_Silent_p.T173T|SELPLG_ENST00000550948.1_Silent_p.T157T	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	157	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CCTCCGTGGCCGTCAGTCGAG	0.637													53	78					0	0	0	0	T	109017613	C	T	109017613	2	4	267	1	0	0	0	0	0	0	0	1	14107	639	23	1		1	SELPLG	12	109017613	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	7496798	109017613	24834282	130	47628											
CUX2	23316	broad.mit.edu	37	chr12	111746236	111746236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgtctcctagggcatGgccaagcctgaagactcact	8	10	9	14	0	3	2	1	1	2	1	4	2	3	2	4	2	1	1	4	2	3	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:111746236G>A	ENST00000261726.6	+	14	1318	c.1164G>A	c.(1162-1164)atG>atA	p.M388I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	388						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCTAGGGCATGGCCAAGCCTG	0.612													18	27					0	0	0	0	A	111746236	G	A	111746236	3	1	267	1	0	0	0	0	1	0	0	0	4097	1348	47	4	1218	4	CUX2	12	111746236	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	2728623	111746236	22105659	131	47629											
RNF10	9921	broad.mit.edu	37	chr12	121000765	121000765	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactcgggaagaggctctGtcgggattggccggaagcag	9	7	17	8	3	1	2	0	0	1	2	3	5	1	5	1	5	1	2	1	5	3	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:121000765G>T	ENST00000325954.4	+	8	1607	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L	RNF10_ENST00000413266.2_Silent_p.L382L	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	382					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGAGGCTCTGTCGGGATTGG	0.537													30	48					6.00712e-18	7.30014e-18	1	0	T	121000765	G	T	121000765	2	4	267	1	0	0	0	0	0	0	0	1	13507	1364	48	4		4	RNF10	12	121000765	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	9254529	121000765	12851130	132	47630											
HNF1A	6927	broad.mit.edu	37	chr12	121434487	121434487	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgaccatcgggcctggTgagcctgcctccctgggtcc	4	9	13	15	1	1	2	1	2	0	0	4	2	3	2	6	3	2	0	6	3	0	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:121434487T>A	ENST00000257555.6	+	6	1477	c.1251T>A	c.(1249-1251)ggT>ggA	p.G417G	HNF1A_ENST00000543427.1_Silent_p.G300G|HNF1A_ENST00000400024.2_Silent_p.G417G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Silent_p.G417G|HNF1A_ENST00000402929.1_Silent_p.G417G|HNF1A_ENST00000544413.1_Silent_p.G417G			P20823	HNF1A_HUMAN	HNF1 homeobox A	417					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCGGGCCTGGTGAGCCTGCCT	0.632									Hepatic Adenoma, Familial Clustering of				19	32					0	0	0	0	A	121434487	T	A	121434487	2	1	267	1	0	0	0	0	0	0	0	1	7301	1683	59	5		5	HNF1A	12	121434487	Silent	SNP	T	TCGA-CV-6956-01A-21D-2012-08	433722	121434487	12417408	133	47631											
WDR66	144406	broad.mit.edu	37	chr12	122361573	122361573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctttccttacaattggagGatgcagaaacagatgagctt	13	11	10	7	0	0	3	0	1	0	2	1	5	1	5	1	2	5	3	1	2	3	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:122361573G>A	ENST00000288912.4	+	3	1278	c.424G>A	c.(424-426)Gat>Aat	p.D142N	WDR66_ENST00000397454.2_Missense_Mutation_p.D142N	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	142							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ACAATTGGAGGATGCAGAAAC	0.363													23	61					0	0	0	0	A	122361573	G	A	122361573	3	1	267	1	0	0	0	0	1	0	0	0	17413	1174	41	2	430	2	WDR66	12	122361573	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	927086	122361573	11490322	134	47632											
POLE	5426	broad.mit.edu	37	chr12	133249289	133249289	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcccccgacgtaggtcTcagagtccagcacgtgtccg	6	7	13	15	5	1	1	1	0	1	1	4	2	3	1	4	2	1	2	4	2	1	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:133249289T>C	ENST00000320574.5	-	15	1653	c.1610A>G	c.(1609-1611)gAg>gGg	p.E537G	POLE_ENST00000535270.1_Missense_Mutation_p.E510G	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	537					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GACGTAGGTCTCAGAGTCCAG	0.577								DNA polymerases (catalytic subunits)					31	64					0	0	0	0	C	133249289	T	C	133249289	3	2	267	1	0	0	0	0	1	0	0	0	12268	1551	54	5	5390	5	POLE	12	133249289	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	10887716	133249289	602606	135	47633											
RNF17	56163	broad.mit.edu	37	chr13	25448319	25448319	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagattgttgccattaaagaAtttaatcctttatctatctt	13	18	4	6	0	2	2	0	0	2	2	3	2	3	2	2	0	1	1	2	0	7	9			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:25448319A>T	ENST00000255324.5	+	33	4567	c.4515A>T	c.(4513-4515)gaA>gaT	p.E1505D	RNF17_ENST00000339524.3_Missense_Mutation_p.E515D|RNF17_ENST00000381921.1_Missense_Mutation_p.E1463D	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1505	Tudor 4.				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)		CCATTAAAGAATTTAATCCTT	0.328													31	36					0	0	0	0	T	25448319	A	T	25448319	3	4	267	1	0	0	0	0	1	0	0	0	13546	98	4	5	4645	5	RNF17	13	25448319	Missense_Mutation	SNP	A	TCGA-CV-6956-01A-21D-2012-08		25448319	89721559	136	47634											
N4BP2L2	10443	broad.mit.edu	37	chr13	33111164	33111164	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatttcaccataagacaTctgagaaataaataaatcat	19	12	3	7	0	4	2	3	1	1	2	4	3	4	2	1	0	0	0	1	0	7	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:33111164T>A	ENST00000446957.2	-	1	0	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	N4BP2L2_ENST00000267068.3_Splice_Site_p.M1_splice|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Splice_Site_p.M1_splice			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	1										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CCATAAGACATCTGAGAAATA	0.289													10	14					0	0	0	0	A	33111164	T	A	33111164	1	1	267	1	0	0	0	0	0	0	0	0	10182	1449	50	5		5	N4BP2L2	13	33111164	Translation_Start_Site	SNP	T	TCGA-CV-6956-01A-21D-2012-08	7662845	33111164	82058714	137	47635											
NBEA	26960	broad.mit.edu	37	chr13	35619136	35619136	+	Silent	SNP	G	G	A																															agctacagcatcactgtcaaGgagttgaagcttttgttcag																										TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:35619136G>A	ENST00000540320.1	+	3	1113	c.579G>A	c.(577-579)aaG>aaA	p.K193K	NBEA_ENST00000379939.2_Silent_p.K193K|NBEA_ENST00000310336.4_Silent_p.K193K|NBEA_ENST00000400445.3_Silent_p.K193K			Q8NFP9	NBEA_HUMAN	neurobeachin	193						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCACTGTCAAGGAGTTGAAGC	0.418													9	14					0	0	0	0	A	35619136	G	A	35619136	2	1	267	1	0	0	0	0	0	0	0	1	10257	991	35	4		4	NBEA	13	35619136	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	2507972	35619136	79550742	138	47636	360	2									
NBEA	26960	broad.mit.edu	37	chr13	35619137	35619137	+	Missense_Mutation	SNP	G	G	A																															gctacagcatcactgtcaagGagttgaagcttttgttcagc																										TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:35619137G>A	ENST00000540320.1	+	3	1114	c.580G>A	c.(580-582)Gag>Aag	p.E194K	NBEA_ENST00000379939.2_Missense_Mutation_p.E194K|NBEA_ENST00000310336.4_Missense_Mutation_p.E194K|NBEA_ENST00000400445.3_Missense_Mutation_p.E194K			Q8NFP9	NBEA_HUMAN	neurobeachin	194						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CACTGTCAAGGAGTTGAAGCT	0.418													9	14					0	0	0	0	A	35619137	G	A	35619137	3	1	267	1	0	0	0	0	1	0	0	0	10257	1175	41	2	590	2	NBEA	13	35619137	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	1	35619137	79550741	139	47637	360	2									
PCDH8	5100	broad.mit.edu	37	chr13	53419596	53419596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgagatcctttttcagagCgtccccgctgatgtcggaat	8	12	11	10	3	1	3	1	2	0	2	4	6	3	4	3	1	1	1	3	1	1	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:53419596C>T	ENST00000377942.3	-	2	3006	c.2803G>A	c.(2803-2805)Gct>Act	p.A935T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A838T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	935					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTTTTCAGAGCGTCCCCGCTG	0.522													7	74					0	0	0	0	T	53419596	C	T	53419596	3	4	267	1	0	0	0	0	1	0	0	0	11588	768	27	1	417	1	PCDH8	13	53419596	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	17800459	53419596	61750282	140	47638											
MYCBP2	23077	broad.mit.edu	37	chr13	77632376	77632376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggctggtgctgccgagaGcgcttcggtgaaacatatca	10	9	13	9	3	1	2	1	1	0	1	2	3	1	2	1	3	4	3	1	3	3	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:77632376G>A	ENST00000407578.2	-	78	13572	c.13306C>T	c.(13306-13308)Ctc>Ttc	p.L4436F	MYCBP2_ENST00000544440.2_Missense_Mutation_p.L4398F|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L4398F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTGCCGAGAGCGCTTCGGTG	0.458													49	105					0	0	0	0	A	77632376	G	A	77632376	3	1	267	1	0	0	0	0	1	0	0	0	10088	971	34	4	754	4	MYCBP2	13	77632376	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	24212780	77632376	37537502	141	47639											
SLITRK5	26050	broad.mit.edu	37	chr13	88329860	88329860	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgcgggcccgcgctgccCaaggtgaagacgcccgcggg	6	2	16	17	7	0	2	0	1	0	1	0	2	0	2	4	3	1	1	4	3	2	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:88329860C>A	ENST00000325089.6	+	2	2436	c.2217C>A	c.(2215-2217)ccC>ccA	p.P739P	SLITRK5_ENST00000400028.3_Silent_p.P498P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	739						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCGCGCTGCCCAAGGTGAAGA	0.667													37	101					1.90571e-15	2.26512e-15	1	0	A	88329860	C	A	88329860	2	1	267	1	0	0	0	0	0	0	0	1	14834	581	21	4		4	SLITRK5	13	88329860	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	10697484	88329860	26840018	142	47640											
GPC6	10082	broad.mit.edu	37	chr13	95055462	95055462	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggcactgcagagactGtgcagataatcttgggtttt	8	13	12	8	0	1	2	0	0	1	2	2	3	2	2	1	2	2	4	1	2	1	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:95055462G>T	ENST00000377047.4	+	9	2274	c.1659G>T	c.(1657-1659)ctG>ctT	p.L553L		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	553						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGCAGAGACTGTGCAGATAAT	0.517													6	41					8.12818e-05	8.63819e-05	1	0	T	95055462	G	T	95055462	2	4	267	1	0	0	0	0	0	0	0	1	6651	1364	48	4		4	GPC6	13	95055462	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	6725602	95055462	20114416	143	47641											
DOCK9	23348	broad.mit.edu	37	chr13	99512635	99512635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtgatggtggagagaaGcccacaagagcatggagcgt	13	5	16	7	1	0	4	0	1	0	3	0	7	0	6	1	3	3	1	1	3	2	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr13:99512635G>A	ENST00000442173.1	-	33	3895	c.3721C>T	c.(3721-3723)Ctt>Ttt	p.L1241F	DOCK9_ENST00000448493.2_Intron|DOCK9_ENST00000376460.1_Intron|DOCK9_ENST00000339416.2_Intron|DOCK9_ENST00000461998.1_5'UTR	NM_001130049.1|NM_001130050.1	NP_001123521.1|NP_001123522.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	0					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTGGAGAGAAGCCCACAAGAG	0.547													6	5					0	0	0	0	A	99512635	G	A	99512635	3	1	267	1	0	0	0	0	1	0	0	0	4730	971	34	4	2642	4	DOCK9	13	99512635	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	4457173	99512635	15657243	144	47642											
DOCK9	23348	broad.mit.edu	37	chr13	99566619	99566619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtagctatctaaaccggaaCcagaaccttccaatttgctt	12	11	7	11	1	1	1	0	0	1	1	2	2	2	2	4	2	5	3	4	2	7	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:99566619C>T	ENST00000376460.1	-	9	1003	c.923G>A	c.(922-924)gGt>gAt	p.G308D	DOCK9_ENST00000339416.2_Missense_Mutation_p.G309D|DOCK9_ENST00000448493.2_Missense_Mutation_p.G320D|DOCK9_ENST00000442173.1_Missense_Mutation_p.G308D	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	309					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAAACCGGAACCAGAACCTTC	0.393													5	13					0	0	0	0	T	99566619	C	T	99566619	3	4	267	1	0	0	0	0	1	0	0	0	4730	507	18	4	5536	4	DOCK9	13	99566619	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	53984	99566619	15603259	145	47643											
MYO16	23026	broad.mit.edu	37	chr13	109475526	109475526	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaaagccgaaattgccTgggaagaaaaaatgaaagag	18	6	12	5	1	0	4	0	2	0	2	0	6	0	5	2	1	3	1	2	1	7	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:109475526T>A	ENST00000356711.2	+	9	1057	c.931T>A	c.(931-933)Tgg>Agg	p.W311R	MYO16_ENST00000357550.2_Missense_Mutation_p.W311R|MYO16_ENST00000251041.5_Missense_Mutation_p.W311R	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	311					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGAAATTGCCTGGGAAGAAAA	0.393													48	141					0	0	0	0	A	109475526	T	A	109475526	3	1	267	1	0	0	0	0	1	0	0	0	10134	1580	55	5	961	5	MYO16	13	109475526	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	9908907	109475526	5694352	146	47644											
ARHGEF7	8874	broad.mit.edu	37	chr13	111919973	111919973	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaccctgtacctcacgtaTtgtgccaatcacccttctgc	10	11	5	15	1	3	0	2	0	1	0	3	0	3	0	4	0	4	2	4	0	5	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:111919973T>C	ENST00000375741.2	+	10	1342	c.1092T>C	c.(1090-1092)taT>taC	p.Y364Y	ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000218789.5_Silent_p.Y186Y|ARHGEF7_ENST00000317133.5_Silent_p.Y343Y|ARHGEF7_ENST00000426073.2_Silent_p.Y186Y|ARHGEF7_ENST00000375723.1_Silent_p.Y186Y|ARHGEF7_ENST00000544132.1_Silent_p.L67L|ARHGEF7_ENST00000375737.5_Silent_p.Y261Y|ARHGEF7_ENST00000375736.4_Silent_p.Y186Y|ARHGEF7_ENST00000375739.2_Silent_p.Y314Y|ARHGEF7_ENST00000478679.1_Silent_p.Y108Y|ARHGEF7_ENST00000370623.3_Silent_p.Y271Y	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	364	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACCTCACGTATTGTGCCAATC	0.532													30	60					0	0	0	0	C	111919973	T	C	111919973	2	2	267	1	0	0	0	0	0	0	0	1	913	1500	52	5		5	ARHGEF7	13	111919973	Silent	SNP	T	TCGA-CV-6956-01A-21D-2012-08	2444447	111919973	3249905	147	47645											
OR11H4	390442	broad.mit.edu	37	chr14	20711094	20711094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgatttatgtcttgacCttgctgggaaatggagccat	8	15	12	6	0	1	2	0	2	1	0	1	4	1	4	2	3	2	1	2	3	2	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:20711094C>T	ENST00000315409.2	+	1	197	c.144C>T	c.(142-144)acC>acT	p.T48T		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATGTCTTGACCTTGCTGGGAA	0.443													30	60					0	0	0	0	T	20711094	C	T	20711094	2	4	267	1	0	0	0	0	0	0	0	1	10999	668	24	4		4	OR11H4	14	20711094	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08		20711094	86638446	148	47646											
TOX4	9878	broad.mit.edu	37	chr14	21955828	21955828	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgatggagcagggcgggggGctcctgagtgggggcttgac	5	8	21	7	1	0	3	0	3	0	0	1	4	1	4	1	7	1	3	1	7	0	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:21955828G>A	ENST00000405508.1	+	4	570	c.294G>A	c.(292-294)ggG>ggA	p.G98G	TOX4_ENST00000262709.3_Silent_p.G98G|TOX4_ENST00000448790.2_Silent_p.G75G|TOX4_ENST00000494242.1_3'UTR			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	98						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGGGCGGGGGGCTCCTGAGTG	0.557													35	55					0	0	0	0	A	21955828	G	A	21955828	2	1	267	1	0	0	0	0	0	0	0	1	16475	1190	42	4		4	TOX4	14	21955828	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	1244734	21955828	85393712	149	47647											
CTAGE5	4253	broad.mit.edu	37	chr14	39764138	39764138	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcacttaggccaaaatgAccttcaagatatttcaaatg	14	13	6	8	0	3	2	3	1	0	1	3	2	3	2	2	1	0	1	2	1	6	5	rs150627486	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:39764138A>G	ENST00000553728.1	+	12	2395	c.2182A>G	c.(2182-2184)Acc>Gcc	p.T728A	CTAGE5_ENST00000348007.3_Missense_Mutation_p.T193A|CTAGE5_ENST00000280083.3_Missense_Mutation_p.T193A|CTAGE5_ENST00000341502.5_Missense_Mutation_p.T193A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.T198A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.T164A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.T164A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.T164A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.T113A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.T118A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.T181A																							GGCCAAAATGACCTTCAAGAT	0.313													4	88					0	0	0	0	G	39764138	A	G	39764138	3	3	267	1	0	0	0	0	1	0	0	0	4026	275	10	5	638	5	CTAGE5	14	39764138	Missense_Mutation	SNP	A	TCGA-CV-6956-01A-21D-2012-08	17808310	39764138	67585402	150	47648											
NIN	51199	broad.mit.edu	37	chr14	51259494	51259494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagtggctcaatcaccGtcacttcaggaaactcctcc	10	9	6	16	1	4	0	4	0	0	0	7	1	7	1	4	2	1	1	4	2	2	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:51259494G>A	ENST00000245441.5	-	5	561	c.371C>T	c.(370-372)aCg>aTg	p.T124M	NIN_ENST00000382041.3_Missense_Mutation_p.T124M|NIN_ENST00000453196.1_Missense_Mutation_p.T124M|NIN_ENST00000389868.3_Missense_Mutation_p.T124M|NIN_ENST00000486200.1_5'UTR|NIN_ENST00000324330.9_Missense_Mutation_p.T124M|NIN_ENST00000382043.4_Missense_Mutation_p.T124M|NIN_ENST00000530997.2_Missense_Mutation_p.T124M	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	124					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTCAATCACCGTCACTTCAGG	0.542			T	PDGFRB	MPD								26	45					0	0	0	0	A	51259494	G	A	51259494	3	1	267	1	0	0	0	0	1	0	0	0	10487	1145	40	1	6286	1	NIN	14	51259494	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	11495356	51259494	56090046	151	47649											
PRKCH	5583	broad.mit.edu	37	chr14	61917604	61917604	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatcccacacaagttcagCatccacaactacaaagtgcc	16	6	4	15	0	1	0	1	0	0	0	3	0	3	0	3	0	5	2	3	0	5	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:61917604C>T	ENST00000332981.5	+	6	1132	c.747C>T	c.(745-747)agC>agT	p.S249S	PRKCH_ENST00000555082.1_Silent_p.S88S	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	249					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		ACAAGTTCAGCATCCACAACT	0.438													23	38					0	0	0	0	T	61917604	C	T	61917604	2	4	267	1	0	0	0	0	0	0	0	1	12593	709	25	4		4	PRKCH	14	61917604	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	10658110	61917604	45431936	152	47650											
ALKBH1	8846	broad.mit.edu	37	chr14	78161201	78161201	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgtttcacccagtgcCactggtaacctgggaggaag	9	8	13	11	0	1	0	1	0	0	0	1	2	1	2	3	4	2	3	3	4	2	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:78161201C>T	ENST00000216489.3	-	3	350	c.335G>A	c.(334-336)tGg>tAg	p.W112*	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	112					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CACCCAGTGCCACTGGTAACC	0.418													27	51					0	0	0	0	T	78161201	C	T	78161201	4	4	267	1	0	0	0	0	0	1	0	0	526	595	21	4	850	4	ALKBH1	14	78161201	Nonsense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	16243597	78161201	29188339	153	47651											
RCOR1	23186	broad.mit.edu	37	chr14	103148296	103148296	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggtctggtcacccaatcaAaatctgtcagaagcaaagtg	13	10	9	9	0	5	1	3	0	2	1	5	1	5	1	1	2	1	1	1	2	5	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:103148296A>G	ENST00000262241.6	+	3	652	c.426A>G	c.(424-426)caA>caG	p.Q142Q	RCOR1_ENST00000570597.1_Silent_p.Q139Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	139	ELM2.|Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CACCCAATCAAAATCTGTCAG	0.373													13	18					0	0	0	0	G	103148296	A	G	103148296	2	3	267	1	0	0	0	0	0	0	0	1	13264	11	1	5		5	RCOR1	14	103148296	Silent	SNP	A	TCGA-CV-6956-01A-21D-2012-08	24987095	103148296	4201244	154	47652											
NIPA2	81614	broad.mit.edu	37	chr15	23006728	23006729	+	Frame_Shift_Ins	INS	-	-	G																															ggcccttcacacaggagactINSgaaaacgcgccgattacaga																										TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:23006728_23006729insG	ENST00000337451.3	-	8	1187_1188	c.575_576insC	c.(574-576)tgtfs	p.C192fs	NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.C192fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.C192fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.C173fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.C173fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	192						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CACAGGAGACTGAAAACGCGCC	0.52													27	63	---	---	---	---					G	23006729	-	G	23006728	7	5	267	1	0	1	1	0	0	0	0	0	10493	1567	55	0	510	0	NIPA2	15	23006728	Frame_Shift_Ins	INS	-	TCGA-CV-6956-01A-21D-2012-08		23006728	79524664	155	47653											
MAGEL2	54551	broad.mit.edu	37	chr15	23890016	23890016	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggatgcgctgggcccttcCcagccactcaggatcctgga	7	7	12	15	1	1	0	1	0	0	0	3	3	3	3	4	4	2	1	4	4	0	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:23890016C>T	ENST00000532292.1	-	1	1159	c.1065G>A	c.(1063-1065)tgG>tgA	p.W355*		NM_019066.4	NP_061939.3			MAGE-like 2									p.W387L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGGCCCTTCCCAGCCACTCA	0.672													19	29					0	0	0	0	T	23890016	C	T	23890016	4	4	267	1	0	0	0	0	0	1	0	0	9258	624	22	4	879	4	MAGEL2	15	23890016	Nonsense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	883288	23890016	78641376	156	47654											
TMEM87A	25963	broad.mit.edu	37	chr15	42560198	42560198	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttttcagataccaggttaTattcaaagacaggtcacaag	14	11	8	8	0	3	2	3	0	0	2	3	2	3	2	1	2	1	2	1	2	5	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:42560198T>C	ENST00000568432.1	-	0	283				TMEM87A_ENST00000307216.6_Missense_Mutation_p.I80V|TMEM87A_ENST00000389834.4_Missense_Mutation_p.I80V|TMEM87A_ENST00000448392.1_Missense_Mutation_p.I19V			Q8NBN3	TM87A_HUMAN	transmembrane protein 87A							integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TACCAGGTTATATTCAAAGAC	0.323													25	46					0	0	0	0	C	42560198	T	C	42560198	1	2	267	1	0	0	0	0	0	0	0	0	16304	1406	49	5		5	TMEM87A	15	42560198	Translation_Start_Site	SNP	T	TCGA-CV-6956-01A-21D-2012-08	18670182	42560198	59971194	157	47655											
TRPM7	54822	broad.mit.edu	37	chr15	50906377	50906377	+	Silent	SNP	G	G	A																															aaacgtttcctagtataggtGcatctgtaggttcctcccat																										TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:50906377G>A	ENST00000313478.7	-	14	1859	c.1578C>T	c.(1576-1578)tgC>tgT	p.C526C	TRPM7_ENST00000560955.1_Silent_p.C526C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	526					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TAGTATAGGTGCATCTGTAGG	0.323													18	38					0	0	0	0	A	50906377	G	A	50906377	2	1	267	1	0	0	0	0	0	0	0	1	16686	1311	46	4		4	TRPM7	15	50906377	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	8346179	50906377	51625015	158	47656	361	2									
TRPM7	54822	broad.mit.edu	37	chr15	50906378	50906378	+	Missense_Mutation	SNP	C	C	T																															aacgtttcctagtataggtgCatctgtaggttcctcccatg																										TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:50906378C>T	ENST00000313478.7	-	14	1858	c.1577G>A	c.(1576-1578)tGc>tAc	p.C526Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.C526Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	526					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AGTATAGGTGCATCTGTAGGT	0.328													19	39					0	0	0	0	T	50906378	C	T	50906378	3	4	267	1	0	0	0	0	1	0	0	0	16686	710	25	4	4124	4	TRPM7	15	50906378	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	1	50906378	51625014	159	47657	361	2									
NARG2	79664	broad.mit.edu	37	chr15	60741642	60741642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaaggcatcagatgttttCaagtcactatcttgtatcaa	12	15	7	7	0	5	1	4	0	1	1	5	1	5	1	0	1	0	4	0	1	5	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:60741642C>G	ENST00000261520.4	-	10	1758	c.1524G>C	c.(1522-1524)ttG>ttC	p.L508F	NARG2_ENST00000439632.1_Missense_Mutation_p.L371F	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	508						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CAGATGTTTTCAAGTCACTAT	0.333													28	51					0	0	0	0	G	60741642	C	G	60741642	3	3	267	1	0	0	0	0	1	0	0	0	10239	825	29	2	1452	2	NARG2	15	60741642	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	9835264	60741642	41789750	160	47658											
C15orf39	56905	broad.mit.edu	37	chr15	75498857	75498857	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgaagaggccactggaTgttgactggactctggcgac	9	8	15	9	1	1	3	0	2	1	1	1	6	1	5	1	4	0	2	1	4	1	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:75498857T>C	ENST00000360639.2	+	2	788	c.468T>C	c.(466-468)gaT>gaC	p.D156D	C15orf39_ENST00000567617.1_Silent_p.D156D|C15orf39_ENST00000394987.4_Silent_p.D156D			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	156										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCACTGGATGTTGACTGGA	0.622													37	66					0	0	0	0	C	75498857	T	C	75498857	2	2	267	1	0	0	0	0	0	0	0	1	1805	1461	51	5		5	C15orf39	15	75498857	Silent	SNP	T	TCGA-CV-6956-01A-21D-2012-08	14757215	75498857	27032535	161	47659											
CSPG4	1464	broad.mit.edu	37	chr15	75983101	75983101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggagtcactcagcagcGtctctgctggagtctgcagc	7	9	14	11	1	4	0	2	0	2	0	5	3	4	3	0	3	5	3	0	3	0	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:75983101G>A	ENST00000308508.5	-	3	397	c.305C>T	c.(304-306)aCg>aTg	p.T102M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	102	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.T102M(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACTCAGCAGCGTCTCTGCTGG	0.582													29	66					0	0	0	0	A	75983101	G	A	75983101	3	1	267	1	0	0	0	0	1	0	0	0	3992	1145	40	1	6695	1	CSPG4	15	75983101	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	484244	75983101	26548291	162	47660											
MFGE8	4240	broad.mit.edu	37	chr15	89453067	89453074	+	Frame_Shift_Del	DEL	GTGTACGA	GTGTACGA	-																															agcccttaaggcacgtgcagGtgtacgaggggaagacatct																								rs145851768		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr15:89453067_89453074delGTGTACGA	ENST00000539437.1	-	3	266_273	c.130_137delTCGTACAC	c.(130-138)cfs	p.SYT44fs	MFGE8_ENST00000566497.1_Frame_Shift_Del_p.SYT52fs|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268150.8_Frame_Shift_Del_p.SYT52fs|MFGE8_ENST00000268151.7_Frame_Shift_Del_p.SYT52fs|MFGE8_ENST00000542878.1_Intron			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	52	EGF-like.				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)					GCACGTGCAGGTGTACGAGGGGAAGACA	0.543													26	85	---	---	---	---					-	89453074	GTGTACGA	-	89453067	7	5	267	1	0	1	0	1	0	0	0	0	9589	1261	44	0	1030	0	MFGE8	15	89453067	Frame_Shift_Del	DEL	GTGTACGA	TCGA-CV-6956-01A-21D-2012-08	13469966	89453067	13078325	163	47661											
XYLT1	64131	broad.mit.edu	37	chr16	17292261	17292261	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagcacttgccgatgcaggTaattagagcgcttttcccag	9	10	12	10	2	0	1	0	0	0	1	1	3	1	2	2	2	4	4	2	2	2	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr16:17292261T>A	ENST00000261381.6	-	5	1181	c.1097A>T	c.(1096-1098)tAc>tTc	p.Y366F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	366					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGATGCAGGTAATTAGAGCG	0.587													10	17					0	0	0	0	A	17292261	T	A	17292261	3	1	267	1	0	0	0	0	1	0	0	0	17559	1638	57	5	1814	5	XYLT1	16	17292261	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08		17292261	73062492	164	47662											
ACSM3	6296	broad.mit.edu	37	chr16	20797459	20797459	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggctcaatgggaaaaccTtctcctgctttcgatgttaa	9	13	8	11	1	2	0	1	0	1	0	4	2	2	1	3	2	2	3	3	2	4	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr16:20797459T>G	ENST00000289416.5	+	9	1678	c.1203T>G	c.(1201-1203)ccT>ccG	p.P401P	ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000440284.2_Silent_p.P401P|ACSM3_ENST00000450120.2_Silent_p.P393P|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	401					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGGGAAAACCTTCTCCTGCTT	0.388													15	23					0	0	0	0	G	20797459	T	G	20797459	2	3	267	1	0	0	0	0	0	0	0	1	185	1596	56	5		5	ACSM3	16	20797459	Silent	SNP	T	TCGA-CV-6956-01A-21D-2012-08	3505198	20797459	69557294	165	47663											
EARS2	124454	broad.mit.edu	37	chr16	23563530	23563530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcacaacgcgagtctgatCtgtgtcctctagcctcagga	9	9	11	12	2	4	1	1	1	3	0	5	3	5	2	2	2	2	1	2	2	2	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr16:23563530C>G	ENST00000449606.1	-	2	266	c.235G>C	c.(235-237)Gat>Cat	p.D79H	EARS2_ENST00000563459.1_Missense_Mutation_p.D79H|EARS2_ENST00000564501.1_Missense_Mutation_p.D79H|EARS2_ENST00000563232.1_Missense_Mutation_p.D79H	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	79					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CGAGTCTGATCTGTGTCCTCT	0.547													35	71					0	0	0	0	G	23563530	C	G	23563530	3	3	267	1	0	0	0	0	1	0	0	0	4914	913	32	2	1368	2	EARS2	16	23563530	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	2766071	23563530	66791223	166	47664											
MAZ	4150	broad.mit.edu	37	chr16	29820025	29820025	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaccacatgaaggtgcacagCcagggtcctcaccatgtctg	10	7	11	13	0	2	1	1	1	1	0	3	2	3	1	4	2	2	1	4	2	1	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr16:29820025C>G	ENST00000219782.6	+	4	1348	c.1242C>G	c.(1240-1242)agC>agG	p.S414R	MAZ_ENST00000568544.1_Missense_Mutation_p.S15R|MAZ_ENST00000568282.1_Missense_Mutation_p.S15R|MAZ_ENST00000322945.6_Missense_Mutation_p.S414R|MAZ_ENST00000569978.1_Missense_Mutation_p.S15R|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000563402.1_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000562337.1_Missense_Mutation_p.S109R|MAZ_ENST00000545521.1_Missense_Mutation_p.S391R	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	414					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGGTGCACAGCCAGGGTCCTC	0.612													12	18					0	0	0	0	G	29820025	C	G	29820025	3	3	267	1	0	0	0	0	1	0	0	0	9409	738	26	4	1256	4	MAZ	16	29820025	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	6256495	29820025	60534728	167	47665											
FBXL19	54620	broad.mit.edu	37	chr16	30958233	30958233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcacggcccccacgtccCcactccgcgagaccctggtg	5	6	9	21	4	1	1	1	0	0	1	4	2	4	1	7	2	0	0	7	2	0	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr16:30958233C>G	ENST00000338343.4	+	10	2197	c.1810C>G	c.(1810-1812)Cca>Gca	p.P604A	FBXL19_ENST00000380310.2_Missense_Mutation_p.P624A|FBXL19_ENST00000565690.1_Missense_Mutation_p.P488A|FBXL19_ENST00000471231.2_Missense_Mutation_p.P312A|FBXL19_ENST00000562319.1_Missense_Mutation_p.P604A			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	624							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CCCCACGTCCCCACTCCGCGA	0.682													5	14					0	0	0	0	G	30958233	C	G	30958233	3	3	267	1	0	0	0	0	1	0	0	0	5760	623	22	4	1908	4	FBXL19	16	30958233	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	1138208	30958233	59396520	168	47666											
ACAP1	9744	broad.mit.edu	37	chr17	7251469	7251469	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgtgagctgggaaatgtCatcatcaaccagatctatga	13	11	10	7	0	4	3	3	2	1	1	4	4	4	4	1	1	2	1	1	1	3	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:7251469C>G	ENST00000158762.3	+	16	1643	c.1437C>G	c.(1435-1437)gtC>gtG	p.V479V		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	479	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGGGAAATGTCATCATCAACC	0.617													7	24					0	0	0	0	G	7251469	C	G	7251469	2	3	267	1	0	0	0	0	0	0	0	1	118	813	29	2		2	ACAP1	17	7251469	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08		7251469	73943741	169	47667											
TP53	7157	broad.mit.edu	37	chr17	7579356	7579359	+	Frame_Shift_Del	DEL	GACG	GACG	-																															cccagaatgcaagaagcccaGacggaaaccgtagctgccct																								rs11540654		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:7579356_7579359delGACG	ENST00000420246.2	-	4	460_463	c.328_331delCGTC	c.(328-333)tgfs	p.RL110fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.RL110fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.RL110fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RL110fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.RL110fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.RL110fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(36)|p.R110fs*13(11)|p.R110P(9)|p.0?(8)|p.R110C(7)|p.G59fs*23(3)|p.R110H(2)|p.F109_R110delFR(2)|p.Y107fs*38(1)|p.R110fs*18(1)|p.R110fs*39(1)|p.L111fs*10(1)|p.V73fs*9(1)|p.Y107fs*44(1)|p.L111M(1)|p.S33fs*23(1)|p.R110S(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.Y103_L111>L(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAGAAGCCCAGACGGAAACCGTAG	0.613		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			47	34	---	---	---	---					-	7579359	GACG	-	7579356	7	5	267	1	0	1	0	1	0	0	0	0	16476	933	33	0	971	0	TP53	17	7579356	Frame_Shift_Del	DEL	GACG	TCGA-CV-6956-01A-21D-2012-08	327887	7579356	73615854	170	47668											
CNTROB	116840	broad.mit.edu	37	chr17	7839728	7839728	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagacccgagtgttagaGctacagcaacaattagccgt	12	8	10	11	2	0	2	0	0	0	2	0	3	0	2	2	0	6	4	2	0	5	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:7839728G>C	ENST00000380262.3	+	5	1564	c.639G>C	c.(637-639)gaG>gaC	p.E213D	CNTROB_ENST00000380255.3_Missense_Mutation_p.E213D|CNTROB_ENST00000563694.1_Missense_Mutation_p.E213D|CNTROB_ENST00000565740.1_Missense_Mutation_p.E213D	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	213					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GAGTGTTAGAGCTACAGCAAC	0.527													38	98					0	0	0	0	C	7839728	G	C	7839728	3	2	267	1	0	0	0	0	1	0	0	0	3681	962	34	4	657	4	CNTROB	17	7839728	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	260372	7839728	73355482	171	47669											
RASD1	51655	broad.mit.edu	37	chr17	17399294	17399294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggtagacctcgccgcGgatggagtagaacttgcggt	8	8	16	9	4	0	2	0	0	0	2	1	5	0	4	2	4	3	3	2	4	3	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:17399294G>T	ENST00000225688.3	-	1	413	c.202C>A	c.(202-204)Cgc>Agc	p.R68S	RASD1_ENST00000579152.1_Missense_Mutation_p.R68S	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	68					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						ACCTCGCCGCGGATGGAGTAG	0.672													15	72					3.41278e-10	3.86972e-10	1	0	T	17399294	G	T	17399294	3	4	267	1	0	0	0	0	1	0	0	0	13148	1116	39	3	651	3	RASD1	17	17399294	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	9559566	17399294	63795916	172	47670											
PRPSAP2	5636	broad.mit.edu	37	chr17	18833957	18833957	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagaggcgatccgtcggatCcacaatggggagtccatgtc	9	8	13	11	3	1	1	1	0	0	1	6	4	4	3	3	4	0	0	3	4	1	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:18833957C>T	ENST00000268835.2	+	12	1339	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	PRPSAP2_ENST00000419071.2_Silent_p.I312I|PRPSAP2_ENST00000536323.1_Silent_p.I266I|PRPSAP2_ENST00000542013.1_Silent_p.I303I	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	352					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TCCGTCGGATCCACAATGGGG	0.458													12	23					0	0	0	0	T	18833957	C	T	18833957	2	4	267	1	0	0	0	0	0	0	0	1	12662	845	30	2		2	PRPSAP2	17	18833957	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	1434663	18833957	62361253	173	47671											
SEZ6	124925	broad.mit.edu	37	chr17	27283247	27283247	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggggcgggggcgggggCggggcagctgcagggagctt	4	5	25	7	3	0	0	0	0	0	0	0	1	0	1	0	9	3	5	0	9	1	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:27283247C>G	ENST00000317338.12	-	16	3310	c.2882G>C	c.(2881-2883)cGc>cCc	p.R961P	SEZ6_ENST00000335960.6_Silent_p.P493P|SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	961						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ggggcgggggcggggCAGCTG	0.582													3	13					0	0	0	0	G	27283247	C	G	27283247	3	3	267	1	0	0	0	0	1	0	0	0	14229	768	27	3	123	3	SEZ6	17	27283247	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	8449290	27283247	53911963	174	47672											
GGNBP2	79893	broad.mit.edu	37	chr17	34943490	34943490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacctcaggaaataccatgCacacagtgtttcaccgtgac	13	8	8	12	1	2	2	2	1	0	1	2	3	2	3	3	1	2	2	3	1	2	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:34943490C>T	ENST00000304718.4	+	13	2021	c.1705C>T	c.(1705-1707)Cac>Tac	p.H569Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	569					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AAATACCATGCACACAGTGTT	0.463													14	64					0	0	0	0	T	34943490	C	T	34943490	3	4	267	1	0	0	0	0	1	0	0	0	6410	710	25	4	1751	4	GGNBP2	17	34943490	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	7660243	34943490	46251720	175	47673											
KRT25	147183	broad.mit.edu	37	chr17	38910653	38910653	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacttgagtctgaaatcaTcagctgtaagcctggcatta	11	13	8	9	0	3	2	2	2	1	0	3	2	3	2	1	1	3	3	1	1	4	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:38910653T>G	ENST00000312150.4	-	2	557	c.497A>C	c.(496-498)gAt>gCt	p.D166A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	166	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCTGAAATCATCAGCTGTAAG	0.383													29	67					0	0	0	0	G	38910653	T	G	38910653	3	3	267	1	0	0	0	0	1	0	0	0	8514	1435	50	5	883	5	KRT25	17	38910653	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	3967163	38910653	42284557	176	47674											
PLEKHH3	79990	broad.mit.edu	37	chr17	40823110	40823110	+	Silent	SNP	C	C	G																															agcgcgaatgcgttgcggctCcgggccaagcccagccgccc																										TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:40823110C>G	ENST00000293349.6	-	9	1753	c.1323G>C	c.(1321-1323)cgG>cgC	p.R441R	PLEKHH3_ENST00000591022.1_Silent_p.R441R|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Silent_p.R441R			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	441	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CGTTGCGGCTCCGGGCCAAGC	0.667													33	56					0	0	0	0	G	40823110	C	G	40823110	2	3	267	1	0	0	0	0	0	0	0	1	12150	842	30	2		2	PLEKHH3	17	40823110	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	1912457	40823110	40372100	177	47675	362	2									
PLEKHH3	79990	broad.mit.edu	37	chr17	40823111	40823111	+	Missense_Mutation	SNP	C	C	T																															gcgcgaatgcgttgcggctcCgggccaagcccagccgcccc																										TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:40823111C>T	ENST00000293349.6	-	9	1752	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	PLEKHH3_ENST00000591022.1_Missense_Mutation_p.R441Q|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.R441Q			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	441	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTTGCGGCTCCGGGCCAAGCC	0.667													32	55					0	0	0	0	T	40823111	C	T	40823111	3	4	267	1	0	0	0	0	1	0	0	0	12150	652	23	1	1079	1	PLEKHH3	17	40823111	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	1	40823111	40372099	178	47676	362	2									
MARCH10	162333	broad.mit.edu	37	chr17	60821758	60821758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctcccctgggaaccggcaCctttgcaggccactgctgtt	5	10	11	15	1	0	0	0	0	0	0	1	1	1	1	5	3	4	5	5	3	1	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:60821758C>A	ENST00000544856.2	-	6	889	c.511G>T	c.(511-513)Gtg>Ttg	p.V171L	MARCH10_ENST00000456609.2_Missense_Mutation_p.V172L|MARCH10_ENST00000583600.1_Missense_Mutation_p.V210L|MARCH10_ENST00000311269.5_Missense_Mutation_p.V172L			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	172							ligase activity|zinc ion binding	p.V172L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGAACCGGCACCTTTGCAGGC	0.557													52	96					3.89483e-19	4.77601e-19	1	0	A	60821758	C	A	60821758	3	1	267	1	0	0	0	0	1	0	0	0	9368	507	18	4	1940	4	MARCH10	17	60821758	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	19998647	60821758	20373452	179	47677											
LIMD2	80774	broad.mit.edu	37	chr17	61776623	61776623	+	Frame_Shift_Del	DEL	G	G	-																															agccgggcacttacatgagaGggggtggcctgggcggctcc																										TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:61776623delG	ENST00000259006.3	-	2	194	c.36delC	c.(34-36)ccfs	p.P12fs	LIMD2_ENST00000578402.1_Frame_Shift_Del_p.P12fs|LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000578993.1_Frame_Shift_Del_p.P12fs|LIMD2_ENST00000578061.1_Frame_Shift_Del_p.P12fs	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	12							zinc ion binding			kidney(1)|lung(2)	3						TTACATGAGAGGGGGTGGCCT	0.682													12	29	---	---	---	---					-	61776623	G	-	61776623	7	5	267	1	0	1	0	1	0	0	0	0	8853	987	35	0	363	0	LIMD2	17	61776623	Frame_Shift_Del	DEL	G	TCGA-CV-6956-01A-21D-2012-08	954865	61776623	19418587	180	47678											
TEX2	55852	broad.mit.edu	37	chr17	62290905	62290905	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgactcctgccgggaagTgtccgtggacagagacttga	9	8	13	11	3	0	2	0	1	0	1	3	6	3	4	4	2	1	0	4	2	1	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:62290905T>A	ENST00000258991.3	-	2	757	c.673A>T	c.(673-675)Act>Tct	p.T225S	TEX2_ENST00000584379.1_Missense_Mutation_p.T225S|TEX2_ENST00000583097.1_Missense_Mutation_p.T225S			Q8IWB9	TEX2_HUMAN	testis expressed 2	225					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TGCCGGGAAGTGTCCGTGGAC	0.532													41	58					0	0	0	0	A	62290905	T	A	62290905	3	1	267	1	0	0	0	0	1	0	0	0	15875	1696	59	5	2775	5	TEX2	17	62290905	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	514282	62290905	18904305	181	47679											
SLC16A6	9120	broad.mit.edu	37	chr17	66267356	66267356	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactaatgcccagaggaatGatgtacaaggaaggtgcaaa	17	6	12	6	0	0	3	0	1	0	2	0	5	0	5	1	3	3	2	1	3	6	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:66267356G>A	ENST00000327268.4	-	6	1109	c.945C>T	c.(943-945)atC>atT	p.I315I	SLC16A6_ENST00000580666.1_Silent_p.I315I|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	315						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CCAGAGGAATGATGTACAAGG	0.423													12	24					0	0	0	0	A	66267356	G	A	66267356	2	1	267	1	0	0	0	0	0	0	0	1	14500	1280	45	2		2	SLC16A6	17	66267356	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	3976451	66267356	14927854	182	47680											
PYCR1	5831	broad.mit.edu	37	chr17	79892538	79892538	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacactgaccaggagggcCtgggccccgaggcggactgc	9	3	15	14	2	0	1	0	1	0	0	0	4	0	3	4	5	2	0	4	5	1	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:79892538C>T	ENST00000337943.5	-	5	1066	c.624G>A	c.(622-624)caG>caA	p.Q208Q	PYCR1_ENST00000329875.8_Silent_p.Q208Q|PYCR1_ENST00000403172.4_Intron|PYCR1_ENST00000577756.1_Silent_p.Q208Q|PYCR1_ENST00000402252.2_Silent_p.Q235Q	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	208					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CCAGGAGGGCCTGGGCCCCGA	0.662													3	5					0	0	0	0	T	79892538	C	T	79892538	2	4	267	1	0	0	0	0	0	0	0	1	12937	680	24	4		4	PYCR1	17	79892538	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	13625182	79892538	1302672	183	47681											
MC5R	4161	broad.mit.edu	37	chr18	13826439	13826439	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgcggctctgcccggggcCagctctgcgcggcagaggac	5	5	16	15	5	2	1	0	0	2	1	3	2	2	2	2	5	3	3	2	5	0	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr18:13826439C>A	ENST00000324750.3	+	1	897	c.675C>A	c.(673-675)gcC>gcA	p.A225A		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	225				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGCCCGGGGCCAGCTCTGCGC	0.622													87	179					3.56499e-28	4.43171e-28	1	0	A	13826439	C	A	13826439	2	1	267	1	0	0	0	0	0	0	0	1	9436	581	21	4		4	MC5R	18	13826439	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08		13826439	64250809	184	47682											
ZNF521	25925	broad.mit.edu	37	chr18	22807174	22807174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcatcttccagtcctccatCctggaaccggactgagagcc	8	10	8	15	1	2	1	1	1	1	1	6	4	6	3	6	2	2	0	6	2	1	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr18:22807174C>T	ENST00000361524.3	-	4	856	c.708G>A	c.(706-708)agG>agA	p.R236R	ZNF521_ENST00000538137.2_Silent_p.R236R|ZNF521_ENST00000584787.1_Silent_p.R16R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	236					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTCCTCCATCCTGGAACCGG	0.522			T	PAX5	ALL								13	67					0	0	0	0	T	22807174	C	T	22807174	2	4	267	1	0	0	0	0	0	0	0	1	18060	854	30	2		2	ZNF521	18	22807174	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	8980735	22807174	55270074	185	47683											
NARS	4677	broad.mit.edu	37	chr18	55283091	55283091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcttcatttgttccctatgCcacatctttttaatgttctt	6	21	3	11	0	4	0	1	0	3	0	5	0	5	0	2	0	1	2	2	0	2	9			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr18:55283091C>A	ENST00000256854.5	-	3	665	c.210G>T	c.(208-210)tgG>tgT	p.W70C	NARS_ENST00000423481.2_5'UTR	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	70					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	GTTCCCTATGCCACATCTTTT	0.388													22	55					1.87028e-06	2.04374e-06	1	0	A	55283091	C	A	55283091	3	1	267	1	0	0	0	0	1	0	0	0	10240	740	26	4	1484	4	NARS	18	55283091	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	32475917	55283091	22794157	186	47684											
LRG1	116844	broad.mit.edu	37	chr19	4538051	4538051	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcttgtctttttgggcCtgaagccaacgatagaggtc	10	12	10	9	1	2	2	0	1	2	1	3	3	2	2	2	2	3	0	2	2	4	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:4538051C>T	ENST00000306390.6	-	2	1405	c.945G>A	c.(943-945)caG>caA	p.Q315Q	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	315	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTTTGGGCCTGAAGCCAAC	0.592													40	35					0	0	0	0	T	4538051	C	T	4538051	2	4	267	1	0	0	0	0	0	0	0	1	9006	680	24	4		4	LRG1	19	4538051	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08		4538051	54590932	187	47685											
MUC16	94025	broad.mit.edu	37	chr19	9088493	9088493	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttaaatgatagacatcatCagaaaatgtgtcaacgaatt	17	12	7	5	1	3	3	3	1	0	2	3	4	3	3	0	0	1	1	0	0	7	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:9088493C>G	ENST00000397910.4	-	1	3525	c.3322G>C	c.(3322-3324)Gat>Cat	p.D1108H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1108	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						TAGACATCATCAGAAAATGTG	0.443													18	36					0	0	0	0	G	9088493	C	G	9088493	3	3	267	1	0	0	0	0	1	0	0	0	10043	826	29	2	40537	2	MUC16	19	9088493	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	4550442	9088493	50040490	188	47686											
PPAN	56342	broad.mit.edu	37	chr19	10225320	10225320	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagggacagctggaaccCagaggacgccaagagcactg	13	3	13	12	1	0	2	0	0	0	2	0	5	0	5	2	3	4	2	2	3	3	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:10225320C>G	ENST00000556468.1	+	13	2318	c.2291C>G	c.(2290-2292)cCa>cGa	p.P764R	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.P764R|P2RY11_ENST00000321826.4_Missense_Mutation_p.P344R					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			AGCTGGAACCCAGAGGACGCC	0.657													14	50					0	0	0	0	G	10225320	C	G	10225320	3	3	267	1	0	0	0	0	1	0	0	0	12359	594	21	4		4	PPAN	19	10225320	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	1136827	10225320	48903663	189	47687											
ZNF763	284390	broad.mit.edu	37	chr19	12088200	12088200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagggaaaaagtggaaaGaccagaacattgaatatgag	18	9	11	3	0	0	4	0	2	0	2	0	6	0	6	1	2	1	0	1	2	7	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:12088200G>T	ENST00000343949.5	+	3	309	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	ZNF763_ENST00000358987.3_Missense_Mutation_p.D49Y|ZNF763_ENST00000592625.1_Intron|ZNF763_ENST00000538752.1_Missense_Mutation_p.D69Y|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000590798.1_Missense_Mutation_p.D69Y|ZNF763_ENST00000591944.1_Intron	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						AAAGTGGAAAGACCAGAACAT	0.333													18	32					2.35188e-11	2.68928e-11	1	0	T	12088200	G	T	12088200	3	4	267	1	0	0	0	0	1	0	0	0	18231	942	33	2	164	2	ZNF763	19	12088200	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	1862880	12088200	47040783	190	47688											
SYDE1	85360	broad.mit.edu	37	chr19	15222125	15222125	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctcttcccacccccaggTagtgggactgtaccgtcttt	5	13	8	15	1	3	0	0	0	3	0	5	1	4	1	4	2	1	2	4	2	2	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:15222125T>C	ENST00000600252.1	+	2	1905	c.261_splice	c.e2-1	p.V88_splice	SYDE1_ENST00000342784.2_Splice_Site_p.V431_splice|SYDE1_ENST00000600440.1_Splice_Site_p.V364_splice			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	431	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CACCCCCAGGTAGTGGGACTG	0.587													33	22					0	0	0	0	C	15222125	T	C	15222125	5	2	267	1	0	0	0	0	0	0	1	0	15526	1652	57	5	1310	5	SYDE1	19	15222125	Splice_Site	SNP	T	TCGA-CV-6956-01A-21D-2012-08	3133925	15222125	43906858	191	47689											
ATP13A1	57130	broad.mit.edu	37	chr19	19766741	19766741	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgcacccgctgtcaacCgctggggagagaagcagagt	10	4	14	13	3	1	2	1	0	0	2	1	4	1	3	3	2	2	4	3	2	2	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:19766741C>G	ENST00000357324.6	-	9	1241	c.1213_splice	c.e9-1	p.P405_splice	ATP13A1_ENST00000291503.5_Splice_Site_p.P287_splice	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	405					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.P405P(1)|p.?(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGCTGTCAACCGCTGGGGAGA	0.652													4	16					0	0	0	0	G	19766741	C	G	19766741	5	3	267	1	0	0	0	0	0	0	1	0	1127	666	23	3	2471	3	ATP13A1	19	19766741	Splice_Site	SNP	C	TCGA-CV-6956-01A-21D-2012-08	4544616	19766741	39362242	192	47690											
APLP1	333	broad.mit.edu	37	chr19	36368688	36368688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcccctgggggcagcagcGaggacaagggtgggctgcag	7	4	19	11	1	0	0	0	0	0	0	0	2	0	1	2	5	4	4	2	5	1	0	rs142258705		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:36368688G>A	ENST00000221891.4	+	12	1705	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	APLP1_ENST00000537454.2_Missense_Mutation_p.E466K|APLP1_ENST00000586861.1_Missense_Mutation_p.E499K|APLP1_ENST00000589298.2_3'UTR	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	505					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGCAGCAGCGAGGACAAGGG	0.582													17	44					0	0	0	0	A	36368688	G	A	36368688	3	1	267	1	0	0	0	0	1	0	0	0	780	1059	37	1	1559	1	APLP1	19	36368688	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	16601947	36368688	22760295	193	47691											
ZNF571	51276	broad.mit.edu	37	chr19	38057174	38057174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggagataactttttggtCacacaactggattccaagtc	11	13	8	9	0	2	1	1	0	1	1	4	3	3	2	1	3	2	0	1	3	3	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:38057174C>T	ENST00000328550.2	-	4	255	c.156G>A	c.(154-156)gtG>gtA	p.V52V	ZNF571_ENST00000358744.3_Silent_p.V52V|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000451802.2_Silent_p.V52V|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000593133.1_Silent_p.V52V|ZNF571-AS1_ENST00000590838.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTTTTTGGTCACACAACTGG	0.338													16	51					0	0	0	0	T	38057174	C	T	38057174	2	4	267	1	0	0	0	0	0	0	0	1	18098	813	29	2		2	ZNF571	19	38057174	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08	1688486	38057174	21071809	194	47692											
PSG11	5680	broad.mit.edu	37	chr19	43529018	43529018	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatataattatttgaccGtctactacatatgatgtaat	14	16	4	7	1	1	2	0	2	1	0	1	2	1	2	2	0	2	1	2	0	8	9	rs138426313		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:43529018G>A	ENST00000401740.1	-	2	358	c.255C>T	c.(253-255)gaC>gaT	p.D85D	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Silent_p.D85D			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	85	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTATTTGACCGTCTACTACAT	0.443													56	179					0	0	0	0	A	43529018	G	A	43529018	2	1	267	1	0	0	0	0	0	0	0	1	12733	1136	40	1		1	PSG11	19	43529018	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	5471844	43529018	15599965	195	47693											
TEX101	83639	broad.mit.edu	37	chr19	43920656	43920656	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actactgtgaggattccttcTgtaatgacaaagacagcctg	12	11	9	9	0	1	3	0	2	1	1	2	4	2	4	2	1	2	1	2	1	3	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:43920656T>C	ENST00000602198.1	+	6	836	c.394T>C	c.(394-396)Tgt>Cgt	p.C132R	TEX101_ENST00000598265.1_Missense_Mutation_p.C114R|TEX101_ENST00000253435.7_Missense_Mutation_p.C132R|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	114						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GGATTCCTTCTGTAATGACAA	0.507													98	142					0	0	0	0	C	43920656	T	C	43920656	3	2	267	1	0	0	0	0	1	0	0	0	15867	1580	55	5	408	5	TEX101	19	43920656	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	391638	43920656	15208327	196	47694											
FOSB	2354	broad.mit.edu	37	chr19	45971882	45971882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggagactacgactccggctCccggtgcagctcctcaccct	6	7	10	18	4	1	1	1	0	0	1	4	3	4	1	4	3	3	3	4	3	1	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:45971882C>T	ENST00000353609.3	+	1	630	c.38C>T	c.(37-39)tCc>tTc	p.S13F	FOSB_ENST00000590335.1_Missense_Mutation_p.S13F|FOSB_ENST00000591858.1_Missense_Mutation_p.S13F|FOSB_ENST00000592436.1_Missense_Mutation_p.S13F|FOSB_ENST00000443841.2_Missense_Mutation_p.S13F|FOSB_ENST00000585836.1_Missense_Mutation_p.S13F|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000417353.2_Missense_Mutation_p.S13F	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	13					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GACTCCGGCTCCCGGTGCAGC	0.632													56	66					0	0	0	0	T	45971882	C	T	45971882	3	4	267	1	0	0	0	0	1	0	0	0	6031	855	30	2	40	2	FOSB	19	45971882	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	2051226	45971882	13157101	197	47695											
ZNF347	84671	broad.mit.edu	37	chr19	53644866	53644866	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagtgaagaccttgccacaTtcattacatttgtaaggttt	11	15	8	7	0	1	3	1	2	0	1	1	3	1	3	2	1	2	2	2	1	3	6			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:53644866T>A	ENST00000452676.2	-	5	1644	c.1218A>T	c.(1216-1218)gaA>gaT	p.E406D	ZNF347_ENST00000334197.7_Missense_Mutation_p.E405D|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.E406D	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCTTGCCACATTCATTACATT	0.423													42	60					0	0	0	0	A	53644866	T	A	53644866	3	1	267	1	0	0	0	0	1	0	0	0	17956	1490	52	5	1308	5	ZNF347	19	53644866	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	7672984	53644866	5484117	198	47696											
LENG9	94059	broad.mit.edu	37	chr19	54973750	54973750	+	Frame_Shift_Del	DEL	T	T	-																															ggggccacgtggaccaggtaTtcctgggccttggtcacttc																										TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:54973750delT	ENST00000333834.4	-	1	1144	c.1026delA	c.(1024-1026)gafs	p.E342fs		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	342					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGACCAGGTATTCCTGGGCCT	0.632													40	60	---	---	---	---					-	54973750	T	-	54973750	7	5	267	1	0	1	0	1	0	0	0	0	8778	1490	52	0	483	0	LENG9	19	54973750	Frame_Shift_Del	DEL	T	TCGA-CV-6956-01A-21D-2012-08	1328884	54973750	4155233	199	47697											
NLRP11	204801	broad.mit.edu	37	chr19	56303779	56303779	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtcttagagttgggctgaAcagaagcactcttccaaggg	10	11	12	8	0	2	3	0	1	2	2	3	3	3	3	1	2	2	3	1	2	4	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:56303779A>G	ENST00000443188.1	-	9	3111	c.2401T>C	c.(2401-2403)Ttc>Ctc	p.F801L	NLRP11_ENST00000589824.2_Missense_Mutation_p.F747L|NLRP11_ENST00000589093.1_Missense_Mutation_p.F801L|NLRP11_ENST00000360133.3_Missense_Mutation_p.F747L|NLRP11_ENST00000592953.1_Missense_Mutation_p.F702L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	801							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)		GTTGGGCTGAACAGAAGCACT	0.473													9	78					0	0	0	0	G	56303779	A	G	56303779	3	3	267	1	0	0	0	0	1	0	0	0	10543	43	2	5	716	5	NLRP11	19	56303779	Missense_Mutation	SNP	A	TCGA-CV-6956-01A-21D-2012-08	1330029	56303779	2825204	200	47698											
ZNF71	58491	broad.mit.edu	37	chr19	57133864	57133864	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcgtgcaccagatcgtGcacaccggggagaagcccta	10	6	11	14	3	1	2	1	0	0	2	3	3	1	2	3	2	3	2	3	2	2	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:57133864G>T	ENST00000328070.6	+	3	1443	c.1209G>T	c.(1207-1209)gtG>gtT	p.V403V		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	403						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACCAGATCGTGCACACCGGGG	0.647													15	47					8.60227e-14	1.00483e-13	1	0	T	57133864	G	T	57133864	2	4	267	1	0	0	0	0	0	0	0	1	18209	1306	46	4		4	ZNF71	19	57133864	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	830085	57133864	1995119	201	47699											
ZNF134	7693	broad.mit.edu	37	chr19	58132578	58132578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgactatattgcacaccagaGggttcacactggtgaaaggc	12	9	11	9	0	1	3	1	2	0	1	1	3	1	3	1	3	1	2	1	3	3	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:58132578G>T	ENST00000396161.5	+	3	1401	c.1091G>T	c.(1090-1092)aGg>aTg	p.R364M		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	364						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCACACCAGAGGGTTCACACT	0.438													39	36					2.51541e-25	3.11268e-25	1	0	T	58132578	G	T	58132578	3	4	267	1	0	0	0	0	1	0	0	0	17819	1000	35	4	1097	4	ZNF134	19	58132578	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	998714	58132578	996405	202	47700											
VPS16	64601	broad.mit.edu	37	chr20	2845938	2845938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtgcagagcagctggcaCgtgacttccgcatccctgac	8	7	12	14	3	0	3	0	2	0	1	2	3	2	3	2	1	4	5	2	1	0	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr20:2845938C>T	ENST00000380445.3	+	21	2221	c.2149C>T	c.(2149-2151)Cgt>Tgt	p.R717C	VPS16_ENST00000380443.3_Missense_Mutation_p.R403C|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.R573C	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	717					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GCAGCTGGCACGTGACTTCCG	0.592													23	60					0	0	0	0	T	2845938	C	T	2845938	3	4	267	1	0	0	0	0	1	0	0	0	17289	536	19	1	2231	1	VPS16	20	2845938	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08		2845938	60179582	203	47701											
RIN2	54453	broad.mit.edu	37	chr20	19981537	19981537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcaagaacgatccttatgGcatcattttccagaacgggg	12	10	9	10	2	2	2	2	0	0	2	4	3	4	2	2	3	2	1	2	3	4	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr20:19981537G>T	ENST00000255006.6	+	12	2941	c.2792G>T	c.(2791-2793)gGc>gTc	p.G931V	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.G449V	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	882					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GATCCTTATGGCATCATTTTC	0.532													22	63					5.45024e-15	6.44985e-15	1	0	T	19981537	G	T	19981537	3	4	267	1	0	0	0	0	1	0	0	0	13457	1203	42	4	2687	4	RIN2	20	19981537	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	17135599	19981537	43043983	204	47702											
CST3	1471	broad.mit.edu	37	chr20	23614554	23614554	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagcccggtacagaccccTaggcgtcctgacaggtggat	8	6	13	14	2	0	2	0	1	0	1	1	3	1	3	5	4	2	1	5	4	2	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr20:23614554T>A	ENST00000398411.1	-	3	522	c.440A>T	c.(439-441)tAg>tTg	p.*147L	CST3_ENST00000376925.3_Nonstop_Mutation_p.*147L|CST3_ENST00000398409.1_Nonstop_Mutation_p.*147L			P01034	CYTC_HUMAN	cystatin C	0					defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TACAGACCCCTAGGCGTCCTG	0.577													31	97					0	0	0	0	A	23614554	T	A	23614554	4	1	267	1	0	0	0	0	0	0	0	0	4005	1535	53	5	4	5	CST3	20	23614554	Nonstop_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	3633017	23614554	39410966	205	47703											
CTSA	5476	broad.mit.edu	37	chr20	44519983	44519983	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatgacttccagtccccggGcgcctcctggagagcaagga	9	6	12	14	2	0	2	0	1	0	1	3	4	3	3	5	3	1	1	5	3	1	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr20:44519983G>C	ENST00000372484.3	+	1	301	c.19G>C	c.(19-21)Gcg>Ccg	p.A7P	CTSA_ENST00000191018.5_5'UTR|CTSA_ENST00000354880.5_Missense_Mutation_p.A7P	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	0					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CAGTCCCCGGGCGCCTCCTGG	0.692													4	2					0	0	0	0	C	44519983	G	C	44519983	3	2	267	1	0	0	0	0	1	0	0	0	4061	1203	42	4	21	4	CTSA	20	44519983	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	20905429	44519983	18505537	206	47704											
BAGE2	85319	broad.mit.edu	37	chr21	11058238	11058238	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaaggtgtcggctcctGcagcacaaggataatgatac	12	8	11	10	1	0	2	0	2	0	0	2	3	1	3	2	3	3	3	2	3	4	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr21:11058238G>A	ENST00000470054.1	-	0	409									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCGGCTCCTGCAGCACAAGG	0.433													14	83					0	0	0	0	A	11058238	G	A	11058238	1	1	267	0	1	0	0	0	0	0	0	0	1296	1328	46	4		4	BAGE2	21	11058238	RNA	SNP	G	TCGA-CV-6956-01A-21D-2012-08		11058238	37071657	207	47705											
NRIP1	8204	broad.mit.edu	37	chr21	16339770	16339770	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggcaggactagcccttttTtccaccatgcttgcaacagc	8	11	9	13	0	0	0	0	0	0	0	1	1	1	1	3	2	5	3	3	2	2	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr21:16339770T>A	ENST00000400202.1	-	3	1456	c.744A>T	c.(742-744)gaA>gaT	p.E248D	NRIP1_ENST00000318948.4_Missense_Mutation_p.E248D|NRIP1_ENST00000400199.1_Missense_Mutation_p.E248D			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	248	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TAGCCCTTTTTTCCACCATGC	0.473													19	47					0	0	0	0	A	16339770	T	A	16339770	3	1	267	1	0	0	0	0	1	0	0	0	10723	1838	64	5	2736	5	NRIP1	21	16339770	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	5281532	16339770	31790125	208	47706											
TRAPPC10	7109	broad.mit.edu	37	chr21	45479008	45479008	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgcctttgttttcgagAtgctgcagcagttcgaggac	7	13	12	9	2	0	1	0	0	0	1	2	4	0	2	1	1	5	6	1	1	0	5			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr21:45479008A>T	ENST00000291574.4	+	6	878	c.703A>T	c.(703-705)Atg>Ttg	p.M235L	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.M235L	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	235					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TGTTTTCGAGATGCTGCAGCA	0.468													9	28					0	0	0	0	T	45479008	A	T	45479008	3	4	267	1	0	0	0	0	1	0	0	0	16552	333	12	5	725	5	TRAPPC10	21	45479008	Missense_Mutation	SNP	A	TCGA-CV-6956-01A-21D-2012-08	29139238	45479008	2650887	209	47707											
SYN3	8224	broad.mit.edu	37	chr22	32909744	32909744	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtttcagccttggcctcgtCttcacttggggtcccacgct	3	13	11	14	2	3	0	2	0	1	0	5	0	4	0	3	4	1	2	3	4	0	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr22:32909744C>G	ENST00000358763.2	-	14	1920	c.1678G>C	c.(1678-1680)Gac>Cac	p.D560H	SYN3_ENST00000332840.5_Missense_Mutation_p.D560H|SYN3_ENST00000467095.1_5'UTR	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	560	E.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGGCCTCGTCTTCACTTGGG	0.562													28	55					0	0	0	0	G	32909744	C	G	32909744	3	3	267	1	0	0	0	0	1	0	0	0	15533	913	32	2	68	2	SYN3	22	32909744	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08		32909744	18394822	210	47708											
GRAP2	9402	broad.mit.edu	37	chr22	40364132	40364132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaatccgaccttcgatGaaccggaagctgtcggatca	13	7	11	10	4	1	2	1	1	0	1	4	7	2	4	3	2	2	1	3	2	4	1			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr22:40364132G>T	ENST00000344138.4	+	6	809	c.546G>T	c.(544-546)atG>atT	p.M182I	GRAP2_ENST00000399090.2_Missense_Mutation_p.M69I|GRAP2_ENST00000407075.3_Missense_Mutation_p.M182I|GRAP2_ENST00000543252.1_Missense_Mutation_p.M142I|GRAP2_ENST00000544756.1_Missense_Mutation_p.M110I|GRAP2_ENST00000540310.1_Missense_Mutation_p.M116I	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	182					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GACCTTCGATGAACCGGAAGC	0.657													8	10					0.00448238	0.00470824	1	0	T	40364132	G	T	40364132	3	4	267	1	0	0	0	0	1	0	0	0	6804	1290	45	2	564	2	GRAP2	22	40364132	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	7454388	40364132	10940434	211	47709											
PHF21B	112885	broad.mit.edu	37	chr22	45281799	45281799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatcccagtccagggcacaCcctcgtctttctttaaggcc	7	10	8	16	1	2	0	0	0	2	0	5	0	4	0	4	2	0	2	4	2	1	3			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr22:45281799C>T	ENST00000313237.5	-	11	1367	c.1217G>A	c.(1216-1218)gGt>gAt	p.G406D	PHF21B_ENST00000403565.1_Missense_Mutation_p.G202D|PHF21B_ENST00000404079.2_Missense_Mutation_p.G352D|PHF21B_ENST00000396103.3_Missense_Mutation_p.G364D	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	406							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCAGGGCACACCCTCGTCTTT	0.597													57	84					0	0	0	0	T	45281799	C	T	45281799	3	4	267	1	0	0	0	0	1	0	0	0	11906	507	18	4	390	4	PHF21B	22	45281799	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	4917667	45281799	6022767	212	47710											
CELSR1	9620	broad.mit.edu	37	chr22	46931727	46931727	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttctcgtcctccacctcGatgtacacggtggccgtggc	4	11	11	15	5	1	0	0	0	1	0	6	1	3	0	4	3	1	2	4	3	1	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr22:46931727G>T	ENST00000262738.3	-	1	1340	c.1341C>A	c.(1339-1341)atC>atA	p.I447I	CELSR1_ENST00000395964.1_Silent_p.I447I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	447	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTCCACCTCGATGTACACGG	0.667													16	35					1.52009e-12	1.74553e-12	1	0	T	46931727	G	T	46931727	2	4	267	1	0	0	0	0	0	0	0	1	3250	1048	37	3		3	CELSR1	22	46931727	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	1649928	46931727	4372839	213	47711											
NR0B1	190	broad.mit.edu	37	chrX	30327172	30327172	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacgaacagccccagcaCggacccagcgtcgcctcggg	8	2	12	19	6	0	0	0	0	0	0	2	2	0	1	5	2	4	2	5	2	1	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:30327172C>A	ENST00000378970.4	-	1	543	c.309G>T	c.(307-309)ccG>ccT	p.P103P	NR0B1_ENST00000453287.1_Silent_p.P103P	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	103	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	AGCCCCAGCACGGACCCAGCG	0.677											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	15					2.37509e-13	2.73894e-13	1	0	A	30327172	C	A	30327172	2	1	267	1	0	0	0	0	0	0	0	1	10684	523	19	3		3	NR0B1	23	30327172	Silent	SNP	C	TCGA-CV-6956-01A-21D-2012-08		30327172	124943388	214	47712											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686264	125686264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgccgcacaccacctGcctggagttcagccactgtg	6	9	11	15	1	1	0	1	0	0	0	1	1	1	1	5	2	3	2	5	2	0	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:125686264G>T	ENST00000371126.1	-	1	570	c.328C>A	c.(328-330)Cag>Aag	p.Q110K		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	110										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CACACCACCTGCCTGGAGTTC	0.637													36	17					4.65686e-17	5.63397e-17	1	0	T	125686264	G	T	125686264	3	4	267	1	0	0	0	0	1	0	0	0	4297	1328	46	4	1067	4	DCAF12L1	23	125686264	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	95359092	125686264	29584296	215	47713											
SMARCA1	6594	broad.mit.edu	37	chrX	128599869	128599869	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccttcgttgaattcttgcTtctccacgttcaatttgagc	7	17	6	11	2	3	2	1	2	2	0	6	2	4	2	2	0	2	3	2	0	2	7			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:128599869T>G	ENST00000371122.4	-	22	2898	c.2769A>C	c.(2767-2769)gaA>gaC	p.E923D	SMARCA1_ENST00000371121.3_Missense_Mutation_p.E911D|SMARCA1_ENST00000371123.1_Missense_Mutation_p.E911D	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	923					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GAATTCTTGCTTCTCCACGTT	0.333													29	21					0	0	0	0	G	128599869	T	G	128599869	3	3	267	1	0	0	0	0	1	0	0	0	14856	1606	56	5	407	5	SMARCA1	23	128599869	Missense_Mutation	SNP	T	TCGA-CV-6956-01A-21D-2012-08	2913605	128599869	26670691	216	47714											
GPC4	2239	broad.mit.edu	37	chrX	132438794	132438794	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagtcatcctcattgccGtttcctgcagccatcctctc	7	12	5	17	1	3	0	2	0	1	0	7	0	6	0	5	0	4	2	5	0	1	2			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:132438794G>A	ENST00000370828.3	-	7	1775	c.1251C>T	c.(1249-1251)aaC>aaT	p.N417N	GPC4_ENST00000535467.1_Silent_p.N347N	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	417					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CCTCATTGCCGTTTCCTGCAG	0.468													74	35					0	0	0	0	A	132438794	G	A	132438794	2	1	267	1	0	0	0	0	0	0	0	1	6649	1136	40	1		1	GPC4	23	132438794	Silent	SNP	G	TCGA-CV-6956-01A-21D-2012-08	3838925	132438794	22831766	217	47715											
GABRA3	2556	broad.mit.edu	37	chrX	151336735	151336735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catgcccttgatagctgactCccggttgacatatgtggccc	7	11	10	13	1	0	3	0	3	0	0	1	3	1	3	3	2	2	2	3	2	2	4			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:151336735C>T	ENST00000370314.4	-	10	1682	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.E482K|GABRA3_ENST00000370311.1_Missense_Mutation_p.E482K	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	482					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATAGCTGACTCCCGGTTGACA	0.498													35	13					0	0	0	0	T	151336735	C	T	151336735	3	4	267	1	0	0	0	0	1	0	0	0	6210	864	30	2	38	2	GABRA3	23	151336735	Missense_Mutation	SNP	C	TCGA-CV-6956-01A-21D-2012-08	18897941	151336735	3933825	218	47716											
ATP2B3	492	broad.mit.edu	37	chrX	152825277	152825277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcgacggagccacccacaGagtcgctgctgctgcggaag	8	5	15	13	4	0	1	0	0	0	1	1	4	0	3	2	3	4	3	2	3	1	0			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:152825277G>A	ENST00000370186.1	+	16	3000	c.2674G>A	c.(2674-2676)Gag>Aag	p.E892K	ATP2B3_ENST00000393842.1_Missense_Mutation_p.E892K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E892K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E906K|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E906K|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E906K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	906					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACCCACAGAGTCGCTGCT	0.597													35	11					0	0	0	0	A	152825277	G	A	152825277	3	1	267	1	0	0	0	0	1	0	0	0	1145	943	33	2	2778	2	ATP2B3	23	152825277	Missense_Mutation	SNP	G	TCGA-CV-6956-01A-21D-2012-08	1488542	152825277	2445283	219	47717											
KIF1B	23095	broad.mit.edu	37	chr1	10364155	10364155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaccctaaacacagaaactCttggagtcctgggacacata	15	7	7	12	0	1	1	0	0	1	1	2	3	2	3	2	2	3	0	2	2	5	3			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:10364155C>G	ENST00000377093.4	+	21	3065	c.2912C>G	c.(2911-2913)tCt>tGt	p.S971C	KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.S971C	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACAGAAACTCTTGGAGTCCT	0.463													29	104					0	0	0	0	G	10364155	C	G	10364155	3	3	268	1	0	0	0	0	1	0	0	0	8335	913	32	2	2990	2	KIF1B	1	10364155	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08		10364155	238886466	1	47718											
GPN2	54707	broad.mit.edu	37	chr1	27216255	27216255	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagagctccacctggcctggGcagtcgaagaggaagtagtg	10	6	15	10	1	0	2	0	0	0	2	2	4	1	3	3	3	1	3	3	3	3	1			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:27216255G>A	ENST00000374135.4	-	1	533	c.333C>T	c.(331-333)tgC>tgT	p.C111C		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	111							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						CCTGGCCTGGGCAGTCGAAGA	0.662													17	88					0	0	0	0	A	27216255	G	A	27216255	2	1	268	1	0	0	0	0	0	0	0	1	6667	1195	42	4		4	GPN2	1	27216255	Silent	SNP	G	TCGA-CV-6959-01A-11D-1912-08	16852100	27216255	222034366	2	47719											
CD247	919	broad.mit.edu	37	chr1	167409931	167409931	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaacaaggcagtgagaatGacaccatagatgaagaggat	18	5	13	5	0	0	5	0	3	0	3	0	8	0	7	1	3	1	1	1	3	5	1			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:167409931G>C	ENST00000392122.3	-	2	276	c.132C>G	c.(130-132)gtC>gtG	p.V44V	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000362089.5_Silent_p.V44V	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	44					interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			CAGTGAGAATGACACCATAGA	0.557													6	40					0	0	0	0	C	167409931	G	C	167409931	2	2	268	1	0	0	0	0	0	0	0	1	3017	1277	45	2		2	CD247	1	167409931	Silent	SNP	G	TCGA-CV-6959-01A-11D-1912-08	140193676	167409931	81840690	3	47720											
OR14C36	127066	broad.mit.edu	37	chr1	248513012	248513012	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttttattcagaaaatgtGtaagaaacccgagaggctca	15	12	8	6	1	2	3	2	0	0	3	2	4	2	3	1	1	1	2	1	1	5	5			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:248513012G>A	ENST00000317861.1	+	1	936	c.936G>A	c.(934-936)gtG>gtA	p.V312V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CAGAAAATGTGTAAGAAACCC	0.333													17	73					0	0	0	0	A	248513012	G	A	248513012	2	1	268	1	0	0	0	0	0	0	0	1	11017	1391	48	4		4	OR14C36	1	248513012	Silent	SNP	G	TCGA-CV-6959-01A-11D-1912-08	81103081	248513012	737609	4	47721											
OXER1	165140	broad.mit.edu	37	chr2	42991037	42991037	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggccaggattggtgccaGgaaggcagacaccagcgagg	11	3	17	10	1	0	1	0	0	0	1	0	4	0	3	3	6	2	1	3	6	1	1			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:42991037G>C	ENST00000378661.2	-	1	364	c.283C>G	c.(283-285)Ctg>Gtg	p.L95V		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	95					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						ATTGGTGCCAGGAAGGCAGAC	0.637													8	52					0	0	0	0	C	42991037	G	C	42991037	3	2	268	1	0	0	0	0	1	0	0	0	11402	991	35	4	992	4	OXER1	2	42991037	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08		42991037	200208336	5	47722											
SEMA4F	10505	broad.mit.edu	37	chr2	74883756	74883756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacacactttatgttggcGcccgggacaccatcttcgct	7	10	8	16	3	1	0	0	0	1	0	2	1	1	1	3	2	0	2	3	2	1	4			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:74883756G>A	ENST00000357877.2	+	2	390	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	SEMA4F_ENST00000339773.5_Missense_Mutation_p.A81T	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	81	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TTATGTTGGCGCCCGGGACAC	0.577													23	107					0	0	0	0	A	74883756	G	A	74883756	3	1	268	1	0	0	0	0	1	0	0	0	14122	1087	38	1	247	1	SEMA4F	2	74883756	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	31892719	74883756	168315617	6	47723											
TSGA10	80705	broad.mit.edu	37	chr2	99695246	99695246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagaatgctgatttcttctCgctgtgcaatattttgcctt	8	17	7	9	1	2	2	0	1	2	1	3	2	2	2	1	0	3	3	1	0	4	6			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:99695246C>T	ENST00000393483.3	-	12	1602	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	TSGA10_ENST00000410001.1_Missense_Mutation_p.R253Q|TSGA10_ENST00000355053.4_Missense_Mutation_p.R253Q|TSGA10_ENST00000542655.1_Missense_Mutation_p.R253Q|TSGA10_ENST00000539964.1_Missense_Mutation_p.R253Q|TSGA10_ENST00000478090.1_Intron	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	253					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GATTTCTTCTCGCTGTGCAAT	0.328													8	29					0	0	0	0	T	99695246	C	T	99695246	3	4	268	1	0	0	0	0	1	0	0	0	16712	884	31	1	1378	1	TSGA10	2	99695246	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08	24811490	99695246	143504127	7	47724											
UXS1	80146	broad.mit.edu	37	chr2	106774513	106774513	+	Splice_Site	DEL	C	C	-																															tattcaggtgtgcaaacttaCcaaaattcttttccgatcct																										TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:106774513delC	ENST00000283148.7	-	5	389		c.e5+1		UXS1_ENST00000540130.1_Splice_Site|UXS1_ENST00000479621.1_Splice_Site|UXS1_ENST00000409501.3_Splice_Site|UXS1_ENST00000428048.2_Intron	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1						cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TGCAAACTTACCAAAATTCTT	0.303													2	4	---	---	---	---					-	106774513	C	-	106774513	8	5	268	1	0	1	0	1	0	0	1	0	17205	521	18	0	1029	0	UXS1	2	106774513	Splice_Site	DEL	C	TCGA-CV-6959-01A-11D-1912-08	7079267	106774513	136424860	8	47725											
SH3RF3	344558	broad.mit.edu	37	chr2	110015235	110015235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaagaacaccaagaaaCgccactccttcaccgcgctc	14	4	7	16	3	1	3	1	0	0	3	3	3	2	3	4	0	2	2	4	0	5	1			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:110015235C>T	ENST00000309415.6	+	4	1135	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	379							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CACCAAGAAACGCCACTCCTT	0.597													3	21					0	0	0	0	T	110015235	C	T	110015235	3	4	268	1	0	0	0	0	1	0	0	0	14348	536	19	1	1149	1	SH3RF3	2	110015235	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08	3240722	110015235	133184138	9	47726											
THSD7B	80731	broad.mit.edu	37	chr2	138208533	138208533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgagaattcgatccaaatgGctaaaagaaaaaccttacaa	19	8	7	7	1	0	2	0	1	0	2	2	4	1	2	2	1	2	1	2	1	8	3			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:138208533G>T	ENST00000409968.1	+	15	3256	c.3078G>T	c.(3076-3078)tgG>tgT	p.W1026C	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.W995C|THSD7B_ENST00000272643.3_Missense_Mutation_p.W1026C					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATCCAAATGGCTAAAAGAAA	0.413													7	33					2.0095e-06	2.65357e-06	1	0	T	138208533	G	T	138208533	3	4	268	1	0	0	0	0	1	0	0	0	15974	1212	42	4	3039	4	THSD7B	2	138208533	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	28193298	138208533	104990840	10	47727											
TTN	7273	broad.mit.edu	37	chr2	179599567	179599567	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaattgacaaaatacattcgGactgtgttactttcactgag	13	13	8	7	1	1	2	1	2	0	0	2	4	1	3	0	1	2	1	0	1	5	5			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:179599567G>A	ENST00000589042.1	-	51	15308	c.15084C>T	c.(15082-15084)gtC>gtT	p.V5028V	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V3784V|TTN_ENST00000591111.1_Silent_p.V4711V|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4711	Ig-like 30.						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)			AATACATTCGGACTGTGTTAC	0.418													9	74					0	0	0	0	A	179599567	G	A	179599567	2	1	268	1	0	0	0	0	0	0	0	1	16831	1161	41	2		2	TTN	2	179599567	Silent	SNP	G	TCGA-CV-6959-01A-11D-1912-08	41391034	179599567	63599806	11	47728											
HECW2	57520	broad.mit.edu	37	chr2	197184307	197184307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacccatggacctctcagagCaggtcgctgtccccggcctg	6	7	11	17	2	1	1	1	0	1	1	4	2	2	2	5	3	1	2	5	3	0	0			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:197184307C>A	ENST00000260983.2	-	9	1489	c.1307G>T	c.(1306-1308)tGc>tTc	p.C436F	HECW2_ENST00000409111.1_Missense_Mutation_p.C80F	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	436					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCTCAGAGCAGGTCGCTGT	0.498													25	41					5.45024e-15	8.37873e-15	1	0	A	197184307	C	A	197184307	3	1	268	1	0	0	0	0	1	0	0	0	7093	710	25	4	3495	4	HECW2	2	197184307	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08	17584740	197184307	46015066	12	47729											
SLC16A14	151473	broad.mit.edu	37	chr2	230911039	230911039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctgtgcccggcctgatcgGggcactcctgggcttgcagg	3	9	15	14	2	0	1	0	1	0	0	3	1	2	1	4	5	2	3	4	5	0	1			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:230911039G>T	ENST00000295190.4	-	4	1261	c.803C>A	c.(802-804)cCc>cAc	p.P268H		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	268						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGCCTGATCGGGGCACTCCTG	0.577													27	129					1.26454e-06	1.69153e-06	1	0	T	230911039	G	T	230911039	3	4	268	1	0	0	0	0	1	0	0	0	14495	1232	43	4	737	4	SLC16A14	2	230911039	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	33726732	230911039	12288334	13	47730											
CHL1	10752	broad.mit.edu	37	chr3	447203	447203	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgaaaagcctctcaaaGgaagccttcggtcccttaat	12	10	9	10	1	1	2	1	2	1	0	4	3	2	3	3	2	2	0	3	2	5	2			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:447203G>T	ENST00000256509.2	+	28	4126	c.3484G>T	c.(3484-3486)Gga>Tga	p.G1162*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.G1146*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1146					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCCTCTCAAAGGAAGCCTTCG	0.398													7	31					2.7689e-08	3.80262e-08	1	0	T	447203	G	T	447203	4	4	268	1	0	0	0	0	0	1	0	0	3378	1001	35	4	3586	4	CHL1	3	447203	Nonsense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08		447203	197575227	14	47731											
SCN10A	6336	broad.mit.edu	37	chr3	38739945	38739945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcggatccccttggccGctcggatcagtctgaggatg	5	10	15	11	3	2	1	1	1	1	0	4	4	3	4	3	4	1	1	3	4	0	1			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:38739945G>A	ENST00000449082.2	-	27	4765	c.4766C>T	c.(4765-4767)gCg>gTg	p.A1589V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1589					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCCCTTGGCCGCTCGGATCAG	0.522													17	67					0	0	0	0	A	38739945	G	A	38739945	3	1	268	1	0	0	0	0	1	0	0	0	13999	1087	38	1	1108	1	SCN10A	3	38739945	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	38292742	38739945	159282485	15	47732											
AMIGO3	386724	broad.mit.edu	37	chr3	49755604	49755605	+	Frame_Shift_Del	DEL	TG	TG	-																															tggtgctgagtactgaggacTgtgcgctcagctcttggagc																										TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:49755604_49755605delTG	ENST00000535833.1	-	10	4744_4745	c.1294_1295delCA	c.(1294-1296)gfs	p.Q432fs	AMIGO3_ENST00000320431.7_Frame_Shift_Del_p.Q432fs|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron|GMPPB_ENST00000480687.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	432					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACTGAGGACTGTGCGCTCAGC	0.683													27	108	---	---	---	---					-	49755605	TG	-	49755604	7	5	268	1	0	1	0	1	0	0	0	0	577	1580	55	0	223	0	AMIGO3	3	49755604	Frame_Shift_Del	DEL	TG	TCGA-CV-6959-01A-11D-1912-08	11015659	49755604	148266826	16	47733											
ROBO1	6091	broad.mit.edu	37	chr3	78711146	78711146	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atattgtaacaactcactgtCcagtgcacttcgatggaaga	13	11	8	9	1	1	1	1	0	0	1	3	3	2	2	1	1	3	2	1	1	4	4			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:78711146C>G	ENST00000436010.2	-	13	2965	c.1968G>C	c.(1966-1968)tgG>tgC	p.W656C	ROBO1_ENST00000467549.1_Missense_Mutation_p.W659C|ROBO1_ENST00000464233.1_Missense_Mutation_p.W695C|ROBO1_ENST00000495273.1_Missense_Mutation_p.W659C			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	695					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AACTCACTGTCCAGTGCACTT	0.453													4	10					0	0	0	0	G	78711146	C	G	78711146	3	3	268	1	0	0	0	0	1	0	0	0	13598	856	30	2	2938	2	ROBO1	3	78711146	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08	28955542	78711146	119311284	17	47734											
RHO	6010	broad.mit.edu	37	chr3	129247885	129247885	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctctctgcatggatacttCgtcttcgggcccacaggatg	7	11	10	13	2	2	0	0	0	2	0	5	2	2	2	2	3	2	1	2	3	1	3	rs149615742	byFrequency	TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:129247885C>T	ENST00000296271.3	+	1	403	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	103					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ATGGATACTTCGTCTTCGGGC	0.602													21	148					0	0	0	0	T	129247885	C	T	129247885	2	4	268	1	0	0	0	0	0	0	0	1	13413	883	31	1		1	RHO	3	129247885	Silent	SNP	C	TCGA-CV-6959-01A-11D-1912-08	50536739	129247885	68774545	18	47735											
CFI	3426	broad.mit.edu	37	chr4	110667595	110667595	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattcaattactatacgtttAaggtcggggtgtatccagtc	10	15	9	7	2	1	0	1	0	0	0	4	0	2	0	1	3	2	2	1	3	7	8			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr4:110667595A>G	ENST00000394634.2	-	11	1419	c.1212T>C	c.(1210-1212)ctT>ctC	p.L404L	CFI_ENST00000394635.3_Silent_p.L412L|CFI_ENST00000512148.1_Silent_p.L397L	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	404	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CTATACGTTTAAGGTCGGGGT	0.328													6	39					0	0	0	0	G	110667595	A	G	110667595	2	3	268	1	0	0	0	0	0	0	0	1	3318	349	13	5		5	CFI	4	110667595	Silent	SNP	A	TCGA-CV-6959-01A-11D-1912-08		110667595	80486681	19	47736											
CASP3	836	broad.mit.edu	37	chr4	185553070	185553070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacaaacaaaactgctcCttttgctgtgatcttcttta	11	14	5	11	0	2	1	0	1	2	0	3	1	3	1	1	0	4	3	1	0	4	5			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr4:185553070C>T	ENST00000308394.4	-	6	594	c.332G>A	c.(331-333)aGg>aAg	p.R111K	CASP3_ENST00000523916.1_Missense_Mutation_p.R111K|CASP3_ENST00000393585.2_Missense_Mutation_p.R111K|CASP3_ENST00000517513.1_Missense_Mutation_p.R111K|CASP3_ENST00000393588.4_Missense_Mutation_p.R111K	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	111					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	AAAACTGCTCCTTTTGCTGTG	0.328													38	86					0	0	0	0	T	185553070	C	T	185553070	3	4	268	1	0	0	0	0	1	0	0	0	2697	681	24	4	513	4	CASP3	4	185553070	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08	74885475	185553070	5601206	20	47737											
FAT1	2195	broad.mit.edu	37	chr4	187521088	187521088	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgcaaacgcctccattctGgcaagggttgctggcgcagt	8	10	12	11	2	1	0	0	0	1	0	2	0	2	0	2	3	3	5	2	3	2	3			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr4:187521088G>A	ENST00000441802.2	-	22	12276	c.12067C>T	c.(12067-12069)Cag>Tag	p.Q4023*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4023	EGF-like 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCTCCATTCTGGCAAGGGTTG	0.537										HNSCC(5;0.00058)			9	59					0	0	0	0	A	187521088	G	A	187521088	4	1	268	1	0	0	0	0	0	1	0	0	5734	1357	47	4	1723	4	FAT1	4	187521088	Nonsense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	1968018	187521088	3633188	21	47738											
RASA1	5921	broad.mit.edu	37	chr5	86659245	86659245	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttattttgaaagcgaaaaaCgagctaccaaaccaaaagga	19	8	7	7	2	0	1	0	1	0	0	0	4	0	2	2	1	5	1	2	1	8	5			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr5:86659245C>T	ENST00000456692.2	+	11	1118	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	RASA1_ENST00000512763.1_Nonsense_Mutation_p.R345*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.R346*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.R512*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	512	SH3.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAGCGAAAAACGAGCTACCAA	0.328													18	31					0	0	0	0	T	86659245	C	T	86659245	4	4	268	1	0	0	0	0	0	1	0	0	13142	528	19	1	1588	1	RASA1	5	86659245	Nonsense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08		86659245	94256015	22	47739											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768679	140768679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagatgctgttctagacCgcgagcagaatccagagtac	12	8	11	10	2	1	5	0	1	1	4	2	6	2	5	2	0	3	4	2	0	3	3			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr5:140768679C>T	ENST00000519479.1	+	1	1228	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTAGACCGCGAGCAGAA	0.438													23	98					0	0	0	0	T	140768679	C	T	140768679	3	4	268	1	0	0	0	0	1	0	0	0	11636	652	23	1	1230	1	PCDHGB4	5	140768679	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08	54109434	140768679	40146581	23	47740											
HIST1H3I	8354	broad.mit.edu	37	chr6	27839920	27839920	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccggattagcagctcggtCgacttctggtagcggcggat	6	11	14	10	5	1	0	0	0	1	0	4	3	2	2	1	5	3	3	1	5	2	4			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:27839920C>T	ENST00000328488.2	-	1	179	c.174G>A	c.(172-174)tcG>tcA	p.S58S		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	58					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAGCTCGGTCGACTTCTGGT	0.652													21	134					0	0	0	0	T	27839920	C	T	27839920	2	4	268	1	0	0	0	0	0	0	0	1	7213	871	31	1		1	HIST1H3I	6	27839920	Silent	SNP	C	TCGA-CV-6959-01A-11D-1912-08		27839920	143275147	24	47741											
EHMT2	10919	broad.mit.edu	37	chr6	31847881	31847881	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtgttgacagggggcaGggagccgagctcgggcagca	8	6	18	9	2	1	1	1	1	0	0	2	3	1	2	1	4	3	5	1	4	0	1			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:31847881G>A	ENST00000395728.3	-	27	3783	c.3784C>T	c.(3784-3786)Ctg>Ttg	p.L1262L	EHMT2_ENST00000375530.4_Silent_p.L1171L|EHMT2_ENST00000375528.4_Silent_p.L1228L|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.L1205L			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1205					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						ACAGGGGGCAGGGAGCCGAGC	0.657													20	53					0	0	0	0	A	31847881	G	A	31847881	2	1	268	1	0	0	0	0	0	0	0	1	5020	991	35	4		4	EHMT2	6	31847881	Silent	SNP	G	TCGA-CV-6959-01A-11D-1912-08	4007961	31847881	139267186	25	47742											
RIMS1	22999	broad.mit.edu	37	chr6	72968754	72968754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagacaccatgatgcctcccGaagtccagttgatcatagaa	13	8	8	12	1	1	4	1	2	0	2	3	5	3	4	4	0	1	1	4	0	3	2			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:72968754G>A	ENST00000264839.7	+	18	2993	c.2993G>A	c.(2992-2994)cGa>cAa	p.R998Q	RIMS1_ENST00000521978.1_Missense_Mutation_p.R998Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000518273.1_Missense_Mutation_p.R998Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.R998Q|RIMS1_ENST00000401910.3_Missense_Mutation_p.R471Q|RIMS1_ENST00000517827.1_Missense_Mutation_p.R457Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.R997Q|RIMS1_ENST00000523963.1_Missense_Mutation_p.R472Q|RIMS1_ENST00000522291.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000425662.2_Missense_Mutation_p.R391Q			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	998					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R998Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GATGCCTCCCGAAGTCCAGTT	0.353													13	85					0	0	0	0	A	72968754	G	A	72968754	3	1	268	1	0	0	0	0	1	0	0	0	13452	1058	37	1	3226	1	RIMS1	6	72968754	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	41120873	72968754	98146313	26	47743											
DOPEY1	23033	broad.mit.edu	37	chr6	83872585	83872585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagggtatacatcaacgaGaatttaaaccttacgtggta	14	10	10	7	2	1	1	1	0	0	1	1	2	1	1	1	3	4	3	1	3	8	6			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:83872585G>A	ENST00000349129.2	+	38	7299	c.7039G>A	c.(7039-7041)Gaa>Aaa	p.E2347K	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E2338K|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E2231K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2347					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACATCAACGAGAATTTAAACC	0.393													38	84					0	0	0	0	A	83872585	G	A	83872585	3	1	268	1	0	0	0	0	1	0	0	0	4743	943	33	2	7181	2	DOPEY1	6	83872585	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	10903831	83872585	87242482	27	47744											
GRM1	2911	broad.mit.edu	37	chr6	146755794	146755794	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgctgacgcctccgtcGcctttccgcgactcggtggc	2	9	12	18	7	0	1	0	1	0	0	4	2	2	1	5	2	1	1	5	2	0	1			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:146755794G>A	ENST00000361719.2	+	9	3917	c.3447G>A	c.(3445-3447)tcG>tcA	p.S1149S	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Silent_p.S1149S|GRM1_ENST00000392299.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1149	Ser-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGCCTCCGTCGCCTTTCCGCG	0.652													21	77					0	0	0	0	A	146755794	G	A	146755794	2	1	268	1	0	0	0	0	0	0	0	1	6846	1074	38	1		1	GRM1	6	146755794	Silent	SNP	G	TCGA-CV-6959-01A-11D-1912-08	62883209	146755794	24359273	28	47745											
NXPH1	30010	broad.mit.edu	37	chr7	8790658	8790658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcacatgtgccaatttaacGaacggtggaaagtcagaact	14	9	10	8	2	2	1	2	0	0	1	2	3	2	2	1	2	4	0	1	2	5	2			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr7:8790658G>A	ENST00000405863.1	+	3	986	c.75G>A	c.(73-75)acG>acA	p.T25T	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	25	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCAATTTAACGAACGGTGGAA	0.423													32	69					0	0	0	0	A	8790658	G	A	8790658	2	1	268	1	0	0	0	0	0	0	0	1	10861	1045	37	1		1	NXPH1	7	8790658	Silent	SNP	G	TCGA-CV-6959-01A-11D-1912-08		8790658	150348005	29	47746											
HECW1	23072	broad.mit.edu	37	chr7	43484716	43484716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggcgcggcccaggatggcGacacgcaccccagcaccggg	8	2	15	16	5	0	0	0	0	0	0	0	2	0	1	4	5	1	2	4	5	0	0			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr7:43484716G>A	ENST00000395891.1	+	11	2550	c.1945G>A	c.(1945-1947)Gac>Aac	p.D649N	HECW1_ENST00000453890.1_Missense_Mutation_p.D649N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	649					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCAGGATGGCGACACGCACCC	0.721													9	17					0	0	0	0	A	43484716	G	A	43484716	3	1	268	1	0	0	0	0	1	0	0	0	7092	1058	37	1	1979	1	HECW1	7	43484716	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	34694058	43484716	115653947	30	47747											
LRRN3	54674	broad.mit.edu	37	chr7	110763263	110763263	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcaacttacaagaactCtatattaatcacaacttgct	15	12	4	10	0	2	2	1	1	1	1	2	2	2	2	0	0	6	2	0	0	8	5			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr7:110763263C>A	ENST00000451085.1	+	4	1481	c.435C>A	c.(433-435)ctC>ctA	p.L145L	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Silent_p.L145L|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Silent_p.L145L|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	145						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACAAGAACTCTATATTAATC	0.373													5	49					0.00116845	0.00150437	1	0	A	110763263	C	A	110763263	2	1	268	1	0	0	0	0	0	0	0	1	9100	900	32	2		2	LRRN3	7	110763263	Silent	SNP	C	TCGA-CV-6959-01A-11D-1912-08	67278547	110763263	48375400	31	47748											
TNFRSF10B	8795	broad.mit.edu	37	chr8	22900702	22900702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttttgttgtggggccgCtctctgctggggagctaggt	2	14	15	10	1	2	0	0	0	2	0	3	1	2	1	2	5	2	4	2	5	1	4			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr8:22900702C>T	ENST00000276431.4	-	2	483	c.199G>A	c.(199-201)Gcg>Acg	p.A67T	TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000542226.1_Intron|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.A67T	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	67			A -> V (in dbSNP:rs1047266).		activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TGTGGGGCCGCTCTCTGCTGG	0.572													5	38					0	0	0	0	T	22900702	C	T	22900702	3	4	268	1	0	0	0	0	1	0	0	0	16375	797	28	4	1155	4	TNFRSF10B	8	22900702	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08		22900702	123463320	32	47749											
XKR4	114786	broad.mit.edu	37	chr8	56015652	56015652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcggcggtgggtctgcaGccggggaaggcgaggctcgt	4	7	21	9	5	1	0	0	0	1	0	3	2	1	1	1	8	2	2	1	8	1	0			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr8:56015652G>T	ENST00000327381.5	+	1	704	c.604G>T	c.(604-606)Gcc>Tcc	p.A202S		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	202						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGGGTCTGCAGCCGGGGAAGG	0.677													15	38					6.72482e-11	9.75573e-11	1	0	T	56015652	G	T	56015652	3	4	268	1	0	0	0	0	1	0	0	0	17529	971	34	4	606	4	XKR4	8	56015652	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	33114950	56015652	90348370	33	47750											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	9					0	0	0	0	A	21971120	G	A	21971120	4	1	268	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08		21971120	119242311	34	47751											
VPS13A	23230	broad.mit.edu	37	chr9	79938130	79938130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtaagaaggtcacaattcGctccccagtgcaggtatgaa	14	8	10	9	1	1	2	1	1	0	1	3	2	2	2	2	2	1	4	2	2	6	3			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:79938130G>T	ENST00000360280.3	+	45	6238	c.5978G>T	c.(5977-5979)cGc>cTc	p.R1993L	VPS13A_ENST00000376636.3_Missense_Mutation_p.R1954L|VPS13A_ENST00000357409.5_Missense_Mutation_p.R1993L|VPS13A_ENST00000376634.4_Missense_Mutation_p.R1993L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1993					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTCACAATTCGCTCCCCAGTG	0.383													17	33					3.41278e-10	4.8153e-10	1	0	T	79938130	G	T	79938130	3	4	268	1	0	0	0	0	1	0	0	0	17285	1087	38	3	6156	3	VPS13A	9	79938130	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	57967010	79938130	61275301	35	47752											
ACTL7B	10880	broad.mit.edu	37	chr9	111617576	111617576	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaggcccggcagcacgtcgCcctcggatatgggcaccacg	7	5	13	16	5	1	0	1	0	0	0	3	1	1	1	3	4	1	3	3	4	1	1			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:111617576C>G	ENST00000374667.3	-	1	1663	c.635G>C	c.(634-636)gGc>gCc	p.G212A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	212						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGCACGTCGCCCTCGGATAT	0.662													6	38					0	0	0	0	G	111617576	C	G	111617576	3	3	268	1	0	0	0	0	1	0	0	0	201	739	26	4	616	4	ACTL7B	9	111617576	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08	31679446	111617576	29595855	36	47753											
MEGF9	1955	broad.mit.edu	37	chr9	123476176	123476176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacaggggtggtcggcgccGggccagtggtcgtcgaaagg	6	6	19	10	5	0	0	0	0	0	0	3	1	0	0	2	7	1	0	2	7	2	1			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:123476176G>T	ENST00000373930.3	-	1	572	c.461C>A	c.(460-462)cCg>cAg	p.P154Q	MEGF9_ENST00000426959.1_Missense_Mutation_p.P146Q	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	154	Pro-rich.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GGTCGGCGCCGGGCCAGTGGT	0.741													6	47					2.74318e-10	3.92427e-10	1	0	T	123476176	G	T	123476176	3	4	268	1	0	0	0	0	1	0	0	0	9533	1116	39	3	1514	3	MEGF9	9	123476176	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	11858600	123476176	17737255	37	47754											
NOTCH1	4851	broad.mit.edu	37	chr9	139405210	139405210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaggatgcgccgtgccGgcacgggctcagaacgcact	7	5	15	14	5	1	1	1	0	0	1	1	2	1	2	2	4	3	4	2	4	1	0			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:139405210G>A	ENST00000277541.6	-	17	2710	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	879	EGF-like 23; calcium-binding (Potential).		R -> W (in dbSNP:rs11574895).		aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGCCGTGCCGGCACGGGCTC	0.701			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			11	43					0	0	0	0	A	139405210	G	A	139405210	3	1	268	1	0	0	0	0	1	0	0	0	10617	1115	39	1	5104	1	NOTCH1	9	139405210	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	15929034	139405210	1808221	38	47755											
ZMYND11	10771	broad.mit.edu	37	chr10	294467	294467	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccatgacaaatacaccaaGatcttcaatgacttcaaaga	17	9	5	10	0	3	4	2	2	1	2	3	4	3	4	2	0	2	0	2	0	5	3			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:294467G>C	ENST00000309776.4	+	13	1847	c.1299G>C	c.(1297-1299)aaG>aaC	p.K433N	ZMYND11_ENST00000381607.4_Missense_Mutation_p.K379N|ZMYND11_ENST00000558098.2_Missense_Mutation_p.K473N|ZMYND11_ENST00000402736.1_Missense_Mutation_p.K442N|ZMYND11_ENST00000381604.4_Missense_Mutation_p.K433N|ZMYND11_ENST00000545619.1_Missense_Mutation_p.K353N|ZMYND11_ENST00000403354.1_Missense_Mutation_p.K393N|ZMYND11_ENST00000381602.4_Missense_Mutation_p.K433N|ZMYND11_ENST00000535374.1_Missense_Mutation_p.K268N|ZMYND11_ENST00000381584.1_Missense_Mutation_p.K456N|ZMYND11_ENST00000381591.1_Missense_Mutation_p.K473N|ZMYND11_ENST00000509513.2_Missense_Mutation_p.K472N|ZMYND11_ENST00000397962.3_Missense_Mutation_p.K473N|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000397959.3_Missense_Mutation_p.K388N|ZMYND11_ENST00000602682.1_Missense_Mutation_p.K388N	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	433	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AATACACCAAGATCTTCAATG	0.512													16	67					0	0	0	0	C	294467	G	C	294467	3	2	268	1	0	0	0	0	1	0	0	0	17801	933	33	2	1465	2	ZMYND11	10	294467	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08		294467	135240280	39	47756											
BEND7	222389	broad.mit.edu	37	chr10	13489310	13489310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtctttcatcactgtccGcgatctctgctggttacaaa	8	13	7	13	2	4	0	2	0	2	0	6	1	5	0	2	1	2	2	2	1	2	2			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:13489310G>A	ENST00000341083.3	-	8	1333	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	BEND7_ENST00000396900.2_Missense_Mutation_p.A397V|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000378605.3_Missense_Mutation_p.A358V|BEND7_ENST00000396898.2_Missense_Mutation_p.A410V	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	397	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						ATCACTGTCCGCGATCTCTGC	0.388													13	63					0	0	0	0	A	13489310	G	A	13489310	3	1	268	1	0	0	0	0	1	0	0	0	1407	1087	38	1	389	1	BEND7	10	13489310	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	13194843	13489310	122045437	40	47757											
SLC18A3	6572	broad.mit.edu	37	chr10	50820226	50820226	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgacgcgctcccgttcCgagcgcgatgtgctgcttga	4	10	12	15	6	0	2	0	2	0	0	3	4	3	2	3	0	3	4	3	0	0	2			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:50820226C>T	ENST00000374115.3	+	1	1880	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	480					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCTCCCGTTCCGAGCGCGATG	0.657													13	53					0	0	0	0	T	50820226	C	T	50820226	2	4	268	1	0	0	0	0	0	0	0	1	14515	639	23	1		1	SLC18A3	10	50820226	Silent	SNP	C	TCGA-CV-6959-01A-11D-1912-08	37330916	50820226	84714521	41	47758											
TET1	80312	broad.mit.edu	37	chr10	70451332	70451332	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaacctaaataagcccCaacatggttttgaactaaac	19	8	4	10	0	0	1	0	1	0	0	0	1	0	1	3	1	5	1	3	1	9	5			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:70451332C>A	ENST00000373644.4	+	12	6381	c.6172C>A	c.(6172-6174)Caa>Aaa	p.Q2058K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2058					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAATAAGCCCCAACATGGTTT	0.453													14	56					7.93312e-07	1.07515e-06	1	0	A	70451332	C	A	70451332	3	1	268	1	0	0	0	0	1	0	0	0	15863	595	21	4	6214	4	TET1	10	70451332	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08	19631106	70451332	65083415	42	47759											
SIRT3	23410	broad.mit.edu	37	chr11	224206	224206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacaacgccggtgcagaccgGgcagcggggaaccctgtctg	8	4	15	14	4	1	1	0	0	1	1	1	2	1	2	3	4	4	2	3	4	2	0			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr11:224206G>A	ENST00000382743.4	-	5	943	c.841C>T	c.(841-843)Ccg>Tcg	p.P281S	SIRT3_ENST00000532956.1_Intron|SIRT3_ENST00000524564.1_Missense_Mutation_p.P217S|SIRT3_ENST00000529382.1_Missense_Mutation_p.P139S|SIRT3_ENST00000525319.1_Missense_Mutation_p.P200S	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	281	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		GTGCAGACCGGGCAGCGGGGA	0.557													9	43					0	0	0	0	A	224206	G	A	224206	3	1	268	1	0	0	0	0	1	0	0	0	14427	1232	43	4	370	4	SIRT3	11	224206	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08		224206	134782310	43	47760											
NAV2	89797	broad.mit.edu	37	chr11	20119140	20119140	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caggaatacatcattcatgtCgacccagtgagtcagctagg	12	9	10	10	1	3	1	3	1	0	0	4	3	3	2	1	2	2	1	1	2	3	3			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr11:20119140C>G	ENST00000396085.1	+	32	6400	c.6039C>G	c.(6037-6039)gtC>gtG	p.V2013V	NAV2_ENST00000533917.1_Silent_p.V1074V|NAV2_ENST00000311043.8_Silent_p.V1074V|NAV2_ENST00000540292.1_Silent_p.V2000V|NAV2_ENST00000396087.3_Silent_p.V2069V|NAV2_ENST00000360655.4_Silent_p.V1946V|NAV2_ENST00000349880.4_Silent_p.V2010V|NAV2_ENST00000527559.2_Silent_p.V1998V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2069						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCATTCATGTCGACCCAGTGA	0.448													11	65					0	0	0	0	G	20119140	C	G	20119140	2	3	268	1	0	0	0	0	0	0	0	1	10254	871	31	3		3	NAV2	11	20119140	Silent	SNP	C	TCGA-CV-6959-01A-11D-1912-08	19894934	20119140	114887376	44	47761											
LRP6	4040	broad.mit.edu	37	chr12	12303861	12303861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtcatagtcaatggccCggacattccgaaggctgtgg	8	9	15	9	2	2	0	2	0	0	0	3	2	3	1	2	5	0	1	2	5	3	2			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:12303861C>T	ENST00000261349.4	-	13	2979	c.2903G>A	c.(2902-2904)cGg>cAg	p.R968Q	LRP6_ENST00000543091.1_Missense_Mutation_p.R968Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	968	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.R968L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTCAATGGCCCGGACATTCCG	0.493													46	104					0	0	0	0	T	12303861	C	T	12303861	3	4	268	1	0	0	0	0	1	0	0	0	9026	652	23	1	1982	1	LRP6	12	12303861	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08		12303861	121548034	45	47762											
LRRK2	120892	broad.mit.edu	37	chr12	40716168	40716168	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	accacattgattctctcatgGaagaatggtttcctgggttg	9	14	10	8	0	2	2	1	1	1	1	4	3	3	3	2	3	0	2	2	3	2	4			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:40716168G>C	ENST00000298910.7	+	37	5423	c.5365G>C	c.(5365-5367)Gaa>Caa	p.E1789Q		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1789					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCTCTCATGGAAGAATGGTT	0.403													30	171					0	0	0	0	C	40716168	G	C	40716168	3	2	268	1	0	0	0	0	1	0	0	0	9097	1175	41	2	5511	2	LRRK2	12	40716168	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	28412307	40716168	93135727	46	47763											
KRT83	3889	broad.mit.edu	37	chr12	52714887	52714887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgatgcatggggggctgGgtccgcacacgcccccggag	5	6	18	12	3	0	1	0	1	0	0	1	2	1	2	3	6	1	3	3	6	0	0			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:52714887G>T	ENST00000293670.3	-	1	295	c.233C>A	c.(232-234)cCc>cAc	p.P78H		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	78	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGGGGGCTGGGTCCGCACAC	0.701													48	116					4.64027e-19	7.24163e-19	1	0	T	52714887	G	T	52714887	3	4	268	1	0	0	0	0	1	0	0	0	8549	1232	43	4	1284	4	KRT83	12	52714887	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	11998719	52714887	81137008	47	47764											
HPD	3242	broad.mit.edu	37	chr12	122294232	122294232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccaggtgctttcttacctGcacgatgtagtcacaatctt	9	13	7	12	1	3	0	1	0	2	0	3	1	3	0	2	1	3	3	2	1	3	4			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:122294232G>T	ENST00000543163.1	-	7	650	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	HPD_ENST00000289004.4_Missense_Mutation_p.Q108K|RP11-7M8.2_ENST00000543848.1_RNA	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	108					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TTTCTTACCTGCACGATGTAG	0.582													21	54					3.5997e-14	5.45249e-14	1	0	T	122294232	G	T	122294232	3	4	268	1	0	0	0	0	1	0	0	0	7382	1328	46	4	895	4	HPD	12	122294232	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	69579345	122294232	11557663	48	47765											
CGNL1	84952	broad.mit.edu	37	chr15	57732649	57732649	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagacagctaagcagattctCtacaattacctcaaagaagg	16	8	8	9	0	2	3	1	0	1	3	3	4	2	3	1	1	4	2	1	1	6	4			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr15:57732649C>T	ENST00000281282.5	+	3	1755	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	559						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAGATTCTCTACAATTACC	0.443													5	4					0	0	0	0	T	57732649	C	T	57732649	2	4	268	1	0	0	0	0	0	0	0	1	3333	900	32	2		2	CGNL1	15	57732649	Silent	SNP	C	TCGA-CV-6959-01A-11D-1912-08		57732649	44798743	49	47766											
HCN4	10021	broad.mit.edu	37	chr15	73635796	73635796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagaggctgaggatcttcGtgaagcggacaatgcgcagg	11	7	16	7	3	1	3	0	2	1	1	2	5	1	5	0	4	2	3	0	4	3	2			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr15:73635796G>A	ENST00000261917.3	-	2	2132	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	380					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GAGGATCTTCGTGAAGCGGAC	0.552													7	41					0	0	0	0	A	73635796	G	A	73635796	3	1	268	1	0	0	0	0	1	0	0	0	7049	1145	40	1	2500	1	HCN4	15	73635796	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	15903147	73635796	28895596	50	47767											
ADAMTS18	170692	broad.mit.edu	37	chr16	77465453	77465453	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgttgtgcaaaatgtcGtgtgaaatatatgacccggc	10	11	11	9	3	0	2	0	2	0	0	1	2	0	2	2	1	2	2	2	1	5	3			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr16:77465453G>A	ENST00000282849.5	-	3	652	c.234C>T	c.(232-234)caC>caT	p.H78H	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	78					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCAAAATGTCGTGTGAAATAT	0.488													52	274					0	0	0	0	A	77465453	G	A	77465453	2	1	268	1	0	0	0	0	0	0	0	1	263	1136	40	1		1	ADAMTS18	16	77465453	Silent	SNP	G	TCGA-CV-6959-01A-11D-1912-08		77465453	12889300	51	47768											
AIPL1	23746	broad.mit.edu	37	chr17	6330371	6330371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctggtaatcactcggggCatcaacctggccccagagct	8	8	10	15	1	3	1	2	0	1	1	4	1	3	1	4	4	2	3	4	4	2	1			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:6330371C>T	ENST00000381129.3	-	4	552	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	AIPL1_ENST00000250087.5_Missense_Mutation_p.A95T|AIPL1_ENST00000576776.1_Missense_Mutation_p.A158T|AIPL1_ENST00000576307.1_Missense_Mutation_p.A98T|AIPL1_ENST00000575265.1_Missense_Mutation_p.A158T|AIPL1_ENST00000574506.1_Missense_Mutation_p.A146T|AIPL1_ENST00000571740.1_Intron|AIPL1_ENST00000570466.1_Missense_Mutation_p.A136T	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	158					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		TCACTCGGGGCATCAACCTGG	0.602													21	82					0	0	0	0	T	6330371	C	T	6330371	3	4	268	1	0	0	0	0	1	0	0	0	436	710	25	4	694	4	AIPL1	17	6330371	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08		6330371	74864839	52	47769											
POLR2A	5430	broad.mit.edu	37	chr17	7414779	7414779	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agaagatcatcatcacggagGatggggaattcaaggccctg	13	7	13	8	1	4	2	4	0	0	2	4	5	4	5	1	5	0	0	1	5	3	1			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:7414779G>C	ENST00000322644.6	+	24	4372	c.3973G>C	c.(3973-3975)Gat>Cat	p.D1325H		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1325					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.I1322_W1334del(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CATCACGGAGGATGGGGAATT	0.582													4	34					0	0	0	0	C	7414779	G	C	7414779	3	2	268	1	0	0	0	0	1	0	0	0	12286	1174	41	2	4067	2	POLR2A	17	7414779	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	1084408	7414779	73780431	53	47770											
TP53	7157	broad.mit.edu	37	chr17	7579390	7579393	+	Frame_Shift_Del	DEL	GGAA	GGAA	-																															ctgccctggtaggttttctgGgaagggacagaagatgacag																										TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:7579390_7579393delGGAA	ENST00000420246.2	-	4	426_429	c.294_297delTTCC	c.(292-297)ccfs	p.PS98fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.PS98fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PS98fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PS98fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PS98fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PS98fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	98	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S99fs*48(3)|p.S99fs*23(3)|p.Q100fs*37(3)|p.G59fs*23(3)|p.S99F(2)|p.V73fs*9(1)|p.S99P(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S99fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGTTTTCTGGGAAGGGACAGAAG	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			72	59	---	---	---	---					-	7579393	GGAA	-	7579390	7	5	268	1	0	1	0	1	0	0	0	0	16476	1219	43	0	1005	0	TP53	17	7579390	Frame_Shift_Del	DEL	GGAA	TCGA-CV-6959-01A-11D-1912-08	164611	7579390	73615820	54	47771											
MYO1D	4642	broad.mit.edu	37	chr17	31094740	31094741	+	Frame_Shift_Del	DEL	CT	CT	-																															tttcatggcatcagcaacaaCtctgaattcggcagcatcat																										TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:31094740_31094741delCT	ENST00000318217.5	-	7	1048_1049	c.744_745delAG	c.(742-747)agttfs	p.RV248fs	MYO1D_ENST00000583621.1_Frame_Shift_Del_p.RV248fs|MYO1D_ENST00000394649.4_Frame_Shift_Del_p.RV160fs|MYO1D_ENST00000579584.1_Frame_Shift_Del_p.RV248fs	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	248	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCAGCAACAACTCTGAATTCGG	0.381													18	26	---	---	---	---					-	31094741	CT	-	31094740	7	5	268	1	0	1	0	1	0	0	0	0	10141	565	20	0	2339	0	MYO1D	17	31094740	Frame_Shift_Del	DEL	CT	TCGA-CV-6959-01A-11D-1912-08	23515350	31094740	50100470	55	47772											
LHX1	3975	broad.mit.edu	37	chr17	35299527	35299527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaccggcgctccaaggagCggaggatgaagcagctgagc	12	3	16	10	3	0	3	0	2	0	1	1	6	1	6	2	4	5	3	2	4	3	0			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:35299527C>T	ENST00000254457.5	+	4	2117	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	236					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CTCCAAGGAGCGGAGGATGAA	0.741													4	28					0	0	0	0	T	35299527	C	T	35299527	3	4	268	1	0	0	0	0	1	0	0	0	8824	759	27	1	720	1	LHX1	17	35299527	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08	4204787	35299527	45895683	56	47773											
NOL4	8715	broad.mit.edu	37	chr18	31673461	31673461	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaagattctggggacttTgcattctttcttcaagattg	9	16	9	7	0	4	3	1	1	3	2	4	4	4	4	0	2	1	1	0	2	2	6			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr18:31673461T>C	ENST00000261592.5	-	5	1037	c.740A>G	c.(739-741)cAa>cGa	p.Q247R	NOL4_ENST00000538587.1_Missense_Mutation_p.Q173R|NOL4_ENST00000589544.1_Missense_Mutation_p.Q247R|NOL4_ENST00000535475.1_Missense_Mutation_p.Q92R|NOL4_ENST00000269185.4_Missense_Mutation_p.Q133R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	247						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTGGGGACTTTGCATTCTTTC	0.383													12	79					0	0	0	0	C	31673461	T	C	31673461	3	2	268	1	0	0	0	0	1	0	0	0	10594	1812	63	5	1204	5	NOL4	18	31673461	Missense_Mutation	SNP	T	TCGA-CV-6959-01A-11D-1912-08		31673461	46403787	57	47774											
SERPINB8	5271	broad.mit.edu	37	chr18	61649018	61649018	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagttgtcctttgctgaaGacactgaagagtgcaggaag	12	9	14	6	0	0	4	0	2	0	2	1	6	1	6	1	2	2	3	1	2	3	2			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr18:61649018G>C	ENST00000397985.2	+	4	626	c.370G>C	c.(370-372)Gac>Cac	p.D124H	SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.D124H|SERPINB8_ENST00000397988.3_Missense_Mutation_p.D124H	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	124					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CTTTGCTGAAGACACTGAAGA	0.413													42	71					0	0	0	0	C	61649018	G	C	61649018	3	2	268	1	0	0	0	0	1	0	0	0	14194	942	33	2	380	2	SERPINB8	18	61649018	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	29975557	61649018	16428230	58	47775											
RFX2	5990	broad.mit.edu	37	chr19	6040054	6040054	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgctgtccatccccccgtgGatgagataggctcccgcgct	5	9	12	15	3	0	1	0	1	0	1	3	3	3	2	5	2	1	3	5	2	1	1			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:6040054G>T	ENST00000303657.5	-	5	608	c.459C>A	c.(457-459)atC>atA	p.I153I	RFX2_ENST00000359161.3_Silent_p.I153I|RFX2_ENST00000592546.1_Silent_p.I153I	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCCCCCCGTGGATGAGATAGG	0.677													3	21					0.004672	0.00594094	1	0	T	6040054	G	T	6040054	2	4	268	1	0	0	0	0	0	0	0	1	13345	1164	41	2		2	RFX2	19	6040054	Silent	SNP	G	TCGA-CV-6959-01A-11D-1912-08		6040054	53088929	59	47776											
MUC16	94025	broad.mit.edu	37	chr19	9061827	9061828	+	Frame_Shift_Del	DEL	AT	AT	-																															catctccaggagttctactcAtaagagtggtcatctctgag																										TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:9061827_9061828delAT	ENST00000397910.4	-	3	25821_25822	c.25618_25619delAT	c.(25618-25620)gfs	p.M8540fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8542	Ser-rich.|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						AGTTCTACTCATAAGAGTGGTC	0.52													16	73	---	---	---	---					-	9061828	AT	-	9061827	7	5	268	1	0	1	0	1	0	0	0	0	10043	217	8	0	18232	0	MUC16	19	9061827	Frame_Shift_Del	DEL	AT	TCGA-CV-6959-01A-11D-1912-08	3021773	9061827	50067156	60	47777											
ZNF560	147741	broad.mit.edu	37	chr19	9583928	9583928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgacactgggtttaaagagCtgaaatcctttacatgaaga	15	11	9	6	0	0	5	0	3	0	2	1	5	1	5	1	1	2	2	1	1	5	4	rs138007443		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:9583928C>A	ENST00000301480.4	-	5	378	c.165G>T	c.(163-165)caG>caT	p.Q55H		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	55	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTTAAAGAGCTGAAATCCTT	0.458													29	149					4.22769e-11	6.22075e-11	1	0	A	9583928	C	A	9583928	3	1	268	1	0	0	0	0	1	0	0	0	18086	796	28	4	2231	4	ZNF560	19	9583928	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08	522101	9583928	49545055	61	47778											
CPAMD8	27151	broad.mit.edu	37	chr19	17056415	17056415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggggaccctcctgtcggCgtgattctcctcagggtgtt	4	12	14	11	2	2	1	1	1	1	0	5	3	3	2	3	4	0	1	3	4	0	2			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:17056415C>T	ENST00000443236.1	-	22	2909	c.2878G>A	c.(2878-2880)Gcc>Acc	p.A960T		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	913						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTCCTGTCGGCGTGATTCTCC	0.567													19	92					0	0	0	0	T	17056415	C	T	17056415	3	4	268	1	0	0	0	0	1	0	0	0	3825	768	27	1	3004	1	CPAMD8	19	17056415	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08	7472487	17056415	42072568	62	47779											
SBSN	374897	broad.mit.edu	37	chr19	36017775	36017775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgctttgtctgcttccttcCcggcctgttcaagggtatgg	3	14	11	13	2	2	0	1	0	1	0	4	0	4	0	4	3	1	4	4	3	2	5			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:36017775C>T	ENST00000452271.2	-	1	1437	c.1409G>A	c.(1408-1410)gGg>gAg	p.G470E	SBSN_ENST00000518157.1_Missense_Mutation_p.G127E	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	127						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTTCCTTCCCGGCCTGTTC	0.597													7	20					0	0	0	0	T	36017775	C	T	36017775	3	4	268	1	0	0	0	0	1	0	0	0	13950	623	22	4	379	4	SBSN	19	36017775	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08	18961360	36017775	23111208	63	47780											
SIPA1L3	23094	broad.mit.edu	37	chr19	38655170	38655170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaacaccctctccagcaacGcatccagcagccacagcgac	12	3	7	19	2	1	0	0	0	1	0	3	1	2	0	4	0	6	4	4	0	2	0			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:38655170G>A	ENST00000222345.6	+	15	4341	c.3832G>A	c.(3832-3834)Gca>Aca	p.A1278T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1278					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCAGCAACGCATCCAGCAG	0.617													26	56					0	0	0	0	A	38655170	G	A	38655170	3	1	268	1	0	0	0	0	1	0	0	0	14419	1087	38	1	3882	1	SIPA1L3	19	38655170	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08	2637395	38655170	20473813	64	47781											
PPFIA3	8541	broad.mit.edu	37	chr19	49640003	49640003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggagcggtctgcccctgCgggctccataccacccccat	5	8	11	17	2	1	0	0	0	1	0	2	1	2	1	6	3	4	1	6	3	1	2			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:49640003C>T	ENST00000334186.4	+	15	2037	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	PPFIA3_ENST00000602351.1_Missense_Mutation_p.A563V	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	563			A -> S (in dbSNP:rs2303053).			cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCTGCCCCTGCGGGCTCCATA	0.652													6	8					0	0	0	0	T	49640003	C	T	49640003	3	4	268	1	0	0	0	0	1	0	0	0	12382	768	27	1	1742	1	PPFIA3	19	49640003	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08	10984833	49640003	9488980	65	47782											
EIF2S2	8894	broad.mit.edu	37	chr20	32693175	32693175	+	Splice_Site	DEL	T	T	-																															tctcacatcaaccacgcaccTtttttcctagtgtcctcttc																										TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr20:32693175delT	ENST00000374980.2	-	2	413	c.193_splice	c.e2+1	p.K64_splice		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	64						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						ACCACGCACCTTTTTTCCTAG	0.483													7	1120	---	---	---	---					-	32693175	T	-	32693175	8	5	268	1	0	1	0	1	0	0	1	0	5046	1623	56	0	841	0	EIF2S2	20	32693175	Splice_Site	DEL	T	TCGA-CV-6959-01A-11D-1912-08		32693175	30332345	66	47783											
FAM83C	128876	broad.mit.edu	37	chr20	33876323	33876323	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgaacttctccagggcctgCcccgtgaagcggcggccagc	7	5	13	16	4	1	1	0	1	1	0	2	2	1	1	5	3	4	0	5	3	2	1			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr20:33876323C>T	ENST00000374408.3	-	3	843	c.747G>A	c.(745-747)ggG>ggA	p.G249G		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	249										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCAGGGCCTGCCCCGTGAAGC	0.622													19	463					0	0	0	0	T	33876323	C	T	33876323	2	4	268	1	0	0	0	0	0	0	0	1	5681	726	26	4		4	FAM83C	20	33876323	Silent	SNP	C	TCGA-CV-6959-01A-11D-1912-08	1183148	33876323	29149197	67	47784											
SFI1	9814	broad.mit.edu	37	chr22	32003955	32003955	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcgggaagctgtgtcagtGcagatgtattaccgacagca	10	9	14	8	2	1	1	1	0	0	1	1	3	1	2	1	2	4	4	1	2	3	2			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr22:32003955G>C	ENST00000432498.1	+	21	2490	c.2097G>C	c.(2095-2097)gtG>gtC	p.V699V	SFI1_ENST00000540643.1_Silent_p.V675V|SFI1_ENST00000443326.1_Silent_p.V648V|SFI1_ENST00000443011.1_Silent_p.V577V|SFI1_ENST00000414585.1_Silent_p.V577V|SFI1_ENST00000400288.2_Silent_p.V730V|SFI1_ENST00000400289.1_Silent_p.V648V	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	730					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						CTGTGTCAGTGCAGATGTATT	0.592													7	47					0	0	0	0	C	32003955	G	C	32003955	2	2	268	1	0	0	0	0	0	0	0	1	14243	1306	46	4		4	SFI1	22	32003955	Silent	SNP	G	TCGA-CV-6959-01A-11D-1912-08		32003955	19300611	68	47785											
FAM47A	158724	broad.mit.edu	37	chrX	34149633	34149633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggagactggatctccgacGagtgatgggaggccccgggc	8	6	17	10	3	1	2	0	1	1	1	2	7	1	4	3	5	0	0	3	5	1	1			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:34149633G>A	ENST00000346193.3	-	1	814	c.763C>T	c.(763-765)Cgt>Tgt	p.R255C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	255										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GATCTCCGACGAGTGATGGGA	0.622													8	17					0	0	0	0	A	34149633	G	A	34149633	3	1	268	1	0	0	0	0	1	0	0	0	5616	1058	37	1	1616	1	FAM47A	23	34149633	Missense_Mutation	SNP	G	TCGA-CV-6959-01A-11D-1912-08		34149633	121120927	69	47786											
FAM155B	27112	broad.mit.edu	37	chrX	68725656	68725656	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctttcccgtgccccggcCgagttcccctccgccaaaaa	6	8	7	20	4	0	0	0	0	0	0	4	1	4	0	9	1	1	1	9	1	2	2	rs142803076	byFrequency	TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:68725656C>A	ENST00000252338.4	+	1	573	c.531C>A	c.(529-531)gcC>gcA	p.A177A		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	177						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GTGCCCCGGCCGAGTTCCCCT	0.577													19	40					0.006122	0.00768984	1	0	A	68725656	C	A	68725656	2	1	268	1	0	0	0	0	0	0	0	1	5507	639	23	3		3	FAM155B	23	68725656	Silent	SNP	C	TCGA-CV-6959-01A-11D-1912-08	34576023	68725656	86544904	70	47787											
PCDH19	57526	broad.mit.edu	37	chrX	99662705	99662705	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcgccagtgacagtgacCaggccactgtgcgggtcgat	10	6	14	11	3	0	2	0	2	0	0	1	3	0	2	3	2	2	0	3	2	1	0			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:99662705C>A	ENST00000373034.4	-	1	2566	c.891G>T	c.(889-891)ctG>ctT	p.L297L	PCDH19_ENST00000255531.7_Silent_p.L297L|PCDH19_ENST00000420881.2_Silent_p.L297L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	297	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGACAGTGACCAGGCCACTGT	0.597													43	44					9.39024e-22	1.48799e-21	1	0	A	99662705	C	A	99662705	2	1	268	1	0	0	0	0	0	0	0	1	11585	581	21	4		4	PCDH19	23	99662705	Silent	SNP	C	TCGA-CV-6959-01A-11D-1912-08	30937049	99662705	55607855	71	47788											
ATP2B3	492	broad.mit.edu	37	chrX	152808591	152808591	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcttcacgctgcttggagCtggcggagaggaggaagaga	10	7	16	8	2	2	2	1	0	1	2	2	7	2	5	0	5	2	3	0	5	1	2			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:152808591C>G	ENST00000370186.1	+	6	1207	c.881C>G	c.(880-882)gCt>gGt	p.A294G	ATP2B3_ENST00000393842.1_Missense_Mutation_p.A294G|ATP2B3_ENST00000370181.2_Missense_Mutation_p.A294G|ATP2B3_ENST00000359149.3_Missense_Mutation_p.A294G|ATP2B3_ENST00000349466.2_Missense_Mutation_p.A294G|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A294G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	294					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTTGGAGCTGGCGGAGAG	0.572													26	49					0	0	0	0	G	152808591	C	G	152808591	3	3	268	1	0	0	0	0	1	0	0	0	1145	797	28	4	899	4	ATP2B3	23	152808591	Missense_Mutation	SNP	C	TCGA-CV-6959-01A-11D-1912-08	53145886	152808591	2461969	72	47789											
IDH3G	3421	broad.mit.edu	37	chrX	153059758	153059758	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccttcgcggcgctgccggcGacggtcgctaccttcagcgc	3	7	14	17	8	1	0	1	0	0	0	3	1	1	0	3	3	3	2	3	3	1	3			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	dce738e5-e89f-49f0-aba7-710755af0c70	g.chrX:153059758G>A	ENST00000370092.3	-	1	209	c.24C>T	c.(22-24)gtC>gtT	p.V8V	SSR4_ENST00000370087.1_5'UTR|IDH3G_ENST00000497043.1_5'UTR|SSR4_ENST00000320857.3_5'UTR|IDH3G_ENST00000217901.5_Silent_p.V8V|IDH3G_ENST00000427365.2_5'UTR|IDH3G_ENST00000370093.1_Silent_p.V8V	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	8					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CGCTGCCGGCGACGGTCGCTA	0.687													3	8					0	0	0	0	A	153059758	G	A	153059758	2	1	268	1	0	0	0	0	0	0	0	1	7551	1045	37	1		1	IDH3G	23	153059758	Silent	SNP	G	TCGA-CV-6959-01A-11D-1912-08	251167	153059758	2210802	73	47790											
CHD5	26038	broad.mit.edu	37	chr1	6172998	6172998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcggaactgtcccctctgCtgtggatcaagctcagctcc	6	11	10	14	1	3	0	2	0	1	0	6	2	5	2	3	2	4	4	3	2	2	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:6172998C>A	ENST00000262450.3	-	34	5072	c.4973G>T	c.(4972-4974)aGc>aTc	p.S1658I	CHD5_ENST00000378021.1_Missense_Mutation_p.S515I	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1658					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTCCCCTCTGCTGTGGATCAA	0.592													32	65					1.45844e-13	1.99402e-13	1	0	A	6172998	C	A	6172998	3	1	269	1	0	0	0	0	1	0	0	0	3357	797	28	4	923	4	CHD5	1	6172998	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08		6172998	243077623	1	47791											
PTCHD2	57540	broad.mit.edu	37	chr1	11562935	11562935	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcacctacgtggccatgCtggccaagcagtctaccagg	8	8	12	13	1	2	0	1	0	1	0	2	0	2	0	4	4	4	2	4	4	3	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:11562935C>T	ENST00000294484.6	+	3	1435	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	PTCHD2_ENST00000389575.3_Silent_p.L433L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	433					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.L650L(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGGCCATGCTGGCCAAGCA	0.522													3	54					0	0	0	0	T	11562935	C	T	11562935	2	4	269	1	0	0	0	0	0	0	0	1	12812	796	28	4		4	PTCHD2	1	11562935	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	5389937	11562935	237687686	2	47792											
C1orf64	149563	broad.mit.edu	37	chr1	16332707	16332707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcttccttcccagtcagcCcgctctgcccccaggaggtt	5	9	9	18	1	2	0	1	0	1	0	4	1	4	1	5	2	3	3	5	2	0	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:16332707C>T	ENST00000329454.2	+	2	444	c.376C>T	c.(376-378)Ccg>Tcg	p.P126S	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	126										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGTCAGCCCGCTCTGCCC	0.647													20	35					0	0	0	0	T	16332707	C	T	16332707	3	4	269	1	0	0	0	0	1	0	0	0	2074	623	22	4	382	4	C1orf64	1	16332707	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	4769772	16332707	232917914	3	47793											
EPHA8	2046	broad.mit.edu	37	chr1	22927549	22927549	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgctcatccgcagcccTgagagtctcagggccaccgc	7	6	12	16	3	2	1	2	1	1	1	4	3	3	1	4	1	2	2	4	1	0	0			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:22927549T>C	ENST00000166244.3	+	15	2769	c.2697T>C	c.(2695-2697)ccT>ccC	p.P899P		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	899						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCGCAGCCCTGAGAGTCTCA	0.647													3	87					0	0	0	0	C	22927549	T	C	22927549	2	2	269	1	0	0	0	0	0	0	0	1	5211	1567	55	5		5	EPHA8	1	22927549	Silent	SNP	T	TCGA-CV-6960-01A-41D-2012-08	6594842	22927549	226323072	4	47794											
NCDN	23154	broad.mit.edu	37	chr1	36028893	36028893	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccctcgcttctgtgcaaGtatttcctgcagcagtggga	6	11	11	13	1	1	0	0	0	1	0	3	1	2	1	3	1	3	5	3	1	2	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:36028893G>C	ENST00000373243.2	+	5	1859	c.1476G>C	c.(1474-1476)aaG>aaC	p.K492N	NCDN_ENST00000356090.4_Missense_Mutation_p.K492N|NCDN_ENST00000373253.3_Missense_Mutation_p.K475N	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	492					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCTGTGCAAGTATTTCCTGC	0.622													31	81					0	0	0	0	C	36028893	G	C	36028893	3	2	269	1	0	0	0	0	1	0	0	0	10284	1020	36	4	1494	4	NCDN	1	36028893	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	13101344	36028893	213221728	5	47795											
KIAA0754	643314	broad.mit.edu	37	chr1	39879476	39879476	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcagtgcccaccccagCagaatctgcctcctttgcag	7	9	9	16	0	1	1	0	0	1	1	2	1	2	1	5	0	6	4	5	0	1	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:39879476C>G	ENST00000530275.1	+	1	3326	c.3131C>G	c.(3130-3132)gCa>gGa	p.A1044G	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1044	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCACCCCAGCAGAATCTGCC	0.662													16	38					0	0	0	0	G	39879476	C	G	39879476	3	3	269	1	0	0	0	0	1	0	0	0	8243	710	25	4	3541	4	KIAA0754	1	39879476	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	3850583	39879476	209371145	6	47796											
C8A	731	broad.mit.edu	37	chr1	57341807	57341807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctgatgaggacgactGtgaagatgtcagggccattg	9	10	15	7	1	2	4	1	3	1	1	2	6	2	5	1	3	0	1	1	3	1	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:57341807G>A	ENST00000361249.3	+	4	485	c.389G>A	c.(388-390)tGt>tAt	p.C130Y		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	130	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGGACGACTGTGAAGATGTC	0.542													16	38					0	0	0	0	A	57341807	G	A	57341807	3	1	269	1	0	0	0	0	1	0	0	0	2439	1377	48	4	403	4	C8A	1	57341807	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	17462331	57341807	191908814	7	47797											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76779616	76779616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacctggtacaaagtggataCcattctcctacacatacagg	14	9	7	11	0	1	0	0	0	1	0	2	1	1	1	3	3	5	1	3	3	6	5			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:76779616C>A	ENST00000328299.3	+	2	293	c.145C>A	c.(145-147)Cca>Aca	p.P49T	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	49					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AAAGTGGATACCATTCTCCTA	0.453													32	62					2.08457e-15	2.95009e-15	1	0	A	76779616	C	A	76779616	3	1	269	1	0	0	0	0	1	0	0	0	15315	507	18	4	151	4	ST6GALNAC3	1	76779616	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	19437809	76779616	172471005	8	47798											
SYDE2	84144	broad.mit.edu	37	chr1	85647842	85647842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagaaggggcaccatcagtCctatattttctttctctaca	10	14	6	11	0	4	1	2	0	2	1	6	1	5	1	2	2	1	1	2	2	4	6			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:85647842C>T	ENST00000341460.5	-	3	2532	c.2483G>A	c.(2482-2484)gGa>gAa	p.G828E		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	828	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CACCATCAGTCCTATATTTTC	0.348													3	16					0	0	0	0	T	85647842	C	T	85647842	3	4	269	1	0	0	0	0	1	0	0	0	15527	855	30	2	1121	2	SYDE2	1	85647842	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	8868226	85647842	163602779	9	47799											
COL11A1	1301	broad.mit.edu	37	chr1	103354187	103354187	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttctggccagcgggtccCtgttagaaagaagagagagg	10	8	14	9	1	1	4	0	0	1	4	2	5	2	4	3	3	1	1	3	3	3	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:103354187C>A	ENST00000358392.2	-	62	4908		c.e62-1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGCGGGTCCCTGTTAGAAAG	0.423													14	41					1.3612e-06	1.54653e-06	1	0	A	103354187	C	A	103354187	5	1	269	1	0	0	0	0	0	0	1	0	3697	695	24	4	890	4	COL11A1	1	103354187	Splice_Site	SNP	C	TCGA-CV-6960-01A-41D-2012-08	17706345	103354187	145896434	10	47800											
COL11A1	1301	broad.mit.edu	37	chr1	103471395	103471395	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatagatgtatcttaccCtgtgacctttgtcacctggc	9	13	9	10	0	2	2	1	1	1	1	2	3	2	3	3	2	1	1	3	2	4	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:103471395C>A	ENST00000358392.2	-	18	2197	c.1881_splice	c.e18+1	p.R627_splice	COL11A1_ENST00000353414.4_Splice_Site_p.R576_splice|COL11A1_ENST00000370096.3_Splice_Site_p.R615_splice|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Splice_Site_p.R499_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	615	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTATCTTACCCTGTGACCTTT	0.343													26	64					2.12542e-12	2.84172e-12	1	0	A	103471395	C	A	103471395	5	1	269	1	0	0	0	0	0	0	1	0	3697	695	24	4	3776	4	COL11A1	1	103471395	Splice_Site	SNP	C	TCGA-CV-6960-01A-41D-2012-08	117208	103471395	145779226	11	47801											
TMEM79	84283	broad.mit.edu	37	chr1	156261302	156261302	+	Frame_Shift_Del	DEL	G	G	-																															atgttcgtggtggagccggaGcgcatgctcactgccaccga																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:156261302delG	ENST00000405535.2	+	4	1269	c.1098delG	c.(1096-1098)gafs	p.E366fs	TMEM79_ENST00000357501.2_Frame_Shift_Del_p.A128fs|TMEM79_ENST00000295694.5_Frame_Shift_Del_p.E366fs|TMEM79_ENST00000495881.1_3'UTR|C1orf85_ENST00000472870.1_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	366						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGGAGCCGGAGCGCATGCTCA	0.672													52	142	---	---	---	---					-	156261302	G	-	156261302	7	5	269	1	0	1	0	1	0	0	0	0	16297	962	34	0	1108	0	TMEM79	1	156261302	Frame_Shift_Del	DEL	G	TCGA-CV-6960-01A-41D-2012-08	52789907	156261302	92989319	12	47802											
KCNT2	343450	broad.mit.edu	37	chr1	196295982	196295982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagtttatttttgaatccaTaggcttttgcatcctcatag	9	19	6	7	0	1	1	1	1	0	0	3	1	3	1	2	1	1	3	2	1	5	9			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:196295982T>C	ENST00000367433.5	-	19	2242	c.2141A>G	c.(2140-2142)tAt>tGt	p.Y714C	KCNT2_ENST00000451324.2_Missense_Mutation_p.Y325C|KCNT2_ENST00000294725.8_Missense_Mutation_p.Y714C|KCNT2_ENST00000367431.4_Missense_Mutation_p.Y664C|KCNT2_ENST00000498426.1_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	714						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTGAATCCATAGGCTTTTGC	0.318													22	55					0	0	0	0	C	196295982	T	C	196295982	3	2	269	1	0	0	0	0	1	0	0	0	8145	1406	49	5	1306	5	KCNT2	1	196295982	Missense_Mutation	SNP	T	TCGA-CV-6960-01A-41D-2012-08	40034680	196295982	52954639	13	47803											
TGFB2	7042	broad.mit.edu	37	chr1	218614596	218614596	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagcatctgcttctccttgCtgcgtgtcccaagatttaga	8	13	9	11	1	2	2	0	0	2	2	4	3	3	2	2	0	4	3	2	0	3	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:218614596C>A	ENST00000366929.4	+	8	1688	c.1221C>A	c.(1219-1221)tgC>tgA	p.C407*	TGFB2_ENST00000366930.4_Nonsense_Mutation_p.C379*|TGFB2_ENST00000479322.1_3'UTR	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	379					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CTTCTCCTTGCTGCGTGTCCC	0.403													28	59					4.87955e-14	6.70939e-14	1	0	A	218614596	C	A	218614596	4	1	269	1	0	0	0	0	0	1	0	0	15912	805	28	4	1251	4	TGFB2	1	218614596	Nonsense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	22318614	218614596	30636025	14	47804											
RYR2	6262	broad.mit.edu	37	chr1	237838057	237838057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggacctggaactggacaCgccttctattgagaaacgat	13	9	10	9	2	1	1	0	1	1	1	1	6	1	4	2	3	2	0	2	3	4	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:237838057C>A	ENST00000366574.2	+	60	9058	c.8741C>A	c.(8740-8742)aCg>aAg	p.T2914K	RYR2_ENST00000360064.6_Missense_Mutation_p.T2912K|RYR2_ENST00000542537.1_Missense_Mutation_p.T2898K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2914	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACTGGACACGCCTTCTATT	0.408													5	16					0.00116845	0.00122941	1	0	A	237838057	C	A	237838057	3	1	269	1	0	0	0	0	1	0	0	0	13854	536	19	3	8979	3	RYR2	1	237838057	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	19223461	237838057	11412564	15	47805											
RNASEH1	246243	broad.mit.edu	37	chr2	3598055	3598055	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcagtgtagacgacgacGaagtctcctgtgggaaaagg	12	7	13	9	3	2	1	1	0	1	1	3	5	2	2	2	2	0	1	2	2	4	1	rs139176330		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:3598055G>A	ENST00000315212.3	-	4	772	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	139	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		AGACGACGACGAAGTCTCCTG	0.493													4	123					0	0	0	0	A	3598055	G	A	3598055	2	1	269	1	0	0	0	0	0	0	0	1	13496	1049	37	1		1	RNASEH1	2	3598055	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08		3598055	239601318	16	47806											
VIT	5212	broad.mit.edu	37	chr2	37035846	37035846	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaacctcaccaaagagtttGagatttccgacacggacacg	13	7	8	13	3	1	2	1	1	0	2	2	5	2	3	4	1	1	1	4	1	2	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:37035846G>C	ENST00000379242.3	+	15	1923	c.1621G>C	c.(1621-1623)Gag>Cag	p.E541Q	VIT_ENST00000497382.1_Missense_Mutation_p.E195Q|VIT_ENST00000379241.3_Missense_Mutation_p.E504Q|VIT_ENST00000401530.1_Missense_Mutation_p.E505Q|VIT_ENST00000404084.1_Missense_Mutation_p.E478Q|VIT_ENST00000389975.3_Missense_Mutation_p.E526Q	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	526	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CAAAGAGTTTGAGATTTCCGA	0.582													26	52					0	0	0	0	C	37035846	G	C	37035846	3	2	269	1	0	0	0	0	1	0	0	0	17267	1291	45	2	1800	2	VIT	2	37035846	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	33437791	37035846	206163527	17	47807											
HEATR5B	54497	broad.mit.edu	37	chr2	37232867	37232867	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgttcaatgggctcctCaggtctaggggaacaaagaa	14	8	11	8	0	3	1	2	0	1	1	4	2	4	2	1	4	2	2	1	4	6	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:37232867C>A	ENST00000233099.5	-	30	4908	c.4813G>T	c.(4813-4815)Gag>Tag	p.E1605*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.E1605*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1605							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATGGGCTCCTCAGGTCTAGGG	0.408													15	30					0.000308642	0.000329037	1	0	A	37232867	C	A	37232867	4	1	269	1	0	0	0	0	0	1	0	0	7082	835	29	2	1430	2	HEATR5B	2	37232867	Nonsense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	197021	37232867	205966506	18	47808											
ZFP36L2	678	broad.mit.edu	37	chr2	43451842	43451842	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgaggctgctgagctcCggaccgaaggcgaaggcgtt	8	7	17	9	4	0	3	0	3	0	0	1	6	1	4	2	4	2	4	2	4	2	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:43451842C>A	ENST00000282388.3	-	2	1394	c.1101G>T	c.(1099-1101)ccG>ccT	p.P367P	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	367					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGCTGAGCTCCGGACCGAAGG	0.726													9	16					0.00621372	0.00639881	1	0	A	43451842	C	A	43451842	2	1	269	1	0	0	0	0	0	0	0	1	17742	639	23	3		3	ZFP36L2	2	43451842	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	6218975	43451842	199747531	19	47809											
EIF2AK3	9451	broad.mit.edu	37	chr2	88874652	88874652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacaaagttcaaaggaGtgcccctcatcattgccatc	13	8	9	11	0	3	0	3	0	0	0	4	3	3	2	3	2	2	1	3	2	3	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:88874652G>A	ENST00000303236.3	-	13	2650	c.2349C>T	c.(2347-2349)caC>caT	p.H783H	EIF2AK3_ENST00000419748.1_Silent_p.H632H|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_Intron	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	783	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GTTCAAAGGAGTGCCCCTCAT	0.453													109	204					0	0	0	0	A	88874652	G	A	88874652	2	1	269	1	0	0	0	0	0	0	0	1	5034	1020	36	4		4	EIF2AK3	2	88874652	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08	45422810	88874652	154324721	20	47810											
CNGA3	1261	broad.mit.edu	37	chr2	99012576	99012576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacattctcatcatcatcCactggaatgcctgcatctac	10	13	5	13	0	4	0	3	0	2	0	6	1	5	1	2	1	4	2	2	1	3	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:99012576C>A	ENST00000393504.1	+	8	1360	c.943C>A	c.(943-945)Cac>Aac	p.H315N	CNGA3_ENST00000436404.2_Missense_Mutation_p.H297N|CNGA3_ENST00000409937.1_Missense_Mutation_p.H319N|CNGA3_ENST00000272602.2_Missense_Mutation_p.H315N	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	315					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CATCATCATCCACTGGAATGC	0.478													89	88					7.2861e-57	1.16002e-56	1	0	A	99012576	C	A	99012576	3	1	269	1	0	0	0	0	1	0	0	0	3628	594	21	4	969	4	CNGA3	2	99012576	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	10137924	99012576	144186797	21	47811											
MAP4K4	9448	broad.mit.edu	37	chr2	102475479	102475479	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtatatcaggcgacagctaGaagaggagcagcggcacttg	13	6	14	8	2	1	2	1	0	0	2	1	4	1	3	0	3	3	4	0	3	4	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:102475479G>C	ENST00000413150.2	+	14	1472	c.1417G>C	c.(1417-1419)Gaa>Caa	p.E473Q	MAP4K4_ENST00000324219.4_Missense_Mutation_p.E473Q|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E453Q|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E473Q|MAP4K4_ENST00000350198.4_Missense_Mutation_p.E473Q|MAP4K4_ENST00000456652.1_Missense_Mutation_p.E326Q|MAP4K4_ENST00000302217.5_Missense_Mutation_p.E326Q|MAP4K4_ENST00000347699.4_Missense_Mutation_p.E473Q	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	473					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCGACAGCTAGAAGAGGAGCA	0.502													27	165					0	0	0	0	C	102475479	G	C	102475479	3	2	269	1	0	0	0	0	1	0	0	0	9331	943	33	2	1471	2	MAP4K4	2	102475479	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	3462903	102475479	140723894	22	47812											
IL1A	3552	broad.mit.edu	37	chr2	113535595	113535595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggttggtcttcatcttggGcagtcacatacaattgagtt	8	15	10	8	0	4	1	2	1	2	0	4	1	4	1	0	3	1	3	0	3	2	6			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:113535595G>A	ENST00000263339.3	-	6	739	c.584C>T	c.(583-585)gCc>gTc	p.A195V		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	195					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TTCATCTTGGGCAGTCACATA	0.388													14	58					0	0	0	0	A	113535595	G	A	113535595	3	1	269	1	0	0	0	0	1	0	0	0	7703	1203	42	4	239	4	IL1A	2	113535595	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	11060116	113535595	129663778	23	47813											
ZRANB3	84083	broad.mit.edu	37	chr2	136107559	136107559	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggattgtaatacctcttCaggccttcctaaagctggtg	10	13	9	9	0	2	0	1	0	1	0	3	1	3	1	3	3	2	2	3	3	5	7			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:136107559C>A	ENST00000401392.1	-	5	798	c.586G>T	c.(586-588)Gaa>Taa	p.E196*	ZRANB3_ENST00000536680.1_Nonsense_Mutation_p.E196*|ZRANB3_ENST00000264159.6_Nonsense_Mutation_p.E196*			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	196	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AATACCTCTTCAGGCCTTCCT	0.408													11	36					4.3838e-07	5.05181e-07	1	0	A	136107559	C	A	136107559	4	1	269	1	0	0	0	0	0	1	0	0	18317	835	29	2	2721	2	ZRANB3	2	136107559	Nonsense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	22571964	136107559	107091814	24	47814											
MBD5	55777	broad.mit.edu	37	chr2	149247953	149247953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttaatgggtgtgtgcctagCccttcagatgctaaaagcat	10	12	11	8	0	1	1	1	0	0	1	1	1	1	1	2	1	4	3	2	1	4	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:149247953C>A	ENST00000407073.1	+	12	5050	c.4053C>A	c.(4051-4053)agC>agA	p.S1351R	MBD5_ENST00000404807.1_Missense_Mutation_p.S1584R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1351						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTGTGCCTAGCCCTTCAGATG	0.408													21	47					1.01871e-10	1.29752e-10	1	0	A	149247953	C	A	149247953	3	1	269	1	0	0	0	0	1	0	0	0	9416	738	26	4	4079	4	MBD5	2	149247953	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	13140394	149247953	93951420	25	47815											
SLC4A10	57282	broad.mit.edu	37	chr2	162751316	162751316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcattcgaatagagcctcCcaaaaatgttccttcccagg	13	9	7	12	1	0	1	0	0	0	1	4	2	3	1	4	1	2	2	4	1	5	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:162751316C>G	ENST00000375514.5	+	11	1552	c.1265C>G	c.(1264-1266)cCc>cGc	p.P422R	SLC4A10_ENST00000421911.1_Missense_Mutation_p.P441R|SLC4A10_ENST00000415876.2_Missense_Mutation_p.P411R|SLC4A10_ENST00000446997.1_Missense_Mutation_p.P441R|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.P411R|SLC4A10_ENST00000493021.1_3'UTR	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	441					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATAGAGCCTCCCAAAAATGTT	0.328													18	57					0	0	0	0	G	162751316	C	G	162751316	3	3	269	1	0	0	0	0	1	0	0	0	14739	623	22	4	1449	4	SLC4A10	2	162751316	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	13503363	162751316	80448057	26	47816											
G6PC2	57818	broad.mit.edu	37	chr2	169764237	169764237	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgtggtccgtgcccatagCcaaaaagtggtgtgctaacc	9	9	12	11	1	0	0	0	0	0	0	1	0	1	0	4	2	4	2	4	2	4	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:169764237C>A	ENST00000375363.3	+	5	808	c.716C>A	c.(715-717)gCc>gAc	p.A239D	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_3'UTR|G6PC2_ENST00000429379.2_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	239					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GTGCCCATAGCCAAAAAGTGG	0.512													30	59					8.16721e-17	1.19064e-16	1	0	A	169764237	C	A	169764237	3	1	269	1	0	0	0	0	1	0	0	0	6192	739	26	4	734	4	G6PC2	2	169764237	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	7012921	169764237	73435136	27	47817											
LRP2	4036	broad.mit.edu	37	chr2	170129512	170129512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacccaaaccatcattatCtgttctgtggctgaggacac	12	10	8	11	0	3	1	1	1	2	0	3	3	3	2	2	2	2	2	2	2	3	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:170129512C>A	ENST00000263816.3	-	15	2326	c.2041G>T	c.(2041-2043)Gat>Tat	p.D681Y	LRP2_ENST00000443831.1_Missense_Mutation_p.D612Y	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	681	EGF-like 3.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCATCATTATCTGTTCTGTGG	0.463													48	116					8.00217e-19	1.18805e-18	1	0	A	170129512	C	A	170129512	3	1	269	1	0	0	0	0	1	0	0	0	9020	913	32	2	12186	2	LRP2	2	170129512	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	365275	170129512	73069861	28	47818											
MYO3B	140469	broad.mit.edu	37	chr2	171259494	171259494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttcaatcagcatgtttttGctcttgagcaggtaatagtg	10	16	9	6	0	3	1	2	1	1	0	3	1	3	1	0	1	3	5	0	1	3	6			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:171259494G>A	ENST00000334231.6	+	19	2293	c.2293G>A	c.(2293-2295)Gct>Act	p.A765T	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.A756T|MYO3B_ENST00000409044.3_Missense_Mutation_p.A756T			Q8WXR4	MYO3B_HUMAN	myosin IIIB	756	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCATGTTTTTGCTCTTGAGCA	0.398													5	31					0	0	0	0	A	171259494	G	A	171259494	3	1	269	1	0	0	0	0	1	0	0	0	10147	1319	46	4	2340	4	MYO3B	2	171259494	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	1129982	171259494	71939879	29	47819											
ZNF385B	151126	broad.mit.edu	37	chr2	180409678	180409678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacaagagcaggaagggtaGtagtgtggcatgtactgcct	11	8	15	7	0	0	1	0	0	0	1	0	2	0	2	1	3	3	6	1	3	5	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:180409678G>A	ENST00000410066.1	-	4	875	c.272C>T	c.(271-273)aCt>aTt	p.T91I	ZNF385B_ENST00000409692.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.T15I|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	91						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AGGAAGGGTAGTAGTGTGGCA	0.448													37	88					0	0	0	0	A	180409678	G	A	180409678	3	1	269	1	0	0	0	0	1	0	0	0	17972	1029	36	4	1171	4	ZNF385B	2	180409678	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	9150184	180409678	62789695	30	47820											
ITGA4	3676	broad.mit.edu	37	chr2	182395331	182395331	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagagtgcaatgcagaccttGaaaggcatagtccggttctt	12	10	11	8	1	1	3	0	1	1	2	2	3	2	3	2	2	2	4	2	2	4	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:182395331G>C	ENST00000397033.2	+	24	3049	c.2619G>C	c.(2617-2619)ttG>ttC	p.L873F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	873					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGCAGACCTTGAAAGGCATAG	0.413													23	48					0	0	0	0	C	182395331	G	C	182395331	3	2	269	1	0	0	0	0	1	0	0	0	7931	1281	45	2	2713	2	ITGA4	2	182395331	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	1985653	182395331	60804042	31	47821											
COL3A1	1281	broad.mit.edu	37	chr2	189849935	189849935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttattagcctactcgccctCctaatggtcaaggacctcaa	10	12	6	13	1	2	0	2	0	0	0	4	1	3	1	4	2	2	0	4	2	6	5			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:189849935C>A	ENST00000304636.3	+	3	465	c.295C>A	c.(295-297)Cct>Act	p.P99T	COL3A1_ENST00000317840.5_Missense_Mutation_p.P99T	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	99					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TACTCGCCCTCCTAATGGTCA	0.343													22	36					6.32553e-13	8.55183e-13	1	0	A	189849935	C	A	189849935	3	1	269	1	0	0	0	0	1	0	0	0	3718	855	30	2	305	2	COL3A1	2	189849935	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	7454604	189849935	53349438	32	47822											
GTF3C3	9330	broad.mit.edu	37	chr2	197640813	197640813	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaaacaacagagtagaaCgatgaagcaataacttcagt	19	7	9	6	1	1	4	1	2	0	2	1	5	1	4	0	0	5	2	0	0	8	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:197640813C>G	ENST00000263956.3	-	12	1705	c.1616G>C	c.(1615-1617)cGt>cCt	p.R539P		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	539						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CAGAGTAGAACGATGAAGCAA	0.323													23	51					0	0	0	0	G	197640813	C	G	197640813	3	3	269	1	0	0	0	0	1	0	0	0	6924	536	19	3	1072	3	GTF3C3	2	197640813	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	7790878	197640813	45558560	33	47823											
ABI2	10152	broad.mit.edu	37	chr2	204255845	204255845	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccccctagtccccctaTgtcagggaaagggacacttg	10	7	11	13	0	1	0	1	0	0	0	2	3	2	2	4	2	1	0	4	2	4	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:204255845T>A	ENST00000295851.4	+	5	853	c.557T>A	c.(556-558)aTg>aAg	p.M186K	ABI2_ENST00000424558.1_Missense_Mutation_p.M180K|ABI2_ENST00000261018.7_Missense_Mutation_p.M21K|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261016.6_Missense_Mutation_p.M135K|ABI2_ENST00000261017.5_Missense_Mutation_p.M180K|ABI2_ENST00000422511.2_Missense_Mutation_p.M186K|ABI2_ENST00000430418.1_Missense_Mutation_p.M180K			Q9NYB9	ABI2_HUMAN	abl-interactor 2	186	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						AGTCCCCCTATGTCAGGGAAA	0.388													5	22					0	0	0	0	A	204255845	T	A	204255845	3	1	269	1	0	0	0	0	1	0	0	0	89	1464	51	5	553	5	ABI2	2	204255845	Missense_Mutation	SNP	T	TCGA-CV-6960-01A-41D-2012-08	6615032	204255845	38943528	34	47824											
ERBB4	2066	broad.mit.edu	37	chr2	212530075	212530075	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtttggatggcatgggTggcactcccgatctggatca	7	11	14	9	1	2	0	1	0	1	0	3	3	3	2	1	5	1	4	1	5	0	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:212530075T>A	ENST00000342788.4	-	15	2154	c.1844A>T	c.(1843-1845)cAc>cTc	p.H615L	ERBB4_ENST00000402597.1_Missense_Mutation_p.H615L|ERBB4_ENST00000436443.1_Missense_Mutation_p.H615L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	615	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATGGCATGGGTGGCACTCCCG	0.473										TSP Lung(8;0.080)			14	43					0	0	0	0	A	212530075	T	A	212530075	3	1	269	1	0	0	0	0	1	0	0	0	5247	1696	59	5	2138	5	ERBB4	2	212530075	Missense_Mutation	SNP	T	TCGA-CV-6960-01A-41D-2012-08	8274230	212530075	30669298	35	47825											
SPAG16	79582	broad.mit.edu	37	chr2	214794821	214794821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcctgcggcaattttgTggcttcctcctcactggata	6	13	9	13	1	1	0	1	0	0	0	4	1	4	1	3	3	1	3	3	3	2	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:214794821T>C	ENST00000331683.5	+	12	1447	c.1352T>C	c.(1351-1353)gTg>gCg	p.V451A	SPAG16_ENST00000374309.3_Missense_Mutation_p.V357A	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	451					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GGCAATTTTGTGGCTTCCTCC	0.423													28	41					0	0	0	0	C	214794821	T	C	214794821	3	2	269	1	0	0	0	0	1	0	0	0	15068	1696	59	5	1414	5	SPAG16	2	214794821	Missense_Mutation	SNP	T	TCGA-CV-6960-01A-41D-2012-08	2264746	214794821	28404552	36	47826											
CUL3	8452	broad.mit.edu	37	chr2	225368493	225368493	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttgcataaacctaaaaAggaccattgctttatccaat	14	14	4	9	0	1	0	0	0	1	0	2	1	2	1	3	1	3	2	3	1	7	7			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:225368493A>C	ENST00000264414.4	-	9	1591	c.1253T>G	c.(1252-1254)cTt>cGt	p.L418R	CUL3_ENST00000409777.1_Missense_Mutation_p.L394R|CUL3_ENST00000344951.4_Missense_Mutation_p.L352R|CUL3_ENST00000409096.1_Missense_Mutation_p.L394R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	418					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAACCTAAAAAGGACCATTGC	0.303													4	13					0	0	0	0	C	225368493	A	C	225368493	3	2	269	1	0	0	0	0	1	0	0	0	4088	72	3	5	1085	5	CUL3	2	225368493	Missense_Mutation	SNP	A	TCGA-CV-6960-01A-41D-2012-08	10573672	225368493	17830880	37	47827											
DOCK10	55619	broad.mit.edu	37	chr2	225717743	225717743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtaaggccgacaatactttGttgaatcgtaaacaaattct	14	13	7	7	2	1	1	0	1	1	0	2	2	1	1	1	1	2	3	1	1	7	6			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:225717743G>T	ENST00000409592.3	-	17	2080	c.1967C>A	c.(1966-1968)aCa>aAa	p.T656K	DOCK10_ENST00000258390.7_Missense_Mutation_p.T662K			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	662							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACAATACTTTGTTGAATCGTA	0.368													22	38					1.28384e-07	1.50091e-07	1	0	T	225717743	G	T	225717743	3	4	269	1	0	0	0	0	1	0	0	0	4721	1377	48	4	4735	4	DOCK10	2	225717743	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	349250	225717743	17481630	38	47828											
COL6A3	1293	broad.mit.edu	37	chr2	238249123	238249123	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggatggcaacagcctcccGaagcgcatcaaaggctcctc	12	5	10	14	2	1	0	1	0	0	0	4	2	3	1	3	3	3	3	3	3	4	0			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:238249123G>A	ENST00000295550.4	-	38	8888	c.8436C>T	c.(8434-8436)ttC>ttT	p.F2812F	COL6A3_ENST00000409809.1_Silent_p.F2606F|COL6A3_ENST00000472056.1_Silent_p.F2205F|COL6A3_ENST00000347401.3_Silent_p.F2611F|COL6A3_ENST00000353578.4_Silent_p.F2606F|COL6A3_ENST00000346358.4_Silent_p.F2612F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2812	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.F2812F(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACAGCCTCCCGAAGCGCATCA	0.547													20	35					0	0	0	0	A	238249123	G	A	238249123	2	1	269	1	0	0	0	0	0	0	0	1	3731	1049	37	1		1	COL6A3	2	238249123	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08	12531380	238249123	4950250	39	47829											
COL6A3	1293	broad.mit.edu	37	chr2	238283189	238283189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatggccacggcaaagtccGggatgaaggagatggtctgc	11	6	16	8	2	1	2	0	1	1	1	2	5	2	3	2	5	1	1	2	5	3	0			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:238283189G>T	ENST00000295550.4	-	8	3997	c.3545C>A	c.(3544-3546)cCg>cAg	p.P1182Q	COL6A3_ENST00000392004.3_Missense_Mutation_p.P976Q|COL6A3_ENST00000392003.2_Missense_Mutation_p.P775Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.P976Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.P575Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.P981Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.P976Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.P982Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1182	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCAAAGTCCGGGATGAAGGA	0.622													23	39					3.8784e-16	5.55369e-16	1	0	T	238283189	G	T	238283189	3	4	269	1	0	0	0	0	1	0	0	0	3731	1116	39	3	6183	3	COL6A3	2	238283189	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	34066	238283189	4916184	40	47830											
GADL1	339896	broad.mit.edu	37	chr3	30875411	30875411	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatcttgtgtgggttccaGgccacagagtcagccctatt	8	11	11	11	0	2	1	1	0	1	1	3	1	3	1	3	2	2	2	3	2	1	4	rs139652704	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:30875411G>T	ENST00000454381.3	-	11	1030	c.984C>A	c.(982-984)gcC>gcA	p.A328A	GADL1_ENST00000282538.5_Silent_p.A328A			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	328					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	GTGGGTTCCAGGCCACAGAGT	0.448													15	19					3.52763e-06	3.95225e-06	1	0	T	30875411	G	T	30875411	2	4	269	1	0	0	0	0	0	0	0	1	6233	987	35	4		4	GADL1	3	30875411	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08		30875411	167147019	41	47831											
CCR2	729230	broad.mit.edu	37	chr3	46399710	46399710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcctgaaaaccctgcttcGgtgtcgaaacgagaagaaga	15	7	10	9	3	0	4	0	1	0	3	3	6	1	4	2	1	3	1	2	1	6	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:46399710G>T	ENST00000292301.4	+	2	1177	c.692G>T	c.(691-693)cGg>cTg	p.R231L	CCR2_ENST00000445132.2_Missense_Mutation_p.R231L|CCR2_ENST00000400888.2_Missense_Mutation_p.R231L|CCR2_ENST00000465202.1_3'UTR	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	231					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ACCCTGCTTCGGTGTCGAAAC	0.453													103	142					1.26289e-39	1.98454e-39	1	0	T	46399710	G	T	46399710	3	4	269	1	0	0	0	0	1	0	0	0	2970	1116	39	3	694	3	CCR2	3	46399710	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	15524299	46399710	151622720	42	47832											
RNF123	63891	broad.mit.edu	37	chr3	49738099	49738099	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctcactatcgccatcCtgaggcatgagaagtcccgc	8	8	11	14	3	1	2	1	2	0	1	4	3	3	2	3	2	1	2	3	2	2	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:49738099C>T	ENST00000327697.6	+	15	1378	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	RNF123_ENST00000432042.1_Silent_p.L266L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	412						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TATCGCCATCCTGAGGCATGA	0.607													25	38					0	0	0	0	T	49738099	C	T	49738099	2	4	269	1	0	0	0	0	0	0	0	1	13518	680	24	4		4	RNF123	3	49738099	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	3338389	49738099	148284331	43	47833											
ACOX2	8309	broad.mit.edu	37	chr3	58520802	58520802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgcctgctccaggtatccCccaatgacactcggtgcact	7	11	8	15	1	0	1	0	1	0	0	3	1	2	1	4	2	3	3	4	2	2	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:58520802C>T	ENST00000302819.5	-	2	323	c.32G>A	c.(31-33)gGg>gAg	p.G11E	ACOX2_ENST00000459701.2_Missense_Mutation_p.G11E	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	11					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CCAGGTATCCCCCAATGACAC	0.572													61	106					0	0	0	0	T	58520802	C	T	58520802	3	4	269	1	0	0	0	0	1	0	0	0	159	623	22	4	2069	4	ACOX2	3	58520802	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	8782703	58520802	139501628	44	47834											
CNTN3	5067	broad.mit.edu	37	chr3	74350820	74350820	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgacggtttgccaaccCacggagaaaggtgtccgagc	9	8	14	10	3	0	2	0	1	0	1	1	4	1	2	3	3	3	2	3	3	2	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:74350820C>A	ENST00000263665.6	-	14	1950	c.1923G>T	c.(1921-1923)gtG>gtT	p.V641V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	641	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTGCCAACCCACGGAGAAAG	0.448													25	19					4.26978e-12	5.64637e-12	1	0	A	74350820	C	A	74350820	2	1	269	1	0	0	0	0	0	0	0	1	3672	581	21	4		4	CNTN3	3	74350820	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	15830018	74350820	123671610	45	47835											
PHLDB2	90102	broad.mit.edu	37	chr3	111604315	111604315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcattaaccagcatctacaGggcagccttggagatggact	11	10	10	10	0	2	1	1	0	1	1	2	3	2	2	2	3	4	2	2	3	2	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:111604315G>T	ENST00000478922.1	+	2	1534	c.1391G>T	c.(1390-1392)aGg>aTg	p.R464M	PHLDB2_ENST00000393925.3_Intron|PHLDB2_ENST00000431670.2_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000477695.1_Intron|PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000412622.1_Intron			Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	0						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGCATCTACAGGGCAGCCTTG	0.468													14	31					6.72482e-11	8.65642e-11	1	0	T	111604315	G	T	111604315	3	4	269	1	0	0	0	0	1	0	0	0	11924	1015	35	4		4	PHLDB2	3	111604315	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	37253495	111604315	86418115	46	47836											
SI	6476	broad.mit.edu	37	chr3	164758778	164758778	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaacacatgggctttataAaacagagtgtagaggaaggg	16	7	12	6	0	0	2	0	0	0	2	0	3	0	3	1	3	2	2	1	3	6	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:164758778A>G	ENST00000264382.3	-	18	2171	c.2109T>C	c.(2107-2109)ttT>ttC	p.F703F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	703	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGGCTTTATAAAACAGAGTGT	0.348										HNSCC(35;0.089)			27	74					0	0	0	0	G	164758778	A	G	164758778	2	3	269	1	0	0	0	0	0	0	0	1	14385	11	1	5		5	SI	3	164758778	Silent	SNP	A	TCGA-CV-6960-01A-41D-2012-08	53154463	164758778	33263652	47	47837											
SI	6476	broad.mit.edu	37	chr3	164781266	164781266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaaaaaaacaccgaatgActttccagatgtatcttcaa	17	11	4	9	1	2	2	1	1	1	1	3	3	3	2	2	0	1	1	2	0	7	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:164781266A>G	ENST00000264382.3	-	8	933	c.871T>C	c.(871-873)Tca>Cca	p.S291P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	291	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACACCGAATGACTTTCCAGAT	0.259										HNSCC(35;0.089)			8	42					0	0	0	0	G	164781266	A	G	164781266	3	3	269	1	0	0	0	0	1	0	0	0	14385	275	10	5	4776	5	SI	3	164781266	Missense_Mutation	SNP	A	TCGA-CV-6960-01A-41D-2012-08	22488	164781266	33241164	48	47838											
PIK3CA	5290	broad.mit.edu	37	chr3	178951964	178951964	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttttctcaatgatgcttGgctctggaatgccagaacta	10	14	8	9	0	3	2	1	1	3	1	4	3	3	3	1	2	3	2	1	2	4	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:178951964G>C	ENST00000263967.3	+	21	3176	c.3019G>C	c.(3019-3021)Ggc>Cgc	p.G1007R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1007	PI3K/PI4K.		G -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G1007R(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCTTGGCTCTGGAAT	0.378		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			19	43					0	0	0	0	C	178951964	G	C	178951964	3	2	269	1	0	0	0	0	1	0	0	0	11985	1348	47	4	3097	4	PIK3CA	3	178951964	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	14170698	178951964	19070466	49	47839											
CCDC39	339829	broad.mit.edu	37	chr3	180349272	180349272	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attacctttattacataataGgcctgtgttttctcctcttc	8	19	4	10	0	2	0	0	0	2	0	4	0	2	0	3	1	2	1	3	1	5	9			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:180349272G>T	ENST00000273654.4	-	20	2854	c.2235C>A	c.(2233-2235)gcC>gcA	p.A745A	CCDC39_ENST00000442201.2_Silent_p.A661A			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	661					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTACATAATAGGCCTGTGTTT	0.328													11	40					1.58986e-06	1.78952e-06	1	0	T	180349272	G	T	180349272	2	4	269	1	0	0	0	0	0	0	0	1	2837	987	35	4		4	CCDC39	3	180349272	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08	1397308	180349272	17673158	50	47840											
ATP8A1	10396	broad.mit.edu	37	chr4	42588439	42588439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcacactcaattctgcCagaaatcctcatcaaactgt	13	12	3	13	0	5	1	4	0	1	1	6	1	6	1	2	0	2	0	2	0	3	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:42588439C>A	ENST00000381668.5	-	9	880	c.649G>T	c.(649-651)Ggc>Tgc	p.G217C	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G217C	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	217					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCAATTCTGCCAGAAATCCTC	0.343													14	35					0.00316338	0.00328557	1	0	A	42588439	C	A	42588439	3	1	269	1	0	0	0	0	1	0	0	0	1196	594	21	4	2961	4	ATP8A1	4	42588439	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08		42588439	148565837	51	47841											
LPHN3	23284	broad.mit.edu	37	chr4	62812713	62812713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccagtatgaagttgggaaCggaagctttgtccacaaatc	12	10	11	8	1	0	1	0	1	0	0	2	3	1	3	2	2	3	3	2	2	5	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:62812713C>G	ENST00000512091.1	+	15	3044	c.2297C>G	c.(2296-2298)aCg>aGg	p.T766R	LPHN3_ENST00000508946.1_Missense_Mutation_p.T766R|LPHN3_ENST00000506746.1_Missense_Mutation_p.T834R|LPHN3_ENST00000506720.1_Missense_Mutation_p.T834R|LPHN3_ENST00000509896.1_Missense_Mutation_p.T834R|LPHN3_ENST00000507625.1_Missense_Mutation_p.T834R|LPHN3_ENST00000514996.1_Missense_Mutation_p.T766R|LPHN3_ENST00000508693.1_Missense_Mutation_p.T834R|LPHN3_ENST00000514157.1_Missense_Mutation_p.T766R|LPHN3_ENST00000514591.1_Missense_Mutation_p.T766R|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000504896.1_Missense_Mutation_p.T766R|LPHN3_ENST00000507164.1_Missense_Mutation_p.T834R|LPHN3_ENST00000506700.1_Missense_Mutation_p.T766R|LPHN3_ENST00000545650.1_Missense_Mutation_p.T766R|LPHN3_ENST00000511324.1_Missense_Mutation_p.T834R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	753					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAGTTGGGAACGGAAGCTTTG	0.403													59	140					0	0	0	0	G	62812713	C	G	62812713	3	3	269	1	0	0	0	0	1	0	0	0	8981	536	19	3	2347	3	LPHN3	4	62812713	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	20224274	62812713	128341563	52	47842											
PROL1	58503	broad.mit.edu	37	chr4	71275449	71275449	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttttcttgctatttaccTtcctatctctaaccctgagc	6	20	3	12	0	2	1	0	1	2	0	4	1	3	1	3	0	4	1	3	0	4	10			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:71275449T>G	ENST00000399575.2	+	3	578	c.404T>G	c.(403-405)cTt>cGt	p.L135R	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	135	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GCTATTTACCTTCCTATCTCT	0.433													40	68					0	0	0	0	G	71275449	T	G	71275449	3	3	269	1	0	0	0	0	1	0	0	0	12634	1609	56	5	410	5	PROL1	4	71275449	Missense_Mutation	SNP	T	TCGA-CV-6960-01A-41D-2012-08	8462736	71275449	119878827	53	47843											
ADAMTS3	9508	broad.mit.edu	37	chr4	73175117	73175117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagacctcatcttaccaaGcttcctgggagttctggtaa	10	11	10	10	0	3	1	1	0	2	1	4	4	4	2	3	2	2	3	3	2	3	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:73175117G>A	ENST00000286657.4	-	15	2212	c.2176C>T	c.(2176-2178)Ctt>Ttt	p.L726F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	726	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCTTACCAAGCTTCCTGGGA	0.408													18	38					0	0	0	0	A	73175117	G	A	73175117	3	1	269	1	0	0	0	0	1	0	0	0	267	971	34	4	1473	4	ADAMTS3	4	73175117	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	1899668	73175117	117979159	54	47844											
FGF5	2250	broad.mit.edu	37	chr4	81188293	81188293	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccatctgcagatctacccGgatggcaaagtcaatggatc	11	10	9	11	1	3	1	1	0	2	1	5	3	4	3	2	3	2	2	2	3	3	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:81188293G>T	ENST00000456523.3	+	1	501	c.315G>T	c.(313-315)ccG>ccT	p.P105P	FGF5_ENST00000312465.7_Silent_p.P105P	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	105					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGATCTACCCGGATGGCAAAG	0.582													29	58					3.73988e-18	5.51861e-18	1	0	T	81188293	G	T	81188293	2	4	269	1	0	0	0	0	0	0	0	1	5900	1103	39	3		3	FGF5	4	81188293	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08	8013176	81188293	109965983	55	47845											
DNAJB14	79982	broad.mit.edu	37	chr4	100830007	100830007	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcccgtgaggtcatactgTtttcgcttttctggattact	5	18	9	9	2	2	1	1	1	1	0	3	2	2	2	1	2	3	2	1	2	2	7			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:100830007T>C	ENST00000442697.2	-	4	652	c.498A>G	c.(496-498)aaA>aaG	p.K166K		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	166	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		GGTCATACTGTTTTCGCTTTT	0.348													21	40					0	0	0	0	C	100830007	T	C	100830007	2	2	269	1	0	0	0	0	0	0	0	1	4655	1722	60	5		5	DNAJB14	4	100830007	Silent	SNP	T	TCGA-CV-6960-01A-41D-2012-08	19641714	100830007	90324269	56	47846											
ANK2	287	broad.mit.edu	37	chr4	114290872	114290872	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcacagagaggagagctctCcgcggaaaaccagcctcgta	13	4	12	12	3	1	2	0	0	1	2	3	5	1	3	3	2	4	3	3	2	3	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:114290872C>G	ENST00000357077.4	+	43	11574	c.11521C>G	c.(11521-11523)Ccg>Gcg	p.P3841A	ANK2_ENST00000506722.1_Missense_Mutation_p.P1747A|ANK2_ENST00000394537.3_Missense_Mutation_p.P1756A|ANK2_ENST00000509550.1_Missense_Mutation_p.P932A|ANK2_ENST00000510275.2_Missense_Mutation_p.P408A|ANK2_ENST00000264366.6_Missense_Mutation_p.P3808A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3808					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGAGAGCTCTCCGCGGAAAAC	0.537													24	40					0	0	0	0	G	114290872	C	G	114290872	3	3	269	1	0	0	0	0	1	0	0	0	621	855	30	2	11756	2	ANK2	4	114290872	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	13460865	114290872	76863404	57	47847											
TRPC3	7222	broad.mit.edu	37	chr4	122800901	122800901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttgctgcatcattcacatCtcagcatgctgggattcagt	8	13	10	10	0	4	0	4	0	1	0	5	1	4	1	0	2	4	5	0	2	0	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:122800901C>G	ENST00000264811.5	-	11	2955	c.2537G>C	c.(2536-2538)aGa>aCa	p.R846T	TRPC3_ENST00000379645.3_Missense_Mutation_p.R919T|TRPC3_ENST00000513531.1_Missense_Mutation_p.R791T	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	834					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCATTCACATCTCAGCATGCT	0.363													14	35					0	0	0	0	G	122800901	C	G	122800901	3	3	269	1	0	0	0	0	1	0	0	0	16674	913	32	2	13	2	TRPC3	4	122800901	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	8510029	122800901	68353375	58	47848											
FAT4	79633	broad.mit.edu	37	chr4	126408505	126408505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatgttttacagattaaGaatggcaaagtatattttac	16	16	6	3	0	0	2	0	0	0	2	0	2	0	2	0	1	2	3	0	1	9	9			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:126408505G>T	ENST00000394329.3	+	16	12835	c.12822G>T	c.(12820-12822)aaG>aaT	p.K4274N	FAT4_ENST00000335110.5_Missense_Mutation_p.K2515N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4274	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACAGATTAAGAATGGCAAAG	0.318													7	17					0.00198382	0.00206933	1	0	T	126408505	G	T	126408505	3	4	269	1	0	0	0	0	1	0	0	0	5737	933	33	2	12884	2	FAT4	4	126408505	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	3607604	126408505	64745771	59	47849											
PCDH10	57575	broad.mit.edu	37	chr4	134073619	134073619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacctgctgtggccgccaagCccgggcgcgcaagaagaaac	10	3	14	14	4	0	2	0	0	0	2	0	3	0	2	4	2	3	2	4	2	4	0			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:134073619C>A	ENST00000264360.4	+	1	3150	c.2324C>A	c.(2323-2325)gCc>gAc	p.A775D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	775					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGCCGCCAAGCCCGGGCGCGC	0.592													13	26					0.00010058	0.000108662	1	0	A	134073619	C	A	134073619	3	1	269	1	0	0	0	0	1	0	0	0	11578	739	26	4	2326	4	PCDH10	4	134073619	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	7665114	134073619	57080657	60	47850											
CTNND2	1501	broad.mit.edu	37	chr5	10992676	10992676	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttacctgagcggttgttGggagacacgcgcacagggga	8	8	15	10	3	1	2	0	1	1	1	1	4	1	3	1	4	2	3	1	4	1	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:10992676G>T	ENST00000304623.8	-	19	3387	c.3198C>A	c.(3196-3198)ccC>ccA	p.P1066P	CTNND2_ENST00000511377.1_Silent_p.P975P|CTNND2_ENST00000503622.1_Silent_p.P729P|CTNND2_ENST00000359640.2_Silent_p.P1008P|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.P633P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1066					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGCGGTTGTTGGGAGACACGC	0.592													14	57					3.27435e-08	3.90342e-08	1	0	T	10992676	G	T	10992676	2	4	269	1	0	0	0	0	0	0	0	1	4052	1335	47	4		4	CTNND2	5	10992676	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08		10992676	169922584	61	47851											
CTNND2	1501	broad.mit.edu	37	chr5	11397162	11397162	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggctgaagctctggcccGtagctcgggcttgtgtgcct	3	11	14	13	2	1	1	0	1	1	0	2	1	1	1	3	3	3	5	3	3	2	2	rs141302945		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:11397162G>A	ENST00000458100.2	-	0	782				CTNND2_ENST00000511377.1_Missense_Mutation_p.T107M|CTNND2_ENST00000304623.8_Missense_Mutation_p.T198M|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.T198M			Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCTCTGGCCCGTAGCTCGGGC	0.607													41	106					0	0	0	0	A	11397162	G	A	11397162	1	1	269	1	0	0	0	0	0	0	0	0	4052	1145	40	1		1	CTNND2	5	11397162	Translation_Start_Site	SNP	G	TCGA-CV-6960-01A-41D-2012-08	404486	11397162	169518098	62	47852											
NPR3	4883	broad.mit.edu	37	chr5	32783095	32783095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgagaatagatgaaaacCgaattgtagagcatacaaac	20	7	8	6	1	0	4	0	2	0	3	0	6	0	4	1	0	5	2	1	0	9	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:32783095C>G	ENST00000265074.8	+	6	1730	c.1387C>G	c.(1387-1389)Cga>Gga	p.R463G	NPR3_ENST00000415167.2_Missense_Mutation_p.R463G|NPR3_ENST00000434067.2_Missense_Mutation_p.R247G|NPR3_ENST00000415685.2_Missense_Mutation_p.R247G	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	463					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGATGAAAACCGAATTGTAGA	0.383													6	19					0	0	0	0	G	32783095	C	G	32783095	3	3	269	1	0	0	0	0	1	0	0	0	10667	644	23	3	1409	3	NPR3	5	32783095	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	21385933	32783095	148132165	63	47853											
ADAMTS12	81792	broad.mit.edu	37	chr5	33614378	33614378	+	Frame_Shift_Del	DEL	C	C	-																															cactgcactctgtccagtggCcgtactgccagaagtacatc																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:33614378delC	ENST00000504830.1	-	16	2827	c.2492delG	c.(2491-2493)gcfs	p.G831fs	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Frame_Shift_Del_p.G746fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	831	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTCCAGTGGCCGTACTGCCA	0.502										HNSCC(64;0.19)			10	22	---	---	---	---					-	33614378	C	-	33614378	7	5	269	1	0	1	0	1	0	0	0	0	257	739	26	0	2328	0	ADAMTS12	5	33614378	Frame_Shift_Del	DEL	C	TCGA-CV-6960-01A-41D-2012-08	831283	33614378	147300882	64	47854											
RAI14	26064	broad.mit.edu	37	chr5	34823148	34823148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggcccatccctgggaaaaCctggtgaaacctctccccca	9	7	9	16	0	1	1	0	1	1	0	3	2	2	2	6	3	2	0	6	3	3	0			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:34823148C>T	ENST00000265109.3	+	15	1488	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	RAI14_ENST00000506376.1_Missense_Mutation_p.P393S|RAI14_ENST00000503673.1_Missense_Mutation_p.P401S|RAI14_ENST00000428746.2_Missense_Mutation_p.P401S|RAI14_ENST00000397449.1_Missense_Mutation_p.P394S|RAI14_ENST00000512629.1_Missense_Mutation_p.P372S|RAI14_ENST00000515799.1_Missense_Mutation_p.P404S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	401						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CCTGGGAAAACCTGGTGAAAC	0.453													25	53					0	0	0	0	T	34823148	C	T	34823148	3	4	269	1	0	0	0	0	1	0	0	0	13090	507	18	4	1320	4	RAI14	5	34823148	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	1208770	34823148	146092112	65	47855											
GRIA1	2890	broad.mit.edu	37	chr5	153056596	153056596	+	Nonsense_Mutation	SNP	G	G	T																															atggggtgaaggtgatggctGaggctttccagagcctgcgg																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:153056596G>T	ENST00000285900.5	+	7	1247	c.904G>T	c.(904-906)Gag>Tag	p.E302*	GRIA1_ENST00000518783.1_Nonsense_Mutation_p.E312*|GRIA1_ENST00000518142.1_Nonsense_Mutation_p.E222*|GRIA1_ENST00000340592.5_Nonsense_Mutation_p.E302*|GRIA1_ENST00000521843.2_Nonsense_Mutation_p.E233*|GRIA1_ENST00000448073.4_Nonsense_Mutation_p.E312*	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	302					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTGATGGCTGAGGCTTTCCA	0.552													17	23					1.67942e-08	2.01197e-08	1	0	T	153056596	G	T	153056596	4	4	269	1	0	0	0	0	0	1	0	0	6817	1291	45	2	930	2	GRIA1	5	153056596	Nonsense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	118233448	153056596	27858664	66	47856	363	2									
GRIA1	2890	broad.mit.edu	37	chr5	153056599	153056599	+	Missense_Mutation	SNP	G	G	C																															gggtgaaggtgatggctgagGctttccagagcctgcggagg																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:153056599G>C	ENST00000285900.5	+	7	1250	c.907G>C	c.(907-909)Gct>Cct	p.A303P	GRIA1_ENST00000518783.1_Missense_Mutation_p.A313P|GRIA1_ENST00000518142.1_Missense_Mutation_p.A223P|GRIA1_ENST00000340592.5_Missense_Mutation_p.A303P|GRIA1_ENST00000521843.2_Missense_Mutation_p.A234P|GRIA1_ENST00000448073.4_Missense_Mutation_p.A313P	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	303					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GATGGCTGAGGCTTTCCAGAG	0.562													15	21					0	0	0	0	C	153056599	G	C	153056599	3	2	269	1	0	0	0	0	1	0	0	0	6817	1203	42	4	933	4	GRIA1	5	153056599	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	3	153056599	27858661	67	47857	363	2									
RARS	5917	broad.mit.edu	37	chr5	167921571	167921571	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggttttattaatgtccaCttaagaaaggattttgtatc	12	18	7	4	0	0	1	0	0	0	1	2	2	1	2	1	2	0	2	1	2	6	8			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:167921571C>T	ENST00000231572.3	+	5	549	c.495C>T	c.(493-495)caC>caT	p.H165H	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	165					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TTAATGTCCACTTAAGAAAGG	0.358													8	28					0	0	0	0	T	167921571	C	T	167921571	2	4	269	1	0	0	0	0	0	0	0	1	13140	564	20	4		4	RARS	5	167921571	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	14864972	167921571	12993689	68	47858											
NSD1	64324	broad.mit.edu	37	chr5	176687055	176687055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacttttgcctggctgctGggtcaaagatccttgcatct	7	14	10	10	0	2	2	1	1	1	1	3	2	3	2	2	2	3	3	2	2	1	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:176687055G>T	ENST00000439151.2	+	14	5077	c.5032G>T	c.(5032-5034)Ggg>Tgg	p.G1678W	NSD1_ENST00000361032.4_Missense_Mutation_p.G1575W|NSD1_ENST00000347982.4_Missense_Mutation_p.G1409W|NSD1_ENST00000354179.4_Missense_Mutation_p.G1409W	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1678					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTGGCTGCTGGGTCAAAGAT	0.488			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	30					1.49906e-05	1.64897e-05	1	0	T	176687055	G	T	176687055	3	4	269	1	0	0	0	0	1	0	0	0	10740	1348	47	4	5082	4	NSD1	5	176687055	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	8765484	176687055	4228205	69	47859											
GCNT2	2651	broad.mit.edu	37	chr6	10529410	10529410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatgtaacagaaacactctCtgaagaagaggctgggttcc	13	9	10	9	0	1	4	0	1	1	3	3	4	2	4	1	2	2	3	1	2	5	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:10529410C>T	ENST00000379597.3	+	1	822	c.266C>T	c.(265-267)tCt>tTt	p.S89F	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.S89F			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	89						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GAAACACTCTCTGAAGAAGAG	0.428													31	43					0	0	0	0	T	10529410	C	T	10529410	3	4	269	1	0	0	0	0	1	0	0	0	6350	913	32	2	268	2	GCNT2	6	10529410	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08		10529410	160585657	70	47860											
PEX6	5190	broad.mit.edu	37	chr6	42936617	42936617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagagaccctcaccttcaGtaagtggagcccaaggtgac	11	7	10	13	0	2	2	2	1	0	1	3	4	3	3	4	2	1	1	4	2	2	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:42936617G>A	ENST00000304611.8	-	6	1543	c.1474C>T	c.(1474-1476)Ctg>Ttg	p.L492L	PEX6_ENST00000244546.4_Silent_p.L492L	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	492					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CTCACCTTCAGTAAGTGGAGC	0.587													29	15					0	0	0	0	A	42936617	G	A	42936617	2	1	269	1	0	0	0	0	0	0	0	1	11822	1020	36	4		4	PEX6	6	42936617	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08	32407207	42936617	128178450	71	47861											
COL12A1	1303	broad.mit.edu	37	chr6	75825753	75825753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acctggtgaggtgtagccatCcaaataaatgagaggacaac	15	7	11	8	0	0	2	0	2	0	1	1	4	1	3	3	3	2	1	3	3	5	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:75825753C>T	ENST00000322507.8	-	48	7849	c.7540G>A	c.(7540-7542)Gat>Aat	p.D2514N	COL12A1_ENST00000416123.2_Missense_Mutation_p.D2514N|COL12A1_ENST00000483888.2_Missense_Mutation_p.D2514N|COL12A1_ENST00000345356.6_Missense_Mutation_p.D1350N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2514	Nonhelical region (NC3).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTGTAGCCATCCAAATAAATG	0.328													4	30					0	0	0	0	T	75825753	C	T	75825753	3	4	269	1	0	0	0	0	1	0	0	0	3699	855	30	2	1727	2	COL12A1	6	75825753	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	32889136	75825753	95289314	72	47862											
ARMC2	84071	broad.mit.edu	37	chr6	109215694	109215694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggggaagagacatgcgagGgcctcatcatgccccagtag	11	5	14	11	1	2	1	2	0	0	1	2	4	2	2	3	3	2	1	3	3	2	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:109215694G>T	ENST00000392644.4	+	6	864	c.696G>T	c.(694-696)agG>agT	p.R232S	ARMC2_ENST00000368972.3_Missense_Mutation_p.R67S	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	232							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GACATGCGAGGGCCTCATCAT	0.488													22	56					7.41877e-09	9.02182e-09	1	0	T	109215694	G	T	109215694	3	4	269	1	0	0	0	0	1	0	0	0	955	1223	43	4	714	4	ARMC2	6	109215694	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	33389941	109215694	61899373	73	47863											
RFPL4B	442247	broad.mit.edu	37	chr6	112671295	112671295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccacgatctgacaaaaGatcccaggctggcctgtgtc	10	8	9	14	1	1	2	0	1	1	1	4	3	3	2	4	2	0	1	4	2	2	0			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:112671295G>T	ENST00000441065.2	+	3	697	c.385G>T	c.(385-387)Gat>Tat	p.D129Y	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	129	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TCTGACAAAAGATCCCAGGCT	0.557													22	38					3.5997e-14	4.97787e-14	1	0	T	112671295	G	T	112671295	3	4	269	1	0	0	0	0	1	0	0	0	13338	942	33	2	387	2	RFPL4B	6	112671295	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	3455601	112671295	58443772	74	47864											
RFPL4B	442247	broad.mit.edu	37	chr6	112671407	112671407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcgtctgcaaggagcCggctgacagaaagagcaatg	11	5	15	10	2	1	3	0	1	1	2	1	4	1	4	2	3	3	3	2	3	3	0			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:112671407C>A	ENST00000441065.2	+	3	809	c.497C>A	c.(496-498)cCg>cAg	p.P166Q		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	166	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TGCAAGGAGCCGGCTGACAGA	0.547													30	67					7.01153e-11	8.97773e-11	1	0	A	112671407	C	A	112671407	3	1	269	1	0	0	0	0	1	0	0	0	13338	652	23	3	499	3	RFPL4B	6	112671407	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	112	112671407	58443660	75	47865											
LAMA2	3908	broad.mit.edu	37	chr6	129723502	129723502	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaaactaaattgccacctAtgtctgaggagcttaatgat	13	12	7	9	0	1	2	0	2	1	0	2	3	2	3	3	1	3	1	3	1	5	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:129723502A>G	ENST00000421865.2	+	39	5645	c.5596A>G	c.(5596-5598)Atg>Gtg	p.M1866V		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1866	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTGCCACCTATGTCTGAGGA	0.423													13	21					0	0	0	0	G	129723502	A	G	129723502	3	3	269	1	0	0	0	0	1	0	0	0	8659	449	16	5	5750	5	LAMA2	6	129723502	Missense_Mutation	SNP	A	TCGA-CV-6960-01A-41D-2012-08	17052095	129723502	41391565	76	47866											
L3MBTL3	84456	broad.mit.edu	37	chr6	130378576	130378576	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctaaaggaaagaaagcGtggtgctgggcatcctacct	11	8	11	11	1	0	1	0	0	0	1	2	2	2	2	4	3	3	2	4	3	5	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:130378576G>T	ENST00000529410.1	+	11	1172	c.693G>T	c.(691-693)gcG>gcT	p.A231A	L3MBTL3_ENST00000368139.2_Silent_p.A206A|L3MBTL3_ENST00000361794.2_Silent_p.A231A|L3MBTL3_ENST00000368136.2_Silent_p.A231A|L3MBTL3_ENST00000526019.1_Silent_p.A206A|L3MBTL3_ENST00000533560.1_Silent_p.A206A			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	231					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GAAAGAAAGCGTGGTGCTGGG	0.522													7	17					1.26484e-09	1.5617e-09	1	0	T	130378576	G	T	130378576	2	4	269	1	0	0	0	0	0	0	0	1	8646	1132	40	3		3	L3MBTL3	6	130378576	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08	655074	130378576	40736491	77	47867											
MAP3K5	4217	broad.mit.edu	37	chr6	136990474	136990474	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtccagctgccaggaggAggaccgcataattaattcct	10	9	12	10	1	0	0	0	0	0	0	2	3	2	3	4	4	2	2	4	4	2	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:136990474A>G	ENST00000359015.4	-	8	1673	c.1313T>C	c.(1312-1314)cTc>cCc	p.L438P		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	438					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGCCAGGAGGAGGACCGCATA	0.388													3	96					0	0	0	0	G	136990474	A	G	136990474	3	3	269	1	0	0	0	0	1	0	0	0	9322	304	11	5	2903	5	MAP3K5	6	136990474	Missense_Mutation	SNP	A	TCGA-CV-6960-01A-41D-2012-08	6611898	136990474	34124593	78	47868											
NPVF	64111	broad.mit.edu	37	chr7	25266438	25266438	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcacgaggctcacctccaTatttcttccagatctcagag	9	12	6	14	1	4	2	3	0	3	2	8	3	6	2	3	1	0	1	3	1	1	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:25266438T>C	ENST00000222674.2	-	2	392	c.346A>G	c.(346-348)Atg>Gtg	p.M116V		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	116					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTCACCTCCATATTTCTTCCA	0.493													48	119					0	0	0	0	C	25266438	T	C	25266438	3	2	269	1	0	0	0	0	1	0	0	0	10676	1406	49	5	252	5	NPVF	7	25266438	Missense_Mutation	SNP	T	TCGA-CV-6960-01A-41D-2012-08		25266438	133872225	79	47869											
PDE1C	5137	broad.mit.edu	37	chr7	32209516	32209516	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggcttctccttgacattCcctgtgagcccatcgatgag	6	13	9	13	1	1	3	0	3	1	0	4	4	2	3	3	1	1	1	3	1	0	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:32209516C>A	ENST00000396193.1	-	3	782	c.189G>T	c.(187-189)ggG>ggT	p.G63G		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCTTGACATTCCCTGTGAGCC	0.517													25	105					3.6726e-16	5.2903e-16	1	0	A	32209516	C	A	32209516	2	1	269	1	0	0	0	0	0	0	0	1	11706	870	30	2		2	PDE1C	7	32209516	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	6943078	32209516	126929147	80	47870											
AMPH	273	broad.mit.edu	37	chr7	38433765	38433765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggggccccctcagctGctgacaccaaggttccaaca	8	7	9	17	0	1	1	1	1	0	0	3	1	3	1	5	3	3	3	5	3	2	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:38433765G>A	ENST00000356264.2	-	18	1663	c.1448C>T	c.(1447-1449)gCa>gTa	p.A483V	AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000325590.5_Missense_Mutation_p.A441V|AMPH_ENST00000428293.2_Missense_Mutation_p.A441V	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	483					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCCCTCAGCTGCTGACACCAA	0.587													55	66					0	0	0	0	A	38433765	G	A	38433765	3	1	269	1	0	0	0	0	1	0	0	0	588	1319	46	4	655	4	AMPH	7	38433765	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	6224249	38433765	120704898	81	47871											
IGFBP1	3484	broad.mit.edu	37	chr7	45928583	45928583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgcaggagtctgacgcctCcgctccccatgctgcaggta	6	8	12	15	3	1	1	0	1	1	0	3	2	3	2	4	2	3	5	4	2	1	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:45928583C>A	ENST00000275525.3	+	1	628	c.332C>A	c.(331-333)tCc>tAc	p.S111Y	IGFBP1_ENST00000457280.1_Missense_Mutation_p.S111Y|IGFBP1_ENST00000468955.1_Missense_Mutation_p.S111Y	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	111						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TCTGACGCCTCCGCTCCCCAT	0.741													4	4					0.00909568	0.00932693	1	0	A	45928583	C	A	45928583	3	1	269	1	0	0	0	0	1	0	0	0	7631	855	30	2	334	2	IGFBP1	7	45928583	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	7494818	45928583	113210080	82	47872											
GTF2IRD1	9569	broad.mit.edu	37	chr7	74015431	74015431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcggaaggaaattccgtctCctcttcctcctcgtcttcct	5	14	6	16	3	3	0	0	0	3	0	10	2	7	2	5	2	0	0	5	2	2	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:74015431C>G	ENST00000476977.1	+	26	4381	c.2690C>G	c.(2689-2691)tCc>tGc	p.S897C	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.S897C|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.S929C|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.S912C			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	912						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AATTCCGTctcctcttcctcc	0.542													23	27					0	0	0	0	G	74015431	C	G	74015431	3	3	269	1	0	0	0	0	1	0	0	0	6918	855	30	2	2833	2	GTF2IRD1	7	74015431	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	28086848	74015431	85123232	83	47873											
PON1	5444	broad.mit.edu	37	chr7	94946068	94946068	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctaatgaaagccagtccaTtaggcagtatctccaagtct	13	10	8	10	0	2	1	0	1	2	0	4	1	3	1	3	1	2	3	3	1	5	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:94946068T>G	ENST00000222381.3	-	3	410	c.179A>C	c.(178-180)aAt>aCt	p.N60T	PON1_ENST00000542556.1_Missense_Mutation_p.N60T	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	60					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AGCCAGTCCATTAGGCAGTAT	0.398													46	323					0	0	0	0	G	94946068	T	G	94946068	3	3	269	1	0	0	0	0	1	0	0	0	12320	1493	52	5	916	5	PON1	7	94946068	Missense_Mutation	SNP	T	TCGA-CV-6960-01A-41D-2012-08	20930637	94946068	64192595	84	47874											
TECPR1	25851	broad.mit.edu	37	chr7	97872809	97872809	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacacagcccacactgaCaggcggcccacaggctcctc	11	3	10	17	1	0	2	0	1	0	1	2	3	1	2	3	3	1	1	3	3	0	0			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:97872809C>A	ENST00000447648.2	-	6	926	c.627G>T	c.(625-627)ctG>ctT	p.L209L	TECPR1_ENST00000379795.3_Silent_p.L209L|TECPR1_ENST00000542604.1_Silent_p.L130L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	209						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCACACTGACAGGCGGCCCA	0.647													84	47					1.51188e-25	2.36048e-25	1	0	A	97872809	C	A	97872809	2	1	269	1	0	0	0	0	0	0	0	1	15837	465	17	4		4	TECPR1	7	97872809	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	2926741	97872809	61265854	85	47875											
MUC17	140453	broad.mit.edu	37	chr7	100685833	100685833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccagctctgagggtagCaccctttcaacaccttctgt	8	11	9	13	0	3	2	1	2	2	0	3	2	3	2	3	1	3	3	3	1	2	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:100685833C>T	ENST00000306151.4	+	3	11200	c.11136C>T	c.(11134-11136)agC>agT	p.S3712S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3712	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGAGGGTAGCACCCTTTCAA	0.507													441	189					0	0	0	0	T	100685833	C	T	100685833	2	4	269	1	0	0	0	0	0	0	0	1	10044	709	25	4		4	MUC17	7	100685833	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	2813024	100685833	58452830	86	47876											
RELN	5649	broad.mit.edu	37	chr7	103216153	103216153	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatcggaatctggtcttgCtgttgggaaaaacaacacac	12	10	9	10	1	2	0	0	0	2	0	4	2	3	2	1	3	3	2	1	3	4	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:103216153C>A	ENST00000428762.1	-	29	4305		c.e29-1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTGGTCTTGCTGTTGGGAAA	0.403													16	165					5.01169e-05	5.4632e-05	1	0	A	103216153	C	A	103216153	5	1	269	1	0	0	0	0	0	0	1	0	13302	811	28	4	6385	4	RELN	7	103216153	Splice_Site	SNP	C	TCGA-CV-6960-01A-41D-2012-08	2530320	103216153	55922510	87	47877											
LAMB1	3912	broad.mit.edu	37	chr7	107580499	107580499	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggggctctgcgccaggatGtcttttatctcgctgacttt	4	14	12	11	3	3	1	0	1	3	0	4	2	3	2	1	3	1	2	1	3	1	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:107580499G>C	ENST00000393561.1	-	23	3952	c.3768C>G	c.(3766-3768)gaC>gaG	p.D1256E	LAMB1_ENST00000222399.6_Missense_Mutation_p.D1232E			P07942	LAMB1_HUMAN	laminin, beta 1	1232	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGCCAGGATGTCTTTTATCT	0.498													36	37					0	0	0	0	C	107580499	G	C	107580499	3	2	269	1	0	0	0	0	1	0	0	0	8663	1368	48	4	1704	4	LAMB1	7	107580499	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	4364346	107580499	51558164	88	47878											
CADPS2	93664	broad.mit.edu	37	chr7	122028668	122028668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctctagcatatcactggCcattagtttaagtctttgct	8	15	8	10	0	3	0	1	0	2	0	3	0	3	0	2	2	2	3	2	2	4	6			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:122028668C>T	ENST00000334010.7	-	21	3548	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T	RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.A999T|CADPS2_ENST00000449022.2_Missense_Mutation_p.A1045T|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.A999T	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1045	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ATATCACTGGCCATTAGTTTA	0.408													6	7					0	0	0	0	T	122028668	C	T	122028668	3	4	269	1	0	0	0	0	1	0	0	0	2596	739	26	4	808	4	CADPS2	7	122028668	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	14448169	122028668	37109995	89	47879											
OR6V1	346517	broad.mit.edu	37	chr7	142750110	142750110	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatagtgaccactgtgctgCggatcccctctgccagcagc	8	8	10	15	1	1	1	0	1	1	0	2	2	2	2	4	1	5	2	4	1	1	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:142750110C>A	ENST00000418316.1	+	1	694	c.673C>A	c.(673-675)Cgg>Agg	p.R225R		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CACTGTGCTGCGGATCCCCTC	0.532													55	63					2.12129e-23	3.26975e-23	1	0	A	142750110	C	A	142750110	2	1	269	1	0	0	0	0	0	0	0	1	11282	759	27	3		3	OR6V1	7	142750110	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	20721442	142750110	16388553	90	47880											
CEBPD	1052	broad.mit.edu	37	chr8	48649939	48649939	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcagctgcttgaagaactgCcggaggccggccaggtcccg	7	5	16	13	3	0	2	0	1	0	1	1	3	1	3	4	5	4	3	4	5	2	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr8:48649939C>A	ENST00000408965.3	-	1	1709	c.744G>T	c.(742-744)cgG>cgT	p.R248R		NM_005195.3	NP_005186.2	P49716	CEBPD_HUMAN	CCAAT/enhancer binding protein (C/EBP), delta	248	Leucine-zipper.		R -> W (in dbSNP:rs34948549).		transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(86;0.0782)|Lung NSC(58;0.00363)|all_epithelial(80;0.0042)|all_lung(54;0.00914)				TGAAGAACTGCCGGAGGCCGG	0.687													11	30					1.58986e-06	1.78952e-06	1	0	A	48649939	C	A	48649939	2	1	269	1	0	0	0	0	0	0	0	1	3230	726	26	4		4	CEBPD	8	48649939	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08		48649939	97714083	91	47881											
ARFGEF1	10565	broad.mit.edu	37	chr8	68184172	68184172	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcgtagttcatgagacCtaaaatgtaaaaaagaaggc	17	9	10	5	1	1	2	1	1	0	2	2	4	1	3	1	2	0	3	1	2	7	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr8:68184172C>A	ENST00000262215.3	-	10	1727		c.e10-1			NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCATGAGACCTAAAATGTAA	0.318													12	13					6.40141e-05	6.94682e-05	1	0	A	68184172	C	A	68184172	5	1	269	1	0	0	0	0	0	0	1	0	854	695	24	4	4332	4	ARFGEF1	8	68184172	Splice_Site	SNP	C	TCGA-CV-6960-01A-41D-2012-08	19534233	68184172	78179850	92	47882											
INTS8	55656	broad.mit.edu	37	chr8	95863869	95863869	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacaaattttaattgaattAcatggtatgacttcagagcg	15	13	8	5	1	1	4	1	2	0	2	1	4	1	4	0	1	2	1	0	1	5	6			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr8:95863869A>G	ENST00000523731.1	+	13	1729	c.1596A>G	c.(1594-1596)ttA>ttG	p.L532L	INTS8_ENST00000447247.1_Silent_p.L532L	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	532					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TAATTGAATTACATGGTATGA	0.363													19	45					0	0	0	0	G	95863869	A	G	95863869	2	3	269	1	0	0	0	0	0	0	0	1	7837	388	14	5		5	INTS8	8	95863869	Silent	SNP	A	TCGA-CV-6960-01A-41D-2012-08	27679697	95863869	50500153	93	47883											
RIMS2	9699	broad.mit.edu	37	chr8	105026790	105026790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcaagtactccagtcgcagGacgaaggggccgacagcttc	11	6	12	12	3	1	0	1	0	0	0	4	3	2	1	2	3	2	3	2	3	3	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr8:105026790G>T	ENST00000507740.1	+	17	2959	c.2723G>T	c.(2722-2724)gGa>gTa	p.G908V	RIMS2_ENST00000262231.10_Missense_Mutation_p.G933V|RIMS2_ENST00000406091.3_Missense_Mutation_p.G1094V|RIMS2_ENST00000436393.2_Missense_Mutation_p.G834V	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1156	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGTCGCAGGACGAAGGGGC	0.438										HNSCC(12;0.0054)			21	26					4.63292e-17	6.79495e-17	1	0	T	105026790	G	T	105026790	3	4	269	1	0	0	0	0	1	0	0	0	13453	1174	41	2	3551	2	RIMS2	8	105026790	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	9162921	105026790	41337232	94	47884											
COL22A1	169044	broad.mit.edu	37	chr8	139890335	139890335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtggtaggcgagacgccGggcagccgccttgacctcct	5	6	14	16	5	0	2	0	1	0	1	1	3	1	2	6	3	1	2	6	3	1	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr8:139890335G>A	ENST00000303045.6	-	3	762	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R106W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	106	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCGAGACGCCGGGCAGCCGCC	0.716										HNSCC(7;0.00092)			16	4					0	0	0	0	A	139890335	G	A	139890335	3	1	269	1	0	0	0	0	1	0	0	0	3711	1115	39	1	4816	1	COL22A1	8	139890335	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	34863545	139890335	6473687	95	47885											
DMRT3	58524	broad.mit.edu	37	chr9	990980	990980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggtctgactcctcagactCtagaacactcaacacatcat	13	9	6	13	0	5	3	3	1	2	2	6	4	6	3	1	1	2	0	1	1	3	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:990980C>G	ENST00000190165.2	+	2	1432	c.1394C>G	c.(1393-1395)tCt>tGt	p.S465C		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	465					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCCTCAGACTCTAGAACACTC	0.512													32	39					0	0	0	0	G	990980	C	G	990980	3	3	269	1	0	0	0	0	1	0	0	0	4624	913	32	2	1400	2	DMRT3	9	990980	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08		990980	140222451	96	47886											
ARID3C	138715	broad.mit.edu	37	chr9	34622436	34622436	+	Frame_Shift_Del	DEL	G	G	-																															tcagcacagctctcttctctGggggctcctctggtgccaat																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:34622436delG	ENST00000378909.2	-	5	1048	c.956delC	c.(955-957)cafs	p.P319fs		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	319	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TCTCTTCTCTGGGGGCTCCTC	0.607													21	39	---	---	---	---					-	34622436	G	-	34622436	7	5	269	1	0	1	0	1	0	0	0	0	920	1348	47	0	293	0	ARID3C	9	34622436	Frame_Shift_Del	DEL	G	TCGA-CV-6960-01A-41D-2012-08	33631456	34622436	106590995	97	47887											
TRPM6	140803	broad.mit.edu	37	chr9	77403655	77403655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgaggaatgccaaatacgCcatctgtgagggggacacac	13	6	12	10	1	1	2	0	2	1	0	1	4	1	4	2	3	2	0	2	3	3	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:77403655C>T	ENST00000451710.3	-	20	2779	c.2542G>A	c.(2542-2544)Gcg>Acg	p.A848T	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.A848T|TRPM6_ENST00000449912.2_Missense_Mutation_p.A843T|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.A843T|TRPM6_ENST00000360774.1_Missense_Mutation_p.A848T			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	848					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						GCCAAATACGCCATCTGTGAG	0.532													6	30					0	0	0	0	T	77403655	C	T	77403655	3	4	269	1	0	0	0	0	1	0	0	0	16685	739	26	4	3606	4	TRPM6	9	77403655	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	42781219	77403655	63809776	98	47888											
FGD3	89846	broad.mit.edu	37	chr9	95795123	95795123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgcagagattgtttcCtgacacagccagtggcccct	7	11	11	12	0	1	2	0	1	1	1	2	3	2	2	4	1	2	2	4	1	0	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:95795123C>A	ENST00000375482.3	+	16	2249	c.1753C>A	c.(1753-1755)Ctg>Atg	p.L585M	FGD3_ENST00000416701.2_Missense_Mutation_p.L585M|FGD3_ENST00000337352.6_Missense_Mutation_p.L585M|FGD3_ENST00000538555.1_Missense_Mutation_p.L188M	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	585					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGATTGTTTCCTGACACAGCC	0.637													42	112					2.45108e-15	3.44861e-15	1	0	A	95795123	C	A	95795123	3	1	269	1	0	0	0	0	1	0	0	0	5879	680	24	4	1807	4	FGD3	9	95795123	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	18391468	95795123	45418308	99	47889											
TBC1D2	55357	broad.mit.edu	37	chr9	100963875	100963875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgagggagagatccacgtgGtgctgccccagatgggccat	9	6	15	11	2	0	2	0	0	0	2	1	5	1	3	4	3	2	1	4	3	0	0	rs148540803	by1000genomes	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:100963875G>T	ENST00000375066.5	-	11	2434	c.2343C>A	c.(2341-2343)caC>caA	p.H781Q	TBC1D2_ENST00000375064.1_Missense_Mutation_p.H781Q|TBC1D2_ENST00000375063.1_Missense_Mutation_p.H321Q|TBC1D2_ENST00000342112.5_Missense_Mutation_p.H563Q	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	781	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GATCCACGTGGTGCTGCCCCA	0.607													19	54					1.96292e-10	2.46128e-10	1	0	T	100963875	G	T	100963875	3	4	269	1	0	0	0	0	1	0	0	0	15699	1252	44	4	422	4	TBC1D2	9	100963875	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	5168752	100963875	40249556	100	47890											
GRIN3A	116443	broad.mit.edu	37	chr9	104499694	104499694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgccgacaccccttgcaCcaccacggtatggcacacac	10	4	8	19	3	0	0	0	0	0	0	0	1	0	0	5	2	2	3	5	2	1	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:104499694C>T	ENST00000361820.3	-	1	1168	c.568G>A	c.(568-570)Gtg>Atg	p.V190M		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	190					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ACCCCTTGCACCACCACGGTA	0.587													17	45					0	0	0	0	T	104499694	C	T	104499694	3	4	269	1	0	0	0	0	1	0	0	0	6833	507	18	4	2815	4	GRIN3A	9	104499694	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	3535819	104499694	36713737	101	47891											
OR13F1	138805	broad.mit.edu	37	chr9	107267065	107267066	+	Frame_Shift_Ins	INS	-	-	A																															tctgtggtaatagcatcatcINSaatcatttcacttgtgaaat																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:107267065_107267066insA	ENST00000334726.2	+	1	611_612	c.522_523insA	c.(520-525)atatcafs	p.S175fs		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATAGCATCATCAATCATTTCAC	0.48													35	105	---	---	---	---					A	107267066	-	A	107267065	7	5	269	1	0	1	1	0	0	0	0	0	11012	816	29	0	524	0	OR13F1	9	107267065	Frame_Shift_Ins	INS	-	TCGA-CV-6960-01A-41D-2012-08	2767371	107267065	33946366	102	47892											
FKTN	2218	broad.mit.edu	37	chr9	108366711	108366711	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagacttaaagaacacatTgacaggaaatttgttccctt	14	13	7	7	0	0	3	0	2	0	2	1	5	1	4	1	1	1	1	1	1	4	6			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:108366711T>A	ENST00000223528.2	+	5	709	c.585T>A	c.(583-585)atT>atA	p.I195I	FKTN_ENST00000357998.5_Silent_p.I195I|FKTN_ENST00000602661.1_Silent_p.I195I|FKTN_ENST00000448551.2_Silent_p.I195I|FKTN_ENST00000540160.1_Silent_p.I195I	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	195					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AAGAACACATTGACAGGAAAT	0.443													16	34					0	0	0	0	A	108366711	T	A	108366711	2	1	269	1	0	0	0	0	0	0	0	1	5964	1800	63	5		5	FKTN	9	108366711	Silent	SNP	T	TCGA-CV-6960-01A-41D-2012-08	1099646	108366711	32846720	103	47893											
SVEP1	79987	broad.mit.edu	37	chr9	113169643	113169643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagcctgctagaatgtgtCcaggtttacagctatactgc	10	11	10	10	0	0	2	0	0	0	2	1	2	1	2	2	1	6	3	2	1	5	5			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:113169643C>A	ENST00000401783.2	-	38	8573	c.8237G>T	c.(8236-8238)gGa>gTa	p.G2746V	SVEP1_ENST00000297826.5_Missense_Mutation_p.G672V|SVEP1_ENST00000374469.1_Missense_Mutation_p.G2723V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2746	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAGAATGTGTCCAGGTTTACA	0.443													28	65					1.26454e-06	1.44349e-06	1	0	A	113169643	C	A	113169643	3	1	269	1	0	0	0	0	1	0	0	0	15510	855	30	2	2522	2	SVEP1	9	113169643	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	4802932	113169643	28043788	104	47894											
FCN2	2220	broad.mit.edu	37	chr9	137772670	137772670	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaagaccagaagagatGgagctggacagagctgtggg	15	4	16	6	0	0	4	0	0	0	4	0	7	0	6	1	3	3	3	1	3	3	0			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:137772670G>T	ENST00000350339.2	+	1	17	c.3G>T	c.(1-3)atG>atT	p.M1I	FCN2_ENST00000291744.6_Start_Codon_SNP_p.M1I	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	1					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CAGAAGAGATGGAGCTGGACA	0.592													14	29					6.31663e-08	7.49325e-08	1	0	T	137772670	G	T	137772670	1	4	269	1	0	0	0	0	0	0	0	0	5837	1348	47	4		4	FCN2	9	137772670	Translation_Start_Site	SNP	G	TCGA-CV-6960-01A-41D-2012-08	24603027	137772670	3440761	105	47895											
PNPLA7	375775	broad.mit.edu	37	chr9	140438232	140438232	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgctgccggggcagggcAgtgttctccacaagggtgtt	5	8	16	12	2	1	0	0	0	1	0	2	0	1	0	3	4	1	5	3	4	1	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:140438232A>C	ENST00000406427.1	-	5	645	c.309T>G	c.(307-309)acT>acG	p.T103T	PNPLA7_ENST00000277531.4_Silent_p.T78T	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	78					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGGGCAGGGCAGTGTTCTCCA	0.622													21	64					0	0	0	0	C	140438232	A	C	140438232	2	2	269	1	0	0	0	0	0	0	0	1	12242	175	7	5		5	PNPLA7	9	140438232	Silent	SNP	A	TCGA-CV-6960-01A-41D-2012-08	2665562	140438232	775199	106	47896											
HSPA14	51182	broad.mit.edu	37	chr10	14894529	14894529	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctagcttctgagttccaaAggtgagtgttaatggcctga	10	13	11	7	0	2	3	0	3	2	0	3	3	3	3	2	2	1	3	2	2	3	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:14894529A>T	ENST00000378372.3	+	8	972	c.734_splice	c.e8+1	p.R245_splice		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	245					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TGAGTTCCAAAGGTGAGTGTT	0.358													30	61					0	0	0	0	T	14894529	A	T	14894529	5	4	269	1	0	0	0	0	0	0	1	0	7459	86	3	5	763	5	HSPA14	10	14894529	Splice_Site	SNP	A	TCGA-CV-6960-01A-41D-2012-08		14894529	120640218	107	47897											
SLC39A12	221074	broad.mit.edu	37	chr10	18331685	18331685	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctggatgatgtttctcCtgcaaaactttggattgatc	9	14	9	9	0	1	2	0	2	1	0	3	5	1	4	2	2	2	2	2	2	2	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:18331685C>A	ENST00000377369.2	+	13	2272	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M	SLC39A12_ENST00000377371.3_Missense_Mutation_p.L666M|SLC39A12_ENST00000539911.1_Missense_Mutation_p.L533M|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L630M	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	667					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GATGTTTCTCCTGCAAAACTT	0.353													16	61					6.94344e-10	8.66141e-10	1	0	A	18331685	C	A	18331685	3	1	269	1	0	0	0	0	1	0	0	0	14703	680	24	4	2045	4	SLC39A12	10	18331685	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	3437156	18331685	117203062	108	47898											
RASGEF1A	221002	broad.mit.edu	37	chr10	43691705	43691705	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgcctcaggctctgttcAgaagggtggtcctagagggg	7	9	15	10	1	3	2	2	0	1	2	5	2	5	2	3	5	0	2	3	5	2	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:43691705A>T	ENST00000395809.1	-	13	3939	c.1433T>A	c.(1432-1434)cTg>cAg	p.L478Q	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.L478Q|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.L486Q			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	478					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGCTCTGTTCAGAAGGGTGGT	0.597													27	66					0	0	0	0	T	43691705	A	T	43691705	3	4	269	1	0	0	0	0	1	0	0	0	13151	188	7	5	16	5	RASGEF1A	10	43691705	Missense_Mutation	SNP	A	TCGA-CV-6960-01A-41D-2012-08	25360020	43691705	91843042	109	47899											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648784	62648784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgggatttccagaattgCaggtgcctgcgggaaatcag	10	9	15	7	1	1	1	1	0	0	1	2	3	2	3	2	4	3	1	2	4	2	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:62648784C>T	ENST00000337910.5	-	6	979	c.642G>A	c.(640-642)ctG>ctA	p.L214L	RHOBTB1_ENST00000357917.4_Silent_p.L214L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	214					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TCCAGAATTGCAGGTGCCTGC	0.473													64	229					0	0	0	0	T	62648784	C	T	62648784	2	4	269	1	0	0	0	0	0	0	0	1	13416	697	25	4		4	RHOBTB1	10	62648784	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	18957079	62648784	72885963	110	47900											
SFTPA2	729238	broad.mit.edu	37	chr10	81319105	81319105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgacaccatctctcccGtccctgcctggcaggccgtg	4	10	9	18	2	1	1	0	1	1	0	4	1	3	1	6	2	1	1	6	2	0	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:81319105G>T	ENST00000372325.2	-	3	219	c.135C>A	c.(133-135)gaC>gaA	p.D45E	SFTPA2_ENST00000372327.5_Missense_Mutation_p.D45E	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	45	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	p.D45D(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CATCTCTCCCGTCCCTGCCTG	0.622									Pulmonary Fibrosis, Idiopathic				28	142					2.68265e-12	3.56704e-12	1	0	T	81319105	G	T	81319105	3	4	269	1	0	0	0	0	1	0	0	0	14277	1136	40	3	627	3	SFTPA2	10	81319105	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	18670321	81319105	54215642	111	47901											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118357567	118357567	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagcatttcaggttttggaAcgaaccaacagatgggtcat	13	11	10	7	1	2	1	2	0	0	1	2	3	2	2	1	3	4	2	1	3	4	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:118357567A>G	ENST00000528052.1	+	8	774	c.703A>G	c.(703-705)Acg>Gcg	p.T235A	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.T235A|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.T235A			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	235					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGGTTTTGGAACGAACCAACA	0.463													23	15					0	0	0	0	G	118357567	A	G	118357567	3	3	269	1	0	0	0	0	1	0	0	0	12222	43	2	5	729	5	PNLIPRP1	10	118357567	Missense_Mutation	SNP	A	TCGA-CV-6960-01A-41D-2012-08	37038462	118357567	17177180	112	47902											
TUBGCP2	10844	broad.mit.edu	37	chr10	135099030	135099030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctccaggccgctcagcgCcagctccgtggggtcggcgt	3	6	16	16	5	1	0	1	0	0	0	4	0	3	0	5	5	2	2	5	5	0	0	rs142228780	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:135099030C>T	ENST00000368563.2	-	12	2181	c.1825G>A	c.(1825-1827)Gcg>Acg	p.A609T	TUBGCP2_ENST00000368562.1_Missense_Mutation_p.A202T|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.A609T|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.A637T|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.A479T	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	609					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CCGCTCAGCGCCAGCTCCGTG	0.642													20	19					0	0	0	0	T	135099030	C	T	135099030	3	4	269	1	0	0	0	0	1	0	0	0	16862	739	26	4	911	4	TUBGCP2	10	135099030	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	16741463	135099030	435717	113	47903											
OR56B1	387748	broad.mit.edu	37	chr11	5758676	5758676	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaagaacttagggcagcCttccaaaaggtgctgtttgc	12	9	10	10	0	0	1	0	0	0	1	1	1	1	1	3	2	4	3	3	2	5	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:5758676C>T	ENST00000317121.3	+	1	996	c.930C>T	c.(928-930)gcC>gcT	p.A310A	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A310A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TTAGGGCAGCCTTCCAAAAGG	0.418													44	107					0	0	0	0	T	5758676	C	T	5758676	2	4	269	1	0	0	0	0	0	0	0	1	11208	668	24	4		4	OR56B1	11	5758676	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08		5758676	129247840	114	47904											
OR56A1	120796	broad.mit.edu	37	chr11	6048915	6048915	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggagctgttgctgggtGacgccataggctgaatcatg	8	10	15	8	1	1	2	1	2	0	0	1	3	1	3	1	3	2	4	1	3	2	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:6048915G>T	ENST00000316650.5	-	1	56	c.20C>A	c.(19-21)tCa>tAa	p.S7*		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGCTGGGTGACGCCATAGG	0.488													38	101					1.47197e-15	2.09539e-15	1	0	T	6048915	G	T	6048915	4	4	269	1	0	0	0	0	0	1	0	0	11204	1294	45	2	940	2	OR56A1	11	6048915	Nonsense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	290239	6048915	128957601	115	47905											
SLC5A12	159963	broad.mit.edu	37	chr11	26725200	26725200	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccaaaaagtgtgtcgcctGagaggatctacatcaaagct	13	9	10	9	1	2	1	1	1	1	1	4	3	3	2	2	1	2	1	2	1	4	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:26725200G>A	ENST00000396005.3	-	6	1008	c.699C>T	c.(697-699)ctC>ctT	p.L233L	SLC5A12_ENST00000280467.6_Silent_p.L233L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	233					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGTGTCGCCTGAGAGGATCTA	0.403													29	49					0	0	0	0	A	26725200	G	A	26725200	2	1	269	1	0	0	0	0	0	0	0	1	14752	1277	45	2		2	SLC5A12	11	26725200	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08	20676285	26725200	108281316	116	47906											
LRRC4C	57689	broad.mit.edu	37	chr11	40136945	40136945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttacagttccaagggttgtGatgtaaatgtatccgctcta	10	14	10	7	1	1	1	0	1	1	0	3	1	3	1	2	1	1	6	2	1	6	6			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:40136945G>C	ENST00000278198.2	-	2	2861	c.898C>G	c.(898-900)Cac>Gac	p.H300D	LRRC4C_ENST00000530763.1_Missense_Mutation_p.H300D|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H300D|LRRC4C_ENST00000528697.1_Missense_Mutation_p.H300D			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	300					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAAGGGTTGTGATGTAAATGT	0.478													32	62					0	0	0	0	C	40136945	G	C	40136945	3	2	269	1	0	0	0	0	1	0	0	0	9072	1290	45	2	1028	2	LRRC4C	11	40136945	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	13411745	40136945	94869571	117	47907											
PRDM11	56981	broad.mit.edu	37	chr11	45241231	45241231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggcctggggagtggctgcGggtctggtacagcgaggact	5	7	19	10	3	1	0	0	0	1	0	1	3	1	2	2	7	3	2	2	7	1	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:45241231G>A	ENST00000263765.4	+	7	1016	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	PRDM11_ENST00000528980.1_3'UTR|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Missense_Mutation_p.R222Q|PRDM11_ENST00000530656.1_Missense_Mutation_p.R256Q			Q9NQV5	PRD11_HUMAN	PR domain containing 11	256	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GAGTGGCTGCGGGTCTGGTAC	0.622													11	29					0	0	0	0	A	45241231	G	A	45241231	3	1	269	1	0	0	0	0	1	0	0	0	12532	1116	39	1	789	1	PRDM11	11	45241231	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	5104286	45241231	89765285	118	47908											
KBTBD4	55709	broad.mit.edu	37	chr11	47598968	47598971	+	Frame_Shift_Del	DEL	ATGA	ATGA	-																															cctccctaaacttacccgagAtgatatctgtgagtaagcgg																								rs149725159		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:47598968_47598971delATGA	ENST00000533290.1	-	1	1370_1373	c.656_659delTCAT	c.(655-660)acfs	p.II219fs	KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.II210fs|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.II194fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.II243fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.II194fs			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	194	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CTTACCCGAGATGATATCTGTGAG	0.5													25	76	---	---	---	---					-	47598971	ATGA	-	47598968	7	5	269	1	0	1	0	1	0	0	0	0	8048	333	12	0	984	0	KBTBD4	11	47598968	Frame_Shift_Del	DEL	ATGA	TCGA-CV-6960-01A-41D-2012-08	2357737	47598968	87407548	119	47909											
OR4A15	81328	broad.mit.edu	37	chr11	55136211	55136211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtcccctgtatcttCttgtatgcaaggcccaattc	6	17	6	12	0	3	0	0	0	3	0	5	0	4	0	3	1	1	3	3	1	4	7			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:55136211C>A	ENST00000314706.3	+	1	852	c.852C>A	c.(850-852)ttC>ttA	p.F284L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCTGTATCTTCTTGTATGCAA	0.408													51	214					5.39261e-20	8.05563e-20	1	0	A	55136211	C	A	55136211	3	1	269	1	0	0	0	0	1	0	0	0	11111	912	32	2	854	2	OR4A15	11	55136211	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	7537243	55136211	79870305	120	47910											
POLA2	23649	broad.mit.edu	37	chr11	65048604	65048604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagcttaaggaatattctCtgtttcctggacaggtgaga	10	13	11	7	0	1	2	0	2	1	1	3	5	2	4	1	3	1	2	1	3	3	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:65048604C>G	ENST00000265465.3	+	8	1417	c.886C>G	c.(886-888)Ctg>Gtg	p.L296V	POLA2_ENST00000541089.1_Missense_Mutation_p.L88V	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	296					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GGAATATTCTCTGTTTCCTGG	0.517													36	122					0	0	0	0	G	65048604	C	G	65048604	3	3	269	1	0	0	0	0	1	0	0	0	12260	912	32	2	916	2	POLA2	11	65048604	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	9912393	65048604	69957912	121	47911											
ADRBK1	156	broad.mit.edu	37	chr11	67051732	67051732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttccccctcaccatctcGgagcggtggcagcaggaggt	8	7	12	14	2	2	0	1	0	1	0	4	2	3	2	3	5	3	2	3	5	1	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:67051732G>A	ENST00000308595.5	+	18	1832	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	514	AGC-kinase C-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TCACCATCTCGGAGCGGTGGC	0.592													49	78					0	0	0	0	A	67051732	G	A	67051732	2	1	269	1	0	0	0	0	0	0	0	1	343	1103	39	1		1	ADRBK1	11	67051732	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08	2003128	67051732	67954784	122	47912											
NCAM1	4684	broad.mit.edu	37	chr11	113076802	113076802	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaacaactacctgcagatCcggggcatcaagaaaacaga	16	5	8	12	1	1	3	1	0	0	3	3	3	3	3	3	2	5	2	3	2	6	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:113076802C>A	ENST00000316851.7	+	4	498	c.498C>A	c.(496-498)atC>atA	p.I166I	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.I175I|NCAM1_ENST00000533760.1_Silent_p.I58I	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	176	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ACCTGCAGATCCGGGGCATCA	0.507													25	153					5.35356e-11	6.92813e-11	1	0	A	113076802	C	A	113076802	2	1	269	1	0	0	0	0	0	0	0	1	10272	845	30	2		2	NCAM1	11	113076802	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	46025070	113076802	21929714	123	47913											
ZW10	9183	broad.mit.edu	37	chr11	113639651	113639651	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctgcatgctaggcaggaaTtcactgtacttcttgctaat	9	14	8	10	0	3	0	1	0	2	0	3	1	3	1	0	2	4	5	0	2	4	6			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:113639651T>A	ENST00000200135.3	-	2	288	c.144A>T	c.(142-144)gaA>gaT	p.E48D		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	48	Interaction with RINT1.|Interaction with ZWINT.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TAGGCAGGAATTCACTGTACT	0.403													62	66					0	0	0	0	A	113639651	T	A	113639651	3	1	269	1	0	0	0	0	1	0	0	0	18338	1490	52	5	2255	5	ZW10	11	113639651	Missense_Mutation	SNP	T	TCGA-CV-6960-01A-41D-2012-08	562849	113639651	21366865	124	47914											
CEP164	22897	broad.mit.edu	37	chr11	117282544	117282544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctacagcactcccattcGcaagtccctgaggcgggcag	8	7	10	16	2	0	1	0	1	0	0	4	1	3	1	3	2	2	3	3	2	2	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:117282544G>A	ENST00000278935.3	+	32	4344	c.4197G>A	c.(4195-4197)tcG>tcA	p.S1399S	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1399					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTCCCATTCGCAAGTCCCTG	0.582													5	120					0	0	0	0	A	117282544	G	A	117282544	2	1	269	1	0	0	0	0	0	0	0	1	3278	1074	38	1		1	CEP164	11	117282544	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08	3642893	117282544	17723972	125	47915											
VPS11	55823	broad.mit.edu	37	chr11	118949031	118949033	+	In_Frame_Del	DEL	AGA	AGA	-																															actgcagaactgggcccacgAgaaggatccacaggtgaggc																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:118949031_118949033delAGA	ENST00000300793.6	+	12	1949_1951	c.1907_1909delAGA	c.(1906-1911)gag>g	p.EK636del	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	637				AH -> VI (in Ref. 2; BAA95163).	protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGGGCCCACGAGAAGGATCCACA	0.562													37	225	---	---	---	---					-	118949033	AGA	-	118949031	7	5	269	1	0	1	0	1	0	0	0	0	17284	304	11	0	1951	0	VPS11	11	118949031	In_Frame_Del	DEL	AGA	TCGA-CV-6960-01A-41D-2012-08	1666487	118949031	16057485	126	47916											
NTM	50863	broad.mit.edu	37	chr11	132016264	132016264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgacaagtggtgcctggatCctcgcgtggtccttctgagc	6	11	13	11	2	1	2	0	2	1	0	4	3	3	3	3	3	2	0	3	3	1	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:132016264C>T	ENST00000374786.1	+	2	735	c.256C>T	c.(256-258)Cct>Tct	p.P86S	NTM_ENST00000374791.3_Missense_Mutation_p.P86S|NTM_ENST00000425719.2_Missense_Mutation_p.P86S|NTM_ENST00000374784.1_Missense_Mutation_p.P86S|NTM_ENST00000539799.1_Missense_Mutation_p.P86S|NTM_ENST00000427481.2_Missense_Mutation_p.P77S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	86	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTGCCTGGATCCTCGCGTGGT	0.572													21	71					0	0	0	0	T	132016264	C	T	132016264	3	4	269	1	0	0	0	0	1	0	0	0	10770	855	30	2	348	2	NTM	11	132016264	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	13067233	132016264	2990252	127	47917											
DYRK4	8798	broad.mit.edu	37	chr12	4721873	4721873	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggttcaaggctgtcatcactCgagcagaaaaggtacagcct	12	8	11	10	1	3	1	3	0	0	1	4	2	3	1	1	3	3	4	1	3	4	2	rs141423818	by1000genomes	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:4721873C>G	ENST00000540757.2	+	12	1470	c.1310C>G	c.(1309-1311)tCg>tGg	p.S437W	DYRK4_ENST00000543431.1_Missense_Mutation_p.S437W|DYRK4_ENST00000010132.5_Missense_Mutation_p.S437W|DYRK4_ENST00000545342.1_Missense_Mutation_p.S74W	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	437						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TGTCATCACTCGAGCAGAAAA	0.468													42	49					0	0	0	0	G	4721873	C	G	4721873	3	3	269	1	0	0	0	0	1	0	0	0	4894	893	31	3	1348	3	DYRK4	12	4721873	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08		4721873	129130022	128	47918											
CD27	939	broad.mit.edu	37	chr12	6559460	6559466	+	Frame_Shift_Del	DEL	TCGGTCG	TCGGTCG	-																															ccaaacccttcgctgaccgcTcggtcgtctcaggccctgag																								rs150578547	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:6559460_6559466delTCGGTCG	ENST00000266557.3	+	3	619_625	c.390_396delTCGGTCG	c.(388-396)gcfs	p.ARS130fs	CD27_ENST00000541233.1_3'UTR|CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233.1	P26842	CD27_HUMAN	CD27 molecule	130					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity	p.R131W(1)|p.S132S(1)		kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CGCTGACCGCTCGGTCGTCTCAGGCCC	0.585													17	56	---	---	---	---					-	6559466	TCGGTCG	-	6559460	7	5	269	1	0	1	0	1	0	0	0	0	3019	1538	54	0	400	0	CD27	12	6559460	Frame_Shift_Del	DEL	TCGGTCG	TCGA-CV-6960-01A-41D-2012-08	1837587	6559460	127292435	129	47919											
TPI1	7167	broad.mit.edu	37	chr12	6976735	6976735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggctccagcgccatggCgccctccaggaagttcttcg	5	8	11	17	4	1	0	0	0	1	0	5	1	3	1	5	3	1	2	5	3	1	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:6976735C>T	ENST00000229270.4	+	1	453	c.116C>T	c.(115-117)gCg>gTg	p.A39V	TPI1_ENST00000396705.5_Missense_Mutation_p.A2V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	2					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						AGCGCCATGGCGCCCTCCAGG	0.642													8	18					0	0	0	0	T	6976735	C	T	6976735	3	4	269	1	0	0	0	0	1	0	0	0	16498	768	27	1	118	1	TPI1	12	6976735	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	417275	6976735	126875160	130	47920											
DPPA3	359787	broad.mit.edu	37	chr12	7864234	7864234	+	Frame_Shift_Del	DEL	C	C	-																															aatgctcaccgaagaaaattCccgggacgattcaggtaagc																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:7864234delC	ENST00000345088.2	+	1	185	c.68delC	c.(67-69)tcfs	p.S23fs		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	23						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAAGAAAATTCCCGGGACGAT	0.468													13	19	---	---	---	---					-	7864234	C	-	7864234	7	5	269	1	0	1	0	1	0	0	0	0	4771	855	30	0	70	0	DPPA3	12	7864234	Frame_Shift_Del	DEL	C	TCGA-CV-6960-01A-41D-2012-08	887499	7864234	125987661	131	47921											
ARID2	196528	broad.mit.edu	37	chr12	46215209	46215209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatttgttttttagctttagGatccttttccactgtatttg	6	23	6	6	0	0	0	0	0	0	0	2	1	2	1	2	1	1	3	2	1	4	11			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:46215209G>T	ENST00000334344.6	+	6	816	c.644G>T	c.(643-645)gGa>gTa	p.G215V	ARID2_ENST00000422737.1_Missense_Mutation_p.G66V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	215					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTAGCTTTAGGATCCTTTTCC	0.254			"N, S, F"		hepatocellular carcinoma								13	56					9.05144e-12	1.18403e-11	1	0	T	46215209	G	T	46215209	3	4	269	1	0	0	0	0	1	0	0	0	917	1174	41	2	666	2	ARID2	12	46215209	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	38350975	46215209	87636686	132	47922											
SDR9C7	121214	broad.mit.edu	37	chr12	57323300	57323300	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatagttccctggctcaaTgatgcagactttcaccccaa	10	10	7	14	1	2	2	2	1	0	1	3	3	3	2	4	1	1	3	4	1	3	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:57323300T>C	ENST00000293502.1	-	3	741	c.598A>G	c.(598-600)Att>Gtt	p.I200V		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	200						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CCTGGCTCAATGATGCAGACT	0.552													31	33					0	0	0	0	C	57323300	T	C	57323300	3	2	269	1	0	0	0	0	1	0	0	0	14061	1464	51	5	351	5	SDR9C7	12	57323300	Missense_Mutation	SNP	T	TCGA-CV-6960-01A-41D-2012-08	11108091	57323300	76528595	133	47923											
LRP1	4035	broad.mit.edu	37	chr12	57550688	57550688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagcctgggcagtgacGggaagtcatgcaagagtgag	10	7	16	8	1	2	3	2	2	0	1	2	4	2	4	1	2	2	3	1	2	2	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:57550688G>A	ENST00000243077.3	+	10	2012	c.1546G>A	c.(1546-1548)Ggg>Agg	p.G516R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	516	EGF-like 3.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGCAGTGACGGGAAGTCATG	0.657													3	10					0	0	0	0	A	57550688	G	A	57550688	3	1	269	1	0	0	0	0	1	0	0	0	9015	1116	39	1	1584	1	LRP1	12	57550688	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	227388	57550688	76301207	134	47924											
RBM19	9904	broad.mit.edu	37	chr12	114261056	114261056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggtctgctcctcgctGtcgctgtcactgccttccag	4	12	11	14	2	2	1	1	1	1	0	6	1	4	1	3	1	2	3	3	1	1	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:114261056G>A	ENST00000545145.2	-	24	2934	c.2856C>T	c.(2854-2856)gaC>gaT	p.D952D	RBM19_ENST00000261741.5_Silent_p.D952D|RBM19_ENST00000392561.3_Silent_p.D952D	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	952					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTCCTCGCTGTCGCTGTCAC	0.637													16	32					0	0	0	0	A	114261056	G	A	114261056	2	1	269	1	0	0	0	0	0	0	0	1	13203	1368	48	4		4	RBM19	12	114261056	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08	56710368	114261056	19590839	135	47925											
GTF2H3	2967	broad.mit.edu	37	chr12	124132650	124132650	+	Frame_Shift_Del	DEL	A	A	-																															aaatgaagttattgttgaagAgattaaagatctaatgacca																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:124132650delA	ENST00000543341.2	+	4	372	c.341delA	c.(340-342)ggfs	p.E114fs	GTF2H3_ENST00000228955.7_Frame_Shift_Del_p.E73fs	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	114					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		ATTGTTGAAGAGATTAAAGAT	0.348								Nucleotide excision repair (NER)					25	45	---	---	---	---					-	124132650	A	-	124132650	7	5	269	1	0	1	0	1	0	0	0	0	6914	304	11	0	355	0	GTF2H3	12	124132650	Frame_Shift_Del	DEL	A	TCGA-CV-6960-01A-41D-2012-08	9871594	124132650	9719245	136	47926											
DCLK1	9201	broad.mit.edu	37	chr13	36700222	36700222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcggctgtatctctgcGccttatcccgctcgtcgaag	5	11	9	16	5	1	0	0	0	1	0	6	1	2	0	3	1	1	3	3	1	3	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:36700222G>A	ENST00000255448.4	-	2	264	c.53C>T	c.(52-54)gCg>gTg	p.A18V	DCLK1_ENST00000379892.4_Missense_Mutation_p.A18V|DCLK1_ENST00000360631.3_Missense_Mutation_p.A18V	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	18					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTATCTCTGCGCCTTATCCCG	0.622													25	41					0	0	0	0	A	36700222	G	A	36700222	3	1	269	1	0	0	0	0	1	0	0	0	4323	1087	38	1	2204	1	DCLK1	13	36700222	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08		36700222	78469656	137	47927											
SPERT	220082	broad.mit.edu	37	chr13	46288501	46288501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaccccaagaagcctagcagGgtctgaggcctcggccttgc	8	6	13	14	1	1	2	0	1	1	1	2	3	1	2	5	3	3	1	5	3	3	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:46288501G>T	ENST00000378966.3	+	2	1649	c.1233G>T	c.(1231-1233)agG>agT	p.R411S	SPERT_ENST00000310521.1_Missense_Mutation_p.R447S			Q8NA61	SPERT_HUMAN	spermatid associated	447						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGCCTAGCAGGGTCTGAGGCC	0.622													6	7					3.59834e-05	3.94026e-05	1	0	T	46288501	G	T	46288501	3	4	269	1	0	0	0	0	1	0	0	0	15129	1223	43	4	1351	4	SPERT	13	46288501	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	9588279	46288501	68881377	138	47928											
SLITRK5	26050	broad.mit.edu	37	chr13	88328994	88328994	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctcgatgatccaggacCgcgctttcggggatctcacc	7	9	11	14	4	2	1	1	1	2	0	6	4	3	3	3	3	0	2	3	3	0	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:88328994C>A	ENST00000325089.6	+	2	1570	c.1351C>A	c.(1351-1353)Cgc>Agc	p.R451S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R210S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	451						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GATCCAGGACCGCGCTTTCGG	0.597													35	21					9.65963e-10	1.19879e-09	1	0	A	88328994	C	A	88328994	3	1	269	1	0	0	0	0	1	0	0	0	14834	652	23	3	1353	3	SLITRK5	13	88328994	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	42040493	88328994	26840884	139	47929											
GPC5	2262	broad.mit.edu	37	chr13	92345880	92345880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagagccctcctgaagatGcaatactgcccgcactgcca	11	6	9	15	1	0	3	0	1	0	2	1	3	1	3	4	0	6	3	4	0	3	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:92345880G>C	ENST00000377067.3	+	3	1137	c.765G>C	c.(763-765)atG>atC	p.M255I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	255						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCCTGAAGATGCAATACTGCC	0.552													30	25					0	0	0	0	C	92345880	G	C	92345880	3	2	269	1	0	0	0	0	1	0	0	0	6650	1319	46	4	775	4	GPC5	13	92345880	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	4016886	92345880	22823998	140	47930											
GPC5	2262	broad.mit.edu	37	chr13	93518663	93518663	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacattcactctgataagtGtggtgatgttacttcccggg	8	14	11	8	1	2	3	1	3	1	0	3	3	3	3	1	2	1	1	1	2	2	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:93518663G>C	ENST00000377067.3	+	8	2062	c.1690G>C	c.(1690-1692)Gtg>Ctg	p.V564L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	564						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCTGATAAGTGTGGTGATGTT	0.433													55	31					0	0	0	0	C	93518663	G	C	93518663	3	2	269	1	0	0	0	0	1	0	0	0	6650	1377	48	4	1720	4	GPC5	13	93518663	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	1172783	93518663	21651215	141	47931											
FAM155A	728215	broad.mit.edu	37	chr13	107822853	107822853	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtccttccgttactcctCattggttgagttttcttcca	4	18	6	13	2	2	1	1	1	1	0	7	1	6	1	4	1	1	3	4	1	1	7			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:107822853C>A	ENST00000375915.2	-	3	1507	c.1369G>T	c.(1369-1371)Gag>Tag	p.E457*		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	457						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CGTTACTCCTCATTGGTTGAG	0.522													31	19					2.61193e-14	3.63269e-14	1	0	A	107822853	C	A	107822853	4	1	269	1	0	0	0	0	0	1	0	0	5506	835	29	2	11	2	FAM155A	13	107822853	Nonsense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	14304190	107822853	7347025	142	47932											
NPAS3	64067	broad.mit.edu	37	chr14	34243588	34243588	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagagtgtcgctgtccCacgggaggaccgtccccagc	6	6	14	15	3	0	1	0	1	0	1	3	4	2	3	5	2	1	1	5	2	0	0			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:34243588C>A	ENST00000346562.2	+	7	876	c.802C>A	c.(802-804)Cac>Aac	p.H268N	NPAS3_ENST00000551492.1_Missense_Mutation_p.H305N|NPAS3_ENST00000548645.1_Missense_Mutation_p.H270N|NPAS3_ENST00000357798.5_Missense_Mutation_p.H287N|NPAS3_ENST00000356141.4_Missense_Mutation_p.H300N	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTCGCTGTCCCACGGGAGGAC	0.498													22	73					1.50039e-11	1.95212e-11	1	0	A	34243588	C	A	34243588	3	1	269	1	0	0	0	0	1	0	0	0	10634	594	21	4	983	4	NPAS3	14	34243588	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08		34243588	73105952	143	47933											
FSCB	84075	broad.mit.edu	37	chr14	44974135	44974135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tataggagtctcctcagctgGtagagactgaacttcagcag	11	10	11	9	0	3	2	2	1	1	1	4	4	3	3	1	2	3	3	1	2	4	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:44974135G>A	ENST00000340446.4	-	1	2347	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	686						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCCTCAGCTGGTAGAGACTGA	0.597													14	16					0	0	0	0	A	44974135	G	A	44974135	3	1	269	1	0	0	0	0	1	0	0	0	6114	1261	44	4	425	4	FSCB	14	44974135	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	10730547	44974135	62375405	144	47934											
TRIM9	114088	broad.mit.edu	37	chr14	51464789	51464789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagacgtttggaggaccaGggtcttgctgtacgggctga	7	10	15	9	2	2	2	1	1	1	1	2	4	2	4	1	4	2	4	1	4	1	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:51464789G>A	ENST00000298355.3	-	7	2703	c.1582C>T	c.(1582-1584)Ctg>Ttg	p.L528L	TRIM9_ENST00000338969.5_Silent_p.L524L|TRIM9_ENST00000360392.4_Silent_p.L528L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	528	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGGAGGACCAGGGTCTTGCTG	0.552													13	42					0	0	0	0	A	51464789	G	A	51464789	2	1	269	1	0	0	0	0	0	0	0	1	16644	991	35	4		4	TRIM9	14	51464789	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08	6490654	51464789	55884751	145	47935											
HIF1A	3091	broad.mit.edu	37	chr14	62204929	62204929	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattacccaccgctgaaacGccaaagccacttcgaagtag	13	6	7	15	3	0	1	0	1	0	0	1	2	0	1	5	0	3	2	5	0	5	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:62204929G>A	ENST00000394997.1	+	10	1642	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	HIF1A_ENST00000323441.6_Silent_p.T458T|HIF1A_ENST00000557538.1_Silent_p.T399T|HIF1A_ENST00000337138.4_Silent_p.T458T|HIF1A-AS2_ENST00000554254.1_lincRNA|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000539097.1_Silent_p.T482T			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	458	ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		CCGCTGAAACGCCAAAGCCAC	0.403													49	81					0	0	0	0	A	62204929	G	A	62204929	2	1	269	1	0	0	0	0	0	0	0	1	7153	1074	38	1		1	HIF1A	14	62204929	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08	10740140	62204929	45144611	146	47936											
ACTN1	87	broad.mit.edu	37	chr14	69345204	69345204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccatggagatcaggcaggCgcggaaatcatccgtgtcca	11	6	12	12	3	2	1	2	0	0	1	4	3	4	2	3	4	0	1	3	4	1	0			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:69345204C>T	ENST00000394419.4	-	20	2580	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	ACTN1_ENST00000376839.3_Missense_Mutation_p.A708T|ACTN1_ENST00000193403.6_Intron|ACTN1_ENST00000538545.2_Missense_Mutation_p.A773T|ACTN1_ENST00000438964.2_Missense_Mutation_p.A773T	NM_001130004.1	NP_001123476.1	P12814	ACTN1_HUMAN	actinin, alpha 1	787	EF-hand 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)		ATCAGGCAGGCGCGGAAATCA	0.602													17	24					0	0	0	0	T	69345204	C	T	69345204	3	4	269	1	0	0	0	0	1	0	0	0	204	768	27	1	358	1	ACTN1	14	69345204	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	7140275	69345204	38004336	147	47937											
SIPA1L1	26037	broad.mit.edu	37	chr14	72175990	72175990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatactctctccagcaatGcgtcaagtgcccatagtgat	11	10	8	12	1	2	1	1	1	1	0	4	1	3	1	2	0	4	2	2	0	5	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:72175990G>A	ENST00000555818.1	+	15	4228	c.3880G>A	c.(3880-3882)Gcg>Acg	p.A1294T	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A1273T|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A1273T|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A748T	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1294	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCAGCAATGCGTCAAGTGC	0.483													17	56					0	0	0	0	A	72175990	G	A	72175990	3	1	269	1	0	0	0	0	1	0	0	0	14417	1319	46	4	3934	4	SIPA1L1	14	72175990	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	2830786	72175990	35173550	148	47938											
EML5	161436	broad.mit.edu	37	chr14	89088975	89088975	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcacacagaacgaacacaAtctgtggcttgtcctgtctc	10	10	8	13	1	2	1	0	0	2	1	4	2	3	1	1	1	3	2	1	1	3	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:89088975A>G	ENST00000554922.1	-	37	5234	c.4986T>C	c.(4984-4986)gaT>gaC	p.D1662D	EML5_ENST00000380664.5_Silent_p.D1654D|EML5_ENST00000352093.5_Silent_p.D1616D|EML5_ENST00000553320.1_Intron	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1654						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AACGAACACAATCTGTGGCTT	0.473													23	55					0	0	0	0	G	89088975	A	G	89088975	2	3	269	1	0	0	0	0	0	0	0	1	5138	98	4	5		5	EML5	14	89088975	Silent	SNP	A	TCGA-CV-6960-01A-41D-2012-08	16912985	89088975	18260565	149	47939											
RIN3	79890	broad.mit.edu	37	chr14	93151468	93151468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccggcgtactctcaacaaGgcccgggcctcccgctcctc	5	6	10	20	5	1	0	1	0	1	0	5	0	3	0	5	3	2	2	5	3	3	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:93151468G>A	ENST00000216487.7	+	9	2763	c.2604G>A	c.(2602-2604)aaG>aaA	p.K868K	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	868					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTCTCAACAAGGCCCGGGCCT	0.662													10	33					0	0	0	0	A	93151468	G	A	93151468	2	1	269	1	0	0	0	0	0	0	0	1	13458	991	35	4		4	RIN3	14	93151468	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08	4062493	93151468	14198072	150	47940											
SERPINA1	5265	broad.mit.edu	37	chr14	94845935	94845935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggacagtttgggtaaatGtaagctggcagacctgtcgt	11	11	13	6	1	0	1	0	0	0	1	1	2	0	2	1	3	1	5	1	3	4	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:94845935G>T	ENST00000448921.1	-	6	1503	c.931C>A	c.(931-933)Cat>Aat	p.H311N	SERPINA1_ENST00000402629.1_Missense_Mutation_p.H311N|SERPINA1_ENST00000393087.4_Missense_Mutation_p.H311N|SERPINA1_ENST00000355814.4_Missense_Mutation_p.H311N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.H311N|SERPINA1_ENST00000449399.3_Missense_Mutation_p.H311N|SERPINA1_ENST00000404814.4_Missense_Mutation_p.H311N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.H311N|SERPINA1_ENST00000393088.4_Missense_Mutation_p.H311N	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	311					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TTGGGTAAATGTAAGCTGGCA	0.493													30	80					5.60225e-13	7.61654e-13	1	0	T	94845935	G	T	94845935	3	4	269	1	0	0	0	0	1	0	0	0	14173	1377	48	4	333	4	SERPINA1	14	94845935	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	1694467	94845935	12503605	151	47941											
SERPINA5	5104	broad.mit.edu	37	chr14	95054055	95054055	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagctccttcaggaactcaAccagcccagagatggcttcc	10	7	9	15	0	2	1	2	0	0	1	4	3	4	2	4	2	4	3	4	2	2	2	rs144727156	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:95054055A>T	ENST00000329597.7	+	3	566	c.356A>T	c.(355-357)aAc>aTc	p.N119I	SERPINA5_ENST00000554276.1_Missense_Mutation_p.N119I|SERPINA5_ENST00000553780.1_Missense_Mutation_p.N119I|SERPINA5_ENST00000554866.1_Missense_Mutation_p.N119I	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	119					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CAGGAACTCAACCAGCCCAGA	0.567													11	22					0	0	0	0	T	95054055	A	T	95054055	3	4	269	1	0	0	0	0	1	0	0	0	14179	43	2	5	358	5	SERPINA5	14	95054055	Missense_Mutation	SNP	A	TCGA-CV-6960-01A-41D-2012-08	208120	95054055	12295485	152	47942											
APBA2	321	broad.mit.edu	37	chr15	29346999	29346999	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcttcaagcccaagacCaggaccccagaagagaggct	14	3	12	12	0	1	4	1	0	0	4	1	6	1	5	4	3	1	2	4	3	3	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr15:29346999C>T	ENST00000558402.1	+	5	1511	c.912C>T	c.(910-912)acC>acT	p.T304T	APBA2_ENST00000411764.1_Silent_p.T304T|APBA2_ENST00000558330.1_Silent_p.T304T|APBA2_ENST00000561069.1_Silent_p.T304T|APBA2_ENST00000558259.1_Silent_p.T304T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	304					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGCCCAAGACCAGGACCCCAG	0.677													5	24					0	0	0	0	T	29346999	C	T	29346999	2	4	269	1	0	0	0	0	0	0	0	1	758	581	21	4		4	APBA2	15	29346999	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08		29346999	73184393	153	47943											
VPS13C	54832	broad.mit.edu	37	chr15	62167104	62167104	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccaaagaggcttctcactCcaatcactaacccctctgca	11	9	5	16	0	3	1	2	0	2	1	6	1	5	1	4	1	2	2	4	1	3	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr15:62167104C>A	ENST00000261517.5	-	77	10458	c.10385G>T	c.(10384-10386)gGa>gTa	p.G3462V	VPS13C_ENST00000249837.3_Missense_Mutation_p.G3419V|VPS13C_ENST00000395898.3_Missense_Mutation_p.G3419V|VPS13C_ENST00000395896.4_Missense_Mutation_p.G3462V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3462					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCTTCTCACTCCAATCACTAA	0.303													13	18					1.96292e-10	2.46128e-10	1	0	A	62167104	C	A	62167104	3	1	269	1	0	0	0	0	1	0	0	0	17287	855	30	2	940	2	VPS13C	15	62167104	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	32820105	62167104	40364288	154	47944											
DCUN1D3	123879	broad.mit.edu	37	chr16	20873495	20873495	+	Silent	SNP	G	G	T																															agcagcactcgaaattctgtGgggtcaacacacaggtcatt																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:20873495G>T	ENST00000324344.3	-	2	651	c.366C>A	c.(364-366)ccC>ccA	p.P122P	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Silent_p.P122P	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	122	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GAAATTCTGTGGGGTCAACAC	0.483													31	90					3.80469e-20	5.7546e-20	1	0	T	20873495	G	T	20873495	2	4	269	1	0	0	0	0	0	0	0	1	4347	1335	47	4		4	DCUN1D3	16	20873495	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08		20873495	69481258	155	47945	364	2									
DCUN1D3	123879	broad.mit.edu	37	chr16	20873496	20873496	+	Missense_Mutation	SNP	G	G	T																															gcagcactcgaaattctgtgGggtcaacacacaggtcattg																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:20873496G>T	ENST00000324344.3	-	2	650	c.365C>A	c.(364-366)cCc>cAc	p.P122H	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.P122H	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	122	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AAATTCTGTGGGGTCAACACA	0.488													31	91					3.80469e-20	5.7546e-20	1	0	T	20873496	G	T	20873496	3	4	269	1	0	0	0	0	1	0	0	0	4347	1232	43	4	557	4	DCUN1D3	16	20873496	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	1	20873496	69481257	156	47946	364	2									
N4BP1	9683	broad.mit.edu	37	chr16	48595684	48595684	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcgtatgcctttcttcAgaatcagaaaatctcctttt	9	18	4	10	1	5	2	2	0	3	2	7	2	5	2	2	0	1	1	2	0	4	7			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:48595684A>G	ENST00000262384.3	-	2	1106	c.870T>C	c.(868-870)tcT>tcC	p.S290S	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	290					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GCCTTTCTTCAGAATCAGAAA	0.408													19	46					0	0	0	0	G	48595684	A	G	48595684	2	3	269	1	0	0	0	0	0	0	0	1	10179	175	7	5		5	N4BP1	16	48595684	Silent	SNP	A	TCGA-CV-6960-01A-41D-2012-08	27722188	48595684	41759069	157	47947											
CPNE2	221184	broad.mit.edu	37	chr16	57144698	57144698	+	Frame_Shift_Del	DEL	C	C	-																															tgccccagcagcgggggcagCccccatgggcccccagtatt																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:57144698delC	ENST00000535318.2	+	3	405	c.44delC	c.(43-45)gcfs	p.A15fs	CPNE2_ENST00000565874.1_Frame_Shift_Del_p.A15fs|CPNE2_ENST00000537605.1_5'UTR|CPNE2_ENST00000290776.8_Frame_Shift_Del_p.A15fs			Q96FN4	CPNE2_HUMAN	copine II	15	C2 1.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GCGGGGGCAGCCCCCATGGGC	0.642													16	57	---	---	---	---					-	57144698	C	-	57144698	7	5	269	1	0	1	0	1	0	0	0	0	3842	739	26	0	46	0	CPNE2	16	57144698	Frame_Shift_Del	DEL	C	TCGA-CV-6960-01A-41D-2012-08	8549014	57144698	33210055	158	47948											
SLC12A4	6560	broad.mit.edu	37	chr16	67984561	67984561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcccagctcactcacttgtCccggagaaccacaccctcaa	10	6	7	18	1	3	1	3	0	0	1	4	2	4	1	4	2	2	1	4	2	2	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:67984561C>T	ENST00000422611.2	-	10	1495	c.1456G>A	c.(1456-1458)Gac>Aac	p.D486N	SLC12A4_ENST00000316341.3_Missense_Mutation_p.D484N|SLC12A4_ENST00000576616.1_Missense_Mutation_p.D484N|SLC12A4_ENST00000338335.3_Missense_Mutation_p.D484N|SLC12A4_ENST00000541864.2_Missense_Mutation_p.D453N|SLC12A4_ENST00000537830.2_Missense_Mutation_p.D478N|SLC12A4_ENST00000572037.1_Missense_Mutation_p.D436N	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	484					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACTCACTTGTCCCGGAGAACC	0.632													3	15					0	0	0	0	T	67984561	C	T	67984561	3	4	269	1	0	0	0	0	1	0	0	0	14473	855	30	2	1863	2	SLC12A4	16	67984561	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	10839863	67984561	22370192	159	47949											
ATP2C2	9914	broad.mit.edu	37	chr16	84492912	84492912	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcatcactctgtccacCgtgttcaacctgcccagccc	7	10	6	18	1	4	0	3	0	2	0	6	0	5	0	5	0	3	1	5	0	1	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:84492912C>T	ENST00000416219.2	+	23	2342	c.2253C>T	c.(2251-2253)acC>acT	p.T751T	RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000262429.4_Silent_p.T751T|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	751					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTCTGTCCACCGTGTTCAACC	0.642													26	73					0	0	0	0	T	84492912	C	T	84492912	2	4	269	1	0	0	0	0	0	0	0	1	1148	639	23	1		1	ATP2C2	16	84492912	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	16508351	84492912	5861841	160	47950											
TP53	7157	broad.mit.edu	37	chr17	7577142	7577142	+	Nonsense_Mutation	SNP	C	C	A																															cacctcaaagctgttccgtcCcagtagattaccactactca																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr17:7577142C>A	ENST00000420246.2	-	8	928	c.796G>T	c.(796-798)Gga>Tga	p.G266*	TP53_ENST00000359597.4_Nonsense_Mutation_p.G266*|TP53_ENST00000455263.2_Nonsense_Mutation_p.G266*|TP53_ENST00000269305.4_Nonsense_Mutation_p.G266*|TP53_ENST00000445888.2_Nonsense_Mutation_p.G266*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGTTCCGTCCCAGTAGATTA	0.517		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	13					5.18039e-06	5.71296e-06	1	0	A	7577142	C	A	7577142	4	1	269	1	0	0	0	0	0	1	0	0	16476	632	22	4	490	4	TP53	17	7577142	Nonsense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08		7577142	73618068	161	47951	365	2									
TP53	7157	broad.mit.edu	37	chr17	7577143	7577143	+	Silent	SNP	C	C	A																															acctcaaagctgttccgtccCagtagattaccactactcag																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:7577143C>A	ENST00000420246.2	-	8	927	c.795G>T	c.(793-795)ctG>ctT	p.L265L	TP53_ENST00000359597.4_Silent_p.L265L|TP53_ENST00000455263.2_Silent_p.L265L|TP53_ENST00000269305.4_Silent_p.L265L|TP53_ENST00000445888.2_Silent_p.L265L|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.L265L(2)|p.L265P(1)|p.N263fs*5(1)|p.L265_K305del41(1)|p.G266fs*9(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGTTCCGTCCCAGTAGATTAC	0.522		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	13					5.18039e-06	5.77721e-06	1	0	A	7577143	C	A	7577143	2	1	269	1	0	0	0	0	0	0	0	1	16476	581	21	4		4	TP53	17	7577143	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	1	7577143	73618067	162	47952	365	2									
ARHGEF15	22899	broad.mit.edu	37	chr17	8215500	8215500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctccacaagaactaccccGaaactccaatgatgcaccaa	15	6	4	16	1	1	2	0	1	1	1	3	3	2	2	5	0	4	1	5	0	6	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:8215500G>A	ENST00000361926.3	+	2	253	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R48Q	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	48	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R48Q(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GAACTACCCCGAAACTCCAAT	0.632													50	97					0	0	0	0	A	8215500	G	A	8215500	3	1	269	1	0	0	0	0	1	0	0	0	900	1058	37	1	145	1	ARHGEF15	17	8215500	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	638357	8215500	72979710	163	47953											
MYH1	4619	broad.mit.edu	37	chr17	10402040	10402040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccttggacattgctctctGtagctcggccttggcttcct	3	14	11	13	1	1	0	0	0	1	0	4	1	2	1	3	4	2	4	3	4	1	5			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:10402040G>T	ENST00000226207.5	-	30	4178	c.4084C>A	c.(4084-4086)Cag>Aag	p.Q1362K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1362						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATTGCTCTCTGTAGCTCGGCC	0.592													41	85					4.14481e-20	6.23008e-20	1	0	T	10402040	G	T	10402040	3	4	269	1	0	0	0	0	1	0	0	0	10099	1386	48	4	1779	4	MYH1	17	10402040	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	2186540	10402040	70793170	164	47954											
MYO15A	51168	broad.mit.edu	37	chr17	18067125	18067125	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccctgaggccttcaatgaaTatgttatcttcgttgtcacc	8	14	8	11	1	3	2	2	2	1	0	4	2	3	2	3	1	0	2	3	1	4	5			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:18067125T>A	ENST00000205890.5	+	60	10098	c.9760T>A	c.(9760-9762)Tat>Aat	p.Y3254N	MYO15A_ENST00000418233.3_Missense_Mutation_p.Y518N|MYO15A_ENST00000451725.2_Missense_Mutation_p.Y146N	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3254	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTCAATGAATATGTTATCTT	0.597													7	17					0	0	0	0	A	18067125	T	A	18067125	3	1	269	1	0	0	0	0	1	0	0	0	10133	1406	49	5	9990	5	MYO15A	17	18067125	Missense_Mutation	SNP	T	TCGA-CV-6960-01A-41D-2012-08	7665085	18067125	63128085	165	47955											
PSMD11	5717	broad.mit.edu	37	chr17	30801833	30801833	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttgcacttcggtatgcAgggaggcaggtagggactcc	9	8	15	9	1	0	0	0	0	0	0	2	2	1	2	1	5	3	6	1	5	3	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:30801833A>G	ENST00000261712.3	+	8	1103	c.840A>G	c.(838-840)gcA>gcG	p.A280A	PSMD11_ENST00000457654.2_Silent_p.A280A	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	280	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			TTCGGTATGCAGGGAGGCAGG	0.488													3	47					0	0	0	0	G	30801833	A	G	30801833	2	3	269	1	0	0	0	0	0	0	0	1	12773	175	7	5		5	PSMD11	17	30801833	Silent	SNP	A	TCGA-CV-6960-01A-41D-2012-08	12734708	30801833	50393377	166	47956											
MED13	9969	broad.mit.edu	37	chr17	60028197	60028197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaataccttaagaaaaaGgggacactgatattgtgctt	14	11	10	6	0	0	2	0	1	0	1	0	3	0	3	1	3	2	2	1	3	6	5			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:60028197G>T	ENST00000397786.2	-	28	6356	c.6280C>A	c.(6280-6282)Ctt>Att	p.L2094I		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2094					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTAAGAAAAAGGGGACACTGA	0.413													4	72					0.00024832	0.0002659	1	0	T	60028197	G	T	60028197	3	4	269	1	0	0	0	0	1	0	0	0	9499	1000	35	4	256	4	MED13	17	60028197	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	29226364	60028197	21167013	167	47957											
TAF4B	6875	broad.mit.edu	37	chr18	23873435	23873435	+	Missense_Mutation	SNP	C	C	T																															gcctggaaataaaattctgtCacttcaagcatctcctactc																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr18:23873435C>T	ENST00000269142.5	+	9	2770	c.1772C>T	c.(1771-1773)tCa>tTa	p.S591L	TAF4B_ENST00000400466.2_Missense_Mutation_p.S591L|TAF4B_ENST00000578121.1_Missense_Mutation_p.S596L	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	591					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AAAATTCTGTCACTTCAAGCA	0.289													9	13					0	0	0	0	T	23873435	C	T	23873435	3	4	269	1	0	0	0	0	1	0	0	0	15618	838	29	2	1806	2	TAF4B	18	23873435	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08		23873435	54203813	168	47958	366	2									
TAF4B	6875	broad.mit.edu	37	chr18	23873440	23873440	+	Nonsense_Mutation	SNP	C	C	T																															gaaataaaattctgtcacttCaagcatctcctactcagaaa																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr18:23873440C>T	ENST00000269142.5	+	9	2775	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	TAF4B_ENST00000400466.2_Nonsense_Mutation_p.Q593*|TAF4B_ENST00000578121.1_Nonsense_Mutation_p.Q598*	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	593					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCTGTCACTTCAAGCATCTCC	0.284													10	14					0	0	0	0	T	23873440	C	T	23873440	4	4	269	1	0	0	0	0	0	1	0	0	15618	827	29	2	1811	2	TAF4B	18	23873440	Nonsense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	5	23873440	54203808	169	47959	366	2									
CDH19	28513	broad.mit.edu	37	chr18	64172320	64172320	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaacttgcaaagactgcCtgtataggctcctgatctca	10	10	9	12	0	1	2	1	1	1	1	3	2	2	2	3	2	3	3	3	2	4	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr18:64172320C>G	ENST00000262150.2	-	12	2340	c.2048G>C	c.(2047-2049)aGg>aCg	p.R683T	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	683					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CAAAGACTGCCTGTATAGGCT	0.483													47	56					0	0	0	0	G	64172320	C	G	64172320	3	3	269	1	0	0	0	0	1	0	0	0	3133	681	24	4	274	4	CDH19	18	64172320	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	40298880	64172320	13904928	170	47960											
MARCH2	51257	broad.mit.edu	37	chr19	8486776	8486776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccctgtgtgactgctccGgcagccctgccttctccaag	4	10	10	17	1	1	1	0	1	1	0	4	1	3	1	5	1	3	3	5	1	1	1	rs141281179		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:8486776G>A	ENST00000602117.1	+	2	507	c.52G>A	c.(52-54)Ggc>Agc	p.G18S	MARCH2_ENST00000381035.4_Missense_Mutation_p.G18S|MARCH2_ENST00000393944.1_Missense_Mutation_p.G18S|MARCH2_ENST00000215555.2_Missense_Mutation_p.G18S|MARCH2_ENST00000601283.1_Missense_Mutation_p.G18S			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	18					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						TGACTGCTCCGGCAGCCCTGC	0.677													22	67					0	0	0	0	A	8486776	G	A	8486776	3	1	269	1	0	0	0	0	1	0	0	0	9370	1116	39	1	54	1	MARCH2	19	8486776	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08		8486776	50642207	171	47961											
OR7G2	390882	broad.mit.edu	37	chr19	9213869	9213869	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagttccggatcctctatCagtcccaggagaaggaattt	10	11	10	10	1	2	1	1	0	1	1	5	4	5	3	3	3	1	2	3	3	3	3	rs141362700		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:9213869C>T	ENST00000305456.2	-	1	113	c.114G>A	c.(112-114)ctG>ctA	p.L38L		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GATCCTCTATCAGTCCCAGGA	0.463													20	42					0	0	0	0	T	9213869	C	T	9213869	2	4	269	1	0	0	0	0	0	0	0	1	11294	813	29	2		2	OR7G2	19	9213869	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	727093	9213869	49915114	172	47962											
RGL3	57139	broad.mit.edu	37	chr19	11510580	11510580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccgggggactgccagcaGgagcatctctgcttctagga	8	7	15	11	1	2	0	0	0	2	0	3	3	2	3	2	5	4	3	2	5	1	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:11510580G>T	ENST00000380456.3	-	16	1760	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	RGL3_ENST00000393423.3_Missense_Mutation_p.P572H	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	566	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						ACTGCCAGCAGGAGCATCTCT	0.667													22	37					7.41877e-09	9.02182e-09	1	0	T	11510580	G	T	11510580	3	4	269	1	0	0	0	0	1	0	0	0	13360	1000	35	4	451	4	RGL3	19	11510580	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	2296711	11510580	47618403	173	47963											
CPAMD8	27151	broad.mit.edu	37	chr19	17056421	17056428	+	Frame_Shift_Del	DEL	TCTCCTCA	TCTCCTCA	-																															gaccctcctgtcggcgtgatTctcctcagggtgtttgctgg																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:17056421_17056428delTCTCCTCA	ENST00000443236.1	-	22	2896_2903	c.2865_2872delTGAGGAGA	c.(2863-2874)ccatfs	p.PEEN955fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	908						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCGGCGTGATTCTCCTCAGGGTGTTTGC	0.572													27	64	---	---	---	---					-	17056428	TCTCCTCA	-	17056421	7	5	269	1	0	1	0	1	0	0	0	0	3825	1783	62	0	3010	0	CPAMD8	19	17056421	Frame_Shift_Del	DEL	TCTCCTCA	TCGA-CV-6960-01A-41D-2012-08	5545841	17056421	42072562	174	47964											
TMEM59L	25789	broad.mit.edu	37	chr19	18729276	18729276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctccaccctggtgaccGcgcctggccagcacctcaag	6	6	11	18	2	1	1	1	1	0	0	2	1	2	1	6	2	2	3	6	2	1	0			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:18729276G>C	ENST00000600490.1	+	8	1059	c.874G>C	c.(874-876)Gcg>Ccg	p.A292P	TMEM59L_ENST00000262817.3_Missense_Mutation_p.A292P			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	292						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCTGGTGACCGCGCCTGGCCA	0.667													3	14					0	0	0	0	C	18729276	G	C	18729276	3	2	269	1	0	0	0	0	1	0	0	0	16280	1087	38	3	900	3	TMEM59L	19	18729276	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	1672855	18729276	40399707	175	47965											
APLP1	333	broad.mit.edu	37	chr19	36362583	36362583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggctcggatcggttcCgtggtgtggagtatgtgtgc	3	13	17	8	3	0	0	0	0	0	0	3	2	1	2	2	5	1	3	2	5	1	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:36362583C>T	ENST00000221891.4	+	5	799	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	APLP1_ENST00000537454.2_Missense_Mutation_p.R164C|APLP1_ENST00000586861.1_Missense_Mutation_p.R197C	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	203					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	p.R203C(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGATCGGTTCCGTGGTGTGGA	0.637													23	26					0	0	0	0	T	36362583	C	T	36362583	3	4	269	1	0	0	0	0	1	0	0	0	780	652	23	1	625	1	APLP1	19	36362583	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	17633307	36362583	22766400	176	47966											
ZNF45	7596	broad.mit.edu	37	chr19	44419353	44419355	+	Splice_Site	DEL	CTA	CTA	-																															ctcttttagattcttggctcCtaaaaggataaagaaaatgt																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:44419353_44419355delCTA	ENST00000269973.5	-	10	1326		c.e10-1		ZNF45_ENST00000589703.1_Splice_Site|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45						multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTCTTGGCTCCTAAAAGGATAAA	0.414													10	8	---	---	---	---					-	44419355	CTA	-	44419353	8	5	269	1	0	1	0	1	0	0	1	0	18016	695	24	0	1817	0	ZNF45	19	44419353	Splice_Site	DEL	CTA	TCGA-CV-6960-01A-41D-2012-08	8056770	44419353	14709630	177	47967											
SIGLEC12	89858	broad.mit.edu	37	chr19	52000164	52000164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccctgacagcgtttgcGtcctccatgcctgtatcccc	5	10	9	17	2	0	1	0	1	0	0	3	2	3	1	7	0	4	2	7	0	1	2	rs145034575		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:52000164G>T	ENST00000291707.3	-	7	1624	c.1569C>A	c.(1567-1569)gaC>gaA	p.D523E	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.D405E	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	523					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGCGTTTGCGTCCTCCATGC	0.577													27	34					3.65163e-15	5.10806e-15	1	0	T	52000164	G	T	52000164	3	4	269	1	0	0	0	0	1	0	0	0	14396	1136	40	3	226	3	SIGLEC12	19	52000164	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	7580811	52000164	7128819	178	47968											
DPRX	503834	broad.mit.edu	37	chr19	54135364	54135364	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacatctggattagaagatgCcaggctcagaggatcttcgt	11	10	11	9	1	3	3	1	0	2	3	4	5	3	5	1	3	1	1	1	3	2	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:54135364C>A	ENST00000376650.1	+	1	55	c.4C>A	c.(4-6)Cca>Aca	p.P2T		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	2						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		TTAGAAGATGCCAGGCTCAGA	0.498													36	49					1.07637e-12	1.44711e-12	1	0	A	54135364	C	A	54135364	3	1	269	1	0	0	0	0	1	0	0	0	4774	739	26	4	6	4	DPRX	19	54135364	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	2135200	54135364	4993619	179	47969											
SIGLEC1	6614	broad.mit.edu	37	chr20	3679898	3679898	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccactggcactgtggccGtcccgggcccggcagtggta	4	6	17	14	3	0	0	0	0	0	0	1	0	1	0	4	6	0	3	4	6	1	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr20:3679898G>C	ENST00000344754.4	-	7	1736	c.1737C>G	c.(1735-1737)gaC>gaG	p.D579E	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D579E	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	579	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CACTGTGGCCGTCCCGGGCCC	0.692													7	15					0	0	0	0	C	3679898	G	C	3679898	3	2	269	1	0	0	0	0	1	0	0	0	14393	1136	40	3	3452	3	SIGLEC1	20	3679898	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08		3679898	59345622	180	47970											
MAVS	57506	broad.mit.edu	37	chr20	3845384	3845384	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcctactagcatggtgctCaccaaggtgtctgccagcac	8	9	11	13	0	2	0	1	0	1	0	2	0	2	0	3	2	6	3	3	2	3	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr20:3845384C>T	ENST00000428216.2	+	6	1235	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	MAVS_ENST00000416600.2_Silent_p.L228L|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	369					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCATGGTGCTCACCAAGGTGT	0.592													25	63					0	0	0	0	T	3845384	C	T	3845384	2	4	269	1	0	0	0	0	0	0	0	1	9407	813	29	2		2	MAVS	20	3845384	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	165486	3845384	59180136	181	47971											
PTPN1	5770	broad.mit.edu	37	chr20	49196356	49196356	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgggaaatgcagggagttCttcccaaatcaccagtgggt	12	9	12	8	0	2	0	1	0	1	0	3	2	3	2	2	3	1	2	2	3	3	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr20:49196356C>G	ENST00000371621.3	+	8	1155	c.981C>G	c.(979-981)ttC>ttG	p.F327L	PTPN1_ENST00000541713.1_Missense_Mutation_p.F254L	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	327					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	GCAGGGAGTTCTTCCCAAATC	0.572											OREG0026029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	125					0	0	0	0	G	49196356	C	G	49196356	3	3	269	1	0	0	0	0	1	0	0	0	12859	912	32	2	1011	2	PTPN1	20	49196356	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	45350972	49196356	13829164	182	47972											
LIPI	149998	broad.mit.edu	37	chr21	15561702	15561702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctctgaaggaatcctttaCacttagctgagagaattcaa	14	12	7	8	0	2	3	1	2	1	1	4	5	3	4	1	1	2	1	1	1	6	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr21:15561702C>A	ENST00000344577.2	-	2	173	c.148G>T	c.(148-150)Gta>Tta	p.V50L	LIPI_ENST00000536861.1_Missense_Mutation_p.V29L	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	29					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GAATCCTTTACACTTAGCTGA	0.358													22	36					1.22574e-08	1.48314e-08	1	0	A	15561702	C	A	15561702	3	1	269	1	0	0	0	0	1	0	0	0	8880	478	17	4	1333	4	LIPI	21	15561702	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08		15561702	32568193	183	47973											
NCAM2	4685	broad.mit.edu	37	chr21	22696776	22696776	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagaaatgacattttcCtgcagggcctcaggctctcc	10	9	11	11	0	2	3	1	1	1	2	4	4	3	3	3	3	1	2	3	3	2	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr21:22696776C>T	ENST00000400546.1	+	6	942	c.693C>T	c.(691-693)tcC>tcT	p.S231S	NCAM2_ENST00000284894.7_Silent_p.S89S|NCAM2_ENST00000535285.1_Silent_p.S256S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	231	Ig-like C2-type 3.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGACATTTTCCTGCAGGGCCT	0.493													17	56					0	0	0	0	T	22696776	C	T	22696776	2	4	269	1	0	0	0	0	0	0	0	1	10273	668	24	4		4	NCAM2	21	22696776	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	7135074	22696776	25433119	184	47974											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253791	32253791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccactggaacaatgcagCgtcctccaatgggcctggaa	10	6	13	12	1	0	0	0	0	0	0	2	2	2	2	4	4	3	1	4	4	4	0			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr21:32253791C>A	ENST00000332378.4	-	1	83	c.53G>T	c.(52-54)cGc>cTc	p.R18L		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	18						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AACAATGCAGCGTCCTCCAAT	0.547													34	59					2.48696e-23	3.80914e-23	1	0	A	32253791	C	A	32253791	3	1	269	1	0	0	0	0	1	0	0	0	8569	768	27	3	442	3	KRTAP11-1	21	32253791	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	9557015	32253791	15876104	185	47975											
FTCD	10841	broad.mit.edu	37	chr21	47570433	47570433	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgaactttcttcagacGtcctggctgcaaaggaagag	10	9	11	11	1	2	3	1	1	1	2	3	4	3	4	2	2	2	2	2	2	3	2	rs149667449	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr21:47570433G>C	ENST00000397748.1	-	6	686	c.643C>G	c.(643-645)Cgt>Ggt	p.R215G	FTCD_ENST00000397746.3_Missense_Mutation_p.R215G|FTCD_ENST00000291670.5_Missense_Mutation_p.R215G|FTCD_ENST00000397743.1_Missense_Mutation_p.R215G|FTCD_ENST00000359679.2_Missense_Mutation_p.R215G|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Missense_Mutation_p.R215G			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	215	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	p.R215C(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TTCTTCAGACGTCCTGGCTGC	0.577													16	46					0	0	0	0	C	47570433	G	C	47570433	3	2	269	1	0	0	0	0	1	0	0	0	6129	1145	40	3	1018	3	FTCD	21	47570433	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	15316642	47570433	559462	186	47976											
CDC45	8318	broad.mit.edu	37	chr22	19504093	19504093	+	Frame_Shift_Del	DEL	C	C	-																															gctgcccctggtgatggctgCccccctgagcatggagcatg																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:19504093delC	ENST00000407835.1	+	17	1740	c.1484delC	c.(1483-1485)gcfs	p.A495fs	CDC45_ENST00000437685.2_Frame_Shift_Del_p.A527fs|CDC45_ENST00000404724.3_Frame_Shift_Del_p.A449fs|CDC45_ENST00000263201.1_Frame_Shift_Del_p.A495fs			O75419	CDC45_HUMAN	cell division cycle 45	495					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTGATGGCTGCCCCCCTGAGC	0.627													25	59	---	---	---	---					-	19504093	C	-	19504093	7	5	269	1	0	1	0	1	0	0	0	0	3110	739	26	0	1646	0	CDC45	22	19504093	Frame_Shift_Del	DEL	C	TCGA-CV-6960-01A-41D-2012-08		19504093	31800473	187	47977											
THAP7	80764	broad.mit.edu	37	chr22	21354710	21354710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggagttgtgggccctcggCcctcggagcagctggtaagg	6	8	17	10	2	0	0	0	0	0	0	2	2	0	2	2	6	2	4	2	6	1	2			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:21354710C>T	ENST00000215742.4	-	4	563	c.389G>A	c.(388-390)gGc>gAc	p.G130D	THAP7_ENST00000399133.2_Missense_Mutation_p.G130D	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	130					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGGCCCTCGGCCCTCGGAGCA	0.622													3	8					0	0	0	0	T	21354710	C	T	21354710	3	4	269	1	0	0	0	0	1	0	0	0	15943	739	26	4	544	4	THAP7	22	21354710	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	1850617	21354710	29949856	188	47978											
CABIN1	23523	broad.mit.edu	37	chr22	24515613	24515613	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagccgcttcccccagcactAtaagagtctctaccgtctgg	8	9	9	15	2	2	1	0	0	2	1	4	2	3	1	4	1	3	2	4	1	3	4			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:24515613A>G	ENST00000398319.2	+	28	4965	c.4580A>G	c.(4579-4581)tAt>tGt	p.Y1527C	CABIN1_ENST00000263119.5_Missense_Mutation_p.Y1527C|CABIN1_ENST00000405822.2_Missense_Mutation_p.Y1448C	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1527					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCCCAGCACTATAAGAGTCTC	0.647													80	141					0	0	0	0	G	24515613	A	G	24515613	3	3	269	1	0	0	0	0	1	0	0	0	2553	449	16	5	4686	5	CABIN1	22	24515613	Missense_Mutation	SNP	A	TCGA-CV-6960-01A-41D-2012-08	3160903	24515613	26788953	189	47979											
ASPHD2	57168	broad.mit.edu	37	chr22	26838460	26838460	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggctgtgagctggtggtgGggggagagccccagtgctgg	5	8	21	7	0	0	2	0	1	0	1	0	3	0	2	2	7	3	3	2	7	0	0			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:26838460G>C	ENST00000215906.5	+	3	1360	c.922G>C	c.(922-924)Ggg>Cgg	p.G308R		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	308					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GCTGGTGGTGGGGGGAGAGCC	0.552													51	140					0	0	0	0	C	26838460	G	C	26838460	3	2	269	1	0	0	0	0	1	0	0	0	1059	1232	43	4	928	4	ASPHD2	22	26838460	Missense_Mutation	SNP	G	TCGA-CV-6960-01A-41D-2012-08	2322847	26838460	24466106	190	47980											
LARGE	9215	broad.mit.edu	37	chr22	33733754	33733754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccacatgcttgttcttcaCccggagcttcttgggggagt	5	13	11	12	1	3	0	1	0	2	0	4	2	4	2	2	3	2	3	2	3	0	5			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:33733754C>A	ENST00000354992.2	-	11	1736	c.1165G>T	c.(1165-1167)Gtg>Ttg	p.V389L	LARGE_ENST00000452586.2_Missense_Mutation_p.V188L|LARGE_ENST00000437602.2_Missense_Mutation_p.V389L|LARGE_ENST00000337431.2_Intron|LARGE_ENST00000397394.2_Missense_Mutation_p.V389L|LARGE_ENST00000402320.1_Intron	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	389					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TTGTTCTTCACCCGGAGCTTC	0.557													11	27					0.000151284	0.000162715	1	0	A	33733754	C	A	33733754	3	1	269	1	0	0	0	0	1	0	0	0	8680	507	18	4	1129	4	LARGE	22	33733754	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	6895294	33733754	17570812	191	47981											
MYH9	4627	broad.mit.edu	37	chr22	36689419	36689419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctccaggttgtgcttggCctcctcctcctcctccagct	2	14	7	18	0	1	0	0	0	1	0	7	0	6	0	7	2	2	3	7	2	0	3			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:36689419C>G	ENST00000216181.5	-	30	4281	c.4051G>C	c.(4051-4053)Gcc>Ccc	p.A1351P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1351					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCC	0.652			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				31	56					0	0	0	0	G	36689419	C	G	36689419	3	3	269	1	0	0	0	0	1	0	0	0	10112	739	26	4	1879	4	MYH9	22	36689419	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	2955665	36689419	14615147	192	47982											
SHANK3	85358	broad.mit.edu	37	chr22	51159933	51159933	+	Frame_Shift_Del	DEL	G	G	-																															gggcaggagcccagcaggctGgggggggccgaagaggagcg																										TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:51159933delG	ENST00000414786.2	+	21	3857	c.3630delG	c.(3628-3630)ctfs	p.L1210fs	SHANK3_ENST00000262795.3_Frame_Shift_Del_p.L1240fs|SHANK3_ENST00000445220.2_Frame_Shift_Del_p.L1226fs			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1240										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCAGCAGGCTGGGGGGGGCCG	0.721													4	3	---	---	---	---					-	51159933	G	-	51159933	7	5	269	1	0	1	0	1	0	0	0	0	14354	1335	47	0	3806	0	SHANK3	22	51159933	Frame_Shift_Del	DEL	G	TCGA-CV-6960-01A-41D-2012-08	14470514	51159933	144633	193	47983											
BRWD3	254065	broad.mit.edu	37	chrX	79999656	79999656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagtgttttcatagttaaCagccatgtcagaaatttcag	14	13	8	6	0	3	2	3	0	0	2	3	2	3	2	1	0	2	2	1	0	4	5			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:79999656C>A	ENST00000373275.4	-	8	904	c.688G>T	c.(688-690)Gtt>Ttt	p.V230F		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	230										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCATAGTTAACAGCCATGTCA	0.448													23	17					6.36457e-07	7.29965e-07	1	0	A	79999656	C	A	79999656	3	1	269	1	0	0	0	0	1	0	0	0	1534	478	17	4	4856	4	BRWD3	23	79999656	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08		79999656	75270904	194	47984											
POU3F4	5456	broad.mit.edu	37	chrX	82764275	82764275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcgctggcagacagcCtccagttggagaaggaagtg	9	8	13	11	1	1	2	0	0	1	2	4	4	2	3	3	3	1	3	3	3	2	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:82764275C>T	ENST00000373200.2	+	1	1007	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F		NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	315					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GGCAGACAGCCTCCAGTTGGA	0.557													11	9					0	0	0	0	T	82764275	C	T	82764275	3	4	269	1	0	0	0	0	1	0	0	0	12348	681	24	4	945	4	POU3F4	23	82764275	Missense_Mutation	SNP	C	TCGA-CV-6960-01A-41D-2012-08	2764619	82764275	72506285	195	47985											
DCX	1641	broad.mit.edu	37	chrX	110653366	110653366	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtcagacagagatcgcgtCaggtcagccagcaaggcgtc	10	7	13	11	3	3	2	3	0	0	2	5	3	3	2	1	2	2	1	1	2	1	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:110653366C>G	ENST00000338081.3	-	2	675	c.504G>C	c.(502-504)ctG>ctC	p.L168L	DCX_ENST00000488120.1_Silent_p.L87L|DCX_ENST00000371993.2_Silent_p.L87L|DCX_ENST00000356220.3_Silent_p.L87L|DCX_ENST00000356915.2_Silent_p.L87L|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	168	Doublecortin 1.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GAGATCGCGTCAGGTCAGCCA	0.527													51	27					0	0	0	0	G	110653366	C	G	110653366	2	3	269	1	0	0	0	0	0	0	0	1	4350	813	29	2		2	DCX	23	110653366	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	27889091	110653366	44617194	196	47986											
ATP11C	286410	broad.mit.edu	37	chrX	138899028	138899028	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataagaaatttacctgcttGatggctgtaacagttataac	15	13	7	6	0	0	2	0	1	0	1	0	2	0	2	1	1	4	4	1	1	7	7			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:138899028G>A	ENST00000370557.1	-	4	1339	c.312C>T	c.(310-312)atC>atT	p.I104I	ATP11C_ENST00000359686.2_Silent_p.I107I|ATP11C_ENST00000370543.1_Silent_p.I107I|ATP11C_ENST00000361648.2_Silent_p.I107I|ATP11C_ENST00000327569.3_Silent_p.I107I			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	107					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTACCTGCTTGATGGCTGTAA	0.368													17	21					0	0	0	0	A	138899028	G	A	138899028	2	1	269	1	0	0	0	0	0	0	0	1	1125	1280	45	2		2	ATP11C	23	138899028	Silent	SNP	G	TCGA-CV-6960-01A-41D-2012-08	28245662	138899028	16371532	197	47987											
SPANXN1	494118	broad.mit.edu	37	chrX	144329127	144329127	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggaacagcccacttcaagCatcaatggggagaagaggaa	16	5	12	8	0	2	2	2	0	0	2	2	5	2	4	1	4	3	1	1	4	5	1			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:144329127C>T	ENST00000370493.3	+	1	780	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	7										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTTCAAGCATCAATGGGG	0.448													46	41					0	0	0	0	T	144329127	C	T	144329127	2	4	269	1	0	0	0	0	0	0	0	1	15080	709	25	4		4	SPANXN1	23	144329127	Silent	SNP	C	TCGA-CV-6960-01A-41D-2012-08	5430099	144329127	10941433	198	47988											
C1orf159	54991	broad.mit.edu	37	chr1	1019467	1019467	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcctgcagaccccacgtCtcgggaacaggaaagagcat	11	7	10	13	2	1	2	0	0	1	2	3	4	2	4	3	2	3	2	3	2	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:1019467C>T	ENST00000482816.1	-	10	821		c.e10-1		C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000379320.1_Silent_p.E256E|C1orf159_ENST00000448924.1_Silent_p.E292E|C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379339.1_Silent_p.E292E|C1orf159_ENST00000294576.5_Silent_p.E256E			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159							integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GACCCCACGTCTCGGGAACAG	0.647													3	23					0	0	0	0	T	1019467	C	T	1019467	5	4	270	1	0	0	0	0	0	0	1	0	2027	928	32	2		2	C1orf159	1	1019467	Splice_Site	SNP	C	TCGA-CV-6961-01A-21D-1912-08		1019467	248231154	1	47989											
TAS1R3	83756	broad.mit.edu	37	chr1	1268701	1268701	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtgcgccgggtcaaggggttCcactcctgctgctacgactg	5	9	14	13	3	1	0	1	0	0	0	3	1	3	0	3	3	4	3	3	3	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:1268701C>G	ENST00000339381.5	+	5	1574	c.1542C>G	c.(1540-1542)ttC>ttG	p.F514L		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	514					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TCAAGGGGTTCCACTCCTGCT	0.711													4	8					0	0	0	0	G	1268701	C	G	1268701	3	3	270	1	0	0	0	0	1	0	0	0	15655	854	30	2	1560	2	TAS1R3	1	1268701	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	249234	1268701	247981920	2	47990											
PLCH2	9651	broad.mit.edu	37	chr1	2428128	2428128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagtccgtggccacccacGacatagagatggagggtgag	11	5	14	11	2	0	2	0	1	0	1	1	5	1	3	4	3	0	0	4	3	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:2428128G>A	ENST00000449969.1	+	14	1998	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N	PLCH2_ENST00000419816.2_Missense_Mutation_p.D640N|PLCH2_ENST00000378486.3_Missense_Mutation_p.D640N|PLCH2_ENST00000378488.3_Missense_Mutation_p.D640N|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	640					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGCCACCCACGACATAGAGAT	0.682													4	14					0	0	0	0	A	2428128	G	A	2428128	3	1	270	1	0	0	0	0	1	0	0	0	12110	1058	37	1	1972	1	PLCH2	1	2428128	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1159427	2428128	246822493	3	47991											
DFFB	1677	broad.mit.edu	37	chr1	3782217	3782217	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtccccagctgttggtgtCagggcaaggacaaagacccg	9	7	14	11	1	1	1	1	0	0	1	2	2	2	2	3	4	1	3	3	4	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:3782217C>T	ENST00000378212.2	+	3	575	c.252C>T	c.(250-252)gtC>gtT	p.V84V	DFFB_ENST00000378209.3_Intron|DFFB_ENST00000338895.3_Intron			O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	0					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CTGTTGGTGTCAGGGCAAGGA	0.597													5	20					0	0	0	0	T	3782217	C	T	3782217	2	4	270	1	0	0	0	0	0	0	0	1	4490	841	29	2		2	DFFB	1	3782217	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1354089	3782217	245468404	4	47992											
PRAMEF2	65122	broad.mit.edu	37	chr1	12918895	12918895	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggccccaccgagactactgGagctggcggggcagagcctg	8	4	16	13	2	0	2	0	0	0	2	0	4	0	3	4	5	3	2	4	5	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:12918895G>C	ENST00000240189.2	+	2	118	c.31G>C	c.(31-33)Gag>Cag	p.E11Q		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	11										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGACTACTGGAGCTGGCGGG	0.557													35	148					0	0	0	0	C	12918895	G	C	12918895	3	2	270	1	0	0	0	0	1	0	0	0	12512	1175	41	2	33	2	PRAMEF2	1	12918895	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	9136678	12918895	236331726	5	47993											
DDI2	84301	broad.mit.edu	37	chr1	15983119	15983119	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaattcacacagagcgtcaGaagccatgatgcatgtagtg	13	9	10	9	1	2	3	2	1	0	2	2	3	2	3	1	0	3	2	1	0	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:15983119G>A	ENST00000480945.1	+	9	1362	c.1191G>A	c.(1189-1191)caG>caA	p.Q397Q		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	397					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGAGCGTCAGAAGCCATGAT	0.458													39	93					0	0	0	0	A	15983119	G	A	15983119	2	1	270	1	0	0	0	0	0	0	0	1	4361	933	33	2		2	DDI2	1	15983119	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3064224	15983119	233267502	6	47994											
RCC2	55920	broad.mit.edu	37	chr1	17749292	17749292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtctaggggcttctactctCttggtgtcaccatgtcccag	6	13	10	12	0	4	0	1	0	3	0	6	0	5	0	2	3	1	1	2	3	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:17749292C>G	ENST00000375436.4	-	5	751	c.564G>C	c.(562-564)aaG>aaC	p.K188N	RCC2_ENST00000375433.3_Missense_Mutation_p.K188N	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	188					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CTTCTACTCTCTTGGTGTCAC	0.557													21	68					0	0	0	0	G	17749292	C	G	17749292	3	3	270	1	0	0	0	0	1	0	0	0	13256	912	32	2	1040	2	RCC2	1	17749292	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1766173	17749292	231501329	7	47995											
IGSF21	84966	broad.mit.edu	37	chr1	18703351	18703351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggttgggagccgcctcctgGacggcagcgctgagttcgac	5	7	17	12	4	0	1	0	1	0	0	2	4	1	3	3	4	2	4	3	4	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:18703351G>A	ENST00000251296.1	+	8	1542	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	387	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCGCCTCCTGGACGGCAGCGC	0.657													20	43					0	0	0	0	A	18703351	G	A	18703351	3	1	270	1	0	0	0	0	1	0	0	0	7652	1174	41	2	1189	2	IGSF21	1	18703351	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	954059	18703351	230547270	8	47996											
AKR7L	246181	broad.mit.edu	37	chr1	19597298	19597298	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccaccggggcgctgtggtCaggtgcatgtagatagaaga	9	9	15	8	2	1	3	1	0	0	3	2	3	2	3	2	4	1	3	2	4	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:19597298C>T	ENST00000420396.2	-	0	345				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GCGCTGTGGTCAGGTGCATGT	0.622													11	31					0	0	0	0	T	19597298	C	T	19597298	1	4	270	0	1	0	0	0	0	0	0	0	477	826	29	2		2	AKR7L	1	19597298	RNA	SNP	C	TCGA-CV-6961-01A-21D-1912-08	893947	19597298	229653323	9	47997											
AHDC1	27245	broad.mit.edu	37	chr1	27876393	27876393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagagtcccattcttcCgggaccgtctcttgcgcttt	6	12	10	13	3	2	1	0	0	2	1	5	3	4	3	3	2	2	1	3	2	1	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:27876393C>T	ENST00000374011.2	-	6	3202	c.2234G>A	c.(2233-2235)cGg>cAg	p.R745Q	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.R745Q	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	745	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCATTCTTCCGGGACCGTCT	0.677													10	43					0	0	0	0	T	27876393	C	T	27876393	3	4	270	1	0	0	0	0	1	0	0	0	412	652	23	1	2581	1	AHDC1	1	27876393	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	8279095	27876393	221374228	10	47998											
OSCP1	127700	broad.mit.edu	37	chr1	36883811	36883811	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttggctgctccgtgatctCaaactcccccatgattcgag	7	11	8	15	2	1	2	1	2	1	0	5	3	3	2	4	1	2	2	4	1	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:36883811C>G	ENST00000356637.5	-	11	1162	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	OSCP1_ENST00000315643.9_Intron|OSCP1_ENST00000433045.2_Missense_Mutation_p.E312Q|OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000235532.5_Missense_Mutation_p.E357Q			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	367					transport	basal plasma membrane		p.E367Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TCCGTGATCTCAAACTCCCCC	0.577													7	36					0	0	0	0	G	36883811	C	G	36883811	3	3	270	1	0	0	0	0	1	0	0	0	11357	835	29	2	74	2	OSCP1	1	36883811	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	9007418	36883811	212366810	11	47999											
RIMKLA	284716	broad.mit.edu	37	chr1	42880305	42880305	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaggcaaatgctaatgttgGcttcctagcctttgaccagg	9	12	11	9	0	0	2	0	2	0	0	1	2	1	2	3	3	2	4	3	3	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:42880305G>C	ENST00000431473.3	+	5	965	c.836G>C	c.(835-837)gGc>gCc	p.G279A		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	279	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCTAATGTTGGCTTCCTAGCC	0.483													23	270					0	0	0	0	C	42880305	G	C	42880305	3	2	270	1	0	0	0	0	1	0	0	0	13450	1203	42	4	854	4	RIMKLA	1	42880305	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	5996494	42880305	206370316	12	48000											
SLC2A1	6513	broad.mit.edu	37	chr1	43394969	43394969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccttctcgaagatgctcGtggagtaatagaagacctgc	10	9	11	11	3	1	3	0	0	1	3	3	5	1	4	3	1	2	2	3	1	4	3	rs80359823		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:43394969G>C	ENST00000426263.3	-	7	1062	c.884C>G	c.(883-885)aCg>aGg	p.T295R	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	295			T -> M (in GLUT1DS1; 75% of wild-type glucose uptake activity).		carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GAAGATGCTCGTGGAGTAATA	0.572													7	9					0	0	0	0	C	43394969	G	C	43394969	3	2	270	1	0	0	0	0	1	0	0	0	14626	1145	40	3	610	3	SLC2A1	1	43394969	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	514664	43394969	205855652	13	48001											
MPL	4352	broad.mit.edu	37	chr1	43812513	43812513	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagatctccagtgggcatCtggaattggagtggcagcac	9	8	16	8	0	2	1	0	0	2	1	3	4	2	3	1	5	1	3	1	5	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:43812513C>G	ENST00000372470.3	+	8	1258	c.1216C>G	c.(1216-1218)Ctg>Gtg	p.L406V	MPL_ENST00000413998.2_Missense_Mutation_p.L406V	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	406	Fibronectin type-III 2.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	p.L406V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGTGGGCATCTGGAATTGGA	0.567			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						17	80					0	0	0	0	G	43812513	C	G	43812513	3	3	270	1	0	0	0	0	1	0	0	0	9800	912	32	2	1246	2	MPL	1	43812513	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	417544	43812513	205438108	14	48002											
TMEM53	79639	broad.mit.edu	37	chr1	45120816	45120816	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaaaacacgaagtgaaggGatacccagtgactcggagaa	16	4	12	9	2	0	3	0	2	0	1	1	6	0	4	2	2	2	0	2	2	6	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:45120816G>T	ENST00000372237.3	-	3	412	c.249C>A	c.(247-249)atC>atA	p.I83I	TMEM53_ENST00000372235.3_Intron|TMEM53_ENST00000372242.3_Silent_p.I83I|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372243.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	83						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GAAGTGAAGGGATACCCAGTG	0.552											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	47					4.68919e-08	4.96942e-08	1	0	T	45120816	G	T	45120816	2	4	270	1	0	0	0	0	0	0	0	1	16273	1164	41	2		2	TMEM53	1	45120816	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1308303	45120816	204129805	15	48003											
PTCH2	8643	broad.mit.edu	37	chr1	45295679	45295679	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagccatggcagcccccactCagctcgtgagccacattggg	9	6	11	15	1	1	1	1	1	0	0	2	1	1	1	4	2	4	2	4	2	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:45295679C>G	ENST00000447098.2	-	7	848	c.837G>C	c.(835-837)ctG>ctC	p.L279L	PTCH2_ENST00000372192.3_Silent_p.L279L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	279					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGCCCCCACTCAGCTCGTGAG	0.607									Basal Cell Nevus syndrome				10	42					0	0	0	0	G	45295679	C	G	45295679	2	3	270	1	0	0	0	0	0	0	0	1	12810	813	29	2		2	PTCH2	1	45295679	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	174863	45295679	203954942	16	48004											
LRRC41	10489	broad.mit.edu	37	chr1	46745255	46745255	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaattgggctgggcgcttCtcaaacagacggcagaagga	13	6	14	8	2	1	3	1	0	1	3	2	4	1	4	0	4	1	3	0	4	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:46745255C>T	ENST00000343304.6	-	8	2337	c.2052G>A	c.(2050-2052)gaG>gaA	p.E684E	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	684										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGGGCGCTTCTCAAACAGAC	0.552													45	132					0	0	0	0	T	46745255	C	T	46745255	2	4	270	1	0	0	0	0	0	0	0	1	9063	912	32	2		2	LRRC41	1	46745255	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1449576	46745255	202505366	17	48005											
MKNK1	8569	broad.mit.edu	37	chr1	47046281	47046281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccctctccaagcaattcaGaggtcagcttgtacatatct	10	12	6	13	0	4	1	2	0	2	1	6	1	5	1	2	1	3	3	2	1	4	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:47046281G>A	ENST00000371946.4	-	4	318	c.155C>T	c.(154-156)tCt>tTt	p.S52F	MKNK1_ENST00000341183.5_Missense_Mutation_p.S52F|MKNK1_ENST00000428112.2_Missense_Mutation_p.S52F|MKNK1_ENST00000371944.4_5'UTR|MKNK1_ENST00000465783.1_Missense_Mutation_p.S52F|MKNK1_ENST00000545730.1_Missense_Mutation_p.S52F|MKNK1_ENST00000371945.4_Missense_Mutation_p.S52F	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	52	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					AAGCAATTCAGAGGTCAGCTT	0.478													22	41					0	0	0	0	A	47046281	G	A	47046281	3	1	270	1	0	0	0	0	1	0	0	0	9673	942	33	2	1286	2	MKNK1	1	47046281	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	301026	47046281	202204340	18	48006											
OSBPL9	114883	broad.mit.edu	37	chr1	52246990	52246990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcattggacattaccaaatGatactgaagagaacacagtg	16	9	9	7	0	1	3	1	2	0	1	1	5	1	4	1	1	3	0	1	1	5	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:52246990G>A	ENST00000371710.3	+	16	1647	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	OSBPL9_ENST00000361556.5_Missense_Mutation_p.D361N|OSBPL9_ENST00000462759.1_Missense_Mutation_p.D293N|OSBPL9_ENST00000337809.4_Missense_Mutation_p.D476N|OSBPL9_ENST00000530544.1_Missense_Mutation_p.D390N|OSBPL9_ENST00000435686.2_Missense_Mutation_p.D306N|OSBPL9_ENST00000447887.1_Missense_Mutation_p.D481N|OSBPL9_ENST00000371714.1_Missense_Mutation_p.D458N|OSBPL9_ENST00000428468.1_Missense_Mutation_p.D471N|OSBPL9_ENST00000531828.1_Missense_Mutation_p.D306N|OSBPL9_ENST00000453295.1_Missense_Mutation_p.D454N|OSBPL9_ENST00000486942.1_Missense_Mutation_p.D293N	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	471					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATTACCAAATGATACTGAAGA	0.358													12	22					0	0	0	0	A	52246990	G	A	52246990	3	1	270	1	0	0	0	0	1	0	0	0	11355	1290	45	2	1577	2	OSBPL9	1	52246990	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	5200709	52246990	197003631	19	48007											
DMRTB1	63948	broad.mit.edu	37	chr1	53925595	53925595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgtggcgatgcccagcCttgcgggacccccttttggg	3	8	14	16	4	0	0	0	0	0	0	0	2	0	1	6	3	3	0	6	3	0	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:53925595C>T	ENST00000371445.3	+	1	524	c.469C>T	c.(469-471)Ctt>Ttt	p.L157F		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	157	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GATGCCCAGCCTTGCGGGACC	0.761													5	9					0	0	0	0	T	53925595	C	T	53925595	3	4	270	1	0	0	0	0	1	0	0	0	4627	681	24	4	471	4	DMRTB1	1	53925595	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1678605	53925595	195325026	20	48008											
FAM151A	338094	broad.mit.edu	37	chr1	55081832	55081832	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acattgacgtcagcctccagGactgtgatgttgcctgtgga	8	11	12	10	1	1	2	1	2	0	0	2	4	2	4	3	2	2	1	3	2	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:55081832G>T	ENST00000302250.2	-	3	436	c.276C>A	c.(274-276)gtC>gtA	p.V92V	FAM151A_ENST00000371304.2_Silent_p.V92V|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	92						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CAGCCTCCAGGACTGTGATGT	0.453													29	69					1.74807e-11	1.88e-11	1	0	T	55081832	G	T	55081832	2	4	270	1	0	0	0	0	0	0	0	1	5499	1161	41	2		2	FAM151A	1	55081832	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1156237	55081832	194168789	21	48009											
FGGY	55277	broad.mit.edu	37	chr1	59844477	59844477	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttgatctcccggacttCttatcgtggaaggcaacagg	8	13	10	10	2	3	1	0	1	3	0	5	3	3	3	1	4	1	1	1	4	3	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:59844477C>G	ENST00000371218.4	+	5	706	c.522C>G	c.(520-522)ttC>ttG	p.F174L	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Missense_Mutation_p.F86L|FGGY_ENST00000303721.7_Missense_Mutation_p.F174L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	174					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCCGGACTTCTTATCGTGGA	0.393													3	47					0	0	0	0	G	59844477	C	G	59844477	3	3	270	1	0	0	0	0	1	0	0	0	5916	912	32	2	536	2	FGGY	1	59844477	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	4762645	59844477	189406144	22	48010											
DNTTIP2	30836	broad.mit.edu	37	chr1	94337703	94337703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatgctggctctcatcttCagtgctttgagatcattttt	6	18	7	10	0	4	1	3	1	2	1	6	2	5	1	1	1	2	3	1	1	0	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:94337703C>T	ENST00000436063.2	-	5	2049	c.1992G>A	c.(1990-1992)ctG>ctA	p.L664L		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CTCTCATCTTCAGTGCTTTGA	0.403													72	151					0	0	0	0	T	94337703	C	T	94337703	2	4	270	1	0	0	0	0	0	0	0	1	4718	813	29	2		2	DNTTIP2	1	94337703	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	34493226	94337703	154912918	23	48011											
AGL	178	broad.mit.edu	37	chr1	100346890	100346890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggttttacactaagtggaatCctgaagcattgccttcaaac	12	12	8	9	0	1	1	1	1	0	0	2	2	2	2	2	2	4	2	2	2	5	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:100346890C>T	ENST00000294724.4	+	16	2522	c.2044C>T	c.(2044-2046)Cct>Tct	p.P682S	AGL_ENST00000361915.3_Missense_Mutation_p.P682S|AGL_ENST00000370161.2_Missense_Mutation_p.P666S|AGL_ENST00000370165.3_Missense_Mutation_p.P682S|AGL_ENST00000361302.3_Missense_Mutation_p.P666S|AGL_ENST00000370163.3_Missense_Mutation_p.P682S|AGL_ENST00000361522.4_Missense_Mutation_p.P665S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	682					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAAGTGGAATCCTGAAGCATT	0.373													19	58					0	0	0	0	T	100346890	C	T	100346890	3	4	270	1	0	0	0	0	1	0	0	0	384	855	30	2	2171	2	AGL	1	100346890	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	6009187	100346890	148903731	24	48012											
AGL	178	broad.mit.edu	37	chr1	100366244	100366244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatggtctcattcctaatCtactgggtgaaggaatttat	10	14	10	7	0	2	1	1	1	2	0	4	2	3	2	1	4	1	1	1	4	5	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:100366244C>G	ENST00000294724.4	+	26	3893	c.3415C>G	c.(3415-3417)Cta>Gta	p.L1139V	AGL_ENST00000361915.3_Missense_Mutation_p.L1139V|AGL_ENST00000370161.2_Missense_Mutation_p.L1123V|AGL_ENST00000370165.3_Missense_Mutation_p.L1139V|AGL_ENST00000361302.3_Missense_Mutation_p.L1123V|AGL_ENST00000370163.3_Missense_Mutation_p.L1139V|AGL_ENST00000361522.4_Missense_Mutation_p.L1122V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1139					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CATTCCTAATCTACTGGGTGA	0.398													37	151					0	0	0	0	G	100366244	C	G	100366244	3	3	270	1	0	0	0	0	1	0	0	0	384	912	32	2	3582	2	AGL	1	100366244	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	19354	100366244	148884377	25	48013											
GPSM2	29899	broad.mit.edu	37	chr1	109461321	109461321	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctactctttgtcaacagactGaaggggaaaaaatacaaaac	18	8	7	8	0	2	2	1	1	1	1	2	3	2	3	0	2	4	0	0	2	9	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:109461321G>A	ENST00000406462.1	+	13	2123	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	GPSM2_ENST00000264126.3_Silent_p.L450L|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	450					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCAACAGACTGAAGGGGAAAA	0.373													9	56					0	0	0	0	A	109461321	G	A	109461321	2	1	270	1	0	0	0	0	0	0	0	1	6785	1277	45	2		2	GPSM2	1	109461321	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	9095077	109461321	139789300	26	48014											
CELSR2	1952	broad.mit.edu	37	chr1	109795615	109795615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccctgaggtctttcagctgGacatcttctccggggagctg	5	12	12	12	1	4	1	1	1	3	0	6	3	5	3	2	4	2	2	2	4	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:109795615G>A	ENST00000271332.3	+	1	2975	c.2914G>A	c.(2914-2916)Gac>Aac	p.D972N		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	972	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTTTCAGCTGGACATCTTCTC	0.592													28	76					0	0	0	0	A	109795615	G	A	109795615	3	1	270	1	0	0	0	0	1	0	0	0	3251	1174	41	2	2916	2	CELSR2	1	109795615	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	334294	109795615	139455006	27	48015											
SLC22A15	55356	broad.mit.edu	37	chr1	116577934	116577934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccctctctgtatctacttGattaaccaaaaatggtgagt	12	14	6	9	0	2	2	0	2	2	0	3	2	2	2	2	1	3	1	2	1	6	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:116577934G>A	ENST00000369503.4	+	7	1201	c.1071G>A	c.(1069-1071)ttG>ttA	p.L357L	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	357					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTATCTACTTGATTAACCAAA	0.438													12	28					0	0	0	0	A	116577934	G	A	116577934	2	1	270	1	0	0	0	0	0	0	0	1	14534	1281	45	2		2	SLC22A15	1	116577934	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	6782319	116577934	132672687	28	48016											
WDR3	10885	broad.mit.edu	37	chr1	118483837	118483837	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgacaagacaggcaggattCttgcttgccatgtgagtacc	10	10	11	10	1	1	2	0	1	1	1	2	4	1	3	2	2	3	3	2	2	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:118483837C>G	ENST00000349139.4	+	8	927	c.880C>G	c.(880-882)Ctt>Gtt	p.L294V	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	294						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AGGCAGGATTCTTGCTTGCCA	0.413													5	55					0	0	0	0	G	118483837	C	G	118483837	3	3	270	1	0	0	0	0	1	0	0	0	17381	913	32	2	906	2	WDR3	1	118483837	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1905903	118483837	130766784	29	48017											
CHD1L	9557	broad.mit.edu	37	chr1	146756150	146756150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaagctagtcaagagggccGatcactccgaaataaaggca	16	5	11	9	2	2	1	2	0	0	1	3	4	3	1	2	2	1	2	2	2	6	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:146756150G>A	ENST00000369258.4	+	16	1852	c.1832G>A	c.(1831-1833)cGa>cAa	p.R611Q	CHD1L_ENST00000361293.5_Missense_Mutation_p.R330Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.R407Q|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.R517Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	611					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CAAGAGGGCCGATCACTCCGA	0.348													17	63					0	0	0	0	A	146756150	G	A	146756150	3	1	270	1	0	0	0	0	1	0	0	0	3353	1058	37	1	1894	1	CHD1L	1	146756150	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	28272313	146756150	102494471	30	48018											
MCL1	4170	broad.mit.edu	37	chr1	150551469	150551469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggtaccgagagataatctCcagcgactgccggtacaact	13	7	10	11	3	1	1	0	0	1	1	2	4	1	1	3	2	5	2	3	2	5	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:150551469C>T	ENST00000369026.2	-	1	597	c.538G>A	c.(538-540)Gag>Aag	p.E180K	MCL1_ENST00000307940.3_Missense_Mutation_p.E180K	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	180					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAGATAATCTCCAGCGACTGC	0.627													25	59					0	0	0	0	T	150551469	C	T	150551469	3	4	270	1	0	0	0	0	1	0	0	0	9453	864	30	2	537	2	MCL1	1	150551469	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	3795319	150551469	98699152	31	48019											
FLG	2312	broad.mit.edu	37	chr1	152282333	152282333	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggatccatgtctttctcctgGacttgaccttgcctgttcct	4	16	8	13	0	2	1	0	1	2	0	5	3	4	3	5	2	1	1	5	2	0	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152282333G>C	ENST00000368799.1	-	3	5064	c.5029C>G	c.(5029-5031)Cca>Gca	p.P1677A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1677	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTTCTCCTGGACTTGACCTT	0.567									Ichthyosis				129	468					0	0	0	0	C	152282333	G	C	152282333	3	2	270	1	0	0	0	0	1	0	0	0	5967	1174	41	2	7160	2	FLG	1	152282333	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1730864	152282333	96968288	32	48020											
FLG	2312	broad.mit.edu	37	chr1	152283709	152283709	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttgtccttacgagtttgtCtgcttgcacttctggatcct	4	18	9	10	1	2	0	0	0	2	0	4	2	4	1	2	1	3	4	2	1	1	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152283709C>G	ENST00000368799.1	-	3	3688	c.3653G>C	c.(3652-3654)aGa>aCa	p.R1218T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1218	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGAGTTTGTCTGCTTGCACT	0.552									Ichthyosis				126	378					0	0	0	0	G	152283709	C	G	152283709	3	3	270	1	0	0	0	0	1	0	0	0	5967	913	32	2	8536	2	FLG	1	152283709	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1376	152283709	96966912	33	48021											
FLG	2312	broad.mit.edu	37	chr1	152283989	152283989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggcagactcagactgttCatgagtgctcacctggtaga	10	10	12	9	0	3	4	3	1	0	3	3	4	3	4	1	2	1	4	1	2	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152283989C>T	ENST00000368799.1	-	3	3408	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1125	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGACTGTTCATGAGTGCTC	0.607									Ichthyosis				124	299					0	0	0	0	T	152283989	C	T	152283989	3	4	270	1	0	0	0	0	1	0	0	0	5967	835	29	2	8816	2	FLG	1	152283989	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	280	152283989	96966632	34	48022											
FLG2	388698	broad.mit.edu	37	chr1	152323370	152323370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtatctcctgtctgtccatGagtagtttccagtctcccat	6	15	8	12	0	3	1	0	1	3	0	7	1	5	1	4	1	0	3	4	1	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152323370G>A	ENST00000388718.5	-	3	6964	c.6892C>T	c.(6892-6894)Cat>Tat	p.H2298Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2298							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGTCCATGAGTAGTTTCC	0.483													25	313					0	0	0	0	A	152323370	G	A	152323370	3	1	270	1	0	0	0	0	1	0	0	0	5968	1290	45	2	287	2	FLG2	1	152323370	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	39381	152323370	96927251	35	48023											
KPRP	448834	broad.mit.edu	37	chr1	152732722	152732722	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctacagcagctgtttccctCagtatcggtcccggacttca	7	11	8	15	2	2	0	2	0	0	0	5	1	4	1	3	2	3	4	3	2	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152732722C>T	ENST00000368773.1	+	2	716	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	KPRP_ENST00000606109.1_Nonsense_Mutation_p.Q220*	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	220						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTTCCCTCAGTATCGGTC	0.577													9	138					0	0	0	0	T	152732722	C	T	152732722	4	4	270	1	0	0	0	0	0	1	0	0	8488	827	29	2	660	2	KPRP	1	152732722	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	409352	152732722	96517899	36	48024											
S100A16	140576	broad.mit.edu	37	chr1	153580541	153580541	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttgctgatcttgttcttGaccaggctgtacttagacac	7	15	8	11	0	3	3	0	2	3	1	3	3	3	3	1	1	2	4	1	1	2	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153580541G>C	ENST00000368704.1	-	2	272	c.87C>G	c.(85-87)gtC>gtG	p.V29V	S100A16_ENST00000368703.2_Silent_p.V29V|S100A16_ENST00000368705.2_Silent_p.V29V|S100A16_ENST00000368706.4_Silent_p.V29V|S100A16_ENST00000474991.1_5'UTR			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	29	EF-hand 1.					cytosol|nucleolus	calcium ion binding|protein homodimerization activity			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTGTTCTTGACCAGGCTGT	0.532													13	46					0	0	0	0	C	153580541	G	C	153580541	2	2	270	1	0	0	0	0	0	0	0	1	13862	1277	45	2		2	S100A16	1	153580541	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	847819	153580541	95670080	37	48025											
S100A14	57402	broad.mit.edu	37	chr1	153587810	153587810	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtactggtgaaagttcttGatgagggtctcaatggccct	9	12	13	7	0	2	3	1	3	2	0	3	4	2	3	1	3	1	2	1	3	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153587810G>C	ENST00000368702.1	-	4	350	c.78C>G	c.(76-78)atC>atG	p.I26M	S100A14_ENST00000476873.1_Missense_Mutation_p.I26M|S100A14_ENST00000344616.2_Missense_Mutation_p.I26M|S100A14_ENST00000368700.3_5'UTR|S100A14_ENST00000368701.1_Missense_Mutation_p.I26M			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	26					calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAAGTTCTTGATGAGGGTCT	0.572													20	38					0	0	0	0	C	153587810	G	C	153587810	3	2	270	1	0	0	0	0	1	0	0	0	13861	1280	45	2	244	2	S100A14	1	153587810	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	7269	153587810	95662811	38	48026											
NPR1	4881	broad.mit.edu	37	chr1	153661438	153661438	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcccccagggagaacagCagcaacatcctggacaacct	12	5	9	15	0	1	1	0	0	1	1	2	3	2	2	4	2	6	2	4	2	3	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153661438C>T	ENST00000368680.3	+	16	2899	c.2427C>T	c.(2425-2427)agC>agT	p.S809S		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	809					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGGAGAACAGCAGCAACATCC	0.637													32	100					0	0	0	0	T	153661438	C	T	153661438	2	4	270	1	0	0	0	0	0	0	0	1	10665	709	25	4		4	NPR1	1	153661438	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	73628	153661438	95589183	39	48027											
GATAD2B	57459	broad.mit.edu	37	chr1	153790563	153790563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccccttgggccccaggccGagagggaagcttagataggc	10	5	14	12	1	0	2	0	0	0	2	0	4	0	3	5	4	2	1	5	4	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153790563G>A	ENST00000368655.4	-	5	925	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	228						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R228W(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCCCAGGCCGAGAGGGAAGC	0.522													46	129					0	0	0	0	A	153790563	G	A	153790563	3	1	270	1	0	0	0	0	1	0	0	0	6310	1057	37	1	1127	1	GATAD2B	1	153790563	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	129125	153790563	95460058	40	48028											
DENND4B	9909	broad.mit.edu	37	chr1	153911479	153911479	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtgtgtgcagcagctgaGagtaaagtttgtggctggag	8	12	16	5	0	1	1	0	1	1	1	1	3	1	2	0	2	3	6	0	2	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153911479G>C	ENST00000361217.4	-	13	2280	c.1862C>G	c.(1861-1863)tCt>tGt	p.S621C		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	621	dDENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCAGCTGAGAGTAAAGTTT	0.537													4	17					0	0	0	0	C	153911479	G	C	153911479	3	2	270	1	0	0	0	0	1	0	0	0	4471	942	33	2	2692	2	DENND4B	1	153911479	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	120916	153911479	95339142	41	48029											
HAX1	10456	broad.mit.edu	37	chr1	154246316	154246316	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggacagacacttcgggactCaatgcttaagtatccagata	13	9	10	9	1	1	2	1	0	0	2	3	4	2	4	1	2	1	2	1	2	4	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:154246316C>G	ENST00000328703.7	+	3	596	c.383C>G	c.(382-384)tCa>tGa	p.S128*	HAX1_ENST00000457918.2_Nonsense_Mutation_p.S80*|HAX1_ENST00000532105.1_5'UTR|HAX1_ENST00000483970.2_Nonsense_Mutation_p.S136*	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	128	Involved in HCLS1 binding.	Cleavage; by caspase-3.				actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTCGGGACTCAATGCTTAAG	0.557									Kostmann syndrome				26	103					0	0	0	0	G	154246316	C	G	154246316	4	3	270	1	0	0	0	0	0	1	0	0	7025	838	29	2	393	2	HAX1	1	154246316	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	334837	154246316	95004305	42	48030											
RUSC1	23623	broad.mit.edu	37	chr1	155295461	155295461	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctttatcctgggcctcctCaagtgagttgccttctttcc	4	15	8	14	0	2	1	1	1	1	0	5	1	5	1	6	1	1	1	6	1	2	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:155295461C>T	ENST00000368352.5	+	6	1963	c.1812C>T	c.(1810-1812)ctC>ctT	p.L604L	RUSC1_ENST00000368349.4_Silent_p.L135L|RUSC1_ENST00000292254.4_Silent_p.L135L|RUSC1_ENST00000368347.4_Silent_p.L194L|RUSC1_ENST00000368354.3_Silent_p.L604L|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	604	RUN.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGGGCCTCCTCAAGTGAGTTG	0.612													9	15					0	0	0	0	T	155295461	C	T	155295461	2	4	270	1	0	0	0	0	0	0	0	1	13835	813	29	2		2	RUSC1	1	155295461	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1049145	155295461	93955160	43	48031											
BCAN	63827	broad.mit.edu	37	chr1	156621404	156621404	+	Missense_Mutation	SNP	C	C	T																															atcccgtggggccatctactCcatccccatcatggaggacg																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:156621404C>T	ENST00000329117.4	+	7	1556	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.S407F	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	407	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCATCTACTCCATCCCCATC	0.572													9	90					0	0	0	0	T	156621404	C	T	156621404	3	4	270	1	0	0	0	0	1	0	0	0	1349	855	30	2	1242	2	BCAN	1	156621404	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1325943	156621404	92629217	44	48032	367	2									
BCAN	63827	broad.mit.edu	37	chr1	156621405	156621405	+	Silent	SNP	C	C	T																															tcccgtggggccatctactcCatccccatcatggaggacgg																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:156621405C>T	ENST00000329117.4	+	7	1557	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.S407S	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	407	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCATCTACTCCATCCCCATCA	0.577													9	90					0	0	0	0	T	156621405	C	T	156621405	2	4	270	1	0	0	0	0	0	0	0	1	1349	581	21	4		4	BCAN	1	156621405	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1	156621405	92629216	45	48033	367	2									
FCRL4	83417	broad.mit.edu	37	chr1	157556066	157556066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatggcagggagctccagctCtgctctcagggaacgctgag	8	7	15	11	1	2	1	1	1	2	0	4	4	3	3	1	3	4	5	1	3	1	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:157556066C>G	ENST00000271532.1	-	6	1162	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	343	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCTCCAGCTCTGCTCTCAGG	0.582													24	70					0	0	0	0	G	157556066	C	G	157556066	3	3	270	1	0	0	0	0	1	0	0	0	5842	922	32	2	548	2	FCRL4	1	157556066	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	934661	157556066	91694555	46	48034											
F11R	50848	broad.mit.edu	37	chr1	160970527	160970527	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtgtcacggacttgaaggtGataccagttggcaagaaggt	11	9	14	7	2	1	3	1	2	0	1	1	4	1	4	1	4	1	2	1	4	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:160970527G>A	ENST00000368026.6	-	4	556	c.282C>T	c.(280-282)atC>atT	p.I94I	F11R_ENST00000537746.1_Intron|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	94	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			ACTTGAAGGTGATACCAGTTG	0.537													9	46					0	0	0	0	A	160970527	G	A	160970527	2	1	270	1	0	0	0	0	0	0	0	1	5376	1280	45	2		2	F11R	1	160970527	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3414461	160970527	88280094	47	48035											
NR1I3	9970	broad.mit.edu	37	chr1	161199674	161199674	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccgtaggcctcattaatgctCcggagctcagccagcaggcc	8	7	11	15	2	2	0	2	0	0	0	3	1	3	1	5	3	4	4	5	3	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:161199674C>G	ENST00000367983.4	-	9	1254	c.960G>C	c.(958-960)cgG>cgC	p.R320R	NR1I3_ENST00000508387.1_3'UTR|NR1I3_ENST00000367980.2_Silent_p.R329R|NR1I3_ENST00000515621.1_Silent_p.R245R|NR1I3_ENST00000502985.1_3'UTR|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367984.4_Silent_p.R281R|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000511676.1_Silent_p.R291R|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367982.4_Silent_p.R324R|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000504010.1_Silent_p.R252R|NR1I3_ENST00000428574.2_Intron|NR1I3_ENST00000442691.2_Intron|TOMM40L_ENST00000367987.1_3'UTR|NR1I3_ENST00000367981.3_Silent_p.R296R|TOMM40L_ENST00000474486.1_3'UTR|NR1I3_ENST00000367985.3_Silent_p.R286R|NR1I3_ENST00000367979.2_Silent_p.R329R|TOMM40L_ENST00000367988.3_3'UTR|NR1I3_ENST00000479324.1_5'UTR			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	324					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATTAATGCTCCGGAGCTCAG	0.557													15	44					0	0	0	0	G	161199674	C	G	161199674	2	3	270	1	0	0	0	0	0	0	0	1	10692	842	30	2		2	NR1I3	1	161199674	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	229147	161199674	88050947	48	48036											
FCGR2A	2212	broad.mit.edu	37	chr1	161476260	161476260	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggttccacaatgggaatctCattcccacccacacgcagcc	10	8	7	16	1	1	0	1	0	1	0	4	1	3	1	4	2	1	2	4	2	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:161476260C>G	ENST00000271450.6	+	3	281	c.243C>G	c.(241-243)ctC>ctG	p.L81L	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Silent_p.L80L	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	81	Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGGGAATCTCATTCCCACCC	0.597													13	75					0	0	0	0	G	161476260	C	G	161476260	2	3	270	1	0	0	0	0	0	0	0	1	5826	813	29	2		2	FCGR2A	1	161476260	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	276586	161476260	87774361	49	48037											
UHMK1	127933	broad.mit.edu	37	chr1	162470803	162470803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtgatacagaatgtacctCagctgttgatctgtggagcc	10	11	12	8	0	2	3	1	2	1	1	2	5	2	4	2	1	4	3	2	1	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:162470803C>T	ENST00000489294.1	+	3	820	c.662C>T	c.(661-663)tCa>tTa	p.S221L	UHMK1_ENST00000538489.1_Missense_Mutation_p.S221L|UHMK1_ENST00000545294.1_Missense_Mutation_p.S147L|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	221	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAATGTACCTCAGCTGTTGAT	0.443													6	39					0	0	0	0	T	162470803	C	T	162470803	3	4	270	1	0	0	0	0	1	0	0	0	17062	838	29	2	722	2	UHMK1	1	162470803	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	994543	162470803	86779818	50	48038											
DHX9	1660	broad.mit.edu	37	chr1	182853912	182853912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtcagatctctagaccctCagctgctggtatcaacctta	9	11	7	14	1	4	2	3	0	1	2	5	2	4	2	3	1	3	3	3	1	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:182853912C>T	ENST00000367549.3	+	27	3535	c.3425C>T	c.(3424-3426)tCa>tTa	p.S1142L	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1142					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TCTAGACCCTCAGCTGCTGGT	0.448													29	63					0	0	0	0	T	182853912	C	T	182853912	3	4	270	1	0	0	0	0	1	0	0	0	4553	838	29	2	3527	2	DHX9	1	182853912	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	20383109	182853912	66396709	51	48039											
OCLM	10896	broad.mit.edu	37	chr1	186370311	186370311	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcatattgttagtactttGaaatttttgctgatgttcaa	10	21	6	4	0	2	2	2	2	0	0	2	2	2	2	0	0	2	4	0	0	5	9			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:186370311G>C	ENST00000574641.1	+	1	608	c.134G>C	c.(133-135)tGa>tCa	p.*45S	C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000432021.3_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	0					visual perception												TTAGTACTTTGAAATTTTTGC	0.289													8	21					0	0	0	0	C	186370311	G	C	186370311	4	2	270	1	0	0	0	0	0	0	0	0	10890	1285	45	2	136	2	OCLM	1	186370311	Nonstop_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3516399	186370311	62880310	52	48040											
B3GALT2	8707	broad.mit.edu	37	chr1	193150249	193150249	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtattaaaaaaggacttttCtcttggcatttttcaggctc	11	16	7	7	0	2	0	1	0	1	0	4	1	2	1	0	3	0	3	0	3	4	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:193150249C>T	ENST00000367434.4	-	2	1199	c.444G>A	c.(442-444)gaG>gaA	p.E148E	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	148					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AAGGACTTTTCTCTTGGCATT	0.368													29	67					0	0	0	0	T	193150249	C	T	193150249	2	4	270	1	0	0	0	0	0	0	0	1	1252	912	32	2		2	B3GALT2	1	193150249	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	6779938	193150249	56100372	53	48041											
KDM5B	10765	broad.mit.edu	37	chr1	202725518	202725518	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagagtttgattttcccatCtcggacaggaaagccactgc	10	11	10	10	1	1	2	0	2	1	1	3	5	2	4	2	2	2	1	2	2	1	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:202725518C>G	ENST00000367265.3	-	10	2488	c.1324G>C	c.(1324-1326)Gat>Cat	p.D442H	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.D478H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	442					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATTTTCCCATCTCGGACAGGA	0.418													40	92					0	0	0	0	G	202725518	C	G	202725518	3	3	270	1	0	0	0	0	1	0	0	0	8186	913	32	2	3382	2	KDM5B	1	202725518	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	9575269	202725518	46525103	54	48042											
DSTYK	25778	broad.mit.edu	37	chr1	205138659	205138659	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggccaggagccccacagTtccagtgactgctgctcaga	8	7	11	15	0	1	2	1	1	0	1	2	3	2	3	5	2	3	3	5	2	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:205138659T>C	ENST00000367162.3	-	3	986	c.956A>G	c.(955-957)aAc>aGc	p.N319S	DSTYK_ENST00000367161.3_Missense_Mutation_p.N319S|DSTYK_ENST00000367160.4_Missense_Mutation_p.N319S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	319						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AGCCCCACAGTTCCAGTGACT	0.498													10	52					0	0	0	0	C	205138659	T	C	205138659	3	2	270	1	0	0	0	0	1	0	0	0	4821	1725	60	5	1877	5	DSTYK	1	205138659	Missense_Mutation	SNP	T	TCGA-CV-6961-01A-21D-1912-08	2413141	205138659	44111962	55	48043											
SLC41A1	254428	broad.mit.edu	37	chr1	205779420	205779420	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgttggcccgagactcaatCaccacctctaccccagcccc	8	6	7	20	2	3	1	2	0	1	1	3	2	3	1	7	1	2	1	7	1	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:205779420C>G	ENST00000367137.3	-	2	1164	c.150G>C	c.(148-150)gtG>gtC	p.V50V		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	50						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GAGACTCAATCACCACCTCTA	0.642											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	76					0	0	0	0	G	205779420	C	G	205779420	2	3	270	1	0	0	0	0	0	0	0	1	14717	813	29	2		2	SLC41A1	1	205779420	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	640761	205779420	43471201	56	48044											
SYT14	255928	broad.mit.edu	37	chr1	210334211	210334211	+	Missense_Mutation	SNP	G	G	A																															tggccctatttcagctttctGatgtgacactcatactgtct																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:210334211G>A	ENST00000537238.1	+	9	1769	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	SYT14_ENST00000472886.1_Missense_Mutation_p.D498N|SYT14_ENST00000534859.1_Missense_Mutation_p.D524N|SYT14_ENST00000422431.1_Missense_Mutation_p.D562N|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.D517N|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367015.1_Missense_Mutation_p.D460N	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	498	C2 2.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCAGCTTTCTGATGTGACACT	0.418													18	76					0	0	0	0	A	210334211	G	A	210334211	3	1	270	1	0	0	0	0	1	0	0	0	15561	1290	45	2	1722	2	SYT14	1	210334211	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	4554791	210334211	38916410	57	48045	368	2									
SYT14	255928	broad.mit.edu	37	chr1	210334216	210334216	+	Silent	SNP	G	G	A																															ctatttcagctttctgatgtGacactcatactgtctgtgta																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:210334216G>A	ENST00000537238.1	+	9	1774	c.1383G>A	c.(1381-1383)gtG>gtA	p.V461V	SYT14_ENST00000472886.1_Silent_p.V499V|SYT14_ENST00000534859.1_Silent_p.V525V|SYT14_ENST00000422431.1_Silent_p.V563V|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367019.1_Silent_p.V518V|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367015.1_Silent_p.V461V	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	499	C2 2.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTTCTGATGTGACACTCATAC	0.418													17	77					0	0	0	0	A	210334216	G	A	210334216	2	1	270	1	0	0	0	0	0	0	0	1	15561	1277	45	2		2	SYT14	1	210334216	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	5	210334216	38916405	58	48046	368	2									
ESRRG	2104	broad.mit.edu	37	chr1	216850530	216850530	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtctcttgggcatcgagttGagcatgtattcacacttggt	8	14	11	8	1	2	1	1	1	1	0	4	2	2	1	0	2	1	4	0	2	1	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:216850530G>A	ENST00000391890.3	-	4	808	c.291C>T	c.(289-291)ctC>ctT	p.L97L	ESRRG_ENST00000493748.1_Silent_p.L97L|ESRRG_ENST00000408911.3_Silent_p.L120L|ESRRG_ENST00000493603.1_Silent_p.L97L|ESRRG_ENST00000366940.2_Silent_p.L97L|ESRRG_ENST00000366938.2_Silent_p.L97L|ESRRG_ENST00000360012.3_Silent_p.L97L|ESRRG_ENST00000361395.2_Silent_p.L97L|ESRRG_ENST00000487276.1_Silent_p.L97L|ESRRG_ENST00000463665.1_Silent_p.L97L|ESRRG_ENST00000366937.1_Silent_p.L125L|ESRRG_ENST00000359162.2_Silent_p.L97L|ESRRG_ENST00000361525.3_Silent_p.L97L	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	120					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCATCGAGTTGAGCATGTATT	0.502													23	103					0	0	0	0	A	216850530	G	A	216850530	2	1	270	1	0	0	0	0	0	0	0	1	5300	1277	45	2		2	ESRRG	1	216850530	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	6516314	216850530	32400091	59	48047											
LYPLAL1	127018	broad.mit.edu	37	chr1	219384873	219384873	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtacttcctgaattatttCagtgtcatggtactgcagat	9	16	9	7	0	2	2	2	1	0	1	3	2	3	2	1	1	3	3	1	1	4	5	rs140122550		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:219384873C>T	ENST00000366928.5	+	5	564	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.Q157*	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	173						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TGAATTATTTCAGTGTCATGG	0.353													29	104					0	0	0	0	T	219384873	C	T	219384873	4	4	270	1	0	0	0	0	0	1	0	0	9183	827	29	2	535	2	LYPLAL1	1	219384873	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2534343	219384873	29865748	60	48048											
ARID4B	51742	broad.mit.edu	37	chr1	235345584	235345584	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtagagattttcttttttCctccaaaccattgtatttct	8	19	4	10	1	2	1	0	0	2	1	4	2	4	1	4	0	1	2	4	0	3	9			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:235345584C>A	ENST00000264183.3	-	20	3147	c.2650G>T	c.(2650-2652)Gaa>Taa	p.E884*	ARID4B_ENST00000366603.2_Nonsense_Mutation_p.E884*|ARID4B_ENST00000349213.3_Nonsense_Mutation_p.E798*	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTCTTTTTTCCTCCAAACCA	0.343													7	101					0.00307968	0.00315885	1	0	A	235345584	C	A	235345584	4	1	270	1	0	0	0	0	0	1	0	0	922	864	30	2	1308	2	ARID4B	1	235345584	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	15960711	235345584	13905037	61	48049											
MAP1LC3C	440738	broad.mit.edu	37	chr1	242162283	242162283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcttgaagggtctgaCgcttgggattttctgtggag	5	14	14	8	1	3	2	0	2	3	0	3	4	3	4	1	3	1	2	1	3	1	4	rs141733716	by1000genomes	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:242162283C>T	ENST00000357246.3	-	1	92	c.28G>A	c.(28-30)Gtc>Atc	p.V10I		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	10					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAGGGTCTGACGCTTGGGATT	0.458											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	61					0	0	0	0	T	242162283	C	T	242162283	3	4	270	1	0	0	0	0	1	0	0	0	9302	536	19	1	431	1	MAP1LC3C	1	242162283	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	6816699	242162283	7088338	62	48050											
OR2C3	81472	broad.mit.edu	37	chr1	247694956	247694956	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggtgtaaataagtgggttCagcgcaggagtgactacggt	11	9	16	5	2	1	1	1	1	0	0	1	2	1	2	0	4	2	3	0	4	4	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:247694956C>G	ENST00000366487.3	-	2	1219	c.858G>C	c.(856-858)ctG>ctC	p.L286L	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAAGTGGGTTCAGCGCAGGAG	0.547													7	93					0	0	0	0	G	247694956	C	G	247694956	2	3	270	1	0	0	0	0	0	0	0	1	11064	813	29	2		2	OR2C3	1	247694956	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	5532673	247694956	1555665	63	48051											
OR2W3	343171	broad.mit.edu	37	chr1	248059216	248059216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctgggtctgggtggtGtggagtgcctgcttctggct	1	15	17	8	0	2	0	0	0	2	0	3	1	3	1	2	5	2	3	2	5	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:248059216G>C	ENST00000537741.1	+	3	585	c.328G>C	c.(328-330)Gtg>Ctg	p.V110L	OR2W3_ENST00000360358.3_Missense_Mutation_p.V110L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTGGGTGGTGTGGAGTGCCT	0.577													23	60					0	0	0	0	C	248059216	G	C	248059216	3	2	270	1	0	0	0	0	1	0	0	0	11104	1377	48	4	330	4	OR2W3	1	248059216	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	364260	248059216	1191405	64	48052											
GRHL1	29841	broad.mit.edu	37	chr2	10132193	10132193	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaatggatatcacagttttCaaacccttcattgatctcga	12	13	6	10	2	4	1	3	1	1	0	5	4	4	2	1	1	1	1	1	1	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:10132193C>G	ENST00000324907.9	+	11	1516	c.1380C>G	c.(1378-1380)ttC>ttG	p.F460L	GRHL1_ENST00000324883.5_Missense_Mutation_p.F271L|GRHL1_ENST00000405379.2_Missense_Mutation_p.F460L	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	460					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TCACAGTTTTCAAACCCTTCA	0.433													4	26					0	0	0	0	G	10132193	C	G	10132193	3	3	270	1	0	0	0	0	1	0	0	0	6813	825	29	2	1422	2	GRHL1	2	10132193	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08		10132193	233067180	65	48053											
GREB1	9687	broad.mit.edu	37	chr2	11774361	11774361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgggcctgcggaagtGgtccagcaagacccgggcca	7	5	15	14	2	0	1	0	0	0	1	1	2	1	2	5	4	3	2	5	4	2	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:11774361G>T	ENST00000381486.2	+	29	5396	c.5096G>T	c.(5095-5097)tGg>tTg	p.W1699L	GREB1_ENST00000234142.5_Missense_Mutation_p.W1699L|GREB1_ENST00000396123.1_Missense_Mutation_p.W697L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1699						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGCGGAAGTGGTCCAGCAAG	0.607													16	64					6.31663e-08	6.67638e-08	1	0	T	11774361	G	T	11774361	3	4	270	1	0	0	0	0	1	0	0	0	6810	1357	47	4	5314	4	GREB1	2	11774361	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1642168	11774361	231425012	66	48054											
RAD51AP2	729475	broad.mit.edu	37	chr2	17699613	17699613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttgggaatccgggtcctCaggaggcgttaaagaggagg	9	8	18	6	2	1	1	1	0	0	1	3	4	3	4	2	7	0	2	2	7	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:17699613C>T	ENST00000399080.2	-	1	93	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	24										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCGGGTCCTCAGGAGGCGTT	0.602													40	109					0	0	0	0	T	17699613	C	T	17699613	3	4	270	1	0	0	0	0	1	0	0	0	13069	835	29	2	3421	2	RAD51AP2	2	17699613	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	5925252	17699613	225499760	67	48055											
WDR35	57539	broad.mit.edu	37	chr2	20130163	20130163	+	Nonsense_Mutation	SNP	T	T	A																															ggtgacatgcccacctgtctTcagtgcagtgtccacacatc																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:20130163T>A	ENST00000345530.3	-	26	3263	c.3148A>T	c.(3148-3150)Aag>Tag	p.K1050*	WDR35_ENST00000416055.2_Nonsense_Mutation_p.K523*|WDR35_ENST00000281405.4_Nonsense_Mutation_p.K1039*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1050										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACCTGTCTTCAGTGCAGTG	0.433													19	173					0	0	0	0	A	20130163	T	A	20130163	4	1	270	1	0	0	0	0	0	1	0	0	17385	1792	62	5	409	5	WDR35	2	20130163	Nonsense_Mutation	SNP	T	TCGA-CV-6961-01A-21D-1912-08	2430550	20130163	223069210	68	48056	369	3									
WDR35	57539	broad.mit.edu	37	chr2	20130164	20130164	+	Silent	SNP	C	C	T																															gtgacatgcccacctgtcttCagtgcagtgtccacacatcc																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:20130164C>T	ENST00000345530.3	-	26	3262	c.3147G>A	c.(3145-3147)ctG>ctA	p.L1049L	WDR35_ENST00000416055.2_Silent_p.L522L|WDR35_ENST00000281405.4_Silent_p.L1038L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1049										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGTCTTCAGTGCAGTGT	0.438													18	174					0	0	0	0	T	20130164	C	T	20130164	2	4	270	1	0	0	0	0	0	0	0	1	17385	813	29	2		2	WDR35	2	20130164	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1	20130164	223069209	69	48057	369	3									
WDR35	57539	broad.mit.edu	37	chr2	20130165	20130165	+	Missense_Mutation	SNP	A	A	G																															tgacatgcccacctgtcttcAgtgcagtgtccacacatccc																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:20130165A>G	ENST00000345530.3	-	26	3261	c.3146T>C	c.(3145-3147)cTg>cCg	p.L1049P	WDR35_ENST00000416055.2_Missense_Mutation_p.L522P|WDR35_ENST00000281405.4_Missense_Mutation_p.L1038P	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1049										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGTCTTCAGTGCAGTGTC	0.438													18	174					0	0	0	0	G	20130165	A	G	20130165	3	3	270	1	0	0	0	0	1	0	0	0	17385	188	7	5	411	5	WDR35	2	20130165	Missense_Mutation	SNP	A	TCGA-CV-6961-01A-21D-1912-08	1	20130165	223069208	70	48058	369	3									
APOB	338	broad.mit.edu	37	chr2	21238409	21238409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttttctttcttcctttGtgtcacaactatggtaaaga	9	19	6	7	0	3	2	1	1	2	1	4	2	4	2	1	1	1	1	1	1	4	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:21238409G>A	ENST00000233242.1	-	22	3468	c.3341C>T	c.(3340-3342)aCa>aTa	p.T1114I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1114					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCTTCCTTTGTGTCACAACT	0.423													6	33					0	0	0	0	A	21238409	G	A	21238409	3	1	270	1	0	0	0	0	1	0	0	0	787	1377	48	4	10382	4	APOB	2	21238409	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1108244	21238409	221960964	71	48059											
CAD	790	broad.mit.edu	37	chr2	27463930	27463930	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatccctcactgcagagctGatgggaacccctgatggcac	9	7	10	15	0	1	3	1	2	0	1	2	4	2	4	4	2	3	3	4	2	1	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:27463930G>A	ENST00000264705.4	+	37	5805	c.5643G>A	c.(5641-5643)ctG>ctA	p.L1881L	CAD_ENST00000403525.1_Silent_p.L1818L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1881	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTGCAGAGCTGATGGGAACCC	0.622													43	101					0	0	0	0	A	27463930	G	A	27463930	2	1	270	1	0	0	0	0	0	0	0	1	2590	1277	45	2		2	CAD	2	27463930	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	6225521	27463930	215735443	72	48060											
EPCAM	4072	broad.mit.edu	37	chr2	47601169	47601169	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacactgaaataacctgctCtgagcgagtgagaacctagt	13	8	11	9	1	1	3	0	3	1	1	1	6	1	4	2	1	4	1	2	1	4	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:47601169C>G	ENST00000263735.4	+	3	765	c.407C>G	c.(406-408)tCt>tGt	p.S136C	EPCAM_ENST00000405271.1_Missense_Mutation_p.S164C	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	136					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						ATAACCTGCTCTGAGCGAGTG	0.433													8	39					0	0	0	0	G	47601169	C	G	47601169	3	3	270	1	0	0	0	0	1	0	0	0	5200	913	32	2	417	2	EPCAM	2	47601169	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	20137239	47601169	195598204	73	48061											
RPS27A	6233	broad.mit.edu	37	chr2	55460509	55460509	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acactcataggttgaaccctCggatacgatagaaaatgtaa	16	9	8	8	2	1	2	1	1	0	1	2	4	1	3	1	2	2	2	1	2	7	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:55460509C>G	ENST00000272317.6	+	3	383	c.59C>G	c.(58-60)tCg>tGg	p.S20W	RPS27A_ENST00000402285.3_Missense_Mutation_p.S20W|RPS27A_ENST00000404735.1_Missense_Mutation_p.S20W	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	20	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						GTTGAACCCTCGGATACGATA	0.408													4	30					0	0	0	0	G	55460509	C	G	55460509	3	3	270	1	0	0	0	0	1	0	0	0	13724	893	31	3	65	3	RPS27A	2	55460509	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	7859340	55460509	187738864	74	48062											
AAK1	22848	broad.mit.edu	37	chr2	69704114	69704114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgagatgagattactatCttctgcagcttaatacagaa	14	12	7	8	0	2	3	0	2	2	3	2	5	2	3	1	0	4	2	1	0	5	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:69704114C>T	ENST00000409085.4	-	21	3065	c.2689G>A	c.(2689-2691)Gat>Aat	p.D897N	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	897						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						AGATTACTATCTTCTGCAGCT	0.423													3	11					0	0	0	0	T	69704114	C	T	69704114	3	4	270	1	0	0	0	0	1	0	0	0	16	913	32	2	204	2	AAK1	2	69704114	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	14243605	69704114	173495259	75	48063											
ADD2	119	broad.mit.edu	37	chr2	70900406	70900406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatgtggagggcaacgctGaagaactcgcacacggccgg	11	4	15	11	4	0	3	0	1	0	2	1	4	0	4	1	4	2	3	1	4	3	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:70900406G>A	ENST00000355733.3	-	15	2238	c.1794C>T	c.(1792-1794)ttC>ttT	p.F598F	ADD2_ENST00000264436.3_Intron|ADD2_ENST00000407644.2_Intron	NM_017488.3	NP_059522.1	P35612	ADDB_HUMAN	adducin 2 (beta)	0					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGGCAACGCTGAAGAACTCGC	0.542													12	43					0	0	0	0	A	70900406	G	A	70900406	2	1	270	1	0	0	0	0	0	0	0	1	305	1281	45	2		2	ADD2	2	70900406	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1196292	70900406	172298967	76	48064											
STAMBP	10617	broad.mit.edu	37	chr2	74074516	74074516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattttctctctttgtagaaGaaggaagcagaggaattggc	13	12	11	5	0	2	3	0	0	2	3	3	5	2	5	0	3	1	2	0	3	6	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:74074516G>C	ENST00000394070.2	+	5	881	c.378G>C	c.(376-378)aaG>aaC	p.K126N	STAMBP_ENST00000536064.1_Missense_Mutation_p.K126N|STAMBP_ENST00000339566.3_Missense_Mutation_p.K126N|STAMBP_ENST00000409707.1_Missense_Mutation_p.K126N|STAMBP_ENST00000394073.1_Missense_Mutation_p.K126N	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	126	Glu-rich.|Interaction with CHMP3.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CTTTGTAGAAGAAGGAAGCAG	0.448													8	29					0	0	0	0	C	74074516	G	C	74074516	3	2	270	1	0	0	0	0	1	0	0	0	15340	933	33	2	392	2	STAMBP	2	74074516	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3174110	74074516	169124857	77	48065											
MOGS	7841	broad.mit.edu	37	chr2	74690021	74690021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagggatcctggcaagcCgaggtagcgttcaggggggg	7	7	18	9	2	2	0	2	0	0	0	3	2	3	1	2	6	2	3	2	6	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:74690021C>T	ENST00000233616.4	-	4	1057	c.895G>A	c.(895-897)Ggc>Agc	p.G299S	MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.G193S|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	299					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	p.G299C(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CCTGGCAAGCCGAGGTAGCGT	0.582													51	134					0	0	0	0	T	74690021	C	T	74690021	3	4	270	1	0	0	0	0	1	0	0	0	9767	652	23	1	1622	1	MOGS	2	74690021	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	615505	74690021	168509352	78	48066											
CAPG	822	broad.mit.edu	37	chr2	85628366	85628366	+	Silent	SNP	C	C	T																															cgctcggtggcacggatgttCttcttccccttcacctggta																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:85628366C>T	ENST00000263867.4	-	5	687	c.438G>A	c.(436-438)aaG>aaA	p.K146K	CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409724.1_Silent_p.K146K|CAPG_ENST00000409670.1_Silent_p.K146K|CAPG_ENST00000409921.1_Silent_p.K146K	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	146					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						CACGGATGTTCTTCTTCCCCT	0.592													34	96					0	0	0	0	T	85628366	C	T	85628366	2	4	270	1	0	0	0	0	0	0	0	1	2646	912	32	2		2	CAPG	2	85628366	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	10938345	85628366	157571007	79	48067	370	2									
CAPG	822	broad.mit.edu	37	chr2	85628369	85628369	+	Missense_Mutation	SNP	C	C	A																															tcggtggcacggatgttcttCttccccttcacctggtagag																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:85628369C>A	ENST00000263867.4	-	5	684	c.435G>T	c.(433-435)aaG>aaT	p.K145N	CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409724.1_Missense_Mutation_p.K145N|CAPG_ENST00000409670.1_Missense_Mutation_p.K145N|CAPG_ENST00000409921.1_Missense_Mutation_p.K145N	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	145					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GGATGTTCTTCTTCCCCTTCA	0.602													34	95					2.75727e-19	3.03072e-19	1	0	A	85628369	C	A	85628369	3	1	270	1	0	0	0	0	1	0	0	0	2646	912	32	2	635	2	CAPG	2	85628369	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	3	85628369	157571004	80	48068	370	2									
TTL	150465	broad.mit.edu	37	chr2	113258824	113258824	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagaggcttcagagcttctcGatttcatagacaaccagggc	11	9	10	11	1	3	3	2	0	1	3	4	4	3	3	1	2	2	2	1	2	2	4	rs2943625		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:113258824G>C	ENST00000233336.5	+	4	702	c.511G>C	c.(511-513)Gat>Cat	p.D171H		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	171	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AGAGCTTCTCGATTTCATAGA	0.458			T	ETV6	ALL								9	50					0	0	0	0	C	113258824	G	C	113258824	3	2	270	1	0	0	0	0	1	0	0	0	16817	1058	37	3	525	3	TTL	2	113258824	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	27630455	113258824	129940549	81	48069											
TTL	150465	broad.mit.edu	37	chr2	113258890	113258890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagcaccctctgctgcttGagccaggtcatcgcaagttt	7	12	10	12	1	2	2	1	2	1	0	3	2	2	2	2	1	4	5	2	1	1	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:113258890G>C	ENST00000233336.5	+	4	768	c.577G>C	c.(577-579)Gag>Cag	p.E193Q		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	193	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCTGCTGCTTGAGCCAGGTCA	0.463			T	ETV6	ALL								13	49					0	0	0	0	C	113258890	G	C	113258890	3	2	270	1	0	0	0	0	1	0	0	0	16817	1291	45	2	591	2	TTL	2	113258890	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	66	113258890	129940483	82	48070											
CLASP1	23332	broad.mit.edu	37	chr2	122165228	122165228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagcaaacacttgaggcatCactgttggcatcatcgtcag	12	9	10	10	1	3	2	3	1	0	1	4	2	3	2	0	2	2	4	0	2	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:122165228C>T	ENST00000263710.4	-	25	2877	c.2488G>A	c.(2488-2490)Gat>Aat	p.D830N	CLASP1_ENST00000397587.3_Missense_Mutation_p.D810N|CLASP1_ENST00000541859.1_Missense_Mutation_p.D563N|CLASP1_ENST00000545861.1_Missense_Mutation_p.D577N|CLASP1_ENST00000409078.3_Missense_Mutation_p.D802N|CLASP1_ENST00000455322.2_Missense_Mutation_p.D802N|CLASP1_ENST00000541377.1_Missense_Mutation_p.D808N	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	830					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTGAGGCATCACTGTTGGCA	0.502													38	115					0	0	0	0	T	122165228	C	T	122165228	3	4	270	1	0	0	0	0	1	0	0	0	3484	826	29	2	2188	2	CLASP1	2	122165228	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	8906338	122165228	121034145	83	48071											
LIMS2	55679	broad.mit.edu	37	chr2	128415128	128415128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcgttggccaaggcgtccGacatattgctgggggcagga	7	7	17	10	4	0	0	0	0	0	0	1	2	1	1	2	6	1	3	2	6	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:128415128G>A	ENST00000409455.1	-	2	640	c.5C>T	c.(4-6)tCg>tTg	p.S2L	LIMS2_ENST00000545738.2_Missense_Mutation_p.S29L|LIMS2_ENST00000324938.5_Missense_Mutation_p.S31L|LIMS2_ENST00000355119.4_Missense_Mutation_p.S7L|LIMS2_ENST00000410011.1_Missense_Mutation_p.S2L|LIMS2_ENST00000409808.2_Missense_Mutation_p.S2L			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	7					cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CAAGGCGTCCGACATATTGCT	0.662													24	61					0	0	0	0	A	128415128	G	A	128415128	3	1	270	1	0	0	0	0	1	0	0	0	8858	1059	37	1	1041	1	LIMS2	2	128415128	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	6249900	128415128	114784245	84	48072											
R3HDM1	23518	broad.mit.edu	37	chr2	136399347	136399347	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacctggcagtattctgatCaacccacaaacaggttggta	12	9	8	12	0	2	1	1	1	1	0	2	1	2	1	3	3	2	4	3	3	4	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:136399347C>T	ENST00000264160.4	+	15	1831	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	R3HDM1_ENST00000410054.1_Silent_p.I431I|R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000409606.1_Silent_p.I487I	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	487							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GTATTCTGATCAACCCACAAA	0.418													14	47					0	0	0	0	T	136399347	C	T	136399347	2	4	270	1	0	0	0	0	0	0	0	1	12969	816	29	2		2	R3HDM1	2	136399347	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	7984219	136399347	106800026	85	48073											
NEB	4703	broad.mit.edu	37	chr2	152381070	152381070	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgtggccttcttgatgtCtggtcgatcagccactgtgg	4	14	13	10	1	3	1	1	1	2	0	4	2	3	1	2	3	1	0	2	3	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:152381070C>G	ENST00000397345.3	-	152	22535	c.22333G>C	c.(22333-22335)Gac>Cac	p.D7445H	NEB_ENST00000604864.1_Missense_Mutation_p.D7445H|NEB_ENST00000409198.1_Missense_Mutation_p.D5744H|NEB_ENST00000427231.2_Missense_Mutation_p.D7445H|NEB_ENST00000603639.1_Missense_Mutation_p.D7445H|NEB_ENST00000172853.10_Missense_Mutation_p.D5744H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5744					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTGATGTCTGGTCGATCA	0.502													49	146					0	0	0	0	G	152381070	C	G	152381070	3	3	270	1	0	0	0	0	1	0	0	0	10372	913	32	2	3368	2	NEB	2	152381070	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	15981723	152381070	90818303	86	48074											
KCNJ3	3760	broad.mit.edu	37	chr2	155555807	155555807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggctccatcgtggacGccttcctcatcggctgcatg	4	11	11	15	3	1	0	1	0	0	0	6	1	4	1	4	3	1	3	4	3	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:155555807G>A	ENST00000295101.2	+	1	997	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	KCNJ3_ENST00000544049.1_Missense_Mutation_p.A174T	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	174					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CATCGTGGACGCCTTCCTCAT	0.597													13	49					0	0	0	0	A	155555807	G	A	155555807	3	1	270	1	0	0	0	0	1	0	0	0	8105	1087	38	1	522	1	KCNJ3	2	155555807	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3174737	155555807	87643566	87	48075											
TANC1	85461	broad.mit.edu	37	chr2	160087378	160087378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgccaaattccagtccactCtcaagagaacaggataacta	15	8	7	11	0	1	1	1	0	1	1	4	3	3	2	3	1	3	0	3	1	5	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:160087378C>T	ENST00000263635.6	+	27	5678	c.5441C>T	c.(5440-5442)tCt>tTt	p.S1814F	TANC1_ENST00000454300.1_Missense_Mutation_p.S1708F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1814						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCAGTCCACTCTCAAGAGAAC	0.463													8	43					0	0	0	0	T	160087378	C	T	160087378	3	4	270	1	0	0	0	0	1	0	0	0	15635	913	32	2	5544	2	TANC1	2	160087378	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	4531571	160087378	83111995	88	48076											
SCN2A	6326	broad.mit.edu	37	chr2	166210745	166210745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttttgagttccttcagttCtgacaatcttgctgccactg	6	16	8	11	0	3	2	1	2	2	0	4	2	4	2	2	0	2	4	2	0	1	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:166210745C>T	ENST00000357398.3	+	17	3253	c.2963C>T	c.(2962-2964)tCt>tTt	p.S988F	SCN2A_ENST00000283256.6_Missense_Mutation_p.S988F|SCN2A_ENST00000375437.2_Missense_Mutation_p.S988F|SCN2A_ENST00000375427.2_Missense_Mutation_p.S988F			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	988					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCCTTCAGTTCTGACAATCTT	0.383													40	171					0	0	0	0	T	166210745	C	T	166210745	3	4	270	1	0	0	0	0	1	0	0	0	14003	913	32	2	3121	2	SCN2A	2	166210745	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	6123367	166210745	76988628	89	48077											
SCN1A	6323	broad.mit.edu	37	chr2	166900256	166900256	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgtaggaactgaaggtcCaccaaccaaggaaaccacac	16	4	9	12	1	0	1	0	1	0	0	1	4	1	3	4	3	3	1	4	3	6	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:166900256C>A	ENST00000423058.2	-	11	1983	c.1966G>T	c.(1966-1968)Gga>Tga	p.G656*	SCN1A_ENST00000409050.1_Intron|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.G656*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.G656*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	656						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACTGAAGGTCCACCAACCAAG	0.478													6	75					8.12818e-05	8.40193e-05	1	0	A	166900256	C	A	166900256	4	1	270	1	0	0	0	0	0	1	0	0	14001	603	21	4	4127	4	SCN1A	2	166900256	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	689511	166900256	76299117	90	48078											
NOSTRIN	115677	broad.mit.edu	37	chr2	169684718	169684718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagggaatgaaatccacagCggacctgcatcagtgagttc	13	7	12	9	1	1	3	1	2	0	1	3	5	2	5	2	2	2	2	2	2	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:169684718C>T	ENST00000444448.2	+	6	724	c.248C>T	c.(247-249)gCg>gTg	p.A83V	NOSTRIN_ENST00000458381.2_Missense_Mutation_p.A83V|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.A55V|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.A5V|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.A55V|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.A83V|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.A5V			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	83					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AAATCCACAGCGGACCTGCAT	0.463													14	48					0	0	0	0	T	169684718	C	T	169684718	3	4	270	1	0	0	0	0	1	0	0	0	10616	768	27	1	262	1	NOSTRIN	2	169684718	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2784462	169684718	73514655	91	48079											
HOXD8	3234	broad.mit.edu	37	chr2	176995585	176995585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaatatcctgactgtaaatCgtccagtggtaatattggcg	12	12	9	8	2	0	1	0	1	0	0	3	1	2	1	2	2	0	2	2	2	6	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:176995585C>T	ENST00000313173.4	+	1	1118	c.491C>T	c.(490-492)tCg>tTg	p.S164L	HOXD8_ENST00000429017.1_5'UTR|HOXD8_ENST00000548663.1_Missense_Mutation_p.S60L|HOXD8_ENST00000450510.2_Missense_Mutation_p.S164L|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.S164L	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	164					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GACTGTAAATCGTCCAGTGGT	0.488													25	118					0	0	0	0	T	176995585	C	T	176995585	3	4	270	1	0	0	0	0	1	0	0	0	7375	893	31	1	493	1	HOXD8	2	176995585	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	7310867	176995585	66203788	92	48080											
TTN	7273	broad.mit.edu	37	chr2	179398942	179398942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagaaactgggccaatttCaatggatgccactttaactt	12	11	7	11	0	1	1	1	0	0	1	1	2	1	2	3	2	3	0	3	2	4	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:179398942C>T	ENST00000589042.1	-	358	102624	c.102400G>A	c.(102400-102402)Gaa>Aaa	p.E34134K	TTN_ENST00000342992.6_Missense_Mutation_p.E31566K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25069K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25194K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25261K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32493K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32493	Ig-like 151.|Ser-rich.						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)			GGGCCAATTTCAATGGATGCC	0.443													30	86					0	0	0	0	T	179398942	C	T	179398942	3	4	270	1	0	0	0	0	1	0	0	0	16831	835	29	2	5599	2	TTN	2	179398942	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2403357	179398942	63800431	93	48081											
TTN	7273	broad.mit.edu	37	chr2	179498729	179498729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacatgcattttttcatgaGaaagttcacaaacaaaagtt	16	13	5	7	0	2	1	2	1	0	1	2	2	2	1	0	0	3	3	0	0	5	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:179498729G>A	ENST00000589042.1	-	231	42721	c.42497C>T	c.(42496-42498)tCt>tTt	p.S14166F	TTN_ENST00000342992.6_Missense_Mutation_p.S11598F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S5101F|TTN_ENST00000359218.5_Missense_Mutation_p.S5226F|TTN_ENST00000342175.6_Missense_Mutation_p.S5293F|TTN_ENST00000591111.1_Missense_Mutation_p.S12525F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12525	Fibronectin type-III 2.						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)			TTTTTCATGAGAAAGTTCACA	0.368													69	156					0	0	0	0	A	179498729	G	A	179498729	3	1	270	1	0	0	0	0	1	0	0	0	16831	942	33	2	65724	2	TTN	2	179498729	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	99787	179498729	63700644	94	48082											
ZNF385B	151126	broad.mit.edu	37	chr2	180634445	180634445	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctgtcgttctttatccccTtttcttcaaagccccgtaga	6	15	6	14	2	3	1	1	0	2	1	5	1	4	1	5	0	1	2	5	0	3	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:180634445T>C	ENST00000410066.1	-	3	641	c.38A>G	c.(37-39)aAg>aGg	p.K13R		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	13						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CTTTATCCCCTTTTCTTCAAA	0.423													3	87					0	0	0	0	C	180634445	T	C	180634445	3	2	270	1	0	0	0	0	1	0	0	0	17972	1609	56	5	1438	5	ZNF385B	2	180634445	Missense_Mutation	SNP	T	TCGA-CV-6961-01A-21D-1912-08	1135716	180634445	62564928	95	48083											
SSFA2	6744	broad.mit.edu	37	chr2	182763789	182763789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttacagtttcatcagaaaggGagaagtatgaattccactgg	14	11	10	6	0	2	3	2	1	0	2	3	4	3	3	1	2	1	2	1	2	5	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:182763789G>A	ENST00000431877.2	+	6	632	c.453G>A	c.(451-453)ggG>ggA	p.G151G	SSFA2_ENST00000428267.2_5'UTR|SSFA2_ENST00000409001.1_Silent_p.G151G|SSFA2_ENST00000320370.7_Silent_p.G151G	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	151						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ATCAGAAAGGGAGAAGTATGA	0.323													5	27					0	0	0	0	A	182763789	G	A	182763789	2	1	270	1	0	0	0	0	0	0	0	1	15273	1161	41	2		2	SSFA2	2	182763789	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2129344	182763789	60435584	96	48084											
OSGEPL1	64172	broad.mit.edu	37	chr2	190626240	190626240	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtatcatcacaactagtttCaattcccaatactattttat	13	17	2	9	0	3	0	3	0	0	0	4	0	4	0	1	0	2	2	1	0	8	8			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:190626240C>G	ENST00000519810.1	-	3	469	c.127G>C	c.(127-129)Gaa>Caa	p.E43Q	OSGEPL1_ENST00000264151.5_Missense_Mutation_p.E43Q|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.E43Q			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	43					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			CAACTAGTTTCAATTCCCAAT	0.313													10	78					0	0	0	0	G	190626240	C	G	190626240	3	3	270	1	0	0	0	0	1	0	0	0	11359	835	29	2	1145	2	OSGEPL1	2	190626240	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	7862451	190626240	52573133	97	48085											
INPP1	3628	broad.mit.edu	37	chr2	191235867	191235867	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcagaagataccacattCaaatgggactcttgtgctgc	11	13	8	9	0	3	2	2	0	1	2	3	3	3	3	1	1	3	1	1	1	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:191235867C>G	ENST00000392329.2	+	7	1639	c.939C>G	c.(937-939)ttC>ttG	p.F313L	INPP1_ENST00000322522.4_Missense_Mutation_p.F313L|INPP1_ENST00000541441.1_Missense_Mutation_p.F313L	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	313					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	ATACCACATTCAAATGGGACT	0.468													15	55					0	0	0	0	G	191235867	C	G	191235867	3	3	270	1	0	0	0	0	1	0	0	0	7804	825	29	2	957	2	INPP1	2	191235867	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	609627	191235867	51963506	98	48086											
STAT4	6775	broad.mit.edu	37	chr2	191895766	191895766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacttggagacatgggaaGaaggtctgatggagaatgtg	13	8	15	5	0	1	4	0	1	1	3	1	7	1	5	0	4	0	0	0	4	3	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:191895766G>A	ENST00000392320.2	-	23	2466	c.2152C>T	c.(2152-2154)Ctt>Ttt	p.L718F	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.L718F	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	718					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GACATGGGAAGAAGGTCTGAT	0.403													35	146					0	0	0	0	A	191895766	G	A	191895766	3	1	270	1	0	0	0	0	1	0	0	0	15357	942	33	2	102	2	STAT4	2	191895766	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	659899	191895766	51303607	99	48087											
SATB2	23314	broad.mit.edu	37	chr2	200173562	200173562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactcctcctcatagatgAcatccctctcatgctgggga	8	12	8	13	0	2	3	2	2	1	1	6	4	5	4	3	2	1	1	3	2	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:200173562A>G	ENST00000443023.1	-	9	2949	c.1484T>C	c.(1483-1485)gTc>gCc	p.V495A	SATB2_ENST00000417098.1_Missense_Mutation_p.V554A|SATB2_ENST00000457245.1_Missense_Mutation_p.V554A|SATB2_ENST00000260926.5_Missense_Mutation_p.V554A|SATB2_ENST00000428695.1_Missense_Mutation_p.V436A			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	554						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCATAGATGACATCCCTCTC	0.597													21	76					0	0	0	0	G	200173562	A	G	200173562	3	3	270	1	0	0	0	0	1	0	0	0	13940	275	10	5	548	5	SATB2	2	200173562	Missense_Mutation	SNP	A	TCGA-CV-6961-01A-21D-1912-08	8277796	200173562	43025811	100	48088											
BMPR2	659	broad.mit.edu	37	chr2	203395617	203395617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgactttggactgtccatGaggctgactggaaatagact	11	11	12	7	0	0	4	0	3	0	1	1	6	1	6	1	3	0	1	1	3	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:203395617G>A	ENST00000374580.4	+	8	1607	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	BMPR2_ENST00000374574.2_Missense_Mutation_p.M356I	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	356	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GACTGTCCATGAGGCTGACTG	0.418													9	23					0	0	0	0	A	203395617	G	A	203395617	3	1	270	1	0	0	0	0	1	0	0	0	1476	1290	45	2	1098	2	BMPR2	2	203395617	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3222055	203395617	39803756	101	48089											
PARD3B	117583	broad.mit.edu	37	chr2	206166459	206166459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaggcaaagttggttctCattttgtctctcctggtaaa	9	16	9	7	0	2	1	1	1	2	0	5	1	3	1	1	3	0	4	1	3	4	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:206166459C>T	ENST00000462231.1	+	18	2824	c.2664C>T	c.(2662-2664)ctC>ctT	p.L888L	PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000406610.2_Intron|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000351153.1_Intron			Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	0	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGTTGGTTCTCATTTTGTCTC	0.458													15	40					0	0	0	0	T	206166459	C	T	206166459	2	4	270	1	0	0	0	0	0	0	0	1	11515	841	29	2		2	PARD3B	2	206166459	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2770842	206166459	37032914	102	48090											
GPR1	2825	broad.mit.edu	37	chr2	207041250	207041250	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgtccagaaatgcctactgGagatcaggatgcttcgcttc	9	12	10	10	1	1	2	1	0	0	2	4	4	2	3	2	2	3	2	2	2	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:207041250G>C	ENST00000407325.2	-	3	1084	c.722C>G	c.(721-723)tCc>tGc	p.S241C	GPR1_ENST00000437420.1_Missense_Mutation_p.S241C	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	241						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		ATGCCTACTGGAGATCAGGAT	0.443													7	38					0	0	0	0	C	207041250	G	C	207041250	3	2	270	1	0	0	0	0	1	0	0	0	6670	1174	41	2	349	2	GPR1	2	207041250	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	874791	207041250	36158123	103	48091											
CXCR2	3579	broad.mit.edu	37	chr2	219000410	219000410	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaatcacatcgaccgggctCtggatgccaccgagattctg	9	8	11	13	3	3	1	1	0	2	1	4	4	3	2	3	2	1	2	3	2	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:219000410C>T	ENST00000318507.2	+	3	1313	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	296					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CGACCGGGCTCTGGATGCCAC	0.587													34	74					0	0	0	0	T	219000410	C	T	219000410	2	4	270	1	0	0	0	0	0	0	0	1	4123	912	32	2		2	CXCR2	2	219000410	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	11959160	219000410	24198963	104	48092											
PRKAG3	53632	broad.mit.edu	37	chr2	219695504	219695504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggctccccttcctccaccGacttctgccttgtccatctc	3	13	6	19	1	2	0	0	0	2	0	7	1	6	0	7	1	1	1	7	1	0	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:219695504G>A	ENST00000439262.2	-	3	214	c.119C>T	c.(118-120)tCg>tTg	p.S40L	PRKAG3_ENST00000529249.1_Missense_Mutation_p.S65L|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Missense_Mutation_p.S65L	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	65					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCTCCACCGACTTCTGCCT	0.607													28	61					0	0	0	0	A	219695504	G	A	219695504	3	1	270	1	0	0	0	0	1	0	0	0	12582	1059	37	1	1319	1	PRKAG3	2	219695504	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	695094	219695504	23503869	105	48093											
ANKZF1	55139	broad.mit.edu	37	chr2	220099962	220099962	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggctttactctcctgcAtgcagcagctgcagctggaa	7	10	12	12	1	1	0	0	0	1	0	2	1	1	1	1	3	7	7	1	3	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:220099962A>T	ENST00000323348.5	+	10	1793	c.1619A>T	c.(1618-1620)cAt>cTt	p.H540L	ANKZF1_ENST00000410034.3_Missense_Mutation_p.H540L|ANKZF1_ENST00000409849.1_Missense_Mutation_p.H330L	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	540						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCTCCTGCATGCAGCAGCT	0.587													28	60					0	0	0	0	T	220099962	A	T	220099962	3	4	270	1	0	0	0	0	1	0	0	0	692	217	8	5	1653	5	ANKZF1	2	220099962	Missense_Mutation	SNP	A	TCGA-CV-6961-01A-21D-1912-08	404458	220099962	23099411	106	48094											
ANKZF1	55139	broad.mit.edu	37	chr2	220101166	220101166	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagggaggccctcttcctGatctcttacagctctacctg	6	11	10	14	0	3	1	0	1	3	0	5	2	4	2	3	3	3	2	3	3	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:220101166G>A	ENST00000323348.5	+	14	2354	c.2180G>A	c.(2179-2181)tGa>tAa	p.*727*	ANKZF1_ENST00000410034.3_Silent_p.*727*|ANKZF1_ENST00000409849.1_Silent_p.*517*	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	0						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCTTCCTGATCTCTTACA	0.557													12	38					0	0	0	0	A	220101166	G	A	220101166	2	1	270	1	0	0	0	0	0	0	0	1	692	1285	45	2		2	ANKZF1	2	220101166	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1204	220101166	23098207	107	48095											
TMEM198	130612	broad.mit.edu	37	chr2	220412742	220412742	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcactctggcccctgctCagcctgatgggcgttctggt	3	11	13	14	1	3	1	1	1	2	0	3	1	3	1	3	4	2	3	3	4	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:220412742C>T	ENST00000344458.2	+	4	1266	c.681C>T	c.(679-681)ctC>ctT	p.L227L	TMEM198_ENST00000373883.3_Silent_p.L227L			Q66K66	TM198_HUMAN	transmembrane protein 198	227	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCCCCTGCTCAGCCTGATGG	0.667													3	12					0	0	0	0	T	220412742	C	T	220412742	2	4	270	1	0	0	0	0	0	0	0	1	16213	813	29	2		2	TMEM198	2	220412742	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	311576	220412742	22786631	108	48096											
MOGAT1	116255	broad.mit.edu	37	chr2	223559247	223559247	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatttgttaaaattgctttGacccatgggtaagtggcttt	9	16	11	5	0	0	1	0	1	0	0	0	2	0	2	1	3	1	4	1	3	3	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:223559247G>C	ENST00000446656.3	+	4	645	c.645G>C	c.(643-645)ttG>ttC	p.L215F		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	215					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		AAATTGCTTTGACCCATGGGT	0.413													10	23					0	0	0	0	C	223559247	G	C	223559247	3	2	270	1	0	0	0	0	1	0	0	0	9764	1281	45	2	659	2	MOGAT1	2	223559247	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3146505	223559247	19640126	109	48097											
SLC16A14	151473	broad.mit.edu	37	chr2	230902183	230902183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtaaaaagagtattcctatCatgtaaagcaaaccacatat	19	10	5	7	0	1	1	1	0	0	1	2	1	2	1	2	0	2	4	2	0	9	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:230902183C>G	ENST00000295190.4	-	5	1904	c.1446G>C	c.(1444-1446)atG>atC	p.M482I		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	482						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GTATTCCTATCATGTAAAGCA	0.328													6	31					0	0	0	0	G	230902183	C	G	230902183	3	3	270	1	0	0	0	0	1	0	0	0	14495	826	29	2	90	2	SLC16A14	2	230902183	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	7342936	230902183	12297190	110	48098											
C2orf57	165100	broad.mit.edu	37	chr2	232458485	232458485	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaacagctacatgcgcTccatgaccagcctgctggac	11	6	11	13	1	0	2	0	1	0	1	1	4	1	3	3	2	6	3	3	2	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:232458485T>C	ENST00000313965.2	+	1	911	c.823T>C	c.(823-825)Tcc>Ccc	p.S275P		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	275										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTACATGCGCTCCATGACCAG	0.662													3	88					0	0	0	0	C	232458485	T	C	232458485	3	2	270	1	0	0	0	0	1	0	0	0	2198	1551	54	5	825	5	C2orf57	2	232458485	Missense_Mutation	SNP	T	TCGA-CV-6961-01A-21D-1912-08	1556302	232458485	10740888	111	48099											
DIS3L2	129563	broad.mit.edu	37	chr2	233001212	233001212	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcttggagaaaaaacattctCgagcagcaaccggcttcctc	12	9	8	12	2	2	1	0	0	2	1	5	3	3	1	2	2	4	3	2	2	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:233001212C>G	ENST00000325385.7	+	8	1009	c.733C>G	c.(733-735)Cga>Gga	p.R245G	DIS3L2_ENST00000409307.1_Missense_Mutation_p.R245G|DIS3L2_ENST00000273009.6_Missense_Mutation_p.R245G|DIS3L2_ENST00000360410.4_Silent_p.L264L	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	245							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AAAACATTCTCGAGCAGCAAC	0.433													21	85					0	0	0	0	G	233001212	C	G	233001212	3	3	270	1	0	0	0	0	1	0	0	0	4574	876	31	3	759	3	DIS3L2	2	233001212	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	542727	233001212	10198161	112	48100											
ALPI	248	broad.mit.edu	37	chr2	233321905	233321905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacgggtgcagcacgcctCgccagccggcacctacgcac	8	3	11	19	5	0	0	0	0	0	0	1	0	0	0	4	2	4	4	4	2	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:233321905C>T	ENST00000295463.3	+	5	598	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	174					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAGCACGCCTCGCCAGCCGGC	0.627													16	50					0	0	0	0	T	233321905	C	T	233321905	3	4	270	1	0	0	0	0	1	0	0	0	543	893	31	1	539	1	ALPI	2	233321905	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	320693	233321905	9877468	113	48101											
INPP5D	3635	broad.mit.edu	37	chr2	234091127	234091127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggcaggagtcacttccCagtttgtctccaagaacggt	9	11	11	10	1	2	2	1	1	1	1	4	3	3	3	2	3	1	2	2	3	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:234091127C>A	ENST00000359570.5	+	21	2107	c.2107C>A	c.(2107-2109)Cag>Aag	p.Q703K	INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000450745.1_Missense_Mutation_p.Q467K|INPP5D_ENST00000455936.2_Missense_Mutation_p.Q467K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	715					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGTCACTTCCCAGTTTGTCTC	0.507													18	65					1.33834e-09	1.42589e-09	1	0	A	234091127	C	A	234091127	3	1	270	1	0	0	0	0	1	0	0	0	7809	595	21	4	1725	4	INPP5D	2	234091127	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	769222	234091127	9108246	114	48102											
SETD5	55209	broad.mit.edu	37	chr3	9517533	9517533	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacctcagattcagtttctCagtccagcacaggaactctg	11	10	7	13	0	4	1	3	0	2	1	6	2	5	2	2	1	3	2	2	1	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:9517533C>T	ENST00000402466.1	+	24	4561	c.3793C>T	c.(3793-3795)Cag>Tag	p.Q1265*	SETD5_ENST00000302463.6_Nonsense_Mutation_p.Q1265*|SETD5_ENST00000406341.1_Nonsense_Mutation_p.Q1363*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.Q1363*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.Q1382*			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1363	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCAGTTTCTCAGTCCAGCAC	0.552													19	22					0	0	0	0	T	9517533	C	T	9517533	4	4	270	1	0	0	0	0	0	1	0	0	14221	827	29	2	4169	2	SETD5	3	9517533	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08		9517533	188504897	115	48103											
CRELD1	78987	broad.mit.edu	37	chr3	9979762	9979762	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgaagctctgctgcccCgcaggcaccttcgggccctc	4	8	10	19	2	1	1	0	1	1	0	4	1	2	1	5	2	3	4	5	2	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:9979762C>T	ENST00000383811.3	+	4	1031	c.432C>T	c.(430-432)ccC>ccT	p.P144P	CRELD1_ENST00000326434.5_Silent_p.P144P|CRELD1_ENST00000397170.3_Silent_p.P144P|CRELD1_ENST00000452070.1_Silent_p.P144P	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	144					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TCTGCTGCCCCGCAGGCACCT	0.652													5	20					0	0	0	0	T	9979762	C	T	9979762	2	4	270	1	0	0	0	0	0	0	0	1	3896	639	23	1		1	CRELD1	3	9979762	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	462229	9979762	188042668	116	48104											
METTL6	131965	broad.mit.edu	37	chr3	15467880	15467880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctatttcttttgtaaaaaaGatcccaatttttctgagcct	11	17	5	8	0	2	2	0	1	2	1	3	2	3	2	2	0	1	2	2	0	5	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:15467880G>C	ENST00000443029.1	-	2	379	c.139C>G	c.(139-141)Ctt>Gtt	p.L47V	METTL6_ENST00000383789.5_Missense_Mutation_p.L47V|METTL6_ENST00000383790.3_Missense_Mutation_p.L47V|METTL6_ENST00000450816.2_Missense_Mutation_p.L47V			Q8TCB7	METL6_HUMAN	methyltransferase like 6	47							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TTGTAAAAAAGATCCCAATTT	0.373													14	43					0	0	0	0	C	15467880	G	C	15467880	3	2	270	1	0	0	0	0	1	0	0	0	9573	942	33	2	735	2	METTL6	3	15467880	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	5488118	15467880	182554550	117	48105											
EFHB	151651	broad.mit.edu	37	chr3	19924047	19924047	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttatatgctatacctcttCttttgatctggtcttgaaga	8	18	7	8	0	4	3	0	2	4	1	4	3	4	3	1	1	2	2	1	1	5	8			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:19924047C>G	ENST00000295824.9	-	12	2484	c.2323G>C	c.(2323-2325)Gaa>Caa	p.E775Q	EFHB_ENST00000344838.4_Missense_Mutation_p.E645Q	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	775					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TATACCTCTTCTTTTGATCTG	0.299													3	9					0	0	0	0	G	19924047	C	G	19924047	3	3	270	1	0	0	0	0	1	0	0	0	4981	922	32	2	186	2	EFHB	3	19924047	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	4456167	19924047	178098383	118	48106											
TGFBR2	7048	broad.mit.edu	37	chr3	30691947	30691947	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatgacaacatcatcttctCagaaggtgagttttcttctc	11	14	6	10	0	5	3	2	2	4	1	7	3	5	3	0	1	1	1	0	1	3	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:30691947C>G	ENST00000295754.5	+	3	831	c.449C>G	c.(448-450)tCa>tGa	p.S150*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S175*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	150					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATCATCTTCTCAGAAGGTGAG	0.433													17	42					0	0	0	0	G	30691947	C	G	30691947	4	3	270	1	0	0	0	0	0	1	0	0	15916	838	29	2	538	2	TGFBR2	3	30691947	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	10767900	30691947	167330483	119	48107											
TRANK1	9881	broad.mit.edu	37	chr3	36897603	36897603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatgaaattcctttgtacctCctggcacagcacatggttct	10	13	7	11	0	1	1	0	1	1	0	3	1	3	1	3	2	2	4	3	2	3	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:36897603C>G	ENST00000429976.2	-	12	3725	c.3478G>C	c.(3478-3480)Gag>Cag	p.E1160Q	TRANK1_ENST00000301807.6_Missense_Mutation_p.E610Q|TRANK1_ENST00000428977.2_Missense_Mutation_p.E610Q			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1160					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTTGTACCTCCTGGCACAGC	0.502													8	117					0	0	0	0	G	36897603	C	G	36897603	3	3	270	1	0	0	0	0	1	0	0	0	16549	864	30	2	5347	2	TRANK1	3	36897603	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	6205656	36897603	161124827	120	48108											
XIRP1	165904	broad.mit.edu	37	chr3	39228635	39228635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtcccctcagctgcagtctCctggctctcttgcatcctgt	3	13	9	16	0	3	0	1	0	2	0	7	0	5	0	4	2	3	4	4	2	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:39228635C>T	ENST00000340369.3	-	2	2530	c.2302G>A	c.(2302-2304)Gag>Aag	p.E768K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E768K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	768							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCTGCAGTCTCCTGGCTCTCT	0.642													11	28					0	0	0	0	T	39228635	C	T	39228635	3	4	270	1	0	0	0	0	1	0	0	0	17525	864	30	2	3233	2	XIRP1	3	39228635	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2331032	39228635	158793795	121	48109											
NKTR	4820	broad.mit.edu	37	chr3	42680839	42680839	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgggaagaaggaggtggctGagaagagccagatcaacctc	13	4	15	9	1	1	4	1	1	0	4	2	7	1	6	3	4	2	1	3	4	4	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:42680839G>C	ENST00000232978.8	+	13	3831	c.3643G>C	c.(3643-3645)Gag>Cag	p.E1215Q	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1215					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGAGGTGGCTGAGAAGAGCCA	0.527													21	43					0	0	0	0	C	42680839	G	C	42680839	3	2	270	1	0	0	0	0	1	0	0	0	10518	1291	45	2	3689	2	NKTR	3	42680839	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3452204	42680839	155341591	122	48110											
NKTR	4820	broad.mit.edu	37	chr3	42680982	42680982	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaatgaaaccacaaggcttGagaatagaaattaaaagcaa	22	6	8	5	0	0	3	0	2	0	2	0	5	0	3	1	1	2	2	1	1	9	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:42680982G>C	ENST00000232978.8	+	13	3974	c.3786G>C	c.(3784-3786)ttG>ttC	p.L1262F	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1262					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CACAAGGCTTGAGAATAGAAA	0.453													27	42					0	0	0	0	C	42680982	G	C	42680982	3	2	270	1	0	0	0	0	1	0	0	0	10518	1281	45	2	3832	2	NKTR	3	42680982	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	143	42680982	155341448	123	48111											
PRKAR2A	5576	broad.mit.edu	37	chr3	48789027	48789027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtggcacacctactgcccGaggttgcccagatccacgct	7	8	11	15	2	0	1	0	0	0	1	1	2	1	1	4	2	3	3	4	2	1	2	rs143784793	byFrequency	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:48789027G>A	ENST00000265563.8	-	11	1455	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	PRKAR2A_ENST00000296446.8_Silent_p.L380L|PRKAR2A_ENST00000454963.1_Silent_p.L402L	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	402					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|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CCTACTGCCCGAGGTTGCCCA	0.522													13	14					0	0	0	0	A	48789027	G	A	48789027	2	1	270	1	0	0	0	0	0	0	0	1	12585	1045	37	1		1	PRKAR2A	3	48789027	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	6108045	48789027	149233403	124	48112											
BSN	8927	broad.mit.edu	37	chr3	49702266	49702266	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaaaaaattttcctcattCtggtgaccatgcccagcatg	11	11	8	11	0	2	1	1	1	1	0	3	1	3	1	3	2	2	2	3	2	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:49702266C>T	ENST00000296452.4	+	10	11889	c.11775C>T	c.(11773-11775)ttC>ttT	p.F3925F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3925				F -> L (in Ref. 1; AAC83555).	synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTTCCTCATTCTGGTGACCAT	0.557													30	69					0	0	0	0	T	49702266	C	T	49702266	2	4	270	1	0	0	0	0	0	0	0	1	1538	912	32	2		2	BSN	3	49702266	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	913239	49702266	148320164	125	48113											
DNAH1	25981	broad.mit.edu	37	chr3	52382931	52382931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaggacatcttcatcagcGgtgaccccctgctggagtcc	7	9	12	13	1	3	1	2	1	1	0	4	4	4	4	3	4	2	1	3	4	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:52382931G>A	ENST00000420323.2	+	13	2395	c.2134G>A	c.(2134-2136)Ggt>Agt	p.G712S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	712	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTCATCAGCGGTGACCCCCT	0.617													6	78					0	0	0	0	A	52382931	G	A	52382931	3	1	270	1	0	0	0	0	1	0	0	0	4634	1116	39	1	2180	1	DNAH1	3	52382931	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2680665	52382931	145639499	126	48114											
OR5H15	403274	broad.mit.edu	37	chr3	97887885	97887885	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaccacagaatgttttctCttggcaacaatggcatatga	13	12	8	8	0	1	2	0	1	1	1	2	2	1	2	1	2	2	4	1	2	5	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:97887885C>G	ENST00000356526.2	+	1	342	c.342C>G	c.(340-342)ctC>ctG	p.L114L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AATGTTTTCTCTTGGCAACAA	0.378													35	122					0	0	0	0	G	97887885	C	G	97887885	2	3	270	1	0	0	0	0	0	0	0	1	11232	900	32	2		2	OR5H15	3	97887885	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	45504954	97887885	100134545	127	48115											
DCBLD2	131566	broad.mit.edu	37	chr3	98518364	98518364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcatactgggcctgggctGaggagcagctgtcagtcctg	7	10	14	10	0	2	1	2	1	0	0	3	2	3	2	2	3	3	3	2	3	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:98518364G>A	ENST00000326840.6	-	16	2542	c.2180C>T	c.(2179-2181)tCa>tTa	p.S727L	DCBLD2_ENST00000326857.9_Missense_Mutation_p.S741L	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	727					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GGCCTGGGCTGAGGAGCAGCT	0.557													68	233					0	0	0	0	A	98518364	G	A	98518364	3	1	270	1	0	0	0	0	1	0	0	0	4313	1294	45	2	151	2	DCBLD2	3	98518364	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	630479	98518364	99504066	128	48116											
FILIP1L	11259	broad.mit.edu	37	chr3	99649833	99649833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggaaatttcttttgggctGagccctcggtatcactgcct	6	15	10	10	1	2	1	1	1	1	0	3	2	2	2	2	3	2	2	2	3	2	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:99649833G>A	ENST00000331335.5	-	2	502	c.32C>T	c.(31-33)tCa>tTa	p.S11L	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000398326.2_Missense_Mutation_p.S11L|FILIP1L_ENST00000354552.3_Missense_Mutation_p.S11L|CMSS1_ENST00000421999.2_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	11						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTTTTGGGCTGAGCCCTCGGT	0.433													9	44					0	0	0	0	A	99649833	G	A	99649833	3	1	270	1	0	0	0	0	1	0	0	0	5940	1294	45	2	3416	2	FILIP1L	3	99649833	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1131469	99649833	98372597	129	48117											
NFKBIZ	64332	broad.mit.edu	37	chr3	101572517	101572517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgcccagcagcgcctgtGaggccatggtggggcacgag	7	6	17	11	2	0	2	0	2	0	0	0	3	0	2	3	4	3	2	3	4	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:101572517G>A	ENST00000326172.5	+	5	1262	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.E283K|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.E261K	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	383	Required for transcriptional activity (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAGCGCCTGTGAGGCCATGGT	0.493													21	124					0	0	0	0	A	101572517	G	A	101572517	3	1	270	1	0	0	0	0	1	0	0	0	10453	1291	45	2	1165	2	NFKBIZ	3	101572517	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1922684	101572517	96449913	130	48118											
CCDC80	151887	broad.mit.edu	37	chr3	112358405	112358405	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacccctcatctctgatcatCtcacgcggagagcccctggc	7	8	9	17	2	4	2	3	1	2	1	6	4	4	2	4	2	1	0	4	2	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:112358405C>T	ENST00000206423.3	-	2	1301	c.348G>A	c.(346-348)gaG>gaA	p.E116E	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Silent_p.E116E	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	116										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTCTGATCATCTCACGCGGAG	0.602													27	108					0	0	0	0	T	112358405	C	T	112358405	2	4	270	1	0	0	0	0	0	0	0	1	2881	912	32	2		2	CCDC80	3	112358405	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	10785888	112358405	85664025	131	48119											
KIAA1407	57577	broad.mit.edu	37	chr3	113753906	113753906	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttcttgcaccagacaCtgagcctccaagaaggccga	10	9	8	14	1	2	3	0	1	2	2	4	4	3	3	4	1	2	1	4	1	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:113753906C>G	ENST00000295878.3	-	6	830	c.684G>C	c.(682-684)caG>caC	p.Q228H	KIAA1407_ENST00000545063.1_Missense_Mutation_p.Q59H	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	228										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCACCAGACACTGAGCCTCCA	0.448													21	120					0	0	0	0	G	113753906	C	G	113753906	3	3	270	1	0	0	0	0	1	0	0	0	8280	564	20	4	2174	4	KIAA1407	3	113753906	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1395501	113753906	84268524	132	48120											
GTF2E1	2960	broad.mit.edu	37	chr3	120499990	120499990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctcattcacgagaaaaaGacttcctctgccatggctgg	10	10	9	12	1	3	2	2	0	1	2	4	3	4	2	2	2	2	2	2	2	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:120499990G>C	ENST00000283875.5	+	5	1086	c.993G>C	c.(991-993)aaG>aaC	p.K331N		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	331					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ACGAGAAAAAGACTTCCTCTG	0.547													9	63					0	0	0	0	C	120499990	G	C	120499990	3	2	270	1	0	0	0	0	1	0	0	0	6906	933	33	2	1007	2	GTF2E1	3	120499990	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	6746084	120499990	77522440	133	48121											
KPNA1	3836	broad.mit.edu	37	chr3	122170899	122170899	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctccagcaatgttgccaaGagcccagactgcctgtgaaa	12	8	9	12	0	1	3	0	1	1	2	2	3	1	3	4	0	4	2	4	0	3	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:122170899G>C	ENST00000344337.6	-	7	753	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	193	NLS binding site (major) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ATGTTGCCAAGAGCCCAGACT	0.398													42	176					0	0	0	0	C	122170899	G	C	122170899	3	2	270	1	0	0	0	0	1	0	0	0	8481	942	33	2	1071	2	KPNA1	3	122170899	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1670909	122170899	75851531	134	48122											
ALDH1L1	10840	broad.mit.edu	37	chr3	125879726	125879726	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcctttccatccttgtctgGaacagtgaacacacccacca	10	9	7	15	0	1	1	0	1	1	0	3	2	3	2	5	2	2	0	5	2	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:125879726G>C	ENST00000393434.2	-	2	446	c.97C>G	c.(97-99)Cca>Gca	p.P33A	ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.P33A|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.P33A|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.P33A|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.P43A	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	33	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCTTGTCTGGAACAGTGAAC	0.572													15	117					0	0	0	0	C	125879726	G	C	125879726	3	2	270	1	0	0	0	0	1	0	0	0	494	1174	41	2	2699	2	ALDH1L1	3	125879726	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3708827	125879726	72142704	135	48123											
MCM2	4171	broad.mit.edu	37	chr3	127327234	127327234	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccctcgcagaccatctatCagaactaccagcgtatccga	11	8	7	15	3	2	2	1	0	1	2	5	3	4	2	4	0	3	2	4	0	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:127327234C>T	ENST00000265056.7	+	7	1355	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	371					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GACCATCTATCAGAACTACCA	0.572													68	229					0	0	0	0	T	127327234	C	T	127327234	4	4	270	1	0	0	0	0	0	1	0	0	9455	827	29	2	1137	2	MCM2	3	127327234	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1447508	127327234	70695196	136	48124											
TMEM108	66000	broad.mit.edu	37	chr3	133109176	133109176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagtcccttgaaacctctGaggtaatgagcttgaaagtg	11	11	10	9	0	1	4	0	4	1	0	3	4	3	4	3	1	2	2	3	1	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:133109176G>A	ENST00000321871.6	+	5	1813	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	TMEM108_ENST00000393130.3_Missense_Mutation_p.E535K|TMEM108_ENST00000508711.1_Missense_Mutation_p.E65K	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	535						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGAAACCTCTGAGGTAATGAG	0.532													43	227					0	0	0	0	A	133109176	G	A	133109176	3	1	270	1	0	0	0	0	1	0	0	0	16118	1291	45	2	1613	2	TMEM108	3	133109176	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	5781942	133109176	64913254	137	48125											
TRPC1	7220	broad.mit.edu	37	chr3	142443489	142443489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcctcttcctcgccgaacGaggtgatggcgctgaaggat	8	9	12	12	4	1	2	0	2	1	0	4	5	3	3	3	3	1	1	3	3	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:142443489G>A	ENST00000273482.6	+	1	479	c.88G>A	c.(88-90)Gag>Aag	p.E30K	TRPC1_ENST00000476941.1_Missense_Mutation_p.E30K	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	30					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ctcGCCGAACGAGGTGATGGC	0.617													12	65					0	0	0	0	A	142443489	G	A	142443489	3	1	270	1	0	0	0	0	1	0	0	0	16673	1059	37	1	90	1	TRPC1	3	142443489	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	9334313	142443489	55578941	138	48126											
SELT	51714	broad.mit.edu	37	chr3	150321201	150321201	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgtctgcgatggtccggagcGaggcctcggccaatctgggc	5	7	16	13	5	2	0	0	0	2	0	4	3	3	1	3	5	2	0	3	5	1	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:150321201G>C	ENST00000471696.1	+	1	127	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	SELT_ENST00000477889.1_5'UTR|SELT_ENST00000485923.1_5'UTR|SELT_ENST00000480740.1_Intron	NM_016275.3	NP_057359.2	P62341	SELT_HUMAN		18				RSE -> WSD (in Ref. 4; AAH09611).	cell redox homeostasis|selenocysteine incorporation		selenium binding							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGTCCGGAGCGAGGCCTCGGC	0.602													7	29					0	0	0	0	C	150321201	G	C	150321201	3	2	270	1	0	0	0	0	1	0	0	0	14109	1059	37	3	54	3	SELT	3	150321201	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	7877712	150321201	47701229	139	48127											
PLCH1	23007	broad.mit.edu	37	chr3	155200497	155200497	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcccttccacaaagtcCtcaggattacccttttcctt	7	16	3	15	0	1	0	1	0	0	0	5	1	5	1	5	1	1	0	5	1	2	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:155200497C>T	ENST00000460012.1	-	23	3585	c.3228G>A	c.(3226-3228)gaG>gaA	p.E1076E	PLCH1_ENST00000414191.1_Silent_p.E1076E|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Silent_p.E1114E|PLCH1_ENST00000334686.6_Silent_p.E1076E|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1114					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCACAAAGTCCTCAGGATTAC	0.478													28	112					0	0	0	0	T	155200497	C	T	155200497	2	4	270	1	0	0	0	0	0	0	0	1	12109	680	24	4		4	PLCH1	3	155200497	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	4879296	155200497	42821933	140	48128											
VEPH1	79674	broad.mit.edu	37	chr3	157188282	157188282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattcttgtgatacagatttCaactactgcctggtcattgt	9	16	8	8	0	3	2	2	1	1	1	3	3	3	2	1	1	4	0	1	1	3	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:157188282C>T	ENST00000362010.2	-	3	482	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	VEPH1_ENST00000494677.1_Missense_Mutation_p.E59K|VEPH1_ENST00000392832.2_Missense_Mutation_p.E59K|VEPH1_ENST00000392833.2_Missense_Mutation_p.E59K|VEPH1_ENST00000537559.1_Missense_Mutation_p.E59K|VEPH1_ENST00000543418.1_Missense_Mutation_p.E59K|VEPH1_ENST00000468233.1_Missense_Mutation_p.E59K	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	59						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ATACAGATTTCAACTACTGCC	0.408													30	121					0	0	0	0	T	157188282	C	T	157188282	3	4	270	1	0	0	0	0	1	0	0	0	17250	835	29	2	2496	2	VEPH1	3	157188282	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1987785	157188282	40834148	141	48129											
RSRC1	51319	broad.mit.edu	37	chr3	157920866	157920866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgcttactgtaggtccaGgtcaagacctcgtctccgtt	7	13	9	12	2	3	1	1	0	2	1	6	1	4	1	3	2	2	3	3	2	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:157920866G>A	ENST00000295930.3	+	4	488	c.326G>A	c.(325-327)aGg>aAg	p.R109K	RSRC1_ENST00000480820.1_Missense_Mutation_p.R109K|RSRC1_ENST00000475278.2_Missense_Mutation_p.R109K|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	109	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TGTAGGTCCAGGTCAAGACCT	0.393													4	45					0	0	0	0	A	157920866	G	A	157920866	3	1	270	1	0	0	0	0	1	0	0	0	13799	1000	35	4	336	4	RSRC1	3	157920866	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	732584	157920866	40101564	142	48130											
SMC4	10051	broad.mit.edu	37	chr3	160137327	160137327	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattccaggaatatatggaaGattggtaaagtagatttttg	14	14	11	2	0	0	2	0	0	0	2	1	5	1	4	1	3	0	2	1	3	7	8			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:160137327G>T	ENST00000357388.3	+	12	2304	c.1853G>T	c.(1852-1854)aGa>aTa	p.R618I	SMC4_ENST00000360111.2_Missense_Mutation_p.R618I|SMC4_ENST00000344722.5_Missense_Mutation_p.R618I|SMC4_ENST00000462787.1_Missense_Mutation_p.R618I|SMC4_ENST00000469762.1_Missense_Mutation_p.R593I|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	618	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATATATGGAAGATTGGTAAAG	0.353													7	65					8.12818e-05	8.40193e-05	1	0	T	160137327	G	T	160137327	3	4	270	1	0	0	0	0	1	0	0	0	14873	942	33	2	1895	2	SMC4	3	160137327	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2216461	160137327	37885103	143	48131											
GPR160	26996	broad.mit.edu	37	chr3	169802027	169802027	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacttttaagcattaggttCactaaataccacatctgcct	12	14	5	10	0	2	0	1	0	1	0	2	0	2	0	2	1	4	3	2	1	6	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:169802027C>T	ENST00000355897.5	+	4	875	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	89						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCATTAGGTTCACTAAATACC	0.303													8	82					0	0	0	0	T	169802027	C	T	169802027	2	4	270	1	0	0	0	0	0	0	0	1	6713	825	29	2		2	GPR160	3	169802027	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	9664700	169802027	28220403	144	48132											
MRPL47	57129	broad.mit.edu	37	chr3	179306692	179306692	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacttttgggcttcagcaaGatgtggaaacttttttaaaa	12	15	9	5	0	1	2	1	1	0	1	1	3	1	3	0	2	2	2	0	2	4	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:179306692G>C	ENST00000476781.1	-	7	750	c.721C>G	c.(721-723)Ctt>Gtt	p.L241V	MRPL47_ENST00000392659.2_Missense_Mutation_p.L131V|MRPL47_ENST00000259038.2_Missense_Mutation_p.L221V	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	241					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			GCTTCAGCAAGATGTGGAAAC	0.343													13	165					0	0	0	0	C	179306692	G	C	179306692	3	2	270	1	0	0	0	0	1	0	0	0	9881	942	33	2	35	2	MRPL47	3	179306692	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	9504665	179306692	18715738	145	48133											
FXR1	8087	broad.mit.edu	37	chr3	180685868	180685868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagctgtctaacccctctGaaacggaatctgagcgtaaa	12	9	9	11	2	3	3	0	3	3	0	3	4	3	4	2	1	4	2	2	1	5	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:180685868G>A	ENST00000357559.4	+	14	1612	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	FXR1_ENST00000468861.1_Missense_Mutation_p.E325K|FXR1_ENST00000445140.2_Missense_Mutation_p.E410K|FXR1_ENST00000491062.1_Missense_Mutation_p.E361K|FXR1_ENST00000305586.7_Missense_Mutation_p.E325K|FXR1_ENST00000480918.1_Missense_Mutation_p.E397K	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	410					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAACCCCTCTGAAACGGAATC	0.428													24	161					0	0	0	0	A	180685868	G	A	180685868	3	1	270	1	0	0	0	0	1	0	0	0	6163	1291	45	2	1282	2	FXR1	3	180685868	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1379176	180685868	17336562	146	48134											
MCF2L2	23101	broad.mit.edu	37	chr3	182897459	182897459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acaggtttcgtgactgtcgtCcgactggaaaaggcccgcga	9	8	13	11	5	0	1	0	1	0	0	3	4	1	2	2	3	0	1	2	3	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:182897459C>G	ENST00000328913.3	-	29	3424	c.3127G>C	c.(3127-3129)Gac>Cac	p.D1043H	MCF2L2_ENST00000473233.1_Missense_Mutation_p.D1043H	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1043					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGACTGTCGTCCGACTGGAAA	0.587													22	225					0	0	0	0	G	182897459	C	G	182897459	3	3	270	1	0	0	0	0	1	0	0	0	9449	855	30	2	225	2	MCF2L2	3	182897459	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2211591	182897459	15124971	147	48135											
AP2M1	1173	broad.mit.edu	37	chr3	183900581	183900581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatgaaggaatcgcagatCagcgcagagattgagcttct	12	8	13	8	2	2	4	1	2	1	2	3	6	2	5	0	2	2	4	0	2	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:183900581C>T	ENST00000382456.3	+	10	1406	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	AP2M1_ENST00000439647.1_Silent_p.I364I|AP2M1_ENST00000411763.2_Silent_p.I391I|AP2M1_ENST00000292807.5_Silent_p.I366I|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000461733.1_3'UTR	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	366	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AATCGCAGATCAGCGCAGAGA	0.552													17	93					0	0	0	0	T	183900581	C	T	183900581	2	4	270	1	0	0	0	0	0	0	0	1	743	816	29	2		2	AP2M1	3	183900581	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1003122	183900581	14121849	148	48136											
AHSG	197	broad.mit.edu	37	chr3	186338532	186338532	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gttactggcagctcctccagGacaccagttgcaccgggcgc	7	7	12	15	2	0	0	0	0	0	0	2	1	2	1	4	3	3	5	4	3	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:186338532G>C	ENST00000411641.2	+	7	1136	c.917G>C	c.(916-918)gGa>gCa	p.G306A	AHSG_ENST00000273784.5_Missense_Mutation_p.G307A			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	306					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCTCCTCCAGGACACCAGTTG	0.632													105	167					0	0	0	0	C	186338532	G	C	186338532	3	2	270	1	0	0	0	0	1	0	0	0	420	1174	41	2	943	2	AHSG	3	186338532	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2437951	186338532	11683898	149	48137											
HRG	3273	broad.mit.edu	37	chr3	186395631	186395631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaagttcaagagtgggtttCcacaagtttccatgtttttt	9	16	10	6	0	1	1	1	0	0	1	3	2	3	2	2	2	0	4	2	2	3	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:186395631C>T	ENST00000232003.4	+	7	1617	c.1537C>T	c.(1537-1539)Cca>Tca	p.P513S		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	513					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GAGTGGGTTTCCACAAGTTTC	0.363													33	88					0	0	0	0	T	186395631	C	T	186395631	3	4	270	1	0	0	0	0	1	0	0	0	7404	855	30	2	1563	2	HRG	3	186395631	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	57099	186395631	11626799	150	48138											
LEPREL1	55214	broad.mit.edu	37	chr3	189681803	189681803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccacagcacacctctttcCcttggtgactgccttcaccc	7	10	6	18	0	2	1	1	1	1	0	3	1	3	1	5	1	3	1	5	1	0	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:189681803C>T	ENST00000319332.5	-	14	2175	c.1978G>A	c.(1978-1980)Gga>Aga	p.G660R	LEPREL1_ENST00000427335.2_Missense_Mutation_p.G479R	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	660	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCTTTCCCTTGGTGACT	0.493													26	151					0	0	0	0	T	189681803	C	T	189681803	3	4	270	1	0	0	0	0	1	0	0	0	8783	632	22	4	156	4	LEPREL1	3	189681803	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	3286172	189681803	8340627	151	48139											
ATP13A4	84239	broad.mit.edu	37	chr3	193185208	193185208	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcttgtaatccgcttcactCtgtgttttccagggcacaga	7	13	9	12	2	2	1	1	0	1	1	4	1	4	1	2	1	0	5	2	1	1	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:193185208C>G	ENST00000342695.4	-	10	1333	c.1011G>C	c.(1009-1011)caG>caC	p.Q337H	ATP13A4_ENST00000295548.3_Missense_Mutation_p.Q337H|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Q337H	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	337					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCGCTTCACTCTGTGTTTTCC	0.502													19	163					0	0	0	0	G	193185208	C	G	193185208	3	3	270	1	0	0	0	0	1	0	0	0	1130	912	32	2	2663	2	ATP13A4	3	193185208	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	3503405	193185208	4837222	152	48140											
ATP13A3	79572	broad.mit.edu	37	chr3	194152469	194152469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtcaattgctgatggatGactgcactgcgtgagggagt	8	11	16	6	1	1	3	1	3	0	0	1	5	1	5	0	3	3	2	0	3	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:194152469G>A	ENST00000439040.1	-	22	3189	c.2398C>T	c.(2398-2400)Cat>Tat	p.H800Y	ATP13A3_ENST00000256031.4_Missense_Mutation_p.H800Y			Q9H7F0	AT133_HUMAN	ATPase type 13A3	800					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCTGATGGATGACTGCACTGC	0.388													10	45					0	0	0	0	A	194152469	G	A	194152469	3	1	270	1	0	0	0	0	1	0	0	0	1129	1290	45	2	1330	2	ATP13A3	3	194152469	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	967261	194152469	3869961	153	48141											
TMEM44	93109	broad.mit.edu	37	chr3	194309351	194309351	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttgctgccttcgaggttCacatcttcagggtcccacta	6	14	8	13	1	4	0	2	0	2	0	6	1	5	0	2	2	2	2	2	2	1	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:194309351C>G	ENST00000381975.3	-	10	1255	c.1190G>C	c.(1189-1191)tGa>tCa	p.*397S	TMEM44-AS1_ENST00000453671.1_RNA|TMEM44-AS1_ENST00000419571.1_RNA|TMEM44_ENST00000392432.2_Silent_p.V445V|TMEM44_ENST00000347147.4_Silent_p.V398V|TMEM44_ENST00000273580.7_Silent_p.V409V|TMEM44_ENST00000476750.1_5'UTR|TMEM44_ENST00000473092.1_Silent_p.V408V|TMEM44-AS1_ENST00000447982.1_RNA			Q2T9K0	TMM44_HUMAN	transmembrane protein 44	0						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTTCGAGGTTCACATCTTCAG	0.498													10	235					0	0	0	0	G	194309351	C	G	194309351	4	3	270	1	0	0	0	0	0	0	0	0	16262	837	29	2	96	2	TMEM44	3	194309351	Nonstop_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	156882	194309351	3713079	154	48142											
MUC4	4585	broad.mit.edu	37	chr3	195515905	195515905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caccatgactggctgaggcgGacagcaattcggttgttgac	9	9	13	10	2	0	3	0	3	0	0	1	4	0	4	1	4	1	4	1	4	1	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:195515905G>A	ENST00000463781.3	-	2	3005	c.2546C>T	c.(2545-2547)tCc>tTc	p.S849F	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S849F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	854	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCTGAGGCGGACAGCAATTC	0.557													13	109					0	0	0	0	A	195515905	G	A	195515905	3	1	270	1	0	0	0	0	1	0	0	0	10048	1174	41	2		2	MUC4	3	195515905	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1206554	195515905	2506525	155	48143											
TNK2	10188	broad.mit.edu	37	chr3	195595101	195595101	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggggcggccgcgcctgctCaggcacaaaggcgtagttgg	7	5	18	11	4	1	0	1	0	0	0	1	0	1	0	2	6	1	4	2	6	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:195595101C>G	ENST00000333602.6	-	12	2640	c.2023G>C	c.(2023-2025)Gag>Cag	p.E675Q	TNK2_ENST00000428187.1_Missense_Mutation_p.E707Q|TNK2_ENST00000392400.1_Missense_Mutation_p.E675Q|TNK2_ENST00000381916.2_Missense_Mutation_p.E753Q	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	675	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CGCGCCTGCTCAGGCACAAAG	0.682													10	72					0	0	0	0	G	195595101	C	G	195595101	3	3	270	1	0	0	0	0	1	0	0	0	16412	835	29	2	1109	2	TNK2	3	195595101	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	79196	195595101	2427329	156	48144											
TNK2	10188	broad.mit.edu	37	chr3	195595308	195595308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgcccgcgtggggctctGaggcggggtctcgtccagca	4	7	17	13	4	2	1	0	1	2	0	4	1	3	1	2	5	2	2	2	5	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:195595308G>C	ENST00000333602.6	-	12	2433	c.1816C>G	c.(1816-1818)Cag>Gag	p.Q606E	TNK2_ENST00000428187.1_Missense_Mutation_p.Q638E|TNK2_ENST00000392400.1_Missense_Mutation_p.Q606E|TNK2_ENST00000381916.2_Missense_Mutation_p.Q684E	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	606	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTGGGGCTCTGAGGCGGGGTC	0.766													11	22					0	0	0	0	C	195595308	G	C	195595308	3	2	270	1	0	0	0	0	1	0	0	0	16412	1299	45	2	1316	2	TNK2	3	195595308	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	207	195595308	2427122	157	48145											
DLG1	1739	broad.mit.edu	37	chr3	196792287	196792287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatgataatctcttccatCtacctcataatctcgttttg	12	16	3	10	1	4	1	1	1	3	0	7	1	5	1	2	0	1	1	2	0	5	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:196792287C>T	ENST00000346964.2	-	23	2521	c.2332G>A	c.(2332-2334)Gat>Aat	p.D778N	DLG1_ENST00000392382.2_Missense_Mutation_p.D723N|DLG1_ENST00000422288.1_Missense_Mutation_p.D705N|DLG1_ENST00000419354.1_Missense_Mutation_p.D756N|DLG1_ENST00000357674.4_Missense_Mutation_p.D745N|DLG1_ENST00000448528.2_Missense_Mutation_p.D756N|DLG1_ENST00000314062.3_Missense_Mutation_p.D705N|DLG1_ENST00000452595.1_Missense_Mutation_p.D640N|DLG1_ENST00000450955.1_Missense_Mutation_p.D745N|DLG1_ENST00000443183.1_Missense_Mutation_p.D652N	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	756	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCTCTTCCATCTACCTCATAA	0.303													7	135					0	0	0	0	T	196792287	C	T	196792287	3	4	270	1	0	0	0	0	1	0	0	0	4591	913	32	2	464	2	DLG1	3	196792287	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1196979	196792287	1230143	158	48146											
KIAA0226	9711	broad.mit.edu	37	chr3	197427616	197427616	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gacactggacagctggctctCcccacctccttcctggtccc	5	9	8	19	0	1	0	0	0	1	0	5	2	4	1	6	3	1	2	6	3	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:197427616C>G	ENST00000273582.5	-	7	1494	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	KIAA0226_ENST00000296343.5_Missense_Mutation_p.E377Q|KIAA0226_ENST00000449205.1_Missense_Mutation_p.E377Q|KIAA0226_ENST00000389665.5_Missense_Mutation_p.E377Q	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	377	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)		AGCTGGCTCTCCCCACCTCCT	0.577													35	76					0	0	0	0	G	197427616	C	G	197427616	3	3	270	1	0	0	0	0	1	0	0	0	8213	864	30	2	1894	2	KIAA0226	3	197427616	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	635329	197427616	594814	159	48147											
KLB	152831	broad.mit.edu	37	chr4	39448239	39448239	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcgtggtcagtgaggggctGaagcttggcatctccgcgat	6	10	16	9	3	2	2	1	2	1	0	3	3	2	2	1	4	2	3	1	4	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:39448239G>A	ENST00000257408.4	+	4	1990	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	631	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GTGAGGGGCTGAAGCTTGGCA	0.627													27	54					0	0	0	0	A	39448239	G	A	39448239	2	1	270	1	0	0	0	0	0	0	0	1	8384	1277	45	2		2	KLB	4	39448239	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08		39448239	151706037	160	48148											
NSUN7	79730	broad.mit.edu	37	chr4	40752778	40752778	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagatcatctcccaactcaCttccctgcctctgtccggtg	6	11	7	17	2	4	1	2	0	2	1	7	2	6	1	4	1	2	0	4	1	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:40752778C>A	ENST00000381782.2	+	2	563	c.68C>A	c.(67-69)aCt>aAt	p.T23N	NSUN7_ENST00000316607.5_Missense_Mutation_p.T23N	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TCCCAACTCACTTCCCTGCCT	0.547													29	70					2.65835e-16	2.90996e-16	1	0	A	40752778	C	A	40752778	3	1	270	1	0	0	0	0	1	0	0	0	10754	565	20	4	70	4	NSUN7	4	40752778	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1304539	40752778	150401498	161	48149											
NSUN7	79730	broad.mit.edu	37	chr4	40752873	40752873	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatggcagccaacatttttCagggtattcgaatcgaaaag	13	11	9	8	2	2	0	2	0	0	0	4	2	2	0	1	2	2	2	1	2	5	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:40752873C>G	ENST00000381782.2	+	2	658	c.163C>G	c.(163-165)Cag>Gag	p.Q55E	NSUN7_ENST00000316607.5_Missense_Mutation_p.Q55E	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CAACATTTTTCAGGGTATTCG	0.512													40	94					0	0	0	0	G	40752873	C	G	40752873	3	3	270	1	0	0	0	0	1	0	0	0	10754	827	29	2	165	2	NSUN7	4	40752873	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	95	40752873	150401403	162	48150											
LRRC66	339977	broad.mit.edu	37	chr4	52861814	52861814	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtgtggctgtgtcacccaGaaaggggtctggttctcgta	6	11	16	8	1	3	1	1	0	2	1	4	1	3	1	1	5	0	3	1	5	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:52861814G>C	ENST00000343457.3	-	4	1380	c.1374C>G	c.(1372-1374)ttC>ttG	p.F458L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	458						integral to membrane		p.F458L(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGTCACCCAGAAAGGGGTCT	0.562													26	72					0	0	0	0	C	52861814	G	C	52861814	3	2	270	1	0	0	0	0	1	0	0	0	9082	933	33	2	1272	2	LRRC66	4	52861814	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	12108941	52861814	138292462	163	48151											
ODAM	54959	broad.mit.edu	37	chr4	71068032	71068032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaactaggcacagctcctGaaattgctgtgatggtaaga	12	9	10	10	0	0	3	0	2	0	1	1	3	1	3	2	2	3	4	2	2	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71068032G>A	ENST00000396094.2	+	8	682	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	212					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CACAGCTCCTGAAATTGCTGT	0.373													12	34					0	0	0	0	A	71068032	G	A	71068032	3	1	270	1	0	0	0	0	1	0	0	0	10895	1291	45	2	664	2	ODAM	4	71068032	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	18206218	71068032	120086244	164	48152											
ENAM	10117	broad.mit.edu	37	chr4	71508386	71508409	+	In_Frame_Del	DEL	ACTACTGTTGCCCCACTGGGTCCC	ACTACTGTTGCCCCACTGGGTCCC	-																															caaataaacaccctgtaggaActactgttgccccactgggt																								rs111931241		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71508386_71508409delACTACTGTTGCCCCACTGGGTCCC	ENST00000396073.3	+	9	1524_1547	c.1243_1266delACTACTGTTGCCCCACTGGGTCCC	c.(1243-1266)del	p.TTVAPLGP415del	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	415					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCCTGTAGGAACTACTGTTGCCCCACTGGGTCCCAAACCTGGCC	0.451													9	94	---	---	---	---					-	71508409	ACTACTGTTGCCCCACTGGGTCCC	-	71508386	7	5	270	1	0	1	0	1	0	0	0	0	5150	43	2	0	1273	0	ENAM	4	71508386	In_Frame_Del	DEL	ACTACTGTTGCCCCACTGGGTCCC	TCGA-CV-6961-01A-21D-1912-08	440354	71508386	119645890	165	48153											
ENAM	10117	broad.mit.edu	37	chr4	71508617	71508617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaattctgttgatcaacatGaaaactcctattacccaaga	15	13	4	9	0	2	3	1	2	1	1	3	3	3	3	2	0	3	1	2	0	7	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71508617G>A	ENST00000396073.3	+	9	1755	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	492					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGATCAACATGAAAACTCCTA	0.378													7	30					0	0	0	0	A	71508617	G	A	71508617	3	1	270	1	0	0	0	0	1	0	0	0	5150	1291	45	2	1504	2	ENAM	4	71508617	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	231	71508617	119645659	166	48154											
RUFY3	22902	broad.mit.edu	37	chr4	71660553	71660553	+	Missense_Mutation	SNP	G	G	A																															aaaacaggaaaaagaaagaaGattacaaaacgacaggagca																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71660553G>A	ENST00000381006.3	+	14	2078	c.1499G>A	c.(1498-1500)aGa>aAa	p.R500K	RUFY3_ENST00000502653.1_Missense_Mutation_p.R447K	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	335					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AAAGAAAGAAGATTACAAAAC	0.373													6	90					0	0	0	0	A	71660553	G	A	71660553	3	1	270	1	0	0	0	0	1	0	0	0	13825	942	33	2	1996	2	RUFY3	4	71660553	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	151936	71660553	119493723	167	48155	371	2									
RUFY3	22902	broad.mit.edu	37	chr4	71660554	71660554	+	Missense_Mutation	SNP	A	A	T																															aaacaggaaaaagaaagaagAttacaaaacgacaggagcat																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71660554A>T	ENST00000381006.3	+	14	2079	c.1500A>T	c.(1498-1500)agA>agT	p.R500S	RUFY3_ENST00000502653.1_Missense_Mutation_p.R447S	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	335					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AAGAAAGAAGATTACAAAACG	0.368													6	91					0	0	0	0	T	71660554	A	T	71660554	3	4	270	1	0	0	0	0	1	0	0	0	13825	330	12	5	1997	5	RUFY3	4	71660554	Missense_Mutation	SNP	A	TCGA-CV-6961-01A-21D-1912-08	1	71660554	119493722	168	48156	371	2									
ADAMTS3	9508	broad.mit.edu	37	chr4	73280574	73280574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgtctatgggagcctgttCtacagctgatctcttgtaga	8	14	10	9	0	3	2	0	1	3	1	4	3	3	3	1	1	3	3	1	1	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:73280574C>G	ENST00000286657.4	-	4	655	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	207					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.E207Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAGCCTGTTCTACAGCTGAT	0.363													21	52					0	0	0	0	G	73280574	C	G	73280574	3	3	270	1	0	0	0	0	1	0	0	0	267	922	32	2	3074	2	ADAMTS3	4	73280574	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1620020	73280574	117873702	169	48157											
ANKRD17	26057	broad.mit.edu	37	chr4	73957704	73957704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggatatgctaatggaaGagaaactggaaaaccaggcc	17	5	13	6	0	0	1	0	0	0	1	0	6	0	5	2	5	3	1	2	5	6	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:73957704G>A	ENST00000358602.4	-	29	5757	c.5641C>T	c.(5641-5643)Ctt>Ttt	p.L1881F	ANKRD17_ENST00000330838.6_Missense_Mutation_p.L1630F|ANKRD17_ENST00000509867.2_Missense_Mutation_p.L1768F	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1881					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTAATGGAAGAGAAACTGGA	0.483													21	116					0	0	0	0	A	73957704	G	A	73957704	3	1	270	1	0	0	0	0	1	0	0	0	646	942	33	2	2194	2	ANKRD17	4	73957704	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	677130	73957704	117196572	170	48158											
AFM	173	broad.mit.edu	37	chr4	74361120	74361120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagaaattgctgcaacacaGaaaaccctccaggttgttac	14	9	8	10	0	0	2	0	1	0	2	1	3	1	2	2	1	5	4	2	1	5	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:74361120G>A	ENST00000226355.3	+	9	1255	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	388	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGCAACACAGAAAACCCTCC	0.363													15	44					0	0	0	0	A	74361120	G	A	74361120	3	1	270	1	0	0	0	0	1	0	0	0	361	943	33	2	1196	2	AFM	4	74361120	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	403416	74361120	116793156	171	48159											
CCNG2	901	broad.mit.edu	37	chr4	78079754	78079754	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctcgggttgttgaacgtCtacctggaacaagaagagag	11	10	12	8	2	2	3	0	1	2	2	3	5	2	4	1	2	3	2	1	2	5	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:78079754C>G	ENST00000316355.5	+	2	425	c.69C>G	c.(67-69)gtC>gtG	p.V23V	CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000354403.5_Silent_p.V23V|CCNG2_ENST00000502280.1_Silent_p.V23V|CCNG2_ENST00000509972.1_Silent_p.V23V|CCNG2_ENST00000395640.1_Silent_p.V23V	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	23					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TGTTGAACGTCTACCTGGAAC	0.478													28	87					0	0	0	0	G	78079754	C	G	78079754	2	3	270	1	0	0	0	0	0	0	0	1	2953	900	32	2		2	CCNG2	4	78079754	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	3718634	78079754	113074522	172	48160											
FRAS1	80144	broad.mit.edu	37	chr4	79455676	79455676	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcacttaacactgaatttCagctctgcaataatgagaag	15	12	6	8	0	3	2	2	2	1	1	3	3	3	2	0	0	3	2	0	0	5	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:79455676C>T	ENST00000264895.6	+	71	11439	c.10999C>T	c.(10999-11001)Cag>Tag	p.Q3667*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3662					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACTGAATTTCAGCTCTGCAA	0.418													28	120					0	0	0	0	T	79455676	C	T	79455676	4	4	270	1	0	0	0	0	0	1	0	0	6089	827	29	2	11356	2	FRAS1	4	79455676	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1375922	79455676	111698600	173	48161											
LIN54	132660	broad.mit.edu	37	chr4	83858440	83858440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggccgactggccgactctGatgggattatgctgtacaga	8	9	15	9	2	1	2	0	1	1	1	1	5	1	3	2	4	2	2	2	4	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:83858440G>A	ENST00000340417.3	-	9	1921	c.1544C>T	c.(1543-1545)tCa>tTa	p.S515L	LIN54_ENST00000442461.2_Missense_Mutation_p.S294L|LIN54_ENST00000510557.1_Missense_Mutation_p.S294L|LIN54_ENST00000446851.2_Missense_Mutation_p.S294L|LIN54_ENST00000506560.1_Missense_Mutation_p.S426L|LIN54_ENST00000505397.1_Missense_Mutation_p.S515L|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.S426L	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	515					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				GGCCGACTCTGATGGGATTAT	0.289													13	54					0	0	0	0	A	83858440	G	A	83858440	3	1	270	1	0	0	0	0	1	0	0	0	8864	1294	45	2	725	2	LIN54	4	83858440	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	4402764	83858440	107295836	174	48162											
LIN54	132660	broad.mit.edu	37	chr4	83859644	83859644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttgctattgatacatatGaagactgctgtagctacatg	11	14	9	7	0	0	3	0	2	0	1	0	3	0	3	0	0	6	5	0	0	6	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:83859644G>A	ENST00000340417.3	-	8	1831	c.1454C>T	c.(1453-1455)tCa>tTa	p.S485L	LIN54_ENST00000442461.2_Missense_Mutation_p.S264L|LIN54_ENST00000510557.1_Missense_Mutation_p.S264L|LIN54_ENST00000446851.2_Missense_Mutation_p.S264L|LIN54_ENST00000506560.1_Missense_Mutation_p.S396L|LIN54_ENST00000505397.1_Missense_Mutation_p.S485L|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.S396L	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	485					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TGATACATATGAAGACTGCTG	0.353													4	55					0	0	0	0	A	83859644	G	A	83859644	3	1	270	1	0	0	0	0	1	0	0	0	8864	1294	45	2	819	2	LIN54	4	83859644	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1204	83859644	107294632	175	48163											
WDFY3	23001	broad.mit.edu	37	chr4	85672736	85672736	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaaaacgaactttttaGccgggtgattggtcagatat	13	12	10	6	2	2	2	2	1	0	1	2	3	2	2	1	2	3	0	1	2	5	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:85672736G>C	ENST00000322366.6	-	36	6280	c.5873C>G	c.(5872-5874)gCt>gGt	p.A1958G	WDFY3_ENST00000295888.4_Missense_Mutation_p.A1958G			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1958						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAACTTTTTAGCCGGGTGATT	0.458													38	91					0	0	0	0	C	85672736	G	C	85672736	3	2	270	1	0	0	0	0	1	0	0	0	17366	971	34	4	4839	4	WDFY3	4	85672736	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1813092	85672736	105481540	176	48164											
PAPSS1	9061	broad.mit.edu	37	chr4	108578142	108578142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcccaaccttctgccaaaaCctgcacccactgcatatcca	11	8	4	18	0	1	0	0	0	1	0	2	0	2	0	6	0	6	2	6	0	4	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:108578142C>T	ENST00000265174.4	-	7	1077	c.805G>A	c.(805-807)Gtt>Att	p.V269I	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	269					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TCTGCCAAAACCTGCACCCAC	0.393													11	74					0	0	0	0	T	108578142	C	T	108578142	3	4	270	1	0	0	0	0	1	0	0	0	11505	507	18	4	1093	4	PAPSS1	4	108578142	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	22905406	108578142	82576134	177	48165											
TNIP3	79931	broad.mit.edu	37	chr4	122078303	122078303	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctgcctgtcgtcctctctCtgcctgtcgtcctttctctg	0	16	8	17	3	3	0	0	0	3	0	9	0	5	0	4	0	2	1	4	0	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:122078303C>T	ENST00000454328.1	-	6	536	c.309G>A	c.(307-309)caG>caA	p.Q103Q	TNIP3_ENST00000507879.1_Silent_p.Q173Q|TNIP3_ENST00000509841.1_Silent_p.Q180Q|TNIP3_ENST00000057513.3_Silent_p.Q103Q			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	103										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGTCCTCTCTCTGCCTGTCGT	0.642													111	275					0	0	0	0	T	122078303	C	T	122078303	2	4	270	1	0	0	0	0	0	0	0	1	16410	912	32	2		2	TNIP3	4	122078303	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	13500161	122078303	69075973	178	48166											
LRBA	987	broad.mit.edu	37	chr4	151773393	151773393	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaacaggttttccttcttGaaatattaatttgtcatcat	12	18	5	6	0	3	1	2	1	1	0	4	1	4	1	1	1	1	2	1	1	4	8			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:151773393G>A	ENST00000535741.1	-	23	3942	c.3469C>T	c.(3469-3471)Caa>Taa	p.Q1157*	LRBA_ENST00000507224.1_Nonsense_Mutation_p.Q1157*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.Q1157*|LRBA_ENST00000357115.3_Nonsense_Mutation_p.Q1157*			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1157						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTTCCTTCTTGAAATATTAAT	0.383													21	66					0	0	0	0	A	151773393	G	A	151773393	4	1	270	1	0	0	0	0	0	1	0	0	8995	1299	45	2	5266	2	LRBA	4	151773393	Nonsense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	29695090	151773393	39380883	179	48167											
TIGD4	201798	broad.mit.edu	37	chr4	153692046	153692046	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcaatctctgcttttttCttgccactttccactgcatt	6	17	5	13	0	2	0	0	0	2	0	4	0	3	0	2	0	4	4	2	0	1	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:153692046C>G	ENST00000304337.2	-	2	931	c.111G>C	c.(109-111)aaG>aaC	p.K37N		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	37	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CTGCTTTTTTCTTGCCACTTT	0.358													29	55					0	0	0	0	G	153692046	C	G	153692046	3	3	270	1	0	0	0	0	1	0	0	0	15992	912	32	2	1431	2	TIGD4	4	153692046	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1918653	153692046	37462230	180	48168											
DCHS2	54798	broad.mit.edu	37	chr4	155278412	155278412	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaacatctctaaactgttCattacttccttgtctgctga	12	15	4	10	0	3	1	1	1	2	0	5	1	4	1	1	0	4	2	1	0	5	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:155278412C>G	ENST00000357232.3	-	6	758	c.759G>C	c.(757-759)atG>atC	p.M253I	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	253	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctaaactgttcattacttcct	0.443													30	102					0	0	0	0	G	155278412	C	G	155278412	3	3	270	1	0	0	0	0	1	0	0	0	4320	826	29	2	8167	2	DCHS2	4	155278412	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1586366	155278412	35875864	181	48169											
GRIA2	2891	broad.mit.edu	37	chr4	158224904	158224904	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcttgattgaatactatCaatgggacaagtttgcatac	13	14	8	6	0	1	2	1	2	0	0	1	3	1	3	0	1	4	3	0	1	7	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:158224904C>A	ENST00000296526.7	+	3	755	c.430C>A	c.(430-432)Caa>Aaa	p.Q144K	GRIA2_ENST00000393815.2_Missense_Mutation_p.Q97K|GRIA2_ENST00000507898.1_Missense_Mutation_p.Q97K|GRIA2_ENST00000264426.9_Missense_Mutation_p.Q144K|GRIA2_ENST00000449365.1_Missense_Mutation_p.Q97K	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	144					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGAATACTATCAATGGGACAA	0.443													33	106					1.08312e-15	1.18078e-15	1	0	A	158224904	C	A	158224904	3	1	270	1	0	0	0	0	1	0	0	0	6818	827	29	2	440	2	GRIA2	4	158224904	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2946492	158224904	32929372	182	48170											
FNIP2	57600	broad.mit.edu	37	chr4	159791564	159791564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttgtgcttcatgggacCggcagtgatgagaagctgaa	10	10	14	7	1	2	3	1	3	1	1	2	6	2	4	1	2	2	3	1	2	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:159791564C>T	ENST00000264433.6	+	14	2967	c.2892C>T	c.(2890-2892)acC>acT	p.T964T	FNIP2_ENST00000379346.3_Silent_p.T987T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	964					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	p.T964T(1)|p.T290T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTCATGGGACCGGCAGTGATG	0.562													16	31					0	0	0	0	T	159791564	C	T	159791564	2	4	270	1	0	0	0	0	0	0	0	1	6021	639	23	1		1	FNIP2	4	159791564	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1566660	159791564	31362712	183	48171											
C4orf45	152940	broad.mit.edu	37	chr4	159836377	159836377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttggaagctcttggcaatGatgacttacactgcctaaca	11	12	9	9	0	1	2	0	2	1	0	1	3	1	3	1	2	4	3	1	2	4	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:159836377G>A	ENST00000434826.2	-	4	575	c.491C>T	c.(490-492)tCa>tTa	p.S164L	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	164										large_intestine(2)|lung(3)	5						TCTTGGCAATGATGACTTACA	0.423													12	24					0	0	0	0	A	159836377	G	A	159836377	3	1	270	1	0	0	0	0	1	0	0	0	2294	1294	45	2	77	2	C4orf45	4	159836377	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	44813	159836377	31317899	184	48172											
NEK1	4750	broad.mit.edu	37	chr4	170523167	170523167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttatctgaccttcaaatGattctctatactggacaata	14	15	4	8	0	3	2	1	2	2	0	4	3	3	3	1	1	1	0	1	1	7	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:170523167G>A	ENST00000439128.2	-	3	846	c.206C>T	c.(205-207)tCa>tTa	p.S69L	NEK1_ENST00000510533.1_Missense_Mutation_p.S69L|NEK1_ENST00000511633.1_Missense_Mutation_p.S69L|NEK1_ENST00000512193.1_Missense_Mutation_p.S69L|NEK1_ENST00000507142.1_Missense_Mutation_p.S69L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	69	Protein kinase.				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ACCTTCAAATGATTCTCTATA	0.328													13	75					0	0	0	0	A	170523167	G	A	170523167	3	1	270	1	0	0	0	0	1	0	0	0	10391	1294	45	2	3698	2	NEK1	4	170523167	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	10686790	170523167	20631109	185	48173											
HMGB2	3148	broad.mit.edu	37	chr4	174254786	174254786	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgccccgcggcttgttgggGtctcctttacccatgttgac	3	14	11	13	2	1	1	0	1	1	0	2	1	1	1	4	3	2	3	4	3	1	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:174254786G>A	ENST00000296503.5	-	2	888	c.15C>T	c.(13-15)gaC>gaT	p.D5D	HMGB2_ENST00000446922.2_Silent_p.D5D|HMGB2_ENST00000438704.2_Silent_p.D5D			P26583	HMGB2_HUMAN	high mobility group box 2	5					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GCTTGTTGGGGTCTCCTTTAC	0.642													4	64					0	0	0	0	A	174254786	G	A	174254786	2	1	270	1	0	0	0	0	0	0	0	1	7276	1252	44	4		4	HMGB2	4	174254786	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3731619	174254786	16899490	186	48174											
AHRR	57491	broad.mit.edu	37	chr5	434023	434023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctctggagtgacagggCggagggagactccaggaccc	8	4	18	11	1	1	2	0	1	1	1	2	6	2	5	3	6	0	0	3	6	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:434023C>T	ENST00000316418.5	+	12	1278	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	AHRR_ENST00000505113.1_Missense_Mutation_p.R394W|AHRR_ENST00000512529.1_Missense_Mutation_p.R240W|AHRR_ENST00000506456.1_Missense_Mutation_p.R250W	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGTGACAGGGCGGAGGGAGAC	0.632													5	37					0	0	0	0	T	434023	C	T	434023	3	4	270	1	0	0	0	0	1	0	0	0	417	759	27	1	1280	1	AHRR	5	434023	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08		434023	180481237	187	48175											
BRD9	65980	broad.mit.edu	37	chr5	887482	887482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgagtttcttactttgctCatcatcttaaagcctgcgtg	8	16	8	9	1	4	1	2	1	2	0	4	1	4	1	1	0	4	2	1	0	3	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:887482C>T	ENST00000323510.4	-	3	362	c.363G>A	c.(361-363)atG>atA	p.M121I	BRD9_ENST00000388890.4_Missense_Mutation_p.M121I|BRD9_ENST00000435709.2_Missense_Mutation_p.M121I|BRD9_ENST00000467963.1_Missense_Mutation_p.M237I|BRD9_ENST00000483173.1_Missense_Mutation_p.M184I			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	237							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TTACTTTGCTCATCATCTTAA	0.507													18	158					0	0	0	0	T	887482	C	T	887482	3	4	270	1	0	0	0	0	1	0	0	0	1515	826	29	2	1126	2	BRD9	5	887482	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	453459	887482	180027778	188	48176											
ADAMTS16	170690	broad.mit.edu	37	chr5	5306808	5306808	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgctgctgcgggaccctcGaggggcagctggtttgcctc	3	11	15	12	2	0	0	0	0	0	0	2	2	0	1	2	4	5	5	2	4	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:5306808G>A	ENST00000274181.7	+	21	3516	c.3378G>A	c.(3376-3378)tcG>tcA	p.S1126S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1126					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGGGACCCTCGAGGGGCAGCT	0.672													4	34					0	0	0	0	A	5306808	G	A	5306808	2	1	270	1	0	0	0	0	0	0	0	1	261	1045	37	1		1	ADAMTS16	5	5306808	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	4419326	5306808	175608452	189	48177											
CDH10	1008	broad.mit.edu	37	chr5	24511615	24511615	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggattcaagaactcgaagatGaatagtgtctgtaaagtata	16	11	10	4	1	2	3	1	1	1	2	3	5	2	4	0	1	1	2	0	1	9	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:24511615G>C	ENST00000264463.4	-	6	1330	c.823C>G	c.(823-825)Cat>Gat	p.H275D		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	275	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H275Y(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACTCGAAGATGAATAGTGTCT	0.418										HNSCC(23;0.051)			7	28					0	0	0	0	C	24511615	G	C	24511615	3	2	270	1	0	0	0	0	1	0	0	0	3125	1290	45	2	1571	2	CDH10	5	24511615	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	19204807	24511615	156403645	190	48178											
SLC1A3	6507	broad.mit.edu	37	chr5	36686317	36686317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagaaaccatatcaactGattgcacaggacaatgaaac	19	7	7	8	0	1	4	1	3	0	1	1	5	1	5	1	1	4	1	1	1	6	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:36686317G>A	ENST00000265113.4	+	10	2051	c.1575G>A	c.(1573-1575)ctG>ctA	p.L525L	SLC1A3_ENST00000381918.3_Silent_p.L480L|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	525					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CATATCAACTGATTGCACAGG	0.393													27	185					0	0	0	0	A	36686317	G	A	36686317	2	1	270	1	0	0	0	0	0	0	0	1	14521	1277	45	2		2	SLC1A3	5	36686317	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	12174702	36686317	144228943	191	48179											
NUP155	9631	broad.mit.edu	37	chr5	37307413	37307413	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacctttcttggaaggcCtgaagtccaactatgtcttc	9	13	8	11	0	2	1	0	1	2	0	4	2	3	2	3	2	2	1	3	2	4	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:37307413C>G	ENST00000231498.3	-	25	3092	c.2889G>C	c.(2887-2889)caG>caC	p.Q963H	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.Q899H|NUP155_ENST00000381843.2_Missense_Mutation_p.Q904H	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	963					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGGAAGGCCTGAAGTCCAA	0.368													12	65					0	0	0	0	G	37307413	C	G	37307413	3	3	270	1	0	0	0	0	1	0	0	0	10827	680	24	4	1330	4	NUP155	5	37307413	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	621096	37307413	143607847	192	48180											
LIFR	3977	broad.mit.edu	37	chr5	38481936	38481936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttttatctaagtcctcttCtgcagctatatcttccacag	9	16	5	11	0	4	0	0	0	4	0	6	0	6	0	2	0	2	3	2	0	4	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:38481936C>G	ENST00000263409.4	-	20	3217	c.3055G>C	c.(3055-3057)Gaa>Caa	p.E1019Q	LIFR_ENST00000453190.2_Missense_Mutation_p.E1019Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1019					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAGTCCTCTTCTGCAGCTATA	0.443			T	PLAG1	salivary adenoma								20	99					0	0	0	0	G	38481936	C	G	38481936	3	3	270	1	0	0	0	0	1	0	0	0	8834	922	32	2	242	2	LIFR	5	38481936	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1174523	38481936	142433324	193	48181											
PARP8	79668	broad.mit.edu	37	chr5	50118221	50118221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatagcataacttctatcaGagaaatgacacaagtaagta	18	9	8	6	0	2	2	1	1	1	1	2	4	2	3	0	1	2	3	0	1	7	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:50118221G>A	ENST00000281631.5	+	17	2005	c.1847G>A	c.(1846-1848)aGa>aAa	p.R616K	PARP8_ENST00000505697.2_Missense_Mutation_p.R616K|PARP8_ENST00000514067.2_Missense_Mutation_p.R574K|PARP8_ENST00000505554.1_Missense_Mutation_p.R595K|PARP8_ENST00000514342.2_Missense_Mutation_p.R327K|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.R574K	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	616						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACTTCTATCAGAGAAATGACA	0.308													18	96					0	0	0	0	A	50118221	G	A	50118221	3	1	270	1	0	0	0	0	1	0	0	0	11536	942	33	2	1913	2	PARP8	5	50118221	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	11636285	50118221	130797039	194	48182											
BDP1	55814	broad.mit.edu	37	chr5	70786860	70786860	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaggtgaatgcagtaaGgagcagatgctttcctgcac	13	8	13	7	0	0	2	0	1	0	1	1	4	1	4	1	3	4	5	1	3	4	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:70786860G>A	ENST00000358731.4	+	11	1805	c.1542G>A	c.(1540-1542)aaG>aaA	p.K514K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	514					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATGCAGTAAGGAGCAGATGC	0.383													7	34					0	0	0	0	A	70786860	G	A	70786860	2	1	270	1	0	0	0	0	0	0	0	1	1399	991	35	4		4	BDP1	5	70786860	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	20668639	70786860	110128400	195	48183											
MAP1B	4131	broad.mit.edu	37	chr5	71494026	71494026	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctaaagaagaatgcccaaGaccgatgtcaatttctccac	15	9	6	11	1	3	3	1	0	2	3	4	4	3	3	3	0	1	0	3	0	6	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:71494026G>C	ENST00000296755.7	+	5	5142	c.4844G>C	c.(4843-4845)aGa>aCa	p.R1615T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1615						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAATGCCCAAGACCGATGTCA	0.438													9	107					0	0	0	0	C	71494026	G	C	71494026	3	2	270	1	0	0	0	0	1	0	0	0	9297	942	33	2	4862	2	MAP1B	5	71494026	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	707166	71494026	109421234	196	48184											
CMYA5	202333	broad.mit.edu	37	chr5	79029812	79029812	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggcaacccagaagaatttCagccatttactttttcttta	12	14	6	9	0	2	2	1	0	1	2	2	3	2	2	2	1	3	1	2	1	5	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:79029812C>T	ENST00000446378.2	+	2	5255	c.5224C>T	c.(5224-5226)Cag>Tag	p.Q1742*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1742						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAGAATTTCAGCCATTTAC	0.423													11	45					0	0	0	0	T	79029812	C	T	79029812	4	4	270	1	0	0	0	0	0	1	0	0	3620	827	29	2	5230	2	CMYA5	5	79029812	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	7535786	79029812	101885448	197	48185											
GPR98	84059	broad.mit.edu	37	chr5	90074289	90074289	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaaagcttctatgagtttCagctcactgcagtcagtgag	13	11	9	8	0	4	2	3	2	1	0	4	2	4	2	0	0	3	4	0	0	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:90074289C>T	ENST00000405460.2	+	63	12808	c.12712C>T	c.(12712-12714)Cag>Tag	p.Q4238*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4238	Calx-beta 28.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTATGAGTTTCAGCTCACTGC	0.468													7	20					0	0	0	0	T	90074289	C	T	90074289	4	4	270	1	0	0	0	0	0	1	0	0	6771	827	29	2	12962	2	GPR98	5	90074289	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	11044477	90074289	90840971	198	48186											
ARRDC3	57561	broad.mit.edu	37	chr5	90670857	90670857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgataaggattccccaCgcaagttagccacaagctgt	13	8	9	11	1	0	2	0	1	0	1	1	3	1	3	3	1	2	3	3	1	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:90670857C>T	ENST00000265138.3	-	5	1018	c.752G>A	c.(751-753)cGt>cAt	p.R251H		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	251					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GGATTCCCCACGCAAGTTAGC	0.468													13	66					0	0	0	0	T	90670857	C	T	90670857	3	4	270	1	0	0	0	0	1	0	0	0	988	536	19	1	508	1	ARRDC3	5	90670857	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	596568	90670857	90244403	199	48187											
YTHDC2	64848	broad.mit.edu	37	chr5	112851047	112851047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtctcttggtttggtctCtaaaagtaaagggtaagctg	10	14	11	6	0	3	0	1	0	2	0	5	0	3	0	0	3	1	4	0	3	5	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:112851047C>T	ENST00000161863.4	+	2	479	c.266C>T	c.(265-267)tCt>tTt	p.S89F	YTHDC2_ENST00000515883.1_Missense_Mutation_p.S89F	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	89	R3H.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GGTTTGGTCTCTAAAAGTAAA	0.333													15	63					0	0	0	0	T	112851047	C	T	112851047	3	4	270	1	0	0	0	0	1	0	0	0	17593	913	32	2	272	2	YTHDC2	5	112851047	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	22180190	112851047	68064213	200	48188											
YTHDC2	64848	broad.mit.edu	37	chr5	112868689	112868689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgaaagagttgccgcagaGagacgggaaaggattggtca	13	6	16	6	2	1	4	1	1	0	3	1	7	1	6	1	3	1	3	1	3	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:112868689G>C	ENST00000161863.4	+	5	1002	c.789G>C	c.(787-789)gaG>gaC	p.E263D	YTHDC2_ENST00000515883.1_Missense_Mutation_p.E263D	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	263	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGCCGCAGAGAGACGGGAAA	0.393													19	56					0	0	0	0	C	112868689	G	C	112868689	3	2	270	1	0	0	0	0	1	0	0	0	17593	933	33	2	807	2	YTHDC2	5	112868689	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	17642	112868689	68046571	201	48189											
YTHDC2	64848	broad.mit.edu	37	chr5	112871369	112871369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaaagggatcgatttagtGattttttacttacaaagtta	14	16	8	3	1	0	2	0	2	0	0	1	4	0	3	0	1	2	1	0	1	6	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:112871369G>A	ENST00000161863.4	+	7	1189	c.976G>A	c.(976-978)Gat>Aat	p.D326N	YTHDC2_ENST00000515883.1_Missense_Mutation_p.D326N	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	326	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TCGATTTAGTGATTTTTTACT	0.303													13	48					0	0	0	0	A	112871369	G	A	112871369	3	1	270	1	0	0	0	0	1	0	0	0	17593	1290	45	2	1002	2	YTHDC2	5	112871369	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2680	112871369	68043891	202	48190											
YTHDC2	64848	broad.mit.edu	37	chr5	112889016	112889016	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtagacttggatttgatCatgcatcttctatacaatat	14	15	6	6	0	3	2	1	1	2	1	3	3	3	3	0	1	2	2	0	1	6	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:112889016C>T	ENST00000161863.4	+	13	2040	c.1827C>T	c.(1825-1827)atC>atT	p.I609I	YTHDC2_ENST00000515883.1_Silent_p.I609I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	609							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGGATTTGATCATGCATCTTC	0.343													9	21					0	0	0	0	T	112889016	C	T	112889016	2	4	270	1	0	0	0	0	0	0	0	1	17593	816	29	2		2	YTHDC2	5	112889016	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	17647	112889016	68026244	203	48191											
ZNF474	133923	broad.mit.edu	37	chr5	121488078	121488078	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaagttgcccaagcatttGaggaggccagaaccctccaa	13	6	10	12	0	0	2	0	1	0	1	1	3	1	3	4	2	4	3	4	2	4	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:121488078G>C	ENST00000296600.4	+	2	776	c.393G>C	c.(391-393)ttG>ttC	p.L131F	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	131						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CCAAGCATTTGAGGAGGCCAG	0.517													31	78					0	0	0	0	C	121488078	G	C	121488078	3	2	270	1	0	0	0	0	1	0	0	0	18027	1281	45	2	395	2	ZNF474	5	121488078	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	8599062	121488078	59427182	204	48192											
ZNF608	57507	broad.mit.edu	37	chr5	123984351	123984351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgggtctaagtgtgcatGagcctggtggtacctcaggc	6	12	14	9	0	3	1	1	1	2	0	3	1	3	1	2	4	3	2	2	4	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:123984351G>A	ENST00000306315.5	-	4	2161	c.1726C>T	c.(1726-1728)Cat>Tat	p.H576Y	ZNF608_ENST00000504926.1_Missense_Mutation_p.H149Y	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	576						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AAGTGTGCATGAGCCTGGTGG	0.493													28	89					0	0	0	0	A	123984351	G	A	123984351	3	1	270	1	0	0	0	0	1	0	0	0	18129	1290	45	2	2836	2	ZNF608	5	123984351	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2496273	123984351	56930909	205	48193											
FBN2	2201	broad.mit.edu	37	chr5	127599217	127599217	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcttggaggacgagcactCattcacgtcgtggcaggcac	8	9	13	11	3	3	0	2	0	1	0	4	3	3	2	0	4	1	4	0	4	0	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:127599217C>G	ENST00000508053.1	-	69	9066	c.8092G>C	c.(8092-8094)Gag>Cag	p.E2698Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E2698Q			P35556	FBN2_HUMAN	fibrillin 2	2698	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACGAGCACTCATTCACGTCG	0.602													43	127					0	0	0	0	G	127599217	C	G	127599217	3	3	270	1	0	0	0	0	1	0	0	0	5748	835	29	2	658	2	FBN2	5	127599217	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	3614866	127599217	53316043	206	48194											
SLC22A4	6583	broad.mit.edu	37	chr5	131671648	131671648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggtgggggtcacatccacgGcctccagagtgggcagcatc	7	6	15	13	2	1	1	1	0	0	1	4	1	3	1	3	5	1	2	3	5	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:131671648G>T	ENST00000200652.3	+	8	1573	c.1399G>T	c.(1399-1401)Gcc>Tcc	p.A467S	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	467					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CACATCCACGGCCTCCAGAGT	0.483													15	134					1.99824e-07	2.10646e-07	1	0	T	131671648	G	T	131671648	3	4	270	1	0	0	0	0	1	0	0	0	14544	1203	42	4	1429	4	SLC22A4	5	131671648	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	4072431	131671648	49243612	207	48195											
IRF1	3659	broad.mit.edu	37	chr5	131825145	131825145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgcatctctagccagggtCtcatgcgcatccgagtgatg	7	11	11	12	2	3	1	1	1	3	0	6	2	4	1	2	1	3	2	2	1	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:131825145C>T	ENST00000245414.4	-	2	284	c.26G>A	c.(25-27)aGa>aAa	p.R9K	IRF1_ENST00000463784.1_Intron|IRF1_ENST00000405885.2_Missense_Mutation_p.R9K	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	9					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TAGCCAGGGTCTCATGCGCAT	0.493													18	54					0	0	0	0	T	131825145	C	T	131825145	3	4	270	1	0	0	0	0	1	0	0	0	7880	913	32	2	987	2	IRF1	5	131825145	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	153497	131825145	49090115	208	48196											
SPOCK1	6695	broad.mit.edu	37	chr5	136315065	136315065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggagccagccaactcattcCcatatttgtccacacaccag	11	9	6	15	0	1	0	1	0	0	0	3	1	3	1	5	1	3	0	5	1	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:136315065C>T	ENST00000394945.1	-	10	1254	c.1085G>A	c.(1084-1086)gGg>gAg	p.G362E	SPOCK1_ENST00000282223.7_Missense_Mutation_p.G362E|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	362	Thyroglobulin type-1.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAACTCATTCCCATATTTGTC	0.587													4	104					0	0	0	0	T	136315065	C	T	136315065	3	4	270	1	0	0	0	0	1	0	0	0	15169	623	22	4	242	4	SPOCK1	5	136315065	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	4489920	136315065	44600195	209	48197											
KLHL3	26249	broad.mit.edu	37	chr5	137045500	137045500	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacacggtgggcttctatCtcgacatcttctgccacaat	9	11	7	14	2	4	0	0	0	4	0	5	1	4	0	2	2	1	1	2	2	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:137045500C>T	ENST00000508657.1	-	3	798	c.84G>A	c.(82-84)gaG>gaA	p.E28E	KLHL3_ENST00000394937.3_Silent_p.E60E|KLHL3_ENST00000309755.4_Silent_p.E60E	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	60						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GGGCTTCTATCTCGACATCTT	0.537													26	100					0	0	0	0	T	137045500	C	T	137045500	2	4	270	1	0	0	0	0	0	0	0	1	8435	912	32	2		2	KLHL3	5	137045500	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	730435	137045500	43869760	210	48198											
SLC4A9	83697	broad.mit.edu	37	chr5	139745591	139745591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtgtgtaaagaccagccGcttcttcccctctgtggtga	8	11	10	12	1	2	2	0	1	2	1	3	2	3	2	4	1	1	2	4	1	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:139745591G>A	ENST00000230993.6	+	13	1990	c.1955G>A	c.(1954-1956)cGc>cAc	p.R652H	SLC4A9_ENST00000507527.1_Missense_Mutation_p.R652H|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R628H|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R614H	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	652	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACCAGCCGCTTCTTCCCC	0.493													73	198					0	0	0	0	A	139745591	G	A	139745591	3	1	270	1	0	0	0	0	1	0	0	0	14748	1087	38	1	1933	1	SLC4A9	5	139745591	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2700091	139745591	41169669	211	48199											
PCDHB2	56133	broad.mit.edu	37	chr5	140475302	140475302	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgcttttaagacagaaactgGatttcgaatccatccagaca	14	11	7	9	1	0	3	0	0	0	3	3	5	2	4	2	1	2	1	2	1	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:140475302G>C	ENST00000194155.4	+	1	1076	c.928G>C	c.(928-930)Gat>Cat	p.D310H		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		310	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAAACTGGATTTCGAATC	0.408													16	49					0	0	0	0	C	140475302	G	C	140475302	3	2	270	1	0	0	0	0	1	0	0	0	11613	1174	41	2	930	2	PCDHB2	5	140475302	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	729711	140475302	40439958	212	48200											
PCDHB6	56130	broad.mit.edu	37	chr5	140530308	140530308	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcctttgaaaatggcacAcgatttagacaccggcagca	13	10	8	10	2	0	2	0	1	0	1	1	3	1	2	2	2	1	3	2	2	3	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:140530308A>T	ENST00000231136.1	+	1	470	c.470A>T	c.(469-471)cAc>cTc	p.H157L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H21L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		157	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATGGCACACGATTTAGAC	0.483													43	156					0	0	0	0	T	140530308	A	T	140530308	3	4	270	1	0	0	0	0	1	0	0	0	11617	159	6	5	472	5	PCDHB6	5	140530308	Missense_Mutation	SNP	A	TCGA-CV-6961-01A-21D-1912-08	55006	140530308	40384952	213	48201											
PCDHB15	56121	broad.mit.edu	37	chr5	140625408	140625408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgggcagttgatattaaatGagaagctggaccgggagaag	13	7	15	6	2	0	3	0	2	0	2	0	6	0	4	2	3	1	3	2	3	5	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:140625408G>A	ENST00000231173.3	+	1	262	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		88	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATATTAAATGAGAAGCTGGA	0.512													5	68					0	0	0	0	A	140625408	G	A	140625408	3	1	270	1	0	0	0	0	1	0	0	0	11611	1291	45	2	264	2	PCDHB15	5	140625408	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	95100	140625408	40289852	214	48202											
GNPDA1	10007	broad.mit.edu	37	chr5	141385711	141385711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcagagtgtcaagctcacctCcaacaaatagctcgatccca	13	7	7	14	1	2	1	2	0	0	1	5	2	4	1	3	0	3	3	3	0	4	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:141385711C>G	ENST00000508177.1	-	3	1165	c.407G>C	c.(406-408)gGa>gCa	p.G136A	GNPDA1_ENST00000513454.1_Missense_Mutation_p.G136A|GNPDA1_ENST00000458112.2_Missense_Mutation_p.G102A|GNPDA1_ENST00000500692.2_Missense_Mutation_p.G136A|GNPDA1_ENST00000503794.1_Missense_Mutation_p.G136A|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000311337.6_Missense_Mutation_p.G136A			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	136					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTCACCTCCAACAAATAG	0.532													25	76					0	0	0	0	G	141385711	C	G	141385711	3	3	270	1	0	0	0	0	1	0	0	0	6593	855	30	2	478	2	GNPDA1	5	141385711	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	760303	141385711	39529549	215	48203											
RBM27	54439	broad.mit.edu	37	chr5	145651095	145651095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgaggaaagaccatgtcctCtcaaggtcgaggaagaggcc	12	6	13	10	2	1	2	1	0	1	2	5	6	2	4	3	4	0	0	3	4	3	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:145651095C>G	ENST00000265271.5	+	19	3012	c.2846C>G	c.(2845-2847)tCt>tGt	p.S949C	RBM27_ENST00000506502.1_Missense_Mutation_p.S894C	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	949					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCATGTCCTCTCAAGGTCGA	0.478													8	30					0	0	0	0	G	145651095	C	G	145651095	3	3	270	1	0	0	0	0	1	0	0	0	13209	913	32	2	2920	2	RBM27	5	145651095	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	4265384	145651095	35264165	216	48204											
SLC6A7	6534	broad.mit.edu	37	chr5	149576346	149576346	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctcttcttcctggagctCtccctgggccagttctccag	3	12	8	18	0	4	0	0	0	4	0	7	1	5	1	6	2	1	2	6	2	0	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:149576346C>G	ENST00000230671.2	+	3	656	c.285C>G	c.(283-285)ctC>ctG	p.L95L	SLC6A7_ENST00000524041.1_Silent_p.L95L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	95						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TCCTGGAGCTCTCCCTGGGCC	0.642													39	115					0	0	0	0	G	149576346	C	G	149576346	2	3	270	1	0	0	0	0	0	0	0	1	14777	900	32	2		2	SLC6A7	5	149576346	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	3925251	149576346	31338914	217	48205											
GALNT10	55568	broad.mit.edu	37	chr5	153760021	153760021	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttcagaccgcattgctcgGaaccgcaagaccattgtgtg	9	10	10	12	3	2	2	1	0	1	2	3	3	2	3	3	1	2	3	3	1	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:153760021G>A	ENST00000297107.6	+	6	905	c.768G>A	c.(766-768)cgG>cgA	p.R256R	GALNT10_ENST00000377661.2_Silent_p.R194R|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Silent_p.R256R	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	256						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCATTGCTCGGAACCGCAAGA	0.512													43	126					0	0	0	0	A	153760021	G	A	153760021	2	1	270	1	0	0	0	0	0	0	0	1	6257	1161	41	2		2	GALNT10	5	153760021	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	4183675	153760021	27155239	218	48206											
RNF145	153830	broad.mit.edu	37	chr5	158585719	158585719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttcatctttcgcactgtGaggatattctttggggtcaa	7	16	10	8	1	4	1	2	1	2	0	5	2	4	2	0	3	1	2	0	3	2	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:158585719G>A	ENST00000424310.2	-	11	2310	c.1951C>T	c.(1951-1953)Cac>Tac	p.H651Y	RNF145_ENST00000274542.2_Missense_Mutation_p.H679Y|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000521606.2_Missense_Mutation_p.H668Y|RNF145_ENST00000518802.1_Missense_Mutation_p.H681Y|RNF145_ENST00000520638.1_Missense_Mutation_p.H665Y|RNF145_ENST00000519865.1_Missense_Mutation_p.H651Y	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	651						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCGCACTGTGAGGATATTCT	0.473													34	159					0	0	0	0	A	158585719	G	A	158585719	3	1	270	1	0	0	0	0	1	0	0	0	13532	1290	45	2	44	2	RNF145	5	158585719	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	4825698	158585719	22329541	219	48207											
RARS	5917	broad.mit.edu	37	chr5	167922356	167922356	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcccctaatatagctaaaGagatgcatgtaggccacctg	12	9	8	12	0	0	1	0	0	0	1	1	2	1	1	5	1	2	3	5	1	6	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:167922356G>C	ENST00000231572.3	+	6	670	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	206					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TATAGCTAAAGAGATGCATGT	0.428													3	161					0	0	0	0	C	167922356	G	C	167922356	3	2	270	1	0	0	0	0	1	0	0	0	13140	943	33	2	638	2	RARS	5	167922356	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	9336637	167922356	12992904	220	48208											
NSD1	64324	broad.mit.edu	37	chr5	176562391	176562391	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtctgctgatggatcagaatCctttcaagaccctgaaaaaa	14	10	8	9	0	3	4	2	2	1	2	4	5	4	5	2	1	1	1	2	1	5	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:176562391C>G	ENST00000439151.2	+	2	332	c.287C>G	c.(286-288)tCc>tGc	p.S96C	NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.S96C|NSD1_ENST00000347982.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	96					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGATCAGAATCCTTTCAAGAC	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			12	47					0	0	0	0	G	176562391	C	G	176562391	3	3	270	1	0	0	0	0	1	0	0	0	10740	855	30	2	289	2	NSD1	5	176562391	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	8640035	176562391	4352869	221	48209											
ZFP2	80108	broad.mit.edu	37	chr5	178358777	178358777	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaaagaattcatactggaGagaaaccctataaatgtaat	19	10	6	6	0	2	2	2	0	0	2	2	4	2	3	1	1	2	1	1	1	8	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:178358777G>C	ENST00000361362.2	+	5	993	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	ZFP2_ENST00000523286.1_Missense_Mutation_p.E155Q|ZFP2_ENST00000503510.2_Missense_Mutation_p.E155Q|ZFP2_ENST00000520301.1_Missense_Mutation_p.E155Q	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TCATACTGGAGAGAAACCCTA	0.413													17	52					0	0	0	0	C	178358777	G	C	178358777	3	2	270	1	0	0	0	0	1	0	0	0	17736	943	33	2	465	2	ZFP2	5	178358777	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1796386	178358777	2556483	222	48210											
ZNF354C	30832	broad.mit.edu	37	chr5	178507032	178507032	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaatatgggaaacctttCatctgcagctcctcacttac	12	11	7	11	0	3	0	2	0	1	0	4	2	4	2	2	2	4	2	2	2	5	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:178507032C>T	ENST00000315475.6	+	5	1905	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GGAAACCTTTCATCTGCAGCT	0.383													19	84					0	0	0	0	T	178507032	C	T	178507032	2	4	270	1	0	0	0	0	0	0	0	1	17961	825	29	2		2	ZNF354C	5	178507032	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	148255	178507032	2408228	223	48211											
RIPK1	8737	broad.mit.edu	37	chr6	3081283	3081283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggaatgtgctacttacatgGaaaaggcgtgatacacaagg	15	8	12	6	1	0	1	0	1	0	0	0	3	0	3	0	4	4	1	0	4	7	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:3081283G>C	ENST00000259808.4	+	4	690	c.392G>C	c.(391-393)gGa>gCa	p.G131A	RIPK1_ENST00000541791.1_Intron|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.G131A			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	131	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TACTTACATGGAAAAGGCGTG	0.368													13	42					0	0	0	0	C	3081283	G	C	3081283	3	2	270	1	0	0	0	0	1	0	0	0	13465	1174	41	2	402	2	RIPK1	6	3081283	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08		3081283	168033784	224	48212											
HIVEP1	3096	broad.mit.edu	37	chr6	12122774	12122774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcatgttcttggtactGgacagtccctggatgagagc	10	11	12	8	0	2	1	1	1	1	1	3	4	3	3	1	3	2	2	1	3	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:12122774G>A	ENST00000379388.2	+	4	3078	c.2746G>A	c.(2746-2748)Gga>Aga	p.G916R		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	916					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.G916R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCTTGGTACTGGACAGTCCCT	0.517													12	47					0	0	0	0	A	12122774	G	A	12122774	3	1	270	1	0	0	0	0	1	0	0	0	7236	1349	47	4	2756	4	HIVEP1	6	12122774	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	9041491	12122774	158992293	225	48213											
MYLIP	29116	broad.mit.edu	37	chr6	16141928	16141928	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttccccagagcaggcagtGgaactcagtgccctcctggc	7	8	12	14	0	1	1	1	0	0	1	3	2	3	2	4	3	3	3	4	3	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:16141928G>T	ENST00000356840.3	+	3	549	c.351G>T	c.(349-351)gtG>gtT	p.V117V	MYLIP_ENST00000349606.4_5'UTR	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	117	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			AGCAGGCAGTGGAACTCAGTG	0.527													9	70					3.09899e-07	3.26252e-07	1	0	T	16141928	G	T	16141928	2	4	270	1	0	0	0	0	0	0	0	1	10125	1335	47	4		4	MYLIP	6	16141928	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	4019154	16141928	154973139	226	48214											
PGBD1	84547	broad.mit.edu	37	chr6	28251866	28251866	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgctggtgctggagcagttCctgaccatcctgcccaagga	7	9	12	13	0	0	1	0	1	0	0	2	3	2	3	4	3	4	4	4	3	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:28251866C>G	ENST00000405948.2	+	2	696	c.276C>G	c.(274-276)ttC>ttG	p.F92L	PGBD1_ENST00000259883.3_Missense_Mutation_p.F92L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	92	SCAN box.				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGGAGCAGTTCCTGACCATCC	0.537													26	74					0	0	0	0	G	28251866	C	G	28251866	3	3	270	1	0	0	0	0	1	0	0	0	11852	854	30	2	278	2	PGBD1	6	28251866	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	12109938	28251866	142863201	227	48215											
TRIM39	56658	broad.mit.edu	37	chr6	30297129	30297129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgttagaggctggggcctCtgcagcctctacagctgcgg	5	10	14	12	1	3	1	0	0	3	1	3	1	3	1	2	4	5	4	2	4	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:30297129C>T	ENST00000376659.5	+	3	633	c.35C>T	c.(34-36)tCt>tTt	p.S12F	TRIM39_ENST00000396547.1_Missense_Mutation_p.S12F|TRIM39_ENST00000396548.1_Missense_Mutation_p.S12F|TRIM39_ENST00000540416.1_Missense_Mutation_p.S12F|TRIM39_ENST00000396551.3_Missense_Mutation_p.S12F|TRIM39_ENST00000376656.4_Missense_Mutation_p.S12F	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						GCTGGGGCCTCTGCAGCCTCT	0.473													50	149					0	0	0	0	T	30297129	C	T	30297129	3	4	270	1	0	0	0	0	1	0	0	0	16608	913	32	2	37	2	TRIM39	6	30297129	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2045263	30297129	140817938	228	48216											
FKBPL	63943	broad.mit.edu	37	chr6	32097143	32097143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttagctctgtccagccctCtggcggccctgatccgaaag	7	9	11	14	2	2	1	0	1	2	0	4	2	4	1	4	2	2	2	4	2	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:32097143C>T	ENST00000375156.3	-	2	685	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	139					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										GTCCAGCCCTCTGGCGGCCCT	0.562													85	228					0	0	0	0	T	32097143	C	T	32097143	3	4	270	1	0	0	0	0	1	0	0	0	5961	922	32	2	638	2	FKBPL	6	32097143	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1800014	32097143	139017924	229	48217											
FKBPL	63943	broad.mit.edu	37	chr6	32097257	32097257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgacaaagctcccatCggggcagtaccagagatcag	11	8	10	12	1	2	2	1	1	1	1	4	3	3	2	2	2	2	3	2	2	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:32097257C>A	ENST00000375156.3	-	2	571	c.301G>T	c.(301-303)Gat>Tat	p.D101Y		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	101					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										AAGCTCCCATCGGGGCAGTAC	0.517													21	84					1.01871e-10	1.09265e-10	1	0	A	32097257	C	A	32097257	3	1	270	1	0	0	0	0	1	0	0	0	5961	884	31	3	752	3	FKBPL	6	32097257	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	114	32097257	139017810	230	48218											
PRRT1	80863	broad.mit.edu	37	chr6	32118683	32118683	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagggactgagtctgggagtCctgggggaggtgagtggagg	7	7	23	4	0	1	2	0	2	1	0	2	7	2	6	1	7	0	0	1	7	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:32118683C>T	ENST00000211413.5	-	2	144	c.19_splice	c.e2-1	p.G7_splice	PRRT1_ENST00000375150.2_Intron|PRRT1_ENST00000375152.2_Intron	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	7					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GTCTGGGAGTCCTGGGGGAGG	0.607													5	11					0	0	0	0	T	32118683	C	T	32118683	5	4	270	1	0	0	0	0	0	0	1	0	12688	869	30	2	912	2	PRRT1	6	32118683	Splice_Site	SNP	C	TCGA-CV-6961-01A-21D-1912-08	21426	32118683	138996384	231	48219											
SLC39A7	7922	broad.mit.edu	37	chr6	33169037	33169037	+	Frame_Shift_Del	DEL	G	G	-																															agcgtgatggccagaggcctGggggccccccactgggtggc																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:33169037delG	ENST00000374677.3	+	1	388	c.15delG	c.(13-15)ctfs	p.L5fs	SLC39A7_ENST00000374675.3_Frame_Shift_Del_p.L5fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	5						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	p.A7fs*10(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCAGAGGCCTGGGGGCCCCCC	0.637													8	156	---	---	---	---					-	33169037	G	-	33169037	7	5	270	1	0	1	0	1	0	0	0	0	14711	1335	47	0	17	0	SLC39A7	6	33169037	Frame_Shift_Del	DEL	G	TCGA-CV-6961-01A-21D-1912-08	1050354	33169037	137946030	232	48220											
ITPR3	3710	broad.mit.edu	37	chr6	33656530	33656530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacatcatcattgccttcttCtacccttacatggagggcgc	9	12	7	13	1	4	0	2	0	2	0	4	1	4	1	2	2	4	0	2	2	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:33656530C>G	ENST00000374316.5	+	50	7726	c.6666C>G	c.(6664-6666)ttC>ttG	p.F2222L	ITPR3_ENST00000605930.1_Missense_Mutation_p.F2222L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2222					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TTGCCTTCTTCTACCCTTACA	0.612													18	68					0	0	0	0	G	33656530	C	G	33656530	3	3	270	1	0	0	0	0	1	0	0	0	7975	912	32	2	6860	2	ITPR3	6	33656530	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	487493	33656530	137458537	233	48221											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34839418	34839419	+	Frame_Shift_Ins	INS	-	-	T																															catccccatcactctggccaINStggaacatgttgtgctgaag																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:34839418_34839419insT	ENST00000192788.5	+	19	4210_4211	c.4039_4040insT	c.(4039-4041)ggafs	p.G1347fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.G1347fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1347										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CACTCTGGCCATGGAACATGTT	0.525													21	38	---	---	---	---					T	34839419	-	T	34839418	7	5	270	1	0	1	1	0	0	0	0	0	17064	217	8	0	4113	0	UHRF1BP1	6	34839418	Frame_Shift_Ins	INS	-	TCGA-CV-6961-01A-21D-1912-08	1182888	34839418	136275649	234	48222											
ZNF76	7629	broad.mit.edu	37	chr6	35260660	35260660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctctcctctcccagccGcctctgcagccgaggagagt	5	9	11	16	2	3	1	0	0	3	1	5	3	3	1	5	2	3	2	5	2	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:35260660G>T	ENST00000373953.3	+	11	1434	c.1168G>T	c.(1168-1170)Gcc>Tcc	p.A390S	ZNF76_ENST00000339411.5_Missense_Mutation_p.A390S|ZNF76_ENST00000440666.2_Missense_Mutation_p.A364S	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	390					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TCTCCCAGCCGCCTCTGCAGC	0.617													9	88					2.74318e-10	2.93833e-10	1	0	T	35260660	G	T	35260660	3	4	270	1	0	0	0	0	1	0	0	0	18229	1087	38	3	1206	3	ZNF76	6	35260660	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	421242	35260660	135854407	235	48223											
C6orf222	389384	broad.mit.edu	37	chr6	36285134	36285134	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagtgcaagacacagctttCaatctggactttcaacctta	12	12	7	10	0	3	2	2	1	1	1	3	3	3	3	1	1	3	2	1	1	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:36285134C>T	ENST00000437635.2	-	12	2135	c.1958G>A	c.(1957-1959)tGa>tAa	p.*653*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	0										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						ACACAGCTTTCAATCTGGACT	0.443													19	37					0	0	0	0	T	36285134	C	T	36285134	2	4	270	1	0	0	0	0	0	0	0	1	2377	837	29	2		2	C6orf222	6	36285134	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1024474	36285134	134829933	236	48224											
GSTA3	2940	broad.mit.edu	37	chr6	52767169	52767169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctttatgtctttccCgtagaggttgtatttgctgg	4	19	9	9	1	2	1	0	0	2	1	5	1	4	1	2	2	1	4	2	2	3	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:52767169C>T	ENST00000211122.3	-	4	312	c.247G>A	c.(247-249)Ggg>Agg	p.G83R	GSTA3_ENST00000370968.1_Missense_Mutation_p.G33R	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	83	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	ATGTCTTTCCCGTAGAGGTTG	0.448													50	147					0	0	0	0	T	52767169	C	T	52767169	3	4	270	1	0	0	0	0	1	0	0	0	6882	652	23	1	437	1	GSTA3	6	52767169	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	16482035	52767169	118347898	237	48225											
SNAP91	9892	broad.mit.edu	37	chr6	84311158	84311158	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaagtgcagccaaagaatCtatatttcaccagagacaga	17	7	9	8	0	2	3	1	0	1	3	2	5	2	4	2	1	2	1	2	1	5	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:84311158C>G	ENST00000428679.2	-	16	1750		c.e16-1		SNAP91_ENST00000521743.1_Splice_Site|SNAP91_ENST00000439399.2_Splice_Site|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000369694.2_Splice_Site|SNAP91_ENST00000520302.1_Splice_Site|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521485.1_Splice_Site|SNAP91_ENST00000195649.6_Splice_Site			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa						clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCCAAAGAATCTATATTTCAC	0.413													5	40					0	0	0	0	G	84311158	C	G	84311158	5	3	270	1	0	0	0	0	0	0	1	0	14921	927	32	2	1623	2	SNAP91	6	84311158	Splice_Site	SNP	C	TCGA-CV-6961-01A-21D-1912-08	31543989	84311158	86803909	238	48226											
CNR1	1268	broad.mit.edu	37	chr6	88854153	88854153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagtacgctggtgacccCgatccagaacatcaggtagg	12	6	12	11	2	1	2	1	1	0	1	2	3	2	2	3	3	3	4	3	3	4	2	rs140051374		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:88854153C>A	ENST00000537554.1	-	2	4403	c.841G>T	c.(841-843)Ggg>Tgg	p.G281W	CNR1_ENST00000468898.1_Missense_Mutation_p.G248W|CNR1_ENST00000549716.1_Missense_Mutation_p.G220W|CNR1_ENST00000369501.2_Missense_Mutation_p.G281W|CNR1_ENST00000369499.2_Missense_Mutation_p.G281W|CNR1_ENST00000549890.1_Missense_Mutation_p.G281W|CNR1_ENST00000535130.1_Missense_Mutation_p.G281W|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.G281W	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	281					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CTGGTGACCCCGATCCAGAAC	0.532													4	74					0.00909568	0.00929367	1	0	A	88854153	C	A	88854153	3	1	270	1	0	0	0	0	1	0	0	0	3661	652	23	3	581	3	CNR1	6	88854153	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	4542995	88854153	82260914	239	48227											
MDN1	23195	broad.mit.edu	37	chr6	90402813	90402813	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggtctaaaggcctgtttCttcaacaggtgacaggttaa	10	12	12	7	0	3	1	1	1	2	0	3	1	3	1	1	5	1	2	1	5	4	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:90402813C>T	ENST00000369393.3	-	63	10051	c.9936G>A	c.(9934-9936)aaG>aaA	p.K3312K	MDN1_ENST00000428876.1_Silent_p.K3312K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3312					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGCCTGTTTCTTCAACAGGT	0.512													14	35					0	0	0	0	T	90402813	C	T	90402813	2	4	270	1	0	0	0	0	0	0	0	1	9484	912	32	2		2	MDN1	6	90402813	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1548660	90402813	80712254	240	48228											
BACH2	60468	broad.mit.edu	37	chr6	90648025	90648025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcatcatctggaaatcgttCcttggaagatctgtgatttg	10	15	9	7	1	4	2	2	1	2	1	6	4	5	4	1	2	0	1	1	2	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:90648025C>A	ENST00000257749.4	-	8	2588	c.1881G>T	c.(1879-1881)agG>agT	p.R627S	BACH2_ENST00000537989.1_Missense_Mutation_p.R627S|BACH2_ENST00000343122.3_Missense_Mutation_p.R627S	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	627						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGAAATCGTTCCTTGGAAGAT	0.423													18	43					3.51602e-12	3.80187e-12	1	0	A	90648025	C	A	90648025	3	1	270	1	0	0	0	0	1	0	0	0	1288	854	30	2	652	2	BACH2	6	90648025	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	245212	90648025	80467042	241	48229											
ARMC2	84071	broad.mit.edu	37	chr6	109285456	109285456	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgcctgtggtgttctcctCaatctcactgtggataaaga	8	14	9	10	0	4	1	2	0	3	1	6	2	4	2	2	2	1	1	2	2	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:109285456C>T	ENST00000392644.4	+	16	2394	c.2226C>T	c.(2224-2226)ctC>ctT	p.L742L	ARMC2_ENST00000481850.1_3'UTR|ARMC2_ENST00000368972.3_Silent_p.L577L	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	742							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GTGTTCTCCTCAATCTCACTG	0.473													9	25					0	0	0	0	T	109285456	C	T	109285456	2	4	270	1	0	0	0	0	0	0	0	1	955	813	29	2		2	ARMC2	6	109285456	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	18637431	109285456	61829611	242	48230											
ZBTB24	9841	broad.mit.edu	37	chr6	109788881	109788881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattctgatgtgggtctgaaGagaactctttgctgtgaaag	10	13	13	5	0	3	4	0	3	3	1	3	6	3	4	0	1	2	1	0	1	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:109788881G>A	ENST00000230122.3	-	6	1512	c.1345C>T	c.(1345-1347)Ctt>Ttt	p.L449F		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGGGTCTGAAGAGAACTCTTT	0.373													4	23					0	0	0	0	A	109788881	G	A	109788881	3	1	270	1	0	0	0	0	1	0	0	0	17626	942	33	2	756	2	ZBTB24	6	109788881	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	503425	109788881	61326186	243	48231											
RSPH4A	345895	broad.mit.edu	37	chr6	116938309	116938309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataacaacgctaaacagaaaGagctgagatttgacgttttt	16	11	8	6	2	0	4	0	2	0	3	0	5	0	4	0	0	4	3	0	0	5	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:116938309G>A	ENST00000229554.5	+	1	660	c.523G>A	c.(523-525)Gag>Aag	p.E175K	RSPH4A_ENST00000368580.4_Missense_Mutation_p.E175K|RSPH4A_ENST00000368581.4_Missense_Mutation_p.E175K	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	175					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TAAACAGAAAGAGCTGAGATT	0.512									Kartagener syndrome				33	116					0	0	0	0	A	116938309	G	A	116938309	3	1	270	1	0	0	0	0	1	0	0	0	13791	943	33	2	525	2	RSPH4A	6	116938309	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	7149428	116938309	54176758	244	48232											
SLC35D3	340146	broad.mit.edu	37	chr6	137243566	137243566	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtgcggcgaggccggcgcGatgcggcagctgtgccgggg	3	4	23	11	7	0	0	0	0	0	0	0	2	0	0	2	7	4	2	2	7	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:137243566G>A	ENST00000331858.4	+	0	165					NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3						carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		AGGCCGGCGCGATGCGGCAGC	0.746													4	9					0	0	0	0	A	137243566	G	A	137243566	1	1	270	1	0	0	0	0	0	0	0	0	14671	1073	37	1		1	SLC35D3	6	137243566	Translation_Start_Site	SNP	G	TCGA-CV-6961-01A-21D-1912-08	20305257	137243566	33871501	245	48233											
HIVEP2	3097	broad.mit.edu	37	chr6	143091557	143091557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactggctggagaaagcattCgcttgctacctcccagggtg	8	10	12	11	1	0	1	0	0	0	1	2	2	1	1	2	3	4	4	2	3	3	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:143091557C>T	ENST00000367603.2	-	5	5061	c.4319G>A	c.(4318-4320)cGa>cAa	p.R1440Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1440Q|HIVEP2_ENST00000367604.1_Missense_Mutation_p.R1440Q	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGAAAGCATTCGCTTGCTACC	0.517													23	57					0	0	0	0	T	143091557	C	T	143091557	3	4	270	1	0	0	0	0	1	0	0	0	7237	884	31	1	3045	1	HIVEP2	6	143091557	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	5847991	143091557	28023510	246	48234											
IGF2R	3482	broad.mit.edu	37	chr6	160484469	160484469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaactgtgaggtgaaagaCccaaggcatggcaacttgta	14	7	12	8	0	0	3	0	2	0	1	0	4	0	3	1	3	2	3	1	3	5	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:160484469C>G	ENST00000356956.1	+	27	3841	c.3693C>G	c.(3691-3693)gaC>gaG	p.D1231E		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1231					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGTGAAAGACCCAAGGCATG	0.493													13	74					0	0	0	0	G	160484469	C	G	160484469	3	3	270	1	0	0	0	0	1	0	0	0	7629	506	18	4	3799	4	IGF2R	6	160484469	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	17392912	160484469	10630598	247	48235											
PLG	5340	broad.mit.edu	37	chr6	161134112	161134112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccctggtgctatactactGatccagaaaagagatatgac	13	9	10	9	0	0	4	0	2	0	2	1	5	1	4	2	2	3	1	2	2	6	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:161134112G>C	ENST00000308192.9	+	5	565	c.502G>C	c.(502-504)Gat>Cat	p.D168H	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	168	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTATACTACTGATCCAGAAAA	0.478													24	143					0	0	0	0	C	161134112	G	C	161134112	3	2	270	1	0	0	0	0	1	0	0	0	12158	1290	45	2	524	2	PLG	6	161134112	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	649643	161134112	9980955	248	48236											
SDK1	221935	broad.mit.edu	37	chr7	4213926	4213926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggagctggagtatgaaGccgggtcaggcactgaggcc	10	5	17	9	1	1	2	1	2	0	0	1	4	1	4	2	5	2	3	2	5	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:4213926G>T	ENST00000404826.2	+	33	5012	c.4873G>T	c.(4873-4875)Gcc>Tcc	p.A1625S	SDK1_ENST00000389531.3_Missense_Mutation_p.A1625S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1625	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGTATGAAGCCGGGTCAGG	0.552													42	256					1.38658e-30	1.53893e-30	1	0	T	4213926	G	T	4213926	3	4	270	1	0	0	0	0	1	0	0	0	14055	971	34	4	5003	4	SDK1	7	4213926	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08		4213926	154924737	249	48237											
RSPH10B	222967	broad.mit.edu	37	chr7	5967846	5967846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgcttccagttcgtcatCttccatcttccgctgctggg	3	15	8	15	2	3	0	1	0	2	0	7	0	6	0	4	1	2	4	4	1	0	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:5967846C>T	ENST00000405415.1	-	19	2799	c.2413G>A	c.(2413-2415)Gat>Aat	p.D805N	RSPH10B_ENST00000404406.1_Missense_Mutation_p.D805N|RSPH10B_ENST00000337579.3_Missense_Mutation_p.D805N|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000441023.2_Missense_Mutation_p.D805N			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	805										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		AGTTCGTCATCTTCCATCTTC	0.522													46	253					0	0	0	0	T	5967846	C	T	5967846	3	4	270	1	0	0	0	0	1	0	0	0	13788	913	32	2	207	2	RSPH10B	7	5967846	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1753920	5967846	153170817	250	48238											
DGKB	1607	broad.mit.edu	37	chr7	14613864	14613864	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggaaaagtaattattgatGatactgtaaggcactgggtc	14	12	11	4	0	0	2	0	2	0	0	1	3	0	3	0	3	1	3	0	3	6	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:14613864G>A	ENST00000403951.2	-	20	2165	c.1746C>T	c.(1744-1746)atC>atT	p.I582I	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Silent_p.I574I|DGKB_ENST00000406247.3_Silent_p.I582I|DGKB_ENST00000402815.1_Silent_p.I581I|DGKB_ENST00000258767.5_Silent_p.I582I|DGKB_ENST00000444700.2_Silent_p.I563I|DGKB_ENST00000399322.3_Silent_p.I582I			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	582					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AATTATTGATGATACTGTAAG	0.358													4	160					0	0	0	0	A	14613864	G	A	14613864	2	1	270	1	0	0	0	0	0	0	0	1	4503	1280	45	2		2	DGKB	7	14613864	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	8646018	14613864	144524799	251	48239											
TWIST1	7291	broad.mit.edu	37	chr7	19156446	19156446	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatcttggagtccagctCgtcgctctggaggacctggt	5	11	13	12	2	2	0	0	0	2	0	5	3	3	3	3	4	2	2	3	4	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:19156446C>A	ENST00000242261.5	-	1	849	c.499G>T	c.(499-501)Gag>Tag	p.E167*		NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	167	Sufficient for transactivation activity (By similarity).				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						GAGTCCAGCTCGTCGCTCTGG	0.617													9	18					1.58986e-06	1.66498e-06	1	0	A	19156446	C	A	19156446	4	1	270	1	0	0	0	0	0	1	0	0	16879	893	31	3	113	3	TWIST1	7	19156446	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	4542582	19156446	139982217	252	48240											
ABCB5	340273	broad.mit.edu	37	chr7	20739704	20739704	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttattttacggcagagcaggGgaaattttaacgatgagatt	13	13	11	4	2	0	2	0	1	0	2	0	5	0	3	0	3	3	2	0	3	4	6	rs148327292		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:20739704G>T	ENST00000404938.2	+	19	2935	c.2283G>T	c.(2281-2283)ggG>ggT	p.G761G	ABCB5_ENST00000258738.6_Silent_p.G316G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	316	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCAGAGCAGGGGAAATTTTAA	0.284													12	39					0.00244969	0.0025159	1	0	T	20739704	G	T	20739704	2	4	270	1	0	0	0	0	0	0	0	1	44	1219	43	4		4	ABCB5	7	20739704	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1583258	20739704	138398959	253	48241											
DNAH11	8701	broad.mit.edu	37	chr7	21621571	21621571	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtccaaaactctggaatttGacagaaggcttgggacaatt	14	10	10	7	0	1	2	0	1	1	1	2	4	2	4	1	3	1	1	1	3	5	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:21621571G>C	ENST00000328843.6	+	9	1673	c.1642G>C	c.(1642-1644)Gac>Cac	p.D548H	DNAH11_ENST00000409508.3_Missense_Mutation_p.D548H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	548	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTGGAATTTGACAGAAGGCT	0.333									Kartagener syndrome				3	92					0	0	0	0	C	21621571	G	C	21621571	3	2	270	1	0	0	0	0	1	0	0	0	4636	1290	45	2	1676	2	DNAH11	7	21621571	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	881867	21621571	137517092	254	48242											
DNAH11	8701	broad.mit.edu	37	chr7	21639530	21639530	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgacttagacttctttctGaagaatacagagaaacaatt	16	11	6	8	1	2	4	0	1	2	3	2	6	2	4	0	0	2	0	0	0	6	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:21639530G>A	ENST00000328843.6	+	15	2824	c.2793G>A	c.(2791-2793)ctG>ctA	p.L931L	DNAH11_ENST00000409508.3_Silent_p.L931L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	931	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTTCTTTCTGAAGAATACAG	0.403									Kartagener syndrome				13	16					0	0	0	0	A	21639530	G	A	21639530	2	1	270	1	0	0	0	0	0	0	0	1	4636	1277	45	2		2	DNAH11	7	21639530	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	17959	21639530	137499133	255	48243											
NPC1L1	29881	broad.mit.edu	37	chr7	44578910	44578910	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgccaaggccaccacCgggatgacagatagcaccaa	12	3	10	16	2	0	2	0	1	0	1	0	3	0	3	6	2	2	2	6	2	3	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:44578910C>T	ENST00000289547.4	-	2	1141	c.1086G>A	c.(1084-1086)ccG>ccA	p.P362P	NPC1L1_ENST00000423141.1_Silent_p.P362P|NPC1L1_ENST00000381160.3_Silent_p.P362P|NPC1L1_ENST00000546276.1_Silent_p.P362P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	362					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGGCCACCACCGGGATGACAG	0.622													34	101					0	0	0	0	T	44578910	C	T	44578910	2	4	270	1	0	0	0	0	0	0	0	1	10641	639	23	1		1	NPC1L1	7	44578910	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	22939380	44578910	114559753	256	48244											
POM121L12	285877	broad.mit.edu	37	chr7	53103789	53103789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtgaccatcgggatcgCgccccctgagcgtcaggaga	7	5	14	15	5	1	3	1	2	0	1	3	5	1	4	4	3	1	0	4	3	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:53103789C>T	ENST00000408890.4	+	1	441	c.425C>T	c.(424-426)gCg>gTg	p.A142V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	142								p.A142V(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ATCGGGATCGCGCCCCCTGAG	0.721													13	30					0	0	0	0	T	53103789	C	T	53103789	3	4	270	1	0	0	0	0	1	0	0	0	12313	768	27	1	427	1	POM121L12	7	53103789	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	8524879	53103789	106034874	257	48245											
EGFR	1956	broad.mit.edu	37	chr7	55224337	55224337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgatctccacatcctgcCggtggcatttagggggtgag	6	10	15	10	2	1	1	0	1	1	0	3	2	2	1	3	5	1	1	3	5	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:55224337C>A	ENST00000275493.2	+	9	1295	c.1118C>A	c.(1117-1119)cCg>cAg	p.P373Q	EGFR_ENST00000342916.3_Missense_Mutation_p.P373Q|EGFR_ENST00000344576.2_Missense_Mutation_p.P373Q|EGFR_ENST00000442591.1_Missense_Mutation_p.P373Q|EGFR_ENST00000454757.2_Missense_Mutation_p.P320Q|EGFR_ENST00000420316.2_Missense_Mutation_p.P373Q|EGFR_ENST00000455089.1_Missense_Mutation_p.P328Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	373					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CACATCCTGCCGGTGGCATTT	0.403		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			13	57					1.3612e-06	1.42739e-06	1	0	A	55224337	C	A	55224337	3	1	270	1	0	0	0	0	1	0	0	0	5003	652	23	3	1152	3	EGFR	7	55224337	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2120548	55224337	103914326	258	48246											
SUMF2	25870	broad.mit.edu	37	chr7	56142396	56142396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgactgcccacggaggaaGagtgggagtttgccgcccga	10	5	15	11	4	0	1	0	0	0	1	0	6	0	4	3	3	3	1	3	3	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:56142396G>A	ENST00000434526.2	+	5	590	c.559G>A	c.(559-561)Gag>Aag	p.E187K	SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.E168K|SUMF2_ENST00000342190.6_Missense_Mutation_p.E187K|SUMF2_ENST00000395436.2_Missense_Mutation_p.E172K|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000275607.9_Missense_Mutation_p.E80K	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	168						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACGGAGGAAGAGTGGGAGTT	0.567											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	112					0	0	0	0	A	56142396	G	A	56142396	3	1	270	1	0	0	0	0	1	0	0	0	15476	943	33	2	577	2	SUMF2	7	56142396	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	918059	56142396	102996267	259	48247											
ZNF107	51427	broad.mit.edu	37	chr7	64168926	64168927	+	Frame_Shift_Ins	INS	-	-	A																															atactggagagaaaccctacINSaaatgtggagattatggcag																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:64168926_64168927insA	ENST00000395391.1	+	4	3619_3620	c.2244_2245insA	c.(2242-2247)taaatgfs	p.M749fs	ZNF107_ENST00000344930.3_Frame_Shift_Ins_p.M749fs|ZNF107_ENST00000423627.1_Frame_Shift_Ins_p.M749fs			Q9UII5	ZN107_HUMAN	zinc finger protein 107	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AGAAACCCTACAAATGTGGAGA	0.361													13	19	---	---	---	---					A	64168927	-	A	64168926	7	5	270	1	0	1	1	0	0	0	0	0	17810	489	17	0	2250	0	ZNF107	7	64168926	Frame_Shift_Ins	INS	-	TCGA-CV-6961-01A-21D-1912-08	8026530	64168926	94969737	260	48248											
LIMK1	3984	broad.mit.edu	37	chr7	73520530	73520530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgagctctccggcttatactCccagcggggaggcgggcagc	6	7	15	13	3	1	1	0	1	1	0	3	2	2	2	2	5	4	3	2	5	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:73520530C>T	ENST00000418310.1	+	7	1030	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	LIMK1_ENST00000538333.3_Missense_Mutation_p.P246S|LIMK1_ENST00000336180.2_Missense_Mutation_p.P280S			P53667	LIMK1_HUMAN	LIM domain kinase 1	280					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GGCTTATACTCCCAGCGGGGA	0.657													36	176					0	0	0	0	T	73520530	C	T	73520530	3	4	270	1	0	0	0	0	1	0	0	0	8855	855	30	2	864	2	LIMK1	7	73520530	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	9351604	73520530	85618133	261	48249											
LIMK1	3984	broad.mit.edu	37	chr7	73521420	73521420	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgcaaggacctgggtcgctCtgagtccctccgcgtagtct	5	9	13	14	4	2	1	0	1	2	0	5	2	4	2	3	2	0	3	3	2	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:73521420C>G	ENST00000418310.1	+	8	1154	c.1052C>G	c.(1051-1053)tCt>tGt	p.S351C	LIMK1_ENST00000538333.3_Missense_Mutation_p.S287C|LIMK1_ENST00000336180.2_Missense_Mutation_p.S321C			P53667	LIMK1_HUMAN	LIM domain kinase 1	321	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CTGGGTCGCTCTGAGTCCCTC	0.697													3	18					0	0	0	0	G	73521420	C	G	73521420	3	3	270	1	0	0	0	0	1	0	0	0	8855	913	32	2	992	2	LIMK1	7	73521420	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	890	73521420	85617243	262	48250											
CACNA2D1	781	broad.mit.edu	37	chr7	81662153	81662153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttaaatatctcctgggctCtctcttctcctccatccgtg	5	16	6	14	1	4	0	0	0	4	0	9	0	6	0	4	1	0	2	4	1	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:81662153C>T	ENST00000356860.3	-	12	1441	c.1103G>A	c.(1102-1104)aGa>aAa	p.R368K	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R368K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	368	VWFA.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTCCTGGGCTCTCTCTTCTCC	0.279													13	24					0	0	0	0	T	81662153	C	T	81662153	3	4	270	1	0	0	0	0	1	0	0	0	2573	913	32	2	2284	2	CACNA2D1	7	81662153	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	8140733	81662153	77476510	263	48251											
STEAP4	79689	broad.mit.edu	37	chr7	87913538	87913538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacagtctcttgcttttctGaagaattcatagtaagagga	13	14	8	6	0	3	3	1	1	2	2	4	4	3	4	0	1	2	2	0	1	5	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:87913538G>A	ENST00000380079.4	-	2	148	c.47C>T	c.(46-48)tCa>tTa	p.S16L	AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.S16L|STEAP4_ENST00000414498.1_Missense_Mutation_p.S16L	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	16					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TTGCTTTTCTGAAGAATTCAT	0.353													10	34					0	0	0	0	A	87913538	G	A	87913538	3	1	270	1	0	0	0	0	1	0	0	0	15370	1294	45	2	1348	2	STEAP4	7	87913538	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	6251385	87913538	71225125	264	48252											
NPTX2	4885	broad.mit.edu	37	chr7	98256620	98256620	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggccccctggcaccccatCaagcccgggggcgtgctgat	5	6	13	17	2	1	1	1	1	0	0	1	1	1	1	5	4	2	2	5	4	1	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:98256620C>G	ENST00000265634.3	+	4	1197	c.1032C>G	c.(1030-1032)atC>atG	p.I344M		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	344	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GGCACCCCATCAAGCCCGGGG	0.662													16	40					0	0	0	0	G	98256620	C	G	98256620	3	3	270	1	0	0	0	0	1	0	0	0	10674	816	29	2	1046	2	NPTX2	7	98256620	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	10343082	98256620	60882043	265	48253											
TRRAP	8295	broad.mit.edu	37	chr7	98545957	98545957	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaacggagcgggcgatgctGatcgaggtaagggccatact	12	6	15	8	4	0	1	0	1	0	0	1	4	0	2	1	4	4	2	1	4	4	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:98545957G>C	ENST00000359863.4	+	33	4850	c.4641G>C	c.(4639-4641)ctG>ctC	p.L1547L	TRRAP_ENST00000355540.3_Silent_p.L1529L|TRRAP_ENST00000446306.3_Silent_p.L1528L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1547					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCGATGCTGATCGAGGTAA	0.512													13	50					0	0	0	0	C	98545957	G	C	98545957	2	2	270	1	0	0	0	0	0	0	0	1	16696	1277	45	2		2	TRRAP	7	98545957	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	289337	98545957	60592706	266	48254											
MCM7	4176	broad.mit.edu	37	chr7	99696309	99696309	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcctggcttgggcacatGatcagaggcatgaaagtggg	10	8	14	9	0	1	3	1	2	0	1	2	3	2	3	1	4	0	3	1	4	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:99696309G>A	ENST00000303887.5	-	6	1257	c.612C>T	c.(610-612)atC>atT	p.I204I	MCM7_ENST00000343023.6_Silent_p.I204I|MCM7_ENST00000354230.3_Silent_p.I28I	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	204					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TTGGGCACATGATCAGAGGCA	0.517													25	88					0	0	0	0	A	99696309	G	A	99696309	2	1	270	1	0	0	0	0	0	0	0	1	9461	1280	45	2		2	MCM7	7	99696309	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1150352	99696309	59442354	267	48255											
TAF6	6878	broad.mit.edu	37	chr7	99710524	99710524	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttctgtggcttcagccttCtgttgctctttgggagctgg	2	16	14	9	0	4	0	1	0	3	0	4	1	4	1	1	4	3	5	1	4	0	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:99710524C>T	ENST00000344095.4	-	6	996	c.471G>A	c.(469-471)caG>caA	p.Q157Q	TAF6_ENST00000418432.2_Silent_p.Q81Q|TAF6_ENST00000437822.2_Silent_p.Q194Q|TAF6_ENST00000472509.1_Silent_p.Q214Q|TAF6_ENST00000453269.2_Silent_p.Q157Q|TAF6_ENST00000452041.1_Silent_p.Q157Q	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	157					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q157Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTCAGCCTTCTGTTGCTCTT	0.602													77	187					0	0	0	0	T	99710524	C	T	99710524	2	4	270	1	0	0	0	0	0	0	0	1	15621	912	32	2		2	TAF6	7	99710524	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	14215	99710524	59428139	268	48256											
FBXL13	222235	broad.mit.edu	37	chr7	102553560	102553560	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagccagagaggtccagataGatgagcttgtggcatccatt	11	9	12	9	0	0	4	0	1	0	3	2	5	2	4	3	2	2	2	3	2	1	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:102553560G>C	ENST00000393772.2	-	11	1407	c.981C>G	c.(979-981)atC>atG	p.I327M	FBXL13_ENST00000379308.3_Missense_Mutation_p.I327M|LRRC17_ENST00000339431.4_5'UTR|FBXL13_ENST00000455112.2_Missense_Mutation_p.I327M|FBXL13_ENST00000379306.3_Missense_Mutation_p.I327M|FBXL13_ENST00000313221.4_Missense_Mutation_p.I327M|FBXL13_ENST00000436908.1_Missense_Mutation_p.I327M|LRRC17_ENST00000249377.4_5'UTR|FBXL13_ENST00000456695.1_Missense_Mutation_p.I327M|FBXL13_ENST00000379305.3_Missense_Mutation_p.I327M			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	327										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GGTCCAGATAGATGAGCTTGT	0.488													5	22					0	0	0	0	C	102553560	G	C	102553560	3	2	270	1	0	0	0	0	1	0	0	0	5754	932	33	2	1266	2	FBXL13	7	102553560	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2843036	102553560	56585103	269	48257											
FSCN3	29999	broad.mit.edu	37	chr7	127236417	127236417	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttctgagcgcttaaacCgaatgtccttgttccagttt	7	15	8	11	2	1	1	0	1	1	0	3	2	3	1	3	0	3	4	3	0	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:127236417C>T	ENST00000265825.5	+	3	1096	c.877C>T	c.(877-879)Cga>Tga	p.R293*	FSCN3_ENST00000420086.2_Nonsense_Mutation_p.R159*	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	293						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCGCTTAAACCGAATGTCCTT	0.537													44	86					0	0	0	0	T	127236417	C	T	127236417	4	4	270	1	0	0	0	0	0	1	0	0	6117	644	23	1	887	1	FSCN3	7	127236417	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	24682857	127236417	31902246	270	48258											
TMEM140	55281	broad.mit.edu	37	chr7	134849728	134849728	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgagggctgagagggctGagagcaagcttgagagctgc	9	7	17	8	0	1	4	0	4	1	3	1	7	1	4	0	2	4	5	0	2	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:134849728G>C	ENST00000275767.2	+	2	758	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	C7orf49_ENST00000459937.1_Intron	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	179						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						TGAGAGGGCTGAGAGCAAGCT	0.557													14	30					0	0	0	0	C	134849728	G	C	134849728	3	2	270	1	0	0	0	0	1	0	0	0	16149	1291	45	2	537	2	TMEM140	7	134849728	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	7613311	134849728	24288935	271	48259											
KIAA1549	57670	broad.mit.edu	37	chr7	138603406	138603406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacagtggtcacatcagtGtatctgtctgcacttgtggc	9	12	10	10	0	4	0	2	0	2	0	4	0	4	0	0	2	2	2	0	2	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:138603406G>A	ENST00000440172.1	-	2	1014	c.966C>T	c.(964-966)taC>taT	p.Y322Y	KIAA1549_ENST00000422774.1_Silent_p.Y322Y|KIAA1549_ENST00000242365.4_Silent_p.Y272Y	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	322						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCACATCAGTGTATCTGTCTG	0.542			O	BRAF	pilocytic astrocytoma								36	48					0	0	0	0	A	138603406	G	A	138603406	2	1	270	1	0	0	0	0	0	0	0	1	8295	1372	48	4		4	KIAA1549	7	138603406	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3753678	138603406	20535257	272	48260											
PDGFRL	5157	broad.mit.edu	37	chr8	17486079	17486079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacaggctgtggttccttgtCgggtgaccgtgctgtcggcc	3	11	16	11	3	0	1	0	1	0	0	3	2	1	1	3	4	1	3	3	4	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:17486079C>T	ENST00000541323.1	+	5	1034	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	PDGFRL_ENST00000398074.3_Missense_Mutation_p.R197W|PDGFRL_ENST00000251630.6_Missense_Mutation_p.R197W	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	197						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		GGTTCCTTGTCGGGTGACCGT	0.532													34	89					0	0	0	0	T	17486079	C	T	17486079	3	4	270	1	0	0	0	0	1	0	0	0	11734	875	31	1	603	1	PDGFRL	8	17486079	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08		17486079	128877943	273	48261											
PIWIL2	55124	broad.mit.edu	37	chr8	22210625	22210625	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatggtggtgtttgtagttCagaagaaaatcagtactaat	14	13	11	3	0	2	3	2	0	0	3	2	3	2	3	0	2	1	4	0	2	6	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:22210625C>T	ENST00000356766.6	+	21	2705	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.Q853*|PIWIL2_ENST00000454009.2_Nonsense_Mutation_p.Q853*	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	853	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GTTTGTAGTTCAGAAGAAAAT	0.413													33	68					0	0	0	0	T	22210625	C	T	22210625	4	4	270	1	0	0	0	0	0	1	0	0	12030	827	29	2	2635	2	PIWIL2	8	22210625	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	4724546	22210625	124153397	274	48262											
BIN3	55909	broad.mit.edu	37	chr8	22494439	22494439	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggttgacactcactgctGaagttttccatactcccttt	7	15	8	11	0	1	2	1	2	0	0	3	2	3	2	2	2	2	3	2	2	2	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:22494439G>A	ENST00000276416.6	-	3	162	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	BIN3_ENST00000399977.4_Silent_p.F4F|BIN3_ENST00000520292.1_Nonsense_Mutation_p.Q32*|BIN3_ENST00000519513.1_Intron|BIN3_ENST00000519335.1_5'UTR	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	32	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACTCACTGCTGAAGTTTTCCA	0.547													10	44					0	0	0	0	A	22494439	G	A	22494439	4	1	270	1	0	0	0	0	0	1	0	0	1439	1299	45	2	695	2	BIN3	8	22494439	Nonsense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	283814	22494439	123869583	275	48263											
TNFRSF10B	8795	broad.mit.edu	37	chr8	22886091	22886091	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggtgtacaatcaccGaccttgaccatccctctggg	8	9	9	15	1	2	1	1	1	1	0	4	2	4	1	5	2	1	1	5	2	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:22886091G>T	ENST00000276431.4	-	5	785	c.501C>A	c.(499-501)gtC>gtA	p.V167V	TNFRSF10B_ENST00000347739.3_Silent_p.V167V|TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000542226.1_Silent_p.V16V	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	167					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TACAATCACCGACCTTGACCA	0.562													32	96					9.78485e-24	1.08298e-23	1	0	T	22886091	G	T	22886091	2	4	270	1	0	0	0	0	0	0	0	1	16375	1045	37	3		3	TNFRSF10B	8	22886091	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	391652	22886091	123477931	276	48264											
UNC5D	137970	broad.mit.edu	37	chr8	35616848	35616848	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcctataggaagtggtttCagatgaaaggcatcaaggtg	12	11	12	6	0	3	2	2	1	1	1	4	3	3	3	1	4	0	2	1	4	5	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:35616848C>G	ENST00000287272.2	+	13	1987	c.1967C>G	c.(1966-1968)tCa>tGa	p.S656*	UNC5D_ENST00000453357.2_Nonsense_Mutation_p.S720*|UNC5D_ENST00000404895.2_Nonsense_Mutation_p.S725*|UNC5D_ENST00000449677.1_Nonsense_Mutation_p.S301*|UNC5D_ENST00000420357.1_Nonsense_Mutation_p.S658*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.S730*			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	725					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAAGTGGTTTCAGATGAAAGG	0.378													22	68					0	0	0	0	G	35616848	C	G	35616848	4	3	270	1	0	0	0	0	0	1	0	0	17091	838	29	2	2228	2	UNC5D	8	35616848	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	12730757	35616848	110747174	277	48265											
WHSC1L1	54904	broad.mit.edu	37	chr8	38162181	38162181	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggaatgattactacagatGagaatgtaggaggatactaa	16	11	11	3	0	0	3	0	2	0	2	0	7	0	6	0	3	3	1	0	3	7	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:38162181G>A	ENST00000317025.8	-	14	3052	c.2535C>T	c.(2533-2535)ctC>ctT	p.L845L	WHSC1L1_ENST00000527502.1_Silent_p.L845L|WHSC1L1_ENST00000433384.2_Silent_p.L845L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	845					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TACTACAGATGAGAATGTAGG	0.438			T	NUP98	AML								17	94					0	0	0	0	A	38162181	G	A	38162181	2	1	270	1	0	0	0	0	0	0	0	1	17459	1277	45	2		2	WHSC1L1	8	38162181	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2545333	38162181	108201841	278	48266											
THAP1	55145	broad.mit.edu	37	chr8	42693174	42693174	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacctctttctgatacgtcGtctttctctttctggaagtg	6	18	7	10	2	5	1	0	1	5	0	7	2	5	2	1	1	2	0	1	1	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:42693174G>A	ENST00000254250.3	-	3	803	c.573C>T	c.(571-573)gaC>gaT	p.D191D	THAP1_ENST00000345117.2_3'UTR	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	191					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGATACGTCGTCTTTCTCTT	0.388													24	87					0	0	0	0	A	42693174	G	A	42693174	2	1	270	1	0	0	0	0	0	0	0	1	15935	1136	40	1		1	THAP1	8	42693174	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	4530993	42693174	103670848	279	48267											
HGSNAT	138050	broad.mit.edu	37	chr8	43048965	43048965	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaccatcaactccatcgtGatggcctttttaggagttca	9	12	9	11	1	2	1	2	1	0	0	4	2	3	2	3	3	1	2	3	3	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:43048965G>A	ENST00000458501.2	+	14	1527	c.1527G>A	c.(1525-1527)gtG>gtA	p.V509V	HGSNAT_ENST00000379644.4_Silent_p.V481V|HGSNAT_ENST00000521576.1_Silent_p.V198V|HGSNAT_ENST00000297798.7_Silent_p.V213V			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	509			V -> L (does not have any clinical significance; no loss of enzymatic activity).		lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ACTCCATCGTGATGGCCTTTT	0.403													24	62					0	0	0	0	A	43048965	G	A	43048965	2	1	270	1	0	0	0	0	0	0	0	1	7138	1277	45	2		2	HGSNAT	8	43048965	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	355791	43048965	103315057	280	48268											
KIAA1429	25962	broad.mit.edu	37	chr8	95508622	95508622	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttgctttgtagaagctgTtttaactctgcagcattaat	9	18	7	7	0	2	1	0	0	2	1	2	1	2	1	0	0	5	6	0	0	4	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:95508622T>C	ENST00000297591.5	-	18	4392	c.4317A>G	c.(4315-4317)aaA>aaG	p.K1439K	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1439					mRNA processing|RNA splicing	nucleus		p.K1439fs*18(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTAGAAGCTGTTTTAACTCTG	0.393													17	35					0	0	0	0	C	95508622	T	C	95508622	2	2	270	1	0	0	0	0	0	0	0	1	8282	1722	60	5		5	KIAA1429	8	95508622	Silent	SNP	T	TCGA-CV-6961-01A-21D-1912-08	52459657	95508622	50855400	281	48269											
TP53INP1	94241	broad.mit.edu	37	chr8	95942725	95942725	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattagtaattgtactgacgCgggcagggctgatgaacaac	12	10	12	7	2	0	3	0	3	0	0	0	3	0	3	0	2	3	4	0	2	6	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:95942725C>T	ENST00000342697.4	-	4	1112	c.705G>A	c.(703-705)ccG>ccA	p.P235P	TP53INP1_ENST00000378776.4_Silent_p.P180P|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_3'UTR	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	235					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TGTACTGACGCGGGCAGGGCT	0.438													53	115					0	0	0	0	T	95942725	C	T	95942725	2	4	270	1	0	0	0	0	0	0	0	1	16483	755	27	1		1	TP53INP1	8	95942725	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	434103	95942725	50421297	282	48270											
TSPYL5	85453	broad.mit.edu	37	chr8	98289207	98289207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttgattttgtagcccaatCtggcaaggccgagctcttcc	8	12	9	12	1	2	1	0	1	2	0	3	2	3	1	3	2	2	3	3	2	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:98289207C>G	ENST00000322128.3	-	1	969	c.866G>C	c.(865-867)aGa>aCa	p.R289T		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	289					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GTAGCCCAATCTGGCAAGGCC	0.473													27	69					0	0	0	0	G	98289207	C	G	98289207	3	3	270	1	0	0	0	0	1	0	0	0	16757	913	32	2	391	2	TSPYL5	8	98289207	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2346482	98289207	48074815	283	48271											
OSR2	116039	broad.mit.edu	37	chr8	99963753	99963753	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcacatctgaacaggaatctCcacacaaatgtcccacatgt	14	9	5	13	0	3	1	1	1	2	0	5	2	4	2	2	1	1	0	2	1	3	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:99963753C>G	ENST00000297565.4	+	4	1259	c.763C>G	c.(763-765)Cca>Gca	p.P255A	OSR2_ENST00000457907.2_Missense_Mutation_p.P376A|OSR2_ENST00000522510.1_Missense_Mutation_p.P255A|OSR2_ENST00000435298.2_Intron	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	255					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			ACAGGAATCTCCACACAAATG	0.428													3	7					0	0	0	0	G	99963753	C	G	99963753	3	3	270	1	0	0	0	0	1	0	0	0	11365	855	30	2	773	2	OSR2	8	99963753	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1674546	99963753	46400269	284	48272											
VPS13B	157680	broad.mit.edu	37	chr8	100866028	100866028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatccaacaaagagttggaaGaatacaaggaaaaatgtttt	19	10	8	4	0	0	2	0	0	0	2	1	4	1	4	1	2	2	2	1	2	9	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:100866028G>A	ENST00000358544.2	+	56	10597	c.10486G>A	c.(10486-10488)Gaa>Aaa	p.E3496K	VPS13B_ENST00000357162.2_Missense_Mutation_p.E3471K|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3496					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGAGTTGGAAGAATACAAGGA	0.383													23	63					0	0	0	0	A	100866028	G	A	100866028	3	1	270	1	0	0	0	0	1	0	0	0	17286	943	33	2	10898	2	VPS13B	8	100866028	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	902275	100866028	45497994	285	48273											
FAM91A1	157769	broad.mit.edu	37	chr8	124810476	124810476	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcagcagctgcacccctCaggtaaagacctacttggaa	11	8	9	13	0	2	1	2	0	0	1	2	2	2	2	3	2	4	4	3	2	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:124810476C>T	ENST00000334705.7	+	16	1804	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*	FAM91A1_ENST00000521166.1_Nonsense_Mutation_p.Q520*	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	520										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CTGCACCCCTCAGGTAAAGAC	0.453													17	52					0	0	0	0	T	124810476	C	T	124810476	4	4	270	1	0	0	0	0	0	1	0	0	5696	827	29	2	1620	2	FAM91A1	8	124810476	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	23944448	124810476	21553546	286	48274											
ZNF572	137209	broad.mit.edu	37	chr8	125989717	125989717	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcccatctcattagacatCagagaacacatacaggagaa	16	7	7	11	0	2	3	2	0	1	3	4	5	3	3	1	1	2	1	1	1	4	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:125989717C>T	ENST00000319286.5	+	3	1361	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATTAGACATCAGAGAACACA	0.423										HNSCC(60;0.17)			10	56					0	0	0	0	T	125989717	C	T	125989717	4	4	270	1	0	0	0	0	0	1	0	0	18099	827	29	2	1213	2	ZNF572	8	125989717	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1179241	125989717	20374305	287	48275											
FAM135B	51059	broad.mit.edu	37	chr8	139164359	139164359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccatcttgctgcttggtgtCcgcatcttcagcagcctcct	4	14	8	15	1	3	0	1	0	2	0	6	0	6	0	4	1	4	4	4	1	0	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:139164359C>T	ENST00000395297.1	-	13	2529	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	787								p.D787Y(2)|p.D787N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGCTTGGTGTCCGCATCTTCA	0.522										HNSCC(54;0.14)			8	55					0	0	0	0	T	139164359	C	T	139164359	3	4	270	1	0	0	0	0	1	0	0	0	5490	855	30	2	1893	2	FAM135B	8	139164359	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	13174642	139164359	7199663	288	48276											
FAM135B	51059	broad.mit.edu	37	chr8	139164976	139164976	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaatccatacttatctctaGagctcctactctcatgctga	10	14	4	13	0	2	2	1	1	2	1	6	2	4	2	2	0	4	2	2	0	5	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:139164976G>C	ENST00000395297.1	-	13	1912	c.1742C>G	c.(1741-1743)tCt>tGt	p.S581C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	581										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTATCTCTAGAGCTCCTACT	0.478										HNSCC(54;0.14)			34	95					0	0	0	0	C	139164976	G	C	139164976	3	2	270	1	0	0	0	0	1	0	0	0	5490	942	33	2	2510	2	FAM135B	8	139164976	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	617	139164976	7199046	289	48277											
CYP11B1	1584	broad.mit.edu	37	chr8	143961152	143961152	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggggacccgggcggctctCgtgcccagtgcctgtgccct	2	8	15	16	3	1	0	0	0	1	0	2	1	1	1	4	4	3	1	4	4	0	0	rs147788769		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:143961152C>G	ENST00000292427.4	-	1	110	c.78G>C	c.(76-78)acG>acC	p.T26T	CYP11B1_ENST00000517471.1_Silent_p.T26T|CYP11B1_ENST00000377675.3_Silent_p.T26T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	26					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGCGGCTCTCGTGCCCAGTG	0.652									Familial Hyperaldosteronism type I				20	77					0	0	0	0	G	143961152	C	G	143961152	2	3	270	1	0	0	0	0	0	0	0	1	4177	871	31	3		3	CYP11B1	8	143961152	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	4796176	143961152	2402870	290	48278											
EPPK1	83481	broad.mit.edu	37	chr8	144943311	144943311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggggcaggtgcacccCgtggacagggtccaccacac	7	4	14	16	2	0	0	0	0	0	0	1	1	1	1	5	5	1	2	5	5	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:144943311C>T	ENST00000525985.1	-	2	4182	c.4111G>A	c.(4111-4113)Ggg>Agg	p.G1371R				P58107	EPIPL_HUMAN	epiplakin 1	1371						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGTGCACCCCGTGGACAGGG	0.637													8	31					0	0	0	0	T	144943311	C	T	144943311	3	4	270	1	0	0	0	0	1	0	0	0	5228	652	23	1	3155	1	EPPK1	8	144943311	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	982159	144943311	1420711	291	48279											
PLEC	5339	broad.mit.edu	37	chr8	144991749	144991749	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtcgtccgaggggtcggtCaggatctcgttcatctcctc	4	12	13	12	4	4	0	2	0	2	0	10	2	5	1	2	4	0	1	2	4	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:144991749C>T	ENST00000322810.4	-	32	12820	c.12651G>A	c.(12649-12651)ctG>ctA	p.L4217L	PLEC_ENST00000354958.2_Silent_p.L4058L|PLEC_ENST00000356346.3_Silent_p.L4066L|PLEC_ENST00000357649.2_Silent_p.L4084L|PLEC_ENST00000354589.3_Silent_p.L4080L|PLEC_ENST00000527096.1_Silent_p.L4103L|PLEC_ENST00000398774.2_Silent_p.L4048L|PLEC_ENST00000345136.3_Silent_p.L4080L|PLEC_ENST00000436759.2_Silent_p.L4107L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4217	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGGGTCGGTCAGGATCTCGT	0.617													12	45					0	0	0	0	T	144991749	C	T	144991749	2	4	270	1	0	0	0	0	0	0	0	1	12124	813	29	2		2	PLEC	8	144991749	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	48438	144991749	1372273	292	48280											
PLEC	5339	broad.mit.edu	37	chr8	144998102	144998102	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttccgctgccgtgcggcctCctcctcggccgccaggctct	1	9	11	20	5	1	0	0	0	1	0	5	0	4	0	7	3	2	2	7	3	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:144998102C>G	ENST00000322810.4	-	31	6575	c.6406G>C	c.(6406-6408)Gag>Cag	p.E2136Q	PLEC_ENST00000354958.2_Missense_Mutation_p.E1977Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1985Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2003Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1999Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2022Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E1967Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1999Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2026Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2136	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTGCGGCCTCCTCCTCGGCC	0.746													3	21					0	0	0	0	G	144998102	C	G	144998102	3	3	270	1	0	0	0	0	1	0	0	0	12124	864	30	2	7656	2	PLEC	8	144998102	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	6353	144998102	1365920	293	48281											
PLEC	5339	broad.mit.edu	37	chr8	145007122	145007122	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccaggccagcaggtcctGcaggtagcgcagagtggagt	9	5	15	12	1	0	1	0	0	0	1	1	2	1	2	3	4	3	4	3	4	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:145007122G>A	ENST00000322810.4	-	14	2156	c.1987C>T	c.(1987-1989)Cag>Tag	p.Q663*	PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q504*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q512*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q530*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q526*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q549*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q494*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q526*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q553*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	663	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCAGGTCCTGCAGGTAGCGC	0.697													6	29					0	0	0	0	A	145007122	G	A	145007122	4	1	270	1	0	0	0	0	0	1	0	0	12124	1328	46	4	12143	4	PLEC	8	145007122	Nonsense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	9020	145007122	1356900	294	48282											
ARHGAP39	80728	broad.mit.edu	37	chr8	145771162	145771162	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcggctctgccggctgctCtcgaactgggcacaggcagc	5	7	14	15	3	2	0	0	0	2	0	3	1	2	0	1	4	5	5	1	4	1	0	rs149131924		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:145771162C>G	ENST00000276826.5	-	5	2193	c.1992G>C	c.(1990-1992)gaG>gaC	p.E664D	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E664D|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E664D			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	664					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCCGGCTGCTCTCGAACTGGG	0.677													6	20					0	0	0	0	G	145771162	C	G	145771162	3	3	270	1	0	0	0	0	1	0	0	0	886	912	32	2	1380	2	ARHGAP39	8	145771162	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	764040	145771162	592860	295	48283											
FOXD4	2298	broad.mit.edu	37	chr9	117879	117879	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgaactcggtgccaaactCtgaggggtcgctcgggccgc	6	7	14	14	4	1	2	0	2	1	0	4	2	1	2	3	4	3	1	3	4	2	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:117879C>G	ENST00000382500.2	-	1	538	c.241G>C	c.(241-243)Gag>Cag	p.E81Q		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	81					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GTGCCAAACTCTGAGGGGTCG	0.711													14	246					0	0	0	0	G	117879	C	G	117879	3	3	270	1	0	0	0	0	1	0	0	0	6044	922	32	2	1082	2	FOXD4	9	117879	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08		117879	141095552	296	48284											
PTPRD	5789	broad.mit.edu	37	chr9	8524994	8524994	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggcaacacactcatattTtccttggtcagactcttcac	9	13	7	12	0	4	1	3	0	1	1	5	1	5	1	1	3	1	1	1	3	2	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:8524994T>C	ENST00000381196.4	-	15	1153	c.610A>G	c.(610-612)Aaa>Gaa	p.K204E	PTPRD_ENST00000540109.1_Missense_Mutation_p.K204E|PTPRD_ENST00000360074.4_Missense_Mutation_p.K195E|PTPRD_ENST00000358503.5_Missense_Mutation_p.K195E|PTPRD_ENST00000537002.1_Missense_Mutation_p.K201E|PTPRD_ENST00000486161.1_Missense_Mutation_p.K204E|PTPRD_ENST00000356435.5_Missense_Mutation_p.K204E|PTPRD_ENST00000355233.5_Missense_Mutation_p.K204E|PTPRD_ENST00000397606.3_Missense_Mutation_p.K198E|PTPRD_ENST00000397611.3_Missense_Mutation_p.K201E|PTPRD_ENST00000397617.3_Missense_Mutation_p.K198E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	204	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTCATATTTTCCTTGGTCA	0.458										TSP Lung(15;0.13)			49	135					0	0	0	0	C	8524994	T	C	8524994	3	2	270	1	0	0	0	0	1	0	0	0	12881	1850	64	5	5312	5	PTPRD	9	8524994	Missense_Mutation	SNP	T	TCGA-CV-6961-01A-21D-1912-08	8407115	8524994	132688437	297	48285											
TOPORS	10210	broad.mit.edu	37	chr9	32542604	32542604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatctctttttgtctcttCtccctctaggtctgctactt	3	21	5	12	0	5	1	0	1	5	0	8	1	5	1	1	1	2	1	1	1	2	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:32542604C>T	ENST00000360538.2	-	3	2035	c.1919G>A	c.(1918-1920)aGa>aAa	p.R640K	TOPORS_ENST00000379858.1_Missense_Mutation_p.R575K	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	640	Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TTTGTCTCTTCTCCCTCTAGG	0.423													80	236					0	0	0	0	T	32542604	C	T	32542604	3	4	270	1	0	0	0	0	1	0	0	0	16465	913	32	2	1222	2	TOPORS	9	32542604	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	24017610	32542604	108670827	298	48286											
PRSS3	5646	broad.mit.edu	37	chr9	33796723	33796723	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccctaccaggtgtccctGaattctggctcccacttctg	5	12	7	17	0	2	1	0	1	2	0	5	1	5	1	5	2	1	1	5	2	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:33796723G>A	ENST00000361005.5	+	2	294	c.294G>A	c.(292-294)ctG>ctA	p.L98L	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Silent_p.L34L|PRSS3_ENST00000379405.3_Silent_p.L41L|PRSS3_ENST00000342836.4_Silent_p.L55L	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	98	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AGGTGTCCCTGAATTCTGGCT	0.547													7	178					0	0	0	0	A	33796723	G	A	33796723	2	1	270	1	0	0	0	0	0	0	0	1	12701	1277	45	2		2	PRSS3	9	33796723	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1254119	33796723	107416708	299	48287											
GBA2	57704	broad.mit.edu	37	chr9	35737182	35737182	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggctcactctgggctcaggTttgccatggcttcctttggt	3	14	12	12	1	3	0	2	0	1	0	4	0	4	0	2	5	1	4	2	5	0	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:35737182T>A	ENST00000378103.3	-	17	3291	c.2768A>T	c.(2767-2769)aAc>aTc	p.N923I	GBA2_ENST00000378088.1_3'UTR|GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.N929I	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	923					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGCTCAGGTTTGCCATGGC	0.572													10	89					0	0	0	0	A	35737182	T	A	35737182	3	1	270	1	0	0	0	0	1	0	0	0	6316	1725	60	5	19	5	GBA2	9	35737182	Missense_Mutation	SNP	T	TCGA-CV-6961-01A-21D-1912-08	1940459	35737182	105476249	300	48288											
PRUNE2	158471	broad.mit.edu	37	chr9	79244121	79244121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttacttgatgatgctctCtggaatgtggatgcaatcca	10	13	10	8	0	1	2	0	2	1	0	3	5	2	4	1	2	3	2	1	2	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:79244121C>T	ENST00000428286.1	-	16	9262	c.8062G>A	c.(8062-8064)Gag>Aag	p.E2688K	PRUNE2_ENST00000223609.6_Missense_Mutation_p.E311K|PRUNE2_ENST00000376718.3_Missense_Mutation_p.E3046K|PRUNE2_ENST00000443509.2_Missense_Mutation_p.E295K|PRUNE2_ENST00000466266.2_Intron			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	3046					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGATGCTCTCTGGAATGTGG	0.388													4	14					0	0	0	0	T	79244121	C	T	79244121	3	4	270	1	0	0	0	0	1	0	0	0	12720	922	32	2	146	2	PRUNE2	9	79244121	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	43506939	79244121	61969310	301	48289											
UBQLN1	29979	broad.mit.edu	37	chr9	86276731	86276731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggagcccagtaacctttCaatagctgcattgatatcac	11	11	8	11	0	2	1	2	1	0	0	2	2	2	2	2	1	4	3	2	1	4	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:86276731C>T	ENST00000376395.4	-	11	2264	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	UBQLN1_ENST00000257468.7_Missense_Mutation_p.E553K	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	581	UBA.				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						AGTAACCTTTCAATAGCTGCA	0.383													24	69					0	0	0	0	T	86276731	C	T	86276731	3	4	270	1	0	0	0	0	1	0	0	0	16992	835	29	2	32	2	UBQLN1	9	86276731	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	7032610	86276731	54936700	302	48290											
KIF27	55582	broad.mit.edu	37	chr9	86518439	86518439	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctctgttggcatatttgaGagaatttaaggactcatcaa	12	14	9	6	0	3	2	2	1	1	1	3	4	3	3	0	2	1	3	0	2	4	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:86518439G>C	ENST00000297814.2	-	4	1137	c.994C>G	c.(994-996)Ctc>Gtc	p.L332V	KIF27_ENST00000334204.2_Missense_Mutation_p.L332V|KIF27_ENST00000413982.1_Missense_Mutation_p.L332V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	332					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GCATATTTGAGAGAATTTAAG	0.433													22	80					0	0	0	0	C	86518439	G	C	86518439	3	2	270	1	0	0	0	0	1	0	0	0	8347	942	33	2	3271	2	KIF27	9	86518439	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	241708	86518439	54694992	303	48291											
BICD2	23299	broad.mit.edu	37	chr9	95481630	95481630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtacttgcaggccaagatctCaggcccgttgatgtccacct	8	10	10	13	1	1	2	1	1	1	1	3	2	2	2	4	2	2	3	4	2	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:95481630C>G	ENST00000356884.6	-	5	1364	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	BICD2_ENST00000375512.3_Missense_Mutation_p.E433Q	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	433					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCCAAGATCTCAGGCCCGTTG	0.637													6	56					0	0	0	0	G	95481630	C	G	95481630	3	3	270	1	0	0	0	0	1	0	0	0	1434	835	29	2	1292	2	BICD2	9	95481630	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	8963191	95481630	45731801	304	48292											
SVEP1	79987	broad.mit.edu	37	chr9	113169862	113169862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtaccatacagaaagtttGatgaatgtgtagcaggagac	14	10	12	5	0	0	4	0	2	0	2	0	5	0	4	1	2	3	4	1	2	5	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:113169862G>A	ENST00000401783.2	-	38	8354	c.8018C>T	c.(8017-8019)tCa>tTa	p.S2673L	SVEP1_ENST00000374469.1_Missense_Mutation_p.S2650L|SVEP1_ENST00000297826.5_Missense_Mutation_p.S599L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2673	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGAAAGTTTGATGAATGTGT	0.443													55	167					0	0	0	0	A	113169862	G	A	113169862	3	1	270	1	0	0	0	0	1	0	0	0	15510	1294	45	2	2741	2	SVEP1	9	113169862	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	17688232	113169862	28043569	305	48293											
WDR31	114987	broad.mit.edu	37	chr9	116083793	116083793	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgctcagtaagcccacctGagggttttatcttcagaggt	8	12	11	10	0	3	2	2	1	1	1	3	2	3	2	2	2	2	4	2	2	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:116083793G>A	ENST00000374193.4	-	8	882	c.636C>T	c.(634-636)ctC>ctT	p.L212L	WDR31_ENST00000341761.4_Silent_p.L211L|WDR31_ENST00000374195.3_Silent_p.L87L|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	212										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AAGCCCACCTGAGGGTTTTAT	0.478													13	26					0	0	0	0	A	116083793	G	A	116083793	2	1	270	1	0	0	0	0	0	0	0	1	17382	1277	45	2		2	WDR31	9	116083793	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2913931	116083793	25129638	306	48294											
HDHD3	81932	broad.mit.edu	37	chr9	116136231	116136231	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctagccgtcggtcaaagttgGagatcactgccagtctcaga	10	9	11	11	2	3	2	3	0	1	2	5	3	3	2	2	2	2	1	2	2	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:116136231G>C	ENST00000238379.5	-	2	1301	c.404C>G	c.(403-405)tCc>tGc	p.S135C	HDHD3_ENST00000374180.3_Missense_Mutation_p.S135C|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	135							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GTCAAAGTTGGAGATCACTGC	0.622													43	137					0	0	0	0	C	116136231	G	C	116136231	3	2	270	1	0	0	0	0	1	0	0	0	7074	1174	41	2	355	2	HDHD3	9	116136231	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	52438	116136231	25077200	307	48295											
OR1L3	26735	broad.mit.edu	37	chr9	125438072	125438072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatctcttatctaagaattCtcatcgctgttctcaagatt	10	17	4	10	1	5	2	3	0	4	2	9	2	5	2	0	0	0	2	0	0	4	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:125438072C>T	ENST00000304820.2	+	1	758	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TCTAAGAATTCTCATCGCTGT	0.468													23	72					0	0	0	0	T	125438072	C	T	125438072	3	4	270	1	0	0	0	0	1	0	0	0	11035	913	32	2	666	2	OR1L3	9	125438072	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	9301841	125438072	15775359	308	48296											
GAPVD1	26130	broad.mit.edu	37	chr9	128086134	128086134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctagaaggagagtctgtgtCagaacttggagcaggacctt	11	9	13	8	0	2	3	1	0	1	3	2	6	2	5	2	3	2	1	2	3	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:128086134C>T	ENST00000470056.1	+	9	1950	c.1790C>T	c.(1789-1791)tCa>tTa	p.S597L	GAPVD1_ENST00000312123.9_Missense_Mutation_p.S576L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.S597L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.S597L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.S597L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.S576L|GAPVD1_ENST00000495955.1_Missense_Mutation_p.S597L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.S597L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	597					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAGTCTGTGTCAGAACTTGGA	0.428													11	53					0	0	0	0	T	128086134	C	T	128086134	3	4	270	1	0	0	0	0	1	0	0	0	6288	838	29	2	1820	2	GAPVD1	9	128086134	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2648062	128086134	13127297	309	48297											
FUBP3	8939	broad.mit.edu	37	chr9	133507625	133507625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgacccagggctggggcagCacctaccaggcgtggcagca	8	4	15	14	1	0	1	0	1	0	0	0	1	0	1	3	5	3	5	3	5	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:133507625C>A	ENST00000319725.9	+	16	1545	c.1470C>A	c.(1468-1470)agC>agA	p.S490R		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	490					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GCTGGGGCAGCACCTACCAGG	0.622													12	32					4.3838e-07	4.60906e-07	1	0	A	133507625	C	A	133507625	3	1	270	1	0	0	0	0	1	0	0	0	6141	709	25	4	1532	4	FUBP3	9	133507625	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	5421491	133507625	7705806	310	48298											
RALGDS	5900	broad.mit.edu	37	chr9	135982483	135982483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcataccctggccacctCgatccagtgctccaccaccc	7	7	7	20	1	0	0	0	0	0	0	3	1	2	0	7	2	2	2	7	2	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:135982483C>T	ENST00000393160.3	-	7	1590	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	RALGDS_ENST00000372047.3_Missense_Mutation_p.E456K|RALGDS_ENST00000372062.3_Missense_Mutation_p.E439K|RALGDS_ENST00000372050.3_Missense_Mutation_p.E468K|RALGDS_ENST00000542690.1_Missense_Mutation_p.E539K|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393157.3_Missense_Mutation_p.E467K	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	468	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|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)		CTGGCCACCTCGATCCAGTGC	0.622			T	CIITA	"PMBL, Hodgkin Lymphona, "								12	57					0	0	0	0	T	135982483	C	T	135982483	3	4	270	1	0	0	0	0	1	0	0	0	13098	893	31	1	1390	1	RALGDS	9	135982483	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2474858	135982483	5230948	311	48299											
RALGDS	5900	broad.mit.edu	37	chr9	135985044	135985044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctggggtccaccatcctCgtcggaataggggaggatgc	7	8	15	11	2	0	0	0	0	0	0	5	3	3	3	4	6	1	0	4	6	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:135985044C>T	ENST00000393160.3	-	4	741	c.388G>A	c.(388-390)Gag>Aag	p.E130K	RALGDS_ENST00000372047.3_Missense_Mutation_p.E173K|RALGDS_ENST00000372062.3_Missense_Mutation_p.E156K|RALGDS_ENST00000372050.3_Missense_Mutation_p.E185K|RALGDS_ENST00000542690.1_Missense_Mutation_p.E256K|RALGDS_ENST00000393157.3_Missense_Mutation_p.E184K	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	185	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|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)		CCACCATCCTCGTCGGAATAG	0.557			T	CIITA	"PMBL, Hodgkin Lymphona, "								18	61					0	0	0	0	T	135985044	C	T	135985044	3	4	270	1	0	0	0	0	1	0	0	0	13098	893	31	1	2251	1	RALGDS	9	135985044	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2561	135985044	5228387	312	48300											
SARDH	1757	broad.mit.edu	37	chr9	136596561	136596561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggtacagagtcttggtctCtgccgggctcagcacatggg	6	9	15	11	2	3	1	1	0	2	1	4	1	3	1	1	4	3	3	1	4	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:136596561C>G	ENST00000371872.4	-	4	813	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	SARDH_ENST00000422262.2_Missense_Mutation_p.E18Q|SARDH_ENST00000439388.1_Missense_Mutation_p.E186Q|SARDH_ENST00000298628.5_Missense_Mutation_p.E186Q|SARDH_ENST00000371867.1_Missense_Mutation_p.E97Q	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	186					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCTTGGTCTCTGCCGGGCTC	0.627													7	71					0	0	0	0	G	136596561	C	G	136596561	3	3	270	1	0	0	0	0	1	0	0	0	13927	922	32	2	2272	2	SARDH	9	136596561	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	611517	136596561	4616870	313	48301											
PMPCA	23203	broad.mit.edu	37	chr9	139309033	139309033	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatgtatgctgtgtctgctGatagcaaaggcttggacacg	9	11	12	9	1	1	1	0	1	1	0	1	2	1	2	1	2	3	5	1	2	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139309033G>C	ENST00000371717.3	+	5	475	c.466G>C	c.(466-468)Gat>Cat	p.D156H	PMPCA_ENST00000371720.1_Intron|PMPCA_ENST00000399219.3_Intron	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	156					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGTGTCTGCTGATAGCAAAGG	0.572													6	94					0	0	0	0	C	139309033	G	C	139309033	3	2	270	1	0	0	0	0	1	0	0	0	12212	1290	45	2	484	2	PMPCA	9	139309033	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2712472	139309033	1904398	314	48302											
MAMDC4	158056	broad.mit.edu	37	chr9	139749723	139749723	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatcctcctggccgggcaGacaggcccggggggcgtcgt	5	5	17	14	4	0	2	0	0	0	2	3	2	2	2	4	6	0	1	4	6	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139749723G>A	ENST00000445819.1	+	11	1265	c.1215G>A	c.(1213-1215)caG>caA	p.Q405Q	MAMDC4_ENST00000317446.2_Silent_p.Q405Q|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	405	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGGCCGGGCAGACAGGCCCGG	0.672													21	22					0	0	0	0	A	139749723	G	A	139749723	2	1	270	1	0	0	0	0	0	0	0	1	9273	933	33	2		2	MAMDC4	9	139749723	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	440690	139749723	1463708	315	48303											
ABCA2	20	broad.mit.edu	37	chr9	139909920	139909920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcgtgaggcggtacccgtCgccataggtgcccttgagga	7	7	15	12	4	0	2	0	2	0	0	1	3	0	3	3	4	3	1	3	4	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139909920C>T	ENST00000265662.5	-	24	3790	c.3643G>A	c.(3643-3645)Gac>Aac	p.D1215N	ABCA2_ENST00000341511.6_Missense_Mutation_p.D1215N|ABCA2_ENST00000371605.3_Missense_Mutation_p.D1214N			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1214	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGTACCCGTCGCCATAGGTG	0.662													3	10					0	0	0	0	T	139909920	C	T	139909920	3	4	270	1	0	0	0	0	1	0	0	0	32	884	31	1	3771	1	ABCA2	9	139909920	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	160197	139909920	1303511	316	48304			1	71		4	4	3315	C		5.205872e-05
ABCA2	20	broad.mit.edu	37	chr9	139910481	139910481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgagtagaaccagaggtgttCctccaccgtgagccggtcaa	10	8	12	11	2	1	4	1	2	0	2	3	4	3	4	5	2	2	2	5	2	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139910481C>T	ENST00000265662.5	-	22	3397	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	ABCA2_ENST00000341511.6_Missense_Mutation_p.E1084K|ABCA2_ENST00000371605.3_Missense_Mutation_p.E1083K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1083	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAGAGGTGTTCCTCCACCGTG	0.622													23	35					0	0	0	0	T	139910481	C	T	139910481	3	4	270	1	0	0	0	0	1	0	0	0	32	864	30	2	4172	2	ABCA2	9	139910481	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	561	139910481	1302950	317	48305			1	71		4	4	3315	C		5.205872e-05
ABCA2	20	broad.mit.edu	37	chr9	139910547	139910547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccaggttcttgcggatctCatccatctccgtgcggatgt	5	12	11	13	3	3	0	1	0	3	0	6	2	4	2	3	3	2	1	3	3	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139910547C>T	ENST00000265662.5	-	22	3331	c.3184G>A	c.(3184-3186)Gag>Aag	p.E1062K	ABCA2_ENST00000341511.6_Missense_Mutation_p.E1062K|ABCA2_ENST00000371605.3_Missense_Mutation_p.E1061K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1061	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTGCGGATCTCATCCATCTCC	0.612													31	63					0	0	0	0	T	139910547	C	T	139910547	3	4	270	1	0	0	0	0	1	0	0	0	32	835	29	2	4238	2	ABCA2	9	139910547	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	66	139910547	1302884	318	48306			1	71		4	4	3315	C		5.205872e-05
ABCA2	20	broad.mit.edu	37	chr9	139913234	139913234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagttgacaatgctctcctCgtcgtggaagcccttgaaga	9	11	11	10	2	1	3	0	2	1	1	4	4	1	4	2	1	2	3	2	1	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139913234C>T	ENST00000265662.5	-	13	1903	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	ABCA2_ENST00000341511.6_Missense_Mutation_p.E586K|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Missense_Mutation_p.E585K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	585					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ATGCTCTCCTCGTCGTGGAAG	0.652													17	51					0	0	0	0	T	139913234	C	T	139913234	3	4	270	1	0	0	0	0	1	0	0	0	32	893	31	1	5702	1	ABCA2	9	139913234	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2687	139913234	1300197	319	48307			1	71		4	4	3315	C		5.205872e-05
SVIL	6840	broad.mit.edu	37	chr10	29821937	29821937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagccagtagggttttCttgctttgctcgagagcttc	7	14	10	10	1	1	1	0	0	1	1	4	2	2	1	2	1	4	5	2	1	2	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:29821937C>A	ENST00000375398.2	-	10	1808	c.1359G>T	c.(1357-1359)aaG>aaT	p.K453N	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.K453N			O95425	SVIL_HUMAN	supervillin	453					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTAGGGTTTTCTTGCTTTGCT	0.483													25	38					0.00106085	0.00109233	1	0	A	29821937	C	A	29821937	3	1	270	1	0	0	0	0	1	0	0	0	15511	912	32	2	5409	2	SVIL	10	29821937	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08		29821937	105712810	320	48308											
DNA2	1763	broad.mit.edu	37	chr10	70231756	70231756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacccgcagatgtcccaaatGacctgcgccaggccgcccct	9	5	9	18	3	0	2	0	1	0	1	1	2	1	2	7	1	2	1	7	1	2	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:70231756G>A	ENST00000399180.2	-	1	123	c.124C>T	c.(124-126)Cat>Tat	p.H42Y	DNA2_ENST00000399179.2_5'UTR			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	0					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGTCCCAAATGACCTGCGCCA	0.657													17	20					0	0	0	0	A	70231756	G	A	70231756	3	1	270	1	0	0	0	0	1	0	0	0	4633	1290	45	2	3400	2	DNA2	10	70231756	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	40409819	70231756	65302991	321	48309											
ADAMTS14	140766	broad.mit.edu	37	chr10	72492036	72492036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacccgtcactggcatgtgtCaccccctgaggagctgtgcc	6	8	11	16	1	2	1	2	1	0	0	2	2	2	2	4	2	2	2	4	2	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:72492036C>T	ENST00000373208.1	+	7	1138	c.1138C>T	c.(1138-1140)Cac>Tac	p.H380Y	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.H377Y	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	377	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGGCATGTGTCACCCCCTGAG	0.597													3	23					0	0	0	0	T	72492036	C	T	72492036	3	4	270	1	0	0	0	0	1	0	0	0	259	826	29	2	1164	2	ADAMTS14	10	72492036	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2260280	72492036	63042711	322	48310											
NRAP	4892	broad.mit.edu	37	chr10	115368262	115368262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatgagtggggatgctgccGatatttactctgaattcaca	11	12	11	7	1	2	2	1	2	1	0	2	5	2	3	1	2	3	1	1	2	4	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:115368262G>A	ENST00000369358.4	-	32	3881	c.3637C>T	c.(3637-3639)Cgg>Tgg	p.R1213W	NRAP_ENST00000359988.3_Missense_Mutation_p.R1205W|NRAP_ENST00000369360.3_Missense_Mutation_p.R1178W|NRAP_ENST00000360478.3_Missense_Mutation_p.R1170W			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1205						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGATGCTGCCGATATTTACTC	0.438													60	116					0	0	0	0	A	115368262	G	A	115368262	3	1	270	1	0	0	0	0	1	0	0	0	10709	1057	37	1	1623	1	NRAP	10	115368262	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	42876226	115368262	20166485	323	48311											
DPYSL4	10570	broad.mit.edu	37	chr10	134012379	134012379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctgaggcggtgtaccgaGctgtcaccatcgccaagcag	9	6	14	12	3	1	1	1	1	0	0	2	2	1	1	3	3	3	4	3	3	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:134012379G>A	ENST00000338492.4	+	8	879	c.715G>A	c.(715-717)Gct>Act	p.A239T	DPYSL4_ENST00000368629.1_Missense_Mutation_p.A139T|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A139T	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	239					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGTGTACCGAGCTGTCACCAT	0.657													4	41					0	0	0	0	A	134012379	G	A	134012379	3	1	270	1	0	0	0	0	1	0	0	0	4785	971	34	4	745	4	DPYSL4	10	134012379	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	18644117	134012379	1522368	324	48312											
SCUBE2	57758	broad.mit.edu	37	chr11	9087482	9087482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttatccccatccaccactGatgtggtgttgctctctgtc	5	15	8	13	0	1	1	0	1	1	0	5	1	3	1	4	1	1	3	4	1	1	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:9087482G>A	ENST00000457346.2	-	7	880	c.806C>T	c.(805-807)tCa>tTa	p.S269L	SCUBE2_ENST00000520467.1_Missense_Mutation_p.S269L|SCUBE2_ENST00000450649.2_Missense_Mutation_p.S269L|SCUBE2_ENST00000309263.3_Missense_Mutation_p.S269L			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	269						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATCCACCACTGATGTGGTGTT	0.522													14	43					0	0	0	0	A	9087482	G	A	9087482	3	1	270	1	0	0	0	0	1	0	0	0	14032	1294	45	2	2348	2	SCUBE2	11	9087482	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08		9087482	125919034	325	48313											
EIF4G2	1982	broad.mit.edu	37	chr11	10828424	10828424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccctacttcctcctccgcccGaagaagcactatttaaaaga	12	9	5	15	2	0	2	0	0	0	2	3	3	3	2	5	0	2	1	5	0	6	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:10828424G>C	ENST00000526148.1	-	3	560	c.50C>G	c.(49-51)tCg>tGg	p.S17W	EIF4G2_ENST00000396525.2_Missense_Mutation_p.S17W|EIF4G2_ENST00000525681.1_Missense_Mutation_p.S17W|EIF4G2_ENST00000339995.5_Missense_Mutation_p.S17W|EIF4G2_ENST00000525995.1_5'UTR	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	17					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCCTCCGCCCGAAGAAGCACT	0.388													27	94					0	0	0	0	C	10828424	G	C	10828424	3	2	270	1	0	0	0	0	1	0	0	0	5075	1059	37	3	2753	3	EIF4G2	11	10828424	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1740942	10828424	124178092	326	48314											
SPON1	10418	broad.mit.edu	37	chr11	14280917	14280917	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtcccgggagaggtatgtGaagcagttcccggaggacgg	9	6	18	8	3	0	2	0	1	0	1	2	5	2	4	2	6	1	3	2	6	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:14280917G>A	ENST00000310358.7	+	0	2119							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGAGGTATGTGAAGCAGTTCC	0.652													3	13					0	0	0	0	A	14280917	G	A	14280917	1	1	270	0	1	0	0	0	0	0	0	0	15172	1277	45	2		2	SPON1	11	14280917	RNA	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3452493	14280917	120725599	327	48315											
COPB1	1315	broad.mit.edu	37	chr11	14486569	14486569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacggcttttccacaagtttCagatcccctgaaagaaagag	13	9	9	10	1	1	4	1	1	0	3	3	5	3	4	3	1	0	2	3	1	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:14486569C>T	ENST00000249923.3	-	18	2598	c.2298G>A	c.(2296-2298)ctG>ctA	p.L766L	COPB1_ENST00000439561.2_Silent_p.L766L	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	766					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CCACAAGTTTCAGATCCCCTG	0.393													10	18					0	0	0	0	T	14486569	C	T	14486569	2	4	270	1	0	0	0	0	0	0	0	1	3758	813	29	2		2	COPB1	11	14486569	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	205652	14486569	120519947	328	48316											
COPB1	1315	broad.mit.edu	37	chr11	14507935	14507935	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgattgcagttggtgcactaGagagtgtcactaatgtccca	10	12	11	8	0	1	2	1	1	0	1	2	3	2	2	1	1	2	3	1	1	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:14507935G>C	ENST00000249923.3	-	7	1115	c.815C>G	c.(814-816)tCt>tGt	p.S272C	COPB1_ENST00000439561.2_Missense_Mutation_p.S272C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	272					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGGTGCACTAGAGAGTGTCAC	0.398													12	93					0	0	0	0	C	14507935	G	C	14507935	3	2	270	1	0	0	0	0	1	0	0	0	3758	942	33	2	2110	2	COPB1	11	14507935	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	21366	14507935	120498581	329	48317											
SAAL1	113174	broad.mit.edu	37	chr11	18105261	18105261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagacccgaatgaggctgtCaattagaggaagatctactg	14	9	11	7	1	2	4	1	1	1	3	2	6	2	5	1	2	1	1	1	2	6	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:18105261C>T	ENST00000524803.1	-	10	1109	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	SAAL1_ENST00000300013.4_Missense_Mutation_p.D353N|SAAL1_ENST00000529318.1_Missense_Mutation_p.D356N			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	354					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						ATGAGGCTGTCAATTAGAGGA	0.363													4	30					0	0	0	0	T	18105261	C	T	18105261	3	4	270	1	0	0	0	0	1	0	0	0	13886	826	29	2	376	2	SAAL1	11	18105261	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	3597326	18105261	116901255	330	48318											
CCDC34	91057	broad.mit.edu	37	chr11	27384432	27384432	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggctcgccactttggcctCtgaatcatgggcatcttcat	7	12	9	13	1	4	1	2	1	2	0	5	1	4	1	2	3	0	2	2	3	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:27384432C>G	ENST00000317945.6	-	1	349	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	CCDC34_ENST00000328697.6_Missense_Mutation_p.E104Q	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	104								p.E104K(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						ACTTTGGCCTCTGAATCATGG	0.572													27	81					0	0	0	0	G	27384432	C	G	27384432	3	3	270	1	0	0	0	0	1	0	0	0	2833	922	32	2	919	2	CCDC34	11	27384432	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	9279171	27384432	107622084	331	48319											
CAPRIN1	4076	broad.mit.edu	37	chr11	34107680	34107680	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagagccccactctttgactCcagtggctcaggcagatccc	8	8	9	16	0	2	3	1	1	1	2	4	3	4	3	4	2	1	2	4	2	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:34107680C>G	ENST00000341394.4	+	10	1225	c.1036C>G	c.(1036-1038)Cca>Gca	p.P346A	CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P265A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P346A|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P346A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P346A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	346					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CTCTTTGACTCCAGTGGCTCA	0.458													5	48					0	0	0	0	G	34107680	C	G	34107680	3	3	270	1	0	0	0	0	1	0	0	0	2660	855	30	2	1070	2	CAPRIN1	11	34107680	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	6723248	34107680	100898836	332	48320											
ALKBH3	221120	broad.mit.edu	37	chr11	43911373	43911373	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaacagaggactggcatcaGagagggtaagtagatcccag	15	5	14	7	0	1	3	1	0	0	3	2	6	2	4	1	3	1	3	1	3	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:43911373G>C	ENST00000302708.4	+	6	776	c.365G>C	c.(364-366)aGa>aCa	p.R122T	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3_ENST00000378840.4_Missense_Mutation_p.R121T	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	122					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	ACTGGCATCAGAGAGGGTAAG	0.478								Direct reversal of damage					11	31					0	0	0	0	C	43911373	G	C	43911373	3	2	270	1	0	0	0	0	1	0	0	0	528	942	33	2	383	2	ALKBH3	11	43911373	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	9803693	43911373	91095143	333	48321											
PRDM11	56981	broad.mit.edu	37	chr11	45241256	45241256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtacagcgaggactacatGaagcgcctgcacagcatgtc	11	7	12	11	2	0	1	0	1	0	0	1	3	0	2	1	2	6	3	1	2	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:45241256G>A	ENST00000263765.4	+	7	1041	c.792G>A	c.(790-792)atG>atA	p.M264I	PRDM11_ENST00000530656.1_Missense_Mutation_p.M264I|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000424263.2_Missense_Mutation_p.M230I			Q9NQV5	PRD11_HUMAN	PR domain containing 11	264	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGACTACATGAAGCGCCTGC	0.637													13	31					0	0	0	0	A	45241256	G	A	45241256	3	1	270	1	0	0	0	0	1	0	0	0	12532	1290	45	2	814	2	PRDM11	11	45241256	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1329883	45241256	89765260	334	48322											
OR4A47	403253	broad.mit.edu	37	chr11	48510865	48510866	+	Frame_Shift_Ins	INS	-	-	T																															ggccccaatgtcattgatcaINSttttttctgtgacatgtatc																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:48510865_48510866insT	ENST00000446524.1	+	1	597_598	c.521_522insT	c.(520-522)cttfs	p.L174fs		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GTCATTGATCATTTTTTCTGTG	0.465													11	172	---	---	---	---					T	48510866	-	T	48510865	7	5	270	1	0	1	1	0	0	0	0	0	11113	217	8	0	523	0	OR4A47	11	48510865	Frame_Shift_Ins	INS	-	TCGA-CV-6961-01A-21D-1912-08	3269609	48510865	86495651	335	48323											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57069957	57069957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaaggagaagtcctgactGggggatctggcaggagggcc	10	6	18	7	0	1	3	0	2	1	1	2	6	2	5	2	6	0	1	2	6	2	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:57069957G>A	ENST00000532437.1	-	6	4970	c.4659C>T	c.(4657-4659)ccC>ccT	p.P1553P	TNKS1BP1_ENST00000358252.3_Silent_p.P1553P			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1553	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGTCCTGACTGGGGGATCTGG	0.637													5	20					0	0	0	0	A	57069957	G	A	57069957	2	1	270	1	0	0	0	0	0	0	0	1	16414	1335	47	4		4	TNKS1BP1	11	57069957	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	8559092	57069957	77936559	336	48324											
FAM111A	63901	broad.mit.edu	37	chr11	58919875	58919875	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgattggaaactcattgaaaAcaatgacaccattttagaaa	18	11	6	6	0	1	4	1	3	0	1	1	5	1	5	1	1	2	0	1	1	6	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:58919875A>G	ENST00000528737.1	+	5	3552	c.734A>G	c.(733-735)aAc>aGc	p.N245S	FAM111A_ENST00000420244.1_Missense_Mutation_p.N245S|FAM111A_ENST00000531147.1_Missense_Mutation_p.N245S|FAM111A_ENST00000533703.1_Missense_Mutation_p.N245S|FAM111A_ENST00000361723.3_Missense_Mutation_p.N245S			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	245					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CTCATTGAAAACAATGACACC	0.418													15	73					0	0	0	0	G	58919875	A	G	58919875	3	3	270	1	0	0	0	0	1	0	0	0	5440	43	2	5	740	5	FAM111A	11	58919875	Missense_Mutation	SNP	A	TCGA-CV-6961-01A-21D-1912-08	1849918	58919875	76086641	337	48325											
DTX4	23220	broad.mit.edu	37	chr11	58972245	58972245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagacaccgtcatctggaatGaggtccaccacaagacagag	14	5	10	12	1	2	4	1	1	1	3	3	5	3	5	3	2	0	0	3	2	2	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:58972245G>A	ENST00000227451.3	+	9	1827	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K	DTX4_ENST00000532982.1_Missense_Mutation_p.E469K	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	575					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CATCTGGAATGAGGTCCACCA	0.562													4	18					0	0	0	0	A	58972245	G	A	58972245	3	1	270	1	0	0	0	0	1	0	0	0	4833	1291	45	2	1757	2	DTX4	11	58972245	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	52370	58972245	76034271	338	48326											
OR4D9	390199	broad.mit.edu	37	chr11	59283051	59283051	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatcttacacggtcatcttGatgatgctgaggtctcacac	10	13	8	10	1	4	3	2	3	3	0	5	3	4	3	0	2	2	1	0	2	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:59283051G>C	ENST00000329328.3	+	1	666	c.666G>C	c.(664-666)ttG>ttC	p.L222F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CGGTCATCTTGATGATGCTGA	0.498													27	156					0	0	0	0	C	59283051	G	C	59283051	3	2	270	1	0	0	0	0	1	0	0	0	11130	1281	45	2	668	2	OR4D9	11	59283051	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	310806	59283051	75723465	339	48327											
LGALS12	85329	broad.mit.edu	37	chr11	63283183	63283183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttacccccagagattctttGaggtaggtcagagccaaatg	11	11	10	9	0	2	3	1	1	1	2	2	4	2	3	3	2	2	1	3	2	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:63283183G>A	ENST00000415491.2	+	7	1293	c.679G>A	c.(679-681)Gag>Aag	p.E227K	LGALS12_ENST00000255684.5_Missense_Mutation_p.E279K|LGALS12_ENST00000425950.2_Missense_Mutation_p.E218K|LGALS12_ENST00000340246.5_Missense_Mutation_p.E289K|LGALS12_ENST00000394618.3_Missense_Mutation_p.E288K	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	288	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GAGATTCTTTGAGGTAGGTCA	0.557													11	37					0	0	0	0	A	63283183	G	A	63283183	3	1	270	1	0	0	0	0	1	0	0	0	8792	1291	45	2	895	2	LGALS12	11	63283183	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	4000132	63283183	71723333	340	48328											
C11orf84	144097	broad.mit.edu	37	chr11	63581231	63581231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgcgaggaaggggaggacGaggaggaggccatggtggtg	11	4	22	4	2	0	0	0	0	0	0	0	7	0	5	1	9	1	0	1	9	2	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:63581231G>A	ENST00000294244.4	+	1	372	c.73G>A	c.(73-75)Gag>Aag	p.E25K		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	25										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						AGGGGAGGACGAGGAGGAGGC	0.677													9	29					0	0	0	0	A	63581231	G	A	63581231	3	1	270	1	0	0	0	0	1	0	0	0	1678	1059	37	1	75	1	C11orf84	11	63581231	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	298048	63581231	71425285	341	48329											
FERMT3	83706	broad.mit.edu	37	chr11	63990903	63990903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgacgcgggagcgggcccGtggggaggagctggatgaag	7	4	22	8	5	0	1	0	1	0	0	1	6	0	5	1	6	2	1	1	6	1	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:63990903G>A	ENST00000279227.5	+	15	2038	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	FERMT3_ENST00000345728.5_Missense_Mutation_p.R644H	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	648					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GAGCGGGCCCGTGGGGAGGAG	0.612													8	42					0	0	0	0	A	63990903	G	A	63990903	3	1	270	1	0	0	0	0	1	0	0	0	5864	1145	40	1	1997	1	FERMT3	11	63990903	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	409672	63990903	71015613	342	48330											
ESRRA	2101	broad.mit.edu	37	chr11	64082296	64082296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctgaccccgcaggccctGatgggcacctcccagccgtg	5	6	12	18	2	0	2	0	2	0	0	1	2	1	2	7	2	2	2	7	2	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:64082296G>A	ENST00000405666.1	+	5	889	c.655G>A	c.(655-657)Gat>Aat	p.D219N	ESRRA_ENST00000000442.6_Missense_Mutation_p.D219N|ESRRA_ENST00000406310.1_Missense_Mutation_p.D218N			P11474	ERR1_HUMAN	estrogen-related receptor alpha	219	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCAGGCCCTGATGGGCACCT	0.587													17	50					0	0	0	0	A	64082296	G	A	64082296	3	1	270	1	0	0	0	0	1	0	0	0	5298	1290	45	2	669	2	ESRRA	11	64082296	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	91393	64082296	70924220	343	48331											
AIP	9049	broad.mit.edu	37	chr11	67254633	67254633	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcgagaaggggagattGcccagttcctctgtgacatc	9	9	12	11	1	1	3	0	1	1	2	3	5	2	3	3	2	2	1	3	2	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:67254633G>C	ENST00000279146.3	+	2	374	c.256G>C	c.(256-258)Gcc>Ccc	p.A86P		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	86	PPIase FKBP-type.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						AGGGGAGATTGCCCAGTTCCT	0.582									Familial Isolated Pituitary Adenoma				11	129					0	0	0	0	C	67254633	G	C	67254633	3	2	270	1	0	0	0	0	1	0	0	0	435	1319	46	4	262	4	AIP	11	67254633	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3172337	67254633	67751883	344	48332											
ARAP1	116985	broad.mit.edu	37	chr11	72409008	72409008	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttcgcagggcccctccggGaagacagcacggagctccga	8	5	13	15	4	1	1	0	0	1	1	4	4	3	3	4	3	2	3	4	3	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:72409008G>A	ENST00000359373.5	-	19	3536	c.2685C>T	c.(2683-2685)ttC>ttT	p.F895F	ARAP1_ENST00000334211.8_Silent_p.F650F|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393609.3_Silent_p.F895F|ARAP1_ENST00000429686.1_Silent_p.F589F|ARAP1_ENST00000393605.3_Silent_p.F655F|ARAP1_ENST00000455638.2_Silent_p.F895F|ARAP1_ENST00000426523.1_Silent_p.F650F			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	895					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCCCCTCCGGGAAGACAGCAC	0.657													3	21					0	0	0	0	A	72409008	G	A	72409008	2	1	270	1	0	0	0	0	0	0	0	1	840	1165	41	2		2	ARAP1	11	72409008	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	5154375	72409008	62597508	345	48333											
RNF169	254225	broad.mit.edu	37	chr11	74546869	74546869	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctaagtcctctcatcatCaaatcaactccacgcaacct	12	10	4	15	1	4	0	4	0	1	0	7	0	6	0	3	0	3	2	3	0	4	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:74546869C>G	ENST00000299563.4	+	6	1234	c.1221C>G	c.(1219-1221)atC>atG	p.I407M		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	407							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CTCTCATCATCAAATCAACTC	0.493													38	120					0	0	0	0	G	74546869	C	G	74546869	3	3	270	1	0	0	0	0	1	0	0	0	13545	816	29	2	1243	2	RNF169	11	74546869	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2137861	74546869	60459647	346	48334											
PRKRIR	5612	broad.mit.edu	37	chr11	76062393	76062393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagataagcatttaagagCtttgaggtgctgttctgaga	12	12	12	5	0	1	4	0	2	1	3	1	6	1	4	0	1	3	4	0	1	2	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:76062393C>T	ENST00000260045.3	-	5	1906	c.1801G>A	c.(1801-1803)Gct>Act	p.A601T		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	601					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CATTTAAGAGCTTTGAGGTGC	0.413													37	89					0	0	0	0	T	76062393	C	T	76062393	3	4	270	1	0	0	0	0	1	0	0	0	12606	797	28	4	488	4	PRKRIR	11	76062393	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1515524	76062393	58944123	347	48335											
MYO7A	4647	broad.mit.edu	37	chr11	76873901	76873901	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctccactccccagggCacagacaccaccatgttaca	10	6	6	19	0	0	1	0	0	0	1	2	1	2	1	7	1	2	2	7	1	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:76873901C>T	ENST00000409709.3	+	14	1829	c.1557C>T	c.(1555-1557)ggC>ggT	p.G519G	MYO7A_ENST00000458637.2_Silent_p.G519G|MYO7A_ENST00000409893.1_Silent_p.G519G|MYO7A_ENST00000409619.2_Silent_p.G508G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	519	Myosin head-like.		G -> D (in USH1B; the deleterious effect remains to be proven).		actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTCCCCAGGGCACAGACACCA	0.597													38	87					0	0	0	0	T	76873901	C	T	76873901	2	4	270	1	0	0	0	0	0	0	0	1	10152	697	25	4		4	MYO7A	11	76873901	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	811508	76873901	58132615	348	48336											
USP35	57558	broad.mit.edu	37	chr11	77920693	77920693	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggccttcacggacctctctCtcgccttccctcctcctgag	4	11	7	19	2	3	1	1	1	2	0	8	2	6	2	6	2	0	0	6	2	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:77920693C>G	ENST00000529308.1	+	10	2053	c.1792C>G	c.(1792-1794)Ctc>Gtc	p.L598V	USP35_ENST00000441408.2_Missense_Mutation_p.L184V|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.L166V|USP35_ENST00000526425.1_Missense_Mutation_p.L329V	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	598					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GGACCTCTCTCTCGCCTTCCC	0.622													10	132					0	0	0	0	G	77920693	C	G	77920693	3	3	270	1	0	0	0	0	1	0	0	0	17162	913	32	2	1826	2	USP35	11	77920693	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1046792	77920693	57085823	349	48337											
ZC3H12C	85463	broad.mit.edu	37	chr11	110023720	110023720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttggaaagaggccacaaaGacattacagtttttgttcct	12	14	8	7	0	0	2	0	0	0	2	1	3	1	3	2	2	1	2	2	2	3	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:110023720G>C	ENST00000453089.2	+	2	1638	c.757G>C	c.(757-759)Gac>Cac	p.D253H	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D285H|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D284H			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	284							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AGGCCACAAAGACATTACAGT	0.428													3	7					0	0	0	0	C	110023720	G	C	110023720	3	2	270	1	0	0	0	0	1	0	0	0	17658	942	33	2	860	2	ZC3H12C	11	110023720	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	32103027	110023720	24982796	350	48338											
IL10RA	3587	broad.mit.edu	37	chr11	117860224	117860224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctatgaccttaccgcaGtgaccttggacctgtaccac	8	11	8	14	1	0	2	0	2	0	0	1	3	1	3	6	1	2	2	6	1	3	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:117860224G>A	ENST00000227752.3	+	3	376	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000541785.1_Missense_Mutation_p.V66M|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	86						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCTTACCGCAGTGACCTTGGA	0.577													28	37					0	0	0	0	A	117860224	G	A	117860224	3	1	270	1	0	0	0	0	1	0	0	0	7673	1029	36	4	266	4	IL10RA	11	117860224	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	7836504	117860224	17146292	351	48339											
ARCN1	372	broad.mit.edu	37	chr11	118453900	118453900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtccacgcttagatccctGaatattgccgagccttagaa	10	11	9	11	2	0	3	0	1	0	2	2	4	2	3	4	0	2	1	4	0	5	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:118453900G>A	ENST00000359415.4	+	4	562	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000264028.4_Missense_Mutation_p.E92K|ARCN1_ENST00000392859.3_Missense_Mutation_p.E4K			P48444	COPD_HUMAN	archain 1	92					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTAGATCCCTGAATATTGCCG	0.348													35	53					0	0	0	0	A	118453900	G	A	118453900	3	1	270	1	0	0	0	0	1	0	0	0	844	1291	45	2	284	2	ARCN1	11	118453900	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	593676	118453900	16552616	352	48340											
OR10G4	390264	broad.mit.edu	37	chr11	123886938	123886938	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtgctgtcctatgtgtcCatcgtctgttccatcctgcg	5	15	9	12	2	1	0	0	0	1	0	6	0	5	0	4	0	2	2	4	0	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:123886938C>A	ENST00000320891.4	+	1	657	c.657C>A	c.(655-657)tcC>tcA	p.S219S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCTATGTGTCCATCGTCTGTT	0.542													36	60					5.8336e-16	6.36828e-16	1	0	A	123886938	C	A	123886938	2	1	270	1	0	0	0	0	0	0	0	1	10972	581	21	4		4	OR10G4	11	123886938	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	5433038	123886938	11119578	353	48341											
TMEM45B	120224	broad.mit.edu	37	chr11	129724648	129724648	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttgacatgctcacctatCtggtcagccacgttcccttg	6	14	8	13	1	3	1	2	1	1	0	4	1	4	1	3	1	2	3	3	1	1	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:129724648C>G	ENST00000281441.3	+	3	410	c.322C>G	c.(322-324)Ctg>Gtg	p.L108V	TMEM45B_ENST00000524567.1_Missense_Mutation_p.L108V	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	108						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GCTCACCTATCTGGTCAGCCA	0.483													29	40					0	0	0	0	G	129724648	C	G	129724648	3	3	270	1	0	0	0	0	1	0	0	0	16264	912	32	2	328	2	TMEM45B	11	129724648	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	5837710	129724648	5281868	354	48342											
B4GALNT3	283358	broad.mit.edu	37	chr12	662840	662840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatgcggcctcaggcccctgGaaggggctggcatggggagg	6	5	20	10	1	1	0	1	0	0	0	1	3	1	2	3	9	1	2	3	9	1	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:662840G>A	ENST00000266383.5	+	14	1764	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	584						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)			CAGGCCCCTGGAAGGGGCTGG	0.642													9	36					0	0	0	0	A	662840	G	A	662840	3	1	270	1	0	0	0	0	1	0	0	0	1272	1174	41	2	1805	2	B4GALNT3	12	662840	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08		662840	133189055	355	48343											
AKAP3	10566	broad.mit.edu	37	chr12	4736776	4736776	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcagaatacattttttctCtcaatttagtttcagatttc	10	20	4	7	0	4	2	3	0	1	2	6	2	4	2	0	0	1	2	0	0	4	9			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:4736776C>G	ENST00000545990.2	-	5	1816	c.1292G>C	c.(1291-1293)aGa>aCa	p.R431T	AKAP3_ENST00000228850.1_Missense_Mutation_p.R431T	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	431					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CATTTTTTCTCTCAATTTAGT	0.408													21	108					0	0	0	0	G	4736776	C	G	4736776	3	3	270	1	0	0	0	0	1	0	0	0	452	913	32	2	1277	2	AKAP3	12	4736776	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	4073936	4736776	129115119	356	48344											
LTBR	4055	broad.mit.edu	37	chr12	6499994	6499994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctggccctcccgggctctCtacaccccaccaggaagatg	7	6	9	19	1	1	1	0	0	1	1	3	2	2	2	6	3	1	1	6	3	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:6499994C>G	ENST00000228918.4	+	10	1525	c.1199C>G	c.(1198-1200)tCt>tGt	p.S400C	LTBR_ENST00000539925.1_Missense_Mutation_p.S381C|LTBR_ENST00000541102.1_Missense_Mutation_p.S257C	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	400					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CCCGGGCTCTCTACACCCCAC	0.632													56	123					0	0	0	0	G	6499994	C	G	6499994	3	3	270	1	0	0	0	0	1	0	0	0	9141	913	32	2	1237	2	LTBR	12	6499994	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1763218	6499994	127351901	357	48345											
C12orf57	113246	broad.mit.edu	37	chr12	7054986	7054986	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgaagcccaggatcctgaGatcgccagcctgtcaggcaa	11	6	11	13	2	1	1	1	1	0	1	3	4	2	2	4	2	3	1	4	2	3	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:7054986G>A	ENST00000537087.1	+	3	483	c.195G>A	c.(193-195)gaG>gaA	p.E65E	C12orf57_ENST00000542222.1_3'UTR|C12orf57_ENST00000229281.5_Silent_p.E94E|C12orf57_ENST00000540506.2_Silent_p.E59E			Q99622	C10_HUMAN	chromosome 12 open reading frame 57	94										kidney(1)|large_intestine(1)	2						AGGATCCTGAGATCGCCAGCC	0.617													8	26					0	0	0	0	A	7054986	G	A	7054986	2	1	270	1	0	0	0	0	0	0	0	1	1713	933	33	2		2	C12orf57	12	7054986	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	554992	7054986	126796909	358	48346											
C1RL	51279	broad.mit.edu	37	chr12	7260991	7260991	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgggtacccgggggatgtCagctgctggggtagctcttg	4	11	17	9	1	3	0	1	0	2	0	3	1	3	1	1	5	4	5	1	5	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:7260991C>T	ENST00000266542.4	-	2	248	c.156G>A	c.(154-156)ctG>ctA	p.L52L	C1RL-AS1_ENST00000541775.1_RNA|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000545337.1_Silent_p.L52L|C1RL-AS1_ENST00000435921.2_RNA|C1RL_ENST00000544702.1_Silent_p.L52L	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	52	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGGGGGATGTCAGCTGCTGGG	0.632													18	55					0	0	0	0	T	7260991	C	T	7260991	2	4	270	1	0	0	0	0	0	0	0	1	1992	813	29	2		2	C1RL	12	7260991	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	206005	7260991	126590904	359	48347											
KLRC3	3823	broad.mit.edu	37	chr12	10570960	10570960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccatttcttcttcattatCtatacaaagcagactagaag	14	14	4	9	0	4	2	1	0	3	2	4	2	4	2	1	0	3	1	1	0	7	8			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:10570960C>G	ENST00000396439.2	-	4	513	c.469G>C	c.(469-471)Gat>Cat	p.D157H	NKG2-E_ENST00000539033.1_Missense_Mutation_p.D157H|KLRC3_ENST00000381903.2_Missense_Mutation_p.D157H|KLRC3_ENST00000381904.2_Missense_Mutation_p.D157H	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCTTCATTATCTATACAAAGC	0.323													29	84					0	0	0	0	G	10570960	C	G	10570960	3	3	270	1	0	0	0	0	1	0	0	0	8469	913	32	2	365	2	KLRC3	12	10570960	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	3309969	10570960	123280935	360	48348											
CDKN1B	1027	broad.mit.edu	37	chr12	12874066	12874066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacatatcgctgacttCatggaatggacatcctgtat	14	12	7	8	1	1	1	1	1	0	0	3	3	2	3	1	2	1	2	1	2	6	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:12874066C>A	ENST00000396340.1	+	2	561	c.543C>A	c.(541-543)ttC>ttA	p.F181L	CDKN1B_ENST00000228872.4_3'UTR|CDKN1B_ENST00000477087.1_3'UTR			P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	0					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TCGCTGACTTCATGGAATGGA	0.328													6	20					0.00116845	0.00120157	1	0	A	12874066	C	A	12874066	3	1	270	1	0	0	0	0	1	0	0	0	3188	841	29	2		2	CDKN1B	12	12874066	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2303106	12874066	120977829	361	48349											
PDE3A	5139	broad.mit.edu	37	chr12	20799804	20799804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttggagttgatggcgCtgtatgtggctgcagccatg	5	12	15	9	1	0	1	0	1	0	0	0	2	0	2	2	3	3	5	2	3	1	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:20799804C>A	ENST00000359062.3	+	12	2525	c.2485C>A	c.(2485-2487)Ctg>Atg	p.L829M	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	829	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GTTGATGGCGCTGTATGTGGC	0.428													33	126					1.62565e-12	1.7602e-12	1	0	A	20799804	C	A	20799804	3	1	270	1	0	0	0	0	1	0	0	0	11708	796	28	4	2531	4	PDE3A	12	20799804	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	7925738	20799804	113052091	362	48350											
SLCO1B1	10599	broad.mit.edu	37	chr12	21358889	21358889	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagtcaatgggaaccagtCtgtggaaacaatggaataac	17	7	11	6	0	2	0	1	0	1	0	2	4	2	3	1	3	3	0	1	3	7	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:21358889C>G	ENST00000256958.2	+	11	1515	c.1419C>G	c.(1417-1419)gtC>gtG	p.V473V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	473	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GGGAACCAGTCTGTGGAAACA	0.368													11	82					0	0	0	0	G	21358889	C	G	21358889	2	3	270	1	0	0	0	0	0	0	0	1	14811	900	32	2		2	SLCO1B1	12	21358889	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	559085	21358889	112493006	363	48351											
SSPN	8082	broad.mit.edu	37	chr12	26377309	26377309	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatgtattcaattttctatGaaagtaagttgtgattgttc	12	18	7	4	0	2	2	1	2	1	0	3	2	2	2	0	0	0	4	0	0	5	9			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:26377309G>C	ENST00000242729.2	+	2	540	c.363G>C	c.(361-363)atG>atC	p.M121I	SSPN_ENST00000422622.2_Missense_Mutation_p.M18I|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000535504.1_Missense_Mutation_p.M121I|SSPN_ENST00000540266.1_Missense_Mutation_p.M18I	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	121					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					AATTTTCTATGAAAGTAAGTT	0.373													45	152					0	0	0	0	C	26377309	G	C	26377309	3	2	270	1	0	0	0	0	1	0	0	0	15278	1290	45	2	369	2	SSPN	12	26377309	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	5018420	26377309	107474586	364	48352											
PPFIBP1	8496	broad.mit.edu	37	chr12	27834486	27834486	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cattttcctgtagtgacttgGatatgccatttgccaagtgg	8	15	10	8	0	0	1	0	1	0	0	1	2	1	2	3	2	2	1	3	2	3	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:27834486G>C	ENST00000318304.8	+	21	2204	c.1921G>C	c.(1921-1923)Gat>Cat	p.D641H	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D488H|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.D610H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D635H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	641					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TAGTGACTTGGATATGCCATT	0.418													11	103					0	0	0	0	C	27834486	G	C	27834486	3	2	270	1	0	0	0	0	1	0	0	0	12384	1174	41	2	2023	2	PPFIBP1	12	27834486	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1457177	27834486	106017409	365	48353											
OVCH1	341350	broad.mit.edu	37	chr12	29649538	29649538	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctccaactactaattctaGagaagaatctagatcccacg	14	11	5	11	1	3	3	0	0	3	3	5	4	4	3	2	0	2	0	2	0	7	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:29649538G>C	ENST00000318184.5	-	2	133	c.134C>G	c.(133-135)tCt>tGt	p.S45C		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	45	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACTAATTCTAGAGAAGAATCT	0.413													40	90					0	0	0	0	C	29649538	G	C	29649538	3	2	270	1	0	0	0	0	1	0	0	0	11394	942	33	2	3378	2	OVCH1	12	29649538	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1815052	29649538	104202357	366	48354											
ARID2	196528	broad.mit.edu	37	chr12	46231439	46231439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtgctatacatgctcacgGaaatgggagatgttgcttgc	10	11	13	7	1	1	1	1	0	0	1	1	3	1	2	0	3	5	4	0	3	3	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:46231439G>A	ENST00000334344.6	+	10	1451	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.E278K|ARID2_ENST00000444670.1_Missense_Mutation_p.E56K	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	427					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATGCTCACGGAAATGGGAGA	0.378			"N, S, F"		hepatocellular carcinoma								18	39					0	0	0	0	A	46231439	G	A	46231439	3	1	270	1	0	0	0	0	1	0	0	0	917	1175	41	2	1317	2	ARID2	12	46231439	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	16581901	46231439	87620456	367	48355											
RAPGEF3	10411	broad.mit.edu	37	chr12	48143273	48143273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgcatcattcaccagaGccagctgtccaaaatcatct	11	9	9	12	0	4	1	3	0	1	1	5	1	5	1	3	2	3	2	3	2	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:48143273G>A	ENST00000405493.2	-	10	1024	c.815C>T	c.(814-816)gCt>gTt	p.A272V	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A314V|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.A314V|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A272V|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.A314V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A272V|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A272V	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	272					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ATTCACCAGAGCCAGCTGTCC	0.612													9	62					0	0	0	0	A	48143273	G	A	48143273	3	1	270	1	0	0	0	0	1	0	0	0	13127	971	34	4	1906	4	RAPGEF3	12	48143273	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1911834	48143273	85708622	368	48356											
OR8S1	341568	broad.mit.edu	37	chr12	48920205	48920205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgccatctcatgccaaactCaggttcccccatagagttga	10	9	7	15	1	2	2	2	1	1	1	4	2	3	2	5	1	2	2	5	1	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:48920205C>T	ENST00000310194.1	+	1	791	c.791C>T	c.(790-792)tCa>tTa	p.S264L	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						ATGCCAAACTCAGGTTCCCCC	0.498													24	72					0	0	0	0	T	48920205	C	T	48920205	3	4	270	1	0	0	0	0	1	0	0	0	11317	838	29	2	793	2	OR8S1	12	48920205	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	776932	48920205	84931690	369	48357											
CCNT1	904	broad.mit.edu	37	chr12	49088089	49088089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcacttgtggtagaagttGacatgctcattaaacctgca	11	12	9	9	0	1	2	1	1	0	1	1	2	1	2	1	1	4	5	1	1	4	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:49088089G>A	ENST00000261900.3	-	9	1130	c.908C>T	c.(907-909)tCa>tTa	p.S303L		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	303					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GGTAGAAGTTGACATGCTCAT	0.493													31	61					0	0	0	0	A	49088089	G	A	49088089	3	1	270	1	0	0	0	0	1	0	0	0	2963	1294	45	2	1276	2	CCNT1	12	49088089	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	167884	49088089	84763806	370	48358											
FKBP11	51303	broad.mit.edu	37	chr12	49315828	49315828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttttggagactttgggtCtattggcctttctgtatagg	5	19	11	6	0	3	1	0	0	3	1	3	2	3	1	1	4	0	1	1	4	3	8			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:49315828C>G	ENST00000550765.1	-	6	943	c.545G>C	c.(544-546)aGa>aCa	p.R182T	CCDC65_ENST00000266984.5_Intron|ARF3_ENST00000398092.4_Intron|AC073610.5_ENST00000537495.1_3'UTR|FKBP11_ENST00000444214.2_Missense_Mutation_p.R80T	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	182					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(3)|lung(1)	5						GACTTTGGGTCTATTGGCCTT	0.408													7	104					0	0	0	0	G	49315828	C	G	49315828	3	3	270	1	0	0	0	0	1	0	0	0	5948	913	32	2	64	2	FKBP11	12	49315828	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	227739	49315828	84536067	371	48359											
PRPF40B	25766	broad.mit.edu	37	chr12	50035744	50035744	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgaggacttcgcccacgtCataagctttgacaagagggc	10	10	11	10	2	1	3	1	2	0	1	2	4	1	4	1	2	1	1	1	2	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:50035744C>T	ENST00000261897.1	+	18	2267	c.1716C>T	c.(1714-1716)gtC>gtT	p.V572V	PRPF40B_ENST00000548825.2_Silent_p.V607V|PRPF40B_ENST00000380281.1_Silent_p.V585V|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	585					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TCGCCCACGTCATAAGCTTTG	0.597													31	78					0	0	0	0	T	50035744	C	T	50035744	2	4	270	1	0	0	0	0	0	0	0	1	12652	813	29	2		2	PRPF40B	12	50035744	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	719916	50035744	83816151	372	48360											
KRT5	3852	broad.mit.edu	37	chr12	52910942	52910942	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcctctggatcatccggttCatctcagagatctcatgctt	8	13	8	12	1	5	1	4	0	3	1	8	3	6	2	2	2	2	2	2	2	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:52910942C>G	ENST00000252242.4	-	6	1557	c.1167G>C	c.(1165-1167)atG>atC	p.M389I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	389	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCATCCGGTTCATCTCAGAGA	0.522													26	99					0	0	0	0	G	52910942	C	G	52910942	3	3	270	1	0	0	0	0	1	0	0	0	8531	826	29	2	621	2	KRT5	12	52910942	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2875198	52910942	80940953	373	48361											
OR6C6	283365	broad.mit.edu	37	chr12	55688558	55688558	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaccaatgggggaaatatGattaagaatccagttaccca	16	9	9	7	0	0	3	0	2	0	1	1	4	1	4	3	2	1	1	3	2	6	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:55688558G>A	ENST00000358433.2	-	1	458	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGGGAAATATGATTAAGAATC	0.418													8	49					0	0	0	0	A	55688558	G	A	55688558	2	1	270	1	0	0	0	0	0	0	0	1	11265	1280	45	2		2	OR6C6	12	55688558	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2777616	55688558	78163337	374	48362											
STAT2	6773	broad.mit.edu	37	chr12	56740694	56740694	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagacatggtcttcttCagcagccggcgctcctggct	5	10	12	14	2	3	1	1	0	2	1	4	1	4	1	3	3	3	3	3	3	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:56740694C>A	ENST00000314128.4	-	20	1793	c.1770G>T	c.(1768-1770)ctG>ctT	p.L590L	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Silent_p.L586L			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	590	SH2.				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGGTCTTCTTCAGCAGCCGGC	0.607													21	95					6.33239e-15	6.88453e-15	1	0	A	56740694	C	A	56740694	2	1	270	1	0	0	0	0	0	0	0	1	15355	813	29	2		2	STAT2	12	56740694	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1052136	56740694	77111201	375	48363											
NACA	4666	broad.mit.edu	37	chr12	57106570	57106570	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggcttgaacacttacCataatcgcatttacaatatc	16	11	4	10	1	0	1	0	1	0	0	2	1	0	1	1	1	3	2	1	1	7	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106570C>T	ENST00000454682.1	-	8	6503	c.6222_splice	c.e8+1	p.M2074_splice	NACA_ENST00000552540.1_Splice_Site_p.M211_splice|NACA_ENST00000393891.4_Splice_Site_p.M211_splice|NACA_ENST00000356769.3_Splice_Site_p.M211_splice|NACA_ENST00000548563.1_Splice_Site_p.M132_splice|NACA_ENST00000550952.1_Splice_Site_p.M921_splice|NACA_ENST00000546392.1_Splice_Site_p.M211_splice	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	211					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAACACTTACCATAATCGCAT	0.403			T	BCL6	NHL								17	79					0	0	0	0	T	57106570	C	T	57106570	5	4	270	1	0	0	0	0	0	0	1	0	10203	608	21	4	22	4	NACA	12	57106570	Splice_Site	SNP	C	TCGA-CV-6961-01A-21D-1912-08	365876	57106570	76745325	376	48364			2	72		14	14	6428	C		6.239206e-22
NACA	4666	broad.mit.edu	37	chr12	57106606	57106606	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatcattactgttgttcttCagggctcggactgcctttgc	6	16	9	10	1	3	0	2	0	1	0	4	1	3	1	1	2	3	3	1	2	2	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106606C>T	ENST00000454682.1	-	8	6467	c.6186G>A	c.(6184-6186)ctG>ctA	p.L2062L	NACA_ENST00000552540.1_Silent_p.L199L|NACA_ENST00000393891.4_Silent_p.L199L|NACA_ENST00000356769.3_Silent_p.L199L|NACA_ENST00000548563.1_Silent_p.L120L|NACA_ENST00000550952.1_Silent_p.L909L|NACA_ENST00000546392.1_Silent_p.L199L	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	199					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGTTGTTCTTCAGGGCTCGGA	0.423			T	BCL6	NHL								15	84					0	0	0	0	T	57106606	C	T	57106606	2	4	270	1	0	0	0	0	0	0	0	1	10203	813	29	2		2	NACA	12	57106606	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	36	57106606	76745289	377	48365			2	72		14	14	6428	C		6.239206e-22
NACA	4666	broad.mit.edu	37	chr12	57106659	57106659	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttgtgacatgaccaattCaatgtccttaacttctacac	11	14	5	11	0	2	2	1	2	1	0	3	2	3	2	2	0	3	1	2	0	4	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106659C>G	ENST00000454682.1	-	8	6414	c.6133G>C	c.(6133-6135)Gaa>Caa	p.E2045Q	NACA_ENST00000552540.1_Missense_Mutation_p.E182Q|NACA_ENST00000393891.4_Missense_Mutation_p.E182Q|NACA_ENST00000356769.3_Missense_Mutation_p.E182Q|NACA_ENST00000548563.1_Missense_Mutation_p.E103Q|NACA_ENST00000550952.1_Missense_Mutation_p.E892Q|NACA_ENST00000546392.1_Missense_Mutation_p.E182Q	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	182					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATGACCAATTCAATGTCCTTA	0.403			T	BCL6	NHL								10	91					0	0	0	0	G	57106659	C	G	57106659	3	3	270	1	0	0	0	0	1	0	0	0	10203	835	29	2	111	2	NACA	12	57106659	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	53	57106659	76745236	378	48366			2	72		14	14	6428	C		6.239206e-22
NACA	4666	broad.mit.edu	37	chr12	57106861	57106861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatacctcttcctcttcactCtcctcttgtacagttggagt	6	17	5	13	0	5	0	1	0	4	0	7	1	6	1	3	1	2	2	3	1	3	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106861C>G	ENST00000454682.1	-	7	6365	c.6084G>C	c.(6082-6084)gaG>gaC	p.E2028D	NACA_ENST00000552540.1_Missense_Mutation_p.E165D|NACA_ENST00000393891.4_Missense_Mutation_p.E165D|NACA_ENST00000356769.3_Missense_Mutation_p.E165D|NACA_ENST00000548563.1_Missense_Mutation_p.E86D|NACA_ENST00000550952.1_Missense_Mutation_p.E875D|NACA_ENST00000546392.1_Missense_Mutation_p.E165D	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	165					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCTCTTCACTCTCCTCTTGTA	0.403			T	BCL6	NHL								7	41					0	0	0	0	G	57106861	C	G	57106861	3	3	270	1	0	0	0	0	1	0	0	0	10203	912	32	2	164	2	NACA	12	57106861	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	202	57106861	76745034	379	48367			2	72		14	14	6428	C		6.239206e-22
NACA	4666	broad.mit.edu	37	chr12	57108149	57108149	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttttcaaatcttaccttCcgtgccttcttttcactccg	5	18	3	15	2	4	0	2	0	2	0	7	0	7	0	5	0	2	0	5	0	2	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57108149C>A	ENST00000454682.1	-	5	6101	c.5820G>T	c.(5818-5820)cgG>cgT	p.R1940R	NACA_ENST00000552540.1_Silent_p.R77R|NACA_ENST00000393891.4_Silent_p.R77R|NACA_ENST00000356769.3_Silent_p.R77R|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000550952.1_Silent_p.R787R|NACA_ENST00000546392.1_Silent_p.R77R	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	77					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATCTTACCTTCCGTGCCTTCT	0.398			T	BCL6	NHL								10	47					4.68919e-08	4.96942e-08	1	0	A	57108149	C	A	57108149	2	1	270	1	0	0	0	0	0	0	0	1	10203	842	30	2		2	NACA	12	57108149	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1288	57108149	76743746	380	48368			2	72		14	14	6428	C		6.239206e-22
NACA	4666	broad.mit.edu	37	chr12	57110190	57110190	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggtgaagtagcagaactCtttttggtctgtggaccttt	8	14	13	6	0	2	2	0	1	2	1	2	4	2	4	1	4	2	2	1	4	3	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57110190C>G	ENST00000454682.1	-	3	5405	c.5124G>C	c.(5122-5124)aaG>aaC	p.K1708N	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TAGCAGAACTCTTTTTGGTCT	0.522			T	BCL6	NHL								78	265					0	0	0	0	G	57110190	C	G	57110190	3	3	270	1	0	0	0	0	1	0	0	0	10203	912	32	2	1140	2	NACA	12	57110190	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2041	57110190	76741705	381	48369			2	72		14	14	6428	C		6.239206e-22
NACA	4666	broad.mit.edu	37	chr12	57110480	57110480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggaggagtaggtgcctCtttgggggaaggagaagtca	10	8	18	5	0	2	1	1	0	1	1	2	5	2	4	1	6	2	2	1	6	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57110480C>T	ENST00000454682.1	-	3	5115	c.4834G>A	c.(4834-4836)Gag>Aag	p.E1612K	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GTAGGTGCCTCTTTGGGGGAA	0.607			T	BCL6	NHL								10	23					0	0	0	0	T	57110480	C	T	57110480	3	4	270	1	0	0	0	0	1	0	0	0	10203	922	32	2	1430	2	NACA	12	57110480	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	290	57110480	76741415	382	48370			2	72		14	14	6428	C		6.239206e-22
NACA	4666	broad.mit.edu	37	chr12	57110522	57110522	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctggtggaatgaggagctCtttgggggatggggcccctt	6	10	18	7	0	1	1	0	1	1	0	1	4	1	4	2	7	2	2	2	7	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57110522C>G	ENST00000454682.1	-	3	5073	c.4792G>C	c.(4792-4794)Gag>Cag	p.E1598Q	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATGAGGAGCTCTTTGGGGGAT	0.597			T	BCL6	NHL								5	27					0	0	0	0	G	57110522	C	G	57110522	3	3	270	1	0	0	0	0	1	0	0	0	10203	922	32	2	1472	2	NACA	12	57110522	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	42	57110522	76741373	383	48371			2	72		14	14	6428	C		6.239206e-22
NACA	4666	broad.mit.edu	37	chr12	57110609	57110609	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatggggtagctggggcttCtttgggggttggaattgctg	4	13	20	4	0	1	0	0	0	1	0	1	2	1	2	0	8	2	5	0	8	2	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57110609C>G	ENST00000454682.1	-	3	4986	c.4705G>C	c.(4705-4707)Gaa>Caa	p.E1569Q	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCTGGGGCTTCTTTGGGGGTT	0.567			T	BCL6	NHL								7	20					0	0	0	0	G	57110609	C	G	57110609	3	3	270	1	0	0	0	0	1	0	0	0	10203	922	32	2	1559	2	NACA	12	57110609	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	87	57110609	76741286	384	48372			2	72		14	14	6428	C		6.239206e-22
NACA	4666	broad.mit.edu	37	chr12	57110634	57110634	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggttggaattgctggggtCtttttaggggagggaacagt	7	12	19	3	0	1	0	0	0	1	0	1	3	1	3	0	8	2	2	0	8	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57110634C>G	ENST00000454682.1	-	3	4961	c.4680G>C	c.(4678-4680)aaG>aaC	p.K1560N	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTGCTGGGGTCTTTTTAGGGG	0.567			T	BCL6	NHL								11	27					0	0	0	0	G	57110634	C	G	57110634	3	3	270	1	0	0	0	0	1	0	0	0	10203	912	32	2	1584	2	NACA	12	57110634	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	25	57110634	76741261	385	48373			2	72		14	14	6428	C		6.239206e-22
NACA	4666	broad.mit.edu	37	chr12	57111479	57111479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctttgtggggtggggtagCtagacctccttttagggagg	5	12	16	8	0	0	1	0	0	0	1	1	2	1	2	3	6	1	2	3	6	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57111479C>G	ENST00000454682.1	-	3	4116	c.3835G>C	c.(3835-3837)Gct>Cct	p.A1279P	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGTGGGGTAGCTAGACCTCCT	0.647			T	BCL6	NHL								27	76					0	0	0	0	G	57111479	C	G	57111479	3	3	270	1	0	0	0	0	1	0	0	0	10203	797	28	4	2429	4	NACA	12	57111479	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	845	57111479	76740416	386	48374			2	72		14	14	6428	C		6.239206e-22
NACA	4666	broad.mit.edu	37	chr12	57112180	57112180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggggtagctgctggacttCctttgggggagggaggagtt	5	11	20	5	0	0	0	0	0	0	0	1	4	1	4	1	7	2	4	1	7	1	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57112180C>T	ENST00000454682.1	-	3	3415	c.3134G>A	c.(3133-3135)gGa>gAa	p.G1045E	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGCTGGACTTCCTTTGGGGGA	0.632			T	BCL6	NHL								31	40					0	0	0	0	T	57112180	C	T	57112180	3	4	270	1	0	0	0	0	1	0	0	0	10203	855	30	2	3130	2	NACA	12	57112180	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	701	57112180	76739715	387	48375			2	72		14	14	6428	C		6.239206e-22
NACA	4666	broad.mit.edu	37	chr12	57112459	57112459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggatggggtagctgggcctCctttaggggagggaggagtt	6	9	21	5	0	0	0	0	0	0	0	1	4	1	4	2	8	1	3	2	8	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57112459C>T	ENST00000454682.1	-	3	3136	c.2855G>A	c.(2854-2856)gGa>gAa	p.G952E	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGCTGGGCCTCCTTTAGGGGA	0.642			T	BCL6	NHL								18	53					0	0	0	0	T	57112459	C	T	57112459	3	4	270	1	0	0	0	0	1	0	0	0	10203	855	30	2	3409	2	NACA	12	57112459	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	279	57112459	76739436	388	48376			2	72		14	14	6428	C		6.239206e-22
NACA	4666	broad.mit.edu	37	chr12	57112997	57112997	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaagcaccagagtcctCagttgggcactctttgggag	10	8	13	10	0	2	2	1	0	1	2	3	3	3	3	2	2	2	4	2	2	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57112997C>A	ENST00000454682.1	-	3	2598	c.2317G>T	c.(2317-2319)Gag>Tag	p.E773*	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCAGAGTCCTCAGTTGGGCAC	0.493			T	BCL6	NHL								9	16					0.000442599	0.000456323	1	0	A	57112997	C	A	57112997	4	1	270	1	0	0	0	0	0	1	0	0	10203	835	29	2	3947	2	NACA	12	57112997	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	538	57112997	76738898	389	48377			2	72		14	14	6428	C		6.239206e-22
NAB2	4665	broad.mit.edu	37	chr12	57484986	57484986	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctgcagcgcgccaacctCctttcctactatgagacctt	7	11	7	16	2	0	1	0	1	0	1	3	2	3	1	6	0	4	1	6	0	3	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57484986C>A	ENST00000300131.3	+	2	540	c.162C>A	c.(160-162)ctC>ctA	p.L54L	NAB2_ENST00000342556.6_Silent_p.L54L|NAB2_ENST00000554718.1_Intron|NAB2_ENST00000357680.4_Silent_p.L54L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	54	NCD1.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCGCCAACCTCCTTTCCTACT	0.632													25	102					7.88262e-20	8.67632e-20	1	0	A	57484986	C	A	57484986	2	1	270	1	0	0	0	0	0	0	0	1	10202	842	30	2		2	NAB2	12	57484986	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	371989	57484986	76366909	390	48378											
GLI1	2735	broad.mit.edu	37	chr12	57857788	57857788	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcttttttctaggactgtCtggcccgcccttctgccacc	3	15	7	16	1	4	0	0	0	4	0	5	1	4	1	4	2	1	0	4	2	1	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57857788C>G	ENST00000228682.2	+	3	198	c.107C>G	c.(106-108)tCt>tGt	p.S36C	GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	36					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTAGGACTGTCTGGCCCGCCC	0.552													42	204					0	0	0	0	G	57857788	C	G	57857788	3	3	270	1	0	0	0	0	1	0	0	0	6488	913	32	2	113	2	GLI1	12	57857788	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	372802	57857788	75994107	391	48379											
OS9	10956	broad.mit.edu	37	chr12	58112070	58112070	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatgaggatgaggatgaaGatgaggatgaacggcagtta	15	7	17	2	1	0	6	0	5	0	1	0	10	0	10	0	5	1	2	0	5	3	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:58112070G>C	ENST00000315970.7	+	11	1317	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	OS9_ENST00000551035.1_Missense_Mutation_p.D394H|OS9_ENST00000389146.6_Missense_Mutation_p.D426H|OS9_ENST00000389142.5_Missense_Mutation_p.D426H|OS9_ENST00000257966.8_Missense_Mutation_p.D427H|OS9_ENST00000413095.2_Missense_Mutation_p.D220H|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000439210.2_Missense_Mutation_p.D367H|OS9_ENST00000435406.2_Missense_Mutation_p.D374H|OS9_ENST00000552285.1_Missense_Mutation_p.D426H	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	426	Asp/Glu-rich (acidic).				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			tgaggatgaagatgaggatga	0.542													6	74					0	0	0	0	C	58112070	G	C	58112070	3	2	270	1	0	0	0	0	1	0	0	0	11343	942	33	2	1318	2	OS9	12	58112070	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	254282	58112070	75739825	392	48380											
BEST3	144453	broad.mit.edu	37	chr12	70049339	70049339	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccttctgggaagcaggatTtcttccaggtgggtgaggcc	6	12	14	9	0	2	1	0	1	2	0	4	3	4	3	3	5	1	1	3	5	1	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:70049339T>A	ENST00000330891.5	-	10	1581	c.1355A>T	c.(1354-1356)aAa>aTa	p.K452I	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.K346I|BEST3_ENST00000488961.1_Missense_Mutation_p.K239I	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	452						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GAAGCAGGATTTCTTCCAGGT	0.592													5	108					0	0	0	0	A	70049339	T	A	70049339	3	1	270	1	0	0	0	0	1	0	0	0	1410	1841	64	5	655	5	BEST3	12	70049339	Missense_Mutation	SNP	T	TCGA-CV-6961-01A-21D-1912-08	11937269	70049339	63802556	393	48381											
BEST3	144453	broad.mit.edu	37	chr12	70049452	70049452	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagctgtcacttgtctgcctCctgtagcttcttcttctggg	3	16	10	12	0	5	0	1	0	4	0	6	1	6	0	2	1	3	3	2	1	1	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:70049452C>G	ENST00000330891.5	-	10	1468	c.1242G>C	c.(1240-1242)agG>agC	p.R414S	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R308S|BEST3_ENST00000488961.1_Missense_Mutation_p.R201S	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	414						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTGTCTGCCTCCTGTAGCTTC	0.562													25	114					0	0	0	0	G	70049452	C	G	70049452	3	3	270	1	0	0	0	0	1	0	0	0	1410	854	30	2	768	2	BEST3	12	70049452	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	113	70049452	63802443	394	48382											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450679	85450679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtatctaaagaagtcaactCtcttaaatctgagattagaa	16	12	7	6	0	4	3	1	1	3	3	5	4	4	3	0	1	1	1	0	1	9	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:85450679C>G	ENST00000393217.2	+	8	2169	c.2108C>G	c.(2107-2109)tCt>tGt	p.S703C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	703										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAGTCAACTCTCTTAAATCT	0.373													46	119					0	0	0	0	G	85450679	C	G	85450679	3	3	270	1	0	0	0	0	1	0	0	0	9093	913	32	2	2134	2	LRRIQ1	12	85450679	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	15401227	85450679	48401216	395	48383											
LRRIQ1	84125	broad.mit.edu	37	chr12	85500377	85500377	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactggaaacccacttcttCaagaaacaaactggaggtaa	16	9	7	9	0	2	1	1	0	1	1	2	3	2	3	1	3	4	1	1	3	6	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:85500377C>T	ENST00000393217.2	+	15	3422	c.3361C>T	c.(3361-3363)Caa>Taa	p.Q1121*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1121	LRRCT.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCCACTTCTTCAAGAAACAAA	0.333													11	61					0	0	0	0	T	85500377	C	T	85500377	4	4	270	1	0	0	0	0	0	1	0	0	9093	827	29	2	3415	2	LRRIQ1	12	85500377	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	49698	85500377	48351518	396	48384											
EPYC	1833	broad.mit.edu	37	chr12	91358091	91358091	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtatcttcgtgcatttccaGaatgttgttattctaaaaaa	12	16	6	7	2	2	1	0	0	2	1	4	1	3	1	1	0	1	4	1	0	6	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:91358091G>A	ENST00000261172.3	-	7	903	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	271					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TGCATTTCCAGAATGTTGTTA	0.338													5	22					0	0	0	0	A	91358091	G	A	91358091	2	1	270	1	0	0	0	0	0	0	0	1	5239	933	33	2		2	EPYC	12	91358091	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	5857714	91358091	42493804	397	48385											
PLEKHG7	440107	broad.mit.edu	37	chr12	93163911	93163911	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaatttcttgctttaccaaGagtcaggaaaccaagaaaat	16	10	7	8	0	2	2	1	0	1	2	2	3	2	3	2	1	3	2	2	1	7	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:93163911G>C	ENST00000344636.3	+	12	1264	c.1080G>C	c.(1078-1080)aaG>aaC	p.K360N		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	360					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						GCTTTACCAAGAGTCAGGAAA	0.333													14	37					0	0	0	0	C	93163911	G	C	93163911	3	2	270	1	0	0	0	0	1	0	0	0	12147	933	33	2	1122	2	PLEKHG7	12	93163911	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1805820	93163911	40687984	398	48386											
NUP37	79023	broad.mit.edu	37	chr12	102471251	102471251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaaagatcataaaaccGgattgttccattcttctctg	12	12	7	10	1	3	1	1	0	2	1	5	2	4	2	3	2	1	1	3	2	4	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:102471251G>A	ENST00000552283.1	-	7	710	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	NUP37_ENST00000251074.1_Missense_Mutation_p.R191W			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	191					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TCATAAAACCGGATTGTTCCA	0.368													20	62					0	0	0	0	A	102471251	G	A	102471251	3	1	270	1	0	0	0	0	1	0	0	0	10835	1115	39	1	425	1	NUP37	12	102471251	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	9307340	102471251	31380644	399	48387											
STAB2	55576	broad.mit.edu	37	chr12	104129353	104129353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaaatgtggagctggcaggGacatcgtgagtatcatcatg	11	10	14	6	1	2	2	2	2	0	0	3	4	2	4	0	3	1	3	0	3	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:104129353G>A	ENST00000388887.2	+	52	5749	c.5545G>A	c.(5545-5547)Gac>Aac	p.D1849N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1849	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCTGGCAGGGACATCGTGAG	0.507													3	10					0	0	0	0	A	104129353	G	A	104129353	3	1	270	1	0	0	0	0	1	0	0	0	15328	1174	41	2	5751	2	STAB2	12	104129353	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1658102	104129353	29722542	400	48388											
SVOP	55530	broad.mit.edu	37	chr12	109306418	109306418	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcctgcagtcctcggcCtttggtctcaatgggcaaaa	8	10	11	12	1	1	0	1	0	1	0	5	1	3	1	3	4	1	2	3	4	3	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:109306418C>A	ENST00000299134.5	-	14	1343	c.1344G>T	c.(1342-1344)aaG>aaT	p.K448N		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						AGTCCTCGGCCTTTGGTCTCA	0.607													44	79					6.4771e-29	7.17879e-29	1	0	A	109306418	C	A	109306418	3	1	270	1	0	0	0	0	1	0	0	0	15513	681	24	4	110	4	SVOP	12	109306418	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	5177065	109306418	24545477	401	48389											
CIT	11113	broad.mit.edu	37	chr12	120241085	120241085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcttcacccgagaagcctGaggggctcagctggcacgga	8	7	14	12	2	3	2	2	1	1	1	3	4	3	3	2	4	2	4	2	4	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:120241085G>A	ENST00000392521.2	-	10	1275	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	CIT_ENST00000261833.7_Missense_Mutation_p.S407L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	407	AGC-kinase C-terminal.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CGAGAAGCCTGAGGGGCTCAG	0.493													34	85					0	0	0	0	A	120241085	G	A	120241085	3	1	270	1	0	0	0	0	1	0	0	0	3468	1294	45	2	5015	2	CIT	12	120241085	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	10934667	120241085	13610810	402	48390											
RPLP0	6175	broad.mit.edu	37	chr12	120635242	120635242	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtagccaatctgcagacaGacactggcaacattgcggac	12	6	12	11	1	1	2	0	0	1	2	1	3	1	3	1	3	4	3	1	3	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:120635242G>C	ENST00000551150.1	-	6	990	c.675C>G	c.(673-675)gtC>gtG	p.V225V	RPLP0_ENST00000392514.4_Silent_p.V225V|RPLP0_ENST00000546989.1_Silent_p.V189V|RPLP0_ENST00000228306.4_Silent_p.V225V|RPLP0_ENST00000552292.1_Silent_p.V15V|RPLP0_ENST00000313104.5_Silent_p.V163V			P05388	RLA0_HUMAN	ribosomal protein, large, P0	225					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGCAGACAGACACTGGCAA	0.488													16	31					0	0	0	0	C	120635242	G	C	120635242	2	2	270	1	0	0	0	0	0	0	0	1	13689	929	33	2		2	RPLP0	12	120635242	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	394157	120635242	13216653	403	48391											
CABP1	9478	broad.mit.edu	37	chr12	121093905	121093905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctggctgaagatgtgccagGaggaacagaccagctacatg	12	6	14	9	0	0	3	0	1	0	2	0	5	0	5	2	3	4	3	2	3	3	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:121093905G>C	ENST00000453000.1	+	1	804	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	CABP1_ENST00000351200.2_Intron|CABP1_ENST00000316803.3_Intron|CABP1_ENST00000288616.3_Missense_Mutation_p.E19Q			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	0	Pro-rich.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGTGCCAGGAGGAACAGAC	0.652													9	35					0	0	0	0	C	121093905	G	C	121093905	3	2	270	1	0	0	0	0	1	0	0	0	2556	1175	41	2	719	2	CABP1	12	121093905	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	458663	121093905	12757990	404	48392											
VPS33A	65082	broad.mit.edu	37	chr12	122750886	122750886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacttgtccaggaactcgcGcagctcgcgacgcaccgcct	7	6	11	17	6	0	0	0	0	0	0	3	2	1	1	3	1	2	4	3	1	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:122750886G>T	ENST00000267199.4	-	1	182	c.70C>A	c.(70-72)Cgc>Agc	p.R24S	VPS33A_ENST00000451053.2_Missense_Mutation_p.R24S|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R24S	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	24					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGGAACTCGCGCAGCTCGCGA	0.667													10	41					4.68919e-08	4.96942e-08	1	0	T	122750886	G	T	122750886	3	4	270	1	0	0	0	0	1	0	0	0	17297	1087	38	3	1772	3	VPS33A	12	122750886	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1656981	122750886	11101009	405	48393											
ZCCHC8	55596	broad.mit.edu	37	chr12	122958596	122958596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagctgcccagatccgcctCtgctgttcttcaagttcttc	6	13	8	14	1	4	2	1	0	3	2	6	2	5	2	3	0	3	4	3	0	1	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:122958596C>T	ENST00000543897.1	-	12	3213	c.858G>A	c.(856-858)caG>caA	p.Q286Q	ZCCHC8_ENST00000538116.1_Silent_p.Q135Q|ZCCHC8_ENST00000536306.1_Silent_p.Q286Q|ZCCHC8_ENST00000336229.4_Silent_p.Q524Q			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	524						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AGATCCGCCTCTGCTGTTCTT	0.572													51	107					0	0	0	0	T	122958596	C	T	122958596	2	4	270	1	0	0	0	0	0	0	0	1	17689	912	32	2		2	ZCCHC8	12	122958596	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	207710	122958596	10893299	406	48394											
DNAH10	196385	broad.mit.edu	37	chr12	124298073	124298073	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgcatcagacttcagctCaggcatctggcaaacacagt	12	9	8	12	0	4	1	3	0	1	1	4	1	4	1	0	2	3	4	0	2	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:124298073C>G	ENST00000409039.3	+	19	3178	c.3153C>G	c.(3151-3153)ctC>ctG	p.L1051L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1051	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACTTCAGCTCAGGCATCTGG	0.438													11	36					0	0	0	0	G	124298073	C	G	124298073	2	3	270	1	0	0	0	0	0	0	0	1	4635	813	29	2		2	DNAH10	12	124298073	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1339477	124298073	9553822	407	48395											
POLE	5426	broad.mit.edu	37	chr12	133248806	133248806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccctgatggttacctcttCaaagttggtgacttgctcca	7	14	8	12	0	2	2	1	2	1	0	4	2	4	2	3	2	2	3	3	2	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:133248806C>T	ENST00000320574.5	-	16	1832	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	POLE_ENST00000535270.1_Missense_Mutation_p.E570K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	597					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTACCTCTTCAAAGTTGGTG	0.557								DNA polymerases (catalytic subunits)					12	64					0	0	0	0	T	133248806	C	T	133248806	3	4	270	1	0	0	0	0	1	0	0	0	12268	835	29	2	5207	2	POLE	12	133248806	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	8950733	133248806	603089	408	48396											
ZNF10	7556	broad.mit.edu	37	chr12	133732691	133732691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactaggcatcagcttattCatactggagaaaaaccctat	14	12	6	9	0	2	1	2	0	0	1	2	2	2	1	1	2	4	2	1	2	7	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:133732691C>T	ENST00000248211.6	+	5	1081	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	ZNF10_ENST00000402932.2_Missense_Mutation_p.H153Y|ZNF10_ENST00000426665.2_Missense_Mutation_p.H287Y|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCAGCTTATTCATACTGGAGA	0.418													16	39					0	0	0	0	T	133732691	C	T	133732691	3	4	270	1	0	0	0	0	1	0	0	0	17807	826	29	2	873	2	ZNF10	12	133732691	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	483885	133732691	119204	409	48397											
RNF17	56163	broad.mit.edu	37	chr13	25348972	25348972	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctacagctgtaaatactAgacaacgctactacccaatg	14	10	6	11	1	0	1	0	0	0	1	0	1	0	1	1	0	7	4	1	0	9	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:25348972A>C	ENST00000255324.5	+	3	299	c.247A>C	c.(247-249)Aga>Cga	p.R83R	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Silent_p.R83R|RNF17_ENST00000381921.1_Silent_p.R83R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	83					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)		TGTAAATACTAGACAACGCTA	0.348													16	27					0	0	0	0	C	25348972	A	C	25348972	2	2	270	1	0	0	0	0	0	0	0	1	13546	412	15	5		5	RNF17	13	25348972	Silent	SNP	A	TCGA-CV-6961-01A-21D-1912-08		25348972	89820906	410	48398											
USPL1	10208	broad.mit.edu	37	chr13	31232715	31232715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaccagcaggccctccatCgtctaatggcacagctgccc	8	6	9	18	1	1	0	0	0	1	0	3	0	2	0	5	2	3	3	5	2	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:31232715C>T	ENST00000255304.4	+	9	2843	c.2501C>T	c.(2500-2502)tCg>tTg	p.S834L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	834					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GGCCCTCCATCGTCTAATGGC	0.507													17	70					0	0	0	0	T	31232715	C	T	31232715	3	4	270	1	0	0	0	0	1	0	0	0	17188	893	31	1	2531	1	USPL1	13	31232715	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	5883743	31232715	83937163	411	48399											
STARD13	90627	broad.mit.edu	37	chr13	33703293	33703293	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtttgcagttcaggcaaGacatctttggaccagtcatc	10	12	10	9	0	3	2	2	1	1	1	4	3	3	3	1	2	1	4	1	2	1	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:33703293G>T	ENST00000336934.5	-	5	1637	c.1521C>A	c.(1519-1521)gtC>gtA	p.V507V	STARD13_ENST00000255486.4_Silent_p.V499V|STARD13_ENST00000399365.3_Silent_p.V389V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	507					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTTCAGGCAAGACATCTTTGG	0.448													23	90					6.21321e-17	6.82e-17	1	0	T	33703293	G	T	33703293	2	4	270	1	0	0	0	0	0	0	0	1	15346	929	33	2		2	STARD13	13	33703293	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2470578	33703293	81466585	412	48400											
HTR2A	3356	broad.mit.edu	37	chr13	47466711	47466711	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcacaaagcttgctcggcaGaggccaccggtaccctatga	10	7	11	13	2	0	2	0	1	0	1	1	2	0	2	3	3	4	5	3	3	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:47466711G>A	ENST00000378688.4	-	2	558	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	HTR2A_ENST00000543956.1_Silent_p.L59L|HTR2A_ENST00000542664.1_Silent_p.L143L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	143					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TTGCTCGGCAGAGGCCACCGG	0.572													20	84					0	0	0	0	A	47466711	G	A	47466711	2	1	270	1	0	0	0	0	0	0	0	1	7494	933	33	2		2	HTR2A	13	47466711	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	13763418	47466711	67703167	413	48401											
MLNR	2862	broad.mit.edu	37	chr13	49796350	49796350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcctctacaacctcatttCaaagaagtacagagcggcgg	14	8	8	11	2	3	2	2	0	1	2	4	2	4	2	2	2	4	1	2	2	6	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:49796350C>T	ENST00000218721.1	+	2	1076	c.1076C>T	c.(1075-1077)tCa>tTa	p.S359L	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	359					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AACCTCATTTCAAAGAAGTAC	0.512													37	105					0	0	0	0	T	49796350	C	T	49796350	3	4	270	1	0	0	0	0	1	0	0	0	9701	838	29	2	1082	2	MLNR	13	49796350	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2329639	49796350	65373528	414	48402											
ALG11	440138	broad.mit.edu	37	chr13	52593181	52593181	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgtcaactagcaaaaatggGaaaaatcaaatggtgattgc	17	9	10	5	0	2	1	2	1	0	0	2	2	2	2	0	2	3	1	0	2	7	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:52593181G>A	ENST00000521508.1	+	2	182	c.177G>A	c.(175-177)ggG>ggA	p.G59G	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GCAAAAATGGGAAAAATCAAA	0.388													16	39					0	0	0	0	A	52593181	G	A	52593181	2	1	270	1	0	0	0	0	0	0	0	1	513	1161	41	2		2	ALG11	13	52593181	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2796831	52593181	62576697	415	48403											
PCDH17	27253	broad.mit.edu	37	chr13	58208612	58208612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgacccgtccagcggcgaGatccgcacgctgcacccttt	7	7	10	17	6	0	1	0	0	0	1	3	3	2	1	4	1	2	3	4	1	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:58208612G>T	ENST00000377918.3	+	1	1958	c.1932G>T	c.(1930-1932)gaG>gaT	p.E644D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	644	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCAGCGGCGAGATCCGCACGC	0.657													43	122					2.13384e-23	2.35845e-23	1	0	T	58208612	G	T	58208612	3	4	270	1	0	0	0	0	1	0	0	0	11583	933	33	2	1934	2	PCDH17	13	58208612	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	5615431	58208612	56961266	416	48404											
ZIC5	85416	broad.mit.edu	37	chr13	100622424	100622424	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaggttctcggagcgcgcGaagaccttgccgcagccggg	6	7	16	12	6	1	2	0	1	1	1	2	4	1	3	3	3	3	2	3	3	1	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:100622424G>A	ENST00000267294.4	-	1	1739	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	502					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGGAGCGCGCGAAGACCTTGC	0.662													22	95					0	0	0	0	A	100622424	G	A	100622424	2	1	270	1	0	0	0	0	0	0	0	1	17777	1049	37	1		1	ZIC5	13	100622424	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	42413812	100622424	14547454	417	48405											
SUPT16H	11198	broad.mit.edu	37	chr14	21827748	21827748	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcacatccgtgtgccgcttCttcccaaacatgatggcatt	8	12	8	13	2	1	1	0	1	1	0	3	1	3	1	3	1	3	3	3	1	1	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:21827748C>G	ENST00000216297.2	-	19	2534	c.2196G>C	c.(2194-2196)aaG>aaC	p.K732N		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	732					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTGCCGCTTCTTCCCAAACA	0.463													18	49					0	0	0	0	G	21827748	C	G	21827748	3	3	270	1	0	0	0	0	1	0	0	0	15486	912	32	2	979	2	SUPT16H	14	21827748	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08		21827748	85521792	418	48406											
CDH24	64403	broad.mit.edu	37	chr14	23523752	23523752	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggttgtcgttgacatcgctGagcgtgacagtcaccgtagt	7	11	14	9	4	1	3	1	3	0	0	3	3	1	3	1	1	1	4	1	1	1	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:23523752G>C	ENST00000397359.3	-	5	1006	c.747C>G	c.(745-747)ctC>ctG	p.L249L	CDH24_ENST00000487137.2_Silent_p.L249L|CDH24_ENST00000267383.5_Silent_p.L249L|CDH24_ENST00000554034.1_Silent_p.L249L	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	249	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TGACATCGCTGAGCGTGACAG	0.607											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	27					0	0	0	0	C	23523752	G	C	23523752	2	2	270	1	0	0	0	0	0	0	0	1	3138	1277	45	2		2	CDH24	14	23523752	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1696004	23523752	83825788	419	48407											
ACIN1	22985	broad.mit.edu	37	chr14	23548138	23548138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcctctcctttggctcaCagacctgcagttgtggcact	7	12	9	13	0	2	1	1	0	1	1	4	1	3	1	3	2	1	4	3	2	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:23548138C>G	ENST00000262710.1	-	7	2399	c.2072G>C	c.(2071-2073)tGt>tCt	p.C691S	ACIN1_ENST00000605057.1_Missense_Mutation_p.C633S|ACIN1_ENST00000555053.1_Missense_Mutation_p.C691S|ACIN1_ENST00000457657.1_Missense_Mutation_p.C651S	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	691					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTTTGGCTCACAGACCTGCAG	0.542													9	39					0	0	0	0	G	23548138	C	G	23548138	3	3	270	1	0	0	0	0	1	0	0	0	142	478	17	4	2152	4	ACIN1	14	23548138	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	24386	23548138	83801402	420	48408											
ACIN1	22985	broad.mit.edu	37	chr14	23549752	23549752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggatcttgttttgggtctCtcatccatcatctcctctgg	4	17	9	11	0	6	0	2	0	4	0	9	1	7	1	2	3	0	1	2	3	0	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:23549752C>G	ENST00000262710.1	-	6	1293	c.966G>C	c.(964-966)gaG>gaC	p.E322D	ACIN1_ENST00000605057.1_Missense_Mutation_p.E264D|ACIN1_ENST00000555053.1_Missense_Mutation_p.E322D|ACIN1_ENST00000457657.1_Missense_Mutation_p.E282D	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	322	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTTTGGGTCTCTCATCCATCA	0.463													30	83					0	0	0	0	G	23549752	C	G	23549752	3	3	270	1	0	0	0	0	1	0	0	0	142	912	32	2	3262	2	ACIN1	14	23549752	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1614	23549752	83799788	421	48409											
NYNRIN	57523	broad.mit.edu	37	chr14	24884017	24884017	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaggaggacgaccttgactCttcgctggcgtcagtgttca	7	11	13	10	3	3	2	2	2	1	0	4	5	3	4	1	3	0	2	1	3	0	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:24884017C>G	ENST00000382554.3	+	9	3380	c.3062C>G	c.(3061-3063)tCt>tGt	p.S1021C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1021					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GACCTTGACTCTTCGCTGGCG	0.607													22	35					0	0	0	0	G	24884017	C	G	24884017	3	3	270	1	0	0	0	0	1	0	0	0	10867	913	32	2	3092	2	NYNRIN	14	24884017	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1334265	24884017	82465523	422	48410											
WDHD1	11169	broad.mit.edu	37	chr14	55474026	55474026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttggctgccaagcaagtCtgcagattgattttgcattt	8	17	9	7	0	1	2	0	1	1	1	1	2	1	2	1	1	4	4	1	1	2	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:55474026C>T	ENST00000360586.3	-	7	637	c.572G>A	c.(571-573)aGa>aAa	p.R191K	WDHD1_ENST00000420358.2_Missense_Mutation_p.R68K|WDHD1_ENST00000421192.1_Missense_Mutation_p.R68K	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	191						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CCAAGCAAGTCTGCAGATTGA	0.318													6	26					0	0	0	0	T	55474026	C	T	55474026	3	4	270	1	0	0	0	0	1	0	0	0	17367	913	32	2	2897	2	WDHD1	14	55474026	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	30590009	55474026	51875514	423	48411											
ESR2	2100	broad.mit.edu	37	chr14	64746790	64746790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatcgctgcagacagcgcaGaagtgagcatccctctttga	11	9	10	11	2	1	4	0	2	1	2	3	4	2	4	1	0	3	4	1	0	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:64746790G>A	ENST00000557772.1	-	2	443	c.444C>T	c.(442-444)ttC>ttT	p.F148F	ESR2_ENST00000341099.4_Silent_p.F148F|ESR2_ENST00000267525.6_Silent_p.F148F|ESR2_ENST00000358599.5_Silent_p.F148F|ESR2_ENST00000357782.2_Silent_p.F148F|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000555278.1_Silent_p.F148F|ESR2_ENST00000554572.1_Silent_p.F148F|ESR2_ENST00000553796.1_Silent_p.F148F|ESR2_ENST00000542956.1_Silent_p.F148F|ESR2_ENST00000353772.3_Silent_p.F148F	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	148	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AGACAGCGCAGAAGTGAGCAT	0.478													39	190					0	0	0	0	A	64746790	G	A	64746790	2	1	270	1	0	0	0	0	0	0	0	1	5295	933	33	2		2	ESR2	14	64746790	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	9272764	64746790	42602750	424	48412											
NRXN3	9369	broad.mit.edu	37	chr14	79432618	79432618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaccaagagcagctacctGagccttgccactcttcaggc	11	7	9	14	0	2	3	1	1	1	2	2	3	2	3	4	1	5	2	4	1	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:79432618G>A	ENST00000554719.1	+	9	2018	c.1527G>A	c.(1525-1527)ctG>ctA	p.L509L	NRXN3_ENST00000335750.5_Silent_p.L509L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCAGCTACCTGAGCCTTGCCA	0.483													17	81					0	0	0	0	A	79432618	G	A	79432618	2	1	270	1	0	0	0	0	0	0	0	1	10738	1277	45	2		2	NRXN3	14	79432618	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	14685828	79432618	27916922	425	48413											
TRIP11	9321	broad.mit.edu	37	chr14	92469778	92469778	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacctgttctttctctttCaatagctgttcaaaagcaag	11	14	5	11	0	4	0	2	0	2	0	5	0	4	0	1	0	2	4	1	0	5	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92469778C>T	ENST00000267622.4	-	11	4915	c.4542G>A	c.(4540-4542)ttG>ttA	p.L1514L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1514					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTCTCTTTCAATAGCTGTT	0.378			T	PDGFRB	AML								6	52					0	0	0	0	T	92469778	C	T	92469778	2	4	270	1	0	0	0	0	0	0	0	1	16650	825	29	2		2	TRIP11	14	92469778	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	13037160	92469778	14879762	426	48414			3	73		15	13	1866	N	C	2.30452e-26
TRIP11	9321	broad.mit.edu	37	chr14	92469811	92469811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagcaagagccttctccttCattgagtggcactcaaactc	12	10	7	12	0	3	2	2	1	1	1	5	2	3	2	2	1	3	2	2	1	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92469811C>T	ENST00000267622.4	-	11	4882	c.4509G>A	c.(4507-4509)atG>atA	p.M1503I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1503			M -> V (in dbSNP:rs34839498).		transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CCTTCTCCTTCATTGAGTGGC	0.413			T	PDGFRB	AML								15	64					0	0	0	0	T	92469811	C	T	92469811	3	4	270	1	0	0	0	0	1	0	0	0	16650	826	29	2	1474	2	TRIP11	14	92469811	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	33	92469811	14879729	427	48415			3	73		15	13	1866	N	C	2.30452e-26
TRIP11	9321	broad.mit.edu	37	chr14	92469841	92469841	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaaactctttttctcgCagcatcatagaaaacttcat	13	13	3	12	1	5	1	3	0	2	1	6	1	5	1	0	0	3	2	0	0	4	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92469841C>T	ENST00000267622.4	-	11	4852	c.4479G>A	c.(4477-4479)ctG>ctA	p.L1493L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1493					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTTTCTCGCAGCATCATAG	0.378			T	PDGFRB	AML								20	92					0	0	0	0	T	92469841	C	T	92469841	2	4	270	1	0	0	0	0	0	0	0	1	16650	697	25	4		4	TRIP11	14	92469841	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	30	92469841	14879699	428	48416			3	73		15	13	1866	N	C	2.30452e-26
TRIP11	9321	broad.mit.edu	37	chr14	92470322	92470322	+	Missense_Mutation	SNP	C	C	T																															cactcaatacttcagacttaCttgctctaagacactctgca																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470322C>T	ENST00000267622.4	-	11	4371	c.3998G>A	c.(3997-3999)aGt>aAt	p.S1333N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1333					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCAGACTTACTTGCTCTAAG	0.383			T	PDGFRB	AML								12	59					0	0	0	0	T	92470322	C	T	92470322	3	4	270	1	0	0	0	0	1	0	0	0	16650	565	20	4	1985	4	TRIP11	14	92470322	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	481	92470322	14879218	429	48417	372	2	3	73		15	13	1866	N	C	2.30452e-26
TRIP11	9321	broad.mit.edu	37	chr14	92470328	92470328	+	Missense_Mutation	SNP	C	C	G																															atacttcagacttacttgctCtaagacactctgcagactgg																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470328C>G	ENST00000267622.4	-	11	4365	c.3992G>C	c.(3991-3993)aGa>aCa	p.R1331T		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1331					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTACTTGCTCTAAGACACTC	0.383			T	PDGFRB	AML								9	57					0	0	0	0	G	92470328	C	G	92470328	3	3	270	1	0	0	0	0	1	0	0	0	16650	913	32	2	1991	2	TRIP11	14	92470328	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	6	92470328	14879212	430	48418	372	2	3	73		15	13	1866	N	C	2.30452e-26
TRIP11	9321	broad.mit.edu	37	chr14	92470587	92470587	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttgaagttggtgaagctCttcctgaagctgggctgact	7	13	13	8	0	1	4	0	4	1	0	2	4	2	4	1	2	3	5	1	2	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470587C>G	ENST00000267622.4	-	11	4106	c.3733G>C	c.(3733-3735)Gag>Cag	p.E1245Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1245					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGGTGAAGCTCTTCCTGAAGC	0.408			T	PDGFRB	AML								8	39					0	0	0	0	G	92470587	C	G	92470587	3	3	270	1	0	0	0	0	1	0	0	0	16650	922	32	2	2250	2	TRIP11	14	92470587	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	259	92470587	14878953	431	48419			3	73		15	13	1866	N	C	2.30452e-26
TRIP11	9321	broad.mit.edu	37	chr14	92470704	92470704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcacgttcctgtagaagctCctcaaattgattactattaa	12	14	6	9	1	2	2	2	1	0	1	4	2	4	2	2	0	2	3	2	0	6	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470704C>T	ENST00000267622.4	-	11	3989	c.3616G>A	c.(3616-3618)Gag>Aag	p.E1206K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1206					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGTAGAAGCTCCTCAAATTGA	0.398			T	PDGFRB	AML								16	64					0	0	0	0	T	92470704	C	T	92470704	3	4	270	1	0	0	0	0	1	0	0	0	16650	864	30	2	2367	2	TRIP11	14	92470704	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	117	92470704	14878836	432	48420			3	73		15	13	1866	N	C	2.30452e-26
TRIP11	9321	broad.mit.edu	37	chr14	92471001	92471001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctattttccctagtcttctCattcaaaacagcaaatacct	12	14	3	12	0	3	0	2	0	2	0	5	0	4	0	2	0	3	2	2	0	6	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471001C>T	ENST00000267622.4	-	11	3692	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1107			E -> D (in dbSNP:rs4619320).		transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTAGTCTTCTCATTCAAAACA	0.363			T	PDGFRB	AML								13	35					0	0	0	0	T	92471001	C	T	92471001	3	4	270	1	0	0	0	0	1	0	0	0	16650	835	29	2	2664	2	TRIP11	14	92471001	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	297	92471001	14878539	433	48421			3	73		15	13	1866	N	C	2.30452e-26
TRIP11	9321	broad.mit.edu	37	chr14	92471131	92471131	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttgtatctccaaatctttCtgctgaataatctgagttag	10	16	7	8	0	4	2	0	2	4	0	5	2	4	2	1	0	1	4	1	0	5	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471131C>T	ENST00000267622.4	-	11	3562	c.3189G>A	c.(3187-3189)caG>caA	p.Q1063Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1063					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CCAAATCTTTCTGCTGAATAA	0.343			T	PDGFRB	AML								14	42					0	0	0	0	T	92471131	C	T	92471131	2	4	270	1	0	0	0	0	0	0	0	1	16650	912	32	2		2	TRIP11	14	92471131	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	130	92471131	14878409	434	48422			3	73		15	13	1866	N	C	2.30452e-26
TRIP11	9321	broad.mit.edu	37	chr14	92471181	92471181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatctttggacaactgatCaatctgtttagttaaagata	13	16	6	6	0	4	2	2	1	2	1	4	3	4	3	0	1	1	2	0	1	6	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471181C>G	ENST00000267622.4	-	11	3512	c.3139G>C	c.(3139-3141)Gat>Cat	p.D1047H		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1047					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GACAACTGATCAATCTGTTTA	0.328			T	PDGFRB	AML								9	41					0	0	0	0	G	92471181	C	G	92471181	3	3	270	1	0	0	0	0	1	0	0	0	16650	826	29	2	2844	2	TRIP11	14	92471181	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	50	92471181	14878359	435	48423			3	73		15	13	1866	N	C	2.30452e-26
TRIP11	9321	broad.mit.edu	37	chr14	92471470	92471470	+	Missense_Mutation	SNP	C	C	T																															agctgggtgtgtgtggcgttCatttgctcatgctggtatct																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471470C>T	ENST00000267622.4	-	11	3223	c.2850G>A	c.(2848-2850)atG>atA	p.M950I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	950					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GTGTGGCGTTCATTTGCTCAT	0.368			T	PDGFRB	AML								15	113					0	0	0	0	T	92471470	C	T	92471470	3	4	270	1	0	0	0	0	1	0	0	0	16650	826	29	2	3133	2	TRIP11	14	92471470	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	289	92471470	14878070	436	48424	373	2	3	73		15	13	1866	N	C	2.30452e-26
TRIP11	9321	broad.mit.edu	37	chr14	92471478	92471478	+	Missense_Mutation	SNP	C	C	T																															gtgtgtggcgttcatttgctCatgctggtatctaaactcat																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471478C>T	ENST00000267622.4	-	11	3215	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	948					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCATTTGCTCATGCTGGTAT	0.363			T	PDGFRB	AML								15	106					0	0	0	0	T	92471478	C	T	92471478	3	4	270	1	0	0	0	0	1	0	0	0	16650	835	29	2	3141	2	TRIP11	14	92471478	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	8	92471478	14878062	437	48425	373	2	3	73		15	13	1866	N	C	2.30452e-26
TRIP11	9321	broad.mit.edu	37	chr14	92471517	92471517	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccatttccttcttttgctCttgtaaagactgaagtagtt	9	18	6	8	0	2	2	0	1	2	1	4	2	4	2	2	0	1	4	2	0	4	8			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471517C>G	ENST00000267622.4	-	11	3176	c.2803G>C	c.(2803-2805)Gag>Cag	p.E935Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	935					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCTTTTGCTCTTGTAAAGAC	0.368			T	PDGFRB	AML								15	107					0	0	0	0	G	92471517	C	G	92471517	3	3	270	1	0	0	0	0	1	0	0	0	16650	922	32	2	3180	2	TRIP11	14	92471517	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	39	92471517	14878023	438	48426			3	73		15	13	1866	N	C	2.30452e-26
TRIP11	9321	broad.mit.edu	37	chr14	92471562	92471562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttactctggttttgatcttCaattatcttttgatgatgtt	7	22	6	6	0	4	3	1	3	3	0	4	3	4	3	0	1	1	2	0	1	3	8			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471562C>T	ENST00000267622.4	-	11	3131	c.2758G>A	c.(2758-2760)Gaa>Aaa	p.E920K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	920					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTTGATCTTCAATTATCTTT	0.373			T	PDGFRB	AML								24	86					0	0	0	0	T	92471562	C	T	92471562	3	4	270	1	0	0	0	0	1	0	0	0	16650	835	29	2	3225	2	TRIP11	14	92471562	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	45	92471562	14877978	439	48427			3	73		15	13	1866	N	C	2.30452e-26
TRIP11	9321	broad.mit.edu	37	chr14	92471643	92471643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatacctcagatgctagttCagtaacactatcaagggttt	13	12	8	8	0	3	2	3	0	0	2	3	2	3	2	1	1	3	4	1	1	5	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471643C>T	ENST00000267622.4	-	11	3050	c.2677G>A	c.(2677-2679)Gaa>Aaa	p.E893K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	893					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GATGCTAGTTCAGTAACACTA	0.403			T	PDGFRB	AML								18	89					0	0	0	0	T	92471643	C	T	92471643	3	4	270	1	0	0	0	0	1	0	0	0	16650	835	29	2	3306	2	TRIP11	14	92471643	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	81	92471643	14877897	440	48428			3	73		15	13	1866	N	C	2.30452e-26
TRIP11	9321	broad.mit.edu	37	chr14	92488028	92488028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcgtcatggaaagctgaagGatgatgactaatcccataag	15	9	10	7	1	1	3	1	3	0	0	3	5	2	5	1	2	1	1	1	2	4	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92488028G>A	ENST00000267622.4	-	4	833	c.460C>T	c.(460-462)Cct>Tct	p.P154S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	154					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAGCTGAAGGATGATGACTA	0.433			T	PDGFRB	AML								11	44					0	0	0	0	A	92488028	G	A	92488028	3	1	270	1	0	0	0	0	1	0	0	0	16650	1174	41	2	5551	2	TRIP11	14	92488028	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	16385	92488028	14861512	441	48429											
RIN3	79890	broad.mit.edu	37	chr14	93022127	93022127	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttggcaaaggagaggaaGaggaagaggaagatggcatg	15	6	18	2	0	0	4	0	0	0	4	0	8	0	7	0	6	0	3	0	6	4	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:93022127G>C	ENST00000216487.7	+	2	235	c.76G>C	c.(76-78)Gag>Cag	p.E26Q		NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	26	Poly-Glu.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGGAGAGGAAGAGGAAGAGGA	0.517													14	22					0	0	0	0	C	93022127	G	C	93022127	3	2	270	1	0	0	0	0	1	0	0	0	13458	943	33	2	82	2	RIN3	14	93022127	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	534099	93022127	14327413	442	48430											
YY1	7528	broad.mit.edu	37	chr14	100743853	100743853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccctatgtgtgccccttCgatggttgtaataagaagtt	9	13	11	8	1	0	1	0	0	0	1	1	2	0	1	3	2	1	3	3	2	4	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:100743853C>T	ENST00000262238.4	+	5	1421	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	387	Involved in masking transactivation domain.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				TGTGCCCCTTCGATGGTTGTA	0.458													18	50					0	0	0	0	T	100743853	C	T	100743853	2	4	270	1	0	0	0	0	0	0	0	1	17603	883	31	1		1	YY1	14	100743853	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	7721726	100743853	6605687	443	48431											
RCOR1	23186	broad.mit.edu	37	chr14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatggatcgccatgcccGgaaacaaaaacgggagcggg	12	5	15	9	4	0	1	0	1	0	0	1	4	0	4	2	4	4	0	2	4	3	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:103174893G>A	ENST00000262241.6	+	6	978	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463													4	144					0	0	0	0	A	103174893	G	A	103174893	3	1	270	1	0	0	0	0	1	0	0	0	13264	1116	39	1	765	1	RCOR1	14	103174893	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2431040	103174893	4174647	444	48432											
PPP1R13B	23368	broad.mit.edu	37	chr14	104245125	104245125	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtacatttattacatttCtctgagttcgttgctcttgg	7	18	8	8	1	2	1	0	1	2	0	4	1	2	1	0	2	3	4	0	2	3	8			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:104245125C>G	ENST00000202556.9	-	4	593	c.311G>C	c.(310-312)aGa>aCa	p.R104T		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	104					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TATTACATTTCTCTGAGTTCG	0.363													17	42					0	0	0	0	G	104245125	C	G	104245125	3	3	270	1	0	0	0	0	1	0	0	0	12433	913	32	2	3017	2	PPP1R13B	14	104245125	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1070232	104245125	3104415	445	48433											
BTBD6	90135	broad.mit.edu	37	chr14	105716079	105716079	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattggcaaaagcctgtgtCaactttctggagacaagttt	11	12	10	8	0	2	1	1	0	1	1	2	2	2	1	1	2	2	3	1	2	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:105716079C>T	ENST00000463376.2	+	3	844	c.303C>T	c.(301-303)gtC>gtT	p.V101V	BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000327471.3_Silent_p.V101V|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000536364.1_Silent_p.V176V|BTBD6_ENST00000392554.3_Silent_p.V176V|BRF1_ENST00000379937.2_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	176	BTB.					cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		AAGCCTGTGTCAACTTTCTGG	0.567													6	62					0	0	0	0	T	105716079	C	T	105716079	2	4	270	1	0	0	0	0	0	0	0	1	1554	813	29	2		2	BTBD6	14	105716079	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1470954	105716079	1633461	446	48434											
BTBD6	90135	broad.mit.edu	37	chr14	105716585	105716585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaccgattccagtcttctgCctaccgcagcaaccagtggc	8	8	8	17	2	2	0	0	0	2	0	3	1	3	0	6	1	4	2	6	1	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:105716585C>A	ENST00000463376.2	+	3	1350	c.809C>A	c.(808-810)gCc>gAc	p.A270D	BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.A270D|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.A345D|BTBD6_ENST00000392554.3_Missense_Mutation_p.A345D|BRF1_ENST00000379937.2_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	345						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CAGTCTTCTGCCTACCGCAGC	0.622													18	57					3.52763e-06	3.6798e-06	1	0	A	105716585	C	A	105716585	3	1	270	1	0	0	0	0	1	0	0	0	1554	739	26	4	1048	4	BTBD6	14	105716585	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	506	105716585	1632955	447	48435											
TUBGCP5	114791	broad.mit.edu	37	chr15	22850972	22850972	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattgtctcagctcaaggttCtgcacaaagtgtttagtact	10	14	9	8	0	3	0	2	0	2	0	4	1	3	0	0	1	3	5	0	1	4	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:22850972C>T	ENST00000283645.4	+	11	1364	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.L412L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	412					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GCTCAAGGTTCTGCACAAAGT	0.448													21	43					0	0	0	0	T	22850972	C	T	22850972	2	4	270	1	0	0	0	0	0	0	0	1	16865	912	32	2		2	TUBGCP5	15	22850972	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08		22850972	79680420	448	48436											
CYFIP1	23191	broad.mit.edu	37	chr15	22935917	22935917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagtaacatctataagttgGatgccaagaaaagaataaac	19	9	7	6	0	2	2	1	0	1	2	2	3	2	3	1	1	3	2	1	1	9	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:22935917G>A	ENST00000313077.7	+	9	978	c.853G>A	c.(853-855)Gat>Aat	p.D285N	CYFIP1_ENST00000560848.1_Missense_Mutation_p.D285N	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	285					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTATAAGTTGGATGCCAAGAA	0.368													5	26					0	0	0	0	A	22935917	G	A	22935917	3	1	270	1	0	0	0	0	1	0	0	0	4169	1174	41	2	883	2	CYFIP1	15	22935917	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	84945	22935917	79595475	449	48437											
HERC2	8924	broad.mit.edu	37	chr15	28463722	28463722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctgcatgatctcagcatGaactccagcagacagacaaa	14	7	8	12	0	2	4	1	2	2	2	4	4	3	4	1	0	4	4	1	0	2	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:28463722G>A	ENST00000261609.7	-	38	6049	c.5941C>T	c.(5941-5943)Cat>Tat	p.H1981Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1981					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATCTCAGCATGAACTCCAGCA	0.458													37	71					0	0	0	0	A	28463722	G	A	28463722	3	1	270	1	0	0	0	0	1	0	0	0	7108	1290	45	2	8787	2	HERC2	15	28463722	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	5527805	28463722	74067670	450	48438											
TRPM1	4308	broad.mit.edu	37	chr15	31338418	31338418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctacttacttccattcccaGaagtttaagagctttaggct	10	15	6	10	0	1	2	0	0	1	2	3	2	3	2	2	1	3	3	2	1	5	8			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:31338418G>C	ENST00000542188.1	-	15	2147	c.1834C>G	c.(1834-1836)Ctg>Gtg	p.L612V	TRPM1_ENST00000397795.2_Missense_Mutation_p.L573V|TRPM1_ENST00000256552.6_Missense_Mutation_p.L595V	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	573					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCCATTCCCAGAAGTTTAAGA	0.313													11	25					0	0	0	0	C	31338418	G	C	31338418	3	2	270	1	0	0	0	0	1	0	0	0	16680	933	33	2	3146	2	TRPM1	15	31338418	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2874696	31338418	71192974	451	48439											
C15orf57	90416	broad.mit.edu	37	chr15	40849428	40849428	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgattacctctcatcagaatCaagtccatccacaaagaact	15	9	4	13	1	3	2	3	0	1	2	6	3	5	2	3	0	2	0	3	0	5	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:40849428C>G	ENST00000358005.3	-	3	661	c.388G>C	c.(388-390)Gat>Cat	p.D130H	C15orf57_ENST00000561011.1_Missense_Mutation_p.D130H|C15orf57_ENST00000560305.1_Missense_Mutation_p.D130H|C15orf57_ENST00000559911.1_Missense_Mutation_p.D130H|RP11-111A22.1_ENST00000561460.1_RNA|C15orf57_ENST00000558750.1_Missense_Mutation_p.D139H|C15orf57_ENST00000416810.2_Missense_Mutation_p.D130H|C15orf57_ENST00000558871.1_Missense_Mutation_p.D130H|C15orf57_ENST00000558113.1_Missense_Mutation_p.D130H	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	130										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						TCATCAGAATCAAGTCCATCC	0.438													12	26					0	0	0	0	G	40849428	C	G	40849428	3	3	270	1	0	0	0	0	1	0	0	0	1817	826	29	2	177	2	C15orf57	15	40849428	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	9511010	40849428	61681964	452	48440											
MAP1A	4130	broad.mit.edu	37	chr15	43815940	43815940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcagatgaggagatccatGatgagccggaggagcgccca	11	6	14	10	2	1	5	1	3	1	2	3	8	2	7	3	3	2	0	3	3	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:43815940G>A	ENST00000382031.1	+	5	3014	c.2983G>A	c.(2983-2985)Gat>Aat	p.D995N	MAP1A_ENST00000399453.1_Missense_Mutation_p.D757N|MAP1A_ENST00000300231.5_Missense_Mutation_p.D757N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	757						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGATCCATGATGAGCCGGA	0.562													11	16					0	0	0	0	A	43815940	G	A	43815940	3	1	270	1	0	0	0	0	1	0	0	0	9296	1290	45	2	2271	2	MAP1A	15	43815940	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2966512	43815940	58715452	453	48441											
SLTM	79811	broad.mit.edu	37	chr15	59181735	59181735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttctcgagcaatccgttCagcttccttacgacgttcct	6	15	6	14	4	3	0	1	0	2	0	7	2	6	0	3	0	3	4	3	0	2	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:59181735C>T	ENST00000380516.2	-	16	2185	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	SLTM_ENST00000536328.1_Missense_Mutation_p.E269K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	700	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCAATCCGTTCAGCTTCCTTA	0.408													14	23					0	0	0	0	T	59181735	C	T	59181735	3	4	270	1	0	0	0	0	1	0	0	0	14842	835	29	2	1030	2	SLTM	15	59181735	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	15365795	59181735	43349657	454	48442											
VPS13C	54832	broad.mit.edu	37	chr15	62228879	62228879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtgtagggcttggttgtGaggaagcttctccaagattt	8	14	13	6	0	1	2	0	1	1	1	2	3	1	3	1	3	1	4	1	3	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:62228879G>A	ENST00000261517.5	-	48	5745	c.5672C>T	c.(5671-5673)tCa>tTa	p.S1891L	VPS13C_ENST00000395896.4_Missense_Mutation_p.S1891L|VPS13C_ENST00000249837.3_Missense_Mutation_p.S1848L|VPS13C_ENST00000395898.3_Missense_Mutation_p.S1848L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1891					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCTTGGTTGTGAGGAAGCTTC	0.373													8	18					0	0	0	0	A	62228879	G	A	62228879	3	1	270	1	0	0	0	0	1	0	0	0	17287	1294	45	2	5769	2	VPS13C	15	62228879	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3047144	62228879	40302513	455	48443											
HERC1	8925	broad.mit.edu	37	chr15	63986220	63986220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttttttttcttcttcttCaccgtcttcttgctcccctt	3	22	2	14	1	6	0	1	0	5	0	7	0	7	0	3	0	2	1	3	0	1	10			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:63986220C>T	ENST00000443617.2	-	30	5704	c.5617G>A	c.(5617-5619)Gaa>Aaa	p.E1873K	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1873					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						tcttcttcttcaccgtcttct	0.393													3	8					0	0	0	0	T	63986220	C	T	63986220	3	4	270	1	0	0	0	0	1	0	0	0	7107	835	29	2	9164	2	HERC1	15	63986220	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1757341	63986220	38545172	456	48444											
PLEKHO2	80301	broad.mit.edu	37	chr15	65152104	65152104	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcccacaggtcagcgacatCaaattccaggcacccaccgg	11	5	9	16	2	2	0	2	0	0	0	3	1	3	0	4	3	2	1	4	3	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:65152104C>G	ENST00000323544.4	+	4	419	c.291C>G	c.(289-291)atC>atG	p.I97M	AC069368.3_ENST00000437723.1_Missense_Mutation_p.I97M	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	97	PH.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCAGCGACATCAAATTCCAGG	0.488													37	157					0	0	0	0	G	65152104	C	G	65152104	3	3	270	1	0	0	0	0	1	0	0	0	12157	816	29	2	305	2	PLEKHO2	15	65152104	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1165884	65152104	37379288	457	48445											
UACA	55075	broad.mit.edu	37	chr15	70959538	70959538	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctctgccaggggtacagaaGagttcttttgattctccaac	9	12	10	10	0	3	3	0	1	3	2	4	3	3	3	2	2	3	3	2	2	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:70959538G>C	ENST00000322954.6	-	16	3670	c.3485C>G	c.(3484-3486)tCt>tGt	p.S1162C	UACA_ENST00000539319.1_Missense_Mutation_p.S1053C|UACA_ENST00000560441.1_Missense_Mutation_p.S1147C|UACA_ENST00000379983.2_Missense_Mutation_p.S1149C	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1162						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GGGTACAGAAGAGTTCTTTTG	0.398													64	134					0	0	0	0	C	70959538	G	C	70959538	3	2	270	1	0	0	0	0	1	0	0	0	16920	942	33	2	781	2	UACA	15	70959538	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	5807434	70959538	31571854	458	48446											
GRAMD2	196996	broad.mit.edu	37	chr15	72460095	72460095	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgatatccttgccaaaGaggctggcatggaagcagag	12	8	12	9	0	0	3	0	1	0	2	1	4	1	4	3	3	2	3	3	3	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:72460095G>T	ENST00000309731.7	-	5	367	c.354C>A	c.(352-354)ctC>ctA	p.L118L		NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	118	GRAM.					integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CCTTGCCAAAGAGGCTGGCAT	0.597													16	63					6.94344e-10	7.42744e-10	1	0	T	72460095	G	T	72460095	2	4	270	1	0	0	0	0	0	0	0	1	6800	929	33	2		2	GRAMD2	15	72460095	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1500557	72460095	30071297	459	48447											
CELF6	60677	broad.mit.edu	37	chr15	72582528	72582528	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatgtggccaaagggctGgaacaggcgtctgacgtcct	8	8	14	11	3	1	1	0	1	1	0	3	3	2	2	2	4	1	1	2	4	2	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:72582528G>A	ENST00000287202.5	-	4	717	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	CELF6_ENST00000539635.1_Nonsense_Mutation_p.Q16*|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Nonsense_Mutation_p.Q155*|CELF6_ENST00000395258.2_Nonsense_Mutation_p.Q42*|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000543764.2_Nonsense_Mutation_p.Q40*	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	155	RRM 2.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CCAAAGGGCTGGAACAGGCGT	0.617													12	27					0	0	0	0	A	72582528	G	A	72582528	4	1	270	1	0	0	0	0	0	1	0	0	3249	1357	47	4	1018	4	CELF6	15	72582528	Nonsense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	122433	72582528	29948864	460	48448											
HEXA	3073	broad.mit.edu	37	chr15	72643480	72643480	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgggaacatacctttctCatgagctctggaaaagtgaa	15	9	9	8	1	2	2	1	2	2	0	3	4	2	4	1	2	4	1	1	2	6	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:72643480C>A	ENST00000268097.5	-	6	1169	c.666G>T	c.(664-666)atG>atT	p.M222I	RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000457859.2_Missense_Mutation_p.M30I|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.M49I|HEXA_ENST00000567159.1_Missense_Mutation_p.M222I|HEXA_ENST00000566304.1_Missense_Mutation_p.M233I	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	222					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ATACCTTTCTCATGAGCTCTG	0.468													10	38					7.03913e-09	7.48963e-09	1	0	A	72643480	C	A	72643480	3	1	270	1	0	0	0	0	1	0	0	0	7123	826	29	2	959	2	HEXA	15	72643480	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	60952	72643480	29887912	461	48449											
BBS4	585	broad.mit.edu	37	chr15	73002044	73002044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatatgctgcctagctcCagagtttcctattttggaga	11	13	8	9	0	0	2	0	0	0	2	2	3	2	2	3	1	3	3	3	1	5	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:73002044C>T	ENST00000268057.4	+	3	121	c.80C>T	c.(79-81)cCa>cTa	p.P27L	BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.P35L|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.P15L	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	27	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TGCCTAGCTCCAGAGTTTCCT	0.358									Bardet-Biedl syndrome				25	90					0	0	0	0	T	73002044	C	T	73002044	3	4	270	1	0	0	0	0	1	0	0	0	1343	594	21	4	90	4	BBS4	15	73002044	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	358564	73002044	29529348	462	48450											
CHRNA3	1136	broad.mit.edu	37	chr15	78894511	78894511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtcacgtcgattttacagGagctcttaaagatggccgga	11	10	12	8	3	2	1	1	0	1	1	3	4	2	3	1	4	2	1	1	4	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:78894511G>T	ENST00000326828.5	-	5	857	c.473C>A	c.(472-474)tCc>tAc	p.S158Y	CHRNA3_ENST00000348639.3_Missense_Mutation_p.S158Y	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	158					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GATTTTACAGGAGCTCTTAAA	0.493													6	93					3.59834e-05	3.73403e-05	1	0	T	78894511	G	T	78894511	3	4	270	1	0	0	0	0	1	0	0	0	3413	1174	41	2	1137	2	CHRNA3	15	78894511	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	5892467	78894511	23636881	463	48451											
RASGRF1	5923	broad.mit.edu	37	chr15	79296198	79296198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaggggtcgtatcgccctCatctggaatcttgttggtga	6	13	12	10	2	4	1	2	1	2	0	6	2	4	2	1	4	0	2	1	4	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:79296198C>T	ENST00000419573.3	-	16	2717	c.2443G>A	c.(2443-2445)Gag>Aag	p.E815K	RASGRF1_ENST00000558480.2_Missense_Mutation_p.E799K|RASGRF1_ENST00000394745.3_Missense_Mutation_p.E31K|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	817					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTATCGCCCTCATCTGGAATC	0.607													14	38					0	0	0	0	T	79296198	C	T	79296198	3	4	270	1	0	0	0	0	1	0	0	0	13154	835	29	2	1430	2	RASGRF1	15	79296198	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	401687	79296198	23235194	464	48452											
HOMER2	9455	broad.mit.edu	37	chr15	83518566	83518566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctcttcaactccaccttCaggtggcgctgtcggtattt	7	13	9	12	2	3	0	2	0	1	0	5	0	4	0	2	3	2	3	2	3	3	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:83518566C>T	ENST00000304231.8	-	9	1158	c.966G>A	c.(964-966)ctG>ctA	p.L322L	HOMER2_ENST00000450735.2_Silent_p.L311L|HOMER2_ENST00000426485.1_Silent_p.L267L|HOMER2_ENST00000399166.2_Silent_p.L256L	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	322					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						ACTCCACCTTCAGGTGGCGCT	0.547											OREG0023389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	55					0	0	0	0	T	83518566	C	T	83518566	2	4	270	1	0	0	0	0	0	0	0	1	7329	813	29	2		2	HOMER2	15	83518566	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	4222368	83518566	19012826	465	48453											
BTBD1	53339	broad.mit.edu	37	chr15	83687528	83687528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttccttgaacatgaccctGaatgtgttagctgtcccatc	8	13	9	11	0	0	3	0	3	0	0	3	3	2	3	3	1	2	3	3	1	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:83687528G>A	ENST00000379403.2	-	6	1132	c.1133C>T	c.(1132-1134)tCa>tTa	p.S378L	RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000261721.4_Silent_p.F407F|RP11-382A20.7_ENST00000570202.1_RNA			Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	0						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ACATGACCCTGAATGTGTTAG	0.418													13	48					0	0	0	0	A	83687528	G	A	83687528	3	1	270	1	0	0	0	0	1	0	0	0	1545	1294	45	2	235	2	BTBD1	15	83687528	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	168962	83687528	18843864	466	48454											
ALPK3	57538	broad.mit.edu	37	chr15	85370749	85370749	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatcattgctcagctcacaGaggagacccagccgctattt	10	9	8	14	1	3	2	3	0	0	2	3	3	3	2	3	1	3	3	3	1	1	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:85370749G>C	ENST00000258888.5	+	3	990	c.823G>C	c.(823-825)Gag>Cag	p.E275Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	275					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCAGCTCACAGAGGAGACCCA	0.562													6	46					0	0	0	0	C	85370749	G	C	85370749	3	2	270	1	0	0	0	0	1	0	0	0	546	943	33	2	833	2	ALPK3	15	85370749	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1683221	85370749	17160643	467	48455											
ALPK3	57538	broad.mit.edu	37	chr15	85405874	85405874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttccccttcagttggagaaGagattgagatgacccctatg	10	11	11	9	0	1	4	1	2	0	3	2	7	2	4	4	1	0	2	4	1	2	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:85405874G>A	ENST00000258888.5	+	10	4911	c.4744G>A	c.(4744-4746)Gag>Aag	p.E1582K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1582					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGTTGGAGAAGAGATTGAGAT	0.572													19	58					0	0	0	0	A	85405874	G	A	85405874	3	1	270	1	0	0	0	0	1	0	0	0	546	943	33	2	4782	2	ALPK3	15	85405874	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	35125	85405874	17125518	468	48456											
ALPK3	57538	broad.mit.edu	37	chr15	85407691	85407691	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatcatcccactgtatctGatctaccggcctgcaaacaa	12	9	7	13	1	3	1	1	1	2	0	4	2	4	2	3	2	3	2	3	2	4	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:85407691G>A	ENST00000258888.5	+	12	5291	c.5124G>A	c.(5122-5124)ctG>ctA	p.L1708L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1708	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACTGTATCTGATCTACCGGC	0.527													35	59					0	0	0	0	A	85407691	G	A	85407691	2	1	270	1	0	0	0	0	0	0	0	1	546	1277	45	2		2	ALPK3	15	85407691	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1817	85407691	17123701	469	48457											
AKAP13	11214	broad.mit.edu	37	chr15	86118486	86118486	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctgagtctgattcacatCatgaacacccatttcctgga	10	12	6	13	0	4	3	2	3	2	0	5	4	5	4	3	1	1	0	3	1	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:86118486C>G	ENST00000394518.2	+	6	882	c.787C>G	c.(787-789)Cat>Gat	p.H263D	AKAP13_ENST00000361243.2_Missense_Mutation_p.H263D	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	263					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGATTCACATCATGAACACCC	0.393													33	91					0	0	0	0	G	86118486	C	G	86118486	3	3	270	1	0	0	0	0	1	0	0	0	449	826	29	2	805	2	AKAP13	15	86118486	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	710795	86118486	16412906	470	48458											
CRTC3	64784	broad.mit.edu	37	chr15	91161162	91161162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagagaatctgttaaatgttCcgaagccactgccaaaacaa	17	8	7	9	1	1	1	0	0	1	1	2	3	2	1	3	0	3	2	3	0	8	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:91161162C>T	ENST00000420329.2	+	8	808	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	CRTC3_ENST00000268184.6_Missense_Mutation_p.P221S	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	221					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GTTAAATGTTCCGAAGCCACT	0.438			T	MAML2	salivary gland mucoepidermoid								12	47					0	0	0	0	T	91161162	C	T	91161162	3	4	270	1	0	0	0	0	1	0	0	0	3931	855	30	2	691	2	CRTC3	15	91161162	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	5042676	91161162	11370230	471	48459											
MAN2A2	4122	broad.mit.edu	37	chr15	91448544	91448544	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttttggaggagaaccatGagattatcagccatatcaag	14	10	10	7	0	2	2	2	1	0	2	2	5	2	3	2	2	3	1	2	2	4	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:91448544G>T	ENST00000360468.3	+	2	214	c.196G>T	c.(196-198)Gag>Tag	p.E66*	MAN2A2_ENST00000559717.1_Nonsense_Mutation_p.E66*	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	66					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGAGAACCATGAGATTATCAG	0.547													25	83					1.55469e-16	1.70418e-16	1	0	T	91448544	G	T	91448544	4	4	270	1	0	0	0	0	0	1	0	0	9284	1291	45	2	202	2	MAN2A2	15	91448544	Nonsense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	287382	91448544	11082848	472	48460											
IGF1R	3480	broad.mit.edu	37	chr15	99459287	99459287	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctgcccaacggcaacctGagttactacattgtgcgctg	8	11	9	13	2	1	1	0	1	1	0	2	1	1	1	2	1	6	3	2	1	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:99459287G>C	ENST00000268035.6	+	9	2534	c.1923G>C	c.(1921-1923)ctG>ctC	p.L641L	IGF1R_ENST00000558762.1_Silent_p.L641L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	641	Fibronectin type-III 2.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ACGGCAACCTGAGTTACTACA	0.557													33	105					0	0	0	0	C	99459287	G	C	99459287	2	2	270	1	0	0	0	0	0	0	0	1	7624	1277	45	2		2	IGF1R	15	99459287	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	8010743	99459287	3072105	473	48461											
RHBDF1	64285	broad.mit.edu	37	chr16	111984	111984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgctcaccacctcctgtcgGagccgcaccttgggctgcgg	4	8	13	16	3	1	0	1	0	0	0	3	1	2	1	5	3	3	3	5	3	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:111984G>A	ENST00000262316.6	-	8	1162	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L	RHBDF1_ENST00000454039.2_Silent_p.L340L	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	340					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CCTCCTGTCGGAGCCGCACCT	0.741													7	10					0	0	0	0	A	111984	G	A	111984	2	1	270	1	0	0	0	0	0	0	0	1	13402	1161	41	2		2	RHBDF1	16	111984	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08		111984	90242769	474	48462											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1797130	1797130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccacatcctccgtgccctCggccgccgtcacacccctca	5	6	7	23	4	2	0	2	0	0	0	5	0	4	0	8	1	1	0	8	1	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:1797130C>T	ENST00000250894.4	+	6	1002	c.845C>T	c.(844-846)tCg>tTg	p.S282L	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.S282L|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	282					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|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						TCCGTGCCCTCGGCCGCCGTC	0.672													30	54					0	0	0	0	T	1797130	C	T	1797130	3	4	270	1	0	0	0	0	1	0	0	0	9355	893	31	1	867	1	MAPK8IP3	16	1797130	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1685146	1797130	88557623	475	48463											
C16orf89	146556	broad.mit.edu	37	chr16	5112511	5112511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccccagcatccccacGcgcaggctcagcggctgcag	6	6	10	19	3	2	0	1	0	1	0	4	0	3	0	4	2	3	5	4	2	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:5112511G>A	ENST00000315997.5	-	2	474	c.273C>T	c.(271-273)cgC>cgT	p.R91R	C16orf89_ENST00000474471.3_Silent_p.R91R|C16orf89_ENST00000472572.3_Silent_p.R91R|C16orf89_ENST00000422873.1_Silent_p.R129R|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_Silent_p.R129R	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	91						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GCATCCCCACGCGCAGGCTCA	0.572													22	59					0	0	0	0	A	5112511	G	A	5112511	2	1	270	1	0	0	0	0	0	0	0	1	1855	1074	38	1		1	C16orf89	16	5112511	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3315381	5112511	85242242	476	48464											
ABAT	18	broad.mit.edu	37	chr16	8873373	8873373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcagcagggtgagaggacGaggcaccttttgctccttcg	8	9	13	11	2	1	1	1	1	0	1	3	4	2	2	2	3	2	3	2	3	0	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:8873373G>A	ENST00000396600.2	+	15	2245	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	ABAT_ENST00000268251.8_Missense_Mutation_p.R436Q|ABAT_ENST00000425191.2_Missense_Mutation_p.R436Q|ABAT_ENST00000567812.1_Missense_Mutation_p.R451Q|ABAT_ENST00000569156.1_Missense_Mutation_p.R436Q	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	436					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GTGAGAGGACGAGGCACCTTT	0.532													8	51					0	0	0	0	A	8873373	G	A	8873373	3	1	270	1	0	0	0	0	1	0	0	0	27	1058	37	1	1361	1	ABAT	16	8873373	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3760862	8873373	81481380	477	48465											
ABAT	18	broad.mit.edu	37	chr16	8875251	8875251	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacgctcacctgttcctCaatattttcagtgacatctt	9	14	4	14	1	4	1	3	1	1	0	5	1	5	1	3	0	0	2	3	0	2	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:8875251C>A	ENST00000569156.1	+	16	1783	c.1526C>A	c.(1525-1527)tCa>tAa	p.S509*	ABAT_ENST00000268251.8_Silent_p.L489L|ABAT_ENST00000396600.2_Silent_p.L489L|TMEM186_ENST00000564869.1_5'UTR|ABAT_ENST00000425191.2_Silent_p.L489L|ABAT_ENST00000567812.1_Silent_p.L504L			P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	0					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ACCTGTTCCTCAATATTTTCA	0.478													20	53					5.03518e-11	5.40791e-11	1	0	A	8875251	C	A	8875251	4	1	270	1	0	0	0	0	0	1	0	0	27	813	29	2	1525	2	ABAT	16	8875251	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1878	8875251	81479502	478	48466											
C16orf72	29035	broad.mit.edu	37	chr16	9210763	9210763	+	Missense_Mutation	SNP	G	G	A																															acccataaacgcaacagaatGatctaaactgcaaacatttt																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:9210763G>A	ENST00000327827.7	+	4	1219	c.822G>A	c.(820-822)atG>atA	p.M274I		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	274										endometrium(4)|large_intestine(2)|lung(2)	8						GCAACAGAATGATCTAAACTG	0.448													14	90					0	0	0	0	A	9210763	G	A	9210763	3	1	270	1	0	0	0	0	1	0	0	0	1844	1290	45	2	836	2	C16orf72	16	9210763	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	335512	9210763	81143990	479	48467	374	2									
C16orf72	29035	broad.mit.edu	37	chr16	9210767	9210767	+	Nonstop_Mutation	SNP	T	T	A																															ataaacgcaacagaatgatcTaaactgcaaacattttcaca																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:9210767T>A	ENST00000327827.7	+	4	1223	c.826T>A	c.(826-828)Taa>Aaa	p.*276K		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	0										endometrium(4)|large_intestine(2)|lung(2)	8						CAGAATGATCTAAACTGCAAA	0.453													14	84					0	0	0	0	A	9210767	T	A	9210767	4	1	270	1	0	0	0	0	0	0	0	0	1844	1535	53	5	840	5	C16orf72	16	9210767	Nonstop_Mutation	SNP	T	TCGA-CV-6961-01A-21D-1912-08	4	9210767	81143986	480	48468	374	2									
SMG1	23049	broad.mit.edu	37	chr16	18865140	18865140	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagctttcacagacttgcaGaaagatatggcacaagaact	15	9	8	9	0	2	4	2	0	0	4	2	4	2	4	0	1	3	3	0	1	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:18865140G>C	ENST00000446231.2	-	31	4945	c.4533C>G	c.(4531-4533)ttC>ttG	p.F1511L	SMG1_ENST00000389467.3_Missense_Mutation_p.F1511L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1511	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAGACTTGCAGAAAGATATGG	0.403													11	24					0	0	0	0	C	18865140	G	C	18865140	3	2	270	1	0	0	0	0	1	0	0	0	14883	933	33	2	6584	2	SMG1	16	18865140	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	9654373	18865140	71489613	481	48469											
C16orf62	57020	broad.mit.edu	37	chr16	19659193	19659193	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctggagcctgttcttgtgCagttgattcatgtaagtatt	8	17	10	6	0	3	1	1	1	2	0	3	2	3	2	1	1	2	5	1	1	2	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:19659193C>T	ENST00000438132.3	+	24	2332	c.2284C>T	c.(2284-2286)Cag>Tag	p.Q762*	C16orf62_ENST00000417362.2_Nonsense_Mutation_p.Q606*|C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q673*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q523*|C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q422*|C16orf62_ENST00000542263.1_Nonsense_Mutation_p.Q695*	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	673						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGTTCTTGTGCAGTTGATTCA	0.328													24	76					0	0	0	0	T	19659193	C	T	19659193	4	4	270	1	0	0	0	0	0	1	0	0	1838	711	25	4	2111	4	C16orf62	16	19659193	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	794053	19659193	70695560	482	48470											
IL4R	3566	broad.mit.edu	37	chr16	27375021	27375021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccggcctccctggcaccctCgggcatctcagagaagagta	8	7	11	15	2	1	2	1	0	1	2	5	3	3	2	4	3	0	3	4	3	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:27375021C>T	ENST00000395762.2	+	11	2607	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	IL4R_ENST00000543915.2_Missense_Mutation_p.S783L|IL4R_ENST00000170630.2_Missense_Mutation_p.S783L|IL4R_ENST00000380922.3_Missense_Mutation_p.S768L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	783					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.S783L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTGGCACCCTCGGGCATCTCA	0.612													19	57					0	0	0	0	T	27375021	C	T	27375021	3	4	270	1	0	0	0	0	1	0	0	0	7751	893	31	1	2400	1	IL4R	16	27375021	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	7715828	27375021	62979732	483	48471											
KIAA0556	23247	broad.mit.edu	37	chr16	27789012	27789012	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggcatcctgcccacatgtGagcccaccgtgccctaccac	7	6	10	18	1	0	1	0	1	0	0	1	1	1	1	6	2	4	1	6	2	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:27789012G>C	ENST00000261588.4	+	26	4652	c.4633G>C	c.(4633-4635)Gag>Cag	p.E1545Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1545										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCCCACATGTGAGCCCACCGT	0.647													26	93					0	0	0	0	C	27789012	G	C	27789012	3	2	270	1	0	0	0	0	1	0	0	0	8234	1291	45	2	4735	2	KIAA0556	16	27789012	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	413991	27789012	62565741	484	48472											
LAT	27040	broad.mit.edu	37	chr16	28997455	28997455	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttggttctgtgtcctcaGacacggttgccccctggcca	6	11	10	14	1	2	1	1	0	1	1	3	1	3	1	4	3	2	2	4	3	1	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:28997455G>C	ENST00000395456.2	+	4	485		c.e4-1		LAT_ENST00000454369.2_Splice_Site|LAT_ENST00000395461.3_Splice_Site|LAT_ENST00000354453.4_Splice_Site|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000360872.5_Splice_Site|LAT_ENST00000566177.1_Splice_Site|LAT_ENST00000564277.1_Splice_Site|LAT_ENST00000563964.1_Intron	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells						calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				TGTGTCCTCAGACACGGTTGC	0.612													36	83					0	0	0	0	C	28997455	G	C	28997455	5	2	270	1	0	0	0	0	0	0	1	0	8697	956	33	2	289	2	LAT	16	28997455	Splice_Site	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1208443	28997455	61357298	485	48473											
TAOK2	9344	broad.mit.edu	37	chr16	29994478	29994478	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagcatgtccatcagcgcctCcagccagagcagctccgtca	9	6	9	17	2	2	1	2	0	0	1	5	1	5	1	5	0	5	3	5	0	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:29994478C>G	ENST00000308893.4	+	12	2128	c.1085C>G	c.(1084-1086)tCc>tGc	p.S362C	TAOK2_ENST00000416441.2_Missense_Mutation_p.S189C|TAOK2_ENST00000543033.1_Missense_Mutation_p.S362C|TAOK2_ENST00000279394.3_Missense_Mutation_p.S362C	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	362	Ser-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATCAGCGCCTCCAGCCAGAGC	0.627													42	96					0	0	0	0	G	29994478	C	G	29994478	3	3	270	1	0	0	0	0	1	0	0	0	15639	855	30	2	1127	2	TAOK2	16	29994478	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	997023	29994478	60360275	486	48474											
TAOK2	9344	broad.mit.edu	37	chr16	29994909	29994909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcagccccagctcccacttCcaccacctcttccgcccgcc	5	7	5	24	2	1	0	0	0	1	0	4	0	4	0	9	0	3	2	9	0	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:29994909C>T	ENST00000308893.4	+	13	2389	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	TAOK2_ENST00000416441.2_Missense_Mutation_p.S276F|TAOK2_ENST00000543033.1_Missense_Mutation_p.S449F|TAOK2_ENST00000279394.3_Missense_Mutation_p.S449F	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	449					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCTCCCACTTCCACCACCTCT	0.622													9	466					0	0	0	0	T	29994909	C	T	29994909	3	4	270	1	0	0	0	0	1	0	0	0	15639	855	30	2	1392	2	TAOK2	16	29994909	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	431	29994909	60359844	487	48475											
GDPD3	79153	broad.mit.edu	37	chr16	30116264	30116264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggataatccgttatgaCgccagtggctcccacgctga	8	10	12	11	3	0	2	0	2	0	0	2	3	2	3	3	2	0	3	3	2	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:30116264C>T	ENST00000406256.3	-	10	1263	c.886G>A	c.(886-888)Gtc>Atc	p.V296I		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	296	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TCCGTTATGACGCCAGTGGCT	0.567													15	43					0	0	0	0	T	30116264	C	T	30116264	3	4	270	1	0	0	0	0	1	0	0	0	6376	536	19	1	74	1	GDPD3	16	30116264	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	121355	30116264	60238489	488	48476											
SRCAP	10847	broad.mit.edu	37	chr16	30749759	30749759	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgcagcatgtcagggccaGaatcctcccctcccattggt	7	9	9	16	1	1	1	1	0	0	1	5	1	5	1	6	2	1	2	6	2	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:30749759G>C	ENST00000262518.4	+	34	8783	c.8398G>C	c.(8398-8400)Gaa>Caa	p.E2800Q	SRCAP_ENST00000395059.2_Missense_Mutation_p.E2738Q|SRCAP_ENST00000344771.4_Missense_Mutation_p.E2642Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2800	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTCAGGGCCAGAATCCTCCCC	0.652													4	76					0	0	0	0	C	30749759	G	C	30749759	3	2	270	1	0	0	0	0	1	0	0	0	15225	943	33	2	8524	2	SRCAP	16	30749759	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	633495	30749759	59604994	489	48477											
BCKDK	10295	broad.mit.edu	37	chr16	31121565	31121565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcccagtactgccagctgGtgcgacagctgctggatgac	8	7	14	12	1	0	1	0	1	0	0	0	3	0	2	2	3	6	4	2	3	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:31121565G>A	ENST00000394951.1	+	7	1086	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	BCKDK_ENST00000219794.6_Missense_Mutation_p.V155M|BCKDK_ENST00000394950.3_Missense_Mutation_p.V155M|BCKDK_ENST00000287507.3_Missense_Mutation_p.V155M			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	155					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CTGCCAGCTGGTGCGACAGCT	0.607													18	66					0	0	0	0	A	31121565	G	A	31121565	3	1	270	1	0	0	0	0	1	0	0	0	1365	1261	44	4	481	4	BCKDK	16	31121565	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	371806	31121565	59233188	490	48478											
BCKDK	10295	broad.mit.edu	37	chr16	31121725	31121725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacctcactctttacaggatGaaaagctcgtccgctacttc	10	11	7	13	2	2	1	1	1	1	0	5	3	3	2	2	1	3	2	2	1	4	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:31121725G>A	ENST00000394951.1	+	8	1170	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	BCKDK_ENST00000219794.6_Missense_Mutation_p.E183K|BCKDK_ENST00000394950.3_Missense_Mutation_p.E183K|BCKDK_ENST00000287507.3_Missense_Mutation_p.E183K			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	183	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TTTACAGGATGAAAAGCTCGT	0.592													20	59					0	0	0	0	A	31121725	G	A	31121725	3	1	270	1	0	0	0	0	1	0	0	0	1365	1291	45	2	569	2	BCKDK	16	31121725	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	160	31121725	59233028	491	48479											
KATNB1	10300	broad.mit.edu	37	chr16	57786709	57786709	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagcgtcctcttcaacccaGacggctgctgcctgtacagc	7	8	11	15	2	2	1	1	0	1	1	3	2	3	2	3	2	6	3	3	2	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:57786709G>C	ENST00000379661.3	+	10	1116	c.724G>C	c.(724-726)Gac>Cac	p.D242H		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	242	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CTTCAACCCAGACGGCTGCTG	0.657													4	28					0	0	0	0	C	57786709	G	C	57786709	3	2	270	1	0	0	0	0	1	0	0	0	8040	942	33	2	758	2	KATNB1	16	57786709	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	26664984	57786709	32568044	492	48480											
ELMO3	79767	broad.mit.edu	37	chr16	67237075	67237075	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaagctgctgcagtacggaGacatggaggagggcgccagc	11	4	16	10	2	0	1	0	0	0	1	0	4	0	3	1	4	5	4	1	4	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:67237075G>C	ENST00000393997.2	+	17	1945	c.1888G>C	c.(1888-1890)Gac>Cac	p.D630H	ELMO3_ENST00000477898.1_Missense_Mutation_p.D464H|ELMO3_ENST00000360833.1_Missense_Mutation_p.D613H	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	577	PH.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	p.D630N(1)		cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCAGTACGGAGACATGGAGGA	0.647													10	26					0	0	0	0	C	67237075	G	C	67237075	3	2	270	1	0	0	0	0	1	0	0	0	5105	942	33	2	1954	2	ELMO3	16	67237075	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	9450366	67237075	23117678	493	48481											
WWP2	11060	broad.mit.edu	37	chr16	69874159	69874159	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcctaatggcagtgccctGacagatggtgagtgccgccc	7	8	14	12	1	0	3	0	2	0	1	0	3	0	3	4	2	3	1	4	2	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:69874159G>C	ENST00000359154.2	+	5	572	c.471G>C	c.(469-471)ctG>ctC	p.L157L	WWP2_ENST00000569174.1_Silent_p.L157L|WWP2_ENST00000448661.1_Silent_p.L157L|WWP2_ENST00000542271.1_Silent_p.L41L|WWP2_ENST00000356003.2_Silent_p.L157L|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	157					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCAGTGCCCTGACAGATGGTG	0.602													3	68					0	0	0	0	C	69874159	G	C	69874159	2	2	270	1	0	0	0	0	0	0	0	1	17512	1277	45	2		2	WWP2	16	69874159	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2637084	69874159	20480594	494	48482											
ZNF23	7571	broad.mit.edu	37	chr16	71512138	71512138	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcctcacctacctttacaGacgtttttggtcctctctgc	5	15	6	15	1	2	1	1	0	1	1	4	1	3	1	4	1	4	1	4	1	2	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:71512138G>A	ENST00000561908.1	-	5	769	c.267C>T	c.(265-267)gtC>gtT	p.V89V	ZNF19_ENST00000565637.1_Silent_p.V47V|ZNF19_ENST00000564230.1_Silent_p.V89V|ZNF19_ENST00000288177.5_Silent_p.V89V|ZNF19_ENST00000565100.2_Silent_p.V19V|ZNF19_ENST00000567225.1_Silent_p.V89V																							TACCTTTACAGACGTTTTTGG	0.448													8	34					0	0	0	0	A	71512138	G	A	71512138	2	1	270	1	0	0	0	0	0	0	0	1	17878	929	33	2		2	ZNF23	16	71512138	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1637979	71512138	18842615	495	48483											
ATMIN	23300	broad.mit.edu	37	chr16	81078338	81078338	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagacccaaactgaaggagtCtccactgctaaaaatatacc	16	7	7	11	0	1	2	0	1	1	1	2	4	1	3	3	1	3	1	3	1	7	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:81078338C>G	ENST00000566488.1	+	3	2730	c.1767C>G	c.(1765-1767)gtC>gtG	p.V589V	ATMIN_ENST00000299575.4_Silent_p.V745V|ATMIN_ENST00000564241.1_Silent_p.V589V|ATMIN_ENST00000539819.1_3'UTR			O43313	ATMIN_HUMAN	ATM interactor	745					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTGAAGGAGTCTCCACTGCTA	0.453													10	97					0	0	0	0	G	81078338	C	G	81078338	2	3	270	1	0	0	0	0	0	0	0	1	1114	900	32	2		2	ATMIN	16	81078338	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	9566200	81078338	9276415	496	48484											
GAN	8139	broad.mit.edu	37	chr16	81388253	81388253	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattcttagagctgagtcctCaaaagcttaaagaagtgatt	15	12	8	6	0	2	4	1	2	1	2	3	4	3	4	1	0	2	2	1	0	7	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:81388253C>G	ENST00000248272.3	+	3	688	c.526C>G	c.(526-528)Caa>Gaa	p.Q176E		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	176	BACK.				cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GCTGAGTCCTCAAAAGCTTAA	0.408													21	50					0	0	0	0	G	81388253	C	G	81388253	3	3	270	1	0	0	0	0	1	0	0	0	6281	827	29	2	536	2	GAN	16	81388253	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	309915	81388253	8966500	497	48485											
CDH13	1012	broad.mit.edu	37	chr16	83636065	83636065	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttgtgctttgtagactctgGaaaatcccaagtatgaactg	11	13	9	8	0	1	2	0	1	1	1	2	3	2	3	1	1	2	3	1	1	6	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:83636065G>C	ENST00000566620.1	+	8	1257	c.967G>C	c.(967-969)Gaa>Caa	p.E323Q	CDH13_ENST00000428848.3_Missense_Mutation_p.E284Q|CDH13_ENST00000268613.10_Missense_Mutation_p.E370Q	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	323	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTAGACTCTGGAAAATCCCAA	0.463													67	241					0	0	0	0	C	83636065	G	C	83636065	3	2	270	1	0	0	0	0	1	0	0	0	3128	1175	41	2	997	2	CDH13	16	83636065	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2247812	83636065	6718688	498	48486											
FANCA	2175	broad.mit.edu	37	chr16	89858379	89858379	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagcagacaaccagggcaGacacaaaggagagcactctc	17	2	11	11	0	1	3	0	0	1	3	2	5	1	3	1	2	3	3	1	2	3	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:89858379G>C	ENST00000389301.3	-	13	1211	c.1181C>G	c.(1180-1182)tCt>tGt	p.S394C	FANCA_ENST00000568369.1_Missense_Mutation_p.S394C	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	394					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AACCAGGGCAGACACAAAGGA	0.552			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	48					0	0	0	0	C	89858379	G	C	89858379	3	2	270	1	0	0	0	0	1	0	0	0	5707	942	33	2	3310	2	FANCA	16	89858379	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	6222314	89858379	496374	499	48487											
SPIRE2	84501	broad.mit.edu	37	chr16	89930015	89930015	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcagcagtctgaagaagggGaaggtgaggctgcctagacg	11	7	16	7	1	2	4	1	2	1	2	2	5	2	5	1	4	2	2	1	4	4	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:89930015G>T	ENST00000378247.3	+	11	1750	c.1707G>T	c.(1705-1707)ggG>ggT	p.G569G	SPIRE2_ENST00000393062.2_Silent_p.G569G	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	569					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGAAGAAGGGGAAGGTGAGGC	0.587													12	60					3.07112e-06	3.20779e-06	1	0	T	89930015	G	T	89930015	2	4	270	1	0	0	0	0	0	0	0	1	15162	1161	41	2		2	SPIRE2	16	89930015	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	71636	89930015	424738	500	48488											
ZZEF1	23140	broad.mit.edu	37	chr17	4009037	4009037	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttccagcacattaggggaGaggaaagttgagaaatctgt	13	10	12	6	0	2	2	0	1	2	2	3	5	3	3	1	3	1	2	1	3	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:4009037G>C	ENST00000381638.2	-	7	1468	c.1344C>G	c.(1342-1344)ctC>ctG	p.L448L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	448							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CATTAGGGGAGAGGAAAGTTG	0.453													15	40					0	0	0	0	C	4009037	G	C	4009037	2	2	270	1	0	0	0	0	0	0	0	1	18346	929	33	2		2	ZZEF1	17	4009037	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08		4009037	77186173	501	48489											
XAF1	54739	broad.mit.edu	37	chr17	6665494	6665494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaaagaatttcagctcctGaaagggaaatctactgtcat	14	10	10	7	0	3	2	2	1	1	1	4	4	4	4	1	2	2	1	1	2	5	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:6665494G>A	ENST00000361842.3	+	5	681	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	XAF1_ENST00000441631.1_Missense_Mutation_p.E148K|XAF1_ENST00000346752.4_Missense_Mutation_p.E129K	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	148					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						TTCAGCTCCTGAAAGGGAAAT	0.408													12	19					0	0	0	0	A	6665494	G	A	6665494	3	1	270	1	0	0	0	0	1	0	0	0	17515	1291	45	2	460	2	XAF1	17	6665494	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2656457	6665494	74529716	502	48490											
PHF23	79142	broad.mit.edu	37	chr17	7139717	7139717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcggtccttctttcgaggagGatgggagaggtccccctggg	5	10	16	10	2	1	1	0	0	1	1	5	5	3	3	3	6	0	0	3	6	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:7139717G>A	ENST00000320316.3	-	4	755	c.529C>T	c.(529-531)Cct>Tct	p.P177S	PHF23_ENST00000576955.1_Missense_Mutation_p.P47S|PHF23_ENST00000571362.1_Missense_Mutation_p.P110S|PHF23_ENST00000454255.2_Missense_Mutation_p.P173S	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	177							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TTTCGAGGAGGATGGGAGAGG	0.632													21	49					0	0	0	0	A	7139717	G	A	7139717	3	1	270	1	0	0	0	0	1	0	0	0	11907	1174	41	2	690	2	PHF23	17	7139717	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	474223	7139717	74055493	503	48491											
KDM6B	23135	broad.mit.edu	37	chr17	7752328	7752328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctatctctgccccctgctCgctctgagtctgaggtgcta	4	12	9	16	1	3	2	0	2	3	0	5	2	3	2	3	1	3	3	3	1	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:7752328C>T	ENST00000254846.5	+	11	3111	c.2722C>T	c.(2722-2724)Cgc>Tgc	p.R908C	KDM6B_ENST00000448097.2_Missense_Mutation_p.R908C	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	908					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCCCCCTGCTCGCTCTGAGTC	0.711													6	11					0	0	0	0	T	7752328	C	T	7752328	3	4	270	1	0	0	0	0	1	0	0	0	8190	884	31	1	2752	1	KDM6B	17	7752328	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	612611	7752328	73442882	504	48492											
RASD1	51655	broad.mit.edu	37	chr17	17398763	17398763	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttcttggccgagatctcGaagtaggcgcagcgctgggg	6	10	15	10	4	3	1	0	0	3	1	4	3	3	1	1	4	1	3	1	4	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:17398763G>A	ENST00000225688.3	-	2	733	c.522C>T	c.(520-522)ttC>ttT	p.F174F	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	174					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CCGAGATCTCGAAGTAGGCGC	0.647													5	9					0	0	0	0	A	17398763	G	A	17398763	2	1	270	1	0	0	0	0	0	0	0	1	13148	1049	37	1		1	RASD1	17	17398763	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	9646435	17398763	63796447	505	48493											
ATPAF2	91647	broad.mit.edu	37	chr17	17921887	17921887	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttcaggagcttgtgcttGactgtggtgctctcggagca	5	13	13	10	1	2	1	1	1	1	0	4	3	3	3	1	3	4	4	1	3	0	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:17921887G>C	ENST00000474627.3	-	8	1000	c.846C>G	c.(844-846)gtC>gtG	p.V282V	ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	282					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GCTTGTGCTTGACTGTGGTGC	0.642													25	74					0	0	0	0	C	17921887	G	C	17921887	2	2	270	1	0	0	0	0	0	0	0	1	1205	1277	45	2		2	ATPAF2	17	17921887	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	523124	17921887	63273323	506	48494											
UNC119	9094	broad.mit.edu	37	chr17	26879514	26879514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggggccacgctctggcccGagggccccggagcggactcc	4	4	17	16	4	1	0	0	0	1	0	2	3	2	2	5	6	1	1	5	6	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:26879514G>A	ENST00000301032.4	-	1	135	c.62C>T	c.(61-63)tCg>tTg	p.S21L	UNC119_ENST00000335765.4_Missense_Mutation_p.S21L	NM_054035.2	NP_473376.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	21					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GCTCTGGCCCGAGGGCCCCGG	0.761													3	9					0	0	0	0	A	26879514	G	A	26879514	3	1	270	1	0	0	0	0	1	0	0	0	17078	1059	37	1	733	1	UNC119	17	26879514	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	8957627	26879514	54315696	507	48495											
SUPT6H	6830	broad.mit.edu	37	chr17	27001375	27001375	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggctttatcaatgacgatGatgatgaagatgaaggggag	15	9	14	3	1	1	6	1	5	0	1	1	8	1	7	0	3	0	1	0	3	5	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:27001375G>C	ENST00000314616.6	+	3	467	c.184G>C	c.(184-186)Gat>Cat	p.D62H	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D62H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	62	Asp/Glu-rich.			DDDEDEGEEDEGS -> ATAPGHPKLSEGR (in Ref. 1; AAC50821).	chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAATGACGATGATGATGAAGA	0.473													10	27					0	0	0	0	C	27001375	G	C	27001375	3	2	270	1	0	0	0	0	1	0	0	0	15490	1290	45	2	190	2	SUPT6H	17	27001375	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	121861	27001375	54193835	508	48496											
PHF12	57649	broad.mit.edu	37	chr17	27244465	27244465	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtcatattcttctggttCagctagggacaaagcagaca	12	11	10	8	0	4	1	2	0	2	1	4	2	4	2	0	2	2	3	0	2	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:27244465C>G	ENST00000577226.1	-	7	1318	c.972G>C	c.(970-972)ctG>ctC	p.L324L	PHF12_ENST00000332830.4_Silent_p.L324L|PHF12_ENST00000268756.3_Silent_p.L324L|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	324	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TCTTCTGGTTCAGCTAGGGAC	0.493													11	47					0	0	0	0	G	27244465	C	G	27244465	2	3	270	1	0	0	0	0	0	0	0	1	11895	813	29	2		2	PHF12	17	27244465	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	243090	27244465	53950745	509	48497											
CPD	1362	broad.mit.edu	37	chr17	28789469	28789469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttggtttgccaagggagCttgtggtaactgtatcaggt	8	15	13	5	0	1	0	1	0	0	0	1	1	1	1	1	4	3	4	1	4	4	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:28789469C>G	ENST00000225719.4	+	20	3974	c.3898C>G	c.(3898-3900)Ctt>Gtt	p.L1300V	CPD_ENST00000543464.2_Missense_Mutation_p.L1053V	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1300					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCCAAGGGAGCTTGTGGTAAC	0.373													20	49					0	0	0	0	G	28789469	C	G	28789469	3	3	270	1	0	0	0	0	1	0	0	0	3828	797	28	4	3976	4	CPD	17	28789469	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1545004	28789469	52405741	510	48498											
LRRC37B	114659	broad.mit.edu	37	chr17	30376383	30376383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaatgagaacatggaacaGaatgaacagaaagagcagaa	22	5	10	4	0	0	6	0	2	0	5	0	8	0	7	0	1	4	1	0	1	7	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:30376383G>C	ENST00000327564.7	+	10	2788	c.2727G>C	c.(2725-2727)caG>caC	p.Q909H	LRRC37B_ENST00000394713.3_Missense_Mutation_p.Q831H|LRRC37B_ENST00000584368.1_Missense_Mutation_p.Q843H|LRRC37B_ENST00000341671.7_Missense_Mutation_p.Q882H|LRRC37B_ENST00000543378.2_Missense_Mutation_p.Q800H			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	882						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACATGGAACAGAATGAACAGA	0.433													4	9					0	0	0	0	C	30376383	G	C	30376383	3	2	270	1	0	0	0	0	1	0	0	0	9058	933	33	2	2684	2	LRRC37B	17	30376383	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1586914	30376383	50818827	511	48499											
CCL2	6347	broad.mit.edu	37	chr17	32583786	32583786	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgtgctgaccccaagcaGaagtgggttcaggattccat	10	10	11	10	0	2	2	1	1	1	1	3	3	3	3	3	2	2	3	3	2	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:32583786G>C	ENST00000225831.4	+	3	305	c.240G>C	c.(238-240)caG>caC	p.Q80H	CCL2_ENST00000580907.1_3'UTR	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	80					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	ACCCCAAGCAGAAGTGGGTTC	0.488													20	38					0	0	0	0	C	32583786	G	C	32583786	3	2	270	1	0	0	0	0	1	0	0	0	2918	933	33	2	250	2	CCL2	17	32583786	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2207403	32583786	48611424	512	48500											
GPR179	440435	broad.mit.edu	37	chr17	36499096	36499096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcttcagggcaggggtgtCcaggtccccaggagggttct	5	10	15	11	0	3	0	1	0	2	0	5	1	5	1	3	6	0	2	3	6	0	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:36499096C>T	ENST00000342292.4	-	1	597	c.577G>A	c.(577-579)Gac>Aac	p.D193N		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	193						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCAGGGGTGTCCAGGTCCCCA	0.637													18	77					0	0	0	0	T	36499096	C	T	36499096	3	4	270	1	0	0	0	0	1	0	0	0	6723	855	30	2	6570	2	GPR179	17	36499096	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	3915310	36499096	44696114	513	48501											
PGAP3	93210	broad.mit.edu	37	chr17	37842184	37842184	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctccaactcaccttgccatgGaactgaggcactttgtgacc	9	10	8	14	0	1	2	1	2	0	0	2	3	2	3	4	2	3	1	4	2	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:37842184G>A	ENST00000300658.4	-	2	362	c.270C>T	c.(268-270)ttC>ttT	p.F90F	PGAP3_ENST00000429199.2_Silent_p.F90F|PGAP3_ENST00000579146.1_Silent_p.F90F|PGAP3_ENST00000378011.4_Silent_p.F90F	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	90					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTTGCCATGGAACTGAGGCA	0.537													6	32					0	0	0	0	A	37842184	G	A	37842184	2	1	270	1	0	0	0	0	0	0	0	1	11851	1165	41	2		2	PGAP3	17	37842184	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1343088	37842184	43353026	514	48502											
WNK4	65266	broad.mit.edu	37	chr17	40936541	40936541	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctggagatggccacctctGagtacccgtactccgagtgc	7	9	12	13	2	1	2	0	1	1	1	2	4	2	2	4	2	4	3	4	2	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:40936541G>C	ENST00000246914.5	+	4	1135	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	372	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGCCACCTCTGAGTACCCGTA	0.597													6	36					0	0	0	0	C	40936541	G	C	40936541	3	2	270	1	0	0	0	0	1	0	0	0	17476	1291	45	2	1128	2	WNK4	17	40936541	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3094357	40936541	40258669	515	48503											
HOXB7	3217	broad.mit.edu	37	chr17	46685395	46685395	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcgattgtagtgaaattCtttctccagctccagggtct	8	14	10	9	1	3	1	0	1	3	0	5	2	4	1	2	1	2	3	2	1	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:46685395C>A	ENST00000239165.7	-	2	561	c.463G>T	c.(463-465)Gaa>Taa	p.E155*	HOXB7_ENST00000567101.1_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	155						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						TAGTGAAATTCTTTCTCCAGC	0.542													29	90					7.26314e-15	7.8857e-15	1	0	A	46685395	C	A	46685395	4	1	270	1	0	0	0	0	0	1	0	0	7356	922	32	2	194	2	HOXB7	17	46685395	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	5748854	46685395	34509815	516	48504											
CACNA1G	8913	broad.mit.edu	37	chr17	48683370	48683370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccggcacaagtacaactttGacaaccttggccaggtgagc	11	8	10	12	1	0	2	0	2	0	0	1	2	1	2	3	3	4	2	3	3	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:48683370G>C	ENST00000352832.5	+	22	4711	c.4339G>C	c.(4339-4341)Gac>Cac	p.D1447H	CACNA1G_ENST00000416767.4_Missense_Mutation_p.D1470H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D1470H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1447H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1447H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1447H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1447H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1470H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1470					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTACAACTTTGACAACCTTGG	0.587													21	61					0	0	0	0	C	48683370	G	C	48683370	3	2	270	1	0	0	0	0	1	0	0	0	2569	1290	45	2	4498	2	CACNA1G	17	48683370	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1997975	48683370	32511840	517	48505											
CACNA1G	8913	broad.mit.edu	37	chr17	48684289	48684289	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtccctgttcgttttggcctCcaaggatggttgggtggaca	5	13	14	9	1	0	0	0	0	0	0	3	2	2	2	3	5	0	3	3	5	1	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:48684289C>G	ENST00000352832.5	+	23	4754	c.4382C>G	c.(4381-4383)tCc>tGc	p.S1461C	CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1484C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1461C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1461C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1461C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1461C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1484C	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1484					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTTTTGGCCTCCAAGGATGGT	0.577													16	41					0	0	0	0	G	48684289	C	G	48684289	3	3	270	1	0	0	0	0	1	0	0	0	2569	855	30	2	4791	2	CACNA1G	17	48684289	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	919	48684289	32510921	518	48506											
OR4D2	124538	broad.mit.edu	37	chr17	56247319	56247319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggctgcatgggtcagatCttcttcttccactttttggg	5	15	11	10	0	4	1	1	0	3	1	5	1	5	1	1	3	1	2	1	3	0	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:56247319C>G	ENST00000545221.1	+	1	303	c.303C>G	c.(301-303)atC>atG	p.I101M		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TGGGTCAGATCTTCTTCTTCC	0.527													10	121					0	0	0	0	G	56247319	C	G	56247319	3	3	270	1	0	0	0	0	1	0	0	0	11127	903	32	2	305	2	OR4D2	17	56247319	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	7563030	56247319	24947891	519	48507											
ERN1	2081	broad.mit.edu	37	chr17	62121446	62121446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacagctccatggcccGgtaggtgtgtgcgaggaggt	6	8	17	10	2	0	0	0	0	0	0	1	2	1	1	2	5	3	4	2	5	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:62121446G>A	ENST00000433197.2	-	22	2931	c.2836C>T	c.(2836-2838)Cgg>Tgg	p.R946W		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	946	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCCATGGCCCGGTAGGTGTGT	0.657													5	133					0	0	0	0	A	62121446	G	A	62121446	3	1	270	1	0	0	0	0	1	0	0	0	5275	1115	39	1	101	1	ERN1	17	62121446	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	5874127	62121446	19073764	520	48508											
CACNG4	27092	broad.mit.edu	37	chr17	65026887	65026887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtccagctcaaggtccaccGaggcctcgccctccagggac	7	5	12	17	2	1	0	1	0	0	0	5	2	4	1	6	4	1	1	6	4	1	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:65026887G>A	ENST00000262138.3	+	4	753	c.751G>A	c.(751-753)Gag>Aag	p.E251K		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	251					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AAGGTCCACCGAGGCCTCGCC	0.632													24	58					0	0	0	0	A	65026887	G	A	65026887	3	1	270	1	0	0	0	0	1	0	0	0	2584	1059	37	1	765	1	CACNG4	17	65026887	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2905441	65026887	16168323	521	48509											
FAM20A	54757	broad.mit.edu	37	chr17	66548055	66548055	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcccgaaatccgagaacctCagcaccagcttgaggtggac	11	7	10	13	2	1	2	1	1	0	1	3	5	3	3	4	2	3	2	4	2	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:66548055C>T	ENST00000592554.1	-	4	1400	c.678G>A	c.(676-678)ctG>ctA	p.L226L	FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	226						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CCGAGAACCTCAGCACCAGCT	0.552													3	3					0	0	0	0	T	66548055	C	T	66548055	2	4	270	1	0	0	0	0	0	0	0	1	5580	813	29	2		2	FAM20A	17	66548055	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1521168	66548055	14647155	522	48510											
EVPL	2125	broad.mit.edu	37	chr17	74018542	74018542	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccataggcgtcgatctccttCtgcaggatgttgtgctcggc	5	12	12	12	3	2	0	0	0	2	0	5	2	2	1	2	3	2	3	2	3	1	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:74018542C>T	ENST00000301607.3	-	5	811	c.558G>A	c.(556-558)caG>caA	p.Q186Q	EVPL_ENST00000586740.1_Silent_p.Q186Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	186	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGATCTCCTTCTGCAGGATGT	0.672													3	44					0	0	0	0	T	74018542	C	T	74018542	2	4	270	1	0	0	0	0	0	0	0	1	5330	912	32	2		2	EVPL	17	74018542	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	7470487	74018542	7176668	523	48511											
DNAH17	8632	broad.mit.edu	37	chr17	76455098	76455098	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttacggcaatcttgtttttGatccgggacagcttctcttg	6	16	9	10	2	2	1	0	1	2	0	4	2	3	2	1	2	2	3	1	2	2	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:76455098G>A	ENST00000389840.5	-	61	9928	c.9804C>T	c.(9802-9804)atC>atT	p.I3268I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.I3277I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTTGTTTTTGATCCGGGACA	0.582													21	61					0	0	0	0	A	76455098	G	A	76455098	2	1	270	1	0	0	0	0	0	0	0	1	4638	1280	45	2		2	DNAH17	17	76455098	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2436556	76455098	4740112	524	48512											
DNAH17	8632	broad.mit.edu	37	chr17	76455962	76455962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatcatgatcttggccGccttccagctcttgtccttg	4	14	8	15	1	3	1	1	1	2	0	5	1	5	1	5	1	2	1	5	1	0	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:76455962G>A	ENST00000389840.5	-	60	9639	c.9515C>T	c.(9514-9516)gCg>gTg	p.A3172V	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.A3181V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCTTGGCCGCCTTCCAGCT	0.592													41	34					0	0	0	0	A	76455962	G	A	76455962	3	1	270	1	0	0	0	0	1	0	0	0	4638	1087	38	1	3919	1	DNAH17	17	76455962	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	864	76455962	4739248	525	48513											
RNF213	57674	broad.mit.edu	37	chr17	78358943	78358943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagttgaatacagctccatCagaggcttcctcagcaagca	13	8	8	12	0	2	2	2	1	0	1	4	2	4	2	2	1	4	5	2	1	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:78358943C>T	ENST00000582970.1	+	60	14570	c.14427C>T	c.(14425-14427)atC>atT	p.I4809I	RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.I4858I|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.I2882I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	1175										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACAGCTCCATCAGAGGCTTCC	0.532													11	44					0	0	0	0	T	78358943	C	T	78358943	2	4	270	1	0	0	0	0	0	0	0	1	13562	816	29	2		2	RNF213	17	78358943	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1902981	78358943	2836267	526	48514											
NPLOC4	55666	broad.mit.edu	37	chr17	79563226	79563226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggatgcttgttctggaagtCtcctgcagtgatgcactctt	6	14	12	9	0	3	1	0	1	3	0	4	3	3	3	1	2	3	4	1	2	1	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:79563226C>G	ENST00000374747.5	-	11	1165	c.1036G>C	c.(1036-1038)Gac>Cac	p.D346H	NPLOC4_ENST00000331134.6_Missense_Mutation_p.D346H|NPLOC4_ENST00000539314.1_Missense_Mutation_p.D185H			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	346					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTCTGGAAGTCTCCTGCAGTG	0.443													24	59					0	0	0	0	G	79563226	C	G	79563226	3	3	270	1	0	0	0	0	1	0	0	0	10657	913	32	2	818	2	NPLOC4	17	79563226	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1204283	79563226	1631984	527	48515											
P4HB	5034	broad.mit.edu	37	chr17	79813047	79813047	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaggacaaccccatctttgtCgagctggtatttggagaaca	11	10	11	9	1	1	1	0	0	1	1	2	5	1	2	2	3	3	2	2	3	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:79813047C>G	ENST00000331483.4	-	4	817	c.595G>C	c.(595-597)Gac>Cac	p.D199H	P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Missense_Mutation_p.D155H|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	199					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.D199H(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CCATCTTTGTCGAGCTGGTAT	0.542													65	197					0	0	0	0	G	79813047	C	G	79813047	3	3	270	1	0	0	0	0	1	0	0	0	11430	884	31	3	963	3	P4HB	17	79813047	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	249821	79813047	1382163	528	48516											
NOTUM	147111	broad.mit.edu	37	chr17	79916266	79916266	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactggagcagtaggggatGaagctgcaacacagaacaga	15	5	13	8	0	1	3	1	1	0	2	1	5	1	5	0	3	5	4	0	3	4	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:79916266G>A	ENST00000409678.3	-	5	920	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	179						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGTAGGGGATGAAGCTGCAAC	0.612													11	44					0	0	0	0	A	79916266	G	A	79916266	2	1	270	1	0	0	0	0	0	0	0	1	10622	1281	45	2		2	NOTUM	17	79916266	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	103219	79916266	1278944	529	48517											
ASPSCR1	79058	broad.mit.edu	37	chr17	79973108	79973108	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatccagaggccgagcctCtccaagcactggtcagcctc	8	7	9	17	1	2	1	1	0	1	1	6	2	4	1	6	2	3	1	6	2	1	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:79973108C>G	ENST00000306729.7	+	13	1608	c.1511C>G	c.(1510-1512)tCt>tGt	p.S504C	ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Intron|ASPSCR1_ENST00000580534.1_Intron	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	500							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGCCGAGCCTCTCCAAGCACT	0.632			T	TFE3	alveolar soft part sarcoma								20	79					0	0	0	0	G	79973108	C	G	79973108	3	3	270	1	0	0	0	0	1	0	0	0	1063	928	32	2		2	ASPSCR1	17	79973108	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	56842	79973108	1222102	530	48518											
FASN	2194	broad.mit.edu	37	chr17	80044282	80044282	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgccagctccagctgcaGgttcccgttgagctgaagcc	6	8	12	15	2	0	2	0	2	0	0	2	2	2	2	4	1	6	6	4	1	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:80044282G>C	ENST00000306749.2	-	22	3798	c.3580C>G	c.(3580-3582)Ctg>Gtg	p.L1194V		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1194					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TCCAGCTGCAGGTTCCCGTTG	0.697													12	27					0	0	0	0	C	80044282	G	C	80044282	3	2	270	1	0	0	0	0	1	0	0	0	5728	991	35	4	4043	4	FASN	17	80044282	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	71174	80044282	1150928	531	48519											
C17orf62	79415	broad.mit.edu	37	chr17	80405459	80405459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggggggtgctttacctcCgctgtagtaggcagcagcca	6	8	16	11	2	0	0	0	0	0	0	1	0	1	0	3	5	4	6	3	5	3	4	rs142773924		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:80405459C>T	ENST00000437807.2	-	4	441	c.124G>A	c.(124-126)Gga>Aga	p.G42R	C17orf62_ENST00000342572.8_Intron|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000585064.1_Missense_Mutation_p.G42R|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000578919.1_Missense_Mutation_p.G42R|C17orf62_ENST00000585080.1_Missense_Mutation_p.G42R|C17orf62_ENST00000434650.2_Intron|C17orf62_ENST00000577732.1_Missense_Mutation_p.G42R|C17orf62_ENST00000578913.1_Missense_Mutation_p.G42R|C17orf62_ENST00000583617.1_Missense_Mutation_p.G42R|C17orf62_ENST00000306645.5_Missense_Mutation_p.G42R|C17orf62_ENST00000577436.1_Intron	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	42						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTTTACCTCCGCTGTAGTAG	0.542													4	14					0	0	0	0	T	80405459	C	T	80405459	3	4	270	1	0	0	0	0	1	0	0	0	1885	661	23	1	459	1	C17orf62	17	80405459	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	361177	80405459	789751	532	48520											
ZNF750	79755	broad.mit.edu	37	chr17	80790179	80790179	+	Frame_Shift_Del	DEL	T	T	-																															ctgatactaaagtaatcgagTttttacaaagaccatacttc																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:80790179delT	ENST00000269394.3	-	2	985	c.152delA	c.(151-153)acfs	p.N51fs	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	51						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTAATCGAGTTTTTACAAAG	0.433													46	50	---	---	---	---					-	80790179	T	-	80790179	7	5	270	1	0	1	0	1	0	0	0	0	18226	1725	60	0	2027	0	ZNF750	17	80790179	Frame_Shift_Del	DEL	T	TCGA-CV-6961-01A-21D-1912-08	384720	80790179	405031	533	48521											
IMPA2	3613	broad.mit.edu	37	chr18	12028874	12028874	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagctccacattggcactCtgccacctggcctcaggggc	7	7	12	15	0	2	0	1	0	1	0	3	1	3	1	4	5	2	2	4	5	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:12028874C>T	ENST00000269159.3	+	7	875	c.633C>T	c.(631-633)ctC>ctT	p.L211L	IMPA2_ENST00000589238.1_Silent_p.L22L|IMPA2_ENST00000588927.1_Silent_p.L22L	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	211					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	CATTGGCACTCTGCCACCTGG	0.617													42	63					0	0	0	0	T	12028874	C	T	12028874	2	4	270	1	0	0	0	0	0	0	0	1	7776	900	32	2		2	IMPA2	18	12028874	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08		12028874	66048374	534	48522											
MIB1	57534	broad.mit.edu	37	chr18	19429231	19429231	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagagtgtatggtgtgctCagatatgaagagagatactc	14	10	13	4	0	1	6	1	1	0	5	2	7	1	6	0	1	2	2	0	1	5	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:19429231C>G	ENST00000261537.6	+	17	2732	c.2468C>G	c.(2467-2469)tCa>tGa	p.S823*	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	823					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATGGTGTGCTCAGATATGAAG	0.378													50	127					0	0	0	0	G	19429231	C	G	19429231	4	3	270	1	0	0	0	0	0	1	0	0	9635	838	29	2	2534	2	MIB1	18	19429231	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	7400357	19429231	58648017	535	48523											
GATA6	2627	broad.mit.edu	37	chr18	19761413	19761413	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcttgtactgtttctaGccttcatcacggcggcttgg	5	16	10	10	2	4	0	2	0	2	0	4	0	4	0	1	3	2	4	1	3	2	7			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:19761413G>A	ENST00000269216.3	+	4	1579		c.e4-1		GATA6_ENST00000581694.1_Splice_Site	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6						blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACTGTTTCTAGCCTTCATCAC	0.418													11	44					0	0	0	0	A	19761413	G	A	19761413	5	1	270	1	0	0	0	0	0	0	1	0	6307	985	34	4	1312	4	GATA6	18	19761413	Splice_Site	SNP	G	TCGA-CV-6961-01A-21D-1912-08	332182	19761413	58315835	536	48524											
LAMA3	3909	broad.mit.edu	37	chr18	21404467	21404467	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccctggaaatggttttgcaGacccattttcaatcacacca	11	12	6	12	0	2	1	2	0	0	1	3	2	3	2	3	2	1	2	3	2	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:21404467G>C	ENST00000313654.9	+	21	2750	c.2509G>C	c.(2509-2511)Gac>Cac	p.D837H	LAMA3_ENST00000399516.3_Missense_Mutation_p.D837H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	837	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.D837N(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTTTTGCAGACCCATTTTC	0.458													31	75					0	0	0	0	C	21404467	G	C	21404467	3	2	270	1	0	0	0	0	1	0	0	0	8660	942	33	2	2591	2	LAMA3	18	21404467	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1643054	21404467	56672781	537	48525											
DYM	54808	broad.mit.edu	37	chr18	46906126	46906126	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttcgaggattgttttCaactgcaagagaagaaaagg	13	11	11	6	1	1	2	1	0	0	2	3	5	2	3	1	2	2	3	1	2	5	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:46906126C>A	ENST00000269445.6	-	4	653	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	66				E -> K (in Ref. 2; BAC11088).		Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGATTGTTTTCAACTGCAAGA	0.303													15	42					2.31682e-05	2.40732e-05	1	0	A	46906126	C	A	46906126	4	1	270	1	0	0	0	0	0	1	0	0	4876	835	29	2	1869	2	DYM	18	46906126	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	25501659	46906126	31171122	538	48526											
ZCCHC2	54877	broad.mit.edu	37	chr18	60212054	60212054	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtaaattggtctgatctttCagtcacaacagtaacaaaaa	16	11	7	7	0	4	1	2	1	2	0	4	1	4	1	0	2	2	2	0	2	6	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr18:60212054C>G	ENST00000269499.5	+	4	1566	c.1148C>G	c.(1147-1149)tCa>tGa	p.S383*	ZCCHC2_ENST00000586834.1_Nonsense_Mutation_p.S62*	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	383					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCTGATCTTTCAGTCACAACA	0.308													2	2					0	0	0	0	G	60212054	C	G	60212054	4	3	270	1	0	0	0	0	0	1	0	0	17682	838	29	2	1162	2	ZCCHC2	18	60212054	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	13305928	60212054	17865194	539	48527											
RTTN	25914	broad.mit.edu	37	chr18	67801735	67801735	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacggaaacaggcaaactGaagaccgatggcaaagaagg	20	2	12	7	2	0	3	0	1	0	2	0	5	0	4	1	4	3	2	1	4	7	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:67801735G>A	ENST00000255674.6	-	23	3214	c.2928C>T	c.(2926-2928)ttC>ttT	p.F976F	RTTN_ENST00000437017.1_Silent_p.F976F|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	976							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAGGCAAACTGAAGACCGATG	0.323													12	28					0	0	0	0	A	67801735	G	A	67801735	2	1	270	1	0	0	0	0	0	0	0	1	13822	1281	45	2		2	RTTN	18	67801735	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	7589681	67801735	10275513	540	48528											
MED16	10025	broad.mit.edu	37	chr19	873569	873569	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgtcttgaggttgatcatGaccttgtcaatgtctacaag	9	14	9	9	1	4	3	2	3	2	0	5	3	5	3	2	1	1	1	2	1	3	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:873569G>C	ENST00000312090.6	-	11	1935	c.1785C>G	c.(1783-1785)gtC>gtG	p.V595V	MED16_ENST00000395808.3_Silent_p.V595V|MED16_ENST00000589119.1_Silent_p.V595V|MED16_ENST00000606828.1_5'UTR|MED16_ENST00000325464.1_Silent_p.V595V|MED16_ENST00000269814.4_Silent_p.V595V			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	595					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		GGTTGATCATGACCTTGTCAA	0.572													21	33					0	0	0	0	C	873569	G	C	873569	2	2	270	1	0	0	0	0	0	0	0	1	9503	1277	45	2		2	MED16	19	873569	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08		873569	58255414	541	48529											
STK11	6794	broad.mit.edu	37	chr19	1220487	1220487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggcaccctcaaaatctccGacctgggcgtggccgaggta	8	7	13	13	3	2	0	1	0	1	0	3	2	2	0	4	4	0	2	4	4	3	1	rs121913315		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1220487G>A	ENST00000326873.7	+	4	1753	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	194	Protein kinase.		D -> N (in PJS).|D -> V (in lung cancer; somatic mutation).|D -> Y (in melanoma; sporadic malignant; somatic mutation).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.D194Y(6)|p.Y156fs*87(4)|p.?(3)|p.D194N(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAATCTCCGACCTGGGCGT	0.677	D194N(ALEXANDERCELLS_LIVER)|D194N(PLCPRF5_LIVER)	14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			4	6					0	0	0	0	A	1220487	G	A	1220487	3	1	270	1	0	0	0	0	1	0	0	0	15377	1058	37	1	594	1	STK11	19	1220487	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	346918	1220487	57908496	542	48530											
STK11	6794	broad.mit.edu	37	chr19	1221270	1221270	+	Frame_Shift_Del	DEL	G	G	-																															acaacatctacaagttgtttGagaacatcgggaaggggagc																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1221270delG	ENST00000326873.7	+	6	1966	c.793delG	c.(793-795)agfs	p.E265fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	265	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGTTGTTTGAGAACATCGG	0.597		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			5	8	---	---	---	---					-	1221270	G	-	1221270	7	5	270	1	0	1	0	1	0	0	0	0	15377	1291	45	0	815	0	STK11	19	1221270	Frame_Shift_Del	DEL	G	TCGA-CV-6961-01A-21D-1912-08	783	1221270	57907713	543	48531	375	2									
STK11	6794	broad.mit.edu	37	chr19	1221279	1221279	+	Missense_Mutation	SNP	G	G	A																															acaagttgtttgagaacatcGggaaggggagctacgccatc																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1221279G>A	ENST00000326873.7	+	6	1975	c.802G>A	c.(802-804)Ggg>Agg	p.G268R		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	268	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGAACATCGGGAAGGGGAG	0.607		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			5	8					0	0	0	0	A	1221279	G	A	1221279	3	1	270	1	0	0	0	0	1	0	0	0	15377	1116	39	1	824	1	STK11	19	1221279	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	9	1221279	57907704	544	48532	375	2									
MBD3	53615	broad.mit.edu	37	chr19	1585105	1585105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctggcggctcttgttcatCttgctcatcagcatcttgcc	4	14	9	14	2	6	0	3	0	3	0	6	0	6	0	1	2	3	5	1	2	0	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1585105C>T	ENST00000590550.2	-	1	424	c.51G>A	c.(49-51)aaG>aaA	p.K17K	MBD3_ENST00000434436.3_Silent_p.K73K|MBD3_ENST00000156825.1_Silent_p.K73K|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000592012.1_Silent_p.K41K			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	73	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTGTTCATCTTGCTCATCA	0.647													6	25					0	0	0	0	T	1585105	C	T	1585105	2	4	270	1	0	0	0	0	0	0	0	1	9413	912	32	2		2	MBD3	19	1585105	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	363826	1585105	57543878	545	48533											
MUC16	94025	broad.mit.edu	37	chr19	9000195	9000195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagagggccaacactggtgTtcttgaacacaggcctgagc	11	7	12	11	0	1	3	0	2	1	1	1	3	1	3	2	3	3	1	2	3	2	2	rs150399289	by1000genomes	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:9000195T>C	ENST00000397910.4	-	55	40765	c.40562A>G	c.(40561-40563)aAc>aGc	p.N13521S	MUC16_ENST00000380951.5_Missense_Mutation_p.N162S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13523	SEA 10.			Missing (in Ref. 3; AAK74120).	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						AACACTGGTGTTCTTGAACAC	0.567													30	39					0	0	0	0	C	9000195	T	C	9000195	3	2	270	1	0	0	0	0	1	0	0	0	10043	1725	60	5	3081	5	MUC16	19	9000195	Missense_Mutation	SNP	T	TCGA-CV-6961-01A-21D-1912-08	7415090	9000195	50128788	546	48534											
MUC16	94025	broad.mit.edu	37	chr19	9011341	9011341	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccattgacatagagactgttCctgtccagggtgtaggggcc	8	10	13	10	0	0	2	0	1	0	1	2	3	2	2	4	3	0	2	4	3	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:9011341C>T	ENST00000397910.4	-	36	39095	c.38892G>A	c.(38890-38892)agG>agA	p.R12964R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12966	SEA 6.				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						AGAGACTGTTCCTGTCCAGGG	0.547													49	150					0	0	0	0	T	9011341	C	T	9011341	2	4	270	1	0	0	0	0	0	0	0	1	10043	854	30	2		2	MUC16	19	9011341	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	11146	9011341	50117642	547	48535											
MUC16	94025	broad.mit.edu	37	chr19	9047213	9047213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcagtgttgggaaagttGtagtgctgtctgtcccagaa	8	12	13	8	1	2	1	1	0	1	1	3	2	3	2	2	1	1	4	2	1	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:9047213G>A	ENST00000397910.4	-	5	34621	c.34418C>T	c.(34417-34419)aCa>aTa	p.T11473I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11475	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						TGGGAAAGTTGTAGTGCTGTC	0.507													30	57					0	0	0	0	A	9047213	G	A	9047213	3	1	270	1	0	0	0	0	1	0	0	0	10043	1377	48	4	9425	4	MUC16	19	9047213	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	35872	9047213	50081770	548	48536											
SPC24	147841	broad.mit.edu	37	chr19	11266370	11266370	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgtggcgccccagcagccgtCgctgctgcgcctccgcgcgg	2	5	15	19	8	0	0	0	0	0	0	2	0	1	0	5	2	4	3	5	2	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:11266370C>G	ENST00000592540.1	-	1	114	c.83G>C	c.(82-84)cGa>cCa	p.R28P		NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN	SPC24, NDC80 kinetochore complex component	28	Interaction with the N-terminus of SPBC25.|Interaction with the NDC80-CDCA1 subcomplex.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						CAGCAGCCGTCGCTGCTGCGC	0.701													3	10					0	0	0	0	G	11266370	C	G	11266370	3	3	270	1	0	0	0	0	1	0	0	0	15111	884	31	3	530	3	SPC24	19	11266370	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2219157	11266370	47862613	549	48537											
ZNF700	90592	broad.mit.edu	37	chr19	12060474	12060474	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccaatgtggtaaagccttCagatgttgcaattcccttcg	11	12	8	10	1	1	1	1	0	0	1	3	1	2	1	3	1	3	3	3	1	5	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:12060474C>T	ENST00000482090.1	+	3	1999	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Silent_p.F545F|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GTAAAGCCTTCAGATGTTGCA	0.423													17	61					0	0	0	0	T	12060474	C	T	12060474	2	4	270	1	0	0	0	0	0	0	0	1	18199	825	29	2		2	ZNF700	19	12060474	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	794104	12060474	47068509	550	48538											
NACC1	112939	broad.mit.edu	37	chr19	13247198	13247198	+	Nonsense_Mutation	SNP	G	G	T																															acgacgagggcgacccctctGagaagctggagctggtgaca																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:13247198G>T	ENST00000292431.4	+	3	1225	c.1099G>T	c.(1099-1101)Gag>Tag	p.E367*		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	367					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CGACCCCTCTGAGAAGCTGGA	0.652													14	51					4.14922e-12	4.47443e-12	1	0	T	13247198	G	T	13247198	4	4	270	1	0	0	0	0	0	1	0	0	10205	1291	45	2	1105	2	NACC1	19	13247198	Nonsense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1186724	13247198	45881785	551	48539	376	2									
NACC1	112939	broad.mit.edu	37	chr19	13247207	13247207	+	Missense_Mutation	SNP	G	G	C																															gcgacccctctgagaagctgGagctggtgacaggtgggccg																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:13247207G>C	ENST00000292431.4	+	3	1234	c.1108G>C	c.(1108-1110)Gag>Cag	p.E370Q		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	370					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGAGAAGCTGGAGCTGGTGAC	0.662													12	46					0	0	0	0	C	13247207	G	C	13247207	3	2	270	1	0	0	0	0	1	0	0	0	10205	1175	41	2	1114	2	NACC1	19	13247207	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	9	13247207	45881776	552	48540	376	2									
C19orf57	79173	broad.mit.edu	37	chr19	14000824	14000824	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggcctgaggtaggagctGatgctggggtacaggggaca	9	6	19	7	0	0	2	0	2	0	0	0	4	0	4	1	7	3	4	1	7	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:14000824G>C	ENST00000454313.1	-	6	903	c.845C>G	c.(844-846)tCa>tGa	p.S282*	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Nonsense_Mutation_p.S282*|C19orf57_ENST00000586783.1_Nonsense_Mutation_p.S282*			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	282					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGTAGGAGCTGATGCTGGGGT	0.711													6	42					0	0	0	0	C	14000824	G	C	14000824	4	2	270	1	0	0	0	0	0	1	0	0	1957	1294	45	2	1080	2	C19orf57	19	14000824	Nonsense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	753617	14000824	45128159	553	48541											
CC2D1A	54862	broad.mit.edu	37	chr19	14020719	14020719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaactggaggctgagttCttggctttggtcgggggcca	7	10	17	7	1	1	2	0	1	1	1	2	4	1	3	1	6	1	3	1	6	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:14020719C>T	ENST00000318003.7	+	2	385	c.144C>T	c.(142-144)ttC>ttT	p.F48F	CC2D1A_ENST00000589606.1_Silent_p.F48F	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	48					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGCTGAGTTCTTGGCTTTGG	0.567													20	67					0	0	0	0	T	14020719	C	T	14020719	2	4	270	1	0	0	0	0	0	0	0	1	2751	912	32	2		2	CC2D1A	19	14020719	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	19895	14020719	45108264	554	48542											
SYDE1	85360	broad.mit.edu	37	chr19	15222217	15222217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcagcggtctgcctatctGaggacctgtaccccgatatc	7	10	11	13	2	2	1	0	1	2	0	3	3	2	2	4	2	4	2	4	2	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:15222217G>A	ENST00000600252.1	+	2	1997	c.355G>A	c.(355-357)Gag>Aag	p.E119K	SYDE1_ENST00000600440.1_Missense_Mutation_p.E395K|SYDE1_ENST00000342784.2_Missense_Mutation_p.E462K			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	462	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CTGCCTATCTGAGGACCTGTA	0.592													4	56					0	0	0	0	A	15222217	G	A	15222217	3	1	270	1	0	0	0	0	1	0	0	0	15526	1291	45	2	1402	2	SYDE1	19	15222217	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1201498	15222217	43906766	555	48543											
SSBP4	170463	broad.mit.edu	37	chr19	18543509	18543509	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagctgcccttgtccccaGatcccctactcctcctcatc	6	10	4	21	0	1	1	1	0	0	1	6	1	5	1	7	0	3	1	7	0	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:18543509G>C	ENST00000270061.6	+	12	970		c.e12-1		SSBP4_ENST00000348495.5_Splice_Site	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4							nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						CTTGTCCCCAGATCCCCTACT	0.647													11	22					0	0	0	0	C	18543509	G	C	18543509	5	2	270	1	0	0	0	0	0	0	1	0	15272	956	33	2	796	2	SSBP4	19	18543509	Splice_Site	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3321292	18543509	40585474	556	48544											
TSSK6	83983	broad.mit.edu	37	chr19	19625897	19625897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgatctgcgcaaagaggtCgcgcgcctgaactccgggga	8	5	16	12	6	1	2	0	1	1	1	3	4	2	3	2	4	2	1	2	4	2	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:19625897C>T	ENST00000360913.3	-	1	941	c.340G>A	c.(340-342)Gac>Aac	p.D114N	TSSK6_ENST00000585580.3_Missense_Mutation_p.D114N			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	114	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.D114N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCAAAGAGGTCGCGCGCCTGA	0.657													22	53					0	0	0	0	T	19625897	C	T	19625897	3	4	270	1	0	0	0	0	1	0	0	0	16767	884	31	1	485	1	TSSK6	19	19625897	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1082388	19625897	39503086	557	48545											
NUDT19	390916	broad.mit.edu	37	chr19	33183199	33183199	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgacaccgatgaccacaaGaccgacaacactgggacgct	13	3	9	16	4	0	2	0	1	0	1	0	6	0	3	4	1	1	1	4	1	2	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:33183199G>A	ENST00000397061.3	+	1	333	c.333G>A	c.(331-333)aaG>aaA	p.K111K		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	111	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					ATGACCACAAGACCGACAACA	0.716													13	27					0	0	0	0	A	33183199	G	A	33183199	2	1	270	1	0	0	0	0	0	0	0	1	10807	933	33	2		2	NUDT19	19	33183199	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	13557302	33183199	25945784	558	48546											
GRAMD1A	57655	broad.mit.edu	37	chr19	35502416	35502416	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggcccgtgaccgctgcttCctcctcatcttccgcctctg	2	11	10	18	3	3	1	1	1	2	0	6	1	6	1	6	2	1	2	6	2	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:35502416C>T	ENST00000599564.1	+	8	896	c.825C>T	c.(823-825)ttC>ttT	p.F275F	GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000411896.2_Silent_p.F181F|GRAMD1A_ENST00000317991.5_Silent_p.F188F			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	188						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCGCTGCTTCCTCCTCATCT	0.617													11	129					0	0	0	0	T	35502416	C	T	35502416	2	4	270	1	0	0	0	0	0	0	0	1	6797	854	30	2		2	GRAMD1A	19	35502416	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2319217	35502416	23626567	559	48547											
USF2	7392	broad.mit.edu	37	chr19	35761375	35761375	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatccaaaatcccttcagcaAtggtggcagtccggcggccg	9	7	12	13	3	1	0	1	0	0	0	4	1	4	0	4	4	1	2	4	4	3	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:35761375A>G	ENST00000222305.3	+	5	492	c.455A>G	c.(454-456)aAt>aGt	p.N152S	USF2_ENST00000379134.3_Intron|USF2_ENST00000343550.5_Missense_Mutation_p.N85S|USF2_ENST00000594064.1_Missense_Mutation_p.N150S|USF2_ENST00000595068.1_Missense_Mutation_p.N152S	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	152					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTTCAGCAATGGTGGCAGT	0.592													23	53					0	0	0	0	G	35761375	A	G	35761375	3	3	270	1	0	0	0	0	1	0	0	0	17129	101	4	5	473	5	USF2	19	35761375	Missense_Mutation	SNP	A	TCGA-CV-6961-01A-21D-1912-08	258959	35761375	23367608	560	48548											
TMEM147	10430	broad.mit.edu	37	chr19	36037925	36037925	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagcatagactccaacatCagtctggtaggcagtcgtgc	11	9	11	10	1	2	2	1	1	1	1	4	2	3	2	1	2	3	3	1	2	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:36037925C>T	ENST00000392204.2	+	4	604	c.276C>T	c.(274-276)atC>atT	p.I92I	TMEM147_ENST00000222284.5_Silent_p.I141I|TMEM147_ENST00000392205.1_Silent_p.I141I	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	141						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACTCCAACATCAGTCTGGTAG	0.567													19	93					0	0	0	0	T	36037925	C	T	36037925	2	4	270	1	0	0	0	0	0	0	0	1	16155	816	29	2		2	TMEM147	19	36037925	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	276550	36037925	23091058	561	48549											
ZNF383	163087	broad.mit.edu	37	chr19	37726940	37726940	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagggaaagagccctggAtggttggcagagagcttaca	14	6	14	7	0	0	2	0	0	0	2	0	5	0	4	1	4	4	3	1	4	4	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:37726940A>G	ENST00000589413.1	+	7	779	c.196A>G	c.(196-198)Atg>Gtg	p.M66V	ZNF383_ENST00000590503.1_Missense_Mutation_p.M66V|ZNF383_ENST00000352998.3_Missense_Mutation_p.M66V			Q8NA42	ZN383_HUMAN	zinc finger protein 383	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGCCCTGGATGGTTGGCAG	0.498													26	71					0	0	0	0	G	37726940	A	G	37726940	3	3	270	1	0	0	0	0	1	0	0	0	17969	333	12	5	206	5	ZNF383	19	37726940	Missense_Mutation	SNP	A	TCGA-CV-6961-01A-21D-1912-08	1689015	37726940	21402043	562	48550											
MAP4K1	11184	broad.mit.edu	37	chr19	39101700	39101700	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagggttacactgagcatCttggtggcgctgggtcgttt	5	12	17	7	2	1	1	0	1	1	0	2	2	1	2	0	5	2	4	0	5	1	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:39101700C>G	ENST00000591517.1	-	11	829	c.801G>C	c.(799-801)aaG>aaC	p.K267N	MAP4K1_ENST00000396857.2_Missense_Mutation_p.K267N|MAP4K1_ENST00000589130.1_Missense_Mutation_p.K263N|MAP4K1_ENST00000586296.1_Missense_Mutation_p.K267N|MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000589002.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	267	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACTGAGCATCTTGGTGGCGC	0.532													6	16					0	0	0	0	G	39101700	C	G	39101700	3	3	270	1	0	0	0	0	1	0	0	0	9328	912	32	2	1850	2	MAP4K1	19	39101700	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1374760	39101700	20027283	563	48551											
MAP4K1	11184	broad.mit.edu	37	chr19	39103253	39103253	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccccacgcctgcctacctGagagggtgcacatcaaagag	11	5	11	14	1	1	2	1	1	0	2	1	4	1	2	5	1	3	1	5	1	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:39103253G>A	ENST00000591517.1	-	9	691	c.663C>T	c.(661-663)ctC>ctT	p.L221L	MAP4K1_ENST00000396857.2_Silent_p.L221L|MAP4K1_ENST00000589130.1_Silent_p.L217L|MAP4K1_ENST00000586296.1_Silent_p.L221L|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589002.1_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	221	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGCCTACCTGAGAGGGTGCA	0.607													13	23					0	0	0	0	A	39103253	G	A	39103253	2	1	270	1	0	0	0	0	0	0	0	1	9328	1277	45	2		2	MAP4K1	19	39103253	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1553	39103253	20025730	564	48552											
LRFN1	57622	broad.mit.edu	37	chr19	39798557	39798557	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggcgccgaggttggtggctCcagggcgccggatcggctcc	3	6	19	13	5	0	0	0	0	0	0	3	2	2	1	4	7	0	3	4	7	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:39798557C>G	ENST00000248668.4	-	2	2031	c.2032G>C	c.(2032-2034)Gag>Cag	p.E678Q		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	678						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTTGGTGGCTCCAGGGCGCCG	0.716													3	8					0	0	0	0	G	39798557	C	G	39798557	3	3	270	1	0	0	0	0	1	0	0	0	9001	864	30	2	287	2	LRFN1	19	39798557	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	695304	39798557	19330426	565	48553											
ZNF546	339327	broad.mit.edu	37	chr19	40519724	40519724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagtgtaaacatgaatttGagagacaagagagacatcag	17	8	11	5	0	1	5	1	2	0	3	1	7	1	5	0	0	2	2	0	0	4	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:40519724G>C	ENST00000347077.4	+	7	763	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	ZNF546_ENST00000600094.1_Missense_Mutation_p.E157Q|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACATGAATTTGAGAGACAAGA	0.358													22	32					0	0	0	0	C	40519724	G	C	40519724	3	2	270	1	0	0	0	0	1	0	0	0	18073	1291	45	2	565	2	ZNF546	19	40519724	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	721167	40519724	18609259	566	48554											
LTBP4	8425	broad.mit.edu	37	chr19	41125251	41125251	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgttgtctcctgcttacaGatgtgaacgagtgtgaaaca	10	12	10	9	1	1	3	0	2	1	1	2	4	1	3	2	0	4	2	2	0	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:41125251G>A	ENST00000308370.7	+	26	3268		c.e26-1		LTBP4_ENST00000545697.1_Splice_Site|LTBP4_ENST00000396819.3_Splice_Site|LTBP4_ENST00000204005.9_Splice_Site|LTBP4_ENST00000243562.9_Splice_Site|LTBP4_ENST00000602240.1_Splice_Site	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4						growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGCTTACAGATGTGAACGA	0.468													38	104					0	0	0	0	A	41125251	G	A	41125251	5	1	270	1	0	0	0	0	0	0	1	0	9140	956	33	2	3661	2	LTBP4	19	41125251	Splice_Site	SNP	G	TCGA-CV-6961-01A-21D-1912-08	605527	41125251	18003732	567	48555											
SNRPA	6626	broad.mit.edu	37	chr19	41257373	41257373	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaacaacctcaatgagaaGatcaagaaggatggtgagtt	17	8	10	6	0	3	4	3	2	0	3	3	6	3	5	1	2	2	1	1	2	6	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:41257373G>C	ENST00000243563.3	+	1	610	c.60G>C	c.(58-60)aaG>aaC	p.K20N	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	20	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCAATGAGAAGATCAAGAAGG	0.522													47	91					0	0	0	0	C	41257373	G	C	41257373	3	2	270	1	0	0	0	0	1	0	0	0	14947	933	33	2	62	2	SNRPA	19	41257373	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	132122	41257373	17871610	568	48556											
BLOC1S3	388552	broad.mit.edu	37	chr19	45683082	45683082	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggccgagcgtctggacatCgtggctggctgccgcctgct	3	9	15	14	4	1	0	0	0	1	0	2	2	1	1	3	4	3	3	3	4	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:45683082C>G	ENST00000433642.2	+	2	624	c.528C>G	c.(526-528)atC>atG	p.I176M	AC005779.2_ENST00000593083.1_Missense_Mutation_p.I1M|BLOC1S3_ENST00000587722.1_Missense_Mutation_p.I176M	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	176					cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding			ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GTCTGGACATCGTGGCTGGCT	0.726									Hermansky-Pudlak syndrome				9	22					0	0	0	0	G	45683082	C	G	45683082	3	3	270	1	0	0	0	0	1	0	0	0	1455	874	31	3	530	3	BLOC1S3	19	45683082	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	4425709	45683082	13445901	569	48557											
OPA3	80207	broad.mit.edu	37	chr19	46056955	46056955	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acctcgtcccgcagcgcgttCcaggcagcacgctgctcctc	5	7	10	19	5	0	0	0	0	0	0	5	0	3	0	4	1	3	6	4	1	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:46056955C>G	ENST00000263275.4	-	2	411	c.357G>C	c.(355-357)tgG>tgC	p.W119C	OPA3_ENST00000544371.1_Missense_Mutation_p.W66C|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	119					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GCAGCGCGTTCCAGGCAGCAC	0.716													6	20					0	0	0	0	G	46056955	C	G	46056955	3	3	270	1	0	0	0	0	1	0	0	0	10943	856	30	2	591	2	OPA3	19	46056955	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	373873	46056955	13072028	570	48558											
CCDC9	26093	broad.mit.edu	37	chr19	47763996	47763996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagccccggggagcagcctcGaggaggaggagctgggggcc	7	2	20	12	2	0	0	0	0	0	0	1	5	0	4	4	7	4	2	4	7	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:47763996G>A	ENST00000221922.6	+	5	584	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	121	Gly-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGCAGCCTCGAGGAGGAGGA	0.716													12	24					0	0	0	0	A	47763996	G	A	47763996	3	1	270	1	0	0	0	0	1	0	0	0	2894	1058	37	1	376	1	CCDC9	19	47763996	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1707041	47763996	11364987	571	48559											
GLTSCR1	29998	broad.mit.edu	37	chr19	48185361	48185361	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgccaaaggagctggcctCggccctcaggcccccgacag	7	4	13	17	3	1	0	1	0	0	0	3	2	1	1	5	4	1	1	5	4	1	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:48185361C>T	ENST00000396720.3	+	7	2429	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	745							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GAGCTGGCCTCGGCCCTCAGG	0.741													3	7					0	0	0	0	T	48185361	C	T	48185361	2	4	270	1	0	0	0	0	0	0	0	1	6525	871	31	1		1	GLTSCR1	19	48185361	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	421365	48185361	10943622	572	48560											
HRC	3270	broad.mit.edu	37	chr19	49657579	49657579	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggagacatcatcatcatCattgtcatcttcttcatggc	10	14	7	10	0	8	1	6	0	2	1	8	2	8	1	0	2	0	0	0	2	0	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:49657579C>G	ENST00000252825.4	-	1	1102	c.916G>C	c.(916-918)Gat>Cat	p.D306H	HRC_ENST00000595625.1_Missense_Mutation_p.D306H	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	306	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCATCATCATCATTGTCATCT	0.532													17	55					0	0	0	0	G	49657579	C	G	49657579	3	3	270	1	0	0	0	0	1	0	0	0	7402	826	29	2	1207	2	HRC	19	49657579	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1472218	49657579	9471404	573	48561											
ALDH16A1	126133	broad.mit.edu	37	chr19	49967126	49967126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaggtgttccaggctggtGatgtgccttcggaacgccca	6	10	13	12	2	0	1	0	1	0	0	2	2	1	2	4	4	2	2	4	4	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:49967126G>A	ENST00000293350.4	+	9	1277	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	CTD-3148I10.9_ENST00000599536.1_Silent_p.*7*|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D321N|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.D207N|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.D209N	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	372							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCAGGCTGGTGATGTGCCTTC	0.602													49	221					0	0	0	0	A	49967126	G	A	49967126	3	1	270	1	0	0	0	0	1	0	0	0	488	1290	45	2	1148	2	ALDH16A1	19	49967126	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	309547	49967126	9161857	574	48562											
KLK4	9622	broad.mit.edu	37	chr19	51410250	51410250	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagaggttggtgtagacAcctggcacgccaacttggcc	8	9	13	11	1	0	2	0	0	0	2	0	2	0	2	3	4	2	4	3	4	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:51410250A>C	ENST00000324041.1	-	5	704	c.705T>G	c.(703-705)ggT>ggG	p.G235G	KLK4_ENST00000431178.2_3'UTR	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	235	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TGGTGTAGACACCTGGCACGC	0.552													33	96					0	0	0	0	C	51410250	A	C	51410250	2	2	270	1	0	0	0	0	0	0	0	1	8458	146	6	5		5	KLK4	19	51410250	Silent	SNP	A	TCGA-CV-6961-01A-21D-1912-08	1443124	51410250	7718733	575	48563											
ZNF766	90321	broad.mit.edu	37	chr19	52793884	52793884	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgagtgtggcaaggtcttCagtcgaattacataccttgt	11	13	10	7	1	2	1	1	1	1	0	3	2	2	1	1	2	2	1	1	2	5	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:52793884C>T	ENST00000439461.1	+	4	883	c.840C>T	c.(838-840)ttC>ttT	p.F280F	ZNF766_ENST00000359102.4_Silent_p.F295F|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Silent_p.F295F	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GCAAGGTCTTCAGTCGAATTA	0.403													7	24					0	0	0	0	T	52793884	C	T	52793884	2	4	270	1	0	0	0	0	0	0	0	1	18234	825	29	2		2	ZNF766	19	52793884	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1383634	52793884	6335099	576	48564											
LILRA6	79168	broad.mit.edu	37	chr19	54744933	54744933	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgacatcagagccacactgGagggtcaggctctgcccagg	9	5	13	14	1	3	1	2	0	1	1	3	3	3	2	3	4	2	1	3	4	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:54744933G>A	ENST00000440558.2	-	5	777	c.729C>T	c.(727-729)ctC>ctT	p.L243L	LILRA6_ENST00000396365.2_Silent_p.L243L|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Silent_p.L243L|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Silent_p.L243L					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.L243L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCCACACTGGAGGGTCAGGC	0.637													13	95					0	0	0	0	A	54744933	G	A	54744933	2	1	270	1	0	0	0	0	0	0	0	1	8843	1161	41	2		2	LILRA6	19	54744933	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1951049	54744933	4384050	577	48565											
FCAR	2204	broad.mit.edu	37	chr19	55401037	55401037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatccaccaagattacacGacgcagaacttgatccgcat	13	8	6	14	3	0	3	0	1	0	2	3	4	3	3	4	0	2	2	4	0	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:55401037G>A	ENST00000391723.3	+	4	562	c.562G>A	c.(562-564)Gac>Aac	p.D188N	FCAR_ENST00000353758.4_Silent_p.T115T|FCAR_ENST00000345937.4_Silent_p.T128T|FCAR_ENST00000359272.4_Silent_p.T212T|FCAR_ENST00000391725.3_Silent_p.T202T|FCAR_ENST00000355524.3_Silent_p.T224T|FCAR_ENST00000391726.3_Silent_p.T116T|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Silent_p.T190T	NM_133274.2	NP_579808.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AAGATTACACGACGCAGAACT	0.532													102	303					0	0	0	0	A	55401037	G	A	55401037	3	1	270	1	0	0	0	0	1	0	0	0	5818	1058	37	1	761	1	FCAR	19	55401037	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	656104	55401037	3727946	578	48566											
FCAR	2204	broad.mit.edu	37	chr19	55401049	55401049	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattacacgacgcagaacttGatccgcatggccgtggcagg	10	7	13	11	4	0	2	0	1	0	1	1	4	1	2	2	3	2	3	2	3	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:55401049G>C	ENST00000355524.3	+	5	694	c.684G>C	c.(682-684)ttG>ttC	p.L228F	FCAR_ENST00000353758.4_Missense_Mutation_p.L119F|FCAR_ENST00000345937.4_Missense_Mutation_p.L132F|FCAR_ENST00000391723.3_Missense_Mutation_p.D192H|FCAR_ENST00000359272.4_Missense_Mutation_p.L216F|FCAR_ENST00000391725.3_Missense_Mutation_p.L206F|FCAR_ENST00000391726.3_Missense_Mutation_p.L120F|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Missense_Mutation_p.L194F	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	228					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CGCAGAACTTGATCCGCATGG	0.537													108	317					0	0	0	0	C	55401049	G	C	55401049	3	2	270	1	0	0	0	0	1	0	0	0	5818	1290	45	2	773	2	FCAR	19	55401049	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	12	55401049	3727934	579	48567											
ZNF784	147808	broad.mit.edu	37	chr19	56133815	56133815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaccctgcccgcctccctCggccccagccaagtggccat	5	5	8	23	2	0	0	0	0	0	0	2	0	1	0	9	2	2	0	9	2	1	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:56133815C>T	ENST00000325351.4	-	2	313	c.274G>A	c.(274-276)Gag>Aag	p.E92K	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCGCCTCCCTCGGCCCCAGCC	0.711													5	18					0	0	0	0	T	56133815	C	T	56133815	3	4	270	1	0	0	0	0	1	0	0	0	18249	893	31	1	701	1	ZNF784	19	56133815	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	732766	56133815	2995168	580	48568											
ZNF671	79891	broad.mit.edu	37	chr19	58233748	58233748	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atatccacctggtcatacacCcagggctcttctcctcgctc	7	11	6	17	1	3	0	1	0	2	0	7	0	4	0	4	2	1	2	4	2	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:58233748C>A	ENST00000317398.6	-	3	419	c.324G>T	c.(322-324)tgG>tgT	p.W108C	ZNF671_ENST00000335820.3_Missense_Mutation_p.W10C|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000596939.1_3'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	108	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGTCATACACCCAGGGCTCTT	0.537													10	209					7.48243e-07	7.85655e-07	1	0	A	58233748	C	A	58233748	3	1	270	1	0	0	0	0	1	0	0	0	18173	624	22	4	1288	4	ZNF671	19	58233748	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2099933	58233748	895235	581	48569											
ZNF584	201514	broad.mit.edu	37	chr19	58921347	58921347	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagggcttggtgatgtttGaggatgtgacggtatatttc	7	15	15	4	1	0	3	0	3	0	0	1	4	0	4	0	4	1	4	0	4	2	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:58921347G>C	ENST00000306910.4	+	2	581	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	ZNF584_ENST00000599238.1_Intron|ZNF584_ENST00000322834.7_Missense_Mutation_p.E12Q|ZNF584_ENST00000596281.1_Intron|ZNF584_ENST00000593920.1_Intron|ZNF584_ENST00000596921.1_Intron	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GGTGATGTTTGAGGATGTGAC	0.498													23	81					0	0	0	0	C	58921347	G	C	58921347	3	2	270	1	0	0	0	0	1	0	0	0	18111	1291	45	2	64	2	ZNF584	19	58921347	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	687599	58921347	207636	582	48570											
TBC1D20	128637	broad.mit.edu	37	chr20	428599	428599	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacacttttcgtctgatctCatcagtcaggagccctcctt	7	13	6	15	1	4	1	3	1	2	0	7	2	5	2	3	1	1	0	3	1	0	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:428599C>A	ENST00000354200.4	-	2	337	c.190G>T	c.(190-192)Gag>Tag	p.E64*		NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	64	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CGTCTGATCTCATCAGTCAGG	0.532													13	47					6.31663e-08	6.67638e-08	1	0	A	428599	C	A	428599	4	1	270	1	0	0	0	0	0	1	0	0	15700	835	29	2	1049	2	TBC1D20	20	428599	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08		428599	62596921	583	48571											
TMC2	117532	broad.mit.edu	37	chr20	2560666	2560666	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatggagttaaccttgtcctTtttggcttaatatttggtct	7	20	8	6	0	1	0	0	0	1	0	2	1	2	1	2	3	1	2	2	3	4	8			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:2560666T>A	ENST00000358864.1	+	7	813	c.798T>A	c.(796-798)ctT>ctA	p.L266L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	266						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACCTTGTCCTTTTTGGCTTAA	0.393													6	82					0	0	0	0	A	2560666	T	A	2560666	2	1	270	1	0	0	0	0	0	0	0	1	16079	1828	64	5		5	TMC2	20	2560666	Silent	SNP	T	TCGA-CV-6961-01A-21D-1912-08	2132067	2560666	60464854	584	48572											
C20orf194	25943	broad.mit.edu	37	chr20	3299010	3299010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctaaacaaccattgcctCccagtaagtcaggaatgtca	14	9	6	12	0	2	0	2	0	0	0	4	1	4	1	4	1	3	1	4	1	5	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:3299010C>A	ENST00000252032.9	-	17	1461	c.1394G>T	c.(1393-1395)gGa>gTa	p.G465V	C20orf194_ENST00000453730.2_Missense_Mutation_p.G203V	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	465										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ACCATTGCCTCCCAGTAAGTC	0.388													25	61					3.73148e-12	4.02939e-12	1	0	A	3299010	C	A	3299010	3	1	270	1	0	0	0	0	1	0	0	0	2119	855	30	2	2223	2	C20orf194	20	3299010	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	738344	3299010	59726510	585	48573											
PRND	23627	broad.mit.edu	37	chr20	4705248	4705248	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccactgtctgcatgctgctCttcagccacctctctgcggt	4	12	9	16	1	4	0	1	0	3	0	5	0	4	0	3	1	5	3	3	1	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:4705248C>G	ENST00000305817.2	+	2	122	c.51C>G	c.(49-51)ctC>ctG	p.L17L		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	17					protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCATGCTGCTCTTCAGCCACC	0.632													23	64					0	0	0	0	G	4705248	C	G	4705248	2	3	270	1	0	0	0	0	0	0	0	1	12623	900	32	2		2	PRND	20	4705248	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1406238	4705248	58320272	586	48574											
DTD1	92675	broad.mit.edu	37	chr20	18724748	18724748	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttttatttaatcagctgtCaaagctcgaaaaacagcagc	15	12	6	8	1	2	0	2	0	0	0	3	1	2	0	0	0	5	3	0	0	5	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:18724748C>G	ENST00000377452.3	+	5	662	c.482C>G	c.(481-483)tCa>tGa	p.S161*		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	161					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						aatCAGCTGTCAAAGCTCGAA	0.413													5	8					0	0	0	0	G	18724748	C	G	18724748	4	3	270	1	0	0	0	0	0	1	0	0	4822	838	29	2	500	2	DTD1	20	18724748	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	14019500	18724748	44300772	587	48575											
MYH7B	57644	broad.mit.edu	37	chr20	33567491	33567491	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcgtgaagccgagctgCagcccatgaacccgcctcgc	7	6	13	15	4	0	2	0	2	0	0	1	3	0	2	4	1	6	2	4	1	2	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:33567491C>T	ENST00000262873.7	+	5	444	c.352C>T	c.(352-354)Cag>Tag	p.Q118*		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	76	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCCGAGCTGCAGCCCATGAA	0.647													25	87					0	0	0	0	T	33567491	C	T	33567491	4	4	270	1	0	0	0	0	0	1	0	0	10110	711	25	4	370	4	MYH7B	20	33567491	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	14842743	33567491	29458029	588	48576											
CEP250	11190	broad.mit.edu	37	chr20	34054793	34054793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtttctgaacacacagttCttcaagggctacctgaaagg	11	10	11	9	0	3	2	1	2	2	0	3	2	3	2	1	3	2	3	1	3	4	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34054793C>T	ENST00000397527.1	+	8	1215	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CEP250_ENST00000342580.4_Silent_p.F165F|CEP250_ENST00000397524.1_Silent_p.F165F	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	165					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACACACAGTTCTTCAAGGGCT	0.522													18	42					0	0	0	0	T	34054793	C	T	34054793	2	4	270	1	0	0	0	0	0	0	0	1	3281	912	32	2		2	CEP250	20	34054793	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	487302	34054793	28970727	589	48577			4	74		3	3	88	N	G_C	1.62212e-06
CEP250	11190	broad.mit.edu	37	chr20	34054830	34054830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggggagcacggtcgccttCtcagtctatggcgggaggtt	7	9	16	9	3	2	0	1	0	2	0	4	2	2	2	1	6	1	2	1	6	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34054830C>T	ENST00000397527.1	+	8	1252	c.532C>T	c.(532-534)Ctc>Ttc	p.L178F	CEP250_ENST00000342580.4_Missense_Mutation_p.L178F|CEP250_ENST00000397524.1_Missense_Mutation_p.L178F	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	178					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGGTCGCCTTCTCAGTCTATG	0.532													17	45					0	0	0	0	T	34054830	C	T	34054830	3	4	270	1	0	0	0	0	1	0	0	0	3281	913	32	2	550	2	CEP250	20	34054830	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	37	34054830	28970690	590	48578			4	74		3	3	88	N	G_C	1.62212e-06
CEP250	11190	broad.mit.edu	37	chr20	34054880	34054880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgacgccacttcctggaaatGaagtcagctactgacaggtc	11	8	10	12	2	1	2	1	2	0	0	3	4	2	3	2	2	2	1	2	2	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34054880G>C	ENST00000397527.1	+	8	1302	c.582G>C	c.(580-582)atG>atC	p.M194I	CEP250_ENST00000342580.4_Missense_Mutation_p.M194I|CEP250_ENST00000397524.1_Missense_Mutation_p.M194I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	194					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCCTGGAAATGAAGTCAGCTA	0.527													16	45					0	0	0	0	C	34054880	G	C	34054880	3	2	270	1	0	0	0	0	1	0	0	0	3281	1290	45	2	600	2	CEP250	20	34054880	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	50	34054880	28970640	591	48579			4	74		3	3	88	N	G_C	1.62212e-06
SPAG4	6676	broad.mit.edu	37	chr20	34206846	34206846	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgccctccctccttgcagaGagtggccaagctcgtgttcc	5	10	10	16	2	0	1	0	0	0	1	5	2	3	1	5	1	2	3	5	1	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34206846G>C	ENST00000374273.3	+	8	831	c.717_splice	c.e8-1	p.R240_splice		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	240					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TCCTTGCAGAGAGTGGCCAAG	0.592													14	57					0	0	0	0	C	34206846	G	C	34206846	5	2	270	1	0	0	0	0	0	0	1	0	15070	956	33	2	749	2	SPAG4	20	34206846	Splice_Site	SNP	G	TCGA-CV-6961-01A-21D-1912-08	151966	34206846	28818674	592	48580											
DLGAP4	22839	broad.mit.edu	37	chr20	35155390	35155390	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcagccaccgagagcgcaGacagcatcgagatttatgtc	12	7	10	12	3	1	3	1	0	0	3	3	5	1	3	2	0	3	2	2	0	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:35155390G>C	ENST00000373913.3	+	13	3406	c.2926G>C	c.(2926-2928)Gac>Cac	p.D976H	DLGAP4_ENST00000340491.4_Missense_Mutation_p.D440H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.D979H|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000373907.2_Missense_Mutation_p.D979H|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000401952.2_Missense_Mutation_p.D976H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	979					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGAGAGCGCAGACAGCATCGA	0.557													10	50					0	0	0	0	C	35155390	G	C	35155390	3	2	270	1	0	0	0	0	1	0	0	0	4599	942	33	2	3096	2	DLGAP4	20	35155390	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	948544	35155390	27870130	593	48581											
VSTM2L	128434	broad.mit.edu	37	chr20	36572481	36572481	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtgccgcgtcatcgacttCagcgacggcaaggcccggca	8	5	14	14	6	2	0	2	0	0	0	3	3	2	0	2	3	2	2	2	3	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:36572481C>T	ENST00000373459.4	+	2	460	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	VSTM2L_ENST00000373461.4_Silent_p.F147F|VSTM2L_ENST00000373458.3_Silent_p.F130F			Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	0	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				TCATCGACTTCAGCGACGGCA	0.672													8	20					0	0	0	0	T	36572481	C	T	36572481	4	4	270	1	0	0	0	0	0	1	0	0	17326	825	29	2	455	2	VSTM2L	20	36572481	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1417091	36572481	26453039	594	48582											
SDC4	6385	broad.mit.edu	37	chr20	43964468	43964468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatcagattcctgcccGggccccactacatcctcatc	9	9	6	17	1	3	1	3	0	0	1	6	1	5	1	5	1	2	0	5	1	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:43964468G>A	ENST00000372733.3	-	2	192	c.153C>T	c.(151-153)ccC>ccT	p.P51P	SDC4_ENST00000537976.1_Intron	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	51						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	p.P51P(1)	SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				ATTCCTGCCCGGGCCCCACTA	0.582			T	ROS1	NSCLC								31	47					0	0	0	0	A	43964468	G	A	43964468	2	1	270	1	0	0	0	0	0	0	0	1	14041	1103	39	1		1	SDC4	20	43964468	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	7391987	43964468	19061052	595	48583											
NFATC2	4773	broad.mit.edu	37	chr20	50140540	50140540	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaatcggccggggggctcGccagagagactagcaagggg	9	3	18	11	4	0	2	0	0	0	2	2	4	0	2	3	6	1	2	3	6	3	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:50140540G>A	ENST00000371564.3	-	2	459	c.240C>T	c.(238-240)ggC>ggT	p.G80G	NFATC2_ENST00000414705.1_Silent_p.G60G|NFATC2_ENST00000396009.3_Silent_p.G80G	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	80					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGGGGGCTCGCCAGAGAGAC	0.657													22	75					0	0	0	0	A	50140540	G	A	50140540	2	1	270	1	0	0	0	0	0	0	0	1	10432	1074	38	1		1	NFATC2	20	50140540	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	6176072	50140540	12884980	596	48584											
LSM14B	149986	broad.mit.edu	37	chr20	60706468	60706468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtggtgacccagagtgccGaagcgcccgctgaggaagac	9	5	15	12	3	0	4	0	2	0	2	0	6	0	5	3	2	2	1	3	2	2	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:60706468G>A	ENST00000253001.4	+	7	1098	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	LSM14B_ENST00000279068.6_Missense_Mutation_p.E298K			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	298					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCAGAGTGCCGAAGCGCCCGC	0.537													7	27					0	0	0	0	A	60706468	G	A	60706468	3	1	270	1	0	0	0	0	1	0	0	0	9119	1059	37	1	918	1	LSM14B	20	60706468	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	10565928	60706468	2319052	597	48585											
LAMA5	3911	broad.mit.edu	37	chr20	60942119	60942119	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctctccgcaggtcgcGgaggcggcgatgcgggcgcc	3	5	17	16	7	1	0	0	0	1	0	4	2	2	1	4	5	1	1	4	5	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:60942119G>A	ENST00000252999.3	-	1	249	c.183C>T	c.(181-183)tcC>tcT	p.S61S	LAMA5_ENST00000370677.3_Silent_p.S61S|LAMA5_ENST00000370692.3_Silent_p.S61S	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	61	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCAGGTCGCGGAGGCGGCGA	0.791													2	0					0	0	0	0	A	60942119	G	A	60942119	2	1	270	1	0	0	0	0	0	0	0	1	8662	1103	39	1		1	LAMA5	20	60942119	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	235651	60942119	2083401	598	48586											
RTEL1	51750	broad.mit.edu	37	chr20	62298846	62298846	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgcccttactacctgtcccgGaacctgaagcagcaagccga	10	7	9	15	2	0	1	0	1	0	0	1	3	1	2	5	1	7	2	5	1	5	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:62298846G>C	ENST00000318100.4	+	8	1466	c.639G>C	c.(637-639)cgG>cgC	p.R213R	RTEL1_ENST00000508582.2_Silent_p.R237R|RTEL1_ENST00000370018.3_Silent_p.R213R|RTEL1_ENST00000360203.5_Silent_p.R213R|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.R213R			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	213	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			ACCTGTCCCGGAACCTGAAGC	0.572													61	145					0	0	0	0	C	62298846	G	C	62298846	2	2	270	1	0	0	0	0	0	0	0	1	13805	1161	41	2		2	RTEL1	20	62298846	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1356727	62298846	726674	599	48587											
PCMTD2	55251	broad.mit.edu	37	chr20	62904683	62904683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaacggaaacggactaaaGaacacccccaggtttaaacg	19	4	8	10	3	0	1	0	0	0	1	0	3	0	3	2	3	4	1	2	3	8	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:62904683G>C	ENST00000308824.6	+	6	943	c.816G>C	c.(814-816)aaG>aaC	p.K272N	PCMTD2_ENST00000369758.3_Missense_Mutation_p.K245N|PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.6_Missense_Mutation_p.K48N	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	272						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACGGACTAAAGAACACCCCCA	0.493													27	87					0	0	0	0	C	62904683	G	C	62904683	3	2	270	1	0	0	0	0	1	0	0	0	11658	933	33	2	834	2	PCMTD2	20	62904683	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	605837	62904683	120837	600	48588											
KRTAP27-1	643812	broad.mit.edu	37	chr21	31709486	31709486	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacaggaactggattcaggGttctgagactgacactgaca	12	9	11	9	0	2	3	1	3	1	1	2	6	2	5	0	3	2	1	0	3	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:31709486G>A	ENST00000382835.2	-	1	526	c.501C>T	c.(499-501)aaC>aaT	p.N167N		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	167						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TGGATTCAGGGTTCTGAGACT	0.478													31	78					0	0	0	0	A	31709486	G	A	31709486	2	1	270	1	0	0	0	0	0	0	0	1	8597	1252	44	4		4	KRTAP27-1	21	31709486	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08		31709486	16420409	601	48589											
TIAM1	7074	broad.mit.edu	37	chr21	32493057	32493057	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggctgctgggactcttTctccgggctgcttgcggaga	3	10	18	10	2	2	1	0	0	2	1	3	3	2	2	1	6	3	4	1	6	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:32493057T>C	ENST00000286827.3	-	29	4876	c.4405A>G	c.(4405-4407)Aaa>Gaa	p.K1469E	TIAM1_ENST00000541036.1_Missense_Mutation_p.K1409E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1469					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGGGACTCTTTCTCCGGGCTG	0.577													3	58					0	0	0	0	C	32493057	T	C	32493057	3	2	270	1	0	0	0	0	1	0	0	0	15984	1792	62	5	374	5	TIAM1	21	32493057	Missense_Mutation	SNP	T	TCGA-CV-6961-01A-21D-1912-08	783571	32493057	15636838	602	48590											
SOD1	6647	broad.mit.edu	37	chr21	33031995	33031995	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taaagtagtcgcggagacggGgtgctggtttgcgtcgtagt	7	11	17	6	5	0	1	0	0	0	1	2	2	0	1	0	4	2	4	0	4	4	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:33031995G>A	ENST00000270142.6	+	0	61				SOD1_ENST00000389995.4_De_novo_Start_InFrame	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble						activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)	4						GCGGAGACGGGGTGCTGGTTT	0.662													5	9					0	0	0	0	A	33031995	G	A	33031995	1	1	270	1	0	0	0	0	0	0	0	0	15008	1247	43	4		4	SOD1	21	33031995	Translation_Start_Site	SNP	G	TCGA-CV-6961-01A-21D-1912-08	538938	33031995	15097900	603	48591											
RUNX1	861	broad.mit.edu	37	chr21	36171624	36171624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcgactggaaagttctgcaGagagggttgtcatgccgctg	8	10	15	8	2	2	1	1	0	1	1	3	4	2	2	1	2	2	4	1	2	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:36171624G>A	ENST00000344691.4	-	5	2437	c.860C>T	c.(859-861)tCt>tTt	p.S287F	RUNX1_ENST00000437180.1_Missense_Mutation_p.S314F|RUNX1_ENST00000300305.3_Missense_Mutation_p.S314F|RUNX1_ENST00000399240.1_Missense_Mutation_p.S223F|RUNX1_ENST00000325074.5_Missense_Mutation_p.S302F	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	287	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S314fs*168(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						AAGTTCTGCAGAGAGGGTTGT	0.532			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"								6	97					0	0	0	0	A	36171624	G	A	36171624	3	1	270	1	0	0	0	0	1	0	0	0	13831	942	33	2	509	2	RUNX1	21	36171624	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3139629	36171624	11958271	604	48592											
RUNX1	861	broad.mit.edu	37	chr21	36171681	36171681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcgttgctgggtgcacaGaaggagaggcaatggatccc	9	7	17	8	1	0	2	0	0	0	2	1	4	1	3	1	5	2	4	1	5	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:36171681G>A	ENST00000344691.4	-	5	2380	c.803C>T	c.(802-804)tCt>tTt	p.S268F	RUNX1_ENST00000437180.1_Missense_Mutation_p.S295F|RUNX1_ENST00000300305.3_Missense_Mutation_p.S295F|RUNX1_ENST00000399240.1_Missense_Mutation_p.S204F|RUNX1_ENST00000325074.5_Missense_Mutation_p.S283F	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	268	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGGGTGCACAGAAGGAGAGGC	0.522			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"								7	79					0	0	0	0	A	36171681	G	A	36171681	3	1	270	1	0	0	0	0	1	0	0	0	13831	942	33	2	566	2	RUNX1	21	36171681	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	57	36171681	11958214	605	48593											
ETS2	2114	broad.mit.edu	37	chr21	40191453	40191453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaagaccacgactcccctGagaacggtgcggacagcttc	11	5	10	15	3	0	2	0	1	0	2	2	5	1	3	4	2	3	1	4	2	2	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40191453G>A	ENST00000360214.3	+	9	1298	c.838G>A	c.(838-840)Gag>Aag	p.E280K	ETS2_ENST00000360938.3_Missense_Mutation_p.E280K	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	280					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CGACTCCCCTGAGAACGGTGC	0.557													46	34					0	0	0	0	A	40191453	G	A	40191453	3	1	270	1	0	0	0	0	1	0	0	0	5314	1291	45	2	864	2	ETS2	21	40191453	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	4019772	40191453	7938442	606	48594											
ETS2	2114	broad.mit.edu	37	chr21	40194646	40194646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataagcccaagatgaactacGagaagctgagccggggctta	14	6	12	9	2	0	4	0	2	0	2	0	5	0	4	2	2	5	2	2	2	6	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40194646G>A	ENST00000360214.3	+	11	1703	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	ETS2_ENST00000360938.3_Missense_Mutation_p.E415K	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	415					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GATGAACTACGAGAAGCTGAG	0.493													60	44					0	0	0	0	A	40194646	G	A	40194646	3	1	270	1	0	0	0	0	1	0	0	0	5314	1059	37	1	1277	1	ETS2	21	40194646	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3193	40194646	7935249	607	48595											
ETS2	2114	broad.mit.edu	37	chr21	40194812	40194812	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccgacacggaggactGaggtcgccgggaccaccctg	8	3	14	16	4	0	1	0	1	0	0	1	5	0	4	5	4	1	0	5	4	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40194812G>T	ENST00000360214.3	+	11	1869	c.1409G>T	c.(1408-1410)tGa>tTa	p.*470L	ETS2_ENST00000360938.3_Nonstop_Mutation_p.*470L	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	0					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				ACGGAGGACTGAGGTCGCCGG	0.657													31	11					1.74807e-11	1.88e-11	1	0	T	40194812	G	T	40194812	4	4	270	1	0	0	0	0	0	0	0	0	5314	1285	45	2	1443	2	ETS2	21	40194812	Nonstop_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	166	40194812	7935083	608	48596											
PSMG1	8624	broad.mit.edu	37	chr21	40549373	40549373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttaccttaaccaaaccCttcaagcttctggtagaaag	14	10	5	12	0	2	1	1	0	1	1	2	1	2	1	4	1	5	2	4	1	7	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40549373C>G	ENST00000331573.3	-	6	1245	c.780G>C	c.(778-780)aaG>aaC	p.K260N	PSMG1_ENST00000380900.2_Missense_Mutation_p.K239N	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	260					proteasome assembly	endoplasmic reticulum	protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TAACCAAACCCTTCAAGCTTC	0.323													8	21					0	0	0	0	G	40549373	C	G	40549373	3	3	270	1	0	0	0	0	1	0	0	0	12790	680	24	4	94	4	PSMG1	21	40549373	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	354561	40549373	7580522	609	48597											
FAM3B	54097	broad.mit.edu	37	chr21	42694889	42694889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtcttcgcctccttgtGtgcctggtattcggggtacc	2	14	13	12	3	1	0	0	0	1	0	4	0	2	0	4	4	2	2	4	4	2	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:42694889G>T	ENST00000398652.3	+	3	242	c.176G>T	c.(175-177)tGt>tTt	p.C59F	FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000398646.3_Missense_Mutation_p.C43F|FAM3B_ENST00000357985.2_Missense_Mutation_p.C20F|FAM3B_ENST00000479810.2_3'UTR			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	20					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GCCTCCTTGTGTGCCTGGTAT	0.622													9	44					0.000442599	0.000456323	1	0	T	42694889	G	T	42694889	3	4	270	1	0	0	0	0	1	0	0	0	5604	1377	48	4	65	4	FAM3B	21	42694889	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2145516	42694889	5435006	610	48598											
RRP1B	23076	broad.mit.edu	37	chr21	45104516	45104516	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttcaacaggaagcgcctctCcaaactcatcaagaagtcag	14	7	7	13	1	5	1	4	0	1	1	6	2	5	2	2	1	3	0	2	1	5	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45104516C>G	ENST00000340648.4	+	10	1091	c.974C>G	c.(973-975)tCc>tGc	p.S325C		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	325					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AAGCGCCTCTCCAAACTCATC	0.488													4	44					0	0	0	0	G	45104516	C	G	45104516	3	3	270	1	0	0	0	0	1	0	0	0	13773	855	30	2	1012	2	RRP1B	21	45104516	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	2409627	45104516	3025379	611	48599											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959218	45959218	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggagcacgcggggcggcaGaggagggacacgcaggaggc	9	0	22	10	5	0	1	0	0	0	1	0	5	0	5	0	8	1	3	0	8	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45959218G>A	ENST00000400375.1	-	1	860	c.816C>T	c.(814-816)ctC>ctT	p.L272L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	272						keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CGGGGCGGCAGAGGAGGGACA	0.726													12	22					0	0	0	0	A	45959218	G	A	45959218	2	1	270	1	0	0	0	0	0	0	0	1	8557	929	33	2		2	KRTAP10-1	21	45959218	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	854702	45959218	2170677	612	48600			5	75		3	3	611	G		7.995752e-05
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959660	45959660	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaagttggctggcagctaGactgctggcagcatgaagag	11	7	15	8	0	0	3	0	1	0	2	0	3	0	3	0	3	4	8	0	3	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45959660G>C	ENST00000400375.1	-	1	418	c.374C>G	c.(373-375)tCt>tGt	p.S125C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	125	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CTGGCAGCTAGACTGCTGGCA	0.617													32	113					0	0	0	0	C	45959660	G	C	45959660	3	2	270	1	0	0	0	0	1	0	0	0	8557	942	33	2	478	2	KRTAP10-1	21	45959660	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	442	45959660	2170235	613	48601			5	75		3	3	611	G		7.995752e-05
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959828	45959828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggagctggtgcagcctGattggcaggggctgggctca	6	8	18	9	0	1	1	1	1	0	0	1	2	1	2	1	6	4	6	1	6	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45959828G>A	ENST00000400375.1	-	1	250	c.206C>T	c.(205-207)tCa>tTa	p.S69L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	69	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGTGCAGCCTGATTGGCAGGG	0.716													20	75					0	0	0	0	A	45959828	G	A	45959828	3	1	270	1	0	0	0	0	1	0	0	0	8557	1294	45	2	646	2	KRTAP10-1	21	45959828	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	168	45959828	2170067	614	48602			5	75		3	3	611	G		7.995752e-05
KRTAP10-4	386672	broad.mit.edu	37	chr21	45994519	45994519	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctgctctggggcttcctCtctgtgctgccagcagtcta	4	13	10	14	0	4	0	0	0	4	0	6	0	5	0	2	2	4	4	2	2	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45994519C>G	ENST00000400374.3	+	1	914	c.884C>G	c.(883-885)tCt>tGt	p.S295C	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	295	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GGGGCTTCCTCTCTGTGCTGC	0.637													13	181					0	0	0	0	G	45994519	C	G	45994519	3	3	270	1	0	0	0	0	1	0	0	0	8563	913	32	2	886	2	KRTAP10-4	21	45994519	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	34691	45994519	2135376	615	48603											
PCNT	5116	broad.mit.edu	37	chr21	47773920	47773920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttgtcctgtgtgggtttaGaagagaaacctgagaaagga	12	10	15	4	0	0	3	0	1	0	3	1	6	1	4	2	3	1	2	2	3	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:47773920G>A	ENST00000359568.5	+	11	1806	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	567	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGTGGGTTTAGAAGAGAAACC	0.498													3	14					0	0	0	0	A	47773920	G	A	47773920	3	1	270	1	0	0	0	0	1	0	0	0	11661	943	33	2	1741	2	PCNT	21	47773920	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1779401	47773920	355975	616	48604											
XKR3	150165	broad.mit.edu	37	chr22	17288751	17288751	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccccacaataataaagctGatggtaaatgacatccagaa	17	7	7	10	0	0	3	0	2	0	1	1	3	1	3	3	1	1	2	3	1	7	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:17288751G>A	ENST00000331428.5	-	2	315	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	71						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TAATAAAGCTGATGGTAAATG	0.358													16	46					0	0	0	0	A	17288751	G	A	17288751	2	1	270	1	0	0	0	0	0	0	0	1	17528	1280	45	2		2	XKR3	22	17288751	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08		17288751	34015815	617	48605											
CECR2	27443	broad.mit.edu	37	chr22	17956654	17956654	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaagccgctcttcacagaGatgacgtggagtttatcagt	11	11	11	8	2	3	3	2	1	1	2	3	5	3	4	1	1	1	2	1	1	3	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:17956654G>C	ENST00000262608.8	+	1	28	c.28G>C	c.(28-30)Gat>Cat	p.D10H	CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000400573.4_Missense_Mutation_p.D29H|CECR2_ENST00000342247.5_Missense_Mutation_p.D9H	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	51					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCTTCACAGAGATGACGTGGA	0.463													22	57					0	0	0	0	C	17956654	G	C	17956654	3	2	270	1	0	0	0	0	1	0	0	0	3235	933	33	2	29	2	CECR2	22	17956654	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	667903	17956654	33347912	618	48606											
SLC25A18	83733	broad.mit.edu	37	chr22	18072904	18072904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctgccttcatgaaaggcGctggctgccgggcactggtc	6	9	13	13	2	2	1	1	1	1	0	3	1	2	1	2	4	2	3	2	4	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18072904G>A	ENST00000327451.5	+	11	1388	c.850G>A	c.(850-852)Gct>Act	p.A284T	SLC25A18_ENST00000399813.1_Missense_Mutation_p.A284T	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	284						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	CATGAAAGGCGCTGGCTGCCG	0.527													19	81					0	0	0	0	A	18072904	G	A	18072904	3	1	270	1	0	0	0	0	1	0	0	0	14568	1087	38	1	884	1	SLC25A18	22	18072904	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	116250	18072904	33231662	619	48607											
BID	637	broad.mit.edu	37	chr22	18220787	18220787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcaagggttcttacatttCtggctaagctcctcacgtag	8	13	8	12	1	4	0	2	0	2	0	5	0	5	0	2	2	2	4	2	2	4	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18220787C>T	ENST00000317361.7	-	5	1036	c.710G>A	c.(709-711)aGa>aAa	p.R237K	BID_ENST00000399767.1_Missense_Mutation_p.R95K|BID_ENST00000551952.1_Missense_Mutation_p.R191K|BID_ENST00000342111.5_3'UTR|BID_ENST00000399765.1_Missense_Mutation_p.R95K|BID_ENST00000399774.3_Missense_Mutation_p.R191K	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	191					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding	p.R237K(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		TCTTACATTTCTGGCTAAGCT	0.552													24	66					0	0	0	0	T	18220787	C	T	18220787	3	4	270	1	0	0	0	0	1	0	0	0	1435	913	32	2	23	2	BID	22	18220787	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	147883	18220787	33083779	620	48608											
TUBA8	51807	broad.mit.edu	37	chr22	18604368	18604368	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgatgctcaagctagcaaGatcaacgatgatgactcctt	12	12	8	9	1	2	4	2	3	0	1	3	5	3	4	1	0	4	3	1	0	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18604368G>C	ENST00000330423.3	+	2	199	c.126G>C	c.(124-126)aaG>aaC	p.K42N	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	42					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						AAGCTAGCAAGATCAACGATG	0.552													12	53					0	0	0	0	C	18604368	G	C	18604368	3	2	270	1	0	0	0	0	1	0	0	0	16846	933	33	2	132	2	TUBA8	22	18604368	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	383581	18604368	32700198	621	48609											
TUBA8	51807	broad.mit.edu	37	chr22	18604405	18604405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttcaccacctttttcagcGagactggcaatgggaagcat	10	10	9	12	1	2	1	2	0	0	1	2	3	2	2	3	2	2	2	3	2	2	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18604405G>A	ENST00000330423.3	+	2	236	c.163G>A	c.(163-165)Gag>Aag	p.E55K	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	55					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTTTTTCAGCGAGACTGGCAA	0.557													9	56					0	0	0	0	A	18604405	G	A	18604405	3	1	270	1	0	0	0	0	1	0	0	0	16846	1059	37	1	169	1	TUBA8	22	18604405	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	37	18604405	32700161	622	48610											
CLTCL1	8218	broad.mit.edu	37	chr22	19207486	19207486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcataccaggtagcgggcctCgcttttgaacagagaattct	10	10	11	10	2	1	2	0	1	1	1	2	3	1	2	2	2	3	3	2	2	4	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:19207486C>T	ENST00000263200.10	-	18	2899	c.2827G>A	c.(2827-2829)Gag>Aag	p.E943K	CLTCL1_ENST00000427926.1_Missense_Mutation_p.E943K|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E943K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	943	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TAGCGGGCCTCGCTTTTGAAC	0.552			T	?	ALCL								38	130					0	0	0	0	T	19207486	C	T	19207486	3	4	270	1	0	0	0	0	1	0	0	0	3597	893	31	1	2155	1	CLTCL1	22	19207486	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	603081	19207486	32097080	623	48611											
PI4KA	5297	broad.mit.edu	37	chr22	21107310	21107310	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcctcgttctccttggtCttggcctagagatgcaaaag	7	13	9	12	1	2	1	0	0	2	1	6	2	4	1	4	2	1	2	4	2	3	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:21107310C>T	ENST00000255882.6	-	25	2954	c.2868G>A	c.(2866-2868)aaG>aaA	p.K956K	PI4KA_ENST00000572273.1_Silent_p.K898K	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	898					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)			TCTCCTTGGTCTTGGCCTAGA	0.537													29	50					0	0	0	0	T	21107310	C	T	21107310	2	4	270	1	0	0	0	0	0	0	0	1	11945	912	32	2		2	PI4KA	22	21107310	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1899824	21107310	30197256	624	48612											
ZNF70	7621	broad.mit.edu	37	chr22	24086061	24086061	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggaaggacttgccgcacaGattgcacacgtagggcttct	9	8	12	12	3	1	1	0	0	1	1	1	3	1	3	2	3	2	4	2	3	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:24086061G>A	ENST00000341976.3	-	2	1727	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	423						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTGCCGCACAGATTGCACACG	0.547													59	119					0	0	0	0	A	24086061	G	A	24086061	2	1	270	1	0	0	0	0	0	0	0	1	18198	933	33	2		2	ZNF70	22	24086061	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2978751	24086061	27218505	625	48613											
ZNF70	7621	broad.mit.edu	37	chr22	24086776	24086776	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtggatgatctggtgcctGagcaggtgggagctctggct	5	11	18	7	0	2	2	0	2	2	0	2	4	2	4	1	5	3	3	1	5	0	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:24086776G>C	ENST00000341976.3	-	2	1012	c.552C>G	c.(550-552)ctC>ctG	p.L184L		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	184						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TCTGGTGCCTGAGCAGGTGGG	0.622													13	48					0	0	0	0	C	24086776	G	C	24086776	2	2	270	1	0	0	0	0	0	0	0	1	18198	1277	45	2		2	ZNF70	22	24086776	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	715	24086776	27217790	626	48614											
UPB1	51733	broad.mit.edu	37	chr22	24911253	24911253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgaacatttgctacgggCggcaccaccccctcaactgg	8	7	11	15	3	1	1	1	1	0	0	1	1	1	1	3	4	4	2	3	4	3	2	rs144135211		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:24911253C>T	ENST00000413389.2	+	6	2095	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	UPB1_ENST00000326010.5_Missense_Mutation_p.R236W			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	236	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TTGCTACGGGCGGCACCACCC	0.562													26	64					0	0	0	0	T	24911253	C	T	24911253	3	4	270	1	0	0	0	0	1	0	0	0	17098	759	27	1	728	1	UPB1	22	24911253	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	824477	24911253	26393313	627	48615											
ZNRF3	84133	broad.mit.edu	37	chr22	29445929	29445929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggagctgctccaccttccGcagctccctcagcagcgact	6	7	10	18	3	1	0	1	0	0	0	4	2	4	1	4	1	5	5	4	1	0	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:29445929G>A	ENST00000544604.2	+	8	1935	c.1760G>A	c.(1759-1761)cGc>cAc	p.R587H	ZNRF3_ENST00000406323.3_Missense_Mutation_p.R487H|ZNRF3_ENST00000332811.4_Missense_Mutation_p.R487H|ZNRF3_ENST00000402174.1_Missense_Mutation_p.R487H	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	587						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TCCACCTTCCGCAGCTCCCTC	0.667													32	109					0	0	0	0	A	29445929	G	A	29445929	3	1	270	1	0	0	0	0	1	0	0	0	18306	1087	38	1	1486	1	ZNRF3	22	29445929	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	4534676	29445929	21858637	628	48616											
SMTN	6525	broad.mit.edu	37	chr22	31484020	31484020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccgggaactgcagcggcagGagctggagcgcgaggaggag	9	3	20	9	4	0	0	0	0	0	0	1	6	1	5	1	6	5	3	1	6	1	0			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:31484020G>A	ENST00000333137.7	+	3	339	c.121G>A	c.(121-123)Gag>Aag	p.E41K	SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000347557.2_Missense_Mutation_p.E41K|SMTN_ENST00000358743.1_Missense_Mutation_p.E41K	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	41					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	p.E41K(2)|p.E33K(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCAGCGGCAGGAGCTGGAGCG	0.652													6	28					0	0	0	0	A	31484020	G	A	31484020	3	1	270	1	0	0	0	0	1	0	0	0	14902	1175	41	2	127	2	SMTN	22	31484020	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2038091	31484020	19820546	629	48617											
RFPL2	10739	broad.mit.edu	37	chr22	32587230	32587230	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaacggacacgtcaaatctCtcggcaaggtcttgccgatt	11	9	9	12	4	3	0	1	0	2	0	5	2	3	1	1	3	2	1	1	3	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:32587230C>T	ENST00000400236.3	-	5	1601	c.396G>A	c.(394-396)gaG>gaA	p.E132E	RFPL2_ENST00000248980.4_Silent_p.E161E|RFPL2_ENST00000400237.1_Silent_p.E222E|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Silent_p.E132E	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	222							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CGTCAAATCTCTCGGCAAGGT	0.582													8	95					0	0	0	0	T	32587230	C	T	32587230	2	4	270	1	0	0	0	0	0	0	0	1	13336	912	32	2		2	RFPL2	22	32587230	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1103210	32587230	18717336	630	48618											
MYH9	4627	broad.mit.edu	37	chr22	36691644	36691644	+	Missense_Mutation	SNP	T	T	A																															caaggtcccgtttctgcttcTcagctttattcctggaagca																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:36691644T>A	ENST00000216181.5	-	26	3622	c.3392A>T	c.(3391-3393)gAg>gTg	p.E1131V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1131					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTTCTGCTTCTCAGCTTTATT	0.547			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				7	37					0	0	0	0	A	36691644	T	A	36691644	3	1	270	1	0	0	0	0	1	0	0	0	10112	1551	54	5	2554	5	MYH9	22	36691644	Missense_Mutation	SNP	T	TCGA-CV-6961-01A-21D-1912-08	4104414	36691644	14612922	631	48619	377	2									
MYH9	4627	broad.mit.edu	37	chr22	36691645	36691645	+	Missense_Mutation	SNP	C	C	T																															aaggtcccgtttctgcttctCagctttattcctggaagcac																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:36691645C>T	ENST00000216181.5	-	26	3621	c.3391G>A	c.(3391-3393)Gag>Aag	p.E1131K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1131					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTCTGCTTCTCAGCTTTATTC	0.547			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				7	36					0	0	0	0	T	36691645	C	T	36691645	3	4	270	1	0	0	0	0	1	0	0	0	10112	835	29	2	2555	2	MYH9	22	36691645	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1	36691645	14612921	632	48620	377	2									
CBX7	23492	broad.mit.edu	37	chr22	39530549	39530549	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggggcgggaacttcttgcgcGagagccgcaggtacttgtgg	6	8	18	9	4	1	1	0	0	1	1	1	3	1	2	1	5	4	2	1	5	2	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:39530549G>C	ENST00000216133.5	-	5	660	c.455C>G	c.(454-456)tCg>tGg	p.S152W	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	152					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CTTCTTGCGCGAGAGCCGCAG	0.701													6	20					0	0	0	0	C	39530549	G	C	39530549	3	2	270	1	0	0	0	0	1	0	0	0	2748	1059	37	3	308	3	CBX7	22	39530549	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2838904	39530549	11774017	633	48621											
ADSL	158	broad.mit.edu	37	chr22	40745953	40745953	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacgacatgatgtgatggctCacgtgcacacatttggccac	10	10	10	11	2	1	2	1	2	0	0	1	3	1	2	1	2	2	2	1	2	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:40745953C>G	ENST00000216194.7	+	2	327	c.271C>G	c.(271-273)Cac>Gac	p.H91D	ADSL_ENST00000342312.6_Missense_Mutation_p.H91D|ADSL_ENST00000454266.2_Missense_Mutation_p.H91D	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	91					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TGTGATGGCTCACGTGCACAC	0.468													4	74					0	0	0	0	G	40745953	C	G	40745953	3	3	270	1	0	0	0	0	1	0	0	0	346	826	29	2	277	2	ADSL	22	40745953	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1215404	40745953	10558613	634	48622											
ZC3H7B	23264	broad.mit.edu	37	chr22	41738568	41738568	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaacactgccttgctcatCaagaaccccttggctgccac	9	8	6	18	0	2	1	2	0	0	1	2	1	2	1	5	1	5	2	5	1	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:41738568C>T	ENST00000352645.4	+	12	1490	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	ZC3H7B_ENST00000351589.4_Silent_p.I411I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	427					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTTGCTCATCAAGAACCCCT	0.602													4	47					0	0	0	0	T	41738568	C	T	41738568	2	4	270	1	0	0	0	0	0	0	0	1	17668	816	29	2		2	ZC3H7B	22	41738568	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	992615	41738568	9565998	635	48623											
PACSIN2	11252	broad.mit.edu	37	chr22	43272287	43272287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagaaggggttgttagactCatcgtctgaccagtcggtgg	8	10	16	7	2	2	3	1	1	1	2	4	4	2	3	1	5	0	2	1	5	2	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:43272287C>G	ENST00000263246.3	-	10	1405	c.1204G>C	c.(1204-1206)Gag>Cag	p.E402Q	PACSIN2_ENST00000402229.1_Missense_Mutation_p.E402Q|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000337959.4_Missense_Mutation_p.E361Q|PACSIN2_ENST00000407585.1_Missense_Mutation_p.E361Q|PACSIN2_ENST00000403744.3_Missense_Mutation_p.E402Q	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	402					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TTGTTAGACTCATCGTCTGAC	0.617													14	51					0	0	0	0	G	43272287	C	G	43272287	3	3	270	1	0	0	0	0	1	0	0	0	11446	835	29	2	264	2	PACSIN2	22	43272287	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1533719	43272287	8032279	636	48624											
KIAA1644	85352	broad.mit.edu	37	chr22	44681333	44681333	+	Missense_Mutation	SNP	T	T	A																															agacgaactctggaaggtcaTcagcggtgggctgtgagcat																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:44681333T>A	ENST00000381176.4	-	4	706	c.574A>T	c.(574-576)Atg>Ttg	p.M192L		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	192						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGGAAGGTCATCAGCGGTGGG	0.607													19	71					0	0	0	0	A	44681333	T	A	44681333	3	1	270	1	0	0	0	0	1	0	0	0	8301	1435	50	5	33	5	KIAA1644	22	44681333	Missense_Mutation	SNP	T	TCGA-CV-6961-01A-21D-1912-08	1409046	44681333	6623233	637	48625	378	2									
KIAA1644	85352	broad.mit.edu	37	chr22	44681334	44681334	+	Silent	SNP	C	C	T																															gacgaactctggaaggtcatCagcggtgggctgtgagcatc																										TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:44681334C>T	ENST00000381176.4	-	4	705	c.573G>A	c.(571-573)ctG>ctA	p.L191L		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	191						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GGAAGGTCATCAGCGGTGGGC	0.607													19	72					0	0	0	0	T	44681334	C	T	44681334	2	4	270	1	0	0	0	0	0	0	0	1	8301	813	29	2		2	KIAA1644	22	44681334	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1	44681334	6623232	638	48626	378	2									
KIAA1644	85352	broad.mit.edu	37	chr22	44681481	44681481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccgccgggggtcctgtttCatccatcgtccttggatgcc	4	11	11	15	3	1	0	1	0	0	0	5	1	4	1	6	3	1	1	6	3	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:44681481C>T	ENST00000381176.4	-	4	558	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	142						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GGTCCTGTTTCATCCATCGTC	0.652													36	95					0	0	0	0	T	44681481	C	T	44681481	3	4	270	1	0	0	0	0	1	0	0	0	8301	826	29	2	181	2	KIAA1644	22	44681481	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	147	44681481	6623085	639	48627											
GTSE1	51512	broad.mit.edu	37	chr22	46704811	46704811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagcggcctctgttagaGgaagaagcatccctggggct	8	8	14	11	2	1	2	0	0	1	2	3	4	2	3	2	4	2	3	2	4	3	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:46704811G>A	ENST00000454366.1	+	4	945	c.733G>A	c.(733-735)Gga>Aga	p.G245R		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	226					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCTGTTAGAGGAAGAAGCAT	0.612													20	71					0	0	0	0	A	46704811	G	A	46704811	3	1	270	1	0	0	0	0	1	0	0	0	6935	1001	35	4	743	4	GTSE1	22	46704811	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	2023330	46704811	4599755	640	48628											
SELO	83642	broad.mit.edu	37	chr22	50654234	50654234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggaattcctggccaggctGatggagcagtgtgcctccct	6	9	14	12	1	0	1	0	1	0	0	2	3	2	3	4	4	2	2	4	4	1	1			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:50654234G>A	ENST00000380903.2	+	6	1498	c.1440G>A	c.(1438-1440)ctG>ctA	p.L480L	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					TGGCCAGGCTGATGGAGCAGT	0.587													31	63					0	0	0	0	A	50654234	G	A	50654234	2	1	270	1	0	0	0	0	0	0	0	1	14105	1277	45	2		2	SELO	22	50654234	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3949423	50654234	650332	641	48629											
BMX	660	broad.mit.edu	37	chrX	15560113	15560113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttatttccaggaaactcaGccatcccaagctggttaaat	12	12	7	10	0	1	0	1	0	0	0	3	1	3	1	3	2	3	3	3	2	5	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:15560113G>T	ENST00000357607.2	+	15	1591	c.1403G>T	c.(1402-1404)aGc>aTc	p.S468I	BMX_ENST00000348343.6_Missense_Mutation_p.S468I|BMX_ENST00000342014.6_Missense_Mutation_p.S468I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	468	Protein kinase.				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)					AGGAAACTCAGCCATCCCAAG	0.373													35	46					2.48696e-23	2.74494e-23	1	0	T	15560113	G	T	15560113	3	4	270	1	0	0	0	0	1	0	0	0	1478	971	34	4	1457	4	BMX	23	15560113	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08		15560113	139710447	642	48630											
DMD	1756	broad.mit.edu	37	chrX	32398771	32398771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggacaatttcaagcatttCtccaactgttgctttctttc	8	16	6	11	1	3	0	1	0	2	0	5	1	3	1	1	1	3	3	1	1	3	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:32398771C>A	ENST00000357033.4	-	34	4907	c.4701G>T	c.(4699-4701)gaG>gaT	p.E1567D	DMD_ENST00000378677.2_Missense_Mutation_p.E1563D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1567	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAGCATTTCTCCAACTGTT	0.338													23	17					1.28384e-07	1.35516e-07	1	0	A	32398771	C	A	32398771	3	1	270	1	0	0	0	0	1	0	0	0	4617	912	32	2	6688	2	DMD	23	32398771	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	16838658	32398771	122871789	643	48631											
USP9X	8239	broad.mit.edu	37	chrX	41000592	41000592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagatgaatgcactgaatGaagttaataaggtgatatct	17	11	10	3	0	1	5	0	4	1	1	1	6	1	5	0	1	1	2	0	1	7	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:41000592G>A	ENST00000324545.7	+	9	1702	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	USP9X_ENST00000378308.2_Missense_Mutation_p.E357K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	357					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGCACTGAATGAAGTTAATAA	0.348													10	5					0	0	0	0	A	41000592	G	A	41000592	3	1	270	1	0	0	0	0	1	0	0	0	17186	1291	45	2	1099	2	USP9X	23	41000592	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	8601821	41000592	114269968	644	48632											
SLC9A7	84679	broad.mit.edu	37	chrX	46472745	46472745	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgtacacctggggactggtCagacatcgagctagtaagcc	10	8	12	11	2	1	1	1	0	0	1	3	3	1	2	2	3	3	3	2	3	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:46472745C>G	ENST00000328306.4	-	16	1930	c.1905G>C	c.(1903-1905)ctG>ctC	p.L635L	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	635					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GGGGACTGGTCAGACATCGAG	0.512													19	27					0	0	0	0	G	46472745	C	G	46472745	2	3	270	1	0	0	0	0	0	0	0	1	14807	813	29	2		2	SLC9A7	23	46472745	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	5472153	46472745	108797815	645	48633											
CFP	5199	broad.mit.edu	37	chrX	47485839	47485839	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgcgtgactgctggcccggGatttcttgacagctgatgga	6	10	14	11	3	1	3	0	3	1	0	1	5	1	5	2	3	2	2	2	3	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:47485839G>A	ENST00000247153.3	-	8	1261	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	CFP_ENST00000396992.3_Silent_p.I340I|CFP_ENST00000377005.2_Silent_p.I340I	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	340	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GCTGGCCCGGGATTTCTTGAC	0.617													15	10					0	0	0	0	A	47485839	G	A	47485839	2	1	270	1	0	0	0	0	0	0	0	1	3322	1164	41	2		2	CFP	23	47485839	Silent	SNP	G	TCGA-CV-6961-01A-21D-1912-08	1013094	47485839	107784721	646	48634											
CACNA1F	778	broad.mit.edu	37	chrX	49076130	49076130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagaagaaggcgctgccctCagggatgggtaccaccttct	9	7	13	12	1	2	2	1	0	1	2	2	3	2	3	3	3	2	3	3	3	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:49076130C>T	ENST00000376265.2	-	20	2600	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	CACNA1F_ENST00000323022.5_Missense_Mutation_p.E836K|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E782K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	847					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCGCTGCCCTCAGGGATGGGT	0.607													3	3					0	0	0	0	T	49076130	C	T	49076130	3	4	270	1	0	0	0	0	1	0	0	0	2568	835	29	2	3510	2	CACNA1F	23	49076130	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1590291	49076130	106194430	647	48635											
AKAP4	8852	broad.mit.edu	37	chrX	49958507	49958507	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctctccagtgccacgcAtttctgcagctgtcagttcc	6	12	7	16	1	3	0	1	0	2	0	6	0	5	0	4	0	3	4	4	0	0	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:49958507A>G	ENST00000376056.2	-	5	980	c.830T>C	c.(829-831)aTg>aCg	p.M277T	AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.M286T|AKAP4_ENST00000376064.3_Missense_Mutation_p.M277T			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	286					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					AGTGCCACGCATTTCTGCAGC	0.498													15	21					0	0	0	0	G	49958507	A	G	49958507	3	3	270	1	0	0	0	0	1	0	0	0	453	217	8	5	1715	5	AKAP4	23	49958507	Missense_Mutation	SNP	A	TCGA-CV-6961-01A-21D-1912-08	882377	49958507	105312053	648	48636											
HUWE1	10075	broad.mit.edu	37	chrX	53602642	53602642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcgtatcaaagtcactgctCtgacgcgtaagtgaccggta	10	10	11	10	4	3	2	2	2	1	0	3	2	3	2	1	1	2	4	1	1	4	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:53602642C>G	ENST00000342160.3	-	44	6448	c.5991G>C	c.(5989-5991)caG>caC	p.Q1997H	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q1997H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1997					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGTCACTGCTCTGACGCGTAA	0.448													6	7					0	0	0	0	G	53602642	C	G	53602642	3	3	270	1	0	0	0	0	1	0	0	0	7514	912	32	2	7293	2	HUWE1	23	53602642	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	3644135	53602642	101667918	649	48637											
ZMYM3	9203	broad.mit.edu	37	chrX	70470284	70470284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaagaccctcacgcacttCttgcagaaggtacaggtctt	10	9	8	14	1	3	2	1	0	2	2	3	2	3	2	2	2	2	3	2	2	3	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:70470284C>T	ENST00000373998.1	-	5	1768	c.1071G>A	c.(1069-1071)aaG>aaA	p.K357K	ZMYM3_ENST00000373981.1_Silent_p.K357K|ZMYM3_ENST00000353904.2_Silent_p.K357K|ZMYM3_ENST00000314425.5_Silent_p.K357K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373984.3_Silent_p.K359K|ZMYM3_ENST00000373988.1_Silent_p.K359K|ZMYM3_ENST00000373982.1_Silent_p.K359K	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	357					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.K357K(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCACGCACTTCTTGCAGAAGG	0.557													4	2					0	0	0	0	T	70470284	C	T	70470284	2	4	270	1	0	0	0	0	0	0	0	1	17796	912	32	2		2	ZMYM3	23	70470284	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	16867642	70470284	84800276	650	48638											
PIN4	5303	broad.mit.edu	37	chrX	71401627	71401627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttcagcgttcaacaacaaGcttccaagatgccgcccaaa	13	7	8	13	2	2	1	2	0	0	1	3	1	3	1	3	1	5	3	3	1	5	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:71401627G>A	ENST00000218432.5	+	1	102	c.67G>A	c.(67-69)Gct>Act	p.A23T	PIN4_ENST00000423432.2_Missense_Mutation_p.A23T|PIN4_ENST00000373669.2_Missense_Mutation_p.A23T			Q9Y237	PIN4_HUMAN	protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)	0	Necessary for association with the pre- rRNP complexes.|Necessary for nuclear localization and DNA-binding.				protein folding|rRNA processing	cytoplasm|mitochondrial matrix|nucleolus|preribosome|spindle	bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity			large_intestine(1)|lung(2)	3	Renal(35;0.156)					TCAACAACAAGCTTCCAAGAT	0.547													5	11					0	0	0	0	A	71401627	G	A	71401627	3	1	270	1	0	0	0	0	1	0	0	0	12003	971	34	4	69	4	PIN4	23	71401627	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	931343	71401627	83868933	651	48639											
UPRT	139596	broad.mit.edu	37	chrX	74519710	74519710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttaccggagaaaagtcCttctgatgtatccaattctc	12	13	6	10	1	2	2	0	1	2	1	5	3	4	2	3	1	1	1	3	1	5	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:74519710C>A	ENST00000373379.1	+	5	868	c.703C>A	c.(703-705)Ctt>Att	p.L235I	UPRT_ENST00000530743.1_Missense_Mutation_p.L99I|UPRT_ENST00000373383.4_Missense_Mutation_p.L235I			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	235					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GAGAAAAGTCCTTCTGATGTA	0.413													37	23					5.04308e-16	5.51285e-16	1	0	A	74519710	C	A	74519710	3	1	270	1	0	0	0	0	1	0	0	0	17110	681	24	4	721	4	UPRT	23	74519710	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	3118083	74519710	80750850	652	48640											
TAF7L	54457	broad.mit.edu	37	chrX	100532640	100532640	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctcattcccgaggatatCaaaaatcctgggatggagcc	11	9	10	11	1	2	0	2	0	0	0	4	4	4	3	3	3	2	1	3	3	3	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:100532640C>G	ENST00000372907.3	-	9	914	c.903G>C	c.(901-903)ttG>ttC	p.L301F	TAF7L_ENST00000356784.1_Missense_Mutation_p.L215F|TAF7L_ENST00000372905.2_Missense_Mutation_p.L215F|TAF7L_ENST00000324762.6_Missense_Mutation_p.L215F	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	301					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CCGAGGATATCAAAAATCCTG	0.468													20	97					0	0	0	0	G	100532640	C	G	100532640	3	3	270	1	0	0	0	0	1	0	0	0	15624	825	29	2	505	2	TAF7L	23	100532640	Missense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	26012930	100532640	54737920	653	48641											
SLC6A14	11254	broad.mit.edu	37	chrX	115585606	115585606	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtctcgtctgtgtgactCaggtatactacagcattttt	7	17	9	8	1	3	1	1	1	2	0	4	1	3	1	0	2	3	2	0	2	3	6			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:115585606C>T	ENST00000371900.4	+	10	1490	c.1402C>T	c.(1402-1404)Cag>Tag	p.Q468*		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	468					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CTGTGTGACTCAGGTATACTA	0.358													17	21					0	0	0	0	T	115585606	C	T	115585606	4	4	270	1	0	0	0	0	0	1	0	0	14765	827	29	2	1440	2	SLC6A14	23	115585606	Nonsense_Mutation	SNP	C	TCGA-CV-6961-01A-21D-1912-08	15052966	115585606	39684954	654	48642											
MCTS1	28985	broad.mit.edu	37	chrX	119738100	119738100	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaccttggatcatgttcaaGaagtaaggacatgctgtggc	11	11	11	8	0	3	1	3	0	0	1	3	3	3	3	1	3	1	3	1	3	3	3			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:119738100G>C	ENST00000371317.5	+	1	266	c.9G>C	c.(7-9)aaG>aaC	p.K3N		NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	3					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TCATGTTCAAGAAGTAAGGAC	0.582													8	24					0	0	0	0	C	119738100	G	C	119738100	3	2	270	1	0	0	0	0	1	0	0	0	9471	933	33	2	11	2	MCTS1	23	119738100	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	4152494	119738100	35532460	655	48643											
THOC2	57187	broad.mit.edu	37	chrX	122866817	122866817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacaattcgcctctccctGatttctcccagttctttatc	6	16	3	16	1	4	1	1	1	3	0	8	1	4	1	3	0	0	1	3	0	2	5			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:122866817G>A	ENST00000245838.8	-	1	87	c.56C>T	c.(55-57)tCa>tTa	p.S19L	THOC2_ENST00000355725.4_Missense_Mutation_p.S19L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	19					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GCCTCTCCCTGATTTCTCCCA	0.632											OREG0003978|OREG0003979	type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	37					0	0	0	0	A	122866817	G	A	122866817	3	1	270	1	0	0	0	0	1	0	0	0	15959	1294	45	2	4877	2	THOC2	23	122866817	Missense_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	3128717	122866817	32403743	656	48644											
MAGEA6	4105	broad.mit.edu	37	chrX	151870254	151870254	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgagagagggggaagagtGagtctgagcacgagttgcag	11	8	18	4	1	1	5	0	3	1	2	1	8	1	6	0	2	2	3	0	2	1	2			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:151870254G>C	ENST00000329342.5	+	3	1169	c.944G>C	c.(943-945)tGa>tCa	p.*315S		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	0							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAGAGTGAGTCTGAGCA	0.577													29	60					0	0	0	0	C	151870254	G	C	151870254	4	2	270	1	0	0	0	0	0	0	0	0	9237	1285	45	2	946	2	MAGEA6	23	151870254	Nonstop_Mutation	SNP	G	TCGA-CV-6961-01A-21D-1912-08	29003437	151870254	3400306	657	48645											
G6PD	2539	broad.mit.edu	37	chrX	153760233	153760233	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagagcttgtgggggttCacccacttgtaggtgccctc	5	11	13	12	0	2	1	2	0	0	1	3	1	2	1	2	3	2	4	2	3	1	4			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:153760233C>A	ENST00000393562.2	-	13	2003	c.1620G>T	c.(1618-1620)gtG>gtT	p.V540V	G6PD_ENST00000393564.2_Silent_p.V510V|G6PD_ENST00000369620.2_Silent_p.V556V	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	510					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTGGGGGTTCACCCACTTGT	0.677													7	9					8.12818e-05	8.40193e-05	1	0	A	153760233	C	A	153760233	2	1	270	1	0	0	0	0	0	0	0	1	6194	813	29	2		2	G6PD	23	153760233	Silent	SNP	C	TCGA-CV-6961-01A-21D-1912-08	1889979	153760233	1510327	658	48646											
VPS13D	55187	broad.mit.edu	37	chr1	12304644	12304644	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtattcagttaccgcctcCgtagttacaaggattgtgga	9	13	11	8	2	1	0	1	0	0	0	2	2	2	2	3	3	2	4	3	3	5	6	rs34489138	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:12304644C>A	ENST00000358136.3	+	5	547	c.417C>A	c.(415-417)tcC>tcA	p.S139S	VPS13D_ENST00000356315.4_Silent_p.S139S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	139					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTACCGCCTCCGTAGTTACAA	0.413													35	19					2.32173e-10	2.6322e-10	1	0	A	12304644	C	A	12304644	2	1	271	1	0	0	0	0	0	0	0	1	17288	639	23	3		3	VPS13D	1	12304644	Silent	SNP	C	TCGA-CV-6962-01A-11D-1912-08		12304644	236945977	1	48647											
PLEKHM2	23207	broad.mit.edu	37	chr1	16058487	16058487	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagctaagtgccgagAgcgaggccgagatggccgag	9	4	18	10	4	0	2	0	0	0	2	0	7	0	3	4	3	3	1	4	3	1	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:16058487A>G	ENST00000375799.3	+	17	2796	c.2569A>G	c.(2569-2571)Agc>Ggc	p.S857G	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.S837G|PLEKHM2_ENST00000477849.1_3'UTR	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	857	Interaction with sifA.|PH.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AAGTGCCGAGAGCGAGGCCGA	0.667													10	8					0	0	0	0	G	16058487	A	G	16058487	3	3	271	1	0	0	0	0	1	0	0	0	12153	304	11	5	2635	5	PLEKHM2	1	16058487	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	3753843	16058487	233192134	2	48648											
PADI4	23569	broad.mit.edu	37	chr1	17668883	17668883	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacacccagcccccgcaggaGgtgtacgcgtgcaggtgaga	10	4	14	13	3	0	1	0	1	0	1	0	3	0	2	3	3	4	3	3	3	2	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:17668883G>A	ENST00000375448.4	+	8	947	c.921G>A	c.(919-921)gaG>gaA	p.E307E	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	307					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCCCGCAGGAGGTGTACGCGT	0.632													15	7					0	0	0	0	A	17668883	G	A	17668883	2	1	271	1	0	0	0	0	0	0	0	1	11451	991	35	4		4	PADI4	1	17668883	Silent	SNP	G	TCGA-CV-6962-01A-11D-1912-08	1610396	17668883	231581738	3	48649											
JAK1	3716	broad.mit.edu	37	chr1	65301898	65301898	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attaaacattctggagcataCcttgaaaggaagcagaacac	17	8	8	8	0	1	2	0	1	1	1	1	4	1	4	1	2	5	2	1	2	6	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:65301898C>T	ENST00000342505.4	-	23	3389	c.3140_splice	c.e23-1	p.W1047_splice		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1047	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CTGGAGCATACCTTGAAAGGA	0.403			Mis		ALL								15	6					0	0	0	0	T	65301898	C	T	65301898	5	4	271	1	0	0	0	0	0	0	1	0	7990	521	18	4	335	4	JAK1	1	65301898	Splice_Site	SNP	C	TCGA-CV-6962-01A-11D-1912-08	47633015	65301898	183948723	4	48650											
FAM102B	284611	broad.mit.edu	37	chr1	109170788	109170788	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgttatgacatattacaGatctttcagcaaagagtgcc	13	13	7	8	0	3	3	2	1	1	2	3	3	3	3	1	0	3	2	1	0	4	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:109170788G>C	ENST00000370035.3	+	7	896		c.e7-1		FAM102B_ENST00000405454.1_Splice_Site	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B											autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		ACATATTACAGATCTTTCAGC	0.378													25	10					0	0	0	0	C	109170788	G	C	109170788	5	2	271	1	0	0	0	0	0	0	1	0	5424	956	33	2	582	2	FAM102B	1	109170788	Splice_Site	SNP	G	TCGA-CV-6962-01A-11D-1912-08	43868890	109170788	140079833	5	48651											
PROK1	84432	broad.mit.edu	37	chr1	110996644	110996644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccatcagcctgtggcttcGagggctgcggatgtgcaccc	5	9	14	13	2	1	0	1	0	0	0	2	2	1	1	3	3	4	3	3	3	0	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:110996644G>A	ENST00000271331.3	+	2	151	c.134G>A	c.(133-135)cGa>cAa	p.R45Q		NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	45					angiogenesis|positive regulation of cell division	extracellular region	growth factor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGTGGCTTCGAGGGCTGCGG	0.622													24	14					0	0	0	0	A	110996644	G	A	110996644	3	1	271	1	0	0	0	0	1	0	0	0	12630	1058	37	1	140	1	PROK1	1	110996644	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	1825856	110996644	138253977	6	48652											
ZNF687	57592	broad.mit.edu	37	chr1	151259689	151259689	+	Missense_Mutation	SNP	G	G	T																															gtccccagagtccctctagtGgggccgaggctgcagatgag																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:151259689G>T	ENST00000368879.2	+	2	1020	c.922G>T	c.(922-924)Ggg>Tgg	p.G308W		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCCTCTAGTGGGGCCGAGGC	0.572													29	42					4.87955e-14	5.59714e-14	1	0	T	151259689	G	T	151259689	3	4	271	1	0	0	0	0	1	0	0	0	18187	1348	47	4	924	4	ZNF687	1	151259689	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	40263045	151259689	97990932	7	48653	379	2									
ZNF687	57592	broad.mit.edu	37	chr1	151259690	151259690	+	Missense_Mutation	SNP	G	G	T																															tccccagagtccctctagtgGggccgaggctgcagatgagg																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:151259690G>T	ENST00000368879.2	+	2	1021	c.923G>T	c.(922-924)gGg>gTg	p.G308V		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCTCTAGTGGGGCCGAGGCT	0.567													31	43					7.26314e-15	8.43043e-15	1	0	T	151259690	G	T	151259690	3	4	271	1	0	0	0	0	1	0	0	0	18187	1232	43	4	925	4	ZNF687	1	151259690	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	1	151259690	97990931	8	48654	379	2									
THEM5	284486	broad.mit.edu	37	chr1	151820766	151820766	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagggacccgccgtgagcaAacctgggggtggggtaaggt	8	5	18	10	2	0	1	0	1	0	0	0	2	0	2	4	6	2	2	4	6	2	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:151820766A>C	ENST00000368817.5	-	4	598	c.467T>G	c.(466-468)tTt>tGt	p.F156C	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	156							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCGTGAGCAAACCTGGGGGT	0.602													13	26					0	0	0	0	C	151820766	A	C	151820766	3	2	271	1	0	0	0	0	1	0	0	0	15953	14	1	5	288	5	THEM5	1	151820766	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	561076	151820766	97429855	9	48655											
HSPA6	3310	broad.mit.edu	37	chr1	161495385	161495385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtgctcagacctcttcCgcagcaccctggagccggtg	7	8	11	15	2	2	1	1	0	1	1	3	2	3	2	4	2	4	3	4	2	1	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:161495385C>T	ENST00000309758.4	+	1	1350	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	313					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGACCTCTTCCGCAGCACCCT	0.632													5	30					0	0	0	0	T	161495385	C	T	161495385	3	4	271	1	0	0	0	0	1	0	0	0	7467	652	23	1	939	1	HSPA6	1	161495385	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	9674619	161495385	87755236	10	48656											
ADCY10	55811	broad.mit.edu	37	chr1	167865864	167865864	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagaaggataataatgcatGaaggtcgtacactttgtgaa	15	10	10	6	1	0	3	0	2	0	1	1	4	0	4	1	2	2	2	1	2	6	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:167865864G>A	ENST00000367848.1	-	7	929	c.432C>T	c.(430-432)ttC>ttT	p.F144F	ADCY10_ENST00000367851.4_Silent_p.F236F|ADCY10_ENST00000545172.1_Silent_p.F83F			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	236	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|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						AATAATGCATGAAGGTCGTAC	0.368													57	281					0	0	0	0	A	167865864	G	A	167865864	2	1	271	1	0	0	0	0	0	0	0	1	293	1281	45	2		2	ADCY10	1	167865864	Silent	SNP	G	TCGA-CV-6962-01A-11D-1912-08	6370479	167865864	81384757	11	48657											
PRRX1	5396	broad.mit.edu	37	chr1	170695536	170695536	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggggacagcgtctcCgtacaggtgaatgactggcc	7	8	14	12	2	1	2	0	2	1	0	3	3	2	3	3	4	2	1	3	4	2	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:170695536C>G	ENST00000239461.6	+	3	906	c.593C>G	c.(592-594)cCg>cGg	p.P198R	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.P198R|PRRX1_ENST00000367760.3_Missense_Mutation_p.P198R	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAGCGTCTCCGTACAGGTGA	0.562													25	37					0	0	0	0	G	170695536	C	G	170695536	3	3	271	1	0	0	0	0	1	0	0	0	12691	652	23	3	603	3	PRRX1	1	170695536	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	2829672	170695536	78555085	12	48658											
KIF21B	23046	broad.mit.edu	37	chr1	200967679	200967679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgatctcacaagtcaggtcgGccaggtccgcctggaagttc	8	8	12	13	3	2	0	2	0	1	0	6	2	3	1	3	4	0	1	3	4	2	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:200967679G>A	ENST00000332129.2	-	14	2226	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	KIF21B_ENST00000461742.2_Missense_Mutation_p.A637V|KIF21B_ENST00000422435.2_Missense_Mutation_p.A637V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A637V	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	637					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGTCAGGTCGGCCAGGTCCGC	0.587													31	44					0	0	0	0	A	200967679	G	A	200967679	3	1	271	1	0	0	0	0	1	0	0	0	8340	1203	42	4	3048	4	KIF21B	1	200967679	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	30272143	200967679	48282942	13	48659											
PLXNA2	5362	broad.mit.edu	37	chr1	208216455	208216455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgatgcccgggaacaggactCgcatagcgtaggtacgatag	11	6	14	10	5	0	0	0	0	0	0	1	4	0	2	1	3	4	3	1	3	5	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:208216455C>T	ENST00000367033.3	-	21	4725	c.3968G>A	c.(3967-3969)cGa>cAa	p.R1323Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1323					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAACAGGACTCGCATAGCGTA	0.607													29	32					0	0	0	0	T	208216455	C	T	208216455	3	4	271	1	0	0	0	0	1	0	0	0	12192	884	31	1	1764	1	PLXNA2	1	208216455	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	7248776	208216455	41034166	14	48660											
SPATA17	128153	broad.mit.edu	37	chr1	217955658	217955658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctgcaaaatgtaaatgAcaatatgtgagttcttagct	14	13	9	5	0	1	2	0	2	1	0	1	2	1	2	0	1	2	5	0	1	7	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:217955658A>G	ENST00000366933.4	+	8	921	c.866A>G	c.(865-867)gAc>gGc	p.D289G	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	289						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AATGTAAATGACAATATGTGA	0.363													15	27					0	0	0	0	G	217955658	A	G	217955658	3	3	271	1	0	0	0	0	1	0	0	0	15092	275	10	5	896	5	SPATA17	1	217955658	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	9739203	217955658	31294963	15	48661											
ACBD3	64746	broad.mit.edu	37	chr1	226340302	226340302	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtccacatggatggagctGctattactggaagagattct	10	12	12	7	0	1	1	0	0	1	1	2	5	2	4	1	3	3	2	1	3	3	3			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:226340302G>C	ENST00000366812.5	-	7	1163	c.1109C>G	c.(1108-1110)gCa>gGa	p.A370G	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	370					steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GGATGGAGCTGCTATTACTGG	0.448													76	139					0	0	0	0	C	226340302	G	C	226340302	3	2	271	1	0	0	0	0	1	0	0	0	123	1319	46	4	485	4	ACBD3	1	226340302	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	8384644	226340302	22910319	16	48662											
NUP133	55746	broad.mit.edu	37	chr1	229625736	229625736	+	Frame_Shift_Del	DEL	G	G	-																															tatattgagtgacttctacaGtaactgcatctgacatttgg																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:229625736delG	ENST00000261396.3	-	9	1251	c.1160delC	c.(1159-1161)atfs	p.T387fs	NUP133_ENST00000366679.1_Frame_Shift_Del_p.T387fs|NUP133_ENST00000537506.1_Frame_Shift_Del_p.T371fs	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	387					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GACTTCTACAGTAACTGCATC	0.348													15	24	---	---	---	---					-	229625736	G	-	229625736	7	5	271	1	0	1	0	1	0	0	0	0	10825	1029	36	0	2382	0	NUP133	1	229625736	Frame_Shift_Del	DEL	G	TCGA-CV-6962-01A-11D-1912-08	3285434	229625736	19624885	17	48663											
OR2L2	26246	broad.mit.edu	37	chr1	248202502	248202502	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaaaatcttctcagtgaaAatgtagacatacgttctgtg	14	12	8	7	1	3	3	1	1	3	2	4	3	3	3	0	0	1	2	0	0	6	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:248202502A>C	ENST00000366479.2	+	1	1029	c.933A>C	c.(931-933)aaA>aaC	p.K311N	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTCAGTGAAAATGTAGACAT	0.443													7	69					0	0	0	0	C	248202502	A	C	248202502	3	2	271	1	0	0	0	0	1	0	0	0	11078	11	1	5	935	5	OR2L2	1	248202502	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	18576766	248202502	1048119	18	48664											
LTBP1	4052	broad.mit.edu	37	chr2	33482371	33482371	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcttttaaggaaatctgtCctggtggaatgggttatacg	9	14	12	6	1	1	0	0	0	1	0	2	2	2	2	1	4	2	2	1	4	5	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:33482371C>A	ENST00000404816.2	+	12	2541	c.2188C>A	c.(2188-2190)Cct>Act	p.P730T	LTBP1_ENST00000418533.2_Missense_Mutation_p.P404T|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000390003.4_Missense_Mutation_p.P404T|LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000407925.1_Missense_Mutation_p.P404T|LTBP1_ENST00000354476.3_Missense_Mutation_p.P730T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	730					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGAAATCTGTCCTGGTGGAAT	0.393													29	39					5.97227e-30	7.66179e-30	1	0	A	33482371	C	A	33482371	3	1	271	1	0	0	0	0	1	0	0	0	9137	855	30	2	2289	2	LTBP1	2	33482371	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08		33482371	209717002	19	48665											
ZFP36L2	678	broad.mit.edu	37	chr2	43452544	43452545	+	Frame_Shift_Ins	INS	-	-	T																															gctgctgcaggtgcaggaggINStgctggctgcgatcgccgtt																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:43452544_43452545insT	ENST00000282388.3	-	2	691_692	c.398_399insA	c.(397-399)cctfs	p.P133fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	133					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGTGCAGGAGGTGCTGGCTGCG	0.658													20	27	---	---	---	---					T	43452545	-	T	43452544	7	5	271	1	0	1	1	0	0	0	0	0	17742	1252	44	0	1089	0	ZFP36L2	2	43452544	Frame_Shift_Ins	INS	-	TCGA-CV-6962-01A-11D-1912-08	9970173	43452544	199746829	20	48666											
THADA	63892	broad.mit.edu	37	chr2	43819112	43819112	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttaatataatggatttgTgacactccatccgtgagttg	10	16	9	6	1	0	2	0	2	0	0	2	3	2	3	2	1	0	2	2	1	3	6			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:43819112T>C	ENST00000403856.1	-	4	297	c.150A>G	c.(148-150)tcA>tcG	p.S50S	THADA_ENST00000415080.2_5'UTR|THADA_ENST00000405975.2_Silent_p.S50S|THADA_ENST00000405006.4_Silent_p.S50S|THADA_ENST00000404790.1_Silent_p.S50S|THADA_ENST00000402360.2_Silent_p.S50S			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	50							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AATGGATTTGTGACACTCCAT	0.313													5	2					0	0	0	0	C	43819112	T	C	43819112	2	2	271	1	0	0	0	0	0	0	0	1	15934	1683	59	5		5	THADA	2	43819112	Silent	SNP	T	TCGA-CV-6962-01A-11D-1912-08	366568	43819112	199380261	21	48667											
AFF3	3899	broad.mit.edu	37	chr2	100368683	100368683	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggatgcaagatctcacCttatttggaaatggaaattt	13	13	10	5	0	1	2	1	1	1	1	2	5	1	5	1	3	1	1	1	3	4	3			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:100368683C>A	ENST00000317233.4	-	8	1237	c.1002_splice	c.e8+1	p.K334_splice	AFF3_ENST00000409236.1_Splice_Site_p.K334_splice|AFF3_ENST00000356421.2_Splice_Site_p.K359_splice|AFF3_ENST00000409579.1_Splice_Site_p.K359_splice	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	334					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AAGATCTCACCTTATTTGGAA	0.443													20	44					8.10497e-08	8.92921e-08	1	0	A	100368683	C	A	100368683	5	1	271	1	0	0	0	0	0	0	1	0	358	695	24	4	2746	4	AFF3	2	100368683	Splice_Site	SNP	C	TCGA-CV-6962-01A-11D-1912-08	56549571	100368683	142830690	22	48668											
LRP1B	53353	broad.mit.edu	37	chr2	141359067	141359067	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatggtcatcttctgacAtggtgatgacagcttccctg	7	13	12	9	0	3	3	1	3	2	0	4	4	4	4	1	3	1	1	1	3	0	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:141359067A>T	ENST00000389484.3	-	42	7912	c.6941T>A	c.(6940-6942)aTg>aAg	p.M2314K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2314					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCTTCTGACATGGTGATGAC	0.428										TSP Lung(27;0.18)			13	36					0	0	0	0	T	141359067	A	T	141359067	3	4	271	1	0	0	0	0	1	0	0	0	9019	217	8	5	7058	5	LRP1B	2	141359067	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	40990384	141359067	101840306	23	48669											
PKP4	8502	broad.mit.edu	37	chr2	159519912	159519912	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaacccagccaccttggaAggctctgcagggtctctcca	8	8	9	16	0	2	0	0	0	2	0	5	1	4	1	5	3	3	2	5	3	2	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:159519912A>T	ENST00000389757.3	+	15	2657	c.2532A>T	c.(2530-2532)gaA>gaT	p.E844D	PKP4_ENST00000495123.1_3'UTR|PKP4_ENST00000389759.3_Missense_Mutation_p.E844D|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	844					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCACCTTGGAAGGCTCTGCAG	0.493										HNSCC(62;0.18)			34	54					0	0	0	0	T	159519912	A	T	159519912	3	4	271	1	0	0	0	0	1	0	0	0	12059	69	3	5	2586	5	PKP4	2	159519912	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	18160845	159519912	83679461	24	48670											
TTN	7273	broad.mit.edu	37	chr2	179581995	179581995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcggttatctttggccCaagtgattttgattggtgca	6	17	10	8	1	2	2	0	2	2	0	4	2	2	2	1	3	1	2	1	3	2	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:179581995C>A	ENST00000589042.1	-	88	25690	c.25466G>T	c.(25465-25467)tGg>tTg	p.W8489L	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.W8172L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W7245L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8172	Ig-like 67.						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)			ATCTTTGGCCCAAGTGATTTT	0.428													34	37					4.3181e-19	5.19771e-19	1	0	A	179581995	C	A	179581995	3	1	271	1	0	0	0	0	1	0	0	0	16831	595	21	4	79163	4	TTN	2	179581995	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	20062083	179581995	63617378	25	48671											
SRGAP3	9901	broad.mit.edu	37	chr3	9055160	9055160	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatgtgcatgagggtaggcCcgaagcagatggccaggttg	9	7	18	7	1	0	2	0	1	0	1	0	4	0	3	2	5	2	4	2	5	2	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:9055160C>A	ENST00000383836.3	-	17	2406	c.1979G>T	c.(1978-1980)gGg>gTg	p.G660V	SRGAP3_ENST00000360413.3_Missense_Mutation_p.G636V	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	660	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GAGGGTAGGCCCGAAGCAGAT	0.527			T	RAF1	pilocytic astrocytoma								8	36					5.18039e-06	5.61209e-06	1	0	A	9055160	C	A	9055160	3	1	271	1	0	0	0	0	1	0	0	0	15237	623	22	4	1344	4	SRGAP3	3	9055160	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08		9055160	188967270	26	48672											
TRANK1	9881	broad.mit.edu	37	chr3	36873305	36873305	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccttgactcaatctccCggaagtggcgatacaggaga	11	7	12	11	2	2	2	1	1	1	1	3	5	2	3	2	3	2	1	2	3	3	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:36873305C>A	ENST00000301807.6	-	21	7884	c.5987G>T	c.(5986-5988)cGg>cTg	p.R1996L	TRANK1_ENST00000429976.2_Missense_Mutation_p.R2546L|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1996L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2546					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCAATCTCCCGGAAGTGGCG	0.582													38	10					1.36161e-19	1.64916e-19	1	0	A	36873305	C	A	36873305	3	1	271	1	0	0	0	0	1	0	0	0	16549	652	23	3	1152	3	TRANK1	3	36873305	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	27818145	36873305	161149125	27	48673											
OR5H15	403274	broad.mit.edu	37	chr3	97888085	97888085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcacatttactgtgacaCtatcccattgtctaagattt	12	15	4	10	0	2	2	1	1	1	1	3	2	3	2	1	0	1	0	1	0	3	6	rs62266800		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:97888085C>A	ENST00000356526.2	+	1	542	c.542C>A	c.(541-543)aCt>aAt	p.T181N		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TACTGTGACACTATCCCATTG	0.313													24	4					1.04121e-07	1.14065e-07	1	0	A	97888085	C	A	97888085	3	1	271	1	0	0	0	0	1	0	0	0	11232	565	20	4	544	4	OR5H15	3	97888085	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	61014780	97888085	100134345	28	48674											
CBLB	868	broad.mit.edu	37	chr3	105572471	105572471	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagtatatatggtgggctaTttttcaactgaagtttggga	11	15	11	4	0	1	1	1	1	0	0	1	2	1	2	0	3	1	3	0	3	7	7			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:105572471T>C	ENST00000264122.4	-	3	527	c.206A>G	c.(205-207)aAt>aGt	p.N69S	CBLB_ENST00000545639.1_Missense_Mutation_p.N91S|CBLB_ENST00000403724.1_Missense_Mutation_p.N69S|CBLB_ENST00000405772.1_Missense_Mutation_p.N69S|CBLB_ENST00000394027.3_Missense_Mutation_p.N91S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	69	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGGTGGGCTATTTTTCAACTG	0.289			Mis S		AML								58	6					0	0	0	0	C	105572471	T	C	105572471	3	2	271	1	0	0	0	0	1	0	0	0	2726	1493	52	5	2810	5	CBLB	3	105572471	Missense_Mutation	SNP	T	TCGA-CV-6962-01A-11D-1912-08	7684386	105572471	92449959	29	48675											
IGSF11	152404	broad.mit.edu	37	chr3	118623581	118623581	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctaaaattagtgcaatgcaAaaaatgataataactgcacc	19	9	5	8	0	0	1	0	1	0	0	0	1	0	1	2	0	4	3	2	0	9	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:118623581A>T	ENST00000354673.2	-	8	1145	c.765T>A	c.(763-765)ttT>ttA	p.F255L	IGSF11_ENST00000425327.2_Missense_Mutation_p.F255L|IGSF11_ENST00000489689.1_Missense_Mutation_p.F232L|IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000393775.2_Missense_Mutation_p.F256L|IGSF11_ENST00000441144.2_Missense_Mutation_p.F231L	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	256					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTGCAATGCAAAAAATGATAA	0.348													81	137					0	0	0	0	T	118623581	A	T	118623581	3	4	271	1	0	0	0	0	1	0	0	0	7651	11	1	5	535	5	IGSF11	3	118623581	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	13051110	118623581	79398849	30	48676											
PLD1	5337	broad.mit.edu	37	chr3	171431702	171431702	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaaagattatcaattcGgattccatatttcgtttctg	10	17	6	8	2	2	2	1	1	1	1	5	3	3	3	2	1	0	1	2	1	4	7			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:171431702G>A	ENST00000356327.5	-	9	962	c.892C>T	c.(892-894)Cga>Tga	p.R298*	PLD1_ENST00000342215.6_Nonsense_Mutation_p.R298*|PLD1_ENST00000340989.4_Nonsense_Mutation_p.R298*|PLD1_ENST00000351298.4_Nonsense_Mutation_p.R298*	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	298	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTATCAATTCGGATTCCATAT	0.338													86	9					0	0	0	0	A	171431702	G	A	171431702	4	1	271	1	0	0	0	0	0	1	0	0	12117	1124	39	1	2408	1	PLD1	3	171431702	Nonsense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	52808121	171431702	26590728	31	48677											
DGKG	1608	broad.mit.edu	37	chr3	185986617	185986617	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaccacacgcagtgccgCgcggtgacactctggtagca	8	5	13	15	5	1	1	0	1	1	0	1	1	1	1	2	3	2	4	2	3	1	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:185986617C>T	ENST00000265022.3	-	12	1628	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A	DGKG_ENST00000382164.4_Intron|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000344484.4_Silent_p.A363A	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	363					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGCAGTGCCGCGCGGTGACAC	0.612													21	30					0	0	0	0	T	185986617	C	T	185986617	2	4	271	1	0	0	0	0	0	0	0	1	4506	755	27	1		1	DGKG	3	185986617	Silent	SNP	C	TCGA-CV-6962-01A-11D-1912-08	14554915	185986617	12035813	32	48678											
TECRL	253017	broad.mit.edu	37	chr4	65274963	65274963	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagagtacaagttttgacAaaaagtgaaaatttctcata	17	12	7	5	0	1	3	1	3	1	1	2	4	1	3	0	0	1	2	0	0	7	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr4:65274963A>G	ENST00000381210.3	-	1	217	c.107T>C	c.(106-108)tTg>tCg	p.L36S	TECRL_ENST00000507440.1_Missense_Mutation_p.L36S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	36					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AAGTTTTGACAAAAAGTGAAA	0.413													12	40					0	0	0	0	G	65274963	A	G	65274963	3	3	271	1	0	0	0	0	1	0	0	0	15840	131	5	5	1032	5	TECRL	4	65274963	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08		65274963	125879313	33	48679											
ANKRD17	26057	broad.mit.edu	37	chr4	73984419	73984419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttatacctttctaaatgctgCcataagaggagttatcttgc	11	15	7	8	0	2	1	0	0	2	1	2	2	2	2	2	1	4	2	2	1	6	7			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr4:73984419C>G	ENST00000358602.4	-	22	4290	c.4174G>C	c.(4174-4176)Gca>Cca	p.A1392P	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1279P|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1141P|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1392					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAAATGCTGCCATAAGAGGA	0.423													47	19					0	0	0	0	G	73984419	C	G	73984419	3	3	271	1	0	0	0	0	1	0	0	0	646	739	26	4	3689	4	ANKRD17	4	73984419	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	8709456	73984419	117169857	34	48680											
SCAMP1	9522	broad.mit.edu	37	chr5	77714718	77714718	+	Frame_Shift_Del	DEL	T	T	-																															cagtaaagcttatgtactacTtgtggatgtgtgagtataca																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:77714718delT	ENST00000538629.1	+	5	620	c.463delT	c.(463-465)tgfs	p.L155fs	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	155					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TATGTACTACTTGTGGATGTG	0.338													9	8	---	---	---	---					-	77714718	T	-	77714718	7	5	271	1	0	1	0	1	0	0	0	0	13956	1606	56	0	481	0	SCAMP1	5	77714718	Frame_Shift_Del	DEL	T	TCGA-CV-6962-01A-11D-1912-08		77714718	103200542	35	48681											
APC	324	broad.mit.edu	37	chr5	112175951	112175952	+	Frame_Shift_Ins	INS	-	-	A																															aaaccaagagaaagaggcagINSaaaaaactattgattctgaa																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:112175951_112175952insA	ENST00000457016.1	+	16	5040_5041	c.4660_4661insA	c.(4660-4662)aaafs	p.K1554fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Ins_p.K1554fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.K1554fs			P25054	APC_HUMAN	adenomatous polyposis coli	1554	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.T1556fs*3(42)|p.E1554fs*5(2)|p.E1554fs*3(1)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAAGAGGCAGAAAAAACTATT	0.342		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			33	14	---	---	---	---					A	112175952	-	A	112175951	7	5	271	1	0	1	1	0	0	0	0	0	764	943	33	0	4718	0	APC	5	112175951	Frame_Shift_Ins	INS	-	TCGA-CV-6962-01A-11D-1912-08	34461233	112175951	68739309	36	48682											
ADAMTS19	171019	broad.mit.edu	37	chr5	128796153	128796153	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctttaccagctggggttCctgtcgaatgggatcgtttc	5	14	11	11	2	0	0	0	0	0	0	5	2	2	1	3	3	2	3	3	3	2	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:128796153C>T	ENST00000274487.4	+	1	196	c.51C>T	c.(49-51)ttC>ttT	p.F17F	ADAMTS19-AS1_ENST00000502827.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	17					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGCTGGGGTTCCTGTCGAATG	0.622													56	19					0	0	0	0	T	128796153	C	T	128796153	2	4	271	1	0	0	0	0	0	0	0	1	264	854	30	2		2	ADAMTS19	5	128796153	Silent	SNP	C	TCGA-CV-6962-01A-11D-1912-08	16620202	128796153	52119107	37	48683											
PCDHGA4	56111	broad.mit.edu	37	chr5	140734960	140734960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcggagcgcggagtcCgcatcgtctccagaggtagg	7	6	17	11	5	1	1	0	0	1	1	4	3	2	3	2	5	2	3	2	5	1	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:140734960C>T	ENST00000571252.1	+	1	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGAGTCCGCATCGTCTC	0.647													51	23					0	0	0	0	T	140734960	C	T	140734960	3	4	271	1	0	0	0	0	1	0	0	0	11627	652	23	1	195	1	PCDHGA4	5	140734960	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	11938807	140734960	40180300	38	48684											
DOCK2	1794	broad.mit.edu	37	chr5	169472903	169472904	+	Frame_Shift_Ins	INS	-	-	A																															actatgagctgctcagccagINSaacctggtaaggcatcccct																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:169472903_169472904insA	ENST00000256935.8	+	39	4040_4041	c.3960_3961insA	c.(3958-3963)caacctfs	p.P1321fs	DOCK2_ENST00000540750.1_Frame_Shift_Ins_p.P382fs|DOCK2_ENST00000520908.1_Frame_Shift_Ins_p.P813fs|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1321	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.N1321fs*10(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCTCAGCCAGAACCTGGTAAG	0.584													20	59	---	---	---	---					A	169472904	-	A	169472903	7	5	271	1	0	1	1	0	0	0	0	0	4723	933	33	0	4114	0	DOCK2	5	169472903	Frame_Shift_Ins	INS	-	TCGA-CV-6962-01A-11D-1912-08	28737943	169472903	11442357	39	48685											
KIF13A	63971	broad.mit.edu	37	chr6	17764996	17764996	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgctggtggtagggctaCgggacacttctttctccaag	7	12	12	10	1	2	0	0	0	2	0	3	1	2	1	1	4	3	3	1	4	4	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr6:17764996C>A	ENST00000378814.5	-	37	4618	c.4619G>T	c.(4618-4620)cGt>cTt	p.R1540L	KIF13A_ENST00000378843.2_Missense_Mutation_p.R1540L|KIF13A_ENST00000259711.6_Missense_Mutation_p.R1588L|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1553L|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1553L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1588					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTAGGGCTACGGGACACTTC	0.502													11	6					3.86212e-05	4.11537e-05	1	0	A	17764996	C	A	17764996	3	1	271	1	0	0	0	0	1	0	0	0	8325	536	19	3	683	3	KIF13A	6	17764996	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08		17764996	153350071	40	48686											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217266	26217266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaaaacgcgttcttccaggGccggtcttcagtttccagtt	7	13	9	12	3	3	0	1	0	2	0	5	0	5	0	3	2	1	3	3	2	2	6			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr6:26217266G>A	ENST00000303910.2	+	1	102	c.64G>A	c.(64-66)Gcc>Acc	p.A22T		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	22					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TTCTTCCAGGGCCGGTCTTCA	0.577													22	12					0	0	0	0	A	26217266	G	A	26217266	3	1	271	1	0	0	0	0	1	0	0	0	7182	1203	42	4	66	4	HIST1H2AE	6	26217266	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	8452270	26217266	144897801	41	48687											
TNRC18	84629	broad.mit.edu	37	chr7	5391493	5391493	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcgctgaaggaggaacgCgcctcggcctctcgaagcag	9	5	15	12	5	1	1	0	1	1	0	4	5	1	3	2	3	2	2	2	3	3	0			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:5391493C>T	ENST00000399537.4	-	17	5775	c.5427G>A	c.(5425-5427)gcG>gcA	p.A1809A	TNRC18_ENST00000430969.1_Silent_p.A1809A			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1809							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGGAGGAACGCGCCTCGGCCT	0.592													15	12					0	0	0	0	T	5391493	C	T	5391493	2	4	271	1	0	0	0	0	0	0	0	1	16433	755	27	1		1	TNRC18	7	5391493	Silent	SNP	C	TCGA-CV-6962-01A-11D-1912-08		5391493	153747170	42	48688											
HDAC9	9734	broad.mit.edu	37	chr7	18625006	18625006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtggaccctgttgtccGtgagaagcaattgcagcagg	8	9	15	9	2	0	1	0	1	0	1	1	3	1	2	2	3	3	4	2	3	2	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:18625006G>A	ENST00000406451.3	+	3	275	c.125G>A	c.(124-126)cGt>cAt	p.R42H	HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000476135.1_3'UTR	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	42					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTGTTGTCCGTGAGAAGCAA	0.493													48	87					0	0	0	0	A	18625006	G	A	18625006	3	1	271	1	0	0	0	0	1	0	0	0	7064	1145	40	1	131	1	HDAC9	7	18625006	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	13233513	18625006	140513657	43	48689											
OSBPL3	26031	broad.mit.edu	37	chr7	24874174	24874174	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtactccagctcctcgcaGagcctctgcagcgtgttcag	6	10	10	15	2	2	1	1	0	1	1	5	1	4	1	3	0	5	5	3	0	1	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:24874174G>A	ENST00000313367.2	-	15	2128	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L	OSBPL3_ENST00000431825.2_Silent_p.L492L|OSBPL3_ENST00000409069.1_Silent_p.L492L|OSBPL3_ENST00000396431.1_Silent_p.L528L|OSBPL3_ENST00000396429.1_Silent_p.L523L|OSBPL3_ENST00000353930.1_Silent_p.L523L|OSBPL3_ENST00000352860.1_Silent_p.L528L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	559					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCTCCTCGCAGAGCCTCTGCA	0.617													44	68					0	0	0	0	A	24874174	G	A	24874174	2	1	271	1	0	0	0	0	0	0	0	1	11350	929	33	2		2	OSBPL3	7	24874174	Silent	SNP	G	TCGA-CV-6962-01A-11D-1912-08	6249168	24874174	134264489	44	48690											
CDK13	8621	broad.mit.edu	37	chr7	40037230	40037230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtccagaggaaaagaaaaCagcaacacagttacatagta	20	5	9	7	0	0	2	0	0	0	2	1	4	1	3	1	1	4	3	1	1	8	3	rs34775357	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:40037230C>G	ENST00000181839.4	+	3	2614	c.2009C>G	c.(2008-2010)aCa>aGa	p.T670R	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.T670R	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	670			T -> R (in dbSNP:rs34775357).		alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.T670R(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GAAAAGAAAACAGCAACACAG	0.433													3	123					0	0	0	0	G	40037230	C	G	40037230	3	3	271	1	0	0	0	0	1	0	0	0	3158	478	17	4	2019	4	CDK13	7	40037230	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	15163056	40037230	119101433	45	48691											
HECW1	23072	broad.mit.edu	37	chr7	43503399	43503399	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcttcccagtccagcttagGtattggaggaggggtcccca	8	10	12	11	0	1	0	0	0	1	0	4	2	4	2	4	5	1	2	4	5	2	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:43503399G>A	ENST00000395891.1	+	14	3396		c.e14+1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCCAGCTTAGGTATTGGAGGA	0.602													61	82					0	0	0	0	A	43503399	G	A	43503399	5	1	271	1	0	0	0	0	0	0	1	0	7092	1275	44	4	2838	4	HECW1	7	43503399	Splice_Site	SNP	G	TCGA-CV-6962-01A-11D-1912-08	3466169	43503399	115635264	46	48692											
ADCY1	107	broad.mit.edu	37	chr7	45614734	45614734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggctgcgtcgcacttgctgGtcacagccaccttggtcccc	4	10	11	16	2	1	0	1	0	0	0	3	0	2	0	4	3	3	3	4	3	0	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:45614734G>T	ENST00000297323.7	+	1	614	c.592G>T	c.(592-594)Gtc>Ttc	p.V198F	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	198					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCACTTGCTGGTCACAGCCAC	0.642													17	27					2.5808e-16	3.01351e-16	1	0	T	45614734	G	T	45614734	3	4	271	1	0	0	0	0	1	0	0	0	292	1261	44	4	594	4	ADCY1	7	45614734	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	2111335	45614734	113523929	47	48693											
COL1A2	1278	broad.mit.edu	37	chr7	94038122	94038122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctccaggcttcccaggtgCccctggccccaaggtaaaaa	9	6	9	17	0	0	0	0	0	0	0	2	0	2	0	7	4	1	2	7	4	4	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:94038122C>A	ENST00000297268.6	+	16	1250	c.779C>A	c.(778-780)gCc>gAc	p.A260D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	260					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTCCCAGGTGCCCCTGGCCCC	0.433										HNSCC(75;0.22)			7	63					1.26484e-09	1.4094e-09	1	0	A	94038122	C	A	94038122	3	1	271	1	0	0	0	0	1	0	0	0	3708	739	26	4	841	4	COL1A2	7	94038122	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	48423388	94038122	65100541	48	48694											
PON3	5446	broad.mit.edu	37	chr7	94996800	94996800	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaagatacacagtattgTctacatggaaaaaagggata	19	9	8	5	0	1	1	0	0	1	1	1	3	1	3	0	2	2	1	0	2	9	6			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:94996800T>C	ENST00000265627.5	-	5	378	c.367_splice	c.e5-1	p.D123_splice	PON3_ENST00000427422.1_Splice_Site_p.D123_splice|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			CACAGTATTGTCTACATGGAA	0.338													85	63					0	0	0	0	C	94996800	T	C	94996800	5	2	271	1	0	0	0	0	0	0	1	0	12322	1681	58	5	716	5	PON3	7	94996800	Splice_Site	SNP	T	TCGA-CV-6962-01A-11D-1912-08	958678	94996800	64141863	49	48695											
ASNS	440	broad.mit.edu	37	chr7	97488686	97488686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttttaaaaagggagtcGcggagtgcttcaatgtaaca	13	10	10	8	2	1	0	1	0	0	0	2	2	1	2	1	2	2	2	1	2	5	4	rs138299423		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:97488686G>A	ENST00000175506.4	-	6	1040	c.512C>T	c.(511-513)gCg>gTg	p.A171V	ASNS_ENST00000422745.1_Missense_Mutation_p.A150V|ASNS_ENST00000437628.1_Missense_Mutation_p.A88V|ASNS_ENST00000455086.1_Missense_Mutation_p.A88V|ASNS_ENST00000394309.3_Missense_Mutation_p.A171V|ASNS_ENST00000394308.3_Missense_Mutation_p.A171V|ASNS_ENST00000444334.1_Missense_Mutation_p.A150V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	171	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAAGGGAGTCGCGGAGTGCTT	0.368													39	63					0	0	0	0	A	97488686	G	A	97488686	3	1	271	1	0	0	0	0	1	0	0	0	1052	1087	38	1	1209	1	ASNS	7	97488686	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	2491886	97488686	61649977	50	48696											
MUC17	140453	broad.mit.edu	37	chr7	100676474	100676474	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctagcaccacttcaacaActcctgctgactccaacact	12	8	5	16	0	1	1	1	1	0	0	3	1	3	1	3	1	5	3	3	1	4	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:100676474A>G	ENST00000306151.4	+	3	1841	c.1777A>G	c.(1777-1779)Act>Gct	p.T593A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	593	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCAACAACTCCTGCTGA	0.478													8	665					0	0	0	0	G	100676474	A	G	100676474	3	3	271	1	0	0	0	0	1	0	0	0	10044	43	2	5	1787	5	MUC17	7	100676474	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	3187788	100676474	58462189	51	48697											
MUC17	140453	broad.mit.edu	37	chr7	100684754	100684754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttcagcaccacgccagtgGtcagttctgaggctagcacc	8	9	10	14	1	3	1	2	1	1	0	3	1	3	1	3	2	2	4	3	2	1	3			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:100684754G>A	ENST00000306151.4	+	3	10121	c.10057G>A	c.(10057-10059)Gtc>Atc	p.V3353I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3353	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACGCCAGTGGTCAGTTCTGA	0.483													450	370					0	0	0	0	A	100684754	G	A	100684754	3	1	271	1	0	0	0	0	1	0	0	0	10044	1261	44	4	10067	4	MUC17	7	100684754	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	8280	100684754	58453909	52	48698											
SERPINE1	5054	broad.mit.edu	37	chr7	100771855	100771855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtggttttctcaccctatGgggtggcctcggtgttggcc	3	13	14	11	2	1	0	1	0	1	0	3	0	1	0	3	6	0	2	3	6	1	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:100771855G>A	ENST00000223095.4	+	2	338	c.181G>A	c.(181-183)Ggg>Agg	p.G61R	SERPINE1_ENST00000445463.2_Missense_Mutation_p.G46R	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	61					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CTCACCCTATGGGGTGGCCTC	0.592													37	37					0	0	0	0	A	100771855	G	A	100771855	3	1	271	1	0	0	0	0	1	0	0	0	14198	1348	47	4	183	4	SERPINE1	7	100771855	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	87101	100771855	58366808	53	48699											
SRPK2	6733	broad.mit.edu	37	chr7	104787081	104787081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgatcttgcacttactgtGtaagtaatctaacccttgaa	13	14	6	8	0	2	2	0	2	2	0	2	2	2	2	1	0	3	3	1	0	6	6			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:104787081G>T	ENST00000357311.3	-	7	784	c.613C>A	c.(613-615)Cac>Aac	p.H205N	SRPK2_ENST00000489828.1_Missense_Mutation_p.H205N|SRPK2_ENST00000393651.3_Missense_Mutation_p.H216N	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	205	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CACTTACTGTGTAAGTAATCT	0.338													10	37					3.03607e-14	3.50316e-14	1	0	T	104787081	G	T	104787081	3	4	271	1	0	0	0	0	1	0	0	0	15250	1377	48	4	1489	4	SRPK2	7	104787081	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	4015226	104787081	54351582	54	48700											
BCAP29	55973	broad.mit.edu	37	chr7	107234422	107234422	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgtgagagaagtaaggaaAtattcctcagttcataccat	14	11	9	7	0	2	2	2	1	0	1	3	4	3	3	2	1	1	3	2	1	5	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:107234422A>G	ENST00000379119.2	+	3	230	c.216A>G	c.(214-216)aaA>aaG	p.K72K	BCAP29_ENST00000005259.4_Silent_p.K72K|BCAP29_ENST00000379117.2_Silent_p.K72K|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000445771.2_Silent_p.K72K|BCAP29_ENST00000465919.1_5'UTR	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	72					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AAGTAAGGAAATATTCCTCAG	0.353													49	33					0	0	0	0	G	107234422	A	G	107234422	2	3	271	1	0	0	0	0	0	0	0	1	1350	98	4	5		5	BCAP29	7	107234422	Silent	SNP	A	TCGA-CV-6962-01A-11D-1912-08	2447341	107234422	51904241	55	48701											
NRCAM	4897	broad.mit.edu	37	chr7	107831704	107831704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatattagtttaccgtaaaCgggagctggagttggagtag	11	12	13	5	2	1	0	1	0	0	0	1	3	1	3	1	3	3	5	1	3	6	7			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:107831704C>T	ENST00000379028.3	-	19	2397	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I	NRCAM_ENST00000413765.2_Missense_Mutation_p.V624I|NRCAM_ENST00000425651.2_Missense_Mutation_p.V643I|NRCAM_ENST00000379024.4_Missense_Mutation_p.V624I|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.V643I			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	643					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTACCGTAAACGGGAGCTGGA	0.318													9	15					0	0	0	0	T	107831704	C	T	107831704	3	4	271	1	0	0	0	0	1	0	0	0	10715	536	19	1	2077	1	NRCAM	7	107831704	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	597282	107831704	51306959	56	48702											
PNPLA8	50640	broad.mit.edu	37	chr7	108154727	108154727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttatcaatactcaccCttgcgataatctacaaagac	13	12	4	12	1	3	1	2	0	1	1	4	2	4	1	2	0	3	1	2	0	6	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:108154727C>T	ENST00000426128.2	-	3	1192	c.1067G>A	c.(1066-1068)aGg>aAg	p.R356K	PNPLA8_ENST00000453144.1_Missense_Mutation_p.R256K|PNPLA8_ENST00000422087.1_Missense_Mutation_p.R356K|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R356K|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R356K|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R356K	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	356					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AATACTCACCCTTGCGATAAT	0.348													157	156					0	0	0	0	T	108154727	C	T	108154727	3	4	271	1	0	0	0	0	1	0	0	0	12243	681	24	4	1313	4	PNPLA8	7	108154727	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	323023	108154727	50983936	57	48703											
HYAL4	23553	broad.mit.edu	37	chr7	123508362	123508362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggacagttaaagctttGtgttgttcaaccagtacatc	12	13	9	7	0	1	1	1	1	0	0	2	2	1	2	1	1	3	5	1	1	5	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:123508362G>A	ENST00000223026.4	+	3	673	c.35G>A	c.(34-36)tGt>tAt	p.C12Y	HYAL4_ENST00000476325.1_Missense_Mutation_p.C12Y	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	12					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTAAAGCTTTGTGTTGTTCAA	0.348													42	75					0	0	0	0	A	123508362	G	A	123508362	3	1	271	1	0	0	0	0	1	0	0	0	7519	1377	48	4	37	4	HYAL4	7	123508362	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	15353635	123508362	35630301	58	48704											
FLNC	2318	broad.mit.edu	37	chr7	128488731	128488731	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagttcaccatcgacgCacgggacgcgggcgaggggt	7	6	18	10	6	1	0	1	0	0	0	2	4	1	2	1	5	0	2	1	5	0	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:128488731C>G	ENST00000325888.8	+	27	4958	c.4697C>G	c.(4696-4698)gCa>gGa	p.A1566G	FLNC_ENST00000346177.6_Missense_Mutation_p.A1566G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1566					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						ACCATCGACGCACGGGACGCG	0.662													41	133					0	0	0	0	G	128488731	C	G	128488731	3	3	271	1	0	0	0	0	1	0	0	0	5980	710	25	4	4803	4	FLNC	7	128488731	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	4980369	128488731	30649932	59	48705											
KLF14	136259	broad.mit.edu	37	chr7	130418557	130418557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggagcttcccccgagttctCccaggagccctcgccagagc	6	7	11	17	2	1	1	0	0	1	1	4	4	2	3	5	2	3	2	5	2	0	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:130418557C>T	ENST00000310992.4	-	1	331	c.304G>A	c.(304-306)Gag>Aag	p.E102K		NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					CCCGAGTTCTCCCAGGAGCCC	0.771													4	5					0	0	0	0	T	130418557	C	T	130418557	3	4	271	1	0	0	0	0	1	0	0	0	8394	864	30	2	671	2	KLF14	7	130418557	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	1929826	130418557	28720106	60	48706											
EPHB6	2051	broad.mit.edu	37	chr7	142568363	142568363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcctggctttcagccattgGactggagtgctaccaggaca	8	9	13	11	0	1	0	1	0	0	0	1	3	1	3	3	5	3	2	3	5	1	3			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:142568363G>T	ENST00000392957.2	+	19	3669	c.2882G>T	c.(2881-2883)gGa>gTa	p.G961V	EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.G961V|EPHB6_ENST00000411471.2_Missense_Mutation_p.G684V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	961	SAM.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCAGCCATTGGACTGGAGTGC	0.597													36	127					9.17885e-22	1.11867e-21	1	0	T	142568363	G	T	142568363	3	4	271	1	0	0	0	0	1	0	0	0	5216	1174	41	2	2940	2	EPHB6	7	142568363	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	12149806	142568363	16570300	61	48707											
GIMAP6	474344	broad.mit.edu	37	chr7	150325295	150325295	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgtgaaccggcccagttGtgtcaccaggagcacggcgt	8	7	13	13	4	1	1	1	1	0	0	2	2	2	2	4	3	2	2	4	3	1	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:150325295G>A	ENST00000328902.5	-	3	607	c.391C>T	c.(391-393)Caa>Taa	p.Q131*	GIMAP6_ENST00000493969.1_Missense_Mutation_p.T56I	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	131							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCCCAGTTGTGTCACCAGG	0.632													17	89					0	0	0	0	A	150325295	G	A	150325295	4	1	271	1	0	0	0	0	0	1	0	0	6434	1386	48	4	491	4	GIMAP6	7	150325295	Nonsense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	7756932	150325295	8813368	62	48708											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864434	22864434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccacctccgcaatgtgcagCggcctctgctgcaggcaccc	6	6	10	19	2	1	0	0	0	1	0	2	0	2	0	5	2	4	5	5	2	1	0			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:22864434C>T	ENST00000251822.6	+	5	1213	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	RHOBTB2_ENST00000522948.1_Missense_Mutation_p.R233W|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.R248W|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	226					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAATGTGCAGCGGCCTCTGCT	0.662													52	19					0	0	0	0	T	22864434	C	T	22864434	3	4	271	1	0	0	0	0	1	0	0	0	13417	759	27	1	775	1	RHOBTB2	8	22864434	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08		22864434	123499588	63	48709											
ENTPD4	9583	broad.mit.edu	37	chr8	23243522	23243522	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacaacacagctttggacaAccccctgagcaaggtattat	13	8	8	12	0	0	1	0	1	0	0	0	2	0	2	2	2	4	4	2	2	5	3			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:23243522A>T	ENST00000356206.6	-	13	1870	c.1635T>A	c.(1633-1635)ggT>ggA	p.G545G	LOXL2_ENST00000389131.3_Intron			Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	0					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		gCTTTGGacaaccccctgagc	0.463													39	14					0	0	0	0	T	23243522	A	T	23243522	2	4	271	1	0	0	0	0	0	0	0	1	5179	58	2	5		5	ENTPD4	8	23243522	Silent	SNP	A	TCGA-CV-6962-01A-11D-1912-08	379088	23243522	123120500	64	48710											
CLVS1	157807	broad.mit.edu	37	chr8	62289235	62289235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgaagatccggagcttcAgataaatggcttcattttaa	14	12	8	7	2	2	2	2	0	0	2	4	4	3	3	1	2	1	2	1	2	5	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:62289235A>G	ENST00000519846.1	+	4	999	c.527A>G	c.(526-528)cAg>cGg	p.Q176R	CLVS1_ENST00000325897.4_Missense_Mutation_p.Q176R|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	176	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCGGAGCTTCAGATAAATGGC	0.448													3	82					0	0	0	0	G	62289235	A	G	62289235	3	3	271	1	0	0	0	0	1	0	0	0	3601	188	7	5	533	5	CLVS1	8	62289235	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	39045713	62289235	84074787	65	48711											
TRHR	7201	broad.mit.edu	37	chr8	110099852	110099852	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtactcattatttgtggCctgggcattgtaggcaacat	8	15	10	8	0	1	0	1	0	0	0	1	0	1	0	1	3	2	4	1	3	4	6			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:110099852C>A	ENST00000518632.1	+	2	462	c.111C>A	c.(109-111)ggC>ggA	p.G37G	TRHR_ENST00000311762.2_Silent_p.G37G			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	37						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTATTTGTGGCCTGGGCATTG	0.507													38	53					3.21399e-22	3.96664e-22	1	0	A	110099852	C	A	110099852	2	1	271	1	0	0	0	0	0	0	0	1	16575	726	26	4		4	TRHR	8	110099852	Silent	SNP	C	TCGA-CV-6962-01A-11D-1912-08	47810617	110099852	36264170	66	48712											
KCNV1	27012	broad.mit.edu	37	chr8	110980617	110980617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgattttgcctgtggtggtGtctggtctaatgtccccata	6	15	11	9	1	2	0	0	0	2	0	3	1	3	0	3	3	1	0	3	3	2	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:110980617G>T	ENST00000524391.1	-	4	2235	c.1203C>A	c.(1201-1203)gaC>gaA	p.D401E	KCNV1_ENST00000297404.1_Missense_Mutation_p.D401E			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	401						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTGTGGTGGTGTCTGGTCTAA	0.478													43	73					4.67007e-22	5.72744e-22	1	0	T	110980617	G	T	110980617	3	4	271	1	0	0	0	0	1	0	0	0	8147	1368	48	4	303	4	KCNV1	8	110980617	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	880765	110980617	35383405	67	48713											
CDKN2A	1029	broad.mit.edu	37	chr9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacgggcagacggcccCaggcatcgcgcacgtccagc	7	3	14	17	5	0	1	0	0	0	1	3	1	2	1	4	4	1	3	4	4	0	0			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000530628.2_Silent_p.L124L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			43	5					0	0	0	0	T	21971029	C	T	21971029	4	4	271	1	0	0	0	0	0	1	0	0	3190	595	21	4	149	4	CDKN2A	9	21971029	Nonsense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08		21971029	119242402	68	48714											
KIAA1958	158405	broad.mit.edu	37	chr9	115407987	115407987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaatgatgacttgaatgAtctgtgtaccagtgcagtaa	13	14	9	5	0	1	4	0	4	1	0	1	4	1	4	1	0	2	3	1	0	5	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr9:115407987A>G	ENST00000337530.6	+	3	1525	c.1229A>G	c.(1228-1230)gAt>gGt	p.D410G	KIAA1958_ENST00000536272.1_Missense_Mutation_p.D438G	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	410										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GACTTGAATGATCTGTGTACC	0.383													16	40					0	0	0	0	G	115407987	A	G	115407987	3	3	271	1	0	0	0	0	1	0	0	0	8315	333	12	5	1235	5	KIAA1958	9	115407987	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	93436958	115407987	25805444	69	48715											
NOTCH1	4851	broad.mit.edu	37	chr9	139412359	139412359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagcccagcgtgttgatgCacttgcccgcatgctcgcag	7	8	13	13	3	0	1	0	1	0	0	1	2	0	2	2	1	5	5	2	1	0	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr9:139412359C>T	ENST00000277541.6	-	8	1361	c.1286G>A	c.(1285-1287)tGc>tAc	p.C429Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	429	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTGTTGATGCACTTGCCCGC	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			38	37					0	0	0	0	T	139412359	C	T	139412359	3	4	271	1	0	0	0	0	1	0	0	0	10617	710	25	4	6489	4	NOTCH1	9	139412359	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	24004372	139412359	1801072	70	48716											
ARMC4	55130	broad.mit.edu	37	chr10	28270429	28270429	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctgaaaattttggtgatTtttctcttaaaaatgtgaca	12	19	6	4	0	2	3	0	3	2	0	3	3	2	3	0	1	0	0	0	1	5	6			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:28270429T>C	ENST00000305242.5	-	7	994	c.902A>G	c.(901-903)aAa>aGa	p.K301R	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.K158R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	301							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTTTGGTGATTTTTCTCTTAA	0.294													42	9					0	0	0	0	C	28270429	T	C	28270429	3	2	271	1	0	0	0	0	1	0	0	0	957	1841	64	5	2288	5	ARMC4	10	28270429	Missense_Mutation	SNP	T	TCGA-CV-6962-01A-11D-1912-08		28270429	107264318	71	48717											
ITGB1	3688	broad.mit.edu	37	chr10	33199209	33199209	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccattcactgaatacgtaaaAtagaaccaacagtcgtcaac	17	8	5	11	2	2	2	2	1	0	1	3	2	2	2	2	0	4	1	2	0	8	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:33199209A>C	ENST00000396033.2	-	14	2241	c.2106T>G	c.(2104-2106)taT>taG	p.Y702*	ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Y702*	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	702					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				AATACGTAAAATAGAACCAAC	0.433													17	8					0	0	0	0	C	33199209	A	C	33199209	4	2	271	1	0	0	0	0	0	1	0	0	7943	108	4	5	540	5	ITGB1	10	33199209	Nonsense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	4928780	33199209	102335538	72	48718											
RBP3	5949	broad.mit.edu	37	chr10	48388214	48388214	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcatggatgcatataaGgggctgctgcccacctggta	8	9	15	9	0	0	0	0	0	0	0	0	1	0	1	2	5	3	5	2	5	3	3			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:48388214G>T	ENST00000224600.4	-	1	2777	c.2664C>A	c.(2662-2664)ccC>ccA	p.P888P		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	888	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ATGCATATAAGGGGCTGCTGC	0.647													18	13					6.94344e-10	7.78144e-10	1	0	T	48388214	G	T	48388214	2	4	271	1	0	0	0	0	0	0	0	1	13239	987	35	4		4	RBP3	10	48388214	Silent	SNP	G	TCGA-CV-6962-01A-11D-1912-08	15189005	48388214	87146533	73	48719											
ANK3	288	broad.mit.edu	37	chr10	61819590	61819590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgactggaggtccatctgcgGaatgctctatgttcccctgg	6	11	12	12	2	2	0	0	0	2	0	4	3	4	2	3	4	2	2	3	4	2	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:61819590G>T	ENST00000373827.2	-	40	5083	c.4913C>A	c.(4912-4914)tCc>tAc	p.S1638Y	RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000280772.1_Intron|ANK3_ENST00000503366.1_Missense_Mutation_p.S1645Y|ANK3_ENST00000355288.2_Missense_Mutation_p.S778Y	NM_001204403.1	NP_001191332.1	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3705	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCATCTGCGGAATGCTCTAT	0.468													50	19					6.87076e-12	7.83508e-12	1	0	T	61819590	G	T	61819590	3	4	271	1	0	0	0	0	1	0	0	0	622	1174	41	2	688	2	ANK3	10	61819590	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	13431376	61819590	73715157	74	48720											
NRAP	4892	broad.mit.edu	37	chr10	115384664	115384664	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatactgatggacagacTgctcatttcctgccttgtag	8	14	10	9	0	1	2	1	1	0	1	2	3	2	3	2	2	3	3	2	2	3	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:115384664T>A	ENST00000369358.4	-	22	2538	c.2294A>T	c.(2293-2295)cAg>cTg	p.Q765L	NRAP_ENST00000360478.3_Missense_Mutation_p.Q722L|NRAP_ENST00000369360.3_Missense_Mutation_p.Q730L|NRAP_ENST00000359988.3_Missense_Mutation_p.Q757L			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	757						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATGGACAGACTGCTCATTTCC	0.567													39	12					0	0	0	0	A	115384664	T	A	115384664	3	1	271	1	0	0	0	0	1	0	0	0	10709	1580	55	5	3006	5	NRAP	10	115384664	Missense_Mutation	SNP	T	TCGA-CV-6962-01A-11D-1912-08	53565074	115384664	20150083	75	48721											
EBF3	253738	broad.mit.edu	37	chr10	131640476	131640476	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgtgtgcagggttgttgcCcagggtggggatctggttgt	3	13	19	6	1	1	0	0	0	1	0	1	1	1	1	1	5	2	4	1	5	0	3			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:131640476C>A	ENST00000368648.3	-	13	1321	c.1249G>T	c.(1249-1251)Ggc>Tgc	p.G417C	EBF3_ENST00000355311.5_Missense_Mutation_p.G426C	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	426					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGGTTGTTGCCCAGGGTGGGG	0.597													64	41					1.42676e-28	1.81842e-28	1	0	A	131640476	C	A	131640476	3	1	271	1	0	0	0	0	1	0	0	0	4918	623	22	4	422	4	EBF3	10	131640476	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	16255812	131640476	3894271	76	48722											
NLRP6	171389	broad.mit.edu	37	chr11	284488	284488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccacagggtacagctgcctGacccccagcgagggctccag	8	4	12	17	1	0	1	0	1	0	0	1	2	1	1	5	2	4	3	5	2	1	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:284488G>A	ENST00000534750.1	+	7	2588	c.2383G>A	c.(2383-2385)Gac>Aac	p.D795N	NLRP6_ENST00000312165.5_Missense_Mutation_p.D796N	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	796						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACAGCTGCCTGACCCCCAGCG	0.697													18	7					0	0	0	0	A	284488	G	A	284488	3	1	271	1	0	0	0	0	1	0	0	0	10551	1290	45	2	2412	2	NLRP6	11	284488	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08		284488	134722028	77	48723											
OR51A4	401666	broad.mit.edu	37	chr11	4967665	4967665	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	attcccagtacagtcttgagGatcagggtgtaagacacagc	12	9	11	9	0	2	2	1	1	1	1	3	3	3	3	1	2	2	2	1	2	2	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:4967665G>C	ENST00000380373.2	-	1	691	c.666C>G	c.(664-666)atC>atG	p.I222M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTCTTGAGGATCAGGGTGT	0.433													23	13					0	0	0	0	C	4967665	G	C	4967665	3	2	271	1	0	0	0	0	1	0	0	0	11158	1164	41	2	277	2	OR51A4	11	4967665	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	4683177	4967665	130038851	78	48724											
PIK3C2A	5286	broad.mit.edu	37	chr11	17139063	17139063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgatccactagcctgcCttactttttctgctactcct	5	16	6	14	0	1	1	0	1	1	0	3	1	3	1	4	1	5	2	4	1	3	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:17139063C>T	ENST00000265970.7	-	18	3190	c.3191G>A	c.(3190-3192)aGg>aAg	p.R1064K	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R684K|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1064					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	ACTAGCCTGCCTTACTTTTTC	0.393													51	13					0	0	0	0	T	17139063	C	T	17139063	3	4	271	1	0	0	0	0	1	0	0	0	11981	681	24	4	1929	4	PIK3C2A	11	17139063	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	12171398	17139063	117867453	79	48725											
SLC6A5	9152	broad.mit.edu	37	chr11	20652257	20652257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacactctaattgtcacctGcaccaacagtgccacaagca	13	7	7	14	0	2	0	1	0	1	0	2	1	2	1	3	1	4	2	3	1	3	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:20652257G>A	ENST00000525748.1	+	10	1793	c.1520G>A	c.(1519-1521)tGc>tAc	p.C507Y	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	507					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ATTGTCACCTGCACCAACAGT	0.493													5	115					0	0	0	0	A	20652257	G	A	20652257	3	1	271	1	0	0	0	0	1	0	0	0	14775	1319	46	4	1558	4	SLC6A5	11	20652257	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	3513194	20652257	114354259	80	48726											
OR4C6	219432	broad.mit.edu	37	chr11	55432771	55432771	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggaaaatctacttatTgtggtaactattatcacaag	13	14	8	6	0	2	0	1	0	1	0	2	1	2	1	0	2	3	2	0	2	8	6			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:55432771T>C	ENST00000314259.3	+	1	158	c.129T>C	c.(127-129)atT>atC	p.I43I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATCTACTTATTGTGGTAACTA	0.408													82	66					0	0	0	0	C	55432771	T	C	55432771	2	2	271	1	0	0	0	0	0	0	0	1	11123	1800	63	5		5	OR4C6	11	55432771	Silent	SNP	T	TCGA-CV-6962-01A-11D-1912-08	34780514	55432771	79573745	81	48727											
OR8I2	120586	broad.mit.edu	37	chr11	55861497	55861497	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggcagaaggccttctcCacctgcgcatcccacctcat	8	7	9	17	1	2	1	1	0	1	1	4	1	3	1	5	3	1	3	5	3	1	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:55861497C>A	ENST00000302124.2	+	1	745	c.714C>A	c.(712-714)tcC>tcA	p.S238S	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AGGCCTTCTCCACCTGCGCAT	0.493													62	66					4.60343e-24	5.82902e-24	1	0	A	55861497	C	A	55861497	2	1	271	1	0	0	0	0	0	0	0	1	11311	581	21	4		4	OR8I2	11	55861497	Silent	SNP	C	TCGA-CV-6962-01A-11D-1912-08	428726	55861497	79145019	82	48728											
OR8J3	81168	broad.mit.edu	37	chr11	55904545	55904545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaacaatattgaaataaGatactagaactgtaatcatg	21	10	5	5	0	1	3	1	1	0	2	1	3	1	3	0	0	3	1	0	0	10	6			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:55904545G>T	ENST00000301529.1	-	1	649	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATTGAAATAAGATACTAGAAC	0.363													26	42					2.41591e-17	2.83797e-17	1	0	T	55904545	G	T	55904545	3	4	271	1	0	0	0	0	1	0	0	0	11313	942	33	2	299	2	OR8J3	11	55904545	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	43048	55904545	79101971	83	48729											
OR4D6	219983	broad.mit.edu	37	chr11	59224764	59224764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactttgctggtggggcaGatatttttttcctctctgtg	4	18	10	9	0	1	1	0	0	1	1	4	1	3	1	2	3	1	2	2	3	1	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:59224764G>T	ENST00000300127.2	+	1	354	c.331G>T	c.(331-333)Gat>Tat	p.D111Y		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	111			D -> A (in dbSNP:rs17500380).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGGTGGGGCAGATATTTTTTT	0.483													50	139					3.76525e-18	4.44984e-18	1	0	T	59224764	G	T	59224764	3	4	271	1	0	0	0	0	1	0	0	0	11129	942	33	2	333	2	OR4D6	11	59224764	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	3320219	59224764	75781752	84	48730											
MEN1	4221	broad.mit.edu	37	chr11	64577227	64577227	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgacatcggagaccttctTcaccagctcacggctggaga	10	9	10	12	2	3	3	2	1	1	2	4	5	3	3	2	3	1	2	2	3	1	3			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:64577227T>A	ENST00000337652.1	-	2	858	c.355A>T	c.(355-357)Aag>Tag	p.K119*	MEN1_ENST00000394374.2_Nonsense_Mutation_p.K119*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.K119*|MEN1_ENST00000394376.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.K119*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.K119*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.K119*	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	119			Missing (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.K119del(2)|p.R115fs*60(1)|p.S114fs*60(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GAGACCTTCTTCACCAGCTCA	0.612			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				55	47					0	0	0	0	A	64577227	T	A	64577227	4	1	271	1	0	0	0	0	0	1	0	0	9541	1792	62	5	1528	5	MEN1	11	64577227	Nonsense_Mutation	SNP	T	TCGA-CV-6962-01A-11D-1912-08	5352463	64577227	70429289	85	48731											
WNT11	7481	broad.mit.edu	37	chr11	75907652	75907652	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcaccaccgtgtgcatgAgctccaggttgctgcggcac	6	8	13	14	3	0	1	0	1	0	0	1	1	1	1	3	2	5	6	3	2	0	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:75907652A>G	ENST00000322563.3	-	2	318	c.194T>C	c.(193-195)cTc>cCc	p.L65P		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	65					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CGTGTGCATGAGCTCCAGGTT	0.647													40	26					0	0	0	0	G	75907652	A	G	75907652	3	3	271	1	0	0	0	0	1	0	0	0	17480	304	11	5	886	5	WNT11	11	75907652	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	11330425	75907652	59098864	86	48732											
PCF11	51585	broad.mit.edu	37	chr11	82881002	82881002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actttggcaatatacctgctCcaatgacagtaggaaatatt	14	12	7	8	0	0	1	0	1	0	0	1	2	1	2	2	2	2	3	2	2	7	6			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:82881002C>A	ENST00000298281.4	+	8	4077	c.3625C>A	c.(3625-3627)Cca>Aca	p.P1209T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1209					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TATACCTGCTCCAATGACAGT	0.348													12	14					3.07112e-06	3.34563e-06	1	0	A	82881002	C	A	82881002	3	1	271	1	0	0	0	0	1	0	0	0	11644	855	30	2	3655	2	PCF11	11	82881002	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	6973350	82881002	52125514	87	48733											
CCDC89	220388	broad.mit.edu	37	chr11	85396180	85396180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggatcccatctactttgcGctgaagctccctgactctca	7	12	7	15	1	2	2	1	2	2	0	5	3	4	3	2	1	3	2	2	1	2	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:85396180G>A	ENST00000316398.3	-	1	1140	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	332						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCTACTTTGCGCTGAAGCTCC	0.498													23	71					0	0	0	0	A	85396180	G	A	85396180	3	1	271	1	0	0	0	0	1	0	0	0	2893	1087	38	1	134	1	CCDC89	11	85396180	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	2515178	85396180	49610336	88	48734											
ANKK1	255239	broad.mit.edu	37	chr11	113266828	113266828	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tattatccgagtggcggcagGcatgcggccctccctacagc	7	8	12	14	3	0	0	0	0	0	0	2	1	2	0	3	4	3	2	3	4	3	3			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:113266828G>C	ENST00000303941.3	+	5	816	c.722G>C	c.(721-723)gGc>gCc	p.G241A		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	241	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GTGGCGGCAGGCATGCGGCCC	0.597													22	52					0	0	0	0	C	113266828	G	C	113266828	3	2	271	1	0	0	0	0	1	0	0	0	631	1203	42	4	740	4	ANKK1	11	113266828	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	27870648	113266828	21739688	89	48735											
OR8B4	283162	broad.mit.edu	37	chr11	124294456	124294456	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactcagaattgacaaagaaAcagaagaaaaatagctgagt	21	6	8	6	0	1	6	1	2	0	4	1	6	1	6	0	0	2	1	0	0	7	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:124294456A>C	ENST00000356130.3	-	1	333	c.312T>G	c.(310-312)tgT>tgG	p.C104W		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGACAAAGAAACAGAAGAAAA	0.423													16	51					0	0	0	0	C	124294456	A	C	124294456	3	2	271	1	0	0	0	0	1	0	0	0	11300	41	2	5	619	5	OR8B4	11	124294456	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	11027628	124294456	10712060	90	48736											
PRB3	5544	broad.mit.edu	37	chr12	11421068	11421068	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctccttgtgggcgtcGtccttctggctttcctggag	1	16	12	12	2	1	0	0	0	1	0	6	1	5	1	4	3	0	2	4	3	0	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:11421068G>A	ENST00000381842.3	-	0	152				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGTGGGCGTCGTCCTTCTGGC	0.547													57	92					0	0	0	0	A	11421068	G	A	11421068	1	1	271	0	1	0	0	0	0	0	0	0	12524	1153	40	1		1	PRB3	12	11421068	RNA	SNP	G	TCGA-CV-6962-01A-11D-1912-08		11421068	122430827	91	48737											
NELL2	4753	broad.mit.edu	37	chr12	44917184	44917184	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattctttccatgaggacAtcgacaatcatatccgccat	12	11	6	12	2	2	1	1	1	1	0	5	3	4	2	3	1	0	1	3	1	3	3			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:44917184A>T	ENST00000429094.2	-	17	2392	c.1888T>A	c.(1888-1890)Tgt>Agt	p.C630S	NELL2_ENST00000437801.2_Missense_Mutation_p.C680S|NELL2_ENST00000551601.1_Missense_Mutation_p.C582S|NELL2_ENST00000452445.2_Missense_Mutation_p.C630S|NELL2_ENST00000333837.4_Missense_Mutation_p.C653S|NELL2_ENST00000549027.1_Missense_Mutation_p.C629S|NELL2_ENST00000395487.2_Missense_Mutation_p.C629S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	630	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCATGAGGACATCGACAATCA	0.448													30	92					0	0	0	0	T	44917184	A	T	44917184	3	4	271	1	0	0	0	0	1	0	0	0	10404	217	8	5	578	5	NELL2	12	44917184	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	33496116	44917184	88934711	92	48738											
ESPL1	9700	broad.mit.edu	37	chr12	53662897	53662897	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgccatcctgagggcttgCaaccagcagctgactgctaa	10	8	11	12	0	0	2	0	2	0	0	1	3	1	2	3	1	6	5	3	1	2	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:53662897C>A	ENST00000257934.4	+	3	262	c.171C>A	c.(169-171)tgC>tgA	p.C57*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.C57*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	57					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGAGGGCTTGCAACCAGCAGC	0.572													40	31					1.96642e-18	2.35246e-18	1	0	A	53662897	C	A	53662897	4	1	271	1	0	0	0	0	0	1	0	0	5291	718	25	4	177	4	ESPL1	12	53662897	Nonsense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	8745713	53662897	80188998	93	48739											
SRGAP1	57522	broad.mit.edu	37	chr12	64505580	64505580	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagaatatgatggacccttAtaacctggccatttgctttg	10	14	9	8	0	0	2	0	2	0	1	0	4	0	3	3	2	2	1	3	2	4	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:64505580A>G	ENST00000355086.3	+	17	2482	c.1958A>G	c.(1957-1959)tAt>tGt	p.Y653C	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.Y630C|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Y590C	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	653	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATGGACCCTTATAACCTGGCC	0.378													21	55					0	0	0	0	G	64505580	A	G	64505580	3	3	271	1	0	0	0	0	1	0	0	0	15235	449	16	5	2024	5	SRGAP1	12	64505580	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	10842683	64505580	69346315	94	48740											
TMPO	7112	broad.mit.edu	37	chr12	98931317	98931317	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagagcaaagactccagtAacactcaagcaaagaagagt	18	4	10	9	0	1	4	1	0	0	4	2	4	2	4	1	1	3	4	1	1	5	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:98931317A>T	ENST00000556029.1	+	4	986	c.630A>T	c.(628-630)gtA>gtT	p.V210V	TMPO_ENST00000393053.2_Silent_p.V210V|TMPO_ENST00000343315.5_Silent_p.V210V|TMPO_ENST00000261210.5_Silent_p.V210V	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	210	NAKAP95-binding N.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGACTCCAGTAACACTCAAGC	0.388													7	14					0	0	0	0	T	98931317	A	T	98931317	2	4	271	1	0	0	0	0	0	0	0	1	16331	349	13	5		5	TMPO	12	98931317	Silent	SNP	A	TCGA-CV-6962-01A-11D-1912-08	34425737	98931317	34920578	95	48741											
GIT2	9815	broad.mit.edu	37	chr12	110427583	110427583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccatatagagttagcacCgttattatacaaggtctcaa	13	12	6	10	1	1	1	1	0	1	1	3	1	2	1	2	1	2	3	2	1	8	6			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:110427583C>T	ENST00000360185.4	-	3	375	c.211G>A	c.(211-213)Ggt>Agt	p.G71S	GIT2_ENST00000361006.5_Missense_Mutation_p.G71S|GIT2_ENST00000553118.1_Missense_Mutation_p.G71S|GIT2_ENST00000355312.3_Missense_Mutation_p.G71S|GIT2_ENST00000356259.4_Missense_Mutation_p.G71S|GIT2_ENST00000551209.1_Missense_Mutation_p.G71S|GIT2_ENST00000343646.5_Missense_Mutation_p.G71S|GIT2_ENST00000354574.4_Missense_Mutation_p.G71S|GIT2_ENST00000547815.1_Missense_Mutation_p.G71S|GIT2_ENST00000320063.9_Missense_Mutation_p.G71S|GIT2_ENST00000457474.2_Missense_Mutation_p.G71S|GIT2_ENST00000338373.5_Missense_Mutation_p.G71S			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	71	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GAGTTAGCACCGTTATTATAC	0.398													20	47					0	0	0	0	T	110427583	C	T	110427583	3	4	271	1	0	0	0	0	1	0	0	0	6448	652	23	1	2178	1	GIT2	12	110427583	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	11496266	110427583	23424312	96	48742											
RIMBP2	23504	broad.mit.edu	37	chr12	130892304	130892304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgggcgagctttctctgggGtcgtagtcatacagggccac	6	11	14	10	2	2	0	1	0	1	0	4	1	2	0	1	4	2	2	1	4	2	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:130892304G>T	ENST00000261655.4	-	16	3055	c.2892C>A	c.(2890-2892)gaC>gaA	p.D964E		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	964	SH3 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTTCTCTGGGGTCGTAGTCAT	0.552													109	218					4.95557e-46	6.5293e-46	1	0	T	130892304	G	T	130892304	3	4	271	1	0	0	0	0	1	0	0	0	13446	1252	44	4	282	4	RIMBP2	12	130892304	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	20464721	130892304	2959591	97	48743											
EP400	57634	broad.mit.edu	37	chr12	132491260	132491260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcaggtcaagtttaatgctCcatctttgttgtatggggct	7	16	11	7	0	2	0	1	0	1	0	3	0	3	0	1	3	2	6	1	3	3	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:132491260C>T	ENST00000333577.4	+	16	3359	c.3250C>T	c.(3250-3252)Cca>Tca	p.P1084S	EP400_ENST00000389561.2_Missense_Mutation_p.P1048S|EP400_ENST00000389562.2_Missense_Mutation_p.P1047S|EP400_ENST00000330386.6_Missense_Mutation_p.P1048S|EP400_ENST00000332482.4_Missense_Mutation_p.P1011S			Q96L91	EP400_HUMAN	E1A binding protein p400	1084	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTTTAATGCTCCATCTTTGTT	0.398													20	21					0	0	0	0	T	132491260	C	T	132491260	3	4	271	1	0	0	0	0	1	0	0	0	5187	855	30	2	3193	2	EP400	12	132491260	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	1598956	132491260	1360635	98	48744											
LIG4	3981	broad.mit.edu	37	chr13	108861972	108861972	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagaattacaaggttcaaTgtatacttctggcttctctg	11	14	8	8	0	3	1	1	0	2	1	4	2	3	1	0	2	2	3	0	2	6	6			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr13:108861972T>A	ENST00000356922.4	-	2	1917	c.1645A>T	c.(1645-1647)Att>Ttt	p.I549F	LIG4_ENST00000442234.1_Missense_Mutation_p.I549F|LIG4_ENST00000405925.1_Missense_Mutation_p.I549F	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	549					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAAGGTTCAATGTATACTTCT	0.403								Non-homologous end-joining					34	13					0	0	0	0	A	108861972	T	A	108861972	3	1	271	1	0	0	0	0	1	0	0	0	8837	1464	51	5	1094	5	LIG4	13	108861972	Missense_Mutation	SNP	T	TCGA-CV-6962-01A-11D-1912-08		108861972	6307906	99	48745											
DHRS4L2	317749	broad.mit.edu	37	chr14	24464313	24464313	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accctttctttggaagcctaAtggatgtcaccgaggaggtg	9	11	12	9	1	2	0	1	0	1	0	2	4	2	3	3	4	1	0	3	4	2	3			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:24464313A>C	ENST00000335125.6	+	3	505	c.379A>C	c.(379-381)Atg>Ctg	p.M127L	DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.M127L|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.M26L|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.M127L|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.M125L	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	74							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TGGAAGCCTAATGGATGTCAC	0.522													9	686					0	0	0	0	C	24464313	A	C	24464313	3	2	271	1	0	0	0	0	1	0	0	0	4531	101	4	5	389	5	DHRS4L2	14	24464313	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08		24464313	82885227	100	48746											
RALGAPA1	253959	broad.mit.edu	37	chr14	36207835	36207835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actggaatttcgaacatgatCagcagtattggtcccatttt	11	14	8	8	1	1	1	1	1	0	0	3	3	2	2	1	2	2	2	1	2	3	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:36207835C>T	ENST00000258840.6	-	12	1861	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D491N			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	491					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGAACATGATCAGCAGTATTG	0.388													5	133					0	0	0	0	T	36207835	C	T	36207835	3	4	271	1	0	0	0	0	1	0	0	0	13095	826	29	2	4908	2	RALGAPA1	14	36207835	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	11743522	36207835	71141705	101	48747											
DCAF4	26094	broad.mit.edu	37	chr14	73404779	73404779	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccgtgattctgaagacagGcaagtgtgccgctctgggga	8	9	14	10	2	2	3	0	2	2	1	3	4	3	4	2	3	1	2	2	3	2	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:73404779G>A	ENST00000553457.1	+	1	82		c.e1+1		DCAF4_ENST00000510612.1_Splice_Site|DCAF4_ENST00000509153.1_Splice_Site|DCAF4_ENST00000394234.2_Intron|DCAF4_ENST00000358377.2_Splice_Site|DCAF4_ENST00000555042.1_Splice_Site|DCAF4_ENST00000353777.3_Splice_Site			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4							CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CTGAAGACAGGCAAGTGTGCC	0.527													64	33					0	0	0	0	A	73404779	G	A	73404779	5	1	271	1	0	0	0	0	0	0	1	0	4303	1217	42	4	95	4	DCAF4	14	73404779	Splice_Site	SNP	G	TCGA-CV-6962-01A-11D-1912-08	37196944	73404779	33944761	102	48748											
PPP2R5C	5527	broad.mit.edu	37	chr14	102391561	102391561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccacaccaagaaagccttGgaagctcactgcagggccga	12	4	10	15	1	1	1	1	0	0	1	1	3	1	2	5	2	3	2	5	2	3	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:102391561G>C	ENST00000422945.2	+	16	1716	c.1620G>C	c.(1618-1620)ttG>ttC	p.L540F	PPP2R5C_ENST00000350249.3_Missense_Mutation_p.L470F|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.L509F|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.L525F	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	509					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAAAGCCTTGGAAGCTCACT	0.637													64	27					0	0	0	0	C	102391561	G	C	102391561	3	2	271	1	0	0	0	0	1	0	0	0	12470	1339	47	4	1974	4	PPP2R5C	14	102391561	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	28986782	102391561	4957979	103	48749											
ISLR2	57611	broad.mit.edu	37	chr15	74425610	74425610	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcgacgcgcttagcgCgctgtcacacttgcaactct	7	10	8	16	5	2	0	1	0	1	0	3	1	2	0	1	0	3	3	1	0	2	3			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr15:74425610C>A	ENST00000361742.3	+	4	1284	c.515C>A	c.(514-516)gCg>gAg	p.A172E	ISLR2_ENST00000419208.1_Missense_Mutation_p.A172E|ISLR2_ENST00000453268.2_Missense_Mutation_p.A172E|ISLR2_ENST00000565540.1_Missense_Mutation_p.A172E|ISLR2_ENST00000565159.1_Missense_Mutation_p.A172E|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000435464.1_Missense_Mutation_p.A172E|ISLR2_ENST00000445793.1_Missense_Mutation_p.A172E	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	172					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCGCTTAGCGCGCTGTCACAC	0.667													81	10					1.15773e-35	1.51515e-35	1	0	A	74425610	C	A	74425610	3	1	271	1	0	0	0	0	1	0	0	0	7912	768	27	3	517	3	ISLR2	15	74425610	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08		74425610	28105782	104	48750											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84582032	84582032	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcatgtgatgagagcccggCctcccgagagctagacatcc	10	6	12	13	2	0	4	0	2	0	3	2	6	2	4	4	1	3	2	4	1	1	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr15:84582032C>A	ENST00000286744.5	+	16	2113	c.1889C>A	c.(1888-1890)gCc>gAc	p.A630D	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A630D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	630						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGAGCCCGGCCTCCCGAGAG	0.612													58	14					6.60958e-23	8.20935e-23	1	0	A	84582032	C	A	84582032	3	1	271	1	0	0	0	0	1	0	0	0	276	739	26	4	1947	4	ADAMTSL3	15	84582032	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	10156422	84582032	17949360	105	48751											
AXIN1	8312	broad.mit.edu	37	chr16	343545	343545	+	Missense_Mutation	SNP	G	G	C																															cctcctccagacgtcggcgcGcctcctccagctgggttagg																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:343545G>C	ENST00000262320.3	-	8	2500	c.2129C>G	c.(2128-2130)gCg>gGg	p.A710G	AXIN1_ENST00000354866.3_Missense_Mutation_p.A710G	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	710	Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				ACGTCGGCGCGCCTCCTCCAG	0.667													81	24					0	0	0	0	C	343545	G	C	343545	3	2	271	1	0	0	0	0	1	0	0	0	1240	1087	38	3	475	3	AXIN1	16	343545	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08		343545	90011208	106	48752	380	2									
AXIN1	8312	broad.mit.edu	37	chr16	343549	343549	+	Missense_Mutation	SNP	C	C	T																															ctccagacgtcggcgcgcctCctccagctgggttagggggt																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:343549C>T	ENST00000262320.3	-	8	2496	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	AXIN1_ENST00000354866.3_Missense_Mutation_p.E709K	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	709	Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CGGCGCGCCTCCTCCAGCTGG	0.677													86	25					0	0	0	0	T	343549	C	T	343549	3	4	271	1	0	0	0	0	1	0	0	0	1240	864	30	2	479	2	AXIN1	16	343549	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	4	343549	90011204	107	48753	380	2									
CREBBP	1387	broad.mit.edu	37	chr16	3788605	3788605	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccaataaggatctcatggTaaacggctgtgcggaggcaa	13	8	12	8	2	1	0	1	0	1	0	3	2	2	2	1	5	2	3	1	5	5	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:3788605T>C	ENST00000262367.5	-	26	5158	c.4349A>G	c.(4348-4350)tAc>tGc	p.Y1450C	CREBBP_ENST00000382070.3_Missense_Mutation_p.Y1412C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1450	Cys/His-rich.		Y -> H (in RSTS1).		cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.Y1450C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GATCTCATGGTAAACGGCTGT	0.398			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						20	3					0	0	0	0	C	3788605	T	C	3788605	3	2	271	1	0	0	0	0	1	0	0	0	3891	1638	57	5	3003	5	CREBBP	16	3788605	Missense_Mutation	SNP	T	TCGA-CV-6962-01A-11D-1912-08	3445056	3788605	86566148	108	48754											
VWA3A	146177	broad.mit.edu	37	chr16	22134933	22134933	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcccacacttctgcaGcaacagctcagcagagctat	10	8	9	14	0	2	1	1	0	1	1	2	1	2	1	1	1	6	5	1	1	2	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:22134933G>T	ENST00000389397.4	+	16	1533		c.e16-1		VWA3A_ENST00000389398.5_Splice_Site			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A							extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CACTTCTGCAGCAACAGCTCA	0.572													38	85					2.35968e-33	3.06759e-33	1	0	T	22134933	G	T	22134933	5	4	271	1	0	0	0	0	0	0	1	0	17336	985	34	4	1499	4	VWA3A	16	22134933	Splice_Site	SNP	G	TCGA-CV-6962-01A-11D-1912-08	18346328	22134933	68219820	109	48755											
SCNN1B	6338	broad.mit.edu	37	chr16	23391989	23391989	+	Frame_Shift_Del	DEL	G	G	-																															ccagcctgacacggccccccGcagccccaacactgggccct																								rs140945152		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:23391989delG	ENST00000343070.2	+	13	1966	c.1790delG	c.(1789-1791)ccfs	p.R597fs	SCNN1B_ENST00000568923.1_Frame_Shift_Del_p.R570fs|SCNN1B_ENST00000568085.1_Frame_Shift_Del_p.R561fs|SCNN1B_ENST00000307331.5_Frame_Shift_Del_p.R642fs	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	597			R -> H.		excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACGGCCCCCCGCAGCCCCAAC	0.711													23	40	---	---	---	---					-	23391989	G	-	23391989	7	5	271	1	0	1	0	1	0	0	0	0	14015	1087	38	0	1836	0	SCNN1B	16	23391989	Frame_Shift_Del	DEL	G	TCGA-CV-6962-01A-11D-1912-08	1257056	23391989	66962764	110	48756											
PALB2	79728	broad.mit.edu	37	chr16	23646401	23646401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcagtgggcccagcgggaGagctgactttagttaatgag	9	10	14	8	1	1	3	1	2	0	1	1	4	1	3	1	2	2	2	1	2	2	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:23646401G>A	ENST00000261584.4	-	4	1618	c.1466C>T	c.(1465-1467)tCt>tTt	p.S489F		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	489					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CCCAGCGGGAGAGCTGACTTT	0.468			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					21	163					0	0	0	0	A	23646401	G	A	23646401	3	1	271	1	0	0	0	0	1	0	0	0	11477	942	33	2	2134	2	PALB2	16	23646401	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	254412	23646401	66708352	111	48757											
LAT	27040	broad.mit.edu	37	chr16	29000849	29000849	+	Splice_Site	DEL	G	G	-																															gggcctggcttttccacagtGgagtccattgatgattacgt																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:29000849delG	ENST00000395456.2	+	9	817	c.493_splice	c.e9-1	p.M165_splice	LAT_ENST00000564277.1_Splice_Site_p.M164_splice|RP11-264B17.3_ENST00000569969.1_RNA|RP11-264B17.5_ENST00000561471.1_RNA|LAT_ENST00000454369.2_Splice_Site_p.M164_splice|LAT_ENST00000360872.5_Splice_Site_p.M194_splice|LAT_ENST00000395461.3_Splice_Site_p.M201_splice|LAT_ENST00000566177.1_Splice_Site_p.M193_splice|LAT_ENST00000354453.4_Splice_Site_p.M184_splice	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	194					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				TTTCCACAGTGGAGTCCATTG	0.622													39	54	---	---	---	---					-	29000849	G	-	29000849	8	5	271	1	0	1	0	1	0	0	1	0	8697	1362	47	0	724	0	LAT	16	29000849	Splice_Site	DEL	G	TCGA-CV-6962-01A-11D-1912-08	5354448	29000849	61353904	112	48758											
HP	3240	broad.mit.edu	37	chr16	72094177	72094178	+	Frame_Shift_Del	DEL	TC	TC	-																															ctgctgaccacggctaaaaaTctcttcctgaaccattcaga																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:72094177_72094178delTC	ENST00000355906.5	+	7	667_668	c.609_610delTC	c.(607-612)aatcfs	p.NL203fs	HP_ENST00000570083.1_Frame_Shift_Del_p.NL144fs|HPR_ENST00000356967.5_Intron|HP_ENST00000565574.1_Frame_Shift_Del_p.NL144fs|HP_ENST00000398131.2_Frame_Shift_Del_p.NL144fs|HP_ENST00000562526.1_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	203	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CGGCTAAAAATCTCTTCCTGAA	0.465													43	16	---	---	---	---					-	72094178	TC	-	72094177	7	5	271	1	0	1	0	1	0	0	0	0	7377	1432	50	0	635	0	HP	16	72094177	Frame_Shift_Del	DEL	TC	TCGA-CV-6962-01A-11D-1912-08	43093328	72094177	18260576	113	48759											
TAF1C	9013	broad.mit.edu	37	chr16	84214963	84214963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcttcactccggtgcGgtcacccacggtcagcaccc	7	7	9	18	3	4	0	3	0	1	0	5	0	5	0	3	3	3	2	3	3	0	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:84214963G>A	ENST00000567759.1	-	10	1395	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	TAF1C_ENST00000566732.1_Missense_Mutation_p.R379C|TAF1C_ENST00000378541.4_Missense_Mutation_p.R405C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R312C|TAF1C_ENST00000341690.6_Missense_Mutation_p.R312C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R73C	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	405					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						ACTCCGGTGCGGTCACCCACG	0.667													15	4					0	0	0	0	A	84214963	G	A	84214963	3	1	271	1	0	0	0	0	1	0	0	0	15612	1116	39	1	1416	1	TAF1C	16	84214963	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	12120786	84214963	6139790	114	48760											
MYO1C	4641	broad.mit.edu	37	chr17	1386944	1386944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgacgccacggtaacGctccatatgctgccggctgt	8	8	12	13	4	0	1	0	1	0	0	1	2	1	1	3	2	4	5	3	2	3	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:1386944G>A	ENST00000359786.5	-	3	631	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	MYO1C_ENST00000575158.1_Missense_Mutation_p.R68C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R68C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R79C|MYO1C_ENST00000438665.2_Missense_Mutation_p.R84C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	103	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCACGGTAACGCTCCATATGC	0.627													6	13					0	0	0	0	A	1386944	G	A	1386944	3	1	271	1	0	0	0	0	1	0	0	0	10140	1087	38	1	3004	1	MYO1C	17	1386944	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08		1386944	79808266	115	48761											
ATP2A3	489	broad.mit.edu	37	chr17	3854894	3854894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgccacacgcccacaatgGcgttggccacgaggatcagc	9	5	11	16	3	1	0	1	0	0	0	1	2	1	1	4	3	2	1	4	3	1	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:3854894G>A	ENST00000309890.7	-	4	455	c.305C>T	c.(304-306)gCc>gTc	p.A102V	ATP2A3_ENST00000397043.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000359983.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000352011.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397035.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397039.1_5'UTR	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	102					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCCCACAATGGCGTTGGCCAC	0.687													10	12					0	0	0	0	A	3854894	G	A	3854894	3	1	271	1	0	0	0	0	1	0	0	0	1142	1203	42	4	2977	4	ATP2A3	17	3854894	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	2467950	3854894	77340316	116	48762											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:7578271T>C	ENST00000420246.2	-	6	710	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			38	8					0	0	0	0	C	7578271	T	C	7578271	3	2	271	1	0	0	0	0	1	0	0	0	16476	1464	51	5	716	5	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-CV-6962-01A-11D-1912-08	3723377	7578271	73616939	117	48763											
KCNJ12	3768	broad.mit.edu	37	chr17	21319078	21319078	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccatcgagacgcagAccaccatcggctacgggctg	8	8	10	15	4	2	2	0	0	2	2	5	3	2	2	3	2	1	3	3	2	1	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:21319078A>T	ENST00000583088.1	+	3	1319	c.424A>T	c.(424-426)Acc>Tcc	p.T142S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T142S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CGAGACGCAGACCACCATCGG	0.657										Prostate(3;0.18)			13	63					0	0	0	0	T	21319078	A	T	21319078	3	4	271	1	0	0	0	0	1	0	0	0	8099	275	10	5	426	5	KCNJ12	17	21319078	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	13740807	21319078	59876132	118	48764											
KSR1	8844	broad.mit.edu	37	chr17	25783823	25783823	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagctcatcgacatctccAtcggcagcctgcgcgggctg	8	7	12	14	4	2	1	1	0	1	1	5	2	2	1	2	2	3	3	2	2	1	0			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:25783823A>T	ENST00000319524.6	+	1	154	c.154A>T	c.(154-156)Atc>Ttc	p.I52F	KSR1_ENST00000509603.2_Missense_Mutation_p.I52F			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	50					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGACATCTCCATCGGCAGCCT	0.716													29	32					0	0	0	0	T	25783823	A	T	25783823	3	4	271	1	0	0	0	0	1	0	0	0	8634	232	8	5		5	KSR1	17	25783823	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	4464745	25783823	55411387	119	48765											
SLC6A4	6532	broad.mit.edu	37	chr17	28534763	28534763	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactcaccaggagaaacagaGggctgatggccacccagcag	14	3	12	12	0	1	3	1	1	0	2	1	4	1	3	3	3	3	2	3	3	2	0			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:28534763G>C	ENST00000401766.2	-	12	2149	c.1637C>G	c.(1636-1638)cCt>cGt	p.P546R	SLC6A4_ENST00000261707.3_Missense_Mutation_p.P546R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	546					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GAGAAACAGAGGGCTGATGGC	0.562													13	32					0	0	0	0	C	28534763	G	C	28534763	3	2	271	1	0	0	0	0	1	0	0	0	14774	1000	35	4	267	4	SLC6A4	17	28534763	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	2750940	28534763	52660447	120	48766											
C17orf75	64149	broad.mit.edu	37	chr17	30668273	30668273	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgccacttgggcttccGtcctcactgtcccctcgttg	2	15	9	15	2	1	0	1	0	0	0	5	0	4	0	5	1	1	2	5	1	0	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:30668273G>A	ENST00000577809.1	-	2	220	c.171C>T	c.(169-171)gaC>gaT	p.D57D	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Silent_p.D57D	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	57					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTGGGCTTCCGTCCTCACTGT	0.478													93	148					0	0	0	0	A	30668273	G	A	30668273	2	1	271	1	0	0	0	0	0	0	0	1	1896	1136	40	1		1	C17orf75	17	30668273	Silent	SNP	G	TCGA-CV-6962-01A-11D-1912-08	2133510	30668273	50526937	121	48767											
TMEM132E	124842	broad.mit.edu	37	chr17	32963160	32963160	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggcccagccctgggagCagccacaccatcctagccac	8	4	10	19	1	0	0	0	0	0	0	1	1	1	1	6	2	5	1	6	2	1	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:32963160C>G	ENST00000321639.5	+	9	2170	c.1842C>G	c.(1840-1842)agC>agG	p.S614R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	614						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCCTGGGAGCAGCCACACCA	0.632													7	20					0	0	0	0	G	32963160	C	G	32963160	3	3	271	1	0	0	0	0	1	0	0	0	16142	709	25	4	1876	4	TMEM132E	17	32963160	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	2294887	32963160	48232050	122	48768											
GGNBP2	79893	broad.mit.edu	37	chr17	34912940	34912940	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgacatggtatgcttaaGcaacaggatctaagtattgc	13	10	10	8	1	1	0	0	0	1	0	1	2	1	1	0	2	5	4	0	2	5	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:34912940G>C	ENST00000304718.4	+	4	508	c.192G>C	c.(190-192)aaG>aaC	p.K64N		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	64					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTATGCTTAAGCAACAGGATC	0.443													55	75					0	0	0	0	C	34912940	G	C	34912940	3	2	271	1	0	0	0	0	1	0	0	0	6410	962	34	4	202	4	GGNBP2	17	34912940	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	1949780	34912940	46282270	123	48769											
KRT32	3882	broad.mit.edu	37	chr17	39616390	39616390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgggggcagggtgagCaaggcatgccaacagtgcgt	8	5	18	10	1	0	1	0	1	0	0	0	1	0	1	2	5	4	3	2	5	2	0			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:39616390C>A	ENST00000225899.3	-	7	1422	c.1319G>T	c.(1318-1320)tGc>tTc	p.C440F		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	440	Tail.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GCAGGGTGAGCAAGGCATGCC	0.647													15	22					0.000422831	0.000445687	1	0	A	39616390	C	A	39616390	3	1	271	1	0	0	0	0	1	0	0	0	8520	710	25	4	31	4	KRT32	17	39616390	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	4703450	39616390	41578820	124	48770											
FAM134C	162427	broad.mit.edu	37	chr17	40734008	40734008	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaggcccctgacaaggcCagctgaatcataccctggga	10	6	13	12	0	1	2	1	2	0	0	1	4	1	4	4	4	2	1	4	4	3	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:40734008C>A	ENST00000309428.5	-	9	1283	c.1224G>T	c.(1222-1224)ctG>ctT	p.L408L	FAM134C_ENST00000585894.1_Silent_p.L311L|FAM134C_ENST00000543197.1_Silent_p.L213L	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	408						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CTGACAAGGCCAGCTGAATCA	0.622													27	47					2.79863e-10	3.15453e-10	1	0	A	40734008	C	A	40734008	2	1	271	1	0	0	0	0	0	0	0	1	5488	581	21	4		4	FAM134C	17	40734008	Silent	SNP	C	TCGA-CV-6962-01A-11D-1912-08	1117618	40734008	40461202	125	48771											
GRN	2896	broad.mit.edu	37	chr17	42429495	42429495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggactggagaagatgcctgCccgccgggcttccttatccc	6	9	12	14	2	0	2	0	0	0	2	2	4	2	3	5	3	2	1	5	3	2	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:42429495C>T	ENST00000053867.3	+	11	1354	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V	GRN_ENST00000589265.1_Missense_Mutation_p.A274V	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	431					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AAGATGCCTGCCCGCCGGGCT	0.667													55	57					0	0	0	0	T	42429495	C	T	42429495	3	4	271	1	0	0	0	0	1	0	0	0	6854	739	26	4	1330	4	GRN	17	42429495	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	1695487	42429495	38765715	126	48772											
CACNA1G	8913	broad.mit.edu	37	chr17	48699024	48699024	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctctctccctgtctagatcCctctagctgagatggaggct	6	13	9	13	0	4	2	0	1	4	2	7	4	5	3	2	2	1	2	2	2	2	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:48699024C>A	ENST00000354983.4	+	33	6199	c.5827C>A	c.(5827-5829)Cct>Act	p.P1943T	CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1966T|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P1977T|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1906T|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000515411.1_Intron	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1977					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGTCTAGATCCCTCTAGCTGA	0.562													13	28					9.31168e-06	9.9768e-06	1	0	A	48699024	C	A	48699024	3	1	271	1	0	0	0	0	1	0	0	0	2569	623	22	4	6334	4	CACNA1G	17	48699024	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	6269529	48699024	32496186	127	48773											
STXBP4	252983	broad.mit.edu	37	chr17	53120624	53120624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtgattcttcagaagcaGatgaaatggaaaggctcaag	14	10	11	6	0	3	4	2	2	1	2	3	5	3	5	0	2	1	2	0	2	4	3			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:53120624G>A	ENST00000376352.2	+	11	1090	c.883G>A	c.(883-885)Gat>Aat	p.D295N	STXBP4_ENST00000299341.4_Missense_Mutation_p.D220N|STXBP4_ENST00000405898.1_Missense_Mutation_p.D295N|STXBP4_ENST00000434978.2_Missense_Mutation_p.D295N|STXBP4_ENST00000398391.2_Missense_Mutation_p.D220N	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	295						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTCAGAAGCAGATGAAATGGA	0.313													5	9					0	0	0	0	A	53120624	G	A	53120624	3	1	271	1	0	0	0	0	1	0	0	0	15445	942	33	2	917	2	STXBP4	17	53120624	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	4421600	53120624	28074586	128	48774											
APOH	350	broad.mit.edu	37	chr17	64224252	64224252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atacgtaatctcttctcctgGctcatagaatgtttttaacg	10	16	6	9	2	3	1	1	0	2	1	5	1	3	1	1	1	2	3	1	1	5	7			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:64224252G>C	ENST00000205948.6	-	2	164	c.127C>G	c.(127-129)Cca>Gca	p.P43A		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	43	Sushi 1.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TCTTCTCCTGGCTCATAGAAT	0.483													76	97					0	0	0	0	C	64224252	G	C	64224252	3	2	271	1	0	0	0	0	1	0	0	0	806	1203	42	4	938	4	APOH	17	64224252	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	11103628	64224252	16970958	129	48775											
CD300E	342510	broad.mit.edu	37	chr17	72613588	72613588	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcacagagccggggccCttcagagacaaacagcctgg	11	4	12	14	1	2	2	2	0	0	2	2	3	2	2	4	3	3	0	4	3	1	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:72613588C>T	ENST00000392619.1	-	2	173	c.138G>A	c.(136-138)aaG>aaA	p.K46K	CD300E_ENST00000426295.2_Silent_p.K60K|CD300E_ENST00000328630.3_Silent_p.K19K	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	19	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCCGGGGCCCTTCAGAGACA	0.552													25	18					0	0	0	0	T	72613588	C	T	72613588	2	4	271	1	0	0	0	0	0	0	0	1	3027	680	24	4		4	CD300E	17	72613588	Silent	SNP	C	TCGA-CV-6962-01A-11D-1912-08	8389336	72613588	8581622	130	48776											
ADCYAP1	116	broad.mit.edu	37	chr18	909477	909478	+	Frame_Shift_Del	DEL	CG	CG	-																															ggcggcggcgcgggggacgaCgcggagccgctctccaagcg																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:909477_909478delCG	ENST00000579794.1	+	4	650_651	c.372_373delCG	c.(370-375)gacgfs	p.DA124fs	ADCYAP1_ENST00000450565.3_Frame_Shift_Del_p.DA124fs	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	124					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGGGGGACGACGCGGAGCCGCT	0.668													67	93	---	---	---	---					-	909478	CG	-	909477	7	5	271	1	0	1	0	1	0	0	0	0	302	535	19	0	386	0	ADCYAP1	18	909477	Frame_Shift_Del	DEL	CG	TCGA-CV-6962-01A-11D-1912-08		909477	77167771	131	48777											
ABHD3	171586	broad.mit.edu	37	chr18	19239184	19239191	+	Frame_Shift_Del	DEL	GTTCAGTG	GTTCAGTG	-																															tagtaattaaaaagtagccaGttcagtggtttttccaatga																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:19239184_19239191delGTTCAGTG	ENST00000578270.1	-	5	1137_1144	c.197_204delCACTGAAC	c.(196-204)cfs	p.PLN66fs	ABHD3_ENST00000289119.2_Frame_Shift_Del_p.PLN261fs|ABHD3_ENST00000580981.1_Frame_Shift_Del_p.PLN208fs			Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	261						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						AAAGTAGCCAGTTCAGTGGTTTTTCCAA	0.447													24	92	---	---	---	---					-	19239191	GTTCAGTG	-	19239184	7	5	271	1	0	1	0	1	0	0	0	0	83	1020	36	0	456	0	ABHD3	18	19239184	Frame_Shift_Del	DEL	GTTCAGTG	TCGA-CV-6962-01A-11D-1912-08	18329707	19239184	58838064	132	48778											
TTC39C	125488	broad.mit.edu	37	chr18	21703803	21703803	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatggtttcttacagtttgtCagggagccactggtgatgtg	7	15	13	6	0	2	1	1	1	1	0	2	2	2	2	1	3	2	2	1	3	2	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:21703803C>T	ENST00000540918.2	+	4	521	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	TTC39C_ENST00000317571.3_Nonsense_Mutation_p.Q398*|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.Q337*			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	398							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TACAGTTTGTCAGGGAGCCAC	0.368													12	22					0	0	0	0	T	21703803	C	T	21703803	4	4	271	1	0	0	0	0	0	1	0	0	16805	827	29	2	1226	2	TTC39C	18	21703803	Nonsense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	2464619	21703803	56373445	133	48779											
SETBP1	26040	broad.mit.edu	37	chr18	42643322	42643322	+	Frame_Shift_Del	DEL	A	A	-																															aatgcatcgacctgcccagcAaaagaggccagaagcccagc																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:42643322delA	ENST00000282030.5	+	6	4746	c.4450delA	c.(4450-4452)aafs	p.K1484fs		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1484						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCTGCCCAGCAAAAGAGGCCA	0.637									Schinzel-Giedion syndrome				2	4	---	---	---	---					-	42643322	A	-	42643322	7	5	271	1	0	1	0	1	0	0	0	0	14216	131	5	0	4661	0	SETBP1	18	42643322	Frame_Shift_Del	DEL	A	TCGA-CV-6962-01A-11D-1912-08	20939519	42643322	35433926	134	48780											
ARID3A	1820	broad.mit.edu	37	chr19	971943	971943	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaaaggaggcggcggcGgcggcggcagcagcagcaac	11	0	17	13	5	0	0	0	0	0	0	0	1	0	1	1	7	5	4	1	7	3	0			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:971943G>C	ENST00000263620.3	+	9	1987	c.1660G>C	c.(1660-1662)Ggc>Cgc	p.G554R		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	554	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		Aggcggcggcggcggcggcag	0.667													16	47					0	0	0	0	C	971943	G	C	971943	3	2	271	1	0	0	0	0	1	0	0	0	918	1116	39	3	1690	3	ARID3A	19	971943	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08		971943	58157040	135	48781											
S1PR4	8698	broad.mit.edu	37	chr19	3179935	3179935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccagcatctccagcgtgcGgagcatctgaagttgcagtc	8	9	12	12	2	2	1	0	1	2	0	5	2	3	2	2	1	5	4	2	1	1	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:3179935G>A	ENST00000246115.3	+	1	1200	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	382					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TCCAGCGTGCGGAGCATCTGA	0.652													50	55					0	0	0	0	A	3179935	G	A	3179935	3	1	271	1	0	0	0	0	1	0	0	0	13881	1116	39	1	1147	1	S1PR4	19	3179935	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	2207992	3179935	55949048	136	48782											
SH3GL1	6455	broad.mit.edu	37	chr19	4365608	4365608	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccgtgttgagcatggtcaGcttagcccgcgaggctggga	7	8	15	11	3	1	1	1	1	0	0	1	3	1	2	2	3	3	4	2	3	1	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:4365608G>A	ENST00000269886.3	-	4	380	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	SH3GL1_ENST00000598564.1_Silent_p.L68L|SH3GL1_ENST00000417295.2_Intron	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	68	BAR.|Required for dimerization upon membrane association (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AGCATGGTCAGCTTAGCCCGC	0.662			T	MLL	AL								40	47					0	0	0	0	A	4365608	G	A	4365608	2	1	271	1	0	0	0	0	0	0	0	1	14338	962	34	4		4	SH3GL1	19	4365608	Silent	SNP	G	TCGA-CV-6962-01A-11D-1912-08	1185673	4365608	54763375	137	48783											
HDGFRP2	84717	broad.mit.edu	37	chr19	4498321	4498321	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagccctccgtggaggagaAgctgcagaagctgcacagtg	11	5	15	10	1	0	3	0	0	0	3	1	5	1	4	2	2	5	4	2	2	2	0			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:4498321A>G	ENST00000301284.4	+	12	1485	c.1421A>G	c.(1420-1422)aAg>aGg	p.K474R	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.K474R	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		474					transcription, DNA-dependent	nucleus	DNA binding|protein binding										GTGGAGGAGAAGCTGCAGAAG	0.647													25	19					0	0	0	0	G	4498321	A	G	4498321	3	3	271	1	0	0	0	0	1	0	0	0	7070	72	3	5	1467	5	HDGFRP2	19	4498321	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	132713	4498321	54630662	138	48784											
DOCK6	57572	broad.mit.edu	37	chr19	11323947	11323947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccacagtgtcgtaggaGcctcaggcacaggtcggcac	8	6	14	13	2	1	0	1	0	0	0	3	1	1	1	2	4	2	4	2	4	1	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:11323947G>A	ENST00000294618.7	-	35	4407	c.4396C>T	c.(4396-4398)Ctc>Ttc	p.L1466F	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.L805F	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1466					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TGTCGTAGGAGCCTCAGGCAC	0.652													12	30					0	0	0	0	A	11323947	G	A	11323947	3	1	271	1	0	0	0	0	1	0	0	0	4727	971	34	4	1803	4	DOCK6	19	11323947	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08	6825626	11323947	47805036	139	48785											
ZNF440	126070	broad.mit.edu	37	chr19	11943141	11943141	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccctcattccagttcccttCgatatcatgaaaggactcac	10	12	5	14	1	3	1	3	1	0	0	7	3	6	2	3	1	0	1	3	1	2	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:11943141C>T	ENST00000304060.5	+	4	1314	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGTTCCCTTCGATATCATGA	0.433													27	22					0	0	0	0	T	11943141	C	T	11943141	4	4	271	1	0	0	0	0	0	1	0	0	18008	876	31	1	1164	1	ZNF440	19	11943141	Nonsense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	619194	11943141	47185842	140	48786											
ZNF85	7639	broad.mit.edu	37	chr19	21132175	21132175	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatactggagagaaaccCtacaaatgtaaagaatgtgg	17	9	9	6	0	1	2	1	0	0	2	1	4	1	3	1	2	3	1	1	2	7	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:21132175C>A	ENST00000601023.1	+	2	1324	c.678C>A	c.(676-678)ccC>ccA	p.P226P	ZNF85_ENST00000345030.6_Silent_p.P252P|ZNF85_ENST00000328178.8_Silent_p.P285P			Q03923	ZNF85_HUMAN	zinc finger protein 85	285						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAGAAACCCTACAAATGTA	0.353													13	15					0.00185496	0.00193431	1	0	A	21132175	C	A	21132175	2	1	271	1	0	0	0	0	0	0	0	1	18286	668	24	4		4	ZNF85	19	21132175	Silent	SNP	C	TCGA-CV-6962-01A-11D-1912-08	9189034	21132175	37996808	141	48787											
ZNF492	57615	broad.mit.edu	37	chr19	22836811	22836811	+	Frame_Shift_Del	DEL	C	C	-																															gacatgagatggtagctgaaCccccaggtaggtgagagtga																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:22836811delC	ENST00000456783.2	+	3	368	c.124delC	c.(124-126)ccfs	p.P43fs		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGTAGCTGAACCCCCAGGTAG	0.413													67	62	---	---	---	---					-	22836811	C	-	22836811	7	5	271	1	0	1	0	1	0	0	0	0	18038	507	18	0	130	0	ZNF492	19	22836811	Frame_Shift_Del	DEL	C	TCGA-CV-6962-01A-11D-1912-08	1704636	22836811	36292172	142	48788											
TMEM147	10430	broad.mit.edu	37	chr19	36037859	36037859	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctcagctgcattcccctAtgggtcggagcccggggcat	5	10	12	14	2	1	0	1	0	0	0	4	1	3	1	4	4	3	3	4	4	1	3	rs35486099		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:36037859A>G	ENST00000392204.2	+	4	538	c.210A>G	c.(208-210)ctA>ctG	p.L70L	TMEM147_ENST00000392205.1_Silent_p.L119L|TMEM147_ENST00000222284.5_Silent_p.L119L	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	119						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCATTCCCCTATGGGTCGGAG	0.562													55	57					0	0	0	0	G	36037859	A	G	36037859	2	3	271	1	0	0	0	0	0	0	0	1	16155	436	16	5		5	TMEM147	19	36037859	Silent	SNP	A	TCGA-CV-6962-01A-11D-1912-08	13201048	36037859	23091124	143	48789											
RYR1	6261	broad.mit.edu	37	chr19	39013683	39013683	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagggcgcagtggctgacGgagccgaatcccagcgcgga	8	3	16	14	5	0	1	0	1	0	0	1	4	1	3	3	4	2	2	3	4	1	0			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:39013683G>A	ENST00000355481.4	+	68	10406	c.10275G>A	c.(10273-10275)acG>acA	p.T3425T	RYR1_ENST00000360985.3_Silent_p.T3425T|RYR1_ENST00000359596.3_Silent_p.T3425T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3425					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGTGGCTGACGGAGCCGAATC	0.662													12	8					0	0	0	0	A	39013683	G	A	39013683	2	1	271	1	0	0	0	0	0	0	0	1	13853	1103	39	1		1	RYR1	19	39013683	Silent	SNP	G	TCGA-CV-6962-01A-11D-1912-08	2975824	39013683	20115300	144	48790											
RINL	126432	broad.mit.edu	37	chr19	39361466	39361466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgaatggtgagcacgtcCtcagggccttcctcttcagg	7	10	12	12	2	3	2	2	2	1	0	5	2	5	2	3	3	1	1	3	3	1	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:39361466C>T	ENST00000340740.3	-	8	813	c.426G>A	c.(424-426)gaG>gaA	p.E142E	CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000602238.1_5'UTR|RINL_ENST00000598904.1_Silent_p.E142E|RINL_ENST00000591812.1_Silent_p.E256E	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	142							GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TGAGCACGTCCTCAGGGCCTT	0.617													29	82					0	0	0	0	T	39361466	C	T	39361466	2	4	271	1	0	0	0	0	0	0	0	1	13460	680	24	4		4	RINL	19	39361466	Silent	SNP	C	TCGA-CV-6962-01A-11D-1912-08	347783	39361466	19767517	145	48791											
ADCK4	79934	broad.mit.edu	37	chr19	41206235	41206235	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggttccgcaggtcctggcTtaggccctggcactggtcca	4	10	13	14	1	0	0	0	0	0	0	3	0	3	0	4	6	0	4	4	6	1	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:41206235T>G	ENST00000324464.3	-	11	1316	c.1015A>C	c.(1015-1017)Agc>Cgc	p.S339R	ADCK4_ENST00000243583.6_Missense_Mutation_p.S298R|ADCK4_ENST00000450541.1_Missense_Mutation_p.S298R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	339	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			AGGTCCTGGCTTAGGCCCTGG	0.672													17	47					0	0	0	0	G	41206235	T	G	41206235	3	3	271	1	0	0	0	0	1	0	0	0	290	1609	56	5	639	5	ADCK4	19	41206235	Missense_Mutation	SNP	T	TCGA-CV-6962-01A-11D-1912-08	1844769	41206235	17922748	146	48792											
ZNF404	342908	broad.mit.edu	37	chr19	44377859	44377881	+	Frame_Shift_Del	DEL	TACAAATGCTTTTCCACATTCAT	TACAAATGCTTTTCCACATTCAT	-																															ctaataaaatgctggaaaacTacaaatgcttttccacattc																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:44377859_44377881delTACAAATGCTTTTCCACATTCAT	ENST00000587539.1	-	3	484_506	c.485_507delATGAATGTGGAAAAGCATTTGTA	c.(484-507)afs	p.NECGKAFV162fs	ZNF404_ENST00000324394.6_Frame_Shift_Del_p.NECGKAFV160fs	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				GCTGGAAAACTACAAATGCTTTTCCACATTCATTACATTCATA	0.35													22	54	---	---	---	---					-	44377881	TACAAATGCTTTTCCACATTCAT	-	44377859	7	5	271	1	0	1	0	1	0	0	0	0	17981	1509	53	0	1155	0	ZNF404	19	44377859	Frame_Shift_Del	DEL	TACAAATGCTTTTCCACATTCAT	TCGA-CV-6962-01A-11D-1912-08	3171624	44377859	14751124	147	48793											
ZNF347	84671	broad.mit.edu	37	chr19	53644453	53644453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctttgccgcactcattaCacatataaggcttcactcca	11	11	6	13	1	2	0	2	0	0	0	3	0	3	0	2	2	2	3	2	2	3	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:53644453C>T	ENST00000452676.2	-	5	2057	c.1631G>A	c.(1630-1632)tGt>tAt	p.C544Y	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.C544Y|ZNF347_ENST00000334197.7_Missense_Mutation_p.C543Y	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCACTCATTACACATATAAGG	0.398													60	51					0	0	0	0	T	53644453	C	T	53644453	3	4	271	1	0	0	0	0	1	0	0	0	17956	478	17	4	895	4	ZNF347	19	53644453	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	9266594	53644453	5484530	148	48794											
LILRA6	79168	broad.mit.edu	37	chr19	54746172	54746173	+	Frame_Shift_Ins	INS	-	-	T																															ggctcagcccagagggtgggINStttggggaagggccctagat																										TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:54746172_54746173insT	ENST00000440558.2	-	3	132_133	c.84_85insA	c.(82-87)aaccacfs	p.NH28fs	LILRA6_ENST00000396365.2_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000270464.5_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000419410.2_Frame_Shift_Ins_p.NH28fs|LILRB3_ENST00000407860.2_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000245621.5_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000391735.3_Frame_Shift_Ins_p.NH28fs					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGAGGGTGGGTTTGGGGAAGG	0.619													23	55	---	---	---	---					T	54746173	-	T	54746172	7	5	271	1	0	1	1	0	0	0	0	0	8843	1261	44	0	1384	0	LILRA6	19	54746172	Frame_Shift_Ins	INS	-	TCGA-CV-6962-01A-11D-1912-08	1101719	54746172	4382811	149	48795											
UBE2M	9040	broad.mit.edu	37	chr19	59068277	59068277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttaaaactgaacacaaaCttcccactcttgtagaagcc	15	9	4	13	0	1	2	0	1	1	1	2	2	2	2	3	0	4	1	3	0	6	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:59068277C>T	ENST00000253023.3	-	3	803	c.225G>A	c.(223-225)aaG>aaA	p.K75K		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	75					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGAACACAAACTTCCCACTCT	0.567													25	10					0	0	0	0	T	59068277	C	T	59068277	2	4	271	1	0	0	0	0	0	0	0	1	16961	564	20	4		4	UBE2M	19	59068277	Silent	SNP	C	TCGA-CV-6962-01A-11D-1912-08	4322105	59068277	60706	150	48796											
C20orf26	26074	broad.mit.edu	37	chr20	20177278	20177278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacttcagtcaccaccagcGcgaagaacacgggcacatgc	12	5	9	15	3	2	1	2	0	0	1	2	2	2	1	2	1	4	1	2	1	3	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr20:20177278G>A	ENST00000245957.5	+	16	1731	c.1655G>A	c.(1654-1656)cGc>cAc	p.R552H	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	552										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CACCACCAGCGCGAAGAACAC	0.463													42	80					0	0	0	0	A	20177278	G	A	20177278	3	1	271	1	0	0	0	0	1	0	0	0	2126	1087	38	1	1745	1	C20orf26	20	20177278	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08		20177278	42848242	151	48797											
NEURL2	140825	broad.mit.edu	37	chr20	44519288	44519288	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggttgtggtggcgcgtgaTggcgaagacccaggtgtggc	5	8	20	8	4	0	2	0	1	0	1	0	3	0	2	1	6	0	1	1	6	1	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr20:44519288T>C	ENST00000372518.4	-	1	638	c.343A>G	c.(343-345)Atc>Gtc	p.I115V		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	115	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGGCGCGTGATGGCGAAGACC	0.706													46	9					0	0	0	0	C	44519288	T	C	44519288	3	2	271	1	0	0	0	0	1	0	0	0	10416	1464	51	5	522	5	NEURL2	20	44519288	Missense_Mutation	SNP	T	TCGA-CV-6962-01A-11D-1912-08	24342010	44519288	18506232	152	48798											
APCDD1L	164284	broad.mit.edu	37	chr20	57045686	57045686	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtggagatccaaggtccaTtaaggcgtggaggcaggatc	10	8	15	8	1	0	1	0	0	0	1	3	4	2	3	2	6	0	1	2	6	2	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr20:57045686T>G	ENST00000371149.3	-	2	397	c.167A>C	c.(166-168)aAt>aCt	p.N56T	APCDD1L_ENST00000439429.1_Missense_Mutation_p.N67T	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	56						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CCAAGGTCCATTAAGGCGTGG	0.617													7	10					0	0	0	0	G	57045686	T	G	57045686	3	3	271	1	0	0	0	0	1	0	0	0	767	1493	52	5	1350	5	APCDD1L	20	57045686	Missense_Mutation	SNP	T	TCGA-CV-6962-01A-11D-1912-08	12526398	57045686	5979834	153	48799											
TPTE	7179	broad.mit.edu	37	chr21	10942773	10942773	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgccttttgttttctgaaAcctgacagtttaaaatcgtc	10	16	6	9	2	1	2	0	2	1	0	4	2	1	2	2	0	1	2	2	0	3	6			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr21:10942773A>G	ENST00000298232.7	-	12	981	c.612_splice	c.e12-1	p.V205_splice	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.V185_splice|TPTE_ENST00000361285.4_Splice_Site_p.V223_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	223					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTTTCTGAAACCTGACAGTT	0.348													51	289					0	0	0	0	G	10942773	A	G	10942773	5	3	271	1	0	0	0	0	0	0	1	0	16525	57	2	5	1035	5	TPTE	21	10942773	Splice_Site	SNP	A	TCGA-CV-6962-01A-11D-1912-08		10942773	37187122	154	48800											
BAGE2	85319	broad.mit.edu	37	chr21	11098870	11098870	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagcctccaactccccCttctcctggtcctctaagcc	5	10	5	21	0	2	0	0	0	2	0	7	0	6	0	8	1	3	1	8	1	2	2			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr21:11098870C>A	ENST00000470054.1	-	0	55									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaactcccccttctcctggt	0.622													11	14					5.50884e-06	5.93493e-06	1	0	A	11098870	C	A	11098870	1	1	271	0	1	0	0	0	0	0	0	0	1296	696	24	4		4	BAGE2	21	11098870	RNA	SNP	C	TCGA-CV-6962-01A-11D-1912-08	156097	11098870	37031025	155	48801											
NCAM2	4685	broad.mit.edu	37	chr21	22881352	22881352	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcaaaagtaaagaacTcgaagaaggaaaagctgcat	19	5	11	6	1	0	2	0	0	0	2	1	4	0	3	0	2	3	4	0	2	9	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr21:22881352T>A	ENST00000400546.1	+	16	2507	c.2258T>A	c.(2257-2259)cTc>cAc	p.L753H	NCAM2_ENST00000284894.7_Missense_Mutation_p.L611H	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	753					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGTAAAGAACTCGAAGAAGGA	0.463													30	31					0	0	0	0	A	22881352	T	A	22881352	3	1	271	1	0	0	0	0	1	0	0	0	10273	1551	54	5	2320	5	NCAM2	21	22881352	Missense_Mutation	SNP	T	TCGA-CV-6962-01A-11D-1912-08	11782482	22881352	25248543	156	48802											
USP16	10600	broad.mit.edu	37	chr21	30419482	30419482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatccagaaactgctttCtgtactcttgcaaacaggga	13	10	9	9	0	2	2	0	0	2	2	3	4	3	3	1	1	5	3	1	1	4	3			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr21:30419482C>A	ENST00000334352.4	+	15	2082	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	USP16_ENST00000535828.1_Missense_Mutation_p.F246L|USP16_ENST00000399976.2_Missense_Mutation_p.F617L|USP16_ENST00000399975.3_Missense_Mutation_p.F616L	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	617					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AAACTGCTTTCTGTACTCTTG	0.363													62	13					9.4991e-31	1.22671e-30	1	0	A	30419482	C	A	30419482	3	1	271	1	0	0	0	0	1	0	0	0	17143	912	32	2	1901	2	USP16	21	30419482	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	7538130	30419482	17710413	157	48803											
TNRC6B	23112	broad.mit.edu	37	chr22	40658079	40658079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcctgcatgctccttggggGtggggcagggcctcctccct	2	10	15	14	0	0	0	0	0	0	0	4	0	4	0	5	5	2	3	5	5	0	1			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr22:40658079G>T	ENST00000454349.2	+	4	570	c.359G>T	c.(358-360)gGt>gTt	p.G120V	TNRC6B_ENST00000402203.1_Missense_Mutation_p.G156V|TNRC6B_ENST00000301923.9_Missense_Mutation_p.G156V|TNRC6B_ENST00000335727.8_Missense_Mutation_p.G120V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	120					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CTCCTTGGGGGTGGGGCAGGG	0.632													8	1					0.00448238	0.00464928	1	0	T	40658079	G	T	40658079	3	4	271	1	0	0	0	0	1	0	0	0	16435	1261	44	4	494	4	TNRC6B	22	40658079	Missense_Mutation	SNP	G	TCGA-CV-6962-01A-11D-1912-08		40658079	10646487	158	48804											
CXorf22	170063	broad.mit.edu	37	chrX	35966561	35966561	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagccaagaattgtagatgaAgaggcaatgtgagtatatac	16	9	11	5	0	0	5	0	2	0	3	0	5	0	5	1	1	2	3	1	1	8	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:35966561A>G	ENST00000297866.5	+	4	714	c.648A>G	c.(646-648)gaA>gaG	p.E216E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	216										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTGTAGATGAAGAGGCAATGT	0.373													37	9					0	0	0	0	G	35966561	A	G	35966561	2	3	271	1	0	0	0	0	0	0	0	1	4134	69	3	5		5	CXorf22	23	35966561	Silent	SNP	A	TCGA-CV-6962-01A-11D-1912-08		35966561	119303999	159	48805											
ZNF157	7712	broad.mit.edu	37	chrX	47271931	47271931	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaggctttgttagacgtaaAagaacacccagaggagataa	17	7	10	7	1	0	4	0	0	0	4	0	5	0	4	1	2	1	3	1	2	5	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:47271931A>C	ENST00000377073.3	+	4	545	c.459A>C	c.(457-459)aaA>aaC	p.K153N		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	153					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TTAGACGTAAAAGAACACCCA	0.383													21	5					0	0	0	0	C	47271931	A	C	47271931	3	2	271	1	0	0	0	0	1	0	0	0	17832	11	1	5	473	5	ZNF157	23	47271931	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	11305370	47271931	107998629	160	48806											
FOXR2	139628	broad.mit.edu	37	chrX	55650824	55650824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcacccgacagcatttccCctttttctggacagctccgg	6	13	7	15	2	2	0	1	0	1	0	4	2	4	1	4	2	2	2	4	2	0	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:55650824C>T	ENST00000339140.3	+	1	992	c.680C>T	c.(679-681)cCc>cTc	p.P227L		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	227					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CAGCATTTCCCCTTTTTCTGG	0.498													52	7					0	0	0	0	T	55650824	C	T	55650824	3	4	271	1	0	0	0	0	1	0	0	0	6079	623	22	4	682	4	FOXR2	23	55650824	Missense_Mutation	SNP	C	TCGA-CV-6962-01A-11D-1912-08	8378893	55650824	99619736	161	48807											
ARMCX5	64860	broad.mit.edu	37	chrX	101857639	101857639	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctggttctggcctgaagaAgagacctctcttcaagttta	9	13	9	10	0	3	3	1	1	2	2	5	4	4	3	3	2	0	2	3	2	4	4			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:101857639A>T	ENST00000604957.1	+	1	3192	c.570A>T	c.(568-570)gaA>gaT	p.E190D	RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.E190D|ARMCX5_ENST00000372742.1_Missense_Mutation_p.E190D|ARMCX5_ENST00000537008.1_Missense_Mutation_p.E190D|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.E190D|ARMCX5_ENST00000246174.2_Missense_Mutation_p.E190D	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	190							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GGCCTGAAGAAGAGACCTCTC	0.448													74	12					0	0	0	0	T	101857639	A	T	101857639	3	4	271	1	0	0	0	0	1	0	0	0	966	69	3	5	572	5	ARMCX5	23	101857639	Missense_Mutation	SNP	A	TCGA-CV-6962-01A-11D-1912-08	46206815	101857639	53412921	162	48808											
SPANXD	64648	broad.mit.edu	37	chrX	140785697	140785697	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggttgattctgttcttTcgggcgtggtcattcaccag	5	14	14	8	2	4	1	2	1	2	0	5	1	4	1	1	4	0	2	1	4	0	5			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:140785697T>C	ENST00000370515.3	-	2	552	c.219A>G	c.(217-219)cgA>cgG	p.R73R		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TTCTGTTCTTTCGGGCGTGGT	0.433													178	49					0	0	0	0	C	140785697	T	C	140785697	2	2	271	1	0	0	0	0	0	0	0	1	15078	1770	62	5		5	SPANXD	23	140785697	Silent	SNP	T	TCGA-CV-6962-01A-11D-1912-08	38928058	140785697	14484863	163	48809											
C1orf127	148345	broad.mit.edu	37	chr1	11017770	11017770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggctggcgtcttcaagaGaagccaccagctcccctcga	9	7	10	15	2	3	1	2	0	1	1	5	3	4	1	4	2	2	2	4	2	2	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:11017770G>A	ENST00000377004.4	-	7	595	c.596C>T	c.(595-597)tCt>tTt	p.S199F	C1orf127_ENST00000377008.4_Missense_Mutation_p.S50F	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	50										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GTCTTCAAGAGAAGCCACCAG	0.577													13	106					0	0	0	0	A	11017770	G	A	11017770	3	1	272	1	0	0	0	0	1	0	0	0	2013	942	33	2	1899	2	C1orf127	1	11017770	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08		11017770	238232851	1	48810											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887265	12887265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacatccatgtgggagagaaCgagcttctgaagattcctca	12	9	11	9	1	2	3	1	1	1	2	4	7	4	4	2	1	2	1	2	1	2	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:12887265C>T	ENST00000535591.1	-	3	787	c.592G>A	c.(592-594)Gtt>Att	p.V198I		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	198										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGGGAGAGAACGAGCTTCTGA	0.517													12	458					0	0	0	0	T	12887265	C	T	12887265	3	4	272	1	0	0	0	0	1	0	0	0	12503	536	19	1	726	1	PRAMEF11	1	12887265	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	1869495	12887265	236363356	2	48811											
AKR7A2	8574	broad.mit.edu	37	chr1	19632584	19632584	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgctggcgccatatgcGgcctgcagggccttctccac	4	7	15	15	3	1	0	0	0	1	0	2	0	1	0	4	5	2	2	4	5	1	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:19632584G>A	ENST00000235835.3	-	6	867	c.846C>T	c.(844-846)gcC>gcT	p.A282A		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	282					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	p.A282A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCATATGCGGCCTGCAGGG	0.632													10	66					0	0	0	0	A	19632584	G	A	19632584	2	1	272	1	0	0	0	0	0	0	0	1	475	1103	39	1		1	AKR7A2	1	19632584	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	6745319	19632584	229618037	3	48812											
NBPF3	84224	broad.mit.edu	37	chr1	21800026	21800026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccaagtcgactcaactctCattgactcatcctctcatga	11	11	5	14	1	4	2	4	2	2	0	8	4	5	2	2	0	1	0	2	0	2	1	rs138236134		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:21800026C>T	ENST00000318220.6	+	10	1768	c.720C>T	c.(718-720)ctC>ctT	p.L240L	NBPF3_ENST00000342104.5_Silent_p.L296L|NBPF3_ENST00000454000.2_Silent_p.L226L|NBPF3_ENST00000318249.5_Silent_p.L296L			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	296	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACTCAACTCTCATTGACTCAT	0.463													31	222					0	0	0	0	T	21800026	C	T	21800026	2	4	272	1	0	0	0	0	0	0	0	1	10267	813	29	2		2	NBPF3	1	21800026	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08	2167442	21800026	227450595	4	48813											
GPR3	2827	broad.mit.edu	37	chr1	27721255	27721255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgctgctgctgttcctcttCcaagatccccttccgatccc	4	13	6	18	1	1	1	0	0	1	1	6	2	6	1	6	0	3	4	6	0	1	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:27721255C>T	ENST00000374024.3	+	2	1052	c.953C>T	c.(952-954)tCc>tTc	p.S318F		NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	318					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		TGTTCCTCTTCCAAGATCCCC	0.527													26	156					0	0	0	0	T	27721255	C	T	27721255	3	4	272	1	0	0	0	0	1	0	0	0	6735	855	30	2	955	2	GPR3	1	27721255	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	5921229	27721255	221529366	5	48814											
HIVEP3	59269	broad.mit.edu	37	chr1	42045932	42045932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcagggtgagggaggggagGaatttcctttgtgtcagatg	8	11	18	4	0	1	2	1	1	0	1	2	5	2	5	1	5	1	1	1	5	1	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:42045932G>A	ENST00000372584.1	-	3	5551	c.4537C>T	c.(4537-4539)Cct>Tct	p.P1513S	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1513S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1513S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1513S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1513					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)				GGGAGGGGAGGAATTTCCTTT	0.557													6	57					0	0	0	0	A	42045932	G	A	42045932	3	1	272	1	0	0	0	0	1	0	0	0	7238	1174	41	2	2707	2	HIVEP3	1	42045932	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	14324677	42045932	207204689	6	48815											
IPO13	9670	broad.mit.edu	37	chr1	44424510	44424510	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagtcatcatgaggatgaTcatgaaggccctgagcttcg	11	10	11	9	1	4	4	4	4	0	0	5	5	4	5	1	2	1	1	1	2	1	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:44424510T>C	ENST00000372343.3	+	11	2639	c.1977T>C	c.(1975-1977)gaT>gaC	p.D659D		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	659					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATGAGGATGATCATGAAGGCC	0.562													11	78					0	0	0	0	C	44424510	T	C	44424510	2	2	272	1	0	0	0	0	0	0	0	1	7847	1432	50	5		5	IPO13	1	44424510	Silent	SNP	T	TCGA-CV-7089-01A-11D-2012-08	2378578	44424510	204826111	7	48816											
ZNF644	84146	broad.mit.edu	37	chr1	91404992	91404992	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtttagttaatgttttaGtgctatcactatctacaggt	9	19	8	5	0	2	0	1	0	1	0	2	0	2	0	0	1	2	5	0	1	6	9			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:91404992G>C	ENST00000370440.1	-	3	2136	c.1919C>G	c.(1918-1920)aCt>aGt	p.T640S	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.T640S|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TAATGTTTTAGTGCTATCACT	0.348													3	112					0	0	0	0	C	91404992	G	C	91404992	3	2	272	1	0	0	0	0	1	0	0	0	18155	1029	36	4	2080	4	ZNF644	1	91404992	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	46980482	91404992	157845629	8	48817											
COL11A1	1301	broad.mit.edu	37	chr1	103455092	103455092	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgtcaccttttagaccCatgtcacctttgaatcctgg	8	14	6	13	0	3	2	2	1	1	1	4	2	4	2	4	1	0	0	4	1	2	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:103455092C>G	ENST00000358392.2	-	29	2729	c.2412G>C	c.(2410-2412)atG>atC	p.M804I	COL11A1_ENST00000512756.1_Missense_Mutation_p.M676I|COL11A1_ENST00000370096.3_Missense_Mutation_p.M792I|COL11A1_ENST00000353414.4_Missense_Mutation_p.M753I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	792	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTTAGACCCATGTCACCTT	0.289													4	55					0	0	0	0	G	103455092	C	G	103455092	3	3	272	1	0	0	0	0	1	0	0	0	3697	594	21	4	3200	4	COL11A1	1	103455092	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	12050100	103455092	145795529	9	48818											
PSRC1	84722	broad.mit.edu	37	chr1	109824269	109824269	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttggagggcctctttccaGatgtagcccggagagccctg	6	10	14	11	1	1	2	0	0	1	2	2	4	2	3	4	3	2	2	4	3	1	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:109824269G>C	ENST00000438534.2	-	4	629	c.491C>G	c.(490-492)tCt>tGt	p.S164C	PSRC1_ENST00000409267.1_Missense_Mutation_p.S164C|PSRC1_ENST00000409138.2_Missense_Mutation_p.S164C|PSRC1_ENST00000369907.3_Missense_Mutation_p.S164C|PSRC1_ENST00000369903.2_Missense_Mutation_p.S164C|PSRC1_ENST00000369904.3_Missense_Mutation_p.S164C|PSRC1_ENST00000369909.2_Missense_Mutation_p.S164C	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	164	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CCTCTTTCCAGATGTAGCCCG	0.577													18	84					0	0	0	0	C	109824269	G	C	109824269	3	2	272	1	0	0	0	0	1	0	0	0	12798	942	33	2	591	2	PSRC1	1	109824269	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	6369177	109824269	139426352	10	48819											
MOV10	4343	broad.mit.edu	37	chr1	113238852	113238852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaataccgggtcttaattaCcaccctcatcactgccggca	10	9	8	14	2	3	0	2	0	1	0	3	1	3	1	4	3	3	1	4	3	4	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:113238852C>T	ENST00000369644.1	+	13	2723	c.1694C>T	c.(1693-1695)aCc>aTc	p.T565I	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.T621I|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.T621I|MOV10_ENST00000357443.2_Missense_Mutation_p.T621I			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	621					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GTCTTAATTACCACCCTCATC	0.532													5	52					0	0	0	0	T	113238852	C	T	113238852	3	4	272	1	0	0	0	0	1	0	0	0	9788	507	18	4	1904	4	MOV10	1	113238852	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	3414583	113238852	136011769	11	48820											
NBPF9	400818	broad.mit.edu	37	chr1	144816648	144816648	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggctcatcctctcatgttGaacgggaagatgctgtacac	9	12	10	10	1	2	2	2	1	1	1	4	3	3	3	1	2	3	4	1	2	3	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:144816648G>C	ENST00000440491.2	+	5	781	c.781G>C	c.(781-783)Gaa>Caa	p.E261Q	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.E261Q	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						CTCTCATGTTGAACGGGAAGA	0.458													39	275					0	0	0	0	C	144816648	G	C	144816648	3	2	272	1	0	0	0	0	1	0	0	0	10269	1291	45	2	1591	2	NBPF9	1	144816648	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	31577796	144816648	104433973	12	48821											
CTSS	1520	broad.mit.edu	37	chr1	150722557	150722557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctttattggccacagcttCtttcaggacatcttctctgc	6	15	7	13	0	4	0	1	0	3	0	5	1	4	1	2	2	2	1	2	2	1	6			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:150722557C>T	ENST00000368985.3	-	6	978	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.E190K	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	240					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GCCACAGCTTCTTTCAGGACA	0.393													8	29					0	0	0	0	T	150722557	C	T	150722557	3	4	272	1	0	0	0	0	1	0	0	0	4073	922	32	2	289	2	CTSS	1	150722557	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	5905909	150722557	98528064	13	48822											
FLAD1	80308	broad.mit.edu	37	chr1	154956218	154956218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttccagaggcaggaacaaagGagtcgcttgtcaaggatctg	12	8	13	8	1	2	1	1	0	1	1	4	4	3	4	1	4	1	2	1	4	3	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:154956218G>C	ENST00000368433.1	+	1	391	c.48G>C	c.(46-48)agG>agC	p.R16S	FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000292180.3_Missense_Mutation_p.R16S|FLAD1_ENST00000368431.3_Intron|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000315144.10_Intron			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	16					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGAACAAAGGAGTCGCTTGT	0.478													4	75					0	0	0	0	C	154956218	G	C	154956218	3	2	272	1	0	0	0	0	1	0	0	0	5965	1165	41	2	50	2	FLAD1	1	154956218	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	4233661	154956218	94294403	14	48823											
RUSC1	23623	broad.mit.edu	37	chr1	155296505	155296505	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacctggacctgctctttGagcaccaccaccacctgccc	7	8	6	20	0	1	1	0	1	1	0	2	2	2	2	8	1	3	2	8	1	0	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:155296505G>C	ENST00000368352.5	+	8	2147	c.1996G>C	c.(1996-1998)Gag>Cag	p.E666Q	RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000292254.4_Missense_Mutation_p.E197Q|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.E256Q|RUSC1_ENST00000368349.4_Missense_Mutation_p.E197Q	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	666	RUN.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCTGCTCTTTGAGCACCACCA	0.642													22	89					0	0	0	0	C	155296505	G	C	155296505	3	2	272	1	0	0	0	0	1	0	0	0	13835	1291	45	2	2153	2	RUSC1	1	155296505	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	340287	155296505	93954116	15	48824											
FCRL4	83417	broad.mit.edu	37	chr1	157556033	157556033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtacagtagtatccccctgCatggctctgtctgatggcag	7	12	11	11	0	2	1	0	1	2	0	3	1	3	1	2	2	2	6	2	2	3	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:157556033C>A	ENST00000271532.1	-	6	1195	c.1060G>T	c.(1060-1062)Gca>Tca	p.A354S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	354	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TATCCCCCTGCATGGCTCTGT	0.537													5	106					3.59834e-05	6.57161e-05	1	0	A	157556033	C	A	157556033	3	1	272	1	0	0	0	0	1	0	0	0	5842	710	25	4	515	4	FCRL4	1	157556033	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	2259528	157556033	91694588	16	48825											
MNDA	4332	broad.mit.edu	37	chr1	158817562	158817562	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttatgaaatacaggataaTacaggatccatggatgtagt	16	12	9	4	0	0	1	0	1	0	0	1	4	1	4	1	3	2	1	1	3	6	6			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:158817562T>C	ENST00000368141.4	+	6	1293	c.1032T>C	c.(1030-1032)aaT>aaC	p.N344N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	344	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TACAGGATAATACAGGATCCA	0.378													12	73					0	0	0	0	C	158817562	T	C	158817562	2	2	272	1	0	0	0	0	0	0	0	1	9746	1403	49	5		5	MNDA	1	158817562	Silent	SNP	T	TCGA-CV-7089-01A-11D-2012-08	1261529	158817562	90433059	17	48826											
ABL2	27	broad.mit.edu	37	chr1	179077353	179077353	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttcctccttcctgtgtttCtgatgtggactgtcctgcag	3	17	9	12	0	1	1	0	1	1	0	5	2	5	2	4	1	1	2	4	1	0	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:179077353C>G	ENST00000502732.1	-	12	3252	c.3049G>C	c.(3049-3051)Gaa>Caa	p.E1017Q	ABL2_ENST00000367623.4_Missense_Mutation_p.E996Q|ABL2_ENST00000408940.3_Missense_Mutation_p.E981Q|ABL2_ENST00000504405.1_Missense_Mutation_p.E878Q|ABL2_ENST00000512653.1_Missense_Mutation_p.E1002Q|ABL2_ENST00000511413.1_Missense_Mutation_p.E914Q|ABL2_ENST00000344730.3_Missense_Mutation_p.E899Q|ABL2_ENST00000507173.1_Missense_Mutation_p.E893Q	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1017	Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCCTGTGTTTCTGATGTGGAC	0.587			T	ETV6	AML								19	119					0	0	0	0	G	179077353	C	G	179077353	3	3	272	1	0	0	0	0	1	0	0	0	93	922	32	2	503	2	ABL2	1	179077353	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	20259791	179077353	70173268	18	48827											
ZNF281	23528	broad.mit.edu	37	chr1	200376835	200376835	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggaggtatttggagtattCttgcaacatacttgctttat	9	18	9	5	0	1	0	0	0	1	0	1	2	1	2	0	3	4	4	0	3	5	10			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:200376835C>G	ENST00000294740.2	-	2	2123	c.1999G>C	c.(1999-2001)Gaa>Caa	p.E667Q	ZNF281_ENST00000367352.3_Missense_Mutation_p.E631Q|ZNF281_ENST00000367353.1_Missense_Mutation_p.E667Q	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	667					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TTGGAGTATTCTTGCAACATA	0.403													8	91					0	0	0	0	G	200376835	C	G	200376835	3	3	272	1	0	0	0	0	1	0	0	0	17913	922	32	2	692	2	ZNF281	1	200376835	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	21299482	200376835	48873786	19	48828											
ZNF281	23528	broad.mit.edu	37	chr1	200377024	200377024	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatactttgtaaaacctcatCaggaattccagacttgtcat	14	13	5	9	0	3	1	3	0	0	1	4	2	4	2	2	1	2	1	2	1	5	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:200377024C>A	ENST00000294740.2	-	2	1934	c.1810G>T	c.(1810-1812)Gat>Tat	p.D604Y	ZNF281_ENST00000367352.3_Missense_Mutation_p.D568Y|ZNF281_ENST00000367353.1_Missense_Mutation_p.D604Y	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	604					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AAAACCTCATCAGGAATTCCA	0.388													7	52					2.7689e-08	5.22864e-08	1	0	A	200377024	C	A	200377024	3	1	272	1	0	0	0	0	1	0	0	0	17913	826	29	2	881	2	ZNF281	1	200377024	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	189	200377024	48873597	20	48829											
PPP1R15B	84919	broad.mit.edu	37	chr1	204378784	204378784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatggggtctttgagtcacGacagcctttctcattttccc	7	14	9	11	1	3	2	2	1	2	1	5	3	4	2	2	2	1	0	2	2	0	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:204378784G>A	ENST00000367188.4	-	1	2135	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	586					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TTTGAGTCACGACAGCCTTTC	0.438													4	54					0	0	0	0	A	204378784	G	A	204378784	3	1	272	1	0	0	0	0	1	0	0	0	12440	1058	37	1	393	1	PPP1R15B	1	204378784	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	4001760	204378784	44871837	21	48830											
USH2A	7399	broad.mit.edu	37	chr1	215823958	215823958	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcagccccatgggcgctGctggagaacagcctgtagag	8	7	14	12	1	1	2	1	0	1	2	2	3	1	2	3	2	4	3	3	2	2	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:215823958G>A	ENST00000366943.2	-	65	14705	c.14319C>T	c.(14317-14319)agC>agT	p.S4773S	USH2A_ENST00000307340.3_Silent_p.S4773S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4773	Fibronectin type-III 33.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATGGGCGCTGCTGGAGAACA	0.493										HNSCC(13;0.011)			15	88					0	0	0	0	A	215823958	G	A	215823958	2	1	272	1	0	0	0	0	0	0	0	1	17132	1310	46	4		4	USH2A	1	215823958	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	11445174	215823958	33426663	22	48831											
TP53BP2	7159	broad.mit.edu	37	chr1	223987709	223987709	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacattgagaacggacgcacTttcttctctttctccctcag	9	13	6	13	2	4	1	1	1	3	1	6	3	4	2	1	1	2	1	1	1	2	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:223987709T>A	ENST00000391879.2	-	0	67				TP53BP2_ENST00000343537.7_Missense_Mutation_p.K459N|TP53BP2_ENST00000391878.2_Missense_Mutation_p.K330N|TP53BP2_ENST00000498843.1_5'UTR			Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2						apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		ACGGACGCACTTTCTTCTCTT	0.428													5	51					0	0	0	0	A	223987709	T	A	223987709	1	1	272	1	0	0	0	0	0	0	0	0	16479	1606	56	5		5	TP53BP2	1	223987709	Translation_Start_Site	SNP	T	TCGA-CV-7089-01A-11D-2012-08	8163751	223987709	25262912	23	48832											
ALMS1	7840	broad.mit.edu	37	chr2	73828456	73828456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctggagggagccactgcggGagcagaactgtcaggggcag	9	4	18	10	1	1	1	1	0	0	1	1	4	1	4	2	5	4	2	2	5	1	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:73828456G>A	ENST00000264448.6	+	19	12115	c.12004G>A	c.(12004-12006)Gag>Aag	p.E4002K	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.E3960K	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4002					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCCACTGCGGGAGCAGAACTG	0.582													18	106					0	0	0	0	A	73828456	G	A	73828456	3	1	272	1	0	0	0	0	1	0	0	0	535	1175	41	2	12078	2	ALMS1	2	73828456	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08		73828456	169370917	24	48833											
PROM2	150696	broad.mit.edu	37	chr2	95941259	95941259	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccgtgaaggtgaatgagGtgagcaagctggggaaaggt	11	7	17	6	1	0	4	0	4	0	0	1	5	1	5	2	5	2	2	2	5	4	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:95941259G>T	ENST00000317620.9	+	2	427		c.e2+1		PROM2_ENST00000317668.4_Splice_Site|PROM2_ENST00000403131.2_Splice_Site|PROM2_ENST00000542147.1_Splice_Site|PROM2_ENST00000463580.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2							apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGTGAATGAGGTGAGCAAGCT	0.602													5	45					0.00116845	0.00205668	1	0	T	95941259	G	T	95941259	5	4	272	1	0	0	0	0	0	0	1	0	12636	1275	44	4	301	4	PROM2	2	95941259	Splice_Site	SNP	G	TCGA-CV-7089-01A-11D-2012-08	22112803	95941259	147258114	25	48834											
PSD4	23550	broad.mit.edu	37	chr2	113943603	113943603	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccagccctgcatcgtcccagGagggcagcccgcagcttcaa	8	5	11	17	2	1	0	1	0	0	0	3	1	2	1	4	2	4	4	4	2	1	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:113943603G>C	ENST00000245796.6	+	5	1594	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	PSD4_ENST00000441564.2_Missense_Mutation_p.E439Q	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	467					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCGTCCCAGGAGGGCAGCCC	0.617													8	59					0	0	0	0	C	113943603	G	C	113943603	3	2	272	1	0	0	0	0	1	0	0	0	12728	1175	41	2	1413	2	PSD4	2	113943603	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	18002344	113943603	129255770	26	48835											
TMEM177	80775	broad.mit.edu	37	chr2	120439337	120439337	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgctgcagatgtggaGggggatgctcaatccgggcc	6	9	16	10	1	2	1	1	0	1	1	3	3	3	3	2	4	3	3	2	4	1	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:120439337G>C	ENST00000424086.1	+	2	1381	c.908G>C	c.(907-909)aGg>aCg	p.R303T	TMEM177_ENST00000272521.6_Missense_Mutation_p.R303T|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.R303T	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	303						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CAGATGTGGAGGGGGATGCTC	0.577													9	80					0	0	0	0	C	120439337	G	C	120439337	3	2	272	1	0	0	0	0	1	0	0	0	16188	1000	35	4	910	4	TMEM177	2	120439337	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	6495734	120439337	122760036	27	48836											
SCN1A	6323	broad.mit.edu	37	chr2	166854606	166854606	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataaacaggttcaaggtgAagaaggacccaaagatgatg	18	6	11	6	0	1	4	1	2	0	2	1	5	1	5	1	3	1	1	1	3	7	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:166854606A>G	ENST00000423058.2	-	23	4435	c.4418T>C	c.(4417-4419)tTc>tCc	p.F1473S	SCN1A_ENST00000409050.1_Missense_Mutation_p.F1445S|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.F1473S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.F1462S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1473						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTTCAAGGTGAAGAAGGACCC	0.343													4	39					0	0	0	0	G	166854606	A	G	166854606	3	3	272	1	0	0	0	0	1	0	0	0	14001	246	9	5	1627	5	SCN1A	2	166854606	Missense_Mutation	SNP	A	TCGA-CV-7089-01A-11D-2012-08	46415269	166854606	76344767	28	48837											
TTC30A	92104	broad.mit.edu	37	chr2	178481760	178481760	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccaaactcatagtttcctTtggcacaataaagagttcct	13	13	5	10	0	1	1	1	0	0	1	3	1	3	1	3	1	2	3	3	1	6	6			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:178481760T>C	ENST00000355689.4	-	1	1934	c.1670A>G	c.(1669-1671)aAa>aGa	p.K557R	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	557					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			ATAGTTTCCTTTGGCACAATA	0.383													4	242					0	0	0	0	C	178481760	T	C	178481760	3	2	272	1	0	0	0	0	1	0	0	0	16794	1841	64	5	331	5	TTC30A	2	178481760	Missense_Mutation	SNP	T	TCGA-CV-7089-01A-11D-2012-08	11627154	178481760	64717613	29	48838											
TTN	7273	broad.mit.edu	37	chr2	179440094	179440094	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagattcctcacaacacattCtaaccctttcacggttgtga	11	13	5	12	1	3	2	2	1	1	1	4	2	4	2	2	1	2	1	2	1	3	6			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:179440094C>G	ENST00000589042.1	-	326	70989	c.70765G>C	c.(70765-70767)Gaa>Caa	p.E23589Q	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E21948Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14716Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E14649Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E14524Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21021Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21948	Fibronectin type-III 71.						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)			ACAACACATTCTAACCCTTTC	0.507													11	67					0	0	0	0	G	179440094	C	G	179440094	3	3	272	1	0	0	0	0	1	0	0	0	16831	922	32	2	37362	2	TTN	2	179440094	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	958334	179440094	63759279	30	48839											
CWC22	57703	broad.mit.edu	37	chr2	180838488	180838488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacatgggtgaagattggaGaagcactctgtgcttgcaaa	14	9	12	6	0	1	3	0	1	1	2	1	4	1	3	0	2	4	3	0	2	4	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:180838488G>A	ENST00000410053.3	-	7	922	c.623C>T	c.(622-624)tCt>tTt	p.S208F	CWC22_ENST00000295749.6_Missense_Mutation_p.S208F	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	208	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GAAGATTGGAGAAGCACTCTG	0.328													7	50					0	0	0	0	A	180838488	G	A	180838488	3	1	272	1	0	0	0	0	1	0	0	0	4100	942	33	2	2159	2	CWC22	2	180838488	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	1398394	180838488	62360885	31	48840											
SLC4A3	6508	broad.mit.edu	37	chr2	220496825	220496825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaaaaagctggaccGgaggcctcatgaggtcagga	15	4	15	7	1	2	3	2	1	0	2	2	7	2	6	2	5	1	1	2	5	4	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:220496825G>A	ENST00000358055.3	+	7	1459	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SLC4A3_ENST00000373760.2_Missense_Mutation_p.R316Q|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R316Q|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R343Q|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R343Q			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	316					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.R343Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCTGGACCGGAGGCCTCAT	0.652													4	54					0	0	0	0	A	220496825	G	A	220496825	3	1	272	1	0	0	0	0	1	0	0	0	14743	1116	39	1	1050	1	SLC4A3	2	220496825	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	39658337	220496825	22702548	32	48841											
UGT1A6	54578	broad.mit.edu	37	chr2	234602064	234602064	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagggacaccctgaacttCtttaaggagagcaagtttga	13	9	11	8	0	1	3	0	2	1	1	1	6	1	4	1	2	2	2	1	2	3	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:234602064C>G	ENST00000305139.6	+	1	553	c.414C>G	c.(412-414)ttC>ttG	p.F138L	UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		CCCTGAACTTCTTTAAGGAGA	0.488													10	73					0	0	0	0	G	234602064	C	G	234602064	3	3	272	1	0	0	0	0	1	0	0	0	17045	912	32	2	416	2	UGT1A6	2	234602064	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	14105239	234602064	8597309	33	48842											
PBRM1	55193	broad.mit.edu	37	chr3	52623229	52623229	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtatgtgcgatgtaagcctGagaggcctgcagcaccagag	10	8	14	9	1	0	2	0	1	0	2	0	4	0	2	3	1	4	4	3	1	2	2	rs141067977	by1000genomes	TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:52623229G>C	ENST00000356770.4	-	17	2728	c.2726C>G	c.(2725-2727)tCa>tGa	p.S909*	PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S956*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S941*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S956*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S941*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.S941*			Q86U86	PB1_HUMAN	polybromo 1	941					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTAAGCCTGAGAGGCCTGC	0.428			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								13	110					0	0	0	0	C	52623229	G	C	52623229	4	2	272	1	0	0	0	0	0	1	0	0	11562	1294	45	2	2130	2	PBRM1	3	52623229	Nonsense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08		52623229	145399201	34	48843											
PRICKLE2	166336	broad.mit.edu	37	chr3	64132920	64132920	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcactggctgaggagctgcaGagggctctgggtctggttct	5	10	17	9	0	3	2	0	1	3	1	3	3	3	3	0	5	2	6	0	5	0	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:64132920G>C	ENST00000295902.6	-	7	1831	c.1246C>G	c.(1246-1248)Ctg>Gtg	p.L416V	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.L472V	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	416						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGGAGCTGCAGAGGGCTCTGG	0.612													21	93					0	0	0	0	C	64132920	G	C	64132920	3	2	272	1	0	0	0	0	1	0	0	0	12567	933	33	2	1296	2	PRICKLE2	3	64132920	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	11509691	64132920	133889510	35	48844											
PROS1	5627	broad.mit.edu	37	chr3	93617301	93617301	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatgtttacctcacaactCttctgatcttgggcaagttt	11	15	6	9	0	4	1	1	1	3	0	4	1	4	1	1	1	2	3	1	1	5	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:93617301C>G	ENST00000394236.3	-	8	1156	c.840G>C	c.(838-840)aaG>aaC	p.K280N	PROS1_ENST00000407433.1_Missense_Mutation_p.K149N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	280	EGF-like 4; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CCTCACAACTCTTCTGATCTT	0.383													5	64					0	0	0	0	G	93617301	C	G	93617301	3	3	272	1	0	0	0	0	1	0	0	0	12638	912	32	2	1222	2	PROS1	3	93617301	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	29484381	93617301	104405129	36	48845											
ARHGAP31	57514	broad.mit.edu	37	chr3	119134182	119134182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctggaatgcaggtctctGagccaggagacccaaaggtc	11	6	12	12	0	1	2	0	1	1	1	3	4	1	3	3	4	2	1	3	4	2	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:119134182G>A	ENST00000264245.4	+	12	3938	c.3406G>A	c.(3406-3408)Gag>Aag	p.E1136K		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1136					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCAGGTCTCTGAGCCAGGAGA	0.532													6	74					0	0	0	0	A	119134182	G	A	119134182	3	1	272	1	0	0	0	0	1	0	0	0	882	1291	45	2	3452	2	ARHGAP31	3	119134182	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	25516881	119134182	78888248	37	48846											
KBTBD12	166348	broad.mit.edu	37	chr3	127646718	127646718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgttataggaggacagatGaaaattaaaaaccagtatct	18	11	8	4	0	1	2	0	1	1	1	1	4	1	4	1	2	1	2	1	2	9	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:127646718G>A	ENST00000405109.1	+	3	1649	c.1182G>A	c.(1180-1182)atG>atA	p.M394I	KBTBD12_ENST00000405256.1_Missense_Mutation_p.M394I|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000407609.3_Start_Codon_SNP_p.M1I|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	394										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GAGGACAGATGAAAATTAAAA	0.393													20	146					0	0	0	0	A	127646718	G	A	127646718	3	1	272	1	0	0	0	0	1	0	0	0	8044	1290	45	2	1188	2	KBTBD12	3	127646718	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	8512536	127646718	70375712	38	48847											
PIK3R4	30849	broad.mit.edu	37	chr3	130452968	130452968	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctcacggtgaatcatctGagttacctataccaagggaa	12	10	10	9	1	3	2	2	2	1	0	3	3	3	3	2	3	2	2	2	3	6	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:130452968G>C	ENST00000356763.3	-	4	1431	c.874C>G	c.(874-876)Cag>Gag	p.Q292E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	292	Protein kinase.				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						TGAATCATCTGAGTTACCTAT	0.348													9	65					0	0	0	0	C	130452968	G	C	130452968	3	2	272	1	0	0	0	0	1	0	0	0	11993	1299	45	2	3270	2	PIK3R4	3	130452968	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	2806250	130452968	67569462	39	48848											
PIK3R4	30849	broad.mit.edu	37	chr3	130463505	130463505	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctccgtgatgtgtcaaaGaaataattgaaatctgccgg	12	11	9	9	2	2	3	1	2	1	1	4	3	4	3	3	1	1	0	3	1	4	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:130463505G>C	ENST00000356763.3	-	2	1115	c.558C>G	c.(556-558)ttC>ttG	p.F186L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	186	Protein kinase.				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						ATGTGTCAAAGAAATAATTGA	0.408													11	48					0	0	0	0	C	130463505	G	C	130463505	3	2	272	1	0	0	0	0	1	0	0	0	11993	933	33	2	3594	2	PIK3R4	3	130463505	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	10537	130463505	67558925	40	48849											
ZBTB38	253461	broad.mit.edu	37	chr3	141163924	141163924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaatccgagtgcatggaGatgagtgaagtgttcgatga	11	10	14	6	2	0	4	0	3	0	1	2	7	1	4	2	1	2	2	2	1	2	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:141163924G>T	ENST00000514251.1	+	4	2973	c.2694G>T	c.(2692-2694)gaG>gaT	p.E898D	ZBTB38_ENST00000441582.2_Missense_Mutation_p.E898D|ZBTB38_ENST00000321464.5_Missense_Mutation_p.E899D			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	898					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGTGCATGGAGATGAGTGAAG	0.522													16	49					6.72482e-11	1.28865e-10	1	0	T	141163924	G	T	141163924	3	4	272	1	0	0	0	0	1	0	0	0	17634	933	33	2	2696	2	ZBTB38	3	141163924	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	10700419	141163924	56858506	41	48850											
AGTR1	185	broad.mit.edu	37	chr3	148459824	148459824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaacctttcaacaaaaatGagcacgctttcctaccgccc	13	9	4	15	2	2	1	2	1	0	0	3	1	3	1	4	0	4	2	4	0	5	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:148459824G>A	ENST00000542281.1	+	4	1448	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	AGTR1_ENST00000349243.3_Missense_Mutation_p.M334I|AGTR1_ENST00000402260.1_Missense_Mutation_p.M334I|AGTR1_ENST00000404754.2_Missense_Mutation_p.M334I|AGTR1_ENST00000474935.1_Missense_Mutation_p.M334I|AGTR1_ENST00000418473.2_Missense_Mutation_p.M334I|AGTR1_ENST00000497524.1_Missense_Mutation_p.M334I|AGTR1_ENST00000475347.1_Missense_Mutation_p.M334I|AGTR1_ENST00000461609.1_Missense_Mutation_p.M334I	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	334					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CAACAAAAATGAGCACGCTTT	0.403													7	44					0	0	0	0	A	148459824	G	A	148459824	3	1	272	1	0	0	0	0	1	0	0	0	401	1290	45	2	1004	2	AGTR1	3	148459824	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	7295900	148459824	49562606	42	48851											
SI	6476	broad.mit.edu	37	chr3	164776814	164776814	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatgttgtgtgtttcccctCtcataggttgcatatgttgt	6	18	9	8	0	1	0	1	0	1	0	3	0	2	0	2	1	1	5	2	1	2	6			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:164776814C>G	ENST00000264382.3	-	12	1397	c.1335G>C	c.(1333-1335)gaG>gaC	p.E445D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	445	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTTTCCCCTCTCATAGGTTG	0.363										HNSCC(35;0.089)			3	48					0	0	0	0	G	164776814	C	G	164776814	3	3	272	1	0	0	0	0	1	0	0	0	14385	912	32	2	4296	2	SI	3	164776814	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	16316990	164776814	33245616	43	48852											
HTR3C	170572	broad.mit.edu	37	chr3	183778119	183778119	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctcctccatccttactgtCattgtcctctggaacaccta	7	13	5	16	0	2	0	1	0	1	0	6	1	6	1	6	1	2	0	6	1	3	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:183778119C>G	ENST00000318351.1	+	9	1357	c.1323C>G	c.(1321-1323)gtC>gtG	p.V441V		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	441						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TCCTTACTGTCATTGTCCTCT	0.557													24	183					0	0	0	0	G	183778119	C	G	183778119	2	3	272	1	0	0	0	0	0	0	0	1	7499	813	29	2		2	HTR3C	3	183778119	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08	19001305	183778119	14244311	44	48853											
IL1RAP	3556	broad.mit.edu	37	chr3	190362120	190362121	+	Frame_Shift_Ins	INS	-	-	A																															gattctcattgttgtttaccINSatgtttactggctagagatg																										TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:190362120_190362121insA	ENST00000412504.2	+	9	1387_1388	c.1135_1136insA	c.(1135-1137)tgtfs	p.C379fs	IL1RAP_ENST00000439062.1_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000443369.2_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000072516.3_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000447382.1_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000317757.3_Frame_Shift_Ins_p.C379fs			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	379					inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TGTTGTTTACCATGTTTACTGG	0.416													20	47	---	---	---	---					A	190362121	-	A	190362120	7	5	272	1	0	1	1	0	0	0	0	0	7713	594	21	0	1185	0	IL1RAP	3	190362120	Frame_Shift_Ins	INS	-	TCGA-CV-7089-01A-11D-2012-08	6584001	190362120	7660310	45	48854											
GP5	2814	broad.mit.edu	37	chr3	194118031	194118031	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgccctgcggaagcgcgctCagccgcgggctcagagtcac	6	4	15	16	6	3	1	3	0	0	1	3	2	3	2	2	2	3	2	2	2	1	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:194118031C>G	ENST00000401815.1	-	1	1052	c.981G>C	c.(979-981)ctG>ctC	p.L327L	GP5_ENST00000323007.3_Silent_p.L327L			P40197	GPV_HUMAN	glycoprotein V (platelet)	327					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GAAGCGCGCTCAGCCGCGGGC	0.726													3	22					0	0	0	0	G	194118031	C	G	194118031	2	3	272	1	0	0	0	0	0	0	0	1	6632	813	29	2		2	GP5	3	194118031	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08	3755911	194118031	3904399	46	48855											
TBC1D1	23216	broad.mit.edu	37	chr4	38134714	38134714	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctataacaggtatttgaaAtggacatcgctaaacagtta	15	13	7	6	1	1	1	0	1	1	0	2	2	1	2	0	2	2	3	0	2	7	7			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:38134714A>G	ENST00000261439.4	+	19	3497	c.3142A>G	c.(3142-3144)Atg>Gtg	p.M1048V	TBC1D1_ENST00000508802.1_Missense_Mutation_p.M1039V|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1048						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GGTATTTGAAATGGACATCGC	0.423													8	51					0	0	0	0	G	38134714	A	G	38134714	3	3	272	1	0	0	0	0	1	0	0	0	15688	101	4	5	3212	5	TBC1D1	4	38134714	Missense_Mutation	SNP	A	TCGA-CV-7089-01A-11D-2012-08		38134714	153019562	47	48856											
PDS5A	23244	broad.mit.edu	37	chr4	39910122	39910122	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaatgacatcatgacgaaTagcttcttctggatcatgtg	13	12	8	8	1	4	2	2	2	2	0	4	4	4	3	0	1	2	1	0	1	4	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:39910122T>C	ENST00000303538.8	-	11	1665	c.1126A>G	c.(1126-1128)Att>Gtt	p.I376V	PDS5A_ENST00000503396.1_Missense_Mutation_p.I376V	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	376					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.I376L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TCATGACGAATAGCTTCTTCT	0.353													16	100					0	0	0	0	C	39910122	T	C	39910122	3	2	272	1	0	0	0	0	1	0	0	0	11762	1406	49	5	3012	5	PDS5A	4	39910122	Missense_Mutation	SNP	T	TCGA-CV-7089-01A-11D-2012-08	1775408	39910122	151244154	48	48857											
MUC7	4589	broad.mit.edu	37	chr4	71346858	71346858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccaaatgtgacttttcttCcccagaatgccaccaccata	11	12	4	14	0	1	2	0	1	1	1	3	2	3	2	6	0	1	0	6	0	3	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:71346858C>A	ENST00000413702.1	+	4	685	c.397C>A	c.(397-399)Ccc>Acc	p.P133T	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.P133T|MUC7_ENST00000456088.1_Missense_Mutation_p.P133T	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	133	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GACTTTTCTTCCCCAGAATGC	0.448													13	106					4.3838e-07	8.08198e-07	1	0	A	71346858	C	A	71346858	3	1	272	1	0	0	0	0	1	0	0	0	10051	855	30	2	403	2	MUC7	4	71346858	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	31436736	71346858	119807418	49	48858											
KIAA1109	84162	broad.mit.edu	37	chr4	123230492	123230492	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtactctcatcactgcAtgctcttcagagtctctggt	9	13	8	11	0	5	1	3	0	3	1	7	2	5	1	0	1	3	3	0	1	2	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:123230492A>G	ENST00000264501.4	+	59	10498	c.10125A>G	c.(10123-10125)gcA>gcG	p.A3375A	KIAA1109_ENST00000388738.3_Silent_p.A3375A|KIAA1109_ENST00000455637.1_Silent_p.A3375A			Q2LD37	K1109_HUMAN	KIAA1109	3375					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCATCACTGCATGCTCTTCAG	0.378													11	62					0	0	0	0	G	123230492	A	G	123230492	2	3	272	1	0	0	0	0	0	0	0	1	8259	204	8	5		5	KIAA1109	4	123230492	Silent	SNP	A	TCGA-CV-7089-01A-11D-2012-08	51883634	123230492	67923784	50	48859											
DCHS2	54798	broad.mit.edu	37	chr4	155254167	155254167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtcagcaccagcagggCtgcctgaggatgcacgcctt	8	7	13	13	1	1	1	1	1	0	0	1	3	1	2	3	2	4	4	3	2	0	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:155254167C>T	ENST00000357232.3	-	9	1695	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	DCHS2_ENST00000339452.1_Missense_Mutation_p.A1065T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	566	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACCAGCAGGGCTGCCTGAGGA	0.607													9	84					0	0	0	0	T	155254167	C	T	155254167	3	4	272	1	0	0	0	0	1	0	0	0	4320	797	28	4	7218	4	DCHS2	4	155254167	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	32023675	155254167	35900109	51	48860											
FAT1	2195	broad.mit.edu	37	chr4	187541760	187541760	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagctaatgtttcggcctCggtggaattctctttcacta	8	14	9	10	2	2	0	1	0	1	0	5	2	2	1	1	3	1	2	1	3	3	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:187541760C>A	ENST00000441802.2	-	10	6189	c.5980G>T	c.(5980-5982)Gag>Tag	p.E1994*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1994	Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.E1994K(1)|p.E1997K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTTCGGCCTCGGTGGAATTC	0.418										HNSCC(5;0.00058)			101	237					6.65942e-36	1.28881e-35	1	0	A	187541760	C	A	187541760	4	1	272	1	0	0	0	0	0	1	0	0	5734	893	31	3	7858	3	FAT1	4	187541760	Nonsense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	32287593	187541760	3612516	52	48861											
GCNT4	51301	broad.mit.edu	37	chr5	74325189	74325189	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaatcttgcccacacaagTtgataacatatttccactgg	14	11	6	10	0	1	1	0	1	1	0	2	2	2	1	2	1	2	1	2	1	5	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:74325189T>C	ENST00000322348.4	-	1	1535	c.674A>G	c.(673-675)aAc>aGc	p.N225S		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	225					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CCCACACAAGTTGATAACATA	0.418													4	78					0	0	0	0	C	74325189	T	C	74325189	3	2	272	1	0	0	0	0	1	0	0	0	6352	1725	60	5	691	5	GCNT4	5	74325189	Missense_Mutation	SNP	T	TCGA-CV-7089-01A-11D-2012-08		74325189	106590071	53	48862											
CMYA5	202333	broad.mit.edu	37	chr5	79030301	79030301	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccagaaaatgtggctagtCaacacgaacagagaatagca	18	5	10	8	1	1	2	1	0	0	2	1	4	1	2	1	1	4	2	1	1	7	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:79030301C>G	ENST00000446378.2	+	2	5744	c.5713C>G	c.(5713-5715)Caa>Gaa	p.Q1905E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1905						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGTGGCTAGTCAACACGAACA	0.468													7	42					0	0	0	0	G	79030301	C	G	79030301	3	3	272	1	0	0	0	0	1	0	0	0	3620	827	29	2	5719	2	CMYA5	5	79030301	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	4705112	79030301	101884959	54	48863											
GPR98	84059	broad.mit.edu	37	chr5	90136535	90136535	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgtcatcctaacgccagaGacaggatctttaaattcatt	13	12	7	9	1	3	1	2	0	1	1	4	4	4	2	2	1	1	0	2	1	3	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:90136535G>C	ENST00000405460.2	+	78	16848	c.16752G>C	c.(16750-16752)gaG>gaC	p.E5584D	GPR98_ENST00000425867.2_Missense_Mutation_p.E1245D	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5584					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAACGCCAGAGACAGGATCTT	0.428													28	190					0	0	0	0	C	90136535	G	C	90136535	3	2	272	1	0	0	0	0	1	0	0	0	6771	933	33	2	17062	2	GPR98	5	90136535	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	11106234	90136535	90778725	55	48864											
IRF1	3659	broad.mit.edu	37	chr5	131819736	131819736	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatgttcttcagatctgtGaagacacgctgtagactcag	10	12	9	10	1	4	4	2	1	2	3	5	4	5	4	1	0	0	3	1	0	2	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:131819736G>A	ENST00000245414.4	-	10	1143	c.885C>T	c.(883-885)ttC>ttT	p.F295F	IRF1_ENST00000405885.2_Silent_p.F295F	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	295					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TCAGATCTGTGAAGACACGCT	0.582													5	59					0	0	0	0	A	131819736	G	A	131819736	2	1	272	1	0	0	0	0	0	0	0	1	7880	1281	45	2		2	IRF1	5	131819736	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	41683201	131819736	49095524	56	48865											
ANKHD1	54882	broad.mit.edu	37	chr5	139885401	139885401	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatatagaagcacagtctGaacgaactaaggatactccg	16	7	10	8	2	1	3	0	1	1	2	2	6	2	4	1	1	4	1	1	1	7	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:139885401G>C	ENST00000297183.6	+	18	3479	c.3355G>C	c.(3355-3357)Gaa>Caa	p.E1119Q	ANKHD1_ENST00000360839.2_Missense_Mutation_p.E1119Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E1119Q	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACAGTCTGAACGAACTAA	0.393													17	149					0	0	0	0	C	139885401	G	C	139885401	3	2	272	1	0	0	0	0	1	0	0	0	628	1291	45	2	3531	2	ANKHD1	5	139885401	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	8065665	139885401	41029859	57	48866											
SLC26A2	1836	broad.mit.edu	37	chr5	149357721	149357721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatttttggagtactgtGccttatgattggtgagacag	8	14	14	5	0	0	2	0	2	0	1	0	4	0	3	1	3	2	2	1	3	2	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:149357721G>T	ENST00000286298.4	+	2	774	c.506G>T	c.(505-507)tGc>tTc	p.C169F		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	169						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	p.C169F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAGTACTGTGCCTTATGATT	0.448													18	96					3.41278e-10	6.50771e-10	1	0	T	149357721	G	T	149357721	3	4	272	1	0	0	0	0	1	0	0	0	14605	1319	46	4	508	4	SLC26A2	5	149357721	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	9472320	149357721	31557539	58	48867											
MYLIP	29116	broad.mit.edu	37	chr6	16143386	16143386	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatagcgaagggcagaaactGctcattggggttggacctga	11	8	15	7	1	1	2	1	1	0	1	1	5	1	3	1	4	3	3	1	4	3	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:16143386G>T	ENST00000349606.4	+	3	561	c.57G>T	c.(55-57)ctG>ctT	p.L19L	MYLIP_ENST00000356840.3_Silent_p.L200L			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	200	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GGCAGAAACTGCTCATTGGGG	0.433													4	66					0.00024832	0.000445145	1	0	T	16143386	G	T	16143386	2	4	272	1	0	0	0	0	0	0	0	1	10125	1306	46	4		4	MYLIP	6	16143386	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08		16143386	154971681	59	48868											
DCDC2	51473	broad.mit.edu	37	chr6	24205370	24205370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaatcaaaatccaattGtgacatcgtgtggctgaatg	14	11	10	6	1	1	3	1	3	0	0	3	3	2	3	1	1	0	1	1	1	6	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:24205370G>T	ENST00000378450.3	-	1	161	c.142C>A	c.(142-144)Caa>Aaa	p.Q48K	DCDC2_ENST00000378454.3_Intron			Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	76	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AAATCCAATTGTGACATCGTG	0.403													8	143					1.06961e-07	2.00038e-07	1	0	T	24205370	G	T	24205370	3	4	272	1	0	0	0	0	1	0	0	0	4317	1392	48	4		4	DCDC2	6	24205370	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	8061984	24205370	146909697	60	48869											
MAS1L	116511	broad.mit.edu	37	chr6	29454874	29454874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagtaggaacatgggggccGagatctgcaccaccgcatag	12	5	14	10	2	1	2	0	0	1	2	1	4	1	3	3	3	2	3	3	3	3	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:29454874G>A	ENST00000377127.3	-	1	864	c.806C>T	c.(805-807)tCg>tTg	p.S269L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	269						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	p.S269L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CATGGGGGCCGAGATCTGCAC	0.512													7	37					0	0	0	0	A	29454874	G	A	29454874	3	1	272	1	0	0	0	0	1	0	0	0	9390	1059	37	1	332	1	MAS1L	6	29454874	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	5249504	29454874	141660193	61	48870											
HLA-DOA	3111	broad.mit.edu	37	chr6	32974913	32974913	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacggtgcccacgaggaaGcccaccaggccgatggccag	10	2	15	14	3	0	0	0	0	0	0	0	4	0	2	5	5	2	0	5	5	1	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:32974913G>A	ENST00000229829.5	-	4	768	c.693C>T	c.(691-693)ggC>ggT	p.G231G	HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	231					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCACGAGGAAGCCCACCAGGC	0.627													17	107					0	0	0	0	A	32974913	G	A	32974913	2	1	272	1	0	0	0	0	0	0	0	1	7250	958	34	4		4	HLA-DOA	6	32974913	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	3520039	32974913	138140154	62	48871											
KLHL31	401265	broad.mit.edu	37	chr6	53516703	53516703	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtagcactccacggtgAgcacgtccacgcgctccccg	6	6	12	17	5	0	1	0	1	0	0	3	1	3	1	4	2	2	5	4	2	1	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:53516703A>G	ENST00000370905.3	-	3	1738	c.1598T>C	c.(1597-1599)cTc>cCc	p.L533P	KLHL31_ENST00000407079.1_Missense_Mutation_p.L533P	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CTCCACGGTGAGCACGTCCAC	0.736													3	17					0	0	0	0	G	53516703	A	G	53516703	3	3	272	1	0	0	0	0	1	0	0	0	8437	304	11	5	310	5	KLHL31	6	53516703	Missense_Mutation	SNP	A	TCGA-CV-7089-01A-11D-2012-08	20541790	53516703	117598364	63	48872											
TRMT11	60487	broad.mit.edu	37	chr6	126334221	126334221	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttaggtggaagactagtCtattggttaccggtgtatac	9	15	12	5	1	1	1	0	0	1	1	1	2	1	2	1	4	2	3	1	4	7	8			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:126334221C>T	ENST00000334379.5	+	11	1234	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V	TRMT11_ENST00000368332.3_Silent_p.V371V	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	371					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		GAAGACTAGTCTATTGGTTAC	0.343													7	30					0	0	0	0	T	126334221	C	T	126334221	2	4	272	1	0	0	0	0	0	0	0	1	16657	900	32	2		2	TRMT11	6	126334221	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08	72817518	126334221	44780846	64	48873											
ARID1B	57492	broad.mit.edu	37	chr6	157505453	157505453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagctccctgaaaaagcagtAtattcagtacctgtttgcct	11	12	8	10	0	1	1	1	1	0	0	2	2	2	1	3	0	4	5	3	0	5	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:157505453A>G	ENST00000346085.5	+	13	3435	c.3434A>G	c.(3433-3435)tAt>tGt	p.Y1145C	ARID1B_ENST00000367148.1_Missense_Mutation_p.Y1185C|ARID1B_ENST00000350026.5_Missense_Mutation_p.Y1132C|ARID1B_ENST00000275248.4_Missense_Mutation_p.Y1127C	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1132					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AAAAAGCAGTATATTCAGTAC	0.517													13	53					0	0	0	0	G	157505453	A	G	157505453	3	3	272	1	0	0	0	0	1	0	0	0	916	449	16	5	3484	5	ARID1B	6	157505453	Missense_Mutation	SNP	A	TCGA-CV-7089-01A-11D-2012-08	31171232	157505453	13609614	65	48874											
TULP4	56995	broad.mit.edu	37	chr6	158924402	158924402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgtacccacccagcctctCctattgcaccctgcccccca	6	8	5	22	0	1	0	0	0	1	0	2	0	1	0	8	0	4	3	8	0	2	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:158924402C>T	ENST00000367097.3	+	13	5064	c.3707C>T	c.(3706-3708)tCc>tTc	p.S1236F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1236					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCAGCCTCTCCTATTGCACC	0.607													14	85					0	0	0	0	T	158924402	C	T	158924402	3	4	272	1	0	0	0	0	1	0	0	0	16872	855	30	2	3757	2	TULP4	6	158924402	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	1418949	158924402	12190665	66	48875											
TMEM196	256130	broad.mit.edu	37	chr7	19765219	19765219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcataactggctagtcgaCaagtgagccaggaagagaga	14	7	13	7	1	1	3	1	1	0	2	2	6	1	4	1	2	2	2	1	2	4	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:19765219C>A	ENST00000405844.1	-	3	1072	c.377G>T	c.(376-378)tGt>tTt	p.C126F	TMEM196_ENST00000405764.3_Missense_Mutation_p.C126F|TMEM196_ENST00000433641.1_Missense_Mutation_p.C58F|TMEM196_ENST00000493519.1_Missense_Mutation_p.C58F|TMEM196_ENST00000422233.1_Missense_Mutation_p.C58F			Q5HYL7	TM196_HUMAN	transmembrane protein 196	132						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						GGCTAGTCGACAAGTGAGCCA	0.498													11	52					6.40141e-05	0.000115821	1	0	A	19765219	C	A	19765219	3	1	272	1	0	0	0	0	1	0	0	0	16212	478	17	4	149	4	TMEM196	7	19765219	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08		19765219	139373444	67	48876											
DNAH11	8701	broad.mit.edu	37	chr7	21775391	21775391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtaggtgacacattggCaagtctctctgaggattaca	10	13	10	8	0	2	2	0	2	2	0	3	3	2	3	0	3	1	2	0	3	3	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:21775391C>T	ENST00000328843.6	+	47	7626	c.7595C>T	c.(7594-7596)gCa>gTa	p.A2532V	DNAH11_ENST00000409508.3_Missense_Mutation_p.A2525V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2532	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACACATTGGCAAGTCTCTCT	0.413									Kartagener syndrome				9	88					0	0	0	0	T	21775391	C	T	21775391	3	4	272	1	0	0	0	0	1	0	0	0	4636	710	25	4	7778	4	DNAH11	7	21775391	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	2010172	21775391	137363272	68	48877											
BMPER	168667	broad.mit.edu	37	chr7	34125426	34125426	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcatggctgcgccgcatctCaagggcaagctctgtggtct	6	10	13	12	2	4	0	2	0	3	0	5	0	4	0	1	3	2	4	1	3	2	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:34125426C>G	ENST00000297161.2	+	14	1841	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	BMPER_ENST00000426693.1_Silent_p.L489L	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	489	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CGCCGCATCTCAAGGGCAAGC	0.433													9	43					0	0	0	0	G	34125426	C	G	34125426	2	3	272	1	0	0	0	0	0	0	0	1	1473	813	29	2		2	BMPER	7	34125426	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08	12350035	34125426	125013237	69	48878											
SUN3	256979	broad.mit.edu	37	chr7	48035654	48035654	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataatatctggaggcatttCatgatttaggaaacctatcc	14	13	7	7	0	2	1	1	1	1	0	3	3	3	3	2	3	1	1	2	3	6	6			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:48035654C>G	ENST00000453192.2	-	8	874	c.631G>C	c.(631-633)Gaa>Caa	p.E211Q	SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.E223Q|SUN3_ENST00000412142.1_Missense_Mutation_p.E123Q|SUN3_ENST00000297325.4_Missense_Mutation_p.E223Q			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	223	SUN.					integral to membrane		p.E223K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGAGGCATTTCATGATTTAGG	0.284													11	73					0	0	0	0	G	48035654	C	G	48035654	3	3	272	1	0	0	0	0	1	0	0	0	15483	835	29	2	422	2	SUN3	7	48035654	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	13910228	48035654	111103009	70	48879											
ELN	2006	broad.mit.edu	37	chr7	73466086	73466086	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccccatctcaacaggtgctgGagcagccggagtcctccctg	7	7	11	16	1	1	0	1	0	1	0	4	2	3	2	5	3	4	2	5	3	1	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:73466086G>C	ENST00000252034.7	+	16	1205	c.806G>C	c.(805-807)gGa>gCa	p.G269A	ELN_ENST00000429192.1_Missense_Mutation_p.G274A|ELN_ENST00000380575.4_Missense_Mutation_p.G259A|ELN_ENST00000358929.4_Missense_Mutation_p.G269A|ELN_ENST00000445912.1_Missense_Mutation_p.G269A|ELN_ENST00000380553.4_Missense_Mutation_p.G152A|ELN_ENST00000357036.5_Missense_Mutation_p.G274A|ELN_ENST00000458204.1_Missense_Mutation_p.G259A|ELN_ENST00000380576.5_Missense_Mutation_p.G269A|ELN_ENST00000414324.1_Missense_Mutation_p.G264A|ELN_ENST00000320399.6_Missense_Mutation_p.G269A|ELN_ENST00000320492.7_Missense_Mutation_p.G233A|ELN_ENST00000380584.4_Missense_Mutation_p.G255A|ELN_ENST00000380562.4_Missense_Mutation_p.G269A	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	269	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	ACAGGTGCTGGAGCAGCCGGA	0.597			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"				OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	34					0	0	0	0	C	73466086	G	C	73466086	3	2	272	1	0	0	0	0	1	0	0	0	5109	1174	41	2	883	2	ELN	7	73466086	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	25430432	73466086	85672577	71	48880											
ZNF804B	219578	broad.mit.edu	37	chr7	88964913	88964913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaaagcaagagaaatcaaGagtctttgggcagccctcac	16	7	9	9	0	3	2	2	0	1	2	3	3	3	2	1	1	2	2	1	1	5	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:88964913G>A	ENST00000333190.4	+	4	3226	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	873						intracellular	zinc ion binding	p.E873*(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAGAAATCAAGAGTCTTTGGG	0.428										HNSCC(36;0.09)			8	60					0	0	0	0	A	88964913	G	A	88964913	3	1	272	1	0	0	0	0	1	0	0	0	18264	943	33	2	2631	2	ZNF804B	7	88964913	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	15498827	88964913	70173750	72	48881											
CCDC132	55610	broad.mit.edu	37	chr7	92987685	92987685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttgcctgggatcccatatCaataagaaagcaagacaaaa	17	8	8	8	0	1	2	1	0	0	2	2	3	2	3	2	1	2	2	2	1	7	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:92987685C>G	ENST00000544910.1	+	29	2962	c.2742C>G	c.(2740-2742)atC>atG	p.I914M	CCDC132_ENST00000305866.5_Missense_Mutation_p.I944M|CCDC132_ENST00000535481.1_Missense_Mutation_p.I664M|CCDC132_ENST00000541136.1_3'UTR	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	944										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GATCCCATATCAATAAGAAAG	0.383													12	77					0	0	0	0	G	92987685	C	G	92987685	3	3	272	1	0	0	0	0	1	0	0	0	2792	816	29	2	2984	2	CCDC132	7	92987685	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	4022772	92987685	66150978	73	48882											
ZAN	7455	broad.mit.edu	37	chr7	100345255	100345255	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaattacacagccgtgggAcggatacaggtacagagaag	14	6	13	8	2	1	1	1	0	0	1	1	4	1	3	1	3	4	1	1	3	5	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:100345255A>G	ENST00000542585.1	+	0	1162				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAGCCGTGGGACGGATACAGG	0.527													3	58					0	0	0	0	G	100345255	A	G	100345255	1	3	272	0	1	0	0	0	0	0	0	0	17609	262	10	5		5	ZAN	7	100345255	RNA	SNP	A	TCGA-CV-7089-01A-11D-2012-08	7357570	100345255	58793408	74	48883											
ZAN	7455	broad.mit.edu	37	chr7	100369720	100369721	+	RNA	INS	-	-	T																															ccctttcttcctctaaattcINSttttttttttttttgagacg																										TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535													2	4	---	---	---	---					T	100369721	-	T	100369720	6	5	272	0	1	1	1	0	0	0	0	0	17609	928	32	0		0	ZAN	7	100369720	RNA	INS	-	TCGA-CV-7089-01A-11D-2012-08	24465	100369720	58768943	75	48884											
LAMB4	22798	broad.mit.edu	37	chr7	107667339	107667339	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaatgtctcatttttctatCttgctgagttctgaaaacag	10	17	6	8	0	5	2	2	2	4	0	6	2	5	2	0	0	2	2	0	0	4	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:107667339C>G	ENST00000388780.3	-	34	5251	c.5168G>C	c.(5167-5169)aGa>aCa	p.R1723T	LAMB4_ENST00000388781.3_Intron|LAMB4_ENST00000205386.4_Intron|LAMB4_ENST00000483484.1_Intron			A4D0S4	LAMB4_HUMAN	laminin, beta 4	0	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATTTTTCTATCTTGCTGAGTT	0.458													7	46					0	0	0	0	G	107667339	C	G	107667339	3	3	272	1	0	0	0	0	1	0	0	0	8666	928	32	2		2	LAMB4	7	107667339	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	7297619	107667339	51471324	76	48885											
GPR37	2861	broad.mit.edu	37	chr7	124404013	124404013	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggaaggcattacctctaTatagggcacgatcttgcagg	10	10	11	10	1	2	0	0	0	2	0	2	2	2	1	2	4	2	3	2	4	5	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:124404013T>C	ENST00000303921.2	-	1	1668	c.1018A>G	c.(1018-1020)Ata>Gta	p.I340V		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	340						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATTACCTCTATATAGGGCACG	0.498													34	211					0	0	0	0	C	124404013	T	C	124404013	3	2	272	1	0	0	0	0	1	0	0	0	6740	1406	49	5	831	5	GPR37	7	124404013	Missense_Mutation	SNP	T	TCGA-CV-7089-01A-11D-2012-08	16736674	124404013	34734650	77	48886											
POT1	25913	broad.mit.edu	37	chr7	124503478	124503478	+	Missense_Mutation	SNP	G	G	A																															caggtcaaaatactgcattgGctgaacatcacacaatttta																										TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:124503478G>A	ENST00000357628.3	-	8	1070	c.472C>T	c.(472-474)Cca>Tca	p.P158S	POT1_ENST00000393329.1_Missense_Mutation_p.P27S	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	158					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TACTGCATTGGCTGAACATCA	0.408													11	79					0	0	0	0	A	124503478	G	A	124503478	3	1	272	1	0	0	0	0	1	0	0	0	12332	1203	42	4	1480	4	POT1	7	124503478	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	99465	124503478	34635185	78	48887	381	2									
POT1	25913	broad.mit.edu	37	chr7	124503479	124503479	+	Missense_Mutation	SNP	C	C	A																															aggtcaaaatactgcattggCtgaacatcacacaattttag																										TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:124503479C>A	ENST00000357628.3	-	8	1069	c.471G>T	c.(469-471)caG>caT	p.Q157H	POT1_ENST00000393329.1_Missense_Mutation_p.Q26H	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	157					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACTGCATTGGCTGAACATCAC	0.408													12	77					0.00136819	0.00239742	1	0	A	124503479	C	A	124503479	3	1	272	1	0	0	0	0	1	0	0	0	12332	796	28	4	1481	4	POT1	7	124503479	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	1	124503479	34635184	79	48888	381	2									
ATP6V0A4	50617	broad.mit.edu	37	chr7	138429966	138429966	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtagatcaaacccgtgtaGatggagaagatgcccataag	14	9	11	7	1	1	4	1	0	0	4	1	5	1	4	2	1	2	2	2	1	5	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:138429966G>C	ENST00000310018.2	-	14	1662	c.1380C>G	c.(1378-1380)atC>atG	p.I460M	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.I460M|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.I460M	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	460					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AACCCGTGTAGATGGAGAAGA	0.488													9	88					0	0	0	0	C	138429966	G	C	138429966	3	2	272	1	0	0	0	0	1	0	0	0	1174	932	33	2	1178	2	ATP6V0A4	7	138429966	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	13926487	138429966	20708697	80	48889											
KCNB2	9312	broad.mit.edu	37	chr8	73849039	73849039	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacaaaggactccgccgaCgataatcacctgtcgccaag	14	5	8	14	4	1	0	1	0	0	0	3	3	2	1	4	1	1	0	4	1	4	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr8:73849039C>T	ENST00000523207.1	+	3	2037	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	483					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTCCGCCGACGATAATCACC	0.512													13	111					0	0	0	0	T	73849039	C	T	73849039	2	4	272	1	0	0	0	0	0	0	0	1	8066	535	19	1		1	KCNB2	8	73849039	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08		73849039	72514983	81	48890											
RBM12B	389677	broad.mit.edu	37	chr8	94746869	94746869	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcctgaagtcctcctcagaAggccgcctgaagtcttcctc	7	9	9	16	2	2	3	1	2	1	1	6	3	5	3	6	1	0	0	6	1	3	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr8:94746869A>G	ENST00000399300.2	-	3	1983	c.1770T>C	c.(1768-1770)ccT>ccC	p.P590P	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.P590P	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	590							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCTCAGAAGGCCGCCTGA	0.617													21	81					0	0	0	0	G	94746869	A	G	94746869	2	3	272	1	0	0	0	0	0	0	0	1	13196	59	3	5		5	RBM12B	8	94746869	Silent	SNP	A	TCGA-CV-7089-01A-11D-2012-08	20897830	94746869	51617153	82	48891											
ZC3H3	23144	broad.mit.edu	37	chr8	144620188	144620188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaccttgtgctgctgcgtCtccggatgatcttggtgcgg	3	12	13	13	3	2	1	0	1	2	0	3	2	2	2	3	3	4	2	3	3	0	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr8:144620188C>T	ENST00000262577.5	-	2	1380	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	450					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCTGCTGCGTCTCCGGATGAT	0.617													9	85					0	0	0	0	T	144620188	C	T	144620188	3	4	272	1	0	0	0	0	1	0	0	0	17664	913	32	2	1541	2	ZC3H3	8	144620188	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	49873319	144620188	1743834	83	48892											
ZNF7	7553	broad.mit.edu	37	chr8	146067676	146067676	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcaaattctaaaagcctCagacagtccaagccttgttg	13	10	7	11	0	3	1	2	0	1	1	4	1	4	1	3	0	3	2	3	0	4	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr8:146067676C>G	ENST00000528372.1	+	5	1424	c.1184C>G	c.(1183-1185)tCa>tGa	p.S395*	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Nonsense_Mutation_p.S406*|ZNF7_ENST00000325241.6_Nonsense_Mutation_p.S395*|ZNF7_ENST00000544249.1_Nonsense_Mutation_p.S299*|ZNF7_ENST00000525266.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	395					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		CTAAAAGCCTCAGACAGTCCA	0.493													7	79					0	0	0	0	G	146067676	C	G	146067676	4	3	272	1	0	0	0	0	0	1	0	0	18197	838	29	2	1198	2	ZNF7	8	146067676	Nonsense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	1447488	146067676	296346	84	48893											
KANK1	23189	broad.mit.edu	37	chr9	711776	711776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggaacagctctcccGggcccgaagaagtggcgggg	8	4	16	13	3	1	1	0	0	1	1	2	3	1	2	3	5	3	2	3	5	3	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:711776G>A	ENST00000382303.1	+	7	1662	c.1010G>A	c.(1009-1011)cGg>cAg	p.R337Q	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.R337Q|KANK1_ENST00000382293.3_Missense_Mutation_p.R179Q	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	337					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CAGCTCTCCCGGGCCCGAAGA	0.537													8	91					0	0	0	0	A	711776	G	A	711776	3	1	272	1	0	0	0	0	1	0	0	0	8029	1116	39	1	1016	1	KANK1	9	711776	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08		711776	140501655	85	48894											
TAF1L	138474	broad.mit.edu	37	chr9	32632974	32632974	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgcgtttgaagtcagcGcagagctttagcctcttccg	6	12	11	12	3	2	2	1	1	1	1	3	2	3	2	3	0	4	3	3	0	2	4	rs146604611	byFrequency	TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:32632974G>A	ENST00000242310.4	-	1	2693	c.2604C>T	c.(2602-2604)tgC>tgT	p.C868C		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	868					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAAGTCAGCGCAGAGCTTTA	0.468													20	154					0	0	0	0	A	32632974	G	A	32632974	2	1	272	1	0	0	0	0	0	0	0	1	15614	1079	38	1		1	TAF1L	9	32632974	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	31921198	32632974	108580457	86	48895											
UNC13B	10497	broad.mit.edu	37	chr9	35231142	35231142	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaacacatatgtgaccctGaaagtacagaatgtgaagag	16	10	9	6	0	0	5	0	3	0	2	0	5	0	5	1	0	2	1	1	0	6	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:35231142G>A	ENST00000378495.3	+	3	300	c.78G>A	c.(76-78)ctG>ctA	p.L26L	UNC13B_ENST00000396787.1_Silent_p.L26L|UNC13B_ENST00000378496.4_Silent_p.L26L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	26	C2 1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ATGTGACCCTGAAAGTACAGA	0.393													5	33					0	0	0	0	A	35231142	G	A	35231142	2	1	272	1	0	0	0	0	0	0	0	1	17081	1277	45	2		2	UNC13B	9	35231142	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	2598168	35231142	105982289	87	48896											
ZNF782	158431	broad.mit.edu	37	chr9	99581236	99581236	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcccttatgtgaaccttctGatgtacactgaaagttgact	10	14	8	9	0	1	4	0	4	1	0	1	4	1	4	2	0	3	2	2	0	4	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:99581236G>A	ENST00000481138.1	-	6	1730	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*	ZNF782_ENST00000535338.1_Nonsense_Mutation_p.Q225*	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGAACCTTCTGATGTACACTG	0.418													31	200					0	0	0	0	A	99581236	G	A	99581236	4	1	272	1	0	0	0	0	0	1	0	0	18248	1299	45	2	1034	2	ZNF782	9	99581236	Nonsense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	64350094	99581236	41632195	88	48897											
RABEPK	10244	broad.mit.edu	37	chr9	127990196	127990196	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacttttctagacactctGacctggtcacagccagagac	10	12	7	12	0	3	3	1	1	2	2	3	4	3	3	2	1	2	0	2	1	2	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:127990196G>T	ENST00000373538.3	+	6	844	c.534G>T	c.(532-534)ctG>ctT	p.L178L	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Silent_p.L127L|RABEPK_ENST00000394125.4_Silent_p.L178L	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	178					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TAGACACTCTGACCTGGTCAC	0.483													10	68					9.70103e-10	1.84083e-09	1	0	T	127990196	G	T	127990196	2	4	272	1	0	0	0	0	0	0	0	1	13045	1277	45	2		2	RABEPK	9	127990196	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	28408960	127990196	13223235	89	48898											
SLC25A25	114789	broad.mit.edu	37	chr9	130863479	130863479	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctgaggctggtgtttaaGagtttggacaaaaagaatga	15	10	13	3	0	0	4	0	2	0	2	0	5	0	5	0	3	1	4	0	3	5	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:130863479G>C	ENST00000373066.5	+	2	731	c.324G>C	c.(322-324)aaG>aaC	p.K108N	SLC25A25_ENST00000373069.5_Missense_Mutation_p.K122N|SLC25A25_ENST00000373068.2_Missense_Mutation_p.K122N|SLC25A25_ENST00000373064.5_Missense_Mutation_p.K88N|SLC25A25_ENST00000433501.1_5'UTR|SLC25A25_ENST00000432073.2_Missense_Mutation_p.K108N	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	88	EF-hand 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TGGTGTTTAAGAGTTTGGACA	0.512													13	130					0	0	0	0	C	130863479	G	C	130863479	3	2	272	1	0	0	0	0	1	0	0	0	14576	933	33	2	758	2	SLC25A25	9	130863479	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	2873283	130863479	10349952	90	48899											
GFI1B	8328	broad.mit.edu	37	chr9	135862790	135862790	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caggaccagaacttggccagGatggccccggcaccaggtac	10	4	13	14	1	0	1	0	0	0	1	0	3	0	3	5	6	2	2	5	6	2	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:135862790G>C	ENST00000339463.3	+	7	1041	c.222G>C	c.(220-222)agG>agC	p.R74S	GFI1B_ENST00000534944.1_Missense_Mutation_p.R74S|GFI1B_ENST00000450530.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372123.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372122.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372124.1_Missense_Mutation_p.R74S			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	74					cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		ACTTGGCCAGGATGGCCCCGG	0.617													10	35					0	0	0	0	C	135862790	G	C	135862790	3	2	272	1	0	0	0	0	1	0	0	0	6391	1165	41	2	228	2	GFI1B	9	135862790	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	4999311	135862790	5350641	91	48900											
NOTCH1	4851	broad.mit.edu	37	chr9	139402819	139402820	+	Frame_Shift_Del	DEL	CA	CA	-																															gttcttgcagggcgaggagtCacaccagtgcacaaggttct																										TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:139402819_139402820delCA	ENST00000277541.6	-	20	3264_3265	c.3189_3190delTG	c.(3187-3192)tgacfs	p.CD1063fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1063	EGF-like 28.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCGAGGAGTCACACCAGTGCA	0.658			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			7	237	---	---	---	---					-	139402820	CA	-	139402819	7	5	272	1	0	1	0	1	0	0	0	0	10617	826	29	0	4537	0	NOTCH1	9	139402819	Frame_Shift_Del	DEL	CA	TCGA-CV-7089-01A-11D-2012-08	3540029	139402819	1810612	92	48901											
NOTCH1	4851	broad.mit.edu	37	chr9	139412690	139412690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagggttggtgtcgcagttgGagccctcgttacaggggttg	5	11	17	8	2	0	0	0	0	0	0	2	1	0	1	1	5	2	5	1	5	1	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:139412690G>A	ENST00000277541.6	-	7	1229	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	385	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCGCAGTTGGAGCCCTCGTT	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			7	9					0	0	0	0	A	139412690	G	A	139412690	3	1	272	1	0	0	0	0	1	0	0	0	10617	1174	41	2	6625	2	NOTCH1	9	139412690	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	9871	139412690	1800741	93	48902											
GPR158	57512	broad.mit.edu	37	chr10	25701358	25701358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagccctgtgtatgctgctcGacttcgttagcatgctggtg	6	13	12	10	2	0	0	0	0	0	0	2	1	0	0	1	1	5	6	1	1	3	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:25701358G>A	ENST00000376351.3	+	4	1650	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	431						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TATGCTGCTCGACTTCGTTAG	0.488													8	175					0	0	0	0	A	25701358	G	A	25701358	3	1	272	1	0	0	0	0	1	0	0	0	6712	1058	37	1	1305	1	GPR158	10	25701358	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08		25701358	109833389	94	48903											
ZNF33B	7582	broad.mit.edu	37	chr10	43089160	43089160	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccacatgcattacactgaTagggtttctcccctgtatgt	8	14	7	12	0	1	1	0	1	1	0	3	1	2	1	3	1	2	3	3	1	3	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:43089160T>C	ENST00000359467.3	-	5	1352	c.1238A>G	c.(1237-1239)tAt>tGt	p.Y413C	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	413						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ATTACACTGATAGGGTTTCTC	0.423													3	105					0	0	0	0	C	43089160	T	C	43089160	3	2	272	1	0	0	0	0	1	0	0	0	17950	1406	49	5	1102	5	ZNF33B	10	43089160	Missense_Mutation	SNP	T	TCGA-CV-7089-01A-11D-2012-08	17387802	43089160	92445587	95	48904											
PCDH15	65217	broad.mit.edu	37	chr10	55955577	55955577	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgtaaaatatggactttGattgttttcatccagtattt	11	19	6	5	0	1	1	1	1	0	0	2	2	2	2	1	1	0	3	1	1	4	9			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:55955577G>C	ENST00000409834.1	-	0	558				PCDH15_ENST00000414778.1_Missense_Mutation_p.Q396E|PCDH15_ENST00000361849.3_Missense_Mutation_p.Q391E|PCDH15_ENST00000373955.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q369E|PCDH15_ENST00000320301.6_Missense_Mutation_p.Q391E|PCDH15_ENST00000395446.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395440.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q369E|PCDH15_ENST00000373965.2_Missense_Mutation_p.Q391E|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q354E			Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TATGGACTTTGATTGTTTTCA	0.393										HNSCC(58;0.16)			6	47					0	0	0	0	C	55955577	G	C	55955577	1	2	272	1	0	0	0	0	0	0	0	0	11582	1299	45	2		2	PCDH15	10	55955577	Translation_Start_Site	SNP	G	TCGA-CV-7089-01A-11D-2012-08	12866417	55955577	79579170	96	48905											
ZWINT	11130	broad.mit.edu	37	chr10	58118574	58118574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccgaacttacctctgcagCttgtcccgctcctgttctgc	4	13	7	17	2	2	0	0	0	2	0	5	1	5	0	4	0	5	4	4	0	2	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:58118574C>G	ENST00000373944.3	-	6	653	c.615G>C	c.(613-615)aaG>aaC	p.K205N	ZWINT_ENST00000318387.2_Missense_Mutation_p.K85N|ZWINT_ENST00000395405.1_Missense_Mutation_p.K205N|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000361148.6_Intron			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	205					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						ACCTCTGCAGCTTGTCCCGCT	0.517													20	138					0	0	0	0	G	58118574	C	G	58118574	3	3	272	1	0	0	0	0	1	0	0	0	18340	796	28	4	230	4	ZWINT	10	58118574	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	2162997	58118574	77416173	97	48906											
DLG5	9231	broad.mit.edu	37	chr10	79570931	79570931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcgatgacagatggatgctCcggggtggtggtgccactgc	6	9	17	9	2	0	2	0	1	0	1	2	4	1	3	2	5	3	1	2	5	0	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:79570931C>G	ENST00000372391.2	-	23	4389	c.4384G>C	c.(4384-4386)Gag>Cag	p.E1462Q	DLG5_ENST00000372388.2_Missense_Mutation_p.E1122Q|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1462					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GATGGATGCTCCGGGGTGGTG	0.637													14	79					0	0	0	0	G	79570931	C	G	79570931	3	3	272	1	0	0	0	0	1	0	0	0	4595	864	30	2	1415	2	DLG5	10	79570931	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	21452357	79570931	55963816	98	48907											
GRID1	2894	broad.mit.edu	37	chr10	87966143	87966143	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcgctgtcgtagaacatGacgaacttctgccagcgcag	10	9	10	12	4	1	2	0	1	1	1	3	3	1	2	1	0	5	3	1	0	4	3	rs61744114		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:87966143G>T	ENST00000327946.7	-	3	583	c.498C>A	c.(496-498)gtC>gtA	p.V166V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	166						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CGTAGAACATGACGAACTTCT	0.622										Multiple Myeloma(13;0.14)			11	39					3.03607e-14	5.84669e-14	1	0	T	87966143	G	T	87966143	2	4	272	1	0	0	0	0	0	0	0	1	6821	1277	45	2		2	GRID1	10	87966143	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	8395212	87966143	47568604	99	48908											
SEC31B	25956	broad.mit.edu	37	chr10	102249138	102249138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtaattggtgctgggggCataaatgtctctggcagcta	9	11	14	7	0	1	0	0	0	1	0	2	0	1	0	0	4	2	6	0	4	4	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:102249138C>T	ENST00000370345.3	-	23	3139	c.3042G>A	c.(3040-3042)atG>atA	p.M1014I		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1014	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTGCTGGGGGCATAAATGTCT	0.527													9	43					0	0	0	0	T	102249138	C	T	102249138	3	4	272	1	0	0	0	0	1	0	0	0	14086	710	25	4	513	4	SEC31B	10	102249138	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	14282995	102249138	33285609	100	48909											
RAG1	5896	broad.mit.edu	37	chr11	36597850	36597850	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acaccactggttgtacacctCcaaatacctccagaagttta	13	10	5	13	0	0	1	0	0	0	1	2	1	2	1	5	1	2	3	5	1	5	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:36597850C>G	ENST00000299440.5	+	2	3108	c.2996C>G	c.(2995-2997)tCc>tGc	p.S999C		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	999					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGTACACCTCCAAATACCTC	0.448									Familial Hemophagocytic Lymphohistiocytosis				14	73					0	0	0	0	G	36597850	C	G	36597850	3	3	272	1	0	0	0	0	1	0	0	0	13085	855	30	2	2998	2	RAG1	11	36597850	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08		36597850	98408666	101	48910											
OR5F1	338674	broad.mit.edu	37	chr11	55761664	55761664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgcagcaaaagccccGgctgccatttttaggtagac	11	8	9	13	1	0	1	0	0	0	1	0	1	0	1	4	2	5	4	4	2	5	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:55761664G>A	ENST00000278409.1	-	1	437	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAAAGCCCCGGCTGCCATTT	0.502													7	53					0	0	0	0	A	55761664	G	A	55761664	2	1	272	1	0	0	0	0	0	0	0	1	11229	1103	39	1		1	OR5F1	11	55761664	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	19163814	55761664	79244852	102	48911											
FAM111B	374393	broad.mit.edu	37	chr11	58891901	58891901	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagagtatctactcagccCtgagtgctaatgactatttc	10	12	9	10	1	2	3	1	2	1	1	3	4	2	3	1	0	3	2	1	0	4	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:58891901C>T	ENST00000343597.3	+	4	522	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	FAM111B_ENST00000529618.1_Silent_p.L81L|FAM111B_ENST00000411426.1_Silent_p.L81L	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	111							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CTACTCAGCCCTGAGTGCTAA	0.343													9	48					0	0	0	0	T	58891901	C	T	58891901	2	4	272	1	0	0	0	0	0	0	0	1	5441	680	24	4		4	FAM111B	11	58891901	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08	3130237	58891901	76114615	103	48912											
OR4D6	219983	broad.mit.edu	37	chr11	59224763	59224763	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccactttgctggtggggcAgatatttttttcctctctgt	4	19	9	9	0	1	1	0	0	1	1	4	1	3	1	2	3	1	2	2	3	1	6			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:59224763A>G	ENST00000300127.2	+	1	353	c.330A>G	c.(328-330)gcA>gcG	p.A110A		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CTGGTGGGGCAGATATTTTTT	0.488													23	163					0	0	0	0	G	59224763	A	G	59224763	2	3	272	1	0	0	0	0	0	0	0	1	11129	175	7	5		5	OR4D6	11	59224763	Silent	SNP	A	TCGA-CV-7089-01A-11D-2012-08	332862	59224763	75781753	104	48913											
CPSF7	79869	broad.mit.edu	37	chr11	61196678	61196678	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaactcctcgtcagcataTatatcaatcaagtccactcc	12	12	4	13	1	3	1	3	1	0	0	7	1	6	1	3	0	2	1	3	0	6	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:61196678T>C	ENST00000340437.4	-	2	239	c.159A>G	c.(157-159)atA>atG	p.I53M	CPSF7_ENST00000448745.1_Missense_Mutation_p.I10M|CPSF7_ENST00000439958.3_Missense_Mutation_p.I10M|CPSF7_ENST00000394888.4_Missense_Mutation_p.I10M|CPSF7_ENST00000541963.1_Missense_Mutation_p.I10M	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	10	Poly-Pro.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CGTCAGCATATATATCAATCA	0.483													30	162					0	0	0	0	C	61196678	T	C	61196678	3	2	272	1	0	0	0	0	1	0	0	0	3860	1396	49	5	1417	5	CPSF7	11	61196678	Missense_Mutation	SNP	T	TCGA-CV-7089-01A-11D-2012-08	1971915	61196678	73809838	105	48914											
SCGB1D1	10648	broad.mit.edu	37	chr11	61957758	61957758	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcagaataagccaccaTgaggctgtcggtgtgtctcc	10	8	11	12	1	1	2	0	1	1	1	3	2	1	2	3	2	2	2	3	2	2	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:61957758T>C	ENST00000306238.3	+	1	71	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	1						extracellular space	binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						TAAGCCACCATGAGGCTGTCG	0.577													3	57					0	0	0	0	C	61957758	T	C	61957758	1	2	272	1	0	0	0	0	0	0	0	0	13982	1464	51	5		5	SCGB1D1	11	61957758	Translation_Start_Site	SNP	T	TCGA-CV-7089-01A-11D-2012-08	761080	61957758	73048758	106	48915											
NAALADL1	10004	broad.mit.edu	37	chr11	64813736	64813736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaagctgcggagtgtctCactgtagtcactgactttga	9	11	12	9	1	2	2	2	2	1	0	3	4	2	4	0	2	2	2	0	2	2	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:64813736C>T	ENST00000358658.3	-	15	1807	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000356632.3_Missense_Mutation_p.E559K|NAALADL1_ENST00000355721.3_Missense_Mutation_p.E553K|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000340252.4_Missense_Mutation_p.E645K|NAALADL1_ENST00000355369.2_3'UTR	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	594					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CGGAGTGTCTCACTGTAGTCA	0.612													12	50					0	0	0	0	T	64813736	C	T	64813736	3	4	272	1	0	0	0	0	1	0	0	0	10199	835	29	2	458	2	NAALADL1	11	64813736	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	2855978	64813736	70192780	107	48916											
ALDH3B2	222	broad.mit.edu	37	chr11	67431887	67431887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgctgttggagaaggCgtacagggccaggggcttct	6	9	17	9	1	1	1	0	0	1	1	1	2	1	1	1	6	2	5	1	6	2	3	rs147016371	byFrequency	TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:67431887C>T	ENST00000349015.3	-	8	1291	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.A285T	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	285					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TTGGAGAAGGCGTACAGGGCC	0.637													15	124					0	0	0	0	T	67431887	C	T	67431887	3	4	272	1	0	0	0	0	1	0	0	0	500	768	27	1	316	1	ALDH3B2	11	67431887	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	2618151	67431887	67574629	108	48917											
ETS1	2113	broad.mit.edu	37	chr11	128359290	128359290	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagagggctgctccattcaTacagaacttctggaagtcta	11	10	10	10	0	3	2	1	0	2	2	4	3	4	3	1	2	3	3	1	2	4	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:128359290T>C	ENST00000392668.3	-	5	498	c.430A>G	c.(430-432)Atg>Gtg	p.M144V	ETS1_ENST00000531611.1_Missense_Mutation_p.M100V|ETS1_ENST00000319397.5_Missense_Mutation_p.M100V|ETS1_ENST00000526145.1_Missense_Mutation_p.M100V|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000345075.4_Missense_Mutation_p.M100V	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	100					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCTCCATTCATACAGAACTTC	0.532													18	139					0	0	0	0	C	128359290	T	C	128359290	3	2	272	1	0	0	0	0	1	0	0	0	5313	1406	49	5	1051	5	ETS1	11	128359290	Missense_Mutation	SNP	T	TCGA-CV-7089-01A-11D-2012-08	60927403	128359290	6647226	109	48918											
NTM	50863	broad.mit.edu	37	chr11	132016253	132016253	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatgctgggaatgacaagtGgtgcctggatcctcgcgtgg	7	10	15	9	2	0	1	0	1	0	0	2	3	1	3	2	4	2	1	2	4	3	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:132016253G>A	ENST00000374786.1	+	2	724	c.245G>A	c.(244-246)tGg>tAg	p.W82*	NTM_ENST00000427481.2_Nonsense_Mutation_p.W73*|NTM_ENST00000539799.1_Nonsense_Mutation_p.W82*|NTM_ENST00000374791.3_Nonsense_Mutation_p.W82*|NTM_ENST00000425719.2_Nonsense_Mutation_p.W82*|NTM_ENST00000374784.1_Nonsense_Mutation_p.W82*	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	82	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AATGACAAGTGGTGCCTGGAT	0.567													14	61					0	0	0	0	A	132016253	G	A	132016253	4	1	272	1	0	0	0	0	0	1	0	0	10770	1357	47	4	337	4	NTM	11	132016253	Nonsense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	3656963	132016253	2990263	110	48919											
HDAC7	51564	broad.mit.edu	37	chr12	48188581	48188581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagcggggcctctggcctCaggctgcccatggcccagct	5	6	15	15	1	2	0	1	0	1	0	2	1	2	1	4	6	3	2	4	6	0	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:48188581C>T	ENST00000080059.7	-	12	1419	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	HDAC7_ENST00000354334.3_Missense_Mutation_p.E437K|HDAC7_ENST00000380610.4_Missense_Mutation_p.E491K|HDAC7_ENST00000552960.1_Missense_Mutation_p.E457K|HDAC7_ENST00000427332.2_Missense_Mutation_p.E435K	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	435	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCTCTGGCCTCAGGCTGCCCA	0.657													11	68					0	0	0	0	T	48188581	C	T	48188581	3	4	272	1	0	0	0	0	1	0	0	0	7062	835	29	2	1615	2	HDAC7	12	48188581	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08		48188581	85663314	111	48920											
C12orf54	121273	broad.mit.edu	37	chr12	48888620	48888620	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttgatgaccccaaagttGagaagattgcagttcagctc	11	11	9	10	0	1	4	1	3	0	2	3	5	2	4	3	0	2	4	3	0	2	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:48888620G>A	ENST00000314014.2	+	8	413	c.282G>A	c.(280-282)ttG>ttA	p.L94L	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Silent_p.L94L	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	94										endometrium(1)|large_intestine(4)	5						CCCCAAAGTTGAGAAGATTGC	0.483													11	120					0	0	0	0	A	48888620	G	A	48888620	2	1	272	1	0	0	0	0	0	0	0	1	1711	1281	45	2		2	C12orf54	12	48888620	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	700039	48888620	84963275	112	48921											
ADCY6	112	broad.mit.edu	37	chr12	49165584	49165584	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacatagaactcagagaagTtggcaatggaggcaaacata	17	6	10	8	0	1	2	1	0	0	2	1	4	1	3	1	3	2	3	1	3	6	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:49165584T>C	ENST00000307885.4	-	18	3654	c.2960A>G	c.(2959-2961)aAc>aGc	p.N987S	ADCY6_ENST00000357869.3_Missense_Mutation_p.N934S|ADCY6_ENST00000550422.1_Missense_Mutation_p.N934S	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	987					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTCAGAGAAGTTGGCAATGGA	0.537													9	56					0	0	0	0	C	49165584	T	C	49165584	3	2	272	1	0	0	0	0	1	0	0	0	298	1725	60	5	562	5	ADCY6	12	49165584	Missense_Mutation	SNP	T	TCGA-CV-7089-01A-11D-2012-08	276964	49165584	84686311	113	48922											
ACVRL1	94	broad.mit.edu	37	chr12	52309043	52309043	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacatgacctcccgcaactcGagcacgcagctgtggctcat	9	7	10	15	3	1	1	1	1	0	0	3	3	2	1	2	1	3	5	2	1	1	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:52309043G>A	ENST00000550683.1	+	6	950	c.849G>A	c.(847-849)tcG>tcA	p.S283S	ACVRL1_ENST00000419526.2_Silent_p.S95S|ACVRL1_ENST00000388922.4_Silent_p.S269S	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	269	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCCGCAACTCGAGCACGCAGC	0.612													9	68					0	0	0	0	A	52309043	G	A	52309043	2	1	272	1	0	0	0	0	0	0	0	1	225	1045	37	1		1	ACVRL1	12	52309043	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	3143459	52309043	81542852	114	48923											
CCT2	10576	broad.mit.edu	37	chr12	69987352	69987352	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcatggctattgagcAtgcagattttgcaggtgtgg	7	14	15	5	0	1	2	1	1	0	1	1	2	1	2	0	4	3	4	0	4	1	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:69987352A>T	ENST00000543146.2	+	10	1282	c.800A>T	c.(799-801)cAt>cTt	p.H267L	CCT2_ENST00000544368.2_Missense_Mutation_p.H314L|CCT2_ENST00000299300.6_Missense_Mutation_p.H314L	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	314					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTATTGAGCATGCAGATTTT	0.358													9	45					0	0	0	0	T	69987352	A	T	69987352	3	4	272	1	0	0	0	0	1	0	0	0	2982	217	8	5	979	5	CCT2	12	69987352	Missense_Mutation	SNP	A	TCGA-CV-7089-01A-11D-2012-08	17678309	69987352	63864543	115	48924											
FGD6	55785	broad.mit.edu	37	chr12	95603436	95603436	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttgggcacacaaatgctGaaggtgatttctttctagac	10	14	10	7	0	2	3	0	2	2	1	2	3	2	3	0	2	1	3	0	2	3	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:95603436G>A	ENST00000343958.4	-	2	1847	c.1624C>T	c.(1624-1626)Cag>Tag	p.Q542*	FGD6_ENST00000549499.1_Nonsense_Mutation_p.Q542*|FGD6_ENST00000546711.1_Nonsense_Mutation_p.Q542*	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	542					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CACAAATGCTGAAGGTGATTT	0.423													10	89					0	0	0	0	A	95603436	G	A	95603436	4	1	272	1	0	0	0	0	0	1	0	0	5882	1299	45	2	2748	2	FGD6	12	95603436	Nonsense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	25616084	95603436	38248459	116	48925											
CRY1	1407	broad.mit.edu	37	chr12	107415889	107415889	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgggaaacacatctgcTggttgtccacgaatcacaaa	13	8	9	11	1	2	0	1	0	1	0	3	2	3	1	2	2	3	2	2	2	3	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:107415889T>C	ENST00000008527.5	-	2	1107	c.240A>G	c.(238-240)ccA>ccG	p.P80P		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	80	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ACACATCTGCTGGTTGTCCAC	0.323													22	127					0	0	0	0	C	107415889	T	C	107415889	2	2	272	1	0	0	0	0	0	0	0	1	3933	1567	55	5		5	CRY1	12	107415889	Silent	SNP	T	TCGA-CV-7089-01A-11D-2012-08	11812453	107415889	26436006	117	48926											
RSRC2	65117	broad.mit.edu	37	chr12	122991393	122991393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaactcaccttaatacccatCaatttcctaaatttgacatt	15	14	1	11	0	2	1	2	1	0	0	3	1	3	1	3	0	2	0	3	0	6	6			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:122991393C>T	ENST00000331738.7	-	9	1258	c.1113G>A	c.(1111-1113)ttG>ttA	p.L371L	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Silent_p.L323L	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	371										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TAATACCCATCAATTTCCTAA	0.368													12	116					0	0	0	0	T	122991393	C	T	122991393	2	4	272	1	0	0	0	0	0	0	0	1	13800	825	29	2		2	RSRC2	12	122991393	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08	15575504	122991393	10860502	118	48927											
NCOR2	9612	broad.mit.edu	37	chr12	124832798	124832798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcttgggggcggccgtctCatgggggggtcctgagctgc	2	8	20	11	3	1	1	1	1	1	0	3	1	2	1	2	6	2	2	2	6	0	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:124832798C>T	ENST00000356219.3	-	30	4083	c.3928G>A	c.(3928-3930)Gag>Aag	p.E1310K	NCOR2_ENST00000429285.2_Missense_Mutation_p.E1293K|NCOR2_ENST00000405201.1_Missense_Mutation_p.E1303K|NCOR2_ENST00000404121.2_Missense_Mutation_p.E864K|NCOR2_ENST00000404621.1_Missense_Mutation_p.E1293K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E1294K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1311					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGGCCGTCTCATGGGGGGGT	0.622											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	61					0	0	0	0	T	124832798	C	T	124832798	3	4	272	1	0	0	0	0	1	0	0	0	10306	835	29	2	3713	2	NCOR2	12	124832798	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	1841405	124832798	9019097	119	48928											
BRCA2	675	broad.mit.edu	37	chr13	32972546	32972546	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcacagaaggcatttcAgccaccaaggagttgtggca	11	7	13	10	0	1	1	1	0	0	1	1	2	1	2	2	4	2	5	2	4	2	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr13:32972546A>G	ENST00000544455.1	+	27	10123	c.9896A>G	c.(9895-9897)cAg>cGg	p.Q3299R	BRCA2_ENST00000380152.3_Missense_Mutation_p.Q3299R	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3299					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGGCATTTCAGCCACCAAGG	0.398			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			3	93					0	0	0	0	G	32972546	A	G	32972546	3	3	272	1	0	0	0	0	1	0	0	0	1507	188	7	5	9998	5	BRCA2	13	32972546	Missense_Mutation	SNP	A	TCGA-CV-7089-01A-11D-2012-08		32972546	82197332	120	48929											
NEK3	4752	broad.mit.edu	37	chr13	52709904	52709904	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtttgaaaagccaagctgaGatcagcattcttaaggatgt	13	12	10	6	0	2	2	1	2	1	1	2	4	2	3	1	1	3	3	1	1	4	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr13:52709904G>C	ENST00000400357.2	-	12	2512	c.1219C>G	c.(1219-1221)Ctc>Gtc	p.L407V	NEK3_ENST00000378101.2_Missense_Mutation_p.L424V|NEK3_ENST00000452082.2_Missense_Mutation_p.L428V|NEK3_ENST00000339406.3_Missense_Mutation_p.L424V			P51956	NEK3_HUMAN	NIMA-related kinase 3	424					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GCCAAGCTGAGATCAGCATTC	0.378													7	39					0	0	0	0	C	52709904	G	C	52709904	3	2	272	1	0	0	0	0	1	0	0	0	10395	942	33	2	262	2	NEK3	13	52709904	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	19737358	52709904	62459974	121	48930											
ZIC5	85416	broad.mit.edu	37	chr13	100617654	100617654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtatcgtccgcacaacttCagggttcccgtaaatttcct	9	13	7	12	3	1	0	1	0	0	0	5	0	4	0	3	1	1	4	3	1	4	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr13:100617654C>T	ENST00000267294.4	-	2	2202	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	657					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGCACAACTTCAGGGTTCCCG	0.478													13	69					0	0	0	0	T	100617654	C	T	100617654	3	4	272	1	0	0	0	0	1	0	0	0	17777	835	29	2	26	2	ZIC5	13	100617654	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	47907750	100617654	14552224	122	48931											
OR4K15	81127	broad.mit.edu	37	chr14	20443780	20443780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatcattctcgggtgacaGaatttgtgttgctgggactg	9	13	12	7	1	2	2	1	1	1	1	3	3	2	3	0	2	1	2	0	2	2	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr14:20443780G>A	ENST00000305051.5	+	1	178	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCGGGTGACAGAATTTGTGTT	0.398													12	101					0	0	0	0	A	20443780	G	A	20443780	3	1	272	1	0	0	0	0	1	0	0	0	11141	943	33	2	105	2	OR4K15	14	20443780	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08		20443780	86905760	123	48932											
DAAM1	23002	broad.mit.edu	37	chr14	59792758	59792758	+	Frame_Shift_Del	DEL	T	T	-																															catagtgaagcttacccgcaTttcatgtccatcctgcacca																										TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr14:59792758delT	ENST00000395125.1	+	9	1160	c.1137delT	c.(1135-1137)cafs	p.H379fs	DAAM1_ENST00000351081.1_Frame_Shift_Del_p.H379fs|DAAM1_ENST00000360909.3_Frame_Shift_Del_p.H379fs	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	379	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTTACCCGCATTTCATGTCCA	0.443													7	50	---	---	---	---					-	59792758	T	-	59792758	7	5	272	1	0	1	0	1	0	0	0	0	4248	1490	52	0	1171	0	DAAM1	14	59792758	Frame_Shift_Del	DEL	T	TCGA-CV-7089-01A-11D-2012-08	39348978	59792758	47556782	124	48933											
SYNE2	23224	broad.mit.edu	37	chr14	64564717	64564717	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgagtttgaaccagagaaaAgaagacctgttggtggactt	13	10	12	6	0	0	5	0	2	0	3	0	7	0	6	2	2	1	2	2	2	4	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr14:64564717A>G	ENST00000357395.3	+	63	12458	c.1314A>G	c.(1312-1314)aaA>aaG	p.K438K	SYNE2_ENST00000344113.4_Silent_p.K4053K|SYNE2_ENST00000555002.1_Silent_p.K687K|SYNE2_ENST00000554584.1_Silent_p.K4086K|SYNE2_ENST00000394768.2_Silent_p.K438K|SYNE2_ENST00000358025.3_Silent_p.K4053K|ESR2_ENST00000542956.1_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4053					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAGAGAAAAGAAGACCTGT	0.448													11	81					0	0	0	0	G	64564717	A	G	64564717	2	3	272	1	0	0	0	0	0	0	0	1	15537	69	3	5		5	SYNE2	14	64564717	Silent	SNP	A	TCGA-CV-7089-01A-11D-2012-08	4771959	64564717	42784823	125	48934											
CEP152	22995	broad.mit.edu	37	chr15	49054667	49054667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccccttgatggctatgtccTtctcttgttctaagttttgc	4	18	7	12	0	2	1	0	1	2	0	4	1	3	1	3	1	1	3	3	1	2	8			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr15:49054667T>C	ENST00000380950.2	-	18	2670	c.2483A>G	c.(2482-2484)aAg>aGg	p.K828R	CEP152_ENST00000325747.5_Missense_Mutation_p.K735R|CEP152_ENST00000399334.3_Missense_Mutation_p.K828R	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	828					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GGCTATGTCCTTCTCTTGTTC	0.373													40	70					0	0	0	0	C	49054667	T	C	49054667	3	2	272	1	0	0	0	0	1	0	0	0	3277	1609	56	5	2517	5	CEP152	15	49054667	Missense_Mutation	SNP	T	TCGA-CV-7089-01A-11D-2012-08		49054667	53476725	126	48935											
PIGB	9488	broad.mit.edu	37	chr15	55622047	55622047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggaaggttcaaagtctatGaacaggtaagaaaaattatt	17	12	9	3	0	2	2	1	1	1	1	2	3	2	3	0	3	1	2	0	3	8	6			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr15:55622047G>A	ENST00000164305.5	+	5	939	c.648G>A	c.(646-648)atG>atA	p.M216I	PIGB_ENST00000539642.1_Missense_Mutation_p.M21I	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	216					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CAAAGTCTATGAACAGGTAAG	0.308													23	53					0	0	0	0	A	55622047	G	A	55622047	3	1	272	1	0	0	0	0	1	0	0	0	11957	1290	45	2	666	2	PIGB	15	55622047	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	6567380	55622047	46909345	127	48936											
VPS13C	54832	broad.mit.edu	37	chr15	62256970	62256970	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttagcaacacttatgctttGatcatcagatggaataatgg	13	13	8	7	0	2	2	2	1	0	1	2	3	2	3	0	2	3	2	0	2	5	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr15:62256970G>C	ENST00000261517.5	-	31	3215	c.3142C>G	c.(3142-3144)Caa>Gaa	p.Q1048E	VPS13C_ENST00000249837.3_Missense_Mutation_p.Q1005E|VPS13C_ENST00000395898.3_Missense_Mutation_p.Q1005E|VPS13C_ENST00000395896.4_Missense_Mutation_p.Q1048E	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1048					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTATGCTTTGATCATCAGAT	0.328													22	57					0	0	0	0	C	62256970	G	C	62256970	3	2	272	1	0	0	0	0	1	0	0	0	17287	1299	45	2	8367	2	VPS13C	15	62256970	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	6634923	62256970	40274422	128	48937											
HCN4	10021	broad.mit.edu	37	chr15	73614875	73614875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcaggcctggccccaggttCcctctggggtccagcagtca	5	8	12	16	0	3	0	2	0	1	0	5	0	5	0	5	5	1	2	5	5	0	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr15:73614875C>T	ENST00000261917.3	-	8	4552	c.3559G>A	c.(3559-3561)Gaa>Aaa	p.E1187K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1187					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCCCCAGGTTCCCTCTGGGGT	0.582													5	15					0	0	0	0	T	73614875	C	T	73614875	3	4	272	1	0	0	0	0	1	0	0	0	7049	864	30	2	56	2	HCN4	15	73614875	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	11357905	73614875	28916517	129	48938											
TSC2	7249	broad.mit.edu	37	chr16	2098710	2098710	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccaaatcccaggtctgcaGagggtaaacagacggagttt	12	7	13	9	1	1	2	0	0	1	2	2	3	2	3	2	4	2	3	2	4	3	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr16:2098710G>C	ENST00000219476.3	+	2	724	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	TSC2_ENST00000401874.2_Missense_Mutation_p.E32Q|TSC2_ENST00000353929.4_Missense_Mutation_p.E32Q|TSC2_ENST00000439673.2_Missense_Mutation_p.E32Q|TSC2_ENST00000568454.1_Missense_Mutation_p.E43Q|TSC2_ENST00000350773.4_Missense_Mutation_p.E32Q|TSC2_ENST00000382538.6_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	32	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGTCTGCAGAGGGTAAACA	0.502			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				9	89					0	0	0	0	C	2098710	G	C	2098710	3	2	272	1	0	0	0	0	1	0	0	0	16701	943	33	2	96	2	TSC2	16	2098710	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08		2098710	88256043	130	48939											
PDXDC1	23042	broad.mit.edu	37	chr16	15130131	15130131	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaccggagagcttaagatGagactcattgtgtggtttga	11	11	14	5	1	1	4	1	2	0	3	1	7	1	5	1	3	1	2	1	3	1	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr16:15130131G>A	ENST00000396410.4	+	23	2463	c.2366G>A	c.(2365-2367)tGa>tAa	p.*789*	PDXDC1_ENST00000447912.2_Silent_p.*698*|PDXDC1_ENST00000569715.1_Silent_p.*762*|PDXDC1_ENST00000563679.1_Silent_p.*807*|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000450288.2_Silent_p.*761*|PDXDC1_ENST00000325823.7_Silent_p.*774*	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	0					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGCTTAAGATGAGACTCATTG	0.478													11	85					0	0	0	0	A	15130131	G	A	15130131	2	1	272	1	0	0	0	0	0	0	0	1	11767	1285	45	2		2	PDXDC1	16	15130131	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	13031421	15130131	75224622	131	48940											
ITGAM	3684	broad.mit.edu	37	chr16	31282283	31282283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccttccccagggtgtcctCaagaggatagtgacattgcc	8	9	10	14	0	1	2	1	1	0	1	3	3	3	3	6	2	1	0	6	2	2	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr16:31282283C>G	ENST00000544665.3	+	6	507	c.436C>G	c.(436-438)Caa>Gaa	p.Q146E	ITGAM_ENST00000287497.8_Missense_Mutation_p.Q146E	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	146					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGGTGTCCTCAAGAGGATAG	0.453													42	216					0	0	0	0	G	31282283	C	G	31282283	3	3	272	1	0	0	0	0	1	0	0	0	7940	827	29	2	458	2	ITGAM	16	31282283	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	16152152	31282283	59072470	132	48941											
ADCY7	113	broad.mit.edu	37	chr16	50348223	50348223	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagctggagcggcagcatgcCcacattggtgtcatggtgga	8	8	16	9	1	1	0	1	0	0	0	1	3	1	2	1	5	4	3	1	5	0	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr16:50348223C>A	ENST00000394697.2	+	24	3217	c.2877C>A	c.(2875-2877)gcC>gcA	p.A959A	ADCY7_ENST00000254235.3_Silent_p.A959A			P51828	ADCY7_HUMAN	adenylate cyclase 7	959	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GGCAGCATGCCCACATTGGTG	0.622													5	37					0.00116845	0.00205668	1	0	A	50348223	C	A	50348223	2	1	272	1	0	0	0	0	0	0	0	1	299	610	22	4		4	ADCY7	16	50348223	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08	19065940	50348223	40006530	133	48942											
USP6	9098	broad.mit.edu	37	chr17	5048731	5048731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatctaagaagaaatagatCaattattgtggatttgttcc	14	14	7	6	0	2	3	1	0	1	3	3	4	3	4	2	1	0	1	2	1	6	6			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:5048731C>T	ENST00000574788.1	+	27	4254	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L	USP6_ENST00000332776.4_Missense_Mutation_p.S675L|USP6_ENST00000250066.6_Missense_Mutation_p.S675L|USP6_ENST00000304328.5_Missense_Mutation_p.S358L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	675					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGAAATAGATCAATTATTGTG	0.358			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								9	62					0	0	0	0	T	5048731	C	T	5048731	3	4	272	1	0	0	0	0	1	0	0	0	17182	838	29	2	2094	2	USP6	17	5048731	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08		5048731	76146479	134	48943											
KIAA0753	9851	broad.mit.edu	37	chr17	6510503	6510503	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagaagcaaatatttacctCtgtttttgcatgctgtcaat	11	16	6	8	0	3	1	2	0	1	1	3	1	3	1	1	0	4	4	1	0	5	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:6510503C>G	ENST00000361413.3	-	11	2275	c.1917G>C	c.(1915-1917)caG>caC	p.Q639H	KIAA0753_ENST00000572370.1_Missense_Mutation_p.Q340H|KIAA0753_ENST00000542606.1_Missense_Mutation_p.Q340H|KIAA0753_ENST00000589033.1_Missense_Mutation_p.Q95H	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	639						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ATATTTACCTCTGTTTTTGCA	0.373													20	167					0	0	0	0	G	6510503	C	G	6510503	3	3	272	1	0	0	0	0	1	0	0	0	8242	912	32	2	1022	2	KIAA0753	17	6510503	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	1461772	6510503	74684707	135	48944											
BCL6B	255877	broad.mit.edu	37	chr17	6930392	6930392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgttcgcatccacaccggaGagaagccttaccacgtgggt	10	7	11	13	4	0	1	0	0	0	1	2	3	1	2	4	2	2	2	4	2	2	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:6930392G>C	ENST00000293805.5	+	8	1401	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	437						nucleus	zinc ion binding			skin(1)	1						CCACACCGGAGAGAAGCCTTA	0.632													4	61					0	0	0	0	C	6930392	G	C	6930392	3	2	272	1	0	0	0	0	1	0	0	0	1381	943	33	2	1335	2	BCL6B	17	6930392	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	419889	6930392	74264818	136	48945											
TP53	7157	broad.mit.edu	37	chr17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgtgctgtgactgcttgTagatggccatggcgcggacg	6	11	15	9	3	1	2	1	1	0	1	1	3	1	3	1	3	2	3	1	3	1	2	rs148924904		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACTGCTTGTAGATGGCCAT	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	50					0	0	0	0	C	7578442	T	C	7578442	3	2	272	1	0	0	0	0	1	0	0	0	16476	1638	57	5	810	5	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-CV-7089-01A-11D-2012-08	648050	7578442	73616768	137	48946											
ALOX12B	242	broad.mit.edu	37	chr17	7984278	7984278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacatagctgggcaggccagGaagaaagactcgccagctgc	12	4	13	12	1	0	2	0	0	0	2	1	3	0	3	2	3	3	3	2	3	3	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:7984278G>A	ENST00000319144.4	-	4	711	c.451C>T	c.(451-453)Cct>Tct	p.P151S	AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	151	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGCAGGCCAGGAAGAAAGACT	0.642										Multiple Myeloma(8;0.094)			6	66					0	0	0	0	A	7984278	G	A	7984278	3	1	272	1	0	0	0	0	1	0	0	0	537	1174	41	2	1702	2	ALOX12B	17	7984278	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	405836	7984278	73210932	138	48947											
MYH1	4619	broad.mit.edu	37	chr17	10408257	10408257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaattcttccttcatgttgGccatctccttctctgtctct	5	18	4	14	0	5	0	1	0	4	0	9	0	6	0	3	1	0	1	3	1	1	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:10408257G>T	ENST00000226207.5	-	22	2655	c.2561C>A	c.(2560-2562)gCc>gAc	p.A854D	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	854						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCATGTTGGCCATCTCCTT	0.443													18	98					0.000175454	0.00031598	1	0	T	10408257	G	T	10408257	3	4	272	1	0	0	0	0	1	0	0	0	10099	1203	42	4	3334	4	MYH1	17	10408257	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	2423979	10408257	70786953	139	48948											
AKAP10	11216	broad.mit.edu	37	chr17	19850729	19850729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactgcttacctatgatgtCatttctcattgcttctgtaa	8	17	6	10	0	3	1	2	1	2	0	4	1	3	1	1	0	3	4	1	0	3	6			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:19850729C>T	ENST00000225737.6	-	5	1124	c.967G>A	c.(967-969)Gac>Aac	p.D323N	AKAP10_ENST00000395536.3_Missense_Mutation_p.D323N	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	323	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CCTATGATGTCATTTCTCATT	0.323													12	98					0	0	0	0	T	19850729	C	T	19850729	3	4	272	1	0	0	0	0	1	0	0	0	446	826	29	2	1065	2	AKAP10	17	19850729	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	9442472	19850729	61344481	140	48949											
PIP4K2B	8396	broad.mit.edu	37	chr17	36927505	36927505	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagcaggctgtagtccatGatcttcagctgtgccaagaa	11	9	10	11	0	2	2	1	1	1	1	3	2	3	2	3	1	3	4	3	1	3	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:36927505G>C	ENST00000269554.3	-	8	1308	c.828C>G	c.(826-828)atC>atG	p.I276M		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	276	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TGTAGTCCATGATCTTCAGCT	0.562													8	39					0	0	0	0	C	36927505	G	C	36927505	3	2	272	1	0	0	0	0	1	0	0	0	12009	1280	45	2	434	2	PIP4K2B	17	36927505	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	17076776	36927505	44267705	141	48950											
THRA	7067	broad.mit.edu	37	chr17	38241015	38241022	+	Frame_Shift_Del	DEL	CATCGCAG	CATCGCAG	-																															tccacattgccacagaggccCatcgcagcaccaatgcccag																								rs11545238		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:38241015_38241022delCATCGCAG	ENST00000450525.2	+	6	1014_1021	c.523_530delCATCGCAG	c.(523-531)cfs	p.HRS175fs	THRA_ENST00000264637.4_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000584985.1_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000394121.4_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000546243.1_Frame_Shift_Del_p.HRS175fs	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	175					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CACAGAGGCCCATCGCAGCACCAATGCC	0.606													14	186	---	---	---	---					-	38241022	CATCGCAG	-	38241015	7	5	272	1	0	1	0	1	0	0	0	0	15967	594	21	0	541	0	THRA	17	38241015	Frame_Shift_Del	DEL	CATCGCAG	TCGA-CV-7089-01A-11D-2012-08	1313510	38241015	42954195	142	48951											
KRT39	390792	broad.mit.edu	37	chr17	39122956	39122956	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctggtcccagggaattctGagaacgtggccagctggttg	7	9	14	11	1	1	1	0	1	1	1	2	3	2	2	3	4	2	2	3	4	2	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:39122956G>A	ENST00000355612.2	-	1	188	c.153C>T	c.(151-153)ctC>ctT	p.L51L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	51	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGGGAATTCTGAGAACGTGGC	0.498													41	243					0	0	0	0	A	39122956	G	A	39122956	2	1	272	1	0	0	0	0	0	0	0	1	8528	1277	45	2		2	KRT39	17	39122956	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	881941	39122956	42072254	143	48952											
ITGA3	3675	broad.mit.edu	37	chr17	48148225	48148225	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaaacagctacatgattCagcgcaaggagtgggactta	15	7	12	7	1	1	1	1	1	0	0	1	4	1	4	0	3	4	2	0	3	5	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:48148225C>T	ENST00000320031.8	+	5	1012	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	ITGA3_ENST00000544892.1_Nonsense_Mutation_p.Q3*|ITGA3_ENST00000007722.7_Nonsense_Mutation_p.Q228*	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	228					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTACATGATTCAGCGCAAGGA	0.502													37	229					0	0	0	0	T	48148225	C	T	48148225	4	4	272	1	0	0	0	0	0	1	0	0	7930	827	29	2	700	2	ITGA3	17	48148225	Nonsense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	9025269	48148225	33046985	144	48953											
BZRAP1	9256	broad.mit.edu	37	chr17	56397485	56397485	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctacctgcatggaatccaaGgtagactgttgcaggaaagg	12	8	13	8	0	0	1	0	0	0	1	1	3	1	3	2	4	3	5	2	4	5	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:56397485G>T	ENST00000355701.3	-	12	2349	c.1479C>A	c.(1477-1479)acC>acA	p.T493T	BZRAP1_ENST00000268893.6_Silent_p.T433T|BZRAP1_ENST00000343736.4_Silent_p.T493T	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	493						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGAATCCAAGGTAGACTGTT	0.592													9	47					3.09899e-07	5.76797e-07	1	0	T	56397485	G	T	56397485	2	4	272	1	0	0	0	0	0	0	0	1	1586	987	35	4		4	BZRAP1	17	56397485	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	8249260	56397485	24797725	145	48954											
CCDC47	57003	broad.mit.edu	37	chr17	61838631	61838631	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagcacactcgaccagAacaccacaggttatagatgt	14	7	7	13	1	1	2	1	0	0	2	2	3	1	2	2	1	2	2	2	1	3	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:61838631A>C	ENST00000225726.5	-	5	1010	c.628T>G	c.(628-630)Tct>Gct	p.S210A	CCDC47_ENST00000582252.1_Missense_Mutation_p.S210A|CCDC47_ENST00000403162.3_Missense_Mutation_p.S210A	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	210						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ACTCGACCAGAACACCACAGG	0.433													17	96					0	0	0	0	C	61838631	A	C	61838631	3	2	272	1	0	0	0	0	1	0	0	0	2845	246	9	5	859	5	CCDC47	17	61838631	Missense_Mutation	SNP	A	TCGA-CV-7089-01A-11D-2012-08	5441146	61838631	19356579	146	48955											
CACNG5	27091	broad.mit.edu	37	chr17	64876761	64876761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaacatcggacacatccGtccccaccggacgatactgg	12	5	9	15	4	0	0	0	0	0	0	3	4	2	2	4	3	3	0	4	3	3	1	rs145214481		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:64876761G>A	ENST00000533854.1	+	4	608	c.371G>A	c.(370-372)cGt>cAt	p.R124H	CACNG5_ENST00000307139.3_Missense_Mutation_p.R124H|CACNG5_ENST00000169565.3_Missense_Mutation_p.R124H			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	124					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GGACACATCCGTCCCCACCGG	0.458													20	129					0	0	0	0	A	64876761	G	A	64876761	3	1	272	1	0	0	0	0	1	0	0	0	2585	1145	40	1	381	1	CACNG5	17	64876761	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	3038130	64876761	16318449	147	48956											
RAC3	5881	broad.mit.edu	37	chr17	79991361	79991361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccacacgcccatcctcCtggtgggcaccaagctggac	7	5	10	19	1	0	0	0	0	0	0	2	1	2	1	6	3	1	2	6	3	1	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:79991361C>T	ENST00000306897.4	+	5	472	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	112					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCCCATCCTCCTGGTGGGCAC	0.672													4	47					0	0	0	0	T	79991361	C	T	79991361	2	4	272	1	0	0	0	0	0	0	0	1	13058	680	24	4		4	RAC3	17	79991361	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08	15114600	79991361	1203849	148	48957											
RAC3	5881	broad.mit.edu	37	chr17	79991599	79991599	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgaaatacctggagtgctCagccctgacccagcggggcc	8	7	13	13	1	1	2	1	2	0	0	1	3	1	3	4	3	4	1	4	3	2	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:79991599C>G	ENST00000306897.4	+	6	611	c.473C>G	c.(472-474)tCa>tGa	p.S158*		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	158					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGGAGTGCTCAGCCCTGACC	0.657													9	43					0	0	0	0	G	79991599	C	G	79991599	4	3	272	1	0	0	0	0	0	1	0	0	13058	838	29	2	495	2	RAC3	17	79991599	Nonsense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	238	79991599	1203611	149	48958											
CTAGE1	64693	broad.mit.edu	37	chr18	19995815	19995815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagccagggccagttgcttCattttcagcggggagagatg	10	9	14	8	1	2	1	2	0	0	1	2	3	2	2	2	3	3	2	2	3	1	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr18:19995815C>T	ENST00000391403.2	-	1	2063	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	654						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CCAGTTGCTTCATTTTCAGCG	0.453													24	244					0	0	0	0	T	19995815	C	T	19995815	3	4	272	1	0	0	0	0	1	0	0	0	4024	835	29	2	281	2	CTAGE1	18	19995815	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08		19995815	58081433	150	48959											
AP3D1	8943	broad.mit.edu	37	chr19	2110168	2110168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagggtccccttgagcttCtgcgccatgacgatgctctg	6	10	12	13	2	2	2	0	2	2	0	3	4	3	2	3	1	3	2	3	1	0	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:2110168C>T	ENST00000355272.6	-	28	3437	c.3231G>A	c.(3229-3231)caG>caA	p.Q1077Q	AP3D1_ENST00000350812.6_Silent_p.Q846Q|AP3D1_ENST00000345016.5_Silent_p.Q1015Q|AP3D1_ENST00000356926.4_Silent_p.Q974Q	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1015					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CCTTGAGCTTCTGCGCCATGA	0.642													9	39					0	0	0	0	T	2110168	C	T	2110168	2	4	272	1	0	0	0	0	0	0	0	1	747	912	32	2		2	AP3D1	19	2110168	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08		2110168	57018815	151	48960											
ZNF77	58492	broad.mit.edu	37	chr19	2934164	2934164	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttacactgacagggtttctCtccagtgtgcgtcctcacgt	6	14	9	12	2	2	1	1	1	1	0	5	1	4	1	2	1	2	1	2	1	1	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:2934164C>G	ENST00000314531.4	-	4	1053	c.961G>C	c.(961-963)Gag>Cag	p.E321Q		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGTTTCTCTCCAGTGTGC	0.458													9	91					0	0	0	0	G	2934164	C	G	2934164	3	3	272	1	0	0	0	0	1	0	0	0	18236	922	32	2	680	2	ZNF77	19	2934164	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	823996	2934164	56194819	152	48961											
SAFB	6294	broad.mit.edu	37	chr19	5667066	5667066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatgtccagcattacccaGaacgccatggaggaccagag	12	6	12	11	1	0	3	0	1	0	2	1	5	1	5	4	2	3	1	4	2	2	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:5667066G>A	ENST00000292123.5	+	18	2451	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K	SAFB_ENST00000538656.1_Missense_Mutation_p.E624K|SAFB_ENST00000588852.1_Missense_Mutation_p.E782K|SAFB_ENST00000433404.1_Missense_Mutation_p.E612K|SAFB_ENST00000592224.1_Missense_Mutation_p.E781K|SAFB_ENST00000454510.1_Missense_Mutation_p.E713K	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	782	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCATTACCCAGAACGCCATGG	0.607													14	113					0	0	0	0	A	5667066	G	A	5667066	3	1	272	1	0	0	0	0	1	0	0	0	13891	943	33	2	2414	2	SAFB	19	5667066	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	2732902	5667066	53461917	153	48962											
CCDC151	115948	broad.mit.edu	37	chr19	11532486	11532486	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatccagctcctttcccgcGaagcggccgtcctcctgcgg	4	8	12	17	5	0	0	0	0	0	0	5	2	5	1	6	3	3	1	6	3	1	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:11532486G>A	ENST00000356392.4	-	11	1536	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	CCDC151_ENST00000586836.1_Silent_p.F292F|CCDC151_ENST00000591179.1_Silent_p.F423F|CCDC151_ENST00000545100.1_Silent_p.F429F	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	483										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CCTTTCCCGCGAAGCGGCCGT	0.662													11	65					0	0	0	0	A	11532486	G	A	11532486	2	1	272	1	0	0	0	0	0	0	0	1	2811	1049	37	1		1	CCDC151	19	11532486	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	5865420	11532486	47596497	154	48963											
MAST1	22983	broad.mit.edu	37	chr19	12951862	12951862	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caacacccccgcccacttctCgtttgcctcctcccgaaggt	6	9	6	20	3	1	0	0	0	1	0	4	1	3	0	6	1	2	1	6	1	2	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:12951862C>G	ENST00000251472.4	+	3	269	c.230C>G	c.(229-231)tCg>tGg	p.S77W	MAST1_ENST00000591495.1_Missense_Mutation_p.S73W	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	77					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCCACTTCTCGTTTGCCTCC	0.632													17	77					0	0	0	0	G	12951862	C	G	12951862	3	3	272	1	0	0	0	0	1	0	0	0	9393	893	31	3	240	3	MAST1	19	12951862	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	1419376	12951862	46177121	155	48964											
GADD45GIP1	90480	broad.mit.edu	37	chr19	13065144	13065144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgcttgcgctccttcttctCtaggtcctggagcagctcct	3	13	10	15	2	2	0	0	0	2	0	6	1	5	1	3	2	3	4	3	2	1	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:13065144C>G	ENST00000316939.1	-	2	570	c.547G>C	c.(547-549)Gag>Cag	p.E183Q		NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	183					cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						TCCTTCTTCTCTAGGTCCTGG	0.627													17	130					0	0	0	0	G	13065144	C	G	13065144	3	3	272	1	0	0	0	0	1	0	0	0	6232	922	32	2	125	2	GADD45GIP1	19	13065144	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	113282	13065144	46063839	156	48965											
CYP4F11	57834	broad.mit.edu	37	chr19	16025612	16025612	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgggagcacaaagtcctgCgtgcaacatcgggagatgac	11	7	13	10	2	1	2	0	1	1	1	3	4	2	3	1	2	4	2	1	2	2	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:16025612C>T	ENST00000326742.7	-	9	1210	c.1209G>A	c.(1207-1209)acG>acA	p.T403T	CYP4F11_ENST00000248041.7_Silent_p.T403T|CYP4F11_ENST00000402119.3_Silent_p.T403T			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	403					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CAAAGTCCTGCGTGCAACATC	0.632													19	106					0	0	0	0	T	16025612	C	T	16025612	2	4	272	1	0	0	0	0	0	0	0	1	4218	755	27	1		1	CYP4F11	19	16025612	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08	2960468	16025612	43103371	157	48966											
GATAD2A	54815	broad.mit.edu	37	chr19	19603492	19603492	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaaaagttgcggcagagtCaaatacaaaaggaagccacc	18	5	10	8	1	1	2	1	1	0	1	1	3	1	3	2	2	3	2	2	2	7	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:19603492C>G	ENST00000404158.1	+	6	923	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E	GATAD2A_ENST00000358713.3_Missense_Mutation_p.Q169E|GATAD2A_ENST00000252577.5_Missense_Mutation_p.Q169E|GATAD2A_ENST00000429563.2_Missense_Mutation_p.Q26E|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000494516.1_Intron|GATAD2A_ENST00000360315.3_Missense_Mutation_p.Q169E			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	169					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GCGGCAGAGTCAAATACAAAA	0.517													5	54					0	0	0	0	G	19603492	C	G	19603492	3	3	272	1	0	0	0	0	1	0	0	0	6309	827	29	2	515	2	GATAD2A	19	19603492	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	3577880	19603492	39525491	158	48967											
ZNF91	7644	broad.mit.edu	37	chr19	23544684	23544684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgagttatcttatgattaGcaagggttgaggaattgcta	12	15	11	3	0	1	3	0	3	1	0	1	4	1	4	0	2	2	4	0	2	7	7			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:23544684G>T	ENST00000300619.7	-	4	1302	c.1097C>A	c.(1096-1098)gCt>gAt	p.A366D	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.A334D	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	366						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTTATGATTAGCAAGGGTTGA	0.348													11	42					6.40141e-05	0.000115821	1	0	T	23544684	G	T	23544684	3	4	272	1	0	0	0	0	1	0	0	0	18293	971	34	4	2482	4	ZNF91	19	23544684	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	3941192	23544684	35584299	159	48968											
ZNF568	374900	broad.mit.edu	37	chr19	37440746	37440746	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaatcagtgtggacaagacTtcagtcataaatttgacctc	13	12	8	8	0	3	2	3	1	0	1	4	3	3	3	1	1	0	1	1	1	4	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:37440746T>G	ENST00000415168.1	+	5	875	c.499T>G	c.(499-501)Ttc>Gtc	p.F167V	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.F231V	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGACAAGACTTCAGTCATAA	0.388													10	57					0	0	0	0	G	37440746	T	G	37440746	3	3	272	1	0	0	0	0	1	0	0	0	18094	1609	56	5	709	5	ZNF568	19	37440746	Missense_Mutation	SNP	T	TCGA-CV-7089-01A-11D-2012-08	13896062	37440746	21688237	160	48969											
SPINT2	10653	broad.mit.edu	37	chr19	38781203	38781203	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaatcctcccctgcccCttggctcaaagggtaagtgg	9	8	12	12	0	1	1	1	0	0	1	3	2	3	1	5	4	1	2	5	4	3	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:38781203C>G	ENST00000301244.7	+	6	1015	c.580C>G	c.(580-582)Ctt>Gtt	p.L194V	CTB-102L5.4_ENST00000591889.1_Silent_p.P71P|SPINT2_ENST00000587090.1_Missense_Mutation_p.L144V|SPINT2_ENST00000454580.3_Missense_Mutation_p.L137V	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	194					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCCCTGCCCCTTGGCTCAAA	0.612													4	25					0	0	0	0	G	38781203	C	G	38781203	3	3	272	1	0	0	0	0	1	0	0	0	15159	681	24	4	602	4	SPINT2	19	38781203	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	1340457	38781203	20347780	161	48970											
FCGBP	8857	broad.mit.edu	37	chr19	40364331	40364331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatcgcagacacagccttCacggcaggccgactcacagc	11	4	10	16	3	2	1	2	0	0	1	3	2	2	1	2	2	3	3	2	2	0	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:40364331C>T	ENST00000221347.6	-	31	14318	c.14311G>A	c.(14311-14313)Gaa>Aaa	p.E4771K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4771	TIL 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACACAGCCTTCACGGCAGGCC	0.652													10	71					0	0	0	0	T	40364331	C	T	40364331	3	4	272	1	0	0	0	0	1	0	0	0	5823	835	29	2	1930	2	FCGBP	19	40364331	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	1583128	40364331	18764652	162	48971											
FCGBP	8857	broad.mit.edu	37	chr19	40366539	40366539	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgcaggagcgagtccagCtggaaaggcagagccacgaa	12	3	16	10	3	0	1	0	0	0	1	1	5	1	3	2	3	4	3	2	3	2	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:40366539C>T	ENST00000221347.6	-	30	13702	c.13695G>A	c.(13693-13695)caG>caA	p.Q4565Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4565	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGAGTCCAGCTGGAAAGGCA	0.677													10	60					0	0	0	0	T	40366539	C	T	40366539	2	4	272	1	0	0	0	0	0	0	0	1	5823	796	28	4		4	FCGBP	19	40366539	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08	2208	40366539	18762444	163	48972											
PLAUR	5329	broad.mit.edu	37	chr19	44160641	44160641	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggctcaccttcttcaccTtcctggatccagtgggtcac	5	12	10	14	0	4	0	3	0	1	0	6	1	6	1	4	4	0	1	4	4	0	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:44160641T>C	ENST00000221264.4	-	4	888	c.462A>G	c.(460-462)gaA>gaG	p.E154E	PLAUR_ENST00000601723.1_Silent_p.E154E|PLAUR_ENST00000339082.3_Silent_p.E154E|PLAUR_ENST00000340093.3_Silent_p.E154E	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	154	UPAR/Ly6 2.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTTCTTCACCTTCCTGGATCC	0.577													23	119					0	0	0	0	C	44160641	T	C	44160641	2	2	272	1	0	0	0	0	0	0	0	1	12095	1606	56	5		5	PLAUR	19	44160641	Silent	SNP	T	TCGA-CV-7089-01A-11D-2012-08	3794102	44160641	14968342	164	48973											
ZNF610	162963	broad.mit.edu	37	chr19	52852486	52852486	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcagggatggctcttcctCaggtaaagtgatattctcgg	9	12	12	8	1	4	1	2	1	2	0	6	2	5	2	1	4	0	2	1	4	3	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:52852486C>G	ENST00000601151.1	+	3	513	c.61C>G	c.(61-63)Cag>Gag	p.Q21E	ZNF610_ENST00000327920.8_Missense_Mutation_p.Q21E|ZNF610_ENST00000403906.3_Missense_Mutation_p.Q21E|ZNF610_ENST00000321287.8_Missense_Mutation_p.Q21E	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGCTCTTCCTCAGGTAAAGTG	0.448													6	34					0	0	0	0	G	52852486	C	G	52852486	3	3	272	1	0	0	0	0	1	0	0	0	18131	827	29	2	63	2	ZNF610	19	52852486	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	8691845	52852486	6276497	165	48974											
NCR1	9437	broad.mit.edu	37	chr19	55421380	55421380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttatctccttttccaggcGacattgagaacaccagcctt	9	13	6	13	1	1	1	0	1	1	1	3	3	2	1	4	1	2	0	4	1	2	6			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:55421380G>A	ENST00000594765.1	+	5	662	c.637G>A	c.(637-639)Gac>Aac	p.D213N	NCR1_ENST00000357397.5_Missense_Mutation_p.D106N|NCR1_ENST00000338835.5_Missense_Mutation_p.D213N|NCR1_ENST00000350790.5_Missense_Mutation_p.D118N|NCR1_ENST00000447255.1_Missense_Mutation_p.D213N|NCR1_ENST00000598576.1_Missense_Mutation_p.D201N|NCR1_ENST00000291890.4_Missense_Mutation_p.D213N			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	213					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TTTTCCAGGCGACATTGAGAA	0.438													23	169					0	0	0	0	A	55421380	G	A	55421380	3	1	272	1	0	0	0	0	1	0	0	0	10307	1058	37	1	655	1	NCR1	19	55421380	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	2568894	55421380	3707603	166	48975											
EPN1	29924	broad.mit.edu	37	chr19	56204351	56204351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacggagcccgacgagttCtctgactttgaccgactccg	8	8	11	14	5	1	2	0	2	1	0	3	7	2	3	3	1	1	1	3	1	0	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:56204351C>A	ENST00000411543.2	+	9	2017	c.1470C>A	c.(1468-1470)ttC>ttA	p.F490L	EPN1_ENST00000085079.7_Missense_Mutation_p.F378L|EPN1_ENST00000270460.6_Missense_Mutation_p.F404L	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	404	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCGACGAGTTCTCTGACTTTG	0.701													13	117					4.3838e-07	8.08198e-07	1	0	A	56204351	C	A	56204351	3	1	272	1	0	0	0	0	1	0	0	0	5223	912	32	2	1583	2	EPN1	19	56204351	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	782971	56204351	2924632	167	48976											
PSMF1	9491	broad.mit.edu	37	chr20	1115772	1115772	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcttcctgcaggacctacaAgaacagtgaggagcttcggt	10	9	12	10	1	0	2	0	1	0	1	2	4	1	4	2	3	5	3	2	3	3	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:1115772A>G	ENST00000335877.6	+	4	550	c.374A>G	c.(373-375)aAg>aGg	p.K125R	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000333082.3_Missense_Mutation_p.K125R|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000246015.4_Missense_Mutation_p.K125R|PSMF1_ENST00000381898.4_Missense_Mutation_p.K37R	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	125					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						AGGACCTACAAGAACAGTGAG	0.552													7	55					0	0	0	0	G	1115772	A	G	1115772	3	3	272	1	0	0	0	0	1	0	0	0	12789	72	3	5	388	5	PSMF1	20	1115772	Missense_Mutation	SNP	A	TCGA-CV-7089-01A-11D-2012-08		1115772	61909748	168	48977											
ASXL1	171023	broad.mit.edu	37	chr20	31022294	31022294	+	Frame_Shift_Del	DEL	A	A	-																															ggtcagcccacttaccagatAtgcccccggatcatccccac																										TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:31022294delA	ENST00000375687.4	+	13	2203	c.1779delA	c.(1777-1779)atfs	p.I593fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.I588fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	593					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.Q592fs*5(1)|p.C594fs*25(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTACCAGATATGCCCCCGGA	0.532			"F, N, Mis"		"MDS, CMML"								11	91	---	---	---	---					-	31022294	A	-	31022294	7	5	272	1	0	1	0	1	0	0	0	0	1070	439	16	0	1835	0	ASXL1	20	31022294	Frame_Shift_Del	DEL	A	TCGA-CV-7089-01A-11D-2012-08	29906522	31022294	32003226	169	48978											
PPP1R16B	26051	broad.mit.edu	37	chr20	37524339	37524339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccacatcaacctggtgaaGatcctcgttcagtagtacgt	10	10	10	11	2	2	2	2	1	0	1	4	2	3	2	3	2	2	3	3	2	4	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:37524339G>C	ENST00000299824.1	+	4	642	c.453G>C	c.(451-453)aaG>aaC	p.K151N	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.K151N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	151					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ACCTGGTGAAGATCCTCGTTC	0.577													5	25					0	0	0	0	C	37524339	G	C	37524339	3	2	272	1	0	0	0	0	1	0	0	0	12442	933	33	2	463	2	PPP1R16B	20	37524339	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	6502045	37524339	25501181	170	48979											
ZNF512B	57473	broad.mit.edu	37	chr20	62597525	62597525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgttcctccctgtggcacGaggtgctttgttctccgacc	4	13	10	14	2	1	0	0	0	1	0	4	2	3	0	4	2	1	4	4	2	0	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:62597525G>A	ENST00000450537.1	-	5	1063	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	ZNF512B_ENST00000369888.1_Missense_Mutation_p.R335C|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R335C			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTGTGGCACGAGGTGCTTTG	0.582													9	62					0	0	0	0	A	62597525	G	A	62597525	3	1	272	1	0	0	0	0	1	0	0	0	18052	1058	37	1	1727	1	ZNF512B	20	62597525	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	25073186	62597525	427995	171	48980											
CHEK2	11200	broad.mit.edu	37	chr22	29121060	29121060	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtatttacaaaggttccaTtgccactgtgatcttctatg	9	16	7	9	0	2	1	0	1	2	0	3	1	3	1	2	1	2	2	2	1	4	7			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:29121060T>C	ENST00000382580.2	-	5	701	c.626A>G	c.(625-627)aAt>aGt	p.N209S	CHEK2_ENST00000404276.1_Missense_Mutation_p.N166S|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.N166S|CHEK2_ENST00000382566.1_Missense_Mutation_p.N166S|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.N166S|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.N166S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.N166S	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	166					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AAAGGTTCCATTGCCACTGTG	0.353			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	76					0	0	0	0	C	29121060	T	C	29121060	3	2	272	1	0	0	0	0	1	0	0	0	3364	1493	52	5	1182	5	CHEK2	22	29121060	Missense_Mutation	SNP	T	TCGA-CV-7089-01A-11D-2012-08		29121060	22183506	172	48981											
SEPT3	55964	broad.mit.edu	37	chr22	42390724	42390724	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcctccctccggtgagCgtggacacagaggaaagcca	10	4	15	12	2	0	2	0	1	0	1	2	5	2	5	4	5	2	0	4	5	1	0			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:42390724C>T	ENST00000396425.3	+	10	1148	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	SEPT3_ENST00000328414.8_Intron|SEPT3_ENST00000396426.3_Intron|SEPT3_ENST00000291236.11_Silent_p.S275S|SEPT3_ENST00000406029.1_Intron	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	0					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CTCCGGTGAGCGTGGACACAG	0.542													11	66					0	0	0	0	T	42390724	C	T	42390724	2	4	272	1	0	0	0	0	0	0	0	1	14152	767	27	1		1	SEPT3	22	42390724	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08	13269664	42390724	8913842	173	48982											
PKDREJ	10343	broad.mit.edu	37	chr22	46652485	46652485	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaaggtaaaccattttcttCccgttgatgtttctggtctt	8	17	7	9	1	3	1	0	1	3	0	4	1	4	1	2	2	1	3	2	2	3	7			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46652485C>T	ENST00000253255.5	-	1	6734	c.6735G>A	c.(6733-6735)ggG>ggA	p.G2245G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2245					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCATTTTCTTCCCGTTGATGT	0.473													10	94					0	0	0	0	T	46652485	C	T	46652485	2	4	272	1	0	0	0	0	0	0	0	1	12042	842	30	2		2	PKDREJ	22	46652485	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08	4261761	46652485	4652081	174	48983			1	76		12	11	2464	N	G_C	1.846652e-25
PKDREJ	10343	broad.mit.edu	37	chr22	46653078	46653078	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaattatcctcataatgtGatctacctgagaaactgcat	15	12	5	9	0	2	2	1	2	1	1	3	3	3	2	2	0	3	1	2	0	6	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46653078G>C	ENST00000253255.5	-	1	6141	c.6142C>G	c.(6142-6144)Cac>Gac	p.H2048D		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2048					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTCATAATGTGATCTACCTGA	0.438													6	59					0	0	0	0	C	46653078	G	C	46653078	3	2	272	1	0	0	0	0	1	0	0	0	12042	1290	45	2	623	2	PKDREJ	22	46653078	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	593	46653078	4651488	175	48984			1	76		12	11	2464	N	G_C	1.846652e-25
PKDREJ	10343	broad.mit.edu	37	chr22	46653873	46653873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggattttagacgagctttCaggaagaaatgttggattca	14	12	11	4	1	2	2	2	0	0	2	2	6	2	5	0	3	1	2	0	3	4	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46653873C>T	ENST00000253255.5	-	1	5346	c.5347G>A	c.(5347-5349)Gaa>Aaa	p.E1783K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1783					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GACGAGCTTTCAGGAAGAAAT	0.423													19	172					0	0	0	0	T	46653873	C	T	46653873	3	4	272	1	0	0	0	0	1	0	0	0	12042	835	29	2	1418	2	PKDREJ	22	46653873	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	795	46653873	4650693	176	48985			1	76		12	11	2464	N	G_C	1.846652e-25
PKDREJ	10343	broad.mit.edu	37	chr22	46653935	46653935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcacgctgtttagccatCtatagatgtcttccagctta	10	13	7	11	1	2	1	0	0	2	1	3	1	3	1	2	0	3	4	2	0	4	6			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46653935C>T	ENST00000253255.5	-	1	5284	c.5285G>A	c.(5284-5286)aGa>aAa	p.R1762K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1762					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTTTAGCCATCTATAGATGTC	0.423													17	115					0	0	0	0	T	46653935	C	T	46653935	3	4	272	1	0	0	0	0	1	0	0	0	12042	913	32	2	1480	2	PKDREJ	22	46653935	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	62	46653935	4650631	177	48986			1	76		12	11	2464	N	G_C	1.846652e-25
PKDREJ	10343	broad.mit.edu	37	chr22	46654045	46654045	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtagtaagacgataaggatCaacagaagggctagaaagat	18	6	12	5	2	1	4	1	0	0	4	1	6	1	5	0	2	1	3	0	2	7	4			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654045C>T	ENST00000253255.5	-	1	5174	c.5175G>A	c.(5173-5175)ttG>ttA	p.L1725L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1725					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGATAAGGATCAACAGAAGGG	0.383													8	52					0	0	0	0	T	46654045	C	T	46654045	2	4	272	1	0	0	0	0	0	0	0	1	12042	825	29	2		2	PKDREJ	22	46654045	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08	110	46654045	4650521	178	48987			1	76		12	11	2464	N	G_C	1.846652e-25
PKDREJ	10343	broad.mit.edu	37	chr22	46654120	46654120	+	Silent	SNP	C	C	T																															gctcttctcttgatcctcttCtttcttttgaatattctgat																										TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654120C>T	ENST00000253255.5	-	1	5099	c.5100G>A	c.(5098-5100)aaG>aaA	p.K1700K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1700					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGATCCTCTTCTTTCTTTTGA	0.418													7	82					0	0	0	0	T	46654120	C	T	46654120	2	4	272	1	0	0	0	0	0	0	0	1	12042	912	32	2		2	PKDREJ	22	46654120	Silent	SNP	C	TCGA-CV-7089-01A-11D-2012-08	75	46654120	4650446	179	48988	382	2	1	76		12	11	2464	N	G_C	1.846652e-25
PKDREJ	10343	broad.mit.edu	37	chr22	46654124	46654124	+	Missense_Mutation	SNP	C	C	T																															ttctcttgatcctcttctttCttttgaatattctgatttca																										TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654124C>T	ENST00000253255.5	-	1	5095	c.5096G>A	c.(5095-5097)aGa>aAa	p.R1699K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1699					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCTCTTCTTTCTTTTGAATAT	0.418													7	87					0	0	0	0	T	46654124	C	T	46654124	3	4	272	1	0	0	0	0	1	0	0	0	12042	913	32	2	1669	2	PKDREJ	22	46654124	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	4	46654124	4650442	180	48989	382	2	1	76		12	11	2464	N	G_C	1.846652e-25
PKDREJ	10343	broad.mit.edu	37	chr22	46654251	46654251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattccatccaacctgatctCagtatatttatacttggttg	10	16	5	10	0	1	1	1	1	1	0	4	1	3	1	3	1	2	2	3	1	5	8			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654251C>T	ENST00000253255.5	-	1	4968	c.4969G>A	c.(4969-4971)Gag>Aag	p.E1657K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1657					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACCTGATCTCAGTATATTTA	0.438													10	80					0	0	0	0	T	46654251	C	T	46654251	3	4	272	1	0	0	0	0	1	0	0	0	12042	835	29	2	1796	2	PKDREJ	22	46654251	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	127	46654251	4650315	181	48990			1	76		12	11	2464	N	G_C	1.846652e-25
PKDREJ	10343	broad.mit.edu	37	chr22	46654407	46654407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagccattctattgacttgtCatagccgtaagtcagtccat	10	13	8	10	1	3	1	2	1	1	0	4	2	4	1	3	0	2	1	3	0	3	6			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654407C>G	ENST00000253255.5	-	1	4812	c.4813G>C	c.(4813-4815)Gac>Cac	p.D1605H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1605					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTGACTTGTCATAGCCGTAA	0.393													6	53					0	0	0	0	G	46654407	C	G	46654407	3	3	272	1	0	0	0	0	1	0	0	0	12042	826	29	2	1952	2	PKDREJ	22	46654407	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	156	46654407	4650159	182	48991			1	76		12	11	2464	N	G_C	1.846652e-25
PKDREJ	10343	broad.mit.edu	37	chr22	46654584	46654584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatggacatcctgatcatCttctatgttgttattggaat	10	16	9	6	0	3	1	1	1	2	0	4	4	4	4	1	3	0	2	1	3	4	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654584C>T	ENST00000253255.5	-	1	4635	c.4636G>A	c.(4636-4638)Gat>Aat	p.D1546N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1546					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCCTGATCATCTTCTATGTTG	0.483													33	233					0	0	0	0	T	46654584	C	T	46654584	3	4	272	1	0	0	0	0	1	0	0	0	12042	913	32	2	2129	2	PKDREJ	22	46654584	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	177	46654584	4649982	183	48992			1	76		12	11	2464	N	G_C	1.846652e-25
PKDREJ	10343	broad.mit.edu	37	chr22	46654926	46654926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattgtaattaagacactttCaattcctatcatcattgatc	13	16	4	8	0	3	2	3	1	0	1	5	3	4	2	1	0	0	1	1	0	4	7			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654926C>T	ENST00000253255.5	-	1	4293	c.4294G>A	c.(4294-4296)Gaa>Aaa	p.E1432K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1432					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.E1432*(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAGACACTTTCAATTCCTATC	0.348													8	61					0	0	0	0	T	46654926	C	T	46654926	3	4	272	1	0	0	0	0	1	0	0	0	12042	835	29	2	2471	2	PKDREJ	22	46654926	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	342	46654926	4649640	184	48993			1	76		12	11	2464	N	G_C	1.846652e-25
PKDREJ	10343	broad.mit.edu	37	chr22	46654948	46654948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcctatcatcattgatctCatgtatttcctctctcttga	8	19	3	11	0	5	2	3	2	3	0	9	2	7	2	2	0	0	1	2	0	2	6			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654948C>T	ENST00000253255.5	-	1	4271	c.4272G>A	c.(4270-4272)atG>atA	p.M1424I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1424					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCATTGATCTCATGTATTTCC	0.348													8	60					0	0	0	0	T	46654948	C	T	46654948	3	4	272	1	0	0	0	0	1	0	0	0	12042	826	29	2	2493	2	PKDREJ	22	46654948	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	22	46654948	4649618	185	48994			1	76		12	11	2464	N	G_C	1.846652e-25
CPT1B	1375	broad.mit.edu	37	chr22	51010730	51010730	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgagagtgaaggatttgtCaaaccacctgcaggaagagt	15	8	12	6	0	1	3	1	2	0	2	1	6	1	5	2	2	2	1	2	2	4	1			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:51010730C>G	ENST00000360719.2	-	12	1497	c.1360G>C	c.(1360-1362)Gac>Cac	p.D454H	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.D373H|CPT1B_ENST00000312108.7_Missense_Mutation_p.D454H|CPT1B_ENST00000457250.1_Missense_Mutation_p.D420H|CPT1B_ENST00000434492.2_Missense_Mutation_p.D251H|CPT1B_ENST00000405237.3_Missense_Mutation_p.D454H|CPT1B_ENST00000395650.2_Missense_Mutation_p.D454H	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	454					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AAGGATTTGTCAAACCACCTG	0.507													6	38					0	0	0	0	G	51010730	C	G	51010730	3	3	272	1	0	0	0	0	1	0	0	0	3862	826	29	2	990	2	CPT1B	22	51010730	Missense_Mutation	SNP	C	TCGA-CV-7089-01A-11D-2012-08	4355782	51010730	293836	186	48995											
ARSD	414	broad.mit.edu	37	chrX	2825395	2825395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacggcttccacaggaTgttgctcatggaaaactgct	10	9	10	12	1	1	0	1	0	0	0	2	2	2	2	2	3	4	4	2	3	2	2			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:2825395T>C	ENST00000381154.1	-	10	1774	c.1699A>G	c.(1699-1701)Atc>Gtc	p.I567V		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	567						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCACAGGATGTTGCTCATG	0.617													6	27					0	0	0	0	C	2825395	T	C	2825395	3	2	272	1	0	0	0	0	1	0	0	0	993	1464	51	5	86	5	ARSD	23	2825395	Missense_Mutation	SNP	T	TCGA-CV-7089-01A-11D-2012-08		2825395	152445165	187	48996											
BEND2	139105	broad.mit.edu	37	chrX	18192280	18192280	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcattggctgaaacatccaAgaacagccttcaccaccatc	13	9	5	14	0	2	2	2	1	0	1	4	2	3	2	4	1	3	1	4	1	3	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:18192280A>C	ENST00000380033.4	-	12	1983	c.1851T>G	c.(1849-1851)tcT>tcG	p.S617S	BEND2_ENST00000380030.3_Silent_p.S526S	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	617										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GAAACATCCAAGAACAGCCTT	0.438													25	58					0	0	0	0	C	18192280	A	C	18192280	2	2	272	1	0	0	0	0	0	0	0	1	1402	59	3	5		5	BEND2	23	18192280	Silent	SNP	A	TCGA-CV-7089-01A-11D-2012-08	15366885	18192280	137078280	188	48997											
SH3KBP1	30011	broad.mit.edu	37	chrX	19702122	19702122	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtcacccccatcactcTcggagcctgtggtttccctt	5	13	8	15	1	3	1	2	1	1	0	5	2	4	2	4	2	1	1	4	2	0	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:19702122T>A	ENST00000397821.3	-	6	835	c.545A>T	c.(544-546)gAg>gTg	p.E182V	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E145V|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E226V	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	182					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCCATCACTCTCGGAGCCTGT	0.537													8	38					0	0	0	0	A	19702122	T	A	19702122	3	1	272	1	0	0	0	0	1	0	0	0	14343	1551	54	5	1520	5	SH3KBP1	23	19702122	Missense_Mutation	SNP	T	TCGA-CV-7089-01A-11D-2012-08	1509842	19702122	135568438	189	48998											
HUWE1	10075	broad.mit.edu	37	chrX	53617986	53617986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aactcctcccatgattggagGagggtgggttaaaaggtact	11	10	13	7	0	0	1	0	1	0	0	2	3	2	3	2	5	2	2	2	5	4	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:53617986G>A	ENST00000342160.3	-	33	4526	c.4069C>T	c.(4069-4071)Cct>Tct	p.P1357S	HUWE1_ENST00000218328.8_Missense_Mutation_p.P1357S|HUWE1_ENST00000262854.6_Missense_Mutation_p.P1357S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1357					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGATTGGAGGAGGGTGGGTT	0.488													4	20					0	0	0	0	A	53617986	G	A	53617986	3	1	272	1	0	0	0	0	1	0	0	0	7514	1174	41	2	9259	2	HUWE1	23	53617986	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	33915864	53617986	101652574	190	48999											
HUWE1	10075	broad.mit.edu	37	chrX	53619384	53619384	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttgttgctggttgacttGaggttcccggcgggagccac	5	11	15	10	2	0	2	0	2	0	0	1	3	1	3	2	4	2	5	2	4	0	5			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:53619384G>C	ENST00000342160.3	-	32	4403	c.3946C>G	c.(3946-3948)Caa>Gaa	p.Q1316E	HUWE1_ENST00000218328.8_Missense_Mutation_p.Q1316E|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q1316E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1316	UBA.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGTTGACTTGAGGTTCCCGG	0.537													18	52					0	0	0	0	C	53619384	G	C	53619384	3	2	272	1	0	0	0	0	1	0	0	0	7514	1299	45	2	9386	2	HUWE1	23	53619384	Missense_Mutation	SNP	G	TCGA-CV-7089-01A-11D-2012-08	1398	53619384	101651176	191	49000											
ZMAT1	84460	broad.mit.edu	37	chrX	101152892	101152892	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatcatgttcctccattaAttgcttcagttttttagcat	8	19	5	9	0	2	1	2	1	0	0	4	1	4	1	2	0	2	4	2	0	2	7			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:101152892A>T	ENST00000372782.3	-	5	501	c.454T>A	c.(454-456)Tta>Ata	p.L152I	ZMAT1_ENST00000540921.1_Missense_Mutation_p.L152I|ZMAT1_ENST00000458570.1_5'UTR	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	449						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCCTCCATTAATTGCTTCAGT	0.403													10	27					0	0	0	0	T	101152892	A	T	101152892	3	4	272	1	0	0	0	0	1	0	0	0	17786	98	4	5	1474	5	ZMAT1	23	101152892	Missense_Mutation	SNP	A	TCGA-CV-7089-01A-11D-2012-08	47533508	101152892	54117668	192	49001											
TCEAL3	85012	broad.mit.edu	37	chrX	102864119	102864120	+	Frame_Shift_Ins	INS	-	-	A																															agacgtggaggggaagacagINSaatgcgagggaaagagagag																										TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:102864119_102864120insA	ENST00000372628.1	+	3	485_486	c.127_128insA	c.(127-129)atgfs	p.M43fs	TCEAL3_ENST00000372627.5_Frame_Shift_Ins_p.M43fs|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Frame_Shift_Ins_p.M43fs			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	43	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						ggggaagacagaatgcgaggga	0.535													16	33	---	---	---	---					A	102864120	-	A	102864119	7	5	272	1	0	1	1	0	0	0	0	0	15766	943	33	0	129	0	TCEAL3	23	102864119	Frame_Shift_Ins	INS	-	TCGA-CV-7089-01A-11D-2012-08	1711227	102864119	52406441	193	49002											
ARHGEF6	9459	broad.mit.edu	37	chrX	135862907	135862907	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagccaggcatgagtctgttGatcagtttgcacagaactac	11	10	11	9	0	2	3	1	2	1	1	2	4	2	3	1	1	4	4	1	1	2	3			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:135862907G>A	ENST00000250617.6	-	1	1340	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	45	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TGAGTCTGTTGATCAGTTTGC	0.433													9	114					0	0	0	0	A	135862907	G	A	135862907	2	1	272	1	0	0	0	0	0	0	0	1	912	1280	45	2		2	ARHGEF6	23	135862907	Silent	SNP	G	TCGA-CV-7089-01A-11D-2012-08	32998788	135862907	19407653	194	49003											
ARID1A	8289	broad.mit.edu	37	chr1	27099013	27099013	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatcaggatctatgcagggGccccagactccccagtcaac	10	6	11	14	0	3	1	2	0	1	1	4	3	4	3	4	4	2	1	4	4	2	1			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:27099013G>C	ENST00000324856.7	+	13	3800	c.3429G>C	c.(3427-3429)ggG>ggC	p.G1143G	ARID1A_ENST00000457599.2_Silent_p.G1143G|ARID1A_ENST00000374152.2_Silent_p.G760G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1143					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTATGCAGGGGCCCCAGACTC	0.527			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								12	48					0	0	0	0	C	27099013	G	C	27099013	2	2	273	1	0	0	0	0	0	0	0	1	915	1190	42	4		4	ARID1A	1	27099013	Silent	SNP	G	TCGA-CV-7090-01A-11D-2012-08		27099013	222151608	1	49004											
CYP2J2	1573	broad.mit.edu	37	chr1	60381634	60381634	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcttaaagatatgttctcGcataggggtcacggggcggt	8	13	13	7	3	3	1	1	0	2	1	4	1	3	1	0	5	0	2	0	5	4	5			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:60381634G>A	ENST00000371204.3	-	2	392	c.349C>T	c.(349-351)Cga>Tga	p.R117*		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	117					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					ATATGTTCTCGCATAGGGGTC	0.428													15	98					0	0	0	0	A	60381634	G	A	60381634	4	1	273	1	0	0	0	0	0	1	0	0	4204	1095	38	1	1191	1	CYP2J2	1	60381634	Nonsense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	33282621	60381634	188868987	2	49005											
INADL	10207	broad.mit.edu	37	chr1	62593753	62593753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcggagtggccgcacggaCacagaagcttaaagtaaacg	14	5	13	9	4	0	1	0	0	0	1	0	3	0	3	1	3	3	3	1	3	6	3			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:62593753C>T	ENST00000371158.2	+	40	5267	c.5153C>T	c.(5152-5154)aCa>aTa	p.T1718I	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1718	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCCGCACGGACACAGAAGCTT	0.488													5	37					0	0	0	0	T	62593753	C	T	62593753	3	4	273	1	0	0	0	0	1	0	0	0	7784	478	17	4	5307	4	INADL	1	62593753	Missense_Mutation	SNP	C	TCGA-CV-7090-01A-11D-2012-08	2212119	62593753	186656868	3	49006											
PLCD1	5333	broad.mit.edu	37	chr3	38058058	38058058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcacccagtgctgggCatcagctggcgatggggcga	7	5	15	14	2	1	0	1	0	0	0	1	2	1	0	3	4	3	4	3	4	0	0			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:38058058C>T	ENST00000463876.1	-	3	768	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	PLCD1_ENST00000479619.1_5'UTR|PLCD1_ENST00000334661.4_Missense_Mutation_p.A118T	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	118					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGTGCTGGGCATCAGCTGGC	0.587													6	22					0	0	0	0	T	38058058	C	T	38058058	3	4	273	1	0	0	0	0	1	0	0	0	12103	710	25	4	1970	4	PLCD1	3	38058058	Missense_Mutation	SNP	C	TCGA-CV-7090-01A-11D-2012-08		38058058	159964372	4	49007											
CADM2	253559	broad.mit.edu	37	chr3	86028420	86028420	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccacatctgcaacaacCagcagcatcagaggtacagt	15	5	7	14	0	2	1	1	0	1	1	2	1	2	1	3	1	7	4	3	1	4	1			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:86028420C>A	ENST00000407528.2	+	8	1112	c.1050C>A	c.(1048-1050)acC>acA	p.T350T	CADM2_ENST00000405615.2_Silent_p.T352T|CADM2_ENST00000383699.3_Intron	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	350	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGCAACAACCAGCAGCATCA	0.433													24	163					2.41591e-17	2.26784e-16	1	0	A	86028420	C	A	86028420	2	1	273	1	0	0	0	0	0	0	0	1	2592	581	21	4		4	CADM2	3	86028420	Silent	SNP	C	TCGA-CV-7090-01A-11D-2012-08	47970362	86028420	111994010	5	49008											
NR1I2	8856	broad.mit.edu	37	chr3	119531666	119531666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgcagctgcggggggAggatggcagtgtctggaact	6	9	17	9	1	2	0	0	0	2	0	3	3	2	3	0	6	4	3	0	6	1	0			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:119531666A>G	ENST00000393716.2	+	5	2492	c.653A>G	c.(652-654)gAg>gGg	p.E218G	NR1I2_ENST00000337940.4_Missense_Mutation_p.E257G|NR1I2_ENST00000466380.1_Missense_Mutation_p.E181G	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	218	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.E257G(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CTGCGGGGGGAGGATGGCAGT	0.582													5	69					0	0	0	0	G	119531666	A	G	119531666	3	3	273	1	0	0	0	0	1	0	0	0	10691	304	11	5	788	5	NR1I2	3	119531666	Missense_Mutation	SNP	A	TCGA-CV-7090-01A-11D-2012-08	33503246	119531666	78490764	6	49009											
IFT80	57560	broad.mit.edu	37	chr3	160025459	160025459	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagatgcttacgagaacacGtaacattgaagagacgttga	16	8	10	7	3	0	5	0	2	0	3	0	7	0	5	0	0	4	3	0	0	5	4			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:160025459G>A	ENST00000326448.7	-	10	1500	c.1068C>T	c.(1066-1068)taC>taT	p.Y356Y	IFT80_ENST00000483465.1_Silent_p.Y219Y|RP11-432B6.3_ENST00000483754.1_Silent_p.Y527Y|IFT80_ENST00000496589.1_Silent_p.Y219Y	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	356						cilium axoneme|microtubule basal body		p.Y356*(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACGAGAACACGTAACATTGAA	0.368													8	34					0	0	0	0	A	160025459	G	A	160025459	2	1	273	1	0	0	0	0	0	0	0	1	7617	1140	40	1		1	IFT80	3	160025459	Silent	SNP	G	TCGA-CV-7090-01A-11D-2012-08	40493793	160025459	37996971	7	49010											
ZNF141	7700	broad.mit.edu	37	chr4	367159	367159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catactggagagaaaccctaCaaatgtgaagaatgtggcaa	17	7	10	7	0	0	3	0	1	0	2	0	5	0	4	1	2	3	1	1	2	7	2			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr4:367159C>T	ENST00000240499.7	+	4	1082	c.933C>T	c.(931-933)taC>taT	p.Y311Y	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	311					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AGAAACCCTACAAATGTGAAG	0.393													35	62					0	0	0	0	T	367159	C	T	367159	2	4	273	1	0	0	0	0	0	0	0	1	17825	489	17	4		4	ZNF141	4	367159	Silent	SNP	C	TCGA-CV-7090-01A-11D-2012-08		367159	190787117	8	49011											
AFAP1	60312	broad.mit.edu	37	chr4	7857195	7857195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagggctggccactcacttGatgtgatgtattccggagct	7	11	13	10	1	1	2	1	2	0	0	2	3	2	3	2	3	1	4	2	3	1	3			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr4:7857195G>A	ENST00000420658.1	-	4	604	c.332C>T	c.(331-333)tCa>tTa	p.S111L	AFAP1_ENST00000360265.4_Missense_Mutation_p.S111L|AFAP1_ENST00000382543.3_Missense_Mutation_p.S111L|AFAP1_ENST00000358461.2_Missense_Mutation_p.S111L	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	111						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CCACTCACTTGATGTGATGTA	0.562													13	45					0	0	0	0	A	7857195	G	A	7857195	3	1	273	1	0	0	0	0	1	0	0	0	353	1294	45	2	2172	2	AFAP1	4	7857195	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	7490036	7857195	183297081	9	49012											
FGB	2244	broad.mit.edu	37	chr4	155489613	155489613	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagttctgtcaaaccgtatAgagtatactgtgacatgaat	14	12	8	7	1	2	3	1	2	1	1	2	3	2	3	1	0	2	3	1	0	6	5			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr4:155489613A>T	ENST00000302068.4	+	5	862	c.799A>T	c.(799-801)Aga>Tga	p.R267*	FGB_ENST00000509493.1_Nonsense_Mutation_p.R48*|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	267	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAAACCGTATAGAGTATACTG	0.373													6	80					0	0	0	0	T	155489613	A	T	155489613	4	4	273	1	0	0	0	0	0	1	0	0	5876	412	15	5	817	5	FGB	4	155489613	Nonsense_Mutation	SNP	A	TCGA-CV-7090-01A-11D-2012-08	147632418	155489613	35664663	10	49013											
AGXT2	64902	broad.mit.edu	37	chr5	35014142	35014142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccattcccaatccctttaGccatggtgacaatgtcaggc	10	10	8	13	0	1	1	1	1	0	0	3	1	3	1	4	2	2	0	4	2	3	3			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr5:35014142G>A	ENST00000231420.6	-	10	1246	c.1046C>T	c.(1045-1047)gCt>gTt	p.A349V		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	349					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AATCCCTTTAGCCATGGTGAC	0.527													48	63					0	0	0	0	A	35014142	G	A	35014142	3	1	273	1	0	0	0	0	1	0	0	0	405	971	34	4	518	4	AGXT2	5	35014142	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08		35014142	145901118	11	49014											
CATSPER3	347732	broad.mit.edu	37	chr5	134303694	134303694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggaaaatgtctcaacacCgtcaccagcgccactcgaga	12	8	8	13	3	2	1	2	0	1	1	4	3	2	2	3	1	2	0	3	1	3	1	rs140980095	byFrequency	TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr5:134303694C>T	ENST00000282611.6	+	1	99	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C	PCBD2_ENST00000512783.1_3'UTR|CATSPER3_ENST00000511235.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	5					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCTCAACACCGTCACCAGCG	0.388													3	27					0	0	0	0	T	134303694	C	T	134303694	3	4	273	1	0	0	0	0	1	0	0	0	2714	652	23	1	15	1	CATSPER3	5	134303694	Missense_Mutation	SNP	C	TCGA-CV-7090-01A-11D-2012-08	99289552	134303694	46611566	12	49015											
EYA4	2070	broad.mit.edu	37	chr6	133783832	133783832	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccccattacagagtggCtgcctcagttacagcccagg	9	8	10	14	0	1	1	1	0	0	1	2	1	2	1	4	2	4	2	4	2	2	2			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr6:133783832C>A	ENST00000367895.5	+	9	1118	c.654C>A	c.(652-654)ggC>ggA	p.G218G	EYA4_ENST00000531901.1_Silent_p.G218G|EYA4_ENST00000355167.3_Silent_p.G218G|EYA4_ENST00000430974.2_Silent_p.G164G|EYA4_ENST00000355286.6_Silent_p.G195G|EYA4_ENST00000525849.1_Silent_p.G195G|EYA4_ENST00000452339.2_Silent_p.G164G|EYA4_ENST00000431403.2_Silent_p.G218G	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	218					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TACAGAGTGGCTGCCTCAGTT	0.473													9	44					7.48243e-07	6.59814e-06	1	0	A	133783832	C	A	133783832	2	1	273	1	0	0	0	0	0	0	0	1	5369	784	28	4		4	EYA4	6	133783832	Silent	SNP	C	TCGA-CV-7090-01A-11D-2012-08		133783832	37331235	13	49016											
ABCB5	340273	broad.mit.edu	37	chr7	20725391	20725391	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagaccaactcacttcctCtgcactctgtgaagagcatc	12	9	7	13	0	3	3	1	1	2	2	5	4	4	3	2	0	3	2	2	0	3	1			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:20725391C>T	ENST00000404938.2	+	16	2594	c.1942C>T	c.(1942-1944)Ctg>Ttg	p.L648L	ABCB5_ENST00000258738.6_Silent_p.L203L	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	203	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTCACTTCCTCTGCACTCTGT	0.398													6	24					0	0	0	0	T	20725391	C	T	20725391	2	4	273	1	0	0	0	0	0	0	0	1	44	912	32	2		2	ABCB5	7	20725391	Silent	SNP	C	TCGA-CV-7090-01A-11D-2012-08		20725391	138413272	14	49017											
BBS9	27241	broad.mit.edu	37	chr7	33390925	33390925	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgttgtttcttattcCagaccaacaggtaaacatac	13	13	6	9	0	1	1	0	0	1	1	2	1	2	1	2	1	4	4	2	1	6	6			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:33390925C>G	ENST00000242067.6	+	14	2048	c.1527C>G	c.(1525-1527)tcC>tcG	p.S509S	BBS9_ENST00000354265.4_Intron|BBS9_ENST00000396127.2_Intron|BBS9_ENST00000350941.3_Intron|BBS9_ENST00000355070.2_Silent_p.S509S	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	509					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTTCTTATTCCAGACCAACAG	0.323									Bardet-Biedl syndrome				5	49					0	0	0	0	G	33390925	C	G	33390925	2	3	273	1	0	0	0	0	0	0	0	1	1346	581	21	4		4	BBS9	7	33390925	Silent	SNP	C	TCGA-CV-7090-01A-11D-2012-08	12665534	33390925	125747738	15	49018											
GRM8	2918	broad.mit.edu	37	chr7	126249445	126249445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgattggtccagtggcCgatgactttgtactctgtgc	7	13	12	9	1	1	2	0	2	1	0	2	3	2	2	2	2	3	2	2	2	2	3			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:126249445C>T	ENST00000339582.2	-	8	2273	c.1465G>A	c.(1465-1467)Ggc>Agc	p.G489S	GRM8_ENST00000358373.3_Missense_Mutation_p.G489S|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Missense_Mutation_p.G489S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	489					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTCCAGTGGCCGATGACTTTG	0.378										HNSCC(24;0.065)			15	93					0	0	0	0	T	126249445	C	T	126249445	3	4	273	1	0	0	0	0	1	0	0	0	6853	652	23	1	1327	1	GRM8	7	126249445	Missense_Mutation	SNP	C	TCGA-CV-7090-01A-11D-2012-08	92858520	126249445	32889218	16	49019											
LSM1	27257	broad.mit.edu	37	chr8	38021331	38021331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatggatacttgctggaGgggtgtgtcactctcctttt	6	16	11	8	0	3	0	2	0	1	0	4	2	3	2	1	4	2	1	1	4	2	5			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:38021331G>T	ENST00000311351.4	-	4	654	c.259C>A	c.(259-261)Ctc>Atc	p.L87I	LSM1_ENST00000520755.1_3'UTR|LSM1_ENST00000522515.1_5'UTR	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)	87					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					ACTTGCTGGAGGGGTGTGTCA	0.458													8	84					5.18039e-06	4.49998e-05	1	0	T	38021331	G	T	38021331	3	4	273	1	0	0	0	0	1	0	0	0	9114	1000	35	4	146	4	LSM1	8	38021331	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08		38021331	108342691	17	49020											
BAG4	9530	broad.mit.edu	37	chr8	38067634	38067634	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgaacaatgatgattcaGatcttttggattcccaagtc	12	13	8	8	0	2	4	1	3	1	1	4	5	3	5	1	1	1	0	1	1	3	4			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:38067634G>C	ENST00000287322.4	+	5	1268	c.997G>C	c.(997-999)Gat>Cat	p.D333H	BAG4_ENST00000432471.2_Missense_Mutation_p.D297H	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	333					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TGATGATTCAGATCTTTTGGA	0.463													12	121					0	0	0	0	C	38067634	G	C	38067634	3	2	273	1	0	0	0	0	1	0	0	0	1293	942	33	2	1015	2	BAG4	8	38067634	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	46303	38067634	108296388	18	49021											
BAG4	9530	broad.mit.edu	37	chr8	38067849	38067849	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaatttgtaggaaaaaaGacagacaaagcatactggct	19	7	10	5	0	0	3	0	0	0	3	0	5	0	4	0	2	2	3	0	2	8	3			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:38067849G>C	ENST00000287322.4	+	5	1483	c.1212G>C	c.(1210-1212)aaG>aaC	p.K404N	BAG4_ENST00000432471.2_Missense_Mutation_p.K368N	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	404	BAG.				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TAGGAAAAAAGACAGACAAAG	0.423													4	81					0	0	0	0	C	38067849	G	C	38067849	3	2	273	1	0	0	0	0	1	0	0	0	1293	933	33	2	1230	2	BAG4	8	38067849	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	215	38067849	108296173	19	49022											
ODF1	4956	broad.mit.edu	37	chr8	103564263	103564263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccatagaagatgagaagcGagagcttgccaagtaaaata	18	6	11	6	1	0	4	0	1	0	4	0	6	0	4	2	0	4	2	2	0	7	4			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:103564263G>A	ENST00000285402.3	+	1	464	c.308G>A	c.(307-309)cGa>cAa	p.R103Q		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	103					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GATGAGAAGCGAGAGCTTGCC	0.363													14	101					0	0	0	0	A	103564263	G	A	103564263	3	1	273	1	0	0	0	0	1	0	0	0	10897	1058	37	1	310	1	ODF1	8	103564263	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	65496414	103564263	42799759	20	49023											
COL14A1	7373	broad.mit.edu	37	chr8	121259909	121259909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaatggtataaccggttgcGcattacgtgggaccccccat	9	9	12	11	3	0	0	0	0	0	0	0	2	0	2	4	4	3	3	4	4	4	4			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:121259909G>A	ENST00000297848.3	+	21	2807	c.2537G>A	c.(2536-2538)cGc>cAc	p.R846H	COL14A1_ENST00000247781.3_Missense_Mutation_p.R751H|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.R846H	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	846	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACCGGTTGCGCATTACGTGG	0.458													33	71					0	0	0	0	A	121259909	G	A	121259909	3	1	273	1	0	0	0	0	1	0	0	0	3701	1087	38	1	2615	1	COL14A1	8	121259909	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	17695646	121259909	25104113	21	49024											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	13					0	0	0	0	A	21971120	G	A	21971120	4	1	273	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08		21971120	119242311	22	49025											
TJP2	9414	broad.mit.edu	37	chr9	71851111	71851111	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactggctggctgtgaggAttgggaacgagttggagaaa	11	8	17	5	1	0	2	0	1	0	1	0	6	0	4	0	5	2	4	0	5	3	2			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr9:71851111A>T	ENST00000377245.4	+	13	2156	c.1948A>T	c.(1948-1950)Att>Ttt	p.I650F	TJP2_ENST00000348208.4_Missense_Mutation_p.I650F|TJP2_ENST00000453658.2_Missense_Mutation_p.I627F|TJP2_ENST00000535702.1_Missense_Mutation_p.I654F|TJP2_ENST00000265384.7_Missense_Mutation_p.I650F|TJP2_ENST00000539225.1_Missense_Mutation_p.I681F	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	650	SH3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGCTGTGAGGATTGGGAACGA	0.522													9	63					0	0	0	0	T	71851111	A	T	71851111	3	4	273	1	0	0	0	0	1	0	0	0	16024	333	12	5	2155	5	TJP2	9	71851111	Missense_Mutation	SNP	A	TCGA-CV-7090-01A-11D-2012-08	49879991	71851111	69362320	23	49026											
KIAA1984	84960	broad.mit.edu	37	chr9	139700965	139700965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgcagcttcaagtcCgttgagaagaaaatgacaga	13	9	10	9	1	2	4	1	2	1	3	3	5	3	4	2	0	2	3	2	0	4	3			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr9:139700965C>T	ENST00000338005.6	+	11	1154	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	373										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GCTTCAAGTCCGTTGAGAAGA	0.582													4	34					0	0	0	0	T	139700965	C	T	139700965	2	4	273	1	0	0	0	0	0	0	0	1	8317	639	23	1		1	KIAA1984	9	139700965	Silent	SNP	C	TCGA-CV-7090-01A-11D-2012-08	67849854	139700965	1512466	24	49027											
CREM	1390	broad.mit.edu	37	chr10	35456674	35456674	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggtggcatcagcataaTctatgtttcaggcgtcctat	9	14	10	8	1	3	0	2	0	1	0	4	0	4	0	1	3	1	3	1	3	3	4			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr10:35456674T>G	ENST00000361599.4	+	1	231	c.21T>G	c.(19-21)aaT>aaG	p.N7K	CREM_ENST00000429130.3_Intron|CREM_ENST00000395887.3_Missense_Mutation_p.N7K|CREM_ENST00000395895.2_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000374734.3_Intron|CREM_ENST00000489321.1_Intron|CREM_ENST00000489388.1_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000337656.4_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000484283.1_Missense_Mutation_p.N7K|CREM_ENST00000479070.1_Intron|CREM_ENST00000333809.8_Intron|CREM_ENST00000374726.3_Intron|CREM_ENST00000354759.3_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000374721.3_Intron	NM_001267564.1|NM_182771.1|NM_182772.1	NP_001254493.1|NP_877572.1|NP_877573.1	Q03060	CREM_HUMAN	cAMP responsive element modulator	0					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						ATCAGCATAATCTATGTTTCA	0.378													22	69					0	0	0	0	G	35456674	T	G	35456674	3	3	273	1	0	0	0	0	1	0	0	0	3898	1432	50	5	199	5	CREM	10	35456674	Missense_Mutation	SNP	T	TCGA-CV-7090-01A-11D-2012-08		35456674	100078073	25	49028											
DUSP5	1847	broad.mit.edu	37	chr10	112257918	112257918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgggcgccagctgcgcaaGatgctccgcaaggaggcggc	8	3	17	13	5	0	1	0	0	0	1	1	3	1	2	2	4	3	4	2	4	2	0			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr10:112257918G>C	ENST00000369583.3	+	1	323	c.39G>C	c.(37-39)aaG>aaC	p.K13N		NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	13					endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AGCTGCGCAAGATGCTCCGCA	0.766													8	24					0	0	0	0	C	112257918	G	C	112257918	3	2	273	1	0	0	0	0	1	0	0	0	4864	933	33	2	41	2	DUSP5	10	112257918	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	76801244	112257918	23276829	26	49029											
MADD	8567	broad.mit.edu	37	chr11	47305994	47305994	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgacgagctgcagaatCagaaggaagcagaagagcct	16	5	13	7	1	1	6	1	1	0	5	1	8	1	7	1	1	4	3	1	1	4	1			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr11:47305994C>A	ENST00000342922.4	+	12	2392	c.2035C>A	c.(2035-2037)Cag>Aag	p.Q679K	MADD_ENST00000407859.3_Missense_Mutation_p.Q679K|MADD_ENST00000406482.1_Missense_Mutation_p.Q679K|MADD_ENST00000402799.1_Missense_Mutation_p.Q679K|MADD_ENST00000402192.2_Missense_Mutation_p.Q679K|MADD_ENST00000395336.3_Missense_Mutation_p.Q679K|MADD_ENST00000395344.3_Missense_Mutation_p.Q679K|MADD_ENST00000349238.3_Missense_Mutation_p.Q679K|MADD_ENST00000311027.5_Missense_Mutation_p.Q679K	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	679					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GCTGCAGAATCAGAAGGAAGC	0.592													28	40					8.58068e-18	8.18682e-17	1	0	A	47305994	C	A	47305994	3	1	273	1	0	0	0	0	1	0	0	0	9217	827	29	2	2077	2	MADD	11	47305994	Missense_Mutation	SNP	C	TCGA-CV-7090-01A-11D-2012-08		47305994	87700522	27	49030											
NUMA1	4926	broad.mit.edu	37	chr11	71715073	71715073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttctttgaggctccccGccgcagaaggctgttcccta	5	10	11	15	2	1	2	0	1	1	1	3	2	3	2	5	3	0	4	5	3	2	4			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr11:71715073G>A	ENST00000393695.3	-	26	6527	c.6196C>T	c.(6196-6198)Cgg>Tgg	p.R2066W	NUMA1_ENST00000358965.6_Missense_Mutation_p.R2052W|NUMA1_ENST00000351960.6_Missense_Mutation_p.R930W	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2066					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGCTCCCCGCCGCAGAAGG	0.647			T	RARA	APL								24	136					0	0	0	0	A	71715073	G	A	71715073	3	1	273	1	0	0	0	0	1	0	0	0	10821	1086	38	1	159	1	NUMA1	11	71715073	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	24409079	71715073	63291443	28	49031											
FAT3	120114	broad.mit.edu	37	chr11	92088363	92088363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catctgtttcctttgttgagGtggaagtggtggatgtcaat	7	16	13	5	0	2	1	1	1	1	0	3	3	3	3	1	4	0	2	1	4	2	3			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr11:92088363G>T	ENST00000298047.6	+	1	3102	c.3085G>T	c.(3085-3087)Gtg>Ttg	p.V1029L	FAT3_ENST00000541502.1_Missense_Mutation_p.V1029L|FAT3_ENST00000525166.1_Missense_Mutation_p.V879L|FAT3_ENST00000409404.2_Missense_Mutation_p.V1029L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1029	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTTGTTGAGGTGGAAGTGGT	0.458										TCGA Ovarian(4;0.039)			7	38					8.12818e-05	0.000695677	1	0	T	92088363	G	T	92088363	3	4	273	1	0	0	0	0	1	0	0	0	5736	1261	44	4	3087	4	FAT3	11	92088363	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	20373290	92088363	42918153	29	49032											
PTPRB	5787	broad.mit.edu	37	chr12	70974931	70974931	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgtatctgctggtctcActggagatgctttcattttt	7	17	9	8	0	3	1	2	0	2	1	4	2	3	1	0	2	3	4	0	2	2	4			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr12:70974931A>G	ENST00000334414.6	-	10	2507	c.2463T>C	c.(2461-2463)agT>agC	p.S821S	PTPRB_ENST00000550857.1_Silent_p.S513S|PTPRB_ENST00000538708.1_Silent_p.S603S|PTPRB_ENST00000550358.1_Silent_p.S821S|PTPRB_ENST00000261266.5_Silent_p.S603S|PTPRB_ENST00000451516.2_Silent_p.S513S|PTPRB_ENST00000551525.1_Silent_p.S820S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	603	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGCTGGTCTCACTGGAGATGC	0.473													16	78					0	0	0	0	G	70974931	A	G	70974931	2	3	273	1	0	0	0	0	0	0	0	1	12878	156	6	5		5	PTPRB	12	70974931	Silent	SNP	A	TCGA-CV-7090-01A-11D-2012-08		70974931	62876964	30	49033											
DIAPH3	81624	broad.mit.edu	37	chr13	60584694	60584694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcccctacaatgcataccGcagagagaagtttaaccaca	14	8	6	13	1	0	2	0	0	0	2	1	3	1	2	4	0	4	3	4	0	5	5			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr13:60584694G>A	ENST00000400324.4	-	8	1101	c.881C>T	c.(880-882)gCg>gTg	p.A294V	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.A224V|DIAPH3_ENST00000400320.1_Missense_Mutation_p.A248V|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A294V|DIAPH3_ENST00000377908.2_Missense_Mutation_p.A283V|DIAPH3_ENST00000267215.4_Missense_Mutation_p.A294V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	294	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AATGCATACCGCAGAGAGAAG	0.368													7	23					0	0	0	0	A	60584694	G	A	60584694	3	1	273	1	0	0	0	0	1	0	0	0	4557	1087	38	1	2804	1	DIAPH3	13	60584694	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08		60584694	54585184	31	49034											
PCNX	22990	broad.mit.edu	37	chr14	71444780	71444780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcagttttgattcaagcCggcatagggactatgtttgc	9	13	11	8	1	1	1	1	1	0	0	1	2	1	2	1	2	3	4	1	2	4	7			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr14:71444780C>T	ENST00000304743.2	+	6	2172	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	PCNX_ENST00000238570.5_Missense_Mutation_p.R576W|PCNX_ENST00000439984.3_Missense_Mutation_p.R576W	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	576						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGATTCAAGCCGGCATAGGGA	0.473													5	135					0	0	0	0	T	71444780	C	T	71444780	3	4	273	1	0	0	0	0	1	0	0	0	11662	643	23	1	1748	1	PCNX	14	71444780	Missense_Mutation	SNP	C	TCGA-CV-7090-01A-11D-2012-08		71444780	35904760	32	49035											
GABRB3	2562	broad.mit.edu	37	chr15	26812809	26812809	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttatcagtatagagggcaTataagtctgaagaatgaagt	15	11	11	4	1	2	4	1	2	1	2	2	4	2	4	0	1	0	3	0	1	8	5			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr15:26812809T>C	ENST00000541819.2	-	8	1024	c.922A>G	c.(922-924)Atg>Gtg	p.M308V	GABRB3_ENST00000545868.1_Missense_Mutation_p.M167V|GABRB3_ENST00000400188.3_Missense_Mutation_p.M181V|GABRB3_ENST00000299267.4_Missense_Mutation_p.M252V|GABRB3_ENST00000311550.5_Missense_Mutation_p.M252V			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	252					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	ATAGAGGGCATATAAGTCTGA	0.428													9	30					0	0	0	0	C	26812809	T	C	26812809	3	2	273	1	0	0	0	0	1	0	0	0	6216	1406	49	5	679	5	GABRB3	15	26812809	Missense_Mutation	SNP	T	TCGA-CV-7090-01A-11D-2012-08		26812809	75718583	33	49036											
TUBB3	10381	broad.mit.edu	37	chr16	90001360	90001360	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccgcatcatgaacaccttCagcgtcgtgccctcacccaa	10	7	7	17	3	3	1	3	1	0	0	4	2	3	1	4	0	3	1	4	0	2	1			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr16:90001360C>T	ENST00000304984.5	+	3	2580	c.285C>T	c.(283-285)ttC>ttT	p.F95F	TUBB3_ENST00000556922.1_Silent_p.F514F|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Silent_p.F95F|TUBB3_ENST00000315491.7_Silent_p.F167F			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	167					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGAACACCTTCAGCGTCGTGC	0.627													19	123					0	0	0	0	T	90001360	C	T	90001360	2	4	273	1	0	0	0	0	0	0	0	1	16853	825	29	2		2	TUBB3	16	90001360	Silent	SNP	C	TCGA-CV-7090-01A-11D-2012-08		90001360	353393	34	49037											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	17					0	0	0	0	T	7577120	C	T	7577120	3	4	273	1	0	0	0	0	1	0	0	0	16476	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-CV-7090-01A-11D-2012-08		7577120	73618090	35	49038											
ADAP2	55803	broad.mit.edu	37	chr17	29261281	29261281	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagtttgtacttctggcaaGagaaggcctcctgaagtact	11	11	11	8	0	1	2	0	1	1	1	2	4	2	2	2	2	2	4	2	2	6	4			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:29261281G>C	ENST00000330889.3	+	5	811	c.476G>C	c.(475-477)aGa>aCa	p.R159T	ADAP2_ENST00000580525.1_Missense_Mutation_p.R165T	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	159	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CTTCTGGCAAGAGAAGGCCTC	0.483													13	11					0	0	0	0	C	29261281	G	C	29261281	3	2	273	1	0	0	0	0	1	0	0	0	280	942	33	2	494	2	ADAP2	17	29261281	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	21684161	29261281	51933929	36	49039											
ABCC3	8714	broad.mit.edu	37	chr17	48745371	48745371	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taatcagcaacctgactcagGtaaccctgggtagggctggg	10	8	13	10	0	2	1	2	1	0	0	2	1	2	1	2	4	3	4	2	4	4	3			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:48745371G>A	ENST00000285238.8	+	13	1862		c.e13+1			NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3						bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTGACTCAGGTAACCCTGGG	0.527													16	34					0	0	0	0	A	48745371	G	A	48745371	5	1	273	1	0	0	0	0	0	0	1	0	54	1275	44	4	1917	4	ABCC3	17	48745371	Splice_Site	SNP	G	TCGA-CV-7090-01A-11D-2012-08	19484090	48745371	32449839	37	49040											
TUBD1	51174	broad.mit.edu	37	chr17	57968230	57968230	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagaatctttctttgcaaGatgcttgatatgcctcattc	10	16	7	8	0	3	4	1	2	2	2	4	4	3	4	1	0	3	2	1	0	4	5			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:57968230G>C	ENST00000325752.3	-	2	411	c.134C>G	c.(133-135)tCt>tGt	p.S45C	TUBD1_ENST00000394239.3_Missense_Mutation_p.S45C|TUBD1_ENST00000376094.4_Missense_Mutation_p.S45C|TUBD1_ENST00000346141.6_Missense_Mutation_p.S45C|TUBD1_ENST00000340993.6_Missense_Mutation_p.S45C|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.S45C	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	45					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TTCTTTGCAAGATGCTTGATA	0.468													36	76					0	0	0	0	C	57968230	G	C	57968230	3	2	273	1	0	0	0	0	1	0	0	0	16858	942	33	2	1259	2	TUBD1	17	57968230	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	9222859	57968230	23226980	38	49041											
ACE	1636	broad.mit.edu	37	chr17	61570945	61570945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgaggccattggggacGtgctagccctctcagtgtct	6	11	12	12	1	2	1	1	1	2	0	4	2	3	2	3	3	2	1	3	3	1	2			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:61570945G>A	ENST00000577647.1	+	9	1384	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	ACE_ENST00000290866.4_Missense_Mutation_p.V1021M|ACE_ENST00000428043.1_Missense_Mutation_p.V1021M|ACE_ENST00000290863.6_Missense_Mutation_p.V447M|ACE_ENST00000421982.2_Missense_Mutation_p.V267M|ACE_ENST00000413513.3_Missense_Mutation_p.V447M|ACE_ENST00000490216.2_Missense_Mutation_p.V447M			P12821	ACE_HUMAN	angiotensin I converting enzyme	1021	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CATTGGGGACGTGCTAGCCCT	0.597													6	40					0	0	0	0	A	61570945	G	A	61570945	3	1	273	1	0	0	0	0	1	0	0	0	136	1145	40	1	3342	1	ACE	17	61570945	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	3602715	61570945	19624265	39	49042											
CABLES1	91768	broad.mit.edu	37	chr18	20833870	20833870	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaaaattggaagtgacctCaaaaaacacgaagtcaagca	19	5	8	9	1	2	1	2	1	0	0	2	3	2	2	2	1	2	1	2	1	8	1			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr18:20833870C>G	ENST00000256925.7	+	9	1731	c.1731C>G	c.(1729-1731)ctC>ctG	p.L577L	CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000420687.2_Silent_p.L312L|CABLES1_ENST00000400473.2_Silent_p.L250L|TMEM241_ENST00000450466.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	577					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAGTGACCTCAAAAAACACG	0.493													5	37					0	0	0	0	G	20833870	C	G	20833870	2	3	273	1	0	0	0	0	0	0	0	1	2554	813	29	2		2	CABLES1	18	20833870	Silent	SNP	C	TCGA-CV-7090-01A-11D-2012-08		20833870	57243378	40	49043											
LONP1	9361	broad.mit.edu	37	chr19	5705940	5705940	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggcccagctccttctTgatgatctttagctgctcct	5	14	7	15	0	2	2	0	2	2	0	5	2	5	2	4	1	3	3	4	1	1	4			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:5705940T>C	ENST00000360614.3	-	8	1367	c.1210A>G	c.(1210-1212)Aag>Gag	p.K404E	LONP1_ENST00000593119.1_Missense_Mutation_p.K340E|LONP1_ENST00000590729.1_Missense_Mutation_p.K274E|LONP1_ENST00000540670.2_Missense_Mutation_p.K208E|LONP1_ENST00000585374.1_Missense_Mutation_p.K290E	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	404					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCTCCTTCTTGATGATCTTT	0.592													3	103					0	0	0	0	C	5705940	T	C	5705940	3	2	273	1	0	0	0	0	1	0	0	0	8956	1821	63	5	1713	5	LONP1	19	5705940	Missense_Mutation	SNP	T	TCGA-CV-7090-01A-11D-2012-08		5705940	53423043	41	49044											
TYK2	7297	broad.mit.edu	37	chr19	10476499	10476499	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggaacctgcggaagacgttCcgaaggcgcagccgggtcag	10	4	16	11	5	1	1	1	0	0	1	2	4	2	3	3	4	3	2	3	4	3	1			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:10476499C>G	ENST00000525621.1	-	7	1186	c.705G>C	c.(703-705)cgG>cgC	p.R235R	TYK2_ENST00000524462.1_Silent_p.R50R|TYK2_ENST00000529370.1_Silent_p.R235R|TYK2_ENST00000264818.6_Silent_p.R235R	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	235	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGAAGACGTTCCGAAGGCGCA	0.657													4	22					0	0	0	0	G	10476499	C	G	10476499	2	3	273	1	0	0	0	0	0	0	0	1	16906	842	30	2		2	TYK2	19	10476499	Silent	SNP	C	TCGA-CV-7090-01A-11D-2012-08	4770559	10476499	48652484	42	49045											
ZNF676	163223	broad.mit.edu	37	chr19	22364284	22364284	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaactaatttttaagtgtaAattctcatgtccacatttgt	13	17	4	7	0	1	0	1	0	1	0	3	0	2	0	1	0	1	1	1	0	5	7			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:22364284A>T	ENST00000397121.2	-	3	552	c.235T>A	c.(235-237)Tta>Ata	p.L79I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTTAAGTGTAAATTCTCATGT	0.338													5	54					0	0	0	0	T	22364284	A	T	22364284	3	4	273	1	0	0	0	0	1	0	0	0	18178	11	1	5	1535	5	ZNF676	19	22364284	Missense_Mutation	SNP	A	TCGA-CV-7090-01A-11D-2012-08	11887785	22364284	36764699	43	49046											
CHST8	64377	broad.mit.edu	37	chr19	34263279	34263279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaccgcgtgctctactgcGaggtgcccaaggccggctgc	5	6	14	16	4	1	0	0	0	1	0	1	1	1	0	4	3	5	2	4	3	2	1			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:34263279G>A	ENST00000262622.3	+	4	1344	c.586G>A	c.(586-588)Gag>Aag	p.E196K	CHST8_ENST00000434302.1_Missense_Mutation_p.E196K|CHST8_ENST00000438847.2_Missense_Mutation_p.E196K	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	196					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCTCTACTGCGAGGTGCCCAA	0.692													18	46					0	0	0	0	A	34263279	G	A	34263279	3	1	273	1	0	0	0	0	1	0	0	0	3439	1059	37	1	596	1	CHST8	19	34263279	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	11898995	34263279	24865704	44	49047											
ZNF146	7705	broad.mit.edu	37	chr19	36727775	36727775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggcaaatccaaccttactGagcatgagaaaatccatatt	15	10	7	9	0	0	2	0	2	0	1	2	3	2	2	3	1	3	2	3	1	6	3			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:36727775G>A	ENST00000456324.1	+	3	1882	c.433G>A	c.(433-435)Gag>Aag	p.E145K	ZNF146_ENST00000443387.2_Missense_Mutation_p.E145K|ZNF565_ENST00000355114.5_Intron	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	145					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					CAACCTTACTGAGCATGAGAA	0.418													8	84					0	0	0	0	A	36727775	G	A	36727775	3	1	273	1	0	0	0	0	1	0	0	0	17828	1291	45	2	435	2	ZNF146	19	36727775	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	2464496	36727775	22401208	45	49048											
BCAM	4059	broad.mit.edu	37	chr19	45317520	45317520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggacggcagccccagccCggagtatacgcttttccgcc	6	6	14	15	4	0	0	0	0	0	0	1	2	1	2	5	4	3	3	5	4	2	4			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:45317520C>T	ENST00000391955.1	+	7	940	c.896C>T	c.(895-897)cCg>cTg	p.P299L	BCAM_ENST00000270233.6_Missense_Mutation_p.P299L			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	299	Ig-like C2-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCCCCAGCCCGGAGTATACG	0.657													20	72					0	0	0	0	T	45317520	C	T	45317520	3	4	273	1	0	0	0	0	1	0	0	0	1348	652	23	1	922	1	BCAM	19	45317520	Missense_Mutation	SNP	C	TCGA-CV-7090-01A-11D-2012-08	8589745	45317520	13811463	46	49049											
ZNF480	147657	broad.mit.edu	37	chr19	52825750	52825750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaactttcaaatcttgcacGacatcgaagaattcatactg	14	12	5	10	2	4	1	3	0	1	1	5	3	4	1	0	0	3	1	0	0	5	4			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:52825750G>A	ENST00000595962.1	+	5	1313	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	ZNF480_ENST00000334564.7_Missense_Mutation_p.R373Q|ZNF480_ENST00000335090.6_Missense_Mutation_p.R339Q|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.R397Q(1)|p.R416Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AATCTTGCACGACATCGAAGA	0.368													12	87					0	0	0	0	A	52825750	G	A	52825750	3	1	273	1	0	0	0	0	1	0	0	0	18030	1058	37	1	1261	1	ZNF480	19	52825750	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	7508230	52825750	6303233	47	49050											
PAK7	57144	broad.mit.edu	37	chr20	9546621	9546621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtttccctgtgtgtttctcGgtggcgatgcatacgatgcc	4	15	12	10	3	1	0	0	0	1	0	3	2	2	0	2	2	3	3	2	2	1	3			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr20:9546621G>A	ENST00000378429.3	-	6	1947	c.1401C>T	c.(1399-1401)acC>acT	p.T467T	PAK7_ENST00000378423.1_Silent_p.T467T|PAK7_ENST00000353224.5_Silent_p.T467T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	467	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.T467T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGTGTTTCTCGGTGGCGATGC	0.522													22	144					0	0	0	0	A	9546621	G	A	9546621	2	1	273	1	0	0	0	0	0	0	0	1	11476	1103	39	1		1	PAK7	20	9546621	Silent	SNP	G	TCGA-CV-7090-01A-11D-2012-08		9546621	53478899	48	49051											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343													6	69					0	0	0	0	C	11058353	T	C	11058353	1	2	273	0	1	0	0	0	0	0	0	0	1296	1769	61	5		5	BAGE2	21	11058353	RNA	SNP	T	TCGA-CV-7090-01A-11D-2012-08		11058353	37071542	49	49052											
RUNX1	861	broad.mit.edu	37	chr21	36171600	36171601	+	Frame_Shift_Ins	INS	-	-	A																															gttttcaagtggcttacttgINSagagtcgactggaaagttct																										TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr21:36171600_36171601insA	ENST00000344691.4	-	5	2460_2461	c.883_884insT	c.(883-885)aacfs	p.N295fs	RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.N322fs|RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.N322fs|RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.N231fs|RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.N310fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	295	Interaction with MYST3.|Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S322fs*160(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGGCTTACTTGAGAGTCGACTG	0.52			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"								14	81	---	---	---	---					A	36171601	-	A	36171600	7	5	273	1	0	1	1	0	0	0	0	0	13831	1294	45	0	485	0	RUNX1	21	36171600	Frame_Shift_Ins	INS	-	TCGA-CV-7090-01A-11D-2012-08	25113247	36171600	11958295	50	49053											
TBX22	50945	broad.mit.edu	37	chrX	79282319	79282319	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgttaaaacattctcCtttaaagaaactgagttcac	15	12	7	7	0	2	2	1	1	1	1	3	3	2	2	1	1	2	2	1	1	6	5			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chrX:79282319C>A	ENST00000442340.1	+	6	880	c.390C>A	c.(388-390)tcC>tcA	p.S130S	TBX22_ENST00000373291.1_Silent_p.S130S|TBX22_ENST00000373294.5_Silent_p.S250S|TBX22_ENST00000373296.3_Silent_p.S250S	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	250					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAACATTCTCCTTTAAAGAAA	0.478													22	15					1.10513e-12	1.00498e-11	1	0	A	79282319	C	A	79282319	2	1	273	1	0	0	0	0	0	0	0	1	15752	668	24	4		4	TBX22	23	79282319	Silent	SNP	C	TCGA-CV-7090-01A-11D-2012-08		79282319	75988241	51	49054											
HPRT1	3251	broad.mit.edu	37	chrX	133609219	133609219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttctgtaggactgaacGtcttgctcgagatgtgatga	9	15	11	6	2	2	4	0	3	2	1	3	6	2	5	0	1	2	2	0	1	3	4			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chrX:133609219G>A	ENST00000298556.7	+	3	302	c.143G>A	c.(142-144)cGt>cAt	p.R48H	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	48			R -> H (in GOUT-HPRT; AD and DD).		adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	p.R48H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Mercaptopurine(DB01033)|Thioguanine(DB00352)	AGGACTGAACGTCTTGCTCGA	0.403													7	25					0	0	0	0	A	133609219	G	A	133609219	3	1	273	1	0	0	0	0	1	0	0	0	7388	1145	40	1	153	1	HPRT1	23	133609219	Missense_Mutation	SNP	G	TCGA-CV-7090-01A-11D-2012-08	54326900	133609219	21661341	52	49055											
PRDM16	63976	broad.mit.edu	37	chr1	3322204	3322204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccacagcacggtgaagcCtttcatatgtgagtggtcgc	9	11	11	10	2	1	2	1	2	0	0	3	2	2	2	2	2	2	1	2	2	3	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:3322204C>T	ENST00000378398.3	+	9	1263	c.1181C>T	c.(1180-1182)cCt>cTt	p.P394L	PRDM16_ENST00000442529.2_Missense_Mutation_p.P393L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P393L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P394L|PRDM16_ENST00000511072.1_Missense_Mutation_p.P394L|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.P393L|PRDM16_ENST00000270722.5_Missense_Mutation_p.P393L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	393					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACGGTGAAGCCTTTCATATGT	0.701			T	EVI1	"MDS, AML"								14	76					0	0	0	0	T	3322204	C	T	3322204	3	4	274	1	0	0	0	0	1	0	0	0	12537	681	24	4	1208	4	PRDM16	1	3322204	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08		3322204	245928417	1	49056											
CASZ1	54897	broad.mit.edu	37	chr1	10719786	10719786	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagacggtccccgtggtgAtggagtctgttttggagaag	7	11	17	6	2	1	3	0	1	1	2	2	6	2	4	2	5	0	1	2	5	1	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:10719786A>T	ENST00000377022.3	-	6	1630	c.1313T>A	c.(1312-1314)aTc>aAc	p.I438N	CASZ1_ENST00000344008.5_Missense_Mutation_p.I438N	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCCGTGGTGATGGAGTCTGT	0.632													13	60					0	0	0	0	T	10719786	A	T	10719786	3	4	274	1	0	0	0	0	1	0	0	0	2710	333	12	5	4034	5	CASZ1	1	10719786	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	7397582	10719786	238530835	2	49057											
RBBP4	5928	broad.mit.edu	37	chr1	33134662	33134664	+	In_Frame_Del	DEL	AGA	AGA	-																															acagggcatacggcagtagtAgaagatgtttcctggcatct																										TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:33134662_33134664delAGA	ENST00000373493.5	+	6	849_851	c.690_692delAGA	c.(688-693)gta>gt	p.VE230del	RBBP4_ENST00000458695.2_In_Frame_Del_p.VE195del|RBBP4_ENST00000544435.1_5'UTR|RBBP4_ENST00000524393.1_3'UTR|RBBP4_ENST00000414241.3_In_Frame_Del_p.VE229del|RBBP4_ENST00000373485.1_In_Frame_Del_p.VE230del	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	230					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CGGCAGTAGTAGAAGATGTTTCC	0.433													24	60	---	---	---	---					-	33134664	AGA	-	33134662	7	5	274	1	0	1	0	1	0	0	0	0	13183	407	15	0	712	0	RBBP4	1	33134662	In_Frame_Del	DEL	AGA	TCGA-CV-7091-01A-11D-2012-08	22414876	33134662	216115959	3	49058											
RPF1	80135	broad.mit.edu	37	chr1	84946675	84946675	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaaaaacttaaaaaagaaAgagaggctcttggcgataag	21	6	10	4	1	1	3	0	0	1	3	1	5	1	3	0	2	1	1	0	2	8	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:84946675A>G	ENST00000370654.5	+	2	280	c.265A>G	c.(265-267)Aga>Gga	p.R89G	RPF1_ENST00000370656.1_Missense_Mutation_p.R89G	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	89					rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	p.E90fs*5(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TAAAAAAGAAAGAGAGGCTCT	0.303													29	35					0	0	0	0	G	84946675	A	G	84946675	3	3	274	1	0	0	0	0	1	0	0	0	13631	64	3	5	271	5	RPF1	1	84946675	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	51812013	84946675	164303946	4	49059											
COL11A1	1301	broad.mit.edu	37	chr1	103480090	103480090	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcctgctgaagaatagcttGagcctgagcttcctgagcag	10	9	12	10	0	0	5	0	4	0	1	1	5	1	5	3	0	6	4	3	0	3	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:103480090G>C	ENST00000358392.2	-	13	1902	c.1585C>G	c.(1585-1587)Caa>Gaa	p.Q529E	COL11A1_ENST00000512756.1_Missense_Mutation_p.Q401E|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q478E|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q517E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	517	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGAATAGCTTGAGCCTGAGCT	0.418													8	31					0	0	0	0	C	103480090	G	C	103480090	3	2	274	1	0	0	0	0	1	0	0	0	3697	1299	45	2	4091	2	COL11A1	1	103480090	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	18533415	103480090	145770531	5	49060											
PRPF38B	55119	broad.mit.edu	37	chr1	109241970	109241980	+	Frame_Shift_Del	DEL	GGGGTTAGAAC	GGGGTTAGAAC	-																															agatcccgaagtattgaccgGgggttagaacgcaggcgcag																								rs3210429		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:109241970_109241980delGGGGTTAGAAC	ENST00000370021.1	+	7	1273_1283	c.636_646delGGGGTTAGAAC	c.(634-648)cggcfs	p.RGLER212fs	PRPF38B_ENST00000370025.4_Frame_Shift_Del_p.RGLER323fs			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	323					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GTATTGACCGGGGGTTAGAACGCAGGCGCAG	0.488													22	42	---	---	---	---					-	109241980	GGGGTTAGAAC	-	109241970	7	5	274	1	0	1	0	1	0	0	0	0	12648	1219	43	0	991	0	PRPF38B	1	109241970	Frame_Shift_Del	DEL	GGGGTTAGAAC	TCGA-CV-7091-01A-11D-2012-08	5761880	109241970	140008651	6	49061											
RPTN	126638	broad.mit.edu	37	chr1	152128471	152128471	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttgtctgtttggttgActgtagtgggaaccctggcc	5	14	13	9	0	1	2	0	2	1	0	1	3	1	3	3	3	1	3	3	3	2	4			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:152128471A>T	ENST00000316073.3	-	3	1168	c.1104T>A	c.(1102-1104)agT>agA	p.S368R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	368	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTTTGGTTGACTGTAGTGGG	0.463													163	824					0	0	0	0	T	152128471	A	T	152128471	3	4	274	1	0	0	0	0	1	0	0	0	13749	272	10	5	1254	5	RPTN	1	152128471	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	42886501	152128471	97122150	7	49062											
NUP210L	91181	broad.mit.edu	37	chr1	154029336	154029336	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttcttcccatcttgtcCttggcaatagccacaagtgt	8	16	6	11	0	2	0	0	0	2	0	4	0	4	0	3	1	1	1	3	1	4	7			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:154029336C>T	ENST00000368559.3	-	23	3266	c.3195G>A	c.(3193-3195)aaG>aaA	p.K1065K	NUP210L_ENST00000271854.3_Silent_p.K1065K|NUP210L_ENST00000368553.1_5'UTR	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1065						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCATCTTGTCCTTGGCAATAG	0.388													6	66					0	0	0	0	T	154029336	C	T	154029336	2	4	274	1	0	0	0	0	0	0	0	1	10832	680	24	4		4	NUP210L	1	154029336	Silent	SNP	C	TCGA-CV-7091-01A-11D-2012-08	1900865	154029336	95221285	8	49063											
FCRL4	83417	broad.mit.edu	37	chr1	157557696	157557696	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttgatctaaatacatcaTtctcgtctccatatccaatg	13	15	3	10	1	4	1	1	1	3	0	7	1	5	1	2	0	1	0	2	0	6	5			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:157557696T>A	ENST00000271532.1	-	4	656	c.521A>T	c.(520-522)aAt>aTt	p.N174I	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	174	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AAATACATCATTCTCGTCTCC	0.318													6	19					0	0	0	0	A	157557696	T	A	157557696	3	1	274	1	0	0	0	0	1	0	0	0	5842	1493	52	5	1062	5	FCRL4	1	157557696	Missense_Mutation	SNP	T	TCGA-CV-7091-01A-11D-2012-08	3528360	157557696	91692925	9	49064											
KIRREL	55243	broad.mit.edu	37	chr1	158046036	158046036	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgggctggccctgggcatGggccagggcctcaaaggtga	7	5	18	11	1	1	1	1	1	0	0	1	2	1	1	3	6	0	2	3	6	1	0			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:158046036G>C	ENST00000368173.3	+	2	590	c.186G>C	c.(184-186)atG>atC	p.M62I	KIRREL_ENST00000392272.2_Missense_Mutation_p.M62I|KIRREL_ENST00000360089.4_Start_Codon_SNP_p.M1I|KIRREL_ENST00000359209.6_Missense_Mutation_p.M62I|KIRREL_ENST00000416935.2_Intron	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	62	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCCTGGGCATGGGCCAGGGCC	0.602													40	98					0	0	0	0	C	158046036	G	C	158046036	3	2	274	1	0	0	0	0	1	0	0	0	8376	1348	47	4	192	4	KIRREL	1	158046036	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	488340	158046036	91204585	10	49065											
USP21	27005	broad.mit.edu	37	chr1	161130531	161130531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatttgcccccagggcccGcagcaaggagcgcagaaacc	11	3	11	16	2	0	1	0	0	0	1	0	2	0	2	5	2	4	3	5	2	2	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:161130531G>A	ENST00000368002.3	+	3	478	c.101G>A	c.(100-102)cGc>cAc	p.R34H	USP21_ENST00000368001.1_Missense_Mutation_p.R34H|USP21_ENST00000289865.8_Missense_Mutation_p.R34H	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	34					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCCAGGGCCCGCAGCAAGGAG	0.632													43	88					0	0	0	0	A	161130531	G	A	161130531	3	1	274	1	0	0	0	0	1	0	0	0	17149	1087	38	1	103	1	USP21	1	161130531	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	3084495	161130531	88120090	11	49066											
FMO1	2326	broad.mit.edu	37	chr1	171247913	171247913	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttcatagccggcaatataAgcatccagatatatttaagg	14	12	7	8	1	1	1	1	0	0	1	2	1	2	1	2	2	2	2	2	2	7	8			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:171247913A>G	ENST00000354841.4	+	4	661	c.530A>G	c.(529-531)aAg>aGg	p.K177R	FMO1_ENST00000367750.3_Missense_Mutation_p.K177R|FMO1_ENST00000402921.2_Missense_Mutation_p.K114R|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	177					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CGGCAATATAAGCATCCAGAT	0.408													3	87					0	0	0	0	G	171247913	A	G	171247913	3	3	274	1	0	0	0	0	1	0	0	0	5999	72	3	5	544	5	FMO1	1	171247913	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	10117382	171247913	78002708	12	49067											
PIK3C2B	5287	broad.mit.edu	37	chr1	204403072	204403072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaagacaaagggggcaCggtccctgagccaaggggaa	13	3	17	8	1	0	3	0	2	0	1	1	4	1	4	2	6	1	1	2	6	4	0			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:204403072C>T	ENST00000367187.3	-	26	4248	c.3692G>A	c.(3691-3693)cGt>cAt	p.R1231H	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1203H|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1231	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AAAGGGGGCACGGTCCCTGAG	0.557													8	62					0	0	0	0	T	204403072	C	T	204403072	3	4	274	1	0	0	0	0	1	0	0	0	11982	536	19	1	1248	1	PIK3C2B	1	204403072	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	33155159	204403072	44847549	13	49068											
MTR	4548	broad.mit.edu	37	chr1	237060420	237060420	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagatttccaaggatcaggTaagctagctgttgcattata	13	12	10	6	0	1	1	1	0	0	1	2	3	2	2	1	2	3	5	1	2	6	6			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:237060420T>C	ENST00000366577.5	+	32	4105		c.e32+2		MTR_ENST00000470570.1_Splice_Site|MTR_ENST00000535889.1_Splice_Site	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAGGATCAGGTAAGCTAGCTG	0.403													19	99					0	0	0	0	C	237060420	T	C	237060420	5	2	274	1	0	0	0	0	0	0	1	0	10028	1652	57	5	3839	5	MTR	1	237060420	Splice_Site	SNP	T	TCGA-CV-7091-01A-11D-2012-08	32657348	237060420	12190201	14	49069											
LTBP1	4052	broad.mit.edu	37	chr2	33412051	33412051	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagcgtgcctaaactttatCagcattcccagcagccaggc	10	8	8	15	1	1	0	1	0	0	0	2	0	2	0	4	1	6	2	4	1	3	4			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:33412051C>T	ENST00000404816.2	+	6	1683	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	LTBP1_ENST00000404525.1_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.Q444*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.Q118*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	444					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAAACTTTATCAGCATTCCCA	0.512													18	50					0	0	0	0	T	33412051	C	T	33412051	4	4	274	1	0	0	0	0	0	1	0	0	9137	827	29	2	1407	2	LTBP1	2	33412051	Nonsense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08		33412051	209787322	15	49070											
CTNNA2	1496	broad.mit.edu	37	chr2	80097053	80097053	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaactatgtagcagcaagaAgacaacaggtgggaaagatt	17	8	11	5	0	0	3	0	0	0	3	0	4	0	4	0	2	4	3	0	2	7	4			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:80097053A>G	ENST00000466387.1	+	9	1301	c.577A>G	c.(577-579)Aga>Gga	p.R193G	CTNNA2_ENST00000496558.1_Missense_Mutation_p.R193G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R193G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R227G|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R193G|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R193G			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	193					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCAGCAAGAAGACAACAGGT	0.403													16	68					0	0	0	0	G	80097053	A	G	80097053	3	3	274	1	0	0	0	0	1	0	0	0	4045	64	3	5	591	5	CTNNA2	2	80097053	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	46685002	80097053	163102320	16	49071											
NEB	4703	broad.mit.edu	37	chr2	152586143	152586143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttacctctcccggcacctCttcgtaaaccacttcttctg	6	13	4	18	2	4	0	0	0	4	0	6	0	4	0	5	1	2	2	5	1	3	5			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:152586143C>T	ENST00000397345.3	-	4	266	c.64G>A	c.(64-66)Gag>Aag	p.E22K	NEB_ENST00000603639.1_Missense_Mutation_p.E22K|NEB_ENST00000409198.1_Missense_Mutation_p.E22K|NEB_ENST00000604864.1_Missense_Mutation_p.E22K|NEB_ENST00000172853.10_Missense_Mutation_p.E22K|NEB_ENST00000427231.2_Missense_Mutation_p.E22K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	22					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCCGGCACCTCTTCGTAAACC	0.493													42	65					0	0	0	0	T	152586143	C	T	152586143	3	4	274	1	0	0	0	0	1	0	0	0	10372	922	32	2	26338	2	NEB	2	152586143	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	72489090	152586143	90613230	17	49072											
SCN9A	6335	broad.mit.edu	37	chr2	167060716	167060716	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttgtcactaggtcaaatAtacatccttggattttgttc	10	17	7	7	0	2	0	2	0	0	0	4	2	3	1	1	2	1	1	1	2	4	8			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:167060716A>G	ENST00000303354.6	-	26	4866	c.4526T>C	c.(4525-4527)aTa>aCa	p.I1509T	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.I1497T|SCN9A_ENST00000409435.1_Missense_Mutation_p.I1508T|SCN9A_ENST00000375387.4_Missense_Mutation_p.I1509T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1508						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAGGTCAAATATACATCCTTG	0.318													17	24					0	0	0	0	G	167060716	A	G	167060716	3	3	274	1	0	0	0	0	1	0	0	0	14012	449	16	5	1451	5	SCN9A	2	167060716	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	14474573	167060716	76138657	18	49073											
TTN	7273	broad.mit.edu	37	chr2	179528604	179528604	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagggcactttctcttcgcgGataacctctttggaagcttc	8	13	9	11	2	2	0	0	0	2	0	5	2	2	2	1	3	2	2	1	3	3	5			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:179528604G>A	ENST00000589042.1	-	170	36614	c.36390C>T	c.(36388-36390)atC>atT	p.I12130I	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10279	Ig-like 80.						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)			TCTCTTCGCGGATAACCTCTT	0.423													84	202					0	0	0	0	A	179528604	G	A	179528604	2	1	274	1	0	0	0	0	0	0	0	1	16831	1189	41	2		2	TTN	2	179528604	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08	12467888	179528604	63670769	19	49074											
COL5A2	1290	broad.mit.edu	37	chr2	189906418	189906418	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccaactgggcctggaggaCcctgcaagaaacaaagactg	14	4	12	11	0	0	2	0	0	0	2	0	5	0	4	3	3	3	1	3	3	4	0			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:189906418C>T	ENST00000374866.3	-	50	3801	c.3525_splice	c.e50-1	p.G1176_splice		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1176					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCCTGGAGGACCCTGCAAGAA	0.448													29	74					0	0	0	0	T	189906418	C	T	189906418	5	4	274	1	0	0	0	0	0	0	1	0	3727	521	18	4	992	4	COL5A2	2	189906418	Splice_Site	SNP	C	TCGA-CV-7091-01A-11D-2012-08	10377814	189906418	53292955	20	49075											
DNAH7	56171	broad.mit.edu	37	chr2	196718132	196718132	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaaatgaggatatcccCagtcaagttgatgtacagct	13	9	12	7	0	1	2	1	2	0	0	2	5	2	5	2	3	2	3	2	3	4	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:196718132C>A	ENST00000312428.6	-	46	8816	c.8716G>T	c.(8716-8718)Ggg>Tgg	p.G2906W		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2906					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGATATCCCCAGTCAAGTTG	0.507													22	23					1.28384e-07	3.0372e-07	1	0	A	196718132	C	A	196718132	3	1	274	1	0	0	0	0	1	0	0	0	4642	594	21	4	3438	4	DNAH7	2	196718132	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	6811714	196718132	46481241	21	49076											
MDH1B	130752	broad.mit.edu	37	chr2	207605810	207605810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagatttttttcttcatcaGggaccagatctttatgtcct	8	18	6	9	0	4	2	2	0	2	2	5	3	5	3	2	1	0	0	2	1	2	7			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:207605810G>A	ENST00000374412.3	-	10	1702	c.1427C>T	c.(1426-1428)cCt>cTt	p.P476L	MDH1B_ENST00000449792.1_Missense_Mutation_p.P378L|MDH1B_ENST00000454776.2_Missense_Mutation_p.P476L	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	476					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTCTTCATCAGGGACCAGATC	0.338													20	25					0	0	0	0	A	207605810	G	A	207605810	3	1	274	1	0	0	0	0	1	0	0	0	9478	1000	35	4	141	4	MDH1B	2	207605810	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	10887678	207605810	35593563	22	49077											
TBC1D5	9779	broad.mit.edu	37	chr3	17418038	17418038	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggctgtgcagactcactgGcatgtagaaaagcttggtgg	9	10	15	7	0	1	2	1	0	0	2	1	2	1	2	0	4	2	5	0	4	3	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:17418038G>C	ENST00000253692.7	-	10	2344	c.680C>G	c.(679-681)gCc>gGc	p.A227G	TBC1D5_ENST00000446818.2_Missense_Mutation_p.A227G|TBC1D5_ENST00000429924.2_Missense_Mutation_p.A179G|TBC1D5_ENST00000429383.4_Missense_Mutation_p.A227G|TBC1D5_ENST00000414318.2_Intron	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	227	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGACTCACTGGCATGTAGAAA	0.403													19	36					0	0	0	0	C	17418038	G	C	17418038	3	2	274	1	0	0	0	0	1	0	0	0	15717	1203	42	4	1829	4	TBC1D5	3	17418038	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08		17418038	180604392	23	49078											
AZI2	64343	broad.mit.edu	37	chr3	28365639	28365639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccccaaatgctgtctcaCttgatttaggaggacttgga	9	14	9	9	0	1	1	1	1	1	0	3	4	2	4	2	3	1	1	2	3	2	5			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:28365639C>T	ENST00000479665.1	-	8	1604	c.1073G>A	c.(1072-1074)aGt>aAt	p.S358N	AZI2_ENST00000295748.3_5'UTR|CMC1_ENST00000466830.1_3'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	358						mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TGCTGTCTCACTTGATTTAGG	0.398													32	43					0	0	0	0	T	28365639	C	T	28365639	3	4	274	1	0	0	0	0	1	0	0	0	1245	565	20	4	109	4	AZI2	3	28365639	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	10947601	28365639	169656791	24	49079											
SEMA3B	7869	broad.mit.edu	37	chr3	50313227	50313227	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccccgctcgctgcaggcGcgcgtggagtggactttcca	5	7	15	14	5	0	0	0	0	0	0	2	3	1	2	3	3	2	3	3	3	0	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:50313227G>A	ENST00000418948.1	+	0	2031							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGCTGCAGGCGCGCGTGGAGT	0.692													13	19					0	0	0	0	A	50313227	G	A	50313227	1	1	274	0	1	0	0	0	0	0	0	0	14112	1074	38	1		1	SEMA3B	3	50313227	RNA	SNP	G	TCGA-CV-7091-01A-11D-2012-08	21947588	50313227	147709203	25	49080											
IFRD2	7866	broad.mit.edu	37	chr3	50330076	50330076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccctgcgcgcgccccagcCccgcgtcgggaacaagtgca	6	4	13	18	6	0	0	0	0	0	0	1	1	0	1	5	1	5	1	5	1	2	0			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:50330076C>A	ENST00000336089.4	-	2	228	c.229G>T	c.(229-231)Ggc>Tgc	p.G77C	IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	82							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCGCCCCAGCCCCGCGTCGGG	0.657													20	32					2.94398e-08	7.12754e-08	1	0	A	50330076	C	A	50330076	3	1	274	1	0	0	0	0	1	0	0	0	7607	638	22	4		4	IFRD2	3	50330076	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	16849	50330076	147692354	26	49081											
OR5H14	403273	broad.mit.edu	37	chr3	97868655	97868655	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgaccaatggactgtgcatCcggctattaatcttgtcata	11	13	8	9	1	2	1	1	1	1	0	3	2	3	2	2	2	1	2	2	2	4	4			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:97868655C>G	ENST00000437310.1	+	1	486	c.426C>G	c.(424-426)atC>atG	p.I142M		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GACTGTGCATCCGGCTATTAA	0.393													16	162					0	0	0	0	G	97868655	C	G	97868655	3	3	274	1	0	0	0	0	1	0	0	0	11231	845	30	2	428	2	OR5H14	3	97868655	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	47538579	97868655	100153775	27	49082											
ILDR1	286676	broad.mit.edu	37	chr3	121712107	121712107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggggagtgcgagccgcGgcggtgggcccgccagctct	3	6	20	12	5	1	0	0	0	1	0	1	2	1	1	3	5	3	1	3	5	0	0			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:121712107G>A	ENST00000273691.3	-	6	1462	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	ILDR1_ENST00000462014.1_Missense_Mutation_p.R465C|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.R497C|ILDR1_ENST00000393631.1_Missense_Mutation_p.R408C	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	497	Arg-rich.		R -> Q (in DFNB42; uncertain pathological significance).			cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGCGAGCCGCGGCGGTGGGCC	0.632													10	27					0	0	0	0	A	121712107	G	A	121712107	3	1	274	1	0	0	0	0	1	0	0	0	7762	1116	39	1	159	1	ILDR1	3	121712107	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	23843452	121712107	76310323	28	49083											
ALG1L2	644974	broad.mit.edu	37	chr3	129817127	129817127	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagctaaaccagttccggAagaacctgcgggagtcgcag	12	5	13	11	3	0	1	0	0	0	1	2	3	1	3	3	2	4	4	3	2	5	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:129817127A>C	ENST00000507643.1	+	0	709							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CCAGTTCCGGAAGAACCTGCG	0.522													3	79					0	0	0	0	C	129817127	A	C	129817127	1	2	274	0	1	0	0	0	0	0	0	0	518	261	9	5		5	ALG1L2	3	129817127	RNA	SNP	A	TCGA-CV-7091-01A-11D-2012-08	8105020	129817127	68205303	29	49084											
SHOX2	6474	broad.mit.edu	37	chr3	157815817	157815817	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attggtgctggcgttggcgtCacagacccagggctgcggcg	5	8	17	11	4	1	1	1	0	0	1	1	1	1	1	1	5	2	3	1	5	0	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:157815817C>T	ENST00000490689.2	-	5	2105	c.572G>A	c.(571-573)tGa>tAa	p.*191*	SHOX2_ENST00000425436.3_Silent_p.*332*|SHOX2_ENST00000389589.4_Silent_p.*356*|SHOX2_ENST00000483851.2_Silent_p.*320*|SHOX2_ENST00000441443.2_Silent_p.*191*			O60902	SHOX2_HUMAN	short stature homeobox 2	0					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.*356L(1)|p.*191L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCGTTGGCGTCACAGACCCAG	0.657													141	470					0	0	0	0	T	157815817	C	T	157815817	2	4	274	1	0	0	0	0	0	0	0	1	14377	837	29	2		2	SHOX2	3	157815817	Silent	SNP	C	TCGA-CV-7091-01A-11D-2012-08	27998690	157815817	40206613	30	49085											
NLGN1	22871	broad.mit.edu	37	chr3	173996813	173996813	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaagaagccttacaaagAacttgttgaccaagatattc	17	9	7	8	0	0	5	0	1	0	4	1	5	0	5	2	0	3	1	2	0	7	5			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:173996813A>T	ENST00000457714.1	+	6	1451	c.1022A>T	c.(1021-1023)gAa>gTa	p.E341V	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.E381V|NLGN1_ENST00000361589.4_Missense_Mutation_p.E341V|NLGN1_ENST00000545397.1_Missense_Mutation_p.E341V	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	358					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCTTACAAAGAACTTGTTGAC	0.423													43	123					0	0	0	0	T	173996813	A	T	173996813	3	4	274	1	0	0	0	0	1	0	0	0	10531	246	9	5	1036	5	NLGN1	3	173996813	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	16180996	173996813	24025617	31	49086											
ATP13A3	79572	broad.mit.edu	37	chr3	194152587	194152587	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaatcattccacaatcTctggccacagagacagcagt	13	8	9	11	0	2	2	1	0	1	2	4	3	3	2	2	2	1	2	2	2	3	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:194152587T>A	ENST00000439040.1	-	22	3071	c.2280A>T	c.(2278-2280)agA>agT	p.R760S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R760S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	760					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTCCACAATCTCTGGCCACAG	0.353													10	44					0	0	0	0	A	194152587	T	A	194152587	3	1	274	1	0	0	0	0	1	0	0	0	1129	1548	54	5	1448	5	ATP13A3	3	194152587	Missense_Mutation	SNP	T	TCGA-CV-7091-01A-11D-2012-08	20155774	194152587	3869843	32	49087											
DLG1	1739	broad.mit.edu	37	chr3	197009585	197009585	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggctgcttggcagtgtctCtgaagtcacagtagagcttg	9	11	13	8	0	2	2	1	1	1	1	3	2	2	2	0	2	2	5	0	2	3	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:197009585C>G	ENST00000346964.2	-	4	472	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000450955.1_Missense_Mutation_p.E95Q|DLG1_ENST00000314062.3_Missense_Mutation_p.E95Q|DLG1_ENST00000448528.2_Missense_Mutation_p.E95Q|DLG1_ENST00000419354.1_Missense_Mutation_p.E95Q|DLG1_ENST00000357674.4_Missense_Mutation_p.E95Q|DLG1_ENST00000392382.2_Missense_Mutation_p.E95Q|DLG1_ENST00000422288.1_Missense_Mutation_p.E95Q	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	95					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GGCAGTGTCTCTGAAGTCACA	0.398													14	150					0	0	0	0	G	197009585	C	G	197009585	3	3	274	1	0	0	0	0	1	0	0	0	4591	922	32	2	2627	2	DLG1	3	197009585	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	2856998	197009585	1012845	33	49088											
TADA2B	93624	broad.mit.edu	37	chr4	7056447	7056447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcggcagagtacgaggCagcgcggcataaacgggaga	13	3	17	8	5	0	3	0	0	0	3	1	5	0	3	0	4	3	4	0	4	3	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr4:7056447C>T	ENST00000310074.7	+	2	1118	c.929C>T	c.(928-930)gCa>gTa	p.A310V	TADA2B_ENST00000512388.1_Missense_Mutation_p.A235V|TADA2B_ENST00000515646.1_Missense_Mutation_p.A218V	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGTACGAGGCAGCGCGGCAT	0.557													28	36					0	0	0	0	T	7056447	C	T	7056447	3	4	274	1	0	0	0	0	1	0	0	0	15602	710	25	4	935	4	TADA2B	4	7056447	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08		7056447	184097829	34	49089											
C4orf21	55345	broad.mit.edu	37	chr4	113540154	113540155	+	Frame_Shift_Del	DEL	TG	TG	-																															tgggccttgggtttcctttcTgtatcattcccatctacagt																										TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr4:113540154_113540155delTG	ENST00000505019.1	-	6	1168_1169	c.1043_1044delCA	c.(1042-1044)afs	p.T348fs	C4orf21_ENST00000445203.2_Frame_Shift_Del_p.T317fs|C4orf21_ENST00000309071.5_Frame_Shift_Del_p.T348fs	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	348										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTTTCCTTTCTGTATCATTCCC	0.366													23	41	---	---	---	---					-	113540155	TG	-	113540154	7	5	274	1	0	1	0	1	0	0	0	0	2275	1567	55	0	5362	0	C4orf21	4	113540154	Frame_Shift_Del	DEL	TG	TCGA-CV-7091-01A-11D-2012-08	106483707	113540154	77614122	35	49090											
POU4F2	5458	broad.mit.edu	37	chr4	147560567	147560567	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctatgcggagagcctgtcTtccaaccccaccggtgcgta	7	8	12	14	3	1	1	0	0	1	1	2	2	2	1	5	3	4	2	5	3	3	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr4:147560567T>A	ENST00000281321.3	+	1	523	c.275T>A	c.(274-276)cTt>cAt	p.L92H		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	92					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					AGAGCCTGTCTTCCAACCCCA	0.622													14	22					0	0	0	0	A	147560567	T	A	147560567	3	1	274	1	0	0	0	0	1	0	0	0	12350	1609	56	5	277	5	POU4F2	4	147560567	Missense_Mutation	SNP	T	TCGA-CV-7091-01A-11D-2012-08	34020413	147560567	43593709	36	49091											
TMEM192	201931	broad.mit.edu	37	chr4	166000814	166000814	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgaccgtgagcctctcacGttctacttggctgacagccc	7	10	9	15	2	2	3	1	3	2	0	3	3	2	3	3	1	3	2	3	1	1	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr4:166000814G>C	ENST00000306480.5	-	6	957	c.812C>G	c.(811-813)aCg>aGg	p.T271R	TMEM192_ENST00000506087.1_Missense_Mutation_p.T267R	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	271						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		AGCCTCTCACGTTCTACTTGG	0.527													6	17					0	0	0	0	C	166000814	G	C	166000814	3	2	274	1	0	0	0	0	1	0	0	0	16209	1145	40	3	7	3	TMEM192	4	166000814	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	18440247	166000814	25153462	37	49092											
FAT1	2195	broad.mit.edu	37	chr4	187627774	187627774	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatctctaatggagtatcGgatctccccatctcttctgg	7	13	8	13	1	4	0	0	0	4	0	8	2	4	2	3	3	0	1	3	3	2	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr4:187627774G>A	ENST00000441802.2	-	2	3417	c.3208C>T	c.(3208-3210)Cga>Tga	p.R1070*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1070	Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGAGTATCGGATCTCCCCA	0.443										HNSCC(5;0.00058)			49	70					0	0	0	0	A	187627774	G	A	187627774	4	1	274	1	0	0	0	0	0	1	0	0	5734	1124	39	1	10662	1	FAT1	4	187627774	Nonsense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	21626960	187627774	3526502	38	49093											
DNAH5	1767	broad.mit.edu	37	chr5	13719088	13719088	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatgggaaactgcttatgAgcctcggtggtcatccagag	10	10	13	8	1	1	2	1	1	0	1	3	3	2	3	2	3	3	2	2	3	3	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:13719088A>G	ENST00000265104.4	-	72	12506	c.12402T>C	c.(12400-12402)gcT>gcC	p.A4134A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4134	AAA 6 (By similarity).		A -> V (in dbSNP:rs30168).		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTGCTTATGAGCCTCGGTGG	0.468									Kartagener syndrome				25	115					0	0	0	0	G	13719088	A	G	13719088	2	3	274	1	0	0	0	0	0	0	0	1	4641	291	11	5		5	DNAH5	5	13719088	Silent	SNP	A	TCGA-CV-7091-01A-11D-2012-08		13719088	167196172	39	49094											
TRIO	7204	broad.mit.edu	37	chr5	14387624	14387624	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcatgcccatgcggcagaGataaaaaaatgtgttactgc	13	8	12	8	1	0	1	0	0	0	1	0	2	0	1	1	2	4	3	1	2	5	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:14387624G>A	ENST00000344204.4	+	22	3672	c.3648G>A	c.(3646-3648)gaG>gaA	p.E1216E	TRIO_ENST00000537187.1_Silent_p.E1216E|TRIO_ENST00000509967.2_Silent_p.E1167E	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1216					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATGCGGCAGAGATAAAAAAAT	0.438													5	137					0	0	0	0	A	14387624	G	A	14387624	2	1	274	1	0	0	0	0	0	0	0	1	16647	933	33	2		2	TRIO	5	14387624	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08	668536	14387624	166527636	40	49095											
LMBRD2	92255	broad.mit.edu	37	chr5	36124341	36124341	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaatgggtgattatacttGatgctttcattcactttacg	9	17	7	8	1	3	2	3	2	0	0	3	2	3	2	0	1	3	1	0	1	4	7			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:36124341G>C	ENST00000296603.4	-	7	1236	c.774C>G	c.(772-774)atC>atG	p.I258M		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	258						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATTATACTTGATGCTTTCAT	0.269													5	30					0	0	0	0	C	36124341	G	C	36124341	3	2	274	1	0	0	0	0	1	0	0	0	8898	1280	45	2	1361	2	LMBRD2	5	36124341	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	21736717	36124341	144790919	41	49096											
NIPBL	25836	broad.mit.edu	37	chr5	37057315	37057315	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgtgactatgctcttgtatAtagcagacaatctagcctgt	11	13	8	9	1	2	2	0	1	2	1	2	2	2	2	1	0	3	3	1	0	6	6			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:37057315A>G	ENST00000282516.8	+	43	7790	c.7291A>G	c.(7291-7293)Ata>Gta	p.I2431V	NIPBL_ENST00000448238.2_Missense_Mutation_p.I2431V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2431					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCTCTTGTATATAGCAGACAA	0.358													13	49					0	0	0	0	G	37057315	A	G	37057315	3	3	274	1	0	0	0	0	1	0	0	0	10498	449	16	5	7457	5	NIPBL	5	37057315	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	932974	37057315	143857945	42	49097											
COL4A3BP	10087	broad.mit.edu	37	chr5	74696051	74696051	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttttggacaaatctatgtgtCcccacagaagaaaaggcatc	14	10	8	9	0	1	2	0	0	1	2	3	3	2	3	2	2	0	1	2	2	5	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:74696051C>G	ENST00000380494.5	-	11	1766	c.1473G>C	c.(1471-1473)ggG>ggC	p.G491G	COL4A3BP_ENST00000405807.4_Silent_p.G363G|COL4A3BP_ENST00000261415.7_Silent_p.G363G	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	363	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATCTATGTGTCCCCACAGAAG	0.363													7	10					0	0	0	0	G	74696051	C	G	74696051	2	3	274	1	0	0	0	0	0	0	0	1	3722	842	30	2		2	COL4A3BP	5	74696051	Silent	SNP	C	TCGA-CV-7091-01A-11D-2012-08	37638736	74696051	106219209	43	49098											
PCDHA13	56136	broad.mit.edu	37	chr5	140263365	140263365	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgggcgagcgtgcgctGtcgagctacgtgtcggtgca	4	8	19	10	7	0	0	0	0	0	0	2	2	0	0	0	3	5	3	0	3	1	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:140263365G>A	ENST00000289272.2	+	1	1512	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.L504L|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTGCGCTGTCGAGCTACG	0.672													37	61					0	0	0	0	A	140263365	G	A	140263365	2	1	274	1	0	0	0	0	0	0	0	1	11594	1364	48	4		4	PCDHA13	5	140263365	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08	65567314	140263365	40651895	44	49099											
FCHSD1	89848	broad.mit.edu	37	chr5	141026991	141026991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtctgctccccgcggtGggcatgctccaggatgacct	4	10	14	13	2	1	1	0	1	1	0	3	2	3	2	4	4	2	4	4	4	0	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:141026991G>A	ENST00000435817.2	-	9	852	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522126.1_Missense_Mutation_p.H192Y|FCHSD1_ENST00000522783.1_Missense_Mutation_p.H266Y	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	268									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCGCGGTGGGCATGCTCC	0.622													9	10					0	0	0	0	A	141026991	G	A	141026991	3	1	274	1	0	0	0	0	1	0	0	0	5834	1348	47	4	1318	4	FCHSD1	5	141026991	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	763626	141026991	39888269	45	49100											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975992	32975992	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgaactggcccgaggcGccgtaagactggtagaaggc	9	6	17	9	3	0	3	0	1	0	2	0	4	0	3	2	5	1	2	2	5	4	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:32975992G>A	ENST00000229829.5	-	2	204	c.129C>T	c.(127-129)ggC>ggT	p.G43G	HLA-DOA_ENST00000450833.2_Silent_p.G13G	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	43	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGCCCGAGGCGCCGTAAGACT	0.537													14	47					0	0	0	0	A	32975992	G	A	32975992	2	1	274	1	0	0	0	0	0	0	0	1	7250	1074	38	1		1	HLA-DOA	6	32975992	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08		32975992	138139075	46	49101											
ZNF318	24149	broad.mit.edu	37	chr6	43322436	43322436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcacggttcttctcatcaGagatcttctctggattatat	10	15	7	9	1	5	1	2	0	4	1	7	3	5	2	0	2	1	2	0	2	3	5			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:43322436G>A	ENST00000361428.2	-	4	2713	c.2636C>T	c.(2635-2637)tCt>tTt	p.S879F	ZNF318_ENST00000318149.3_Missense_Mutation_p.S879F	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	879					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTCTCATCAGAGATCTTCTC	0.438													24	43					0	0	0	0	A	43322436	G	A	43322436	3	1	274	1	0	0	0	0	1	0	0	0	17931	942	33	2	4231	2	ZNF318	6	43322436	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	10346444	43322436	127792631	47	49102											
POLH	5429	broad.mit.edu	37	chr6	43582058	43582058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaggaccaagtgccctgtGagaagtgtggctccctggta	8	9	14	10	0	0	2	0	2	0	1	1	4	1	3	3	3	1	2	3	3	3	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:43582058G>A	ENST00000372236.4	+	11	2201	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	POLH_ENST00000535400.1_Missense_Mutation_p.E574K|POLH_ENST00000372226.1_3'UTR	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	636					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGTGCCCTGTGAGAAGTGTGG	0.502								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				32	136					0	0	0	0	A	43582058	G	A	43582058	3	1	274	1	0	0	0	0	1	0	0	0	12274	1291	45	2	1944	2	POLH	6	43582058	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	259622	43582058	127533009	48	49103											
PGK2	5232	broad.mit.edu	37	chr6	49754449	49754449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctagcttggaaagtgatgctCggaaggcttctattttatct	9	15	10	7	1	2	1	0	1	2	0	3	3	2	3	0	3	2	3	0	3	5	6			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:49754449C>T	ENST00000304801.3	-	1	604	c.452G>A	c.(451-453)cGa>cAa	p.R151Q		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	151					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAGTGATGCTCGGAAGGCTTC	0.498													19	83					0	0	0	0	T	49754449	C	T	49754449	3	4	274	1	0	0	0	0	1	0	0	0	11863	884	31	1	805	1	PGK2	6	49754449	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	6172391	49754449	121360618	49	49104											
GCLC	2729	broad.mit.edu	37	chr6	53373486	53373486	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacacatagcctcggtaaaaGggagatgcagcactcaaagc	15	5	11	10	1	1	1	1	0	0	1	2	3	1	1	1	2	4	3	1	2	4	2	rs17879847	byFrequency	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:53373486G>T	ENST00000229416.6	-	8	1335	c.852C>A	c.(850-852)ccC>ccA	p.P284P		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	284					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	p.P284P(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CTCGGTAAAAGGGAGATGCAG	0.443													13	95					3.27435e-08	7.83573e-08	1	0	T	53373486	G	T	53373486	2	4	274	1	0	0	0	0	0	0	0	1	6344	987	35	4		4	GCLC	6	53373486	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08	3619037	53373486	117741581	50	49105											
ZBTB2	57621	broad.mit.edu	37	chr6	151686959	151686959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatggtgtaagtgtcgatGctctggttgaggcacacgtg	8	11	14	8	2	1	1	0	1	1	0	2	2	1	1	1	3	1	4	1	3	1	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:151686959G>C	ENST00000325144.4	-	3	1382	c.1242C>G	c.(1240-1242)agC>agG	p.S414R		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AAGTGTCGATGCTCTGGTTGA	0.512													7	49					0	0	0	0	C	151686959	G	C	151686959	3	2	274	1	0	0	0	0	1	0	0	0	17623	1310	46	4	306	4	ZBTB2	6	151686959	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	98313473	151686959	19428108	51	49106											
TMEM106B	54664	broad.mit.edu	37	chr7	12263954	12263954	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacgtgaaatacattggtgtAaaatcagcctatgtcagtta	14	12	9	6	1	2	1	2	1	0	0	2	2	2	1	1	1	2	2	1	1	6	5			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr7:12263954A>G	ENST00000396667.2	+	5	706	c.384A>G	c.(382-384)gtA>gtG	p.V128V	TMEM106B_ENST00000396668.3_Silent_p.V128V	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	128						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		ACATTGGTGTAAAATCAGCCT	0.343													44	105					0	0	0	0	G	12263954	A	G	12263954	2	3	274	1	0	0	0	0	0	0	0	1	16115	349	13	5		5	TMEM106B	7	12263954	Silent	SNP	A	TCGA-CV-7091-01A-11D-2012-08		12263954	146874709	52	49107											
NPC1L1	29881	broad.mit.edu	37	chr7	44579405	44579405	+	Silent	SNP	G	G	A																															ttgagccagcgctgggcattGcaaagggcagagccatacac																										TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr7:44579405G>A	ENST00000289547.4	-	2	646	c.591C>T	c.(589-591)tgC>tgT	p.C197C	NPC1L1_ENST00000381160.3_Silent_p.C197C|NPC1L1_ENST00000423141.1_Silent_p.C197C|NPC1L1_ENST00000546276.1_Silent_p.C197C	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	197					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCTGGGCATTGCAAAGGGCAG	0.637													25	66					0	0	0	0	A	44579405	G	A	44579405	2	1	274	1	0	0	0	0	0	0	0	1	10641	1311	46	4		4	NPC1L1	7	44579405	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08	32315451	44579405	114559258	53	49108	383	2									
NPC1L1	29881	broad.mit.edu	37	chr7	44579406	44579406	+	Missense_Mutation	SNP	C	C	A																															tgagccagcgctgggcattgCaaagggcagagccatacacg																										TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr7:44579406C>A	ENST00000289547.4	-	2	645	c.590G>T	c.(589-591)tGc>tTc	p.C197F	NPC1L1_ENST00000381160.3_Missense_Mutation_p.C197F|NPC1L1_ENST00000423141.1_Missense_Mutation_p.C197F|NPC1L1_ENST00000546276.1_Missense_Mutation_p.C197F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	197					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTGGGCATTGCAAAGGGCAGA	0.637													25	66					5.35047e-06	1.25858e-05	1	0	A	44579406	C	A	44579406	3	1	274	1	0	0	0	0	1	0	0	0	10641	710	25	4	3565	4	NPC1L1	7	44579406	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	1	44579406	114559257	54	49109	383	2									
SLC25A13	10165	broad.mit.edu	37	chr7	95775995	95775995	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatttgtgaaaatcaccTgggagcctccagcctaaaaa	15	8	9	9	0	1	1	1	1	0	0	2	3	2	3	4	2	2	0	4	2	6	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr7:95775995T>A	ENST00000416240.2	-	14	1518	c.1328A>T	c.(1327-1329)cAg>cTg	p.Q443L	SLC25A13_ENST00000265631.5_Missense_Mutation_p.Q442L|SLC25A13_ENST00000542654.1_Missense_Mutation_p.Q334L	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	442					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GAAAATCACCTGGGAGCCTCC	0.433													63	73					0	0	0	0	A	95775995	T	A	95775995	3	1	274	1	0	0	0	0	1	0	0	0	14563	1580	55	5	722	5	SLC25A13	7	95775995	Missense_Mutation	SNP	T	TCGA-CV-7091-01A-11D-2012-08	51196589	95775995	63362668	55	49110											
MYOM2	9172	broad.mit.edu	37	chr8	2040177	2040177	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctcctacgaaaagttgTcccttctgctccgggtcggg	5	13	11	12	3	2	0	0	0	2	0	6	1	4	0	3	2	2	2	3	2	3	4			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:2040177T>C	ENST00000262113.4	+	16	1973	c.1832T>C	c.(1831-1833)gTc>gCc	p.V611A	MYOM2_ENST00000523438.1_Missense_Mutation_p.V36A	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	611					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGAAAAGTTGTCCCTTCTGCT	0.557													103	144					0	0	0	0	C	2040177	T	C	2040177	3	2	274	1	0	0	0	0	1	0	0	0	10162	1667	58	5	1890	5	MYOM2	8	2040177	Missense_Mutation	SNP	T	TCGA-CV-7091-01A-11D-2012-08		2040177	144323845	56	49111											
CSMD1	64478	broad.mit.edu	37	chr8	2820010	2820010	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaggtgggttgtatgccGctccacgtgccgtcagcttg	5	11	14	11	3	1	0	1	0	0	0	2	0	2	0	3	2	4	5	3	2	1	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:2820010G>A	ENST00000520002.1	-	62	10164	c.9609C>T	c.(9607-9609)agC>agT	p.S3203S	CSMD1_ENST00000542608.1_Silent_p.S3025S|CSMD1_ENST00000537824.1_Silent_p.S3202S|CSMD1_ENST00000602723.1_Silent_p.S3026S|CSMD1_ENST00000400186.3_Silent_p.S3026S|CSMD1_ENST00000602557.1_Silent_p.S3203S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3203	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTGTATGCCGCTCCACGTGC	0.468													7	47					0	0	0	0	A	2820010	G	A	2820010	2	1	274	1	0	0	0	0	0	0	0	1	3976	1078	38	1		1	CSMD1	8	2820010	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08	779833	2820010	143544012	57	49112											
PRSS55	203074	broad.mit.edu	37	chr8	10388887	10388887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggtcgccagcatcattCttcacaaagactttaagaga	14	9	9	9	1	3	2	2	0	1	2	4	4	3	3	1	2	1	1	1	2	2	4			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:10388887C>T	ENST00000328655.3	+	3	470	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.L144F	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	144	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CAGCATCATTCTTCACAAAGA	0.517													34	155					0	0	0	0	T	10388887	C	T	10388887	3	4	274	1	0	0	0	0	1	0	0	0	12713	913	32	2	440	2	PRSS55	8	10388887	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	7568877	10388887	135975135	58	49113											
WRN	7486	broad.mit.edu	37	chr8	30977842	30977842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattacggtgctcctaaggaCatggaatcatattatcagga	13	11	9	8	1	2	0	2	0	0	0	3	3	3	3	1	4	2	1	1	4	5	4			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:30977842C>A	ENST00000298139.5	+	21	2781	c.2532C>A	c.(2530-2532)gaC>gaA	p.D844E		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	844	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTCCTAAGGACATGGAATCAT	0.423			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				31	72					8.16721e-17	2.07437e-16	1	0	A	30977842	C	A	30977842	3	1	274	1	0	0	0	0	1	0	0	0	17498	477	17	4	2610	4	WRN	8	30977842	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	20588955	30977842	115386180	59	49114											
ARFGEF1	10565	broad.mit.edu	37	chr8	68150679	68150679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaatgtatcgaggtttcactCcagttcctataagctgtgcc	10	13	8	10	1	1	0	1	0	0	0	4	1	3	0	3	1	2	4	3	1	4	5			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:68150679C>G	ENST00000262215.3	-	22	3577	c.3188G>C	c.(3187-3189)gGa>gCa	p.G1063A	ARFGEF1_ENST00000518230.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.G517A	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1063					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGGTTTCACTCCAGTTCCTAT	0.393													18	37					0	0	0	0	G	68150679	C	G	68150679	3	3	274	1	0	0	0	0	1	0	0	0	854	855	30	2	2433	2	ARFGEF1	8	68150679	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	37172837	68150679	78213343	60	49115											
KCNB2	9312	broad.mit.edu	37	chr8	73850088	73850088	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggactccagcccaaattGctttgcagataagcctagtg	10	10	11	10	0	0	1	0	0	0	1	1	2	1	2	3	2	4	2	3	2	3	4			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:73850088G>C	ENST00000523207.1	+	3	3086	c.2498G>C	c.(2497-2499)tGc>tCc	p.C833S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	833					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGCCCAAATTGCTTTGCAGAT	0.537													21	51					0	0	0	0	C	73850088	G	C	73850088	3	2	274	1	0	0	0	0	1	0	0	0	8066	1319	46	4	2504	4	KCNB2	8	73850088	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	5699409	73850088	72513934	61	49116											
ZFHX4	79776	broad.mit.edu	37	chr8	77767248	77767248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaagccacattcgctctcgGcactggaatgaaggaaagca	14	6	11	10	2	1	1	0	1	1	0	3	4	1	3	1	3	2	3	1	3	4	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:77767248G>A	ENST00000521891.2	+	10	8539	c.8091G>A	c.(8089-8091)cgG>cgA	p.R2697R	ZFHX4_ENST00000050961.6_Silent_p.R2652R|ZFHX4_ENST00000455469.2_Silent_p.R2652R|ZFHX4_ENST00000518282.1_Silent_p.R2671R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2652						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCGCTCTCGGCACTGGAATG	0.512										HNSCC(33;0.089)			17	60					0	0	0	0	A	77767248	G	A	77767248	2	1	274	1	0	0	0	0	0	0	0	1	17730	1190	42	4		4	ZFHX4	8	77767248	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08	3917160	77767248	68596774	62	49117											
OSGIN2	734	broad.mit.edu	37	chr8	90926441	90926441	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctttccattgttgatcaGgtattatttcttacatgtca	9	19	5	8	0	4	1	2	1	2	0	5	1	5	1	1	1	1	2	1	1	3	7			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:90926441G>A	ENST00000451899.2	+	3	596	c.336_splice	c.e3+1	p.Q112_splice	OSGIN2_ENST00000520659.1_Splice_Site_p.Q112_splice|OSGIN2_ENST00000297438.2_Splice_Site_p.Q68_splice	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	68					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTGTTGATCAGGTATTATTTC	0.274													9	29					0	0	0	0	A	90926441	G	A	90926441	5	1	274	1	0	0	0	0	0	0	1	0	11361	1014	35	4	346	4	OSGIN2	8	90926441	Splice_Site	SNP	G	TCGA-CV-7091-01A-11D-2012-08	13159193	90926441	55437581	63	49118											
RNF19A	25897	broad.mit.edu	37	chr8	101299760	101299760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggacaccacctacaatCaggatctgcaacaagccacc	14	5	7	15	0	2	0	1	0	1	0	2	2	2	2	4	2	5	2	4	2	4	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:101299760C>T	ENST00000519449.1	-	3	959	c.643G>A	c.(643-645)Gat>Aat	p.D215N	RNF19A_ENST00000341084.2_Missense_Mutation_p.D215N	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	215					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CACCTACAATCAGGATCTGCA	0.358													28	59					0	0	0	0	T	101299760	C	T	101299760	3	4	274	1	0	0	0	0	1	0	0	0	13555	826	29	2	1909	2	RNF19A	8	101299760	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	10373319	101299760	45064262	64	49119											
LRP12	29967	broad.mit.edu	37	chr8	105503080	105503081	+	Frame_Shift_Ins	INS	-	-	TGAG																															ctaagcccttgtccttgatcINStgaggcaagatcaagaagag																										TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:105503080_105503081insTGAG	ENST00000276654.5	-	7	2508_2509	c.2400_2401insCTCA	c.(2398-2403)tcatcafs	p.-801fs	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Frame_Shift_Ins_p.-782fs	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12						endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGTCCTTGATCTGAGGCAAGAT	0.441													26	80	---	---	---	---					TGAG	105503081	-	TGAG	105503080	7	5	274	1	0	1	1	0	0	0	0	0	9018	913	32	0	182	0	LRP12	8	105503080	Frame_Shift_Ins	INS	-	TCGA-CV-7091-01A-11D-2012-08	4203320	105503080	40860942	65	49120											
CSMD3	114788	broad.mit.edu	37	chr8	113259327	113259328	+	Frame_Shift_Ins	INS	-	-	T																															gacccttggagaaggtgtccINSttttttgcaatggaactgta																								rs142018478		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:113259327_113259328insT	ENST00000297405.5	-	64	10387_10388	c.10143_10144insA	c.(10141-10146)aagacafs	p.T3382fs	CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.T3312fs|CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.T3342fs|CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.T3213fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3382	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAAGGTGTCCTTTTTTGCAAT	0.406										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	49	---	---	---	---					T	113259328	-	T	113259327	7	5	274	1	0	1	1	0	0	0	0	0	3978	690	24	0	1011	0	CSMD3	8	113259327	Frame_Shift_Ins	INS	-	TCGA-CV-7091-01A-11D-2012-08	7756247	113259327	33104695	66	49121											
CSMD3	114788	broad.mit.edu	37	chr8	113267646	113267646	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtataccagggtcaccAcaaaactttgctggaaatga	14	8	10	9	0	1	1	1	1	0	0	1	2	1	2	2	3	3	3	2	3	5	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:113267646A>T	ENST00000297405.5	-	62	10117	c.9873T>A	c.(9871-9873)tgT>tgA	p.C3291*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.C3221*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.C3251*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.C3122*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3291	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGGTCACCACAAAACTTTG	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	52					0	0	0	0	T	113267646	A	T	113267646	4	4	274	1	0	0	0	0	0	1	0	0	3978	157	6	5	1290	5	CSMD3	8	113267646	Nonsense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	8319	113267646	33096376	67	49122											
TRPS1	7227	broad.mit.edu	37	chr8	116631670	116631670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggtctgggttgtcattcaCcagtaagtcagttttggatt	7	15	12	7	1	4	0	3	0	1	0	4	1	4	1	1	3	0	3	1	3	1	6			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:116631670C>T	ENST00000395715.3	-	3	1232	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	TRPS1_ENST00000220888.5_Missense_Mutation_p.V206M|TRPS1_ENST00000520276.1_Missense_Mutation_p.V210M|TRPS1_ENST00000519674.1_Missense_Mutation_p.V206M|TRPS1_ENST00000519076.1_Missense_Mutation_p.V160M	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	206					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTGTCATTCACCAGTAAGTCA	0.468									Langer-Giedion syndrome				29	121					0	0	0	0	T	116631670	C	T	116631670	3	4	274	1	0	0	0	0	1	0	0	0	16688	507	18	4	3249	4	TRPS1	8	116631670	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	3364024	116631670	29732352	68	49123											
COL22A1	169044	broad.mit.edu	37	chr8	139642988	139642988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctcctgcaattccatctgCcccctaaaaaagacaaggca	14	7	6	14	0	1	1	0	0	1	1	3	1	3	1	4	1	3	3	4	1	5	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:139642988C>A	ENST00000303045.6	-	50	4059	c.3613G>T	c.(3613-3615)Gca>Tca	p.A1205S	COL22A1_ENST00000435777.1_Missense_Mutation_p.A1185S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1205	Collagen-like 11.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ATTCCATCTGCCCCCTAAAAA	0.443										HNSCC(7;0.00092)			35	109					4.90274e-10	1.20103e-09	1	0	A	139642988	C	A	139642988	3	1	274	1	0	0	0	0	1	0	0	0	3711	739	26	4	1331	4	COL22A1	8	139642988	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	23011318	139642988	6721034	69	49124											
PIP5K1B	8395	broad.mit.edu	37	chr9	71555671	71555671	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttatacgtcaatgagcaCtatccacacgacaggcctac	12	9	6	14	2	1	1	1	1	0	0	3	2	3	1	3	1	3	1	3	1	5	4			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr9:71555671C>G	ENST00000265382.3	+	14	1772	c.1467C>G	c.(1465-1467)caC>caG	p.H489Q	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.H489Q	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	489						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TCAATGAGCACTATCCACACG	0.478													33	56					0	0	0	0	G	71555671	C	G	71555671	3	3	274	1	0	0	0	0	1	0	0	0	12012	564	20	4	1509	4	PIP5K1B	9	71555671	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08		71555671	69657760	70	49125											
TEX10	54881	broad.mit.edu	37	chr9	103090242	103090242	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggataacactttactacgaTatcttagaaaggccaaagaa	17	9	8	7	1	1	2	0	0	1	2	1	4	1	3	1	2	3	0	1	2	8	6			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr9:103090242T>C	ENST00000374902.4	-	8	1804	c.1628A>G	c.(1627-1629)tAt>tGt	p.Y543C	TEX10_ENST00000535814.1_Missense_Mutation_p.Y546C	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	543						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTTACTACGATATCTTAGAAA	0.338													4	9					0	0	0	0	C	103090242	T	C	103090242	3	2	274	1	0	0	0	0	1	0	0	0	15866	1406	49	5	1193	5	TEX10	9	103090242	Missense_Mutation	SNP	T	TCGA-CV-7091-01A-11D-2012-08	31534571	103090242	38123189	71	49126											
LHX6	26468	broad.mit.edu	37	chr9	124989225	124989225	+	Frame_Shift_Del	DEL	C	C	-																															ggcagagggcggtgagcagaCagatggcgtgctgggcgtac																										TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr9:124989225delC	ENST00000394319.4	-	3	345	c.241delG	c.(241-243)tcfs	p.V81fs	LHX6_ENST00000541397.2_Frame_Shift_Del_p.V70fs|LHX6_ENST00000373754.2_Frame_Shift_Del_p.V52fs|LHX6_ENST00000373755.2_Frame_Shift_Del_p.V52fs|LHX6_ENST00000340587.3_Frame_Shift_Del_p.V81fs	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	52	LIM zinc-binding 1.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						GGTGAGCAGACAGATGGCGTG	0.662													2	4	---	---	---	---					-	124989225	C	-	124989225	7	5	274	1	0	1	0	1	0	0	0	0	8829	478	17	0	1028	0	LHX6	9	124989225	Frame_Shift_Del	DEL	C	TCGA-CV-7091-01A-11D-2012-08	21898983	124989225	16224206	72	49127											
SVIL	6840	broad.mit.edu	37	chr10	29824982	29824982	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctggagaaaccactcatGtttgggtttccctgtactat	8	16	8	9	0	2	1	1	0	1	1	3	2	3	1	2	2	2	3	2	2	3	5			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr10:29824982G>C	ENST00000375398.2	-	9	1293	c.844C>G	c.(844-846)Cat>Gat	p.H282D	SVIL_ENST00000355867.4_Missense_Mutation_p.H282D|SVIL_ENST00000375400.3_Intron			O95425	SVIL_HUMAN	supervillin	282					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AACCACTCATGTTTGGGTTTC	0.433											OREG0020098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	49					0	0	0	0	C	29824982	G	C	29824982	3	2	274	1	0	0	0	0	1	0	0	0	15511	1377	48	4	5928	4	SVIL	10	29824982	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08		29824982	105709765	73	49128											
BLNK	29760	broad.mit.edu	37	chr10	97976475	97976475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcatcattatcttccacggGgaccacataatcagcctaac	12	11	5	13	1	4	0	3	0	1	0	5	1	5	1	3	2	2	0	3	2	3	5			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr10:97976475G>T	ENST00000224337.5	-	7	682	c.541C>A	c.(541-543)Ccc>Acc	p.P181T	BLNK_ENST00000371176.2_Missense_Mutation_p.P181T|BLNK_ENST00000427367.2_Missense_Mutation_p.P181T|BLNK_ENST00000413476.2_Missense_Mutation_p.P181T	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	181	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCTTCCACGGGGACCACATAA	0.378													8	27					0.000157383	0.000364004	1	0	T	97976475	G	T	97976475	3	4	274	1	0	0	0	0	1	0	0	0	1452	1232	43	4	873	4	BLNK	10	97976475	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	68151493	97976475	37558272	74	49129											
SEMA4G	57715	broad.mit.edu	37	chr10	102740948	102740948	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactgatacaggacatagAgagaggaaatcgaggctgtg	15	6	14	6	1	0	3	0	1	0	2	1	7	0	5	0	3	2	2	0	3	3	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr10:102740948A>G	ENST00000210633.3	+	13	1745	c.1667A>G	c.(1666-1668)gAg>gGg	p.E556G	RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E551G|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Missense_Mutation_p.E556G			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	551	PSI.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CAGGACATAGAGAGAGGAAAT	0.483													7	56					0	0	0	0	G	102740948	A	G	102740948	3	3	274	1	0	0	0	0	1	0	0	0	14123	304	11	5	1717	5	SEMA4G	10	102740948	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	4764473	102740948	32793799	75	49130											
KCNQ1	3784	broad.mit.edu	37	chr11	2594162	2594162	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgagaaggacgcggtgaaCgagtcaggccgcgtggagtt	9	6	18	8	5	1	2	1	2	0	1	1	6	1	4	1	4	1	2	1	4	2	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:2594162C>T	ENST00000155840.5	+	6	975	c.867C>T	c.(865-867)aaC>aaT	p.N289N	KCNQ1_ENST00000335475.5_Silent_p.N162N	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	289					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	ACGCGGTGAACGAGTCAGGCC	0.597													15	19					0	0	0	0	T	2594162	C	T	2594162	2	4	274	1	0	0	0	0	0	0	0	1	8135	535	19	1		1	KCNQ1	11	2594162	Silent	SNP	C	TCGA-CV-7091-01A-11D-2012-08		2594162	132412354	76	49131											
OR5M9	390162	broad.mit.edu	37	chr11	56230205	56230205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcggcagagcgcatgcGtagcacagctactacaatga	12	6	11	12	3	0	2	0	1	0	1	1	2	0	2	1	1	6	5	1	1	4	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:56230205G>A	ENST00000279791.1	-	1	672	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R225C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GAGCGCATGCGTAGCACAGCT	0.478													7	10					0	0	0	0	A	56230205	G	A	56230205	3	1	274	1	0	0	0	0	1	0	0	0	11248	1145	40	1	261	1	OR5M9	11	56230205	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	53636043	56230205	78776311	77	49132											
MUS81	80198	broad.mit.edu	37	chr11	65631092	65631092	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcacaggccggagctGctccgagagctacagcggct	7	4	17	13	4	0	1	0	0	0	1	1	3	1	2	2	5	5	5	2	5	1	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:65631092G>C	ENST00000308110.4	+	9	1210	c.861G>C	c.(859-861)ctG>ctC	p.L287L	MUS81_ENST00000533035.1_Silent_p.L212L	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	287	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGCCGGAGCTGCTCCGAGAGC	0.632								Homologous recombination					3	28					0	0	0	0	C	65631092	G	C	65631092	2	2	274	1	0	0	0	0	0	0	0	1	10058	1306	46	4		4	MUS81	11	65631092	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08	9400887	65631092	69375424	78	49133											
DPP3	10072	broad.mit.edu	37	chr11	66262860	66262860	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agagctggtatcggagcgggGagacctgggatagcaagttc	10	7	17	7	2	0	2	0	0	0	2	2	5	0	4	1	5	3	4	1	5	3	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:66262860G>C	ENST00000532677.1	+	14	1935	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q	DPP3_ENST00000541961.1_Missense_Mutation_p.E493Q|DPP3_ENST00000453114.1_Missense_Mutation_p.E493Q|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000360510.2_Missense_Mutation_p.E493Q|DPP3_ENST00000531863.1_Missense_Mutation_p.E513Q|DPP3_ENST00000530165.1_Missense_Mutation_p.E463Q	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	493					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCGGAGCGGGGAGACCTGGGA	0.622													4	27					0	0	0	0	C	66262860	G	C	66262860	3	2	274	1	0	0	0	0	1	0	0	0	4764	1175	41	2	1527	2	DPP3	11	66262860	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	631768	66262860	68743656	79	49134											
ACTN3	89	broad.mit.edu	37	chr11	66326764	66326764	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgctacaggaggtgcGggcgttgctgcggcgccacg	4	8	18	11	5	0	0	0	0	0	0	0	1	0	1	1	5	5	4	1	5	1	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:66326764G>T	ENST00000504911.1	-	0	220				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							CAGGAGGTGCGGGCGTTGCTG	0.667													9	44					1.76689e-08	4.30291e-08	1	0	T	66326764	G	T	66326764	1	4	274	0	1	0	0	0	0	0	0	0	206	1116	39	3		3	ACTN3	11	66326764	RNA	SNP	G	TCGA-CV-7091-01A-11D-2012-08	63904	66326764	68679752	80	49135											
PC	5091	broad.mit.edu	37	chr11	66617734	66617734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttggcctccacataggccTtcttgacctccttgaacttg	6	13	9	13	0	1	2	0	2	1	0	3	2	3	2	5	3	1	1	5	3	2	6			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:66617734T>C	ENST00000393960.1	-	19	2956	c.2675A>G	c.(2674-2676)aAg>aGg	p.K892R	PC_ENST00000393955.2_Missense_Mutation_p.K892R|PC_ENST00000529047.1_Missense_Mutation_p.K12R|PC_ENST00000393958.2_Missense_Mutation_p.K892R	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	892					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CACATAGGCCTTCTTGACCTC	0.602													11	41					0	0	0	0	C	66617734	T	C	66617734	3	2	274	1	0	0	0	0	1	0	0	0	11568	1609	56	5	881	5	PC	11	66617734	Missense_Mutation	SNP	T	TCGA-CV-7091-01A-11D-2012-08	290970	66617734	68388782	81	49136											
CHKA	1119	broad.mit.edu	37	chr11	67821473	67821473	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcacaccccaagcttcctCttctggtggaaataggcatc	10	10	8	13	0	3	0	1	0	2	0	5	1	4	1	3	3	1	2	3	3	3	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:67821473C>T	ENST00000265689.4	-	12	1382	c.1356G>A	c.(1354-1356)aaG>aaA	p.K452K	CHKA_ENST00000533728.1_5'UTR|CHKA_ENST00000356135.5_Silent_p.K434K	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	452					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	CAAGCTTCCTCTTCTGGTGGA	0.577													5	16					0	0	0	0	T	67821473	C	T	67821473	2	4	274	1	0	0	0	0	0	0	0	1	3376	912	32	2		2	CHKA	11	67821473	Silent	SNP	C	TCGA-CV-7091-01A-11D-2012-08	1203739	67821473	67185043	82	49137											
VPS11	55823	broad.mit.edu	37	chr11	118938701	118938701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgtctgcgactcaggccGagggagcctggtctttggag	6	9	15	11	2	3	0	1	0	2	0	3	4	3	2	2	4	2	0	2	4	0	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:118938701G>A	ENST00000300793.6	+	1	209	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	56					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GACTCAGGCCGAGGGAGCCTG	0.577													4	10					0	0	0	0	A	118938701	G	A	118938701	3	1	274	1	0	0	0	0	1	0	0	0	17284	1058	37	1	169	1	VPS11	11	118938701	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	51117228	118938701	16067815	83	49138											
ERC1	23085	broad.mit.edu	37	chr12	1289706	1289706	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatttatgtacatttagAttgaaaatcttcaagagcag	17	14	6	4	0	2	3	1	1	1	2	2	3	2	3	0	0	2	2	0	0	8	8			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:1289706A>C	ENST00000397203.2	+	9	2144	c.1737_splice	c.e9-1	p.I580_splice	ERC1_ENST00000355446.5_Splice_Site_p.I580_splice|ERC1_ENST00000543086.3_Splice_Site_p.I552_splice|ERC1_ENST00000546231.2_Splice_Site_p.I580_splice|ERC1_ENST00000360905.4_Splice_Site_p.I580_splice|ERC1_ENST00000589028.1_Splice_Site_p.I580_splice|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	580					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GTACATTTAGATTGAAAATCT	0.368													17	32					0	0	0	0	C	1289706	A	C	1289706	5	2	274	1	0	0	0	0	0	0	1	0	5248	347	12	5	1768	5	ERC1	12	1289706	Splice_Site	SNP	A	TCGA-CV-7091-01A-11D-2012-08		1289706	132562189	84	49139											
GDF3	9573	broad.mit.edu	37	chr12	7843292	7843292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaattttctttgggtaaaGaaagaaacctagatgggaaa	17	10	11	3	0	1	3	0	0	1	3	1	5	1	5	1	3	1	1	1	3	7	5			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:7843292G>T	ENST00000329913.3	-	2	324	c.277C>A	c.(277-279)Ctt>Att	p.L93I		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	93					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTTGGGTAAAGAAAGAAACCT	0.403													28	56					4.87955e-14	1.21695e-13	1	0	T	7843292	G	T	7843292	3	4	274	1	0	0	0	0	1	0	0	0	6366	942	33	2	821	2	GDF3	12	7843292	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	6553586	7843292	126008603	85	49140											
SLCO1C1	53919	broad.mit.edu	37	chr12	20876088	20876088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctatatttatgtacaagCactgttcagttcaattctct	10	18	4	9	0	3	0	2	0	1	0	5	0	4	0	1	0	2	4	1	0	6	9			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:20876088C>A	ENST00000381552.1	+	9	1454	c.1086C>A	c.(1084-1086)agC>agA	p.S362R	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S362R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S362R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S313R|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S244R			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	362					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TATGTACAAGCACTGTTCAGT	0.378													28	71					4.87955e-14	1.21695e-13	1	0	A	20876088	C	A	20876088	3	1	274	1	0	0	0	0	1	0	0	0	14813	709	25	4	1116	4	SLCO1C1	12	20876088	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	13032796	20876088	112975807	86	49141											
SLC38A1	81539	broad.mit.edu	37	chr12	46592498	46592498	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtcatctttactctgataTttgtgaaggaggtcggactg	9	15	11	6	1	3	2	1	2	2	0	4	4	3	4	0	3	1	0	0	3	3	4			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:46592498T>C	ENST00000398637.5	-	14	1726	c.1032A>G	c.(1030-1032)aaA>aaG	p.K344K	SLC38A1_ENST00000549049.1_Silent_p.K344K|SLC38A1_ENST00000552197.1_Silent_p.K344K|SLC38A1_ENST00000546893.1_Silent_p.K344K|SLC38A1_ENST00000439706.1_Silent_p.K344K	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	344					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TACTCTGATATTTGTGAAGGA	0.428													16	42					0	0	0	0	C	46592498	T	C	46592498	2	2	274	1	0	0	0	0	0	0	0	1	14689	1490	52	5		5	SLC38A1	12	46592498	Silent	SNP	T	TCGA-CV-7091-01A-11D-2012-08	25716410	46592498	87259397	87	49142											
SCN8A	6334	broad.mit.edu	37	chr12	52200796	52200796	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggtgagcggggatcgcatCcactgcttggacatcctttt	7	12	12	10	2	0	1	0	1	0	0	3	3	2	3	2	4	2	2	2	4	0	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:52200796C>A	ENST00000354534.5	+	27	5704	c.5526C>A	c.(5524-5526)atC>atA	p.I1842I	SCN8A_ENST00000545061.1_Silent_p.I1801I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1842					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGGATCGCATCCACTGCTTGG	0.567													43	110					7.63091e-17	1.95012e-16	1	0	A	52200796	C	A	52200796	2	1	274	1	0	0	0	0	0	0	0	1	14011	845	30	2		2	SCN8A	12	52200796	Silent	SNP	C	TCGA-CV-7091-01A-11D-2012-08	5608298	52200796	81651099	88	49143											
CALCOCO1	57658	broad.mit.edu	37	chr12	54106918	54106918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaaggcactgcccagttcagGaagcagtaagttggcctcct	10	8	12	11	0	1	0	1	0	0	0	2	2	2	1	3	3	2	5	3	3	3	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:54106918G>C	ENST00000548263.1	-	14	1912	c.1864C>G	c.(1864-1866)Cct>Gct	p.P622A	CALCOCO1_ENST00000550804.1_Missense_Mutation_p.P622A|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.P537A|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.P621A			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	622	C-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCCAGTTCAGGAAGCAGTAAG	0.577													31	69					0	0	0	0	C	54106918	G	C	54106918	3	2	274	1	0	0	0	0	1	0	0	0	2602	1174	41	2	219	2	CALCOCO1	12	54106918	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	1906122	54106918	79744977	89	49144											
OR6C70	390327	broad.mit.edu	37	chr12	55863389	55863389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgtaggataagagaaatGtcacaaatgaaatgatcaat	19	10	9	3	0	2	3	2	2	0	1	2	5	2	4	0	1	0	2	0	1	6	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:55863389G>A	ENST00000327335.4	-	1	533	c.534C>T	c.(532-534)gaC>gaT	p.D178D	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TAAGAGAAATGTCACAAATGA	0.348													32	94					0	0	0	0	A	55863389	G	A	55863389	2	1	274	1	0	0	0	0	0	0	0	1	11268	1368	48	4		4	OR6C70	12	55863389	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08	1756471	55863389	77988506	90	49145											
LRP1	4035	broad.mit.edu	37	chr12	57592066	57592066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaatggggcctatcggaCggtgctggtcagctctggcc	5	9	15	12	2	3	0	2	0	1	0	4	1	3	1	2	6	2	3	2	6	2	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:57592066C>T	ENST00000243077.3	+	59	9876	c.9410C>T	c.(9409-9411)aCg>aTg	p.T3137M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3137					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCTATCGGACGGTGCTGGTC	0.637													11	32					0	0	0	0	T	57592066	C	T	57592066	3	4	274	1	0	0	0	0	1	0	0	0	9015	536	19	1	9644	1	LRP1	12	57592066	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	1728677	57592066	76259829	91	49146											
CPSF6	11052	broad.mit.edu	37	chr12	69656338	69656338	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgcgaatatcgtcatcgttAgaaggtgggtattccttgtt	8	14	12	7	4	1	1	1	0	0	1	4	2	2	1	1	2	0	3	1	2	5	6			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:69656338A>G	ENST00000435070.2	+	9	1765	c.1655A>G	c.(1654-1656)tAg>tGg	p.*552W	CPSF6_ENST00000456847.3_Nonstop_Mutation_p.*479W|CPSF6_ENST00000266679.8_Nonstop_Mutation_p.*589W|CPSF6_ENST00000551516.1_Missense_Mutation_p.R55G	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	0					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CGTCATCGTTAGAAGGTGGGT	0.443													6	33					0	0	0	0	G	69656338	A	G	69656338	4	3	274	1	0	0	0	0	0	0	0	0	3859	433	15	5	1689	5	CPSF6	12	69656338	Nonstop_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	12064272	69656338	64195557	92	49147											
VEZT	55591	broad.mit.edu	37	chr12	95694417	95694417	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaggaagaacaaataataGaagaaaataaaaatgagata	26	5	9	1	0	0	4	0	1	0	4	0	7	0	6	0	2	1	0	0	2	12	4			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:95694417G>C	ENST00000436874.1	+	12	2413	c.2308G>C	c.(2308-2310)Gaa>Caa	p.E770Q	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.E722Q	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	770						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ACAAATAATAGAAGAAAATAA	0.383													3	32					0	0	0	0	C	95694417	G	C	95694417	3	2	274	1	0	0	0	0	1	0	0	0	17252	943	33	2	2354	2	VEZT	12	95694417	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	26038079	95694417	38157478	93	49148											
NAA25	80018	broad.mit.edu	37	chr12	112518864	112518864	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctgaatgccatactcacTtgcataattaagctcatcac	13	13	4	11	0	4	1	3	1	1	0	4	1	4	1	1	0	4	2	1	0	4	5			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:112518864T>G	ENST00000261745.4	-	5	725	c.477_splice	c.e5+1	p.Q159_splice		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	159						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCATACTCACTTGCATAATTA	0.343													35	157					0	0	0	0	G	112518864	T	G	112518864	5	3	274	1	0	0	0	0	0	0	1	0	10191	1623	56	5	2521	5	NAA25	12	112518864	Splice_Site	SNP	T	TCGA-CV-7091-01A-11D-2012-08	16824447	112518864	21333031	94	49149											
UBC	7316	broad.mit.edu	37	chr12	125397805	125397805	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattctcgatggtgtcactGggctccacctcgagggtgat	7	11	12	11	2	2	1	1	1	1	0	5	3	3	1	2	3	0	1	2	3	0	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:125397805G>C	ENST00000536769.1	-	1	2089	c.513C>G	c.(511-513)ccC>ccG	p.P171P	UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.P171P			P0CG48	UBC_HUMAN	ubiquitin C	171	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGGTGTCACTGGGCTCCACCT	0.517													4	84					0	0	0	0	C	125397805	G	C	125397805	2	2	274	1	0	0	0	0	0	0	0	1	16938	1335	47	4		4	UBC	12	125397805	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08	12878941	125397805	8454090	95	49150											
LCP1	3936	broad.mit.edu	37	chr13	46716545	46716545	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttccccaattctaccgcgtAgttacaattctcaagctgaa	11	12	5	13	2	2	1	1	1	2	0	4	1	3	1	3	0	3	3	3	0	7	6			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr13:46716545A>C	ENST00000398576.2	-	16	1772	c.1384T>G	c.(1384-1386)Tac>Gac	p.Y462D	LCP1_ENST00000435666.2_Missense_Mutation_p.Y31D|LCP1_ENST00000323076.2_Missense_Mutation_p.Y462D			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	462	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCTACCGCGTAGTTACAATTC	0.383			T	BCL6	NHL								10	28					0	0	0	0	C	46716545	A	C	46716545	3	2	274	1	0	0	0	0	1	0	0	0	8744	420	15	5	515	5	LCP1	13	46716545	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08		46716545	68453333	96	49151											
KLHL1	57626	broad.mit.edu	37	chr13	70535472	70535472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggacaaggtcccagagaGcattggggtctatgccttcc	9	10	12	10	0	1	1	0	0	1	1	3	3	3	2	3	4	2	1	3	4	2	4	rs139916031		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr13:70535472G>A	ENST00000377844.4	-	3	1544	c.785C>T	c.(784-786)gCt>gTt	p.A262V	KLHL1_ENST00000545028.1_Missense_Mutation_p.A69V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	262	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTCCCAGAGAGCATTGGGGTC	0.388													18	33					0	0	0	0	A	70535472	G	A	70535472	3	1	274	1	0	0	0	0	1	0	0	0	8417	971	34	4	1497	4	KLHL1	13	70535472	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	23818927	70535472	44634406	97	49152											
MYCBP2	23077	broad.mit.edu	37	chr13	77742684	77742684	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttcctgtggtgctatctgtcGactgattagggttgaaggca	7	14	13	7	1	1	2	0	2	1	0	3	3	2	2	1	3	1	3	1	3	3	4			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr13:77742684G>C	ENST00000407578.2	-	40	6259	c.5993C>G	c.(5992-5994)tCg>tGg	p.S1998W	MYCBP2_ENST00000544440.2_Missense_Mutation_p.S1960W|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1960W	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1960					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTATCTGTCGACTGATTAGG	0.493													18	72					0	0	0	0	C	77742684	G	C	77742684	3	2	274	1	0	0	0	0	1	0	0	0	10088	1059	37	3	8219	3	MYCBP2	13	77742684	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	7207212	77742684	37427194	98	49153											
CTAGE5	4253	broad.mit.edu	37	chr14	39769088	39769088	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttgcaagaagctgaagtAtggaaagaacaagtgagtga	16	9	12	4	0	0	5	0	3	0	2	0	6	0	6	0	1	3	3	0	1	7	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:39769088A>T	ENST00000553728.1	+	13	2511	c.2298A>T	c.(2296-2298)gtA>gtT	p.V766V	CTAGE5_ENST00000341502.5_Silent_p.V231V|CTAGE5_ENST00000556148.1_Silent_p.V156V|CTAGE5_ENST00000396165.4_Silent_p.V202V|CTAGE5_ENST00000396158.2_Silent_p.V236V|CTAGE5_ENST00000553352.1_Silent_p.V202V|RP11-407N17.3_ENST00000603904.1_Silent_p.V202V|CTAGE5_ENST00000280083.3_Silent_p.V231V|CTAGE5_ENST00000557038.1_Silent_p.V151V|CTAGE5_ENST00000341749.3_Silent_p.V219V|CTAGE5_ENST00000348007.3_Silent_p.V231V																							AAGCTGAAGTATGGAAAGAAC	0.318													8	75					0	0	0	0	T	39769088	A	T	39769088	2	4	274	1	0	0	0	0	0	0	0	1	4026	436	16	5		5	CTAGE5	14	39769088	Silent	SNP	A	TCGA-CV-7091-01A-11D-2012-08		39769088	67580452	99	49154											
PRKCH	5583	broad.mit.edu	37	chr14	61997130	61997130	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccctttgcacagatcctCcaggaaatgctgtacgggcc	8	8	10	15	1	0	1	0	0	0	1	2	2	2	2	5	2	3	3	5	2	2	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:61997130C>A	ENST00000556347.1	+	2	92	c.92C>A	c.(91-93)tCc>tAc	p.S31Y	PRKCH_ENST00000332981.5_Silent_p.L526L|PRKCH_ENST00000555082.1_Silent_p.L365L																							CACAGATCCTCCAGGAAATGC	0.483													30	138					3.99451e-17	1.02716e-16	1	0	A	61997130	C	A	61997130	3	1	274	1	0	0	0	0	1	0	0	0	12593	842	30	2	1624	2	PRKCH	14	61997130	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	22228042	61997130	45352410	100	49155											
SYT16	83851	broad.mit.edu	37	chr14	62541956	62541957	+	Frame_Shift_Ins	INS	-	-	A																															catgtgaaagaggggatgccINSaaacaccacggcacatctca																										TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:62541956_62541957insA	ENST00000430451.2	+	3	1037_1038	c.840_841insA	c.(838-843)gcaacafs	p.T281fs	SYT16_ENST00000446982.2_Frame_Shift_Ins_p.T281fs|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	281										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGGGGATGCCAAACACCACGG	0.545													12	26	---	---	---	---					A	62541957	-	A	62541956	7	5	274	1	0	1	1	0	0	0	0	0	15563	581	21	0	850	0	SYT16	14	62541956	Frame_Shift_Ins	INS	-	TCGA-CV-7091-01A-11D-2012-08	544826	62541956	44807584	101	49156											
RGS6	9628	broad.mit.edu	37	chr14	72925015	72925015	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagccttatcgctgcccAgggctacatctttccaatct	7	11	10	13	1	2	0	0	0	2	0	4	1	3	1	3	3	3	2	3	3	3	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:72925015A>C	ENST00000553530.1	+	5	479	c.272A>C	c.(271-273)cAg>cCg	p.Q91P	RGS6_ENST00000555571.1_Missense_Mutation_p.Q91P|RGS6_ENST00000553525.1_Missense_Mutation_p.Q91P|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000556437.1_Missense_Mutation_p.Q91P|RGS6_ENST00000402788.2_Missense_Mutation_p.Q91P|RGS6_ENST00000407322.4_Missense_Mutation_p.Q91P|RGS6_ENST00000406236.4_Missense_Mutation_p.Q91P|RGS6_ENST00000404301.2_Missense_Mutation_p.Q91P|RGS6_ENST00000355512.6_Missense_Mutation_p.Q91P|RGS6_ENST00000343854.6_Missense_Mutation_p.Q91P|RGS6_ENST00000434263.2_Missense_Mutation_p.Q22P	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	91	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATCGCTGCCCAGGGCTACATC	0.458													26	53					0	0	0	0	C	72925015	A	C	72925015	3	2	274	1	0	0	0	0	1	0	0	0	13392	188	7	5	286	5	RGS6	14	72925015	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	10383059	72925015	34424525	102	49157											
TECPR2	9895	broad.mit.edu	37	chr14	102931608	102931608	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcttccagcctggataatGattgagccacctgtccaggt	9	11	10	11	0	0	2	0	2	0	0	2	3	2	3	5	2	3	1	5	2	1	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:102931608G>C	ENST00000359520.7	+	17	3997	c.3771G>C	c.(3769-3771)atG>atC	p.M1257I	TECPR2_ENST00000558678.1_Missense_Mutation_p.M1257I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1257							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCTGGATAATGATTGAGCCAC	0.502													13	45					0	0	0	0	C	102931608	G	C	102931608	3	2	274	1	0	0	0	0	1	0	0	0	15838	1290	45	2	3833	2	TECPR2	14	102931608	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	30006593	102931608	4417932	103	49158											
RYR3	6263	broad.mit.edu	37	chr15	33955093	33955093	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggggagaaggccggcaagGaggctcctgtcaaaggcttg	9	6	17	9	1	1	1	1	0	0	1	2	3	2	2	2	7	0	3	2	7	3	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr15:33955093G>T	ENST00000389232.4	+	35	5432	c.5362G>T	c.(5362-5364)Gag>Tag	p.E1788*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.E1788*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1788	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCCGGCAAGGAGGCTCCTGT	0.562													29	179					1.30897e-18	3.40827e-18	1	0	T	33955093	G	T	33955093	4	4	274	1	0	0	0	0	0	1	0	0	13855	1175	41	2	5500	2	RYR3	15	33955093	Nonsense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08		33955093	68576299	104	49159											
HERC1	8925	broad.mit.edu	37	chr15	63904544	63904544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacctcatgaaaagcaccCgctcctcattggagaactct	13	8	6	14	1	3	2	2	1	1	1	4	3	4	2	3	1	3	2	3	1	4	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr15:63904544C>T	ENST00000443617.2	-	77	14393	c.14306G>A	c.(14305-14307)cGg>cAg	p.R4769Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4769	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAAAAGCACCCGCTCCTCATT	0.493													6	44					0	0	0	0	T	63904544	C	T	63904544	3	4	274	1	0	0	0	0	1	0	0	0	7107	652	23	1	287	1	HERC1	15	63904544	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	29949451	63904544	38626848	105	49160											
ISL2	64843	broad.mit.edu	37	chr15	76629267	76629267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atccttttctgggtgctatgGgtgatcattccaagagtaag	9	14	11	7	0	2	2	1	1	1	1	4	2	4	2	2	2	1	2	2	2	3	5			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr15:76629267G>A	ENST00000290759.4	+	1	203	c.43G>A	c.(43-45)Ggt>Agt	p.G15S		NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	15						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GGGTGCTATGGGTGATCATTC	0.443													52	330					0	0	0	0	A	76629267	G	A	76629267	3	1	274	1	0	0	0	0	1	0	0	0	7910	1232	43	4	45	4	ISL2	15	76629267	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	12724723	76629267	25902125	106	49161											
PRSS27	83886	broad.mit.edu	37	chr16	2762622	2762622	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcctggccccgggggtctCacttctggccgcccaacctc	3	8	11	19	2	2	0	1	0	2	0	5	0	3	0	6	4	1	1	6	4	1	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr16:2762622C>G	ENST00000302641.3	-	6	926	c.872G>C	c.(871-873)tGa>tCa	p.*291S		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	0					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCGGGGGTCTCACTTCTGGCC	0.652													2	3					0	0	0	0	G	2762622	C	G	2762622	4	3	274	1	0	0	0	0	0	0	0	0	12700	837	29	2	4	2	PRSS27	16	2762622	Nonstop_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08		2762622	87592131	107	49162											
SRRM2	23524	broad.mit.edu	37	chr16	2817671	2817671	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attgtctggtgcaaacctcaCcagccccagggtgccccttt	7	10	9	15	0	2	0	1	0	1	0	2	0	2	0	6	2	4	1	6	2	1	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:2817671C>G	ENST00000301740.8	+	11	7691	c.7142C>G	c.(7141-7143)aCc>aGc	p.T2381S	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2381	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAAACCTCACCAGCCCCAGG	0.632													34	87					0	0	0	0	G	2817671	C	G	2817671	3	3	274	1	0	0	0	0	1	0	0	0	15259	507	18	4	7180	4	SRRM2	16	2817671	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	55049	2817671	87537082	108	49163											
XPO6	23214	broad.mit.edu	37	chr16	28167615	28167615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagttctggctgctgccgtTaactgacgccatctttctgg	6	13	10	12	2	3	1	0	1	3	0	3	1	3	1	2	2	3	4	2	2	1	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:28167615T>C	ENST00000304658.5	-	7	1377	c.877A>G	c.(877-879)Aac>Gac	p.N293D	XPO6_ENST00000565698.1_Missense_Mutation_p.N279D|XPO6_ENST00000561488.1_5'UTR	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	293					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTGCTGCCGTTAACTGACGCC	0.577													29	67					0	0	0	0	C	28167615	T	C	28167615	3	2	274	1	0	0	0	0	1	0	0	0	17544	1754	61	5	2572	5	XPO6	16	28167615	Missense_Mutation	SNP	T	TCGA-CV-7091-01A-11D-2012-08	25349944	28167615	62187138	109	49164											
SIAH1	6477	broad.mit.edu	37	chr16	48395697	48395697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattttcagcttgcttgcGtgttcctatcagctgtacga	9	15	8	9	2	2	0	2	0	0	0	3	1	3	0	1	0	5	5	1	0	4	7			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:48395697G>A	ENST00000380006.2	-	1	2096	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	SIAH1_ENST00000356721.3_Missense_Mutation_p.R246C|SIAH1_ENST00000394725.2_Missense_Mutation_p.R215C|LONP2_ENST00000564259.1_3'UTR			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	215	SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GCTTGCTTGCGTGTTCCTATC	0.443													14	66					0	0	0	0	A	48395697	G	A	48395697	3	1	274	1	0	0	0	0	1	0	0	0	14387	1145	40	1	209	1	SIAH1	16	48395697	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	20228082	48395697	41959056	110	49165											
CX3CL1	6376	broad.mit.edu	37	chr16	57416529	57416529	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggccagagaactctcTggagcgggaggagatgggtc	9	5	16	11	1	1	2	0	0	1	2	3	6	1	4	3	5	2	0	3	5	1	0			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:57416529T>A	ENST00000565912.1	+	2	3371	c.665T>A	c.(664-666)cTg>cAg	p.L222Q	CX3CL1_ENST00000006053.6_Missense_Mutation_p.L260Q|CX3CL1_ENST00000563383.1_Missense_Mutation_p.L266Q			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	260	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAGAACTCTCTGGAGCGGGAG	0.667													22	44					0	0	0	0	A	57416529	T	A	57416529	3	1	274	1	0	0	0	0	1	0	0	0	4106	1580	55	5	789	5	CX3CL1	16	57416529	Missense_Mutation	SNP	T	TCGA-CV-7091-01A-11D-2012-08	9020832	57416529	32938224	111	49166											
PDPR	55066	broad.mit.edu	37	chr16	70176575	70176575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgacatgtcctctttcacaAagtttgagataacagtaagt	13	14	7	7	0	2	2	1	2	1	1	3	3	3	2	1	0	1	2	1	0	3	5	rs2549566	by1000genomes	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:70176575A>G	ENST00000288050.4	+	13	2548	c.1591A>G	c.(1591-1593)Aag>Gag	p.K531E	PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Missense_Mutation_p.K431E|PDPR_ENST00000568530.1_Missense_Mutation_p.K531E	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	531					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTCTTTCACAAAGTTTGAGAT	0.353													4	144					0	0	0	0	G	70176575	A	G	70176575	3	3	274	1	0	0	0	0	1	0	0	0	11760	15	1	5	1633	5	PDPR	16	70176575	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	12760046	70176575	20178178	112	49167											
COG4	25839	broad.mit.edu	37	chr16	70551611	70551611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatcattccagccagctgcTttgcatctccctcaatcagc	8	12	6	15	0	4	1	3	1	1	0	6	1	5	1	3	0	5	3	3	0	1	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:70551611T>C	ENST00000323786.5	-	3	308	c.287A>G	c.(286-288)aAg>aGg	p.K96R	COG4_ENST00000564653.1_Missense_Mutation_p.K96R|COG4_ENST00000393612.4_Missense_Mutation_p.K92R	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	92	Interacts with STX5.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGCCAGCTGCTTTGCATCTCC	0.443													32	62					0	0	0	0	C	70551611	T	C	70551611	3	2	274	1	0	0	0	0	1	0	0	0	3690	1609	56	5	2150	5	COG4	16	70551611	Missense_Mutation	SNP	T	TCGA-CV-7091-01A-11D-2012-08	375036	70551611	19803142	113	49168											
HYDIN	54768	broad.mit.edu	37	chr16	71212876	71212876	+	Frame_Shift_Del	DEL	G	G	-																															ggaacttcatagacttcacaGggagtgtagttctgaaatat																										TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:71212876delG	ENST00000393567.2	-	4	486	c.336delC	c.(334-336)ccfs	p.P112fs	HYDIN_ENST00000321489.5_Frame_Shift_Del_p.P112fs|HYDIN_ENST00000448089.2_Frame_Shift_Del_p.P112fs|HYDIN_ENST00000541601.1_Frame_Shift_Del_p.P129fs|HYDIN_ENST00000288168.10_Frame_Shift_Del_p.P129fs|HYDIN_ENST00000448691.1_Frame_Shift_Del_p.P112fs|HYDIN_ENST00000538248.1_Frame_Shift_Del_p.P139fs|HYDIN_ENST00000393550.2_Frame_Shift_Del_p.P112fs	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	112										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGACTTCACAGGGAGTGTAGT	0.388													13	122	---	---	---	---					-	71212876	G	-	71212876	7	5	274	1	0	1	0	1	0	0	0	0	7520	987	35	0	15370	0	HYDIN	16	71212876	Frame_Shift_Del	DEL	G	TCGA-CV-7091-01A-11D-2012-08	661265	71212876	19141877	114	49169											
FBXO31	79791	broad.mit.edu	37	chr16	87365007	87365007	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacaggctgaaggatttcaGctccagccagacgaacccga	12	6	11	12	2	1	2	1	1	0	1	2	5	2	3	3	2	4	3	3	2	3	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:87365007G>C	ENST00000311635.7	-	9	1519	c.1507C>G	c.(1507-1509)Ctg>Gtg	p.L503V	RP11-178L8.4_ENST00000568879.1_Intron	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	503					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AAGGATTTCAGCTCCAGCCAG	0.622													13	24					0	0	0	0	C	87365007	G	C	87365007	3	2	274	1	0	0	0	0	1	0	0	0	5786	962	34	4	116	4	FBXO31	16	87365007	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	16152131	87365007	2989746	115	49170											
ATP1B2	482	broad.mit.edu	37	chr17	7557506	7557506	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagctgggcaactgctcCggcattggggactccaccca	8	6	11	16	1	0	0	0	0	0	0	2	1	2	1	4	4	3	4	4	4	1	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr17:7557506C>T	ENST00000250111.4	+	4	890	c.483C>T	c.(481-483)tcC>tcT	p.S161S		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	161					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GCAACTGCTCCGGCATTGGGG	0.562													149	122					0	0	0	0	T	7557506	C	T	7557506	2	4	274	1	0	0	0	0	0	0	0	1	1137	639	23	1		1	ATP1B2	17	7557506	Silent	SNP	C	TCGA-CV-7091-01A-11D-2012-08		7557506	73637704	116	49171											
TP53	7157	broad.mit.edu	37	chr17	7579718	7579718	+	Frame_Shift_Del	DEL	A	A	-																															accagaacgttgttttcaggAagtctgaaagacaagagcag																										TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr17:7579718delA	ENST00000420246.2	-	3	210	c.78delT	c.(76-78)ctfs	p.L26fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.L26fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L26fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L26fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	26	Interaction with HRMT1L2.|Transcription activation (acidic).				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L26fs*18(1)|p.P13fs*18(1)|p.L26fs*11(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGTTTTCAGGAAGTCTGAAAG	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	28	---	---	---	---					-	7579718	A	-	7579718	7	5	274	1	0	1	0	1	0	0	0	0	16476	233	9	0	1228	0	TP53	17	7579718	Frame_Shift_Del	DEL	A	TCGA-CV-7091-01A-11D-2012-08	22212	7579718	73615492	117	49172											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16875383	16875383	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcctgctccggcccaggcCactcattactcaggatgctt	6	10	9	16	2	2	0	2	0	0	0	4	1	3	1	4	3	3	2	4	3	1	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr17:16875383C>A	ENST00000437538.2	-	1	15	c.7G>T	c.(7-9)Ggc>Tgc	p.G3C	TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.G3C|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.G3C|TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.G3C			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	3					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CGGCCCAGGCCACTCATTACT	0.582									IgA Deficiency, Selective				13	43					9.31168e-06	2.17799e-05	1	0	A	16875383	C	A	16875383	3	1	274	1	0	0	0	0	1	0	0	0	16381	594	21	4	894	4	TNFRSF13B	17	16875383	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	9295665	16875383	64319827	118	49173											
NFE2L1	4779	broad.mit.edu	37	chr17	46128746	46128746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcctcagtcaggtgagggCcctggacaggttccaggtgc	6	8	15	12	0	2	1	2	1	0	0	4	2	4	2	3	5	1	2	3	5	0	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr17:46128746C>A	ENST00000362042.3	+	2	882	c.266C>A	c.(265-267)gCc>gAc	p.A89D	NFE2L1_ENST00000585291.1_Missense_Mutation_p.A89D|NFE2L1_ENST00000361665.3_Missense_Mutation_p.A89D|NFE2L1_ENST00000357480.5_Missense_Mutation_p.A89D	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	89					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGTGAGGGCCCTGGACAGG	0.582													25	94					3.08376e-08	7.42254e-08	1	0	A	46128746	C	A	46128746	3	1	274	1	0	0	0	0	1	0	0	0	10437	739	26	4	268	4	NFE2L1	17	46128746	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	29253363	46128746	35066464	119	49174											
BAHCC1	57597	broad.mit.edu	37	chr17	79410355	79410355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgggtggcctcaaggcCagctgcatccagcaggaagc	8	5	15	13	0	1	0	1	0	0	0	2	1	2	1	4	5	4	3	4	5	2	0			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr17:79410355C>T	ENST00000307745.7	+	9	1980	c.1980C>T	c.(1978-1980)gcC>gcT	p.A660A																								GCCTCAAGGCCAGCTGCATCC	0.642													6	14					0	0	0	0	T	79410355	C	T	79410355	2	4	274	1	0	0	0	0	0	0	0	1	1300	581	21	4		4	BAHCC1	17	79410355	Silent	SNP	C	TCGA-CV-7091-01A-11D-2012-08	33281609	79410355	1784855	120	49175											
CDH7	1005	broad.mit.edu	37	chr18	63547834	63547834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agacccggagggatgtgactCcagaaattcaattcctgagt	12	9	11	9	1	1	4	1	2	0	2	3	6	3	6	3	2	0	0	3	2	2	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr18:63547834C>T	ENST00000397968.2	+	12	2488	c.2062C>T	c.(2062-2064)Cca>Tca	p.P688S	CDH7_ENST00000323011.3_Missense_Mutation_p.P688S	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	688					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGATGTGACTCCAGAAATTCA	0.478													13	42					0	0	0	0	T	63547834	C	T	63547834	3	4	274	1	0	0	0	0	1	0	0	0	3144	855	30	2	2104	2	CDH7	18	63547834	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08		63547834	14529414	121	49176											
DSEL	92126	broad.mit.edu	37	chr18	65180979	65180979	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgggccagaaaaacataCtgtgtgacggatttagctgt	11	10	12	8	2	0	2	0	1	0	1	0	3	0	3	1	2	3	2	1	2	4	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr18:65180979C>G	ENST00000310045.7	-	2	2370	c.897G>C	c.(895-897)caG>caC	p.Q299H	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	289						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAAAAACATACTGTGTGACGG	0.388													14	69					0	0	0	0	G	65180979	C	G	65180979	3	3	274	1	0	0	0	0	1	0	0	0	4811	564	20	4	2775	4	DSEL	18	65180979	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	1633145	65180979	12896269	122	49177											
FBN3	84467	broad.mit.edu	37	chr19	8131097	8131097	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggcccaggtgtgagaggttCaggcccaaggtcagcagggc	8	5	17	11	1	2	1	2	1	0	1	2	2	2	1	2	6	1	2	2	6	1	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:8131097C>T	ENST00000600128.1	-	64	8550	c.8136G>A	c.(8134-8136)ctG>ctA	p.L2712L	FBN3_ENST00000601739.1_Silent_p.L2712L|FBN3_ENST00000270509.2_Silent_p.L2712L			Q75N90	FBN3_HUMAN	fibrillin 3	2712						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTGAGAGGTTCAGGCCCAAGG	0.662													8	15					0	0	0	0	T	8131097	C	T	8131097	2	4	274	1	0	0	0	0	0	0	0	1	5749	813	29	2		2	FBN3	19	8131097	Silent	SNP	C	TCGA-CV-7091-01A-11D-2012-08		8131097	50997886	123	49178											
FBN3	84467	broad.mit.edu	37	chr19	8188397	8188397	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaagccccccgcacaggcGcagtggaagctgcccaccgt	8	3	13	17	4	0	0	0	0	0	0	0	2	0	1	5	2	3	3	5	2	2	0	rs145240162	byFrequency	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:8188397G>A	ENST00000600128.1	-	24	3447	c.3033C>T	c.(3031-3033)tgC>tgT	p.C1011C	FBN3_ENST00000601739.1_Silent_p.C1011C|FBN3_ENST00000270509.2_Silent_p.C1011C			Q75N90	FBN3_HUMAN	fibrillin 3	1011	EGF-like 12; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCGCACAGGCGCAGTGGAAGC	0.597													16	26					0	0	0	0	A	8188397	G	A	8188397	2	1	274	1	0	0	0	0	0	0	0	1	5749	1079	38	1		1	FBN3	19	8188397	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08	57300	8188397	50940586	124	49179											
OR2Z1	284383	broad.mit.edu	37	chr19	8842012	8842012	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcaggggtgctgatcctaAtgctccctctttccctcatc	5	13	7	16	0	3	1	2	1	1	0	7	1	6	1	4	2	2	2	4	2	1	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:8842012A>C	ENST00000324060.2	+	1	697	c.622A>C	c.(622-624)Atg>Ctg	p.M208L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGATCCTAATGCTCCCTCT	0.582													34	51					0	0	0	0	C	8842012	A	C	8842012	3	2	274	1	0	0	0	0	1	0	0	0	11107	101	4	5	624	5	OR2Z1	19	8842012	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	653615	8842012	50286971	125	49180											
MUC16	94025	broad.mit.edu	37	chr19	9049680	9049680	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgaccagtggggtcagtgCatctagttcactaggtgaga	10	10	14	7	0	3	2	2	2	1	1	3	3	3	2	1	3	1	2	1	3	2	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:9049680C>G	ENST00000397910.4	-	5	32154	c.31951G>C	c.(31951-31953)Gca>Cca	p.A10651P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10653	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A6284S(1)|p.A10651S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGTCAGTGCATCTAGTTCA	0.473													14	63					0	0	0	0	G	9049680	C	G	9049680	3	3	274	1	0	0	0	0	1	0	0	0	10043	710	25	4	11892	4	MUC16	19	9049680	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	207668	9049680	50079303	126	49181											
SLC44A2	57153	broad.mit.edu	37	chr19	10753954	10753954	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggacctctctccacaGtggaggacctggagaggaat	9	8	13	11	0	2	1	0	0	2	1	4	6	3	5	3	5	0	0	3	5	1	0			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:10753954G>A	ENST00000335757.5	+	22	2390		c.e22-1		SLC44A2_ENST00000407327.4_Splice_Site|SLC44A2_ENST00000586078.1_3'UTR			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2						positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCTCTCCACAGTGGAGGACCT	0.592													7	6					0	0	0	0	A	10753954	G	A	10753954	5	1	274	1	0	0	0	0	0	0	1	0	14724	1043	36	4	2135	4	SLC44A2	19	10753954	Splice_Site	SNP	G	TCGA-CV-7091-01A-11D-2012-08	1704274	10753954	48375029	127	49182											
ZNF844	284391	broad.mit.edu	37	chr19	12186456	12186456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctatgattgtaaagaatGtggaaaaaccttcatatccc	15	12	6	8	0	2	2	1	1	1	1	3	3	3	3	2	1	1	1	2	1	7	5			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:12186456G>A	ENST00000439326.3	+	4	696	c.521G>A	c.(520-522)tGt>tAt	p.C174Y	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TGTAAAGAATGTGGAAAAACC	0.383													12	20					0	0	0	0	A	12186456	G	A	12186456	3	1	274	1	0	0	0	0	1	0	0	0	18283	1377	48	4	535	4	ZNF844	19	12186456	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	1432502	12186456	46942527	128	49183											
ZNF564	163050	broad.mit.edu	37	chr19	12639154	12639154	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttttgtaccaatcttcaAtgctctggtcttcccatttt	7	19	5	10	0	4	0	1	0	3	0	5	1	5	0	2	1	2	2	2	1	3	7			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:12639154A>C	ENST00000339282.7	-	3	351	c.155T>G	c.(154-156)aTt>aGt	p.I52S	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CCAATCTTCAATGCTCTGGTC	0.299													5	32					0	0	0	0	C	12639154	A	C	12639154	3	2	274	1	0	0	0	0	1	0	0	0	18090	101	4	5	1514	5	ZNF564	19	12639154	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	452698	12639154	46489829	129	49184											
CD97	976	broad.mit.edu	37	chr19	14513676	14513676	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaccctcctgccaaggTctctgctcactctgctcact	8	10	7	16	0	4	1	2	0	2	1	6	2	5	1	3	1	3	2	3	1	2	0			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:14513676T>C	ENST00000242786.5	+	12	1529		c.e12+2		CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Splice_Site|CD97_ENST00000357355.3_Splice_Site	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule						cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCTGCCAAGGTCTCTGCTCAC	0.562													18	45					0	0	0	0	C	14513676	T	C	14513676	5	2	274	1	0	0	0	0	0	0	1	0	3078	1681	58	5	1497	5	CD97	19	14513676	Splice_Site	SNP	T	TCGA-CV-7091-01A-11D-2012-08	1874522	14513676	44615307	130	49185											
CYP4F2	8529	broad.mit.edu	37	chr19	15989681	15989681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaggcaggacgcggaagCgcagcagcgtgagcgccagg	9	2	19	11	5	1	1	1	1	0	0	1	3	1	3	1	5	4	3	1	5	1	0			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:15989681C>T	ENST00000221700.5	-	13	1558	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	CYP4F2_ENST00000592328.1_Missense_Mutation_p.R488H	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	488					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GACGCGGAAGCGCAGCAGCGT	0.677													9	68					0	0	0	0	T	15989681	C	T	15989681	3	4	274	1	0	0	0	0	1	0	0	0	4220	768	27	1	103	1	CYP4F2	19	15989681	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	1476005	15989681	43139302	131	49186											
IL12RB1	3594	broad.mit.edu	37	chr19	18191667	18191667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagagctgcagggtcacCtcaggagacttctctgtctg	7	12	12	10	0	4	2	2	0	2	2	5	3	4	2	1	2	2	3	1	2	1	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:18191667C>T	ENST00000600835.1	-	5	687	c.384G>A	c.(382-384)gaG>gaA	p.E128E	IL12RB1_ENST00000593993.1_Silent_p.E128E|IL12RB1_ENST00000430026.2_Silent_p.E128E|IL12RB1_ENST00000322153.6_Silent_p.E128E			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	128	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCAGGGTCACCTCAGGAGACT	0.582													14	76					0	0	0	0	T	18191667	C	T	18191667	2	4	274	1	0	0	0	0	0	0	0	1	7679	680	24	4		4	IL12RB1	19	18191667	Silent	SNP	C	TCGA-CV-7091-01A-11D-2012-08	2201986	18191667	40937316	132	49187											
ZNF45	7596	broad.mit.edu	37	chr19	44418581	44418581	+	Missense_Mutation	SNP	G	G	A																															aactaaagctcttgccacatGcattgcatttgtatggtttc																										TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:44418581G>A	ENST00000269973.5	-	10	2097	c.1007C>T	c.(1006-1008)gCa>gTa	p.A336V	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.A336V	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	336					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CTTGCCACATGCATTGCATTT	0.458													22	48					0	0	0	0	A	44418581	G	A	44418581	3	1	274	1	0	0	0	0	1	0	0	0	18016	1319	46	4	1045	4	ZNF45	19	44418581	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	26226914	44418581	14710402	133	49188	384	2									
ZNF45	7596	broad.mit.edu	37	chr19	44418582	44418582	+	Missense_Mutation	SNP	C	C	T																															actaaagctcttgccacatgCattgcatttgtatggtttct																										TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:44418582C>T	ENST00000269973.5	-	10	2096	c.1006G>A	c.(1006-1008)Gca>Aca	p.A336T	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.A336T	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	336					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTGCCACATGCATTGCATTTG	0.453													21	47					0	0	0	0	T	44418582	C	T	44418582	3	4	274	1	0	0	0	0	1	0	0	0	18016	710	25	4	1046	4	ZNF45	19	44418582	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	1	44418582	14710401	134	49189	384	2									
CEACAM20	125931	broad.mit.edu	37	chr19	45016078	45016078	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgcagcatcactcaccagTtcgactctgatccgtccctg	7	11	7	16	2	4	1	2	1	2	0	7	2	6	1	3	0	2	3	3	0	0	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:45016078T>A	ENST00000454753.1	-	0	1851							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CACTCACCAGTTCGACTCTGA	0.488													3	10					0	0	0	0	A	45016078	T	A	45016078	1	1	274	0	1	0	0	0	0	0	0	0	3220	1722	60	5		5	CEACAM20	19	45016078	RNA	SNP	T	TCGA-CV-7091-01A-11D-2012-08	597496	45016078	14112905	135	49190											
HAS1	3036	broad.mit.edu	37	chr19	52222698	52222698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgtacgtggcggggtcctCgtcagcgaagacctcgcgga	7	6	15	13	7	1	1	1	0	0	1	4	3	2	2	2	4	2	1	2	4	2	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:52222698C>T	ENST00000540069.2	-	2	520	c.460G>A	c.(460-462)Gag>Aag	p.E154K	HAS1_ENST00000601714.1_Missense_Mutation_p.E162K|HAS1_ENST00000594621.1_Missense_Mutation_p.E9K|HAS1_ENST00000222115.1_Missense_Mutation_p.E155K			Q92839	HAS1_HUMAN	hyaluronan synthase 1	155					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCGGGGTCCTCGTCAGCGAAG	0.711													3	3					0	0	0	0	T	52222698	C	T	52222698	3	4	274	1	0	0	0	0	1	0	0	0	7011	893	31	1	1289	1	HAS1	19	52222698	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	7206620	52222698	6906285	136	49191											
ZNF616	90317	broad.mit.edu	37	chr19	52618924	52618924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgactgaagaccttgccaCattcattgcatttgtaaggt	10	14	9	8	0	1	3	1	2	0	1	1	3	1	3	2	1	2	3	2	1	2	6			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:52618924C>T	ENST00000600228.1	-	4	1754	c.1493G>A	c.(1492-1494)tGt>tAt	p.C498Y	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GACCTTGCCACATTCATTGCA	0.403													13	97					0	0	0	0	T	52618924	C	T	52618924	3	4	274	1	0	0	0	0	1	0	0	0	18136	478	17	4	856	4	ZNF616	19	52618924	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	396226	52618924	6510059	137	49192											
NLRP7	199713	broad.mit.edu	37	chr19	55441964	55441964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcaagtccaggtttgtgaGgctgcaggcttcttggagcg	7	11	14	9	1	2	1	1	1	1	0	3	2	3	2	1	4	2	4	1	4	1	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:55441964G>T	ENST00000446217.1	-	11	3199	c.2797C>A	c.(2797-2799)Ctc>Atc	p.L933I	NLRP7_ENST00000592784.1_Missense_Mutation_p.L905I|NLRP7_ENST00000590030.1_Missense_Mutation_p.L905I|NLRP7_ENST00000328092.5_Missense_Mutation_p.L877I|NLRP7_ENST00000448121.2_Missense_Mutation_p.L877I|NLRP7_ENST00000340844.2_Missense_Mutation_p.L905I|NLRP7_ENST00000588756.1_Missense_Mutation_p.L905I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	905							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)		AGGTTTGTGAGGCTGCAGGCT	0.463													50	66					3.31993e-32	8.69905e-32	1	0	T	55441964	G	T	55441964	3	4	274	1	0	0	0	0	1	0	0	0	10552	1000	35	4	412	4	NLRP7	19	55441964	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	2823040	55441964	3687019	138	49193											
ZNF470	388566	broad.mit.edu	37	chr19	57089845	57089845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctatgagtgtaaagaatgtgGaaaagccttcaggcagagtg	14	9	13	5	0	1	3	1	1	0	2	1	4	1	4	1	2	1	2	1	2	6	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:57089845G>A	ENST00000330619.8	+	6	2734	c.2048G>A	c.(2047-2049)gGa>gAa	p.G683E	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.G683E	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	683					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AAAGAATGTGGAAAAGCCTTC	0.458													11	47					0	0	0	0	A	57089845	G	A	57089845	3	1	274	1	0	0	0	0	1	0	0	0	18024	1174	41	2	2062	2	ZNF470	19	57089845	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	1647881	57089845	2039138	139	49194											
ZNF547	284306	broad.mit.edu	37	chr19	57879930	57879930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtcccctggcgatggcaGaaatgaaccctgcacaggtg	10	6	14	11	1	0	2	0	1	0	1	1	3	1	2	3	4	2	2	3	4	2	0			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:57879930G>A	ENST00000282282.3	+	2	157	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	AC003002.4_ENST00000597658.1_Missense_Mutation_p.E3K	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCGATGGCAGAAATGAACCC	0.493													7	56					0	0	0	0	A	57879930	G	A	57879930	3	1	274	1	0	0	0	0	1	0	0	0	18074	943	33	2	9	2	ZNF547	19	57879930	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	790085	57879930	1249053	140	49195											
A1BG	1	broad.mit.edu	37	chr19	58862944	58862944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctccccgcgccgtagctgGaagtccactccactcagggg	6	8	11	16	3	2	0	1	0	1	0	5	1	4	1	5	3	1	2	5	3	2	2	rs117988784	by1000genomes	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:58862944G>T	ENST00000263100.3	-	5	784	c.723C>A	c.(721-723)ttC>ttA	p.F241L	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	241	Ig-like V-type 3.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GCCGTAGCTGGAAGTCCACTC	0.637													15	23					1.62849e-17	4.21372e-17	1	0	T	58862944	G	T	58862944	3	4	274	1	0	0	0	0	1	0	0	0	1	1165	41	2	780	2	A1BG	19	58862944	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	983014	58862944	266039	141	49196											
SLC27A5	10998	broad.mit.edu	37	chr19	59011917	59011917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcccagggccccgcagcGccccacatagttgactaagc	8	6	10	17	2	0	1	0	1	0	0	0	1	0	1	5	1	3	2	5	1	2	4			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:59011917G>A	ENST00000263093.2	-	5	1448	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	SLC27A5_ENST00000601355.1_Missense_Mutation_p.R363C	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	447					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCCCCGCAGCGCCCCACATAG	0.602													10	32					0	0	0	0	A	59011917	G	A	59011917	3	1	274	1	0	0	0	0	1	0	0	0	14617	1087	38	1	757	1	SLC27A5	19	59011917	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	148973	59011917	117066	142	49197											
ITPA	3704	broad.mit.edu	37	chr20	3202541	3202541	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggctgggacccctgctttCagcctgatggatatgagcag	7	11	13	10	0	1	2	1	2	0	0	1	4	1	4	3	3	3	3	3	3	1	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr20:3202541C>T	ENST00000380113.3	+	7	658	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	ITPA_ENST00000455664.1_Nonsense_Mutation_p.Q139*|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000399838.3_Nonsense_Mutation_p.Q115*	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	156					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						CCCCTGCTTTCAGCCTGATGG	0.617													9	41					0	0	0	0	T	3202541	C	T	3202541	4	4	274	1	0	0	0	0	0	1	0	0	7968	827	29	2	492	2	ITPA	20	3202541	Nonsense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08		3202541	59822979	143	49198											
PROCR	10544	broad.mit.edu	37	chr20	33764086	33764086	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtgagtttccggccggaGagagccttgtggcaggcaga	7	10	16	8	2	0	3	0	1	0	2	1	5	1	4	3	4	1	3	3	4	0	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr20:33764086G>A	ENST00000216968.4	+	3	520	c.438G>A	c.(436-438)gaG>gaA	p.E146E	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	146					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TCCGGCCGGAGAGAGCCTTGT	0.607													40	76					0	0	0	0	A	33764086	G	A	33764086	2	1	274	1	0	0	0	0	0	0	0	1	12627	933	33	2		2	PROCR	20	33764086	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08	30561545	33764086	29261434	144	49199											
CD40	958	broad.mit.edu	37	chr20	44756788	44756788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctccaggtccccaggatCggctgagagccctggtggtg	5	10	14	12	1	1	1	0	1	1	1	4	3	2	2	4	5	1	1	4	5	0	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr20:44756788C>T	ENST00000372285.3	+	7	643	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Missense_Mutation_p.S170L	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	191					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	TCCCCAGGATCGGCTGAGAGC	0.547									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	102					0	0	0	0	T	44756788	C	T	44756788	3	4	274	1	0	0	0	0	1	0	0	0	3044	893	31	1	597	1	CD40	20	44756788	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	10992702	44756788	18268732	145	49200											
SULF2	55959	broad.mit.edu	37	chr20	46301111	46301111	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgcagcttcagcttcccCgtggcgtcctccacacactg	6	11	8	16	2	1	0	1	0	0	0	4	0	4	0	4	1	3	3	4	1	1	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr20:46301111C>A	ENST00000359930.4	-	11	2258	c.1407G>T	c.(1405-1407)acG>acT	p.T469T	SULF2_ENST00000361612.4_Silent_p.T469T|SULF2_ENST00000467815.1_Silent_p.T469T|SULF2_ENST00000484875.1_Silent_p.T469T	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	469					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.T469T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCAGCTTCCCCGTGGCGTCCT	0.652													4	31					0.00024832	0.000571136	1	0	A	46301111	C	A	46301111	2	1	274	1	0	0	0	0	0	0	0	1	15461	639	23	3		3	SULF2	20	46301111	Silent	SNP	C	TCGA-CV-7091-01A-11D-2012-08	1544323	46301111	16724409	146	49201											
COMT	1312	broad.mit.edu	37	chr22	19950331	19950331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccatgaacgtgggcgaCaagaaaggtggggtccgggc	9	5	19	8	3	0	2	0	1	0	1	1	3	1	2	2	6	1	0	2	6	3	0			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr22:19950331C>T	ENST00000361682.6	+	3	664	c.282C>T	c.(280-282)gaC>gaT	p.D94D	COMT_ENST00000407537.1_Silent_p.D44D|COMT_ENST00000406520.3_Silent_p.D94D|COMT_ENST00000403710.1_Silent_p.D94D|COMT_ENST00000403184.1_Silent_p.D94D|COMT_ENST00000449653.1_Silent_p.D44D	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	94					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	ACGTGGGCGACAAGAAAGGTG	0.612													7	35					0	0	0	0	T	19950331	C	T	19950331	2	4	274	1	0	0	0	0	0	0	0	1	3755	477	17	4		4	COMT	22	19950331	Silent	SNP	C	TCGA-CV-7091-01A-11D-2012-08		19950331	31354235	147	49202											
HIC2	23119	broad.mit.edu	37	chr22	21800083	21800083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcttattctgagctgggggGcacccctgatgagcccatgg	6	10	13	12	0	2	3	0	3	2	0	2	3	2	3	3	4	2	2	3	4	1	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr22:21800083G>T	ENST00000443632.2	+	2	1271	c.899G>T	c.(898-900)gGc>gTc	p.G300V	HIC2_ENST00000407598.2_Missense_Mutation_p.G300V|HIC2_ENST00000407464.2_Missense_Mutation_p.G300V			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	300					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAGCTGGGGGGCACCCCTGAT	0.677													15	41					8.60227e-14	2.13254e-13	1	0	T	21800083	G	T	21800083	3	4	274	1	0	0	0	0	1	0	0	0	7152	1203	42	4	905	4	HIC2	22	21800083	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	1849752	21800083	29504483	148	49203											
RGL4	266747	broad.mit.edu	37	chr22	24034239	24034239	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaggaagctgctcacaaatCtgcctgcagctgcagtcttg	9	10	11	11	0	3	1	1	1	2	0	3	2	3	2	1	1	6	5	1	1	2	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr22:24034239C>G	ENST00000290691.5	+	1	1192	c.22C>G	c.(22-24)Ctg>Gtg	p.L8V	RGL4_ENST00000401461.1_Intron|GUSBP11_ENST00000417194.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	8					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GCTCACAAATCTGCCTGCAGC	0.612													23	31					0	0	0	0	G	24034239	C	G	24034239	3	3	274	1	0	0	0	0	1	0	0	0	13361	912	32	2	24	2	RGL4	22	24034239	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	2234156	24034239	27270327	149	49204											
OSBP2	23762	broad.mit.edu	37	chr22	31302140	31302140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggacggattccgggggagCaggccacaagcccacccacc	10	2	14	15	2	0	0	0	0	0	0	1	3	1	3	5	5	2	1	5	5	1	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr22:31302140C>A	ENST00000382310.3	+	12	2581	c.2545C>A	c.(2545-2547)Cag>Aag	p.Q849K	OSBP2_ENST00000535268.1_Intron|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000446658.2_Intron|OSBP2_ENST00000401475.1_Intron|OSBP2_ENST00000332585.6_Intron|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000437268.2_Intron			Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	0					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TCCGGGGGAGCAGGCCACAAG	0.697													16	27					6.31663e-08	1.50292e-07	1	0	A	31302140	C	A	31302140	3	1	274	1	0	0	0	0	1	0	0	0	11345	725	25	4		4	OSBP2	22	31302140	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	7267901	31302140	20002426	150	49205											
SLC25A6	293	broad.mit.edu	37	chrX	1508618	1508618	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atctgcttgctggcgtgctgGacctgggggacgcagagggt	5	9	18	9	2	1	1	0	0	1	1	1	3	1	3	1	5	3	4	1	5	0	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:1508618G>C	ENST00000381401.5	-	2	828	c.114C>G	c.(112-114)gtC>gtG	p.V38V	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	38					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TGGCGTGCTGGACCTGGGGGA	0.587													26	199					0	0	0	0	C	1508618	G	C	1508618	2	2	274	1	0	0	0	0	0	0	0	1	14601	1161	41	2		2	SLC25A6	23	1508618	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08		1508618	153761942	151	49206											
FRMPD4	9758	broad.mit.edu	37	chrX	12735807	12735807	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcagaccgagttcccGgcctccaagacccccgctgg	9	4	12	16	3	0	3	0	0	0	3	2	5	2	3	6	2	1	3	6	2	2	1			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:12735807G>A	ENST00000380682.1	+	16	3368	c.2862G>A	c.(2860-2862)ccG>ccA	p.P954P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	954					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCGAGTTCCCGGCCTCCAAGA	0.612													76	42					0	0	0	0	A	12735807	G	A	12735807	2	1	274	1	0	0	0	0	0	0	0	1	6107	1103	39	1		1	FRMPD4	23	12735807	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08	11227189	12735807	142534753	152	49207											
ACOT9	23597	broad.mit.edu	37	chrX	23724804	23724804	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcctctcctcagcgctgggGgccattttcagtaacgacgt	6	11	11	13	3	3	0	2	0	1	0	5	1	4	0	3	2	2	2	3	2	1	3			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:23724804G>A	ENST00000379303.5	-	11	911	c.783C>T	c.(781-783)gcC>gcT	p.A261A	ACOT9_ENST00000379295.1_Silent_p.A192A|ACOT9_ENST00000336430.7_Silent_p.A252A	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	252					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						CAGCGCTGGGGGCCATTTTCA	0.488													16	44					0	0	0	0	A	23724804	G	A	23724804	2	1	274	1	0	0	0	0	0	0	0	1	157	1219	43	4		4	ACOT9	23	23724804	Silent	SNP	G	TCGA-CV-7091-01A-11D-2012-08	10988997	23724804	131545756	153	49208											
SAT1	6303	broad.mit.edu	37	chrX	23801827	23801827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtaatcttaactgaaaaagGtaattcaacagtggcgggac	16	9	10	6	1	2	1	1	1	1	0	2	2	2	2	0	3	2	2	0	3	6	4			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:23801827G>A	ENST00000379251.3	+	2	298	c.119G>A	c.(118-120)gGt>gAt	p.G40D	SAT1_ENST00000379253.3_Splice_Site|SAT1_ENST00000489394.1_Splice_Site|SAT1_ENST00000379254.1_Splice_Site|SAT1_ENST00000379270.4_Splice_Site			P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	39	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	ACTGAAAAAGGTAATTCAACA	0.488													10	11					0	0	0	0	A	23801827	G	A	23801827	3	1	274	1	0	0	0	0	1	0	0	0	13937	1275	44	4	125	4	SAT1	23	23801827	Missense_Mutation	SNP	G	TCGA-CV-7091-01A-11D-2012-08	77023	23801827	131468733	154	49209											
MAGEB2	4113	broad.mit.edu	37	chrX	30237076	30237076	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttcctgttgtacaagtatAaaataaaaaagtccgttaca	17	12	6	6	1	0	0	0	0	0	0	2	0	2	0	2	0	2	5	2	0	9	7			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chrX:30237076A>G	ENST00000378988.4	+	2	480	c.379A>G	c.(379-381)Aaa>Gaa	p.K127E		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	127	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GTACAAGTATAAAATAAAAAA	0.473													5	2					0	0	0	0	G	30237076	A	G	30237076	3	3	274	1	0	0	0	0	1	0	0	0	9245	363	13	5	381	5	MAGEB2	23	30237076	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	6435249	30237076	125033484	155	49210											
TRO	7216	broad.mit.edu	37	chrX	54955857	54955857	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccagtgtctgttttggTggctctcccagctccagtgg	5	12	12	12	0	2	0	0	0	2	0	4	0	3	0	3	3	2	4	3	3	0	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:54955857T>G	ENST00000173898.7	+	12	2812	c.2700T>G	c.(2698-2700)ggT>ggG	p.G900G	TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.G431G|TRO_ENST00000375041.2_Silent_p.G503G|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	900	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCTGTTTTGGTGGCTCTCCCA	0.557													3	51					0	0	0	0	G	54955857	T	G	54955857	2	3	274	1	0	0	0	0	0	0	0	1	16669	1683	59	5		5	TRO	23	54955857	Silent	SNP	T	TCGA-CV-7091-01A-11D-2012-08	24718781	54955857	100314703	156	49211											
NAP1L3	4675	broad.mit.edu	37	chrX	92927031	92927031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggatttcaatttctcCagtagcagttgtgcgactct	7	15	10	9	1	3	0	1	0	2	0	4	2	3	1	1	2	2	4	1	2	2	4			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:92927031C>T	ENST00000373079.3	-	1	1536	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	425					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCAATTTCTCCAGTAGCAGTT	0.443													6	4					0	0	0	0	T	92927031	C	T	92927031	3	4	274	1	0	0	0	0	1	0	0	0	10228	603	21	4	251	4	NAP1L3	23	92927031	Missense_Mutation	SNP	C	TCGA-CV-7091-01A-11D-2012-08	37971174	92927031	62343529	157	49212											
LUZP4	51213	broad.mit.edu	37	chrX	114540929	114540929	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcccgaaaccacttagagAgatctctttctcagtcagac	12	10	7	12	1	3	3	2	0	2	3	6	6	4	3	2	0	1	0	2	0	2	2			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:114540929A>G	ENST00000371920.3	+	4	509	c.502A>G	c.(502-504)Aga>Gga	p.R168G	LUZP4_ENST00000451986.2_Missense_Mutation_p.R86G	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	168						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CCACTTAGAGAGATCTCTTTC	0.448													41	18					0	0	0	0	G	114540929	A	G	114540929	3	3	274	1	0	0	0	0	1	0	0	0	9152	296	11	5	516	5	LUZP4	23	114540929	Missense_Mutation	SNP	A	TCGA-CV-7091-01A-11D-2012-08	21613898	114540929	40729631	158	49213											
SKI	6497	broad.mit.edu	37	chr1	2160913	2160913	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctgctggtgcccgagctCtacagcagcccgagcgccgc	5	5	15	16	4	1	0	0	0	1	0	1	2	1	0	3	2	7	4	3	2	1	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:2160913C>T	ENST00000378536.4	+	1	780	c.708C>T	c.(706-708)ctC>ctT	p.L236L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	236					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TGCCCGAGCTCTACAGCAGCC	0.682													10	17					0	0	0	0	T	2160913	C	T	2160913	2	4	275	1	0	0	0	0	0	0	0	1	14445	900	32	2		2	SKI	1	2160913	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08		2160913	247089708	1	49214											
KIF1B	23095	broad.mit.edu	37	chr1	10384836	10384836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagaggctggatttgatgcGagagatgtatgatagggcag	11	9	17	4	1	0	4	0	2	0	2	0	7	0	5	0	3	1	4	0	3	2	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:10384836G>A	ENST00000377086.1	+	26	2760	c.2558G>A	c.(2557-2559)cGa>cAa	p.R853Q	KIF1B_ENST00000263934.6_Missense_Mutation_p.R807Q|KIF1B_ENST00000377081.1_Missense_Mutation_p.R853Q			O60333	KIF1B_HUMAN	kinesin family member 1B	853					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GATTTGATGCGAGAGATGTAT	0.463													20	53					0	0	0	0	A	10384836	G	A	10384836	3	1	275	1	0	0	0	0	1	0	0	0	8335	1058	37	1	3999	1	KIF1B	1	10384836	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	8223923	10384836	238865785	2	49215											
FAM46B	115572	broad.mit.edu	37	chr1	27332876	27332876	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaggtggcagtacttgagGaggccaccacctcggatctc	9	7	14	11	1	1	1	0	1	1	0	3	4	1	4	3	6	1	2	3	6	1	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:27332876G>A	ENST00000289166.5	-	2	1002	c.837C>T	c.(835-837)ctC>ctT	p.L279L		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	279										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		AGTACTTGAGGAGGCCACCAC	0.677													9	18					0	0	0	0	A	27332876	G	A	27332876	2	1	275	1	0	0	0	0	0	0	0	1	5613	1161	41	2		2	FAM46B	1	27332876	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	16948040	27332876	221917745	3	49216											
NCDN	23154	broad.mit.edu	37	chr1	36031042	36031042	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgccctggctggccccCgctgccctgcgctcccgctg	0	8	12	21	3	0	0	0	0	0	0	1	0	1	0	5	2	4	5	5	2	0	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:36031042C>T	ENST00000373243.2	+	7	2351	c.1968C>T	c.(1966-1968)ccC>ccT	p.P656P	NCDN_ENST00000356090.4_Silent_p.P656P|NCDN_ENST00000373253.3_Silent_p.P639P	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	656					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCTGGCCCCCGCTGCCCTGC	0.682													11	20					0	0	0	0	T	36031042	C	T	36031042	2	4	275	1	0	0	0	0	0	0	0	1	10284	639	23	1		1	NCDN	1	36031042	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	8698166	36031042	213219579	4	49217											
ELAVL4	1996	broad.mit.edu	37	chr1	50610702	50610702	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatggaccctccagcaacaAcagaaactgtccttctccca	13	7	5	16	0	1	1	0	0	1	1	4	2	3	2	4	1	4	1	4	1	4	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:50610702A>G	ENST00000371824.1	+	2	340	c.83A>G	c.(82-84)aAc>aGc	p.N28S	ELAVL4_ENST00000371827.1_Missense_Mutation_p.N28S|ELAVL4_ENST00000371819.1_Missense_Mutation_p.N33S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.N33S|ELAVL4_ENST00000371823.4_Missense_Mutation_p.N28S|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000357083.4_Missense_Mutation_p.N45S|ELAVL4_ENST00000448907.2_Missense_Mutation_p.N31S			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	28					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCCAGCAACAACAGAAACTGT	0.418													12	25					0	0	0	0	G	50610702	A	G	50610702	3	3	275	1	0	0	0	0	1	0	0	0	5090	43	2	5	188	5	ELAVL4	1	50610702	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08	14579660	50610702	198639919	5	49218											
FGGY	55277	broad.mit.edu	37	chr1	59812064	59812064	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccccgaaacttctgtggctGaaagaggtgagtgcataggg	10	8	15	8	1	1	3	0	2	1	1	1	4	1	3	2	3	2	2	2	3	3	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:59812064G>C	ENST00000371218.4	+	4	643	c.459G>C	c.(457-459)ctG>ctC	p.L153L	FGGY_ENST00000303721.7_Silent_p.L153L|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	153					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TTCTGTGGCTGAAAGAGGTGA	0.498													9	19					0	0	0	0	C	59812064	G	C	59812064	2	2	275	1	0	0	0	0	0	0	0	1	5916	1277	45	2		2	FGGY	1	59812064	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	9201362	59812064	189438557	6	49219											
LEPR	3953	broad.mit.edu	37	chr1	66101886	66101886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttttagccagaaacgtttGagcatctttttatcaagcat	11	16	6	8	1	3	2	1	1	2	1	3	2	3	2	1	0	4	3	1	0	4	6			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:66101886G>C	ENST00000349533.6	+	20	2871	c.2686G>C	c.(2686-2688)Gag>Cag	p.E896Q	LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	896	Required for JAK2 activation (By similarity).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGAAACGTTTGAGCATCTTTT	0.348													29	95					0	0	0	0	C	66101886	G	C	66101886	3	2	275	1	0	0	0	0	1	0	0	0	8781	1291	45	2	2986	2	LEPR	1	66101886	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	6289822	66101886	183148735	7	49220											
HSD3B1	3283	broad.mit.edu	37	chr1	120057080	120057080	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggccaatttacacctatCgaccgcccttcaaccgccac	10	8	5	18	3	2	0	2	0	0	0	3	1	2	0	6	1	2	0	6	1	4	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:120057080C>T	ENST00000235547.6	+	4	1079	c.940C>T	c.(940-942)Cga>Tga	p.R314*	HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.R312*|HSD3B1_ENST00000369413.3_Nonsense_Mutation_p.R312*	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	312					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TTACACCTATCGACCGCCCTT	0.473													40	118					0	0	0	0	T	120057080	C	T	120057080	4	4	275	1	0	0	0	0	0	1	0	0	7440	876	31	1	944	1	HSD3B1	1	120057080	Nonsense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	53955194	120057080	129193541	8	49221											
ZNF697	90874	broad.mit.edu	37	chr1	120165638	120165638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttacgcccgaagcccttcCcgcactcgcggcacacgtag	8	6	10	17	6	0	0	0	0	0	0	2	1	1	0	3	1	2	4	3	1	3	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:120165638C>T	ENST00000421812.2	-	3	1447	c.1328G>A	c.(1327-1329)gGg>gAg	p.G443E		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAAGCCCTTCCCGCACTCGCG	0.667													3	6					0	0	0	0	T	120165638	C	T	120165638	3	4	275	1	0	0	0	0	1	0	0	0	18195	623	22	4	313	4	ZNF697	1	120165638	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	108558	120165638	129084983	9	49222											
SETDB1	9869	broad.mit.edu	37	chr1	150900253	150900253	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctacagtggagtctgaagaGattgcagagctgcaacaggc	12	7	14	8	0	1	3	0	1	1	2	1	5	1	4	0	2	5	4	0	2	3	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:150900253G>A	ENST00000271640.5	+	2	253	c.63G>A	c.(61-63)gaG>gaA	p.E21E	SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368962.2_Silent_p.E21E|SETDB1_ENST00000368963.1_Silent_p.E21E|SETDB1_ENST00000368969.4_Silent_p.E21E	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTCTGAAGAGATTGCAGAGC	0.463													17	92					0	0	0	0	A	150900253	G	A	150900253	2	1	275	1	0	0	0	0	0	0	0	1	14225	933	33	2		2	SETDB1	1	150900253	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	30734615	150900253	98350368	10	49223											
FLG	2312	broad.mit.edu	37	chr1	152279854	152279854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcctgagtgcccatgggagGcatcagaccttccctgggat	8	9	12	12	0	1	2	1	1	0	1	3	4	3	4	4	3	1	1	4	3	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:152279854G>A	ENST00000368799.1	-	3	7543	c.7508C>T	c.(7507-7509)gCc>gTc	p.A2503V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2503	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGGGAGGCATCAGACCT	0.547									Ichthyosis				183	353					0	0	0	0	A	152279854	G	A	152279854	3	1	275	1	0	0	0	0	1	0	0	0	5967	1203	42	4	4681	4	FLG	1	152279854	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	1379601	152279854	96970767	11	49224											
CD1D	912	broad.mit.edu	37	chr1	158152778	158152778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtatgggtgaagtggatgCggggtgagcaggagcagcag	9	7	20	5	1	0	2	0	2	0	0	0	4	0	4	0	5	4	4	0	5	2	1	rs139209490	by1000genomes	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:158152778C>T	ENST00000368171.3	+	5	1217	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	240	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAAGTGGATGCGGGGTGAGCA	0.632													5	142					0	0	0	0	T	158152778	C	T	158152778	3	4	275	1	0	0	0	0	1	0	0	0	3006	759	27	1	732	1	CD1D	1	158152778	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	5872924	158152778	91097843	12	49225											
OR10R2	343406	broad.mit.edu	37	chr1	158450344	158450344	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcatttgtggagttcttgTacttgtggttccctttctgt	4	21	9	7	0	3	0	1	0	2	0	4	1	4	1	1	2	1	3	1	2	1	8			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:158450344T>C	ENST00000368152.1	+	1	677	c.677T>C	c.(676-678)gTa>gCa	p.V226A	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGAGTTCTTGTACTTGTGGTT	0.413													26	87					0	0	0	0	C	158450344	T	C	158450344	3	2	275	1	0	0	0	0	1	0	0	0	10988	1638	57	5	679	5	OR10R2	1	158450344	Missense_Mutation	SNP	T	TCGA-CV-7095-01A-21D-2012-08	297566	158450344	90800277	13	49226											
PAPPA2	60676	broad.mit.edu	37	chr1	176564443	176564443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcagctggcagctgaGcgtccaccaggtccacaatt	11	7	9	14	1	1	1	1	1	0	0	3	1	3	1	3	2	4	3	3	2	2	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:176564443G>A	ENST00000367662.3	+	3	2867	c.1703G>A	c.(1702-1704)aGc>aAc	p.S568N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S568N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	568	Metalloprotease.			S -> N (in Ref. 2; AAL17780).	cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGCAGCTGAGCGTCCACCAG	0.567													21	81					0	0	0	0	A	176564443	G	A	176564443	3	1	275	1	0	0	0	0	1	0	0	0	11504	971	34	4	1709	4	PAPPA2	1	176564443	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	18114099	176564443	72686178	14	49227											
CEP350	9857	broad.mit.edu	37	chr1	179989427	179989427	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctttgtccagcagaattGaaagtgaagccaagaaatta	15	11	8	7	0	1	4	0	2	1	2	2	4	2	4	2	0	2	1	2	0	6	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:179989427G>C	ENST00000367607.3	+	12	2936	c.2518G>C	c.(2518-2520)Gaa>Caa	p.E840Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	840						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGCAGAATTGAAAGTGAAGC	0.448													57	169					0	0	0	0	C	179989427	G	C	179989427	3	2	275	1	0	0	0	0	1	0	0	0	3283	1291	45	2	2560	2	CEP350	1	179989427	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	3424984	179989427	69261194	15	49228											
ACBD6	84320	broad.mit.edu	37	chr1	180471273	180471273	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagccttctcaaacagctcGgccaggcaactggtctcctc	8	8	9	16	1	2	0	1	0	2	0	6	0	2	0	3	3	4	3	3	3	2	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:180471273G>A	ENST00000367595.3	-	1	816	c.129C>T	c.(127-129)gcC>gcT	p.A43A		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	43	ACB.					cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CAAACAGCTCGGCCAGGCAAC	0.612													9	33					0	0	0	0	A	180471273	G	A	180471273	2	1	275	1	0	0	0	0	0	0	0	1	126	1103	39	1		1	ACBD6	1	180471273	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	481846	180471273	68779348	16	49229											
F13B	2165	broad.mit.edu	37	chr1	197024886	197024886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accattttccttgttcgcaaCgagatatttttgatcccctc	8	16	5	12	2	0	2	0	1	0	1	4	3	2	2	4	0	1	2	4	0	2	7			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:197024886C>T	ENST00000367412.1	-	8	1356	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	438	Sushi 7.				blood coagulation	extracellular region		p.R438H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTGTTCGCAACGAGATATTTT	0.413													11	53					0	0	0	0	T	197024886	C	T	197024886	3	4	275	1	0	0	0	0	1	0	0	0	5379	536	19	1	692	1	F13B	1	197024886	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	16553613	197024886	52225735	17	49230											
CNTN2	6900	broad.mit.edu	37	chr1	205039107	205039107	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtccggccctacacgccCtttgaggtcaagatccgcag	8	7	11	15	4	1	2	1	1	0	1	3	2	3	2	4	2	2	1	4	2	2	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:205039107C>A	ENST00000331830.4	+	18	2633	c.2349C>A	c.(2347-2349)ccC>ccA	p.P783P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	783	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCTACACGCCCTTTGAGGTCA	0.667													21	82					1.50039e-11	1.67132e-11	1	0	A	205039107	C	A	205039107	2	1	275	1	0	0	0	0	0	0	0	1	3671	668	24	4		4	CNTN2	1	205039107	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	8014221	205039107	44211514	18	49231											
RPS6KC1	26750	broad.mit.edu	37	chr1	213277818	213277818	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatttgatgaaactgttatCgaagagagaagacaatgtgc	15	10	11	5	2	0	5	0	2	0	3	1	8	0	5	0	0	2	1	0	0	5	2	rs56056039	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:213277818C>A	ENST00000366960.3	+	4	435	c.285C>A	c.(283-285)atC>atA	p.I95I	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Silent_p.I83I|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000543354.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	95	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAACTGTTATCGAAGAGAGAA	0.373													8	50					3.09899e-07	3.41957e-07	1	0	A	213277818	C	A	213277818	2	1	275	1	0	0	0	0	0	0	0	1	13743	874	31	3		3	RPS6KC1	1	213277818	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	8238711	213277818	35972803	19	49232											
LIN9	286826	broad.mit.edu	37	chr1	226421074	226421074	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaaaatagctgtaagccTggaaattaagtctgtcagat	16	11	8	6	0	2	1	1	0	1	1	2	2	2	2	1	1	3	2	1	1	7	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:226421074T>C	ENST00000328205.5	-	13	1989	c.1444A>G	c.(1444-1446)Agg>Ggg	p.R482G	LIN9_ENST00000366801.1_Missense_Mutation_p.R431G|LIN9_ENST00000481685.1_Missense_Mutation_p.R447G	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	466					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GCTGTAAGCCTGGAAATTAAG	0.368													3	146					0	0	0	0	C	226421074	T	C	226421074	3	2	275	1	0	0	0	0	1	0	0	0	8868	1579	55	5	244	5	LIN9	1	226421074	Missense_Mutation	SNP	T	TCGA-CV-7095-01A-21D-2012-08	13143256	226421074	22829547	20	49233											
OBSCN	84033	broad.mit.edu	37	chr1	228459794	228459794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagaagctgagctccagctCgaaaatgcgtgtggaggccg	11	6	15	9	3	0	2	0	1	0	1	2	5	1	3	2	2	4	3	2	2	4	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:228459794C>T	ENST00000570156.2	+	20	5932	c.5858C>T	c.(5857-5859)tCg>tTg	p.S1953L	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.S425L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	934	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTCCAGCTCGAAAATGCGT	0.667													13	72					0	0	0	0	T	228459794	C	T	228459794	3	4	275	1	0	0	0	0	1	0	0	0	10883	899	31	1		1	OBSCN	1	228459794	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	2038720	228459794	20790827	21	49234											
OBSCN	84033	broad.mit.edu	37	chr1	228495827	228495827	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagagcctgaggtgaccaTtgtacgggggctggttgatg	7	10	16	8	1	1	4	1	3	0	1	1	4	1	4	2	4	2	3	2	4	1	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:228495827T>C	ENST00000570156.2	+	58	15427	c.15353T>C	c.(15352-15354)aTt>aCt	p.I5118T	OBSCN_ENST00000366709.4_Missense_Mutation_p.I1280T|OBSCN_ENST00000422127.1_Missense_Mutation_p.I4161T|OBSCN_ENST00000284548.11_Missense_Mutation_p.I4161T|OBSCN_ENST00000366707.4_Missense_Mutation_p.I1795T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4161					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGTGACCATTGTACGGGGG	0.612													14	68					0	0	0	0	C	228495827	T	C	228495827	3	2	275	1	0	0	0	0	1	0	0	0	10883	1493	52	5	12664	5	OBSCN	1	228495827	Missense_Mutation	SNP	T	TCGA-CV-7095-01A-21D-2012-08	36033	228495827	20754794	22	49235											
PCNXL2	80003	broad.mit.edu	37	chr1	233394516	233394516	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtagactcagtgggtctccGggttgagaagtatcgatgag	9	11	15	6	2	2	3	1	2	1	2	4	5	2	3	1	2	0	3	1	2	3	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:233394516G>A	ENST00000258229.8	-	5	1326	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	364						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGGGTCTCCGGGTTGAGAAG	0.517													29	119					0	0	0	0	A	233394516	G	A	233394516	2	1	275	1	0	0	0	0	0	0	0	1	11663	1103	39	1		1	PCNXL2	1	233394516	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	4898689	233394516	15856105	23	49236											
IRF2BP2	359948	broad.mit.edu	37	chr1	234745081	234745081	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagctgccgcgccgtctCgatgacgaactcgacgcggt	6	8	13	14	8	1	2	0	2	1	0	3	5	1	2	2	1	3	1	2	1	1	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:234745081C>A	ENST00000366609.3	-	1	190	c.160G>T	c.(160-162)Gag>Tag	p.E54*	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Nonsense_Mutation_p.E54*	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CGCGCCGTCTCGATGACGAAC	0.746													4	5					0.00116845	0.00126552	1	0	A	234745081	C	A	234745081	4	1	275	1	0	0	0	0	0	1	0	0	7883	893	31	3	1611	3	IRF2BP2	1	234745081	Nonsense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	1350565	234745081	14505540	24	49237											
RBM34	23029	broad.mit.edu	37	chr1	235295270	235295270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagttttctccccatgagttCagaattatttaatttcagag	11	16	7	7	0	3	3	2	1	1	2	4	4	3	3	2	0	0	2	2	0	3	7			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:235295270C>G	ENST00000408888.3	-	11	1281	c.1051G>C	c.(1051-1053)Gaa>Caa	p.E351Q	RBM34_ENST00000495224.1_5'UTR|RBM34_ENST00000366606.3_Missense_Mutation_p.E346Q			P42696	RBM34_HUMAN	RNA binding motif protein 34	351	RRM 2.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CCCATGAGTTCAGAATTATTT	0.318													12	43					0	0	0	0	G	235295270	C	G	235295270	3	3	275	1	0	0	0	0	1	0	0	0	13213	835	29	2	245	2	RBM34	1	235295270	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	550189	235295270	13955351	25	49238											
KIF26B	55083	broad.mit.edu	37	chr1	245772637	245772637	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcattccctgtgccatctCttggctcttcaagctcataa	8	14	5	14	0	5	0	3	0	2	0	7	0	6	0	2	1	2	2	2	1	2	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:245772637C>G	ENST00000366518.4	+	5	682	c.578C>G	c.(577-579)tCt>tGt	p.S193C	KIF26B_ENST00000407071.2_Missense_Mutation_p.S574C			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	574					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTGCCATCTCTTGGCTCTTC	0.537													5	12					0	0	0	0	G	245772637	C	G	245772637	3	3	275	1	0	0	0	0	1	0	0	0	8346	913	32	2	1751	2	KIF26B	1	245772637	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	10477367	245772637	3477984	26	49239											
ALLC	55821	broad.mit.edu	37	chr2	3749215	3749215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaagtggaaaccactgcttCcagtgaccaaggttcgtgtg	11	9	11	10	1	0	1	0	1	0	0	2	2	1	2	3	2	2	2	3	2	3	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:3749215C>T	ENST00000252505.3	+	11	1126	c.964C>T	c.(964-966)Cca>Tca	p.P322S	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	341							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACCACTGCTTCCAGTGACCAA	0.488										HNSCC(21;0.051)			6	13					0	0	0	0	T	3749215	C	T	3749215	3	4	275	1	0	0	0	0	1	0	0	0	534	855	30	2	1002	2	ALLC	2	3749215	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08		3749215	239450158	27	49240											
ZNF513	130557	broad.mit.edu	37	chr2	27601470	27601470	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtacgctgatgccgcctCaggttgcccaggctgctgca	5	9	14	13	2	1	1	1	1	0	0	1	1	1	1	3	3	5	6	3	3	1	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:27601470C>T	ENST00000323703.6	-	3	861	c.663G>A	c.(661-663)ctG>ctA	p.L221L	ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Silent_p.L159L	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	221					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCCGCCTCAGGTTGCCCA	0.682													15	46					0	0	0	0	T	27601470	C	T	27601470	2	4	275	1	0	0	0	0	0	0	0	1	18053	813	29	2		2	ZNF513	2	27601470	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	23852255	27601470	215597903	28	49241											
BIRC6	57448	broad.mit.edu	37	chr2	32724766	32724766	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaccactatatcacttgctCagacaaagtaatgtcaagaa	16	9	6	10	0	3	2	3	0	0	2	3	2	3	2	1	0	1	3	1	0	6	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:32724766C>G	ENST00000421745.2	+	46	8755	c.8621C>G	c.(8620-8622)tCa>tGa	p.S2874*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2874					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCACTTGCTCAGACAAAGTA	0.433													44	123					0	0	0	0	G	32724766	C	G	32724766	4	3	275	1	0	0	0	0	0	1	0	0	1443	838	29	2	8803	2	BIRC6	2	32724766	Nonsense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	5123296	32724766	210474607	29	49242											
FANCL	55120	broad.mit.edu	37	chr2	58388764	58388764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataacaaattccacaatccaTagtaaaatccttcaaaagaa	21	9	2	9	0	1	1	1	0	0	1	4	1	4	1	3	0	1	1	3	0	9	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:58388764T>C	ENST00000402135.3	-	12	964	c.928A>G	c.(928-930)Atg>Gtg	p.M310V	FANCL_ENST00000403295.3_Missense_Mutation_p.M277V|FANCL_ENST00000403676.1_Missense_Mutation_p.M188V|FANCL_ENST00000233741.4_Missense_Mutation_p.M305V	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	305					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CCACAATCCATAGTAAAATCC	0.333								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				2	19					0	0	0	0	C	58388764	T	C	58388764	3	2	275	1	0	0	0	0	1	0	0	0	5715	1406	49	5	226	5	FANCL	2	58388764	Missense_Mutation	SNP	T	TCGA-CV-7095-01A-21D-2012-08	25663998	58388764	184810609	30	49243											
POLR1A	25885	broad.mit.edu	37	chr2	86267597	86267597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgggtggagggctctcCgatgctctgggcagccagca	6	8	15	12	1	3	0	0	0	3	0	4	2	3	1	2	4	3	4	2	4	0	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:86267597C>T	ENST00000263857.6	-	25	4036	c.3658G>A	c.(3658-3660)Gga>Aga	p.G1220R	POLR1A_ENST00000409681.1_Missense_Mutation_p.G1220R			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1220					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGGGCTCTCCGATGCTCTGG	0.627													11	41					0	0	0	0	T	86267597	C	T	86267597	3	4	275	1	0	0	0	0	1	0	0	0	12281	661	23	1	1544	1	POLR1A	2	86267597	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	27878833	86267597	156931776	31	49244											
LONRF2	164832	broad.mit.edu	37	chr2	100916183	100916183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacagttcactgacctttCttgggaatttttccaggggc	10	13	9	9	0	2	1	1	1	1	0	3	2	3	2	2	3	1	1	2	3	3	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:100916183C>T	ENST00000393437.3	-	5	1902	c.1263G>A	c.(1261-1263)aaG>aaA	p.K421K	LONRF2_ENST00000409647.1_Silent_p.K178K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	421					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ACTGACCTTTCTTGGGAATTT	0.408													22	68					0	0	0	0	T	100916183	C	T	100916183	2	4	275	1	0	0	0	0	0	0	0	1	8959	912	32	2		2	LONRF2	2	100916183	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	14648586	100916183	142283190	32	49245											
SLC5A7	60482	broad.mit.edu	37	chr2	108608589	108608589	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcggaggagggtatatcaAtggcacagctgaagcagttt	11	9	15	6	1	1	1	1	1	0	0	2	3	1	3	0	5	2	5	0	5	4	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:108608589A>G	ENST00000264047.2	+	3	482	c.206A>G	c.(205-207)aAt>aGt	p.N69S	SLC5A7_ENST00000409059.1_Missense_Mutation_p.N69S|SLC5A7_ENST00000540517.1_5'UTR	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	69					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGGTATATCAATGGCACAGCT	0.458													16	24					0	0	0	0	G	108608589	A	G	108608589	3	3	275	1	0	0	0	0	1	0	0	0	14758	101	4	5	212	5	SLC5A7	2	108608589	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08	7692406	108608589	134590784	33	49246											
CCDC93	54520	broad.mit.edu	37	chr2	118758500	118758500	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaccgagacaattttttctGacagagctctgttcagaaaa	13	11	9	8	1	3	4	1	1	2	3	3	6	3	5	1	1	1	2	1	1	3	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:118758500G>C	ENST00000376300.2	-	4	397	c.260C>G	c.(259-261)tCa>tGa	p.S87*	CCDC93_ENST00000319432.5_Nonsense_Mutation_p.S87*|AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	87										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AATTTTTTCTGACAGAGCTCT	0.463													14	29					0	0	0	0	C	118758500	G	C	118758500	4	2	275	1	0	0	0	0	0	1	0	0	2899	1294	45	2	1719	2	CCDC93	2	118758500	Nonsense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	10149911	118758500	124440873	34	49247											
LIMS2	55679	broad.mit.edu	37	chr2	128412466	128412466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgcagtacttccggcctTcaaactgcaaaggggtcgca	9	9	11	12	3	1	0	1	0	0	0	4	0	2	0	2	3	3	5	2	3	3	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:128412466T>C	ENST00000409455.1	-	3	796	c.161A>G	c.(160-162)gAa>gGa	p.E54G	LIMS2_ENST00000545738.2_Missense_Mutation_p.E81G|LIMS2_ENST00000410011.1_Missense_Mutation_p.E54G|LIMS2_ENST00000355119.4_Missense_Mutation_p.E59G|LIMS2_ENST00000324938.5_Missense_Mutation_p.E83G|LIMS2_ENST00000409808.2_Missense_Mutation_p.E54G			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	59	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CTTCCGGCCTTCAAACTGCAA	0.582													3	23					0	0	0	0	C	128412466	T	C	128412466	3	2	275	1	0	0	0	0	1	0	0	0	8858	1783	62	5	881	5	LIMS2	2	128412466	Missense_Mutation	SNP	T	TCGA-CV-7095-01A-21D-2012-08	9653966	128412466	114786907	35	49248											
ACVR1C	130399	broad.mit.edu	37	chr2	158390507	158390507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagttaggcgggccgctcCgttggcataccaacactcac	9	7	11	14	3	1	0	1	0	0	0	2	0	2	0	3	3	3	5	3	3	3	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:158390507C>T	ENST00000243349.7	-	9	1765	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	ACVR1C_ENST00000348328.5_Missense_Mutation_p.G312R|ACVR1C_ENST00000335450.7_Missense_Mutation_p.G389R|ACVR1C_ENST00000409680.3_Missense_Mutation_p.G419R	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	469	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CGGGCCGCTCCGTTGGCATAC	0.388													17	109					0	0	0	0	T	158390507	C	T	158390507	3	4	275	1	0	0	0	0	1	0	0	0	222	661	23	1	80	1	ACVR1C	2	158390507	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	29978041	158390507	84808866	36	49249											
TANC1	85461	broad.mit.edu	37	chr2	160086120	160086120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctctggctgacctgcaaGaggctgtgaaactctgtccc	8	9	11	13	0	2	3	0	2	2	1	3	3	3	3	2	2	3	4	2	2	2	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:160086120G>A	ENST00000263635.6	+	27	4420	c.4183G>A	c.(4183-4185)Gag>Aag	p.E1395K	TANC1_ENST00000454300.1_Missense_Mutation_p.E1289K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1395						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGACCTGCAAGAGGCTGTGAA	0.473													9	40					0	0	0	0	A	160086120	G	A	160086120	3	1	275	1	0	0	0	0	1	0	0	0	15635	943	33	2	4286	2	TANC1	2	160086120	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	1695613	160086120	83113253	37	49250											
DCAF17	80067	broad.mit.edu	37	chr2	172314572	172314572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagactctatagcttccaaaCcatcgctgaacaggtagaga	14	8	8	11	1	1	3	0	1	1	2	3	4	2	3	2	1	3	3	2	1	5	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:172314572C>A	ENST00000375255.3	+	7	1046	c.719C>A	c.(718-720)aCc>aAc	p.T240N	DCAF17_ENST00000539783.1_Missense_Mutation_p.T240N|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	240						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						AGCTTCCAAACCATCGCTGAA	0.388													81	231					1.21826e-31	1.39683e-31	1	0	A	172314572	C	A	172314572	3	1	275	1	0	0	0	0	1	0	0	0	4302	507	18	4	745	4	DCAF17	2	172314572	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	12228452	172314572	70884801	38	49251											
TTN	7273	broad.mit.edu	37	chr2	179434801	179434801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatcagacgcttatggcatCttgtccatctaatgccttct	9	14	6	12	1	4	1	1	0	3	1	5	1	5	1	2	1	1	2	2	1	3	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:179434801C>G	ENST00000589042.1	-	326	76282	c.76058G>C	c.(76057-76059)aGa>aCa	p.R25353T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23712T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16413T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16480T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16288T|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22785T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23712	Fibronectin type-III 84.						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)			CTTATGGCATCTTGTCCATCT	0.423													3	141					0	0	0	0	G	179434801	C	G	179434801	3	3	275	1	0	0	0	0	1	0	0	0	16831	913	32	2	32069	2	TTN	2	179434801	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	7120229	179434801	63764572	39	49252											
TTN	7273	broad.mit.edu	37	chr2	179474959	179474959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtttgttctcaccagaCatgactggtatatatgttct	10	15	8	8	0	2	2	1	1	2	1	3	3	2	2	1	1	0	4	1	1	3	6			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:179474959C>T	ENST00000589042.1	-	271	51518	c.51294G>A	c.(51292-51294)atG>atA	p.M17098I	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M15457I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M8158I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M8225I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M8033I|TTN_ENST00000342992.6_Missense_Mutation_p.M14530I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15457	Ig-like 102.						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)			TCTCACCAGACATGACTGGTA	0.443													144	169					0	0	0	0	T	179474959	C	T	179474959	3	4	275	1	0	0	0	0	1	0	0	0	16831	478	17	4	56767	4	TTN	2	179474959	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	40158	179474959	63724414	40	49253											
TTN	7273	broad.mit.edu	37	chr2	179616442	179616442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttaatctctaagctggaaGagtgatggtgtaaatcactc	12	14	9	6	0	2	2	1	1	1	1	4	3	2	3	0	2	1	2	0	2	5	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:179616442G>A	ENST00000360870.5	-	46	10907	c.10685C>T	c.(10684-10686)tCt>tTt	p.S3562F	TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3558	Ig-like 21.						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)			TAAGCTGGAAGAGTGATGGTG	0.423													41	101					0	0	0	0	A	179616442	G	A	179616442	3	1	275	1	0	0	0	0	1	0	0	0	16831	942	33	2	99612	2	TTN	2	179616442	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	141483	179616442	63582931	41	49254											
COL3A1	1281	broad.mit.edu	37	chr2	189864617	189864617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccagggaaagatggccCaagggtgagtattcccagtg	10	8	14	9	0	0	2	0	1	0	1	2	3	2	3	3	3	0	1	3	3	3	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:189864617C>G	ENST00000304636.3	+	32	2449	c.2279C>G	c.(2278-2280)cCa>cGa	p.P760R	COL3A1_ENST00000317840.5_Missense_Mutation_p.P760R	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	760	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAAGATGGCCCAAGGGTGAGT	0.438													3	19					0	0	0	0	G	189864617	C	G	189864617	3	3	275	1	0	0	0	0	1	0	0	0	3718	594	21	4	2405	4	COL3A1	2	189864617	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	10248175	189864617	53334756	42	49255											
PMS1	5378	broad.mit.edu	37	chr2	190660652	190660653	+	Frame_Shift_Ins	INS	-	-	G																															ggttttcgtggagaagccttINSggggtcaatttgttgtatag																										TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:190660652_190660653insG	ENST00000441310.2	+	3	523_524	c.290_291insG	c.(289-291)tggfs	p.W97fs	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409823.3_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000447232.2_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000409985.1_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000374826.4_Frame_Shift_Ins_p.W97fs	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	97					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GGAGAAGCCTTGGGGTCAATTT	0.342			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					35	84	---	---	---	---					G	190660653	-	G	190660652	7	5	275	1	0	1	1	0	0	0	0	0	12214	1821	63	0	296	0	PMS1	2	190660652	Frame_Shift_Ins	INS	-	TCGA-CV-7095-01A-21D-2012-08	796035	190660652	52538721	43	49256											
CASP8	841	broad.mit.edu	37	chr2	202149644	202149644	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatctaccaactcatggAccacagtaacatggactgct	15	8	7	11	0	2	0	1	0	1	0	2	3	2	2	2	2	4	2	2	2	5	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:202149644A>T	ENST00000358485.4	+	8	1281	c.1085A>T	c.(1084-1086)gAc>gTc	p.D362V	CASP8_ENST00000264275.5_Missense_Mutation_p.D320V|CASP8_ENST00000323492.7_Missense_Mutation_p.D288V|CASP8_ENST00000432109.2_Missense_Mutation_p.D303V|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.D219V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	303					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAACTCATGGACCACAGTAAC	0.473										HNSCC(4;0.00038)			81	83					0	0	0	0	T	202149644	A	T	202149644	3	4	275	1	0	0	0	0	1	0	0	0	2702	275	10	5	1215	5	CASP8	2	202149644	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08	11488992	202149644	41049729	44	49257											
MARCH4	57574	broad.mit.edu	37	chr2	217124226	217124226	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgcctgcggtctcctcttCcgaggaggggatattggcct	4	11	15	11	2	2	0	0	0	2	0	4	3	3	2	4	6	2	0	4	6	1	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:217124226C>A	ENST00000273067.4	-	4	2808	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	348						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GTCTCCTCTTCCGAGGAGGGG	0.622													18	27					5.35267e-07	5.86959e-07	1	0	A	217124226	C	A	217124226	4	1	275	1	0	0	0	0	0	1	0	0	9372	864	30	2	194	2	MARCH4	2	217124226	Nonsense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	14974582	217124226	26075147	45	49258											
KCNH8	131096	broad.mit.edu	37	chr3	19295208	19295208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccccatagtctactgttccGatggcttctgcgagcttgct	5	14	9	13	2	2	0	0	0	2	0	4	2	4	0	3	1	4	4	3	1	2	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:19295208G>A	ENST00000328405.2	+	2	405	c.139G>A	c.(139-141)Gat>Aat	p.D47N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	47	PAS.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTACTGTTCCGATGGCTTCTG	0.453													12	103					0	0	0	0	A	19295208	G	A	19295208	3	1	275	1	0	0	0	0	1	0	0	0	8091	1058	37	1	145	1	KCNH8	3	19295208	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08		19295208	178727222	46	49259											
SLC6A20	54716	broad.mit.edu	37	chr3	45804560	45804560	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagttgacaaggcacacCagacctgggggccacaagac	13	3	12	13	0	0	3	0	1	0	2	0	3	0	3	3	3	0	3	3	3	2	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:45804560C>G	ENST00000358525.4	-	9	1423	c.1308G>C	c.(1306-1308)ctG>ctC	p.L436L	SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000456124.2_Silent_p.L436L|SLC6A20_ENST00000353278.4_Silent_p.L399L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	436					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CAAGGCACACCAGACCTGGGG	0.592													13	55					0	0	0	0	G	45804560	C	G	45804560	2	3	275	1	0	0	0	0	0	0	0	1	14772	581	21	4		4	SLC6A20	3	45804560	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	26509352	45804560	152217870	47	49260											
CACNA1D	776	broad.mit.edu	37	chr3	53757958	53757958	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttggcggcaagtttaatTttgatgaaacgcaaaccaag	13	12	10	6	2	0	2	0	2	0	0	0	2	0	2	1	2	2	4	1	2	5	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:53757958T>A	ENST00000288139.3	+	15	2210	c.2092T>A	c.(2092-2094)Ttt>Att	p.F698I	CACNA1D_ENST00000350061.5_Missense_Mutation_p.F678I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.F678I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	678					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAAGTTTAATTTTGATGAAAC	0.463													15	39					0	0	0	0	A	53757958	T	A	53757958	3	1	275	1	0	0	0	0	1	0	0	0	2566	1841	64	5	2258	5	CACNA1D	3	53757958	Missense_Mutation	SNP	T	TCGA-CV-7095-01A-21D-2012-08	7953398	53757958	144264472	48	49261											
PARP14	54625	broad.mit.edu	37	chr3	122420364	122420364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccagatacagctgcccCgccaggtttaccaccagcag	9	6	9	17	1	0	1	0	0	0	1	0	1	0	1	7	1	6	3	7	1	2	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:122420364C>T	ENST00000474629.2	+	6	3229	c.2963C>T	c.(2962-2964)cCg>cTg	p.P988L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	988					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ACAGCTGCCCCGCCAGGTTTA	0.522													4	17					0	0	0	0	T	122420364	C	T	122420364	3	4	275	1	0	0	0	0	1	0	0	0	11529	652	23	1	2985	1	PARP14	3	122420364	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	68662406	122420364	75602066	49	49262											
ROPN1B	152015	broad.mit.edu	37	chr3	125694519	125694519	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgttaaagatcctgcattCtcaggtaagggccctgctgc	8	11	11	11	0	1	1	1	0	1	1	3	1	2	1	2	2	3	5	2	2	3	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:125694519C>G	ENST00000514116.1	+	4	545	c.230C>G	c.(229-231)tCt>tGt	p.S77C	ROPN1B_ENST00000251776.4_Missense_Mutation_p.S77C|ROPN1B_ENST00000511082.1_5'UTR|ROPN1B_ENST00000505382.1_5'UTR			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	77					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		ATCCTGCATTCTCAGGTAAGG	0.567													18	42					0	0	0	0	G	125694519	C	G	125694519	3	3	275	1	0	0	0	0	1	0	0	0	13609	913	32	2	236	2	ROPN1B	3	125694519	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	3274155	125694519	72327911	50	49263											
PLXNA1	5361	broad.mit.edu	37	chr3	126733043	126733043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcacctctacaagtgccCggccctgcgcgagagctgcg	7	5	13	16	5	1	1	0	0	1	1	1	2	1	1	3	1	6	2	3	1	2	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:126733043C>T	ENST00000251772.4	+	11	2429	c.2360C>T	c.(2359-2361)cCg>cTg	p.P787L	PLXNA1_ENST00000393409.2_Missense_Mutation_p.P810L			Q9UIW2	PLXA1_HUMAN	plexin A1	810					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TACAAGTGCCCGGCCCTGCGC	0.736													6	25					0	0	0	0	T	126733043	C	T	126733043	3	4	275	1	0	0	0	0	1	0	0	0	12191	652	23	1	2471	1	PLXNA1	3	126733043	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	1038524	126733043	71289387	51	49264											
ASTE1	28990	broad.mit.edu	37	chr3	130744130	130744130	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatgatcttccacaaaactCattagtcctcggatacccat	12	12	4	13	1	2	1	1	1	1	0	5	2	4	2	3	1	2	0	3	1	5	4	rs139512239		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:130744130C>G	ENST00000264992.3	-	3	462	c.21G>C	c.(19-21)atG>atC	p.M7I	ASTE1_ENST00000514044.1_Missense_Mutation_p.M7I	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	7					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CCACAAAACTCATTAGTCCTC	0.378													22	57					0	0	0	0	G	130744130	C	G	130744130	3	3	275	1	0	0	0	0	1	0	0	0	1066	826	29	2	2034	2	ASTE1	3	130744130	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	4011087	130744130	67278300	52	49265											
GYG1	2992	broad.mit.edu	37	chr3	148712030	148712030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaccaggaggctggtcGtgctcgccacccctcaggtc	6	6	13	16	2	1	0	1	0	0	0	4	2	1	2	5	5	1	2	5	5	0	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:148712030G>A	ENST00000345003.4	+	2	409	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	GYG1_ENST00000484197.1_Missense_Mutation_p.V37M|GYG1_ENST00000483267.1_Missense_Mutation_p.V37M|GYG1_ENST00000296048.6_Missense_Mutation_p.V37M	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	37					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAGGCTGGTCGTGCTCGCCAC	0.587													18	65					0	0	0	0	A	148712030	G	A	148712030	3	1	275	1	0	0	0	0	1	0	0	0	6955	1145	40	1	115	1	GYG1	3	148712030	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	17967900	148712030	49310400	53	49266											
TNIK	23043	broad.mit.edu	37	chr3	170802911	170802911	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccttcttgcttacctgcGgctgatgattcctcatcctc	4	14	8	15	1	2	2	1	2	1	0	5	2	4	2	4	2	3	2	4	2	1	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:170802911G>A	ENST00000436636.2	-	25	3338	c.2994C>T	c.(2992-2994)gcC>gcT	p.A998A	TNIK_ENST00000488470.1_Silent_p.A943A|TNIK_ENST00000475336.1_Silent_p.A906A|TNIK_ENST00000470834.1_Silent_p.A961A|TNIK_ENST00000460047.1_Silent_p.A935A|TNIK_ENST00000369326.5_Silent_p.A976A|TNIK_ENST00000357327.5_Silent_p.A969A|TNIK_ENST00000341852.6_Silent_p.A914A|TNIK_ENST00000284483.8_Silent_p.A990A|TNIK_ENST00000538048.1_Silent_p.A950A	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	998	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.A998A(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCTTACCTGCGGCTGATGATT	0.483													3	8					0	0	0	0	A	170802911	G	A	170802911	2	1	275	1	0	0	0	0	0	0	0	1	16407	1103	39	1		1	TNIK	3	170802911	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	22090881	170802911	27219519	54	49267											
PARL	55486	broad.mit.edu	37	chr3	183551318	183551318	+	Frame_Shift_Del	DEL	A	A	-																															ccaagatgtgccgcatgatcAaaaaatttccatcccaggat																										TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:183551318delA	ENST00000317096.4	-	9	1050	c.990delT	c.(988-990)ttfs	p.F330fs	PARL_ENST00000311101.5_Frame_Shift_Del_p.F280fs|PARL_ENST00000435888.1_Frame_Shift_Del_p.F246fs	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	330					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGCATGATCAAAAAATTTCC	0.473													25	59	---	---	---	---					-	183551318	A	-	183551318	7	5	275	1	0	1	0	1	0	0	0	0	11522	127	5	0	157	0	PARL	3	183551318	Frame_Shift_Del	DEL	A	TCGA-CV-7095-01A-21D-2012-08	12748407	183551318	14471112	55	49268											
ECE2	9718	broad.mit.edu	37	chr3	183994461	183994461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcacctgcccccacctcCgctccatctctggcctctgc	3	9	8	21	1	3	0	1	0	2	0	6	0	5	0	7	2	2	1	7	2	0	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:183994461C>T	ENST00000357474.5	+	2	351	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	ECE2_ENST00000402825.3_Intron|ECE2_ENST00000404464.3_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Intron			O60344	ECE2_HUMAN	endothelin converting enzyme 2	152	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCCCACCTCCGCTCCATCTC	0.617													3	5					0	0	0	0	T	183994461	C	T	183994461	3	4	275	1	0	0	0	0	1	0	0	0	4926	652	23	1	1018	1	ECE2	3	183994461	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	443143	183994461	14027969	56	49269											
IQCG	84223	broad.mit.edu	37	chr3	197670906	197670906	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttttggaggaaggtttgAgtcttccaggctgtctctaa	9	14	11	7	0	2	1	0	1	2	0	4	3	3	3	1	4	1	2	1	4	3	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:197670906A>G	ENST00000265239.6	-	4	449	c.25T>C	c.(25-27)Tca>Cca	p.S9P	IQCG_ENST00000453254.1_Missense_Mutation_p.S9P|IQCG_ENST00000455191.1_Missense_Mutation_p.S9P|IQCG_ENST00000480302.1_5'UTR	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	9										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GGAAGGTTTGAGTCTTCCAGG	0.408													3	161					0	0	0	0	G	197670906	A	G	197670906	3	3	275	1	0	0	0	0	1	0	0	0	7863	304	11	5	1342	5	IQCG	3	197670906	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08	13676445	197670906	351524	57	49270											
DGKQ	1609	broad.mit.edu	37	chr4	959304	959304	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagtagatgtgactcacGgacaccacggtggctgcaaa	12	6	14	9	2	1	2	1	1	0	1	1	5	1	4	1	4	1	3	1	4	2	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:959304G>A	ENST00000273814.3	-	14	1666	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	531					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGTGACTCACGGACACCACGG	0.667													5	18					0	0	0	0	A	959304	G	A	959304	2	1	275	1	0	0	0	0	0	0	0	1	4510	1103	39	1		1	DGKQ	4	959304	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08		959304	190194972	58	49271											
IDUA	3425	broad.mit.edu	37	chr4	995557	995557	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccggcgactccttccacaCcccaccgcgatccccgctga	6	5	7	23	5	0	1	0	1	0	0	3	3	3	1	9	1	0	1	9	1	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:995557C>G	ENST00000453894.1	+	5	627	c.539C>G	c.(538-540)aCc>aGc	p.T180S	IDUA_ENST00000514224.1_Missense_Mutation_p.T95S|IDUA_ENST00000247933.4_Missense_Mutation_p.T227S			P35475	IDUA_HUMAN	iduronidase, alpha-L-	227					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TCCTTCCACACCCCACCGCGA	0.711													3	16					0	0	0	0	G	995557	C	G	995557	3	3	275	1	0	0	0	0	1	0	0	0	7557	507	18	4	702	4	IDUA	4	995557	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	36253	995557	190158719	59	49272											
OTOP1	133060	broad.mit.edu	37	chr4	4199228	4199228	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctctcggtgaatggattCaaagatgaagaggttctgga	12	10	14	5	1	3	4	1	2	2	2	4	6	3	6	0	5	0	2	0	5	3	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:4199228C>G	ENST00000296358.4	-	5	1357	c.1333G>C	c.(1333-1335)Gaa>Caa	p.E445Q		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	445					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGAATGGATTCAAAGATGAAG	0.542													10	62					0	0	0	0	G	4199228	C	G	4199228	3	3	275	1	0	0	0	0	1	0	0	0	11376	835	29	2	513	2	OTOP1	4	4199228	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	3203671	4199228	186955048	60	49273											
EPHA5	2044	broad.mit.edu	37	chr4	66356413	66356413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aacatttgagatggcattccGaggagcagaggggggtcctg	10	8	16	7	1	0	2	0	1	0	2	2	5	2	3	2	5	2	2	2	5	1	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:66356413G>C	ENST00000273854.3	-	5	1684	c.1084C>G	c.(1084-1086)Cgg>Ggg	p.R362G	EPHA5_ENST00000354839.4_Missense_Mutation_p.R362G|EPHA5_ENST00000511294.1_Missense_Mutation_p.R362G|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	362	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATGGCATTCCGAGGAGCAGAG	0.393										TSP Lung(17;0.13)			13	37					0	0	0	0	C	66356413	G	C	66356413	3	2	275	1	0	0	0	0	1	0	0	0	5208	1057	37	3	2085	3	EPHA5	4	66356413	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	62157185	66356413	124797863	61	49274											
SHROOM3	57619	broad.mit.edu	37	chr4	77675521	77675521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccgctcttccaccatctCacccctcgttggggtggttc	3	12	9	17	2	2	0	1	0	2	0	6	0	3	0	5	3	1	3	5	3	0	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:77675521C>T	ENST00000296043.6	+	7	4838	c.3885C>T	c.(3883-3885)ctC>ctT	p.L1295L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1295					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCACCATCTCACCCCTCGTT	0.542													41	133					0	0	0	0	T	77675521	C	T	77675521	2	4	275	1	0	0	0	0	0	0	0	1	14383	813	29	2		2	SHROOM3	4	77675521	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	11319108	77675521	113478755	62	49275											
FRAS1	80144	broad.mit.edu	37	chr4	79403007	79403007	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtactgacctctctactttCgcatctgtctggtgtgcaac	6	14	9	12	1	3	1	0	1	3	0	5	1	3	1	1	2	4	3	1	2	3	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:79403007C>T	ENST00000264895.6	+	57	8933	c.8493C>T	c.(8491-8493)ttC>ttT	p.F2831F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2826	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTCTACTTTCGCATCTGTCT	0.493													63	180					0	0	0	0	T	79403007	C	T	79403007	2	4	275	1	0	0	0	0	0	0	0	1	6089	883	31	1		1	FRAS1	4	79403007	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	1727486	79403007	111751269	63	49276											
C4orf33	132321	broad.mit.edu	37	chr4	130023861	130023861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacagaggagtgatgatGgacattagtgctccattttt	10	13	13	5	0	0	4	0	3	0	1	1	6	1	6	1	3	1	1	1	3	1	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:130023861G>A	ENST00000281146.4	+	2	817	c.96G>A	c.(94-96)atG>atA	p.M32I	C4orf33_ENST00000502887.1_Missense_Mutation_p.M32I|C4orf33_ENST00000425929.1_Missense_Mutation_p.M32I	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	32										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GAGTGATGATGGACATTAGTG	0.438													13	48					0	0	0	0	A	130023861	G	A	130023861	3	1	275	1	0	0	0	0	1	0	0	0	2284	1348	47	4	98	4	C4orf33	4	130023861	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	50620854	130023861	61130415	64	49277											
FBXW7	55294	broad.mit.edu	37	chr4	153332853	153332853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgttcctcctctaccacacGattcatctgttcttcatcta	7	16	3	15	1	6	0	2	0	4	0	8	1	8	0	3	0	1	2	3	0	2	6			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:153332853G>A	ENST00000281708.4	-	2	1332	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	FBXW7_ENST00000603841.1_Missense_Mutation_p.R35C|FBXW7_ENST00000604872.1_Missense_Mutation_p.R35C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R35C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	35					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTACCACACGATTCATCTGT	0.507			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								47	90					0	0	0	0	A	153332853	G	A	153332853	3	1	275	1	0	0	0	0	1	0	0	0	5814	1058	37	1	2480	1	FBXW7	4	153332853	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	23308992	153332853	37821423	65	49278											
FAT1	2195	broad.mit.edu	37	chr4	187539252	187539252	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatcagatgccctgatctGaattactctacttccccctg	9	12	6	14	0	3	3	1	2	2	1	4	3	4	3	3	0	4	1	3	0	3	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:187539252G>A	ENST00000441802.2	-	10	8697	c.8488C>T	c.(8488-8490)Cag>Tag	p.Q2830*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2830	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCCTGATCTGAATTACTCTA	0.438										HNSCC(5;0.00058)			35	72					0	0	0	0	A	187539252	G	A	187539252	4	1	275	1	0	0	0	0	0	1	0	0	5734	1299	45	2	5350	2	FAT1	4	187539252	Nonsense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	34206399	187539252	3615024	66	49279											
IRX1	79192	broad.mit.edu	37	chr5	3600291	3600291	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaccttcctgcacctcCaccaccgcagccgccggtcg	5	6	7	23	4	1	0	1	0	0	0	4	0	3	0	9	1	2	2	9	1	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:3600291C>G	ENST00000302006.3	+	2	1281	c.1229C>G	c.(1228-1230)cCa>cGa	p.P410R	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	410	Poly-Pro.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTGCACCTCCACCACCGCAG	0.701													15	69					0	0	0	0	G	3600291	C	G	3600291	3	3	275	1	0	0	0	0	1	0	0	0	7896	594	21	4	1235	4	IRX1	5	3600291	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08		3600291	177314969	67	49280											
TRIO	7204	broad.mit.edu	37	chr5	14406048	14406048	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagggagccctgaaggAgcccattcacatccctaaga	12	6	10	13	0	1	3	1	2	0	1	2	5	2	5	4	2	2	0	4	2	3	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:14406048A>G	ENST00000344204.4	+	32	4832	c.4808A>G	c.(4807-4809)gAg>gGg	p.E1603G	TRIO_ENST00000537187.1_Missense_Mutation_p.E1603G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1603					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCCTGAAGGAGCCCATTCAC	0.577													10	25					0	0	0	0	G	14406048	A	G	14406048	3	3	275	1	0	0	0	0	1	0	0	0	16647	304	11	5	4934	5	TRIO	5	14406048	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08	10805757	14406048	166509212	68	49281											
ZNF622	90441	broad.mit.edu	37	chr5	16465329	16465329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcctttgcaggcgctGggggcgccttcttgggagac	3	10	16	12	2	1	1	0	0	1	1	2	2	2	1	3	5	1	2	3	5	0	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:16465329G>A	ENST00000308683.2	-	1	572	c.446C>T	c.(445-447)cCa>cTa	p.P149L		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	149						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TGCAGGCGCTGGGGGCGCCTT	0.652													65	92					0	0	0	0	A	16465329	G	A	16465329	3	1	275	1	0	0	0	0	1	0	0	0	18141	1348	47	4	1011	4	ZNF622	5	16465329	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	2059281	16465329	164449931	69	49282											
RANBP3L	202151	broad.mit.edu	37	chr5	36265595	36265595	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactactttgcacaagagctGatgtcataaaaacattgttt	14	13	6	8	0	1	2	1	1	0	1	1	2	1	2	0	0	4	3	0	0	5	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:36265595G>C	ENST00000296604.3	-	5	781	c.296C>G	c.(295-297)tCa>tGa	p.S99*	RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.S124*|RANBP3L_ENST00000515759.1_Nonsense_Mutation_p.S99*	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	99					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CACAAGAGCTGATGTCATAAA	0.299													6	32					0	0	0	0	C	36265595	G	C	36265595	4	2	275	1	0	0	0	0	0	1	0	0	13112	1294	45	2	1141	2	RANBP3L	5	36265595	Nonsense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	19800266	36265595	144649665	70	49283											
NIPBL	25836	broad.mit.edu	37	chr5	37048678	37048678	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatataataatattttatctGataagaactcctcagtcaat	16	16	3	6	0	3	2	2	1	1	1	4	2	4	2	1	0	1	0	1	0	9	8			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:37048678G>C	ENST00000282516.8	+	39	7163	c.6664G>C	c.(6664-6666)Gat>Cat	p.D2222H	NIPBL_ENST00000448238.2_Missense_Mutation_p.D2222H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2222					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TATTTTATCTGATAAGAACTC	0.363													13	37					0	0	0	0	C	37048678	G	C	37048678	3	2	275	1	0	0	0	0	1	0	0	0	10498	1290	45	2	6814	2	NIPBL	5	37048678	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	783083	37048678	143866582	71	49284											
C6	729	broad.mit.edu	37	chr5	41143093	41143093	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggcaataggcagacaCatttggaagtggaggctgta	11	8	17	5	0	0	1	0	0	0	1	0	3	0	3	0	6	0	4	0	6	4	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:41143093C>G	ENST00000263413.3	-	18	2903	c.2639G>C	c.(2638-2640)tGt>tCt	p.C880S	C6_ENST00000337836.5_Missense_Mutation_p.C880S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	880	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAGGCAGACACATTTGGAAGT	0.458													12	53					0	0	0	0	G	41143093	C	G	41143093	3	3	275	1	0	0	0	0	1	0	0	0	2336	478	17	4	169	4	C6	5	41143093	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	4094415	41143093	139772167	72	49285											
ITGA2	3673	broad.mit.edu	37	chr5	52351412	52351412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggcgacgaagtgctaCgaaagtaatggtagttgtaa	12	10	15	4	3	0	0	0	0	0	0	0	3	0	0	0	3	2	5	0	3	6	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:52351412C>T	ENST00000296585.5	+	8	967	c.824C>T	c.(823-825)aCg>aTg	p.T275M		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	275	VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CGAAGTGCTACGAAAGTAATG	0.373													15	58					0	0	0	0	T	52351412	C	T	52351412	3	4	275	1	0	0	0	0	1	0	0	0	7928	536	19	1	854	1	ITGA2	5	52351412	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	11208319	52351412	128563848	73	49286											
SNCAIP	9627	broad.mit.edu	37	chr5	121761101	121761101	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgacgaaaatggaaacaatCtattacatattgcggcgtca	16	9	8	8	4	2	0	1	0	1	0	2	3	2	1	0	2	3	0	0	2	7	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:121761101C>G	ENST00000261367.7	+	7	2626	c.1198C>G	c.(1198-1200)Cta>Gta	p.L400V	SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000504884.2_Missense_Mutation_p.S62C|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L353V|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.L400V			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	353					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGAAACAATCTATTACATAT	0.428													55	54					0	0	0	0	G	121761101	C	G	121761101	3	3	275	1	0	0	0	0	1	0	0	0	14929	912	32	2	1071	2	SNCAIP	5	121761101	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	69409689	121761101	59154159	74	49287											
PCDHB2	56133	broad.mit.edu	37	chr5	140476460	140476460	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtctacctggtggtggcgTtggcctcggtgtcttcgctc	1	13	14	13	4	2	0	0	0	2	0	5	0	2	0	3	5	1	2	3	5	1	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:140476460T>C	ENST00000194155.4	+	1	2234	c.2086T>C	c.(2086-2088)Ttg>Ctg	p.L696L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		696					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGGCGTTGGCCTCGGT	0.697													52	166					0	0	0	0	C	140476460	T	C	140476460	2	2	275	1	0	0	0	0	0	0	0	1	11613	1722	60	5		5	PCDHB2	5	140476460	Silent	SNP	T	TCGA-CV-7095-01A-21D-2012-08	18715359	140476460	40438800	75	49288											
PCDHB3	56132	broad.mit.edu	37	chr5	140482313	140482313	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtctacctggtggtggcaTtggcctcggtgtcttcgctc	2	13	13	13	3	2	0	0	0	2	0	5	0	2	0	3	5	1	2	3	5	1	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:140482313T>C	ENST00000231130.2	+	1	2080	c.2080T>C	c.(2080-2082)Ttg>Ctg	p.L694L		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		694					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGGCATTGGCCTCGGT	0.687													10	67					0	0	0	0	C	140482313	T	C	140482313	2	2	275	1	0	0	0	0	0	0	0	1	11614	1490	52	5		5	PCDHB3	5	140482313	Silent	SNP	T	TCGA-CV-7095-01A-21D-2012-08	5853	140482313	40432947	76	49289											
ZNF300	91975	broad.mit.edu	37	chr5	150276445	150276445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttaaaatggagcacaatgaaCcatcccttgtgactcctttc	12	12	6	11	0	0	2	0	2	0	0	3	3	2	3	3	1	2	1	3	1	4	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:150276445C>T	ENST00000446148.2	-	7	831	c.404G>A	c.(403-405)gGt>gAt	p.G135D	ZNF300_ENST00000418587.2_Missense_Mutation_p.G83D|ZNF300_ENST00000274599.5_Missense_Mutation_p.G119D|ZNF300_ENST00000394226.2_Missense_Mutation_p.G119D|ZNF300_ENST00000427179.1_3'UTR	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACAATGAACCATCCCTTGT	0.413													26	24					0	0	0	0	T	150276445	C	T	150276445	3	4	275	1	0	0	0	0	1	0	0	0	17926	507	18	4	1462	4	ZNF300	5	150276445	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	9794132	150276445	30638815	77	49290											
FLT4	2324	broad.mit.edu	37	chr5	180047255	180047255	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctcctccagaggcacctcCccggggtccatgatgatgga	7	8	12	14	1	0	3	0	2	0	1	4	4	4	4	6	4	1	2	6	4	0	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:180047255C>A	ENST00000261937.6	-	17	2538	c.2460G>T	c.(2458-2460)ggG>ggT	p.G820G	FLT4_ENST00000393347.3_Silent_p.G820G|FLT4_ENST00000502649.1_Silent_p.G820G	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	820					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GAGGCACCTCCCCGGGGTCCA	0.652													49	48					1.86277e-20	2.12888e-20	1	0	A	180047255	C	A	180047255	2	1	275	1	0	0	0	0	0	0	0	1	5989	610	22	4		4	FLT4	5	180047255	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	29770810	180047255	868005	78	49291											
OR14J1	442191	broad.mit.edu	37	chr6	29274980	29274980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgtgggaagagagtcAttcaccaattcttctgtgat	9	14	9	9	0	5	2	2	1	3	1	6	4	5	3	1	1	0	0	1	1	2	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:29274980A>G	ENST00000377160.2	+	1	578	c.514A>G	c.(514-516)Att>Gtt	p.I172V		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GAAGAGAGTCATTCACCAATT	0.478													42	90					0	0	0	0	G	29274980	A	G	29274980	3	3	275	1	0	0	0	0	1	0	0	0	11019	217	8	5	516	5	OR14J1	6	29274980	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08		29274980	141840087	79	49292											
HLA-G	3135	broad.mit.edu	37	chr6	29796372	29796372	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctggggtccgacggacgCctcctccgcgggtatgaaca	7	6	14	14	5	0	1	0	1	0	0	3	4	3	2	5	4	1	1	5	4	2	1	rs141841160		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:29796372C>T	ENST00000428701.1	+	4	574	c.396C>T	c.(394-396)cgC>cgT	p.R132R	HLA-G_ENST00000360323.6_Silent_p.R132R|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376828.2_Silent_p.R137R|HLA-G_ENST00000376815.3_Intron	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	132	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CCGACGGACGCCTCCTCCGCG	0.672													23	83					0	0	0	0	T	29796372	C	T	29796372	2	4	275	1	0	0	0	0	0	0	0	1	7262	726	26	4		4	HLA-G	6	29796372	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	521392	29796372	141318695	80	49293											
TRIM26	7726	broad.mit.edu	37	chr6	30154334	30154334	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgggtccagggtgacgctCactgtggggacaagggaaaa	10	7	17	7	1	1	1	1	1	0	0	2	3	2	3	1	5	0	1	1	5	3	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:30154334C>T	ENST00000454678.2	-	10	1375	c.937_splice	c.e10-1	p.V313_splice	TRIM26_ENST00000453195.1_Splice_Site_p.V313_splice|TRIM26_ENST00000437089.1_Splice_Site_p.V313_splice	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	313	B30.2/SPRY.						DNA binding|zinc ion binding			lung(1)|ovary(2)	3						GGGTGACGCTCACTGTGGGGA	0.468													15	41					0	0	0	0	T	30154334	C	T	30154334	5	4	275	1	0	0	0	0	0	0	1	0	16595	840	29	2	684	2	TRIM26	6	30154334	Splice_Site	SNP	C	TCGA-CV-7095-01A-21D-2012-08	357962	30154334	140960733	81	49294											
AGPAT1	10554	broad.mit.edu	37	chr6	32137994	32137994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtttgaagggcagcatggagCcattgtggtttctcgttccc	6	13	13	9	1	1	1	0	1	1	0	3	2	2	2	2	3	2	5	2	3	1	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:32137994C>G	ENST00000395499.1	-	5	1133	c.554G>C	c.(553-555)gGc>gCc	p.G185A	AGPAT1_ENST00000375104.2_Missense_Mutation_p.G185A|AGPAT1_ENST00000375107.3_Missense_Mutation_p.G185A|AGPAT1_ENST00000412465.2_Missense_Mutation_p.G73A|AGPAT1_ENST00000395497.1_Missense_Mutation_p.G185A|AGPAT1_ENST00000395496.1_Missense_Mutation_p.G185A|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000336984.6_Missense_Mutation_p.G185A|PPT2-EGFL8_ENST00000422437.1_Intron			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	185					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CAGCATGGAGCCATTGTGGTT	0.537													7	12					0	0	0	0	G	32137994	C	G	32137994	3	3	275	1	0	0	0	0	1	0	0	0	386	739	26	4	309	4	AGPAT1	6	32137994	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	1983660	32137994	138977073	82	49295											
TTBK1	84630	broad.mit.edu	37	chr6	43214425	43214425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctagcggccgcccttaaGgacgaaaccaacatgagtgg	11	6	12	12	3	0	1	0	1	0	0	0	3	0	2	4	3	4	0	4	3	4	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:43214425G>A	ENST00000259750.4	+	2	110	c.27G>A	c.(25-27)aaG>aaA	p.K9K		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	9						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCGCCCTTAAGGACGAAACCA	0.672													10	34					0	0	0	0	A	43214425	G	A	43214425	2	1	275	1	0	0	0	0	0	0	0	1	16772	991	35	4		4	TTBK1	6	43214425	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	11076431	43214425	127900642	83	49296											
EYS	346007	broad.mit.edu	37	chr6	66204916	66204916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagtgtgcattccttttaGtctgcagccaaaaagtaact	13	12	7	9	0	1	0	0	0	1	0	2	0	2	0	2	0	5	3	2	0	5	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:66204916G>T	ENST00000503581.1	-	4	925	c.388C>A	c.(388-390)Cta>Ata	p.L130I	EYS_ENST00000370616.2_Missense_Mutation_p.L130I|EYS_ENST00000370618.3_Missense_Mutation_p.L130I|EYS_ENST00000370621.3_Missense_Mutation_p.L130I|EYS_ENST00000342421.5_Missense_Mutation_p.L130I|EYS_ENST00000393380.2_Missense_Mutation_p.L130I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	130					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTCCTTTTAGTCTGCAGCCA	0.393													11	23					6.40141e-05	6.97615e-05	1	0	T	66204916	G	T	66204916	3	4	275	1	0	0	0	0	1	0	0	0	5370	1020	36	4	9168	4	EYS	6	66204916	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	22990491	66204916	104910151	84	49297											
PHIP	55023	broad.mit.edu	37	chr6	79655871	79655871	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgttttaccgtttatctGagcagcattgtgtcttggcg	5	18	10	8	2	3	1	0	1	3	0	3	1	3	1	1	1	3	4	1	1	2	7			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:79655871G>C	ENST00000275034.4	-	38	4644	c.4477C>G	c.(4477-4479)Cag>Gag	p.Q1493E	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1493					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCGTTTATCTGAGCAGCATTG	0.433													7	89					0	0	0	0	C	79655871	G	C	79655871	3	2	275	1	0	0	0	0	1	0	0	0	11914	1299	45	2	1000	2	PHIP	6	79655871	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	13450955	79655871	91459196	85	49298											
LAMA4	3910	broad.mit.edu	37	chr6	112465999	112465999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttttcatcagttaccttGctggcaacacttctggtctg	6	16	8	11	0	5	0	2	0	3	0	5	0	5	0	1	2	3	3	1	2	2	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:112465999G>C	ENST00000230538.7	-	19	2887	c.2490C>G	c.(2488-2490)agC>agG	p.S830R	LAMA4_ENST00000389463.4_Missense_Mutation_p.S823R|LAMA4_ENST00000522006.1_Missense_Mutation_p.S823R|LAMA4_ENST00000424408.2_Missense_Mutation_p.S823R	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	830	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTACCTTGCTGGCAACAC	0.512													21	82					0	0	0	0	C	112465999	G	C	112465999	3	2	275	1	0	0	0	0	1	0	0	0	8661	1310	46	4	3065	4	LAMA4	6	112465999	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	32810128	112465999	58649068	86	49299											
LAMA2	3908	broad.mit.edu	37	chr6	129635848	129635848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgccggcctggcaaattcGgactcgatgccaagaatcca	11	7	11	12	3	0	1	0	0	0	1	3	4	1	2	4	3	2	1	4	3	3	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:129635848G>A	ENST00000421865.2	+	24	3509	c.3460G>A	c.(3460-3462)Gga>Aga	p.G1154R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1154	Laminin EGF-like 13.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGCAAATTCGGACTCGATGC	0.527													9	37					0	0	0	0	A	129635848	G	A	129635848	3	1	275	1	0	0	0	0	1	0	0	0	8659	1117	39	1	3554	1	LAMA2	6	129635848	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	17169849	129635848	41479219	87	49300											
TCF21	6943	broad.mit.edu	37	chr6	134210544	134210544	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcccccaaacatgtccacCggctccctcagcgatgtgga	9	7	8	17	2	1	0	1	0	0	0	4	2	4	1	5	2	2	1	5	2	1	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:134210544C>T	ENST00000367882.4	+	1	269	c.9C>T	c.(7-9)acC>acT	p.T3T	TCF21_ENST00000237316.3_Silent_p.T3T|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	3					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.T3T(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		ACATGTCCACCGGCTCCCTCA	0.522													14	91					0	0	0	0	T	134210544	C	T	134210544	2	4	275	1	0	0	0	0	0	0	0	1	15785	639	23	1		1	TCF21	6	134210544	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	4574696	134210544	36904523	88	49301											
BCLAF1	9774	broad.mit.edu	37	chr6	136582563	136582563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacgttgaaaagtaccaCgacctcttcctcttttggcc	8	12	7	14	2	2	1	0	1	2	0	3	2	3	1	5	1	2	2	5	1	3	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:136582563C>T	ENST00000531224.1	-	12	2849	c.2597G>A	c.(2596-2598)cGt>cAt	p.R866H	BCLAF1_ENST00000353331.4_Missense_Mutation_p.R815H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R817H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R815H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R864H|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R693H|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R84H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	866					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAAAGTACCACGACCTCTTCC	0.408													25	227					0	0	0	0	T	136582563	C	T	136582563	3	4	275	1	0	0	0	0	1	0	0	0	1387	536	19	1	173	1	BCLAF1	6	136582563	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	2372019	136582563	34532504	89	49302											
SHPRH	257218	broad.mit.edu	37	chr6	146245960	146245960	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtattacacttgctcatgTagtgctctcgcagctgtttg	6	16	9	10	1	2	0	1	0	1	0	3	0	2	0	0	0	4	7	0	0	3	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:146245960T>A	ENST00000367503.3	-	17	3742	c.3344A>T	c.(3343-3345)tAc>tTc	p.Y1115F	SHPRH_ENST00000367505.2_Missense_Mutation_p.Y1106F|SHPRH_ENST00000275233.7_Missense_Mutation_p.Y1106F|SHPRH_ENST00000438092.2_Missense_Mutation_p.Y1115F	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1106					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTGCTCATGTAGTGCTCTCG	0.408													23	59					0	0	0	0	A	146245960	T	A	146245960	3	1	275	1	0	0	0	0	1	0	0	0	14379	1638	57	5	1807	5	SHPRH	6	146245960	Missense_Mutation	SNP	T	TCGA-CV-7095-01A-21D-2012-08	9663397	146245960	24869107	90	49303											
SYNE1	23345	broad.mit.edu	37	chr6	152763311	152763311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggtcaggcagccccccttCtccctgctgcgcctgcgcga	3	8	11	19	4	2	0	1	0	1	0	4	1	2	0	5	2	4	2	5	2	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:152763311C>T	ENST00000367255.5	-	31	4508	c.3907G>A	c.(3907-3909)Gaa>Aaa	p.E1303K	SYNE1_ENST00000367248.3_Missense_Mutation_p.E1293K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1303K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1303K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1369K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E1303K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1310K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1303					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCCCCCCTTCTCCCTGCTGC	0.582										HNSCC(10;0.0054)			18	60					0	0	0	0	T	152763311	C	T	152763311	3	4	275	1	0	0	0	0	1	0	0	0	15536	922	32	2	23023	2	SYNE1	6	152763311	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	6517351	152763311	18351756	91	49304											
CYP2W1	54905	broad.mit.edu	37	chr7	1026752	1026752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcctctgcagggggatgacCccgagggcctgtttgctgag	5	8	16	12	2	1	2	0	2	1	0	1	4	1	3	4	3	2	3	4	3	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:1026752C>T	ENST00000340150.6	+	6	683	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	CYP2W1_ENST00000308919.7_Missense_Mutation_p.P277S			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	277					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGGGGATGACCCCGAGGGCCT	0.692													5	7					0	0	0	0	T	1026752	C	T	1026752	3	4	275	1	0	0	0	0	1	0	0	0	4208	623	22	4	851	4	CYP2W1	7	1026752	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08		1026752	158111911	92	49305											
RADIL	55698	broad.mit.edu	37	chr7	4856042	4856042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggaccagctctcacggcGctccgtctggaatggcgggc	6	6	15	14	5	2	0	1	0	2	0	4	3	3	2	2	5	1	2	2	5	1	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:4856042G>A	ENST00000399583.3	-	8	1970	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	RADIL_ENST00000536091.1_Missense_Mutation_p.A541V|RADIL_ENST00000538469.1_Missense_Mutation_p.R355C	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	595	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTCTCACGGCGCTCCGTCTGG	0.677													4	15					0	0	0	0	A	4856042	G	A	4856042	3	1	275	1	0	0	0	0	1	0	0	0	13079	1087	38	1	1476	1	RADIL	7	4856042	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	3829290	4856042	154282621	93	49306											
DNAH11	8701	broad.mit.edu	37	chr7	21646281	21646281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcaaagcaggcagagtTcagagagagattcagacact	15	6	12	8	0	3	4	3	0	0	4	3	6	3	4	0	2	1	4	0	2	1	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:21646281T>C	ENST00000328843.6	+	20	3813	c.3782T>C	c.(3781-3783)tTc>tCc	p.F1261S	DNAH11_ENST00000409508.3_Missense_Mutation_p.F1261S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1261	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGGCAGAGTTCAGAGAGAGA	0.338									Kartagener syndrome				3	10					0	0	0	0	C	21646281	T	C	21646281	3	2	275	1	0	0	0	0	1	0	0	0	4636	1783	62	5	3860	5	DNAH11	7	21646281	Missense_Mutation	SNP	T	TCGA-CV-7095-01A-21D-2012-08	16790239	21646281	137492382	94	49307											
PCLO	27445	broad.mit.edu	37	chr7	82579179	82579179	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagatattgaggactttgTgtgtctgaatctgcttctgt	7	17	10	7	0	4	3	1	2	3	1	4	4	4	4	0	1	1	1	0	1	2	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:82579179T>A	ENST00000423517.2	-	6	11062	c.10725A>T	c.(10723-10725)acA>acT	p.T3575T	PCLO_ENST00000333891.8_Silent_p.T3575T|PCLO_ENST00000437081.1_Silent_p.T295T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3506					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGACTTTGTGTGTCTGAAT	0.438													18	48					0	0	0	0	A	82579179	T	A	82579179	2	1	275	1	0	0	0	0	0	0	0	1	11654	1683	59	5		5	PCLO	7	82579179	Silent	SNP	T	TCGA-CV-7095-01A-21D-2012-08	60932898	82579179	76559484	95	49308											
LMTK2	22853	broad.mit.edu	37	chr7	97832936	97832936	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagaggcgtgcggcccGgacctgagcggcccagcccc	6	2	18	15	4	0	2	0	1	0	1	0	5	0	4	5	6	3	0	5	6	0	0	rs146973469	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:97832936G>A	ENST00000297293.5	+	12	4451	c.4158G>A	c.(4156-4158)ccG>ccA	p.P1386P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1386					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CGTGCGGCCCGGACCTGAGCG	0.597													11	26					0	0	0	0	A	97832936	G	A	97832936	2	1	275	1	0	0	0	0	0	0	0	1	8914	1103	39	1		1	LMTK2	7	97832936	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	15253757	97832936	61305727	96	49309											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97935815	97935815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacttcgtgtacgacgacgGgaaccaacccctcctaccgg	10	6	9	16	5	0	0	0	0	0	0	2	3	1	1	5	2	5	1	5	2	5	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:97935815G>A	ENST00000005260.8	-	11	1392	c.1177C>T	c.(1177-1179)Ccg>Tcg	p.P393S		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	393	SH3.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TACGACGACGGGAACCAACCC	0.572													25	71					0	0	0	0	A	97935815	G	A	97935815	3	1	275	1	0	0	0	0	1	0	0	0	1306	1232	43	4	374	4	BAIAP2L1	7	97935815	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	102879	97935815	61202848	97	49310											
PUS7	54517	broad.mit.edu	37	chr7	105098338	105098338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgtaagtagaagggggtaGagaaaaatccattttcagag	15	8	14	4	1	1	3	1	0	0	3	2	4	2	3	1	3	0	3	1	3	6	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:105098338G>C	ENST00000356362.2	-	16	2099	c.1885C>G	c.(1885-1887)Cta>Gta	p.L629V	PUS7_ENST00000469408.1_Missense_Mutation_p.L629V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	629					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GAAGGGGGTAGAGAAAAATCC	0.473													32	88					0	0	0	0	C	105098338	G	C	105098338	3	2	275	1	0	0	0	0	1	0	0	0	12915	933	33	2	104	2	PUS7	7	105098338	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	7162523	105098338	54040325	98	49311											
COG5	10466	broad.mit.edu	37	chr7	107204296	107204296	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcagccgctccagagcctcGagctccgaggccagctacag	8	5	12	16	3	0	1	0	0	0	1	3	3	2	1	5	1	6	4	5	1	1	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:107204296G>C	ENST00000393603.2	-	1	410	c.139C>G	c.(139-141)Cga>Gga	p.R47G	COG5_ENST00000297135.3_Missense_Mutation_p.R47G|COG5_ENST00000347053.3_Missense_Mutation_p.R47G|DUS4L_ENST00000498786.1_Intron	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	47					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCAGAGCCTCGAGCTCCGAGG	0.667													28	50					0	0	0	0	C	107204296	G	C	107204296	3	2	275	1	0	0	0	0	1	0	0	0	3691	1066	37	3	2535	3	COG5	7	107204296	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	2105958	107204296	51934367	99	49312											
CBLL1	79872	broad.mit.edu	37	chr7	107398754	107398754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttacccgtgcttcacttGaaaatgttcatcctcctatt	8	16	5	12	1	2	1	2	1	0	0	4	1	4	1	3	0	2	3	3	0	4	6			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:107398754G>A	ENST00000440859.2	+	6	1074	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.E202K	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	203					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGCTTCACTTGAAAATGTTCA	0.458													57	125					0	0	0	0	A	107398754	G	A	107398754	3	1	275	1	0	0	0	0	1	0	0	0	2728	1291	45	2	629	2	CBLL1	7	107398754	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	194458	107398754	51739909	100	49313											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432019	117432019	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagctatgcctggtgtttGagcggtgggaggggcagcgt	6	9	20	6	2	0	1	0	1	0	0	0	3	0	3	1	6	4	3	1	6	1	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:117432019G>C	ENST00000160373.3	-	4	1322	c.1231C>G	c.(1231-1233)Caa>Gaa	p.Q411E		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	411	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGTGTTTGAGCGGTGGGA	0.522													34	115					0	0	0	0	C	117432019	G	C	117432019	3	2	275	1	0	0	0	0	1	0	0	0	4077	1299	45	2	3840	2	CTTNBP2	7	117432019	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	10033265	117432019	41706644	101	49314											
TAS2R16	50833	broad.mit.edu	37	chr7	122635216	122635216	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtttcttggtagatgcTccatggtgagtaactgaatt	8	16	11	6	0	1	3	0	2	1	1	2	3	2	3	1	2	3	5	1	2	3	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:122635216T>C	ENST00000249284.2	-	1	538	c.473A>G	c.(472-474)gAg>gGg	p.E158G		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	158					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGTAGATGCTCCATGGTGAG	0.383													13	46					0	0	0	0	C	122635216	T	C	122635216	3	2	275	1	0	0	0	0	1	0	0	0	15660	1551	54	5	406	5	TAS2R16	7	122635216	Missense_Mutation	SNP	T	TCGA-CV-7095-01A-21D-2012-08	5203197	122635216	36503447	102	49315											
OR9A4	130075	broad.mit.edu	37	chr7	141619579	141619579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataaagtcatagaggcccttCgggatggggtgaaacgctgc	11	8	14	8	2	1	2	1	1	0	1	2	3	1	3	1	4	2	1	1	4	4	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:141619579C>T	ENST00000548136.1	+	1	963	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AGAGGCCCTTCGGGATGGGGT	0.423													21	70					0	0	0	0	T	141619579	C	T	141619579	3	4	275	1	0	0	0	0	1	0	0	0	11320	875	31	1	906	1	OR9A4	7	141619579	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	18984363	141619579	17519084	103	49316											
EPHB6	2051	broad.mit.edu	37	chr7	142566409	142566409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaccccaacatcctgcGgctggagggcgtggtcacca	8	5	12	16	2	1	0	1	0	0	0	2	1	2	1	5	4	3	2	5	4	1	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:142566409G>A	ENST00000392957.2	+	15	2985	c.2198G>A	c.(2197-2199)cGg>cAg	p.R733Q	EPHB6_ENST00000411471.2_Missense_Mutation_p.R456Q|EPHB6_ENST00000442129.1_Missense_Mutation_p.R733Q	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	733	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AACATCCTGCGGCTGGAGGGC	0.677													21	36					0	0	0	0	A	142566409	G	A	142566409	3	1	275	1	0	0	0	0	1	0	0	0	5216	1116	39	1	2240	1	EPHB6	7	142566409	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	946830	142566409	16572254	104	49317											
CNTNAP2	26047	broad.mit.edu	37	chr7	147336299	147336299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacagctcgtttacagcGcctccatggaccagataagt	11	9	9	12	2	0	2	0	1	0	1	2	3	1	3	3	1	3	2	3	1	2	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:147336299G>A	ENST00000361727.3	+	13	2515	c.1999G>A	c.(1999-2001)Gcc>Acc	p.A667T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	667	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.A667T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGTTTACAGCGCCTCCATGGA	0.502										HNSCC(39;0.1)			18	49					0	0	0	0	A	147336299	G	A	147336299	3	1	275	1	0	0	0	0	1	0	0	0	3677	1087	38	1	2049	1	CNTNAP2	7	147336299	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	4769890	147336299	11802364	105	49318											
C7orf33	202865	broad.mit.edu	37	chr7	148288041	148288041	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagtggaagttcaaagcctCagccttgaagagtgtccctg	11	9	11	10	0	2	2	2	1	0	1	3	3	3	3	3	1	2	1	3	1	4	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:148288041C>G	ENST00000307003.2	+	1	385	c.24C>G	c.(22-24)ctC>ctG	p.L8L		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	8										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTCAAAGCCTCAGCCTTGAAG	0.537													10	65					0	0	0	0	G	148288041	C	G	148288041	2	3	275	1	0	0	0	0	0	0	0	1	2411	813	29	2		2	C7orf33	7	148288041	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	951742	148288041	10850622	106	49319											
UNC5D	137970	broad.mit.edu	37	chr8	35583721	35583721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagatctgacagtgagccGgacatacagcggacccatct	11	6	11	13	2	2	3	0	2	2	1	2	5	2	5	3	2	3	0	3	2	1	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:35583721G>A	ENST00000287272.2	+	9	1168	c.1148G>A	c.(1147-1149)cGg>cAg	p.R383Q	UNC5D_ENST00000453357.2_Missense_Mutation_p.R447Q|UNC5D_ENST00000404895.2_Missense_Mutation_p.R452Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.R385Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.R28Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.R457Q			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	452					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAGTGAGCCGGACATACAGC	0.488													59	62					0	0	0	0	A	35583721	G	A	35583721	3	1	275	1	0	0	0	0	1	0	0	0	17091	1116	39	1	1393	1	UNC5D	8	35583721	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08		35583721	110780301	107	49320											
KCNU1	157855	broad.mit.edu	37	chr8	36671785	36671785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagaatatatcatattttGagtcaatttacctggtcatg	13	15	6	7	0	3	2	3	1	0	1	3	2	3	2	1	1	1	0	1	1	6	7			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:36671785G>A	ENST00000399881.3	+	8	830	c.793G>A	c.(793-795)Gag>Aag	p.E265K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	265						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATCATATTTTGAGTCAATTTA	0.418													17	18					0	0	0	0	A	36671785	G	A	36671785	3	1	275	1	0	0	0	0	1	0	0	0	8146	1291	45	2	823	2	KCNU1	8	36671785	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	1088064	36671785	109692237	108	49321											
PLEKHA2	59339	broad.mit.edu	37	chr8	38810819	38810819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttctttccaccaggaccGagaaccactgcgcaccatat	10	9	7	15	2	1	1	0	0	1	1	2	3	2	2	5	1	2	2	5	1	2	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:38810819G>T	ENST00000420274.1	+	9	941	c.707G>T	c.(706-708)cGa>cTa	p.R236L	PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000521746.1_Intron	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	236	PH 2.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	p.R236L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			CACCAGGACCGAGAACCACTG	0.463													87	224					2.16659e-41	2.49229e-41	1	0	T	38810819	G	T	38810819	3	4	275	1	0	0	0	0	1	0	0	0	12128	1058	37	3	737	3	PLEKHA2	8	38810819	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	2139034	38810819	107553203	109	49322											
CPA6	57094	broad.mit.edu	37	chr8	68334861	68334861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatccagtgtcacgtagttCgaaagcaaatgcataaggta	15	10	9	7	2	1	0	1	0	0	0	3	1	2	0	1	1	2	5	1	1	6	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:68334861C>T	ENST00000297770.4	-	11	1407	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CPA6_ENST00000297769.4_Missense_Mutation_p.E154K	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	398					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.E398K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TCACGTAGTTCGAAAGCAAAT	0.383													38	94					0	0	0	0	T	68334861	C	T	68334861	3	4	275	1	0	0	0	0	1	0	0	0	3824	893	31	1	125	1	CPA6	8	68334861	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	29524042	68334861	78029161	110	49323											
COL14A1	7373	broad.mit.edu	37	chr8	121290786	121290786	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagatcacaagatgatgtGaacaaaatctccagggagat	17	7	11	6	0	2	5	1	2	1	3	3	7	2	6	1	2	1	0	1	2	5	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:121290786G>C	ENST00000297848.3	+	28	3720	c.3450G>C	c.(3448-3450)gtG>gtC	p.V1150V	COL14A1_ENST00000309791.4_Silent_p.V1150V|COL14A1_ENST00000247781.3_Silent_p.V1055V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1150	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGATGATGTGAACAAAATCT	0.353													18	18					0	0	0	0	C	121290786	G	C	121290786	2	2	275	1	0	0	0	0	0	0	0	1	3701	1277	45	2		2	COL14A1	8	121290786	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	52955925	121290786	25073236	111	49324											
FAM135B	51059	broad.mit.edu	37	chr8	139263255	139263255	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccagccacatccctcAacctagaaggcaagcatgtg	11	6	9	15	0	1	1	1	0	0	1	2	1	2	1	5	1	4	2	5	1	4	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:139263255A>C	ENST00000395297.1	-	6	541	c.371T>G	c.(370-372)tTg>tGg	p.L124W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	124										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACATCCCTCAACCTAGAAGG	0.592										HNSCC(54;0.14)			42	109					0	0	0	0	C	139263255	A	C	139263255	3	2	275	1	0	0	0	0	1	0	0	0	5490	131	5	5	3909	5	FAM135B	8	139263255	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08	17972469	139263255	7100767	112	49325											
PLEC	5339	broad.mit.edu	37	chr8	144998292	144998292	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttgccagcggccgccttCtcgaagctcgccttcagcgc	4	8	11	18	5	2	0	1	0	1	0	4	1	2	0	5	1	4	1	5	1	1	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:144998292C>T	ENST00000322810.4	-	31	6385	c.6216G>A	c.(6214-6216)gaG>gaA	p.E2072E	PLEC_ENST00000345136.3_Silent_p.E1935E|PLEC_ENST00000356346.3_Silent_p.E1921E|PLEC_ENST00000354958.2_Silent_p.E1913E|PLEC_ENST00000527096.1_Silent_p.E1958E|PLEC_ENST00000357649.2_Silent_p.E1939E|PLEC_ENST00000398774.2_Silent_p.E1903E|PLEC_ENST00000354589.3_Silent_p.E1935E|PLEC_ENST00000436759.2_Silent_p.E1962E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2072	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGCCGCCTTCTCGAAGCTCG	0.701													15	28					0	0	0	0	T	144998292	C	T	144998292	2	4	275	1	0	0	0	0	0	0	0	1	12124	912	32	2		2	PLEC	8	144998292	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	5735037	144998292	1365730	113	49326											
GLIS3	169792	broad.mit.edu	37	chr9	3937164	3937164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgagattttcaagccttGaaaaggccttctcgcaacct	10	13	7	11	1	3	2	1	2	2	1	4	3	3	2	3	1	2	1	3	1	4	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:3937164G>A	ENST00000324333.10	-	4	1464	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.S579L	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	424					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTCAAGCCTTGAAAAGGCCTT	0.458													9	69					0	0	0	0	A	3937164	G	A	3937164	3	1	275	1	0	0	0	0	1	0	0	0	6498	1294	45	2	1084	2	GLIS3	9	3937164	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08		3937164	137276267	114	49327											
FREM1	158326	broad.mit.edu	37	chr9	14848678	14848678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttacctgtattccaggataCacggggggcatttgtatctg	8	14	11	8	1	1	0	0	0	1	0	2	1	2	1	2	4	2	3	2	4	4	7			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:14848678C>A	ENST00000380881.4	-	8	2064	c.1249G>T	c.(1249-1251)Gta>Tta	p.V417L	FREM1_ENST00000380880.3_Missense_Mutation_p.V416L|FREM1_ENST00000422223.2_Missense_Mutation_p.V416L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	416					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCCAGGATACACGGGGGGCA	0.423													19	42					1.28384e-07	1.4211e-07	1	0	A	14848678	C	A	14848678	3	1	275	1	0	0	0	0	1	0	0	0	6092	478	17	4	5467	4	FREM1	9	14848678	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	10911514	14848678	126364753	115	49328											
UNC13B	10497	broad.mit.edu	37	chr9	35385812	35385812	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactttcttcagaatgaaggTaagaaatggactggggcttg	12	12	12	5	0	2	3	1	1	1	2	2	4	2	4	0	4	1	2	0	4	5	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:35385812T>C	ENST00000378495.3	+	22	2940		c.e22+2		UNC13B_ENST00000396787.1_Splice_Site|UNC13B_ENST00000378496.4_Splice_Site	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)						excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGAATGAAGGTAAGAAATGGA	0.483													27	97					0	0	0	0	C	35385812	T	C	35385812	5	2	275	1	0	0	0	0	0	0	1	0	17081	1652	57	5	2806	5	UNC13B	9	35385812	Splice_Site	SNP	T	TCGA-CV-7095-01A-21D-2012-08	20537134	35385812	105827619	116	49329											
UNC13B	10497	broad.mit.edu	37	chr9	35403456	35403456	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtggctgccaatgacctCaagtggcagacagcgggtat	9	8	15	9	1	1	2	1	1	0	1	1	2	1	2	2	4	2	3	2	4	3	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:35403456C>T	ENST00000378495.3	+	38	4572	c.4350C>T	c.(4348-4350)ctC>ctT	p.L1450L	UNC13B_ENST00000396787.1_Silent_p.L1481L|UNC13B_ENST00000378496.4_Silent_p.L1469L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1450	C2 3.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAATGACCTCAAGTGGCAGA	0.532													27	47					0	0	0	0	T	35403456	C	T	35403456	2	4	275	1	0	0	0	0	0	0	0	1	17081	813	29	2		2	UNC13B	9	35403456	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	17644	35403456	105809975	117	49330											
RGP1	9827	broad.mit.edu	37	chr9	35750328	35750328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcctcctgactctagtCagccagatgtccagcccgac	7	9	8	17	1	2	2	1	1	1	1	5	3	5	2	6	0	3	0	6	0	1	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:35750328C>A	ENST00000378078.4	+	3	346	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	RGP1_ENST00000456972.2_Missense_Mutation_p.Q109K	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	69										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGACTCTAGTCAGCCAGATGT	0.612													9	31					9.05144e-12	1.01146e-11	1	0	A	35750328	C	A	35750328	3	1	275	1	0	0	0	0	1	0	0	0	13366	827	29	2	339	2	RGP1	9	35750328	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	346872	35750328	105463103	118	49331											
VPS13A	23230	broad.mit.edu	37	chr9	79910535	79910535	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggaatggctgctacTggtgtaaaagaactcgcaca	12	8	12	9	1	0	1	0	0	0	1	1	2	0	2	0	3	4	6	0	3	5	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:79910535T>G	ENST00000360280.3	+	33	3845	c.3585T>G	c.(3583-3585)acT>acG	p.T1195T	VPS13A_ENST00000357409.5_Silent_p.T1195T|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.T1195T|VPS13A_ENST00000376636.3_Silent_p.T1156T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1195					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGCTGCTACTGGTGTAAAAG	0.433													9	50					0	0	0	0	G	79910535	T	G	79910535	2	3	275	1	0	0	0	0	0	0	0	1	17285	1567	55	5		5	VPS13A	9	79910535	Silent	SNP	T	TCGA-CV-7095-01A-21D-2012-08	44160207	79910535	61302896	119	49332											
AGTPBP1	23287	broad.mit.edu	37	chr9	88307677	88307677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattctgaaggctcagcattGatcttctccagttgagccag	9	12	10	10	0	4	3	1	3	3	0	5	4	4	3	2	1	2	3	2	1	1	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:88307677G>C	ENST00000357081.3	-	3	228	c.84C>G	c.(82-84)atC>atG	p.I28M	AGTPBP1_ENST00000337006.4_De_novo_Start_InFrame|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.I80M|AGTPBP1_ENST00000376080.1_De_novo_Start_InFrame|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.I28M|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.I28M|AGTPBP1_ENST00000491784.1_5'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	28					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCTCAGCATTGATCTTCTCCA	0.388													6	25					0	0	0	0	C	88307677	G	C	88307677	3	2	275	1	0	0	0	0	1	0	0	0	400	1280	45	2	3572	2	AGTPBP1	9	88307677	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	8397142	88307677	52905754	120	49333											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899295	112899295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctggacgaggaacatctgGagtcgcacaaaaagtacaag	16	5	12	8	2	1	0	0	0	1	0	2	4	1	3	0	3	3	3	0	3	5	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:112899295G>C	ENST00000374530.3	+	8	1651	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q	AKAP2_ENST00000510514.5_Missense_Mutation_p.E491Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.E349Q|AKAP2_ENST00000259318.7_Missense_Mutation_p.E260Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.E491Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E491Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.E349Q	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		260							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GGAACATCTGGAGTCGCACAA	0.557													11	18					0	0	0	0	C	112899295	G	C	112899295	3	2	275	1	0	0	0	0	1	0	0	0	11481	1175	41	2	1501	2	PALM2-AKAP2	9	112899295	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	24591618	112899295	28314136	121	49334											
SLC31A1	1317	broad.mit.edu	37	chr9	116028637	116028637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagaactgatgattcaagAggctcttatgatcacagctg	12	11	10	8	1	3	5	2	3	1	2	3	5	3	5	0	1	2	3	0	1	4	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:116028637A>G	ENST00000374210.6	+	6	716	c.530A>G	c.(529-531)gAg>gGg	p.E177G	CDC26_ENST00000490408.1_Intron			O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	60						integral to plasma membrane	copper ion transmembrane transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						ATGATTCAAGAGGCTCTTATG	0.473													4	5					0	0	0	0	G	116028637	A	G	116028637	3	3	275	1	0	0	0	0	1	0	0	0	14651	319	11	5		5	SLC31A1	9	116028637	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08	3129342	116028637	25184794	122	49335											
AMBP	259	broad.mit.edu	37	chr9	116823771	116823771	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccgttgcccatgcagccGccgtactggaaagtctcaca	9	9	9	14	3	1	0	1	0	1	0	2	1	1	1	4	1	5	3	4	1	3	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:116823771G>A	ENST00000265132.3	-	8	1048	c.786C>T	c.(784-786)ggC>ggT	p.G262G		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	262	BPTI/Kunitz inhibitor 1.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCATGCAGCCGCCGTACTGGA	0.577													24	86					0	0	0	0	A	116823771	G	A	116823771	2	1	275	1	0	0	0	0	0	0	0	1	564	1074	38	1		1	AMBP	9	116823771	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	795134	116823771	24389660	123	49336											
DFNB31	25861	broad.mit.edu	37	chr9	117266938	117266938	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctccgcctcgctcagcagCgcggtcagcgcttggtgcag	4	7	14	16	6	2	0	2	0	0	0	4	0	3	0	2	2	4	5	2	2	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:117266938C>T	ENST00000362057.3	-	1	312	c.144G>A	c.(142-144)gcG>gcA	p.A48A	DFNB31_ENST00000374057.3_Silent_p.A48A	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	48					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGCTCAGCAGCGCGGTCAGCG	0.746													8	33					0	0	0	0	T	117266938	C	T	117266938	2	4	275	1	0	0	0	0	0	0	0	1	4492	755	27	1		1	DFNB31	9	117266938	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	443167	117266938	23946493	124	49337											
RABGAP1	23637	broad.mit.edu	37	chr9	125861042	125861042	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaggcagaatctgagattAaaaaaaacagttctatcatt	19	10	6	6	0	3	2	1	1	2	2	3	3	3	2	0	1	1	2	0	1	7	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:125861042A>T	ENST00000373647.4	+	23	2916	c.2782A>T	c.(2782-2784)Aaa>Taa	p.K928*	RABGAP1_ENST00000373643.5_Nonsense_Mutation_p.K267*	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	928					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATCTGAGATTAAAAAAAACAG	0.398													10	30					0	0	0	0	T	125861042	A	T	125861042	4	4	275	1	0	0	0	0	0	1	0	0	13046	363	13	5	2868	5	RABGAP1	9	125861042	Nonsense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08	8594104	125861042	15352389	125	49338											
ZNF79	7633	broad.mit.edu	37	chr9	130206706	130206706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattcagcaccagaggattCacactggagagaagccttac	13	8	9	11	0	3	2	3	0	0	2	3	5	3	4	2	2	3	1	2	2	2	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:130206706C>T	ENST00000342483.5	+	5	1133	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	ZNF79_ENST00000543471.1_Missense_Mutation_p.H219Y	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCAGAGGATTCACACTGGAGA	0.537													15	59					0	0	0	0	T	130206706	C	T	130206706	3	4	275	1	0	0	0	0	1	0	0	0	18254	826	29	2	745	2	ZNF79	9	130206706	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	4345664	130206706	11006725	126	49339											
SLC27A4	10999	broad.mit.edu	37	chr9	131115719	131115719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgtggtttcaatagccGcatcctgtccttcgtgtacc	5	13	10	13	2	1	0	1	0	0	0	4	0	3	0	5	2	2	3	5	2	3	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:131115719G>A	ENST00000300456.3	+	9	1340	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	408					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TTCAATAGCCGCATCCTGTCC	0.617													4	91					0	0	0	0	A	131115719	G	A	131115719	3	1	275	1	0	0	0	0	1	0	0	0	14616	1087	38	1	1253	1	SLC27A4	9	131115719	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	909013	131115719	10097712	127	49340											
RALGDS	5900	broad.mit.edu	37	chr9	135984211	135984211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttgacagaaatcctcCgagtactggtccagccaggt	10	8	13	10	1	0	2	0	1	0	1	3	4	3	3	4	4	2	2	4	4	2	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:135984211C>T	ENST00000393160.3	-	5	815	c.462G>A	c.(460-462)tcG>tcA	p.S154S	RALGDS_ENST00000393157.3_Silent_p.S208S|RALGDS_ENST00000542690.1_Silent_p.S280S|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Silent_p.S180S|RALGDS_ENST00000372050.3_Silent_p.S209S|RALGDS_ENST00000372047.3_Silent_p.S197S	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	209	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|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)		AGAAATCCTCCGAGTACTGGT	0.647			T	CIITA	"PMBL, Hodgkin Lymphona, "								5	33					0	0	0	0	T	135984211	C	T	135984211	2	4	275	1	0	0	0	0	0	0	0	1	13098	639	23	1		1	RALGDS	9	135984211	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	4868492	135984211	5229220	128	49341											
PFKP	5214	broad.mit.edu	37	chr10	3178029	3178029	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagaagcaaacggattttGagtaagttggctgggttccc	11	11	13	6	1	0	3	0	2	0	1	1	4	1	4	1	3	2	5	1	3	4	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:3178029G>C	ENST00000381075.2	+	23	2424	c.2201_splice	c.e23+1	p.E734_splice	PFKP_ENST00000381072.1_Splice_Site_p.E160_splice|PFKP_ENST00000381125.4_Splice_Site_p.E742_splice	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	742					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AACGGATTTTGAGTAAGTTGG	0.453													6	23					0	0	0	0	C	3178029	G	C	3178029	5	2	275	1	0	0	0	0	0	0	1	0	11838	1304	45	2	2306	2	PFKP	10	3178029	Splice_Site	SNP	G	TCGA-CV-7095-01A-21D-2012-08		3178029	132356718	129	49342											
YME1L1	10730	broad.mit.edu	37	chr10	27423860	27423860	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtatatttttggttttcatGagtttgtccaaactctcaac	9	18	7	7	0	2	1	2	1	1	0	4	1	3	1	1	2	2	3	1	2	4	7			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:27423860G>A	ENST00000326799.3	-	7	910	c.762C>T	c.(760-762)ctC>ctT	p.L254L	YME1L1_ENST00000375972.3_Silent_p.L164L|YME1L1_ENST00000376016.3_Silent_p.L197L|YME1L1_ENST00000463270.1_5'UTR	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	254					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGTTTTCATGAGTTTGTCCA	0.393													14	37					0	0	0	0	A	27423860	G	A	27423860	2	1	275	1	0	0	0	0	0	0	0	1	17583	1277	45	2		2	YME1L1	10	27423860	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	24245831	27423860	108110887	130	49343											
NRG3	10718	broad.mit.edu	37	chr10	84745207	84745207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattctgactgatgccagacGgtcagaagactacgaactgg	13	8	11	9	2	2	5	1	2	1	3	2	6	2	5	1	2	3	0	1	2	4	2	rs150401464	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:84745207G>T	ENST00000372142.2	+	11	1620	c.1346G>T	c.(1345-1347)cGg>cTg	p.R449L	NRG3_ENST00000537893.1_Missense_Mutation_p.R296L|NRG3_ENST00000545131.1_Missense_Mutation_p.R296L|NRG3_ENST00000556918.1_Missense_Mutation_p.R476L|NRG3_ENST00000372141.2_Missense_Mutation_p.R646L|NRG3_ENST00000404547.1_Missense_Mutation_p.R670L|NRG3_ENST00000404576.2_Missense_Mutation_p.R450L	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	670					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GATGCCAGACGGTCAGAAGAC	0.483													15	29					2.32078e-09	2.57702e-09	1	0	T	84745207	G	T	84745207	3	4	275	1	0	0	0	0	1	0	0	0	10720	1116	39	3	2215	3	NRG3	10	84745207	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	57321347	84745207	50789540	131	49344											
PLCE1	51196	broad.mit.edu	37	chr10	95791019	95791019	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaacttgccaaagatTctctcaatagcgagggagaa	15	7	11	8	1	2	2	1	0	1	2	3	5	2	3	1	2	4	1	1	2	6	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791019T>C	ENST00000260766.3	+	2	850	c.216T>C	c.(214-216)atT>atC	p.I72I	PLCE1_ENST00000371380.2_Silent_p.I72I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	72					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGCCAAAGATTCTCTCAATAG	0.393													14	29					0	0	0	0	C	95791019	T	C	95791019	2	2	275	1	0	0	0	0	0	0	0	1	12106	1771	62	5		5	PLCE1	10	95791019	Silent	SNP	T	TCGA-CV-7095-01A-21D-2012-08	11045812	95791019	39743728	132	49345			1	77		4	4	813	N	T_G	5.998399e-08
PLCE1	51196	broad.mit.edu	37	chr10	95791437	95791437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaacttaattttagacGattgtggaaattgtgtacca	15	13	8	5	1	0	2	0	0	0	2	0	4	0	3	1	1	2	1	1	1	6	6			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791437G>T	ENST00000260766.3	+	2	1268	c.634G>T	c.(634-636)Gat>Tat	p.D212Y	PLCE1_ENST00000371380.2_Missense_Mutation_p.D212Y	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	212					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.D212N(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATTTTAGACGATTGTGGAAA	0.388													16	45					1.62849e-17	1.84913e-17	1	0	T	95791437	G	T	95791437	3	4	275	1	0	0	0	0	1	0	0	0	12106	1058	37	3	636	3	PLCE1	10	95791437	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	418	95791437	39743310	133	49346			1	77		4	4	813	N	T_G	5.998399e-08
PLCE1	51196	broad.mit.edu	37	chr10	95791784	95791784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgatccactttgttagtcagGagattctgtaaaaatgacag	13	12	9	7	1	2	2	1	1	1	1	3	4	3	2	1	1	0	2	1	1	4	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791784G>C	ENST00000260766.3	+	2	1615	c.981G>C	c.(979-981)agG>agC	p.R327S	PLCE1_ENST00000371380.2_Missense_Mutation_p.R327S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	327					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTTAGTCAGGAGATTCTGTA	0.403													13	60					0	0	0	0	C	95791784	G	C	95791784	3	2	275	1	0	0	0	0	1	0	0	0	12106	1165	41	2	983	2	PLCE1	10	95791784	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	347	95791784	39742963	134	49347			1	77		4	4	813	N	T_G	5.998399e-08
PLCE1	51196	broad.mit.edu	37	chr10	95791831	95791831	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	taagaaatctgtgtatactgGaacaagagcaattgtgagaa	17	10	10	4	0	1	3	0	1	1	3	1	5	1	4	0	1	3	2	0	1	8	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791831G>C	ENST00000260766.3	+	2	1662	c.1028G>C	c.(1027-1029)gGa>gCa	p.G343A	PLCE1_ENST00000371380.2_Missense_Mutation_p.G343A	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	343					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTGTATACTGGAACAAGAGCA	0.423													9	39					0	0	0	0	C	95791831	G	C	95791831	3	2	275	1	0	0	0	0	1	0	0	0	12106	1174	41	2	1030	2	PLCE1	10	95791831	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	47	95791831	39742916	135	49348			1	77		4	4	813	N	T_G	5.998399e-08
APBB1	322	broad.mit.edu	37	chr11	6431880	6431880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtcctctggggagccatagGaggggctgccctgggataag	7	8	17	9	0	1	0	0	0	1	0	2	3	2	3	3	6	2	1	3	6	2	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:6431880G>C	ENST00000389906.2	-	2	797	c.698C>G	c.(697-699)tCc>tGc	p.S233C	APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.S233C|APBB1_ENST00000299402.6_Missense_Mutation_p.S233C	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	233					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGAGCCATAGGAGGGGCTGCC	0.592													11	50					0	0	0	0	C	6431880	G	C	6431880	3	2	275	1	0	0	0	0	1	0	0	0	760	1174	41	2	1486	2	APBB1	11	6431880	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08		6431880	128574636	136	49349											
ST5	6764	broad.mit.edu	37	chr11	8736175	8736175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctctcagtgatgctgtttCaatgctggacatagacaact	11	12	8	10	0	2	2	2	1	1	1	3	3	2	3	1	1	3	3	1	1	3	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:8736175C>T	ENST00000534127.1	-	10	2309	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	ST5_ENST00000526099.1_Missense_Mutation_p.E155K|ST5_ENST00000530991.1_Missense_Mutation_p.E114K|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526757.1_Missense_Mutation_p.E222K|ST5_ENST00000530438.1_Missense_Mutation_p.E222K|ST5_ENST00000313726.6_Missense_Mutation_p.E642K|ST5_ENST00000357665.1_Missense_Mutation_p.E642K	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	642					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GATGCTGTTTCAATGCTGGAC	0.468													6	27					0	0	0	0	T	8736175	C	T	8736175	3	4	275	1	0	0	0	0	1	0	0	0	15310	835	29	2	1545	2	ST5	11	8736175	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	2304295	8736175	126270341	137	49350											
ABCC8	6833	broad.mit.edu	37	chr11	17418492	17418492	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcgatgagggcattgaCgtgcttcagcaccggcttca	8	8	15	10	3	2	2	2	2	0	0	2	3	2	2	1	4	2	4	1	4	0	3	rs138642224	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:17418492C>G	ENST00000302539.4	-	33	4218	c.4093G>C	c.(4093-4095)Gtc>Ctc	p.V1365L	ABCC8_ENST00000389817.3_Missense_Mutation_p.V1364L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1364	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGGCATTGACGTGCTTCAGC	0.612													11	46					0	0	0	0	G	17418492	C	G	17418492	3	3	275	1	0	0	0	0	1	0	0	0	58	536	19	3	683	3	ABCC8	11	17418492	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	8682317	17418492	117588024	138	49351											
LDHC	3948	broad.mit.edu	37	chr11	18456337	18456337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagtggcttacctgtaactCgtgtaattggaagtggttgt	9	15	12	5	1	0	0	0	0	0	0	1	1	0	1	1	3	2	4	1	3	5	6			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:18456337C>T	ENST00000541669.1	+	5	580	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	LDHC_ENST00000546146.1_Missense_Mutation_p.R99C|LDHC_ENST00000280704.4_Missense_Mutation_p.R157C|LDHC_ENST00000544105.1_Missense_Mutation_p.R157C|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.R143C|LDHC_ENST00000535809.1_Missense_Mutation_p.R157C			P07864	LDHC_HUMAN	lactate dehydrogenase C	157					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	ACCTGTAACTCGTGTAATTGG	0.368													40	75					0	0	0	0	T	18456337	C	T	18456337	3	4	275	1	0	0	0	0	1	0	0	0	8755	884	31	1	483	1	LDHC	11	18456337	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	1037845	18456337	116550179	139	49352											
BDNF	627	broad.mit.edu	37	chr11	27679532	27679532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctatgcccctgcagccttCttttgtgtaacccatgggat	6	14	9	12	0	2	0	0	0	2	0	2	1	2	1	4	1	4	2	4	1	2	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:27679532C>T	ENST00000525528.1	-	1	1673	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	BDNF_ENST00000418212.1_Missense_Mutation_p.E194K|BDNF_ENST00000395981.3_Missense_Mutation_p.E194K|BDNF_ENST00000420794.1_Missense_Mutation_p.E194K|BDNF_ENST00000395986.2_Missense_Mutation_p.E209K|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395980.2_Missense_Mutation_p.E194K|BDNF_ENST00000533131.1_Missense_Mutation_p.E194K|BDNF_ENST00000395983.3_Missense_Mutation_p.E194K|BDNF_ENST00000533246.1_Missense_Mutation_p.E194K|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.E202K|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.E194K|BDNF_ENST00000395978.3_Missense_Mutation_p.E194K|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000356660.4_Missense_Mutation_p.E194K|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.E194K|BDNF_ENST00000532997.1_Missense_Mutation_p.E194K|BDNF_ENST00000438929.1_Missense_Mutation_p.E276K|BDNF-AS_ENST00000502161.2_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	194						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						CTGCAGCCTTCTTTTGTGTAA	0.512													38	108					0	0	0	0	T	27679532	C	T	27679532	3	4	275	1	0	0	0	0	1	0	0	0	1398	922	32	2	167	2	BDNF	11	27679532	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	9223195	27679532	107326984	140	49353											
ELP4	26610	broad.mit.edu	37	chr11	31531473	31531473	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcggccctcgactggtgTccattgcgggcacgcgaccg	6	6	14	15	6	0	0	0	0	0	0	2	2	1	0	3	3	2	1	3	3	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:31531473T>C	ENST00000395934.2	+	1	149	c.142T>C	c.(142-144)Tcc>Ccc	p.S48P	ELP4_ENST00000350638.5_Missense_Mutation_p.S48P|ELP4_ENST00000379163.5_Missense_Mutation_p.S48P			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	48					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TCGACTGGTGTCCATTGCGGG	0.627													27	59					0	0	0	0	C	31531473	T	C	31531473	3	2	275	1	0	0	0	0	1	0	0	0	5120	1667	58	5	144	5	ELP4	11	31531473	Missense_Mutation	SNP	T	TCGA-CV-7095-01A-21D-2012-08	3851941	31531473	103475043	141	49354											
PRR5L	79899	broad.mit.edu	37	chr11	36472865	36472865	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcggggaccgtagcttctCaggccccacgtacacgctgg	7	6	13	15	4	1	0	1	0	1	0	2	1	1	1	3	4	3	4	3	4	2	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:36472865C>G	ENST00000378867.3	+	9	1047	c.692C>G	c.(691-693)tCa>tGa	p.S231*	PRR5L_ENST00000311599.5_Nonsense_Mutation_p.S158*|PRR5L_ENST00000530639.1_Nonsense_Mutation_p.S231*|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000527487.1_Intron	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	231										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CGTAGCTTCTCAGGCCCCACG	0.537													13	37					0	0	0	0	G	36472865	C	G	36472865	4	3	275	1	0	0	0	0	0	1	0	0	12681	838	29	2	724	2	PRR5L	11	36472865	Nonsense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	4941392	36472865	98533651	142	49355											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45926322	45926322	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aacccgccctccagctgtgtCctggagatcagcgtgcgggg	6	7	14	14	3	1	1	1	0	0	1	3	2	3	1	4	3	4	1	4	3	1	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:45926322C>G	ENST00000395629.2	+	9	2130	c.1800C>G	c.(1798-1800)gtC>gtG	p.V600V	MAPK8IP1_ENST00000241014.2_Silent_p.V610V			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	610	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CCAGCTGTGTCCTGGAGATCA	0.607													28	86					0	0	0	0	G	45926322	C	G	45926322	2	3	275	1	0	0	0	0	0	0	0	1	9353	842	30	2		2	MAPK8IP1	11	45926322	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	9453457	45926322	89080194	143	49356											
FOLH1	2346	broad.mit.edu	37	chr11	49229949	49229949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccgagtcggtttcgtgaaGgagattccacatctcggcgc	8	9	13	11	5	1	2	0	1	1	1	5	4	2	2	2	3	1	1	2	3	1	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:49229949G>A	ENST00000256999.2	-	1	273	c.13C>T	c.(13-15)Ctt>Ttt	p.L5F	FOLH1_ENST00000356696.3_Missense_Mutation_p.L5F|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	5					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTTTCGTGAAGGAGATTCCAC	0.701													3	9					0	0	0	0	A	49229949	G	A	49229949	3	1	275	1	0	0	0	0	1	0	0	0	6024	1000	35	4	2315	4	FOLH1	11	49229949	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	3303627	49229949	85776567	144	49357											
TCN1	6947	broad.mit.edu	37	chr11	59631479	59631479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacaacacaacattgacagCgctggttcccctgttatagt	11	10	9	11	1	0	1	0	1	0	0	1	2	1	2	2	2	3	3	2	2	4	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:59631479C>T	ENST00000257264.3	-	2	264	c.160G>A	c.(160-162)Gct>Act	p.A54T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	54					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACATTGACAGCGCTGGTTCCC	0.418													45	150					0	0	0	0	T	59631479	C	T	59631479	3	4	275	1	0	0	0	0	1	0	0	0	15800	768	27	1	1173	1	TCN1	11	59631479	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	10401530	59631479	75375037	145	49358											
CPSF7	79869	broad.mit.edu	37	chr11	61188974	61188974	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatggctcctggcgaacaGgaggaggtggttcagtgctg	8	8	18	7	1	1	1	1	0	0	1	2	5	2	3	1	6	2	3	1	6	1	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:61188974G>C	ENST00000340437.4	-	3	370	c.290C>G	c.(289-291)cCt>cGt	p.P97R	CPSF7_ENST00000448745.1_Missense_Mutation_p.P54R|CPSF7_ENST00000439958.3_Missense_Mutation_p.P54R|CPSF7_ENST00000394888.4_Missense_Mutation_p.P54R|CPSF7_ENST00000541963.1_Missense_Mutation_p.P54R	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	54	RRM.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CTGGCGAACAGGAGGAGGTGG	0.522													19	79					0	0	0	0	C	61188974	G	C	61188974	3	2	275	1	0	0	0	0	1	0	0	0	3860	1000	35	4	1282	4	CPSF7	11	61188974	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	1557495	61188974	73817542	146	49359											
PYGM	5837	broad.mit.edu	37	chr11	64525340	64525340	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaactcgggccgggccttctCccaggggttgccgtagcgaa	6	7	15	13	4	1	0	0	0	1	0	3	2	1	0	4	4	3	2	4	4	3	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:64525340C>G	ENST00000164139.3	-	5	969	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	PYGM_ENST00000377432.3_Missense_Mutation_p.E103Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	191					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CGGGCCTTCTCCCAGGGGTTG	0.607													18	25					0	0	0	0	G	64525340	C	G	64525340	3	3	275	1	0	0	0	0	1	0	0	0	12944	864	30	2	2021	2	PYGM	11	64525340	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	3336366	64525340	70481176	147	49360											
SPTBN2	6712	broad.mit.edu	37	chr11	66488701	66488701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtctgtgggtgacagcGtgctgctcatggtggtaggc	7	10	16	8	1	2	1	1	1	1	0	2	1	2	1	0	4	3	3	0	4	2	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:66488701G>A	ENST00000533211.1	-	3	342	c.11C>T	c.(10-12)aCg>aTg	p.T4M	SPTBN2_ENST00000529997.1_Missense_Mutation_p.T4M|SPTBN2_ENST00000309996.2_Missense_Mutation_p.T4M			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	4	Actin-binding.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGGTGACAGCGTGCTGCTCAT	0.602													20	125					0	0	0	0	A	66488701	G	A	66488701	3	1	275	1	0	0	0	0	1	0	0	0	15210	1145	40	1	7305	1	SPTBN2	11	66488701	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	1963361	66488701	68517815	148	49361											
SSH3	54961	broad.mit.edu	37	chr11	67077772	67077772	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcttctggagccctccttgGagctggagagcacctcagag	7	9	13	12	0	3	2	1	0	2	2	4	5	4	4	3	3	3	2	3	3	0	2	rs148598265		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:67077772G>T	ENST00000308127.4	+	13	1823	c.1645G>T	c.(1645-1647)Gag>Tag	p.E549*	SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	549					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCCTCCTTGGAGCTGGAGAG	0.632													13	188					4.3838e-07	4.82218e-07	1	0	T	67077772	G	T	67077772	4	4	275	1	0	0	0	0	0	1	0	0	15276	1175	41	2	1695	2	SSH3	11	67077772	Nonsense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	589071	67077772	67928744	149	49362											
PITPNM1	9600	broad.mit.edu	37	chr11	67267280	67267280	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctccttggggaagaccTcctcactgtccgagaagcct	8	10	9	14	1	3	2	2	0	1	2	6	4	5	3	5	2	1	0	5	2	2	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:67267280T>C	ENST00000356404.3	-	8	1310	c.1085A>G	c.(1084-1086)gAg>gGg	p.E362G	PITPNM1_ENST00000436757.2_Missense_Mutation_p.E362G|PITPNM1_ENST00000534749.1_Missense_Mutation_p.E362G	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	362					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGGAAGACCTCCTCACTGTC	0.592													10	121					0	0	0	0	C	67267280	T	C	67267280	3	2	275	1	0	0	0	0	1	0	0	0	12022	1551	54	5	2717	5	PITPNM1	11	67267280	Missense_Mutation	SNP	T	TCGA-CV-7095-01A-21D-2012-08	189508	67267280	67739236	150	49363											
TCIRG1	10312	broad.mit.edu	37	chr11	67816564	67816564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcactttggccagaggCaccggctgctgctggagacg	7	6	15	13	2	0	2	0	0	0	2	0	3	0	2	3	5	2	5	3	5	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:67816564C>T	ENST00000265686.3	+	15	1798	c.1690C>T	c.(1690-1692)Cac>Tac	p.H564Y	TCIRG1_ENST00000532635.1_Missense_Mutation_p.H348Y	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	564					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGGCCAGAGGCACCGGCTGCT	0.657													23	238					0	0	0	0	T	67816564	C	T	67816564	3	4	275	1	0	0	0	0	1	0	0	0	15797	710	25	4	1744	4	TCIRG1	11	67816564	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	549284	67816564	67189952	151	49364											
NCAPD3	23310	broad.mit.edu	37	chr11	134072795	134072795	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtctgcctttggtaggAaaaagctttaaaaaaaaaat	18	11	8	4	0	1	1	0	0	1	1	1	2	1	2	1	2	2	2	1	2	8	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:134072795A>G	ENST00000534548.2	-	13	1595	c.1531T>C	c.(1531-1533)Tcc>Ccc	p.S511P		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	511					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTTTGGTAGGAAAAAGCTTTA	0.348													16	16					0	0	0	0	G	134072795	A	G	134072795	3	3	275	1	0	0	0	0	1	0	0	0	10276	246	9	5	3057	5	NCAPD3	11	134072795	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08	66256231	134072795	933721	152	49365											
GDF3	9573	broad.mit.edu	37	chr12	7842822	7842822	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggacagggatggctgctctCcttttccgagaagggtggca	7	9	16	9	1	1	1	0	0	1	1	3	4	2	3	2	5	1	3	2	5	1	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:7842822C>G	ENST00000329913.3	-	2	794	c.747G>C	c.(745-747)agG>agC	p.R249S		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	249					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGCTGCTCTCCTTTTCCGAG	0.537													20	59					0	0	0	0	G	7842822	C	G	7842822	3	3	275	1	0	0	0	0	1	0	0	0	6366	854	30	2	351	2	GDF3	12	7842822	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08		7842822	126009073	153	49366											
SLC2A14	144195	broad.mit.edu	37	chr12	7980270	7980270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctgggtgccccacaaccGctggaggactggtgaaaaga	11	6	13	11	1	0	2	0	1	0	1	1	4	1	4	4	4	2	1	4	4	3	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:7980270G>A	ENST00000543909.1	-	12	1513	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	SLC2A14_ENST00000431042.2_Missense_Mutation_p.R229W|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R229W|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R252W|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R267W|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R143W			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	252					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CCCCACAACCGCTGGAGGACT	0.507													7	46					0	0	0	0	A	7980270	G	A	7980270	3	1	275	1	0	0	0	0	1	0	0	0	14631	1086	38	1	828	1	SLC2A14	12	7980270	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	137448	7980270	125871625	154	49367											
SLC2A3	6515	broad.mit.edu	37	chr12	8082459	8082459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctgggtgccccacaaccGctggaggactggtgaaaaga	11	6	13	11	1	0	2	0	1	0	1	1	4	1	4	4	4	2	1	4	4	3	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:8082459G>A	ENST00000075120.7	-	6	922	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	228					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CCCCACAACCGCTGGAGGACT	0.498													12	89					0	0	0	0	A	8082459	G	A	8082459	3	1	275	1	0	0	0	0	1	0	0	0	14633	1086	38	1	828	1	SLC2A3	12	8082459	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	102189	8082459	125769436	155	49368											
TAS2R20	259295	broad.mit.edu	37	chr12	11150362	11150362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctgaggagatcttttgtCtcttgacccaggcaatgaaa	11	11	10	9	0	2	4	0	3	2	1	3	5	2	4	1	2	1	2	1	2	2	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:11150362C>T	ENST00000538986.1	-	1	112	c.113G>A	c.(112-114)aGa>aAa	p.R38K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	38					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GATCTTTTGTCTCTTGACCCA	0.378													23	46					0	0	0	0	T	11150362	C	T	11150362	3	4	275	1	0	0	0	0	1	0	0	0	15662	913	32	2	820	2	TAS2R20	12	11150362	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	3067903	11150362	122701533	156	49369											
TAS2R31	259290	broad.mit.edu	37	chr12	11183044	11183044	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcctttcacccagtacctCacttgccgcaaaactgaaag	11	10	5	15	1	3	1	2	1	1	0	4	1	3	1	4	0	3	2	4	0	4	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:11183044C>G	ENST00000390675.2	-	1	962	c.891G>C	c.(889-891)gtG>gtC	p.V297V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	297					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						CCCAGTACCTCACTTGCCGCA	0.428													48	182					0	0	0	0	G	11183044	C	G	11183044	2	3	275	1	0	0	0	0	0	0	0	1	15665	813	29	2		2	TAS2R31	12	11183044	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	32682	11183044	122668851	157	49370											
PLCZ1	89869	broad.mit.edu	37	chr12	18889205	18889205	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaccgaatatctaatttttCaagtaacctctgagtttttt	11	17	5	8	1	3	1	1	1	2	0	3	2	3	1	2	0	1	3	2	0	5	8			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:18889205C>G	ENST00000447925.2	-	3	348	c.79G>C	c.(79-81)Gaa>Caa	p.E27Q	PLCZ1_ENST00000435379.1_Missense_Mutation_p.E27Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.E29Q|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E29Q	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	29					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCTAATTTTTCAAGTAACCTC	0.353													8	26					0	0	0	0	G	18889205	C	G	18889205	3	3	275	1	0	0	0	0	1	0	0	0	12116	835	29	2	1793	2	PLCZ1	12	18889205	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	7706161	18889205	114962690	158	49371											
SENP1	29843	broad.mit.edu	37	chr12	48477537	48477537	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttcccgcaaaactgtttGataatccactaaaaaaagag	17	10	5	9	1	0	2	0	1	0	1	2	2	2	2	2	0	1	2	2	0	7	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:48477537G>C	ENST00000004980.5	-	6	867	c.389C>G	c.(388-390)tCa>tGa	p.S130*	SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000549518.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000551330.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.S130*			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	130	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AAAACTGTTTGATAATCCACT	0.313													10	37					0	0	0	0	C	48477537	G	C	48477537	4	2	275	1	0	0	0	0	0	1	0	0	14133	1294	45	2	1594	2	SENP1	12	48477537	Nonsense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	29588332	48477537	85374358	159	49372											
PPP1R1A	5502	broad.mit.edu	37	chr12	54975892	54975892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctgctgttgccccaggtGatgttcaaccatcatctgga	7	13	10	11	0	3	1	2	1	1	0	3	2	3	2	3	2	4	4	3	2	1	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:54975892G>A	ENST00000257905.8	-	5	441	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	PPP1R1A_ENST00000547431.1_Intron	NM_006741.3	NP_006732.3	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	91					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						TGCCCCAGGTGATGTTCAACC	0.592													12	27					0	0	0	0	A	54975892	G	A	54975892	3	1	275	1	0	0	0	0	1	0	0	0	12443	1290	45	2	256	2	PPP1R1A	12	54975892	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	6498355	54975892	78876003	160	49373											
LRP1	4035	broad.mit.edu	37	chr12	57538855	57538855	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggatacctcctgcagccGgataaccgctcctgcaaggc	10	6	11	14	2	0	0	0	0	0	0	2	3	2	2	5	3	5	3	5	3	4	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:57538855G>A	ENST00000243077.3	+	5	1015	c.549G>A	c.(547-549)ccG>ccA	p.P183P	LRP1_ENST00000553277.1_Silent_p.P183P|LRP1_ENST00000554174.1_Silent_p.P183P|LRP1_ENST00000338962.4_Silent_p.P183P|RP11-545N8.3_ENST00000555461.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	183	EGF-like 2; calcium-binding (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCTGCAGCCGGATAACCGCT	0.572													17	31					0	0	0	0	A	57538855	G	A	57538855	2	1	275	1	0	0	0	0	0	0	0	1	9015	1103	39	1		1	LRP1	12	57538855	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	2562963	57538855	76313040	161	49374											
CDK4	1019	broad.mit.edu	37	chr12	58145367	58145369	+	In_Frame_Del	DEL	CCT	CCT	-																															tgatgggaaggcctcctccaCctcctcctccattggggact																										TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:58145367_58145369delCCT	ENST00000257904.6	-	2	497_499	c.132_134delAGG	c.(130-135)ggt>gg	p.GG46del	CDK4_ENST00000312990.6_In_Frame_Del_p.GG46del|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000549606.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	46	Poly-Gly.|Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GCCTCCTCCACCTCCTCCTCCAT	0.567			Mis			melanoma			Hereditary Melanoma				20	68	---	---	---	---					-	58145369	CCT	-	58145367	7	5	275	1	0	1	0	1	0	0	0	0	3170	507	18	0	805	0	CDK4	12	58145367	In_Frame_Del	DEL	CCT	TCGA-CV-7095-01A-21D-2012-08	606512	58145367	75706528	162	49375											
GRIP1	23426	broad.mit.edu	37	chr12	66990676	66990676	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctccatcaggcggctttgtCtggctggcggatttagtgta	5	13	14	9	2	2	0	1	0	1	0	3	1	3	1	1	5	0	4	1	5	2	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:66990676C>T	ENST00000359742.4	-	2	327	c.87G>A	c.(85-87)caG>caA	p.Q29Q	GRIP1_ENST00000398016.3_Silent_p.Q29Q|GRIP1_ENST00000286445.7_Silent_p.Q29Q			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	29					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCGGCTTTGTCTGGCTGGCGG	0.448													19	62					0	0	0	0	T	66990676	C	T	66990676	2	4	275	1	0	0	0	0	0	0	0	1	6837	912	32	2		2	GRIP1	12	66990676	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	8845309	66990676	66861219	163	49376											
TMCC3	57458	broad.mit.edu	37	chr12	94975422	94975422	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttcctcttgcagggtcTgagaaataaaaccatattct	12	14	6	9	0	4	1	0	1	4	1	5	2	5	1	2	1	2	1	2	1	4	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:94975422T>A	ENST00000261226.4	-	2	1102	c.971A>T	c.(970-972)cAg>cTg	p.Q324L	TMCC3_ENST00000551457.1_Missense_Mutation_p.Q293L	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	324						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTGCAGGGTCTGAGAAATAAA	0.353													15	50					0	0	0	0	A	94975422	T	A	94975422	3	1	275	1	0	0	0	0	1	0	0	0	16088	1580	55	5	474	5	TMCC3	12	94975422	Missense_Mutation	SNP	T	TCGA-CV-7095-01A-21D-2012-08	27984746	94975422	38876473	164	49377											
ANO4	121601	broad.mit.edu	37	chr12	101504254	101504254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttctggccttactgaataAcataattgaaattcgacttg	13	14	6	8	1	1	2	0	2	1	0	2	3	1	2	1	1	2	0	1	1	5	7			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:101504254A>G	ENST00000392979.3	+	22	2478	c.2117A>G	c.(2116-2118)aAc>aGc	p.N706S	ANO4_ENST00000392977.3_Missense_Mutation_p.N741S|ANO4_ENST00000550015.1_Missense_Mutation_p.N261S|ANO4_ENST00000299222.9_Missense_Mutation_p.N261S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	741						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTACTGAATAACATAATTGAA	0.398										HNSCC(74;0.22)			3	73					0	0	0	0	G	101504254	A	G	101504254	3	3	275	1	0	0	0	0	1	0	0	0	698	43	2	5	2199	5	ANO4	12	101504254	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08	6528832	101504254	32347641	165	49378											
ACACB	32	broad.mit.edu	37	chr12	109673414	109673414	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggatttctttttgcagaaaGaatttcccaagtttttcaca	11	17	6	7	0	2	2	1	0	1	2	3	3	3	3	1	1	1	2	1	1	3	6			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:109673414G>C	ENST00000338432.7	+	33	4527	c.4408G>C	c.(4408-4410)Gaa>Caa	p.E1470Q	ACACB_ENST00000543201.1_Missense_Mutation_p.E136Q|ACACB_ENST00000377848.3_Missense_Mutation_p.E1470Q|ACACB_ENST00000377854.5_Missense_Mutation_p.E1400Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1470					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTTGCAGAAAGAATTTCCCAA	0.328													12	20					0	0	0	0	C	109673414	G	C	109673414	3	2	275	1	0	0	0	0	1	0	0	0	107	943	33	2	4534	2	ACACB	12	109673414	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	8169160	109673414	24178481	166	49379											
DTX1	1840	broad.mit.edu	37	chr12	113496163	113496163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacgtgctgaaggaggacGctcgcggttccgtggtcctg	7	8	16	10	5	0	2	0	1	0	1	3	4	2	4	2	4	2	3	2	4	2	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:113496163G>A	ENST00000257600.3	+	1	669	c.166G>A	c.(166-168)Gct>Act	p.A56T		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	56	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAGGAGGACGCTCGCGGTTC	0.647													35	89					0	0	0	0	A	113496163	G	A	113496163	3	1	275	1	0	0	0	0	1	0	0	0	4829	1087	38	1	168	1	DTX1	12	113496163	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	3822749	113496163	20355732	167	49380											
MAP1LC3B2	643246	broad.mit.edu	37	chr12	117013807	117013807	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaacaaagagtagaagatgtCcgacttattcgagagcagca	16	7	11	7	2	0	4	0	0	0	4	2	7	1	4	1	0	3	3	1	0	5	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:117013807C>G	ENST00000306985.4	+	2	214	c.60C>G	c.(58-60)gtC>gtG	p.V20V	MAP1LC3B2_ENST00000556529.1_Silent_p.V20V	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	20					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						TAGAAGATGTCCGACTTATTC	0.537													17	96					0	0	0	0	G	117013807	C	G	117013807	2	3	275	1	0	0	0	0	0	0	0	1	9301	842	30	2		2	MAP1LC3B2	12	117013807	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	3517644	117013807	16838088	168	49381											
DNAH10	196385	broad.mit.edu	37	chr12	124333280	124333280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtctttcttcctaggccGtggggaagattttctctggc	5	15	11	10	1	3	1	0	0	3	1	5	2	4	2	2	4	0	0	2	4	2	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:124333280G>A	ENST00000409039.3	+	33	5624	c.5599G>A	c.(5599-5601)Gtg>Atg	p.V1867M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1867	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCCTAGGCCGTGGGGAAGAT	0.443													4	25					0	0	0	0	A	124333280	G	A	124333280	3	1	275	1	0	0	0	0	1	0	0	0	4635	1145	40	1	5729	1	DNAH10	12	124333280	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	7319473	124333280	9518615	169	49382											
SACS	26278	broad.mit.edu	37	chr13	23913048	23913048	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtactactaacttcactcActtttgcttcctgttgagtt	8	17	5	11	1	2	1	2	1	0	0	3	1	3	1	1	0	4	4	1	0	3	9			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr13:23913048A>C	ENST00000382298.3	-	10	5555	c.4967T>G	c.(4966-4968)gTg>gGg	p.V1656G	SACS_ENST00000382292.3_Missense_Mutation_p.V1656G|SACS_ENST00000402364.1_Missense_Mutation_p.V906G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1656					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTTCACTCACTTTTGCTTC	0.398													16	41					0	0	0	0	C	23913048	A	C	23913048	3	2	275	1	0	0	0	0	1	0	0	0	13889	159	6	5	8776	5	SACS	13	23913048	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08		23913048	91256830	170	49383											
KL	9365	broad.mit.edu	37	chr13	33590903	33590903	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagactcccggaacgccagtCtgccgttgggcgccccgtcg	5	6	14	16	6	1	1	0	0	1	1	3	3	2	2	5	2	2	1	5	2	1	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr13:33590903C>G	ENST00000380099.3	+	1	333	c.325C>G	c.(325-327)Ctg>Gtg	p.L109V	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	109	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GAACGCCAGTCTGCCGTTGGG	0.711													4	23					0	0	0	0	G	33590903	C	G	33590903	3	3	275	1	0	0	0	0	1	0	0	0	8383	912	32	2	327	2	KL	13	33590903	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	9677855	33590903	81578975	171	49384											
FARP1	10160	broad.mit.edu	37	chr13	99092944	99092944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccctgatgaagccaccGcggctgaccaggagtcagag	10	5	13	13	2	1	4	1	3	0	1	2	5	2	5	5	2	1	1	5	2	1	0	rs145597966	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr13:99092944G>A	ENST00000376586.2	+	25	3079	c.2743G>A	c.(2743-2745)Gcg>Acg	p.A915T	FARP1_ENST00000595437.1_Missense_Mutation_p.A915T|FARP1_ENST00000319562.6_Missense_Mutation_p.A884T			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	884					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGAAGCCACCGCGGCTGACCA	0.627													7	64					0	0	0	0	A	99092944	G	A	99092944	3	1	275	1	0	0	0	0	1	0	0	0	5721	1087	38	1	2963	1	FARP1	13	99092944	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	65502041	99092944	16076934	172	49385											
COCH	1690	broad.mit.edu	37	chr14	31348691	31348691	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcacatccaccaacaGgtatgaactatgaaacctat	16	7	5	13	0	0	2	0	2	0	0	1	2	1	2	4	1	4	2	4	1	6	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:31348691G>C	ENST00000460581.2	+	4	646	c.100_splice	c.e4+1	p.G34_splice	COCH_ENST00000216361.4_Splice_Site_p.G146_splice|COCH_ENST00000475087.1_Splice_Site_p.G146_splice|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Splice_Site_p.G146_splice			O43405	COCH_HUMAN	cochlin	146	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCCACCAACAGGTATGAACTA	0.383													9	58					0	0	0	0	C	31348691	G	C	31348691	5	2	275	1	0	0	0	0	0	0	1	0	3686	1014	35	4	454	4	COCH	14	31348691	Splice_Site	SNP	G	TCGA-CV-7095-01A-21D-2012-08		31348691	76000849	173	49386											
NIN	51199	broad.mit.edu	37	chr14	51224285	51224285	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtccctgtacttcccaGgtcccggacctcatcatctt	5	12	7	17	2	3	0	2	0	1	0	7	1	6	1	4	2	1	2	4	2	1	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:51224285G>A	ENST00000245441.5	-	18	3653	c.3463C>T	c.(3463-3465)Ctg>Ttg	p.L1155L	NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Silent_p.L1155L|NIN_ENST00000453196.1_Silent_p.L1155L|NIN_ENST00000382041.3_Silent_p.L1155L|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Silent_p.L1155L	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1155					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTACTTCCCAGGTCCCGGACC	0.478			T	PDGFRB	MPD								23	208					0	0	0	0	A	51224285	G	A	51224285	2	1	275	1	0	0	0	0	0	0	0	1	10487	991	35	4		4	NIN	14	51224285	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	19875594	51224285	56125255	174	49387											
SIX6	4990	broad.mit.edu	37	chr14	60976681	60976681	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccgagcggctgcagccAagaacaggtcggtacctaga	11	4	15	11	3	0	2	0	0	0	2	1	4	0	3	3	4	5	3	3	4	4	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:60976681A>T	ENST00000327720.5	+	1	1013	c.565A>T	c.(565-567)Aag>Tag	p.K189*		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	189					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GGCTGCAGCCAAGAACAGGTC	0.647													6	12					0	0	0	0	T	60976681	A	T	60976681	4	4	275	1	0	0	0	0	0	1	0	0	14439	131	5	5	567	5	SIX6	14	60976681	Nonsense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08	9752396	60976681	46372859	175	49388											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055505	72055505	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcgcaatgccaaaggtgaaGaacttgggaagtcatcagat	14	8	12	7	1	2	3	2	1	0	2	2	4	2	4	1	2	3	1	1	2	5	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:72055505G>C	ENST00000555818.1	+	2	1264	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E306Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E306Q	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	306					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAAAGGTGAAGAACTTGGGAA	0.433													13	47					0	0	0	0	C	72055505	G	C	72055505	3	2	275	1	0	0	0	0	1	0	0	0	14417	943	33	2	918	2	SIPA1L1	14	72055505	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	11078824	72055505	35294035	176	49389											
TRIP11	9321	broad.mit.edu	37	chr14	92461767	92461767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgctttacttgttcctgaGagacagaaagctgcagcgca	11	10	10	10	1	0	3	0	1	0	2	1	4	1	3	1	0	5	5	1	0	2	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:92461767G>A	ENST00000267622.4	-	14	5358	c.4985C>T	c.(4984-4986)tCt>tTt	p.S1662F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1662				QLSVSQEQ -> RFCLSGT (in Ref. 1; AAD09135).	transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGTTCCTGAGAGACAGAAAG	0.458			T	PDGFRB	AML								24	23					0	0	0	0	A	92461767	G	A	92461767	3	1	275	1	0	0	0	0	1	0	0	0	16650	942	33	2	986	2	TRIP11	14	92461767	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	20406262	92461767	14887773	177	49390											
DLK1	8788	broad.mit.edu	37	chr14	101201194	101201194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccccgagaagatcgacatGaccaccttcagcaaggaggc	12	6	10	13	2	1	3	1	1	0	2	3	6	2	4	4	2	1	1	4	2	2	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:101201194G>A	ENST00000341267.4	+	5	1355	c.1113G>A	c.(1111-1113)atG>atA	p.M371I	DLK1_ENST00000331224.6_Missense_Mutation_p.M298I	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	371					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGATCGACATGACCACCTTCA	0.562													35	97					0	0	0	0	A	101201194	G	A	101201194	3	1	275	1	0	0	0	0	1	0	0	0	4601	1290	45	2	1131	2	DLK1	14	101201194	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	8739427	101201194	6148346	178	49391											
NDN	4692	broad.mit.edu	37	chr15	23932088	23932088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccagctgcgccggggctgGcggtgccgggcccggctggg	2	4	20	15	5	0	0	0	0	0	0	0	0	0	0	4	7	3	3	4	7	0	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:23932088G>A	ENST00000331837.4	-	1	362	c.277C>T	c.(277-279)Cca>Tca	p.P93S		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	93					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCCGGGGCTGGCGGTGCCGGG	0.697									Prader-Willi syndrome				8	31					0	0	0	0	A	23932088	G	A	23932088	3	1	275	1	0	0	0	0	1	0	0	0	10317	1203	42	4	692	4	NDN	15	23932088	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08		23932088	78599304	179	49392											
MAP1A	4130	broad.mit.edu	37	chr15	43820775	43820775	+	Frame_Shift_Del	DEL	C	C	-																															ccaactgaaaccagccctaaCcccccaggccctgccccagc																										TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:43820775delC	ENST00000382031.1	+	5	7849	c.7818delC	c.(7816-7818)aafs	p.N2606fs	MAP1A_ENST00000399453.1_Frame_Shift_Del_p.N2368fs|MAP1A_ENST00000300231.5_Frame_Shift_Del_p.N2368fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2368						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAGCCCTAACCCCCCAGGCC	0.642													12	38	---	---	---	---					-	43820775	C	-	43820775	7	5	275	1	0	1	0	1	0	0	0	0	9296	506	18	0	7106	0	MAP1A	15	43820775	Frame_Shift_Del	DEL	C	TCGA-CV-7095-01A-21D-2012-08	19888687	43820775	58710617	180	49393											
USP8	9101	broad.mit.edu	37	chr15	50774167	50774167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgccaagaaatctgtagaaGatagggggaaaaggtgtcca	16	7	13	5	0	1	3	0	0	1	3	2	4	2	4	2	3	1	1	2	3	7	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:50774167G>C	ENST00000433963.1	+	12	2208	c.1708G>C	c.(1708-1710)Gat>Cat	p.D570H	USP8_ENST00000307179.4_Missense_Mutation_p.D570H|USP8_ENST00000425032.3_Missense_Mutation_p.D493H|USP8_ENST00000396444.3_Missense_Mutation_p.D570H	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	570					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATCTGTAGAAGATAGGGGGAA	0.418													10	29					0	0	0	0	C	50774167	G	C	50774167	3	2	275	1	0	0	0	0	1	0	0	0	17185	942	33	2	1746	2	USP8	15	50774167	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	6953392	50774167	51757225	181	49394											
USP8	9101	broad.mit.edu	37	chr15	50791262	50791262	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatacttcattgggaccaCgagtaactgatgtagccaca	12	12	8	9	1	1	1	1	1	0	0	1	3	1	2	2	1	3	2	2	1	4	7	rs142928952		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:50791262C>T	ENST00000433963.1	+	21	3834	c.3334C>T	c.(3334-3336)Cga>Tga	p.R1112*	USP8_ENST00000307179.4_Nonsense_Mutation_p.R1112*|USP8_ENST00000425032.3_Nonsense_Mutation_p.R1006*|USP8_ENST00000396444.3_Nonsense_Mutation_p.R1112*	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1112					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATTGGGACCACGAGTAACTGA	0.368													12	33					0	0	0	0	T	50791262	C	T	50791262	4	4	275	1	0	0	0	0	0	1	0	0	17185	528	19	1	3408	1	USP8	15	50791262	Nonsense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	17095	50791262	51740130	182	49395											
UNC13C	440279	broad.mit.edu	37	chr15	54916087	54916087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaccttggagacaagaaGagaaaacaaggcacaaaaac	21	2	8	10	0	0	3	0	0	0	3	0	5	0	3	2	2	3	1	2	2	8	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:54916087G>T	ENST00000545554.1	+	31	6294	c.6294G>T	c.(6292-6294)aaG>aaT	p.K2098N	UNC13C_ENST00000539562.2_Missense_Mutation_p.K19N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K2096N|UNC13C_ENST00000260323.11_Missense_Mutation_p.K2098N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2098	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGACAAGAAGAGAAAACAAG	0.403													19	45					8.28177e-16	9.37358e-16	1	0	T	54916087	G	T	54916087	3	4	275	1	0	0	0	0	1	0	0	0	17082	933	33	2	6412	2	UNC13C	15	54916087	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	4124825	54916087	47615305	183	49396											
NEDD4	4734	broad.mit.edu	37	chr15	56207863	56207863	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatttgttgtttcacaGtctaatgtagctgcttttcg	7	18	7	9	1	3	0	2	0	1	0	4	0	3	0	1	0	2	5	1	0	2	7			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:56207863G>A	ENST00000508342.1	-	1	1466	c.1167C>T	c.(1165-1167)gaC>gaT	p.D389D	NEDD4_ENST00000338963.2_Silent_p.D389D|NEDD4_ENST00000506154.1_Silent_p.D389D|NEDD4_ENST00000435532.3_Intron			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	389					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTGTTTCACAGTCTAATGTAG	0.363													17	38					0	0	0	0	A	56207863	G	A	56207863	2	1	275	1	0	0	0	0	0	0	0	1	10380	1020	36	4		4	NEDD4	15	56207863	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	1291776	56207863	46323529	184	49397											
MAP2K1	5604	broad.mit.edu	37	chr15	66782908	66782908	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttggctctgctccaccatCggccttaaccagcccagcac	7	8	9	17	1	1	0	0	0	1	0	3	0	2	0	5	3	4	4	5	3	1	2	rs150841154	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:66782908C>T	ENST00000307102.5	+	11	1668	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	SNAPC5_ENST00000395589.2_3'UTR|MAP2K1_ENST00000566326.1_Silent_p.I203I|CTD-3185P2.1_ENST00000565387.1_RNA|SNAPC5_ENST00000563480.2_3'UTR	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	379					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GCTCCACCATCGGCCTTAACC	0.532													40	82					0	0	0	0	T	66782908	C	T	66782908	2	4	275	1	0	0	0	0	0	0	0	1	9305	874	31	1		1	MAP2K1	15	66782908	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	10575045	66782908	35748484	185	49398											
CCDC33	80125	broad.mit.edu	37	chr15	74559050	74559050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtggtggacaacagaaaGaaacaggagttgttgtccta	15	8	13	5	0	0	2	0	0	0	2	1	4	1	4	1	4	2	2	1	4	5	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:74559050G>A	ENST00000321288.5	+	6	960	c.960G>A	c.(958-960)aaG>aaA	p.K320K	CCDC33_ENST00000398814.3_Silent_p.K117K			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	320	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACAACAGAAAGAAACAGGAGT	0.473													29	107					0	0	0	0	A	74559050	G	A	74559050	2	1	275	1	0	0	0	0	0	0	0	1	2832	933	33	2		2	CCDC33	15	74559050	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	7776142	74559050	27972342	186	49399											
C15orf27	123591	broad.mit.edu	37	chr15	76467994	76467994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcagctggagaggctgacGcagatctgtcaggagcaagg	11	5	17	8	1	2	3	1	1	1	2	2	6	2	4	0	4	3	5	0	4	1	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:76467994G>A	ENST00000388942.3	+	8	1023	c.747G>A	c.(745-747)acG>acA	p.T249T	RP11-593F23.1_ENST00000558424.1_RNA	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	249						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AGAGGCTGACGCAGATCTGTC	0.562													14	55					0	0	0	0	A	76467994	G	A	76467994	2	1	275	1	0	0	0	0	0	0	0	1	1800	1074	38	1		1	C15orf27	15	76467994	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	1908944	76467994	26063398	187	49400											
ADAMTS7	11173	broad.mit.edu	37	chr15	79067056	79067056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgtggcggaaggaggggcGgccagcagggcaggcctgca	8	2	21	10	3	0	0	0	0	0	0	0	3	0	2	2	8	2	3	2	8	1	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:79067056G>A	ENST00000388820.4	-	12	1996	c.1786C>T	c.(1786-1788)Cgc>Tgc	p.R596C	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	596	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AAGGAGGGGCGGCCAGCAGGG	0.632													10	39					0	0	0	0	A	79067056	G	A	79067056	3	1	275	1	0	0	0	0	1	0	0	0	271	1116	39	1	3326	1	ADAMTS7	15	79067056	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	2599062	79067056	23464336	188	49401											
AP3B2	8120	broad.mit.edu	37	chr15	83335612	83335612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgatgagctgccgggtgaagCgcgcccggtcgcgaatatca	8	6	15	12	7	1	2	1	2	0	0	2	4	1	2	2	2	3	1	2	2	3	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:83335612C>T	ENST00000261722.3	-	15	1946	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.R548H|AP3B2_ENST00000535359.1_Missense_Mutation_p.R580H	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	580					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCGGGTGAAGCGCGCCCGGTC	0.597													17	66					0	0	0	0	T	83335612	C	T	83335612	3	4	275	1	0	0	0	0	1	0	0	0	746	768	27	1	1557	1	AP3B2	15	83335612	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	4268556	83335612	19195780	189	49402											
TPSD1	23430	broad.mit.edu	37	chr16	1306640	1306640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgcacttctgcgggggctCcctcatccacccccagtggg	5	8	12	16	1	2	0	1	0	1	0	4	1	4	0	4	3	2	2	4	3	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:1306640C>T	ENST00000211076.3	+	2	354	c.206C>T	c.(205-207)tCc>tTc	p.S69F	TPSD1_ENST00000397534.2_Missense_Mutation_p.S62F	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGCGGGGGCTCCCTCATCCAC	0.687													22	57					0	0	0	0	T	1306640	C	T	1306640	3	4	275	1	0	0	0	0	1	0	0	0	16520	855	30	2	212	2	TPSD1	16	1306640	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08		1306640	89048113	190	49403											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1812845	1812845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctggcagcttcagccGcctcttcagctcttcctcca	4	12	7	18	1	5	0	2	0	3	0	7	0	7	0	5	1	4	3	5	1	0	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:1812845G>A	ENST00000250894.4	+	16	1890	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R572H	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	578					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|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						AGCTTCAGCCGCCTCTTCAGC	0.677													28	66					0	0	0	0	A	1812845	G	A	1812845	3	1	275	1	0	0	0	0	1	0	0	0	9355	1087	38	1	1811	1	MAPK8IP3	16	1812845	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	506205	1812845	88541908	191	49404											
KCTD5	54442	broad.mit.edu	37	chr16	2757382	2757382	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgttttcccgagatgtaatGaactgccatgtccaggaagc	11	10	10	10	2	0	2	0	1	0	1	2	4	2	3	3	1	3	2	3	1	3	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:2757382G>C	ENST00000564195.1	+	5	676	c.667G>C	c.(667-669)Gaa>Caa	p.E223Q	KCTD5_ENST00000301738.4_3'UTR			Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	0					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GAGATGTAATGAACTGCCATG	0.433													9	25					0	0	0	0	C	2757382	G	C	2757382	3	2	275	1	0	0	0	0	1	0	0	0	8165	1305	45	2		2	KCTD5	16	2757382	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	944537	2757382	87597371	192	49405											
CREBBP	1387	broad.mit.edu	37	chr16	3777767	3777767	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtcccccgtggtgtccccGaccagggacagttcgctgga	5	8	14	14	3	0	0	0	0	0	0	3	3	2	2	5	3	0	2	5	3	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:3777767G>A	ENST00000262367.5	-	31	8090	c.7281C>T	c.(7279-7281)gtC>gtT	p.V2427V	CREBBP_ENST00000382070.3_Silent_p.V2389V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2427					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGTGTCCCCGACCAGGGACA	0.562			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						36	131					0	0	0	0	A	3777767	G	A	3777767	2	1	275	1	0	0	0	0	0	0	0	1	3891	1045	37	1		1	CREBBP	16	3777767	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	1020385	3777767	86576986	193	49406											
GRIN2A	2903	broad.mit.edu	37	chr16	9857127	9857127	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cataaggcataacatgctccGaaatatacacatcattgtgg	15	10	7	9	1	1	0	1	0	0	0	2	1	2	0	1	2	3	2	1	2	5	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:9857127G>C	ENST00000396573.2	-	14	4583	c.4274C>G	c.(4273-4275)tCg>tGg	p.S1425W	GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1425W|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1425W|GRIN2A_ENST00000535259.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1425					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1425L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACATGCTCCGAAATATACAC	0.473													17	34					0	0	0	0	C	9857127	G	C	9857127	3	2	275	1	0	0	0	0	1	0	0	0	6829	1059	37	3	124	3	GRIN2A	16	9857127	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	6079360	9857127	80497626	194	49407											
MYH11	4629	broad.mit.edu	37	chr16	15832485	15832485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaagattcttggccttttCttcctcttctgcaagatttg	6	18	8	9	0	4	2	0	0	4	2	5	2	5	2	2	2	1	2	2	2	2	8			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:15832485C>T	ENST00000338282.6	-	24	3164	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	MYH11_ENST00000576790.1_Missense_Mutation_p.E1020K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1020K|MYH11_ENST00000452625.2_Missense_Mutation_p.E1027K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1027K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1020					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTGGCCTTTTCTTCCTCTTCT	0.358			T	CBFB	AML								12	71					0	0	0	0	T	15832485	C	T	15832485	3	4	275	1	0	0	0	0	1	0	0	0	10101	922	32	2	2967	2	MYH11	16	15832485	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	5975358	15832485	74522268	195	49408											
DNAH3	55567	broad.mit.edu	37	chr16	20981224	20981224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcatcgacttcaccagcGagatgtcggccgggttcagg	7	9	13	12	4	3	1	2	0	1	1	5	3	3	1	2	3	2	2	2	3	0	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:20981224G>A	ENST00000261383.3	-	52	8347	c.8348C>T	c.(8347-8349)tCg>tTg	p.S2783L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2783	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCACCAGCGAGATGTCGGC	0.592													35	86					0	0	0	0	A	20981224	G	A	20981224	3	1	275	1	0	0	0	0	1	0	0	0	4640	1059	37	1	4045	1	DNAH3	16	20981224	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	5148739	20981224	69373529	196	49409											
CD19	930	broad.mit.edu	37	chr16	28948971	28948971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttatgagaacgaggatgaaGagctgacccagccggtcgcc	11	6	13	11	3	0	4	0	3	0	2	1	7	0	5	3	2	3	1	3	2	3	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:28948971G>A	ENST00000538922.1	+	11	1461	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	CD19_ENST00000324662.3_Missense_Mutation_p.E467K|CD19_ENST00000567541.1_Missense_Mutation_p.E467K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	467					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CGAGGATGAAGAGCTGACCCA	0.567													19	35					0	0	0	0	A	28948971	G	A	28948971	3	1	275	1	0	0	0	0	1	0	0	0	3002	943	33	2	1441	2	CD19	16	28948971	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	7967747	28948971	61405782	197	49410											
KCTD13	253980	broad.mit.edu	37	chr16	29918300	29918300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttctcttcatcctcccCgcggccagccccaccagctc	4	9	7	21	3	2	0	1	0	1	0	7	0	4	0	7	2	2	2	7	2	0	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:29918300C>T	ENST00000568000.1	-	6	1884	c.883G>A	c.(883-885)Ggg>Agg	p.G295R		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	295					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						TCATCCTCCCCGCGGCCAGCC	0.637													33	80					0	0	0	0	T	29918300	C	T	29918300	3	4	275	1	0	0	0	0	1	0	0	0	8153	652	23	1	110	1	KCTD13	16	29918300	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	969329	29918300	60436453	198	49411											
MYLK3	91807	broad.mit.edu	37	chr16	46741676	46741676	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaccacatagaaatgtttCttgaggcaaggagagaataa	16	9	10	6	0	2	3	1	1	1	2	2	5	2	4	1	2	0	2	1	2	5	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:46741676C>T	ENST00000394809.4	-	13	2516		c.e13-1		MYLK3_ENST00000536476.1_Splice_Site|MYLK3_ENST00000562104.1_Splice_Site	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3						cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGAAATGTTTCTTGAGGCAAG	0.393													13	47					0	0	0	0	T	46741676	C	T	46741676	5	4	275	1	0	0	0	0	0	0	1	0	10128	927	32	2	63	2	MYLK3	16	46741676	Splice_Site	SNP	C	TCGA-CV-7095-01A-21D-2012-08	16823376	46741676	43613077	199	49412											
SALL1	6299	broad.mit.edu	37	chr16	51174819	51174819	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctcatcggaagtacttttCgcttcaaaggcagtgacatt	10	12	9	10	2	2	1	2	1	0	0	4	2	2	2	1	2	1	3	1	2	3	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:51174819C>T	ENST00000440970.1	-	2	1454	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.A438A|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	438					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A438A(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGTACTTTTCGCTTCAAAGG	0.488													33	95					0	0	0	0	T	51174819	C	T	51174819	2	4	275	1	0	0	0	0	0	0	0	1	13895	871	31	1		1	SALL1	16	51174819	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	4433143	51174819	39179934	200	49413											
CKLF	51192	broad.mit.edu	37	chr16	66597116	66597116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacaacattgacagttggtgGaggggtaagtggaagtcttt	11	11	14	5	0	1	1	0	1	1	0	1	3	1	3	0	5	1	2	0	5	3	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:66597116G>A	ENST00000264001.4	+	3	478	c.329G>A	c.(328-330)gGa>gAa	p.G110E	CKLF_ENST00000563092.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000351137.4_Missense_Mutation_p.G57E|CKLF_ENST00000417030.2_Missense_Mutation_p.G110E|CKLF_ENST00000345436.4_Intron|CKLF_ENST00000532838.1_Missense_Mutation_p.G57E|CKLF_ENST00000362093.4_Intron	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		ACAGTTGGTGGAGGGGTAAGT	0.368													8	35					0	0	0	0	A	66597116	G	A	66597116	3	1	275	1	0	0	0	0	1	0	0	0	3477	1174	41	2	339	2	CKLF	16	66597116	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	15422297	66597116	23757637	201	49414											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66766353	66766353	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtttttctcttctttcactGatgtgtaaatcaaggcagct	8	17	8	8	0	4	1	2	1	2	0	5	1	4	1	0	2	1	4	0	2	3	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:66766353G>C	ENST00000258198.2	-	7	1024	c.818C>G	c.(817-819)tCa>tGa	p.S273*	DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000440564.2_Nonsense_Mutation_p.S234*|DYNC1LI2_ENST00000443351.2_Nonsense_Mutation_p.S196*	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	273					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TTCTTTCACTGATGTGTAAAT	0.378													11	17					0	0	0	0	C	66766353	G	C	66766353	4	2	275	1	0	0	0	0	0	1	0	0	4881	1294	45	2	688	2	DYNC1LI2	16	66766353	Nonsense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	169237	66766353	23588400	202	49415											
SLC12A4	6560	broad.mit.edu	37	chr16	67979293	67979293	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttaatgtgcaccagctccCggaaattgtcaggggcatgg	9	9	13	10	1	1	0	1	0	0	0	2	1	2	1	2	4	2	4	2	4	2	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:67979293C>G	ENST00000422611.2	-	21	3056	c.3017G>C	c.(3016-3018)cGg>cCg	p.R1006P	SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R1004P|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R1004P|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R998P|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R956P|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R973P	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1004					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACCAGCTCCCGGAAATTGTC	0.572													28	58					0	0	0	0	G	67979293	C	G	67979293	3	3	275	1	0	0	0	0	1	0	0	0	14473	652	23	3	258	3	SLC12A4	16	67979293	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	1212940	67979293	22375460	203	49416											
SLC7A6OS	84138	broad.mit.edu	37	chr16	68344297	68344297	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcgtggacaaggtctaacaActgaaagcccgagttcccgg	11	7	11	12	3	1	1	0	1	1	0	3	3	2	2	2	3	3	1	2	3	4	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:68344297A>G	ENST00000263997.6	-	2	430	c.412T>C	c.(412-414)Ttg>Ctg	p.L138L		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	138					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		AGGTCTAACAACTGAAAGCCC	0.627													10	12					0	0	0	0	G	68344297	A	G	68344297	2	3	275	1	0	0	0	0	0	0	0	1	14790	40	2	5		5	SLC7A6OS	16	68344297	Silent	SNP	A	TCGA-CV-7095-01A-21D-2012-08	365004	68344297	22010456	204	49417											
YWHAE	7531	broad.mit.edu	37	chr17	1303386	1303386	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcttcgcctggtacaccaGatcctctcgatcatccatag	9	10	7	15	2	2	1	1	0	1	1	6	2	4	1	4	1	2	2	4	1	2	3	rs11552915		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:1303386G>C	ENST00000571732.1	-	0	128				YWHAE_ENST00000264335.8_Missense_Mutation_p.L7V|YWHAE_ENST00000498643.1_5'UTR|YWHAE_ENST00000573026.1_Missense_Mutation_p.L7V|YWHAE_ENST00000575977.1_Missense_Mutation_p.L7V			P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide						apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TGGTACACCAGATCCTCTCGA	0.662			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						19	99					0	0	0	0	C	1303386	G	C	1303386	1	2	275	1	0	0	0	0	0	0	0	0	17598	933	33	2		2	YWHAE	17	1303386	Translation_Start_Site	SNP	G	TCGA-CV-7095-01A-21D-2012-08		1303386	79891824	205	49418											
MNT	4335	broad.mit.edu	37	chr17	2298449	2298449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgagtccgggggcgcCaaccagggccggctgacgag	8	4	17	12	4	0	2	0	2	0	0	1	3	1	2	4	4	2	2	4	4	2	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:2298449C>T	ENST00000174618.4	-	2	778	c.373G>A	c.(373-375)Ggc>Agc	p.G125S		NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	125					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CCGGGGGCGCCAACCAGGGCC	0.721													4	7					0	0	0	0	T	2298449	C	T	2298449	3	4	275	1	0	0	0	0	1	0	0	0	9748	594	21	4	1395	4	MNT	17	2298449	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	995063	2298449	78896761	206	49419											
ASPA	443	broad.mit.edu	37	chr17	3385074	3385074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaataactttttaattcaGatgtttcattacattaaggt	14	17	6	4	0	2	1	2	0	0	1	2	2	2	2	0	2	2	1	0	2	5	8			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:3385074G>C	ENST00000263080.2	+	2	572	c.414G>C	c.(412-414)caG>caC	p.Q138H	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.Q138H	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	138					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTTTAATTCAGATGTTTCATT	0.318													3	22					0	0	0	0	C	3385074	G	C	3385074	3	2	275	1	0	0	0	0	1	0	0	0	1054	933	33	2	420	2	ASPA	17	3385074	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	1086625	3385074	77810136	207	49420											
PITPNM3	83394	broad.mit.edu	37	chr17	6373604	6373604	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggatgaaggccaccacGtctgtggactcccagtaact	10	8	10	13	1	2	1	1	1	1	0	3	3	3	3	3	3	1	1	3	3	2	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:6373604G>A	ENST00000262483.8	-	13	1836	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	ACKR6_ENST00000421306.3_Silent_p.D547D|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2																					AGGCCACCACGTCTGTGGACT	0.652													5	16					0	0	0	0	A	6373604	G	A	6373604	2	1	275	1	0	0	0	0	0	0	0	1	12024	1136	40	1		1	PITPNM3	17	6373604	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	2988530	6373604	74821606	208	49421											
C17orf74	201243	broad.mit.edu	37	chr17	7329885	7329885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggaggaggacaacctgcCcttcccgtatcccaagtacc	10	6	11	14	1	0	0	0	0	0	0	2	4	2	4	5	4	3	2	5	4	4	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7329885C>T	ENST00000333870.3	+	3	649	c.575C>T	c.(574-576)cCc>cTc	p.P192L	C17orf74_ENST00000574034.1_Silent_p.A79A|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	192						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GACAACCTGCCCTTCCCGTAT	0.597													33	157					0	0	0	0	T	7329885	C	T	7329885	3	4	275	1	0	0	0	0	1	0	0	0	1895	623	22	4	585	4	C17orf74	17	7329885	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	956281	7329885	73865325	209	49422											
C17orf74	201243	broad.mit.edu	37	chr17	7330746	7330746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcagagccaggtccagctCactgccaccggcttccacct	8	6	10	17	1	1	1	1	0	0	1	3	2	3	1	6	2	4	3	6	2	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7330746C>T	ENST00000333870.3	+	3	1510	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	479						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AGGTCCAGCTCACTGCCACCG	0.632													13	32					0	0	0	0	T	7330746	C	T	7330746	3	4	275	1	0	0	0	0	1	0	0	0	1895	838	29	2	1446	2	C17orf74	17	7330746	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	861	7330746	73864464	210	49423											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	44					0	0	0	0	A	7578263	G	A	7578263	4	1	275	1	0	0	0	0	0	1	0	0	16476	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	247517	7578263	73616947	211	49424											
DNAH2	146754	broad.mit.edu	37	chr17	7696466	7696466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctggagctgatccgcctCtggattgactatggcttctg	5	12	11	13	1	2	2	0	2	2	0	3	4	3	4	4	3	1	2	4	3	1	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7696466C>T	ENST00000572933.1	+	48	8972	c.7512C>T	c.(7510-7512)ctC>ctT	p.L2504L	DNAH2_ENST00000389173.2_Silent_p.L2504L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2504	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATCCGCCTCTGGATTGACT	0.517													22	84					0	0	0	0	T	7696466	C	T	7696466	2	4	275	1	0	0	0	0	0	0	0	1	4639	900	32	2		2	DNAH2	17	7696466	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	118203	7696466	73498744	212	49425											
ALOXE3	59344	broad.mit.edu	37	chr17	8021162	8021162	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctcctttgtactcacCgatccaggggcgaagtccct	6	11	9	15	2	2	0	1	0	1	0	5	2	4	0	5	2	1	1	5	2	2	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:8021162C>T	ENST00000380149.1	-	1	645	c.615_splice	c.e1+1	p.S205_splice	ALOXE3_ENST00000318227.3_Splice_Site_p.S181_splice|ALOXE3_ENST00000448843.2_Splice_Site_p.S49_splice			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	49	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TTGTACTCACCGATCCAGGGG	0.612													4	24					0	0	0	0	T	8021162	C	T	8021162	5	4	275	1	0	0	0	0	0	0	1	0	542	666	23	1	2048	1	ALOXE3	17	8021162	Splice_Site	SNP	C	TCGA-CV-7095-01A-21D-2012-08	324696	8021162	73174048	213	49426											
WDR16	146845	broad.mit.edu	37	chr17	9545105	9545105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggaaggttccctgtctgggtCgataaatggcatggatatca	10	11	13	7	1	2	0	1	0	1	0	4	3	3	2	1	5	0	2	1	5	4	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:9545105C>G	ENST00000352665.5	+	13	1709	c.1640C>G	c.(1639-1641)tCg>tGg	p.S547W	WDR16_ENST00000299764.5_Missense_Mutation_p.S557W|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000396219.3_Missense_Mutation_p.S479W	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	547						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGTCTGGGTCGATAAATGGC	0.458													20	71					0	0	0	0	G	9545105	C	G	9545105	3	3	275	1	0	0	0	0	1	0	0	0	17372	893	31	3	1690	3	WDR16	17	9545105	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	1523943	9545105	71650105	214	49427											
MYH3	4621	broad.mit.edu	37	chr17	10547749	10547749	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatccagttgctggttaatGcgagtgaccatccacaagaa	12	10	10	9	1	0	2	0	1	0	1	2	3	2	2	3	1	2	4	3	1	4	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:10547749G>A	ENST00000583535.1	-	14	1416	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	MYH3_ENST00000226209.7_Silent_p.R443R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	443	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTGGTTAATGCGAGTGACCA	0.398													22	68					0	0	0	0	A	10547749	G	A	10547749	2	1	275	1	0	0	0	0	0	0	0	1	10106	1306	46	4		4	MYH3	17	10547749	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	1002644	10547749	70647461	215	49428											
MYOCD	93649	broad.mit.edu	37	chr17	12642624	12642624	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcccccccagcacccccatAgccgtgcatgctgctgtaaa	8	6	9	18	1	0	0	0	0	0	0	0	0	0	0	6	1	5	5	6	1	3	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:12642624A>T	ENST00000425538.1	+	7	896	c.696A>T	c.(694-696)atA>atT	p.I232I	MYOCD_ENST00000395988.1_Silent_p.I136I|MYOCD_ENST00000343344.4_Silent_p.I232I	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	232					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCACCCCCATAGCCGTGCATG	0.587													32	39					0	0	0	0	T	12642624	A	T	12642624	2	4	275	1	0	0	0	0	0	0	0	1	10157	410	15	5		5	MYOCD	17	12642624	Silent	SNP	A	TCGA-CV-7095-01A-21D-2012-08	2094875	12642624	68552586	216	49429											
KCNJ12	3768	broad.mit.edu	37	chr17	21318895	21318895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtggacatccgctggCggtacatgctgctcatcttc	5	12	11	13	2	2	0	1	0	1	0	4	1	3	1	2	3	3	4	2	3	1	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:21318895C>T	ENST00000583088.1	+	3	1136	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R81W	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.R81G(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CATCCGCTGGCGGTACATGCT	0.577										Prostate(3;0.18)			9	89					0	0	0	0	T	21318895	C	T	21318895	3	4	275	1	0	0	0	0	1	0	0	0	8099	759	27	1	243	1	KCNJ12	17	21318895	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	8676271	21318895	59876315	217	49430											
WSB1	26118	broad.mit.edu	37	chr17	25628934	25628934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atactttgcttggtcacaagGacatcgcacagtaaagcttg	12	11	9	9	1	1	0	1	0	0	0	2	1	1	1	0	2	3	4	0	2	4	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:25628934G>T	ENST00000262394.2	+	2	477	c.161G>T	c.(160-162)gGa>gTa	p.G54V	WSB1_ENST00000583193.1_Intron|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000581185.1_Missense_Mutation_p.G54V|WSB1_ENST00000427287.2_Missense_Mutation_p.G23V	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	54					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TGGTCACAAGGACATCGCACA	0.413													35	201					3.76114e-14	4.22978e-14	1	0	T	25628934	G	T	25628934	3	4	275	1	0	0	0	0	1	0	0	0	17500	1174	41	2	167	2	WSB1	17	25628934	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	4310039	25628934	55566276	218	49431											
TMEM99	147184	broad.mit.edu	37	chr17	38991082	38991082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtctccttggtgttggctCgtggttgctcttcaacaact	4	17	10	10	1	3	0	1	0	2	0	5	0	3	0	1	3	3	4	1	3	2	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:38991082C>T	ENST00000301665.3	+	3	618	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	105						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTGTTGGCTCGTGGTTGCTC	0.468													62	129					0	0	0	0	T	38991082	C	T	38991082	3	4	275	1	0	0	0	0	1	0	0	0	16320	893	31	1	316	1	TMEM99	17	38991082	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	13362148	38991082	42204128	219	49432											
KCTD2	23510	broad.mit.edu	37	chr17	73049121	73049121	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccaggtgtgctggaggAagcggagttttacaacatcg	9	11	14	7	2	0	0	0	0	0	0	2	3	1	3	1	4	4	3	1	4	3	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:73049121A>T	ENST00000581589.1	+	0	446				KCTD2_ENST00000322444.6_Missense_Mutation_p.E154V			Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2							voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					GTGCTGGAGGAAGCGGAGTTT	0.463													20	21					0	0	0	0	T	73049121	A	T	73049121	1	4	275	1	0	0	0	0	0	0	0	0	8160	246	9	5		5	KCTD2	17	73049121	Translation_Start_Site	SNP	A	TCGA-CV-7095-01A-21D-2012-08	34058039	73049121	8146089	220	49433											
TRIM65	201292	broad.mit.edu	37	chr17	73888194	73888194	+	Frame_Shift_Del	DEL	G	G	-																															caactgcttcaggtcacccaGctgttggtcttcatcccact																										TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:73888194delG	ENST00000269383.3	-	4	882	c.817delC	c.(817-819)tgfs	p.L273fs		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	273						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTCACCCAGCTGTTGGTCT	0.632													2	4	---	---	---	---					-	73888194	G	-	73888194	7	5	275	1	0	1	0	1	0	0	0	0	16634	962	34	0	748	0	TRIM65	17	73888194	Frame_Shift_Del	DEL	G	TCGA-CV-7095-01A-21D-2012-08	839073	73888194	7307016	221	49434											
CANT1	124583	broad.mit.edu	37	chr17	76991155	76991155	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtagttggacacccagttCtcgtggtccacgctgccctt	5	13	10	13	2	1	0	0	0	1	0	3	1	2	1	3	2	1	4	3	2	1	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:76991155C>T	ENST00000302345.2	-	3	1274	c.780G>A	c.(778-780)gaG>gaA	p.E260E	CANT1_ENST00000591773.1_Silent_p.E260E|CANT1_ENST00000392446.5_Silent_p.E260E	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	260					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACACCCAGTTCTCGTGGTCCA	0.652			T	ETV4	prostate								6	13					0	0	0	0	T	76991155	C	T	76991155	2	4	275	1	0	0	0	0	0	0	0	1	2642	912	32	2		2	CANT1	17	76991155	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	3102961	76991155	4204055	222	49435											
SLC25A10	1468	broad.mit.edu	37	chr17	79673961	79673961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaagatatccccatagCgaaagaacggacacatttca	17	6	9	9	2	1	3	1	0	0	3	2	6	2	5	2	2	2	0	2	2	6	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:79673961C>T	ENST00000571730.1	+	4	502	c.371C>T	c.(370-372)gCg>gTg	p.A124V	SLC25A10_ENST00000541223.1_Missense_Mutation_p.A124V|MRPL12_ENST00000333676.3_Missense_Mutation_p.A124V			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	ATCCCCATAGCGAAAGAACGG	0.562													17	13					0	0	0	0	T	79673961	C	T	79673961	3	4	275	1	0	0	0	0	1	0	0	0	14560	768	27	1		1	SLC25A10	17	79673961	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	2682806	79673961	1521249	223	49436											
COLEC12	81035	broad.mit.edu	37	chr18	335145	335145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtccaggctcccccttCtctcctttctgtcccttgtt	1	16	8	16	0	2	0	0	0	2	0	7	0	6	0	5	3	0	2	5	3	0	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:335145C>A	ENST00000400256.3	-	6	1620	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	471	Collagen-like 1.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCTCCCCCTTCTCTCCTTTCT	0.632													14	42					0.00185496	0.0020029	1	0	A	335145	C	A	335145	3	1	275	1	0	0	0	0	1	0	0	0	3742	912	32	2	835	2	COLEC12	18	335145	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08		335145	77742103	224	49437											
ZNF521	25925	broad.mit.edu	37	chr18	22806343	22806343	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatagcaatggggacaaaaGaatgcattactatctttagc	16	11	8	6	0	1	1	0	0	1	1	1	2	1	2	0	2	4	2	0	2	9	6			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:22806343G>C	ENST00000361524.3	-	4	1687	c.1539C>G	c.(1537-1539)ttC>ttG	p.F513L	ZNF521_ENST00000584787.1_Missense_Mutation_p.F293L|ZNF521_ENST00000538137.2_Missense_Mutation_p.F513L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	513					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGGGACAAAAGAATGCATTAC	0.458			T	PAX5	ALL								21	51					0	0	0	0	C	22806343	G	C	22806343	3	2	275	1	0	0	0	0	1	0	0	0	18060	933	33	2	2416	2	ZNF521	18	22806343	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	22471198	22806343	55270905	225	49438											
CXXC1	30827	broad.mit.edu	37	chr18	47810844	47810844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcactggggcagtgacGcagggtccttggcatcagcc	7	6	15	13	1	1	1	1	1	0	0	2	1	2	1	3	5	1	4	3	5	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:47810844G>A	ENST00000285106.6	-	9	1823	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	CXXC1_ENST00000412036.2_Missense_Mutation_p.A374V|CXXC1_ENST00000589940.1_Missense_Mutation_p.A370V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	370					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GGGCAGTGACGCAGGGTCCTT	0.597													13	120					0	0	0	0	A	47810844	G	A	47810844	3	1	275	1	0	0	0	0	1	0	0	0	4129	1087	38	1	889	1	CXXC1	18	47810844	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	25004501	47810844	30266404	226	49439											
ME2	4200	broad.mit.edu	37	chr18	48447048	48447048	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggacagctgcagtagctCtagcaggtcttcttgcagca	9	9	12	11	0	3	0	0	0	3	0	3	1	3	1	0	2	6	7	0	2	2	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:48447048C>G	ENST00000321341.5	+	9	1134	c.862C>G	c.(862-864)Cta>Gta	p.L288V	ME2_ENST00000382927.3_Missense_Mutation_p.L288V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	288					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TGCAGTAGCTCTAGCAGGTCT	0.348													40	50					0	0	0	0	G	48447048	C	G	48447048	3	3	275	1	0	0	0	0	1	0	0	0	9487	912	32	2	892	2	ME2	18	48447048	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	636204	48447048	29630200	227	49440											
ONECUT2	9480	broad.mit.edu	37	chr18	55143901	55143901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctggagaagtggcaagaCgatctgagcacagggggctc	11	5	16	9	1	1	3	0	1	1	2	2	5	1	3	1	4	2	3	1	4	2	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:55143901C>T	ENST00000491143.2	+	2	1493	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	487					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AGTGGCAAGACGATCTGAGCA	0.572													7	35					0	0	0	0	T	55143901	C	T	55143901	2	4	275	1	0	0	0	0	0	0	0	1	10940	535	19	1		1	ONECUT2	18	55143901	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	6696853	55143901	22933347	228	49441											
DOK6	220164	broad.mit.edu	37	chr18	67365664	67365664	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaacgtgtatcttatgcCtacaccaaacctggatattt	12	14	5	10	1	2	0	1	0	1	0	2	1	2	1	3	1	4	1	3	1	6	6			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:67365664C>G	ENST00000382713.5	+	5	624	c.434C>G	c.(433-435)cCt>cGt	p.P145R	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	145	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TATCTTATGCCTACACCAAAC	0.398													11	37					0	0	0	0	G	67365664	C	G	67365664	3	3	275	1	0	0	0	0	1	0	0	0	4737	681	24	4	452	4	DOK6	18	67365664	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	12221763	67365664	10711584	229	49442											
DUS3L	56931	broad.mit.edu	37	chr19	5785684	5785684	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcgtgtccgagccccAgtgctccaggccgtagttgg	4	8	14	15	3	0	0	0	0	0	0	2	1	2	0	6	2	3	3	6	2	1	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:5785684A>T	ENST00000309061.7	-	11	1777	c.1681T>A	c.(1681-1683)Tgg>Agg	p.W561R	DUS3L_ENST00000320699.8_Missense_Mutation_p.W319R	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	561					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TCCGAGCCCCAGTGCTCCAGG	0.677													6	18					0	0	0	0	T	5785684	A	T	5785684	3	4	275	1	0	0	0	0	1	0	0	0	4843	188	7	5	283	5	DUS3L	19	5785684	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08		5785684	53343299	230	49443											
STXBP2	6813	broad.mit.edu	37	chr19	7708073	7708073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctacgcacctgcatctagCagatgattgtatgaagcact	11	12	8	10	1	2	3	0	2	2	1	2	3	2	3	1	0	4	5	1	0	4	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:7708073C>G	ENST00000441779.2	+	13	1119	c.1082C>G	c.(1081-1083)gCa>gGa	p.A361G	STXBP2_ENST00000414284.2_Missense_Mutation_p.A347G|STXBP2_ENST00000221283.5_Missense_Mutation_p.A350G	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	350					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCATCTAGCAGATGATTGT	0.587													9	37					0	0	0	0	G	7708073	C	G	7708073	3	3	275	1	0	0	0	0	1	0	0	0	15443	710	25	4	1099	4	STXBP2	19	7708073	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	1922389	7708073	51420910	231	49444											
ZNF443	10224	broad.mit.edu	37	chr19	12541320	12541320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcatacggcttctctcCagagtgaattctttcatgta	10	15	6	10	1	4	2	2	1	2	1	6	2	5	2	1	1	1	2	1	1	3	6			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:12541320C>T	ENST00000301547.5	-	4	1863	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	556					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GGCTTCTCTCCAGAGTGAATT	0.388													11	49					0	0	0	0	T	12541320	C	T	12541320	3	4	275	1	0	0	0	0	1	0	0	0	18011	603	21	4	353	4	ZNF443	19	12541320	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	4833247	12541320	46587663	232	49445											
DCAF15	90379	broad.mit.edu	37	chr19	14070284	14070284	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggagaggggacggagccGgaggatggtgagcggggggc	7	3	24	7	4	0	2	0	1	0	1	1	7	1	6	2	10	2	0	2	10	0	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:14070284G>A	ENST00000254337.6	+	7	1233	c.1212G>A	c.(1210-1212)ccG>ccA	p.P404P		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	404										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GGACGGAGCCGGAGGATGGTG	0.687													25	49					0	0	0	0	A	14070284	G	A	14070284	2	1	275	1	0	0	0	0	0	0	0	1	4300	1103	39	1		1	DCAF15	19	14070284	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	1528964	14070284	45058699	233	49446											
NOTCH3	4854	broad.mit.edu	37	chr19	15276316	15276316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagtctgtagagcggtttCggatgagaatctaggacaga	12	9	13	7	2	2	3	0	1	2	3	3	6	2	5	1	3	1	2	1	3	4	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:15276316C>T	ENST00000263388.2	-	31	5753	c.5678G>A	c.(5677-5679)cGa>cAa	p.R1893Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1893					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGAGCGGTTTCGGATGAGAAT	0.592													6	22					0	0	0	0	T	15276316	C	T	15276316	3	4	275	1	0	0	0	0	1	0	0	0	10620	884	31	1	1299	1	NOTCH3	19	15276316	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	1206032	15276316	43852667	234	49447											
CEBPG	1054	broad.mit.edu	37	chr19	33870422	33870422	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcacaagacacactgcagAgagtcaatcagctcaaagaa	19	4	8	10	0	3	3	3	0	0	3	3	4	3	3	0	0	3	3	0	0	5	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:33870422A>T	ENST00000284000.3	+	2	939	c.277A>T	c.(277-279)Aga>Tga	p.R93*		NM_001252296.1|NM_001806.3	NP_001239225.1|NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	93					B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					CACACTGCAGAGAGTCAATCA	0.438													9	12					0	0	0	0	T	33870422	A	T	33870422	4	4	275	1	0	0	0	0	0	1	0	0	3232	296	11	5	279	5	CEBPG	19	33870422	Nonsense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08	18594106	33870422	25258561	235	49448											
SIPA1L3	23094	broad.mit.edu	37	chr19	38591744	38591744	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgcaaggccggccagagctCcgaggaggagatgtacaaca	12	5	14	10	2	0	2	0	0	0	2	1	5	1	3	3	4	4	3	3	4	3	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:38591744C>G	ENST00000222345.6	+	6	2416	c.1907C>G	c.(1906-1908)tCc>tGc	p.S636C		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	636	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCCAGAGCTCCGAGGAGGAG	0.607													8	28					0	0	0	0	G	38591744	C	G	38591744	3	3	275	1	0	0	0	0	1	0	0	0	14419	855	30	2	1921	2	SIPA1L3	19	38591744	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	4721322	38591744	20537239	236	49449											
LIPE	3991	broad.mit.edu	37	chr19	42912238	42912238	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctcggggtcgatggcaaAgcggccgctggtgaagagag	9	5	18	9	4	0	2	0	1	0	1	2	4	0	2	1	5	2	3	1	5	2	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:42912238A>G	ENST00000244289.4	-	4	1822	c.1546T>C	c.(1546-1548)Ttt>Ctt	p.F516L	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	516					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)				TCGATGGCAAAGCGGCCGCTG	0.627													14	74					0	0	0	0	G	42912238	A	G	42912238	3	3	275	1	0	0	0	0	1	0	0	0	8876	72	3	5	1712	5	LIPE	19	42912238	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08	4320494	42912238	16216745	237	49450											
SPIB	6689	broad.mit.edu	37	chr19	50925756	50925756	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggcgtcttctatgacctGgacagctgcaagcattccag	9	10	11	11	1	2	1	0	1	2	0	3	3	3	2	2	2	3	3	2	2	2	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:50925756G>A	ENST00000439922.2	+	3	100	c.20G>A	c.(19-21)tGg>tAg	p.W7*	SPIB_ENST00000595883.1_Silent_p.L26L|SPIB_ENST00000596074.1_Silent_p.L26L|SPIB_ENST00000270632.7_Silent_p.L26L|SPIB_ENST00000597855.1_Silent_p.L26L	NM_001243998.1	NP_001230927.1	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	0	TAD1 (Acidic).				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCTATGACCTGGACAGCTGCA	0.612													16	21					0	0	0	0	A	50925756	G	A	50925756	4	1	275	1	0	0	0	0	0	1	0	0	15140	1335	47	4	88	4	SPIB	19	50925756	Nonsense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	8013518	50925756	8203227	238	49451											
SIGLEC12	89858	broad.mit.edu	37	chr19	51994964	51994964	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgtgggtactgaggcctCgctttgtggaagctgaggga	6	11	16	8	1	0	2	0	2	0	0	2	4	1	4	2	4	2	3	2	4	2	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:51994964C>T	ENST00000291707.3	-	8	1774	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	SIGLEC12_ENST00000598614.1_Silent_p.A455A	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	573					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACTGAGGCCTCGCTTTGTGGA	0.597													16	159					0	0	0	0	T	51994964	C	T	51994964	2	4	275	1	0	0	0	0	0	0	0	1	14396	871	31	1		1	SIGLEC12	19	51994964	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	1069208	51994964	7134019	239	49452											
ZNF615	284370	broad.mit.edu	37	chr19	52497522	52497522	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgagctgtgatttcttgagGaaggttttgtcacattcagt	8	17	11	5	0	3	3	2	3	1	0	3	4	3	4	0	2	1	2	0	2	1	6			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:52497522G>A	ENST00000602063.1	-	6	1156	c.807C>T	c.(805-807)ttC>ttT	p.F269F	ZNF615_ENST00000598071.1_Silent_p.F280F|ZNF615_ENST00000376716.5_Silent_p.F269F|ZNF615_ENST00000594083.1_Silent_p.F280F|ZNF615_ENST00000391795.3_Silent_p.F274F			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATTTCTTGAGGAAGGTTTTGT	0.413													24	220					0	0	0	0	A	52497522	G	A	52497522	2	1	275	1	0	0	0	0	0	0	0	1	18135	1165	41	2		2	ZNF615	19	52497522	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	502558	52497522	6631461	240	49453											
ZNF28	7576	broad.mit.edu	37	chr19	53303120	53303120	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attacacttgtaaggtttctCtccactatgaagcctatgat	11	15	6	9	0	1	2	0	2	1	0	3	2	2	2	2	1	2	2	2	1	5	6			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:53303120C>G	ENST00000438150.2	-	2	2712	c.1819G>C	c.(1819-1821)Gag>Cag	p.E607Q	ZNF28_ENST00000414252.2_Missense_Mutation_p.E607Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.E607Q|ZNF28_ENST00000457749.2_Missense_Mutation_p.E660Q			P17035	ZNF28_HUMAN	zinc finger protein 28	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TAAGGTTTCTCTCCACTATGA	0.423													26	231					0	0	0	0	G	53303120	C	G	53303120	3	3	275	1	0	0	0	0	1	0	0	0	17908	922	32	2	182	2	ZNF28	19	53303120	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	805598	53303120	5825863	241	49454											
ZNF415	55786	broad.mit.edu	37	chr19	53612314	53612314	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccacactctttacatgtGtaaggtttctctccaatatg	9	16	6	10	0	2	0	0	0	2	0	4	0	3	0	2	1	2	2	2	1	4	6			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:53612314G>T	ENST00000455735.2	-	7	1448	c.1128C>A	c.(1126-1128)taC>taA	p.Y376*	ZNF415_ENST00000440291.1_Nonsense_Mutation_p.Y315*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.Y98*|ZNF415_ENST00000500065.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Y376*|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Y340*|ZNF415_ENST00000594011.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTTTACATGTGTAAGGTTTCT	0.398													40	41					5.71845e-15	6.45159e-15	1	0	T	53612314	G	T	53612314	4	4	275	1	0	0	0	0	0	1	0	0	17987	1372	48	4	687	4	ZNF415	19	53612314	Nonsense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	309194	53612314	5516669	242	49455											
ZNF765	91661	broad.mit.edu	37	chr19	53912281	53912281	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catagacttcatactggacaGaaaccttacaaatgtgaaga	17	9	7	8	0	1	4	1	1	0	3	1	5	1	5	1	1	3	0	1	1	6	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:53912281G>A	ENST00000396408.3	+	4	1590	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ATACTGGACAGAAACCTTACA	0.378													13	98					0	0	0	0	A	53912281	G	A	53912281	2	1	275	1	0	0	0	0	0	0	0	1	18233	933	33	2		2	ZNF765	19	53912281	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	299967	53912281	5216702	243	49456											
SIGLEC1	6614	broad.mit.edu	37	chr20	3669239	3669239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggcacaggttgaggtctCacatgtggctgcatcaggat	8	10	15	8	0	2	1	2	1	1	0	3	2	2	2	0	6	1	4	0	6	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:3669239C>T	ENST00000344754.4	-	21	5097	c.5098G>A	c.(5098-5100)Gag>Aag	p.E1700K	SIGLEC1_ENST00000202578.4_Silent_p.V1675V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1700					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTTGAGGTCTCACATGTGGCT	0.612													5	18					0	0	0	0	T	3669239	C	T	3669239	3	4	275	1	0	0	0	0	1	0	0	0	14393	835	29	2	35	2	SIGLEC1	20	3669239	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08		3669239	59356281	244	49457											
BFSP1	631	broad.mit.edu	37	chr20	17475534	17475534	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgtaccagctttgtgtcttCcaaaccttttaatggtgcat	8	16	7	10	0	1	0	0	0	1	0	2	0	2	0	3	1	4	3	3	1	3	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:17475534C>G	ENST00000377873.3	-	8	1222	c.1183G>C	c.(1183-1185)Gaa>Caa	p.E395Q	BFSP1_ENST00000544874.1_Missense_Mutation_p.E256Q|BFSP1_ENST00000377868.2_Missense_Mutation_p.E270Q|BFSP1_ENST00000536626.1_Missense_Mutation_p.E256Q	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	395	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTTGTGTCTTCCAAACCTTTT	0.413													48	74					0	0	0	0	G	17475534	C	G	17475534	3	3	275	1	0	0	0	0	1	0	0	0	1420	864	30	2	818	2	BFSP1	20	17475534	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	13806295	17475534	45549986	245	49458											
SUN5	140732	broad.mit.edu	37	chr20	31590695	31590695	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggaggtgtcctctgccatCctgctggtgttccggcctcg	2	11	15	13	2	1	0	0	0	1	0	5	1	4	1	5	5	2	2	5	5	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:31590695C>T	ENST00000356173.3	-	2	200	c.108G>A	c.(106-108)agG>agA	p.R36R	SUN5_ENST00000375523.3_Silent_p.R36R|SUN5_ENST00000375519.2_Silent_p.R36R	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	36					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CCTCTGCCATCCTGCTGGTGT	0.527													19	49					0	0	0	0	T	31590695	C	T	31590695	2	4	275	1	0	0	0	0	0	0	0	1	15484	854	30	2		2	SUN5	20	31590695	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	14115161	31590695	31434825	246	49459											
BCAS1	8537	broad.mit.edu	37	chr20	52609131	52609131	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgcctctagcctggaTctcggatgtcttctgaccag	5	13	11	12	1	4	1	0	1	4	0	5	3	4	3	3	3	2	0	3	3	1	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:52609131T>A	ENST00000371440.3	-	7	1319	c.982A>T	c.(982-984)Atc>Ttc	p.I328F	BCAS1_ENST00000395961.3_Intron|BCAS1_ENST00000434986.2_Missense_Mutation_p.I41F|BCAS1_ENST00000371435.2_Intron			O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	309						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTAGCCTGGATCTCGGATGTC	0.453													8	36					0	0	0	0	A	52609131	T	A	52609131	3	1	275	1	0	0	0	0	1	0	0	0	1354	1450	50	5		5	BCAS1	20	52609131	Missense_Mutation	SNP	T	TCGA-CV-7095-01A-21D-2012-08	21018436	52609131	10416389	247	49460											
OSBPL2	9885	broad.mit.edu	37	chr20	60835072	60835072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcttctggggaattttcaGaggcaaatcagaaagtcacg	13	10	10	8	1	5	2	3	0	2	2	5	3	5	3	0	3	0	1	0	3	3	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:60835072G>A	ENST00000313733.3	+	3	275	c.73G>A	c.(73-75)Gag>Aag	p.E25K	OSBPL2_ENST00000358053.2_Splice_Site|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	25					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGAATTTTCAGAGGCAAATCA	0.423													23	55					0	0	0	0	A	60835072	G	A	60835072	3	1	275	1	0	0	0	0	1	0	0	0	11349	956	33	2	79	2	OSBPL2	20	60835072	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	8225941	60835072	2190448	248	49461											
NKAIN4	128414	broad.mit.edu	37	chr20	61873937	61873937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatggcttttcattgacatGgtagagaggaaatggatcaa	13	11	13	4	0	2	2	2	1	0	1	2	6	2	5	0	5	0	2	0	5	3	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:61873937G>A	ENST00000370316.3	-	6	660	c.571C>T	c.(571-573)Cat>Tat	p.H191Y	NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370313.1_Intron|NKAIN4_ENST00000370307.2_Missense_Mutation_p.H129Y	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	191						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					TCATTGACATGGTAGAGAGGA	0.453													65	198					0	0	0	0	A	61873937	G	A	61873937	3	1	275	1	0	0	0	0	1	0	0	0	10508	1348	47	4	63	4	NKAIN4	20	61873937	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	1038865	61873937	1151583	249	49462											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46011649	46011649	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagagcaggtgggcacAcagcacacaggcacgcagca	12	3	12	14	1	1	1	1	0	0	1	2	1	2	1	1	3	3	6	1	3	0	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr21:46011649A>C	ENST00000400368.1	-	1	737	c.717T>G	c.(715-717)tgT>tgG	p.C239W	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	239	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGTGGGCACACAGCACACAG	0.657													70	197					0	0	0	0	C	46011649	A	C	46011649	3	2	275	1	0	0	0	0	1	0	0	0	8565	157	6	5	384	5	KRTAP10-6	21	46011649	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08		46011649	2118246	250	49463											
SLC19A1	6573	broad.mit.edu	37	chr21	46957703	46957703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgctcccgcgtgaagttCttgtcgggccccaggaggta	5	9	14	13	3	1	1	0	1	1	0	3	2	2	2	4	3	1	3	4	3	2	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr21:46957703C>T	ENST00000311124.4	-	2	323	c.171G>A	c.(169-171)aaG>aaA	p.K57K	SLC19A1_ENST00000380010.4_Silent_p.K57K|SLC19A1_ENST00000567670.1_Silent_p.K57K	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	57					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCGTGAAGTTCTTGTCGGGCC	0.687													7	7					0	0	0	0	T	46957703	C	T	46957703	2	4	275	1	0	0	0	0	0	0	0	1	14516	912	32	2		2	SLC19A1	21	46957703	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	946054	46957703	1172192	251	49464											
MCM3AP	8888	broad.mit.edu	37	chr21	47697544	47697544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggagagcacacatggcccGaggccctcggagccctcgga	9	3	15	14	3	0	1	0	0	0	1	2	5	0	3	3	5	2	1	3	5	0	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr21:47697544G>A	ENST00000397708.1	-	6	2009	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	MCM3AP_ENST00000291688.1_Silent_p.L585L			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	585					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CACATGGCCCGAGGCCCTCGG	0.552													12	111					0	0	0	0	A	47697544	G	A	47697544	2	1	275	1	0	0	0	0	0	0	0	1	9457	1045	37	1		1	MCM3AP	21	47697544	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	739841	47697544	432351	252	49465											
CECR1	51816	broad.mit.edu	37	chr22	17662734	17662734	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagagttcatggccagctgtTtgagggtcctcaggtcagcc	7	11	13	10	0	3	2	3	1	0	1	4	2	4	2	3	3	2	3	3	3	1	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:17662734T>A	ENST00000399839.1	-	9	1688	c.1418A>T	c.(1417-1419)aAa>aTa	p.K473I	CECR1_ENST00000262607.3_Missense_Mutation_p.K473I|CECR1_ENST00000330232.4_Missense_Mutation_p.K232I|CECR1_ENST00000399837.2_Missense_Mutation_p.K473I|CECR1_ENST00000449907.2_Missense_Mutation_p.K431I			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	473					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGCCAGCTGTTTGAGGGTCCT	0.547													26	50					0	0	0	0	A	17662734	T	A	17662734	3	1	275	1	0	0	0	0	1	0	0	0	3234	1841	64	5	125	5	CECR1	22	17662734	Missense_Mutation	SNP	T	TCGA-CV-7095-01A-21D-2012-08		17662734	33641832	253	49466											
IGLL1	3543	broad.mit.edu	37	chr22	23915612	23915612	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtttggagggcgtggtcatCtccacgccctgggtgatggg	4	11	17	9	2	2	1	1	1	1	0	3	2	2	2	2	5	0	1	2	5	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:23915612C>G	ENST00000330377.2	-	3	600	c.483G>C	c.(481-483)gaG>gaC	p.E161D	IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	161	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GCGTGGTCATCTCCACGCCCT	0.582													3	154					0	0	0	0	G	23915612	C	G	23915612	3	3	275	1	0	0	0	0	1	0	0	0	7646	912	32	2	162	2	IGLL1	22	23915612	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	6252878	23915612	27388954	254	49467											
MGAT3	4248	broad.mit.edu	37	chr22	39883764	39883764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacggccggaggagaagcctGagggggccaacggctcctcg	8	3	18	12	4	0	2	0	1	0	1	2	5	1	3	4	6	2	1	4	6	2	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:39883764G>A	ENST00000341184.6	+	2	627	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	138					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGAGAAGCCTGAGGGGGCCAA	0.741													4	11					0	0	0	0	A	39883764	G	A	39883764	3	1	275	1	0	0	0	0	1	0	0	0	9613	1291	45	2	414	2	MGAT3	22	39883764	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	15968152	39883764	11420802	255	49468											
MKL1	57591	broad.mit.edu	37	chr22	40815316	40815316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgataggctcgaaggcGctcaatcagctcagttttgg	8	12	12	9	2	4	1	3	1	1	0	5	2	4	1	0	3	1	4	0	3	3	4			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:40815316G>A	ENST00000396617.3	-	12	1716	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	MKL1_ENST00000355630.3_Missense_Mutation_p.R376C|MKL1_ENST00000407029.1_Missense_Mutation_p.R376C|MKL1_ENST00000402042.1_Missense_Mutation_p.R326C			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	376	SAP.				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						GCTCGAAGGCGCTCAATCAGC	0.607			T	RBM15	acute megakaryocytic leukemia								8	26					0	0	0	0	A	40815316	G	A	40815316	3	1	275	1	0	0	0	0	1	0	0	0	9670	1087	38	1	1685	1	MKL1	22	40815316	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	931552	40815316	10489250	256	49469											
EP300	2033	broad.mit.edu	37	chr22	41573028	41573028	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagcataccaagggttgCaaacggaaaaccaatggcgg	14	5	13	9	2	0	0	0	0	0	0	0	1	0	1	2	4	6	4	2	4	6	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:41573028C>A	ENST00000263253.7	+	31	6532	c.5313C>A	c.(5311-5313)tgC>tgA	p.C1771*	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1771	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAAGGGTTGCAAACGGAAAA	0.567			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				9	38					3.86212e-05	4.22194e-05	1	0	A	41573028	C	A	41573028	4	1	275	1	0	0	0	0	0	1	0	0	5186	718	25	4	5435	4	EP300	22	41573028	Nonsense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	757712	41573028	9731538	257	49470											
XRCC6	2547	broad.mit.edu	37	chr22	42033722	42033722	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggacctcagggttcactttGaggaatccagcaagctagaa	13	8	11	9	0	2	2	2	1	0	1	3	4	3	4	2	3	2	3	2	3	4	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:42033722G>C	ENST00000359308.4	+	5	1355	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	XRCC6_ENST00000405878.1_Missense_Mutation_p.E234Q|XRCC6_ENST00000360079.3_Missense_Mutation_p.E234Q|XRCC6_ENST00000402580.3_Missense_Mutation_p.E193Q|XRCC6_ENST00000405506.1_Missense_Mutation_p.E184Q|XRCC6_ENST00000428575.2_Missense_Mutation_p.E101Q			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	234					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGTTCACTTTGAGGAATCCAG	0.537								Non-homologous end-joining					3	18					0	0	0	0	C	42033722	G	C	42033722	3	2	275	1	0	0	0	0	1	0	0	0	17553	1291	45	2	718	2	XRCC6	22	42033722	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	460694	42033722	9270844	258	49471											
TRMU	55687	broad.mit.edu	37	chr22	46751462	46751462	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gatgatggagtgccacttccGattccgccaccagatggcac	9	8	11	13	2	0	2	0	1	0	1	2	5	2	3	5	2	1	1	5	2	0	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:46751462G>C	ENST00000290846.4	+	9	1335	c.995G>C	c.(994-996)cGa>cCa	p.R332P	TRMU_ENST00000381019.3_Missense_Mutation_p.R332P	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	332						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TGCCACTTCCGATTCCGCCAC	0.642											OREG0026654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	33					0	0	0	0	C	46751462	G	C	46751462	3	2	275	1	0	0	0	0	1	0	0	0	16666	1058	37	3	1029	3	TRMU	22	46751462	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	4717740	46751462	4553104	259	49472											
TRMU	55687	broad.mit.edu	37	chr22	46752850	46752850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagagctgggatggccactGagagccccagtgacagccca	10	4	14	13	0	0	3	0	2	0	2	0	5	0	4	4	2	3	2	4	2	0	0			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:46752850G>A	ENST00000290846.4	+	11	1553	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	TRMU_ENST00000381019.3_Silent_p.*377*	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	405						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GATGGCCACTGAGAGCCCCAG	0.632													15	39					0	0	0	0	A	46752850	G	A	46752850	3	1	275	1	0	0	0	0	1	0	0	0	16666	1291	45	2	1255	2	TRMU	22	46752850	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	1388	46752850	4551716	260	49473											
MXRA5	25878	broad.mit.edu	37	chrX	3241681	3241681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagcctttgcacctgggCgtctgcctcttttggatggc	6	12	12	11	1	2	1	0	0	2	1	2	2	2	2	3	3	3	1	3	3	1	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:3241681C>T	ENST00000217939.6	-	5	2199	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	682						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCACCTGGGCGTCTGCCTCT	0.532													27	71					0	0	0	0	T	3241681	C	T	3241681	3	4	275	1	0	0	0	0	1	0	0	0	10073	768	27	1	6453	1	MXRA5	23	3241681	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08		3241681	152028879	261	49474											
KAL1	3730	broad.mit.edu	37	chrX	8522000	8522000	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgtttatgtaccttctgtCttcttccagtagactttaac	9	18	5	9	0	3	1	0	0	3	1	4	1	4	1	2	0	2	3	2	0	5	9			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:8522000C>G	ENST00000262648.3	-	9	1496	c.1347G>C	c.(1345-1347)aaG>aaC	p.K449N		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	449	Fibronectin type-III 3.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TACCTTCTGTCTTCTTCCAGT	0.413													5	21					0	0	0	0	G	8522000	C	G	8522000	3	3	275	1	0	0	0	0	1	0	0	0	8027	912	32	2	719	2	KAL1	23	8522000	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	5280319	8522000	146748560	262	49475											
DMD	1756	broad.mit.edu	37	chrX	31986549	31986549	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatactggcatctgtttttGaggattgctgaattatttct	9	18	9	5	0	2	2	0	2	2	0	2	4	2	3	0	2	2	3	0	2	4	6			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:31986549G>C	ENST00000357033.4	-	45	6727	c.6521C>G	c.(6520-6522)tCa>tGa	p.S2174*	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.S2170*|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2174					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTGTTTTTGAGGATTGCTG	0.458													23	72					0	0	0	0	C	31986549	G	C	31986549	4	2	275	1	0	0	0	0	0	1	0	0	4617	1294	45	2	4824	2	DMD	23	31986549	Nonsense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	23464549	31986549	123284011	263	49476											
CFP	5199	broad.mit.edu	37	chrX	47486681	47486681	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtggggtccaccgtggcAggaggctgagcagggggtcc	5	7	19	10	2	0	1	0	1	0	0	3	2	2	2	3	7	1	3	3	7	0	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:47486681A>G	ENST00000247153.3	-	6	866	c.625T>C	c.(625-627)Tgc>Cgc	p.C209R	CFP_ENST00000377005.2_Missense_Mutation_p.C209R|CFP_ENST00000396992.3_Missense_Mutation_p.C209R	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	209	TSP type-1 3.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCACCGTGGCAGGAGGCTGAG	0.667													3	14					0	0	0	0	G	47486681	A	G	47486681	3	3	275	1	0	0	0	0	1	0	0	0	3322	188	7	5	804	5	CFP	23	47486681	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08	15500132	47486681	107783879	264	49477											
ZNF630	57232	broad.mit.edu	37	chrX	47918145	47918145	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctccagtatgacctctCtgatgtagaatgagatgtga	10	14	9	8	0	2	5	0	4	2	2	5	6	3	5	2	0	0	2	2	0	3	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:47918145C>G	ENST00000276054.4	-	5	2248	c.1314G>C	c.(1312-1314)caG>caC	p.Q438H	ZNF630_ENST00000442455.3_Missense_Mutation_p.Q548H|ZNF630_ENST00000409324.3_Missense_Mutation_p.Q562H|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TATGACCTCTCTGATGTAGAA	0.448													10	11					0	0	0	0	G	47918145	C	G	47918145	3	3	275	1	0	0	0	0	1	0	0	0	18149	912	32	2	291	2	ZNF630	23	47918145	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	431464	47918145	107352415	265	49478											
WAS	7454	broad.mit.edu	37	chrX	48542320	48542320	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagaacataccctccaccctCctccaggaccacgagaacca	13	4	5	19	1	0	2	0	0	0	2	3	4	3	3	7	1	3	0	7	1	3	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:48542320C>G	ENST00000376701.4	+	1	153	c.78C>G	c.(76-78)ctC>ctG	p.L26L	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	26					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCTCCACCCTCCTCCAGGACC	0.617			"Mis, N, F, S"			lymphoma							16	50					0	0	0	0	G	48542320	C	G	48542320	2	3	275	1	0	0	0	0	0	0	0	1	17347	842	30	2		2	WAS	23	48542320	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	624175	48542320	106728240	266	49479											
BRWD3	254065	broad.mit.edu	37	chrX	79980467	79980467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgaattttggtcccccggtCaaggtcccaaataaaaatgt	12	10	8	11	2	1	0	1	0	0	0	3	1	3	0	4	3	0	0	4	3	6	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:79980467C>T	ENST00000373275.4	-	15	1702	c.1486G>A	c.(1486-1488)Gac>Aac	p.D496N		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	496										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTCCCCCGGTCAAGGTCCCAA	0.388													8	14					0	0	0	0	T	79980467	C	T	79980467	3	4	275	1	0	0	0	0	1	0	0	0	1534	826	29	2	4030	2	BRWD3	23	79980467	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	31438147	79980467	75290093	267	49480											
ZNF711	7552	broad.mit.edu	37	chrX	84525039	84525039	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggactcagcattagaaagcaGaagtagtacagcagcacagt	16	6	11	8	0	1	2	1	0	0	2	1	3	1	3	0	1	5	6	0	1	5	3			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:84525039G>C	ENST00000360700.4	+	9	2019	c.1133G>C	c.(1132-1134)aGa>aCa	p.R378T	ZNF711_ENST00000542798.1_Missense_Mutation_p.R174T|ZNF711_ENST00000276123.3_Missense_Mutation_p.R332T|ZNF711_ENST00000395402.1_Missense_Mutation_p.R340T|ZNF711_ENST00000373165.3_Missense_Mutation_p.R332T			Q9Y462	ZN711_HUMAN	zinc finger protein 711	332					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TTAGAAAGCAGAAGTAGTACA	0.333													8	30					0	0	0	0	C	84525039	G	C	84525039	3	2	275	1	0	0	0	0	1	0	0	0	18211	942	33	2	1017	2	ZNF711	23	84525039	Missense_Mutation	SNP	G	TCGA-CV-7095-01A-21D-2012-08	4544572	84525039	70745521	268	49481											
ZNF449	203523	broad.mit.edu	37	chrX	134494925	134494925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagccatacaagtgtaCtcattgttctaaaagcttca	14	11	8	8	0	3	1	2	0	1	1	3	2	3	1	1	1	4	3	1	1	6	6			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:134494925C>T	ENST00000339249.4	+	5	1621	c.1481C>T	c.(1480-1482)aCt>aTt	p.T494I		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	494					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TACAAGTGTACTCATTGTTCT	0.393													92	135					0	0	0	0	T	134494925	C	T	134494925	3	4	275	1	0	0	0	0	1	0	0	0	18015	565	20	4	1495	4	ZNF449	23	134494925	Missense_Mutation	SNP	C	TCGA-CV-7095-01A-21D-2012-08	49969886	134494925	20775635	269	49482											
GPR112	139378	broad.mit.edu	37	chrX	135431707	135431707	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgtcaggaattcttcctAaccatgggctttctgagaac	10	13	8	10	0	3	1	1	1	2	1	4	3	4	2	2	2	2	1	2	2	4	5			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:135431707A>T	ENST00000394143.1	+	6	6133	c.5842A>T	c.(5842-5844)Aac>Tac	p.N1948Y	GPR112_ENST00000287534.4_Missense_Mutation_p.N1885Y|GPR112_ENST00000412101.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000394141.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000370652.1_Missense_Mutation_p.N1948Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1948					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATTCTTCCTAACCATGGGCT	0.418													6	147					0	0	0	0	T	135431707	A	T	135431707	3	4	275	1	0	0	0	0	1	0	0	0	6678	362	13	5	5852	5	GPR112	23	135431707	Missense_Mutation	SNP	A	TCGA-CV-7095-01A-21D-2012-08	936782	135431707	19838853	270	49483											
MAGEC1	9947	broad.mit.edu	37	chrX	140995473	140995473	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccccagagtttccctgaGagtcctcagagtcctcctga	7	11	8	15	0	1	4	1	2	0	3	6	5	6	4	6	0	0	1	6	0	0	2			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:140995473G>A	ENST00000285879.4	+	4	2569	c.2283G>A	c.(2281-2283)gaG>gaA	p.E761E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	761							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTCCCTGAGAGTCCTCAGA	0.542										HNSCC(15;0.026)			82	238					0	0	0	0	A	140995473	G	A	140995473	2	1	275	1	0	0	0	0	0	0	0	1	9249	933	33	2		2	MAGEC1	23	140995473	Silent	SNP	G	TCGA-CV-7095-01A-21D-2012-08	5563766	140995473	14275087	271	49484											
CTAG2	30848	broad.mit.edu	37	chrX	153880412	153880412	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggctgggcttagcgcctCtgccctgagggagcctgagc	5	7	15	14	1	1	2	0	2	1	0	1	3	1	3	4	3	4	2	4	3	1	1			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:153880412C>T	ENST00000369585.3	-	3	586	c.534G>A	c.(532-534)caG>caA	p.Q178Q	CTAG2_ENST00000247306.4_3'UTR	NM_172377.3	NP_758965.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	0						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTAGCGCCTCTGCCCTGAGG	0.602													22	56					0	0	0	0	T	153880412	C	T	153880412	2	4	275	1	0	0	0	0	0	0	0	1	4023	912	32	2		2	CTAG2	23	153880412	Silent	SNP	C	TCGA-CV-7095-01A-21D-2012-08	12884939	153880412	1390148	272	49485											
KIF17	57576	broad.mit.edu	37	chr1	21013938	21013938	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcctggccacggtggaGgagagtctggccagcttggc	5	9	16	11	1	2	1	0	0	2	1	3	3	3	2	3	6	1	1	3	6	0	1			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:21013938G>A	ENST00000247986.2	-	8	2191	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S	KIF17_ENST00000375044.1_Silent_p.S527S|KIF17_ENST00000400463.3_Silent_p.S627S|KIF17_ENST00000490034.1_Intron			Q9P2E2	KIF17_HUMAN	kinesin family member 17	627					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCACGGTGGAGGAGAGTCTGG	0.637													34	72					0	0	0	0	A	21013938	G	A	21013938	2	1	276	1	0	0	0	0	0	0	0	1	8330	987	35	4		4	KIF17	1	21013938	Silent	SNP	G	TCGA-CV-7097-01A-11D-2012-08		21013938	228236683	1	49486											
BMP8B	656	broad.mit.edu	37	chr1	40228830	40228830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggaaggagcactccccCtcacagtaataggccgagta	12	6	12	11	1	1	0	1	0	0	0	2	3	2	2	3	3	1	3	3	3	4	3			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:40228830C>A	ENST00000372827.3	-	6	1368	c.993G>T	c.(991-993)gaG>gaT	p.E331D	PPIE_ENST00000356511.2_Intron|PPIE_ENST00000372830.1_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	331					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCACTCCCCCTCACAGTAAT	0.632													6	83					0.00198382	0.00526999	1	0	A	40228830	C	A	40228830	3	1	276	1	0	0	0	0	1	0	0	0	1472	680	24	4	223	4	BMP8B	1	40228830	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	19214892	40228830	209021791	2	49487											
C1orf168	199920	broad.mit.edu	37	chr1	57257788	57257788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggggctgcttgccgggCtcctctcaggaggtgggttt	3	10	18	10	1	1	0	1	0	1	0	3	1	2	1	2	7	2	5	2	7	0	2			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:57257788C>T	ENST00000343433.6	-	2	778	c.698G>A	c.(697-699)aGc>aAc	p.S233N	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	233										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						GCTTGCCGGGCTCCTCTCAGG	0.532													38	80					0	0	0	0	T	57257788	C	T	57257788	3	4	276	1	0	0	0	0	1	0	0	0	2031	797	28	4	1564	4	C1orf168	1	57257788	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	17028958	57257788	191992833	3	49488											
SERBP1	26135	broad.mit.edu	37	chr1	67889975	67889975	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtcactgtaattataagaTatttgtttctgaatgtattt	13	19	6	3	0	2	2	1	1	1	1	2	2	2	2	0	0	0	3	0	0	7	8			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:67889975T>C	ENST00000370995.2	-	5	811	c.726A>G	c.(724-726)atA>atG	p.I242M	SERBP1_ENST00000370994.4_Intron|SERBP1_ENST00000484880.1_Intron|SERBP1_ENST00000361219.6_Intron|SERBP1_ENST00000370990.5_Missense_Mutation_p.I236M			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	242					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						AATTATAAGATATTTGTTTCT	0.363													21	46					0	0	0	0	C	67889975	T	C	67889975	3	2	276	1	0	0	0	0	1	0	0	0	14162	1396	49	5	516	5	SERBP1	1	67889975	Missense_Mutation	SNP	T	TCGA-CV-7097-01A-11D-2012-08	10632187	67889975	181360646	4	49489											
AMY2B	280	broad.mit.edu	37	chr1	104115755	104115755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagtgcaggaacaagcagtaCctgtggaagttacttcaacc	13	8	11	9	0	1	0	1	0	0	0	1	3	1	2	2	2	6	4	2	2	6	3			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:104115755C>T	ENST00000361355.4	+	5	1002	c.386C>T	c.(385-387)aCc>aTc	p.T129I	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	129					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ACAAGCAGTACCTGTGGAAGT	0.403													117	411					0	0	0	0	T	104115755	C	T	104115755	3	4	276	1	0	0	0	0	1	0	0	0	595	507	18	4	396	4	AMY2B	1	104115755	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	36225780	104115755	145134866	5	49490											
PRMT6	55170	broad.mit.edu	37	chr1	107600207	107600207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccatgcatggctttgccatCtggttccaggtgaccttccc	5	12	9	15	0	1	1	0	1	1	0	3	1	3	1	5	3	2	3	5	3	0	3			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:107600207C>G	ENST00000361318.5	+	1	941	c.693C>G	c.(691-693)atC>atG	p.I231M	PRMT6_ENST00000370078.1_Missense_Mutation_p.I290M	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	290					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GCTTTGCCATCTGGTTCCAGG	0.662													15	36					0	0	0	0	G	107600207	C	G	107600207	3	3	276	1	0	0	0	0	1	0	0	0	12620	903	32	2	872	2	PRMT6	1	107600207	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	3484452	107600207	141650414	6	49491											
HSD3B1	3283	broad.mit.edu	37	chr1	120050217	120050217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttggacaaggccttcGgaccagaattgagagaggaa	12	7	15	7	1	1	3	0	1	1	2	2	7	1	6	2	5	0	0	2	5	3	3	rs141328314		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:120050217G>A	ENST00000235547.6	+	2	263	c.124G>A	c.(124-126)Gga>Aga	p.G42R	HSD3B1_ENST00000369413.3_Missense_Mutation_p.G40R|HSD3B1_ENST00000528909.1_Missense_Mutation_p.G40R	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	40					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.G40I(1)|p.G40R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CAAGGCCTTCGGACCAGAATT	0.507													23	71					0	0	0	0	A	120050217	G	A	120050217	3	1	276	1	0	0	0	0	1	0	0	0	7440	1117	39	1	120	1	HSD3B1	1	120050217	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	12450010	120050217	129200404	7	49492											
ARNT	405	broad.mit.edu	37	chr1	150795676	150795676	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtataatacatacttcacaTtggtgttggtacagatgatg	12	15	9	5	0	1	2	1	1	0	1	1	2	1	2	0	2	3	3	0	2	5	8			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:150795676T>C	ENST00000358595.5	-	14	1588	c.1388A>G	c.(1387-1389)aAt>aGt	p.N463S	ARNT_ENST00000505755.1_Missense_Mutation_p.N448S|ARNT_ENST00000354396.2_Missense_Mutation_p.N463S|ARNT_ENST00000515192.1_Missense_Mutation_p.N449S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	463	PAC.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATACTTCACATTGGTGTTGGT	0.408			T	ETV6	AML								4	52					0	0	0	0	C	150795676	T	C	150795676	3	2	276	1	0	0	0	0	1	0	0	0	969	1493	52	5	1017	5	ARNT	1	150795676	Missense_Mutation	SNP	T	TCGA-CV-7097-01A-11D-2012-08	30745459	150795676	98454945	8	49493											
FLG	2312	broad.mit.edu	37	chr1	152279921	152279921	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtccagatctatctaccaAttgctcgtagtgggatccct	8	13	9	11	1	2	1	0	0	2	1	5	2	4	2	3	1	2	2	3	1	4	4			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:152279921A>G	ENST00000368799.1	-	3	7476	c.7441T>C	c.(7441-7443)Ttg>Ctg	p.L2481L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2481	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTATCTACCAATTGCTCGTAG	0.567									Ichthyosis				5	534					0	0	0	0	G	152279921	A	G	152279921	2	3	276	1	0	0	0	0	0	0	0	1	5967	98	4	5		5	FLG	1	152279921	Silent	SNP	A	TCGA-CV-7097-01A-11D-2012-08	1484245	152279921	96970700	9	49494											
PEAR1	375033	broad.mit.edu	37	chr1	156874633	156874633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggagggcccccatacttgCccccagcccacgtgagtgct	6	7	12	16	1	0	1	0	1	0	0	0	2	0	2	5	2	4	1	5	2	1	2			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:156874633C>T	ENST00000338302.3	+	4	420	c.195C>T	c.(193-195)tgC>tgT	p.C65C	PEAR1_ENST00000292357.7_Silent_p.C65C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	65	EMI.					integral to membrane				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)					CCCATACTTGCCCCCAGCCCA	0.657													12	54					0	0	0	0	T	156874633	C	T	156874633	2	4	276	1	0	0	0	0	0	0	0	1	11783	747	26	4		4	PEAR1	1	156874633	Silent	SNP	C	TCGA-CV-7097-01A-11D-2012-08	4594712	156874633	92375988	10	49495											
CFHR4	10877	broad.mit.edu	37	chr1	196876014	196876014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtgatatgcctgtttttGagaattccagagccaagagt	10	15	10	6	0	0	4	0	2	0	3	1	5	1	4	3	0	2	1	3	0	3	5			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:196876014G>A	ENST00000367416.2	+	4	597	c.460G>A	c.(460-462)Gag>Aag	p.E154K	CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GCCTGTTTTTGAGAATTCCAG	0.373													8	23					0	0	0	0	A	196876014	G	A	196876014	3	1	276	1	0	0	0	0	1	0	0	0	3316	1305	45	2		2	CFHR4	1	196876014	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	40001381	196876014	52374607	11	49496											
LGR6	59352	broad.mit.edu	37	chr1	202249913	202249913	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccttcccgtgcaggcatTtgcataacaaccgcatccag	9	11	7	14	2	0	0	0	0	0	0	3	0	3	0	4	1	4	4	4	1	2	4			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:202249913T>G	ENST00000367278.3	+	6	738	c.649T>G	c.(649-651)Ttg>Gtg	p.L217V	LGR6_ENST00000255432.7_Missense_Mutation_p.L165V|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	217						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTGCAGGCATTTGCATAACAA	0.562													30	64					0	0	0	0	G	202249913	T	G	202249913	3	3	276	1	0	0	0	0	1	0	0	0	8812	1838	64	5	818	5	LGR6	1	202249913	Missense_Mutation	SNP	T	TCGA-CV-7097-01A-11D-2012-08	5373899	202249913	47000708	12	49497											
TRAF5	7188	broad.mit.edu	37	chr1	211534067	211534067	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaggaaaacttgtgtccTgaatacccagtattttgtcc	11	13	8	9	0	0	2	0	2	0	0	2	3	2	3	3	1	2	1	3	1	5	5			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:211534067T>C	ENST00000261464.5	+	6	621	c.567T>C	c.(565-567)ccT>ccC	p.P189P	TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Silent_p.P189P|TRAF5_ENST00000336184.2_Silent_p.P189P|TRAF5_ENST00000427925.2_Intron	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	189					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		ACTTGTGTCCTGAATACCCAG	0.373													3	40					0	0	0	0	C	211534067	T	C	211534067	2	2	276	1	0	0	0	0	0	0	0	1	16539	1567	55	5		5	TRAF5	1	211534067	Silent	SNP	T	TCGA-CV-7097-01A-11D-2012-08	9284154	211534067	37716554	13	49498											
ZNF124	7678	broad.mit.edu	37	chr1	247320151	247320151	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacatggatagggttcttcaCcagcatgagcctttatatgt	10	14	9	8	0	2	1	1	1	1	0	2	2	2	2	2	2	3	2	2	2	4	7			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:247320151C>G	ENST00000340684.6	-	4	725	c.587G>C	c.(586-588)gGt>gCt	p.G196A	ZNF124_ENST00000543802.2_Missense_Mutation_p.G258A|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GGGTTCTTCACCAGCATGAGC	0.438													32	68					0	0	0	0	G	247320151	C	G	247320151	3	3	276	1	0	0	0	0	1	0	0	0	17815	507	18	4	286	4	ZNF124	1	247320151	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	35786084	247320151	1930470	14	49499											
NCOA1	8648	broad.mit.edu	37	chr2	24929972	24929972	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacatctttacagggtatgAatgaaggacccaataactcc	15	10	7	9	0	1	2	0	2	1	0	2	3	2	3	2	2	3	1	2	2	7	5			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:24929972A>G	ENST00000405141.1	+	14	2344	c.1633A>G	c.(1633-1635)Aat>Gat	p.N545D	NCOA1_ENST00000407230.1_Missense_Mutation_p.N394D|NCOA1_ENST00000538539.1_Missense_Mutation_p.N545D|NCOA1_ENST00000406961.1_Missense_Mutation_p.N545D|NCOA1_ENST00000395856.3_Missense_Mutation_p.N545D|NCOA1_ENST00000348332.3_Missense_Mutation_p.N545D|NCOA1_ENST00000288599.5_Missense_Mutation_p.N545D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	545	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGGTATGAATGAAGGACC	0.423			T	PAX3	alveolar rhadomyosarcoma								9	38					0	0	0	0	G	24929972	A	G	24929972	3	3	276	1	0	0	0	0	1	0	0	0	10298	246	9	5	1667	5	NCOA1	2	24929972	Missense_Mutation	SNP	A	TCGA-CV-7097-01A-11D-2012-08		24929972	218269401	15	49500											
FIGN	55137	broad.mit.edu	37	chr2	164466120	164466120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatatcaagctccttttgaGatatgctaggctgaatcttg	11	14	8	8	0	2	2	1	2	1	1	3	3	3	2	1	1	2	3	1	1	5	6			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr2:164466120G>A	ENST00000333129.3	-	3	2536	c.2222C>T	c.(2221-2223)tCt>tTt	p.S741F	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	741						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTCCTTTTGAGATATGCTAGG	0.393													42	64					0	0	0	0	A	164466120	G	A	164466120	3	1	276	1	0	0	0	0	1	0	0	0	5936	942	33	2	61	2	FIGN	2	164466120	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	139536148	164466120	78733253	16	49501											
TTN	7273	broad.mit.edu	37	chr2	179595727	179595727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagtatattctccactatCtttcttttctgtagaaataa	13	17	4	7	0	4	1	0	0	4	1	5	2	4	1	1	0	0	2	1	0	7	9			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:179595727C>T	ENST00000589042.1	-	60	17889	c.17665G>A	c.(17665-17667)Gat>Aat	p.D5889N	TTN_ENST00000591111.1_Missense_Mutation_p.D5572N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4645N|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5572	Ig-like 40.						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)			TCTCCACTATCTTTCTTTTCT	0.378													87	179					0	0	0	0	T	179595727	C	T	179595727	3	4	276	1	0	0	0	0	1	0	0	0	16831	913	32	2	87076	2	TTN	2	179595727	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	15129607	179595727	63603646	17	49502											
FSIP2	401024	broad.mit.edu	37	chr2	186670771	186670771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagataaaaaagggaaagatGatgagatatacacacatttt	20	9	8	4	0	0	4	0	2	0	3	0	6	0	5	0	1	1	0	0	1	6	5			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:186670771G>A	ENST00000343098.5	+	17	17005	c.17005G>A	c.(17005-17007)Gat>Aat	p.D5669N	FSIP2_ENST00000424728.1_Missense_Mutation_p.D5580N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGGGAAAGATGATGAGATATA	0.274													38	80					0	0	0	0	A	186670771	G	A	186670771	3	1	276	1	0	0	0	0	1	0	0	0	6123	1290	45	2	17071	2	FSIP2	2	186670771	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	7075044	186670771	56528602	18	49503											
HDAC4	9759	broad.mit.edu	37	chr2	239988450	239988450	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggcagaaacacatgcttCcgaggcgtcgcaaatggcgg	12	5	13	11	4	0	1	0	0	0	1	2	2	1	1	1	4	2	3	1	4	3	1			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:239988450C>A	ENST00000345617.3	-	24	3747	c.2956G>T	c.(2956-2958)Gaa>Taa	p.E986*	HDAC4_ENST00000543185.1_Nonsense_Mutation_p.E570*	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	986	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACACATGCTTCCGAGGCGTCG	0.642													32	45					6.00712e-18	1.74207e-17	1	0	A	239988450	C	A	239988450	4	1	276	1	0	0	0	0	0	1	0	0	7059	864	30	2	314	2	HDAC4	2	239988450	Nonsense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	53317679	239988450	3210923	19	49504											
SLC22A14	9389	broad.mit.edu	37	chr3	38347632	38347632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtctctggagatgctgttaCgcagattgagggctgtccac	7	11	14	9	1	1	3	0	1	1	2	3	4	2	3	1	3	2	4	1	3	1	2	rs142344011	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:38347632C>T	ENST00000273173.4	+	1	206	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	SLC22A14_ENST00000448498.1_Missense_Mutation_p.R39C	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	39						integral to plasma membrane	organic cation transmembrane transporter activity	p.R39C(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GATGCTGTTACGCAGATTGAG	0.537													10	80					0	0	0	0	T	38347632	C	T	38347632	3	4	276	1	0	0	0	0	1	0	0	0	14533	536	19	1	117	1	SLC22A14	3	38347632	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08		38347632	159674798	20	49505											
XCR1	2829	broad.mit.edu	37	chr3	46062445	46062445	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccacaggcccctcagtagAaggaggcgccctcataggcg	9	4	13	15	3	2	1	2	0	0	1	2	2	2	2	4	4	0	1	4	4	3	2			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:46062445A>G	ENST00000309285.3	-	2	1351	c.995T>C	c.(994-996)tTc>tCc	p.F332S	XCR1_ENST00000542109.1_Missense_Mutation_p.F332S	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	332					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCTCAGTAGAAGGAGGCGCC	0.642													12	5					0	0	0	0	G	46062445	A	G	46062445	3	3	276	1	0	0	0	0	1	0	0	0	17521	246	9	5	10	5	XCR1	3	46062445	Missense_Mutation	SNP	A	TCGA-CV-7097-01A-11D-2012-08	7714813	46062445	151959985	21	49506											
HTR1F	3355	broad.mit.edu	37	chr3	88040372	88040372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttatctctatgcctcCtctattctggaggcaccaag	7	16	7	11	0	3	0	0	0	3	0	5	1	4	1	3	2	1	2	3	2	4	6			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:88040372C>T	ENST00000319595.4	+	1	527	c.473C>T	c.(472-474)cCt>cTt	p.P158L		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	158					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TCTATGCCTCCTCTATTCTGG	0.408													23	23					0	0	0	0	T	88040372	C	T	88040372	3	4	276	1	0	0	0	0	1	0	0	0	7493	681	24	4	475	4	HTR1F	3	88040372	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	41977927	88040372	109982058	22	49507											
DPPA2	151871	broad.mit.edu	37	chr3	109028057	109028057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagttgttgacaccagtccCgcaaagtgtcccgacacacc	10	7	9	15	3	0	1	0	1	0	0	2	3	2	1	4	0	0	3	4	0	1	2			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:109028057C>T	ENST00000478945.1	-	4	548	c.302G>A	c.(301-303)cGg>cAg	p.R101Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	101	SAP.					nucleus	nucleic acid binding	p.R101L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACACCAGTCCCGCAAAGTGTC	0.453													42	182					0	0	0	0	T	109028057	C	T	109028057	3	4	276	1	0	0	0	0	1	0	0	0	4770	652	23	1	614	1	DPPA2	3	109028057	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	20987685	109028057	88994373	23	49508											
BTLA	151888	broad.mit.edu	37	chr3	112198458	112198458	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacttgtttgtctatcttCaagttttacacatgttgttc	8	19	5	9	0	3	0	1	0	2	0	4	0	3	0	1	0	2	4	1	0	4	8			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:112198458C>A	ENST00000334529.5	-	2	449	c.247G>T	c.(247-249)Gaa>Taa	p.E83*	BTLA_ENST00000383680.4_Nonsense_Mutation_p.E83*	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	83	Ig-like V-type.				T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TGTCTATCTTCAAGTTTTACA	0.408													21	96					1.50039e-11	4.24501e-11	1	0	A	112198458	C	A	112198458	4	1	276	1	0	0	0	0	0	1	0	0	1567	835	29	2	638	2	BTLA	3	112198458	Nonsense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	3170401	112198458	85823972	24	49509											
STXBP5L	9515	broad.mit.edu	37	chr3	120998716	120998716	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagaagacagtactgttaAgcatggggaccattgaccta	14	9	10	8	0	0	3	0	1	0	2	0	4	0	4	2	2	3	3	2	2	5	5			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:120998716A>G	ENST00000273666.6	+	19	2294	c.2023A>G	c.(2023-2025)Agc>Ggc	p.S675G	STXBP5L_ENST00000472879.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S675G	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	675					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTACTGTTAAGCATGGGGAC	0.398													27	46					0	0	0	0	G	120998716	A	G	120998716	3	3	276	1	0	0	0	0	1	0	0	0	15447	72	3	5	2093	5	STXBP5L	3	120998716	Missense_Mutation	SNP	A	TCGA-CV-7097-01A-11D-2012-08	8800258	120998716	77023714	25	49510											
PLXND1	23129	broad.mit.edu	37	chr3	129324754	129324754	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtcgccgcgcgtgtcCagggagcggatggcgatctc	5	6	17	13	6	1	0	0	0	1	0	4	3	2	2	3	4	1	0	3	4	0	0			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:129324754C>T	ENST00000393239.1	-	1	907	c.729G>A	c.(727-729)ctG>ctA	p.L243L	PLXND1_ENST00000324093.4_Silent_p.L243L			Q9Y4D7	PLXD1_HUMAN	plexin D1	243	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CGCGCGTGTCCAGGGAGCGGA	0.647													12	18					0	0	0	0	T	129324754	C	T	129324754	2	4	276	1	0	0	0	0	0	0	0	1	12199	581	21	4		4	PLXND1	3	129324754	Silent	SNP	C	TCGA-CV-7097-01A-11D-2012-08	8326038	129324754	68697676	26	49511											
CPNE4	131034	broad.mit.edu	37	chr3	131254048	131254048	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtggggagttcatggtgcTagtgttctggaagattcata	8	14	15	4	0	3	1	2	0	1	1	3	3	3	3	0	4	1	3	0	4	3	5			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:131254048T>C	ENST00000512055.1	-	20	3791	c.1665A>G	c.(1663-1665)ctA>ctG	p.L555L	CPNE4_ENST00000512332.1_Silent_p.L573L|CPNE4_ENST00000511604.1_Silent_p.L555L|CPNE4_ENST00000503204.1_5'UTR|CPNE4_ENST00000502818.1_Silent_p.L573L|CPNE4_ENST00000429747.1_Silent_p.L555L			Q96A23	CPNE4_HUMAN	copine IV	555										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTCATGGTGCTAGTGTTCTGG	0.368													16	47					0	0	0	0	C	131254048	T	C	131254048	2	2	276	1	0	0	0	0	0	0	0	1	3844	1509	53	5		5	CPNE4	3	131254048	Silent	SNP	T	TCGA-CV-7097-01A-11D-2012-08	1929294	131254048	66768382	27	49512											
PLD1	5337	broad.mit.edu	37	chr3	171379875	171379875	+	Frame_Shift_Del	DEL	T	T	-																															tatagatatagtgcctgctgTtctctatcacatggacgtaa																										TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:171379875delT	ENST00000356327.5	-	19	2271	c.2201delA	c.(2200-2202)acfs	p.N734fs	PLD1_ENST00000351298.4_Frame_Shift_Del_p.N772fs|PLD1_ENST00000340989.4_Frame_Shift_Del_p.N772fs|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	772	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTGCCTGCTGTTCTCTATCAC	0.458													16	77	---	---	---	---					-	171379875	T	-	171379875	7	5	276	1	0	1	0	1	0	0	0	0	12117	1725	60	0	941	0	PLD1	3	171379875	Frame_Shift_Del	DEL	T	TCGA-CV-7097-01A-11D-2012-08	40125827	171379875	26642555	28	49513											
NAA15	80155	broad.mit.edu	37	chr4	140265372	140265372	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtggattatgaatatagTgaactactcttatatcagaa	16	13	8	4	0	2	3	1	2	1	1	2	4	2	4	0	2	2	0	0	2	10	6			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:140265372T>C	ENST00000296543.5	+	6	893	c.570T>C	c.(568-570)agT>agC	p.S190S	NAA15_ENST00000398947.1_Silent_p.S190S|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	190					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGAATATAGTGAACTACTCT	0.333													3	43					0	0	0	0	C	140265372	T	C	140265372	2	2	276	1	0	0	0	0	0	0	0	1	10188	1693	59	5		5	NAA15	4	140265372	Silent	SNP	T	TCGA-CV-7097-01A-11D-2012-08		140265372	50888904	29	49514											
SMAD1	4086	broad.mit.edu	37	chr4	146435852	146435852	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgatgaagaagaaaaatgGgcagagaaagctgttgatgc	16	6	15	4	1	0	5	0	2	0	3	0	7	0	5	0	2	2	3	0	2	5	1			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:146435852G>A	ENST00000515385.1	+	2	629	c.87G>A	c.(85-87)tgG>tgA	p.W29*	SMAD1_ENST00000515527.1_3'UTR|SMAD1_ENST00000394092.2_Nonsense_Mutation_p.W29*|SMAD1_ENST00000302085.4_Nonsense_Mutation_p.W29*|RP11-301H24.4_ENST00000513542.1_RNA			Q15797	SMAD1_HUMAN	SMAD family member 1	29	MH1.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AAGAAAAATGGGCAGAGAAAG	0.443													4	49					0	0	0	0	A	146435852	G	A	146435852	4	1	276	1	0	0	0	0	0	1	0	0	14845	1241	43	4	89	4	SMAD1	4	146435852	Nonsense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	6170480	146435852	44718424	30	49515											
GUCY1A3	2982	broad.mit.edu	37	chr4	156634710	156634710	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacactcgcttcgaccagcAgtgtggagagctggatgtct	8	10	13	10	2	1	1	0	0	1	1	3	4	1	2	1	2	3	4	1	2	1	2			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:156634710A>T	ENST00000296518.7	+	7	1756	c.1547A>T	c.(1546-1548)cAg>cTg	p.Q516L	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.Q258L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q516L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	516	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTCGACCAGCAGTGTGGAGAG	0.522													6	37					0	0	0	0	T	156634710	A	T	156634710	3	4	276	1	0	0	0	0	1	0	0	0	6944	188	7	5	1580	5	GUCY1A3	4	156634710	Missense_Mutation	SNP	A	TCGA-CV-7097-01A-11D-2012-08	10198858	156634710	34519566	31	49516											
CBR4	84869	broad.mit.edu	37	chr4	169927998	169927998	+	Missense_Mutation	SNP	T	T	C																															ccaagaggttagtatgaagcTgagataccatatcttcagtt																										TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:169927998T>C	ENST00000306193.3	-	3	476	c.308A>G	c.(307-309)cAg>cGg	p.Q103R	CBR4_ENST00000504480.1_Missense_Mutation_p.Q103R	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	103					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		AGTATGAAGCTGAGATACCAT	0.368													6	151					0	0	0	0	C	169927998	T	C	169927998	3	2	276	1	0	0	0	0	1	0	0	0	2735	1580	55	5	417	5	CBR4	4	169927998	Missense_Mutation	SNP	T	TCGA-CV-7097-01A-11D-2012-08	13293288	169927998	21226278	32	49517	385	3									
CBR4	84869	broad.mit.edu	37	chr4	169927999	169927999	+	Missense_Mutation	SNP	G	G	T																															caagaggttagtatgaagctGagataccatatcttcagttt																										TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:169927999G>T	ENST00000306193.3	-	3	475	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	CBR4_ENST00000504480.1_Missense_Mutation_p.Q103K	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	103					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		GTATGAAGCTGAGATACCATA	0.368													7	148					0.000274275	0.000734213	1	0	T	169927999	G	T	169927999	3	4	276	1	0	0	0	0	1	0	0	0	2735	1299	45	2	418	2	CBR4	4	169927999	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	1	169927999	21226277	33	49518	385	3									
CBR4	84869	broad.mit.edu	37	chr4	169928000	169928000	+	Silent	SNP	A	A	T																															aagaggttagtatgaagctgAgataccatatcttcagtttt																										TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:169928000A>T	ENST00000306193.3	-	3	474	c.306T>A	c.(304-306)tcT>tcA	p.S102S	CBR4_ENST00000504480.1_Silent_p.S102S	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	102					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TATGAAGCTGAGATACCATAT	0.368													8	146					0	0	0	0	T	169928000	A	T	169928000	2	4	276	1	0	0	0	0	0	0	0	1	2735	291	11	5		5	CBR4	4	169928000	Silent	SNP	A	TCGA-CV-7097-01A-11D-2012-08	1	169928000	21226276	34	49519	385	3									
HMGB2	3148	broad.mit.edu	37	chr4	174254247	174254247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttaggagcattggggtccTttttcttccccttcttatca	5	19	7	10	0	3	0	1	0	2	0	5	1	5	1	3	3	1	1	3	3	2	8			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:174254247T>C	ENST00000296503.5	-	3	1142	c.269A>G	c.(268-270)aAg>aGg	p.K90R	HMGB2_ENST00000438704.2_Missense_Mutation_p.K90R|HMGB2_ENST00000446922.2_Missense_Mutation_p.K90R			P26583	HMGB2_HUMAN	high mobility group box 2	90					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.K90R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ATTGGGGTCCTTTTTCTTCCC	0.398													3	166					0	0	0	0	C	174254247	T	C	174254247	3	2	276	1	0	0	0	0	1	0	0	0	7276	1609	56	5	372	5	HMGB2	4	174254247	Missense_Mutation	SNP	T	TCGA-CV-7097-01A-11D-2012-08	4326247	174254247	16900029	35	49520											
FBXO8	26269	broad.mit.edu	37	chr4	175162340	175162340	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctttggcgaatcatccagGatacccttggacataaagta	12	11	8	10	1	1	0	1	0	0	0	3	3	3	2	3	3	1	1	3	3	5	5			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:175162340G>T	ENST00000393674.2	-	4	1348	c.486C>A	c.(484-486)atC>atA	p.I162I	FBXO8_ENST00000503293.1_Silent_p.I121I	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	162	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		AATCATCCAGGATACCCTTGG	0.323													17	37					6.49762e-13	1.85342e-12	1	0	T	175162340	G	T	175162340	2	4	276	1	0	0	0	0	0	0	0	1	5806	1164	41	2		2	FBXO8	4	175162340	Silent	SNP	G	TCGA-CV-7097-01A-11D-2012-08	908093	175162340	15991936	36	49521											
PCDHA12	56137	broad.mit.edu	37	chr5	140256564	140256564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcggcgggtgggcgagcacGcactgtcgagctacgtgtcg	6	6	18	11	7	0	0	0	0	0	0	2	2	0	0	0	3	4	3	0	3	1	1			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr5:140256564G>A	ENST00000398631.2	+	1	1507	c.1507G>A	c.(1507-1509)Gca>Aca	p.A503T	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGCACGCACTGTCGAG	0.677													8	87					0	0	0	0	A	140256564	G	A	140256564	3	1	276	1	0	0	0	0	1	0	0	0	11593	1087	38	1	1509	1	PCDHA12	5	140256564	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08		140256564	40658696	37	49522											
KCNMB1	3779	broad.mit.edu	37	chr5	169810824	169810824	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgatgttggtctcaatCaggtggcacttggattcctg	6	14	11	10	0	2	1	2	1	1	0	5	2	4	2	2	4	0	2	2	4	1	3	rs143181866		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr5:169810824C>A	ENST00000274629.4	-	3	607	c.165G>T	c.(163-165)ctG>ctT	p.L55L	KCNMB1_ENST00000521859.1_Silent_p.L55L|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	55					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGGTCTCAATCAGGTGGCACT	0.567													8	16					5.18039e-06	1.40842e-05	1	0	A	169810824	C	A	169810824	2	1	276	1	0	0	0	0	0	0	0	1	8127	813	29	2		2	KCNMB1	5	169810824	Silent	SNP	C	TCGA-CV-7097-01A-11D-2012-08	29554260	169810824	11104436	38	49523											
HUS1B	135458	broad.mit.edu	37	chr6	656505	656505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaggcgcgcaggctgggcGgcaggcagtcccgccacact	6	3	17	15	5	0	0	0	0	0	0	1	1	1	1	2	6	0	4	2	6	0	0			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:656505G>A	ENST00000380907.2	-	1	458	c.440C>T	c.(439-441)cCg>cTg	p.P147L	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	147										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CAGGCTGGGCGGCAGGCAGTC	0.716													22	40					0	0	0	0	A	656505	G	A	656505	3	1	276	1	0	0	0	0	1	0	0	0	7513	1116	39	1	400	1	HUS1B	6	656505	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08		656505	170458562	39	49524											
ABCF1	23	broad.mit.edu	37	chr6	30551996	30551997	+	Frame_Shift_Ins	INS	-	-	C																															gcagatgagacaccagcagtINSccaggctgttcttcgagctg																										TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:30551996_30551997insC	ENST00000326195.8	+	13	1242_1243	c.1130_1131insC	c.(1129-1131)gcafs	p.A377fs	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Frame_Shift_Ins_p.A339fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	377	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						ACACCAGCAGTCCAGGCTGTTC	0.55													17	52	---	---	---	---					C	30551997	-	C	30551996	7	5	276	1	0	1	1	0	0	0	0	0	65	1667	58	0	1180	0	ABCF1	6	30551996	Frame_Shift_Ins	INS	-	TCGA-CV-7097-01A-11D-2012-08	29895491	30551996	140563071	40	49525											
HLA-DMA	3108	broad.mit.edu	37	chr6	32917064	32917064	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ataccacctgagcaaggcttCcggaagtagatgatgagaac	14	7	11	9	1	0	4	0	3	0	2	1	6	1	5	3	2	3	3	3	2	5	3			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:32917064C>T	ENST00000374843.4	-	4	850	c.765G>A	c.(763-765)cgG>cgA	p.R255R	HLA-DMA_ENST00000395305.3_Silent_p.R160R|HLA-DMA_ENST00000464392.1_5'UTR|HLA-DMA_ENST00000395303.3_Silent_p.R221R|XXbac-BPG181M17.5_ENST00000429234.1_Intron	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	255						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						AGCAAGGCTTCCGGAAGTAGA	0.567													20	44					0	0	0	0	T	32917064	C	T	32917064	2	4	276	1	0	0	0	0	0	0	0	1	7248	842	30	2		2	HLA-DMA	6	32917064	Silent	SNP	C	TCGA-CV-7097-01A-11D-2012-08	2365068	32917064	138198003	41	49526											
NCR2	9436	broad.mit.edu	37	chr6	41309847	41309847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgttctgtggactcctcGtagccaagagcctggtgctg	5	12	13	11	1	1	1	0	0	1	1	3	2	2	2	3	2	3	3	3	2	2	2	rs149275592	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:41309847G>A	ENST00000373083.4	+	4	826	c.604G>A	c.(604-606)Gta>Ata	p.V202I	NCR2_ENST00000373086.3_Missense_Mutation_p.V214I|NCR2_ENST00000373089.5_Missense_Mutation_p.V202I	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	202					cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.V202I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGGACTCCTCGTAGCCAAGAG	0.622													41	93					0	0	0	0	A	41309847	G	A	41309847	3	1	276	1	0	0	0	0	1	0	0	0	10308	1145	40	1	618	1	NCR2	6	41309847	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	8392783	41309847	129805220	42	49527											
ZNF318	24149	broad.mit.edu	37	chr6	43305058	43305058	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggtcgccactgtcatcAtctacttgcagaattgccac	10	10	9	12	1	3	2	2	0	1	2	4	2	3	2	2	1	3	1	2	1	2	3			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:43305058A>G	ENST00000361428.2	-	10	6755	c.6678T>C	c.(6676-6678)gaT>gaC	p.D2226D	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2226					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CACTGTCATCATCTACTTGCA	0.493													16	37					0	0	0	0	G	43305058	A	G	43305058	2	3	276	1	0	0	0	0	0	0	0	1	17931	214	8	5		5	ZNF318	6	43305058	Silent	SNP	A	TCGA-CV-7097-01A-11D-2012-08	1995211	43305058	127810009	43	49528											
COX7A2	1347	broad.mit.edu	37	chr6	75947582	75947582	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagagctcggttatttaTcagattactggtccatagag	13	12	10	6	1	1	4	1	0	0	4	3	4	2	4	1	2	2	2	1	2	6	5			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:75947582T>C	ENST00000472311.2	-	3	281	c.231A>G	c.(229-231)tgA>tgG	p.*77W	COX7A2_ENST00000370081.2_3'UTR|COX7A2_ENST00000509698.1_3'UTR|COX7A2_ENST00000460985.1_3'UTR|COX7A2_ENST00000370089.2_3'UTR|COX7A2_ENST00000230459.4_3'UTR			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	0						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						CGGTTATTTATCAGATTACTG	0.418													6	15					0	0	0	0	C	75947582	T	C	75947582	4	2	276	1	0	0	0	0	0	0	0	0	3810	1450	50	5		5	COX7A2	6	75947582	Nonstop_Mutation	SNP	T	TCGA-CV-7097-01A-11D-2012-08	32642524	75947582	95167485	44	49529											
RFX6	222546	broad.mit.edu	37	chr6	117237221	117237221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgccagtgtatcctggaCaatgcaattaatggaaactt	13	11	8	9	0	0	0	0	0	0	0	1	2	1	2	2	2	3	2	2	2	5	3			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:117237221C>A	ENST00000332958.2	+	8	847	c.831C>A	c.(829-831)gaC>gaA	p.D277E	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	277					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTATCCTGGACAATGCAATTA	0.343													13	52					5.50884e-06	1.4861e-05	1	0	A	117237221	C	A	117237221	3	1	276	1	0	0	0	0	1	0	0	0	13349	477	17	4	861	4	RFX6	6	117237221	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	41289639	117237221	53877846	45	49530											
SYNJ2	8871	broad.mit.edu	37	chr6	158517350	158517350	+	Frame_Shift_Del	DEL	A	A	-																															ggtgacaatcagtgaccaagAaaagaggacagcactgcagg																										TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:158517350delA	ENST00000355585.4	+	27	4520	c.4445delA	c.(4444-4446)gafs	p.E1482fs	SYNJ2_ENST00000367122.2_Frame_Shift_Del_p.E1437fs|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.E567fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1482							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGTGACCAAGAAAAGAGGACA	0.507													19	43	---	---	---	---					-	158517350	A	-	158517350	7	5	276	1	0	1	0	1	0	0	0	0	15544	246	9	0	4551	0	SYNJ2	6	158517350	Frame_Shift_Del	DEL	A	TCGA-CV-7097-01A-11D-2012-08	41280129	158517350	12597717	46	49531											
T	6862	broad.mit.edu	37	chr6	166571825	166571825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatggaaggtggcgacacaGgtgtccatgaggctatgagg	11	7	16	7	1	0	2	0	2	0	0	1	4	1	3	1	6	0	1	1	6	2	1			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:166571825G>T	ENST00000296946.2	-	9	1754	c.1286C>A	c.(1285-1287)cCt>cAt	p.P429H	T_ENST00000366871.3_Missense_Mutation_p.P371H	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	429					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGGCGACACAGGTGTCCATGA	0.612									Chordoma, Familial Clustering of				14	158					1.05317e-09	2.93203e-09	1	0	T	166571825	G	T	166571825	3	4	276	1	0	0	0	0	1	0	0	0	15579	1000	35	4	25	4	T	6	166571825	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	8054475	166571825	4543242	47	49532											
DDC	1644	broad.mit.edu	37	chr7	50605594	50605594	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttctccagctttctcattCaaaaatgcctttggtagttc	8	16	5	12	0	3	0	2	0	2	0	6	0	3	0	3	1	2	3	3	1	3	6			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:50605594C>G	ENST00000444124.2	-	4	599	c.399G>C	c.(397-399)ttG>ttC	p.L133F	DDC_ENST00000431062.1_Missense_Mutation_p.L133F|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000380984.4_Missense_Mutation_p.L133F|DDC_ENST00000426377.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.L133F|DDC_ENST00000489162.1_5'UTR	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	133	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CTTTCTCATTCAAAAATGCCT	0.572													22	64					0	0	0	0	G	50605594	C	G	50605594	3	3	276	1	0	0	0	0	1	0	0	0	4357	825	29	2	1087	2	DDC	7	50605594	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08		50605594	108533069	48	49533											
WBSCR17	64409	broad.mit.edu	37	chr7	70597919	70597920	+	Frame_Shift_Del	DEL	CG	CG	-																															cgccttccacgagatccggcCgcgcgccgaggtggccaacc																										TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:70597919_70597920delCG	ENST00000333538.5	+	1	765_766	c.131_132delCG	c.(130-132)cfs	p.P44fs		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	44						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAGATCCGGCCGCGCGCCGAGG	0.678													16	32	---	---	---	---					-	70597920	CG	-	70597919	7	5	276	1	0	1	0	1	0	0	0	0	17360	652	23	0	133	0	WBSCR17	7	70597919	Frame_Shift_Del	DEL	CG	TCGA-CV-7097-01A-11D-2012-08	19992325	70597919	88540744	49	49534											
ZNF804B	219578	broad.mit.edu	37	chr7	88963629	88963629	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaccactaccttttctcCacgttcaaagcaaggatggc	12	10	6	13	1	2	0	1	0	1	0	3	1	2	1	3	2	3	2	3	2	5	5			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:88963629C>G	ENST00000333190.4	+	4	1942	c.1333C>G	c.(1333-1335)Cac>Gac	p.H445D		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	445						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACCTTTTCTCCACGTTCAAAG	0.398										HNSCC(36;0.09)			3	59					0	0	0	0	G	88963629	C	G	88963629	3	3	276	1	0	0	0	0	1	0	0	0	18264	594	21	4	1347	4	ZNF804B	7	88963629	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	18365710	88963629	70175034	50	49535											
MUC17	140453	broad.mit.edu	37	chr7	100677784	100677784	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcctcccactgctgaaggTaccagcatgccaacctcaac	10	7	6	18	0	1	1	1	1	0	0	3	1	3	1	6	1	6	3	6	1	4	1			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:100677784T>C	ENST00000306151.4	+	3	3151	c.3087T>C	c.(3085-3087)ggT>ggC	p.G1029G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1029	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGCTGAAGGTACCAGCATGC	0.502													178	464					0	0	0	0	C	100677784	T	C	100677784	2	2	276	1	0	0	0	0	0	0	0	1	10044	1625	57	5		5	MUC17	7	100677784	Silent	SNP	T	TCGA-CV-7097-01A-11D-2012-08	11714155	100677784	58460879	51	49536											
TRPV6	55503	broad.mit.edu	37	chr7	142569486	142569486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatattcccagctctcccCgtcctccagacccctgttga	6	11	6	18	1	1	3	0	2	1	1	5	3	4	3	7	0	1	2	7	0	1	3			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:142569486C>T	ENST00000359396.3	-	15	2397	c.2152G>A	c.(2152-2154)Ggg>Agg	p.G718R		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	718					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGCTCTCCCCGTCCTCCAGA	0.527													26	76					0	0	0	0	T	142569486	C	T	142569486	3	4	276	1	0	0	0	0	1	0	0	0	16695	652	23	1	29	1	TRPV6	7	142569486	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	41891702	142569486	16569177	52	49537											
WDR60	55112	broad.mit.edu	37	chr7	158695196	158695196	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaagaaattcaaagagctAttaatgcagaaaatgaaagg	21	8	8	4	0	1	4	1	1	0	3	1	4	1	4	0	1	3	2	0	1	9	4			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:158695196A>T	ENST00000407559.3	+	10	1425	c.1267A>T	c.(1267-1269)Att>Ttt	p.I423F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	423										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCAAAGAGCTATTAATGCAGA	0.368													19	67					0	0	0	0	T	158695196	A	T	158695196	3	4	276	1	0	0	0	0	1	0	0	0	17407	449	16	5	1305	5	WDR60	7	158695196	Missense_Mutation	SNP	A	TCGA-CV-7097-01A-11D-2012-08	16125710	158695196	443467	53	49538											
DMRT3	58524	broad.mit.edu	37	chr9	990054	990054	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttccagatttgactgaagaAcgacttggagacggcaagtc	12	10	11	8	2	0	5	0	2	0	3	2	7	1	5	1	2	1	1	1	2	3	3			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr9:990054A>G	ENST00000190165.2	+	2	506	c.468A>G	c.(466-468)gaA>gaG	p.E156E		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	156					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGACTGAAGAACGACTTGGAG	0.478													10	79					0	0	0	0	G	990054	A	G	990054	2	3	276	1	0	0	0	0	0	0	0	1	4624	40	2	5		5	DMRT3	9	990054	Silent	SNP	A	TCGA-CV-7097-01A-11D-2012-08		990054	140223377	54	49539											
IFNA13	3447	broad.mit.edu	37	chr9	21367983	21367983	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagcaccaccagggccatCagtaaagcaaagggcgaggc	13	3	13	12	1	1	1	1	1	0	0	1	2	1	1	3	3	2	3	3	3	3	1	rs147549496	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr9:21367983C>T	ENST00000449498.1	-	1	92	c.27G>A	c.(25-27)ctG>ctA	p.L9L		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	8					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		CCAGGGCCATCAGTAAAGCAA	0.547													78	49					0	0	0	0	T	21367983	C	T	21367983	2	4	276	1	0	0	0	0	0	0	0	1	7586	813	29	2		2	IFNA13	9	21367983	Silent	SNP	C	TCGA-CV-7097-01A-11D-2012-08	20377929	21367983	119845448	55	49540											
ODF2	4957	broad.mit.edu	37	chr9	131233667	131233667	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggaggaggtggcccaCgaactggctgagactgagca	10	5	17	9	1	0	2	0	2	0	1	0	7	0	4	1	5	3	3	1	5	1	0			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr9:131233667C>T	ENST00000303890.5	+	8	1014	c.429C>T	c.(427-429)caC>caT	p.H143H	ODF2_ENST00000448249.3_Silent_p.H86H|ODF2_ENST00000434106.2_Silent_p.H167H|ODF2_ENST00000372791.3_Silent_p.H148H|ODF2_ENST00000372807.5_Silent_p.H162H|ODF2_ENST00000372796.4_Silent_p.H167H|ODF2_ENST00000444119.2_Silent_p.H143H|ODF2_ENST00000546203.1_Silent_p.H148H|ODF2_ENST00000351030.3_Silent_p.H162H|ODF2_ENST00000393533.2_Silent_p.H167H|ODF2_ENST00000372814.3_Silent_p.H211H|ODF2_ENST00000535026.1_Intron|RP11-339B21.9_ENST00000420801.1_RNA	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	167					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGGTGGCCCACGAACTGGCTG	0.577													32	41					0	0	0	0	T	131233667	C	T	131233667	2	4	276	1	0	0	0	0	0	0	0	1	10898	535	19	1		1	ODF2	9	131233667	Silent	SNP	C	TCGA-CV-7097-01A-11D-2012-08	109865684	131233667	9979764	56	49541											
LCNL1	401562	broad.mit.edu	37	chr9	139879316	139879316	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacccagacacccccgcttCgggtctgggatgtcacccct	7	7	10	17	2	2	2	1	0	1	2	3	3	2	3	5	2	0	1	5	2	0	1			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr9:139879316C>T	ENST00000408973.2	+	3	942	c.348C>T	c.(346-348)ttC>ttT	p.F116F	LCNL1_ENST00000432827.1_Intron	NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	116							binding										ACCCCCGCTTCGGGTCTGGGA	0.692													4	1					0	0	0	0	T	139879316	C	T	139879316	2	4	276	1	0	0	0	0	0	0	0	1	8741	883	31	1		1	LCNL1	9	139879316	Silent	SNP	C	TCGA-CV-7097-01A-11D-2012-08	8645649	139879316	1334115	57	49542											
TSPAN14	81619	broad.mit.edu	37	chr10	82249069	82249069	+	Splice_Site	DEL	G	G	-																															cagctacaacatcatcttctGggtaagtggatgagagctgc																										TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr10:82249069delG	ENST00000429989.2	+	2	303	c.81_splice	c.e2+1	p.W27_splice	TSPAN14_ENST00000341863.6_Splice_Site_p.W27_splice|TSPAN14_ENST00000481124.1_Splice_Site_p.W27_splice|TSPAN14_ENST00000372158.1_Splice_Site_p.W27_splice|TSPAN14_ENST00000372164.3_Splice_Site_p.W27_splice|TSPAN14_ENST00000372156.1_Splice_Site_p.W27_splice	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	27						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			ATCATCTTCTGGGTAAGTGGA	0.428													2	4	---	---	---	---					-	82249069	G	-	82249069	8	5	276	1	0	1	0	1	0	0	1	0	16733	1362	47	0	82	0	TSPAN14	10	82249069	Splice_Site	DEL	G	TCGA-CV-7097-01A-11D-2012-08		82249069	53285678	58	49543											
OR52E2	119678	broad.mit.edu	37	chr11	5080067	5080067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcacatttcggccaaagCgatgagtcataaaggaaaag	15	6	13	7	2	1	1	1	1	0	0	2	3	1	2	1	4	1	1	1	4	5	2			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:5080067C>T	ENST00000321522.2	-	1	790	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	264			R -> C (in dbSNP:rs2500052).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCGGCCAAAGCGATGAGTCAT	0.473													6	75					0	0	0	0	T	5080067	C	T	5080067	3	4	276	1	0	0	0	0	1	0	0	0	11186	768	27	1	189	1	OR52E2	11	5080067	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08		5080067	129926449	59	49544											
OR51B2	79345	broad.mit.edu	37	chr11	5345445	5345445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acacataaacagcaaagaagGggatggagatccagtgatga	18	5	12	6	0	0	4	0	2	0	2	1	6	1	5	1	3	2	1	1	3	4	1			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:5345445G>A	ENST00000328813.2	-	1	137	c.83C>T	c.(82-84)cCc>cTc	p.P28L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P28L(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAAAGAAGGGGATGGAGAT	0.502											OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	37					0	0	0	0	A	5345445	G	A	5345445	3	1	276	1	0	0	0	0	1	0	0	0	11160	1232	43	4	859	4	OR51B2	11	5345445	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	265378	5345445	129661071	60	49545											
OR52N1	79473	broad.mit.edu	37	chr11	5809698	5809698	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccagggccatgagcatgaGcaccccagactccatccctg	9	6	10	16	0	0	3	0	2	0	1	3	3	3	3	6	1	2	2	6	1	0	0			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:5809698G>C	ENST00000317078.1	-	1	348	c.349C>G	c.(349-351)Ctc>Gtc	p.L117V	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATGAGCATGAGCACCCCAGAC	0.498													22	77					0	0	0	0	C	5809698	G	C	5809698	3	2	276	1	0	0	0	0	1	0	0	0	11198	971	34	4	616	4	OR52N1	11	5809698	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	464253	5809698	129196818	61	49546											
MRGPRX3	117195	broad.mit.edu	37	chr11	18158957	18158957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacatcctcaacctggtcGcggccgacttcctcttcctt	5	13	6	17	3	3	0	1	0	2	0	7	1	6	0	5	2	2	0	5	2	2	4	rs145864519		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:18158957G>A	ENST00000396275.2	+	3	569	c.208G>A	c.(208-210)Gcg>Acg	p.A70T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	70						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAACCTGGTCGCGGCCGACTT	0.567													44	76					0	0	0	0	A	18158957	G	A	18158957	3	1	276	1	0	0	0	0	1	0	0	0	9838	1087	38	1	210	1	MRGPRX3	11	18158957	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	12349259	18158957	116847559	62	49547											
MPZL3	196264	broad.mit.edu	37	chr11	118107898	118107898	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagatgcatcccctttgtaTacatttccaacccaggaaat	13	12	5	11	0	0	1	0	0	0	1	2	2	2	2	4	1	3	2	4	1	5	5			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:118107898T>C	ENST00000278949.4	-	3	373	c.318A>G	c.(316-318)gtA>gtG	p.V106V	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Silent_p.V94V			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	106	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCCCTTTGTATACATTTCCAA	0.428													61	71					0	0	0	0	C	118107898	T	C	118107898	2	2	276	1	0	0	0	0	0	0	0	1	9821	1393	49	5		5	MPZL3	11	118107898	Silent	SNP	T	TCGA-CV-7097-01A-11D-2012-08	99948941	118107898	16898618	63	49548											
ADAMTS20	80070	broad.mit.edu	37	chr12	43777690	43777690	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaacaaggtcgggtggactGatcacacatttcttcaacca	13	9	9	10	1	3	2	2	1	1	1	4	3	3	3	1	3	2	0	1	3	3	2			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:43777690G>A	ENST00000389420.3	-	30	4542	c.4543C>T	c.(4543-4545)Cag>Tag	p.Q1515*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1515	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding	p.Q1515*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGGGTGGACTGATCACACATT	0.507													22	64					0	0	0	0	A	43777690	G	A	43777690	4	1	276	1	0	0	0	0	0	1	0	0	266	1299	45	2	1228	2	ADAMTS20	12	43777690	Nonsense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08		43777690	90074205	64	49549											
SPRYD3	84926	broad.mit.edu	37	chr12	53460181	53460181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctcttcctcttccccttCctggtgcaggtacatgacat	5	14	6	16	0	2	1	0	1	2	0	6	1	6	1	5	2	2	2	5	2	1	4			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:53460181C>T	ENST00000301463.4	-	10	1197	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E408K	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	371	Glu-rich.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						tcttccccttcctGGTGCAGG	0.572											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	54					0	0	0	0	T	53460181	C	T	53460181	3	4	276	1	0	0	0	0	1	0	0	0	15199	864	30	2	225	2	SPRYD3	12	53460181	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	9682491	53460181	80391714	65	49550											
SOAT2	8435	broad.mit.edu	37	chr12	53509227	53509227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcggacagctgccattggCgctggtgacctgggtgccca	5	9	14	13	2	0	1	0	1	0	0	1	2	0	2	3	4	3	2	3	4	0	2			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:53509227C>T	ENST00000301466.3	+	6	557	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	166					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						CTGCCATTGGCGCTGGTGACC	0.612													14	29					0	0	0	0	T	53509227	C	T	53509227	3	4	276	1	0	0	0	0	1	0	0	0	14999	768	27	1	519	1	SOAT2	12	53509227	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	49046	53509227	80342668	66	49551											
IL26	55801	broad.mit.edu	37	chr12	68595690	68595690	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagttcactgatggcttTgtagattcctttgtttccaa	8	17	7	9	0	1	2	1	1	0	1	4	2	4	2	3	1	0	4	3	1	2	6			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:68595690T>G	ENST00000229134.4	-	5	515	c.451A>C	c.(451-453)Aaa>Caa	p.K151Q	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	151					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		CTGATGGCTTTGTAGATTCCT	0.274													9	37					0	0	0	0	G	68595690	T	G	68595690	3	3	276	1	0	0	0	0	1	0	0	0	7732	1821	63	5	68	5	IL26	12	68595690	Missense_Mutation	SNP	T	TCGA-CV-7097-01A-11D-2012-08	15086463	68595690	65256205	67	49552											
DCN	1634	broad.mit.edu	37	chr12	91550936	91550936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagccccattttcaattcCtgagctcttcagcggattgg	9	12	9	11	1	3	1	2	1	1	0	4	3	4	2	3	2	3	1	3	2	2	5			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:91550936C>G	ENST00000052754.5	-	5	1069	c.568G>C	c.(568-570)Gga>Cga	p.G190R	DCN_ENST00000425043.1_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.G190R|DCN_ENST00000420120.2_Missense_Mutation_p.G81R|DCN_ENST00000441303.2_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.G81R|DCN_ENST00000393155.1_Missense_Mutation_p.G190R	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	190					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTTTCAATTCCTGAGCTCTTC	0.413													9	96					0	0	0	0	G	91550936	C	G	91550936	3	3	276	1	0	0	0	0	1	0	0	0	4329	690	24	4	527	4	DCN	12	91550936	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	22955246	91550936	42300959	68	49553											
VEZT	55591	broad.mit.edu	37	chr12	95645720	95645720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtctttttcagaattCtccactttaccaatacttac	9	19	3	10	0	3	1	1	0	2	1	4	1	3	1	2	0	3	0	2	0	5	8			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:95645720C>A	ENST00000436874.1	+	2	146	c.41C>A	c.(40-42)tCt>tAt	p.S14Y	VEZT_ENST00000356859.4_Intron|VEZT_ENST00000261219.6_5'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	14						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTTCAGAATTCTCCACTTTAC	0.363													19	58					1.01871e-10	2.85897e-10	1	0	A	95645720	C	A	95645720	3	1	276	1	0	0	0	0	1	0	0	0	17252	913	32	2	47	2	VEZT	12	95645720	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	4094784	95645720	38206175	69	49554											
GAS2L3	283431	broad.mit.edu	37	chr12	101018469	101018469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaaaacacaaactgcacCgaagtcagcacagactgtcg	16	5	7	13	2	1	1	1	0	0	1	2	2	1	1	2	0	5	2	2	0	5	1			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:101018469C>T	ENST00000537247.1	+	10	2528	c.1574C>T	c.(1573-1575)cCg>cTg	p.P525L	GAS2L3_ENST00000266754.5_Missense_Mutation_p.P629L|GAS2L3_ENST00000539410.1_Missense_Mutation_p.P629L|GAS2L3_ENST00000547754.1_Missense_Mutation_p.P629L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	629					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CAAACTGCACCGAAGTCAGCA	0.527													20	56					0	0	0	0	T	101018469	C	T	101018469	3	4	276	1	0	0	0	0	1	0	0	0	6297	652	23	1	1916	1	GAS2L3	12	101018469	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	5372749	101018469	32833426	70	49555											
ACAD10	80724	broad.mit.edu	37	chr12	112165809	112165809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatggagtactgcccaggtCtcatctacaaagacccttcc	10	10	8	13	0	2	2	1	1	2	1	4	3	3	3	3	2	3	1	3	2	3	3			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:112165809C>G	ENST00000455480.2	+	10	1375	c.1198C>G	c.(1198-1200)Ctc>Gtc	p.L400V	ACAD10_ENST00000392636.2_Intron|ACAD10_ENST00000549590.1_Missense_Mutation_p.L369V|ACAD10_ENST00000313698.4_Missense_Mutation_p.L369V|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	369							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGCCCAGGTCTCATCTACAA	0.522													45	141					0	0	0	0	G	112165809	C	G	112165809	3	3	276	1	0	0	0	0	1	0	0	0	108	913	32	2	1232	2	ACAD10	12	112165809	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	11147340	112165809	21686086	71	49556											
RPH3A	22895	broad.mit.edu	37	chr12	113307745	113307745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaactatgggcctcccGtgcgcagggcctccgaggca	8	5	15	13	3	0	0	0	0	0	0	2	3	2	1	4	4	2	2	4	4	2	1			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:113307745G>A	ENST00000389385.4	+	10	1194	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.V229M|RPH3A_ENST00000548866.1_Missense_Mutation_p.V184M|RPH3A_ENST00000420983.2_Missense_Mutation_p.V233M|RPH3A_ENST00000543106.2_Missense_Mutation_p.V233M|RPH3A_ENST00000447659.2_Missense_Mutation_p.V184M|RPH3A_ENST00000415485.3_Missense_Mutation_p.V233M	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	233	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGGGCCTCCCGTGCGCAGGGC	0.612													24	63					0	0	0	0	A	113307745	G	A	113307745	3	1	276	1	0	0	0	0	1	0	0	0	13636	1145	40	1	727	1	RPH3A	12	113307745	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	1141936	113307745	20544150	72	49557											
DNAH10	196385	broad.mit.edu	37	chr12	124416356	124416356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacgcttcaacaagcttGtggtccggatgacgaagtct	10	10	12	9	3	2	1	1	1	1	0	3	4	3	3	1	3	3	2	1	3	4	2			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:124416356G>T	ENST00000409039.3	+	74	12761	c.12736G>T	c.(12736-12738)Gtg>Ttg	p.V4246L	DNAH10_ENST00000538983.1_3'UTR|DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4246					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAACAAGCTTGTGGTCCGGAT	0.542													33	84					7.72975e-29	2.26046e-28	1	0	T	124416356	G	T	124416356	3	4	276	1	0	0	0	0	1	0	0	0	4635	1377	48	4	13030	4	DNAH10	12	124416356	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	11108611	124416356	9435539	73	49558											
DACT1	51339	broad.mit.edu	37	chr14	59112758	59112758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttccgccattgggacagggGagtcccctaaggaaagcgct	9	7	14	11	2	0	0	0	0	0	0	2	3	2	3	4	4	1	2	4	4	2	3			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr14:59112758G>A	ENST00000395153.3	+	4	1453	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	DACT1_ENST00000556859.1_Missense_Mutation_p.E192K|DACT1_ENST00000335867.4_Missense_Mutation_p.E473K|DACT1_ENST00000541264.2_Missense_Mutation_p.E192K|DACT1_ENST00000395151.3_Missense_Mutation_p.E192K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	473					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGGGACAGGGGAGTCCCCTAA	0.612													26	68					0	0	0	0	A	59112758	G	A	59112758	3	1	276	1	0	0	0	0	1	0	0	0	4255	1175	41	2	1431	2	DACT1	14	59112758	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08		59112758	48236782	74	49559											
PTGR2	145482	broad.mit.edu	37	chr14	74327274	74327274	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagtggcagagaatttcCgaatggaagaagtctattta	14	11	10	6	1	1	2	0	0	1	2	3	5	3	3	2	2	0	1	2	2	6	4			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr14:74327274C>T	ENST00000555661.1	+	3	215	c.70C>T	c.(70-72)Cga>Tga	p.R24*	PTGR2_ENST00000553326.1_3'UTR|RP5-1021I20.4_ENST00000553813.1_5'UTR|PTGR2_ENST00000554885.1_5'UTR|PTGR2_ENST00000267568.4_Nonsense_Mutation_p.R24*|PTGR2_ENST00000555228.1_Nonsense_Mutation_p.R24*			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	24					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						AGAGAATTTCCGAATGGAAGA	0.284													22	38					0	0	0	0	T	74327274	C	T	74327274	4	4	276	1	0	0	0	0	0	1	0	0	12834	644	23	1	76	1	PTGR2	14	74327274	Nonsense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	15214516	74327274	33022266	75	49560											
TECPR2	9895	broad.mit.edu	37	chr14	102874944	102874944	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaattgtttattcttctctGgatctagaccaggtaaaatt	13	16	6	6	0	3	1	0	0	3	1	4	2	3	2	1	2	0	2	1	2	6	8			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr14:102874944G>C	ENST00000359520.7	+	4	694	c.468G>C	c.(466-468)ctG>ctC	p.L156L	TECPR2_ENST00000558678.1_Silent_p.L156L|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	156							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ATTCTTCTCTGGATCTAGACC	0.338													19	48					0	0	0	0	C	102874944	G	C	102874944	2	2	276	1	0	0	0	0	0	0	0	1	15838	1335	47	4		4	TECPR2	14	102874944	Silent	SNP	G	TCGA-CV-7097-01A-11D-2012-08	28547670	102874944	4474596	76	49561											
LTK	4058	broad.mit.edu	37	chr15	41797503	41797503	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccagaggtgatggctggcCctgggtcaggcagagggggc	7	5	20	9	0	1	3	1	1	0	2	1	4	1	3	2	7	0	2	2	7	0	0			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr15:41797503C>T	ENST00000263800.6	-	15	1924	c.1827_splice	c.e15-1	p.G610_splice	LTK_ENST00000453182.2_Splice_Site_p.G480_splice|LTK_ENST00000355166.5_Splice_Site_p.G549_splice|LTK_ENST00000561619.1_Splice_Site_p.G308_splice	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	610	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GATGGCTGGCCCTGGGTCAGG	0.597										TSP Lung(18;0.14)			5	44					0	0	0	0	T	41797503	C	T	41797503	5	4	276	1	0	0	0	0	0	0	1	0	9144	637	22	4	790	4	LTK	15	41797503	Splice_Site	SNP	C	TCGA-CV-7097-01A-11D-2012-08		41797503	60733889	77	49562											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42137429	42137429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacaagctctcagatcaacGggaggccctgagtcatggcc	10	7	11	13	1	4	2	4	1	1	1	5	3	4	3	2	3	2	1	2	3	2	0			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr15:42137429G>T	ENST00000382448.4	+	19	1970	c.1961G>T	c.(1960-1962)cGg>cTg	p.R654L	JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R654L|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R423L|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.R423L	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		423	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TCAGATCAACGGGAGGCCCTG	0.592													4	34					0.00024832	0.000987223	1	0	T	42137429	G	T	42137429	3	4	276	1	0	0	0	0	1	0	0	0	8008	1116	39	3	2035	3	JMJD7-PLA2G4B	15	42137429	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	339926	42137429	60393963	78	49563											
PSTPIP1	9051	broad.mit.edu	37	chr15	77310547	77310547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgcagcggcttctggatgGcaggaagatgtgcaaagaca	11	7	15	8	1	1	2	0	0	1	2	1	4	1	4	0	4	3	5	0	4	2	1			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr15:77310547G>A	ENST00000558012.1	+	2	584	c.95G>A	c.(94-96)gGc>gAc	p.G32D	PSTPIP1_ENST00000379595.3_Missense_Mutation_p.G32D|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.G32D|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.G31D	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	32	FCH.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTTCTGGATGGCAGGAAGATG	0.627													4	6					0	0	0	0	A	77310547	G	A	77310547	3	1	276	1	0	0	0	0	1	0	0	0	12800	1203	42	4	101	4	PSTPIP1	15	77310547	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	35173118	77310547	25220845	79	49564											
SEMA4B	10509	broad.mit.edu	37	chr15	90771407	90771407	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggacggggtggcagaccaAacagatgagggtggcagtgt	11	5	19	6	1	0	3	0	1	0	2	0	5	0	4	1	6	1	2	1	6	1	0			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr15:90771407A>T	ENST00000411539.2	+	14	2306	c.2046A>T	c.(2044-2046)caA>caT	p.Q682H	SEMA4B_ENST00000332496.6_Missense_Mutation_p.Q682H|SEMA4B_ENST00000379122.3_Missense_Mutation_p.Q677H	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGGCAGACCAAACAGATGAGG	0.607													5	17					0	0	0	0	T	90771407	A	T	90771407	3	4	276	1	0	0	0	0	1	0	0	0	14119	11	1	5	2100	5	SEMA4B	15	90771407	Missense_Mutation	SNP	A	TCGA-CV-7097-01A-11D-2012-08	13460860	90771407	11759985	80	49565											
CIITA	4261	broad.mit.edu	37	chr16	11016081	11016081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttggctcgtgtgcttccGgacatggtgtccctccgggt	3	12	14	12	3	0	0	0	0	0	0	4	1	3	1	3	4	2	3	3	4	0	2			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:11016081G>A	ENST00000324288.8	+	17	3340	c.3207G>A	c.(3205-3207)ccG>ccA	p.P1069P	CIITA_ENST00000381835.5_Silent_p.P485P	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1069					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GTGTGCTTCCGGACATGGTGT	0.627			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								36	138					0	0	0	0	A	11016081	G	A	11016081	2	1	276	1	0	0	0	0	0	0	0	1	3457	1103	39	1		1	CIITA	16	11016081	Silent	SNP	G	TCGA-CV-7097-01A-11D-2012-08		11016081	79338672	81	49566											
NOL3	8996	broad.mit.edu	37	chr16	67208838	67208838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgacttcgaggaaagggacGagtccgaaggtgtgagtccg	10	6	16	9	5	0	1	0	1	0	0	3	7	2	3	3	3	0	0	3	3	2	1			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:67208838G>A	ENST00000432069.2	+	5	1182	c.610G>A	c.(610-612)Gag>Aag	p.E204K	NOL3_ENST00000564053.1_Missense_Mutation_p.E266K|NOL3_ENST00000568146.1_Silent_p.T200T|NOL3_ENST00000268605.7_Missense_Mutation_p.E204K	NM_001276309.1|NM_001276312.1|NM_001276319.1	NP_001263238.1|NP_001263241.1|NP_001263248.1	O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	0					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGAAAGGGACGAGTCCGAAGG	0.657													22	36					0	0	0	0	A	67208838	G	A	67208838	3	1	276	1	0	0	0	0	1	0	0	0	10593	1059	37	1	616	1	NOL3	16	67208838	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	56192757	67208838	23145915	82	49567											
CHST4	10164	broad.mit.edu	37	chr16	71571103	71571103	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgctcctacagccacgtgGtgctcaaggaggtgcgcttc	6	8	13	14	3	1	0	1	0	0	0	3	1	2	1	3	3	4	3	3	3	2	2			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:71571103G>C	ENST00000338482.5	+	3	866	c.523G>C	c.(523-525)Gtg>Ctg	p.V175L	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.V175L|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000572450.1_Missense_Mutation_p.V175L			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	175					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CAGCCACGTGGTGCTCAAGGA	0.617													3	68					0	0	0	0	C	71571103	G	C	71571103	3	2	276	1	0	0	0	0	1	0	0	0	3435	1261	44	4	525	4	CHST4	16	71571103	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	4362265	71571103	18783650	83	49568											
CHST6	4166	broad.mit.edu	37	chr16	75513153	75513153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgatgcgtaggttgagcgCggggtcgctgagcagcgggt	6	7	19	9	6	0	2	0	2	0	0	1	3	0	2	0	4	4	4	0	4	1	2			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:75513153C>T	ENST00000332272.4	-	3	753	c.574G>A	c.(574-576)Gcg>Acg	p.A192T	CHST6_ENST00000390664.2_Missense_Mutation_p.A192T|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	192					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGTTGAGCGCGGGGTCGCTG	0.692													13	49					0	0	0	0	T	75513153	C	T	75513153	3	4	276	1	0	0	0	0	1	0	0	0	3437	768	27	1	617	1	CHST6	16	75513153	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	3942050	75513153	14841600	84	49569											
CDYL2	124359	broad.mit.edu	37	chr16	80718469	80718469	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgtagcgtgattcacGtcacattcacccatatcttg	9	12	8	12	2	4	1	3	1	1	0	4	1	4	1	2	0	1	1	2	0	2	5	rs149647231	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:80718469G>A	ENST00000299564.8	-	2	737	c.582C>T	c.(580-582)gaC>gaT	p.D194D	CDYL2_ENST00000566173.1_Silent_p.D194D|CDYL2_ENST00000563890.1_Silent_p.D194D|CDYL2_ENST00000562812.1_Silent_p.D194D	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	194						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CGTGATTCACGTCACATTCAC	0.527													15	59					0	0	0	0	A	80718469	G	A	80718469	2	1	276	1	0	0	0	0	0	0	0	1	3215	1136	40	1		1	CDYL2	16	80718469	Silent	SNP	G	TCGA-CV-7097-01A-11D-2012-08	5205316	80718469	9636284	85	49570											
TP53	7157	broad.mit.edu	37	chr17	7576840	7576851	+	Splice_Site	DEL	CAAGACTTAGTA	CAAGACTTAGTA	-																															ttccacttgataagaggtccCaagacttagtacctgaaggg																								rs1800899	by1000genomes	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:7576840_7576851delCAAGACTTAGTA	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(14)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TAAGAGGTCCCAAGACTTAGTACCTGAAGGGT	0.472		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	40	---	---	---	---					-	7576851	CAAGACTTAGTA	-	7576840	8	5	276	1	0	1	0	1	0	0	1	0	16476	609	21	0		0	TP53	17	7576840	Splice_Site	DEL	CAAGACTTAGTA	TCGA-CV-7097-01A-11D-2012-08		7576840	73618370	86	49571											
MYH2	4620	broad.mit.edu	37	chr17	10440764	10440764	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggaagttggcagacttGcccaggtgctggtcatacag	8	11	13	9	0	2	1	1	0	1	1	2	2	2	2	1	4	3	3	1	4	2	4			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:10440764G>C	ENST00000245503.5	-	16	2067	c.1683C>G	c.(1681-1683)ggC>ggG	p.G561G	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.G561G|MYH2_ENST00000532183.1_Silent_p.G561G	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	561	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGGCAGACTTGCCCAGGTGCT	0.517													7	127					0	0	0	0	C	10440764	G	C	10440764	2	2	276	1	0	0	0	0	0	0	0	1	10105	1306	46	4		4	MYH2	17	10440764	Silent	SNP	G	TCGA-CV-7097-01A-11D-2012-08	2863924	10440764	70754446	87	49572											
BRCA1	672	broad.mit.edu	37	chr17	41228515	41228515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcttacctttccactcCtggttctttatttttactgg	4	22	5	10	0	2	0	0	0	2	0	4	0	4	0	3	2	2	2	3	2	3	9			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:41228515C>T	ENST00000309486.4	-	12	4613	c.3586G>A	c.(3586-3588)Gga>Aga	p.G1196R	BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.G1492R|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.G350R|BRCA1_ENST00000493795.1_Missense_Mutation_p.G1445R|BRCA1_ENST00000351666.3_Missense_Mutation_p.G309R|BRCA1_ENST00000471181.2_Missense_Mutation_p.G1513R|BRCA1_ENST00000468300.1_Missense_Mutation_p.G388R|BRCA1_ENST00000491747.2_Missense_Mutation_p.G388R|BRCA1_ENST00000591849.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1492					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTTCCACTCCTGGTTCTTTA	0.358			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			17	49					0	0	0	0	T	41228515	C	T	41228515	3	4	276	1	0	0	0	0	1	0	0	0	1506	690	24	4	1161	4	BRCA1	17	41228515	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	30787751	41228515	39966695	88	49573											
BCAS3	54828	broad.mit.edu	37	chr17	59115269	59115269	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcagtccaaacaagttgtAgttgagtccctgtacattat	12	13	8	8	0	1	1	1	1	0	0	3	2	3	1	2	0	2	4	2	0	5	5			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:59115269A>G	ENST00000589222.1	+	18	1850	c.1782A>G	c.(1780-1782)gtA>gtG	p.V594V	BCAS3_ENST00000390652.5_Silent_p.V609V|BCAS3_ENST00000588874.1_Silent_p.V365V|BCAS3_ENST00000408905.3_Silent_p.V594V|BCAS3_ENST00000407086.3_Silent_p.V594V|BCAS3_ENST00000588462.1_Silent_p.V609V|BCAS3_ENST00000585744.1_Silent_p.V380V|RP11-264B14.1_ENST00000588604.1_RNA			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	609						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AACAAGTTGTAGTTGAGTCCC	0.428													4	267					0	0	0	0	G	59115269	A	G	59115269	2	3	276	1	0	0	0	0	0	0	0	1	1356	407	15	5		5	BCAS3	17	59115269	Silent	SNP	A	TCGA-CV-7097-01A-11D-2012-08	17886754	59115269	22079941	89	49574											
DCAF7	10238	broad.mit.edu	37	chr17	61661062	61661062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctggccaccatggccatgGatggaatggaggtgagcact	10	7	14	10	0	0	1	0	1	0	0	0	4	0	4	4	6	1	1	4	6	1	0			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:61661062G>A	ENST00000310827.4	+	6	944	c.727G>A	c.(727-729)Gat>Aat	p.D243N	DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	243					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CATGGCCATGGATGGAATGGA	0.537													13	38					0	0	0	0	A	61661062	G	A	61661062	3	1	276	1	0	0	0	0	1	0	0	0	4308	1174	41	2	746	2	DCAF7	17	61661062	Missense_Mutation	SNP	G	TCGA-CV-7097-01A-11D-2012-08	2545793	61661062	19534148	90	49575											
KIF19	124602	broad.mit.edu	37	chr17	72341019	72341019	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcgccagcgcagccgggtCaagaacatcttgcaggaggt	9	6	15	11	3	2	1	1	0	1	1	2	2	2	2	2	3	5	2	2	3	2	1			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:72341019C>T	ENST00000389916.4	+	7	840	c.702C>T	c.(700-702)gtC>gtT	p.V234V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	234	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAGCCGGGTCAAGAACATCT	0.697													10	26					0	0	0	0	T	72341019	C	T	72341019	2	4	276	1	0	0	0	0	0	0	0	1	8333	813	29	2		2	KIF19	17	72341019	Silent	SNP	C	TCGA-CV-7097-01A-11D-2012-08	10679957	72341019	8854191	91	49576											
BIRC5	332	broad.mit.edu	37	chr17	76219780	76219780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattagatgtttcaactgtgCtcttgttttgtcttgaaagt	9	19	8	5	0	3	2	1	1	2	1	3	2	3	2	0	0	2	3	0	0	4	6			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr17:76219780C>T	ENST00000600484.1	-	5	499	c.500G>A	c.(499-501)aGc>aAc	p.S167N	BIRC5_ENST00000301633.4_3'UTR|BIRC5_ENST00000350051.3_3'UTR|BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000374948.2_3'UTR																							TTCAACTGTGCTCTTGTTTTG	0.493													3	5					0	0	0	0	T	76219780	C	T	76219780	3	4	276	1	0	0	0	0	1	0	0	0	1442	812	28	4		4	BIRC5	17	76219780	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	3878761	76219780	4975430	92	49577											
SMAD4	4089	broad.mit.edu	37	chr18	48603080	48603080	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaagctgcagcagctgccCaggcagcagccgtggcagga	10	3	14	14	1	0	0	0	0	0	0	0	1	0	1	2	3	7	7	2	3	1	0			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr18:48603080C>T	ENST00000342988.3	+	11	1919	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q461*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q365*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	461	MH2.|Poly-Ala.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGCAGCTGCCCAGGCAGCAGC	0.468													12	23					0	0	0	0	T	48603080	C	T	48603080	4	4	276	1	0	0	0	0	0	1	0	0	14848	595	21	4	1419	4	SMAD4	18	48603080	Nonsense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08		48603080	29474168	93	49578											
DOT1L	84444	broad.mit.edu	37	chr19	2214510	2214510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagctggactgggccaCgctgtcgctggagaagctgt	6	8	16	11	2	0	1	0	0	0	1	1	3	0	2	1	3	3	6	1	3	1	0			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:2214510C>T	ENST00000398665.3	+	19	1874	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	DOT1L_ENST00000586024.1_3'UTR|AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	613						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GACTGGGCCACGCTGTCGCTG	0.647													14	25					0	0	0	0	T	2214510	C	T	2214510	3	4	276	1	0	0	0	0	1	0	0	0	4745	536	19	1	1912	1	DOT1L	19	2214510	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08		2214510	56914473	94	49579											
ANO8	57719	broad.mit.edu	37	chr19	17436103	17436103	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagaatcatgctcccgccgGgcatggtgctctgcatggcg	6	8	13	14	3	2	1	1	0	1	1	3	1	3	1	3	3	3	4	3	3	1	0			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:17436103G>A	ENST00000159087.4	-	17	2912	c.2754C>T	c.(2752-2754)gcC>gcT	p.A918A		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	918						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCTCCCGCCGGGCATGGTGCT	0.697													15	32					0	0	0	0	A	17436103	G	A	17436103	2	1	276	1	0	0	0	0	0	0	0	1	702	1219	43	4		4	ANO8	19	17436103	Silent	SNP	G	TCGA-CV-7097-01A-11D-2012-08	15221593	17436103	41692880	95	49580											
ZNF708	7562	broad.mit.edu	37	chr19	21476934	21476934	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcttcacatttgtagggTttctctccagtatgaactat	9	17	6	9	0	3	1	1	1	2	0	5	1	4	1	1	1	1	3	1	1	4	7			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:21476934T>G	ENST00000356929.3	-	4	1031	c.834A>C	c.(832-834)aaA>aaC	p.K278N		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ATTTGTAGGGTTTCTCTCCAG	0.373													23	54					0	0	0	0	G	21476934	T	G	21476934	3	3	276	1	0	0	0	0	1	0	0	0	18207	1722	60	5	861	5	ZNF708	19	21476934	Missense_Mutation	SNP	T	TCGA-CV-7097-01A-11D-2012-08	4040831	21476934	37652049	96	49581											
PAF1	54623	broad.mit.edu	37	chr19	39876966	39876966	+	Frame_Shift_Del	DEL	C	C	-																															ctcgtccctgtcaccttcctCccgttcactctcgctgcccg																										TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:39876966delC	ENST00000221265.3	-	14	1591	c.1261delG	c.(1261-1263)agfs	p.E422fs	PAF1_ENST00000595564.1_Intron|PAF1_ENST00000221266.7_Intron	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	422	Glu-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCACCTTCCTCCCGTTCACTC	0.602													35	239	---	---	---	---					-	39876966	C	-	39876966	7	5	276	1	0	1	0	1	0	0	0	0	11454	864	30	0	338	0	PAF1	19	39876966	Frame_Shift_Del	DEL	C	TCGA-CV-7097-01A-11D-2012-08	18400032	39876966	19252017	97	49582											
ZNF224	7767	broad.mit.edu	37	chr19	44610697	44610697	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagttctccaaagaaggTgatttcccctgccagactga	10	11	8	12	0	2	4	1	2	2	2	5	4	3	4	4	1	1	1	4	1	2	2			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:44610697T>A	ENST00000336976.6	+	6	638	c.384T>A	c.(382-384)ggT>ggA	p.G128G	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	128					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				CCAAAGAAGGTGATTTCCCCT	0.433													10	63					0	0	0	0	A	44610697	T	A	44610697	2	1	276	1	0	0	0	0	0	0	0	1	17873	1683	59	5		5	ZNF224	19	44610697	Silent	SNP	T	TCGA-CV-7097-01A-11D-2012-08	4733731	44610697	14518286	98	49583											
NAPA	8775	broad.mit.edu	37	chr19	47996389	47996390	+	Frame_Shift_Ins	INS	-	-	G																															ggctacctgttggactcctcINSgcctttgtagtagtctgcag																										TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:47996389_47996390insG	ENST00000263354.3	-	6	761_762	c.462_463insC	c.(460-465)ggaggafs	p.G155fs	NAPA_ENST00000595227.1_Frame_Shift_Ins_p.G116fs|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	155					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		TTGGACTCCTCGCCTTTGTAGT	0.649													20	45	---	---	---	---					G	47996390	-	G	47996389	7	5	276	1	0	1	1	0	0	0	0	0	10231	893	31	0	448	0	NAPA	19	47996389	Frame_Shift_Ins	INS	-	TCGA-CV-7097-01A-11D-2012-08	3385692	47996389	11132594	99	49584											
LILRB1	10859	broad.mit.edu	37	chr19	55144664	55144664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggctgaattccccatgggtCctgtgacctcagcccatgcg	7	9	11	14	1	1	2	1	2	0	0	3	2	3	2	5	2	2	1	5	2	1	1			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:55144664C>T	ENST00000396331.1	+	8	1513	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	LILRB1_ENST00000396332.4_Missense_Mutation_p.P386S|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000418536.2_Missense_Mutation_p.P386S|LILRB1_ENST00000434867.2_Missense_Mutation_p.P386S|LILRB1_ENST00000396317.1_Missense_Mutation_p.P386S|LILRB1_ENST00000427581.2_Missense_Mutation_p.P422S|LILRB1_ENST00000448689.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396327.3_Missense_Mutation_p.P386S|LILRB1_ENST00000396321.2_Missense_Mutation_p.P386S|LILRB1_ENST00000324602.7_Missense_Mutation_p.P386S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	386	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCCATGGGTCCTGTGACCTC	0.567										HNSCC(37;0.09)			32	105					0	0	0	0	T	55144664	C	T	55144664	3	4	276	1	0	0	0	0	1	0	0	0	8844	855	30	2	1178	2	LILRB1	19	55144664	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	7148275	55144664	3984319	100	49585											
RIMS4	140730	broad.mit.edu	37	chr20	43386376	43386376	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggataatgtccacctccaacTgaccgttccgctcctgcaga	9	9	8	15	2	0	2	0	1	0	1	4	3	4	3	6	1	2	3	6	1	2	2			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr20:43386376T>A	ENST00000372851.3	-	4	452	c.386A>T	c.(385-387)cAg>cTg	p.Q129L	RIMS4_ENST00000541604.2_Missense_Mutation_p.Q130L	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	129	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CACCTCCAACTGACCGTTCCG	0.592													73	68					0	0	0	0	A	43386376	T	A	43386376	3	1	276	1	0	0	0	0	1	0	0	0	13455	1580	55	5	435	5	RIMS4	20	43386376	Missense_Mutation	SNP	T	TCGA-CV-7097-01A-11D-2012-08		43386376	19639144	101	49586											
RBPJL	11317	broad.mit.edu	37	chr20	43945404	43945404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggctgcgcgctcccatCacaatccccatgagcctggt	6	8	10	17	3	1	1	1	1	0	0	3	1	3	1	4	2	2	3	4	2	1	0			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr20:43945404C>A	ENST00000372741.3	+	12	1441	c.1369C>A	c.(1369-1371)Cac>Aac	p.H457N	RBPJL_ENST00000343694.3_Silent_p.I453I|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Silent_p.I452I			Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	0	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCGCTCCCATCACAATCCCCA	0.697													30	39					2.36697e-06	6.53735e-06	1	0	A	43945404	C	A	43945404	3	1	276	1	0	0	0	0	1	0	0	0	13244	816	29	2	1405	2	RBPJL	20	43945404	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08	559028	43945404	19080116	102	49587											
ZNFX1	57169	broad.mit.edu	37	chr20	47855521	47855530	+	Frame_Shift_Del	DEL	ATGGAGAAAG	ATGGAGAAAG	-																															tccgggacaagattgagaaaAtggagaaagatgtgtatgca																										TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr20:47855521_47855530delATGGAGAAAG	ENST00000371754.4	-	15	4187_4196	c.3734_3743delCTTTCTCCAT	c.(3733-3744)ttfs	p.SFSI1245fs	DDX27_ENST00000484427.1_3'UTR|DDX27_ENST00000371764.4_Frame_Shift_Del_p.MEKD606fs|ZNFX1_ENST00000469991.1_5'UTR			Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	0							metal ion binding	p.M606I(1)|p.E607*(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GATTGAGAAAATGGAGAAAGATGTGTATGC	0.486													14	45	---	---	---	---					-	47855530	ATGGAGAAAG	-	47855521	7	5	276	1	0	1	0	1	0	0	0	0	18298	101	4	0		0	ZNFX1	20	47855521	Frame_Shift_Del	DEL	ATGGAGAAAG	TCGA-CV-7097-01A-11D-2012-08	3910117	47855521	15169999	103	49588											
SLC17A9	63910	broad.mit.edu	37	chr20	61598792	61598792	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacctggggctgtgcacCttcctggtgtttggacaggc	6	10	14	11	0	0	0	0	0	0	0	1	1	1	1	3	5	3	4	3	5	1	2			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr20:61598792C>A	ENST00000370349.3	+	14	1437	c.1233C>A	c.(1231-1233)acC>acA	p.T411T	SLC17A9_ENST00000370351.4_Silent_p.T417T|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	417					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGCTGTGCACCTTCCTGGTGT	0.607													50	152					4.01344e-20	1.7523e-19	1	0	A	61598792	C	A	61598792	2	1	276	1	0	0	0	0	0	0	0	1	14512	668	24	4		4	SLC17A9	20	61598792	Silent	SNP	C	TCGA-CV-7097-01A-11D-2012-08	13743271	61598792	1426728	104	49589											
DONSON	29980	broad.mit.edu	37	chr21	34958441	34958441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccacaggtaactcagtaCtttttgaggacggaatatca	13	11	9	8	1	2	1	2	1	0	0	3	3	3	3	1	3	2	2	1	3	4	5			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr21:34958441C>T	ENST00000453626.1	-	3	453	c.449G>A	c.(448-450)aGt>aAt	p.S150N	AP000304.12_ENST00000429238.1_Silent_p.K111K|DONSON_ENST00000303113.6_Missense_Mutation_p.S150N|DONSON_ENST00000303071.5_Missense_Mutation_p.S150N|DONSON_ENST00000432378.1_Missense_Mutation_p.S150N			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	150					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TAACTCAGTACTTTTTGAGGA	0.398											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	39					0	0	0	0	T	34958441	C	T	34958441	3	4	276	1	0	0	0	0	1	0	0	0	4742	565	20	4	1283	4	DONSON	21	34958441	Missense_Mutation	SNP	C	TCGA-CV-7097-01A-11D-2012-08		34958441	13171454	105	49590											
MCM3AP	8888	broad.mit.edu	37	chr21	47660924	47660924	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaggatgaaaaggctttaTtgccaaactgtaagtacatg	16	10	10	5	0	0	2	0	1	0	1	0	3	0	3	1	2	3	3	1	2	7	5			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr21:47660924T>C	ENST00000397708.1	-	27	5688	c.5434A>G	c.(5434-5436)Ata>Gta	p.I1812V	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.I1812V|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1812					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAAGGCTTTATTGCCAAACTG	0.388													46	86					0	0	0	0	C	47660924	T	C	47660924	3	2	276	1	0	0	0	0	1	0	0	0	9457	1493	52	5	520	5	MCM3AP	21	47660924	Missense_Mutation	SNP	T	TCGA-CV-7097-01A-11D-2012-08	12702483	47660924	468971	106	49591											
ZRSR2	8233	broad.mit.edu	37	chrX	15809058	15809058	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgtcttaatcttccagcCacaaaaagtacagggccgcc	13	9	7	12	1	2	0	0	0	2	0	3	0	3	0	4	1	2	1	4	1	5	4			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chrX:15809058C>A	ENST00000307771.7	+	2	67	c.41_splice	c.e2-1	p.H15_splice	ZRSR2_ENST00000468028.1_3'UTR|ZRSR2_ENST00000380308.3_Splice_Site_p.H15_splice	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	15					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					ATCTTCCAGCCACAAAAAGTA	0.512			"F, S, Mis"		"MDS, CLL"								12	18					3.07112e-06	8.41535e-06	1	0	A	15809058	C	A	15809058	5	1	276	1	0	0	0	0	0	0	1	0	18318	608	21	4	49	4	ZRSR2	23	15809058	Splice_Site	SNP	C	TCGA-CV-7097-01A-11D-2012-08		15809058	139461502	107	49592											
RGAG4	340526	broad.mit.edu	37	chrX	71350448	71350448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggagcgggataggctTgggaacgcgcacttttcttt	7	11	14	9	3	1	0	0	0	1	0	2	3	2	3	1	4	2	2	1	4	2	5			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chrX:71350448T>C	ENST00000545866.1	-	1	1310	c.943A>G	c.(943-945)Aag>Gag	p.K315E	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.K315E			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	315										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GGGATAGGCTTGGGAACGCGC	0.468													3	87					0	0	0	0	C	71350448	T	C	71350448	3	2	276	1	0	0	0	0	1	0	0	0	13357	1821	63	5	770	5	RGAG4	23	71350448	Missense_Mutation	SNP	T	TCGA-CV-7097-01A-11D-2012-08	55541390	71350448	83920112	108	49593											
MAGEA3	4102	broad.mit.edu	37	chrX	151935540	151935540	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacagtcgccctctcttgcGattatggccaggacgattat	8	11	10	12	3	1	0	0	0	1	0	3	3	1	1	2	2	1	1	2	2	2	3			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chrX:151935540G>A	ENST00000393902.3	-	3	1194	c.627C>T	c.(625-627)atC>atT	p.I209I	MAGEA3_ENST00000370278.3_Silent_p.I209I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	209	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTCTTGCGATTATGGCCA	0.562													13	169					0	0	0	0	A	151935540	G	A	151935540	2	1	276	1	0	0	0	0	0	0	0	1	9234	1048	37	1		1	MAGEA3	23	151935540	Silent	SNP	G	TCGA-CV-7097-01A-11D-2012-08	80585092	151935540	3335020	109	49594											
NOC2L	26155	broad.mit.edu	37	chr1	886571	886571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagagcagcgtcagggcaCggatgcagtgcattcgcagc	9	5	15	12	4	1	1	1	0	0	1	2	3	1	2	1	2	5	5	1	2	0	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:886571C>A	ENST00000327044.6	-	12	1428	c.1379G>T	c.(1378-1380)cGt>cTt	p.R460L		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	460						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CGTCAGGGCACGGATGCAGTG	0.687													3	6					0.004672	0.00657286	1	0	A	886571	C	A	886571	3	1	277	1	0	0	0	0	1	0	0	0	10583	536	19	3	902	3	NOC2L	1	886571	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08		886571	248364050	1	49595											
CCDC27	148870	broad.mit.edu	37	chr1	3683848	3683848	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgggactgtgtcatctcaGagttggacaccaaggtcagc	10	8	13	10	1	3	1	3	0	1	1	4	3	3	3	1	3	2	1	1	3	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:3683848G>C	ENST00000294600.2	+	10	1666	c.1582G>C	c.(1582-1584)Gag>Cag	p.E528Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	528										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGTCATCTCAGAGTTGGACAC	0.567													6	30					0	0	0	0	C	3683848	G	C	3683848	3	2	277	1	0	0	0	0	1	0	0	0	2827	943	33	2	1620	2	CCDC27	1	3683848	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	2797277	3683848	245566773	2	49596											
MTHFR	4524	broad.mit.edu	37	chr1	11851316	11851316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtgggctggatgatctctCgcccagggaagatgccccaa	8	7	14	12	2	1	2	0	1	1	1	3	4	1	4	3	4	1	1	3	4	2	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:11851316C>T	ENST00000376592.1	-	10	1828	c.1700G>A	c.(1699-1701)cGa>cAa	p.R567Q	MTHFR_ENST00000376585.1_Missense_Mutation_p.R608Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.R608Q|MTHFR_ENST00000376590.3_Missense_Mutation_p.R567Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	567					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GATGATCTCTCGCCCAGGGAA	0.602													18	30					0	0	0	0	T	11851316	C	T	11851316	3	4	277	1	0	0	0	0	1	0	0	0	10001	884	31	1	278	1	MTHFR	1	11851316	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	8167468	11851316	237399305	3	49597											
PRDM2	7799	broad.mit.edu	37	chr1	14108593	14108593	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtacagaaagcaattcttCagaaaaacaaatctgcaaag	20	8	6	7	0	3	2	1	0	2	2	3	2	3	2	0	0	4	3	0	0	8	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:14108593C>T	ENST00000235372.7	+	8	5159	c.4303C>T	c.(4303-4305)Cag>Tag	p.Q1435*	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Nonsense_Mutation_p.Q1234*|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Nonsense_Mutation_p.Q1435*|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Nonsense_Mutation_p.Q1234*	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1435	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGCAATTCTTCAGAAAAACAA	0.378													65	139					0	0	0	0	T	14108593	C	T	14108593	4	4	277	1	0	0	0	0	0	1	0	0	12538	827	29	2	4329	2	PRDM2	1	14108593	Nonsense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2257277	14108593	235142028	4	49598			1	78		3	3	413	C		9.709591e-06
PRDM2	7799	broad.mit.edu	37	chr1	14108975	14108975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacgtcaagtttgcagcttCggtgaaatccaaaaaaccaa	16	8	8	9	2	1	1	1	1	0	0	3	2	2	1	2	1	4	3	2	1	7	2	rs61747666		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:14108975C>T	ENST00000235372.7	+	8	5541	c.4685C>T	c.(4684-4686)tCg>tTg	p.S1562L	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1361L|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1562L|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1361L	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1562						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTTGCAGCTTCGGTGAAATCC	0.512													23	61					0	0	0	0	T	14108975	C	T	14108975	3	4	277	1	0	0	0	0	1	0	0	0	12538	893	31	1	4711	1	PRDM2	1	14108975	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	382	14108975	235141646	5	49599			1	78		3	3	413	C		9.709591e-06
PRDM2	7799	broad.mit.edu	37	chr1	14109005	14109005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaaaaccaagctcctcctCtttaaggaactccagcccga	14	7	5	15	1	1	0	0	0	1	0	4	2	4	1	5	1	4	1	5	1	6	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:14109005C>G	ENST00000235372.7	+	8	5571	c.4715C>G	c.(4714-4716)tCt>tGt	p.S1572C	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1371C|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1572C|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1371C	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1572						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGCTCCTCCTCTTTAAGGAAC	0.488													20	51					0	0	0	0	G	14109005	C	G	14109005	3	3	277	1	0	0	0	0	1	0	0	0	12538	913	32	2	4741	2	PRDM2	1	14109005	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	30	14109005	235141616	6	49600			1	78		3	3	413	C		9.709591e-06
UBR4	23352	broad.mit.edu	37	chr1	19505574	19505574	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttaaggcattctgggacGtcagggtcaccttgagcact	9	11	11	10	1	3	1	2	1	1	0	3	2	3	2	1	3	1	2	1	3	1	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:19505574G>A	ENST00000375267.2	-	18	2328	c.2325C>T	c.(2323-2325)gaC>gaT	p.D775D	UBR4_ENST00000375254.3_Silent_p.D775D|UBR4_ENST00000375217.2_Silent_p.D775D|UBR4_ENST00000375226.2_Silent_p.D775D			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	775					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTCTGGGACGTCAGGGTCAC	0.458													13	170					0	0	0	0	A	19505574	G	A	19505574	2	1	277	1	0	0	0	0	0	0	0	1	17000	1136	40	1		1	UBR4	1	19505574	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	5396569	19505574	229745047	7	49601											
SH2D5	400745	broad.mit.edu	37	chr1	21050978	21050978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgatcacggccgaagggctCccgcaccaggcccccagagc	8	3	12	18	3	1	2	1	1	0	1	2	3	2	2	5	3	1	2	5	3	1	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:21050978C>T	ENST00000375031.1	-	5	913	c.289G>A	c.(289-291)Gag>Aag	p.E97K	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Missense_Mutation_p.E181K	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	97										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGAAGGGCTCCCGCACCAGG	0.692													7	15					0	0	0	0	T	21050978	C	T	21050978	3	4	277	1	0	0	0	0	1	0	0	0	14324	864	30	2	750	2	SH2D5	1	21050978	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1545404	21050978	228199643	8	49602											
EPHA8	2046	broad.mit.edu	37	chr1	22927210	22927212	+	In_Frame_Del	DEL	CTC	CTC	-																															gccatcgccttccgcaccttCtcctcggccagcgacgtgtg																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:22927210_22927212delCTC	ENST00000166244.3	+	14	2517_2519	c.2445_2447delCTC	c.(2443-2448)ttc>tt	p.FS815del		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	815	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCGCACCTTCTCCTCGGCCAGC	0.665													22	75	---	---	---	---					-	22927212	CTC	-	22927210	7	5	277	1	0	1	0	1	0	0	0	0	5211	912	32	0	2672	0	EPHA8	1	22927210	In_Frame_Del	DEL	CTC	TCGA-CV-7099-01A-41D-2012-08	1876232	22927210	226323411	9	49603											
SFN	2810	broad.mit.edu	37	chr1	27190444	27190444	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggctccccaggagccccaGagctgagtgttgcccgccac	7	5	13	16	1	0	2	0	1	0	1	1	4	1	3	6	2	3	3	6	2	0	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:27190444G>C	ENST00000339276.4	+	1	812	c.741G>C	c.(739-741)caG>caC	p.Q247H		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	247					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGGAGCCCCAGAGCTGAGTGT	0.687													7	21					0	0	0	0	C	27190444	G	C	27190444	3	2	277	1	0	0	0	0	1	0	0	0	14246	933	33	2	743	2	SFN	1	27190444	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	4263234	27190444	222060177	10	49604											
COL16A1	1307	broad.mit.edu	37	chr1	32134424	32134424	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctcccccttgtctccagtCaggcccgtgagacctcgctc	4	9	10	18	2	2	1	1	1	1	1	6	2	3	1	5	2	0	2	5	2	0	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:32134424C>T	ENST00000373672.3	-	50	3744	c.3228G>A	c.(3226-3228)ctG>ctA	p.L1076L	COL16A1_ENST00000271069.6_Silent_p.L1076L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1076	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGTCTCCAGTCAGGCCCGTGA	0.617													22	37					0	0	0	0	T	32134424	C	T	32134424	2	4	277	1	0	0	0	0	0	0	0	1	3703	813	29	2		2	COL16A1	1	32134424	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	4943980	32134424	217116197	11	49605											
KIAA1522	57648	broad.mit.edu	37	chr1	33237233	33237233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcagctccccggctgcttCgtcctcctcagctactgctt	3	13	8	17	2	2	0	2	0	0	0	6	0	5	0	4	1	5	5	4	1	1	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:33237233C>T	ENST00000401073.2	+	6	2523	c.2453C>T	c.(2452-2454)tCg>tTg	p.S818L	KIAA1522_ENST00000373481.3_Missense_Mutation_p.S770L|KIAA1522_ENST00000373480.1_Missense_Mutation_p.S759L|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	759	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCGGCTGCTTCGTCCTCCTCA	0.652													19	42					0	0	0	0	T	33237233	C	T	33237233	3	4	277	1	0	0	0	0	1	0	0	0	8289	893	31	1	2475	1	KIAA1522	1	33237233	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1102809	33237233	216013388	12	49606											
CCDC30	728621	broad.mit.edu	37	chr1	43047055	43047055	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggacctgcagcggaaattaGaacatgctcataaagtctgt	13	10	10	8	1	2	1	1	0	1	1	2	3	2	3	1	2	4	2	1	2	5	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:43047055G>C	ENST00000428554.2	+	15	2233	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q	CCDC30_ENST00000342022.4_Missense_Mutation_p.E364Q|CCDC30_ENST00000390640.4_Missense_Mutation_p.E153Q|CCDC30_ENST00000340612.4_Missense_Mutation_p.E364Q|CCDC30_ENST00000507855.1_Missense_Mutation_p.E153Q			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	364										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GCGGAAATTAGAACATGCTCA	0.338													17	71					0	0	0	0	C	43047055	G	C	43047055	3	2	277	1	0	0	0	0	1	0	0	0	2831	943	33	2	1116	2	CCDC30	1	43047055	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	9809822	43047055	206203566	13	49607											
ZSWIM5	57643	broad.mit.edu	37	chr1	45485782	45485782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatcgtaccatctccctgCgtctccagttaagggttgat	8	12	8	13	2	2	1	0	1	2	0	5	1	2	1	4	1	2	3	4	1	2	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:45485782C>T	ENST00000359600.5	-	13	2856	c.2651G>A	c.(2650-2652)cGc>cAc	p.R884H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	884							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CATCTCCCTGCGTCTCCAGTT	0.552													9	25					0	0	0	0	T	45485782	C	T	45485782	3	4	277	1	0	0	0	0	1	0	0	0	18335	768	27	1	914	1	ZSWIM5	1	45485782	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2438727	45485782	203764839	14	49608											
GBP1	2633	broad.mit.edu	37	chr1	89521738	89521738	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcatagtactttttcttCaggtcttgtagcttctgaac	7	18	6	10	0	5	1	2	1	3	0	6	1	6	1	1	1	3	3	1	1	4	8			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:89521738C>T	ENST00000370473.4	-	8	1548	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	443					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ACTTTTTCTTCAGGTCTTGTA	0.438													77	186					0	0	0	0	T	89521738	C	T	89521738	2	4	277	1	0	0	0	0	0	0	0	1	6322	813	29	2		2	GBP1	1	89521738	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	44035956	89521738	159728883	15	49609											
BTBD8	284697	broad.mit.edu	37	chr1	92613302	92613302	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttgcaaatatacctcctGagattcagaaaagttgtctt	12	14	7	8	0	2	2	1	1	1	2	3	3	3	2	2	0	2	3	2	0	5	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:92613302G>C	ENST00000342818.3	+	9	1317	c.1081G>C	c.(1081-1083)Gag>Cag	p.E361Q	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	361						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TATACCTCCTGAGATTCAGAA	0.308													15	20					0	0	0	0	C	92613302	G	C	92613302	3	2	277	1	0	0	0	0	1	0	0	0	1556	1291	45	2	1115	2	BTBD8	1	92613302	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	3091564	92613302	156637319	16	49610											
AP4B1	10717	broad.mit.edu	37	chr1	114442970	114442970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactgcggggttggtagcGtagcagaaagttcaatactt	10	11	12	8	2	2	1	2	0	0	1	2	1	2	1	0	3	4	5	0	3	5	6	rs138216814		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:114442970G>A	ENST00000369569.1	-	5	950	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C	AP4B1_ENST00000369566.3_Missense_Mutation_p.R131C|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.R224C|AP4B1_ENST00000369567.1_Missense_Mutation_p.R56C	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	224					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTTGGTAGCGTAGCAGAAAG	0.428													14	39					0	0	0	0	A	114442970	G	A	114442970	3	1	277	1	0	0	0	0	1	0	0	0	752	1145	40	1	1573	1	AP4B1	1	114442970	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	21829668	114442970	134807651	17	49611											
DENND2C	163259	broad.mit.edu	37	chr1	115153710	115153710	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactctttggcagatactcGgcatcactttcgttcccact	7	14	6	14	2	3	1	2	0	1	1	6	1	4	1	1	2	1	3	1	2	1	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:115153710G>C	ENST00000393274.1	-	9	1978	c.1353C>G	c.(1351-1353)gcC>gcG	p.A451A	DENND2C_ENST00000393276.3_Silent_p.A394A|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Silent_p.A451A	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	451										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		GCAGATACTCGGCATCACTTT	0.458													5	75					0	0	0	0	C	115153710	G	C	115153710	2	2	277	1	0	0	0	0	0	0	0	1	4467	1103	39	3		3	DENND2C	1	115153710	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	710740	115153710	134096911	18	49612											
ACP6	51205	broad.mit.edu	37	chr1	147131131	147131131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgggtggactccagattcCgaaaaatgttagtggaacga	14	8	12	7	3	0	1	0	0	0	1	2	5	2	3	2	3	2	1	2	3	5	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:147131131C>T	ENST00000369238.5	-	4	950	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	ACP6_ENST00000392988.2_Missense_Mutation_p.R168Q	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	168					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					CTCCAGATTCCGAAAAATGTT	0.413													33	76					0	0	0	0	T	147131131	C	T	147131131	3	4	277	1	0	0	0	0	1	0	0	0	165	652	23	1	811	1	ACP6	1	147131131	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	31977421	147131131	102119490	19	49613											
MTMR11	10903	broad.mit.edu	37	chr1	149905304	149905304	+	Missense_Mutation	SNP	A	A	T																															aaaggttattctcaccaggcAggcagagggccctcagcctc																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:149905304A>T	ENST00000439741.2	-	10	1230	c.980T>A	c.(979-981)cTg>cAg	p.L327Q	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Missense_Mutation_p.L299Q|MTMR11_ENST00000369140.3_Missense_Mutation_p.L255Q	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	327	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTCACCAGGCAGGCAGAGGGC	0.557													36	101					0	0	0	0	T	149905304	A	T	149905304	3	4	277	1	0	0	0	0	1	0	0	0	10010	188	7	5	1220	5	MTMR11	1	149905304	Missense_Mutation	SNP	A	TCGA-CV-7099-01A-41D-2012-08	2774173	149905304	99345317	20	49614	386	2									
MTMR11	10903	broad.mit.edu	37	chr1	149905305	149905305	+	Missense_Mutation	SNP	G	G	T																															aaggttattctcaccaggcaGgcagagggccctcagcctca																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:149905305G>T	ENST00000439741.2	-	10	1229	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Missense_Mutation_p.L299M|MTMR11_ENST00000369140.3_Missense_Mutation_p.L255M	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	327	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCACCAGGCAGGCAGAGGGCC	0.557													38	103					8.73648e-17	1.30933e-16	1	0	T	149905305	G	T	149905305	3	4	277	1	0	0	0	0	1	0	0	0	10010	991	35	4	1221	4	MTMR11	1	149905305	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1	149905305	99345316	21	49615	386	2									
FLG	2312	broad.mit.edu	37	chr1	152282919	152282919	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctgaccgtcttgggaTgctgagtgcctagagctgtt	5	13	14	9	1	1	3	0	2	1	1	2	4	2	4	3	1	3	3	3	1	1	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:152282919T>C	ENST00000368799.1	-	3	4478	c.4443A>G	c.(4441-4443)gcA>gcG	p.A1481A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1481	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCTTGGGATGCTGAGTGCC	0.567									Ichthyosis				16	356					0	0	0	0	C	152282919	T	C	152282919	2	2	277	1	0	0	0	0	0	0	0	1	5967	1451	51	5		5	FLG	1	152282919	Silent	SNP	T	TCGA-CV-7099-01A-41D-2012-08	2377614	152282919	96967702	22	49616											
UBE2Q1	55585	broad.mit.edu	37	chr1	154523963	154523963	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctatggagtaggcactgctCcagccctgggtgaagggaag	9	8	15	9	0	1	1	0	1	1	0	2	3	2	3	2	4	2	3	2	4	4	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:154523963C>G	ENST00000292211.4	-	11	1159	c.1080G>C	c.(1078-1080)tgG>tgC	p.W360C		NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	360							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGGCACTGCTCCAGCCCTGGG	0.537													42	65					0	0	0	0	G	154523963	C	G	154523963	3	3	277	1	0	0	0	0	1	0	0	0	16965	856	30	2	200	2	UBE2Q1	1	154523963	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2241044	154523963	94726658	23	49617											
KIAA0907	22889	broad.mit.edu	37	chr1	155887369	155887369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgcctggggctgacttGggagtgggggctggggctgg	2	10	22	7	0	1	1	0	1	1	0	1	2	1	2	1	8	1	3	1	8	0	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:155887369G>C	ENST00000368320.3	-	11	1386	c.1361C>G	c.(1360-1362)cCa>cGa	p.P454R	KIAA0907_ENST00000368321.3_Missense_Mutation_p.P454R			Q7Z7F0	K0907_HUMAN	KIAA0907	454	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGGCTGACTTGGGAGTGgggg	0.562													25	41					0	0	0	0	C	155887369	G	C	155887369	3	2	277	1	0	0	0	0	1	0	0	0	8250	1348	47	4	499	4	KIAA0907	1	155887369	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1363406	155887369	93363252	24	49618											
OR10X1	128367	broad.mit.edu	37	chr1	158548948	158548948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggccttctgcttgccctCagctgaagggatcctgagga	8	9	13	11	0	2	2	1	2	1	0	3	5	3	4	3	3	3	2	3	3	2	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:158548948C>T	ENST00000368150.1	-	1	741	c.742G>A	c.(742-744)Gag>Aag	p.E248K		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGCTTGCCCTCAGCTGAAGGG	0.473													41	81					0	0	0	0	T	158548948	C	T	158548948	3	4	277	1	0	0	0	0	1	0	0	0	10993	835	29	2	233	2	OR10X1	1	158548948	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2661579	158548948	90701673	25	49619											
ATP1A4	480	broad.mit.edu	37	chr1	160156138	160156138	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaaatcagaaaactcctCatccgtcagcacccggatgg	13	7	9	12	2	3	2	3	1	0	1	5	4	5	3	3	2	2	1	3	2	3	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:160156138C>T	ENST00000368081.4	+	21	3513	c.3042C>T	c.(3040-3042)ctC>ctT	p.L1014L	ATP1A4_ENST00000470705.1_Silent_p.L150L	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	1014				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAAAACTCCTCATCCGTCAGC	0.562													38	123					0	0	0	0	T	160156138	C	T	160156138	2	4	277	1	0	0	0	0	0	0	0	1	1135	813	29	2		2	ATP1A4	1	160156138	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1607190	160156138	89094483	26	49620											
COPA	1314	broad.mit.edu	37	chr1	160275281	160275281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagataaataccccactctCatcccaggccccactcttga	12	9	4	16	0	2	2	1	1	2	1	4	2	3	2	5	1	1	0	5	1	4	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:160275281C>T	ENST00000241704.7	-	17	1838	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	COPA_ENST00000368069.3_Missense_Mutation_p.E546K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	537					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCCCACTCTCATCCCAGGCC	0.438													7	124					0	0	0	0	T	160275281	C	T	160275281	3	4	277	1	0	0	0	0	1	0	0	0	3757	835	29	2	2133	2	COPA	1	160275281	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	119143	160275281	88975340	27	49621											
RCSD1	92241	broad.mit.edu	37	chr1	167666869	167666872	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															gaacatgacagccaagaaacAaagaagctggaggagggagc																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:167666869_167666872delAAAG	ENST00000367854.3	+	6	1339_1342	c.1008_1011delAAAG	c.(1006-1011)acfs	p.TK336fs	RCSD1_ENST00000537350.1_Frame_Shift_Del_p.TK306fs	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	336										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCCAAGAAACAAAGAAGCTGGAGG	0.554													5	11	---	---	---	---					-	167666872	AAAG	-	167666869	7	5	277	1	0	1	0	1	0	0	0	0	13267	117	5	0	1030	0	RCSD1	1	167666869	Frame_Shift_Del	DEL	AAAG	TCGA-CV-7099-01A-41D-2012-08	7391588	167666869	81583752	28	49622											
NPHS2	7827	broad.mit.edu	37	chr1	179533893	179533893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggaaatgaggacaagaaGccactcacaggcccctaagc	15	3	11	12	0	1	2	1	1	0	1	1	4	1	4	3	3	2	0	3	3	4	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:179533893G>T	ENST00000367615.4	-	2	378	c.310C>A	c.(310-312)Ctt>Att	p.L104I	NPHS2_ENST00000367616.4_Missense_Mutation_p.L104I	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	104					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						AGGACAAGAAGCCACTCACAG	0.398													13	28					6.31663e-08	9.2024e-08	1	0	T	179533893	G	T	179533893	3	4	277	1	0	0	0	0	1	0	0	0	10653	971	34	4	869	4	NPHS2	1	179533893	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	11867024	179533893	69716728	29	49623											
CEP350	9857	broad.mit.edu	37	chr1	180012229	180012229	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcatatctcagatgctgtCgtggcttcaggagctcccct	7	12	9	13	1	3	1	3	0	1	1	6	2	4	2	2	2	2	3	2	2	1	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:180012229C>T	ENST00000367607.3	+	20	4819	c.4401C>T	c.(4399-4401)gtC>gtT	p.V1467V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1467						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGATGCTGTCGTGGCTTCAG	0.448													41	87					0	0	0	0	T	180012229	C	T	180012229	2	4	277	1	0	0	0	0	0	0	0	1	3283	871	31	1		1	CEP350	1	180012229	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	478336	180012229	69238392	30	49624											
XPR1	9213	broad.mit.edu	37	chr1	180601389	180601389	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcactcccgagtggaggaagCaatacatccagtatgaggta	13	8	11	9	1	1	1	1	1	0	0	3	4	3	3	2	3	2	3	2	3	5	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:180601389C>G	ENST00000367590.4	+	1	250	c.52C>G	c.(52-54)Caa>Gaa	p.Q18E	XPR1_ENST00000367589.3_Missense_Mutation_p.Q18E	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	18	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GTGGAGGAAGCAATACATCCA	0.647													5	4					0	0	0	0	G	180601389	C	G	180601389	3	3	277	1	0	0	0	0	1	0	0	0	17547	711	25	4	54	4	XPR1	1	180601389	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	589160	180601389	68649232	31	49625											
IGFN1	91156	broad.mit.edu	37	chr1	201190818	201190818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgacagcagttaatgaagGaggccagagccagcccagtg	12	5	15	9	0	0	3	0	2	0	1	0	4	0	4	3	3	3	2	3	3	2	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:201190818G>T	ENST00000335211.4	+	19	10275	c.10145G>T	c.(10144-10146)gGa>gTa	p.G3382V	IGFN1_ENST00000295591.8_Missense_Mutation_p.G542V	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTTAATGAAGGAGGCCAGAGC	0.637													23	32					2.48779e-11	3.68991e-11	1	0	T	201190818	G	T	201190818	3	4	277	1	0	0	0	0	1	0	0	0	7643	1174	41	2	10215	2	IGFN1	1	201190818	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	20589429	201190818	48059803	32	49626											
NUAK2	81788	broad.mit.edu	37	chr1	205290541	205290541	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaccaggcgccccgagctCtcccgcgccttcttcacctt	4	9	7	21	4	4	0	2	0	2	0	5	1	4	0	6	1	1	1	6	1	0	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:205290541C>G	ENST00000367157.3	-	1	342	c.216G>C	c.(214-216)gaG>gaC	p.E72D		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	72	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCCCCGAGCTCTCCCGCGCCT	0.731													19	40					0	0	0	0	G	205290541	C	G	205290541	3	3	277	1	0	0	0	0	1	0	0	0	10784	912	32	2	1698	2	NUAK2	1	205290541	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	4099723	205290541	43960080	33	49627											
FAIM3	9214	broad.mit.edu	37	chr1	207085264	207085264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggggaggagtggtgaactGgagggaccttgcccctttga	7	9	18	7	0	0	2	0	2	0	0	0	6	0	6	3	6	2	0	3	6	1	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:207085264G>A	ENST00000367091.3	-	4	664	c.521C>T	c.(520-522)cCa>cTa	p.P174L	FAIM3_ENST00000420007.2_Missense_Mutation_p.P174L|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Missense_Mutation_p.P62L	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	174					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GTGGTGAACTGGAGGGACCTT	0.542											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	25					0	0	0	0	A	207085264	G	A	207085264	3	1	277	1	0	0	0	0	1	0	0	0	5418	1348	47	4	671	4	FAIM3	1	207085264	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1794723	207085264	42165357	34	49628											
PLXNA2	5362	broad.mit.edu	37	chr1	208257734	208257734	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgttttcttaccgagctgttCtgacactgaacgctggagct	7	13	10	11	3	2	2	0	2	2	0	2	4	2	3	1	1	4	5	1	1	2	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:208257734C>T	ENST00000367033.3	-	10	3046	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	763					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCGAGCTGTTCTGACACTGAA	0.627													19	42					0	0	0	0	T	208257734	C	T	208257734	2	4	277	1	0	0	0	0	0	0	0	1	12192	912	32	2		2	PLXNA2	1	208257734	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1172470	208257734	40992887	35	49629											
RRP15	51018	broad.mit.edu	37	chr1	218504373	218504373	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctatgaaagactgggaCaaggaaagtgatgggccaga	15	6	14	6	0	1	4	0	2	1	2	1	6	1	6	1	3	0	1	1	3	4	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:218504373C>A	ENST00000366932.3	+	5	819	c.789C>A	c.(787-789)gaC>gaA	p.D263E		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	263						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AAGACTGGGACAAGGAAAGTG	0.408													8	18					1.12685e-05	1.62925e-05	1	0	A	218504373	C	A	218504373	3	1	277	1	0	0	0	0	1	0	0	0	13772	477	17	4	807	4	RRP15	1	218504373	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	10246639	218504373	30746248	36	49630											
OR2T11	127077	broad.mit.edu	37	chr1	248789544	248789544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacctttttaaatgcccCtatgacgtccttgtttctga	10	16	5	10	1	1	2	0	2	1	0	2	2	2	2	4	0	2	1	4	0	5	7			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:248789544C>T	ENST00000330803.2	-	1	947	c.886G>A	c.(886-888)Ggg>Agg	p.G296R		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTAAATGCCCCTATGACGTCC	0.473													24	58					0	0	0	0	T	248789544	C	T	248789544	3	4	277	1	0	0	0	0	1	0	0	0	11089	681	24	4	68	4	OR2T11	1	248789544	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	30285171	248789544	461077	37	49631											
KIF3C	3797	broad.mit.edu	37	chr2	26204430	26204430	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctcaaaggcattcgggatGaccccgcgcagctcgggctc	7	7	13	14	4	1	1	1	1	0	0	4	2	1	2	2	3	2	5	2	3	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:26204430G>C	ENST00000264712.3	-	1	936	c.357C>G	c.(355-357)gtC>gtG	p.V119V	KIF3C_ENST00000405914.1_Silent_p.V119V	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	119	Kinesin-motor.				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)					CATTCGGGATGACCCCGCGCA	0.587													23	65					0	0	0	0	C	26204430	G	C	26204430	2	2	277	1	0	0	0	0	0	0	0	1	8353	1277	45	2		2	KIF3C	2	26204430	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08		26204430	216994943	38	49632											
C2orf16	84226	broad.mit.edu	37	chr2	27804899	27804899	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgtcacagtctcttggagagGagccatcgcagtccctctga	8	9	11	13	2	3	2	1	1	2	1	6	4	4	3	2	2	1	1	2	2	0	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:27804899G>C	ENST00000408964.2	+	1	5511	c.5460G>C	c.(5458-5460)agG>agC	p.R1820S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1820	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCTTGGAGAGGAGCCATCGCA	0.542													38	93					0	0	0	0	C	27804899	G	C	27804899	3	2	277	1	0	0	0	0	1	0	0	0	2177	1165	41	2	5462	2	C2orf16	2	27804899	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1600469	27804899	215394474	39	49633											
FOSL2	2355	broad.mit.edu	37	chr2	28634937	28634938	+	Frame_Shift_Ins	INS	-	-	CCAG																															ccgaggagcgccgatcgcccINSccagcccctgggctgcagcc																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:28634937_28634938insCCAG	ENST00000264716.4	+	4	1466_1467	c.603_604insCCAG	c.(601-606)cccagcfs	p.S202fs	FOSL2_ENST00000545753.1_Frame_Shift_Ins_p.S163fs|FOSL2_ENST00000379619.1_Frame_Shift_Ins_p.S194fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	202					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GCCGATCGCCCCCAGCCCCTGG	0.644													11	75	---	---	---	---					CCAG	28634938	-	CCAG	28634937	7	5	277	1	0	1	1	0	0	0	0	0	6033	610	22	0	617	0	FOSL2	2	28634937	Frame_Shift_Ins	INS	-	TCGA-CV-7099-01A-41D-2012-08	830038	28634937	214564436	40	49634											
BIRC6	57448	broad.mit.edu	37	chr2	32667175	32667175	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttttcagaatttcatgaGaagcttgttaatactctttg	11	17	7	6	0	3	2	2	1	1	2	3	3	3	2	0	0	2	3	0	0	4	7			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:32667175G>A	ENST00000421745.2	+	18	4121	c.3987G>A	c.(3985-3987)gaG>gaA	p.E1329E		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1329					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATTTCATGAGAAGCTTGTTA	0.378													16	59					0	0	0	0	A	32667175	G	A	32667175	2	1	277	1	0	0	0	0	0	0	0	1	1443	933	33	2		2	BIRC6	2	32667175	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	4032238	32667175	210532198	41	49635											
MCFD2	90411	broad.mit.edu	37	chr2	47136232	47136232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagctggctgcaggctcctCagccctggcgcctggggcac	5	6	15	15	1	1	0	1	0	0	0	2	1	2	0	3	5	3	5	3	5	1	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:47136232C>T	ENST00000409105.1	-	3	258	c.79G>A	c.(79-81)Gag>Aag	p.E27K	MCFD2_ENST00000319466.4_Missense_Mutation_p.E27K|MCFD2_ENST00000409913.1_Intron|MCFD2_ENST00000409800.1_Intron|MCFD2_ENST00000409147.1_Intron|MCFD2_ENST00000409218.1_Missense_Mutation_p.E27K|MCFD2_ENST00000409207.1_Missense_Mutation_p.E27K|MCFD2_ENST00000444761.2_Intron|MCFD2_ENST00000493804.1_Intron|MCFD2_ENST00000409973.1_Missense_Mutation_p.E27K	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	27					post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	GCAGGCTCCTCAGCCCTGGCG	0.592													13	40					0	0	0	0	T	47136232	C	T	47136232	3	4	277	1	0	0	0	0	1	0	0	0	9450	835	29	2	373	2	MCFD2	2	47136232	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	14469057	47136232	196063141	42	49636											
SPTBN1	6711	broad.mit.edu	37	chr2	54856684	54856684	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccttgacacgctgcacGaacaagccagcgccctcccc	9	4	7	21	3	0	1	0	1	0	0	1	2	1	1	6	0	4	2	6	0	2	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:54856684G>T	ENST00000333896.5	+	13	2759	c.2374G>T	c.(2374-2376)Gaa>Taa	p.E792*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.E805*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	805					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.E805K(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CACGCTGCACGAACAAGCCAG	0.607													18	55					1.67942e-08	2.45914e-08	1	0	T	54856684	G	T	54856684	4	4	277	1	0	0	0	0	0	1	0	0	15209	1059	37	3	2576	3	SPTBN1	2	54856684	Nonsense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	7720452	54856684	188342689	43	49637											
PROKR1	10887	broad.mit.edu	37	chr2	68882429	68882429	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatgctgggcgcccttctaCggcttcaccatcgtgcgcga	5	10	11	15	5	2	0	1	0	1	0	3	1	2	0	2	2	3	2	2	2	2	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:68882429C>T	ENST00000303786.3	+	3	1323	c.903C>T	c.(901-903)taC>taT	p.Y301Y	PROKR1_ENST00000394342.2_Silent_p.Y301Y			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	301						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CGCCCTTCTACGGCTTCACCA	0.587													18	45					0	0	0	0	T	68882429	C	T	68882429	2	4	277	1	0	0	0	0	0	0	0	1	12632	547	19	1		1	PROKR1	2	68882429	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	14025745	68882429	174316944	44	49638											
ZNF638	27332	broad.mit.edu	37	chr2	71576307	71576307	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatgaatgttcaggtaactCaacacagaactgatccaaga	17	8	8	8	0	2	4	2	2	0	2	3	5	3	4	1	1	3	2	1	1	6	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:71576307C>G	ENST00000409544.1	+	2	853	c.223C>G	c.(223-225)Caa>Gaa	p.Q75E	ZNF638_ENST00000264447.4_Missense_Mutation_p.Q75E|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.Q75E|ZNF638_ENST00000377802.2_Missense_Mutation_p.Q75E	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	75					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCAGGTAACTCAACACAGAAC	0.463													3	95					0	0	0	0	G	71576307	C	G	71576307	3	3	277	1	0	0	0	0	1	0	0	0	18150	827	29	2	225	2	ZNF638	2	71576307	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2693878	71576307	171623066	45	49639											
ALMS1	7840	broad.mit.edu	37	chr2	73676052	73676052	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggaccagctgaccagAagactggcctaccaacagta	12	7	10	12	0	0	3	0	1	0	2	0	4	0	4	4	2	4	3	4	2	4	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:73676052A>G	ENST00000264448.6	+	8	2506	c.2395A>G	c.(2395-2397)Aag>Gag	p.K799E	ALMS1_ENST00000409009.1_Missense_Mutation_p.K757E|ALMS1_ENST00000377715.1_Missense_Mutation_p.K799E	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	799	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGCTGACCAGAAGACTGGCCT	0.488													54	119					0	0	0	0	G	73676052	A	G	73676052	3	3	277	1	0	0	0	0	1	0	0	0	535	247	9	5	2425	5	ALMS1	2	73676052	Missense_Mutation	SNP	A	TCGA-CV-7099-01A-41D-2012-08	2099745	73676052	169523321	46	49640											
TEKT4	150483	broad.mit.edu	37	chr2	95539303	95539303	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacattcaggagctgctgaaGagaaccatcatgcaagcagt	15	7	10	9	0	2	2	2	1	0	1	2	4	2	3	1	1	6	4	1	1	4	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:95539303G>C	ENST00000295201.4	+	2	674	c.537G>C	c.(535-537)aaG>aaC	p.K179N	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	179					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGCTGCTGAAGAGAACCATCA	0.612													9	36					0	0	0	0	C	95539303	G	C	95539303	3	2	277	1	0	0	0	0	1	0	0	0	15849	933	33	2	543	2	TEKT4	2	95539303	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	21863251	95539303	147660070	47	49641											
CNNM3	26505	broad.mit.edu	37	chr2	97483071	97483071	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acacgcgcatcccggtgtacGaggaggagcgctccaacatc	10	5	12	14	5	0	0	0	0	0	0	3	3	2	2	2	3	3	3	2	3	2	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:97483071G>C	ENST00000305510.3	+	1	1085	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q	CNNM3_ENST00000377060.3_Missense_Mutation_p.E353Q	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	353	CBS 1.				ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CCCGGTGTACGAGGAGGAGCG	0.617													21	43					0	0	0	0	C	97483071	G	C	97483071	3	2	277	1	0	0	0	0	1	0	0	0	3644	1059	37	3	1059	3	CNNM3	2	97483071	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1943768	97483071	145716302	48	49642											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460077	107460077	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtagaaagcactttgagaTtttctccccacctgggatga	10	11	11	9	0	1	3	0	2	1	2	2	5	1	4	3	2	1	2	3	2	2	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:107460077T>G	ENST00000409382.3	-	2	967	c.357A>C	c.(355-357)aaA>aaC	p.K119N	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.K119N|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.K119N	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	119					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						CACTTTGAGATTTTCTCCCCA	0.532													13	130					0	0	0	0	G	107460077	T	G	107460077	3	3	277	1	0	0	0	0	1	0	0	0	15312	1490	52	5	1339	5	ST6GAL2	2	107460077	Missense_Mutation	SNP	T	TCGA-CV-7099-01A-41D-2012-08	9977006	107460077	135739296	49	49643											
PSD4	23550	broad.mit.edu	37	chr2	113940969	113940969	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggggacggcgctgctatCagtgggcattgtacccctcc	5	10	14	12	2	1	0	1	0	0	0	2	1	2	1	3	4	2	4	3	4	2	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:113940969C>T	ENST00000245796.6	+	2	1131	c.936C>T	c.(934-936)atC>atT	p.I312I	PSD4_ENST00000441564.2_Silent_p.I312I	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	312					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGCTGCTATCAGTGGGCATT	0.617													9	30					0	0	0	0	T	113940969	C	T	113940969	2	4	277	1	0	0	0	0	0	0	0	1	12728	816	29	2		2	PSD4	2	113940969	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	6480892	113940969	129258404	50	49644											
TMEM37	140738	broad.mit.edu	37	chr2	120194890	120194890	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggttttgtgatcctcctCaggaaccaagtcacactcat	9	12	8	12	0	3	1	3	1	0	0	5	2	5	2	3	2	1	1	3	2	2	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:120194890C>G	ENST00000306406.4	+	2	482	c.447C>G	c.(445-447)ctC>ctG	p.L149L	TMEM37_ENST00000409826.1_Silent_p.L161L|TMEM37_ENST00000465296.1_3'UTR	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	149						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TGATCCTCCTCAGGAACCAAG	0.547													80	214					0	0	0	0	G	120194890	C	G	120194890	2	3	277	1	0	0	0	0	0	0	0	1	16252	813	29	2		2	TMEM37	2	120194890	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	6253921	120194890	123004483	51	49645											
NEB	4703	broad.mit.edu	37	chr2	152512709	152512709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctggtcagctcaatgttCattgcatctggaaggaggat	9	13	11	8	0	4	0	3	0	1	0	5	3	5	3	1	4	2	3	1	4	2	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:152512709C>T	ENST00000427231.2	-	49	6655	c.6453G>A	c.(6451-6453)atG>atA	p.M2151I	NEB_ENST00000172853.10_Missense_Mutation_p.M2151I|NEB_ENST00000603639.1_Missense_Mutation_p.M2151I|NEB_ENST00000397345.3_Missense_Mutation_p.M2151I|NEB_ENST00000409198.1_Missense_Mutation_p.M2151I|NEB_ENST00000604864.1_Missense_Mutation_p.M2151I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2151					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTCAATGTTCATTGCATCTG	0.468													98	280					0	0	0	0	T	152512709	C	T	152512709	3	4	277	1	0	0	0	0	1	0	0	0	10372	826	29	2	19769	2	NEB	2	152512709	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	32317819	152512709	90686664	52	49646											
TANK	10010	broad.mit.edu	37	chr2	162060088	162060088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctaaaatctcagttacttCttgtgaattccactcaaggt	12	14	6	9	0	3	1	2	1	2	0	5	1	4	1	1	1	2	2	1	1	5	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:162060088C>T	ENST00000392749.2	+	3	429	c.190C>T	c.(190-192)Ctt>Ttt	p.L64F	TANK_ENST00000402568.1_Missense_Mutation_p.L123F|TANK_ENST00000405852.1_Missense_Mutation_p.L64F|TANK_ENST00000403609.1_Missense_Mutation_p.L64F|TANK_ENST00000457476.1_Missense_Mutation_p.L64F|TANK_ENST00000259075.2_Missense_Mutation_p.L64F|TANK_ENST00000406287.1_Missense_Mutation_p.L122F	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	64						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TCAGTTACTTCTTGTGAATTC	0.343													15	29					0	0	0	0	T	162060088	C	T	162060088	3	4	277	1	0	0	0	0	1	0	0	0	15637	913	32	2	196	2	TANK	2	162060088	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	9547379	162060088	81139285	53	49647											
TBR1	10716	broad.mit.edu	37	chr2	162273175	162273175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagaagtaaactctctcCtgtcttggacggggtctctg	8	11	11	11	1	3	1	0	0	3	1	6	3	4	2	2	3	1	1	2	3	3	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:162273175C>T	ENST00000389554.3	+	1	571	c.254C>T	c.(253-255)cCt>cTt	p.P85L		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	85						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						AAACTCTCTCCTGTCTTGGAC	0.522													11	142					0	0	0	0	T	162273175	C	T	162273175	3	4	277	1	0	0	0	0	1	0	0	0	15741	681	24	4	256	4	TBR1	2	162273175	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	213087	162273175	80926198	54	49648											
KCNH7	90134	broad.mit.edu	37	chr2	163693250	163693250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatggcacagttctgcactCtggcatttgcaatgataaat	11	13	9	8	0	2	2	0	2	2	0	2	2	2	2	0	2	2	5	0	2	3	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:163693250C>T	ENST00000332142.5	-	2	203	c.104G>A	c.(103-105)aGa>aAa	p.R35K	KCNH7_ENST00000328032.4_Missense_Mutation_p.R35K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	35					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.R35I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GTTCTGCACTCTGGCATTTGC	0.403													10	16					0	0	0	0	T	163693250	C	T	163693250	3	4	277	1	0	0	0	0	1	0	0	0	8090	913	32	2	3612	2	KCNH7	2	163693250	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1420075	163693250	79506123	55	49649											
NFE2L2	4780	broad.mit.edu	37	chr2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggagaaattcacctgtctCttcatctagttgtaactgag	10	14	9	8	0	4	2	2	1	2	1	5	3	4	2	1	1	1	2	1	1	3	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			6	59					0	0	0	0	T	178098810	C	T	178098810	3	4	277	1	0	0	0	0	1	0	0	0	10438	922	32	2	1598	2	NFE2L2	2	178098810	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	14405560	178098810	65100563	56	49650											
SATB2	23314	broad.mit.edu	37	chr2	200137185	200137185	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtttggggagatccagctGagccgaaagagtgtggatgg	9	9	18	5	1	0	3	0	1	0	2	1	6	1	4	2	4	2	2	2	4	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:200137185G>A	ENST00000443023.1	-	10	3239	c.1774C>T	c.(1774-1776)Cag>Tag	p.Q592*	SATB2_ENST00000428695.1_Nonsense_Mutation_p.Q533*|SATB2_ENST00000417098.1_Nonsense_Mutation_p.Q651*|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Q651*|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Q651*			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	651						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.Q651*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGATCCAGCTGAGCCGAAAGA	0.542													26	57					0	0	0	0	A	200137185	G	A	200137185	4	1	277	1	0	0	0	0	0	1	0	0	13940	1299	45	2	254	2	SATB2	2	200137185	Nonsense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	22038375	200137185	43062188	57	49651											
CASP8	841	broad.mit.edu	37	chr2	202151270	202151270	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatggggaaacagatgcctCagcctactttcacactaaga	14	8	8	11	0	2	2	2	0	0	2	2	3	2	3	2	2	4	0	2	2	3	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:202151270C>T	ENST00000358485.4	+	9	1766	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q465*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	465					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.Q482*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACAGATGCCTCAGCCTACTTT	0.373										HNSCC(4;0.00038)			10	19					0	0	0	0	T	202151270	C	T	202151270	4	4	277	1	0	0	0	0	0	1	0	0	2702	827	29	2	1704	2	CASP8	2	202151270	Nonsense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2014085	202151270	41048103	58	49652											
INO80D	54891	broad.mit.edu	37	chr2	206869474	206869474	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagaaggttgctaaatggaGaggggtctccaaggttgaca	12	8	15	6	1	1	3	0	1	1	2	2	5	1	3	1	5	1	3	1	5	4	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:206869474G>C	ENST00000403263.1	-	11	3106	c.2702C>G	c.(2701-2703)tCt>tGt	p.S901C		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	633					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S796C(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GCTAAATGGAGAGGGGTCTCC	0.567													20	39					0	0	0	0	C	206869474	G	C	206869474	3	2	277	1	0	0	0	0	1	0	0	0	7802	942	33	2	385	2	INO80D	2	206869474	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	4718204	206869474	36329899	59	49653											
SEPT2	4735	broad.mit.edu	37	chr2	242282467	242282467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttacctgatgcagaatcaGatgaagatgaagattttaaa	17	11	8	5	0	1	7	1	3	0	4	1	7	1	7	1	0	2	1	1	0	6	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:242282467G>A	ENST00000391973.2	+	8	1183	c.655G>A	c.(655-657)Gat>Aat	p.D219N	SEPT2_ENST00000401990.1_Missense_Mutation_p.D229N|SEPT2_ENST00000407971.1_Missense_Mutation_p.D179N|SEPT2_ENST00000402092.2_Missense_Mutation_p.D219N|SEPT2_ENST00000360051.3_Missense_Mutation_p.D219N|SEPT2_ENST00000391971.2_Missense_Mutation_p.D219N	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	219					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TGCAGAATCAGATGAAGATGA	0.358													45	107					0	0	0	0	A	242282467	G	A	242282467	3	1	277	1	0	0	0	0	1	0	0	0	14151	942	33	2	681	2	SEPT2	2	242282467	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	35412993	242282467	916906	60	49654											
CNTN4	152330	broad.mit.edu	37	chr3	2777987	2777987	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggagaaaaaagtgaagctCaattgtgaagttaaaggaaa	20	7	12	2	0	1	3	1	2	0	1	1	6	1	4	0	2	1	2	0	2	9	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:2777987C>G	ENST00000397461.1	+	4	528	c.144C>G	c.(142-144)ctC>ctG	p.L48L	CNTN4_ENST00000418658.1_Silent_p.L48L|CNTN4_ENST00000427331.1_Silent_p.L48L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	48	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAGTGAAGCTCAATTGTGAAG	0.348													9	84					0	0	0	0	G	2777987	C	G	2777987	2	3	277	1	0	0	0	0	0	0	0	1	3673	813	29	2		2	CNTN4	3	2777987	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08		2777987	195244443	61	49655											
RPUSD3	285367	broad.mit.edu	37	chr3	9879867	9879867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggggtcaggtggaggcGtctgaggagggcttcatcca	7	7	20	7	1	3	1	2	1	1	0	4	4	4	4	1	8	0	1	1	8	0	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:9879867G>A	ENST00000383820.5	-	9	890	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Missense_Mutation_p.R282C|RPUSD3_ENST00000424438.1_3'UTR	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	297					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					AGGTGGAGGCGTCTGAGGAGG	0.622													7	40					0	0	0	0	A	9879867	G	A	9879867	3	1	277	1	0	0	0	0	1	0	0	0	13753	1145	40	1	170	1	RPUSD3	3	9879867	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	7101880	9879867	188142563	62	49656											
MST1R	4486	broad.mit.edu	37	chr3	49932708	49932708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccttagctggatggactCtttccgcagcagtggcacac	7	10	11	13	1	1	0	0	0	1	0	3	2	3	2	2	3	2	4	2	3	1	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:49932708C>T	ENST00000296474.3	-	14	3190	c.3163G>A	c.(3163-3165)Gag>Aag	p.E1055K	MST1R_ENST00000344206.4_Missense_Mutation_p.E1006K	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1055					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGATGGACTCTTTCCGCAGC	0.552													59	84					0	0	0	0	T	49932708	C	T	49932708	3	4	277	1	0	0	0	0	1	0	0	0	9961	922	32	2	1067	2	MST1R	3	49932708	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	40052841	49932708	148089722	63	49657											
CD96	10225	broad.mit.edu	37	chr3	111304196	111304196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagaaatccctgtgattgtgGaaaataactccacggatgtc	13	10	9	9	1	0	2	0	1	0	1	3	4	2	4	2	2	1	0	2	2	4	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:111304196G>A	ENST00000352690.4	+	5	1018	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	CD96_ENST00000438817.2_Missense_Mutation_p.E260K|CD96_ENST00000283285.5_Missense_Mutation_p.E276K	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	276					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TGTGATTGTGGAAAATAACTC	0.413									Opitz Trigonocephaly syndrome				6	30					0	0	0	0	A	111304196	G	A	111304196	3	1	277	1	0	0	0	0	1	0	0	0	3077	1175	41	2	848	2	CD96	3	111304196	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	61371488	111304196	86718234	64	49658											
POLQ	10721	broad.mit.edu	37	chr3	121158907	121158907	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgccttcccaaaatggtctGaacaaatccgtctcttttac	11	12	5	13	2	2	1	0	1	2	0	5	1	4	1	3	1	2	0	3	1	5	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:121158907G>C	ENST00000264233.5	-	27	7449	c.7321C>G	c.(7321-7323)Cag>Gag	p.Q2441E		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2441					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAAATGGTCTGAACAAATCCG	0.323								DNA polymerases (catalytic subunits)					16	43					0	0	0	0	C	121158907	G	C	121158907	3	2	277	1	0	0	0	0	1	0	0	0	12280	1299	45	2	467	2	POLQ	3	121158907	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	9854711	121158907	76863523	65	49659											
ALDH1L1	10840	broad.mit.edu	37	chr3	125872405	125872405	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctgaagtgttcagcgttGagttgaaaaatgtcagtttc	10	13	12	6	1	2	3	2	3	0	0	3	3	2	3	1	1	1	4	1	1	3	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:125872405G>C	ENST00000393434.2	-	7	1089	c.740C>G	c.(739-741)tCa>tGa	p.S247*	ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.S146*|ALDH1L1_ENST00000393431.2_Nonsense_Mutation_p.S247*|ALDH1L1_ENST00000455064.2_Nonsense_Mutation_p.S72*|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.S247*|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.S257*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	247					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GTTCAGCGTTGAGTTGAAAAA	0.567													18	33					0	0	0	0	C	125872405	G	C	125872405	4	2	277	1	0	0	0	0	0	1	0	0	494	1294	45	2	2036	2	ALDH1L1	3	125872405	Nonsense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	4713498	125872405	72150025	66	49660											
TPRA1	131601	broad.mit.edu	37	chr3	127294643	127294643	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgggaaggatgaccaccaGagagtagacctacagagaca	15	5	12	9	0	0	4	0	1	0	3	0	8	0	6	3	2	1	1	3	2	3	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:127294643G>A	ENST00000355552.3	-	8	995	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	TPRA1_ENST00000450633.2_Silent_p.L207L|TPRA1_ENST00000296210.7_Intron|TPRA1_ENST00000489960.1_Silent_p.L207L	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	207					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						ATGACCACCAGAGAGTAGACC	0.642													15	52					0	0	0	0	A	127294643	G	A	127294643	2	1	277	1	0	0	0	0	0	0	0	1	16512	933	33	2		2	TPRA1	3	127294643	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1422238	127294643	70727787	67	49661											
RPN1	6184	broad.mit.edu	37	chr3	128348837	128348837	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cttgggaggttgtagccaacGatgtaatgggtcttccaccc	8	11	12	10	1	1	0	0	0	1	0	2	2	2	1	3	3	2	3	3	3	3	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:128348837G>C	ENST00000296255.3	-	5	1041	c.993C>G	c.(991-993)atC>atG	p.I331M	RPN1_ENST00000497289.1_Missense_Mutation_p.I159M	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	331					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TGTAGCCAACGATGTAATGGG	0.433			T	EVI1	AML								11	30					0	0	0	0	C	128348837	G	C	128348837	3	2	277	1	0	0	0	0	1	0	0	0	13692	1048	37	3	854	3	RPN1	3	128348837	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1054194	128348837	69673593	68	49662											
NCK1	4690	broad.mit.edu	37	chr3	136667114	136667114	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttagccaaatgatttctCagtatcactaaaagcacaag	15	12	5	9	0	2	1	2	1	1	0	3	1	2	1	1	0	2	2	1	0	6	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:136667114C>G	ENST00000469404.1	+	3	852	c.761C>G	c.(760-762)tCa>tGa	p.S254*	NCK1_ENST00000481752.1_Nonsense_Mutation_p.S318*|IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000288986.2_Nonsense_Mutation_p.S318*	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	318					axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						AATGATTTCTCAGTATCACTA	0.313													3	40					0	0	0	0	G	136667114	C	G	136667114	4	3	277	1	0	0	0	0	0	1	0	0	10289	838	29	2	963	2	NCK1	3	136667114	Nonsense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	8318277	136667114	61355316	69	49663											
SLC25A36	55186	broad.mit.edu	37	chr3	140692589	140692589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggcgaatgggtgcttttGaatgtgttcgtaaagtgtat	11	14	13	3	2	0	1	0	1	0	0	1	2	0	1	0	2	1	4	0	2	6	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:140692589G>A	ENST00000446041.2	+	6	709	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	SLC25A36_ENST00000324194.6_Missense_Mutation_p.E162K|SLC25A36_ENST00000453248.2_Missense_Mutation_p.E136K	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	162					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGGTGCTTTTGAATGTGTTCG	0.353													11	23					0	0	0	0	A	140692589	G	A	140692589	3	1	277	1	0	0	0	0	1	0	0	0	14588	1291	45	2	506	2	SLC25A36	3	140692589	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	4025475	140692589	57329841	70	49664											
RNF13	11342	broad.mit.edu	37	chr3	149589832	149589832	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagggttttttgattaactCaaaaccagagaatgcctgtg	12	13	9	7	0	2	2	2	1	0	1	2	3	2	2	2	1	3	1	2	1	4	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:149589832C>G	ENST00000344229.3	+	5	914	c.212C>G	c.(211-213)tCa>tGa	p.S71*	RNF13_ENST00000392894.3_Nonsense_Mutation_p.S71*	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	71	PA.				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGATTAACTCAAAACCAGAG	0.328													6	33					0	0	0	0	G	149589832	C	G	149589832	4	3	277	1	0	0	0	0	0	1	0	0	13522	838	29	2	222	2	RNF13	3	149589832	Nonsense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	8897243	149589832	48432598	71	49665											
MED12L	116931	broad.mit.edu	37	chr3	150840608	150840608	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatattagctgagaaactGaagcttaacactttccagga	15	10	8	8	0	0	2	0	2	0	1	1	4	1	3	1	1	5	3	1	1	5	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:150840608G>A	ENST00000474524.1	+	3	281	c.243G>A	c.(241-243)ctG>ctA	p.L81L	MED12L_ENST00000422248.2_Silent_p.L81L|MED12L_ENST00000309237.4_Silent_p.L81L|MED12L_ENST00000273432.4_Silent_p.L81L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	81					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGAGAAACTGAAGCTTAACA	0.378													5	14					0	0	0	0	A	150840608	G	A	150840608	2	1	277	1	0	0	0	0	0	0	0	1	9498	1277	45	2		2	MED12L	3	150840608	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1250776	150840608	47181822	72	49666											
MECOM	2122	broad.mit.edu	37	chr3	168833803	168833803	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagggcttactttgtctttGaacattttaccattttcttt	8	20	6	7	0	2	2	0	1	2	1	2	2	2	2	1	1	3	1	1	1	3	8			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:168833803G>A	ENST00000464456.1	-	7	2493	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	MECOM_ENST00000472280.1_Silent_p.F432F|MECOM_ENST00000494292.1_Silent_p.F619F|MECOM_ENST00000468789.1_Silent_p.F431F|MECOM_ENST00000264674.3_Silent_p.F496F|MECOM_ENST00000460814.1_Silent_p.F431F|MECOM_ENST00000433243.2_Silent_p.F432F|MECOM_ENST00000392736.3_Silent_p.F431F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTTGTCTTTGAACATTTTAC	0.378													20	45					0	0	0	0	A	168833803	G	A	168833803	2	1	277	1	0	0	0	0	0	0	0	1	9491	1281	45	2		2	MECOM	3	168833803	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	17993195	168833803	29188627	73	49667											
TNIK	23043	broad.mit.edu	37	chr3	170819256	170819256	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcagtctgggtatgtcgCtgacagccactgtcccatca	9	10	9	13	1	3	1	2	1	1	0	5	1	4	1	2	1	1	2	2	1	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:170819256C>G	ENST00000436636.2	-	22	2917	c.2573G>C	c.(2572-2574)aGc>aCc	p.S858T	TNIK_ENST00000470834.1_Missense_Mutation_p.S821T|TNIK_ENST00000475336.1_Missense_Mutation_p.S766T|TNIK_ENST00000488470.1_Missense_Mutation_p.S803T|TNIK_ENST00000460047.1_Missense_Mutation_p.S795T|TNIK_ENST00000538048.1_Missense_Mutation_p.S810T|TNIK_ENST00000369326.5_Missense_Mutation_p.S836T|TNIK_ENST00000357327.5_Missense_Mutation_p.S829T|TNIK_ENST00000341852.6_Missense_Mutation_p.S774T|TNIK_ENST00000284483.8_Missense_Mutation_p.S850T	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	858	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGGTATGTCGCTGACAGCCAC	0.453													109	245					0	0	0	0	G	170819256	C	G	170819256	3	3	277	1	0	0	0	0	1	0	0	0	16407	797	28	4	1557	4	TNIK	3	170819256	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1985453	170819256	27203174	74	49668											
FXR1	8087	broad.mit.edu	37	chr3	180685989	180685989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaagaggcagaagtgtttCagggggtcgaggtcgtggtg	9	8	20	4	2	1	2	1	0	0	2	3	4	1	3	0	6	0	2	0	6	2	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:180685989C>T	ENST00000357559.4	+	14	1733	c.1349C>T	c.(1348-1350)tCa>tTa	p.S450L	FXR1_ENST00000468861.1_Missense_Mutation_p.S365L|FXR1_ENST00000491062.1_Missense_Mutation_p.S401L|FXR1_ENST00000480918.1_Missense_Mutation_p.S437L|FXR1_ENST00000445140.2_Missense_Mutation_p.S450L|FXR1_ENST00000305586.7_Missense_Mutation_p.S365L	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	450	RNA-binding RGG-box.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.S450L(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGAAGTGTTTCAGGGGGTCGA	0.512													18	38					0	0	0	0	T	180685989	C	T	180685989	3	4	277	1	0	0	0	0	1	0	0	0	6163	838	29	2	1403	2	FXR1	3	180685989	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	9866733	180685989	17336441	75	49669											
CLCN2	1181	broad.mit.edu	37	chr3	184079208	184079221	+	Frame_Shift_Del	DEL	GGTCTGCTCGTACT	GGTCTGCTCGTACT	-																															agctcagcttcacttaccagGgtctgctcgtactgcagcgc																								rs143436017		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:184079208_184079221delGGTCTGCTCGTACT	ENST00000265593.4	-	1	218_231	c.47_60delAGTACGAGCAGACC	c.(46-60)cfs	p.QYEQT16fs	CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Frame_Shift_Del_p.QYEQT16fs|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Frame_Shift_Del_p.QYEQT16fs|CLCN2_ENST00000344937.7_Frame_Shift_Del_p.QYEQT16fs	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	16						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CACTTACCAGGGTCTGCTCGTACTGCAGCGCCCG	0.692													9	56	---	---	---	---					-	184079221	GGTCTGCTCGTACT	-	184079208	7	5	277	1	0	1	0	1	0	0	0	0	3493	1219	43	0	2732	0	CLCN2	3	184079208	Frame_Shift_Del	DEL	GGTCTGCTCGTACT	TCGA-CV-7099-01A-41D-2012-08	3393219	184079208	13943222	76	49670											
EVC2	132884	broad.mit.edu	37	chr4	5586467	5586467	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggtgtaggccgacagagtCtcggtcacccgggacgcctt	6	7	15	13	5	2	1	1	0	1	1	3	3	2	2	3	4	0	1	3	4	1	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:5586467C>G	ENST00000310917.2	-	17	3431	c.2700G>C	c.(2698-2700)gaG>gaC	p.E900D	EVC2_ENST00000344938.1_Missense_Mutation_p.E980D|EVC2_ENST00000344408.5_Missense_Mutation_p.E980D	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	980						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCGACAGAGTCTCGGTCACCC	0.602													22	34					0	0	0	0	G	5586467	C	G	5586467	3	3	277	1	0	0	0	0	1	0	0	0	5324	912	32	2	1010	2	EVC2	4	5586467	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08		5586467	185567809	77	49671											
N4BP2	55728	broad.mit.edu	37	chr4	40122465	40122465	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagtgagcccaacctagaaAttggaacaaatgacaaaatg	19	7	8	7	0	0	3	0	2	0	1	0	4	0	4	2	1	3	0	2	1	8	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:40122465A>G	ENST00000261435.6	+	9	3150	c.2734A>G	c.(2734-2736)Att>Gtt	p.I912V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	912						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CAACCTAGAAATTGGAACAAA	0.413													16	43					0	0	0	0	G	40122465	A	G	40122465	3	3	277	1	0	0	0	0	1	0	0	0	10180	101	4	5	2760	5	N4BP2	4	40122465	Missense_Mutation	SNP	A	TCGA-CV-7099-01A-41D-2012-08	34535998	40122465	151031811	78	49672											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984001	41984001	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtccaaattcggagcttGgatccctcctctttggcgag	8	11	11	11	2	1	0	0	0	1	0	5	3	4	2	3	4	1	1	3	4	2	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:41984001G>C	ENST00000333141.5	+	1	289	c.192G>C	c.(190-192)ttG>ttC	p.L64F		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	64										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TTCGGAGCTTGGATCCCTCCT	0.532													3	62					0	0	0	0	C	41984001	G	C	41984001	3	2	277	1	0	0	0	0	1	0	0	0	4304	1339	47	4	194	4	DCAF4L1	4	41984001	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1861536	41984001	149170275	79	49673											
ATP8A1	10396	broad.mit.edu	37	chr4	42571206	42571206	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagagcagccataatcctCaggttcagggacatggcttc	11	8	12	10	0	2	1	2	0	0	1	4	3	3	2	2	4	2	3	2	4	1	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:42571206C>G	ENST00000381668.5	-	15	1543	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	ATP8A1_ENST00000264449.10_Intron	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	438					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCATAATCCTCAGGTTCAGGG	0.408													14	41					0	0	0	0	G	42571206	C	G	42571206	3	3	277	1	0	0	0	0	1	0	0	0	1196	835	29	2	2274	2	ATP8A1	4	42571206	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	587205	42571206	148583070	80	49674											
UGT2B17	7367	broad.mit.edu	37	chr4	69433716	69433716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagggtatgttaagtagctCagccagcagctcaccacagg	13	7	11	10	0	2	0	2	0	0	0	2	0	2	0	2	2	4	6	2	2	4	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:69433716C>T	ENST00000317746.2	-	1	529	c.487G>A	c.(487-489)Gag>Aag	p.E163K		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	163					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TTAAGTAGCTCAGCCAGCAGC	0.443													77	214					0	0	0	0	T	69433716	C	T	69433716	3	4	277	1	0	0	0	0	1	0	0	0	17055	835	29	2	1129	2	UGT2B17	4	69433716	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	26862510	69433716	121720560	81	49675											
DCK	1633	broad.mit.edu	37	chr4	71859630	71859630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgcatcaagaaaatctccatCgaagggaacatcggtaagga	16	6	10	9	3	2	1	1	0	1	1	5	4	2	3	1	3	1	2	1	3	6	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:71859630C>G	ENST00000286648.5	+	1	475	c.78C>G	c.(76-78)atC>atG	p.I26M	DCK_ENST00000504952.1_Missense_Mutation_p.I26M|DCK_ENST00000504730.1_Missense_Mutation_p.I26M|MOB1B_ENST00000511449.1_Intron	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	26					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	AAATCTCCATCGAAGGGAACA	0.602													7	15					0	0	0	0	G	71859630	C	G	71859630	3	3	277	1	0	0	0	0	1	0	0	0	4322	874	31	3	80	3	DCK	4	71859630	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2425914	71859630	119294646	82	49676											
SLC4A4	8671	broad.mit.edu	37	chr4	72423435	72423435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctttcctccccagttcatgGatcgtctgaagctgcttctg	5	15	8	13	1	4	1	1	1	3	0	7	2	6	2	3	1	2	3	3	1	1	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:72423435G>T	ENST00000340595.3	+	19	2834	c.2638G>T	c.(2638-2640)Gat>Tat	p.D880Y	SLC4A4_ENST00000264485.5_Missense_Mutation_p.D924Y|SLC4A4_ENST00000351898.6_Missense_Mutation_p.D840Y|SLC4A4_ENST00000425175.1_Missense_Mutation_p.D924Y	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	924						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCAGTTCATGGATCGTCTGAA	0.443													5	49					3.59834e-05	5.16361e-05	1	0	T	72423435	G	T	72423435	3	4	277	1	0	0	0	0	1	0	0	0	14744	1174	41	2	2973	2	SLC4A4	4	72423435	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	563805	72423435	118730841	83	49677											
FRAS1	80144	broad.mit.edu	37	chr4	79387417	79387417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgccatggcaccatcgagcGaaccagcaatgggcagcatt	12	5	11	13	3	0	0	0	0	0	0	1	2	0	0	3	2	4	4	3	2	2	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:79387417G>A	ENST00000264895.6	+	50	7525	c.7085G>A	c.(7084-7086)cGa>cAa	p.R2362Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2361					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACCATCGAGCGAACCAGCAAT	0.557													19	63					0	0	0	0	A	79387417	G	A	79387417	3	1	277	1	0	0	0	0	1	0	0	0	6089	1058	37	1	7358	1	FRAS1	4	79387417	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	6963982	79387417	111766859	84	49678											
BMP2K	55589	broad.mit.edu	37	chr4	79780824	79780824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatttgccaaaaaggattgtCcagtctccaacatcaatgta	15	11	6	9	0	2	0	1	0	1	0	4	1	3	1	3	1	2	1	3	1	6	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:79780824C>G	ENST00000335016.5	+	8	1136	c.970C>G	c.(970-972)Cca>Gca	p.P324A	BMP2K_ENST00000502871.1_Missense_Mutation_p.P324A	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	324						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AAAGGATTGTCCAGTCTCCAA	0.303													10	34					0	0	0	0	G	79780824	C	G	79780824	3	3	277	1	0	0	0	0	1	0	0	0	1465	855	30	2	1000	2	BMP2K	4	79780824	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	393407	79780824	111373452	85	49679											
HERC5	51191	broad.mit.edu	37	chr4	89426907	89426907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtcctgaaagttggaatGaaagagaccctataagagca	15	8	11	7	0	0	4	0	2	0	2	1	6	1	5	2	1	1	3	2	1	5	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:89426907G>A	ENST00000264350.3	+	23	3106	c.2953G>A	c.(2953-2955)Gaa>Aaa	p.E985K	HERC5_ENST00000508159.1_Missense_Mutation_p.E623K	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	985	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AAGTTGGAATGAAAGAGACCC	0.338													6	19					0	0	0	0	A	89426907	G	A	89426907	3	1	277	1	0	0	0	0	1	0	0	0	7111	1291	45	2	3043	2	HERC5	4	89426907	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	9646083	89426907	101727369	86	49680											
COL25A1	84570	broad.mit.edu	37	chr4	110222950	110222950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggtatcaggcagcagatGaatggaaggggcccctttgg	10	7	16	8	0	1	2	1	1	0	1	1	3	1	3	2	6	1	3	2	6	3	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:110222950G>A	ENST00000399132.1	-	2	756	c.226C>T	c.(226-228)Cat>Tat	p.H76Y	COL25A1_ENST00000399126.1_Missense_Mutation_p.H76Y|COL25A1_ENST00000399127.1_Missense_Mutation_p.H76Y	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	76						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGCAGCAGATGAATGGAAGGG	0.572													44	96					0	0	0	0	A	110222950	G	A	110222950	3	1	277	1	0	0	0	0	1	0	0	0	3714	1290	45	2	1966	2	COL25A1	4	110222950	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	20796043	110222950	80931326	87	49681											
GRIA2	2891	broad.mit.edu	37	chr4	158233953	158233953	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaccgatcactttttcaaGatctggagttaaaaaaggaa	15	12	8	6	1	3	1	2	0	1	1	3	4	3	3	1	2	1	2	1	2	6	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:158233953G>C	ENST00000296526.7	+	4	917	c.592G>C	c.(592-594)Gat>Cat	p.D198H	GRIA2_ENST00000507898.1_Missense_Mutation_p.D151H|GRIA2_ENST00000264426.9_Missense_Mutation_p.D198H|GRIA2_ENST00000449365.1_Missense_Mutation_p.D151H|GRIA2_ENST00000393815.2_Missense_Mutation_p.D151H	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	198					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACTTTTTCAAGATCTGGAGTT	0.388													22	67					0	0	0	0	C	158233953	G	C	158233953	3	2	277	1	0	0	0	0	1	0	0	0	6818	942	33	2	606	2	GRIA2	4	158233953	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	48011003	158233953	32920323	88	49682											
GRIA2	2891	broad.mit.edu	37	chr4	158284166	158284166	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttataaggaaggttacaaCgtatatggcatcgaaagtgt	15	11	10	5	2	0	0	0	0	0	0	1	2	0	1	0	3	2	3	0	3	8	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:158284166C>T	ENST00000296526.7	+	15	2947	c.2622C>T	c.(2620-2622)aaC>aaT	p.N874N	GRIA2_ENST00000507898.1_Silent_p.N827N|GRIA2_ENST00000264426.9_Silent_p.N874N|GRIA2_ENST00000449365.1_Silent_p.N827N|GRIA2_ENST00000393815.2_Silent_p.N827N	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	874					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.N874N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAGGTTACAACGTATATGGCA	0.408													7	92					0	0	0	0	T	158284166	C	T	158284166	2	4	277	1	0	0	0	0	0	0	0	1	6818	535	19	1		1	GRIA2	4	158284166	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	50213	158284166	32870110	89	49683											
KLHL2	11275	broad.mit.edu	37	chr4	166184408	166184408	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaagaagacttgttgtgaAtttttggaatcccagcttca	11	14	10	6	0	1	4	1	2	0	2	2	5	2	5	1	1	1	2	1	1	4	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:166184408A>G	ENST00000226725.6	+	5	700	c.441A>G	c.(439-441)gaA>gaG	p.E147E	KLHL2_ENST00000509028.1_Intron|KLHL2_ENST00000421009.2_Silent_p.E50E|KLHL2_ENST00000506761.1_5'UTR|KLHL2_ENST00000538127.1_Silent_p.E59E|KLHL2_ENST00000514860.1_Silent_p.E151E	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	147					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CTTGTTGTGAATTTTTGGAAT	0.463													32	61					0	0	0	0	G	166184408	A	G	166184408	2	3	277	1	0	0	0	0	0	0	0	1	8426	98	4	5		5	KLHL2	4	166184408	Silent	SNP	A	TCGA-CV-7099-01A-41D-2012-08	7900242	166184408	24969868	90	49684											
CCDC110	256309	broad.mit.edu	37	chr4	186380966	186380966	+	Missense_Mutation	SNP	C	C	T																															ttcatttgtaagtgccacttCcccatcatgtgacttttgaa																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:186380966C>T	ENST00000307588.3	-	6	850	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	CCDC110_ENST00000510617.1_Missense_Mutation_p.E259K|CCDC110_ENST00000393540.3_Missense_Mutation_p.E222K	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	259						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AGTGCCACTTCCCCATCATGT	0.363													6	114					0	0	0	0	T	186380966	C	T	186380966	3	4	277	1	0	0	0	0	1	0	0	0	2772	864	30	2	1734	2	CCDC110	4	186380966	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	20196558	186380966	4773310	91	49685	387	2									
CCDC110	256309	broad.mit.edu	37	chr4	186380971	186380971	+	Missense_Mutation	SNP	T	T	A																															ttgtaagtgccacttccccaTcatgtgacttttgaagctct																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:186380971T>A	ENST00000307588.3	-	6	845	c.770A>T	c.(769-771)gAt>gTt	p.D257V	CCDC110_ENST00000510617.1_Missense_Mutation_p.D257V|CCDC110_ENST00000393540.3_Missense_Mutation_p.D220V	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	257						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CACTTCCCCATCATGTGACTT	0.358													6	110					0	0	0	0	A	186380971	T	A	186380971	3	1	277	1	0	0	0	0	1	0	0	0	2772	1435	50	5	1739	5	CCDC110	4	186380971	Missense_Mutation	SNP	T	TCGA-CV-7099-01A-41D-2012-08	5	186380971	4773305	92	49686	387	2									
FAT1	2195	broad.mit.edu	37	chr4	187525001	187525001	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcccaatgacgccacctGagtattcttctccagaagag	10	11	7	13	1	3	4	0	2	3	2	5	4	4	4	4	0	0	1	4	0	3	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:187525001G>C	ENST00000441802.2	-	19	10888	c.10679C>G	c.(10678-10680)tCa>tGa	p.S3560*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3560	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GACGCCACCTGAGTATTCTTC	0.473										HNSCC(5;0.00058)			12	28					0	0	0	0	C	187525001	G	C	187525001	4	2	277	1	0	0	0	0	0	1	0	0	5734	1294	45	2	3123	2	FAT1	4	187525001	Nonsense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1144030	187525001	3629275	93	49687											
FAT1	2195	broad.mit.edu	37	chr4	187525110	187525110	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatgtcaaagatgacaactGaggctttccattatctgcca	12	12	8	9	0	2	3	1	2	1	1	3	3	3	3	2	1	2	2	2	1	4	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:187525110G>A	ENST00000441802.2	-	19	10779	c.10570C>T	c.(10570-10572)Cag>Tag	p.Q3524*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3524	Cadherin 32.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATGACAACTGAGGCTTTCCA	0.378										HNSCC(5;0.00058)			10	25					0	0	0	0	A	187525110	G	A	187525110	4	1	277	1	0	0	0	0	0	1	0	0	5734	1299	45	2	3232	2	FAT1	4	187525110	Nonsense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	109	187525110	3629166	94	49688											
CEP72	55722	broad.mit.edu	37	chr5	644450	644450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttagataaatctttggaaGagaacagtaggttaaaatcg	17	12	9	3	1	1	2	0	0	1	2	2	4	1	3	0	2	1	2	0	2	8	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:644450G>C	ENST00000264935.5	+	10	1666	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	526					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			ATCTTTGGAAGAGAACAGTAG	0.368													4	107					0	0	0	0	C	644450	G	C	644450	3	2	277	1	0	0	0	0	1	0	0	0	3289	943	33	2	1614	2	CEP72	5	644450	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08		644450	180270810	95	49689											
SLC6A3	6531	broad.mit.edu	37	chr5	1409145	1409145	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcccccggactcaccataGaaccaggccactccgatggc	9	6	8	18	2	1	1	1	0	0	1	3	3	3	2	6	3	1	0	6	3	2	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:1409145G>A	ENST00000270349.9	-	11	1621	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	SLC6A3_ENST00000453492.2_Silent_p.F498F	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	498					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	ACTCACCATAGAACCAGGCCA	0.582													8	8					0	0	0	0	A	1409145	G	A	1409145	2	1	277	1	0	0	0	0	0	0	0	1	14773	933	33	2		2	SLC6A3	5	1409145	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	764695	1409145	179506115	96	49690											
ADAMTS16	170690	broad.mit.edu	37	chr5	5242298	5242298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtgctccgtgtcctgcGgagggggtaggtgccttcca	4	10	16	11	2	0	1	0	1	0	0	3	2	3	2	4	4	3	2	4	4	1	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:5242298G>A	ENST00000274181.7	+	17	2794	c.2656G>A	c.(2656-2658)Gga>Aga	p.G886R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	886	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGTGTCCTGCGGAGGGGGTAG	0.612													20	46					0	0	0	0	A	5242298	G	A	5242298	3	1	277	1	0	0	0	0	1	0	0	0	261	1117	39	1	2722	1	ADAMTS16	5	5242298	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	3833153	5242298	175672962	97	49691											
ADCY2	108	broad.mit.edu	37	chr5	7766894	7766894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcaggtggcgattctgcGtgcgcagaatttatttttcc	8	15	10	8	3	2	1	1	0	1	1	3	2	3	1	1	2	2	1	1	2	3	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:7766894G>A	ENST00000338316.4	+	17	2278	c.2189G>A	c.(2188-2190)cGt>cAt	p.R730H	ADCY2_ENST00000537121.1_Missense_Mutation_p.R550H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	730					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCGATTCTGCGTGCGCAGAAT	0.428													11	114					0	0	0	0	A	7766894	G	A	7766894	3	1	277	1	0	0	0	0	1	0	0	0	294	1145	40	1	2255	1	ADCY2	5	7766894	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	2524596	7766894	173148366	98	49692											
FASTKD3	79072	broad.mit.edu	37	chr5	7868022	7868022	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaactttttacaatgggcatGatggaatttgaccccgaaag	14	11	9	7	1	0	2	0	2	0	0	0	4	0	3	2	2	2	1	2	2	5	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:7868022G>C	ENST00000264669.5	-	2	311	c.175C>G	c.(175-177)Cat>Gat	p.H59D	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	59					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAATGGGCATGATGGAATTTG	0.438													23	53					0	0	0	0	C	7868022	G	C	7868022	3	2	277	1	0	0	0	0	1	0	0	0	5732	1290	45	2	1837	2	FASTKD3	5	7868022	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	101128	7868022	173047238	99	49693											
TRIO	7204	broad.mit.edu	37	chr5	14381332	14381332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacccaggagctcctgaaaGagcacgaggagttccagata	14	5	11	11	1	0	3	0	1	0	2	2	6	2	5	3	2	2	3	3	2	2	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:14381332G>C	ENST00000344204.4	+	21	3565	c.3541G>C	c.(3541-3543)Gag>Cag	p.E1181Q	TRIO_ENST00000509967.2_Missense_Mutation_p.E1132Q|TRIO_ENST00000537187.1_Missense_Mutation_p.E1181Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1181					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTCCTGAAAGAGCACGAGGA	0.473													18	45					0	0	0	0	C	14381332	G	C	14381332	3	2	277	1	0	0	0	0	1	0	0	0	16647	943	33	2	3623	2	TRIO	5	14381332	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	6513310	14381332	166533928	100	49694											
TRIO	7204	broad.mit.edu	37	chr5	14387879	14387879	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatatcattccagccagtatCcctggctcagaggtgaaact	11	10	9	11	0	2	2	2	1	0	1	4	3	4	2	3	2	2	2	3	2	3	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:14387879C>T	ENST00000344204.4	+	23	3828	c.3804C>T	c.(3802-3804)atC>atT	p.I1268I	TRIO_ENST00000509967.2_Silent_p.I1219I|TRIO_ENST00000537187.1_Silent_p.I1268I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1268					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CAGCCAGTATCCCTGGCTCAG	0.443													4	53					0	0	0	0	T	14387879	C	T	14387879	2	4	277	1	0	0	0	0	0	0	0	1	16647	845	30	2		2	TRIO	5	14387879	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	6547	14387879	166527381	101	49695											
IL7R	3575	broad.mit.edu	37	chr5	35875625	35875625	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttcaggattaagcctaTcgtatggcccagtctccccg	8	12	9	12	2	2	1	1	1	1	0	4	2	2	2	4	2	1	1	4	2	3	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:35875625T>A	ENST00000303115.3	+	7	941	c.812T>A	c.(811-813)aTc>aAc	p.I271N	IL7R_ENST00000506850.1_Missense_Mutation_p.S240T|IL7R_ENST00000343305.4_Missense_Mutation_p.S240T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	271					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATTAAGCCTATCGTATGGCCC	0.428			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						13	27					0	0	0	0	A	35875625	T	A	35875625	3	1	277	1	0	0	0	0	1	0	0	0	7758	1435	50	5	838	5	IL7R	5	35875625	Missense_Mutation	SNP	T	TCGA-CV-7099-01A-41D-2012-08	21487746	35875625	145039635	102	49696											
IPO11	51194	broad.mit.edu	37	chr5	61747671	61747671	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaaagtccaggatgatcttCgacagcacagagcattactt	13	11	8	9	1	1	2	0	1	1	1	3	4	2	3	1	1	3	2	1	1	3	4	rs138490998		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:61747671C>T	ENST00000325324.6	+	5	596	c.427C>T	c.(427-429)Cga>Tga	p.R143*	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Nonsense_Mutation_p.R183*	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	143						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GGATGATCTTCGACAGCACAG	0.403													20	55					0	0	0	0	T	61747671	C	T	61747671	4	4	277	1	0	0	0	0	0	1	0	0	7846	876	31	1	565	1	IPO11	5	61747671	Nonsense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	25872046	61747671	119167589	103	49697											
GPR98	84059	broad.mit.edu	37	chr5	90050870	90050870	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggatattgccattcacttGagagctcaacccaatttctt	10	13	8	10	0	3	1	2	1	1	1	3	3	3	2	2	2	3	1	2	2	3	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:90050870G>C	ENST00000405460.2	+	55	11544	c.11448G>C	c.(11446-11448)ttG>ttC	p.L3816F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3816					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCATTCACTTGAGAGCTCAAC	0.358													29	69					0	0	0	0	C	90050870	G	C	90050870	3	2	277	1	0	0	0	0	1	0	0	0	6771	1281	45	2	11666	2	GPR98	5	90050870	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	28303199	90050870	90864390	104	49698											
ERAP2	64167	broad.mit.edu	37	chr5	96248384	96248384	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgtattctgtgggtgctCagacaacagcaggatggaat	10	12	13	6	0	2	1	1	0	1	1	2	3	2	3	0	3	3	3	0	3	3	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:96248384C>T	ENST00000437043.3	+	16	3109	c.2398C>T	c.(2398-2400)Cag>Tag	p.Q800*	ERAP2_ENST00000379904.4_Nonsense_Mutation_p.Q755*|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	800					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TGTGGGTGCTCAGACAACAGC	0.328													16	42					0	0	0	0	T	96248384	C	T	96248384	4	4	277	1	0	0	0	0	0	1	0	0	5242	827	29	2	2456	2	ERAP2	5	96248384	Nonsense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	6197514	96248384	84666876	105	49699											
SRFBP1	153443	broad.mit.edu	37	chr5	121309963	121309963	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgtcaggagtgttggcCgactgaagtcaaaaaagtta	14	10	11	6	1	2	1	2	1	0	0	2	3	2	2	1	2	1	2	1	2	6	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:121309963C>T	ENST00000339397.4	+	2	181	c.109C>T	c.(109-111)Cga>Tga	p.R37*		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		GAGTGTTGGCCGACTGAAGTC	0.313													8	16					0	0	0	0	T	121309963	C	T	121309963	4	4	277	1	0	0	0	0	0	1	0	0	15234	644	23	1	115	1	SRFBP1	5	121309963	Nonsense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	25061579	121309963	59605297	106	49700											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724426	140724426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgagggattcaatgctCaagtgtcttatattctagat	11	14	9	7	1	4	2	2	1	2	1	4	4	4	3	0	1	1	1	0	1	5	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:140724426C>A	ENST00000253812.6	+	1	826	c.826C>A	c.(826-828)Caa>Aaa	p.Q276K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCAATGCTCAAGTGTCTTA	0.448													16	33					0.000422831	0.000600756	1	0	A	140724426	C	A	140724426	3	1	277	1	0	0	0	0	1	0	0	0	11626	827	29	2	828	2	PCDHGA3	5	140724426	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	19414463	140724426	40190834	107	49701											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794543	140794543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtggtggcggtggacagaGactccggccagaacgcctgg	8	5	18	10	3	0	2	0	0	0	2	1	4	1	3	3	7	1	0	3	7	1	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:140794543G>A	ENST00000398610.2	+	1	1801	c.1801G>A	c.(1801-1803)Gac>Aac	p.D601N	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGACAGAGACTCCGGCCA	0.716													38	108					0	0	0	0	A	140794543	G	A	140794543	3	1	277	1	0	0	0	0	1	0	0	0	11622	942	33	2	1803	2	PCDHGA10	5	140794543	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	70117	140794543	40120717	108	49702											
NR3C1	2908	broad.mit.edu	37	chr5	142780147	142780147	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctcccatatacagtccCattgagagtgaaactgcttt	10	13	7	11	0	1	2	0	2	1	1	4	3	3	2	2	0	3	1	2	0	3	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:142780147C>G	ENST00000343796.2	-	2	1251	c.258G>C	c.(256-258)atG>atC	p.M86I	NR3C1_ENST00000231509.3_Missense_Mutation_p.M86I|NR3C1_ENST00000504572.1_Missense_Mutation_p.M86I|NR3C1_ENST00000394464.2_Missense_Mutation_p.M86I|NR3C1_ENST00000503201.1_Missense_Mutation_p.M86I|NR3C1_ENST00000415690.2_Missense_Mutation_p.M86I|NR3C1_ENST00000394466.2_Missense_Mutation_p.M86I|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000424646.2_Missense_Mutation_p.M86I	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	86	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TATACAGTCCCATTGAGAGTG	0.473													4	169					0	0	0	0	G	142780147	C	G	142780147	3	3	277	1	0	0	0	0	1	0	0	0	10701	594	21	4	2162	4	NR3C1	5	142780147	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1985604	142780147	38135113	109	49703											
SLC36A3	285641	broad.mit.edu	37	chr5	150660632	150660632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaaacagtgcccagctctCtgacacttgggagatggcaa	12	8	10	11	0	1	2	0	1	1	1	2	3	1	2	1	2	4	2	1	2	3	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:150660632C>T	ENST00000335230.3	-	9	1498	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	SLC36A3_ENST00000377713.3_Missense_Mutation_p.E404K	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	363						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCAGCTCTCTGACACTTGG	0.507													23	43					0	0	0	0	T	150660632	C	T	150660632	3	4	277	1	0	0	0	0	1	0	0	0	14683	922	32	2	333	2	SLC36A3	5	150660632	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	7880485	150660632	30254628	110	49704											
CLINT1	9685	broad.mit.edu	37	chr5	157218825	157218825	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcccataagatcaaacagGtctgaagaatttgaggcagc	15	7	11	8	0	2	4	1	2	1	2	2	5	2	4	1	2	3	1	1	2	4	2	rs150043675	by1000genomes	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:157218825G>A	ENST00000523094.1	-	10	1417	c.1212C>T	c.(1210-1212)gaC>gaT	p.D404D	CLINT1_ENST00000296951.5_Silent_p.D404D|CLINT1_ENST00000411809.2_Silent_p.D422D|CLINT1_ENST00000530742.1_Silent_p.D404D|CLINT1_ENST00000523908.1_Silent_p.D422D	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	422					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATCAAACAGGTCTGAAGAAT	0.502													8	92					0	0	0	0	A	157218825	G	A	157218825	2	1	277	1	0	0	0	0	0	0	0	1	3561	1252	44	4		4	CLINT1	5	157218825	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	6558193	157218825	23696435	111	49705											
STK10	6793	broad.mit.edu	37	chr5	171534828	171534828	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcgtttctgtagagtcttCagattcttggcagacacacc	8	14	8	11	1	5	3	1	0	4	3	6	3	5	3	1	1	0	3	1	1	1	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:171534828C>G	ENST00000176763.5	-	5	892	c.549G>C	c.(547-549)ctG>ctC	p.L183L		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	183	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTAGAGTCTTCAGATTCTTGG	0.493											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	33					0	0	0	0	G	171534828	C	G	171534828	2	3	277	1	0	0	0	0	0	0	0	1	15376	813	29	2		2	STK10	5	171534828	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	14316003	171534828	9380432	112	49706											
FGFR4	2264	broad.mit.edu	37	chr5	176523644	176523644	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatgggagatcttcaccctCgggggctccccgtatcctgg	5	10	12	14	2	2	1	1	0	1	1	5	2	4	1	4	4	0	2	4	4	2	3	rs67419797		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:176523644C>T	ENST00000292408.4	+	16	2300	c.2055C>T	c.(2053-2055)ctC>ctT	p.L685L	FGFR4_ENST00000393648.2_Silent_p.L617L|FGFR4_ENST00000393637.1_Silent_p.L645L|FGFR4_ENST00000292410.3_Silent_p.L645L|FGFR4_ENST00000502906.1_Silent_p.L685L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	685	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TCTTCACCCTCGGGGGCTCCC	0.667										TSP Lung(9;0.080)			13	33					0	0	0	0	T	176523644	C	T	176523644	2	4	277	1	0	0	0	0	0	0	0	1	5913	871	31	1		1	FGFR4	5	176523644	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	4988816	176523644	4391616	113	49707											
DSP	1832	broad.mit.edu	37	chr6	7586033	7586033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggtcccgcagtgggtcccgGagaggaagctttgacgccac	7	6	16	12	3	0	2	0	1	0	1	2	4	2	3	3	4	1	2	3	4	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:7586033G>A	ENST00000379802.3	+	24	8879	c.8538G>A	c.(8536-8538)cgG>cgA	p.R2846R	DSP_ENST00000418664.2_Silent_p.R2247R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2846	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGGGTCCCGGAGAGGAAGCT	0.577													39	119					0	0	0	0	A	7586033	G	A	7586033	2	1	277	1	0	0	0	0	0	0	0	1	4817	1161	41	2		2	DSP	6	7586033	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08		7586033	163529034	114	49708											
NHLRC1	378884	broad.mit.edu	37	chr6	18122513	18122513	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagggctccgggggcgcTgggggcggcgcgatgggcgg	2	4	26	9	6	0	1	0	1	0	0	1	2	1	1	1	9	0	2	1	9	0	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:18122513T>A	ENST00000340650.3	-	1	338	c.325A>T	c.(325-327)Agc>Tgc	p.S109C		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	109					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CCGGGGGCGCTGGGGGCGGCG	0.731													7	20					0	0	0	0	A	18122513	T	A	18122513	3	1	277	1	0	0	0	0	1	0	0	0	10475	1580	55	5	866	5	NHLRC1	6	18122513	Missense_Mutation	SNP	T	TCGA-CV-7099-01A-41D-2012-08	10536480	18122513	152992554	115	49709											
NHLRC1	378884	broad.mit.edu	37	chr6	18122525	18122525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggcgctgggggcggcgcGatgggcggccggggactggc	2	3	26	10	6	0	0	0	0	0	0	0	2	0	1	1	10	0	1	1	10	0	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:18122525G>A	ENST00000340650.3	-	1	326	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	105					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGGGCGGCGCGATGGGCGGCC	0.726													5	15					0	0	0	0	A	18122525	G	A	18122525	3	1	277	1	0	0	0	0	1	0	0	0	10475	1058	37	1	878	1	NHLRC1	6	18122525	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	12	18122525	152992542	116	49710											
HIST1H2BB	3018	broad.mit.edu	37	chr6	26043802	26043802	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcggctgcgcttacgcttCttaccatccttcttctgcgc	3	15	8	15	4	3	0	0	0	3	0	4	0	4	0	2	1	5	3	2	1	2	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:26043802C>T	ENST00000357905.2	-	1	83	c.84G>A	c.(82-84)aaG>aaA	p.K28K		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	28					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCTTACGCTTCTTACCATCCT	0.507													45	128					0	0	0	0	T	26043802	C	T	26043802	2	4	277	1	0	0	0	0	0	0	0	1	7191	912	32	2		2	HIST1H2BB	6	26043802	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	7921277	26043802	145071265	117	49711											
HIST1H3I	8354	broad.mit.edu	37	chr6	27839926	27839926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attagcagctcggtcgacttCtggtagcggcggatctcgcg	6	10	14	11	6	2	0	0	0	2	0	5	2	2	1	0	4	3	3	0	4	2	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:27839926C>T	ENST00000328488.2	-	1	173	c.168G>A	c.(166-168)caG>caA	p.Q56Q		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	56					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGGTCGACTTCTGGTAGCGGC	0.657													37	68					0	0	0	0	T	27839926	C	T	27839926	2	4	277	1	0	0	0	0	0	0	0	1	7213	912	32	2		2	HIST1H3I	6	27839926	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1796124	27839926	143275141	118	49712											
HLA-A	3105	broad.mit.edu	37	chr6	29910684	29910684	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggagccgcgggcgccgtGgatagagcaggaggggccgg	7	3	22	9	5	0	1	0	0	0	1	0	5	0	4	3	7	2	1	3	7	1	1	rs41542016		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:29910684G>A	ENST00000396634.1	+	4	565	c.224G>A	c.(223-225)tGg>tAg	p.W75*	HLA-A_ENST00000376802.2_Nonsense_Mutation_p.W75*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.W75*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.W75*			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	75	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGGCGCCGTGGATAGAGCAG	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	17					0	0	0	0	A	29910684	G	A	29910684	4	1	277	1	0	0	0	0	0	1	0	0	7245	1357	47	4	230	4	HLA-A	6	29910684	Nonsense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	2070758	29910684	141204383	119	49713											
MDC1	9656	broad.mit.edu	37	chr6	30671427	30671427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctggcttctctgcagtatCttcttcctcttccttgataa	5	17	5	14	0	4	1	0	1	4	0	7	1	6	1	3	1	1	3	3	1	2	7			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:30671427C>T	ENST00000376406.3	-	10	6180	c.5533G>A	c.(5533-5535)Gat>Aat	p.D1845N	MDC1_ENST00000376405.2_Missense_Mutation_p.D1581N|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1845	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCTGCAGTATCTTCTTCCTCT	0.483								Other conserved DNA damage response genes					59	143					0	0	0	0	T	30671427	C	T	30671427	3	4	277	1	0	0	0	0	1	0	0	0	9472	913	32	2	760	2	MDC1	6	30671427	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	760743	30671427	140443640	120	49714											
MUC21	394263	broad.mit.edu	37	chr6	30954680	30954680	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccagcacagccaccaactCtgagtccagcacaccctcca	11	4	7	19	0	1	1	0	1	1	0	3	1	3	1	6	1	4	2	6	1	1	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:30954680C>G	ENST00000376296.3	+	2	969	c.728C>G	c.(727-729)tCt>tGt	p.S243C	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	243	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGAGTCCAGC	0.642													7	305					0	0	0	0	G	30954680	C	G	30954680	3	3	277	1	0	0	0	0	1	0	0	0	10047	913	32	2	734	2	MUC21	6	30954680	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	283253	30954680	140160387	121	49715											
HLA-B	3106	broad.mit.edu	37	chr6	31323241	31323241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccacaagctcagtgtcctGagtttggtcctcgccatccc	6	11	8	16	1	1	1	1	1	0	0	6	1	5	1	5	1	1	2	5	1	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:31323241G>C	ENST00000412585.2	-	4	776	c.748C>G	c.(748-750)Cag>Gag	p.Q250E		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				29	65					0	0	0	0	C	31323241	G	C	31323241	3	2	277	1	0	0	0	0	1	0	0	0	7246	1299	45	2	356	2	HLA-B	6	31323241	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	368561	31323241	139791826	122	49716											
HLA-B	3106	broad.mit.edu	37	chr6	31324637	31324637	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcgtcgctgtcgaacctcacGaactgggtgtcgtccacgta	7	9	12	13	6	1	0	1	0	0	0	5	2	2	0	2	1	2	2	2	1	3	1	rs41546213		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:31324637G>C	ENST00000412585.2	-	2	199	c.171C>G	c.(169-171)ttC>ttG	p.F57L		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CGAACCTCACGAACTGGGTGT	0.657									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				11	18					0	0	0	0	C	31324637	G	C	31324637	3	2	277	1	0	0	0	0	1	0	0	0	7246	1049	37	3	941	3	HLA-B	6	31324637	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1396	31324637	139790430	123	49717											
PACSIN1	29993	broad.mit.edu	37	chr6	34498110	34498110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcagcaccagtggcccCggcatgcccatgaactggcc	7	6	11	17	2	0	1	0	1	0	0	1	1	1	1	6	3	3	3	6	3	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:34498110C>T	ENST00000538621.1	+	7	1124	c.879C>T	c.(877-879)ccC>ccT	p.P293P	PACSIN1_ENST00000374043.2_Silent_p.P251P|PACSIN1_ENST00000244458.2_Silent_p.P293P	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	293					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CCAGTGGCCCCGGCATGCCCA	0.617													16	27					0	0	0	0	T	34498110	C	T	34498110	2	4	277	1	0	0	0	0	0	0	0	1	11445	639	23	1		1	PACSIN1	6	34498110	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	3173473	34498110	136616957	124	49718											
LRFN2	57497	broad.mit.edu	37	chr6	40359796	40359796	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acagagaggctgcgcttcgtCcagatgttcgagaccttccg	8	9	12	12	4	0	3	0	0	0	3	4	5	2	3	3	1	1	3	3	1	0	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:40359796C>G	ENST00000338305.6	-	3	2798	c.2256G>C	c.(2254-2256)tgG>tgC	p.W752C		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	752						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCGCTTCGTCCAGATGTTCG	0.642													11	24					0	0	0	0	G	40359796	C	G	40359796	3	3	277	1	0	0	0	0	1	0	0	0	9002	856	30	2	117	2	LRFN2	6	40359796	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	5861686	40359796	130755271	125	49719											
GPR115	221393	broad.mit.edu	37	chr6	47680160	47680160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcatattctagactttcGagctccagagaccattgaga	11	12	8	10	1	2	3	0	1	2	3	4	6	3	3	2	0	2	2	2	0	2	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:47680160G>A	ENST00000283303.2	+	5	626	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	GPR115_ENST00000327753.3_Missense_Mutation_p.R123Q|GPR115_ENST00000371220.1_Missense_Mutation_p.R180Q	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	123					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CTAGACTTTCGAGCTCCAGAG	0.418													30	74					0	0	0	0	A	47680160	G	A	47680160	3	1	277	1	0	0	0	0	1	0	0	0	6681	1058	37	1	382	1	GPR115	6	47680160	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	7320364	47680160	123434907	126	49720											
SMAP1	60682	broad.mit.edu	37	chr6	71442124	71442124	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attggtgtgtttatttgcatCagatgtgctggaattcatag	9	17	11	4	0	2	1	2	0	0	1	2	2	2	2	0	2	2	3	0	2	3	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:71442124C>T	ENST00000370455.3	+	2	410	c.162C>T	c.(160-162)atC>atT	p.I54I	SMAP1_ENST00000370452.3_Silent_p.I54I|SMAP1_ENST00000316999.5_Silent_p.I54I|SMAP1_ENST00000422334.2_Silent_p.I54I	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	54	Arf-GAP.				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						TTATTTGCATCAGATGTGCTG	0.363													12	54					0	0	0	0	T	71442124	C	T	71442124	2	4	277	1	0	0	0	0	0	0	0	1	14854	816	29	2		2	SMAP1	6	71442124	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	23761964	71442124	99672943	127	49721											
IMPG1	3617	broad.mit.edu	37	chr6	76660391	76660391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagaacactaccagctctCggcccttgggggcaatggtc	9	8	12	12	1	1	2	0	1	1	1	3	2	1	2	2	4	3	2	2	4	4	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:76660391C>T	ENST00000369950.3	-	13	1901	c.1712G>A	c.(1711-1713)cGa>cAa	p.R571Q	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	571	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TACCAGCTCTCGGCCCTTGGG	0.488													8	56					0	0	0	0	T	76660391	C	T	76660391	3	4	277	1	0	0	0	0	1	0	0	0	7781	884	31	1	701	1	IMPG1	6	76660391	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	5218267	76660391	94454676	128	49722											
WASF1	8936	broad.mit.edu	37	chr6	110423089	110423089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtggatgaactggtacagtCtcacatactggggcagctct	10	10	12	9	0	2	1	1	1	2	0	3	2	2	2	0	4	4	3	0	4	3	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:110423089C>T	ENST00000392589.1	-	10	2060	c.1224G>A	c.(1222-1224)gaG>gaA	p.E408E	WASF1_ENST00000359451.2_Silent_p.E408E|WASF1_ENST00000392588.1_Silent_p.E408E|WASF1_ENST00000392586.1_Silent_p.E408E|WASF1_ENST00000392587.2_Silent_p.E408E	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	408					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CTGGTACAGTCTCACATACTG	0.577													13	44					0	0	0	0	T	110423089	C	T	110423089	2	4	277	1	0	0	0	0	0	0	0	1	17348	912	32	2		2	WASF1	6	110423089	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	33762698	110423089	60691978	129	49723											
OLIG3	167826	broad.mit.edu	37	chr6	137815023	137815023	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctaggttcaggtcgtgcatCcgcttgcgttcgcgtccgtt	3	13	13	12	6	1	0	1	0	0	0	5	0	3	0	2	2	2	6	2	2	1	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:137815023C>T	ENST00000367734.2	-	1	508	c.285G>A	c.(283-285)cgG>cgA	p.R95R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GGTCGTGCATCCGCTTGCGTT	0.607													36	58					0	0	0	0	T	137815023	C	T	137815023	2	4	277	1	0	0	0	0	0	0	0	1	10933	842	30	2		2	OLIG3	6	137815023	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	27391934	137815023	33300044	130	49724											
RAET1E	135250	broad.mit.edu	37	chr6	150210518	150210518	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgcctcccagtgccctaaGaattccctgagccagtgatc	9	10	8	14	0	0	3	0	2	0	1	3	3	2	3	5	0	3	0	5	0	2	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:150210518G>A	ENST00000532335.1	-	4	934	c.588C>T	c.(586-588)ttC>ttT	p.F196F	RAET1E_ENST00000367363.3_Silent_p.F160F|RP11-244K5.8_ENST00000606915.1_RNA|RP11-244K5.1_ENST00000605899.1_RNA|RAET1E_ENST00000357183.4_Silent_p.F196F|RAET1E_ENST00000529948.1_Silent_p.F196F	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	196	MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AGTGCCCTAAGAATTCCCTGA	0.512													5	66					0	0	0	0	A	150210518	G	A	150210518	2	1	277	1	0	0	0	0	0	0	0	1	13081	933	33	2		2	RAET1E	6	150210518	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	12395495	150210518	20904549	131	49725											
RAET1E	135250	broad.mit.edu	37	chr6	150210686	150210686	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatttctctccattggtggcGaactgccaggatgcaccagt	8	11	11	11	1	1	0	0	0	1	0	3	3	2	1	3	3	3	1	3	3	1	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:150210686G>A	ENST00000532335.1	-	4	766	c.420C>T	c.(418-420)ttC>ttT	p.F140F	RAET1E_ENST00000367363.3_Silent_p.F104F|RP11-244K5.8_ENST00000606915.1_RNA|RP11-244K5.1_ENST00000605899.1_RNA|RAET1E_ENST00000357183.4_Silent_p.F140F|RAET1E_ENST00000529948.1_Silent_p.F140F	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	140	MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CATTGGTGGCGAACTGCCAGG	0.468													5	75					0	0	0	0	A	150210686	G	A	150210686	2	1	277	1	0	0	0	0	0	0	0	1	13081	1049	37	1		1	RAET1E	6	150210686	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	168	150210686	20904381	132	49726											
PSMG3	84262	broad.mit.edu	37	chr7	1608785	1608785	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccccagaaggacttttGtggtgagcacaggcttgctg	7	10	13	11	0	0	2	0	1	0	1	0	3	0	3	3	3	3	3	3	3	1	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:1608785G>C	ENST00000288607.2	-	1	844	c.191C>G	c.(190-192)aCa>aGa	p.T64R	PSMG3_ENST00000252329.3_Missense_Mutation_p.T64R|PSMG3_ENST00000404674.3_Missense_Mutation_p.T64R	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	64										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		AAGGACTTTTGTGGTGAGCAC	0.602													29	69					0	0	0	0	C	1608785	G	C	1608785	3	2	277	1	0	0	0	0	1	0	0	0	12792	1377	48	4	185	4	PSMG3	7	1608785	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08		1608785	157529878	133	49727											
THSD7A	221981	broad.mit.edu	37	chr7	11485796	11485796	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatgtctccttgtacttTcattcccagcaacacttcca	8	15	4	14	0	2	1	1	1	1	0	5	1	4	1	3	0	3	2	3	0	2	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:11485796T>C	ENST00000423059.3	-	13	3207	c.2956A>G	c.(2956-2958)Aaa>Gaa	p.K986E	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	986	TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTGTACTTTCATTCCCAGC	0.433										HNSCC(18;0.044)			3	187					0	0	0	0	C	11485796	T	C	11485796	3	2	277	1	0	0	0	0	1	0	0	0	15973	1792	62	5	2077	5	THSD7A	7	11485796	Missense_Mutation	SNP	T	TCGA-CV-7099-01A-41D-2012-08	9877011	11485796	147652867	134	49728											
ETV1	2115	broad.mit.edu	37	chr7	13975358	13975358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatggggtagctgctatCtggtatggactgcgatggag	7	11	16	7	1	1	0	0	0	1	0	2	3	2	2	1	5	3	4	1	5	3	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:13975358C>A	ENST00000343495.5	-	7	1213	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	ETV1_ENST00000403685.1_Missense_Mutation_p.D159Y|ETV1_ENST00000403527.1_Missense_Mutation_p.D137Y|ETV1_ENST00000405358.4_Missense_Mutation_p.D191Y|ETV1_ENST00000405218.2_Missense_Mutation_p.D177Y|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000430479.1_Missense_Mutation_p.D177Y|ETV1_ENST00000405192.2_Missense_Mutation_p.D177Y|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000242066.5_Missense_Mutation_p.D159Y|ETV1_ENST00000420159.2_Missense_Mutation_p.D119Y			P50549	ETV1_HUMAN	ets variant 1	177					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TAGCTGCTATCTGGTATGGAC	0.478			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								12	168					6.72482e-11	9.94858e-11	1	0	A	13975358	C	A	13975358	3	1	277	1	0	0	0	0	1	0	0	0	5315	913	32	2	932	2	ETV1	7	13975358	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2489562	13975358	145163305	135	49729											
HOXA11	3207	broad.mit.edu	37	chr7	27222479	27222479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatttttttttccttcattCtcctgttctgaaaccagatt	8	21	3	9	0	3	2	1	1	2	1	5	2	4	2	3	0	1	1	3	0	2	9			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:27222479C>T	ENST00000006015.3	-	2	949	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	293					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TTCCTTCATTCTCCTGTTCTG	0.453			T	NUP98	CML								27	64					0	0	0	0	T	27222479	C	T	27222479	3	4	277	1	0	0	0	0	1	0	0	0	7340	913	32	2	67	2	HOXA11	7	27222479	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	13247121	27222479	131916184	136	49730											
ABCA13	154664	broad.mit.edu	37	chr7	48318519	48318519	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaaagaaatagctactttAaaaaaaatagatcatttcac	20	11	5	5	0	2	3	2	1	0	2	2	3	2	3	0	0	2	1	0	0	9	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:48318519A>T	ENST00000435803.1	+	18	7752	c.7728A>T	c.(7726-7728)ttA>ttT	p.L2576F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2576					transport	integral to membrane	ATP binding|ATPase activity	p.L2576F(3)|p.L2521F(2)		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						TAGCTACTTTAAAAAAAATAG	0.313													42	75					0	0	0	0	T	48318519	A	T	48318519	3	4	277	1	0	0	0	0	1	0	0	0	31	359	13	5	7627	5	ABCA13	7	48318519	Missense_Mutation	SNP	A	TCGA-CV-7099-01A-41D-2012-08	21096040	48318519	110820144	137	49731											
IKZF1	10320	broad.mit.edu	37	chr7	50467665	50467665	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagcagcgccagctacgaGaaggagaacgaaatgatgaa	17	3	13	8	3	0	4	0	2	0	2	0	8	0	4	1	1	5	2	1	1	5	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:50467665G>A	ENST00000331340.3	+	8	1055	c.900G>A	c.(898-900)gaG>gaA	p.E300E	IKZF1_ENST00000357364.4_Silent_p.E213E|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Silent_p.E213E|IKZF1_ENST00000349824.4_Silent_p.E157E|IKZF1_ENST00000439701.1_Silent_p.E258E|IKZF1_ENST00000346667.4_Silent_p.E70E|IKZF1_ENST00000438033.1_Silent_p.E213E|IKZF1_ENST00000359197.5_Silent_p.E258E	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	300					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCAGCTACGAGAAGGAGAACG	0.637			"D,T"	BCL6	"ALL, DLBCL"								4	20					0	0	0	0	A	50467665	G	A	50467665	2	1	277	1	0	0	0	0	0	0	0	1	7667	933	33	2		2	IKZF1	7	50467665	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	2149146	50467665	108670998	138	49732											
ABCB1	5243	broad.mit.edu	37	chr7	87179526	87179526	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tagagcctctgcatcagctgGactgttgtgctcttcccaca	7	12	9	13	0	3	1	1	0	2	1	4	2	4	2	2	1	4	4	2	1	1	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:87179526G>C	ENST00000265724.3	-	13	1728	c.1311C>G	c.(1309-1311)gtC>gtG	p.V437V	ABCB1_ENST00000543898.1_Silent_p.V373V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	437	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GCATCAGCTGGACTGTTGTGC	0.557													3	48					0	0	0	0	C	87179526	G	C	87179526	2	2	277	1	0	0	0	0	0	0	0	1	40	1161	41	2		2	ABCB1	7	87179526	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	36711861	87179526	71959137	139	49733											
MCM7	4176	broad.mit.edu	37	chr7	99693502	99693502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgctccaggctgcggcgaGggttgtagcgcccgtaggca	5	8	16	12	4	1	0	0	0	1	0	2	1	2	0	2	4	3	6	2	4	2	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:99693502G>C	ENST00000303887.5	-	11	2135	c.1490C>G	c.(1489-1491)cCt>cGt	p.P497R	MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Missense_Mutation_p.P321R	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	497	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCTGCGGCGAGGGTTGTAGCG	0.622													34	67					0	0	0	0	C	99693502	G	C	99693502	3	2	277	1	0	0	0	0	1	0	0	0	9461	1000	35	4	689	4	MCM7	7	99693502	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	12513976	99693502	59445161	140	49734											
ACTL6B	51412	broad.mit.edu	37	chr7	100253069	100253069	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattcttgaggggcgacatGacctccgctccatcccgagg	7	8	11	15	3	1	2	0	2	1	0	4	4	4	2	5	3	0	1	5	3	0	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:100253069G>A	ENST00000160382.5	-	3	349	c.243C>T	c.(241-243)gtC>gtT	p.V81V		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	81	Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity).				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGGCGACATGACCTCCGCTC	0.612													29	74					0	0	0	0	A	100253069	G	A	100253069	2	1	277	1	0	0	0	0	0	0	0	1	199	1277	45	2		2	ACTL6B	7	100253069	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	559567	100253069	58885594	141	49735											
CUL1	8454	broad.mit.edu	37	chr7	148427271	148427271	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcagattggcctggaccaGatctgggacgacctcagagc	11	6	13	11	1	2	3	1	0	1	3	2	6	2	5	3	3	2	1	3	3	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:148427271G>A	ENST00000325222.4	+	2	336	c.57G>A	c.(55-57)caG>caA	p.Q19Q	CUL1_ENST00000409469.1_Silent_p.Q19Q|CUL1_ENST00000602748.1_Silent_p.Q19Q	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCCTGGACCAGATCTGGGACG	0.562													23	59					0	0	0	0	A	148427271	G	A	148427271	2	1	277	1	0	0	0	0	0	0	0	1	4086	933	33	2		2	CUL1	7	148427271	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	48174202	148427271	10711392	142	49736											
CUL1	8454	broad.mit.edu	37	chr7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagtgcaagtgacgatgccGaagccagcatgatctccaag	13	6	11	11	2	1	2	0	2	1	0	2	4	1	2	3	0	4	2	3	0	3	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000409469.1_Missense_Mutation_p.E485K|CUL1_ENST00000602748.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458													66	17					0	0	0	0	A	148484186	G	A	148484186	3	1	277	1	0	0	0	0	1	0	0	0	4086	1059	37	1	1499	1	CUL1	7	148484186	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	56915	148484186	10654477	143	49737											
PRKAG2	51422	broad.mit.edu	37	chr7	151262822	151262822	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctgactcatccacaacAggcagagctgatattcgtct	13	9	7	12	1	2	3	1	2	1	1	4	3	3	3	2	1	3	2	2	1	3	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:151262822A>T	ENST00000287878.4	-	12	1887	c.1383T>A	c.(1381-1383)ccT>ccA	p.P461P	PRKAG2_ENST00000492843.1_Silent_p.P337P|PRKAG2_ENST00000392801.2_Silent_p.P417P|PRKAG2_ENST00000433631.2_Silent_p.P336P|PRKAG2_ENST00000418337.2_Silent_p.P220P	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	461	CBS 3.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CATCCACAACAGGCAGAGCTG	0.433													24	73					0	0	0	0	T	151262822	A	T	151262822	2	4	277	1	0	0	0	0	0	0	0	1	12581	175	7	5		5	PRKAG2	7	151262822	Silent	SNP	A	TCGA-CV-7099-01A-41D-2012-08	2778636	151262822	7875841	144	49738											
WDR60	55112	broad.mit.edu	37	chr7	158679719	158679719	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttgctttccaggcatgctGagaatttagtaaggaatcat	11	14	10	6	0	1	1	1	1	0	1	2	3	2	2	1	2	2	5	1	2	4	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:158679719G>C	ENST00000407559.3	+	7	1101	c.943G>C	c.(943-945)Gag>Cag	p.E315Q		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	315										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CAGGCATGCTGAGAATTTAGT	0.313													34	13					0	0	0	0	C	158679719	G	C	158679719	3	2	277	1	0	0	0	0	1	0	0	0	17407	1291	45	2	969	2	WDR60	7	158679719	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	7416897	158679719	458944	145	49739											
NEIL2	252969	broad.mit.edu	37	chr8	11637314	11637314	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagggcgaggatgattctGagtatttggagagagacgcc	10	8	15	8	2	1	4	0	2	1	2	1	8	1	5	2	3	0	1	2	3	1	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:11637314G>C	ENST00000284503.6	+	3	945	c.346G>C	c.(346-348)Gag>Cag	p.E116Q	NEIL2_ENST00000436750.3_Missense_Mutation_p.E116Q|NEIL2_ENST00000455213.2_Missense_Mutation_p.E116Q|NEIL2_ENST00000403422.3_Missense_Mutation_p.E55Q|NEIL2_ENST00000528323.1_Intron	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	116					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GGATGATTCTGAGTATTTGGA	0.602								Base excision repair (BER), DNA glycosylases					31	48					0	0	0	0	C	11637314	G	C	11637314	3	2	277	1	0	0	0	0	1	0	0	0	10389	1291	45	2	357	2	NEIL2	8	11637314	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08		11637314	134726708	146	49740											
TEX15	56154	broad.mit.edu	37	chr8	30699749	30699749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagctgtaaaatcttccttCtgttatacagcatttggcat	10	16	6	9	0	3	0	1	0	2	0	4	0	4	0	1	1	3	5	1	1	4	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:30699749C>T	ENST00000256246.2	-	1	6859	c.6785G>A	c.(6784-6786)aGa>aAa	p.R2262K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2262										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATCTTCCTTCTGTTATACAG	0.303													23	52					0	0	0	0	T	30699749	C	T	30699749	3	4	277	1	0	0	0	0	1	0	0	0	15873	913	32	2	1600	2	TEX15	8	30699749	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	19062435	30699749	115664273	147	49741											
GPR124	25960	broad.mit.edu	37	chr8	37696479	37696479	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgccctttcccaggagctGagcgcctttcccagggaggt	5	9	12	15	1	0	1	0	1	0	0	2	3	2	3	5	3	3	1	5	3	0	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:37696479G>C	ENST00000315215.7	+	12	1977	c.1614G>C	c.(1612-1614)ctG>ctC	p.L538L	GPR124_ENST00000412232.2_Silent_p.L755L			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	755					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCAGGAGCTGAGCGCCTTTC	0.677													14	57					0	0	0	0	C	37696479	G	C	37696479	2	2	277	1	0	0	0	0	0	0	0	1	6687	1277	45	2		2	GPR124	8	37696479	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	6996730	37696479	108667543	148	49742											
DNAJC5B	85479	broad.mit.edu	37	chr8	66992626	66992626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctaggccctgtttgtcatCgttggcctcttgacgggctg	3	13	12	13	2	2	1	1	1	1	0	3	1	2	1	3	3	0	3	3	3	1	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:66992626C>T	ENST00000276570.5	+	5	635	c.348C>T	c.(346-348)atC>atT	p.I116I	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	116					protein folding	membrane	heat shock protein binding|unfolded protein binding	p.I116I(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TGTTTGTCATCGTTGGCCTCT	0.557													24	58					0	0	0	0	T	66992626	C	T	66992626	2	4	277	1	0	0	0	0	0	0	0	1	4687	874	31	1		1	DNAJC5B	8	66992626	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	29296147	66992626	79371396	149	49743											
CNGB3	54714	broad.mit.edu	37	chr8	87623893	87623893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcataaatcatctgtgtatCacaaccctatataaaaagaa	18	11	4	8	0	4	1	3	0	1	1	4	1	4	1	1	0	1	1	1	0	10	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:87623893C>G	ENST00000320005.5	-	14	1632	c.1585G>C	c.(1585-1587)Gat>Cat	p.D529H		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	529					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATCTGTGTATCACAACCCTAT	0.294													10	34					0	0	0	0	G	87623893	C	G	87623893	3	3	277	1	0	0	0	0	1	0	0	0	3631	826	29	2	864	2	CNGB3	8	87623893	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	20631267	87623893	58740129	150	49744											
NECAB1	64168	broad.mit.edu	37	chr8	91940500	91940500	+	Silent	SNP	G	G	A																															acccagataaatagactccaGaaattaattgatagactgga																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:91940500G>A	ENST00000417640.2	+	8	1003	c.666G>A	c.(664-666)caG>caA	p.Q222Q		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	222					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			ATAGACTCCAGAAATTAATTG	0.383													32	52					0	0	0	0	A	91940500	G	A	91940500	2	1	277	1	0	0	0	0	0	0	0	1	10374	933	33	2		2	NECAB1	8	91940500	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	4316607	91940500	54423522	151	49745	388	2									
NECAB1	64168	broad.mit.edu	37	chr8	91940510	91940510	+	Missense_Mutation	SNP	G	G	C																															atagactccagaaattaattGatagactggaaaagaaggta																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:91940510G>C	ENST00000417640.2	+	8	1013	c.676G>C	c.(676-678)Gat>Cat	p.D226H		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	226					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GAAATTAATTGATAGACTGGA	0.383													29	51					0	0	0	0	C	91940510	G	C	91940510	3	2	277	1	0	0	0	0	1	0	0	0	10374	1290	45	2	706	2	NECAB1	8	91940510	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	10	91940510	54423512	152	49746	388	2									
MATN2	4147	broad.mit.edu	37	chr8	98943558	98943558	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtgacagatgggagacctCaggactccgtggccgaggtg	8	7	16	10	3	1	3	1	1	0	2	3	6	2	4	3	4	0	0	3	4	0	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:98943558C>T	ENST00000254898.5	+	3	751	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	MATN2_ENST00000520016.1_Nonsense_Mutation_p.Q174*|MATN2_ENST00000524308.1_Nonsense_Mutation_p.Q174*|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Nonsense_Mutation_p.Q174*	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	174	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGGGAGACCTCAGGACTCCGT	0.577													5	39					0	0	0	0	T	98943558	C	T	98943558	4	4	277	1	0	0	0	0	0	1	0	0	9403	827	29	2	526	2	MATN2	8	98943558	Nonsense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	7003048	98943558	47420464	153	49747											
RGS22	26166	broad.mit.edu	37	chr8	101016160	101016160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttatgtccctcaccttgaaGaatgagtctcaagaaactga	13	11	8	9	0	2	5	2	3	1	2	4	5	3	5	2	0	1	1	2	0	5	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:101016160G>A	ENST00000360863.6	-	17	2815	c.2621C>T	c.(2620-2622)tCt>tTt	p.S874F	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.S862F|RGS22_ENST00000523287.1_Missense_Mutation_p.S693F	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	874	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCACCTTGAAGAATGAGTCTC	0.328													14	29					0	0	0	0	A	101016160	G	A	101016160	3	1	277	1	0	0	0	0	1	0	0	0	13388	942	33	2	1217	2	RGS22	8	101016160	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	2072602	101016160	45347862	154	49748											
AZIN1	51582	broad.mit.edu	37	chr8	103848575	103848575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaaacttcatgttaccctCttcacctccaatattatctt	10	15	2	14	0	4	0	2	0	2	0	5	0	5	0	4	0	2	1	4	0	5	6	rs142265787		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:103848575C>T	ENST00000337198.5	-	6	1656	c.493G>A	c.(493-495)Gag>Aag	p.E165K	AZIN1_ENST00000522311.1_5'UTR|AZIN1_ENST00000347770.4_Missense_Mutation_p.E165K	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	165					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			ATGTTACCCTCTTCACCTCCA	0.413													31	69					0	0	0	0	T	103848575	C	T	103848575	3	4	277	1	0	0	0	0	1	0	0	0	1246	922	32	2	881	2	AZIN1	8	103848575	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2832415	103848575	42515447	155	49749											
TG	7038	broad.mit.edu	37	chr8	133898883	133898883	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttgtggactctgggcttctCcgcccaatggtggagggaca	6	11	14	10	1	2	0	0	0	2	0	3	3	2	3	2	5	0	1	2	5	1	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:133898883C>G	ENST00000220616.4	+	9	1306	c.1266C>G	c.(1264-1266)ctC>ctG	p.L422L	TG_ENST00000377869.1_Silent_p.L422L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	422					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGGGCTTCTCCGCCCAATGG	0.537													8	228					0	0	0	0	G	133898883	C	G	133898883	2	3	277	1	0	0	0	0	0	0	0	1	15907	842	30	2		2	TG	8	133898883	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	30050308	133898883	12465139	156	49750											
EPPK1	83481	broad.mit.edu	37	chr8	144943655	144943655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgatgctggccttggccccaGagggctgtagcagcacaccg	7	6	14	14	2	0	1	0	0	0	1	0	2	0	1	4	3	3	5	4	3	1	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:144943655G>A	ENST00000525985.1	-	2	3838	c.3767C>T	c.(3766-3768)tCt>tTt	p.S1256F				P58107	EPIPL_HUMAN	epiplakin 1	1256						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTGGCCCCAGAGGGCTGTAG	0.716													10	12					0	0	0	0	A	144943655	G	A	144943655	3	1	277	1	0	0	0	0	1	0	0	0	5228	942	33	2	3499	2	EPPK1	8	144943655	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	11044772	144943655	1420367	157	49751											
PLEC	5339	broad.mit.edu	37	chr8	144990624	144990624	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagccccgtgccctcctcCaccatgctgcggtccagcgc	4	6	10	21	4	0	0	0	0	0	0	3	0	3	0	7	1	5	2	7	1	0	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:144990624C>T	ENST00000322810.4	-	32	13945	c.13776G>A	c.(13774-13776)gtG>gtA	p.V4592V	PLEC_ENST00000398774.2_Silent_p.V4423V|PLEC_ENST00000356346.3_Silent_p.V4441V|PLEC_ENST00000527096.1_Silent_p.V4478V|PLEC_ENST00000345136.3_Silent_p.V4455V|PLEC_ENST00000354589.3_Silent_p.V4455V|PLEC_ENST00000357649.2_Silent_p.V4459V|PLEC_ENST00000354958.2_Silent_p.V4433V|PLEC_ENST00000436759.2_Silent_p.V4482V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4592	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCCCTCCTCCACCATGCTGC	0.647													5	148					0	0	0	0	T	144990624	C	T	144990624	2	4	277	1	0	0	0	0	0	0	0	1	12124	581	21	4		4	PLEC	8	144990624	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	46969	144990624	1373398	158	49752											
IFNA17	3451	broad.mit.edu	37	chr9	21227646	21227646	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgcaagtttgttgaaaaaGagagagatctcatgatttct	13	15	9	4	0	2	4	1	2	2	2	3	6	2	4	0	0	1	3	0	0	3	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:21227646G>C	ENST00000413767.2	-	1	575	c.527C>G	c.(526-528)tCt>tGt	p.S176C		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	176					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGTTGAAAAAGAGAGAGATCT	0.373													78	278					0	0	0	0	C	21227646	G	C	21227646	3	2	277	1	0	0	0	0	1	0	0	0	7589	942	33	2	46	2	IFNA17	9	21227646	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08		21227646	119985785	159	49753											
KIF24	347240	broad.mit.edu	37	chr9	34256601	34256601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaggtgtggtgactgtgtCtctttggtctggggatccag	5	13	16	7	0	2	2	0	1	2	1	4	3	3	3	1	5	0	0	1	5	0	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:34256601C>T	ENST00000379166.2	-	11	3123	c.3004G>A	c.(3004-3006)Gac>Aac	p.D1002N	KIF24_ENST00000379174.3_Missense_Mutation_p.D868N|KIF24_ENST00000345050.2_Missense_Mutation_p.D868N|KIF24_ENST00000402558.2_Missense_Mutation_p.D1002N	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1002					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GTGACTGTGTCTCTTTGGTCT	0.537													56	81					0	0	0	0	T	34256601	C	T	34256601	3	4	277	1	0	0	0	0	1	0	0	0	8343	913	32	2	1114	2	KIF24	9	34256601	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	13028955	34256601	106956830	160	49754											
SIGMAR1	10280	broad.mit.edu	37	chr9	34635731	34635731	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtcctgggtgctgaaGacagtgtcggccagcgcgaa	10	6	16	9	3	0	2	0	1	0	1	2	4	1	3	2	3	2	1	2	3	3	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:34635731G>T	ENST00000378892.1	-	3	730	c.303C>A	c.(301-303)gtC>gtA	p.V101V	SIGMAR1_ENST00000477726.1_Silent_p.V159V|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000277010.4_Silent_p.V190V			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	190					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	GGGTGCTGAAGACAGTGTCGG	0.617													14	55					0.000151284	0.000216013	1	0	T	34635731	G	T	34635731	2	4	277	1	0	0	0	0	0	0	0	1	14404	929	33	2		2	SIGMAR1	9	34635731	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	379130	34635731	106577700	161	49755											
IARS	3376	broad.mit.edu	37	chr9	95036734	95036734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtaaggagcttggtggaCaacccctgtgccttcttctt	8	12	11	10	0	2	0	0	0	2	0	2	3	2	2	3	3	3	2	3	3	3	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:95036734C>G	ENST00000375643.3	-	10	1230	c.964G>C	c.(964-966)Gtc>Ctc	p.V322L	IARS_ENST00000443024.2_Missense_Mutation_p.V322L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.V212L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	322					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GCTTGGTGGACAACCCCTGTG	0.473													3	129					0	0	0	0	G	95036734	C	G	95036734	3	3	277	1	0	0	0	0	1	0	0	0	7526	478	17	4	2924	4	IARS	9	95036734	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	60401003	95036734	46176697	162	49756											
SMC2	10592	broad.mit.edu	37	chr9	106864358	106864358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccaaagtacgctcagctgagGaattaaaagaaatgcaagat	18	7	9	7	1	1	3	1	1	0	2	1	4	1	4	1	1	3	4	1	1	7	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:106864358G>C	ENST00000286398.7	+	8	1042	c.754G>C	c.(754-756)Gaa>Caa	p.E252Q	SMC2_ENST00000374787.3_Missense_Mutation_p.E252Q|SMC2_ENST00000303219.8_Missense_Mutation_p.E252Q|SMC2_ENST00000374793.3_Missense_Mutation_p.E252Q	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	252					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CTCAGCTGAGGAATTAAAAGA	0.313													16	117					0	0	0	0	C	106864358	G	C	106864358	3	2	277	1	0	0	0	0	1	0	0	0	14871	1175	41	2	780	2	SMC2	9	106864358	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	11827624	106864358	34349073	163	49757											
OR13C4	138804	broad.mit.edu	37	chr9	107288808	107288808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcctgtggccgagttcGttcgcaagatggtgtagagg	6	12	15	8	3	1	2	0	0	1	2	4	3	2	2	2	3	0	4	2	3	2	4	rs139144967		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:107288808G>A	ENST00000277216.3	-	1	682	c.683C>T	c.(682-684)aCg>aTg	p.T228M		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGCCGAGTTCGTTCGCAAGAT	0.403													66	71					0	0	0	0	A	107288808	G	A	107288808	3	1	277	1	0	0	0	0	1	0	0	0	11007	1145	40	1	275	1	OR13C4	9	107288808	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	424450	107288808	33924623	164	49758											
CTNNAL1	8727	broad.mit.edu	37	chr9	111705270	111705270	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtttataacaaagtgaaaGaagttggactaagagagcca	18	8	10	5	0	0	3	0	1	0	2	0	5	0	4	1	1	2	2	1	1	6	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:111705270G>C	ENST00000374595.4	-	18	2189	c.2110C>G	c.(2110-2112)Ctt>Gtt	p.L704V	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.L620V|FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.L704V|CTNNAL1_ENST00000374594.1_Missense_Mutation_p.L105V			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	704					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CAAAGTGAAAGAAGTTGGACT	0.303													19	20					0	0	0	0	C	111705270	G	C	111705270	3	2	277	1	0	0	0	0	1	0	0	0	4047	942	33	2	102	2	CTNNAL1	9	111705270	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	4416462	111705270	29508161	165	49759											
GARNL3	84253	broad.mit.edu	37	chr9	130116626	130116626	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctctgcaaaagggccttGaggggaagcaggctgggaag	10	6	18	7	0	1	1	0	1	1	0	1	3	1	3	1	5	3	4	1	5	4	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:130116626G>C	ENST00000373387.4	+	19	2048	c.1696G>C	c.(1696-1698)Gag>Cag	p.E566Q	GARNL3_ENST00000435213.2_Missense_Mutation_p.E544Q|GARNL3_ENST00000314904.5_Missense_Mutation_p.E566Q	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	566	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AAAGGGCCTTGAGGGGAAGCA	0.443													25	43					0	0	0	0	C	130116626	G	C	130116626	3	2	277	1	0	0	0	0	1	0	0	0	6290	1291	45	2	1770	2	GARNL3	9	130116626	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	18411356	130116626	11096805	166	49760											
PPAPDC3	84814	broad.mit.edu	37	chr9	134165521	134165521	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaaaggcctcgggcccatCagcacagcccccacctgctg	9	4	10	18	1	1	1	1	0	0	1	2	1	1	1	5	2	3	2	5	2	1	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:134165521C>G	ENST00000372264.3	+	1	441	c.137C>G	c.(136-138)tCa>tGa	p.S46*	PPAPDC3_ENST00000372261.1_Nonsense_Mutation_p.S46*	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	46						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TCGGGCCCATCAGCACAGCCC	0.682													9	23					0	0	0	0	G	134165521	C	G	134165521	4	3	277	1	0	0	0	0	0	1	0	0	12367	838	29	2	139	2	PPAPDC3	9	134165521	Nonsense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	4048895	134165521	7047910	167	49761											
GBGT1	26301	broad.mit.edu	37	chr9	136031310	136031310	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctccagcagcttgggctGagggtactgtgacctgcaac	7	9	14	11	0	0	2	0	2	0	0	1	2	1	2	2	2	6	6	2	2	2	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:136031310G>A	ENST00000372040.3	-	5	513	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	RALGDS_ENST00000542690.1_Missense_Mutation_p.S80L|GBGT1_ENST00000372043.3_Nonsense_Mutation_p.Q68*|GBGT1_ENST00000372038.3_Missense_Mutation_p.S80L|GBGT1_ENST00000540636.1_Nonsense_Mutation_p.Q51*|GBGT1_ENST00000472281.1_5'UTR					globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		AGCTTGGGCTGAGGGTACTGT	0.557													53	61					0	0	0	0	A	136031310	G	A	136031310	4	1	277	1	0	0	0	0	0	1	0	0	6321	1299	45	2	853	2	GBGT1	9	136031310	Nonsense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1865789	136031310	5182121	168	49762											
NOTCH1	4851	broad.mit.edu	37	chr9	139401042	139401042	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggcgcaggtgcccccattCttgcagggcttgcctttgca	5	10	12	14	2	1	0	0	0	1	0	1	0	1	0	3	3	4	4	3	3	0	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:139401042C>G	ENST00000277541.6	-	24	4026	c.3951G>C	c.(3949-3951)aaG>aaC	p.K1317N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1317	EGF-like 34.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCCCCCATTCTTGCAGGGCT	0.687			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			3	17					0	0	0	0	G	139401042	C	G	139401042	3	3	277	1	0	0	0	0	1	0	0	0	10617	912	32	2	3760	2	NOTCH1	9	139401042	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	3369732	139401042	1812389	169	49763											
NDOR1	27158	broad.mit.edu	37	chr9	140109353	140109353	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgccgctccttcttcgaactCctggcctgtctatccctcca	4	12	6	19	3	2	0	0	0	2	0	7	1	6	0	6	1	1	1	6	1	2	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:140109353C>T	ENST00000371521.4	+	8	1031	c.948C>T	c.(946-948)ctC>ctT	p.L316L	NDOR1_ENST00000344894.5_Silent_p.L316L|NDOR1_ENST00000458322.2_Silent_p.L316L|NDOR1_ENST00000427047.2_Silent_p.L282L	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	316	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCTTCGAACTCCTGGCCTGTC	0.637													67	47					0	0	0	0	T	140109353	C	T	140109353	2	4	277	1	0	0	0	0	0	0	0	1	10319	842	30	2		2	NDOR1	9	140109353	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	708311	140109353	1104078	170	49764											
EHMT1	79813	broad.mit.edu	37	chr9	140728824	140728824	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggtttactgcatcgaCgcgcggttctacgggaacgt	7	9	16	9	6	1	0	0	0	1	0	2	3	1	2	0	5	4	3	0	5	3	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:140728824C>T	ENST00000460843.1	+	26	3591	c.3564C>T	c.(3562-3564)gaC>gaT	p.D1188D		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1188	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACTGCATCGACGCGCGGTTCT	0.672													12	37					0	0	0	0	T	140728824	C	T	140728824	2	4	277	1	0	0	0	0	0	0	0	1	5019	535	19	1		1	EHMT1	9	140728824	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	619471	140728824	484607	171	49765											
GTPBP4	23560	broad.mit.edu	37	chr10	1045024	1045024	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcacatggattataagtatCtacgttggcaggtgagagtc	11	11	13	6	1	1	1	0	1	1	1	2	3	1	2	0	4	1	4	0	4	4	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:1045024C>G	ENST00000360803.4	+	6	725	c.643C>G	c.(643-645)Cta>Gta	p.L215V	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Missense_Mutation_p.L99V|GTPBP4_ENST00000545048.1_Missense_Mutation_p.L168V	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	215					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTATAAGTATCTACGTTGGCA	0.438													13	28					0	0	0	0	G	1045024	C	G	1045024	3	3	277	1	0	0	0	0	1	0	0	0	6932	912	32	2	665	2	GTPBP4	10	1045024	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08		1045024	134489723	172	49766											
CUBN	8029	broad.mit.edu	37	chr10	16957859	16957859	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatctccacgaagtctttttCacagccagaagaattctgaa	13	11	7	10	1	4	3	1	1	3	2	5	5	4	3	2	0	1	0	2	0	4	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:16957859C>G	ENST00000377833.4	-	46	7236	c.7171G>C	c.(7171-7173)Gaa>Caa	p.E2391Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2391	CUB 17.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGTCTTTTTCACAGCCAGAA	0.413													18	39					0	0	0	0	G	16957859	C	G	16957859	3	3	277	1	0	0	0	0	1	0	0	0	4083	835	29	2	3788	2	CUBN	10	16957859	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	15912835	16957859	118576888	173	49767											
KIAA1217	56243	broad.mit.edu	37	chr10	24669819	24669819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaggagccccaaactgtctCacagtcctcaaccacccagt	12	6	6	17	0	2	0	2	0	1	0	4	1	3	1	5	1	3	0	5	1	3	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:24669819C>T	ENST00000376454.3	+	3	406	c.376C>T	c.(376-378)Cac>Tac	p.H126Y	KIAA1217_ENST00000376462.1_Missense_Mutation_p.H46Y|KIAA1217_ENST00000458595.1_Missense_Mutation_p.H126Y|KIAA1217_ENST00000376452.3_Missense_Mutation_p.H126Y|KIAA1217_ENST00000430453.2_Missense_Mutation_p.H47Y	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	126					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAAACTGTCTCACAGTCCTCA	0.468													17	45					0	0	0	0	T	24669819	C	T	24669819	3	4	277	1	0	0	0	0	1	0	0	0	8267	826	29	2	386	2	KIAA1217	10	24669819	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	7711960	24669819	110864928	174	49768											
BAMBI	25805	broad.mit.edu	37	chr10	28971090	28971090	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcttcgaagtgaaaataaGaggctgcaggatcagcggca	14	7	13	7	2	1	2	1	1	0	1	2	4	1	3	0	3	3	4	0	3	4	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:28971090G>C	ENST00000375533.3	+	3	1099	c.543G>C	c.(541-543)aaG>aaC	p.K181N		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	181					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						GTGAAAATAAGAGGCTGCAGG	0.507													18	46					0	0	0	0	C	28971090	G	C	28971090	3	2	277	1	0	0	0	0	1	0	0	0	1310	933	33	2	553	2	BAMBI	10	28971090	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	4301271	28971090	106563657	175	49769											
PCDH15	65217	broad.mit.edu	37	chr10	55582664	55582664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattccagtgttttcattttCagctttctgcctggtgcctt	4	19	8	10	0	3	0	2	0	1	0	4	1	4	0	3	1	3	2	3	1	0	7			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:55582664C>T	ENST00000361849.3	-	34	5222	c.4828G>A	c.(4828-4830)Gaa>Aaa	p.E1610K	PCDH15_ENST00000395433.1_Missense_Mutation_p.E1585K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1608K|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1605K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1568K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1539K|PCDH15_ENST00000395445.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1608					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTTCATTTTCAGCTTTCTGC	0.443										HNSCC(58;0.16)			75	85					0	0	0	0	T	55582664	C	T	55582664	3	4	277	1	0	0	0	0	1	0	0	0	11582	835	29	2	2655	2	PCDH15	10	55582664	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	26611574	55582664	79952083	176	49770											
PHYHIPL	84457	broad.mit.edu	37	chr10	60936718	60936718	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagctgtgcgaccgggaCggtaagagcggccgggaccg	8	5	17	11	6	1	1	1	0	0	1	1	4	1	3	3	4	3	2	3	4	1	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:60936718C>T	ENST00000373880.4	+	1	369	c.106_splice	c.e1+1	p.D35_splice	PHYHIPL_ENST00000433653.1_Splice_Site_p.D35_splice	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	35										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						GCGACCGGGACGGTAAGAGCG	0.697													6	18					0	0	0	0	T	60936718	C	T	60936718	5	4	277	1	0	0	0	0	0	0	1	0	11939	550	19	1	107	1	PHYHIPL	10	60936718	Splice_Site	SNP	C	TCGA-CV-7099-01A-41D-2012-08	5354054	60936718	74598029	177	49771											
DDX21	9188	broad.mit.edu	37	chr10	70737400	70737400	+	Frame_Shift_Del	DEL	G	G	-																															cagcactggcccatatttcaGgtgccacgtccgtagaccag																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:70737400delG	ENST00000354185.4	+	12	1956	c.1858delG	c.(1858-1860)gtfs	p.G620fs		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	620						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCATATTTCAGGTGCCACGTC	0.502													77	83	---	---	---	---					-	70737400	G	-	70737400	7	5	277	1	0	1	0	1	0	0	0	0	4381	1000	35	0	1904	0	DDX21	10	70737400	Frame_Shift_Del	DEL	G	TCGA-CV-7099-01A-41D-2012-08	9800682	70737400	64797347	178	49772											
ZNF503	84858	broad.mit.edu	37	chr10	77158680	77158680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgcgtggtgggggctgcGcagcgccagcgtcccagggc	4	4	19	14	5	0	0	0	0	0	0	1	0	1	0	2	4	4	2	2	4	0	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:77158680G>C	ENST00000372524.4	-	2	2254	c.1768C>G	c.(1768-1770)Cgc>Ggc	p.R590G	ZNF503_ENST00000535216.1_Missense_Mutation_p.R590G|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TGGGGGCTGCGCAGCGCCAGC	0.751													5	9					0	0	0	0	C	77158680	G	C	77158680	3	2	277	1	0	0	0	0	1	0	0	0	18046	1087	38	3	176	3	ZNF503	10	77158680	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	6421280	77158680	58376067	179	49773											
WAPAL	23063	broad.mit.edu	37	chr10	88277758	88277758	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagtccgtttgttggaaaaGacttcatcgaattttgaact	11	15	9	6	2	1	2	1	1	0	1	3	4	2	3	1	1	1	3	1	1	5	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:88277758G>C	ENST00000298767.5	-	2	541	c.69C>G	c.(67-69)gtC>gtG	p.V23V		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	23	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGTTGGAAAAGACTTCATCGA	0.398													4	49					0	0	0	0	C	88277758	G	C	88277758	2	2	277	1	0	0	0	0	0	0	0	1	17344	929	33	2		2	WAPAL	10	88277758	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	11119078	88277758	47256989	180	49774											
LCOR	84458	broad.mit.edu	37	chr10	98714869	98714869	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagattagtgaagaactactGagcagaaaccaattgtccac	16	8	8	9	0	0	5	0	2	0	3	1	5	1	5	2	0	4	1	2	0	6	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:98714869G>A	ENST00000540664.1	+	8	1035	c.492G>A	c.(490-492)ctG>ctA	p.L164L	LCOR_ENST00000371097.4_Silent_p.L164L|LCOR_ENST00000356016.3_Silent_p.L164L|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Silent_p.L164L	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		AAGAACTACTGAGCAGAAACC	0.478													21	31					0	0	0	0	A	98714869	G	A	98714869	2	1	277	1	0	0	0	0	0	0	0	1	8742	1277	45	2		2	LCOR	10	98714869	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	10437111	98714869	36819878	181	49775											
GBF1	8729	broad.mit.edu	37	chr10	104125205	104125205	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaccaaagaaggggattCagtttctgcaagagaaaggc	17	6	12	6	0	2	3	1	0	1	3	2	5	2	4	1	3	2	2	1	3	5	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:104125205C>T	ENST00000369983.3	+	18	2415	c.2155C>T	c.(2155-2157)Cag>Tag	p.Q719*		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	719	SEC7.				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)		GAAGGGGATTCAGTTTCTGCA	0.473													14	41					0	0	0	0	T	104125205	C	T	104125205	4	4	277	1	0	0	0	0	0	1	0	0	6320	827	29	2	2221	2	GBF1	10	104125205	Nonsense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	5410336	104125205	31409542	182	49776											
KNDC1	85442	broad.mit.edu	37	chr10	135015069	135015069	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcacccacctcggtgtcGgatgtggactcggacgcact	6	9	12	14	4	1	0	1	0	0	0	4	3	1	3	2	4	1	2	2	4	0	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:135015069G>A	ENST00000304613.3	+	17	3075	c.3054G>A	c.(3052-3054)tcG>tcA	p.S1018S	KNDC1_ENST00000368571.2_Silent_p.S953S|KNDC1_ENST00000368572.2_Silent_p.S1020S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1018					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTCGGTGTCGGATGTGGACT	0.617													36	68					0	0	0	0	A	135015069	G	A	135015069	2	1	277	1	0	0	0	0	0	0	0	1	8478	1103	39	1		1	KNDC1	10	135015069	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	30889864	135015069	519678	183	49777											
KNDC1	85442	broad.mit.edu	37	chr10	135015189	135015189	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacagacggccagctggCggggcctcagacgtggaggc	8	3	19	11	3	1	2	1	0	0	2	1	5	1	4	2	7	1	1	2	7	0	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:135015189C>T	ENST00000304613.3	+	17	3195	c.3174C>T	c.(3172-3174)ggC>ggT	p.G1058G	KNDC1_ENST00000368571.2_Silent_p.G993G|KNDC1_ENST00000368572.2_Silent_p.G1060G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1058					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCCAGCTGGCGGGGCCTCAG	0.682													11	34					0	0	0	0	T	135015189	C	T	135015189	2	4	277	1	0	0	0	0	0	0	0	1	8478	755	27	1		1	KNDC1	10	135015189	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	120	135015189	519558	184	49778											
EPS8L2	64787	broad.mit.edu	37	chr11	721618	721618	+	Silent	SNP	G	G	A																															tggtttgtggcccggctgcaGaaggcagccgaggctttcaa																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:721618G>A	ENST00000533256.1	+	11	1197	c.822G>A	c.(820-822)caG>caA	p.Q274Q	EPS8L2_ENST00000318562.8_Silent_p.Q274Q|EPS8L2_ENST00000526198.1_Silent_p.Q290Q|EPS8L2_ENST00000530636.1_Silent_p.Q274Q|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	274						cytoplasm		p.Q274Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGGCTGCAGAAGGCAGCCG	0.647													29	54					0	0	0	0	A	721618	G	A	721618	2	1	277	1	0	0	0	0	0	0	0	1	5234	933	33	2		2	EPS8L2	11	721618	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08		721618	134284898	185	49779	389	2									
EPS8L2	64787	broad.mit.edu	37	chr11	721628	721628	+	Missense_Mutation	SNP	G	G	A																															cccggctgcagaaggcagccGaggctttcaagcagctgaac																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:721628G>A	ENST00000533256.1	+	11	1207	c.832G>A	c.(832-834)Gag>Aag	p.E278K	EPS8L2_ENST00000318562.8_Missense_Mutation_p.E278K|EPS8L2_ENST00000526198.1_Missense_Mutation_p.E294K|EPS8L2_ENST00000530636.1_Missense_Mutation_p.E278K|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	278						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAAGGCAGCCGAGGCTTTCAA	0.647													27	50					0	0	0	0	A	721628	G	A	721628	3	1	277	1	0	0	0	0	1	0	0	0	5234	1059	37	1	866	1	EPS8L2	11	721628	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	10	721628	134284888	186	49780	389	2									
NUP98	4928	broad.mit.edu	37	chr11	3740767	3740767	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcacatctccttcaaaataGattgaaccataacctataaa	17	12	2	10	0	3	2	2	1	1	1	4	2	3	2	3	0	2	0	3	0	8	7			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:3740767G>C	ENST00000324932.7	-	18	2694	c.2274C>G	c.(2272-2274)atC>atG	p.I758M	NUP98_ENST00000397004.4_Missense_Mutation_p.I758M|NUP98_ENST00000397007.4_Missense_Mutation_p.I775M|NUP98_ENST00000359171.4_Missense_Mutation_p.I758M|NUP98_ENST00000355260.3_Missense_Mutation_p.I758M	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	775	Peptidase S59.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTTCAAAATAGATTGAACCAT	0.308			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								9	23					0	0	0	0	C	3740767	G	C	3740767	3	2	277	1	0	0	0	0	1	0	0	0	10844	932	33	2	3213	2	NUP98	11	3740767	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	3019139	3740767	131265749	187	49781											
SYT9	143425	broad.mit.edu	37	chr11	7334938	7334938	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttcctgatcggaaaacAaaacaccagactaaagttca	16	9	6	10	1	1	2	1	1	0	1	3	3	2	3	2	1	3	2	2	1	6	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:7334938A>G	ENST00000318881.6	+	3	1047	c.810A>G	c.(808-810)acA>acG	p.T270T	SYT9_ENST00000396716.2_Silent_p.T238T	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	270	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATCGGAAAACAAAACACCAGA	0.423													9	184					0	0	0	0	G	7334938	A	G	7334938	2	3	277	1	0	0	0	0	0	0	0	1	15572	117	5	5		5	SYT9	11	7334938	Silent	SNP	A	TCGA-CV-7099-01A-41D-2012-08	3594171	7334938	127671578	188	49782											
ST5	6764	broad.mit.edu	37	chr11	8724164	8724164	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccggcgctccagcagcagtGaggcaaagattcggatgagc	10	5	14	12	3	0	3	0	2	0	1	2	4	1	4	2	3	3	4	2	3	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:8724164G>C	ENST00000534127.1	-	17	3060	c.2675C>G	c.(2674-2676)tCa>tGa	p.S892*	ST5_ENST00000526757.1_Nonsense_Mutation_p.S472*|ST5_ENST00000534278.1_Nonsense_Mutation_p.S83*|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Nonsense_Mutation_p.S364*|ST5_ENST00000530438.1_Nonsense_Mutation_p.S472*|ST5_ENST00000357665.1_Nonsense_Mutation_p.S892*|ST5_ENST00000526099.1_Nonsense_Mutation_p.S405*|ST5_ENST00000313726.6_Nonsense_Mutation_p.S892*	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	892	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CAGCAGCAGTGAGGCAAAGAT	0.592													16	55					0	0	0	0	C	8724164	G	C	8724164	4	2	277	1	0	0	0	0	0	1	0	0	15310	1294	45	2	766	2	ST5	11	8724164	Nonsense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1389226	8724164	126282352	189	49783											
ARNTL	406	broad.mit.edu	37	chr11	13397291	13397291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagtagaatatattgtctCaactaacactgttgttttgt	12	16	8	5	0	1	1	1	0	1	1	2	2	1	2	0	1	2	3	0	1	7	8			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:13397291C>T	ENST00000389708.3	+	15	1662	c.1307C>T	c.(1306-1308)tCa>tTa	p.S436L	ARNTL_ENST00000361003.4_Missense_Mutation_p.S318L|ARNTL_ENST00000403482.3_Missense_Mutation_p.S434L|ARNTL_ENST00000396441.3_Missense_Mutation_p.S435L|ARNTL_ENST00000401424.1_Missense_Mutation_p.S393L|ARNTL_ENST00000389707.4_Missense_Mutation_p.S435L|ARNTL_ENST00000403510.3_Missense_Mutation_p.S392L|ARNTL_ENST00000403290.1_Missense_Mutation_p.S436L			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	436	PAC.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TATATTGTCTCAACTAACACT	0.403													12	21					0	0	0	0	T	13397291	C	T	13397291	3	4	277	1	0	0	0	0	1	0	0	0	971	838	29	2	1361	2	ARNTL	11	13397291	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	4673127	13397291	121609225	190	49784											
MYBPC3	4607	broad.mit.edu	37	chr11	47353698	47353698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagacatagatgcccccgtCaaaggggcagggctttctaa	11	7	12	11	1	2	2	1	0	1	2	2	2	2	2	2	3	1	3	2	3	3	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:47353698C>T	ENST00000545968.1	-	33	3793	c.3739G>A	c.(3739-3741)Gac>Aac	p.D1247N	MYBPC3_ENST00000399249.2_Missense_Mutation_p.D1247N|MYBPC3_ENST00000256993.4_Missense_Mutation_p.D1246N	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1246	Ig-like C2-type 7.		G -> R (in CMH4).		cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ATGCCCCCGTCAAAGGGGCAG	0.627													28	48					0	0	0	0	T	47353698	C	T	47353698	3	4	277	1	0	0	0	0	1	0	0	0	10083	826	29	2	93	2	MYBPC3	11	47353698	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	33956407	47353698	87652818	191	49785											
OR4S2	219431	broad.mit.edu	37	chr11	55418944	55418944	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaaacttgcctgcacaGaaacatacattgttggtgtt	11	14	9	7	0	0	2	0	1	0	1	0	2	0	2	1	1	5	4	1	1	3	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:55418944G>T	ENST00000312422.2	+	1	565	c.565G>T	c.(565-567)Gaa>Taa	p.E189*		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	189					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)				TGCCTGCACAGAAACATACAT	0.438													35	170					9.17885e-22	1.37923e-21	1	0	T	55418944	G	T	55418944	4	4	277	1	0	0	0	0	0	1	0	0	11154	943	33	2	567	2	OR4S2	11	55418944	Nonsense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	8065246	55418944	79587572	192	49786											
SMTNL1	219537	broad.mit.edu	37	chr11	57310335	57310335	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggggaagcaaatggattaGatgaggtcaaagtggaatct	15	8	15	3	0	2	2	1	1	1	1	2	5	2	5	0	5	1	1	0	5	5	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:57310335G>C	ENST00000457912.1	+	2	274	c.274G>C	c.(274-276)Gat>Cat	p.D92H	SMTNL1_ENST00000399154.2_Missense_Mutation_p.D74H|SMTNL1_ENST00000527972.1_Missense_Mutation_p.D74H			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	74										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AAATGGATTAGATGAGGTCAA	0.542													3	8					0	0	0	0	C	57310335	G	C	57310335	3	2	277	1	0	0	0	0	1	0	0	0	14903	942	33	2	280	2	SMTNL1	11	57310335	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1891391	57310335	77696181	193	49787											
OSBP	5007	broad.mit.edu	37	chr11	59377944	59377944	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttctgaactagctttcaGatggtaggtctgagcacccc	10	11	9	11	0	3	3	1	2	2	1	3	3	3	3	2	2	4	3	2	2	4	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:59377944G>A	ENST00000263847.1	-	2	960	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	161	PH.				lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CTAGCTTTCAGATGGTAGGTC	0.557													28	75					0	0	0	0	A	59377944	G	A	59377944	2	1	277	1	0	0	0	0	0	0	0	1	11344	933	33	2		2	OSBP	11	59377944	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	2067609	59377944	75628572	194	49788											
CABP4	57010	broad.mit.edu	37	chr11	67223246	67223246	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catacgggcccctgctcaatCgagtcttcgggaaggttagg	8	9	13	11	3	2	0	1	0	1	0	4	2	2	1	2	4	2	2	2	4	4	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:67223246C>T	ENST00000325656.5	+	1	429	c.352C>T	c.(352-354)Cga>Tga	p.R118*	CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	118					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCTGCTCAATCGAGTCTTCGG	0.662													6	11					0	0	0	0	T	67223246	C	T	67223246	4	4	277	1	0	0	0	0	0	1	0	0	2558	876	31	1	354	1	CABP4	11	67223246	Nonsense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	7845302	67223246	67783270	195	49789											
MTL5	9633	broad.mit.edu	37	chr11	68514686	68514686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcataattaccattgggttgGaatctttcttaagagaacag	13	13	9	6	0	2	1	0	0	2	1	2	3	2	2	1	2	2	2	1	2	5	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:68514686G>T	ENST00000443940.2	-	3	706	c.620C>A	c.(619-621)tCc>tAc	p.S207Y	MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.S207Y|MTL5_ENST00000255087.5_Missense_Mutation_p.S207Y			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	207					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CATTGGGTTGGAATCTTTCTT	0.418													11	31					1.61879e-10	2.38865e-10	1	0	T	68514686	G	T	68514686	3	4	277	1	0	0	0	0	1	0	0	0	10006	1174	41	2	942	2	MTL5	11	68514686	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1291440	68514686	66491830	196	49790											
GDPD5	81544	broad.mit.edu	37	chr11	75148046	75148046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggcgcaccgcagcactcAgcatgatctgctcagggttg	7	8	12	14	3	3	1	2	1	1	0	4	1	4	1	2	2	3	6	2	2	0	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:75148046A>G	ENST00000526177.1	-	12	3068	c.1190T>C	c.(1189-1191)cTg>cCg	p.L397P	GDPD5_ENST00000376282.3_Missense_Mutation_p.L416P|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Missense_Mutation_p.L535P|GDPD5_ENST00000336898.3_Missense_Mutation_p.L535P|GDPD5_ENST00000533805.1_Missense_Mutation_p.L290P|GDPD5_ENST00000533784.1_Missense_Mutation_p.L416P			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	535	GDPD.			QRP -> GS (in Ref. 6; AAP97686).	glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CGCAGCACTCAGCATGATCTG	0.622													13	33					0	0	0	0	G	75148046	A	G	75148046	3	3	277	1	0	0	0	0	1	0	0	0	6378	188	7	5	221	5	GDPD5	11	75148046	Missense_Mutation	SNP	A	TCGA-CV-7099-01A-41D-2012-08	6633360	75148046	59858470	197	49791											
SERPINH1	871	broad.mit.edu	37	chr11	75277820	75277820	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacccagctcagtgagcttCgctgatgacttcgtgcgcag	7	9	13	12	3	1	3	1	3	0	0	3	4	1	4	1	1	3	4	1	1	0	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:75277820C>T	ENST00000524558.1	+	2	1861	c.426C>T	c.(424-426)ttC>ttT	p.F142F	SERPINH1_ENST00000358171.3_Silent_p.F142F|SERPINH1_ENST00000530284.1_Silent_p.F142F|SERPINH1_ENST00000533603.1_Silent_p.F142F			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	142					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CAGTGAGCTTCGCTGATGACT	0.627													8	38					0	0	0	0	T	75277820	C	T	75277820	2	4	277	1	0	0	0	0	0	0	0	1	14204	883	31	1		1	SERPINH1	11	75277820	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	129774	75277820	59728696	198	49792											
THRSP	7069	broad.mit.edu	37	chr11	77775068	77775068	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctgagtgggcctgggggCcaggcccaggctgaggcccc	5	4	18	14	0	0	2	0	2	0	0	0	2	0	2	5	6	1	2	5	6	0	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:77775068C>G	ENST00000281030.2	+	1	162	c.141C>G	c.(139-141)ggC>ggG	p.G47G	NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	47					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			GGCCTGGGGGCCAGGCCCAGG	0.637													19	105					0	0	0	0	G	77775068	C	G	77775068	2	3	277	1	0	0	0	0	0	0	0	1	15970	726	26	4		4	THRSP	11	77775068	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2497248	77775068	57231448	199	49793											
DSCAML1	57453	broad.mit.edu	37	chr11	117308639	117308639	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggtcttggcctcgatgatCtcgctgatgcgcccagagcc	5	10	13	13	3	2	3	0	2	2	1	4	4	2	3	3	2	2	1	3	2	0	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:117308639C>G	ENST00000321322.6	-	25	4585	c.4584G>C	c.(4582-4584)gaG>gaC	p.E1528D	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1258D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1468	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCTCGATGATCTCGCTGATGC	0.662													3	27					0	0	0	0	G	117308639	C	G	117308639	3	3	277	1	0	0	0	0	1	0	0	0	4805	912	32	2	1793	2	DSCAML1	11	117308639	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	39533571	117308639	17697877	200	49794											
CHD4	1108	broad.mit.edu	37	chr12	6709458	6709458	+	Silent	SNP	G	G	T																															cagaccatgtggtaagcacgGggacaggtatcacacaggat																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:6709458G>T	ENST00000309577.6	-	9	1330	c.1167C>A	c.(1165-1167)ccC>ccA	p.P389P	CHD4_ENST00000544484.1_Silent_p.P386P|CHD4_ENST00000357008.2_Silent_p.P389P|CHD4_ENST00000544040.1_Silent_p.P382P			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	389					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGTAAGCACGGGGACAGGTAT	0.592													15	99					1.15088e-07	1.67241e-07	1	0	T	6709458	G	T	6709458	2	4	277	1	0	0	0	0	0	0	0	1	3356	1219	43	4		4	CHD4	12	6709458	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08		6709458	127142437	201	49795	390	2									
CHD4	1108	broad.mit.edu	37	chr12	6709459	6709459	+	Missense_Mutation	SNP	G	G	A																															agaccatgtggtaagcacggGgacaggtatcacacaggatg																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:6709459G>A	ENST00000309577.6	-	9	1329	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	CHD4_ENST00000544484.1_Missense_Mutation_p.P386L|CHD4_ENST00000357008.2_Missense_Mutation_p.P389L|CHD4_ENST00000544040.1_Missense_Mutation_p.P382L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	389					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GTAAGCACGGGGACAGGTATC	0.592													16	98					0	0	0	0	A	6709459	G	A	6709459	3	1	277	1	0	0	0	0	1	0	0	0	3356	1232	43	4	4700	4	CHD4	12	6709459	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1	6709459	127142436	202	49796	390	2									
PTPN6	5777	broad.mit.edu	37	chr12	7069304	7069304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagatggtgcgggcgcagCgctcgggcatggtgcagacg	6	6	18	11	5	0	2	0	0	0	2	2	2	1	2	1	4	3	4	1	4	0	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:7069304C>T	ENST00000456013.1	+	13	1725	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C	PTPN6_ENST00000539029.1_3'UTR|PTPN6_ENST00000318974.9_Missense_Mutation_p.R495C|PTPN6_ENST00000399448.1_Missense_Mutation_p.R497C|PTPN6_ENST00000447931.2_Missense_Mutation_p.R456C	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	495	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GCGGGCGCAGCGCTCGGGCAT	0.592													10	42					0	0	0	0	T	7069304	C	T	7069304	3	4	277	1	0	0	0	0	1	0	0	0	12874	768	27	1	1551	1	PTPN6	12	7069304	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	359845	7069304	126782591	203	49797											
TAS2R14	50840	broad.mit.edu	37	chr12	11091369	11091369	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatatggatgtttatcagTgcaatatttaaaaacaagaa	17	15	6	3	0	1	1	1	0	0	1	1	2	1	2	0	1	2	2	0	1	10	8			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:11091369T>C	ENST00000537503.1	-	1	493	c.438A>G	c.(436-438)gcA>gcG	p.A146A	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	146					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TGTTTATCAGTGCAATATTTA	0.343													16	37					0	0	0	0	C	11091369	T	C	11091369	2	2	277	1	0	0	0	0	0	0	0	1	15659	1683	59	5		5	TAS2R14	12	11091369	Silent	SNP	T	TCGA-CV-7099-01A-41D-2012-08	4022065	11091369	122760526	204	49798											
SLC4A8	9498	broad.mit.edu	37	chr12	51868959	51868959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcaagcaccttaaagaCgtttaagacgagccgttatt	12	11	7	11	3	1	2	1	0	1	2	2	3	1	2	3	0	2	3	3	0	5	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:51868959C>T	ENST00000453097.2	+	16	2358	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	SLC4A8_ENST00000514353.3_Missense_Mutation_p.T661M|SLC4A8_ENST00000394856.1_Missense_Mutation_p.T661M|SLC4A8_ENST00000358657.3_Missense_Mutation_p.T741M	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	714					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ACCTTAAAGACGTTTAAGACG	0.443													5	80					0	0	0	0	T	51868959	C	T	51868959	3	4	277	1	0	0	0	0	1	0	0	0	14747	536	19	1	2203	1	SLC4A8	12	51868959	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	40777590	51868959	81982936	205	49799											
KRT6A	3853	broad.mit.edu	37	chr12	52882219	52882220	+	Frame_Shift_Ins	INS	-	-	T																															tcagcagccgggccaggtccINStgcttggccttctgcagggc																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:52882219_52882220insT	ENST00000330722.6	-	7	1384_1385	c.1316_1317insA	c.(1315-1317)cgafs	p.R439fs		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	439	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCCAGGTCCTGCTTGGCCTT	0.624													8	116	---	---	---	---					T	52882220	-	T	52882219	7	5	277	1	0	1	1	0	0	0	0	0	8532	680	24	0	389	0	KRT6A	12	52882219	Frame_Shift_Ins	INS	-	TCGA-CV-7099-01A-41D-2012-08	1013260	52882219	80969676	206	49800											
KRT1	3848	broad.mit.edu	37	chr12	53071509	53071509	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaaggtccaccttggtCatataagcaccatccacatc	11	9	7	14	0	1	1	1	1	0	0	4	1	3	1	5	2	1	1	5	2	3	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:53071509C>A	ENST00000252244.3	-	4	946	c.888G>T	c.(886-888)atG>atT	p.M296I		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	296	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCACCTTGGTCATATAAGCAC	0.478													25	60					7.92952e-12	1.17916e-11	1	0	A	53071509	C	A	53071509	3	1	277	1	0	0	0	0	1	0	0	0	8499	826	29	2	1070	2	KRT1	12	53071509	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	189290	53071509	80780386	207	49801											
ERBB3	2065	broad.mit.edu	37	chr12	56477581	56477581	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtgaccggcgatgctgaGaaccaataccagacactgta	13	7	11	10	2	0	3	0	2	0	2	0	5	0	3	3	1	3	2	3	1	4	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:56477581G>A	ENST00000267101.3	+	2	569	c.129G>A	c.(127-129)gaG>gaA	p.E43E	ERBB3_ENST00000415288.2_5'UTR|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Silent_p.E43E	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	43					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCGATGCTGAGAACCAATACC	0.547													51	138					0	0	0	0	A	56477581	G	A	56477581	2	1	277	1	0	0	0	0	0	0	0	1	5246	933	33	2		2	ERBB3	12	56477581	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	3406072	56477581	77374314	208	49802											
ERBB3	2065	broad.mit.edu	37	chr12	56481620	56481620	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagtgtaatggtcactgcTttgggcccaaccccaaccag	9	9	9	14	0	2	0	2	0	0	0	2	0	2	0	4	2	3	2	4	2	3	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:56481620T>C	ENST00000267101.3	+	6	1095	c.655T>C	c.(655-657)Ttt>Ctt	p.F219L	ERBB3_ENST00000415288.2_Missense_Mutation_p.F160L|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	219					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGGTCACTGCTTTGGGCCCAA	0.547													26	89					0	0	0	0	C	56481620	T	C	56481620	3	2	277	1	0	0	0	0	1	0	0	0	5246	1609	56	5	808	5	ERBB3	12	56481620	Missense_Mutation	SNP	T	TCGA-CV-7099-01A-41D-2012-08	4039	56481620	77370275	209	49803											
CAND1	55832	broad.mit.edu	37	chr12	67706416	67706416	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcagtaaagcaggagtttGaaaaacaagatgaattaaag	20	8	9	4	0	1	3	1	2	0	1	1	4	1	4	0	1	2	3	0	1	8	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:67706416G>C	ENST00000545606.1	+	15	3936	c.3499G>C	c.(3499-3501)Gaa>Caa	p.E1167Q		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1167					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GCAGGAGTTTGAAAAACAAGA	0.393													9	18					0	0	0	0	C	67706416	G	C	67706416	3	2	277	1	0	0	0	0	1	0	0	0	2640	1291	45	2	3557	2	CAND1	12	67706416	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	11224796	67706416	66145479	210	49804											
LRRIQ1	84125	broad.mit.edu	37	chr12	85434273	85434273	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcaaatttttaggattcAgttgaattaccagaatcagt	14	16	6	5	0	3	2	3	1	0	1	3	3	3	3	1	1	1	1	1	1	6	8			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:85434273A>G	ENST00000393217.2	+	3	199	c.138A>G	c.(136-138)tcA>tcG	p.S46S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	46										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTAGGATTCAGTTGAATTAC	0.328													22	53					0	0	0	0	G	85434273	A	G	85434273	2	3	277	1	0	0	0	0	0	0	0	1	9093	175	7	5		5	LRRIQ1	12	85434273	Silent	SNP	A	TCGA-CV-7099-01A-41D-2012-08	17727857	85434273	48417622	211	49805											
STAB2	55576	broad.mit.edu	37	chr12	104063327	104063327	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttttcagattccaaaGtgctgcaaaggcttctatgg	9	16	9	7	0	2	1	1	0	1	1	3	1	3	1	1	2	2	4	1	2	3	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:104063327G>A	ENST00000388887.2	+	21	2385	c.2181G>A	c.(2179-2181)aaG>aaA	p.K727K		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	727					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGATTCCAAAGTGCTGCAAAG	0.438													4	79					0	0	0	0	A	104063327	G	A	104063327	2	1	277	1	0	0	0	0	0	0	0	1	15328	1020	36	4		4	STAB2	12	104063327	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	18629054	104063327	29788568	212	49806											
HCFC2	29915	broad.mit.edu	37	chr12	104461751	104461751	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgttggttatggaaaaaagtGaaaccccatccccctccttc	11	10	7	13	1	0	1	0	1	0	0	3	2	2	2	5	2	1	2	5	2	5	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:104461751G>C	ENST00000229330.4	+	3	443	c.339G>C	c.(337-339)gtG>gtC	p.V113V		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	113					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGAAAAAAGTGAAACCCCATC	0.408													53	119					0	0	0	0	C	104461751	G	C	104461751	2	2	277	1	0	0	0	0	0	0	0	1	7043	1277	45	2		2	HCFC2	12	104461751	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	398424	104461751	29390144	213	49807											
ACAD10	80724	broad.mit.edu	37	chr12	112183993	112183993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaccttttcctacccttaGaggctgatcccgagaaaaaa	13	9	8	11	1	0	3	0	1	0	2	2	5	2	4	4	2	2	1	4	2	6	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:112183993G>C	ENST00000455480.2	+	15	2431	c.2254G>C	c.(2254-2256)Gag>Cag	p.E752Q	ACAD10_ENST00000392636.2_Missense_Mutation_p.E323Q|ACAD10_ENST00000313698.4_Missense_Mutation_p.E721Q|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	721							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCTACCCTTAGAGGCTGATCC	0.468													21	44					0	0	0	0	C	112183993	G	C	112183993	3	2	277	1	0	0	0	0	1	0	0	0	108	943	33	2	2308	2	ACAD10	12	112183993	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	7722242	112183993	21667902	214	49808											
KNTC1	9735	broad.mit.edu	37	chr12	123102942	123102942	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatacagataccactgctttCaggtatttcgctctctgaaa	11	13	7	10	1	2	2	1	1	1	1	4	3	2	2	1	1	3	3	1	1	4	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:123102942C>G	ENST00000333479.7	+	58	6260	c.6083C>G	c.(6082-6084)tCa>tGa	p.S2028*	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Nonsense_Mutation_p.S953*|KNTC1_ENST00000537348.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	2028					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCACTGCTTTCAGGTATTTCG	0.393													11	24					0	0	0	0	G	123102942	C	G	123102942	4	3	277	1	0	0	0	0	0	1	0	0	8480	838	29	2	6309	2	KNTC1	12	123102942	Nonsense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	10918949	123102942	10748953	215	49809											
DDX55	57696	broad.mit.edu	37	chr12	124092179	124092179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatcggaggcaggaatcctgGagaagatgttgagaggttta	12	9	16	4	1	0	3	0	1	0	3	2	8	1	5	1	5	0	3	1	5	3	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:124092179G>A	ENST00000238146.4	+	5	421	c.371G>A	c.(370-372)gGa>gAa	p.G124E	DDX55_ENST00000538744.1_Missense_Mutation_p.G124E	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	124	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		AGGAATCCTGGAGAAGATGTT	0.443													42	129					0	0	0	0	A	124092179	G	A	124092179	3	1	277	1	0	0	0	0	1	0	0	0	4405	1174	41	2	389	2	DDX55	12	124092179	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	989237	124092179	9759716	216	49810											
IFT88	8100	broad.mit.edu	37	chr13	21172820	21172820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttggccagtcagtattcaGttaatgaaatgtatgccgaa	13	13	9	6	1	2	1	2	1	0	0	2	2	2	1	2	1	1	3	2	1	5	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:21172820G>T	ENST00000382778.4	+	11	1770	c.652G>T	c.(652-654)Gtt>Ttt	p.V218F	IFT88_ENST00000537103.1_Missense_Mutation_p.V190F|IFT88_ENST00000351808.5_Missense_Mutation_p.V209F|IFT88_ENST00000319980.6_Missense_Mutation_p.V218F			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	218					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	p.V218I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TCAGTATTCAGTTAATGAAAT	0.323													9	81					2.80697e-09	4.12072e-09	1	0	T	21172820	G	T	21172820	3	4	277	1	0	0	0	0	1	0	0	0	7619	1029	36	4	690	4	IFT88	13	21172820	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08		21172820	93997058	217	49811											
SLC7A1	6541	broad.mit.edu	37	chr13	30091803	30091803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttttcaaagagaacatctCtgcctctggtaaaaagccca	13	10	8	10	0	3	1	1	0	2	1	4	2	3	1	2	2	3	2	2	2	5	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:30091803C>T	ENST00000380752.5	-	10	1803	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	473					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GAGAACATCTCTGCCTCTGGT	0.453													10	88					0	0	0	0	T	30091803	C	T	30091803	3	4	277	1	0	0	0	0	1	0	0	0	14780	922	32	2	488	2	SLC7A1	13	30091803	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	8918983	30091803	85078075	218	49812											
SERPINE3	647174	broad.mit.edu	37	chr13	51922447	51922447	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgctgccccgtgacaaaGacacccccctgagccacatc	9	6	9	17	1	0	3	0	2	0	1	1	3	0	3	6	1	3	1	6	1	1	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:51922447G>C	ENST00000524365.1	+	7	1424	c.799G>C	c.(799-801)Gac>Cac	p.D267H	SERPINE3_ENST00000400389.4_Missense_Mutation_p.D267H|SERPINE3_ENST00000521255.1_Missense_Mutation_p.D267H			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	267					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CCGTGACAAAGACACCCCCCT	0.612													16	22					0	0	0	0	C	51922447	G	C	51922447	3	2	277	1	0	0	0	0	1	0	0	0	14200	942	33	2	813	2	SERPINE3	13	51922447	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	21830644	51922447	63247431	219	49813											
MYCBP2	23077	broad.mit.edu	37	chr13	77667369	77667369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttgcatcaggagttactGatatatacggggcaggtaca	12	10	12	7	1	1	1	1	1	0	0	1	3	1	2	0	4	4	4	0	4	5	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:77667369G>A	ENST00000407578.2	-	59	10564	c.10298C>T	c.(10297-10299)tCa>tTa	p.S3433L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3395L|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S3395L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGGAGTTACTGATATATACGG	0.393													5	80					0	0	0	0	A	77667369	G	A	77667369	3	1	277	1	0	0	0	0	1	0	0	0	10088	1294	45	2	3838	2	MYCBP2	13	77667369	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	25744922	77667369	37502509	220	49814											
KDELC1	79070	broad.mit.edu	37	chr13	103450951	103450951	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccgggctcagctgcctttCtccgccggtctcggcgagtg	2	10	13	16	5	3	0	1	0	2	0	6	1	4	0	4	3	2	2	4	3	0	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:103450951C>G	ENST00000376004.4	-	1	406	c.70G>C	c.(70-72)Gaa>Caa	p.E24Q	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	24						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGCTGCCTTTCTCCGCCGGTC	0.532													20	28					0	0	0	0	G	103450951	C	G	103450951	3	3	277	1	0	0	0	0	1	0	0	0	8170	922	32	2	1478	2	KDELC1	13	103450951	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	25783582	103450951	11718927	221	49815											
SOX1	6656	broad.mit.edu	37	chr13	112722212	112722212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaagatgcacaactcggaGatcagcaagcgcctgggggc	11	4	13	13	2	1	2	1	0	0	2	2	3	1	2	2	3	4	2	2	3	3	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:112722212G>A	ENST00000330949.1	+	1	300	c.240G>A	c.(238-240)gaG>gaA	p.E80E		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	80					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		ACAACTCGGAGATCAGCAAGC	0.657													22	23					0	0	0	0	A	112722212	G	A	112722212	2	1	277	1	0	0	0	0	0	0	0	1	15028	933	33	2		2	SOX1	13	112722212	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	9271261	112722212	2447666	222	49816											
CDH24	64403	broad.mit.edu	37	chr14	23518917	23518917	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctactgttgccaacttcatCtctgtccagggcccggatga	7	11	10	13	1	2	1	1	1	1	0	4	2	3	2	3	2	3	2	3	2	2	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:23518917C>G	ENST00000397359.3	-	11	1889	c.1630G>C	c.(1630-1632)Gat>Cat	p.D544H	CDH24_ENST00000487137.2_Missense_Mutation_p.D506H|CDH24_ENST00000554034.1_Missense_Mutation_p.D506H|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000267383.5_Missense_Mutation_p.D544H	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	544	Cadherin 5.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCAACTTCATCTCTGTCCAGG	0.582													8	16					0	0	0	0	G	23518917	C	G	23518917	3	3	277	1	0	0	0	0	1	0	0	0	3138	913	32	2	841	2	CDH24	14	23518917	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08		23518917	83830623	223	49817											
PRKD1	5587	broad.mit.edu	37	chr14	30046490	30046490	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttcatttctgtttctTcagtctcaggagtgtcactg	5	17	10	9	0	6	0	4	0	3	0	7	1	6	1	0	2	0	2	0	2	0	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:30046490T>A	ENST00000331968.5	-	18	2922	c.2693A>T	c.(2692-2694)gAa>gTa	p.E898V	PRKD1_ENST00000415220.2_Missense_Mutation_p.E906V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	898					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTCTGTTTCTTCAGTCTCAGG	0.493													13	79					0	0	0	0	A	30046490	T	A	30046490	3	1	277	1	0	0	0	0	1	0	0	0	12598	1783	62	5	49	5	PRKD1	14	30046490	Missense_Mutation	SNP	T	TCGA-CV-7099-01A-41D-2012-08	6527573	30046490	77303050	224	49818											
HEATR5A	25938	broad.mit.edu	37	chr14	31813139	31813139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctagacaagttgacatgtCgtggagcaaacatatgaagc	14	8	12	7	1	0	3	0	2	0	1	1	4	0	4	0	2	3	3	0	2	5	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:31813139C>T	ENST00000543095.2	-	21	3375	c.3191G>A	c.(3190-3192)cGa>cAa	p.R1064Q	HEATR5A_ENST00000439727.1_Missense_Mutation_p.R771Q|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R1058Q|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1058Q|HEATR5A_ENST00000404677.3_Missense_Mutation_p.R1064Q	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1058							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GTTGACATGTCGTGGAGCAAA	0.428													16	46					0	0	0	0	T	31813139	C	T	31813139	3	4	277	1	0	0	0	0	1	0	0	0	7081	884	31	1	3013	1	HEATR5A	14	31813139	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1766649	31813139	75536401	225	49819											
ATP6V1D	51382	broad.mit.edu	37	chr14	67815782	67815782	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatctttcttcgctcgaatCttcacttgcgctttattgac	6	19	5	11	3	4	1	1	1	3	0	6	2	4	1	0	0	1	2	0	0	3	8			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:67815782C>G	ENST00000216442.7	-	4	829	c.279G>C	c.(277-279)aaG>aaC	p.K93N	ATP6V1D_ENST00000554236.1_Missense_Mutation_p.K93N|ATP6V1D_ENST00000555474.1_Intron|ATP6V1D_ENST00000555431.1_Missense_Mutation_p.K38N	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	93					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		TCGCTCGAATCTTCACTTGCG	0.368													13	26					0	0	0	0	G	67815782	C	G	67815782	3	3	277	1	0	0	0	0	1	0	0	0	1186	912	32	2	488	2	ATP6V1D	14	67815782	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	36002643	67815782	39533758	226	49820											
PLEKHH1	57475	broad.mit.edu	37	chr14	68022580	68022580	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctgctggaggcagagcaGagagcagagaacgctgagac	13	3	17	8	1	0	4	0	1	0	4	0	8	0	5	0	3	4	6	0	3	1	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:68022580G>C	ENST00000329153.5	+	3	297	c.165G>C	c.(163-165)caG>caC	p.Q55H		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	55						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGGCAGAGCAGAGAGCAGAGA	0.607													4	23					0	0	0	0	C	68022580	G	C	68022580	3	2	277	1	0	0	0	0	1	0	0	0	12148	933	33	2	171	2	PLEKHH1	14	68022580	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	206798	68022580	39326960	227	49821											
ATXN3	4287	broad.mit.edu	37	chr14	92549555	92549555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcatctgcaggagttggtCagcttcgcaatctggcagat	10	11	11	9	1	4	1	2	0	2	1	5	2	4	2	0	3	2	5	0	3	2	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:92549555C>T	ENST00000545170.1	-	7	591	c.523G>A	c.(523-525)Gac>Aac	p.D175N	ATXN3_ENST00000429774.2_Missense_Mutation_p.D160N|ATXN3_ENST00000503767.1_Missense_Mutation_p.D160N|ATXN3_ENST00000502250.1_5'UTR|ATXN3_ENST00000532032.1_Missense_Mutation_p.D175N|ATXN3_ENST00000393287.5_Missense_Mutation_p.D175N|ATXN3_ENST00000340660.6_Missense_Mutation_p.D120N|ATXN3_ENST00000554491.1_5'UTR	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	175	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AGGAGTTGGTCAGCTTCGCAA	0.373													42	61					0	0	0	0	T	92549555	C	T	92549555	3	4	277	1	0	0	0	0	1	0	0	0	1217	826	29	2	582	2	ATXN3	14	92549555	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	24526975	92549555	14799985	228	49822											
LGMN	5641	broad.mit.edu	37	chr14	93199105	93199105	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatgcccagggccacactGaggaatacagctactttcca	12	7	8	14	0	0	1	0	1	0	0	1	2	1	2	4	2	4	1	4	2	4	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:93199105G>A	ENST00000393218.2	-	3	364	c.27C>T	c.(25-27)ctC>ctT	p.L9L	LGMN_ENST00000555699.1_Silent_p.L9L|LGMN_ENST00000334869.4_Silent_p.L9L|LGMN_ENST00000557434.1_Silent_p.L9L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	9					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GGGCCACACTGAGGAATACAG	0.478													22	65					0	0	0	0	A	93199105	G	A	93199105	2	1	277	1	0	0	0	0	0	0	0	1	8809	1277	45	2		2	LGMN	14	93199105	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	649550	93199105	14150435	229	49823											
MAGEL2	54551	broad.mit.edu	37	chr15	23890608	23890608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcgcgcagctgacactGccttgggagcacagaaggtg	8	7	15	11	2	0	2	0	1	0	1	1	3	0	3	1	2	4	4	1	2	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:23890608G>T	ENST00000532292.1	-	1	567	c.473C>A	c.(472-474)gCa>gAa	p.A158E		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGCTGACACTGCCTTGGGAGC	0.612													4	40					0.00024832	0.000353687	1	0	T	23890608	G	T	23890608	3	4	277	1	0	0	0	0	1	0	0	0	9258	1319	46	4	1471	4	MAGEL2	15	23890608	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08		23890608	78640784	230	49824											
DISP2	85455	broad.mit.edu	37	chr15	40662125	40662125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagccccagcccactctcCtaaggccaaggctgcagatc	11	5	9	16	0	1	2	0	0	1	2	3	2	1	2	5	2	3	2	5	2	3	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:40662125C>T	ENST00000267889.3	+	8	3899	c.3812C>T	c.(3811-3813)cCt>cTt	p.P1271L		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1271					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCCACTCTCCTAAGGCCAAG	0.647													15	42					0	0	0	0	T	40662125	C	T	40662125	3	4	277	1	0	0	0	0	1	0	0	0	4577	681	24	4	3842	4	DISP2	15	40662125	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	16771517	40662125	61869267	231	49825											
LTK	4058	broad.mit.edu	37	chr15	41804949	41804949	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgccacagctgcacgcctctCagctgcccggcggcccccac	5	4	10	22	4	1	0	1	0	1	0	2	0	1	0	5	2	4	3	5	2	0	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:41804949C>T	ENST00000263800.6	-	3	411	c.315G>A	c.(313-315)ctG>ctA	p.L105L	LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Silent_p.L105L|LTK_ENST00000355166.5_Silent_p.L105L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	105					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCACGCCTCTCAGCTGCCCGG	0.697										TSP Lung(18;0.14)			7	15					0	0	0	0	T	41804949	C	T	41804949	2	4	277	1	0	0	0	0	0	0	0	1	9144	813	29	2		2	LTK	15	41804949	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1142824	41804949	60726443	232	49826											
B2M	567	broad.mit.edu	37	chr15	45007631	45007632	+	Frame_Shift_Ins	INS	-	-	A																															attcctcaggtactccaaagINSattcaggtttactcacgtca																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:45007631_45007632insA	ENST00000558401.1	+	2	148_149	c.78_79insA	c.(76-81)aattcafs	p.NS26fs	B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Frame_Shift_Ins_p.NS26fs|B2M_ENST00000544417.1_Frame_Shift_Ins_p.NS26fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	26	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GTACTCCAAAGATTCAGGTTTA	0.421													35	90	---	---	---	---					A	45007632	-	A	45007631	7	5	277	1	0	1	1	0	0	0	0	0	1248	933	33	0	84	0	B2M	15	45007631	Frame_Shift_Ins	INS	-	TCGA-CV-7099-01A-41D-2012-08	3202682	45007631	57523761	233	49827											
ANKDD1A	348094	broad.mit.edu	37	chr15	65219178	65219178	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctcgtgggctctggctgtGaccacaatgtcaaagacaag	10	9	11	11	1	2	2	1	1	1	1	4	2	3	2	2	2	0	2	2	2	3	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:65219178G>C	ENST00000380230.3	+	6	579	c.550G>C	c.(550-552)Gac>Cac	p.D184H	ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.D184H|ANKDD1A_ENST00000319580.8_3'UTR|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.D184H|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.D93H|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.D93H	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	184					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CTCTGGCTGTGACCACAATGT	0.617													4	81					0	0	0	0	C	65219178	G	C	65219178	3	2	277	1	0	0	0	0	1	0	0	0	624	1290	45	2	572	2	ANKDD1A	15	65219178	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	20211547	65219178	37312214	234	49828											
MTFMT	123263	broad.mit.edu	37	chr15	65319319	65319319	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcactggcagtccttttggtGatggggaaggcattgtgacc	7	12	14	8	0	1	2	1	2	0	0	2	3	2	3	2	5	0	2	2	5	1	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:65319319G>C	ENST00000220058.4	-	2	282	c.269C>G	c.(268-270)tCa>tGa	p.S90*		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	90						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TCCTTTTGGTGATGGGGAAGG	0.443													12	43					0	0	0	0	C	65319319	G	C	65319319	4	2	277	1	0	0	0	0	0	1	0	0	9994	1294	45	2	932	2	MTFMT	15	65319319	Nonsense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	100141	65319319	37212073	235	49829											
GOLGA6A	342096	broad.mit.edu	37	chr15	74372982	74372982	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caggtgagtggcaaccaccgGaagtggttgtctcagggcta	9	8	15	9	1	1	1	1	1	1	0	2	2	1	2	2	5	1	3	2	5	3	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:74372982G>C	ENST00000290438.3	-	2	219	c.179C>G	c.(178-180)tCc>tGc	p.S60C		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	60										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GCAACCACCGGAAGTGGTTGT	0.527													18	136					0	0	0	0	C	74372982	G	C	74372982	3	2	277	1	0	0	0	0	1	0	0	0	6608	1174	41	2	1970	2	GOLGA6A	15	74372982	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	9053663	74372982	28158410	236	49830											
DET1	55070	broad.mit.edu	37	chr15	89070909	89070909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgtgcagggtagcattacGaaaaaggtcacagaagttct	14	9	11	7	1	2	1	1	0	1	1	2	2	2	1	0	2	3	4	0	2	5	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:89070909G>A	ENST00000564406.1	-	4	1385	c.1225C>T	c.(1225-1227)Cgt>Tgt	p.R409C	DET1_ENST00000444300.1_Missense_Mutation_p.R409C|DET1_ENST00000268148.8_Missense_Mutation_p.R398C	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	398						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GTAGCATTACGAAAAAGGTCA	0.463													10	36					0	0	0	0	A	89070909	G	A	89070909	3	1	277	1	0	0	0	0	1	0	0	0	4487	1058	37	1	472	1	DET1	15	89070909	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	14697927	89070909	13460483	237	49831											
WDR90	197335	broad.mit.edu	37	chr16	712044	712044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttcttgtcctgggaggcgGatgacggtggcattggtgag	5	11	18	7	2	1	2	0	2	1	0	2	4	2	4	1	6	0	2	1	6	0	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:712044G>A	ENST00000549091.1	+	32	4110	c.4018G>A	c.(4018-4020)Gat>Aat	p.D1340N	WDR90_ENST00000293879.4_Missense_Mutation_p.D1340N	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1340										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGGGAGGCGGATGACGGTGG	0.652													10	30					0	0	0	0	A	712044	G	A	712044	3	1	277	1	0	0	0	0	1	0	0	0	17433	1174	41	2	4144	2	WDR90	16	712044	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08		712044	89642709	238	49832											
C1QTNF8	390664	broad.mit.edu	37	chr16	1143809	1143809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagcggcccgcggccaGgtcgaaggcgccgtccaggt	7	3	18	13	6	0	0	0	0	0	0	2	3	1	1	4	6	1	0	4	6	2	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:1143809G>A	ENST00000328449.5	-	4	724	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	151	C1q.					collagen				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				CCCGCGGCCAGGTCGAAGGCG	0.667													4	48					0	0	0	0	A	1143809	G	A	1143809	2	1	277	1	0	0	0	0	0	0	0	1	1988	991	35	4		4	C1QTNF8	16	1143809	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	431765	1143809	89210944	239	49833											
CASKIN1	57524	broad.mit.edu	37	chr16	2234836	2234836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctccccatagacctgcccgGcgtgggccactggaggctgg	5	6	15	15	2	0	1	0	0	0	1	1	2	1	2	5	5	1	2	5	5	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:2234836G>A	ENST00000343516.6	-	14	1450	c.1358C>T	c.(1357-1359)gCc>gTc	p.A453V	CASKIN1_ENST00000564289.1_5'UTR	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	453	CASK-binding (By similarity).				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GACCTGCCCGGCGTGGGCCAC	0.687													7	29					0	0	0	0	A	2234836	G	A	2234836	3	1	277	1	0	0	0	0	1	0	0	0	2691	1203	42	4	2965	4	CASKIN1	16	2234836	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1091027	2234836	88119917	240	49834											
UBN1	29855	broad.mit.edu	37	chr16	4924969	4924969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacagcggccaaaggccaggGcttccatccctctgcaccag	9	5	11	16	1	1	0	0	0	1	0	3	1	3	0	5	3	2	2	5	3	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:4924969G>A	ENST00000396658.4	+	14	3261	c.2558G>A	c.(2557-2559)gGc>gAc	p.G853D	UBN1_ENST00000262376.6_Missense_Mutation_p.G853D|UBN1_ENST00000590769.1_Missense_Mutation_p.G853D|UBN1_ENST00000545171.1_Missense_Mutation_p.G853D	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	853					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAAGGCCAGGGCTTCCATCCC	0.592													5	84					0	0	0	0	A	4924969	G	A	4924969	3	1	277	1	0	0	0	0	1	0	0	0	16988	1203	42	4	2612	4	UBN1	16	4924969	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	2690133	4924969	85429784	241	49835											
ERCC4	2072	broad.mit.edu	37	chr16	14015908	14015908	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtattttatcaatcagctGaagatagaaggagttgaaca	16	11	10	4	0	2	4	2	2	0	2	2	6	2	5	0	1	2	3	0	1	7	5	rs61760162		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:14015908G>A	ENST00000311895.7	+	2	237	c.228G>A	c.(226-228)ctG>ctA	p.L76L	ERCC4_ENST00000575156.1_Silent_p.L76L	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	76					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TCAATCAGCTGAAGATAGAAG	0.353			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	17					0	0	0	0	A	14015908	G	A	14015908	2	1	277	1	0	0	0	0	0	0	0	1	5253	1277	45	2		2	ERCC4	16	14015908	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	9090939	14015908	76338845	242	49836											
C16orf45	89927	broad.mit.edu	37	chr16	15661909	15661909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcagaacttggtcgccatCccaggtaaccatttgcaact	10	10	8	13	1	0	1	0	0	0	1	2	1	1	1	3	2	5	3	3	2	3	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:15661909C>T	ENST00000300006.4	+	3	659	c.300C>T	c.(298-300)atC>atT	p.I100I	C16orf45_ENST00000561692.1_Silent_p.I52I|C16orf45_ENST00000452191.2_Silent_p.I83I|C16orf45_ENST00000566490.1_Silent_p.I100I	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	100										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TGGTCGCCATCCCAGGTAACC	0.552													6	14					0	0	0	0	T	15661909	C	T	15661909	2	4	277	1	0	0	0	0	0	0	0	1	1827	845	30	2		2	C16orf45	16	15661909	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1646001	15661909	74692844	243	49837											
CD19	930	broad.mit.edu	37	chr16	28944612	28944612	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtggggtaccccctgactCtgtgtccaggggccccctct	3	10	12	16	0	2	1	0	1	2	0	3	1	3	1	5	4	1	1	5	4	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:28944612C>G	ENST00000538922.1	+	4	679	c.617C>G	c.(616-618)tCt>tGt	p.S206C	CD19_ENST00000324662.3_Missense_Mutation_p.S206C|CD19_ENST00000567541.1_Missense_Mutation_p.S206C	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	206	Ig-like C2-type 2.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCCCCTGACTCTGTGTCCAGG	0.612													14	25					0	0	0	0	G	28944612	C	G	28944612	3	3	277	1	0	0	0	0	1	0	0	0	3002	913	32	2	631	2	CD19	16	28944612	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	13282703	28944612	61410141	244	49838											
ZNF646	9726	broad.mit.edu	37	chr16	31092645	31092645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggaggacaagcggtgacgtCcatggcggctgaggacaagg	10	4	19	8	3	0	2	0	2	0	0	1	5	1	5	1	7	1	1	1	7	2	0	rs80281572	byFrequency	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:31092645C>T	ENST00000394979.2	+	1	5423	c.5000C>T	c.(4999-5001)tCc>tTc	p.S1667F	ZNF646_ENST00000300850.5_Missense_Mutation_p.S1667F			O15015	ZN646_HUMAN	zinc finger protein 646	1667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCGGTGACGTCCATGGCGGCT	0.662													11	50					0	0	0	0	T	31092645	C	T	31092645	3	4	277	1	0	0	0	0	1	0	0	0	18157	855	30	2	5002	2	ZNF646	16	31092645	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2148033	31092645	59262108	245	49839											
NLRC5	84166	broad.mit.edu	37	chr16	57060491	57060491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgttaccctccattccCgctgggtacagcggaccaaa	10	9	9	13	2	0	0	0	0	0	0	2	1	2	1	4	2	3	4	4	2	4	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:57060491C>T	ENST00000436936.1	+	6	1861	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C	NLRC5_ENST00000262510.6_Missense_Mutation_p.R546C|NLRC5_ENST00000539144.1_Missense_Mutation_p.R546C|NLRC5_ENST00000308149.7_Missense_Mutation_p.R546C			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	546					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCTCCATTCCCGCTGGGTACA	0.612													74	84					0	0	0	0	T	57060491	C	T	57060491	3	4	277	1	0	0	0	0	1	0	0	0	10540	652	23	1	1650	1	NLRC5	16	57060491	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	25967846	57060491	33294262	246	49840											
COG4	25839	broad.mit.edu	37	chr16	70515274	70515274	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacctacccgctccagattGaggatggtggccatctggga	8	8	12	13	1	1	2	0	1	1	1	2	4	2	4	5	4	1	1	5	4	1	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:70515274G>C	ENST00000323786.5	-	18	2244	c.2223C>G	c.(2221-2223)ctC>ctG	p.L741L		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	737	E domain; essential for proper cell surface glycosylation.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GCTCCAGATTGAGGATGGTGG	0.592													6	166					0	0	0	0	C	70515274	G	C	70515274	2	2	277	1	0	0	0	0	0	0	0	1	3690	1277	45	2		2	COG4	16	70515274	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	13454783	70515274	19839479	247	49841											
ZFHX3	463	broad.mit.edu	37	chr16	72992559	72992559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcctcatccaactcgcttgGaaagagtcctttgcaaccct	9	12	6	14	1	1	1	1	0	0	1	5	2	4	2	4	1	3	2	4	1	3	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:72992559G>A	ENST00000268489.5	-	2	2158	c.1486C>T	c.(1486-1488)Cca>Tca	p.P496S	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	496					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACTCGCTTGGAAAGAGTCCT	0.577													32	48					0	0	0	0	A	72992559	G	A	72992559	3	1	277	1	0	0	0	0	1	0	0	0	17729	1174	41	2	9661	2	ZFHX3	16	72992559	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	2477285	72992559	17362194	248	49842											
KARS	3735	broad.mit.edu	37	chr16	75665700	75665700	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcaaatcaatcccctcattCcggaactggcgtccaatttc	10	11	6	14	2	3	0	3	0	0	0	7	1	6	1	4	2	1	0	4	2	4	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:75665700C>T	ENST00000319410.5	-	9	1174	c.1053G>A	c.(1051-1053)cgG>cgA	p.R351R	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Silent_p.R323R	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	323					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TCCCCTCATTCCGGAACTGGC	0.463													72	100					0	0	0	0	T	75665700	C	T	75665700	2	4	277	1	0	0	0	0	0	0	0	1	8033	842	30	2		2	KARS	16	75665700	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2673141	75665700	14689053	249	49843											
PLCG2	5336	broad.mit.edu	37	chr16	81968079	81968079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaccagtccatcgccatcGagctctctgacctggttgtc	8	10	9	14	2	1	2	0	1	1	1	6	3	2	2	4	1	2	2	4	1	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:81968079G>A	ENST00000359376.3	+	26	2999	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	929					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CATCGCCATCGAGCTCTCTGA	0.478													18	30					0	0	0	0	A	81968079	G	A	81968079	3	1	277	1	0	0	0	0	1	0	0	0	12108	1059	37	1	2883	1	PLCG2	16	81968079	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	6302379	81968079	8386674	250	49844											
PRPF8	10594	broad.mit.edu	37	chr17	1582167	1582167	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcattcccaaaacgagatttCtttctttcctggagaagatg	11	13	8	9	1	2	3	0	0	2	3	4	5	4	3	2	1	1	1	2	1	3	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:1582167C>G	ENST00000572621.1	-	11	1873	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N	PRPF8_ENST00000304992.6_Missense_Mutation_p.K536N			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	536						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AACGAGATTTCTTTCTTTCCT	0.468													6	43					0	0	0	0	G	1582167	C	G	1582167	3	3	277	1	0	0	0	0	1	0	0	0	12655	912	32	2	5527	2	PRPF8	17	1582167	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08		1582167	79613043	251	49845											
PRPF8	10594	broad.mit.edu	37	chr17	1582626	1582626	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccgatgcttcagggcattCagcacatagtacttaagcag	11	9	11	10	1	2	0	2	0	0	0	2	1	2	0	1	2	4	5	1	2	3	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:1582626C>G	ENST00000572621.1	-	9	1633	c.1368G>C	c.(1366-1368)ctG>ctC	p.L456L	PRPF8_ENST00000304992.6_Silent_p.L456L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	456						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCAGGGCATTCAGCACATAGT	0.542													8	66					0	0	0	0	G	1582626	C	G	1582626	2	3	277	1	0	0	0	0	0	0	0	1	12655	813	29	2		2	PRPF8	17	1582626	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	459	1582626	79612584	252	49846											
TP53	7157	broad.mit.edu	37	chr17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgcggagattctcttcctCtgtgcgccggtctctcccag	3	13	10	15	3	3	1	0	0	3	1	7	2	5	1	3	2	2	0	3	2	0	3	rs112431538		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTCTTCCTCTGTGCGCCGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	23					0	0	0	0	T	7577085	C	T	7577085	3	4	277	1	0	0	0	0	1	0	0	0	16476	922	32	2	433	2	TP53	17	7577085	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	5994459	7577085	73618125	253	49847											
MYH10	4628	broad.mit.edu	37	chr17	8422110	8422110	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaattctaaagcccggatCtaagagagaaagagtttatt	15	11	8	7	1	2	3	0	0	2	3	3	5	3	4	2	1	1	1	2	1	6	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:8422110C>G	ENST00000360416.3	-	21	2482		c.e21-1		MYH10_ENST00000396239.1_Splice_Site|MYH10_ENST00000379980.4_Splice_Site|MYH10_ENST00000269243.4_Splice_Site	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle						actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AAGCCCGGATCTAAGAGAGAA	0.353													3	46					0	0	0	0	G	8422110	C	G	8422110	5	3	277	1	0	0	0	0	0	0	1	0	10100	927	32	2	3772	2	MYH10	17	8422110	Splice_Site	SNP	C	TCGA-CV-7099-01A-41D-2012-08	845025	8422110	72773100	254	49848											
MYH2	4620	broad.mit.edu	37	chr17	10442663	10442663	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggccagagcacctactgcGttggacaccttaaaagacaa	13	8	9	11	1	0	2	0	0	0	2	0	3	0	3	3	2	3	2	3	2	4	4	rs151000841	by1000genomes	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:10442663G>A	ENST00000245503.5	-	14	1659	c.1275C>T	c.(1273-1275)aaC>aaT	p.N425N	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.N425N|MYH2_ENST00000532183.1_Silent_p.N425N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	425	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CACCTACTGCGTTGGACACCT	0.468													18	118					0	0	0	0	A	10442663	G	A	10442663	2	1	277	1	0	0	0	0	0	0	0	1	10105	1136	40	1		1	MYH2	17	10442663	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	2020553	10442663	70752547	255	49849											
ATPAF2	91647	broad.mit.edu	37	chr17	17942267	17942267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catagaagcgctggggccacCcgccggccgattcaggagac	9	4	14	14	4	1	2	1	0	0	2	1	4	1	2	4	4	1	1	4	4	2	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:17942267C>T	ENST00000474627.3	-	1	215	c.61G>A	c.(61-63)Ggt>Agt	p.G21S	ATPAF2_ENST00000585101.1_Missense_Mutation_p.G21S	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	21					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CTGGGGCCACCCGCCGGCCGA	0.667													12	7					0	0	0	0	T	17942267	C	T	17942267	3	4	277	1	0	0	0	0	1	0	0	0	1205	623	22	4	840	4	ATPAF2	17	17942267	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	7499604	17942267	63252943	256	49850											
MYO15A	51168	broad.mit.edu	37	chr17	18039062	18039062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctcagtggtgagtgcccGagagatccaggccgtggcag	7	6	17	11	2	1	2	1	1	0	1	2	4	2	2	4	4	1	1	4	4	0	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:18039062G>A	ENST00000205890.5	+	13	4858	c.4520G>A	c.(4519-4521)cGa>cAa	p.R1507Q		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1507	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTGAGTGCCCGAGAGATCCAG	0.522													7	24					0	0	0	0	A	18039062	G	A	18039062	3	1	277	1	0	0	0	0	1	0	0	0	10133	1058	37	1	4562	1	MYO15A	17	18039062	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	96795	18039062	63156148	257	49851											
CRYBA1	1411	broad.mit.edu	37	chr17	27581304	27581307	+	Frame_Shift_Del	DEL	GAGA	GAGA	-																															ggaggagactataaacattgGagagagtggggctctcatgc																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:27581304_27581307delGAGA	ENST00000225387.3	+	6	586_589	c.585_588delGAGA	c.(583-588)tgfs	p.WR195fs		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	195	Beta/gamma crystallin 'Greek key' 4.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATAAACATTGGAGAGAGTGGGGCT	0.441													26	80	---	---	---	---					-	27581307	GAGA	-	27581304	7	5	277	1	0	1	0	1	0	0	0	0	3937	1183	41	0	607	0	CRYBA1	17	27581304	Frame_Shift_Del	DEL	GAGA	TCGA-CV-7099-01A-41D-2012-08	9542242	27581304	53613906	258	49852											
TTC25	83538	broad.mit.edu	37	chr17	40087031	40087031	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttccctcttatatggccGaaggcgagcggctctacctg	6	11	10	14	3	2	0	0	0	2	0	3	2	3	0	4	3	2	1	4	3	4	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:40087031G>A	ENST00000591658.1	+	0	123							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding	p.E19K(2)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TTATATGGCCGAAGGCGAGCG	0.542													5	8					0	0	0	0	A	40087031	G	A	40087031	1	1	277	0	1	0	0	0	0	0	0	0	16789	1059	37	1		1	TTC25	17	40087031	RNA	SNP	G	TCGA-CV-7099-01A-41D-2012-08	12505727	40087031	41108179	259	49853											
BRCA1	672	broad.mit.edu	37	chr17	41246860	41246860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtatttgttacatccgtctCagaaaattcacaagcagctg	13	12	7	9	1	2	1	2	0	1	1	4	1	3	1	1	0	3	4	1	0	5	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:41246860C>G	ENST00000357654.3	-	10	806	c.688G>C	c.(688-690)Gag>Cag	p.E230Q	BRCA1_ENST00000468300.1_Missense_Mutation_p.E230Q|BRCA1_ENST00000471181.2_Missense_Mutation_p.E230Q|BRCA1_ENST00000354071.3_Missense_Mutation_p.E230Q|BRCA1_ENST00000493795.1_Missense_Mutation_p.E183Q|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E230Q|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.E230Q|BRCA1_ENST00000591534.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	230					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACATCCGTCTCAGAAAATTCA	0.368			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			9	15					0	0	0	0	G	41246860	C	G	41246860	3	3	277	1	0	0	0	0	1	0	0	0	1506	835	29	2	5029	2	BRCA1	17	41246860	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1159829	41246860	39948350	260	49854											
SP6	80320	broad.mit.edu	37	chr17	45924944	45924944	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaagagccagttgcacacGaagggacggtcgccgctgtg	10	5	15	11	4	0	2	0	0	0	2	1	4	0	3	2	2	2	3	2	2	2	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:45924944G>A	ENST00000536300.1	-	2	1183	c.852C>T	c.(850-852)ttC>ttT	p.F284F	SP6_ENST00000342234.2_Silent_p.F284F	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						AGTTGCACACGAAGGGACGGT	0.652													14	35					0	0	0	0	A	45924944	G	A	45924944	2	1	277	1	0	0	0	0	0	0	0	1	15056	1049	37	1		1	SP6	17	45924944	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	4678084	45924944	35270266	261	49855											
HOXB5	3215	broad.mit.edu	37	chr17	46670537	46670537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatttgcggagtctgcccctCgggcgcggctgtggaggtgg	3	10	18	10	4	1	0	0	0	1	0	2	2	1	2	2	6	2	1	2	6	1	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:46670537C>T	ENST00000239151.5	-	1	786	c.508G>A	c.(508-510)Gag>Aag	p.E170K	HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB3_ENST00000552000.2_Intron	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	170						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GTCTGCCCCTCGGGCGCGGCT	0.607													16	45					0	0	0	0	T	46670537	C	T	46670537	3	4	277	1	0	0	0	0	1	0	0	0	7354	893	31	1	309	1	HOXB5	17	46670537	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	745593	46670537	34524673	262	49856											
EPN3	55040	broad.mit.edu	37	chr17	48615544	48615544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggccctcgccatgagccgtGaggaggcagagaaggtgagg	9	5	18	9	2	0	4	0	3	0	1	1	6	0	5	3	5	1	1	3	5	1	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:48615544G>A	ENST00000268933.3	+	3	1246	c.667G>A	c.(667-669)Gag>Aag	p.E223K	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000541226.1_Missense_Mutation_p.E167K|EPN3_ENST00000537145.1_Missense_Mutation_p.E278K	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	223						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CATGAGCCGTGAGGAGGCAGA	0.667													7	24					0	0	0	0	A	48615544	G	A	48615544	3	1	277	1	0	0	0	0	1	0	0	0	5225	1291	45	2	673	2	EPN3	17	48615544	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1945007	48615544	32579666	263	49857											
HELZ	9931	broad.mit.edu	37	chr17	65105306	65105306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgtgaaggaagaatggggCcgggttgtgcaatggctctc	9	9	17	6	1	1	2	0	1	1	1	2	4	1	3	1	5	1	3	1	5	4	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:65105306C>T	ENST00000358691.5	-	29	4581	c.4415G>A	c.(4414-4416)gGc>gAc	p.G1472D	HELZ_ENST00000580168.1_Missense_Mutation_p.G1473D	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AAGAATGGGGCCGGGTTGTGC	0.532													5	69					0	0	0	0	T	65105306	C	T	65105306	3	4	277	1	0	0	0	0	1	0	0	0	7099	739	26	4	1433	4	HELZ	17	65105306	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	16489762	65105306	16089904	264	49858											
BTBD17	388419	broad.mit.edu	37	chr17	72353305	72353305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagttgcggggcaggaaggCgctgccgttgacgtcgaaga	8	7	18	8	5	0	2	0	1	0	1	1	4	0	3	1	4	2	5	1	4	3	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:72353305C>T	ENST00000375366.3	-	3	1054	c.928G>A	c.(928-930)Gcc>Acc	p.A310T		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	310						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						GGCAGGAAGGCGCTGCCGTTG	0.716													5	11					0	0	0	0	T	72353305	C	T	72353305	3	4	277	1	0	0	0	0	1	0	0	0	1550	768	27	1	512	1	BTBD17	17	72353305	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	7247999	72353305	8841905	265	49859											
RAB37	326624	broad.mit.edu	37	chr17	72741479	72741479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccgggcatcaggcggatGagcccagcttccagatccga	8	5	15	13	3	1	2	1	1	0	1	3	4	3	3	4	4	2	2	4	4	0	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:72741479G>A	ENST00000392614.4	+	9	709	c.616G>A	c.(616-618)Gag>Aag	p.E206K	RAB37_ENST00000528438.1_Missense_Mutation_p.E174K|RAB37_ENST00000392613.5_Missense_Mutation_p.E201K|RAB37_ENST00000392610.1_3'UTR|RAB37_ENST00000340415.3_3'UTR|RAB37_ENST00000392612.3_Missense_Mutation_p.E164K|RAB37_ENST00000392615.5_Missense_Mutation_p.E169K|RAB37_ENST00000402449.4_Missense_Mutation_p.E194K	NM_001163989.1	NP_001157461.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	201					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						TCAGGCGGATGAGCCCAGCTT	0.622											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	49					0	0	0	0	A	72741479	G	A	72741479	3	1	277	1	0	0	0	0	1	0	0	0	13009	1291	45	2	938	2	RAB37	17	72741479	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	388174	72741479	8453731	266	49860											
FOXJ1	2302	broad.mit.edu	37	chr17	74136166	74136166	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcggggggtggggcctgcAgccccgggggcgcgctccgc	1	4	21	15	6	0	0	0	0	0	0	2	0	1	0	4	7	2	2	4	7	0	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:74136166A>C	ENST00000322957.6	-	2	665	c.311T>G	c.(310-312)cTg>cGg	p.L104R		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	104					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGGGCCTGCAGCCCCGGGGG	0.736													4	24					0	0	0	0	C	74136166	A	C	74136166	3	2	277	1	0	0	0	0	1	0	0	0	6058	188	7	5	962	5	FOXJ1	17	74136166	Missense_Mutation	SNP	A	TCGA-CV-7099-01A-41D-2012-08	1394687	74136166	7059044	267	49861											
C1QTNF1	114897	broad.mit.edu	37	chr17	77043984	77043984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacgaggaggaggtggtgatCttgttcgcgcaggtgggcga	8	8	19	6	4	1	1	0	1	1	0	2	5	1	3	0	6	1	2	0	6	1	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:77043984C>G	ENST00000339142.2	+	5	1215	c.660C>G	c.(658-660)atC>atG	p.I220M	C1QTNF1_ENST00000578229.1_Missense_Mutation_p.I138M|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.I220M|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.I230M|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.I138M|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.I220M|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.I220M|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.I220M|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.I220M|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.I220M	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	220	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGGTGGTGATCTTGTTCGCGC	0.597													29	54					0	0	0	0	G	77043984	C	G	77043984	3	3	277	1	0	0	0	0	1	0	0	0	1981	903	32	2	670	2	C1QTNF1	17	77043984	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2907818	77043984	4151226	268	49862											
RNF213	57674	broad.mit.edu	37	chr17	78265449	78265449	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttgggtcatgaccgcgttCttgttgaaggcattgtctgc	6	14	12	9	2	3	2	1	2	2	0	3	2	3	2	1	2	1	3	1	2	1	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:78265449C>G	ENST00000582970.1	+	8	1437	c.1294C>G	c.(1294-1296)Ctt>Gtt	p.L432V	RNF213_ENST00000319921.4_Missense_Mutation_p.L432V|RNF213_ENST00000456466.1_Missense_Mutation_p.L432V|RNF213_ENST00000508628.2_Missense_Mutation_p.L481V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	432										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGACCGCGTTCTTGTTGAAGG	0.398													5	94					0	0	0	0	G	78265449	C	G	78265449	3	3	277	1	0	0	0	0	1	0	0	0	13562	913	32	2	1471	2	RNF213	17	78265449	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1221465	78265449	2929761	269	49863											
COLEC12	81035	broad.mit.edu	37	chr18	346549	346549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagattgctggtcagcgtcCgcaggtggtgggctgtgtaa	6	12	16	7	2	1	1	1	0	0	1	2	1	2	1	1	4	2	4	1	4	2	3	rs140999458		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:346549C>T	ENST00000400256.3	-	5	1280	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	358					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGTCAGCGTCCGCAGGTGGTG	0.473													18	46					0	0	0	0	T	346549	C	T	346549	3	4	277	1	0	0	0	0	1	0	0	0	3742	652	23	1	1179	1	COLEC12	18	346549	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08		346549	77730699	270	49864											
LAMA3	3909	broad.mit.edu	37	chr18	21293932	21293932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagaccccaggaaagcacatCctgtcaccaatgccatcgat	14	6	7	14	1	1	1	1	0	0	1	3	3	2	2	5	1	2	1	5	1	3	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:21293932C>G	ENST00000313654.9	+	2	584	c.343C>G	c.(343-345)Cct>Gct	p.P115A	LAMA3_ENST00000399516.3_Missense_Mutation_p.P115A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	115	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAAGCACATCCTGTCACCAA	0.438													10	26					0	0	0	0	G	21293932	C	G	21293932	3	3	277	1	0	0	0	0	1	0	0	0	8660	855	30	2	349	2	LAMA3	18	21293932	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	20947383	21293932	56783316	271	49865											
DCC	1630	broad.mit.edu	37	chr18	50278591	50278591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctggccttgggaatggatGaaaggaagcagcaactttca	13	9	12	7	0	2	1	1	1	1	0	2	4	2	4	1	4	3	2	1	4	4	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:50278591G>A	ENST00000442544.2	+	2	875	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	87	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGGAATGGATGAAAGGAAGCA	0.498													25	58					0	0	0	0	A	50278591	G	A	50278591	3	1	277	1	0	0	0	0	1	0	0	0	4314	1291	45	2	265	2	DCC	18	50278591	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	28984659	50278591	27798657	272	49866											
WDR7	23335	broad.mit.edu	37	chr18	54483274	54483274	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttttagctggagtcacatCagaagccgcgcagactatca	11	10	10	10	2	3	2	3	0	0	2	3	3	3	3	1	1	2	3	1	1	3	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:54483274C>G	ENST00000254442.3	+	20	3414	c.3203C>G	c.(3202-3204)tCa>tGa	p.S1068*	WDR7_ENST00000357574.3_Nonsense_Mutation_p.S1035*|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1068										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGAGTCACATCAGAAGCCGCG	0.418													12	21					0	0	0	0	G	54483274	C	G	54483274	4	3	277	1	0	0	0	0	0	1	0	0	17416	838	29	2	3277	2	WDR7	18	54483274	Nonsense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	4204683	54483274	23593974	273	49867											
NFATC1	4772	broad.mit.edu	37	chr18	77193713	77193713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggggggccgtgaaggcgtCggccggaggacaccccatcg	6	3	18	14	6	0	1	0	1	0	0	2	3	0	3	5	7	0	0	5	7	1	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:77193713C>T	ENST00000253506.5	+	3	1730	c.1361C>T	c.(1360-1362)tCg>tTg	p.S454L	NFATC1_ENST00000592223.1_Missense_Mutation_p.S441L|NFATC1_ENST00000591814.1_Missense_Mutation_p.S454L|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000427363.2_Missense_Mutation_p.S454L|NFATC1_ENST00000587635.1_Missense_Mutation_p.S454L|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000542384.1_Missense_Mutation_p.S454L|NFATC1_ENST00000586434.1_Missense_Mutation_p.S441L|NFATC1_ENST00000329101.4_Missense_Mutation_p.S441L|NFATC1_ENST00000318065.5_Missense_Mutation_p.S441L	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	454	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GTGAAGGCGTCGGCCGGAGGA	0.622													29	72					0	0	0	0	T	77193713	C	T	77193713	3	4	277	1	0	0	0	0	1	0	0	0	10431	893	31	1	1463	1	NFATC1	18	77193713	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	22710439	77193713	883535	274	49868											
S1PR4	8698	broad.mit.edu	37	chr19	3179318	3179318	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctgctggccgcgctgctGgggatgctgcctttgctggg	1	11	18	11	2	0	0	0	0	0	0	0	1	0	1	2	5	5	6	2	5	0	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:3179318G>A	ENST00000246115.3	+	1	583	c.528G>A	c.(526-528)ctG>ctA	p.L176L	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	176					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CCGCGCTGCTGGGGATGCTGC	0.667													12	134					0	0	0	0	A	3179318	G	A	3179318	2	1	277	1	0	0	0	0	0	0	0	1	13881	1335	47	4		4	S1PR4	19	3179318	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08		3179318	55949665	275	49869											
C3	718	broad.mit.edu	37	chr19	6684804	6684804	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accgacaaggtgccttggccTtttccttcagctgtgactgt	6	13	10	12	1	1	1	1	1	0	0	2	2	2	1	4	2	2	1	4	2	1	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:6684804T>C	ENST00000245907.6	-	31	4103	c.4011A>G	c.(4009-4011)aaA>aaG	p.K1337K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1337					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGCCTTGGCCTTTTCCTTCAG	0.537													3	137					0	0	0	0	C	6684804	T	C	6684804	2	2	277	1	0	0	0	0	0	0	0	1	2224	1606	56	5		5	C3	19	6684804	Silent	SNP	T	TCGA-CV-7099-01A-41D-2012-08	3505486	6684804	52444179	276	49870											
EMR1	2015	broad.mit.edu	37	chr19	6916361	6916361	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcgggtgttccacaattGaggaatctgaatccacaggt	12	10	11	8	1	1	3	0	2	1	1	4	4	3	4	2	3	0	1	2	3	3	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:6916361G>C	ENST00000312053.4	+	12	1439	c.1402G>C	c.(1402-1404)Gag>Cag	p.E468Q	EMR1_ENST00000381407.5_Missense_Mutation_p.E327Q|EMR1_ENST00000250572.8_Missense_Mutation_p.E468Q|EMR1_ENST00000381404.4_Missense_Mutation_p.E416Q|EMR1_ENST00000450315.3_Missense_Mutation_p.E291Q	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	468	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTCCACAATTGAGGAATCTGA	0.438													38	81					0	0	0	0	C	6916361	G	C	6916361	3	2	277	1	0	0	0	0	1	0	0	0	5142	1291	45	2	1448	2	EMR1	19	6916361	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	231557	6916361	52212622	277	49871											
MCOLN1	57192	broad.mit.edu	37	chr19	7593497	7593497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggagacaacagcttcCggctcctgtttgacgtggtg	7	9	13	12	3	0	2	0	1	0	1	2	3	2	2	3	3	2	4	3	3	1	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:7593497C>T	ENST00000264079.6	+	8	1017	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	298					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAACAGCTTCCGGCTCCTGTT	0.632													10	30					0	0	0	0	T	7593497	C	T	7593497	3	4	277	1	0	0	0	0	1	0	0	0	9464	643	23	1	922	1	MCOLN1	19	7593497	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	677136	7593497	51535486	278	49872											
NOTCH3	4854	broad.mit.edu	37	chr19	15291045	15291045	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacactgcccacccgcctgAcacagctgctccagccgcac	9	4	7	21	2	0	1	0	1	0	0	1	1	1	1	5	0	4	3	5	0	0	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:15291045A>G	ENST00000263388.2	-	20	3240	c.3165T>C	c.(3163-3165)tgT>tgC	p.C1055C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1055	EGF-like 27.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACCCGCCTGACACAGCTGCT	0.597													3	44					0	0	0	0	G	15291045	A	G	15291045	2	3	277	1	0	0	0	0	0	0	0	1	10620	273	10	5		5	NOTCH3	19	15291045	Silent	SNP	A	TCGA-CV-7099-01A-41D-2012-08	7697548	15291045	43837938	279	49873											
DDA1	79016	broad.mit.edu	37	chr19	17430407	17430407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggagctggaaggcgagagctCcgcacctccccgcaaggtgg	8	4	16	13	3	0	1	0	0	0	1	2	4	2	3	4	5	2	4	4	5	2	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:17430407C>G	ENST00000359866.4	+	5	375	c.251C>G	c.(250-252)tCc>tGc	p.S84C		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	84										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						GGCGAGAGCTCCGCACCTCCC	0.602													3	9					0	0	0	0	G	17430407	C	G	17430407	3	3	277	1	0	0	0	0	1	0	0	0	4352	855	30	2	269	2	DDA1	19	17430407	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2139362	17430407	41698576	280	49874											
SLC27A1	376497	broad.mit.edu	37	chr19	17615340	17615340	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acctcagaccggctcttcttCctggacctgaagcagggcca	8	8	10	15	1	3	2	1	1	2	1	4	3	4	3	5	3	1	2	5	3	1	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:17615340C>T	ENST00000252595.7	+	12	1957	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000442725.1_Silent_p.F620F|SLC27A1_ENST00000598424.1_Silent_p.F441F	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	620					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGCTCTTCTTCCTGGACCTGA	0.597													24	65					0	0	0	0	T	17615340	C	T	17615340	2	4	277	1	0	0	0	0	0	0	0	1	14613	854	30	2		2	SLC27A1	19	17615340	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	184933	17615340	41513643	281	49875											
PDE4C	5143	broad.mit.edu	37	chr19	18324232	18324232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaccgaggcttgtcaccttCttggtctccaccatggtctt	6	13	8	14	1	4	0	1	0	3	0	5	1	4	0	4	3	0	1	4	3	0	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:18324232C>G	ENST00000355502.3	-	17	2425	c.1554G>C	c.(1552-1554)aaG>aaC	p.K518N	PDE4C_ENST00000447275.2_Missense_Mutation_p.K412N|PDE4C_ENST00000594617.2_Missense_Mutation_p.K518N|PDE4C_ENST00000594465.2_Missense_Mutation_p.K518N|PDE4C_ENST00000539010.1_Missense_Mutation_p.K287N|PDE4C_ENST00000262805.11_Missense_Mutation_p.K486N|AC068499.10_ENST00000594805.2_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	518					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TTGTCACCTTCTTGGTCTCCA	0.562													15	19					0	0	0	0	G	18324232	C	G	18324232	3	3	277	1	0	0	0	0	1	0	0	0	11712	912	32	2	596	2	PDE4C	19	18324232	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	708892	18324232	40804751	282	49876											
LSR	51599	broad.mit.edu	37	chr19	35739867	35739867	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggccttggtgcgcgcCgcgccccctaaggtactttg	3	10	12	16	4	0	0	0	0	0	0	1	0	1	0	5	3	2	1	5	3	2	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:35739867C>G	ENST00000602122.1	+	1	573	c.86C>G	c.(85-87)cCg>cGg	p.P29R	LSR_ENST00000597933.1_Intron|LSR_ENST00000361790.3_Missense_Mutation_p.P29R|LSR_ENST00000360798.3_Missense_Mutation_p.P29R|LSR_ENST00000354900.3_Missense_Mutation_p.P29R|LSR_ENST00000347609.4_Missense_Mutation_p.P29R			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	29					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGGTGCGCGCCGCGCCCCCTA	0.662													4	27					0	0	0	0	G	35739867	C	G	35739867	3	3	277	1	0	0	0	0	1	0	0	0	9128	652	23	3	88	3	LSR	19	35739867	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	17415635	35739867	23389116	283	49877											
KIRREL2	84063	broad.mit.edu	37	chr19	36352524	36352524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtgtctggttttcgcctCtcccgccccagatgccgtgg	3	11	11	16	3	2	1	0	0	2	1	4	1	2	1	6	2	1	1	6	2	0	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:36352524C>T	ENST00000360202.5	+	10	1469	c.1271C>T	c.(1270-1272)tCt>tTt	p.S424F	KIRREL2_ENST00000262625.7_Missense_Mutation_p.S424F|KIRREL2_ENST00000347900.6_Missense_Mutation_p.S374F|KIRREL2_ENST00000586102.2_Missense_Mutation_p.S404F|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S424F	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	424	Ig-like C2-type 5.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTTTTCGCCTCTCCCGCCCCA	0.642													38	104					0	0	0	0	T	36352524	C	T	36352524	3	4	277	1	0	0	0	0	1	0	0	0	8377	913	32	2	1309	2	KIRREL2	19	36352524	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	612657	36352524	22776459	284	49878											
ZFP14	57677	broad.mit.edu	37	chr19	36853091	36853091	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggatccaggaattccCattcttcctgtgagaagtct	10	11	10	10	0	2	1	0	1	2	1	5	5	5	3	3	2	1	1	3	2	2	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:36853091C>T	ENST00000270001.7	-	3	174	c.59G>A	c.(58-60)tGg>tAg	p.W20*	ZFP14_ENST00000589280.1_Nonsense_Mutation_p.W20*	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CAGGAATTCCCATTCTTCCTG	0.378													5	49					0	0	0	0	T	36853091	C	T	36853091	4	4	277	1	0	0	0	0	0	1	0	0	17734	595	21	4	1554	4	ZFP14	19	36853091	Nonsense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	500567	36853091	22275892	285	49879											
ZNF540	163255	broad.mit.edu	37	chr19	38103198	38103198	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaaagcttttagtgtatgCggacaacttacccgtcatca	11	11	10	9	2	2	0	2	0	0	0	2	2	2	2	1	2	4	2	1	2	5	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:38103198C>T	ENST00000592533.1	+	5	1349	c.1017C>T	c.(1015-1017)tgC>tgT	p.C339C	ZNF540_ENST00000589117.1_Silent_p.C307C|ZNF540_ENST00000316433.4_Silent_p.C339C|ZNF540_ENST00000343599.5_Silent_p.C339C	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAGTGTATGCGGACAACTTA	0.353													5	58					0	0	0	0	T	38103198	C	T	38103198	2	4	277	1	0	0	0	0	0	0	0	1	18070	776	27	1		1	ZNF540	19	38103198	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1250107	38103198	21025785	286	49880											
RYR1	6261	broad.mit.edu	37	chr19	39017636	39017636	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctctgtctccccagaaaGacacagatgaggaggtccgg	10	7	13	11	1	2	4	0	1	2	3	4	5	3	5	3	4	0	1	3	4	1	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:39017636G>C	ENST00000355481.4	+	71	10746	c.10615G>C	c.(10615-10617)Gac>Cac	p.D3539H	AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000359596.3_Missense_Mutation_p.D3544H|RYR1_ENST00000360985.3_Missense_Mutation_p.D3544H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3544			R -> H (in CCD; autosomal recessive form).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCCCAGAAAGACACAGATGA	0.542													10	43					0	0	0	0	C	39017636	G	C	39017636	3	2	277	1	0	0	0	0	1	0	0	0	13853	942	33	2	10916	2	RYR1	19	39017636	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	914438	39017636	20111347	287	49881											
NFKBIB	4793	broad.mit.edu	37	chr19	39398347	39398347	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagctggggggtcaggataGaccggcaggcaagaagccca	11	3	16	11	1	1	2	1	0	0	2	1	3	1	3	3	6	2	3	3	6	3	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:39398347G>C	ENST00000392079.3	+	5	1019	c.921G>C	c.(919-921)taG>taC	p.*307Y	NFKBIB_ENST00000572515.1_Nonstop_Mutation_p.*339Y|NFKBIB_ENST00000313582.5_Intron			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	0					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGTCAGGATAGACCGGCAGGC	0.617													4	8					0	0	0	0	C	39398347	G	C	39398347	4	2	277	1	0	0	0	0	0	0	0	0	10448	937	33	2	1035	2	NFKBIB	19	39398347	Nonstop_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	380711	39398347	19730636	288	49882											
CYP2A13	1553	broad.mit.edu	37	chr19	41596383	41596383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccattgtctttggggacCgctttgactatgaggacaaa	9	12	11	9	1	1	2	0	2	1	0	2	4	2	4	2	3	0	2	2	3	2	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:41596383C>T	ENST00000330436.3	+	4	568	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	190					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CTTTGGGGACCGCTTTGACTA	0.567													30	74					0	0	0	0	T	41596383	C	T	41596383	3	4	277	1	0	0	0	0	1	0	0	0	4193	652	23	1	582	1	CYP2A13	19	41596383	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2198036	41596383	17532600	289	49883											
ATP1A3	478	broad.mit.edu	37	chr19	42485787	42485787	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcatccccagccacatccCtctgcaaggagaaagggttg	11	6	10	14	1	1	1	0	0	1	1	3	2	3	1	4	2	2	3	4	2	2	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:42485787C>T	ENST00000545399.1	-	11	1496	c.1341_splice	c.e11-1	p.R448_splice	ATP1A3_ENST00000602133.1_Splice_Site_p.R405_splice|ATP1A3_ENST00000543770.1_Splice_Site_p.R446_splice|ATP1A3_ENST00000302102.5_Splice_Site_p.R435_splice	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	435					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCCACATCCCTCTGCAAGGA	0.592													5	32					0	0	0	0	T	42485787	C	T	42485787	5	4	277	1	0	0	0	0	0	0	1	0	1134	695	24	4	1789	4	ATP1A3	19	42485787	Splice_Site	SNP	C	TCGA-CV-7099-01A-41D-2012-08	889404	42485787	16643196	290	49884											
CIC	23152	broad.mit.edu	37	chr19	42794752	42794752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtgggtggcctggagcCaccaggcccctcagtcatcg	7	7	14	13	1	2	0	2	0	0	0	3	1	2	1	5	4	1	0	5	4	1	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:42794752C>T	ENST00000572681.2	+	11	4627	c.4559C>T	c.(4558-4560)cCa>cTa	p.P1520L	CIC_ENST00000160740.3_Missense_Mutation_p.P611L|CIC_ENST00000575354.2_Missense_Mutation_p.P611L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGCCTGGAGCCACCAGGCCCC	0.657			"Mis, F, S"		oligodendroglioma								8	103					0	0	0	0	T	42794752	C	T	42794752	3	4	277	1	0	0	0	0	1	0	0	0	3453	594	21	4	1870	4	CIC	19	42794752	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	308965	42794752	16334231	291	49885											
ZNF155	7711	broad.mit.edu	37	chr19	44500612	44500612	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagagtccacgtgggagaGaaactctttatgtgtgatgt	11	11	13	6	1	1	3	0	1	1	2	2	6	2	4	1	1	1	0	1	1	2	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:44500612G>C	ENST00000270014.2	+	5	731	c.603G>C	c.(601-603)gaG>gaC	p.E201D	ZNF155_ENST00000407951.2_Missense_Mutation_p.E212D|ZNF155_ENST00000590615.1_Missense_Mutation_p.E201D	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	201						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				ACGTGGGAGAGAAACTCTTTA	0.413													35	135					0	0	0	0	C	44500612	G	C	44500612	3	2	277	1	0	0	0	0	1	0	0	0	17831	933	33	2	617	2	ZNF155	19	44500612	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1705860	44500612	14628371	292	49886											
CD3EAP	10849	broad.mit.edu	37	chr19	45910389	45910389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtccccccaactttaccgcGaagcccccagcctcagagtc	8	7	7	19	2	1	1	1	0	0	1	3	2	2	1	7	0	4	0	7	0	3	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:45910389G>A	ENST00000309424.3	+	2	548	c.60G>A	c.(58-60)gcG>gcA	p.A20A	CD3EAP_ENST00000589804.1_Silent_p.A22A	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	20					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		ACTTTACCGCGAAGCCCCCAG	0.612													30	76					0	0	0	0	A	45910389	G	A	45910389	2	1	277	1	0	0	0	0	0	0	0	1	3041	1045	37	1		1	CD3EAP	19	45910389	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1409777	45910389	13218594	293	49887											
PRRG2	5639	broad.mit.edu	37	chr19	50087180	50087180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcaaggagcgcttttGggagagctacatctacaatg	10	9	10	12	1	2	1	1	0	1	1	2	3	2	2	2	2	4	2	2	2	4	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:50087180G>T	ENST00000246794.5	+	4	441	c.272G>T	c.(271-273)tGg>tTg	p.W91L	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	91	Gla.					extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		GAGCGCTTTTGGGAGAGCTAC	0.527													6	82					0.00198382	0.00280471	1	0	T	50087180	G	T	50087180	3	4	277	1	0	0	0	0	1	0	0	0	12685	1357	47	4	282	4	PRRG2	19	50087180	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	4176791	50087180	9041803	294	49888											
ZNF836	162962	broad.mit.edu	37	chr19	52659522	52659522	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttgccacattcattgcAtttgtaaggtttctctccag	8	15	7	11	0	2	0	1	0	1	0	4	1	3	0	3	1	2	3	3	1	1	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:52659522A>G	ENST00000322146.8	-	5	1935	c.1414T>C	c.(1414-1416)Tgc>Cgc	p.C472R	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.C472R	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CATTCATTGCATTTGTAAGGT	0.418													11	131					0	0	0	0	G	52659522	A	G	52659522	3	3	277	1	0	0	0	0	1	0	0	0	18280	217	8	5	1398	5	ZNF836	19	52659522	Missense_Mutation	SNP	A	TCGA-CV-7099-01A-41D-2012-08	2572342	52659522	6469461	295	49889											
ZNF415	55786	broad.mit.edu	37	chr19	53612343	53612343	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctccaatatgagttttctGatgtagtgcaaggcatgaat	11	14	9	7	0	2	3	0	3	2	0	3	3	2	3	1	1	1	4	1	1	5	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:53612343G>A	ENST00000455735.2	-	7	1419	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*	ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Q367*|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.Q306*|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Q331*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.Q319*|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.Q89*|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Nonsense_Mutation_p.Q319*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGAGTTTTCTGATGTAGTGCA	0.418													21	44					0	0	0	0	A	53612343	G	A	53612343	4	1	277	1	0	0	0	0	0	1	0	0	17987	1299	45	2	716	2	ZNF415	19	53612343	Nonsense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	952821	53612343	5516640	296	49890											
ZNF582	147948	broad.mit.edu	37	chr19	56896256	56896256	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttttgccagaagtcttttCtacatttattatacccaaaa	12	16	3	10	0	2	1	0	0	2	1	2	1	2	1	3	0	3	0	3	0	7	9			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:56896256C>G	ENST00000301310.4	-	5	688	c.530G>C	c.(529-531)aGa>aCa	p.R177T	ZNF582_ENST00000586929.1_Missense_Mutation_p.R177T	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GAAGTCTTTTCTACATTTATT	0.328													27	47					0	0	0	0	G	56896256	C	G	56896256	3	3	277	1	0	0	0	0	1	0	0	0	18109	913	32	2	1027	2	ZNF582	19	56896256	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	3283913	56896256	2232727	297	49891											
ZNF584	201514	broad.mit.edu	37	chr19	58928446	58928446	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattctgaagagagacccttCagatgcccaacaggcagaag	14	6	10	11	0	2	5	1	1	1	4	2	6	2	5	2	1	2	1	2	1	3	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:58928446C>T	ENST00000306910.4	+	4	1084	c.561C>T	c.(559-561)ttC>ttT	p.F187F	ZNF584_ENST00000593920.1_Silent_p.F142F|ZNF584_ENST00000596921.1_3'UTR|ZNF584_ENST00000322834.7_3'UTR|ZNF584_ENST00000599238.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		AGAGACCCTTCAGATGCCCAA	0.468													10	31					0	0	0	0	T	58928446	C	T	58928446	2	4	277	1	0	0	0	0	0	0	0	1	18111	825	29	2		2	ZNF584	19	58928446	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	2032190	58928446	200537	298	49892											
ZNF324B	388569	broad.mit.edu	37	chr19	58967529	58967529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgctctgcggtgctgccttCagccagggctcctcgctctt	2	11	12	16	3	3	0	1	0	2	0	5	0	4	0	3	2	4	4	3	2	0	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:58967529C>T	ENST00000391696.1	+	3	2120	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	ZNF324B_ENST00000336614.4_Silent_p.F406F|ZNF324B_ENST00000545523.1_Silent_p.F406F			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GTGCTGCCTTCAGCCAGGGCT	0.662													5	58					0	0	0	0	T	58967529	C	T	58967529	2	4	277	1	0	0	0	0	0	0	0	1	17940	825	29	2		2	ZNF324B	19	58967529	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	39083	58967529	161454	299	49893											
RALGAPA2	57186	broad.mit.edu	37	chr20	20453517	20453517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttcacagccctgctggcGttgatgcacgtggcacatac	8	9	10	14	2	1	1	1	1	0	0	1	1	1	1	1	2	4	4	1	2	1	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:20453517G>A	ENST00000202677.6	-	37	5593	c.5451C>T	c.(5449-5451)aaC>aaT	p.N1817N		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1817	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CCCTGCTGGCGTTGATGCACG	0.468													15	36					0	0	0	0	A	20453517	G	A	20453517	2	1	277	1	0	0	0	0	0	0	0	1	13096	1136	40	1		1	RALGAPA2	20	20453517	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08		20453517	42572003	300	49894											
CST1	1469	broad.mit.edu	37	chr20	23729656	23729656	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcatcaggaacgtaccttCtgcagttctggctgttcatg	7	13	10	11	1	4	0	2	0	2	0	4	1	4	1	1	2	4	6	1	2	2	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:23729656C>G	ENST00000304749.2	-	2	409	c.339G>C	c.(337-339)caG>caC	p.Q113H	CST1_ENST00000398402.1_Missense_Mutation_p.Q113H	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	113						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					AACGTACCTTCTGCAGTTCTG	0.562													8	165					0	0	0	0	G	23729656	C	G	23729656	3	3	277	1	0	0	0	0	1	0	0	0	4002	912	32	2	94	2	CST1	20	23729656	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	3276139	23729656	39295864	301	49895											
ACSS1	84532	broad.mit.edu	37	chr20	25011402	25011402	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccacctcctcaccatcattGatcctcccagccaaggactc	9	8	4	20	0	2	1	2	1	0	0	6	2	5	2	7	1	1	0	7	1	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:25011402G>A	ENST00000537502.1	-	1	1906	c.375C>T	c.(373-375)atC>atT	p.I125I	ACSS1_ENST00000323482.4_Silent_p.I208I|ACSS1_ENST00000432802.2_Silent_p.I208I|ACSS1_ENST00000542618.1_Silent_p.I87I			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	208					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCATCATTGATCCTCCCAG	0.592													24	43					0	0	0	0	A	25011402	G	A	25011402	2	1	277	1	0	0	0	0	0	0	0	1	188	1280	45	2		2	ACSS1	20	25011402	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1281746	25011402	38014118	302	49896											
RALGAPB	57148	broad.mit.edu	37	chr20	37174953	37174953	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccttgtagtcttgtgaatGagaccactttgattaaatac	11	15	7	8	0	1	3	0	3	1	1	2	4	2	3	2	0	1	1	2	0	5	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:37174953G>C	ENST00000262879.6	+	19	3066	c.2782G>C	c.(2782-2784)Gag>Cag	p.E928Q	RALGAPB_ENST00000397040.1_Missense_Mutation_p.E928Q|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E924Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E706Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	928					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCTTGTGAATGAGACCACTTT	0.438													26	74					0	0	0	0	C	37174953	G	C	37174953	3	2	277	1	0	0	0	0	1	0	0	0	13097	1291	45	2	2852	2	RALGAPB	20	37174953	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	12163551	37174953	25850567	303	49897											
ZNF335	63925	broad.mit.edu	37	chr20	44578159	44578159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcagggaccacaacatattCctgggggagcaggtgctgga	10	8	14	9	0	1	0	1	0	0	0	2	3	2	3	2	5	3	2	2	5	2	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:44578159C>T	ENST00000322927.2	-	25	3818	c.3718G>A	c.(3718-3720)Gaa>Aaa	p.E1240K	ZNF335_ENST00000426788.1_Missense_Mutation_p.E1085K	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1240	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACAACATATTCCTGGGGGAGC	0.617													10	26					0	0	0	0	T	44578159	C	T	44578159	3	4	277	1	0	0	0	0	1	0	0	0	17947	864	30	2	326	2	ZNF335	20	44578159	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	7403206	44578159	18447361	304	49898											
ELMO2	63916	broad.mit.edu	37	chr20	45000282	45000282	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagccggttcaggcgctgCtgcttgatcagctcaaggat	8	9	13	11	2	3	2	3	1	0	1	3	3	3	3	1	3	4	5	1	3	1	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:45000282C>G	ENST00000372176.1	-	18	1833	c.1365G>C	c.(1363-1365)caG>caC	p.Q455H	ELMO2_ENST00000439931.2_Missense_Mutation_p.Q555H|ELMO2_ENST00000454865.2_Missense_Mutation_p.Q275H|ELMO2_ENST00000290246.6_Missense_Mutation_p.Q543H|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q360H|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q543H|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q541H			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	543	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCAGGCGCTGCTGCTTGATCA	0.612													12	32					0	0	0	0	G	45000282	C	G	45000282	3	3	277	1	0	0	0	0	1	0	0	0	5104	796	28	4	553	4	ELMO2	20	45000282	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	422123	45000282	18025238	305	49899											
PPP1R3D	5509	broad.mit.edu	37	chr20	58514571	58514571	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggctgctgcagcacaggtccGagttgattgcgagccgcgac	7	7	15	12	4	0	1	0	1	0	0	1	4	1	1	2	2	5	5	2	2	0	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:58514571G>C	ENST00000370996.3	-	1	781	c.416C>G	c.(415-417)tCg>tGg	p.S139W	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	139					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	p.S139*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GCACAGGTCCGAGTTGATTGC	0.682													13	29					0	0	0	0	C	58514571	G	C	58514571	3	2	277	1	0	0	0	0	1	0	0	0	12450	1059	37	3	487	3	PPP1R3D	20	58514571	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	13514289	58514571	4510949	306	49900											
DIDO1	11083	broad.mit.edu	37	chr20	61527745	61527745	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcatcgctgtcattgactCtgaacagaataaaaaaaagg	17	9	8	7	1	3	3	2	2	1	1	4	3	3	3	0	1	1	1	0	1	6	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:61527745C>G	ENST00000266070.4	-	8	2380		c.e8-1		DIDO1_ENST00000395335.2_Splice_Site|DIDO1_ENST00000395343.1_Splice_Site|DIDO1_ENST00000395340.1_Splice_Site	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1						apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCATTGACTCTGAACAGAAT	0.363													11	33					0	0	0	0	G	61527745	C	G	61527745	5	3	277	1	0	0	0	0	0	0	1	0	4559	927	32	2	4733	2	DIDO1	20	61527745	Splice_Site	SNP	C	TCGA-CV-7099-01A-41D-2012-08	3013174	61527745	1497775	307	49901											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253855	32253855	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacatgatgtcagacaGagggctgcaggtagcttgct	11	8	15	7	0	1	3	1	1	0	2	1	5	1	4	0	3	3	5	0	3	2	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr21:32253855G>T	ENST00000332378.4	-	0	19					NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1							keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ATGTCAGACAGAGGGCTGCAG	0.517													26	70					4.43304e-23	6.67864e-23	1	0	T	32253855	G	T	32253855	1	4	277	1	0	0	0	0	0	0	0	0	8569	957	33	2		2	KRTAP11-1	21	32253855	Translation_Start_Site	SNP	G	TCGA-CV-7099-01A-41D-2012-08		32253855	15876040	308	49902											
DSCAM	1826	broad.mit.edu	37	chr21	41496216	41496216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacaaagaccatggaggctGaggccgccgctgccttcaca	11	5	11	14	2	1	2	1	1	0	1	1	3	1	3	4	3	1	2	4	3	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr21:41496216G>A	ENST00000400454.1	-	20	4079	c.3602C>T	c.(3601-3603)tCa>tTa	p.S1201L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1201	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATGGAGGCTGAGGCCGCCGC	0.592													36	89					0	0	0	0	A	41496216	G	A	41496216	3	1	277	1	0	0	0	0	1	0	0	0	4804	1294	45	2	2492	2	DSCAM	21	41496216	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	9242361	41496216	6633679	309	49903											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057496	46057496	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtccagcccctgctgccaGacggcctgtgagcccagcgc	5	6	13	17	2	0	2	0	1	0	1	1	2	1	2	6	1	5	1	6	1	0	0			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr21:46057496G>A	ENST00000380095.1	+	1	224	c.162G>A	c.(160-162)caG>caA	p.Q54Q	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	54	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CCTGCTGCCAGACGGCCTGTG	0.657													32	70					0	0	0	0	A	46057496	G	A	46057496	2	1	277	1	0	0	0	0	0	0	0	1	8558	933	33	2		2	KRTAP10-10	21	46057496	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	4561280	46057496	2072399	310	49904											
TXNRD2	10587	broad.mit.edu	37	chr22	19864723	19864723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtgggatggatacccaCggtccgcatcacctgcgcat	8	8	12	13	3	1	0	1	0	0	0	2	2	2	2	3	3	2	3	3	3	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:19864723C>T	ENST00000535882.1	-	17	1476	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	TXNRD2_ENST00000400518.1_Missense_Mutation_p.V464M|TXNRD2_ENST00000400519.1_Missense_Mutation_p.V493M|TXNRD2_ENST00000400521.1_Missense_Mutation_p.V494M|TXNRD2_ENST00000400525.1_Missense_Mutation_p.V471M|TXNRD2_ENST00000542719.1_Missense_Mutation_p.V464M			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	494					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TGGATACCCACGGTCCGCATC	0.657													8	24					0	0	0	0	T	19864723	C	T	19864723	3	4	277	1	0	0	0	0	1	0	0	0	16904	536	19	1	98	1	TXNRD2	22	19864723	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08		19864723	31439843	311	49905											
LRP5L	91355	broad.mit.edu	37	chr22	25755871	25755871	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttgtgggaggtgctgttGaggcacgtcacctcgatgtg	6	12	15	8	2	2	1	1	1	1	0	3	3	2	2	1	3	1	3	1	3	0	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:25755871G>C	ENST00000444995.3	-	4	889	c.189C>G	c.(187-189)ctC>ctG	p.L63L	LRP5L_ENST00000402785.2_Silent_p.L63L|LRP5L_ENST00000402859.2_Silent_p.L63L			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	63										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						AGGTGCTGTTGAGGCACGTCA	0.597													18	80					0	0	0	0	C	25755871	G	C	25755871	2	2	277	1	0	0	0	0	0	0	0	1	9025	1277	45	2		2	LRP5L	22	25755871	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	5891148	25755871	25548695	312	49906											
TRIOBP	11078	broad.mit.edu	37	chr22	38168710	38168710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagctgaaggagcacctgCgtcttgccatggccgccctc	7	7	12	15	2	1	1	0	1	1	0	2	2	1	2	4	2	5	3	4	2	1	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:38168710C>T	ENST00000406386.3	+	23	7294	c.7039C>T	c.(7039-7041)Cgt>Tgt	p.R2347C	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.R634C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2347					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					GGAGCACCTGCGTCTTGCCAT	0.627													7	141					0	0	0	0	T	38168710	C	T	38168710	3	4	277	1	0	0	0	0	1	0	0	0	16648	768	27	1	7423	1	TRIOBP	22	38168710	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	12412839	38168710	13135856	313	49907											
PARVG	64098	broad.mit.edu	37	chr22	44583758	44583758	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctacaccacctattcCgtaagtggctgtttctgggg	7	13	9	12	1	2	0	1	0	1	0	4	0	4	0	4	3	1	3	4	3	3	5	rs147016590		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:44583758C>T	ENST00000422871.1	+	5	671	c.247_splice	c.e5+1	p.Q83_splice	PARVG_ENST00000415224.1_Splice_Site_p.Q83_splice|PARVG_ENST00000444313.2_Splice_Site_p.Q83_splice	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	83	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.Q83*(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CCACCTATTCCGTAAGTGGCT	0.612													13	34					0	0	0	0	T	44583758	C	T	44583758	5	4	277	1	0	0	0	0	0	0	1	0	11541	666	23	1	257	1	PARVG	22	44583758	Splice_Site	SNP	C	TCGA-CV-7099-01A-41D-2012-08	6415048	44583758	6720808	314	49908											
SBF1	6305	broad.mit.edu	37	chr22	50906317	50906317	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaggtcggtggattcctCtcgggacacagctgccaccc	9	7	12	13	2	1	1	0	0	1	1	4	3	2	3	3	4	2	1	3	4	2	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:50906317C>G	ENST00000380817.2	-	3	360	c.177G>C	c.(175-177)gaG>gaC	p.E59D	SBF1_ENST00000390679.3_Missense_Mutation_p.E59D|SBF1_ENST00000348911.6_Missense_Mutation_p.E59D	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	59	UDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGATTCCTCTCGGGACACA	0.632													20	34					0	0	0	0	G	50906317	C	G	50906317	3	3	277	1	0	0	0	0	1	0	0	0	13944	912	32	2	5660	2	SBF1	22	50906317	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	6322559	50906317	398249	315	49909											
SYAP1	94056	broad.mit.edu	37	chrX	16774794	16774794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacttcttagaggcagtaCggcccaaaacgccacccgtt	10	8	8	15	3	2	1	1	0	1	1	2	1	2	1	3	2	2	3	3	2	4	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:16774794C>T	ENST00000380155.3	+	7	826	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	245										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AGAGGCAGTACGGCCCAAAAC	0.343													12	33					0	0	0	0	T	16774794	C	T	16774794	3	4	277	1	0	0	0	0	1	0	0	0	15516	527	19	1	759	1	SYAP1	23	16774794	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08		16774794	138495766	316	49910											
MED14	9282	broad.mit.edu	37	chrX	40534538	40534538	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatctcctcctataggagAagggggattatcgtcctcat	10	12	9	10	1	2	1	1	0	1	1	6	3	4	2	3	3	0	0	3	3	5	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:40534538A>T	ENST00000324817.1	-	22	3074	c.2956T>A	c.(2956-2958)Tct>Act	p.S986T	MED14_ENST00000496531.1_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	986					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTATAGGAGAAGGGGGATTA	0.423													14	39					0	0	0	0	T	40534538	A	T	40534538	3	4	277	1	0	0	0	0	1	0	0	0	9501	246	9	5	1448	5	MED14	23	40534538	Missense_Mutation	SNP	A	TCGA-CV-7099-01A-41D-2012-08	23759744	40534538	114736022	317	49911											
CACNA1F	778	broad.mit.edu	37	chrX	49067781	49067781	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtgaggaaatggttctcaCcaggaaggcacagagcatga	13	8	13	7	0	1	3	1	2	1	1	2	5	1	5	1	4	1	3	1	4	2	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:49067781C>A	ENST00000376265.2	-	36	4355		c.e36+1		CACNA1F_ENST00000323022.5_Splice_Site|CACNA1F_ENST00000376251.1_Splice_Site	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit						axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ATGGTTCTCACCAGGAAGGCA	0.552													9	31					0.000442599	0.000627289	1	0	A	49067781	C	A	49067781	5	1	277	1	0	0	0	0	0	0	1	0	2568	521	18	4	1691	4	CACNA1F	23	49067781	Splice_Site	SNP	C	TCGA-CV-7099-01A-41D-2012-08	8533243	49067781	106202779	318	49912											
AKAP4	8852	broad.mit.edu	37	chrX	49958650	49958650	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcttttaccttccaacttCtccttgatttccttatgggc	5	19	5	12	0	1	1	0	1	1	0	4	1	3	1	4	1	3	1	4	1	3	8			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:49958650C>T	ENST00000376056.2	-	5	837	c.687G>A	c.(685-687)gaG>gaA	p.E229E	AKAP4_ENST00000376064.3_Silent_p.E229E|AKAP4_ENST00000358526.2_Silent_p.E238E|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	238	PKA-RI and PKA-RII subunit binding domain (By similarity).				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTCCAACTTCTCCTTGATTT	0.448													30	90					0	0	0	0	T	49958650	C	T	49958650	2	4	277	1	0	0	0	0	0	0	0	1	453	912	32	2		2	AKAP4	23	49958650	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	890869	49958650	105311910	319	49913											
DGAT2L6	347516	broad.mit.edu	37	chrX	69424816	69424816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcatagttggggaaccccttCcaattcccaggattaagagg	11	10	10	10	0	1	1	1	0	0	1	3	3	3	3	4	4	1	1	4	4	4	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:69424816C>T	ENST00000333026.3	+	7	974	c.874C>T	c.(874-876)Cca>Tca	p.P292S		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	292					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGAACCCCTTCCAATTCCCAG	0.463													10	26					0	0	0	0	T	69424816	C	T	69424816	3	4	277	1	0	0	0	0	1	0	0	0	4496	855	30	2	900	2	DGAT2L6	23	69424816	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	19466166	69424816	85845744	320	49914											
P2RY10	27334	broad.mit.edu	37	chrX	78216842	78216842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaggaaaccatcattagCagttgtcccgttgtccgaat	12	11	9	9	2	1	0	1	0	0	0	3	2	3	1	3	1	2	4	3	1	5	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:78216842C>A	ENST00000171757.2	+	4	1105	c.825C>A	c.(823-825)agC>agA	p.S275R	P2RY10_ENST00000544091.1_Missense_Mutation_p.S275R	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	275						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCATCATTAGCAGTTGTCCCG	0.423													80	161					3.37217e-29	5.09375e-29	1	0	A	78216842	C	A	78216842	3	1	277	1	0	0	0	0	1	0	0	0	11418	709	25	4	827	4	P2RY10	23	78216842	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	8792026	78216842	77053718	321	49915											
BRWD3	254065	broad.mit.edu	37	chrX	79975138	79975138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctgcccaattacctgttCtactacctcaccatcacctt	8	14	3	16	0	3	0	2	0	1	0	3	0	3	0	5	0	5	2	5	0	4	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:79975138C>T	ENST00000373275.4	-	18	2110	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	632										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTACCTGTTCTACTACCTCA	0.358													30	86					0	0	0	0	T	79975138	C	T	79975138	3	4	277	1	0	0	0	0	1	0	0	0	1534	922	32	2	3610	2	BRWD3	23	79975138	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1758296	79975138	75295422	322	49916											
NAP1L3	4675	broad.mit.edu	37	chrX	92927775	92927775	+	Frame_Shift_Del	DEL	C	C	-																															actaggggtgttatcctgcaCctcctcatcactgctgaact																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:92927775delC	ENST00000373079.3	-	1	792	c.529delG	c.(529-531)tgfs	p.V177fs	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	177	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTATCCTGCACCTCCTCATCA	0.453													27	74	---	---	---	---					-	92927775	C	-	92927775	7	5	277	1	0	1	0	1	0	0	0	0	10228	507	18	0	995	0	NAP1L3	23	92927775	Frame_Shift_Del	DEL	C	TCGA-CV-7099-01A-41D-2012-08	12952637	92927775	62342785	323	49917											
DIAPH2	1730	broad.mit.edu	37	chrX	96204003	96204003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagagatgagaaaatcaaaGaacttgaagcagaaatccag	22	5	9	5	0	1	5	1	2	0	4	2	7	2	5	1	0	2	1	1	0	7	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:96204003G>A	ENST00000324765.8	+	15	1926	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	DIAPH2_ENST00000373054.4_Missense_Mutation_p.E523K|DIAPH2_ENST00000373061.3_Missense_Mutation_p.E527K|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E527K|DIAPH2_ENST00000355827.4_Missense_Mutation_p.E527K			O60879	DIAP2_HUMAN	diaphanous-related formin 2	527					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GAAAATCAAAGAACTTGAAGC	0.373													11	30					0	0	0	0	A	96204003	G	A	96204003	3	1	277	1	0	0	0	0	1	0	0	0	4556	943	33	2	1637	2	DIAPH2	23	96204003	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	3276228	96204003	59066557	324	49918											
XKRX	402415	broad.mit.edu	37	chrX	100169570	100169570	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtaacactttcactccaaaGaacttaaaaaccaagaccat	19	8	3	11	0	1	2	1	0	0	2	2	2	2	2	3	0	3	1	3	0	7	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:100169570G>C	ENST00000328526.5	-	3	1711	c.1146C>G	c.(1144-1146)ttC>ttG	p.F382L	XKRX_ENST00000372956.2_Missense_Mutation_p.F369L|XKRX_ENST00000468904.1_3'UTR	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	369						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCACTCCAAAGAACTTAAAAA	0.428													51	114					0	0	0	0	C	100169570	G	C	100169570	3	2	277	1	0	0	0	0	1	0	0	0	17535	933	33	2	246	2	XKRX	23	100169570	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	3965567	100169570	55100990	325	49919											
COL4A5	1287	broad.mit.edu	37	chrX	107925060	107925060	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgctggtcctccaggaatCcctggccagcctgggctaaa	8	8	12	13	0	0	0	0	0	0	0	3	2	3	1	5	4	2	2	5	4	3	1	rs104886404		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:107925060C>G	ENST00000328300.6	+	47	4402	c.4158C>G	c.(4156-4158)atC>atG	p.I1386M	COL4A5_ENST00000361603.2_Missense_Mutation_p.I1380M	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1380	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTCCAGGAATCCCTGGCCAGC	0.453									Alport syndrome with Diffuse Leiomyomatosis				13	58					0	0	0	0	G	107925060	C	G	107925060	3	3	277	1	0	0	0	0	1	0	0	0	3724	845	30	2	4329	2	COL4A5	23	107925060	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	7755490	107925060	47345500	326	49920											
DOCK11	139818	broad.mit.edu	37	chrX	117707777	117707778	+	Frame_Shift_Ins	INS	-	-	T																															ttcattcccaggttgagcccINSttttttatcaatcttgcctt																										TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:117707777_117707778insT	ENST00000276204.6	+	12	1259_1260	c.1185_1186insT	c.(1183-1188)ccttttfs	p.PF395fs	DOCK11_ENST00000276202.7_Frame_Shift_Ins_p.PF395fs			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	395					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGGTTGAGCCCTTTTTTATCAA	0.411													52	137	---	---	---	---					T	117707778	-	T	117707777	7	5	277	1	0	1	1	0	0	0	0	0	4722	668	24	0	1231	0	DOCK11	23	117707777	Frame_Shift_Ins	INS	-	TCGA-CV-7099-01A-41D-2012-08	9782717	117707777	37562783	327	49921											
SLC25A43	203427	broad.mit.edu	37	chrX	118586986	118586986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgagaattaaagaagttCttcaaaacgagaaaaccgaa	20	8	7	6	3	2	3	1	0	1	3	2	6	2	3	1	0	3	1	1	0	10	4			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:118586986C>A	ENST00000217909.7	+	5	1328	c.984C>A	c.(982-984)ttC>ttA	p.F328L	SLC25A43_ENST00000336249.7_3'UTR|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	328					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						TAAAGAAGTTCTTCAAAACGA	0.388													36	82					1.06647e-15	1.59415e-15	1	0	A	118586986	C	A	118586986	3	1	277	1	0	0	0	0	1	0	0	0	14596	912	32	2	1002	2	SLC25A43	23	118586986	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	879209	118586986	36683574	328	49922											
SEPT6	23157	broad.mit.edu	37	chrX	118763373	118763373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccgccgtctttctttgcttGaaagcattcacttcatcatc	7	15	6	13	2	5	1	3	1	2	0	6	1	5	1	2	0	2	2	2	0	1	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:118763373G>A	ENST00000394610.1	-	9	1452	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000354416.3_Silent_p.F396F|SEPT6_ENST00000354228.4_Silent_p.F396F|SEPT6_ENST00000343984.5_Silent_p.F396F|SEPT6_ENST00000489216.1_Silent_p.F396F|SEPT6_ENST00000394616.4_Silent_p.F338F|SEPT6_ENST00000394617.2_Silent_p.F426F|SEPT6_ENST00000360156.7_Silent_p.F396F	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	396					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TTCTTTGCTTGAAAGCATTCA	0.493			T	MLL	AML								67	101					0	0	0	0	A	118763373	G	A	118763373	2	1	277	1	0	0	0	0	0	0	0	1	14155	1281	45	2		2	SEPT6	23	118763373	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	176387	118763373	36507187	329	49923											
ELF4	2000	broad.mit.edu	37	chrX	129203540	129203540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtggggctgctgtggcttCgctgctctcatcctcatctt	3	14	12	12	1	3	0	2	0	2	0	6	0	4	0	1	4	2	5	1	4	0	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:129203540C>T	ENST00000308167.5	-	8	1301	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	ELF4_ENST00000335997.7_Missense_Mutation_p.E308K	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	308					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCTGTGGCTTCGCTGCTCTCA	0.602			T	ERG	AML								11	123					0	0	0	0	T	129203540	C	T	129203540	3	4	277	1	0	0	0	0	1	0	0	0	5094	893	31	1	1077	1	ELF4	23	129203540	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	10440167	129203540	26067020	330	49924											
SAGE1	55511	broad.mit.edu	37	chrX	134989482	134989482	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgttttccagattccaccgtCcctcacaatgtctgtgaaga	9	13	7	12	1	2	3	1	1	1	2	5	3	5	3	4	0	0	1	4	0	2	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:134989482C>T	ENST00000535938.1	+	9	1055	c.888C>T	c.(886-888)gtC>gtT	p.V296V	SAGE1_ENST00000324447.3_Silent_p.V296V|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.V296V	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	296										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATTCCACCGTCCCTCACAATG	0.418													5	82					0	0	0	0	T	134989482	C	T	134989482	2	4	277	1	0	0	0	0	0	0	0	1	13894	842	30	2		2	SAGE1	23	134989482	Silent	SNP	C	TCGA-CV-7099-01A-41D-2012-08	5785942	134989482	20281078	331	49925											
SAGE1	55511	broad.mit.edu	37	chrX	134991057	134991057	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagtgttcgtgaagagaaGatggaaagtggcaaacccca	15	6	12	8	1	0	3	0	1	0	2	1	5	0	4	2	2	1	2	2	2	4	1			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:134991057G>A	ENST00000535938.1	+	13	1643	c.1476G>A	c.(1474-1476)aaG>aaA	p.K492K	SAGE1_ENST00000324447.3_Silent_p.K492K|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.K492K	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	492										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTGAAGAGAAGATGGAAAGTG	0.468													32	61					0	0	0	0	A	134991057	G	A	134991057	2	1	277	1	0	0	0	0	0	0	0	1	13894	933	33	2		2	SAGE1	23	134991057	Silent	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1575	134991057	20279503	332	49926											
ZIC3	7547	broad.mit.edu	37	chrX	136652129	136652129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactccacccgctatagcttCtgcaaacagtaaagatacca	14	8	5	14	1	1	1	0	0	1	1	2	1	2	1	3	0	4	4	3	0	6	5			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:136652129C>A	ENST00000287538.5	+	3	1854	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Intron	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	435					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCTATAGCTTCTGCAAACAGT	0.438													82	146					3.37217e-29	5.09375e-29	1	0	A	136652129	C	A	136652129	3	1	277	1	0	0	0	0	1	0	0	0	17775	913	32	2	1314	2	ZIC3	23	136652129	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1661072	136652129	18618431	333	49927											
F9	2158	broad.mit.edu	37	chrX	138619217	138619217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattctgaatcggccaaagaGgtataattcaggtaaattgg	15	11	10	5	1	2	2	1	1	1	1	3	2	2	2	1	4	0	2	1	4	7	6			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:138619217G>A	ENST00000218099.2	+	2	144	c.137G>A	c.(136-138)aGg>aAg	p.R46K	F9_ENST00000479617.1_3'UTR|F9_ENST00000394090.2_Missense_Mutation_p.R46K	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	46			R -> S (in HEMB; severe; Cambridge).|R -> T (in HEMB; severe).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CGGCCAAAGAGGTATAATTCA	0.323													8	173					0	0	0	0	A	138619217	G	A	138619217	3	1	277	1	0	0	0	0	1	0	0	0	5392	1000	35	4	143	4	F9	23	138619217	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	1967088	138619217	16651343	334	49928											
SPANXN2	494119	broad.mit.edu	37	chrX	142795394	142795394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcttcgtcctcctgtgaaGatccttcagctgagtctagg	6	13	11	11	1	3	3	1	2	2	1	7	3	6	3	3	2	1	1	3	2	2	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:142795394G>A	ENST00000370498.1	-	2	1037	c.284C>T	c.(283-285)tCt>tTt	p.S95F		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	95										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGAAGATCCTTCAGC	0.502													165	354					0	0	0	0	A	142795394	G	A	142795394	3	1	277	1	0	0	0	0	1	0	0	0	15081	942	33	2	262	2	SPANXN2	23	142795394	Missense_Mutation	SNP	G	TCGA-CV-7099-01A-41D-2012-08	4176177	142795394	12475166	335	49929											
GABRE	2564	broad.mit.edu	37	chrX	151123391	151123391	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagaggctgcggggaccctCagggctacctgggctagggg	6	5	19	11	1	1	1	1	0	0	1	1	2	1	2	2	7	2	4	2	7	2	2			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:151123391C>G	ENST00000370328.3	-	9	1356	c.1303G>C	c.(1303-1305)Gag>Cag	p.E435Q	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	435					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CGGGGACCCTCAGGGCTACCT	0.592													8	19					0	0	0	0	G	151123391	C	G	151123391	3	3	277	1	0	0	0	0	1	0	0	0	6218	835	29	2	221	2	GABRE	23	151123391	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	8327997	151123391	4147169	336	49930											
ATP2B3	492	broad.mit.edu	37	chrX	152845456	152845456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atccgggtggtgaaagcgttCcgtagctcgctctatgaagg	8	10	14	9	4	1	2	0	2	1	0	4	2	3	2	2	3	2	4	2	3	4	3			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:152845456C>T	ENST00000370186.1	+	21	3801	c.3475C>T	c.(3475-3477)Ccg>Tcg	p.P1159S	ATP2B3_ENST00000370181.2_Missense_Mutation_p.P1159S|ATP2B3_ENST00000263519.4_Silent_p.F1121F|ATP2B3_ENST00000359149.3_Missense_Mutation_p.P1173S|ATP2B3_ENST00000349466.2_Silent_p.F1121F			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	0					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAAAGCGTTCCGTAGCTCGC	0.562													51	70					0	0	0	0	T	152845456	C	T	152845456	3	4	277	1	0	0	0	0	1	0	0	0	1145	855	30	2	3599	2	ATP2B3	23	152845456	Missense_Mutation	SNP	C	TCGA-CV-7099-01A-41D-2012-08	1722065	152845456	2425104	337	49931											
UBR4	23352	broad.mit.edu	37	chr1	19451143	19451143	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcctcagtaccatttctgtTagaagctgagtataggcctc	10	12	9	10	0	2	2	1	1	1	1	3	2	2	2	3	1	3	4	3	1	5	5			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr1:19451143T>G	ENST00000375267.2	-	65	9483	c.9480A>C	c.(9478-9480)ctA>ctC	p.L3160L	UBR4_ENST00000375254.3_Silent_p.L3160L|UBR4_ENST00000375226.2_Silent_p.L3136L|UBR4_ENST00000375217.2_Silent_p.L3153L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3160					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCATTTCTGTTAGAAGCTGAG	0.423													14	44					0	0	0	0	G	19451143	T	G	19451143	2	3	278	1	0	0	0	0	0	0	0	1	17000	1741	61	5		5	UBR4	1	19451143	Silent	SNP	T	TCGA-CV-7100-01A-11D-2012-08		19451143	229799478	1	49932											
GPBP1L1	60313	broad.mit.edu	37	chr1	46099783	46099784	+	Frame_Shift_Ins	INS	-	-	A																															tcacctctttgggagaactcINSagagctgcaccactagccag																										TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr1:46099783_46099784insA	ENST00000355105.3	-	9	2229_2230	c.869_870insT	c.(868-870)cagfs	p.Q290fs	GPBP1L1_ENST00000290795.3_Frame_Shift_Ins_p.Q290fs|GPBP1L1_ENST00000479235.1_5'UTR	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TGGGAGAACTCAGAGCTGCACC	0.465													22	56	---	---	---	---					A	46099784	-	A	46099783	7	5	278	1	0	1	1	0	0	0	0	0	6645	813	29	0	574	0	GPBP1L1	1	46099783	Frame_Shift_Ins	INS	-	TCGA-CV-7100-01A-11D-2012-08	26648640	46099783	203150838	2	49933											
CYP4A11	1579	broad.mit.edu	37	chr1	47395831	47395831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggttagggagcctcctgaGacgcaggtggattccatttt	8	11	14	8	1	0	1	0	1	0	1	2	4	2	3	3	4	1	2	3	4	1	4	rs58897090		TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr1:47395831G>A	ENST00000310638.4	-	12	1547	c.1516C>T	c.(1516-1518)Ctc>Ttc	p.L506F	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.L507F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	506			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGCCTCCTGAGACGCAGGTGG	0.577													4	59					0	0	0	0	A	47395831	G	A	47395831	3	1	278	1	0	0	0	0	1	0	0	0	4215	942	33	2	47	2	CYP4A11	1	47395831	Missense_Mutation	SNP	G	TCGA-CV-7100-01A-11D-2012-08	1296048	47395831	201854790	3	49934											
ALK	238	broad.mit.edu	37	chr2	29451771	29451772	+	Frame_Shift_Del	DEL	CA	CA	-																															tatatatcctccgcctcctcCacctgaggagcacccccctc																										TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr2:29451771_29451772delCA	ENST00000389048.3	-	16	3699_3700	c.2793_2794delTG	c.(2791-2796)gggafs	p.GG935fs	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	935	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCGCCTCCTCCACCTGAGGAGC	0.619			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				12	33	---	---	---	---					-	29451772	CA	-	29451771	7	5	278	1	0	1	0	1	0	0	0	0	525	603	21	0	2124	0	ALK	2	29451771	Frame_Shift_Del	DEL	CA	TCGA-CV-7100-01A-11D-2012-08		29451771	213747602	4	49935											
PRR23A	729627	broad.mit.edu	37	chr3	138724434	138724434	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggagaggtgagctggggAcaggctccagaaggcggaat	10	6	19	6	1	0	3	0	1	0	2	1	6	1	5	1	7	1	3	1	7	2	1			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr3:138724434A>G	ENST00000383163.2	-	1	676	c.677T>C	c.(676-678)gTc>gCc	p.V226A		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	226	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						TGAGCTGGGGACAGGCTCCAG	0.682													6	17					0	0	0	0	G	138724434	A	G	138724434	3	3	278	1	0	0	0	0	1	0	0	0	12674	275	10	5	127	5	PRR23A	3	138724434	Missense_Mutation	SNP	A	TCGA-CV-7100-01A-11D-2012-08		138724434	59297996	5	49936											
KPNA4	3840	broad.mit.edu	37	chr3	160239585	160239585	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctgaactttaacttcctgGtggctgagcagaggaaccaa	12	9	10	10	0	0	3	0	2	0	1	1	4	1	4	3	3	4	2	3	3	4	3			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr3:160239585G>A	ENST00000334256.4	-	11	1190	c.885C>T	c.(883-885)caC>caT	p.H295H		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	295					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TAACTTCCTGGTGGCTGAGCA	0.388													53	79					0	0	0	0	A	160239585	G	A	160239585	2	1	278	1	0	0	0	0	0	0	0	1	8484	1252	44	4		4	KPNA4	3	160239585	Silent	SNP	G	TCGA-CV-7100-01A-11D-2012-08	21515151	160239585	37782845	6	49937											
NAALADL2	254827	broad.mit.edu	37	chr3	174974236	174974236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagttatggaatggcagatGatttaaaaaggattaggaaa	17	11	12	1	0	0	3	0	2	0	1	0	6	0	6	0	4	0	2	0	4	7	4			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr3:174974236G>A	ENST00000454872.1	+	4	984	c.856G>A	c.(856-858)Gat>Aat	p.D286N	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS2_ENST00000424690.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	286					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AATGGCAGATGATTTAAAAAG	0.363													14	78					0	0	0	0	A	174974236	G	A	174974236	3	1	278	1	0	0	0	0	1	0	0	0	10200	1290	45	2	870	2	NAALADL2	3	174974236	Missense_Mutation	SNP	G	TCGA-CV-7100-01A-11D-2012-08	14734651	174974236	23048194	7	49938											
SLC4A4	8671	broad.mit.edu	37	chr4	72319250	72319250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaagacataaagaggaaagCgccattttttgccagtgatt	15	11	9	6	1	0	3	0	1	0	2	0	4	0	4	2	1	2	0	2	1	5	6	rs138493429	byFrequency	TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr4:72319250C>G	ENST00000340595.3	+	9	1425	c.1229C>G	c.(1228-1230)gCg>gGg	p.A410G	SLC4A4_ENST00000512686.1_Missense_Mutation_p.A410G|SLC4A4_ENST00000351898.6_Missense_Mutation_p.A454G|SLC4A4_ENST00000264485.5_Missense_Mutation_p.A454G|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.A454G	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	454						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AAGAGGAAAGCGCCATTTTTT	0.343													28	113					0	0	0	0	G	72319250	C	G	72319250	3	3	278	1	0	0	0	0	1	0	0	0	14744	768	27	3	1524	3	SLC4A4	4	72319250	Missense_Mutation	SNP	C	TCGA-CV-7100-01A-11D-2012-08		72319250	118835026	8	49939											
FSTL5	56884	broad.mit.edu	37	chr4	162307557	162307558	+	Frame_Shift_Ins	INS	-	-	T																															tgacatggtttcaagatcaaINSttttttgtagtgcagcttca																										TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr4:162307557_162307558insT	ENST00000306100.5	-	16	2321_2322	c.1885_1886insA	c.(1885-1887)tgafs	p.*629fs	FSTL5_ENST00000379164.4_Frame_Shift_Ins_p.*628fs|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Frame_Shift_Ins_p.*619fs|FSTL5_ENST00000536695.1_Frame_Shift_Ins_p.*628fs	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	629						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTCAAGATCAATTTTTTGTAGT	0.361													13	36	---	---	---	---					T	162307558	-	T	162307557	7	5	278	1	0	1	1	0	0	0	0	0	6128	101	4	0	661	0	FSTL5	4	162307557	Frame_Shift_Ins	INS	-	TCGA-CV-7100-01A-11D-2012-08	89988307	162307557	28846719	9	49940											
ACSL1	2180	broad.mit.edu	37	chr4	185684332	185684332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcactcacctcgccctcgcCctcggcagccatgtaattca	7	10	6	18	3	3	0	3	0	0	0	6	0	3	0	4	1	1	2	4	1	1	3			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr4:185684332C>T	ENST00000515030.1	-	16	1835	c.1510G>A	c.(1510-1512)Ggc>Agc	p.G504S	ACSL1_ENST00000513317.1_Missense_Mutation_p.G504S|ACSL1_ENST00000281455.2_Missense_Mutation_p.G504S|ACSL1_ENST00000504342.1_Missense_Mutation_p.G504S|ACSL1_ENST00000454703.2_Missense_Mutation_p.G333S|ACSL1_ENST00000507295.1_Missense_Mutation_p.G470S|ACSL1_ENST00000437665.3_Missense_Mutation_p.G333S			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	504					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCGCCCTCGCCCTCGGCAGCC	0.488													10	28					0	0	0	0	T	185684332	C	T	185684332	3	4	278	1	0	0	0	0	1	0	0	0	177	623	22	4	610	4	ACSL1	4	185684332	Missense_Mutation	SNP	C	TCGA-CV-7100-01A-11D-2012-08	23376775	185684332	5469944	10	49941											
ARSI	340075	broad.mit.edu	37	chr5	149676844	149676844	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgaagcttgcaaatcttgCattttttcttgcgacgaccc	9	14	7	11	3	2	0	0	0	2	0	3	3	2	0	1	0	4	3	1	0	2	6			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr5:149676844C>A	ENST00000328668.7	-	2	2222	c.1643G>T	c.(1642-1644)tGc>tTc	p.C548F		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	548						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAAATCTTGCATTTTTTCTT	0.527													48	84					6.61955e-31	4.54342e-30	1	0	A	149676844	C	A	149676844	3	1	278	1	0	0	0	0	1	0	0	0	998	710	25	4	70	4	ARSI	5	149676844	Missense_Mutation	SNP	C	TCGA-CV-7100-01A-11D-2012-08		149676844	31238416	11	49942											
SLC30A8	169026	broad.mit.edu	37	chr8	118170064	118170064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcatcgtttccagctgcGcagtggcggccaacattgtg	7	11	12	11	3	1	1	1	1	0	0	3	1	2	1	2	2	3	3	2	2	1	2			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr8:118170064G>A	ENST00000427715.2	+	7	840	c.406G>A	c.(406-408)Gca>Aca	p.A136T	SLC30A8_ENST00000519688.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000456015.2_Missense_Mutation_p.A185T	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	185					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTCCAGCTGCGCAGTGGCGGC	0.527													37	69					0	0	0	0	A	118170064	G	A	118170064	3	1	278	1	0	0	0	0	1	0	0	0	14649	1087	38	1	567	1	SLC30A8	8	118170064	Missense_Mutation	SNP	G	TCGA-CV-7100-01A-11D-2012-08		118170064	28193958	12	49943											
ALPK3	57538	broad.mit.edu	37	chr15	85383922	85383922	+	Frame_Shift_Del	DEL	C	C	-																															ccagcccacacactccttgaCcccccagccgactaggcctt																								rs143709902	byFrequency	TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr15:85383922delC	ENST00000258888.5	+	5	2185	c.2018delC	c.(2017-2019)acfs	p.T673fs		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	673					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACTCCTTGACCCCCCAGCCG	0.617													17	55	---	---	---	---					-	85383922	C	-	85383922	7	5	278	1	0	1	0	1	0	0	0	0	546	507	18	0	2036	0	ALPK3	15	85383922	Frame_Shift_Del	DEL	C	TCGA-CV-7100-01A-11D-2012-08		85383922	17147470	13	49944											
IL34	146433	broad.mit.edu	37	chr16	70693992	70693993	+	Frame_Shift_Ins	INS	-	-	AGCTG																															attgcagtatgcggccacccINSagctgtaccctccgcccccg																										TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr16:70693992_70693993insAGCTG	ENST00000429149.2	+	7	1186_1187	c.631_632insAGCTG	c.(631-633)gctfs	p.A211fs	IL34_ENST00000288098.2_Frame_Shift_Ins_p.A211fs|IL34_ENST00000566361.1_Frame_Shift_Ins_p.A186fs	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	211					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TGCGGCCACCCAGCTGTACCCT	0.649													24	120	---	---	---	---					AGCTG	70693993	-	AGCTG	70693992	7	5	278	1	0	1	1	0	0	0	0	0	7747	595	21	0	653	0	IL34	16	70693992	Frame_Shift_Ins	INS	-	TCGA-CV-7100-01A-11D-2012-08		70693992	19660761	14	49945											
LDHD	197257	broad.mit.edu	37	chr16	75146279	75146279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactttgcctggattcatgAggccttgggggtctagcacg	6	11	14	10	1	2	1	1	1	1	0	2	2	2	2	2	4	2	2	2	4	1	4			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr16:75146279A>G	ENST00000300051.4	-	11	1545	c.1499T>C	c.(1498-1500)cTc>cCc	p.L500P	LDHD_ENST00000450168.2_Missense_Mutation_p.L477P	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	500							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						TGGATTCATGAGGCCTTGGGG	0.622													3	37					0	0	0	0	G	75146279	A	G	75146279	3	3	278	1	0	0	0	0	1	0	0	0	8756	304	11	5	28	5	LDHD	16	75146279	Missense_Mutation	SNP	A	TCGA-CV-7100-01A-11D-2012-08	4452287	75146279	15208474	15	49946											
PDYN	5173	broad.mit.edu	37	chr20	1961249	1961249	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggtcctcctcagcgagaTagagtgtgccagtctccatg	7	10	13	11	1	2	2	1	0	1	2	5	3	4	2	4	2	2	0	4	2	1	1			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr20:1961249T>G	ENST00000217305.2	-	4	710	c.485A>C	c.(484-486)tAt>tCt	p.Y162S	PDYN_ENST00000539905.1_Missense_Mutation_p.Y162S|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.Y162S	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	162					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCAGCGAGATAGAGTGTGCC	0.597													5	94					0	0	0	0	G	1961249	T	G	1961249	3	3	278	1	0	0	0	0	1	0	0	0	11770	1406	49	5	283	5	PDYN	20	1961249	Missense_Mutation	SNP	T	TCGA-CV-7100-01A-11D-2012-08		1961249	61064271	16	49947											
PLCB1	23236	broad.mit.edu	37	chr20	8678323	8678323	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtatcgccaagtgctcCtgtctggttgtcgctgtgtg	5	14	13	9	2	1	1	0	0	1	1	4	1	2	1	2	1	1	4	2	1	2	2			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr20:8678323C>T	ENST00000378641.3	+	11	1535	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	PLCB1_ENST00000378637.2_Silent_p.L354L|PLCB1_ENST00000338037.6_Silent_p.L354L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	354	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCAAGTGCTCCTGTCTGGTTG	0.502													38	86					0	0	0	0	T	8678323	C	T	8678323	2	4	278	1	0	0	0	0	0	0	0	1	12099	680	24	4		4	PLCB1	20	8678323	Silent	SNP	C	TCGA-CV-7100-01A-11D-2012-08	6717074	8678323	54347197	17	49948											
EP300	2033	broad.mit.edu	37	chr22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtatacatatcttacctcGatagtgttcatttcttccgt	9	17	6	9	2	3	0	1	0	2	0	5	2	4	0	2	0	2	2	2	0	5	8			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				32	24					0	0	0	0	A	41565529	G	A	41565529	3	1	278	1	0	0	0	0	1	0	0	0	5186	1058	37	1	4297	1	EP300	22	41565529	Missense_Mutation	SNP	G	TCGA-CV-7100-01A-11D-2012-08		41565529	9739037	18	49949											
CLCN4	1183	broad.mit.edu	37	chrX	10201603	10201603	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatggcaaaccaggacccCgaatccatcatgtttaatta	14	9	7	11	1	1	1	1	0	0	1	2	3	2	2	4	2	1	2	4	2	4	3			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chrX:10201603C>T	ENST00000380833.4	+	13	2653	c.2262C>T	c.(2260-2262)ccC>ccT	p.P754P	CLCN4_ENST00000421085.2_Silent_p.P660P|CLCN4_ENST00000380829.1_Silent_p.P723P	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	754	CBS 2.					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACCAGGACCCCGAATCCATCA	0.363													4	40					0	0	0	0	T	10201603	C	T	10201603	2	4	278	1	0	0	0	0	0	0	0	1	3495	639	23	1		1	CLCN4	23	10201603	Silent	SNP	C	TCGA-CV-7100-01A-11D-2012-08		10201603	145068957	19	49950											
HTR6	3362	broad.mit.edu	37	chr1	20005114	20005126	+	Frame_Shift_Del	DEL	ACGAAGCACAGCA	ACGAAGCACAGCA	-																															ctgacagcaggcgtctagccAcgaagcacagcaggaaggcc																								rs143893286	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:20005114_20005126delACGAAGCACAGCA	ENST00000289753.1	+	2	1236_1248	c.769_781delACGAAGCACAGCA	c.(769-783)ggfs	p.TKHSR257fs		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	257					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GCGTCTAGCCACGAAGCACAGCAGGAAGGCCCT	0.615													12	33	---	---	---	---					-	20005126	ACGAAGCACAGCA	-	20005114	7	5	279	1	0	1	0	1	0	0	0	0	7504	159	6	0	775	0	HTR6	1	20005114	Frame_Shift_Del	DEL	ACGAAGCACAGCA	TCGA-CV-7101-01A-11D-2012-08		20005114	229245507	1	49951											
KTI12	112970	broad.mit.edu	37	chr1	52498549	52498549	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggaagcgtgagcaagtcCccggggacagcgctcttctg	8	6	14	13	3	2	1	0	1	2	0	3	3	3	3	3	3	3	2	3	3	2	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:52498549C>A	ENST00000371614.1	-	1	939	c.885G>T	c.(883-885)ggG>ggT	p.G295G	TXNDC12_ENST00000371626.4_Intron|TXNDC12_ENST00000472624.1_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	295							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						TGAGCAAGTCCCCGGGGACAG	0.597													58	45					2.12129e-23	4.62478e-23	1	0	A	52498549	C	A	52498549	2	1	279	1	0	0	0	0	0	0	0	1	8637	610	22	4		4	KTI12	1	52498549	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08	32493435	52498549	196752072	2	49952											
PDE4B	5142	broad.mit.edu	37	chr1	66798150	66798150	+	Missense_Mutation	SNP	G	G	T																															tctgctatggacagcctgcaGccgctccagcctaactacat																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:66798150G>T	ENST00000371045.5	+	1	464	c.78G>T	c.(76-78)caG>caT	p.Q26H	PDE4B_ENST00000423207.2_Intron|PDE4B_ENST00000329654.4_Intron|PDE4B_ENST00000371049.3_Intron	NM_001037339.1	NP_001032416.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	202					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ACAGCCTGCAGCCGCTCCAGC	0.507													21	35					7.21436e-19	1.53147e-18	1	0	T	66798150	G	T	66798150	3	4	279	1	0	0	0	0	1	0	0	0	11711	962	34	4	978	4	PDE4B	1	66798150	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	14299601	66798150	182452471	3	49953	391	2									
PDE4B	5142	broad.mit.edu	37	chr1	66798151	66798151	+	Missense_Mutation	SNP	C	C	T																															ctgctatggacagcctgcagCcgctccagcctaactacatg																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:66798151C>T	ENST00000371045.5	+	1	465	c.79C>T	c.(79-81)Ccg>Tcg	p.P27S	PDE4B_ENST00000423207.2_Intron|PDE4B_ENST00000329654.4_Intron|PDE4B_ENST00000371049.3_Intron	NM_001037339.1	NP_001032416.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	203					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CAGCCTGCAGCCGCTCCAGCC	0.507													20	34					0	0	0	0	T	66798151	C	T	66798151	3	4	279	1	0	0	0	0	1	0	0	0	11711	739	26	4	979	4	PDE4B	1	66798151	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	1	66798151	182452470	4	49954	391	2									
DPYD	1806	broad.mit.edu	37	chr1	97771778	97771778	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacaatatcagtgacatttgGggtcagcttggcaaaaaaag	15	9	10	7	0	2	1	2	1	0	0	2	1	2	1	0	3	1	2	0	3	5	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:97771778G>C	ENST00000370192.3	-	17	2234	c.2134C>G	c.(2134-2136)Cca>Gca	p.P712A	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	712					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GTGACATTTGGGGTCAGCTTG	0.448													34	146					0	0	0	0	C	97771778	G	C	97771778	3	2	279	1	0	0	0	0	1	0	0	0	4781	1232	43	4	971	4	DPYD	1	97771778	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	30973627	97771778	151478843	5	49955											
AMY2A	279	broad.mit.edu	37	chr1	104160645	104160645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggaaagataccaaccaGttagctataaattatgcaca	16	9	9	7	0	0	1	0	0	0	1	0	2	0	2	2	2	4	3	2	2	8	5			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:104160645G>T	ENST00000414303.2	+	2	302	c.238G>T	c.(238-240)Gtt>Ttt	p.V80F		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	80					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	ATACCAACCAGTTAGCTATAA	0.353													54	76					2.27459e-33	5.0041e-33	1	0	T	104160645	G	T	104160645	3	4	279	1	0	0	0	0	1	0	0	0	594	1029	36	4	244	4	AMY2A	1	104160645	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	6388867	104160645	145089976	6	49956											
YY1AP1	55249	broad.mit.edu	37	chr1	155629472	155629472	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatccactgatttcctcTgtagcatcttcaggttccat	10	14	6	11	0	3	2	1	1	2	1	6	2	6	2	3	1	1	3	3	1	2	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:155629472T>A	ENST00000368340.5	-	10	2691	c.2583A>T	c.(2581-2583)acA>acT	p.T861T	YY1AP1_ENST00000361831.5_Silent_p.T732T|YY1AP1_ENST00000295566.4_Silent_p.T789T|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000404643.1_Silent_p.T723T|YY1AP1_ENST00000311573.5_Silent_p.T712T|YY1AP1_ENST00000355499.4_Silent_p.T743T|YY1AP1_ENST00000535662.1_Silent_p.T589T|YY1AP1_ENST00000407221.1_Silent_p.T712T|YY1AP1_ENST00000359205.5_Silent_p.T732T|YY1AP1_ENST00000368330.2_Silent_p.T743T|YY1AP1_ENST00000347088.5_Silent_p.T743T|YY1AP1_ENST00000368339.5_Silent_p.T881T	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGATTTCCTCTGTAGCATCTT	0.507													7	213					0	0	0	0	A	155629472	T	A	155629472	2	1	279	1	0	0	0	0	0	0	0	1	17604	1567	55	5		5	YY1AP1	1	155629472	Silent	SNP	T	TCGA-CV-7101-01A-11D-2012-08	51468827	155629472	93621149	7	49957											
SEMA4A	64218	broad.mit.edu	37	chr1	156142765	156142765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacagcccagggccttgatgGgcacagccatcttgtcatgt	8	9	12	12	0	2	1	1	1	1	0	2	2	2	1	3	2	2	1	3	2	0	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:156142765G>A	ENST00000368285.3	+	11	1550	c.1283G>A	c.(1282-1284)gGg>gAg	p.G428E	SEMA4A_ENST00000355014.2_Missense_Mutation_p.G428E|SEMA4A_ENST00000368282.1_Missense_Mutation_p.G428E|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Missense_Mutation_p.G296E|SEMA4A_ENST00000368284.1_Missense_Mutation_p.G296E	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	428	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GGCCTTGATGGGCACAGCCAT	0.577													11	41					0	0	0	0	A	156142765	G	A	156142765	3	1	279	1	0	0	0	0	1	0	0	0	14118	1232	43	4	1321	4	SEMA4A	1	156142765	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	513293	156142765	93107856	8	49958											
UCK2	7371	broad.mit.edu	37	chr1	165860556	165860556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtatgactttgtctcccattCccggtaagtgagctgttctg	6	15	10	10	1	2	2	0	2	2	0	4	2	3	2	2	1	1	4	2	1	2	5			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:165860556C>G	ENST00000367879.4	+	3	656	c.353C>G	c.(352-354)tCc>tGc	p.S118C	UCK2_ENST00000372212.4_Missense_Mutation_p.S118C	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	118					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GTCTCCCATTCCCGGTAAGTG	0.502													7	20					0	0	0	0	G	165860556	C	G	165860556	3	3	279	1	0	0	0	0	1	0	0	0	17020	855	30	2	363	2	UCK2	1	165860556	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	9717791	165860556	83390065	9	49959											
HMCN1	83872	broad.mit.edu	37	chr1	186158872	186158872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaaacctgaaaggagtGgtgtatacaacacgaccact	16	7	10	8	1	0	2	0	2	0	0	0	5	0	3	2	2	3	1	2	2	6	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:186158872G>A	ENST00000271588.4	+	107	16999	c.16770G>A	c.(16768-16770)gtG>gtA	p.V5590V	HMCN1_ENST00000367492.2_Silent_p.V5473V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5590					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAAAGGAGTGGTGTATACAA	0.493													19	32					0	0	0	0	A	186158872	G	A	186158872	2	1	279	1	0	0	0	0	0	0	0	1	7270	1335	47	4		4	HMCN1	1	186158872	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	20298316	186158872	63091749	10	49960											
USH2A	7399	broad.mit.edu	37	chr1	215847971	215847971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacactagctgtgcaacCtccattcgtgcaggctacaa	11	9	8	13	1	0	1	0	1	0	0	2	1	1	1	2	1	5	4	2	1	4	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:215847971C>T	ENST00000366943.2	-	63	13668	c.13282G>A	c.(13282-13284)Ggt>Agt	p.G4428S	USH2A_ENST00000307340.3_Missense_Mutation_p.G4428S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4428	Fibronectin type-III 29.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGTGCAACCTCCATTCGTG	0.512										HNSCC(13;0.011)			4	53					0	0	0	0	T	215847971	C	T	215847971	3	4	279	1	0	0	0	0	1	0	0	0	17132	681	24	4	2366	4	USH2A	1	215847971	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	29689099	215847971	33402650	11	49961											
TGFB2	7042	broad.mit.edu	37	chr1	218520300	218520300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggcgagccggagggCggccgcctgcgagcgcgaga	8	1	21	11	7	0	2	0	0	0	2	0	7	0	3	3	5	3	0	3	5	1	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:218520300C>T	ENST00000366929.4	+	1	724	c.257C>T	c.(256-258)gCg>gTg	p.A86V	TGFB2_ENST00000366930.4_Missense_Mutation_p.A86V	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	86					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AGCCGGAGGGCGGCCGCCTGC	0.587													13	21					0	0	0	0	T	218520300	C	T	218520300	3	4	279	1	0	0	0	0	1	0	0	0	15912	768	27	1	259	1	TGFB2	1	218520300	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	2672329	218520300	30730321	12	49962											
EPHX1	2052	broad.mit.edu	37	chr1	226033041	226033041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgtcggtgctggagcGgcaatgacccacccctctcc	5	9	11	16	2	1	1	0	1	1	0	4	2	2	2	5	3	2	3	5	3	1	1	rs2234701		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:226033041G>A	ENST00000366837.4	+	9	1557	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	EPHX1_ENST00000272167.5_Missense_Mutation_p.R454Q|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	454			R -> Q (in allele EPHX1*5; dbSNP:rs2234701).		aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GTGCTGGAGCGGCAATGACCC	0.607													11	23					0	0	0	0	A	226033041	G	A	226033041	3	1	279	1	0	0	0	0	1	0	0	0	5217	1116	39	1	1391	1	EPHX1	1	226033041	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	7512741	226033041	23217580	13	49963											
ACTN2	88	broad.mit.edu	37	chr1	236911018	236911018	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgatcggtgccagaaaatTtgtgaccagtgggaccgact	12	9	12	8	2	0	3	0	2	0	1	1	5	0	4	3	2	1	0	3	2	3	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:236911018T>C	ENST00000366578.4	+	13	1624	c.1458T>C	c.(1456-1458)atT>atC	p.I486I	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Silent_p.I486I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	486					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCCAGAAAATTTGTGACCAGT	0.408													3	29					0	0	0	0	C	236911018	T	C	236911018	2	2	279	1	0	0	0	0	0	0	0	1	205	1829	64	5		5	ACTN2	1	236911018	Silent	SNP	T	TCGA-CV-7101-01A-11D-2012-08	10877977	236911018	12339603	14	49964											
RYR2	6262	broad.mit.edu	37	chr1	237675051	237675051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctccaagctgcctgaacagGagcgcaattacaacttacaa	14	8	7	12	1	1	1	0	1	1	0	2	2	1	2	2	1	7	2	2	1	7	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:237675051G>A	ENST00000366574.2	+	24	3099	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K	RYR2_ENST00000542537.1_Missense_Mutation_p.E912K|RYR2_ENST00000360064.6_Missense_Mutation_p.E926K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	928	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCTGAACAGGAGCGCAATTA	0.403													3	12					0	0	0	0	A	237675051	G	A	237675051	3	1	279	1	0	0	0	0	1	0	0	0	13854	1175	41	2	2876	2	RYR2	1	237675051	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	764033	237675051	11575570	15	49965											
RYR2	6262	broad.mit.edu	37	chr1	237813233	237813233	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcggtacctttgcacagcCgtcttgccattgttaacaag	10	12	8	11	2	1	0	0	0	1	0	2	0	1	0	3	1	5	3	3	1	4	5			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:237813233C>T	ENST00000366574.2	+	50	7886	c.7569C>T	c.(7567-7569)gcC>gcT	p.A2523A	RYR2_ENST00000542537.1_Silent_p.A2507A|RYR2_ENST00000360064.6_Silent_p.A2521A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2523	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGCACAGCCGTCTTGCCAT	0.463													41	118					0	0	0	0	T	237813233	C	T	237813233	2	4	279	1	0	0	0	0	0	0	0	1	13854	639	23	1		1	RYR2	1	237813233	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08	138182	237813233	11437388	16	49966											
ZP4	57829	broad.mit.edu	37	chr1	238050710	238050710	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caggaagtaaatggaaactgGaacagaacaaaagcttgtgt	18	7	11	5	0	0	1	0	0	0	1	0	4	0	4	0	3	4	2	0	3	8	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:238050710G>C	ENST00000366570.4	-	5	863	c.705C>G	c.(703-705)ttC>ttG	p.F235L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	235	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATGGAAACTGGAACAGAACAA	0.522													12	170					0	0	0	0	C	238050710	G	C	238050710	3	2	279	1	0	0	0	0	1	0	0	0	18311	1165	41	2	949	2	ZP4	1	238050710	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	237477	238050710	11199911	17	49967											
CHRM3	1131	broad.mit.edu	37	chr1	240071149	240071149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctacatcatcatgaatcGatgggccttagggaacttgg	11	10	11	9	1	2	1	2	1	0	0	3	4	2	2	2	3	2	0	2	3	4	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:240071149G>A	ENST00000255380.4	+	5	1177	c.398G>A	c.(397-399)cGa>cAa	p.R133Q		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	133					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ATCATGAATCGATGGGCCTTA	0.473													25	63					0	0	0	0	A	240071149	G	A	240071149	3	1	279	1	0	0	0	0	1	0	0	0	3407	1058	37	1	400	1	CHRM3	1	240071149	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	2020439	240071149	9179472	18	49968											
PLD5	200150	broad.mit.edu	37	chr1	242451674	242451674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtagcttacctgacatgctGatggatgagtgtggttgaga	9	13	14	5	0	0	4	0	4	0	1	0	6	0	5	1	2	3	4	1	2	2	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:242451674G>A	ENST00000442594.2	-	4	718	c.209C>T	c.(208-210)tCa>tTa	p.S70L	PLD5_ENST00000427495.1_Missense_Mutation_p.S100L|PLD5_ENST00000536534.1_Missense_Mutation_p.S162L	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	162						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CTGACATGCTGATGGATGAGT	0.428													12	64					0	0	0	0	A	242451674	G	A	242451674	3	1	279	1	0	0	0	0	1	0	0	0	12121	1294	45	2	1157	2	PLD5	1	242451674	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	2380525	242451674	6798947	19	49969											
CNST	163882	broad.mit.edu	37	chr1	246810610	246810610	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctgcagcgctgaagcCacgttagcgctccacaccca	8	7	9	17	3	1	1	0	1	1	0	2	1	2	1	3	0	5	5	3	0	2	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:246810610C>T	ENST00000366513.4	+	9	1376	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.A369A	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	369					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GCGCTGAAGCCACGTTAGCGC	0.587											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	97					0	0	0	0	T	246810610	C	T	246810610	2	4	279	1	0	0	0	0	0	0	0	1	3664	581	21	4		4	CNST	1	246810610	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08	4358936	246810610	2440011	20	49970											
OR2B11	127623	broad.mit.edu	37	chr1	247614634	247614634	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagccataggagagaaggatGagagccaggggcaccaacac	16	2	14	9	0	0	2	0	1	0	2	0	6	0	4	3	4	3	1	3	4	4	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:247614634G>A	ENST00000318749.6	-	1	674	c.651C>T	c.(649-651)ctC>ctT	p.L217L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGAGAAGGATGAGAGCCAGGG	0.582													7	50					0	0	0	0	A	247614634	G	A	247614634	2	1	279	1	0	0	0	0	0	0	0	1	11059	1277	45	2		2	OR2B11	1	247614634	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	804024	247614634	1635987	21	49971											
OR2W3	343171	broad.mit.edu	37	chr1	248059699	248059699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagttcttcccaggaccagGgcatgttcctcatgctcttc	6	12	8	15	0	3	0	1	0	2	0	6	1	5	1	4	2	1	4	4	2	0	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:248059699G>A	ENST00000537741.1	+	3	1068	c.811G>A	c.(811-813)Ggc>Agc	p.G271S	OR2W3_ENST00000360358.3_Missense_Mutation_p.G271S			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAGGACCAGGGCATGTTCCT	0.532													24	80					0	0	0	0	A	248059699	G	A	248059699	3	1	279	1	0	0	0	0	1	0	0	0	11104	1232	43	4	813	4	OR2W3	1	248059699	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	445065	248059699	1190922	22	49972											
TPO	7173	broad.mit.edu	37	chr2	1497685	1497685	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagatcctggacttgtacaAgcatcctgacaacatcgatg	13	9	8	11	1	0	2	0	1	0	1	3	4	2	3	2	1	3	2	2	1	4	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:1497685A>G	ENST00000345913.4	+	11	1971	c.1880A>G	c.(1879-1881)aAg>aGg	p.K627R	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.K627R|TPO_ENST00000337415.3_Missense_Mutation_p.K627R|TPO_ENST00000329066.4_Missense_Mutation_p.K627R|TPO_ENST00000382198.1_Missense_Mutation_p.K454R|TPO_ENST00000382201.3_Missense_Mutation_p.K570R|TPO_ENST00000349624.3_Missense_Mutation_p.K454R	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	627					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACTTGTACAAGCATCCTGAC	0.612													12	33					0	0	0	0	G	1497685	A	G	1497685	3	3	279	1	0	0	0	0	1	0	0	0	16505	72	3	5	1918	5	TPO	2	1497685	Missense_Mutation	SNP	A	TCGA-CV-7101-01A-11D-2012-08		1497685	241701688	23	49973											
NLRC4	58484	broad.mit.edu	37	chr2	32475056	32475056	+	Frame_Shift_Del	DEL	T	T	-																															cacctgtgtcttctgcagccTtttcccatgaagccatagct																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:32475056delT	ENST00000404025.2	-	5	2365	c.1877delA	c.(1876-1878)agfs	p.K626fs	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	626					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTGCAGCCTTTTCCCATGA	0.458													7	300	---	---	---	---					-	32475056	T	-	32475056	7	5	279	1	0	1	0	1	0	0	0	0	10539	1609	56	0	1221	0	NLRC4	2	32475056	Frame_Shift_Del	DEL	T	TCGA-CV-7101-01A-11D-2012-08	30977371	32475056	210724317	24	49974											
SNRNP200	23020	broad.mit.edu	37	chr2	96953231	96953231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggggaaattcttcttctCaatcttcttcactacttcct	10	16	4	11	0	6	0	2	0	5	0	8	1	7	1	1	2	1	0	1	2	4	7			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:96953231C>T	ENST00000323853.5	-	26	3507	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1144	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTCTTCTTCTCAATCTTCTTC	0.517													31	55					0	0	0	0	T	96953231	C	T	96953231	3	4	279	1	0	0	0	0	1	0	0	0	14940	835	29	2	3060	2	SNRNP200	2	96953231	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	64478175	96953231	146246142	25	49975											
TTN	7273	broad.mit.edu	37	chr2	179571656	179571656	+	Silent	SNP	G	G	T																															ccatctaccgcagctttcttGgttgctggggccacagctgg																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:179571656G>T	ENST00000589042.1	-	101	29291	c.29067C>A	c.(29065-29067)acC>acA	p.T9689T	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T8445T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.T9372T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9372	Ig-like 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTTTCTTGGTTGCTGGGG	0.393													5	13					5.9392e-07	1.16379e-06	1	0	T	179571656	G	T	179571656	2	4	279	1	0	0	0	0	0	0	0	1	16831	1335	47	4		4	TTN	2	179571656	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	82618425	179571656	63627717	26	49976	392	2									
TTN	7273	broad.mit.edu	37	chr2	179571657	179571657	+	Missense_Mutation	SNP	G	G	T																															catctaccgcagctttcttgGttgctggggccacagctggt																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:179571657G>T	ENST00000589042.1	-	101	29290	c.29066C>A	c.(29065-29067)aCc>aAc	p.T9689N	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T8445N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T9372N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9372	Ig-like 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTTCTTGGTTGCTGGGGC	0.393													5	13					5.9392e-07	1.16379e-06	1	0	T	179571657	G	T	179571657	3	4	279	1	0	0	0	0	1	0	0	0	16831	1261	44	4	75511	4	TTN	2	179571657	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	1	179571657	63627716	27	49977	392	2									
CDK15	65061	broad.mit.edu	37	chr2	202744779	202744779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcctgaagctgaagacCtggcctcccagatgctaaaa	11	8	11	11	0	0	4	0	2	0	2	2	4	2	4	4	2	2	3	4	2	4	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:202744779C>A	ENST00000450471.2	+	12	1173	c.1087C>A	c.(1087-1089)Ctg>Atg	p.L363M	CDK15_ENST00000374598.4_Missense_Mutation_p.L363M|CDK15_ENST00000434439.1_Missense_Mutation_p.L363M|CDK15_ENST00000260967.2_Missense_Mutation_p.L312M|CDK15_ENST00000410091.3_Missense_Mutation_p.L312M	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	363	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	AGCTGAAGACCTGGCCTCCCA	0.507													8	29					1.11149e-13	2.3188e-13	1	0	A	202744779	C	A	202744779	3	1	279	1	0	0	0	0	1	0	0	0	3160	680	24	4	976	4	CDK15	2	202744779	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	23173122	202744779	40454594	28	49978											
RNF25	64320	broad.mit.edu	37	chr2	219528721	219528721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggcccagggactccctccGagtaccaggccggtatgctc	7	6	12	16	2	0	0	0	0	0	0	3	2	2	1	5	4	2	3	5	4	2	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:219528721G>A	ENST00000295704.2	-	10	1779	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	447					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACTCCCTCCGAGTACCAGGC	0.607													9	95					0	0	0	0	A	219528721	G	A	219528721	3	1	279	1	0	0	0	0	1	0	0	0	13570	1057	37	1	44	1	RNF25	2	219528721	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	16783942	219528721	23670652	29	49979											
COL4A4	1286	broad.mit.edu	37	chr2	227924130	227924130	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctcataccttcagcccCtggacatcccggatcacctc	8	8	6	19	1	3	0	3	0	0	0	5	2	4	2	6	2	3	0	6	2	1	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:227924130C>G	ENST00000396625.3	-	28	2581	c.2374G>C	c.(2374-2376)Ggg>Cgg	p.G792R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G792R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	792	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTTCAGCCCCTGGACATCCC	0.537													4	151					0	0	0	0	G	227924130	C	G	227924130	3	3	279	1	0	0	0	0	1	0	0	0	3723	681	24	4	2782	4	COL4A4	2	227924130	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	8395409	227924130	15275243	30	49980											
DIS3L2	129563	broad.mit.edu	37	chr2	233198650	233198650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttcacctcgcccatccGccgctttgccgacgtcctgg	5	9	8	19	5	1	0	1	0	0	0	4	1	3	0	6	1	1	1	6	1	0	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:233198650G>A	ENST00000325385.7	+	17	2387	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Missense_Mutation_p.R704H	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	704							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TCGCCCATCCGCCGCTTTGCC	0.667													10	94					0	0	0	0	A	233198650	G	A	233198650	3	1	279	1	0	0	0	0	1	0	0	0	4574	1087	38	1	2173	1	DIS3L2	2	233198650	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	5274520	233198650	10000723	31	49981											
MTERFD2	130916	broad.mit.edu	37	chr2	242035433	242035433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctattcctcctcgtcgtcgtCctcatcctcatcattgtcct	4	16	4	17	3	3	0	3	0	0	0	11	0	8	0	5	0	0	0	5	0	1	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:242035433C>T	ENST00000391980.2	-	4	1184	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	MTERFD2_ENST00000406593.1_Missense_Mutation_p.D188N|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000488567.1_5'UTR	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	376										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		tcgtcgtcgtcctcatcctca	0.483													5	68					0	0	0	0	T	242035433	C	T	242035433	3	4	279	1	0	0	0	0	1	0	0	0	9990	855	30	2	23	2	MTERFD2	2	242035433	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	8836783	242035433	1163940	32	49982											
GNL3	26354	broad.mit.edu	37	chr3	52723170	52723170	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgtcctcaggtagaagaGgccattgtccagagtggaca	12	8	13	8	0	1	4	1	0	0	4	3	5	3	5	3	3	0	1	3	3	2	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:52723170G>A	ENST00000394799.2	+	6	663	c.453G>A	c.(451-453)gaG>gaA	p.E151E	GNL3_ENST00000418458.1_Silent_p.E163E	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	163					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AGGTAGAAGAGGCCATTGTCC	0.448													13	83					0	0	0	0	A	52723170	G	A	52723170	2	1	279	1	0	0	0	0	0	0	0	1	6588	991	35	4		4	GNL3	3	52723170	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08		52723170	145299260	33	49983											
ZNF654	55279	broad.mit.edu	37	chr3	88188518	88188518	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaggcatgcccaggctcatCagaaaaaaggcagttttgca	14	8	10	9	0	2	1	2	0	0	1	2	1	2	1	1	3	2	5	1	3	4	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:88188518C>T	ENST00000309495.5	+	1	265	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CCAGGCTCATCAGAAAAAAGG	0.383													10	21					0	0	0	0	T	88188518	C	T	88188518	4	4	279	1	0	0	0	0	0	1	0	0	18162	827	29	2	60	2	ZNF654	3	88188518	Nonsense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	35465348	88188518	109833912	34	49984											
CEP97	79598	broad.mit.edu	37	chr3	101476483	101476483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgattcttctagaacccGtcattcaagtgaattcttgg	9	16	8	8	1	5	3	2	2	3	1	5	3	5	3	1	1	1	1	1	1	4	7			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:101476483G>A	ENST00000341893.3	+	9	1785	c.1033G>A	c.(1033-1035)Gtc>Atc	p.V345I	CEP97_ENST00000494050.1_Intron|CEP97_ENST00000327230.4_Missense_Mutation_p.V345I			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	345	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TCTAGAACCCGTCATTCAAGT	0.323													10	45					0	0	0	0	A	101476483	G	A	101476483	3	1	279	1	0	0	0	0	1	0	0	0	3292	1145	40	1	1067	1	CEP97	3	101476483	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	13287965	101476483	96545947	35	49985											
CD200R1	131450	broad.mit.edu	37	chr3	112648206	112648206	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtacagttggtttccttggtCtcatttgtttctttcttgta	4	22	8	7	0	3	0	1	0	3	0	5	0	4	0	1	2	1	5	1	2	2	9			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:112648206C>G	ENST00000471858.1	-	3	514	c.282G>C	c.(280-282)gaG>gaC	p.E94D	CD200R1_ENST00000295863.4_Missense_Mutation_p.E72D|CD200R1_ENST00000308611.3_Missense_Mutation_p.E117D|CD200R1_ENST00000490004.1_Missense_Mutation_p.E94D|CD200R1_ENST00000440122.2_Missense_Mutation_p.E117D	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	94	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TTTCCTTGGTCTCATTTGTTT	0.448													8	109					0	0	0	0	G	112648206	C	G	112648206	3	3	279	1	0	0	0	0	1	0	0	0	3010	912	32	2	762	2	CD200R1	3	112648206	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	11171723	112648206	85374224	36	49986											
KIAA2018	205717	broad.mit.edu	37	chr3	113375488	113375488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccccattctctgctctgAattagaagatgtctttccaa	10	15	5	11	0	3	3	0	1	3	2	6	3	5	3	3	0	1	1	3	0	5	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:113375488A>G	ENST00000316407.4	-	7	5451	c.5041T>C	c.(5041-5043)Tca>Cca	p.S1681P	KIAA2018_ENST00000478658.1_Missense_Mutation_p.S1681P|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1681					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTCTGCTCTGAATTAGAAGAT	0.413													100	38					0	0	0	0	G	113375488	A	G	113375488	3	3	279	1	0	0	0	0	1	0	0	0	8319	246	9	5	1700	5	KIAA2018	3	113375488	Missense_Mutation	SNP	A	TCGA-CV-7101-01A-11D-2012-08	727282	113375488	84646942	37	49987											
EAF2	55840	broad.mit.edu	37	chr3	121563320	121563320	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgacttcaaacctgcttctAttgacacttcttctgaagga	11	14	6	10	0	4	3	1	3	3	0	4	4	4	4	1	1	2	1	1	1	3	6			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:121563320A>G	ENST00000273668.2	+	2	198	c.127A>G	c.(127-129)Att>Gtt	p.I43V	EAF2_ENST00000451944.2_Missense_Mutation_p.I43V	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	43	Necessary for interaction with ELL.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		ACCTGCTTCTATTGACACTTC	0.318													12	85					0	0	0	0	G	121563320	A	G	121563320	3	3	279	1	0	0	0	0	1	0	0	0	4912	449	16	5	133	5	EAF2	3	121563320	Missense_Mutation	SNP	A	TCGA-CV-7101-01A-11D-2012-08	8187832	121563320	76459110	38	49988											
PARP15	165631	broad.mit.edu	37	chr3	122345843	122345843	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaagagacctctctgcAtcactgaactttcagtccac	15	9	5	12	0	3	2	2	1	1	1	5	3	4	2	2	0	2	1	2	0	4	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:122345843A>G	ENST00000464300.2	+	9	1467	c.1401A>G	c.(1399-1401)gcA>gcG	p.A467A	PARP15_ENST00000493645.1_Intron|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000310366.4_Silent_p.A233A	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	445	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ACCTCTCTGCATCACTGAACT	0.353													8	47					0	0	0	0	G	122345843	A	G	122345843	2	3	279	1	0	0	0	0	0	0	0	1	11530	204	8	5		5	PARP15	3	122345843	Silent	SNP	A	TCGA-CV-7101-01A-11D-2012-08	782523	122345843	75676587	39	49989											
STAG1	10274	broad.mit.edu	37	chr3	136221571	136221571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgggtattatcctgatGaatactgaggtttaaggcaa	11	14	10	6	0	1	3	0	3	1	0	3	3	2	3	1	3	1	3	1	3	6	5			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:136221571G>T	ENST00000383202.2	-	8	983	c.727C>A	c.(727-729)Cat>Aat	p.H243N	STAG1_ENST00000236698.5_Missense_Mutation_p.H243N|STAG1_ENST00000434713.2_Missense_Mutation_p.H17N	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	243					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTATCCTGATGAATACTGAGG	0.363													9	60					5.4927e-09	1.1031e-08	1	0	T	136221571	G	T	136221571	3	4	279	1	0	0	0	0	1	0	0	0	15332	1290	45	2	3157	2	STAG1	3	136221571	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	13875728	136221571	61800859	40	49990											
DBR1	51163	broad.mit.edu	37	chr3	137889026	137889034	+	Splice_Site	DEL	CAAAATGAC	CAAAATGAC	-																															tgaattataaggggggcactCaaaatgaccttagattgaag																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:137889026_137889034delCAAAATGAC	ENST00000260803.4	-	4	557_565	c.403_splice	c.e4-1	p.GHFE135_splice	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	135						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GGGGGGCACTCAAAATGACCTTAGATTGA	0.316													9	103	---	---	---	---					-	137889034	CAAAATGAC	-	137889026	8	5	279	1	0	1	0	1	0	0	1	0	4290	835	29	0	1242	0	DBR1	3	137889026	Splice_Site	DEL	CAAAATGAC	TCGA-CV-7101-01A-11D-2012-08	1667455	137889026	60133404	41	49991											
ATR	545	broad.mit.edu	37	chr3	142278147	142278147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccttatcaatggttgcctCcaggtccagtttctgaacag	9	12	8	12	0	2	1	1	1	1	0	4	1	4	1	4	2	2	2	4	2	3	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:142278147C>T	ENST00000350721.4	-	7	1799	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	ATR_ENST00000383101.3_Missense_Mutation_p.E496K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	560					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATGGTTGCCTCCAGGTCCAGT	0.348								Other conserved DNA damage response genes					7	47					0	0	0	0	T	142278147	C	T	142278147	3	4	279	1	0	0	0	0	1	0	0	0	1208	864	30	2	6420	2	ATR	3	142278147	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	4389121	142278147	55744283	42	49992											
PLD1	5337	broad.mit.edu	37	chr3	171451288	171451288	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtatctttgtcaagtaatcTtccagttgtttctgtaatgc	9	18	7	7	0	4	0	1	0	3	0	5	0	5	0	1	0	1	5	1	0	4	7			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:171451288T>C	ENST00000356327.5	-	6	622	c.552A>G	c.(550-552)gaA>gaG	p.E184E	PLD1_ENST00000342215.6_Silent_p.E184E|PLD1_ENST00000340989.4_Silent_p.E184E|PLD1_ENST00000351298.4_Silent_p.E184E	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	184	PX.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCAAGTAATCTTCCAGTTGTT	0.284													4	37					0	0	0	0	C	171451288	T	C	171451288	2	2	279	1	0	0	0	0	0	0	0	1	12117	1606	56	5		5	PLD1	3	171451288	Silent	SNP	T	TCGA-CV-7101-01A-11D-2012-08	29173141	171451288	26571142	43	49993											
MFN1	55669	broad.mit.edu	37	chr3	179082171	179082171	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgttttggtcgcaaactCtgaatcaacactaatgaata	13	14	6	8	1	2	2	1	2	1	0	3	2	2	2	0	1	2	2	0	1	6	5			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:179082171C>G	ENST00000471841.1	+	6	749	c.623C>G	c.(622-624)tCt>tGt	p.S208C	MFN1_ENST00000263969.5_Missense_Mutation_p.S208C|MFN1_ENST00000280653.7_Missense_Mutation_p.S208C	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	208					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GTCGCAAACTCTGAATCAACA	0.373													3	36					0	0	0	0	G	179082171	C	G	179082171	3	3	279	1	0	0	0	0	1	0	0	0	9592	913	32	2	641	2	MFN1	3	179082171	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	7630883	179082171	18940259	44	49994											
LAMP3	27074	broad.mit.edu	37	chr3	182871533	182871533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatacagagtctgcttccGtttagaacctgataaattcc	11	15	6	9	1	1	3	0	1	1	2	3	3	3	3	3	0	3	2	3	0	6	8	rs140803277	by1000genomes	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:182871533G>A	ENST00000265598.3	-	2	951	c.696C>T	c.(694-696)aaC>aaT	p.N232N	LAMP3_ENST00000466939.1_Silent_p.N208N	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	232					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GTCTGCTTCCGTTTAGAACCT	0.502													12	121					0	0	0	0	A	182871533	G	A	182871533	2	1	279	1	0	0	0	0	0	0	0	1	8672	1136	40	1		1	LAMP3	3	182871533	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	3789362	182871533	15150897	45	49995											
EIF4G1	1981	broad.mit.edu	37	chr3	184046477	184046477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacatcccccacgtgtggCtctacctagcggaactggta	8	10	10	13	2	1	1	0	1	1	0	2	2	2	2	3	3	3	2	3	3	4	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:184046477C>T	ENST00000342981.4	+	26	4429	c.4015C>T	c.(4015-4017)Ctc>Ttc	p.L1339F	EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1345F|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L1338F|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1143F|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1251F|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1345F|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1142F|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1299F|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1298F|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1174F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1345F|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1338F|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1252F|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1175F	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1338	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCACGTGTGGCTCTACCTAGC	0.532													8	189					0	0	0	0	T	184046477	C	T	184046477	3	4	279	1	0	0	0	0	1	0	0	0	5074	797	28	4	4110	4	EIF4G1	3	184046477	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	1174944	184046477	13975953	46	49996											
FGF12	2257	broad.mit.edu	37	chr3	191888366	191888366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcctgattcttgctggCggtacagtgtggaagaatag	8	11	14	8	2	1	2	0	1	1	1	2	3	1	3	1	4	2	2	1	4	4	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:191888366C>T	ENST00000454309.2	-	4	1319	c.494G>A	c.(493-495)cGc>cAc	p.R165H	FGF12_ENST00000450716.1_Missense_Mutation_p.R103H|FGF12_ENST00000445105.1_Missense_Mutation_p.R103H|FGF12_ENST00000264730.3_Missense_Mutation_p.R103H|FGF12_ENST00000430714.1_Missense_Mutation_p.R66H	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	165					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTCTTGCTGGCGGTACAGTGT	0.393													13	293					0	0	0	0	T	191888366	C	T	191888366	3	4	279	1	0	0	0	0	1	0	0	0	5886	768	27	1	245	1	FGF12	3	191888366	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	7841889	191888366	6134064	47	49997											
ZDHHC19	131540	broad.mit.edu	37	chr3	195925231	195925231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttggggctggggggttgaGagcagagggggacattggag	7	7	24	3	0	0	2	0	1	0	2	0	5	0	4	0	9	1	4	0	9	0	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:195925231G>A	ENST00000296326.3	-	7	944	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	289						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GGGGGGTTGAGAGCAGAGGGG	0.632													9	50					0	0	0	0	A	195925231	G	A	195925231	3	1	279	1	0	0	0	0	1	0	0	0	17704	942	33	2	68	2	ZDHHC19	3	195925231	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	4036865	195925231	2097199	48	49998											
SENP5	205564	broad.mit.edu	37	chr3	196612534	196612534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagacctaggacagaccCacaaccttctgactttccca	12	8	5	16	0	2	3	1	1	1	2	3	4	3	4	4	1	1	0	4	1	2	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:196612534C>T	ENST00000323460.5	+	2	731	c.482C>T	c.(481-483)cCa>cTa	p.P161L	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.P161L	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	161					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AGGACAGACCCACAACCTTCT	0.468													5	61					0	0	0	0	T	196612534	C	T	196612534	3	4	279	1	0	0	0	0	1	0	0	0	14136	594	21	4	484	4	SENP5	3	196612534	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	687303	196612534	1409896	49	49999											
WFS1	7466	broad.mit.edu	37	chr4	6302536	6302536	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgtcagcaacctcaccatCgacttcttcgccttcttcat	8	13	4	16	3	5	0	3	0	2	0	8	1	5	0	3	0	2	1	3	0	1	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:6302536C>T	ENST00000226760.1	+	8	1184	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	WFS1_ENST00000503569.1_Silent_p.I338I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	338					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		ACCTCACCATCGACTTCTTCG	0.562													22	55					0	0	0	0	T	6302536	C	T	6302536	2	4	279	1	0	0	0	0	0	0	0	1	17456	874	31	1		1	WFS1	4	6302536	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08		6302536	184851740	50	50000											
TMEM150C	441027	broad.mit.edu	37	chr4	83411227	83411227	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatacagaggaccacacaGagagtgatagatgccgacag	16	4	13	8	1	0	4	0	1	0	3	0	8	0	6	2	2	2	0	2	2	2	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:83411227G>A	ENST00000449862.2	-	7	846	c.528C>T	c.(526-528)ctC>ctT	p.L176L	TMEM150C_ENST00000515780.1_Silent_p.L176L	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	176						integral to membrane				ovary(1)	1						GGACCACACAGAGAGTGATAG	0.463													17	33					0	0	0	0	A	83411227	G	A	83411227	2	1	279	1	0	0	0	0	0	0	0	1	16163	929	33	2		2	TMEM150C	4	83411227	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	77108691	83411227	107743049	51	50001											
FAM13A	10144	broad.mit.edu	37	chr4	89827587	89827587	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcctcttgttaaaaggatGggcagggagttcttataata	13	12	11	5	0	2	0	0	0	2	0	2	2	2	2	1	3	1	3	1	3	6	6			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:89827587G>C	ENST00000264344.5	-	6	993	c.786C>G	c.(784-786)ccC>ccG	p.P262P	FAM13A_ENST00000511976.1_Silent_p.P53P|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	262					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTAAAAGGATGGGCAGGGAGT	0.368													20	258					0	0	0	0	C	89827587	G	C	89827587	2	2	279	1	0	0	0	0	0	0	0	1	5493	1335	47	4		4	FAM13A	4	89827587	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	6416360	89827587	101326689	52	50002											
GRID2	2895	broad.mit.edu	37	chr4	94145828	94145828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgcttttcataagaagctgGaggaccgaaagtggcacagc	13	8	12	8	1	1	1	1	0	0	1	1	4	1	3	1	3	3	3	1	3	3	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:94145828G>A	ENST00000282020.4	+	7	1285	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	GRID2_ENST00000510992.1_Missense_Mutation_p.E248K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	343					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TAAGAAGCTGGAGGACCGAAA	0.443													10	18					0	0	0	0	A	94145828	G	A	94145828	3	1	279	1	0	0	0	0	1	0	0	0	6822	1175	41	2	1053	2	GRID2	4	94145828	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	4318241	94145828	97008448	53	50003											
QRFPR	84109	broad.mit.edu	37	chr4	122250599	122250599	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgccatcactgaatgctTctcctttggtttcctccact	5	17	6	13	0	2	1	1	1	1	0	5	1	4	1	4	1	2	3	4	1	1	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:122250599T>G	ENST00000394427.2	-	6	1577	c.1166A>C	c.(1165-1167)gAa>gCa	p.E389A	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	389						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ACTGAATGCTTCTCCTTTGGT	0.428													13	143					0	0	0	0	G	122250599	T	G	122250599	3	3	279	1	0	0	0	0	1	0	0	0	12960	1783	62	5	133	5	QRFPR	4	122250599	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08	28104771	122250599	68903677	54	50004											
SETD7	80854	broad.mit.edu	37	chr4	140439120	140439120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acttggatacgtggttatagGgctcaggcacatcaatgacc	11	10	11	9	1	2	1	2	1	0	0	2	2	2	2	1	4	1	3	1	4	4	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:140439120G>C	ENST00000274031.3	-	7	1475	c.839C>G	c.(838-840)cCc>cGc	p.P280R	SETD7_ENST00000506866.2_Missense_Mutation_p.P280R	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	280	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					GTGGTTATAGGGCTCAGGCAC	0.493													7	84					0	0	0	0	C	140439120	G	C	140439120	3	2	279	1	0	0	0	0	1	0	0	0	14223	1232	43	4	269	4	SETD7	4	140439120	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	18188521	140439120	50715156	55	50005											
TIGD4	201798	broad.mit.edu	37	chr4	153692050	153692050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caatctctgcttttttcttgCcactttccactgcatttatg	6	19	4	12	0	2	0	0	0	2	0	4	0	3	0	2	0	3	2	2	0	2	7			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:153692050C>T	ENST00000304337.2	-	2	927	c.107G>A	c.(106-108)gGc>gAc	p.G36D		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	36	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TTTTTTCTTGCCACTTTCCAC	0.363													5	62					0	0	0	0	T	153692050	C	T	153692050	3	4	279	1	0	0	0	0	1	0	0	0	15992	739	26	4	1435	4	TIGD4	4	153692050	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	13252930	153692050	37462226	56	50006											
KIAA0947	23379	broad.mit.edu	37	chr5	5465121	5465121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggaaagaagttgttctagtCcagccgtcagtgcagtttca	11	11	11	8	1	3	1	2	0	1	1	4	2	4	2	2	1	2	4	2	1	3	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:5465121C>T	ENST00000296564.7	+	13	5896	c.5674C>T	c.(5674-5676)Cca>Tca	p.P1892S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1892										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTGTTCTAGTCCAGCCGTCAG	0.468													6	27					0	0	0	0	T	5465121	C	T	5465121	3	4	279	1	0	0	0	0	1	0	0	0	8253	855	30	2	5724	2	KIAA0947	5	5465121	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08		5465121	175450139	57	50007											
CDH10	1008	broad.mit.edu	37	chr5	24593411	24593411	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcctgtatattcttcaagTaagaaaaattgattccacat	15	14	5	7	0	2	2	1	1	1	1	4	3	4	2	2	0	0	2	2	0	6	7			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:24593411T>G	ENST00000264463.4	-	2	696	c.189A>C	c.(187-189)ttA>ttC	p.L63F	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	63	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATTCTTCAAGTAAGAAAAATT	0.363										HNSCC(23;0.051)			16	94					0	0	0	0	G	24593411	T	G	24593411	3	3	279	1	0	0	0	0	1	0	0	0	3125	1635	57	5	2221	5	CDH10	5	24593411	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08	19128290	24593411	156321849	58	50008											
DEPDC1B	55789	broad.mit.edu	37	chr5	59894929	59894929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttcttctttttctctttGttggagagtttggcatctgt	4	22	9	6	0	4	1	0	0	4	1	5	2	4	1	0	2	0	4	0	2	0	7			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:59894929G>T	ENST00000265036.5	-	10	1468	c.1401C>A	c.(1399-1401)aaC>aaA	p.N467K	DEPDC1B_ENST00000453022.2_Intron|DEPDC1B_ENST00000545085.1_Intron	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	467					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTTTCTCTTTGTTGGAGAGTT	0.343													8	13					0.000157383	0.000292975	1	0	T	59894929	G	T	59894929	3	4	279	1	0	0	0	0	1	0	0	0	4477	1368	48	4	196	4	DEPDC1B	5	59894929	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	35301518	59894929	121020331	59	50009											
APC	324	broad.mit.edu	37	chr5	112176386	112176386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaggcagaagtacagatGaggctcaaggaggaaaaacc	18	3	13	7	0	1	4	1	1	0	3	1	6	1	6	1	4	2	3	1	4	6	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:112176386G>A	ENST00000457016.1	+	16	5475	c.5095G>A	c.(5095-5097)Gag>Aag	p.E1699K	APC_ENST00000257430.4_Missense_Mutation_p.E1699K|APC_ENST00000508376.2_Missense_Mutation_p.E1699K|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1699	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGTACAGATGAGGCTCAAGG	0.423		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			6	22					0	0	0	0	A	112176386	G	A	112176386	3	1	279	1	0	0	0	0	1	0	0	0	764	1291	45	2	5153	2	APC	5	112176386	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	52281457	112176386	68738874	60	50010											
SLC27A6	28965	broad.mit.edu	37	chr5	128359396	128359397	+	Frame_Shift_Ins	INS	-	-	A																															agggttggtgtattcatgtgINSaaaaaaggtaagacttctat																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:128359396_128359397insA	ENST00000262462.4	+	6	2258_2259	c.1248_1249insA	c.(1246-1251)gtaaaafs	p.VK416fs	SLC27A6_ENST00000395266.1_Frame_Shift_Ins_p.VK416fs|SLC27A6_ENST00000506176.1_Frame_Shift_Ins_p.VK416fs			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	416					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTATTCATGTGAAAAAAGGTAA	0.381													20	36	---	---	---	---					A	128359397	-	A	128359396	7	5	279	1	0	1	1	0	0	0	0	0	14618	1277	45	0	1270	0	SLC27A6	5	128359396	Frame_Shift_Ins	INS	-	TCGA-CV-7101-01A-11D-2012-08	16183010	128359396	52555864	61	50011											
ANKHD1	54882	broad.mit.edu	37	chr5	139876609	139876609	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagcaacagtctccacCatcggcagaacagattgatt	13	9	9	10	1	1	5	0	3	1	2	3	5	1	5	2	1	3	2	2	1	2	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:139876609C>G	ENST00000297183.6	+	15	2874	c.2750C>G	c.(2749-2751)cCa>cGa	p.P917R	ANKHD1_ENST00000360839.2_Missense_Mutation_p.P917R|ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P917R	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTCTCCACCATCGGCAGAA	0.413													32	44					0	0	0	0	G	139876609	C	G	139876609	3	3	279	1	0	0	0	0	1	0	0	0	628	594	21	4	2914	4	ANKHD1	5	139876609	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	11517213	139876609	41038651	62	50012											
PCDHA5	56143	broad.mit.edu	37	chr5	140201942	140201942	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgaactttttagagctggtTttgaggaaatccttagatag	12	14	10	5	1	0	3	0	1	0	2	1	5	1	4	1	2	2	2	1	2	5	7			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:140201942T>G	ENST00000529859.1	+	1	582	c.582T>G	c.(580-582)gtT>gtG	p.V194V	PCDHA5_ENST00000529619.1_Silent_p.V194V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.V194V|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGCTGGTTTTGAGGAAAT	0.353													24	38					0	0	0	0	G	140201942	T	G	140201942	2	3	279	1	0	0	0	0	0	0	0	1	11598	1828	64	5		5	PCDHA5	5	140201942	Silent	SNP	T	TCGA-CV-7101-01A-11D-2012-08	325333	140201942	40713318	63	50013											
PCDHB7	56129	broad.mit.edu	37	chr5	140553578	140553578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgtgctccatccaggacGatgtccccttcatcctgaag	8	10	9	14	1	1	1	1	1	0	0	5	3	5	2	5	1	1	1	5	1	1	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:140553578G>A	ENST00000231137.3	+	1	1336	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		388	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D388Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCCAGGACGATGTCCCCTT	0.468													5	35					0	0	0	0	A	140553578	G	A	140553578	3	1	279	1	0	0	0	0	1	0	0	0	11618	1058	37	1	1164	1	PCDHB7	5	140553578	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	351636	140553578	40361682	64	50014											
CYFIP2	26999	broad.mit.edu	37	chr5	156786087	156786087	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcatttcaagactatCtgcagactcctgggttatca	10	12	6	13	0	4	2	3	0	1	2	5	2	5	2	3	1	1	2	3	1	3	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:156786087C>A	ENST00000442283.2	+	25	2882		c.e25+1		CYFIP2_ENST00000377576.3_Silent_p.I916I|CYFIP2_ENST00000435847.2_Silent_p.I615I|CYFIP2_ENST00000347377.6_Silent_p.I916I|CYFIP2_ENST00000521420.1_Silent_p.I890I|CYFIP2_ENST00000318218.6_Silent_p.I941I|CYFIP2_ENST00000541131.1_Silent_p.I841I|CYFIP2_ENST00000522463.1_Silent_p.I720I	NM_001037333.1	NP_001032410.1	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2						apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAAGACTATCTGCAGACTCC	0.488													51	73					4.01344e-20	8.59515e-20	1	0	A	156786087	C	A	156786087	5	1	279	1	0	0	0	0	0	0	1	0	4170	903	32	2	2838	2	CYFIP2	5	156786087	Splice_Site	SNP	C	TCGA-CV-7101-01A-11D-2012-08	16232509	156786087	24129173	65	50015											
RNF145	153830	broad.mit.edu	37	chr5	158588301	158588301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatggcacaaatatcattGtgtttctcaagctgctcttt	10	15	7	9	0	3	1	2	0	2	1	4	1	3	1	0	1	2	4	0	1	3	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:158588301G>T	ENST00000424310.2	-	10	1958	c.1599C>A	c.(1597-1599)caC>caA	p.H533Q	RNF145_ENST00000519865.1_Missense_Mutation_p.H533Q|RNF145_ENST00000518802.1_Missense_Mutation_p.H563Q|RNF145_ENST00000521606.2_Missense_Mutation_p.H550Q|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000520638.1_Missense_Mutation_p.H547Q|RNF145_ENST00000274542.2_Missense_Mutation_p.H561Q	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	533						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATATCATTGTGTTTCTCAA	0.433													6	39					2.7689e-08	5.515e-08	1	0	T	158588301	G	T	158588301	3	4	279	1	0	0	0	0	1	0	0	0	13532	1368	48	4	400	4	RNF145	5	158588301	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	1802214	158588301	22326959	66	50016											
UIMC1	51720	broad.mit.edu	37	chr5	176395738	176395738	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttttctcactagcctgctCtccttggccacattcattct	6	17	4	14	0	4	0	2	0	3	0	6	0	4	0	3	1	2	1	3	1	1	6			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:176395738C>G	ENST00000377219.2	-	6	1184	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q	UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000511320.1_Missense_Mutation_p.E340Q|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000377227.4_Missense_Mutation_p.E340Q	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	340	AIR.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTAGCCTGCTCTCCTTGGCCA	0.463													43	49					0	0	0	0	G	176395738	C	G	176395738	3	3	279	1	0	0	0	0	1	0	0	0	17067	922	32	2	1181	2	UIMC1	5	176395738	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	17807437	176395738	4519522	67	50017											
GMDS	2762	broad.mit.edu	37	chr6	1742785	1742785	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtagctataacgaagtcCtccggctcatcattctgcaa	11	10	7	13	2	3	0	2	0	1	0	5	1	5	0	3	1	3	4	3	1	5	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:1742785C>A	ENST00000380815.4	-	8	1076	c.807G>T	c.(805-807)gaG>gaT	p.E269D	GMDS_ENST00000530927.1_Missense_Mutation_p.E239D	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	269					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TAACGAAGTCCTCCGGCTCAT	0.448													21	36					3.62473e-10	7.34046e-10	1	0	A	1742785	C	A	1742785	3	1	279	1	0	0	0	0	1	0	0	0	6537	680	24	4	327	4	GMDS	6	1742785	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08		1742785	169372282	68	50018											
KDM1B	221656	broad.mit.edu	37	chr6	18217997	18217997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacaaagtattttgtcactCggtggagcacagacccatgg	11	9	10	11	1	1	1	1	0	0	1	2	2	1	2	2	3	1	2	2	3	2	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:18217997C>T	ENST00000388870.2	+	21	2510	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	KDM1B_ENST00000297792.5_Missense_Mutation_p.R524W|KDM1B_ENST00000397244.1_Missense_Mutation_p.R525W|KDM1B_ENST00000546309.2_Missense_Mutation_p.R47W			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	756					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TTTTGTCACTCGGTGGAGCAC	0.478													32	39					0	0	0	0	T	18217997	C	T	18217997	3	4	279	1	0	0	0	0	1	0	0	0	8176	875	31	1	1628	1	KDM1B	6	18217997	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	16475212	18217997	152897070	69	50019											
C6orf62	81688	broad.mit.edu	37	chr6	24706378	24706378	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtactctactctggcataTaaggacggaggtgatcctct	10	11	10	10	1	3	1	0	1	3	0	4	3	4	3	1	4	2	2	1	4	4	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:24706378T>C	ENST00000378119.4	-	5	2844	c.677A>G	c.(676-678)tAt>tGt	p.Y226C	C6orf62_ENST00000378102.3_Missense_Mutation_p.Y197C|C6orf62_ENST00000540769.1_Missense_Mutation_p.Y168C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	226						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						CTCTGGCATATAAGGACGGAG	0.443													25	21					0	0	0	0	C	24706378	T	C	24706378	3	2	279	1	0	0	0	0	1	0	0	0	2390	1406	49	5	16	5	C6orf62	6	24706378	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08	6488381	24706378	146408689	70	50020											
SCGN	10590	broad.mit.edu	37	chr6	25701545	25701545	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagctggctttgtgtcttggGctgaaaatcaacccataatc	10	12	10	9	0	2	1	1	1	1	0	3	2	2	1	1	2	2	3	1	2	4	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:25701545G>T	ENST00000377961.2	+	11	981	c.813G>T	c.(811-813)ggG>ggT	p.G271G	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	271	EF-hand 6.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGTGTCTTGGGCTGAAAATCA	0.463													24	34					7.87624e-14	1.65744e-13	1	0	T	25701545	G	T	25701545	2	4	279	1	0	0	0	0	0	0	0	1	13990	1190	42	4		4	SCGN	6	25701545	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	995167	25701545	145413522	71	50021											
HIST1H2AK	8330	broad.mit.edu	37	chr6	27805943	27805943	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggatctcggcggttaGgtactccaacaccgccgcca	8	8	10	15	4	1	0	0	0	1	0	4	1	3	1	5	4	2	2	5	4	3	3	rs144042626		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:27805943G>C	ENST00000330180.2	-	1	174	c.175C>G	c.(175-177)Cta>Gta	p.L59V		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	59					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCGGCGGTTAGGTACTCCAAC	0.667													12	91					0	0	0	0	C	27805943	G	C	27805943	3	2	279	1	0	0	0	0	1	0	0	0	7187	991	35	4	221	4	HIST1H2AK	6	27805943	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	2104398	27805943	143309124	72	50022											
TNXB	7148	broad.mit.edu	37	chr6	32020624	32020624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactgcacagtgaaggagtCgaagcggccctgggggatgg	9	6	18	8	2	0	1	0	1	0	0	1	4	0	3	1	5	3	2	1	5	3	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr6:32020624C>T	ENST00000375244.3	-	26	9139	c.8938G>A	c.(8938-8940)Gac>Aac	p.D2980N	TNXB_ENST00000375247.2_Missense_Mutation_p.D2978N			P22105	TENX_HUMAN	tenascin XB	3025					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTGAAGGAGTCGAAGCGGCCC	0.701													29	20					0	0	0	0	T	32020624	C	T	32020624	3	4	279	1	0	0	0	0	1	0	0	0	16440	884	31	1	5857	1	TNXB	6	32020624	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	4214681	32020624	139094443	73	50023											
ENPP4	22875	broad.mit.edu	37	chr6	46107712	46107712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaggaaaacagatcaaGtgctgctgctatgtggcctg	10	10	12	9	0	2	1	2	0	0	1	2	2	2	2	1	2	4	4	1	2	4	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:46107712G>A	ENST00000321037.4	+	2	622	c.392G>A	c.(391-393)aGt>aAt	p.S131N		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	131						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						AACAGATCAAGTGCTGCTGCT	0.413													37	54					0	0	0	0	A	46107712	G	A	46107712	3	1	279	1	0	0	0	0	1	0	0	0	5170	1029	36	4	394	4	ENPP4	6	46107712	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	14087088	46107712	125007355	74	50024											
KIAA1586	57691	broad.mit.edu	37	chr6	56917579	56917579	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagaaaataatgaagtgagCaaaaatcactgcagattgtc	19	8	8	6	0	1	4	1	2	0	2	2	4	1	4	0	0	2	2	0	0	6	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:56917579C>T	ENST00000370733.4	+	4	489	c.282C>T	c.(280-282)agC>agT	p.S94S	KIAA1586_ENST00000488682.1_3'UTR|KIAA1586_ENST00000545356.1_Silent_p.S67S	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	94							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGAAGTGAGCAAAAATCACT	0.338													10	42					0	0	0	0	T	56917579	C	T	56917579	2	4	279	1	0	0	0	0	0	0	0	1	8296	709	25	4		4	KIAA1586	6	56917579	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08	10809867	56917579	114197488	75	50025											
LGSN	51557	broad.mit.edu	37	chr6	63990178	63990178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaagtccatctaagccGgcagcaacagttgcagccag	12	7	10	12	1	1	1	0	1	1	0	2	1	2	1	3	1	5	4	3	1	4	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:63990178G>A	ENST00000370657.4	-	4	1311	c.1278C>T	c.(1276-1278)gcC>gcT	p.A426A	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	426					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CATCTAAGCCGGCAGCAACAG	0.453													14	53					0	0	0	0	A	63990178	G	A	63990178	2	1	279	1	0	0	0	0	0	0	0	1	8813	1103	39	1		1	LGSN	6	63990178	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	7072599	63990178	107124889	76	50026											
HTR1E	3354	broad.mit.edu	37	chr6	87725635	87725635	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggtgcgttttatatccccTtgactttgatactgattctc	6	18	8	9	1	1	3	0	3	1	0	3	3	2	3	2	1	2	1	2	1	3	7			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:87725635T>A	ENST00000305344.4	+	2	1286	c.583T>A	c.(583-585)Ttg>Atg	p.L195M	HTR1E_ENST00000369584.1_Missense_Mutation_p.L195M	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	195					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.P194fs*20(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TTATATCCCCTTGACTTTGAT	0.507													9	34					0	0	0	0	A	87725635	T	A	87725635	3	1	279	1	0	0	0	0	1	0	0	0	7492	1606	56	5	585	5	HTR1E	6	87725635	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08	23735457	87725635	83389432	77	50027											
SIM1	6492	broad.mit.edu	37	chr6	100838914	100838914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggtcacctgattcactggCcgacccagggtctggagaac	8	8	12	13	2	3	2	2	1	1	1	4	4	3	2	3	4	1	0	3	4	1	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:100838914C>T	ENST00000369208.3	-	12	2406	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	SIM1_ENST00000262901.4_Missense_Mutation_p.A542T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	542	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GATTCACTGGCCGACCCAGGG	0.438													4	55					0	0	0	0	T	100838914	C	T	100838914	3	4	279	1	0	0	0	0	1	0	0	0	14411	739	26	4	680	4	SIM1	6	100838914	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	13113279	100838914	70276153	78	50028											
SLC16A10	117247	broad.mit.edu	37	chr6	111498539	111498558	+	Frame_Shift_Del	DEL	ATTGTCACTGCTGGCAGCAG	ATTGTCACTGCTGGCAGCAG	-																															gccttggactggtgaatggcAttgtcactgctggcagcagt																								rs116051634	by1000genomes	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:111498539_111498558delATTGTCACTGCTGGCAGCAG	ENST00000368851.5	+	3	788_807	c.613_632delATTGTCACTGCTGGCAGCAG	c.(613-633)tfs	p.IVTAGSS205fs	SLC16A10_ENST00000368850.3_5'UTR|SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	205					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	p.G209G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GGTGAATGGCATTGTCACTGCTGGCAGCAGTGTCTTCACA	0.482													7	64	---	---	---	---					-	111498558	ATTGTCACTGCTGGCAGCAG	-	111498539	7	5	279	1	0	1	0	1	0	0	0	0	14491	217	8	0	623	0	SLC16A10	6	111498539	Frame_Shift_Del	DEL	ATTGTCACTGCTGGCAGCAG	TCGA-CV-7101-01A-11D-2012-08	10659625	111498539	59616528	79	50029											
LAMA4	3910	broad.mit.edu	37	chr6	112510314	112510314	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtactgttatttttacttAtggttgggcagtccatgcct	7	18	9	7	0	0	0	0	0	0	0	1	0	1	0	2	2	3	4	2	2	4	7			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:112510314A>G	ENST00000230538.7	-	7	1209	c.812T>C	c.(811-813)aTa>aCa	p.I271T	LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000424408.2_Intron	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	271	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATTTTTACTTATGGTTGGGCA	0.468													4	21					0	0	0	0	G	112510314	A	G	112510314	3	3	279	1	0	0	0	0	1	0	0	0	8661	449	16	5	4791	5	LAMA4	6	112510314	Missense_Mutation	SNP	A	TCGA-CV-7101-01A-11D-2012-08	1011775	112510314	58604753	80	50030											
OLIG3	167826	broad.mit.edu	37	chr6	137815177	137815177	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgcatcatatcgcccTgcgtggacgagaccgagttg	7	11	11	12	4	3	1	1	0	2	1	4	4	3	2	2	1	2	2	2	1	1	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:137815177T>C	ENST00000367734.2	-	1	354	c.131A>G	c.(130-132)cAg>cGg	p.Q44R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CATATCGCCCTGCGTGGACGA	0.607													35	63					0	0	0	0	C	137815177	T	C	137815177	3	2	279	1	0	0	0	0	1	0	0	0	10933	1580	55	5	691	5	OLIG3	6	137815177	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08	25304863	137815177	33299890	81	50031											
ECT2L	345930	broad.mit.edu	37	chr6	139167765	139167769	+	Frame_Shift_Del	DEL	CTCTC	CTCTC	-																															tgatgacagatcttcatatgCtctccggccacacttcatgt																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:139167765_139167769delCTCTC	ENST00000423192.1	+	7	1015_1019	c.854_858delCTCTC	c.(853-858)gfs	p.AL285fs	ECT2L_ENST00000367682.2_Frame_Shift_Del_p.AL285fs|ECT2L_ENST00000541398.1_Frame_Shift_Del_p.AL216fs			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	285					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCTTCATATGCTCTCCGGCCACACT	0.376			"N, Splice, Mis"		ETP ALL								10	181	---	---	---	---					-	139167769	CTCTC	-	139167765	7	5	279	1	0	1	0	1	0	0	0	0	4938	797	28	0	876	0	ECT2L	6	139167765	Frame_Shift_Del	DEL	CTCTC	TCGA-CV-7101-01A-11D-2012-08	1352588	139167765	31947302	82	50032											
CDCA7L	55536	broad.mit.edu	37	chr7	21947962	21947962	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaactgtttttatctggtTtgttggccagcttcttggtg	6	18	11	6	0	2	1	0	0	2	1	2	1	2	1	1	3	2	4	1	3	3	7			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:21947962T>G	ENST00000406877.3	-	4	746	c.467A>C	c.(466-468)aAa>aCa	p.K156T	CDCA7L_ENST00000356195.5_Missense_Mutation_p.K122T|CDCA7L_ENST00000373934.4_Missense_Mutation_p.K110T|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	156					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TTTATCTGGTTTGTTGGCCAG	0.423													4	59					0	0	0	0	G	21947962	T	G	21947962	3	3	279	1	0	0	0	0	1	0	0	0	3120	1841	64	5	925	5	CDCA7L	7	21947962	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08		21947962	137190701	83	50033											
STK31	56164	broad.mit.edu	37	chr7	23809341	23809341	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctagagaagactgagtCaagtgtctgcaaagagctgg	14	8	12	7	0	2	4	1	1	1	3	3	5	3	4	1	1	2	2	1	1	5	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:23809341C>A	ENST00000354639.3	+	13	2074	c.1610C>A	c.(1609-1611)tCa>tAa	p.S537*	STK31_ENST00000428484.1_Nonsense_Mutation_p.S537*|STK31_ENST00000433467.2_Nonsense_Mutation_p.S560*|STK31_ENST00000355870.3_Nonsense_Mutation_p.S560*|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	560							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGACTGAGTCAAGTGTCTGC	0.378													36	96					3.21399e-22	6.97567e-22	1	0	A	23809341	C	A	23809341	4	1	279	1	0	0	0	0	0	1	0	0	15386	838	29	2	1729	2	STK31	7	23809341	Nonsense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	1861379	23809341	135329322	84	50034											
HECW1	23072	broad.mit.edu	37	chr7	43590145	43590145	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagtggcgggtggagcgCggcgtggtacagcagaccga	8	5	20	8	5	0	2	0	1	0	1	0	4	0	3	1	5	3	2	1	5	2	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:43590145C>T	ENST00000395891.1	+	27	4955	c.4350C>T	c.(4348-4350)cgC>cgT	p.R1450R	HECW1_ENST00000453890.1_Silent_p.R1416R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1450	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGGTGGAGCGCGGCGTGGTAC	0.627													8	6					0	0	0	0	T	43590145	C	T	43590145	2	4	279	1	0	0	0	0	0	0	0	1	7092	755	27	1		1	HECW1	7	43590145	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08	19780804	43590145	115548518	85	50035											
SEMA3C	10512	broad.mit.edu	37	chr7	80432017	80432017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttctgggccgtcttcatCtgttaccgagcacaccagcc	6	12	9	14	2	4	0	1	0	3	0	4	1	4	0	4	1	3	3	4	1	1	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:80432017C>T	ENST00000265361.3	-	9	1441	c.880G>A	c.(880-882)Gat>Aat	p.D294N	SEMA3C_ENST00000536800.1_Missense_Mutation_p.D146N|SEMA3C_ENST00000419255.2_Missense_Mutation_p.D294N|SEMA3C_ENST00000544525.1_Missense_Mutation_p.D312N	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	294	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCGTCTTCATCTGTTACCGAG	0.383													6	69					0	0	0	0	T	80432017	C	T	80432017	3	4	279	1	0	0	0	0	1	0	0	0	14113	913	32	2	1415	2	SEMA3C	7	80432017	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	36841872	80432017	78706646	86	50036											
PCLO	27445	broad.mit.edu	37	chr7	82784624	82784624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaatctttcctggccCaggctgctgaactggagtct	7	11	12	11	0	2	1	0	1	2	0	3	3	3	3	2	4	3	3	2	4	2	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:82784624C>A	ENST00000423517.2	-	2	1670	c.1333G>T	c.(1333-1335)Ggg>Tgg	p.G445W	PCLO_ENST00000333891.8_Missense_Mutation_p.G445W	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	396	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCTGGCCCAGGCTGCTGA	0.577													46	87					1.8453e-21	3.98716e-21	1	0	A	82784624	C	A	82784624	3	1	279	1	0	0	0	0	1	0	0	0	11654	594	21	4	14208	4	PCLO	7	82784624	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	2352607	82784624	76354039	87	50037											
AKAP9	10142	broad.mit.edu	37	chr7	91691800	91691800	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggcccagttgaacaaCgtaagtattttcagaatttg	13	11	10	7	1	1	2	1	1	0	1	1	2	1	2	1	2	2	4	1	2	5	6			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:91691800C>T	ENST00000359028.2	+	25	6238	c.6013_splice	c.e25+1	p.Q2005_splice	AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000356239.3_Splice_Site_p.Q1993_splice|AKAP9_ENST00000358100.2_Splice_Site_p.Q2005_splice			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2005	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGTTGAACAACGTAAGTATTT	0.393			T	BRAF	papillary thyroid								5	56					0	0	0	0	T	91691800	C	T	91691800	5	4	279	1	0	0	0	0	0	0	1	0	459	550	19	1	6071	1	AKAP9	7	91691800	Splice_Site	SNP	C	TCGA-CV-7101-01A-11D-2012-08	8907176	91691800	67446863	88	50038											
COL1A2	1278	broad.mit.edu	37	chr7	94054509	94054509	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtagtcctggagtcaaCggtgctcctggtgaagctgg	6	10	17	8	1	1	1	1	1	0	0	3	2	3	2	2	5	3	3	2	5	3	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:94054509C>T	ENST00000297268.6	+	42	3225	c.2754C>T	c.(2752-2754)aaC>aaT	p.N918N		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	918					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGAGTCAACGGTGCTCCTG	0.522										HNSCC(75;0.22)			4	43					0	0	0	0	T	94054509	C	T	94054509	2	4	279	1	0	0	0	0	0	0	0	1	3708	535	19	1		1	COL1A2	7	94054509	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08	2362709	94054509	65084154	89	50039											
TRRAP	8295	broad.mit.edu	37	chr7	98567840	98567840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggccgatagccacgacCgtgccgccttcgccatggtc	6	7	11	17	5	0	0	0	0	0	0	2	2	0	0	7	2	2	0	7	2	1	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:98567840C>T	ENST00000359863.4	+	51	7806	c.7597C>T	c.(7597-7599)Cgt>Tgt	p.R2533C	TRRAP_ENST00000355540.3_Missense_Mutation_p.R2515C|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2515C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2533					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAGCCACGACCGTGCCGCCTT	0.632													22	74					0	0	0	0	T	98567840	C	T	98567840	3	4	279	1	0	0	0	0	1	0	0	0	16696	652	23	1	7737	1	TRRAP	7	98567840	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	4513331	98567840	60570823	90	50040											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99128782	99128782	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtgttaagaagaaaatttCagaatattcagaagcagaca	20	9	8	4	0	2	5	2	0	0	5	2	5	2	5	0	0	1	2	0	0	8	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:99128782C>G	ENST00000394170.2	+	7	1681	c.1430C>G	c.(1429-1431)tCa>tGa	p.S477*	ZKSCAN5_ENST00000451158.1_Nonsense_Mutation_p.S477*|ZKSCAN5_ENST00000326775.5_Nonsense_Mutation_p.S477*	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	477					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGAAAATTTCAGAATATTCA	0.323													11	145					0	0	0	0	G	99128782	C	G	99128782	4	3	279	1	0	0	0	0	0	1	0	0	17785	838	29	2	1452	2	ZKSCAN5	7	99128782	Nonsense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	560942	99128782	60009881	91	50041											
ACHE	43	broad.mit.edu	37	chr7	100491265	100491265	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccacattgcccggggcctCtcggctccccggcagggcca	5	5	12	19	3	1	0	0	0	1	0	3	0	2	0	6	5	1	2	6	5	0	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:100491265C>G	ENST00000302913.4	-	2	727	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	ACHE_ENST00000241069.5_Missense_Mutation_p.E197Q|ACHE_ENST00000428317.1_Missense_Mutation_p.E197Q|ACHE_ENST00000419336.2_Missense_Mutation_p.E197Q|ACHE_ENST00000411582.1_Missense_Mutation_p.E197Q|ACHE_ENST00000412389.1_Missense_Mutation_p.E197Q	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	197					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CCCGGGGCCTCTCGGCTCCCC	0.652													20	86					0	0	0	0	G	100491265	C	G	100491265	3	3	279	1	0	0	0	0	1	0	0	0	141	922	32	2	1406	2	ACHE	7	100491265	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	1362483	100491265	58647398	92	50042											
RAB19	401409	broad.mit.edu	37	chr7	140125753	140125753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacactggctgagaagtacGgcctcctggccgttttggag	7	9	14	11	2	0	1	0	1	0	1	1	3	1	2	3	4	1	4	3	4	2	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:140125753G>T	ENST00000275874.5	+	5	796	c.598G>T	c.(598-600)Ggc>Tgc	p.G200C	RAB19_ENST00000537763.1_Missense_Mutation_p.G153C|RAB19_ENST00000356407.3_Missense_Mutation_p.G153C			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	153					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TGAGAAGTACGGCCTCCTGGC	0.522													42	87					1.62957e-23	3.56884e-23	1	0	T	140125753	G	T	140125753	3	4	279	1	0	0	0	0	1	0	0	0	12986	1116	39	3	467	3	RAB19	7	140125753	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	39634488	140125753	19012910	93	50043											
DPP6	1804	broad.mit.edu	37	chr7	154561126	154561126	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctactctgttttcccttaGaggagattttgaagacacac	10	14	7	10	0	2	4	0	1	2	3	3	5	3	4	1	1	1	1	1	1	3	6			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:154561126G>C	ENST00000404039.1	+	9	1278		c.e9-1		DPP6_ENST00000332007.3_Splice_Site|DPP6_ENST00000427557.1_Splice_Site|DPP6_ENST00000377770.3_Splice_Site	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTTCCCTTAGAGGAGATTTT	0.512													8	71					0	0	0	0	C	154561126	G	C	154561126	5	2	279	1	0	0	0	0	0	0	1	0	4766	956	33	2	1033	2	DPP6	7	154561126	Splice_Site	SNP	G	TCGA-CV-7101-01A-11D-2012-08	14435373	154561126	4577537	94	50044											
CLN8	2055	broad.mit.edu	37	chr8	1719415	1719415	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagagaaggtcttctgggaCctggcggccacgcgtgcagt	8	7	16	10	3	2	2	0	0	2	2	2	4	2	3	2	4	1	1	2	4	1	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:1719415C>T	ENST00000331222.4	+	2	442	c.195C>T	c.(193-195)gaC>gaT	p.D65D		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	65	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TCTTCTGGGACCTGGCGGCCA	0.612													11	42					0	0	0	0	T	1719415	C	T	1719415	2	4	279	1	0	0	0	0	0	0	0	1	3576	506	18	4		4	CLN8	8	1719415	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08		1719415	144644607	95	50045											
MYOM2	9172	broad.mit.edu	37	chr8	2044180	2044180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgaaattcagtggtggctCgcccatcctgggctactacc	7	9	10	15	2	1	0	1	0	0	0	3	1	2	0	4	3	2	2	4	3	3	3	rs149624495	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:2044180C>T	ENST00000262113.4	+	18	2360	c.2219C>T	c.(2218-2220)tCg>tTg	p.S740L	MYOM2_ENST00000523438.1_Missense_Mutation_p.S165L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	740	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGTGGTGGCTCGCCCATCCTG	0.557													36	46					0	0	0	0	T	2044180	C	T	2044180	3	4	279	1	0	0	0	0	1	0	0	0	10162	893	31	1	2285	1	MYOM2	8	2044180	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	324765	2044180	144319842	96	50046											
CSMD1	64478	broad.mit.edu	37	chr8	4494992	4494992	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgatgatgatccaggtGcagttggcatagttcggata	9	11	13	8	2	0	3	0	3	0	0	2	4	1	4	2	3	1	4	2	3	2	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:4494992G>A	ENST00000602557.1	-	2	729	c.174C>T	c.(172-174)tgC>tgT	p.C58C	CSMD1_ENST00000602723.1_Silent_p.C58C|CSMD1_ENST00000537824.1_Silent_p.C58C|CSMD1_ENST00000539096.1_Silent_p.C58C|CSMD1_ENST00000520002.1_Silent_p.C58C|CSMD1_ENST00000400186.3_Silent_p.C58C|CSMD1_ENST00000542608.1_Silent_p.C58C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	58	CUB 1.					integral to membrane		p.C58C(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGATCCAGGTGCAGTTGGCAT	0.478													5	79					0	0	0	0	A	4494992	G	A	4494992	2	1	279	1	0	0	0	0	0	0	0	1	3976	1311	46	4		4	CSMD1	8	4494992	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	2450812	4494992	141869030	97	50047											
PSD3	23362	broad.mit.edu	37	chr8	18541359	18541372	+	Frame_Shift_Del	DEL	AGAATCCTCCCGGG	AGAATCCTCCCGGG	-																															ctgtgagactgccgccggatAgaatcctcccgggagtattt																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:18541359_18541372delAGAATCCTCCCGGG	ENST00000428502.2	-	1	237_250	c.71_84delCCCGGGAGGATTCT	c.(70-84)tfs	p.SREDS24fs	PSD3_ENST00000440756.2_Intron|PSD3_ENST00000286485.8_Intron|PSD3_ENST00000327040.8_Intron|PSD3_ENST00000523619.1_Intron			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	0					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GCCGCCGGATAGAATCCTCCCGGGAGTATTTCAC	0.472													10	136	---	---	---	---					-	18541372	AGAATCCTCCCGGG	-	18541359	7	5	279	1	0	1	0	1	0	0	0	0	12727	435	15	0		0	PSD3	8	18541359	Frame_Shift_Del	DEL	AGAATCCTCCCGGG	TCGA-CV-7101-01A-11D-2012-08	14046367	18541359	127822663	98	50048											
SLC18A1	6570	broad.mit.edu	37	chr8	20008242	20008242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaggacacactggcaggCaagaaagctagacctgtgga	14	5	14	8	0	0	2	0	0	0	2	0	4	0	4	1	5	1	4	1	5	4	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:20008242C>A	ENST00000440926.1	-	12	1499	c.1029G>T	c.(1027-1029)ttG>ttT	p.L343F	SLC18A1_ENST00000519026.1_Missense_Mutation_p.L311F|SLC18A1_ENST00000381608.4_Missense_Mutation_p.L343F|SLC18A1_ENST00000437980.1_Missense_Mutation_p.L343F|SLC18A1_ENST00000265808.7_Missense_Mutation_p.L311F|SLC18A1_ENST00000276373.5_Missense_Mutation_p.L343F	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	343					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CACTGGCAGGCAAGAAAGCTA	0.498													20	70					1.56452e-12	3.22225e-12	1	0	A	20008242	C	A	20008242	3	1	279	1	0	0	0	0	1	0	0	0	14513	709	25	4	572	4	SLC18A1	8	20008242	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	1466883	20008242	126355780	99	50049											
ENTPD4	9583	broad.mit.edu	37	chr8	23302048	23302048	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgcccgtggcacatgctCtgcagcaaagttcaaaagtg	10	11	10	10	1	2	0	1	0	1	0	2	0	2	0	1	1	4	5	1	1	3	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:23302048C>G	ENST00000358689.4	-	5	719	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	ENTPD4_ENST00000417069.2_Missense_Mutation_p.E162Q|ENTPD4_ENST00000356206.6_Missense_Mutation_p.E162Q	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	162					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGCACATGCTCTGCAGCAAAG	0.453													4	68					0	0	0	0	G	23302048	C	G	23302048	3	3	279	1	0	0	0	0	1	0	0	0	5179	922	32	2	1402	2	ENTPD4	8	23302048	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	3293806	23302048	123061974	100	50050											
STAR	6770	broad.mit.edu	37	chr8	38005823	38005823	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccagctcctggtcactgtaGagagtctcttctagccgaga	8	10	11	12	1	3	2	1	0	2	2	5	4	4	2	3	1	2	2	3	1	2	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:38005823G>C	ENST00000276449.4	-	3	647	c.201C>G	c.(199-201)ctC>ctG	p.L67L		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	67	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GGTCACTGTAGAGAGTCTCTT	0.582													3	24					0	0	0	0	C	38005823	G	C	38005823	2	2	279	1	0	0	0	0	0	0	0	1	15344	929	33	2		2	STAR	8	38005823	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	14703775	38005823	108358199	101	50051											
BAG4	9530	broad.mit.edu	37	chr8	38066593	38066593	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgtagtgttccacaatcAggaccgactgtacgaccaca	13	8	8	12	3	1	0	1	0	0	0	3	3	2	1	3	1	1	3	3	1	4	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:38066593A>G	ENST00000287322.4	+	4	967	c.696A>G	c.(694-696)tcA>tcG	p.S232S	BAG4_ENST00000432471.2_Silent_p.S196S	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	232					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TTCCACAATCAGGACCGACTG	0.498													6	26					0	0	0	0	G	38066593	A	G	38066593	2	3	279	1	0	0	0	0	0	0	0	1	1293	175	7	5		5	BAG4	8	38066593	Silent	SNP	A	TCGA-CV-7101-01A-11D-2012-08	60770	38066593	108297429	102	50052											
FGFR1	2260	broad.mit.edu	37	chr8	38280635	38280635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacatactccccgctctggGcctctgtcacattgaacagg	9	9	8	15	1	3	1	1	1	2	0	4	1	4	1	3	2	2	1	3	2	2	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:38280635G>A	ENST00000341462.5	-	8	1939	c.998C>T	c.(997-999)gCc>gTc	p.A333V	FGFR1_ENST00000532791.1_Intron|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000397091.5_Intron|FGFR1_ENST00000397103.1_Missense_Mutation_p.A241V|FGFR1_ENST00000397108.4_Intron|FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000397113.2_Intron|FGFR1_ENST00000425967.3_Intron|FGFR1_ENST00000335922.5_Intron|FGFR1_ENST00000447712.2_Intron			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	334	Ig-like C2-type 3.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCCGCTCTGGGCCTCTGTCAC	0.517		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						10	16					0	0	0	0	A	38280635	G	A	38280635	3	1	279	1	0	0	0	0	1	0	0	0	5908	1218	42	4		4	FGFR1	8	38280635	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	214042	38280635	108083387	103	50053											
YTHDF3	253943	broad.mit.edu	37	chr8	64099527	64099527	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgcaaagccaactgcctCaacagcagcctcaaccacca	13	5	7	16	0	2	0	2	0	0	0	2	0	2	0	5	1	8	2	5	1	4	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:64099527C>T	ENST00000539294.1	+	4	1271	c.955C>T	c.(955-957)Caa>Taa	p.Q319*	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Nonsense_Mutation_p.Q130*	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	320												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			CCAACTGCCTCAACAGCAGCC	0.547													8	24					0	0	0	0	T	64099527	C	T	64099527	4	4	279	1	0	0	0	0	0	1	0	0	17596	813	29	2	971	2	YTHDF3	8	64099527	Nonsense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	25818892	64099527	82264495	104	50054											
CSMD3	114788	broad.mit.edu	37	chr8	113585856	113585856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagtaaaagcacctagtaGatgagtcgttttatcttttc	12	14	7	8	1	1	2	0	1	1	1	3	2	1	2	2	0	1	4	2	0	5	7			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:113585856G>A	ENST00000297405.5	-	24	4160	c.3916C>T	c.(3916-3918)Cta>Tta	p.L1306L	CSMD3_ENST00000352409.3_Silent_p.L1306L|CSMD3_ENST00000455883.2_Silent_p.L1202L|CSMD3_ENST00000343508.3_Silent_p.L1266L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1306	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCACCTAGTAGATGAGTCGTT	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	43					0	0	0	0	A	113585856	G	A	113585856	2	1	279	1	0	0	0	0	0	0	0	1	3978	933	33	2		2	CSMD3	8	113585856	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	49486329	113585856	32778166	105	50055											
COL14A1	7373	broad.mit.edu	37	chr8	121282288	121282288	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtatgtaaggcggccAaggctgacctggtatttatg	9	12	12	8	1	1	1	1	1	0	0	1	1	1	1	2	4	0	4	2	4	5	6			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:121282288A>G	ENST00000297848.3	+	26	3358	c.3088A>G	c.(3088-3090)Aag>Gag	p.K1030E	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.K1030E|COL14A1_ENST00000247781.3_Missense_Mutation_p.K935E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1030					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAAGGCGGCCAAGGCTGACCT	0.403													5	55					0	0	0	0	G	121282288	A	G	121282288	3	3	279	1	0	0	0	0	1	0	0	0	3701	131	5	5	3186	5	COL14A1	8	121282288	Missense_Mutation	SNP	A	TCGA-CV-7101-01A-11D-2012-08	7696432	121282288	25081734	106	50056											
TRMT12	55039	broad.mit.edu	37	chr8	125463521	125463521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcgctgggtggagggtcGgggagtcaagtggtcagccg	6	7	21	7	3	2	0	2	0	0	0	4	3	2	2	1	6	1	1	1	6	1	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:125463521G>T	ENST00000328599.3	+	1	474	c.353G>T	c.(352-354)cGg>cTg	p.R118L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	118					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGGAGGGTCGGGGAGTCAAG	0.557													5	94					0.00116845	0.00213407	1	0	T	125463521	G	T	125463521	3	4	279	1	0	0	0	0	1	0	0	0	16659	1116	39	3	355	3	TRMT12	8	125463521	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	4181233	125463521	20900501	107	50057											
KHDRBS3	10656	broad.mit.edu	37	chr8	136594129	136594129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttggttacaggggaagggGaggagttacagcccggccag	9	7	17	8	1	1	0	0	0	1	0	1	3	1	3	2	7	3	2	2	7	3	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:136594129G>A	ENST00000355849.5	+	6	1030	c.620G>A	c.(619-621)gGa>gAa	p.G207E	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	207					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AGGGGAAGGGGAGGAGTTACA	0.483													25	72					0	0	0	0	A	136594129	G	A	136594129	3	1	279	1	0	0	0	0	1	0	0	0	8199	1174	41	2	642	2	KHDRBS3	8	136594129	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	11130608	136594129	9769893	108	50058											
MPDZ	8777	broad.mit.edu	37	chr9	13216781	13216781	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtaacttactgctataaTttggtctccaatttggattc	9	18	7	7	0	1	0	0	0	1	0	3	1	1	1	1	2	3	2	1	2	5	7			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:13216781T>C	ENST00000319217.7	-	10	1529	c.1282A>G	c.(1282-1284)Att>Gtt	p.I428V	MPDZ_ENST00000541718.1_Missense_Mutation_p.I428V|MPDZ_ENST00000536827.1_Missense_Mutation_p.I428V|MPDZ_ENST00000381022.2_Missense_Mutation_p.I428V|MPDZ_ENST00000381015.4_Missense_Mutation_p.I428V|MPDZ_ENST00000546205.1_Missense_Mutation_p.I428V|MPDZ_ENST00000447879.1_Missense_Mutation_p.I428V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	428	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACTGCTATAATTTGGTCTCCA	0.323													10	12					0	0	0	0	C	13216781	T	C	13216781	3	2	279	1	0	0	0	0	1	0	0	0	9792	1493	52	5	4991	5	MPDZ	9	13216781	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08		13216781	127996650	109	50059											
CDKN2A	1029	broad.mit.edu	37	chr9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtccacgggcagacggccCcaggcatcgcgcacgtccag	8	3	14	16	5	0	1	0	0	0	1	3	1	2	1	4	4	0	3	4	4	0	0	rs121913389		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	15					0	0	0	0	T	21971028	C	T	21971028	4	4	279	1	0	0	0	0	0	1	0	0	3190	624	22	4	148	4	CDKN2A	9	21971028	Nonsense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	8754247	21971028	119242403	110	50060											
UBAP2	55833	broad.mit.edu	37	chr9	33927875	33927875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagacagaggctgttcgcgGtgttcatgctactggacagg	8	9	14	10	2	1	2	1	0	0	2	2	3	1	3	1	4	2	4	1	4	1	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:33927875G>A	ENST00000379238.1	-	20	2408	c.2291C>T	c.(2290-2292)aCc>aTc	p.T764I	UBAP2_ENST00000418786.2_3'UTR|UBAP2_ENST00000360802.1_Missense_Mutation_p.T764I|UBAP2_ENST00000379235.1_Missense_Mutation_p.T3I|UBAP2_ENST00000379239.4_Missense_Mutation_p.T497I|UBAP2_ENST00000539807.1_Missense_Mutation_p.T519I|UBAP2_ENST00000449054.1_Missense_Mutation_p.T764I			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	764										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GCTGTTCGCGGTGTTCATGCT	0.637													30	44					0	0	0	0	A	33927875	G	A	33927875	3	1	279	1	0	0	0	0	1	0	0	0	16933	1261	44	4	1108	4	UBAP2	9	33927875	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	11956847	33927875	107285556	111	50061											
KIF24	347240	broad.mit.edu	37	chr9	34310897	34310897	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcattcagaattcctgtttTtgtatggtactgggaatcat	9	16	10	6	0	2	1	2	0	0	1	3	2	3	2	1	3	1	4	1	3	4	6			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:34310897T>C	ENST00000379166.2	-	2	567	c.448A>G	c.(448-450)Aaa>Gaa	p.K150E	KIF24_ENST00000345050.2_Missense_Mutation_p.K150E|KIF24_ENST00000379174.3_Missense_Mutation_p.K150E|KIF24_ENST00000402558.2_Missense_Mutation_p.K150E	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	150					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATTCCTGTTTTTGTATGGTAC	0.403													28	124					0	0	0	0	C	34310897	T	C	34310897	3	2	279	1	0	0	0	0	1	0	0	0	8343	1850	64	5	3706	5	KIF24	9	34310897	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08	383022	34310897	106902534	112	50062											
S1PR3	1903	broad.mit.edu	37	chr9	91617076	91617076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactgcctggtcaggggaCggggggcccgcgcctcaccc	5	4	16	16	3	2	0	2	0	0	0	2	1	2	1	4	6	2	1	4	6	1	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:91617076C>T	ENST00000375846.3	+	1	5656	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	S1PR3_ENST00000358157.2_Missense_Mutation_p.R321W			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	321					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GGTCAGGGGACGGGGGGCCCG	0.612													19	29					0	0	0	0	T	91617076	C	T	91617076	3	4	279	1	0	0	0	0	1	0	0	0	13880	527	19	1	963	1	S1PR3	9	91617076	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	57306179	91617076	49596355	113	50063											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112900082	112900082	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaattcactggctgatttttCtctgccccagacaccacaaa	12	11	5	13	0	2	2	1	1	1	1	3	2	2	2	3	1	1	1	3	1	2	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr9:112900082C>G	ENST00000374530.3	+	8	2438	c.2258C>G	c.(2257-2259)tCt>tGt	p.S753C	AKAP2_ENST00000374525.1_Missense_Mutation_p.S611C|AKAP2_ENST00000434623.2_Missense_Mutation_p.S611C|AKAP2_ENST00000555236.1_Missense_Mutation_p.S753C|AKAP2_ENST00000510514.5_Missense_Mutation_p.S753C|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.S753C|AKAP2_ENST00000259318.7_Missense_Mutation_p.S522C	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		522							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCTGATTTTTCTCTGCCCCAG	0.507													6	101					0	0	0	0	G	112900082	C	G	112900082	3	3	279	1	0	0	0	0	1	0	0	0	11481	913	32	2	2288	2	PALM2-AKAP2	9	112900082	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	21283006	112900082	28313349	114	50064											
ZNF618	114991	broad.mit.edu	37	chr9	116810994	116810994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcggcagaacatcgcagAgcggctgttgagggtcatgt	9	7	17	8	3	1	3	1	1	0	2	2	4	1	4	0	4	3	4	0	4	1	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:116810994A>G	ENST00000288466.7	+	14	1232	c.1133A>G	c.(1132-1134)gAg>gGg	p.E378G	ZNF618_ENST00000374126.5_Missense_Mutation_p.E471G|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AACATCGCAGAGCGGCTGTTG	0.557													25	63					0	0	0	0	G	116810994	A	G	116810994	3	3	279	1	0	0	0	0	1	0	0	0	18137	304	11	5	1187	5	ZNF618	9	116810994	Missense_Mutation	SNP	A	TCGA-CV-7101-01A-11D-2012-08	3910912	116810994	24402437	115	50065											
ASTN2	23245	broad.mit.edu	37	chr9	119495733	119495733	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccccccggcactgctcCtccaccggcagcgggatcac	7	4	11	19	3	1	0	1	0	0	0	3	2	3	2	6	4	2	3	6	4	0	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:119495733C>T	ENST00000313400.4	-	14	2566	c.2466G>A	c.(2464-2466)gaG>gaA	p.E822E	ASTN2_ENST00000373996.3_Silent_p.E818E|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.E771E			O75129	ASTN2_HUMAN	astrotactin 2	822						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGCACTGCTCCTCCACCGGCA	0.602													33	84					0	0	0	0	T	119495733	C	T	119495733	2	4	279	1	0	0	0	0	0	0	0	1	1069	680	24	4		4	ASTN2	9	119495733	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08	2684739	119495733	21717698	116	50066											
CRB2	286204	broad.mit.edu	37	chr9	126132410	126132410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgacatgtgaggaagatgtgGatgaatgcctgtcggatccc	10	9	14	8	2	0	3	0	2	0	1	2	7	1	6	2	3	1	0	2	3	2	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:126132410G>A	ENST00000373631.3	+	7	1079	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	CRB2_ENST00000373629.2_Missense_Mutation_p.D28N|CRB2_ENST00000359999.3_Missense_Mutation_p.D360N	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	360	EGF-like 8; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGAAGATGTGGATGAATGCCT	0.572													23	75					0	0	0	0	A	126132410	G	A	126132410	3	1	279	1	0	0	0	0	1	0	0	0	3879	1174	41	2	1104	2	CRB2	9	126132410	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	6636677	126132410	15081021	117	50067											
NUP214	8021	broad.mit.edu	37	chr9	134073597	134073597	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggctaccccagccaccacGggggtccctgatgccaggac	8	4	13	16	1	0	1	0	1	0	0	1	3	1	2	6	4	3	1	6	4	1	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:134073597G>T	ENST00000359428.5	+	29	4860	c.4716G>T	c.(4714-4716)acG>acT	p.T1572T	NUP214_ENST00000483497.2_Silent_p.T398T|NUP214_ENST00000411637.2_Silent_p.T1562T|NUP214_ENST00000451030.1_Silent_p.T1573T			P35658	NU214_HUMAN	nucleoporin 214kDa	1572	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CAGCCACCACGGGGGTCCCTG	0.577			T	"DEK, SET, ABL1"	"AML, T-ALL"								6	113					0.00116845	0.00213407	1	0	T	134073597	G	T	134073597	2	4	279	1	0	0	0	0	0	0	0	1	10833	1103	39	3		3	NUP214	9	134073597	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	7941187	134073597	7139834	118	50068											
COL5A1	1289	broad.mit.edu	37	chr9	137593123	137593123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcgaccaccccatgatcGacatcaatggcatcatcgtg	11	7	9	14	3	2	1	2	1	0	0	4	3	2	1	3	1	1	2	3	1	1	0	rs142890619	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:137593123G>A	ENST00000371817.3	+	4	1012	c.598G>A	c.(598-600)Gac>Aac	p.D200N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	200	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCATGATCGACATCAATGG	0.542													4	22					0	0	0	0	A	137593123	G	A	137593123	3	1	279	1	0	0	0	0	1	0	0	0	3726	1058	37	1	612	1	COL5A1	9	137593123	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	3519526	137593123	3620308	119	50069											
NOTCH1	4851	broad.mit.edu	37	chr9	139393659	139393659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaggatcagtggcgtcGtgccatcatgcatgcgggca	8	7	14	12	3	2	0	2	0	0	0	3	1	2	1	2	3	4	2	2	3	0	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:139393659G>A	ENST00000277541.6	-	32	6062	c.5987C>T	c.(5986-5988)aCg>aTg	p.T1996M		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1996					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.T1997M(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGTGGCGTCGTGCCATCATG	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			6	51					0	0	0	0	A	139393659	G	A	139393659	3	1	279	1	0	0	0	0	1	0	0	0	10617	1145	40	1	1692	1	NOTCH1	9	139393659	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	1800536	139393659	1819772	120	50070											
CUBN	8029	broad.mit.edu	37	chr10	17127720	17127720	+	Frame_Shift_Del	DEL	C	C	-																															gagaaagtggtgcagaacttCccaagaagggggtcctgata																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:17127720delC	ENST00000377833.4	-	16	2051	c.1986delG	c.(1984-1986)ggfs	p.G662fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	662	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCAGAACTTCCCAAGAAGGG	0.458													23	46	---	---	---	---					-	17127720	C	-	17127720	7	5	279	1	0	1	0	1	0	0	0	0	4083	842	30	0	9093	0	CUBN	10	17127720	Frame_Shift_Del	DEL	C	TCGA-CV-7101-01A-11D-2012-08		17127720	118407027	121	50071											
MYO3A	53904	broad.mit.edu	37	chr10	26243891	26243891	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagattctatgggatatactTtaagaaggataaagtaaatg	17	12	9	3	0	1	2	0	0	1	2	1	4	1	4	0	2	1	1	0	2	9	8			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:26243891T>A	ENST00000265944.5	+	4	423	c.257T>A	c.(256-258)tTt>tAt	p.F86Y	MYO3A_ENST00000376301.1_Missense_Mutation_p.F86Y|MYO3A_ENST00000543632.1_Missense_Mutation_p.F86Y|MYO3A_ENST00000376302.1_Missense_Mutation_p.F86Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	86	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGGATATACTTTAAGAAGGAT	0.373													6	82					0	0	0	0	A	26243891	T	A	26243891	3	1	279	1	0	0	0	0	1	0	0	0	10146	1841	64	5	263	5	MYO3A	10	26243891	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08	9116171	26243891	109290856	122	50072											
ZEB1	6935	broad.mit.edu	37	chr10	31810429	31810429	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagggttacttgtacacAgctgagggtgcacaagaaga	14	7	12	8	0	0	3	0	1	0	2	0	3	0	3	0	2	4	4	0	2	4	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:31810429A>G	ENST00000446923.2	+	7	2509	c.2118A>G	c.(2116-2118)acA>acG	p.T706T	ZEB1_ENST00000320985.10_Silent_p.T722T|ZEB1_ENST00000361642.5_Silent_p.T723T|ZEB1_ENST00000542815.3_Silent_p.T655T|ZEB1_ENST00000560721.2_Silent_p.T702T|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	722					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACTTGTACACAGCTGAGGGTG	0.438													7	41					0	0	0	0	G	31810429	A	G	31810429	2	3	279	1	0	0	0	0	0	0	0	1	17718	175	7	5		5	ZEB1	10	31810429	Silent	SNP	A	TCGA-CV-7101-01A-11D-2012-08	5566538	31810429	103724318	123	50073											
DKK1	22943	broad.mit.edu	37	chr10	54074846	54074846	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggaattactgcaaaaatgGtgagtcctgaaagctccctt	12	10	10	9	1	0	2	0	2	0	0	2	3	2	3	2	2	3	2	2	2	5	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:54074846G>T	ENST00000373970.3	+	2	545		c.e2+1		DKK1_ENST00000467359.1_Splice_Site	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1						negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TGCAAAAATGGTGAGTCCTGA	0.587													6	37					3.59834e-05	6.8031e-05	1	0	T	54074846	G	T	54074846	5	4	279	1	0	0	0	0	0	0	1	0	4581	1275	44	4	413	4	DKK1	10	54074846	Splice_Site	SNP	G	TCGA-CV-7101-01A-11D-2012-08	22264417	54074846	81459901	124	50074											
EGR2	1959	broad.mit.edu	37	chr10	64573002	64573003	+	Frame_Shift_Del	DEL	GC	GC	-																															ccgagaggagcaaggggcgaGcggccctccgccaagactgc																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:64573002_64573003delGC	ENST00000242480.3	-	2	1720_1721	c.1395_1396delGC	c.(1393-1398)cctcfs	p.PL465fs	EGR2_ENST00000411732.1_Frame_Shift_Del_p.PL415fs|EGR2_ENST00000439032.1_Frame_Shift_Del_p.PL465fs	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	465					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAGGGGCGAGCGGCCCTCCGC	0.653													7	119	---	---	---	---					-	64573003	GC	-	64573002	7	5	279	1	0	1	0	1	0	0	0	0	5008	971	34	0	38	0	EGR2	10	64573002	Frame_Shift_Del	DEL	GC	TCGA-CV-7101-01A-11D-2012-08	10498156	64573002	70961745	125	50075											
GRID1	2894	broad.mit.edu	37	chr10	87407143	87407143	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccacttgtttggacaggTcctggaaagtcctgaaatgc	9	13	10	9	0	0	1	0	1	0	0	3	3	3	3	3	3	1	1	3	3	2	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:87407143T>G	ENST00000327946.7	-	13	2094	c.2009A>C	c.(2008-2010)gAc>gCc	p.D670A	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.D241A	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	670						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TTTGGACAGGTCCTGGAAAGT	0.522										Multiple Myeloma(13;0.14)			14	153					0	0	0	0	G	87407143	T	G	87407143	3	3	279	1	0	0	0	0	1	0	0	0	6821	1667	58	5	1036	5	GRID1	10	87407143	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08	22834141	87407143	48127604	126	50076											
IFIT5	24138	broad.mit.edu	37	chr10	91177111	91177111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccacaaaatctagacttgCtctttataacctattggcct	12	14	4	11	0	2	1	0	0	2	1	2	1	2	1	3	1	3	1	3	1	7	8			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:91177111C>T	ENST00000371795.4	+	2	368	c.155C>T	c.(154-156)gCt>gTt	p.A52V	IFIT5_ENST00000416601.1_Missense_Mutation_p.A52V	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	52							binding			endometrium(1)|large_intestine(4)|lung(4)	9						TCTAGACTTGCTCTTTATAAC	0.373													8	60					0	0	0	0	T	91177111	C	T	91177111	3	4	279	1	0	0	0	0	1	0	0	0	7578	797	28	4	161	4	IFIT5	10	91177111	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	3769968	91177111	44357636	127	50077											
NLRP6	171389	broad.mit.edu	37	chr11	281335	281335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacactcctgcgtggggacgCccagccgcacagccacttgg	7	5	13	16	3	0	0	0	0	0	0	1	2	1	1	4	3	3	1	4	3	0	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:281335C>A	ENST00000534750.1	+	4	1806	c.1601C>A	c.(1600-1602)gCc>gAc	p.A534D	NLRP6_ENST00000312165.5_Missense_Mutation_p.A534D	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	534						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGTGGGGACGCCCAGCCGCAC	0.687													12	16					1.5842e-08	3.1684e-08	1	0	A	281335	C	A	281335	3	1	279	1	0	0	0	0	1	0	0	0	10551	739	26	4	1615	4	NLRP6	11	281335	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08		281335	134725181	128	50078											
SLC25A22	79751	broad.mit.edu	37	chr11	792580	792580	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgtggccccgagtcccttgTagagaccggcaatgccacgg	7	6	14	14	4	0	1	0	0	0	1	1	3	1	1	5	3	1	2	5	3	2	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:792580T>C	ENST00000320230.5	-	7	1041	c.560A>G	c.(559-561)tAc>tGc	p.Y187C	SLC25A22_ENST00000531214.1_Missense_Mutation_p.Y187C	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	187						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	GAGTCCCTTGTAGAGACCGGC	0.731													7	19					0	0	0	0	C	792580	T	C	792580	3	2	279	1	0	0	0	0	1	0	0	0	14573	1638	57	5	427	5	SLC25A22	11	792580	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08	511245	792580	134213936	129	50079											
C11orf16	56673	broad.mit.edu	37	chr11	8947244	8947244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcgtgcattgctactttctCctctttaggaccttccaggg	6	14	9	12	1	2	0	0	0	2	0	4	1	3	1	3	2	4	2	3	2	2	6			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:8947244C>G	ENST00000326053.5	-	5	1076	c.970G>C	c.(970-972)Gag>Cag	p.E324Q	C11orf16_ENST00000525780.1_Missense_Mutation_p.E324Q	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	324										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GCTACTTTCTCCTCTTTAGGA	0.552													13	55					0	0	0	0	G	8947244	C	G	8947244	3	3	279	1	0	0	0	0	1	0	0	0	1641	864	30	2	441	2	C11orf16	11	8947244	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	8154664	8947244	126059272	130	50080											
C11orf16	56673	broad.mit.edu	37	chr11	8948556	8948556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atactgctgttggcctggctCccagagtgccagcaccttat	7	11	10	13	0	0	1	0	0	0	1	1	1	1	1	4	2	4	4	4	2	2	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:8948556C>G	ENST00000326053.5	-	4	596	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	C11orf16_ENST00000525780.1_Missense_Mutation_p.E164Q	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	164										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TGGCCTGGCTCCCAGAGTGCC	0.547													9	40					0	0	0	0	G	8948556	C	G	8948556	3	3	279	1	0	0	0	0	1	0	0	0	1641	864	30	2	925	2	C11orf16	11	8948556	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	1312	8948556	126057960	131	50081											
SBF2	81846	broad.mit.edu	37	chr11	10064472	10064472	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgtcaggacaaccacAaagaacgttggctgcttcct	11	10	9	11	1	2	1	1	0	1	1	3	2	3	2	2	2	3	3	2	2	3	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:10064472A>G	ENST00000256190.8	-	3	335	c.198T>C	c.(196-198)ttT>ttC	p.F66F	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	66	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGACAACCACAAAGAACGTTG	0.403													23	29					0	0	0	0	G	10064472	A	G	10064472	2	3	279	1	0	0	0	0	0	0	0	1	13945	127	5	5		5	SBF2	11	10064472	Silent	SNP	A	TCGA-CV-7101-01A-11D-2012-08	1115916	10064472	124942044	132	50082											
MYOD1	4654	broad.mit.edu	37	chr11	17741386	17741386	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacggcccccgacggctcTctctgctcctttgccacaac	5	9	8	19	3	2	1	0	1	2	0	4	2	3	1	4	2	3	2	4	2	1	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:17741386T>G	ENST00000250003.3	+	1	272	c.57T>G	c.(55-57)tcT>tcG	p.S19S		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	19					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						CCGACGGCTCTCTCTGCTCCT	0.652													23	40					0	0	0	0	G	17741386	T	G	17741386	2	3	279	1	0	0	0	0	0	0	0	1	10158	1538	54	5		5	MYOD1	11	17741386	Silent	SNP	T	TCGA-CV-7101-01A-11D-2012-08	7676914	17741386	117265130	133	50083											
DPF2	5977	broad.mit.edu	37	chr11	65108938	65108938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagtttagaggctctgttgCgcactgaccccctggagaag	8	10	13	10	1	1	3	0	1	1	2	1	4	1	3	2	2	1	5	2	2	3	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:65108938C>T	ENST00000528416.1	+	4	503	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	DPF2_ENST00000252268.4_Missense_Mutation_p.R124C|DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000415073.2_Missense_Mutation_p.R124C	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	124					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GGCTCTGTTGCGCACTGACCC	0.567													10	40					0	0	0	0	T	65108938	C	T	65108938	3	4	279	1	0	0	0	0	1	0	0	0	4753	768	27	1	384	1	DPF2	11	65108938	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	47367552	65108938	69897578	134	50084											
PPFIA1	8500	broad.mit.edu	37	chr11	70176348	70176348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgctacctcgctgcacagCgtgaagccacatctgtgcat	10	8	9	14	3	1	1	0	1	1	0	2	1	1	1	2	0	6	4	2	0	3	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:70176348C>T	ENST00000253925.7	+	8	1215	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	PPFIA1_ENST00000389547.3_Missense_Mutation_p.R334C|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	334					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGCTGCACAGCGTGAAGCCAC	0.398													23	42					0	0	0	0	T	70176348	C	T	70176348	3	4	279	1	0	0	0	0	1	0	0	0	12380	768	27	1	1026	1	PPFIA1	11	70176348	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	5067410	70176348	64830168	135	50085											
NUMA1	4926	broad.mit.edu	37	chr11	71727303	71727306	+	Splice_Site	DEL	CCAG	CCAG	-																															tgcctcttgcttcaaggtttCcagctggtggtataaagaga																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:71727303_71727306delCCAG	ENST00000393695.3	-	15	1574_1577	c.1242_splice	c.e15-1	p.LE415_splice	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Splice_Site_p.LE415_splice|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	415					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTCAAGGTTTCCAGCTGGTGGTAT	0.51			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	80	---	---	---	---					-	71727306	CCAG	-	71727303	8	5	279	1	0	1	0	1	0	0	1	0	10821	864	30	0	5153	0	NUMA1	11	71727303	Splice_Site	DEL	CCAG	TCGA-CV-7101-01A-11D-2012-08	1550955	71727303	63279213	136	50086											
SRPR	6734	broad.mit.edu	37	chr11	126136385	126136385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttaccaggttgatgtcctCagacaaggcagcctcagggg	9	9	12	11	0	3	2	2	1	1	1	4	2	4	2	3	4	2	2	3	4	2	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:126136385C>T	ENST00000332118.6	-	6	980	c.826G>A	c.(826-828)Gag>Aag	p.E276K	SRPR_ENST00000532259.1_Missense_Mutation_p.E248K	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	276					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTGATGTCCTCAGACAAGGCA	0.488													15	71					0	0	0	0	T	126136385	C	T	126136385	3	4	279	1	0	0	0	0	1	0	0	0	15252	835	29	2	1126	2	SRPR	11	126136385	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	54409082	126136385	8870131	137	50087											
CD163	9332	broad.mit.edu	37	chr12	7636160	7636160	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttgttgacacaccaccTgagcatcgtccaagtcccaa	12	8	7	14	1	0	2	0	2	0	0	3	2	2	2	4	0	1	3	4	0	3	2	rs141756075	by1000genomes	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:7636160T>G	ENST00000359156.4	-	12	3093	c.2891A>C	c.(2890-2892)cAg>cCg	p.Q964P	CD163_ENST00000396620.3_Missense_Mutation_p.Q997P|CD163_ENST00000432237.2_Missense_Mutation_p.Q964P|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.Q952P	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	964	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACACACCACCTGAGCATCGTC	0.522													10	69					0	0	0	0	G	7636160	T	G	7636160	3	3	279	1	0	0	0	0	1	0	0	0	2996	1580	55	5	599	5	CD163	12	7636160	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08		7636160	126215735	138	50088											
DENND5B	160518	broad.mit.edu	37	chr12	31552693	31552693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgaacagtggtcagcttcCccaagttctggcactgtagg	8	11	11	11	0	3	1	1	1	2	0	4	1	4	1	2	3	2	4	2	3	3	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:31552693C>T	ENST00000389082.5	-	16	3227	c.2963G>A	c.(2962-2964)gGg>gAg	p.G988E	DENND5B_ENST00000306833.6_Missense_Mutation_p.G1023E|DENND5B_ENST00000536562.1_Missense_Mutation_p.G1023E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	988	PLAT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTCAGCTTCCCCAAGTTCTG	0.443													10	20					0	0	0	0	T	31552693	C	T	31552693	3	4	279	1	0	0	0	0	1	0	0	0	4474	623	22	4	885	4	DENND5B	12	31552693	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	23916533	31552693	102299202	139	50089											
TROAP	10024	broad.mit.edu	37	chr12	49722756	49722756	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctgcccctgtggcccAgcccttgcctggccatgtgg	2	9	11	19	0	0	0	0	0	0	0	1	0	1	0	8	3	3	0	8	3	0	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:49722756A>G	ENST00000551245.1	+	9	1049	c.938A>G	c.(937-939)cAg>cGg	p.Q313R	TROAP_ENST00000257909.3_Missense_Mutation_p.Q313R|TROAP_ENST00000547923.1_Missense_Mutation_p.Q21R			Q12815	TROAP_HUMAN	trophinin associated protein	313					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCTGTGGCCCAGCCCTTGCCT	0.592													29	57					0	0	0	0	G	49722756	A	G	49722756	3	3	279	1	0	0	0	0	1	0	0	0	16670	188	7	5	1070	5	TROAP	12	49722756	Missense_Mutation	SNP	A	TCGA-CV-7101-01A-11D-2012-08	18170063	49722756	84129139	140	50090											
PPFIA2	8499	broad.mit.edu	37	chr12	81661805	81661805	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaagtatattatttgcataTtctcgaagtccaattgcttg	11	17	6	7	1	2	0	1	0	1	0	4	1	3	0	1	0	2	3	1	0	7	8			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:81661805T>C	ENST00000550584.2	-	28	3667	c.3372A>G	c.(3370-3372)gaA>gaG	p.E1124E	PPFIA2_ENST00000443686.3_Silent_p.E1019E|PPFIA2_ENST00000541570.2_Silent_p.E660E|PPFIA2_ENST00000333447.7_Silent_p.E1112E|PPFIA2_ENST00000407050.4_Silent_p.E1023E|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Silent_p.E1124E|PPFIA2_ENST00000549325.1_Silent_p.E1109E|PPFIA2_ENST00000548586.1_Silent_p.E1118E|PPFIA2_ENST00000552948.1_Silent_p.E1103E|PPFIA2_ENST00000541017.1_Silent_p.E310E|PPFIA2_ENST00000550359.2_Silent_p.E971E	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1023										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TATTTGCATATTCTCGAAGTC	0.393													4	8					0	0	0	0	C	81661805	T	C	81661805	2	2	279	1	0	0	0	0	0	0	0	1	12381	1490	52	5		5	PPFIA2	12	81661805	Silent	SNP	T	TCGA-CV-7101-01A-11D-2012-08	31939049	81661805	52190090	141	50091											
TXNRD1	7296	broad.mit.edu	37	chr12	104720144	104720144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgatgctggcaataggaaGagatgcttgcacaagaaaaa	16	7	13	5	0	0	3	0	1	0	2	0	5	0	4	0	3	3	4	0	3	6	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:104720144G>C	ENST00000526691.1	+	10	1490	c.1034G>C	c.(1033-1035)aGa>aCa	p.R345T	TXNRD1_ENST00000525566.1_Missense_Mutation_p.R443T|TXNRD1_ENST00000354940.6_Missense_Mutation_p.R293T|TXNRD1_ENST00000542918.1_Missense_Mutation_p.R343T|TXNRD1_ENST00000540716.1_Missense_Mutation_p.R255T|TXNRD1_ENST00000529546.1_Missense_Mutation_p.R255T|TXNRD1_ENST00000526390.1_Missense_Mutation_p.R337T|TXNRD1_ENST00000524698.1_Missense_Mutation_p.R293T|TXNRD1_ENST00000503506.2_Missense_Mutation_p.R293T|TXNRD1_ENST00000429002.2_Missense_Mutation_p.R443T|TXNRD1_ENST00000427956.1_Missense_Mutation_p.R408T|TXNRD1_ENST00000397736.2_Missense_Mutation_p.R337T|TXNRD1_ENST00000526950.1_Missense_Mutation_p.R362T|TXNRD1_ENST00000378070.4_Missense_Mutation_p.R392T|TXNRD1_ENST00000388854.3_Missense_Mutation_p.R345T	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	443					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GCAATAGGAAGAGATGCTTGC	0.289													2	1					0	0	0	0	C	104720144	G	C	104720144	3	2	279	1	0	0	0	0	1	0	0	0	16903	942	33	2	1388	2	TXNRD1	12	104720144	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	23058339	104720144	29131751	142	50092											
SPPL3	121665	broad.mit.edu	37	chr12	121221519	121221519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttaaatactggcacatcGggaggagaagaaaagcaaaa	18	7	11	5	1	0	2	0	0	0	2	1	4	0	3	0	3	2	3	0	3	8	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:121221519G>C	ENST00000353487.2	-	5	850	c.347C>G	c.(346-348)cCg>cGg	p.P116R		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	117						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGGCACATCGGGAGGAGAAG	0.323													15	13					0	0	0	0	C	121221519	G	C	121221519	3	2	279	1	0	0	0	0	1	0	0	0	15180	1116	39	3	835	3	SPPL3	12	121221519	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	16501375	121221519	12630376	143	50093											
TMEM132D	121256	broad.mit.edu	37	chr12	129563188	129563188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctgtcaccagctgcaccCcgaggtctgtgatggtcacc	6	8	11	16	1	3	1	2	1	1	0	3	2	3	1	5	2	2	2	5	2	0	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:129563188C>A	ENST00000422113.2	-	8	2332	c.2006G>T	c.(2005-2007)gGg>gTg	p.G669V	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G207V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	669						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAGCTGCACCCCGAGGTCTGT	0.582													34	56					1.61788e-16	3.41945e-16	1	0	A	129563188	C	A	129563188	3	1	279	1	0	0	0	0	1	0	0	0	16141	623	22	4	1301	4	TMEM132D	12	129563188	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	8341669	129563188	4288707	144	50094											
NBEA	26960	broad.mit.edu	37	chr13	36229091	36229091	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtaacagcagataatcgctAtattcttatctgtggattct	11	15	8	7	1	3	1	0	0	3	1	4	2	3	2	0	2	2	3	0	2	5	7			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:36229091A>T	ENST00000400445.3	+	53	8606	c.8072A>T	c.(8071-8073)tAt>tTt	p.Y2691F	NBEA_ENST00000379939.2_Missense_Mutation_p.Y2688F|NBEA_ENST00000310336.4_Missense_Mutation_p.Y2691F|NBEA_ENST00000537702.1_Missense_Mutation_p.Y484F|NBEA_ENST00000379922.3_Missense_Mutation_p.Y269F|NBEA_ENST00000540320.1_Missense_Mutation_p.Y2691F	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2691						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATAATCGCTATATTCTTATC	0.368													13	21					0	0	0	0	T	36229091	A	T	36229091	3	4	279	1	0	0	0	0	1	0	0	0	10257	449	16	5	8282	5	NBEA	13	36229091	Missense_Mutation	SNP	A	TCGA-CV-7101-01A-11D-2012-08		36229091	78940787	145	50095											
SLITRK5	26050	broad.mit.edu	37	chr13	88330022	88330022	+	Silent	SNP	G	G	A																															agcagcaaccaccacctgcaGcagcagcagcagccgccgcc																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:88330022G>A	ENST00000325089.6	+	2	2598	c.2379G>A	c.(2377-2379)caG>caA	p.Q793Q	SLITRK5_ENST00000400028.3_Silent_p.Q552Q	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	793						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCACCTgcagcagcagcagc	0.662													12	18					0	0	0	0	A	88330022	G	A	88330022	2	1	279	1	0	0	0	0	0	0	0	1	14834	962	34	4		4	SLITRK5	13	88330022	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	52100931	88330022	26839856	146	50096	393	2									
SLITRK5	26050	broad.mit.edu	37	chr13	88330023	88330023	+	Missense_Mutation	SNP	C	C	A																															gcagcaaccaccacctgcagCagcagcagcagccgccgccg																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:88330023C>A	ENST00000325089.6	+	2	2599	c.2380C>A	c.(2380-2382)Cag>Aag	p.Q794K	SLITRK5_ENST00000400028.3_Missense_Mutation_p.Q553K	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	794						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCACCTgcagcagcagcagca	0.657													13	18					9.31168e-06	1.78136e-05	1	0	A	88330023	C	A	88330023	3	1	279	1	0	0	0	0	1	0	0	0	14834	711	25	4	2382	4	SLITRK5	13	88330023	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	1	88330023	26839855	147	50097	393	2									
FARP1	10160	broad.mit.edu	37	chr13	99043103	99043103	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggttctcgactatgttaaaGaaggaggacataagaaggtg	15	9	13	4	1	1	2	0	0	1	2	2	5	1	4	0	4	0	2	0	4	6	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:99043103G>C	ENST00000376586.2	+	11	1393	c.1057G>C	c.(1057-1059)Gaa>Caa	p.E353Q	FARP1_ENST00000595437.1_Missense_Mutation_p.E353Q|FARP1_ENST00000319562.6_Missense_Mutation_p.E353Q			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	353					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTATGTTAAAGAAGGAGGACA	0.453													20	71					0	0	0	0	C	99043103	G	C	99043103	3	2	279	1	0	0	0	0	1	0	0	0	5721	943	33	2	1318	2	FARP1	13	99043103	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	10713080	99043103	16126775	148	50098											
ZIC5	85416	broad.mit.edu	37	chr13	100622499	100622499	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcggatgtggttgatgagCttgtatttggccttgaaggg	7	13	16	5	2	0	3	0	3	0	0	0	4	0	4	1	4	1	3	1	4	2	5			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:100622499C>G	ENST00000267294.4	-	1	1664	c.1431G>C	c.(1429-1431)aaG>aaC	p.K477N		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	477					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGTTGATGAGCTTGTATTTGG	0.642													5	113					0	0	0	0	G	100622499	C	G	100622499	3	3	279	1	0	0	0	0	1	0	0	0	17777	796	28	4	568	4	ZIC5	13	100622499	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	1579396	100622499	14547379	149	50099											
MCF2L	23263	broad.mit.edu	37	chr13	113678963	113678963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtctctccccaggtgggCgggggcaggacggaagcccg	5	5	18	13	3	1	0	0	0	1	0	3	2	2	2	3	7	1	1	3	7	1	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:113678963C>T	ENST00000397030.1	+	3	305	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	MCF2L_ENST00000375601.3_Missense_Mutation_p.R61W|MCF2L_ENST00000397024.1_Missense_Mutation_p.R55W|MCF2L_ENST00000535094.2_Missense_Mutation_p.R57W|MCF2L_ENST00000375604.2_Missense_Mutation_p.R114W|MCF2L_ENST00000442652.2_Missense_Mutation_p.R87W|MCF2L_ENST00000434480.2_Missense_Mutation_p.R63W|MCF2L_ENST00000423482.2_Missense_Mutation_p.R55W|MCF2L_ENST00000375608.3_Missense_Mutation_p.R87W|MCF2L_ENST00000421756.1_Missense_Mutation_p.R61W|MCF2L_ENST00000375597.4_Missense_Mutation_p.R55W			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	87	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCCAGGTGGGCGGGGGCAGGA	0.612													7	77					0	0	0	0	T	113678963	C	T	113678963	3	4	279	1	0	0	0	0	1	0	0	0	9448	759	27	1	445	1	MCF2L	13	113678963	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	13056464	113678963	1490915	150	50100											
TPPP2	122664	broad.mit.edu	37	chr14	21499312	21499312	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcaaagacccagccacCactggcgctactgtgagtga	11	5	13	12	1	0	3	0	2	0	1	0	4	0	3	3	2	2	2	3	2	2	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:21499312C>A	ENST00000321760.6	+	3	463	c.315C>A	c.(313-315)acC>acA	p.T105T	TPPP2_ENST00000460647.2_Silent_p.T105T|TPPP2_ENST00000530140.2_Silent_p.T105T|NDRG2_ENST00000403829.3_Intron	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	105						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACCCAGCCACCACTGGCGCTA	0.537													11	47					3.07112e-06	5.94568e-06	1	0	A	21499312	C	A	21499312	2	1	279	1	0	0	0	0	0	0	0	1	16509	581	21	4		4	TPPP2	14	21499312	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08		21499312	85850228	151	50101											
SLC7A7	9056	broad.mit.edu	37	chr14	23243254	23243254	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgatgagggagttgatagtAtcactgtaaagtggaacagc	13	9	13	6	1	1	2	1	2	0	0	1	5	1	4	1	2	2	3	1	2	5	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:23243254A>G	ENST00000397532.3	-	9	1842	c.1317T>C	c.(1315-1317)gaT>gaC	p.D439D	SLC7A7_ENST00000285850.7_Silent_p.D439D|SLC7A7_ENST00000555702.1_Silent_p.D439D|SLC7A7_ENST00000397529.2_Silent_p.D439D|SLC7A7_ENST00000554517.1_Silent_p.D173D|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Silent_p.D439D			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	439					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGTTGATAGTATCACTGTAAA	0.507													34	60					0	0	0	0	G	23243254	A	G	23243254	2	3	279	1	0	0	0	0	0	0	0	1	14791	446	16	5		5	SLC7A7	14	23243254	Silent	SNP	A	TCGA-CV-7101-01A-11D-2012-08	1743942	23243254	84106286	152	50102											
NYNRIN	57523	broad.mit.edu	37	chr14	24885013	24885013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccttacacgccaacctatgCccacctggcagccgtggcct	7	7	8	19	2	0	0	0	0	0	0	0	0	0	0	7	2	4	1	7	2	3	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:24885013C>T	ENST00000382554.3	+	9	4376	c.4058C>T	c.(4057-4059)gCc>gTc	p.A1353V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1353					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCAACCTATGCCCACCTGGCA	0.607													16	131					0	0	0	0	T	24885013	C	T	24885013	3	4	279	1	0	0	0	0	1	0	0	0	10867	739	26	4	4088	4	NYNRIN	14	24885013	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	1641759	24885013	82464527	153	50103											
GZMB	3002	broad.mit.edu	37	chr14	25100420	25100420	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagggcctccagagtcccCctgtgaatagagagtggaag	12	6	14	9	0	0	4	0	1	0	3	2	6	2	5	4	2	0	0	4	2	4	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:25100420C>G	ENST00000216341.4	-	5	707	c.600_splice	c.e5-1	p.G201_splice	GZMB_ENST00000415355.3_Splice_Site_p.G189_splice|GZMB_ENST00000382540.1_Splice_Site_p.G156_splice|GZMB_ENST00000382542.1_Splice_Site_p.G235_splice|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	201	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CCAGAGTCCCCCTGTGAATAG	0.557													5	68					0	0	0	0	G	25100420	C	G	25100420	5	3	279	1	0	0	0	0	0	0	1	0	6966	637	22	4	146	4	GZMB	14	25100420	Splice_Site	SNP	C	TCGA-CV-7101-01A-11D-2012-08	215407	25100420	82249120	154	50104											
ASPG	374569	broad.mit.edu	37	chr14	104570801	104570801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcctccagggggctgtgaCcacagactatgcagctggca	8	7	13	13	0	0	2	0	1	0	1	1	2	1	2	3	3	3	4	3	3	1	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:104570801C>T	ENST00000551177.1	+	8	1006	c.914C>T	c.(913-915)aCc>aTc	p.T305I	ASPG_ENST00000455920.2_Missense_Mutation_p.T305I|ASPG_ENST00000546892.2_Missense_Mutation_p.T305I	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	305	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGGGCTGTGACCACAGACTAT	0.672													8	43					0	0	0	0	T	104570801	C	T	104570801	3	4	279	1	0	0	0	0	1	0	0	0	1056	507	18	4	944	4	ASPG	14	104570801	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	79470381	104570801	2778739	155	50105											
MTA1	9112	broad.mit.edu	37	chr14	105920571	105920571	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctacgacccacagcagaaGaccctgctggcagataaagg	13	5	11	12	1	1	3	0	0	1	3	1	4	1	3	2	2	3	3	2	2	4	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:105920571G>A	ENST00000331320.7	+	7	688	c.474G>A	c.(472-474)aaG>aaA	p.K158K	MTA1_ENST00000405646.1_Silent_p.K141K|MTA1_ENST00000406191.1_Silent_p.K158K	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	158	BAH.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CACAGCAGAAGACCCTGCTGG	0.537													10	49					0	0	0	0	A	105920571	G	A	105920571	2	1	279	1	0	0	0	0	0	0	0	1	9978	933	33	2		2	MTA1	14	105920571	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	1349770	105920571	1428969	156	50106											
HERC2	8924	broad.mit.edu	37	chr15	28386588	28386588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcttaccttcccatcaGccgtcacagcaaagagggtc	10	8	9	14	1	3	1	2	0	1	1	5	2	4	1	3	1	4	2	3	1	2	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:28386588G>T	ENST00000261609.7	-	78	12113	c.12005C>A	c.(12004-12006)gCt>gAt	p.A4002D		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4002					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCCCATCAGCCGTCACAGC	0.517													30	21					8.88839e-20	1.89515e-19	1	0	T	28386588	G	T	28386588	3	4	279	1	0	0	0	0	1	0	0	0	7108	971	34	4	2563	4	HERC2	15	28386588	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08		28386588	74144804	157	50107											
NDNL2	56160	broad.mit.edu	37	chr15	29561491	29561491	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcaagttccaccagcttaTacccgaagacgtactggagg	11	9	10	11	2	1	1	1	0	0	1	2	3	2	2	3	2	3	4	3	2	5	5			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:29561491T>C	ENST00000332303.4	-	1	542	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	140	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CACCAGCTTATACCCGAAGAC	0.577													3	89					0	0	0	0	C	29561491	T	C	29561491	3	2	279	1	0	0	0	0	1	0	0	0	10318	1406	49	5	499	5	NDNL2	15	29561491	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08	1174903	29561491	72969901	158	50108											
CEP152	22995	broad.mit.edu	37	chr15	49054851	49054851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactccttttcaagctgttGaatgagtttttctttgatct	7	19	6	9	0	3	3	1	3	2	0	4	3	4	3	2	0	1	3	2	0	2	6			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:49054851G>C	ENST00000380950.2	-	18	2486	c.2299C>G	c.(2299-2301)Caa>Gaa	p.Q767E	CEP152_ENST00000325747.5_Missense_Mutation_p.Q674E|CEP152_ENST00000399334.3_Missense_Mutation_p.Q767E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	767					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCAAGCTGTTGAATGAGTTTT	0.348													39	31					0	0	0	0	C	49054851	G	C	49054851	3	2	279	1	0	0	0	0	1	0	0	0	3277	1299	45	2	2701	2	CEP152	15	49054851	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	19493360	49054851	53476541	159	50109											
VPS13C	54832	broad.mit.edu	37	chr15	62165605	62165612	+	Splice_Site	DEL	CCACCTAT	CCACCTAT	-																															gagatacaactcctgctgcaCcacctatcaaagacaaggga																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:62165605_62165612delCCACCTAT	ENST00000261517.5	-	78	10488_10491	c.10414_splice	c.e78-1	p.3472_splice	VPS13C_ENST00000395896.4_Splice_Site_p.3472_splice|VPS13C_ENST00000395898.3_Splice_Site_p.3429_splice|VPS13C_ENST00000249837.3_Splice_Site_p.3429_splice	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3472					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTGCTGCaccacctatcaaagacaag	0.375													12	172	---	---	---	---					-	62165612	CCACCTAT	-	62165605	8	5	279	1	0	1	0	1	0	0	1	0	17287	507	18	0	903	0	VPS13C	15	62165605	Splice_Site	DEL	CCACCTAT	TCGA-CV-7101-01A-11D-2012-08	13110754	62165605	40365787	160	50110											
RPS27L	51065	broad.mit.edu	37	chr15	63447855	63447855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcctcctgtaggctggCacaacactgttgaacaacct	9	11	7	14	0	0	1	0	1	0	0	2	1	2	1	4	2	3	4	4	2	4	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:63447855C>T	ENST00000330964.5	-	3	587	c.191G>A	c.(190-192)tGc>tAc	p.C64Y	RPS27L_ENST00000411926.1_Missense_Mutation_p.C32Y|RPS27L_ENST00000455271.1_Missense_Mutation_p.C32Y|RPS27L_ENST00000462430.1_Missense_Mutation_p.C80Y|RPS27L_ENST00000439025.1_Missense_Mutation_p.C64Y|RPS27L_ENST00000559763.1_5'UTR	NM_015920.3	NP_057004.1	Q71UM5	RS27L_HUMAN	ribosomal protein S27-like	64					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of anti-apoptosis|translation	nucleus|ribosome	caspase activator activity|metal ion binding|structural constituent of ribosome|translation activator activity			large_intestine(1)	1						TGTAGGCTGGCACAACACTGT	0.413													5	66					0	0	0	0	T	63447855	C	T	63447855	3	4	279	1	0	0	0	0	1	0	0	0	13725	710	25	4	71	4	RPS27L	15	63447855	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	1282250	63447855	39083537	161	50111											
WHAMM	123720	broad.mit.edu	37	chr15	83478538	83478538	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggtccgggagggcctcttCgccgagcccgagaggcaccg	5	4	16	16	6	1	1	0	0	1	1	3	4	2	2	6	4	1	1	6	4	0	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:83478538C>T	ENST00000286760.4	+	1	159	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	20						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						AGGGCCTCTTCGCCGAGCCCG	0.731													12	20					0	0	0	0	T	83478538	C	T	83478538	2	4	279	1	0	0	0	0	0	0	0	1	17457	883	31	1		1	WHAMM	15	83478538	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08	20030683	83478538	19052854	162	50112											
SLC28A1	9154	broad.mit.edu	37	chr15	85487997	85487997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctctacagggatcctctaCatgcccaggggggctgaagt	8	8	12	13	0	2	1	0	1	2	0	3	2	3	2	3	4	3	1	3	4	3	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:85487997C>T	ENST00000394573.1	+	18	1975	c.1773C>T	c.(1771-1773)taC>taT	p.Y591Y	SLC28A1_ENST00000537624.1_Silent_p.Y591Y|SLC28A1_ENST00000538177.1_Silent_p.Y425Y|SLC28A1_ENST00000286749.3_Silent_p.Y591Y|SLC28A1_ENST00000537216.1_Intron	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	591					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGATCCTCTACATGCCCAGGG	0.597													49	42					0	0	0	0	T	85487997	C	T	85487997	2	4	279	1	0	0	0	0	0	0	0	1	14619	489	17	4		4	SLC28A1	15	85487997	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08	2009459	85487997	17043395	163	50113											
HBA2	3040	broad.mit.edu	37	chr16	223537	223537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagttcacccctgcggtgCacgcctccctggacaagttc	6	8	10	17	3	1	0	1	0	0	0	3	2	2	1	5	2	2	3	5	2	1	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:223537C>T	ENST00000251595.6	+	3	433	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	HBA2_ENST00000397806.1_Missense_Mutation_p.H91Y	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	123			H -> Q (in Westmead).		hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	CCCTGCGGTGCACGCCTCCCT	0.662											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	23					0	0	0	0	T	223537	C	T	223537	3	4	279	1	0	0	0	0	1	0	0	0	7027	710	25	4	377	4	HBA2	16	223537	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08		223537	90131216	164	50114											
CORO7	79585	broad.mit.edu	37	chr16	4408429	4408429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgacgcagccgcaggcacCgcatcagctccacttcccgc	8	5	9	19	4	1	1	1	1	0	0	3	1	3	1	4	1	2	5	4	1	0	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:4408429C>T	ENST00000251166.4	-	24	2541	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R799Q|CORO7_ENST00000574025.1_Missense_Mutation_p.R714Q|CORO7_ENST00000539968.1_Missense_Mutation_p.R579Q|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000537233.2_Missense_Mutation_p.R781Q	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCGCAGGCACCGCATCAGCTC	0.697													5	33					0	0	0	0	T	4408429	C	T	4408429	3	4	279	1	0	0	0	0	1	0	0	0	3789	652	23	1	401	1	CORO7	16	4408429	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	4184892	4408429	85946324	165	50115											
MYH11	4629	broad.mit.edu	37	chr16	15820749	15820749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagctccgcccgggcccgctCcccatcgctgcacttggact	4	7	11	19	4	0	0	0	0	0	0	3	2	2	1	5	2	2	4	5	2	0	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:15820749C>T	ENST00000338282.6	-	28	3920	c.3814G>A	c.(3814-3816)Gag>Aag	p.E1272K	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.E1279K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1279K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1272K|MYH11_ENST00000576790.1_Missense_Mutation_p.E1272K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1272					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGGGCCCGCTCCCCATCGCTG	0.647			T	CBFB	AML								6	150					0	0	0	0	T	15820749	C	T	15820749	3	4	279	1	0	0	0	0	1	0	0	0	10101	864	30	2	2195	2	MYH11	16	15820749	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	11412320	15820749	74534004	166	50116											
C16orf62	57020	broad.mit.edu	37	chr16	19586419	19586419	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaattttatgtctctgcaGaatctgtttatgggatctga	10	17	9	5	0	3	3	0	2	3	1	4	4	3	4	0	1	1	2	0	1	4	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:19586419G>A	ENST00000438132.3	+	5	723		c.e5-1		C16orf62_ENST00000538853.1_Splice_Site|C16orf62_ENST00000542263.1_Splice_Site|C16orf62_ENST00000417362.2_Splice_Site|C16orf62_ENST00000251143.5_Splice_Site	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62							integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGTCTCTGCAGAATCTGTTTA	0.294													5	33					0	0	0	0	A	19586419	G	A	19586419	5	1	279	1	0	0	0	0	0	0	1	0	1838	956	33	2	426	2	C16orf62	16	19586419	Splice_Site	SNP	G	TCGA-CV-7101-01A-11D-2012-08	3765670	19586419	70768334	167	50117											
EEF2K	29904	broad.mit.edu	37	chr16	22271782	22271782	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctgtttctccctgcccaGattggccagtgttcagtgac	5	14	10	12	0	3	2	1	1	2	1	4	2	3	2	3	1	1	2	3	1	0	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:22271782G>C	ENST00000263026.5	+	11	1705		c.e11-1			NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase						insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCCCTGCCCAGATTGGCCAGT	0.547													5	115					0	0	0	0	C	22271782	G	C	22271782	5	2	279	1	0	0	0	0	0	0	1	0	4966	956	33	2	1269	2	EEF2K	16	22271782	Splice_Site	SNP	G	TCGA-CV-7101-01A-11D-2012-08	2685363	22271782	68082971	168	50118											
SH2B1	25970	broad.mit.edu	37	chr16	28877954	28877954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggaccgttgaccctccctCctccgctgggcccctggaga	4	7	13	17	2	0	2	0	1	0	1	3	4	3	3	7	4	0	2	7	4	0	1	rs144107554		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:28877954C>T	ENST00000337120.5	+	1	3830	c.539C>T	c.(538-540)tCc>tTc	p.S180F	SH2B1_ENST00000322610.8_Missense_Mutation_p.S180F|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.S180F|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.S180F|SH2B1_ENST00000545570.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	180	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GACCCTCCCTCCTCCGCTGGG	0.652													19	46					0	0	0	0	T	28877954	C	T	28877954	3	4	279	1	0	0	0	0	1	0	0	0	14314	855	30	2	541	2	SH2B1	16	28877954	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	6606172	28877954	61476799	169	50119											
CES1	1066	broad.mit.edu	37	chr16	55862770	55862770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccaagaggcggcttggCaaaagggattcccaggaaaa	13	5	15	8	1	0	1	0	0	0	1	2	3	2	3	2	6	0	2	2	6	5	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:55862770C>A	ENST00000422046.2	-	2	447	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	CES1_ENST00000361503.4_Missense_Mutation_p.A56S|CES1_ENST00000360526.3_Missense_Mutation_p.A57S			P23141	EST1_HUMAN	carboxylesterase 1	56				A -> G (in Ref. 2; AAA16036/AAA35711).	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)	GGCGGCTTGGCAAAAGGGATT	0.557													11	64					3.86212e-05	7.27341e-05	1	0	A	55862770	C	A	55862770	3	1	279	1	0	0	0	0	1	0	0	0	3298	710	25	4	1589	4	CES1	16	55862770	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	26984816	55862770	34491983	170	50120											
RSPRY1	89970	broad.mit.edu	37	chr16	57238809	57238809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagccaaccacgggaccCtgttcggccaccaaggaggg	11	3	14	13	2	0	0	0	0	0	0	1	3	0	3	5	5	2	1	5	5	3	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:57238809C>A	ENST00000537866.1	+	2	1112	c.239C>A	c.(238-240)cCt>cAt	p.P80H	RSPRY1_ENST00000394420.4_Missense_Mutation_p.P80H			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	80						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCACGGGACCCTGTTCGGCCA	0.547													7	67					0.000157383	0.000292975	1	0	A	57238809	C	A	57238809	3	1	279	1	0	0	0	0	1	0	0	0	13798	681	24	4	241	4	RSPRY1	16	57238809	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	1376039	57238809	33115944	171	50121											
CDH11	1009	broad.mit.edu	37	chr16	64984742	64984742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccggcgttcagaatgtaggCctctgcgttgcaggagagca	8	8	15	10	3	2	2	1	0	1	2	2	3	2	2	2	3	3	5	2	3	2	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:64984742C>A	ENST00000394156.3	-	12	2275	c.1822G>T	c.(1822-1824)Gcc>Tcc	p.A608S	CDH11_ENST00000566827.1_Missense_Mutation_p.A482S|CDH11_ENST00000268603.4_Missense_Mutation_p.A608S			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	608	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGAATGTAGGCCTCTGCGTTG	0.637			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			17	26					4.7546e-09	9.58845e-09	1	0	A	64984742	C	A	64984742	3	1	279	1	0	0	0	0	1	0	0	0	3126	739	26	4	576	4	CDH11	16	64984742	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	7745933	64984742	25370011	172	50122											
RLTPR	146206	broad.mit.edu	37	chr16	67683451	67683451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctgaccgcgctggatatCagcggcaacgccatggggga	10	5	14	12	4	1	1	1	1	0	0	1	3	1	3	3	4	3	2	3	4	3	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:67683451C>T	ENST00000334583.6	+	20	2176	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	RLTPR_ENST00000545661.1_Silent_p.I580I	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	616	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CGCTGGATATCAGCGGCAACG	0.672													10	46					0	0	0	0	T	67683451	C	T	67683451	2	4	279	1	0	0	0	0	0	0	0	1	13479	816	29	2		2	RLTPR	16	67683451	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08	2698709	67683451	22671302	173	50123											
CENPT	80152	broad.mit.edu	37	chr16	67862656	67862656	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatagtggctcagtccagcCttgtggggatcttgccgggg	6	10	15	10	1	2	0	1	0	1	0	3	1	3	1	3	5	2	1	3	5	1	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:67862656C>G	ENST00000562787.1	-	14	1919	c.1371G>C	c.(1369-1371)aaG>aaC	p.K457N	CENPT_ENST00000564817.1_Missense_Mutation_p.K402N|CENPT_ENST00000440851.2_Missense_Mutation_p.K457N|CENPT_ENST00000219172.3_Missense_Mutation_p.K457N	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	457					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCAGTCCAGCCTTGTGGGGAT	0.587													12	171					0	0	0	0	G	67862656	C	G	67862656	3	3	279	1	0	0	0	0	1	0	0	0	3271	680	24	4	326	4	CENPT	16	67862656	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	179205	67862656	22492097	174	50124											
EDC4	23644	broad.mit.edu	37	chr16	67917557	67917557	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgggcagccaccctgcccGctctcccagcctgtgctcct	3	10	9	19	1	1	0	0	0	1	0	3	0	2	0	6	1	4	3	6	1	0	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:67917557G>A	ENST00000358933.5	+	28	4175	c.3936G>A	c.(3934-3936)ccG>ccA	p.P1312P	CTC-479C5.10_ENST00000572067.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1312					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CACCCTGCCCGCTCTCCCAGC	0.587											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	186					0	0	0	0	A	67917557	G	A	67917557	2	1	279	1	0	0	0	0	0	0	0	1	4944	1074	38	1		1	EDC4	16	67917557	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	54901	67917557	22437196	175	50125											
BCAR1	9564	broad.mit.edu	37	chr16	75276926	75276926	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtcatgatgtcacccttGcggaaggagagctcatccgg	9	8	12	12	3	3	2	3	1	0	1	4	4	4	3	3	3	2	1	3	3	1	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:75276926G>T	ENST00000418647.3	-	3	496	c.213C>A	c.(211-213)cgC>cgA	p.R71R	BCAR1_ENST00000420641.3_Silent_p.R43R|BCAR1_ENST00000546196.1_5'UTR|BCAR1_ENST00000542031.2_Silent_p.R23R|BCAR1_ENST00000393420.6_Silent_p.R25R|BCAR1_ENST00000393422.2_Silent_p.R43R|BCAR1_ENST00000535626.2_Silent_p.R25R|BCAR1_ENST00000162330.5_Silent_p.R25R|BCAR1_ENST00000538440.2_Silent_p.R25R	NM_001170714.1	NP_001164185.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	25					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTCACCCTTGCGGAAGGAGA	0.627													7	44					2.0095e-06	3.90601e-06	1	0	T	75276926	G	T	75276926	2	4	279	1	0	0	0	0	0	0	0	1	1352	1306	46	4		4	BCAR1	16	75276926	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	7359369	75276926	15077827	176	50126											
PKD1L2	114780	broad.mit.edu	37	chr16	81253869	81253869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaattcatagcaagcatctCtgaaggccacctggctgtta	12	10	8	11	0	2	1	1	1	1	0	3	1	2	1	2	2	2	4	2	2	5	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:81253869C>T	ENST00000599697.1	-	1	106	c.107G>A	c.(106-108)aGa>aAa	p.R36K	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	36	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCAAGCATCTCTGAAGGCCAC	0.562													15	70					0	0	0	0	T	81253869	C	T	81253869	3	4	279	1	0	0	0	0	1	0	0	0	12037	913	32	2	7513	2	PKD1L2	16	81253869	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	5976943	81253869	9100884	177	50127											
RPH3AL	9501	broad.mit.edu	37	chr17	171088	171088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctgctgctccaggacgtCgagccgctctgccctctgga	4	10	11	16	3	3	0	0	0	3	0	6	3	4	2	3	2	4	3	3	2	0	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:171088C>T	ENST00000323434.8	-	4	793	c.196G>A	c.(196-198)Gac>Aac	p.D66N	RPH3AL_ENST00000536489.2_Missense_Mutation_p.D66N|RPH3AL_ENST00000331302.7_Missense_Mutation_p.D66N	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	66	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TCCAGGACGTCGAGCCGCTCT	0.682													29	75					0	0	0	0	T	171088	C	T	171088	3	4	279	1	0	0	0	0	1	0	0	0	13637	884	31	1	779	1	RPH3AL	17	171088	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08		171088	81024122	178	50128											
MYO1C	4641	broad.mit.edu	37	chr17	1375450	1375450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcattgggtttgatgcagcGgacgtaggcgggctccttag	7	11	15	8	3	1	1	1	1	0	0	2	2	2	2	1	4	2	4	1	4	2	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:1375450G>A	ENST00000359786.5	-	18	2194	c.1870C>T	c.(1870-1872)Cgc>Tgc	p.R624C	MYO1C_ENST00000575158.1_Missense_Mutation_p.R589C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R589C|MYO1C_ENST00000438665.2_Missense_Mutation_p.R605C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R600C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	624	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTGATGCAGCGGACGTAGGCG	0.657													5	112					0	0	0	0	A	1375450	G	A	1375450	3	1	279	1	0	0	0	0	1	0	0	0	10140	1116	39	1	1381	1	MYO1C	17	1375450	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	1204362	1375450	79819760	179	50129											
TP53	7157	broad.mit.edu	37	chr17	7578419	7578419	+	Nonsense_Mutation	SNP	C	C	A																															ggggcagcgcctcacaacctCcgtcatgtgctgtgactgct																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:7578419C>A	ENST00000420246.2	-	5	643	c.511G>T	c.(511-513)Gag>Tag	p.E171*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E171*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E171*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E171*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E171*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Nonsense_Mutation_p.E171*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E171K(11)|p.E171*(10)|p.0?(8)|p.E171Q(4)|p.E171fs*2(3)|p.E171fs*3(2)|p.E171fs*10(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171_V172delEV(1)|p.E39K(1)|p.E78K(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCACAACCTCCGTCATGTGC	0.662		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	26					2.48551e-13	5.16302e-13	1	0	A	7578419	C	A	7578419	4	1	279	1	0	0	0	0	0	1	0	0	16476	864	30	2	787	2	TP53	17	7578419	Nonsense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	6202969	7578419	73616791	180	50130	394	2									
TP53	7157	broad.mit.edu	37	chr17	7578420	7578420	+	Silent	SNP	C	C	A																															gggcagcgcctcacaacctcCgtcatgtgctgtgactgctt																										TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:7578420C>A	ENST00000420246.2	-	5	642	c.510G>T	c.(508-510)acG>acT	p.T170T	TP53_ENST00000455263.2_Silent_p.T170T|TP53_ENST00000269305.4_Silent_p.T170T|TP53_ENST00000445888.2_Silent_p.T170T|TP53_ENST00000359597.4_Silent_p.T170T|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Silent_p.T170T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	170	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		MT -> IS (in a sporadic cancer; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> K (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.T170T(7)|p.E171fs*10(3)|p.V157_C176del20(1)|p.T170fs*2(1)|p.E171fs*9(1)|p.H168fs*69(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.T170_E171insXX(1)|p.H168fs*3(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCACAACCTCCGTCATGTGCT	0.657		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	26					6.49762e-13	1.34395e-12	1	0	A	7578420	C	A	7578420	2	1	279	1	0	0	0	0	0	0	0	1	16476	639	23	3		3	TP53	17	7578420	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08	1	7578420	73616790	181	50131	394	2									
MAPK7	5598	broad.mit.edu	37	chr17	19286398	19286398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcccctgcagccaggcaGattcagcctctctctcagcc	6	9	7	19	0	3	1	2	0	2	1	6	1	4	1	6	1	4	2	6	1	0	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:19286398G>A	ENST00000308406.5	+	7	2691	c.2305G>A	c.(2305-2307)Gat>Aat	p.D769N	MAPK7_ENST00000299612.7_Missense_Mutation_p.D630N|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000395604.3_Missense_Mutation_p.D769N|MAPK7_ENST00000395602.4_Missense_Mutation_p.D769N	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	769	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CAGCCAGGCAGATTCAGCCTC	0.597													28	78					0	0	0	0	A	19286398	G	A	19286398	3	1	279	1	0	0	0	0	1	0	0	0	9351	942	33	2	2327	2	MAPK7	17	19286398	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	11707978	19286398	61908812	182	50132											
SLC47A2	146802	broad.mit.edu	37	chr17	19610064	19610064	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccagtcctgcaggcactgGctggaccaacctggaaacag	10	5	11	15	0	0	0	0	0	0	0	1	2	1	2	5	4	3	3	5	4	2	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:19610064G>A	ENST00000350657.5	-	9	912	c.738C>T	c.(736-738)agC>agT	p.S246S	SLC47A2_ENST00000325411.5_Silent_p.S282S|SLC47A2_ENST00000463318.1_5'UTR	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	282						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GCAGGCACTGGCTGGACCAAC	0.612													19	53					0	0	0	0	A	19610064	G	A	19610064	2	1	279	1	0	0	0	0	0	0	0	1	14736	1194	42	4		4	SLC47A2	17	19610064	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	323666	19610064	61585146	183	50133											
CDK12	51755	broad.mit.edu	37	chr17	37673784	37673784	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccgaagaagcaatatcgaAggcgtctacgagaagaattc	17	6	10	8	4	1	3	0	0	1	3	3	6	1	3	1	1	3	1	1	1	9	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:37673784A>G	ENST00000447079.4	+	10	2971	c.2938A>G	c.(2938-2940)Agg>Ggg	p.R980G	CDK12_ENST00000430627.2_Missense_Mutation_p.R980G	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	980	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCAATATCGAAGGCGTCTACG	0.473			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			26	88					0	0	0	0	G	37673784	A	G	37673784	3	3	279	1	0	0	0	0	1	0	0	0	3157	63	3	5	2976	5	CDK12	17	37673784	Missense_Mutation	SNP	A	TCGA-CV-7101-01A-11D-2012-08	18063720	37673784	43521426	184	50134											
KRTAP9-9	81870	broad.mit.edu	37	chr17	39412084	39412084	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgctgtgagaccacctgCtgcaggaccacttgcttcca	7	9	10	15	0	0	1	0	1	0	1	1	3	1	2	5	1	4	4	5	1	0	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:39412084C>A	ENST00000394008.1	+	1	449	c.447C>A	c.(445-447)tgC>tgA	p.C149*		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	149						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGACCACCTGCTGCAGGACCA	0.602													78	170					3.54697e-40	7.83896e-40	1	0	A	39412084	C	A	39412084	4	1	279	1	0	0	0	0	0	1	0	0	8630	805	28	4	449	4	KRTAP9-9	17	39412084	Nonsense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	1738300	39412084	41783126	185	50135											
KRT36	8689	broad.mit.edu	37	chr17	39644611	39644611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctacgcaggccgttgatgtCggcctccactagctgccgca	6	8	11	16	4	0	1	0	1	0	0	2	1	1	1	5	2	3	4	5	2	2	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:39644611C>T	ENST00000393986.2	-	4	645	c.433G>A	c.(433-435)Gac>Aac	p.D145N	KRT36_ENST00000328119.6_Missense_Mutation_p.D195N			O76013	KRT36_HUMAN	keratin 36	195	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCGTTGATGTCGGCCTCCACT	0.592													40	70					0	0	0	0	T	39644611	C	T	39644611	3	4	279	1	0	0	0	0	1	0	0	0	8525	884	31	1	840	1	KRT36	17	39644611	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	232527	39644611	41550599	186	50136											
GPATCH8	23131	broad.mit.edu	37	chr17	42478140	42478140	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttgggagaactgcctttTttactctctggggcattctt	5	16	11	9	0	2	1	0	0	2	1	3	2	2	1	1	4	3	2	1	4	2	6	rs143765658	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:42478140T>G	ENST00000434000.1	-	9	1353	c.1071A>C	c.(1069-1071)aaA>aaC	p.K357N	GPATCH8_ENST00000591680.1_Missense_Mutation_p.K435N			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	435						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AACTGCCTTTTTTACTCTCTG	0.443											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	181					0	0	0	0	G	42478140	T	G	42478140	3	3	279	1	0	0	0	0	1	0	0	0	6643	1838	64	5	3207	5	GPATCH8	17	42478140	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08	2833529	42478140	38717070	187	50137											
CBX1	10951	broad.mit.edu	37	chr17	46153470	46153470	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcatgtgctgttttctGtgactgcagaaactcagcaa	9	14	9	9	0	3	2	2	1	2	1	4	2	3	2	0	0	4	4	0	0	2	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:46153470G>A	ENST00000393408.3	-	3	691	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	CBX1_ENST00000495350.1_Nonsense_Mutation_p.Q71*|CBX1_ENST00000225603.4_Nonsense_Mutation_p.Q71*	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	71	Chromo 1.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						GCTGTTTTCTGTGACTGCAGA	0.483													15	74					0	0	0	0	A	46153470	G	A	46153470	4	1	279	1	0	0	0	0	0	1	0	0	2742	1386	48	4	358	4	CBX1	17	46153470	Nonsense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	3675330	46153470	35041740	188	50138											
TBCD	6904	broad.mit.edu	37	chr17	80865685	80865685	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagtgcagggcctgaagcaGattcaccagcaggtttgtgt	9	9	14	9	0	1	2	1	1	0	1	1	2	1	2	2	2	3	5	2	2	1	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:80865685G>A	ENST00000355528.4	+	21	2101	c.1971G>A	c.(1969-1971)caG>caA	p.Q657Q	TBCD_ENST00000397466.2_Silent_p.Q271Q|TBCD_ENST00000539345.2_Silent_p.Q657Q	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	657					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCCTGAAGCAGATTCACCAGC	0.617													4	13					0	0	0	0	A	80865685	G	A	80865685	2	1	279	1	0	0	0	0	0	0	0	1	15727	933	33	2		2	TBCD	17	80865685	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	34712215	80865685	329525	189	50139											
EPB41L3	23136	broad.mit.edu	37	chr18	5394794	5394794	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taattgcctgagccagcgccTatccccgggaaatcacagaa	12	7	9	13	2	1	2	1	1	0	1	2	3	2	3	5	1	3	0	5	1	4	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr18:5394794T>A	ENST00000341928.2	-	22	3494		c.e22-2		EPB41L3_ENST00000540638.2_Splice_Site|EPB41L3_ENST00000342933.3_Splice_Site|EPB41L3_ENST00000400111.3_Splice_Site|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Splice_Site|EPB41L3_ENST00000542146.1_Splice_Site|EPB41L3_ENST00000542652.2_Splice_Site	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3						cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGCCAGCGCCTATCCCCGGGA	0.473													62	64					0	0	0	0	A	5394794	T	A	5394794	5	1	279	1	0	0	0	0	0	0	1	0	5192	1536	53	5	115	5	EPB41L3	18	5394794	Splice_Site	SNP	T	TCGA-CV-7101-01A-11D-2012-08		5394794	72682454	190	50140											
CELF4	56853	broad.mit.edu	37	chr18	34855109	34855109	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcgggcccgcgcaggatGgtgcactcctcgatgttccc	4	8	13	16	5	0	0	0	0	0	0	4	2	2	1	4	3	1	3	4	3	0	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr18:34855109G>T	ENST00000420428.2	-	4	941	c.546C>A	c.(544-546)acC>acA	p.T182T	RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000361795.5_Silent_p.T181T|CELF4_ENST00000412753.1_Silent_p.T182T|CELF4_ENST00000334919.5_Silent_p.T172T|CELF4_ENST00000603232.1_Silent_p.T182T|CELF4_ENST00000588597.1_Silent_p.T171T|CELF4_ENST00000601019.1_Silent_p.T181T|CELF4_ENST00000591282.1_Silent_p.T182T|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000591287.1_Silent_p.T181T	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	182	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CGCGCAGGATGGTGCACTCCT	0.662													8	81					1.12685e-05	2.14723e-05	1	0	T	34855109	G	T	34855109	2	4	279	1	0	0	0	0	0	0	0	1	3247	1335	47	4		4	CELF4	18	34855109	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	29460315	34855109	43222139	191	50141											
ZCCHC2	54877	broad.mit.edu	37	chr18	60242731	60242731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttacaattgtggtgtaagCggacactatgcacaggactg	11	11	12	7	1	0	0	0	0	0	0	0	2	0	2	0	3	3	3	0	3	4	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr18:60242731C>T	ENST00000269499.5	+	13	3835	c.3417C>T	c.(3415-3417)agC>agT	p.S1139S	ZCCHC2_ENST00000586834.1_Silent_p.S818S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1139					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTGGTGTAAGCGGACACTATG	0.458													9	25					0	0	0	0	T	60242731	C	T	60242731	2	4	279	1	0	0	0	0	0	0	0	1	17682	767	27	1		1	ZCCHC2	18	60242731	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08	25387622	60242731	17834517	192	50142											
PARD6G	84552	broad.mit.edu	37	chr18	77917833	77917833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggctgcctgcgggcgCgcccggggtctgggggggac	3	4	23	11	4	1	1	0	0	1	1	1	3	1	2	2	8	2	1	2	8	0	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	44de281e-3382-4bfc-a40b-45f8797b9570	g.chr18:77917833C>T	ENST00000353265.3	-	3	1149	c.952G>A	c.(952-954)Gcg>Acg	p.A318T	AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	318					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CCTGCGGGCGCGCCCGGGGTC	0.731													3	5					0	0	0	0	T	77917833	C	T	77917833	3	4	279	1	0	0	0	0	1	0	0	0	11518	768	27	1	182	1	PARD6G	18	77917833	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	17675102	77917833	159415	193	50143											
XAB2	56949	broad.mit.edu	37	chr19	7685195	7685195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgagaccttgagcatCtgcgaggccatgaagttgac	9	8	12	12	2	1	4	0	3	1	1	1	6	1	4	3	1	3	2	3	1	1	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:7685195C>A	ENST00000358368.4	-	16	2269	c.2232G>T	c.(2230-2232)caG>caT	p.Q744H	XAB2_ENST00000534844.1_Missense_Mutation_p.Q741H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	744					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCTTGAGCATCTGCGAGGCCA	0.627								Direct reversal of damage;Nucleotide excision repair (NER)					6	43					3.59834e-05	6.8031e-05	1	0	A	7685195	C	A	7685195	3	1	279	1	0	0	0	0	1	0	0	0	17514	912	32	2	351	2	XAB2	19	7685195	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08		7685195	51443788	194	50144											
TIMM44	10469	broad.mit.edu	37	chr19	7997752	7997752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtgaccttgtccgtaaGggcccgggatgcccggatga	6	8	16	11	4	0	2	0	2	0	0	2	4	1	4	4	4	1	1	4	4	1	2	rs41539862		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:7997752G>A	ENST00000270538.3	-	8	1103	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	279					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TTGTCCGTAAGGGCCCGGGAT	0.632													4	84					0	0	0	0	A	7997752	G	A	7997752	3	1	279	1	0	0	0	0	1	0	0	0	16006	1000	35	4	547	4	TIMM44	19	7997752	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	312557	7997752	51131231	195	50145											
FBN3	84467	broad.mit.edu	37	chr19	8148207	8148207	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggagccaaggctgttgatGcactccccatgagcacacag	12	6	11	12	0	0	2	0	2	0	0	1	3	1	3	3	2	3	4	3	2	2	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:8148207G>T	ENST00000600128.1	-	57	7551	c.7137C>A	c.(7135-7137)tgC>tgA	p.C2379*	FBN3_ENST00000270509.2_Nonsense_Mutation_p.C2379*|FBN3_ENST00000601739.1_Nonsense_Mutation_p.C2379*			Q75N90	FBN3_HUMAN	fibrillin 3	2379	EGF-like 38; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTGTTGATGCACTCCCCAT	0.597													16	64					1.5739e-10	3.2007e-10	1	0	T	8148207	G	T	8148207	4	4	279	1	0	0	0	0	0	1	0	0	5749	1311	46	4	1324	4	FBN3	19	8148207	Nonsense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	150455	8148207	50980776	196	50146											
OR7D2	162998	broad.mit.edu	37	chr19	9296822	9296822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccgtgatggcctatgaccGgtttgtggctgtctgccacc	5	11	13	12	2	1	2	0	2	1	0	1	3	1	2	5	3	1	2	5	3	1	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:9296822G>A	ENST00000344248.2	+	1	544	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	122					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GCCTATGACCGGTTTGTGGCT	0.502													11	140					0	0	0	0	A	9296822	G	A	9296822	3	1	279	1	0	0	0	0	1	0	0	0	11290	1116	39	1	367	1	OR7D2	19	9296822	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	1148615	9296822	49832161	197	50147											
TMEM161A	54929	broad.mit.edu	37	chr19	19243544	19243544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagacagtggcttctcctCactaaggccattggcccacc	9	8	8	16	0	2	1	1	0	1	1	3	1	2	1	4	3	0	1	4	3	1	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:19243544C>T	ENST00000450333.2	-	4	245	c.208G>A	c.(208-210)Gag>Aag	p.E70K	TMEM161A_ENST00000162044.9_Missense_Mutation_p.E70K|TMEM161A_ENST00000592369.1_5'UTR|TMEM161A_ENST00000587583.2_Missense_Mutation_p.E70K	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	70					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GGCTTCTCCTCACTAAGGCCA	0.627													4	27					0	0	0	0	T	19243544	C	T	19243544	3	4	279	1	0	0	0	0	1	0	0	0	16170	835	29	2	1267	2	TMEM161A	19	19243544	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	9946722	19243544	39885439	198	50148											
ZNF100	163227	broad.mit.edu	37	chr19	21909734	21909734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaggctttgccacattcGtcacatttgtagggtttctc	8	16	8	9	1	2	0	1	0	1	0	4	0	2	0	1	2	1	3	1	2	3	6			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:21909734G>T	ENST00000358296.6	-	5	1578	c.1380C>A	c.(1378-1380)gaC>gaA	p.D460E	ZNF100_ENST00000305570.6_Missense_Mutation_p.D396E	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TGCCACATTCGTCACATTTGT	0.408													11	89					6.40141e-05	0.000120088	1	0	T	21909734	G	T	21909734	3	4	279	1	0	0	0	0	1	0	0	0	17808	1136	40	3	252	3	ZNF100	19	21909734	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	2666190	21909734	37219249	199	50149											
ZNF208	7757	broad.mit.edu	37	chr19	22156525	22156525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatgttccataaggtttgaGgaccagttgaaagctttgcc	10	14	10	7	0	0	2	0	2	0	0	1	3	1	3	3	2	2	4	3	2	3	6			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:22156525G>A	ENST00000397126.4	-	4	1459	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGGTTTGAGGACCAGTTGA	0.378													24	75					0	0	0	0	A	22156525	G	A	22156525	2	1	279	1	0	0	0	0	0	0	0	1	17861	987	35	4		4	ZNF208	19	22156525	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	246791	22156525	36972458	200	50150											
ZNF208	7757	broad.mit.edu	37	chr19	22156838	22156838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctctccagcatgaattGccttatgtgtaataagggtt	9	15	9	8	0	1	1	0	1	1	0	3	1	2	1	2	1	2	4	2	1	4	6			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:22156838G>A	ENST00000397126.4	-	4	1146	c.998C>T	c.(997-999)gCa>gTa	p.A333V	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCATGAATTGCCTTATGTGT	0.393													42	59					0	0	0	0	A	22156838	G	A	22156838	3	1	279	1	0	0	0	0	1	0	0	0	17861	1319	46	4	2848	4	ZNF208	19	22156838	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	313	22156838	36972145	201	50151											
ZNF254	9534	broad.mit.edu	37	chr19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgaagaatgtggcaaaTcttttagccaatcctcaacc	14	11	7	9	0	2	2	1	1	1	1	3	2	3	2	3	1	2	1	3	1	7	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:24310294T>G	ENST00000357002.4	+	4	1607	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	498					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAATCTTTTAGCCA	0.408													3	72					0	0	0	0	G	24310294	T	G	24310294	3	3	279	1	0	0	0	0	1	0	0	0	17893	1435	50	5	1506	5	ZNF254	19	24310294	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08	2153456	24310294	34818689	202	50152											
PLEKHF1	79156	broad.mit.edu	37	chr19	30165036	30165036	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccggagacgctgcaggccaAgaaccgctggatgatcaaga	12	4	14	11	3	1	4	1	1	0	3	1	6	1	5	3	3	2	3	3	3	3	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:30165036A>C	ENST00000436066.3	+	2	756	c.290A>C	c.(289-291)aAg>aCg	p.K97T	PLEKHF1_ENST00000592810.1_Missense_Mutation_p.K97T	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	97	PH.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CTGCAGGCCAAGAACCGCTGG	0.602													22	27					0	0	0	0	C	30165036	A	C	30165036	3	2	279	1	0	0	0	0	1	0	0	0	12138	72	3	5	292	5	PLEKHF1	19	30165036	Missense_Mutation	SNP	A	TCGA-CV-7101-01A-11D-2012-08	5854742	30165036	28963947	203	50153											
ZNF536	9745	broad.mit.edu	37	chr19	31039643	31039643	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccatcggggtcacagtCaactgcaaagaccaagcccg	14	4	9	14	2	2	1	2	0	0	1	3	1	2	1	3	2	4	1	3	2	4	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:31039643C>A	ENST00000355537.3	+	4	3264	c.3117C>A	c.(3115-3117)gtC>gtA	p.V1039V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1039					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGTCACAGTCAACTGCAAAG	0.542													17	45					3.52763e-06	6.80229e-06	1	0	A	31039643	C	A	31039643	2	1	279	1	0	0	0	0	0	0	0	1	18069	813	29	2		2	ZNF536	19	31039643	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08	874607	31039643	28089340	204	50154											
DMPK	1760	broad.mit.edu	37	chr19	46280797	46280797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaaccgctgaatgaagtCtcgagcctcctcagggaccc	10	6	10	15	2	2	2	1	2	1	0	4	4	3	3	4	1	3	2	4	1	3	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:46280797C>T	ENST00000600757.1	-	7	1651	c.964G>A	c.(964-966)Gac>Aac	p.D322N	DMPK_ENST00000354227.5_Missense_Mutation_p.D312N|DMPK_ENST00000343373.4_Missense_Mutation_p.D322N|DMPK_ENST00000447742.2_Missense_Mutation_p.D312N|DMPK_ENST00000291270.4_Missense_Mutation_p.D312N|DMPK_ENST00000458663.2_Missense_Mutation_p.D312N			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	322	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TGAATGAAGTCTCGAGCCTCC	0.652													11	59					0	0	0	0	T	46280797	C	T	46280797	3	4	279	1	0	0	0	0	1	0	0	0	4621	913	32	2	994	2	DMPK	19	46280797	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	15241154	46280797	12848186	205	50155											
SPHK2	56848	broad.mit.edu	37	chr19	49129107	49129107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctccctgcccctgccatgGggtcctgaattctcacccct	4	10	7	20	0	1	1	1	1	1	0	4	1	3	1	8	2	2	0	8	2	1	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:49129107G>A	ENST00000443164.1	+	1	890	c.185G>A	c.(184-186)gGg>gAg	p.G62E	SPHK2_ENST00000598088.1_Intron|SPHK2_ENST00000601712.1_Intron|SPHK2_ENST00000599029.1_5'UTR|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000599748.1_Intron|SPHK2_ENST00000245222.4_Intron|SPHK2_ENST00000599033.1_Intron			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	445	Required for binding to sulfatide and phosphoinositides and for membrane localization.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCCTGCCATGGGGTCCTGAAT	0.647													3	15					0	0	0	0	A	49129107	G	A	49129107	3	1	279	1	0	0	0	0	1	0	0	0	15137	1247	43	4		4	SPHK2	19	49129107	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	2848310	49129107	9999876	206	50156											
LHB	3972	broad.mit.edu	37	chr19	49519449	49519449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctgagagccacagggaagGagaccacggggtccacacca	13	2	14	12	1	0	2	0	1	0	2	1	5	1	3	4	4	2	1	4	4	1	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:49519449G>A	ENST00000221421.2	-	3	301	c.302C>T	c.(301-303)tCc>tTc	p.S101F		NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	101					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	CACAGGGAAGGAGACCACGGG	0.672													5	104					0	0	0	0	A	49519449	G	A	49519449	3	1	279	1	0	0	0	0	1	0	0	0	8815	1174	41	2	127	2	LHB	19	49519449	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	390342	49519449	9609534	207	50157											
CPT1C	126129	broad.mit.edu	37	chr19	50209265	50209265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaacagcctgctttcccCgagagccctggagcagcagt	9	6	11	15	2	0	1	0	0	0	1	1	4	1	2	5	1	6	3	5	1	1	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:50209265C>A	ENST00000392518.4	+	11	1436	c.1064C>A	c.(1063-1065)cCg>cAg	p.P355Q	CPT1C_ENST00000598293.1_Missense_Mutation_p.P355Q|CPT1C_ENST00000405931.2_Missense_Mutation_p.P344Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.P355Q|CPT1C_ENST00000354199.5_Missense_Mutation_p.P355Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	355					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGCTTTCCCCGAGAGCCCTG	0.612													4	69					0.00024832	0.000460486	1	0	A	50209265	C	A	50209265	3	1	279	1	0	0	0	0	1	0	0	0	3863	652	23	3	1098	3	CPT1C	19	50209265	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	689816	50209265	8919718	208	50158											
ZNF701	55762	broad.mit.edu	37	chr19	53086647	53086647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtaatgaatgtggcaaGgtttttaatcgaaaatcaaa	17	12	9	3	1	1	1	1	1	0	0	2	2	1	1	0	2	0	3	0	2	8	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:53086647G>T	ENST00000540331.1	+	5	1758	c.1533G>T	c.(1531-1533)aaG>aaT	p.K511N	ZNF701_ENST00000301093.2_Missense_Mutation_p.K511N|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.K445N	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AATGTGGCAAGGTTTTTAATC	0.348													17	33					5.03518e-11	1.02828e-10	1	0	T	53086647	G	T	53086647	3	4	279	1	0	0	0	0	1	0	0	0	18200	991	35	4	1547	4	ZNF701	19	53086647	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	2877382	53086647	6042336	209	50159											
LILRA5	353514	broad.mit.edu	37	chr19	54823182	54823182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctctgaccagcctgcagGgctgtagtagtaacagcggt	8	8	15	10	1	1	1	0	1	1	0	1	1	1	1	2	3	4	6	2	3	3	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:54823182G>A	ENST00000301219.3	-	4	480	c.361C>T	c.(361-363)Cct>Tct	p.P121S	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.P109S|LILRA5_ENST00000346508.3_Missense_Mutation_p.P109S|LILRA5_ENST00000432233.3_Missense_Mutation_p.P121S	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	121	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCCTGCAGGGCTGTAGTAG	0.612													48	141					0	0	0	0	A	54823182	G	A	54823182	3	1	279	1	0	0	0	0	1	0	0	0	8842	1232	43	4	640	4	LILRA5	19	54823182	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	1736535	54823182	4305801	210	50160											
KIR2DL1	3802	broad.mit.edu	37	chr19	55286879	55286879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccatacgagtggtcaaaGtcaagtgacccactgcttgt	10	11	9	11	1	3	1	2	1	1	0	4	2	3	1	2	1	2	1	2	1	3	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:55286879G>T	ENST00000336077.6	+	4	673	c.633G>T	c.(631-633)aaG>aaT	p.K211N	KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.K211N|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	211					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AGTGGTCAAAGTCAAGTGACC	0.547													14	188					0.000308642	0.000570163	1	0	T	55286879	G	T	55286879	3	4	279	1	0	0	0	0	1	0	0	0	8368	1020	36	4	647	4	KIR2DL1	19	55286879	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	463697	55286879	3842104	211	50161											
FCAR	2204	broad.mit.edu	37	chr19	55399565	55399565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttgggtcctgtggacCtcaatgtctcagggatctac	6	14	10	11	0	4	0	2	0	3	0	7	2	5	2	2	3	1	0	2	3	2	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:55399565C>T	ENST00000355524.3	+	4	563	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	FCAR_ENST00000391723.3_Missense_Mutation_p.L173F|FCAR_ENST00000391725.3_Missense_Mutation_p.L185F|FCAR_ENST00000391724.3_Missense_Mutation_p.L173F|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Missense_Mutation_p.L76F|FCAR_ENST00000359272.4_Missense_Mutation_p.L173F|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000469767.1_Missense_Mutation_p.L185F|FCAR_ENST00000345937.4_Intron	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	185	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCCTGTGGACCTCAATGTCTC	0.537													8	17					0	0	0	0	T	55399565	C	T	55399565	3	4	279	1	0	0	0	0	1	0	0	0	5818	681	24	4	567	4	FCAR	19	55399565	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	112686	55399565	3729418	212	50162											
NLRP2	55655	broad.mit.edu	37	chr19	55501499	55501499	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacaatgagcttctggatGagggtgctaagttgctgtac	9	11	13	8	1	1	2	0	2	1	0	1	4	1	3	1	2	4	5	1	2	3	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:55501499G>T	ENST00000543010.1	+	9	2619	c.2476G>T	c.(2476-2478)Gag>Tag	p.E826*	NLRP2_ENST00000538819.1_Nonsense_Mutation_p.E802*|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.E804*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.E803*|NLRP2_ENST00000391721.4_Nonsense_Mutation_p.E802*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.E826*|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.E804*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.E823*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	826					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTTCTGGATGAGGGTGCTAA	0.517													19	65					3.70931e-20	7.97915e-20	1	0	T	55501499	G	T	55501499	4	4	279	1	0	0	0	0	0	1	0	0	10547	1291	45	2	2506	2	NLRP2	19	55501499	Nonsense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	101934	55501499	3627484	213	50163											
NLRP9	338321	broad.mit.edu	37	chr19	56220313	56220313	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgatcttgtattcctcgtCaatccaaggtccatgtgaaa	10	13	7	11	1	2	2	1	2	1	0	6	2	5	2	4	1	0	1	4	1	4	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:56220313C>G	ENST00000332836.2	-	9	2968	c.2941G>C	c.(2941-2943)Gac>Cac	p.D981H	CTD-2611O12.8_ENST00000596293.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	981						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TATTCCTCGTCAATCCAAGGT	0.488													9	72					0	0	0	0	G	56220313	C	G	56220313	3	3	279	1	0	0	0	0	1	0	0	0	10554	826	29	2	38	2	NLRP9	19	56220313	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	718814	56220313	2908670	214	50164											
PEG3	5178	broad.mit.edu	37	chr19	57327825	57327825	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaataaaggtttcctcaCacactttacccttgttttca	11	14	5	11	0	2	0	2	0	0	0	3	1	3	1	2	2	1	2	2	2	4	7			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:57327825C>A	ENST00000326441.9	-	10	2348	c.1985G>T	c.(1984-1986)tGt>tTt	p.C662F	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.C662F|PEG3_ENST00000593695.1_Missense_Mutation_p.C536F|PEG3_ENST00000598410.1_Missense_Mutation_p.C538F|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	662					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTTTCCTCACACACTTTACC	0.438													27	91					1.26454e-06	2.4679e-06	1	0	A	57327825	C	A	57327825	3	1	279	1	0	0	0	0	1	0	0	0	11791	478	17	4	2785	4	PEG3	19	57327825	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	1107512	57327825	1801158	215	50165											
THBD	7056	broad.mit.edu	37	chr20	23029759	23029759	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccgcagaggggagccccaTtgaggtcgagccgtgcccac	7	4	16	14	3	0	2	0	1	0	1	1	4	0	3	5	4	3	1	5	4	0	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr20:23029759T>C	ENST00000377103.2	-	1	619	c.383A>G	c.(382-384)aAt>aGt	p.N128S		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	128	C-type lectin.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GGGAGCCCCATTGAGGTCGAG	0.677													3	8					0	0	0	0	C	23029759	T	C	23029759	3	2	279	1	0	0	0	0	1	0	0	0	15946	1493	52	5	1348	5	THBD	20	23029759	Missense_Mutation	SNP	T	TCGA-CV-7101-01A-11D-2012-08		23029759	39995761	216	50166											
ACSS2	55902	broad.mit.edu	37	chr20	33470765	33470765	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgaaatgtccatgagaaaaAgcttggagataaagttgctt	15	11	10	5	1	0	2	0	1	0	2	2	5	1	2	1	1	2	3	1	1	5	4			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr20:33470765A>T	ENST00000360596.2	+	2	558	c.347A>T	c.(346-348)aAg>aTg	p.K116M	ACSS2_ENST00000476922.1_3'UTR|ACSS2_ENST00000336325.4_Missense_Mutation_p.K66M|ACSS2_ENST00000253382.5_Missense_Mutation_p.K116M	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	116					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATGAGAAAAAGCTTGGAGAT	0.353													4	22					0	0	0	0	T	33470765	A	T	33470765	3	4	279	1	0	0	0	0	1	0	0	0	189	72	3	5	353	5	ACSS2	20	33470765	Missense_Mutation	SNP	A	TCGA-CV-7101-01A-11D-2012-08	10441006	33470765	29554755	217	50167											
CPNE1	8904	broad.mit.edu	37	chr20	34214297	34214297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctgtgccaatgcctcccGaggggcctgccaagaaaagg	9	6	14	12	1	1	1	0	0	1	1	2	2	2	1	5	4	3	0	5	4	4	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr20:34214297G>A	ENST00000317619.3	-	18	1874	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	CPNE1_ENST00000397442.1_Missense_Mutation_p.R438W|CPNE1_ENST00000352393.4_Missense_Mutation_p.R494W|CPNE1_ENST00000397446.1_Missense_Mutation_p.R494W|CPNE1_ENST00000397443.1_Missense_Mutation_p.R494W|CPNE1_ENST00000397445.1_Missense_Mutation_p.R494W|CPNE1_ENST00000317677.5_Missense_Mutation_p.R499W			Q99829	CPNE1_HUMAN	copine I	494	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AATGCCTCCCGAGGGGCCTGC	0.572													27	67					0	0	0	0	A	34214297	G	A	34214297	3	1	279	1	0	0	0	0	1	0	0	0	3841	1057	37	1	137	1	CPNE1	20	34214297	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	743532	34214297	28811223	218	50168											
MATN4	8785	broad.mit.edu	37	chr20	43929779	43929779	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctgcaagtcatggccCtctctgcagtggcaccgtgg	6	9	13	13	1	3	0	2	0	1	0	4	0	3	0	2	4	2	4	2	4	1	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr20:43929779C>T	ENST00000537548.1	-	6	1096	c.852G>A	c.(850-852)gaG>gaA	p.E284E	MATN4_ENST00000372754.1_Silent_p.E325E|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372756.1_Silent_p.E284E|MATN4_ENST00000342716.4_Silent_p.E284E|MATN4_ENST00000372753.1_Silent_p.E135E|MATN4_ENST00000372751.4_Silent_p.E135E|MATN4_ENST00000360607.5_Silent_p.E243E			O95460	MATN4_HUMAN	matrilin 4	325	EGF-like 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGTCATGGCCCTCTCTGCAGT	0.582											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	51					0	0	0	0	T	43929779	C	T	43929779	2	4	279	1	0	0	0	0	0	0	0	1	9405	680	24	4		4	MATN4	20	43929779	Silent	SNP	C	TCGA-CV-7101-01A-11D-2012-08	9715482	43929779	19095741	219	50169											
DOPEY2	9980	broad.mit.edu	37	chr21	37617523	37617523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgagaagtacccgctgcgagGcgagctgagcgaggaagagc	11	3	17	10	5	0	3	0	1	0	2	0	8	0	4	1	2	5	3	1	2	3	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr21:37617523G>A	ENST00000399151.3	+	19	3330	c.3245G>A	c.(3244-3246)gGc>gAc	p.G1082D		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1082					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCGCTGCGAGGCGAGCTGAGC	0.632													4	34					0	0	0	0	A	37617523	G	A	37617523	3	1	279	1	0	0	0	0	1	0	0	0	4744	1203	42	4	3315	4	DOPEY2	21	37617523	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08		37617523	10512372	220	50170											
MICAL3	57553	broad.mit.edu	37	chr22	18384651	18384651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagaccaataccttccaaGgtgttcctccgaccatcccc	10	8	5	18	1	0	1	0	0	0	1	4	2	4	1	8	1	1	1	8	1	3	3			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:18384651G>A	ENST00000441493.2	-	5	1036	c.684C>T	c.(682-684)acC>acT	p.T228T	MICAL3_ENST00000429452.1_Silent_p.T228T|MICAL3_ENST00000207726.7_Silent_p.T228T|MICAL3_ENST00000400561.2_Silent_p.T228T|MICAL3_ENST00000414725.2_Silent_p.T228T|MICAL3_ENST00000383094.3_Silent_p.T228T|MICAL3_ENST00000585038.1_Silent_p.T228T|MICAL3_ENST00000444520.1_Silent_p.T228T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	228						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TACCTTCCAAGGTGTTCCTCC	0.562													6	29					0	0	0	0	A	18384651	G	A	18384651	2	1	279	1	0	0	0	0	0	0	0	1	9640	987	35	4		4	MICAL3	22	18384651	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08		18384651	32919915	221	50171											
HIRA	7290	broad.mit.edu	37	chr22	19344526	19344526	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagacggcgaccacaggtGgagaacactgacagcatcct	13	4	13	11	2	0	3	0	1	0	2	1	6	1	3	2	4	2	1	2	4	1	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:19344526G>T	ENST00000263208.5	-	19	2539	c.2283C>A	c.(2281-2283)tcC>tcA	p.S761S	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000546308.1_Silent_p.S717S|HIRA_ENST00000541063.1_Silent_p.S717S	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	761	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GACCACAGGTGGAGAACACTG	0.592													15	166					1.15088e-07	2.27357e-07	1	0	T	19344526	G	T	19344526	2	4	279	1	0	0	0	0	0	0	0	1	7170	1335	47	4		4	HIRA	22	19344526	Silent	SNP	G	TCGA-CV-7101-01A-11D-2012-08	959875	19344526	31960040	222	50172											
GGT5	2687	broad.mit.edu	37	chr22	24640644	24640644	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caatgacagccagcgccagcCccagacccagcaggactagg	12	2	11	16	1	0	2	0	1	0	1	0	3	0	3	5	2	4	1	5	2	2	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:24640644C>G	ENST00000327365.4	-	1	466	c.50G>C	c.(49-51)gGg>gCg	p.G17A	GGT5_ENST00000263112.7_Missense_Mutation_p.G17A|GGT5_ENST00000398292.3_Missense_Mutation_p.G17A|GGT5_ENST00000418439.2_Missense_Mutation_p.G17A	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	17					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CAGCGCCAGCCCCAGACCCAG	0.706													3	34					0	0	0	0	G	24640644	C	G	24640644	3	3	279	1	0	0	0	0	1	0	0	0	6413	623	22	4	1761	4	GGT5	22	24640644	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	5296118	24640644	26663922	223	50173											
DEPDC5	9681	broad.mit.edu	37	chr22	32198787	32198787	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctttgaagtggaccgcctActcatgatcctgaccaagca	10	10	9	12	1	2	3	1	3	1	0	3	4	3	4	4	1	2	1	4	1	3	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:32198787A>T	ENST00000400246.1	+	15	1186	c.1044A>T	c.(1042-1044)ctA>ctT	p.L348L	DEPDC5_ENST00000400242.3_Silent_p.L348L|DEPDC5_ENST00000266091.3_Silent_p.L348L|DEPDC5_ENST00000536766.1_Silent_p.L320L|DEPDC5_ENST00000382111.2_Silent_p.L348L|DEPDC5_ENST00000400249.2_Silent_p.L348L|DEPDC5_ENST00000535622.1_Silent_p.L348L|DEPDC5_ENST00000382112.3_Silent_p.L348L|DEPDC5_ENST00000382105.2_Silent_p.L348L|DEPDC5_ENST00000400248.1_Silent_p.L348L			O75140	DEPD5_HUMAN	DEP domain containing 5	348					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGACCGCCTACTCATGATCC	0.502													21	56					0	0	0	0	T	32198787	A	T	32198787	2	4	279	1	0	0	0	0	0	0	0	1	4479	378	14	5		5	DEPDC5	22	32198787	Silent	SNP	A	TCGA-CV-7101-01A-11D-2012-08	7558143	32198787	19105779	224	50174											
MEI1	150365	broad.mit.edu	37	chr22	42128529	42128529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgcagagatgctggccGtgccctccaagaagcagtta	10	8	12	11	1	0	2	0	0	0	2	1	3	1	2	3	1	4	4	3	1	3	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:42128529G>A	ENST00000401548.3	+	11	1293	c.1253G>A	c.(1252-1254)cGt>cAt	p.R418H	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.R158H|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	418							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GATGCTGGCCGTGCCCTCCAA	0.552													23	39					0	0	0	0	A	42128529	G	A	42128529	3	1	279	1	0	0	0	0	1	0	0	0	9534	1145	40	1	1295	1	MEI1	22	42128529	Missense_Mutation	SNP	G	TCGA-CV-7101-01A-11D-2012-08	9929742	42128529	9176037	225	50175											
PLXNB2	23654	broad.mit.edu	37	chr22	50727541	50727541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcgggtagggcaggtgctCcgagccacatgggaagctct	8	6	16	11	2	1	0	0	0	1	0	2	2	2	1	2	4	4	4	2	4	2	1			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:50727541C>T	ENST00000449103.1	-	4	1239	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E367K			O15031	PLXB2_HUMAN	plexin B2	367	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGGTGCTCCGAGCCACAT	0.692													7	9					0	0	0	0	T	50727541	C	T	50727541	3	4	279	1	0	0	0	0	1	0	0	0	12196	864	30	2	4553	2	PLXNB2	22	50727541	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	8599012	50727541	577025	226	50176											
ARSF	416	broad.mit.edu	37	chrX	3021856	3021856	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgtcccaggaattgtcCgatggcctggaaaggtacca	9	8	12	12	3	0	0	0	0	0	0	3	3	3	2	5	4	1	1	5	4	3	2			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chrX:3021856C>T	ENST00000381127.1	+	9	1377	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	ARSF_ENST00000537104.1_Nonsense_Mutation_p.R386*|ARSF_ENST00000359361.2_Nonsense_Mutation_p.R386*	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	386						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGAATTGTCCGATGGCCTGG	0.458													12	11					0	0	0	0	T	3021856	C	T	3021856	4	4	279	1	0	0	0	0	0	1	0	0	995	644	23	1	1186	1	ARSF	23	3021856	Nonsense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08		3021856	152248704	227	50177											
MID1	4281	broad.mit.edu	37	chrX	10437743	10437743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagatactcactaacgaCgttggcttgtccggtgaata	11	11	10	9	3	1	2	1	2	0	1	2	4	2	2	1	2	2	2	1	2	4	5			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chrX:10437743C>T	ENST00000317552.4	-	7	1679	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	MID1_ENST00000380785.1_Missense_Mutation_p.V427I|MID1_ENST00000453318.2_Missense_Mutation_p.V427I|MID1_ENST00000380779.1_Missense_Mutation_p.V427I|MID1_ENST00000380780.1_Missense_Mutation_p.V427I|MID1_ENST00000380782.2_Missense_Mutation_p.V427I|MID1_ENST00000380787.1_Missense_Mutation_p.V427I	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	427	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCACTAACGACGTTGGCTTGT	0.443													21	37					0	0	0	0	T	10437743	C	T	10437743	3	4	279	1	0	0	0	0	1	0	0	0	9645	536	19	1	740	1	MID1	23	10437743	Missense_Mutation	SNP	C	TCGA-CV-7101-01A-11D-2012-08	7415887	10437743	144832817	228	50178											
MAGEA1	4100	broad.mit.edu	37	chrX	152483002	152483002	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcagactcctctgctcAagagacatgatgactctcgt	10	10	9	12	1	3	4	1	2	2	2	5	5	4	4	1	0	2	2	1	0	1	0			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chrX:152483002A>T	ENST00000356661.5	-	3	227	c.9T>A	c.(7-9)ctT>ctA	p.L3L		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	3						cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTGCTCAAGAGACATGA	0.622													36	18					0	0	0	0	T	152483002	A	T	152483002	2	4	279	1	0	0	0	0	0	0	0	1	9228	117	5	5		5	MAGEA1	23	152483002	Silent	SNP	A	TCGA-CV-7101-01A-11D-2012-08	142045259	152483002	2787558	229	50179											
VPS13D	55187	broad.mit.edu	37	chr1	12443108	12443108	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacttccatggagctttTggggccagttccacctgaac	8	11	10	12	0	0	2	0	2	0	0	2	3	2	3	4	3	2	2	4	3	1	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:12443108T>G	ENST00000358136.3	+	58	11394	c.11264T>G	c.(11263-11265)tTg>tGg	p.L3755W	VPS13D_ENST00000356315.4_Missense_Mutation_p.L3730W|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3754					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGGAGCTTTTGGGGCCAGTT	0.433													49	102					0	0	0	0	G	12443108	T	G	12443108	3	3	280	1	0	0	0	0	1	0	0	0	17288	1821	63	5	11490	5	VPS13D	1	12443108	Missense_Mutation	SNP	T	TCGA-CV-7102-01A-11D-2012-08		12443108	236807513	1	50180											
EIF4G3	8672	broad.mit.edu	37	chr1	21186878	21186878	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggattccggcctcacCtggtcttctcttctctttgg	2	16	10	13	1	4	0	1	0	3	0	7	1	5	1	3	5	0	0	3	5	0	4	rs10916883		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:21186878C>A	ENST00000602326.1	-	22	3677	c.3094_splice	c.e22+1	p.G1032_splice	EIF4G3_ENST00000400422.1_Splice_Site_p.G1026_splice|EIF4G3_ENST00000374935.3_Splice_Site_p.G746_splice|EIF4G3_ENST00000374937.3_Splice_Site_p.G1032_splice|EIF4G3_ENST00000264211.8_Splice_Site_p.G1026_splice|EIF4G3_ENST00000536266.1_Splice_Site_p.G630_splice|EIF4G3_ENST00000537738.1_Splice_Site_p.G516_splice	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1026					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CCGGCCTCACCTGGTCTTCTC	0.393													39	108					2.47872e-24	4.94278e-24	1	0	A	21186878	C	A	21186878	5	1	280	1	0	0	0	0	0	0	1	0	5076	695	24	4	1737	4	EIF4G3	1	21186878	Splice_Site	SNP	C	TCGA-CV-7102-01A-11D-2012-08	8743770	21186878	228063743	2	50181											
KIAA0319L	79932	broad.mit.edu	37	chr1	35919263	35919263	+	Missense_Mutation	SNP	G	G	C																															tcagctctttatctgggcctGcatctgcctgaggaggctta																										TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:35919263G>C	ENST00000325722.3	-	12	2042	c.1808C>G	c.(1807-1809)gCa>gGa	p.A603G	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.A40G|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	603	PKD 4.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATCTGGGCCTGCATCTGCCTG	0.473													8	39					0	0	0	0	C	35919263	G	C	35919263	3	2	280	1	0	0	0	0	1	0	0	0	8220	1319	46	4	1381	4	KIAA0319L	1	35919263	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	14732385	35919263	213331358	3	50182	395	2									
KIAA0319L	79932	broad.mit.edu	37	chr1	35919264	35919264	+	Missense_Mutation	SNP	C	C	G																															cagctctttatctgggcctgCatctgcctgaggaggcttat																										TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:35919264C>G	ENST00000325722.3	-	12	2041	c.1807G>C	c.(1807-1809)Gca>Cca	p.A603P	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.A40P|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	603	PKD 4.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTGGGCCTGCATCTGCCTGA	0.478													8	39					0	0	0	0	G	35919264	C	G	35919264	3	3	280	1	0	0	0	0	1	0	0	0	8220	710	25	4	1382	4	KIAA0319L	1	35919264	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	1	35919264	213331357	4	50183	395	2									
SLC2A1	6513	broad.mit.edu	37	chr1	43396789	43396789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacagaaaagatggccactGagagggaccagagcgtggtg	14	4	15	8	1	0	4	0	1	0	4	0	6	0	5	2	3	2	0	2	3	3	0			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:43396789G>A	ENST00000426263.3	-	3	381	c.203C>T	c.(202-204)tCa>tTa	p.S68L	SLC2A1_ENST00000415851.2_Missense_Mutation_p.S68L|SLC2A1_ENST00000372500.3_Missense_Mutation_p.S68L|SLC2A1_ENST00000475162.1_5'UTR	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	68					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GATGGCCACTGAGAGGGACCA	0.592											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	55					0	0	0	0	A	43396789	G	A	43396789	3	1	280	1	0	0	0	0	1	0	0	0	14626	1294	45	2	1307	2	SLC2A1	1	43396789	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	7477525	43396789	205853832	5	50184											
C8A	731	broad.mit.edu	37	chr1	57378266	57378266	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgccgcctgggtagctTgggtgctgcctgtgagcaaa	6	9	15	11	1	0	1	0	1	0	0	0	1	0	1	4	2	5	4	4	2	2	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:57378266T>G	ENST00000361249.3	+	10	1667	c.1571T>G	c.(1570-1572)tTg>tGg	p.L524W		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	524	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTGGGTAGCTTGGGTGCTGCC	0.592													11	82					0	0	0	0	G	57378266	T	G	57378266	3	3	280	1	0	0	0	0	1	0	0	0	2439	1821	63	5	1609	5	C8A	1	57378266	Missense_Mutation	SNP	T	TCGA-CV-7102-01A-11D-2012-08	13981477	57378266	191872355	6	50185											
SYDE2	84144	broad.mit.edu	37	chr1	85656306	85656307	+	Frame_Shift_Ins	INS	-	-	A																															aggcctcagagtactctgatINSatagccaattgcgtttcttt																										TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:85656306_85656307insA	ENST00000341460.5	-	2	923_924	c.874_875insT	c.(874-876)tcafs	p.S292fs		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	292					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AGTACTCTGATATAGCCAATTG	0.381													58	127	---	---	---	---					A	85656307	-	A	85656306	7	5	280	1	0	1	1	0	0	0	0	0	15527	1406	49	0	2733	0	SYDE2	1	85656306	Frame_Shift_Ins	INS	-	TCGA-CV-7102-01A-11D-2012-08	28278040	85656306	163594315	7	50186											
GBP7	388646	broad.mit.edu	37	chr1	89616203	89616203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcacttctgttttggaaaGaaatgcctgatccactccct	11	12	7	11	0	1	2	0	1	1	1	3	3	3	3	3	1	2	2	3	1	3	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:89616203G>T	ENST00000294671.2	-	6	819	c.681C>A	c.(679-681)ttC>ttA	p.F227L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	227						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GTTTTGGAAAGAAATGCCTGA	0.393													37	50					8.73648e-17	1.72175e-16	1	0	T	89616203	G	T	89616203	3	4	280	1	0	0	0	0	1	0	0	0	6328	933	33	2	1259	2	GBP7	1	89616203	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	3959897	89616203	159634418	8	50187											
CLK2	1196	broad.mit.edu	37	chr1	155234561	155234561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcacactgcgctcatctCgcttctaggagcagaggaga	9	10	10	12	2	5	2	2	0	3	2	6	4	5	3	0	2	2	3	0	2	1	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:155234561C>T	ENST00000368361.4	-	9	1253	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	CLK2_ENST00000361168.5_Missense_Mutation_p.R312Q|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Missense_Mutation_p.R311Q|CLK2_ENST00000536801.1_Missense_Mutation_p.R313Q			P49760	CLK2_HUMAN	CDC-like kinase 2	313	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCGCTCATCTCGCTTCTAGGA	0.507								Other conserved DNA damage response genes					27	31					0	0	0	0	T	155234561	C	T	155234561	3	4	280	1	0	0	0	0	1	0	0	0	3567	884	31	1	581	1	CLK2	1	155234561	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	65618358	155234561	94016060	9	50188											
ETV3L	440695	broad.mit.edu	37	chr1	157062482	157062482	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgctttgaggttctccaGattgggggaagtaaggcttt	8	13	13	7	0	1	2	0	1	1	1	2	3	1	3	1	4	1	4	1	4	2	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:157062482G>C	ENST00000454449.2	-	5	1329	c.1045C>G	c.(1045-1047)Ctg>Gtg	p.L349V		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	349						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				AGGTTCTCCAGATTGGGGGAA	0.562													5	53					0	0	0	0	C	157062482	G	C	157062482	3	2	280	1	0	0	0	0	1	0	0	0	5318	933	33	2	44	2	ETV3L	1	157062482	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	1827921	157062482	92188139	10	50189											
MNDA	4332	broad.mit.edu	37	chr1	158817523	158817523	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcttcttttgcagaaaagCgtacacaagaagaacacaat	18	9	6	8	1	2	3	0	0	2	3	2	3	2	3	0	0	4	2	0	0	8	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:158817523C>T	ENST00000368141.4	+	6	1254	c.993C>T	c.(991-993)agC>agT	p.S331S		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	331	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.S331S(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TGCAGAAAAGCGTACACAAGA	0.368													9	40					0	0	0	0	T	158817523	C	T	158817523	2	4	280	1	0	0	0	0	0	0	0	1	9746	767	27	1		1	MNDA	1	158817523	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	1755041	158817523	90433098	11	50190											
ASPM	259266	broad.mit.edu	37	chr1	197115515	197115515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccccgcgggcggcctcCgctcggtcgggctcacttcc	2	6	14	19	6	1	0	1	0	0	0	5	0	3	0	5	4	1	3	5	4	0	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:197115515C>T	ENST00000367409.4	-	1	309	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	ASPM_ENST00000294732.7_Missense_Mutation_p.R18Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	18					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						gggcggcctccgctcggtcgg	0.711													10	44					0	0	0	0	T	197115515	C	T	197115515	3	4	280	1	0	0	0	0	1	0	0	0	1060	652	23	1	10492	1	ASPM	1	197115515	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	38297992	197115515	52135106	12	50191											
ELF3	1999	broad.mit.edu	37	chr1	201981088	201981088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcctggcccttgcagagaAggccagctggttgggggaac	7	7	16	11	0	0	1	0	0	0	1	0	3	0	2	3	5	4	3	3	5	2	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:201981088A>G	ENST00000359651.3	+	2	3359	c.167A>G	c.(166-168)aAg>aGg	p.K56R	ELF3_ENST00000495848.1_3'UTR|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.K56R|ELF3_ENST00000367284.5_Missense_Mutation_p.K56R			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	56	PNT.			EK -> GE (in Ref. 7; CAD29859).	epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CTTGCAGAGAAGGCCAGCTGG	0.547													70	110					0	0	0	0	G	201981088	A	G	201981088	3	3	280	1	0	0	0	0	1	0	0	0	5093	72	3	5	173	5	ELF3	1	201981088	Missense_Mutation	SNP	A	TCGA-CV-7102-01A-11D-2012-08	4865573	201981088	47269533	13	50192											
PTPN7	5778	broad.mit.edu	37	chr1	202121757	202121757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgcagcaggggcccagctGattctggtgtctgatggtct	5	10	16	10	1	3	2	0	2	3	0	3	2	3	2	1	5	2	3	1	5	0	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:202121757G>A	ENST00000309017.3	-	8	1876	c.1103C>T	c.(1102-1104)tCa>tTa	p.S368L	PTPN7_ENST00000543735.1_Missense_Mutation_p.S92L|PTPN7_ENST00000544762.1_Missense_Mutation_p.S39L|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.S302L|PTPN7_ENST00000308986.5_Missense_Mutation_p.S263L	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	263						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GGGCCCAGCTGATTCTGGTGT	0.622													23	45					0	0	0	0	A	202121757	G	A	202121757	3	1	280	1	0	0	0	0	1	0	0	0	12875	1294	45	2	306	2	PTPN7	1	202121757	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	140669	202121757	47128864	14	50193											
C2orf16	84226	broad.mit.edu	37	chr2	27803074	27803074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcttccaagagtcctaCttccacaatagatttgcagt	12	12	6	11	0	1	2	1	0	0	2	4	2	4	2	3	0	3	2	3	0	5	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:27803074C>T	ENST00000408964.2	+	1	3686	c.3635C>T	c.(3634-3636)aCt>aTt	p.T1212I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1212										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAGAGTCCTACTTCCACAATA	0.468													20	107					0	0	0	0	T	27803074	C	T	27803074	3	4	280	1	0	0	0	0	1	0	0	0	2177	565	20	4	3637	4	C2orf16	2	27803074	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08		27803074	215396299	15	50194											
LRPPRC	10128	broad.mit.edu	37	chr2	44209427	44209427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagaagcttctttggaatgCggccagttcttcgaacagaa	11	11	11	8	2	2	2	0	0	2	2	3	4	2	3	1	2	3	3	1	2	5	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:44209427C>T	ENST00000260665.7	-	2	353	c.296G>A	c.(295-297)cGc>cAc	p.R99H	LRPPRC_ENST00000409946.1_Missense_Mutation_p.R99H|LRPPRC_ENST00000409659.1_Missense_Mutation_p.R99H	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	99					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTTGGAATGCGGCCAGTTCT	0.383													9	44					0	0	0	0	T	44209427	C	T	44209427	3	4	280	1	0	0	0	0	1	0	0	0	9029	768	27	1	4036	1	LRPPRC	2	44209427	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	16406353	44209427	198989946	16	50195											
XPO1	7514	broad.mit.edu	37	chr2	61711150	61711150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtttaaactgtgtaggtgGaatagcaaggaatgctggga	14	10	14	3	0	0	0	0	0	0	0	0	3	0	3	0	4	3	4	0	4	8	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:61711150G>A	ENST00000401558.2	-	21	3326	c.2599C>T	c.(2599-2601)Cca>Tca	p.P867S	XPO1_ENST00000404992.2_Missense_Mutation_p.P867S|XPO1_ENST00000406957.1_Missense_Mutation_p.P867S|RP11-355B11.2_ENST00000578974.2_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	867					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGTGTAGGTGGAATAGCAAGG	0.348			Mis		CLL								13	71					0	0	0	0	A	61711150	G	A	61711150	3	1	280	1	0	0	0	0	1	0	0	0	17541	1174	41	2	636	2	XPO1	2	61711150	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	17501723	61711150	181488223	17	50196											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96993068	96993068	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaccctccatgagacccaGaaatttgatatcctggtgcc	11	9	9	12	0	0	3	0	2	0	2	2	5	2	4	5	2	2	0	5	2	3	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:96993068G>C	ENST00000361124.4	+	1	1134	c.723G>C	c.(721-723)caG>caC	p.Q241H	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.Q225H|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.Q225H|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.Q233H	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	233						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGAGACCCAGAAATTTGATA	0.612													18	48					0	0	0	0	C	96993068	G	C	96993068	3	2	280	1	0	0	0	0	1	0	0	0	7977	933	33	2	739	2	ITPRIPL1	2	96993068	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	35281918	96993068	146206305	18	50197											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257054	114257054	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcttccccgagagcacaTcgagggcggcggcccgagcg	6	4	16	15	7	0	1	0	0	0	1	2	4	1	1	3	3	3	2	3	3	0	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:114257054T>A	ENST00000306507.5	+	1	394	c.221T>A	c.(220-222)aTc>aAc	p.I74N		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	74					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CGAGAGCACATCGAGGGCGGC	0.701													19	41					0	0	0	0	A	114257054	T	A	114257054	3	1	280	1	0	0	0	0	1	0	0	0	6045	1435	50	5	223	5	FOXD4L1	2	114257054	Missense_Mutation	SNP	T	TCGA-CV-7102-01A-11D-2012-08	17263986	114257054	128942319	19	50198											
TFCP2L1	29842	broad.mit.edu	37	chr2	122038715	122038715	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttggttgaggtaggtcagCgtctcttcatgcagcttcac	6	13	11	11	1	4	1	3	1	1	0	5	1	4	1	1	3	3	4	1	3	1	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:122038715C>T	ENST00000263707.5	-	2	292	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	65					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GGTAGGTCAGCGTCTCTTCAT	0.627													12	69					0	0	0	0	T	122038715	C	T	122038715	2	4	280	1	0	0	0	0	0	0	0	1	15890	755	27	1		1	TFCP2L1	2	122038715	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	7781661	122038715	121160658	20	50199											
TANC1	85461	broad.mit.edu	37	chr2	160085398	160085399	+	Frame_Shift_Ins	INS	-	-	A																															gccagagcaagagcgaagagINSaaatagcaggtaccgtctgt																										TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:160085398_160085399insA	ENST00000263635.6	+	26	4379_4380	c.4142_4143insA	c.(4141-4143)aaafs	p.K1381fs	TANC1_ENST00000454300.1_Frame_Shift_Ins_p.K1275fs	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1381						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGAGCGAAGAGAAATAGCAGGT	0.47													40	96	---	---	---	---					A	160085399	-	A	160085398	7	5	280	1	0	1	1	0	0	0	0	0	15635	942	33	0	4236	0	TANC1	2	160085398	Frame_Shift_Ins	INS	-	TCGA-CV-7102-01A-11D-2012-08	38046683	160085398	83113975	21	50200											
DPP4	1803	broad.mit.edu	37	chr2	162902113	162902113	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatcattgatagaatgtcCaaactcatcctgtcaaacaa	17	11	4	9	0	3	2	3	1	0	1	5	2	5	2	2	0	2	0	2	0	6	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:162902113C>G	ENST00000360534.3	-	5	855	c.295G>C	c.(295-297)Gga>Cga	p.G99R		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	99					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATAGAATGTCCAAACTCATCC	0.343													12	46					0	0	0	0	G	162902113	C	G	162902113	3	3	280	1	0	0	0	0	1	0	0	0	4765	603	21	4	2093	4	DPP4	2	162902113	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	2816715	162902113	80297260	22	50201											
TTN	7273	broad.mit.edu	37	chr2	179424503	179424503	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggcttactccacaagaCattgggtactggtcttcctc	7	13	9	12	0	2	1	0	0	2	1	5	1	4	1	2	3	2	2	2	3	3	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:179424503C>G	ENST00000589042.1	-	326	86580	c.86356G>C	c.(86356-86358)Gtc>Ctc	p.V28786L	TTN_ENST00000342992.6_Missense_Mutation_p.V26218L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V19913L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19721L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V27145L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V19846L|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27145	Fibronectin type-III 110.						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)			CTCCACAAGACATTGGGTACT	0.438													38	93					0	0	0	0	G	179424503	C	G	179424503	3	3	280	1	0	0	0	0	1	0	0	0	16831	478	17	4	21771	4	TTN	2	179424503	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	16522390	179424503	63774870	23	50202											
DES	1674	broad.mit.edu	37	chr2	220286275	220286275	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagctgctggagggagagGagagccggtgaggggccagg	9	3	23	6	1	0	3	0	1	0	2	0	7	0	5	2	8	3	2	2	8	1	0			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:220286275G>T	ENST00000373960.3	+	6	1323	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	413	Tail.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAGGGAGAGGAGAGCCGGTG	0.622													14	44					7.93312e-07	1.42205e-06	1	0	T	220286275	G	T	220286275	4	4	280	1	0	0	0	0	0	1	0	0	4486	1175	41	2	1259	2	DES	2	220286275	Nonsense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	40861772	220286275	22913098	24	50203											
ABHD5	51099	broad.mit.edu	37	chr3	43753250	43753250	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggtttccctgaacgaccaGaccttgctgatcaagacaga	11	8	11	11	1	1	5	1	2	0	3	2	6	2	5	3	2	2	2	3	2	2	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:43753250G>C	ENST00000458276.2	+	4	679	c.556G>C	c.(556-558)Gac>Cac	p.D186H		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	186					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TGAACGACCAGACCTTGCTGA	0.453													11	54					0	0	0	0	C	43753250	G	C	43753250	3	2	280	1	0	0	0	0	1	0	0	0	85	942	33	2	570	2	ABHD5	3	43753250	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08		43753250	154269180	25	50204											
RHOA	387	broad.mit.edu	37	chr3	49412905	49412905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatatctgccacatagttctCaaacactgtgggcacataca	13	10	7	11	0	2	0	1	0	2	0	3	1	2	0	1	1	3	2	1	1	4	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:49412905C>G	ENST00000418115.1	-	2	502	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q|RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	40					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	p.E40Q(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ACATAGTTCTCAAACACTGTG	0.438													24	103					0	0	0	0	G	49412905	C	G	49412905	3	3	280	1	0	0	0	0	1	0	0	0	13414	835	29	2	479	2	RHOA	3	49412905	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	5659655	49412905	148609525	26	50205											
PLCXD2	257068	broad.mit.edu	37	chr3	111426919	111426919	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagaacctgacatttcgaGaacagctggaagctgggatc	12	8	11	10	1	1	3	1	1	0	2	3	6	1	5	1	2	4	2	1	2	3	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:111426919G>C	ENST00000393934.3	+	2	880	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	PLCXD2_ENST00000477665.1_Missense_Mutation_p.E104Q	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	104	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GACATTTCGAGAACAGCTGGA	0.522													11	83					0	0	0	0	C	111426919	G	C	111426919	3	2	280	1	0	0	0	0	1	0	0	0	12114	943	33	2	316	2	PLCXD2	3	111426919	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	62014014	111426919	86595511	27	50206											
KALRN	8997	broad.mit.edu	37	chr3	124165030	124165030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgagtgagctcctgcaGagggagaatcgcgtgctgca	9	8	14	10	2	0	4	0	2	0	2	3	5	2	4	2	1	4	4	2	1	1	0			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:124165030G>T	ENST00000360013.3	+	20	3457	c.3330G>T	c.(3328-3330)caG>caT	p.Q1110H	KALRN_ENST00000240874.3_Missense_Mutation_p.Q1110H|KALRN_ENST00000460856.1_Missense_Mutation_p.Q1101H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1110					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTCCTGCAGAGGGAGAATC	0.577													12	60					2.27111e-07	4.11486e-07	1	0	T	124165030	G	T	124165030	3	4	280	1	0	0	0	0	1	0	0	0	8028	933	33	2	3408	2	KALRN	3	124165030	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	12738111	124165030	73857400	28	50207											
ABTB1	80325	broad.mit.edu	37	chr3	127395886	127395886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccagctgtgggacctgctCagcgacctggaggccaagtg	7	7	15	12	1	1	0	1	0	0	0	1	3	1	2	4	3	4	2	4	3	1	0			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:127395886C>T	ENST00000468137.1	+	6	793	c.177C>T	c.(175-177)ctC>ctT	p.L59L	ABTB1_ENST00000453791.2_Silent_p.L59L|ABTB1_ENST00000232744.8_Silent_p.L201L|ABTB1_ENST00000393363.3_Silent_p.L59L			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	201						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GGGACCTGCTCAGCGACCTGG	0.667													12	43					0	0	0	0	T	127395886	C	T	127395886	2	4	280	1	0	0	0	0	0	0	0	1	102	813	29	2		2	ABTB1	3	127395886	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	3230856	127395886	70626544	29	50208											
ARMC8	25852	broad.mit.edu	37	chr3	138003316	138003316	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcggatgggacaacagcaaAagatcttattatgaccaatg	16	8	10	7	1	1	2	0	1	1	1	1	4	1	4	1	2	3	1	1	2	6	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:138003316A>G	ENST00000469044.1	+	19	2040	c.1769A>G	c.(1768-1770)aAa>aGa	p.K590R	ARMC8_ENST00000481646.1_Missense_Mutation_p.K576R|NME9_ENST00000536478.1_Intron|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000393058.3_Missense_Mutation_p.K580R|ARMC8_ENST00000461822.1_Missense_Mutation_p.K523R|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000485396.1_Missense_Mutation_p.K517R|NME9_ENST00000341790.5_Intron|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000538260.1_Missense_Mutation_p.K559R|ARMC8_ENST00000491704.1_Missense_Mutation_p.K548R	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	590							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ACAACAGCAAAAGATCTTATT	0.443													77	156					0	0	0	0	G	138003316	A	G	138003316	3	3	280	1	0	0	0	0	1	0	0	0	961	14	1	5	1867	5	ARMC8	3	138003316	Missense_Mutation	SNP	A	TCGA-CV-7102-01A-11D-2012-08	10607430	138003316	60019114	30	50209											
RBP2	5948	broad.mit.edu	37	chr3	139173605	139173605	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcaatccactgcttcCagccgcggttctccttctcc	4	11	5	21	2	3	0	1	0	2	0	7	0	5	0	7	1	2	2	7	1	1	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:139173605C>T	ENST00000232217.2	-	3	376	c.320G>A	c.(319-321)tGg>tAg	p.W107*	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	107					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CCACTGCTTCCAGCCGCGGTT	0.532													31	160					0	0	0	0	T	139173605	C	T	139173605	4	4	280	1	0	0	0	0	0	1	0	0	13238	595	21	4	92	4	RBP2	3	139173605	Nonsense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	1170289	139173605	58848825	31	50210											
GFM1	85476	broad.mit.edu	37	chr3	158363454	158363454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgatggtcttcatcagggGtgattcctaatgaaaaaata	13	11	10	7	1	3	2	2	2	1	0	4	3	4	2	2	3	0	0	2	3	5	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:158363454G>A	ENST00000486715.1	+	2	475	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	GFM1_ENST00000264263.5_Missense_Mutation_p.V40M|GFM1_ENST00000478576.1_Missense_Mutation_p.V40M	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	40					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTCATCAGGGGTGATTCCTAA	0.373													10	49					0	0	0	0	A	158363454	G	A	158363454	3	1	280	1	0	0	0	0	1	0	0	0	6392	1261	44	4	124	4	GFM1	3	158363454	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	19189849	158363454	39658976	32	50211											
HTR3E	285242	broad.mit.edu	37	chr3	183824397	183824397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggttgcagttcagccaCgcgatggacgccatgctctt	6	11	12	12	3	2	0	1	0	1	0	2	2	2	1	2	2	3	4	2	2	0	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:183824397C>T	ENST00000415389.2	+	9	1753	c.1287C>T	c.(1285-1287)caC>caT	p.H429H	HTR3E_ENST00000436361.2_Silent_p.H429H|HTR3E_ENST00000425359.2_Silent_p.H414H|HTR3E_ENST00000335304.2_Silent_p.H444H|HTR3E_ENST00000440596.2_Silent_p.H455H	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	429						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGTTCAGCCACGCGATGGACG	0.607													22	97					0	0	0	0	T	183824397	C	T	183824397	2	4	280	1	0	0	0	0	0	0	0	1	7501	535	19	1		1	HTR3E	3	183824397	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	25460943	183824397	14198033	33	50212											
KIAA0226	9711	broad.mit.edu	37	chr3	197427812	197427812	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatcacctggggaatcattCtggctgctgacccaggatgc	8	9	12	12	0	3	1	2	1	1	0	3	3	3	3	2	4	2	3	2	4	1	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:197427812C>G	ENST00000273582.5	-	7	1298	c.753G>C	c.(751-753)caG>caC	p.Q251H	KIAA0226_ENST00000389665.5_Missense_Mutation_p.Q311H|KIAA0226_ENST00000449205.1_Missense_Mutation_p.Q311H|KIAA0226_ENST00000296343.5_Missense_Mutation_p.Q311H	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	311	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)		GGGAATCATTCTGGCTGCTGA	0.577													9	61					0	0	0	0	G	197427812	C	G	197427812	3	3	280	1	0	0	0	0	1	0	0	0	8213	912	32	2	2090	2	KIAA0226	3	197427812	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	13603415	197427812	594618	34	50213											
ADD1	118	broad.mit.edu	37	chr4	2877732	2877732	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttcgaccgagtagatgaGaacaacccagagtacttgag	14	8	10	9	2	0	4	0	2	0	3	1	7	0	4	2	0	4	2	2	0	5	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:2877732G>C	ENST00000355842.3	+	3	953	c.90G>C	c.(88-90)gaG>gaC	p.E30D	ADD1_ENST00000398123.2_Missense_Mutation_p.E30D|ADD1_ENST00000446856.1_Missense_Mutation_p.E30D|ADD1_ENST00000264758.7_Missense_Mutation_p.E30D|ADD1_ENST00000398125.1_Missense_Mutation_p.E30D|ADD1_ENST00000513328.2_Missense_Mutation_p.E30D|ADD1_ENST00000503455.2_Missense_Mutation_p.E30D|ADD1_ENST00000398129.1_Missense_Mutation_p.E30D			P35611	ADDA_HUMAN	adducin 1 (alpha)	30					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGTAGATGAGAACAACCCAG	0.517													27	98					0	0	0	0	C	2877732	G	C	2877732	3	2	280	1	0	0	0	0	1	0	0	0	304	933	33	2	92	2	ADD1	4	2877732	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08		2877732	188276544	35	50214											
ABLIM2	84448	broad.mit.edu	37	chr4	8021358	8021358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgtaccatgctgtctgtaGatagggggtttcctatagat	9	13	11	8	1	1	2	0	0	1	2	2	2	2	2	3	2	2	4	3	2	5	6			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:8021358G>C	ENST00000318888.4	-	13	1384	c.513C>G	c.(511-513)atC>atG	p.I171M	ABLIM2_ENST00000361581.5_Missense_Mutation_p.I437M|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.I437M|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000296372.8_Missense_Mutation_p.I437M|ABLIM2_ENST00000514025.1_Missense_Mutation_p.I171M|ABLIM2_ENST00000447017.2_Missense_Mutation_p.I470M|ABLIM2_ENST00000545242.1_Missense_Mutation_p.I437M|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000505872.1_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	437	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GCTGTCTGTAGATAGGGGGTT	0.473													13	55					0	0	0	0	C	8021358	G	C	8021358	3	2	280	1	0	0	0	0	1	0	0	0	95	932	33	2	576	2	ABLIM2	4	8021358	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	5143626	8021358	183132918	36	50215											
SLIT2	9353	broad.mit.edu	37	chr4	20541203	20541203	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atactctccattctttatctActctgtaagtatgaaaaata	14	16	3	8	0	4	1	0	1	4	0	5	1	4	1	1	0	2	2	1	0	8	8			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:20541203A>G	ENST00000504154.1	+	19	2224	c.1972A>G	c.(1972-1974)Act>Gct	p.T658A	SLIT2_ENST00000503823.1_Missense_Mutation_p.T650A|SLIT2_ENST00000273739.5_Missense_Mutation_p.T662A|SLIT2_ENST00000503837.1_Missense_Mutation_p.T654A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	658					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTCTTTATCTACTCTGTAAGT	0.299													9	33					0	0	0	0	G	20541203	A	G	20541203	3	3	280	1	0	0	0	0	1	0	0	0	14828	391	14	5	2046	5	SLIT2	4	20541203	Missense_Mutation	SNP	A	TCGA-CV-7102-01A-11D-2012-08	12519845	20541203	170613073	37	50216											
KCTD8	386617	broad.mit.edu	37	chr4	44177085	44177085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttaaagtgttaggttggtGagctgttgcctgctgggcac	6	14	15	6	0	0	1	0	1	0	0	0	1	0	1	1	3	3	7	1	3	3	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:44177085G>A	ENST00000360029.3	-	2	1427	c.1144C>T	c.(1144-1146)Cac>Tac	p.H382Y		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	382						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTAGGTTGGTGAGCTGTTGCC	0.507										HNSCC(17;0.042)			22	140					0	0	0	0	A	44177085	G	A	44177085	3	1	280	1	0	0	0	0	1	0	0	0	8168	1290	45	2	281	2	KCTD8	4	44177085	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	23635882	44177085	146977191	38	50217											
UGT2A1	10941	broad.mit.edu	37	chr4	70513058	70513058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatagaatctccaaatggttGaaggagatggtctattttcc	12	13	10	6	0	2	3	0	1	2	2	4	5	3	3	2	3	0	1	2	3	5	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:70513058G>A	ENST00000503640.1	-	1	360	c.305C>T	c.(304-306)tCa>tTa	p.S102L	UGT2A1_ENST00000286604.4_Missense_Mutation_p.S102L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.S102L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S102L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	102					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCAAATGGTTGAAGGAGATGG	0.413													11	60					0	0	0	0	A	70513058	G	A	70513058	3	1	280	1	0	0	0	0	1	0	0	0	17049	1294	45	2	1302	2	UGT2A1	4	70513058	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	26335973	70513058	120641218	39	50218											
MMRN1	22915	broad.mit.edu	37	chr4	90857719	90857719	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaacttcttcagaaaggtcTaacagaatttgtggaaccaa	15	11	7	8	0	4	2	2	0	2	2	4	3	4	3	1	2	3	0	1	2	6	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:90857719T>C	ENST00000394980.1	+	7	3207	c.2888T>C	c.(2887-2889)cTa>cCa	p.L963P	MMRN1_ENST00000508372.1_Missense_Mutation_p.L705P|MMRN1_ENST00000264790.2_Missense_Mutation_p.L963P|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	963					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGAAAGGTCTAACAGAATTT	0.378													18	37					0	0	0	0	C	90857719	T	C	90857719	3	2	280	1	0	0	0	0	1	0	0	0	9740	1522	53	5	2910	5	MMRN1	4	90857719	Missense_Mutation	SNP	T	TCGA-CV-7102-01A-11D-2012-08	20344661	90857719	100296557	40	50219											
ALPK1	80216	broad.mit.edu	37	chr4	113353568	113353568	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcctatctgaattccagtggGagttcttgggtttcattgcc	6	16	10	9	0	3	1	1	1	2	0	5	2	5	2	3	2	1	2	3	2	2	6			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:113353568G>C	ENST00000458497.1	+	11	3144	c.2865G>C	c.(2863-2865)ggG>ggC	p.G955G	ALPK1_ENST00000504176.2_Silent_p.G877G|ALPK1_ENST00000177648.9_Silent_p.G955G	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	955	Ser-rich.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ATTCCAGTGGGAGTTCTTGGG	0.512													13	68					0	0	0	0	C	113353568	G	C	113353568	2	2	280	1	0	0	0	0	0	0	0	1	544	1161	41	2		2	ALPK1	4	113353568	Silent	SNP	G	TCGA-CV-7102-01A-11D-2012-08	22495849	113353568	77800708	41	50220											
QRFPR	84109	broad.mit.edu	37	chr4	122257976	122257976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctacctcaagttgttgcaCgtgccacatgggtgatccta	8	12	10	11	1	2	1	1	1	1	0	3	1	3	1	3	1	3	3	3	1	3	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:122257976C>T	ENST00000394427.2	-	3	958	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	QRFPR_ENST00000334383.5_Missense_Mutation_p.V183M	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	183						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AGTTGTTGCACGTGCCACATG	0.423													97	223					0	0	0	0	T	122257976	C	T	122257976	3	4	280	1	0	0	0	0	1	0	0	0	12960	536	19	1	764	1	QRFPR	4	122257976	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	8904408	122257976	68896300	42	50221											
HSPA4L	22824	broad.mit.edu	37	chr4	128753927	128753927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagctaatagtgaacaCaatggcccaatggatggaca	17	6	9	9	0	0	1	0	1	0	0	0	3	0	3	2	3	2	1	2	3	7	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:128753927C>G	ENST00000296464.3	+	19	2829	c.2418C>G	c.(2416-2418)caC>caG	p.H806Q	HSPA4L_ENST00000439123.2_Missense_Mutation_p.H837Q|HSPA4L_ENST00000508776.1_Missense_Mutation_p.H806Q|HSPA4L_ENST00000505726.1_Missense_Mutation_p.H780Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	806				H -> R (in Ref. 1; BAA75063).	protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ATAGTGAACACAATGGCCCAA	0.408													12	61					0	0	0	0	G	128753927	C	G	128753927	3	3	280	1	0	0	0	0	1	0	0	0	7465	477	17	4	2492	4	HSPA4L	4	128753927	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	6495951	128753927	62400349	43	50222											
LRBA	987	broad.mit.edu	37	chr4	151388836	151388836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaattaccttggacaaatCtctgaagttggtgggcaagg	13	10	12	6	0	1	2	0	1	1	1	2	3	1	3	1	4	1	2	1	4	5	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:151388836C>T	ENST00000535741.1	-	44	7242	c.6769G>A	c.(6769-6771)Gat>Aat	p.D2257N	LRBA_ENST00000357115.3_Missense_Mutation_p.D2268N|LRBA_ENST00000510413.1_Missense_Mutation_p.D2257N|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.D2257N			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2268	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTGGACAAATCTCTGAAGTTG	0.313													8	54					0	0	0	0	T	151388836	C	T	151388836	3	4	280	1	0	0	0	0	1	0	0	0	8995	913	32	2	1845	2	LRBA	4	151388836	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	22634909	151388836	39765440	44	50223											
PALLD	23022	broad.mit.edu	37	chr4	169611844	169611844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgcaggtccagtggtttCggcaagggagtgaaatccaa	10	9	13	9	1	1	1	0	1	1	0	4	2	3	2	2	4	1	3	2	4	3	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:169611844C>T	ENST00000335742.7	+	7	1637	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	PALLD_ENST00000333488.4_Missense_Mutation_p.R353W|PALLD_ENST00000261509.6_Missense_Mutation_p.R476W|PALLD_ENST00000505667.1_Missense_Mutation_p.R476W|PALLD_ENST00000512127.1_Missense_Mutation_p.R94W			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	476					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCAGTGGTTTCGGCAAGGGAG	0.527									Pancreatic Cancer, Familial Clustering of				28	131					0	0	0	0	T	169611844	C	T	169611844	3	4	280	1	0	0	0	0	1	0	0	0	11478	875	31	1	1448	1	PALLD	4	169611844	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	18223008	169611844	21542432	45	50224											
ADAM29	11086	broad.mit.edu	37	chr4	175897744	175897744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacaacctagatgcataatGcatgaaggcaacccaccaat	16	7	6	12	0	1	2	1	1	0	1	1	2	1	2	3	1	4	3	3	1	6	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:175897744G>A	ENST00000359240.3	+	5	1738	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	ADAM29_ENST00000404450.4_Missense_Mutation_p.M356I|ADAM29_ENST00000514159.1_Missense_Mutation_p.M356I|ADAM29_ENST00000445694.1_Missense_Mutation_p.M356I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	356	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GATGCATAATGCATGAAGGCA	0.388													19	107					0	0	0	0	A	175897744	G	A	175897744	3	1	280	1	0	0	0	0	1	0	0	0	247	1319	46	4	1070	4	ADAM29	4	175897744	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	6285900	175897744	15256532	46	50225											
CCDC110	256309	broad.mit.edu	37	chr4	186382220	186382220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaaatccttttcaatgcGcgtgccaaacaccagatttt	12	12	5	12	2	1	1	1	0	0	1	2	1	2	1	4	0	4	0	4	0	4	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:186382220G>A	ENST00000307588.3	-	5	406	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	CCDC110_ENST00000393540.3_Intron|CCDC110_ENST00000510617.1_Missense_Mutation_p.R111C|CCDC110_ENST00000507501.1_5'UTR	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	111						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTCAATGCGCGTGCCAAAC	0.338													20	95					0	0	0	0	A	186382220	G	A	186382220	3	1	280	1	0	0	0	0	1	0	0	0	2772	1087	38	1	2182	1	CCDC110	4	186382220	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	10484476	186382220	4772056	47	50226											
SORBS2	8470	broad.mit.edu	37	chr4	186545017	186545017	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttggcatggatttggacttCtggatcagcttttcgaattc	7	17	10	7	1	2	0	1	0	1	0	4	4	2	3	0	4	1	2	0	4	1	6			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:186545017C>G	ENST00000431808.1	-	14	2117	c.1554G>C	c.(1552-1554)caG>caC	p.Q518H	SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.Q618H|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.Q422H|SORBS2_ENST00000284776.7_Missense_Mutation_p.Q518H|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	518						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATTTGGACTTCTGGATCAGCT	0.562													16	79					0	0	0	0	G	186545017	C	G	186545017	3	3	280	1	0	0	0	0	1	0	0	0	15016	912	32	2	1784	2	SORBS2	4	186545017	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	162797	186545017	4609259	48	50227											
ANKHD1	54882	broad.mit.edu	37	chr5	139838838	139838838	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctgaagttgcagactttCttattaaggcaggggctgat	9	15	11	6	0	2	3	0	2	2	1	2	3	2	3	0	3	1	4	0	3	3	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:139838838C>G	ENST00000297183.6	+	9	1694	c.1570C>G	c.(1570-1572)Ctt>Gtt	p.L524V	ANKHD1_ENST00000394722.3_Missense_Mutation_p.L513V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L524V|ANKHD1_ENST00000394723.3_Missense_Mutation_p.L524V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.L524V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGACTTTCTTATTAAGGC	0.443													15	60					0	0	0	0	G	139838838	C	G	139838838	3	3	280	1	0	0	0	0	1	0	0	0	628	913	32	2	1604	2	ANKHD1	5	139838838	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08		139838838	41076422	49	50228											
PCDHB11	56125	broad.mit.edu	37	chr5	140580954	140580954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtgggcgccacagaccGcggctccccggctttgagca	5	5	14	17	6	0	2	0	1	0	1	1	2	1	2	5	3	1	3	5	3	0	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:140580954G>A	ENST00000354757.3	+	1	1607	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.R171H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGACCGCGGCTCCCCG	0.667													48	88					0	0	0	0	A	140580954	G	A	140580954	3	1	280	1	0	0	0	0	1	0	0	0	11607	1087	38	1	1609	1	PCDHB11	5	140580954	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	742116	140580954	40334306	50	50229											
PCDHB12	56124	broad.mit.edu	37	chr5	140589638	140589638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatggtttgttctatcccgGaggacatcccattcgtgcta	8	13	10	10	2	1	1	0	0	1	1	4	3	3	3	2	3	1	3	2	3	2	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:140589638G>A	ENST00000239450.2	+	1	1348	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	PCDHB12_ENST00000541609.1_Missense_Mutation_p.E50K	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		387	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTATCCCGGAGGACATCCC	0.468													12	45					0	0	0	0	A	140589638	G	A	140589638	3	1	280	1	0	0	0	0	1	0	0	0	11608	1175	41	2	1161	2	PCDHB12	5	140589638	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	8684	140589638	40325622	51	50230											
PCDHB12	56124	broad.mit.edu	37	chr5	140589962	140589962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcgctgctgccgtcccagGacccgcacctgcccctcgcc	4	6	9	22	4	0	0	0	0	0	0	3	1	1	1	7	1	3	3	7	1	0	0			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:140589962G>A	ENST00000239450.2	+	1	1672	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D158N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		495	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGTCCCAGGACCCGCACCT	0.662													22	159					0	0	0	0	A	140589962	G	A	140589962	3	1	280	1	0	0	0	0	1	0	0	0	11608	1174	41	2	1485	2	PCDHB12	5	140589962	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	324	140589962	40325298	52	50231											
EBF1	1879	broad.mit.edu	37	chr5	158524010	158524010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccacgaaccccacaaacGctgtcctctcgatctccacg	9	8	5	19	4	3	0	0	0	3	0	7	2	4	0	5	0	2	1	5	0	2	0			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:158524010G>T	ENST00000313708.6	-	2	545	c.263C>A	c.(262-264)gCg>gAg	p.A88E	EBF1_ENST00000517373.1_Missense_Mutation_p.A88E|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.A88E	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	88					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCACAAACGCTGTCCTCTC	0.637			T	HMGA2	lipoma								12	23					1.61879e-10	2.99743e-10	1	0	T	158524010	G	T	158524010	3	4	280	1	0	0	0	0	1	0	0	0	4916	1087	38	3	1572	3	EBF1	5	158524010	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	17934048	158524010	22391250	53	50232											
GABRB2	2561	broad.mit.edu	37	chr5	160973365	160973365	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacgaatgtcatagcctttCaggagtctatccaccgtctc	10	11	8	12	2	4	1	2	0	2	1	6	3	5	2	3	1	1	0	3	1	3	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:160973365C>G	ENST00000274547.2	-	3	349	c.132G>C	c.(130-132)ctG>ctC	p.L44L	GABRB2_ENST00000393959.1_Silent_p.L44L|GABRB2_ENST00000520240.1_Silent_p.L44L|GABRB2_ENST00000353437.6_Silent_p.L44L|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000517547.1_Intron	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	44					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CATAGCCTTTCAGGAGTCTAT	0.453													6	35					0	0	0	0	G	160973365	C	G	160973365	2	3	280	1	0	0	0	0	0	0	0	1	6215	813	29	2		2	GABRB2	5	160973365	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	2449355	160973365	19941895	54	50233											
GABRG2	2566	broad.mit.edu	37	chr5	161531032	161531032	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtagtgaagacaacttccGgtaagatgcactggcaaaga	16	7	11	7	1	0	4	0	1	0	3	1	4	1	4	1	2	2	4	1	2	6	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:161531032G>T	ENST00000356592.3	+	6	1229	c.769_splice	c.e6+1	p.G257_splice	GABRG2_ENST00000393933.4_Splice_Site_p.G162_splice|GABRG2_ENST00000361925.4_Splice_Site_p.G257_splice|GABRG2_ENST00000414552.2_Splice_Site_p.G297_splice	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	257					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GACAACTTCCGGTAAGATGCA	0.383													16	34					2.5808e-16	5.05656e-16	1	0	T	161531032	G	T	161531032	5	4	280	1	0	0	0	0	0	0	1	0	6220	1130	39	3	915	3	GABRG2	5	161531032	Splice_Site	SNP	G	TCGA-CV-7102-01A-11D-2012-08	557667	161531032	19384228	55	50234											
DDX41	51428	broad.mit.edu	37	chr5	176943153	176943153	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacactctccaggatcttctCttcttccttcagctgcttct	6	16	4	15	0	6	0	1	0	5	0	9	1	7	1	2	1	3	2	2	1	1	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:176943153C>A	ENST00000507955.1	-	4	863	c.340G>T	c.(340-342)Gag>Tag	p.E114*	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	114					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			AGGATCTTCTCTTCTTCCTTC	0.522													39	205					6.45866e-13	1.21596e-12	1	0	A	176943153	C	A	176943153	4	1	280	1	0	0	0	0	0	1	0	0	4393	922	32	2	1584	2	DDX41	5	176943153	Nonsense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	15412121	176943153	3972107	56	50235											
ZFP2	80108	broad.mit.edu	37	chr5	178358852	178358852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgtccatcaacgaactCacaccggagagaaaccctat	14	8	6	13	2	2	1	2	0	0	1	3	4	3	2	3	1	4	0	3	1	5	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:178358852C>A	ENST00000361362.2	+	5	1068	c.538C>A	c.(538-540)Cac>Aac	p.H180N	ZFP2_ENST00000520301.1_Missense_Mutation_p.H180N|ZFP2_ENST00000503510.2_Missense_Mutation_p.H180N|ZFP2_ENST00000523286.1_Missense_Mutation_p.H180N	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TCAACGAACTCACACCGGAGA	0.398													8	37					1.12685e-05	1.99868e-05	1	0	A	178358852	C	A	178358852	3	1	280	1	0	0	0	0	1	0	0	0	17736	826	29	2	540	2	ZFP2	5	178358852	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	1415699	178358852	2556408	57	50236											
EHMT2	10919	broad.mit.edu	37	chr6	31860266	31860266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaccaccgtctcccacTcctccagggacccggggtcc	6	5	8	22	2	1	0	0	0	1	0	5	1	4	1	8	3	0	0	8	3	0	0			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:31860266T>C	ENST00000395728.3	-	6	952	c.953A>G	c.(952-954)gAg>gGg	p.E318G	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.E261G|EHMT2_ENST00000375537.4_Missense_Mutation_p.E261G|EHMT2_ENST00000375528.4_Missense_Mutation_p.E318G			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	261	Poly-Glu.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CGTCTCCCACTCCTCCAGGGA	0.547													15	61					0	0	0	0	C	31860266	T	C	31860266	3	2	280	1	0	0	0	0	1	0	0	0	5020	1551	54	5	2938	5	EHMT2	6	31860266	Missense_Mutation	SNP	T	TCGA-CV-7102-01A-11D-2012-08		31860266	139254801	58	50237											
PSMB8	5696	broad.mit.edu	37	chr6	32808747	32808747	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccattattgattggCttcccggtactggtgcagca	8	11	9	13	1	0	1	0	1	0	0	1	1	1	1	4	3	3	4	4	3	2	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:32808747C>A	ENST00000374881.2	-	6	1097	c.808G>T	c.(808-810)Gcc>Tcc	p.A270S	PSMB8_ENST00000395339.3_Missense_Mutation_p.A250S|PSMB8_ENST00000374882.3_Missense_Mutation_p.A274S	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	274					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						TATTGATTGGCTTCCCGGTAC	0.512													16	46					2.23348e-06	3.98246e-06	1	0	A	32808747	C	A	32808747	3	1	280	1	0	0	0	0	1	0	0	0	12762	797	28	4	14	4	PSMB8	6	32808747	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	948481	32808747	138306320	59	50238											
PHF3	23469	broad.mit.edu	37	chr6	64423243	64423243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataggggtaaaggggaccGccagagattttatagtgatt	13	11	13	4	1	0	2	0	1	0	1	0	4	0	3	2	4	0	1	2	4	6	7			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:64423243G>A	ENST00000262043.3	+	16	6099	c.5759G>A	c.(5758-5760)cGc>cAc	p.R1920H	PHF3_ENST00000393387.1_Missense_Mutation_p.R1920H			Q92576	PHF3_HUMAN	PHD finger protein 3	1920					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAGGGGACCGCCAGAGATTT	0.473													47	81					0	0	0	0	A	64423243	G	A	64423243	3	1	280	1	0	0	0	0	1	0	0	0	11908	1087	38	1	5817	1	PHF3	6	64423243	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	31614496	64423243	106691824	60	50239											
MANEA	79694	broad.mit.edu	37	chr6	96052716	96052716	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttaggttacttttcacaTagaaccatatagcaatcgag	13	14	7	7	1	1	1	1	0	0	1	2	2	1	1	1	1	3	3	1	1	7	8			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:96052716T>G	ENST00000358812.4	+	4	802	c.668T>G	c.(667-669)aTa>aGa	p.I223R	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	223	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ACTTTTCACATAGAACCATAT	0.224													3	15					0	0	0	0	G	96052716	T	G	96052716	3	3	280	1	0	0	0	0	1	0	0	0	9290	1406	49	5	678	5	MANEA	6	96052716	Missense_Mutation	SNP	T	TCGA-CV-7102-01A-11D-2012-08	31629473	96052716	75062351	61	50240											
FIG4	9896	broad.mit.edu	37	chr6	110112620	110112620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgtattacagcggaaaaCggcagccagcgccccgccgc	10	4	12	15	5	0	0	0	0	0	0	0	1	0	1	4	2	6	3	4	2	4	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:110112620C>T	ENST00000230124.3	+	20	2346	c.2222C>T	c.(2221-2223)aCg>aTg	p.T741M	FIG4_ENST00000441478.2_Missense_Mutation_p.T464M	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	741					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CAGCGGAAAACGGCAGCCAGC	0.507													14	127					0	0	0	0	T	110112620	C	T	110112620	3	4	280	1	0	0	0	0	1	0	0	0	5933	536	19	1	2300	1	FIG4	6	110112620	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	14059904	110112620	61002447	62	50241											
LAMA2	3908	broad.mit.edu	37	chr6	129470160	129470160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgagcataacacatgtggcGatagctgtgatcagtgctgt	10	11	13	7	1	1	2	1	2	0	0	1	3	1	2	0	1	4	3	0	1	2	2	rs141340479	byFrequency	TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:129470160G>A	ENST00000421865.2	+	7	995	c.946G>A	c.(946-948)Gat>Aat	p.D316N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	316	Laminin EGF-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.D316Y(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACATGTGGCGATAGCTGTGA	0.428													16	91					0	0	0	0	A	129470160	G	A	129470160	3	1	280	1	0	0	0	0	1	0	0	0	8659	1058	37	1	972	1	LAMA2	6	129470160	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	19357540	129470160	41644907	63	50242											
HOXA1	3198	broad.mit.edu	37	chr7	27134145	27134145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacttctctgaggattcctCggccttctcgtcgtttcctg	3	15	10	13	3	2	1	0	1	2	0	8	3	4	3	3	3	0	1	3	3	0	4	rs41311760		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:27134145C>T	ENST00000343060.4	-	2	983	c.922G>A	c.(922-924)Gag>Aag	p.E308K	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	308						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAGGATTCCTCGGCCTTCTCG	0.597													11	47					0	0	0	0	T	27134145	C	T	27134145	3	4	280	1	0	0	0	0	1	0	0	0	7338	893	31	1	89	1	HOXA1	7	27134145	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08		27134145	132004518	64	50243											
BLVRA	644	broad.mit.edu	37	chr7	43843400	43843400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttggaagagcgaaaggaaGatcagtatatgaaaatgaca	18	8	11	4	1	1	4	1	2	0	2	1	7	1	6	0	2	1	1	0	2	7	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:43843400G>C	ENST00000402924.1	+	8	749	c.586G>C	c.(586-588)Gat>Cat	p.D196H	BLVRA_ENST00000265523.4_Missense_Mutation_p.D196H	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	196					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GCGAAAGGAAGATCAGTATAT	0.478													28	145					0	0	0	0	C	43843400	G	C	43843400	3	2	280	1	0	0	0	0	1	0	0	0	1456	942	33	2	608	2	BLVRA	7	43843400	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	16709255	43843400	115295263	65	50244											
EGFR	1956	broad.mit.edu	37	chr7	55233026	55233026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgacggcccccactgcgtCaagacctgcccggcaggagt	8	6	12	15	3	1	2	1	1	0	1	1	3	1	3	4	3	2	1	4	3	1	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:55233026C>T	ENST00000275493.2	+	15	1953	c.1776C>T	c.(1774-1776)gtC>gtT	p.V592V	EGFR_ENST00000454757.2_Silent_p.V539V|EGFR_ENST00000342916.3_Silent_p.V592V|EGFR_ENST00000455089.1_Silent_p.V547V|EGFR_ENST00000344576.2_Silent_p.V592V|EGFR_ENST00000442591.1_Silent_p.V592V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	592					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCCACTGCGTCAAGACCTGCC	0.547		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			23	607					0	0	0	0	T	55233026	C	T	55233026	2	4	280	1	0	0	0	0	0	0	0	1	5003	813	29	2		2	EGFR	7	55233026	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	11389626	55233026	103905637	66	50245											
SBDS	51119	broad.mit.edu	37	chr7	66456261	66456261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgttctatcttcattttctCttttaactgctttatcactt	7	22	2	10	1	5	0	2	0	3	0	6	0	5	0	0	0	2	2	0	0	3	10			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:66456261C>G	ENST00000246868.2	-	4	670	c.487G>C	c.(487-489)Gag>Cag	p.E163Q		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	163					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TTCATTTTCTCTTTTAACTGC	0.368			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome				8	26					0	0	0	0	G	66456261	C	G	66456261	3	3	280	1	0	0	0	0	1	0	0	0	13943	922	32	2	273	2	SBDS	7	66456261	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	11223235	66456261	92682402	67	50246											
NSUN5	55695	broad.mit.edu	37	chr7	72717906	72717906	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggagcacgtggagtagacGagccgctgcagggaagggaa	12	3	19	7	3	0	1	0	0	0	1	0	6	0	5	1	4	3	4	1	4	3	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:72717906G>A	ENST00000428206.1	-	8	961	c.948C>T	c.(946-948)ctC>ctT	p.L316L	NSUN5_ENST00000438747.2_Silent_p.L354L|NSUN5_ENST00000252594.6_Silent_p.L354L|NSUN5_ENST00000310326.8_Silent_p.L354L	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	354							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TGGAGTAGACGAGCCGCTGCA	0.677													7	19					0	0	0	0	A	72717906	G	A	72717906	2	1	280	1	0	0	0	0	0	0	0	1	10752	1045	37	1		1	NSUN5	7	72717906	Silent	SNP	G	TCGA-CV-7102-01A-11D-2012-08	6261645	72717906	86420757	68	50247											
HIP1	3092	broad.mit.edu	37	chr7	75172176	75172176	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggaaaggctacctgtctCttcgatctgtgatttgccgg	6	15	11	9	2	2	1	0	1	2	0	4	3	2	2	2	3	2	1	2	3	2	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:75172176C>A	ENST00000336926.6	-	28	2910	c.2884G>T	c.(2884-2886)Gag>Tag	p.E962*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.E911*	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	962	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTACCTGTCTCTTCGATCTGT	0.572			T	PDGFRB	CMML								13	49					7.03913e-09	1.28923e-08	1	0	A	75172176	C	A	75172176	4	1	280	1	0	0	0	0	0	1	0	0	7164	922	32	2	245	2	HIP1	7	75172176	Nonsense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	2454270	75172176	83966487	69	50248											
SLC26A3	1811	broad.mit.edu	37	chr7	107408304	107408304	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaaaatattgagcttttCacttcaccatcaaaaaattc	18	12	3	8	0	3	2	3	1	0	1	4	2	3	2	1	0	1	1	1	0	7	6			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:107408304C>T	ENST00000340010.5	-	19	2296	c.2112G>A	c.(2110-2112)gtG>gtA	p.V704V	SLC26A3_ENST00000422236.2_Silent_p.V591V	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	704	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTGAGCTTTTCACTTCACCAT	0.328													11	29					0	0	0	0	T	107408304	C	T	107408304	2	4	280	1	0	0	0	0	0	0	0	1	14606	813	29	2		2	SLC26A3	7	107408304	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	32236128	107408304	51730359	70	50249											
SLC4A2	6522	broad.mit.edu	37	chr7	150772740	150772740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggcagatccccctggccGtgctctttggaattttcctg	4	13	10	14	2	1	1	0	0	1	1	4	2	4	2	5	3	1	2	5	3	1	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:150772740G>T	ENST00000485713.1	+	21	4389	c.3349G>T	c.(3349-3351)Gtg>Ttg	p.V1117L	SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1103L|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1117L|SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1108L|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1035L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1117	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			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)		CCCCCTGGCCGTGCTCTTTGG	0.607													9	56					5.68852e-11	1.05913e-10	1	0	T	150772740	G	T	150772740	3	4	280	1	0	0	0	0	1	0	0	0	14742	1145	40	3	3427	3	SLC4A2	7	150772740	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	43364436	150772740	8365923	71	50250											
MSR1	4481	broad.mit.edu	37	chr8	16026358	16026358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactaactgagcaattcttcGtttcccacttcaggagttga	11	13	7	10	1	2	2	1	2	1	0	4	3	3	3	1	1	3	3	1	1	3	6			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr8:16026358G>A	ENST00000350896.3	-	4	436	c.239C>T	c.(238-240)aCg>aTg	p.T80M	MSR1_ENST00000445506.2_Missense_Mutation_p.T98M|MSR1_ENST00000262101.5_Missense_Mutation_p.T80M|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.T80M|MSR1_ENST00000355282.2_Missense_Mutation_p.T80M	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	80	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GCAATTCTTCGTTTCCCACTT	0.383													30	40					0	0	0	0	A	16026358	G	A	16026358	3	1	280	1	0	0	0	0	1	0	0	0	9956	1145	40	1	1192	1	MSR1	8	16026358	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08		16026358	130337664	72	50251											
ABRA	137735	broad.mit.edu	37	chr8	107782160	107782160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtccatctccatgtccttCtggcaggcggggtggcgact	4	12	13	12	2	2	0	0	0	2	0	5	1	4	0	3	5	0	1	3	5	0	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr8:107782160C>T	ENST00000311955.3	-	1	313	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	87					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCATGTCCTTCTGGCAGGCGG	0.532													18	124					0	0	0	0	T	107782160	C	T	107782160	3	4	280	1	0	0	0	0	1	0	0	0	100	922	32	2	894	2	ABRA	8	107782160	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	91755802	107782160	38581862	73	50252											
KCNV1	27012	broad.mit.edu	37	chr8	110986443	110986443	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgcgtgtgcgggaagcAggacagcgcctgctgcgaga	9	4	18	10	5	0	1	0	0	0	1	0	4	0	3	1	3	5	2	1	3	2	0			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr8:110986443A>T	ENST00000524391.1	-	2	1207	c.175T>A	c.(175-177)Tgc>Agc	p.C59S	KCNV1_ENST00000297404.1_Missense_Mutation_p.C59S|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	59						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGCGGGAAGCAGGACAGCGCC	0.711													3	5					0	0	0	0	T	110986443	A	T	110986443	3	4	280	1	0	0	0	0	1	0	0	0	8147	188	7	5	1339	5	KCNV1	8	110986443	Missense_Mutation	SNP	A	TCGA-CV-7102-01A-11D-2012-08	3204283	110986443	35377579	74	50253											
UNC13B	10497	broad.mit.edu	37	chr9	35380621	35380621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaagtggcgagatggacGtctggtacaacttgggtgag	9	9	15	8	2	1	2	0	1	1	1	1	4	1	3	1	4	2	1	1	4	3	3	rs138199360		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr9:35380621G>A	ENST00000378495.3	+	17	2335	c.2113G>A	c.(2113-2115)Gtc>Atc	p.V705I	UNC13B_ENST00000396787.1_Missense_Mutation_p.V717I|UNC13B_ENST00000378496.4_Missense_Mutation_p.V705I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	705					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.V705I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CGAGATGGACGTCTGGTACAA	0.493													22	62					0	0	0	0	A	35380621	G	A	35380621	3	1	280	1	0	0	0	0	1	0	0	0	17081	1145	40	1	2179	1	UNC13B	9	35380621	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08		35380621	105832810	75	50254											
C9orf3	84909	broad.mit.edu	37	chr9	97522394	97522394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaggtgaaaaagatacttCtgataaagatggtaaccatg	18	10	9	4	0	1	4	0	2	1	2	1	4	1	4	1	2	2	1	1	2	8	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr9:97522394C>T	ENST00000375315.2	+	1	329	c.329C>T	c.(328-330)tCt>tTt	p.S110F	C9orf3_ENST00000297979.5_Missense_Mutation_p.S110F|C9orf3_ENST00000277198.2_Missense_Mutation_p.S110F	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	110					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AAAGATACTTCTGATAAAGAT	0.408													29	97					0	0	0	0	T	97522394	C	T	97522394	3	4	280	1	0	0	0	0	1	0	0	0	2502	913	32	2	331	2	C9orf3	9	97522394	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	62141773	97522394	43691037	76	50255											
SLC31A1	1317	broad.mit.edu	37	chr9	116022567	116022567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaggcaacagatgctgagCtttcctcacctcctgcaaac	10	9	7	15	0	1	2	1	1	0	1	4	2	4	2	4	1	5	4	4	1	2	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr9:116022567C>T	ENST00000374212.4	+	5	539	c.387C>T	c.(385-387)agC>agT	p.S129S	CDC26_ENST00000490408.1_Intron|SLC31A1_ENST00000374210.6_Silent_p.S129S	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	129						integral to plasma membrane	copper ion transmembrane transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						AGATGCTGAGCTTTCCTCACC	0.498													20	84					0	0	0	0	T	116022567	C	T	116022567	2	4	280	1	0	0	0	0	0	0	0	1	14651	796	28	4		4	SLC31A1	9	116022567	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	18500173	116022567	25190864	77	50256											
CUBN	8029	broad.mit.edu	37	chr10	16911693	16911693	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgaaatgaatctgtcttGaacaccaggagcatactatt	13	12	8	8	0	3	3	0	3	3	0	3	4	3	4	1	1	3	1	1	1	5	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr10:16911693G>A	ENST00000377833.4	-	59	9461	c.9396C>T	c.(9394-9396)ttC>ttT	p.F3132F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3132	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATCTGTCTTGAACACCAGGA	0.453													37	147					0	0	0	0	A	16911693	G	A	16911693	2	1	280	1	0	0	0	0	0	0	0	1	4083	1281	45	2		2	CUBN	10	16911693	Silent	SNP	G	TCGA-CV-7102-01A-11D-2012-08		16911693	118623054	78	50257											
RASGRP2	10235	broad.mit.edu	37	chr11	64508539	64508539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaactccgctgggaaggcGgagatccagtacctggagga	11	6	14	10	2	1	1	1	0	0	1	3	5	3	4	3	5	2	2	3	5	3	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr11:64508539G>A	ENST00000394429.1	-	3	251	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	RASGRP2_ENST00000394430.1_Silent_p.S84S|RASGRP2_ENST00000377486.3_Silent_p.S84S|RASGRP2_ENST00000377497.3_Silent_p.S84S|RASGRP2_ENST00000377489.1_Silent_p.S84S|RASGRP2_ENST00000377494.1_Silent_p.S84S|RASGRP2_ENST00000394428.1_Missense_Mutation_p.R58C|RASGRP2_ENST00000354024.3_Silent_p.S84S|RASGRP2_ENST00000394432.3_Silent_p.S84S|RASGRP2_ENST00000377487.1_Silent_p.S84S			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	0	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGAAGGCGGAGATCCAGT	0.572											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	24					0	0	0	0	A	64508539	G	A	64508539	3	1	280	1	0	0	0	0	1	0	0	0	13157	1103	39	1	1625	1	RASGRP2	11	64508539	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08		64508539	70497977	79	50258											
CDC42BPG	55561	broad.mit.edu	37	chr11	64606237	64606237	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccgctcccagtccacgccTtcgaagaaaggatggttccg	9	7	11	14	4	0	1	0	0	0	1	4	3	3	2	5	2	1	2	5	2	2	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr11:64606237T>C	ENST00000342711.5	-	8	1013	c.1014A>G	c.(1012-1014)gaA>gaG	p.E338E		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	338	AGC-kinase C-terminal.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGTCCACGCCTTCGAAGAAAG	0.637													29	66					0	0	0	0	C	64606237	T	C	64606237	2	2	280	1	0	0	0	0	0	0	0	1	3103	1606	56	5		5	CDC42BPG	11	64606237	Silent	SNP	T	TCGA-CV-7102-01A-11D-2012-08	97698	64606237	70400279	80	50259											
OMP	4975	broad.mit.edu	37	chr11	76813990	76813990	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagagcctgaagcagcgCggggagaagcgccaggatgg	10	3	20	8	3	0	3	0	1	0	2	0	6	0	4	2	5	4	1	2	5	2	0			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr11:76813990C>T	ENST00000529803.1	+	1	105	c.105C>T	c.(103-105)cgC>cgT	p.R35R	CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000456580.2_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	35					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TGAAGCAGCGCGGGGAGAAGC	0.672													17	27					0	0	0	0	T	76813990	C	T	76813990	2	4	280	1	0	0	0	0	0	0	0	1	10938	755	27	1		1	OMP	11	76813990	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	12207753	76813990	58192526	81	50260											
CDKN1B	1027	broad.mit.edu	37	chr12	12870859	12870859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccccaagccctcggcctGcaggaacctcttcggcccgg	6	5	11	19	3	1	0	0	0	1	0	3	1	1	1	6	4	3	2	6	4	2	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:12870859G>T	ENST00000228872.4	+	1	802	c.86G>T	c.(85-87)tGc>tTc	p.C29F	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Missense_Mutation_p.C29F	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	29					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CCCTCGGCCTGCAGGAACCTC	0.617													37	71					1.90571e-15	3.71228e-15	1	0	T	12870859	G	T	12870859	3	4	280	1	0	0	0	0	1	0	0	0	3188	1319	46	4	88	4	CDKN1B	12	12870859	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08		12870859	120981036	82	50261											
SLCO1B3	28234	broad.mit.edu	37	chr12	21032551	21032551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcagttgccggcctaacCttgacctatgatgggtttgt	9	13	10	9	1	1	2	1	2	0	0	1	2	1	2	4	2	2	2	4	2	3	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:21032551C>T	ENST00000381545.3	+	11	1536	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	SLCO1B3_ENST00000261196.2_Silent_p.T439T|LST3_ENST00000540229.1_Silent_p.T439T|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Silent_p.T439T	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	439					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CCGGCCTAACCTTGACCTATG	0.313													18	47					0	0	0	0	T	21032551	C	T	21032551	2	4	280	1	0	0	0	0	0	0	0	1	14812	668	24	4		4	SLCO1B3	12	21032551	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	8161692	21032551	112819344	83	50262											
GYS2	2998	broad.mit.edu	37	chr12	21693480	21693480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagaatcatctggagaaCggaaccgcctgtcaacgatg	13	7	11	10	3	3	2	2	0	1	2	3	5	3	3	2	2	4	1	2	2	5	0			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:21693480C>T	ENST00000261195.2	-	14	1927	c.1673G>A	c.(1672-1674)cGt>cAt	p.R558H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	558					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCTGGAGAACGGAACCGCCT	0.418													16	101					0	0	0	0	T	21693480	C	T	21693480	3	4	280	1	0	0	0	0	1	0	0	0	6963	536	19	1	450	1	GYS2	12	21693480	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	660929	21693480	112158415	84	50263											
CNTN1	1272	broad.mit.edu	37	chr12	41421672	41421672	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagctcctagccagccTccaaggatcatcagttcagt	10	10	7	14	0	4	0	4	0	0	0	6	1	6	1	4	1	3	2	4	1	2	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:41421672T>A	ENST00000551295.2	+	22	2841	c.2724T>A	c.(2722-2724)ccT>ccA	p.P908P	CNTN1_ENST00000348761.2_Silent_p.P897P|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Silent_p.P908P	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	908	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTAGCCAGCCTCCAAGGATCA	0.408													20	31					0	0	0	0	A	41421672	T	A	41421672	2	1	280	1	0	0	0	0	0	0	0	1	3670	1538	54	5		5	CNTN1	12	41421672	Silent	SNP	T	TCGA-CV-7102-01A-11D-2012-08	19728192	41421672	92430223	85	50264											
CALCOCO1	57658	broad.mit.edu	37	chr12	54115808	54115808	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctacctggcccagctcccaCcttgtactgttccatcagct	6	11	6	18	0	1	0	1	0	0	0	3	0	3	0	6	1	4	4	6	1	2	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:54115808C>T	ENST00000548263.1	-	5	658		c.e5+1		CALCOCO1_ENST00000262059.4_Splice_Site|CALCOCO1_ENST00000550804.1_Splice_Site|CALCOCO1_ENST00000430117.2_Splice_Site			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1						steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCAGCTCCCACCTTGTACTGT	0.597													8	68					0	0	0	0	T	54115808	C	T	54115808	5	4	280	1	0	0	0	0	0	0	1	0	2602	521	18	4	1509	4	CALCOCO1	12	54115808	Splice_Site	SNP	C	TCGA-CV-7102-01A-11D-2012-08	12694136	54115808	79736087	86	50265											
CALCOCO1	57658	broad.mit.edu	37	chr12	54117433	54117433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcagagcccccatcagcctCctccagggtcaccagttcat	8	8	8	17	0	4	1	4	0	0	1	6	1	6	1	6	1	2	1	6	1	0	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:54117433C>T	ENST00000548263.1	-	4	442	c.394G>A	c.(394-396)Gag>Aag	p.E132K	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.E132K|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.E132K|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.E99K			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	132	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCATCAGCCTCCTCCAGGGTC	0.577													8	66					0	0	0	0	T	54117433	C	T	54117433	3	4	280	1	0	0	0	0	1	0	0	0	2602	864	30	2	1729	2	CALCOCO1	12	54117433	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	1625	54117433	79734462	87	50266											
TRHDE	29953	broad.mit.edu	37	chr12	72680609	72680609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgccagtggaaacttccGtgtttgaggaagatggatgg	11	11	14	5	1	0	2	0	1	0	1	1	5	1	5	2	4	2	1	2	4	3	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:72680609G>A	ENST00000261180.4	+	2	1024	c.928G>A	c.(928-930)Gtg>Atg	p.V310M		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	310					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGAAACTTCCGTGTTTGAGGA	0.403													56	85					0	0	0	0	A	72680609	G	A	72680609	3	1	280	1	0	0	0	0	1	0	0	0	16574	1145	40	1	934	1	TRHDE	12	72680609	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	18563176	72680609	61171286	88	50267											
CIT	11113	broad.mit.edu	37	chr12	120172977	120172977	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccttacttgcttctggctGgtaagctgcatctctcgttc	4	16	8	13	1	2	0	0	0	2	0	6	0	3	0	1	2	4	6	1	2	2	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:120172977G>A	ENST00000392521.2	-	25	3199	c.3144C>T	c.(3142-3144)acC>acT	p.T1048T	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.T1006T	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1006					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTTCTGGCTGGTAAGCTGCA	0.522													16	79					0	0	0	0	A	120172977	G	A	120172977	2	1	280	1	0	0	0	0	0	0	0	1	3468	1335	47	4		4	CIT	12	120172977	Silent	SNP	G	TCGA-CV-7102-01A-11D-2012-08	47492368	120172977	13678918	89	50268											
CAMKK2	10645	broad.mit.edu	37	chr12	121691083	121691083	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcccaagcttaccttcccaGagaagatcttgcgggtctca	9	9	10	13	1	2	2	1	0	2	2	4	3	3	2	3	2	3	1	3	2	3	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:121691083G>C	ENST00000324774.5	-	10	1928	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	CAMKK2_ENST00000538733.1_Missense_Mutation_p.S367C|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000545538.1_Missense_Mutation_p.S154C|CAMKK2_ENST00000392474.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000412367.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000337174.3_Missense_Mutation_p.S367C|CAMKK2_ENST00000392473.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000404169.3_Missense_Mutation_p.S367C|CAMKK2_ENST00000402834.4_Missense_Mutation_p.S367C|CAMKK2_ENST00000446440.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000347034.2_Missense_Mutation_p.S367C	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	367	Protein kinase.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACCTTCCCAGAGAAGATCTT	0.562													4	56					0	0	0	0	C	121691083	G	C	121691083	3	2	280	1	0	0	0	0	1	0	0	0	2632	942	33	2	708	2	CAMKK2	12	121691083	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	1518106	121691083	12160812	90	50269											
DNAH10	196385	broad.mit.edu	37	chr12	124413860	124413860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgggctgaaactcaacatGagggcaacttacttcaagat	15	9	9	8	0	2	3	2	2	0	1	2	3	2	3	0	2	4	2	0	2	6	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:124413860G>A	ENST00000409039.3	+	70	12016	c.11991G>A	c.(11989-11991)atG>atA	p.M3997I	DNAH10OS_ENST00000514254.2_3'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3997	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AACTCAACATGAGGGCAACTT	0.537													4	16					0	0	0	0	A	124413860	G	A	124413860	3	1	280	1	0	0	0	0	1	0	0	0	4635	1290	45	2	12269	2	DNAH10	12	124413860	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	2722777	124413860	9438035	91	50270											
OR4M1	441670	broad.mit.edu	37	chr14	20248671	20248671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcctatgtatttcctgttgGctaatctggccctccttgat	5	17	7	12	0	1	1	0	1	1	0	4	1	4	1	4	2	0	3	4	2	3	6	rs114064896	byFrequency	TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:20248671G>T	ENST00000315957.4	+	1	271	c.190G>T	c.(190-192)Gct>Tct	p.A64S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCCTGTTGGCTAATCTGGC	0.408													28	442					2.61193e-14	5.00126e-14	1	0	T	20248671	G	T	20248671	3	4	280	1	0	0	0	0	1	0	0	0	11146	1203	42	4	192	4	OR4M1	14	20248671	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08		20248671	87100869	92	50271											
NID2	22795	broad.mit.edu	37	chr14	52481133	52481133	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaggggtcacatctggccGgggcgtgggccggaccatgg	5	6	20	10	3	2	0	1	0	1	0	2	2	2	2	3	9	0	0	3	9	0	0			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:52481133G>T	ENST00000216286.5	-	16	3291	c.3292C>A	c.(3292-3294)Cgg>Agg	p.R1098R	NID2_ENST00000541773.1_Silent_p.R997R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1098						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACATCTGGCCGGGGCGTGGGC	0.617											OREG0022678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	30					2.37509e-13	4.52207e-13	1	0	T	52481133	G	T	52481133	2	4	280	1	0	0	0	0	0	0	0	1	10485	1115	39	3		3	NID2	14	52481133	Silent	SNP	G	TCGA-CV-7102-01A-11D-2012-08	32232462	52481133	54868407	93	50272											
DAAM1	23002	broad.mit.edu	37	chr14	59791160	59791160	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaagggaacacgaaaattCaacattagataggtaagtca	19	9	8	5	1	2	1	2	0	0	1	2	3	2	2	0	2	2	1	0	2	8	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:59791160C>G	ENST00000395125.1	+	7	1000	c.977C>G	c.(976-978)tCa>tGa	p.S326*	DAAM1_ENST00000360909.3_Nonsense_Mutation_p.S326*|DAAM1_ENST00000351081.1_Nonsense_Mutation_p.S326*	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	326	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CACGAAAATTCAACATTAGAT	0.363													3	49					0	0	0	0	G	59791160	C	G	59791160	4	3	280	1	0	0	0	0	0	1	0	0	4248	838	29	2	1003	2	DAAM1	14	59791160	Nonsense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	7310027	59791160	47558380	94	50273											
DCAF4	26094	broad.mit.edu	37	chr14	73408452	73408452	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttttttgtaataaatataGattgccaggatgggatttaa	13	17	8	3	0	1	1	0	0	1	1	1	3	1	3	1	2	1	1	1	2	6	10			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:73408452G>C	ENST00000553457.1	+	4	341		c.e4-1		DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000555042.1_Splice_Site|DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000394234.2_Splice_Site|DCAF4_ENST00000358377.2_Splice_Site			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4							CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						AATAAATATAGATTGCCAGGA	0.368													39	75					0	0	0	0	C	73408452	G	C	73408452	5	2	280	1	0	0	0	0	0	0	1	0	4303	956	33	2	365	2	DCAF4	14	73408452	Splice_Site	SNP	G	TCGA-CV-7102-01A-11D-2012-08	13617292	73408452	33941088	95	50274											
OTUB2	78990	broad.mit.edu	37	chr14	94511065	94511065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcggccttcatcaggaaccGagcagacttcttccggcact	8	9	10	14	3	3	1	2	0	1	1	5	3	4	2	3	3	2	2	3	3	1	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:94511065G>A	ENST00000203664.5	+	5	646	c.437G>A	c.(436-438)cGa>cAa	p.R146Q		NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	146	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		ATCAGGAACCGAGCAGACTTC	0.587													19	25					0	0	0	0	A	94511065	G	A	94511065	3	1	280	1	0	0	0	0	1	0	0	0	11383	1058	37	1	455	1	OTUB2	14	94511065	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	21102613	94511065	12838475	96	50275											
TCL1A	8115	broad.mit.edu	37	chr14	96178699	96178699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacgacgtcttcccgaCgcaagagcacccgtaactgt	10	6	10	15	5	1	1	0	0	1	1	2	4	2	2	3	1	2	3	3	1	2	2	rs146705048	byFrequency	TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:96178699C>T	ENST00000402399.1	-	2	284	c.155G>A	c.(154-156)cGt>cAt	p.R52H	TCL1A_ENST00000555202.1_Missense_Mutation_p.R52H|RP11-164H13.1_ENST00000553445.1_RNA|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000556450.1_Missense_Mutation_p.R52H|TCL1A_ENST00000554012.1_Missense_Mutation_p.R52H	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	52					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GTCTTCCCGACGCAAGAGCAC	0.567			T	TRA@	T-CLL								21	96					0	0	0	0	T	96178699	C	T	96178699	3	4	280	1	0	0	0	0	1	0	0	0	15798	536	19	1	197	1	TCL1A	14	96178699	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	1667634	96178699	11170841	97	50276											
DUOX1	53905	broad.mit.edu	37	chr15	45433157	45433157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctagagctgctccctggggGactcctggagagccaccggg	6	6	16	13	1	0	2	0	0	0	2	2	4	2	3	4	4	3	3	4	4	1	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:45433157G>A	ENST00000321429.4	+	14	1861	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E	DUOX1_ENST00000389037.3_Missense_Mutation_p.G485E|DUOX1_ENST00000561166.1_Missense_Mutation_p.G131E	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	485	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTCCCTGGGGGACTCCTGGAG	0.572													27	79					0	0	0	0	A	45433157	G	A	45433157	3	1	280	1	0	0	0	0	1	0	0	0	4836	1174	41	2	1500	2	DUOX1	15	45433157	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08		45433157	57098235	98	50277											
MYO5A	4644	broad.mit.edu	37	chr15	52632529	52632529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctctggatctccccaCggagggcctcggcctcattc	5	9	11	16	2	4	0	2	0	2	0	7	2	4	2	4	5	0	1	4	5	0	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:52632529C>A	ENST00000399231.3	-	32	4346	c.4103G>T	c.(4102-4104)cGt>cTt	p.R1368L	MYO5A_ENST00000358212.6_Missense_Mutation_p.R1368L|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1365L|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1341L|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1341L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1368					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GATCTCCCCACGGAGGGCCTC	0.637													19	82					5.03518e-11	9.42698e-11	1	0	A	52632529	C	A	52632529	3	1	280	1	0	0	0	0	1	0	0	0	10148	536	19	3	1504	3	MYO5A	15	52632529	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	7199372	52632529	49898863	99	50278											
HERC1	8925	broad.mit.edu	37	chr15	63978604	63978604	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctgtagatgccaatccaTatcctttccctccactgccg	7	12	5	17	1	0	1	0	0	0	1	5	1	5	1	7	0	2	1	7	0	3	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:63978604T>C	ENST00000443617.2	-	34	6266	c.6179A>G	c.(6178-6180)tAt>tGt	p.Y2060C	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2060	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGCCAATCCATATCCTTTCCC	0.408													80	143					0	0	0	0	C	63978604	T	C	63978604	3	2	280	1	0	0	0	0	1	0	0	0	7107	1406	49	5	8586	5	HERC1	15	63978604	Missense_Mutation	SNP	T	TCGA-CV-7102-01A-11D-2012-08	11346075	63978604	38552788	100	50279											
MYO9A	4649	broad.mit.edu	37	chr15	72244166	72244166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatctctaagctcctctggtGgactgggtgttggagaaagc	9	11	13	8	0	2	1	0	0	2	1	4	3	3	2	1	4	2	2	1	4	3	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:72244166G>A	ENST00000356056.5	-	15	2726	c.2254C>T	c.(2254-2256)Cac>Tac	p.H752Y	MYO9A_ENST00000564571.1_Missense_Mutation_p.H752Y|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.H752Y|MYO9A_ENST00000444904.1_Missense_Mutation_p.H733Y|MYO9A_ENST00000566885.1_Missense_Mutation_p.H347Y	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	752					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTCCTCTGGTGGACTGGGTGT	0.383													24	134					0	0	0	0	A	72244166	G	A	72244166	3	1	280	1	0	0	0	0	1	0	0	0	10154	1348	47	4	5504	4	MYO9A	15	72244166	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	8265562	72244166	30287226	101	50280											
ARIH1	25820	broad.mit.edu	37	chr15	72873104	72873104	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccctgcagaggtacctgttCtactgtaatcgctatatgaa	10	12	9	10	1	1	2	0	1	1	1	2	2	1	2	2	1	3	5	2	1	6	6			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:72873104C>G	ENST00000379887.4	+	12	1562	c.1248C>G	c.(1246-1248)ttC>ttG	p.F416L	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	416					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						GGTACCTGTTCTACTGTAATC	0.418													7	43					0	0	0	0	G	72873104	C	G	72873104	3	3	280	1	0	0	0	0	1	0	0	0	925	912	32	2	1294	2	ARIH1	15	72873104	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	628938	72873104	29658288	102	50281											
TSC2	7249	broad.mit.edu	37	chr16	2121792	2121792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgcttctgcagggagccaGagagaggctctgagaagaag	11	7	15	8	0	2	4	0	1	2	4	2	7	2	5	1	2	3	3	1	2	2	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:2121792G>C	ENST00000219476.3	+	19	2584	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q	TSC2_ENST00000401874.2_Missense_Mutation_p.E652Q|TSC2_ENST00000350773.4_Missense_Mutation_p.E652Q|TSC2_ENST00000439673.2_Missense_Mutation_p.E615Q|TSC2_ENST00000382538.6_Missense_Mutation_p.E603Q|TSC2_ENST00000353929.4_Missense_Mutation_p.E652Q|TSC2_ENST00000568454.1_Missense_Mutation_p.E663Q	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	652					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGGAGCCAGAGAGAGGCTC	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				3	13					0	0	0	0	C	2121792	G	C	2121792	3	2	280	1	0	0	0	0	1	0	0	0	16701	943	33	2	2024	2	TSC2	16	2121792	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08		2121792	88232961	103	50282											
TRAF7	84231	broad.mit.edu	37	chr16	2218133	2218133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaccctcctcctccagcacCcttgcctactccccgcggga	6	7	6	22	2	0	0	0	0	0	0	4	1	4	1	8	1	3	1	8	1	1	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:2218133C>T	ENST00000326181.6	+	4	327	c.195C>T	c.(193-195)acC>acT	p.T65T		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	65					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CCTCCAGCACCCTTGCCTACT	0.672													5	17					0	0	0	0	T	2218133	C	T	2218133	2	4	280	1	0	0	0	0	0	0	0	1	16541	610	22	4		4	TRAF7	16	2218133	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	96341	2218133	88136620	104	50283											
TAOK2	9344	broad.mit.edu	37	chr16	30002132	30002132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatgagacccaggaggcaGagttccaggcccttcggcag	9	7	14	11	1	0	3	0	2	0	2	2	5	1	4	3	4	0	3	3	4	0	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:30002132G>A	ENST00000279394.3	+	18	2876	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	704	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCAGGAGGCAGAGTTCCAGGC	0.602													9	54					0	0	0	0	A	30002132	G	A	30002132	3	1	280	1	0	0	0	0	1	0	0	0	15639	943	33	2	4015	2	TAOK2	16	30002132	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	27783999	30002132	60352621	105	50284											
CTCF	10664	broad.mit.edu	37	chr16	67660529	67660529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttactgtgatgctgtgtttCatgagcgctatgccctcatc	6	15	10	10	1	2	2	2	2	0	0	3	2	2	2	1	0	4	4	1	0	2	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:67660529C>T	ENST00000264010.4	+	8	1873	c.1429C>T	c.(1429-1431)Cat>Tat	p.H477Y	CTCF_ENST00000401394.1_Missense_Mutation_p.H149Y	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	477					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TGCTGTGTTTCATGAGCGCTA	0.463													11	48					0	0	0	0	T	67660529	C	T	67660529	3	4	280	1	0	0	0	0	1	0	0	0	4032	826	29	2	1451	2	CTCF	16	67660529	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	37658397	67660529	22694224	106	50285											
CDH13	1012	broad.mit.edu	37	chr16	83159053	83159053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaggtccattgtggtatctCccattttaattccagagaat	11	14	8	8	0	1	2	0	0	1	2	4	3	3	2	3	2	0	1	3	2	3	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:83159053C>T	ENST00000566620.1	+	4	720	c.430C>T	c.(430-432)Ccc>Tcc	p.P144S	CDH13_ENST00000446376.2_Missense_Mutation_p.P144S|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.P191S|CDH13_ENST00000565636.1_Missense_Mutation_p.P144S|CDH13_ENST00000431540.3_Missense_Mutation_p.P144S|CDH13_ENST00000428848.3_Intron	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	144	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGTGGTATCTCCCATTTTAAT	0.363													14	28					0	0	0	0	T	83159053	C	T	83159053	3	4	280	1	0	0	0	0	1	0	0	0	3128	855	30	2	444	2	CDH13	16	83159053	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	15498524	83159053	7195700	107	50286											
FBXO31	79791	broad.mit.edu	37	chr16	87365041	87365041	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacccgaagcggtcctcatcGaagaggatgaagaccccggg	12	4	13	12	4	1	3	1	1	0	2	3	6	2	4	4	3	2	0	4	3	4	0	rs141426651		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:87365041G>A	ENST00000311635.7	-	9	1485	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	RP11-178L8.4_ENST00000568879.1_Intron	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	491					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGTCCTCATCGAAGAGGATGA	0.612													11	24					0	0	0	0	A	87365041	G	A	87365041	2	1	280	1	0	0	0	0	0	0	0	1	5786	1049	37	1		1	FBXO31	16	87365041	Silent	SNP	G	TCGA-CV-7102-01A-11D-2012-08	4205988	87365041	2989712	108	50287											
ASGR1	432	broad.mit.edu	37	chr17	7077514	7077514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagccggcagtagttGtcggcgtcagcccaggcctt	5	9	12	15	3	1	0	1	0	0	0	4	0	3	0	5	3	2	3	5	3	1	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:7077514G>T	ENST00000574388.1	-	5	1212	c.420C>A	c.(418-420)gaC>gaA	p.D140E	ASGR1_ENST00000269299.3_Missense_Mutation_p.D179E|ASGR1_ENST00000572879.1_Missense_Mutation_p.D39E|ASGR1_ENST00000380920.4_Missense_Mutation_p.D78E			P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	179					receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GGCAGTAGTTGTCGGCGTCAG	0.677													42	60					4.44401e-20	8.8096e-20	1	0	T	7077514	G	T	7077514	3	4	280	1	0	0	0	0	1	0	0	0	1043	1368	48	4	350	4	ASGR1	17	7077514	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08		7077514	74117696	109	50288											
TP53	7157	broad.mit.edu	37	chr17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcacctcaaagctgttccgtCccagtagattaccactactc	10	10	6	15	1	1	1	1	0	0	1	4	1	3	1	4	0	3	4	4	0	4	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:7577141C>T	ENST00000420246.2	-	8	929	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCTGTTCCGTCCCAGTAGATT	0.517		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	10					0	0	0	0	T	7577141	C	T	7577141	3	4	280	1	0	0	0	0	1	0	0	0	16476	855	30	2	489	2	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	499627	7577141	73618069	110	50289											
AURKB	9212	broad.mit.edu	37	chr17	8108663	8108663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgcatgcgcccctcaatCatctctgggggcaggtagtc	6	11	12	12	1	3	0	2	0	1	0	5	0	3	0	2	3	2	3	2	3	2	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:8108663C>T	ENST00000316199.6	-	8	812	c.735G>A	c.(733-735)atG>atA	p.M245I	AURKB_ENST00000534871.1_Missense_Mutation_p.M203I|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000585124.1_Missense_Mutation_p.M244I|AURKB_ENST00000578549.1_Missense_Mutation_p.M212I			Q96GD4	AURKB_HUMAN	aurora kinase B	244	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						GCCCCTCAATCATCTCTGGGG	0.562													14	64					0	0	0	0	T	8108663	C	T	8108663	3	4	280	1	0	0	0	0	1	0	0	0	1227	826	29	2	310	2	AURKB	17	8108663	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	531522	8108663	73086547	111	50290											
GOSR1	9527	broad.mit.edu	37	chr17	28811740	28811740	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgcaggtgtcccctccttGaatgcagccctgatgcatac	8	10	10	13	0	0	2	0	2	0	0	2	2	2	2	4	1	5	3	4	1	2	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:28811740G>C	ENST00000225724.5	+	4	372	c.300G>C	c.(298-300)ttG>ttC	p.L100F	GOSR1_ENST00000581721.1_Missense_Mutation_p.L100F|GOSR1_ENST00000451249.2_Missense_Mutation_p.L98F|GOSR1_ENST00000467337.2_Missense_Mutation_p.L35F	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	100					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						TCCCCTCCTTGAATGCAGCCC	0.363													7	44					0	0	0	0	C	28811740	G	C	28811740	3	2	280	1	0	0	0	0	1	0	0	0	6625	1281	45	2	314	2	GOSR1	17	28811740	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	20703077	28811740	52383470	112	50291											
PIP4K2B	8396	broad.mit.edu	37	chr17	36927374	36927374	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgtccggaggtgtgccaTaggagcagagtaggttgcca	8	8	17	8	1	0	1	0	0	0	1	1	3	1	3	3	5	3	4	3	5	2	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:36927374T>A	ENST00000269554.3	-	8	1439	c.959A>T	c.(958-960)tAt>tTt	p.Y320F		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	320	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGGTGTGCCATAGGAGCAGAG	0.597													19	47					0	0	0	0	A	36927374	T	A	36927374	3	1	280	1	0	0	0	0	1	0	0	0	12009	1406	49	5	303	5	PIP4K2B	17	36927374	Missense_Mutation	SNP	T	TCGA-CV-7102-01A-11D-2012-08	8115634	36927374	44267836	113	50292											
KRT23	25984	broad.mit.edu	37	chr17	39086308	39086308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcggaggccctcgacttCaatttccaagtctttcttaa	8	14	6	13	2	3	0	1	0	2	0	6	2	4	1	3	2	0	0	3	2	3	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:39086308C>G	ENST00000209718.3	-	4	944	c.520G>C	c.(520-522)Gaa>Caa	p.E174Q	KRT23_ENST00000436344.3_Missense_Mutation_p.E37Q|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	174	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CCCTCGACTTCAATTTCCAAG	0.443													21	95					0	0	0	0	G	39086308	C	G	39086308	3	3	280	1	0	0	0	0	1	0	0	0	8512	835	29	2	772	2	KRT23	17	39086308	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	2158934	39086308	42108902	114	50293											
DUSP3	1845	broad.mit.edu	37	chr17	41847077	41847077	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacggttctgcctcacgAtgctcagggcagacttgacg	7	10	11	13	3	4	2	3	1	2	1	5	3	4	2	1	2	2	3	1	2	0	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:41847077A>G	ENST00000226004.3	-	3	521	c.458T>C	c.(457-459)aTc>aCc	p.I153T	DUSP3_ENST00000397937.2_Missense_Mutation_p.I112T	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	153	Tyrosine-protein phosphatase.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		CTGCCTCACGATGCTCAGGGC	0.582													9	53					0	0	0	0	G	41847077	A	G	41847077	3	3	280	1	0	0	0	0	1	0	0	0	4862	333	12	5	103	5	DUSP3	17	41847077	Missense_Mutation	SNP	A	TCGA-CV-7102-01A-11D-2012-08	2760769	41847077	39348133	115	50294											
LRRC37A2	474170	broad.mit.edu	37	chr17	44626223	44626223	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagccttccttcacccaaGagcataaggcagcagtctct	11	8	7	15	0	2	1	1	0	1	1	4	1	3	1	4	1	3	3	4	1	3	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:44626223G>C	ENST00000576629.1	+	10	4213	c.3718G>C	c.(3718-3720)Gag>Cag	p.E1240Q	ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.E1240Q|ARL17A_ENST00000329240.4_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1240						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CTTCACCCAAGAGCATAAGGC	0.592													17	223					0	0	0	0	C	44626223	G	C	44626223	3	2	280	1	0	0	0	0	1	0	0	0	9056	943	33	2	3752	2	LRRC37A2	17	44626223	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	2779146	44626223	36568987	116	50295											
MRPS7	51081	broad.mit.edu	37	chr17	73258060	73258060	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcgggctgtcttgcagcttCcagggtgagagggtggcgag	5	8	20	8	2	1	1	0	1	1	1	2	3	2	1	1	5	2	3	1	5	0	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:73258060C>G	ENST00000579761.1	+	1	306	c.79C>G	c.(79-81)Cca>Gca	p.P27A	GGA3_ENST00000582717.1_Intron|MRPS7_ENST00000579002.1_5'UTR|GGA3_ENST00000582486.1_Intron|GGA3_ENST00000579743.1_Intron|MRPS7_ENST00000245539.6_Missense_Mutation_p.P27A|GGA3_ENST00000578348.1_Intron			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	27					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CTTGCAGCTTCCAGGGTGAGA	0.721													10	61					0	0	0	0	G	73258060	C	G	73258060	3	3	280	1	0	0	0	0	1	0	0	0	9918	855	30	2	81	2	MRPS7	17	73258060	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	28631837	73258060	7937150	117	50296											
DTNA	1837	broad.mit.edu	37	chr18	32457760	32457760	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatgtcctctcttgtgaaaGagctgaattctggtgagttc	8	15	10	8	0	2	4	0	3	2	1	5	4	3	4	1	1	1	2	1	1	3	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr18:32457760G>C	ENST00000283365.9	+	18	2080	c.1729G>C	c.(1729-1731)Gag>Cag	p.E577Q	DTNA_ENST00000399113.3_Missense_Mutation_p.E634Q|DTNA_ENST00000269192.7_Missense_Mutation_p.E343Q|DTNA_ENST00000269190.7_Missense_Mutation_p.E635Q|DTNA_ENST00000444659.1_Missense_Mutation_p.E634Q|DTNA_ENST00000399097.3_Missense_Mutation_p.E282Q|DTNA_ENST00000598334.1_Missense_Mutation_p.E574Q|DTNA_ENST00000399121.5_Missense_Mutation_p.E581Q|DTNA_ENST00000591182.1_Missense_Mutation_p.E282Q|DTNA_ENST00000598142.1_Missense_Mutation_p.E577Q|DTNA_ENST00000590831.2_Missense_Mutation_p.E60Q|DTNA_ENST00000556414.3_Missense_Mutation_p.E286Q|DTNA_ENST00000595022.1_Missense_Mutation_p.E574Q|DTNA_ENST00000601125.1_Missense_Mutation_p.E256Q	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	634					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TCTTGTGAAAGAGCTGAATTC	0.423													6	27					0	0	0	0	C	32457760	G	C	32457760	3	2	280	1	0	0	0	0	1	0	0	0	4824	943	33	2	2060	2	DTNA	18	32457760	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08		32457760	45619488	118	50297											
LIPG	9388	broad.mit.edu	37	chr18	47107900	47107900	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcactgactccaatcgcttCaaaaaggggatctgtctgag	11	10	10	10	1	3	2	1	2	2	0	5	3	4	3	1	2	1	2	1	2	3	1	rs34325187		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr18:47107900C>T	ENST00000261292.4	+	6	1187	c.909C>T	c.(907-909)ttC>ttT	p.F303F	LIPG_ENST00000577628.1_Silent_p.F339F|LIPG_ENST00000580036.1_Silent_p.F303F|LIPG_ENST00000427224.2_Silent_p.F229F	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	303					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CCAATCGCTTCAAAAAGGGGA	0.468													17	116					0	0	0	0	T	47107900	C	T	47107900	2	4	280	1	0	0	0	0	0	0	0	1	8878	825	29	2		2	LIPG	18	47107900	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	14650140	47107900	30969348	119	50298											
WDR7	23335	broad.mit.edu	37	chr18	54358527	54358527	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaccgggggggactttgtCtcatcagataaagtcatcat	10	11	12	8	1	4	1	4	0	1	1	5	3	4	3	1	4	0	0	1	4	2	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr18:54358527C>G	ENST00000254442.3	+	8	1009	c.798C>G	c.(796-798)gtC>gtG	p.V266V	WDR7_ENST00000357574.3_Silent_p.V266V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	266										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGGACTTTGTCTCATCAGATA	0.418													35	58					0	0	0	0	G	54358527	C	G	54358527	2	3	280	1	0	0	0	0	0	0	0	1	17416	900	32	2		2	WDR7	18	54358527	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	7250627	54358527	23718721	120	50299											
NFIC	4782	broad.mit.edu	37	chr19	3452481	3452481	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcccactgtctccgcaggGatcgcccggagcccacaccc	6	6	9	20	3	1	0	0	0	1	0	4	2	2	2	5	2	1	1	5	2	0	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:3452481G>T	ENST00000589123.1	+	8	1179	c.1057_splice	c.e8-1	p.G353_splice	NFIC_ENST00000341919.3_Splice_Site_p.G362_splice|NFIC_ENST00000590282.1_Splice_Site_p.G362_splice|NFIC_ENST00000586919.1_Splice_Site_p.G329_splice|NFIC_ENST00000443272.2_Splice_Site_p.G362_splice|NFIC_ENST00000395111.3_Splice_Site_p.G353_splice|NFIC_ENST00000346156.5_Splice_Site_p.G329_splice	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	362					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		TCTCCGCAGGGATCGCCCGGA	0.647													52	181					1.46156e-29	2.94937e-29	1	0	T	3452481	G	T	3452481	5	4	280	1	0	0	0	0	0	0	1	0	10442	1188	41	2	1123	2	NFIC	19	3452481	Splice_Site	SNP	G	TCGA-CV-7102-01A-11D-2012-08		3452481	55676502	121	50300											
GIPC3	126326	broad.mit.edu	37	chr19	3586841	3586841	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaggcagtatcatcaaccgGatcgaggcagtgtgcgtggg	10	7	16	8	3	2	0	2	0	0	0	3	3	2	1	1	4	2	3	1	4	3	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:3586841G>A	ENST00000322315.5	+	3	486	c.441G>A	c.(439-441)cgG>cgA	p.R147R		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	147	PDZ.									breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATCAACCGGATCGAGGCAG	0.622											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	15					0	0	0	0	A	3586841	G	A	3586841	2	1	280	1	0	0	0	0	0	0	0	1	6445	1161	41	2		2	GIPC3	19	3586841	Silent	SNP	G	TCGA-CV-7102-01A-11D-2012-08	134360	3586841	55542142	122	50301											
SEMA6B	10501	broad.mit.edu	37	chr19	4552583	4552583	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggaaggacgtccactgCttctccagcacgcgggggga	8	7	14	12	3	2	0	1	0	1	0	4	3	3	3	2	5	2	2	2	5	1	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:4552583C>T	ENST00000586582.1	-	10	1150	c.840G>A	c.(838-840)aaG>aaA	p.K280K	SEMA6B_ENST00000301293.3_Silent_p.K280K|SEMA6B_ENST00000586965.1_Silent_p.K280K	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	280	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCCACTGCTTCTCCAGCA	0.657													10	12					0	0	0	0	T	4552583	C	T	4552583	2	4	280	1	0	0	0	0	0	0	0	1	14127	796	28	4		4	SEMA6B	19	4552583	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	965742	4552583	54576400	123	50302											
LRRC8E	80131	broad.mit.edu	37	chr19	7964812	7964812	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggagctcagcttgctcCactcgcccgccaggctaccc	6	7	10	18	2	1	0	1	0	0	0	3	1	2	1	4	2	5	5	4	2	1	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:7964812C>T	ENST00000539278.1	-	1	3615	c.455G>A	c.(454-456)tGg>tAg	p.W152*	LRRC8E_ENST00000306708.6_Missense_Mutation_p.H469Y																							CAGCTTGCTCCACTCGCCCGC	0.632													9	22					0	0	0	0	T	7964812	C	T	7964812	4	4	280	1	0	0	0	0	0	1	0	0	9089	594	21	4	1411	4	LRRC8E	19	7964812	Nonsense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	3412229	7964812	51164171	124	50303											
UNC13A	23025	broad.mit.edu	37	chr19	17737530	17737530	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggctggcacattgcctgTgcccttaacctggctaagga	8	10	11	12	0	0	0	0	0	0	0	0	1	0	1	3	4	3	3	3	4	2	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:17737530T>C	ENST00000428389.2	-	35	4248	c.4249A>G	c.(4249-4251)Aca>Gca	p.T1417A	UNC13A_ENST00000552293.1_Missense_Mutation_p.T1329A|UNC13A_ENST00000551649.1_Missense_Mutation_p.T1329A|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1327A|UNC13A_ENST00000252773.7_Missense_Mutation_p.T1329A|UNC13A_ENST00000519716.2_Missense_Mutation_p.T1329A			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1329	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ACATTGCCTGTGCCCTTAACC	0.592													8	12					0	0	0	0	C	17737530	T	C	17737530	3	2	280	1	0	0	0	0	1	0	0	0	17080	1696	59	5	1166	5	UNC13A	19	17737530	Missense_Mutation	SNP	T	TCGA-CV-7102-01A-11D-2012-08	9772718	17737530	41391453	125	50304											
KLHL26	55295	broad.mit.edu	37	chr19	18778789	18778789	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttccggcacttcctgcaGatcgccgaggaggaggattt	8	9	12	12	3	0	1	0	0	0	1	3	5	2	4	4	4	1	2	4	4	0	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:18778789G>C	ENST00000300976.4	+	3	672	c.582G>C	c.(580-582)caG>caC	p.Q194H	KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	194	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ACTTCCTGCAGATCGCCGAGG	0.637													9	50					0	0	0	0	C	18778789	G	C	18778789	3	2	280	1	0	0	0	0	1	0	0	0	8433	933	33	2	592	2	KLHL26	19	18778789	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	1041259	18778789	40350194	126	50305											
ZNF101	94039	broad.mit.edu	37	chr19	19790800	19790800	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaagagctcacactggAgaaagaccttatgaatgtaa	17	8	9	7	0	1	5	1	2	0	3	1	6	1	5	1	1	1	2	1	1	5	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:19790800A>T	ENST00000592502.1	+	4	1112	c.1002A>T	c.(1000-1002)ggA>ggT	p.G334G	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Silent_p.G214G			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CTCACACTGGAGAAAGACCTT	0.368													6	31					0	0	0	0	T	19790800	A	T	19790800	2	4	280	1	0	0	0	0	0	0	0	1	17809	291	11	5		5	ZNF101	19	19790800	Silent	SNP	A	TCGA-CV-7102-01A-11D-2012-08	1012011	19790800	39338183	127	50306											
ZNF430	80264	broad.mit.edu	37	chr19	21239886	21239886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagaagaattcatactggaGagaaaccctacaaatgtgaa	19	7	8	7	0	1	4	1	1	0	3	1	6	1	5	1	1	3	0	1	1	7	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:21239886G>C	ENST00000261560.5	+	5	953	c.772G>C	c.(772-774)Gag>Cag	p.E258Q		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCATACTGGAGAGAAACCCTA	0.368													5	50					0	0	0	0	C	21239886	G	C	21239886	3	2	280	1	0	0	0	0	1	0	0	0	17999	943	33	2	790	2	ZNF430	19	21239886	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	1449086	21239886	37889097	128	50307											
FCGBP	8857	broad.mit.edu	37	chr19	40408042	40408042	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccctcagcacacccaTcctggcactgtggaggggca	8	5	13	15	0	1	0	1	0	0	0	2	1	2	1	3	5	2	4	3	5	0	0			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:40408042T>A	ENST00000221347.6	-	9	4686	c.4679A>T	c.(4678-4680)gAt>gTt	p.D1560V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1560	Cys-rich.|TIL 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGCACACCCATCCTGGCACTG	0.617													12	40					0	0	0	0	A	40408042	T	A	40408042	3	1	280	1	0	0	0	0	1	0	0	0	5823	1435	50	5	11650	5	FCGBP	19	40408042	Missense_Mutation	SNP	T	TCGA-CV-7102-01A-11D-2012-08	19168156	40408042	18720941	129	50308											
HIF3A	64344	broad.mit.edu	37	chr19	46808523	46808523	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagtggaaccaggtgggagCagggggagaaccactggatg	11	4	20	6	0	0	1	0	0	0	1	0	6	0	5	2	7	3	1	2	7	2	0			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:46808523C>G	ENST00000339613.2	+	3	326	c.71C>G	c.(70-72)gCa>gGa	p.A24G	HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Intron|HIF3A_ENST00000244303.6_Intron|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000377670.4_Missense_Mutation_p.A80G|HIF3A_ENST00000600383.1_Intron|HIF3A_ENST00000300862.3_Missense_Mutation_p.A78G			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CAGGTGGGAGCAGGGGGAGAA	0.617													18	81					0	0	0	0	G	46808523	C	G	46808523	3	3	280	1	0	0	0	0	1	0	0	0	7155	710	25	4	273	4	HIF3A	19	46808523	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	6400481	46808523	12320460	130	50309											
LENG8	114823	broad.mit.edu	37	chr19	54968931	54968931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttccctttttcaggttttGaaaaagtcgctgtgcatggt	8	16	10	7	1	1	1	1	1	0	0	3	1	2	1	1	2	1	4	1	2	2	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:54968931G>C	ENST00000326764.5	+	12	2216	c.1737G>C	c.(1735-1737)ttG>ttC	p.L579F	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	542							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TTCAGGTTTTGAAAAAGTCGC	0.493													11	87					0	0	0	0	C	54968931	G	C	54968931	3	2	280	1	0	0	0	0	1	0	0	0	8777	1281	45	2	1779	2	LENG8	19	54968931	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	8160408	54968931	4160052	131	50310											
ZNF264	9422	broad.mit.edu	37	chr19	57705330	57705330	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcagcggaccctgtaccagGaggtgatgctggaaaactgt	10	8	13	10	1	1	1	1	1	0	0	1	4	1	4	2	4	4	2	2	4	3	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:57705330G>C	ENST00000263095.6	+	2	535	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	ZNF264_ENST00000599653.1_Missense_Mutation_p.E41Q|ZNF264_ENST00000536056.1_Missense_Mutation_p.E41Q|ZNF264_ENST00000600531.1_Missense_Mutation_p.E41Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CCTGTACCAGGAGGTGATGCT	0.557													23	107					0	0	0	0	C	57705330	G	C	57705330	3	2	280	1	0	0	0	0	1	0	0	0	17899	1175	41	2	127	2	ZNF264	19	57705330	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	2736399	57705330	1423653	132	50311											
ZNF418	147686	broad.mit.edu	37	chr19	58438232	58438232	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgatgctgaatgaggttGccctttcgactaaaagattt	10	13	10	8	2	0	4	0	3	0	1	1	5	0	4	1	1	2	3	1	1	3	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:58438232G>T	ENST00000396147.1	-	4	1608	c.1317C>A	c.(1315-1317)ggC>ggA	p.G439G	ZNF418_ENST00000425570.3_Silent_p.G460G|ZNF418_ENST00000595830.1_Silent_p.G439G|ZNF418_ENST00000599852.1_Silent_p.G354G|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GAATGAGGTTGCCCTTTCGAC	0.473													41	149					1.59361e-14	3.08647e-14	1	0	T	58438232	G	T	58438232	2	4	280	1	0	0	0	0	0	0	0	1	17990	1306	46	4		4	ZNF418	19	58438232	Silent	SNP	G	TCGA-CV-7102-01A-11D-2012-08	732902	58438232	690751	133	50312											
SEL1L2	80343	broad.mit.edu	37	chr20	13839936	13839936	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctaagccgtgttcatacAtataagccagattgaacatg	13	11	8	9	1	1	2	1	1	0	1	1	2	1	2	3	0	5	1	3	0	5	6			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr20:13839936A>T	ENST00000284951.5	-	18	1864	c.1790T>A	c.(1789-1791)aTg>aAg	p.M597K	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	597						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTGTTCATACATATAAGCCAG	0.413													8	31					0	0	0	0	T	13839936	A	T	13839936	3	4	280	1	0	0	0	0	1	0	0	0	14098	217	8	5	288	5	SEL1L2	20	13839936	Missense_Mutation	SNP	A	TCGA-CV-7102-01A-11D-2012-08		13839936	49185584	134	50313											
DYRK1A	1859	broad.mit.edu	37	chr21	38878577	38878577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcacctgccattctcaggtgGagcagcactggatgccaggt	8	9	12	12	0	2	0	2	0	1	0	3	2	2	2	3	4	4	2	3	4	0	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr21:38878577G>C	ENST00000338785.3	+	12	1951	c.1722G>C	c.(1720-1722)tgG>tgC	p.W574C	DYRK1A_ENST00000451934.1_Missense_Mutation_p.W574C|DYRK1A_ENST00000339659.3_Intron|DYRK1A_ENST00000321219.8_Missense_Mutation_p.E518Q|DYRK1A_ENST00000455387.2_Intron|DYRK1A_ENST00000398960.2_Intron|DYRK1A_ENST00000398956.2_Intron	NM_101395.2	NP_567824.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	568					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TTCTCAGGTGGAGCAGCACTG	0.502													4	19					0	0	0	0	C	38878577	G	C	38878577	3	2	280	1	0	0	0	0	1	0	0	0	4890	1183	41	2	1760	2	DYRK1A	21	38878577	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08		38878577	9251318	135	50314											
U2AF1	7307	broad.mit.edu	37	chr21	44521518	44521518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcactgttttggggattacGatagatgttttgaatcaaga	11	15	11	4	1	1	3	1	1	0	2	1	5	1	4	0	2	2	3	0	2	4	6			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr21:44521518G>A	ENST00000380276.2	-	3	227	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	U2AF1_ENST00000291552.4_Intron|U2AF1_ENST00000459639.1_Intron|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_Intron	NM_001025203.1	NP_001020374.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	53					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						TGGGGATTACGATAGATGTTT	0.398			Mis		"CLL, MDS"								79	314					0	0	0	0	A	44521518	G	A	44521518	3	1	280	1	0	0	0	0	1	0	0	0	16917	1058	37	1	660	1	U2AF1	21	44521518	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	5642941	44521518	3608377	136	50315											
AIRE	326	broad.mit.edu	37	chr21	45709685	45709685	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccagggcgctgccccCgtaagcacctgaccttccct	6	6	11	18	2	0	1	0	1	0	0	1	2	1	2	6	2	3	3	6	2	1	2	rs41277550	byFrequency	TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr21:45709685C>T	ENST00000291582.5	+	6	925	c.798_splice	c.e6+1	p.P266_splice		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	266	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GCGCTGCCCCCGTAAGCACCT	0.682									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				18	34					0	0	0	0	T	45709685	C	T	45709685	5	4	280	1	0	0	0	0	0	0	1	0	437	666	23	1	820	1	AIRE	21	45709685	Splice_Site	SNP	C	TCGA-CV-7102-01A-11D-2012-08	1188167	45709685	2420210	137	50316											
KLHL22	84861	broad.mit.edu	37	chr22	20800823	20800823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatgccgtgccaggcgcgCcgcacaggcccatcagccag	7	3	13	18	4	1	0	1	0	0	0	1	0	1	0	6	2	3	1	6	2	0	0			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr22:20800823C>T	ENST00000328879.4	-	6	1602	c.1446G>A	c.(1444-1446)cgG>cgA	p.R482R	KLHL22_ENST00000440659.2_Silent_p.R339R	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	482					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCAGGCGCGCCGCACAGGCC	0.602													19	93					0	0	0	0	T	20800823	C	T	20800823	2	4	280	1	0	0	0	0	0	0	0	1	8429	726	26	4		4	KLHL22	22	20800823	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08		20800823	30503743	138	50317											
CSDC2	27254	broad.mit.edu	37	chr22	41969737	41969737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacagggccatggcttcatCacccccgagaacgggtccga	9	6	11	15	3	3	1	3	0	0	1	4	3	4	1	4	3	1	1	4	3	1	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr22:41969737C>T	ENST00000306149.7	+	3	799	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	85	CSD.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding			prostate(2)|upper_aerodigestive_tract(1)	3						ATGGCTTCATCACCCCCGAGA	0.607													11	84					0	0	0	0	T	41969737	C	T	41969737	2	4	280	1	0	0	0	0	0	0	0	1	3960	816	29	2		2	CSDC2	22	41969737	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	21168914	41969737	9334829	139	50318											
RAI2	10742	broad.mit.edu	37	chrX	17819548	17819548	+	Missense_Mutation	SNP	G	G	T																															tgggggcccgagagtgccctGggagggaaacaaattctgga																										TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:17819548G>T	ENST00000545871.1	-	3	1043	c.583C>A	c.(583-585)Cag>Aag	p.Q195K	RAI2_ENST00000415486.3_Missense_Mutation_p.Q145K|RAI2_ENST00000451717.1_Missense_Mutation_p.Q195K|RAI2_ENST00000331511.1_Missense_Mutation_p.Q195K|RAI2_ENST00000360011.1_Missense_Mutation_p.Q195K	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	195					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGAGTGCCCTGGGAGGGAAAC	0.662													9	42					0.00448238	0.00786751	1	0	T	17819548	G	T	17819548	3	4	280	1	0	0	0	0	1	0	0	0	13091	1357	47	4	1013	4	RAI2	23	17819548	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08		17819548	137451012	140	50319	396	2									
RAI2	10742	broad.mit.edu	37	chrX	17819549	17819549	+	Silent	SNP	G	G	T																															gggggcccgagagtgccctgGgagggaaacaaattctggag																										TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:17819549G>T	ENST00000545871.1	-	3	1042	c.582C>A	c.(580-582)tcC>tcA	p.S194S	RAI2_ENST00000415486.3_Silent_p.S144S|RAI2_ENST00000451717.1_Silent_p.S194S|RAI2_ENST00000331511.1_Silent_p.S194S|RAI2_ENST00000360011.1_Silent_p.S194S	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	194					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GAGTGCCCTGGGAGGGAAACA	0.657													9	41					0.00448238	0.00786751	1	0	T	17819549	G	T	17819549	2	4	280	1	0	0	0	0	0	0	0	1	13091	1219	43	4		4	RAI2	23	17819549	Silent	SNP	G	TCGA-CV-7102-01A-11D-2012-08	1	17819549	137451011	141	50320	396	2									
CXorf23	256643	broad.mit.edu	37	chrX	19983783	19983783	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacgtctttaggtctttttGatgtgtgtccatattttctg	5	20	8	8	1	3	1	0	1	3	0	4	1	4	1	2	1	0	0	2	1	2	7			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:19983783G>C	ENST00000379687.3	-	3	686	c.653C>G	c.(652-654)tCa>tGa	p.S218*	CXorf23_ENST00000379682.4_Nonsense_Mutation_p.S218*|CXorf23_ENST00000356980.3_Nonsense_Mutation_p.S218*	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	218						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AGGTCTTTTTGATGTGTGTCC	0.438													22	101					0	0	0	0	C	19983783	G	C	19983783	4	2	280	1	0	0	0	0	0	1	0	0	4135	1294	45	2	1431	2	CXorf23	23	19983783	Nonsense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	2164234	19983783	135286777	142	50321											
DMD	1756	broad.mit.edu	37	chrX	31947740	31947740	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactggagatttgtctgcttGagcttattttcaagtttatc	8	18	8	7	0	2	2	1	1	1	1	3	3	2	2	0	1	2	3	0	1	3	7			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:31947740G>C	ENST00000357033.4	-	47	7091	c.6885C>G	c.(6883-6885)ctC>ctG	p.L2295L	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Silent_p.L2291L|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2295					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGTCTGCTTGAGCTTATTTT	0.403													16	84					0	0	0	0	C	31947740	G	C	31947740	2	2	280	1	0	0	0	0	0	0	0	1	4617	1277	45	2		2	DMD	23	31947740	Silent	SNP	G	TCGA-CV-7102-01A-11D-2012-08	11963957	31947740	123322820	143	50322											
MAGEH1	28986	broad.mit.edu	37	chrX	55479236	55479236	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaagagtttgtgcgcagAgggtacctgatttataaacc	13	10	11	7	1	0	4	0	1	0	3	0	4	0	4	2	1	3	3	2	1	5	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:55479236A>G	ENST00000342972.1	+	1	699	c.429A>G	c.(427-429)agA>agG	p.R143R		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	143	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						TTGTGCGCAGAGGGTACCTGA	0.532													18	60					0	0	0	0	G	55479236	A	G	55479236	2	3	280	1	0	0	0	0	0	0	0	1	9257	301	11	5		5	MAGEH1	23	55479236	Silent	SNP	A	TCGA-CV-7102-01A-11D-2012-08	23531496	55479236	99791324	144	50323											
MED12	9968	broad.mit.edu	37	chrX	70347742	70347742	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttcctccatccctgcaGcgacttttgctcaaaggtga	7	13	7	14	1	1	1	1	1	0	0	5	2	5	1	4	1	3	2	4	1	1	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:70347742G>T	ENST00000333646.6	+	22	3180		c.e22-1		MED12_ENST00000374080.3_Splice_Site|MED12_ENST00000374102.1_Splice_Site	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12						androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CATCCCTGCAGCGACTTTTGC	0.493			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						11	24					2.80697e-09	5.16913e-09	1	0	T	70347742	G	T	70347742	5	4	280	1	0	0	0	0	0	0	1	0	9497	985	34	4	3067	4	MED12	23	70347742	Splice_Site	SNP	G	TCGA-CV-7102-01A-11D-2012-08	14868506	70347742	84922818	145	50324											
HDAC8	55869	broad.mit.edu	37	chrX	71681889	71681889	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaggatagtgttttccCtaggatgaccccggtcaagt	9	11	11	10	1	2	2	2	1	0	1	3	4	3	4	3	3	0	1	3	3	3	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:71681889C>G	ENST00000373573.3	-	9	1311	c.970G>C	c.(970-972)Ggg>Cgg	p.G324R	HDAC8_ENST00000373589.4_Missense_Mutation_p.G233R|HDAC8_ENST00000429103.2_Missense_Mutation_p.G129R|HDAC8_ENST00000373583.1_Intron	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	324	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	AGTGTTTTCCCTAGGATGACC	0.463													18	101					0	0	0	0	G	71681889	C	G	71681889	3	3	280	1	0	0	0	0	1	0	0	0	7063	681	24	4	175	4	HDAC8	23	71681889	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	1334147	71681889	83588671	146	50325											
XKRX	402415	broad.mit.edu	37	chrX	100183244	100183244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacatcttcctccagagatGaaaccggatccacatttggc	11	10	8	12	1	1	3	0	2	1	1	4	5	4	4	4	2	1	0	4	2	1	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:100183244G>A	ENST00000328526.5	-	1	654	c.89C>T	c.(88-90)tCa>tTa	p.S30L	XKRX_ENST00000468904.1_Missense_Mutation_p.S17L|XKRX_ENST00000372956.2_Missense_Mutation_p.S17L	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	17						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CTCCAGAGATGAAACCGGATC	0.468													67	182					0	0	0	0	A	100183244	G	A	100183244	3	1	280	1	0	0	0	0	1	0	0	0	17535	1294	45	2	1311	2	XKRX	23	100183244	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	28501355	100183244	55087316	147	50326											
H2BFWT	158983	broad.mit.edu	37	chrX	103267902	103267902	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgcggtccaatatgtcatGaaccaaagaatccatgacac	15	8	8	10	1	1	3	1	2	0	1	3	4	3	3	3	1	2	0	3	1	5	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:103267902G>C	ENST00000217926.5	-	1	357	c.331C>G	c.(331-333)Cat>Gat	p.H111D		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	111					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AATATGTCATGAACCAAAGAA	0.637													9	98					0	0	0	0	C	103267902	G	C	103267902	3	2	280	1	0	0	0	0	1	0	0	0	6982	1290	45	2	204	2	H2BFWT	23	103267902	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	3084658	103267902	52002658	148	50327											
H2BFWT	158983	broad.mit.edu	37	chrX	103267977	103267977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctgcttcagcacccggcGgaaataggtggcgaagctgt	10	7	13	11	3	1	0	1	0	0	0	1	2	1	1	2	4	4	3	2	4	4	2			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:103267977G>A	ENST00000217926.5	-	1	282	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	86					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGCACCCGGCGGAAATAGGTG	0.622													11	102					0	0	0	0	A	103267977	G	A	103267977	3	1	280	1	0	0	0	0	1	0	0	0	6982	1116	39	1	279	1	H2BFWT	23	103267977	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	75	103267977	52002583	149	50328											
KIAA1210	57481	broad.mit.edu	37	chrX	118220797	118220797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatcatcctgattggataGgtttgcatgctggttattat	10	16	9	6	0	1	1	1	1	0	0	2	2	2	2	1	3	3	4	1	3	4	5			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:118220797G>T	ENST00000402510.2	-	11	4395	c.4396C>A	c.(4396-4398)Cta>Ata	p.L1466I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1466										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGATTGGATAGGTTTGCATGC	0.433													11	80					6.42651e-13	1.21596e-12	1	0	T	118220797	G	T	118220797	3	4	280	1	0	0	0	0	1	0	0	0	8265	991	35	4	749	4	KIAA1210	23	118220797	Missense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	14952820	118220797	37049763	150	50329											
ENOX2	10495	broad.mit.edu	37	chrX	129799651	129799651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacacgctgatgttcttcCgctgggcttttgtgaagtgg	6	13	12	10	2	1	2	0	2	1	0	2	2	2	2	2	2	0	4	2	2	1	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:129799651C>T	ENST00000338144.3	-	10	1484	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	ENOX2_ENST00000370935.1_Missense_Mutation_p.R327Q|ENOX2_ENST00000370927.1_Missense_Mutation_p.R356Q|ENOX2_ENST00000394363.1_Missense_Mutation_p.R327Q	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	356					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GATGTTCTTCCGCTGGGCTTT	0.483													4	22					0	0	0	0	T	129799651	C	T	129799651	3	4	280	1	0	0	0	0	1	0	0	0	5165	652	23	1	793	1	ENOX2	23	129799651	Missense_Mutation	SNP	C	TCGA-CV-7102-01A-11D-2012-08	11578854	129799651	25470909	151	50330											
OR13H1	347468	broad.mit.edu	37	chrX	130678614	130678614	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattaagctgacctgttcTgataccagcctcaatgaatt	11	13	6	11	0	3	3	2	3	1	0	3	3	3	3	3	0	3	2	3	0	4	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:130678614T>G	ENST00000338616.3	+	1	665	c.567T>G	c.(565-567)tcT>tcG	p.S189S		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TGACCTGTTCTGATACCAGCC	0.463													49	246					0	0	0	0	G	130678614	T	G	130678614	2	3	280	1	0	0	0	0	0	0	0	1	11014	1567	55	5		5	OR13H1	23	130678614	Silent	SNP	T	TCGA-CV-7102-01A-11D-2012-08	878963	130678614	24591946	152	50331											
GPR112	139378	broad.mit.edu	37	chrX	135431895	135431895	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacccattctgacatggctCttatctagtctcccttctgg	6	15	6	14	0	6	1	1	1	5	0	7	1	6	1	2	2	0	1	2	2	2	4			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:135431895C>G	ENST00000394143.1	+	6	6321	c.6030C>G	c.(6028-6030)ctC>ctG	p.L2010L	GPR112_ENST00000287534.4_Silent_p.L1947L|GPR112_ENST00000412101.1_Silent_p.L1805L|GPR112_ENST00000394141.1_Silent_p.L1805L|GPR112_ENST00000370652.1_Silent_p.L2010L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2010					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGACATGGCTCTTATCTAGTC	0.453													19	138					0	0	0	0	G	135431895	C	G	135431895	2	3	280	1	0	0	0	0	0	0	0	1	6678	900	32	2		2	GPR112	23	135431895	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	4753281	135431895	19838665	153	50332											
ZIC3	7547	broad.mit.edu	37	chrX	136649666	136649666	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagctgcgaccggaccttCagcaccatgcatgagctggt	10	7	12	12	2	1	2	1	1	0	1	1	4	1	3	3	2	5	4	3	2	1	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:136649666C>T	ENST00000287538.5	+	1	1366	c.816C>T	c.(814-816)ttC>ttT	p.F272F	ZIC3_ENST00000370606.3_Silent_p.F272F	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	272					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ACCGGACCTTCAGCACCATGC	0.612													9	94					0	0	0	0	T	136649666	C	T	136649666	2	4	280	1	0	0	0	0	0	0	0	1	17775	825	29	2		2	ZIC3	23	136649666	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	1217771	136649666	18620894	154	50333											
UBE2NL	389898	broad.mit.edu	37	chrX	142967283	142967283	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcatcaaagcagaaccAgatgaaagcaacgcccgtta	15	5	9	12	2	1	3	1	1	0	2	1	3	1	3	3	1	4	4	3	1	5	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:142967283A>G	ENST00000370494.1	+	1	111	c.81A>G	c.(79-81)ccA>ccG	p.P27P		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	27							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCAGAACCAGATGAAAGCA	0.512													44	111					0	0	0	0	G	142967283	A	G	142967283	2	3	280	1	0	0	0	0	0	0	0	1	16963	175	7	5		5	UBE2NL	23	142967283	Silent	SNP	A	TCGA-CV-7102-01A-11D-2012-08	6317617	142967283	12303277	155	50334											
CD99L2	83692	broad.mit.edu	37	chrX	149963727	149963727	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccatcatctcgatcatttcGatcatccagggcatcagcca	10	10	7	14	2	5	0	4	0	1	0	8	2	6	0	3	1	1	1	3	1	0	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:149963727G>A	ENST00000370377.3	-	6	499	c.382C>T	c.(382-384)Cga>Tga	p.R128*	CD99L2_ENST00000466436.1_Nonsense_Mutation_p.R79*|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Nonsense_Mutation_p.R56*|CD99L2_ENST00000437787.2_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	128				R -> Q (in Ref. 4; BAG54124).	cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CGATCATTTCGATCATCCAGG	0.448													32	205					0	0	0	0	A	149963727	G	A	149963727	4	1	280	1	0	0	0	0	0	1	0	0	3080	1066	37	1	430	1	CD99L2	23	149963727	Nonsense_Mutation	SNP	G	TCGA-CV-7102-01A-11D-2012-08	6996444	149963727	5306833	156	50335											
MAGEA3	4102	broad.mit.edu	37	chrX	151935346	151935346	+	Frame_Shift_Del	DEL	C	C	-																															tttcaacgagggcccttggaCcccacaggaattcataacat																										TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:151935346delC	ENST00000393902.3	-	3	1388	c.821delG	c.(820-822)gtfs	p.G274fs	MAGEA3_ENST00000370278.3_Frame_Shift_Del_p.G274fs			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	274	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTTGGACCCCACAGGAA	0.532													36	253	---	---	---	---					-	151935346	C	-	151935346	7	5	280	1	0	1	0	1	0	0	0	0	9234	507	18	0	127	0	MAGEA3	23	151935346	Frame_Shift_Del	DEL	C	TCGA-CV-7102-01A-11D-2012-08	1971619	151935346	3335214	157	50336											
FAM3A	60343	broad.mit.edu	37	chrX	153736911	153736911	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggggcaggccacacttgtActtcctggcccgtggcgctg	4	9	14	14	2	0	0	0	0	0	0	1	0	1	0	3	5	1	3	3	5	1	3			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:153736911A>T	ENST00000434658.2	-	4	638	c.169T>A	c.(169-171)Tac>Aac	p.Y57N	FAM3A_ENST00000447601.2_Missense_Mutation_p.Y57N|FAM3A_ENST00000369643.1_Missense_Mutation_p.Y57N|FAM3A_ENST00000393572.1_Missense_Mutation_p.Y19N|FAM3A_ENST00000359889.5_Missense_Mutation_p.Y57N|FAM3A_ENST00000369641.3_Missense_Mutation_p.Y57N	NM_001171134.1	NP_001164605.1	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	57						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCACACTTGTACTTCCTGGCC	0.647													6	11					0	0	0	0	T	153736911	A	T	153736911	3	4	280	1	0	0	0	0	1	0	0	0	5603	391	14	5	547	5	FAM3A	23	153736911	Missense_Mutation	SNP	A	TCGA-CV-7102-01A-11D-2012-08	1801565	153736911	1533649	158	50337											
MPP1	4354	broad.mit.edu	37	chrX	154033634	154033634	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccccactctcgccctcgctCgccttgagggtcatctcgca	4	9	8	20	4	3	1	1	1	2	0	7	1	3	1	4	1	0	2	4	1	0	1			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:154033634C>T	ENST00000369534.3	-	1	162	c.15G>A	c.(13-15)gcG>gcA	p.A5A	MPP1_ENST00000413259.3_5'UTR|MPP1_ENST00000393531.1_Silent_p.A5A	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	5					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGCCCTCGCTCGCCTTGAGGG	0.672													4	25					0	0	0	0	T	154033634	C	T	154033634	2	4	280	1	0	0	0	0	0	0	0	1	9803	871	31	1		1	MPP1	23	154033634	Silent	SNP	C	TCGA-CV-7102-01A-11D-2012-08	296723	154033634	1236926	159	50338											
CASZ1	54897	broad.mit.edu	37	chr1	10714479	10714479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaggctcccgcttacctgCagtggaagtgcgtggtcttc	6	10	12	13	2	1	0	0	0	1	0	3	1	2	1	3	3	3	3	3	3	2	2			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr1:10714479C>T	ENST00000377022.3	-	10	2152	c.1835G>A	c.(1834-1836)tGc>tAc	p.C612Y	CASZ1_ENST00000344008.5_Missense_Mutation_p.C612Y	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCTTACCTGCAGTGGAAGTG	0.652													24	51					0	0	0	0	T	10714479	C	T	10714479	3	4	281	1	0	0	0	0	1	0	0	0	2710	710	25	4	3496	4	CASZ1	1	10714479	Missense_Mutation	SNP	C	TCGA-CV-7103-01A-21D-2012-08		10714479	238536142	1	50339											
RAD54L	8438	broad.mit.edu	37	chr1	46726555	46726556	+	Frame_Shift_Ins	INS	-	-	AC																															agagtgcaagccagaaattgINSacaaggcagtggtggtgtcg																										TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr1:46726555_46726556insAC	ENST00000371975.4	+	7	1308_1309	c.634_635insAC	c.(634-636)caafs	p.Q212fs	RAD54L_ENST00000442598.1_Frame_Shift_Ins_p.Q212fs	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	212	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GCCAGAAATTGACAAGGCAGTG	0.535								Direct reversal of damage;Homologous recombination					30	68	---	---	---	---					AC	46726556	-	AC	46726555	7	5	281	1	0	1	1	0	0	0	0	0	13075	1290	45	0	660	0	RAD54L	1	46726555	Frame_Shift_Ins	INS	-	TCGA-CV-7103-01A-21D-2012-08	36012076	46726555	202524066	2	50340											
SERBP1	26135	broad.mit.edu	37	chr1	67895933	67895933	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcgtcgtcaaataactggtcGaatcggttggtgaccacgca	10	10	11	10	5	1	1	1	1	0	0	5	2	1	1	1	3	1	2	1	3	3	2			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr1:67895933G>C	ENST00000370994.4	-	1	165	c.51C>G	c.(49-51)ttC>ttG	p.F17L	SERBP1_ENST00000370995.2_Missense_Mutation_p.F17L|SERBP1_ENST00000370990.5_Missense_Mutation_p.F17L|SERBP1_ENST00000361219.6_Missense_Mutation_p.F17L	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	17					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						ATAACTGGTCGAATCGGTTGG	0.642													51	42					0	0	0	0	C	67895933	G	C	67895933	3	2	281	1	0	0	0	0	1	0	0	0	14162	1049	37	3	1207	3	SERBP1	1	67895933	Missense_Mutation	SNP	G	TCGA-CV-7103-01A-21D-2012-08	21169378	67895933	181354688	3	50341											
PLEKHO1	51177	broad.mit.edu	37	chr1	150129105	150129105	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggaatcttcccctcacagGcacccaacctgatcttcctg	9	9	6	17	0	3	1	1	1	2	0	5	2	5	2	5	2	1	1	5	2	2	2			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr1:150129105G>T	ENST00000369124.4	+	4	597	c.318_splice	c.e4-1	p.A107_splice	PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Splice_Site_p.A107_splice	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	107	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCTCACAGGCACCCAACCT	0.478													10	64					3.07112e-06	3.98758e-05	1	0	T	150129105	G	T	150129105	5	4	281	1	0	0	0	0	0	0	1	0	12156	1217	42	4	333	4	PLEKHO1	1	150129105	Splice_Site	SNP	G	TCGA-CV-7103-01A-21D-2012-08	82233172	150129105	99121516	4	50342											
PRKD3	23683	broad.mit.edu	37	chr2	37505102	37505102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatggattgtacaaccctCattagcggaatattattgct	11	15	8	7	1	1	1	1	1	0	0	1	3	1	3	1	2	4	2	1	2	6	7			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr2:37505102C>T	ENST00000379066.1	-	9	1965	c.1203G>A	c.(1201-1203)atG>atA	p.M401I	PRKD3_ENST00000234179.2_Missense_Mutation_p.M401I			O94806	KPCD3_HUMAN	protein kinase D3	401					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GTACAACCCTCATTAGCGGAA	0.363													15	99					0	0	0	0	T	37505102	C	T	37505102	3	4	281	1	0	0	0	0	1	0	0	0	12600	826	29	2	1513	2	PRKD3	2	37505102	Missense_Mutation	SNP	C	TCGA-CV-7103-01A-21D-2012-08		37505102	205694271	5	50343											
NXPH2	11249	broad.mit.edu	37	chr2	139429083	139429083	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgtacgccatggggccGggcttgggcaccggagactg	5	7	17	12	4	1	1	0	0	1	1	1	2	1	1	3	5	2	3	3	5	1	2			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr2:139429083G>A	ENST00000272641.3	-	2	310	c.204C>T	c.(202-204)ccC>ccT	p.P68P		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	68	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CCATGGGGCCGGGCTTGGGCA	0.552													52	107					0	0	0	0	A	139429083	G	A	139429083	2	1	281	1	0	0	0	0	0	0	0	1	10862	1103	39	1		1	NXPH2	2	139429083	Silent	SNP	G	TCGA-CV-7103-01A-21D-2012-08	101923981	139429083	103770290	6	50344											
IKZF2	22807	broad.mit.edu	37	chr2	213878609	213878609	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaaaggcaccagagaaatAttgttgtccataataggctc	15	10	8	8	0	1	1	1	0	0	1	3	2	2	1	2	2	0	3	2	2	6	5			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr2:213878609A>C	ENST00000457361.1	-	7	930	c.762T>G	c.(760-762)aaT>aaG	p.N254K	IKZF2_ENST00000451136.2_Missense_Mutation_p.N182K|IKZF2_ENST00000434687.1_Missense_Mutation_p.N254K|IKZF2_ENST00000374319.4_Missense_Mutation_p.N228K|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374327.4_Missense_Mutation_p.N109K|IKZF2_ENST00000342002.2_Missense_Mutation_p.N260K|IKZF2_ENST00000421754.2_Intron	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCAGAGAAATATTGTTGTCCA	0.393													12	61					0	0	0	0	C	213878609	A	C	213878609	3	2	281	1	0	0	0	0	1	0	0	0	7668	446	16	5	826	5	IKZF2	2	213878609	Missense_Mutation	SNP	A	TCGA-CV-7103-01A-21D-2012-08	74449526	213878609	29320764	7	50345											
ATR	545	broad.mit.edu	37	chr3	142176456	142176456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtgattacctcattaaagGctctcgctgatcacgcatca	11	11	8	11	2	4	2	3	2	1	0	5	2	4	2	1	2	1	3	1	2	3	2			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr3:142176456G>T	ENST00000350721.4	-	45	7766	c.7645C>A	c.(7645-7647)Cct>Act	p.P2549T	ATR_ENST00000383101.3_Missense_Mutation_p.P2485T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2549	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTCATTAAAGGCTCTCGCTGA	0.373								Other conserved DNA damage response genes					40	38					1.22674e-20	1.70081e-19	1	0	T	142176456	G	T	142176456	3	4	281	1	0	0	0	0	1	0	0	0	1208	1203	42	4	301	4	ATR	3	142176456	Missense_Mutation	SNP	G	TCGA-CV-7103-01A-21D-2012-08		142176456	55845974	8	50346											
B3GNT5	84002	broad.mit.edu	37	chr3	182987673	182987674	+	Frame_Shift_Ins	INS	-	-	T																															gttttttagcgagcctcatgINStttttttgggaaccaatcga																										TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr3:182987673_182987674insT	ENST00000326505.3	+	2	617_618	c.87_88insT	c.(85-90)atttttfs	p.IF29fs	MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Frame_Shift_Ins_p.IF29fs|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Frame_Shift_Ins_p.IF29fs	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	29					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGAGCCTCATGTTTTTTTGGGA	0.356													7	824	---	---	---	---					T	182987674	-	T	182987673	7	5	281	1	0	1	1	0	0	0	0	0	1264	1377	48	0	89	0	B3GNT5	3	182987673	Frame_Shift_Ins	INS	-	TCGA-CV-7103-01A-21D-2012-08	40811217	182987673	15034757	9	50347											
ALG3	10195	broad.mit.edu	37	chr3	183960340	183960340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgttgggtgctcttggggaAaggctgcgggcccagccaga	6	8	18	9	1	1	1	0	0	1	1	1	2	1	2	2	5	3	3	2	5	1	2			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr3:183960340A>G	ENST00000455059.1	-	9	1613	c.1159T>C	c.(1159-1161)Ttc>Ctc	p.F387L	ALG3_ENST00000397676.3_Missense_Mutation_p.F427L|ALG3_ENST00000418734.2_Missense_Mutation_p.F371L|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.F379L			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	427					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCTTGGGGAAAGGCTGCGGG	0.597													44	154					0	0	0	0	G	183960340	A	G	183960340	3	3	281	1	0	0	0	0	1	0	0	0	520	14	1	5	41	5	ALG3	3	183960340	Missense_Mutation	SNP	A	TCGA-CV-7103-01A-21D-2012-08	972667	183960340	14062090	10	50348											
TMEM41A	90407	broad.mit.edu	37	chr3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A																															aaagtctcaaaaacaataagINSaaaaaaaacaagctgtttct																								rs150885877	byFrequency	TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)tttfs	p.F156fs	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446													7	671	---	---	---	---					A	185212518	-	A	185212517	7	5	281	1	0	1	1	0	0	0	0	0	16258	933	33	0	334	0	TMEM41A	3	185212517	Frame_Shift_Ins	INS	-	TCGA-CV-7103-01A-21D-2012-08	1252177	185212517	12809913	11	50349											
IGF2BP2	10644	broad.mit.edu	37	chr3	185363333	185363333	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctcacttgctgcgctGtgaggcgactccctgagggt	5	9	15	12	2	1	2	1	2	0	0	2	4	2	3	2	3	3	2	2	3	0	1			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr3:185363333G>A	ENST00000382199.2	-	16	1881	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	IGF2BP2_ENST00000346192.3_Nonsense_Mutation_p.Q553*|IGF2BP2_ENST00000457616.2_Nonsense_Mutation_p.Q602*|IGF2BP2_ENST00000421047.2_Nonsense_Mutation_p.Q539*	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	596					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTGCTGCGCTGTGAGGCGACT	0.547													100	46					0	0	0	0	A	185363333	G	A	185363333	4	1	281	1	0	0	0	0	0	1	0	0	7627	1386	48	4	17	4	IGF2BP2	3	185363333	Nonsense_Mutation	SNP	G	TCGA-CV-7103-01A-21D-2012-08	150816	185363333	12659097	12	50350											
PCGF3	10336	broad.mit.edu	37	chr4	755159	755159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggcgaccgtcttgcatctGaagaagttcatcgccaaaaa	13	8	9	11	3	3	2	1	1	2	1	4	3	3	2	2	1	1	2	2	1	4	2			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr4:755159G>A	ENST00000362003.5	+	9	950	c.555G>A	c.(553-555)ctG>ctA	p.L185L	PCGF3_ENST00000470161.2_Silent_p.L185L|PCGF3_ENST00000505655.2_Silent_p.L185L|PCGF3_ENST00000521023.2_Silent_p.L151L	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						TCTTGCATCTGAAGAAGTTCA	0.498													6	67					0	0	0	0	A	755159	G	A	755159	2	1	281	1	0	0	0	0	0	0	0	1	11647	1277	45	2		2	PCGF3	4	755159	Silent	SNP	G	TCGA-CV-7103-01A-21D-2012-08		755159	190399117	13	50351											
GABRA2	2555	broad.mit.edu	37	chr4	46388201	46388201	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttggatgttagccagcAccaacctaaacagataattt	13	12	6	10	0	1	1	0	0	1	1	1	2	1	2	3	1	4	2	3	1	5	6			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr4:46388201A>G	ENST00000507460.1	-	3	409	c.77T>C	c.(76-78)gTg>gCg	p.V26A	GABRA2_ENST00000514090.1_Missense_Mutation_p.V26A|GABRA2_ENST00000510861.1_Missense_Mutation_p.V26A|GABRA2_ENST00000515082.1_Missense_Mutation_p.V26A|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000381620.4_Missense_Mutation_p.V26A|GABRA2_ENST00000507069.1_Missense_Mutation_p.V26A|GABRA2_ENST00000356504.1_Missense_Mutation_p.V26A|GABRA2_ENST00000540012.1_5'UTR			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	26					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTTAGCCAGCACCAACCTAAA	0.343													9	18					0	0	0	0	G	46388201	A	G	46388201	3	3	281	1	0	0	0	0	1	0	0	0	6209	159	6	5	1310	5	GABRA2	4	46388201	Missense_Mutation	SNP	A	TCGA-CV-7103-01A-21D-2012-08	45633042	46388201	144766075	14	50352											
POLR2B	5431	broad.mit.edu	37	chr4	57896547	57896547	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacatatgaatgcaggggCtgccgcaataaaacccaggt	14	7	10	10	1	0	1	0	1	0	0	0	1	0	1	2	3	4	3	2	3	6	3			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr4:57896547C>T	ENST00000381227.1	+	25	3830	c.3417C>T	c.(3415-3417)ggC>ggT	p.G1139G	POLR2B_ENST00000314595.5_Silent_p.G1139G|POLR2B_ENST00000441246.2_Silent_p.G1132G|POLR2B_ENST00000431623.2_Silent_p.G1064G			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1139					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AATGCAGGGGCTGCCGCAATA	0.433													17	20					0	0	0	0	T	57896547	C	T	57896547	2	4	281	1	0	0	0	0	0	0	0	1	12287	784	28	4		4	POLR2B	4	57896547	Silent	SNP	C	TCGA-CV-7103-01A-21D-2012-08	11508346	57896547	133257729	15	50353											
ETFDH	2110	broad.mit.edu	37	chr4	159620266	159620266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacggagccagagctctcaAtgaaggtggctttcaggtaa	12	9	12	8	1	2	2	2	1	1	1	3	3	2	3	1	4	3	3	1	4	4	3			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr4:159620266A>G	ENST00000511912.1	+	9	1432	c.1100A>G	c.(1099-1101)aAt>aGt	p.N367S	ETFDH_ENST00000307738.5_Missense_Mutation_p.N320S	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	367					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		AGAGCTCTCAATGAAGGTGGC	0.378													16	14					0	0	0	0	G	159620266	A	G	159620266	3	3	281	1	0	0	0	0	1	0	0	0	5309	101	4	5	1134	5	ETFDH	4	159620266	Missense_Mutation	SNP	A	TCGA-CV-7103-01A-21D-2012-08	101723719	159620266	31534010	16	50354											
FAT1	2195	broad.mit.edu	37	chr4	187517826	187517826	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgcccgtgcacagactCggggttaaaagtgctgaatt	9	10	13	9	3	0	2	0	1	0	1	2	2	0	2	1	3	3	3	1	3	3	2			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr4:187517826C>A	ENST00000441802.2	-	25	13077	c.12868G>T	c.(12868-12870)Gag>Tag	p.E4290*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4290					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCACAGACTCGGGGTTAAAA	0.557										HNSCC(5;0.00058)			22	12					8.10497e-08	1.06933e-06	1	0	A	187517826	C	A	187517826	4	1	281	1	0	0	0	0	0	1	0	0	5734	893	31	3	910	3	FAT1	4	187517826	Nonsense_Mutation	SNP	C	TCGA-CV-7103-01A-21D-2012-08	27897560	187517826	3636450	17	50355											
ANKH	56172	broad.mit.edu	37	chr5	14716943	14716944	+	Splice_Site	INS	-	-	G																															ccaaaacatcacgaaacagaINSgctggggagaaagacatcaa																										TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr5:14716943_14716944insG	ENST00000284268.6	-	9	1342_1343	c.1011_splice	c.e9-1	p.L338_splice	ANKH_ENST00000535119.1_Splice_Site_p.L140_splice	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	338					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CACGAAACAGAGCTGGGGAGAA	0.455													17	23	---	---	---	---					G	14716944	-	G	14716943	8	5	281	1	0	1	1	0	0	0	1	0	627	318	11	0	481	0	ANKH	5	14716943	Splice_Site	INS	-	TCGA-CV-7103-01A-21D-2012-08		14716943	166198317	18	50356											
EGFLAM	133584	broad.mit.edu	37	chr5	38464067	38464067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgtggatgggaaaaacatCaacacttgtggagccaagta	14	7	12	8	1	1	0	1	0	0	0	1	3	1	3	2	3	3	1	2	3	5	2			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr5:38464067C>G	ENST00000322350.5	+	22	3355	c.3009C>G	c.(3007-3009)atC>atG	p.I1003M	EGFLAM_ENST00000397202.2_Missense_Mutation_p.I369M|EGFLAM_ENST00000336740.6_Missense_Mutation_p.I769M|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000506135.1_Missense_Mutation_p.I146M|EGFLAM_ENST00000354891.3_Missense_Mutation_p.I1011M|EGFLAM_ENST00000397210.3_Missense_Mutation_p.I146M|EGFLAM_ENST00000514476.1_Missense_Mutation_p.I146M	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	1011	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGAAAAACATCAACACTTGTG	0.527													7	94					0	0	0	0	G	38464067	C	G	38464067	3	3	281	1	0	0	0	0	1	0	0	0	5002	816	29	2	3109	2	EGFLAM	5	38464067	Missense_Mutation	SNP	C	TCGA-CV-7103-01A-21D-2012-08	23747124	38464067	142451193	19	50357											
KIF3A	11127	broad.mit.edu	37	chr5	132037805	132037805	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcccgaggtataaagttatCaataataagcatctgaagtc	16	11	7	7	1	2	1	1	1	1	0	4	2	3	1	1	1	1	3	1	1	8	5			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr5:132037805C>G	ENST00000378746.4	-	13	1995	c.1777G>C	c.(1777-1779)Gat>Cat	p.D593H	KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000378735.1_Missense_Mutation_p.D596H|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.D620H	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	593					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAAAGTTATCAATAATAAGC	0.413													26	22					0	0	0	0	G	132037805	C	G	132037805	3	3	281	1	0	0	0	0	1	0	0	0	8351	826	29	2	342	2	KIF3A	5	132037805	Missense_Mutation	SNP	C	TCGA-CV-7103-01A-21D-2012-08	93573738	132037805	48877455	20	50358											
BTNL8	79908	broad.mit.edu	37	chr5	180335857	180335857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaaacattactgtgttGgatgctggcctctatgggtg	8	13	13	7	0	1	0	0	0	1	0	1	2	1	2	1	4	3	2	1	4	4	3			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr5:180335857G>T	ENST00000231229.4	+	2	555	c.321G>T	c.(319-321)ttG>ttT	p.L107F	BTNL8_ENST00000340184.4_Missense_Mutation_p.L107F|BTNL8_ENST00000508408.1_Missense_Mutation_p.L107F|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	107	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTACTGTGTTGGATGCTGGCC	0.473													13	207					1.49906e-05	0.000191598	1	0	T	180335857	G	T	180335857	3	4	281	1	0	0	0	0	1	0	0	0	1576	1339	47	4	353	4	BTNL8	5	180335857	Missense_Mutation	SNP	G	TCGA-CV-7103-01A-21D-2012-08	48298052	180335857	579403	21	50359			1	79		2	2	18	G		3.075211e-05
BTNL8	79908	broad.mit.edu	37	chr5	180335874	180335874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttggatgctggcctctatgGgtgcaggattagttcccagt	6	13	14	8	0	1	0	0	0	1	0	2	2	2	2	2	4	2	4	2	4	2	4			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr5:180335874G>T	ENST00000231229.4	+	2	572	c.338G>T	c.(337-339)gGg>gTg	p.G113V	BTNL8_ENST00000340184.4_Missense_Mutation_p.G113V|BTNL8_ENST00000508408.1_Missense_Mutation_p.G113V|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	113	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCTCTATGGGTGCAGGATT	0.478													12	209					0.000151284	0.00190386	1	0	T	180335874	G	T	180335874	3	4	281	1	0	0	0	0	1	0	0	0	1576	1232	43	4	370	4	BTNL8	5	180335874	Missense_Mutation	SNP	G	TCGA-CV-7103-01A-21D-2012-08	17	180335874	579386	22	50360			1	79		2	2	18	G		3.075211e-05
PHACTR1	221692	broad.mit.edu	37	chr6	13230292	13230292	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggccatgaaggtctgcAggaaggactccttagccatc	9	8	11	13	0	1	1	0	1	1	0	3	3	2	3	4	4	2	1	4	4	3	1			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr6:13230292A>C	ENST00000379350.1	+	9	1387	c.1258A>C	c.(1258-1260)Agg>Cgg	p.R420R	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Silent_p.R420R|PHACTR1_ENST00000457702.2_Silent_p.R275R			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	420						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAAGGTCTGCAGGAAGGACTC	0.547													4	6					0	0	0	0	C	13230292	A	C	13230292	2	2	281	1	0	0	0	0	0	0	0	1	11881	179	7	5		5	PHACTR1	6	13230292	Silent	SNP	A	TCGA-CV-7103-01A-21D-2012-08		13230292	157884775	23	50361											
DOPEY1	23033	broad.mit.edu	37	chr6	83866921	83866941	+	In_Frame_Del	DEL	CGTTTGCCACAGGTGCCAACT	CGTTTGCCACAGGTGCCAACT	-																															agagattggttgagagtctcCgtttgccacaggtgccaact																										TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr6:83866921_83866941delCGTTTGCCACAGGTGCCAACT	ENST00000349129.2	+	35	6885_6905	c.6625_6645delCGTTTGCCACAGGTGCCAACT	c.(6625-6645)del	p.RLPQVPT2209del	DOPEY1_ENST00000369739.3_In_Frame_Del_p.RLPQVPT2200del|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2209					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGAGAGTCTCCGTTTGCCACAGGTGCCAACTCTCCATTCTC	0.389													9	70	---	---	---	---					-	83866941	CGTTTGCCACAGGTGCCAACT	-	83866921	7	5	281	1	0	1	0	1	0	0	0	0	4743	652	23	0	6755	0	DOPEY1	6	83866921	In_Frame_Del	DEL	CGTTTGCCACAGGTGCCAACT	TCGA-CV-7103-01A-21D-2012-08	70636629	83866921	87248146	24	50362											
OGDH	4967	broad.mit.edu	37	chr7	44747333	44747333	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcagccgcgccaagcccgtCtggtaaggcttcagtccctg	7	8	11	15	3	3	0	2	0	1	0	4	0	4	0	4	2	2	2	4	2	2	2	rs1135689		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr7:44747333C>G	ENST00000222673.5	+	22	2991	c.2949C>G	c.(2947-2949)gtC>gtG	p.V983V	OGDH_ENST00000543843.1_Silent_p.V934V|OGDH_ENST00000447398.1_Silent_p.V994V|OGDH_ENST00000444676.1_Silent_p.V998V|OGDH_ENST00000449767.1_Silent_p.V979V|OGDH_ENST00000439616.2_Silent_p.V833V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	983					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCAAGCCCGTCTGGTAAGGCT	0.612													29	52					0	0	0	0	G	44747333	C	G	44747333	2	3	281	1	0	0	0	0	0	0	0	1	10910	900	32	2		2	OGDH	7	44747333	Silent	SNP	C	TCGA-CV-7103-01A-21D-2012-08		44747333	114391330	25	50363											
EGFR	1956	broad.mit.edu	37	chr7	55210002	55210002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggcacgagtaacaagCtcacgcagttgggcactttt	11	8	11	11	2	1	0	1	0	0	0	1	1	1	0	1	2	2	6	1	2	3	4			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr7:55210002C>G	ENST00000275493.2	+	2	289	c.112C>G	c.(112-114)Ctc>Gtc	p.L38V	EGFR_ENST00000442591.1_Missense_Mutation_p.L38V|EGFR_ENST00000342916.3_Missense_Mutation_p.L38V|EGFR_ENST00000344576.2_Missense_Mutation_p.L38V|EGFR_ENST00000455089.1_Missense_Mutation_p.L38V|EGFR_ENST00000454757.2_5'UTR|EGFR_ENST00000420316.2_Missense_Mutation_p.L38V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	38					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGTAACAAGCTCACGCAGTT	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			33	62					0	0	0	0	G	55210002	C	G	55210002	3	3	281	1	0	0	0	0	1	0	0	0	5003	797	28	4	118	4	EGFR	7	55210002	Missense_Mutation	SNP	C	TCGA-CV-7103-01A-21D-2012-08	10462669	55210002	103928661	26	50364											
TEX15	56154	broad.mit.edu	37	chr8	30705568	30705568	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccattccaatgctagatgAtctagttcatccttatcctt	9	16	5	11	0	2	2	1	1	1	1	5	2	5	2	4	0	2	2	4	0	4	6			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr8:30705568A>T	ENST00000256246.2	-	1	1040	c.966T>A	c.(964-966)gaT>gaA	p.D322E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	322										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATGCTAGATGATCTAGTTCAT	0.343													13	29					0	0	0	0	T	30705568	A	T	30705568	3	4	281	1	0	0	0	0	1	0	0	0	15873	330	12	5	7419	5	TEX15	8	30705568	Missense_Mutation	SNP	A	TCGA-CV-7103-01A-21D-2012-08		30705568	115658454	27	50365											
ABO	28	broad.mit.edu	37	chr9	136132874	136132874	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatgtcgatgttgaatGtgccctcccagacaatggga	10	10	13	8	1	0	3	0	2	0	1	2	6	1	5	2	2	1	1	2	2	2	1			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr9:136132874G>A	ENST00000453660.2	-	0	306							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		GATGTTGAATGTGCCCTCCCA	0.557													33	38					0	0	0	0	A	136132874	G	A	136132874	1	1	281	0	1	0	0	0	0	0	0	0	97	1377	48	4		4	ABO	9	136132874	RNA	SNP	G	TCGA-CV-7103-01A-21D-2012-08		136132874	5080557	28	50366											
USP6NL	9712	broad.mit.edu	37	chr10	11505354	11505354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcacgtttgacacccgcaCctcggcaggacctgggacgg	7	5	13	16	5	0	1	0	1	0	0	1	3	0	3	4	4	0	4	4	4	0	1			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr10:11505354C>T	ENST00000379237.1	-	15	1967	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	USP6NL_ENST00000277575.5_Missense_Mutation_p.V542M	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	525						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GACACCCGCACCTCGGCAGGA	0.622													50	131					0	0	0	0	T	11505354	C	T	11505354	3	4	281	1	0	0	0	0	1	0	0	0	17183	507	18	4	917	4	USP6NL	10	11505354	Missense_Mutation	SNP	C	TCGA-CV-7103-01A-21D-2012-08		11505354	124029393	29	50367											
BLNK	29760	broad.mit.edu	37	chr10	97987176	97987176	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacctcacctatatactcGcctctggcgaagggcagggc	8	7	13	13	2	2	0	1	0	1	0	3	2	2	1	3	4	1	1	3	4	4	3			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr10:97987176G>A	ENST00000224337.5	-	5	492	c.351C>T	c.(349-351)ggC>ggT	p.G117G	BLNK_ENST00000371176.2_Silent_p.G117G|BLNK_ENST00000413476.2_Silent_p.G117G|BLNK_ENST00000427367.2_Silent_p.G117G	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	117	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CTATATACTCGCCTCTGGCGA	0.652													35	61					0	0	0	0	A	97987176	G	A	97987176	2	1	281	1	0	0	0	0	0	0	0	1	1452	1074	38	1		1	BLNK	10	97987176	Silent	SNP	G	TCGA-CV-7103-01A-21D-2012-08	86481822	97987176	37547571	30	50368											
NRAP	4892	broad.mit.edu	37	chr10	115391662	115391662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcggccagcagagacatgGcatccagcttcatctcaaat	11	8	10	12	1	2	1	2	0	1	1	4	2	3	1	2	3	2	3	2	3	1	1			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr10:115391662G>A	ENST00000369358.4	-	17	1938	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	NRAP_ENST00000369360.3_Missense_Mutation_p.A530V|NRAP_ENST00000359988.3_Missense_Mutation_p.A565V|NRAP_ENST00000360478.3_Missense_Mutation_p.A530V			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	565						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGAGACATGGCATCCAGCTT	0.448													53	74					0	0	0	0	A	115391662	G	A	115391662	3	1	281	1	0	0	0	0	1	0	0	0	10709	1203	42	4	3602	4	NRAP	10	115391662	Missense_Mutation	SNP	G	TCGA-CV-7103-01A-21D-2012-08	17404486	115391662	20143085	31	50369											
CELF1	10658	broad.mit.edu	37	chr11	47510570	47510570	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagggtgccgttcattttCtttgagctgtgtgagataaa	8	15	11	7	1	2	2	1	2	1	1	3	3	3	2	2	1	2	2	2	1	2	5			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr11:47510570C>T	ENST00000531165.1	-	4	356	c.78G>A	c.(76-78)aaG>aaA	p.K26K	CELF1_ENST00000532048.1_Silent_p.K26K|CELF1_ENST00000310513.5_5'UTR|CELF1_ENST00000395292.2_5'UTR|CELF1_ENST00000361904.3_5'UTR|CELF1_ENST00000395290.2_5'UTR			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	0	RRM 1.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CGTTCATTTTCTTTGAGCTGT	0.403													7	60					0	0	0	0	T	47510570	C	T	47510570	2	4	281	1	0	0	0	0	0	0	0	1	3244	912	32	2		2	CELF1	11	47510570	Silent	SNP	C	TCGA-CV-7103-01A-21D-2012-08		47510570	87495946	32	50370											
PCNXL3	399909	broad.mit.edu	37	chr11	65402557	65402557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttcaccgcgttgtggCgcctggggttcgcatggccc	2	10	14	15	4	1	0	1	0	0	0	2	0	1	0	4	4	1	4	4	4	0	3			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr11:65402557C>T	ENST00000355703.3	+	30	5458	c.4919C>T	c.(4918-4920)gCg>gTg	p.A1640V		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1640						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGCGTTGTGGCGCCTGGGGTT	0.647													10	26					0	0	0	0	T	65402557	C	T	65402557	3	4	281	1	0	0	0	0	1	0	0	0	11664	768	27	1	5037	1	PCNXL3	11	65402557	Missense_Mutation	SNP	C	TCGA-CV-7103-01A-21D-2012-08	17891987	65402557	69603959	33	50371											
HEPACAM	220296	broad.mit.edu	37	chr11	124794765	124794765	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaagagtcggatacggtctcGatagtcaggccgcagggtgc	10	7	15	9	4	2	1	1	0	1	1	4	3	2	2	1	4	2	1	1	4	3	2			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr11:124794765G>C	ENST00000298251.4	-	2	691	c.286C>G	c.(286-288)Cga>Gga	p.R96G		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	96	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		p.R96*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ATACGGTCTCGATAGTCAGGC	0.592													45	74					0	0	0	0	C	124794765	G	C	124794765	3	2	281	1	0	0	0	0	1	0	0	0	7102	1066	37	3	988	3	HEPACAM	11	124794765	Missense_Mutation	SNP	G	TCGA-CV-7103-01A-21D-2012-08	59392208	124794765	10211751	34	50372											
ENO2	2026	broad.mit.edu	37	chr12	7025014	7025014	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatgtccatagagaagatCtgggcccgggagatcctgga	11	8	13	9	1	2	3	1	0	1	3	4	6	4	4	3	3	0	0	3	3	2	1			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr12:7025014C>T	ENST00000535366.1	+	1	644	c.18C>T	c.(16-18)atC>atT	p.I6I	ENO2_ENST00000545045.2_Silent_p.I6I|ENO2_ENST00000229277.1_Silent_p.I6I|ENO2_ENST00000544774.1_Silent_p.I6I|ENO2_ENST00000538763.1_Silent_p.I6I|ENO2_ENST00000541477.1_Silent_p.I6I			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	6					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TAGAGAAGATCTGGGCCCGGG	0.577													64	282					0	0	0	0	T	7025014	C	T	7025014	2	4	281	1	0	0	0	0	0	0	0	1	5160	903	32	2		2	ENO2	12	7025014	Silent	SNP	C	TCGA-CV-7103-01A-21D-2012-08		7025014	126826881	35	50373											
ADCY6	112	broad.mit.edu	37	chr12	49176996	49176996	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgcccttgcctgggccGcccctccggatgaaggcgtc	3	9	12	17	3	0	1	0	1	0	0	3	2	2	2	7	3	2	0	7	3	1	2			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr12:49176996G>A	ENST00000307885.4	-	1	916	c.222C>T	c.(220-222)ggC>ggT	p.G74G	ADCY6_ENST00000357869.3_Silent_p.G74G|ADCY6_ENST00000550422.1_Silent_p.G74G	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	74					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGCCTGGGCCGCCCCTCCGGA	0.721													22	35					0	0	0	0	A	49176996	G	A	49176996	2	1	281	1	0	0	0	0	0	0	0	1	298	1074	38	1		1	ADCY6	12	49176996	Silent	SNP	G	TCGA-CV-7103-01A-21D-2012-08	42151982	49176996	84674899	36	50374											
SARNP	84324	broad.mit.edu	37	chr12	56182870	56182870	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacattacctttctggagaTtgaagagacattcaaaccaa	15	11	6	9	0	2	3	1	1	1	2	2	5	2	3	2	1	3	0	2	1	5	5	rs138765992		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr12:56182870T>C	ENST00000546837.1	-	14	1426	c.1427A>G	c.(1426-1428)aAt>aGt	p.N476S	SARNP_ENST00000444631.2_Missense_Mutation_p.I104V|SARNP_ENST00000552080.1_Missense_Mutation_p.I164V|SARNP_ENST00000336133.3_Missense_Mutation_p.I164V																							TTTCTGGAGATTGAAGAGACA	0.368													30	70					0	0	0	0	C	56182870	T	C	56182870	3	2	281	1	0	0	0	0	1	0	0	0	13929	1493	52	5	154	5	SARNP	12	56182870	Missense_Mutation	SNP	T	TCGA-CV-7103-01A-21D-2012-08	7005874	56182870	77669025	37	50375											
UBE3B	89910	broad.mit.edu	37	chr12	109972570	109972570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgccatcagcatgaacacgGgctttgaactctcctagctc	10	9	8	14	2	2	2	1	2	1	0	4	2	2	2	2	1	4	3	2	1	3	2			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr12:109972570G>T	ENST00000342494.3	+	28	3785	c.3190G>T	c.(3190-3192)Ggc>Tgc	p.G1064C	UBE3B_ENST00000434735.2_Missense_Mutation_p.G1064C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1064	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CATGAACACGGGCTTTGAACT	0.617													5	91					0.000602214	0.00746381	1	0	T	109972570	G	T	109972570	3	4	281	1	0	0	0	0	1	0	0	0	16976	1232	43	4	3292	4	UBE3B	12	109972570	Missense_Mutation	SNP	G	TCGA-CV-7103-01A-21D-2012-08	53789700	109972570	23879325	38	50376											
FREM2	341640	broad.mit.edu	37	chr13	39262438	39262438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagaacactgcacccaaGcccagtttcgtggccatgat	10	7	10	14	2	0	2	0	1	0	1	1	3	0	2	4	1	3	2	4	1	2	1			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr13:39262438G>A	ENST00000280481.7	+	1	1173	c.957G>A	c.(955-957)aaG>aaA	p.K319K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	319					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGCACCCAAGCCCAGTTTCG	0.607													20	22					0	0	0	0	A	39262438	G	A	39262438	2	1	281	1	0	0	0	0	0	0	0	1	6093	962	34	4		4	FREM2	13	39262438	Silent	SNP	G	TCGA-CV-7103-01A-21D-2012-08		39262438	75907440	39	50377											
PRSS22	64063	broad.mit.edu	37	chr16	2905603	2905603	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgctcccccagcctgaGatccagcagtgggtgtttgg	6	10	14	11	0	0	1	0	1	0	1	2	3	2	2	4	3	3	3	4	3	0	1			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr16:2905603G>T	ENST00000161006.3	-	4	596	c.531C>A	c.(529-531)atC>atA	p.I177I	PRSS22_ENST00000571228.1_Intron	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	177	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CCCAGCCTGAGATCCAGCAGT	0.602													14	48					2.61681e-11	3.56759e-10	1	0	T	2905603	G	T	2905603	2	4	281	1	0	0	0	0	0	0	0	1	12698	932	33	2		2	PRSS22	16	2905603	Silent	SNP	G	TCGA-CV-7103-01A-21D-2012-08		2905603	87449150	40	50378											
TP53	7157	broad.mit.edu	37	chr17	7578471	7578478	+	Frame_Shift_Del	DEL	GGGCGGGG	GGGCGGGG	-																															atggcgcggacgcgggtgccGggcgggggtgtggaatcaac																								rs137852790		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr17:7578471_7578478delGGGCGGGG	ENST00000420246.2	-	5	584_591	c.452_459delCCCCGCCC	c.(451-459)cfs	p.PPP151fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PPP151fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(66)|p.P151H(31)|p.P152S(22)|p.P151P(12)|p.P153fs*28(11)|p.P151R(9)|p.P152R(8)|p.P153S(8)|p.0?(8)|p.P152T(7)|p.P151L(7)|p.P152fs*18(7)|p.P153P(7)|p.T150fs*16(6)|p.P153L(6)|p.P152fs*29(5)|p.P152P(5)|p.?(5)|p.P152fs*14(5)|p.P152Q(4)|p.P153T(3)|p.G154fs*27(3)|p.P59L(2)|p.G154fs*16(2)|p.P58H(2)|p.P152fs*28(2)|p.P20L(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.P152A(2)|p.P19H(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.T150_P153delTPPP(1)|p.P58R(1)|p.P151del(1)|p.P152fs*27(1)|p.P20R(1)|p.P59R(1)|p.P151fs*30(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P19R(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.T150_P151delTP(1)|p.P153H(1)|p.P152_P153del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCGGGTGCCGGGCGGGGGTGTGGAATC	0.606		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	30	---	---	---	---					-	7578478	GGGCGGGG	-	7578471	7	5	281	1	0	1	0	1	0	0	0	0	16476	1103	39	0	839	0	TP53	17	7578471	Frame_Shift_Del	DEL	GGGCGGGG	TCGA-CV-7103-01A-21D-2012-08		7578471	73616739	41	50379											
STAC2	342667	broad.mit.edu	37	chr17	37371437	37371437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcagtgccagggaggtGccatagcgcagggtctcgta	8	9	14	10	2	3	0	2	0	1	0	4	1	3	1	2	3	3	2	2	3	2	3			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr17:37371437G>A	ENST00000333461.5	-	5	1002	c.633C>T	c.(631-633)ggC>ggT	p.G211G		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	211					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCAGGGAGGTGCCATAGCGCA	0.592													32	59					0	0	0	0	A	37371437	G	A	37371437	2	1	281	1	0	0	0	0	0	0	0	1	15330	1306	46	4		4	STAC2	17	37371437	Silent	SNP	G	TCGA-CV-7103-01A-21D-2012-08	29792966	37371437	43823773	42	50380											
LIPG	9388	broad.mit.edu	37	chr18	47101893	47101893	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgggccacattgacatctaCcccaatgggggtgacttcca	9	9	11	12	0	1	2	0	2	1	0	2	2	2	2	4	3	1	0	4	3	2	3			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr18:47101893C>T	ENST00000261292.4	+	5	1004	c.726C>T	c.(724-726)taC>taT	p.Y242Y	LIPG_ENST00000577628.1_Silent_p.Y278Y|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000580036.1_Silent_p.Y242Y	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	242					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TTGACATCTACCCCAATGGGG	0.507													8	85					0	0	0	0	T	47101893	C	T	47101893	2	4	281	1	0	0	0	0	0	0	0	1	8878	518	18	4		4	LIPG	18	47101893	Silent	SNP	C	TCGA-CV-7103-01A-21D-2012-08		47101893	30975355	43	50381											
RPL36	25873	broad.mit.edu	37	chr19	5691333	5691333	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccctttcccccctagcgtCtgaccaaacacaccaagttc	9	8	5	19	1	1	1	0	1	1	0	3	1	2	1	7	0	2	1	7	0	3	3			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:5691333C>G	ENST00000577222.1	+	5	641	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	RPL36_ENST00000394580.2_Missense_Mutation_p.L33V|RPL36_ENST00000579649.1_Missense_Mutation_p.L33V|RPL36_ENST00000579446.1_Missense_Mutation_p.L33V|RPL36_ENST00000347512.3_Missense_Mutation_p.L33V			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	33					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome			breast(1)|upper_aerodigestive_tract(1)	2						CCCCTAGCGTCTGACCAAACA	0.602											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	68					0	0	0	0	G	5691333	C	G	5691333	3	3	281	1	0	0	0	0	1	0	0	0	13671	912	32	2	103	2	RPL36	19	5691333	Missense_Mutation	SNP	C	TCGA-CV-7103-01A-21D-2012-08		5691333	53437650	44	50382											
MUC16	94025	broad.mit.edu	37	chr19	9074800	9074800	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcaaattgggaggtaaacTtgtgccaggttccaagctta	11	11	11	8	0	1	0	1	0	0	0	2	1	2	1	2	3	3	4	2	3	5	5			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:9074800T>G	ENST00000397910.4	-	3	12849	c.12646A>C	c.(12646-12648)Agt>Cgt	p.S4216R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4218	Ser-rich.|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						GGAGGTAAACTTGTGCCAGGT	0.498													11	62					0	0	0	0	G	9074800	T	G	9074800	3	3	281	1	0	0	0	0	1	0	0	0	10043	1609	56	5	31205	5	MUC16	19	9074800	Missense_Mutation	SNP	T	TCGA-CV-7103-01A-21D-2012-08	3383467	9074800	50054183	45	50383											
COL5A3	50509	broad.mit.edu	37	chr19	10077031	10077031	+	Missense_Mutation	SNP	C	C	T																															atagaggcaggtctctcctcCcgccgtgaagttgcaaaaaa																										TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:10077031C>T	ENST00000264828.3	-	64	4826	c.4741G>A	c.(4741-4743)Gga>Aga	p.G1581R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1581	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GTCTCTCCTCCCGCCGTGAAG	0.602													19	26					0	0	0	0	T	10077031	C	T	10077031	3	4	281	1	0	0	0	0	1	0	0	0	3728	632	22	4	512	4	COL5A3	19	10077031	Missense_Mutation	SNP	C	TCGA-CV-7103-01A-21D-2012-08	1002231	10077031	49051952	46	50384	397	2									
COL5A3	50509	broad.mit.edu	37	chr19	10077032	10077032	+	Silent	SNP	C	C	T																															tagaggcaggtctctcctccCgccgtgaagttgcaaaaaac																										TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:10077032C>T	ENST00000264828.3	-	64	4825	c.4740G>A	c.(4738-4740)gcG>gcA	p.A1580A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1580	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTCTCCTCCCGCCGTGAAGT	0.602													19	24					0	0	0	0	T	10077032	C	T	10077032	2	4	281	1	0	0	0	0	0	0	0	1	3728	639	23	1		1	COL5A3	19	10077032	Silent	SNP	C	TCGA-CV-7103-01A-21D-2012-08	1	10077032	49051951	47	50385	397	2									
NWD1	284434	broad.mit.edu	37	chr19	16902349	16902349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcaacatatgtccagcatCaaagaagaaacacctacctg	18	6	6	11	0	1	2	1	0	0	2	2	2	2	2	3	0	5	2	3	0	7	2			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:16902349C>G	ENST00000524140.2	+	14	3547	c.3129C>G	c.(3127-3129)atC>atG	p.I1043M	NWD1_ENST00000379808.3_Missense_Mutation_p.I1043M|NWD1_ENST00000339803.6_Missense_Mutation_p.I908M|NWD1_ENST00000552788.1_Missense_Mutation_p.I1043M|NWD1_ENST00000549814.1_Missense_Mutation_p.I1043M|NWD1_ENST00000523826.1_Missense_Mutation_p.I837M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1043							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTCCAGCATCAAAGAAGAAA	0.517													34	69					0	0	0	0	G	16902349	C	G	16902349	3	3	281	1	0	0	0	0	1	0	0	0	10852	816	29	2	2762	2	NWD1	19	16902349	Missense_Mutation	SNP	C	TCGA-CV-7103-01A-21D-2012-08	6825317	16902349	42226634	48	50386											
ZNF737	100129842	broad.mit.edu	37	chr19	20728546	20728546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttgaatttgaaaatttatGaatgactttcacatatttat	14	19	5	3	0	1	4	1	4	0	0	1	4	1	4	0	0	0	1	0	0	7	8			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:20728546G>C	ENST00000427401.4	-	4	557	c.463C>G	c.(463-465)Cat>Gat	p.H155D		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	155					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GAAAATTTATGAATGACTTTC	0.308													17	29					0	0	0	0	C	20728546	G	C	20728546	3	2	281	1	0	0	0	0	1	0	0	0	18220	1290	45	2	1151	2	ZNF737	19	20728546	Missense_Mutation	SNP	G	TCGA-CV-7103-01A-21D-2012-08	3826197	20728546	38400437	49	50387											
ZNF383	163087	broad.mit.edu	37	chr19	37733547	37733547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgggatatccaaatgggCattttagtcaagaaatattc	15	12	8	6	0	1	1	1	0	0	1	3	2	2	2	1	2	1	1	1	2	7	5			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:37733547C>G	ENST00000589413.1	+	8	992	c.409C>G	c.(409-411)Cat>Gat	p.H137D	ZNF383_ENST00000590503.1_Missense_Mutation_p.H137D|ZNF383_ENST00000352998.3_Missense_Mutation_p.H137D			Q8NA42	ZN383_HUMAN	zinc finger protein 383	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCAAATGGGCATTTTAGTCA	0.373													49	109					0	0	0	0	G	37733547	C	G	37733547	3	3	281	1	0	0	0	0	1	0	0	0	17969	710	25	4	423	4	ZNF383	19	37733547	Missense_Mutation	SNP	C	TCGA-CV-7103-01A-21D-2012-08	17005001	37733547	21395436	50	50388											
AKT2	208	broad.mit.edu	37	chr19	40740869	40740869	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggggccttcgagggccCtccttgagaagtgagttaag	8	8	16	9	2	0	2	0	2	0	1	2	4	1	2	3	3	1	1	3	3	2	3			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:40740869C>A	ENST00000579047.1	-	12	1564	c.1263G>T	c.(1261-1263)gaG>gaT	p.E421D	AKT2_ENST00000392038.2_Intron|AKT2_ENST00000424901.1_Intron|AKT2_ENST00000311278.6_Intron			P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	113	AGC-kinase C-terminal.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TTCGAGGGCCCTCCTTGAGAA	0.632			A		"ovarian, pancreatic "								7	17					2.7689e-08	3.71304e-07	1	0	A	40740869	C	A	40740869	3	1	281	1	0	0	0	0	1	0	0	0	480	696	24	4		4	AKT2	19	40740869	Missense_Mutation	SNP	C	TCGA-CV-7103-01A-21D-2012-08	3007322	40740869	18388114	51	50389											
LILRB5	10990	broad.mit.edu	37	chr19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtggtgggggtggggAggcctgggggcctggagagg	5	5	26	5	1	0	1	0	0	0	1	0	4	0	3	2	11	1	0	2	11	1	0			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607													4	46					0	0	0	0	G	54754843	A	G	54754843	3	3	281	1	0	0	0	0	1	0	0	0	8848	319	11	5		5	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-CV-7103-01A-21D-2012-08	14013974	54754843	4374140	52	50390											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56732960	56732960	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatcactgagaagtagctTctggatgtgttttctggtgg	8	14	13	6	0	3	1	1	1	2	1	3	3	3	2	0	3	1	4	0	3	3	4			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:56732960T>G	ENST00000587340.1	-	7	2170	c.1475A>C	c.(1474-1476)gAa>gCa	p.E492A	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E375A|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E491A|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E346A|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E492A			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	492					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGAAGTAGCTTCTGGATGTGT	0.433													30	50					0	0	0	0	G	56732960	T	G	56732960	3	3	281	1	0	0	0	0	1	0	0	0	18329	1783	62	5	19	5	ZSCAN5A	19	56732960	Missense_Mutation	SNP	T	TCGA-CV-7103-01A-21D-2012-08	1978117	56732960	2396023	53	50391											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343													4	89					0	0	0	0	C	11058353	T	C	11058353	1	2	281	0	1	0	0	0	0	0	0	0	1296	1769	61	5		5	BAGE2	21	11058353	RNA	SNP	T	TCGA-CV-7103-01A-21D-2012-08		11058353	37071542	54	50392											
ARMCX2	9823	broad.mit.edu	37	chrX	100911661	100911661	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcccatccccagttcgTctacttcaactttgcttttc	7	14	6	14	1	2	0	1	0	1	0	5	1	3	1	3	1	4	2	3	1	3	6			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chrX:100911661T>C	ENST00000328766.5	-	5	1367	c.914A>G	c.(913-915)gAc>gGc	p.D305G	ARMCX2_ENST00000356824.4_Missense_Mutation_p.D305G|ARMCX2_ENST00000330154.2_Missense_Mutation_p.D305G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	305						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCCCAGTTCGTCTACTTCAAC	0.587													64	27					0	0	0	0	C	100911661	T	C	100911661	3	2	281	1	0	0	0	0	1	0	0	0	964	1667	58	5	988	5	ARMCX2	23	100911661	Missense_Mutation	SNP	T	TCGA-CV-7103-01A-21D-2012-08		100911661	54358899	55	50393											
ZNF449	203523	broad.mit.edu	37	chrX	134483238	134483238	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagaactttctggacccTggtaaggcaagggtttctct	8	13	11	9	0	3	1	1	0	2	1	4	2	3	2	1	4	1	3	1	4	3	3			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chrX:134483238T>G	ENST00000339249.4	+	3	698	c.559_splice	c.e3+1	p.P186_splice		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	186					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGGACCCTGGTAAGGCAA	0.512													16	39					0	0	0	0	G	134483238	T	G	134483238	5	3	281	1	0	0	0	0	0	0	1	0	18015	1594	55	5	564	5	ZNF449	23	134483238	Splice_Site	SNP	T	TCGA-CV-7103-01A-21D-2012-08	33571577	134483238	20787322	56	50394											
OPN1LW	5956	broad.mit.edu	37	chrX	153420103	153420103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagacgtgttcagcggcagCtcgtaccccggggtgcagtc	6	7	14	14	4	1	1	1	0	0	1	3	1	1	1	3	3	4	5	3	3	1	2			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chrX:153420103C>A	ENST00000369951.4	+	4	693	c.633C>A	c.(631-633)agC>agA	p.S211R	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	211					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGCGGCAGCTCGTACCCCG	0.607													45	16					2.69953e-25	3.80727e-24	1	0	A	153420103	C	A	153420103	3	1	281	1	0	0	0	0	1	0	0	0	10948	796	28	4	647	4	OPN1LW	23	153420103	Missense_Mutation	SNP	C	TCGA-CV-7103-01A-21D-2012-08	18936865	153420103	1850457	57	50395											
CLSTN1	22883	broad.mit.edu	37	chr1	9804038	9804038	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccggcacccgtggacataGagggagtagtggtgccgatt	9	7	16	9	3	0	1	0	0	0	1	0	4	0	3	3	4	2	2	3	4	2	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:9804038G>C	ENST00000377298.4	-	9	2052	c.1260C>G	c.(1258-1260)ctC>ctG	p.L420L	CLSTN1_ENST00000361311.4_Silent_p.L410L|CLSTN1_ENST00000377288.3_Silent_p.L420L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	420					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGGACATAGAGGGAGTAGT	0.458													34	72					0	0	0	0	C	9804038	G	C	9804038	2	2	282	1	0	0	0	0	0	0	0	1	3591	929	33	2		2	CLSTN1	1	9804038	Silent	SNP	G	TCGA-CV-7104-01A-11D-2012-08		9804038	239446583	1	50396											
EPHA2	1969	broad.mit.edu	37	chr1	16475417	16475418	+	Frame_Shift_Ins	INS	-	-	CGCT																															acttgagctcaatgaagataINScgctcagcctctcctcggta																										TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:16475417_16475418insCGCT	ENST00000358432.5	-	3	432_433	c.278_279insAGCG	c.(277-279)catfs	p.H93fs	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	93					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CAATGAAGATACGCTCAGCCTC	0.545													37	54	---	---	---	---					CGCT	16475418	-	CGCT	16475417	7	5	282	1	0	1	1	0	0	0	0	0	5205	378	14	0	2711	0	EPHA2	1	16475417	Frame_Shift_Ins	INS	-	TCGA-CV-7104-01A-11D-2012-08	6671379	16475417	232775204	2	50397											
KIAA1522	57648	broad.mit.edu	37	chr1	33237578	33237578	+	Frame_Shift_Del	DEL	C	C	-																															ctcctcagggctccatgctgCggtccgactcaaggcctgca																										TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:33237578delC	ENST00000401073.2	+	6	2868	c.2798delC	c.(2797-2799)ggfs	p.A933fs	KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.A885fs|KIAA1522_ENST00000373480.1_Frame_Shift_Del_p.A874fs|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	874	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTCCATGCTGCGGTCCGACTC	0.706													8	21	---	---	---	---					-	33237578	C	-	33237578	7	5	282	1	0	1	0	1	0	0	0	0	8289	768	27	0	2820	0	KIAA1522	1	33237578	Frame_Shift_Del	DEL	C	TCGA-CV-7104-01A-11D-2012-08	16762161	33237578	216013043	3	50398											
ZMYM1	79830	broad.mit.edu	37	chr1	35578796	35578798	+	In_Frame_Del	DEL	TAT	TAT	-																															gttaaaggtaaatcacgaagTattaaaaaatcttgttgtgc																										TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:35578796_35578798delTAT	ENST00000373330.1	+	11	1539_1541	c.1365_1367delTAT	c.(1363-1368)agt>ag	p.SI455del	ZMYM1_ENST00000359858.4_In_Frame_Del_p.SI455del|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	455						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATCACGAAGTATTAAAAAATCT	0.3													19	31	---	---	---	---					-	35578798	TAT	-	35578796	7	5	282	1	0	1	0	1	0	0	0	0	17794	1635	57	0	1399	0	ZMYM1	1	35578796	In_Frame_Del	DEL	TAT	TCGA-CV-7104-01A-11D-2012-08	2341218	35578796	213671825	4	50399											
CAP1	10487	broad.mit.edu	37	chr1	40525048	40525048	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaaaatctggtagaaagAttggagagggcagtgggccg	13	7	16	5	1	1	3	0	0	1	3	1	4	1	3	1	4	1	3	1	4	4	2			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:40525048A>T	ENST00000372797.3	+	2	591	c.30A>T	c.(28-30)agA>agT	p.R10S	CAP1_ENST00000372805.3_Missense_Mutation_p.R10S|CAP1_ENST00000372792.2_Missense_Mutation_p.R10S|CAP1_ENST00000372798.1_Missense_Mutation_p.R10S|CAP1_ENST00000372802.1_Missense_Mutation_p.R10S|CAP1_ENST00000340450.3_Missense_Mutation_p.R10S	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	10					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGTAGAAAGATTGGAGAGGG	0.453													27	69					0	0	0	0	T	40525048	A	T	40525048	3	4	282	1	0	0	0	0	1	0	0	0	2644	330	12	5	32	5	CAP1	1	40525048	Missense_Mutation	SNP	A	TCGA-CV-7104-01A-11D-2012-08	4946252	40525048	208725573	5	50400											
RLF	6018	broad.mit.edu	37	chr1	40661333	40661333	+	Silent	SNP	G	G	A																															gatgcattattggaatttggGaataataacctacaaatatt																										TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:40661333G>A	ENST00000372771.4	+	4	531	c.504G>A	c.(502-504)ggG>ggA	p.G168G		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	168					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGGAATTTGGGAATAATAACC	0.358													11	29					0	0	0	0	A	40661333	G	A	40661333	2	1	282	1	0	0	0	0	0	0	0	1	13474	1161	41	2		2	RLF	1	40661333	Silent	SNP	G	TCGA-CV-7104-01A-11D-2012-08	136285	40661333	208589288	6	50401	398	2									
RLF	6018	broad.mit.edu	37	chr1	40661334	40661334	+	Missense_Mutation	SNP	A	A	T																															atgcattattggaatttgggAataataacctacaaatattg																										TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:40661334A>T	ENST00000372771.4	+	4	532	c.505A>T	c.(505-507)Aat>Tat	p.N169Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	169					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGAATTTGGGAATAATAACCT	0.353													11	28					0	0	0	0	T	40661334	A	T	40661334	3	4	282	1	0	0	0	0	1	0	0	0	13474	246	9	5	519	5	RLF	1	40661334	Missense_Mutation	SNP	A	TCGA-CV-7104-01A-11D-2012-08	1	40661334	208589287	7	50402	398	2									
POMGNT1	55624	broad.mit.edu	37	chr1	46658985	46658985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatgcagtacctgagacaCgcgggcattcttgatgctga	9	10	11	11	2	1	3	0	3	1	1	1	4	1	3	2	1	3	4	2	1	2	4			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:46658985C>T	ENST00000371992.1	-	12	1752	c.1102G>A	c.(1102-1104)Gtg>Atg	p.V368M	POMGNT1_ENST00000535522.1_Missense_Mutation_p.V346M|POMGNT1_ENST00000371984.3_Missense_Mutation_p.V368M|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371986.3_Missense_Mutation_p.V368M	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	368					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACCTGAGACACGCGGGCATTC	0.587													13	23					0	0	0	0	T	46658985	C	T	46658985	3	4	282	1	0	0	0	0	1	0	0	0	12315	536	19	1	924	1	POMGNT1	1	46658985	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	5997651	46658985	202591636	8	50403											
AK5	26289	broad.mit.edu	37	chr1	77984359	77984359	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaactggcatcagaatctGaaagaagcaaattgatcaga	18	7	10	6	0	3	5	2	2	1	3	3	6	3	6	0	2	2	2	0	2	5	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:77984359G>T	ENST00000344720.5	+	11	2206	c.1180G>T	c.(1180-1182)Gaa>Taa	p.E394*	AK5_ENST00000354567.2_Nonsense_Mutation_p.E420*	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	420					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATCAGAATCTGAAAGAAGCAA	0.488													19	49					1.56452e-12	8.55599e-12	1	0	T	77984359	G	T	77984359	4	4	282	1	0	0	0	0	0	1	0	0	443	1291	45	2	1300	2	AK5	1	77984359	Nonsense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	31325374	77984359	171266262	9	50404											
CSDE1	7812	broad.mit.edu	37	chr1	115267850	115267850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaatttattacctgagtgtGttttgttcactttttctgca	8	20	6	7	0	2	1	1	1	1	0	2	1	2	1	1	0	2	3	1	0	3	8			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:115267850G>A	ENST00000438362.2	-	15	2261	c.1883C>T	c.(1882-1884)aCa>aTa	p.T628I	CSDE1_ENST00000530886.1_Missense_Mutation_p.T452I|CSDE1_ENST00000339438.6_Missense_Mutation_p.T551I|CSDE1_ENST00000261443.5_Missense_Mutation_p.T551I|CSDE1_ENST00000534699.1_Missense_Mutation_p.T582I|CSDE1_ENST00000358528.4_Missense_Mutation_p.T582I|CSDE1_ENST00000369530.1_Missense_Mutation_p.T597I	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	582	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		ACCTGAGTGTGTTTTGTTCAC	0.423													44	121					0	0	0	0	A	115267850	G	A	115267850	3	1	282	1	0	0	0	0	1	0	0	0	3961	1377	48	4	675	4	CSDE1	1	115267850	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	37283491	115267850	133982771	10	50405											
S100A11	6282	broad.mit.edu	37	chr1	152005278	152005278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcatcatgcggtcaaGgacaccagggtccttctggt	7	13	10	11	1	5	0	3	0	2	0	6	1	6	1	2	4	1	0	2	4	1	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:152005278G>A	ENST00000271638.2	-	3	297	c.178C>T	c.(178-180)Ctt>Ttt	p.L60F	NBPF18P_ENST00000432386.1_RNA|S100A11_ENST00000478109.1_5'UTR	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	60	EF-hand 2.				negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATGCGGTCAAGGACACCAGGG	0.408													10	54					0	0	0	0	A	152005278	G	A	152005278	3	1	282	1	0	0	0	0	1	0	0	0	13858	1000	35	4	143	4	S100A11	1	152005278	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	36737428	152005278	97245343	11	50406											
DENND4B	9909	broad.mit.edu	37	chr1	153905172	153905172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagcaaggcagagccttcgGtcactgagcacagggccagg	11	4	15	11	1	1	3	1	1	0	2	2	3	1	3	2	4	3	3	2	4	1	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:153905172G>A	ENST00000361217.4	-	23	4123	c.3705C>T	c.(3703-3705)gaC>gaT	p.D1235D	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1235										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGAGCCTTCGGTCACTGAGCA	0.627													22	62					0	0	0	0	A	153905172	G	A	153905172	2	1	282	1	0	0	0	0	0	0	0	1	4471	1252	44	4		4	DENND4B	1	153905172	Silent	SNP	G	TCGA-CV-7104-01A-11D-2012-08	1899894	153905172	95345449	12	50407											
BLZF1	8548	broad.mit.edu	37	chr1	169345895	169345895	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcatcatagtcttcagaGtccatggaagaaagcagttc	15	9	9	8	0	3	2	2	0	1	2	5	3	4	3	1	1	2	3	1	1	4	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:169345895G>C	ENST00000367808.3	+	3	569	c.146G>C	c.(145-147)aGt>aCt	p.S49T	BLZF1_ENST00000367807.3_Missense_Mutation_p.S49T|BLZF1_ENST00000329281.2_Missense_Mutation_p.S49T			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	49					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					AGTCTTCAGAGTCCATGGAAG	0.438													15	54					0	0	0	0	C	169345895	G	C	169345895	3	2	282	1	0	0	0	0	1	0	0	0	1458	1029	36	4	152	4	BLZF1	1	169345895	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	15440723	169345895	79904726	13	50408											
PIGC	5279	broad.mit.edu	37	chr1	172411603	172411603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggatcaccacactggactCaaataccacagcccaatatt	14	8	5	14	0	2	0	2	0	0	0	2	2	2	2	3	2	2	0	3	2	4	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:172411603C>T	ENST00000367728.1	-	1	1623	c.160G>A	c.(160-162)Gag>Aag	p.E54K	PIGC_ENST00000258324.1_Missense_Mutation_p.E54K|PIGC_ENST00000344529.4_Missense_Mutation_p.E54K|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000484368.1_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	54					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						ACACTGGACTCAAATACCACA	0.498													32	109					0	0	0	0	T	172411603	C	T	172411603	3	4	282	1	0	0	0	0	1	0	0	0	11958	835	29	2	737	2	PIGC	1	172411603	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	3065708	172411603	76839018	14	50409											
USH2A	7399	broad.mit.edu	37	chr1	216462695	216462695	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtttgcaaacatctatggccGaaggatctgcaccaacttgt	11	11	9	10	1	2	0	0	0	2	0	2	2	2	1	2	2	4	3	2	2	4	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:216462695G>C	ENST00000366943.2	-	11	2284	c.1898C>G	c.(1897-1899)tCg>tGg	p.S633W	USH2A_ENST00000366942.3_Missense_Mutation_p.S633W|USH2A_ENST00000307340.3_Missense_Mutation_p.S633W			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	633	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCTATGGCCGAAGGATCTGC	0.408										HNSCC(13;0.011)			17	54					0	0	0	0	C	216462695	G	C	216462695	3	2	282	1	0	0	0	0	1	0	0	0	17132	1059	37	3	13972	3	USH2A	1	216462695	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	44051092	216462695	32787926	15	50410											
FMN2	56776	broad.mit.edu	37	chr1	240492663	240492663	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttatgaactgtcactaatCcccaacttttcagagcgagt	11	13	6	11	1	2	2	2	1	0	1	3	3	3	2	2	0	3	0	2	0	4	5			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:240492663C>A	ENST00000319653.9	+	10	4562	c.4332C>A	c.(4330-4332)atC>atA	p.I1444I	FMN2_ENST00000545751.1_Silent_p.I40I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1444	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGTCACTAATCCCCAACTTTT	0.358													16	64					1.3612e-06	7.00619e-06	1	0	A	240492663	C	A	240492663	2	1	282	1	0	0	0	0	0	0	0	1	5995	845	30	2		2	FMN2	1	240492663	Silent	SNP	C	TCGA-CV-7104-01A-11D-2012-08	24029968	240492663	8757958	16	50411											
FOSL2	2355	broad.mit.edu	37	chr2	28634924	28634925	+	Frame_Shift_Ins	INS	-	-	GC																															tgcaagattagccccgaggaINSgcgccgatcgcccccagccc																										TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:28634924_28634925insGC	ENST00000264716.4	+	4	1453_1454	c.590_591insGC	c.(589-591)gcgfs	p.A197fs	FOSL2_ENST00000379619.1_Frame_Shift_Ins_p.A189fs|FOSL2_ENST00000545753.1_Frame_Shift_Ins_p.A158fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	197					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGCCCCGAGGAGCGCCGATCGC	0.639													29	70	---	---	---	---					GC	28634925	-	GC	28634924	7	5	282	1	0	1	1	0	0	0	0	0	6033	304	11	0	604	0	FOSL2	2	28634924	Frame_Shift_Ins	INS	-	TCGA-CV-7104-01A-11D-2012-08		28634924	214564449	17	50412											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459965	107459965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagccccctcccgtgggcCtggctccccgggggaaggga	7	4	15	15	2	0	0	0	0	0	0	2	2	2	2	6	5	1	1	6	5	3	0			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:107459965C>T	ENST00000409382.3	-	2	1079	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G157S|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G157S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	157					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						TCCCGTGGGCCTGGCTCCCCG	0.632													52	129					0	0	0	0	T	107459965	C	T	107459965	3	4	282	1	0	0	0	0	1	0	0	0	15312	681	24	4	1227	4	ST6GAL2	2	107459965	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	78825041	107459965	135739408	18	50413											
KCNJ3	3760	broad.mit.edu	37	chr2	155711297	155711297	+	Frame_Shift_Del	DEL	T	T	-																															gaagttctttggggtcatcgTttttttcctgtaatttcctt																										TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:155711297delT	ENST00000295101.2	+	3	1455	c.978delT	c.(976-978)cgfs	p.R326fs	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	326					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GGGGTCATCGTTTTTTTCCTG	0.383													20	57	---	---	---	---					-	155711297	T	-	155711297	7	5	282	1	0	1	0	1	0	0	0	0	8105	1712	60	0	988	0	KCNJ3	2	155711297	Frame_Shift_Del	DEL	T	TCGA-CV-7104-01A-11D-2012-08	48251332	155711297	87488076	19	50414											
TTN	7273	broad.mit.edu	37	chr2	179616392	179616392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actattaattgctagtaaccTataacttccagaatctctgt	13	15	4	9	0	1	1	0	0	1	1	3	1	2	1	2	0	3	2	2	0	7	8			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:179616392T>C	ENST00000360870.5	-	46	10957	c.10735A>G	c.(10735-10737)Agg>Ggg	p.R3579G	TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3574	Ig-like 21.						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)			GCTAGTAACCTATAACTTCCA	0.373													3	129					0	0	0	0	C	179616392	T	C	179616392	3	2	282	1	0	0	0	0	1	0	0	0	16831	1521	53	5	99562	5	TTN	2	179616392	Missense_Mutation	SNP	T	TCGA-CV-7104-01A-11D-2012-08	23905095	179616392	63582981	20	50415											
PARD3B	117583	broad.mit.edu	37	chr2	206265816	206265816	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtggcctgagagaagaaGagctggagaaaatgaaagaa	18	5	15	3	0	0	7	0	2	0	5	0	9	0	7	1	3	1	1	1	3	6	0			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:206265816G>C	ENST00000406610.2	+	19	2917	c.2710G>C	c.(2710-2712)Gag>Cag	p.E904Q	PARD3B_ENST00000349953.3_Missense_Mutation_p.E904Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.E835Q|PARD3B_ENST00000358768.2_Missense_Mutation_p.E842Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	904					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GAGAGAAGAAGAGCTGGAGAA	0.428													3	13					0	0	0	0	C	206265816	G	C	206265816	3	2	282	1	0	0	0	0	1	0	0	0	11515	943	33	2	2784	2	PARD3B	2	206265816	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	26649424	206265816	36933557	21	50416											
MAP2	4133	broad.mit.edu	37	chr2	210518097	210518097	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggtcacagggcacctattCaaataccaaagagaatggga	15	7	11	8	0	2	1	2	0	0	1	2	3	2	2	2	3	1	1	2	3	5	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:210518097C>G	ENST00000360351.4	+	4	709	c.203C>G	c.(202-204)tCa>tGa	p.S68*	MAP2_ENST00000392194.1_Nonsense_Mutation_p.S68*|MAP2_ENST00000447185.1_Nonsense_Mutation_p.S68*|MAP2_ENST00000199940.6_Nonsense_Mutation_p.S68*|MAP2_ENST00000361559.4_Nonsense_Mutation_p.S68*	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	68					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGCACCTATTCAAATACCAAA	0.532													23	52					0	0	0	0	G	210518097	C	G	210518097	4	3	282	1	0	0	0	0	0	1	0	0	9304	838	29	2	205	2	MAP2	2	210518097	Nonsense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	4252281	210518097	32681276	22	50417											
HYAL2	8692	broad.mit.edu	37	chr3	50356381	50356389	+	Splice_Site	DEL	GCTTACCGT	GCTTACCGT	-																															gctctggcaggctgggtctcGcttaccgtgcttgtggtgta																										TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:50356381_50356389delGCTTACCGT	ENST00000447092.1	-	2	3301_3304	c.1011_splice	c.e2+1	p.337_splice	HYAL2_ENST00000442581.1_Splice_Site_p.337_splice|HYAL2_ENST00000395139.3_Splice_Site_p.337_splice|HYAL2_ENST00000357750.4_Splice_Site_p.337_splice			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	337						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	GCTGGGTCTCGCTTACCGTGCTTGTGGTG	0.584													9	43	---	---	---	---					-	50356389	GCTTACCGT	-	50356381	8	5	282	1	0	1	0	1	0	0	1	0	7517	1102	38	0		0	HYAL2	3	50356381	Splice_Site	DEL	GCTTACCGT	TCGA-CV-7104-01A-11D-2012-08		50356381	147666049	23	50418											
DNAJC13	23317	broad.mit.edu	37	chr3	132166224	132166224	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggacaaggaacggagttCaacctcacatttcgtaaagg	16	7	10	8	2	2	0	2	0	0	0	3	3	2	3	1	4	2	2	1	4	6	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:132166224C>T	ENST00000260818.6	+	4	452	c.204C>T	c.(202-204)ttC>ttT	p.F68F	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	68							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GAACGGAGTTCAACCTCACAT	0.368													13	69					0	0	0	0	T	132166224	C	T	132166224	2	4	282	1	0	0	0	0	0	0	0	1	4668	825	29	2		2	DNAJC13	3	132166224	Silent	SNP	C	TCGA-CV-7104-01A-11D-2012-08	81809843	132166224	65856206	24	50419											
GFM1	85476	broad.mit.edu	37	chr3	158363475	158363475	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattcctaatgaaaaaataCgaaatattggaatctcagct	17	12	6	6	1	1	2	1	2	1	0	3	4	2	3	1	1	2	1	1	1	8	5	rs119470019		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:158363475C>T	ENST00000486715.1	+	2	496	c.139C>T	c.(139-141)Cga>Tga	p.R47*	GFM1_ENST00000264263.5_Nonsense_Mutation_p.R47*|GFM1_ENST00000478576.1_Nonsense_Mutation_p.R47*	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	47					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGAAAAAATACGAAATATTGG	0.383													27	53					0	0	0	0	T	158363475	C	T	158363475	4	4	282	1	0	0	0	0	0	1	0	0	6392	528	19	1	145	1	GFM1	3	158363475	Nonsense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	26197251	158363475	39658955	25	50420											
SERPINI2	5276	broad.mit.edu	37	chr3	167183380	167183380	+	Missense_Mutation	SNP	C	C	A																															tgaatttctgtttccaatctCctttgaaataaatagcattc																										TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:167183380C>A	ENST00000476257.1	-	5	858	c.560G>T	c.(559-561)gGa>gTa	p.G187V	SERPINI2_ENST00000471111.1_Missense_Mutation_p.G187V|SERPINI2_ENST00000461846.1_Missense_Mutation_p.G187V|SERPINI2_ENST00000264677.4_Missense_Mutation_p.G187V			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	187					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TTTCCAATCTCCTTTGAAATA	0.388													15	35					3.27435e-08	1.69781e-07	1	0	A	167183380	C	A	167183380	3	1	282	1	0	0	0	0	1	0	0	0	14206	855	30	2	681	2	SERPINI2	3	167183380	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	8819905	167183380	30839050	26	50421	399	2									
SERPINI2	5276	broad.mit.edu	37	chr3	167183382	167183382	+	Silent	SNP	T	T	C																															aatttctgtttccaatctccTttgaaataaatagcattcac																										TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:167183382T>C	ENST00000476257.1	-	5	856	c.558A>G	c.(556-558)aaA>aaG	p.K186K	SERPINI2_ENST00000471111.1_Silent_p.K186K|SERPINI2_ENST00000461846.1_Silent_p.K186K|SERPINI2_ENST00000264677.4_Silent_p.K186K			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	186					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TCCAATCTCCTTTGAAATAAA	0.393													16	34					0	0	0	0	C	167183382	T	C	167183382	2	2	282	1	0	0	0	0	0	0	0	1	14206	1606	56	5		5	SERPINI2	3	167183382	Silent	SNP	T	TCGA-CV-7104-01A-11D-2012-08	2	167183382	30839048	27	50422	399	2									
MECOM	2122	broad.mit.edu	37	chr3	168838947	168838947	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcatgggcccgggcaccGacatgctgagagcgaatgtg	9	6	15	11	3	0	1	0	1	0	1	0	4	0	1	2	2	3	3	2	2	1	0			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:168838947G>T	ENST00000464456.1	-	6	1665	c.465C>A	c.(463-465)gtC>gtA	p.V155V	MECOM_ENST00000468789.1_Silent_p.V155V|MECOM_ENST00000460814.1_Silent_p.V155V|MECOM_ENST00000494292.1_Silent_p.V343V|MECOM_ENST00000433243.2_Silent_p.V156V|MECOM_ENST00000264674.3_Silent_p.V220V|MECOM_ENST00000472280.1_Silent_p.V156V|MECOM_ENST00000392736.3_Silent_p.V155V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCCGGGCACCGACATGCTGAG	0.522													16	42					9.16793e-09	4.78922e-08	1	0	T	168838947	G	T	168838947	2	4	282	1	0	0	0	0	0	0	0	1	9491	1045	37	3		3	MECOM	3	168838947	Silent	SNP	G	TCGA-CV-7104-01A-11D-2012-08	1655565	168838947	29183483	28	50423											
CHRD	8646	broad.mit.edu	37	chr3	184104380	184104380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggatacagcctctgctgCgccgcctgtggtgcctggtc	3	10	13	15	3	1	0	0	0	1	0	3	1	2	1	5	3	5	1	5	3	1	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:184104380C>T	ENST00000204604.1	+	16	2279	c.2033C>T	c.(2032-2034)gCg>gTg	p.A678V	CHRD_ENST00000348986.3_Missense_Mutation_p.A638V|CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.A678V	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	678					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTCTGCTGCGCCGCCTGTG	0.711													5	17					0	0	0	0	T	184104380	C	T	184104380	3	4	282	1	0	0	0	0	1	0	0	0	3401	768	27	1	2095	1	CHRD	3	184104380	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	15265433	184104380	13918050	29	50424											
NCBP2	22916	broad.mit.edu	37	chr3	196664503	196664503	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgcatggcgttttccgcatCtgcgcgtgagtaatatctta	7	13	10	11	5	2	1	0	1	2	0	3	1	3	1	2	1	1	4	2	1	3	5			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:196664503C>G	ENST00000447325.1	-	3	416	c.67G>C	c.(67-69)Gat>Cat	p.D23H	NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000452404.2_Missense_Mutation_p.D75H|NCBP2_ENST00000422610.1_Missense_Mutation_p.D23H|NCBP2_ENST00000427641.2_Splice_Site|NCBP2_ENST00000321256.5_Missense_Mutation_p.D93H			P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	93					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TTTTCCGCATCTGCGCGTGAG	0.448													21	77					0	0	0	0	G	196664503	C	G	196664503	3	3	282	1	0	0	0	0	1	0	0	0	10282	927	32	2	201	2	NCBP2	3	196664503	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	12560123	196664503	1357927	30	50425											
MFSD10	10227	broad.mit.edu	37	chr4	2934445	2934445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaggccgcaaagctcCgagaggtggcccagactgca	11	3	14	13	2	0	2	0	0	0	2	1	4	1	3	4	4	2	3	4	4	2	0			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr4:2934445C>T	ENST00000329687.4	-	4	947	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	MFSD10_ENST00000508221.1_Missense_Mutation_p.R138Q|MFSD10_ENST00000355443.4_Missense_Mutation_p.R138Q|MFSD10_ENST00000514800.1_Missense_Mutation_p.R138Q|MFSD10_ENST00000507555.1_Missense_Mutation_p.R138Q	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	138					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGCAAAGCTCCGAGAGGTGGC	0.652													15	64					0	0	0	0	T	2934445	C	T	2934445	3	4	282	1	0	0	0	0	1	0	0	0	9597	652	23	1	990	1	MFSD10	4	2934445	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08		2934445	188219831	31	50426											
ATP8A1	10396	broad.mit.edu	37	chr4	42445599	42445599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacctctcctgacatatcagGggccatcggaatggcaggcc	9	8	11	13	1	2	1	1	1	1	0	4	2	2	2	4	5	1	1	4	5	3	2			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr4:42445599G>T	ENST00000381668.5	-	33	3337	c.3106C>A	c.(3106-3108)Cct>Act	p.P1036T	ATP8A1_ENST00000264449.10_Missense_Mutation_p.P1021T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1036					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GACATATCAGGGGCCATCGGA	0.433													11	28					4.36969e-10	2.31726e-09	1	0	T	42445599	G	T	42445599	3	4	282	1	0	0	0	0	1	0	0	0	1196	1232	43	4	408	4	ATP8A1	4	42445599	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	39511154	42445599	148708677	32	50427											
CORIN	10699	broad.mit.edu	37	chr4	47605597	47605597	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggggatgcaggatgatggTcttcacaaagcgtgtctgca	9	9	15	8	2	3	1	1	1	2	0	3	3	3	3	0	4	3	2	0	4	1	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr4:47605597T>C	ENST00000273857.4	-	20	2628	c.2629A>G	c.(2629-2631)Acc>Gcc	p.T877A	CORIN_ENST00000508498.1_Missense_Mutation_p.T738A|CORIN_ENST00000502252.1_Missense_Mutation_p.T810A|CORIN_ENST00000505909.1_Missense_Mutation_p.T840A	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	877	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGATGATGGTCTTCACAAAG	0.488													3	50					0	0	0	0	C	47605597	T	C	47605597	3	2	282	1	0	0	0	0	1	0	0	0	3782	1667	58	5	511	5	CORIN	4	47605597	Missense_Mutation	SNP	T	TCGA-CV-7104-01A-11D-2012-08	5159998	47605597	143548679	33	50428											
ADCY2	108	broad.mit.edu	37	chr5	7396480	7396480	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcggcgggcggcggagAcgggctgccgcggtcccggg	3	2	24	12	8	0	1	0	0	0	1	1	3	1	2	2	9	1	1	2	9	0	0			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:7396480A>T	ENST00000338316.4	+	1	160	c.71A>T	c.(70-72)gAc>gTc	p.D24V		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	24					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGCGGCGGAGACGGGCTGCCG	0.726													16	22					0	0	0	0	T	7396480	A	T	7396480	3	4	282	1	0	0	0	0	1	0	0	0	294	275	10	5	73	5	ADCY2	5	7396480	Missense_Mutation	SNP	A	TCGA-CV-7104-01A-11D-2012-08		7396480	173518780	34	50429											
CDH12	1010	broad.mit.edu	37	chr5	21752115	21752115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctgtgttatcttccatggGtggtctctgacgaggtaaac	7	14	12	8	1	3	1	0	1	3	0	5	2	4	1	1	3	1	2	1	3	3	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:21752115G>T	ENST00000382254.1	-	15	3202	c.2116C>A	c.(2116-2118)Ccc>Acc	p.P706T	CDH12_ENST00000504376.2_Missense_Mutation_p.P706T|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.P666T|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	706					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTTCCATGGGTGGTCTCTGA	0.448										HNSCC(59;0.17)			23	92					1.64293e-13	9.05554e-13	1	0	T	21752115	G	T	21752115	3	4	282	1	0	0	0	0	1	0	0	0	3127	1261	44	4	272	4	CDH12	5	21752115	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	14355635	21752115	159163145	35	50430											
CDH9	1007	broad.mit.edu	37	chr5	26881690	26881690	+	Frame_Shift_Del	DEL	T	T	-																															ttgaaattatcagaggttccTtttttctttgcctcttcaat																										TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:26881690delT	ENST00000231021.4	-	12	2097	c.1925delA	c.(1924-1926)agfs	p.K642fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	642					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAGAGGTTCCTTTTTTCTTTG	0.398													8	156	---	---	---	---					-	26881690	T	-	26881690	7	5	282	1	0	1	0	1	0	0	0	0	3146	1609	56	0	448	0	CDH9	5	26881690	Frame_Shift_Del	DEL	T	TCGA-CV-7104-01A-11D-2012-08	5129575	26881690	154033570	36	50431											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576387	33576387	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtctcctcccagagggagCagagtgttggctggcttttc	5	12	14	10	0	1	2	0	0	1	2	4	3	2	3	2	4	1	4	2	4	0	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:33576387C>A	ENST00000504830.1	-	19	4079	c.3744G>T	c.(3742-3744)ctG>ctT	p.L1248L	ADAMTS12_ENST00000352040.3_Silent_p.L1163L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1248	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L1248L(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCAGAGGGAGCAGAGTGTTGG	0.522										HNSCC(64;0.19)			56	177					1.46156e-29	8.67025e-29	1	0	A	33576387	C	A	33576387	2	1	282	1	0	0	0	0	0	0	0	1	257	697	25	4		4	ADAMTS12	5	33576387	Silent	SNP	C	TCGA-CV-7104-01A-11D-2012-08	6694697	33576387	147338873	37	50432											
UGT3A2	167127	broad.mit.edu	37	chr5	36066838	36066838	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttggcagcctctgagagCaggaccccagggagaaggaa	12	6	14	9	0	1	2	0	1	1	2	1	6	1	4	3	4	2	2	3	4	2	2			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:36066838C>A	ENST00000282507.3	-	1	155	c.54G>T	c.(52-54)ctG>ctT	p.L18L	UGT3A2_ENST00000513300.1_Silent_p.L18L|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	18						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTCTGAGAGCAGGACCCCAG	0.607													97	131					3.57987e-33	2.1418e-32	1	0	A	36066838	C	A	36066838	2	1	282	1	0	0	0	0	0	0	0	1	17060	697	25	4		4	UGT3A2	5	36066838	Silent	SNP	C	TCGA-CV-7104-01A-11D-2012-08	2490451	36066838	144848422	38	50433											
ANKHD1	54882	broad.mit.edu	37	chr5	139781714	139781714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggccgggccagcgtcGggagtcggcagcagcggcgg	5	2	23	11	6	0	0	0	0	0	0	2	2	0	2	2	8	3	2	2	8	0	0			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:139781714G>A	ENST00000297183.6	+	1	286	c.162G>A	c.(160-162)tcG>tcA	p.S54S	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S54S|ANKHD1_ENST00000394722.3_Silent_p.S54S|ANKHD1_ENST00000360839.2_Silent_p.S54S|ANKHD1_ENST00000394723.3_Silent_p.S54S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCAGCGTCGGGAGTcggca	0.766													16	9					0	0	0	0	A	139781714	G	A	139781714	2	1	282	1	0	0	0	0	0	0	0	1	628	1103	39	1		1	ANKHD1	5	139781714	Silent	SNP	G	TCGA-CV-7104-01A-11D-2012-08	103714876	139781714	41133546	39	50434											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789785	140789785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaacttgcaagagatactGccagacctcagcgaccgccc	12	5	9	15	2	1	2	1	0	0	2	1	5	1	2	4	0	5	1	4	0	3	2			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:140789785G>A	ENST00000520790.1	+	1	2016	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAGATACTGCCAGACCTCA	0.607													66	54					0	0	0	0	A	140789785	G	A	140789785	2	1	282	1	0	0	0	0	0	0	0	1	11638	1306	46	4		4	PCDHGB6	5	140789785	Silent	SNP	G	TCGA-CV-7104-01A-11D-2012-08	1008071	140789785	40125475	40	50435											
NR3C1	2908	broad.mit.edu	37	chr5	142675046	142675046	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagagagaagcagtaaggTtttcatacagagatactctt	15	11	10	5	0	2	4	1	1	1	3	2	6	2	4	0	1	3	3	0	1	5	6			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:142675046T>G	ENST00000343796.2	-	7	2995	c.2002A>C	c.(2002-2004)Acc>Ccc	p.T668P	NR3C1_ENST00000503201.1_Missense_Mutation_p.T668P|NR3C1_ENST00000231509.3_Missense_Mutation_p.T669P|NR3C1_ENST00000504572.1_Missense_Mutation_p.T669P|NR3C1_ENST00000416954.2_Missense_Mutation_p.T271P|NR3C1_ENST00000394464.2_Missense_Mutation_p.T668P|NR3C1_ENST00000424646.2_Missense_Mutation_p.T642P|NR3C1_ENST00000415690.2_Missense_Mutation_p.T668P|NR3C1_ENST00000394466.2_Missense_Mutation_p.T669P	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	668	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	AGCAGTAAGGTTTTCATACAG	0.378													9	38					0	0	0	0	G	142675046	T	G	142675046	3	3	282	1	0	0	0	0	1	0	0	0	10701	1725	60	5	395	5	NR3C1	5	142675046	Missense_Mutation	SNP	T	TCGA-CV-7104-01A-11D-2012-08	1885261	142675046	38240214	41	50436											
FAT2	2196	broad.mit.edu	37	chr5	150929062	150929062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgataggtatttcctggtctCggacctatgggcccaaaggg	8	11	13	9	1	1	1	0	1	1	0	3	2	2	2	3	5	0	1	3	5	4	4			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:150929062C>T	ENST00000261800.5	-	8	4595	c.4583G>A	c.(4582-4584)cGa>cAa	p.R1528Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1528	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTGGTCTCGGACCTATGG	0.483													26	12					0	0	0	0	T	150929062	C	T	150929062	3	4	282	1	0	0	0	0	1	0	0	0	5735	884	31	1	8530	1	FAT2	5	150929062	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	8254016	150929062	29986198	42	50437											
WWC1	23286	broad.mit.edu	37	chr5	167850580	167850580	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctcaggcagcagcccCggatccctcacgtccagccg	6	6	10	19	3	2	0	2	0	0	0	5	1	5	1	6	2	3	2	6	2	0	0			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:167850580C>G	ENST00000265293.4	+	11	1819	c.1317C>G	c.(1315-1317)ccC>ccG	p.P439P	WWC1_ENST00000521089.1_Silent_p.P439P	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	439					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.P439P(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCAGCAGCCCCGGATCCCTCA	0.617													32	111					0	0	0	0	G	167850580	C	G	167850580	2	3	282	1	0	0	0	0	0	0	0	1	17507	639	23	3		3	WWC1	5	167850580	Silent	SNP	C	TCGA-CV-7104-01A-11D-2012-08	16921518	167850580	13064680	43	50438											
LSM2	57819	broad.mit.edu	37	chr6	31765655	31765655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgaagcagttcttcactGataactagacaaagatggac	16	9	9	7	0	2	4	1	2	1	2	2	6	2	5	0	1	2	2	0	1	5	4			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr6:31765655G>A	ENST00000375661.5	-	5	393	c.167C>T	c.(166-168)tCa>tTa	p.S56L	LSM2_ENST00000491421.1_5'UTR	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	56					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding			large_intestine(1)|lung(1)	2						GTTCTTCACTGATAACTAGAC	0.493													47	154					0	0	0	0	A	31765655	G	A	31765655	3	1	282	1	0	0	0	0	1	0	0	0	9120	1294	45	2	124	2	LSM2	6	31765655	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08		31765655	139349412	44	50439											
DNAH8	1769	broad.mit.edu	37	chr6	38843598	38843598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtatgagttttatgttactGattatggtaagcccactgaa	11	16	9	5	0	0	3	0	3	0	0	0	3	0	3	1	1	2	4	1	1	6	6			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr6:38843598G>A	ENST00000359357.3	+	51	7455	c.7201G>A	c.(7201-7203)Gat>Aat	p.D2401N	DNAH8_ENST00000441566.1_Missense_Mutation_p.D2365N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D2618N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTATGTTACTGATTATGGTAA	0.328													10	16					0	0	0	0	A	38843598	G	A	38843598	3	1	282	1	0	0	0	0	1	0	0	0	4643	1290	45	2	7395	2	DNAH8	6	38843598	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	7077943	38843598	132271469	45	50440											
ZNF451	26036	broad.mit.edu	37	chr6	56993596	56993596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgaggacattctgatacaGaagcagcaagactgtgtgtg	12	10	12	7	1	1	3	0	1	1	2	2	5	1	4	0	1	3	2	0	1	3	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr6:56993596G>A	ENST00000370706.4	+	5	626	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.E128K|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000370711.5_3'UTR|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.E128K|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTCTGATACAGAAGCAGCAAG	0.373													24	48					0	0	0	0	A	56993596	G	A	56993596	3	1	282	1	0	0	0	0	1	0	0	0	18017	943	33	2	400	2	ZNF451	6	56993596	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	18149998	56993596	114121471	46	50441											
SGK1	6446	broad.mit.edu	37	chr6	134495871	134495871	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagattcctgcactcaccGatgagaattgccaccatgcc	11	8	8	14	1	1	2	1	1	0	2	2	4	2	2	5	0	3	2	5	0	2	2			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr6:134495871G>A	ENST00000237305.7	-	1	163	c.76_splice	c.e1+1	p.I25_splice	SGK1_ENST00000475719.2_Splice_Site_p.I25_splice|SGK1_ENST00000367858.5_Intron|SGK1_ENST00000413996.3_Intron|SGK1_ENST00000528577.1_Intron|SGK1_ENST00000367857.5_5'UTR	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	25	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGCACTCACCGATGAGAATTG	0.542											OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	113					0	0	0	0	A	134495871	G	A	134495871	5	1	282	1	0	0	0	0	0	0	1	0	14294	1072	37	1	1268	1	SGK1	6	134495871	Splice_Site	SNP	G	TCGA-CV-7104-01A-11D-2012-08	77502275	134495871	36619196	47	50442											
BAZ1B	9031	broad.mit.edu	37	chr7	72884760	72884760	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggaaagctttctcagCagctgctttgtgcttccgta	6	15	9	11	1	1	0	1	0	1	0	4	1	3	1	2	1	5	6	2	1	2	5			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:72884760C>A	ENST00000339594.4	-	8	2985	c.2647G>T	c.(2647-2649)Gct>Tct	p.A883S	BAZ1B_ENST00000404251.1_Missense_Mutation_p.A883S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	883					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCTTTCTCAGCAGCTGCTTTG	0.428													34	55					3.11337e-16	1.77184e-15	1	0	A	72884760	C	A	72884760	3	1	282	1	0	0	0	0	1	0	0	0	1334	710	25	4	1852	4	BAZ1B	7	72884760	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08		72884760	86253903	48	50443											
TAS2R38	5726	broad.mit.edu	37	chr7	141673457	141673457	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtactcctgacttcataGgacacagtgcggatgcgagt	11	10	11	9	2	1	1	1	1	0	0	2	4	2	3	1	2	3	1	1	2	3	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:141673457G>C	ENST00000547270.1	-	1	116	c.33C>G	c.(31-33)tcC>tcG	p.S11S		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	11					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TGACTTCATAGGACACAGTGC	0.433													19	68					0	0	0	0	C	141673457	G	C	141673457	2	2	282	1	0	0	0	0	0	0	0	1	15666	987	35	4		4	TAS2R38	7	141673457	Silent	SNP	G	TCGA-CV-7104-01A-11D-2012-08	68788697	141673457	17465206	49	50444											
ARHGEF5	7984	broad.mit.edu	37	chr7	144075958	144075958	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactcagcagagcagtgaCggtaagcgggagcatgcgtg	10	6	17	8	3	1	3	1	2	0	1	1	4	1	4	0	2	5	4	0	2	1	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:144075958C>A	ENST00000056217.5	+	14	4809	c.4636_splice	c.e14+1	p.D1545_splice	ARHGEF5_ENST00000471847.2_Splice_Site_p.D467_splice	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1545	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGAGCAGTGACGGTAAGCGGG	0.592													35	96					6.84511e-11	3.65769e-10	1	0	A	144075958	C	A	144075958	5	1	282	1	0	0	0	0	0	0	1	0	911	550	19	3	4685	3	ARHGEF5	7	144075958	Splice_Site	SNP	C	TCGA-CV-7104-01A-11D-2012-08	2402501	144075958	15062705	50	50445											
NOS3	4846	broad.mit.edu	37	chr7	150693876	150693876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcccaggcccacgaacagCggcttcaagaggtggaagcc	10	4	13	14	2	1	1	1	0	0	1	2	3	2	2	3	4	3	2	3	4	3	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:150693876C>T	ENST00000297494.3	+	5	802	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	NOS3_ENST00000461406.1_Intron|NOS3_ENST00000484524.1_Missense_Mutation_p.R149W|NOS3_ENST00000467517.1_Missense_Mutation_p.R149W	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	149	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R149R(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCACGAACAGCGGCTTCAAGA	0.657													5	21					0	0	0	0	T	150693876	C	T	150693876	3	4	282	1	0	0	0	0	1	0	0	0	10614	759	27	1	459	1	NOS3	7	150693876	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	6617918	150693876	8444787	51	50446											
ZNF596	169270	broad.mit.edu	37	chr8	196070	196070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaatcttctgacctcagacGacatgagagaactcacactg	13	9	8	11	1	4	5	2	3	2	2	4	7	4	5	1	0	1	0	1	0	2	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:196070G>A	ENST00000398612.1	+	6	1606	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	ZNF596_ENST00000320552.2_Missense_Mutation_p.R338Q|ZNF596_ENST00000308811.4_Missense_Mutation_p.R408Q	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R408Q(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		GACCTCAGACGACATGAGAGA	0.438													20	38					0	0	0	0	A	196070	G	A	196070	3	1	282	1	0	0	0	0	1	0	0	0	18121	1058	37	1	1241	1	ZNF596	8	196070	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08		196070	146167952	52	50447											
SDCBP	6386	broad.mit.edu	37	chr8	59494271	59494271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaagcattatgaaaagccTaatggaccacaccattcctg	15	8	6	12	0	0	1	0	1	0	0	1	2	1	2	5	1	2	1	5	1	5	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:59494271T>C	ENST00000523483.1	+	10	2443	c.929T>C	c.(928-930)cTa>cCa	p.L310P	SDCBP_ENST00000447267.2_Missense_Mutation_p.L236P|SDCBP_ENST00000413219.2_Missense_Mutation_p.L290P|SDCBP_ENST00000260130.4_Missense_Mutation_p.L290P|SDCBP_ENST00000424270.2_Missense_Mutation_p.L284P|SDCBP_ENST00000520168.1_Missense_Mutation_p.L231P|SDCBP_ENST00000447182.2_Missense_Mutation_p.L289P|SDCBP_ENST00000422546.2_Missense_Mutation_p.L289P			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	290					actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGAAAAGCCTAATGGACCAC	0.388													3	129					0	0	0	0	C	59494271	T	C	59494271	3	2	282	1	0	0	0	0	1	0	0	0	14042	1522	53	5	899	5	SDCBP	8	59494271	Missense_Mutation	SNP	T	TCGA-CV-7104-01A-11D-2012-08	59298201	59494271	86869751	53	50448											
ARMC1	55156	broad.mit.edu	37	chr8	66539564	66539564	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttaacggatctgctgctaGatcccgtaactggttaacta	10	13	9	9	2	1	1	0	0	1	1	2	2	2	2	1	2	5	5	1	2	5	6			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:66539564G>C	ENST00000458464.2	-	0	278				ARMC1_ENST00000523384.1_5'UTR|ARMC1_ENST00000276569.3_Missense_Mutation_p.L24V			Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1						metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TCTGCTGCTAGATCCCGTAAC	0.463													32	168					0	0	0	0	C	66539564	G	C	66539564	1	2	282	1	0	0	0	0	0	0	0	0	953	933	33	2		2	ARMC1	8	66539564	Translation_Start_Site	SNP	G	TCGA-CV-7104-01A-11D-2012-08	7045293	66539564	79824458	54	50449											
SULF1	23213	broad.mit.edu	37	chr8	70570762	70570762	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagttatgggatggatggGaaggttaatcagccccgtct	10	10	14	7	1	2	0	1	0	1	0	2	4	2	3	2	4	1	2	2	4	3	2			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:70570762G>T	ENST00000260128.4	+	23	3325	c.2608G>T	c.(2608-2610)Gaa>Taa	p.E870*	SULF1_ENST00000402687.4_Nonsense_Mutation_p.E870*|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Nonsense_Mutation_p.E870*|SULF1_ENST00000458141.2_Nonsense_Mutation_p.E870*	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	870					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGATGGATGGGAAGGTTAATC	0.433													40	45					8.04919e-23	4.73482e-22	1	0	T	70570762	G	T	70570762	4	4	282	1	0	0	0	0	0	1	0	0	15460	1175	41	2	2682	2	SULF1	8	70570762	Nonsense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	4031198	70570762	75793260	55	50450											
LRRCC1	85444	broad.mit.edu	37	chr8	86035688	86035688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgttcttgagaaagaccccaGaccaaaaagagacacagata	18	5	8	10	1	1	5	0	1	1	5	1	7	1	5	3	0	0	1	3	0	4	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:86035688G>A	ENST00000414626.2	+	6	1800	c.911G>A	c.(910-912)aGa>aAa	p.R304K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R324K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	324					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAGACCCCAGACCAAAAAGA	0.308													4	155					0	0	0	0	A	86035688	G	A	86035688	3	1	282	1	0	0	0	0	1	0	0	0	9090	942	33	2	997	2	LRRCC1	8	86035688	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	15464926	86035688	60328334	56	50451											
ESRP1	54845	broad.mit.edu	37	chr8	95677422	95677422	+	Missense_Mutation	SNP	G	G	T																															agatttccttaaaattgctgGtggtaagtgccttttacata																										TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:95677422G>T	ENST00000433389.2	+	9	1119	c.929G>T	c.(928-930)gGt>gTt	p.G310V	ESRP1_ENST00000358397.5_Missense_Mutation_p.G310V|ESRP1_ENST00000454170.2_Missense_Mutation_p.G310V|ESRP1_ENST00000423620.2_Missense_Mutation_p.G310V	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	310					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AAAATTGCTGGTGGTAAGTGC	0.348													9	26					0.000274275	0.00137138	1	0	T	95677422	G	T	95677422	3	4	282	1	0	0	0	0	1	0	0	0	5296	1261	44	4	963	4	ESRP1	8	95677422	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	9641734	95677422	50686600	57	50452	400	2									
ESRP1	54845	broad.mit.edu	37	chr8	95677423	95677423	+	Splice_Site	SNP	T	T	A																															gatttccttaaaattgctggTggtaagtgccttttacataa																										TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:95677423T>A	ENST00000433389.2	+	9	1120	c.931_splice	c.e9+1	p.G310_splice	ESRP1_ENST00000358397.5_Splice_Site_p.G310_splice|ESRP1_ENST00000454170.2_Splice_Site_p.G310_splice|ESRP1_ENST00000423620.2_Splice_Site_p.G310_splice	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	310					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AAATTGCTGGTGGTAAGTGCC	0.343													8	25					0	0	0	0	A	95677423	T	A	95677423	5	1	282	1	0	0	0	0	0	0	1	0	5296	1710	59	5	964	5	ESRP1	8	95677423	Splice_Site	SNP	T	TCGA-CV-7104-01A-11D-2012-08	1	95677423	50686599	58	50453	400	2									
TRPS1	7227	broad.mit.edu	37	chr8	116631947	116631947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccccagcagctggagatgaGaaagccaacatatttctgtc	12	8	9	12	0	1	2	0	1	1	2	2	4	1	2	3	1	4	2	3	1	3	2			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:116631947G>C	ENST00000395715.3	-	3	955	c.378C>G	c.(376-378)ttC>ttG	p.F126L	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.F113L|TRPS1_ENST00000220888.5_Missense_Mutation_p.F113L|TRPS1_ENST00000520276.1_Missense_Mutation_p.F117L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	113					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGGAGATGAGAAAGCCAACA	0.527									Langer-Giedion syndrome				28	116					0	0	0	0	C	116631947	G	C	116631947	3	2	282	1	0	0	0	0	1	0	0	0	16688	933	33	2	3526	2	TRPS1	8	116631947	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	20954524	116631947	29732075	59	50454											
RECQL4	9401	broad.mit.edu	37	chr8	145737407	145737407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcctggtgctgcgctcctCatcctgctgctccaggcagg	4	9	13	15	1	1	0	1	0	0	0	4	1	4	0	4	3	5	5	4	3	0	0			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:145737407C>T	ENST00000428558.2	-	20	3321	c.3280G>A	c.(3280-3282)Gag>Aag	p.E1094K	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1094					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCGCTCCTCATCCTGCTGC	0.682			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				5	29					0	0	0	0	T	145737407	C	T	145737407	3	4	282	1	0	0	0	0	1	0	0	0	13284	835	29	2	358	2	RECQL4	8	145737407	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	29105460	145737407	626615	60	50455											
TAF1L	138474	broad.mit.edu	37	chr9	32633291	32633291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcacgaaaaaggttgttctCaagtgcctgcagtaattggc	12	10	11	8	1	1	0	1	0	1	0	2	1	1	0	1	2	3	5	1	2	4	4			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:32633291C>T	ENST00000242310.4	-	1	2376	c.2287G>A	c.(2287-2289)Gag>Aag	p.E763K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	763					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGGTTGTTCTCAAGTGCCTGC	0.433													8	99					0	0	0	0	T	32633291	C	T	32633291	3	4	282	1	0	0	0	0	1	0	0	0	15614	835	29	2	3197	2	TAF1L	9	32633291	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08		32633291	108580140	61	50456											
APBA1	320	broad.mit.edu	37	chr9	72047505	72047505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcgtggggggtggccaCgacgctctgtccattgattt	4	13	13	11	3	2	1	0	1	2	0	4	2	3	1	2	4	0	1	2	4	0	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:72047505C>T	ENST00000265381.4	-	12	2611	c.2389G>A	c.(2389-2391)Gtg>Atg	p.V797M		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	797	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGGGTGGCCACGACGCTCTGT	0.607													20	38					0	0	0	0	T	72047505	C	T	72047505	3	4	282	1	0	0	0	0	1	0	0	0	757	536	19	1	132	1	APBA1	9	72047505	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	39414214	72047505	69165926	62	50457											
TMEM2	23670	broad.mit.edu	37	chr9	74347385	74347385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagaattccaacctcagctCtcatgtctacaccgtctatg	11	12	5	13	1	4	1	2	0	3	1	6	1	5	1	3	0	3	1	3	0	5	4			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:74347385C>T	ENST00000377044.4	-	7	1984	c.1445G>A	c.(1444-1446)aGa>aAa	p.R482K	TMEM2_ENST00000377066.5_Missense_Mutation_p.R419K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	482						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AACCTCAGCTCTCATGTCTAC	0.408													5	38					0	0	0	0	T	74347385	C	T	74347385	3	4	282	1	0	0	0	0	1	0	0	0	16215	913	32	2	2778	2	TMEM2	9	74347385	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	2299880	74347385	66866046	63	50458											
ANKS6	203286	broad.mit.edu	37	chr9	101552849	101552849	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcattgacatcagccccGtgatccaacaggaggtgtgc	9	8	13	11	1	1	2	1	2	0	0	2	3	2	3	3	3	3	1	3	3	1	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:101552849G>A	ENST00000540940.1	-	0	36				ANKS6_ENST00000353234.4_Silent_p.H133H|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000375018.1_Silent_p.H133H			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6											endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CATCAGCCCCGTGATCCAACA	0.597													11	29					0	0	0	0	A	101552849	G	A	101552849	1	1	282	1	0	0	0	0	0	0	0	0	691	1136	40	1		1	ANKS6	9	101552849	Translation_Start_Site	SNP	G	TCGA-CV-7104-01A-11D-2012-08	27205464	101552849	39660582	64	50459											
ALG2	85365	broad.mit.edu	37	chr9	101980890	101980890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggacatcagggtctatgtGagacagggacttgaatgttt	11	11	14	5	0	2	2	1	2	1	1	2	6	2	4	0	3	0	1	0	3	2	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:101980890G>C	ENST00000476832.1	-	2	638	c.577C>G	c.(577-579)Cac>Gac	p.H193D	ALG2_ENST00000319033.6_Missense_Mutation_p.H100D	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	193					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	p.H193D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GGGTCTATGTGAGACAGGGAC	0.453													13	97					0	0	0	0	C	101980890	G	C	101980890	3	2	282	1	0	0	0	0	1	0	0	0	519	1290	45	2	677	2	ALG2	9	101980890	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	428041	101980890	39232541	65	50460											
AMBP	259	broad.mit.edu	37	chr9	116840403	116840403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgaagttttcctgcacttgGatgttgtcgggcggcgttgg	4	15	15	7	3	0	1	0	1	0	0	2	2	1	2	1	4	1	4	1	4	1	6			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:116840403G>C	ENST00000265132.3	-	1	349	c.87C>G	c.(85-87)atC>atG	p.I29M		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	29					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCTGCACTTGGATGTTGTCGG	0.637													14	105					0	0	0	0	C	116840403	G	C	116840403	3	2	282	1	0	0	0	0	1	0	0	0	564	1164	41	2	1011	2	AMBP	9	116840403	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	14859513	116840403	24373028	66	50461											
OR1N2	138882	broad.mit.edu	37	chr9	125316206	125316206	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctcctggagggagatggaAggccttctctacctgtggtt	7	12	13	9	0	2	1	0	0	2	1	4	4	2	3	3	5	1	1	3	5	2	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:125316206A>C	ENST00000373688.2	+	1	816	c.758A>C	c.(757-759)aAg>aCg	p.K253T		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GGGAGATGGAAGGCCTTCTCT	0.498													54	125					0	0	0	0	C	125316206	A	C	125316206	3	2	282	1	0	0	0	0	1	0	0	0	11041	72	3	5	760	5	OR1N2	9	125316206	Missense_Mutation	SNP	A	TCGA-CV-7104-01A-11D-2012-08	8475803	125316206	15897225	67	50462											
FAM129B	64855	broad.mit.edu	37	chr9	130269539	130269539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttttccgagagggtggctGactccggggtgctggggctg	3	10	19	9	2	0	2	0	1	0	1	2	3	2	2	2	6	1	4	2	6	0	2			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:130269539G>A	ENST00000373312.3	-	14	2039	c.1826C>T	c.(1825-1827)tCa>tTa	p.S609L	FAM129B_ENST00000373314.3_Missense_Mutation_p.S596L|FAM129B_ENST00000468379.1_5'UTR	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	609							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GAGGGTGGCTGACTCCGGGGT	0.697													5	52					0	0	0	0	A	130269539	G	A	130269539	3	1	282	1	0	0	0	0	1	0	0	0	5478	1294	45	2	418	2	FAM129B	9	130269539	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	4953333	130269539	10943892	68	50463											
FPGS	2356	broad.mit.edu	37	chr9	130572339	130572339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttcgagtcttgctcttcaAtgctaccggggaccgggacc	6	10	13	12	3	3	0	1	0	2	0	4	3	3	2	3	4	3	3	3	4	2	4			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:130572339A>G	ENST00000373245.1	+	12	1143	c.1093A>G	c.(1093-1095)Atg>Gtg	p.M365V	FPGS_ENST00000393706.2_Missense_Mutation_p.N388S|FPGS_ENST00000373225.3_Missense_Mutation_p.N364S|FPGS_ENST00000373247.2_Missense_Mutation_p.N414S|FPGS_ENST00000460181.1_3'UTR			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	0					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)	TTGCTCTTCAATGCTACCGGG	0.687													8	22					0	0	0	0	G	130572339	A	G	130572339	3	3	282	1	0	0	0	0	1	0	0	0	6083	101	4	5	1291	5	FPGS	9	130572339	Missense_Mutation	SNP	A	TCGA-CV-7104-01A-11D-2012-08	302800	130572339	10641092	69	50464											
RBP3	5949	broad.mit.edu	37	chr10	48388506	48388506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagcagcgggatggccGtggagtagctgccagggttg	8	6	19	8	2	0	1	0	0	0	1	0	3	0	3	2	4	5	5	2	4	1	2			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:48388506G>A	ENST00000224600.4	-	1	2485	c.2372C>T	c.(2371-2373)aCg>aTg	p.T791M		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	791	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.T791M(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CGGGATGGCCGTGGAGTAGCT	0.622													8	17					0	0	0	0	A	48388506	G	A	48388506	3	1	282	1	0	0	0	0	1	0	0	0	13239	1145	40	1	1387	1	RBP3	10	48388506	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08		48388506	87146241	70	50465											
JMJD1C	221037	broad.mit.edu	37	chr10	64966567	64966567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcagagccagattcataaGttcttttggcttttctcctg	7	18	7	9	0	4	2	2	0	2	2	5	2	4	2	2	1	1	2	2	1	1	8			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:64966567G>A	ENST00000399262.2	-	10	5080	c.4862C>T	c.(4861-4863)aCt>aTt	p.T1621I	JMJD1C_ENST00000542921.1_Missense_Mutation_p.T1439I|JMJD1C_ENST00000399251.1_Missense_Mutation_p.T1402I|JMJD1C_ENST00000402544.1_Missense_Mutation_p.T1402I	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1621					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGATTCATAAGTTCTTTTGGC	0.348													24	71					0	0	0	0	A	64966567	G	A	64966567	3	1	282	1	0	0	0	0	1	0	0	0	8003	1029	36	4	2828	4	JMJD1C	10	64966567	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	16578061	64966567	70568180	71	50466											
HKDC1	80201	broad.mit.edu	37	chr10	70992576	70992576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaagttccgagtgctgaagGtgcaagtcgctgaagagggg	10	7	16	8	2	0	3	0	2	0	1	2	4	1	3	2	3	2	4	2	3	4	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:70992576G>T	ENST00000354624.5	+	3	416	c.283G>T	c.(283-285)Gtg>Ttg	p.V95L	HKDC1_ENST00000395086.2_Missense_Mutation_p.V95L	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	95					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGTGCTGAAGGTGCAAGTCGC	0.502													37	100					1.42033e-22	8.28527e-22	1	0	T	70992576	G	T	70992576	3	4	282	1	0	0	0	0	1	0	0	0	7243	1261	44	4	293	4	HKDC1	10	70992576	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	6026009	70992576	64542171	72	50467											
STAMBPL1	57559	broad.mit.edu	37	chr10	90665316	90665316	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagacatcactccacgAcgttactttaggtctggagt	11	11	10	9	2	2	2	1	1	1	1	3	4	3	3	1	2	1	1	1	2	3	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:90665316A>G	ENST00000371927.3	+	3	1105	c.147A>G	c.(145-147)cgA>cgG	p.R49R	STAMBPL1_ENST00000371926.3_Silent_p.R49R|STAMBPL1_ENST00000371924.1_Silent_p.R49R			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	49							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TCACTCCACGACGTTACTTTA	0.423													27	58					0	0	0	0	G	90665316	A	G	90665316	2	3	282	1	0	0	0	0	0	0	0	1	15341	262	10	5		5	STAMBPL1	10	90665316	Silent	SNP	A	TCGA-CV-7104-01A-11D-2012-08	19672740	90665316	44869431	73	50468											
TNKS2	80351	broad.mit.edu	37	chr10	93619309	93619309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagctggcatttattttgCtgaaaactcttccaaaagca	12	13	8	8	0	1	1	0	1	1	0	2	2	2	2	1	2	4	4	1	2	5	5			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:93619309C>T	ENST00000371627.4	+	25	3564	c.3185C>T	c.(3184-3186)gCt>gTt	p.A1062V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1062	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ATTTATTTTGCTGAAAACTCT	0.403													25	62					0	0	0	0	T	93619309	C	T	93619309	3	4	282	1	0	0	0	0	1	0	0	0	16415	797	28	4	3283	4	TNKS2	10	93619309	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	2953993	93619309	41915438	74	50469											
MMS19	64210	broad.mit.edu	37	chr10	99228076	99228076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgacagagtcacaggccCgggcagatgcacctgcagct	9	6	14	12	1	1	3	1	1	0	2	1	3	1	3	2	3	3	4	2	3	0	0			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:99228076C>T	ENST00000438925.2	-	13	1486	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q	MMS19_ENST00000355839.6_Missense_Mutation_p.R341Q|MMS19_ENST00000327238.10_Intron|MMS19_ENST00000370782.2_Missense_Mutation_p.R384Q|MMS19_ENST00000327277.7_Missense_Mutation_p.R20Q	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	384					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		GTCACAGGCCCGGGCAGATGC	0.552								Direct reversal of damage					22	74					0	0	0	0	T	99228076	C	T	99228076	3	4	282	1	0	0	0	0	1	0	0	0	9742	652	23	1	2017	1	MMS19	10	99228076	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	5608767	99228076	36306671	75	50470											
TNNT3	7140	broad.mit.edu	37	chr11	1956071	1956071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccccagggacaaggccaaGgagctctgggagaccctgca	10	4	14	13	0	1	1	0	0	1	1	1	4	1	3	4	4	3	2	4	4	2	0			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:1956071G>A	ENST00000381558.1	+	13	858	c.579G>A	c.(577-579)aaG>aaA	p.K193K	TNNT3_ENST00000381589.3_Silent_p.K199K|TNNT3_ENST00000381579.3_Silent_p.K193K|TNNT3_ENST00000381548.3_Silent_p.K203K|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381549.3_Silent_p.K193K|TNNT3_ENST00000446240.1_Silent_p.K182K|TNNT3_ENST00000278317.6_Silent_p.K201K|TNNT3_ENST00000381561.4_Silent_p.K204K|TNNT3_ENST00000360603.3_Silent_p.K195K|TNNT3_ENST00000397301.1_Silent_p.K212K|TNNT3_ENST00000397304.2_Silent_p.K182K			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	212					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		ACAAGGCCAAGGAGCTCTGGG	0.612													46	149					0	0	0	0	A	1956071	G	A	1956071	2	1	282	1	0	0	0	0	0	0	0	1	16426	991	35	4		4	TNNT3	11	1956071	Silent	SNP	G	TCGA-CV-7104-01A-11D-2012-08		1956071	133050445	76	50471											
ART1	417	broad.mit.edu	37	chr11	3681420	3681420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcggcatctggacctGccttggggcccctatcaagg	5	11	11	14	1	3	0	1	0	2	0	4	1	3	1	4	5	1	1	4	5	2	4			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:3681420G>T	ENST00000250693.1	+	3	772	c.671G>T	c.(670-672)tGc>tTc	p.C224F		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	224					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	ATCTGGACCTGCCTTGGGGCC	0.602													20	55					8.28177e-16	4.67519e-15	1	0	T	3681420	G	T	3681420	3	4	282	1	0	0	0	0	1	0	0	0	1001	1319	46	4	677	4	ART1	11	3681420	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	1725349	3681420	131325096	77	50472											
DCDC1	341019	broad.mit.edu	37	chr11	31312208	31312208	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattacctttttcattgtttCttttcccactgtaatctcat	8	21	2	10	0	3	0	2	0	2	0	5	0	4	0	2	0	1	2	2	0	3	8			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:31312208C>A	ENST00000597505.1	-	5	945	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	DCDC1_ENST00000452803.1_Nonsense_Mutation_p.E316*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	316					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTCATTGTTTCTTTTCCCACT	0.323													12	38					5.16669e-11	2.78206e-10	1	0	A	31312208	C	A	31312208	4	1	282	1	0	0	0	0	0	1	0	0	4316	922	32	2	130	2	DCDC1	11	31312208	Nonsense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	27630788	31312208	103694308	78	50473											
PHF21A	51317	broad.mit.edu	37	chr11	45967551	45967551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattgtattttggaggaCgacctatataccaagagaag	13	11	10	7	1	0	1	0	0	0	1	0	5	0	3	2	2	2	2	2	2	6	7			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:45967551C>T	ENST00000257821.4	-	14	1915	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	PHF21A_ENST00000527753.1_Intron|PHF21A_ENST00000323180.6_Intron|PHF21A_ENST00000418153.2_Missense_Mutation_p.R430H	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	430					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TTTTGGAGGACGACCTATATA	0.488													20	72					0	0	0	0	T	45967551	C	T	45967551	3	4	282	1	0	0	0	0	1	0	0	0	11905	536	19	1	773	1	PHF21A	11	45967551	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	14655343	45967551	89038965	79	50474											
OR5D13	390142	broad.mit.edu	37	chr11	55540981	55540981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggtttttcagaataccCagaaatccaggttccactct	10	13	7	11	0	2	2	1	0	1	2	4	2	4	2	3	2	1	2	3	2	3	5			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:55540981C>T	ENST00000361760.1	+	1	68	c.68C>T	c.(67-69)cCa>cTa	p.P23L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCAGAATACCCAGAAATCCAG	0.373													9	120					0	0	0	0	T	55540981	C	T	55540981	3	4	282	1	0	0	0	0	1	0	0	0	11225	594	21	4	70	4	OR5D13	11	55540981	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	9573430	55540981	79465535	80	50475											
PCNXL3	399909	broad.mit.edu	37	chr11	65396095	65396095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctgtacaagctgcgtttCgtgctgacctacatcgcgcc	6	12	10	13	4	0	1	0	1	0	0	2	1	0	1	2	0	6	5	2	0	3	4			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:65396095C>T	ENST00000355703.3	+	23	4271	c.3732C>T	c.(3730-3732)ttC>ttT	p.F1244F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1244						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCTGCGTTTCGTGCTGACCT	0.602													20	52					0	0	0	0	T	65396095	C	T	65396095	2	4	282	1	0	0	0	0	0	0	0	1	11664	883	31	1		1	PCNXL3	11	65396095	Silent	SNP	C	TCGA-CV-7104-01A-11D-2012-08	9855114	65396095	69610421	81	50476											
WNK1	65125	broad.mit.edu	37	chr12	993920	993920	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacgtgcccaaatgacagAaggacccaacacagcacctc	15	4	8	14	1	0	3	0	1	0	2	1	4	0	4	3	1	3	1	3	1	4	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:993920A>G	ENST00000537687.1	+	19	5373	c.4730A>G	c.(4729-4731)gAa>gGa	p.E1577G	WNK1_ENST00000340908.4_Missense_Mutation_p.E910G|WNK1_ENST00000535572.1_Missense_Mutation_p.E1070G|WNK1_ENST00000530271.2_Missense_Mutation_p.E1815G|WNK1_ENST00000315939.6_Missense_Mutation_p.E1317G	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1317					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAAATGACAGAAGGACCCAAC	0.478													37	71					0	0	0	0	G	993920	A	G	993920	3	3	282	1	0	0	0	0	1	0	0	0	17473	246	9	5	5526	5	WNK1	12	993920	Missense_Mutation	SNP	A	TCGA-CV-7104-01A-11D-2012-08		993920	132857975	82	50477											
TAS2R7	50837	broad.mit.edu	37	chr12	10954441	10954443	+	In_Frame_Del	DEL	GAG	GAG	-																															gacaaatagtaggcaataaaGaggagaaggaaggaaatgac																										TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:10954441_10954443delGAG	ENST00000240687.2	-	1	783_785	c.727_729delCTC	c.(727-729)del	p.L243del		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	243					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						AGGCAATAAAGAGGAGAAGGAAG	0.483													10	61	---	---	---	---					-	10954443	GAG	-	10954441	7	5	282	1	0	1	0	1	0	0	0	0	15677	929	33	0	231	0	TAS2R7	12	10954441	In_Frame_Del	DEL	GAG	TCGA-CV-7104-01A-11D-2012-08	9960521	10954441	122897454	83	50478											
ADAMTS20	80070	broad.mit.edu	37	chr12	43826562	43826562	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaatggatgtccaaggttcTatatccttgaccacattggg	10	12	10	9	0	1	1	0	1	1	0	3	2	3	2	3	3	0	2	3	3	4	5			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:43826562T>C	ENST00000389420.3	-	20	2772	c.2773A>G	c.(2773-2775)Aga>Gga	p.R925G	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R79G|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R925G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	925	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCAAGGTTCTATATCCTTGA	0.383													3	176					0	0	0	0	C	43826562	T	C	43826562	3	2	282	1	0	0	0	0	1	0	0	0	266	1530	53	5	3038	5	ADAMTS20	12	43826562	Missense_Mutation	SNP	T	TCGA-CV-7104-01A-11D-2012-08	32872121	43826562	90025333	84	50479											
B4GALNT1	2583	broad.mit.edu	37	chr12	58021971	58021971	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcgtccgcgccgtgaagacGaagtcgtcgtccacccacag	8	5	12	16	8	0	2	0	1	0	1	4	3	2	2	4	0	0	0	4	0	2	0			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:58021971G>A	ENST00000341156.4	-	9	1661	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	B4GALNT1_ENST00000418555.2_Silent_p.F304F	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	359					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCGTGAAGACGAAGTCGTCGT	0.652													17	75					0	0	0	0	A	58021971	G	A	58021971	2	1	282	1	0	0	0	0	0	0	0	1	1270	1049	37	1		1	B4GALNT1	12	58021971	Silent	SNP	G	TCGA-CV-7104-01A-11D-2012-08	14195409	58021971	75829924	85	50480											
WSCD2	9671	broad.mit.edu	37	chr12	108618515	108618515	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctctctggctcttcaGatggaagtgcagtgttccgg	5	14	11	11	1	5	1	1	0	4	1	7	2	6	2	1	3	1	3	1	3	1	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:108618515G>T	ENST00000332082.4	+	6	1500		c.e6-1		WSCD2_ENST00000261400.3_Splice_Site|WSCD2_ENST00000547525.1_Splice_Site|WSCD2_ENST00000549903.1_Splice_Site			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2							integral to membrane		p.?(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGGCTCTTCAGATGGAAGTGC	0.517													22	86					9.95505e-16	5.57483e-15	1	0	T	108618515	G	T	108618515	5	4	282	1	0	0	0	0	0	0	1	0	17503	956	33	2	696	2	WSCD2	12	108618515	Splice_Site	SNP	G	TCGA-CV-7104-01A-11D-2012-08	50596544	108618515	25233380	86	50481											
FAM101A	144347	broad.mit.edu	37	chr12	124798965	124798965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggagcactttccggaccaCcctgcactgcagcctgggcc	7	6	11	17	1	0	0	0	0	0	0	1	2	1	2	5	3	4	3	5	3	0	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:124798965C>A	ENST00000389727.3	+	3	545	c.545C>A	c.(544-546)aCc>aAc	p.T182N	FAM101A_ENST00000338359.4_Missense_Mutation_p.T101N|FAM101A_ENST00000546355.1_Missense_Mutation_p.T101N|FAM101A_ENST00000324038.3_Missense_Mutation_p.T101N			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	182										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		TTCCGGACCACCCTGCACTGC	0.706													26	59					7.33532e-06	3.74797e-05	1	0	A	124798965	C	A	124798965	3	1	282	1	0	0	0	0	1	0	0	0	5421	507	18	4	308	4	FAM101A	12	124798965	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	16180450	124798965	9052930	87	50482											
TSC22D1	8848	broad.mit.edu	37	chr13	45010654	45010654	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttacctattatcaagtctCacagaagcgttttcagtccc	11	14	5	11	1	3	1	3	0	1	1	5	1	4	1	2	0	2	1	2	0	5	6			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr13:45010654C>T	ENST00000261489.2	-	1	327	c.111G>A	c.(109-111)gtG>gtA	p.V37V	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000458659.2_Intron	NM_006022.3	NP_006013.1	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	832					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TATCAAGTCTCACAGAAGCGT	0.383													28	158					0	0	0	0	T	45010654	C	T	45010654	2	4	282	1	0	0	0	0	0	0	0	1	16702	813	29	2		2	TSC22D1	13	45010654	Silent	SNP	C	TCGA-CV-7104-01A-11D-2012-08		45010654	70159224	88	50483											
POTEG	404785	broad.mit.edu	37	chr14	19553628	19553628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgccactgcttcccctGgtgcagggggagcagcaaga	7	6	15	13	1	0	1	0	0	0	1	1	2	1	2	4	3	5	4	4	3	1	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr14:19553628G>T	ENST00000409832.3	+	1	264	c.212G>T	c.(211-213)tGg>tTg	p.W71L		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	71										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCTTCCCCTGGTGCAGGGGG	0.587													94	950					1.79293e-35	1.09135e-34	1	0	T	19553628	G	T	19553628	3	4	282	1	0	0	0	0	1	0	0	0	12338	1357	47	4	214	4	POTEG	14	19553628	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08		19553628	87795912	89	50484											
HEATR5A	25938	broad.mit.edu	37	chr14	31814337	31814337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taataagggcattcaaacagCgaccaaggctttggtgaact	14	9	10	8	1	1	1	1	1	0	0	1	2	1	1	1	3	3	2	1	3	5	4			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr14:31814337C>T	ENST00000543095.2	-	20	3198	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H	HEATR5A_ENST00000439727.1_Missense_Mutation_p.R712H|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R999H|HEATR5A_ENST00000404677.3_Missense_Mutation_p.R1005H|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R999H	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	999							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ATTCAAACAGCGACCAAGGCT	0.388													35	111					0	0	0	0	T	31814337	C	T	31814337	3	4	282	1	0	0	0	0	1	0	0	0	7081	768	27	1	3194	1	HEATR5A	14	31814337	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	12260709	31814337	75535203	90	50485											
TXNDC16	57544	broad.mit.edu	37	chr14	53010231	53010231	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtaaaaaatgcacattatGacaaaagagatcccaactct	19	9	5	8	0	1	2	0	1	1	1	2	3	2	2	1	0	2	2	1	0	7	2			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr14:53010231G>C	ENST00000281741.4	-	3	416	c.45C>G	c.(43-45)gtC>gtG	p.V15V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	15					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGCACATTATGACAAAAGAGA	0.378													16	50					0	0	0	0	C	53010231	G	C	53010231	2	2	282	1	0	0	0	0	0	0	0	1	16891	1277	45	2		2	TXNDC16	14	53010231	Silent	SNP	G	TCGA-CV-7104-01A-11D-2012-08	21195894	53010231	54339309	91	50486											
OR4N4	283694	broad.mit.edu	37	chr15	22382574	22382574	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgctgatcttaattttCtaccttatcatcctccctgg	6	19	5	11	0	3	1	1	1	2	0	5	1	5	1	3	1	2	1	3	1	3	6			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr15:22382574C>A	ENST00000328795.4	+	1	193	c.102C>A	c.(100-102)ttC>ttA	p.F34L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTTAATTTTCTACCTTATCA	0.423													67	98					2.36135e-34	1.42495e-33	1	0	A	22382574	C	A	22382574	3	1	282	1	0	0	0	0	1	0	0	0	11149	912	32	2	104	2	OR4N4	15	22382574	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08		22382574	80148818	92	50487											
TRIM69	140691	broad.mit.edu	37	chr15	45047401	45047401	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaagttggtagagaagattAagaagttacccttactcaag	16	10	9	6	0	1	3	1	0	0	3	1	4	1	3	1	1	2	3	1	1	8	5			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr15:45047401A>T	ENST00000559390.1	+	3	1238	c.310A>T	c.(310-312)Aag>Tag	p.K104*	TRIM69_ENST00000329464.4_Nonsense_Mutation_p.K104*|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558173.1_De_novo_Start_InFrame|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558329.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	104	Necessary for nuclear localization (By similarity).		K -> R (in dbSNP:rs17588988).		apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AGAGAAGATTAAGAAGTTACC	0.438													23	33					0	0	0	0	T	45047401	A	T	45047401	4	4	282	1	0	0	0	0	0	1	0	0	16637	363	13	5	316	5	TRIM69	15	45047401	Nonsense_Mutation	SNP	A	TCGA-CV-7104-01A-11D-2012-08	22664827	45047401	57483991	93	50488											
FAM81A	145773	broad.mit.edu	37	chr15	59806519	59806519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgaggaactcagtaacCagatattatctgcacggagt	13	10	10	8	1	2	2	1	1	1	1	2	4	2	4	1	2	3	3	1	2	4	4			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr15:59806519C>A	ENST00000288228.5	+	7	869	c.682C>A	c.(682-684)Cag>Aag	p.Q228K		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	228										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						ACTCAGTAACCAGATATTATC	0.299													16	28					0.000308642	0.00153227	1	0	A	59806519	C	A	59806519	3	1	282	1	0	0	0	0	1	0	0	0	5674	595	21	4	704	4	FAM81A	15	59806519	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	14759118	59806519	42724873	94	50489											
POLG	5428	broad.mit.edu	37	chr15	89864134	89864134	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatgcggccgtagttgaaGattttggcatgctcacggct	8	12	13	8	3	1	3	1	1	0	2	1	3	1	3	1	3	2	5	1	3	3	5			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr15:89864134G>A	ENST00000268124.5	-	18	3177	c.2844C>T	c.(2842-2844)atC>atT	p.I948I	POLG_ENST00000442287.2_Silent_p.I948I	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	948					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CGTAGTTGAAGATTTTGGCAT	0.557								DNA polymerases (catalytic subunits)					14	32					0	0	0	0	A	89864134	G	A	89864134	2	1	282	1	0	0	0	0	0	0	0	1	12272	932	33	2		2	POLG	15	89864134	Silent	SNP	G	TCGA-CV-7104-01A-11D-2012-08	30057615	89864134	12667258	95	50490											
OR2C1	4993	broad.mit.edu	37	chr16	3406177	3406177	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcgctactagttcagtcccCcaaatgctgatcaatttatg	10	14	6	11	1	2	1	2	1	0	0	4	1	3	1	2	0	2	3	2	0	5	6			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr16:3406177C>G	ENST00000304936.2	+	1	289	c.237C>G	c.(235-237)ccC>ccG	p.P79P		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTTCAGTCCCCCAAATGCTGA	0.547													56	44					0	0	0	0	G	3406177	C	G	3406177	2	3	282	1	0	0	0	0	0	0	0	1	11063	610	22	4		4	OR2C1	16	3406177	Silent	SNP	C	TCGA-CV-7104-01A-11D-2012-08		3406177	86948576	96	50491											
PAPD5	64282	broad.mit.edu	37	chr16	50259097	50259097	+	Frame_Shift_Del	DEL	T	T	-																															aatgaagcccttggaaaatgTagaagtaaaacctcggaatc																										TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr16:50259097delT	ENST00000357464.3	+	11	1419	c.1419delT	c.(1417-1419)tgfs	p.C473fs	PAPD5_ENST00000573002.1_Intron|PAPD5_ENST00000436909.3_Frame_Shift_Del_p.C552fs|PAPD5_ENST00000561678.1_Frame_Shift_Del_p.C442fs			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	443	Ser-rich.				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TTGGAAAATGTAGAAGTAAAA	0.393													11	26	---	---	---	---					-	50259097	T	-	50259097	7	5	282	1	0	1	0	1	0	0	0	0	11496	1644	57	0	1698	0	PAPD5	16	50259097	Frame_Shift_Del	DEL	T	TCGA-CV-7104-01A-11D-2012-08	46852920	50259097	40095656	97	50492											
SETD6	79918	broad.mit.edu	37	chr16	58552079	58552079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgaaccatatcctgacaAcacagatgacacagctgaca	15	8	7	11	0	0	5	0	4	0	1	1	5	1	5	2	0	3	2	2	0	3	2			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr16:58552079A>G	ENST00000394266.4	+	7	766	c.710A>G	c.(709-711)aAc>aGc	p.N237S	SETD6_ENST00000219315.4_Missense_Mutation_p.N306S|SETD6_ENST00000418480.1_Intron|SETD6_ENST00000310682.2_Missense_Mutation_p.N282S			Q8TBK2	SETD6_HUMAN	SET domain containing 6	306	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						TATCCTGACAACACAGATGAC	0.428													17	49					0	0	0	0	G	58552079	A	G	58552079	3	3	282	1	0	0	0	0	1	0	0	0	14222	43	2	5	939	5	SETD6	16	58552079	Missense_Mutation	SNP	A	TCGA-CV-7104-01A-11D-2012-08	8292982	58552079	31802674	98	50493											
HP	3240	broad.mit.edu	37	chr16	72094489	72094489	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcctgtggctgaccaagaCcaatgcataaggcattatga	12	9	10	10	0	0	3	0	2	0	1	0	3	0	3	3	2	2	3	3	2	4	2			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr16:72094489C>T	ENST00000355906.5	+	7	979	c.921C>T	c.(919-921)gaC>gaT	p.D307D	HP_ENST00000570083.1_Silent_p.D248D|HP_ENST00000398131.2_Silent_p.D248D|HP_ENST00000565574.1_Silent_p.D248D|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	307	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CTGACCAAGACCAATGCATAA	0.493													15	42					0	0	0	0	T	72094489	C	T	72094489	2	4	282	1	0	0	0	0	0	0	0	1	7377	506	18	4		4	HP	16	72094489	Silent	SNP	C	TCGA-CV-7104-01A-11D-2012-08	13542410	72094489	18260264	99	50494											
MBTPS1	8720	broad.mit.edu	37	chr16	84088086	84088086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtctttggcgggtgaacctGctgcatgagctgcgggcgct	4	10	17	10	3	1	2	0	2	1	0	1	2	1	2	1	4	5	4	1	4	1	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr16:84088086G>T	ENST00000343411.3	-	23	3622	c.3127C>A	c.(3127-3129)Cag>Aag	p.Q1043K		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	1043	Arg/Lys/Pro-rich (basic).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGGTGAACCTGCTGCATGAGC	0.642													7	26					0.000274275	0.00137138	1	0	T	84088086	G	T	84088086	3	4	282	1	0	0	0	0	1	0	0	0	9430	1328	46	4	35	4	MBTPS1	16	84088086	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	11993597	84088086	6266667	100	50495											
SMG6	23293	broad.mit.edu	37	chr17	2200598	2200598	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtagtcttccagtttgaacTtgtaagtaacctgcagcttc	9	15	8	9	0	1	1	0	1	1	0	3	1	2	1	2	0	4	6	2	0	4	7	rs143802482		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:2200598T>A	ENST00000544865.1	-	4	2507	c.1997A>T	c.(1996-1998)aAg>aTg	p.K666M	SMG6_ENST00000263073.5_Missense_Mutation_p.K697M			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	697					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAGTTTGAACTTGTAAGTAAC	0.358													34	93					0	0	0	0	A	2200598	T	A	2200598	3	1	282	1	0	0	0	0	1	0	0	0	14885	1609	56	5	2233	5	SMG6	17	2200598	Missense_Mutation	SNP	T	TCGA-CV-7104-01A-11D-2012-08		2200598	78994612	101	50496											
TP53	7157	broad.mit.edu	37	chr17	7579575	7579575	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcaaatcatccattgcttGggacggcaagggggactgta	11	9	12	9	1	2	0	2	0	0	0	3	2	3	2	1	4	1	3	1	4	3	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:7579575G>A	ENST00000420246.2	-	4	244	c.112C>T	c.(112-114)Caa>Taa	p.Q38*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q38*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q38*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	38	Interaction with HRMT1L2.|Transcription activation (acidic).				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q38*(8)|p.0?(8)|p.P36fs*4(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37fs*79(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCCATTGCTTGGGACGGCAAG	0.592		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			51	180					0	0	0	0	A	7579575	G	A	7579575	4	1	282	1	0	0	0	0	0	1	0	0	16476	1357	47	4	1190	4	TP53	17	7579575	Nonsense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	5378977	7579575	73615635	102	50497											
MYH4	4622	broad.mit.edu	37	chr17	10362627	10362627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagtcaatgaactcccactCgatgccttccttcttgtact	9	13	6	13	1	2	1	1	1	1	0	5	3	4	1	3	0	3	1	3	0	4	4			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:10362627C>T	ENST00000255381.2	-	15	1638	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	510	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AACTCCCACTCGATGCCTTCC	0.473													26	103					0	0	0	0	T	10362627	C	T	10362627	3	4	282	1	0	0	0	0	1	0	0	0	10107	893	31	1	4395	1	MYH4	17	10362627	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	2783052	10362627	70832583	103	50498											
GGNBP2	79893	broad.mit.edu	37	chr17	34945780	34945780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttaataaatactgccGgttaaatgatcacaagaggc	17	10	8	6	1	1	2	1	1	0	1	1	3	1	2	1	2	2	1	1	2	8	5			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:34945780G>A	ENST00000304718.4	+	14	2349	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	678					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AAATACTGCCGGTTAAATGAT	0.373													55	129					0	0	0	0	A	34945780	G	A	34945780	3	1	282	1	0	0	0	0	1	0	0	0	6410	1116	39	1	2083	1	GGNBP2	17	34945780	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	24583153	34945780	46249430	104	50499											
TADA2A	6871	broad.mit.edu	37	chr17	35800747	35800747	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaaaaactgctgacacAgccattccatttcactgtaa	15	9	6	11	0	1	1	1	1	0	0	2	2	2	1	2	0	4	3	2	0	4	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:35800747A>G	ENST00000394395.2	+	6	599	c.426A>G	c.(424-426)acA>acG	p.T142T	TADA2A_ENST00000586023.1_Silent_p.T142T|TADA2A_ENST00000225396.6_Silent_p.T142T|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000417170.1_Silent_p.T142T	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	142					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CTGCTGACACAGCCATTCCAT	0.423													5	37					0	0	0	0	G	35800747	A	G	35800747	2	3	282	1	0	0	0	0	0	0	0	1	15601	175	7	5		5	TADA2A	17	35800747	Silent	SNP	A	TCGA-CV-7104-01A-11D-2012-08	854967	35800747	45394463	105	50500											
STARD3	10948	broad.mit.edu	37	chr17	37817129	37817129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggggctgcgggcggcGtggtctccccaaggtgagtc	4	7	18	12	3	1	1	0	1	1	0	3	1	1	1	2	6	2	2	2	6	1	0			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:37817129G>A	ENST00000336308.5	+	12	1239	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	STARD3_ENST00000580611.1_Missense_Mutation_p.V315M|STARD3_ENST00000394250.4_Missense_Mutation_p.V323M|STARD3_ENST00000544210.2_Missense_Mutation_p.V341M	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	341	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGCGGGCGGCGTGGTCTCCCC	0.607													40	95					0	0	0	0	A	37817129	G	A	37817129	3	1	282	1	0	0	0	0	1	0	0	0	15347	1145	40	1	1076	1	STARD3	17	37817129	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	2016382	37817129	43378081	106	50501											
BPTF	2186	broad.mit.edu	37	chr17	65914934	65914934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcggccaaggctcctccagGaggagggactacacggacag	10	3	16	12	2	0	0	0	0	0	0	2	4	2	4	3	7	1	1	3	7	2	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:65914934G>T	ENST00000321892.4	+	14	5847	c.5786G>T	c.(5785-5787)gGa>gTa	p.G1929V	BPTF_ENST00000306378.6_Missense_Mutation_p.G1803V|BPTF_ENST00000424123.3_Missense_Mutation_p.G1790V|BPTF_ENST00000335221.5_Missense_Mutation_p.G1929V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1929					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCTCCTCCAGGAGGAGGGACT	0.493													33	73					8.16721e-17	4.6861e-16	1	0	T	65914934	G	T	65914934	3	4	282	1	0	0	0	0	1	0	0	0	1503	1174	41	2	5840	2	BPTF	17	65914934	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	28097805	65914934	15280276	107	50502											
THOP1	7064	broad.mit.edu	37	chr19	2810358	2810358	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggactttgtggaggcgccGtcgcagatgctggagaactg	7	8	17	9	4	0	2	0	0	0	2	1	5	0	4	1	4	2	2	1	4	1	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:2810358G>A	ENST00000307741.6	+	10	1715	c.1512G>A	c.(1510-1512)ccG>ccA	p.P504P	THOP1_ENST00000395212.4_Silent_p.P15P|THOP1_ENST00000586677.1_Silent_p.P383P|THOP1_ENST00000591149.1_3'UTR	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	504					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		TGGAGGCGCCGTCGCAGATGC	0.682													17	25					0	0	0	0	A	2810358	G	A	2810358	2	1	282	1	0	0	0	0	0	0	0	1	15965	1132	40	1		1	THOP1	19	2810358	Silent	SNP	G	TCGA-CV-7104-01A-11D-2012-08		2810358	56318625	108	50503											
MUC16	94025	broad.mit.edu	37	chr19	9048464	9048464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagaatcagagttggaataCttgtactgtttactccacta	14	13	7	7	0	1	2	1	0	0	2	2	3	2	3	1	1	3	3	1	1	7	7			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:9048464C>A	ENST00000397910.4	-	5	33370	c.33167G>T	c.(33166-33168)aGt>aTt	p.S11056I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11058	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						AGTTGGAATACTTGTACTGTT	0.498													30	118					7.26314e-15	4.03508e-14	1	0	A	9048464	C	A	9048464	3	1	282	1	0	0	0	0	1	0	0	0	10043	565	20	4	10676	4	MUC16	19	9048464	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	6238106	9048464	50080519	109	50504											
ZNF791	163049	broad.mit.edu	37	chr19	12734543	12734543	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttttgaggatgtgtctgtGagcttcagccaggaggagtg	7	12	16	6	0	2	2	1	2	1	0	2	5	2	5	1	3	2	2	1	3	0	3			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:12734543G>C	ENST00000343325.4	+	2	195	c.33G>C	c.(31-33)gtG>gtC	p.V11V	ZNF791_ENST00000446165.1_Silent_p.V11V|ZNF791_ENST00000458122.3_5'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ATGTGTCTGTGAGCTTCAGCC	0.443													4	132					0	0	0	0	C	12734543	G	C	12734543	2	2	282	1	0	0	0	0	0	0	0	1	18256	1277	45	2		2	ZNF791	19	12734543	Silent	SNP	G	TCGA-CV-7104-01A-11D-2012-08	3686079	12734543	46394440	110	50505											
TNPO2	30000	broad.mit.edu	37	chr19	12822400	12822400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtcaatttccgagtacttCatcccattcaccaagatggg	11	12	7	11	1	3	1	3	0	0	1	5	2	5	1	3	1	1	1	3	1	3	4			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:12822400C>T	ENST00000425528.1	-	11	1275	c.918G>A	c.(916-918)atG>atA	p.M306I	TNPO2_ENST00000441499.1_Missense_Mutation_p.M306I|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000450764.2_Missense_Mutation_p.M306I|TNPO2_ENST00000356861.5_Missense_Mutation_p.M306I|TNPO2_ENST00000588216.1_Missense_Mutation_p.M306I|TNPO2_ENST00000592287.1_Missense_Mutation_p.M306I			O14787	TNPO2_HUMAN	transportin 2	306					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCGAGTACTTCATCCCATTCA	0.592													7	25					0	0	0	0	T	12822400	C	T	12822400	3	4	282	1	0	0	0	0	1	0	0	0	16430	826	29	2	1835	2	TNPO2	19	12822400	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	87857	12822400	46306583	111	50506											
ZNF790	388536	broad.mit.edu	37	chr19	37309438	37309438	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattctggtgttgagcaaagTttgactcatgactaaaggtg	11	14	11	5	0	2	3	1	3	1	0	2	3	2	3	0	2	1	3	0	2	4	5			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:37309438T>A	ENST00000356725.4	-	5	1928	c.1808A>T	c.(1807-1809)aAc>aTc	p.N603I	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTGAGCAAAGTTTGACTCATG	0.323													34	94					0	0	0	0	A	37309438	T	A	37309438	3	1	282	1	0	0	0	0	1	0	0	0	18255	1725	60	5	106	5	ZNF790	19	37309438	Missense_Mutation	SNP	T	TCGA-CV-7104-01A-11D-2012-08	24487038	37309438	21819545	112	50507											
GRIN2D	2906	broad.mit.edu	37	chr19	48945466	48945466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgccacaatgacaaaatcGaggtgatgagcagcaagctg	14	7	11	9	1	1	3	0	3	1	0	2	4	1	3	1	1	4	3	1	1	4	0			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:48945466G>A	ENST00000263269.3	+	12	2588	c.2500G>A	c.(2500-2502)Gag>Aag	p.E834K		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	834						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TGACAAAATCGAGGTGATGAG	0.577													49	124					0	0	0	0	A	48945466	G	A	48945466	3	1	282	1	0	0	0	0	1	0	0	0	6832	1059	37	1	2542	1	GRIN2D	19	48945466	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08	11636028	48945466	10183517	113	50508											
ZBTB45	84878	broad.mit.edu	37	chr19	59028060	59028060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggaagagtgcaacgggCggccctggggtcttcacacc	9	5	16	11	2	2	1	1	0	1	1	2	2	2	2	2	6	2	1	2	6	3	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:59028060C>T	ENST00000594051.1	-	2	1461	c.981G>A	c.(979-981)ccG>ccA	p.P327P	ZBTB45_ENST00000354590.3_Silent_p.P327P|ZBTB45_ENST00000600990.1_Silent_p.P327P			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	327	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTGCAACGGGCGGCCCTGGGG	0.692													12	20					0	0	0	0	T	59028060	C	T	59028060	2	4	282	1	0	0	0	0	0	0	0	1	17641	755	27	1		1	ZBTB45	19	59028060	Silent	SNP	C	TCGA-CV-7104-01A-11D-2012-08	10082594	59028060	100923	114	50509											
ITPA	3704	broad.mit.edu	37	chr20	3193868	3193868	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttggtggcacagaaaatTgaccgtatgtctctgttttg	9	15	10	7	1	1	2	0	1	1	1	2	2	1	2	1	2	0	3	1	2	3	5			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr20:3193868T>G	ENST00000380113.3	+	2	312	c.120T>G	c.(118-120)atT>atG	p.I40M	ITPA_ENST00000455664.1_Missense_Mutation_p.I23M|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000399838.3_Intron	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	40					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						CACAGAAAATTGACCGTATGT	0.403													25	51					0	0	0	0	G	3193868	T	G	3193868	3	3	282	1	0	0	0	0	1	0	0	0	7968	1800	63	5	126	5	ITPA	20	3193868	Missense_Mutation	SNP	T	TCGA-CV-7104-01A-11D-2012-08		3193868	59831652	115	50510											
SLC32A1	140679	broad.mit.edu	37	chr20	37357005	37357005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagtcctgggggctgaCgctgcgctgcgcgctcgtcg	3	8	16	14	6	0	2	0	2	0	0	3	2	1	2	2	2	2	4	2	2	1	0			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr20:37357005C>T	ENST00000217420.1	+	2	1564	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	434					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGGGGGCTGACGCTGCGCTGC	0.682													14	41					0	0	0	0	T	37357005	C	T	37357005	3	4	282	1	0	0	0	0	1	0	0	0	14653	536	19	1	1307	1	SLC32A1	20	37357005	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08	34163137	37357005	25668515	116	50511											
INPP5J	27124	broad.mit.edu	37	chr22	31520883	31520883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacgcagccctaggaccctCggaaccaaggttggctctgg	9	6	13	13	2	1	0	0	0	1	0	2	3	1	2	3	5	3	3	3	5	4	2			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr22:31520883C>T	ENST00000331075.5	+	2	207	c.158C>T	c.(157-159)tCg>tTg	p.S53L	INPP5J_ENST00000400294.2_5'UTR|INPP5J_ENST00000404390.3_Missense_Mutation_p.S53L|INPP5J_ENST00000412277.2_5'UTR|INPP5J_ENST00000405300.1_5'UTR			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	53						cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CTAGGACCCTCGGAACCAAGG	0.572													11	34					0	0	0	0	T	31520883	C	T	31520883	3	4	282	1	0	0	0	0	1	0	0	0	7812	893	31	1	164	1	INPP5J	22	31520883	Missense_Mutation	SNP	C	TCGA-CV-7104-01A-11D-2012-08		31520883	19783683	117	50512											
EIF3L	51386	broad.mit.edu	37	chr22	38258977	38258977	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctcttgttttctttacaggGgggaccttccttggagcaga	6	15	11	9	0	2	1	0	0	2	1	4	3	3	3	2	4	2	2	2	4	1	7			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr22:38258977G>A	ENST00000412331.2	+	6	1019	c.435_splice	c.e6-1	p.G146_splice	EIF3L_ENST00000406934.1_Splice_Site_p.G48_splice|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Intron	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	146						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCTTTACAGGGGGGACCTTCC	0.383													19	48					0	0	0	0	A	38258977	G	A	38258977	5	1	282	1	0	0	0	0	0	0	1	0	5060	1246	43	4	459	4	EIF3L	22	38258977	Splice_Site	SNP	G	TCGA-CV-7104-01A-11D-2012-08	6738094	38258977	13045589	118	50513											
BCOR	54880	broad.mit.edu	37	chrX	39932420	39932420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtgtgtggtatcaacatggGatgcaccatgcccaacccca	10	8	10	13	1	1	0	1	0	0	0	1	1	1	1	4	2	4	2	4	2	3	1			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chrX:39932420G>T	ENST00000342274.4	-	4	2541	c.2179C>A	c.(2179-2181)Ccc>Acc	p.P727T	BCOR_ENST00000378455.4_Missense_Mutation_p.P727T|BCOR_ENST00000397354.3_Missense_Mutation_p.P727T|BCOR_ENST00000378444.4_Missense_Mutation_p.P727T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	727					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ATCAACATGGGATGCACCATG	0.582			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						30	56					6.38683e-12	3.46572e-11	1	0	T	39932420	G	T	39932420	3	4	282	1	0	0	0	0	1	0	0	0	1390	1174	41	2	3136	2	BCOR	23	39932420	Missense_Mutation	SNP	G	TCGA-CV-7104-01A-11D-2012-08		39932420	115338140	119	50514											
DGKK	139189	broad.mit.edu	37	chrX	50119800	50119800	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgagctaagtgctgcatctGggcatactcctcgtcagaga	9	9	11	12	2	2	1	1	0	1	1	4	3	3	1	2	1	4	4	2	1	2	2			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chrX:50119800G>A	ENST00000376025.2	-	0	3287							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCTGCATCTGGGCATACTCC	0.502													8	10					0	0	0	0	A	50119800	G	A	50119800	1	1	282	0	1	0	0	0	0	0	0	0	4509	1357	47	4		4	DGKK	23	50119800	RNA	SNP	G	TCGA-CV-7104-01A-11D-2012-08	10187380	50119800	105150760	120	50515											
AADACL4	343066	broad.mit.edu	37	chr1	12726525	12726525	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatgatgaggtcatcgctCagcttcctgaggccttcctg	7	11	11	12	1	2	4	2	3	0	1	5	4	4	4	3	2	1	2	3	2	0	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:12726525C>G	ENST00000376221.1	+	4	1003	c.1003C>G	c.(1003-1005)Cag>Gag	p.Q335E		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	335						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGTCATCGCTCAGCTTCCTGA	0.517													10	106					0	0	0	0	G	12726525	C	G	12726525	3	3	283	1	0	0	0	0	1	0	0	0	13	827	29	2	1017	2	AADACL4	1	12726525	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08		12726525	236524096	1	50516											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837210	12837210	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgaatgcctgctgtcagagtCggacctgaagcatctctctt	8	11	10	12	2	3	2	1	1	2	1	5	4	3	3	2	1	3	2	2	1	2	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:12837210C>G	ENST00000357726.4	+	3	947	c.920C>G	c.(919-921)tCg>tGg	p.S307W		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	307										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCAGAGTCGGACCTGAAG	0.557													45	127					0	0	0	0	G	12837210	C	G	12837210	3	3	283	1	0	0	0	0	1	0	0	0	12504	893	31	3	930	3	PRAMEF12	1	12837210	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	110685	12837210	236413411	2	50517											
PDPN	10630	broad.mit.edu	37	chr1	13936917	13936917	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagtgtaacaggcattcgCatcgaggatctgccaacttc	12	9	9	11	2	1	0	0	0	1	0	4	2	1	1	1	2	4	3	1	2	3	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:13936917C>A	ENST00000294489.6	+	3	806	c.465C>A	c.(463-465)cgC>cgA	p.R155R	PDPN_ENST00000513143.1_Silent_p.R37R|PDPN_ENST00000376057.4_Silent_p.R155R|PDPN_ENST00000475043.1_Silent_p.R37R|PDPN_ENST00000487038.1_Silent_p.R37R|PDPN_ENST00000376061.4_Silent_p.R37R|PDPN_ENST00000509009.1_Silent_p.R74R			Q86YL7	PDPN_HUMAN	podoplanin	79					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CAGGCATTCGCATCGAGGATC	0.473													4	66					0.00909568	0.00998741	1	0	A	13936917	C	A	13936917	2	1	283	1	0	0	0	0	0	0	0	1	11759	697	25	4		4	PDPN	1	13936917	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	1099707	13936917	235313704	3	50518											
PEF1	553115	broad.mit.edu	37	chr1	32098207	32098207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgagaagccgtagacatCgatgcggcctgacttggtct	8	9	14	10	3	1	3	0	2	1	2	2	5	1	3	2	3	2	2	2	3	2	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:32098207C>T	ENST00000373703.4	-	4	536	c.514G>A	c.(514-516)Gat>Aat	p.D172N		NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	172	EF-hand 2.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CCGTAGACATCGATGCGGCCT	0.557													14	32					0	0	0	0	T	32098207	C	T	32098207	3	4	283	1	0	0	0	0	1	0	0	0	11789	884	31	1	348	1	PEF1	1	32098207	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	18161290	32098207	217152414	4	50519											
SYDE2	84144	broad.mit.edu	37	chr1	85666170	85666170	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctggcggtctcctttGccactgcgtatcacagagga	6	11	10	14	2	2	1	1	0	1	1	4	2	3	2	4	3	2	1	4	3	1	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:85666170G>A	ENST00000341460.5	-	1	559	c.510C>T	c.(508-510)ggC>ggT	p.G170G		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	170					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GGTCTCCTTTGCCACTGCGTA	0.642													31	51					0	0	0	0	A	85666170	G	A	85666170	2	1	283	1	0	0	0	0	0	0	0	1	15527	1306	46	4		4	SYDE2	1	85666170	Silent	SNP	G	TCGA-CV-7177-01A-11D-2012-08	53567963	85666170	163584451	5	50520											
DENND2D	79961	broad.mit.edu	37	chr1	111730992	111730992	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcgttgatttgttctgcaGctgcaggagatataaaggcc	9	12	12	8	1	1	2	0	1	1	1	2	3	1	2	1	2	3	6	1	2	3	5			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:111730992G>C	ENST00000357640.4	-	11	1329	c.1099_splice	c.e11-1	p.T367_splice	DENND2D_ENST00000369752.5_Splice_Site_p.T364_splice	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	367										breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTGTTCTGCAGCTGCAGGAGA	0.483													20	44					0	0	0	0	C	111730992	G	C	111730992	5	2	283	1	0	0	0	0	0	0	1	0	4468	985	34	4	323	4	DENND2D	1	111730992	Splice_Site	SNP	G	TCGA-CV-7177-01A-11D-2012-08	26064822	111730992	137519629	6	50521											
LINGO4	339398	broad.mit.edu	37	chr1	151774300	151774300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccagggggctgagccttCgggctgggatggctgagatg	6	7	19	9	1	0	2	0	2	0	1	1	4	0	3	2	5	1	4	2	5	0	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:151774300C>T	ENST00000368820.3	-	2	1818	c.881G>A	c.(880-882)cGa>cAa	p.R294Q		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	294						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGAGCCTTCGGGCTGGGAT	0.622													22	56					0	0	0	0	T	151774300	C	T	151774300	3	4	283	1	0	0	0	0	1	0	0	0	8872	884	31	1	904	1	LINGO4	1	151774300	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	40043308	151774300	97476321	7	50522											
FLG	2312	broad.mit.edu	37	chr1	152285104	152285104	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtctgagtcttctgaaTgtccctcactgtcagtggcc	5	14	11	11	0	5	2	2	2	3	0	6	2	6	2	2	1	0	0	2	1	1	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:152285104T>A	ENST00000368799.1	-	3	2293	c.2258A>T	c.(2257-2259)cAt>cTt	p.H753L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	753	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTTCTGAATGTCCCTCACT	0.582									Ichthyosis				15	785					0	0	0	0	A	152285104	T	A	152285104	3	1	283	1	0	0	0	0	1	0	0	0	5967	1464	51	5	9931	5	FLG	1	152285104	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	510804	152285104	96965517	8	50523											
IQGAP3	128239	broad.mit.edu	37	chr1	156532415	156532415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgccctggatttcagcctGagttaggtagtggtcataga	9	13	12	7	0	2	2	2	1	0	1	2	3	2	3	2	3	2	2	2	3	3	5			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:156532415G>C	ENST00000361170.2	-	9	851	c.841C>G	c.(841-843)Cag>Gag	p.Q281E		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	281					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	p.Q281K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATTTCAGCCTGAGTTAGGTAG	0.507													49	135					0	0	0	0	C	156532415	G	C	156532415	3	2	283	1	0	0	0	0	1	0	0	0	7869	1299	45	2	4174	2	IQGAP3	1	156532415	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	4247311	156532415	92718206	9	50524											
OR10X1	128367	broad.mit.edu	37	chr1	158548862	158548862	+	Frame_Shift_Del	DEL	C	C	-																															tctcctgaggcttctggcttCaaataaacaatagatgcaaa																										TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:158548862delC	ENST00000368150.1	-	1	827	c.828delG	c.(826-828)ttfs	p.L276fs		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTTCTGGCTTCAAATAAACAA	0.493													11	130	---	---	---	---					-	158548862	C	-	158548862	7	5	283	1	0	1	0	1	0	0	0	0	10993	825	29	0	147	0	OR10X1	1	158548862	Frame_Shift_Del	DEL	C	TCGA-CV-7177-01A-11D-2012-08	2016447	158548862	90701759	10	50525											
CFHR4	10877	broad.mit.edu	37	chr1	196874379	196874379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattcttcaggatcaattaCatgtttgcaaaatggatggt	14	14	8	5	0	3	0	2	0	1	0	3	2	3	2	0	3	2	2	0	3	5	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:196874379C>A	ENST00000367416.2	+	3	532	c.395C>A	c.(394-396)aCa>aAa	p.T132K	CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GGATCAATTACATGTTTGCAA	0.328													5	94					3.59834e-05	4.14055e-05	1	0	A	196874379	C	A	196874379	3	1	283	1	0	0	0	0	1	0	0	0	3316	493	17	4		4	CFHR4	1	196874379	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	38325517	196874379	52376242	11	50526											
ATP2B4	493	broad.mit.edu	37	chr1	203678644	203678644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttccgtatgtacagcaaGggcgcctctgagatcatctt	8	11	11	11	2	3	1	1	1	2	1	4	2	4	1	2	2	2	4	2	2	3	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:203678644G>C	ENST00000357681.5	+	11	2896	c.1773G>C	c.(1771-1773)aaG>aaC	p.K591N	ATP2B4_ENST00000367218.3_Missense_Mutation_p.K591N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.K579N|ATP2B4_ENST00000341360.2_Missense_Mutation_p.K591N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.K591N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	591					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTACAGCAAGGGCGCCTCTG	0.557													7	74					0	0	0	0	C	203678644	G	C	203678644	3	2	283	1	0	0	0	0	1	0	0	0	1146	991	35	4	1811	4	ATP2B4	1	203678644	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	6804265	203678644	45571977	12	50527											
IL19	29949	broad.mit.edu	37	chr1	207010066	207010066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatactgatattgtgctcagTagacaaccacggtctcagga	13	10	9	9	1	2	2	2	1	1	1	3	3	2	3	1	2	3	2	1	2	5	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:207010066T>C	ENST00000270218.6	+	3	998	c.59T>C	c.(58-60)gTa>gCa	p.V20A	IL19_ENST00000340758.2_Missense_Mutation_p.V58A	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	20					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TTGTGCTCAGTAGACAACCAC	0.468													4	223					0	0	0	0	C	207010066	T	C	207010066	3	2	283	1	0	0	0	0	1	0	0	0	7702	1638	57	5	179	5	IL19	1	207010066	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	3331422	207010066	42240555	13	50528											
LYST	1130	broad.mit.edu	37	chr1	235972380	235972385	+	In_Frame_Del	DEL	TGTTAT	TGTTAT	-																															catacaacagcatattccaaTgttatgaacacccgatagga																										TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:235972380_235972385delTGTTAT	ENST00000389794.3	-	5	1907_1912	c.1733_1738delATAACA	c.(1732-1740)ctt>c	p.HNI578del	LYST_ENST00000389793.2_In_Frame_Del_p.HNI578del|LYST_ENST00000536965.1_In_Frame_Del_p.HNI578del			Q99698	LYST_HUMAN	lysosomal trafficking regulator	578					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATATTCCAATGTTATGAACACCCGA	0.442													7	134	---	---	---	---					-	235972385	TGTTAT	-	235972380	7	5	283	1	0	1	0	1	0	0	0	0	9193	1464	51	0	9863	0	LYST	1	235972380	In_Frame_Del	DEL	TGTTAT	TCGA-CV-7177-01A-11D-2012-08	28962314	235972380	13278241	14	50529											
OR2L2	26246	broad.mit.edu	37	chr1	248201955	248201955	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccatttgctttcctcTccactatcccatccgtataa	7	15	5	14	1	1	0	0	0	1	0	5	0	4	0	5	1	1	2	5	1	3	5			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:248201955T>C	ENST00000366479.2	+	1	482	c.386T>C	c.(385-387)cTc>cCc	p.L129P	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGCTTTCCTCTCCACTATCCC	0.433													6	179					0	0	0	0	C	248201955	T	C	248201955	3	2	283	1	0	0	0	0	1	0	0	0	11078	1551	54	5	388	5	OR2L2	1	248201955	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	12229575	248201955	1048666	15	50530											
EPAS1	2034	broad.mit.edu	37	chr2	46605175	46605175	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accgtgccccaggcagctgcCccgggcagcaccacccccag	7	2	11	21	2	0	0	0	0	0	0	0	0	0	0	8	2	4	4	8	2	0	0			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:46605175C>T	ENST00000263734.3	+	10	1902	c.1392C>T	c.(1390-1392)gcC>gcT	p.A464A		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	464					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGGCAGCTGCCCCGGGCAGCA	0.682													3	11					0	0	0	0	T	46605175	C	T	46605175	2	4	283	1	0	0	0	0	0	0	0	1	5188	610	22	4		4	EPAS1	2	46605175	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08		46605175	196594198	16	50531											
CCDC88A	55704	broad.mit.edu	37	chr2	55528370	55528370	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatcccgtactagaatcAtcactaacaccttgtggact	11	12	6	12	1	2	2	2	1	0	1	3	3	3	3	2	1	2	1	2	1	4	5			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:55528370A>T	ENST00000436346.1	-	28	5557	c.4716T>A	c.(4714-4716)gaT>gaA	p.D1572E	CCDC88A_ENST00000413716.2_Missense_Mutation_p.D1571E|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D1571E|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D1544E|CCDC88A_ENST00000422883.2_Missense_Mutation_p.D100E	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1572					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TACTAGAATCATCACTAACAC	0.308													7	24					0	0	0	0	T	55528370	A	T	55528370	3	4	283	1	0	0	0	0	1	0	0	0	2890	214	8	5	919	5	CCDC88A	2	55528370	Missense_Mutation	SNP	A	TCGA-CV-7177-01A-11D-2012-08	8923195	55528370	187671003	17	50532											
FBXO48	554251	broad.mit.edu	37	chr2	68691399	68691400	+	Frame_Shift_Del	DEL	AT	AT	-																															tatctgcatccattgggtacAtgattttttctggtaggcta																										TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:68691399_68691400delAT	ENST00000377957.2	-	4	816_817	c.409_410delAT	c.(409-411)gfs	p.M137fs		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	137										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CATTGGGTACATGATTTTTTCT	0.391													16	205	---	---	---	---					-	68691400	AT	-	68691399	7	5	283	1	0	1	0	1	0	0	0	0	5802	217	8	0	61	0	FBXO48	2	68691399	Frame_Shift_Del	DEL	AT	TCGA-CV-7177-01A-11D-2012-08	13163029	68691399	174507974	18	50533											
INPP4A	3631	broad.mit.edu	37	chr2	99156130	99156130	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcctactagaggaagaTgcagccaggtgaggccacat	13	6	12	10	0	0	3	0	1	0	2	1	4	1	4	3	3	4	2	3	3	4	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:99156130T>A	ENST00000074304.5	+	10	1203	c.810T>A	c.(808-810)gaT>gaA	p.D270E	INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000523221.1_Missense_Mutation_p.D270E|INPP4A_ENST00000545415.1_Missense_Mutation_p.D270E|INPP4A_ENST00000409540.3_Missense_Mutation_p.D270E|INPP4A_ENST00000409851.3_Missense_Mutation_p.D270E|INPP4A_ENST00000409016.3_Missense_Mutation_p.D270E	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	270					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TAGAGGAAGATGCAGCCAGGT	0.562													3	46					0	0	0	0	A	99156130	T	A	99156130	3	1	283	1	0	0	0	0	1	0	0	0	7805	1461	51	5	840	5	INPP4A	2	99156130	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	30464731	99156130	144043243	19	50534											
SCN3A	6328	broad.mit.edu	37	chr2	166032739	166032739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggaaggttctttccagcttCcaagtcactatttggctttg	7	16	9	9	0	2	0	1	0	1	0	4	1	4	1	2	3	1	3	2	3	3	6			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:166032739C>G	ENST00000360093.3	-	3	657	c.166G>C	c.(166-168)Gaa>Caa	p.E56Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.E56Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E56Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	56						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTTCCAGCTTCCAAGTCACTA	0.428													4	119					0	0	0	0	G	166032739	C	G	166032739	3	3	283	1	0	0	0	0	1	0	0	0	14005	864	30	2	6036	2	SCN3A	2	166032739	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	66876609	166032739	77166634	20	50535											
NFE2L2	4780	broad.mit.edu	37	chr2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggagaaattcacctgtctCttcatctagttgtaactgag	10	14	9	8	0	4	2	2	1	2	1	5	3	4	2	1	1	1	2	1	1	3	5			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			20	43					0	0	0	0	G	178098810	C	G	178098810	3	3	283	1	0	0	0	0	1	0	0	0	10438	922	32	2	1598	2	NFE2L2	2	178098810	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	12066071	178098810	65100563	21	50536											
MARS2	92935	broad.mit.edu	37	chr2	198571572	198571572	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgtgtccagctgtgtccgGcaaactaatggttttgtcca	7	12	11	11	2	0	0	0	0	0	0	3	0	3	0	4	2	2	3	4	2	2	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr2:198571572G>A	ENST00000282276.6	+	1	1486	c.1443G>A	c.(1441-1443)cgG>cgA	p.R481R	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	481					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GCTGTGTCCGGCAAACTAATG	0.542													4	136					0	0	0	0	A	198571572	G	A	198571572	2	1	283	1	0	0	0	0	0	0	0	1	9386	1190	42	4		4	MARS2	2	198571572	Silent	SNP	G	TCGA-CV-7177-01A-11D-2012-08	20472762	198571572	44627801	22	50537											
CD28	940	broad.mit.edu	37	chr2	204594418	204594418	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcccggaccttctaagcccTtttgggtgctggtggtggtt	3	15	13	10	1	1	0	0	0	1	0	2	1	2	1	3	5	2	2	3	5	1	6			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:204594418T>C	ENST00000374481.3	+	4	427	c.205T>C	c.(205-207)Ttt>Ctt	p.F69L	CD28_ENST00000324106.7_Missense_Mutation_p.F153L|CD28_ENST00000458610.2_Missense_Mutation_p.F167L|CD28_ENST00000374478.4_Missense_Mutation_p.F34L			P10747	CD28_HUMAN	CD28 molecule	153	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TTCTAAGCCCTTTTGGGTGCT	0.443													3	129					0	0	0	0	C	204594418	T	C	204594418	3	2	283	1	0	0	0	0	1	0	0	0	3022	1609	56	5	467	5	CD28	2	204594418	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	6022846	204594418	38604955	23	50538											
PTPRN	5798	broad.mit.edu	37	chr2	220161748	220161748	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctttttgatgttgcccTccccctgcgcggtggcacag	3	13	12	13	2	1	1	0	1	1	0	2	1	2	1	3	3	2	3	3	3	0	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:220161748T>C	ENST00000295718.2	-	15	2435	c.2195A>G	c.(2194-2196)gAg>gGg	p.E732G	PTPRN_ENST00000423636.2_Missense_Mutation_p.E642G|PTPRN_ENST00000409251.3_Missense_Mutation_p.E703G	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	732	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GATGTTGCCCTCCCCCTGCGC	0.637													3	117					0	0	0	0	C	220161748	T	C	220161748	3	2	283	1	0	0	0	0	1	0	0	0	12889	1551	54	5	780	5	PTPRN	2	220161748	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	15567330	220161748	23037625	24	50539											
GRM7	2917	broad.mit.edu	37	chr3	6903352	6903352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggaccagatcaacagtgatCccaacctactgcccaacgtg	12	7	8	14	1	1	2	1	1	0	1	2	3	2	3	4	1	5	0	4	1	4	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:6903352C>T	ENST00000486284.1	+	1	551	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	GRM7_ENST00000402647.2_Missense_Mutation_p.P93S|GRM7_ENST00000403881.1_Missense_Mutation_p.P93S|GRM7_ENST00000357716.4_Missense_Mutation_p.P93S|GRM7_ENST00000389336.4_Missense_Mutation_p.P93S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	93					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			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)	CAACAGTGATCCCAACCTACT	0.607													11	7					0	0	0	0	T	6903352	C	T	6903352	3	4	283	1	0	0	0	0	1	0	0	0	6852	855	30	2	279	2	GRM7	3	6903352	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08		6903352	191119078	25	50540											
USP19	10869	broad.mit.edu	37	chr3	49148936	49148936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttcactggatcttaccttCgggtcgggacaccctctcgc	5	12	9	15	3	3	0	1	0	2	0	6	2	3	2	2	3	1	0	2	3	1	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:49148936C>T	ENST00000453664.1	-	21	3496	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K	USP19_ENST00000417901.1_Missense_Mutation_p.E1072K|USP19_ENST00000398888.2_Missense_Mutation_p.E969K|USP19_ENST00000398892.3_Missense_Mutation_p.E1009K|USP19_ENST00000398896.1_Missense_Mutation_p.E777K|USP19_ENST00000398898.2_Missense_Mutation_p.E1009K|USP19_ENST00000434032.2_Missense_Mutation_p.E1070K	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	969					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCTTACCTTCGGGTCGGGAC	0.607													17	17					0	0	0	0	T	49148936	C	T	49148936	3	4	283	1	0	0	0	0	1	0	0	0	17146	893	31	1	1079	1	USP19	3	49148936	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	42245584	49148936	148873494	26	50541											
BBX	56987	broad.mit.edu	37	chr3	107497345	107497345	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactggaaatgtgtcctcaGaaccgactaaaaccagcaaa	17	6	8	10	1	1	2	1	0	0	2	2	4	2	3	3	1	3	1	3	1	5	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:107497345G>T	ENST00000415149.2	+	13	2509	c.2182G>T	c.(2182-2184)Gaa>Taa	p.E728*	BBX_ENST00000402543.1_Nonsense_Mutation_p.E728*|BBX_ENST00000416476.2_Missense_Mutation_p.Q391H|BBX_ENST00000406780.1_Nonsense_Mutation_p.E728*|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000325805.8_Nonsense_Mutation_p.E728*	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	728	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGTGTCCTCAGAACCGACTAA	0.438													5	71					3.59834e-05	4.14055e-05	1	0	T	107497345	G	T	107497345	4	4	283	1	0	0	0	0	0	1	0	0	1347	943	33	2	2220	2	BBX	3	107497345	Nonsense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	58348409	107497345	90525085	27	50542											
ADCY5	111	broad.mit.edu	37	chr3	123167254	123167254	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccgcgggcagagccccCgggggcatgggggtagccat	6	3	20	12	3	0	1	0	0	0	1	0	2	0	2	4	6	3	3	4	6	1	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chr3:123167254C>G	ENST00000462833.1	-	1	1351	c.139G>C	c.(139-141)Ggg>Cgg	p.G47R		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	47					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCAGAGCCCCCGGGGGCATGG	0.766													5	7					0	0	0	0	G	123167254	C	G	123167254	3	3	283	1	0	0	0	0	1	0	0	0	297	652	23	3	3730	3	ADCY5	3	123167254	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	15669909	123167254	74855176	28	50543											
PLXND1	23129	broad.mit.edu	37	chr3	129281955	129281955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccggggcttggcctcgatGttctcccgcagcagccactc	5	8	11	17	3	1	0	0	0	1	0	4	1	1	0	4	3	2	4	4	3	0	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:129281955G>T	ENST00000393239.1	-	26	4828	c.4650C>A	c.(4648-4650)aaC>aaA	p.N1550K	PLXND1_ENST00000324093.4_Missense_Mutation_p.N1550K			Q9Y4D7	PLXD1_HUMAN	plexin D1	1550					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGCCTCGATGTTCTCCCGCA	0.637													17	23					3.45872e-05	4.03517e-05	1	0	T	129281955	G	T	129281955	3	4	283	1	0	0	0	0	1	0	0	0	12199	1368	48	4	1171	4	PLXND1	3	129281955	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	6114701	129281955	68740475	29	50544											
AADAC	13	broad.mit.edu	37	chr3	151545495	151545495	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatttctatccaaatcactCatggtcagattctggagtga	11	14	7	9	0	5	2	3	1	2	1	6	3	6	3	1	2	0	0	1	2	3	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:151545495C>G	ENST00000232892.6	+	5	861	c.735C>G	c.(733-735)ctC>ctG	p.L245L	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	245					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCAAATCACTCATGGTCAGAT	0.363													19	58					0	0	0	0	G	151545495	C	G	151545495	2	3	283	1	0	0	0	0	0	0	0	1	10	813	29	2		2	AADAC	3	151545495	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	22263540	151545495	46476935	30	50545											
PLCH1	23007	broad.mit.edu	37	chr3	155200527	155200527	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttttccttgattttcacAccatgcagatcttgtgtggg	6	16	8	11	0	2	2	1	1	1	1	3	2	3	2	3	1	1	1	3	1	0	6			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:155200527A>G	ENST00000460012.1	-	23	3555	c.3198T>C	c.(3196-3198)ggT>ggC	p.G1066G	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.G1066G|PLCH1_ENST00000340059.7_Silent_p.G1104G|PLCH1_ENST00000334686.6_Silent_p.G1066G|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1104					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGATTTTCACACCATGCAGAT	0.473													49	170					0	0	0	0	G	155200527	A	G	155200527	2	3	283	1	0	0	0	0	0	0	0	1	12109	146	6	5		5	PLCH1	3	155200527	Silent	SNP	A	TCGA-CV-7177-01A-11D-2012-08	3655032	155200527	42821903	31	50546											
NLGN1	22871	broad.mit.edu	37	chr3	173997073	173997073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttatatggatatcctgaaGgcaaagatgttttgagagaa	15	13	10	3	0	0	4	0	2	0	2	1	6	1	5	1	2	0	2	1	2	6	6			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:173997073G>C	ENST00000457714.1	+	6	1711	c.1282G>C	c.(1282-1284)Ggc>Cgc	p.G428R	NLGN1_ENST00000401917.3_Missense_Mutation_p.G468R|NLGN1_ENST00000361589.4_Missense_Mutation_p.G428R|NLGN1_ENST00000545397.1_Missense_Mutation_p.G428R|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	445					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATATCCTGAAGGCAAAGATGT	0.343													6	90					0	0	0	0	C	173997073	G	C	173997073	3	2	283	1	0	0	0	0	1	0	0	0	10531	1000	35	4	1296	4	NLGN1	3	173997073	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	18796546	173997073	24025357	32	50547											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	65					0	0	0	0	A	178936091	G	A	178936091	3	1	283	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	4939018	178936091	19086339	33	50548											
UGT2B15	7366	broad.mit.edu	37	chr4	69513062	69513062	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcttcattggttggtcAtgatgaattcttgataattt	9	17	11	4	0	3	3	2	3	1	0	3	3	3	3	0	4	0	2	0	4	2	7			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr4:69513062A>G	ENST00000338206.5	-	6	1362	c.1353T>C	c.(1351-1353)caT>caC	p.H451H		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	451					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TTGGTTGGTCATGATGAATTC	0.388													21	103					0	0	0	0	G	69513062	A	G	69513062	2	3	283	1	0	0	0	0	0	0	0	1	17054	214	8	5		5	UGT2B15	4	69513062	Silent	SNP	A	TCGA-CV-7177-01A-11D-2012-08		69513062	121641214	34	50549											
WDFY3	23001	broad.mit.edu	37	chr4	85752750	85752750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaacaaaactgcacagtttCactaagatctaaaaaataaa	22	8	4	7	0	2	1	1	0	1	1	2	2	2	1	0	0	3	2	0	0	9	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr4:85752750C>T	ENST00000322366.6	-	8	992	c.585G>A	c.(583-585)gtG>gtA	p.V195V	WDFY3_ENST00000295888.4_Silent_p.V195V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	195						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGCACAGTTTCactaagatct	0.388													18	41					0	0	0	0	T	85752750	C	T	85752750	2	4	283	1	0	0	0	0	0	0	0	1	17366	813	29	2		2	WDFY3	4	85752750	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	16239688	85752750	105401526	35	50550											
SLC39A8	64116	broad.mit.edu	37	chr4	103226195	103226195	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcattctttcaaaaaagaaaAgtaggtaaaatccaccaaac	20	8	5	8	0	2	1	1	0	1	1	3	1	3	1	2	1	1	3	2	1	9	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr4:103226195A>T	ENST00000424970.2	-	5	941	c.626T>A	c.(625-627)cTt>cAt	p.L209H	SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000356736.4_Missense_Mutation_p.L209H|SLC39A8_ENST00000394833.2_Missense_Mutation_p.L209H	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	209						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AAAAAAGAAAAGTAGGTAAAA	0.348													6	32					0	0	0	0	T	103226195	A	T	103226195	3	4	283	1	0	0	0	0	1	0	0	0	14712	72	3	5	853	5	SLC39A8	4	103226195	Missense_Mutation	SNP	A	TCGA-CV-7177-01A-11D-2012-08	17473445	103226195	87928081	36	50551											
ARSJ	79642	broad.mit.edu	37	chr4	114823767	114823767	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccatacacttttgccagttGacaaggtgatccgttcattg	9	13	9	10	1	1	2	1	2	0	0	2	2	2	2	3	1	2	2	3	1	2	6			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr4:114823767G>C	ENST00000315366.7	-	2	2329	c.1463C>G	c.(1462-1464)tCa>tGa	p.S488*	ARSJ_ENST00000541197.1_Nonsense_Mutation_p.S488*	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	488						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTTGCCAGTTGACAAGGTGAT	0.512													33	61					0	0	0	0	C	114823767	G	C	114823767	4	2	283	1	0	0	0	0	0	1	0	0	999	1294	45	2	340	2	ARSJ	4	114823767	Nonsense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	11597572	114823767	76330509	37	50552											
ADAM29	11086	broad.mit.edu	37	chr4	175897109	175897109	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctagcattttctaccacgTttgaacatctggtatacaag	11	13	6	11	1	2	1	0	1	2	0	2	1	2	1	2	1	4	3	2	1	6	7			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr4:175897109T>A	ENST00000359240.3	+	5	1103	c.433T>A	c.(433-435)Ttt>Att	p.F145I	ADAM29_ENST00000514159.1_Missense_Mutation_p.F145I|ADAM29_ENST00000404450.4_Missense_Mutation_p.F145I|ADAM29_ENST00000445694.1_Missense_Mutation_p.F145I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	145					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCTACCACGTTTGAACATCT	0.383													16	44					0	0	0	0	A	175897109	T	A	175897109	3	1	283	1	0	0	0	0	1	0	0	0	247	1725	60	5	435	5	ADAM29	4	175897109	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	61073342	175897109	15257167	38	50553											
TTC23L	153657	broad.mit.edu	37	chr5	34845770	34845770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtagctcagctgattaagGaaaaaatggtaaaacaaaaa	22	7	8	4	0	1	1	1	1	0	0	1	2	1	2	0	2	3	4	0	2	10	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr5:34845770G>A	ENST00000505624.1	+	3	350	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	83							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GCTGATTAAGGAAAAAATGGT	0.358													3	28					0	0	0	0	A	34845770	G	A	34845770	3	1	283	1	0	0	0	0	1	0	0	0	16787	1175	41	2	253	2	TTC23L	5	34845770	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08		34845770	146069490	39	50554											
PWWP2A	114825	broad.mit.edu	37	chr5	159520157	159520157	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcttgggtgccatcttGccactccgcattttctcaag	5	13	11	12	1	2	0	1	0	2	0	4	0	3	0	3	3	2	2	3	3	1	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr5:159520157G>C	ENST00000456329.3	-	2	1534	c.1500C>G	c.(1498-1500)ggC>ggG	p.G500G	PWWP2A_ENST00000307063.7_Silent_p.G500G|PWWP2A_ENST00000523662.1_Silent_p.G500G	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	500										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGCCATCTTGCCACTCCGCA	0.537													5	21					0	0	0	0	C	159520157	G	C	159520157	2	2	283	1	0	0	0	0	0	0	0	1	12927	1306	46	4		4	PWWP2A	5	159520157	Silent	SNP	G	TCGA-CV-7177-01A-11D-2012-08	124674387	159520157	21395103	40	50555											
JARID2	3720	broad.mit.edu	37	chr6	15501599	15501599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtcaaggaagaggaggagGacaaaggcgtcctcaatgac	14	5	15	7	1	2	2	2	1	0	1	3	6	3	6	1	6	0	0	1	6	4	0			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:15501599G>A	ENST00000341776.2	+	8	2651	c.2407G>A	c.(2407-2409)Gac>Aac	p.D803N	JARID2_ENST00000397311.3_Missense_Mutation_p.D631N|JARID2_ENST00000474854.1_3'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.D765N	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	803					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGAGGAGGAGGACAAAGGCGT	0.587													5	27					0	0	0	0	A	15501599	G	A	15501599	3	1	283	1	0	0	0	0	1	0	0	0	7998	1174	41	2	2437	2	JARID2	6	15501599	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08		15501599	155613468	41	50556											
HIST1H3B	8358	broad.mit.edu	37	chr6	26032187	26032187	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgaggctttttcacgccGccggtagccggcgcgctctt	3	10	14	14	7	2	1	1	1	1	0	2	1	2	1	3	4	1	3	3	4	1	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:26032187G>T	ENST00000244661.2	-	1	101	c.102C>A	c.(100-102)ggC>ggA	p.G34G		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	34					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TTTTCACGCCGCCGGTAGCCG	0.627													16	138					4.7546e-09	5.87333e-09	1	0	T	26032187	G	T	26032187	2	4	283	1	0	0	0	0	0	0	0	1	7206	1074	38	3		3	HIST1H3B	6	26032187	Silent	SNP	G	TCGA-CV-7177-01A-11D-2012-08	10530588	26032187	145082880	42	50557											
SCAND3	114821	broad.mit.edu	37	chr6	28554410	28554410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcccaagtgtggtcttcttCtttaacctttactttgataa	9	18	5	9	0	3	1	0	1	3	0	4	1	4	1	2	1	2	0	2	1	4	8			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:28554410C>T	ENST00000452236.2	-	1	702	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	29					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGGTCTTCTTCTTTAACCTTT	0.502													18	45					0	0	0	0	T	28554410	C	T	28554410	3	4	283	1	0	0	0	0	1	0	0	0	13962	922	32	2	3908	2	SCAND3	6	28554410	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	2522223	28554410	142560657	43	50558											
PAQR8	85315	broad.mit.edu	37	chr6	52268776	52268776	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accctccagatcctcttcttCctggttagcgcttatttctt	5	17	5	14	1	3	1	0	0	3	1	6	1	6	1	4	1	1	2	4	1	2	6			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:52268776C>T	ENST00000442253.2	+	2	939	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PAQR8_ENST00000360726.3_Silent_p.F255F	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	255					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCTCTTCTTCCTGGTTAGCG	0.577													23	52					0	0	0	0	T	52268776	C	T	52268776	2	4	283	1	0	0	0	0	0	0	0	1	11512	854	30	2		2	PAQR8	6	52268776	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	23714366	52268776	118846291	44	50559											
FAM184A	79632	broad.mit.edu	37	chr6	119341142	119341142	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagtgtccattactttttaCcttctccagttctagaatct	8	17	6	10	0	3	1	0	0	3	1	5	2	4	2	3	1	2	1	3	1	4	7			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:119341142C>T	ENST00000338891.7	-	4	1776		c.e4+1		RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Splice_Site|FAM184A_ENST00000521531.1_Splice_Site|FAM184A_ENST00000368475.4_Splice_Site|FAM184A_ENST00000352896.5_Splice_Site	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTACTTTTTACCTTCTCCAGT	0.398													7	60					0	0	0	0	T	119341142	C	T	119341142	5	4	283	1	0	0	0	0	0	0	1	0	5553	521	18	4	2149	4	FAM184A	6	119341142	Splice_Site	SNP	C	TCGA-CV-7177-01A-11D-2012-08	67072366	119341142	51773925	45	50560											
TPD52L1	7164	broad.mit.edu	37	chr6	125541335	125541345	+	Splice_Site	DEL	TTCAGGTATGT	TTCAGGTATGT	-																															agagttaaaagcagagttagTtcaggtatgtttagtaatct																								rs111553148		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:125541335_125541345delTTCAGGTATGT	ENST00000534000.1	+	2	427_431	c.135_splice	c.e2+1	p.44_splice	TPD52L1_ENST00000368388.2_Splice_Site_p.44_splice|TPD52L1_ENST00000534199.1_Splice_Site_p.15_splice|TPD52L1_ENST00000304877.13_Splice_Site_p.44_splice|TPD52L1_ENST00000392482.2_Splice_Site_p.15_splice|TPD52L1_ENST00000527711.1_Splice_Site_p.44_splice|TPD52L1_ENST00000532429.1_Splice_Site_p.15_splice|TPD52L1_ENST00000524679.1_Splice_Site_p.15_splice|TPD52L1_ENST00000368402.5_Splice_Site_p.44_splice|TPD52L1_ENST00000528193.1_Splice_Site_p.44_splice	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	44					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GCAGAGTTAGTTCAGGTATGTTTAGTAATCT	0.355													9	78	---	---	---	---					-	125541345	TTCAGGTATGT	-	125541335	8	5	283	1	0	1	0	1	0	0	1	0	16493	1725	60	0	137	0	TPD52L1	6	125541335	Splice_Site	DEL	TTCAGGTATGT	TCGA-CV-7177-01A-11D-2012-08	6200193	125541335	45573732	46	50561											
LAMA2	3908	broad.mit.edu	37	chr6	129724979	129724979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaccagaatccttgatgagGctaaaaacatctccttcaat	14	10	5	12	0	2	3	1	2	1	1	4	3	3	3	4	1	1	1	4	1	5	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:129724979G>T	ENST00000421865.2	+	40	5789	c.5740G>T	c.(5740-5742)Gct>Tct	p.A1914S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1914	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTTGATGAGGCTAAAAACAT	0.398													12	26					2.31682e-05	2.72186e-05	1	0	T	129724979	G	T	129724979	3	4	283	1	0	0	0	0	1	0	0	0	8659	1203	42	4	5898	4	LAMA2	6	129724979	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	4183644	129724979	41390088	47	50562											
MAP3K4	4216	broad.mit.edu	37	chr6	161470492	161470492	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcaggcactctgtttgtgGttaaacatcacaaaagactt	12	12	9	8	0	2	1	1	0	1	1	2	1	2	1	0	2	2	4	0	2	4	3	rs111941258		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:161470492G>C	ENST00000392142.4	+	3	1336	c.1188G>C	c.(1186-1188)tgG>tgC	p.W396C	MAP3K4_ENST00000366920.2_Missense_Mutation_p.W396C|MAP3K4_ENST00000348824.7_Missense_Mutation_p.W396C|MAP3K4_ENST00000366919.2_Missense_Mutation_p.W396C	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	396					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCTGTTTGTGGTTAAACATCA	0.403													10	54					0	0	0	0	C	161470492	G	C	161470492	3	2	283	1	0	0	0	0	1	0	0	0	9321	1270	44	4	1198	4	MAP3K4	6	161470492	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	31745513	161470492	9644575	48	50563											
MIOS	54468	broad.mit.edu	37	chr7	7613368	7613368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagctggaaatgaagatcCacagctcaagtcactctggt	12	11	9	9	0	3	2	2	1	1	1	4	3	4	3	1	2	2	2	1	2	4	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:7613368C>T	ENST00000340080.4	+	4	1683	c.1262C>T	c.(1261-1263)cCa>cTa	p.P421L	MIOS_ENST00000405785.1_Missense_Mutation_p.P421L	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	421										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATGAAGATCCACAGCTCAAG	0.408													19	81					0	0	0	0	T	7613368	C	T	7613368	3	4	283	1	0	0	0	0	1	0	0	0	9658	594	21	4	1264	4	MIOS	7	7613368	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08		7613368	151525295	49	50564											
ADCY1	107	broad.mit.edu	37	chr7	45725669	45725669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccctgcgagtctacaCaccatgccctgctctgctgc	5	9	8	19	1	2	0	0	0	2	0	2	1	2	0	4	0	7	2	4	0	1	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:45725669C>T	ENST00000297323.7	+	13	2204	c.2182C>T	c.(2182-2184)Cac>Tac	p.H728Y		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	728					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CGAGTCTACACACCATGCCCT	0.637													16	61					0	0	0	0	T	45725669	C	T	45725669	3	4	283	1	0	0	0	0	1	0	0	0	292	478	17	4	2232	4	ADCY1	7	45725669	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	38112301	45725669	113412994	50	50565											
DDC	1644	broad.mit.edu	37	chr7	50611693	50611693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtacccgggctccacgtcagGgtagacctggcgtccctcaa	7	7	12	15	3	2	1	2	0	0	1	4	1	4	1	4	3	1	3	4	3	3	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:50611693G>T	ENST00000444124.2	-	2	291	c.91C>A	c.(91-93)Cct>Act	p.P31T	DDC_ENST00000431062.1_Missense_Mutation_p.P31T|DDC_ENST00000426377.1_Missense_Mutation_p.P31T|DDC_ENST00000357936.5_Missense_Mutation_p.P31T|DDC_ENST00000380984.4_Missense_Mutation_p.P31T	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	31					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TCCACGTCAGGGTAGACCTGG	0.567													28	253					1.61788e-16	2.01336e-16	1	0	T	50611693	G	T	50611693	3	4	283	1	0	0	0	0	1	0	0	0	4357	1232	43	4	1403	4	DDC	7	50611693	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	4886024	50611693	108526970	51	50566											
PDAP1	11333	broad.mit.edu	37	chr7	99002548	99002548	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcttgtatactgcctCgcccggcctttgtggcctcc	3	12	11	15	2	1	0	1	0	0	0	3	0	2	0	5	3	2	2	5	3	2	4	rs139029496		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:99002548C>A	ENST00000350498.3	-	2	322	c.42G>T	c.(40-42)gcG>gcT	p.A14A		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	14					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	TATACTGCCTCGCCCGGCCTT	0.632													16	56					0.000422831	0.000473571	1	0	A	99002548	C	A	99002548	2	1	283	1	0	0	0	0	0	0	0	1	11684	871	31	3		3	PDAP1	7	99002548	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	48390855	99002548	60136115	52	50567											
OR2A2	442361	broad.mit.edu	37	chr7	143806750	143806750	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtccagcactggcgattctCctctgtggactcttctctgt	4	14	10	13	1	4	0	0	0	4	0	7	2	5	1	2	3	1	1	2	3	0	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:143806750C>G	ENST00000408979.2	+	1	144	c.75C>G	c.(73-75)ctC>ctG	p.L25L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGGCGATTCTCCTCTGTGGAC	0.517													8	168					0	0	0	0	G	143806750	C	G	143806750	2	3	283	1	0	0	0	0	0	0	0	1	11048	842	30	2		2	OR2A2	7	143806750	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	44804202	143806750	15331913	53	50568											
ADAM28	10863	broad.mit.edu	37	chr8	24184140	24184140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctccttattctgttggcGttgttcaggtctgtatgatg	4	19	11	7	1	4	1	1	1	3	0	5	1	4	1	1	2	0	5	1	2	2	7	rs139736903	byFrequency	TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr8:24184140G>A	ENST00000265769.4	+	10	1074	c.964G>A	c.(964-966)Gtt>Att	p.V322I	ADAM28_ENST00000437154.2_Missense_Mutation_p.V322I|ADAM28_ENST00000540823.1_Missense_Mutation_p.V89I|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.V69I|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	322	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTCTGTTGGCGTTGTTCAGGT	0.338													4	118					0	0	0	0	A	24184140	G	A	24184140	3	1	283	1	0	0	0	0	1	0	0	0	246	1145	40	1	1002	1	ADAM28	8	24184140	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08		24184140	122179882	54	50569											
BRF2	55290	broad.mit.edu	37	chr8	37702008	37702008	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcccagtggatatccaTcagggagggttagggacact	9	9	14	9	0	1	0	1	0	0	0	3	3	3	3	2	4	1	2	2	4	2	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr8:37702008T>C	ENST00000220659.6	-	4	1380	c.1260A>G	c.(1258-1260)tgA>tgG	p.*420W	GPR124_ENST00000315215.7_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TGGATATCCATCAGGGAGGGT	0.488													15	44					0	0	0	0	C	37702008	T	C	37702008	4	2	283	1	0	0	0	0	0	0	0	0	1519	1448	50	5	3	5	BRF2	8	37702008	Nonstop_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	13517868	37702008	108662014	55	50570											
KHDRBS3	10656	broad.mit.edu	37	chr8	136554958	136554958	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagcgtttacaagaagAaaccttgacaaaaatgtcca	17	9	7	8	1	1	4	0	2	1	2	2	4	2	4	2	0	3	1	2	0	7	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr8:136554958A>T	ENST00000355849.5	+	3	679	c.269A>T	c.(268-270)gAa>gTa	p.E90V	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	90	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTACAAGAAGAAACCTTGACA	0.363													6	63					0	0	0	0	T	136554958	A	T	136554958	3	4	283	1	0	0	0	0	1	0	0	0	8199	246	9	5	279	5	KHDRBS3	8	136554958	Missense_Mutation	SNP	A	TCGA-CV-7177-01A-11D-2012-08	98852950	136554958	9809064	56	50571											
APBA1	320	broad.mit.edu	37	chr9	72082878	72082878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtcttcggggtcgcagggtCccggaactgtaacacataga	10	8	13	10	3	1	1	0	0	1	1	4	2	2	2	1	4	2	2	1	4	3	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr9:72082878C>T	ENST00000265381.4	-	5	1565	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	448	Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCGCAGGGTCCCGGAACTGT	0.557													65	154					0	0	0	0	T	72082878	C	T	72082878	3	4	283	1	0	0	0	0	1	0	0	0	757	855	30	2	1206	2	APBA1	9	72082878	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08		72082878	69130553	57	50572											
HSD17B3	3293	broad.mit.edu	37	chr9	99003167	99003167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatactttgtcattgcagtcGagacagcatatggggtcagc	10	11	12	8	1	2	1	2	0	0	1	3	3	2	1	0	2	4	2	0	2	2	4	rs28939085		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr9:99003167G>A	ENST00000375263.3	-	10	742	c.695C>T	c.(694-696)tCg>tTg	p.S232L	HSD17B3_ENST00000375262.2_Intron|HSD17B3_ENST00000464104.1_5'UTR	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	232			S -> L (in MPH; dbSNP:rs28939085).		androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	CATTGCAGTCGAGACAGCATA	0.433													13	50					0	0	0	0	A	99003167	G	A	99003167	3	1	283	1	0	0	0	0	1	0	0	0	7435	1059	37	1	245	1	HSD17B3	9	99003167	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	26920289	99003167	42210264	58	50573											
TNC	3371	broad.mit.edu	37	chr9	117808854	117808854	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctttttggtatctctgaTtttgagaacaaaattgtcga	10	17	8	6	1	1	2	0	2	1	1	3	4	1	2	0	1	2	2	0	1	4	6			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr9:117808854T>G	ENST00000350763.4	-	17	5371	c.4960A>C	c.(4960-4962)Atc>Ctc	p.I1654L	TNC_ENST00000535648.1_Missense_Mutation_p.I1199L|TNC_ENST00000542877.1_Missense_Mutation_p.I1291L|TNC_ENST00000346706.3_Missense_Mutation_p.I1108L|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.I1290L|TNC_ENST00000341037.4_Missense_Mutation_p.I1472L|TNC_ENST00000423613.2_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1654	Fibronectin type-III 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTATCTCTGATTTTGAGAACA	0.493													43	135					0	0	0	0	G	117808854	T	G	117808854	3	3	283	1	0	0	0	0	1	0	0	0	16364	1493	52	5	1693	5	TNC	9	117808854	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	18805687	117808854	23404577	59	50574											
PHF19	26147	broad.mit.edu	37	chr9	123632758	123632758	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagatgaggatctcattcagCggccctgatgtcttccctag	8	11	10	12	1	3	3	2	2	2	1	5	4	4	4	2	2	1	0	2	2	1	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr9:123632758C>T	ENST00000373896.3	-	4	579	c.327G>A	c.(325-327)ccG>ccA	p.P109P	PHF19_ENST00000312189.6_Silent_p.P109P	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCATTCAGCGGCCCTGATG	0.627													24	183					0	0	0	0	T	123632758	C	T	123632758	2	4	283	1	0	0	0	0	0	0	0	1	11901	755	27	1		1	PHF19	9	123632758	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	5823904	123632758	17580673	60	50575											
LCN1	3933	broad.mit.edu	37	chr9	138415134	138415134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggagaaaactgacgagccggGaaaatacacggccggtgagt	14	4	15	8	4	0	3	0	2	0	1	0	6	0	4	2	4	3	0	2	4	5	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr9:138415134G>A	ENST00000263598.2	+	3	338	c.278G>A	c.(277-279)gGa>gAa	p.G93E	LCN1_ENST00000371781.3_Missense_Mutation_p.G93E	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	93					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GACGAGCCGGGAAAATACACG	0.632													5	45					0	0	0	0	A	138415134	G	A	138415134	3	1	283	1	0	0	0	0	1	0	0	0	8733	1174	41	2	288	2	LCN1	9	138415134	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	14782376	138415134	2798297	61	50576											
LRRTM3	347731	broad.mit.edu	37	chr10	68687181	68687181	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttacggtctaactccctGagaaccatccctgtgcgaat	10	11	7	13	2	1	1	0	1	1	1	3	3	3	1	3	1	4	0	3	1	4	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr10:68687181G>A	ENST00000361320.4	+	2	1085	c.507G>A	c.(505-507)ctG>ctA	p.L169L	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	169						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTAACTCCCTGAGAACCATCC	0.488													27	90					0	0	0	0	A	68687181	G	A	68687181	2	1	283	1	0	0	0	0	0	0	0	1	9105	1277	45	2		2	LRRTM3	10	68687181	Silent	SNP	G	TCGA-CV-7177-01A-11D-2012-08		68687181	66847566	62	50577											
PSAP	5660	broad.mit.edu	37	chr10	73590951	73590951	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctccttgcatgaagcagAcatgttcggtttcggaagcc	9	12	10	10	2	1	2	0	1	1	1	4	3	1	3	2	2	3	4	2	2	3	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr10:73590951A>C	ENST00000394936.3	-	4	454	c.307T>G	c.(307-309)Tct>Gct	p.S103A	PSAP_ENST00000394934.1_Missense_Mutation_p.S103A			P07602	SAP_HUMAN	prosaposin	103	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CATGAAGCAGACATGTTCGGT	0.483													30	62					0	0	0	0	C	73590951	A	C	73590951	3	2	283	1	0	0	0	0	1	0	0	0	12722	275	10	5	1327	5	PSAP	10	73590951	Missense_Mutation	SNP	A	TCGA-CV-7177-01A-11D-2012-08	4903770	73590951	61943796	63	50578											
COMTD1	118881	broad.mit.edu	37	chr10	76993922	76993922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatgcgttcgtttaggtttCgcacacactcggccgccacg	6	10	12	13	6	0	0	0	0	0	0	3	1	0	1	2	3	1	4	2	3	1	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr10:76993922C>T	ENST00000372538.3	-	7	780	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	233						integral to membrane	O-methyltransferase activity			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					GTTTAGGTTTCGCACACACTC	0.682													23	58					0	0	0	0	T	76993922	C	T	76993922	3	4	283	1	0	0	0	0	1	0	0	0	3756	884	31	1	94	1	COMTD1	10	76993922	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	3402971	76993922	58540825	64	50579											
LDB3	11155	broad.mit.edu	37	chr10	88451696	88451696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtagacagcgcctctcccGtctaccaggctgtgattaag	8	9	10	14	3	2	2	0	1	2	1	3	2	2	2	4	1	2	2	4	1	3	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr10:88451696G>A	ENST00000429277.2	+	7	1082	c.937G>A	c.(937-939)Gtc>Atc	p.V313I	LDB3_ENST00000263066.6_Missense_Mutation_p.V198I|LDB3_ENST00000310944.6_Missense_Mutation_p.V245I|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000458213.2_Missense_Mutation_p.V198I|LDB3_ENST00000372056.4_Missense_Mutation_p.V313I|LDB3_ENST00000361373.4_Missense_Mutation_p.V245I|LDB3_ENST00000372066.3_Missense_Mutation_p.V198I	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	302						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CGCCTCTCCCGTCTACCAGGC	0.602													6	107					0	0	0	0	A	88451696	G	A	88451696	3	1	283	1	0	0	0	0	1	0	0	0	8750	1145	40	1	986	1	LDB3	10	88451696	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	11457774	88451696	47083051	65	50580											
MUC6	4588	broad.mit.edu	37	chr11	1026050	1026050	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaatacgaagcgctggccgtCgaaggtgatgacgtggccct	9	7	15	10	5	0	2	0	2	0	0	1	5	0	2	2	3	2	1	2	3	4	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:1026050C>G	ENST00000421673.2	-	21	2688	c.2638G>C	c.(2638-2640)Gac>Cac	p.D880H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	880	VWFD 3.				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)		CGCTGGCCGTCGAAGGTGATG	0.677													3	7					0	0	0	0	G	1026050	C	G	1026050	3	3	283	1	0	0	0	0	1	0	0	0	10050	884	31	3	4733	3	MUC6	11	1026050	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08		1026050	133980466	66	50581											
TRIM21	6737	broad.mit.edu	37	chr11	4406682	4406684	+	In_Frame_Del	DEL	AGA	AGA	-																															gccatggtcagtgatgttgtAgaaggagaccatgccagcct																										TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:4406682_4406684delAGA	ENST00000254436.7	-	7	1371_1373	c.1259_1261delTCT	c.(1258-1263)tac>t	p.FY420del	TRIM21_ENST00000543625.1_In_Frame_Del_p.FY420del	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	420	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GTGATGTTGTAGAAGGAGACCAT	0.532													7	12	---	---	---	---					-	4406684	AGA	-	4406682	7	5	283	1	0	1	0	1	0	0	0	0	16590	420	15	0	170	0	TRIM21	11	4406682	In_Frame_Del	DEL	AGA	TCGA-CV-7177-01A-11D-2012-08	3380632	4406682	130599834	67	50582											
INSC	387755	broad.mit.edu	37	chr11	15222416	15222416	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgccggcaggacagttTccggtgcttgtacccccagg	5	10	14	12	2	0	0	0	0	0	0	1	1	1	1	4	5	3	5	4	5	1	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:15222416T>G	ENST00000379554.3	+	7	927	c.881T>G	c.(880-882)tTc>tGc	p.F294C	INSC_ENST00000447214.2_Intron|INSC_ENST00000424273.1_Intron|INSC_ENST00000525218.1_Intron|INSC_ENST00000528567.1_Missense_Mutation_p.F247C|INSC_ENST00000379556.3_Missense_Mutation_p.F247C|INSC_ENST00000530161.1_Missense_Mutation_p.F247C	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	294					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CAGGACAGTTTCCGGTGCTTG	0.587													3	45					0	0	0	0	G	15222416	T	G	15222416	3	3	283	1	0	0	0	0	1	0	0	0	7817	1783	62	5	907	5	INSC	11	15222416	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	10815734	15222416	119784100	68	50583											
KCNA4	3739	broad.mit.edu	37	chr11	30033979	30033979	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgctgtcgcctcctcctccGactaccccggctgctctgag	3	9	9	20	4	1	1	0	1	1	0	5	2	4	1	7	1	2	3	7	1	1	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:30033979G>C	ENST00000328224.6	-	2	1480	c.247C>G	c.(247-249)Cgg>Ggg	p.R83G		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	83						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CTCCTCCTCCGACTACCCCGG	0.632													4	81					0	0	0	0	C	30033979	G	C	30033979	3	2	283	1	0	0	0	0	1	0	0	0	8058	1057	37	3	1718	3	KCNA4	11	30033979	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	14811563	30033979	104972537	69	50584											
LRRC4C	57689	broad.mit.edu	37	chr11	40137416	40137416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttagacaagtatacaaaagCtccattcgggatggtagtaa	15	11	9	6	1	0	1	0	0	0	1	2	2	1	2	1	2	2	4	1	2	8	7			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:40137416C>T	ENST00000278198.2	-	2	2390	c.427G>A	c.(427-429)Gct>Act	p.A143T	LRRC4C_ENST00000530763.1_Missense_Mutation_p.A143T|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A143T|LRRC4C_ENST00000527150.1_Missense_Mutation_p.A143T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	143					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TATACAAAAGCTCCATTCGGG	0.438													23	53					0	0	0	0	T	40137416	C	T	40137416	3	4	283	1	0	0	0	0	1	0	0	0	9072	797	28	4	1499	4	LRRC4C	11	40137416	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	10103437	40137416	94869100	70	50585											
VPS37C	55048	broad.mit.edu	37	chr11	60899313	60899313	+	Frame_Shift_Del	DEL	C	C	-																															taatacccaggccaggcaggCcccggcggtggtgggaaccc																										TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:60899313delC	ENST00000301765.5	-	5	1279	c.1047delG	c.(1045-1047)ggfs	p.G349fs		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	349	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GCCAGGCAGGCCCCGGCGGTG	0.697													2	4	---	---	---	---					-	60899313	C	-	60899313	7	5	283	1	0	1	0	1	0	0	0	0	17303	726	26	0	24	0	VPS37C	11	60899313	Frame_Shift_Del	DEL	C	TCGA-CV-7177-01A-11D-2012-08	20761897	60899313	74107203	71	50586											
SLC22A12	116085	broad.mit.edu	37	chr11	64359366	64359366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggagcgaggccgacaCggagccgtgtgtggatggct	7	6	18	10	4	0	0	0	0	0	0	0	5	0	3	2	5	3	2	2	5	0	0			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:64359366C>T	ENST00000377574.1	+	1	1085	c.338C>T	c.(337-339)aCg>aTg	p.T113M	SLC22A12_ENST00000336464.7_Missense_Mutation_p.T113M|SLC22A12_ENST00000377572.1_Missense_Mutation_p.T113M|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Missense_Mutation_p.T113M	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	113					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GAGGCCGACACGGAGCCGTGT	0.672													18	27					0	0	0	0	T	64359366	C	T	64359366	3	4	283	1	0	0	0	0	1	0	0	0	14531	536	19	1	340	1	SLC22A12	11	64359366	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	3460053	64359366	70647150	72	50587											
ZNF202	7753	broad.mit.edu	37	chr11	123597653	123597653	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgtatatcctccaaactCagatcttcctgctccagaca	10	12	5	14	0	2	2	1	0	1	2	6	2	6	2	4	0	2	2	4	0	3	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:123597653C>G	ENST00000336139.4	-	8	1361	c.999G>C	c.(997-999)ctG>ctC	p.L333L	ZNF202_ENST00000529691.1_Silent_p.L333L|ZNF202_ENST00000530393.1_Silent_p.L333L			O95125	ZN202_HUMAN	zinc finger protein 202	333					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCTCCAAACTCAGATCTTCCT	0.463													9	226					0	0	0	0	G	123597653	C	G	123597653	2	3	283	1	0	0	0	0	0	0	0	1	17858	813	29	2		2	ZNF202	11	123597653	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	59238287	123597653	11408863	73	50588											
WNK1	65125	broad.mit.edu	37	chr12	978050	978050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccagaatattccagtgattCctcacaaatcacttcttcag	12	12	4	13	0	4	2	3	1	1	1	6	2	6	2	3	0	0	0	3	0	3	5			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:978050C>T	ENST00000537687.1	+	9	3801	c.3158C>T	c.(3157-3159)tCc>tTc	p.S1053F	WNK1_ENST00000574564.1_Missense_Mutation_p.S352F|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.S1138F	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	808					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCAGTGATTCCTCACAAATC	0.488													6	244					0	0	0	0	T	978050	C	T	978050	3	4	283	1	0	0	0	0	1	0	0	0	17473	855	30	2	3451	2	WNK1	12	978050	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08		978050	132873845	74	50589											
SLCO1C1	53919	broad.mit.edu	37	chr12	20885884	20885884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcccttggaatattctctGgggggatagttatgaaaaaa	12	12	12	5	0	1	1	0	1	1	0	2	3	1	3	1	5	0	1	1	5	7	5			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:20885884G>T	ENST00000381552.1	+	10	1596	c.1228G>T	c.(1228-1230)Ggg>Tgg	p.G410W	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G292W|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G410W|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G361W|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G410W			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	410					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AATATTCTCTGGGGGGATAGT	0.383													16	74					3.52763e-06	4.26361e-06	1	0	T	20885884	G	T	20885884	3	4	283	1	0	0	0	0	1	0	0	0	14813	1348	47	4	1262	4	SLCO1C1	12	20885884	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	19907834	20885884	112966011	75	50590											
PPFIBP1	8496	broad.mit.edu	37	chr12	27824450	27824450	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaaaatcaaagttgacTcctaagccagagacttcatt	15	11	6	9	0	3	3	2	2	1	1	4	4	4	3	2	0	1	1	2	0	4	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:27824450T>G	ENST00000318304.8	+	14	1567	c.1284T>G	c.(1282-1284)acT>acG	p.T428T	PPFIBP1_ENST00000228425.6_Silent_p.T411T|PPFIBP1_ENST00000542629.1_Silent_p.T397T|PPFIBP1_ENST00000537927.1_Silent_p.T275T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	428					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAAAGTTGACTCCTAAGCCAG	0.343													7	71					0	0	0	0	G	27824450	T	G	27824450	2	3	283	1	0	0	0	0	0	0	0	1	12384	1538	54	5		5	PPFIBP1	12	27824450	Silent	SNP	T	TCGA-CV-7177-01A-11D-2012-08	6938566	27824450	106027445	76	50591											
KRT73	319101	broad.mit.edu	37	chr12	53007615	53007616	+	Frame_Shift_Del	DEL	GG	GG	-																															gatggacgtgtcgctgatgtGggactggatctgagcagtct																										TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:53007615_53007616delGG	ENST00000305748.3	-	5	874_875	c.840_841delCC	c.(838-843)tcacfs	p.SH280fs	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	280	Linker 12.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGCTGATGTGGGACTGGATCT	0.559													11	141	---	---	---	---					-	53007616	GG	-	53007615	7	5	283	1	0	1	0	1	0	0	0	0	8538	1348	47	0	801	0	KRT73	12	53007615	Frame_Shift_Del	DEL	GG	TCGA-CV-7177-01A-11D-2012-08	25183165	53007615	80844280	77	50592											
STAC3	246329	broad.mit.edu	37	chr12	57640658	57640659	+	Frame_Shift_Del	DEL	AC	AC	-																															cccagtgcgcagggtttcaaAcacaggatcattgcgattgg																										TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:57640658_57640659delAC	ENST00000332782.2	-	6	732_733	c.531_532delGT	c.(529-534)gtttfs	p.VF177fs	STAC3_ENST00000546246.2_5'UTR|STAC3_ENST00000554578.1_Frame_Shift_Del_p.VF138fs	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	177					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						AGGGTTTCAAACACAGGATCAT	0.51													52	151	---	---	---	---					-	57640659	AC	-	57640658	7	5	283	1	0	1	0	1	0	0	0	0	15331	43	2	0	590	0	STAC3	12	57640658	Frame_Shift_Del	DEL	AC	TCGA-CV-7177-01A-11D-2012-08	4633043	57640658	76211237	78	50593											
KIF5A	3798	broad.mit.edu	37	chr12	57975223	57975223	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccgtccggcctggccactaCccagcatcctcacccaccaa	8	5	6	22	2	1	0	1	0	0	0	3	0	3	0	8	2	2	1	8	2	2	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:57975223C>T	ENST00000455537.2	+	25	3055	c.2781C>T	c.(2779-2781)taC>taT	p.Y927Y	KIF5A_ENST00000286452.5_Silent_p.Y838Y	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	927	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTGGCCACTACCCAGCATCCT	0.547													9	72					0	0	0	0	T	57975223	C	T	57975223	2	4	283	1	0	0	0	0	0	0	0	1	8356	518	18	4		4	KIF5A	12	57975223	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	334565	57975223	75876672	79	50594											
BEST3	144453	broad.mit.edu	37	chr12	70048856	70048856	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caattaaaagagctggctgaGagctcatggggtctggactt	11	10	13	7	0	2	2	1	1	1	2	2	4	2	3	0	4	2	3	0	4	3	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:70048856G>C	ENST00000330891.5	-	10	2064	c.1838C>G	c.(1837-1839)tCt>tGt	p.S613C	BEST3_ENST00000488961.1_Missense_Mutation_p.S400C|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.S507C	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	613						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCTGGCTGAGAGCTCATGGG	0.488													18	32					0	0	0	0	C	70048856	G	C	70048856	3	2	283	1	0	0	0	0	1	0	0	0	1410	942	33	2	172	2	BEST3	12	70048856	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	12073633	70048856	63803039	80	50595											
BTBD11	121551	broad.mit.edu	37	chr12	108006645	108006645	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagctgacctgaatgtggAggtgagggtgcagaggccag	9	6	19	7	1	0	4	0	3	0	1	0	6	0	6	2	5	2	2	2	5	1	0			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:108006645A>G	ENST00000280758.5	+	6	2426	c.1899_splice	c.e6+1	p.E633_splice	BTBD11_ENST00000420571.2_Splice_Site_p.E633_splice|BTBD11_ENST00000357167.4_Splice_Site_p.E170_splice|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Splice_Site_p.E633_splice	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	633						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTGAATGTGGAGGTGAGGGTG	0.632													6	5					0	0	0	0	G	108006645	A	G	108006645	5	3	283	1	0	0	0	0	0	0	1	0	1547	318	11	5	2025	5	BTBD11	12	108006645	Splice_Site	SNP	A	TCGA-CV-7177-01A-11D-2012-08	37957789	108006645	25845250	81	50596											
JPH4	84502	broad.mit.edu	37	chr14	24040391	24040391	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcccttgcatcccagcctCatcctcagcctcatagccag	7	9	7	18	0	3	0	3	0	0	0	5	0	5	0	6	1	4	1	6	1	1	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr14:24040391C>G	ENST00000397118.3	-	6	2451	c.1549G>C	c.(1549-1551)Gag>Cag	p.E517Q	JPH4_ENST00000544177.1_Missense_Mutation_p.E182Q|JPH4_ENST00000356300.4_Missense_Mutation_p.E517Q	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	517					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		ATCCCAGCCTCATCCTCAGCC	0.647													18	164					0	0	0	0	G	24040391	C	G	24040391	3	3	283	1	0	0	0	0	1	0	0	0	8016	835	29	2	345	2	JPH4	14	24040391	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08		24040391	83309149	82	50597											
SERPINA9	327657	broad.mit.edu	37	chr14	94931144	94931144	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgggaggatggtttccagaTtgtaggaggcagaaatggaa	12	9	16	4	1	0	2	0	0	0	2	2	6	1	6	1	6	0	3	1	6	3	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr14:94931144T>C	ENST00000337425.5	-	4	1078	c.1004A>G	c.(1003-1005)aAt>aGt	p.N335S	SERPINA9_ENST00000424550.2_Missense_Mutation_p.N186S|SERPINA9_ENST00000298845.7_Missense_Mutation_p.N235S|SERPINA9_ENST00000448305.2_Missense_Mutation_p.N237S|SERPINA9_ENST00000380365.3_Missense_Mutation_p.N317S|SERPINA9_ENST00000546329.1_Missense_Mutation_p.N299S	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	317					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.N335S(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGTTTCCAGATTGTAGGAGGC	0.448													24	45					0	0	0	0	C	94931144	T	C	94931144	3	2	283	1	0	0	0	0	1	0	0	0	14182	1493	52	5	311	5	SERPINA9	14	94931144	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	70890753	94931144	12418396	83	50598											
AHNAK2	113146	broad.mit.edu	37	chr14	105408273	105408273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggaggtcagtggtcttgagGtccccctgcatggagggaat	7	9	16	9	1	2	1	1	1	1	0	3	4	3	4	2	6	1	1	2	6	1	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr14:105408273G>T	ENST00000333244.5	-	7	13634	c.13515C>A	c.(13513-13515)gaC>gaA	p.D4505E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4505						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGTCTTGAGGTCCCCCTGCA	0.612													7	264					8.12818e-05	9.28935e-05	1	0	T	105408273	G	T	105408273	3	4	283	1	0	0	0	0	1	0	0	0	415	1252	44	4	3876	4	AHNAK2	14	105408273	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	10477129	105408273	1941267	84	50599											
JAG2	3714	broad.mit.edu	37	chr14	105609208	105609208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaccgcggcccagatcctCgtcctcctcatcctccctga	5	9	6	21	3	2	2	2	1	0	1	8	2	7	2	7	1	0	0	7	1	0	0			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr14:105609208C>T	ENST00000331782.3	-	26	3944	c.3541G>A	c.(3541-3543)Gag>Aag	p.E1181K	JAG2_ENST00000347004.2_Missense_Mutation_p.E1143K	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1181					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCCAGATCCTCGTCCTCCTCA	0.701													19	13					0	0	0	0	T	105609208	C	T	105609208	3	4	283	1	0	0	0	0	1	0	0	0	7988	893	31	1	179	1	JAG2	14	105609208	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	200935	105609208	1740332	85	50600											
TJP1	7082	broad.mit.edu	37	chr15	30011211	30011211	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggcttgtttctctacGtatgggagttggggttcata	5	16	13	7	1	2	0	1	0	1	0	3	1	2	1	0	4	2	6	0	4	3	7			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr15:30011211G>A	ENST00000346128.6	-	21	3609	c.3135C>T	c.(3133-3135)taC>taT	p.Y1045Y	TJP1_ENST00000545208.2_Silent_p.Y965Y|TJP1_ENST00000356107.6_Silent_p.Y1045Y|TJP1_ENST00000400011.2_Silent_p.Y969Y	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1045					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GTTTCTCTACGTATGGGAGTT	0.502													73	172					0	0	0	0	A	30011211	G	A	30011211	2	1	283	1	0	0	0	0	0	0	0	1	16023	1140	40	1		1	TJP1	15	30011211	Silent	SNP	G	TCGA-CV-7177-01A-11D-2012-08		30011211	72520181	86	50601											
TRPM1	4308	broad.mit.edu	37	chr15	31294599	31294599	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttggtttcttccaggggaTaggaaatagtgccttctata	9	16	10	6	0	2	0	0	0	2	0	3	2	3	2	2	4	1	1	2	4	5	9			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr15:31294599T>C	ENST00000542188.1	-	27	4668	c.4355A>G	c.(4354-4356)tAt>tGt	p.Y1452C	TRPM1_ENST00000256552.6_Missense_Mutation_p.Y1435C|TRPM1_ENST00000397795.2_Missense_Mutation_p.Y1413C|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1413					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCCAGGGGATAGGAAATAGT	0.393													37	74					0	0	0	0	C	31294599	T	C	31294599	3	2	283	1	0	0	0	0	1	0	0	0	16680	1406	49	5	577	5	TRPM1	15	31294599	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	1283388	31294599	71236793	87	50602											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164140	85164140	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccggaaatcccacctcatCacacacgagaggacccacac	14	3	7	17	2	2	1	2	0	0	1	3	4	3	3	4	2	1	0	4	2	1	0			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr15:85164140C>T	ENST00000448803.2	+	3	1006	c.714C>T	c.(712-714)atC>atT	p.I238I	ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.I88I|ZSCAN2_ENST00000546148.1_Silent_p.I238I|ZSCAN2_ENST00000327179.6_Silent_p.I237I|ZSCAN2_ENST00000541040.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	238					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I238I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCCACCTCATCACACACGAGA	0.493													10	74					0	0	0	0	T	85164140	C	T	85164140	2	4	283	1	0	0	0	0	0	0	0	1	18323	816	29	2		2	ZSCAN2	15	85164140	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	53869541	85164140	17367252	88	50603											
VPS33B	26276	broad.mit.edu	37	chr15	91544674	91544674	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttggccagagaactgAaggcatcagtaatctttcct	10	12	8	11	0	3	2	1	1	2	1	5	3	5	2	3	2	1	2	3	2	3	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr15:91544674A>C	ENST00000333371.3	-	19	1777	c.1424T>G	c.(1423-1425)tTc>tGc	p.F475C	VPS33B_ENST00000535843.1_Missense_Mutation_p.F384C|VPS33B_ENST00000535906.1_Missense_Mutation_p.F448C	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	475					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CAGAGAACTGAAGGCATCAGT	0.463													7	65					0	0	0	0	C	91544674	A	C	91544674	3	2	283	1	0	0	0	0	1	0	0	0	17298	246	9	5	449	5	VPS33B	15	91544674	Missense_Mutation	SNP	A	TCGA-CV-7177-01A-11D-2012-08	6380534	91544674	10986718	89	50604											
NSMCE1	197370	broad.mit.edu	37	chr16	27237111	27237111	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttcagcattcgactggaaGtacttggccacgcagggtaa	10	9	13	9	2	1	0	1	0	0	0	2	2	1	1	1	4	2	5	1	4	3	5			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:27237111G>A	ENST00000361439.4	-	7	756	c.657C>T	c.(655-657)taC>taT	p.Y219Y	NSMCE1_ENST00000565384.1_5'UTR	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	219					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						TCGACTGGAAGTACTTGGCCA	0.612													20	48					0	0	0	0	A	27237111	G	A	27237111	2	1	283	1	0	0	0	0	0	0	0	1	10746	1024	36	4		4	NSMCE1	16	27237111	Silent	SNP	G	TCGA-CV-7177-01A-11D-2012-08		27237111	63117642	90	50605											
MMP2	4313	broad.mit.edu	37	chr16	55539340	55539340	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagcatcaaatccgacTggctaggctgctgagctggc	9	9	13	10	1	1	1	1	1	0	0	2	3	2	2	1	4	3	5	1	4	3	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:55539340T>C	ENST00000219070.4	+	13	2478	c.1969T>C	c.(1969-1971)Tgg>Cgg	p.W657R	MMP2_ENST00000437642.2_Missense_Mutation_p.W607R|MMP2_ENST00000570308.1_Missense_Mutation_p.W581R|MMP2_ENST00000543485.1_Missense_Mutation_p.W581R	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	657	Hemopexin-like 4.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CAAATCCGACTGGCTAGGCTG	0.567													8	175					0	0	0	0	C	55539340	T	C	55539340	3	2	283	1	0	0	0	0	1	0	0	0	9727	1580	55	5	2026	5	MMP2	16	55539340	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	28302229	55539340	34815413	91	50606											
NOB1	28987	broad.mit.edu	37	chr16	69782153	69782153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgaaacagccatggcagCgcaagatgtagctccgggcc	11	6	12	12	2	0	2	0	1	0	1	1	2	1	2	3	2	4	4	3	2	3	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:69782153C>T	ENST00000268802.5	-	7	835	c.806G>A	c.(805-807)cGc>cAc	p.R269H		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	269						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCATGGCAGCGCAAGATGTA	0.522													5	41					0	0	0	0	T	69782153	C	T	69782153	3	4	283	1	0	0	0	0	1	0	0	0	10581	768	27	1	444	1	NOB1	16	69782153	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	14242813	69782153	20572600	92	50607											
CNTNAP4	85445	broad.mit.edu	37	chr16	76572217	76572217	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttacaaagaatacctttCtgtgatcattgccaaaaatg	14	14	5	8	0	2	2	1	1	1	1	2	2	2	2	2	0	3	0	2	0	6	5			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:76572217C>G	ENST00000307431.8	+	20	3582	c.3197C>G	c.(3196-3198)tCt>tGt	p.S1066C	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S1070C|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S1018C|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S994C	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1067	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAATACCTTTCTGTGATCATT	0.358													17	125					0	0	0	0	G	76572217	C	G	76572217	3	3	283	1	0	0	0	0	1	0	0	0	3679	913	32	2	3287	2	CNTNAP4	16	76572217	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	6790064	76572217	13782536	93	50608											
JPH3	57338	broad.mit.edu	37	chr16	87724057	87724057	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcgttgggacttgaccttCtccccgccccagaaatcctt	6	11	8	16	2	1	2	0	1	1	1	3	3	2	3	6	1	1	1	6	1	1	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:87724057C>T	ENST00000284262.2	+	4	2333	c.2091C>T	c.(2089-2091)ttC>ttT	p.F697F	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	697					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ACTTGACCTTCTCCCCGCCCC	0.672													8	6					0	0	0	0	T	87724057	C	T	87724057	2	4	283	1	0	0	0	0	0	0	0	1	8015	912	32	2		2	JPH3	16	87724057	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	11151840	87724057	2630696	94	50609											
TP53	7157	broad.mit.edu	37	chr17	7578478	7578478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacgcgggtgccgggcgggGgtgtggaatcaacccacagc	7	4	19	11	4	1	0	1	0	0	0	1	2	1	2	2	6	3	0	2	6	2	0	rs137852790		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:7578478G>T	ENST00000420246.2	-	5	584	c.452C>A	c.(451-453)cCc>cAc	p.P151H	TP53_ENST00000445888.2_Missense_Mutation_p.P151H|TP53_ENST00000413465.2_Missense_Mutation_p.P151H|TP53_ENST00000455263.2_Missense_Mutation_p.P151H|TP53_ENST00000269305.4_Missense_Mutation_p.P151H|TP53_ENST00000359597.4_Missense_Mutation_p.P151H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGGGCGGGGGTGTGGAATC	0.607		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			39	24					4.07013e-28	5.14122e-28	1	0	T	7578478	G	T	7578478	3	4	283	1	0	0	0	0	1	0	0	0	16476	1232	43	4	846	4	TP53	17	7578478	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08		7578478	73616732	95	50610											
MYH8	4626	broad.mit.edu	37	chr17	10298660	10298660	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcagctggtcaatttcCtcatccttttctgcgatttt	5	19	5	12	1	5	0	3	0	2	0	7	1	7	0	2	1	2	1	2	1	1	6			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:10298660C>G	ENST00000403437.2	-	34	4846	c.4752G>C	c.(4750-4752)gaG>gaC	p.E1584D	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1584					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGTCAATTTCCTCATCCTTTT	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				10	58					0	0	0	0	G	10298660	C	G	10298660	3	3	283	1	0	0	0	0	1	0	0	0	10111	680	24	4	1089	4	MYH8	17	10298660	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	2720182	10298660	70896550	96	50611											
CCL23	6368	broad.mit.edu	37	chr17	34340342	34340342	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgtcgccccttcttggtGaggaagctagggaacaaggg	11	7	14	9	2	1	1	0	1	1	0	2	3	1	3	2	4	3	1	2	4	5	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:34340342G>T	ENST00000293280.2	-	4	379	c.309C>A	c.(307-309)ctC>ctA	p.L103L	CCL23_ENST00000591423.1_Silent_p.L86L	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	86					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	CCTTCTTGGTGAGGAAGCTAG	0.542													9	15					7.48243e-07	9.10904e-07	1	0	T	34340342	G	T	34340342	2	4	283	1	0	0	0	0	0	0	0	1	2922	1277	45	2		2	CCL23	17	34340342	Silent	SNP	G	TCGA-CV-7177-01A-11D-2012-08	24041682	34340342	46854868	97	50612											
TTC25	83538	broad.mit.edu	37	chr17	40093075	40093075	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttacaccccaccaagggaGagcccaagtggaaggcctcg	11	5	11	14	1	1	1	0	0	1	1	2	3	1	2	5	3	2	0	5	3	4	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:40093075G>A	ENST00000591658.1	+	0	588							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CACCAAGGGAGAGCCCAAGTG	0.522													26	68					0	0	0	0	A	40093075	G	A	40093075	1	1	283	0	1	0	0	0	0	0	0	0	16789	943	33	2		2	TTC25	17	40093075	RNA	SNP	G	TCGA-CV-7177-01A-11D-2012-08	5752733	40093075	41102135	98	50613											
TBX21	30009	broad.mit.edu	37	chr17	45820480	45820480	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactcccccaacacaggagcGcactggatgcgccaggaagt	11	4	12	14	2	0	0	0	0	0	0	1	4	1	3	3	3	3	1	3	3	2	0			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:45820480G>A	ENST00000177694.1	+	3	901	c.690G>A	c.(688-690)gcG>gcA	p.A230A		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	230					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACACAGGAGCGCACTGGATGC	0.552													34	56					0	0	0	0	A	45820480	G	A	45820480	2	1	283	1	0	0	0	0	0	0	0	1	15751	1074	38	1		1	TBX21	17	45820480	Silent	SNP	G	TCGA-CV-7177-01A-11D-2012-08	5727405	45820480	35374730	99	50614											
GIP	2695	broad.mit.edu	37	chr17	47041687	47041687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcactcattcttcttccccTtttgggccagcagccagttc	5	14	6	16	0	4	0	2	0	2	0	6	0	5	0	4	1	2	2	4	1	0	6			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:47041687T>C	ENST00000357424.2	-	3	342	c.242A>G	c.(241-243)aAg>aGg	p.K81R		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	81					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						CTTCTTCCCCTTTTGGGCCAG	0.562													3	119					0	0	0	0	C	47041687	T	C	47041687	3	2	283	1	0	0	0	0	1	0	0	0	6442	1609	56	5	235	5	GIP	17	47041687	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	1221207	47041687	34153523	100	50615											
TUBD1	51174	broad.mit.edu	37	chr17	57958324	57958324	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtactgatcttctaaattCtgtgtaacgaaagctcctaa	13	13	7	8	1	3	1	0	1	3	0	4	3	4	1	1	0	3	3	1	0	6	6			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:57958324C>T	ENST00000325752.3	-	4	745	c.468G>A	c.(466-468)caG>caA	p.Q156Q	TUBD1_ENST00000592426.1_Silent_p.Q156Q|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000394239.3_Silent_p.Q156Q|TUBD1_ENST00000376094.4_Silent_p.Q156Q|TUBD1_ENST00000340993.6_Silent_p.Q156Q|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000346141.6_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	156					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			CTTCTAAATTCTGTGTAACGA	0.383													21	93					0	0	0	0	T	57958324	C	T	57958324	2	4	283	1	0	0	0	0	0	0	0	1	16858	912	32	2		2	TUBD1	17	57958324	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	10916637	57958324	23236886	101	50616											
CASKIN2	57513	broad.mit.edu	37	chr17	73498721	73498721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcccttcggcctccccctCagcatccccctctgtggggc	2	9	10	20	1	2	0	1	0	1	0	5	0	4	0	6	4	1	1	6	4	0	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:73498721C>T	ENST00000321617.3	-	18	3020	c.2434G>A	c.(2434-2436)Gag>Aag	p.E812K	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E730K	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	812	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTCCCCCTCAGCATCCCCC	0.692													10	3					0	0	0	0	T	73498721	C	T	73498721	3	4	283	1	0	0	0	0	1	0	0	0	2692	835	29	2	1186	2	CASKIN2	17	73498721	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	15540397	73498721	7696489	102	50617											
TMC8	147138	broad.mit.edu	37	chr17	76134756	76134756	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgcccattggccagcGtgccctccactacctgggct	4	8	10	19	2	0	0	0	0	0	0	2	0	2	0	6	2	3	2	6	2	1	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:76134756G>C	ENST00000318430.5	+	14	2140	c.1766G>C	c.(1765-1767)cGt>cCt	p.R589P	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.R366P	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	589						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ATTGGCCAGCGTGCCCTCCAC	0.667													7	65					0	0	0	0	C	76134756	G	C	76134756	3	2	283	1	0	0	0	0	1	0	0	0	16085	1145	40	3	1816	3	TMC8	17	76134756	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	2636035	76134756	5060454	103	50618											
CBX2	84733	broad.mit.edu	37	chr17	77753183	77753183	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataacagctgggagccggagGagaacatcctggacccgagg	12	4	15	10	2	0	1	0	0	0	1	1	6	1	4	3	5	4	1	3	5	2	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:77753183G>T	ENST00000310942.4	+	3	243	c.139G>T	c.(139-141)Gag>Tag	p.E47*	CBX2_ENST00000269399.5_Nonsense_Mutation_p.E47*	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	47	Chromo.				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGCCGGAGGAGAACATCCT	0.632													19	12					8.00594e-06	9.60713e-06	1	0	T	77753183	G	T	77753183	4	4	283	1	0	0	0	0	0	1	0	0	2743	1175	41	2	149	2	CBX2	17	77753183	Nonsense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	1618427	77753183	3442027	104	50619											
RNF213	57674	broad.mit.edu	37	chr17	78348328	78348328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgaatacaaggctctccGtgatgctgtggccaaagctg	10	9	12	10	2	1	2	0	2	1	0	2	3	1	2	2	2	3	3	2	2	4	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:78348328G>A	ENST00000582970.1	+	50	13156	c.13013G>A	c.(13012-13014)cGt>cAt	p.R4338H	RNF213_ENST00000336301.6_Missense_Mutation_p.R2411H|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4387H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGCTCTCCGTGATGCTGTG	0.577													41	28					0	0	0	0	A	78348328	G	A	78348328	3	1	283	1	0	0	0	0	1	0	0	0	13562	1145	40	1	13526	1	RNF213	17	78348328	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	595145	78348328	2846882	105	50620											
DSG4	147409	broad.mit.edu	37	chr18	28968849	28968849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccacagatctattgccggGctctgaattcacggggtgaa	9	11	11	10	2	3	3	1	2	2	1	4	3	4	3	2	3	1	1	2	3	3	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr18:28968849G>A	ENST00000359747.4	+	5	414	c.385G>A	c.(385-387)Gct>Act	p.A129T	DSG4_ENST00000308128.4_Missense_Mutation_p.A129T|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	129	Cadherin 1.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTATTGCCGGGCTCTGAATTC	0.368													32	71					0	0	0	0	A	28968849	G	A	28968849	3	1	283	1	0	0	0	0	1	0	0	0	4815	1203	42	4	403	4	DSG4	18	28968849	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08		28968849	49108399	106	50621											
ANGPTL4	51129	broad.mit.edu	37	chr19	8436124	8436124	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtggcctctcccactccaGgcgagttctggctgggtctg	4	10	14	13	1	3	0	0	0	3	0	5	2	4	0	3	4	0	2	3	4	0	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:8436124G>A	ENST00000301455.2	+	6	928		c.e6-1		ANGPTL4_ENST00000393962.2_Splice_Site|ANGPTL4_ENST00000541807.1_Splice_Site	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4						angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TCCCACTCCAGGCGAGTTCTG	0.647													17	39					0	0	0	0	A	8436124	G	A	8436124	5	1	283	1	0	0	0	0	0	0	1	0	616	1014	35	4	779	4	ANGPTL4	19	8436124	Splice_Site	SNP	G	TCGA-CV-7177-01A-11D-2012-08		8436124	50692859	107	50622											
DOCK6	57572	broad.mit.edu	37	chr19	11313343	11313343	+	Frame_Shift_Del	DEL	G	G	-																															ctcatccaggtcaccgaagtGggcgccgtagaagcccacgc																										TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:11313343delG	ENST00000294618.7	-	42	5289	c.5278delC	c.(5278-5280)acfs	p.H1760fs	DOCK6_ENST00000586702.1_5'UTR|DOCK6_ENST00000319867.7_Frame_Shift_Del_p.H1099fs	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1760	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCACCGAAGTGGGCGCCGTAG	0.617													7	209	---	---	---	---					-	11313343	G	-	11313343	7	5	283	1	0	1	0	1	0	0	0	0	4727	1348	47	0	893	0	DOCK6	19	11313343	Frame_Shift_Del	DEL	G	TCGA-CV-7177-01A-11D-2012-08	2877219	11313343	47815640	108	50623											
NOTCH3	4854	broad.mit.edu	37	chr19	15272483	15272483	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagcagcttggcagcctCatagctgccctcgcgggcgg	7	6	13	15	3	1	0	1	0	0	0	2	0	1	0	2	3	6	4	2	3	2	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:15272483C>A	ENST00000263388.2	-	33	6031	c.5956G>T	c.(5956-5958)Gag>Tag	p.E1986*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1986					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TTGGCAGCCTCATAGCTGCCC	0.627													3	13					0.004672	0.00516379	1	0	A	15272483	C	A	15272483	4	1	283	1	0	0	0	0	0	1	0	0	10620	835	29	2	1013	2	NOTCH3	19	15272483	Nonsense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	3959140	15272483	43856500	109	50624											
ZNF626	199777	broad.mit.edu	37	chr19	20807482	20807482	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaaagctttgccacattCttcacatttgtagggtttct	9	17	6	9	0	3	0	1	0	2	0	3	0	3	0	1	1	2	3	1	1	3	7			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:20807482C>A	ENST00000601440.1	-	4	1347	c.1201G>T	c.(1201-1203)Gaa>Taa	p.E401*	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTGCCACATTCTTCACATTTG	0.398													22	70					2.27731e-05	2.69428e-05	1	0	A	20807482	C	A	20807482	4	1	283	1	0	0	0	0	0	1	0	0	18145	922	32	2	389	2	ZNF626	19	20807482	Nonsense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	5534999	20807482	38321501	110	50625											
ZNF208	7757	broad.mit.edu	37	chr19	22154781	22154781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagtgtgaattttcttatGttccataaggtttgatgacc	9	17	8	7	0	1	3	0	3	1	0	3	3	3	3	3	1	0	2	3	1	3	6			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:22154781G>T	ENST00000397126.4	-	4	3203	c.3055C>A	c.(3055-3057)Cat>Aat	p.H1019N	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTTCTTATGTTCCATAAGG	0.408													20	62					5.35267e-07	6.56385e-07	1	0	T	22154781	G	T	22154781	3	4	283	1	0	0	0	0	1	0	0	0	17861	1377	48	4	791	4	ZNF208	19	22154781	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	1347299	22154781	36974202	111	50626											
EID2	163126	broad.mit.edu	37	chr19	40030624	40030624	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgtgccggggccggctcCcgcctcccgcggcctacctc	1	6	14	20	5	0	0	0	0	0	0	3	0	2	0	7	5	2	2	7	5	1	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:40030624C>T	ENST00000390658.2	-	1	246	c.96G>A	c.(94-96)cgG>cgA	p.R32R		NM_153232.3	NP_694964.3	Q8N6I1	EID2_HUMAN	EP300 interacting inhibitor of differentiation 2	32					cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding			large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			GGGCCGGCTCCCGCCTCCCGC	0.751													15	23					0	0	0	0	T	40030624	C	T	40030624	2	4	283	1	0	0	0	0	0	0	0	1	5023	610	22	4		4	EID2	19	40030624	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	17875843	40030624	19098359	112	50627											
ZNF574	64763	broad.mit.edu	37	chr19	42584413	42584413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaggagagcggccctaccGgtgtggggactgtggcaagg	8	5	18	10	2	0	1	0	0	0	1	0	3	0	2	2	7	2	1	2	7	2	1	rs147085110		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:42584413G>A	ENST00000600245.1	+	2	2310	c.1655G>A	c.(1654-1656)cGg>cAg	p.R552Q	ZNF574_ENST00000359044.4_Missense_Mutation_p.R552Q|ZNF574_ENST00000222339.7_Missense_Mutation_p.R642Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CGGCCCTACCGGTGTGGGGAC	0.657													51	87					0	0	0	0	A	42584413	G	A	42584413	3	1	283	1	0	0	0	0	1	0	0	0	18101	1116	39	1	1657	1	ZNF574	19	42584413	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	2553789	42584413	16544570	113	50628											
TMEM145	284339	broad.mit.edu	37	chr19	42819348	42819348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaaatcggcagggatcctgGagacagatgtgaccttcctc	10	8	11	12	1	0	3	0	1	0	2	4	5	2	4	4	3	0	1	4	3	1	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:42819348G>A	ENST00000598766.1	+	7	586	c.586G>A	c.(586-588)Gag>Aag	p.E196K	TMEM145_ENST00000301204.3_Missense_Mutation_p.E172K			Q8NBT3	TM145_HUMAN	transmembrane protein 145	172						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				AGGGATCCTGGAGACAGATGT	0.532													18	40					0	0	0	0	A	42819348	G	A	42819348	3	1	283	1	0	0	0	0	1	0	0	0	16153	1175	41	2	540	2	TMEM145	19	42819348	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	234935	42819348	16309635	114	50629											
ZNF845	91664	broad.mit.edu	37	chr19	53855637	53855637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcacttatttaccatcAagcaatccatggtataggga	13	11	8	9	0	2	0	2	0	0	0	3	1	3	1	2	2	3	3	2	2	6	5			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:53855637A>G	ENST00000458035.1	+	4	1826	c.1709A>G	c.(1708-1710)cAa>cGa	p.Q570R	ZNF845_ENST00000595091.1_Missense_Mutation_p.Q570R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTTACCATCAAGCAATCCAT	0.398													4	41					0	0	0	0	G	53855637	A	G	53855637	3	3	283	1	0	0	0	0	1	0	0	0	18284	130	5	5	1719	5	ZNF845	19	53855637	Missense_Mutation	SNP	A	TCGA-CV-7177-01A-11D-2012-08	11036289	53855637	5273346	115	50630											
MBOAT7	79143	broad.mit.edu	37	chr19	54678113	54678113	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtaggcgctcagcagcatGgtccaggcgctcctgaggag	8	6	15	12	2	1	1	1	1	0	0	3	2	3	2	2	4	2	5	2	4	1	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:54678113G>A	ENST00000245615.1	-	8	1524	c.1044C>T	c.(1042-1044)acC>acT	p.T348T	MBOAT7_ENST00000431666.2_Silent_p.T275T|MBOAT7_ENST00000338624.6_Silent_p.T275T	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	348					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCAGCAGCATGGTCCAGGCGC	0.687													11	25					0	0	0	0	A	54678113	G	A	54678113	2	1	283	1	0	0	0	0	0	0	0	1	9427	1335	47	4		4	MBOAT7	19	54678113	Silent	SNP	G	TCGA-CV-7177-01A-11D-2012-08	822476	54678113	4450870	116	50631											
KIR2DL1	3802	broad.mit.edu	37	chr19	55284979	55284979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccaacttctccatcagtCgcatgacgcaagacctggca	11	7	9	14	2	2	2	1	1	1	1	4	2	2	2	3	2	1	3	3	2	2	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:55284979C>T	ENST00000336077.6	+	3	305	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R89C|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	89	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTCCATCAGTCGCATGACGCA	0.532													5	265					0	0	0	0	T	55284979	C	T	55284979	3	4	283	1	0	0	0	0	1	0	0	0	8368	884	31	1	275	1	KIR2DL1	19	55284979	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	606866	55284979	3844004	117	50632											
NLRP13	126204	broad.mit.edu	37	chr19	56424476	56424476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttcccaacccctgccCtccccaccaagactatcgtc	7	9	5	20	1	1	1	0	0	1	1	5	1	3	1	7	1	2	0	7	1	3	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:56424476C>T	ENST00000588751.1	-	5	731	c.707G>A	c.(706-708)aGg>aAg	p.R236K	NLRP13_ENST00000342929.3_Missense_Mutation_p.R236K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	236	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AACCCCTGCCCTCCCCACCAA	0.507													4	130					0	0	0	0	T	56424476	C	T	56424476	3	4	283	1	0	0	0	0	1	0	0	0	10545	681	24	4	2450	4	NLRP13	19	56424476	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	1139497	56424476	2704507	118	50633											
ATRN	8455	broad.mit.edu	37	chr20	3575209	3575209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagggcgtcaagggggacGagtgccagctgtgagtacca	10	5	16	10	2	1	1	1	1	0	0	1	3	1	2	3	3	3	2	3	3	3	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:3575209G>A	ENST00000262919.5	+	20	3474	c.3406G>A	c.(3406-3408)Gag>Aag	p.E1136K	ATRN_ENST00000446916.2_Missense_Mutation_p.E1136K	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1136	Laminin EGF-like 2.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CAAGGGGGACGAGTGCCAGCT	0.597													14	57					0	0	0	0	A	3575209	G	A	3575209	3	1	283	1	0	0	0	0	1	0	0	0	1210	1059	37	1	3484	1	ATRN	20	3575209	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08		3575209	59450311	119	50634											
ATRN	8455	broad.mit.edu	37	chr20	3605205	3605205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggacctggtacagttcttCgtgactttcttcaggtaatt	8	16	9	8	1	3	1	1	1	2	0	4	2	3	2	1	3	1	3	1	3	2	7			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:3605205C>T	ENST00000262919.5	+	25	3917	c.3849C>T	c.(3847-3849)ttC>ttT	p.F1283F		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1283					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TACAGTTCTTCGTGACTTTCT	0.388													34	197					0	0	0	0	T	3605205	C	T	3605205	2	4	283	1	0	0	0	0	0	0	0	1	1210	883	31	1		1	ATRN	20	3605205	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	29996	3605205	59420315	120	50635											
ASXL1	171023	broad.mit.edu	37	chr20	31023531	31023531	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatacagcctctgactttGaaggtcacctcacggaggac	10	8	11	12	2	3	2	2	2	1	0	3	5	3	5	2	4	2	0	2	4	2	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:31023531G>T	ENST00000375687.4	+	13	3440	c.3016G>T	c.(3016-3018)Gaa>Taa	p.E1006*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.E1001*	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1006					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTCTGACTTTGAAGGTCACCT	0.502			"F, N, Mis"		"MDS, CMML"								32	53					8.16721e-17	1.02395e-16	1	0	T	31023531	G	T	31023531	4	4	283	1	0	0	0	0	0	1	0	0	1070	1291	45	2	3072	2	ASXL1	20	31023531	Nonsense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	27418326	31023531	32001989	121	50636											
MYH7B	57644	broad.mit.edu	37	chr20	33589835	33589835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggagcgggcagacatggcgGaaacccaggccaacaagctg	13	2	15	11	2	0	1	0	0	0	1	0	3	0	3	2	5	4	2	2	5	3	0			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:33589835G>A	ENST00000262873.7	+	42	5979	c.5887G>A	c.(5887-5889)Gaa>Aaa	p.E1963K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1921						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGACATGGCGGAAACCCAGGC	0.672													14	62					0	0	0	0	A	33589835	G	A	33589835	3	1	283	1	0	0	0	0	1	0	0	0	10110	1175	41	2	6053	2	MYH7B	20	33589835	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	2566304	33589835	29435685	122	50637											
RALGAPB	57148	broad.mit.edu	37	chr20	37202933	37202933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggatgattgtcagcaggcGagctcttggtaaggtcttca	8	12	14	7	1	4	1	2	1	2	0	4	3	4	2	0	4	2	3	0	4	1	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:37202933G>A	ENST00000262879.6	+	29	4567	c.4283G>A	c.(4282-4284)cGa>cAa	p.R1428Q	RALGAPB_ENST00000397038.1_Missense_Mutation_p.R1207Q|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R1425Q|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R1428Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1428					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTCAGCAGGCGAGCTCTTGGT	0.358													9	154					0	0	0	0	A	37202933	G	A	37202933	3	1	283	1	0	0	0	0	1	0	0	0	13097	1058	37	1	4393	1	RALGAPB	20	37202933	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	3613098	37202933	25822587	123	50638											
OSBPL2	9885	broad.mit.edu	37	chr20	60835171	60835171	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctcaagagaacggaattCagaaacacaggtatgttctc	14	9	8	10	1	3	2	2	0	2	2	5	4	3	3	1	2	2	2	1	2	5	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:60835171C>G	ENST00000313733.3	+	3	374	c.172C>G	c.(172-174)Cag>Gag	p.Q58E	OSBPL2_ENST00000439951.2_Intron|OSBPL2_ENST00000358053.2_Missense_Mutation_p.Q46E	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	58					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GAACGGAATTCAGAAACACAG	0.453													18	58					0	0	0	0	G	60835171	C	G	60835171	3	3	283	1	0	0	0	0	1	0	0	0	11349	827	29	2	178	2	OSBPL2	20	60835171	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	23632238	60835171	2190349	124	50639											
SLC17A9	63910	broad.mit.edu	37	chr20	61594660	61594660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgtcctggcccaaagcCggccggtgtccaggcacaac	7	6	14	14	2	0	0	0	0	0	0	2	0	2	0	5	5	2	1	5	5	2	0			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:61594660C>T	ENST00000370349.3	+	7	850	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.R222W			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	222					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGCCCAAAGCCGGCCGGTGTC	0.637													19	42					0	0	0	0	T	61594660	C	T	61594660	3	4	283	1	0	0	0	0	1	0	0	0	14512	643	23	1	686	1	SLC17A9	20	61594660	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	759489	61594660	1430860	125	50640											
WDR4	10785	broad.mit.edu	37	chr21	44299570	44299570	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgccccgcaccaccaacgtCtgcccgcacaacgccagtcc	8	3	7	23	5	1	0	0	0	1	0	2	0	2	0	8	0	3	2	8	0	2	0			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr21:44299570C>G	ENST00000398208.2	-	1	95	c.36G>C	c.(34-36)caG>caC	p.Q12H	WDR4_ENST00000330317.2_Missense_Mutation_p.Q12H	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	12					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CCACCAACGTCTGCCCGCACA	0.682													37	60					0	0	0	0	G	44299570	C	G	44299570	3	3	283	1	0	0	0	0	1	0	0	0	17389	912	32	2	1246	2	WDR4	21	44299570	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08		44299570	3830325	126	50641											
TSSK2	23617	broad.mit.edu	37	chr22	19118994	19118994	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctacgcaaaagtcaaaTctgcctactctgagcgcctc	10	10	7	14	2	3	1	1	1	2	0	5	1	4	1	3	0	4	2	3	0	5	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr22:19118994T>C	ENST00000399635.2	+	1	674	c.82T>C	c.(82-84)Tct>Cct	p.S28P	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	28	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AAAAGTCAAATCTGCCTACTC	0.507													14	34					0	0	0	0	C	19118994	T	C	19118994	3	2	283	1	0	0	0	0	1	0	0	0	16764	1435	50	5	84	5	TSSK2	22	19118994	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08		19118994	32185572	127	50642											
TUBGCP6	85378	broad.mit.edu	37	chr22	50671941	50671941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtcaggtaaggctcctctCtgtggccaggggggctgcga	5	8	16	12	2	2	0	1	0	1	0	4	1	3	0	3	6	1	3	3	6	1	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr22:50671941C>T	ENST00000439308.2	-	3	1412	c.920G>A	c.(919-921)aGa>aAa	p.R307K	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.R307K	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	307					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGGCTCCTCTCTGTGGCCAGG	0.637													3	12					0	0	0	0	T	50671941	C	T	50671941	3	4	283	1	0	0	0	0	1	0	0	0	16866	913	32	2	4631	2	TUBGCP6	22	50671941	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	31552947	50671941	632625	128	50643											
SBF1	6305	broad.mit.edu	37	chr22	50897810	50897810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaggctactcgagtccgCctgggactggcctgggggag	5	7	16	13	2	0	0	0	0	0	0	3	3	2	2	4	5	1	1	4	5	1	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr22:50897810C>A	ENST00000380817.2	-	28	3883	c.3700G>T	c.(3700-3702)Gcg>Tcg	p.A1234S	SBF1_ENST00000348911.6_Missense_Mutation_p.A1235S|SBF1_ENST00000390679.3_Missense_Mutation_p.A1234S	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1234	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGAGTCCGCCTGGGACTGG	0.667													16	18					0.00316338	0.00351952	1	0	A	50897810	C	A	50897810	3	1	283	1	0	0	0	0	1	0	0	0	13944	739	26	4	2037	4	SBF1	22	50897810	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	225869	50897810	406756	129	50644											
FRMPD4	9758	broad.mit.edu	37	chrX	12734834	12734834	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacgcggaggacgaggaCgaggtgagctgcgaggagga	11	3	21	6	5	0	2	0	2	0	0	0	11	0	7	0	6	2	1	0	6	0	0			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:12734834C>T	ENST00000380682.1	+	15	2762	c.2256C>T	c.(2254-2256)gaC>gaT	p.D752D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	752					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGACGAGGACGAGGTGAGCT	0.582													6	142					0	0	0	0	T	12734834	C	T	12734834	2	4	283	1	0	0	0	0	0	0	0	1	6107	535	19	1		1	FRMPD4	23	12734834	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08		12734834	142535726	130	50645											
KDM6A	7403	broad.mit.edu	37	chrX	44949094	44949094	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgacctggagatttggtcTggataaatgcaggcactgtt	10	11	13	7	1	1	1	0	0	1	1	1	4	1	2	1	4	2	3	1	4	2	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:44949094T>A	ENST00000377967.4	+	25	3696	c.3655T>A	c.(3655-3657)Tgg>Agg	p.W1219R	KDM6A_ENST00000536777.1_Missense_Mutation_p.W1174R|KDM6A_ENST00000543216.1_Missense_Mutation_p.W1140R|KDM6A_ENST00000382899.4_Missense_Mutation_p.W1226R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1219	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGATTTGGTCTGGATAAATGC	0.408			"D, N, F, S"		"renal, oesophageal SCC, MM"								7	34					0	0	0	0	A	44949094	T	A	44949094	3	1	283	1	0	0	0	0	1	0	0	0	8189	1580	55	5	3753	5	KDM6A	23	44949094	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	32214260	44949094	110321466	131	50646											
CCDC120	90060	broad.mit.edu	37	chrX	48921913	48921913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaacaggagctggctcttGaggccctggaacgcgaggtg	8	6	15	12	2	1	1	0	1	1	0	1	4	1	3	2	5	3	2	2	5	2	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	77a82ab0-ef13-4632-aa37-ebe89f111306	g.chrX:48921913G>A	ENST00000376396.3	+	6	556	c.337G>A	c.(337-339)Gag>Aag	p.E113K	CCDC120_ENST00000597275.1_Missense_Mutation_p.E113K|CCDC120_ENST00000536628.2_Missense_Mutation_p.E101K|CCDC120_ENST00000496529.2_Missense_Mutation_p.E113K|CCDC120_ENST00000422185.2_Missense_Mutation_p.E113K|CCDC120_ENST00000603986.1_Missense_Mutation_p.E148K	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	113							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						GCTGGCTCTTGAGGCCCTGGA	0.677													4	1					0	0	0	0	A	48921913	G	A	48921913	3	1	283	1	0	0	0	0	1	0	0	0	2781	1291	45	2	351	2	CCDC120	23	48921913	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	3972819	48921913	106348647	132	50647											
CLCN5	1184	broad.mit.edu	37	chrX	49854987	49854987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcataagaccctggcaatGgatgtgatgaaaccccggag	12	7	12	10	1	1	3	1	2	0	1	1	5	1	5	3	3	1	2	3	3	3	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:49854987G>A	ENST00000376088.3	+	13	2600	c.1959G>A	c.(1957-1959)atG>atA	p.M653I	CLCN5_ENST00000307367.2_Missense_Mutation_p.M583I|CLCN5_ENST00000376091.3_Missense_Mutation_p.M653I|CLCN5_ENST00000376108.3_Missense_Mutation_p.M583I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	583					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CCCTGGCAATGGATGTGATGA	0.468													4	65					0	0	0	0	A	49854987	G	A	49854987	3	1	283	1	0	0	0	0	1	0	0	0	3496	1348	47	4	2001	4	CLCN5	23	49854987	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	933074	49854987	105415573	133	50648											
CHIC1	53344	broad.mit.edu	37	chrX	72797282	72797282	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatactgaatttccctcCgttctaacagggaaggtaag	11	13	9	8	1	1	2	0	2	1	0	3	3	3	3	2	2	2	2	2	2	5	6			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:72797282C>G	ENST00000373504.6	+	2	421	c.336C>G	c.(334-336)tcC>tcG	p.S112S	CHIC1_ENST00000373502.5_Silent_p.S112S			Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	112						cytoplasmic membrane-bounded vesicle|plasma membrane				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					AATTTCCCTCCGTTCTAACAG	0.343													18	138					0	0	0	0	G	72797282	C	G	72797282	2	3	283	1	0	0	0	0	0	0	0	1	3372	639	23	3		3	CHIC1	23	72797282	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	22942295	72797282	82473278	134	50649											
KLHL4	56062	broad.mit.edu	37	chrX	86888820	86888820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagctatctaaatactgtaGaaagatgggaccctgaggga	14	8	13	6	0	1	3	0	1	1	2	1	6	1	6	1	3	2	2	1	3	6	4			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:86888820G>A	ENST00000373119.4	+	8	1766	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	KLHL4_ENST00000373114.4_Missense_Mutation_p.E541K	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	541						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AAATACTGTAGAAAGATGGGA	0.413													4	59					0	0	0	0	A	86888820	G	A	86888820	3	1	283	1	0	0	0	0	1	0	0	0	8443	943	33	2	1651	2	KLHL4	23	86888820	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	14091538	86888820	68381740	135	50650											
GPRASP2	114928	broad.mit.edu	37	chrX	101971267	101971267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctccaggccccaaacCtgggacgaggtcactgttga	9	7	11	14	1	1	1	1	1	0	0	3	3	3	2	5	3	1	2	5	3	1	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:101971267C>T	ENST00000543253.1	+	5	2389	c.1470C>T	c.(1468-1470)acC>acT	p.T490T	GPRASP2_ENST00000535209.1_Silent_p.T490T|GPRASP2_ENST00000332262.5_Silent_p.T490T	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GGCCCCAAACCTGGGACGAGG	0.507													30	121					0	0	0	0	T	101971267	C	T	101971267	2	4	283	1	0	0	0	0	0	0	0	1	6773	668	24	4		4	GPRASP2	23	101971267	Silent	SNP	C	TCGA-CV-7177-01A-11D-2012-08	15082447	101971267	53299293	136	50651											
PRPS1	5631	broad.mit.edu	37	chrX	106888430	106888430	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctccattgcagacaggcTgaatgtggactttgccttga	9	11	11	10	0	0	3	0	2	0	1	1	5	1	4	3	2	2	2	3	2	1	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:106888430T>C	ENST00000372435.4	+	5	676	c.554T>C	c.(553-555)cTg>cCg	p.L185P	PRPS1_ENST00000372418.1_Missense_Mutation_p.L85P|PRPS1_ENST00000372428.4_Missense_Mutation_p.L118P|PRPS1_ENST00000543248.1_Missense_Mutation_p.L185P	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	185					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						GCAGACAGGCTGAATGTGGAC	0.502													9	286					0	0	0	0	C	106888430	T	C	106888430	3	2	283	1	0	0	0	0	1	0	0	0	12658	1580	55	5	572	5	PRPS1	23	106888430	Missense_Mutation	SNP	T	TCGA-CV-7177-01A-11D-2012-08	4917163	106888430	48382130	137	50652											
IRS4	8471	broad.mit.edu	37	chrX	107978579	107978579	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctctgtattcgtctgcAcacaaggctctcatcttctc	6	13	8	14	2	5	0	1	0	5	0	8	0	5	0	0	2	1	4	0	2	2	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:107978579A>G	ENST00000372129.2	-	1	1072	c.996T>C	c.(994-996)tgT>tgC	p.C332C		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	332	IRS-type PTB.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ATTCGTCTGCACACAAGGCTC	0.587													100	199					0	0	0	0	G	107978579	A	G	107978579	2	3	283	1	0	0	0	0	0	0	0	1	7895	157	6	5		5	IRS4	23	107978579	Silent	SNP	A	TCGA-CV-7177-01A-11D-2012-08	1090149	107978579	47291981	138	50653											
DCX	1641	broad.mit.edu	37	chrX	110644290	110644290	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggcttctgtgatatcagtGaggacttgctcaaaagagtg	11	12	12	6	0	3	3	2	2	1	1	3	4	3	4	0	2	1	2	0	2	3	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:110644290G>C	ENST00000338081.3	-	3	1047	c.876C>G	c.(874-876)ctC>ctG	p.L292L	DCX_ENST00000356220.3_Silent_p.L211L|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Silent_p.L211L|DCX_ENST00000488120.1_Silent_p.L211L|DCX_ENST00000371993.2_Silent_p.L211L	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	292	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TGATATCAGTGAGGACTTGCT	0.493													62	100					0	0	0	0	C	110644290	G	C	110644290	2	2	283	1	0	0	0	0	0	0	0	1	4350	1277	45	2		2	DCX	23	110644290	Silent	SNP	G	TCGA-CV-7177-01A-11D-2012-08	2665711	110644290	44626270	139	50654											
ALG13	79868	broad.mit.edu	37	chrX	110979971	110979971	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatattgcagcagttgcagcTtcctgtgccaataatgttcc	10	13	8	10	0	0	0	0	0	0	0	2	0	2	0	3	0	5	6	3	0	4	6			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:110979971T>C	ENST00000394780.3	+	23	2571	c.2559T>C	c.(2557-2559)gcT>gcC	p.A853A	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Silent_p.A749A	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	853					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CAGTTGCAGCTTCCTGTGCCA	0.403													21	171					0	0	0	0	C	110979971	T	C	110979971	2	2	283	1	0	0	0	0	0	0	0	1	515	1596	56	5		5	ALG13	23	110979971	Silent	SNP	T	TCGA-CV-7177-01A-11D-2012-08	335681	110979971	44290589	140	50655											
AKAP14	158798	broad.mit.edu	37	chrX	119054501	119054501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttcgctttcgagaaaactgGcagaagaatcttactgatgc	12	11	10	8	2	1	4	0	1	1	3	3	5	1	4	0	1	3	3	0	1	5	3			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:119054501G>T	ENST00000371431.3	+	7	799	c.525G>T	c.(523-525)tgG>tgT	p.W175C	AKAP14_ENST00000371423.2_Missense_Mutation_p.W116C|AKAP14_ENST00000371425.4_Missense_Mutation_p.W115C|AKAP14_ENST00000334356.2_Missense_Mutation_p.W115C|AKAP14_ENST00000491105.1_3'UTR	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	175						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						GAGAAAACTGGCAGAAGAATC	0.338													19	39					1.15919e-05	1.38116e-05	1	0	T	119054501	G	T	119054501	3	4	283	1	0	0	0	0	1	0	0	0	450	1212	42	4	552	4	AKAP14	23	119054501	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	8074530	119054501	36216059	141	50656											
CUL4B	8450	broad.mit.edu	37	chrX	119666336	119666336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtttatgtttgaaatcatCattacaaatgaacttgtcac	15	15	5	6	0	3	2	3	2	0	0	3	2	3	2	0	0	2	2	0	0	6	5			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:119666336C>G	ENST00000371322.5	-	18	2441	c.2380G>C	c.(2380-2382)Gat>Cat	p.D794H	CUL4B_ENST00000336592.6_Missense_Mutation_p.D799H|CUL4B_ENST00000404115.3_Missense_Mutation_p.D812H	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	812					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTGAAATCATCATTACAAATG	0.368													15	45					0	0	0	0	G	119666336	C	G	119666336	3	3	283	1	0	0	0	0	1	0	0	0	4090	826	29	2	319	2	CUL4B	23	119666336	Missense_Mutation	SNP	C	TCGA-CV-7177-01A-11D-2012-08	611835	119666336	35604224	142	50657											
GRIA3	2892	broad.mit.edu	37	chrX	122459926	122459926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagcagtgcaaaacaactgGcaagtaacagcaaggtctgt	15	6	11	9	0	1	0	0	0	1	0	1	0	1	0	0	2	6	6	0	2	6	1			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:122459926G>T	ENST00000264357.5	+	4	850	c.558G>T	c.(556-558)tgG>tgT	p.W186C	GRIA3_ENST00000371251.1_Missense_Mutation_p.W186C|GRIA3_ENST00000371256.5_Missense_Mutation_p.W186C|GRIA3_ENST00000542149.1_Missense_Mutation_p.W186C|GRIA3_ENST00000541091.1_Missense_Mutation_p.W170C	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	186					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AAAACAACTGGCAAGTAACAG	0.418													15	46					0.000308642	0.000347999	1	0	T	122459926	G	T	122459926	3	4	283	1	0	0	0	0	1	0	0	0	6819	1212	42	4	572	4	GRIA3	23	122459926	Missense_Mutation	SNP	G	TCGA-CV-7177-01A-11D-2012-08	2793590	122459926	32810634	143	50658											
PLXNA3	55558	broad.mit.edu	37	chrX	153698126	153698126	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccgctccctcagccgctaCggtaggtgtcctcagtgtgg	5	9	12	15	3	2	0	2	0	0	0	4	0	4	0	4	3	2	3	4	3	2	2			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:153698126C>T	ENST00000369682.3	+	28	4969	c.4795_splice	c.e28+1	p.Y1598_splice	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1598					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGCCGCTACGGTAGGTGTC	0.582													17	49					0	0	0	0	T	153698126	C	T	153698126	5	4	283	1	0	0	0	0	0	0	1	0	12193	550	19	1	4900	1	PLXNA3	23	153698126	Splice_Site	SNP	C	TCGA-CV-7177-01A-11D-2012-08	31238200	153698126	1572434	144	50659											
LIN28A	79727	broad.mit.edu	37	chr1	26752814	26752814	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaagtgccacttctgccaGagcatcagccatatggtagc	12	8	10	11	0	2	2	1	0	1	2	2	2	2	2	3	1	5	2	3	1	4	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:26752814G>C	ENST00000326279.6	+	4	609	c.495G>C	c.(493-495)caG>caC	p.Q165H	LIN28A_ENST00000254231.4_Missense_Mutation_p.Q165H	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	165					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ACTTCTGCCAGAGCATCAGCC	0.532													9	54					0	0	0	0	C	26752814	G	C	26752814	3	2	284	1	0	0	0	0	1	0	0	0	8860	933	33	2	509	2	LIN28A	1	26752814	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08		26752814	222497807	1	50660											
COL9A2	1298	broad.mit.edu	37	chr1	40771397	40771397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcatttacctctttcccaGggggaccagagaatccagga	10	8	12	11	0	1	1	0	0	1	1	3	4	3	3	4	4	1	1	4	4	2	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:40771397G>A	ENST00000372748.3	-	21	1193	c.1097C>T	c.(1096-1098)cCt>cTt	p.P366L		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	366	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CTCTTTCCCAGGGGGACCAGA	0.612													11	43					0	0	0	0	A	40771397	G	A	40771397	3	1	284	1	0	0	0	0	1	0	0	0	3738	1000	35	4	1020	4	COL9A2	1	40771397	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	14018583	40771397	208479224	2	50661											
IL12RB2	3595	broad.mit.edu	37	chr1	67861599	67861599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctacttaccctccaacataGatgacctcccctcacatgag	11	9	5	16	0	1	3	1	2	0	1	3	3	3	3	5	0	3	1	5	0	4	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:67861599G>A	ENST00000262345.1	+	16	3056	c.2416G>A	c.(2416-2418)Gat>Aat	p.D806N	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.D720N	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	806					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTCCAACATAGATGACCTCCC	0.577													62	175					0	0	0	0	A	67861599	G	A	67861599	3	1	284	1	0	0	0	0	1	0	0	0	7680	942	33	2	2474	2	IL12RB2	1	67861599	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	27090202	67861599	181389022	3	50662											
ZNF644	84146	broad.mit.edu	37	chr1	91403926	91403926	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctggtgatacaacatgacgGgcttcatagcttaatcctgc	10	12	9	10	1	2	2	1	2	1	0	3	2	3	2	1	2	4	2	1	2	4	4			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:91403926G>A	ENST00000370440.1	-	3	3202	c.2985C>T	c.(2983-2985)gcC>gcT	p.A995A	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Silent_p.A995A|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	995					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CAACATGACGGGCTTCATAGC	0.428													17	56					0	0	0	0	A	91403926	G	A	91403926	2	1	284	1	0	0	0	0	0	0	0	1	18155	1219	43	4		4	ZNF644	1	91403926	Silent	SNP	G	TCGA-CV-7178-01A-21D-2012-08	23542327	91403926	157846695	4	50663											
ZNF644	84146	broad.mit.edu	37	chr1	91405606	91405606	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agatggcgaaagtgactattCccatctaaatgatacatcat	15	11	7	8	1	2	3	1	2	1	1	3	4	3	3	1	1	1	0	1	1	5	4			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:91405606C>T	ENST00000370440.1	-	3	1522	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Silent_p.G435G|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGTGACTATTCCCATCTAAAT	0.413													20	56					0	0	0	0	T	91405606	C	T	91405606	2	4	284	1	0	0	0	0	0	0	0	1	18155	842	30	2		2	ZNF644	1	91405606	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08	1680	91405606	157845015	5	50664											
DPYD	1806	broad.mit.edu	37	chr1	97770874	97770874	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggccaaggtgtgccaTcagattttaatcccatcaga	10	11	9	11	0	2	2	2	0	0	2	3	2	3	2	3	2	2	1	3	2	2	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:97770874T>A	ENST00000370192.3	-	18	2340	c.2240A>T	c.(2239-2241)gAt>gTt	p.D747V	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	747					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGGTGTGCCATCAGATTTTAA	0.478													23	66					0	0	0	0	A	97770874	T	A	97770874	3	1	284	1	0	0	0	0	1	0	0	0	4781	1435	50	5	861	5	DPYD	1	97770874	Missense_Mutation	SNP	T	TCGA-CV-7178-01A-21D-2012-08	6365268	97770874	151479747	6	50665											
EPS8L3	79574	broad.mit.edu	37	chr1	110294748	110294748	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagttggggtccccaggctGagggtcatggttgtgtgtct	4	12	18	7	0	2	1	1	1	1	0	3	2	3	2	2	6	0	3	2	6	0	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:110294748G>A	ENST00000369805.3	-	15	1535	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*	EPS8L3_ENST00000361852.4_Intron|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Nonsense_Mutation_p.Q435*	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	435						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TCCCCAGGCTGAGGGTCATGG	0.562													36	133					0	0	0	0	A	110294748	G	A	110294748	4	1	284	1	0	0	0	0	0	1	0	0	5235	1299	45	2	498	2	EPS8L3	1	110294748	Nonsense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	12523874	110294748	138955873	7	50666											
NOTCH2	4853	broad.mit.edu	37	chr1	120539638	120539638	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggaaggcagttgcactCaaaagtgaagtcaccagtct	13	8	10	10	0	3	1	2	1	1	0	3	2	3	2	2	2	1	3	2	2	4	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:120539638C>A	ENST00000256646.2	-	4	952	c.733G>T	c.(733-735)Gag>Tag	p.E245*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.E206*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	245	EGF-like 6.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		CAGTTGCACTCAAAAGTGAAG	0.547			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				7	31					0.000157383	0.000360879	1	0	A	120539638	C	A	120539638	4	1	284	1	0	0	0	0	0	1	0	0	10618	835	29	2	6806	2	NOTCH2	1	120539638	Nonsense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	10244890	120539638	128710983	8	50667											
ACP6	51205	broad.mit.edu	37	chr1	147131783	147131783	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagggtggtctcatggtaTtgagagtcgtaaggagaata	11	12	14	4	1	2	2	2	1	1	2	4	4	2	2	0	4	0	2	0	4	4	5			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:147131783T>C	ENST00000369238.5	-	2	774	c.327A>G	c.(325-327)caA>caG	p.Q109Q	ACP6_ENST00000392988.2_Silent_p.Q109Q	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	109					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TCTCATGGTATTGAGAGTCGT	0.517													12	89					0	0	0	0	C	147131783	T	C	147131783	2	2	284	1	0	0	0	0	0	0	0	1	165	1490	52	5		5	ACP6	1	147131783	Silent	SNP	T	TCGA-CV-7178-01A-21D-2012-08	26592145	147131783	102118838	9	50668											
ANP32E	81611	broad.mit.edu	37	chr1	150199019	150199019	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacctgcttcatcttcaTcttcatcctcatcctcatcc	7	15	2	17	0	7	1	5	1	2	0	10	1	10	1	4	0	2	1	4	0	1	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:150199019T>C	ENST00000314136.8	-	5	971	c.602A>G	c.(601-603)gAt>gGt	p.D201G	ANP32E_ENST00000436748.2_Missense_Mutation_p.D160G|ANP32E_ENST00000369115.2_Missense_Mutation_p.D69G|ANP32E_ENST00000369116.4_Missense_Mutation_p.D69G|ANP32E_ENST00000369119.3_Missense_Mutation_p.D153G|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000533654.1_Missense_Mutation_p.M146V	NM_001136478.2|NM_030920.3	NP_001129950.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	201	Asp/Glu-rich (highly acidic).					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ttcatcttcatcttcatcctc	0.458													29	65					0	0	0	0	C	150199019	T	C	150199019	3	2	284	1	0	0	0	0	1	0	0	0	708	1435	50	5	216	5	ANP32E	1	150199019	Missense_Mutation	SNP	T	TCGA-CV-7178-01A-21D-2012-08	3067236	150199019	99051602	10	50669											
OR10J1	26476	broad.mit.edu	37	chr1	159410091	159410091	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaggttacccttctgtgcTagaaaggtgccccacttctt	7	14	8	12	0	3	1	1	0	2	1	3	1	3	1	3	2	3	2	3	2	3	6			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:159410091T>C	ENST00000423932.3	+	1	580	c.543T>C	c.(541-543)gcT>gcC	p.A181A	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	181					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CCTTCTGTGCTAGAAAGGTGC	0.493													64	154					0	0	0	0	C	159410091	T	C	159410091	2	2	284	1	0	0	0	0	0	0	0	1	10981	1509	53	5		5	OR10J1	1	159410091	Silent	SNP	T	TCGA-CV-7178-01A-21D-2012-08	9211072	159410091	89840530	11	50670											
PVRL4	81607	broad.mit.edu	37	chr1	161047483	161047483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggctgccagggtcaggcCctggccctcttctagtgctg	4	9	15	13	0	3	0	1	0	2	0	3	1	3	1	3	5	2	2	3	5	1	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:161047483C>A	ENST00000368012.3	-	3	792	c.490G>T	c.(490-492)Ggc>Tgc	p.G164C		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	164	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGGGTCAGGCCCTGGCCCTCT	0.627													12	57					6.40141e-05	0.000149643	1	0	A	161047483	C	A	161047483	3	1	284	1	0	0	0	0	1	0	0	0	12924	623	22	4	1070	4	PVRL4	1	161047483	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	1637392	161047483	88203138	12	50671											
KLHDC9	126823	broad.mit.edu	37	chr1	161069390	161069390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttctttctccccaaggaGgaaccacctgttgctcctca	7	12	6	16	0	3	0	1	0	2	0	5	2	4	2	6	2	2	2	6	2	2	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:161069390G>A	ENST00000392192.2	+	3	851	c.709G>A	c.(709-711)Gga>Aga	p.G237R	KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000368011.4_Silent_p.E230E	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	0										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCCCCAAGGAGGAACCACCTG	0.512													293	246					0	0	0	0	A	161069390	G	A	161069390	3	1	284	1	0	0	0	0	1	0	0	0	8416	1001	35	4	719	4	KLHDC9	1	161069390	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	21907	161069390	88181231	13	50672											
ASPM	259266	broad.mit.edu	37	chr1	197070918	197070918	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacatcctgaaagtagccTgaatgagaactgcagccctt	12	10	9	10	0	0	3	0	3	0	1	1	4	1	3	3	0	5	3	3	0	5	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:197070918T>G	ENST00000367409.4	-	18	7719	c.7463A>C	c.(7462-7464)cAg>cCg	p.Q2488P	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2488	IQ 26.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAAAGTAGCCTGAATGAGAAC	0.363													15	112					0	0	0	0	G	197070918	T	G	197070918	3	3	284	1	0	0	0	0	1	0	0	0	1060	1580	55	5	3014	5	ASPM	1	197070918	Missense_Mutation	SNP	T	TCGA-CV-7178-01A-21D-2012-08	36001528	197070918	52179703	14	50673											
KIF21B	23046	broad.mit.edu	37	chr1	200944027	200944027	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcacacccagtccttgtgCgcattggggatttgctgtga	6	11	13	11	2	0	1	0	1	0	0	1	2	1	2	2	2	2	3	2	2	0	3	rs140999969		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:200944027C>T	ENST00000332129.2	-	33	4906	c.4590G>A	c.(4588-4590)gcG>gcA	p.A1530A	KIF21B_ENST00000422435.2_Silent_p.A1543A|KIF21B_ENST00000360529.5_Silent_p.A1530A|KIF21B_ENST00000461742.2_Silent_p.A1543A	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1543					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGTCCTTGTGCGCATTGGGGA	0.642													16	131					0	0	0	0	T	200944027	C	T	200944027	2	4	284	1	0	0	0	0	0	0	0	1	8340	755	27	1		1	KIF21B	1	200944027	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08	3873109	200944027	48306594	15	50674											
CNTN2	6900	broad.mit.edu	37	chr1	205034931	205034931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcagaaggagaccattggGgatctgaccatcctgaacgc	11	7	13	10	1	1	4	0	2	1	2	2	6	2	5	3	3	2	1	3	3	2	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:205034931G>A	ENST00000331830.4	+	14	1994	c.1710G>A	c.(1708-1710)ggG>ggA	p.G570G		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	570	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGACCATTGGGGATCTGACCA	0.642													9	71					0	0	0	0	A	205034931	G	A	205034931	2	1	284	1	0	0	0	0	0	0	0	1	3671	1219	43	4		4	CNTN2	1	205034931	Silent	SNP	G	TCGA-CV-7178-01A-21D-2012-08	4090904	205034931	44215690	16	50675											
DSTYK	25778	broad.mit.edu	37	chr1	205130494	205130494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttccgttttctctaaccGgcctgagtggccagcttcca	6	13	8	14	2	2	1	0	1	2	0	5	1	4	1	5	2	2	2	5	2	1	5			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:205130494G>A	ENST00000367162.3	-	7	1870	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W	DSTYK_ENST00000367161.3_Missense_Mutation_p.R614W|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	614						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TTCTCTAACCGGCCTGAGTGG	0.483													26	76					0	0	0	0	A	205130494	G	A	205130494	3	1	284	1	0	0	0	0	1	0	0	0	4821	1115	39	1	977	1	DSTYK	1	205130494	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	95563	205130494	44120127	17	50676											
DISP1	84976	broad.mit.edu	37	chr1	223177961	223177961	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagaaggcaaagtgatcttCtctctgagtcgcgtgggctc	8	10	13	10	3	3	3	0	2	3	1	6	4	3	3	0	2	0	2	0	2	2	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:223177961C>T	ENST00000284476.6	+	8	3386	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1074					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAGTGATCTTCTCTCTGAGTC	0.587													24	78					0	0	0	0	T	223177961	C	T	223177961	2	4	284	1	0	0	0	0	0	0	0	1	4576	912	32	2		2	DISP1	1	223177961	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08	18047467	223177961	26072660	18	50677											
WNT3A	89780	broad.mit.edu	37	chr1	228210572	228210572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaactgcaccaccgtccaCgacagcctggccatcttcgg	8	7	10	16	3	1	0	0	0	1	0	3	2	2	1	5	3	3	1	5	3	1	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:228210572C>T	ENST00000284523.1	+	2	354	c.276C>T	c.(274-276)caC>caT	p.H92H	WNT3A_ENST00000366753.2_Silent_p.H92H	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	92					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CCACCGTCCACGACAGCCTGG	0.652													14	77					0	0	0	0	T	228210572	C	T	228210572	2	4	284	1	0	0	0	0	0	0	0	1	17485	535	19	1		1	WNT3A	1	228210572	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08	5032611	228210572	21040049	19	50678											
FMN2	56776	broad.mit.edu	37	chr1	240555811	240555811	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttattttcttgcactttcagCcaaaattgaccaagaggcag	12	13	7	9	0	2	2	1	1	1	1	2	2	2	2	2	1	2	2	2	1	4	6			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:240555811C>A	ENST00000319653.9	+	15	5089	c.4858_splice	c.e15-1	p.A1620_splice	FMN2_ENST00000545751.1_Splice_Site_p.A216_splice	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1620	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCACTTTCAGCCAAAATTGAC	0.328													29	100					1.16021e-09	2.88052e-09	1	0	A	240555811	C	A	240555811	5	1	284	1	0	0	0	0	0	0	1	0	5995	753	26	4	4917	4	FMN2	1	240555811	Splice_Site	SNP	C	TCGA-CV-7178-01A-21D-2012-08	12345239	240555811	8694810	20	50679											
CAD	790	broad.mit.edu	37	chr2	27457394	27457394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctgccccaggatgaccaGctgaaagttattgaatgcaa	12	10	9	10	0	1	3	0	3	1	0	2	4	1	4	3	1	3	3	3	1	4	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:27457394G>A	ENST00000264705.4	+	23	3789	c.3627G>A	c.(3625-3627)caG>caA	p.Q1209Q	CAD_ENST00000403525.1_Silent_p.Q1146Q	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1209	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGGATGACCAGCTGAAAGTTA	0.547													35	158					0	0	0	0	A	27457394	G	A	27457394	2	1	284	1	0	0	0	0	0	0	0	1	2590	962	34	4		4	CAD	2	27457394	Silent	SNP	G	TCGA-CV-7178-01A-21D-2012-08		27457394	215741979	21	50680											
SPRED2	200734	broad.mit.edu	37	chr2	65541019	65541019	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgacttgccccgggagggCtgcgtcttgatcacgctgcc	4	8	14	15	5	2	1	1	1	1	0	2	3	2	2	3	2	3	2	3	2	0	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:65541019C>T	ENST00000356388.4	-	6	1062	c.873G>A	c.(871-873)caG>caA	p.Q291Q	SPRED2_ENST00000443619.2_Silent_p.Q288Q	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	291					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCCGGGAGGGCTGCGTCTTGA	0.662													21	96					0	0	0	0	T	65541019	C	T	65541019	2	4	284	1	0	0	0	0	0	0	0	1	15183	796	28	4		4	SPRED2	2	65541019	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08	38083625	65541019	177658354	22	50681											
AUP1	550	broad.mit.edu	37	chr2	74755571	74755571	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaggggtctctgaacttgCagggtaagaggttgtaccac	10	9	13	9	0	1	2	0	1	1	1	2	2	1	2	2	4	3	4	2	4	3	4			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:74755571C>A	ENST00000377526.3	-	5	879	c.570G>T	c.(568-570)ctG>ctT	p.L190L		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	256						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						TCTGAACTTGCAGGGTAAGAG	0.527													17	44					9.7654e-05	0.000225355	1	0	A	74755571	C	A	74755571	2	1	284	1	0	0	0	0	0	0	0	1	1224	697	25	4		4	AUP1	2	74755571	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08	9214552	74755571	168443802	23	50682											
ADRA2B	151	broad.mit.edu	37	chr2	96780623	96780623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctggttgaagatggtgtaGataacagggttcagtgagct	10	12	14	5	0	1	4	1	2	0	2	2	4	2	4	1	3	2	4	1	3	3	4			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:96780623G>C	ENST00000409345.3	-	1	1361	c.1266C>G	c.(1264-1266)atC>atG	p.I422M		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	425					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AGATGGTGTAGATAACAGGGT	0.627													5	30					0	0	0	0	C	96780623	G	C	96780623	3	2	284	1	0	0	0	0	1	0	0	0	338	932	33	2	81	2	ADRA2B	2	96780623	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	22025052	96780623	146418750	24	50683											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257536	114257536	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaacccccgcccaggccctCtgcttggggcccctgccctg	4	6	10	21	1	1	0	0	0	1	0	1	0	1	0	7	3	3	1	7	3	1	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:114257536C>G	ENST00000306507.5	+	1	876	c.703C>G	c.(703-705)Ctg>Gtg	p.L235V		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	235	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CCCAGGCCCTCTGCTTGGGGC	0.726													28	113					0	0	0	0	G	114257536	C	G	114257536	3	3	284	1	0	0	0	0	1	0	0	0	6045	912	32	2	705	2	FOXD4L1	2	114257536	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	17476913	114257536	128941837	25	50684											
TTN	7273	broad.mit.edu	37	chr2	179427268	179427268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttactcttccaggtgggaggGgtggttcagacactttaacg	8	12	13	8	1	2	1	1	0	1	1	3	2	3	2	1	5	2	1	1	5	2	5			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:179427268G>T	ENST00000589042.1	-	326	83815	c.83591C>A	c.(83590-83592)cCc>cAc	p.P27864H	TTN_ENST00000359218.5_Missense_Mutation_p.P18924H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P25296H|TTN_ENST00000342175.6_Missense_Mutation_p.P18991H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P26223H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P18799H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26223	Ig-like 130.						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)			AGGTGGGAGGGGTGGTTCAGA	0.448													12	55					3.07112e-06	7.32187e-06	1	0	T	179427268	G	T	179427268	3	4	284	1	0	0	0	0	1	0	0	0	16831	1232	43	4	24536	4	TTN	2	179427268	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	65169732	179427268	63772105	26	50685											
TTN	7273	broad.mit.edu	37	chr2	179638736	179638736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccgtctttcatccagaCgccttccacactttccaagg	7	12	7	15	2	2	1	1	0	1	1	5	1	5	1	5	2	0	0	5	2	1	4			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:179638736C>T	ENST00000589042.1	-	31	7383	c.7159G>A	c.(7159-7161)Gtc>Atc	p.V2387I	TTN_ENST00000359218.5_Missense_Mutation_p.V2341I|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V2387I|TTN_ENST00000342175.6_Missense_Mutation_p.V2341I|TTN_ENST00000360870.5_Missense_Mutation_p.V2387I|TTN_ENST00000591111.1_Missense_Mutation_p.V2387I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V2341I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2110	Ig-like 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V2341F(2)|p.V2387F(2)		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)			TTCATCCAGACGCCTTCCACA	0.463													21	107					0	0	0	0	T	179638736	C	T	179638736	3	4	284	1	0	0	0	0	1	0	0	0	16831	536	19	1	104157	1	TTN	2	179638736	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	211468	179638736	63560637	27	50686											
SF3B1	23451	broad.mit.edu	37	chr2	198272767	198272767	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaattcctcatcagaaagTgggcgatttctctcatcaat	11	14	6	10	1	6	1	4	0	2	1	8	2	7	1	1	1	0	0	1	1	3	3	rs71422649	byFrequency	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:198272767T>C	ENST00000335508.5	-	9	1285	c.1194A>G	c.(1192-1194)ccA>ccG	p.P398P		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	398	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATCAGAAAGTGGGCGATTTC	0.358			Mis		myelodysplastic syndrome								12	32					0	0	0	0	C	198272767	T	C	198272767	2	2	284	1	0	0	0	0	0	0	0	1	14236	1683	59	5		5	SF3B1	2	198272767	Silent	SNP	T	TCGA-CV-7178-01A-21D-2012-08	18634031	198272767	44926606	28	50687											
TUBA4A	7277	broad.mit.edu	37	chr2	220116737	220116737	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcctctcaccaatgacCgtaggctccagatccacaaa	12	8	5	16	1	1	2	1	1	1	1	5	2	4	2	5	1	0	2	5	1	3	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:220116737C>T	ENST00000392088.2	-	2	729	c.174G>A	c.(172-174)acG>acA	p.T58T	TUBA4A_ENST00000248437.4_Silent_p.T73T|TUBA4A_ENST00000498660.1_Intron	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	73					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCAATGACCGTAGGCTCCA	0.527													9	29					0	0	0	0	T	220116737	C	T	220116737	2	4	284	1	0	0	0	0	0	0	0	1	16845	639	23	1		1	TUBA4A	2	220116737	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08	21843970	220116737	23082636	29	50688											
INHA	3623	broad.mit.edu	37	chr2	220439871	220439871	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatgtcctggccttggTctccctctgctctgcgcctg	1	13	10	17	1	3	1	0	1	3	0	5	1	4	1	5	2	2	1	5	2	0	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:220439871T>A	ENST00000243786.2	+	2	904	c.724T>A	c.(724-726)Tct>Act	p.S242T		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	242					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGGCCTTGGTCTCCCTCTGC	0.657													9	38					0	0	0	0	A	220439871	T	A	220439871	3	1	284	1	0	0	0	0	1	0	0	0	7793	1667	58	5	730	5	INHA	2	220439871	Missense_Mutation	SNP	T	TCGA-CV-7178-01A-21D-2012-08	323134	220439871	22759502	30	50689											
CHRNG	1146	broad.mit.edu	37	chr2	233406237	233406237	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaactgctcccttatcttCcagtgaggccatttattggg	8	13	9	11	0	1	2	0	1	1	1	3	2	3	2	3	2	2	1	3	2	3	5			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:233406237C>A	ENST00000389494.3	+	5	525	c.504C>A	c.(502-504)ttC>ttA	p.F168L	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	168					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCCTTATCTTCCAGTGAGGCC	0.582													35	102					6.05902e-23	1.54698e-22	1	0	A	233406237	C	A	233406237	3	1	284	1	0	0	0	0	1	0	0	0	3425	854	30	2	522	2	CHRNG	2	233406237	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	12966366	233406237	9793136	31	50690											
ATP2B2	491	broad.mit.edu	37	chr3	10417306	10417306	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagcaccaggatgatcacCgtgatggctgacatcaccaa	13	7	10	11	1	2	4	2	3	0	1	2	5	2	5	3	2	1	2	3	2	2	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:10417306C>T	ENST00000397077.1	-	10	1664	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	ATP2B2_ENST00000343816.4_Silent_p.T394T|ATP2B2_ENST00000360273.2_Silent_p.T408T|ATP2B2_ENST00000383800.4_Silent_p.T363T|ATP2B2_ENST00000352432.4_Silent_p.T408T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	408					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGATGATCACCGTGATGGCTG	0.562													14	11					0	0	0	0	T	10417306	C	T	10417306	2	4	284	1	0	0	0	0	0	0	0	1	1144	639	23	1		1	ATP2B2	3	10417306	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08		10417306	187605124	32	50691											
ZNF621	285268	broad.mit.edu	37	chr3	40573572	40573572	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttataaagcaggaagcctCtgaagaaacagagttgcaca	17	7	10	7	0	1	3	0	1	1	2	1	4	1	4	1	1	4	4	1	1	6	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:40573572C>G	ENST00000339296.5	+	5	763	c.311C>G	c.(310-312)tCt>tGt	p.S104C	ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.S104C|ZNF621_ENST00000310898.1_Missense_Mutation_p.S104C	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CAGGAAGCCTCTGAAGAAACA	0.423													18	38					0	0	0	0	G	40573572	C	G	40573572	3	3	284	1	0	0	0	0	1	0	0	0	18140	913	32	2	325	2	ZNF621	3	40573572	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	30156266	40573572	157448858	33	50692											
ALG1L2	644974	broad.mit.edu	37	chr3	129813348	129813348	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggccgaggactaccccCgcttctaggtgagaggccag	8	5	16	12	2	1	1	0	1	1	1	1	5	1	3	4	5	1	1	4	5	2	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:129813348C>T	ENST00000507643.1	+	0	456							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										GGACTACCCCCGCTTCTAGGT	0.617													6	20					0	0	0	0	T	129813348	C	T	129813348	1	4	284	0	1	0	0	0	0	0	0	0	518	652	23	1		1	ALG1L2	3	129813348	RNA	SNP	C	TCGA-CV-7178-01A-21D-2012-08	89239776	129813348	68209082	34	50693											
ABCC5	10057	broad.mit.edu	37	chr3	183681281	183681281	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaaggcactgagggggtcGtccaggatgtagatgctcct	8	10	14	9	1	1	2	0	1	1	1	4	3	3	3	2	4	1	3	2	4	2	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:183681281G>A	ENST00000334444.6	-	15	2367	c.2127C>T	c.(2125-2127)gaC>gaT	p.D709D	ABCC5_ENST00000265586.6_Silent_p.D709D	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	709	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAGGGGGTCGTCCAGGATGT	0.547													21	119					0	0	0	0	A	183681281	G	A	183681281	2	1	284	1	0	0	0	0	0	0	0	1	56	1136	40	1		1	ABCC5	3	183681281	Silent	SNP	G	TCGA-CV-7178-01A-21D-2012-08	53867933	183681281	14341149	35	50694											
MFSD10	10227	broad.mit.edu	37	chr4	2932838	2932838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccagagcacctaggctgCgcagtgtacccatgaccgtg	8	7	13	13	2	0	2	0	1	0	1	0	2	0	2	4	2	3	4	4	2	2	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:2932838C>T	ENST00000329687.4	-	11	1736	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	MFSD10_ENST00000507555.1_Missense_Mutation_p.A365T|MFSD10_ENST00000355443.4_Missense_Mutation_p.R401H|MFSD10_ENST00000508221.1_Missense_Mutation_p.A355T|MFSD10_ENST00000514800.1_Missense_Mutation_p.R401H	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	401					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACCTAGGCTGCGCAGTGTACC	0.706													5	5					0	0	0	0	T	2932838	C	T	2932838	3	4	284	1	0	0	0	0	1	0	0	0	9597	768	27	1	173	1	MFSD10	4	2932838	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08		2932838	188221438	36	50695											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005444	118005444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgcgcttgcaaagattatGaagatttctctttcctcttt	10	17	6	8	1	2	3	0	1	2	2	4	3	3	3	1	0	2	2	1	0	4	5			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:118005444G>A	ENST00000310754.4	-	1	1292	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	369					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CAAAGATTATGAAGATTTCTC	0.378													48	62					0	0	0	0	A	118005444	G	A	118005444	3	1	284	1	0	0	0	0	1	0	0	0	16547	1294	45	2	7	2	TRAM1L1	4	118005444	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	115072606	118005444	73148832	37	50696											
KLKB1	3818	broad.mit.edu	37	chr4	187175918	187175918	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctcctttgaattacactgGtatgtagcatatgtaagaag	12	13	10	6	0	0	2	0	1	0	1	1	2	1	2	1	2	2	5	1	2	7	6			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:187175918G>A	ENST00000264690.6	+	12	1676		c.e12+1		KLKB1_ENST00000513864.1_Splice_Site	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1						blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AATTACACTGGTATGTAGCAT	0.383													8	16					0	0	0	0	A	187175918	G	A	187175918	5	1	284	1	0	0	0	0	0	0	1	0	8464	1275	44	4	1532	4	KLKB1	4	187175918	Splice_Site	SNP	G	TCGA-CV-7178-01A-21D-2012-08	69170474	187175918	3978358	38	50697											
F11	2160	broad.mit.edu	37	chr4	187201215	187201215	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggattgcccagtacacgcAttaaaaagagcaaagctctt	14	9	9	9	1	1	1	0	0	1	1	1	2	1	2	1	1	4	4	1	1	5	4			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:187201215A>T	ENST00000264692.4	+	8	982	c.649A>T	c.(649-651)Att>Ttt	p.I217F	F11_ENST00000403665.2_Missense_Mutation_p.I269F			P03951	FA11_HUMAN	coagulation factor XI	269	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CAGTACACGCATTAAAAAGAG	0.398													14	41					0	0	0	0	T	187201215	A	T	187201215	3	4	284	1	0	0	0	0	1	0	0	0	5375	217	8	5	831	5	F11	4	187201215	Missense_Mutation	SNP	A	TCGA-CV-7178-01A-21D-2012-08	25297	187201215	3953061	39	50698											
MYO10	4651	broad.mit.edu	37	chr5	16682098	16682098	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcagcacccggttggcCgtgatgatcacaaacgagtt	10	8	12	11	3	1	2	1	2	0	0	1	3	1	2	2	2	3	4	2	2	1	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr5:16682098C>T	ENST00000513610.1	-	31	4525	c.4071G>A	c.(4069-4071)acG>acA	p.T1357T	MYO10_ENST00000274203.9_Silent_p.T714T|MYO10_ENST00000427430.2_Silent_p.T714T|MYO10_ENST00000515803.1_Silent_p.T696T|MYO10_ENST00000505695.1_Silent_p.T696T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1357					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCCGGTTGGCCGTGATGATCA	0.582													26	183					0	0	0	0	T	16682098	C	T	16682098	2	4	284	1	0	0	0	0	0	0	0	1	10132	639	23	1		1	MYO10	5	16682098	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08		16682098	164233162	40	50699											
CDH6	1004	broad.mit.edu	37	chr5	31305351	31305351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatccttatgttgagccacGatttctctacttggggcctt	7	15	8	11	1	1	1	0	1	1	0	3	2	2	1	3	2	2	1	3	2	3	6			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr5:31305351G>T	ENST00000265071.2	+	7	1335	c.1070G>T	c.(1069-1071)cGa>cTa	p.R357L	CDH6_ENST00000514738.1_Missense_Mutation_p.R302L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTGAGCCACGATTTCTCTAC	0.468													46	61					8.20599e-20	2.08039e-19	1	0	T	31305351	G	T	31305351	3	4	284	1	0	0	0	0	1	0	0	0	3143	1058	37	3	1092	3	CDH6	5	31305351	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	14623253	31305351	149609909	41	50700											
ZNF354A	6940	broad.mit.edu	37	chr5	178140587	178140587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaagagtcttgtgtttGcgttgactttgtggttttat	8	19	11	3	1	1	3	0	2	1	1	1	3	1	3	0	1	1	3	0	1	3	6			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr5:178140587G>C	ENST00000335815.2	-	5	489	c.292C>G	c.(292-294)Caa>Gaa	p.Q98E		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	98					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TCTTGTGTTTGCGTTGACTTT	0.368													37	47					0	0	0	0	C	178140587	G	C	178140587	3	2	284	1	0	0	0	0	1	0	0	0	17959	1328	46	4	1529	4	ZNF354A	5	178140587	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	146835236	178140587	2774673	42	50701											
ZNF184	7738	broad.mit.edu	37	chr6	27420986	27420986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctggagatagctcttcttCagaaatgtcaggctctgggg	8	12	12	9	0	6	2	2	0	4	2	6	3	6	2	0	4	1	2	0	4	2	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:27420986C>T	ENST00000211936.6	-	6	636	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ZNF184_ENST00000377419.1_Missense_Mutation_p.E118K	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGCTCTTCTTCAGAAATGTCA	0.378													43	43					0	0	0	0	T	27420986	C	T	27420986	3	4	284	1	0	0	0	0	1	0	0	0	17846	835	29	2	1907	2	ZNF184	6	27420986	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08		27420986	143694081	43	50702											
MOG	4340	broad.mit.edu	37	chr6	29633938	29633938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcctttcagatcctttctActgggtgagccctggagtgc	5	13	11	12	0	2	2	1	1	1	1	3	3	3	3	3	2	4	0	3	2	1	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:29633938A>G	ENST00000376894.4	+	3	564	c.446A>G	c.(445-447)tAc>tGc	p.Y149C	MOG_ENST00000431798.2_Missense_Mutation_p.Y149C|MOG_ENST00000376898.3_Missense_Mutation_p.Y149C|MOG_ENST00000416766.2_Intron|MOG_ENST00000396701.2_Missense_Mutation_p.Y149C|MOG_ENST00000396704.3_Missense_Mutation_p.Y149C|MOG_ENST00000376888.2_Missense_Mutation_p.Y33C|MOG_ENST00000376917.3_Missense_Mutation_p.Y149C|MOG_ENST00000483013.1_Missense_Mutation_p.Y33C|MOG_ENST00000376891.4_Missense_Mutation_p.Y149C|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000494692.1_Missense_Mutation_p.Y149C|MOG_ENST00000490427.1_Missense_Mutation_p.Y33C			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	149					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						gatcctttctactgggTGAGC	0.532													52	57					0	0	0	0	G	29633938	A	G	29633938	3	3	284	1	0	0	0	0	1	0	0	0	9763	391	14	5	540	5	MOG	6	29633938	Missense_Mutation	SNP	A	TCGA-CV-7178-01A-21D-2012-08	2212952	29633938	141481129	44	50703											
HLA-DRA	3122	broad.mit.edu	37	chr6	32410230	32410230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcttgcctttcagaagaaCatgtgatcatccaggccgag	10	12	9	10	1	3	3	2	1	1	2	4	4	4	3	3	1	2	0	3	1	2	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:32410230C>T	ENST00000395388.2	+	2	197	c.88C>T	c.(88-90)Cat>Tat	p.H30Y	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.H30Y	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	30	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TTCAGAAGAACATGTGATCAT	0.433									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				51	161					0	0	0	0	T	32410230	C	T	32410230	3	4	284	1	0	0	0	0	1	0	0	0	7257	478	17	4	94	4	HLA-DRA	6	32410230	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	2776292	32410230	138704837	45	50704											
TAP1	6890	broad.mit.edu	37	chr6	32816769	32816769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggtggagggacctcacctCcacagcctgggtgaactgca	10	6	13	12	0	1	1	1	1	0	0	2	3	2	3	4	4	3	1	4	4	2	0			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:32816769C>T	ENST00000354258.4	-	6	1716	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.E258K	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	519	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						GACCTCACCTCCACAGCCTGG	0.532													12	29					0	0	0	0	T	32816769	C	T	32816769	3	4	284	1	0	0	0	0	1	0	0	0	15641	864	30	2	895	2	TAP1	6	32816769	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	406539	32816769	138298298	46	50705											
RSPH3	83861	broad.mit.edu	37	chr6	159401883	159401883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaggtcagccaggtaaCgctgtgcaaatgctcgggcg	10	6	16	9	3	1	1	1	0	0	1	2	2	1	1	1	4	4	4	1	4	3	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:159401883C>T	ENST00000367069.2	-	6	1418	c.782G>A	c.(781-783)cGt>cAt	p.R261H	RSPH3_ENST00000297262.3_Missense_Mutation_p.R307H|RSPH3_ENST00000252655.1_Missense_Mutation_p.R403H|RSPH3_ENST00000449822.1_Missense_Mutation_p.R165H			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	403										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AGCCAGGTAACGCTGTGCAAA	0.463													12	40					0	0	0	0	T	159401883	C	T	159401883	3	4	284	1	0	0	0	0	1	0	0	0	13790	536	19	1	486	1	RSPH3	6	159401883	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	126585114	159401883	11713184	47	50706											
ANLN	54443	broad.mit.edu	37	chr7	36459871	36459871	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaaagaactcgtgtccctCgagctgaatctggtgatagc	10	10	10	11	2	1	3	0	2	1	1	5	4	3	3	2	1	3	1	2	1	4	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:36459871C>T	ENST00000265748.2	+	11	2184	c.1963C>T	c.(1963-1965)Cga>Tga	p.R655*	ANLN_ENST00000396068.2_Nonsense_Mutation_p.R618*	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	655	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TCGTGTCCCTCGAGCTGAATC	0.443													20	156					0	0	0	0	T	36459871	C	T	36459871	4	4	284	1	0	0	0	0	0	1	0	0	693	876	31	1	2005	1	ANLN	7	36459871	Nonsense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08		36459871	122678792	48	50707											
SFRP4	6424	broad.mit.edu	37	chr7	37956018	37956018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaggtggttgggcatcCgcgtgatgttccagggcatg	5	10	18	8	2	0	1	0	1	0	0	2	1	2	1	2	5	1	5	2	5	0	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:37956018C>A	ENST00000436072.2	-	1	499	c.122G>T	c.(121-123)cGg>cTg	p.R41L	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	41	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTTGGGCATCCGCGTGATGTT	0.692													5	147					0.000602214	0.00137213	1	0	A	37956018	C	A	37956018	3	1	284	1	0	0	0	0	1	0	0	0	14250	652	23	3	942	3	SFRP4	7	37956018	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	1496147	37956018	121182645	49	50708											
AEBP1	165	broad.mit.edu	37	chr7	44153489	44153489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgggcacagatgcggctgCggcgcctcaacgccaccacc	7	5	12	17	5	1	1	1	0	0	1	2	1	1	1	4	3	3	2	4	3	1	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:44153489C>T	ENST00000223357.3	+	21	3411	c.3106C>T	c.(3106-3108)Cgg>Tgg	p.R1036W	AEBP1_ENST00000450684.2_Missense_Mutation_p.R611W	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1036	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GATGCGGCTGCGGCGCCTCAA	0.692													12	38					0	0	0	0	T	44153489	C	T	44153489	3	4	284	1	0	0	0	0	1	0	0	0	349	759	27	1	3188	1	AEBP1	7	44153489	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	6197471	44153489	114985174	50	50709											
ZMIZ2	83637	broad.mit.edu	37	chr7	44797689	44797689	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactgccccgacagggggtCaagagaacctactctgaggt	10	6	12	13	1	2	2	1	1	1	1	2	4	2	2	4	3	3	0	4	3	3	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:44797689C>G	ENST00000309315.4	+	6	918	c.795C>G	c.(793-795)gtC>gtG	p.V265V	ZMIZ2_ENST00000441627.1_Silent_p.V265V|ZMIZ2_ENST00000265346.7_Silent_p.V265V|ZMIZ2_ENST00000413916.1_Silent_p.V233V|ZMIZ2_ENST00000433667.1_Silent_p.V233V	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	265	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GACAGGGGGTCAAGAGAACCT	0.607													14	72					0	0	0	0	G	44797689	C	G	44797689	2	3	284	1	0	0	0	0	0	0	0	1	17792	813	29	2		2	ZMIZ2	7	44797689	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08	644200	44797689	114340974	51	50710											
AUTS2	26053	broad.mit.edu	37	chr7	70255917	70255917	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctctcccagaaggacgactCctctgtccgcagagataagg	10	8	10	13	2	2	2	0	0	2	2	6	5	5	3	3	2	0	1	3	2	2	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:70255917C>G	ENST00000342771.4	+	19	4036	c.3715C>G	c.(3715-3717)Cct>Gct	p.P1239A	AUTS2_ENST00000406775.2_Missense_Mutation_p.P1215A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1239										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AAGGACGACTCCTCTGTCCGC	0.627													13	36					0	0	0	0	G	70255917	C	G	70255917	3	3	284	1	0	0	0	0	1	0	0	0	1229	855	30	2	3934	2	AUTS2	7	70255917	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	25458228	70255917	88882746	52	50711											
MUC17	140453	broad.mit.edu	37	chr7	100677537	100677537	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctagaacactttcagcaaCtcctgttgacaccagcacac	12	8	7	14	0	1	2	1	1	0	1	2	2	2	2	2	1	4	4	2	1	3	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:100677537C>G	ENST00000306151.4	+	3	2904	c.2840C>G	c.(2839-2841)aCt>aGt	p.T947S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	947	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTCAGCAACTCCTGTTGAC	0.507													177	412					0	0	0	0	G	100677537	C	G	100677537	3	3	284	1	0	0	0	0	1	0	0	0	10044	565	20	4	2850	4	MUC17	7	100677537	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	30421620	100677537	58461126	53	50712											
CTTNBP2	83992	broad.mit.edu	37	chr7	117501264	117501264	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctgtgtcgtccttaccCgcagggcctcgatgacaagg	7	9	11	14	3	0	1	0	1	0	0	4	2	2	1	4	2	1	1	4	2	2	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:117501264C>T	ENST00000160373.3	-	2	279	c.189_splice	c.e2+1	p.R63_splice		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	63										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CGTCCTTACCCGCAGGGCCTC	0.483													7	25					0	0	0	0	T	117501264	C	T	117501264	5	4	284	1	0	0	0	0	0	0	1	0	4077	666	23	1	4891	1	CTTNBP2	7	117501264	Splice_Site	SNP	C	TCGA-CV-7178-01A-21D-2012-08	16823727	117501264	41637399	54	50713											
KCND2	3751	broad.mit.edu	37	chr7	120386013	120386013	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatgtatcaggaagccaTcaaggtagtatacaagaact	16	8	9	8	0	2	1	2	0	0	1	2	2	2	2	2	2	3	3	2	2	9	4			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:120386013T>C	ENST00000331113.4	+	5	2612	c.1647T>C	c.(1645-1647)caT>caC	p.H549H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	549					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CAGGAAGCCATCAAGGTAGTA	0.448													15	104					0	0	0	0	C	120386013	T	C	120386013	2	2	284	1	0	0	0	0	0	0	0	1	8072	1432	50	5		5	KCND2	7	120386013	Silent	SNP	T	TCGA-CV-7178-01A-21D-2012-08	2884749	120386013	38752650	55	50714											
FEZF1	389549	broad.mit.edu	37	chr7	121944307	121944307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttgagatgcagagagtgcTtgggttcccccttgggtaag	8	11	15	7	0	0	2	0	1	0	2	1	4	1	2	2	2	2	5	2	2	1	5			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:121944307T>C	ENST00000442488.2	-	1	252	c.185A>G	c.(184-186)aAg>aGg	p.K62R	FEZF1_ENST00000331178.4_Missense_Mutation_p.K62R|FEZF1_ENST00000427185.2_Missense_Mutation_p.K62R|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	62					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CAGAGAGTGCTTGGGTTCCCC	0.627													23	107					0	0	0	0	C	121944307	T	C	121944307	3	2	284	1	0	0	0	0	1	0	0	0	5870	1609	56	5	1258	5	FEZF1	7	121944307	Missense_Mutation	SNP	T	TCGA-CV-7178-01A-21D-2012-08	1558294	121944307	37194356	56	50715											
PRSS1	5644	broad.mit.edu	37	chr7	142459768	142459768	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgttaatcaagctctcctCacgtgcagtaatcaacgccc	11	10	6	14	2	4	0	3	0	1	0	5	0	4	0	2	0	3	4	2	0	4	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:142459768C>G	ENST00000486171.1	+	4	403	c.386C>G	c.(385-387)tCa>tGa	p.S129*	PRSS1_ENST00000311737.7_Nonsense_Mutation_p.S115*			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	115	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AAGCTCTCCTCACGTGCAGTA	0.562													28	149					0	0	0	0	G	142459768	C	G	142459768	4	3	284	1	0	0	0	0	0	1	0	0	12693	838	29	2	354	2	PRSS1	7	142459768	Nonsense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	20515461	142459768	16678895	57	50716											
LYN	4067	broad.mit.edu	37	chr8	56912010	56912010	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaagtggacggctccagAagcaatcaactttggatgtt	12	12	10	7	1	1	1	1	0	0	1	2	3	2	3	1	3	2	3	1	3	5	4			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:56912010A>G	ENST00000520220.2	+	12	1449	c.1175A>G	c.(1174-1176)gAa>gGa	p.E392G	LYN_ENST00000519728.1_Missense_Mutation_p.E413G	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	413	Protein kinase.				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|T cell costimulation	cytosol|Golgi apparatus|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)			ACGGCTCCAGAAGCAATCAAC	0.393													11	88					0	0	0	0	G	56912010	A	G	56912010	3	3	284	1	0	0	0	0	1	0	0	0	9172	246	9	5	1280	5	LYN	8	56912010	Missense_Mutation	SNP	A	TCGA-CV-7178-01A-21D-2012-08		56912010	89452012	58	50717											
CDH17	1015	broad.mit.edu	37	chr8	95182707	95182707	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattaatatctttaactttTacatgaatttccagcggata	13	17	4	7	1	2	1	1	1	1	0	3	2	3	2	1	1	3	0	1	1	6	8			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:95182707T>C	ENST00000027335.3	-	9	1108	c.984A>G	c.(982-984)gtA>gtG	p.V328V	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.V328V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	328	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTTAACTTTTACATGAATTT	0.398													22	94					0	0	0	0	C	95182707	T	C	95182707	2	2	284	1	0	0	0	0	0	0	0	1	3131	1741	61	5		5	CDH17	8	95182707	Silent	SNP	T	TCGA-CV-7178-01A-21D-2012-08	38270697	95182707	51181315	59	50718											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119936942	119936942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcaagctacgaagctgctCgaaggtgaggttagcatgtc	11	9	12	9	2	1	1	1	1	0	0	3	3	1	1	0	2	5	5	0	2	5	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:119936942C>T	ENST00000297350.4	-	5	1255	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	293	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CGAAGCTGCTCGAAGGTGAGG	0.448													16	111					0	0	0	0	T	119936942	C	T	119936942	3	4	284	1	0	0	0	0	1	0	0	0	16379	893	31	1	332	1	TNFRSF11B	8	119936942	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	24754235	119936942	26427080	60	50719											
HAS2	3037	broad.mit.edu	37	chr8	122626402	122626402	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcttccgcctgccacactTattgatgagaactacataca	11	12	5	13	1	1	2	0	2	1	1	2	3	2	2	3	0	4	0	3	0	4	6			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:122626402T>C	ENST00000303924.4	-	4	2143	c.1606A>G	c.(1606-1608)Aag>Gag	p.K536E		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	536						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGCCACACTTATTGATGAGA	0.423													62	100					0	0	0	0	C	122626402	T	C	122626402	3	2	284	1	0	0	0	0	1	0	0	0	7012	1763	61	5	56	5	HAS2	8	122626402	Missense_Mutation	SNP	T	TCGA-CV-7178-01A-21D-2012-08	2689460	122626402	23737620	61	50720											
C8orf76	84933	broad.mit.edu	37	chr8	124250097	124250097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggtgagccagacaccgagCctgaccttcctggacatccc	9	6	10	16	1	0	3	0	2	0	1	2	5	2	4	6	2	2	0	6	2	0	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:124250097C>T	ENST00000276704.4	-	3	349	c.298G>A	c.(298-300)Gct>Act	p.A100T	ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.A68T|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	100							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGACACCGAGCCTGACCTTCC	0.428													40	36					0	0	0	0	T	124250097	C	T	124250097	3	4	284	1	0	0	0	0	1	0	0	0	2462	739	26	4	860	4	C8orf76	8	124250097	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	1623695	124250097	22113925	62	50721											
ATAD2	29028	broad.mit.edu	37	chr8	124348766	124348766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttattacagtgacataatCaggaacctaaaattcaagca	17	11	5	8	0	2	1	2	1	0	0	2	2	2	2	1	1	3	1	1	1	7	6			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:124348766C>G	ENST00000287394.5	-	22	3165	c.3058G>C	c.(3058-3060)Gat>Cat	p.D1020H	ATAD2_ENST00000521903.1_Missense_Mutation_p.D338H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1020	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGACATAATCAGGAACCTAA	0.328													16	158					0	0	0	0	G	124348766	C	G	124348766	3	3	284	1	0	0	0	0	1	0	0	0	1075	826	29	2	1142	2	ATAD2	8	124348766	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	98669	124348766	22015256	63	50722											
ARHGAP39	80728	broad.mit.edu	37	chr8	145770919	145770919	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctggatcagcttgaagagCtcgcaggcctccttcttcac	8	11	9	13	1	4	2	2	1	2	1	6	3	5	3	2	2	2	3	2	2	1	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:145770919C>T	ENST00000276826.5	-	5	2436	c.2235G>A	c.(2233-2235)gaG>gaA	p.E745E	ARHGAP39_ENST00000377307.2_Silent_p.E745E|ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000540274.1_Silent_p.E745E			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	745	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCTTGAAGAGCTCGCAGGCCT	0.632													31	51					0	0	0	0	T	145770919	C	T	145770919	2	4	284	1	0	0	0	0	0	0	0	1	886	796	28	4		4	ARHGAP39	8	145770919	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08	21422153	145770919	593103	64	50723											
CDKN2A	1029	broad.mit.edu	37	chr9	21971132	21971133	+	Frame_Shift_Ins	INS	-	-	G																															acgggtcgggtgagagtggcINSggggtcggcgcagttgggct																										TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:21971132_21971133insG	ENST00000579755.1	-	2	560_561	c.268_269insC	c.(268-270)ccafs	p.P90fs	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.P131fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.H25fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.H25fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.H25fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.H76fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.P90fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.H25fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.H76fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.H76fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.H25fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.H76fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.A76fs*70(2)|p.L65fs*38(1)|p.0(1)|p.A76fs*64(1)|p.R131fs*44(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.A76T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTGAGAGTGGCGGGGTCGGCGC	0.708		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			13	20	---	---	---	---					G	21971133	-	G	21971132	7	5	284	1	0	1	1	0	0	0	0	0	3190	768	27	0	252	0	CDKN2A	9	21971132	Frame_Shift_Ins	INS	-	TCGA-CV-7178-01A-21D-2012-08		21971132	119242299	65	50724											
FBXO10	26267	broad.mit.edu	37	chr9	37521758	37521758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatactgccactccatacaGgccattgtagctgacgtggt	11	10	9	11	1	0	1	0	1	0	0	1	1	1	1	3	2	4	2	3	2	4	4			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:37521758G>A	ENST00000432825.2	-	8	2056	c.2008C>T	c.(2008-2010)Ctg>Ttg	p.L670L	FBXO10_ENST00000543968.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.L195L|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	670						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACTCCATACAGGCCATTGTAG	0.572													13	18					0	0	0	0	A	37521758	G	A	37521758	2	1	284	1	0	0	0	0	0	0	0	1	5771	991	35	4		4	FBXO10	9	37521758	Silent	SNP	G	TCGA-CV-7178-01A-21D-2012-08	15550626	37521758	103691673	66	50725											
ASTN2	23245	broad.mit.edu	37	chr9	120176823	120176823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggtcgtcctgcaccgCgatgcgccccggcagctcgt	4	7	13	17	6	0	0	0	0	0	0	4	1	2	0	5	2	3	3	5	2	0	0			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:120176823C>T	ENST00000313400.4	-	1	494	c.394G>A	c.(394-396)Gcg>Acg	p.A132T	ASTN2_ENST00000373996.3_Missense_Mutation_p.A132T|ASTN2_ENST00000361209.2_Missense_Mutation_p.A132T|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	132						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCCTGCACCGCGATGCGCCCC	0.726													13	35					0	0	0	0	T	120176823	C	T	120176823	3	4	284	1	0	0	0	0	1	0	0	0	1069	768	27	1	3792	1	ASTN2	9	120176823	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	82655065	120176823	21036608	67	50726											
ZBTB43	23099	broad.mit.edu	37	chr9	129595076	129595076	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggacgtctagtaatgccCgctccagaaattgttagtta	12	11	9	9	2	1	1	0	0	1	1	2	2	2	2	2	1	1	4	2	1	5	5			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:129595076C>T	ENST00000373464.4	+	3	552	c.288C>T	c.(286-288)ccC>ccT	p.P96P	ZBTB43_ENST00000449886.1_Silent_p.P96P|ZBTB43_ENST00000373457.1_Silent_p.P96P	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	96	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TAGTAATGCCCGCTCCAGAAA	0.443													18	44					0	0	0	0	T	129595076	C	T	129595076	2	4	284	1	0	0	0	0	0	0	0	1	17639	639	23	1		1	ZBTB43	9	129595076	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08	9418253	129595076	11618355	68	50727											
SETX	23064	broad.mit.edu	37	chr9	135221775	135221775	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattattgtctactatataTaactcatcatcatctccaat	13	16	1	11	0	5	0	3	0	2	0	6	0	5	0	2	0	2	0	2	0	7	7			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:135221775T>A	ENST00000372169.2	-	4	443	c.261A>T	c.(259-261)ttA>ttT	p.L87F	SETX_ENST00000393220.1_Missense_Mutation_p.L87F|SETX_ENST00000224140.5_Missense_Mutation_p.L87F			Q7Z333	SETX_HUMAN	senataxin	87					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTACTATATATAACTCATCAT	0.338													8	23					0	0	0	0	A	135221775	T	A	135221775	3	1	284	1	0	0	0	0	1	0	0	0	14228	1403	49	5	7864	5	SETX	9	135221775	Missense_Mutation	SNP	T	TCGA-CV-7178-01A-21D-2012-08	5626699	135221775	5991656	69	50728											
GPR158	57512	broad.mit.edu	37	chr10	25887168	25887168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaggctgagtccacggaGtcggtgccgttggtgtgcaa	7	8	17	9	4	0	1	0	1	0	0	2	3	1	2	2	4	3	3	2	4	1	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:25887168G>T	ENST00000376351.3	+	11	2972	c.2613G>T	c.(2611-2613)gaG>gaT	p.E871D	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	871						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGTCCACGGAGTCGGTGCCGT	0.498													28	78					5.61819e-17	1.41437e-16	1	0	T	25887168	G	T	25887168	3	4	284	1	0	0	0	0	1	0	0	0	6712	1020	36	4	2655	4	GPR158	10	25887168	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08		25887168	109647579	70	50729											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43650877	43650877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaaatgagtgagaagatgCggtcactgcaagaaagaagg	18	5	14	4	1	1	6	1	2	0	5	1	7	1	6	0	2	2	1	0	2	6	0			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:43650877C>T	ENST00000374466.3	+	2	615	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R94W	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	94					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.R94W(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGAGAAGATGCGGTCACTGCA	0.428													6	28					0	0	0	0	T	43650877	C	T	43650877	3	4	284	1	0	0	0	0	1	0	0	0	3971	759	27	1	282	1	CSGALNACT2	10	43650877	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	17763709	43650877	91883870	71	50730											
DNA2	1763	broad.mit.edu	37	chr10	70225525	70225525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctttttgaaacacctcatgGagaaccgtaccaattagcat	13	11	7	10	1	1	2	1	1	0	1	1	3	1	2	3	1	4	3	3	1	5	4			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:70225525G>A	ENST00000399180.2	-	4	743	c.744C>T	c.(742-744)ctC>ctT	p.L248L	DNA2_ENST00000358410.3_Silent_p.L162L|DNA2_ENST00000399179.2_Silent_p.L162L			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	162					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						ACACCTCATGGAGAACCGTAC	0.358													6	25					0	0	0	0	A	70225525	G	A	70225525	2	1	284	1	0	0	0	0	0	0	0	1	4633	1161	41	2		2	DNA2	10	70225525	Silent	SNP	G	TCGA-CV-7178-01A-21D-2012-08	26574648	70225525	65309222	72	50731											
PKD2L1	9033	broad.mit.edu	37	chr10	102048805	102048805	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgggtgcttccaaatagcTtgttccttctgttggaagaa	8	14	11	8	1	1	1	0	0	1	1	3	2	3	2	2	2	3	4	2	2	4	6			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:102048805T>A	ENST00000318222.3	-	15	2641	c.2259A>T	c.(2257-2259)caA>caT	p.Q753H	PKD2L1_ENST00000338519.3_Missense_Mutation_p.Q678H|PKD2L1_ENST00000353274.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	753					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCAAATAGCTTGTTCCTTCT	0.507													27	31					0	0	0	0	A	102048805	T	A	102048805	3	1	284	1	0	0	0	0	1	0	0	0	12039	1606	56	5	166	5	PKD2L1	10	102048805	Missense_Mutation	SNP	T	TCGA-CV-7178-01A-21D-2012-08	31823280	102048805	33485942	73	50732											
TDRD1	56165	broad.mit.edu	37	chr10	115985910	115985910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaccctgcctctttgcaGagtgcaaccaatcacctcta	11	10	6	14	0	3	2	1	1	2	1	3	2	3	2	4	0	5	2	4	0	4	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:115985910G>A	ENST00000251864.2	+	22	3263	c.3110G>A	c.(3109-3111)aGa>aAa	p.R1037K	TDRD1_ENST00000369282.1_Missense_Mutation_p.R1037K|TDRD1_ENST00000369281.2_Missense_Mutation_p.R923K|TDRD1_ENST00000369280.1_Missense_Mutation_p.R1037K|TDRD1_ENST00000422662.1_Missense_Mutation_p.R641K	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1037	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCTCTTTGCAGAGTGCAACCA	0.438													13	44					0	0	0	0	A	115985910	G	A	115985910	3	1	284	1	0	0	0	0	1	0	0	0	15824	942	33	2	3192	2	TDRD1	10	115985910	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	13937105	115985910	19548837	74	50733											
OR51A4	401666	broad.mit.edu	37	chr11	4967807	4967807	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtaggaatgggataatTggtttttcttgcaatatctc	11	15	10	5	0	2	0	0	0	2	0	3	3	2	2	0	3	1	3	0	3	5	7			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:4967807T>C	ENST00000380373.2	-	1	549	c.524A>G	c.(523-525)cAa>cGa	p.Q175R	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGATAATTGGTTTTTCTT	0.413													48	73					0	0	0	0	C	4967807	T	C	4967807	3	2	284	1	0	0	0	0	1	0	0	0	11158	1812	63	5	419	5	OR51A4	11	4967807	Missense_Mutation	SNP	T	TCGA-CV-7178-01A-21D-2012-08		4967807	130038709	75	50734											
NRIP3	56675	broad.mit.edu	37	chr11	9009124	9009124	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacacaggccaaagagatGagattatataggcagcctgt	14	8	10	9	0	0	2	0	1	0	2	1	4	1	2	3	2	1	1	3	2	4	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:9009124G>A	ENST00000309166.3	-	3	506	c.393C>T	c.(391-393)ctC>ctT	p.L131L	NRIP3_ENST00000531090.1_Silent_p.L131L	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	131					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CCAAAGAGATGAGATTATATA	0.453													18	82					0	0	0	0	A	9009124	G	A	9009124	2	1	284	1	0	0	0	0	0	0	0	1	10725	1277	45	2		2	NRIP3	11	9009124	Silent	SNP	G	TCGA-CV-7178-01A-21D-2012-08	4041317	9009124	125997392	76	50735											
TRMT112	51504	broad.mit.edu	37	chr11	64084793	64084793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaggtatcatacgcgccacGaagttggggttgaattccac	10	11	11	9	3	1	1	1	1	0	0	2	2	2	1	2	3	1	3	2	3	5	6			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:64084793G>A	ENST00000535126.1	-	1	189	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	TRMT112_ENST00000539854.1_Silent_p.F41F|TRMT112_ENST00000544844.1_Silent_p.F41F|TRMT112_ENST00000535750.1_5'UTR|TRMT112_ENST00000308774.2_Silent_p.F41F			Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog (S. cerevisiae)	0	TRM112.				peptidyl-glutamine methylation	protein complex	protein binding|protein methyltransferase activity			large_intestine(1)|upper_aerodigestive_tract(1)	2						TACGCGCCACGAAGTTGGGGT	0.632													35	44					0	0	0	0	A	64084793	G	A	64084793	3	1	284	1	0	0	0	0	1	0	0	0	16658	1049	37	1	266	1	TRMT112	11	64084793	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	55075669	64084793	70921723	77	50736											
P2RY2	5029	broad.mit.edu	37	chr11	72946234	72946234	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctgcgcagatccgacagaActgacatgcagaggatagaa	14	5	12	10	2	0	5	0	1	0	4	1	7	1	6	2	1	3	2	2	1	3	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:72946234A>G	ENST00000311131.2	+	3	1497	c.1030A>G	c.(1030-1032)Act>Gct	p.T344A	P2RY2_ENST00000393596.2_Missense_Mutation_p.T344A|P2RY2_ENST00000393597.2_Missense_Mutation_p.T344A	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ATCCGACAGAACTGACATGCA	0.632													18	153					0	0	0	0	G	72946234	A	G	72946234	3	3	284	1	0	0	0	0	1	0	0	0	11423	43	2	5	1032	5	P2RY2	11	72946234	Missense_Mutation	SNP	A	TCGA-CV-7178-01A-21D-2012-08	8861441	72946234	62060282	78	50737											
GDPD4	220032	broad.mit.edu	37	chr11	76928297	76928297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaactcggacaggaggtttCatggctatgtgcaaatctat	12	11	10	8	1	2	0	1	0	1	0	3	2	2	2	0	4	2	3	0	4	4	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:76928297C>T	ENST00000376217.2	-	17	1807	c.1557G>A	c.(1555-1557)atG>atA	p.M519I	GDPD4_ENST00000315938.4_3'UTR			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	519					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CAGGAGGTTTCATGGCTATGT	0.458													13	59					0	0	0	0	T	76928297	C	T	76928297	3	4	284	1	0	0	0	0	1	0	0	0	6377	841	29	2		2	GDPD4	11	76928297	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	3982063	76928297	58078219	79	50738											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035195	110035195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccaaaactgcaaacgaagGaggactggtgaaaagcaaca	19	3	11	8	1	0	1	0	1	0	0	0	4	0	3	1	3	6	2	1	3	7	0			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:110035195G>A	ENST00000453089.2	+	5	2173	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.G463E|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.G462E			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	462							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCAAACGAAGGAGGACTGGTG	0.493													25	30					0	0	0	0	A	110035195	G	A	110035195	3	1	284	1	0	0	0	0	1	0	0	0	17658	1174	41	2	1407	2	ZC3H12C	11	110035195	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	33106898	110035195	24971321	80	50739											
KCNJ5	3762	broad.mit.edu	37	chr11	128781799	128781799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaacgcagtcatctccatgCgggacgagaagctgtgcctc	10	7	11	13	3	2	1	1	0	1	1	4	3	2	2	2	1	4	2	2	1	2	0	rs143790141		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:128781799C>T	ENST00000529694.1	+	2	1007	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	KCNJ5_ENST00000338350.4_Missense_Mutation_p.R211W|KCNJ5_ENST00000533599.1_Missense_Mutation_p.R211W	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	211					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CATCTCCATGCGGGACGAGAA	0.587													18	65					0	0	0	0	T	128781799	C	T	128781799	3	4	284	1	0	0	0	0	1	0	0	0	8107	759	27	1	633	1	KCNJ5	11	128781799	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	18746604	128781799	6224717	81	50740											
APLP2	334	broad.mit.edu	37	chr11	129979472	129979472	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgctttgaaacaaaagAagaagttcttcagtactgtc	14	11	9	7	0	2	3	1	1	1	2	3	4	2	3	0	0	4	4	0	0	6	4			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:129979472A>T	ENST00000543137.1	+	0	329				APLP2_ENST00000345598.5_Missense_Mutation_p.E85V|APLP2_ENST00000338167.5_Missense_Mutation_p.E85V|APLP2_ENST00000278756.7_Missense_Mutation_p.E95V|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000528499.1_Missense_Mutation_p.E85V|APLP2_ENST00000263574.5_Missense_Mutation_p.E85V|APLP2_ENST00000539648.1_Intron	NM_001243299.1	NP_001230228.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2						G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GAAACAAAAGAAGAAGTTCTT	0.403													14	21					0	0	0	0	T	129979472	A	T	129979472	1	4	284	1	0	0	0	0	0	0	0	0	781	246	9	5		5	APLP2	11	129979472	Translation_Start_Site	SNP	A	TCGA-CV-7178-01A-21D-2012-08	1197673	129979472	5027044	82	50741											
CACNA2D4	93589	broad.mit.edu	37	chr12	2027520	2027520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggcccaggccacgggCattggctggaggggaatcca	11	4	15	11	1	0	0	0	0	0	0	1	2	1	2	3	7	0	2	3	7	2	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:2027520C>A	ENST00000382722.5	-	1	482	c.120G>T	c.(118-120)atG>atT	p.M40I	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.M40I|RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.M40I|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.M40I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	40						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGCCACGGGCATTGGCTGGA	0.657													8	14					5.18039e-06	1.22693e-05	1	0	A	2027520	C	A	2027520	3	1	284	1	0	0	0	0	1	0	0	0	2576	710	25	4	3445	4	CACNA2D4	12	2027520	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08		2027520	131824375	83	50742											
LRRK2	120892	broad.mit.edu	37	chr12	40646775	40646775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttcatcaaaggaagttttCcaggcatctgcgaatgcatt	11	13	8	9	1	4	0	2	0	2	0	5	2	5	1	1	2	2	3	1	2	3	4			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:40646775C>T	ENST00000298910.7	+	11	1303	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F	LRRK2_ENST00000343742.2_Silent_p.F415F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	415					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGGAAGTTTTCCAGGCATCTG	0.363													13	28					0	0	0	0	T	40646775	C	T	40646775	2	4	284	1	0	0	0	0	0	0	0	1	9097	854	30	2		2	LRRK2	12	40646775	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08	38619255	40646775	93205120	84	50743											
NACA	4666	broad.mit.edu	37	chr12	57114446	57114446	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgggacccgcagtcttttGagaagaggtcaccacaggaa	11	8	13	9	1	2	2	1	1	1	2	2	5	2	4	2	3	0	2	2	3	2	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:57114446G>C	ENST00000454682.1	-	3	1149	c.868C>G	c.(868-870)Caa>Gaa	p.Q290E	NACA_ENST00000550952.1_Missense_Mutation_p.Q290E|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCAGTCTTTTGAGAAGAGGTC	0.498			T	BCL6	NHL								9	44					0	0	0	0	C	57114446	G	C	57114446	3	2	284	1	0	0	0	0	1	0	0	0	10203	1299	45	2	5396	2	NACA	12	57114446	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	16467671	57114446	76737449	85	50744											
APAF1	317	broad.mit.edu	37	chr12	99060002	99060002	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacatggaaactgaagAagttgaagacatactgcagg	15	7	13	6	0	0	4	0	2	0	2	0	6	0	6	0	3	3	2	0	3	5	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:99060002A>T	ENST00000357310.1	+	9	1806	c.1229A>T	c.(1228-1230)gAa>gTa	p.E410V	APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.E410V|APAF1_ENST00000550527.1_Missense_Mutation_p.E399V|APAF1_ENST00000549007.1_Missense_Mutation_p.E410V|APAF1_ENST00000547045.1_Missense_Mutation_p.E410V|APAF1_ENST00000359972.2_Missense_Mutation_p.E399V|APAF1_ENST00000339433.3_Missense_Mutation_p.E410V	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	410	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GAAACTGAAGAAGTTGAAGAC	0.348													19	68					0	0	0	0	T	99060002	A	T	99060002	3	4	284	1	0	0	0	0	1	0	0	0	756	246	9	5	1259	5	APAF1	12	99060002	Missense_Mutation	SNP	A	TCGA-CV-7178-01A-21D-2012-08	41945556	99060002	34791893	86	50745											
FLT1	2321	broad.mit.edu	37	chr13	28959102	28959102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattagcatgacagtctaaaGtggtggaactgctgatggcc	11	10	12	8	0	1	2	0	2	1	0	1	3	1	3	1	3	3	2	1	3	4	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr13:28959102G>T	ENST00000282397.4	-	14	2287	c.2036C>A	c.(2035-2037)aCt>aAt	p.T679N	FLT1_ENST00000541932.1_Missense_Mutation_p.T679N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	679	Ig-like C2-type 7.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACAGTCTAAAGTGGTGGAACT	0.448													21	82					2.27731e-05	5.35837e-05	1	0	T	28959102	G	T	28959102	3	4	284	1	0	0	0	0	1	0	0	0	5986	1029	36	4	2138	4	FLT1	13	28959102	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08		28959102	86210776	87	50746											
SLITRK5	26050	broad.mit.edu	37	chr13	88327768	88327768	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgtgcagaaaccatcgAttattatggggaaatctgtg	11	13	11	6	2	1	1	0	0	1	1	3	3	1	2	1	2	2	1	1	2	4	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr13:88327768A>T	ENST00000325089.6	+	2	344	c.125A>T	c.(124-126)gAt>gTt	p.D42V	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	42						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAAACCATCGATTATTATGGG	0.453													23	133					0	0	0	0	T	88327768	A	T	88327768	3	4	284	1	0	0	0	0	1	0	0	0	14834	333	12	5	127	5	SLITRK5	13	88327768	Missense_Mutation	SNP	A	TCGA-CV-7178-01A-21D-2012-08	59368666	88327768	26842110	88	50747											
OR4M1	441670	broad.mit.edu	37	chr14	20248700	20248700	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctccttgatatttggtaCtcttccattacagcccctaa	8	14	5	14	0	1	1	0	1	1	0	3	1	3	1	5	1	3	1	5	1	4	7			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:20248700C>G	ENST00000315957.4	+	1	300	c.219C>G	c.(217-219)taC>taG	p.Y73*		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATTTGGTACTCTTCCATTA	0.423													111	356					0	0	0	0	G	20248700	C	G	20248700	4	3	284	1	0	0	0	0	0	1	0	0	11146	576	20	4	221	4	OR4M1	14	20248700	Nonsense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08		20248700	87100840	89	50748											
SIPA1L1	26037	broad.mit.edu	37	chr14	72191487	72191487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacctccaagtccaccattGaagaagatctaaagaaacta	18	7	5	11	0	1	4	0	1	1	3	3	4	3	4	4	0	2	0	4	0	8	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:72191487G>A	ENST00000555818.1	+	17	4960	c.4612G>A	c.(4612-4614)Gaa>Aaa	p.E1538K	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1517K|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E992K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1517K	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1538					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTCCACCATTGAAGAAGATCT	0.478													13	57					0	0	0	0	A	72191487	G	A	72191487	3	1	284	1	0	0	0	0	1	0	0	0	14417	1291	45	2	4674	2	SIPA1L1	14	72191487	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	51942787	72191487	35158053	90	50749											
ESRRB	2103	broad.mit.edu	37	chr14	76948418	76948418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaagcgacggctggactcaGagagcagcccatacctgagc	12	4	12	13	2	1	2	1	1	0	1	1	5	1	3	2	2	5	2	2	2	2	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:76948418G>A	ENST00000380887.2	+	4	646	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.E192K|ESRRB_ENST00000509242.1_Missense_Mutation_p.E192K|ESRRB_ENST00000261532.7_Missense_Mutation_p.E192K			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	192						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GCTGGACTCAGAGAGCAGCCC	0.527													5	59					0	0	0	0	A	76948418	G	A	76948418	3	1	284	1	0	0	0	0	1	0	0	0	5299	943	33	2	584	2	ESRRB	14	76948418	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	4756931	76948418	30401122	91	50750											
EIF2AK4	440275	broad.mit.edu	37	chr15	40268785	40268785	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcggcacgagcggccggcGggaccggggacgccgccccc	5	0	19	17	8	0	0	0	0	0	0	0	4	0	2	5	6	2	1	5	6	0	0			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:40268785G>A	ENST00000263791.5	+	12	2032	c.1989G>A	c.(1987-1989)gcG>gcA	p.A663A	EIF2AK4_ENST00000382727.2_Silent_p.A663A	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	663	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGCGGCCGGCGGGACCGGGGA	0.692													8	29					0	0	0	0	A	40268785	G	A	40268785	2	1	284	1	0	0	0	0	0	0	0	1	5035	1103	39	1		1	EIF2AK4	15	40268785	Silent	SNP	G	TCGA-CV-7178-01A-21D-2012-08		40268785	62262607	92	50751											
PLCB2	5330	broad.mit.edu	37	chr15	40581116	40581116	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccagcgcctccttctGgaactgtggagacagcaagg	8	8	12	13	1	2	1	0	0	2	1	3	3	3	2	3	3	4	1	3	3	2	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:40581116G>A	ENST00000260402.3	-	32	3607	c.3358C>T	c.(3358-3360)Cag>Tag	p.Q1120*	PLCB2_ENST00000557821.1_Nonsense_Mutation_p.Q1116*|PLCB2_ENST00000456256.2_Nonsense_Mutation_p.Q1105*	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1120					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCCTCCTTCTGGAACTGTGGA	0.632													5	58					0	0	0	0	A	40581116	G	A	40581116	4	1	284	1	0	0	0	0	0	1	0	0	12100	1357	47	4	203	4	PLCB2	15	40581116	Nonsense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	312331	40581116	61950276	93	50752											
SLC12A1	6557	broad.mit.edu	37	chr15	48500135	48500135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggagtgctatgacaatttCctccaaagtggagaaactgc	13	9	10	9	0	0	2	0	1	0	1	2	4	2	3	2	2	3	1	2	2	4	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:48500135C>A	ENST00000396577.3	+	2	434	c.219C>A	c.(217-219)ttC>ttA	p.F73L	SLC12A1_ENST00000330289.6_Missense_Mutation_p.F73L|SLC12A1_ENST00000380993.3_Missense_Mutation_p.F73L|SLC12A1_ENST00000558405.1_Missense_Mutation_p.F73L|SLC12A1_ENST00000561031.1_Missense_Mutation_p.F73L	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	73					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATGACAATTTCCTCCAAAGTG	0.428													13	58					2.61681e-11	6.54204e-11	1	0	A	48500135	C	A	48500135	3	1	284	1	0	0	0	0	1	0	0	0	14470	854	30	2	221	2	SLC12A1	15	48500135	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	7919019	48500135	54031257	94	50753											
PRTG	283659	broad.mit.edu	37	chr15	55931883	55931883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcattctgcaggccaacagGattacagcggatggtgtagt	11	9	13	8	1	1	0	0	0	1	0	1	2	1	2	1	4	5	3	1	4	3	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:55931883G>T	ENST00000389286.4	-	13	2328	c.2281C>A	c.(2281-2283)Cct>Act	p.P761T		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	761	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGGCCAACAGGATTACAGCGG	0.478													16	82					3.32936e-07	8.04409e-07	1	0	T	55931883	G	T	55931883	3	4	284	1	0	0	0	0	1	0	0	0	12717	1174	41	2	1203	2	PRTG	15	55931883	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	7431748	55931883	46599509	95	50754											
SLTM	79811	broad.mit.edu	37	chr15	59185178	59185178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccttcatcttttcaaaagGcaagatctctttccttctgt	8	18	4	11	0	5	1	2	0	3	1	8	1	7	1	2	1	0	1	2	1	3	6			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:59185178G>A	ENST00000380516.2	-	14	1903	c.1816C>T	c.(1816-1818)Cct>Tct	p.P606S	SLTM_ENST00000536328.1_Missense_Mutation_p.P175S|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	606	Arg/Glu-rich.			P -> S (in Ref. 3; AAH14944).	apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTTCAAAAGGCAAGATCTCT	0.368													12	38					0	0	0	0	A	59185178	G	A	59185178	3	1	284	1	0	0	0	0	1	0	0	0	14842	1203	42	4	1320	4	SLTM	15	59185178	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	3253295	59185178	43346214	96	50755											
LARP6	55323	broad.mit.edu	37	chr15	71124564	71124564	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcggcttggcgacgccTccggacccaggggctgccag	5	6	14	16	4	1	0	0	0	1	0	3	2	2	1	4	5	1	2	4	5	0	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:71124564T>A	ENST00000299213.8	-	3	1373	c.1303A>T	c.(1303-1305)Agg>Tgg	p.R435W		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	435					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TGGCGACGCCTCCGGACCCAG	0.612													44	80					0	0	0	0	A	71124564	T	A	71124564	3	1	284	1	0	0	0	0	1	0	0	0	8685	1550	54	5	176	5	LARP6	15	71124564	Missense_Mutation	SNP	T	TCGA-CV-7178-01A-21D-2012-08	11939386	71124564	31406828	97	50756											
ISLR	3671	broad.mit.edu	37	chr15	74467616	74467616	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgaccttcatcccccgCgacgccttccgcagcctccg	5	7	9	20	5	1	1	1	1	0	0	4	3	4	1	7	0	2	2	7	0	0	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:74467616C>T	ENST00000249842.3	+	2	774	c.417C>T	c.(415-417)cgC>cgT	p.R139R	ISLR_ENST00000395118.1_Silent_p.R139R|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	139					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TCATCCCCCGCGACGCCTTCC	0.612													18	63					0	0	0	0	T	74467616	C	T	74467616	2	4	284	1	0	0	0	0	0	0	0	1	7911	755	27	1		1	ISLR	15	74467616	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08	3343052	74467616	28063776	98	50757											
SPATA8	145946	broad.mit.edu	37	chr15	97327425	97327425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagccatgacatgtccctgCggctggaggcctttcaaggg	8	8	14	11	1	1	1	1	1	0	0	2	3	2	2	3	4	2	1	3	4	2	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:97327425C>T	ENST00000558553.1	+	2	159	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	SPATA8_ENST00000328504.3_Silent_p.C44C			Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	0								p.C44C(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CATGTCCCTGCGGCTGGAGGC	0.587													17	96					0	0	0	0	T	97327425	C	T	97327425	3	4	284	1	0	0	0	0	1	0	0	0	15105	776	27	1	138	1	SPATA8	15	97327425	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	22859809	97327425	5203967	99	50758											
SOX8	30812	broad.mit.edu	37	chr16	1033825	1033825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgactacaagtaccagccaCggcgcaggaagagcgccaaa	14	2	11	14	4	0	1	0	0	0	1	0	3	0	2	4	2	4	2	4	2	5	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:1033825C>T	ENST00000293894.3	+	2	635	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	174					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GTACCAGCCACGGCGCAGGAA	0.677													11	40					0	0	0	0	T	1033825	C	T	1033825	3	4	284	1	0	0	0	0	1	0	0	0	15045	527	19	1	526	1	SOX8	16	1033825	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08		1033825	89320928	100	50759											
LITAF	9516	broad.mit.edu	37	chr16	11643462	11643462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggaaaggacttcctgcgGcacccggctccctccacgtc	6	7	12	16	3	0	0	0	0	0	0	4	2	3	2	4	5	1	2	4	5	1	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:11643462G>A	ENST00000381810.3	-	5	569	c.518C>T	c.(517-519)gCc>gTc	p.A173V	LITAF_ENST00000413364.2_3'UTR|LITAF_ENST00000339430.5_3'UTR|LITAF_ENST00000572255.1_3'UTR|LITAF_ENST00000571688.1_3'UTR|LITAF_ENST00000571459.1_3'UTR|LITAF_ENST00000570904.1_3'UTR			Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	0					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						ACTTCCTGCGGCACCCGGCTC	0.602													3	8					0	0	0	0	A	11643462	G	A	11643462	3	1	284	1	0	0	0	0	1	0	0	0	8885	1218	42	4		4	LITAF	16	11643462	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	10609637	11643462	78711291	101	50760											
ERN2	10595	broad.mit.edu	37	chr16	23706682	23706682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcggaggagccgcttgaCagccactgcccgtccctcaa	7	6	11	17	4	1	1	1	1	0	0	3	3	2	3	4	2	3	1	4	2	1	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:23706682C>T	ENST00000256797.4	-	15	1951	c.1783G>A	c.(1783-1785)Gtc>Atc	p.V595I	ERN2_ENST00000457008.2_Missense_Mutation_p.V495I	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	547	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGCCGCTTGACAGCCACTGCC	0.612													4	15					0	0	0	0	T	23706682	C	T	23706682	3	4	284	1	0	0	0	0	1	0	0	0	5276	478	17	4	1173	4	ERN2	16	23706682	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	12063220	23706682	66648071	102	50761											
TOX3	27324	broad.mit.edu	37	chr16	52473856	52473856	+	Missense_Mutation	SNP	G	G	C																															ctgaacagaacggatggtctGggcttctgctgactcagcag																										TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:52473856G>C	ENST00000219746.9	-	7	1296	c.1012C>G	c.(1012-1014)Cag>Gag	p.Q338E	TOX3_ENST00000407228.3_Missense_Mutation_p.Q333E	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	338					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CGGATGGTCTGGGCTTCTGCT	0.438													13	56					0	0	0	0	C	52473856	G	C	52473856	3	2	284	1	0	0	0	0	1	0	0	0	16474	1357	47	4	722	4	TOX3	16	52473856	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	28767174	52473856	37880897	103	50762	401	2									
TOX3	27324	broad.mit.edu	37	chr16	52473857	52473857	+	Silent	SNP	G	G	T																															tgaacagaacggatggtctgGgcttctgctgactcagcagc																										TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:52473857G>T	ENST00000219746.9	-	7	1295	c.1011C>A	c.(1009-1011)gcC>gcA	p.A337A	TOX3_ENST00000407228.3_Silent_p.A332A	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	337					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGATGGTCTGGGCTTCTGCTG	0.433													13	56					2.27111e-07	5.52432e-07	1	0	T	52473857	G	T	52473857	2	4	284	1	0	0	0	0	0	0	0	1	16474	1219	43	4		4	TOX3	16	52473857	Silent	SNP	G	TCGA-CV-7178-01A-21D-2012-08	1	52473857	37880896	104	50763	401	2									
MON1B	22879	broad.mit.edu	37	chr16	77229484	77229484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagcggcagcggctgtcgGacctgtaccaccgcctgcat	7	6	14	14	4	0	0	0	0	0	0	1	2	0	2	4	4	4	4	4	4	1	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:77229484G>T	ENST00000248248.3	+	5	1698	c.1348G>T	c.(1348-1350)Gac>Tac	p.D450Y	MON1B_ENST00000439557.2_Missense_Mutation_p.D341Y|MON1B_ENST00000320859.6_Silent_p.R113R|MON1B_ENST00000545553.1_Missense_Mutation_p.D304Y	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	450							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCGGCTGTCGGACCTGTACCA	0.627													7	40					5.4927e-09	1.35437e-08	1	0	T	77229484	G	T	77229484	3	4	284	1	0	0	0	0	1	0	0	0	9769	1174	41	2	1362	2	MON1B	16	77229484	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	24755627	77229484	13125269	105	50764											
WWOX	51741	broad.mit.edu	37	chr16	78198111	78198111	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagtcttttgccctccaTggtgcacatgtgatcttggc	6	13	10	12	0	2	1	0	1	2	0	3	1	3	1	3	2	2	1	3	2	1	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:78198111T>G	ENST00000566780.1	+	5	807	c.441T>G	c.(439-441)caT>caG	p.H147Q	WWOX_ENST00000406884.2_Missense_Mutation_p.H147Q|WWOX_ENST00000565791.1_3'UTR|WWOX_ENST00000355860.3_Missense_Mutation_p.H147Q|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.H147Q|WWOX_ENST00000539474.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	147	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTGCCCTCCATGGTGCACATG	0.443													15	34					0	0	0	0	G	78198111	T	G	78198111	3	3	284	1	0	0	0	0	1	0	0	0	17510	1461	51	5	463	5	WWOX	16	78198111	Missense_Mutation	SNP	T	TCGA-CV-7178-01A-21D-2012-08	968627	78198111	12156642	106	50765											
MC1R	4157	broad.mit.edu	37	chr16	89986186	89986186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgggtggccagtgtcGtcttcagcacgctcttcatc	5	12	10	14	2	5	0	2	0	3	0	7	0	5	0	2	2	1	2	2	2	0	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:89986186G>A	ENST00000555427.1	+	3	2823	c.520G>A	c.(520-522)Gtc>Atc	p.V174I	TUBB3_ENST00000556922.1_Missense_Mutation_p.V174I|MC1R_ENST00000555147.1_Missense_Mutation_p.V174I					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGCCAGTGTCGTCTTCAGCAC	0.632									Melanoma, Familial Clustering of				12	58					0	0	0	0	A	89986186	G	A	89986186	3	1	284	1	0	0	0	0	1	0	0	0	9432	1145	40	1	522	1	MC1R	16	89986186	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	11788075	89986186	368567	107	50766											
CYB5D2	124936	broad.mit.edu	37	chr17	4053285	4053285	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagatgctgacacttcaCaattggctttcattctatga	10	14	8	9	0	3	3	2	3	1	1	3	4	3	3	0	1	1	3	0	1	2	5			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:4053285C>T	ENST00000301391.3	+	2	851	c.351C>T	c.(349-351)caC>caT	p.H117H	CYB5D2_ENST00000575251.1_Silent_p.H5H|CYB5D2_ENST00000573984.1_Silent_p.H5H|CYB5D2_ENST00000575411.2_3'UTR	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	117	Cytochrome b5 heme-binding.				nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						TGACACTTCACAATTGGCTTT	0.493													32	36					0	0	0	0	T	4053285	C	T	4053285	2	4	284	1	0	0	0	0	0	0	0	1	4157	477	17	4		4	CYB5D2	17	4053285	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08		4053285	77141925	108	50767											
NLGN2	57555	broad.mit.edu	37	chr17	7318427	7318427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggagtgtctgcgccggaagCcctcccgggagctggtggac	5	7	17	12	3	1	0	0	0	1	0	2	4	2	4	3	5	3	1	3	5	1	0			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:7318427C>G	ENST00000302926.2	+	5	1070	c.997C>G	c.(997-999)Ccc>Gcc	p.P333A	NLGN2_ENST00000575301.1_Missense_Mutation_p.P333A	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	333					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCGCCGGAAGCCCTCCCGGGA	0.652													26	36					0	0	0	0	G	7318427	C	G	7318427	3	3	284	1	0	0	0	0	1	0	0	0	10532	739	26	4	1015	4	NLGN2	17	7318427	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	3265142	7318427	73876783	109	50768											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577137	+	In_Frame_Del	DEL	CGCACCTCAAAGCTGTTC	CGCACCTCAAAGCTGTTC	-																															tcccaggacaggcacaaacaCgcacctcaaagctgttccgt																								rs121912657	by1000genomes	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:7577120_7577137delCGCACCTCAAAGCTGTTC	ENST00000420246.2	-	8	933_950	c.801_818delGAACAGCTTTGAGGTGCG	c.(799-819)cgt>cg	p.RNSFEVR267del	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_In_Frame_Del_p.RNSFEVR267del|TP53_ENST00000445888.2_In_Frame_Del_p.RNSFEVR267del|TP53_ENST00000269305.4_In_Frame_Del_p.RNSFEVR267del|TP53_ENST00000359597.4_In_Frame_Del_p.RNSFEVR267del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273C(481)|p.R273L(93)|p.V272M(82)|p.R273P(32)|p.E271K(28)|p.V272L(26)|p.F270L(24)|p.E271*(18)|p.R273S(16)|p.F270C(15)|p.R273G(9)|p.F270S(8)|p.V272E(8)|p.0?(8)|p.F270V(7)|p.V272A(7)|p.E271V(6)|p.V272G(6)|p.F270Y(5)|p.F270I(5)|p.E271Q(5)|p.V272V(5)|p.S269C(4)|p.S269N(4)|p.R267R(4)|p.V272fs*73(4)|p.R273fs*72(3)|p.N268H(3)|p.?(3)|p.S269G(3)|p.S269S(3)|p.E271G(3)|p.E271D(3)|p.E271fs*74(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.V272>?(2)|p.N268fs*77(2)|p.N268N(2)|p.G262_S269delGNLLGRNS(2)|p.S269_F270>I(2)|p.S269T(2)|p.E271E(2)|p.E271fs*73(1)|p.S269fs*75(1)|p.G266_N268delGRN(1)|p.R273_C275delRVC(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.G262fs*2(1)|p.S269R(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269>XXXXX(1)|p.N268F(1)|p.N268fs*8(1)|p.S269fs*21(1)|p.G266fs*4(1)|p.L265_K305del41(1)|p.N268I(1)|p.S269_F270insX(1)|p.F270_D281del12(1)|p.L265_R267delLGR(1)|p.R267fs*78(1)|p.V272_K292del21(1)|p.S269fs*76(1)|p.S269fs*3(1)|p.V272fs*34(1)|p.E271P(1)|p.E271del(1)|p.N268S(1)|p.V272fs*74(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTA	0.537	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)|R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	33	---	---	---	---					-	7577137	CGCACCTCAAAGCTGTTC	-	7577120	7	5	284	1	0	1	0	1	0	0	0	0	16476	536	19	0	468	0	TP53	17	7577120	In_Frame_Del	DEL	CGCACCTCAAAGCTGTTC	TCGA-CV-7178-01A-21D-2012-08	258693	7577120	73618090	110	50769											
SMCR8	140775	broad.mit.edu	37	chr17	18219330	18219330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaacccttactgaccatccCcaatgacaccaaagtttttg	12	10	4	15	0	0	2	0	2	0	0	1	2	1	2	6	0	2	1	6	0	4	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:18219330C>A	ENST00000406438.3	+	1	707	c.227C>A	c.(226-228)cCc>cAc	p.P76H		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	76										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTGACCATCCCCAATGACACC	0.502													6	166					8.12818e-05	0.000188784	1	0	A	18219330	C	A	18219330	3	1	284	1	0	0	0	0	1	0	0	0	14880	623	22	4	229	4	SMCR8	17	18219330	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	10642210	18219330	62975880	111	50770											
PRPSAP2	5636	broad.mit.edu	37	chr17	18781170	18781170	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctaaattgctggcttccatGatgtgcaaagctggtaagaa	12	12	10	7	0	1	2	0	1	1	1	2	2	2	2	1	2	3	5	1	2	5	4			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:18781170G>C	ENST00000268835.2	+	6	682	c.399G>C	c.(397-399)atG>atC	p.M133I	PRPSAP2_ENST00000542013.1_Missense_Mutation_p.M133I|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.M93I|PRPSAP2_ENST00000536323.1_Missense_Mutation_p.M47I	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	133					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TGGCTTCCATGATGTGCAAAG	0.428													21	64					0	0	0	0	C	18781170	G	C	18781170	3	2	284	1	0	0	0	0	1	0	0	0	12662	1290	45	2	413	2	PRPSAP2	17	18781170	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	561840	18781170	62414040	112	50771											
SRCIN1	80725	broad.mit.edu	37	chr17	36734745	36734745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccgggagcccactcacctGctctcgcatcctgtcctgct	5	9	9	18	2	2	0	1	0	1	0	5	1	4	1	5	1	4	3	5	1	0	0			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:36734745G>C	ENST00000264659.7	-	2	546	c.322C>G	c.(322-324)Cag>Gag	p.Q108E	SRCIN1_ENST00000578925.1_Missense_Mutation_p.Q108E	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	133					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CCACTCACCTGCTCTCGCATC	0.701													6	21					0	0	0	0	C	36734745	G	C	36734745	3	2	284	1	0	0	0	0	1	0	0	0	15226	1328	46	4	3301	4	SRCIN1	17	36734745	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	17953575	36734745	44460465	113	50772											
VAT1	10493	broad.mit.edu	37	chr17	41174211	41174213	+	In_Frame_Del	DEL	GGC	GGC	-																															cagcgcagcagtggcggcgaGgcggcggcggcggcggcccc																										TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:41174211_41174213delGGC	ENST00000355653.3	-	1	222_224	c.127_129delGCC	c.(127-129)del	p.A43del	VAT1_ENST00000587173.1_In_Frame_Del_p.A43del	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	43						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		gtggcggcgaggcggcggcggcg	0.754													2	4	---	---	---	---					-	41174213	GGC	-	41174211	7	5	284	1	0	1	0	1	0	0	0	0	17225	987	35	0	1076	0	VAT1	17	41174211	In_Frame_Del	DEL	GGC	TCGA-CV-7178-01A-21D-2012-08	4439466	41174211	40020999	114	50773											
ERN1	2081	broad.mit.edu	37	chr17	62207374	62207376	+	In_Frame_Del	DEL	GCC	GCC	-																															cagcgtcagcagcagcagcaGccgccgggccggcatggcga																										TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:62207374_62207376delGCC	ENST00000433197.2	-	1	109_111	c.14_16delGGC	c.(13-18)ctg>c	p.RL5del	ERN1_ENST00000606895.1_In_Frame_Del_p.RL5del	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	5					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						agcagcagcagcCGCCGGGCCGG	0.783													2	4	---	---	---	---					-	62207376	GCC	-	62207374	7	5	284	1	0	1	0	1	0	0	0	0	5275	962	34	0	3005	0	ERN1	17	62207374	In_Frame_Del	DEL	GCC	TCGA-CV-7178-01A-21D-2012-08	21033163	62207374	18987836	115	50774											
TNFSF9	8744	broad.mit.edu	37	chr19	6532808	6532808	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttaacagggcatgtttgcGcagctggtggcccaaaatgg	9	11	13	8	1	0	0	0	0	0	0	0	0	0	0	1	4	3	4	1	4	3	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:6532808G>A	ENST00000245817.3	+	2	317	c.279G>A	c.(277-279)gcG>gcA	p.A93A		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	93					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						GCATGTTTGCGCAGCTGGTGG	0.577													56	71					0	0	0	0	A	6532808	G	A	6532808	2	1	284	1	0	0	0	0	0	0	0	1	16406	1074	38	1		1	TNFSF9	19	6532808	Silent	SNP	G	TCGA-CV-7178-01A-21D-2012-08		6532808	52596175	116	50775											
AP1M1	8907	broad.mit.edu	37	chr19	16319879	16319879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacaagctggaaacaggggCcccgcggccaccagccaccg	10	1	12	18	3	0	0	0	0	0	0	0	1	0	1	7	4	3	1	7	4	2	0			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:16319879C>T	ENST00000291439.3	+	5	886	c.437C>T	c.(436-438)gCc>gTc	p.A146V	AP1M1_ENST00000590756.1_Missense_Mutation_p.A74V|AP1M1_ENST00000444449.2_Missense_Mutation_p.A146V|AP1M1_ENST00000429941.2_Missense_Mutation_p.A146V|AP1M1_ENST00000541844.1_Missense_Mutation_p.A74V	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	146					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GAAACAGGGGCCCCGCGGCCA	0.612													27	49					0	0	0	0	T	16319879	C	T	16319879	3	4	284	1	0	0	0	0	1	0	0	0	735	739	26	4	455	4	AP1M1	19	16319879	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	9787071	16319879	42809104	117	50776											
NCAN	1463	broad.mit.edu	37	chr19	19330033	19330033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacgccacgctacttctggGgccactgagggccagtgact	8	7	12	14	2	1	2	0	2	1	0	1	2	1	2	3	3	2	1	3	3	2	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:19330033G>A	ENST00000252575.5	+	3	426	c.383G>A	c.(382-384)gGg>gAg	p.G128E		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	128	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTACTTCTGGGGCCACTGAGG	0.642													9	12					0	0	0	0	A	19330033	G	A	19330033	3	1	284	1	0	0	0	0	1	0	0	0	10274	1232	43	4	389	4	NCAN	19	19330033	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	3010154	19330033	39798950	118	50777											
ZNF100	163227	broad.mit.edu	37	chr19	21910770	21910770	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctctgcccaaaggtctTggggaaaatgagaacatata	13	9	10	9	0	2	1	0	1	2	1	2	3	2	2	2	3	3	1	2	3	6	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:21910770T>A	ENST00000358296.6	-	5	542	c.344A>T	c.(343-345)cAa>cTa	p.Q115L	ZNF100_ENST00000305570.6_Missense_Mutation_p.Q51L	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CCAAAGGTCTTGGGGAAAATG	0.303													7	29					0	0	0	0	A	21910770	T	A	21910770	3	1	284	1	0	0	0	0	1	0	0	0	17808	1812	63	5	1288	5	ZNF100	19	21910770	Missense_Mutation	SNP	T	TCGA-CV-7178-01A-21D-2012-08	2580737	21910770	37218213	119	50778											
NKPD1	284353	broad.mit.edu	37	chr19	45655923	45655923	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattcgccgcgccgcctcgTcgtcgatgcggccctgcccg	2	7	14	18	9	0	0	0	0	0	0	4	2	0	1	5	2	2	0	5	2	0	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	ead25229-da3f-49c0-9e0d-f76fcac9d337	g.chr19:45655923T>G	ENST00000317951.4	-	4	1771	c.1772A>C	c.(1771-1773)gAc>gCc	p.D591A	NKPD1_ENST00000429338.1_Missense_Mutation_p.D369A|NKPD1_ENST00000589776.1_Missense_Mutation_p.D369A|NKPD1_ENST00000438936.2_Missense_Mutation_p.D369A	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CGCCGCCTCGTCGTCGATGCG	0.741													3	4					0	0	0	0	G	45655923	T	G	45655923	3	3	284	1	0	0	0	0	1	0	0	0	10516	1667	58	5	730	5	NKPD1	19	45655923	Missense_Mutation	SNP	T	TCGA-CV-7178-01A-21D-2012-08	23745153	45655923	13473060	120	50779											
PRKCG	5582	broad.mit.edu	37	chr19	54401269	54401269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccttcccctagtcccacCgaccccaagcgctgcttctt	5	10	5	21	2	1	0	0	0	1	0	4	1	4	0	8	0	2	2	8	0	2	4			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:54401269C>T	ENST00000536044.1	+	9	1204	c.908C>T	c.(907-909)cCg>cTg	p.P303L	PRKCG_ENST00000540413.1_Silent_p.T332T|PRKCG_ENST00000542049.1_Silent_p.T219T|PRKCG_ENST00000263431.3_Silent_p.T332T			P05129	KPCG_HUMAN	protein kinase C, gamma	0					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		cTAGTCCCACCGACCCCAAGC	0.587													11	81					0	0	0	0	T	54401269	C	T	54401269	3	4	284	1	0	0	0	0	1	0	0	0	12592	639	23	1	1034	1	PRKCG	19	54401269	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	8745346	54401269	4727714	121	50780											
NLRP2	55655	broad.mit.edu	37	chr19	55495011	55495011	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgcgtcaagcactgtcgaAacctgcagaaaatgtcactg	12	9	9	11	2	3	1	2	0	1	1	4	2	3	1	1	0	4	2	1	0	4	0			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:55495011A>G	ENST00000543010.1	+	6	2088	c.1945A>G	c.(1945-1947)Aac>Gac	p.N649D	NLRP2_ENST00000263437.6_Missense_Mutation_p.N646D|NLRP2_ENST00000339757.7_Missense_Mutation_p.N627D|NLRP2_ENST00000427260.2_Missense_Mutation_p.N626D|NLRP2_ENST00000391721.4_Missense_Mutation_p.N625D|NLRP2_ENST00000538819.1_Missense_Mutation_p.N625D|NLRP2_ENST00000448584.2_Missense_Mutation_p.N649D|NLRP2_ENST00000537859.1_Missense_Mutation_p.N627D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	649					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCACTGTCGAAACCTGCAGAA	0.483													10	46					0	0	0	0	G	55495011	A	G	55495011	3	3	284	1	0	0	0	0	1	0	0	0	10547	14	1	5	1963	5	NLRP2	19	55495011	Missense_Mutation	SNP	A	TCGA-CV-7178-01A-21D-2012-08	1093742	55495011	3633972	122	50781											
FIZ1	84922	broad.mit.edu	37	chr19	56104200	56104200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctccaaggcggccagCgccgcgtacagagccccgca	7	4	12	18	5	0	1	0	0	0	1	2	1	2	1	6	2	4	3	6	2	2	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:56104200C>T	ENST00000221665.3	-	3	1196	c.1107G>A	c.(1105-1107)gcG>gcA	p.A369A		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGGCGGCCAGCGCCGCGTACA	0.766													4	7					0	0	0	0	T	56104200	C	T	56104200	2	4	284	1	0	0	0	0	0	0	0	1	5945	755	27	1		1	FIZ1	19	56104200	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08	609189	56104200	3024783	123	50782											
ZNF304	57343	broad.mit.edu	37	chr19	57868268	57868268	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtgaatgtggaaaagcctAcagcagaagctcccaccttg	13	7	10	11	0	0	2	0	1	0	1	1	3	1	3	3	1	4	2	3	1	5	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:57868268A>G	ENST00000391705.3	+	4	1315	c.1031A>G	c.(1030-1032)tAc>tGc	p.Y344C	ZNF304_ENST00000443917.2_Missense_Mutation_p.Y391C|ZNF304_ENST00000598744.1_Missense_Mutation_p.Y302C|ZNF304_ENST00000282286.5_Missense_Mutation_p.Y344C	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	344					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)		GGAAAAGCCTACAGCAGAAGC	0.473													16	37					0	0	0	0	G	57868268	A	G	57868268	3	3	284	1	0	0	0	0	1	0	0	0	17928	391	14	5	1041	5	ZNF304	19	57868268	Missense_Mutation	SNP	A	TCGA-CV-7178-01A-21D-2012-08	1764068	57868268	1260715	124	50783											
TRIB3	57761	broad.mit.edu	37	chr20	368670	368670	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagatgcgagccacccctCtggctgctcctgcgggttcc	5	8	11	17	2	1	1	0	0	1	1	3	2	3	1	6	2	4	3	6	2	0	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:368670C>T	ENST00000217233.3	+	2	569	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	TRIB3_ENST00000422053.2_Silent_p.L33L|TRIB3_ENST00000485293.1_3'UTR	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	6					apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		AGCCACCCCTCTGGCTGCTCC	0.572													19	76					0	0	0	0	T	368670	C	T	368670	2	4	284	1	0	0	0	0	0	0	0	1	16579	912	32	2		2	TRIB3	20	368670	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08		368670	62656850	125	50784											
SNPH	9751	broad.mit.edu	37	chr20	1285638	1285638	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaggcccgaaaggagaTcaagcagctcaagcaggtca	15	3	14	9	1	3	1	3	0	0	1	3	5	3	2	1	4	3	3	1	4	4	0			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:1285638T>A	ENST00000381867.1	+	7	1199	c.557T>A	c.(556-558)aTc>aAc	p.I186N	SNPH_ENST00000381873.3_Missense_Mutation_p.I142N			O15079	SNPH_HUMAN	syntaphilin	142					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CGAAAGGAGATCAAGCAGCTC	0.562													34	94					0	0	0	0	A	1285638	T	A	1285638	3	1	284	1	0	0	0	0	1	0	0	0	14938	1435	50	5	439	5	SNPH	20	1285638	Missense_Mutation	SNP	T	TCGA-CV-7178-01A-21D-2012-08	916968	1285638	61739882	126	50785											
CDS2	8760	broad.mit.edu	37	chr20	5169722	5169722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttctcagaaaacggtcCggatgtaccccttccagatt	10	11	7	13	2	2	2	1	0	2	2	5	3	4	3	4	2	2	1	4	2	3	4			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:5169722C>T	ENST00000460006.1	+	11	1298	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	CDS2_ENST00000535100.1_Missense_Mutation_p.R101W|CDS2_ENST00000379062.4_Missense_Mutation_p.R211W|CDS2_ENST00000379070.3_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	331					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GAAAACGGTCCGGATGTACCC	0.458													29	109					0	0	0	0	T	5169722	C	T	5169722	3	4	284	1	0	0	0	0	1	0	0	0	3207	643	23	1	1033	1	CDS2	20	5169722	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	3884084	5169722	57855798	127	50786											
PLCB1	23236	broad.mit.edu	37	chr20	8608996	8608996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgggcgcctggagcagcGcatgatcacagtggtgtatg	8	8	15	10	3	1	1	1	1	0	0	2	2	1	2	1	3	2	3	1	3	1	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:8608996G>A	ENST00000378641.3	+	4	777	c.302G>A	c.(301-303)cGc>cAc	p.R101H	PLCB1_ENST00000378637.2_Missense_Mutation_p.R101H|PLCB1_ENST00000338037.6_Missense_Mutation_p.R101H	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	101					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGGAGCAGCGCATGATCACA	0.453													31	75					0	0	0	0	A	8608996	G	A	8608996	3	1	284	1	0	0	0	0	1	0	0	0	12099	1087	38	1	316	1	PLCB1	20	8608996	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	3439274	8608996	54416524	128	50787											
FLRT3	23767	broad.mit.edu	37	chr20	14307545	14307545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttccatctagaaccaggCgttttagactagtgagacct	10	12	10	9	1	1	3	0	1	1	3	2	4	2	3	3	2	1	2	3	2	4	5			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:14307545C>T	ENST00000378053.3	-	2	864	c.608G>A	c.(607-609)cGc>cAc	p.R203H	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.R203H|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	203					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.R203H(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TAGAACCAGGCGTTTTAGACT	0.438													33	64					0	0	0	0	T	14307545	C	T	14307545	3	4	284	1	0	0	0	0	1	0	0	0	5985	768	27	1	1345	1	FLRT3	20	14307545	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	5698549	14307545	48717975	129	50788											
EPB41L1	2036	broad.mit.edu	37	chr20	34797434	34797434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggctgagggagggctccGaggagaaagtcaaaccacca	13	3	15	10	1	1	2	1	1	0	1	2	5	2	3	3	4	1	2	3	4	2	0			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:34797434G>A	ENST00000338074.2	+	15	1854	c.1693G>A	c.(1693-1695)Gag>Aag	p.E565K	EPB41L1_ENST00000441639.1_Missense_Mutation_p.E491K|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E491K|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E565K|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E456K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	565					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGAGGGCTCCGAGGAGAAAGT	0.552													6	32					0	0	0	0	A	34797434	G	A	34797434	3	1	284	1	0	0	0	0	1	0	0	0	5190	1059	37	1	1747	1	EPB41L1	20	34797434	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	20489889	34797434	28228086	130	50789											
DBNDD2	55861	broad.mit.edu	37	chr20	44037000	44037000	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggagccaggggccccaCtgttgggatgctggctgcag	5	6	18	12	1	0	0	0	0	0	0	0	2	0	2	4	6	3	4	4	6	0	1			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:44037000C>G	ENST00000372720.3	+	2	418	c.187C>G	c.(187-189)Ctg>Gtg	p.L63V	SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|DBNDD2_ENST00000357275.2_Intron|DBNDD2_ENST00000372723.3_Intron|DBNDD2_ENST00000372722.3_Intron|DBNDD2_ENST00000360981.4_Intron|DBNDD2_ENST00000372710.3_Missense_Mutation_p.L67V|DBNDD2_ENST00000372712.2_Intron|DBNDD2_ENST00000372717.1_Intron	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	63					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				AGGGGCCCCACTGTTGGGATG	0.602													6	15					0	0	0	0	G	44037000	C	G	44037000	3	3	284	1	0	0	0	0	1	0	0	0	4287	580	20	4		4	DBNDD2	20	44037000	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	9239566	44037000	18988520	131	50790											
TCFL5	10732	broad.mit.edu	37	chr20	61488773	61488773	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctctttccattcggttatgCctctccctacgttgagacct	5	16	6	14	2	2	1	0	1	2	1	6	2	3	1	4	1	2	2	4	1	2	5			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:61488773C>T	ENST00000335351.3	-	4	1304	c.1212G>A	c.(1210-1212)agG>agA	p.R404R	TCFL5_ENST00000217162.5_Silent_p.R356R	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	404					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TTCGGTTATGCCTCTCCCTAC	0.522													5	218					0	0	0	0	T	61488773	C	T	61488773	2	4	284	1	0	0	0	0	0	0	0	1	15793	738	26	4		4	TCFL5	20	61488773	Silent	SNP	C	TCGA-CV-7178-01A-21D-2012-08	17451773	61488773	1536747	132	50791											
EP300	2033	broad.mit.edu	37	chr22	41489079	41489079	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcatctccggccctctCggcgtccgccagcgatggca	5	8	10	18	5	3	0	1	0	3	0	7	1	4	0	4	3	1	1	4	3	0	0			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr22:41489079C>A	ENST00000263253.7	+	1	1290	c.71C>A	c.(70-72)tCg>tAg	p.S24*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	24	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCGGCCCTCTCGGCGTCCGCC	0.542			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				19	105					1.67942e-08	4.11285e-08	1	0	A	41489079	C	A	41489079	4	1	284	1	0	0	0	0	0	1	0	0	5186	893	31	3	73	3	EP300	22	41489079	Nonsense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08		41489079	9815487	133	50792											
SHANK3	85358	broad.mit.edu	37	chr22	51143288	51143288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacgggagacttcctcatcGaggtgaggtcgttctggccg	6	9	15	11	4	2	2	1	1	1	1	5	4	3	2	2	4	0	2	2	4	0	2			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr22:51143288G>A	ENST00000414786.2	+	15	2079	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	SHANK3_ENST00000445220.2_Missense_Mutation_p.E633K|SHANK3_ENST00000262795.3_Missense_Mutation_p.E648K			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	648										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTTCCTCATCGAGGTGAGGTC	0.692													9	47					0	0	0	0	A	51143288	G	A	51143288	3	1	284	1	0	0	0	0	1	0	0	0	14354	1059	37	1	2004	1	SHANK3	22	51143288	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08	9654209	51143288	161278	134	50793											
ZXDB	158586	broad.mit.edu	37	chrX	57619097	57619097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcctgcccagcagcccGggtgtctgatcgccccgcaa	5	6	11	19	4	1	1	0	1	1	0	3	1	2	1	6	1	3	3	6	1	1	0			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711													3	24					0	0	0	0	A	57619097	G	A	57619097	3	1	284	1	0	0	0	0	1	0	0	0	18342	1116	39	1	618	1	ZXDB	23	57619097	Missense_Mutation	SNP	G	TCGA-CV-7178-01A-21D-2012-08		57619097	97651463	135	50794											
ZCCHC5	203430	broad.mit.edu	37	chrX	77912862	77912862	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccagagagtgctttcatcCcagttcagctcttgagcaat	10	12	8	11	0	3	2	2	1	1	1	5	3	5	2	2	0	3	4	2	0	1	3			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chrX:77912862C>G	ENST00000321110.1	-	2	1351	c.1056G>C	c.(1054-1056)tgG>tgC	p.W352C		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	352							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGCTTTCATCCCAGTTCAGCT	0.478													18	40					0	0	0	0	G	77912862	C	G	77912862	3	3	284	1	0	0	0	0	1	0	0	0	17686	624	22	4	375	4	ZCCHC5	23	77912862	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	20293765	77912862	77357698	136	50795											
FRMD7	90167	broad.mit.edu	37	chrX	131212552	131212553	+	Frame_Shift_Ins	INS	-	-	A																															ctggggtggcttgtccacatINSaaaaaaagacctggggaggc																										TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chrX:131212552_131212553insA	ENST00000298542.4	-	12	1667_1668	c.1492_1493insT	c.(1492-1494)tgtfs	p.C498fs	FRMD7_ENST00000464296.1_Frame_Shift_Ins_p.C483fs|FRMD7_ENST00000370879.1_Frame_Shift_Ins_p.C378fs	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	498					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CTTGTCCACATAAAAAAAGACC	0.5													32	146	---	---	---	---					A	131212553	-	A	131212552	7	5	284	1	0	1	1	0	0	0	0	0	6103	1406	49	0	655	0	FRMD7	23	131212552	Frame_Shift_Ins	INS	-	TCGA-CV-7178-01A-21D-2012-08	53299690	131212552	24058008	137	50796											
SPANXN2	494119	broad.mit.edu	37	chrX	142795518	142795518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttcctgtagtaatacaCtattattgttagatattcta	12	18	5	6	0	1	1	0	0	1	1	2	1	2	1	1	0	2	4	1	0	8	11			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chrX:142795518C>A	ENST00000370498.1	-	2	913	c.160G>T	c.(160-162)Gtg>Ttg	p.V54L		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	54										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTAATACACTATTATTGTT	0.433													52	88					1.19451e-25	3.0716e-25	1	0	A	142795518	C	A	142795518	3	1	284	1	0	0	0	0	1	0	0	0	15081	565	20	4	386	4	SPANXN2	23	142795518	Missense_Mutation	SNP	C	TCGA-CV-7178-01A-21D-2012-08	11582966	142795518	12475042	138	50797											
VPS13D	55187	broad.mit.edu	37	chr1	12331121	12331121	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacaatataacaagctgaaGatgcagaccaaggcagaaat	20	5	9	7	0	0	5	0	1	0	4	0	5	0	5	1	1	3	3	1	1	7	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:12331121G>A	ENST00000358136.3	+	17	2173	c.2043G>A	c.(2041-2043)aaG>aaA	p.K681K	VPS13D_ENST00000356315.4_Silent_p.K681K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	681					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACAAGCTGAAGATGCAGACCA	0.458													4	52					0	0	0	0	A	12331121	G	A	12331121	2	1	285	1	0	0	0	0	0	0	0	1	17288	933	33	2		2	VPS13D	1	12331121	Silent	SNP	G	TCGA-CV-7180-01A-11D-2012-08		12331121	236919500	1	50798											
NFYC	4802	broad.mit.edu	37	chr1	41228713	41228713	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaggagagatccagcagAtcccggtgagtcctgccctg	10	6	12	13	1	0	3	0	1	0	2	3	5	3	4	4	2	2	1	4	2	0	0			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:41228713A>T	ENST00000372652.1	+	7	983	c.715A>T	c.(715-717)Atc>Ttc	p.I239F	NFYC_ENST00000425457.2_Missense_Mutation_p.I239F|NFYC_ENST00000427410.2_Missense_Mutation_p.I201F|NFYC_ENST00000372651.1_Missense_Mutation_p.I239F|NFYC_ENST00000372653.1_Missense_Mutation_p.I205F|NFYC_ENST00000372654.1_Missense_Mutation_p.I239F|NFYC_ENST00000308733.5_Missense_Mutation_p.I239F|NFYC_ENST00000456393.2_Missense_Mutation_p.I239F|NFYC_ENST00000447388.3_Missense_Mutation_p.I239F|NFYC_ENST00000440226.3_Missense_Mutation_p.I239F			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	239					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GATCCAGCAGATCCCGGTGAG	0.448													8	11					0	0	0	0	T	41228713	A	T	41228713	3	4	285	1	0	0	0	0	1	0	0	0	10461	333	12	5	737	5	NFYC	1	41228713	Missense_Mutation	SNP	A	TCGA-CV-7180-01A-11D-2012-08	28897592	41228713	208021908	2	50799											
ACOT11	26027	broad.mit.edu	37	chr1	55058224	55058224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttcctctccccagtgttgGacaagtggtgaatatcaagg	9	12	10	10	0	2	1	1	1	1	0	4	2	3	2	3	3	0	1	3	3	4	3			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:55058224G>T	ENST00000371316.3	+	4	399	c.317G>T	c.(316-318)gGa>gTa	p.G106V	ACOT11_ENST00000343744.2_Missense_Mutation_p.G106V|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	106	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCCAGTGTTGGACAAGTGGTG	0.607													13	53					4.36969e-10	5.58657e-10	1	0	T	55058224	G	T	55058224	3	4	285	1	0	0	0	0	1	0	0	0	149	1174	41	2	331	2	ACOT11	1	55058224	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08	13829511	55058224	194192397	3	50800											
CCDC18	343099	broad.mit.edu	37	chr1	93680428	93680428	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaagctgaaaattctgatTtgaaggttaacatggctcac	14	12	9	6	0	2	4	1	3	1	1	2	4	2	4	0	2	2	3	0	2	6	4			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:93680428T>A	ENST00000343253.7	+	12	2123	c.1621T>A	c.(1621-1623)Ttg>Atg	p.L541M	CCDC18_ENST00000557479.1_Missense_Mutation_p.L660M|CCDC18_ENST00000401026.3_Missense_Mutation_p.L542M|CCDC18_ENST00000338949.4_Missense_Mutation_p.L341M|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	541										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAATTCTGATTTGAAGGTTAA	0.378													3	27					0	0	0	0	A	93680428	T	A	93680428	3	1	285	1	0	0	0	0	1	0	0	0	2820	1838	64	5	2024	5	CCDC18	1	93680428	Missense_Mutation	SNP	T	TCGA-CV-7180-01A-11D-2012-08	38622204	93680428	155570193	4	50801											
VPS72	6944	broad.mit.edu	37	chr1	151149264	151149264	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtaagcctcacgaatgatCttgaaggctcgagcagtggc	10	10	12	9	2	2	2	1	2	1	0	3	4	2	2	1	2	2	3	1	2	3	3			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:151149264C>T	ENST00000354473.4	-	6	1020	c.984G>A	c.(982-984)aaG>aaA	p.K328K	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	317					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACGAATGATCTTGAAGGCTC	0.597													8	88					0	0	0	0	T	151149264	C	T	151149264	2	4	285	1	0	0	0	0	0	0	0	1	17313	912	32	2		2	VPS72	1	151149264	Silent	SNP	C	TCGA-CV-7180-01A-11D-2012-08	57468836	151149264	98101357	5	50802											
LINGO4	339398	broad.mit.edu	37	chr1	151774040	151774040	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcacaggcagggggggAcatgccaaagtccaggtggc	10	3	17	11	0	0	0	0	0	0	0	1	1	1	1	3	6	2	2	3	6	1	0			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:151774040A>G	ENST00000368820.3	-	2	2078	c.1141T>C	c.(1141-1143)Tcc>Ccc	p.S381P		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	381	LRRCT.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGGGGGGGACATGCCAAAG	0.622													10	55					0	0	0	0	G	151774040	A	G	151774040	3	3	285	1	0	0	0	0	1	0	0	0	8872	275	10	5	644	5	LINGO4	1	151774040	Missense_Mutation	SNP	A	TCGA-CV-7180-01A-11D-2012-08	624776	151774040	97476581	6	50803											
PAPPA2	60676	broad.mit.edu	37	chr1	176661264	176661264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttttttgtctccacagatGataactgcactgacaacttc	10	14	5	12	0	1	3	0	2	1	1	3	3	1	3	2	0	3	1	2	0	2	5			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:176661264G>A	ENST00000367662.3	+	6	3598	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	812					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCCACAGATGATAACTGCAC	0.458											OREG0014001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	76					0	0	0	0	A	176661264	G	A	176661264	3	1	285	1	0	0	0	0	1	0	0	0	11504	1290	45	2	2505	2	PAPPA2	1	176661264	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08	24887224	176661264	72589357	7	50804											
CFHR2	3080	broad.mit.edu	37	chr1	196918742	196918742	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttggactcgcataacgtgCgcagaagaaggatggtcacc	11	9	12	9	3	1	2	1	0	0	2	2	4	1	4	1	3	2	2	1	3	3	3			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:196918742C>T	ENST00000367415.4	+	2	330	c.216C>T	c.(214-216)tgC>tgT	p.C72C	CFHR2_ENST00000367421.3_Silent_p.C72C|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	72	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GCATAACGTGCGCAGAAGAAG	0.408													9	21					0	0	0	0	T	196918742	C	T	196918742	2	4	285	1	0	0	0	0	0	0	0	1	3314	776	27	1		1	CFHR2	1	196918742	Silent	SNP	C	TCGA-CV-7180-01A-11D-2012-08	20257478	196918742	52331879	8	50805											
NFASC	23114	broad.mit.edu	37	chr1	204978741	204978741	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggttcattgggcttatgTgcgccatcgccctcctggtg	3	13	13	12	2	1	0	1	0	0	0	3	0	2	0	3	3	1	3	3	3	1	3			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:204978741T>G	ENST00000367172.4	+	30	3995	c.3667T>G	c.(3667-3669)Tgc>Ggc	p.C1223G	NFASC_ENST00000339876.6_Missense_Mutation_p.C1116G|NFASC_ENST00000338586.6_Missense_Mutation_p.C1100G|NFASC_ENST00000404907.1_Missense_Mutation_p.C1050G|NFASC_ENST00000401399.1_Missense_Mutation_p.C1116G|NFASC_ENST00000360049.4_Missense_Mutation_p.C1045G|NFASC_ENST00000367169.4_Missense_Mutation_p.C947G|NFASC_ENST00000539706.1_Missense_Mutation_p.C1050G|NFASC_ENST00000338515.6_Missense_Mutation_p.C1133G|NFASC_ENST00000404076.1_Missense_Mutation_p.C1033G|NFASC_ENST00000513543.1_Missense_Mutation_p.C1045G|NFASC_ENST00000367171.4_Missense_Mutation_p.C1208G|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367170.4_Missense_Mutation_p.C1144G			O94856	NFASC_HUMAN	neurofascin	1223					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGGGCTTATGTGCGCCATCGC	0.592													7	49					0	0	0	0	G	204978741	T	G	204978741	3	3	285	1	0	0	0	0	1	0	0	0	10429	1696	59	5	3861	5	NFASC	1	204978741	Missense_Mutation	SNP	T	TCGA-CV-7180-01A-11D-2012-08	8059999	204978741	44271880	9	50806											
VASH2	79805	broad.mit.edu	37	chr1	213147325	213147325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcaagtgcccactctcCgacccaagtgagaagccggg	10	5	11	15	2	1	1	0	1	1	1	2	3	1	1	5	1	3	1	5	1	3	0			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:213147325C>T	ENST00000366968.4	+	8	1063	c.713C>T	c.(712-714)cCg>cTg	p.P238L	VASH2_ENST00000366966.2_Missense_Mutation_p.P238L|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366967.2_Missense_Mutation_p.P199L|VASH2_ENST00000366965.2_Missense_Mutation_p.P259L|VASH2_ENST00000517399.1_Missense_Mutation_p.P303L	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	303					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		GCCCACTCTCCGACCCAAGTG	0.567													4	58					0	0	0	0	T	213147325	C	T	213147325	3	4	285	1	0	0	0	0	1	0	0	0	17222	652	23	1	930	1	VASH2	1	213147325	Missense_Mutation	SNP	C	TCGA-CV-7180-01A-11D-2012-08	8168584	213147325	36103296	10	50807											
DISP1	84976	broad.mit.edu	37	chr1	223178539	223178539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgtcacttcttctctcTgaatcagagatgtagctgcc	7	14	9	11	1	5	2	2	1	3	1	6	3	5	2	1	0	2	2	1	0	2	3			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:223178539T>C	ENST00000284476.6	+	8	3964	c.3800T>C	c.(3799-3801)cTg>cCg	p.L1267P		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1267					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTCTTCTCTCTGAATCAGAGA	0.517													3	149					0	0	0	0	C	223178539	T	C	223178539	3	2	285	1	0	0	0	0	1	0	0	0	4576	1580	55	5	3826	5	DISP1	1	223178539	Missense_Mutation	SNP	T	TCGA-CV-7180-01A-11D-2012-08	10031214	223178539	26072082	11	50808											
OBSCN	84033	broad.mit.edu	37	chr1	228467143	228467143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgcccgcctggtggtctCaggtgagcactcccgccccg	3	8	12	18	3	2	1	1	1	2	0	4	1	3	1	5	3	2	1	5	3	0	0			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:228467143C>T	ENST00000570156.2	+	32	8755	c.8681C>T	c.(8680-8682)tCa>tTa	p.S2894L	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.S1312L|OBSCN_ENST00000284548.11_Missense_Mutation_p.S2465L|OBSCN_ENST00000422127.1_Missense_Mutation_p.S2465L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1894	Ig-like 28.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGTGGTCTCAGGTGAGCAC	0.682													4	38					0	0	0	0	T	228467143	C	T	228467143	3	4	285	1	0	0	0	0	1	0	0	0	10883	838	29	2	7496	2	OBSCN	1	228467143	Missense_Mutation	SNP	C	TCGA-CV-7180-01A-11D-2012-08	5288604	228467143	20783478	12	50809											
SLC30A3	7781	broad.mit.edu	37	chr2	27480853	27480853	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagtcgctgtgcagcaggcgGacgaaggccaggtacaggag	10	5	17	9	3	0	0	0	0	0	0	1	3	0	2	1	5	3	4	1	5	3	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:27480853G>T	ENST00000233535.4	-	4	850	c.498C>A	c.(496-498)gtC>gtA	p.V166V	SLC30A3_ENST00000447008.2_Silent_p.V161V	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	166					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCAGGCGGACGAAGGCCA	0.627													13	42					1.61879e-10	2.09613e-10	1	0	T	27480853	G	T	27480853	2	4	285	1	0	0	0	0	0	0	0	1	14644	1161	41	2		2	SLC30A3	2	27480853	Silent	SNP	G	TCGA-CV-7180-01A-11D-2012-08		27480853	215718520	13	50810											
SLC30A6	55676	broad.mit.edu	37	chr2	32422829	32422829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccttccccgaatgaatcCatttgttttgattgatcttg	7	18	6	10	1	1	3	0	3	1	0	4	4	4	3	4	0	0	1	4	0	2	7			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:32422829C>A	ENST00000282587.5	+	10	636	c.599C>A	c.(598-600)cCa>cAa	p.P200Q	SLC30A6_ENST00000406369.1_Missense_Mutation_p.P126Q|SLC30A6_ENST00000357055.3_Missense_Mutation_p.P3Q|SLC30A6_ENST00000538303.1_Missense_Mutation_p.P171Q|SLC30A6_ENST00000435660.1_Missense_Mutation_p.P200Q|SLC30A6_ENST00000379343.2_Missense_Mutation_p.P240Q	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	200						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CGAATGAATCCATTTGTTTTG	0.338													23	77					1.37657e-19	1.82938e-19	1	0	A	32422829	C	A	32422829	3	1	285	1	0	0	0	0	1	0	0	0	14647	594	21	4	637	4	SLC30A6	2	32422829	Missense_Mutation	SNP	C	TCGA-CV-7180-01A-11D-2012-08	4941976	32422829	210776544	14	50811											
BCL11A	53335	broad.mit.edu	37	chr2	60688312	60688312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagtgtccctgtggccctCggcctcggccaggtggccgc	3	7	15	16	3	0	0	0	0	0	0	3	0	1	0	5	5	0	1	5	5	1	0			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:60688312C>T	ENST00000335712.6	-	4	1962	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	BCL11A_ENST00000356842.4_Missense_Mutation_p.E579K|BCL11A_ENST00000358510.4_Missense_Mutation_p.E545K|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.E248K|BCL11A_ENST00000538214.1_Missense_Mutation_p.E545K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	579					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTGTGGCCCTCGGCCTCGGCC	0.667			T	IGH@	B-CLL								5	39					0	0	0	0	T	60688312	C	T	60688312	3	4	285	1	0	0	0	0	1	0	0	0	1367	893	31	1	882	1	BCL11A	2	60688312	Missense_Mutation	SNP	C	TCGA-CV-7180-01A-11D-2012-08	28265483	60688312	182511061	15	50812											
GPAT2	150763	broad.mit.edu	37	chr2	96689170	96689170	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgccctgtgtcacaggCtggccgggagcctggggtct	3	9	16	13	2	2	0	1	0	1	0	3	1	2	1	3	5	1	1	3	5	0	0			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:96689170C>A	ENST00000434632.1	-	19	2374	c.1915G>T	c.(1915-1917)Gcc>Tcc	p.A639S	GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000359548.4_Missense_Mutation_p.A639S|GPAT2_ENST00000453542.1_Missense_Mutation_p.A568S			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	639					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GTGTCACAGGCTGGCCGGGAG	0.587													5	47					3.59834e-05	4.27567e-05	1	0	A	96689170	C	A	96689170	3	1	285	1	0	0	0	0	1	0	0	0	6638	797	28	4	492	4	GPAT2	2	96689170	Missense_Mutation	SNP	C	TCGA-CV-7180-01A-11D-2012-08	36000858	96689170	146510203	16	50813											
NMS	129521	broad.mit.edu	37	chr2	101096979	101096979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcggggactgctgcagtgGacttcaccaagaaggtacac	10	7	13	11	1	1	1	1	0	0	1	2	3	1	3	1	4	3	4	1	4	3	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:101096979G>T	ENST00000376865.1	+	7	365	c.358G>T	c.(358-360)Gac>Tac	p.D120Y		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	120					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TGCTGCAGTGGACTTCACCAA	0.557													11	48					2.62699e-14	3.44579e-14	1	0	T	101096979	G	T	101096979	3	4	285	1	0	0	0	0	1	0	0	0	10572	1174	41	2	384	2	NMS	2	101096979	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08	4407809	101096979	142102394	17	50814											
NEB	4703	broad.mit.edu	37	chr2	152534283	152534283	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagtcttccttgtagacGttctacagcaatggagaaaa	12	13	9	7	1	2	2	0	0	2	2	3	3	3	2	1	1	2	4	1	1	6	7			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:152534283G>A	ENST00000427231.2	-	34	3772	c.3570C>T	c.(3568-3570)aaC>aaT	p.N1190N	NEB_ENST00000604864.1_Silent_p.N1190N|NEB_ENST00000172853.10_Silent_p.N1190N|NEB_ENST00000603639.1_Silent_p.N1190N|NEB_ENST00000409198.1_Silent_p.N1190N|NEB_ENST00000397345.3_Silent_p.N1190N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1190					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTTGTAGACGTTCTACAGCA	0.463													43	166					0	0	0	0	A	152534283	G	A	152534283	2	1	285	1	0	0	0	0	0	0	0	1	10372	1136	40	1		1	NEB	2	152534283	Silent	SNP	G	TCGA-CV-7180-01A-11D-2012-08	51437304	152534283	90665090	18	50815											
PLA2R1	22925	broad.mit.edu	37	chr2	160825846	160825846	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtgtcccagttctggtaTatcactggtgttccatctct	5	16	8	12	0	3	0	1	0	2	0	6	0	5	0	3	2	0	3	3	2	2	4			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:160825846T>C	ENST00000283243.7	-	19	2891	c.2685A>G	c.(2683-2685)atA>atG	p.I895M	PLA2R1_ENST00000392771.1_Missense_Mutation_p.I895M	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	895	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGTTCTGGTATATCACTGGTG	0.393													8	41					0	0	0	0	C	160825846	T	C	160825846	3	2	285	1	0	0	0	0	1	0	0	0	12082	1396	49	5	1762	5	PLA2R1	2	160825846	Missense_Mutation	SNP	T	TCGA-CV-7180-01A-11D-2012-08	8291563	160825846	82373527	19	50816											
UGT1A10	54575	broad.mit.edu	37	chr2	234545236	234545236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgctgacctgtggctttgCcgaggcagggaagctgctgg	6	9	16	10	1	0	1	0	1	0	0	0	3	0	2	2	4	4	5	2	4	1	1			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:234545236C>T	ENST00000344644.5	+	1	137	c.68C>T	c.(67-69)gCc>gTc	p.A23V	UGT1A10_ENST00000373445.1_Missense_Mutation_p.A23V|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGTGGCTTTGCCGAGGCAGGG	0.592													4	101					0	0	0	0	T	234545236	C	T	234545236	3	4	285	1	0	0	0	0	1	0	0	0	17041	739	26	4	70	4	UGT1A10	2	234545236	Missense_Mutation	SNP	C	TCGA-CV-7180-01A-11D-2012-08	73719390	234545236	8654137	20	50817											
BSN	8927	broad.mit.edu	37	chr3	49688471	49688471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacctgccacccctgtcGtcaaggctgttccagaagcc	8	8	9	16	1	1	2	1	1	0	1	3	2	2	2	6	1	3	2	6	1	3	1			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr3:49688471G>A	ENST00000296452.4	+	4	2059	c.1945G>A	c.(1945-1947)Gtc>Atc	p.V649I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	649					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACCCCTGTCGTCAAGGCTGT	0.592													9	55					0	0	0	0	A	49688471	G	A	49688471	3	1	285	1	0	0	0	0	1	0	0	0	1538	1145	40	1	1959	1	BSN	3	49688471	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08		49688471	148333959	21	50818											
HTT	3064	broad.mit.edu	37	chr4	3156043	3156043	+	Frame_Shift_Del	DEL	C	C	-																															gccttgccttctctaacaaaCcccccttctctaagtcccat																										TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr4:3156043delC	ENST00000355072.5	+	27	3667	c.3522delC	c.(3520-3522)aafs	p.N1174fs		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1174					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTCTAACAAACCCCCCTTCTC	0.408													5	9	---	---	---	---					-	3156043	C	-	3156043	7	5	285	1	0	1	0	1	0	0	0	0	7510	506	18	0	3628	0	HTT	4	3156043	Frame_Shift_Del	DEL	C	TCGA-CV-7180-01A-11D-2012-08		3156043	187998233	22	50819											
EMCN	51705	broad.mit.edu	37	chr4	101386581	101386581	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaatcctcatacttactCttgggtttggaactttgtaa	11	15	6	9	0	2	0	1	0	1	0	3	1	3	1	1	2	3	2	1	2	5	6			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr4:101386581C>A	ENST00000296420.4	-	4	553	c.376_splice	c.e4+1	p.K125_splice	EMCN_ENST00000305864.3_Splice_Site_p.K125_splice|EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000511970.1_Splice_Site_p.K125_splice	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	125	Thr-rich.					extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		CATACTTACTCTTGGGTTTGG	0.373													16	48					4.7546e-09	6.00269e-09	1	0	A	101386581	C	A	101386581	5	1	285	1	0	0	0	0	0	0	1	0	5124	927	32	2	442	2	EMCN	4	101386581	Splice_Site	SNP	C	TCGA-CV-7180-01A-11D-2012-08	98230538	101386581	89767695	23	50820											
TBCK	93627	broad.mit.edu	37	chr4	107170083	107170083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattaatgacaaacctttaTaatgtccaaacaaccatgct	17	11	4	9	0	0	2	0	1	0	1	1	2	1	2	3	0	4	1	3	0	6	4			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr4:107170083T>C	ENST00000273980.4	-	9	1162	c.715A>G	c.(715-717)Ata>Gta	p.I239V	TBCK_ENST00000394708.2_Missense_Mutation_p.I239V|TBCK_ENST00000361687.4_Missense_Mutation_p.I176V|TBCK_ENST00000432496.2_Missense_Mutation_p.I239V|TBCK_ENST00000394706.3_Missense_Mutation_p.I200V			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	239	Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CAAACCTTTATAATGTCCAAA	0.294													7	19					0	0	0	0	C	107170083	T	C	107170083	3	2	285	1	0	0	0	0	1	0	0	0	15730	1406	49	5	2042	5	TBCK	4	107170083	Missense_Mutation	SNP	T	TCGA-CV-7180-01A-11D-2012-08	5783502	107170083	83984193	24	50821											
CDH18	1016	broad.mit.edu	37	chr5	19721469	19721469	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactaacctgttttagggtcGacggagaagtagggttgtcc	9	11	13	8	2	0	1	0	0	0	1	2	3	1	1	2	3	1	3	2	3	4	5			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr5:19721469G>A	ENST00000507958.1	-	7	1620	c.630C>T	c.(628-630)gtC>gtT	p.V210V	CDH18_ENST00000274170.4_Silent_p.V210V|CDH18_ENST00000506372.1_Silent_p.V210V|CDH18_ENST00000382275.1_Silent_p.V210V|CDH18_ENST00000502796.1_Silent_p.V210V|CDH18_ENST00000511273.1_Silent_p.V210V			Q13634	CAD18_HUMAN	cadherin 18, type 2	210	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)					TTTTAGGGTCGACGGAGAAGT	0.453													22	70					0	0	0	0	A	19721469	G	A	19721469	2	1	285	1	0	0	0	0	0	0	0	1	3132	1045	37	1		1	CDH18	5	19721469	Silent	SNP	G	TCGA-CV-7180-01A-11D-2012-08		19721469	161193791	25	50822											
PDE4D	5144	broad.mit.edu	37	chr5	58270507	58270507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgttacgtgtcaggagaaCgatcatctatgacacaggct	12	10	10	9	2	3	2	2	1	1	1	3	4	3	2	0	2	2	2	0	2	3	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr5:58270507C>T	ENST00000340635.6	-	15	2589	c.2414G>A	c.(2413-2415)cGt>cAt	p.R805H	PDE4D_ENST00000358923.6_Missense_Mutation_p.R503H|PDE4D_ENST00000360047.5_Missense_Mutation_p.R669H|PDE4D_ENST00000502484.2_Missense_Mutation_p.R744H|PDE4D_ENST00000317118.8_Missense_Mutation_p.R514H|PDE4D_ENST00000507116.1_Missense_Mutation_p.R741H|PDE4D_ENST00000546160.1_Missense_Mutation_p.R744H|PDE4D_ENST00000503258.1_Missense_Mutation_p.R675H|PDE4D_ENST00000405755.2_Missense_Mutation_p.R683H	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	805					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GTCAGGAGAACGATCATCTAT	0.433													29	140					0	0	0	0	T	58270507	C	T	58270507	3	4	285	1	0	0	0	0	1	0	0	0	11713	536	19	1	19	1	PDE4D	5	58270507	Missense_Mutation	SNP	C	TCGA-CV-7180-01A-11D-2012-08	38549038	58270507	122644753	26	50823											
CARTPT	9607	broad.mit.edu	37	chr5	71016344	71016344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtttcagtgtgacgccGgtgagcagtgtgcagtgagg	6	12	17	6	2	1	3	1	3	0	0	1	3	1	3	1	2	2	4	1	2	0	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr5:71016344G>A	ENST00000296777.4	+	3	384	c.253G>A	c.(253-255)Ggt>Agt	p.G85S	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	85					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	GTGTGACGCCGGTGAGCAGTG	0.507													6	8					0	0	0	0	A	71016344	G	A	71016344	3	1	285	1	0	0	0	0	1	0	0	0	2684	1116	39	1	263	1	CARTPT	5	71016344	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08	12745837	71016344	109898916	27	50824											
PCDH12	51294	broad.mit.edu	37	chr5	141334957	141334957	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcagcgtcctgtacagggtCggggtgaggtggaagggggc	6	6	21	8	3	0	1	0	1	0	0	2	2	1	2	1	7	2	2	1	7	2	1			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr5:141334957C>T	ENST00000231484.3	-	1	3670	c.2460G>A	c.(2458-2460)ccG>ccA	p.P820P		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	820					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACAGGGTCGGGGTGAGGT	0.612													12	34					0	0	0	0	T	141334957	C	T	141334957	2	4	285	1	0	0	0	0	0	0	0	1	11581	871	31	1		1	PCDH12	5	141334957	Silent	SNP	C	TCGA-CV-7180-01A-11D-2012-08	70318613	141334957	39580303	28	50825											
PRICKLE4	29964	broad.mit.edu	37	chr6	41753268	41753268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcccgcgctgcccggCttgtgaccaggtacagcctg	4	7	14	16	4	0	1	0	1	0	0	0	1	0	1	4	2	4	4	4	2	1	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr6:41753268C>T	ENST00000359201.5	+	5	1161	c.572C>T	c.(571-573)gCt>gTt	p.A191V	PRICKLE4_ENST00000394260.1_Missense_Mutation_p.A151V|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.A151V|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.A191V|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.A191V			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	151	LIM zinc-binding 2.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGCTGCCCGGCTTGTGACCAG	0.602													4	28					0	0	0	0	T	41753268	C	T	41753268	3	4	285	1	0	0	0	0	1	0	0	0	12569	797	28	4	586	4	PRICKLE4	6	41753268	Missense_Mutation	SNP	C	TCGA-CV-7180-01A-11D-2012-08		41753268	129361799	29	50826											
TIAM2	26230	broad.mit.edu	37	chr6	155450592	155450592	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccttacgcatcgagactcGgtggccccacatgcaaggtc	9	7	11	14	3	0	1	0	0	0	1	3	2	0	1	3	3	3	2	3	3	2	1			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr6:155450592G>A	ENST00000367174.2	+	0	443				TIAM2_ENST00000461783.3_Missense_Mutation_p.G79S|TIAM2_ENST00000456144.1_Missense_Mutation_p.G79S|TIAM2_ENST00000529824.2_Missense_Mutation_p.G79S|TIAM2_ENST00000318981.5_Missense_Mutation_p.G79S|TIAM2_ENST00000360366.4_Missense_Mutation_p.G79S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ATCGAGACTCGGTGGCCCCAC	0.562													8	33					0	0	0	0	A	155450592	G	A	155450592	1	1	285	1	0	0	0	0	0	0	0	0	15985	1116	39	1		1	TIAM2	6	155450592	Translation_Start_Site	SNP	G	TCGA-CV-7180-01A-11D-2012-08	113697324	155450592	15664475	30	50827											
NOD1	10392	broad.mit.edu	37	chr7	30485828	30485828	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccttcacttgttattttGttttttcccagtctgcagag	5	19	6	11	0	2	1	1	0	1	1	4	1	4	1	3	0	1	3	3	0	1	8			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr7:30485828G>A	ENST00000222823.4	-	9	2907	c.2382C>T	c.(2380-2382)aaC>aaT	p.N794N		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	794					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TTGTTATTTTGTTTTTTCCCA	0.522													13	147					0	0	0	0	A	30485828	G	A	30485828	2	1	285	1	0	0	0	0	0	0	0	1	10586	1368	48	4		4	NOD1	7	30485828	Silent	SNP	G	TCGA-CV-7180-01A-11D-2012-08		30485828	128652835	31	50828											
CCDC132	55610	broad.mit.edu	37	chr7	92987685	92987685	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgcctgggatcccatatCaataagaaagcaagacaaaa	17	8	8	8	0	1	2	1	0	0	2	2	3	2	3	2	1	2	2	2	1	7	3			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr7:92987685C>T	ENST00000544910.1	+	29	2962	c.2742C>T	c.(2740-2742)atC>atT	p.I914I	CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000305866.5_Silent_p.I944I|CCDC132_ENST00000535481.1_Silent_p.I664I	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	944										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GATCCCATATCAATAAGAAAG	0.383													7	53					0	0	0	0	T	92987685	C	T	92987685	2	4	285	1	0	0	0	0	0	0	0	1	2792	816	29	2		2	CCDC132	7	92987685	Silent	SNP	C	TCGA-CV-7180-01A-11D-2012-08	62501857	92987685	66150978	32	50829											
CNTNAP2	26047	broad.mit.edu	37	chr7	146829390	146829390	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggtgcctgtctttttcaaCgctacaagttacctggaggt	8	13	10	10	2	2	0	1	0	1	0	2	1	2	1	2	3	4	2	2	3	4	4	rs78543192	byFrequency	TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr7:146829390C>T	ENST00000361727.3	+	8	1653	c.1137C>T	c.(1135-1137)aaC>aaT	p.N379N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	379					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCTTTTTCAACGCTACAAGTT	0.458										HNSCC(39;0.1)			12	89					0	0	0	0	T	146829390	C	T	146829390	2	4	285	1	0	0	0	0	0	0	0	1	3677	535	19	1		1	CNTNAP2	7	146829390	Silent	SNP	C	TCGA-CV-7180-01A-11D-2012-08	53841705	146829390	12309273	33	50830											
CSMD1	64478	broad.mit.edu	37	chr8	2796121	2796121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggctataccactgtacAgactgtgttcagagttgtgt	9	13	12	7	0	1	3	1	1	0	2	1	3	1	3	1	1	2	4	1	1	3	5			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr8:2796121A>G	ENST00000520002.1	-	71	11239	c.10684T>C	c.(10684-10686)Tgt>Cgt	p.C3562R	CSMD1_ENST00000400186.3_Missense_Mutation_p.C3385R|CSMD1_ENST00000602723.1_Missense_Mutation_p.C3385R|CSMD1_ENST00000602557.1_Missense_Mutation_p.C3562R|CSMD1_ENST00000542608.1_Missense_Mutation_p.C3384R|CSMD1_ENST00000537824.1_Missense_Mutation_p.C3561R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3562						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCACTGTACAGACTGTGTTC	0.468													5	19					0	0	0	0	G	2796121	A	G	2796121	3	3	285	1	0	0	0	0	1	0	0	0	3976	188	7	5	17	5	CSMD1	8	2796121	Missense_Mutation	SNP	A	TCGA-CV-7180-01A-11D-2012-08		2796121	143567901	34	50831											
SGK223	157285	broad.mit.edu	37	chr8	8185602	8185602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagccgcctctgttgcccGccagccctgctgccggaagc	4	6	12	19	4	1	0	0	0	1	0	1	1	1	1	6	1	6	3	6	1	1	1			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr8:8185602G>A	ENST00000520004.1	-	5	2954	c.2690C>T	c.(2689-2691)gCg>gTg	p.A897V	SGK223_ENST00000330777.4_Missense_Mutation_p.A897V			Q86YV5	SG223_HUMAN		897							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCTGTTGCCCGCCAGCCCTGC	0.662													31	139					0	0	0	0	A	8185602	G	A	8185602	3	1	285	1	0	0	0	0	1	0	0	0	14297	1087	38	1	1526	1	SGK223	8	8185602	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08	5389481	8185602	138178420	35	50832											
FAM150A	389658	broad.mit.edu	37	chr8	53452412	53452412	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcgttgagcactcccTggtattgtaatagagtcggt	8	12	13	8	2	0	2	0	1	0	1	2	2	1	2	1	3	2	5	1	3	3	5			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr8:53452412T>C	ENST00000358543.4	-	3	554	c.304A>G	c.(304-306)Agg>Ggg	p.R102G	FAM150A_ENST00000523939.1_Missense_Mutation_p.R102G	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	102						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				GAGCACTCCCTGGTATTGTAA	0.373													3	51					0	0	0	0	C	53452412	T	C	53452412	3	2	285	1	0	0	0	0	1	0	0	0	5497	1579	55	5	93	5	FAM150A	8	53452412	Missense_Mutation	SNP	T	TCGA-CV-7180-01A-11D-2012-08	45266810	53452412	92911610	36	50833											
PLEC	5339	broad.mit.edu	37	chr8	144997709	144997709	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgcagccgcctgtgcctGagcccgggcctgtgcctgct	2	9	13	17	2	1	1	0	1	1	0	1	1	1	1	6	1	6	2	6	1	0	0			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr8:144997709G>C	ENST00000322810.4	-	31	6968	c.6799C>G	c.(6799-6801)Cag>Gag	p.Q2267E	PLEC_ENST00000357649.2_Missense_Mutation_p.Q2134E|PLEC_ENST00000345136.3_Missense_Mutation_p.Q2130E|PLEC_ENST00000527096.1_Missense_Mutation_p.Q2153E|PLEC_ENST00000436759.2_Missense_Mutation_p.Q2157E|PLEC_ENST00000356346.3_Missense_Mutation_p.Q2116E|PLEC_ENST00000398774.2_Missense_Mutation_p.Q2098E|PLEC_ENST00000354958.2_Missense_Mutation_p.Q2108E|PLEC_ENST00000354589.3_Missense_Mutation_p.Q2130E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2267	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGTGCCTGAGCCCGGGCC	0.746													3	25					0	0	0	0	C	144997709	G	C	144997709	3	2	285	1	0	0	0	0	1	0	0	0	12124	1299	45	2	7263	2	PLEC	8	144997709	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08	91545297	144997709	1366313	37	50834											
CDKN2A	1029	broad.mit.edu	37	chr9	21974684	21974684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctctacccacctggatcGgcctccgaccgtaactattc	8	9	6	18	3	1	0	0	0	1	0	4	2	2	1	6	2	2	1	6	2	3	4			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr9:21974684G>A	ENST00000304494.5	-	1	413	c.143C>T	c.(142-144)cCg>cTg	p.P48L	CDKN2A_ENST00000498124.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	48			P -> L (in CMM2 and a head and neck tumor; somatic mutation).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.P48L(8)|p.P48R(1)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACCTGGATCGGCCTCCGACC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			53	141					0	0	0	0	A	21974684	G	A	21974684	3	1	285	1	0	0	0	0	1	0	0	0	3190	1116	39	1	540	1	CDKN2A	9	21974684	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08		21974684	119238747	38	50835											
LINGO2	158038	broad.mit.edu	37	chr9	27949442	27949442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcttttcacggattttggGttttttgcaggtaaagtaaa	9	18	9	5	1	2	0	1	0	1	0	2	1	2	1	0	3	1	4	0	3	4	10			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr9:27949442G>T	ENST00000379992.2	-	6	1677	c.1228C>A	c.(1228-1230)Ccc>Acc	p.P410T	LINGO2_ENST00000308675.3_Missense_Mutation_p.P410T	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	410	Ig-like C2-type.					integral to membrane		p.P410T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAG	0.488													12	50					3.07112e-06	3.73714e-06	1	0	T	27949442	G	T	27949442	3	4	285	1	0	0	0	0	1	0	0	0	8870	1261	44	4	596	4	LINGO2	9	27949442	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08	5974758	27949442	113263989	39	50836											
PHF2	5253	broad.mit.edu	37	chr9	96418259	96418259	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgtggactgcctggccttCgcgggacatttcctccacag	5	10	11	15	2	0	0	0	0	0	0	3	2	2	2	5	3	1	0	5	3	0	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr9:96418259C>T	ENST00000359246.4	+	8	1363	c.996C>T	c.(994-996)ttC>ttT	p.F332F	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	332	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCCTGGCCTTCGCGGGACATT	0.637													3	16					0	0	0	0	T	96418259	C	T	96418259	2	4	285	1	0	0	0	0	0	0	0	1	11902	883	31	1		1	PHF2	9	96418259	Silent	SNP	C	TCGA-CV-7180-01A-11D-2012-08	68468817	96418259	44795172	40	50837											
SLC44A1	23446	broad.mit.edu	37	chr9	108097866	108097866	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtattctttttggatccaTgcaacctggacttgataaac	11	15	7	8	0	1	1	0	1	1	0	2	3	2	3	2	2	3	2	2	2	4	6			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr9:108097866T>C	ENST00000374720.3	+	4	539	c.292T>C	c.(292-294)Tgc>Cgc	p.C98R	SLC44A1_ENST00000374723.1_Missense_Mutation_p.C98R|SLC44A1_ENST00000607692.1_3'UTR|SLC44A1_ENST00000374724.1_Missense_Mutation_p.C98R	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	98						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTTGGATCCATGCAACCTGGA	0.403													9	81					0	0	0	0	C	108097866	T	C	108097866	3	2	285	1	0	0	0	0	1	0	0	0	14723	1464	51	5	306	5	SLC44A1	9	108097866	Missense_Mutation	SNP	T	TCGA-CV-7180-01A-11D-2012-08	11679607	108097866	33115565	41	50838											
ZNF22	7570	broad.mit.edu	37	chr10	45498926	45498926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagaagtggggcatgactaTtcgatttgactcaagcttca	11	11	11	8	1	2	3	2	2	0	1	3	4	2	3	0	2	1	3	0	2	3	4			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr10:45498926T>C	ENST00000298299.3	+	2	703	c.110T>C	c.(109-111)aTt>aCt	p.I37T	CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	37					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				GGCATGACTATTCGATTTGAC	0.463													14	52					0	0	0	0	C	45498926	T	C	45498926	3	2	285	1	0	0	0	0	1	0	0	0	17869	1493	52	5	112	5	ZNF22	10	45498926	Missense_Mutation	SNP	T	TCGA-CV-7180-01A-11D-2012-08		45498926	90035821	42	50839											
DYDC2	84332	broad.mit.edu	37	chr10	82126492	82126492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaagaccatattcatgcagGaggacacaaacccccttgag	15	6	9	11	0	1	3	1	1	0	2	1	5	1	5	3	2	2	1	3	2	3	3			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr10:82126492G>A	ENST00000372199.1	+	6	917	c.319G>A	c.(319-321)Gag>Aag	p.E107K	DYDC2_ENST00000444807.2_Missense_Mutation_p.E107K|DYDC2_ENST00000372198.1_Missense_Mutation_p.E121K|DYDC2_ENST00000372197.1_Missense_Mutation_p.E107K|DYDC2_ENST00000256039.2_Missense_Mutation_p.E107K			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	107							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			ATTCATGCAGGAGGACACAAA	0.438													33	115					0	0	0	0	A	82126492	G	A	82126492	3	1	285	1	0	0	0	0	1	0	0	0	4875	1175	41	2	329	2	DYDC2	10	82126492	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08	36627566	82126492	53408255	43	50840											
HELLS	3070	broad.mit.edu	37	chr10	96350210	96350210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctactggtcgaccaaaacGacgaactagaaaatcaataa	18	7	6	10	3	1	1	1	0	0	1	3	4	2	1	2	1	3	0	2	1	9	3			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr10:96350210G>T	ENST00000348459.5	+	14	1634	c.1529G>T	c.(1528-1530)cGa>cTa	p.R510L	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.R412L|HELLS_ENST00000371332.4_Missense_Mutation_p.R556L|RP11-119K6.6_ENST00000432120.1_RNA	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	510					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CGACCAAAACGACGAACTAGA	0.343													12	46					2.27111e-07	2.79734e-07	1	0	T	96350210	G	T	96350210	3	4	285	1	0	0	0	0	1	0	0	0	7096	1058	37	3	1583	3	HELLS	10	96350210	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08	14223718	96350210	39184537	44	50841											
PTPRE	5791	broad.mit.edu	37	chr10	129839235	129839235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaccactgccgacagcaaCgagacaaccacgacctcagg	14	2	10	15	3	1	2	1	0	0	2	1	6	1	2	4	1	4	1	4	1	2	0	rs144835853		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr10:129839235C>T	ENST00000254667.3	+	3	369	c.90C>T	c.(88-90)aaC>aaT	p.N30N	PTPRE_ENST00000430713.2_Silent_p.N30N|PTPRE_ENST00000471218.1_Silent_p.N30N|PTPRE_ENST00000419012.2_Silent_p.N30N	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	30					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CCGACAGCAACGAGACAACCA	0.607													4	23					0	0	0	0	T	129839235	C	T	129839235	2	4	285	1	0	0	0	0	0	0	0	1	12882	535	19	1		1	PTPRE	10	129839235	Silent	SNP	C	TCGA-CV-7180-01A-11D-2012-08	33489025	129839235	5695512	45	50842											
LGR4	55366	broad.mit.edu	37	chr11	27395209	27395209	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggaaaggaagttaattcaTtgaaacttacatctctaaaa	18	12	6	5	0	2	1	1	1	1	0	3	3	2	3	0	2	2	1	0	2	8	6			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr11:27395209T>A	ENST00000379214.4	-	15	1711	c.1268A>T	c.(1267-1269)aAt>aTt	p.N423I	LGR4_ENST00000389858.4_Missense_Mutation_p.N399I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	423						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AGTTAATTCATTGAAACTTAC	0.333													18	25					0	0	0	0	A	27395209	T	A	27395209	3	1	285	1	0	0	0	0	1	0	0	0	8810	1493	52	5	1603	5	LGR4	11	27395209	Missense_Mutation	SNP	T	TCGA-CV-7180-01A-11D-2012-08		27395209	107611307	46	50843											
OR4D10	390197	broad.mit.edu	37	chr11	59245249	59245249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggatgtattttctctttCggtgatggcattggatcgat	6	17	13	5	2	1	1	0	1	1	0	4	4	1	3	0	5	0	2	0	5	1	5			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr11:59245249C>T	ENST00000530162.1	+	1	404	c.347C>T	c.(346-348)tCg>tTg	p.S116L		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S114L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTTCTCTTTCGGTGATGGCA	0.478													25	68					0	0	0	0	T	59245249	C	T	59245249	3	4	285	1	0	0	0	0	1	0	0	0	11125	893	31	1	349	1	OR4D10	11	59245249	Missense_Mutation	SNP	C	TCGA-CV-7180-01A-11D-2012-08	31850040	59245249	75761267	47	50844											
FAM118B	79607	broad.mit.edu	37	chr11	126126642	126126642	+	Frame_Shift_Del	DEL	A	A	-																															tcaaaaagcttcgagaaaacAtgctggacaaggggattaaa																										TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr11:126126642delA	ENST00000533050.1	+	7	1370	c.877delA	c.(877-879)tgfs	p.M293fs	FAM118B_ENST00000360194.4_Frame_Shift_Del_p.M293fs	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	293										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TCGAGAAAACATGCTGGACAA	0.453													32	140	---	---	---	---					-	126126642	A	-	126126642	7	5	285	1	0	1	0	1	0	0	0	0	5453	217	8	0	895	0	FAM118B	11	126126642	Frame_Shift_Del	DEL	A	TCGA-CV-7180-01A-11D-2012-08	66881393	126126642	8879874	48	50845											
ADAMTS8	11095	broad.mit.edu	37	chr11	130275560	130275560	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctgcactctacagttcGcctctgccagccggccccgc	4	8	9	20	3	2	0	0	0	2	0	4	0	3	0	6	1	4	2	6	1	1	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr11:130275560G>A	ENST00000257359.6	-	9	3269	c.2563C>T	c.(2563-2565)Cga>Tga	p.R855*		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	855	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCTACAGTTCGCCTCTGCCAG	0.652													5	86					0	0	0	0	A	130275560	G	A	130275560	4	1	285	1	0	0	0	0	0	1	0	0	272	1095	38	1	110	1	ADAMTS8	11	130275560	Nonsense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08	4148918	130275560	4730956	49	50846											
SRGAP1	57522	broad.mit.edu	37	chr12	64456755	64456755	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctaagaacatatctgtctgCggagtacaaccttgaaacct	13	10	7	11	1	2	2	0	1	2	1	2	3	2	3	3	1	5	1	3	1	6	4			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr12:64456755C>G	ENST00000355086.3	+	7	1384	c.860C>G	c.(859-861)gCg>gGg	p.A287G	SRGAP1_ENST00000543397.1_Missense_Mutation_p.A247G|SRGAP1_ENST00000357825.3_Missense_Mutation_p.A287G|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	287					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TATCTGTCTGCGGAGTACAAC	0.413													7	30					0	0	0	0	G	64456755	C	G	64456755	3	3	285	1	0	0	0	0	1	0	0	0	15235	768	27	3	886	3	SRGAP1	12	64456755	Missense_Mutation	SNP	C	TCGA-CV-7180-01A-11D-2012-08		64456755	69395140	50	50847											
ACACB	32	broad.mit.edu	37	chr12	109696115	109696115	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgattgctgtggagacacgGactgtggaggtggcagtccc	7	9	17	8	1	0	2	0	1	0	1	1	5	1	4	1	5	1	2	1	5	0	1			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr12:109696115G>T	ENST00000338432.7	+	46	6425	c.6306G>T	c.(6304-6306)cgG>cgT	p.R2102R	ACACB_ENST00000377854.5_Silent_p.R2032R|ACACB_ENST00000543201.1_Silent_p.R768R|ACACB_ENST00000377848.3_Silent_p.R2102R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2102	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGGAGACACGGACTGTGGAGG	0.632													9	32					2.17888e-05	2.61984e-05	1	0	T	109696115	G	T	109696115	2	4	285	1	0	0	0	0	0	0	0	1	107	1161	41	2		2	ACACB	12	109696115	Silent	SNP	G	TCGA-CV-7180-01A-11D-2012-08	45239360	109696115	24155780	51	50848											
MED13L	23389	broad.mit.edu	37	chr12	116408480	116408480	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgttgggaacaccaagaTgtgtgtacaagaagcatctt	13	11	11	6	0	1	3	0	1	1	2	1	4	1	4	1	1	3	3	1	1	5	3			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr12:116408480T>C	ENST00000281928.3	-	27	6192	c.5986A>G	c.(5986-5988)Atc>Gtc	p.I1996V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1996					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AACACCAAGATGTGTGTACAA	0.478													11	47					0	0	0	0	C	116408480	T	C	116408480	3	2	285	1	0	0	0	0	1	0	0	0	9500	1464	51	5	666	5	MED13L	12	116408480	Missense_Mutation	SNP	T	TCGA-CV-7180-01A-11D-2012-08	6712365	116408480	17443415	52	50849											
SPATA13	221178	broad.mit.edu	37	chr13	24876816	24876816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcactatgcccacaagcGtcccccagcagcaggtcttt	10	8	7	16	1	2	0	1	0	1	0	3	0	3	0	3	1	4	2	3	1	2	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr13:24876816G>A	ENST00000424834.2	+	15	4212	c.3739G>A	c.(3739-3741)Gtc>Atc	p.V1247I	SPATA13_ENST00000382108.3_Missense_Mutation_p.V1247I|SPATA13_ENST00000399949.2_Missense_Mutation_p.V544I|SPATA13_ENST00000382095.4_Missense_Mutation_p.V622I|SPATA13_ENST00000343003.6_Missense_Mutation_p.V566I|SPATA13_ENST00000409126.1_Missense_Mutation_p.V482I			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	622					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCCCACAAGCGTCCCCCAGCA	0.622													29	102					0	0	0	0	A	24876816	G	A	24876816	3	1	285	1	0	0	0	0	1	0	0	0	15090	1145	40	1	3785	1	SPATA13	13	24876816	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08		24876816	90293062	53	50850											
DOCK9	23348	broad.mit.edu	37	chr13	99449739	99449739	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catatgctagtgggccagcaTtgacctagacaaagagcaaa	15	7	10	9	0	0	3	0	1	0	2	0	3	0	3	2	1	3	3	2	1	5	4			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr13:99449739T>C	ENST00000376460.1	-	54	6043	c.5963A>G	c.(5962-5964)aAt>aGt	p.N1988S	DOCK9_ENST00000339416.2_Missense_Mutation_p.N1975S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1989	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGGCCAGCATTGACCTAGAC	0.428													4	18					0	0	0	0	C	99449739	T	C	99449739	3	2	285	1	0	0	0	0	1	0	0	0	4730	1493	52	5	259	5	DOCK9	13	99449739	Missense_Mutation	SNP	T	TCGA-CV-7180-01A-11D-2012-08	74572923	99449739	15720139	54	50851											
MYH7	4625	broad.mit.edu	37	chr14	23887505	23887505	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctccgagttggccttggaAaggacgcgctgcagctcggc	7	7	14	13	4	0	0	0	0	0	0	2	3	1	2	3	4	2	4	3	4	1	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr14:23887505A>C	ENST00000355349.3	-	30	4245	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1361					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1361L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTTGGAAAGGACGCGCT	0.652													3	79					0	0	0	0	C	23887505	A	C	23887505	2	2	285	1	0	0	0	0	0	0	0	1	10109	1	1	5		5	MYH7	14	23887505	Silent	SNP	A	TCGA-CV-7180-01A-11D-2012-08		23887505	83462035	55	50852											
MNAT1	4331	broad.mit.edu	37	chr14	61201602	61201602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggacgatcagggttgccctCggtgtaagaccaccaaatat	11	9	11	10	2	1	1	1	0	0	1	2	3	1	2	3	3	1	2	3	3	3	3			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr14:61201602C>T	ENST00000261245.4	+	1	123	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	MNAT1_ENST00000539616.2_Missense_Mutation_p.R8W|MNAT1_ENST00000555545.1_3'UTR	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	8					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GGGTTGCCCTCGGTGTAAGAC	0.592								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					6	65					0	0	0	0	T	61201602	C	T	61201602	3	4	285	1	0	0	0	0	1	0	0	0	9744	875	31	1	24	1	MNAT1	14	61201602	Missense_Mutation	SNP	C	TCGA-CV-7180-01A-11D-2012-08	37314097	61201602	46147938	56	50853											
LCMT2	9836	broad.mit.edu	37	chr15	43622318	43622318	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcgtctctccaatcctttCtgctttgcgccgcgccacgt	3	13	9	16	5	2	0	0	0	2	0	5	0	4	0	4	1	2	1	4	1	1	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr15:43622318C>G	ENST00000305641.5	-	1	485	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q	LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	124					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CCAATCCTTTCTGCTTTGCGC	0.627													3	99					0	0	0	0	G	43622318	C	G	43622318	3	3	285	1	0	0	0	0	1	0	0	0	8732	922	32	2	1694	2	LCMT2	15	43622318	Missense_Mutation	SNP	C	TCGA-CV-7180-01A-11D-2012-08		43622318	58909074	57	50854											
MTHFS	10588	broad.mit.edu	37	chr15	80181637	80181637	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttctgtctcaatttcatcTtgcatgctcagaaagatgga	10	15	7	9	0	6	2	3	0	4	2	7	3	6	3	0	1	2	2	0	1	2	3	rs142942013		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr15:80181637T>C	ENST00000258874.3	-	2	237	c.177A>G	c.(175-177)caA>caG	p.Q59Q	ST20-MTHFS_ENST00000479961.1_Silent_p.Q35Q|ST20-MTHFS_ENST00000494999.1_5'UTR|MTHFS_ENST00000559722.1_5'UTR	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	59					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		CAATTTCATCTTGCATGCTCA	0.398													12	61					0	0	0	0	C	80181637	T	C	80181637	2	2	285	1	0	0	0	0	0	0	0	1	10002	1606	56	5		5	MTHFS	15	80181637	Silent	SNP	T	TCGA-CV-7180-01A-11D-2012-08	36559319	80181637	22349755	58	50855											
PTX4	390667	broad.mit.edu	37	chr16	1537325	1537325	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtacttactctctcctGgcacctggggggaccatgcc	5	11	12	13	0	1	0	0	0	1	0	3	1	2	1	4	5	3	2	4	5	2	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr16:1537325G>C	ENST00000447419.2	-	2	813	c.788C>G	c.(787-789)cCa>cGa	p.P263R	PTX4_ENST00000293922.1_Missense_Mutation_p.P258R|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	263						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						ACTCTCTCCTGGCACCTGGGG	0.632													9	45					0	0	0	0	C	1537325	G	C	1537325	3	2	285	1	0	0	0	0	1	0	0	0	12905	1348	47	4	655	4	PTX4	16	1537325	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08		1537325	88817428	59	50856											
AARS	16	broad.mit.edu	37	chr16	70295032	70295032	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacataccctcctcggaccTgagcattcttcactgtaaac	10	10	6	15	1	2	1	1	1	1	0	4	2	3	2	3	1	3	3	3	1	3	4			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr16:70295032T>C	ENST00000261772.8	-	13	1843	c.1700A>G	c.(1699-1701)cAg>cGg	p.Q567R	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	567					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TCCTCGGACCTGAGCATTCTT	0.398													3	70					0	0	0	0	C	70295032	T	C	70295032	3	2	285	1	0	0	0	0	1	0	0	0	19	1580	55	5	1242	5	AARS	16	70295032	Missense_Mutation	SNP	T	TCGA-CV-7180-01A-11D-2012-08	68757707	70295032	20059721	60	50857											
ADAMTS18	170692	broad.mit.edu	37	chr16	77325275	77325275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatttggtttcttaatattaCggcatcttcgctctgggaaa	9	16	9	7	2	3	0	0	0	3	0	4	2	3	1	0	3	1	3	0	3	4	6	rs150975249	byFrequency	TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr16:77325275C>T	ENST00000282849.5	-	21	3708	c.3290G>A	c.(3289-3291)cGt>cAt	p.R1097H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1097	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTAATATTACGGCATCTTCG	0.502													23	234					0	0	0	0	T	77325275	C	T	77325275	3	4	285	1	0	0	0	0	1	0	0	0	263	536	19	1	387	1	ADAMTS18	16	77325275	Missense_Mutation	SNP	C	TCGA-CV-7180-01A-11D-2012-08	7030243	77325275	13029478	61	50858											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	33					0	0	0	0	A	7577539	G	A	7577539	3	1	285	1	0	0	0	0	1	0	0	0	16476	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08		7577539	73617671	62	50859											
TMEM104	54868	broad.mit.edu	37	chr17	72791738	72791738	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actgaccggtgctgggggccCctgcgccgagtggacgccta	5	6	16	14	4	0	1	0	1	0	0	0	3	0	2	5	4	2	1	5	4	1	1			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr17:72791738C>T	ENST00000335464.5	+	8	765	c.603C>T	c.(601-603)ccC>ccT	p.P201P	TMEM104_ENST00000582773.1_Silent_p.P201P|TMEM104_ENST00000582330.1_Silent_p.P201P|TMEM104_ENST00000417024.2_Silent_p.P214P	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	201						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GCTGGGGGCCCCTGCGCCGAG	0.607													9	30					0	0	0	0	T	72791738	C	T	72791738	2	4	285	1	0	0	0	0	0	0	0	1	16112	610	22	4		4	TMEM104	17	72791738	Silent	SNP	C	TCGA-CV-7180-01A-11D-2012-08	65214199	72791738	8403472	63	50860											
L3MBTL4	91133	broad.mit.edu	37	chr18	6264018	6264018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcccaagaccatgctccCtgtgcagccgctgaagggac	9	6	10	16	1	0	2	0	1	0	1	2	3	2	3	4	1	3	3	4	1	2	0			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr18:6264018C>A	ENST00000400104.3	-	5	347	c.147G>T	c.(145-147)caG>caT	p.Q49H	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q49H|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q49H|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.Q49H			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	49					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ACCATGCTCCCTGTGCAGCCG	0.423													8	81					0.00448238	0.00503023	1	0	A	6264018	C	A	6264018	3	1	285	1	0	0	0	0	1	0	0	0	8647	680	24	4	1788	4	L3MBTL4	18	6264018	Missense_Mutation	SNP	C	TCGA-CV-7180-01A-11D-2012-08		6264018	71813230	64	50861											
ALPK2	115701	broad.mit.edu	37	chr18	56171233	56171233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctggaaggtgcaacatttCtgaccagcttctgattctct	8	14	9	10	0	3	2	0	2	3	0	4	3	3	3	1	2	4	3	1	2	2	3			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr18:56171233C>T	ENST00000361673.3	-	11	6390	c.6177G>A	c.(6175-6177)caG>caA	p.Q2059Q		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2059	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			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						TGCAACATTTCTGACCAGCTT	0.488													8	116					0	0	0	0	T	56171233	C	T	56171233	2	4	285	1	0	0	0	0	0	0	0	1	545	912	32	2		2	ALPK2	18	56171233	Silent	SNP	C	TCGA-CV-7180-01A-11D-2012-08	49907215	56171233	21906015	65	50862											
FZR1	51343	broad.mit.edu	37	chr19	3526259	3526259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttggtgcccgcagacGgcctggcctactctgccctg	3	10	13	15	2	1	1	0	0	1	1	1	1	1	1	4	3	4	2	4	3	1	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr19:3526259G>A	ENST00000441788.2	+	5	498	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	FZR1_ENST00000313639.8_Missense_Mutation_p.G88S|FZR1_ENST00000395095.3_Missense_Mutation_p.G88S	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	88					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGCAGACGGCCTGGCCTA	0.677													6	19					0	0	0	0	A	3526259	G	A	3526259	3	1	285	1	0	0	0	0	1	0	0	0	6186	1116	39	1	276	1	FZR1	19	3526259	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08		3526259	55602724	66	50863											
ZNF780B	163131	broad.mit.edu	37	chr19	40541898	40541898	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgctgaataagatttgAaccacgattaaaggctttcc	13	13	8	7	1	0	4	0	3	0	1	1	5	1	4	2	1	2	2	2	1	5	5			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr19:40541898A>C	ENST00000434248.1	-	5	933	c.868T>G	c.(868-870)Tca>Gca	p.S290A	ZNF780B_ENST00000221355.6_Missense_Mutation_p.S142A	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATAAGATTTGAACCACGATTA	0.368													3	101					0	0	0	0	C	40541898	A	C	40541898	3	2	285	1	0	0	0	0	1	0	0	0	18246	246	9	5	1637	5	ZNF780B	19	40541898	Missense_Mutation	SNP	A	TCGA-CV-7180-01A-11D-2012-08	37015639	40541898	18587085	67	50864											
NCR1	9437	broad.mit.edu	37	chr19	55421380	55421380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttatctccttttccaggcGacattgagaacaccagcctt	9	13	6	13	1	1	1	0	1	1	1	3	3	2	1	4	1	2	0	4	1	2	6			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr19:55421380G>A	ENST00000594765.1	+	5	662	c.637G>A	c.(637-639)Gac>Aac	p.D213N	NCR1_ENST00000357397.5_Missense_Mutation_p.D106N|NCR1_ENST00000598576.1_Missense_Mutation_p.D201N|NCR1_ENST00000350790.5_Missense_Mutation_p.D118N|NCR1_ENST00000338835.5_Missense_Mutation_p.D213N|NCR1_ENST00000291890.4_Missense_Mutation_p.D213N|NCR1_ENST00000447255.1_Missense_Mutation_p.D213N			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	213					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TTTTCCAGGCGACATTGAGAA	0.438													4	144					0	0	0	0	A	55421380	G	A	55421380	3	1	285	1	0	0	0	0	1	0	0	0	10307	1058	37	1	655	1	NCR1	19	55421380	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08	14879482	55421380	3707603	68	50865											
ZNF324	25799	broad.mit.edu	37	chr19	58983227	58983227	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcggcccttccgctgcgtGgactgtggcaaggccttcgc	4	8	15	14	4	0	0	0	0	0	0	2	2	1	1	3	4	2	2	3	4	1	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr19:58983227G>A	ENST00000536459.2	+	4	2077	c.1368G>A	c.(1366-1368)gtG>gtA	p.V456V	ZNF324_ENST00000196482.3_Silent_p.V456V|ZNF324_ENST00000535298.1_Silent_p.V233V			O75467	Z324A_HUMAN	zinc finger protein 324	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCCGCTGCGTGGACTGTGGCA	0.692													21	66					0	0	0	0	A	58983227	G	A	58983227	2	1	285	1	0	0	0	0	0	0	0	1	17939	1335	47	4		4	ZNF324	19	58983227	Silent	SNP	G	TCGA-CV-7180-01A-11D-2012-08	3561847	58983227	145756	69	50866											
MAVS	57506	broad.mit.edu	37	chr20	3845265	3845265	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaagttgccaactagcTcaaagccccctggtgcagtg	9	8	9	15	0	1	0	1	0	0	0	2	0	2	0	5	1	5	3	5	1	4	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr20:3845265T>C	ENST00000428216.2	+	6	1116	c.988T>C	c.(988-990)Tca>Cca	p.S330P	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.S189P	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	330					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCCAACTAGCTCAAAGCCCCC	0.552													4	113					0	0	0	0	C	3845265	T	C	3845265	3	2	285	1	0	0	0	0	1	0	0	0	9407	1551	54	5	1006	5	MAVS	20	3845265	Missense_Mutation	SNP	T	TCGA-CV-7180-01A-11D-2012-08		3845265	59180255	70	50867											
BMP2	650	broad.mit.edu	37	chr20	6758934	6758934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgagtgggaaaacaacccGgagattcttctttaatttaa	15	11	8	7	2	2	1	0	0	2	1	2	4	2	2	1	2	3	0	1	2	6	6			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr20:6758934G>T	ENST00000378827.4	+	3	1608	c.389G>T	c.(388-390)cGg>cTg	p.R130L		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	130					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	AAAACAACCCGGAGATTCTTC	0.393													5	41					1.024e-07	1.27684e-07	1	0	T	6758934	G	T	6758934	3	4	285	1	0	0	0	0	1	0	0	0	1464	1116	39	3	395	3	BMP2	20	6758934	Missense_Mutation	SNP	G	TCGA-CV-7180-01A-11D-2012-08	2913669	6758934	56266586	71	50868											
ADRBK2	157	broad.mit.edu	37	chr22	26114347	26114347	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggagagggagagtcccGggtaagtctaaggcagcctc	11	5	17	8	1	1	3	0	0	1	3	3	6	2	3	2	4	1	2	2	4	2	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr22:26114347G>A	ENST00000324198.5	+	19	1982	c.1791_splice	c.e19+1	p.R597_splice		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	597	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GGAGAGTCCCGGGTAAGTCTA	0.453													13	72					0	0	0	0	A	26114347	G	A	26114347	5	1	285	1	0	0	0	0	0	0	1	0	344	1130	39	1	1864	1	ADRBK2	22	26114347	Splice_Site	SNP	G	TCGA-CV-7180-01A-11D-2012-08		26114347	25190219	72	50869											
CSF2RA	1438	broad.mit.edu	37	chrX	1428416	1428416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggacatctccgcctccgcGacacgggggaactgttttct	7	10	11	13	4	2	0	0	0	2	0	4	3	3	2	3	3	1	1	3	3	1	2			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chrX:1428416G>A	ENST00000355432.3	+	11	1217	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000417535.2_3'UTR	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	0						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCGCCTCCGCGACACGGGGGA	0.493													10	127					0	0	0	0	A	1428416	G	A	1428416	2	1	285	1	0	0	0	0	0	0	0	1	3966	1045	37	1		1	CSF2RA	23	1428416	Silent	SNP	G	TCGA-CV-7180-01A-11D-2012-08		1428416	153842144	73	50870											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913257	77913257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgtggaaactctgaagCtgctgatgtctccacaacta	10	10	10	11	0	2	2	0	2	2	0	3	3	2	3	2	2	4	2	2	2	4	1			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chrX:77913257C>A	ENST00000321110.1	-	2	956	c.661G>T	c.(661-663)Gct>Tct	p.A221S		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	221							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AACTCTGAAGCTGCTGATGTC	0.517													5	26					0.000602214	0.000691178	1	0	A	77913257	C	A	77913257	3	1	285	1	0	0	0	0	1	0	0	0	17686	797	28	4	770	4	ZCCHC5	23	77913257	Missense_Mutation	SNP	C	TCGA-CV-7180-01A-11D-2012-08	76484841	77913257	77357303	74	50871											
FMR1NB	158521	broad.mit.edu	37	chrX	147084786	147084786	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaatgctcatggccaaTctctggaagaagattccgca	13	9	10	9	1	2	3	1	1	1	2	4	4	3	4	2	2	1	2	2	2	5	1			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chrX:147084786T>A	ENST00000370467.3	+	2	417	c.343T>A	c.(343-345)Tct>Act	p.S115T		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	115						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCATGGCCAATCTCTGGAAGA	0.363													23	40					0	0	0	0	A	147084786	T	A	147084786	3	1	285	1	0	0	0	0	1	0	0	0	6006	1435	50	5	349	5	FMR1NB	23	147084786	Missense_Mutation	SNP	T	TCGA-CV-7180-01A-11D-2012-08	69171529	147084786	8185774	75	50872											
AJAP1	55966	broad.mit.edu	37	chr1	4829977	4829977	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtcatagctgctctcatCacaactcttgtcttaaaaaa	13	13	5	10	0	5	0	3	0	3	0	6	0	5	0	0	1	3	2	0	1	5	3			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:4829977C>T	ENST00000378191.4	+	3	1275	c.894C>T	c.(892-894)atC>atT	p.I298I	AJAP1_ENST00000378190.3_Silent_p.I298I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	298					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTGCTCTCATCACAACTCTTG	0.537													40	149					0	0	0	0	T	4829977	C	T	4829977	2	4	286	1	0	0	0	0	0	0	0	1	438	816	29	2		2	AJAP1	1	4829977	Silent	SNP	C	TCGA-CV-7183-01A-11D-2012-08		4829977	244420644	1	50873											
EXTL1	2134	broad.mit.edu	37	chr1	26360245	26360245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggatggtgggcttcctgaCgtcgagccatttctgggacg	5	10	16	10	4	1	1	0	1	1	0	3	4	2	3	2	4	1	1	2	4	0	2			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:26360245C>T	ENST00000374280.3	+	9	2444	c.1577C>T	c.(1576-1578)aCg>aTg	p.T526M		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	526					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	p.T526M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCCTGACGTCGAGCCAT	0.582													36	94					0	0	0	0	T	26360245	C	T	26360245	3	4	286	1	0	0	0	0	1	0	0	0	5363	536	19	1	1611	1	EXTL1	1	26360245	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	21530268	26360245	222890376	2	50874											
WDTC1	23038	broad.mit.edu	37	chr1	27614251	27614252	+	Frame_Shift_Ins	INS	-	-	AT																															acctgacagtaaaggagaccINSatccacatgtttggagacca																										TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:27614251_27614252insAT	ENST00000319394.3	+	6	913_914	c.378_379insAT	c.(376-381)actccafs	p.P127fs	WDTC1_ENST00000361771.3_Frame_Shift_Ins_p.P127fs	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	127							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TAAAGGAGACCATCCACATGTT	0.564													11	21	---	---	---	---					AT	27614252	-	AT	27614251	7	5	286	1	0	1	1	0	0	0	0	0	17438	581	21	0	396	0	WDTC1	1	27614251	Frame_Shift_Ins	INS	-	TCGA-CV-7183-01A-11D-2012-08	1254006	27614251	221636370	3	50875											
MACF1	23499	broad.mit.edu	37	chr1	39908232	39908232	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgaagttgagctcgcaaAgcaccatgtaagtattttca	13	12	8	8	1	1	2	1	2	0	0	2	2	1	2	1	0	2	6	1	0	4	6			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:39908232A>T	ENST00000564288.1	+	77	19874	c.19097A>T	c.(19096-19098)aAg>aTg	p.K6366M	MACF1_ENST00000289893.4_Missense_Mutation_p.K4809M|MACF1_ENST00000317713.7_Missense_Mutation_p.K4307M|MACF1_ENST00000545844.1_Missense_Mutation_p.K4307M|MACF1_ENST00000361689.2_Missense_Mutation_p.K4307M|MACF1_ENST00000539005.1_Missense_Mutation_p.K4177M|MACF1_ENST00000372915.3_Missense_Mutation_p.K6265M|MACF1_ENST00000567887.1_Missense_Mutation_p.K6403M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6374					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGCTCGCAAAGCACCATGTA	0.403													24	39					0	0	0	0	T	39908232	A	T	39908232	3	4	286	1	0	0	0	0	1	0	0	0	9209	72	3	5	19361	5	MACF1	1	39908232	Missense_Mutation	SNP	A	TCGA-CV-7183-01A-11D-2012-08	12293981	39908232	209342389	4	50876											
CRNN	49860	broad.mit.edu	37	chr1	152383314	152383314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttgaaacaggcctgggCaactttaaacactaagacca	14	9	8	10	0	1	2	0	1	1	1	1	2	1	2	2	2	3	1	2	2	5	4			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:152383314C>A	ENST00000271835.3	-	3	306	c.244G>T	c.(244-246)Gcc>Tcc	p.A82S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	82	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGCCTGGGCAACTTTAAAC	0.567													22	128					0.000175454	0.000202608	1	0	A	152383314	C	A	152383314	3	1	286	1	0	0	0	0	1	0	0	0	3922	710	25	4	1247	4	CRNN	1	152383314	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	112475082	152383314	96867307	5	50877											
CD48	962	broad.mit.edu	37	chr1	160650998	160650998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggatccttcttacccagggTacagggtggactgaggcaga	9	8	15	9	0	1	2	0	1	1	1	2	4	2	4	2	5	2	2	2	5	2	3			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:160650998T>C	ENST00000368046.3	-	3	733	c.646A>G	c.(646-648)Acc>Gcc	p.T216A	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	216					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTACCCAGGGTACAGGGTGGA	0.522													13	51					0	0	0	0	C	160650998	T	C	160650998	3	2	286	1	0	0	0	0	1	0	0	0	3049	1638	57	5	93	5	CD48	1	160650998	Missense_Mutation	SNP	T	TCGA-CV-7183-01A-11D-2012-08	8267684	160650998	88599623	6	50878											
PAPPA2	60676	broad.mit.edu	37	chr1	176738863	176738863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaacttctcctgctcagagGgaaccaaatttctgaaacgc	13	9	7	12	1	3	2	1	1	2	1	4	3	3	3	2	1	4	1	2	1	4	2			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:176738863G>A	ENST00000367662.3	+	16	5608	c.4444G>A	c.(4444-4446)Gga>Aga	p.G1482R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1482	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGCTCAGAGGGAACCAAATT	0.522													15	139					0	0	0	0	A	176738863	G	A	176738863	3	1	286	1	0	0	0	0	1	0	0	0	11504	1233	43	4	4555	4	PAPPA2	1	176738863	Missense_Mutation	SNP	G	TCGA-CV-7183-01A-11D-2012-08	16087865	176738863	72511758	7	50879											
PIGR	5284	broad.mit.edu	37	chr1	207109003	207109003	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgggccttaacccacccCtcgctgtccaccagcagggg	7	7	10	17	1	0	0	0	0	0	0	2	0	1	0	6	3	3	2	6	3	2	2			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:207109003C>T	ENST00000356495.4	-	5	1389	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	402	Ig-like V-type 4.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TAACCCACCCCTCGCTGTCCA	0.627											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	37					0	0	0	0	T	207109003	C	T	207109003	2	4	286	1	0	0	0	0	0	0	0	1	11969	680	24	4		4	PIGR	1	207109003	Silent	SNP	C	TCGA-CV-7183-01A-11D-2012-08	30370140	207109003	42141618	8	50880											
YOD1	55432	broad.mit.edu	37	chr1	207222672	207222672	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcttccccaaaacgaTcaattcttactgtctgtgta	10	14	5	12	1	4	0	1	0	3	0	5	1	5	0	2	0	3	2	2	0	5	4			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:207222672T>C	ENST00000367084.1	-	4	812	c.608A>G	c.(607-609)gAt>gGt	p.D203G	YOD1_ENST00000391927.1_Missense_Mutation_p.D203G|YOD1_ENST00000315927.4_Missense_Mutation_p.D247G	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	247	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CCCAAAACGATCAATTCTTAC	0.403													47	119					0	0	0	0	C	207222672	T	C	207222672	3	2	286	1	0	0	0	0	1	0	0	0	17584	1435	50	5	310	5	YOD1	1	207222672	Missense_Mutation	SNP	T	TCGA-CV-7183-01A-11D-2012-08	113669	207222672	42027949	9	50881											
FMN2	56776	broad.mit.edu	37	chr1	240371360	240371360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgcccccacttcccggagCgggcatacccccacctcccc	5	5	7	24	3	0	0	0	0	0	0	3	1	3	1	9	2	2	1	9	2	1	2			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:240371360C>T	ENST00000319653.9	+	5	3478	c.3248C>T	c.(3247-3249)gCg>gTg	p.A1083V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1083	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTTCCCGGAGCGGGCATACCC	0.731													6	25					0	0	0	0	T	240371360	C	T	240371360	3	4	286	1	0	0	0	0	1	0	0	0	5995	768	27	1	3266	1	FMN2	1	240371360	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	33148688	240371360	8879261	10	50882											
FH	2271	broad.mit.edu	37	chr1	241680611	241680611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctatccggaaggaattttgGcttgcctaaagacaagaata	14	11	9	7	1	1	2	0	0	1	2	2	4	2	4	2	3	1	1	2	3	8	6			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:241680611G>C	ENST00000366560.3	-	2	176	c.138C>G	c.(136-138)agC>agG	p.S46R	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	46					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AGGAATTTTGGCTTGCCTAAA	0.378			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer				11	36					0	0	0	0	C	241680611	G	C	241680611	3	2	286	1	0	0	0	0	1	0	0	0	5920	1194	42	4	1430	4	FH	1	241680611	Missense_Mutation	SNP	G	TCGA-CV-7183-01A-11D-2012-08	1309251	241680611	7570010	11	50883											
OR2T34	127068	broad.mit.edu	37	chr1	248737781	248737781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acggggaaatggtatcatctCcagtgacctggcccacaagc	11	7	11	12	1	2	1	1	1	1	0	3	2	2	2	3	4	1	1	3	4	3	1			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:248737781C>T	ENST00000328782.2	-	1	299	c.278G>A	c.(277-279)gGa>gAa	p.G93E		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTATCATCTCCAGTGACCTG	0.562													17	57					0	0	0	0	T	248737781	C	T	248737781	3	4	286	1	0	0	0	0	1	0	0	0	11096	855	30	2	682	2	OR2T34	1	248737781	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	7057170	248737781	512840	12	50884											
NBAS	51594	broad.mit.edu	37	chr2	15468389	15468389	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacccttgtttctctagatcTtcattggctgtagttccgat	6	17	7	11	1	3	1	1	0	2	1	5	2	4	1	2	1	0	4	2	1	2	7			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr2:15468389T>C	ENST00000281513.5	-	37	4420	c.4395A>G	c.(4393-4395)gaA>gaG	p.E1465E	NBAS_ENST00000441750.1_Silent_p.E1345E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1465										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCTCTAGATCTTCATTGGCTG	0.383													3	155					0	0	0	0	C	15468389	T	C	15468389	2	2	286	1	0	0	0	0	0	0	0	1	10256	1606	56	5		5	NBAS	2	15468389	Silent	SNP	T	TCGA-CV-7183-01A-11D-2012-08		15468389	227730984	13	50885											
HECW2	57520	broad.mit.edu	37	chr2	197183966	197183966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctgggccgccttcacCttcctctggggctgggcctg	2	10	14	15	1	3	0	1	0	2	0	4	0	4	0	5	5	0	2	5	5	0	2			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr2:197183966C>T	ENST00000260983.2	-	9	1830	c.1648G>A	c.(1648-1650)Ggt>Agt	p.G550S	HECW2_ENST00000409111.1_Missense_Mutation_p.G194S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	550					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCGCCTTCACCTTCCTCTGGG	0.582													13	41					0	0	0	0	T	197183966	C	T	197183966	3	4	286	1	0	0	0	0	1	0	0	0	7093	681	24	4	3154	4	HECW2	2	197183966	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	181715577	197183966	46015407	14	50886											
KCNE4	23704	broad.mit.edu	37	chr2	223918016	223918016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcggagacgcccctcaaCgagagcagcgaagggtcctc	10	4	12	15	4	1	2	1	0	0	2	4	5	2	2	4	2	3	1	4	2	2	0			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr2:223918016C>T	ENST00000281830.3	+	2	952	c.621C>T	c.(619-621)aaC>aaT	p.N207N	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Silent_p.N156N			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	156						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGCCCCTCAACGAGAGCAGCG	0.627													10	40					0	0	0	0	T	223918016	C	T	223918016	2	4	286	1	0	0	0	0	0	0	0	1	8078	535	19	1		1	KCNE4	2	223918016	Silent	SNP	C	TCGA-CV-7183-01A-11D-2012-08	26734050	223918016	19281357	15	50887											
ZNF860	344787	broad.mit.edu	37	chr3	32032156	32032156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcaacccttgcacgtcatCatagacttcatactggagag	13	9	8	11	1	3	2	3	0	0	2	3	3	3	2	1	1	4	2	1	1	4	4			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr3:32032156C>T	ENST00000360311.4	+	2	2134	c.1585C>T	c.(1585-1587)Cat>Tat	p.H529Y		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TGCACGTCATCATAGACTTCA	0.383													19	41					0	0	0	0	T	32032156	C	T	32032156	3	4	286	1	0	0	0	0	1	0	0	0	18287	826	29	2	1587	2	ZNF860	3	32032156	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08		32032156	165990274	16	50888											
PLXNA1	5361	broad.mit.edu	37	chr3	126733334	126733334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagctgtcccccgagaCgggcccgaggcagggcggca	6	3	15	17	4	1	1	1	0	0	1	2	3	2	1	4	4	1	3	4	4	0	0			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr3:126733334C>T	ENST00000393409.2	+	12	2618	c.2618C>T	c.(2617-2619)aCg>aTg	p.T873M	PLXNA1_ENST00000251772.4_Missense_Mutation_p.T850M	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	873	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCCCCCGAGACGGGCCCGAGG	0.706													9	33					0	0	0	0	T	126733334	C	T	126733334	3	4	286	1	0	0	0	0	1	0	0	0	12191	536	19	1	2664	1	PLXNA1	3	126733334	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	94701178	126733334	71289096	17	50889											
LRRC15	131578	broad.mit.edu	37	chr3	194080356	194080356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggacatggacgcttggaaCagcaacgttgacattgatga	12	8	14	7	2	0	3	0	3	0	0	0	6	0	6	0	4	3	3	0	4	2	3			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr3:194080356C>A	ENST00000347624.3	-	2	1502	c.1417G>T	c.(1417-1419)Gtt>Ttt	p.V473F	LRRC15_ENST00000439944.2_Missense_Mutation_p.V479F|LRRC15_ENST00000428839.1_Missense_Mutation_p.V479F	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	473	LRRCT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ACGCTTGGAACAGCAACGTTG	0.542													6	25					8.12818e-05	9.4992e-05	1	0	A	194080356	C	A	194080356	3	1	286	1	0	0	0	0	1	0	0	0	9034	478	17	4	332	4	LRRC15	3	194080356	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	67347022	194080356	3942074	18	50890											
PDS5A	23244	broad.mit.edu	37	chr4	39978105	39978105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtgatcttgtcggtgatCtcttttacccccggagggta	5	14	13	9	2	2	2	0	2	2	0	4	3	2	3	2	4	1	1	2	4	2	4			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:39978105C>T	ENST00000303538.8	-	2	632	c.93G>A	c.(91-93)gaG>gaA	p.E31E	PDS5A_ENST00000503396.1_Silent_p.E31E	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	31					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TGTCGGTGATCTCTTTTACCC	0.567											OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	107					0	0	0	0	T	39978105	C	T	39978105	2	4	286	1	0	0	0	0	0	0	0	1	11762	912	32	2		2	PDS5A	4	39978105	Silent	SNP	C	TCGA-CV-7183-01A-11D-2012-08		39978105	151176171	19	50891											
HNRNPD	3184	broad.mit.edu	37	chr4	83280734	83280735	+	Frame_Shift_Ins	INS	-	-	C																															acttcaccaaatttggaaaaINSgtagtccttcagatctttct																										TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:83280734_83280735insC	ENST00000313899.7	-	3	625_626	c.348_349insG	c.(346-351)tatttcfs	p.Y116fs	HNRNPD_ENST00000543098.1_Frame_Shift_Ins_p.Y64fs|HNRNPD_ENST00000353341.4_Frame_Shift_Ins_p.Y116fs|HNRNPD_ENST00000352301.4_Frame_Shift_Ins_p.Y97fs|HNRNPD_ENST00000541060.1_Intron	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	116	RRM 1.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						AATTTGGAAAAGTAGTCCTTCA	0.376													31	55	---	---	---	---					C	83280735	-	C	83280734	7	5	286	1	0	1	1	0	0	0	0	0	7314	72	3	0	742	0	HNRNPD	4	83280734	Frame_Shift_Ins	INS	-	TCGA-CV-7183-01A-11D-2012-08	43302629	83280734	107873542	20	50892											
ALPK1	80216	broad.mit.edu	37	chr4	113347690	113347690	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttggcacttcctcagccGgataaaaaggtggtttgtct	9	14	10	8	1	2	0	1	0	1	0	3	1	3	1	2	4	1	2	2	4	4	5			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:113347690G>T	ENST00000458497.1	+	8	969	c.690G>T	c.(688-690)ccG>ccT	p.P230P	ALPK1_ENST00000177648.9_Silent_p.P230P|ALPK1_ENST00000504176.2_Silent_p.P152P	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	230							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTCCTCAGCCGGATAAAAAGG	0.423													19	64					8.10497e-08	1.02102e-07	1	0	T	113347690	G	T	113347690	2	4	286	1	0	0	0	0	0	0	0	1	544	1103	39	3		3	ALPK1	4	113347690	Silent	SNP	G	TCGA-CV-7183-01A-11D-2012-08	30066956	113347690	77806586	21	50893											
FAT4	79633	broad.mit.edu	37	chr4	126373729	126373729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttatgcaagtgtctgccagGatatgcgggtagctggtgtg	7	12	15	7	1	1	0	0	0	1	0	1	1	1	1	1	3	4	3	1	3	4	3			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:126373729G>T	ENST00000394329.3	+	9	11571	c.11558G>T	c.(11557-11559)gGa>gTa	p.G3853V	FAT4_ENST00000335110.5_Missense_Mutation_p.G2151V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3853	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTCTGCCAGGATATGCGGGT	0.463													11	46					7.03913e-09	8.98415e-09	1	0	T	126373729	G	T	126373729	3	4	286	1	0	0	0	0	1	0	0	0	5737	1174	41	2	11592	2	FAT4	4	126373729	Missense_Mutation	SNP	G	TCGA-CV-7183-01A-11D-2012-08	13026039	126373729	64780547	22	50894											
PCDH10	57575	broad.mit.edu	37	chr4	134071537	134071537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaacgagaaaatagaccGcgaacaaatctgcaaacaga	19	4	9	9	4	1	4	0	1	1	3	1	6	1	4	1	0	4	1	1	0	7	1			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:134071537G>A	ENST00000264360.4	+	1	1068	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	81	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAATAGACCGCGAACAAATC	0.567													27	90					0	0	0	0	A	134071537	G	A	134071537	3	1	286	1	0	0	0	0	1	0	0	0	11578	1087	38	1	244	1	PCDH10	4	134071537	Missense_Mutation	SNP	G	TCGA-CV-7183-01A-11D-2012-08	7697808	134071537	57082739	23	50895											
SCOC	60592	broad.mit.edu	37	chr4	141300319	141300319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaggcccaaaagtttgttaCccaagatgatgaatgctgac	14	9	9	9	0	0	4	0	3	0	1	0	4	0	4	2	1	2	3	2	1	6	2			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:141300319C>A	ENST00000394203.3	+	2	293	c.115C>A	c.(115-117)Ccc>Acc	p.P39T	SCOC_ENST00000338517.4_Missense_Mutation_p.P39T|SCOC_ENST00000506322.1_5'UTR|SCOC_ENST00000512749.1_5'UTR|SCOC_ENST00000394205.3_Missense_Mutation_p.P39T|SCOC_ENST00000506597.1_Missense_Mutation_p.P76T|SCOC_ENST00000502535.1_5'UTR|SCOC_ENST00000394201.3_Missense_Mutation_p.P76T	NM_001153585.1	NP_001147057.1	Q9UIL1	SCOC_HUMAN	short coiled-coil protein	76						Golgi apparatus|nucleus	protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					AAGTTTGTTACCCAAGATGAT	0.343													23	113					5.61819e-17	7.56895e-17	1	0	A	141300319	C	A	141300319	3	1	286	1	0	0	0	0	1	0	0	0	14020	507	18	4	306	4	SCOC	4	141300319	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	7228782	141300319	49853957	24	50896											
ZNF827	152485	broad.mit.edu	37	chr4	146770712	146770712	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttccttgtagctttcCgctgcaagtaggtgaatgaa	8	15	11	7	1	0	2	0	2	0	0	2	2	2	2	2	1	2	6	2	1	5	5			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:146770712C>T	ENST00000508784.1	-	6	2210	c.1981_splice	c.e6-1	p.A661_splice	ZNF827_ENST00000379448.4_Splice_Site_p.A661_splice|ZNF827_ENST00000513320.1_Splice_Site_p.A311_splice|ZNF827_ENST00000511534.1_5'UTR			Q17R98	ZN827_HUMAN	zinc finger protein 827	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGTAGCTTTCCGCTGCAAGTA	0.438													21	84					0	0	0	0	T	146770712	C	T	146770712	5	4	286	1	0	0	0	0	0	0	1	0	18273	666	23	1	1282	1	ZNF827	4	146770712	Splice_Site	SNP	C	TCGA-CV-7183-01A-11D-2012-08	5470393	146770712	44383564	25	50897											
FAT1	2195	broad.mit.edu	37	chr4	187629108	187629108	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattagcgatcgctttaatGacaatacccccgagttgggg	10	10	10	11	3	0	1	0	1	0	0	1	3	0	1	3	2	2	2	3	2	4	5			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:187629108G>T	ENST00000441802.2	-	2	2083	c.1874C>A	c.(1873-1875)tCa>tAa	p.S625*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	625	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGCTTTAATGACAATACCCC	0.408										HNSCC(5;0.00058)			18	45					1.00905e-13	1.34079e-13	1	0	T	187629108	G	T	187629108	4	4	286	1	0	0	0	0	0	1	0	0	5734	1294	45	2	11996	2	FAT1	4	187629108	Nonsense_Mutation	SNP	G	TCGA-CV-7183-01A-11D-2012-08	40858396	187629108	3525168	26	50898											
SDHA	6389	broad.mit.edu	37	chr5	225544	225544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtttccagggaggaatcaAtgctgctctggggaacatgg	9	10	15	7	0	2	0	1	0	1	0	3	3	3	3	1	5	3	3	1	5	3	1			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:225544A>G	ENST00000264932.6	+	4	438	c.323A>G	c.(322-324)aAt>aGt	p.N108S	SDHA_ENST00000510361.1_Intron|SDHA_ENST00000504309.1_Missense_Mutation_p.N108S	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	108					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GGAGGAATCAATGCTGCTCTG	0.572									Familial Paragangliomas				4	97					0	0	0	0	G	225544	A	G	225544	3	3	286	1	0	0	0	0	1	0	0	0	14050	101	4	5	337	5	SDHA	5	225544	Missense_Mutation	SNP	A	TCGA-CV-7183-01A-11D-2012-08		225544	180689716	27	50899											
PCDHA13	56136	broad.mit.edu	37	chr5	140263259	140263259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgtgaaggaaaacaatcCgccgggctgccacatcttca	11	8	10	12	3	2	1	1	1	1	0	4	2	3	2	3	2	2	2	3	2	4	2			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:140263259C>T	ENST00000289272.2	+	1	1406	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P469L|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAACAATCCGCCGGGCTGC	0.677													44	121					0	0	0	0	T	140263259	C	T	140263259	3	4	286	1	0	0	0	0	1	0	0	0	11594	652	23	1	1408	1	PCDHA13	5	140263259	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	140037715	140263259	40652001	28	50900											
HAVCR2	84868	broad.mit.edu	37	chr5	156533761	156533761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggtcagggacacatctcCtttgcggaaatccccattta	10	12	8	11	1	2	0	1	0	1	0	4	2	3	2	3	3	1	0	3	3	3	4			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:156533761C>T	ENST00000307851.4	-	2	1001	c.271G>A	c.(271-273)Gga>Aga	p.G91R	HAVCR2_ENST00000522593.1_Missense_Mutation_p.G91R|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'UTR	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	91	Ig-like V-type.					integral to membrane		p.G91R(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACACATCTCCTTTGCGGAAA	0.453													4	133					0	0	0	0	T	156533761	C	T	156533761	3	4	286	1	0	0	0	0	1	0	0	0	7024	690	24	4	658	4	HAVCR2	5	156533761	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	16270502	156533761	24381499	29	50901											
DRD1	1812	broad.mit.edu	37	chr5	174869350	174869350	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttccggttgagaacattcGacaggctttccattacctgt	8	14	8	11	2	0	1	0	1	0	1	3	3	2	1	3	2	2	2	3	2	2	5	rs147169569		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:174869350G>A	ENST00000393752.2	-	2	1745	c.753C>T	c.(751-753)gtC>gtT	p.V251V		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	251					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GAGAACATTCGACAGGCTTTC	0.478													26	82					0	0	0	0	A	174869350	G	A	174869350	2	1	286	1	0	0	0	0	0	0	0	1	4792	1045	37	1		1	DRD1	5	174869350	Silent	SNP	G	TCGA-CV-7183-01A-11D-2012-08	18335589	174869350	6045910	30	50902											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271609	26271609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagtctgcttggtgcgggCcatctcagactacctgaaag	8	10	12	11	1	2	2	1	1	2	1	3	2	2	2	2	2	4	2	2	2	2	2			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:26271609C>A	ENST00000305910.3	-	1	3	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	2					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						TTGGTGCGGGCCATCTCAGAC	0.552													11	44					3.86212e-05	4.62501e-05	1	0	A	26271609	C	A	26271609	3	1	286	1	0	0	0	0	1	0	0	0	7211	739	26	4	410	4	HIST1H3G	6	26271609	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08		26271609	144843458	31	50903											
KCNK5	8645	broad.mit.edu	37	chr6	39159505	39159505	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaagtagcggtacagggCgtggtagttggcgctggggt	7	8	19	7	4	0	0	0	0	0	0	0	1	0	0	0	6	2	5	0	6	4	4			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:39159505C>A	ENST00000359534.3	-	5	999	c.661G>T	c.(661-663)Gcc>Tcc	p.A221S		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	221					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGGTACAGGGCGTGGTAGTTG	0.567													42	109					6.5261e-18	9.04332e-18	1	0	A	39159505	C	A	39159505	3	1	286	1	0	0	0	0	1	0	0	0	8122	768	27	3	842	3	KCNK5	6	39159505	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	12887896	39159505	131955562	32	50904											
USP49	25862	broad.mit.edu	37	chr6	41774580	41774580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtggtcctcaatatagcGgccgcaggccacgtgggagc	7	6	16	12	4	1	0	1	0	0	0	2	1	2	1	3	5	2	1	3	5	3	2			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:41774580G>A	ENST00000394253.3	-	3	471	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	USP49_ENST00000297229.2_Missense_Mutation_p.R48C|USP49_ENST00000373006.1_Missense_Mutation_p.R48C|USP49_ENST00000373010.1_Missense_Mutation_p.R48C|USP49_ENST00000373009.3_Missense_Mutation_p.R48C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	48					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCAATATAGCGGCCGCAGGCC	0.592													5	132					0	0	0	0	A	41774580	G	A	41774580	3	1	286	1	0	0	0	0	1	0	0	0	17176	1116	39	1	1796	1	USP49	6	41774580	Missense_Mutation	SNP	G	TCGA-CV-7183-01A-11D-2012-08	2615075	41774580	129340487	33	50905											
DST	667	broad.mit.edu	37	chr6	56473921	56473921	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagctttacttagttctttGagttggcacagaatttgttc	8	19	8	6	0	1	2	0	1	1	1	2	2	1	2	0	1	2	5	0	1	4	9			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:56473921G>A	ENST00000370754.5	-	39	5405	c.5406C>T	c.(5404-5406)ctC>ctT	p.L1802L	DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Silent_p.L1624L|DST_ENST00000446842.2_Silent_p.L1298L|DST_ENST00000312431.6_Silent_p.L1624L|DST_ENST00000370769.4_Silent_p.L1624L			Q03001	DYST_HUMAN	dystonin	1624					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTAGTTCTTTGAGTTGGCACA	0.383													54	157					0	0	0	0	A	56473921	G	A	56473921	2	1	286	1	0	0	0	0	0	0	0	1	4819	1305	45	2		2	DST	6	56473921	Silent	SNP	G	TCGA-CV-7183-01A-11D-2012-08	14699341	56473921	114641146	34	50906											
NR2E1	7101	broad.mit.edu	37	chr6	108508599	108508599	+	Frame_Shift_Del	DEL	A	A	-																															ctatagaagaagtgtttttcAaaaaaaccatcggcaatgtg																										TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:108508599delA	ENST00000368986.4	+	9	1798	c.1090delA	c.(1090-1092)aafs	p.K365fs	NR2E1_ENST00000368983.3_Frame_Shift_Del_p.K402fs	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	365	Required for transcriptional repression (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		AGTGTTTTTCAAAAAAACCAT	0.408													45	137	---	---	---	---					-	108508599	A	-	108508599	7	5	286	1	0	1	0	1	0	0	0	0	10696	131	5	0	1124	0	NR2E1	6	108508599	Frame_Shift_Del	DEL	A	TCGA-CV-7183-01A-11D-2012-08	52034678	108508599	62606468	35	50907											
CHRM2	1129	broad.mit.edu	37	chr7	136699801	136699801	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaacaattactttttattCagcttggcctgtgctgacct	8	16	7	10	0	2	1	2	1	0	0	2	1	2	1	2	1	4	2	2	1	4	6			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr7:136699801C>T	ENST00000445907.2	+	3	717	c.189C>T	c.(187-189)ttC>ttT	p.F63F	CHRM2_ENST00000397608.3_Silent_p.F63F|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Silent_p.F63F|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Silent_p.F63F|CHRM2_ENST00000402486.3_Silent_p.F63F|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000401861.1_Silent_p.F63F	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	63					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACTTTTTATTCAGCTTGGCCT	0.468													33	94					0	0	0	0	T	136699801	C	T	136699801	2	4	286	1	0	0	0	0	0	0	0	1	3406	825	29	2		2	CHRM2	7	136699801	Silent	SNP	C	TCGA-CV-7183-01A-11D-2012-08		136699801	22438862	36	50908											
MCM4	4173	broad.mit.edu	37	chr8	48883929	48883929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctgtcagctcaatgcgcGcacctctgtcctggcagcag	7	9	10	15	2	4	0	2	0	2	0	5	0	5	0	2	1	3	4	2	1	1	0	rs151044076		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:48883929G>T	ENST00000262105.2	+	12	2038	c.1829G>T	c.(1828-1830)cGc>cTc	p.R610L	MCM4_ENST00000523944.1_Missense_Mutation_p.R610L	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	610	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTCAATGCGCGCACCTCTGTC	0.493													7	32					0.000274275	0.000312996	1	0	T	48883929	G	T	48883929	3	4	286	1	0	0	0	0	1	0	0	0	9458	1087	38	3	1875	3	MCM4	8	48883929	Missense_Mutation	SNP	G	TCGA-CV-7183-01A-11D-2012-08		48883929	97480093	37	50909											
PKHD1L1	93035	broad.mit.edu	37	chr8	110503288	110503288	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtatttgggacagatggaTtggacatagatgacaacatc	13	11	12	5	0	0	3	0	1	0	2	1	6	0	6	0	3	1	1	0	3	3	4			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:110503288T>A	ENST00000378402.5	+	61	10176	c.10072T>A	c.(10072-10074)Ttg>Atg	p.L3358M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3358					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACAGATGGATTGGACATAGA	0.378										HNSCC(38;0.096)			26	58					0	0	0	0	A	110503288	T	A	110503288	3	1	286	1	0	0	0	0	1	0	0	0	12044	1490	52	5	10314	5	PKHD1L1	8	110503288	Missense_Mutation	SNP	T	TCGA-CV-7183-01A-11D-2012-08	61619359	110503288	35860734	38	50910											
FAM135B	51059	broad.mit.edu	37	chr8	139164609	139164609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcactgggcaactccagagcCctgcttcgggcctctgacca	7	8	10	16	1	2	2	1	1	1	1	4	2	3	2	4	2	3	2	4	2	1	1			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:139164609C>A	ENST00000395297.1	-	13	2279	c.2109G>T	c.(2107-2109)agG>agT	p.R703S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	703								p.R703R(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTCCAGAGCCCTGCTTCGGG	0.547										HNSCC(54;0.14)			12	52					1.08611e-07	1.35067e-07	1	0	A	139164609	C	A	139164609	3	1	286	1	0	0	0	0	1	0	0	0	5490	622	22	4	2143	4	FAM135B	8	139164609	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	28661321	139164609	7199413	39	50911											
ARHGAP39	80728	broad.mit.edu	37	chr8	145771119	145771119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgaaagtggggaagaCgcagctggagctgggaacgc	11	4	18	8	3	0	2	0	1	0	1	0	5	0	5	0	4	4	3	0	4	3	0	rs141083413		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:145771119C>T	ENST00000276826.5	-	5	2236	c.2035G>A	c.(2035-2037)Gtc>Atc	p.V679I	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.V679I|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.V679I			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	679					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GTGGGGAAGACGCAGCTGGAG	0.647													9	40					0	0	0	0	T	145771119	C	T	145771119	3	4	286	1	0	0	0	0	1	0	0	0	886	536	19	1	1337	1	ARHGAP39	8	145771119	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	6606510	145771119	592903	40	50912											
UBAP1	51271	broad.mit.edu	37	chr9	34241766	34241766	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgtgaaaagatgtcacTgtcttccaaagtgtccctcc	11	11	7	12	0	2	2	1	1	1	1	5	2	5	2	3	0	1	0	3	0	4	1			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:34241766T>C	ENST00000536252.1	+	5	1141	c.743T>C	c.(742-744)cTg>cCg	p.L248P	UBAP1_ENST00000545103.1_Missense_Mutation_p.L312P|UBAP1_ENST00000543944.1_Missense_Mutation_p.L284P|UBAP1_ENST00000359544.2_Missense_Mutation_p.L248P|UBAP1_ENST00000379186.4_Missense_Mutation_p.L248P|UBAP1_ENST00000297661.4_Missense_Mutation_p.L248P|UBAP1_ENST00000540348.1_Missense_Mutation_p.L248P	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	248						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AAGATGTCACTGTCTTCCAAA	0.468													18	34					0	0	0	0	C	34241766	T	C	34241766	3	2	286	1	0	0	0	0	1	0	0	0	16932	1580	55	5	990	5	UBAP1	9	34241766	Missense_Mutation	SNP	T	TCGA-CV-7183-01A-11D-2012-08		34241766	106971665	41	50913											
CRB2	286204	broad.mit.edu	37	chr9	126133118	126133118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgcctgaggatctcGgtgagaacgtcctcctgggc	5	10	13	13	2	1	2	0	2	1	1	5	4	4	3	4	3	3	1	4	3	1	0			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:126133118G>A	ENST00000373631.3	+	7	1787	c.1786G>A	c.(1786-1788)Ggt>Agt	p.G596S	CRB2_ENST00000359999.3_Missense_Mutation_p.G596S|CRB2_ENST00000373629.2_Missense_Mutation_p.G264S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	596	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGAGGATCTCGGTGAGAACGT	0.652													3	68					0	0	0	0	A	126133118	G	A	126133118	3	1	286	1	0	0	0	0	1	0	0	0	3879	1116	39	1	1812	1	CRB2	9	126133118	Missense_Mutation	SNP	G	TCGA-CV-7183-01A-11D-2012-08	91891352	126133118	15080313	42	50914											
FAM78A	286336	broad.mit.edu	37	chr9	134136553	134136553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctctcgctgacgggcaCggcccatgtgacgctggggt	4	9	16	12	4	1	2	0	2	1	0	2	2	1	2	1	4	1	5	1	4	0	1			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:134136553C>T	ENST00000372271.3	-	2	875	c.508G>A	c.(508-510)Gtg>Atg	p.V170M	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.V167M	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	170										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CTGACGGGCACGGCCCATGTG	0.577													26	70					0	0	0	0	T	134136553	C	T	134136553	3	4	286	1	0	0	0	0	1	0	0	0	5672	536	19	1	347	1	FAM78A	9	134136553	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	8003435	134136553	7076878	43	50915											
SETX	23064	broad.mit.edu	37	chr9	135147149	135147149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acacgtaacaataacacaatCcttctgccgaccctggaatg	14	8	6	13	2	1	0	0	0	1	0	2	2	2	1	3	1	3	1	3	1	5	3			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:135147149C>T	ENST00000372169.2	-	24	7329	c.7147G>A	c.(7147-7149)Gat>Aat	p.D2383N	SETX_ENST00000477049.1_5'UTR|SETX_ENST00000393220.1_Intron|SETX_ENST00000224140.5_Missense_Mutation_p.D2383N			Q7Z333	SETX_HUMAN	senataxin	2383					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATAACACAATCCTTCTGCCGA	0.368													7	177					0	0	0	0	T	135147149	C	T	135147149	3	4	286	1	0	0	0	0	1	0	0	0	14228	855	30	2	898	2	SETX	9	135147149	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	1010596	135147149	6066282	44	50916											
C9orf96	169436	broad.mit.edu	37	chr9	136253278	136253278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggagttcaatgagctcagCttccaggaggtcattgagga	11	10	13	7	0	3	2	3	2	0	0	4	5	4	5	1	4	2	3	1	4	1	3			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:136253278C>A	ENST00000371957.3	+	5	449	c.342C>A	c.(340-342)agC>agA	p.S114R	C9orf96_ENST00000371955.1_5'UTR|C9orf96_ENST00000426926.2_Missense_Mutation_p.S114R	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	114	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATGAGCTCAGCTTCCAGGAGG	0.567													20	63					5.49717e-05	6.50275e-05	1	0	A	136253278	C	A	136253278	3	1	286	1	0	0	0	0	1	0	0	0	2533	796	28	4	360	4	C9orf96	9	136253278	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	1106129	136253278	4960153	45	50917											
PRLHR	2834	broad.mit.edu	37	chr10	120353933	120353933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagcaagcagaaggtgCgccggcgccgagcgcggtcc	8	2	15	16	6	0	1	0	0	0	1	1	2	1	1	5	3	4	2	5	3	2	0			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr10:120353933C>A	ENST00000239032.2	-	2	962	c.824G>T	c.(823-825)cGc>cTc	p.R275L	PRLHR_ENST00000369169.1_Missense_Mutation_p.R275L	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	275					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCAGAAGGTGCGCCGGCGCCG	0.687													7	25					2.0095e-06	2.43652e-06	1	0	A	120353933	C	A	120353933	3	1	286	1	0	0	0	0	1	0	0	0	12610	768	27	3	292	3	PRLHR	10	120353933	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08		120353933	15180814	46	50918											
HRAS	3265	broad.mit.edu	37	chr11	534289	534289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactcttgcccacaccgcCggcgcccaccaccaccagct	7	4	7	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	2	7	1	0	1	rs104894229		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr11:534289C>A	ENST00000417302.1	-	2	221	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C	HRAS_ENST00000397596.2_Missense_Mutation_p.G12C|HRAS_ENST00000311189.7_Missense_Mutation_p.G12C|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12C|HRAS_ENST00000451590.1_Missense_Mutation_p.G12C	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			7	44					2.0095e-06	2.43652e-06	1	0	A	534289	C	A	534289	3	1	286	1	0	0	0	0	1	0	0	0	7398	652	23	3	618	3	HRAS	11	534289	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08		534289	134472227	47	50919											
MRVI1	10335	broad.mit.edu	37	chr11	10650331	10650331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactgtaagtgagttgctccGagaggatgtaggagaagcgc	11	8	16	6	2	0	3	0	1	0	2	1	7	1	4	1	2	2	4	1	2	3	3			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr11:10650331G>A	ENST00000547195.1	-	5	846	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	MRVI1_ENST00000421747.1_Missense_Mutation_p.R198W|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.R198W|MRVI1_ENST00000552103.1_Missense_Mutation_p.R116W|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.R207W|MRVI1_ENST00000527509.2_Missense_Mutation_p.R116W|MRVI1_ENST00000436272.1_Missense_Mutation_p.R198W|MRVI1_ENST00000541483.1_Missense_Mutation_p.R207W|MRVI1_ENST00000534266.2_5'UTR	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	198					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GAGTTGCTCCGAGAGGATGTA	0.597													4	2					0	0	0	0	A	10650331	G	A	10650331	3	1	286	1	0	0	0	0	1	0	0	0	9923	1057	37	1	2183	1	MRVI1	11	10650331	Missense_Mutation	SNP	G	TCGA-CV-7183-01A-11D-2012-08	10116042	10650331	124356185	48	50920											
CAT	847	broad.mit.edu	37	chr11	34485744	34485744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaatattctggagaagtgCggagattcaacactgccaat	13	10	9	9	1	2	2	1	0	1	2	3	4	3	2	2	2	3	0	2	2	5	3	rs139875365	by1000genomes	TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr11:34485744C>T	ENST00000241052.4	+	10	1377	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	430					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TGGAGAAGTGCGGAGATTCAA	0.463													25	77					0	0	0	0	T	34485744	C	T	34485744	3	4	286	1	0	0	0	0	1	0	0	0	2711	759	27	1	1326	1	CAT	11	34485744	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	23835413	34485744	100520772	49	50921											
FAT3	120114	broad.mit.edu	37	chr11	92615997	92615997	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcctctgcaactgcacGccgggctacgtgggccagta	6	9	11	15	3	1	0	0	0	1	0	3	0	3	0	4	2	4	4	4	2	3	3			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr11:92615997G>T	ENST00000298047.6	+	23	12392	c.12375G>T	c.(12373-12375)acG>acT	p.T4125T	FAT3_ENST00000409404.2_Silent_p.T4125T|FAT3_ENST00000533797.1_Silent_p.T460T|FAT3_ENST00000525166.1_Silent_p.T3975T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4125	EGF-like 4; calcium-binding (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCAACTGCACGCCGGGCTACG	0.632										TCGA Ovarian(4;0.039)			4	22					1.23904e-05	1.5488e-05	1	0	T	92615997	G	T	92615997	2	4	286	1	0	0	0	0	0	0	0	1	5736	1074	38	3		3	FAT3	11	92615997	Silent	SNP	G	TCGA-CV-7183-01A-11D-2012-08	58130253	92615997	42390519	50	50922											
ALG10	84920	broad.mit.edu	37	chr12	34179455	34179455	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtttggaaattcacttatGctcataaatacttgctagca	13	15	6	7	0	2	0	2	0	0	0	2	1	2	1	0	1	4	4	0	1	7	8			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr12:34179455G>C	ENST00000266483.2	+	3	1346	c.1027G>C	c.(1027-1029)Gct>Cct	p.A343P	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	343					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				ATTCACTTATGCTCATAAATA	0.303													22	87					0	0	0	0	C	34179455	G	C	34179455	3	2	286	1	0	0	0	0	1	0	0	0	511	1319	46	4	1037	4	ALG10	12	34179455	Missense_Mutation	SNP	G	TCGA-CV-7183-01A-11D-2012-08		34179455	99672440	51	50923											
KLHL1	57626	broad.mit.edu	37	chr13	70549904	70549904	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtccaaatcactttgAggtgtcattgaatggccggt	9	12	12	8	1	2	2	2	2	0	0	3	3	3	3	2	4	0	0	2	4	2	2			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr13:70549904A>C	ENST00000377844.4	-	2	1287	c.528T>G	c.(526-528)ccT>ccG	p.P176P	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	176					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AATCACTTTGAGGTGTCATTG	0.398													14	42					0	0	0	0	C	70549904	A	C	70549904	2	2	286	1	0	0	0	0	0	0	0	1	8417	291	11	5		5	KLHL1	13	70549904	Silent	SNP	A	TCGA-CV-7183-01A-11D-2012-08		70549904	44619974	52	50924											
RNF113B	140432	broad.mit.edu	37	chr13	98828825	98828825	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccgttcaatctcccacccGagcttgtaatcggaacggtc	8	10	8	15	4	2	0	1	0	1	0	6	2	3	1	3	2	2	3	3	2	3	3			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr13:98828825G>A	ENST00000267291.6	-	1	694	c.666C>T	c.(664-666)ctC>ctT	p.L222L	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	222							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TCTCCCACCCGAGCTTGTAAT	0.532													32	93					0	0	0	0	A	98828825	G	A	98828825	2	1	286	1	0	0	0	0	0	0	0	1	13513	1045	37	1		1	RNF113B	13	98828825	Silent	SNP	G	TCGA-CV-7183-01A-11D-2012-08	28278921	98828825	16341053	53	50925											
CHD8	57680	broad.mit.edu	37	chr14	21863099	21863099	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcccgccgtgcaatttCtttcagcttgaaggctgctt	5	16	8	12	2	3	1	1	1	2	0	4	1	3	1	2	1	3	4	2	1	2	5			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr14:21863099C>A	ENST00000399982.2	-	29	5426	c.5362G>T	c.(5362-5364)Gaa>Taa	p.E1788*	CHD8_ENST00000557364.1_Nonsense_Mutation_p.E1788*|CHD8_ENST00000430710.3_Nonsense_Mutation_p.E1509*	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1788					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CGTGCAATTTCTTTCAGCTTG	0.493													24	62					5.61819e-17	7.56895e-17	1	0	A	21863099	C	A	21863099	4	1	286	1	0	0	0	0	0	1	0	0	3360	922	32	2	2419	2	CHD8	14	21863099	Nonsense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08		21863099	85486441	54	50926											
PSMC6	5706	broad.mit.edu	37	chr14	53175510	53175510	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctaccaatggaccaagAtatgttgtgggttgtcgtcg	11	11	12	7	2	0	1	0	0	0	1	2	2	0	2	2	2	2	3	2	2	5	4			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr14:53175510A>T	ENST00000445930.2	+	4	282	c.276A>T	c.(274-276)agA>agT	p.R92S	PSMC6_ENST00000606149.1_Missense_Mutation_p.R78S			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	78					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					ATGGACCAAGATATGTTGTGG	0.328													15	42					0	0	0	0	T	53175510	A	T	53175510	3	4	286	1	0	0	0	0	1	0	0	0	12770	330	12	5	290	5	PSMC6	14	53175510	Missense_Mutation	SNP	A	TCGA-CV-7183-01A-11D-2012-08	31312411	53175510	54174030	55	50927											
MAPKBP1	23005	broad.mit.edu	37	chr15	42109605	42109605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgatgggcaagtccgCatgatcagctgtggagcaga	10	7	15	9	1	1	3	1	2	0	1	2	4	2	4	2	2	2	4	2	2	1	0			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr15:42109605C>T	ENST00000457542.2	+	15	2017	c.1731C>T	c.(1729-1731)cgC>cgT	p.R577R	MAPKBP1_ENST00000456763.2_Silent_p.R583R|MAPKBP1_ENST00000514566.1_Silent_p.R577R|MAPKBP1_ENST00000221214.6_Silent_p.R460R|MAPKBP1_ENST00000260357.7_Silent_p.R416R	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	583										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGCAAGTCCGCATGATCAGCT	0.612													18	52					0	0	0	0	T	42109605	C	T	42109605	2	4	286	1	0	0	0	0	0	0	0	1	9361	697	25	4		4	MAPKBP1	15	42109605	Silent	SNP	C	TCGA-CV-7183-01A-11D-2012-08		42109605	60421787	56	50928											
TP53BP1	7158	broad.mit.edu	37	chr15	43771645	43771645	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtacatccttactgggCtgtgctgtcacagggatgtc	8	12	11	10	0	1	0	1	0	0	0	3	1	2	1	1	2	3	3	1	2	2	2			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr15:43771645C>T	ENST00000263801.3	-	7	975	c.723G>A	c.(721-723)caG>caA	p.Q241Q	TP53BP1_ENST00000450115.2_Silent_p.Q246Q|TP53BP1_ENST00000382039.3_Silent_p.Q246Q|TP53BP1_ENST00000382044.4_Silent_p.Q246Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	241					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCTTACTGGGCTGTGCTGTCA	0.418								Other conserved DNA damage response genes					29	61					0	0	0	0	T	43771645	C	T	43771645	2	4	286	1	0	0	0	0	0	0	0	1	16478	796	28	4		4	TP53BP1	15	43771645	Silent	SNP	C	TCGA-CV-7183-01A-11D-2012-08	1662040	43771645	58759747	57	50929											
GTF3C1	2975	broad.mit.edu	37	chr16	27504019	27504019	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaaggttctccaccacCgaaaaaatgtaacgcctaga	14	8	7	12	2	2	2	0	1	2	1	3	3	2	2	4	1	1	2	4	1	6	3			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr16:27504019C>T	ENST00000356183.4	-	18	2907	c.2892G>A	c.(2890-2892)tcG>tcA	p.S964S	GTF3C1_ENST00000561623.1_Silent_p.S964S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	964						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTCCACCACCGAAAAAATGT	0.557													32	74					0	0	0	0	T	27504019	C	T	27504019	2	4	286	1	0	0	0	0	0	0	0	1	6922	639	23	1		1	GTF3C1	16	27504019	Silent	SNP	C	TCGA-CV-7183-01A-11D-2012-08		27504019	62850734	58	50930											
SRCAP	10847	broad.mit.edu	37	chr16	30749849	30749850	+	Frame_Shift_Ins	INS	-	-	A																															gcccttcattgctcgccgtcINSacattgagctgggggtgact																										TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr16:30749849_30749850insA	ENST00000262518.4	+	34	8873_8874	c.8488_8489insA	c.(8488-8490)catfs	p.H2830fs	SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.H2672fs|SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.H2768fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2830	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGCTCGCCGTCACATTGAGCTG	0.644													18	84	---	---	---	---					A	30749850	-	A	30749849	7	5	286	1	0	1	1	0	0	0	0	0	15225	826	29	0	8614	0	SRCAP	16	30749849	Frame_Shift_Ins	INS	-	TCGA-CV-7183-01A-11D-2012-08	3245830	30749849	59604904	59	50931											
FHOD1	29109	broad.mit.edu	37	chr16	67264614	67264614	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccagctcatgcttggcCaagctccgcaggctctcctc	5	8	12	16	1	2	0	1	0	1	0	5	0	3	0	4	4	3	5	4	4	1	1			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr16:67264614C>T	ENST00000258201.4	-	18	2995	c.2748G>A	c.(2746-2748)ttG>ttA	p.L916L	FHOD1_ENST00000567687.1_Silent_p.L495L	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	916	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CATGCTTGGCCAAGCTCCGCA	0.662													41	150					0	0	0	0	T	67264614	C	T	67264614	2	4	286	1	0	0	0	0	0	0	0	1	5927	593	21	4		4	FHOD1	16	67264614	Silent	SNP	C	TCGA-CV-7183-01A-11D-2012-08	36514765	67264614	23090139	60	50932											
MYH4	4622	broad.mit.edu	37	chr17	10369888	10369888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggtcttggctgtcacctTccccccttccctgctctgca	2	14	7	18	1	3	0	1	0	2	0	6	0	5	0	5	2	2	3	5	2	0	4			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:10369888T>C	ENST00000255381.2	-	3	285	c.175A>G	c.(175-177)Aag>Gag	p.K59E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	59	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGTCACCTTCCCCCCTTCC	0.463													3	235					0	0	0	0	C	10369888	T	C	10369888	3	2	286	1	0	0	0	0	1	0	0	0	10107	1792	62	5	5796	5	MYH4	17	10369888	Missense_Mutation	SNP	T	TCGA-CV-7183-01A-11D-2012-08		10369888	70825322	61	50933											
KSR1	8844	broad.mit.edu	37	chr17	25936285	25936286	+	Frame_Shift_Del	DEL	TA	TA	-																															tcaaatctaagaacgtcttcTatgacaacggcaaggtggtc																										TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:25936285_25936286delTA	ENST00000398988.3	+	18	2255_2256	c.1810_1811delTA	c.(1810-1812)tfs	p.Y604fs	KSR1_ENST00000319524.6_Frame_Shift_Del_p.Y741fs|KSR1_ENST00000268763.6_Frame_Shift_Del_p.Y604fs|KSR1_ENST00000509603.2_Frame_Shift_Del_p.Y719fs	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	739					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GAACGTCTTCTATGACAACGGC	0.525													38	114	---	---	---	---					-	25936286	TA	-	25936285	7	5	286	1	0	1	0	1	0	0	0	0	8634	1522	53	0	1864	0	KSR1	17	25936285	Frame_Shift_Del	DEL	TA	TCGA-CV-7183-01A-11D-2012-08	15566397	25936285	55258925	62	50934											
NUFIP2	57532	broad.mit.edu	37	chr17	27613086	27613087	+	Frame_Shift_Del	DEL	TC	TC	-																															ctttctaggcctctctggtaTctctgttctttggcagagcc																										TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:27613086_27613087delTC	ENST00000225388.4	-	2	1983_1984	c.1925_1926delGA	c.(1924-1926)afs	p.R642fs	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	642						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTCTCTGGTATCTCTGTTCTTT	0.426													9	39	---	---	---	---					-	27613087	TC	-	27613086	7	5	286	1	0	1	0	1	0	0	0	0	10820	1432	50	0	173	0	NUFIP2	17	27613086	Frame_Shift_Del	DEL	TC	TCGA-CV-7183-01A-11D-2012-08	1676801	27613086	53582124	63	50935											
ADAM11	4185	broad.mit.edu	37	chr17	42855361	42855361	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcatctgtcagccagactgGacaggcaaagactgcagtat	12	8	11	10	0	2	2	1	0	1	2	2	3	2	3	1	2	3	4	1	2	2	1			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:42855361G>A	ENST00000200557.6	+	24	2281	c.2112G>A	c.(2110-2112)tgG>tgA	p.W704*	ADAM11_ENST00000535346.1_Nonsense_Mutation_p.W504*	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	704	EGF-like.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGCCAGACTGGACAGGCAAAG	0.612													37	127					0	0	0	0	A	42855361	G	A	42855361	4	1	286	1	0	0	0	0	0	1	0	0	235	1183	41	2	2206	2	ADAM11	17	42855361	Nonsense_Mutation	SNP	G	TCGA-CV-7183-01A-11D-2012-08	15242275	42855361	38339849	64	50936											
CA4	762	broad.mit.edu	37	chr17	58234830	58234830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggccagcatttctggaggagGactgcctgccccataccagg	8	7	13	13	0	1	0	0	0	1	0	1	3	1	3	5	5	4	1	5	5	1	2			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:58234830G>A	ENST00000300900.4	+	4	410	c.311G>A	c.(310-312)gGa>gAa	p.G104E		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	104					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TCTGGAGGAGGACTGCCTGCC	0.587													23	92					0	0	0	0	A	58234830	G	A	58234830	3	1	286	1	0	0	0	0	1	0	0	0	2543	1174	41	2	325	2	CA4	17	58234830	Missense_Mutation	SNP	G	TCGA-CV-7183-01A-11D-2012-08	15379469	58234830	22960380	65	50937											
TNRC6C	57690	broad.mit.edu	37	chr17	76082938	76082938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctctgcctgccaggttgCgcgcacaatcactaatctgc	7	11	9	14	2	3	0	1	0	2	0	4	0	3	0	2	1	4	2	2	1	2	2			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:76082938C>T	ENST00000335749.4	+	13	4126	c.3557C>T	c.(3556-3558)gCg>gTg	p.A1186V	TNRC6C_ENST00000301624.4_Missense_Mutation_p.A1189V|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A1186V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A1189V|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A1186V|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A1189V	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1189					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.A1189V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCCAGGTTGCGCGCACAATC	0.592													5	166					0	0	0	0	T	76082938	C	T	76082938	3	4	286	1	0	0	0	0	1	0	0	0	16436	768	27	1	3608	1	TNRC6C	17	76082938	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	17848108	76082938	5112272	66	50938											
FBN3	84467	broad.mit.edu	37	chr19	8174522	8174522	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatggactcacccacgcaGcccactccgctggggttcag	8	6	11	16	2	2	0	2	0	0	0	3	1	3	1	3	3	2	4	3	3	0	1			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:8174522G>T	ENST00000600128.1	-	35	4863	c.4449C>A	c.(4447-4449)ggC>ggA	p.G1483G	FBN3_ENST00000601739.1_Silent_p.G1483G|FBN3_ENST00000270509.2_Silent_p.G1483G			Q75N90	FBN3_HUMAN	fibrillin 3	1483	EGF-like 23; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACCCACGCAGCCCACTCCGC	0.582													24	79					5.35356e-11	6.92393e-11	1	0	T	8174522	G	T	8174522	2	4	286	1	0	0	0	0	0	0	0	1	5749	958	34	4		4	FBN3	19	8174522	Silent	SNP	G	TCGA-CV-7183-01A-11D-2012-08		8174522	50954461	67	50939											
MAST1	22983	broad.mit.edu	37	chr19	12958457	12958457	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccccctcctcctacgacaacGagatcgtgatgatgaatcac	11	8	7	15	3	1	4	1	3	0	1	4	6	3	4	4	0	2	0	4	0	3	1			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:12958457G>C	ENST00000251472.4	+	6	559	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	MAST1_ENST00000591495.1_Missense_Mutation_p.E170Q	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	174					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTACGACAACGAGATCGTGAT	0.652											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	54					0	0	0	0	C	12958457	G	C	12958457	3	2	286	1	0	0	0	0	1	0	0	0	9393	1059	37	3	542	3	MAST1	19	12958457	Missense_Mutation	SNP	G	TCGA-CV-7183-01A-11D-2012-08	4783935	12958457	46170526	68	50940											
APLP1	333	broad.mit.edu	37	chr19	36360482	36360482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggggagggggctggtgctgGgggtctcggtcctagggagc	3	7	24	7	1	1	0	0	0	1	0	3	2	2	2	1	9	2	2	1	9	1	1			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:36360482G>A	ENST00000586861.1	+	1	108	c.43G>A	c.(43-45)Ggg>Agg	p.G15R	APLP1_ENST00000537454.2_Intron|APLP1_ENST00000221891.4_Intron			P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	0					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTGGTGCTGGGGGTCTCGGT	0.706													5	12					0	0	0	0	A	36360482	G	A	36360482	3	1	286	1	0	0	0	0	1	0	0	0	780	1247	43	4		4	APLP1	19	36360482	Missense_Mutation	SNP	G	TCGA-CV-7183-01A-11D-2012-08	23402025	36360482	22768501	69	50941											
SYMPK	8189	broad.mit.edu	37	chr19	46318949	46318949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaggtcagcccgcccgctgCcgtctcctggtgaccgggga	5	6	14	16	4	2	1	1	1	1	0	3	2	2	2	5	4	2	1	5	4	1	0			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:46318949C>T	ENST00000245934.7	-	27	3938	c.3694G>A	c.(3694-3696)Gca>Aca	p.A1232T	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1232					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCGCCCGCTGCCGTCTCCTGG	0.701													4	13					0	0	0	0	T	46318949	C	T	46318949	3	4	286	1	0	0	0	0	1	0	0	0	15530	739	26	4	134	4	SYMPK	19	46318949	Missense_Mutation	SNP	C	TCGA-CV-7183-01A-11D-2012-08	9958467	46318949	12810034	70	50942											
IRF2BP1	26145	broad.mit.edu	37	chr19	46388435	46388436	+	Frame_Shift_Del	DEL	TC	TC	-																															gtccgcattcctctgctgctTctctttctcgaaatcggagc																										TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:46388435_46388436delTC	ENST00000302165.3	-	1	940_941	c.597_598delGA	c.(595-600)gaagfs	p.EK199fs		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CTCTGCTGCTTCTCTTTCTCGA	0.644													55	158	---	---	---	---					-	46388436	TC	-	46388435	7	5	286	1	0	1	0	1	0	0	0	0	7882	1792	62	0	1160	0	IRF2BP1	19	46388435	Frame_Shift_Del	DEL	TC	TCGA-CV-7183-01A-11D-2012-08	69486	46388435	12740548	71	50943											
KLK4	9622	broad.mit.edu	37	chr19	51413946	51413946	+	Frame_Shift_Del	DEL	G	G	-																															tcagatacctgcgacaccaaGgatgaggtaccccaggaacc																										TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:51413946delG	ENST00000324041.1	-	1	48	c.49delC	c.(49-51)ttfs	p.L17fs		NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	17					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCGACACCAAGGATGAGGTAC	0.552													2	4	---	---	---	---					-	51413946	G	-	51413946	7	5	286	1	0	1	0	1	0	0	0	0	8458	1000	35	0	735	0	KLK4	19	51413946	Frame_Shift_Del	DEL	G	TCGA-CV-7183-01A-11D-2012-08	5025511	51413946	7715037	72	50944											
LILRA1	11024	broad.mit.edu	37	chr19	55107315	55107315	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgtgagccgctcctaCgggggccagtacagatgctc	6	7	14	14	2	0	2	0	1	0	1	2	2	1	2	4	3	4	3	4	3	2	2			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:55107315C>T	ENST00000251372.3	+	6	1055	c.873C>T	c.(871-873)taC>taT	p.Y291Y	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	291	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCGCTCCTACGGGGGCCAGT	0.662													28	70					0	0	0	0	T	55107315	C	T	55107315	2	4	286	1	0	0	0	0	0	0	0	1	8838	547	19	1		1	LILRA1	19	55107315	Silent	SNP	C	TCGA-CV-7183-01A-11D-2012-08	3693369	55107315	4021668	73	50945											
VPS16	64601	broad.mit.edu	37	chr20	2844656	2844656	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaaccagaagctgggggAcacgcctggtgtctcttact	9	10	11	11	1	1	1	0	0	1	1	2	2	1	2	2	3	3	1	2	3	3	2			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr20:2844656A>G	ENST00000380445.3	+	16	1610	c.1538A>G	c.(1537-1539)gAc>gGc	p.D513G	VPS16_ENST00000380443.3_Missense_Mutation_p.D199G|VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.D369G	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	513					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AAGCTGGGGGACACGCCTGGT	0.582													5	64					0	0	0	0	G	2844656	A	G	2844656	3	3	286	1	0	0	0	0	1	0	0	0	17289	275	10	5	1600	5	VPS16	20	2844656	Missense_Mutation	SNP	A	TCGA-CV-7183-01A-11D-2012-08		2844656	60180864	74	50946											
NINL	22981	broad.mit.edu	37	chr20	25460831	25460831	+	Frame_Shift_Del	DEL	T	T	-																															gggtcctgaggtcttggtaaTgctcctttacctgctccatc																										TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr20:25460831delT	ENST00000278886.6	-	15	1956	c.1883delA	c.(1882-1884)ctfs	p.H628fs	NINL_ENST00000422516.1_Frame_Shift_Del_p.H628fs	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	628					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTCTTGGTAATGCTCCTTTAC	0.532													16	44	---	---	---	---					-	25460831	T	-	25460831	7	5	286	1	0	1	0	1	0	0	0	0	10490	1464	51	0	2305	0	NINL	20	25460831	Frame_Shift_Del	DEL	T	TCGA-CV-7183-01A-11D-2012-08	22616175	25460831	37564689	75	50947											
PHACTR3	116154	broad.mit.edu	37	chr20	58318189	58318189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaaacgcccccggcgcGtcctgaatatctggtctcag	8	7	11	15	4	2	1	1	1	2	0	4	2	3	2	4	3	1	0	4	3	3	1	rs143288140		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr20:58318189G>A	ENST00000371015.1	+	2	613	c.146G>A	c.(145-147)cGt>cAt	p.R49H	PHACTR3_ENST00000359926.3_Missense_Mutation_p.R46H|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R8H|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R8H	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	49						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.R49H(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCCCGGCGCGTCCTGAATAT	0.567													24	86					0	0	0	0	A	58318189	G	A	58318189	3	1	286	1	0	0	0	0	1	0	0	0	11883	1145	40	1	152	1	PHACTR3	20	58318189	Missense_Mutation	SNP	G	TCGA-CV-7183-01A-11D-2012-08	32857358	58318189	4707331	76	50948											
IRAK1	3654	broad.mit.edu	37	chrX	153278841	153278841	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctccgaatgcccgggcAcccccgccaccactgcctgc	5	4	10	22	4	0	0	0	0	0	0	1	1	1	0	8	2	3	1	8	2	1	0			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chrX:153278841A>C	ENST00000369980.3	-	12	1750	c.1583T>G	c.(1582-1584)gTg>gGg	p.V528G	IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393682.1_Intron|IRAK1_ENST00000393687.2_Intron|IRAK1_ENST00000369974.2_Missense_Mutation_p.V449G|IRAK1_ENST00000429936.2_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	528					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCCGGGCACCCCCGCCAC	0.662													6	21					0	0	0	0	C	153278841	A	C	153278841	3	2	286	1	0	0	0	0	1	0	0	0	7874	159	6	5	567	5	IRAK1	23	153278841	Missense_Mutation	SNP	A	TCGA-CV-7183-01A-11D-2012-08		153278841	1991719	77	50949											
RER1	11079	broad.mit.edu	37	chr1	2327276	2327276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccgtccatgggaaaccttCggtggtgtacagatttttca	9	13	10	9	2	1	1	1	0	0	1	4	2	3	2	3	3	2	1	3	3	2	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:2327276C>T	ENST00000605895.1	+	2	180	c.47C>T	c.(46-48)tCg>tTg	p.S16L	RER1_ENST00000378512.1_Missense_Mutation_p.S16L|RER1_ENST00000378513.3_Missense_Mutation_p.S16L|RER1_ENST00000488353.1_Missense_Mutation_p.S16L|RER1_ENST00000378518.1_Missense_Mutation_p.S16L	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	16					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GGGAAACCTTCGGTGGTGTAC	0.413													14	60					0	0	0	0	T	2327276	C	T	2327276	3	4	287	1	0	0	0	0	1	0	0	0	13312	893	31	1	49	1	RER1	1	2327276	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08		2327276	246923345	1	50950											
PRAMEF16	654348	broad.mit.edu	37	chr1	13495995	13495995	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttcaagtgctggatttgCgggatgttgatgggaatttc	9	14	13	5	1	1	1	1	1	0	0	2	4	1	4	0	3	3	2	0	3	3	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:13495995C>A	ENST00000376121.3	+	2	346	c.316C>A	c.(316-318)Cgg>Agg	p.R106R		NM_001045480.1	NP_001038945.1	Q5VWM1	PRA16_HUMAN	PRAME family member 16	106												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGATTTGCGGGATGTTGA	0.522													59	54					3.33908e-46	5.33827e-46	1	0	A	13495995	C	A	13495995	2	1	287	1	0	0	0	0	0	0	0	1	12508	759	27	3		3	PRAMEF16	1	13495995	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08	11168719	13495995	235754626	2	50951											
PADI1	29943	broad.mit.edu	37	chr1	17552556	17552556	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacatgtccccaatgctgctGagctgcaatggccccgacaa	10	7	10	14	1	0	1	0	1	0	0	1	3	1	1	4	1	4	4	4	1	3	0			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:17552556G>C	ENST00000375471.4	+	6	647	c.555G>C	c.(553-555)ctG>ctC	p.L185L		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	185					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CAATGCTGCTGAGCTGCAATG	0.567													10	62					0	0	0	0	C	17552556	G	C	17552556	2	2	287	1	0	0	0	0	0	0	0	1	11448	1277	45	2		2	PADI1	1	17552556	Silent	SNP	G	TCGA-CV-7235-01A-11D-2012-08	4056561	17552556	231698065	3	50952											
ARID1A	8289	broad.mit.edu	37	chr1	27106940	27106940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacagcctggcagctcgtgCcattgcagtgcagaagggca	9	6	15	11	1	0	1	0	0	0	1	1	2	0	2	2	3	5	5	2	3	1	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:27106940C>T	ENST00000324856.7	+	20	6922	c.6551C>T	c.(6550-6552)gCc>gTc	p.A2184V	ARID1A_ENST00000540690.1_Missense_Mutation_p.A512V|ARID1A_ENST00000457599.2_Missense_Mutation_p.A1967V|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1801V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2184					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.A2182fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCTCGTGCCATTGCAGTG	0.632			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								4	81					0	0	0	0	T	27106940	C	T	27106940	3	4	287	1	0	0	0	0	1	0	0	0	915	739	26	4	6629	4	ARID1A	1	27106940	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	9554384	27106940	222143681	4	50953											
PSMB2	5690	broad.mit.edu	37	chr1	36068938	36068938	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtcaatgattcgaacaCtgaaggttggcagattcagg	11	13	11	6	1	2	3	2	2	0	1	3	4	2	3	0	3	1	2	0	3	3	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:36068938C>G	ENST00000373237.3	-	6	947	c.536G>C	c.(535-537)aGt>aCt	p.S179T		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	179					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	GATTCGAACACTGAAGGTTGG	0.468													15	74					0	0	0	0	G	36068938	C	G	36068938	3	3	287	1	0	0	0	0	1	0	0	0	12756	565	20	4	73	4	PSMB2	1	36068938	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	8961998	36068938	213181683	5	50954											
FOXJ3	22887	broad.mit.edu	37	chr1	42645494	42645494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggttcatggctctgtgatGgcctggaaggaaagaggcaa	10	9	15	7	0	2	2	1	1	1	1	2	4	2	4	1	6	0	3	1	6	3	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:42645494G>A	ENST00000372572.1	-	15	2067	c.1756C>T	c.(1756-1758)Cat>Tat	p.H586Y	FOXJ3_ENST00000372573.1_Missense_Mutation_p.H586Y|FOXJ3_ENST00000361776.1_Missense_Mutation_p.H552Y|FOXJ3_ENST00000372571.1_Missense_Mutation_p.H100Y|FOXJ3_ENST00000361346.1_Missense_Mutation_p.H586Y|FOXJ3_ENST00000545068.1_Missense_Mutation_p.H586Y	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	586					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTCTGTGATGGCCTGGAAGG	0.493													44	251					0	0	0	0	A	42645494	G	A	42645494	3	1	287	1	0	0	0	0	1	0	0	0	6060	1348	47	4	116	4	FOXJ3	1	42645494	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	6576556	42645494	206605127	6	50955											
KDM4A	9682	broad.mit.edu	37	chr1	44156525	44156525	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccccttaggttgaatttGgaggctttaatcagaactgt	9	16	9	7	0	1	2	1	1	0	1	2	3	2	3	2	3	1	2	2	3	4	6			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:44156525G>T	ENST00000372396.3	+	14	2181	c.2047G>T	c.(2047-2049)Gga>Tga	p.G683*		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	683					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GGTTGAATTTGGAGGCTTTAA	0.478													7	663					0.00621372	0.00856947	1	0	T	44156525	G	T	44156525	4	4	287	1	0	0	0	0	0	1	0	0	8181	1349	47	4	2097	4	KDM4A	1	44156525	Nonsense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	1511031	44156525	205094096	7	50956											
CDKN2C	1031	broad.mit.edu	37	chr1	51439744	51439744	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aacatcgaggataatgaaggGaacctgcccttgcacttggc	12	8	11	10	1	0	1	0	1	0	0	1	4	0	3	2	3	4	1	2	3	4	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:51439744G>C	ENST00000262662.1	+	4	2343	c.309G>C	c.(307-309)ggG>ggC	p.G103G	CDKN2C_ENST00000371761.3_Silent_p.G103G|CDKN2C_ENST00000396148.1_Silent_p.G103G			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	103					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		ATAATGAAGGGAACCTGCCCT	0.532			D		"glioma, MM"								6	59					0	0	0	0	C	51439744	G	C	51439744	2	2	287	1	0	0	0	0	0	0	0	1	3194	1161	41	2		2	CDKN2C	1	51439744	Silent	SNP	G	TCGA-CV-7235-01A-11D-2012-08	7283219	51439744	197810877	8	50957											
SV2A	9900	broad.mit.edu	37	chr1	149884914	149884914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccactggaagcggccgtggCcacactcccgtaggatggct	7	7	13	14	3	0	0	0	0	0	0	2	2	2	2	4	5	1	2	4	5	2	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:149884914C>T	ENST00000369146.3	-	2	969	c.479G>A	c.(478-480)gGc>gAc	p.G160D	SV2A_ENST00000369145.1_Missense_Mutation_p.G160D	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	160					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCGGCCGTGGCCACACTCCCG	0.617													57	63					0	0	0	0	T	149884914	C	T	149884914	3	4	287	1	0	0	0	0	1	0	0	0	15507	739	26	4	1797	4	SV2A	1	149884914	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	98445170	149884914	99365707	9	50958											
TCHH	7062	broad.mit.edu	37	chr1	152085381	152085381	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacaggctctcctttccGtcacaccgggctcgcttctc	5	12	8	16	3	3	0	1	0	2	0	7	0	4	0	3	2	1	4	3	2	1	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:152085381G>A	ENST00000368804.1	-	2	311	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	104					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCTTTCCGTCACACCGGG	0.527													135	97					0	0	0	0	A	152085381	G	A	152085381	2	1	287	1	0	0	0	0	0	0	0	1	15794	1136	40	1		1	TCHH	1	152085381	Silent	SNP	G	TCGA-CV-7235-01A-11D-2012-08	2200467	152085381	97165240	10	50959											
LCE2A	353139	broad.mit.edu	37	chr1	152671632	152671632	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaccggcaccagagcccCgattgttgtgagtgtgaacc	8	7	13	13	3	0	3	0	2	0	1	0	4	0	3	5	2	2	3	5	2	1	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:152671632C>T	ENST00000368779.1	+	2	306	c.255C>T	c.(253-255)ccC>ccT	p.P85P		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	85	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCAGAGCCCCGATTGTTGTG	0.657													120	82					0	0	0	0	T	152671632	C	T	152671632	2	4	287	1	0	0	0	0	0	0	0	1	8718	639	23	1		1	LCE2A	1	152671632	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08	586251	152671632	96578989	11	50960											
GON4L	54856	broad.mit.edu	37	chr1	155744943	155744943	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaagggcgatggagctttGagcaaaggttcccagctctt	9	10	14	8	1	1	2	0	2	1	0	2	4	2	3	1	3	3	4	1	3	2	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:155744943G>A	ENST00000437809.1	-	17	2322	c.2200C>T	c.(2200-2202)Caa>Taa	p.Q734*	GON4L_ENST00000368331.1_Nonsense_Mutation_p.Q734*|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q734*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q734*			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	734					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATGGAGCTTTGAGCAAAGGTT	0.438													17	129					0	0	0	0	A	155744943	G	A	155744943	4	1	287	1	0	0	0	0	0	1	0	0	6620	1299	45	2	4703	2	GON4L	1	155744943	Nonsense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	3073311	155744943	93505678	12	50961											
FCRLA	84824	broad.mit.edu	37	chr1	161677051	161677051	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggagacctaaacacagtCaccatgaagctgggctgtgt	12	7	12	10	0	1	2	1	1	0	1	1	3	1	2	2	2	2	3	2	2	3	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:161677051C>T	ENST00000367959.2	+	1	290	c.48C>T	c.(46-48)gtC>gtT	p.V16V	FCRLA_ENST00000367957.2_Silent_p.V16V|FCRLA_ENST00000546024.1_Silent_p.V16V|FCRLA_ENST00000350710.3_Silent_p.V16V|FCRLA_ENST00000540926.1_5'UTR|FCRLA_ENST00000540521.1_Silent_p.V16V|FCRLA_ENST00000349527.4_5'UTR|FCRLA_ENST00000236938.6_Silent_p.V16V|FCRLA_ENST00000367949.2_Silent_p.V16V	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	0					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TAAACACAGTCACCATGAAGC	0.463													6	33					0	0	0	0	T	161677051	C	T	161677051	2	4	287	1	0	0	0	0	0	0	0	1	5845	813	29	2		2	FCRLA	1	161677051	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08	5932108	161677051	87573570	13	50962											
DUSP27	92235	broad.mit.edu	37	chr1	167088559	167088559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgctgcgcatggcaccGgcgtttacactggccccgaa	8	8	12	13	4	0	1	0	1	0	0	0	2	0	1	3	3	3	4	3	3	3	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:167088559G>A	ENST00000361200.2	+	5	677	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	DUSP27_ENST00000271385.5_Missense_Mutation_p.G171S|DUSP27_ENST00000443333.1_Missense_Mutation_p.G171S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	171					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCATGGCACCGGCGTTTACAC	0.567													4	37					0	0	0	0	A	167088559	G	A	167088559	3	1	287	1	0	0	0	0	1	0	0	0	4860	1116	39	1	525	1	DUSP27	1	167088559	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	5411508	167088559	82162062	14	50963											
F5	2153	broad.mit.edu	37	chr1	169510609	169510609	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatggctgaggtctggagaaAgggttgtatggctgaggtct	8	12	17	4	0	2	3	0	2	2	1	2	4	2	3	0	6	0	4	0	6	3	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:169510609A>G	ENST00000367796.3	-	13	3935	c.3734T>C	c.(3733-3735)cTt>cCt	p.L1245P	F5_ENST00000367797.3_Missense_Mutation_p.L1240P			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1240	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTCTGGAGAAAGGGTTGTATG	0.527													4	346					0	0	0	0	G	169510609	A	G	169510609	3	3	287	1	0	0	0	0	1	0	0	0	5386	72	3	5	3007	5	F5	1	169510609	Missense_Mutation	SNP	A	TCGA-CV-7235-01A-11D-2012-08	2422050	169510609	79740012	15	50964											
TNN	63923	broad.mit.edu	37	chr1	175097245	175097245	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacctaccctgtctccctTgttgcctttaagggtggtcg	4	13	10	14	1	1	0	0	0	1	0	3	0	1	0	5	2	2	1	5	2	2	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:175097245T>G	ENST00000239462.4	+	14	3236	c.3123T>G	c.(3121-3123)ctT>ctG	p.L1041L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1041	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGTCTCCCTTGTTGCCTTTA	0.537													8	57					0	0	0	0	G	175097245	T	G	175097245	2	3	287	1	0	0	0	0	0	0	0	1	16417	1799	63	5		5	TNN	1	175097245	Silent	SNP	T	TCGA-CV-7235-01A-11D-2012-08	5586636	175097245	74153376	16	50965											
UCHL5	51377	broad.mit.edu	37	chr1	192985497	192985497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttcatttggtttcctgaGctttctttgcgttctgtttt	3	23	7	8	1	4	1	1	1	3	0	5	1	5	1	1	1	2	4	1	1	0	8			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:192985497G>C	ENST00000367455.3	-	11	1209	c.974C>G	c.(973-975)gCt>gGt	p.A325G	UCHL5_ENST00000367454.1_Missense_Mutation_p.A324G|UCHL5_ENST00000367451.4_Missense_Mutation_p.A351G	NM_015984.3	NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	325	Interaction with ADRM1.				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						GGTTTCCTGAGCTTTCTTTGC	0.289													12	121					0	0	0	0	C	192985497	G	C	192985497	3	2	287	1	0	0	0	0	1	0	0	0	17018	971	34	4	19	4	UCHL5	1	192985497	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	17888252	192985497	56265124	17	50966											
KCNT2	343450	broad.mit.edu	37	chr1	196295872	196295872	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atccaatagcagtactatggGattaagttctttctttggtc	10	16	8	7	0	2	0	0	0	2	0	4	1	3	1	1	2	2	3	1	2	5	7			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:196295872G>C	ENST00000367433.5	-	19	2352	c.2251C>G	c.(2251-2253)Ccc>Gcc	p.P751A	KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000451324.2_Missense_Mutation_p.P362A|KCNT2_ENST00000367431.4_Missense_Mutation_p.P701A|KCNT2_ENST00000294725.8_Missense_Mutation_p.P751A			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	751						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTACTATGGGATTAAGTTCT	0.284													3	38					0	0	0	0	C	196295872	G	C	196295872	3	2	287	1	0	0	0	0	1	0	0	0	8145	1174	41	2	1196	2	KCNT2	1	196295872	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	3310375	196295872	52954749	18	50967											
KDM5B	10765	broad.mit.edu	37	chr1	202733221	202733221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacccattcgacgtctcagaTtatgagttctggcttccgtt	8	14	8	11	3	2	2	1	1	2	1	5	3	3	2	2	1	1	3	2	1	2	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:202733221T>C	ENST00000367265.3	-	6	1928	c.764A>G	c.(763-765)aAt>aGt	p.N255S	KDM5B_ENST00000367264.2_Missense_Mutation_p.N291S	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	255					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACGTCTCAGATTATGAGTTCT	0.303													11	42					0	0	0	0	C	202733221	T	C	202733221	3	2	287	1	0	0	0	0	1	0	0	0	8186	1493	52	5	3958	5	KDM5B	1	202733221	Missense_Mutation	SNP	T	TCGA-CV-7235-01A-11D-2012-08	6437349	202733221	46517400	19	50968											
RYR2	6262	broad.mit.edu	37	chr1	237969513	237969513	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttttttttgccgctcaccTtctcgacattgctatgggat	5	18	7	11	2	2	0	1	0	1	0	3	2	2	1	2	1	2	2	2	1	1	7			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:237969513T>C	ENST00000366574.2	+	99	14545	c.14228T>C	c.(14227-14229)cTt>cCt	p.L4743P	RYR2_ENST00000360064.6_Missense_Mutation_p.L4749P|RYR2_ENST00000542537.1_Missense_Mutation_p.L4727P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4743					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCGCTCACCTTCTCGACATT	0.408													24	35					0	0	0	0	C	237969513	T	C	237969513	3	2	287	1	0	0	0	0	1	0	0	0	13854	1609	56	5	14622	5	RYR2	1	237969513	Missense_Mutation	SNP	T	TCGA-CV-7235-01A-11D-2012-08	35236292	237969513	11281108	20	50969											
OR2T2	401992	broad.mit.edu	37	chr1	248616736	248616736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgctgcttatccctctatCtgtcatctctgtctcctaca	6	16	5	14	0	5	0	1	0	4	0	8	1	6	0	2	0	3	2	2	0	3	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:248616736C>T	ENST00000342927.3	+	1	660	c.638C>T	c.(637-639)tCt>tTt	p.S213F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCCTCTATCTGTCATCTCT	0.537													9	143					0	0	0	0	T	248616736	C	T	248616736	3	4	287	1	0	0	0	0	1	0	0	0	11091	913	32	2	640	2	OR2T2	1	248616736	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	10647223	248616736	633885	21	50970											
APOB	338	broad.mit.edu	37	chr2	21224635	21224635	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaagttctcctggagcaagCttcatgtaggggttcatgac	9	12	12	8	0	3	1	2	1	1	0	4	2	3	2	1	3	2	6	1	3	3	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:21224635C>G	ENST00000233242.1	-	29	13786	c.13659G>C	c.(13657-13659)aaG>aaC	p.K4553N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4553					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGAGCAAGCTTCATGTAGG	0.348													14	76					0	0	0	0	G	21224635	C	G	21224635	3	3	287	1	0	0	0	0	1	0	0	0	787	796	28	4	36	4	APOB	2	21224635	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08		21224635	221974738	22	50971											
AFF3	3899	broad.mit.edu	37	chr2	100209981	100209984	+	Frame_Shift_Del	DEL	GTTG	GTTG	-																															gccctaggaccactgcccccGttggcagcggcctccttcag																										TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:100209981_100209984delGTTG	ENST00000317233.4	-	14	2374_2377	c.2139_2142delCAAC	c.(2137-2142)gcfs	p.AN713fs	AFF3_ENST00000409236.1_Frame_Shift_Del_p.AN713fs|AFF3_ENST00000356421.2_Frame_Shift_Del_p.AN738fs|AFF3_ENST00000409579.1_Frame_Shift_Del_p.AN738fs	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	713					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACTGCCCCCGTTGGCAGCGGCCT	0.627													37	42	---	---	---	---					-	100209984	GTTG	-	100209981	7	5	287	1	0	1	0	1	0	0	0	0	358	1136	40	0	1582	0	AFF3	2	100209981	Frame_Shift_Del	DEL	GTTG	TCGA-CV-7235-01A-11D-2012-08	78985346	100209981	142989392	23	50972											
NMS	129521	broad.mit.edu	37	chr2	101097599	101097599	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgttgcaggatcacactgcGacctggggacgacccttttt	8	11	11	11	2	1	0	1	0	0	0	1	4	1	2	2	3	2	2	2	3	0	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:101097599G>A	ENST00000376865.1	+	8	391	c.384G>A	c.(382-384)gcG>gcA	p.A128A		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	128					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						ATCACACTGCGACCTGGGGAC	0.418													18	94					0	0	0	0	A	101097599	G	A	101097599	2	1	287	1	0	0	0	0	0	0	0	1	10572	1045	37	1		1	NMS	2	101097599	Silent	SNP	G	TCGA-CV-7235-01A-11D-2012-08	887618	101097599	142101774	24	50973											
GCC2	9648	broad.mit.edu	37	chr2	109086566	109086566	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgatgtgccagattgaaGcatcagctaaggaacatgaa	15	9	11	6	0	1	4	1	3	0	1	1	5	1	5	1	1	4	3	1	1	4	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:109086566G>C	ENST00000309863.6	+	6	1495	c.781G>C	c.(781-783)Gca>Cca	p.A261P	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	261					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CCAGATTGAAGCATCAGCTAA	0.358													26	91					0	0	0	0	C	109086566	G	C	109086566	3	2	287	1	0	0	0	0	1	0	0	0	6335	971	34	4	803	4	GCC2	2	109086566	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	7988967	109086566	134112807	25	50974											
GTDC1	79712	broad.mit.edu	37	chr2	144764954	144764954	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtatcaaggccacagtgtgTatcacactctgaattaaaat	15	11	7	8	0	3	1	2	1	1	0	3	1	3	1	1	1	0	2	1	1	6	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:144764954T>A	ENST00000409214.1	-	7	948	c.670A>T	c.(670-672)Aca>Tca	p.T224S	GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000542155.1_Missense_Mutation_p.T224S|GTDC1_ENST00000344850.4_Missense_Mutation_p.T224S|GTDC1_ENST00000241391.5_Missense_Mutation_p.T224S|GTDC1_ENST00000392869.1_Missense_Mutation_p.T224S|GTDC1_ENST00000392867.3_Missense_Mutation_p.T224S|GTDC1_ENST00000463875.2_Missense_Mutation_p.T95S	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	224					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CCACAGTGTGTATCACACTCT	0.418													34	33					0	0	0	0	A	144764954	T	A	144764954	3	1	287	1	0	0	0	0	1	0	0	0	6901	1638	57	5	730	5	GTDC1	2	144764954	Missense_Mutation	SNP	T	TCGA-CV-7235-01A-11D-2012-08	35678388	144764954	98434419	26	50975											
RIF1	55183	broad.mit.edu	37	chr2	152285383	152285383	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagcacccatgattaaaaAgatagcttttattgcttgga	13	13	9	6	0	0	2	0	1	0	1	0	4	0	4	1	2	3	3	1	2	5	6			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:152285383A>C	ENST00000243326.4	+	8	1355	c.872A>C	c.(871-873)aAg>aCg	p.K291T	RIF1_ENST00000433166.2_Missense_Mutation_p.K260T|RIF1_ENST00000444746.2_Missense_Mutation_p.K291T|RIF1_ENST00000430328.2_Missense_Mutation_p.K291T|RIF1_ENST00000453091.2_Missense_Mutation_p.K291T|RIF1_ENST00000428287.2_Missense_Mutation_p.K291T			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	291					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATGATTAAAAAGATAGCTTTT	0.323													8	24					0	0	0	0	C	152285383	A	C	152285383	3	2	287	1	0	0	0	0	1	0	0	0	13442	72	3	5	902	5	RIF1	2	152285383	Missense_Mutation	SNP	A	TCGA-CV-7235-01A-11D-2012-08	7520429	152285383	90913990	27	50976											
TANC1	85461	broad.mit.edu	37	chr2	160006935	160006935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacactaacaagcagcaccGcatctcctagcaccgatagc	13	5	6	17	2	1	0	0	0	1	0	2	1	1	0	4	0	5	4	4	0	4	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:160006935G>T	ENST00000263635.6	+	7	787	c.550G>T	c.(550-552)Gca>Tca	p.A184S	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	184	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAGCAGCACCGCATCTCCTAG	0.527													16	13					1.67942e-08	2.45078e-08	1	0	T	160006935	G	T	160006935	3	4	287	1	0	0	0	0	1	0	0	0	15635	1087	38	3	568	3	TANC1	2	160006935	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	7721552	160006935	83192438	28	50977											
SCN1A	6323	broad.mit.edu	37	chr2	166894613	166894613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attagcatatttaacgttggCcaagattttgccaacttgaa	13	14	7	7	1	0	2	0	1	0	1	0	2	0	2	2	1	4	2	2	1	6	8			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:166894613C>A	ENST00000423058.2	-	15	2636	c.2619G>T	c.(2617-2619)tgG>tgT	p.W873C	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.W845C|SCN1A_ENST00000375405.3_Missense_Mutation_p.W862C|SCN1A_ENST00000303395.4_Missense_Mutation_p.W873C|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	873						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTAACGTTGGCCAAGATTTTG	0.373													11	75					2.80697e-09	4.16894e-09	1	0	A	166894613	C	A	166894613	3	1	287	1	0	0	0	0	1	0	0	0	14001	740	26	4	3458	4	SCN1A	2	166894613	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	6887678	166894613	76304760	29	50978											
TTN	7273	broad.mit.edu	37	chr2	179552943	179552943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagtaactccattcctcctCtgcagatactttaaaagata	13	13	5	10	0	1	3	0	1	1	2	4	3	4	3	3	0	3	2	3	0	5	6			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:179552943C>G	ENST00000589042.1	-	127	32430	c.32206G>C	c.(32206-32208)Gag>Cag	p.E10736Q	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9492Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E10419Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10419	Glu-rich.|Pro-rich.						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)			CATTCCTCCTCTGCAGATACT	0.398													19	190					0	0	0	0	G	179552943	C	G	179552943	3	3	287	1	0	0	0	0	1	0	0	0	16831	922	32	2	72267	2	TTN	2	179552943	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	12658330	179552943	63646430	30	50979											
STAT1	6772	broad.mit.edu	37	chr2	191862724	191862724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaactctattattttgtGaactacttcctaaaggcaat	13	14	5	9	0	1	1	0	1	1	0	2	1	2	1	1	1	4	2	1	1	8	7			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:191862724G>A	ENST00000361099.3	-	9	1030	c.643C>T	c.(643-645)Cac>Tac	p.H215Y	STAT1_ENST00000409465.1_Missense_Mutation_p.H215Y|STAT1_ENST00000540176.1_Missense_Mutation_p.S184L|STAT1_ENST00000392322.3_Missense_Mutation_p.H215Y|STAT1_ENST00000392323.2_Missense_Mutation_p.H217Y	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	215					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ATTATTTTGTGAACTACTTCC	0.328													7	72					0	0	0	0	A	191862724	G	A	191862724	3	1	287	1	0	0	0	0	1	0	0	0	15354	1290	45	2	1681	2	STAT1	2	191862724	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	12309781	191862724	51336649	31	50980											
SPATS2L	26010	broad.mit.edu	37	chr2	201303979	201303979	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagcaagcctaaggcaaaaAcatctcctgttaagtccaat	16	8	6	11	0	1	0	0	0	1	0	3	0	2	0	3	1	3	3	3	1	7	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:201303979A>T	ENST00000409988.3	+	7	1103	c.580A>T	c.(580-582)Aca>Tca	p.T194S	SPATS2L_ENST00000409140.3_Missense_Mutation_p.T194S|SPATS2L_ENST00000409151.1_Missense_Mutation_p.T202S|SPATS2L_ENST00000451764.2_Missense_Mutation_p.T194S|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000409755.3_Missense_Mutation_p.T224S|SPATS2L_ENST00000358677.4_Missense_Mutation_p.T194S|SPATS2L_ENST00000409718.1_Missense_Mutation_p.T194S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.T134S	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	194						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TAAGGCAAAAACATCTCCTGT	0.443													25	21					0	0	0	0	T	201303979	A	T	201303979	3	4	287	1	0	0	0	0	1	0	0	0	15110	43	2	5	598	5	SPATS2L	2	201303979	Missense_Mutation	SNP	A	TCGA-CV-7235-01A-11D-2012-08	9441255	201303979	41895394	32	50981											
VWC2L	402117	broad.mit.edu	37	chr2	215440475	215440475	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtaacatctgtcattgTcacaacggggactggtggaa	12	10	12	7	1	3	0	2	0	1	0	3	3	3	2	0	4	2	1	0	4	4	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:215440475T>C	ENST00000312504.5	+	4	1402	c.600T>C	c.(598-600)tgT>tgC	p.C200C	VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	200						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TCTGTCATTGTCACAACGGGG	0.468													3	163					0	0	0	0	C	215440475	T	C	215440475	2	2	287	1	0	0	0	0	0	0	0	1	17340	1673	58	5		5	VWC2L	2	215440475	Silent	SNP	T	TCGA-CV-7235-01A-11D-2012-08	14136496	215440475	27758898	33	50982											
ANKMY1	51281	broad.mit.edu	37	chr2	241492385	241492385	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagccttctcggtggctgagGtaaaatgtgcccgtgaaact	9	11	12	9	2	1	2	0	2	1	0	2	2	1	2	2	3	3	2	2	3	4	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:241492385G>A	ENST00000391987.1	-	4	525	c.159C>T	c.(157-159)taC>taT	p.Y53Y	ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000536462.1_Silent_p.Y95Y|ANKMY1_ENST00000373318.2_Silent_p.Y142Y|ANKMY1_ENST00000272972.3_Silent_p.Y53Y|ANKMY1_ENST00000406958.1_Silent_p.Y142Y|ANKMY1_ENST00000405523.3_Silent_p.Y142Y|ANKMY1_ENST00000405002.1_Silent_p.Y53Y|ANKMY1_ENST00000403283.1_Silent_p.Y221Y|ANKMY1_ENST00000373320.4_Silent_p.Y53Y|ANKMY1_ENST00000361678.4_Silent_p.Y142Y|ANKMY1_ENST00000401804.1_Silent_p.Y142Y			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	53							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGTGGCTGAGGTAAAATGTGC	0.567													36	56					0	0	0	0	A	241492385	G	A	241492385	2	1	287	1	0	0	0	0	0	0	0	1	634	1256	44	4		4	ANKMY1	2	241492385	Silent	SNP	G	TCGA-CV-7235-01A-11D-2012-08	26051910	241492385	1706988	34	50983											
CMTM8	152189	broad.mit.edu	37	chr3	32398887	32398887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggctgctggtatggaCgcttattgctggaactgagt	6	13	15	7	1	1	1	0	1	1	0	1	3	1	3	0	5	3	5	0	5	3	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr3:32398887C>T	ENST00000307526.3	+	2	464	c.170C>T	c.(169-171)aCg>aTg	p.T57M	CMTM8_ENST00000458535.2_Intron	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	57	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CTGGTATGGACGCTTATTGCT	0.483													22	60					0	0	0	0	T	32398887	C	T	32398887	3	4	287	1	0	0	0	0	1	0	0	0	3619	536	19	1	176	1	CMTM8	3	32398887	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08		32398887	165623543	35	50984											
ADAMTS9	56999	broad.mit.edu	37	chr3	64641512	64641512	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcacaataacaatattaaTtaaatttccaatacttgggt	16	15	4	6	0	1	0	1	0	0	0	2	0	2	0	1	1	2	1	1	1	9	8			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr3:64641512T>G	ENST00000498707.1	-	5	1351	c.1009A>C	c.(1009-1011)Att>Ctt	p.I337L	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.I337L|ADAMTS9_ENST00000295903.4_Intron	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	337	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACAATATTAATTAAATTTCCA	0.294													18	6					0	0	0	0	G	64641512	T	G	64641512	3	3	287	1	0	0	0	0	1	0	0	0	273	1493	52	5	4938	5	ADAMTS9	3	64641512	Missense_Mutation	SNP	T	TCGA-CV-7235-01A-11D-2012-08	32242625	64641512	133380918	36	50985											
ABLIM2	84448	broad.mit.edu	37	chr4	8009911	8009911	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcccccttgagcatcAgccagctgctcttctgctga	6	11	8	16	0	3	2	1	2	2	0	4	2	4	2	3	0	6	5	3	0	0	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:8009911A>G	ENST00000318888.4	-	15	1467	c.596T>C	c.(595-597)cTg>cCg	p.L199P	ABLIM2_ENST00000428004.2_Missense_Mutation_p.L424P|ABLIM2_ENST00000296372.8_Missense_Mutation_p.L465P|ABLIM2_ENST00000341937.5_Missense_Mutation_p.L464P|ABLIM2_ENST00000361737.5_Missense_Mutation_p.L423P|ABLIM2_ENST00000545242.1_Missense_Mutation_p.L464P|ABLIM2_ENST00000407564.3_Missense_Mutation_p.L413P|ABLIM2_ENST00000514025.1_Missense_Mutation_p.L199P|ABLIM2_ENST00000447017.2_Missense_Mutation_p.L498P|ABLIM2_ENST00000546334.1_Missense_Mutation_p.L423P|ABLIM2_ENST00000361581.5_Missense_Mutation_p.L464P|ABLIM2_ENST00000505872.1_Missense_Mutation_p.L412P			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	464	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTTGAGCATCAGCCAGCTGCT	0.527													3	73					0	0	0	0	G	8009911	A	G	8009911	3	3	287	1	0	0	0	0	1	0	0	0	95	188	7	5	485	5	ABLIM2	4	8009911	Missense_Mutation	SNP	A	TCGA-CV-7235-01A-11D-2012-08		8009911	183144365	37	50986											
HERC3	8916	broad.mit.edu	37	chr4	89583677	89583677	+	Silent	SNP	C	C	T																															gcagtttggagacaaaaactCtcagaacacaacaatgcaaa																										TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:89583677C>T	ENST00000402738.1	+	11	1481	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	HERC3_ENST00000264345.3_Silent_p.L414L|HERC3_ENST00000543130.1_Intron	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	414					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GACAAAAACTCTCAGAACACA	0.343													5	32					0	0	0	0	T	89583677	C	T	89583677	2	4	287	1	0	0	0	0	0	0	0	1	7109	900	32	2		2	HERC3	4	89583677	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08	81573766	89583677	101570599	38	50987	402	2									
HERC3	8916	broad.mit.edu	37	chr4	89583679	89583679	+	Missense_Mutation	SNP	C	C	T																															agtttggagacaaaaactctCagaacacaacaatgcaaata																										TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:89583679C>T	ENST00000402738.1	+	11	1483	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	HERC3_ENST00000264345.3_Missense_Mutation_p.S415L|HERC3_ENST00000543130.1_Intron	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	415					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CAAAAACTCTCAGAACACAAC	0.348													5	33					0	0	0	0	T	89583679	C	T	89583679	3	4	287	1	0	0	0	0	1	0	0	0	7109	838	29	2	1278	2	HERC3	4	89583679	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	2	89583679	101570597	39	50988	402	2									
UNC5C	8633	broad.mit.edu	37	chr4	96140364	96140364	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggatccagaattggagaGttggtcattgggattttgtc	9	14	14	4	0	1	2	1	0	0	2	3	5	2	4	1	4	0	1	1	4	1	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:96140364G>C	ENST00000453304.1	-	9	1749	c.1401C>G	c.(1399-1401)aaC>aaG	p.N467K	UNC5C_ENST00000506749.1_Missense_Mutation_p.N486K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	467					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAATTGGAGAGTTGGTCATTG	0.522													56	259					0	0	0	0	C	96140364	G	C	96140364	3	2	287	1	0	0	0	0	1	0	0	0	17089	1020	36	4	1426	4	UNC5C	4	96140364	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	6556685	96140364	95013912	40	50989											
ELOVL6	79071	broad.mit.edu	37	chr4	110980841	110980841	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaaccctggtcacaaacTgactgcttcaggcctttggt	11	11	8	11	0	2	1	2	1	0	0	2	1	2	1	2	3	3	1	2	3	4	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:110980841T>G	ENST00000394607.3	-	4	454	c.291A>C	c.(289-291)tcA>tcC	p.S97S	ELOVL6_ENST00000506461.1_5'UTR|ELOVL6_ENST00000302274.3_Silent_p.S97S			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	97					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GGTCACAAACTGACTGCTTCA	0.413													10	40					0	0	0	0	G	110980841	T	G	110980841	2	3	287	1	0	0	0	0	0	0	0	1	5116	1567	55	5		5	ELOVL6	4	110980841	Silent	SNP	T	TCGA-CV-7235-01A-11D-2012-08	14840477	110980841	80173435	41	50990											
ANK2	287	broad.mit.edu	37	chr4	114095604	114095604	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcttcctccgtgctgcCagagcaggcaacctggacaa	10	6	11	14	1	0	1	0	0	0	1	2	2	2	2	4	2	5	5	4	2	3	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:114095604C>A	ENST00000357077.4	+	2	170	c.117C>A	c.(115-117)gcC>gcA	p.A39A	ANK2_ENST00000264366.6_Silent_p.A39A|ANK2_ENST00000394537.3_Silent_p.A39A|ANK2_ENST00000506722.1_Silent_p.A18A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	39					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCGTGCTGCCAGAGCAGGCA	0.433													6	31					0.000157383	0.000221928	1	0	A	114095604	C	A	114095604	2	1	287	1	0	0	0	0	0	0	0	1	621	581	21	4		4	ANK2	4	114095604	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08	3114763	114095604	77058672	42	50991											
PDE5A	8654	broad.mit.edu	37	chr4	120427082	120427082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagttcaaaaaattctcctCgcctcctacaatgtttaaaa	15	13	3	10	1	2	0	1	0	1	0	5	0	3	0	3	0	1	2	3	0	8	6			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:120427082C>T	ENST00000354960.3	-	17	2514	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q	PDE5A_ENST00000264805.5_Missense_Mutation_p.R690Q|PDE5A_ENST00000394439.1_Missense_Mutation_p.R680Q|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	732	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.G733delG(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAATTCTCCTCGCCTCCTACA	0.318													6	39					0	0	0	0	T	120427082	C	T	120427082	3	4	287	1	0	0	0	0	1	0	0	0	11715	884	31	1	452	1	PDE5A	4	120427082	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	6331478	120427082	70727194	43	50992											
PLEKHG4B	153478	broad.mit.edu	37	chr5	140744	140744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccaccactcagcaggcTccaggcctgggggccaccta	7	5	10	19	0	1	0	1	0	0	0	3	0	3	0	7	4	1	2	7	4	1	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:140744T>C	ENST00000283426.6	+	1	372	c.322T>C	c.(322-324)Tcc>Ccc	p.S108P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	108					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTCAGCAGGCTCCAGGCCTGG	0.647													10	63					0	0	0	0	C	140744	T	C	140744	3	2	287	1	0	0	0	0	1	0	0	0	12144	1551	54	5	324	5	PLEKHG4B	5	140744	Missense_Mutation	SNP	T	TCGA-CV-7235-01A-11D-2012-08		140744	180774516	44	50993											
ADCY2	108	broad.mit.edu	37	chr5	7757570	7757570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttctcctagcaatgcagCaaaaaagcctctcccctgct	10	10	5	16	0	3	0	0	0	3	0	5	0	3	0	4	0	5	4	4	0	5	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:7757570C>A	ENST00000338316.4	+	16	2054	c.1965C>A	c.(1963-1965)agC>agA	p.S655R	ADCY2_ENST00000537121.1_Missense_Mutation_p.S475R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	655					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCAATGCAGCAAAAAAGCCT	0.488													73	98					2.40655e-23	3.82307e-23	1	0	A	7757570	C	A	7757570	3	1	287	1	0	0	0	0	1	0	0	0	294	709	25	4	2027	4	ADCY2	5	7757570	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	7616826	7757570	173157690	45	50994											
SEMA5A	9037	broad.mit.edu	37	chr5	9066619	9066619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagcaaattcggatcaGccaggcgggctttgcatgtg	8	10	12	11	2	1	0	1	0	0	0	3	1	2	1	2	3	3	3	2	3	1	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:9066619G>T	ENST00000382496.5	-	17	2878	c.2213C>A	c.(2212-2214)gCt>gAt	p.A738D		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	738	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATTCGGATCAGCCAGGCGGGC	0.542													32	150					9.78306e-22	1.54437e-21	1	0	T	9066619	G	T	9066619	3	4	287	1	0	0	0	0	1	0	0	0	14124	971	34	4	1039	4	SEMA5A	5	9066619	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	1309049	9066619	171848641	46	50995											
ANKH	56172	broad.mit.edu	37	chr5	14758660	14758660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgctccccaccgactcgtCcacatggtgcagtttattga	7	12	8	14	2	0	1	0	1	0	0	3	2	2	1	4	1	2	3	4	1	1	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:14758660C>T	ENST00000284268.6	-	3	691	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	121					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACCGACTCGTCCACATGGTGC	0.433													12	63					0	0	0	0	T	14758660	C	T	14758660	3	4	287	1	0	0	0	0	1	0	0	0	627	855	30	2	1157	2	ANKH	5	14758660	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	5692041	14758660	166156600	47	50996											
ITGA1	3672	broad.mit.edu	37	chr5	52201636	52201636	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttcttctggagatgtgctCtatattgctggacagcctcg	6	14	11	10	1	3	1	0	0	3	1	4	3	3	2	1	2	3	3	1	2	2	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:52201636C>G	ENST00000282588.6	+	12	1811	c.1353C>G	c.(1351-1353)ctC>ctG	p.L451L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	451					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAGATGTGCTCTATATTGCTG	0.433													14	37					0	0	0	0	G	52201636	C	G	52201636	2	3	287	1	0	0	0	0	0	0	0	1	7925	900	32	2		2	ITGA1	5	52201636	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08	37442976	52201636	128713624	48	50997											
MAST4	375449	broad.mit.edu	37	chr5	66459360	66459360	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccgaggagaagctgtcGccctcttacggcagtgacaa	10	7	12	12	3	1	2	0	1	1	1	3	4	2	2	2	2	2	2	2	2	3	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:66459360G>A	ENST00000404260.3	+	29	4670	c.4362G>A	c.(4360-4362)tcG>tcA	p.S1454S	MAST4_ENST00000403666.1_Silent_p.S1262S|MAST4_ENST00000261569.7_Silent_p.S1257S|MAST4_ENST00000403625.2_Silent_p.S1451S|MAST4_ENST00000405643.1_Silent_p.S1272S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1454						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAGCTGTCGCCCTCTTACG	0.667													10	12					0	0	0	0	A	66459360	G	A	66459360	2	1	287	1	0	0	0	0	0	0	0	1	9396	1074	38	1		1	MAST4	5	66459360	Silent	SNP	G	TCGA-CV-7235-01A-11D-2012-08	14257724	66459360	114455900	49	50998											
TGFBI	7045	broad.mit.edu	37	chr5	135388800	135388801	+	Frame_Shift_Del	DEL	CA	CA	-																															cattgatgagctactcatccCagactcaggtaggccaggcc																										TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:135388800_135388801delCA	ENST00000442011.2	+	8	1279_1280	c.1118_1119delCA	c.(1117-1119)cfs	p.P373fs	TGFBI_ENST00000305126.8_Frame_Shift_Del_p.P373fs	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	373					angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTACTCATCCCAGACTCAGGTA	0.569													11	37	---	---	---	---					-	135388801	CA	-	135388800	7	5	287	1	0	1	0	1	0	0	0	0	15914	594	21	0	1148	0	TGFBI	5	135388800	Frame_Shift_Del	DEL	CA	TCGA-CV-7235-01A-11D-2012-08	68929440	135388800	45526460	50	50999											
ANKHD1	54882	broad.mit.edu	37	chr5	139903729	139903729	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagaaaaaagaaaaaagagGaacagaaaaggaaacaggaa	28	0	11	2	0	0	4	0	0	0	4	0	8	0	7	0	3	2	0	0	3	11	0			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:139903729G>T	ENST00000297183.6	+	25	4520	c.4396G>T	c.(4396-4398)Gaa>Taa	p.E1466*	ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.E1466*|ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.E1466*	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gaaaaaagaggaacagaaaag	0.368													9	14					1.76689e-08	2.56353e-08	1	0	T	139903729	G	T	139903729	4	4	287	1	0	0	0	0	0	1	0	0	628	1175	41	2	4600	2	ANKHD1	5	139903729	Nonsense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	4514929	139903729	41011531	51	51000											
MSX2	4488	broad.mit.edu	37	chr5	174156337	174156337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacctcacagagacccaGgtcaaaatctggttccagaa	14	7	8	12	0	3	3	2	1	1	2	4	4	4	3	3	2	1	1	3	2	4	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:174156337G>T	ENST00000239243.6	+	2	682	c.555G>T	c.(553-555)caG>caT	p.Q185H		NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	185					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGAGACCCAGGTCAAAATCT	0.547													13	58					4.36969e-10	6.56762e-10	1	0	T	174156337	G	T	174156337	3	4	287	1	0	0	0	0	1	0	0	0	9966	991	35	4	561	4	MSX2	5	174156337	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	34252608	174156337	6758923	52	51001											
DSP	1832	broad.mit.edu	37	chr6	7585071	7585071	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagatagaaagacaggcAgtcagtatgatattcaagat	16	10	11	4	0	2	5	2	1	0	4	2	5	2	5	0	2	0	3	0	2	6	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:7585071A>G	ENST00000379802.3	+	24	7917	c.7576A>G	c.(7576-7578)Agt>Ggt	p.S2526G	DSP_ENST00000418664.2_Missense_Mutation_p.S1927G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2526	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGACAGGCAGTCAGTATGA	0.473													24	90					0	0	0	0	G	7585071	A	G	7585071	3	3	287	1	0	0	0	0	1	0	0	0	4817	188	7	5	7670	5	DSP	6	7585071	Missense_Mutation	SNP	A	TCGA-CV-7235-01A-11D-2012-08		7585071	163529996	53	51002											
GCNT2	2651	broad.mit.edu	37	chr6	10529730	10529730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acacctgcgggcaagactttCccctgaaaaccaacagggaa	14	5	9	13	1	0	2	0	1	0	1	1	3	1	3	4	2	3	1	4	2	5	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:10529730C>T	ENST00000379597.3	+	1	1142	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.P196S|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	196						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCAAGACTTTCCCCTGAAAAC	0.532													38	34					0	0	0	0	T	10529730	C	T	10529730	3	4	287	1	0	0	0	0	1	0	0	0	6350	855	30	2	588	2	GCNT2	6	10529730	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	2944659	10529730	160585337	54	51003											
BTN1A1	696	broad.mit.edu	37	chr6	26505323	26505323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcctgatgaagaaggtttgTtcactgtggctgcttcagtg	8	14	12	7	0	2	3	2	2	0	1	3	3	3	3	1	2	1	4	1	2	2	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:26505323T>C	ENST00000244513.6	+	3	664	c.598T>C	c.(598-600)Ttc>Ctc	p.F200L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	200	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGAAGGTTTGTTCACTGTGGC	0.478													12	71					0	0	0	0	C	26505323	T	C	26505323	3	2	287	1	0	0	0	0	1	0	0	0	1568	1725	60	5	608	5	BTN1A1	6	26505323	Missense_Mutation	SNP	T	TCGA-CV-7235-01A-11D-2012-08	15975593	26505323	144609744	55	51004											
PGBD1	84547	broad.mit.edu	37	chr6	28251760	28251760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgctaccaggaggctcacgGaccccaggaagctctggccc	8	5	12	16	1	2	0	1	0	1	0	2	3	2	3	4	5	3	3	4	5	2	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:28251760G>A	ENST00000405948.2	+	2	590	c.170G>A	c.(169-171)gGa>gAa	p.G57E	PGBD1_ENST00000259883.3_Missense_Mutation_p.G57E	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	57	SCAN box.				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAGGCTCACGGACCCCAGGAA	0.587													53	52					0	0	0	0	A	28251760	G	A	28251760	3	1	287	1	0	0	0	0	1	0	0	0	11852	1174	41	2	172	2	PGBD1	6	28251760	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	1746437	28251760	142863307	56	51005											
HLA-G	3135	broad.mit.edu	37	chr6	29796426	29796426	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggattacctcgccctGaacgaggacctgcgctcctg	8	7	12	14	3	0	1	0	1	0	0	2	4	1	3	4	3	3	2	4	3	3	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:29796426G>T	ENST00000428701.1	+	4	628	c.450G>T	c.(448-450)ctG>ctT	p.L150L	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Silent_p.L150L|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376828.2_Silent_p.L155L	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	150	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						ACCTCGCCCTGAACGAGGACC	0.617													22	94					3.8784e-16	6.08425e-16	1	0	T	29796426	G	T	29796426	2	4	287	1	0	0	0	0	0	0	0	1	7262	1277	45	2		2	HLA-G	6	29796426	Silent	SNP	G	TCGA-CV-7235-01A-11D-2012-08	1544666	29796426	141318641	57	51006											
FLOT1	10211	broad.mit.edu	37	chr6	30698343	30698343	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctcagcttccccacgcatCtgagggttaaggatgcttgt	7	11	11	12	1	2	1	1	1	1	0	3	2	3	2	3	2	2	4	3	2	1	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:30698343C>G	ENST00000376389.3	-	11	1172		c.e11-1		FLOT1_ENST00000456573.2_Splice_Site	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1							centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CCCCACGCATCTGAGGGTTAA	0.562													43	183					0	0	0	0	G	30698343	C	G	30698343	5	3	287	1	0	0	0	0	0	0	1	0	5981	927	32	2	344	2	FLOT1	6	30698343	Splice_Site	SNP	C	TCGA-CV-7235-01A-11D-2012-08	901917	30698343	140416724	58	51007											
GRM4	2914	broad.mit.edu	37	chr6	34101096	34101096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcttgccctctgagccccGgccatgcaccgggaacaggc	6	5	14	16	2	1	1	0	1	1	0	1	2	1	2	5	4	4	2	5	4	1	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:34101096G>A	ENST00000374181.3	-	1	347	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Missense_Mutation_p.R60W	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	60					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TCTGAGCCCCGGCCATGCACC	0.597													6	40					0	0	0	0	A	34101096	G	A	34101096	3	1	287	1	0	0	0	0	1	0	0	0	6849	1115	39	1	2600	1	GRM4	6	34101096	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	3402753	34101096	137013971	59	51008											
RPL10A	4736	broad.mit.edu	37	chr6	35436736	35436736	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcgaaggttcctggagacGgtggagttgcagatcagctt	8	11	14	8	2	2	2	1	0	1	2	4	5	3	3	1	4	2	4	1	4	1	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:35436736G>T	ENST00000322203.6	+	3	120	c.93G>T	c.(91-93)acG>acT	p.T31T	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	31					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	p.T31T(1)		breast(1)|large_intestine(2)|ovary(1)	4						TCCTGGAGACGGTGGAGTTGC	0.647													18	19					1.01871e-10	1.54968e-10	1	0	T	35436736	G	T	35436736	2	4	287	1	0	0	0	0	0	0	0	1	13640	1103	39	3		3	RPL10A	6	35436736	Silent	SNP	G	TCGA-CV-7235-01A-11D-2012-08	1335640	35436736	135678331	60	51009											
BRPF3	27154	broad.mit.edu	37	chr6	36175199	36175199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattgagctgattcggaagaGagagaagctcaaacgagagc	15	6	14	6	2	1	5	1	2	0	3	2	10	1	6	0	1	4	2	0	1	3	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:36175199G>A	ENST00000357641.6	+	4	1968	c.1715G>A	c.(1714-1716)aGa>aAa	p.R572K	BRPF3_ENST00000339717.7_Missense_Mutation_p.R572K|BRPF3_ENST00000534400.1_Missense_Mutation_p.R572K|BRPF3_ENST00000534694.1_Missense_Mutation_p.R572K|BRPF3_ENST00000443324.2_Missense_Mutation_p.R572K|BRPF3_ENST00000543502.1_Missense_Mutation_p.R572K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	572					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ATTCGGAAGAGAGAGAAGCTC	0.537													5	35					0	0	0	0	A	36175199	G	A	36175199	3	1	287	1	0	0	0	0	1	0	0	0	1529	942	33	2	1725	2	BRPF3	6	36175199	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	738463	36175199	134939868	61	51010											
LMBRD1	55788	broad.mit.edu	37	chr6	70386390	70386390	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagcagcactgaagaaccaGaacttgtgaaggaataggta	17	7	11	6	0	0	4	0	2	0	2	0	5	0	5	1	2	4	3	1	2	8	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:70386390G>A	ENST00000370577.3	-	15	1690	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	LMBRD1_ENST00000370570.1_Silent_p.F414F	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	487					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TGAAGAACCAGAACTTGTGAA	0.383													4	24					0	0	0	0	A	70386390	G	A	70386390	2	1	287	1	0	0	0	0	0	0	0	1	8897	933	33	2		2	LMBRD1	6	70386390	Silent	SNP	G	TCGA-CV-7235-01A-11D-2012-08	34211191	70386390	100728677	62	51011											
ROS1	6098	broad.mit.edu	37	chr6	117641132	117641132	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttcccagcaagagacgcaGagtcagtttttcccgaggga	11	8	11	11	2	1	2	1	0	0	2	3	5	3	3	2	1	1	3	2	1	1	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:117641132G>C	ENST00000368508.3	-	36	6037	c.5839C>G	c.(5839-5841)Ctg>Gtg	p.L1947V	GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Missense_Mutation_p.L1941V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1947	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAGAGACGCAGAGTCAGTTTT	0.463			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								17	35					0	0	0	0	C	117641132	G	C	117641132	3	2	287	1	0	0	0	0	1	0	0	0	13616	933	33	2	1236	2	ROS1	6	117641132	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	47254742	117641132	53473935	63	51012											
LRP11	84918	broad.mit.edu	37	chr6	150174187	150174187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcagtgcccactcatactgGacgatggcgtggtcatctgt	8	10	12	11	2	3	0	2	0	1	0	3	2	3	1	1	3	3	1	1	3	1	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:150174187G>A	ENST00000239367.2	-	2	728	c.723C>T	c.(721-723)gtC>gtT	p.V241V	LRP11_ENST00000367368.2_Silent_p.V241V|LRP11_ENST00000546019.1_5'UTR	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	241	PKD.					integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		ACTCATACTGGACGATGGCGT	0.562													20	39					0	0	0	0	A	150174187	G	A	150174187	2	1	287	1	0	0	0	0	0	0	0	1	9017	1161	41	2		2	LRP11	6	150174187	Silent	SNP	G	TCGA-CV-7235-01A-11D-2012-08	32533055	150174187	20940880	64	51013											
ZBTB2	57621	broad.mit.edu	37	chr6	151694704	151694704	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcaaccgtgcagtcacaCaggaaaccaaactctcgctg	13	7	8	13	2	2	0	1	0	1	0	3	1	2	1	2	1	5	3	2	1	3	1	rs142578824		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:151694704C>T	ENST00000325144.4	-	2	209	c.69G>A	c.(67-69)ctG>ctA	p.L23L		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TGCAGTCACACAGGAAACCAA	0.388													7	32					0	0	0	0	T	151694704	C	T	151694704	2	4	287	1	0	0	0	0	0	0	0	1	17623	465	17	4		4	ZBTB2	6	151694704	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08	1520517	151694704	19420363	65	51014											
PHF10	55274	broad.mit.edu	37	chr6	170112526	170112526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcatcacctcgaccatcttCgccatcatctgaatcaccat	10	11	3	17	2	6	1	4	1	2	0	8	2	6	1	4	0	0	0	4	0	1	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:170112526C>T	ENST00000339209.4	-	8	1036	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	PHF10_ENST00000366780.4_Missense_Mutation_p.E303K	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	305	Essential to induce neural progenitor proliferation (By similarity).				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CGACCATCTTCGCCATCATCT	0.458													18	57					0	0	0	0	T	170112526	C	T	170112526	3	4	287	1	0	0	0	0	1	0	0	0	11893	893	31	1	603	1	PHF10	6	170112526	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	18417822	170112526	1002541	66	51015											
CYP2W1	54905	broad.mit.edu	37	chr7	1026395	1026395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgtgcccgggggaccccGtgtgcagctatgtggacgcc	5	7	16	13	4	0	0	0	0	0	0	0	2	0	2	4	3	3	2	4	3	1	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:1026395G>A	ENST00000340150.6	+	5	635	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	CYP2W1_ENST00000308919.7_Missense_Mutation_p.V261M			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	261					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGGGGACCCCGTGTGCAGCTA	0.682													7	28					0	0	0	0	A	1026395	G	A	1026395	3	1	287	1	0	0	0	0	1	0	0	0	4208	1145	40	1	799	1	CYP2W1	7	1026395	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08		1026395	158112268	67	51016											
TRA2A	29896	broad.mit.edu	37	chr7	23561386	23561386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaaacccttgatggactaCgagatcctgacctgctctcc	9	10	9	13	1	1	3	0	2	1	1	3	6	2	5	4	2	3	1	4	2	2	2	rs142235949		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:23561386C>T	ENST00000297071.4	-	2	326	c.110G>A	c.(109-111)cGt>cAt	p.R37H	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	37	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TGATGGACTACGAGATCCTGA	0.413													28	44					0	0	0	0	T	23561386	C	T	23561386	3	4	287	1	0	0	0	0	1	0	0	0	16528	536	19	1	766	1	TRA2A	7	23561386	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	22534991	23561386	135577277	68	51017											
PCLO	27445	broad.mit.edu	37	chr7	82545296	82545296	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactattgtacttactaccAagatgggaaacagcaaatgt	17	10	7	7	0	0	1	0	0	0	1	0	2	0	2	1	1	6	2	1	1	8	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:82545296A>G	ENST00000423517.2	-	7	12343	c.12006T>C	c.(12004-12006)ctT>ctC	p.L4002L	PCLO_ENST00000437081.1_Silent_p.L722L|PCLO_ENST00000333891.8_Silent_p.L4002L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3933					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTACTACCAAGATGGGAAA	0.398													141	174					0	0	0	0	G	82545296	A	G	82545296	2	3	287	1	0	0	0	0	0	0	0	1	11654	117	5	5		5	PCLO	7	82545296	Silent	SNP	A	TCGA-CV-7235-01A-11D-2012-08	58983910	82545296	76593367	69	51018											
STEAP2	261729	broad.mit.edu	37	chr7	89854672	89854672	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaatataatatttgttgcTatacacagagaacattatac	18	13	4	6	0	0	1	0	0	0	1	0	2	0	1	0	0	4	2	0	0	9	9			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:89854672T>C	ENST00000287908.3	+	2	669	c.276T>C	c.(274-276)gcT>gcC	p.A92A	STEAP2_ENST00000394632.1_Silent_p.A92A|STEAP2_ENST00000394622.2_Silent_p.A92A|STEAP2_ENST00000394629.2_Silent_p.A92A|STEAP2_ENST00000394621.2_Silent_p.A92A|STEAP2_ENST00000394626.1_Silent_p.A92A|STEAP2_ENST00000402625.2_Silent_p.A92A	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	92					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TATTTGTTGCTATACACAGAG	0.378													55	59					0	0	0	0	C	89854672	T	C	89854672	2	2	287	1	0	0	0	0	0	0	0	1	15368	1509	53	5		5	STEAP2	7	89854672	Silent	SNP	T	TCGA-CV-7235-01A-11D-2012-08	7309376	89854672	69283991	70	51019											
CDK14	5218	broad.mit.edu	37	chr7	90547015	90547015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accttctgatcagtgacacgGgggagttaaagctggcagat	11	9	13	8	1	2	3	1	2	1	1	2	4	2	4	1	3	1	3	1	3	2	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr7:90547015G>T	ENST00000406263.1	+	7	1106	c.664G>T	c.(664-666)Ggg>Tgg	p.G222W	CDK14_ENST00000265741.3_Missense_Mutation_p.G250W|CDK14_ENST00000436577.2_Missense_Mutation_p.G139W|CDK14_ENST00000380050.3_Missense_Mutation_p.G268W			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	268	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	p.G250W(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CAGTGACACGGGGGAGTTAAA	0.443													18	95					2.35188e-11	4.26552e-11	1	0	T	90547015	G	T	90547015	3	4	287	1	0	0	0	0	1	0	0	0	3159	1232	43	4	774	4	CDK14	7	90547015	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	692343	90547015	68591648	71	51020											
SAMD9L	219285	broad.mit.edu	37	chr7	92761382	92761382	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaaaagttctgtgtatttCctgaaacaacgactgacttt	13	13	7	8	1	1	3	0	2	1	1	2	4	2	3	1	0	2	2	1	0	5	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:92761382C>T	ENST00000318238.4	-	5	5119	c.3903G>A	c.(3901-3903)agG>agA	p.R1301R	SAMD9L_ENST00000411955.1_Silent_p.R1301R|SAMD9L_ENST00000437805.1_Silent_p.R1301R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1301										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTGTATTTCCTGAAACAAC	0.343													23	51					0	0	0	0	T	92761382	C	T	92761382	2	4	287	1	0	0	0	0	0	0	0	1	13912	854	30	2		2	SAMD9L	7	92761382	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08	2214367	92761382	66377281	72	51021											
ARPC1B	10095	broad.mit.edu	37	chr7	98984357	98984357	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcatatctatgaaaagagCggtgccaaatggaccaaggt	14	8	12	7	1	1	2	0	1	1	1	1	3	1	3	2	3	3	1	2	3	6	2	rs144704984		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:98984357C>T	ENST00000451682.1	+	5	423	c.114C>T	c.(112-114)agC>agT	p.S38S	ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000252725.5_Silent_p.S38S|ARPC1B_ENST00000474880.1_3'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	38					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAAAAGAGCGGTGCCAAAT	0.572													26	156					0	0	0	0	T	98984357	C	T	98984357	2	4	287	1	0	0	0	0	0	0	0	1	974	767	27	1		1	ARPC1B	7	98984357	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08	6222975	98984357	60154306	73	51022											
ZNF655	79027	broad.mit.edu	37	chr7	99170398	99170398	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgtgggaaaattttccatCagagctcagcccttactaga	12	12	8	9	0	2	2	2	0	0	2	3	3	3	3	2	1	3	1	2	1	5	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:99170398C>G	ENST00000424881.1	+	4	992	c.772C>G	c.(772-774)Cag>Gag	p.Q258E	ZNF655_ENST00000493277.1_Missense_Mutation_p.Q258E|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.Q223E|ZNF655_ENST00000394163.2_Missense_Mutation_p.Q223E	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	223					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AATTTTCCATCAGAGCTCAGC	0.393													5	38					0	0	0	0	G	99170398	C	G	99170398	3	3	287	1	0	0	0	0	1	0	0	0	18163	827	29	2	1204	2	ZNF655	7	99170398	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	186041	99170398	59968265	74	51023											
ZAN	7455	broad.mit.edu	37	chr7	100361512	100361512	+	RNA	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggccagggttctgtggacGgctggtcgacactcatggcc	5	8	17	11	2	2	0	1	0	1	0	3	2	2	1	2	7	0	2	2	7	0	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:100361512G>C	ENST00000542585.1	+	0	4218				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTCTGTGGACGGCTGGTCGAC	0.602													68	79					0	0	0	0	C	100361512	G	C	100361512	1	2	287	0	1	0	0	0	0	0	0	0	17609	1116	39	3		3	ZAN	7	100361512	RNA	SNP	G	TCGA-CV-7235-01A-11D-2012-08	1191114	100361512	58777151	75	51024											
EPHB6	2051	broad.mit.edu	37	chr7	142564288	142564288	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccgggcatccaacagcatCacggtgtcctggccgcagcc	8	5	12	16	3	1	0	1	0	0	0	3	0	3	0	5	3	4	3	5	3	1	0			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:142564288C>T	ENST00000392957.2	+	10	2299	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	EPHB6_ENST00000411471.2_Silent_p.I227I|EPHB6_ENST00000442129.1_Silent_p.I504I	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	504	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCAACAGCATCACGGTGTCCT	0.592													34	46					0	0	0	0	T	142564288	C	T	142564288	2	4	287	1	0	0	0	0	0	0	0	1	5216	816	29	2		2	EPHB6	7	142564288	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08	42202776	142564288	16574375	76	51025											
TEX15	56154	broad.mit.edu	37	chr8	30695359	30695359	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcttcatgctatttaaaTtttcctgttgtccactgaag	8	20	5	8	0	2	1	1	1	1	0	4	1	4	1	2	0	1	2	2	0	4	9			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:30695359T>G	ENST00000256246.2	-	3	7366	c.7292A>C	c.(7291-7293)aAt>aCt	p.N2431T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2431										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTATTTAAATTTTCCTGTTG	0.358													47	121					0	0	0	0	G	30695359	T	G	30695359	3	3	287	1	0	0	0	0	1	0	0	0	15873	1493	52	5	1085	5	TEX15	8	30695359	Missense_Mutation	SNP	T	TCGA-CV-7235-01A-11D-2012-08		30695359	115668663	77	51026											
EYA1	2138	broad.mit.edu	37	chr8	72229804	72229804	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccttgcatctggtagctgTatggtgcctgtccaggttga	6	13	13	9	0	1	1	0	1	1	0	2	2	2	1	3	3	3	5	3	3	2	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:72229804T>C	ENST00000340726.3	-	7	1178	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	EYA1_ENST00000388742.4_Missense_Mutation_p.Y180C|EYA1_ENST00000388740.3_Missense_Mutation_p.Y147C|EYA1_ENST00000388741.2_Missense_Mutation_p.Y146C|EYA1_ENST00000303824.7_Missense_Mutation_p.Y174C|EYA1_ENST00000388743.2_Missense_Mutation_p.Y179C|EYA1_ENST00000419131.1_Missense_Mutation_p.Y175C	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	180					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGGTAGCTGTATGGTGCCTG	0.438													45	94					0	0	0	0	C	72229804	T	C	72229804	3	2	287	1	0	0	0	0	1	0	0	0	5366	1638	57	5	1287	5	EYA1	8	72229804	Missense_Mutation	SNP	T	TCGA-CV-7235-01A-11D-2012-08	41534445	72229804	74134218	78	51027											
WWP1	11059	broad.mit.edu	37	chr8	87454892	87454892	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagttttgaacccaatgtAttgcttatttgagtatgcgg	10	16	10	5	1	0	3	0	3	0	0	0	3	0	3	1	1	3	4	1	1	6	7			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:87454892A>G	ENST00000517970.1	+	18	2190	c.1883A>G	c.(1882-1884)tAt>tGt	p.Y628C	WWP1_ENST00000349423.2_Missense_Mutation_p.Y410C|WWP1_ENST00000265428.4_Missense_Mutation_p.Y628C|WWP1_ENST00000341922.2_Missense_Mutation_p.Y498C	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	628	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AACCCAATGTATTGCTTATTT	0.318													18	36					0	0	0	0	G	87454892	A	G	87454892	3	3	287	1	0	0	0	0	1	0	0	0	17511	449	16	5	1945	5	WWP1	8	87454892	Missense_Mutation	SNP	A	TCGA-CV-7235-01A-11D-2012-08	15225088	87454892	58909130	79	51028											
RUNX1T1	862	broad.mit.edu	37	chr8	92972727	92972727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtttcactcgctttacGgccacaattccagcaactct	9	11	7	14	2	2	0	1	0	1	0	4	0	3	0	2	2	3	4	2	2	3	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr8:92972727G>T	ENST00000523629.1	-	12	2012	c.1558C>A	c.(1558-1560)Cgt>Agt	p.R520S	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R483S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R493S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R483S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R493S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R520S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R531S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R483S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	520					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)			CTCGCTTTACGGCCACAATTC	0.458													22	50					1.50039e-11	2.73821e-11	1	0	T	92972727	G	T	92972727	3	4	287	1	0	0	0	0	1	0	0	0	13832	1116	39	3	260	3	RUNX1T1	8	92972727	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	5517835	92972727	53391295	80	51029											
KIAA1429	25962	broad.mit.edu	37	chr8	95531705	95531705	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgatgactgtgaagatatCtgtggaagagttaattgata	14	13	12	2	0	1	6	0	4	1	2	1	7	1	7	0	1	0	1	0	1	5	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:95531705C>G	ENST00000297591.5	-	9	2097		c.e9-1		KIAA1429_ENST00000437199.1_Splice_Site|KIAA1429_ENST00000421249.2_Splice_Site	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429						mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTGAAGATATCTGTGGAAGAG	0.373													10	57					0	0	0	0	G	95531705	C	G	95531705	5	3	287	1	0	0	0	0	0	0	1	0	8282	927	32	2	3535	2	KIAA1429	8	95531705	Splice_Site	SNP	C	TCGA-CV-7235-01A-11D-2012-08	2558978	95531705	50832317	81	51030											
CSMD3	114788	broad.mit.edu	37	chr8	113599348	113599348	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggctgaaatattgattcCctttcctgcttgaacctgaa	9	15	7	10	0	1	4	0	4	1	0	3	4	3	4	3	1	2	2	3	1	4	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:113599348C>G	ENST00000297405.5	-	23	4076	c.3832G>C	c.(3832-3834)Gga>Cga	p.G1278R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1278R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1238R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1174R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1278	CUB 7.					integral to membrane|plasma membrane		p.G1238*(1)|p.G1278*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATTGATTCCCTTTCCTGCT	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	46					0	0	0	0	G	113599348	C	G	113599348	3	3	287	1	0	0	0	0	1	0	0	0	3978	632	22	4	7487	4	CSMD3	8	113599348	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	18067643	113599348	32764674	82	51031											
SCRIB	23513	broad.mit.edu	37	chr8	144891191	144891191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctctgcgaaatgcaccGtgggctgtgcggacaaaagg	9	7	14	11	4	1	0	0	0	1	0	2	2	2	1	2	3	3	2	2	3	3	0			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:144891191G>A	ENST00000356994.2	-	15	1709	c.1703C>T	c.(1702-1704)aCg>aTg	p.T568M	SCRIB_ENST00000320476.3_Missense_Mutation_p.T568M|SCRIB_ENST00000377533.3_Missense_Mutation_p.T487M	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	568	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GAAATGCACCGTGGGCTGTGC	0.657													18	70					0	0	0	0	A	144891191	G	A	144891191	3	1	287	1	0	0	0	0	1	0	0	0	14024	1145	40	1	3356	1	SCRIB	8	144891191	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	31291843	144891191	1472831	83	51032											
RORB	6096	broad.mit.edu	37	chr9	77286707	77286707	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctttctttcatcagacCgagcctggcttatagaacca	10	12	6	13	1	4	2	2	0	2	2	4	3	4	2	3	1	2	1	3	1	3	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:77286707C>A	ENST00000376896.2	+	9	1726	c.1114C>A	c.(1114-1116)Cga>Aga	p.R372R	RORB_ENST00000396204.2_Silent_p.R383R	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	383	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTCATCAGACCGAGCCTGGCT	0.403													23	19					3.01185e-09	4.44691e-09	1	0	A	77286707	C	A	77286707	2	1	287	1	0	0	0	0	0	0	0	1	13614	644	23	3		3	RORB	9	77286707	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08		77286707	63926724	84	51033											
VPS13A	23230	broad.mit.edu	37	chr9	79917956	79917956	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttccttgttttaatgtaaAtgctcagctgaaaccaatgg	12	14	8	7	0	1	1	1	1	0	0	2	1	2	1	2	1	3	5	2	1	5	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:79917956A>G	ENST00000360280.3	+	34	4198	c.3938A>G	c.(3937-3939)aAt>aGt	p.N1313S	VPS13A_ENST00000376636.3_Missense_Mutation_p.N1274S|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.N1313S|VPS13A_ENST00000376634.4_Missense_Mutation_p.N1313S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1313					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTAATGTAAATGCTCAGCTG	0.378													76	37					0	0	0	0	G	79917956	A	G	79917956	3	3	287	1	0	0	0	0	1	0	0	0	17285	101	4	5	4072	5	VPS13A	9	79917956	Missense_Mutation	SNP	A	TCGA-CV-7235-01A-11D-2012-08	2631249	79917956	61295475	85	51034											
HDHD3	81932	broad.mit.edu	37	chr9	116136605	116136605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtccttcacatcccacgtCagcagtcgtatctgcagccg	7	10	9	15	3	3	0	2	0	1	0	6	0	5	0	3	0	3	3	3	0	1	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:116136605C>T	ENST00000238379.5	-	2	927	c.30G>A	c.(28-30)ctG>ctA	p.L10L	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Silent_p.L10L	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	10							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CATCCCACGTCAGCAGTCGTA	0.657													7	40					0	0	0	0	T	116136605	C	T	116136605	2	4	287	1	0	0	0	0	0	0	0	1	7074	813	29	2		2	HDHD3	9	116136605	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08	36218649	116136605	25076826	86	51035											
COL27A1	85301	broad.mit.edu	37	chr9	117044557	117044557	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtccctcctctctcttcagGgtcctgaaggaaaatcaggg	8	11	10	12	0	4	1	2	1	2	0	8	2	7	2	3	3	0	0	3	3	3	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:117044557G>C	ENST00000356083.3	+	38	4109	c.3717_splice	c.e38-1	p.G1240_splice		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1240	Collagen-like 10.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTCTCTTCAGGGTCCTGAAGG	0.582													70	40					0	0	0	0	C	117044557	G	C	117044557	5	2	287	1	0	0	0	0	0	0	1	0	3715	1246	43	4	3868	4	COL27A1	9	117044557	Splice_Site	SNP	G	TCGA-CV-7235-01A-11D-2012-08	907952	117044557	24168874	87	51036											
TRIM32	22954	broad.mit.edu	37	chr9	119461761	119461761	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttccgctgcattgctggCatgtgtgtggatgctcgtgg	4	14	15	8	2	0	0	0	0	0	0	2	2	1	1	1	3	3	5	1	3	0	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:119461761C>T	ENST00000450136.1	+	2	1901	c.1740C>T	c.(1738-1740)ggC>ggT	p.G580G	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Silent_p.G580G	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	580					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GCATTGCTGGCATGTGTGTGG	0.527													52	28					0	0	0	0	T	119461761	C	T	119461761	2	4	287	1	0	0	0	0	0	0	0	1	16601	697	25	4		4	TRIM32	9	119461761	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08	2417204	119461761	21751670	88	51037											
PIP5KL1	138429	broad.mit.edu	37	chr9	130684360	130684360	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agccggcggttttgggctctCgactcttccgggctctgtgc	2	12	14	13	4	3	0	0	0	3	0	5	1	4	0	2	4	2	3	2	4	0	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:130684360C>G	ENST00000388747.4	-	10	995	c.951G>C	c.(949-951)tcG>tcC	p.S317S	PIP5KL1_ENST00000300432.3_Silent_p.S114S	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	317	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						TTTGGGCTCTCGACTCTTCCG	0.677													2	7					0	0	0	0	G	130684360	C	G	130684360	2	3	287	1	0	0	0	0	0	0	0	1	12014	871	31	3		3	PIP5KL1	9	130684360	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08	11222599	130684360	10529071	89	51038											
ANKRD26	22852	broad.mit.edu	37	chr10	27303483	27303483	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctagatagagttgcttaTatttttccagttcggtttta	8	20	7	6	1	1	2	0	0	1	2	3	2	2	2	1	1	1	4	1	1	5	11			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:27303483T>C	ENST00000376087.4	-	31	4829	c.4664A>G	c.(4663-4665)tAt>tGt	p.Y1555C	ANKRD26_ENST00000376070.3_Missense_Mutation_p.Y1112C|ANKRD26_ENST00000436985.2_Missense_Mutation_p.Y1571C	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1554						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GAGTTGCTTATATTTTTCCAG	0.284													17	13					0	0	0	0	C	27303483	T	C	27303483	3	2	287	1	0	0	0	0	1	0	0	0	654	1406	49	5	484	5	ANKRD26	10	27303483	Missense_Mutation	SNP	T	TCGA-CV-7235-01A-11D-2012-08		27303483	108231264	90	51039											
NRG3	10718	broad.mit.edu	37	chr10	84625186	84625186	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagaccacttggggattgaAttcatgggtaagactaaaca	14	9	11	7	0	1	3	1	1	0	2	1	4	1	4	1	3	1	2	1	3	4	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:84625186A>T	ENST00000372142.2	+	5	658	c.384A>T	c.(382-384)gaA>gaT	p.E128D	NRG3_ENST00000537893.1_5'UTR|NRG3_ENST00000404547.1_Missense_Mutation_p.E349D|NRG3_ENST00000404576.2_Missense_Mutation_p.E153D|NRG3_ENST00000372141.2_Missense_Mutation_p.E349D|NRG3_ENST00000556918.1_Missense_Mutation_p.E179D|NRG3_ENST00000545131.1_5'UTR	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	349	Poly-Thr.|Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGGGGATTGAATTCATGGGTA	0.373													12	50					0	0	0	0	T	84625186	A	T	84625186	3	4	287	1	0	0	0	0	1	0	0	0	10720	98	4	5	1229	5	NRG3	10	84625186	Missense_Mutation	SNP	A	TCGA-CV-7235-01A-11D-2012-08	57321703	84625186	50909561	91	51040											
CDHR1	92211	broad.mit.edu	37	chr10	85972970	85972970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctcaagaattccatcCgctccctggatgccctgcac	7	10	8	16	1	2	1	1	0	1	1	5	2	5	2	4	2	2	3	4	2	2	1	rs148280890	byFrequency	TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:85972970C>T	ENST00000372117.3	+	16	2009	c.1906C>T	c.(1906-1908)Cgc>Tgc	p.R636C	CDHR1_ENST00000440770.2_Missense_Mutation_p.R340C|CDHR1_ENST00000332904.3_Missense_Mutation_p.R636C	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	636	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GAATTCCATCCGCTCCCTGGA	0.587													25	74					0	0	0	0	T	85972970	C	T	85972970	3	4	287	1	0	0	0	0	1	0	0	0	3147	652	23	1	1968	1	CDHR1	10	85972970	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	1347784	85972970	49561777	92	51041											
DMBT1	1755	broad.mit.edu	37	chr10	124402660	124402660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgagggatgacacctacGgaccctactcctcgccatct	8	8	10	15	3	1	2	0	2	1	0	3	4	2	4	4	2	2	0	4	2	2	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:124402660G>A	ENST00000338354.3	+	53	7094	c.6988G>A	c.(6988-6990)Gga>Aga	p.G2330R	DMBT1_ENST00000344338.3_Missense_Mutation_p.G2320R|DMBT1_ENST00000359586.6_Missense_Mutation_p.G1050R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1702R|DMBT1_ENST00000368955.3_Missense_Mutation_p.G2320R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1702R|DMBT1_ENST00000368909.3_Missense_Mutation_p.G2330R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2330	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGACACCTACGGACCCTACTC	0.552													16	89					0	0	0	0	A	124402660	G	A	124402660	3	1	287	1	0	0	0	0	1	0	0	0	4614	1117	39	1	7198	1	DMBT1	10	124402660	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	38429690	124402660	11132087	93	51042											
ELP4	26610	broad.mit.edu	37	chr11	31616423	31616423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagatgaaaatagcttggcGttaccagttattacccaaga	15	11	8	7	1	0	3	0	1	0	2	0	3	0	3	2	1	3	3	2	1	8	6			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:31616423G>A	ENST00000395934.2	+	4	495	c.488G>A	c.(487-489)cGt>cAt	p.R163H	ELP4_ENST00000379163.5_Missense_Mutation_p.R163H|ELP4_ENST00000350638.5_Missense_Mutation_p.R163H			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	163					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					ATAGCTTGGCGTTACCAGTTA	0.318													6	22					0	0	0	0	A	31616423	G	A	31616423	3	1	287	1	0	0	0	0	1	0	0	0	5120	1145	40	1	502	1	ELP4	11	31616423	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08		31616423	103390093	94	51043											
OR5T2	219464	broad.mit.edu	37	chr11	55999656	55999656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttttcattgagtcttttaCatctttgttcctcaaactgt	7	22	4	8	0	4	1	2	1	2	0	5	1	5	1	1	0	2	1	1	0	2	8			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:55999656C>A	ENST00000313264.4	-	1	1081	c.1006G>T	c.(1006-1008)Gta>Tta	p.V336L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	336					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAGTCTTTTACATCTTTGTTC	0.328													17	49					1.5739e-10	2.37981e-10	1	0	A	55999656	C	A	55999656	3	1	287	1	0	0	0	0	1	0	0	0	11253	478	17	4	72	4	OR5T2	11	55999656	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	24383233	55999656	79006860	95	51044											
NXF1	10482	broad.mit.edu	37	chr11	62564806	62564806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccttgcagggcggtaacGtcgtgggggcttcaacatca	8	9	13	11	3	2	0	2	0	0	0	3	0	2	0	1	4	4	3	1	4	3	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:62564806G>A	ENST00000532297.1	-	13	1735	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M	NXF1_ENST00000294172.2_Missense_Mutation_p.T369M|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	369	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGCGGTAACGTCGTGGGGGC	0.498													12	76					0	0	0	0	A	62564806	G	A	62564806	3	1	287	1	0	0	0	0	1	0	0	0	10853	1145	40	1	793	1	NXF1	11	62564806	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	6565150	62564806	72441710	96	51045											
MAP4K2	5871	broad.mit.edu	37	chr11	64563761	64563761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacctggggatgatgcgctGggtgaggcggttggtgggga	5	9	22	5	2	0	3	0	3	0	0	0	5	0	5	1	8	1	2	1	8	0	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:64563761G>T	ENST00000294066.2	-	24	1826	c.1735C>A	c.(1735-1737)Cag>Aag	p.Q579K	MAP4K2_ENST00000377350.3_Missense_Mutation_p.Q571K	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	579	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						ATGATGCGCTGGGTGAGGCGG	0.642													18	44					9.16793e-09	1.3457e-08	1	0	T	64563761	G	T	64563761	3	4	287	1	0	0	0	0	1	0	0	0	9329	1357	47	4	763	4	MAP4K2	11	64563761	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	1998955	64563761	70442755	97	51046											
PACS1	55690	broad.mit.edu	37	chr11	65960978	65960978	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctattcagcttgaccctgaaGaaactcgtcatgctaaaaga	14	10	7	10	1	2	4	2	2	0	2	3	4	2	4	1	0	3	2	1	0	5	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:65960978G>C	ENST00000320580.4	+	2	411	c.378G>C	c.(376-378)aaG>aaC	p.K126N		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	126					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGACCCTGAAGAAACTCGTCA	0.458													7	27					0	0	0	0	C	65960978	G	C	65960978	3	2	287	1	0	0	0	0	1	0	0	0	11443	933	33	2	384	2	PACS1	11	65960978	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	1397217	65960978	69045538	98	51047											
SHANK2	22941	broad.mit.edu	37	chr11	70333123	70333123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcctcctggcttccagcCgcttctcacggtcgcggacg	4	10	11	16	5	1	0	1	0	1	0	6	1	4	1	4	3	1	3	4	3	0	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:70333123C>T	ENST00000338508.4	-	32	3277	c.3278G>A	c.(3277-3279)cGg>cAg	p.R1093Q	SHANK2_ENST00000423696.2_Missense_Mutation_p.R713Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R496Q|SHANK2_ENST00000449833.2_Missense_Mutation_p.R497Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	713					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGCTTCCAGCCGCTTCTCACG	0.721													13	347					0	0	0	0	T	70333123	C	T	70333123	3	4	287	1	0	0	0	0	1	0	0	0	14353	652	23	1	2282	1	SHANK2	11	70333123	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	4372145	70333123	64673393	99	51048											
MMP1	4312	broad.mit.edu	37	chr11	102666294	102666294	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtagaatgggagagtccaaGagaatggccgagttcatgag	14	7	15	5	1	1	4	1	1	0	3	2	7	2	4	2	2	0	2	2	2	4	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:102666294G>C	ENST00000315274.6	-	5	737	c.670C>G	c.(670-672)Ctt>Gtt	p.L224V	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	224	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GAGAGTCCAAGAGAATGGCCG	0.423													26	338					0	0	0	0	C	102666294	G	C	102666294	3	2	287	1	0	0	0	0	1	0	0	0	9717	942	33	2	763	2	MMP1	11	102666294	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	32333171	102666294	32340222	100	51049											
BCL9L	283149	broad.mit.edu	37	chr11	118773004	118773004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcacttcatgctccagcGgggggccccctaggctctgt	5	8	13	15	1	2	0	1	0	1	0	3	0	3	0	3	5	2	3	3	5	1	2	rs147951163	byFrequency	TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:118773004G>A	ENST00000334801.3	-	6	2412	c.1448C>T	c.(1447-1449)cCg>cTg	p.P483L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	483	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCTCCAGCGGGGGGCCCCC	0.642													84	81					0	0	0	0	A	118773004	G	A	118773004	3	1	287	1	0	0	0	0	1	0	0	0	1386	1116	39	1	3063	1	BCL9L	11	118773004	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	16106710	118773004	16233512	101	51050											
CCDC15	80071	broad.mit.edu	37	chr11	124908334	124908334	+	Frame_Shift_Del	DEL	A	A	-																															attttattttcagaattaagAaaaagagagagcaagaatgt																										TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:124908334delA	ENST00000529051.1	+	14	2678	c.2419delA	c.(2419-2421)aafs	p.K808fs	CCDC15_ENST00000344762.5_Frame_Shift_Del_p.K808fs|CCDC15_ENST00000530061.1_3'UTR			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	808						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CAGAATTAAGAAAAAGAGAGA	0.313													2	4	---	---	---	---					-	124908334	A	-	124908334	7	5	287	1	0	1	0	1	0	0	0	0	2809	247	9	0	2469	0	CCDC15	11	124908334	Frame_Shift_Del	DEL	A	TCGA-CV-7235-01A-11D-2012-08	6135330	124908334	10098182	102	51051											
CLEC4E	26253	broad.mit.edu	37	chr12	8693386	8693386	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttcagatgatttagatGaattcattttttctctctct	8	21	6	6	0	4	4	2	2	2	2	6	4	4	4	0	0	0	1	0	0	2	7			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:8693386G>T	ENST00000299663.3	-	1	173	c.8C>A	c.(7-9)tCa>tAa	p.S3*	CLEC4E_ENST00000545274.1_Nonsense_Mutation_p.S3*|CLEC4E_ENST00000446457.2_Nonsense_Mutation_p.S3*	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	3						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGATTTAGATGAATTCATTTT	0.363													12	43					0.00185496	0.00260109	1	0	T	8693386	G	T	8693386	4	4	287	1	0	0	0	0	0	1	0	0	3545	1294	45	2	675	2	CLEC4E	12	8693386	Nonsense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08		8693386	125158509	103	51052											
PRB2	653247	broad.mit.edu	37	chr12	11546907	11546907	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggggtgctccttgtggAtttcctggagaacaaagaga	9	11	15	6	0	0	2	0	0	0	2	2	5	2	3	2	4	2	1	2	4	2	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:11546907A>C	ENST00000389362.4	-	3	140	c.105T>G	c.(103-105)aaT>aaG	p.N35K	PRB2_ENST00000545829.1_5'UTR|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTCCTTGTGGATTTCCTGGAG	0.488													46	97					0	0	0	0	C	11546907	A	C	11546907	3	2	287	1	0	0	0	0	1	0	0	0	12523	330	12	5	1149	5	PRB2	12	11546907	Missense_Mutation	SNP	A	TCGA-CV-7235-01A-11D-2012-08	2853521	11546907	122304988	104	51053											
MANSC1	54682	broad.mit.edu	37	chr12	12483163	12483163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactgccctgggaggaactgCctggactggcctccctacct	6	8	11	16	0	0	0	0	0	0	0	1	3	1	3	5	4	4	0	5	4	2	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:12483163C>A	ENST00000535902.1	-	4	1657	c.1094G>T	c.(1093-1095)gGc>gTc	p.G365V	MANSC1_ENST00000396349.3_Missense_Mutation_p.G331V|MANSC1_ENST00000545735.1_Missense_Mutation_p.G284V			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	365						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GGAGGAACTGCCTGGACTGGC	0.488													18	48					1.99824e-07	2.88251e-07	1	0	A	12483163	C	A	12483163	3	1	287	1	0	0	0	0	1	0	0	0	9293	739	26	4	205	4	MANSC1	12	12483163	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	936256	12483163	121368732	105	51054											
GSG1	83445	broad.mit.edu	37	chr12	13243618	13243618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccagacctttctcgcacagGggcttgggcaccttctgtgt	5	11	12	13	1	2	1	0	0	2	1	3	1	2	1	3	3	0	3	3	3	0	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:13243618G>A	ENST00000337630.6	-	2	211	c.144C>T	c.(142-144)ccC>ccT	p.P48P	GSG1_ENST00000396302.3_Silent_p.P48P|GSG1_ENST00000537302.1_Silent_p.P48P|GSG1_ENST00000324458.8_Silent_p.P61P|GSG1_ENST00000351606.6_Silent_p.P61P|GSG1_ENST00000432710.2_Silent_p.P61P|GSG1_ENST00000457134.2_Silent_p.P48P|GSG1_ENST00000396310.2_Silent_p.P45P	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	48						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TCTCGCACAGGGGCTTGGGCA	0.542													25	69					0	0	0	0	A	13243618	G	A	13243618	2	1	287	1	0	0	0	0	0	0	0	1	6870	1219	43	4		4	GSG1	12	13243618	Silent	SNP	G	TCGA-CV-7235-01A-11D-2012-08	760455	13243618	120608277	106	51055											
PFKM	5213	broad.mit.edu	37	chr12	48526750	48526750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcgtgggatcaccaatCtctgtgtcattgggggtgat	8	12	14	7	1	3	2	2	2	1	0	4	3	3	3	1	3	1	0	1	3	2	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:48526750C>A	ENST00000340802.6	+	7	774	c.550C>A	c.(550-552)Ctc>Atc	p.L184I	PFKM_ENST00000312352.7_Missense_Mutation_p.L113I|PFKM_ENST00000395233.2_Missense_Mutation_p.L113I|PFKM_ENST00000359794.5_Missense_Mutation_p.L113I|PFKM_ENST00000547587.1_Missense_Mutation_p.L113I|PFKM_ENST00000551804.1_Missense_Mutation_p.L113I	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	113					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GATCACCAATCTCTGTGTCAT	0.567													14	60					0.00244969	0.00341596	1	0	A	48526750	C	A	48526750	3	1	287	1	0	0	0	0	1	0	0	0	11837	913	32	2	572	2	PFKM	12	48526750	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	35283132	48526750	85325145	107	51056											
NACA	4666	broad.mit.edu	37	chr12	57111028	57111028	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggggagtgagatctcctttgGatggggtggctgcgccttct	4	12	17	8	1	2	1	0	1	2	1	3	4	2	3	2	6	1	1	2	6	0	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:57111028G>C	ENST00000454682.1	-	3	4567	c.4286C>G	c.(4285-4287)tCc>tGc	p.S1429C	NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATCTCCTTTGGATGGGGTGGC	0.592			T	BCL6	NHL								4	37					0	0	0	0	C	57111028	G	C	57111028	3	2	287	1	0	0	0	0	1	0	0	0	10203	1174	41	2	1978	2	NACA	12	57111028	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	8584278	57111028	76740867	108	51057											
HSD17B6	8630	broad.mit.edu	37	chr12	57167654	57167654	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actatgtggctctacctggcGgccttcgtgggcctgtacta	5	12	12	12	2	1	0	0	0	1	0	2	0	1	0	3	4	2	2	3	4	4	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:57167654G>A	ENST00000554643.1	+	3	367	c.18G>A	c.(16-18)gcG>gcA	p.A6A	HSD17B6_ENST00000555805.1_Silent_p.A6A|HSD17B6_ENST00000554150.1_Silent_p.A6A|HSD17B6_ENST00000322165.1_Silent_p.A6A|HSD17B6_ENST00000555159.1_Silent_p.A6A			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	6					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TCTACCTGGCGGCCTTCGTGG	0.463													14	65					0	0	0	0	A	57167654	G	A	57167654	2	1	287	1	0	0	0	0	0	0	0	1	7437	1103	39	1		1	HSD17B6	12	57167654	Silent	SNP	G	TCGA-CV-7235-01A-11D-2012-08	56626	57167654	76684241	109	51058											
LRP1	4035	broad.mit.edu	37	chr12	57560805	57560805	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgacgactgtggggacCgctctgatgagtctgcttcg	6	11	15	9	3	2	3	0	3	2	0	3	6	2	5	1	3	1	2	1	3	0	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:57560805C>G	ENST00000243077.3	+	18	3356	c.2890C>G	c.(2890-2892)Cgc>Ggc	p.R964G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	964	LDL-receptor class A 5.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGTGGGGACCGCTCTGATGA	0.657													20	87					0	0	0	0	G	57560805	C	G	57560805	3	3	287	1	0	0	0	0	1	0	0	0	9015	652	23	3	2960	3	LRP1	12	57560805	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	393151	57560805	76291090	110	51059											
WIF1	11197	broad.mit.edu	37	chr12	65461539	65461539	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgtctttcattacaaaaGcctccatttcggcacccgcc	9	11	6	15	3	2	0	1	0	1	0	4	0	3	0	4	1	3	1	4	1	3	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:65461539G>C	ENST00000286574.4	-	5	944	c.570C>G	c.(568-570)ggC>ggG	p.G190G		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	190	EGF-like 1.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CATTACAAAAGCCTCCATTTC	0.507			T	HMGA2	pleomorphic salivary gland adenoma								9	26					0	0	0	0	C	65461539	G	C	65461539	2	2	287	1	0	0	0	0	0	0	0	1	17462	958	34	4		4	WIF1	12	65461539	Silent	SNP	G	TCGA-CV-7235-01A-11D-2012-08	7900734	65461539	68390356	111	51060											
GNPTAB	79158	broad.mit.edu	37	chr12	102159938	102159938	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtcacagaacttatcagCgagccaggaattcgcacatc	12	9	9	11	2	2	1	2	0	0	1	4	3	2	2	1	2	3	1	1	2	3	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:102159938C>G	ENST00000299314.7	-	12	1805	c.1543G>C	c.(1543-1545)Gct>Cct	p.A515P		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	515					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AACTTATCAGCGAGCCAGGAA	0.483													31	114					0	0	0	0	G	102159938	C	G	102159938	3	3	287	1	0	0	0	0	1	0	0	0	6596	768	27	3	2267	3	GNPTAB	12	102159938	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	36698399	102159938	31691957	112	51061											
STAB2	55576	broad.mit.edu	37	chr12	104063402	104063402	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccatgctcaggaaatggAcaggtgaatactgaagactg	15	8	11	7	0	1	3	1	2	0	1	2	5	2	5	1	3	2	1	1	3	5	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:104063402A>G	ENST00000388887.2	+	21	2460	c.2256A>G	c.(2254-2256)ggA>ggG	p.G752G		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	752	EGF-like 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGAAATGGACAGGTGAATA	0.413													13	67					0	0	0	0	G	104063402	A	G	104063402	2	3	287	1	0	0	0	0	0	0	0	1	15328	262	10	5		5	STAB2	12	104063402	Silent	SNP	A	TCGA-CV-7235-01A-11D-2012-08	1903464	104063402	29788493	113	51062											
SVOP	55530	broad.mit.edu	37	chr12	109328032	109328032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaactaacccgtagtaagaGaatgcattggaaaacctgcc	16	7	9	9	1	0	2	0	0	0	2	0	4	0	3	3	1	5	3	3	1	7	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:109328032G>C	ENST00000299134.5	-	9	790	c.791C>G	c.(790-792)tCt>tGt	p.S264C		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						CGTAGTAAGAGAATGCATTGG	0.493													4	10					0	0	0	0	C	109328032	G	C	109328032	3	2	287	1	0	0	0	0	1	0	0	0	15513	933	33	2	683	2	SVOP	12	109328032	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	5264630	109328032	24523863	114	51063											
ATXN2	6311	broad.mit.edu	37	chr12	111926424	111926424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaaatgctggggctattcGgcttgctgctgccactggta	6	11	15	9	1	0	0	0	0	0	0	1	1	0	1	1	5	4	6	1	5	3	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:111926424G>A	ENST00000377617.3	-	15	2737	c.2576C>T	c.(2575-2577)cCg>cTg	p.P859L	ATXN2_ENST00000389153.4_Missense_Mutation_p.P594L|ATXN2_ENST00000550104.1_Missense_Mutation_p.P859L|ATXN2_ENST00000542287.2_Missense_Mutation_p.P594L|ATXN2_ENST00000535949.1_Missense_Mutation_p.P570L	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	859					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GGGGCTATTCGGCTTGCTGCT	0.463													12	30					0	0	0	0	A	111926424	G	A	111926424	3	1	287	1	0	0	0	0	1	0	0	0	1215	1116	39	1	1409	1	ATXN2	12	111926424	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	2598392	111926424	21925471	115	51064											
PUS1	80324	broad.mit.edu	37	chr12	132425944	132425944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcacaaggaccgggacgttCaggatgagacctaccgcctg	10	5	13	13	4	1	1	1	1	0	1	1	5	1	4	4	3	1	2	4	3	2	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:132425944C>G	ENST00000542167.2	+	4	1246	c.493C>G	c.(493-495)Cag>Gag	p.Q165E	PUS1_ENST00000440818.2_Missense_Mutation_p.Q190E|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000376649.3_Missense_Mutation_p.Q218E|PUS1_ENST00000443358.2_Missense_Mutation_p.Q190E			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	218						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCGGGACGTTCAGGATGAGAC	0.592													8	48					0	0	0	0	G	132425944	C	G	132425944	3	3	287	1	0	0	0	0	1	0	0	0	12912	827	29	2	670	2	PUS1	12	132425944	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	20499520	132425944	1425951	116	51065											
LIG4	3981	broad.mit.edu	37	chr13	108862659	108862659	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatttgtatatctgcttTgaatgcattatgaatgaatg	13	16	8	4	0	1	4	0	3	1	1	1	4	1	4	0	0	2	3	0	0	6	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr13:108862659T>G	ENST00000356922.4	-	2	1230	c.958A>C	c.(958-960)Aaa>Caa	p.K320Q	LIG4_ENST00000405925.1_Missense_Mutation_p.K320Q|LIG4_ENST00000442234.1_Missense_Mutation_p.K320Q	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	320					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATATCTGCTTTGAATGCATTA	0.338								Non-homologous end-joining					35	30					0	0	0	0	G	108862659	T	G	108862659	3	3	287	1	0	0	0	0	1	0	0	0	8837	1821	63	5	1781	5	LIG4	13	108862659	Missense_Mutation	SNP	T	TCGA-CV-7235-01A-11D-2012-08		108862659	6307219	117	51066											
ARHGEF7	8874	broad.mit.edu	37	chr13	111953845	111953845	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtcttgtggataccgtatAtgcattaaaggatgaagttc	12	13	11	5	1	1	1	0	1	1	0	2	4	1	3	1	2	2	3	1	2	6	6			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr13:111953845A>G	ENST00000218789.5	+	20	2458	c.1961A>G	c.(1960-1962)tAt>tGt	p.Y654C	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y680C|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y595C|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y670C|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y595C			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	418					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GATACCGTATATGCATTAAAG	0.368													39	37					0	0	0	0	G	111953845	A	G	111953845	3	3	287	1	0	0	0	0	1	0	0	0	913	449	16	5	2619	5	ARHGEF7	13	111953845	Missense_Mutation	SNP	A	TCGA-CV-7235-01A-11D-2012-08	3091186	111953845	3216033	118	51067											
LRP10	26020	broad.mit.edu	37	chr14	23346653	23346653	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagtcctggccctggaaGatgaggacgatgtgctactg	9	8	14	10	1	0	2	0	1	0	1	1	5	1	4	2	3	3	2	2	3	2	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr14:23346653G>C	ENST00000359591.4	+	7	2750	c.2059G>C	c.(2059-2061)Gat>Cat	p.D687H	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_3'UTR	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	687					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GGCCCTGGAAGATGAGGACGA	0.682													12	46					0	0	0	0	C	23346653	G	C	23346653	3	2	287	1	0	0	0	0	1	0	0	0	9016	942	33	2	2085	2	LRP10	14	23346653	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08		23346653	84002887	119	51068											
COCH	1690	broad.mit.edu	37	chr14	31346874	31346874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgccctcttgaggaattctCtgtgtatgggaacatagtat	9	14	10	8	0	2	1	0	1	2	0	3	3	2	3	1	2	2	2	1	2	5	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr14:31346874C>G	ENST00000396618.3	+	4	235	c.179C>G	c.(178-180)tCt>tGt	p.S60C	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Missense_Mutation_p.S60C|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000216361.4_Missense_Mutation_p.S60C	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	60	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GAGGAATTCTCTGTGTATGGG	0.507													9	34					0	0	0	0	G	31346874	C	G	31346874	3	3	287	1	0	0	0	0	1	0	0	0	3686	913	32	2	189	2	COCH	14	31346874	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	8000221	31346874	76002666	120	51069											
GPHN	10243	broad.mit.edu	37	chr14	67390956	67390956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttgtcatggcacacggtGaacagcccatccctggtctc	7	10	10	14	1	2	1	1	1	1	0	4	1	3	1	2	3	2	2	2	3	1	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr14:67390956G>A	ENST00000478722.1	+	8	1896	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	GPHN_ENST00000305960.9_Intron|GPHN_ENST00000543237.1_Intron|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Intron|GPHN_ENST00000459628.1_Missense_Mutation_p.E241K	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	243	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GGCACACGGTGAACAGCCCAT	0.398			T	MLL	AL								9	43					0	0	0	0	A	67390956	G	A	67390956	3	1	287	1	0	0	0	0	1	0	0	0	6659	1291	45	2	805	2	GPHN	14	67390956	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	36044082	67390956	39958584	121	51070											
AHNAK2	113146	broad.mit.edu	37	chr14	105415341	105415341	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcattttgaacttgctgtcTttggtagtcaggtccttgtt	5	18	11	7	0	2	1	1	1	1	0	3	1	3	1	1	3	2	4	1	3	2	7			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr14:105415341T>A	ENST00000333244.5	-	7	6566	c.6447A>T	c.(6445-6447)aaA>aaT	p.K2149N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2149						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACTTGCTGTCTTTGGTAGTCA	0.592													206	627					0	0	0	0	A	105415341	T	A	105415341	3	1	287	1	0	0	0	0	1	0	0	0	415	1606	56	5	10944	5	AHNAK2	14	105415341	Missense_Mutation	SNP	T	TCGA-CV-7235-01A-11D-2012-08	38024385	105415341	1934199	122	51071											
NIPA2	81614	broad.mit.edu	37	chr15	23006379	23006379	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcgaaaagacacaggcaGacttgctagactaaagctga	15	9	9	8	1	0	4	0	1	0	3	1	5	0	4	0	1	2	3	0	1	5	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:23006379G>A	ENST00000337451.3	-	8	1537	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	NIPA2_ENST00000539711.2_Silent_p.L290L|NIPA2_ENST00000359727.4_Silent_p.L290L|NIPA2_ENST00000398014.2_Silent_p.L309L|NIPA2_ENST00000398013.3_Silent_p.L309L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	309						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GACACAGGCAGACTTGCTAGA	0.373													20	30					0	0	0	0	A	23006379	G	A	23006379	2	1	287	1	0	0	0	0	0	0	0	1	10493	933	33	2		2	NIPA2	15	23006379	Silent	SNP	G	TCGA-CV-7235-01A-11D-2012-08		23006379	79525013	123	51072											
SEMA6D	80031	broad.mit.edu	37	chr15	48060874	48060874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagacctaaactgacaagctCtcggaaatttgtagttcaag	14	10	9	8	1	2	2	1	1	1	1	3	4	2	3	1	1	2	3	1	1	6	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:48060874C>G	ENST00000316364.5	+	18	2301	c.1862C>G	c.(1861-1863)tCt>tGt	p.S621C	SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S602C|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S621C|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000537942.1_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	621					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTGACAAGCTCTCGGAAATTT	0.428													35	55					0	0	0	0	G	48060874	C	G	48060874	3	3	287	1	0	0	0	0	1	0	0	0	14129	913	32	2	1971	2	SEMA6D	15	48060874	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	25054495	48060874	54470518	124	51073											
LIPC	3990	broad.mit.edu	37	chr15	58840724	58840724	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgccaggagccgcggagcaAgagcaagaggctcttcctcg	9	4	14	14	4	1	2	0	0	1	2	3	4	2	4	4	3	3	3	4	3	2	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:58840724A>G	ENST00000414170.3	+	7	1291	c.1004A>G	c.(1003-1005)aAg>aGg	p.K335R	LIPC_ENST00000433326.2_Missense_Mutation_p.K274R|LIPC_ENST00000299022.5_Missense_Mutation_p.K335R|LIPC_ENST00000356113.6_Missense_Mutation_p.K335R			P11150	LIPC_HUMAN	lipase, hepatic	335					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CCGCGGAGCAAGAGCAAGAGG	0.627													8	17					0	0	0	0	G	58840724	A	G	58840724	3	3	287	1	0	0	0	0	1	0	0	0	8875	72	3	5	1026	5	LIPC	15	58840724	Missense_Mutation	SNP	A	TCGA-CV-7235-01A-11D-2012-08	10779850	58840724	43690668	125	51074											
CELF6	60677	broad.mit.edu	37	chr15	72608204	72608204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccctggcagggtcttctgCtcgtgcagtgcactctgggc	4	10	13	14	1	3	0	0	0	3	0	4	0	3	0	2	3	3	4	2	3	0	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr15:72608204C>T	ENST00000287202.5	-	2	581	c.327G>A	c.(325-327)gaG>gaA	p.E109E	CELF6_ENST00000539635.1_5'UTR|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Silent_p.E109E	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	109	RRM 1.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						GGGTCTTCTGCTCGTGCAGTG	0.632													3	12					0	0	0	0	T	72608204	C	T	72608204	2	4	287	1	0	0	0	0	0	0	0	1	3249	796	28	4		4	CELF6	15	72608204	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08	13767480	72608204	29923188	126	51075											
STOML1	9399	broad.mit.edu	37	chr15	74284510	74284510	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagccgaagctcgactgctGgaagcggtcaaaatcaccca	14	5	10	12	3	2	0	2	0	0	0	3	3	2	1	2	2	4	2	2	2	5	0			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:74284510G>A	ENST00000316900.5	-	1	179	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	STOML1_ENST00000359750.4_Nonsense_Mutation_p.Q19*|STOML1_ENST00000316911.6_Nonsense_Mutation_p.Q19*|STOML1_ENST00000541638.1_5'UTR|STOML1_ENST00000564777.1_Nonsense_Mutation_p.Q19*|STOML1_ENST00000561656.1_Intron	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	19						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CTCGACTGCTGGAAGCGGTCA	0.716													7	55					0	0	0	0	A	74284510	G	A	74284510	4	1	287	1	0	0	0	0	0	1	0	0	15403	1357	47	4	1169	4	STOML1	15	74284510	Nonsense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	1676306	74284510	28246882	127	51076											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059275	79059275	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggggccaccgacagAgtggcagagagcaggtgact	10	4	16	11	1	0	3	0	1	0	2	0	5	0	3	3	4	2	2	3	4	0	0			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:79059275A>G	ENST00000388820.4	-	19	3188	c.2978T>C	c.(2977-2979)cTc>cCc	p.L993P	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	993	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCACCGACAGAGTGGCAGAGA	0.652													3	68					0	0	0	0	G	79059275	A	G	79059275	3	3	287	1	0	0	0	0	1	0	0	0	271	304	11	5	2106	5	ADAMTS7	15	79059275	Missense_Mutation	SNP	A	TCGA-CV-7235-01A-11D-2012-08	4774765	79059275	23472117	128	51077											
UBN1	29855	broad.mit.edu	37	chr16	4903155	4903155	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggtaaaaggccttcaGcctggagataaggtacaccc	13	6	13	9	0	1	1	1	0	0	1	1	3	1	2	3	5	2	2	3	5	5	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr16:4903155G>C	ENST00000396658.4	+	1	940	c.237G>C	c.(235-237)caG>caC	p.Q79H	UBN1_ENST00000545171.1_Missense_Mutation_p.Q79H|UBN1_ENST00000262376.6_Missense_Mutation_p.Q79H|UBN1_ENST00000590769.1_Missense_Mutation_p.Q79H	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	79	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAGGCCTTCAGCCTGGAGATA	0.537													11	38					0	0	0	0	C	4903155	G	C	4903155	3	2	287	1	0	0	0	0	1	0	0	0	16988	962	34	4	239	4	UBN1	16	4903155	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08		4903155	85451598	129	51078											
TP53	7157	broad.mit.edu	37	chr17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgttacacatgtagttgTagtggatggtggtacagtca	11	13	12	5	0	1	0	1	0	0	0	1	1	1	1	0	3	3	5	0	3	5	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:7577580T>C	ENST00000420246.2	-	7	833	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000269305.4_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	234	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATGTAGTTGTAGTGGATGGT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			45	25					0	0	0	0	C	7577580	T	C	7577580	3	2	287	1	0	0	0	0	1	0	0	0	16476	1638	57	5	589	5	TP53	17	7577580	Missense_Mutation	SNP	T	TCGA-CV-7235-01A-11D-2012-08		7577580	73617630	130	51079											
MYH8	4626	broad.mit.edu	37	chr17	10303758	10303758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtcatcagtctccatCttcagctcactcttctcctt	6	15	5	15	0	8	1	4	1	4	0	10	1	8	1	2	1	1	1	2	1	0	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:10303758C>A	ENST00000403437.2	-	27	3778	c.3684G>T	c.(3682-3684)aaG>aaT	p.K1228N	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1228					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGTCTCCATCTTCAGCTCAC	0.488									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				28	137					2.12542e-12	3.25292e-12	1	0	A	10303758	C	A	10303758	3	1	287	1	0	0	0	0	1	0	0	0	10111	912	32	2	2185	2	MYH8	17	10303758	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	2726178	10303758	70891452	131	51080											
HEXIM2	124790	broad.mit.edu	37	chr17	43246702	43246702	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggcctcccgggtccgcgaAgagatgttcgccaaaggcca	9	5	14	13	4	0	1	0	0	0	1	3	3	2	1	5	3	0	1	5	3	2	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:43246702A>G	ENST00000307275.3	+	4	823	c.387A>G	c.(385-387)gaA>gaG	p.E129E	RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Silent_p.E129E|HEXIM2_ENST00000591576.1_Silent_p.E129E	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	129					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						GGGTCCGCGAAGAGATGTTCG	0.627													7	41					0	0	0	0	G	43246702	A	G	43246702	2	3	287	1	0	0	0	0	0	0	0	1	7127	69	3	5		5	HEXIM2	17	43246702	Silent	SNP	A	TCGA-CV-7235-01A-11D-2012-08	32942944	43246702	37948508	132	51081											
GH2	2689	broad.mit.edu	37	chr17	61958488	61958488	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatgaatacttctgctcCttcaggatataggcttcttc	10	14	8	9	0	3	1	1	1	2	0	5	3	4	3	1	3	2	2	1	3	5	7			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:61958488C>T	ENST00000332800.7	-	3	325	c.192G>A	c.(190-192)aaG>aaA	p.K64K	GH2_ENST00000456543.2_Silent_p.K64K|GH2_ENST00000423893.2_Silent_p.K64K|GH2_ENST00000449787.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	64						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						ACTTCTGCTCCTTCAGGATAT	0.507													106	79					0	0	0	0	T	61958488	C	T	61958488	2	4	287	1	0	0	0	0	0	0	0	1	6419	680	24	4		4	GH2	17	61958488	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08	18711786	61958488	19236722	133	51082											
CSNK1D	1453	broad.mit.edu	37	chr17	80211118	80211118	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaatgtattcgatgcgactGatctgtgagcagagcaaggg	11	10	14	6	2	1	4	0	3	1	1	2	6	1	4	0	1	3	3	0	1	3	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:80211118G>A	ENST00000314028.6	-	4	688	c.339C>T	c.(337-339)atC>atT	p.I113I	CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Silent_p.I113I|CSNK1D_ENST00000392334.2_Silent_p.I113I	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	113	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CGATGCGACTGATCTGTGAGC	0.552													55	40					0	0	0	0	A	80211118	G	A	80211118	2	1	287	1	0	0	0	0	0	0	0	1	3984	1280	45	2		2	CSNK1D	17	80211118	Silent	SNP	G	TCGA-CV-7235-01A-11D-2012-08	18252630	80211118	984092	134	51083											
DSC1	1823	broad.mit.edu	37	chr18	28713884	28713884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacagaacccaacaccatagCaagaatagcccatcttccaa	17	6	4	14	0	1	2	0	0	1	2	2	2	2	2	4	0	5	1	4	0	8	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr18:28713884C>A	ENST00000257197.3	-	13	2347	c.2086G>T	c.(2086-2088)Gct>Tct	p.A696S	DSC1_ENST00000257198.5_Missense_Mutation_p.A696S|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	696					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)			AACACCATAGCAAGAATAGCC	0.318													24	23					3.10358e-05	4.40112e-05	1	0	A	28713884	C	A	28713884	3	1	287	1	0	0	0	0	1	0	0	0	4801	710	25	4	654	4	DSC1	18	28713884	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08		28713884	49363364	135	51084											
SETBP1	26040	broad.mit.edu	37	chr18	42530735	42530735	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagagaatgagtccccctCagttggccttgaaactggtg	10	10	12	9	0	1	3	1	2	0	1	2	5	2	3	3	2	1	1	3	2	3	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr18:42530735C>A	ENST00000282030.5	+	4	1726	c.1430C>A	c.(1429-1431)tCa>tAa	p.S477*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	477						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGTCCCCCTCAGTTGGCCTT	0.488									Schinzel-Giedion syndrome				19	56					4.35082e-09	7.56213e-09	1	0	A	42530735	C	A	42530735	4	1	287	1	0	0	0	0	0	1	0	0	14216	838	29	2	1633	2	SETBP1	18	42530735	Nonsense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	13816851	42530735	35546513	136	51085											
DYM	54808	broad.mit.edu	37	chr18	46889584	46889584	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcacagcaattcttccaaAagatcttctgagtcagaacc	14	9	6	12	0	4	3	1	1	3	2	5	3	5	3	2	0	3	2	2	0	4	3			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr18:46889584A>T	ENST00000269445.6	-	6	898	c.441T>A	c.(439-441)ctT>ctA	p.L147L	DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_5'UTR	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	147						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ATTCTTCCAAAAGATCTTCTG	0.348													6	27					0	0	0	0	T	46889584	A	T	46889584	2	4	287	1	0	0	0	0	0	0	0	1	4876	1	1	5		5	DYM	18	46889584	Silent	SNP	A	TCGA-CV-7235-01A-11D-2012-08	4358849	46889584	31187664	137	51086											
PNPLA6	10908	broad.mit.edu	37	chr19	7619913	7619913	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgctcggggcacctgcaCctgcgctgtccgcgccgcct	2	8	14	17	5	0	0	0	0	0	0	2	0	1	0	5	3	3	4	5	3	0	0			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:7619913C>T	ENST00000221249.6	+	25	3086	c.2655C>T	c.(2653-2655)caC>caT	p.H885H	PNPLA6_ENST00000545201.2_Silent_p.H858H|PNPLA6_ENST00000450331.3_Silent_p.H885H|PNPLA6_ENST00000414982.3_Silent_p.H933H|PNPLA6_ENST00000600737.1_Silent_p.H923H	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	924					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGCACCTGCACCTGCGCTGTC	0.711													16	10					0	0	0	0	T	7619913	C	T	7619913	2	4	287	1	0	0	0	0	0	0	0	1	12241	506	18	4		4	PNPLA6	19	7619913	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08		7619913	51509070	138	51087											
PRDX2	7001	broad.mit.edu	37	chr19	12912075	12912075	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgcgttaccggaggccaTgactgaaagctgagaccccc	9	5	13	14	4	0	3	0	3	0	1	0	5	0	4	4	2	2	2	4	2	2	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:12912075T>A	ENST00000301522.2	-	2	129	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	PRDX2_ENST00000435703.1_Start_Codon_SNP_p.M1L|PRDX2_ENST00000334482.5_Start_Codon_SNP_p.M1L|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	1					anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCGGAGGCCATGACTGAAAGC	0.617													5	5					0	0	0	0	A	12912075	T	A	12912075	1	1	287	1	0	0	0	0	0	0	0	0	12545	1464	51	5		5	PRDX2	19	12912075	Translation_Start_Site	SNP	T	TCGA-CV-7235-01A-11D-2012-08	5292162	12912075	46216908	139	51088											
CPAMD8	27151	broad.mit.edu	37	chr19	17088187	17088189	+	In_Frame_Del	DEL	GAA	GAA	-																															cgatgctctacctggttttcGaagaaggtctcgactgcaaa																										TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:17088187_17088189delGAA	ENST00000443236.1	-	15	1919_1921	c.1888_1890delTTC	c.(1888-1890)del	p.F630del	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	583						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTGGTTTTCGAAGAAGGTCTCG	0.611													21	112	---	---	---	---					-	17088189	GAA	-	17088187	7	5	287	1	0	1	0	1	0	0	0	0	3825	1049	37	0	4020	0	CPAMD8	19	17088187	In_Frame_Del	DEL	GAA	TCGA-CV-7235-01A-11D-2012-08	4176112	17088187	42040796	140	51089											
CPAMD8	27151	broad.mit.edu	37	chr19	17122306	17122306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctcagatttggagagaCggtgaagatgcttatgagca	12	9	14	6	1	1	5	1	2	0	3	1	7	1	6	1	3	2	2	1	3	2	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:17122306C>T	ENST00000443236.1	-	5	626	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	CPAMD8_ENST00000388925.4_Missense_Mutation_p.V152I|CTD-2528A14.1_ENST00000595134.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	152						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTTGGAGAGACGGTGAAGATG	0.587													20	65					0	0	0	0	T	17122306	C	T	17122306	3	4	287	1	0	0	0	0	1	0	0	0	3825	536	19	1	5355	1	CPAMD8	19	17122306	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	34119	17122306	42006677	141	51090											
ZNF181	339318	broad.mit.edu	37	chr19	35232698	35232698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatgtgggaaagcctttaGtcataggtcatccctgcttc	9	14	9	9	0	2	0	2	0	0	0	4	1	3	1	2	2	2	1	2	2	5	6			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:35232698G>T	ENST00000392232.3	+	6	1712	c.1544G>T	c.(1543-1545)aGt>aTt	p.S515I	ZNF181_ENST00000492450.1_Missense_Mutation_p.S471I|ZNF181_ENST00000459757.1_Missense_Mutation_p.S470I			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAAGCCTTTAGTCATAGGTCA	0.388													23	56					6.32553e-13	9.74054e-13	1	0	T	35232698	G	T	35232698	3	4	287	1	0	0	0	0	1	0	0	0	17844	1029	36	4	1426	4	ZNF181	19	35232698	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	18110392	35232698	23896285	142	51091											
PSG8	440533	broad.mit.edu	37	chr19	43259226	43259226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcctgtttcatttctcGtgacactgggtagaatgagg	8	13	13	7	1	2	3	1	2	1	1	4	3	3	3	1	3	0	2	1	3	2	3	rs150991804		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:43259226G>C	ENST00000404209.4	-	4	998	c.902C>G	c.(901-903)aCg>aGg	p.T301R	PSG8_ENST00000406636.3_Missense_Mutation_p.T179R|PSG8_ENST00000306511.4_Missense_Mutation_p.T301R|PSG8_ENST00000401467.2_Missense_Mutation_p.T208R|PSG8_ENST00000600709.1_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	301	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCATTTCTCGTGACACTGGG	0.478													92	77					0	0	0	0	C	43259226	G	C	43259226	3	2	287	1	0	0	0	0	1	0	0	0	12740	1145	40	3	407	3	PSG8	19	43259226	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	8026528	43259226	15869757	143	51092											
CALM3	808	broad.mit.edu	37	chr19	47111573	47111573	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaagcagagctgcaggatAtgatcaatgaggtggatgca	13	8	14	6	0	1	4	1	3	0	1	1	6	1	6	0	3	4	4	0	3	3	1			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:47111573A>G	ENST00000291295.9	+	3	353	c.154A>G	c.(154-156)Atg>Gtg	p.M52V	CALM3_ENST00000597743.1_Missense_Mutation_p.M52V|CALM3_ENST00000599839.1_Missense_Mutation_p.M16V|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000598871.1_Missense_Mutation_p.M16V|CALM3_ENST00000391918.2_Missense_Mutation_p.M16V|CALM3_ENST00000596362.1_Missense_Mutation_p.M52V|CALM3_ENST00000594523.1_Missense_Mutation_p.M16V	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	52	EF-hand 2.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GCTGCAGGATATGATCAATGA	0.582													28	20					0	0	0	0	G	47111573	A	G	47111573	3	3	287	1	0	0	0	0	1	0	0	0	2611	449	16	5	164	5	CALM3	19	47111573	Missense_Mutation	SNP	A	TCGA-CV-7235-01A-11D-2012-08	3852347	47111573	12017410	144	51093											
ZNF8	7554	broad.mit.edu	37	chr19	58806142	58806142	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatgtgggaagtctttctGccatagtacacaccttaccg	10	11	9	11	2	2	0	0	0	2	0	2	2	2	1	3	1	3	1	3	1	5	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:58806142G>T	ENST00000196548.5	+	4	1099	c.968G>T	c.(967-969)tGc>tTc	p.C323F	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		AAGTCTTTCTGCCATAGTACA	0.557													25	23					2.39556e-15	3.7347e-15	1	0	T	58806142	G	T	58806142	3	4	287	1	0	0	0	0	1	0	0	0	18260	1319	46	4	982	4	ZNF8	19	58806142	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	11694569	58806142	322841	145	51094											
PRNP	5621	broad.mit.edu	37	chr20	4680247	4680247	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggggggccttggcggCtacatgctgggaagtgccat	5	9	19	8	1	0	0	0	0	0	0	0	1	0	1	2	7	3	2	2	7	2	2	rs11538754		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr20:4680247C>A	ENST00000379440.4	+	2	668	c.381C>A	c.(379-381)ggC>ggA	p.G127G	PRNP_ENST00000430350.2_Silent_p.G127G	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	127	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	GCCTTGGCGGCTACATGCTGG	0.557													32	37					7.65355e-07	1.09774e-06	1	0	A	4680247	C	A	4680247	2	1	287	1	0	0	0	0	0	0	0	1	12624	784	28	4		4	PRNP	20	4680247	Silent	SNP	C	TCGA-CV-7235-01A-11D-2012-08		4680247	58345273	146	51095											
PCSK2	5126	broad.mit.edu	37	chr20	17462446	17462446	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgactccaaggtgggctttGacaagtggcctttcatgacc	9	10	11	11	1	1	2	1	2	0	0	2	3	2	2	3	3	0	1	3	3	2	2			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr20:17462446G>C	ENST00000262545.2	+	12	1963	c.1648G>C	c.(1648-1650)Gac>Cac	p.D550H	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.D531H|PCSK2_ENST00000536609.1_Missense_Mutation_p.D515H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	550					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGGGCTTTGACAAGTGGCC	0.597													11	31					0	0	0	0	C	17462446	G	C	17462446	3	2	287	1	0	0	0	0	1	0	0	0	11672	1290	45	2	1694	2	PCSK2	20	17462446	Missense_Mutation	SNP	G	TCGA-CV-7235-01A-11D-2012-08	12782199	17462446	45563074	147	51096											
SON	6651	broad.mit.edu	37	chr21	34926744	34926744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcagatttagtgagacCgttacttcctaaggacatgg	12	11	11	7	1	0	3	0	2	0	2	1	5	1	4	2	2	2	2	2	2	4	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr21:34926744C>T	ENST00000356577.4	+	3	5682	c.5207C>T	c.(5206-5208)cCg>cTg	p.P1736L	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.P1736L|SON_ENST00000381679.4_Missense_Mutation_p.P1736L|SON_ENST00000290239.6_Missense_Mutation_p.P1736L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1736					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTAGTGAGACCGTTACTTCCT	0.453													21	77					0	0	0	0	T	34926744	C	T	34926744	3	4	287	1	0	0	0	0	1	0	0	0	15014	652	23	1	5217	1	SON	21	34926744	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08		34926744	13203151	148	51097											
SMTN	6525	broad.mit.edu	37	chr22	31485785	31485785	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacagtgacactcctgcTgcgagccccacctgggagca	9	5	11	16	1	0	1	0	1	0	0	1	4	1	2	5	1	4	2	5	1	0	0			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr22:31485785T>C	ENST00000333137.7	+	7	790	c.572T>C	c.(571-573)cTg>cCg	p.L191P	SMTN_ENST00000347557.2_Missense_Mutation_p.L191P|SMTN_ENST00000358743.1_Missense_Mutation_p.L191P	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	191					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						ACACTCCTGCTGCGAGCCCCA	0.637													14	51					0	0	0	0	C	31485785	T	C	31485785	3	2	287	1	0	0	0	0	1	0	0	0	14902	1580	55	5	594	5	SMTN	22	31485785	Missense_Mutation	SNP	T	TCGA-CV-7235-01A-11D-2012-08		31485785	19818781	149	51098											
CACNG2	10369	broad.mit.edu	37	chr22	37098605	37098605	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttaaaagcatttgaacacctCgatcaaacagccccataatt	16	10	4	11	1	1	1	1	1	0	0	2	2	1	1	3	0	4	1	3	0	5	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr22:37098605C>G	ENST00000300105.6	-	1	998	c.17G>C	c.(16-18)cGa>cCa	p.R6P		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	6					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TTGAACACCTCGATCAAACAG	0.468													13	85					0	0	0	0	G	37098605	C	G	37098605	3	3	287	1	0	0	0	0	1	0	0	0	2582	884	31	3	970	3	CACNG2	22	37098605	Missense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08	5612820	37098605	14205961	150	51099											
FAM47A	158724	broad.mit.edu	37	chrX	34148619	34148619	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagagtcagaaacgcactCttttgtgcttggtgtatctt	10	14	10	7	1	3	2	1	0	2	2	3	3	3	2	0	1	2	3	0	1	3	5			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chrX:34148619C>A	ENST00000346193.3	-	1	1828	c.1777G>T	c.(1777-1779)Gag>Tag	p.E593*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	593										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAAACGCACTCTTTTGTGCTT	0.468													15	17					1.3612e-06	1.94126e-06	1	0	A	34148619	C	A	34148619	4	1	287	1	0	0	0	0	0	1	0	0	5616	922	32	2	602	2	FAM47A	23	34148619	Nonsense_Mutation	SNP	C	TCGA-CV-7235-01A-11D-2012-08		34148619	121121941	151	51100											
CXorf57	55086	broad.mit.edu	37	chrX	105868408	105868408	+	Frame_Shift_Del	DEL	T	T	-																															gtggtataaaagtttgcgggTtggtttagttcttctgcttc																										TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chrX:105868408delT	ENST00000372548.4	+	3	984	c.875delT	c.(874-876)gtfs	p.V292fs	CXorf57_ENST00000372544.2_Frame_Shift_Del_p.V292fs	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	292										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AGTTTGCGGGTTGGTTTAGTT	0.408													47	41	---	---	---	---					-	105868408	T	-	105868408	7	5	287	1	0	1	0	1	0	0	0	0	4145	1725	60	0	885	0	CXorf57	23	105868408	Frame_Shift_Del	DEL	T	TCGA-CV-7235-01A-11D-2012-08	71719789	105868408	49402152	152	51101											
NKRF	55922	broad.mit.edu	37	chrX	118723979	118723979	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggcctgtcatcctttcaTagacatactcaactgtcatt	10	13	7	11	0	4	1	4	0	0	1	5	2	5	2	2	2	2	0	2	2	3	4			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chrX:118723979T>C	ENST00000371527.1	-	2	2061	c.1409A>G	c.(1408-1410)tAt>tGt	p.Y470C	NKRF_ENST00000542113.1_Missense_Mutation_p.Y485C|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.Y470C	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	470					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CATCCTTTCATAGACATACTC	0.408													3	81					0	0	0	0	C	118723979	T	C	118723979	3	2	287	1	0	0	0	0	1	0	0	0	10517	1406	49	5	667	5	NKRF	23	118723979	Missense_Mutation	SNP	T	TCGA-CV-7235-01A-11D-2012-08	12855571	118723979	36546581	153	51102											
UBE2J2	118424	broad.mit.edu	37	chr1	1191442	1191443	+	Frame_Shift_Del	DEL	AT	AT	-																															tacctccacgacttcaggaaAtaattcacaaaagactttat																										TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:1191442_1191443delAT	ENST00000347370.2	-	6	794_795	c.321_322delAT	c.(319-324)ttttfs	p.LF107fs	UBE2J2_ENST00000339385.6_Frame_Shift_Del_p.LF124fs|UBE2J2_ENST00000400929.2_Frame_Shift_Del_p.LF107fs|UBE2J2_ENST00000348298.7_Frame_Shift_Del_p.LF107fs|UBE2J2_ENST00000400930.4_Frame_Shift_Del_p.LF175fs|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000360466.2_Frame_Shift_Del_p.LF159fs|UBE2J2_ENST00000349431.6_Frame_Shift_Del_p.LF159fs	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	159					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		ACTTCAGGAAATAATTCACAAA	0.401													16	100	---	---	---	---					-	1191443	AT	-	1191442	7	5	288	1	0	1	0	1	0	0	0	0	16957	101	4	0	309	0	UBE2J2	1	1191442	Frame_Shift_Del	DEL	AT	TCGA-CV-7236-01A-11D-2012-08		1191442	248059179	1	51103											
IPO13	9670	broad.mit.edu	37	chr1	44433123	44433123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggtttcccctctgcccGcctcagccctgaacagaagg	7	8	9	17	1	2	2	1	1	1	1	3	2	3	2	6	2	3	1	6	2	2	1			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:44433123G>A	ENST00000372343.3	+	19	3412	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	IPO13_ENST00000372339.3_Missense_Mutation_p.R135H	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	917					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCCTCTGCCCGCCTCAGCCCT	0.617													8	55					0	0	0	0	A	44433123	G	A	44433123	3	1	288	1	0	0	0	0	1	0	0	0	7847	1087	38	1	2824	1	IPO13	1	44433123	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08	43241681	44433123	204817498	2	51104											
ODF2L	57489	broad.mit.edu	37	chr1	86850380	86850382	+	In_Frame_Del	DEL	AAG	AAG	-																															tgtttgtagtctctctttctAagaagatgttctaaagctag																										TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:86850380_86850382delAAG	ENST00000359242.3	-	4	630_632	c.349_351delCTT	c.(349-351)del	p.L117del	ODF2L_ENST00000370567.1_In_Frame_Del_p.L117del|ODF2L_ENST00000294678.2_In_Frame_Del_p.L117del|ODF2L_ENST00000317336.7_In_Frame_Del_p.L117del|ODF2L_ENST00000394731.1_5'UTR|ODF2L_ENST00000370566.3_In_Frame_Del_p.L117del	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	117						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CTCTCTTTCTAAGAAGATGTTCT	0.286													7	73	---	---	---	---					-	86850382	AAG	-	86850380	7	5	288	1	0	1	0	1	0	0	0	0	10899	349	13	0	1795	0	ODF2L	1	86850380	In_Frame_Del	DEL	AAG	TCGA-CV-7236-01A-11D-2012-08	42417257	86850380	162400241	3	51105											
SPTA1	6708	broad.mit.edu	37	chr1	158621162	158621162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagccttagttacctgccGgatttgagctccttctggtg	5	13	13	10	1	1	1	0	1	1	0	2	3	2	3	4	3	4	2	4	3	2	4			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:158621162G>A	ENST00000368148.3	-	24	3652	c.3472C>T	c.(3472-3474)Cgg>Tgg	p.R1158W	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1158W	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1158					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTACCTGCCGGATTTGAGCT	0.458													21	194					0	0	0	0	A	158621162	G	A	158621162	3	1	288	1	0	0	0	0	1	0	0	0	15206	1115	39	1	3903	1	SPTA1	1	158621162	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08	71770782	158621162	90629459	4	51106											
USH2A	7399	broad.mit.edu	37	chr1	215847770	215847770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggtgagagtaaaatcacGatagcgtgtttccaagcctg	11	10	13	7	2	1	1	1	1	0	1	2	3	2	1	2	2	2	2	2	2	4	3			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:215847770G>A	ENST00000366943.2	-	63	13869	c.13483C>T	c.(13483-13485)Cgt>Tgt	p.R4495C	USH2A_ENST00000307340.3_Missense_Mutation_p.R4495C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4495	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTAAAATCACGATAGCGTGTT	0.458										HNSCC(13;0.011)			28	165					0	0	0	0	A	215847770	G	A	215847770	3	1	288	1	0	0	0	0	1	0	0	0	17132	1058	37	1	2165	1	USH2A	1	215847770	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08	57226608	215847770	33402851	5	51107											
FAM98A	25940	broad.mit.edu	37	chr2	33820638	33820638	+	Frame_Shift_Del	DEL	G	G	-																															gcacagagtttggtaaactcGggggaactggctccagcaga																										TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr2:33820638delG	ENST00000403368.1	-	2	189	c.120delC	c.(118-120)ccfs	p.P40fs	FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000238823.8_Frame_Shift_Del_p.P40fs	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	40										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TGGTAAACTCGGGGGAACTGG	0.448													10	105	---	---	---	---					-	33820638	G	-	33820638	7	5	288	1	0	1	0	1	0	0	0	0	5701	1103	39	0	1464	0	FAM98A	2	33820638	Frame_Shift_Del	DEL	G	TCGA-CV-7236-01A-11D-2012-08		33820638	209378735	6	51108											
BAZ2B	29994	broad.mit.edu	37	chr2	160206265	160206265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaagccaacaggattctgaGcagaagatccaagaggagct	15	7	11	8	0	1	4	0	1	1	3	2	6	2	6	2	2	4	2	2	2	4	2			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr2:160206265G>A	ENST00000392783.2	-	28	5312	c.4817C>T	c.(4816-4818)gCt>gTt	p.A1606V	BAZ2B_ENST00000355831.2_Missense_Mutation_p.A1572V|BAZ2B_ENST00000392782.1_Missense_Mutation_p.A1570V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A1506V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGGATTCTGAGCAGAAGATCC	0.423													3	62					0	0	0	0	A	160206265	G	A	160206265	3	1	288	1	0	0	0	0	1	0	0	0	1336	971	34	4	1729	4	BAZ2B	2	160206265	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08	126385627	160206265	82993108	7	51109											
EVX2	344191	broad.mit.edu	37	chr2	176947144	176947144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcccgacgccgacgtcGtggtgccggcagccgagccg	5	4	16	16	8	0	1	0	1	0	0	1	4	0	1	5	2	4	1	5	2	0	0			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr2:176947144G>A	ENST00000308618.4	-	2	597	c.461C>T	c.(460-462)aCg>aTg	p.T154M		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	154						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGCCGACGTCGTGGTGCCGGC	0.711													4	30					0	0	0	0	A	176947144	G	A	176947144	3	1	288	1	0	0	0	0	1	0	0	0	5332	1145	40	1	975	1	EVX2	2	176947144	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08	16740879	176947144	66252229	8	51110											
TTN	7273	broad.mit.edu	37	chr2	179411521	179411521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacctcactgactggcttaCgctctatgatgtagcccaca	9	11	7	14	1	2	2	1	2	1	0	2	2	2	2	2	1	3	3	2	1	4	4			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr2:179411521C>T	ENST00000589042.1	-	341	94858	c.94634G>A	c.(94633-94635)cGt>cAt	p.R31545H	TTN_ENST00000460472.2_Missense_Mutation_p.R22480H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29904H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22672H|TTN_ENST00000342992.6_Missense_Mutation_p.R28977H|TTN_ENST00000359218.5_Missense_Mutation_p.R22605H|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29904	Ig-like 140.						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)			GACTGGCTTACGCTCTATGAT	0.498													12	59					0	0	0	0	T	179411521	C	T	179411521	3	4	288	1	0	0	0	0	1	0	0	0	16831	536	19	1	13433	1	TTN	2	179411521	Missense_Mutation	SNP	C	TCGA-CV-7236-01A-11D-2012-08	2464377	179411521	63787852	9	51111											
CHL1	10752	broad.mit.edu	37	chr3	369940	369940	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaacattcaggatcccaaaCgaggggcacatatctcactt	13	8	9	11	1	2	0	2	0	1	0	4	3	3	2	1	4	2	1	1	4	3	3			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr3:369940C>T	ENST00000256509.2	+	5	930	c.288C>T	c.(286-288)aaC>aaT	p.N96N	CHL1_ENST00000397491.2_Silent_p.N96N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	96	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GGATCCCAAACGAGGGGCACA	0.388													14	80					0	0	0	0	T	369940	C	T	369940	2	4	288	1	0	0	0	0	0	0	0	1	3378	535	19	1		1	CHL1	3	369940	Silent	SNP	C	TCGA-CV-7236-01A-11D-2012-08		369940	197652490	10	51112											
FGD5	152273	broad.mit.edu	37	chr3	14942543	14942543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctccaaagtcacagaccGtgccaacgacagcatggagc	13	5	9	14	2	2	1	1	0	1	1	3	3	2	2	3	1	4	1	3	1	2	0			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr3:14942543G>A	ENST00000285046.5	+	9	3349	c.3239G>A	c.(3238-3240)cGt>cAt	p.R1080H	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.R839H	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1080	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTCACAGACCGTGCCAACGAC	0.612													22	101					0	0	0	0	A	14942543	G	A	14942543	3	1	288	1	0	0	0	0	1	0	0	0	5881	1145	40	1	3273	1	FGD5	3	14942543	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08	14572603	14942543	183079887	11	51113											
WDR49	151790	broad.mit.edu	37	chr3	167240197	167240197	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaaataaagaaatttcctTttgaatctcactttccacta	16	14	3	8	0	1	3	1	1	1	2	4	3	3	3	2	0	0	0	2	0	7	6			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr3:167240197T>A	ENST00000308378.3	-	12	1929	c.1624A>T	c.(1624-1626)Aag>Tag	p.K542*	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Nonsense_Mutation_p.K367*	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	542										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAAATTTCCTTTTGAATCTCA	0.318													21	40					0	0	0	0	A	167240197	T	A	167240197	4	1	288	1	0	0	0	0	0	1	0	0	17398	1850	64	5	485	5	WDR49	3	167240197	Nonsense_Mutation	SNP	T	TCGA-CV-7236-01A-11D-2012-08	152297654	167240197	30782233	12	51114											
ENPEP	2028	broad.mit.edu	37	chr4	111398075	111398075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacaaaaagcaggagtacGtggtggtcgaggcggaggaa	14	5	17	5	3	0	0	0	0	0	0	1	4	0	3	0	6	3	3	0	6	5	2			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr4:111398075G>A	ENST00000265162.5	+	1	847	c.505G>A	c.(505-507)Gtg>Atg	p.V169M		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	169					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCAGGAGTACGTGGTGGTCGA	0.632													31	165					0	0	0	0	A	111398075	G	A	111398075	3	1	288	1	0	0	0	0	1	0	0	0	5166	1145	40	1	507	1	ENPEP	4	111398075	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08		111398075	79756201	13	51115											
RAPGEF2	9693	broad.mit.edu	37	chr4	160251524	160251524	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaatgcatttggtggaagaGcattcagtagtagatccaac	14	10	10	7	0	1	2	1	0	0	2	2	3	2	3	1	2	3	4	1	2	5	4			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr4:160251524G>A	ENST00000264431.4	+	7	1277	c.858G>A	c.(856-858)gaG>gaA	p.E286E		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	286	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGGTGGAAGAGCATTCAGTAG	0.378													17	88					0	0	0	0	A	160251524	G	A	160251524	2	1	288	1	0	0	0	0	0	0	0	1	13126	962	34	4		4	RAPGEF2	4	160251524	Silent	SNP	G	TCGA-CV-7236-01A-11D-2012-08	48853449	160251524	30902752	14	51116											
HAND2	9464	broad.mit.edu	37	chr4	174449919	174449919	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctcctctttcacgtcGgtcttcttgatctctgcctt	2	19	5	15	2	7	1	1	1	6	0	10	1	7	1	2	1	1	0	2	1	0	5			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr4:174449919G>A	ENST00000359562.4	-	1	1461	c.522C>T	c.(520-522)acC>acT	p.T174T	HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	174					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CTTTCACGTCGGTCTTCTTGA	0.627													14	34					0	0	0	0	A	174449919	G	A	174449919	2	1	288	1	0	0	0	0	0	0	0	1	7000	1103	39	1		1	HAND2	4	174449919	Silent	SNP	G	TCGA-CV-7236-01A-11D-2012-08	14198395	174449919	16704357	15	51117											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114571	27114571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggagcggacttcgctggttCcggcatgttgaaggcgaact	7	9	16	9	4	0	1	0	1	0	0	2	4	1	3	1	5	2	4	1	5	2	3			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr6:27114571C>T	ENST00000396891.4	-	1	48	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.E3K	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	3					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTCGCTGGTTCCGGCATGTTG	0.567													8	84					0	0	0	0	T	27114571	C	T	27114571	3	4	288	1	0	0	0	0	1	0	0	0	7200	864	30	2	377	2	HIST1H2BK	6	27114571	Missense_Mutation	SNP	C	TCGA-CV-7236-01A-11D-2012-08		27114571	144000496	16	51118											
DST	667	broad.mit.edu	37	chr6	56471494	56471494	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcatcattttcctcttgCagtgtgtcgtagtcctcagg	5	16	9	11	1	4	0	3	0	2	0	8	0	6	0	2	1	1	2	2	1	1	4			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr6:56471494C>T	ENST00000370754.5	-	39	7832	c.7833G>A	c.(7831-7833)ctG>ctA	p.L2611L	DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Silent_p.L2433L|DST_ENST00000361203.3_Silent_p.L2433L|DST_ENST00000312431.6_Silent_p.L2433L|DST_ENST00000446842.2_Silent_p.L2107L			Q03001	DYST_HUMAN	dystonin	2433					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTCCTCTTGCAGTGTGTCGT	0.433													15	104					0	0	0	0	T	56471494	C	T	56471494	2	4	288	1	0	0	0	0	0	0	0	1	4819	725	25	4		4	DST	6	56471494	Silent	SNP	C	TCGA-CV-7236-01A-11D-2012-08	29356923	56471494	114643573	17	51119											
EPDR1	54749	broad.mit.edu	37	chr7	37988614	37988614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcaggagcagatcaccGtccaggagtggtcggacaga	10	5	15	11	2	2	2	2	0	0	2	4	5	3	5	3	5	1	1	3	5	0	0			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:37988614G>A	ENST00000199448.4	+	2	821	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Missense_Mutation_p.V87I|EPDR1_ENST00000476620.1_Missense_Mutation_p.V46I|EPDR1_ENST00000559325.1_Missense_Mutation_p.V268I	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	148					cell-matrix adhesion	extracellular region	calcium ion binding	p.V268I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GCAGATCACCGTCCAGGAGTG	0.493													7	85					0	0	0	0	A	37988614	G	A	37988614	3	1	288	1	0	0	0	0	1	0	0	0	5201	1145	40	1	808	1	EPDR1	7	37988614	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08		37988614	121150049	18	51120											
EGFR	1956	broad.mit.edu	37	chr7	55221819	55221831	+	Frame_Shift_Del	DEL	GTGCCACCTGCGT	GTGCCACCTGCGT	-																															cgagggcaaatacagctttgGtgccacctgcgtgaagaagt																								rs149840192		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:55221819_55221831delGTGCCACCTGCGT	ENST00000275493.2	+	7	1040_1052	c.863_875delGTGCCACCTGCGT	c.(862-876)ggfs	p.GATCV288fs	EGFR_ENST00000442591.1_Frame_Shift_Del_p.GATCV288fs|EGFR_ENST00000344576.2_Frame_Shift_Del_p.GATCV288fs|EGFR_ENST00000342916.3_Frame_Shift_Del_p.GATCV288fs|EGFR_ENST00000420316.2_Frame_Shift_Del_p.GATCV288fs|EGFR_ENST00000454757.2_Frame_Shift_Del_p.GATCV235fs|EGFR_ENST00000455089.1_Frame_Shift_Del_p.GATCV243fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	288					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289T(3)|p.A289D(3)|p.V292L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TACAGCTTTGGTGCCACCTGCGTGAAGAAGTGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			8	318	---	---	---	---					-	55221831	GTGCCACCTGCGT	-	55221819	7	5	288	1	0	1	0	1	0	0	0	0	5003	1261	44	0	889	0	EGFR	7	55221819	Frame_Shift_Del	DEL	GTGCCACCTGCGT	TCGA-CV-7236-01A-11D-2012-08	17233205	55221819	103916844	19	51121											
POM121	9883	broad.mit.edu	37	chr7	72418901	72418901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccagcaagaacacagcccGaggaagggacccaataacct	16	2	9	14	1	0	1	0	0	0	1	0	4	0	3	4	2	4	1	4	2	5	1			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:72418901G>A	ENST00000395270.1	+	16	3933	c.2892G>A	c.(2890-2892)ccG>ccA	p.P964P	POM121_ENST00000446813.1_Silent_p.P964P|NSUN5P2_ENST00000388955.4_RNA	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1003	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AACACAGCCCGAGGAAGGGAC	0.488													14	85					0	0	0	0	A	72418901	G	A	72418901	2	1	288	1	0	0	0	0	0	0	0	1	12311	1073	37	1		1	POM121	7	72418901	Silent	SNP	G	TCGA-CV-7236-01A-11D-2012-08	17197082	72418901	86719762	20	51122											
ZNF777	27153	broad.mit.edu	37	chr7	149152729	149152729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagcttcaggggagtgaaCgggggcttcctggtggtggg	6	8	21	6	1	1	1	1	1	0	0	2	3	2	3	1	8	2	2	1	8	1	2			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:149152729C>T	ENST00000247930.4	-	2	708	c.385G>A	c.(385-387)Gtt>Att	p.V129I		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGGAGTGAACGGGGGCTTCC	0.617													23	174					0	0	0	0	T	149152729	C	T	149152729	3	4	288	1	0	0	0	0	1	0	0	0	18243	536	19	1	2130	1	ZNF777	7	149152729	Missense_Mutation	SNP	C	TCGA-CV-7236-01A-11D-2012-08	76733828	149152729	9985934	21	51123											
ZNF775	285971	broad.mit.edu	37	chr7	150094922	150094922	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagttcatctgcaacgagtgCggcaagagcttctcgtggtg	8	10	13	10	3	3	1	1	0	2	1	4	2	3	1	0	2	4	4	0	2	2	2			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:150094922C>T	ENST00000329630.5	+	3	1460	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C451C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAACGAGTGCGGCAAGAGCT	0.731													5	14					0	0	0	0	T	150094922	C	T	150094922	2	4	288	1	0	0	0	0	0	0	0	1	18241	776	27	1		1	ZNF775	7	150094922	Silent	SNP	C	TCGA-CV-7236-01A-11D-2012-08	942193	150094922	9043741	22	51124											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585202	70585202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgggtaggtctgtgctgCgcactggatccctttttgca	4	12	12	13	2	1	0	0	0	1	0	2	1	2	1	3	3	3	4	3	3	1	3			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr8:70585202C>T	ENST00000260126.3	-	10	3155	c.2449G>A	c.(2449-2451)Gca>Aca	p.A817T	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A762T|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	817						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTCTGTGCTGCGCACTGGATC	0.617													11	79					0	0	0	0	T	70585202	C	T	70585202	3	4	288	1	0	0	0	0	1	0	0	0	14819	768	27	1	101	1	SLCO5A1	8	70585202	Missense_Mutation	SNP	C	TCGA-CV-7236-01A-11D-2012-08		70585202	75778820	23	51125											
HNF4G	3174	broad.mit.edu	37	chr8	76471035	76471035	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctcttattcctttgttaGatgcaaaagggctaagcgat	10	14	8	9	1	1	1	0	0	1	1	3	2	2	1	2	1	2	3	2	1	5	5			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr8:76471035G>A	ENST00000396423.2	+	8	980		c.e8-1		HNF4G_ENST00000354370.1_Splice_Site	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma						endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCCTTTGTTAGATGCAAAAGG	0.353													13	28					0	0	0	0	A	76471035	G	A	76471035	5	1	288	1	0	0	0	0	0	0	1	0	7304	956	33	2	886	2	HNF4G	8	76471035	Splice_Site	SNP	G	TCGA-CV-7236-01A-11D-2012-08	5885833	76471035	69892987	24	51126											
COL22A1	169044	broad.mit.edu	37	chr8	139824126	139824127	+	In_Frame_Ins	INS	-	-	GGTGGA																															tgggaggccgctggggtgggINSggtggaggtggaggctctgt																										TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr8:139824126_139824127insGGTGGA	ENST00000303045.6	-	9	1810_1811	c.1364_1365insTCCACC	c.(1363-1365)ccc>cTCCACCcc	p.454_455insLH	COL22A1_ENST00000435777.1_In_Frame_Ins_p.454_455insLH	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	454	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCTGGGGTGGGGGTGGAGGTGG	0.599										HNSCC(7;0.00092)			3	6	---	---	---	---					GGTGGA	139824127	-	GGTGGA	139824126	7	5	288	1	0	1	1	0	0	0	0	0	3711	1219	43	0	3743	0	COL22A1	8	139824126	In_Frame_Ins	INS	-	TCGA-CV-7236-01A-11D-2012-08	63353091	139824126	6539896	25	51127											
PLEC	5339	broad.mit.edu	37	chr8	144993755	144993755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccacgcccgccttcacggCctcgtggacatacaggcgct	7	6	10	18	5	1	0	1	0	0	0	2	1	1	1	4	3	1	1	4	3	1	2			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr8:144993755C>T	ENST00000322810.4	-	32	10814	c.10645G>A	c.(10645-10647)Gcc>Acc	p.A3549T	PLEC_ENST00000398774.2_Missense_Mutation_p.A3380T|PLEC_ENST00000436759.2_Missense_Mutation_p.A3439T|PLEC_ENST00000354958.2_Missense_Mutation_p.A3390T|PLEC_ENST00000357649.2_Missense_Mutation_p.A3416T|PLEC_ENST00000356346.3_Missense_Mutation_p.A3398T|PLEC_ENST00000527096.1_Missense_Mutation_p.A3435T|PLEC_ENST00000354589.3_Missense_Mutation_p.A3412T|PLEC_ENST00000345136.3_Missense_Mutation_p.A3412T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3549	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTTCACGGCCTCGTGGACA	0.687													13	38					0	0	0	0	T	144993755	C	T	144993755	3	4	288	1	0	0	0	0	1	0	0	0	12124	739	26	4	3413	4	PLEC	8	144993755	Missense_Mutation	SNP	C	TCGA-CV-7236-01A-11D-2012-08	5169629	144993755	1370267	26	51128											
ZNF510	22869	broad.mit.edu	37	chr9	99521423	99521423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctctcccgtgtgagttttCtgatgttgaatgagatgatc	7	17	10	7	1	2	5	0	5	2	1	5	6	3	5	1	0	0	2	1	0	1	4			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr9:99521423C>T	ENST00000375231.1	-	6	2339	c.1689G>A	c.(1687-1689)caG>caA	p.Q563Q	ZNF510_ENST00000223428.4_Silent_p.Q563Q			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGTGAGTTTTCTGATGTTGAA	0.423													9	120					0	0	0	0	T	99521423	C	T	99521423	2	4	288	1	0	0	0	0	0	0	0	1	18049	912	32	2		2	ZNF510	9	99521423	Silent	SNP	C	TCGA-CV-7236-01A-11D-2012-08		99521423	41692008	27	51129											
GOLGA2	2801	broad.mit.edu	37	chr9	131019939	131019939	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccttctcccggtgccGctccttcagcactgccctct	2	12	6	21	2	3	0	1	0	2	0	7	0	6	0	6	1	3	2	6	1	0	2			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr9:131019939G>T	ENST00000421699.2	-	24	2590	c.2578C>A	c.(2578-2580)Cgg>Agg	p.R860R		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	860						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCCCGGTGCCGCTCCTTCAGC	0.622													19	202					1.33834e-09	1.71787e-09	1	0	T	131019939	G	T	131019939	2	4	288	1	0	0	0	0	0	0	0	1	6603	1086	38	3		3	GOLGA2	9	131019939	Silent	SNP	G	TCGA-CV-7236-01A-11D-2012-08	31498516	131019939	10193492	28	51130											
RAPGEF1	2889	broad.mit.edu	37	chr9	134458080	134458080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgatcagtgtgcagtactCggccaggccctggcaggaca	8	7	14	12	2	1	0	1	0	0	0	3	2	1	1	2	4	2	3	2	4	1	1			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr9:134458080C>T	ENST00000372195.1	-	22	3160	c.2917G>A	c.(2917-2919)Gag>Aag	p.E973K	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E974K|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.E956K			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	956	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTGCAGTACTCGGCCAGGCCC	0.657													19	90					0	0	0	0	T	134458080	C	T	134458080	3	4	288	1	0	0	0	0	1	0	0	0	13125	893	31	1	379	1	RAPGEF1	9	134458080	Missense_Mutation	SNP	C	TCGA-CV-7236-01A-11D-2012-08	3438141	134458080	6755351	29	51131											
NOTCH1	4851	broad.mit.edu	37	chr9	139412252	139412252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctggtccaggcaggtggCgtcgttctggcacgggttcg	5	10	16	10	4	2	0	0	0	2	0	5	0	3	0	1	6	0	4	1	6	1	2			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr9:139412252C>T	ENST00000277541.6	-	8	1468	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	465	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGGTGGCGTCGTTCTGG	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			20	74					0	0	0	0	T	139412252	C	T	139412252	3	4	288	1	0	0	0	0	1	0	0	0	10617	768	27	1	6382	1	NOTCH1	9	139412252	Missense_Mutation	SNP	C	TCGA-CV-7236-01A-11D-2012-08	4954172	139412252	1801179	30	51132											
PLCE1	51196	broad.mit.edu	37	chr10	96014690	96014690	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaaaccccctcccttcCagaagagcccactctttgac	9	8	4	20	0	1	3	0	1	1	2	4	3	4	3	7	0	2	0	7	0	2	2			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr10:96014690C>A	ENST00000260766.3	+	11	4072	c.3438C>A	c.(3436-3438)tcC>tcA	p.S1146S	PLCE1_ENST00000371380.2_Silent_p.S1146S|PLCE1_ENST00000371375.1_Silent_p.S838S|PLCE1_ENST00000371385.3_Silent_p.S838S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1146					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCCTCCCTTCCAGAAGAGCCC	0.532													21	200					2.70639e-06	3.37319e-06	1	0	A	96014690	C	A	96014690	2	1	288	1	0	0	0	0	0	0	0	1	12106	581	21	4		4	PLCE1	10	96014690	Silent	SNP	C	TCGA-CV-7236-01A-11D-2012-08		96014690	39520057	31	51133											
MUC5B	727897	broad.mit.edu	37	chr11	1262890	1262890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctacaactacaggatcCgggtcctctgctgcagtgac	8	10	11	12	1	1	1	0	1	1	0	3	2	3	2	2	2	6	3	2	2	3	2			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr11:1262890C>T	ENST00000447027.1	+	31	4847	c.4789C>T	c.(4789-4791)Cgg>Tgg	p.R1597W	MUC5B_ENST00000529681.1_Missense_Mutation_p.R1594W			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1594	7 X Cys-rich subdomain repeats.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTACAGGATCCGGGTCCTCTG	0.637													4	27					0	0	0	0	T	1262890	C	T	1262890	3	4	288	1	0	0	0	0	1	0	0	0	10049	643	23	1	4911	1	MUC5B	11	1262890	Missense_Mutation	SNP	C	TCGA-CV-7236-01A-11D-2012-08		1262890	133743626	32	51134											
ZNF215	7762	broad.mit.edu	37	chr11	6977595	6977595	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttggaaacaatttctatCaatgtgttaactgtggaaaa	15	15	7	4	0	2	0	1	0	1	0	2	2	2	2	0	2	2	1	0	2	7	5			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr11:6977595C>T	ENST00000278319.5	+	7	1975	c.1387C>T	c.(1387-1389)Caa>Taa	p.Q463*	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Nonsense_Mutation_p.Q463*	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	463					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CAATTTCTATCAATGTGTTAA	0.398													5	65					0	0	0	0	T	6977595	C	T	6977595	4	4	288	1	0	0	0	0	0	1	0	0	17866	827	29	2	1405	2	ZNF215	11	6977595	Nonsense_Mutation	SNP	C	TCGA-CV-7236-01A-11D-2012-08	5714705	6977595	128028921	33	51135											
FSHB	2488	broad.mit.edu	37	chr11	30255210	30255210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgagagtgcccggctgtGctcaccatgcagattccttg	7	10	12	12	1	1	2	1	1	0	2	2	3	2	2	3	1	3	3	3	1	0	2			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr11:30255210G>A	ENST00000417547.1	+	3	292	c.253G>A	c.(253-255)Gct>Act	p.A85T	FSHB_ENST00000254122.3_Missense_Mutation_p.A85T|FSHB_ENST00000533718.1_Missense_Mutation_p.A85T	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	85					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GCCCGGCTGTGCTCACCATGC	0.527													6	63					0	0	0	0	A	30255210	G	A	30255210	3	1	288	1	0	0	0	0	1	0	0	0	6120	1319	46	4	259	4	FSHB	11	30255210	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08	23277615	30255210	104751306	34	51136											
OR1S1	219959	broad.mit.edu	37	chr11	57982768	57982768	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattgctcttctgtaaccaCaacactctcccacacttctt	10	13	2	16	0	4	0	0	0	4	0	5	0	4	0	2	0	3	2	2	0	3	5			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr11:57982768C>A	ENST00000309433.6	+	1	552	c.552C>A	c.(550-552)caC>caA	p.H184Q		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCTGTAACCACAACACTCTCC	0.438													35	117					1.22384e-17	1.59469e-17	1	0	A	57982768	C	A	57982768	3	1	288	1	0	0	0	0	1	0	0	0	11043	477	17	4	554	4	OR1S1	11	57982768	Missense_Mutation	SNP	C	TCGA-CV-7236-01A-11D-2012-08	27727558	57982768	77023748	35	51137											
MEN1	4221	broad.mit.edu	37	chr11	64572117	64572117	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcctgacactgcaccctGgccggtgcccaggcccttgt	4	8	13	16	1	0	1	0	1	0	0	1	1	1	1	5	4	2	1	5	4	0	1			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr11:64572117G>A	ENST00000337652.1	-	10	2040	c.1537C>T	c.(1537-1539)Cag>Tag	p.Q513*	MEN1_ENST00000377316.2_Nonsense_Mutation_p.Q453*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.Q513*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.Q513*|MEN1_ENST00000394376.1_Nonsense_Mutation_p.Q513*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.Q508*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.Q473*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.Q513*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.Q508*|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Nonsense_Mutation_p.Q508*	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	513					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ACTGCACCCTGGCCGGTGCCC	0.736			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				3	32					0	0	0	0	A	64572117	G	A	64572117	4	1	288	1	0	0	0	0	0	1	0	0	9541	1357	47	4	314	4	MEN1	11	64572117	Nonsense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08	6589349	64572117	70434399	36	51138											
RASSF8	11228	broad.mit.edu	37	chr12	26217656	26217656	+	Frame_Shift_Del	DEL	C	C	-																															gcagagtctgccccccttagCtaaactgaggcctcagattg																										TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr12:26217656delC	ENST00000405154.2	+	3	528	c.329delC	c.(328-330)gtfs	p.A110fs	RASSF8_ENST00000542865.1_Frame_Shift_Del_p.A110fs|RASSF8_ENST00000541490.1_Frame_Shift_Del_p.A110fs|RASSF8_ENST00000381352.3_Frame_Shift_Del_p.A110fs|RASSF8_ENST00000282884.9_Frame_Shift_Del_p.A110fs	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	110					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					CCCCCCTTAGCTAAACTGAGG	0.468													12	122	---	---	---	---					-	26217656	C	-	26217656	7	5	288	1	0	1	0	1	0	0	0	0	13174	797	28	0	335	0	RASSF8	12	26217656	Frame_Shift_Del	DEL	C	TCGA-CV-7236-01A-11D-2012-08		26217656	107634239	37	51139											
NCKAP5L	57701	broad.mit.edu	37	chr12	50191005	50191005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccctggcctggaggcCgccagggggtggcaggtgag	5	4	20	12	1	0	1	0	1	0	0	0	2	0	2	5	8	0	1	5	8	0	0	rs78047311		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr12:50191005C>A	ENST00000335999.6	-	8	839	c.638G>T	c.(637-639)cGg>cTg	p.R213L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	209	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCCTGGAGGCCGCCAGGGGGT	0.667													5	55					1.23904e-05	1.52225e-05	1	0	A	50191005	C	A	50191005	3	1	288	1	0	0	0	0	1	0	0	0	10294	652	23	3	3390	3	NCKAP5L	12	50191005	Missense_Mutation	SNP	C	TCGA-CV-7236-01A-11D-2012-08	23973349	50191005	83660890	38	51140											
C12orf56	115749	broad.mit.edu	37	chr12	64661051	64661051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagccttttctgcaaggctGgcatgtgaataaagtacctg	10	11	12	8	0	1	1	0	1	1	0	1	2	1	2	2	3	3	4	2	3	5	4			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr12:64661051G>A	ENST00000543942.2	-	13	2407	c.1781C>T	c.(1780-1782)cCa>cTa	p.P594L	C12orf56_ENST00000333722.5_Missense_Mutation_p.P434L|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	597										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CTGCAAGGCTGGCATGTGAAT	0.353													4	17					0	0	0	0	A	64661051	G	A	64661051	3	1	288	1	0	0	0	0	1	0	0	0	1712	1348	47	4	91	4	C12orf56	12	64661051	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08	14470046	64661051	69190844	39	51141											
NUPL1	9818	broad.mit.edu	37	chr13	25875965	25875965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctccaccaccgtggcCgccggcgggaccagcacagg	6	3	15	17	4	0	0	0	0	0	0	1	1	1	1	6	5	1	2	6	5	0	0			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr13:25875965C>T	ENST00000463407.1	+	1	197	c.54C>T	c.(52-54)gcC>gcT	p.A18A	NUPL1_ENST00000381718.3_Silent_p.A18A|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381736.3_Silent_p.A18A			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	18	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CCACCGTGGCCGCCGGCGGGA	0.667													4	34					0	0	0	0	T	25875965	C	T	25875965	2	4	288	1	0	0	0	0	0	0	0	1	10845	639	23	1		1	NUPL1	13	25875965	Silent	SNP	C	TCGA-CV-7236-01A-11D-2012-08		25875965	89293913	40	51142											
GPC5	2262	broad.mit.edu	37	chr13	92346021	92346021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccggtcgttggaagaactCtcggatgcaatgcatggaac	11	9	12	9	3	1	1	0	0	1	1	4	4	2	4	1	4	4	3	1	4	4	1			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr13:92346021C>T	ENST00000377067.3	+	3	1278	c.906C>T	c.(904-906)ctC>ctT	p.L302L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	302						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGGAAGAACTCTCGGATGCAA	0.493													17	76					0	0	0	0	T	92346021	C	T	92346021	2	4	288	1	0	0	0	0	0	0	0	1	6650	900	32	2		2	GPC5	13	92346021	Silent	SNP	C	TCGA-CV-7236-01A-11D-2012-08	66470056	92346021	22823857	41	51143											
OR4N2	390429	broad.mit.edu	37	chr14	20296100	20296100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtggtcctcatcctcCgcttgcctttttgtggccca	3	14	9	15	1	1	0	1	0	0	0	5	0	5	0	6	3	1	1	6	3	0	3			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr14:20296100C>T	ENST00000315947.1	+	1	493	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	OR4N2_ENST00000568211.1_Missense_Mutation_p.R165C	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	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)		CCTCATCCTCCGCTTGCCTTT	0.517													14	239					0	0	0	0	T	20296100	C	T	20296100	3	4	288	1	0	0	0	0	1	0	0	0	11148	652	23	1	495	1	OR4N2	14	20296100	Missense_Mutation	SNP	C	TCGA-CV-7236-01A-11D-2012-08		20296100	87053440	42	51144											
MYH7	4625	broad.mit.edu	37	chr14	23891477	23891477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtcgccctccagcttccGcttcgctcgctccaggtcca	4	9	9	19	4	0	0	0	0	0	0	7	0	4	0	5	2	1	4	5	2	0	2			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr14:23891477G>A	ENST00000355349.3	-	25	3319	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1053					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		TCCAGCTTCCGCTTCGCTCGC	0.582													9	61					0	0	0	0	A	23891477	G	A	23891477	3	1	288	1	0	0	0	0	1	0	0	0	10109	1086	38	1	2714	1	MYH7	14	23891477	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08	3595377	23891477	83458063	43	51145											
PRKCH	5583	broad.mit.edu	37	chr14	61952305	61952305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtcgttttgatgaagcacGagctcgcttctatgctgcag	7	13	11	10	4	1	2	0	2	1	0	4	3	1	2	0	0	4	6	0	0	2	4			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr14:61952305G>A	ENST00000332981.5	+	10	1749	c.1364G>A	c.(1363-1365)cGa>cAa	p.R455Q	PRKCH_ENST00000555082.1_Missense_Mutation_p.R294Q	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	455	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GATGAAGCACGAGCTCGCTTC	0.433													40	215					0	0	0	0	A	61952305	G	A	61952305	3	1	288	1	0	0	0	0	1	0	0	0	12593	1058	37	1	1402	1	PRKCH	14	61952305	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08	38060828	61952305	45397235	44	51146											
ABCD4	5826	broad.mit.edu	37	chr14	74757040	74757040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaacccggagcaaggaggtCttgccagtgcccgtgttgcc	8	7	14	12	2	1	1	0	0	1	1	1	3	1	3	4	3	5	2	4	3	2	2			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr14:74757040C>T	ENST00000356924.4	-	12	1424	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Silent_p.K323K	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	427	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GCAAGGAGGTCTTGCCAGTGC	0.627											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	128					0	0	0	0	T	74757040	C	T	74757040	2	4	288	1	0	0	0	0	0	0	0	1	63	912	32	2		2	ABCD4	14	74757040	Silent	SNP	C	TCGA-CV-7236-01A-11D-2012-08	12804735	74757040	32592500	45	51147											
ATG2B	55102	broad.mit.edu	37	chr14	96829296	96829296	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcttcttgatggactcCgaaaacggccaaggcatagt	10	9	10	12	2	2	1	0	1	2	0	3	3	3	2	3	3	1	1	3	3	4	3			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr14:96829296C>G	ENST00000359933.4	-	1	911	c.18G>C	c.(16-18)tcG>tcC	p.S6S		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	6										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGATGGACTCCGAAAACGGCC	0.657													13	108					0	0	0	0	G	96829296	C	G	96829296	2	3	288	1	0	0	0	0	0	0	0	1	1098	639	23	3		3	ATG2B	14	96829296	Silent	SNP	C	TCGA-CV-7236-01A-11D-2012-08	22072256	96829296	10520244	46	51148											
CASC5	57082	broad.mit.edu	37	chr15	40954309	40954309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattctatctaaagtgccaCtggagaacaactacctgaag	14	9	7	11	0	2	2	0	1	2	1	2	3	2	2	3	1	4	0	3	1	7	4			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr15:40954309C>T	ENST00000346991.5	+	27	7342	c.6952C>T	c.(6952-6954)Ctg>Ttg	p.L2318L	CASC5_ENST00000399668.2_Silent_p.L2292L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2318					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TAAAGTGCCACTGGAGAACAA	0.433													17	84					0	0	0	0	T	40954309	C	T	40954309	2	4	288	1	0	0	0	0	0	0	0	1	2688	564	20	4		4	CASC5	15	40954309	Silent	SNP	C	TCGA-CV-7236-01A-11D-2012-08		40954309	61577083	47	51149											
ABHD2	11057	broad.mit.edu	37	chr15	89698752	89698752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaattgacctcgccacgCatgttcacctatggtaagca	11	11	8	11	2	1	2	1	2	0	0	2	2	1	2	3	1	1	4	3	1	3	5			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr15:89698752C>T	ENST00000352732.5	+	5	1045	c.525C>T	c.(523-525)cgC>cgT	p.R175R	ABHD2_ENST00000565973.1_Silent_p.R175R|ABHD2_ENST00000355100.3_Silent_p.R175R	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	175						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCTCGCCACGCATGTTCACCT	0.483													27	96					0	0	0	0	T	89698752	C	T	89698752	2	4	288	1	0	0	0	0	0	0	0	1	82	697	25	4		4	ABHD2	15	89698752	Silent	SNP	C	TCGA-CV-7236-01A-11D-2012-08	48744443	89698752	12832640	48	51150											
TP53	7157	broad.mit.edu	37	chr17	7578503	7578503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcaacccacagctgcaCagggcaggtcttggccagtt	10	7	12	12	0	2	0	1	0	1	0	2	1	2	1	2	4	3	4	2	4	2	2			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr17:7578503C>T	ENST00000420246.2	-	5	559	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	TP53_ENST00000359597.4_Missense_Mutation_p.V143M|TP53_ENST00000455263.2_Missense_Mutation_p.V143M|TP53_ENST00000413465.2_Missense_Mutation_p.V143M|TP53_ENST00000269305.4_Missense_Mutation_p.V143M|TP53_ENST00000445888.2_Missense_Mutation_p.V143M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V143M(19)|p.0?(8)|p.V143L(4)|p.V143fs*27(2)|p.V11M(1)|p.L137_W146del10(1)|p.V143fs*29(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V50M(1)|p.V143_S149del(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACAGCTGCACAGGGCAGGTC	0.587		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	46					0	0	0	0	T	7578503	C	T	7578503	3	4	288	1	0	0	0	0	1	0	0	0	16476	478	17	4	871	4	TP53	17	7578503	Missense_Mutation	SNP	C	TCGA-CV-7236-01A-11D-2012-08		7578503	73616707	49	51151											
GRIN2C	2905	broad.mit.edu	37	chr17	72851194	72851194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcccaggcaccgaagagcGaggtgagcaacagggccggc	10	2	16	13	3	0	2	0	1	0	1	0	4	0	2	3	4	4	2	3	4	2	0			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr17:72851194G>A	ENST00000293190.5	-	2	184	c.38C>T	c.(37-39)tCg>tTg	p.S13L	GRIN2C_ENST00000347612.4_Missense_Mutation_p.S13L|GRIN2C_ENST00000578159.1_Intron	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	13					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ACCGAAGAGCGAGGTGAGCAA	0.682													12	35					0	0	0	0	A	72851194	G	A	72851194	3	1	288	1	0	0	0	0	1	0	0	0	6831	1059	37	1	3711	1	GRIN2C	17	72851194	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08	65272691	72851194	8344016	50	51152											
NETO1	81832	broad.mit.edu	37	chr18	70532113	70532113	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagaggtaaagataccTccctctgcatgttttgtcca	9	13	10	9	0	1	2	0	0	1	2	3	3	3	2	3	2	2	3	3	2	3	5			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr18:70532113T>C	ENST00000327305.6	-	3	807	c.150A>G	c.(148-150)ggA>ggG	p.G50G	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000583169.1_Silent_p.G50G|NETO1_ENST00000397929.1_Silent_p.G49G|NETO1_ENST00000299430.2_Silent_p.G49G	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	50	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TAAAGATACCTCCCTCTGCAT	0.423													8	40					0	0	0	0	C	70532113	T	C	70532113	2	2	288	1	0	0	0	0	0	0	0	1	10409	1538	54	5		5	NETO1	18	70532113	Silent	SNP	T	TCGA-CV-7236-01A-11D-2012-08		70532113	7545135	51	51153											
MED16	10025	broad.mit.edu	37	chr19	873494	873494	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacagcacgaagtcgcccacCcactgcaagagctgctgcag	11	5	10	15	2	0	1	0	0	0	1	1	2	0	1	2	0	6	5	2	0	3	1			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:873494C>G	ENST00000312090.6	-	11	2010	c.1860G>C	c.(1858-1860)tgG>tgC	p.W620C	MED16_ENST00000395808.3_Missense_Mutation_p.W620C|MED16_ENST00000589119.1_Missense_Mutation_p.W620C|MED16_ENST00000325464.1_Missense_Mutation_p.W620C|MED16_ENST00000269814.4_Missense_Mutation_p.W620C			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	620					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		AGTCGCCCACCCACTGCAAGA	0.597													4	84					0	0	0	0	G	873494	C	G	873494	3	3	288	1	0	0	0	0	1	0	0	0	9503	624	22	4	797	4	MED16	19	873494	Missense_Mutation	SNP	C	TCGA-CV-7236-01A-11D-2012-08		873494	58255489	52	51154											
BEST2	54831	broad.mit.edu	37	chr19	12866479	12866479	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggcttgcctcattggtcgCcagttcctggacccggctca	4	11	11	15	2	2	0	2	0	0	0	4	1	3	1	4	4	1	3	4	4	0	3			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:12866479C>T	ENST00000549706.1	+	7	1089	c.765C>T	c.(763-765)cgC>cgT	p.R255R	BEST2_ENST00000042931.1_Silent_p.R255R|BEST2_ENST00000553030.1_Silent_p.R255R			Q8NFU1	BEST2_HUMAN	bestrophin 2	255					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TCATTGGTCGCCAGTTCCTGG	0.607													16	88					0	0	0	0	T	12866479	C	T	12866479	2	4	288	1	0	0	0	0	0	0	0	1	1409	726	26	4		4	BEST2	19	12866479	Silent	SNP	C	TCGA-CV-7236-01A-11D-2012-08	11992985	12866479	46262504	53	51155											
MEGF8	1954	broad.mit.edu	37	chr19	42847639	42847639	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcccctaggccgagcagcGcctcccagtggtcggtactc	6	8	11	16	3	0	0	0	0	0	0	4	1	2	0	5	3	3	2	5	3	2	3			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:42847639G>A	ENST00000334370.4	+	9	2159	c.1524G>A	c.(1522-1524)gcG>gcA	p.A508A	MEGF8_ENST00000251268.6_Silent_p.A508A	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	508						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCGAGCAGCGCCTCCCAGTG	0.642													7	59					0	0	0	0	A	42847639	G	A	42847639	2	1	288	1	0	0	0	0	0	0	0	1	9532	1074	38	1		1	MEGF8	19	42847639	Silent	SNP	G	TCGA-CV-7236-01A-11D-2012-08	29981160	42847639	16281344	54	51156											
LIPE	3991	broad.mit.edu	37	chr19	42914528	42914528	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactcccggaggaagtcggcGgtgagcccctcgtcgccctc	5	7	13	16	5	0	1	0	1	0	0	5	3	1	3	4	4	2	0	4	4	2	1	rs151324837	byFrequency	TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:42914528G>C	ENST00000244289.4	-	2	1626	c.1350C>G	c.(1348-1350)acC>acG	p.T450T	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_Intron	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	450					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)				GGAAGTCGGCGGTGAGCCCCT	0.667													3	26					0	0	0	0	C	42914528	G	C	42914528	2	2	288	1	0	0	0	0	0	0	0	1	8876	1103	39	3		3	LIPE	19	42914528	Silent	SNP	G	TCGA-CV-7236-01A-11D-2012-08	66889	42914528	16214455	55	51157											
MARK4	57787	broad.mit.edu	37	chr19	45762439	45762439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctcggcacatcctcactGgtcgggaggtgagtatgggc	6	9	16	10	2	1	1	1	1	0	0	4	2	2	2	1	6	0	3	1	6	1	1			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:45762439G>A	ENST00000300843.4	+	2	541	c.244G>A	c.(244-246)Ggt>Agt	p.G82S	MARK4_ENST00000262891.4_Missense_Mutation_p.G82S	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	82	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CATCCTCACTGGTCGGGAGGT	0.617													3	27					0	0	0	0	A	45762439	G	A	45762439	3	1	288	1	0	0	0	0	1	0	0	0	9384	1348	47	4	250	4	MARK4	19	45762439	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08	2847911	45762439	13366544	56	51158											
MYH14	79784	broad.mit.edu	37	chr19	50805052	50805052	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggatgctggggcccgtgcCcgccacaagatgaccattgc	8	6	14	13	2	0	2	0	1	0	1	0	4	0	3	4	3	3	1	4	3	1	1			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:50805052C>T	ENST00000440075.2	+	40	5651	c.5604C>T	c.(5602-5604)gcC>gcT	p.A1868A	MYH14_ENST00000425460.1_Silent_p.A1835A|MYH14_ENST00000376970.2_Silent_p.A1860A|MYH14_ENST00000262269.8_Silent_p.A1868A|MYH14_ENST00000601313.1_Silent_p.A1868A|MYH14_ENST00000598205.1_Silent_p.A1835A|MYH14_ENST00000596571.1_Silent_p.A1827A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1827					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGGCCCGTGCCCGCCACAAGA	0.637													6	33					0	0	0	0	T	50805052	C	T	50805052	2	4	288	1	0	0	0	0	0	0	0	1	10103	610	22	4		4	MYH14	19	50805052	Silent	SNP	C	TCGA-CV-7236-01A-11D-2012-08	5042613	50805052	8323931	57	51159											
DNMT3B	1789	broad.mit.edu	37	chr20	31385069	31385069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgtgctgcgagggccGagagctgctgctttgcagca	6	9	15	11	2	0	1	0	0	0	1	0	3	0	1	1	1	7	6	1	1	0	1			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr20:31385069G>T	ENST00000328111.2	+	14	1775	c.1454G>T	c.(1453-1455)cGa>cTa	p.R485L	DNMT3B_ENST00000344505.4_Missense_Mutation_p.R465L|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R477L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R465L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R465L|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R423L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R389L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	485	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCGAGGGCCGAGAGCTGCTG	0.587													16	117					1.3612e-06	1.72152e-06	1	0	T	31385069	G	T	31385069	3	4	288	1	0	0	0	0	1	0	0	0	4713	1058	37	3	1544	3	DNMT3B	20	31385069	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08		31385069	31640451	58	51160											
ZMYND8	23613	broad.mit.edu	37	chr20	45839455	45839455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgggaggaggctcttcGtgctggtactggtgttgtga	4	14	16	7	2	1	1	0	1	1	0	3	3	1	3	0	5	2	4	0	5	1	4	rs146133202		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr20:45839455G>A	ENST00000311275.7	-	22	3765	c.3512C>T	c.(3511-3513)aCg>aTg	p.T1171M	ZMYND8_ENST00000355972.4_Missense_Mutation_p.T1199M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.T1153M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.T1219M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.T1173M|ZMYND8_ENST00000540497.1_Missense_Mutation_p.T1119M|ZMYND8_ENST00000536340.1_Missense_Mutation_p.T1226M|ZMYND8_ENST00000396281.4_Missense_Mutation_p.T1171M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.T1121M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.T1120M|ZMYND8_ENST00000458360.2_Missense_Mutation_p.T1039M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.T1090M|ZMYND8_ENST00000352431.2_Missense_Mutation_p.T1145M			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1171	Interacts with PRKCB1.						protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GAGGCTCTTCGTGCTGGTACT	0.542													10	89					0	0	0	0	A	45839455	G	A	45839455	3	1	288	1	0	0	0	0	1	0	0	0	17806	1145	40	1	52	1	ZMYND8	20	45839455	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08	14454386	45839455	17186065	59	51161											
HIC2	23119	broad.mit.edu	37	chr22	21799898	21799898	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcaccaacgggagcagCgggggctgcgagcaggagct	10	2	18	11	3	0	0	0	0	0	0	0	3	0	2	1	4	8	6	1	4	1	0			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr22:21799898C>T	ENST00000443632.2	+	2	1086	c.714C>T	c.(712-714)agC>agT	p.S238S	HIC2_ENST00000407598.2_Silent_p.S238S|HIC2_ENST00000407464.2_Silent_p.S238S			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	238					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACGGGAGCAGCGGGGGCTGCG	0.697													6	34					0	0	0	0	T	21799898	C	T	21799898	2	4	288	1	0	0	0	0	0	0	0	1	7152	767	27	1		1	HIC2	22	21799898	Silent	SNP	C	TCGA-CV-7236-01A-11D-2012-08		21799898	29504668	60	51162											
WNK3	65267	broad.mit.edu	37	chrX	54263432	54263434	+	In_Frame_Del	DEL	CAC	CAC	-																															ctctatttctgattcatcatCactgctcattggggaagatg																										TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chrX:54263432_54263434delCAC	ENST00000354646.2	-	20	5003_5005	c.4565_4567delGTG	c.(4564-4569)aat>a	p.SD1522del	WNK3_ENST00000375159.2_In_Frame_Del_p.SD1522del|WNK3_ENST00000375169.3_In_Frame_Del_p.SD1475del	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1475					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GATTCATCATCACTGCTCATTGG	0.433													34	240	---	---	---	---					-	54263434	CAC	-	54263432	7	5	288	1	0	1	0	1	0	0	0	0	17475	826	29	0	855	0	WNK3	23	54263432	In_Frame_Del	DEL	CAC	TCGA-CV-7236-01A-11D-2012-08		54263432	101007128	61	51163											
P2RY10	27334	broad.mit.edu	37	chrX	78217018	78217018	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcatgagcaaggagagtgGttcatcaatgattggctaaa	13	10	11	7	0	3	3	3	2	0	1	3	4	3	3	1	3	1	3	1	3	4	3			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chrX:78217018G>C	ENST00000171757.2	+	4	1281	c.1001G>C	c.(1000-1002)gGt>gCt	p.G334A	P2RY10_ENST00000544091.1_Missense_Mutation_p.G334A	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	334						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AAGGAGAGTGGTTCATCAATG	0.418													18	133					0	0	0	0	C	78217018	G	C	78217018	3	2	288	1	0	0	0	0	1	0	0	0	11418	1261	44	4	1003	4	P2RY10	23	78217018	Missense_Mutation	SNP	G	TCGA-CV-7236-01A-11D-2012-08	23953586	78217018	77053542	62	51164											
MASP2	10747	broad.mit.edu	37	chr1	11087433	11087433	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaaagccagcatcatgagTataaccttcatgtataaaaa	17	10	6	8	0	3	1	3	1	0	0	3	1	3	1	2	0	3	3	2	0	7	5			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:11087433T>C	ENST00000400897.3	-	11	1585	c.1570A>G	c.(1570-1572)Act>Gct	p.T524A		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	524	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCATCATGAGTATAACCTTCA	0.398													15	154					0	0	0	0	C	11087433	T	C	11087433	3	2	289	1	0	0	0	0	1	0	0	0	9392	1638	57	5	494	5	MASP2	1	11087433	Missense_Mutation	SNP	T	TCGA-CV-7238-01A-11D-2012-08		11087433	238163188	1	51165											
PTCHD2	57540	broad.mit.edu	37	chr1	11580836	11580836	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcttccggcctgataccAacatccaggtgctgctggac	8	10	9	14	1	1	1	0	1	1	0	3	2	3	2	4	3	5	2	4	3	3	3			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:11580836A>G	ENST00000294484.6	+	10	2431	c.2293A>G	c.(2293-2295)Aac>Gac	p.N765D	PTCHD2_ENST00000389575.3_Missense_Mutation_p.N765D	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	765					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCTGATACCAACATCCAGGT	0.642													3	20					0	0	0	0	G	11580836	A	G	11580836	3	3	289	1	0	0	0	0	1	0	0	0	12812	130	5	5	2327	5	PTCHD2	1	11580836	Missense_Mutation	SNP	A	TCGA-CV-7238-01A-11D-2012-08	493403	11580836	237669785	2	51166											
ARID1A	8289	broad.mit.edu	37	chr1	27100152	27100152	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccttccaacccagactcGgggatgtattctcctagccg	8	10	9	14	2	1	1	0	0	1	1	4	2	2	2	5	2	3	1	5	2	3	4			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:27100152G>A	ENST00000324856.7	+	16	4319	c.3948G>A	c.(3946-3948)tcG>tcA	p.S1316S	ARID1A_ENST00000374152.2_Silent_p.S933S|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Silent_p.S1316S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1316					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.M1318fs*163(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCCAGACTCGGGGATGTATT	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								11	52					0	0	0	0	A	27100152	G	A	27100152	2	1	289	1	0	0	0	0	0	0	0	1	915	1103	39	1		1	ARID1A	1	27100152	Silent	SNP	G	TCGA-CV-7238-01A-11D-2012-08	15519316	27100152	222150469	3	51167											
CSF3R	1441	broad.mit.edu	37	chr1	36937036	36937036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgccagccccctttacctCtgctttctgagaagaccacc	7	10	7	17	0	2	2	0	1	2	2	2	3	2	2	6	0	4	2	6	0	2	3			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:36937036C>T	ENST00000373103.1	-	10	1830	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K	CSF3R_ENST00000361632.4_Missense_Mutation_p.R428K|CSF3R_ENST00000373106.1_Missense_Mutation_p.R428K|CSF3R_ENST00000331941.5_Missense_Mutation_p.R428K|CSF3R_ENST00000373104.1_Missense_Mutation_p.R428K|CSF3R_ENST00000440588.2_Missense_Mutation_p.R428K|CSF3R_ENST00000418048.2_Missense_Mutation_p.R428K|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Missense_Mutation_p.R428K	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	428					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCCTTTACCTCTGCTTTCTGA	0.577													15	146					0	0	0	0	T	36937036	C	T	36937036	3	4	289	1	0	0	0	0	1	0	0	0	3969	913	32	2	1449	2	CSF3R	1	36937036	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08	9836884	36937036	212313585	4	51168											
ZNHIT6	54680	broad.mit.edu	37	chr1	86173364	86173364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggtgatttatcggaggctCttctttcacctttgtatcat	6	17	9	9	2	4	1	2	1	2	0	5	2	4	2	1	3	0	2	1	3	2	6			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:86173364C>T	ENST00000431532.2	-	2	635	c.487G>A	c.(487-489)Gag>Aag	p.E163K	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.E202K	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	202	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ATCGGAGGCTCTTCTTTCACC	0.463													8	153					0	0	0	0	T	86173364	C	T	86173364	3	4	289	1	0	0	0	0	1	0	0	0	18302	922	32	2	848	2	ZNHIT6	1	86173364	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08	49236328	86173364	163077257	5	51169											
RPRD2	23248	broad.mit.edu	37	chr1	150416840	150416840	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtgcagcacagaaactctCaaatgcttaaaaggtaatgc	15	9	9	8	0	1	1	1	0	1	1	2	1	1	1	0	1	5	4	0	1	5	2			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:150416840C>G	ENST00000401000.4	+	5	668	c.603C>G	c.(601-603)ctC>ctG	p.L201L	RPRD2_ENST00000369068.4_Silent_p.L227L|RPRD2_ENST00000539519.1_Silent_p.L201L|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	227							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAGAAACTCTCAAATGCTTAA	0.383													3	60					0	0	0	0	G	150416840	C	G	150416840	2	3	289	1	0	0	0	0	0	0	0	1	13702	813	29	2		2	RPRD2	1	150416840	Silent	SNP	C	TCGA-CV-7238-01A-11D-2012-08	64243476	150416840	98833781	6	51170											
C2orf16	84226	broad.mit.edu	37	chr2	27801709	27801709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaggactttgggattctgGgatacaggaagtatccagag	12	9	15	5	0	1	1	0	0	1	1	2	6	2	6	1	5	1	1	1	5	3	4			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr2:27801709G>A	ENST00000408964.2	+	1	2321	c.2270G>A	c.(2269-2271)gGg>gAg	p.G757E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	757										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGGGATTCTGGGATACAGGAA	0.418													11	144					0	0	0	0	A	27801709	G	A	27801709	3	1	289	1	0	0	0	0	1	0	0	0	2177	1232	43	4	2272	4	C2orf16	2	27801709	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08		27801709	215397664	7	51171											
SCN9A	6335	broad.mit.edu	37	chr2	167142859	167142859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtacctgattgggggtaGacaacctcttttcatgtgct	7	14	12	8	0	2	2	1	1	1	1	2	2	2	2	2	3	3	3	2	3	3	5			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr2:167142859G>A	ENST00000303354.6	-	11	1932	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.S530F|SCN9A_ENST00000375387.4_Missense_Mutation_p.S531F|SCN9A_ENST00000409435.1_Missense_Mutation_p.S530F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	530						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATTGGGGGTAGACAACCTCTT	0.448													23	277					0	0	0	0	A	167142859	G	A	167142859	3	1	289	1	0	0	0	0	1	0	0	0	14012	942	33	2	4412	2	SCN9A	2	167142859	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08	139341150	167142859	76056514	8	51172											
CASP10	843	broad.mit.edu	37	chr2	202093772	202093772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctctgcgcagacacctcGaccccccatgcgcaggtgga	8	6	10	17	3	1	1	0	0	1	1	3	3	1	2	4	2	2	2	4	2	0	0	rs151011448		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr2:202093772G>A	ENST00000272879.5	+	10	1716	c.1532G>A	c.(1531-1533)cGa>cAa	p.R511Q	CASP10_ENST00000448480.1_Missense_Mutation_p.R468Q	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	511					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CAGACACCTCGACCCCCCATG	0.567													11	147					0	0	0	0	A	202093772	G	A	202093772	3	1	289	1	0	0	0	0	1	0	0	0	2694	1058	37	1	1724	1	CASP10	2	202093772	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08	34950913	202093772	41105601	9	51173											
CADPS	8618	broad.mit.edu	37	chr3	62578331	62578331	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcccaagctccttgtccTccaacgccaggacgcctgtg	6	7	9	19	3	0	0	0	0	0	0	3	1	3	1	7	1	2	1	7	1	2	1			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:62578331T>C	ENST00000383710.4	-	7	1767	c.1418A>G	c.(1417-1419)gAg>gGg	p.E473G	CADPS_ENST00000357948.3_Missense_Mutation_p.E473G|CADPS_ENST00000283269.9_Missense_Mutation_p.E473G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	473	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTCCTTGTCCTCCAACGCCAG	0.582													3	86					0	0	0	0	C	62578331	T	C	62578331	3	2	289	1	0	0	0	0	1	0	0	0	2595	1551	54	5	2812	5	CADPS	3	62578331	Missense_Mutation	SNP	T	TCGA-CV-7238-01A-11D-2012-08		62578331	135444099	10	51174											
ADAMTS9	56999	broad.mit.edu	37	chr3	64582598	64582598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctccacacagtcgtttgCggtgtatccattttcatcct	6	16	6	13	2	2	0	1	0	1	0	7	0	5	0	3	1	1	2	3	1	1	4			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:64582598C>T	ENST00000498707.1	-	27	4429	c.4087G>A	c.(4087-4089)Gca>Aca	p.A1363T	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1335T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1363	TSP type-1 9.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGTCGTTTGCGGTGTATCCA	0.507													12	69					0	0	0	0	T	64582598	C	T	64582598	3	4	289	1	0	0	0	0	1	0	0	0	273	768	27	1	1772	1	ADAMTS9	3	64582598	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08	2004267	64582598	133439832	11	51175											
CNTN3	5067	broad.mit.edu	37	chr3	74350658	74350658	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccatgggtttaactcaacTacagtggctgtgtgcgtctt	8	13	10	10	1	2	0	1	0	1	0	2	0	2	0	1	2	4	2	1	2	3	4			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:74350658T>A	ENST00000263665.6	-	15	2013	c.1986A>T	c.(1984-1986)gtA>gtT	p.V662V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	662	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTAACTCAACTACAGTGGCTG	0.433													8	76					0	0	0	0	A	74350658	T	A	74350658	2	1	289	1	0	0	0	0	0	0	0	1	3672	1509	53	5		5	CNTN3	3	74350658	Silent	SNP	T	TCGA-CV-7238-01A-11D-2012-08	9768060	74350658	123671772	12	51176											
TRH	7200	broad.mit.edu	37	chr3	129695951	129695951	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagcctatggtcaagcgggCcttctgctggggctcctgga	5	9	16	11	1	2	0	1	0	1	0	3	2	3	2	3	6	3	2	3	6	2	2			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:129695951C>T	ENST00000302649.3	+	3	1148	c.621C>T	c.(619-621)ggC>ggT	p.G207G	TRH_ENST00000507066.1_Silent_p.G203G	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	207					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						GTCAAGCGGGCCTTCTGCTGG	0.657													6	37					0	0	0	0	T	129695951	C	T	129695951	2	4	289	1	0	0	0	0	0	0	0	1	16573	726	26	4		4	TRH	3	129695951	Silent	SNP	C	TCGA-CV-7238-01A-11D-2012-08	55345293	129695951	68326479	13	51177											
COL6A6	131873	broad.mit.edu	37	chr3	130281957	130281957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtggacagctctgatcGcctgggatccaagtccttcc	6	12	11	12	1	1	1	0	1	1	0	5	3	4	3	4	3	1	1	4	3	1	2			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:130281957G>A	ENST00000358511.6	+	2	141	c.110G>A	c.(109-111)cGc>cAc	p.R37H	COL6A6_ENST00000453409.2_Missense_Mutation_p.R37H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	37	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGCTCTGATCGCCTGGGATCC	0.458													14	180					0	0	0	0	A	130281957	G	A	130281957	3	1	289	1	0	0	0	0	1	0	0	0	3733	1087	38	1	116	1	COL6A6	3	130281957	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08	586006	130281957	67740473	14	51178											
COPB2	9276	broad.mit.edu	37	chr3	139078167	139078167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcagcttctggcagccGtccagttctaattaagagct	10	10	11	10	1	2	1	0	0	2	1	3	2	3	1	2	2	3	5	2	2	3	4			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:139078167G>A	ENST00000333188.5	-	18	2429	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	COPB2_ENST00000507777.1_Missense_Mutation_p.R721W	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	750					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TCTGGCAGCCGTCCAGTTCTA	0.393													15	113					0	0	0	0	A	139078167	G	A	139078167	3	1	289	1	0	0	0	0	1	0	0	0	3759	1144	40	1	492	1	COPB2	3	139078167	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08	8796210	139078167	58944263	15	51179											
GFM1	85476	broad.mit.edu	37	chr3	158402350	158402350	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgagaagggccctctttctgGtcacaagctctctgggctcc	6	10	11	14	1	4	1	1	0	3	1	6	2	5	1	2	3	1	2	2	3	2	1			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:158402350G>C	ENST00000486715.1	+	15	2159	c.1802G>C	c.(1801-1803)gGt>gCt	p.G601A	GFM1_ENST00000264263.5_Missense_Mutation_p.G620A	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	601					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CCTCTTTCTGGTCACAAGCTC	0.458													11	80					0	0	0	0	C	158402350	G	C	158402350	3	2	289	1	0	0	0	0	1	0	0	0	6392	1261	44	4	1860	4	GFM1	3	158402350	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08	19324183	158402350	39620080	16	51180											
KIAA0226	9711	broad.mit.edu	37	chr3	197402348	197402348	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatgatgtcatcctcattCtgacagaactcacagatgaa	15	10	7	9	0	4	6	3	3	1	3	5	6	5	6	1	0	1	0	1	0	3	1			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:197402348C>T	ENST00000273582.5	-	20	3095	c.2550G>A	c.(2548-2550)caG>caA	p.Q850Q	KIAA0226_ENST00000296343.5_Silent_p.Q895Q	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	895					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)		CATCCTCATTCTGACAGAACT	0.547													21	188					0	0	0	0	T	197402348	C	T	197402348	2	4	289	1	0	0	0	0	0	0	0	1	8213	912	32	2		2	KIAA0226	3	197402348	Silent	SNP	C	TCGA-CV-7238-01A-11D-2012-08	38999998	197402348	620082	17	51181											
MRPS18C	51023	broad.mit.edu	37	chr4	84382282	84382282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctctttacagggtttatgCcagttacatacaaggatcct	11	14	7	9	0	1	0	0	0	1	0	3	1	2	1	2	2	4	2	2	2	5	6			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr4:84382282C>T	ENST00000295491.4	+	6	474	c.361C>T	c.(361-363)Cca>Tca	p.P121S	MRPS18C_ENST00000507019.1_Missense_Mutation_p.P93S|MRPS18C_ENST00000507349.1_3'UTR|FAM175A_ENST00000321945.7_3'UTR	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	121					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				AGGGTTTATGCCAGTTACATA	0.333													5	124					0	0	0	0	T	84382282	C	T	84382282	3	4	289	1	0	0	0	0	1	0	0	0	9900	739	26	4	383	4	MRPS18C	4	84382282	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08		84382282	106771994	18	51182											
NEK1	4750	broad.mit.edu	37	chr4	170523716	170523716	+	Frame_Shift_Del	DEL	T	T	-																															tgtctgccatcttctgtagaTttaacaagaatggcttttcc																										TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr4:170523716delT	ENST00000439128.2	-	2	706	c.66delA	c.(64-66)aafs	p.K22fs	NEK1_ENST00000510533.1_Frame_Shift_Del_p.K22fs|NEK1_ENST00000511633.1_Frame_Shift_Del_p.K22fs|NEK1_ENST00000512193.1_Frame_Shift_Del_p.K22fs|NEK1_ENST00000507142.1_Frame_Shift_Del_p.K22fs	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	22	Protein kinase.				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CTTCTGTAGATTTAACAAGAA	0.318													22	165	---	---	---	---					-	170523716	T	-	170523716	7	5	289	1	0	1	0	1	0	0	0	0	10391	1490	52	0	3842	0	NEK1	4	170523716	Frame_Shift_Del	DEL	T	TCGA-CV-7238-01A-11D-2012-08	86141434	170523716	20630560	19	51183											
SORBS2	8470	broad.mit.edu	37	chr4	186545502	186545502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccgggccatttgccagcCgttcttgaaactaatggctc	7	12	10	12	2	1	1	0	1	1	0	2	1	1	1	4	2	4	2	4	2	2	5			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr4:186545502C>T	ENST00000431808.1	-	14	1632	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S	SORBS2_ENST00000418609.1_Missense_Mutation_p.G261S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.G457S|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.G357S|SORBS2_ENST00000437304.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	357						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.G357S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATTTGCCAGCCGTTCTTGAAA	0.517													5	71					0	0	0	0	T	186545502	C	T	186545502	3	4	289	1	0	0	0	0	1	0	0	0	15016	652	23	1	2269	1	SORBS2	4	186545502	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08	16021786	186545502	4608774	20	51184											
FYB	2533	broad.mit.edu	37	chr5	39134377	39134377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcttcaataggtcttgaagGggcaccaagagagtcttttt	11	13	10	7	0	4	2	1	1	3	1	4	3	4	2	1	3	0	1	1	3	4	5			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:39134377G>T	ENST00000351578.6	-	9	1940	c.1750C>A	c.(1750-1752)Cct>Act	p.P584T	FYB_ENST00000515010.1_Missense_Mutation_p.P584T|FYB_ENST00000505428.1_Missense_Mutation_p.P584T|FYB_ENST00000540520.1_Missense_Mutation_p.P594T|FYB_ENST00000512982.1_Missense_Mutation_p.P584T	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	584					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GGTCTTGAAGGGGCACCAAGA	0.358													20	142					2.27731e-05	0.000342363	1	0	T	39134377	G	T	39134377	3	4	289	1	0	0	0	0	1	0	0	0	6172	1232	43	4	783	4	FYB	5	39134377	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08		39134377	141780883	21	51185											
SPATA9	83890	broad.mit.edu	37	chr5	95018550	95018550	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catatccacccaacaggtttGattggcatggtgagttcttg	9	13	10	9	0	1	2	0	2	1	0	2	2	2	2	2	3	1	3	2	3	2	5			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:95018550G>C	ENST00000274432.8	-	1	150	c.9C>G	c.(7-9)atC>atG	p.I3M	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.I3M	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	3					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CAACAGGTTTGATTGGCATGG	0.463													7	60					0	0	0	0	C	95018550	G	C	95018550	3	2	289	1	0	0	0	0	1	0	0	0	15106	1280	45	2	775	2	SPATA9	5	95018550	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08	55884173	95018550	85896710	22	51186											
C5orf30	90355	broad.mit.edu	37	chr5	102612013	102612013	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcgaaggcggatgccAagctcaggagacaagtgcac	13	3	16	9	2	1	1	1	0	0	1	1	5	1	3	1	5	3	2	1	5	3	0			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:102612013A>G	ENST00000319933.2	+	3	701	c.393A>G	c.(391-393)ccA>ccG	p.P131P	C5orf30_ENST00000510890.1_Silent_p.P131P|C5orf30_ENST00000515669.1_Silent_p.P131P	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	131										NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		GGCGGATGCCAAGCTCAGGAG	0.498													3	46					0	0	0	0	G	102612013	A	G	102612013	2	3	289	1	0	0	0	0	0	0	0	1	2311	117	5	5		5	C5orf30	5	102612013	Silent	SNP	A	TCGA-CV-7238-01A-11D-2012-08	7593463	102612013	78303247	23	51187											
FAT2	2196	broad.mit.edu	37	chr5	150924339	150924339	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaagataggggtcaattcGgaaatatgtgtaatcttctg	12	12	10	7	1	3	1	1	0	2	1	4	2	3	2	1	3	0	1	1	3	6	5			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:150924339G>A	ENST00000261800.5	-	9	6361	c.6349C>T	c.(6349-6351)Cga>Tga	p.R2117*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2117	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.R2117*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCAATTCGGAAATATGTG	0.428													10	114					0	0	0	0	A	150924339	G	A	150924339	4	1	289	1	0	0	0	0	0	1	0	0	5735	1124	39	1	6760	1	FAT2	5	150924339	Nonsense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08	48312326	150924339	29990921	24	51188											
STK10	6793	broad.mit.edu	37	chr5	171520515	171520515	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagaggctgctgcagtcCgagtccctcttggaaggccc	6	8	14	13	1	1	1	0	0	1	1	3	3	3	2	3	3	3	4	3	3	1	1			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:171520515C>T	ENST00000176763.5	-	9	1798	c.1455G>A	c.(1453-1455)tcG>tcA	p.S485S	STK10_ENST00000517775.1_5'UTR	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	485							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCTGCAGTCCGAGTCCCTCT	0.607													13	134					0	0	0	0	T	171520515	C	T	171520515	2	4	289	1	0	0	0	0	0	0	0	1	15376	639	23	1		1	STK10	5	171520515	Silent	SNP	C	TCGA-CV-7238-01A-11D-2012-08	20596176	171520515	9394745	25	51189											
KIAA0319	9856	broad.mit.edu	37	chr6	24596202	24596202	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcggcaagggaagcaacaCacttctctcagggagttttg	11	9	12	9	1	2	0	1	0	1	0	4	2	2	2	0	3	2	3	0	3	3	3			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:24596202C>G	ENST00000535378.1	-	4	1315	c.673G>C	c.(673-675)Gtg>Ctg	p.V225L	KIAA0319_ENST00000543707.1_Missense_Mutation_p.V234L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.V234L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.V234L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.V189L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	234					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GGAAGCAACACACTTCTCTCA	0.542													3	69					0	0	0	0	G	24596202	C	G	24596202	3	3	289	1	0	0	0	0	1	0	0	0	8219	478	17	4	2594	4	KIAA0319	6	24596202	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08		24596202	146518865	26	51190											
TNXB	7148	broad.mit.edu	37	chr6	32032668	32032668	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtacaggttcatcttgtaCttgtggtctggctccaggcc	5	13	11	12	1	3	0	1	0	2	0	4	0	4	0	3	4	2	4	3	4	2	5			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:32032668C>T	ENST00000375244.3	-	19	6972	c.6771G>A	c.(6769-6771)aaG>aaA	p.K2257K	TNXB_ENST00000375247.2_Silent_p.K2257K			P22105	TENX_HUMAN	tenascin XB	2329					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCATCTTGTACTTGTGGTCTG	0.627													4	38					0	0	0	0	T	32032668	C	T	32032668	2	4	289	1	0	0	0	0	0	0	0	1	16440	564	20	4		4	TNXB	6	32032668	Silent	SNP	C	TCGA-CV-7238-01A-11D-2012-08	7436466	32032668	139082399	27	51191											
PKHD1	5314	broad.mit.edu	37	chr6	51920457	51920457	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaaggtgtcgaggctgacgGaggctgaacctgccacagaa	12	5	14	10	2	0	3	0	2	0	1	1	5	0	4	2	4	2	2	2	4	3	0			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:51920457G>A	ENST00000371117.3	-	19	2039	c.1764C>T	c.(1762-1764)ctC>ctT	p.L588L	PKHD1_ENST00000340994.4_Silent_p.L588L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	588					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGCTGACGGAGGCTGAACC	0.552													4	49					0	0	0	0	A	51920457	G	A	51920457	2	1	289	1	0	0	0	0	0	0	0	1	12043	1161	41	2		2	PKHD1	6	51920457	Silent	SNP	G	TCGA-CV-7238-01A-11D-2012-08	19887789	51920457	119194610	28	51192											
LAMA2	3908	broad.mit.edu	37	chr6	129641784	129641784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattgtcccctgggctattCtggcctgtcctgtgaggtaa	5	14	12	10	0	1	2	0	2	1	0	3	2	3	2	4	3	0	2	4	3	2	4			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:129641784C>T	ENST00000421865.2	+	28	4209	c.4160C>T	c.(4159-4161)tCt>tTt	p.S1387F		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1387	Laminin EGF-like 14; second part.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGGGCTATTCTGGCCTGTCC	0.443													4	31					0	0	0	0	T	129641784	C	T	129641784	3	4	289	1	0	0	0	0	1	0	0	0	8659	913	32	2	4270	2	LAMA2	6	129641784	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08	77721327	129641784	41473283	29	51193											
BBS9	27241	broad.mit.edu	37	chr7	33185888	33185888	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttatttaaagcccgtgaTtggtggtctactattctggg	7	17	10	7	1	3	1	0	1	3	0	3	1	3	1	1	3	2	0	1	3	5	8			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:33185888T>C	ENST00000242067.6	+	2	545	c.24T>C	c.(22-24)gaT>gaC	p.D8D	BBS9_ENST00000425508.2_5'UTR|BBS9_ENST00000396127.2_Silent_p.D8D|BBS9_ENST00000354265.4_Silent_p.D8D|BBS9_ENST00000350941.3_Silent_p.D8D|BBS9_ENST00000482941.1_3'UTR|BBS9_ENST00000355070.2_Silent_p.D8D	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	8					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AAGCCCGTGATTGGTGGTCTA	0.323									Bardet-Biedl syndrome				7	56					0	0	0	0	C	33185888	T	C	33185888	2	2	289	1	0	0	0	0	0	0	0	1	1346	1490	52	5		5	BBS9	7	33185888	Silent	SNP	T	TCGA-CV-7238-01A-11D-2012-08		33185888	125952775	30	51194											
ADCY1	107	broad.mit.edu	37	chr7	45717468	45717468	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttccatgatggctccagCggagggcattaagaacagcc	11	9	11	10	1	0	2	0	1	0	1	2	3	2	3	3	3	3	2	3	3	3	3	rs143601874		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:45717468C>T	ENST00000297323.7	+	9	1628	c.1605_splice	c.e9-1	p.R536_splice		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	536					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.R536W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ATGGCTCCAGCGGAGGGCATT	0.502													11	82					0	0	0	0	T	45717468	C	T	45717468	5	4	289	1	0	0	0	0	0	0	1	0	292	782	27	1	1640	1	ADCY1	7	45717468	Splice_Site	SNP	C	TCGA-CV-7238-01A-11D-2012-08	12531580	45717468	113421195	31	51195											
C7orf63	79846	broad.mit.edu	37	chr7	89915641	89915641	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaatgaaaaggaagaagcCattgttttggaaatccagtc	15	10	9	7	0	0	2	0	1	0	1	2	4	1	4	3	2	1	1	3	2	6	4			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:89915641C>G	ENST00000389297.4	+	14	1835	c.1584C>G	c.(1582-1584)gcC>gcG	p.A528A	C7orf63_ENST00000316089.8_Silent_p.A528A|C7orf63_ENST00000497910.1_Silent_p.A510A	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	528							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AGGAAGAAGCCATTGTTTTGG	0.318													5	52					0	0	0	0	G	89915641	C	G	89915641	2	3	289	1	0	0	0	0	0	0	0	1	2432	581	21	4		4	C7orf63	7	89915641	Silent	SNP	C	TCGA-CV-7238-01A-11D-2012-08	44198173	89915641	69223022	32	51196											
SAMD9	54809	broad.mit.edu	37	chr7	92731813	92731813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaaagcccaacttctatctCtccttgataaccagctatat	12	13	4	12	0	2	1	0	1	2	0	4	1	3	1	3	0	4	2	3	0	7	7			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:92731813C>T	ENST00000379958.2	-	3	3867	c.3598G>A	c.(3598-3600)Gag>Aag	p.E1200K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1200						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTTCTATCTCTCCTTGATAA	0.338													17	125					0	0	0	0	T	92731813	C	T	92731813	3	4	289	1	0	0	0	0	1	0	0	0	13911	922	32	2	1175	2	SAMD9	7	92731813	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08	2816172	92731813	66406850	33	51197											
TAS2R40	259286	broad.mit.edu	37	chr7	142919246	142919246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcactttggtggtctcCggaatagagtgcatcactgg	8	12	11	10	1	3	1	2	0	1	1	4	2	3	2	2	4	1	1	2	4	2	3			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:142919246C>T	ENST00000595842.1	-	1	114	c.115G>A	c.(115-117)Gga>Aga	p.G39R	TAS2R40_ENST00000408947.3_Silent_p.S25S																							TGGTGGTCTCCGGAATAGAGT	0.517													11	80					0	0	0	0	T	142919246	C	T	142919246	3	4	289	1	0	0	0	0	1	0	0	0	15669	639	23	1	77	1	TAS2R40	7	142919246	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08	50187433	142919246	16219417	34	51198											
CSPP1	79848	broad.mit.edu	37	chr8	68007559	68007559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaaataaaaaacctattgGtcaagttaagcctgatctaa	18	10	7	6	0	2	2	1	1	1	1	2	3	2	2	2	1	2	1	2	1	8	5			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr8:68007559G>A	ENST00000262210.5	+	6	573	c.542G>A	c.(541-543)gGt>gAt	p.G181D	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	216						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAACCTATTGGTCAAGTTAAG	0.328													14	71					0	0	0	0	A	68007559	G	A	68007559	3	1	289	1	0	0	0	0	1	0	0	0	3994	1261	44	4	677	4	CSPP1	8	68007559	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08		68007559	78356463	35	51199											
TMEM70	54968	broad.mit.edu	37	chr8	74893475	74893475	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaataatgctatttctgaAagtgtgcctctgcctattca	12	14	6	9	0	3	1	1	1	2	0	3	1	3	1	2	0	3	1	2	0	6	5			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr8:74893475A>C	ENST00000312184.5	+	3	475	c.402A>C	c.(400-402)gaA>gaC	p.E134D	TMEM70_ENST00000517439.1_3'UTR	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	134					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CTATTTCTGAAAGTGTGCCTC	0.373													26	83					0	0	0	0	C	74893475	A	C	74893475	3	2	289	1	0	0	0	0	1	0	0	0	16293	11	1	5	420	5	TMEM70	8	74893475	Missense_Mutation	SNP	A	TCGA-CV-7238-01A-11D-2012-08	6885916	74893475	71470547	36	51200											
KCNQ3	3786	broad.mit.edu	37	chr8	133152401	133152401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccatagcccctgtcttccGccatggggtcacctgtcccg	4	10	9	18	2	2	0	1	0	1	0	5	0	5	0	7	2	1	0	7	2	1	2			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr8:133152401G>A	ENST00000388996.4	-	11	1910	c.1490C>T	c.(1489-1491)gCg>gTg	p.A497V	KCNQ3_ENST00000521134.1_Missense_Mutation_p.A377V|KCNQ3_ENST00000519445.1_Missense_Mutation_p.A497V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	497					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCTGTCTTCCGCCATGGGGTC	0.612													13	31					0	0	0	0	A	133152401	G	A	133152401	3	1	289	1	0	0	0	0	1	0	0	0	8137	1087	38	1	1148	1	KCNQ3	8	133152401	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08	58258926	133152401	13211621	37	51201											
NOTCH1	4851	broad.mit.edu	37	chr9	139407533	139407533	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcaatacacgtgccctGgttcagacatgggttggacg	8	10	13	10	3	2	1	2	0	0	1	3	2	2	2	1	3	2	2	1	3	2	3			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr9:139407533G>A	ENST00000277541.6	-	15	2482	c.2407C>T	c.(2407-2409)Cag>Tag	p.Q803*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	803	EGF-like 21; calcium-binding (Potential).			Q -> K (in Ref. 1; AAG33848 and 3; AAA60614).	aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACGTGCCCTGGTTCAGACAT	0.637			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			11	36					0	0	0	0	A	139407533	G	A	139407533	4	1	289	1	0	0	0	0	0	1	0	0	10617	1357	47	4	5340	4	NOTCH1	9	139407533	Nonsense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08		139407533	1805898	38	51202											
EHMT1	79813	broad.mit.edu	37	chr9	140611325	140611325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaaaccacgtcactgcCgacgactttgtgcagacttc	12	8	8	13	3	1	1	1	0	0	1	2	3	1	1	2	0	4	2	2	0	3	2			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr9:140611325C>T	ENST00000460843.1	+	3	360	c.333C>T	c.(331-333)gcC>gcT	p.A111A	EHMT1_ENST00000334856.6_Silent_p.A80A|EHMT1_ENST00000462484.1_Silent_p.A111A|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	111					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACGTCACTGCCGACGACTTTG	0.542													7	99					0	0	0	0	T	140611325	C	T	140611325	2	4	289	1	0	0	0	0	0	0	0	1	5019	639	23	1		1	EHMT1	9	140611325	Silent	SNP	C	TCGA-CV-7238-01A-11D-2012-08	1203792	140611325	602106	39	51203											
IDI1	3422	broad.mit.edu	37	chr10	1087328	1087328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctcattgggatctggattCaaagttacattcttcctcac	10	15	6	10	0	5	0	3	0	3	0	7	2	6	2	1	2	1	1	1	2	2	5			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr10:1087328C>G	ENST00000381344.3	-	5	820	c.654G>C	c.(652-654)ttG>ttC	p.L218F	IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	161					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		GATCTGGATTCAAAGTTACAT	0.343													20	50					0	0	0	0	G	1087328	C	G	1087328	3	3	289	1	0	0	0	0	1	0	0	0	7552	825	29	2	204	2	IDI1	10	1087328	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08		1087328	134447419	40	51204											
C10orf71	118461	broad.mit.edu	37	chr10	50531131	50531131	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaattcgctcctcttccaGaaaacagtgtcaacttctgc	11	11	5	14	1	3	1	1	0	2	1	6	1	5	1	3	0	3	1	3	0	4	3			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr10:50531131G>C	ENST00000374144.3	+	3	829	c.541G>C	c.(541-543)Gaa>Caa	p.E181Q	C10orf71_ENST00000323868.4_Missense_Mutation_p.E181Q			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	181										endometrium(1)	1						TCCTCTTCCAGAAAACAGTGT	0.532													11	28					0	0	0	0	C	50531131	G	C	50531131	3	2	289	1	0	0	0	0	1	0	0	0	1624	943	33	2	543	2	C10orf71	10	50531131	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08	49443803	50531131	85003616	41	51205											
PTEN	5728	broad.mit.edu	37	chr10	89692805	89692805	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaccataacccaccaCagctagaacttatcaaaccc	16	7	4	14	0	1	3	1	1	0	2	1	3	1	3	4	0	4	1	4	0	6	4			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr10:89692805C>T	ENST00000371953.3	+	5	1646	c.289C>T	c.(289-291)Cag>Tag	p.Q97*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	97	Phosphatase tensin-type.				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 cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|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|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain 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.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.H93fs*5(1)|p.F56fs*2(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)		TAACCCACCACAGCTAGAACT	0.363		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)			28	64					0	0	0	0	T	89692805	C	T	89692805	4	4	289	1	0	0	0	0	0	1	0	0	12817	479	17	4	307	4	PTEN	10	89692805	Nonsense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08	39161674	89692805	45841942	42	51206											
DLG2	1740	broad.mit.edu	37	chr11	84028042	84028042	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcctgaggagggcatggtCtgagaactgtacccgagccc	8	7	15	11	1	1	2	0	2	1	1	2	5	2	3	3	4	3	2	3	4	2	1			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr11:84028042C>T	ENST00000280241.8	-	1	146	c.147G>A	c.(145-147)caG>caA	p.Q49Q	DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398301.2_Silent_p.Q49Q|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376104.2_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGGGCATGGTCTGAGAACTGT	0.622													12	124					0	0	0	0	T	84028042	C	T	84028042	2	4	289	1	0	0	0	0	0	0	0	1	4592	928	32	2		2	DLG2	11	84028042	Silent	SNP	C	TCGA-CV-7238-01A-11D-2012-08		84028042	50978474	43	51207											
APOA5	116519	broad.mit.edu	37	chr11	116661095	116661095	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcggaaagcctgaagtcGctggcgcacctcctcggaga	8	6	14	13	4	0	2	0	1	0	1	3	4	1	3	3	4	1	2	3	4	2	0			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr11:116661095G>A	ENST00000542499.1	-	4	922	c.850C>T	c.(850-852)Cga>Tga	p.R284*	APOA5_ENST00000227665.4_Nonsense_Mutation_p.R284*	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	284					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GCCTGAAGTCGCTGGCGCACC	0.662													8	61					0	0	0	0	A	116661095	G	A	116661095	4	1	289	1	0	0	0	0	0	1	0	0	786	1095	38	1	254	1	APOA5	11	116661095	Nonsense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08	32633053	116661095	18345421	44	51208											
NCAPD3	23310	broad.mit.edu	37	chr11	134038398	134038398	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagattttggaagtgatgttGaatcgctgttcatctgtgaa	10	15	11	5	1	2	4	1	3	1	1	3	5	2	5	0	1	0	3	0	1	3	4			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr11:134038398G>A	ENST00000534548.2	-	26	3403	c.3339C>T	c.(3337-3339)ttC>ttT	p.F1113F		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1113					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAGTGATGTTGAATCGCTGTT	0.403													5	59					0	0	0	0	A	134038398	G	A	134038398	2	1	289	1	0	0	0	0	0	0	0	1	10276	1281	45	2		2	NCAPD3	11	134038398	Silent	SNP	G	TCGA-CV-7238-01A-11D-2012-08	17377303	134038398	968118	45	51209											
AVPR1A	552	broad.mit.edu	37	chr12	63541189	63541189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttggaagatttaggcgagtCcttccacatacccgtactgt	9	12	9	11	2	0	1	0	0	0	1	2	3	2	2	3	2	2	1	3	2	4	6			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr12:63541189C>T	ENST00000299178.2	-	2	1312	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	403					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTAGGCGAGTCCTTCCACATA	0.383													7	104					0	0	0	0	T	63541189	C	T	63541189	3	4	289	1	0	0	0	0	1	0	0	0	1235	855	30	2	53	2	AVPR1A	12	63541189	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08		63541189	70310706	46	51210											
SETD8	387893	broad.mit.edu	37	chr12	123875278	123875278	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaactcagttacacaTcacgaagtcaaatgccaggg	16	6	10	9	1	3	1	3	0	0	1	3	4	3	1	1	1	3	1	1	1	5	1			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr12:123875278T>G	ENST00000402868.3	+	3	660	c.234T>G	c.(232-234)caT>caG	p.H78Q	SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Missense_Mutation_p.H78Q			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	119					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CAGTTACACATCACGAAGTCA	0.478													4	48					0	0	0	0	G	123875278	T	G	123875278	3	3	289	1	0	0	0	0	1	0	0	0	14224	1432	50	5	244	5	SETD8	12	123875278	Missense_Mutation	SNP	T	TCGA-CV-7238-01A-11D-2012-08	60334089	123875278	9976617	47	51211											
ATP11A	23250	broad.mit.edu	37	chr13	113479843	113479843	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcagagtgagccctttcgGgatgagccgtggtataatca	9	10	14	8	2	1	3	1	2	0	1	2	4	1	4	2	3	2	2	2	3	2	3			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr13:113479843G>A	ENST00000487903.1	+	11	1060	c.972G>A	c.(970-972)cgG>cgA	p.R324R	ATP11A_ENST00000375630.2_Silent_p.R324R|ATP11A_ENST00000375645.3_Silent_p.R324R|ATP11A_ENST00000283558.8_Silent_p.R324R			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	324					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGCCCTTTCGGGATGAGCCGT	0.488													11	43					0	0	0	0	A	113479843	G	A	113479843	2	1	289	1	0	0	0	0	0	0	0	1	1123	1219	43	4		4	ATP11A	13	113479843	Silent	SNP	G	TCGA-CV-7238-01A-11D-2012-08		113479843	1690035	48	51212											
FOXG1	2290	broad.mit.edu	37	chr14	29237514	29237514	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccatgccctacagctcCgtgttgactcagaactcgct	8	9	7	17	2	1	2	1	1	0	1	3	2	2	2	4	0	4	3	4	0	2	2			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr14:29237514C>T	ENST00000382535.3	+	2	1398	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	FOXG1_ENST00000313071.4_Silent_p.S343S			P55316	FOXG1_HUMAN	forkhead box G1	343					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTACAGCTCCGTGTTGACTC	0.652													18	125					0	0	0	0	T	29237514	C	T	29237514	2	4	289	1	0	0	0	0	0	0	0	1	6054	639	23	1		1	FOXG1	14	29237514	Silent	SNP	C	TCGA-CV-7238-01A-11D-2012-08		29237514	78112026	49	51213											
AP4E1	23431	broad.mit.edu	37	chr15	51223158	51223158	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactgggacttctaggaaaaGatgatcaaaggtaaactatt	16	11	9	5	0	2	2	1	1	1	1	2	4	2	4	0	3	2	1	0	3	8	6			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr15:51223158G>C	ENST00000261842.5	+	7	965	c.859G>C	c.(859-861)Gat>Cat	p.D287H	AP4E1_ENST00000560508.1_Missense_Mutation_p.D212H	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	287					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCTAGGAAAAGATGATCAAAG	0.388													3	104					0	0	0	0	C	51223158	G	C	51223158	3	2	289	1	0	0	0	0	1	0	0	0	753	942	33	2	885	2	AP4E1	15	51223158	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08		51223158	51308234	50	51214											
HERC1	8925	broad.mit.edu	37	chr15	63978682	63978682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagctttctccgggtcaaagGatacttcttggataggaaga	11	11	12	7	1	3	1	1	0	2	1	4	5	3	4	1	4	2	1	1	4	4	5			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr15:63978682G>A	ENST00000443617.2	-	34	6188	c.6101C>T	c.(6100-6102)tCc>tTc	p.S2034F	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2034	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGGGTCAAAGGATACTTCTTG	0.453													23	173					0	0	0	0	A	63978682	G	A	63978682	3	1	289	1	0	0	0	0	1	0	0	0	7107	1174	41	2	8664	2	HERC1	15	63978682	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08	12755524	63978682	38552710	51	51215											
C15orf27	123591	broad.mit.edu	37	chr15	76449066	76449066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtggtgattctcctgactCtggaacttctaatagatata	10	15	9	7	0	3	3	0	2	3	1	4	4	3	4	1	3	1	0	1	3	5	6			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr15:76449066C>G	ENST00000388942.3	+	4	625	c.349C>G	c.(349-351)Ctg>Gtg	p.L117V		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	117						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCTCCTGACTCTGGAACTTCT	0.423													4	43					0	0	0	0	G	76449066	C	G	76449066	3	3	289	1	0	0	0	0	1	0	0	0	1800	912	32	2	359	2	C15orf27	15	76449066	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08	12470384	76449066	26082326	52	51216											
VWA3A	146177	broad.mit.edu	37	chr16	22161162	22161162	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcaggacacgctggtGgagaccacagatgcagcgtg	10	6	15	10	2	1	2	1	0	0	2	1	4	1	3	1	4	2	3	1	4	0	0			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr16:22161162G>A	ENST00000389397.4	+	30	3207	c.345G>A	c.(343-345)gtG>gtA	p.V115V	VWA3A_ENST00000389398.5_Silent_p.V1013V|VWA3A_ENST00000563755.1_Silent_p.V115V			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1013						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACACGCTGGTGGAGACCACAG	0.557													5	14					0	0	0	0	A	22161162	G	A	22161162	2	1	289	1	0	0	0	0	0	0	0	1	17336	1335	47	4		4	VWA3A	16	22161162	Silent	SNP	G	TCGA-CV-7238-01A-11D-2012-08		22161162	68193591	53	51217											
ATP2C2	9914	broad.mit.edu	37	chr16	84492766	84492766	+	Frame_Shift_Del	DEL	A	A	-																															agggtattttttacaacatcAaaaactttgtccgattccag																										TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr16:84492766delA	ENST00000416219.2	+	22	2277	c.2188delA	c.(2188-2190)aafs	p.K730fs	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Frame_Shift_Del_p.K730fs			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	730					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TTACAACATCAAAAACTTTGT	0.557													7	92	---	---	---	---					-	84492766	A	-	84492766	7	5	289	1	0	1	0	1	0	0	0	0	1148	131	5	0	2274	0	ATP2C2	16	84492766	Frame_Shift_Del	DEL	A	TCGA-CV-7238-01A-11D-2012-08	62331604	84492766	5861987	54	51218											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	34					0	0	0	0	A	7578263	G	A	7578263	4	1	289	1	0	0	0	0	0	1	0	0	16476	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08		7578263	73616947	55	51219											
DNAH9	1770	broad.mit.edu	37	chr17	11757554	11757554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaggccgtatctgcaagacCccgagttcaatcctgagttt	9	11	9	12	2	3	2	2	1	1	1	4	3	4	2	4	1	1	4	4	1	3	3			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:11757554C>T	ENST00000262442.3	+	50	9810	c.9742C>T	c.(9742-9744)Ccc>Tcc	p.P3248S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3248S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3248	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGCAAGACCCCGAGTTCAA	0.488													13	157					0	0	0	0	T	11757554	C	T	11757554	3	4	289	1	0	0	0	0	1	0	0	0	4644	623	22	4	9940	4	DNAH9	17	11757554	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08	4179291	11757554	69437656	56	51220											
SSH2	85464	broad.mit.edu	37	chr17	27958010	27958010	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtccctgggtctgtagcAcgggaaggcctccttcagaa	8	8	13	12	1	2	1	1	0	1	1	4	2	4	2	3	3	1	3	3	3	3	2			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:27958010A>T	ENST00000269033.3	-	15	4272	c.4121T>A	c.(4120-4122)gTg>gAg	p.V1374E	SSH2_ENST00000540801.1_Missense_Mutation_p.V1401E|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1374					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTCTGTAGCACGGGAAGGCC	0.567													10	70					0	0	0	0	T	27958010	A	T	27958010	3	4	289	1	0	0	0	0	1	0	0	0	15275	159	6	5	154	5	SSH2	17	27958010	Missense_Mutation	SNP	A	TCGA-CV-7238-01A-11D-2012-08	16200456	27958010	53237200	57	51221											
BECN1	8678	broad.mit.edu	37	chr17	40968043	40968043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catccagctccagctgctgtCgtttaaattcactgtattct	8	15	6	12	1	2	0	1	0	1	0	5	0	4	0	2	0	3	5	2	0	3	5			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:40968043C>T	ENST00000361523.4	-	8	845	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	BECN1_ENST00000590099.1_Missense_Mutation_p.R238Q|BECN1_ENST00000438274.3_Missense_Mutation_p.R162Q	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	238					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CAGCTGCTGTCGTTTAAATTC	0.473													7	90					0	0	0	0	T	40968043	C	T	40968043	3	4	289	1	0	0	0	0	1	0	0	0	1400	884	31	1	659	1	BECN1	17	40968043	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08	13010033	40968043	40227167	58	51222											
MAP3K14	9020	broad.mit.edu	37	chr17	43351864	43351864	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgaagatgttgacccaagGcccttctctcacagctccat	10	10	7	14	0	2	3	1	2	1	1	4	3	3	3	3	1	1	2	3	1	2	2			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:43351864G>A	ENST00000344686.2	-	0	1492							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTGACCCAAGGCCCTTCTCTC	0.547													5	29					0	0	0	0	A	43351864	G	A	43351864	1	1	289	0	1	0	0	0	0	0	0	0	9317	1203	42	4		4	MAP3K14	17	43351864	RNA	SNP	G	TCGA-CV-7238-01A-11D-2012-08	2383821	43351864	37843346	59	51223											
SPATA20	64847	broad.mit.edu	37	chr17	48631733	48631733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctattgaccgccttttcCgagcgcatgcgtcgtgtccc	4	12	10	15	5	0	1	0	1	0	0	3	2	2	1	5	0	3	1	5	0	1	4	rs147637130	byFrequency	TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:48631733C>T	ENST00000006658.6	+	15	2199	c.2079C>T	c.(2077-2079)tcC>tcT	p.S693S	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.S633S|SPATA20_ENST00000356488.4_Silent_p.S677S	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	677					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCGCCTTTTCCGAGCGCATGC	0.647													11	99					0	0	0	0	T	48631733	C	T	48631733	2	4	289	1	0	0	0	0	0	0	0	1	15096	639	23	1		1	SPATA20	17	48631733	Silent	SNP	C	TCGA-CV-7238-01A-11D-2012-08	5279869	48631733	32563477	60	51224											
MFSD11	79157	broad.mit.edu	37	chr17	74740437	74740437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagtgtttattgccctaaCggtgattagccttgtgggga	9	13	12	7	1	0	1	0	1	0	0	0	2	0	2	2	3	4	1	2	3	4	6			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:74740437C>T	ENST00000588460.1	+	7	2572	c.530C>T	c.(529-531)aCg>aTg	p.T177M	MFSD11_ENST00000593181.1_Missense_Mutation_p.T125M|MFSD11_ENST00000590514.1_Missense_Mutation_p.T177M|MFSD11_ENST00000336509.4_Missense_Mutation_p.T177M|MFSD11_ENST00000355954.3_Missense_Mutation_p.T125M|MFSD11_ENST00000586622.1_Missense_Mutation_p.T177M	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	177						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						ATTGCCCTAACGGTGATTAGC	0.413													10	80					0	0	0	0	T	74740437	C	T	74740437	3	4	289	1	0	0	0	0	1	0	0	0	9598	536	19	1	556	1	MFSD11	17	74740437	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08	26108704	74740437	6454773	61	51225											
KEAP1	9817	broad.mit.edu	37	chr19	10610205	10610205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaagtcactgcaggcacGgacaacgctgtcgatctggt	10	7	13	11	3	2	0	1	0	1	0	3	3	2	2	0	4	2	3	0	4	2	0			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:10610205G>A	ENST00000171111.5	-	2	1052	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	KEAP1_ENST00000393623.2_Missense_Mutation_p.R169C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R169C(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CTGCAGGCACGGACAACGCTG	0.582													6	64					0	0	0	0	A	10610205	G	A	10610205	3	1	289	1	0	0	0	0	1	0	0	0	8193	1116	39	1	1389	1	KEAP1	19	10610205	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08		10610205	48518778	62	51226											
FXYD5	53827	broad.mit.edu	37	chr19	35660502	35660502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgtcccggttatgccGgaatcgttgcaggtgagtcc	6	10	14	11	3	0	1	0	1	0	0	3	2	2	2	3	3	3	5	3	3	2	2			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:35660502G>T	ENST00000342879.3	+	8	1299	c.521G>T	c.(520-522)cGg>cTg	p.R174L	FXYD5_ENST00000590686.1_Missense_Mutation_p.R174L|FXYD5_ENST00000392217.3_Missense_Mutation_p.R103L|FXYD5_ENST00000541435.2_Missense_Mutation_p.R174L|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000423817.3_Missense_Mutation_p.R174L|FXYD5_ENST00000392219.2_Missense_Mutation_p.R174L|FXYD5_ENST00000588699.1_3'UTR			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	174					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CGGTTATGCCGGAATCGTTGC	0.562													6	33					1.06961e-07	1.64499e-06	1	0	T	35660502	G	T	35660502	3	4	289	1	0	0	0	0	1	0	0	0	6169	1116	39	3	551	3	FXYD5	19	35660502	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08	25050297	35660502	23468481	63	51227											
ZNF845	91664	broad.mit.edu	37	chr19	53855452	53855452	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctttcagtttcaaatcAaaccttgaaagacataggat	16	11	7	7	0	3	2	3	1	0	1	3	4	3	3	1	1	2	2	1	1	5	4			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:53855452A>G	ENST00000458035.1	+	4	1641	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000595091.1_Silent_p.S508S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.388													4	65					0	0	0	0	G	53855452	A	G	53855452	2	3	289	1	0	0	0	0	0	0	0	1	18284	117	5	5		5	ZNF845	19	53855452	Silent	SNP	A	TCGA-CV-7238-01A-11D-2012-08	18194950	53855452	5273531	64	51228											
LILRB2	10288	broad.mit.edu	37	chr19	54783667	54783667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcatcaccagcaccagggGgtcactgagctcagaccacc	10	6	10	15	0	4	2	4	1	0	1	4	2	4	2	4	2	2	2	4	2	0	0			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:54783667G>A	ENST00000391748.1	-	4	461	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	LILRB2_ENST00000391746.1_Missense_Mutation_p.P112S|LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000391749.4_Missense_Mutation_p.P112S|LILRB2_ENST00000314446.5_Missense_Mutation_p.P112S	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	112	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCACCAGGGGGTCACTGAGC	0.607													5	76					0	0	0	0	A	54783667	G	A	54783667	3	1	289	1	0	0	0	0	1	0	0	0	8845	1232	43	4	1506	4	LILRB2	19	54783667	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08	928215	54783667	4345316	65	51229											
SULF2	55959	broad.mit.edu	37	chr20	46291926	46291926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaccagtacgtgttattgTtggcgctggtgcaggcacag	7	11	14	9	2	0	0	0	0	0	0	0	0	0	0	1	3	3	7	1	3	2	4			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr20:46291926T>C	ENST00000359930.4	-	17	3109	c.2258A>G	c.(2257-2259)aAc>aGc	p.N753S	SULF2_ENST00000361612.4_Missense_Mutation_p.N753S|SULF2_ENST00000467815.1_Missense_Mutation_p.N753S|SULF2_ENST00000484875.1_Missense_Mutation_p.N753S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	753					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CGTGTTATTGTTGGCGCTGGT	0.517											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	53					0	0	0	0	C	46291926	T	C	46291926	3	2	289	1	0	0	0	0	1	0	0	0	15461	1725	60	5	374	5	SULF2	20	46291926	Missense_Mutation	SNP	T	TCGA-CV-7238-01A-11D-2012-08		46291926	16733594	66	51230											
MRPL39	54148	broad.mit.edu	37	chr21	26961175	26961175	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatctttccaatagcttaTcccatattgtaaaatgtgcc	12	14	6	9	0	1	1	0	0	1	1	3	2	3	1	3	0	2	2	3	0	6	6			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr21:26961175T>C	ENST00000307301.7	-	9	982	c.941A>G	c.(940-942)gAt>gGt	p.D314G	MRPL39_ENST00000352957.4_Missense_Mutation_p.D314G	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	314						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						CAATAGCTTATCCCATATTGT	0.303													14	226					0	0	0	0	C	26961175	T	C	26961175	3	2	289	1	0	0	0	0	1	0	0	0	9872	1435	50	5	176	5	MRPL39	21	26961175	Missense_Mutation	SNP	T	TCGA-CV-7238-01A-11D-2012-08		26961175	21168720	67	51231											
DMD	1756	broad.mit.edu	37	chrX	32380923	32380923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttccagtcttaattctGtgtgaaatggctgcaaatcg	10	14	8	9	1	2	1	0	1	2	0	4	1	3	1	2	1	1	2	2	1	3	3			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:32380923G>T	ENST00000357033.4	-	37	5513	c.5307C>A	c.(5305-5307)caC>caA	p.H1769Q	DMD_ENST00000378677.2_Missense_Mutation_p.H1765Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1769	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTAATTCTGTGTGAAATGG	0.473													14	140					3.32936e-07	5.06214e-06	1	0	T	32380923	G	T	32380923	3	4	289	1	0	0	0	0	1	0	0	0	4617	1368	48	4	6070	4	DMD	23	32380923	Missense_Mutation	SNP	G	TCGA-CV-7238-01A-11D-2012-08		32380923	122889637	68	51232											
KIF4A	24137	broad.mit.edu	37	chrX	69510347	69510347	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaattcccgtaagagtggcGctgcgttgtcgccctctggt	5	11	14	11	4	1	1	0	0	1	1	3	2	2	2	2	3	1	3	2	3	2	3			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:69510347G>A	ENST00000374403.3	+	2	121	c.39G>A	c.(37-39)gcG>gcA	p.A13A	KIF4A_ENST00000485406.1_3'UTR|KIF4A_ENST00000374388.3_Silent_p.A13A	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	13	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TAAGAGTGGCGCTGCGTTGTC	0.557													9	50					0	0	0	0	A	69510347	G	A	69510347	2	1	289	1	0	0	0	0	0	0	0	1	8354	1074	38	1		1	KIF4A	23	69510347	Silent	SNP	G	TCGA-CV-7238-01A-11D-2012-08	37129424	69510347	85760213	69	51233											
RLIM	51132	broad.mit.edu	37	chrX	73812879	73812879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtcaccattagacacatCatctgaagagtctcctcctg	12	10	7	12	0	4	4	2	1	2	3	6	4	5	4	3	0	0	0	3	0	2	1			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:73812879C>T	ENST00000332687.6	-	4	489	c.271G>A	c.(271-273)Gat>Aat	p.D91N	RLIM_ENST00000349225.2_Missense_Mutation_p.D91N	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	91					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTAGACACATCATCTGAAGAG	0.418													7	70					0	0	0	0	T	73812879	C	T	73812879	3	4	289	1	0	0	0	0	1	0	0	0	13475	826	29	2	1607	2	RLIM	23	73812879	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08	4302532	73812879	81457681	70	51234											
SRPX2	27286	broad.mit.edu	37	chrX	99925827	99925827	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atttcagcgcctcactcgctCctacttcaacatggtgttga	8	13	7	13	2	3	1	3	1	0	0	5	1	4	1	2	1	3	2	2	1	2	4			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:99925827C>G	ENST00000373004.3	+	11	1669	c.1241C>G	c.(1240-1242)tCc>tGc	p.S414C		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	414					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CTCACTCGCTCCTACTTCAAC	0.517											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	101					0	0	0	0	G	99925827	C	G	99925827	3	3	289	1	0	0	0	0	1	0	0	0	15255	855	30	2	1279	2	SRPX2	23	99925827	Missense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08	26112948	99925827	55344733	71	51235											
ARHGEF6	9459	broad.mit.edu	37	chrX	135754234	135754234	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcaatgatgagtttctCttcctcagggagtaggactt	8	16	9	8	0	4	2	2	2	2	0	6	4	5	4	1	2	0	2	1	2	2	6			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:135754234C>A	ENST00000250617.6	-	20	3285	c.2080G>T	c.(2080-2082)Gag>Tag	p.E694*	ARHGEF6_ENST00000370620.1_Nonsense_Mutation_p.E540*|ARHGEF6_ENST00000370622.1_Nonsense_Mutation_p.E540*|ARHGEF6_ENST00000535227.1_Nonsense_Mutation_p.E567*	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	694					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATGAGTTTCTCTTCCTCAGGG	0.473													13	159					0.000219431	0.00322637	1	0	A	135754234	C	A	135754234	4	1	289	1	0	0	0	0	0	1	0	0	912	922	32	2	262	2	ARHGEF6	23	135754234	Nonsense_Mutation	SNP	C	TCGA-CV-7238-01A-11D-2012-08	35828407	135754234	19516326	72	51236											
ACTRT2	140625	broad.mit.edu	37	chr1	2939112	2939112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagcagcatcaccaagtgtGataccgacatccagaagatc	14	6	8	13	1	1	3	1	1	0	2	3	4	2	3	4	0	3	2	4	0	3	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:2939112G>A	ENST00000378404.2	+	1	1067	c.862G>A	c.(862-864)Gat>Aat	p.D288N		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	288						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CACCAAGTGTGATACCGACAT	0.632													29	98					0	0	0	0	A	2939112	G	A	2939112	3	1	290	1	0	0	0	0	1	0	0	0	219	1290	45	2	864	2	ACTRT2	1	2939112	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08		2939112	246311509	1	51237											
CCDC27	148870	broad.mit.edu	37	chr1	3686432	3686432	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgagatctctgacaatgAcatcctggaagccctgcagg	12	7	10	12	1	1	3	0	2	1	1	3	5	2	4	2	2	3	1	2	2	3	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:3686432A>T	ENST00000294600.2	+	11	1913	c.1829A>T	c.(1828-1830)gAc>gTc	p.D610V		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	610								p.I611fs*17(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TCTGACAATGACATCCTGGAA	0.577													14	60					0	0	0	0	T	3686432	A	T	3686432	3	4	290	1	0	0	0	0	1	0	0	0	2827	275	10	5	1871	5	CCDC27	1	3686432	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	747320	3686432	245564189	2	51238											
CAMTA1	23261	broad.mit.edu	37	chr1	7737775	7737775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcccttcctcccagcacGactggctgtcgttggacggt	4	10	11	16	4	0	0	0	0	0	0	4	2	3	1	3	3	1	4	3	3	0	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:7737775G>T	ENST00000303635.7	+	11	3103	c.2896G>T	c.(2896-2898)Gac>Tac	p.D966Y	CAMTA1_ENST00000439411.2_Missense_Mutation_p.D966Y	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	966					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTCCCAGCACGACTGGCTGTC	0.557			T	WWTR1	epitheliod hemangioendothelioma								21	52					2.32416e-17	5.84965e-17	1	0	T	7737775	G	T	7737775	3	4	290	1	0	0	0	0	1	0	0	0	2638	1058	37	3	2938	3	CAMTA1	1	7737775	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	4051343	7737775	241512846	3	51239											
PRAMEF2	65122	broad.mit.edu	37	chr1	12921146	12921146	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagaggacttgaagtgtCtctcccagttcccaagcctc	10	10	9	12	0	1	3	0	1	1	2	5	4	3	4	3	1	1	1	3	1	4	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:12921146C>A	ENST00000240189.2	+	4	1024	c.937C>A	c.(937-939)Ctc>Atc	p.L313I		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	313										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGAAGTGTCTCTCCCAGTT	0.493													42	175					2.47872e-24	6.61882e-24	1	0	A	12921146	C	A	12921146	3	1	290	1	0	0	0	0	1	0	0	0	12512	913	32	2	947	2	PRAMEF2	1	12921146	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	5183371	12921146	236329475	4	51240											
C1orf63	57035	broad.mit.edu	37	chr1	25573429	25573429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgcggcgagcccggcCacatgtcgttcacgtagttg	5	10	12	14	5	2	0	1	0	1	0	4	1	2	0	3	2	2	3	3	2	1	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:25573429C>A	ENST00000243189.7	-	2	302	c.26G>T	c.(25-27)tGg>tTg	p.W9L	C1orf63_ENST00000417642.2_Missense_Mutation_p.W2L|C1orf63_ENST00000431849.2_Missense_Mutation_p.W9L	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	9										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGAGCCCGGCCACATGTCGTT	0.607													22	89					8.24728e-16	2.03451e-15	1	0	A	25573429	C	A	25573429	3	1	290	1	0	0	0	0	1	0	0	0	2073	595	21	4	862	4	C1orf63	1	25573429	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	12652283	25573429	223677192	5	51241											
MPL	4352	broad.mit.edu	37	chr1	43803901	43803901	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgtatgcctacccgCggtaggtgctggactgtgcc	5	10	14	12	2	0	0	0	0	0	0	0	1	0	1	3	3	6	5	3	3	3	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:43803901C>A	ENST00000372470.3	+	2	253	c.212_splice	c.e2+1	p.R71_splice	MPL_ENST00000413998.2_Splice_Site_p.R71_splice	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	71					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	p.R71W(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCCTACCCGCGGTAGGTGCT	0.577			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						7	36					0.00448238	0.00834843	1	0	A	43803901	C	A	43803901	5	1	290	1	0	0	0	0	0	0	1	0	9800	782	27	3	217	3	MPL	1	43803901	Splice_Site	SNP	C	TCGA-CV-7242-01A-11D-2012-08	18230472	43803901	205446720	6	51242											
RNF11	26994	broad.mit.edu	37	chr1	51735628	51735628	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctatattttaatattttagGaacaagttccagttccagtc	12	17	5	7	0	1	0	0	0	1	0	4	1	3	1	2	1	1	2	2	1	7	9			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:51735628G>C	ENST00000242719.3	+	2	610	c.123_splice	c.e2-1	p.E42_splice	RNF11_ENST00000494873.1_Intron	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	42					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	p.0?(2)		large_intestine(1)	1						AATATTTTAGGAACAAGTTCC	0.413													7	33					0	0	0	0	C	51735628	G	C	51735628	5	2	290	1	0	0	0	0	0	0	1	0	13509	1188	41	2	130	2	RNF11	1	51735628	Splice_Site	SNP	G	TCGA-CV-7242-01A-11D-2012-08	7931727	51735628	197514993	7	51243											
TMEM61	199964	broad.mit.edu	37	chr1	55451924	55451924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccacccacggagtatcCggtgcctgagggccccagcc	6	4	13	18	2	0	1	0	1	0	0	1	2	1	2	8	4	2	1	8	4	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:55451924C>T	ENST00000371268.3	+	2	444	c.170C>T	c.(169-171)cCg>cTg	p.P57L	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	57						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						ACGGAGTATCCGGTGCCTGAG	0.682													27	79					0	0	0	0	T	55451924	C	T	55451924	3	4	290	1	0	0	0	0	1	0	0	0	16282	652	23	1	176	1	TMEM61	1	55451924	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	3716296	55451924	193798697	8	51244											
GBP1	2633	broad.mit.edu	37	chr1	89523674	89523674	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtactaggaaggggacttaCgaggcccgttgacctggatg	10	8	15	8	2	0	1	0	1	0	0	0	5	0	4	2	5	2	2	2	5	4	4	rs139189718	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:89523674C>A	ENST00000370473.4	-	6	1094		c.e6+1			NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible						interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.?(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AGGGGACTTACGAGGCCCGTT	0.423													28	63					3.65163e-15	8.91955e-15	1	0	A	89523674	C	A	89523674	5	1	290	1	0	0	0	0	0	0	1	0	6322	550	19	3	927	3	GBP1	1	89523674	Splice_Site	SNP	C	TCGA-CV-7242-01A-11D-2012-08	34071750	89523674	159726947	9	51245											
DBT	1629	broad.mit.edu	37	chr1	100701061	100701061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactgaacaacctgtccaCggagagcttcaaagacaaat	16	7	8	10	1	1	4	1	2	0	2	2	5	2	4	2	1	4	1	2	1	5	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:100701061C>A	ENST00000370132.3	-	3	195	c.182G>T	c.(181-183)cGt>cTt	p.R61L	DBT_ENST00000370131.3_Missense_Mutation_p.R61L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	61					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AACCTGTCCACGGAGAGCTTC	0.333													9	22					5.4927e-09	1.18268e-08	1	0	A	100701061	C	A	100701061	3	1	290	1	0	0	0	0	1	0	0	0	4291	536	19	3	1302	3	DBT	1	100701061	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	11177387	100701061	148549560	10	51246											
WDR77	79084	broad.mit.edu	37	chr1	111991351	111991351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcgttgggggcggcacagGggtccttaaaaagccagagg	9	7	16	9	2	0	1	0	0	0	1	2	1	1	1	2	6	1	2	2	6	3	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:111991351G>A	ENST00000235090.5	-	2	397	c.191C>T	c.(190-192)cCc>cTc	p.P64L	WDR77_ENST00000411751.2_Missense_Mutation_p.P64L	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	64					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCGGCACAGGGGTCCTTAAA	0.652													3	11					0	0	0	0	A	111991351	G	A	111991351	3	1	290	1	0	0	0	0	1	0	0	0	17423	1232	43	4	873	4	WDR77	1	111991351	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	11290290	111991351	137259270	11	51247											
PDE4DIP	9659	broad.mit.edu	37	chr1	145039590	145039590	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaacagcccacctacCtcgtccaggtctgctccatt	10	8	8	15	1	1	0	0	0	1	0	4	2	3	1	5	2	4	1	5	2	3	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:145039590C>G	ENST00000313382.9	-	1	412	c.20_splice	c.e1+1	p.R7_splice	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000493130.2_Splice_Site_p.R7_splice|PDE4DIP_ENST00000478649.2_Splice_Site_p.R7_splice|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron	NM_001198832.1	NP_001185761.1	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCCACCTACCTCGTCCAGGT	0.627			T	PDGFRB	MPD								3	53					0	0	0	0	G	145039590	C	G	145039590	5	3	290	1	0	0	0	0	0	0	1	0	11714	696	24	4		4	PDE4DIP	1	145039590	Splice_Site	SNP	C	TCGA-CV-7242-01A-11D-2012-08	33048239	145039590	104211031	12	51248											
TUFT1	7286	broad.mit.edu	37	chr1	151553494	151553494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacttcagcacccaggcccGggccaagacagagaacccgg	12	2	11	16	2	1	2	1	0	0	2	1	3	1	2	4	3	3	1	4	3	3	1	rs150712835		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:151553494G>A	ENST00000368849.3	+	12	1147	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	TUFT1_ENST00000353024.3_Missense_Mutation_p.R303Q|TUFT1_ENST00000392712.3_Missense_Mutation_p.R307Q|TUFT1_ENST00000368848.2_Missense_Mutation_p.R337Q|TUFT1_ENST00000538902.1_Missense_Mutation_p.R381Q	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	362					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCAGGCCCGGGCCAAGACA	0.522													16	48					0	0	0	0	A	151553494	G	A	151553494	3	1	290	1	0	0	0	0	1	0	0	0	16868	1116	39	1	1131	1	TUFT1	1	151553494	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	6513904	151553494	97697127	13	51249											
FCRL5	83416	broad.mit.edu	37	chr1	157514694	157514694	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccagtacagcgatatgcAccattgtccttgagacatgc	11	11	8	11	1	0	1	0	1	0	1	2	3	2	1	3	0	4	2	3	0	3	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:157514694A>C	ENST00000361835.3	-	4	643	c.486T>G	c.(484-486)ggT>ggG	p.G162G	FCRL5_ENST00000368191.3_Silent_p.G77G|FCRL5_ENST00000368190.3_Silent_p.G162G|FCRL5_ENST00000368189.3_Silent_p.G162G|FCRL5_ENST00000356953.4_Silent_p.G162G	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	162						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGCGATATGCACCATTGTCCT	0.363													13	98					0	0	0	0	C	157514694	A	C	157514694	2	2	290	1	0	0	0	0	0	0	0	1	5843	146	6	5		5	FCRL5	1	157514694	Silent	SNP	A	TCGA-CV-7242-01A-11D-2012-08	5961200	157514694	91735927	14	51250											
ILDR2	387597	broad.mit.edu	37	chr1	166904662	166904662	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagtaagggccggggacAccggagacagagggagggta	12	3	20	6	2	0	2	0	0	0	2	0	6	0	5	2	7	0	2	2	7	2	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:166904662A>T	ENST00000271417.3	-	6	811	c.756T>A	c.(754-756)ggT>ggA	p.G252G	ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000469934.2_Silent_p.G252G|ILDR2_ENST00000529071.1_Silent_p.G233G|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	252						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGCCGGGGACACCGGAGACAG	0.602													15	39					0	0	0	0	T	166904662	A	T	166904662	2	4	290	1	0	0	0	0	0	0	0	1	7763	146	6	5		5	ILDR2	1	166904662	Silent	SNP	A	TCGA-CV-7242-01A-11D-2012-08	9389968	166904662	82345959	15	51251											
MAEL	84944	broad.mit.edu	37	chr1	166961962	166961962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattttttgaacatttttaGccatggcgagctacctcctc	8	17	6	10	1	0	1	0	1	0	0	2	2	1	1	3	1	4	1	3	1	4	8			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:166961962G>T	ENST00000367872.4	+	4	609	c.365G>T	c.(364-366)aGc>aTc	p.S122I	MAEL_ENST00000367870.2_Missense_Mutation_p.S91I|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	122					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AACATTTTTAGCCATGGCGAG	0.363													34	35					3.62531e-18	9.15544e-18	1	0	T	166961962	G	T	166961962	3	4	290	1	0	0	0	0	1	0	0	0	9219	971	34	4	379	4	MAEL	1	166961962	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	57300	166961962	82288659	16	51252											
DUSP27	92235	broad.mit.edu	37	chr1	167097477	167097477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caagttcccgagaggagagcCcagagccctacttcttccgc	9	7	10	15	2	1	3	0	0	1	3	3	5	3	3	4	1	3	1	4	1	2	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:167097477C>T	ENST00000361200.2	+	6	3275	c.3109C>T	c.(3109-3111)Cca>Tca	p.P1037S	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.P1037S|DUSP27_ENST00000271385.5_Missense_Mutation_p.P1037S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1037					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAGGAGAGCCCAGAGCCCTA	0.587													19	23					0	0	0	0	T	167097477	C	T	167097477	3	4	290	1	0	0	0	0	1	0	0	0	4860	623	22	4	3127	4	DUSP27	1	167097477	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	135515	167097477	82153144	17	51253											
TNR	7143	broad.mit.edu	37	chr1	175325503	175325503	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtgagaggtccattggTggcatacatggtggcagtat	9	11	15	6	0	0	1	0	1	0	1	1	2	1	1	1	6	1	3	1	6	2	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:175325503T>C	ENST00000367674.1	-	16	3778	c.3070A>G	c.(3070-3072)Acc>Gcc	p.T1024A	TNR_ENST00000263525.2_Missense_Mutation_p.T1024A	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1024	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTCCATTGGTGGCATACATG	0.507													11	75					0	0	0	0	C	175325503	T	C	175325503	3	2	290	1	0	0	0	0	1	0	0	0	16432	1696	59	5	1038	5	TNR	1	175325503	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	8228026	175325503	73925118	18	51254											
PAPPA2	60676	broad.mit.edu	37	chr1	176640251	176640251	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggacgctgtcactcacctgGgtaagtgaaatgaagaccaa	14	7	11	9	1	2	3	2	2	0	1	2	4	2	4	2	2	0	2	2	2	4	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:176640251G>A	ENST00000367662.3	+	4	3301	c.2137_splice	c.e4+1	p.G713_splice	PAPPA2_ENST00000367661.3_Splice_Site_p.G713_splice	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	713	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACTCACCTGGGTAAGTGAAA	0.468													27	71					0	0	0	0	A	176640251	G	A	176640251	5	1	290	1	0	0	0	0	0	0	1	0	11504	1246	43	4	2147	4	PAPPA2	1	176640251	Splice_Site	SNP	G	TCGA-CV-7242-01A-11D-2012-08	1314748	176640251	72610370	19	51255											
KIAA1614	57710	broad.mit.edu	37	chr1	180885313	180885313	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccaagacagggagtggaaCagccagccccgtggagggga	11	2	17	11	1	0	1	0	0	0	1	0	5	0	5	4	5	3	0	4	5	2	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:180885313C>G	ENST00000367588.4	+	2	129	c.74C>G	c.(73-75)aCa>aGa	p.T25R		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	25										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGGAGTGGAACAGCCAGCCCC	0.617													3	41					0	0	0	0	G	180885313	C	G	180885313	3	3	290	1	0	0	0	0	1	0	0	0	8299	478	17	4	80	4	KIAA1614	1	180885313	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	4245062	180885313	68365308	20	51256											
CFH	3075	broad.mit.edu	37	chr1	196712681	196712681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagtacgttatcaatgtaGgagcccttatgaaatgtttg	12	13	11	5	1	1	2	1	1	0	1	1	4	1	3	1	1	2	4	1	1	6	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:196712681G>T	ENST00000367429.4	+	20	3473	c.3233G>T	c.(3232-3234)aGg>aTg	p.R1078M		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1078	Sushi 18.		R -> S (associated with basal laminar drusen).		complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TATCAATGTAGGAGCCCTTAT	0.398													19	72					2.94398e-08	6.28443e-08	1	0	T	196712681	G	T	196712681	3	4	290	1	0	0	0	0	1	0	0	0	3312	1000	35	4	3329	4	CFH	1	196712681	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	15827368	196712681	52537940	21	51257											
CRB1	23418	broad.mit.edu	37	chr1	197396759	197396759	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatccgtgtctggctagaGcgcggcagactagcaatgct	9	10	12	10	3	1	2	0	0	1	2	2	2	2	2	1	2	3	4	1	2	5	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:197396759G>A	ENST00000367397.1	+	3	1305	c.447G>A	c.(445-447)gaG>gaA	p.E149E	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Silent_p.E656E|CRB1_ENST00000367400.3_Silent_p.E768E|CRB1_ENST00000535699.1_Silent_p.E699E|CRB1_ENST00000544212.1_Silent_p.E249E|CRB1_ENST00000543483.1_3'UTR			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	768	EGF-like 4; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTGGCTAGAGCGCGGCAGAC	0.418													20	19					0	0	0	0	A	197396759	G	A	197396759	2	1	290	1	0	0	0	0	0	0	0	1	3878	962	34	4		4	CRB1	1	197396759	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	684078	197396759	51853862	22	51258											
OPTC	26254	broad.mit.edu	37	chr1	203472812	203472812	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttccccagcgcctacttCtgcctgcctcggctccccat	3	11	6	21	2	2	0	0	0	2	0	5	0	4	0	7	1	4	1	7	1	1	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:203472812C>T	ENST00000367222.2	+	7	1079	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	321						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCGCCTACTTCTGCCTGCCTC	0.632													31	62					0	0	0	0	T	203472812	C	T	203472812	2	4	290	1	0	0	0	0	0	0	0	1	10959	912	32	2		2	OPTC	1	203472812	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	6076053	203472812	45777809	23	51259											
PROX1	5629	broad.mit.edu	37	chr1	214171294	214171294	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgcctctctctgccacCacgggcttcaccacgtccac	6	8	7	20	3	3	0	1	0	2	0	6	0	4	0	5	1	1	1	5	1	0	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:214171294C>A	ENST00000366958.4	+	2	2024	c.1416C>A	c.(1414-1416)acC>acA	p.T472T	PROX1_ENST00000261454.4_Silent_p.T472T|PROX1_ENST00000498508.2_Silent_p.T472T|PROX1_ENST00000435016.1_Silent_p.T472T	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	472					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCTCTGCCACCACGGGCTTCA	0.647													59	65					9.77497e-20	2.51116e-19	1	0	A	214171294	C	A	214171294	2	1	290	1	0	0	0	0	0	0	0	1	12640	581	21	4		4	PROX1	1	214171294	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	10698482	214171294	35079327	24	51260											
USH2A	7399	broad.mit.edu	37	chr1	216591996	216591996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttgaacacaatctgccCatctactgtcttttctataa	12	15	4	10	0	4	1	0	1	4	0	4	1	4	1	1	0	3	1	1	0	6	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:216591996C>T	ENST00000366943.2	-	3	897	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	USH2A_ENST00000307340.3_Missense_Mutation_p.G171R|USH2A_ENST00000366942.3_Missense_Mutation_p.G171R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	171					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAATCTGCCCATCTACTGTC	0.388										HNSCC(13;0.011)			7	57					0	0	0	0	T	216591996	C	T	216591996	3	4	290	1	0	0	0	0	1	0	0	0	17132	594	21	4	15391	4	USH2A	1	216591996	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	2420702	216591996	32658625	25	51261											
CEP170	9859	broad.mit.edu	37	chr1	243362455	243362455	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcatccccccaccatgacgGctgcccatataatggagtac	11	8	7	15	1	1	1	1	1	0	0	2	2	2	2	5	2	2	2	5	2	3	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:243362455G>C	ENST00000366542.1	-	7	589	c.538C>G	c.(538-540)Ccg>Gcg	p.P180A	CEP170_ENST00000366543.1_Missense_Mutation_p.P180A|CEP170_ENST00000366544.1_Missense_Mutation_p.P180A	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	180						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CACCATGACGGCTGCCCATAT	0.418													12	16					0	0	0	0	C	243362455	G	C	243362455	3	2	290	1	0	0	0	0	1	0	0	0	3279	1203	42	4	4302	4	CEP170	1	243362455	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	26770459	243362455	5888166	26	51262											
OR2T1	26696	broad.mit.edu	37	chr1	248569884	248569884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgttggatgattatagcaGgttcctggtttgggggctct	5	16	14	6	0	2	1	0	1	2	0	3	2	3	2	1	5	1	5	1	5	2	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:248569884G>T	ENST00000366474.1	+	1	589	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATTATAGCAGGTTCCTGGTT	0.542													49	49					8.04919e-23	2.11896e-22	1	0	T	248569884	G	T	248569884	3	4	290	1	0	0	0	0	1	0	0	0	11087	1000	35	4	591	4	OR2T1	1	248569884	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	5207429	248569884	680737	27	51263											
MYT1L	23040	broad.mit.edu	37	chr2	1796146	1796146	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagagactggctcaggtTcgccagctcgtggaggagag	9	7	16	9	2	2	2	2	0	0	2	4	6	2	3	1	4	1	3	1	4	0	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:1796146T>C	ENST00000399161.2	-	24	4114	c.3367A>G	c.(3367-3369)Aac>Gac	p.N1123D	MYT1L_ENST00000428368.2_Missense_Mutation_p.N1121D|MYT1L_ENST00000407844.1_Missense_Mutation_p.N121D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1123					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGCTCAGGTTCGCCAGCTCG	0.547													5	12					0	0	0	0	C	1796146	T	C	1796146	3	2	290	1	0	0	0	0	1	0	0	0	10177	1783	62	5	201	5	MYT1L	2	1796146	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08		1796146	241403227	28	51264											
RHOB	388	broad.mit.edu	37	chr2	20647664	20647664	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacggatgacggccgcgcCatggccgtgcgcatccaagc	7	4	14	16	7	0	1	0	1	0	0	1	2	1	2	4	3	2	2	4	3	1	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:20647664C>A	ENST00000272233.4	+	1	830	c.438C>A	c.(436-438)gcC>gcA	p.A146A		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	146					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		ACGGCCGCGCCATGGCCGTGC	0.662													44	94					9.39024e-22	2.45464e-21	1	0	A	20647664	C	A	20647664	2	1	290	1	0	0	0	0	0	0	0	1	13415	581	21	4		4	RHOB	2	20647664	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	18851518	20647664	222551709	29	51265											
APOB	338	broad.mit.edu	37	chr2	21231924	21231924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaggtagctttctgaagagCctgaagactgacttcaaagg	13	9	12	7	0	2	5	1	3	1	2	2	6	2	5	1	2	2	2	1	2	5	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:21231924C>T	ENST00000233242.1	-	26	7943	c.7816G>A	c.(7816-7818)Gct>Act	p.A2606T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2606					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCTGAAGAGCCTGAAGACTG	0.418													28	65					0	0	0	0	T	21231924	C	T	21231924	3	4	290	1	0	0	0	0	1	0	0	0	787	739	26	4	5891	4	APOB	2	21231924	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	584260	21231924	221967449	30	51266											
MAP4K3	8491	broad.mit.edu	37	chr2	39505576	39505576	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatgtttcatgaagttcaTtaagattgagggtataaatc	13	16	9	3	0	2	4	2	3	0	1	3	4	2	4	0	1	0	3	0	1	5	7			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:39505576T>C	ENST00000263881.3	-	24	2090	c.1766A>G	c.(1765-1767)aAt>aGt	p.N589S	MAP4K3_ENST00000341681.5_Missense_Mutation_p.N568S|MAP4K3_ENST00000437545.1_Missense_Mutation_p.N505S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.N142S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	589	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ATGAAGTTCATTAAGATTGAG	0.264													3	22					0	0	0	0	C	39505576	T	C	39505576	3	2	290	1	0	0	0	0	1	0	0	0	9330	1493	52	5	962	5	MAP4K3	2	39505576	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	18273652	39505576	203693797	31	51267											
COX7A2L	9167	broad.mit.edu	37	chr2	42580403	42580403	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttcccagcataatcataCactgtggaatcggaggtcag	11	12	9	9	1	2	0	2	0	0	0	4	2	3	2	1	3	2	1	1	3	3	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:42580403C>A	ENST00000378669.1	-	3	982	c.153G>T	c.(151-153)gtG>gtT	p.V51V	COX7A2L_ENST00000463055.1_Silent_p.V51V|COX7A2L_ENST00000234301.2_Silent_p.V51V|COX7A2L_ENST00000482463.1_5'UTR			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	51					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			lung(4)	4						CATAATCATACACTGTGGAAT	0.403													16	57					2.23348e-06	4.5463e-06	1	0	A	42580403	C	A	42580403	2	1	290	1	0	0	0	0	0	0	0	1	3811	465	17	4		4	COX7A2L	2	42580403	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	3074827	42580403	200618970	32	51268											
ABCG8	64241	broad.mit.edu	37	chr2	44104829	44104829	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcggtctcaggagataaagTaagcggggaaggcctcgggt	10	6	17	8	4	1	1	1	0	1	1	3	3	1	2	1	6	1	1	1	6	4	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:44104829T>A	ENST00000272286.2	+	12	1974		c.e12+2			NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8						cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGAGATAAAGTAAGCGGGGAA	0.507											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	81					0	0	0	0	A	44104829	T	A	44104829	5	1	290	1	0	0	0	0	0	0	1	0	72	1652	57	5	1932	5	ABCG8	2	44104829	Splice_Site	SNP	T	TCGA-CV-7242-01A-11D-2012-08	1524426	44104829	199094544	33	51269											
FSHR	2492	broad.mit.edu	37	chr2	49189901	49189901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctaaatgacttagagggaCaagtatgtaagtggaaccac	15	8	12	6	0	0	2	0	1	0	1	0	4	0	4	1	3	1	3	1	3	7	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:49189901C>G	ENST00000406846.2	-	10	2178	c.2059G>C	c.(2059-2061)Gtc>Ctc	p.V687L	FSHR_ENST00000304421.4_Missense_Mutation_p.V661L|FSHR_ENST00000541117.1_Missense_Mutation_p.V423L|FSHR_ENST00000346173.3_Missense_Mutation_p.V625L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	687					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CTTAGAGGGACAAGTATGTAA	0.418									Gonadal Dysgenesis, 46 XX				13	44					0	0	0	0	G	49189901	C	G	49189901	3	3	290	1	0	0	0	0	1	0	0	0	6121	478	17	4	32	4	FSHR	2	49189901	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	5085072	49189901	194009472	34	51270											
FSHR	2492	broad.mit.edu	37	chr2	49381534	49381534	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctcaggaatgccagcAaagagaccaggagcagggcc	14	2	13	12	0	1	1	1	0	0	1	1	4	1	3	4	3	4	3	4	3	3	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:49381534A>G	ENST00000406846.2	-	1	142	c.23T>C	c.(22-24)tTg>tCg	p.L8S	FSHR_ENST00000304421.4_Missense_Mutation_p.L8S|FSHR_ENST00000346173.3_Missense_Mutation_p.L8S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	8					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAATGCCAGCAAAGAGACCAG	0.488									Gonadal Dysgenesis, 46 XX				9	45					0	0	0	0	G	49381534	A	G	49381534	3	3	290	1	0	0	0	0	1	0	0	0	6121	131	5	5	2104	5	FSHR	2	49381534	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	191633	49381534	193817839	35	51271											
NRXN1	9378	broad.mit.edu	37	chr2	50780107	50780107	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcttcatcttaggatcTccttgcttggcaagtcgaga	8	14	10	9	1	4	1	1	0	3	1	6	4	4	3	1	3	1	2	1	3	2	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:50780107T>A	ENST00000404971.1	-	10	2836	c.1497A>T	c.(1495-1497)ggA>ggT	p.G499G	NRXN1_ENST00000402717.3_Silent_p.G451G|NRXN1_ENST00000405472.3_Silent_p.G451G|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.G459G|NRXN1_ENST00000401669.2_Silent_p.G459G|NRXN1_ENST00000406316.2_Silent_p.G459G	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	459	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTAGGATCTCCTTGCTTGG	0.408													36	130					0	0	0	0	A	50780107	T	A	50780107	2	1	290	1	0	0	0	0	0	0	0	1	10736	1538	54	5		5	NRXN1	2	50780107	Silent	SNP	T	TCGA-CV-7242-01A-11D-2012-08	1398573	50780107	192419266	36	51272											
NRXN1	9378	broad.mit.edu	37	chr2	50780123	50780123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctccttgcttggcaagtCgagataattccagcctcaca	10	11	8	12	1	2	1	1	0	1	1	5	3	3	1	3	1	2	2	3	1	2	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:50780123C>A	ENST00000404971.1	-	10	2820	c.1481G>T	c.(1480-1482)cGa>cTa	p.R494L	NRXN1_ENST00000402717.3_Missense_Mutation_p.R446L|NRXN1_ENST00000405472.3_Missense_Mutation_p.R446L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.R454L|NRXN1_ENST00000401669.2_Missense_Mutation_p.R454L|NRXN1_ENST00000406316.2_Missense_Mutation_p.R454L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	454	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTGGCAAGTCGAGATAATTC	0.403													32	137					6.84511e-11	1.56911e-10	1	0	A	50780123	C	A	50780123	3	1	290	1	0	0	0	0	1	0	0	0	10736	884	31	3	3485	3	NRXN1	2	50780123	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	16	50780123	192419250	37	51273											
DYSF	8291	broad.mit.edu	37	chr2	71795363	71795363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaacgggcctcacctaccCcaagttttctgacgtcacgg	9	8	8	16	3	3	1	2	1	1	0	3	1	3	1	4	2	2	1	4	2	3	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:71795363C>A	ENST00000258104.3	+	26	2982	c.2705C>A	c.(2704-2706)cCc>cAc	p.P902H	DYSF_ENST00000409762.1_Missense_Mutation_p.P919H|DYSF_ENST00000394120.2_Missense_Mutation_p.P903H|DYSF_ENST00000410020.3_Missense_Mutation_p.P920H|DYSF_ENST00000409651.1_Missense_Mutation_p.P934H|DYSF_ENST00000409366.1_Missense_Mutation_p.P903H|DYSF_ENST00000410041.1_Missense_Mutation_p.P920H|DYSF_ENST00000413539.2_Missense_Mutation_p.P933H|DYSF_ENST00000409582.3_Missense_Mutation_p.P919H|DYSF_ENST00000409744.1_Missense_Mutation_p.P889H|DYSF_ENST00000429174.2_Missense_Mutation_p.P902H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	902						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTCACCTACCCCAAGTTTTCT	0.607													67	227					2.01871e-26	5.40986e-26	1	0	A	71795363	C	A	71795363	3	1	290	1	0	0	0	0	1	0	0	0	4895	623	22	4	2999	4	DYSF	2	71795363	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	21015240	71795363	171404010	38	51274											
CYP26B1	56603	broad.mit.edu	37	chr2	72361997	72361997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcactgcagcttctcccGgatggccttctccagcccct	4	11	9	17	1	2	0	0	0	2	0	4	1	2	1	5	2	4	3	5	2	0	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:72361997G>A	ENST00000001146.2	-	4	957	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R177W|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R61W	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	252					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.R252R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						AGCTTCTCCCGGATGGCCTTC	0.602													18	36					0	0	0	0	A	72361997	G	A	72361997	3	1	290	1	0	0	0	0	1	0	0	0	4188	1115	39	1	796	1	CYP26B1	2	72361997	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	566634	72361997	170837376	39	51275											
ALMS1	7840	broad.mit.edu	37	chr2	73777441	73777441	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagctcaggtgctaggcAcaagagatgatgacctctca	11	8	10	12	0	2	3	2	2	1	1	4	4	3	3	2	2	2	3	2	2	2	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:73777441A>C	ENST00000264448.6	+	13	10063	c.9952A>C	c.(9952-9954)Aca>Cca	p.T3318P	ALMS1_ENST00000409009.1_Missense_Mutation_p.T3276P	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3318					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGTGCTAGGCACAAGAGATGA	0.438													16	60					0	0	0	0	C	73777441	A	C	73777441	3	2	290	1	0	0	0	0	1	0	0	0	535	159	6	5	10002	5	ALMS1	2	73777441	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	1415444	73777441	169421932	40	51276											
REG1B	5968	broad.mit.edu	37	chr2	79312665	79312665	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccagcattagcactgctcGgggatccagtgtcccaggac	9	7	12	13	1	0	0	0	0	0	0	3	2	2	2	3	3	4	3	3	3	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:79312665G>C	ENST00000305089.3	-	5	466	c.386C>G	c.(385-387)cCg>cGg	p.P129R		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	129	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AGCACTGCTCGGGGATCCAGT	0.557													15	51					0	0	0	0	C	79312665	G	C	79312665	3	2	290	1	0	0	0	0	1	0	0	0	13293	1116	39	3	122	3	REG1B	2	79312665	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	5535224	79312665	163886708	41	51277											
TGOLN2	10618	broad.mit.edu	37	chr2	85554620	85554620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccgacttgttgggggtgtCttctggggtctgcgcctccg	2	12	15	12	3	3	0	0	0	3	0	4	1	4	0	3	4	1	1	3	4	0	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:85554620C>T	ENST00000377386.3	-	2	697	c.235G>A	c.(235-237)Gac>Aac	p.D79N	TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.D79N|TGOLN2_ENST00000398263.2_Missense_Mutation_p.D79N|TGOLN2_ENST00000444342.2_Missense_Mutation_p.D79N|TGOLN2_ENST00000409015.1_Missense_Mutation_p.D79N			O43493	TGON2_HUMAN	trans-golgi network protein 2	79	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TTGGGGGTGTCTTCTGGGGTC	0.592													127	378					0	0	0	0	T	85554620	C	T	85554620	3	4	290	1	0	0	0	0	1	0	0	0	15930	913	32	2	1090	2	TGOLN2	2	85554620	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	6241955	85554620	157644753	42	51278											
FER1L5	90342	broad.mit.edu	37	chr2	97361322	97361322	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattcggggaagagtcccTgaggacagaacccatcaggg	12	5	15	9	1	1	3	1	1	0	2	3	6	2	6	2	5	1	0	2	5	3	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:97361322T>A	ENST00000457909.1	+	0	3321							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GAAGAGTCCCTGAGGACAGAA	0.592													4	10					0	0	0	0	A	97361322	T	A	97361322	1	1	290	0	1	0	0	0	0	0	0	0	5859	1580	55	5		5	FER1L5	2	97361322	RNA	SNP	T	TCGA-CV-7242-01A-11D-2012-08	11806702	97361322	145838051	43	51279											
CKAP2L	150468	broad.mit.edu	37	chr2	113514482	113514482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttaccatttccttgatCtgttaactgctgctttgtag	8	18	6	9	0	1	1	0	1	1	0	2	1	2	1	2	0	4	4	2	0	3	7			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:113514482C>A	ENST00000302450.6	-	4	544	c.466G>T	c.(466-468)Gat>Tat	p.D156Y	CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	156						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTTCCTTGATCTGTTAACTGC	0.353													15	68					0.000219431	0.000424614	1	0	A	113514482	C	A	113514482	3	1	290	1	0	0	0	0	1	0	0	0	3473	913	32	2	1795	2	CKAP2L	2	113514482	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	16153160	113514482	129684891	44	51280											
ERCC3	2071	broad.mit.edu	37	chr2	128036885	128036885	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggttcatggtgtacagcaAgattcgtttcttggttttga	7	16	13	5	1	2	2	1	1	1	1	3	2	2	2	0	4	2	5	0	4	2	7			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:128036885A>G	ENST00000493187.2	-	10	1865	c.1402T>C	c.(1402-1404)Ttg>Ctg	p.L468L	ERCC3_ENST00000285398.2_Silent_p.L532L			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	532	Helicase ATP-binding.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTGTACAGCAAGATTCGTTTC	0.403			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	38					0	0	0	0	G	128036885	A	G	128036885	2	3	290	1	0	0	0	0	0	0	0	1	5252	69	3	5		5	ERCC3	2	128036885	Silent	SNP	A	TCGA-CV-7242-01A-11D-2012-08	14522403	128036885	115162488	45	51281											
THSD7B	80731	broad.mit.edu	37	chr2	137814036	137814036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcccggaggagtccaGagtcgggcagtgtggtgttt	5	11	18	7	2	0	1	0	0	0	1	3	3	2	3	2	5	0	2	2	5	0	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:137814036G>T	ENST00000409968.1	+	3	364	c.186G>T	c.(184-186)caG>caT	p.Q62H	THSD7B_ENST00000413152.2_Missense_Mutation_p.Q31H|THSD7B_ENST00000272643.3_Missense_Mutation_p.Q62H					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGGAGTCCAGAGTCGGGCAG	0.498													14	51					8.60227e-14	2.04099e-13	1	0	T	137814036	G	T	137814036	3	4	290	1	0	0	0	0	1	0	0	0	15974	933	33	2	99	2	THSD7B	2	137814036	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	9777151	137814036	105385337	46	51282											
THSD7B	80731	broad.mit.edu	37	chr2	137852609	137852609	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacgtgaagcacatggctAttggaggtggaaaggagtgt	12	8	17	4	1	0	1	0	1	0	0	0	5	0	5	0	6	2	2	0	6	4	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:137852609A>G	ENST00000409968.1	+	4	1295	c.1117A>G	c.(1117-1119)Att>Gtt	p.I373V	THSD7B_ENST00000413152.2_Missense_Mutation_p.I342V|THSD7B_ENST00000543459.1_Missense_Mutation_p.I232V|THSD7B_ENST00000272643.3_Missense_Mutation_p.I373V					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCACATGGCTATTGGAGGTGG	0.537													12	41					0	0	0	0	G	137852609	A	G	137852609	3	3	290	1	0	0	0	0	1	0	0	0	15974	449	16	5	1034	5	THSD7B	2	137852609	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	38573	137852609	105346764	47	51283											
ERMN	57471	broad.mit.edu	37	chr2	158178042	158178042	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctatcactcgaacttcaTcttcatcattattgcaatta	12	17	2	10	1	6	0	4	0	2	0	7	1	6	0	0	0	2	1	0	0	5	7			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:158178042T>C	ENST00000410096.1	-	3	887	c.596A>G	c.(595-597)gAt>gGt	p.D199G	ERMN_ENST00000420719.2_Missense_Mutation_p.D179G|ERMN_ENST00000535935.1_Missense_Mutation_p.D93G|ERMN_ENST00000397283.2_Missense_Mutation_p.D212G	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	199						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCGAACTtcatcttcatcatt	0.383													6	110					0	0	0	0	C	158178042	T	C	158178042	3	2	290	1	0	0	0	0	1	0	0	0	5273	1435	50	5	262	5	ERMN	2	158178042	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	20325433	158178042	85021331	48	51284											
ACVR1	90	broad.mit.edu	37	chr2	158594062	158594062	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaacagtcagttttcaatTtgtcgagggaattatcaatt	12	15	8	6	1	4	0	4	0	0	0	5	2	4	1	0	1	1	1	0	1	5	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:158594062T>A	ENST00000263640.3	-	11	1940	c.1511A>T	c.(1510-1512)aAa>aTa	p.K504I	ACVR1_ENST00000409283.2_Missense_Mutation_p.K504I|ACVR1_ENST00000410057.2_Missense_Mutation_p.K504I|ACVR1_ENST00000434821.1_Missense_Mutation_p.K504I	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	504					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AGTTTTCAATTTGTCGAGGGA	0.418													8	46					0	0	0	0	A	158594062	T	A	158594062	3	1	290	1	0	0	0	0	1	0	0	0	220	1841	64	5	22	5	ACVR1	2	158594062	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	416020	158594062	84605311	49	51285											
BAZ2B	29994	broad.mit.edu	37	chr2	160206241	160206241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggtgataaagcaaatGgatttaagccaacaggattc	17	8	11	5	0	0	2	0	1	0	1	1	5	0	4	1	3	3	1	1	3	6	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:160206241G>A	ENST00000392783.2	-	28	5336	c.4841C>T	c.(4840-4842)cCa>cTa	p.P1614L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1578L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1580L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1514L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TAAAGCAAATGGATTTAAGCC	0.433													7	36					0	0	0	0	A	160206241	G	A	160206241	3	1	290	1	0	0	0	0	1	0	0	0	1336	1348	47	4	1705	4	BAZ2B	2	160206241	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	1612179	160206241	82993132	50	51286											
TTN	7273	broad.mit.edu	37	chr2	179411788	179411788	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccttgctaacacctgcAgcattgagtgcataagttct	9	12	9	11	0	1	1	0	1	1	0	1	1	1	1	2	1	5	5	2	1	2	5	rs138888307	by1000genomes	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179411788A>T	ENST00000589042.1	-	340	94688	c.94464T>A	c.(94462-94464)gcT>gcA	p.A31488A	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.A29847A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.A28920A|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.A22548A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.A22615A|TTN_ENST00000460472.2_Silent_p.A22423A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29847	Ig-like 140.						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)			TAACACCTGCAGCATTGAGTG	0.393													52	191					0	0	0	0	T	179411788	A	T	179411788	2	4	290	1	0	0	0	0	0	0	0	1	16831	175	7	5		5	TTN	2	179411788	Silent	SNP	A	TCGA-CV-7242-01A-11D-2012-08	19205547	179411788	63787585	51	51287											
TTN	7273	broad.mit.edu	37	chr2	179411994	179411994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatggcattggcagacaCatggtagacctcaggtctgg	11	8	13	9	0	2	3	1	0	1	3	2	3	2	3	1	5	0	3	1	5	1	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179411994C>T	ENST00000589042.1	-	340	94482	c.94258G>A	c.(94258-94260)Gtg>Atg	p.V31420M	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V29779M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V28852M|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22480M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V22547M|TTN_ENST00000460472.2_Missense_Mutation_p.V22355M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29779	Fibronectin type-III 129.						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)			TTGGCAGACACATGGTAGACC	0.398													42	127					0	0	0	0	T	179411994	C	T	179411994	3	4	290	1	0	0	0	0	1	0	0	0	16831	478	17	4	13813	4	TTN	2	179411994	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	206	179411994	63787379	52	51288											
TTN	7273	broad.mit.edu	37	chr2	179458745	179458745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtactgttctccacaaccaCacagtatttgccggaatctg	10	12	7	12	1	2	0	0	0	2	0	3	1	2	1	3	1	3	3	3	1	4	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179458745C>T	ENST00000589042.1	-	297	58599	c.58375G>A	c.(58375-58377)Gtg>Atg	p.V19459M	TTN_ENST00000591111.1_Missense_Mutation_p.V17818M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16891M|TTN_ENST00000359218.5_Missense_Mutation_p.V10519M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10586M|TTN_ENST00000460472.2_Missense_Mutation_p.V10394M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17818	Fibronectin type-III 41.						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)			TCCACAACCACACAGTATTTG	0.403													43	147					0	0	0	0	T	179458745	C	T	179458745	3	4	290	1	0	0	0	0	1	0	0	0	16831	478	17	4	49868	4	TTN	2	179458745	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	46751	179458745	63740628	53	51289											
TTN	7273	broad.mit.edu	37	chr2	179571433	179571433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taacatttgggattgggtcaCctccaacttttgcaatgaag	11	13	9	8	0	1	1	1	1	0	0	2	2	2	2	2	2	3	1	2	2	4	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179571433C>A	ENST00000589042.1	-	102	29392	c.29168G>T	c.(29167-29169)gGt>gTt	p.G9723V	TTN_ENST00000591111.1_Missense_Mutation_p.G9406V|TTN_ENST00000342992.6_Missense_Mutation_p.G8479V|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9406	Ig-like 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTGGGTCACCTCCAACTTT	0.368													31	98					2.85442e-18	7.23313e-18	1	0	A	179571433	C	A	179571433	3	1	290	1	0	0	0	0	1	0	0	0	16831	507	18	4	75405	4	TTN	2	179571433	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	112688	179571433	63627940	54	51290											
TTN	7273	broad.mit.edu	37	chr2	179581892	179581892	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatagcaggtgtactgcccGgcatcgcctttgcctacttt	6	12	10	13	2	0	0	0	0	0	0	1	0	0	0	3	2	5	4	3	2	3	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179581892G>T	ENST00000589042.1	-	88	25793	c.25569C>A	c.(25567-25569)gcC>gcA	p.A8523A	TTN_ENST00000591111.1_Silent_p.A8206A|TTN_ENST00000342992.6_Silent_p.A7279A|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8206	Ig-like 68.						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)			TGTACTGCCCGGCATCGCCTT	0.483													19	41					5.35267e-07	1.11389e-06	1	0	T	179581892	G	T	179581892	2	4	290	1	0	0	0	0	0	0	0	1	16831	1103	39	3		3	TTN	2	179581892	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	10459	179581892	63617481	55	51291											
TTN	7273	broad.mit.edu	37	chr2	179595724	179595724	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgaaagtatattctccacTatctttcttttctgtagaaa	11	17	4	9	1	4	1	0	0	4	1	6	2	4	1	1	0	0	2	1	0	6	8			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179595724T>A	ENST00000589042.1	-	60	17892	c.17668A>T	c.(17668-17670)Agt>Tgt	p.S5890C	TTN_ENST00000591111.1_Missense_Mutation_p.S5573C|TTN_ENST00000342992.6_Missense_Mutation_p.S4646C|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5573	Ig-like 40.						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)			TATTCTCCACTATCTTTCTTT	0.378													58	168					0	0	0	0	A	179595724	T	A	179595724	3	1	290	1	0	0	0	0	1	0	0	0	16831	1522	53	5	87073	5	TTN	2	179595724	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	13832	179595724	63603649	56	51292											
FRZB	2487	broad.mit.edu	37	chr2	183723523	183723523	+	Frame_Shift_Del	DEL	C	C	-																															gatatactcaccactgcttgCccctctacagtttccgttac																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:183723523delC	ENST00000295113.4	-	2	1126	c.517delG	c.(517-519)cafs	p.A173fs		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	173					brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A173S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CCACTGCTTGCCCCTCTACAG	0.348													32	120	---	---	---	---					-	183723523	C	-	183723523	7	5	290	1	0	1	0	1	0	0	0	0	6113	739	26	0	480	0	FRZB	2	183723523	Frame_Shift_Del	DEL	C	TCGA-CV-7242-01A-11D-2012-08	4127799	183723523	59475850	57	51293											
PMS1	5378	broad.mit.edu	37	chr2	190670532	190670532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaccttttctgtcttaattGttggtttaaaaaaaaaaagt	14	18	5	4	0	2	0	0	0	2	0	2	0	2	0	1	1	1	2	1	1	8	8			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:190670532G>T	ENST00000409985.1	+	4	634	c.470G>T	c.(469-471)tGt>tTt	p.C157F	PMS1_ENST00000374826.4_Intron|PMS1_ENST00000418224.3_Intron|PMS1_ENST00000409823.3_Intron|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000421722.1_Intron|PMS1_ENST00000441310.2_Intron			P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	0					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGTCTTAATTGTTGGTTTAAA	0.353			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					6	17					0.00116845	0.00221499	1	0	T	190670532	G	T	190670532	3	4	290	1	0	0	0	0	1	0	0	0	12214	1392	48	4		4	PMS1	2	190670532	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	6947009	190670532	52528841	58	51294											
GTF3C3	9330	broad.mit.edu	37	chr2	197650199	197650199	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catactgtttgttagaaataTatagttcagctgctatgtta	12	17	7	5	0	1	1	1	0	0	1	1	1	1	1	0	0	3	6	0	0	8	9	rs138093114		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:197650199T>C	ENST00000263956.3	-	7	1096	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	GTF3C3_ENST00000409364.3_Missense_Mutation_p.Y336C|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	336						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTTAGAAATATATAGTTCAGC	0.358													8	33					0	0	0	0	C	197650199	T	C	197650199	3	2	290	1	0	0	0	0	1	0	0	0	6924	1406	49	5	1701	5	GTF3C3	2	197650199	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	6979667	197650199	45549174	59	51295											
WDR12	55759	broad.mit.edu	37	chr2	203747437	203747437	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactaataaattcttaccccTgtgtctgtccagtctacact	11	14	4	12	0	3	0	0	0	3	0	4	0	4	0	3	0	3	0	3	0	6	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:203747437T>C	ENST00000261015.3	-	12	1940	c.1191A>G	c.(1189-1191)acA>acG	p.T397T		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	397	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TTCTTACCCCTGTGTCTGTCC	0.363													3	103					0	0	0	0	C	203747437	T	C	203747437	2	2	290	1	0	0	0	0	0	0	0	1	17370	1567	55	5		5	WDR12	2	203747437	Silent	SNP	T	TCGA-CV-7242-01A-11D-2012-08	6097238	203747437	39451936	60	51296											
INO80D	54891	broad.mit.edu	37	chr2	206869167	206869167	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgttactgtgaagcctgtAggaggggctatagagctgtg	8	11	15	7	0	0	2	0	1	0	1	0	3	0	3	2	3	3	4	2	3	5	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:206869167A>G	ENST00000403263.1	-	11	3413	c.3009T>C	c.(3007-3009)ccT>ccC	p.P1003P		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	0					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGAAGCCTGTAGGAGGGGCTA	0.547													3	11					0	0	0	0	G	206869167	A	G	206869167	2	3	290	1	0	0	0	0	0	0	0	1	7802	407	15	5		5	INO80D	2	206869167	Silent	SNP	A	TCGA-CV-7242-01A-11D-2012-08	3121730	206869167	36330206	61	51297											
MDH1B	130752	broad.mit.edu	37	chr2	207620218	207620218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaattaggttgtagcaggcaGgagcagaggcactgataaaa	15	7	14	5	0	0	2	0	1	0	1	0	4	0	3	0	4	2	6	0	4	5	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:207620218G>A	ENST00000374412.3	-	5	700	c.425C>T	c.(424-426)cCt>cTt	p.P142L	MDH1B_ENST00000454776.2_Missense_Mutation_p.P142L|MDH1B_ENST00000449792.1_Missense_Mutation_p.P44L|MDH1B_ENST00000392214.2_Intron	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	142					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GTAGCAGGCAGGAGCAGAGGC	0.398													21	51					0	0	0	0	A	207620218	G	A	207620218	3	1	290	1	0	0	0	0	1	0	0	0	9478	1000	35	4	1163	4	MDH1B	2	207620218	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	751051	207620218	35579155	62	51298											
CPO	130749	broad.mit.edu	37	chr2	207834010	207834010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttctgccagaagctcaGatccagcccacctgtgagga	9	10	10	12	0	2	3	1	1	1	2	3	4	3	4	4	1	3	2	4	1	1	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:207834010G>T	ENST00000272852.3	+	9	1021	c.975G>T	c.(973-975)caG>caT	p.Q325H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	325					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CAGAAGCTCAGATCCAGCCCA	0.527													12	48					1.08611e-07	2.29221e-07	1	0	T	207834010	G	T	207834010	3	4	290	1	0	0	0	0	1	0	0	0	3850	933	33	2	1009	2	CPO	2	207834010	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	213792	207834010	35365363	63	51299											
SLC4A3	6508	broad.mit.edu	37	chr2	220501488	220501488	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtccttgccctggtggcCgccgaaggcagcttcctggt	3	11	13	14	3	0	0	0	0	0	0	3	1	2	0	5	4	2	2	5	4	1	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:220501488C>T	ENST00000358055.3	+	16	2939	c.2427C>T	c.(2425-2427)gcC>gcT	p.A809A	SLC4A3_ENST00000317151.3_Silent_p.A809A|SLC4A3_ENST00000373760.2_Silent_p.A809A|SLC4A3_ENST00000373762.3_Silent_p.A836A|SLC4A3_ENST00000273063.6_Silent_p.A836A			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	809	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTGGTGGCCGCCGAAGGCA	0.582													31	97					0	0	0	0	T	220501488	C	T	220501488	2	4	290	1	0	0	0	0	0	0	0	1	14743	639	23	1		1	SLC4A3	2	220501488	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	12667478	220501488	22697885	64	51300											
NMUR1	10316	broad.mit.edu	37	chr2	232390111	232390111	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgtggaacggggcccagcaGatgccaaacaccacgaccag	12	2	13	14	3	0	1	0	0	0	1	0	3	0	2	4	3	4	1	4	3	2	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:232390111G>C	ENST00000305141.4	-	3	1057	c.924C>G	c.(922-924)atC>atG	p.I308M		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	308					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGCCCAGCAGATGCCAAACA	0.657													7	36					0	0	0	0	C	232390111	G	C	232390111	3	2	290	1	0	0	0	0	1	0	0	0	10576	932	33	2	360	2	NMUR1	2	232390111	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	11888623	232390111	10809262	65	51301											
ALPP	250	broad.mit.edu	37	chr2	233246046	233246046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgtgctcaaggacggCgcccggccggatgttaccga	7	7	15	12	5	1	0	1	0	0	0	1	3	1	2	3	5	2	3	3	5	3	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:233246046C>T	ENST00000392027.2	+	10	1547	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	426						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.G426G(2)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCAAGGACGGCGCCCGGCCGG	0.697													10	33					0	0	0	0	T	233246046	C	T	233246046	2	4	290	1	0	0	0	0	0	0	0	1	548	755	27	1		1	ALPP	2	233246046	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	855935	233246046	9953327	66	51302											
C2orf54	79919	broad.mit.edu	37	chr2	241831032	241831032	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctgccctcagggaatccGggcatctgctgcaccccctc	7	7	10	17	1	2	0	1	0	1	0	4	1	3	1	4	2	4	4	4	2	2	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:241831032G>T	ENST00000307486.8	-	2	314	c.216C>A	c.(214-216)ccC>ccA	p.P72P	C2orf54_ENST00000402775.2_Silent_p.P53P|C2orf54_ENST00000388934.4_Silent_p.P221P			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	221										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CAGGGAATCCGGGCATCTGCT	0.657													32	93					9.04072e-19	2.30662e-18	1	0	T	241831032	G	T	241831032	2	4	290	1	0	0	0	0	0	0	0	1	2195	1103	39	3		3	C2orf54	2	241831032	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	8584986	241831032	1368341	67	51303											
C3orf20	84077	broad.mit.edu	37	chr3	14769945	14769945	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagcatcttctgttaacaGgtctgtttaccattgaatat	11	15	7	8	0	3	1	0	1	3	0	3	1	3	1	1	1	4	4	1	1	4	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:14769945G>T	ENST00000253697.3	+	12	2142		c.e12-1		C3orf20_ENST00000412910.1_Splice_Site|C3orf20_ENST00000435614.1_Splice_Site	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20							cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCTGTTAACAGGTCTGTTTAC	0.507													19	35					1.33834e-09	2.9763e-09	1	0	T	14769945	G	T	14769945	5	4	290	1	0	0	0	0	0	0	1	0	2233	1014	35	4	1728	4	C3orf20	3	14769945	Splice_Site	SNP	G	TCGA-CV-7242-01A-11D-2012-08		14769945	183252485	68	51304											
EPHA6	285220	broad.mit.edu	37	chr3	96533514	96533514	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagctccccggcgccgcAggcagcgtcctcctccgaag	6	4	14	17	5	0	0	0	0	0	0	4	3	4	1	6	3	2	3	6	3	1	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:96533514A>T	ENST00000389672.5	+	1	85	c.47A>T	c.(46-48)cAg>cTg	p.Q16L	EPHA6_ENST00000470610.2_Missense_Mutation_p.Q16L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCGGCGCCGCAGGCAGCGTCC	0.711													14	24					0	0	0	0	T	96533514	A	T	96533514	3	4	290	1	0	0	0	0	1	0	0	0	5209	188	7	5	49	5	EPHA6	3	96533514	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	81763569	96533514	101488916	69	51305											
EPHA6	285220	broad.mit.edu	37	chr3	97439201	97439201	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctatggcattgtcatgTgggaggtcatgtcctatgga	8	12	15	6	0	2	0	2	0	0	0	3	3	3	3	1	5	1	2	1	5	2	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:97439201T>A	ENST00000389672.5	+	15	2919	c.2881T>A	c.(2881-2883)Tgg>Agg	p.W961R		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	866	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATTGTCATGTGGGAGGTCAT	0.463													16	60					0	0	0	0	A	97439201	T	A	97439201	3	1	290	1	0	0	0	0	1	0	0	0	5209	1696	59	5	3056	5	EPHA6	3	97439201	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	905687	97439201	100583229	70	51306											
DPPA4	55211	broad.mit.edu	37	chr3	109049491	109049491	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaactgtattaactccctCaaggagagcagtggaatttt	13	11	8	9	0	1	1	1	0	0	1	2	3	2	2	1	2	3	2	1	2	5	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:109049491C>A	ENST00000335658.6	-	5	613	c.559G>T	c.(559-561)Gag>Tag	p.E187*	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	187						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTAACTCCCTCAAGGAGAGCA	0.577													20	75					8.00594e-06	1.61201e-05	1	0	A	109049491	C	A	109049491	4	1	290	1	0	0	0	0	0	1	0	0	4772	835	29	2	367	2	DPPA4	3	109049491	Nonsense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	11610290	109049491	88972939	71	51307											
POLQ	10721	broad.mit.edu	37	chr3	121208845	121208845	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacatgtctgatgttctTgattcccattctggaaatta	10	16	8	7	0	3	2	0	2	3	0	4	4	4	4	1	2	1	1	1	2	3	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:121208845T>C	ENST00000264233.5	-	16	3061	c.2933A>G	c.(2932-2934)cAa>cGa	p.Q978R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	978					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGATGTTCTTGATTCCCATT	0.353								DNA polymerases (catalytic subunits)					16	44					0	0	0	0	C	121208845	T	C	121208845	3	2	290	1	0	0	0	0	1	0	0	0	12280	1812	63	5	4899	5	POLQ	3	121208845	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	12159354	121208845	76813585	72	51308											
COL6A6	131873	broad.mit.edu	37	chr3	130287207	130287207	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccaagggcgcccggccCaacatcagaaagtttctcat	11	6	8	16	2	2	1	2	0	1	1	3	1	2	1	4	2	1	1	4	2	3	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:130287207C>A	ENST00000358511.6	+	5	2191	c.2160C>A	c.(2158-2160)ccC>ccA	p.P720P	COL6A6_ENST00000453409.2_Silent_p.P720P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	720	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCGCCCGGCCCAACATCAGAA	0.498													32	95					1.61788e-16	4.03117e-16	1	0	A	130287207	C	A	130287207	2	1	290	1	0	0	0	0	0	0	0	1	3733	581	21	4		4	COL6A6	3	130287207	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	9078362	130287207	67735223	73	51309											
ATR	545	broad.mit.edu	37	chr3	142184024	142184024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acatcatgatgtagaactttCcatctgagccttttaaagaa	14	13	6	8	0	2	4	1	2	1	2	3	4	3	4	2	0	2	1	2	0	5	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:142184024C>T	ENST00000350721.4	-	41	7077	c.6956G>A	c.(6955-6957)gGa>gAa	p.G2319E	ATR_ENST00000383101.3_Missense_Mutation_p.G2255E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2319					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTAGAACTTTCCATCTGAGCC	0.333								Other conserved DNA damage response genes					8	24					0	0	0	0	T	142184024	C	T	142184024	3	4	290	1	0	0	0	0	1	0	0	0	1208	855	30	2	1006	2	ATR	3	142184024	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	11896817	142184024	55838406	74	51310											
NLGN1	22871	broad.mit.edu	37	chr3	173997383	173997383	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttgcaatttctccaaaaAtgatgtgatgctgagtgcag	11	13	9	8	0	1	3	0	3	1	0	3	3	2	3	2	0	3	3	2	0	3	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:173997383A>G	ENST00000457714.1	+	6	2021	c.1592A>G	c.(1591-1593)aAt>aGt	p.N531S	NLGN1_ENST00000361589.4_Missense_Mutation_p.N531S|NLGN1_ENST00000401917.3_Missense_Mutation_p.N571S|NLGN1_ENST00000545397.1_Missense_Mutation_p.N531S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	548					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTCTCCAAAAATGATGTGATG	0.408													11	62					0	0	0	0	G	173997383	A	G	173997383	3	3	290	1	0	0	0	0	1	0	0	0	10531	101	4	5	1606	5	NLGN1	3	173997383	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	31813359	173997383	24025047	75	51311											
LSG1	55341	broad.mit.edu	37	chr3	194365325	194365325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggaaaaaagttttgtcaaCgatattttcaatctgctttg	13	16	7	5	1	3	0	2	0	1	0	3	2	3	1	0	1	2	2	0	1	6	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:194365325C>T	ENST00000265245.5	-	13	2088	c.1774G>A	c.(1774-1776)Gtt>Att	p.V592I	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	592					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GTTTTGTCAACGATATTTTCA	0.328													9	42					0	0	0	0	T	194365325	C	T	194365325	3	4	290	1	0	0	0	0	1	0	0	0	9113	536	19	1	210	1	LSG1	3	194365325	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	20367942	194365325	3657105	76	51312											
WHSC1	7468	broad.mit.edu	37	chr4	1936943	1936943	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagatgctgaagctgaggAcacacccaggaaaagactca	17	4	11	9	0	1	5	1	2	0	3	1	7	1	7	1	2	2	2	1	2	4	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:1936943A>T	ENST00000503128.1	+	7	1835	c.1628A>T	c.(1627-1629)gAc>gTc	p.D543V	WHSC1_ENST00000398261.1_Missense_Mutation_p.D543V|WHSC1_ENST00000508803.1_Missense_Mutation_p.D543V|WHSC1_ENST00000382891.5_Missense_Mutation_p.D543V|WHSC1_ENST00000382892.2_Missense_Mutation_p.D543V|WHSC1_ENST00000382895.3_Missense_Mutation_p.D543V|WHSC1_ENST00000514045.1_Missense_Mutation_p.D543V|WHSC1_ENST00000420906.2_Missense_Mutation_p.D543V			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	543					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAAGCTGAGGACACACCCAGG	0.458			T	IGH@	MM								15	39					0	0	0	0	T	1936943	A	T	1936943	3	4	290	1	0	0	0	0	1	0	0	0	17458	275	10	5	1650	5	WHSC1	4	1936943	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08		1936943	189217333	77	51313											
ABLIM2	84448	broad.mit.edu	37	chr4	8037890	8037890	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatacctcgccgtagctctGcctgtcccctgcagagtggc	5	9	10	17	2	1	1	0	0	1	1	3	1	2	1	6	1	4	3	6	1	2	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:8037890G>A	ENST00000318888.4	-	10	1175	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	ABLIM2_ENST00000428004.2_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000407564.3_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000514025.1_Nonsense_Mutation_p.Q102*|ABLIM2_ENST00000447017.2_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000296372.8_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000361737.5_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000361581.5_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000545242.1_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000341937.5_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000546334.1_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000505872.1_Nonsense_Mutation_p.Q345*			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	345	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCGTAGCTCTGCCTGTCCCCT	0.592													4	13					0	0	0	0	A	8037890	G	A	8037890	4	1	290	1	0	0	0	0	0	1	0	0	95	1328	46	4	1006	4	ABLIM2	4	8037890	Nonsense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	6100947	8037890	183116386	78	51314											
DCAF16	54876	broad.mit.edu	37	chr4	17805350	17805350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctccatttagagtggCatgatctctagagagccggc	9	10	12	10	1	1	3	0	1	1	2	3	4	2	3	2	2	2	2	2	2	2	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:17805350C>A	ENST00000382247.1	-	3	1475	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S	DCAF16_ENST00000536863.1_Missense_Mutation_p.A139S	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	139						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TTTAGAGTGGCATGATCTCTA	0.488													38	105					1.47197e-15	3.6192e-15	1	0	A	17805350	C	A	17805350	3	1	290	1	0	0	0	0	1	0	0	0	4301	710	25	4	239	4	DCAF16	4	17805350	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	9767460	17805350	173348926	79	51315											
SGCB	6443	broad.mit.edu	37	chr4	52895030	52895030	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcatgccgatgtcacttgTaatagaagttttgttgtttt	8	18	9	6	1	1	1	1	0	0	1	1	2	1	1	1	0	2	5	1	0	3	8	rs116157710	by1000genomes	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:52895030T>C	ENST00000381431.5	-	4	709	c.487A>G	c.(487-489)Aca>Gca	p.T163A	SGCB_ENST00000535450.1_Missense_Mutation_p.T93A	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	163	Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATGTCACTTGTAATAGAAGTT	0.343													3	49					0	0	0	0	C	52895030	T	C	52895030	3	2	290	1	0	0	0	0	1	0	0	0	14287	1638	57	5	481	5	SGCB	4	52895030	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	35089680	52895030	138259246	80	51316											
KIAA1211	57482	broad.mit.edu	37	chr4	57190366	57190366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagaagaggcccgagactGcagtgtccaggcttgagcgc	11	5	15	10	2	0	4	0	1	0	3	1	6	1	4	2	2	2	2	2	2	2	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:57190366G>A	ENST00000504228.1	+	8	3580	c.3475G>A	c.(3475-3477)Gca>Aca	p.A1159T	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A1159T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A1152T			Q6ZU35	K1211_HUMAN	KIAA1211	1159										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCCCGAGACTGCAGTGTCCAG	0.547													19	60					0	0	0	0	A	57190366	G	A	57190366	3	1	290	1	0	0	0	0	1	0	0	0	8266	1319	46	4	3501	4	KIAA1211	4	57190366	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	4295336	57190366	133963910	81	51317											
NPFFR2	10886	broad.mit.edu	37	chr4	73012694	73012694	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatatttgtgtttaattgcaGgttccagtgtgtggtctacc	7	18	10	6	0	1	0	0	0	1	0	2	0	2	0	2	2	2	3	2	2	4	8			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:73012694G>C	ENST00000308744.6	+	4	832		c.e4-1		NPFFR2_ENST00000344413.5_Splice_Site|NPFFR2_ENST00000506359.1_Splice_Site|NPFFR2_ENST00000395999.1_Splice_Site|NPFFR2_ENST00000358749.3_Splice_Site	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2						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)			TTTAATTGCAGGTTCCAGTGT	0.398													39	126					0	0	0	0	C	73012694	G	C	73012694	5	2	290	1	0	0	0	0	0	0	1	0	10648	1014	35	4	754	4	NPFFR2	4	73012694	Splice_Site	SNP	G	TCGA-CV-7242-01A-11D-2012-08	15822328	73012694	118141582	82	51318											
CCDC158	339965	broad.mit.edu	37	chr4	77303790	77303790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccatttgactctggataCtattggcttggcttcgagca	7	16	9	9	1	1	1	0	1	1	0	3	3	2	2	1	3	2	3	1	3	2	7			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:77303790C>A	ENST00000388914.3	-	7	1039	c.887G>T	c.(886-888)aGt>aTt	p.S296I	CCDC158_ENST00000434846.2_Missense_Mutation_p.S296I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	296										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ACTCTGGATACTATTGGCTTG	0.333													12	38					0.00010058	0.000196157	1	0	A	77303790	C	A	77303790	3	1	290	1	0	0	0	0	1	0	0	0	2816	565	20	4	2526	4	CCDC158	4	77303790	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	4291096	77303790	113850486	83	51319											
HERC5	51191	broad.mit.edu	37	chr4	89414186	89414186	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatttagtggagaaattggGtatgacctcggaggagtcaa	12	11	13	5	1	2	2	2	1	0	1	3	5	2	4	1	4	0	1	1	4	4	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:89414186G>A	ENST00000264350.3	+	17	2310	c.2157G>A	c.(2155-2157)ggG>ggA	p.G719G	HERC5_ENST00000508159.1_Silent_p.G357G	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	719	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAGAAATTGGGTATGACCTCG	0.403													12	50					0	0	0	0	A	89414186	G	A	89414186	2	1	290	1	0	0	0	0	0	0	0	1	7111	1248	44	4		4	HERC5	4	89414186	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	12110396	89414186	101740090	84	51320											
MMRN1	22915	broad.mit.edu	37	chr4	90856410	90856410	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatcaactgaacaggtaTcagaccagaagaatgctcca	15	10	7	9	0	2	4	2	1	0	3	3	4	3	4	2	1	3	2	2	1	6	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:90856410T>A	ENST00000394980.1	+	7	1898	c.1579T>A	c.(1579-1581)Tca>Aca	p.S527T	MMRN1_ENST00000508372.1_Missense_Mutation_p.S269T|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.S527T			Q13201	MMRN1_HUMAN	multimerin 1	527					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGAACAGGTATCAGACCAGAA	0.363													18	62					0	0	0	0	A	90856410	T	A	90856410	3	1	290	1	0	0	0	0	1	0	0	0	9740	1435	50	5	1601	5	MMRN1	4	90856410	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	1442224	90856410	100297866	85	51321											
UNC5C	8633	broad.mit.edu	37	chr4	96140416	96140416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagggcatagacaggtcctCtgtacatggctgcagctgac	9	8	13	11	0	1	2	0	1	1	1	2	2	2	2	1	3	3	6	1	3	2	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:96140416C>G	ENST00000453304.1	-	9	1697	c.1349G>C	c.(1348-1350)aGa>aCa	p.R450T	UNC5C_ENST00000506749.1_Missense_Mutation_p.R469T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	450					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GACAGGTCCTCTGTACATGGC	0.493													84	224					0	0	0	0	G	96140416	C	G	96140416	3	3	290	1	0	0	0	0	1	0	0	0	17089	913	32	2	1478	2	UNC5C	4	96140416	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	5284006	96140416	95013860	86	51322											
ADH7	131	broad.mit.edu	37	chr4	100349102	100349102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactggtttgcccttgcatGtaaatctggtggtgccatca	7	13	12	9	0	2	0	1	0	1	0	2	1	2	1	2	4	3	3	2	4	2	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:100349102G>T	ENST00000437033.2	-	5	895	c.392C>A	c.(391-393)aCa>aAa	p.T131K	ADH7_ENST00000209665.4_Missense_Mutation_p.T143K|ADH7_ENST00000482593.1_Missense_Mutation_p.T74K|ADH7_ENST00000476959.1_Missense_Mutation_p.T151K			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	143					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GCCCTTGCATGTAAATCTGGT	0.403													26	90					7.26314e-15	1.75683e-14	1	0	T	100349102	G	T	100349102	3	4	290	1	0	0	0	0	1	0	0	0	313	1377	48	4	752	4	ADH7	4	100349102	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	4208686	100349102	90805174	87	51323											
ALPK1	80216	broad.mit.edu	37	chr4	113351810	113351811	+	Frame_Shift_Ins	INS	-	-	G																															cagtgcacagaaggctccatINSggggagacagggacggtcca																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:113351810_113351811insG	ENST00000458497.1	+	11	1386_1387	c.1107_1108insG	c.(1105-1110)cagggafs	p.QG369fs	ALPK1_ENST00000504176.2_Frame_Shift_Ins_p.QG291fs|ALPK1_ENST00000177648.9_Frame_Shift_Ins_p.QG369fs	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	369							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GAAGGCTCCATGGGGAGACAGG	0.515													21	57	---	---	---	---					G	113351811	-	G	113351810	7	5	290	1	0	1	1	0	0	0	0	0	544	1461	51	0	1141	0	ALPK1	4	113351810	Frame_Shift_Ins	INS	-	TCGA-CV-7242-01A-11D-2012-08	13002708	113351810	77802466	88	51324											
GRIA2	2891	broad.mit.edu	37	chr4	158281238	158281238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgcgacaccatgaaagttgGtggaaacctggattccaaag	13	9	11	8	1	0	1	0	1	0	0	1	4	1	3	3	3	2	1	3	3	3	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:158281238G>T	ENST00000296526.7	+	13	2559	c.2234G>T	c.(2233-2235)gGt>gTt	p.G745V	GRIA2_ENST00000393815.2_Missense_Mutation_p.G698V|GRIA2_ENST00000507898.1_Missense_Mutation_p.G698V|GRIA2_ENST00000449365.1_Missense_Mutation_p.G698V|GRIA2_ENST00000264426.9_Missense_Mutation_p.G745V	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	745					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATGAAAGTTGGTGGAAACCTG	0.438													14	56					2.31682e-05	4.61506e-05	1	0	T	158281238	G	T	158281238	3	4	290	1	0	0	0	0	1	0	0	0	6818	1261	44	4	2284	4	GRIA2	4	158281238	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	44929428	158281238	32873038	89	51325											
FSTL5	56884	broad.mit.edu	37	chr4	162380450	162380450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcatagtgtaatttaactgGgacagggtctgtgctcactg	9	13	12	7	0	3	0	2	0	1	0	3	1	3	1	0	2	2	2	0	2	3	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:162380450G>C	ENST00000306100.5	-	14	2066	c.1630C>G	c.(1630-1632)Cca>Gca	p.P544A	FSTL5_ENST00000427802.2_Missense_Mutation_p.P534A|FSTL5_ENST00000379164.4_Missense_Mutation_p.P543A|FSTL5_ENST00000536695.1_Missense_Mutation_p.P543A	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	544						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATTTAACTGGGACAGGGTCT	0.378													10	56					0	0	0	0	C	162380450	G	C	162380450	3	2	290	1	0	0	0	0	1	0	0	0	6128	1232	43	4	925	4	FSTL5	4	162380450	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	4099212	162380450	28773826	90	51326											
TKTL2	84076	broad.mit.edu	37	chr4	164393884	164393884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaataactctttcatttgCacggcccagtttagccagag	12	11	7	11	1	2	1	1	0	1	1	2	1	2	1	2	1	4	2	2	1	4	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:164393884C>A	ENST00000280605.3	-	1	1163	c.1003G>T	c.(1003-1005)Gca>Tca	p.A335S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	335						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ctttcatttgcacggcccagt	0.418													32	105					1.62565e-12	3.82053e-12	1	0	A	164393884	C	A	164393884	3	1	290	1	0	0	0	0	1	0	0	0	16030	710	25	4	881	4	TKTL2	4	164393884	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	2013434	164393884	26760392	91	51327											
CYP4V2	285440	broad.mit.edu	37	chr4	187120147	187120147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcgaagaataaagatgccCtggctttggcttgatctctg	9	14	10	8	1	1	3	0	1	1	2	3	4	1	3	1	2	1	2	1	2	4	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:187120147C>T	ENST00000378802.4	+	6	1015	c.711C>T	c.(709-711)ccC>ccT	p.P237P		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	237					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TAAAGATGCCCTGGCTTTGGC	0.368													15	55					0	0	0	0	T	187120147	C	T	187120147	2	4	290	1	0	0	0	0	0	0	0	1	4224	668	24	4		4	CYP4V2	4	187120147	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	22726263	187120147	4034129	92	51328											
FAT1	2195	broad.mit.edu	37	chr4	187629394	187629394	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtataaacccgaggcaTcagttcgtagtccaggtttt	11	11	10	9	2	1	1	1	0	0	1	3	2	2	1	2	2	1	5	2	2	4	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:187629394T>A	ENST00000441802.2	-	2	1797	c.1588A>T	c.(1588-1590)Atg>Ttg	p.M530L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	530	Cadherin 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCCGAGGCATCAGTTCGTAG	0.473										HNSCC(5;0.00058)			24	65					0	0	0	0	A	187629394	T	A	187629394	3	1	290	1	0	0	0	0	1	0	0	0	5734	1435	50	5	12282	5	FAT1	4	187629394	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	509247	187629394	3524882	93	51329											
CTNND2	1501	broad.mit.edu	37	chr5	11082934	11082934	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctttctcttttcggaCagcggctcggatatatactg	7	13	10	11	3	1	0	0	0	1	0	4	2	1	2	1	4	2	1	1	4	3	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:11082934C>G	ENST00000304623.8	-	16	2851	c.2662G>C	c.(2662-2664)Gtc>Ctc	p.V888L	CTNND2_ENST00000458100.2_Missense_Mutation_p.V455L|CTNND2_ENST00000359640.2_Missense_Mutation_p.V830L|CTNND2_ENST00000503622.1_Missense_Mutation_p.V551L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.V797L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	888					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTTTCGGACAGCGGCTCGG	0.532													30	22					0	0	0	0	G	11082934	C	G	11082934	3	3	290	1	0	0	0	0	1	0	0	0	4052	478	17	4	1043	4	CTNND2	5	11082934	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08		11082934	169832326	94	51330											
FGF10	2255	broad.mit.edu	37	chr5	44310549	44310549	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccatagagtttcccctTcttgttcatggctaagtaat	9	15	8	9	0	2	2	1	1	1	1	3	2	3	2	3	1	1	4	3	1	3	7	rs104893887		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:44310549T>C	ENST00000264664.4	-	2	523	c.409A>G	c.(409-411)Aag>Gag	p.K137E		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	137					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGTTTCCCCTTCTTGTTCATG	0.388													9	38					0	0	0	0	C	44310549	T	C	44310549	3	2	290	1	0	0	0	0	1	0	0	0	5884	1792	62	5	225	5	FGF10	5	44310549	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	33227615	44310549	136604711	95	51331											
NLN	57486	broad.mit.edu	37	chr5	65118660	65118660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctgggggatctctggacGgcatggacatgctccacaat	10	8	12	11	1	1	0	0	0	1	0	3	3	2	3	2	5	2	2	2	5	2	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:65118660G>T	ENST00000380985.5	+	13	2210	c.2032G>T	c.(2032-2034)Ggc>Tgc	p.G678C	NLN_ENST00000515595.1_3'UTR|NLN_ENST00000502464.1_Missense_Mutation_p.G574C	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	678					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ATCTCTGGACGGCATGGACAT	0.413													28	42					7.26314e-15	1.75683e-14	1	0	T	65118660	G	T	65118660	3	4	290	1	0	0	0	0	1	0	0	0	10537	1116	39	3	2082	3	NLN	5	65118660	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	20808111	65118660	115796600	96	51332											
CAMK4	814	broad.mit.edu	37	chr5	110819999	110819999	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccccaaaatggtgcccaaGgcagtggaggatgggataaa	13	5	14	9	0	0	0	0	0	0	0	0	3	0	3	3	5	1	1	3	5	5	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:110819999G>A	ENST00000282356.4	+	11	1655	c.1257G>A	c.(1255-1257)aaG>aaA	p.K419K	CAMK4_ENST00000512453.1_Silent_p.K419K|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	419					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGGTGCCCAAGGCAGTGGAGG	0.537													15	35					0	0	0	0	A	110819999	G	A	110819999	2	1	290	1	0	0	0	0	0	0	0	1	2630	991	35	4		4	CAMK4	5	110819999	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	45701339	110819999	70095261	97	51333											
PCDHA1	56147	broad.mit.edu	37	chr5	140168241	140168241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaaagaaatgaacaacCagaagcaaatttggatcttt	18	9	8	6	0	2	4	1	1	1	3	2	5	2	5	1	1	3	1	1	1	6	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140168241C>G	ENST00000504120.2	+	1	2366	c.2366C>G	c.(2365-2367)cCa>cGa	p.P789R	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.P789R	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGAACAACCAGAAGCAAAT	0.413													5	13					0	0	0	0	G	140168241	C	G	140168241	3	3	290	1	0	0	0	0	1	0	0	0	11590	594	21	4	2368	4	PCDHA1	5	140168241	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	29348242	140168241	40747019	98	51334											
PCDHA6	56142	broad.mit.edu	37	chr5	140207985	140207985	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcggagcgcggagtgcagCatccacctggaggtgatcgt	7	6	18	10	4	0	1	0	1	0	0	2	4	1	4	2	5	3	2	2	5	0	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140207985C>T	ENST00000529310.1	+	1	423	c.309C>T	c.(307-309)agC>agT	p.S103S	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.S103S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.S103R(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGTGCAGCATCCACCTGG	0.587													58	152					0	0	0	0	T	140207985	C	T	140207985	2	4	290	1	0	0	0	0	0	0	0	1	11599	709	25	4		4	PCDHA6	5	140207985	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	39744	140207985	40707275	99	51335											
PCDHAC2	56134	broad.mit.edu	37	chr5	140346945	140346945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcgagctggaccttaaGcccctgcaggagaacagtaa	12	7	10	12	1	0	1	0	0	0	1	1	4	0	2	3	2	4	3	3	2	3	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140346945G>A	ENST00000289269.5	+	1	1126	c.594G>A	c.(592-594)aaG>aaA	p.K198K	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		198	Cadherin 2.				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)			TGGACCTTAAGCCCCTGCAGG	0.612													5	16					0	0	0	0	A	140346945	G	A	140346945	2	1	290	1	0	0	0	0	0	0	0	1	11604	962	34	4		4	PCDHAC2	5	140346945	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	138960	140346945	40568315	100	51336											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719217	140719217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctatctggcacctccCgcatctgcgtgaaggtcctg	6	10	11	14	2	2	1	0	1	2	0	4	1	4	1	3	2	2	3	3	2	2	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140719217C>T	ENST00000394576.2	+	1	679	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACCTCCCGCATCTGCGT	0.597													14	47					0	0	0	0	T	140719217	C	T	140719217	3	4	290	1	0	0	0	0	1	0	0	0	11625	652	23	1	681	1	PCDHGA2	5	140719217	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	372272	140719217	40196043	101	51337											
SH3TC2	79628	broad.mit.edu	37	chr5	148407522	148407522	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcacctgccttttccaaCagggcggagcctttatgtct	7	11	11	12	1	1	0	0	0	1	0	2	1	2	1	4	3	3	1	4	3	2	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:148407522C>A	ENST00000538184.1	-	7	1302	c.414G>T	c.(412-414)ctG>ctT	p.L138L	SH3TC2_ENST00000512049.1_Silent_p.L584L|SH3TC2_ENST00000394358.2_Silent_p.L476L|SH3TC2_ENST00000515425.1_Silent_p.L591L			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	591							binding			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)			CCTTTTCCAACAGGGCGGAGC	0.562													20	37					1.64113e-05	3.27787e-05	1	0	A	148407522	C	A	148407522	2	1	290	1	0	0	0	0	0	0	0	1	14350	465	17	4		4	SH3TC2	5	148407522	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	7688305	148407522	32507738	102	51338											
KCNMB1	3779	broad.mit.edu	37	chr5	169810615	169810615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcctcggggacagggaCagttaggaacaggctcacac	11	5	13	12	1	2	0	2	0	0	0	3	3	2	3	1	5	2	2	1	5	2	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:169810615C>A	ENST00000521859.1	-	3	773	c.374G>T	c.(373-375)tGt>tTt	p.C125F	KCNMB1_ENST00000274629.4_Intron|KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron			Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	0					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		gGGACAGGGACAGTTAGGAAC	0.557													3	11					6.4e-05	0.000126472	1	0	A	169810615	C	A	169810615	3	1	290	1	0	0	0	0	1	0	0	0	8127	493	17	4		4	KCNMB1	5	169810615	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	21403093	169810615	11104645	103	51339											
NSD1	64324	broad.mit.edu	37	chr5	176710803	176710803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaggaccgaatcattgatGctggtcccaaaggaaactat	13	10	9	9	1	2	1	1	1	1	0	3	4	3	3	2	3	2	1	2	3	5	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:176710803G>A	ENST00000439151.2	+	20	6070	c.6025G>A	c.(6025-6027)Gct>Act	p.A2009T	NSD1_ENST00000347982.4_Missense_Mutation_p.A1740T|NSD1_ENST00000361032.4_Missense_Mutation_p.A1906T|NSD1_ENST00000354179.4_Missense_Mutation_p.A1740T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2009	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AATCATTGATGCTGGTCCCAA	0.443			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			26	72					0	0	0	0	A	176710803	G	A	176710803	3	1	290	1	0	0	0	0	1	0	0	0	10740	1319	46	4	6099	4	NSD1	5	176710803	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	6900188	176710803	4204457	104	51340											
TMEM170B	100113407	broad.mit.edu	37	chr6	11565999	11565999	+	Frame_Shift_Del	DEL	G	G	-																															atgctgcagaggcataggcaGggaagagtcatctctgtcat																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:11565999delG	ENST00000379426.1	+	2	198	c.198delG	c.(196-198)cafs	p.Q66fs	TMEM170B_ENST00000543875.1_Frame_Shift_Del_p.Q66fs	NM_001100829.1	NP_001094299.1	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	66						integral to membrane				large_intestine(3)|lung(5)	8						GGCATAGGCAGGGAAGAGTCA	0.463													33	157	---	---	---	---					-	11565999	G	-	11565999	7	5	290	1	0	1	0	1	0	0	0	0	16181	991	35	0	204	0	TMEM170B	6	11565999	Frame_Shift_Del	DEL	G	TCGA-CV-7242-01A-11D-2012-08		11565999	159549068	105	51341											
OR2B2	81697	broad.mit.edu	37	chr6	27879226	27879226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacctctttgttcctaagtGtatatataaggggattcagc	10	16	8	7	0	2	0	1	0	1	0	3	1	3	1	2	2	2	2	2	2	6	9			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:27879226G>A	ENST00000303324.2	-	1	948	c.872C>T	c.(871-873)aCa>aTa	p.T291I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GTTCCTAAGTGTATATATAAG	0.398													10	44					0	0	0	0	A	27879226	G	A	27879226	3	1	290	1	0	0	0	0	1	0	0	0	11060	1377	48	4	205	4	OR2B2	6	27879226	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	16313227	27879226	143235841	106	51342											
SCAND3	114821	broad.mit.edu	37	chr6	28543800	28543800	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaaccttgctaagcttcTgaagaacttttctctcatgt	10	15	6	10	0	3	2	1	1	2	1	4	2	3	2	1	0	4	3	1	0	4	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:28543800T>A	ENST00000452236.2	-	3	1299	c.682A>T	c.(682-684)Aga>Tga	p.R228*	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	228					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GCTAAGCTTCTGAAGAACTTT	0.348													8	50					0	0	0	0	A	28543800	T	A	28543800	4	1	290	1	0	0	0	0	0	1	0	0	13962	1588	55	5	3303	5	SCAND3	6	28543800	Nonsense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	664574	28543800	142571267	107	51343											
C6orf222	389384	broad.mit.edu	37	chr6	36294357	36294357	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctggacttcttgggtggCcaggcctctggactggaaac	8	9	14	10	0	2	0	0	0	2	0	2	3	2	3	2	6	2	1	2	6	2	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:36294357C>T	ENST00000437635.2	-	5	1143	c.966G>A	c.(964-966)tgG>tgA	p.W322*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	322										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCTTGGGTGGCCAGGCCTCTG	0.572													16	100					0	0	0	0	T	36294357	C	T	36294357	4	4	290	1	0	0	0	0	0	1	0	0	2377	740	26	4	1024	4	C6orf222	6	36294357	Nonsense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	7750557	36294357	134820710	108	51344											
DNAH8	1769	broad.mit.edu	37	chr6	38854730	38854730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtttaaaaagacaatttaCtgtgtttaattgtacattgc	14	16	6	5	1	0	1	0	0	0	1	0	1	0	1	0	0	3	3	0	0	7	9			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:38854730C>A	ENST00000359357.3	+	55	8026	c.7772C>A	c.(7771-7773)aCt>aAt	p.T2591N	DNAH8_ENST00000449981.2_Missense_Mutation_p.T2808N|DNAH8_ENST00000441566.1_Missense_Mutation_p.T2555N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGACAATTTACTGTGTTTAAT	0.338													12	25					4.36969e-10	9.80548e-10	1	0	A	38854730	C	A	38854730	3	1	290	1	0	0	0	0	1	0	0	0	4643	565	20	4	7982	4	DNAH8	6	38854730	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	2560373	38854730	132260337	109	51345											
POLH	5429	broad.mit.edu	37	chr6	43581937	43581937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaactcctgcagagatGgatttggcccacaacagcca	14	6	9	12	0	0	1	0	0	0	1	1	3	1	2	3	2	5	2	3	2	3	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:43581937G>T	ENST00000372236.4	+	11	2080	c.1785G>T	c.(1783-1785)atG>atT	p.M595I	POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Missense_Mutation_p.M533I	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	595			M -> V (in dbSNP:rs9333555).		DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CTGCAGAGATGGATTTGGCCC	0.488								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				12	53					1.61879e-10	3.69939e-10	1	0	T	43581937	G	T	43581937	3	4	290	1	0	0	0	0	1	0	0	0	12274	1348	47	4	1823	4	POLH	6	43581937	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	4727207	43581937	127533130	110	51346											
PHF3	23469	broad.mit.edu	37	chr6	64422632	64422632	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcagcagagtgacaatttAaaagttgcacaaaactcacc	16	9	7	9	0	2	2	2	1	0	1	2	2	2	2	1	0	3	4	1	0	5	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:64422632A>T	ENST00000262043.3	+	16	5488	c.5148A>T	c.(5146-5148)ttA>ttT	p.L1716F	PHF3_ENST00000393387.1_Missense_Mutation_p.L1716F			Q92576	PHF3_HUMAN	PHD finger protein 3	1716					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTGACAATTTAAAAGTTGCAC	0.373													9	27					0	0	0	0	T	64422632	A	T	64422632	3	4	290	1	0	0	0	0	1	0	0	0	11908	359	13	5	5206	5	PHF3	6	64422632	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	20840695	64422632	106692435	111	51347											
COL19A1	1310	broad.mit.edu	37	chr6	70861308	70861308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gattgcacttcctctcttggGagacatcggtgctttgctca	6	14	10	11	1	2	1	1	0	1	1	5	3	3	1	1	2	3	3	1	2	0	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:70861308G>C	ENST00000322773.4	+	31	2159	c.2057G>C	c.(2056-2058)gGa>gCa	p.G686A	COL19A1_ENST00000393344.1_Missense_Mutation_p.G308A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	686	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTCTCTTGGGAGACATCGGT	0.308													16	64					0	0	0	0	C	70861308	G	C	70861308	3	2	290	1	0	0	0	0	1	0	0	0	3706	1174	41	2	2175	2	COL19A1	6	70861308	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	6438676	70861308	100253759	112	51348											
SNAP91	9892	broad.mit.edu	37	chr6	84375158	84375158	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagtttacttagtttacCtcatttccatgcaccatgag	12	14	6	9	0	1	1	1	1	0	0	2	2	2	1	3	0	3	3	3	0	5	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:84375158C>A	ENST00000428679.2	-	3	866	c.273_splice	c.e3+1	p.E91_splice	SNAP91_ENST00000369694.2_Splice_Site_p.E91_splice|SNAP91_ENST00000521743.1_Splice_Site_p.E91_splice|SNAP91_ENST00000520302.1_Splice_Site_p.E91_splice|SNAP91_ENST00000195649.6_Splice_Site_p.E91_splice|SNAP91_ENST00000520213.1_Splice_Site_p.E91_splice|SNAP91_ENST00000521485.1_Splice_Site_p.E91_splice|SNAP91_ENST00000437520.1_Splice_Site_p.E91_splice|SNAP91_ENST00000439399.2_Splice_Site_p.E91_splice			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	91	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CTTAGTTTACCTCATTTCCAT	0.408													53	136					2.84144e-21	7.40164e-21	1	0	A	84375158	C	A	84375158	5	1	290	1	0	0	0	0	0	0	1	0	14921	695	24	4	2554	4	SNAP91	6	84375158	Splice_Site	SNP	C	TCGA-CV-7242-01A-11D-2012-08	13513850	84375158	86739909	113	51349											
HTR1E	3354	broad.mit.edu	37	chr6	87725251	87725251	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatctgttctctggccgtgAcggacctcctggtggcagtg	5	12	13	11	2	2	1	0	1	2	0	4	2	3	2	3	4	0	2	3	4	1	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:87725251A>G	ENST00000305344.4	+	2	902	c.199A>G	c.(199-201)Acg>Gcg	p.T67A	HTR1E_ENST00000369584.1_Missense_Mutation_p.T67A	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	67					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCTGGCCGTGACGGACCTCCT	0.557													29	83					0	0	0	0	G	87725251	A	G	87725251	3	3	290	1	0	0	0	0	1	0	0	0	7492	275	10	5	201	5	HTR1E	6	87725251	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	3350093	87725251	83389816	114	51350											
CASP8AP2	9994	broad.mit.edu	37	chr6	90572117	90572117	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatggtgtttggtcacgttCtcattatcaggttggcgagg	7	15	13	6	2	3	0	3	0	1	0	4	1	3	0	0	5	0	3	0	5	2	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:90572117C>G	ENST00000551025.1	+	0	2126							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGGTCACGTTCTCATTATCAG	0.393													72	173					0	0	0	0	G	90572117	C	G	90572117	1	3	290	0	1	0	0	0	0	0	0	0	2703	913	32	2		2	CASP8AP2	6	90572117	RNA	SNP	C	TCGA-CV-7242-01A-11D-2012-08	2846866	90572117	80542950	115	51351											
FUT9	10690	broad.mit.edu	37	chr6	96652001	96652001	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggaggaaggatttcactGtaaatcttccacgattttgg	11	13	10	7	1	2	0	1	0	1	0	3	4	3	3	1	4	0	1	1	4	3	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:96652001G>C	ENST00000302103.5	+	3	1296	c.970G>C	c.(970-972)Gta>Cta	p.V324L		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	324					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GGATTTCACTGTAAATCTTCC	0.363													15	29					0	0	0	0	C	96652001	G	C	96652001	3	2	290	1	0	0	0	0	1	0	0	0	6159	1377	48	4	972	4	FUT9	6	96652001	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	6079884	96652001	74463066	116	51352											
LAMA2	3908	broad.mit.edu	37	chr6	129802530	129802530	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtccggcatcattcttttGggaagtggagggacaccagc	9	9	14	9	1	2	0	1	0	1	0	3	4	3	3	2	4	1	1	2	4	1	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:129802530G>A	ENST00000421865.2	+	55	7744	c.7695G>A	c.(7693-7695)ttG>ttA	p.L2565L	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2565	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCATTCTTTTGGGAAGTGGAG	0.478													13	66					0	0	0	0	A	129802530	G	A	129802530	2	1	290	1	0	0	0	0	0	0	0	1	8659	1339	47	4		4	LAMA2	6	129802530	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	33150529	129802530	41312537	117	51353											
VNN1	8876	broad.mit.edu	37	chr6	133013716	133013716	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaattgggtgcatagatGccacttcctggaagtaataa	14	10	11	6	0	0	2	0	0	0	2	1	4	1	3	2	2	2	2	2	2	6	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:133013716G>T	ENST00000367928.4	-	5	847	c.834C>A	c.(832-834)ggC>ggA	p.G278G		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	278	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GTGCATAGATGCCACTTCCTG	0.358													9	20					1.58986e-06	3.28102e-06	1	0	T	133013716	G	T	133013716	2	4	290	1	0	0	0	0	0	0	0	1	17278	1306	46	4		4	VNN1	6	133013716	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	3211186	133013716	38101351	118	51354											
AHI1	54806	broad.mit.edu	37	chr6	135639745	135639745	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctcaggaggcagttctTgatacagtgctgaaattgga	11	13	11	6	0	2	2	1	2	2	0	3	4	2	4	0	3	2	3	0	3	3	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:135639745T>G	ENST00000367800.4	-	24	3554	c.3338A>C	c.(3337-3339)cAa>cCa	p.Q1113P	AHI1_ENST00000457866.2_Missense_Mutation_p.Q1113P|AHI1_ENST00000417892.2_Missense_Mutation_p.Q467P	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1113						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AGGCAGTTCTTGATACAGTGC	0.393													3	9					0	0	0	0	G	135639745	T	G	135639745	3	3	290	1	0	0	0	0	1	0	0	0	413	1812	63	5	268	5	AHI1	6	135639745	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	2626029	135639745	35475322	119	51355											
BCLAF1	9774	broad.mit.edu	37	chr6	136590672	136590672	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcccttggaatctccccGttctttacttctttcttttc	4	18	6	13	1	4	0	0	0	4	0	6	2	4	2	3	2	2	1	3	2	2	8	rs140624845		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:136590672G>C	ENST00000531224.1	-	9	2374	c.2122C>G	c.(2122-2124)Cgg>Ggg	p.R708G	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R706G|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R708G|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R706G|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R706G|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R535G|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	708					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAATCTCCCCGTTCTTTACTT	0.388													10	74					0	0	0	0	C	136590672	G	C	136590672	3	2	290	1	0	0	0	0	1	0	0	0	1387	1144	40	3	660	3	BCLAF1	6	136590672	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	950927	136590672	34524395	120	51356											
SHPRH	257218	broad.mit.edu	37	chr6	146262922	146262922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacataatttaattctgaaCgcagtacatcataggtaatg	15	12	7	7	2	2	1	1	1	1	0	2	2	2	1	0	1	2	3	0	1	6	7			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:146262922C>A	ENST00000367503.3	-	10	2725	c.2327G>T	c.(2326-2328)cGt>cTt	p.R776L	SHPRH_ENST00000275233.7_Missense_Mutation_p.R776L|SHPRH_ENST00000438092.2_Missense_Mutation_p.R776L|SHPRH_ENST00000367505.2_Missense_Mutation_p.R776L	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	776	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.R776H(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TAATTCTGAACGCAGTACATC	0.418													6	50					8.12818e-05	0.000159355	1	0	A	146262922	C	A	146262922	3	1	290	1	0	0	0	0	1	0	0	0	14379	536	19	3	2852	3	SHPRH	6	146262922	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	9672250	146262922	24852145	121	51357											
SHPRH	257218	broad.mit.edu	37	chr6	146263002	146263002	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagccatctttcttcactccTtgatatacctaggaaataat	13	14	4	10	0	3	1	1	1	2	0	4	2	4	2	3	1	2	0	3	1	6	7			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:146263002T>G	ENST00000367503.3	-	10	2645	c.2247A>C	c.(2245-2247)caA>caC	p.Q749H	SHPRH_ENST00000275233.7_Missense_Mutation_p.Q749H|SHPRH_ENST00000438092.2_Missense_Mutation_p.Q749H|SHPRH_ENST00000367505.2_Missense_Mutation_p.Q749H	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	749	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCTTCACTCCTTGATATACCT	0.343													3	30					0	0	0	0	G	146263002	T	G	146263002	3	3	290	1	0	0	0	0	1	0	0	0	14379	1606	56	5	2932	5	SHPRH	6	146263002	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	80	146263002	24852065	122	51358											
GRM1	2911	broad.mit.edu	37	chr6	146720036	146720036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtactgtaccgggacacaCcagtggtcaaatcctccagt	10	10	9	12	1	1	0	1	0	0	0	3	1	3	1	4	2	2	2	4	2	3	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:146720036C>A	ENST00000392299.2	+	8	2331	c.1861C>A	c.(1861-1863)Cca>Aca	p.P621T	GRM1_ENST00000361719.2_Missense_Mutation_p.P621T|GRM1_ENST00000282753.1_Missense_Mutation_p.P621T|GRM1_ENST00000492807.2_Missense_Mutation_p.P621T|GRM1_ENST00000507907.1_Missense_Mutation_p.P621T|GRM1_ENST00000355289.4_Missense_Mutation_p.P621T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	621					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCGGGACACACCAGTGGTCAA	0.483													42	195					2.40579e-17	6.03473e-17	1	0	A	146720036	C	A	146720036	3	1	290	1	0	0	0	0	1	0	0	0	6846	507	18	4	1887	4	GRM1	6	146720036	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	457034	146720036	24395031	123	51359											
AKAP12	9590	broad.mit.edu	37	chr6	151673477	151673477	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgaatgtaaaaaggaTgatgctcttgaactgcagag	15	9	12	5	0	1	4	0	3	1	1	1	6	1	5	0	1	4	4	0	1	6	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:151673477T>A	ENST00000402676.2	+	4	4191	c.3951T>A	c.(3949-3951)gaT>gaA	p.D1317E	AKAP12_ENST00000253332.1_Missense_Mutation_p.D1317E|AKAP12_ENST00000359755.5_Missense_Mutation_p.D1212E|AKAP12_ENST00000354675.6_Missense_Mutation_p.D1219E	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1317					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTAAAAAGGATGATGCTCTTG	0.478													23	77					0	0	0	0	A	151673477	T	A	151673477	3	1	290	1	0	0	0	0	1	0	0	0	448	1461	51	5	3990	5	AKAP12	6	151673477	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	4953441	151673477	19441590	124	51360											
INTS1	26173	broad.mit.edu	37	chr7	1515969	1515969	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcaggggcagccgggcctgGatgaggctgcaggcggctgt	6	5	20	10	2	0	1	0	1	0	0	0	2	0	2	2	7	3	5	2	7	0	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:1515969G>A	ENST00000389470.4	-	39	5885	c.5886C>T	c.(5884-5886)atC>atT	p.I1962I	INTS1_ENST00000404767.3_Silent_p.I1758I			Q8N201	INT1_HUMAN	integrator complex subunit 1	1758					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCCGGGCCTGGATGAGGCTGC	0.687													4	6					0	0	0	0	A	1515969	G	A	1515969	2	1	290	1	0	0	0	0	0	0	0	1	7828	1164	41	2		2	INTS1	7	1515969	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08		1515969	157622694	125	51361											
SFRP4	6424	broad.mit.edu	37	chr7	37953821	37953821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagacgacttaccatagcTgtagtttttgctgagatacg	12	12	9	8	2	0	2	0	1	0	2	0	4	0	2	1	0	5	4	1	0	5	6	rs112054297		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:37953821T>C	ENST00000436072.2	-	3	963	c.586A>G	c.(586-588)Agc>Ggc	p.S196G	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	196	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTACCATAGCTGTAGTTTTTG	0.398													16	32					0	0	0	0	C	37953821	T	C	37953821	3	2	290	1	0	0	0	0	1	0	0	0	14250	1580	55	5	470	5	SFRP4	7	37953821	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	36437852	37953821	121184842	126	51362											
ABCB4	5244	broad.mit.edu	37	chr7	87053332	87053332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttttattcagtttcaGgaccttcagaaaggacactg	10	15	8	8	0	4	1	3	0	1	1	4	3	4	3	1	2	0	2	1	2	2	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:87053332G>T	ENST00000265723.4	-	17	2212	c.2101C>A	c.(2101-2103)Ctg>Atg	p.L701M	ABCB4_ENST00000359206.3_Missense_Mutation_p.L701M|ABCB4_ENST00000453593.1_Missense_Mutation_p.L701M|ABCB4_ENST00000545634.1_Missense_Mutation_p.L701M|ABCB4_ENST00000358400.3_Missense_Mutation_p.L701M	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	701					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTCAGTTTCAGGACCTTCAGA	0.453													20	73					5.03518e-11	1.15778e-10	1	0	T	87053332	G	T	87053332	3	4	290	1	0	0	0	0	1	0	0	0	43	991	35	4	1807	4	ABCB4	7	87053332	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	49099511	87053332	72085331	127	51363											
ZNF804B	219578	broad.mit.edu	37	chr7	88966279	88966279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatttttgccatcattcttGctctagccagatgcaacagc	10	13	7	11	0	3	2	1	0	2	2	3	2	3	2	2	0	6	2	2	0	2	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:88966279G>A	ENST00000333190.4	+	4	4592	c.3983G>A	c.(3982-3984)tGc>tAc	p.C1328Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1328						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CATCATTCTTGCTCTAGCCAG	0.393										HNSCC(36;0.09)			16	58					0	0	0	0	A	88966279	G	A	88966279	3	1	290	1	0	0	0	0	1	0	0	0	18264	1319	46	4	3997	4	ZNF804B	7	88966279	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	1912947	88966279	70172384	128	51364											
CLDN12	9069	broad.mit.edu	37	chr7	90042423	90042423	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctatttttcctggcaggtActgtgagcctctccccatct	5	15	8	13	0	2	1	0	1	2	0	4	1	3	1	4	2	3	3	4	2	2	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:90042423A>T	ENST00000535571.1	+	2	742	c.433A>T	c.(433-435)Act>Tct	p.T145S	CLDN12_ENST00000287916.4_Missense_Mutation_p.T145S|CLDN12_ENST00000394605.2_Missense_Mutation_p.T145S	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN	claudin 12	145					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CCTGGCAGGTACTGTGAGCCT	0.488													10	110					0	0	0	0	T	90042423	A	T	90042423	3	4	290	1	0	0	0	0	1	0	0	0	3504	391	14	5	435	5	CLDN12	7	90042423	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	1076144	90042423	69096240	129	51365											
AKAP9	10142	broad.mit.edu	37	chr7	91724387	91724387	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatttgcttaatgacacatTagcaagtgaacagaaaaaat	19	10	6	6	0	0	3	0	2	0	1	0	3	0	3	0	0	3	2	0	0	7	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:91724387T>G	ENST00000359028.2	+	40	9866	c.9641T>G	c.(9640-9642)tTa>tGa	p.L3214*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.L3210*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.L3160*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3214					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATGACACATTAGCAAGTGAA	0.388			T	BRAF	papillary thyroid								4	45					0	0	0	0	G	91724387	T	G	91724387	4	3	290	1	0	0	0	0	0	1	0	0	459	1764	61	5	9787	5	AKAP9	7	91724387	Nonsense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	1681964	91724387	67414276	130	51366											
SGCE	8910	broad.mit.edu	37	chr7	94259126	94259126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgggtatacattccgatcgGagtgtaccttggagaaaata	13	11	11	6	2	0	1	0	0	0	1	2	4	1	2	2	3	2	2	2	3	6	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:94259126G>T	ENST00000415788.2	-	3	332	c.245C>A	c.(244-246)tCc>tAc	p.S82Y	SGCE_ENST00000445866.2_Missense_Mutation_p.S46Y|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000265735.7_Missense_Mutation_p.S46Y|SGCE_ENST00000428696.2_Missense_Mutation_p.S46Y|SGCE_ENST00000447873.1_Missense_Mutation_p.S46Y			O43556	SGCE_HUMAN	sarcoglycan, epsilon	46					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTCCGATCGGAGTGTACCTT	0.398													10	81					0.000442599	0.000847652	1	0	T	94259126	G	T	94259126	3	4	290	1	0	0	0	0	1	0	0	0	14289	1174	41	2	1368	2	SGCE	7	94259126	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	2534739	94259126	64879537	131	51367											
CYP3A4	1576	broad.mit.edu	37	chr7	99358513	99358513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagtttcatgttcatgaGagcaaacctcatgccaatgc	13	10	8	10	0	3	1	3	1	0	1	3	2	3	1	2	0	5	4	2	0	3	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:99358513G>T	ENST00000354593.2	-	7	998	c.895C>A	c.(895-897)Ctc>Atc	p.L299I	CYP3A4_ENST00000336411.2_Missense_Mutation_p.L449I			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	449					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ATGTTCATGAGAGCAAACCTC	0.383													36	85					6.05902e-23	1.6007e-22	1	0	T	99358513	G	T	99358513	3	4	290	1	0	0	0	0	1	0	0	0	4210	942	33	2	174	2	CYP3A4	7	99358513	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	5099387	99358513	59780150	132	51368											
RELN	5649	broad.mit.edu	37	chr7	103270558	103270558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgggaagaatgatacGgttgccaccatctgaactga	11	10	10	10	1	2	4	0	3	2	1	3	5	2	5	2	2	3	1	2	2	4	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:103270558G>C	ENST00000428762.1	-	20	2690	c.2531C>G	c.(2530-2532)cCg>cGg	p.P844R	RELN_ENST00000343529.5_Missense_Mutation_p.P844R|RELN_ENST00000424685.2_Missense_Mutation_p.P844R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	844					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAATGATACGGTTGCCACCA	0.363													11	69					0	0	0	0	C	103270558	G	C	103270558	3	2	290	1	0	0	0	0	1	0	0	0	13302	1116	39	3	8035	3	RELN	7	103270558	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	3912045	103270558	55868105	133	51369											
AASS	10157	broad.mit.edu	37	chr7	121756934	121756934	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctcctgtcccttaccTccagtttgggaaacttcttt	6	16	6	13	0	3	0	1	0	2	0	6	1	5	1	4	1	2	1	4	1	2	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:121756934T>A	ENST00000393376.1	-	6	860	c.766_splice	c.e6+1	p.G255_splice	AASS_ENST00000417368.2_Splice_Site_p.G255_splice|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	255	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTCCCTTACCTCCAGTTTGGG	0.328													31	70					0	0	0	0	A	121756934	T	A	121756934	5	1	290	1	0	0	0	0	0	0	1	0	24	1565	54	5	2087	5	AASS	7	121756934	Splice_Site	SNP	T	TCGA-CV-7242-01A-11D-2012-08	18486376	121756934	37381729	134	51370											
CADPS2	93664	broad.mit.edu	37	chr7	122221318	122221318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacaggccgaggatgggtgGtggtgaaatctccttgagtc	8	9	15	9	1	1	2	0	2	1	0	3	4	1	3	3	5	0	0	3	5	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:122221318G>T	ENST00000334010.7	-	7	1671	c.1250C>A	c.(1249-1251)aCc>aAc	p.T417N	CADPS2_ENST00000449022.2_Missense_Mutation_p.T417N|CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000313070.7_Missense_Mutation_p.T417N|CADPS2_ENST00000412584.2_Missense_Mutation_p.T417N	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	417	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGATGGGTGGTGGTGAAATC	0.443													16	101					3.41278e-10	7.68134e-10	1	0	T	122221318	G	T	122221318	3	4	290	1	0	0	0	0	1	0	0	0	2596	1261	44	4	2780	4	CADPS2	7	122221318	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	464384	122221318	36917345	135	51371											
IQUB	154865	broad.mit.edu	37	chr7	123143292	123143292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttatgatttgagagacatCagttaatccatctattcttc	12	16	6	7	0	3	3	1	2	2	1	5	4	4	3	1	0	0	2	1	0	3	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:123143292C>G	ENST00000466202.1	-	4	1234	c.658G>C	c.(658-660)Gat>Cat	p.D220H	IQUB_ENST00000324698.6_Missense_Mutation_p.D220H|IQUB_ENST00000434450.1_Missense_Mutation_p.D220H|IQUB_ENST00000488987.1_5'UTR			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	220										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGAGAGACATCAGTTAATCCA	0.358													25	84					0	0	0	0	G	123143292	C	G	123143292	3	3	290	1	0	0	0	0	1	0	0	0	7873	826	29	2	1757	2	IQUB	7	123143292	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	921974	123143292	35995371	136	51372											
CNTNAP2	26047	broad.mit.edu	37	chr7	146829568	146829568	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcacatcaacatcacaCagaccaagatgagccaaatc	16	7	6	12	0	3	3	3	1	0	2	4	3	3	3	2	0	2	1	2	0	3	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:146829568C>T	ENST00000361727.3	+	8	1831	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	439	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.Q439K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAACATCACACAGACCAAGAT	0.423										HNSCC(39;0.1)			4	32					0	0	0	0	T	146829568	C	T	146829568	4	4	290	1	0	0	0	0	0	1	0	0	3677	479	17	4	1345	4	CNTNAP2	7	146829568	Nonsense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	23686276	146829568	12309095	137	51373											
CRYGN	155051	broad.mit.edu	37	chr7	151127188	151127188	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctggttttgtggtggcCtcttccggtccttgatctga	2	17	13	9	1	2	2	0	2	2	0	4	2	4	2	3	4	1	3	3	4	0	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:151127188C>G	ENST00000337323.2	-	4	621	c.495G>C	c.(493-495)gaG>gaC	p.E165D	CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	165										central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGTGGTGGCCTCTTCCGGTC	0.532													18	63					0	0	0	0	G	151127188	C	G	151127188	3	3	290	1	0	0	0	0	1	0	0	0	3948	680	24	4	57	4	CRYGN	7	151127188	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	4297620	151127188	8011475	138	51374											
GALNT11	63917	broad.mit.edu	37	chr7	151797963	151797963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatatgcttatcagtgacCgcttgggctaccacagagat	11	12	9	9	1	1	2	1	1	0	1	1	3	1	2	2	1	2	3	2	1	4	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:151797963C>T	ENST00000434507.1	+	5	813	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	GALNT11_ENST00000430044.2_Missense_Mutation_p.R126C|GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000452146.2_Missense_Mutation_p.R45C|GALNT11_ENST00000320311.2_Missense_Mutation_p.R126C|GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000415421.1_Missense_Mutation_p.R126C			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	126						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TATCAGTGACCGCTTGGGCTA	0.408													20	79					0	0	0	0	T	151797963	C	T	151797963	3	4	290	1	0	0	0	0	1	0	0	0	6258	652	23	1	382	1	GALNT11	7	151797963	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	670775	151797963	7340700	139	51375											
CSMD1	64478	broad.mit.edu	37	chr8	2823313	2823313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacctttgcagacaggtttGctcggattccacctgccgtc	8	11	9	13	2	0	1	0	0	0	1	3	2	1	2	4	2	4	3	4	2	1	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:2823313G>T	ENST00000602557.1	-	60	9822	c.9267C>A	c.(9265-9267)agC>agA	p.S3089R	CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.S3088R|CSMD1_ENST00000520002.1_Missense_Mutation_p.S3089R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3089	Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGACAGGTTTGCTCGGATTCC	0.413													7	10					0.000274275	0.000527997	1	0	T	2823313	G	T	2823313	3	4	290	1	0	0	0	0	1	0	0	0	3976	1310	46	4	1478	4	CSMD1	8	2823313	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08		2823313	143540709	140	51376											
LZTS1	11178	broad.mit.edu	37	chr8	20107319	20107319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccggcgctgtccccacGtgccagctgctgcagggcct	3	7	12	19	3	0	0	0	0	0	0	2	0	2	0	6	2	4	4	6	2	0	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:20107319G>A	ENST00000381569.1	-	4	2062	c.1705C>T	c.(1705-1707)Cgt>Tgt	p.R569C	LZTS1_ENST00000265801.6_Missense_Mutation_p.R569C|LZTS1_ENST00000522290.1_Missense_Mutation_p.R510C			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	569					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CTGTCCCCACGTGCCAGCTGC	0.617													18	104					0	0	0	0	A	20107319	G	A	20107319	3	1	290	1	0	0	0	0	1	0	0	0	9203	1145	40	1	89	1	LZTS1	8	20107319	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	17284006	20107319	126256703	141	51377											
TEX15	56154	broad.mit.edu	37	chr8	30703870	30703870	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacatctgcttccatcatcTattgttgtgacattagaagg	12	14	7	8	0	3	2	1	1	2	1	4	2	4	2	1	1	2	2	1	1	4	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:30703870T>C	ENST00000256246.2	-	1	2738	c.2664A>G	c.(2662-2664)atA>atG	p.I888M		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	888										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCCATCATCTATTGTTGTGA	0.328													15	53					0	0	0	0	C	30703870	T	C	30703870	3	2	290	1	0	0	0	0	1	0	0	0	15873	1512	53	5	5721	5	TEX15	8	30703870	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	10596551	30703870	115660152	142	51378											
TACC1	6867	broad.mit.edu	37	chr8	38699961	38699961	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtgttctggaagggttcaAgaaggtagagtgttttttcc	9	14	14	4	0	2	2	1	0	1	2	3	3	3	3	1	4	0	4	1	4	4	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:38699961A>C	ENST00000379931.3	+	11	2532	c.2153A>C	c.(2152-2154)aAg>aCg	p.K718T	TACC1_ENST00000348567.4_Missense_Mutation_p.K268T|TACC1_ENST00000330691.6_Missense_Mutation_p.K280T|TACC1_ENST00000520611.1_Missense_Mutation_p.K143T|TACC1_ENST00000520615.1_Missense_Mutation_p.K511T|TACC1_ENST00000276520.8_Missense_Mutation_p.K296T|TACC1_ENST00000443286.2_Missense_Mutation_p.K693T|TACC1_ENST00000520973.1_Missense_Mutation_p.K482T|TACC1_ENST00000518415.1_Missense_Mutation_p.K632T|TACC1_ENST00000519416.1_Missense_Mutation_p.K510T|TACC1_ENST00000317827.4_Missense_Mutation_p.K706T			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	706	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GAAGGGTTCAAGAAGGTAGAG	0.453													24	63					0	0	0	0	C	38699961	A	C	38699961	3	2	290	1	0	0	0	0	1	0	0	0	15592	72	3	5	2155	5	TACC1	8	38699961	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	7996091	38699961	107664061	143	51379											
KIAA1429	25962	broad.mit.edu	37	chr8	95500951	95500951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttatcgtgtaaaggagcGtacatgacgacctctaccac	11	12	8	10	3	1	1	0	1	1	0	2	3	1	2	2	1	3	2	2	1	5	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:95500951G>A	ENST00000297591.5	-	24	5497	c.5422C>T	c.(5422-5424)Cgc>Tgc	p.R1808C	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1808					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTAAAGGAGCGTACATGACGA	0.438													28	77					0	0	0	0	A	95500951	G	A	95500951	3	1	290	1	0	0	0	0	1	0	0	0	8282	1145	40	1	20	1	KIAA1429	8	95500951	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	56800990	95500951	50863071	144	51380											
CSMD3	114788	broad.mit.edu	37	chr8	113353910	113353910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatttacaaactggagatGtacacctgaagaagaaaaca	21	7	7	6	0	0	4	0	1	0	3	0	5	0	4	1	1	4	1	1	1	9	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:113353910G>T	ENST00000297405.5	-	42	6692	c.6448C>A	c.(6448-6450)Cat>Aat	p.H2150N	CSMD3_ENST00000343508.3_Missense_Mutation_p.H2110N|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2046N|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2080N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2150	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTGGAGATGTACACCTGAA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	14					5.03518e-11	1.15778e-10	1	0	T	113353910	G	T	113353910	3	4	290	1	0	0	0	0	1	0	0	0	3978	1377	48	4	4795	4	CSMD3	8	113353910	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	17852959	113353910	33010112	145	51381											
NDUFB9	4715	broad.mit.edu	37	chr8	125555397	125555397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataagaatgaaaaggatatGgcgaaggccacccagctgct	15	6	11	9	1	0	2	0	1	0	1	0	4	0	3	2	3	2	2	2	3	6	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:125555397G>A	ENST00000522532.1	+	2	218	c.171G>A	c.(169-171)atG>atA	p.M57I	NDUFB9_ENST00000518008.1_Missense_Mutation_p.M57I|NDUFB9_ENST00000517367.1_Missense_Mutation_p.M46I|NDUFB9_ENST00000276689.3_Missense_Mutation_p.M57I			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	57					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.M57I(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	AAAAGGATATGGCGAAGGCCA	0.463													29	24					0	0	0	0	A	125555397	G	A	125555397	3	1	290	1	0	0	0	0	1	0	0	0	10358	1348	47	4	177	4	NDUFB9	8	125555397	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	12201487	125555397	20808625	146	51382											
SLC45A4	57210	broad.mit.edu	37	chr8	142231850	142231850	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaccaggtgaggctgtagtActgctccggaaggcctgcaa	10	7	14	10	1	0	1	0	1	0	0	1	3	1	2	3	4	4	5	3	4	5	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:142231850A>G	ENST00000519067.1	-	2	406	c.103T>C	c.(103-105)Tac>Cac	p.Y35H	SLC45A4_ENST00000024061.3_Missense_Mutation_p.Y35H|SLC45A4_ENST00000517878.1_Missense_Mutation_p.Y86H|SLC45A4_ENST00000433583.2_Missense_Mutation_p.Y28H			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	86					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGGCTGTAGTACTGCTCCGGA	0.662													37	28					0	0	0	0	G	142231850	A	G	142231850	3	3	290	1	0	0	0	0	1	0	0	0	14731	391	14	5	2321	5	SLC45A4	8	142231850	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	16676453	142231850	4132172	147	51383											
RHPN1	114822	broad.mit.edu	37	chr8	144459586	144459586	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgatccccctgggcctGaaggagaccaaggagctgga	10	5	13	13	0	0	3	0	2	0	1	1	6	1	5	5	4	1	1	5	4	2	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:144459586G>T	ENST00000289013.6	+	4	443	c.342G>T	c.(340-342)ctG>ctT	p.L114L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	114	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CCCTGGGCCTGAAGGAGACCA	0.612													21	20					0.000295444	0.000567282	1	0	T	144459586	G	T	144459586	2	4	290	1	0	0	0	0	0	0	0	1	13433	1277	45	2		2	RHPN1	8	144459586	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	2227736	144459586	1904436	148	51384											
EPPK1	83481	broad.mit.edu	37	chr8	144940823	144940823	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgctccgtcccgtttccAggtcctggagcatttcctcc	3	13	9	16	3	0	0	0	0	0	0	7	1	6	1	6	2	2	3	6	2	0	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:144940823A>G	ENST00000525985.1	-	2	6670	c.6599T>C	c.(6598-6600)cTg>cCg	p.L2200P				P58107	EPIPL_HUMAN	epiplakin 1	2200						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCGTTTCCAGGTCCTGGAG	0.592													5	291					0	0	0	0	G	144940823	A	G	144940823	3	3	290	1	0	0	0	0	1	0	0	0	5228	188	7	5	667	5	EPPK1	8	144940823	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	481237	144940823	1423199	149	51385											
PRUNE2	158471	broad.mit.edu	37	chr9	79321004	79321004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggcgcggcagaggccagCtgcccaccctcttgaaagtt	8	7	12	14	2	2	2	1	1	1	1	2	2	2	2	3	3	2	3	3	3	1	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr9:79321004C>A	ENST00000428286.1	-	8	6309	c.5109G>T	c.(5107-5109)caG>caT	p.Q1703H	PRUNE2_ENST00000376718.3_Missense_Mutation_p.Q2062H			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2062					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGAGGCCAGCTGCCCACCCT	0.522													38	114					2.04263e-09	4.50225e-09	1	0	A	79321004	C	A	79321004	3	1	290	1	0	0	0	0	1	0	0	0	12720	796	28	4	3128	4	PRUNE2	9	79321004	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08		79321004	61892427	150	51386											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899643	112899643	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatccgagaccaccttctGtcgggggacctccagaagac	10	7	10	14	2	1	3	0	0	1	3	4	5	3	4	5	2	0	0	5	2	2	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr9:112899643G>C	ENST00000374530.3	+	8	1999	c.1819G>C	c.(1819-1821)Gtc>Ctc	p.V607L	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V607L|AKAP2_ENST00000555236.1_Missense_Mutation_p.V607L|AKAP2_ENST00000434623.2_Missense_Mutation_p.V465L|AKAP2_ENST00000510514.5_Missense_Mutation_p.V607L|AKAP2_ENST00000374525.1_Missense_Mutation_p.V465L|AKAP2_ENST00000259318.7_Missense_Mutation_p.V376L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		376							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ACCACCTTCTGTCGGGGGACC	0.607													64	57					0	0	0	0	C	112899643	G	C	112899643	3	2	290	1	0	0	0	0	1	0	0	0	11481	1377	48	4	1849	4	PALM2-AKAP2	9	112899643	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	33578639	112899643	28313788	151	51387											
USP6NL	9712	broad.mit.edu	37	chr10	11505159	11505159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggactagaacttggctcagCgtgctttctcgggctaggag	7	11	14	9	2	2	1	1	0	1	1	3	3	2	3	0	4	3	3	0	4	3	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:11505159C>T	ENST00000379237.1	-	15	2162	c.1768G>A	c.(1768-1770)Gct>Act	p.A590T	USP6NL_ENST00000277575.5_Missense_Mutation_p.A607T	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	590						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CTTGGCTCAGCGTGCTTTCTC	0.562													18	24					0	0	0	0	T	11505159	C	T	11505159	3	4	290	1	0	0	0	0	1	0	0	0	17183	768	27	1	722	1	USP6NL	10	11505159	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08		11505159	124029588	152	51388											
DCLRE1C	64421	broad.mit.edu	37	chr10	14976392	14976392	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatacctggactcctaatTcttcactaaggttggtgaac	11	12	7	11	0	2	1	1	1	1	0	3	2	3	2	3	3	2	1	3	3	4	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:14976392T>A	ENST00000453695.2	-	8	749	c.305A>T	c.(304-306)gAa>gTa	p.E102V	DCLRE1C_ENST00000378278.2_Missense_Mutation_p.E222V|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.E102V|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.E102V|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.E222V|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.E102V|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.E107V|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.E107V|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.E102V|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.E107V	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	222					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GACTCCTAATTCTTCACTAAG	0.438								Non-homologous end-joining					28	108					0	0	0	0	A	14976392	T	A	14976392	3	1	290	1	0	0	0	0	1	0	0	0	4328	1783	62	5	1441	5	DCLRE1C	10	14976392	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	3471233	14976392	120558355	153	51389											
GPR158	57512	broad.mit.edu	37	chr10	25887011	25887011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactcaagaaatcccacaGcacttatgaccacgtgagag	14	7	7	13	1	2	3	2	2	0	2	3	4	3	3	2	0	1	1	2	0	3	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:25887011G>T	ENST00000376351.3	+	11	2815	c.2456G>T	c.(2455-2457)aGc>aTc	p.S819I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	819						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAATCCCACAGCACTTATGAC	0.512													22	135					2.08468e-23	5.52699e-23	1	0	T	25887011	G	T	25887011	3	4	290	1	0	0	0	0	1	0	0	0	6712	971	34	4	2498	4	GPR158	10	25887011	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	10910619	25887011	109647736	154	51390											
APBB1IP	54518	broad.mit.edu	37	chr10	26802519	26802519	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtcttatcagactggaCaagagacacagaaaataaaa	20	7	8	6	0	2	4	1	1	1	3	2	6	2	5	0	1	0	0	0	1	7	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:26802519C>G	ENST00000376236.4	+	8	1198	c.743C>G	c.(742-744)aCa>aGa	p.T248R		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	248	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TCAGACTGGACAAGAGACACA	0.343													13	62					0	0	0	0	G	26802519	C	G	26802519	3	3	290	1	0	0	0	0	1	0	0	0	761	478	17	4	765	4	APBB1IP	10	26802519	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	915508	26802519	108732228	155	51391											
NCOA4	8031	broad.mit.edu	37	chr10	51585571	51585571	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttatcttctggagaagAcaagtggctgcttcgaaaga	12	10	11	8	1	2	3	0	0	2	3	3	5	2	3	1	2	1	3	1	2	4	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:51585571A>T	ENST00000452682.1	+	9	1970	c.1718A>T	c.(1717-1719)gAc>gTc	p.D573V	NCOA4_ENST00000344348.6_Missense_Mutation_p.D557V|NCOA4_ENST00000443446.1_Missense_Mutation_p.D557V|NCOA4_ENST00000414907.2_Missense_Mutation_p.D391V|NCOA4_ENST00000430396.2_Missense_Mutation_p.D457V|NCOA4_ENST00000438493.1_Missense_Mutation_p.D573V|NCOA4_ENST00000374087.4_Missense_Mutation_p.D557V|NCOA4_ENST00000374082.1_Intron	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	557					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCTGGAGAAGACAAGTGGCTG	0.433			T	RET	papillary thyroid								30	60					0	0	0	0	T	51585571	A	T	51585571	3	4	290	1	0	0	0	0	1	0	0	0	10301	275	10	5	1748	5	NCOA4	10	51585571	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	24783052	51585571	83949176	156	51392											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648688	62648688	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccatggaaggacactcTggaattttgatgaccggtgg	9	10	13	9	1	1	2	0	2	1	0	2	5	2	5	3	5	0	0	3	5	2	2	rs148015761		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:62648688T>A	ENST00000337910.5	-	6	1075	c.738A>T	c.(736-738)ccA>ccT	p.P246P	RHOBTB1_ENST00000357917.4_Silent_p.P246P	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	246					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AAGGACACTCTGGAATTTTGA	0.478													41	137					0	0	0	0	A	62648688	T	A	62648688	2	1	290	1	0	0	0	0	0	0	0	1	13416	1567	55	5		5	RHOBTB1	10	62648688	Silent	SNP	T	TCGA-CV-7242-01A-11D-2012-08	11063117	62648688	72886059	157	51393											
USP54	159195	broad.mit.edu	37	chr10	75276690	75276690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggaggcttagaatcagaaGgggaagagttcttccttaga	14	9	13	5	0	2	4	1	0	1	4	3	6	3	6	1	4	0	2	1	4	6	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:75276690G>A	ENST00000339859.4	-	19	3594	c.3494C>T	c.(3493-3495)cCt>cTt	p.P1165L	USP54_ENST00000428547.1_Missense_Mutation_p.P1015L|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.P347L|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.P1165L|USP54_ENST00000394811.2_Missense_Mutation_p.P253L			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1165					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGAATCAGAAGGGGAAGAGTT	0.507													49	115					0	0	0	0	A	75276690	G	A	75276690	3	1	290	1	0	0	0	0	1	0	0	0	17181	1000	35	4	1580	4	USP54	10	75276690	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	12628002	75276690	60258057	158	51394											
KCNMA1	3778	broad.mit.edu	37	chr10	79163662	79163662	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcggatatcatcaccccCgcccagtccttcacggaggt	7	8	11	15	3	3	0	3	0	0	0	4	2	4	2	4	4	0	0	4	4	1	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:79163662C>A	ENST00000286627.5	-	2	1450	c.498G>T	c.(496-498)gcG>gcT	p.A166A	KCNMA1_ENST00000372443.1_Silent_p.A166A|KCNMA1_ENST00000286628.8_Silent_p.A166A|KCNMA1_ENST00000404857.1_Silent_p.A166A|KCNMA1_ENST00000354353.5_Silent_p.A166A|KCNMA1_ENST00000372440.1_Silent_p.A166A|KCNMA1_ENST00000404771.3_Silent_p.A166A|KCNMA1_ENST00000406533.3_Silent_p.A166A	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	166					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCATCACCCCCGCCCAGTCCT	0.607													7	27					0.00198382	0.00373218	1	0	A	79163662	C	A	79163662	2	1	290	1	0	0	0	0	0	0	0	1	8126	639	23	3		3	KCNMA1	10	79163662	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	3886972	79163662	56371085	159	51395											
PKD2L1	9033	broad.mit.edu	37	chr10	102089669	102089669	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcagcagctggacacctgGgtcctgtatgccgtctcctg	6	9	13	13	1	1	0	0	0	1	0	3	1	2	1	4	3	3	4	4	3	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:102089669G>T	ENST00000318222.3	-	1	574	c.192C>A	c.(190-192)acC>acA	p.T64T	PKD2L1_ENST00000353274.3_Silent_p.T64T|PKD2L1_ENST00000338519.3_Silent_p.T64T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	64					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGGACACCTGGGTCCTGTATG	0.567													9	60					7.48243e-07	1.55276e-06	1	0	T	102089669	G	T	102089669	2	4	290	1	0	0	0	0	0	0	0	1	12039	1219	43	4		4	PKD2L1	10	102089669	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	22926007	102089669	33445078	160	51396											
PSD	5662	broad.mit.edu	37	chr10	104173584	104173584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagtggcagggactaggggGctccctccctggggccagct	5	7	17	12	0	0	1	0	1	0	0	2	2	2	2	3	6	1	3	3	6	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:104173584G>T	ENST00000020673.5	-	5	2021	c.1495C>A	c.(1495-1497)Ccc>Acc	p.P499T	PSD_ENST00000406432.1_Missense_Mutation_p.P499T	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	499					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGACTAGGGGGCTCCCTCCCT	0.632													9	33					1.33987e-11	3.10001e-11	1	0	T	104173584	G	T	104173584	3	4	290	1	0	0	0	0	1	0	0	0	12725	1203	42	4	1631	4	PSD	10	104173584	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	2083915	104173584	31361163	161	51397											
SMC3	9126	broad.mit.edu	37	chr10	112328765	112328765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagttcaaaacataatGtgattggtaagtgttcttgg	11	15	9	6	0	3	1	2	1	1	0	3	1	3	1	1	2	1	3	1	2	4	7			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:112328765G>A	ENST00000361804.4	+	2	211	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	29					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAAACATAATGTGATTGGTAA	0.328													32	28					0	0	0	0	A	112328765	G	A	112328765	3	1	290	1	0	0	0	0	1	0	0	0	14872	1377	48	4	91	4	SMC3	10	112328765	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	8155181	112328765	23205982	162	51398											
WDR11	55717	broad.mit.edu	37	chr10	122624702	122624702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtgattgcaatagaacGcacaggagttccatttttac	11	12	11	7	1	0	2	0	1	0	1	1	3	1	3	1	2	3	3	1	2	4	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:122624702G>T	ENST00000263461.6	+	6	1103	c.857G>T	c.(856-858)cGc>cTc	p.R286L		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	286						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCAATAGAACGCACAGGAGTT	0.358													20	47					2.4624e-09	5.41146e-09	1	0	T	122624702	G	T	122624702	3	4	290	1	0	0	0	0	1	0	0	0	17369	1087	38	3	879	3	WDR11	10	122624702	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	10295937	122624702	12910045	163	51399											
DMBT1	1755	broad.mit.edu	37	chr10	124339338	124339338	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctcaggacatgagtcCtacctgtggagctgccccca	7	8	11	15	1	1	1	1	1	0	0	2	3	2	3	4	2	4	3	4	2	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:124339338C>T	ENST00000338354.3	+	10	1030	c.924C>T	c.(922-924)tcC>tcT	p.S308S	DMBT1_ENST00000330163.4_Silent_p.S308S|DMBT1_ENST00000368955.3_Silent_p.S308S|DMBT1_ENST00000344338.3_Silent_p.S308S|DMBT1_ENST00000368909.3_Silent_p.S308S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Silent_p.S308S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	308	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACATGAGTCCTACCTGTGGA	0.597													59	131					0	0	0	0	T	124339338	C	T	124339338	2	4	290	1	0	0	0	0	0	0	0	1	4614	668	24	4		4	DMBT1	10	124339338	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	1714636	124339338	11195409	164	51400											
DMBT1	1755	broad.mit.edu	37	chr10	124358568	124358568	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccacaatggctggctcTcccacaactgtggccatagt	8	8	9	16	0	1	0	0	0	1	0	2	0	1	0	4	3	1	2	4	3	3	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:124358568T>A	ENST00000338354.3	+	26	3341	c.3235T>A	c.(3235-3237)Tcc>Acc	p.S1079T	DMBT1_ENST00000330163.4_Missense_Mutation_p.S580T|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1069T|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1069T|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1079T|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.S580T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1079	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCTGGCTCTCCCACAACTG	0.572													7	180					0	0	0	0	A	124358568	T	A	124358568	3	1	290	1	0	0	0	0	1	0	0	0	4614	1551	54	5	3337	5	DMBT1	10	124358568	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	19230	124358568	11176179	165	51401											
OR51G2	81282	broad.mit.edu	37	chr11	4935987	4935987	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcactcgatcccggatctGtttggtcttcacactgtaga	7	13	9	12	3	4	1	2	0	2	1	6	3	5	2	1	2	0	2	1	2	1	3	rs150667862	by1000genomes	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:4935987G>A	ENST00000322013.3	-	1	935	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCGGATCTGTTTGGTCTTC	0.478													12	19					0	0	0	0	A	4935987	G	A	4935987	4	1	290	1	0	0	0	0	0	1	0	0	11170	1386	48	4	41	4	OR51G2	11	4935987	Nonsense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08		4935987	130070529	166	51402											
OR52D1	390066	broad.mit.edu	37	chr11	5510098	5510098	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcctggtcattgccatGgacaatgctcttcatgcacc	8	12	7	14	0	4	0	3	0	1	0	5	1	5	1	3	2	3	2	3	2	1	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:5510098G>C	ENST00000322641.5	+	1	184	c.162G>C	c.(160-162)atG>atC	p.M54I	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTGCCATGGACAATGCTC	0.527													31	99					0	0	0	0	C	5510098	G	C	5510098	3	2	290	1	0	0	0	0	1	0	0	0	11185	1348	47	4	164	4	OR52D1	11	5510098	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	574111	5510098	129496418	167	51403											
UBQLN3	50613	broad.mit.edu	37	chr11	5530436	5530436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaatggagcttggctgaGggagtgatccaggacttggg	9	9	18	5	0	0	2	0	2	0	0	1	5	1	5	1	6	1	3	1	6	2	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:5530436G>T	ENST00000311659.4	-	2	500	c.353C>A	c.(352-354)cCt>cAt	p.P118H	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	118										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTGGCTGAGGGAGTGATCC	0.607													14	36					4.3838e-07	9.17397e-07	1	0	T	5530436	G	T	5530436	3	4	290	1	0	0	0	0	1	0	0	0	16994	1000	35	4	1618	4	UBQLN3	11	5530436	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	20338	5530436	129476080	168	51404											
OR56A3	390083	broad.mit.edu	37	chr11	5968729	5968729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacaccaccctcctgatGaccatctggctggaggcctc	8	7	9	17	0	1	2	0	2	1	0	3	3	2	3	6	3	1	1	6	3	1	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:5968729G>T	ENST00000329564.6	+	1	160	c.153G>T	c.(151-153)atG>atT	p.M51I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	51			M -> T (in dbSNP:rs1840178).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTCCTGATGACCATCTGGC	0.607													26	105					1.5548e-18	3.95333e-18	1	0	T	5968729	G	T	5968729	3	4	290	1	0	0	0	0	1	0	0	0	11205	1290	45	2	155	2	OR56A3	11	5968729	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	438293	5968729	129037787	169	51405											
OR56A1	120796	broad.mit.edu	37	chr11	6048387	6048387	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaagttggcacagatgcagTtctcaatgacattttcccca	12	11	7	11	0	1	2	1	1	1	1	3	2	2	2	2	1	1	4	2	1	2	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:6048387T>A	ENST00000316650.5	-	1	584	c.548A>T	c.(547-549)aAc>aTc	p.N183I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGATGCAGTTCTCAATGAC	0.478													37	77					0	0	0	0	A	6048387	T	A	6048387	3	1	290	1	0	0	0	0	1	0	0	0	11204	1725	60	5	412	5	OR56A1	11	6048387	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	79658	6048387	128958129	170	51406											
TRIM3	10612	broad.mit.edu	37	chr11	6477901	6477901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctgtgcgcaccaaccgcCcgtccttgtctttggtagtg	4	12	11	14	3	1	0	0	0	1	0	2	0	2	0	5	1	3	2	5	1	2	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:6477901C>G	ENST00000525074.1	-	6	1449	c.1055G>C	c.(1054-1056)gGg>gCg	p.G352A	TRIM3_ENST00000359518.3_Missense_Mutation_p.G352A|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Missense_Mutation_p.G352A|TRIM3_ENST00000537602.1_Missense_Mutation_p.G274A|TRIM3_ENST00000536344.1_Missense_Mutation_p.G233A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	352					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCAACCGCCCGTCCTTGTC	0.672													18	57					0	0	0	0	G	6477901	C	G	6477901	3	3	290	1	0	0	0	0	1	0	0	0	16599	623	22	4	1207	4	TRIM3	11	6477901	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	429514	6477901	128528615	171	51407											
OR10A5	144124	broad.mit.edu	37	chr11	6867169	6867169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaaaatgctggggaccCtgcttgcccaggacacaacc	10	6	10	15	0	0	0	0	0	0	0	0	2	0	2	4	3	5	2	4	3	3	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:6867169C>A	ENST00000299454.4	+	1	287	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	OR10A5_ENST00000379831.2_Missense_Mutation_p.L90M			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTGGGGACCCTGCTTGCCCA	0.498													25	128					4.87955e-14	1.16143e-13	1	0	A	6867169	C	A	6867169	3	1	290	1	0	0	0	0	1	0	0	0	10964	680	24	4	258	4	OR10A5	11	6867169	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	389268	6867169	128139347	172	51408											
OR10A3	26496	broad.mit.edu	37	chr11	7960256	7960256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagccaatgagatcagtttcTtggtttcgggtgagtagcca	10	12	12	7	1	2	2	1	2	1	1	3	3	2	2	2	2	2	3	2	2	3	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:7960256T>C	ENST00000360759.3	-	1	885	c.812A>G	c.(811-813)aAg>aGg	p.K271R		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATCAGTTTCTTGGTTTCGGG	0.443													11	56					0	0	0	0	C	7960256	T	C	7960256	3	2	290	1	0	0	0	0	1	0	0	0	10962	1609	56	5	135	5	OR10A3	11	7960256	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	1093087	7960256	127046260	173	51409											
FSHB	2488	broad.mit.edu	37	chr11	30253578	30253578	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcataagcatcaacacCacttggtgtgctggctactg	9	12	9	11	0	2	0	1	0	1	0	2	0	2	0	1	2	5	4	1	2	3	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:30253578C>T	ENST00000417547.1	+	2	168	c.129C>T	c.(127-129)acC>acT	p.T43T	FSHB_ENST00000533718.1_Silent_p.T43T|FSHB_ENST00000254122.3_Silent_p.T43T	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	43					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GCATCAACACCACTTGGTGTG	0.458													15	51					0	0	0	0	T	30253578	C	T	30253578	2	4	290	1	0	0	0	0	0	0	0	1	6120	581	21	4		4	FSHB	11	30253578	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	22293322	30253578	104752938	174	51410											
DCDC1	341019	broad.mit.edu	37	chr11	31086673	31086673	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcatttagctcctctaGgtaggtcagaacaaactgag	11	12	10	8	0	2	2	1	1	1	1	3	2	3	2	1	2	4	3	1	2	5	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:31086673G>C	ENST00000597505.1	-	17	2325	c.2326C>G	c.(2326-2328)Cta>Gta	p.L776V	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGCTCCTCTAGGTAGGTCAGA	0.423													7	30					0	0	0	0	C	31086673	G	C	31086673	3	2	290	1	0	0	0	0	1	0	0	0	4316	1015	35	4		4	DCDC1	11	31086673	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	833095	31086673	103919843	175	51411											
LRRC4C	57689	broad.mit.edu	37	chr11	40136707	40136707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatacagatgtcagggatGtggaggcccgacatttcagc	12	8	13	8	1	2	2	2	0	0	2	2	5	2	4	1	3	2	0	1	3	2	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:40136707G>T	ENST00000278198.2	-	2	3099	c.1136C>A	c.(1135-1137)aCa>aAa	p.T379K	LRRC4C_ENST00000528697.1_Missense_Mutation_p.T379K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.T379K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T379K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	379	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTCAGGGATGTGGAGGCCCG	0.498													21	80					2.70639e-06	5.4939e-06	1	0	T	40136707	G	T	40136707	3	4	290	1	0	0	0	0	1	0	0	0	9072	1377	48	4	790	4	LRRC4C	11	40136707	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	9050034	40136707	94869809	176	51412											
OR9G1	390174	broad.mit.edu	37	chr11	56468409	56468409	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctgtgatttgcttccCttggtggagctggcctgtgg	2	18	13	8	0	1	1	0	1	1	0	2	2	2	2	2	4	2	2	2	4	0	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:56468409C>T	ENST00000312153.1	+	1	546	c.546C>T	c.(544-546)ccC>ccT	p.P182P		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ATTTGCTTCCCTTGGTGGAGC	0.468													28	105					0	0	0	0	T	56468409	C	T	56468409	2	4	290	1	0	0	0	0	0	0	0	1	11321	668	24	4		4	OR9G1	11	56468409	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	16331702	56468409	78538107	177	51413											
AHNAK	79026	broad.mit.edu	37	chr11	62284353	62284353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactcccctgtaacttgcCtgtctcatcatcgctcccag	6	11	5	19	1	2	0	2	0	1	0	6	0	4	0	5	0	2	2	5	0	1	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:62284353C>A	ENST00000378024.4	-	5	17810	c.17536G>T	c.(17536-17538)Ggc>Tgc	p.G5846C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5846					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTAACTTGCCTGTCTCATCA	0.512													32	106					3.90053e-15	9.49638e-15	1	0	A	62284353	C	A	62284353	3	1	290	1	0	0	0	0	1	0	0	0	414	681	24	4	256	4	AHNAK	11	62284353	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	5815944	62284353	72722163	178	51414											
DPF2	5977	broad.mit.edu	37	chr11	65113793	65113793	+	Frame_Shift_Del	DEL	G	G	-																															ccgctggcagtgcatcgagtGcaaatgttgcaatatctgcg																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:65113793delG	ENST00000528416.1	+	9	1113	c.980delG	c.(979-981)tcfs	p.C327fs	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Frame_Shift_Del_p.C341fs	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	327					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGCATCGAGTGCAAATGTTGC	0.552													12	40	---	---	---	---					-	65113793	G	-	65113793	7	5	290	1	0	1	0	1	0	0	0	0	4753	1319	46	0	1014	0	DPF2	11	65113793	Frame_Shift_Del	DEL	G	TCGA-CV-7242-01A-11D-2012-08	2829440	65113793	69892723	179	51415											
CDK2AP2	10263	broad.mit.edu	37	chr11	67275066	67275066	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttggccccactcacctgCacgtagcccatggaaggcgg	7	7	12	15	2	1	0	1	0	0	0	1	1	1	1	4	4	2	3	4	4	2	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:67275066C>A	ENST00000301488.3	-	2	725	c.177G>T	c.(175-177)gtG>gtT	p.V59V	CDK2AP2_ENST00000531506.1_Silent_p.V59V	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	59										lung(1)	1						CACTCACCTGCACGTAGCCCA	0.627													9	39					5.4927e-09	1.18268e-08	1	0	A	67275066	C	A	67275066	2	1	290	1	0	0	0	0	0	0	0	1	3168	697	25	4		4	CDK2AP2	11	67275066	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	2161273	67275066	67731450	180	51416											
FOLH1B	219595	broad.mit.edu	37	chr11	89392880	89392880	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaccctctcacaccaggtTacccagcaaatggtgagtga	12	7	10	12	0	1	3	1	2	1	1	2	4	1	3	3	2	2	2	3	2	2	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:89392880T>A	ENST00000532352.1	+	0	703							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CACACCAGGTTACCCAGCAAA	0.433													10	42					0	0	0	0	A	89392880	T	A	89392880	1	1	290	0	1	0	0	0	0	0	0	0	6025	1769	61	5		5	FOLH1B	11	89392880	RNA	SNP	T	TCGA-CV-7242-01A-11D-2012-08	22117814	89392880	45613636	181	51417											
NAALAD2	10003	broad.mit.edu	37	chr11	89902135	89902135	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggagagaagcattgcttaTatcaactcggattcatctat	13	12	8	8	1	3	1	2	0	1	1	4	4	3	3	0	2	3	2	0	2	5	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:89902135T>A	ENST00000534061.1	+	12	1547	c.1317T>A	c.(1315-1317)taT>taA	p.Y439*	NAALAD2_ENST00000321955.4_Nonsense_Mutation_p.Y406*|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	439	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCATTGCTTATATCAACTCGG	0.284													16	34					0	0	0	0	A	89902135	T	A	89902135	4	1	290	1	0	0	0	0	0	1	0	0	10198	1413	49	5	1363	5	NAALAD2	11	89902135	Nonsense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	509255	89902135	45104381	182	51418											
EXPH5	23086	broad.mit.edu	37	chr11	108383615	108383615	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagatctaaagaatcacaCgaggtcttgtggccaggagt	13	8	12	8	1	3	2	1	0	2	2	3	5	3	3	1	3	0	0	1	3	3	2	rs114840330	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:108383615C>A	ENST00000265843.4	-	6	2729	c.2619G>T	c.(2617-2619)tcG>tcT	p.S873S	EXPH5_ENST00000443411.1_Silent_p.S685S|EXPH5_ENST00000428840.1_Silent_p.S797S|EXPH5_ENST00000525344.1_Silent_p.S866S	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	873					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGAATCACACGAGGTCTTGT	0.413													34	96					1.36161e-19	3.48592e-19	1	0	A	108383615	C	A	108383615	2	1	290	1	0	0	0	0	0	0	0	1	5360	523	19	3		3	EXPH5	11	108383615	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	18481480	108383615	26622901	183	51419											
ZW10	9183	broad.mit.edu	37	chr11	113630936	113630936	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaggtcagcagcaccttttGatggtgggaacttccataca	10	11	11	9	0	1	2	1	2	0	0	2	3	2	3	2	3	4	2	2	3	2	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:113630936G>C	ENST00000200135.3	-	5	719	c.575C>G	c.(574-576)tCa>tGa	p.S192*		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	192	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AGCACCTTTTGATGGTGGGAA	0.423													15	35					0	0	0	0	C	113630936	G	C	113630936	4	2	290	1	0	0	0	0	0	1	0	0	18338	1294	45	2	1812	2	ZW10	11	113630936	Nonsense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	5247321	113630936	21375580	184	51420											
IL10RA	3587	broad.mit.edu	37	chr11	117869498	117869498	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagagacccaagacaccatCcacccgcttgatgaggaggc	12	4	10	15	1	0	4	0	2	0	2	1	6	1	5	5	2	0	1	5	2	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:117869498C>A	ENST00000227752.3	+	7	999	c.879C>A	c.(877-879)atC>atA	p.I293I	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Silent_p.I144I|IL10RA_ENST00000541785.1_Silent_p.I273I	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	293						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		AAGACACCATCCACCCGCTTG	0.577													13	45					0.00136819	0.00258707	1	0	A	117869498	C	A	117869498	2	1	290	1	0	0	0	0	0	0	0	1	7673	845	30	2		2	IL10RA	11	117869498	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	4238562	117869498	17137018	185	51421											
MPZL3	196264	broad.mit.edu	37	chr11	118122936	118122937	+	Splice_Site	DEL	CC	CC	-																															gtagccagccggagcactcaCcctggaagaacaggacgccc																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:118122936_118122937delCC	ENST00000278949.4	-	1	128_129	c.73_splice	c.e1+1	p.G25_splice	MPZL3_ENST00000527472.1_Splice_Site_p.25_splice|MPZL3_ENST00000525386.1_Splice_Site_p.25_splice			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	25					cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGAGCACTCACCCTGGAAGAAC	0.644													20	138	---	---	---	---					-	118122937	CC	-	118122936	8	5	290	1	0	1	0	1	0	0	1	0	9821	521	18	0	657	0	MPZL3	11	118122936	Splice_Site	DEL	CC	TCGA-CV-7242-01A-11D-2012-08	253438	118122936	16883580	186	51422											
FOXR1	283150	broad.mit.edu	37	chr11	118850289	118850289	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaggctctggtcccggccCcctctcaattacttccacct	5	10	9	17	1	2	0	1	0	2	0	5	1	4	1	5	4	1	1	5	4	2	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:118850289C>G	ENST00000317011.3	+	4	747	c.522C>G	c.(520-522)ccC>ccG	p.P174P		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	174					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GGTCCCGGCCCCCTCTCAATT	0.597													15	85					0	0	0	0	G	118850289	C	G	118850289	2	3	290	1	0	0	0	0	0	0	0	1	6078	610	22	4		4	FOXR1	11	118850289	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	727353	118850289	16156227	187	51423											
OR10G8	219869	broad.mit.edu	37	chr11	123901012	123901012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttccatcctgcggatccGcacctcagaggggaagcaca	9	7	11	14	2	1	1	1	0	0	1	4	3	4	3	4	3	2	3	4	3	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:123901012G>T	ENST00000431524.1	+	1	716	c.683G>T	c.(682-684)cGc>cTc	p.R228L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGCGGATCCGCACCTCAGAG	0.527													29	80					2.12542e-12	4.97935e-12	1	0	T	123901012	G	T	123901012	3	4	290	1	0	0	0	0	1	0	0	0	10974	1087	38	3	685	3	OR10G8	11	123901012	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	5050723	123901012	11105504	188	51424											
OR10G8	219869	broad.mit.edu	37	chr11	123901065	123901065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgcctcccactgtatcGtggtcctttgcttctttggc	2	16	9	14	1	1	0	0	0	1	0	4	0	3	0	4	2	2	2	4	2	1	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:123901065G>A	ENST00000431524.1	+	1	769	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCACTGTATCGTGGTCCTTTG	0.542													18	95					0	0	0	0	A	123901065	G	A	123901065	3	1	290	1	0	0	0	0	1	0	0	0	10974	1145	40	1	738	1	OR10G8	11	123901065	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	53	123901065	11105451	189	51425											
SPATA19	219938	broad.mit.edu	37	chr11	133714155	133714155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttacctccatcttatgaaCtggattcgtgttctctcctc	6	16	5	14	1	2	1	0	1	2	0	7	2	4	2	4	1	2	1	4	1	3	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:133714155C>G	ENST00000299140.3	-	4	399	c.345G>C	c.(343-345)caG>caC	p.Q115H	SPATA19_ENST00000532889.1_Missense_Mutation_p.Q115H	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	115					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		p.Q115H(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		ATCTTATGAACTGGATTCGTG	0.537													38	65					0	0	0	0	G	133714155	C	G	133714155	3	3	290	1	0	0	0	0	1	0	0	0	15094	564	20	4	170	4	SPATA19	11	133714155	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	9813090	133714155	1292361	190	51426											
GLB1L2	89944	broad.mit.edu	37	chr11	134240963	134240963	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaatgggggaaatggacAgtccttcgggtacattctct	10	11	12	8	1	2	0	1	0	1	0	5	2	3	2	1	4	1	1	1	4	3	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:134240963A>T	ENST00000535456.2	+	13	1465	c.1277A>T	c.(1276-1278)cAg>cTg	p.Q426L	GLB1L2_ENST00000389881.3_Missense_Mutation_p.Q426L|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.Q426L	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	426					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGAAATGGACAGTCCTTCGGG	0.537													26	105					0	0	0	0	T	134240963	A	T	134240963	3	4	290	1	0	0	0	0	1	0	0	0	6480	188	7	5	1327	5	GLB1L2	11	134240963	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	526808	134240963	765553	191	51427											
SLC6A12	6539	broad.mit.edu	37	chr12	309926	309926	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccaggtcatggatgcccGaggtgatgcccagaactcgt	9	7	13	12	2	1	2	1	1	0	1	2	4	1	3	3	3	4	0	3	3	1	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:309926G>T	ENST00000428720.1	-	7	1345	c.602C>A	c.(601-603)tCg>tAg	p.S201*	SLC6A12_ENST00000397296.2_Nonsense_Mutation_p.S201*|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Nonsense_Mutation_p.S201*|SLC6A12_ENST00000424061.2_Nonsense_Mutation_p.S201*|SLC6A12_ENST00000359674.4_Nonsense_Mutation_p.S201*	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	201					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATGGATGCCCGAGGTGATGCC	0.567													29	82					5.45727e-16	1.35072e-15	1	0	T	309926	G	T	309926	4	4	290	1	0	0	0	0	0	1	0	0	14763	1059	37	3	1282	3	SLC6A12	12	309926	Nonsense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08		309926	133541969	192	51428											
CLEC7A	64581	broad.mit.edu	37	chr12	10279171	10279171	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttaactatgcccttgccTgtggttttgacagctttggt	5	17	9	10	0	0	1	0	1	0	0	0	1	0	1	3	2	4	2	3	2	2	7			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:10279171T>A	ENST00000304084.8	-	3	493	c.340_splice	c.e3+1	p.T113_splice	CLEC7A_ENST00000298523.5_Intron|CLEC7A_ENST00000533022.1_Splice_Site_p.T113_splice|CLEC7A_ENST00000353231.5_Intron|CLEC7A_ENST00000396484.2_Intron	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	113					carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TGCCCTTGCCTGTGGTTTTGA	0.423													31	89					0	0	0	0	A	10279171	T	A	10279171	5	1	290	1	0	0	0	0	0	0	1	0	3551	1594	55	5	420	5	CLEC7A	12	10279171	Splice_Site	SNP	T	TCGA-CV-7242-01A-11D-2012-08	9969245	10279171	123572724	193	51429											
OLR1	4973	broad.mit.edu	37	chr12	10319426	10319426	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagggtttctatcatttcCttgagttcgttttctgactc	6	18	8	9	1	3	2	1	2	2	0	6	2	4	2	1	1	0	4	1	1	2	7	rs146929021		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:10319426C>T	ENST00000309539.3	-	3	369	c.309G>A	c.(307-309)aaG>aaA	p.K103K	OLR1_ENST00000544577.1_Silent_p.K103K|OLR1_ENST00000545927.1_Silent_p.K103K|OLR1_ENST00000432556.2_Silent_p.K103K|OLR1_ENST00000543993.1_5'UTR	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	103	Neck.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTATCATTTCCTTGAGTTCGT	0.448													36	132					0	0	0	0	T	10319426	C	T	10319426	2	4	290	1	0	0	0	0	0	0	0	1	10934	680	24	4		4	OLR1	12	10319426	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	40255	10319426	123532469	194	51430											
SLCO1A2	6579	broad.mit.edu	37	chr12	21457428	21457428	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatacccaaaggcaggatGggagtttcacccattccacg	13	7	10	11	1	1	0	1	0	0	0	2	3	2	2	3	3	1	2	3	3	3	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:21457428G>T	ENST00000307378.6	-	7	1242	c.522C>A	c.(520-522)ccC>ccA	p.P174P	SLCO1A2_ENST00000452078.1_Silent_p.P174P|SLCO1A2_ENST00000458504.1_Silent_p.P42P|SLCO1A2_ENST00000390670.3_Silent_p.P172P|SLCO1A2_ENST00000537524.1_Silent_p.P42P	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	174					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						AAGGCAGGATGGGAGTTTCAC	0.343													20	36					2.39187e-15	5.86166e-15	1	0	T	21457428	G	T	21457428	2	4	290	1	0	0	0	0	0	0	0	1	14810	1335	47	4		4	SLCO1A2	12	21457428	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	11138002	21457428	112394467	195	51431											
LRRK2	120892	broad.mit.edu	37	chr12	40714839	40714839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttttgcctttagtttGtctgaccacaggcctgtgat	5	17	9	10	0	1	2	0	2	1	0	2	2	2	2	4	1	1	1	4	1	1	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:40714839G>T	ENST00000298910.7	+	35	5077	c.5019G>T	c.(5017-5019)ttG>ttT	p.L1673F		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1673					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCTTTAGTTTGTCTGACCACA	0.388													27	118					1.75199e-13	4.14358e-13	1	0	T	40714839	G	T	40714839	3	4	290	1	0	0	0	0	1	0	0	0	9097	1368	48	4	5157	4	LRRK2	12	40714839	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	19257411	40714839	93137056	196	51432											
LRRK2	120892	broad.mit.edu	37	chr12	40728910	40728910	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggacaaagccagcctcActagaaccctacagcacagg	15	3	9	14	0	1	1	1	0	0	1	1	2	1	2	3	2	6	2	3	2	4	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:40728910A>T	ENST00000298910.7	+	40	5957	c.5899A>T	c.(5899-5901)Act>Tct	p.T1967S		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1967	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCCAGCCTCACTAGAACCCT	0.507													24	58					0	0	0	0	T	40728910	A	T	40728910	3	4	290	1	0	0	0	0	1	0	0	0	9097	159	6	5	6057	5	LRRK2	12	40728910	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	14071	40728910	93122985	197	51433											
DBX2	440097	broad.mit.edu	37	chr12	45429852	45429852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggacccaccgcagcacGccgagtagaatggcggggtg	10	3	16	12	4	0	1	0	0	0	1	0	4	0	2	3	4	1	3	3	4	2	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:45429852G>T	ENST00000332700.6	-	2	620	c.449C>A	c.(448-450)gCg>gAg	p.A150E		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		accgcagcacgccgagtagaa	0.463													5	27					2.0095e-06	4.10158e-06	1	0	T	45429852	G	T	45429852	3	4	290	1	0	0	0	0	1	0	0	0	4293	1087	38	3	582	3	DBX2	12	45429852	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	4700942	45429852	88422043	198	51434											
SCN8A	6334	broad.mit.edu	37	chr12	52115638	52115638	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggtggactgcaacggcgtGgtgtccctcatcggcggccc	5	7	15	14	5	1	0	1	0	0	0	3	1	2	1	2	6	2	1	2	6	1	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:52115638G>T	ENST00000354534.5	+	12	2122	c.1944G>T	c.(1942-1944)gtG>gtT	p.V648V	SCN8A_ENST00000550891.1_Silent_p.V648V|SCN8A_ENST00000545061.1_Silent_p.V648V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	648					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCAACGGCGTGGTGTCCCTCA	0.647													18	69					4.35082e-09	9.47766e-09	1	0	T	52115638	G	T	52115638	2	4	290	1	0	0	0	0	0	0	0	1	14011	1335	47	4		4	SCN8A	12	52115638	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	6685786	52115638	81736257	199	51435											
CALCOCO1	57658	broad.mit.edu	37	chr12	54115880	54115880	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcgagctcctgcactcGgctcctcagctctgtcacct	4	11	7	19	2	4	0	2	0	2	0	8	1	6	0	4	1	3	4	4	1	0	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:54115880G>A	ENST00000548263.1	-	5	586	c.538C>T	c.(538-540)Cga>Tga	p.R180*	CALCOCO1_ENST00000430117.2_Nonsense_Mutation_p.R147*|CALCOCO1_ENST00000262059.4_Nonsense_Mutation_p.R180*|CALCOCO1_ENST00000550804.1_Nonsense_Mutation_p.R180*			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	180	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TCCTGCACTCGGCTCCTCAGC	0.607													32	81					0	0	0	0	A	54115880	G	A	54115880	4	1	290	1	0	0	0	0	0	1	0	0	2602	1124	39	1	1581	1	CALCOCO1	12	54115880	Nonsense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	2000242	54115880	79736015	200	51436											
OR10A7	121364	broad.mit.edu	37	chr12	55615418	55615418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagcacttgcctccacaCtcctgtttatcatgtttccc	7	14	5	15	0	1	0	1	0	0	0	4	0	4	0	4	0	3	4	4	0	2	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:55615418C>T	ENST00000326258.1	+	1	610	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TGCCTCCACACTCCTGTTTAT	0.463													25	63					0	0	0	0	T	55615418	C	T	55615418	3	4	290	1	0	0	0	0	1	0	0	0	10966	565	20	4	612	4	OR10A7	12	55615418	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	1499538	55615418	78236477	201	51437											
SLC16A7	9194	broad.mit.edu	37	chr12	60169129	60169129	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattttttggccttggattTgggagtgttagcagtgttct	5	19	13	4	0	1	0	0	0	1	0	1	2	1	2	1	3	1	4	1	3	2	8			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:60169129T>C	ENST00000261187.4	+	4	1217	c.1053T>C	c.(1051-1053)ttT>ttC	p.F351F	SLC16A7_ENST00000547379.1_Silent_p.F351F|SLC16A7_ENST00000552432.1_Silent_p.F351F|SLC16A7_ENST00000543448.1_Silent_p.F252F|SLC16A7_ENST00000552024.1_Silent_p.F351F	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	351						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GCCTTGGATTTGGGAGTGTTA	0.478													4	169					0	0	0	0	C	60169129	T	C	60169129	2	2	290	1	0	0	0	0	0	0	0	1	14501	1809	63	5		5	SLC16A7	12	60169129	Silent	SNP	T	TCGA-CV-7242-01A-11D-2012-08	4553711	60169129	73682766	202	51438											
RASSF3	283349	broad.mit.edu	37	chr12	65085357	65085357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgtgaacatgaaattggaGaggtaagttattgttcacta	13	14	10	4	1	1	3	1	2	0	1	2	4	1	3	0	2	1	3	0	2	5	7			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:65085357G>A	ENST00000542104.1	+	4	685	c.565G>A	c.(565-567)Gag>Aag	p.E189K	RASSF3_ENST00000336061.2_Missense_Mutation_p.E189K	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	189	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		TGAAATTGGAGAGGTAAGTTA	0.453													6	23					0	0	0	0	A	65085357	G	A	65085357	3	1	290	1	0	0	0	0	1	0	0	0	13169	943	33	2	579	2	RASSF3	12	65085357	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	4916228	65085357	68766538	203	51439											
NAV3	89795	broad.mit.edu	37	chr12	78400711	78400711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataaaaagtctttgctacagCcaaaggaaaaagaagaaaag	22	6	8	5	0	1	2	0	0	1	2	1	3	1	3	1	1	3	1	1	1	10	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:78400711C>A	ENST00000397909.2	+	8	1566	c.1393C>A	c.(1393-1395)Cca>Aca	p.P465T	NAV3_ENST00000228327.6_Missense_Mutation_p.P465T|NAV3_ENST00000266692.7_Missense_Mutation_p.P465T|NAV3_ENST00000536525.2_Missense_Mutation_p.P465T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	465						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTTGCTACAGCCAAAGGAAAA	0.408										HNSCC(70;0.22)			12	56					2.80697e-09	6.15058e-09	1	0	A	78400711	C	A	78400711	3	1	290	1	0	0	0	0	1	0	0	0	10255	739	26	4	1423	4	NAV3	12	78400711	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	13315354	78400711	55451184	204	51440											
CEP290	80184	broad.mit.edu	37	chr12	88487640	88487640	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attttttgacaatgttcagcCcgctgcctttcatttaattc	8	18	5	10	1	2	1	2	1	0	0	3	1	2	1	2	0	2	2	2	0	2	8			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:88487640C>A	ENST00000552810.1	-	28	3559	c.3216G>T	c.(3214-3216)cgG>cgT	p.R1072R	CEP290_ENST00000547691.2_Silent_p.R132R|CEP290_ENST00000309041.7_Silent_p.R1074R|CEP290_ENST00000397838.3_Silent_p.R132R	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1072					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AATGTTCAGCCCGCTGCCTTT	0.348													14	28					4.3838e-07	9.17397e-07	1	0	A	88487640	C	A	88487640	2	1	290	1	0	0	0	0	0	0	0	1	3282	610	22	4		4	CEP290	12	88487640	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	10086929	88487640	45364255	205	51441											
ANKS1B	56899	broad.mit.edu	37	chr12	99793503	99793503	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtaaagcttgtgcacccTgtagatgtgttgatttcaaa	11	13	10	7	0	1	2	1	1	0	1	1	2	1	2	1	0	2	6	1	0	4	5	rs34594552		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:99793503T>A	ENST00000547776.2	-	12	1661	c.1662A>T	c.(1660-1662)acA>acT	p.T554T	ANKS1B_ENST00000547010.1_Silent_p.T134T|ANKS1B_ENST00000329257.7_Silent_p.T554T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	554						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTGTGCACCCTGTAGATGTGT	0.428													24	69					0	0	0	0	A	99793503	T	A	99793503	2	1	290	1	0	0	0	0	0	0	0	1	688	1567	55	5		5	ANKS1B	12	99793503	Silent	SNP	T	TCGA-CV-7242-01A-11D-2012-08	11305863	99793503	34058392	206	51442											
DEPDC4	120863	broad.mit.edu	37	chr12	100657483	100657483	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaacccctttaagacaagAgatgtcattgctacttaggc	13	11	8	9	0	1	3	1	1	0	2	1	4	1	3	2	1	3	1	2	1	5	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:100657483A>G	ENST00000416321.1	-	2	348	c.346T>C	c.(346-348)Tct>Cct	p.S116P		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	116	DEP.				intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TTAAGACAAGAGATGTCATTG	0.363													23	77					0	0	0	0	G	100657483	A	G	100657483	3	3	290	1	0	0	0	0	1	0	0	0	4478	304	11	5	554	5	DEPDC4	12	100657483	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	863980	100657483	33194412	207	51443											
ANO4	121601	broad.mit.edu	37	chr12	101442142	101442142	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacctttttgacaatggAgccactgtcttctttgctgt	7	15	7	12	0	2	1	0	1	2	0	2	2	2	2	3	1	2	1	3	1	1	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:101442142A>T	ENST00000392979.3	+	13	1531	c.1170A>T	c.(1168-1170)ggA>ggT	p.G390G	ANO4_ENST00000550015.1_5'UTR|ANO4_ENST00000392977.3_Silent_p.G425G|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	425						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTGACAATGGAGCCACTGTCT	0.348										HNSCC(74;0.22)			13	42					0	0	0	0	T	101442142	A	T	101442142	2	4	290	1	0	0	0	0	0	0	0	1	698	291	11	5		5	ANO4	12	101442142	Silent	SNP	A	TCGA-CV-7242-01A-11D-2012-08	784659	101442142	32409753	208	51444											
CCDC53	51019	broad.mit.edu	37	chr12	102433723	102433723	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttctgctgatacttcacTttcctgtagtccagagtctt	7	18	6	10	0	3	2	1	1	2	1	5	2	5	2	2	0	2	2	2	0	2	7			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:102433723T>C	ENST00000240079.6	-	5	519	c.358A>G	c.(358-360)Agt>Ggt	p.S120G	CCDC53_ENST00000545679.1_Missense_Mutation_p.S119G|CCDC53_ENST00000539515.1_5'UTR	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	120						WASH complex	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GATACTTCACTTTCCTGTAGT	0.373													37	130					0	0	0	0	C	102433723	T	C	102433723	3	2	290	1	0	0	0	0	1	0	0	0	2850	1609	56	5	169	5	CCDC53	12	102433723	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	991581	102433723	31418172	209	51445											
RASAL1	8437	broad.mit.edu	37	chr12	113541858	113541858	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggccttgcgcaaggccGagagccactggttgagctca	7	7	14	13	3	1	2	1	1	0	1	1	3	1	2	3	3	3	4	3	3	1	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:113541858G>T	ENST00000546530.1	-	19	2285	c.2000C>A	c.(1999-2001)tCg>tAg	p.S667*	RASAL1_ENST00000446861.3_Nonsense_Mutation_p.S637*|RASAL1_ENST00000261729.5_Nonsense_Mutation_p.S665*|RASAL1_ENST00000548055.1_Nonsense_Mutation_p.S666*|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	665	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCGCAAGGCCGAGAGCCACTG	0.711													3	15					6.4e-05	0.000126472	1	0	T	113541858	G	T	113541858	4	4	290	1	0	0	0	0	0	1	0	0	13145	1059	37	3	436	3	RASAL1	12	113541858	Nonsense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	11108135	113541858	20310037	210	51446											
WDR66	144406	broad.mit.edu	37	chr12	122396265	122396265	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttatttgtagagcccaaGgatgccatttgtgccatctc	10	13	9	9	0	1	1	0	0	1	1	2	2	1	2	3	1	3	2	3	1	4	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:122396265G>A	ENST00000288912.4	+	12	2672	c.1818G>A	c.(1816-1818)aaG>aaA	p.K606K	WDR66_ENST00000397454.2_Silent_p.K606K	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	606							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TAGAGCCCAAGGATGCCATTT	0.448													40	134					0	0	0	0	A	122396265	G	A	122396265	2	1	290	1	0	0	0	0	0	0	0	1	17413	991	35	4		4	WDR66	12	122396265	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	8854407	122396265	11455630	211	51447											
CHFR	55743	broad.mit.edu	37	chr12	133435715	133435715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcgtctcctccatcttgtCtggcttcccagccgctgctc	3	12	8	18	2	3	0	0	0	3	0	7	0	5	0	4	1	3	3	4	1	0	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:133435715C>T	ENST00000266880.7	-	8	949	c.886G>A	c.(886-888)Gac>Aac	p.D296N	CHFR_ENST00000315585.7_Missense_Mutation_p.D255N|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Missense_Mutation_p.D296N|CHFR_ENST00000450056.2_Missense_Mutation_p.D284N|CHFR_ENST00000443047.2_Missense_Mutation_p.D204N			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	296					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCCATCTTGTCTGGCTTCCCA	0.597													13	42					0	0	0	0	T	133435715	C	T	133435715	3	4	290	1	0	0	0	0	1	0	0	0	3366	913	32	2	1152	2	CHFR	12	133435715	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	11039450	133435715	416180	212	51448											
ZNF140	7699	broad.mit.edu	37	chr12	133682776	133682776	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccttatgaatgcattGaatgtgggaaggcatttcgc	13	11	11	6	1	0	3	0	2	0	1	1	4	0	4	1	2	2	2	1	2	5	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:133682776G>T	ENST00000355557.2	+	5	2196	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	ZNF140_ENST00000544426.1_Nonsense_Mutation_p.E202*|ZNF140_ENST00000440550.2_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGAATGCATTGAATGTGGGAA	0.408													20	48					2.94398e-08	6.28443e-08	1	0	T	133682776	G	T	133682776	4	4	290	1	0	0	0	0	0	1	0	0	17824	1291	45	2	927	2	ZNF140	12	133682776	Nonsense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	247061	133682776	169119	213	51449											
TNFRSF19	55504	broad.mit.edu	37	chr13	24200851	24200851	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctttctcttctagattttAtaggaagacgaaacttgtcg	10	16	7	8	2	2	2	0	0	2	2	5	4	3	3	1	1	1	0	1	1	5	7			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr13:24200851A>G	ENST00000382263.3	+	5	549	c.365A>G	c.(364-366)tAt>tGt	p.Y122C	TNFRSF19_ENST00000382258.4_Missense_Mutation_p.Y122C|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.Y122C|TNFRSF19_ENST00000403372.2_5'UTR	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	122					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TCTAGATTTTATAGGAAGACG	0.443													14	33					0	0	0	0	G	24200851	A	G	24200851	3	3	290	1	0	0	0	0	1	0	0	0	16386	449	16	5	379	5	TNFRSF19	13	24200851	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08		24200851	90969027	214	51450											
HSPH1	10808	broad.mit.edu	37	chr13	31711555	31711555	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttgtcttctaaatctTcttcctttttatcaatattt	7	25	2	7	0	5	0	1	0	4	0	6	0	6	0	1	0	0	1	1	0	5	11			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr13:31711555T>C	ENST00000320027.5	-	18	2821	c.2477A>G	c.(2476-2478)gAa>gGa	p.E826G	HSPH1_ENST00000380406.5_Missense_Mutation_p.E785G|HSPH1_ENST00000429785.2_Missense_Mutation_p.E645G|HSPH1_ENST00000380405.4_Missense_Mutation_p.E782G|HSPH1_ENST00000445273.2_Missense_Mutation_p.E828G	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	826					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTCTAAATCTTCTTCCTTTTT	0.363													19	47					0	0	0	0	C	31711555	T	C	31711555	3	2	290	1	0	0	0	0	1	0	0	0	7484	1783	62	5	103	5	HSPH1	13	31711555	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	7510704	31711555	83458323	215	51451											
CPB2	1361	broad.mit.edu	37	chr13	46661882	46661882	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattagggagaaattacctCatatgttgtagtaagattct	15	14	8	4	0	2	2	1	0	1	2	2	3	2	2	1	1	1	3	1	1	7	7			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr13:46661882C>A	ENST00000181383.4	-	2	164	c.148G>T	c.(148-150)Gag>Tag	p.E50*	CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.E50*|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	50					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GAAATTACCTCATATGTTGTA	0.378													28	37					2.61193e-14	6.27706e-14	1	0	A	46661882	C	A	46661882	4	1	290	1	0	0	0	0	0	1	0	0	3827	835	29	2	1163	2	CPB2	13	46661882	Nonsense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	14950327	46661882	68507996	216	51452											
TEP1	7011	broad.mit.edu	37	chr14	20874489	20874489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctccacctcctcctcctctCccaagctcagactataagaa	10	9	3	19	0	2	2	1	0	1	2	7	2	6	2	7	0	1	1	7	0	4	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:20874489C>T	ENST00000262715.5	-	3	678	c.638G>A	c.(637-639)gGa>gAa	p.G213E	TEP1_ENST00000556935.1_Missense_Mutation_p.G213E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	213					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTCCTCCTCTCCCAAGCTCAG	0.502													25	82					0	0	0	0	T	20874489	C	T	20874489	3	4	290	1	0	0	0	0	1	0	0	0	15853	855	30	2	7457	2	TEP1	14	20874489	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08		20874489	86475051	217	51453											
CPNE6	9362	broad.mit.edu	37	chr14	24543809	24543809	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaccaaagtgatcagctgGtctggagaactgaggttggt	11	9	15	6	0	2	3	1	2	1	1	2	5	2	4	1	5	2	2	1	5	2	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:24543809G>C	ENST00000397016.2	+	7	879	c.568G>C	c.(568-570)Gtc>Ctc	p.V190L	CPNE6_ENST00000537691.1_Missense_Mutation_p.V245L|CPNE6_ENST00000216775.2_Missense_Mutation_p.V190L			O95741	CPNE6_HUMAN	copine VI (neuronal)	190	C2 2.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TGATCAGCTGGTCTGGAGAAC	0.517													8	60					0	0	0	0	C	24543809	G	C	24543809	3	2	290	1	0	0	0	0	1	0	0	0	3846	1261	44	4	586	4	CPNE6	14	24543809	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	3669320	24543809	82805731	218	51454											
SNX6	58533	broad.mit.edu	37	chr14	35072621	35072621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataggatgtgctgccacaCgacacaggaacacttcatgc	14	7	9	11	1	1	0	1	0	0	0	1	3	1	2	1	2	4	1	1	2	3	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:35072621C>T	ENST00000396526.3	-	5	597	c.101G>A	c.(100-102)cGt>cAt	p.R34H	SNX6_ENST00000355110.5_Missense_Mutation_p.R38H|SNX6_ENST00000362031.4_Missense_Mutation_p.R162H|SNX6_ENST00000396534.3_Missense_Mutation_p.R34H			Q9UNH7	SNX6_HUMAN	sorting nexin 6	150	PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		TGCTGCCACACGACACAGGAA	0.343													5	21					0	0	0	0	T	35072621	C	T	35072621	3	4	290	1	0	0	0	0	1	0	0	0	14994	536	19	1	807	1	SNX6	14	35072621	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	10528812	35072621	72276919	219	51455											
SYT16	83851	broad.mit.edu	37	chr14	62547693	62547693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagggcacagggcctcccaGataaggaccgaagtggtgtc	10	6	15	10	1	0	2	0	1	0	1	2	4	1	3	3	4	0	1	3	4	2	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:62547693G>C	ENST00000430451.2	+	4	1332	c.1135G>C	c.(1135-1137)Gat>Cat	p.D379H	SYT16_ENST00000446982.2_3'UTR|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	379	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGGCCTCCCAGATAAGGACCG	0.537													5	18					0	0	0	0	C	62547693	G	C	62547693	3	2	290	1	0	0	0	0	1	0	0	0	15563	942	33	2	1149	2	SYT16	14	62547693	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	27475072	62547693	44801847	220	51456											
AHSA1	10598	broad.mit.edu	37	chr14	77929012	77929012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagccttgccaaagatgagCctgacacaaatctcgtggcc	11	8	10	12	1	1	4	0	3	1	1	2	4	1	4	4	1	3	0	4	1	2	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:77929012C>T	ENST00000216479.3	+	4	542	c.382C>T	c.(382-384)Cct>Tct	p.P128S	AHSA1_ENST00000555457.1_Intron|AHSA1_ENST00000535854.2_Missense_Mutation_p.P128S	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	128					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAAAGATGAGCCTGACACAAA	0.463													19	63					0	0	0	0	T	77929012	C	T	77929012	3	4	290	1	0	0	0	0	1	0	0	0	418	739	26	4	396	4	AHSA1	14	77929012	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	15381319	77929012	29420528	221	51457											
GALC	2581	broad.mit.edu	37	chr14	88401201	88401201	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagagacttgtcattcaGcatgccagaggtgaaatgac	13	8	10	10	0	2	4	2	2	0	2	2	5	2	4	2	1	2	1	2	1	1	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:88401201G>C	ENST00000261304.2	-	17	2039	c.1933C>G	c.(1933-1935)Ctg>Gtg	p.L645V	GALC_ENST00000393569.2_Missense_Mutation_p.L619V|GALC_ENST00000544807.2_Intron|GALC_ENST00000393568.4_Missense_Mutation_p.L622V	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	645			L -> R (in GLD; adult).		carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGTCATTCAGCATGCCAGAG	0.428													10	30					0	0	0	0	C	88401201	G	C	88401201	3	2	290	1	0	0	0	0	1	0	0	0	6250	962	34	4	128	4	GALC	14	88401201	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	10472189	88401201	18948339	222	51458											
TTC7B	145567	broad.mit.edu	37	chr14	91084371	91084371	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggcagagtgactgcaacttCactttggaaaacagtagtct	12	10	10	9	1	2	2	1	1	1	1	2	3	2	3	0	2	3	3	0	2	4	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:91084371C>T	ENST00000357056.2	-	16	1891	c.1770G>A	c.(1768-1770)gtG>gtA	p.V590V	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Silent_p.V590V			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	590							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACTGCAACTTCACTTTGGAAA	0.542													19	38					0	0	0	0	T	91084371	C	T	91084371	2	4	290	1	0	0	0	0	0	0	0	1	16809	813	29	2		2	TTC7B	14	91084371	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	2683170	91084371	16265169	223	51459											
RIN3	79890	broad.mit.edu	37	chr14	93125658	93125658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaccaccaccactgacCtaggtgtgaccaccagcgtg	9	6	10	16	1	0	2	0	2	0	0	0	2	0	2	7	2	1	0	7	2	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:93125658C>G	ENST00000216487.7	+	7	2338	c.2179C>G	c.(2179-2181)Cta>Gta	p.L727V	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	727	Interaction with RAB5B.|VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CACCACTGACCTAGGTGTGAC	0.552													33	102					0	0	0	0	G	93125658	C	G	93125658	3	3	290	1	0	0	0	0	1	0	0	0	13458	680	24	4	2205	4	RIN3	14	93125658	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	2041287	93125658	14223882	224	51460											
AHNAK2	113146	broad.mit.edu	37	chr14	105410214	105410214	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagcttggaccgtcaggtcGgcagaatggggctgaatgct	8	8	16	9	3	1	2	1	1	0	1	2	4	1	3	1	5	2	4	1	5	2	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:105410214G>A	ENST00000333244.5	-	7	11693	c.11574C>T	c.(11572-11574)gcC>gcT	p.A3858A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3858						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGTCAGGTCGGCAGAATGGG	0.632													60	193					0	0	0	0	A	105410214	G	A	105410214	2	1	290	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105410214	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	12284556	105410214	1939326	225	51461											
NIPA1	123606	broad.mit.edu	37	chr15	23049038	23049038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgacgtagtagatggcccCgaacaccgaggagtcgaagc	12	4	13	12	5	0	1	0	0	0	1	1	6	0	2	3	2	2	2	3	2	4	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:23049038C>A	ENST00000437912.2	-	5	1853	c.556G>T	c.(556-558)Ggg>Tgg	p.G186W	NIPA1_ENST00000538684.1_Missense_Mutation_p.G91W|NIPA1_ENST00000337435.4_Missense_Mutation_p.G261W|NIPA1_ENST00000561183.1_Missense_Mutation_p.G186W			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	261					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TAGATGGCCCCGAACACCGAG	0.607													12	21					0.00010058	0.000196157	1	0	A	23049038	C	A	23049038	3	1	290	1	0	0	0	0	1	0	0	0	10492	652	23	3	212	3	NIPA1	15	23049038	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08		23049038	79482354	226	51462											
MKRN3	7681	broad.mit.edu	37	chr15	23811310	23811310	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctggtcggaagatggcCactgagggtggcgtttcgcc	5	11	15	10	3	1	2	0	1	1	1	3	3	1	3	2	5	0	1	2	5	1	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:23811310C>G	ENST00000314520.3	+	1	857	c.381C>G	c.(379-381)gcC>gcG	p.A127A	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	127						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGAAGATGGCCACTGAGGGTG	0.607													23	34					0	0	0	0	G	23811310	C	G	23811310	2	3	290	1	0	0	0	0	0	0	0	1	9677	581	21	4		4	MKRN3	15	23811310	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	762272	23811310	78720082	227	51463											
GABRA5	2558	broad.mit.edu	37	chr15	27185148	27185148	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatccagacctaccttccCtgcataatgaccgtgatctt	9	12	6	14	1	2	3	1	2	1	1	4	3	4	3	5	0	2	1	5	0	2	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:27185148C>G	ENST00000335625.5	+	9	1689	c.801C>G	c.(799-801)ccC>ccG	p.P267P	GABRA5_ENST00000400081.3_Silent_p.P267P|GABRA5_ENST00000355395.5_Silent_p.P267P	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	267					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCTACCTTCCCTGCATAATGA	0.493													11	16					0	0	0	0	G	27185148	C	G	27185148	2	3	290	1	0	0	0	0	0	0	0	1	6212	668	24	4		4	GABRA5	15	27185148	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	3373838	27185148	75346244	228	51464											
MTMR10	54893	broad.mit.edu	37	chr15	31253125	31253125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgttaatagaacaaactctCcacccggaagcacctgtcct	12	9	6	14	2	1	1	0	0	1	1	4	2	2	2	4	1	3	2	4	1	5	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:31253125C>A	ENST00000435680.1	-	7	814	c.717G>T	c.(715-717)tgG>tgT	p.W239C	MTMR10_ENST00000563714.1_Missense_Mutation_p.W157C|MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000425768.1_Missense_Mutation_p.G209V	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	239	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		AACAAACTCTCCACCCGGAAG	0.433													7	15					1.12685e-05	2.25673e-05	1	0	A	31253125	C	A	31253125	3	1	290	1	0	0	0	0	1	0	0	0	10009	856	30	2	1656	2	MTMR10	15	31253125	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	4067977	31253125	71278267	229	51465											
CHRNA7	1139	broad.mit.edu	37	chr15	32460234	32460234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcctgccagcacaagcagCggcgctgcagcctggccagt	7	4	14	16	3	0	0	0	0	0	0	0	0	0	0	4	3	6	4	4	3	1	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:32460234C>T	ENST00000306901.3	+	10	1181	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	CHRNA7_ENST00000454250.3_Missense_Mutation_p.R391W|CHRNA7_ENST00000455693.2_Missense_Mutation_p.R181W	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	362					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GCACAAGCAGCGGCGCTGCAG	0.687													17	43					0	0	0	0	T	32460234	C	T	32460234	3	4	290	1	0	0	0	0	1	0	0	0	3417	759	27	1	1122	1	CHRNA7	15	32460234	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	1207109	32460234	70071158	230	51466											
LCMT2	9836	broad.mit.edu	37	chr15	43621835	43621835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatattttccacccgccGgcgttcttctgcgggaagaa	8	12	9	12	4	3	1	1	0	2	1	4	2	4	2	3	2	1	1	3	2	4	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:43621835G>A	ENST00000305641.5	-	1	968	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	LCMT2_ENST00000544735.1_5'UTR|LCMT2_ENST00000567039.1_Missense_Mutation_p.P34L	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	285					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TCCACCCGCCGGCGTTCTTCT	0.557													14	34					0	0	0	0	A	43621835	G	A	43621835	3	1	290	1	0	0	0	0	1	0	0	0	8732	1115	39	1	1211	1	LCMT2	15	43621835	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	11161601	43621835	58909557	231	51467											
CATSPER2	117155	broad.mit.edu	37	chr15	43928002	43928002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctcctcattcagctctttCctgatattctgaaagttagt	9	17	5	10	0	5	2	2	2	3	0	7	2	6	2	2	0	1	2	2	0	3	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:43928002C>A	ENST00000396879.1	-	10	1156	c.1044G>T	c.(1042-1044)agG>agT	p.R348S	CATSPER2_ENST00000355438.2_Missense_Mutation_p.R348S|CATSPER2_ENST00000381761.1_Missense_Mutation_p.R354S|CATSPER2_ENST00000321596.5_Missense_Mutation_p.R348S|CATSPER2_ENST00000354127.4_Missense_Mutation_p.R348S|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	348					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCAGCTCTTTCCTGATATTCT	0.512													13	20					0.00244969	0.00459703	1	0	A	43928002	C	A	43928002	3	1	290	1	0	0	0	0	1	0	0	0	2713	854	30	2	568	2	CATSPER2	15	43928002	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	306167	43928002	58603390	232	51468											
TEX9	374618	broad.mit.edu	37	chr15	56683602	56683602	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattttttctggtgttagtaAtgacattggaacaggtagat	11	17	10	3	0	1	2	0	1	1	1	1	3	1	3	0	3	1	3	0	3	5	8			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:56683602A>T	ENST00000558083.2	+	6	662	c.332A>T	c.(331-333)aAt>aTt	p.N111I	TEX9_ENST00000352903.2_Missense_Mutation_p.N186I|TEX9_ENST00000561221.2_Missense_Mutation_p.N186I|TEX9_ENST00000537232.1_Missense_Mutation_p.N111I			Q8N6V9	TEX9_HUMAN	testis expressed 9	186										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GGTGTTAGTAATGACATTGGA	0.313													11	27					0	0	0	0	T	56683602	A	T	56683602	3	4	290	1	0	0	0	0	1	0	0	0	15878	101	4	5	583	5	TEX9	15	56683602	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	12755600	56683602	45847790	233	51469											
VPS13C	54832	broad.mit.edu	37	chr15	62242607	62242607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttaaattctggtccatCactgtctgcctacaaatagt	11	15	6	9	0	3	0	1	0	2	0	4	0	4	0	2	1	2	1	2	1	5	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:62242607C>A	ENST00000261517.5	-	41	4619	c.4546G>T	c.(4546-4548)Gat>Tat	p.D1516Y	VPS13C_ENST00000395896.4_Missense_Mutation_p.D1516Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.D1473Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.D1473Y	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1516					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTGGTCCATCACTGTCTGCC	0.313													5	15					0.000602214	0.00114744	1	0	A	62242607	C	A	62242607	3	1	290	1	0	0	0	0	1	0	0	0	17287	826	29	2	6923	2	VPS13C	15	62242607	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	5559005	62242607	40288785	234	51470											
MEGF11	84465	broad.mit.edu	37	chr15	66249955	66249955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccattctgacaggtgcaaGgcagctggcagccatcgcca	9	6	12	14	2	1	1	0	1	1	0	2	1	1	1	3	3	3	4	3	3	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:66249955G>T	ENST00000409699.2	-	10	1389	c.1217C>A	c.(1216-1218)cCt>cAt	p.P406H	MEGF11_ENST00000395625.2_Missense_Mutation_p.P331H|MEGF11_ENST00000288745.3_Missense_Mutation_p.P331H|MEGF11_ENST00000360698.4_Missense_Mutation_p.P406H|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.P406H			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	406	EGF-like 7.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						ACAGGTGCAAGGCAGCTGGCA	0.612													9	19					1.12685e-05	2.25673e-05	1	0	T	66249955	G	T	66249955	3	4	290	1	0	0	0	0	1	0	0	0	9530	1000	35	4	1973	4	MEGF11	15	66249955	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	4007348	66249955	36281437	235	51471											
NTRK3	4916	broad.mit.edu	37	chr15	88669548	88669548	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatatttgttgatcatgacGaagagaaccaccaacaggac	15	8	8	10	1	1	3	1	2	0	1	1	6	1	4	3	1	2	1	3	1	4	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:88669548G>A	ENST00000394480.1	-	13	1671	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	NTRK3_ENST00000540489.2_Silent_p.F450F|NTRK3_ENST00000558676.1_Silent_p.F442F|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000557856.1_Silent_p.F442F|NTRK3_ENST00000542733.2_Silent_p.F352F|NTRK3_ENST00000357724.2_Silent_p.F442F|NTRK3_ENST00000355254.2_Silent_p.F450F|NTRK3_ENST00000360948.2_Silent_p.F450F|NTRK3_ENST00000317501.3_Silent_p.F450F	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	450					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATCATGACGAAGAGAACCA	0.453			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			12	27					0	0	0	0	A	88669548	G	A	88669548	2	1	290	1	0	0	0	0	0	0	0	1	10779	1049	37	1		1	NTRK3	15	88669548	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	22419593	88669548	13861844	236	51472											
IGF1R	3480	broad.mit.edu	37	chr15	99251053	99251053	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaactacgccctggtcatCttcgagatgaccaatctcaa	12	10	6	13	2	3	2	2	1	2	1	5	3	3	2	2	1	3	0	2	1	5	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:99251053C>A	ENST00000268035.6	+	2	968	c.357C>A	c.(355-357)atC>atA	p.I119I	IGF1R_ENST00000558762.1_Silent_p.I119I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	119					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCCTGGTCATCTTCGAGATGA	0.532													32	28					2.81731e-10	6.37963e-10	1	0	A	99251053	C	A	99251053	2	1	290	1	0	0	0	0	0	0	0	1	7624	903	32	2		2	IGF1R	15	99251053	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	10581505	99251053	3280339	237	51473											
ABAT	18	broad.mit.edu	37	chr16	8851634	8851634	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttacagccaccccgccctgCtgaaactcatccaacagcct	10	7	6	18	1	1	1	1	1	0	0	2	1	2	1	6	0	6	2	6	0	3	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:8851634C>G	ENST00000396600.2	+	6	1275	c.337C>G	c.(337-339)Ctg>Gtg	p.L113V	ABAT_ENST00000567812.1_Missense_Mutation_p.L128V|ABAT_ENST00000425191.2_Missense_Mutation_p.L113V|ABAT_ENST00000268251.8_Missense_Mutation_p.L113V|ABAT_ENST00000569156.1_Missense_Mutation_p.L113V	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	113				L -> V (in Ref. 1; AAA74449).	behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CCCCGCCCTGCTGAAACTCAT	0.522													11	43					0	0	0	0	G	8851634	C	G	8851634	3	3	290	1	0	0	0	0	1	0	0	0	27	796	28	4	355	4	ABAT	16	8851634	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08		8851634	81503119	238	51474											
ANKS4B	257629	broad.mit.edu	37	chr16	21261971	21261971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcacctggaagaattcctgCctatcttcaagagagagcag	13	8	10	10	0	2	3	1	0	1	3	3	5	3	4	3	1	3	2	3	1	4	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:21261971C>T	ENST00000311620.5	+	2	1157	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	362	SAM.									NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGAATTCCTGCCTATCTTCAA	0.522													17	40					0	0	0	0	T	21261971	C	T	21261971	3	4	290	1	0	0	0	0	1	0	0	0	690	739	26	4	1090	4	ANKS4B	16	21261971	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	12410337	21261971	69092782	239	51475											
SRCAP	10847	broad.mit.edu	37	chr16	30745886	30745886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catccgtgccctctgcccctGaagaggaggaagagactgtg	9	7	13	12	1	1	3	0	1	1	2	2	6	2	5	4	2	2	0	4	2	2	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:30745886G>A	ENST00000262518.4	+	31	7064	c.6679G>A	c.(6679-6681)Gaa>Aaa	p.E2227K	SRCAP_ENST00000344771.4_Missense_Mutation_p.E2069K|SRCAP_ENST00000395059.2_Missense_Mutation_p.E2165K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2227	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCTGCCCCTGAAGAGGAGGA	0.498													35	93					0	0	0	0	A	30745886	G	A	30745886	3	1	290	1	0	0	0	0	1	0	0	0	15225	1291	45	2	6793	2	SRCAP	16	30745886	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	9483915	30745886	59608867	240	51476											
PYDC1	260434	broad.mit.edu	37	chr16	31228118	31228118	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcggcctcctccaacaTgcgcatgtcgcgcagcacgg	6	6	12	17	6	0	0	0	0	0	0	3	0	2	0	4	2	4	3	4	2	1	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:31228118T>C	ENST00000302964.3	-	1	562	c.232A>G	c.(232-234)Atg>Gtg	p.M78V	TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	78	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCCTCCAACATGCGCATGTCG	0.662													16	53					0	0	0	0	C	31228118	T	C	31228118	3	2	290	1	0	0	0	0	1	0	0	0	12940	1464	51	5	41	5	PYDC1	16	31228118	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	482232	31228118	59126635	241	51477											
ITGAM	3684	broad.mit.edu	37	chr16	31340609	31340609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaataccagtcgggtcatGcagcatcaatatcaggtggg	12	8	13	8	1	3	1	3	0	0	1	4	2	3	1	1	3	3	2	1	3	4	2	rs61758333		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:31340609G>T	ENST00000544665.3	+	24	2927	c.2856G>T	c.(2854-2856)atG>atT	p.M952I	ITGAM_ENST00000287497.8_Missense_Mutation_p.M951I	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	951					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GTCGGGTCATGCAGCATCAAT	0.502													7	16					1.06961e-07	2.26381e-07	1	0	T	31340609	G	T	31340609	3	4	290	1	0	0	0	0	1	0	0	0	7940	1319	46	4	2950	4	ITGAM	16	31340609	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	112491	31340609	59014144	242	51478											
PRSS54	221191	broad.mit.edu	37	chr16	58325037	58325037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaagctttctggacgccaCaacctgcggagcaggtgcgg	8	6	15	12	4	1	0	0	0	1	0	1	3	1	3	2	5	5	2	2	5	2	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:58325037C>T	ENST00000219301.4	-	4	483	c.89G>A	c.(88-90)tGt>tAt	p.C30Y	PRSS54_ENST00000567164.1_Missense_Mutation_p.C30Y|PRSS54_ENST00000543437.1_Intron	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	30					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGGACGCCACAACCTGCGGA	0.622													11	24					0	0	0	0	T	58325037	C	T	58325037	3	4	290	1	0	0	0	0	1	0	0	0	12712	478	17	4	1114	4	PRSS54	16	58325037	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	26984428	58325037	32029716	243	51479											
CNOT1	23019	broad.mit.edu	37	chr16	58568212	58568212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctcagcctgagcacGgtaactgatttcaacacaca	11	9	8	13	1	2	2	2	2	0	0	2	2	2	2	1	1	6	4	1	1	2	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:58568212G>A	ENST00000317147.5	-	40	6066	c.5734C>T	c.(5734-5736)Cgt>Tgt	p.R1912C	CNOT1_ENST00000569240.1_Missense_Mutation_p.R1907C|CNOT1_ENST00000245138.4_Missense_Mutation_p.R763C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1912					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCCTGAGCACGGTAACTGATT	0.478													9	37					0	0	0	0	A	58568212	G	A	58568212	3	1	290	1	0	0	0	0	1	0	0	0	3647	1116	39	1	1436	1	CNOT1	16	58568212	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	243175	58568212	31786541	244	51480											
CTCF	10664	broad.mit.edu	37	chr16	67660581	67660581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacacaagaatgagaagcGctttaagtgtgaccagtgtg	13	9	12	7	1	1	3	1	2	0	2	1	4	1	3	1	0	1	1	1	0	4	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:67660581G>T	ENST00000264010.4	+	8	1925	c.1481G>T	c.(1480-1482)cGc>cTc	p.R494L	CTCF_ENST00000401394.1_Missense_Mutation_p.R166L	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	494					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AATGAGAAGCGCTTTAAGTGT	0.453													10	38					4.68919e-08	9.95284e-08	1	0	T	67660581	G	T	67660581	3	4	290	1	0	0	0	0	1	0	0	0	4032	1087	38	3	1503	3	CTCF	16	67660581	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	9092369	67660581	22694172	245	51481											
CHST6	4166	broad.mit.edu	37	chr16	75513529	75513529	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgggctccattaggtagaaGacgtcggggtgctggttgaa	8	9	17	7	3	0	3	0	1	0	2	2	3	1	3	1	5	1	4	1	5	4	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:75513529G>C	ENST00000332272.4	-	3	377	c.198C>G	c.(196-198)gtC>gtG	p.V66V	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.V66V	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	66			V -> L (in MCD).		keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTAGGTAGAAGACGTCGGGGT	0.687													14	37					0	0	0	0	C	75513529	G	C	75513529	2	2	290	1	0	0	0	0	0	0	0	1	3437	929	33	2		2	CHST6	16	75513529	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	7852948	75513529	14841224	246	51482											
ADAMTS18	170692	broad.mit.edu	37	chr16	77353779	77353779	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcatttgtgggccctggCgcgtacagacgttccgggcg	4	10	15	12	5	1	1	1	0	1	1	3	1	2	1	2	3	1	2	2	3	1	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:77353779C>G	ENST00000282849.5	-	16	2917	c.2499G>C	c.(2497-2499)gcG>gcC	p.A833A		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	833	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A833A(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGGCCCTGGCGCGTACAGAC	0.542													17	74					0	0	0	0	G	77353779	C	G	77353779	2	3	290	1	0	0	0	0	0	0	0	1	263	755	27	3		3	ADAMTS18	16	77353779	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	1840250	77353779	13000974	247	51483											
CMIP	80790	broad.mit.edu	37	chr16	81712034	81712034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggctcaagtcggtggtcGtggcctccagtgagatccac	6	8	13	14	3	1	1	1	1	0	1	5	2	3	1	4	4	0	1	4	4	1	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:81712034G>C	ENST00000537098.3	+	10	1261	c.1189G>C	c.(1189-1191)Gtg>Ctg	p.V397L	CMIP_ENST00000398040.4_Missense_Mutation_p.V244L|CMIP_ENST00000539778.2_Missense_Mutation_p.V303L|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	363						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						GTCGGTGGTCGTGGCCTCCAG	0.662													6	7					0	0	0	0	C	81712034	G	C	81712034	3	2	290	1	0	0	0	0	1	0	0	0	3608	1145	40	3	1249	3	CMIP	16	81712034	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	4358255	81712034	8642719	248	51484											
ZC3H18	124245	broad.mit.edu	37	chr16	88688786	88688786	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcgtcagcctctgcctctAattcctccaggtaaggaggg	7	10	10	14	1	3	0	1	0	2	0	6	1	5	1	5	3	2	1	5	3	2	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:88688786A>T	ENST00000301011.5	+	9	1857	c.1657A>T	c.(1657-1659)Aat>Tat	p.N553Y	ZC3H18_ENST00000452588.2_Missense_Mutation_p.N577Y	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	553	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTCTGCCTCTAATTCCTCCAG	0.622													4	21					0	0	0	0	T	88688786	A	T	88688786	3	4	290	1	0	0	0	0	1	0	0	0	17663	362	13	5	1687	5	ZC3H18	16	88688786	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	6976752	88688786	1665967	249	51485											
GALNS	2588	broad.mit.edu	37	chr16	88884501	88884501	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaccgaggtgatcctgcTgagggcctcctggtactcgg	6	8	15	12	3	0	2	0	2	0	0	3	5	2	2	4	4	2	2	4	4	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:88884501T>A	ENST00000268695.5	-	13	1484	c.1396A>T	c.(1396-1398)Agc>Tgc	p.S466C	GALNS_ENST00000542788.1_Missense_Mutation_p.S391C	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	466						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GTGATCCTGCTGAGGGCCTCC	0.667													3	14					0	0	0	0	A	88884501	T	A	88884501	3	1	290	1	0	0	0	0	1	0	0	0	6255	1580	55	5	180	5	GALNS	16	88884501	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	195715	88884501	1470252	250	51486											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	6	9	14	12	2	2	0	2	0	0	0	3	0	3	0	3	3	3	2	3	3	1	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:7578413C>T	ENST00000420246.2	-	5	649	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCCTCACAACCTCCGTC	0.662		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	51					0	0	0	0	T	7578413	C	T	7578413	3	4	290	1	0	0	0	0	1	0	0	0	16476	478	17	4	781	4	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08		7578413	73616797	251	51487											
DHRS7C	201140	broad.mit.edu	37	chr17	9676237	9676237	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcgtgcttggaggcagCgtctgcgagacaaaccatcc	8	7	14	12	3	1	1	0	0	1	1	2	3	2	2	2	3	5	3	2	3	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:9676237C>A	ENST00000330255.4	-	5	589	c.577G>T	c.(577-579)Gct>Tct	p.A193S	DHRS7C_ENST00000571134.1_Missense_Mutation_p.A192S	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	193						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TTGGAGGCAGCGTCTGCGAGA	0.617													7	23					2.0095e-06	4.10158e-06	1	0	A	9676237	C	A	9676237	3	1	290	1	0	0	0	0	1	0	0	0	4534	768	27	3	369	3	DHRS7C	17	9676237	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	2097824	9676237	71518973	252	51488											
RNF135	84282	broad.mit.edu	37	chr17	29326072	29326072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgaggagggaaagcttGccttctattcagtggacaat	11	11	11	8	0	2	1	1	1	1	0	2	4	2	4	2	3	2	1	2	3	3	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:29326072G>T	ENST00000328381.5	+	5	2035	c.1162G>T	c.(1162-1164)Gcc>Tcc	p.A388S	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	388	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GGGAAAGCTTGCCTTCTATTC	0.527													7	96					2.0095e-06	4.10158e-06	1	0	T	29326072	G	T	29326072	3	4	290	1	0	0	0	0	1	0	0	0	13525	1319	46	4	1249	4	RNF135	17	29326072	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	19649835	29326072	51869138	253	51489											
NF1	4763	broad.mit.edu	37	chr17	29553550	29553550	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgtggaaccctgacaCtgaagctgttctggttgcca	7	13	11	10	0	2	2	0	2	2	0	2	3	2	3	2	2	3	4	2	2	2	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:29553550C>G	ENST00000358273.4	+	18	2482	c.2099C>G	c.(2098-2100)aCt>aGt	p.T700S	NF1_ENST00000356175.3_Missense_Mutation_p.T700S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	700					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.T700S(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACCCTGACACTGAAGCTGTT	0.552			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	107					0	0	0	0	G	29553550	C	G	29553550	3	3	290	1	0	0	0	0	1	0	0	0	10426	565	20	4	2230	4	NF1	17	29553550	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	227478	29553550	51641660	254	51490											
SRCIN1	80725	broad.mit.edu	37	chr17	36720486	36720486	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactcggcggaggcgtaggAcagctttgccgcctggtctg	5	8	16	12	5	1	0	0	0	1	0	2	3	1	2	2	5	2	2	2	5	1	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:36720486A>G	ENST00000264659.7	-	4	633	c.409T>C	c.(409-411)Tcc>Ccc	p.S137P	SRCIN1_ENST00000578925.1_Missense_Mutation_p.S171P|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	154					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GAGGCGTAGGACAGCTTTGCC	0.687													3	5					0	0	0	0	G	36720486	A	G	36720486	3	3	290	1	0	0	0	0	1	0	0	0	15226	275	10	5	3206	5	SRCIN1	17	36720486	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	7166936	36720486	44474724	255	51491											
ERBB2	2064	broad.mit.edu	37	chr17	37884229	37884229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagagcggggggctccaCccagcaccttcaaagggaca	11	3	12	15	1	1	1	1	0	0	1	2	2	2	2	4	4	2	2	4	4	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:37884229C>T	ENST00000406381.2	+	29	4120	c.3610C>T	c.(3610-3612)Ccc>Tcc	p.P1204S	ERBB2_ENST00000445658.2_Missense_Mutation_p.P958S|ERBB2_ENST00000269571.5_Missense_Mutation_p.P1234S|ERBB2_ENST00000584601.1_Missense_Mutation_p.P1204S|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000541774.1_Missense_Mutation_p.P1219S|ERBB2_ENST00000540147.1_Missense_Mutation_p.P1204S	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1234					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GGGGGCTCCACCCAGCACCTT	0.632		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			12	68					0	0	0	0	T	37884229	C	T	37884229	3	4	290	1	0	0	0	0	1	0	0	0	5244	507	18	4	3806	4	ERBB2	17	37884229	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	1163743	37884229	43310981	256	51492											
RARA	5914	broad.mit.edu	37	chr17	38508182	38508184	+	In_Frame_Del	DEL	AAG	AAG	-																															ctgtgagaaacgaccgaaacAagaagaagaaggaggtgccc																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:38508182_38508184delAAG	ENST00000254066.5	+	5	945_947	c.490_492delAAG	c.(490-492)del	p.K167del	RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394081.3_In_Frame_Del_p.K162del|RARA_ENST00000394086.3_In_Frame_Del_p.K183del|RARA_ENST00000394089.2_In_Frame_Del_p.K167del|RARA_ENST00000425707.3_In_Frame_Del_p.K70del	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	167	Hinge.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CGACCGAAACAAGAAGAAGAAGG	0.616			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL								8	18	---	---	---	---					-	38508184	AAG	-	38508182	7	5	290	1	0	1	0	1	0	0	0	0	13134	131	5	0	671	0	RARA	17	38508182	In_Frame_Del	DEL	AAG	TCGA-CV-7242-01A-11D-2012-08	623953	38508182	42687028	257	51493											
WNK4	65266	broad.mit.edu	37	chr17	40933194	40933194	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaagaaaaggaggacAtggagacccaggctgtggca	15	3	16	7	0	0	2	0	0	0	2	0	6	0	5	1	6	1	3	1	6	3	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:40933194A>G	ENST00000246914.5	+	1	499	c.478A>G	c.(478-480)Atg>Gtg	p.M160V		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	160					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAAGGAGGACATGGAGACCCA	0.627													19	49					0	0	0	0	G	40933194	A	G	40933194	3	3	290	1	0	0	0	0	1	0	0	0	17476	217	8	5	480	5	WNK4	17	40933194	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	2425012	40933194	40262016	258	51494											
MRPL10	124995	broad.mit.edu	37	chr17	45901757	45901757	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccccctgcaccaggggCaggctggggagcttggagta	7	6	16	12	0	0	0	0	0	0	0	1	2	1	2	3	6	3	6	3	6	1	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:45901757C>T	ENST00000290208.7	-	5	1082	c.630G>A	c.(628-630)ctG>ctA	p.L210L	MRPL10_ENST00000414011.1_Silent_p.L210L|MRPL10_ENST00000351111.2_Silent_p.L200L			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	200					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCACCAGGGGCAGGCTGGGGA	0.617													21	41					0	0	0	0	T	45901757	C	T	45901757	2	4	290	1	0	0	0	0	0	0	0	1	9845	697	25	4		4	MRPL10	17	45901757	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	4968563	45901757	35293453	259	51495											
COL1A1	1277	broad.mit.edu	37	chr17	48268775	48268775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggccctggaagaccagctGcaccacgttcaccaggcatt	10	7	10	14	1	1	1	1	0	0	1	1	2	1	2	4	3	2	4	4	3	2	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:48268775G>A	ENST00000225964.5	-	32	2322	c.2204C>T	c.(2203-2205)gCa>gTa	p.A735V		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	735	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AAGACCAGCTGCACCACGTTC	0.597			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						25	67					0	0	0	0	A	48268775	G	A	48268775	3	1	290	1	0	0	0	0	1	0	0	0	3707	1319	46	4	2270	4	COL1A1	17	48268775	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	2367018	48268775	32926435	260	51496											
KIF2B	84643	broad.mit.edu	37	chr17	51901021	51901021	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcagtcctggagcccccGcaagaacatcgcatctgcgt	9	8	9	15	3	2	1	1	0	2	1	5	2	3	2	3	1	3	2	3	1	2	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:51901021G>C	ENST00000268919.4	+	1	783	c.627G>C	c.(625-627)ccG>ccC	p.P209P		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	209					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAGCCCCCGCAAGAACATC	0.537													10	58					0	0	0	0	C	51901021	G	C	51901021	2	2	290	1	0	0	0	0	0	0	0	1	8349	1074	38	3		3	KIF2B	17	51901021	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	3632246	51901021	29294189	261	51497											
ABCA10	10349	broad.mit.edu	37	chr17	67218001	67218001	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagccagtactttgccaagtAacaaaaaatttcaccatgca	16	10	5	10	0	1	0	1	0	0	0	1	0	1	0	3	0	5	3	3	0	7	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:67218001A>G	ENST00000269081.4	-	6	1144	c.235T>C	c.(235-237)Tac>Cac	p.Y79H	ABCA10_ENST00000416101.2_Missense_Mutation_p.Y79H|ABCA10_ENST00000432313.2_Missense_Mutation_p.Y79H|ABCA10_ENST00000423818.2_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	79					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTTGCCAAGTAACAAAAAATT	0.338													7	14					0	0	0	0	G	67218001	A	G	67218001	3	3	290	1	0	0	0	0	1	0	0	0	29	362	13	5	4536	5	ABCA10	17	67218001	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	15316980	67218001	13977209	262	51498											
CCDC40	55036	broad.mit.edu	37	chr17	78011950	78011950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaagatggatcggcttctGagggagagaaggaagggaat	13	6	18	4	2	1	3	0	1	1	2	2	9	1	8	0	6	0	1	0	6	4	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:78011950G>C	ENST00000397545.4	+	2	85	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	CCDC40_ENST00000269318.5_Missense_Mutation_p.E20Q|CCDC40_ENST00000374876.4_Missense_Mutation_p.E20Q|CCDC40_ENST00000374877.3_Missense_Mutation_p.E20Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	20					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATCGGCTTCTGAGGGAGAGAA	0.418													5	35					0	0	0	0	C	78011950	G	C	78011950	3	2	290	1	0	0	0	0	1	0	0	0	2838	1291	45	2	64	2	CCDC40	17	78011950	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	10793949	78011950	3183260	263	51499											
NPLOC4	55666	broad.mit.edu	37	chr17	79564324	79564324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatcttctgagacgaggtCtgtaaatatccagccaacct	11	11	9	10	1	3	1	0	1	3	1	4	3	4	1	3	2	2	2	3	2	5	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:79564324C>A	ENST00000374747.5	-	10	1069	c.940G>T	c.(940-942)Gac>Tac	p.D314Y	NPLOC4_ENST00000539314.1_Missense_Mutation_p.D153Y|NPLOC4_ENST00000331134.6_Missense_Mutation_p.D314Y			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	314					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAGACGAGGTCTGTAAATATC	0.478													16	74					3.52763e-06	7.14154e-06	1	0	A	79564324	C	A	79564324	3	1	290	1	0	0	0	0	1	0	0	0	10657	913	32	2	918	2	NPLOC4	17	79564324	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	1552374	79564324	1630886	264	51500											
NPLOC4	55666	broad.mit.edu	37	chr17	79589283	79589283	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccgagaagccattattttGgaagccaaactcctttgcaa	14	10	7	10	1	0	1	0	0	0	1	1	3	1	2	4	1	5	1	4	1	6	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:79589283G>A	ENST00000374747.5	-	3	247	c.118C>T	c.(118-120)Caa>Taa	p.Q40*	NPLOC4_ENST00000539314.1_5'UTR|NPLOC4_ENST00000331134.6_Nonsense_Mutation_p.Q40*			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	40					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCATTATTTTGGAAGCCAAAC	0.388													9	77					0	0	0	0	A	79589283	G	A	79589283	4	1	290	1	0	0	0	0	0	1	0	0	10657	1357	47	4	1768	4	NPLOC4	17	79589283	Nonsense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	24959	79589283	1605927	265	51501											
LPIN2	9663	broad.mit.edu	37	chr18	2937737	2937737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagctgccggtttggattctGagggcgcctccgctaaggct	5	11	14	11	3	1	1	0	1	1	0	2	2	2	2	3	4	2	4	3	4	2	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:2937737G>A	ENST00000261596.4	-	7	1359	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	374					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TTTGGATTCTGAGGGCGCCTC	0.463													20	74					0	0	0	0	A	2937737	G	A	2937737	3	1	290	1	0	0	0	0	1	0	0	0	8983	1294	45	2	1625	2	LPIN2	18	2937737	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08		2937737	75139511	266	51502											
TMEM200C	645369	broad.mit.edu	37	chr18	5890361	5890361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctctgctccgcacccaGaacgggggcggccacagcag	8	3	14	16	4	1	1	0	0	1	1	2	2	2	1	3	3	4	4	3	3	1	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:5890361G>T	ENST00000581347.1	-	3	2347	c.1702C>A	c.(1702-1704)Ctg>Atg	p.L568M	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.L568M			A6NKL6	T200C_HUMAN	transmembrane protein 200C	568						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TCCGCACCCAGAACGGGGGCG	0.652													14	47					7.93312e-07	1.64172e-06	1	0	T	5890361	G	T	5890361	3	4	290	1	0	0	0	0	1	0	0	0	16219	933	33	2	167	2	TMEM200C	18	5890361	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	2952624	5890361	72186887	267	51503											
OSBPL1A	114876	broad.mit.edu	37	chr18	21751402	21751402	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtagccttcaactttGtgtaattccttaccaaaaag	13	14	6	8	0	1	1	1	1	0	0	2	1	2	1	3	0	3	2	3	0	7	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:21751402G>C	ENST00000319481.3	-	23	2468	c.2262C>G	c.(2260-2262)caC>caG	p.H754Q	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.H372Q|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.H241Q	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	754					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTCAACTTTGTGTAATTCCT	0.294													31	71					0	0	0	0	C	21751402	G	C	21751402	3	2	290	1	0	0	0	0	1	0	0	0	11348	1368	48	4	614	4	OSBPL1A	18	21751402	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	15861041	21751402	56325846	268	51504											
ASXL3	80816	broad.mit.edu	37	chr18	31226289	31226289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtacagatatggccgaGgcaaatgcccatggagaaga	14	6	14	7	1	0	3	0	0	0	3	0	6	0	3	2	4	2	2	2	4	4	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:31226289G>A	ENST00000269197.5	+	4	327	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATATGGCCGAGGCAAATGCCC	0.383													17	45					0	0	0	0	A	31226289	G	A	31226289	2	1	290	1	0	0	0	0	0	0	0	1	1072	991	35	4		4	ASXL3	18	31226289	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	9474887	31226289	46850959	269	51505											
MAPK4	5596	broad.mit.edu	37	chr18	48190452	48190452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcggccgtggacagccggGcctgccggaaggtcgctgtg	4	7	18	12	5	0	0	0	0	0	0	2	2	0	2	4	5	2	1	4	5	1	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:48190452G>A	ENST00000400384.2	+	2	1160	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	MAPK4_ENST00000588540.1_Missense_Mutation_p.A42T|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.A42T	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	42	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGACAGCCGGGCCTGCCGGAA	0.612													14	48					0	0	0	0	A	48190452	G	A	48190452	3	1	290	1	0	0	0	0	1	0	0	0	9349	1203	42	4	126	4	MAPK4	18	48190452	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	16964163	48190452	29886796	270	51506											
DOK6	220164	broad.mit.edu	37	chr18	67406203	67406203	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctctattctcacagaaTgtgtgacacaggagaaggac	13	10	9	9	0	2	3	1	1	2	2	4	5	2	4	0	2	0	0	0	2	4	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:67406203T>C	ENST00000382713.5	+	6	792	c.602T>C	c.(601-603)aTg>aCg	p.M201T	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	201	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCTCACAGAATGTGTGACACA	0.453													30	77					0	0	0	0	C	67406203	T	C	67406203	3	2	290	1	0	0	0	0	1	0	0	0	4737	1464	51	5	624	5	DOK6	18	67406203	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	19215751	67406203	10671045	271	51507											
ABCA7	10347	broad.mit.edu	37	chr19	1058907	1058912	+	In_Frame_Del	DEL	GGGGAT	GGGGAT	-																															tggtccaaggagccacccagGgggatgtgttggtgctgagg																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:1058907_1058912delGGGGAT	ENST00000263094.6	+	39	5599_5604	c.5368_5373delGGGGAT	c.(5368-5373)del	p.GD1790del	ABCA7_ENST00000435683.2_In_Frame_Del_p.GD1652del|ABCA7_ENST00000433129.1_In_Frame_Del_p.GD1790del	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1790					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		AGCCACCCAGGGGGATGTGTTGGTGC	0.626													10	56	---	---	---	---					-	1058912	GGGGAT	-	1058907	7	5	290	1	0	1	0	1	0	0	0	0	37	1232	43	0	5518	0	ABCA7	19	1058907	In_Frame_Del	DEL	GGGGAT	TCGA-CV-7242-01A-11D-2012-08		1058907	58070076	272	51508											
C19orf35	374872	broad.mit.edu	37	chr19	2276353	2276353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcggctgccagcgccactgCgcctctccagggcgccccgg	3	5	13	20	5	1	0	0	0	1	0	3	0	1	0	6	3	3	1	6	3	0	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:2276353C>T	ENST00000342063.3	-	4	841	c.748G>A	c.(748-750)Gca>Aca	p.A250T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	250										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		AGCGCCACTGCGCCTCTCCAG	0.711													7	16					0	0	0	0	T	2276353	C	T	2276353	3	4	290	1	0	0	0	0	1	0	0	0	1938	768	27	1	677	1	C19orf35	19	2276353	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	1217446	2276353	56852630	273	51509											
MRPL54	116541	broad.mit.edu	37	chr19	3762721	3762721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgaccaaacgccttttcgGggctacccggacgtgggccg	6	6	15	14	6	0	0	0	0	0	0	1	2	0	1	4	5	2	1	4	5	2	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:3762721G>T	ENST00000330133.4	+	1	60	c.23G>T	c.(22-24)gGg>gTg	p.G8V		NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	8						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTTTTCGGGGCTACCCGG	0.627													22	92					4.26978e-12	9.94057e-12	1	0	T	3762721	G	T	3762721	3	4	290	1	0	0	0	0	1	0	0	0	9888	1232	43	4	25	4	MRPL54	19	3762721	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	1486368	3762721	55366262	274	51510											
MATK	4145	broad.mit.edu	37	chr19	3784203	3784203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagcccctcctgtccaCtggtgtggtgcttgacgcgg	4	9	13	15	2	0	1	0	1	0	0	2	1	2	1	5	3	3	2	5	3	0	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:3784203C>A	ENST00000310132.6	-	5	679	c.281G>T	c.(280-282)aGt>aTt	p.S94I	MATK_ENST00000395045.2_Missense_Mutation_p.S95I|MATK_ENST00000585778.1_Missense_Mutation_p.S94I|MATK_ENST00000395040.2_Missense_Mutation_p.S53I	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	94	SH3.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTGTCCACTGGTGTGGTG	0.692													23	57					4.26978e-12	9.94057e-12	1	0	A	3784203	C	A	3784203	3	1	290	1	0	0	0	0	1	0	0	0	9401	565	20	4	1282	4	MATK	19	3784203	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	21482	3784203	55344780	275	51511											
PTPRS	5802	broad.mit.edu	37	chr19	5222178	5222178	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcagggaactcccagcTgagcagaactgatgtcttca	10	10	11	10	0	3	3	2	2	1	1	4	4	4	4	1	1	4	3	1	1	2	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:5222178T>A	ENST00000372412.4	-	19	3393	c.3160A>T	c.(3160-3162)Agc>Tgc	p.S1054C	PTPRS_ENST00000588012.1_Missense_Mutation_p.S1031C|PTPRS_ENST00000357368.4_Missense_Mutation_p.S1053C|PTPRS_ENST00000353284.2_Missense_Mutation_p.S622C|PTPRS_ENST00000348075.2_Missense_Mutation_p.S1031C|PTPRS_ENST00000592099.1_Missense_Mutation_p.S622C|PTPRS_ENST00000587303.1_Missense_Mutation_p.S1053C|PTPRS_ENST00000262963.6_Missense_Mutation_p.S1049C|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1053	Fibronectin type-III 8.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AACTCCCAGCTGAGCAGAACT	0.587													26	71					0	0	0	0	A	5222178	T	A	5222178	3	1	290	1	0	0	0	0	1	0	0	0	12893	1580	55	5	2769	5	PTPRS	19	5222178	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	1437975	5222178	53906805	276	51512											
DUS3L	56931	broad.mit.edu	37	chr19	5787365	5787365	+	Frame_Shift_Del	DEL	C	C	-																															agcgattcatgagggcacagCccccaccctggaagagacag																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:5787365delC	ENST00000309061.7	-	7	1316	c.1220delG	c.(1219-1221)gcfs	p.G407fs	DUS3L_ENST00000320699.8_Frame_Shift_Del_p.G165fs	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	407					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGGGCACAGCCCCCACCCTG	0.662													17	52	---	---	---	---					-	5787365	C	-	5787365	7	5	290	1	0	1	0	1	0	0	0	0	4843	739	26	0	760	0	DUS3L	19	5787365	Frame_Shift_Del	DEL	C	TCGA-CV-7242-01A-11D-2012-08	565187	5787365	53341618	277	51513											
ARHGEF18	23370	broad.mit.edu	37	chr19	7518437	7518437	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggacgccaaggtcagtgAgtgtgagaagggccagcgcc	10	5	17	9	2	1	2	1	2	0	1	1	4	1	3	3	3	1	0	3	3	2	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:7518437A>T	ENST00000359920.6	+	7	1629	c.1376A>T	c.(1375-1377)gAg>gTg	p.E459V	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.S417C|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.E301V	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	459					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AAGGTCAGTGAGTGTGAGAAG	0.542													27	76					0	0	0	0	T	7518437	A	T	7518437	3	4	290	1	0	0	0	0	1	0	0	0	903	304	11	5	1402	5	ARHGEF18	19	7518437	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	1731072	7518437	51610546	278	51514											
CARM1	10498	broad.mit.edu	37	chr19	11032327	11032327	+	Missense_Mutation	SNP	C	C	T																															gggcagtggtggtggcagcaCgagtgcccactatgcagtca																								rs139191688		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:11032327C>T	ENST00000327064.4	+	16	1911	c.1721C>T	c.(1720-1722)aCg>aTg	p.T574M	CARM1_ENST00000344150.4_Missense_Mutation_p.T551M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	574	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GGTGGCAGCACGAGTGCCCAC	0.677													19	62					0	0	0	0	T	11032327	C	T	11032327	3	4	290	1	0	0	0	0	1	0	0	0	2680	536	19	1	1783	1	CARM1	19	11032327	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	3513890	11032327	48096656	279	51515	403	2									
CARM1	10498	broad.mit.edu	37	chr19	11032328	11032328	+	Silent	SNP	G	G	T																															ggcagtggtggtggcagcacGagtgcccactatgcagtcaa																								rs149968022	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:11032328G>T	ENST00000327064.4	+	16	1912	c.1722G>T	c.(1720-1722)acG>acT	p.T574T	CARM1_ENST00000344150.4_Silent_p.T551T	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	574	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GTGGCAGCACGAGTGCCCACT	0.677													19	62					4.63292e-17	1.15823e-16	1	0	T	11032328	G	T	11032328	2	4	290	1	0	0	0	0	0	0	0	1	2680	1045	37	3		3	CARM1	19	11032328	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	1	11032328	48096655	280	51516	403	2									
ZNF44	51710	broad.mit.edu	37	chr19	12384496	12384496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttataaggtccatctccacCttttactaccatatgtcttc	9	17	3	12	0	2	0	0	0	2	0	5	0	3	0	4	1	2	0	4	1	5	8			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:12384496C>A	ENST00000356109.5	-	5	836	c.718G>T	c.(718-720)Ggt>Tgt	p.G240C	ZNF44_ENST00000355684.5_Missense_Mutation_p.G192C	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CCATCTCCACCTTTTACTACC	0.403													28	60					4.87955e-14	1.16143e-13	1	0	A	12384496	C	A	12384496	3	1	290	1	0	0	0	0	1	0	0	0	18007	681	24	4	1277	4	ZNF44	19	12384496	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	1352168	12384496	46744487	281	51517											
DNASE2	1777	broad.mit.edu	37	chr19	12991695	12991695	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagagcaggaaggcgagCtgcgggcggataaacggagg	11	5	19	6	4	0	1	0	0	0	1	0	5	0	4	0	6	4	3	0	6	4	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:12991695C>G	ENST00000222219.3	-	3	360		c.e3-1		DNASE2_ENST00000538460.1_Splice_Site	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GGAAGGCGAGCTGCGGGCGGA	0.632													14	72					0	0	0	0	G	12991695	C	G	12991695	5	3	290	1	0	0	0	0	0	0	1	0	4700	811	28	4	831	4	DNASE2	19	12991695	Splice_Site	SNP	C	TCGA-CV-7242-01A-11D-2012-08	607199	12991695	46137288	282	51518											
CYP4F3	4051	broad.mit.edu	37	chr19	15770178	15770178	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggcggactttggctgcggGtggagcccctgagctgagtt	5	9	18	9	2	0	2	0	2	0	0	0	4	0	4	2	5	3	3	2	5	0	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:15770178G>C	ENST00000221307.7	+	13	1594	c.1546G>C	c.(1546-1548)Gtg>Ctg	p.V516L	CYP4F3_ENST00000591058.1_Missense_Mutation_p.V516L|CYP4F3_ENST00000586182.1_Missense_Mutation_p.V516L|CYP4F3_ENST00000585846.1_Missense_Mutation_p.V516L	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	516					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TTGGCTGCGGGTGGAGCCCCT	0.622													6	25					0	0	0	0	C	15770178	G	C	15770178	3	2	290	1	0	0	0	0	1	0	0	0	4222	1261	44	4	1592	4	CYP4F3	19	15770178	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	2778483	15770178	43358805	283	51519											
MED26	9441	broad.mit.edu	37	chr19	16687968	16687968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgtgcggtcgcacggCgttgacggggatcttgccac	4	9	17	11	5	1	1	0	1	1	0	2	2	1	2	1	5	2	3	1	5	0	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:16687968C>T	ENST00000263390.3	-	3	935	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A233T	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	225					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GGTCGCACGGCGTTGACGGGG	0.672													16	48					0	0	0	0	T	16687968	C	T	16687968	3	4	290	1	0	0	0	0	1	0	0	0	9513	768	27	1	1133	1	MED26	19	16687968	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	917790	16687968	42441015	284	51520											
CPAMD8	27151	broad.mit.edu	37	chr19	17104378	17104378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcagctgggctgccatCggggtaggatagctccacct	6	8	12	15	1	1	0	1	0	0	0	3	1	2	1	5	4	3	4	5	4	2	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:17104378C>A	ENST00000443236.1	-	12	1286	c.1255G>T	c.(1255-1257)Gat>Tat	p.D419Y	CPAMD8_ENST00000388925.4_Missense_Mutation_p.D372Y	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	372						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGCTGCCATCGGGGTAGGAT	0.532													13	33					3.27435e-08	6.96969e-08	1	0	A	17104378	C	A	17104378	3	1	290	1	0	0	0	0	1	0	0	0	3825	884	31	3	4667	3	CPAMD8	19	17104378	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	416410	17104378	42024605	285	51521											
CRLF1	9244	broad.mit.edu	37	chr19	18707506	18707506	+	Frame_Shift_Del	DEL	C	C	-																															ctttcttggagccatagatgCcaaaggggttgcagcgcact																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:18707506delC	ENST00000392386.3	-	6	1143	c.950delG	c.(949-951)gcfs	p.G317fs		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	317	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GCCATAGATGCCAAAGGGGTT	0.642													7	27	---	---	---	---					-	18707506	C	-	18707506	7	5	290	1	0	1	0	1	0	0	0	0	3916	739	26	0	334	0	CRLF1	19	18707506	Frame_Shift_Del	DEL	C	TCGA-CV-7242-01A-11D-2012-08	1603128	18707506	40421477	286	51522											
ZNF253	56242	broad.mit.edu	37	chr19	20002921	20002922	+	Frame_Shift_Del	DEL	TG	TG	-																															aaccctacaaatgtgaagaaTgtggcaaagcctttaagcac																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:20002921_20002922delTG	ENST00000589717.1	+	4	957_958	c.865_866delTG	c.(865-867)tfs	p.C289fs	ZNF253_ENST00000355650.4_Frame_Shift_Del_p.C213fs	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	289				Missing (in Ref. 1; AAC26844).|Missing (in Ref. 2; BAC11185).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGTGAAGAATGTGGCAAAGCC	0.411													19	50	---	---	---	---					-	20002922	TG	-	20002921	7	5	290	1	0	1	0	1	0	0	0	0	17892	1464	51	0	879	0	ZNF253	19	20002921	Frame_Shift_Del	DEL	TG	TCGA-CV-7242-01A-11D-2012-08	1295415	20002921	39126062	287	51523											
SLC7A9	11136	broad.mit.edu	37	chr19	33353084	33353084	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggctcccacagacagcTgggcgccctcgaaagaatta	11	7	11	12	2	0	3	0	1	0	2	2	4	1	3	2	2	1	2	2	2	3	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:33353084T>C	ENST00000023064.4	-	6	835	c.644A>G	c.(643-645)cAg>cGg	p.Q215R	SLC7A9_ENST00000587772.1_Missense_Mutation_p.Q215R|SLC7A9_ENST00000590341.1_Missense_Mutation_p.Q215R	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	215					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CACAGACAGCTGGGCGCCCTC	0.537													16	71					0	0	0	0	C	33353084	T	C	33353084	3	2	290	1	0	0	0	0	1	0	0	0	14793	1580	55	5	851	5	SLC7A9	19	33353084	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	13350163	33353084	25775899	288	51524											
ZNF792	126375	broad.mit.edu	37	chr19	35449469	35449469	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctggcaatgtggctgaaGaatttcccacattcgttaca	11	11	10	9	1	0	2	0	1	0	1	2	2	1	2	1	3	1	4	1	3	4	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:35449469G>C	ENST00000404801.1	-	4	1676	c.1290C>G	c.(1288-1290)ttC>ttG	p.F430L	ZNF792_ENST00000605484.1_Missense_Mutation_p.F363L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGTGGCTGAAGAATTTCCCAC	0.483													29	71					0	0	0	0	C	35449469	G	C	35449469	3	2	290	1	0	0	0	0	1	0	0	0	18257	933	33	2	612	2	ZNF792	19	35449469	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	2096385	35449469	23679514	289	51525											
HAUS5	23354	broad.mit.edu	37	chr19	36111009	36111009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcgctgagccacaagctggGgctgcctccagggaaggtga	9	5	16	11	1	0	2	0	2	0	0	1	3	1	3	3	4	4	3	3	4	2	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:36111009G>T	ENST00000203166.5	+	16	1527	c.1502G>T	c.(1501-1503)gGg>gTg	p.G501V	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	501					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CACAAGCTGGGGCTGCCTCCA	0.677													42	83					1.62957e-23	4.33582e-23	1	0	T	36111009	G	T	36111009	3	4	290	1	0	0	0	0	1	0	0	0	7019	1232	43	4	1564	4	HAUS5	19	36111009	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	661540	36111009	23017974	290	51526											
CLIP3	25999	broad.mit.edu	37	chr19	36515346	36515346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcgcaagcccagtgcGctaagcatgagattgcctgg	9	6	13	13	2	0	1	0	1	0	1	0	2	0	1	3	2	4	3	3	2	2	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:36515346G>T	ENST00000360535.4	-	7	1097	c.870C>A	c.(868-870)agC>agA	p.S290R	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.S290R	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	290					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCCCAGTGCGCTAAGCATGA	0.622													22	47					3.8784e-16	9.63137e-16	1	0	T	36515346	G	T	36515346	3	4	290	1	0	0	0	0	1	0	0	0	3564	1078	38	3	805	3	CLIP3	19	36515346	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	404337	36515346	22613637	291	51527											
HKR1	284459	broad.mit.edu	37	chr19	37838218	37838218	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataaccatctggtctcactgGgtaagaatggcctcccttgg	9	11	10	11	0	2	1	1	0	2	1	4	1	3	1	3	4	1	1	3	4	3	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:37838218G>C	ENST00000324411.4	+	4	486	c.217_splice	c.e4+1	p.E73_splice	HKR1_ENST00000592168.1_Splice_Site_p.E12_splice|HKR1_ENST00000591259.1_Splice_Site_p.E54_splice|HKR1_ENST00000591134.1_Splice_Site_p.E12_splice|HKR1_ENST00000586897.1_Splice_Site_p.E12_splice|HKR1_ENST00000392153.3_Splice_Site_p.E54_splice|HKR1_ENST00000541583.2_Splice_Site_p.E12_splice|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000544914.1_Intron|HKR1_ENST00000591417.1_Splice_Site_p.E12_splice|HKR1_ENST00000589392.1_Splice_Site_p.E54_splice	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	73	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTCTCACTGGGTAAGAATGG	0.522													21	40					0	0	0	0	C	37838218	G	C	37838218	5	2	290	1	0	0	0	0	0	0	1	0	7244	1246	43	4	223	4	HKR1	19	37838218	Splice_Site	SNP	G	TCGA-CV-7242-01A-11D-2012-08	1322872	37838218	21290765	292	51528											
PLEKHG2	64857	broad.mit.edu	37	chr19	39913657	39913657	+	Missense_Mutation	SNP	C	C	T																															gtgaaattcccgaaggttctCgccttcctagtctctctgac																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:39913657C>T	ENST00000425673.1	+	16	2201	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R596C|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R655C			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	655					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGAAGGTTCTCGCCTTCCTAG	0.527													46	125					0	0	0	0	T	39913657	C	T	39913657	3	4	290	1	0	0	0	0	1	0	0	0	12141	884	31	1	2029	1	PLEKHG2	19	39913657	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	2075439	39913657	19215326	293	51529	404	2									
PLEKHG2	64857	broad.mit.edu	37	chr19	39913658	39913658	+	Missense_Mutation	SNP	G	G	T																															tgaaattcccgaaggttctcGccttcctagtctctctgaca																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:39913658G>T	ENST00000425673.1	+	16	2202	c.1877G>T	c.(1876-1878)cGc>cTc	p.R626L	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R596L|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R655L			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	655					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAAGGTTCTCGCCTTCCTAGT	0.527													46	127					5.34276e-22	1.40153e-21	1	0	T	39913658	G	T	39913658	3	4	290	1	0	0	0	0	1	0	0	0	12141	1087	38	3	2030	3	PLEKHG2	19	39913658	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	1	39913658	19215325	294	51530	404	2									
CEACAM3	1084	broad.mit.edu	37	chr19	42312886	42312886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcctgtgggggccgtcGccggcatcgtgaccggggtc	2	8	17	14	5	0	1	0	1	0	0	4	1	1	1	5	5	0	1	5	5	0	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:42312886G>A	ENST00000357396.3	+	3	701	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	CEACAM3_ENST00000344550.4_Missense_Mutation_p.A154T|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A154T|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	154						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GGGGGCCGTCGCCGGCATCGT	0.607													7	250					0	0	0	0	A	42312886	G	A	42312886	3	1	290	1	0	0	0	0	1	0	0	0	3222	1087	38	1	470	1	CEACAM3	19	42312886	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	2399228	42312886	16816097	295	51531											
PSG11	5680	broad.mit.edu	37	chr19	43519501	43519501	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaggtgactgaagggaaaAttctggggaggtctggacca	13	7	16	5	0	2	3	0	2	2	1	2	6	2	6	1	6	0	0	1	6	4	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:43519501A>T	ENST00000401740.1	-	4	834	c.731T>A	c.(730-732)aTt>aAt	p.I244N	PSG11_ENST00000403486.1_Missense_Mutation_p.I122N|PSG11_ENST00000320078.7_Missense_Mutation_p.I244N|PSG11_ENST00000306322.7_Missense_Mutation_p.I122N			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	244	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGAAGGGAAAATTCTGGGGAG	0.478													28	132					0	0	0	0	T	43519501	A	T	43519501	3	4	290	1	0	0	0	0	1	0	0	0	12733	101	4	5	284	5	PSG11	19	43519501	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	1206615	43519501	15609482	296	51532											
KLC3	147700	broad.mit.edu	37	chr19	45852823	45852823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatgaggcactgggcgggcCccatgaccccaacgtggcca	8	5	13	15	2	0	2	0	2	0	0	0	2	0	2	5	4	1	1	5	4	2	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:45852823C>A	ENST00000470402.1	+	7	1248	c.1148C>A	c.(1147-1149)cCc>cAc	p.P383H	KLC3_ENST00000585434.1_Missense_Mutation_p.P368H|KLC3_ENST00000391946.2_Missense_Mutation_p.P369H			Q6P597	KLC3_HUMAN	kinesin light chain 3	369						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTGGGCGGGCCCCATGACCCC	0.647													13	33					4.7546e-09	1.0297e-08	1	0	A	45852823	C	A	45852823	3	1	290	1	0	0	0	0	1	0	0	0	8387	623	22	4	1132	4	KLC3	19	45852823	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	2333322	45852823	13276160	297	51533											
TBC1D17	79735	broad.mit.edu	37	chr19	50390975	50390975	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctctgtcccgcaccctcagGtgctgtggacagggctccct	4	9	11	17	1	2	0	1	0	1	0	4	1	4	1	4	3	1	3	4	3	0	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:50390975G>T	ENST00000221543.5	+	15	1842	c.1542_splice	c.e15-1	p.V515_splice	TBC1D17_ENST00000535102.2_Splice_Site_p.V482_splice	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	515	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCACCCTCAGGTGCTGTGGAC	0.682													8	23					0.000157383	0.00030534	1	0	T	50390975	G	T	50390975	5	4	290	1	0	0	0	0	0	0	1	0	15697	1275	44	4	1601	4	TBC1D17	19	50390975	Splice_Site	SNP	G	TCGA-CV-7242-01A-11D-2012-08	4538152	50390975	8738008	298	51534											
SHANK1	50944	broad.mit.edu	37	chr19	51172432	51172432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgctgtagggaggctccgGtggggacgtggtgggtggcg	3	9	23	6	3	0	0	0	0	0	0	1	2	1	2	1	8	1	3	1	8	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:51172432G>T	ENST00000293441.1	-	22	2803	c.2785C>A	c.(2785-2787)Ccg>Acg	p.P929T	SHANK1_ENST00000391814.1_Missense_Mutation_p.P937T|SHANK1_ENST00000359082.3_Missense_Mutation_p.P920T|SHANK1_ENST00000391813.1_Missense_Mutation_p.P316T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	929					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGAGGCTCCGGTGGGGACGTG	0.667											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	10					3.59834e-05	7.14869e-05	1	0	T	51172432	G	T	51172432	3	4	290	1	0	0	0	0	1	0	0	0	14352	1261	44	4	3708	4	SHANK1	19	51172432	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	781457	51172432	7956551	299	51535											
SIGLEC7	27036	broad.mit.edu	37	chr19	51650065	51650065	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcggtcgggggagctggagCcacagccctggtcttcctct	4	8	16	13	2	2	0	0	0	2	0	4	2	3	2	3	6	3	1	3	6	0	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:51650065C>A	ENST00000317643.6	+	5	1151	c.1082C>A	c.(1081-1083)gCc>gAc	p.A361D	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.A268D	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	361					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGAGCTGGAGCCACAGCCCTG	0.577													24	85					4.4004e-07	9.18291e-07	1	0	A	51650065	C	A	51650065	3	1	290	1	0	0	0	0	1	0	0	0	14401	739	26	4	1100	4	SIGLEC7	19	51650065	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	477633	51650065	7478918	300	51536											
ZNF808	388558	broad.mit.edu	37	chr19	53058333	53058333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagtaacaggtcatccCttgtatgccatcgtagaatt	10	13	7	11	1	2	1	2	0	0	1	4	1	3	1	3	1	2	3	3	1	4	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:53058333C>A	ENST00000359798.4	+	5	2344	c.2164C>A	c.(2164-2166)Ctt>Att	p.L722I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	722					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGGTCATCCCTTGTATGCCA	0.443													7	265					0.00307968	0.00576473	1	0	A	53058333	C	A	53058333	3	1	290	1	0	0	0	0	1	0	0	0	18266	681	24	4	2174	4	ZNF808	19	53058333	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	1408268	53058333	6070650	301	51537											
NLRP12	91662	broad.mit.edu	37	chr19	54313274	54313274	+	Missense_Mutation	SNP	C	C	T																															cctttcagaaaacgcgtactCggtcaacagcctggtcacgt																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:54313274C>T	ENST00000324134.6	-	3	1807	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	NLRP12_ENST00000345770.5_Missense_Mutation_p.E547K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E547K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E547K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E547K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E547K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E547K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E547K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	547					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AACGCGTACTCGGTCAACAGC	0.572													44	86					0	0	0	0	T	54313274	C	T	54313274	3	4	290	1	0	0	0	0	1	0	0	0	10544	893	31	1	1674	1	NLRP12	19	54313274	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	1254941	54313274	4815709	302	51538	405	2									
NLRP12	91662	broad.mit.edu	37	chr19	54313275	54313275	+	Silent	SNP	G	G	C																															ctttcagaaaacgcgtactcGgtcaacagcctggtcacgtc																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:54313275G>C	ENST00000324134.6	-	3	1806	c.1638C>G	c.(1636-1638)acC>acG	p.T546T	NLRP12_ENST00000345770.5_Silent_p.T546T|NLRP12_ENST00000391772.1_Silent_p.T546T|NLRP12_ENST00000354278.3_Silent_p.T546T|NLRP12_ENST00000351894.4_Silent_p.T546T|NLRP12_ENST00000391775.3_Silent_p.T546T|NLRP12_ENST00000535162.1_Silent_p.T546T|NLRP12_ENST00000391773.1_Silent_p.T546T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	546					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACGCGTACTCGGTCAACAGCC	0.567													44	89					0	0	0	0	C	54313275	G	C	54313275	2	2	290	1	0	0	0	0	0	0	0	1	10544	1103	39	3		3	NLRP12	19	54313275	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	1	54313275	4815708	303	51539	405	2									
CACNG6	59285	broad.mit.edu	37	chr19	54515287	54515287	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcccggagcctcccccGgccccacgcctcacctacga	6	4	9	22	4	2	0	2	0	0	0	3	2	3	1	8	2	3	0	8	2	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:54515287G>T	ENST00000252729.2	+	4	1217	c.627G>T	c.(625-627)ccG>ccT	p.P209P	CACNG6_ENST00000352529.1_Silent_p.P138P|CACNG6_ENST00000346968.2_Silent_p.P163P	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	209						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AGCCTCCCCCGGCCCCACGCC	0.692													15	60					3.41278e-10	7.68134e-10	1	0	T	54515287	G	T	54515287	2	4	290	1	0	0	0	0	0	0	0	1	2586	1103	39	3		3	CACNG6	19	54515287	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	202012	54515287	4613696	304	51540											
CNOT3	4849	broad.mit.edu	37	chr19	54646740	54646740	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacaagcgcaaactccaagGtactagactgacttcctgct	12	8	9	12	1	0	2	0	1	0	1	2	3	2	3	2	2	4	3	2	2	5	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:54646740G>T	ENST00000406403.1	+	1	1628		c.e1+1		CNOT3_ENST00000221232.5_Splice_Site|CNOT3_ENST00000358389.3_Splice_Site			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAACTCCAAGGTACTAGACTG	0.537													20	81					1.96292e-10	4.4721e-10	1	0	T	54646740	G	T	54646740	5	4	290	1	0	0	0	0	0	0	1	0	3650	1275	44	4	28	4	CNOT3	19	54646740	Splice_Site	SNP	G	TCGA-CV-7242-01A-11D-2012-08	131453	54646740	4482243	305	51541											
PEG3	5178	broad.mit.edu	37	chr19	57328850	57328850	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaactgcgtgacacatcCttgatgaatttttccattat	10	16	7	8	1	0	3	0	3	0	0	2	4	2	4	2	1	2	0	2	1	3	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:57328850C>G	ENST00000326441.9	-	10	1323	c.960G>C	c.(958-960)aaG>aaC	p.K320N	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.K196N|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.K194N|PEG3_ENST00000423103.2_Missense_Mutation_p.K320N|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	320					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTGACACATCCTTGATGAATT	0.463													37	92					0	0	0	0	G	57328850	C	G	57328850	3	3	290	1	0	0	0	0	1	0	0	0	11791	680	24	4	3810	4	PEG3	19	57328850	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	2682110	57328850	1800133	306	51542											
SRXN1	140809	broad.mit.edu	37	chr20	629443	629443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggcggggatggtctctCgctgcagttgctggtaggcc	3	11	17	10	2	1	0	0	0	1	0	3	1	1	1	1	6	2	6	1	6	1	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:629443C>A	ENST00000381962.3	-	2	513	c.329G>T	c.(328-330)cGa>cTa	p.R110L	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	110					response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GATGGTCTCTCGCTGCAGTTG	0.607													27	77					2.44723e-14	5.90028e-14	1	0	A	629443	C	A	629443	3	1	290	1	0	0	0	0	1	0	0	0	15263	884	31	3	88	3	SRXN1	20	629443	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08		629443	62396077	307	51543											
SNPH	9751	broad.mit.edu	37	chr20	1285985	1285985	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgagccggacggacgcgCtggaagccagcagcctgctg	8	4	15	14	4	0	1	0	1	0	0	0	4	0	4	3	3	5	3	3	3	1	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:1285985C>A	ENST00000381867.1	+	7	1546	c.904C>A	c.(904-906)Ctg>Atg	p.L302M	SNPH_ENST00000381873.3_Missense_Mutation_p.L258M			O15079	SNPH_HUMAN	syntaphilin	258					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACGGACGCGCTGGAAGCCAG	0.682													23	49					1.85244e-09	4.09516e-09	1	0	A	1285985	C	A	1285985	3	1	290	1	0	0	0	0	1	0	0	0	14938	796	28	4	786	4	SNPH	20	1285985	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	656542	1285985	61739535	308	51544											
TGM3	7053	broad.mit.edu	37	chr20	2312716	2312716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccaacacgccatttgccGcgacgtcttcaatgggtttg	9	10	9	13	4	2	0	1	0	1	0	2	1	2	0	3	1	3	1	3	1	3	3			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:2312716G>A	ENST00000381458.5	+	10	1465	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	468		Cleavage; by CTSL.			cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCCATTTGCCGCGACGTCTTC	0.517													6	60					0	0	0	0	A	2312716	G	A	2312716	3	1	290	1	0	0	0	0	1	0	0	0	15925	1087	38	1	1440	1	TGM3	20	2312716	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	1026731	2312716	60712804	309	51545											
TGM3	7053	broad.mit.edu	37	chr20	2321165	2321165	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcaccaagcaactgctcgccGacttctcctgcaacaagttc	10	8	7	16	2	1	0	0	0	1	0	4	1	1	0	3	0	5	5	3	0	4	2	rs140423684		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:2321165G>C	ENST00000381458.5	+	13	2083	c.2020G>C	c.(2020-2022)Gac>Cac	p.D674H		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	674				D -> G (in Ref. 2; BAF84040).	cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACTGCTCGCCGACTTCTCCTG	0.602													29	72					0	0	0	0	C	2321165	G	C	2321165	3	2	290	1	0	0	0	0	1	0	0	0	15925	1058	37	3	2070	3	TGM3	20	2321165	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	8449	2321165	60704355	310	51546											
IDH3B	3420	broad.mit.edu	37	chr20	2640691	2640691	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccgtctcaaagactgcGtattctgcactatagctctc	9	12	6	14	2	4	1	2	0	3	1	6	1	4	1	1	0	3	3	1	0	4	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:2640691G>A	ENST00000380843.4	-	9	930	c.900C>T	c.(898-900)taC>taT	p.Y300Y	IDH3B_ENST00000380851.5_Silent_p.Y300Y|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	300					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CAAAGACTGCGTATTCTGCAC	0.532													28	109					0	0	0	0	A	2640691	G	A	2640691	2	1	290	1	0	0	0	0	0	0	0	1	7550	1140	40	1		1	IDH3B	20	2640691	Silent	SNP	G	TCGA-CV-7242-01A-11D-2012-08	319526	2640691	60384829	311	51547											
MAVS	57506	broad.mit.edu	37	chr20	3841990	3841990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctctagggacctcggacCgtcccccagacccactggag	7	6	11	17	2	1	1	0	0	1	1	4	4	3	4	6	3	0	0	6	3	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:3841990C>T	ENST00000428216.2	+	4	432	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	MAVS_ENST00000416600.2_5'UTR|MAVS_ENST00000358134.6_Intron	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	102					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GACCTCGGACCGTCCCCCAGA	0.597													22	64					0	0	0	0	T	3841990	C	T	3841990	3	4	290	1	0	0	0	0	1	0	0	0	9407	652	23	1	314	1	MAVS	20	3841990	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	1201299	3841990	59183530	312	51548											
PLCB1	23236	broad.mit.edu	37	chr20	8737765	8737765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagaaaatggggtgaatCacactacaaccctgacaccc	15	5	8	13	0	1	3	1	2	0	1	1	3	1	3	2	2	3	1	2	2	5	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:8737765C>A	ENST00000378641.3	+	24	3071	c.2596C>A	c.(2596-2598)Cac>Aac	p.H866N	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.H866N|PLCB1_ENST00000338037.6_Missense_Mutation_p.H866N	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	866					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGGGGTGAATCACACTACAAC	0.498													24	34					1.85244e-09	4.09516e-09	1	0	A	8737765	C	A	8737765	3	1	290	1	0	0	0	0	1	0	0	0	12099	826	29	2	2690	2	PLCB1	20	8737765	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	4895775	8737765	54287755	313	51549											
GZF1	64412	broad.mit.edu	37	chr20	23345471	23345471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagtctcaggaggtggagGtgagcagtggctcccaagtt	9	8	16	8	0	1	2	1	1	1	1	3	4	2	4	1	5	1	3	1	5	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:23345471G>T	ENST00000338121.5	+	2	528	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L	GZF1_ENST00000377051.2_Missense_Mutation_p.V151L|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	151					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GGAGGTGGAGGTGAGCAGTGG	0.493													19	58					6.94344e-10	1.55341e-09	1	0	T	23345471	G	T	23345471	3	4	290	1	0	0	0	0	1	0	0	0	6964	1261	44	4	453	4	GZF1	20	23345471	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	14607706	23345471	39680049	314	51550											
CHD6	84181	broad.mit.edu	37	chr20	40118659	40118659	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcagccaaaatacagtttTttctgcagagagtgagaaat	15	11	8	7	0	2	2	1	1	1	2	2	4	2	2	1	0	3	2	1	0	4	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:40118659T>C	ENST00000373233.3	-	12	1616	c.1439A>G	c.(1438-1440)aAa>aGa	p.K480R	CHD6_ENST00000309279.7_Missense_Mutation_p.K480R	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	480	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AATACAGTTTTTTCTGCAGAG	0.378													51	112					0	0	0	0	C	40118659	T	C	40118659	3	2	290	1	0	0	0	0	1	0	0	0	3358	1841	64	5	6812	5	CHD6	20	40118659	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	16773188	40118659	22906861	315	51551											
NFATC2	4773	broad.mit.edu	37	chr20	50140492	50140492	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttggccgcgctcagaaaCttctgcggccctaccctatc	6	9	10	16	3	2	1	1	0	1	1	3	1	2	1	3	3	3	2	3	3	3	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:50140492C>G	ENST00000371564.3	-	2	507	c.288G>C	c.(286-288)aaG>aaC	p.K96N	NFATC2_ENST00000414705.1_Missense_Mutation_p.K76N|NFATC2_ENST00000396009.3_Missense_Mutation_p.K96N	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	96					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGCTCAGAAACTTCTGCGGCC	0.657													13	57					0	0	0	0	G	50140492	C	G	50140492	3	3	290	1	0	0	0	0	1	0	0	0	10432	564	20	4	2573	4	NFATC2	20	50140492	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	10021833	50140492	12885028	316	51552											
SPO11	23626	broad.mit.edu	37	chr20	55909825	55909825	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttatctacatcaaaaggttTaattgctggcaacttaagat	14	14	7	6	0	2	1	1	0	1	1	2	1	2	1	0	2	3	4	0	2	7	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:55909825T>C	ENST00000371263.3	+	6	639	c.530T>C	c.(529-531)tTa>tCa	p.L177S	SPO11_ENST00000371260.4_Missense_Mutation_p.L139S|SPO11_ENST00000345868.4_Missense_Mutation_p.L139S	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	177					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TCAAAAGGTTTAATTGCTGGC	0.363								Editing and processing nucleases					8	23					0	0	0	0	C	55909825	T	C	55909825	3	2	290	1	0	0	0	0	1	0	0	0	15167	1764	61	5	552	5	SPO11	20	55909825	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	5769333	55909825	7115695	317	51553											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768471	31768471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctacctgcactacccaGcctcctcctgtggcttttcc	4	12	8	17	0	0	0	0	0	0	0	3	0	3	0	6	2	4	3	6	2	2	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr21:31768471G>A	ENST00000355459.2	+	1	80	c.67G>A	c.(67-69)Gcc>Acc	p.A23T		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	23						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCACTACCCAGCCTCCTCCTG	0.567													60	95					0	0	0	0	A	31768471	G	A	31768471	3	1	290	1	0	0	0	0	1	0	0	0	8574	971	34	4	69	4	KRTAP13-1	21	31768471	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08		31768471	16361424	318	51554											
SON	6651	broad.mit.edu	37	chr21	34927512	34927512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacccctagccgtcggaGccgcaccccaagccgccgga	7	2	11	21	6	0	0	0	0	0	0	1	2	0	2	9	2	3	2	9	2	2	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr21:34927512G>A	ENST00000356577.4	+	3	6450	c.5975G>A	c.(5974-5976)aGc>aAc	p.S1992N	SON_ENST00000290239.6_Missense_Mutation_p.S1992N|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.S1992N|SON_ENST00000381679.4_Missense_Mutation_p.S1992N	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1992	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						agccgtcggagccgcacccca	0.672													16	39					0	0	0	0	A	34927512	G	A	34927512	3	1	290	1	0	0	0	0	1	0	0	0	15014	971	34	4	5985	4	SON	21	34927512	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	3159041	34927512	13202383	319	51555											
XPNPEP3	63929	broad.mit.edu	37	chr22	41265101	41265101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcccagcccctttacacacCcacacctcctcagaccaggt	10	6	5	20	0	1	1	1	0	0	1	2	1	2	1	7	1	3	0	7	1	1	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr22:41265101C>T	ENST00000357137.4	+	2	247	c.163C>T	c.(163-165)Cca>Tca	p.P55S	XPNPEP3_ENST00000541156.1_Missense_Mutation_p.P55S|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.P55S|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P32S	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	55					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CTTTACACACCCACACCTCCT	0.488													27	92					0	0	0	0	T	41265101	C	T	41265101	3	4	290	1	0	0	0	0	1	0	0	0	17540	623	22	4	169	4	XPNPEP3	22	41265101	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08		41265101	10039465	320	51556											
RBX1	9978	broad.mit.edu	37	chr22	41349628	41349628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatctgcaggaaccacattAtggatctttgtaagtaattg	12	13	8	8	0	2	0	0	0	2	0	2	2	2	2	2	2	2	3	2	2	4	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr22:41349628A>G	ENST00000216225.8	+	2	188	c.148A>G	c.(148-150)Atg>Gtg	p.M50V	XPNPEP3_ENST00000544094.1_3'UTR	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	50					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						GAACCACATTATGGATCTTTG	0.453													22	86					0	0	0	0	G	41349628	A	G	41349628	3	3	290	1	0	0	0	0	1	0	0	0	13247	449	16	5	154	5	RBX1	22	41349628	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	84527	41349628	9954938	321	51557											
UPK3A	7380	broad.mit.edu	37	chr22	45689060	45689060	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgggctgcatcccaccacAgtcaccccatactcgacgat	10	6	7	18	3	1	0	1	0	0	0	3	2	2	0	5	1	2	2	5	1	1	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr22:45689060A>T	ENST00000216211.4	+	5	603		c.e5-1		UPK3A_ENST00000396082.2_Splice_Site	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A						epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATCCCACCACAGTCACCCCAT	0.657													11	34					0	0	0	0	T	45689060	A	T	45689060	5	4	290	1	0	0	0	0	0	0	1	0	17106	202	7	5	588	5	UPK3A	22	45689060	Splice_Site	SNP	A	TCGA-CV-7242-01A-11D-2012-08	4339432	45689060	5615506	322	51558											
MXRA5	25878	broad.mit.edu	37	chrX	3229299	3229299	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tagtctccttcctccctcatCcccacttcgttaaagtagag	8	13	5	15	1	2	1	1	0	1	1	7	1	5	1	5	0	0	2	5	0	4	5			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:3229299C>T	ENST00000217939.6	-	7	7099	c.6945G>A	c.(6943-6945)ggG>ggA	p.G2315G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2315	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTCCCTCATCCCCACTTCGT	0.547													46	87					0	0	0	0	T	3229299	C	T	3229299	2	4	290	1	0	0	0	0	0	0	0	1	10073	842	30	2		2	MXRA5	23	3229299	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08		3229299	152041261	323	51559											
FRMPD4	9758	broad.mit.edu	37	chrX	12734346	12734346	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagacagcaccatgtgtccaAaagagcaccggcacttgtac	13	6	9	13	1	0	2	0	0	0	2	1	2	1	2	3	1	3	4	3	1	3	2			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:12734346A>G	ENST00000380682.1	+	15	2274	c.1768A>G	c.(1768-1770)Aaa>Gaa	p.K590E		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	590					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CATGTGTCCAAAAGAGCACCG	0.507													30	67					0	0	0	0	G	12734346	A	G	12734346	3	3	290	1	0	0	0	0	1	0	0	0	6107	15	1	5	1826	5	FRMPD4	23	12734346	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	9505047	12734346	142536214	324	51560											
TLR8	51311	broad.mit.edu	37	chrX	12939289	12939289	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgatagcctatctgacttTacatcttcccttcggacact	9	14	5	13	1	2	2	0	2	2	0	4	3	3	3	2	1	2	0	2	1	3	6			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:12939289T>C	ENST00000218032.6	+	2	2217	c.2130T>C	c.(2128-2130)ttT>ttC	p.F710F	TLR8_ENST00000311912.5_Silent_p.F728F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	710					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TATCTGACTTTACATCTTCCC	0.428													40	98					0	0	0	0	C	12939289	T	C	12939289	2	2	290	1	0	0	0	0	0	0	0	1	16051	1751	61	5		5	TLR8	23	12939289	Silent	SNP	T	TCGA-CV-7242-01A-11D-2012-08	204943	12939289	142331271	325	51561											
MAGEB6	158809	broad.mit.edu	37	chrX	26212351	26212351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatatgatgtggctgccaacGgccaagatgagaaaagtcca	15	7	11	8	1	0	3	0	2	0	2	1	4	1	3	3	2	2	1	3	2	6	1			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:26212351G>T	ENST00000379034.1	+	2	537	c.388G>T	c.(388-390)Ggc>Tgc	p.G130C		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	130	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGCTGCCAACGGCCAAGATGA	0.557													36	51					3.03874e-20	7.86063e-20	1	0	T	26212351	G	T	26212351	3	4	290	1	0	0	0	0	1	0	0	0	9248	1116	39	3	390	3	MAGEB6	23	26212351	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	13273062	26212351	129058209	326	51562											
FAM47B	170062	broad.mit.edu	37	chrX	34960984	34960984	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacaggaccggccaaggtcCcaaggcatggactccaagcc	11	3	11	16	1	0	0	0	0	0	0	2	2	2	2	6	5	1	1	6	5	3	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:34960984C>A	ENST00000329357.5	+	1	72	c.36C>A	c.(34-36)tcC>tcA	p.S12S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	12										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGCCAAGGTCCCAAGGCATGG	0.632													7	15					0.000157383	0.00030534	1	0	A	34960984	C	A	34960984	2	1	290	1	0	0	0	0	0	0	0	1	5617	610	22	4		4	FAM47B	23	34960984	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	8748633	34960984	120309576	327	51563											
DGKK	139189	broad.mit.edu	37	chrX	50119165	50119165	+	RNA	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctcaggtcattaagtCtgtaataaagcaaggacaga	14	11	9	7	0	4	1	2	0	2	1	4	2	4	2	0	2	2	3	0	2	5	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:50119165C>A	ENST00000376025.2	-	0	3331							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTCATTAAGTCTGTAATAAAG	0.478													13	24					4.7546e-09	1.0297e-08	1	0	A	50119165	C	A	50119165	1	1	290	0	1	0	0	0	0	0	0	0	4509	927	32	2		2	DGKK	23	50119165	RNA	SNP	C	TCGA-CV-7242-01A-11D-2012-08	15158181	50119165	105151395	328	51564											
AR	367	broad.mit.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	8	6	13	14	1	0	0	0	0	0	0	0	0	0	0	1	0	11	11	1	0	0	1	rs71905623		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome				4	37					0	0	0	0	T	66765161	A	T	66765161	3	4	290	1	0	0	0	0	1	0	0	0	838	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-CV-7242-01A-11D-2012-08	16645996	66765161	88505399	329	51565											
ITM2A	9452	broad.mit.edu	37	chrX	78616913	78616913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaaggttactaacatcacGaatttcctccacagcaacta	14	9	5	13	1	1	0	1	0	0	0	3	1	3	0	3	1	4	2	3	1	6	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:78616913G>A	ENST00000434584.2	-	4	820	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	ITM2A_ENST00000373298.2_Missense_Mutation_p.R206C|ITM2A_ENST00000469541.1_5'UTR	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	206	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CTAACATCACGAATTTCCTCC	0.398													22	41					0	0	0	0	A	78616913	G	A	78616913	3	1	290	1	0	0	0	0	1	0	0	0	7965	1058	37	1	183	1	ITM2A	23	78616913	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	11851752	78616913	76653647	330	51566											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177112	89177112	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcggacggcccggctGagacccaaagcccggtggaa	8	3	15	15	5	0	1	0	1	0	1	0	4	0	3	4	5	2	2	4	5	2	0			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:89177112G>T	ENST00000561129.2	+	1	158	c.28G>T	c.(28-30)Gag>Tag	p.E10*	TGIF2LX_ENST00000283891.5_Nonsense_Mutation_p.E10*			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	10						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CGGCCCGGCTGAGACCCAAAG	0.522													26	47					4.87955e-14	1.16143e-13	1	0	T	89177112	G	T	89177112	4	4	290	1	0	0	0	0	0	1	0	0	15921	1291	45	2	30	2	TGIF2LX	23	89177112	Nonsense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	10560199	89177112	66093448	331	51567											
DOCK11	139818	broad.mit.edu	37	chrX	117817178	117817178	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatctgacattatccatgagCaggcaagtattagggtgact	12	12	10	7	0	1	3	0	3	1	0	2	3	2	3	1	2	1	3	1	2	5	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:117817178C>T	ENST00000276204.6	+	52	6174	c.6100C>T	c.(6100-6102)Cag>Tag	p.Q2034*	DOCK11_ENST00000276202.7_Nonsense_Mutation_p.Q2034*			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2034					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATCCATGAGCAGGCAAGTAT	0.358													29	43					0	0	0	0	T	117817178	C	T	117817178	4	4	290	1	0	0	0	0	0	1	0	0	4722	711	25	4	6306	4	DOCK11	23	117817178	Nonsense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	28640066	117817178	37453382	332	51568											
CUL4B	8450	broad.mit.edu	37	chrX	119677600	119677600	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgggtggtctgatctaagTaagtaataagtctgtctgct	10	14	11	6	0	4	1	0	1	4	0	4	1	4	1	0	2	1	3	0	2	4	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:119677600T>G	ENST00000371322.5	-	8	1299	c.1238A>C	c.(1237-1239)tAc>tCc	p.Y413S	CUL4B_ENST00000404115.3_Missense_Mutation_p.Y431S|CUL4B_ENST00000336592.6_Missense_Mutation_p.Y418S	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	431					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGATCTAAGTAAGTAATAAG	0.348													24	42					0	0	0	0	G	119677600	T	G	119677600	3	3	290	1	0	0	0	0	1	0	0	0	4090	1638	57	5	1501	5	CUL4B	23	119677600	Missense_Mutation	SNP	T	TCGA-CV-7242-01A-11D-2012-08	1860422	119677600	35592960	333	51569											
FRMD7	90167	broad.mit.edu	37	chrX	131212467	131212467	+	Silent	SNP	A	A	G																															ctttcagctggcttcattgcAgtgggctctacatagctatg																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:131212467A>G	ENST00000298542.4	-	12	1753	c.1578T>C	c.(1576-1578)acT>acC	p.T526T	FRMD7_ENST00000464296.1_Silent_p.T511T|FRMD7_ENST00000370879.1_Silent_p.T406T	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	526					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GCTTCATTGCAGTGGGCTCTA	0.493													68	129					0	0	0	0	G	131212467	A	G	131212467	2	3	290	1	0	0	0	0	0	0	0	1	6103	175	7	5		5	FRMD7	23	131212467	Silent	SNP	A	TCGA-CV-7242-01A-11D-2012-08	11534867	131212467	24058093	334	51570	406	2									
FRMD7	90167	broad.mit.edu	37	chrX	131212468	131212468	+	Missense_Mutation	SNP	G	G	T																															tttcagctggcttcattgcaGtgggctctacatagctatgt																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:131212468G>T	ENST00000298542.4	-	12	1752	c.1577C>A	c.(1576-1578)aCt>aAt	p.T526N	FRMD7_ENST00000464296.1_Missense_Mutation_p.T511N|FRMD7_ENST00000370879.1_Missense_Mutation_p.T406N	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	526					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CTTCATTGCAGTGGGCTCTAC	0.498													70	128					7.07328e-35	1.90927e-34	1	0	T	131212468	G	T	131212468	3	4	290	1	0	0	0	0	1	0	0	0	6103	1029	36	4	571	4	FRMD7	23	131212468	Missense_Mutation	SNP	G	TCGA-CV-7242-01A-11D-2012-08	1	131212468	24058092	335	51571	406	2									
MAGEC1	9947	broad.mit.edu	37	chrX	140995218	140995218	+	Silent	SNP	C	C	A																															atgcactcccaatctcctctCcagagtcctgagagtgctcc																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:140995218C>A	ENST00000285879.4	+	4	2314	c.2028C>A	c.(2026-2028)ctC>ctA	p.L676L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	676							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AATCTCCTCTCCAGAGTCCTG	0.567										HNSCC(15;0.026)			51	98					4.01344e-20	1.03461e-19	1	0	A	140995218	C	A	140995218	2	1	290	1	0	0	0	0	0	0	0	1	9249	842	30	2		2	MAGEC1	23	140995218	Silent	SNP	C	TCGA-CV-7242-01A-11D-2012-08	9782750	140995218	14275342	336	51572	407	2									
MAGEC1	9947	broad.mit.edu	37	chrX	140995219	140995219	+	Missense_Mutation	SNP	C	C	A																															tgcactcccaatctcctctcCagagtcctgagagtgctcct																										TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:140995219C>A	ENST00000285879.4	+	4	2315	c.2029C>A	c.(2029-2031)Cag>Aag	p.Q677K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	677							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTCCTCTCCAGAGTCCTGA	0.562										HNSCC(15;0.026)			53	96					6.08268e-21	1.57895e-20	1	0	A	140995219	C	A	140995219	3	1	290	1	0	0	0	0	1	0	0	0	9249	595	21	4	2035	4	MAGEC1	23	140995219	Missense_Mutation	SNP	C	TCGA-CV-7242-01A-11D-2012-08	1	140995219	14275341	337	51573	407	2									
TKTL1	8277	broad.mit.edu	37	chrX	153533683	153533683	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcatgtagcagttcttcTgagatcatgtctgtgctgtt	8	16	9	8	0	5	1	2	1	3	1	5	2	5	1	0	0	2	5	0	0	1	4			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:153533683T>A	ENST00000369915.3	+	2	351	c.162T>A	c.(160-162)tcT>tcA	p.S54S	TKTL1_ENST00000369912.2_5'UTR|TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	54					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGTTCTTCTGAGATCATGT	0.498													21	43					0	0	0	0	A	153533683	T	A	153533683	2	1	290	1	0	0	0	0	0	0	0	1	16029	1567	55	5		5	TKTL1	23	153533683	Silent	SNP	T	TCGA-CV-7242-01A-11D-2012-08	12538464	153533683	1736877	338	51574											
VPS13D	55187	broad.mit.edu	37	chr1	12428620	12428620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acacagatcagttacctcctCctttccgaattgacaacttt	11	13	4	13	1	1	2	1	1	0	1	4	3	4	2	4	0	2	1	4	0	3	4			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:12428620C>T	ENST00000358136.3	+	53	10676	c.10546C>T	c.(10546-10548)Cct>Tct	p.P3516S	VPS13D_ENST00000356315.4_Missense_Mutation_p.P3491S|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3515					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTTACCTCCTCCTTTCCGAAT	0.463													38	76					0	0	0	0	T	12428620	C	T	12428620	3	4	291	1	0	0	0	0	1	0	0	0	17288	855	30	2	10752	2	VPS13D	1	12428620	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08		12428620	236822001	1	51575											
CKS1B	1163	broad.mit.edu	37	chr1	154947264	154947264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcggacaaatacgacgacGaggagtttgagtatcggtta	13	10	12	6	5	0	1	0	1	0	0	2	6	0	3	0	3	1	3	0	3	4	5			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:154947264G>A	ENST00000368436.1	+	1	106	c.43G>A	c.(43-45)Gag>Aag	p.E15K	CKS1B_ENST00000308987.5_Missense_Mutation_p.E15K|CKS1B_ENST00000368439.1_5'UTR			P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	15					cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATACGACGACGAGGAGTTTGA	0.547													6	34					0	0	0	0	A	154947264	G	A	154947264	3	1	291	1	0	0	0	0	1	0	0	0	3482	1059	37	1	45	1	CKS1B	1	154947264	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08	142518644	154947264	94303357	2	51576											
PAPPA2	60676	broad.mit.edu	37	chr1	176659381	176659381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtctttaaaggagtcaGtgaaagagaatcctgcaatg	14	10	10	7	0	2	2	1	1	1	1	3	4	3	3	2	1	1	1	2	1	5	2			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:176659381G>T	ENST00000367662.3	+	5	3410	c.2246G>T	c.(2245-2247)aGt>aTt	p.S749I	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S749I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	749	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AAAGGAGTCAGTGAAAGAGAA	0.547													19	147					5.03518e-11	4.33914e-10	1	0	T	176659381	G	T	176659381	3	4	291	1	0	0	0	0	1	0	0	0	11504	1029	36	4	2260	4	PAPPA2	1	176659381	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08	21712117	176659381	72591240	3	51577											
SOX11	6664	broad.mit.edu	37	chr2	5833121	5833121	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaagcgctggaaaatgCtgaaggacagcgagaagatc	14	5	15	7	2	0	3	0	1	0	2	1	6	0	5	0	3	3	3	0	3	5	0			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:5833121C>T	ENST00000322002.3	+	1	323	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	90					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CTGGAAAATGCTGAAGGACAG	0.587													15	48					0	0	0	0	T	5833121	C	T	5833121	2	4	291	1	0	0	0	0	0	0	0	1	15030	796	28	4		4	SOX11	2	5833121	Silent	SNP	C	TCGA-CV-7243-01A-11D-2012-08		5833121	237366252	4	51578											
ZNF512	84450	broad.mit.edu	37	chr2	27830785	27830785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagtcaaagagtgggggccGagttcagagacgttctgcca	11	7	15	8	2	3	3	2	0	1	3	3	5	3	3	2	2	1	2	2	2	1	2			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:27830785G>A	ENST00000355467.4	+	10	1093	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	ZNF512_ENST00000413371.2_Missense_Mutation_p.R260Q|ZNF512_ENST00000379717.1_Missense_Mutation_p.R336Q|ZNF512_ENST00000416005.2_Missense_Mutation_p.R308Q|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Missense_Mutation_p.R206Q			Q96ME7	ZN512_HUMAN	zinc finger protein 512	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGTGGGGGCCGAGTTCAGAGA	0.512													12	49					0	0	0	0	A	27830785	G	A	27830785	3	1	291	1	0	0	0	0	1	0	0	0	18051	1058	37	1	1048	1	ZNF512	2	27830785	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08	21997664	27830785	215368588	5	51579											
CCDC88A	55704	broad.mit.edu	37	chr2	55571557	55571557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagttctctttttctaattCatgtaatttatcagaacgag	12	18	5	6	1	4	1	2	0	2	1	5	2	4	1	0	0	1	2	0	0	5	9			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:55571557C>T	ENST00000436346.1	-	11	1976	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E379K|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E379K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E379K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	379					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTTCTAATTCATGTAATTTA	0.318													8	58					0	0	0	0	T	55571557	C	T	55571557	3	4	291	1	0	0	0	0	1	0	0	0	2890	835	29	2	4568	2	CCDC88A	2	55571557	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	27740772	55571557	187627816	6	51580											
OBSL1	23363	broad.mit.edu	37	chr2	220432935	220432935	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagccgctggtcctcaCggaaccaggccgtggggatg	7	5	16	13	3	1	0	1	0	0	0	2	2	2	2	4	5	3	3	4	5	1	0			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:220432935C>T	ENST00000289656.3	-	0	182				OBSL1_ENST00000265318.4_Missense_Mutation_p.R375H|OBSL1_ENST00000603926.1_Missense_Mutation_p.R375H|OBSL1_ENST00000404537.1_Missense_Mutation_p.R375H|OBSL1_ENST00000373876.1_Missense_Mutation_p.R375H|OBSL1_ENST00000373873.4_Missense_Mutation_p.R375H			O75147	OBSL1_HUMAN	obscurin-like 1						cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTGGTCCTCACGGAACCAGGC	0.637											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	31					0	0	0	0	T	220432935	C	T	220432935	1	4	291	1	0	0	0	0	0	0	0	0	10884	536	19	1		1	OBSL1	2	220432935	Translation_Start_Site	SNP	C	TCGA-CV-7243-01A-11D-2012-08	164861378	220432935	22766438	7	51581											
SLC6A6	6533	broad.mit.edu	37	chr3	14499524	14499524	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaaatgggacctcgctctCtgccttcttttagtctggct	5	15	9	12	1	3	1	0	1	3	0	5	2	3	2	2	2	1	2	2	2	2	3			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr3:14499524C>T	ENST00000454876.2	+	6	995	c.666C>T	c.(664-666)ctC>ctT	p.L222L	SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000360861.3_Silent_p.L222L			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	222					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						ACCTCGCTCTCTGCCTTCTTT	0.562													25	101					0	0	0	0	T	14499524	C	T	14499524	2	4	291	1	0	0	0	0	0	0	0	1	14776	900	32	2		2	SLC6A6	3	14499524	Silent	SNP	C	TCGA-CV-7243-01A-11D-2012-08		14499524	183522906	8	51582											
IL17RB	55540	broad.mit.edu	37	chr3	53883814	53883814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtaagctgggtactccGggcagatggtaagtttgcat	10	11	14	6	1	0	1	0	0	0	1	1	2	1	1	1	3	3	7	1	3	4	4	rs145364776	by1000genomes	TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr3:53883814G>A	ENST00000288167.3	+	3	227	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	73					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TGGGTACTCCGGGCAGATGGT	0.443													44	70					0	0	0	0	A	53883814	G	A	53883814	3	1	291	1	0	0	0	0	1	0	0	0	7693	1116	39	1	228	1	IL17RB	3	53883814	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08	39384290	53883814	144138616	9	51583											
OR5H15	403274	broad.mit.edu	37	chr3	97887689	97887689	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggtctgattgctgtcaTctggaaagaccctcaccttc	7	14	8	12	0	5	2	2	1	3	1	6	3	5	3	2	2	1	1	2	2	1	3			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr3:97887689T>C	ENST00000356526.2	+	1	146	c.146T>C	c.(145-147)aTc>aCc	p.I49T		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATTGCTGTCATCTGGAAAGAC	0.423													87	146					0	0	0	0	C	97887689	T	C	97887689	3	2	291	1	0	0	0	0	1	0	0	0	11232	1435	50	5	148	5	OR5H15	3	97887689	Missense_Mutation	SNP	T	TCGA-CV-7243-01A-11D-2012-08	44003875	97887689	100134741	10	51584											
UCHL1	7345	broad.mit.edu	37	chr4	41265298	41265298	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaacgtggatggccacctCtatgaacttggtatgtttta	11	13	9	8	1	1	1	0	1	1	0	1	2	1	2	2	3	3	2	2	3	6	5			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:41265298C>T	ENST00000284440.4	+	7	660	c.516C>T	c.(514-516)ctC>ctT	p.L172L	UCHL1_ENST00000503431.1_Silent_p.L172L|UCHL1_ENST00000508768.1_Silent_p.L156L|UCHL1_ENST00000512788.1_Silent_p.L172L	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	172					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						ATGGCCACCTCTATGAACTTG	0.343													12	90					0	0	0	0	T	41265298	C	T	41265298	2	4	291	1	0	0	0	0	0	0	0	1	17016	900	32	2		2	UCHL1	4	41265298	Silent	SNP	C	TCGA-CV-7243-01A-11D-2012-08		41265298	149888978	11	51585											
PCDH10	57575	broad.mit.edu	37	chr4	134072411	134072411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgagtgagggcgcggcGcccggcactgtggtggccct	3	6	20	12	5	0	2	0	2	0	0	0	2	0	2	2	6	0	1	2	6	0	0			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:134072411G>A	ENST00000264360.4	+	1	1942	c.1116G>A	c.(1114-1116)gcG>gcA	p.A372A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	372	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGGCGCGGCGCCCGGCACTG	0.617													13	95					0	0	0	0	A	134072411	G	A	134072411	2	1	291	1	0	0	0	0	0	0	0	1	11578	1074	38	1		1	PCDH10	4	134072411	Silent	SNP	G	TCGA-CV-7243-01A-11D-2012-08	92807113	134072411	57081865	12	51586											
CCRN4L	25819	broad.mit.edu	37	chr4	139965866	139965866	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggaagaaaggaaatgtctCatcctggaagaaatcctggc	14	8	12	7	0	1	2	1	0	1	2	4	5	3	5	2	4	0	0	2	4	5	0			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:139965866C>T	ENST00000280614.2	+	3	727	c.534C>T	c.(532-534)ctC>ctT	p.L178L	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	178					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					GGAAATGTCTCATCCTGGAAG	0.463													21	74					0	0	0	0	T	139965866	C	T	139965866	2	4	291	1	0	0	0	0	0	0	0	1	2980	813	29	2		2	CCRN4L	4	139965866	Silent	SNP	C	TCGA-CV-7243-01A-11D-2012-08	5893455	139965866	51188410	13	51587											
NR3C2	4306	broad.mit.edu	37	chr4	149356634	149356634	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatagtctttatcatccataAaggaaaaatacgagccatcc	17	10	5	9	1	2	0	1	0	1	0	4	2	4	1	3	1	2	0	3	1	8	5			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:149356634A>T	ENST00000355292.3	-	2	1741	c.1379T>A	c.(1378-1380)tTt>tAt	p.F460Y	NR3C2_ENST00000344721.4_Missense_Mutation_p.F460Y|NR3C2_ENST00000512865.1_Missense_Mutation_p.F460Y|NR3C2_ENST00000511528.1_Missense_Mutation_p.F460Y|NR3C2_ENST00000358102.3_Missense_Mutation_p.F460Y|NR3C2_ENST00000342437.4_Missense_Mutation_p.F460Y			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	460	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ATCATCCATAAAGGAAAAATA	0.418													10	52					0	0	0	0	T	149356634	A	T	149356634	3	4	291	1	0	0	0	0	1	0	0	0	10702	14	1	5	1607	5	NR3C2	4	149356634	Missense_Mutation	SNP	A	TCGA-CV-7243-01A-11D-2012-08	9390768	149356634	41797642	14	51588											
TRIML2	205860	broad.mit.edu	37	chr4	189012783	189012783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagaggggggaagaccCagagagtccactcggtcccc	9	7	13	12	1	1	3	1	0	0	3	4	5	3	4	4	4	0	0	4	4	1	2			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:189012783C>A	ENST00000512729.1	-	7	1282	c.908G>T	c.(907-909)tGg>tTg	p.W303L	TRIML2_ENST00000326754.3_Missense_Mutation_p.W328L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	303	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GGGGAAGACCCAGAGAGTCCA	0.552													35	124					8.4185e-14	7.39986e-13	1	0	A	189012783	C	A	189012783	3	1	291	1	0	0	0	0	1	0	0	0	16646	595	21	4	259	4	TRIML2	4	189012783	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	39656149	189012783	2141493	15	51589											
RASA1	5921	broad.mit.edu	37	chr5	86674234	86674234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccactaccctatttcGagccacaacacttgcaagca	13	8	6	14	1	0	1	0	1	0	0	1	2	0	1	3	0	6	2	3	0	5	4			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr5:86674234G>T	ENST00000456692.2	+	18	1950	c.1835G>T	c.(1834-1836)cGa>cTa	p.R612L	RASA1_ENST00000274376.6_Missense_Mutation_p.R789L|RASA1_ENST00000512763.1_Missense_Mutation_p.R622L|RASA1_ENST00000506290.1_Missense_Mutation_p.R623L	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	789	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	p.R789Q(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACCCTATTTCGAGCCACAACA	0.353													16	25					1.67942e-08	1.43321e-07	1	0	T	86674234	G	T	86674234	3	4	291	1	0	0	0	0	1	0	0	0	13142	1058	37	3	2448	3	RASA1	5	86674234	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08		86674234	94241026	16	51590											
PCDHA3	56145	broad.mit.edu	37	chr5	140182317	140182317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctacgtgtcggtacacgCggagagcggcaaggtgtacg	9	6	17	9	6	0	1	0	0	0	1	1	3	0	1	0	4	5	4	0	4	4	3			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr5:140182317C>T	ENST00000522353.2	+	1	1535	c.1535C>T	c.(1534-1536)gCg>gTg	p.A512V	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A512V|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTACACGCGGAGAGCGGC	0.706													7	124					0	0	0	0	T	140182317	C	T	140182317	3	4	291	1	0	0	0	0	1	0	0	0	11596	768	27	1	1537	1	PCDHA3	5	140182317	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	53508083	140182317	40732943	17	51591											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114379	27114379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcgaagatgtcgttgaCgaaggagttcatgattccca	10	11	12	8	4	1	3	1	2	0	1	4	6	2	4	1	1	0	3	1	1	2	4			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr6:27114379C>T	ENST00000396891.4	-	1	240	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.V67I	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	67					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ATGTCGTTGACGAAGGAGTTC	0.592													18	254					0	0	0	0	T	27114379	C	T	27114379	3	4	291	1	0	0	0	0	1	0	0	0	7200	536	19	1	185	1	HIST1H2BK	6	27114379	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08		27114379	144000688	18	51592											
HIVEP2	3097	broad.mit.edu	37	chr6	143092672	143092672	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccctggacggtgatacCgtggaggctgctgctcccga	5	9	13	14	3	1	1	0	1	1	0	3	4	2	3	3	4	3	3	3	4	1	1			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr6:143092672C>T	ENST00000367603.2	-	5	3946	c.3204G>A	c.(3202-3204)acG>acA	p.T1068T	HIVEP2_ENST00000367604.1_Silent_p.T1068T|HIVEP2_ENST00000012134.2_Silent_p.T1068T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1068					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACGGTGATACCGTGGAGGCTG	0.557													9	35					0	0	0	0	T	143092672	C	T	143092672	2	4	291	1	0	0	0	0	0	0	0	1	7237	639	23	1		1	HIVEP2	6	143092672	Silent	SNP	C	TCGA-CV-7243-01A-11D-2012-08	115978293	143092672	28022395	19	51593											
UTRN	7402	broad.mit.edu	37	chr6	144769778	144769778	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggatgtctcagattcctCagaaggaccttttggagact	9	12	12	8	0	2	3	2	0	1	3	4	6	3	5	2	4	0	0	2	4	1	3			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr6:144769778C>T	ENST00000367545.3	+	16	1945	c.1945C>T	c.(1945-1947)Cag>Tag	p.Q649*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	649	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCAGATTCCTCAGAAGGACCT	0.413													10	78					0	0	0	0	T	144769778	C	T	144769778	4	4	291	1	0	0	0	0	0	1	0	0	17199	827	29	2	2007	2	UTRN	6	144769778	Nonsense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	1677106	144769778	26345289	20	51594											
STYXL1	51657	broad.mit.edu	37	chr7	75634686	75634686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgaagaccttccctggcaCgatttcaatggggtatggct	10	10	11	10	2	1	1	1	0	0	1	2	3	2	1	2	4	1	3	2	4	4	3	rs147059565		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr7:75634686C>T	ENST00000451157.1	-	6	659	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	STYXL1_ENST00000248600.1_Missense_Mutation_p.V164M|STYXL1_ENST00000359697.3_Missense_Mutation_p.V164M|STYXL1_ENST00000340062.5_Missense_Mutation_p.V68M|STYXL1_ENST00000431581.1_Missense_Mutation_p.V164M|STYXL1_ENST00000360591.3_3'UTR			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	164	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	p.V164M(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TTCCCTGGCACGATTTCAATG	0.478													19	49					0	0	0	0	T	75634686	C	T	75634686	3	4	291	1	0	0	0	0	1	0	0	0	15451	536	19	1	467	1	STYXL1	7	75634686	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08		75634686	83503977	21	51595											
PCLO	27445	broad.mit.edu	37	chr7	82584839	82584839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctcgaagttcatctttGtctttctttgattttttact	6	22	6	7	1	4	2	1	2	3	0	5	3	4	2	0	0	2	2	0	0	2	7			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr7:82584839G>T	ENST00000423517.2	-	5	5767	c.5430C>A	c.(5428-5430)gaC>gaA	p.D1810E	PCLO_ENST00000333891.8_Missense_Mutation_p.D1810E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1741					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTCATCTTTGTCTTTCTTTG	0.393													32	145					5.60225e-13	4.87562e-12	1	0	T	82584839	G	T	82584839	3	4	291	1	0	0	0	0	1	0	0	0	11654	1368	48	4	10099	4	PCLO	7	82584839	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08	6950153	82584839	76553824	22	51596											
DPP6	1804	broad.mit.edu	37	chr7	154681011	154681011	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagcccatcgagtctccgcGctggaagaacagcagttcct	9	8	11	13	3	1	1	0	0	1	1	4	3	2	2	3	1	3	4	3	1	3	2			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr7:154681011G>A	ENST00000404039.1	+	24	2729	c.2142G>A	c.(2140-2142)gcG>gcA	p.A714A	DPP6_ENST00000427557.1_Silent_p.A671A|DPP6_ENST00000377770.3_Silent_p.A778A|DPP6_ENST00000332007.3_Silent_p.A716A	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	778					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAGTCTCCGCGCTGGAAGAAC	0.537													5	17					0	0	0	0	A	154681011	G	A	154681011	2	1	291	1	0	0	0	0	0	0	0	1	4766	1074	38	1		1	DPP6	7	154681011	Silent	SNP	G	TCGA-CV-7243-01A-11D-2012-08	72096172	154681011	4457652	23	51597											
IKBKB	3551	broad.mit.edu	37	chr8	42175203	42175203	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccacacattggacatggAtcttgtttttctctttgaca	8	15	9	9	0	2	1	0	1	2	0	3	3	2	3	1	3	0	1	1	3	0	5			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr8:42175203A>T	ENST00000520810.1	+	12	1340	c.1154A>T	c.(1153-1155)gAt>gTt	p.D385V	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.D383V|IKBKB_ENST00000379708.3_Missense_Mutation_p.D162V|IKBKB_ENST00000416505.2_Missense_Mutation_p.D326V	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	385					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TTGGACATGGATCTTGTTTTT	0.413													13	49					0	0	0	0	T	42175203	A	T	42175203	3	4	291	1	0	0	0	0	1	0	0	0	7664	333	12	5	1196	5	IKBKB	8	42175203	Missense_Mutation	SNP	A	TCGA-CV-7243-01A-11D-2012-08		42175203	104188819	24	51598											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	8	6	10	17	3	2	1	2	1	0	0	4	1	3	1	3	1	4	4	3	1	0	0	rs121913387		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	7					0	0	0	0	A	21971186	G	A	21971186	4	1	291	1	0	0	0	0	0	1	0	0	3190	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08		21971186	119242245	25	51599											
SIRT1	23411	broad.mit.edu	37	chr10	69644867	69644869	+	In_Frame_Del	DEL	GAG	GAG	-																															aagacgacgacgacgagggcGaggaggaggaagaggcggcg																										TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr10:69644867_69644869delGAG	ENST00000212015.6	+	1	441_443	c.388_390delGAG	c.(388-390)del	p.E134del		NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	134	Interaction with HIST1H1E.|Poly-Glu.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						cgacgagggcgaggaggaggaag	0.709													2	4	---	---	---	---					-	69644869	GAG	-	69644867	7	5	291	1	0	1	0	1	0	0	0	0	14425	1059	37	0	390	0	SIRT1	10	69644867	In_Frame_Del	DEL	GAG	TCGA-CV-7243-01A-11D-2012-08		69644867	65889880	26	51600											
MGMT	4255	broad.mit.edu	37	chr10	131565233	131565233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagggagcgggagctacctCgggctccccgcctgctggcc	5	5	15	16	3	0	0	0	0	0	0	2	2	1	2	5	4	4	3	5	4	2	1			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr10:131565233C>T	ENST00000306010.7	+	5	721	c.689C>T	c.(688-690)tCg>tTg	p.S230L		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	230										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GGAGCTACCTCGGGCTCCCCG	0.632								Direct reversal of damage					6	26					0	0	0	0	T	131565233	C	T	131565233	3	4	291	1	0	0	0	0	1	0	0	0	9626	893	31	1	707	1	MGMT	10	131565233	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	61920366	131565233	3969514	27	51601											
OR8J3	81168	broad.mit.edu	37	chr11	55904668	55904671	+	Frame_Shift_Del	DEL	TGAT	TGAT	-																															gtgcaatatcacagtaaaaaTgattgattatattagaagag																										TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:55904668_55904671delTGAT	ENST00000301529.1	-	1	523_526	c.524_527delATCA	c.(523-528)atfs	p.NH175fs		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACAGTAAAAATGATTGATTATATT	0.358													11	106	---	---	---	---					-	55904671	TGAT	-	55904668	7	5	291	1	0	1	0	1	0	0	0	0	11313	1464	51	0	422	0	OR8J3	11	55904668	Frame_Shift_Del	DEL	TGAT	TCGA-CV-7243-01A-11D-2012-08		55904668	79101848	28	51602											
OR5AR1	219493	broad.mit.edu	37	chr11	56431686	56431686	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggttccaatatcatcaaTcatttcttctgcgaaatccc	10	15	5	11	1	5	0	3	0	2	0	7	1	7	0	2	1	1	1	2	1	4	4			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:56431686T>G	ENST00000302969.2	+	1	549	c.525T>G	c.(523-525)aaT>aaG	p.N175K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ATATCATCAATCATTTCTTCT	0.483													39	246					0	0	0	0	G	56431686	T	G	56431686	3	3	291	1	0	0	0	0	1	0	0	0	11216	1432	50	5	527	5	OR5AR1	11	56431686	Missense_Mutation	SNP	T	TCGA-CV-7243-01A-11D-2012-08	527018	56431686	78574830	29	51603											
OR6Q1	219952	broad.mit.edu	37	chr11	57798843	57798843	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccactatggggcttttgTgtcctggggcacctgcatcc	4	13	11	13	0	1	0	0	0	1	0	4	0	3	0	4	4	1	3	4	4	1	3			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:57798843T>G	ENST00000302622.3	+	1	442	c.419T>G	c.(418-420)gTg>gGg	p.V140G	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GGGGCTTTTGTGTCCTGGGGC	0.507													20	124					0	0	0	0	G	57798843	T	G	57798843	3	3	291	1	0	0	0	0	1	0	0	0	11279	1696	59	5	421	5	OR6Q1	11	57798843	Missense_Mutation	SNP	T	TCGA-CV-7243-01A-11D-2012-08	1367157	57798843	77207673	30	51604											
ARHGEF12	23365	broad.mit.edu	37	chr11	120348886	120348886	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagatttgggattagaatCtaccttaatatcgtcaaaac	15	12	7	7	1	2	2	1	0	1	2	3	4	2	3	1	1	2	0	1	1	7	5			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:120348886C>G	ENST00000397843.2	+	37	3720	c.3554C>G	c.(3553-3555)tCt>tGt	p.S1185C	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.S1082C|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.S1166C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1185					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGATTAGAATCTACCTTAATA	0.383			T	MLL	AML								8	42					0	0	0	0	G	120348886	C	G	120348886	3	3	291	1	0	0	0	0	1	0	0	0	899	913	32	2	3700	2	ARHGEF12	11	120348886	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	62550043	120348886	14657630	31	51605											
GLS2	27165	broad.mit.edu	37	chr12	56866515	56866515	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactataggcagcaaataaCaggttgaccacagtcttgtt	13	10	8	10	0	1	1	0	1	1	0	1	1	1	1	2	2	2	4	2	2	4	6			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:56866515C>G	ENST00000311966.4	-	15	1748	c.1470G>C	c.(1468-1470)ctG>ctC	p.L490L		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	490					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGCAAATAACAGGTTGACCA	0.438													3	84					0	0	0	0	G	56866515	C	G	56866515	2	3	291	1	0	0	0	0	0	0	0	1	6515	465	17	4		4	GLS2	12	56866515	Silent	SNP	C	TCGA-CV-7243-01A-11D-2012-08		56866515	76985380	32	51606											
TPH2	121278	broad.mit.edu	37	chr12	72335511	72335511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaagcactgaggctctttCaggtgaatgtgaaatatcat	14	12	9	6	0	3	3	2	3	1	0	3	3	3	3	0	2	1	2	0	2	5	3			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:72335511C>G	ENST00000333850.3	+	2	394	c.253C>G	c.(253-255)Cag>Gag	p.Q85E	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	85	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GAGGCTCTTTCAGGTGAATGT	0.398													13	76					0	0	0	0	G	72335511	C	G	72335511	3	3	291	1	0	0	0	0	1	0	0	0	16497	827	29	2	259	2	TPH2	12	72335511	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	15468996	72335511	61516384	33	51607											
EEA1	8411	broad.mit.edu	37	chr12	93205154	93205158	+	Frame_Shift_Del	DEL	CTTGT	CTTGT	-																															agctgactgcaatgttcttgCttgtcttgtaactttgcagt																										TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:93205154_93205158delCTTGT	ENST00000322349.8	-	17	2360_2364	c.2096_2100delACAAG	c.(2095-2100)gfs	p.DK699fs		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	699	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AATGTTCTTGCTTGTCTTGTAACTT	0.337													7	38	---	---	---	---					-	93205158	CTTGT	-	93205154	7	5	291	1	0	1	0	1	0	0	0	0	4957	796	28	0	2187	0	EEA1	12	93205154	Frame_Shift_Del	DEL	CTTGT	TCGA-CV-7243-01A-11D-2012-08	20869643	93205154	40646741	34	51608											
STAB2	55576	broad.mit.edu	37	chr12	104069765	104069765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttctgagatggacccttGcacaggactaactccaggag	10	9	12	10	0	1	1	0	1	1	1	2	5	2	4	2	3	2	2	2	3	1	3			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:104069765G>T	ENST00000388887.2	+	24	2816	c.2612G>T	c.(2611-2613)tGc>tTc	p.C871F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	871	EGF-like 8.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGGACCCTTGCACAGGACTA	0.438													9	54					7.48243e-07	6.32409e-06	1	0	T	104069765	G	T	104069765	3	4	291	1	0	0	0	0	1	0	0	0	15328	1319	46	4	2706	4	STAB2	12	104069765	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08	10864611	104069765	29782130	35	51609											
APPL2	55198	broad.mit.edu	37	chr12	105589401	105589401	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctcagcctggaggattaTtcccctgaaacaaaagtgtc	11	10	9	11	0	1	1	1	1	1	0	4	3	2	3	3	2	2	1	3	2	4	2			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:105589401T>C	ENST00000258530.3	-	12	1282	c.1057A>G	c.(1057-1059)Ata>Gta	p.I353V	APPL2_ENST00000539978.2_Missense_Mutation_p.I310V|APPL2_ENST00000551662.1_Missense_Mutation_p.I359V	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	353	PH.|Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGGAGGATTATTCCCCTGAAA	0.408													15	59					0	0	0	0	C	105589401	T	C	105589401	3	2	291	1	0	0	0	0	1	0	0	0	820	1493	52	5	977	5	APPL2	12	105589401	Missense_Mutation	SNP	T	TCGA-CV-7243-01A-11D-2012-08	1519636	105589401	28262494	36	51610											
TRPV4	59341	broad.mit.edu	37	chr12	110236702	110236702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttggtgcaggcagccagcGacaggggcagctcccctgcg	6	5	17	13	2	0	0	0	0	0	0	1	1	1	0	3	5	5	5	3	5	0	1			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:110236702G>A	ENST00000418703.2	-	5	963	c.869C>T	c.(868-870)tCg>tTg	p.S290L	TRPV4_ENST00000261740.2_Missense_Mutation_p.S290L|TRPV4_ENST00000544971.1_Missense_Mutation_p.S243L|TRPV4_ENST00000346520.2_Missense_Mutation_p.S290L|TRPV4_ENST00000537083.1_Missense_Mutation_p.S290L|TRPV4_ENST00000392719.2_Missense_Mutation_p.S243L|TRPV4_ENST00000536838.1_Missense_Mutation_p.S256L|TRPV4_ENST00000541794.1_Missense_Mutation_p.S243L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	290					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGCAGCCAGCGACAGGGGCAG	0.677													13	58					0	0	0	0	A	110236702	G	A	110236702	3	1	291	1	0	0	0	0	1	0	0	0	16693	1059	37	1	1790	1	TRPV4	12	110236702	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08	4647301	110236702	23615193	37	51611											
GCN1L1	10985	broad.mit.edu	37	chr12	120582810	120582810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcaagtcctcaaagcacGactcccccatgcccttcacc	10	6	6	19	1	2	0	2	0	0	0	4	1	4	0	5	0	3	3	5	0	2	1			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:120582810G>A	ENST00000300648.6	-	40	5084	c.5072C>T	c.(5071-5073)tCg>tTg	p.S1691L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1691					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCAAAGCACGACTCCCCCAT	0.592													10	91					0	0	0	0	A	120582810	G	A	120582810	3	1	291	1	0	0	0	0	1	0	0	0	6348	1059	37	1	3019	1	GCN1L1	12	120582810	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08	10346108	120582810	13269085	38	51612											
RSRC2	65117	broad.mit.edu	37	chr12	123001845	123001845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcttgagcgggaacgagaCctgatccgccgttttctttc	7	12	11	11	4	2	3	0	2	2	1	4	6	3	4	3	1	2	1	3	1	1	4			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:123001845C>A	ENST00000331738.7	-	5	676	c.531G>T	c.(529-531)agG>agT	p.R177S	RSRC2_ENST00000354654.2_Missense_Mutation_p.R129S	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	177	Ser-rich.									breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GGGAACGAGACCTGATCCGCC	0.493													23	123					3.5997e-14	3.1961e-13	1	0	A	123001845	C	A	123001845	3	1	291	1	0	0	0	0	1	0	0	0	13800	506	18	4	797	4	RSRC2	12	123001845	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	2419035	123001845	10850050	39	51613											
TM9SF2	9375	broad.mit.edu	37	chr13	100206567	100206570	+	Frame_Shift_Del	DEL	CACC	CACC	-																															ttttactgaaggccattgaaCacccagttcgaaccaatcag																										TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr13:100206567_100206570delCACC	ENST00000376387.4	+	14	1688_1691	c.1498_1501delCACC	c.(1498-1503)cafs	p.HP500fs		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	500					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GGCCATTGAACACCCAGTTCGAAC	0.417													23	94	---	---	---	---					-	100206570	CACC	-	100206567	7	5	291	1	0	1	0	1	0	0	0	0	16072	478	17	0	1552	0	TM9SF2	13	100206567	Frame_Shift_Del	DEL	CACC	TCGA-CV-7243-01A-11D-2012-08		100206567	14963311	40	51614											
HOMEZ	57594	broad.mit.edu	37	chr14	23746122	23746122	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataccacagcggaggcgctgGgccataaaccaagtcttgac	12	6	11	12	2	1	1	0	1	1	0	1	2	1	2	3	3	3	1	3	3	4	3			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:23746122G>A	ENST00000357460.5	-	2	479	c.315C>T	c.(313-315)gcC>gcT	p.A105A	HOMEZ_ENST00000561013.1_Silent_p.A107A|HOMEZ_ENST00000431326.2_Silent_p.A107A	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	105						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGAGGCGCTGGGCCATAAACC	0.502													33	201					0	0	0	0	A	23746122	G	A	23746122	2	1	291	1	0	0	0	0	0	0	0	1	7331	1219	43	4		4	HOMEZ	14	23746122	Silent	SNP	G	TCGA-CV-7243-01A-11D-2012-08		23746122	83603418	41	51615											
KIAA0586	9786	broad.mit.edu	37	chr14	58917303	58917303	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttctgttaaagcaccttTaaaagaagttgaagatacga	16	13	7	5	1	1	3	0	1	1	2	1	4	1	3	1	0	2	3	1	0	7	7			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:58917303T>C	ENST00000423743.3	+	9	1094	c.836T>C	c.(835-837)tTa>tCa	p.L279S	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.L323S|KIAA0586_ENST00000556134.1_Missense_Mutation_p.L308S|KIAA0586_ENST00000354386.6_Missense_Mutation_p.L376S	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	323										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAAGCACCTTTAAAAGAAGTT	0.308													11	38					0	0	0	0	C	58917303	T	C	58917303	3	2	291	1	0	0	0	0	1	0	0	0	8237	1764	61	5	998	5	KIAA0586	14	58917303	Missense_Mutation	SNP	T	TCGA-CV-7243-01A-11D-2012-08	35171181	58917303	48432237	42	51616											
MAP1A	4130	broad.mit.edu	37	chr15	43820775	43820775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaactgaaaccagccctaaCcccccaggccctgccccagc	10	3	6	22	0	0	1	0	1	0	0	0	1	0	1	9	1	6	0	9	1	3	1			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr15:43820775C>T	ENST00000382031.1	+	5	7849	c.7818C>T	c.(7816-7818)aaC>aaT	p.N2606N	MAP1A_ENST00000300231.5_Silent_p.N2368N|MAP1A_ENST00000399453.1_Silent_p.N2368N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2368						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAGCCCTAACCCCCCAGGCC	0.642													7	29					0	0	0	0	T	43820775	C	T	43820775	2	4	291	1	0	0	0	0	0	0	0	1	9296	506	18	4		4	MAP1A	15	43820775	Silent	SNP	C	TCGA-CV-7243-01A-11D-2012-08		43820775	58710617	43	51617											
TEX9	374618	broad.mit.edu	37	chr15	56719929	56719929	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattaattgatgttttaaaaAggcaaaaggtgagtctatca	17	13	8	3	0	2	2	1	2	1	0	2	2	2	2	0	2	0	2	0	2	8	5			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr15:56719929A>G	ENST00000537232.1	+	11	1326	c.865A>G	c.(865-867)Agg>Ggg	p.R289G	TEX9_ENST00000560582.1_Intron|TEX9_ENST00000352903.2_Missense_Mutation_p.R364G|MNS1_ENST00000566386.1_Intron			Q8N6V9	TEX9_HUMAN	testis expressed 9	364										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TGTTTTAAAAAGGCAAAAGGT	0.244													3	165					0	0	0	0	G	56719929	A	G	56719929	3	3	291	1	0	0	0	0	1	0	0	0	15878	63	3	5	1132	5	TEX9	15	56719929	Missense_Mutation	SNP	A	TCGA-CV-7243-01A-11D-2012-08	12899154	56719929	45811463	44	51618											
PKD1	5310	broad.mit.edu	37	chr16	2158447	2158447	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggatgctctgtgtcaGtggcgtgtccccaaatgaca	7	10	13	11	1	2	1	1	1	1	0	3	2	3	2	3	3	1	1	3	3	1	0			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:2158447G>C	ENST00000262304.4	-	15	6929	c.6721C>G	c.(6721-6723)Ctg>Gtg	p.L2241V	PKD1_ENST00000423118.1_Missense_Mutation_p.L2241V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2241	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTCTGTGTCAGTGGCGTGTCC	0.652													13	61					0	0	0	0	C	2158447	G	C	2158447	3	2	291	1	0	0	0	0	1	0	0	0	12035	1020	36	4	6318	4	PKD1	16	2158447	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08		2158447	88196306	45	51619											
MMP15	4324	broad.mit.edu	37	chr16	58074525	58074525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccccaatgccatcatggCgccgttctaccagtggaagg	10	7	10	14	2	2	0	1	0	1	0	2	1	2	1	5	3	3	1	5	3	4	2			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:58074525C>T	ENST00000219271.3	+	5	1618	c.833C>T	c.(832-834)gCg>gTg	p.A278V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	278					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						GCCATCATGGCGCCGTTCTAC	0.612													33	72					0	0	0	0	T	58074525	C	T	58074525	3	4	291	1	0	0	0	0	1	0	0	0	9723	768	27	1	851	1	MMP15	16	58074525	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	55916078	58074525	32280228	46	51620											
SF3B3	23450	broad.mit.edu	37	chr16	70597896	70597896	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccttattatcattgaaacGgaccacaatgcctacactga	15	10	5	11	1	1	2	1	2	0	0	1	3	1	3	3	1	4	0	3	1	6	4			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:70597896G>A	ENST00000302516.5	+	18	2617	c.2406G>A	c.(2404-2406)acG>acA	p.T802T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	802					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TCATTGAAACGGACCACAATG	0.463													14	89					0	0	0	0	A	70597896	G	A	70597896	2	1	291	1	0	0	0	0	0	0	0	1	14239	1103	39	1		1	SF3B3	16	70597896	Silent	SNP	G	TCGA-CV-7243-01A-11D-2012-08	12523371	70597896	19756857	47	51621											
MTSS1L	92154	broad.mit.edu	37	chr16	70698642	70698642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatggccaggtcactggCggcgggggacacctcctcac	7	5	13	16	2	2	0	2	0	0	0	3	1	3	1	4	6	0	0	4	6	0	0	rs149700961		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:70698642C>T	ENST00000338779.6	-	14	1604	c.1330G>A	c.(1330-1332)Gcc>Acc	p.A444T	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	444					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						AGGTCACTGGCGGCGGGGGAC	0.672													7	19					0	0	0	0	T	70698642	C	T	70698642	3	4	291	1	0	0	0	0	1	0	0	0	10033	768	27	1	921	1	MTSS1L	16	70698642	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	100746	70698642	19656111	48	51622											
KCNG4	93107	broad.mit.edu	37	chr16	84270386	84270386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgacacacaggctgaCggctgtggtggccacgaaga	9	6	16	10	2	0	3	0	2	0	1	0	4	0	3	1	5	1	3	1	5	1	0	rs138891680	byFrequency	TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:84270386C>T	ENST00000568181.1	-	2	826	c.706G>A	c.(706-708)Gtc>Atc	p.V236I	KCNG4_ENST00000308251.4_Missense_Mutation_p.V236I			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	236						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CACAGGCTGACGGCTGTGGTG	0.657													19	21					0	0	0	0	T	84270386	C	T	84270386	3	4	291	1	0	0	0	0	1	0	0	0	8083	536	19	1	859	1	KCNG4	16	84270386	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	13571744	84270386	6084367	49	51623											
TP53	7157	broad.mit.edu	37	chr17	7578446	7578466	+	In_Frame_Del	DEL	TGGCCATGGCGCGGACGCGGG	TGGCCATGGCGCGGACGCGGG	-																															gtgctgtgactgcttgtagaTggccatggcgcggacgcggg																								rs139200646		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:7578446_7578466delTGGCCATGGCGCGGACGCGGG	ENST00000420246.2	-	5	596_616	c.464_484delCCCGCGTCCGCGCCATGGCCA	c.(463-486)atc>a	p.TRVRAMAI155del	TP53_ENST00000359597.4_In_Frame_Del_p.TRVRAMAI155del|TP53_ENST00000455263.2_In_Frame_Del_p.TRVRAMAI155del|TP53_ENST00000445888.2_In_Frame_Del_p.TRVRAMAI155del|TP53_ENST00000413465.2_In_Frame_Del_p.TRVRAMAI155del|TP53_ENST00000269305.4_In_Frame_Del_p.TRVRAMAI155del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.R158L(77)|p.R158H(74)|p.A161T(54)|p.A159V(33)|p.R156P(24)|p.T155N(22)|p.A159P(19)|p.R158C(17)|p.R158G(16)|p.T155I(14)|p.A161D(11)|p.R156fs*14(11)|p.I162F(10)|p.V157I(10)|p.R156H(10)|p.R158P(9)|p.V157D(8)|p.A159A(8)|p.A161V(8)|p.R26L(8)|p.R65L(8)|p.0?(8)|p.V157G(7)|p.A159T(7)|p.A159D(7)|p.V157L(6)|p.V25F(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.M160I(6)|p.V64F(6)|p.R158fs(6)|p.R158R(6)|p.V157V(5)|p.A159fs*11(5)|p.I162V(5)|p.R26H(5)|p.A161A(5)|p.R65H(5)|p.?(5)|p.T155T(5)|p.A159S(4)|p.R158_A159insX(4)|p.M160K(4)|p.M160V(4)|p.P152fs*14(4)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.A68T(3)|p.M160fs*10(3)|p.A29T(3)|p.A161fs*9(3)|p.R156L(3)|p.M160L(3)|p.I162fs*10(3)|p.V157fs*13(3)|p.R65fs(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.A27P(2)|p.R26fs(2)|p.R156C(2)|p.A66P(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.A159fs*21(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.R65G(2)|p.R158_A159delRA(2)|p.I162fs*19(2)|p.P153fs*22(2)|p.R156_V157del(1)|p.V157A(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.A161P(1)|p.I30fs*10(1)|p.M160_A161>IS(1)|p.V157_R158delVR(1)|p.T155_A161delTRVRAMA(1)|p.A161S(1)|p.A161F(1)|p.A161G(1)|p.A27V(1)|p.V157_C176del20(1)|p.A161fs*19(1)|p.A68D(1)|p.R156_A161delRVRAMA(1)|p.R156fs*20(1)|p.M160T(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.D148_T155delDSTPPPGT(1)|p.R156_V157insV(1)|p.A161fs*20(1)|p.A161fs*8(1)|p.A66V(1)|p.S149fs*72(1)|p.T62N(1)|p.V157_M160delVRAM(1)|p.A161fs*7(1)|p.R65fs*11(1)|p.I69fs*10(1)|p.A29D(1)|p.I162fs*8(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.T62I(1)|p.A161fs*10(1)|p.I162_Y163delIY(1)|p.T23N(1)|p.T23I(1)|p.D148fs*23(1)|p.T155_R156delTR(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)|p.P151_V173del23(1)|p.V157_I162delVRAMAI(1)|p.R156_A161del(1)|p.R158F(1)|p.R158_A159insXX(1)|p.G154fs*22(1)|p.T155S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGG	0.62		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	45	---	---	---	---					-	7578466	TGGCCATGGCGCGGACGCGGG	-	7578446	7	5	291	1	0	1	0	1	0	0	0	0	16476	1464	51	0	814	0	TP53	17	7578446	In_Frame_Del	DEL	TGGCCATGGCGCGGACGCGGG	TCGA-CV-7243-01A-11D-2012-08		7578446	73616764	50	51624											
KCNJ12	3768	broad.mit.edu	37	chr17	21318845	21318845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgccaacatggacgagaagtCacagcgctacctggctgaca	12	5	11	13	3	1	2	1	1	0	1	1	4	1	3	2	2	3	2	2	2	3	1			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:21318845C>T	ENST00000583088.1	+	3	1086	c.191C>T	c.(190-192)tCa>tTa	p.S64L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S64L	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GACGAGAAGTCACAGCGCTAC	0.592										Prostate(3;0.18)			5	66					0	0	0	0	T	21318845	C	T	21318845	3	4	291	1	0	0	0	0	1	0	0	0	8099	838	29	2	193	2	KCNJ12	17	21318845	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	13740399	21318845	59876365	51	51625											
DDX52	11056	broad.mit.edu	37	chr17	35981216	35981216	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctagttggaaagtcatagTtgatcaccaagttcacacct	13	11	8	9	0	3	1	3	1	0	0	3	2	3	2	2	1	1	4	2	1	4	5			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:35981216T>C	ENST00000349699.2	-	11	1500	c.1457A>G	c.(1456-1458)aAc>aGc	p.N486S	DDX52_ENST00000394367.3_Missense_Mutation_p.N378S	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	486	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				AAAGTCATAGTTGATCACCAA	0.433													17	26					0	0	0	0	C	35981216	T	C	35981216	3	2	291	1	0	0	0	0	1	0	0	0	4402	1725	60	5	362	5	DDX52	17	35981216	Missense_Mutation	SNP	T	TCGA-CV-7243-01A-11D-2012-08	14662371	35981216	45213994	52	51626											
CNTNAP1	8506	broad.mit.edu	37	chr17	40847683	40847683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcccgggctatgatactcCgggctatgtgcctggctacc	6	10	11	14	2	0	1	0	1	0	0	2	1	2	1	4	3	3	3	4	3	4	4			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:40847683C>T	ENST00000264638.4	+	19	3354	c.3137C>T	c.(3136-3138)cCg>cTg	p.P1046L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1046					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TATGATACTCCGGGCTATGTG	0.657													15	56					0	0	0	0	T	40847683	C	T	40847683	3	4	291	1	0	0	0	0	1	0	0	0	3676	652	23	1	3211	1	CNTNAP1	17	40847683	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	4866467	40847683	40347527	53	51627											
PTPRM	5797	broad.mit.edu	37	chr18	8379226	8379226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcgcactgttgccccGgaaccatgagaaaaaccggt	12	6	10	13	3	0	1	0	1	0	1	1	3	0	2	4	2	4	3	4	2	3	1			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr18:8379226G>A	ENST00000332175.8	+	26	4672	c.3635G>A	c.(3634-3636)cGg>cAg	p.R1212Q	PTPRM_ENST00000580170.1_Missense_Mutation_p.R1225Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.R999Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.R1150Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.R1226Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1212	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTGTTGCCCCGGAACCATGAG	0.547													18	102					0	0	0	0	A	8379226	G	A	8379226	3	1	291	1	0	0	0	0	1	0	0	0	12888	1116	39	1	3784	1	PTPRM	18	8379226	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08		8379226	69698022	54	51628											
ELAC1	55520	broad.mit.edu	37	chr18	48500811	48500811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattcctggggacgggtgcaGcatacccatctccaacccgg	8	7	11	15	2	1	0	0	0	1	0	3	1	2	1	4	4	4	2	4	4	2	2			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr18:48500811G>A	ENST00000269466.3	+	2	144	c.37G>A	c.(37-39)Gca>Aca	p.A13T	RP11-729L2.2_ENST00000590722.2_Missense_Mutation_p.A13T|ELAC1_ENST00000591429.1_Missense_Mutation_p.A13T|ELAC1_ENST00000588577.1_Missense_Mutation_p.A13T|RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000452201.2_5'UTR	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	13					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		GACGGGTGCAGCATACCCATC	0.507													9	50					0	0	0	0	A	48500811	G	A	48500811	3	1	291	1	0	0	0	0	1	0	0	0	5084	971	34	4	39	4	ELAC1	18	48500811	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08	40121585	48500811	29576437	55	51629											
ATP5D	513	broad.mit.edu	37	chr19	1244103	1244103	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccattcccccagtgagcagCggttccatcgcagtgaacgc	8	7	10	16	3	0	2	0	2	0	0	3	2	2	2	4	1	3	3	4	1	1	2			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:1244103C>T	ENST00000215375.2	+	3	404	c.303C>T	c.(301-303)agC>agT	p.S101S	ATP5D_ENST00000395633.1_Silent_p.S101S|ATP5D_ENST00000591660.1_Silent_p.S101S	NM_001687.4	NP_001678.1	P30049	ATPD_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit	101					mitochondrial ATP synthesis coupled proton transport|oxidative phosphorylation|respiratory electron transport chain|response to copper ion	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			large_intestine(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGTGAGCAGCGGTTCCATCG	0.647											OREG0025113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5					0	0	0	0	T	1244103	C	T	1244103	2	4	291	1	0	0	0	0	0	0	0	1	1154	767	27	1		1	ATP5D	19	1244103	Silent	SNP	C	TCGA-CV-7243-01A-11D-2012-08		1244103	57884880	56	51630											
PLEKHJ1	55111	broad.mit.edu	37	chr19	2234193	2234193	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactcctgacactgctcctcGctgctgcactcaaagtgata	9	10	7	15	1	1	2	1	2	0	0	4	2	3	2	2	0	3	4	2	0	2	1			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:2234193G>A	ENST00000589097.1	-	5	1389	c.276C>T	c.(274-276)agC>agT	p.S92S	PLEKHJ1_ENST00000326631.2_Silent_p.S92S|PLEKHJ1_ENST00000588545.1_Silent_p.S73S|PLEKHJ1_ENST00000589791.1_5'UTR|PLEKHJ1_ENST00000587962.1_Silent_p.S92S|PLEKHJ1_ENST00000587394.1_Silent_p.S92S|PLEKHJ1_ENST00000591099.1_Intron|PLEKHJ1_ENST00000586608.1_Intron			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	92	PH.						protein binding	p.S92R(1)		endometrium(1)|kidney(1)	2				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)		ACTGCTCCTCGCTGCTGCACT	0.632													13	60					0	0	0	0	A	2234193	G	A	2234193	2	1	291	1	0	0	0	0	0	0	0	1	12151	1078	38	1		1	PLEKHJ1	19	2234193	Silent	SNP	G	TCGA-CV-7243-01A-11D-2012-08	990090	2234193	56894790	57	51631											
MUC16	94025	broad.mit.edu	37	chr19	9088852	9088852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcagagagagaagtggcaGaggttgaaacagtggttgtt	13	9	16	3	0	0	4	0	1	0	3	0	6	0	4	0	3	2	5	0	3	3	4			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:9088852G>T	ENST00000397910.4	-	1	3166	c.2963C>A	c.(2962-2964)tCt>tAt	p.S988Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	988	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						AGAAGTGGCAGAGGTTGAAAC	0.463													55	241					1.19403e-26	1.07098e-25	1	0	T	9088852	G	T	9088852	3	4	291	1	0	0	0	0	1	0	0	0	10043	942	33	2	40896	2	MUC16	19	9088852	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08	6854659	9088852	50040131	58	51632											
ZNF799	90576	broad.mit.edu	37	chr19	12502821	12502821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccacattcatgatactcatAtggtttgtgcccagcaccaa	11	12	6	12	0	2	1	2	1	0	0	3	1	3	1	3	1	3	2	3	1	3	4	rs2902319		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:12502821A>G	ENST00000419318.1	-	4	1044	c.295T>C	c.(295-297)Tat>Cat	p.Y99H	CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.Y131H|ZNF799_ENST00000430385.3_Missense_Mutation_p.Y131H|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y131H(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGATACTCATATGGTTTGTGC	0.448													3	117					0	0	0	0	G	12502821	A	G	12502821	3	3	291	1	0	0	0	0	1	0	0	0	18259	449	16	5	1544	5	ZNF799	19	12502821	Missense_Mutation	SNP	A	TCGA-CV-7243-01A-11D-2012-08	3413969	12502821	46626162	59	51633											
CACNA1A	773	broad.mit.edu	37	chr19	13395974	13395974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcctcctcctccttcttCtcttcctctttttttggcag	1	21	3	16	0	4	0	0	0	4	0	10	0	9	0	5	1	0	1	5	1	0	7			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:13395974C>T	ENST00000360228.5	-	21	3599	c.3600G>A	c.(3598-3600)gaG>gaA	p.E1200E	CACNA1A_ENST00000573710.2_Silent_p.E1201E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1201					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	cctccttcttctcttcctctt	0.527													28	43					0	0	0	0	T	13395974	C	T	13395974	2	4	291	1	0	0	0	0	0	0	0	1	2563	912	32	2		2	CACNA1A	19	13395974	Silent	SNP	C	TCGA-CV-7243-01A-11D-2012-08	893153	13395974	45733009	60	51634											
TMEM59L	25789	broad.mit.edu	37	chr19	18729231	18729231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgctgcctcttcctcTccgtgctggtgatgctgtgg	1	14	13	13	1	2	1	0	1	2	0	4	1	3	1	4	3	4	3	4	3	0	1			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:18729231T>C	ENST00000600490.1	+	8	1014	c.829T>C	c.(829-831)Tcc>Ccc	p.S277P	TMEM59L_ENST00000262817.3_Missense_Mutation_p.S277P			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	277						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCTCTTCCTCTCCGTGCTGGT	0.697													3	26					0	0	0	0	C	18729231	T	C	18729231	3	2	291	1	0	0	0	0	1	0	0	0	16280	1551	54	5	855	5	TMEM59L	19	18729231	Missense_Mutation	SNP	T	TCGA-CV-7243-01A-11D-2012-08	5333257	18729231	40399752	61	51635											
ZNF14	7561	broad.mit.edu	37	chr19	19823301	19823301	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgagttcgaaagtatgtGggacaactgaaagccttacc	13	10	10	8	1	1	2	1	2	0	0	2	4	1	3	2	1	3	2	2	1	5	3			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:19823301G>T	ENST00000344099.3	-	4	927	c.789C>A	c.(787-789)ccC>ccA	p.P263P		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GAAAGTATGTGGGACAACTGA	0.388													5	67					0.00116845	0.00968928	1	0	T	19823301	G	T	19823301	2	4	291	1	0	0	0	0	0	0	0	1	17823	1335	47	4		4	ZNF14	19	19823301	Silent	SNP	G	TCGA-CV-7243-01A-11D-2012-08	1094070	19823301	39305682	62	51636											
RYR1	6261	broad.mit.edu	37	chr19	38980889	38980889	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactgcaagacgtacccgCgagttccgctccccacccca	9	5	9	18	4	0	2	0	0	0	2	2	4	2	2	6	0	2	4	6	0	2	2			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:38980889C>T	ENST00000355481.4	+	36	6119	c.5988C>T	c.(5986-5988)cgC>cgT	p.R1996R	RYR1_ENST00000359596.3_Silent_p.R1996R|RYR1_ENST00000360985.3_Silent_p.R1996R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1996	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GACGTACCCGCGAGTTCCGCT	0.572													14	29					0	0	0	0	T	38980889	C	T	38980889	2	4	291	1	0	0	0	0	0	0	0	1	13853	755	27	1		1	RYR1	19	38980889	Silent	SNP	C	TCGA-CV-7243-01A-11D-2012-08	19157588	38980889	20148094	63	51637											
PSG8	440533	broad.mit.edu	37	chr19	43258661	43258661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgccggtgggttagagtccGcagaacaggacaagtagagg	11	6	17	7	2	0	3	0	0	0	3	1	4	1	4	2	4	2	3	2	4	4	2			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:43258661G>A	ENST00000404209.4	-	5	1163	c.1067C>T	c.(1066-1068)gCg>gTg	p.A356V	PSG8_ENST00000406636.3_Missense_Mutation_p.A234V|PSG8_ENST00000401467.2_Missense_Mutation_p.A263V|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.A356V	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	356	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTAGAGTCCGCAGAACAGGA	0.453													53	237					0	0	0	0	A	43258661	G	A	43258661	3	1	291	1	0	0	0	0	1	0	0	0	12740	1087	38	1	238	1	PSG8	19	43258661	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08	4277772	43258661	15870322	64	51638											
GLTSCR1	29998	broad.mit.edu	37	chr19	48183863	48183863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctactgcctggcgccccggCggtccagctcccgcagcagc	4	5	12	20	4	0	0	0	0	0	0	2	0	2	0	6	3	5	3	6	3	1	1			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:48183863C>T	ENST00000396720.3	+	6	1630	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	479							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGCGCCCCGGCGGTCCAGCTC	0.697													11	23					0	0	0	0	T	48183863	C	T	48183863	3	4	291	1	0	0	0	0	1	0	0	0	6525	768	27	1	1450	1	GLTSCR1	19	48183863	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	4925202	48183863	10945120	65	51639											
BAX	581	broad.mit.edu	37	chr19	49458947	49458947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccatccccactctagtttCatccaggatcgagcagggcg	8	9	9	15	2	2	0	1	0	1	0	6	2	5	1	4	2	1	2	4	2	1	2			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:49458947C>T	ENST00000391871.3	+	2	87	c.38C>T	c.(37-39)tCa>tTa	p.S13L	BAX_ENST00000539787.1_Silent_p.F30F|BAX_ENST00000415969.2_Silent_p.F30F|BAX_ENST00000345358.7_Silent_p.F30F|BAX_ENST00000354470.3_Intron|BAX_ENST00000293288.8_Silent_p.F30F			Q07812	BAX_HUMAN	BCL2-associated X protein	13					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		ACTCTAGTTTCATCCAGGATC	0.582													11	75					0	0	0	0	T	49458947	C	T	49458947	3	4	291	1	0	0	0	0	1	0	0	0	1332	825	29	2	100	2	BAX	19	49458947	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	1275084	49458947	9670036	66	51640											
ALDH16A1	126133	broad.mit.edu	37	chr19	49962338	49962338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcgtccgggcccagcacctGaccaggtgatgcagctgagg	7	6	15	13	2	0	3	0	3	0	0	2	3	1	3	4	3	3	3	4	3	0	0			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:49962338G>A	ENST00000293350.4	+	3	478	c.315G>A	c.(313-315)ctG>ctA	p.L105L	ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000598015.1_Intron|ALDH16A1_ENST00000455361.2_Silent_p.L105L|ALDH16A1_ENST00000433981.2_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	105							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCCAGCACCTGACCAGGTGAT	0.642													14	94					0	0	0	0	A	49962338	G	A	49962338	2	1	291	1	0	0	0	0	0	0	0	1	488	1277	45	2		2	ALDH16A1	19	49962338	Silent	SNP	G	TCGA-CV-7243-01A-11D-2012-08	503391	49962338	9166645	67	51641											
PRR12	57479	broad.mit.edu	37	chr19	50100303	50100305	+	In_Frame_Del	DEL	CGG	CGG	-																															tggcgtaggcccaccaaactCggagggcaaggatcccgcag																										TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:50100303_50100305delCGG	ENST00000418929.2	+	4	2723_2725	c.2711_2713delCGG	c.(2710-2715)tag>t	p.SE904del		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	83	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)		CCACCAAACTCGGAGGGCAAGGA	0.69													3	4	---	---	---	---					-	50100305	CGG	-	50100303	7	5	291	1	0	1	0	1	0	0	0	0	12664	893	31	0	2725	0	PRR12	19	50100303	In_Frame_Del	DEL	CGG	TCGA-CV-7243-01A-11D-2012-08	137965	50100303	9028680	68	51642											
ZNF610	162963	broad.mit.edu	37	chr19	52869877	52869877	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggcgcaaattatacctaAccaaccatcagagaattcat	15	10	6	10	1	2	1	2	0	0	1	2	2	2	1	3	1	3	1	3	1	6	5			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:52869877A>T	ENST00000601151.1	+	5	1569	c.1117A>T	c.(1117-1119)Acc>Tcc	p.T373S	ZNF610_ENST00000327920.8_Missense_Mutation_p.T416S|ZNF610_ENST00000403906.3_Missense_Mutation_p.T416S|ZNF610_ENST00000321287.8_Missense_Mutation_p.T416S	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ATTATACCTAACCAACCATCA	0.423													11	53					0	0	0	0	T	52869877	A	T	52869877	3	4	291	1	0	0	0	0	1	0	0	0	18131	43	2	5	1260	5	ZNF610	19	52869877	Missense_Mutation	SNP	A	TCGA-CV-7243-01A-11D-2012-08	2769574	52869877	6259106	69	51643											
CACNG7	59284	broad.mit.edu	37	chr19	54416119	54416119	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagccgcgccctgaccctgCtgagcagcgtgtttggtgcg	4	8	15	14	4	0	2	0	2	0	0	0	2	0	2	3	1	5	4	3	1	0	1			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:54416119C>T	ENST00000391767.1	+	2	246	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	CACNG7_ENST00000222212.2_Silent_p.L12L|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000391766.1_Silent_p.L12L			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	12					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTGACCCTGCTGAGCAGCGT	0.632													7	41					0	0	0	0	T	54416119	C	T	54416119	2	4	291	1	0	0	0	0	0	0	0	1	2587	796	28	4		4	CACNG7	19	54416119	Silent	SNP	C	TCGA-CV-7243-01A-11D-2012-08	1546242	54416119	4712864	70	51644											
NLRP11	204801	broad.mit.edu	37	chr19	56300195	56300195	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactaccttaagtacacaatCtgggctgatcaagctctcaa	14	10	6	11	0	3	1	2	1	2	0	4	1	3	1	1	1	4	3	1	1	7	3			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:56300195C>G	ENST00000443188.1	-	11	3543	c.2833G>C	c.(2833-2835)Gat>Cat	p.D945H	NLRP11_ENST00000360133.3_Missense_Mutation_p.D891H|NLRP11_ENST00000589824.2_Missense_Mutation_p.D891H|NLRP11_ENST00000589093.1_Missense_Mutation_p.D945H|NLRP11_ENST00000592953.1_Missense_Mutation_p.D846H	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	945							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)		AGTACACAATCTGGGCTGATC	0.353													11	50					0	0	0	0	G	56300195	C	G	56300195	3	3	291	1	0	0	0	0	1	0	0	0	10543	913	32	2	276	2	NLRP11	19	56300195	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08	1884076	56300195	2828788	71	51645											
ZNF329	79673	broad.mit.edu	37	chr19	58639337	58639337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttccacactgaggacaccGgctgggaccctccctgctat	7	10	9	15	1	0	1	0	1	0	0	2	3	2	3	4	3	1	2	4	3	1	3			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:58639337G>A	ENST00000598312.1	-	4	1767	c.1534C>T	c.(1534-1536)Cgg>Tgg	p.R512W	ZNF329_ENST00000358067.4_Missense_Mutation_p.R512W	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGAGGACACCGGCTGGGACCC	0.507													63	106					0	0	0	0	A	58639337	G	A	58639337	3	1	291	1	0	0	0	0	1	0	0	0	17942	1115	39	1	95	1	ZNF329	19	58639337	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08	2339142	58639337	489646	72	51646											
SIRPB1	10326	broad.mit.edu	37	chr20	1551696	1551696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggtcagctgtagtcccCgggggtagaaattgctcacc	9	8	12	12	1	2	1	2	0	0	1	3	1	3	1	4	3	2	4	4	3	3	3			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr20:1551696C>T	ENST00000381605.4	-	4	903	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	280	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CTGTAGTCCCCGGGGGTAGAA	0.537													38	68					0	0	0	0	T	1551696	C	T	1551696	3	4	291	1	0	0	0	0	1	0	0	0	14421	652	23	1	365	1	SIRPB1	20	1551696	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08		1551696	61473824	73	51647											
PAX1	5075	broad.mit.edu	37	chr20	21687285	21687285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattctgcccggggccatcGgggggagcaagccccgcgtc	5	5	15	16	4	1	0	0	0	1	0	3	1	1	1	5	5	3	1	5	5	1	1			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr20:21687285G>A	ENST00000398485.2	+	2	550	c.496G>A	c.(496-498)Ggg>Agg	p.G166R	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.G142R	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	166	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGGGGCCATCGGGGGGAGCAA	0.647													18	89					0	0	0	0	A	21687285	G	A	21687285	3	1	291	1	0	0	0	0	1	0	0	0	11549	1116	39	1	502	1	PAX1	20	21687285	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08	20135589	21687285	41338235	74	51648											
CHD6	84181	broad.mit.edu	37	chr20	40192707	40192707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaagcgttgtgggatttggGcaacttatttgatctccctg	8	14	11	8	1	1	1	0	1	1	0	2	2	1	2	1	2	2	2	1	2	3	4			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr20:40192707G>C	ENST00000373222.3	-	2	119	c.81C>G	c.(79-81)tgC>tgG	p.C27W	CHD6_ENST00000373233.3_Intron|CHD6_ENST00000309279.7_Intron			Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2338					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				tgggatttgggcaacttattt	0.398													9	39					0	0	0	0	C	40192707	G	C	40192707	3	2	291	1	0	0	0	0	1	0	0	0	3358	1218	42	4		4	CHD6	20	40192707	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08	18505422	40192707	22832813	75	51649											
NCAM2	4685	broad.mit.edu	37	chr21	22804480	22804480	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagagctgtcgcagaccacGgccaaggtttccttcaacaa	12	8	9	12	2	1	2	1	0	0	2	3	2	2	2	3	2	2	3	3	2	4	3			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr21:22804480G>A	ENST00000400546.1	+	12	1782	c.1533G>A	c.(1531-1533)acG>acA	p.T511T	NCAM2_ENST00000284894.7_Silent_p.T369T	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	511	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CGCAGACCACGGCCAAGGTTT	0.448													6	48					0	0	0	0	A	22804480	G	A	22804480	2	1	291	1	0	0	0	0	0	0	0	1	10273	1103	39	1		1	NCAM2	21	22804480	Silent	SNP	G	TCGA-CV-7243-01A-11D-2012-08		22804480	25325415	76	51650											
HPS4	89781	broad.mit.edu	37	chr22	26849348	26849348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatggggttgcaacaggCgtacacagccgtggaggcat	9	7	16	9	2	0	0	0	0	0	0	0	2	0	2	1	6	4	4	1	6	2	2			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr22:26849348C>T	ENST00000398145.2	-	14	2594	c.1978G>A	c.(1978-1980)Gcc>Acc	p.A660T	HPS4_ENST00000398141.1_Missense_Mutation_p.A673T|HPS4_ENST00000493455.2_Intron|HPS4_ENST00000336873.5_Missense_Mutation_p.A660T|HPS4_ENST00000402105.3_Missense_Mutation_p.A655T	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	660					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TTGCAACAGGCGTACACAGCC	0.562									Hermansky-Pudlak syndrome				16	105					0	0	0	0	T	26849348	C	T	26849348	3	4	291	1	0	0	0	0	1	0	0	0	7391	768	27	1	152	1	HPS4	22	26849348	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08		26849348	24455218	77	51651											
NOX1	27035	broad.mit.edu	37	chrX	100099014	100099014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatatcggtgacagcatttgCgcaggctctttgccaaagtc	10	11	10	10	2	1	1	0	1	1	0	3	1	1	1	1	2	3	3	1	2	3	3			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chrX:100099014C>T	ENST00000372966.3	-	13	1827	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.R492H|NOX1_ENST00000372960.4_Missense_Mutation_p.R504H	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	541					angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACAGCATTTGCGCAGGCTCTT	0.428													5	18					0	0	0	0	T	100099014	C	T	100099014	3	4	291	1	0	0	0	0	1	0	0	0	10626	768	27	1	76	1	NOX1	23	100099014	Missense_Mutation	SNP	C	TCGA-CV-7243-01A-11D-2012-08		100099014	55171546	78	51652											
GPR112	139378	broad.mit.edu	37	chrX	135487937	135487937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgaatctctccatgttctGcactgttcttgttcaactga	8	16	6	11	0	4	2	1	2	3	0	6	2	5	2	1	0	2	4	1	0	2	4			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chrX:135487937G>A	ENST00000394143.1	+	23	9032	c.8741G>A	c.(8740-8742)tGc>tAc	p.C2914Y	GPR112_ENST00000370652.1_Missense_Mutation_p.C2914Y|GPR112_ENST00000394141.1_Missense_Mutation_p.C2709Y|GPR112_ENST00000412101.1_Missense_Mutation_p.C2709Y|GPR112_ENST00000287534.4_Missense_Mutation_p.C2667Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2914					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C2914F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCATGTTCTGCACTGTTCTT	0.398													24	65					0	0	0	0	A	135487937	G	A	135487937	3	1	291	1	0	0	0	0	1	0	0	0	6678	1319	46	4	8819	4	GPR112	23	135487937	Missense_Mutation	SNP	G	TCGA-CV-7243-01A-11D-2012-08	35388923	135487937	19782623	79	51653											
TKTL1	8277	broad.mit.edu	37	chrX	153524304	153524305	+	Frame_Shift_Ins	INS	-	-	GC																															caagatatggccagccgcttINSgcgaatccattccatcaggg																										TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chrX:153524304_153524305insGC	ENST00000369915.3	+	1	281_282	c.92_93insGC	c.(91-93)tcgfs	p.S31fs	TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	31					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCAGCCGCTTGCGAATCCATT	0.614													30	129	---	---	---	---					GC	153524305	-	GC	153524304	7	5	291	1	0	1	1	0	0	0	0	0	16029	1821	63	0	94	0	TKTL1	23	153524304	Frame_Shift_Ins	INS	-	TCGA-CV-7243-01A-11D-2012-08	18036367	153524304	1746256	80	51654											
VPS13D	55187	broad.mit.edu	37	chr1	12418560	12418560	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcatccagaaggcatgccGggctggtgtcagggcttctc	7	10	13	11	1	3	1	2	0	1	1	5	1	4	1	2	4	1	3	2	4	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:12418560G>T	ENST00000358136.3	+	50	10174	c.10044G>T	c.(10042-10044)ccG>ccT	p.P3348P	VPS13D_ENST00000356315.4_Silent_p.P3323P	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3347					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGGCATGCCGGGCTGGTGTC	0.512													39	17					3.54909e-21	7.10528e-21	1	0	T	12418560	G	T	12418560	2	4	292	1	0	0	0	0	0	0	0	1	17288	1103	39	3		3	VPS13D	1	12418560	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08		12418560	236832061	1	51655											
KLHDC7A	127707	broad.mit.edu	37	chr1	18808770	18808770	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaggtccgcctggatcTgggcaattgctatgaggtgc	7	9	13	12	1	1	1	0	1	1	0	2	2	2	2	3	4	2	2	3	4	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:18808770T>C	ENST00000400664.1	+	1	1347	c.1295T>C	c.(1294-1296)cTg>cCg	p.L432P		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	432						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCTGGATCTGGGCAATTGC	0.612													72	40					0	0	0	0	C	18808770	T	C	18808770	3	2	292	1	0	0	0	0	1	0	0	0	8412	1580	55	5	1297	5	KLHDC7A	1	18808770	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	6390210	18808770	230441851	2	51656											
SH2D5	400745	broad.mit.edu	37	chr1	21054083	21054083	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaggtcatccacagggAaggagcccacgtactgctcg	9	7	12	13	2	1	0	1	0	0	0	4	2	3	2	3	3	3	2	3	3	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:21054083A>T	ENST00000444387.2	-	3	498	c.101T>A	c.(100-102)tTc>tAc	p.F34Y	SH2D5_ENST00000375031.1_5'UTR|SH2D5_ENST00000460804.1_Intron	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	269										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATCCACAGGGAAGGAGCCCAC	0.637													13	5					0	0	0	0	T	21054083	A	T	21054083	3	4	292	1	0	0	0	0	1	0	0	0	14324	246	9	5	1202	5	SH2D5	1	21054083	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	2245313	21054083	228196538	3	51657											
HSPG2	3339	broad.mit.edu	37	chr1	22179293	22179293	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgcctgagtcggccggggtCacctggtgcagccgcagcag	5	6	16	14	4	1	1	1	1	0	0	3	1	1	1	4	4	3	3	4	4	0	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:22179293C>T	ENST00000374695.3	-	52	6703	c.6624G>A	c.(6622-6624)gtG>gtA	p.V2208V	HSPG2_ENST00000430507.1_Silent_p.V154V	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2208	Ig-like C2-type 7.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGGCCGGGGTCACCTGGTGCA	0.657													19	44					0	0	0	0	T	22179293	C	T	22179293	2	4	292	1	0	0	0	0	0	0	0	1	7483	813	29	2		2	HSPG2	1	22179293	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1125210	22179293	227071328	4	51658											
SEPN1	57190	broad.mit.edu	37	chr1	26138256	26138256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagcatgatcgacagccaCctgccttcaggggagcccct	8	6	12	15	1	1	1	1	1	0	0	2	3	1	2	5	3	4	2	5	3	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:26138256C>T	ENST00000361547.2	+	9	1222	c.1167C>T	c.(1165-1167)caC>caT	p.H389H	SEPN1_ENST00000354177.4_Silent_p.H355H|SEPN1_ENST00000374315.1_Silent_p.H355H	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	389						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCGACAGCCACCTGCCTTCAG	0.647													4	17					0	0	0	0	T	26138256	C	T	26138256	2	4	292	1	0	0	0	0	0	0	0	1	14143	506	18	4		4	SEPN1	1	26138256	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3958963	26138256	223112365	5	51659											
FGR	2268	broad.mit.edu	37	chr1	27949593	27949593	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcgcccttggtgaaggTgaggtcatcctcagttcgag	6	12	12	11	2	3	2	2	2	1	0	6	3	4	2	2	3	0	1	2	3	1	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:27949593T>A	ENST00000374005.3	-	4	577	c.289A>T	c.(289-291)Acc>Tcc	p.T97S	FGR_ENST00000545953.1_Missense_Mutation_p.T97S|FGR_ENST00000399173.1_Missense_Mutation_p.T97S|FGR_ENST00000374004.1_Missense_Mutation_p.T97S	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	97	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGGTGAAGGTGAGGTCATCC	0.557													16	60					0	0	0	0	A	27949593	T	A	27949593	3	1	292	1	0	0	0	0	1	0	0	0	5919	1696	59	5	1340	5	FGR	1	27949593	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	1811337	27949593	221301028	6	51660											
PTPRF	5792	broad.mit.edu	37	chr1	44054597	44054597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagctcagcaatgtcgtacGctctgccaactacacctgtg	9	9	10	13	2	2	0	1	0	1	0	3	1	2	1	2	1	6	4	2	1	4	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:44054597G>T	ENST00000359947.4	+	8	1215	c.875G>T	c.(874-876)cGc>cTc	p.R292L	PTPRF_ENST00000372413.3_Missense_Mutation_p.R292L|PTPRF_ENST00000372414.3_Missense_Mutation_p.R292L|PTPRF_ENST00000438120.1_Missense_Mutation_p.R292L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	292	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AATGTCGTACGCTCTGCCAAC	0.597													5	16					4.096e-09	6.98483e-09	1	0	T	44054597	G	T	44054597	3	4	292	1	0	0	0	0	1	0	0	0	12883	1087	38	3	897	3	PTPRF	1	44054597	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	16105004	44054597	205196024	7	51661											
PTPRF	5792	broad.mit.edu	37	chr1	44058190	44058190	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacctgaagcctgacacactCtaccgcttccagctggctgc	8	8	9	16	1	1	2	0	2	1	0	2	3	2	2	4	1	4	3	4	1	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:44058190C>G	ENST00000359947.4	+	11	2071	c.1731C>G	c.(1729-1731)ctC>ctG	p.L577L	PTPRF_ENST00000372413.3_Silent_p.L577L|PTPRF_ENST00000372414.3_Silent_p.L577L|PTPRF_ENST00000438120.1_Silent_p.L577L|PTPRF_ENST00000422171.2_Silent_p.L36L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	577	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGACACACTCTACCGCTTCC	0.602													72	37					0	0	0	0	G	44058190	C	G	44058190	2	3	292	1	0	0	0	0	0	0	0	1	12883	900	32	2		2	PTPRF	1	44058190	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3593	44058190	205192431	8	51662											
PTPRF	5792	broad.mit.edu	37	chr1	44058210	44058210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaccgcttccagctggctgCacgctcggatatgggggtgg	5	9	15	12	3	0	0	0	0	0	0	2	1	1	1	2	5	3	5	2	5	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:44058210C>T	ENST00000359947.4	+	11	2091	c.1751C>T	c.(1750-1752)gCa>gTa	p.A584V	PTPRF_ENST00000372413.3_Missense_Mutation_p.A584V|PTPRF_ENST00000372414.3_Missense_Mutation_p.A584V|PTPRF_ENST00000438120.1_Missense_Mutation_p.A584V|PTPRF_ENST00000422171.2_Missense_Mutation_p.A43V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	584	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGCTGGCTGCACGCTCGGAT	0.612													50	32					0	0	0	0	T	44058210	C	T	44058210	3	4	292	1	0	0	0	0	1	0	0	0	12883	710	25	4	1785	4	PTPRF	1	44058210	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	20	44058210	205192411	9	51663											
SPATA6	54558	broad.mit.edu	37	chr1	48764465	48764465	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttgtccatgctgttctCaaagatgggtcggtgggatt	7	14	12	8	1	2	1	1	0	2	1	5	2	3	2	1	3	1	2	1	3	1	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:48764465C>A	ENST00000371847.3	-	13	1551	c.1387G>T	c.(1387-1389)Gag>Tag	p.E463*	SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E391*|SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E447*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	463					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATGCTGTTCTCAAAGATGGGT	0.468													36	85					1.06647e-15	2.04118e-15	1	0	A	48764465	C	A	48764465	4	1	292	1	0	0	0	0	0	1	0	0	15103	835	29	2	83	2	SPATA6	1	48764465	Nonsense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	4706255	48764465	200486156	10	51664											
LRRIQ3	127255	broad.mit.edu	37	chr1	74506982	74506982	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcaggcttttctcttttaGgacagcctcattcttctcca	8	16	5	12	0	5	0	2	0	3	0	7	1	5	1	2	2	1	1	2	2	2	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:74506982G>C	ENST00000354431.4	-	7	1824	c.1633C>G	c.(1633-1635)Cta>Gta	p.L545V	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.L545V	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	545										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCTCTTTTAGGACAGCCTCA	0.328													16	48					0	0	0	0	C	74506982	G	C	74506982	3	2	292	1	0	0	0	0	1	0	0	0	9094	991	35	4	249	4	LRRIQ3	1	74506982	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	25742517	74506982	174743639	11	51665											
MSH4	4438	broad.mit.edu	37	chr1	76365339	76365339	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgtcatcacttccaccatCaattgtcttggatgccaagg	9	12	9	11	0	4	0	3	0	1	0	5	1	5	1	3	3	1	0	3	3	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:76365339C>G	ENST00000263187.3	+	19	2671	c.2567C>G	c.(2566-2568)tCa>tGa	p.S856*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	856					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTTCCACCATCAATTGTCTTG	0.303								Mismatch excision repair (MMR)					16	41					0	0	0	0	G	76365339	C	G	76365339	4	3	292	1	0	0	0	0	0	1	0	0	9942	838	29	2	2641	2	MSH4	1	76365339	Nonsense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1858357	76365339	172885282	12	51666											
VCAM1	7412	broad.mit.edu	37	chr1	101200228	101200228	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatagatggcgcctataccAtccgaaaggcccagttgaag	12	8	10	11	2	0	2	0	1	0	1	1	3	1	2	4	2	1	1	4	2	6	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:101200228A>G	ENST00000294728.2	+	8	2064	c.1963A>G	c.(1963-1965)Atc>Gtc	p.I655V	VCAM1_ENST00000370115.1_Missense_Mutation_p.I456V|VCAM1_ENST00000347652.2_Missense_Mutation_p.I563V|VCAM1_ENST00000370119.4_Missense_Mutation_p.I593V	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	655	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CGCCTATACCATCCGAAAGGC	0.398													23	17					0	0	0	0	G	101200228	A	G	101200228	3	3	292	1	0	0	0	0	1	0	0	0	17233	217	8	5	1993	5	VCAM1	1	101200228	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	24834889	101200228	148050393	13	51667											
COL11A1	1301	broad.mit.edu	37	chr1	103444450	103444450	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccagtgggacctcttgcaCctcttgaacctcgaggaccc	7	9	9	16	1	2	1	0	1	2	0	4	4	3	3	5	2	2	1	5	2	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:103444450C>A	ENST00000358392.2	-	34	3028	c.2711G>T	c.(2710-2712)gGt>gTt	p.G904V	COL11A1_ENST00000353414.4_Missense_Mutation_p.G853V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G892V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G776V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	892	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTCTTGCACCTCTTGAACC	0.403													38	25					8.69298e-16	1.66699e-15	1	0	A	103444450	C	A	103444450	3	1	292	1	0	0	0	0	1	0	0	0	3697	507	18	4	2881	4	COL11A1	1	103444450	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2244222	103444450	145806171	14	51668											
TBX15	6913	broad.mit.edu	37	chr1	119474274	119474274	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgatcatttcagttccAatatcatggaaccgcttcca	11	13	7	10	1	3	2	3	2	0	0	5	3	5	3	3	1	1	2	3	1	3	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:119474274A>C	ENST00000369429.3	-	2	396	c.387T>G	c.(385-387)atT>atG	p.I129M	TBX15_ENST00000207157.3_Missense_Mutation_p.I23M			Q96SF7	TBX15_HUMAN	T-box 15	129						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTTCAGTTCCAATATCATGGA	0.493													9	40					0	0	0	0	C	119474274	A	C	119474274	3	2	292	1	0	0	0	0	1	0	0	0	15746	126	5	5	1449	5	TBX15	1	119474274	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	16029824	119474274	129776347	15	51669											
GJA8	2703	broad.mit.edu	37	chr1	147380375	147380375	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgtggggcacgcggtgcActacgtccgcatggaggaga	8	6	17	10	5	0	1	0	0	0	1	1	3	1	2	1	5	3	4	1	5	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:147380375A>T	ENST00000240986.4	+	2	346	c.293A>T	c.(292-294)cAc>cTc	p.H98L	GJA8_ENST00000369235.1_Missense_Mutation_p.H98L	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	98					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CACGCGGTGCACTACGTCCGC	0.652													17	57					0	0	0	0	T	147380375	A	T	147380375	3	4	292	1	0	0	0	0	1	0	0	0	6456	159	6	5	295	5	GJA8	1	147380375	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	27906101	147380375	101870246	16	51670											
NBPF14	25832	broad.mit.edu	37	chr1	148004599	148004599	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggtggagacttgtcacCgtcaaagtaaaaaacctatt	15	9	8	9	1	2	1	2	0	0	1	2	2	2	1	3	2	1	1	3	2	5	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:148004599C>A	ENST00000369219.1	-	22	2731	c.2715G>T	c.(2713-2715)acG>acT	p.T905T				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	905	NBPF 10.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GACTTGTCACCGTCAAAGTAA	0.463													13	351					8.34094e-07	1.33803e-06	1	0	A	148004599	C	A	148004599	2	1	292	1	0	0	0	0	0	0	0	1	10264	639	23	3		3	NBPF14	1	148004599	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	624224	148004599	101246022	17	51671											
ECM1	1893	broad.mit.edu	37	chr1	150480696	150480696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccccaggatggggaccaCagccagagcagccttggtct	8	7	13	13	0	1	1	0	0	1	1	1	3	1	3	5	4	4	1	5	4	0	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:150480696C>G	ENST00000369047.4	+	1	136	c.11C>G	c.(10-12)aCa>aGa	p.T4R	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.T4R|ECM1_ENST00000369049.4_Missense_Mutation_p.T4R	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	4					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ATGGGGACCACAGCCAGAGCA	0.597													28	55					0	0	0	0	G	150480696	C	G	150480696	3	3	292	1	0	0	0	0	1	0	0	0	4933	478	17	4	13	4	ECM1	1	150480696	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2476097	150480696	98769925	18	51672											
HRNR	388697	broad.mit.edu	37	chr1	152188242	152188242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgcccagaaccagaccCatgtcggccacggctagggc	10	4	12	15	2	0	3	0	0	0	3	1	3	0	3	4	3	2	1	4	3	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:152188242C>A	ENST00000368801.2	-	3	5938	c.5863G>T	c.(5863-5865)Ggg>Tgg	p.G1955W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1955					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAACCAGACCCATGTCGGCCA	0.617													11	1054					0.00621372	0.00912013	1	0	A	152188242	C	A	152188242	3	1	292	1	0	0	0	0	1	0	0	0	7409	594	21	4	2693	4	HRNR	1	152188242	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1707546	152188242	97062379	19	51673											
FLG	2312	broad.mit.edu	37	chr1	152275869	152275869	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcctgagtggaagcttcAtggtgacgcgaccctgagtg	8	9	14	10	2	2	3	2	3	0	0	2	5	2	4	2	2	2	1	2	2	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:152275869A>T	ENST00000368799.1	-	3	11528	c.11493T>A	c.(11491-11493)caT>caA	p.H3831Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3831	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAAGCTTCATGGTGACGCG	0.587									Ichthyosis				100	340					0	0	0	0	T	152275869	A	T	152275869	3	4	292	1	0	0	0	0	1	0	0	0	5967	214	8	5	696	5	FLG	1	152275869	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	87627	152275869	96974752	20	51674											
S100A7	6278	broad.mit.edu	37	chr1	153430420	153430420	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctttttctcaaagacatcGgcgaggtaatttgtgccctt	8	15	8	10	2	1	1	1	0	1	1	4	2	2	1	2	2	1	1	2	2	2	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:153430420G>T	ENST00000368723.3	-	3	278	c.168C>A	c.(166-168)gcC>gcA	p.A56A	S100A7_ENST00000368722.1_Silent_p.A56A	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	56	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAAGACATCGGCGAGGTAAT	0.413													19	51					3.51602e-12	6.33009e-12	1	0	T	153430420	G	T	153430420	2	4	292	1	0	0	0	0	0	0	0	1	13868	1103	39	3		3	S100A7	1	153430420	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1154551	153430420	95820201	21	51675											
FMO3	2328	broad.mit.edu	37	chr1	171077253	171077253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaggcaaatgcttccacaGcagggactataaagaaccag	17	6	9	9	0	0	1	0	0	0	1	1	2	1	2	2	2	3	3	2	2	7	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:171077253G>T	ENST00000367755.4	+	5	629	c.518G>T	c.(517-519)aGc>aTc	p.S173I	FMO3_ENST00000538429.1_Missense_Mutation_p.S110I|FMO3_ENST00000542847.1_Missense_Mutation_p.S153I|FMO3_ENST00000392085.2_Missense_Mutation_p.S173I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	173					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCTTCCACAGCAGGGACTAT	0.438													29	57					3.73148e-12	6.70594e-12	1	0	T	171077253	G	T	171077253	3	4	292	1	0	0	0	0	1	0	0	0	6001	971	34	4	532	4	FMO3	1	171077253	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	17646833	171077253	78173368	22	51676											
FMO2	2327	broad.mit.edu	37	chr1	171168602	171168602	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaggctcagatattgctgTtgagctgagtaagaatgctg	10	12	12	7	0	2	4	2	2	0	2	2	4	2	4	0	1	3	6	0	1	3	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:171168602T>G	ENST00000441535.1	+	5	719	c.602T>G	c.(601-603)gTt>gGt	p.V201G	RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000529935.1_Intron|FMO2_ENST00000209929.7_Missense_Mutation_p.V201G|RP1-127D3.4_ENST00000445290.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	201					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GATATTGCTGTTGAGCTGAGT	0.498													15	89					0	0	0	0	G	171168602	T	G	171168602	3	3	292	1	0	0	0	0	1	0	0	0	6000	1725	60	5	616	5	FMO2	1	171168602	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	91349	171168602	78082019	23	51677											
TDRD5	163589	broad.mit.edu	37	chr1	179620116	179620116	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacatttttttgtgtgacAcatcctcaaacgaagatgtc	12	15	6	8	1	1	2	1	1	0	1	3	3	2	2	1	0	2	0	1	0	3	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:179620116A>G	ENST00000444136.1	+	12	2165	c.1915A>G	c.(1915-1917)Aca>Gca	p.T639A	TDRD5_ENST00000367614.1_Missense_Mutation_p.T639A|TDRD5_ENST00000294848.8_Missense_Mutation_p.T639A	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	639					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTGTGTGACACATCCTCAAA	0.418													23	67					0	0	0	0	G	179620116	A	G	179620116	3	3	292	1	0	0	0	0	1	0	0	0	15827	159	6	5	1957	5	TDRD5	1	179620116	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	8451514	179620116	69630505	24	51678											
PIGR	5284	broad.mit.edu	37	chr1	207105832	207105832	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgccgggctctggccacCcccacagccacggctcccac	5	5	10	21	2	1	0	0	0	1	0	2	0	2	0	6	3	2	2	6	3	0	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:207105832C>A	ENST00000356495.4	-	8	2160	c.1977G>T	c.(1975-1977)ggG>ggT	p.G659G		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	659						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCTGGCCACCCCCACAGCCA	0.647													19	82					2.35188e-11	4.17417e-11	1	0	A	207105832	C	A	207105832	2	1	292	1	0	0	0	0	0	0	0	1	11969	610	22	4		4	PIGR	1	207105832	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	27485716	207105832	42144789	25	51679											
CR2	1380	broad.mit.edu	37	chr1	207648236	207648236	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgatggcagaaaacttTctatatggaaatgaagtctc	14	11	10	6	0	2	3	0	2	2	1	3	4	2	4	0	3	1	2	0	3	6	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:207648236T>A	ENST00000367057.3	+	14	2580	c.2391T>A	c.(2389-2391)ttT>ttA	p.F797L	CR2_ENST00000367058.3_Missense_Mutation_p.F738L|CR2_ENST00000458541.2_Missense_Mutation_p.F711L|CR2_ENST00000367059.3_Missense_Mutation_p.F738L	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	870	Sushi 13.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGAAAACTTTCTATATGGAA	0.418													24	83					0	0	0	0	A	207648236	T	A	207648236	3	1	292	1	0	0	0	0	1	0	0	0	3872	1780	62	5	2445	5	CR2	1	207648236	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	542404	207648236	41602385	26	51680											
FAM71A	149647	broad.mit.edu	37	chr1	212799980	212799980	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacaccggacatcatggaGacagtgacctttgaagccca	13	7	10	11	1	1	4	1	3	0	1	1	6	1	5	3	2	1	0	3	2	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:212799980G>T	ENST00000294829.3	+	1	2192	c.1761G>T	c.(1759-1761)gaG>gaT	p.E587D	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	587										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACATCATGGAGACAGTGACCT	0.567													27	112					3.65163e-15	6.97572e-15	1	0	T	212799980	G	T	212799980	3	4	292	1	0	0	0	0	1	0	0	0	5653	933	33	2	1763	2	FAM71A	1	212799980	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	5151744	212799980	36450641	27	51681											
USH2A	7399	broad.mit.edu	37	chr1	216062110	216062110	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gagaacagctctggacttggGatcccttccggtgcccctgg	6	9	13	13	1	1	1	0	0	1	1	3	4	3	3	4	4	3	1	4	4	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:216062110G>C	ENST00000366943.2	-	41	8267	c.7881C>G	c.(7879-7881)atC>atG	p.I2627M	USH2A_ENST00000307340.3_Missense_Mutation_p.I2627M|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2627	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.I2627M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGGACTTGGGATCCCTTCCG	0.498										HNSCC(13;0.011)			17	52					0	0	0	0	C	216062110	G	C	216062110	3	2	292	1	0	0	0	0	1	0	0	0	17132	1164	41	2	7855	2	USH2A	1	216062110	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3262130	216062110	33188511	28	51682											
OBSCN	84033	broad.mit.edu	37	chr1	228554824	228554824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagccacccgctggtcacgGggctgctggaccagtttgag	6	8	15	12	2	1	2	1	2	0	0	1	3	1	3	3	4	2	4	3	4	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:228554824G>T	ENST00000570156.2	+	97	22521	c.22447G>T	c.(22447-22449)Ggg>Tgg	p.G7483W	OBSCN_ENST00000366707.4_Missense_Mutation_p.G4160W|OBSCN_ENST00000422127.1_Missense_Mutation_p.G6526W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6526	Ig-like 55.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGGTCACGGGGCTGCTGGA	0.652													4	15					3.59834e-05	5.53293e-05	1	0	T	228554824	G	T	228554824	3	4	292	1	0	0	0	0	1	0	0	0	10883	1232	43	4	21124	4	OBSCN	1	228554824	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	12492714	228554824	20695797	29	51683											
KIAA1804	84451	broad.mit.edu	37	chr1	233482322	233482322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctatgcctggatggcccccGaagtgatcaagtcttccttg	7	11	10	13	1	2	1	1	1	1	0	3	3	3	2	5	2	1	0	5	2	3	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:233482322G>A	ENST00000366624.3	+	2	1201	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	MLK4_ENST00000366623.3_Missense_Mutation_p.E314K	NM_032435.2	NP_115811.2												p.E314K(1)									GATGGCCCCCGAAGTGATCAA	0.473													5	26					0	0	0	0	A	233482322	G	A	233482322	3	1	292	1	0	0	0	0	1	0	0	0	8310	1059	37	1	946	1	KIAA1804	1	233482322	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	4927498	233482322	15768299	30	51684											
RYR2	6262	broad.mit.edu	37	chr1	237796940	237796940	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctgttacttctgtcgtatAagtaggcagaatcaaaaagc	13	12	8	8	1	3	1	1	0	2	1	4	1	3	1	0	1	2	4	0	1	7	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:237796940A>T	ENST00000366574.2	+	43	6935	c.6618A>T	c.(6616-6618)atA>atT	p.I2206I	RYR2_ENST00000542537.1_Silent_p.I2190I|RYR2_ENST00000360064.6_Silent_p.I2204I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2206	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGTCGTATAAGTAGGCAGA	0.373													49	125					0	0	0	0	T	237796940	A	T	237796940	2	4	292	1	0	0	0	0	0	0	0	1	13854	352	13	5		5	RYR2	1	237796940	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	4314618	237796940	11453681	31	51685											
KIF26B	55083	broad.mit.edu	37	chr1	245530230	245530230	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaaccgctgtgacatttGcgccactcacctgaaccagt	10	8	9	14	2	1	2	1	2	0	0	1	3	1	3	4	1	3	1	4	1	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:245530230G>C	ENST00000407071.2	+	3	1000	c.560G>C	c.(559-561)tGc>tCc	p.C187S	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	187					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTGACATTTGCGCCACTCAC	0.602													8	34					0	0	0	0	C	245530230	G	C	245530230	3	2	292	1	0	0	0	0	1	0	0	0	8346	1319	46	4	570	4	KIF26B	1	245530230	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	7733290	245530230	3720391	32	51686											
SMYD3	64754	broad.mit.edu	37	chr1	246518367	246518367	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtatttggcgacgcggCactgagagcatcgcatcagc	10	8	12	11	4	1	1	1	1	0	1	2	3	1	1	0	2	3	4	0	2	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:246518367C>A	ENST00000490107.1	-	2	233	c.17G>T	c.(16-18)tGc>tTc	p.C6F	SMYD3_ENST00000403792.3_Missense_Mutation_p.C65F|SMYD3_ENST00000541742.1_Missense_Mutation_p.C6F|SMYD3_ENST00000388985.4_Missense_Mutation_p.C65F	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	65						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GGCGACGCGGCACTGAGAGCA	0.373													11	37					1.5842e-08	2.66967e-08	1	0	A	246518367	C	A	246518367	3	1	292	1	0	0	0	0	1	0	0	0	14911	710	25	4	1136	4	SMYD3	1	246518367	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	988137	246518367	2732254	33	51687											
ZNF670	93474	broad.mit.edu	37	chr1	247200823	247200823	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctttaccacatttcttacaTtcatagggtttttctccagt	8	18	5	10	0	3	0	1	0	2	0	4	0	3	0	2	1	2	2	2	1	3	8			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:247200823T>A	ENST00000366503.2	-	4	1256	c.1098A>T	c.(1096-1098)gaA>gaT	p.E366D		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATTTCTTACATTCATAGGGTT	0.403													28	68					0	0	0	0	A	247200823	T	A	247200823	3	1	292	1	0	0	0	0	1	0	0	0	18172	1490	52	5	75	5	ZNF670	1	247200823	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	682456	247200823	2049798	34	51688											
NLRP3	114548	broad.mit.edu	37	chr1	247587342	247587342	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagacgtgtgagagcccCgtgagtcccattaagatgga	12	7	12	10	2	0	4	0	2	0	3	1	6	1	5	4	1	1	0	4	1	2	1	rs3806267		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:247587342C>T	ENST00000366497.2	+	4	1377	c.597C>T	c.(595-597)ccC>ccT	p.P199P	NLRP3_ENST00000336119.3_Silent_p.P199P|NLRP3_ENST00000366496.2_Silent_p.P199P|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.P199P|NLRP3_ENST00000391827.2_Silent_p.P199P|NLRP3_ENST00000391828.3_Silent_p.P199P	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	199					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAGAGCCCCGTGAGTCCCA	0.582													21	26					0	0	0	0	T	247587342	C	T	247587342	2	4	292	1	0	0	0	0	0	0	0	1	10548	639	23	1		1	NLRP3	1	247587342	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	386519	247587342	1663279	35	51689											
MSGN1	343930	broad.mit.edu	37	chr2	17998364	17998364	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccagagcccagagcgcGtgagctccatccggggaaac	10	3	14	14	3	0	3	0	1	0	2	2	5	2	4	4	2	5	1	4	2	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:17998364G>A	ENST00000281047.3	+	1	602	c.579G>A	c.(577-579)gcG>gcA	p.A193A		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	193					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCCAGAGCGCGTGAGCTCCAT	0.542													24	21					0	0	0	0	A	17998364	G	A	17998364	2	1	292	1	0	0	0	0	0	0	0	1	9939	1132	40	1		1	MSGN1	2	17998364	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08		17998364	225201009	36	51690											
RASGRP3	25780	broad.mit.edu	37	chr2	33740206	33740206	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaacggctaaataaccatGggatcaagtggccttgggaa	14	7	12	8	1	1	0	1	0	0	0	1	3	1	2	2	4	2	1	2	4	6	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:33740206G>C	ENST00000403687.3	+	3	743	c.3G>C	c.(1-3)atG>atC	p.M1I	RASGRP3_ENST00000407811.1_Start_Codon_SNP_p.M1I|RASGRP3_ENST00000402538.3_Start_Codon_SNP_p.M1I	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	1					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AAATAACCATGGGATCAAGTG	0.428													20	89					0	0	0	0	C	33740206	G	C	33740206	1	2	292	1	0	0	0	0	0	0	0	0	13158	1348	47	4		4	RASGRP3	2	33740206	Translation_Start_Site	SNP	G	TCGA-CV-7245-01A-11D-2012-08	15741842	33740206	209459167	37	51691											
CRIM1	51232	broad.mit.edu	37	chr2	36583743	36583743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggcgactccctcaccgAgtacgaagcgggcgtttgcg	8	7	13	13	6	1	0	1	0	0	0	2	3	2	0	2	2	3	2	2	2	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:36583743A>G	ENST00000280527.2	+	1	675	c.308A>G	c.(307-309)gAg>gGg	p.E103G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	103	IGFBP N-terminal.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCCCTCACCGAGTACGAAGCG	0.687													11	53					0	0	0	0	G	36583743	A	G	36583743	3	3	292	1	0	0	0	0	1	0	0	0	3903	304	11	5	310	5	CRIM1	2	36583743	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	2843537	36583743	206615630	38	51692											
HEATR5B	54497	broad.mit.edu	37	chr2	37235842	37235842	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccacaggcgactgagtgtTggtagttcaggttgtaccag	10	10	13	8	1	1	1	1	1	0	0	1	2	1	1	2	3	2	5	2	3	3	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:37235842T>C	ENST00000233099.5	-	28	4529	c.4434A>G	c.(4432-4434)ccA>ccG	p.P1478P	HEATR5B_ENST00000354531.2_Silent_p.P1478P	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1478							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACTGAGTGTTGGTAGTTCAG	0.413													12	79					0	0	0	0	C	37235842	T	C	37235842	2	2	292	1	0	0	0	0	0	0	0	1	7082	1799	63	5		5	HEATR5B	2	37235842	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	652099	37235842	205963531	39	51693											
EPAS1	2034	broad.mit.edu	37	chr2	46607729	46607729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagatccaatacccagtggCccccagatccaccattacat	12	7	6	16	0	0	2	0	0	0	2	2	2	2	2	6	1	2	1	6	1	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:46607729C>T	ENST00000263734.3	+	12	2428	c.1918C>T	c.(1918-1920)Ccc>Tcc	p.P640S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	640					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TACCCAGTGGCCCCCAGATCC	0.617													52	100					0	0	0	0	T	46607729	C	T	46607729	3	4	292	1	0	0	0	0	1	0	0	0	5188	739	26	4	1964	4	EPAS1	2	46607729	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	9371887	46607729	196591644	40	51694											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48874155	48874155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaccaagaaatatagaggaaCccagcaacatacctgtatca	19	6	6	10	0	1	2	1	0	0	2	1	3	1	3	3	1	5	2	3	1	9	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:48874155C>T	ENST00000394754.1	+	8	3178	c.3064C>T	c.(3064-3066)Ccc>Tcc	p.P1022S	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P1022S|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.P284S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P1022S|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.P318S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P1022S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P975S|LHCGR_ENST00000420913.3_Intron	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		975					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TATAGAGGAACCCAGCAACAT	0.413													7	25					0	0	0	0	T	48874155	C	T	48874155	3	4	292	1	0	0	0	0	1	0	0	0	15407	507	18	4	3090	4	STON1-GTF2A1L	2	48874155	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2266426	48874155	194325218	41	51695											
FSHR	2492	broad.mit.edu	37	chr2	49190015	49190015	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctataaatttgggcttgcaTttcatagcagccacacttgc	10	13	7	11	0	1	0	1	0	0	0	1	0	1	0	2	1	4	3	2	1	4	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:49190015T>A	ENST00000406846.2	-	10	2064	c.1945A>T	c.(1945-1947)Atg>Ttg	p.M649L	FSHR_ENST00000346173.3_Missense_Mutation_p.M587L|FSHR_ENST00000541117.1_Missense_Mutation_p.M385L|FSHR_ENST00000304421.4_Missense_Mutation_p.M623L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	649					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGGGCTTGCATTTCATAGCAG	0.483									Gonadal Dysgenesis, 46 XX				13	40					0	0	0	0	A	49190015	T	A	49190015	3	1	292	1	0	0	0	0	1	0	0	0	6121	1493	52	5	146	5	FSHR	2	49190015	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	315860	49190015	194009358	42	51696											
NRXN1	9378	broad.mit.edu	37	chr2	50724827	50724827	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctatgttatggaactccagCctagtatgatcacctgccat	10	13	7	11	0	2	1	1	1	1	0	3	2	3	2	4	1	3	2	4	1	5	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:50724827C>A	ENST00000404971.1	-	15	3982	c.2643G>T	c.(2641-2643)agG>agT	p.R881S	NRXN1_ENST00000401669.2_Missense_Mutation_p.R841S|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.R833S|NRXN1_ENST00000405472.3_Missense_Mutation_p.R833S|NRXN1_ENST00000406859.3_Missense_Mutation_p.R841S|NRXN1_ENST00000406316.2_Missense_Mutation_p.R841S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	841	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGAACTCCAGCCTAGTATGAT	0.388													12	46					7.93312e-07	1.27875e-06	1	0	A	50724827	C	A	50724827	3	1	292	1	0	0	0	0	1	0	0	0	10736	738	26	4	2303	4	NRXN1	2	50724827	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1534812	50724827	192474546	43	51697											
PSME4	23198	broad.mit.edu	37	chr2	54137242	54137242	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtatacaactttgtctCttccaaggacaccatacttg	11	13	5	12	0	1	0	0	0	1	0	4	1	3	1	3	1	3	1	3	1	5	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:54137242C>A	ENST00000404125.1	-	21	2597	c.2542G>T	c.(2542-2544)Gag>Tag	p.E848*	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	848					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACTTTGTCTCTTCCAAGGAC	0.333													91	105					1.09269e-41	2.30756e-41	1	0	A	54137242	C	A	54137242	4	1	292	1	0	0	0	0	0	1	0	0	12788	922	32	2	3093	2	PSME4	2	54137242	Nonsense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3412415	54137242	189062131	44	51698											
ARHGAP25	9938	broad.mit.edu	37	chr2	69043495	69043495	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcctgagctacatctgcagGtgagaggcccctggtatcaa	9	9	11	12	0	2	2	1	2	1	1	3	3	3	2	3	3	3	3	3	3	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:69043495G>T	ENST00000295381.3	+	7	1297		c.e7+1		ARHGAP25_ENST00000467265.1_Splice_Site|ARHGAP25_ENST00000409220.1_Splice_Site|ARHGAP25_ENST00000409030.3_Splice_Site|ARHGAP25_ENST00000497079.1_Splice_Site|ARHGAP25_ENST00000409202.3_Splice_Site	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ACATCTGCAGGTGAGAGGCCC	0.488													13	50					7.93312e-07	1.27875e-06	1	0	T	69043495	G	T	69043495	5	4	292	1	0	0	0	0	0	0	1	0	876	1275	44	4	948	4	ARHGAP25	2	69043495	Splice_Site	SNP	G	TCGA-CV-7245-01A-11D-2012-08	14906253	69043495	174155878	45	51699											
EXOC6B	23233	broad.mit.edu	37	chr2	72722617	72722617	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaattctttaatttggtTgtaaacttttggcacaaatt	13	18	6	4	0	1	0	0	0	1	0	1	1	1	0	0	2	1	3	0	2	6	10			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:72722617T>A	ENST00000272427.6	-	15	1625	c.1495A>T	c.(1495-1497)Aac>Tac	p.N499Y	EXOC6B_ENST00000410104.1_Missense_Mutation_p.N499Y	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	499					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TTAATTTGGTTGTAAACTTTT	0.313													3	19					0	0	0	0	A	72722617	T	A	72722617	3	1	292	1	0	0	0	0	1	0	0	0	5346	1812	63	5	972	5	EXOC6B	2	72722617	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	3679122	72722617	170476756	46	51700											
DQX1	165545	broad.mit.edu	37	chr2	74750470	74750470	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcctgagtcgatgacatgTtggatggaagggagggagaa	12	8	17	4	1	0	3	0	2	0	1	2	8	1	6	1	4	0	1	1	4	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:74750470T>A	ENST00000404568.3	-	5	1230	c.1011A>T	c.(1009-1011)caA>caT	p.Q337H	DQX1_ENST00000393951.2_Missense_Mutation_p.Q337H|DQX1_ENST00000495597.1_5'UTR	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	337	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CGATGACATGTTGGATGGAAG	0.542													50	236					0	0	0	0	A	74750470	T	A	74750470	3	1	292	1	0	0	0	0	1	0	0	0	4787	1722	60	5	1174	5	DQX1	2	74750470	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	2027853	74750470	168448903	47	51701											
LRRTM4	80059	broad.mit.edu	37	chr2	77745762	77745762	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatactcttgctctgcgccAggaatctgaaaccctgggga	9	10	10	12	1	4	1	1	1	3	0	4	3	4	3	2	3	4	1	2	3	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:77745762A>T	ENST00000409088.3	-	3	1647	c.1233T>A	c.(1231-1233)ccT>ccA	p.P411P	LRRTM4_ENST00000409282.1_Silent_p.P412P|LRRTM4_ENST00000409884.1_Silent_p.P411P|LRRTM4_ENST00000409093.1_Silent_p.P411P|LRRTM4_ENST00000409911.1_Silent_p.P412P	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	411						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCTCTGCGCCAGGAATCTGAA	0.483													12	62					0	0	0	0	T	77745762	A	T	77745762	2	4	292	1	0	0	0	0	0	0	0	1	9106	175	7	5		5	LRRTM4	2	77745762	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	2995292	77745762	165453611	48	51702											
REG1A	5967	broad.mit.edu	37	chr2	79348716	79348716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccagacagagttgccccaGgcccggatcagctgcccaga	9	4	12	16	1	1	3	1	0	0	3	1	4	1	4	5	2	3	2	5	2	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:79348716G>T	ENST00000233735.1	+	3	196	c.93G>T	c.(91-93)caG>caT	p.Q31H		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	31					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AGTTGCCCCAGGCCCGGATCA	0.517													101	219					4.18329e-38	8.76041e-38	1	0	T	79348716	G	T	79348716	3	4	292	1	0	0	0	0	1	0	0	0	13292	991	35	4	99	4	REG1A	2	79348716	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1602954	79348716	163850657	49	51703											
LRRTM1	347730	broad.mit.edu	37	chr2	80530349	80530349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaagagttgcgcgccagaCtcttgagctgattgtatccg	9	10	12	10	4	1	4	0	2	1	2	2	5	2	4	2	0	2	3	2	0	2	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:80530349C>A	ENST00000295057.3	-	2	1252	c.596G>T	c.(595-597)aGt>aTt	p.S199I	CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S199I|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	199						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGCGCCAGACTCTTGAGCTG	0.582										HNSCC(69;0.2)			33	88					3.90053e-15	7.437e-15	1	0	A	80530349	C	A	80530349	3	1	292	1	0	0	0	0	1	0	0	0	9103	565	20	4	976	4	LRRTM1	2	80530349	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1181633	80530349	162669024	50	51704											
ACTR1B	10120	broad.mit.edu	37	chr2	98275915	98275915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccgtgctccatggggtagCggatggtcagcagcccccgg	5	6	16	14	4	1	0	1	0	0	0	2	1	2	1	4	5	4	3	4	5	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:98275915C>T	ENST00000289228.5	-	4	431	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	72						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CATGGGGTAGCGGATGGTCAG	0.647													58	139					0	0	0	0	T	98275915	C	T	98275915	3	4	292	1	0	0	0	0	1	0	0	0	210	768	27	1	947	1	ACTR1B	2	98275915	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	17745566	98275915	144923458	51	51705											
INPP4A	3631	broad.mit.edu	37	chr2	99155434	99155434	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattgcgaaaggacactttGctgaaatcgggtaaacagct	13	10	10	8	2	1	1	1	1	0	0	2	3	1	2	0	2	4	3	0	2	4	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:99155434G>A	ENST00000074304.5	+	9	1053	c.660G>A	c.(658-660)ttG>ttA	p.L220L	INPP4A_ENST00000523221.1_Silent_p.L220L|INPP4A_ENST00000409016.3_Silent_p.L220L|INPP4A_ENST00000545415.1_Silent_p.L220L|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Silent_p.L220L|INPP4A_ENST00000409851.3_Silent_p.L220L	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	220					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGGACACTTTGCTGAAATCGG	0.488													7	9					0	0	0	0	A	99155434	G	A	99155434	2	1	292	1	0	0	0	0	0	0	0	1	7805	1310	46	4		4	INPP4A	2	99155434	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	879519	99155434	144043939	52	51706											
AFF3	3899	broad.mit.edu	37	chr2	100199351	100199351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaactgttgccattaggtCggctggaagaagttaagtcc	12	10	11	8	1	0	1	0	0	0	1	2	2	1	2	2	3	2	3	2	3	5	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:100199351C>A	ENST00000317233.4	-	16	2937	c.2702G>T	c.(2701-2703)cGa>cTa	p.R901L	AFF3_ENST00000409579.1_Missense_Mutation_p.R926L|AFF3_ENST00000356421.2_Missense_Mutation_p.R926L|AFF3_ENST00000409236.1_Missense_Mutation_p.R901L	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	901					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCCATTAGGTCGGCTGGAAGA	0.483													29	42					7.38237e-10	1.2763e-09	1	0	A	100199351	C	A	100199351	3	1	292	1	0	0	0	0	1	0	0	0	358	884	31	3	1014	3	AFF3	2	100199351	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1043917	100199351	143000022	53	51707											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105889341	105889341	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggactcggtataaatcaGatttctggagcagccgccgc	10	9	12	10	3	2	1	1	0	1	1	3	3	2	3	2	3	2	2	2	3	3	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:105889341G>C	ENST00000393359.2	-	10	2369	c.1943C>G	c.(1942-1944)tCt>tGt	p.S648C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.S648C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	648					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GTATAAATCAGATTTCTGGAG	0.557													19	46					0	0	0	0	C	105889341	G	C	105889341	3	2	292	1	0	0	0	0	1	0	0	0	15918	942	33	2	651	2	TGFBRAP1	2	105889341	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	5689990	105889341	137310032	54	51708											
FBLN7	129804	broad.mit.edu	37	chr2	112942839	112942839	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccacatgcatcaacacCggtggaagcttccagtgtgt	10	8	12	11	1	1	0	1	0	0	0	2	2	2	2	3	3	3	2	3	3	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:112942839C>T	ENST00000331203.2	+	7	1141	c.870C>T	c.(868-870)acC>acT	p.T290T	FBLN7_ENST00000409903.1_Silent_p.T290T|FBLN7_ENST00000409450.3_Silent_p.T244T|FBLN7_ENST00000409667.3_Silent_p.T156T	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	290	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	p.T290T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCATCAACACCGGTGGAAGCT	0.582													20	89					0	0	0	0	T	112942839	C	T	112942839	2	4	292	1	0	0	0	0	0	0	0	1	5746	639	23	1		1	FBLN7	2	112942839	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	7053498	112942839	130256534	55	51709											
POLR1B	84172	broad.mit.edu	37	chr2	113316883	113316883	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattaaggtcttggcctcctAcaagattctggactttgtgt	8	16	9	8	0	2	1	0	0	2	1	3	2	3	2	2	3	1	0	2	3	4	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:113316883A>G	ENST00000263331.5	+	9	1924	c.1344A>G	c.(1342-1344)ctA>ctG	p.L448L	POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000541869.1_Silent_p.L486L|POLR1B_ENST00000537335.1_Silent_p.L237L|POLR1B_ENST00000417433.2_Silent_p.L392L|POLR1B_ENST00000409894.3_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	448					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTGGCCTCCTACAAGATTCTG	0.433													62	215					0	0	0	0	G	113316883	A	G	113316883	2	3	292	1	0	0	0	0	0	0	0	1	12282	378	14	5		5	POLR1B	2	113316883	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	374044	113316883	129882490	56	51710											
LRP1B	53353	broad.mit.edu	37	chr2	141458106	141458106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttctgccaaatatccatggGcacaagcacaagttctccgg	11	9	8	13	1	2	0	0	0	2	0	4	0	3	0	3	2	2	3	3	2	4	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:141458106G>T	ENST00000389484.3	-	41	7483	c.6512C>A	c.(6511-6513)gCc>gAc	p.A2171D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2171	EGF-like 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATCCATGGGCACAAGCACA	0.408										TSP Lung(27;0.18)			14	91					2.62699e-14	4.906e-14	1	0	T	141458106	G	T	141458106	3	4	292	1	0	0	0	0	1	0	0	0	9019	1203	42	4	7491	4	LRP1B	2	141458106	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	28141223	141458106	101741267	57	51711											
LRP1B	53353	broad.mit.edu	37	chr2	142004851	142004851	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaggtagccttccacacaaCtgcaagtgtaggatccatgt	11	11	9	10	0	0	0	0	0	0	0	2	1	2	1	3	2	3	3	3	2	5	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:142004851C>G	ENST00000389484.3	-	5	1507	c.536G>C	c.(535-537)aGt>aCt	p.S179T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	179	EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCACACAACTGCAAGTGTA	0.388										TSP Lung(27;0.18)			27	66					0	0	0	0	G	142004851	C	G	142004851	3	3	292	1	0	0	0	0	1	0	0	0	9019	565	20	4	13611	4	LRP1B	2	142004851	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	546745	142004851	101194522	58	51712											
NMI	9111	broad.mit.edu	37	chr2	152138463	152138463	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaataattaagagagtaccTggaattctttggtagcctct	14	13	8	6	0	2	1	0	0	2	1	2	3	2	2	2	2	2	2	2	2	7	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:152138463T>C	ENST00000243346.5	-	3	646	c.177_splice	c.e3+1	p.Q59_splice		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	59					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		AGAGAGTACCTGGAATTCTTT	0.284													14	53					0	0	0	0	C	152138463	T	C	152138463	5	2	292	1	0	0	0	0	0	0	1	0	10567	1594	55	5	771	5	NMI	2	152138463	Splice_Site	SNP	T	TCGA-CV-7245-01A-11D-2012-08	10133612	152138463	91060910	59	51713											
KCNJ3	3760	broad.mit.edu	37	chr2	155566132	155566132	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtctcggcagacacctgaGggtgagttccttccccttga	7	11	11	12	1	1	4	0	3	1	1	4	4	3	4	4	2	0	2	4	2	1	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:155566132G>A	ENST00000295101.2	+	2	1197	c.720G>A	c.(718-720)gaG>gaA	p.E240E	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	240					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGACACCTGAGGGTGAGTTCC	0.448													25	70					0	0	0	0	A	155566132	G	A	155566132	2	1	292	1	0	0	0	0	0	0	0	1	8105	991	35	4		4	KCNJ3	2	155566132	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3427669	155566132	87633241	60	51714											
DPP4	1803	broad.mit.edu	37	chr2	162876781	162876781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctatcccgatgacttcccagGtgccttttgtaataaatgtg	9	14	8	10	1	0	1	0	1	0	0	2	2	2	1	3	1	1	1	3	1	4	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:162876781G>T	ENST00000360534.3	-	14	1762	c.1202C>A	c.(1201-1203)aCc>aAc	p.T401N		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	401					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GACTTCCCAGGTGCCTTTTGT	0.338													14	48					4.93089e-13	9.05655e-13	1	0	T	162876781	G	T	162876781	3	4	292	1	0	0	0	0	1	0	0	0	4765	1261	44	4	1150	4	DPP4	2	162876781	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	7310649	162876781	80322592	61	51715											
SCN1A	6323	broad.mit.edu	37	chr2	166892851	166892851	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaagtggtttaatttcatCtaaaatcttttgtttcctaa	12	19	4	6	0	4	0	2	0	2	0	5	0	5	0	1	1	0	2	1	1	5	8			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:166892851C>G	ENST00000423058.2	-	16	3153	c.3136G>C	c.(3136-3138)Gat>Cat	p.D1046H	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1035H|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.D1046H|SCN1A_ENST00000409050.1_Missense_Mutation_p.D1018H|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1046						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTAATTTCATCTAAAATCTTT	0.318													26	25					0	0	0	0	G	166892851	C	G	166892851	3	3	292	1	0	0	0	0	1	0	0	0	14001	913	32	2	2937	2	SCN1A	2	166892851	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	4016070	166892851	76306522	62	51716											
XIRP2	129446	broad.mit.edu	37	chr2	168107290	168107290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcacaatagaatctactGcccgacgaacagaaaaccct	16	8	5	12	2	2	2	1	0	1	2	2	4	2	2	2	0	4	0	2	0	8	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:168107290G>T	ENST00000409195.1	+	9	9477	c.9388G>T	c.(9388-9390)Gcc>Tcc	p.A3130S	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A2908S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A3130S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2955					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						AGAATCTACTGCCCGACGAAC	0.438													41	42					1.30998e-17	2.57116e-17	1	0	T	168107290	G	T	168107290	3	4	292	1	0	0	0	0	1	0	0	0	17526	1319	46	4	9418	4	XIRP2	2	168107290	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1214439	168107290	75092083	63	51717											
LRP2	4036	broad.mit.edu	37	chr2	170028586	170028586	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcacactgccaacgaagAgggatgcagtggtgattttt	11	10	11	9	1	1	2	1	1	0	1	1	4	1	3	2	2	3	1	2	2	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:170028586A>G	ENST00000263816.3	-	58	11487	c.11202T>C	c.(11200-11202)ccT>ccC	p.P3734P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3734	LDL-receptor class A 31.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCCAACGAAGAGGGATGCAGT	0.473													41	45					0	0	0	0	G	170028586	A	G	170028586	2	3	292	1	0	0	0	0	0	0	0	1	9020	291	11	5		5	LRP2	2	170028586	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	1921296	170028586	73170787	64	51718											
TTN	7273	broad.mit.edu	37	chr2	179395060	179395060	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtctgaagaaacagttgtatCctgcaacccagtaacaatta	15	10	7	9	0	1	2	0	1	1	1	2	2	2	2	2	0	4	4	2	0	7	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179395060C>G	ENST00000589042.1	-	358	106506	c.106282G>C	c.(106282-106284)Gat>Cat	p.D35428H	TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D32860H|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D33787H|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D26555H|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26488H|TTN_ENST00000460472.2_Missense_Mutation_p.D26363H|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33787							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)			ACAGTTGTATCCTGCAACCCA	0.428													27	123					0	0	0	0	G	179395060	C	G	179395060	3	3	292	1	0	0	0	0	1	0	0	0	16831	855	30	2	1717	2	TTN	2	179395060	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	9366474	179395060	63804313	65	51719											
TTN	7273	broad.mit.edu	37	chr2	179419418	179419418	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctggaggccgccagagaagGgtgatcttctcagcagttac	9	8	14	10	1	2	2	1	1	2	1	3	4	2	3	2	3	2	3	2	3	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179419418G>T	ENST00000589042.1	-	332	88880	c.88656C>A	c.(88654-88656)acC>acA	p.T29552T	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.T26984T|TTN_ENST00000591111.1_Silent_p.T27911T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.T20679T|TTN_ENST00000359218.5_Silent_p.T20612T|TTN_ENST00000460472.2_Silent_p.T20487T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27911	Fibronectin type-III 115.						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)			GCCAGAGAAGGGTGATCTTCT	0.473													61	82					3.84483e-29	7.98481e-29	1	0	T	179419418	G	T	179419418	2	4	292	1	0	0	0	0	0	0	0	1	16831	1219	43	4		4	TTN	2	179419418	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	24358	179419418	63779955	66	51720											
TTN	7273	broad.mit.edu	37	chr2	179442239	179442239	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaattgttggtgcctcTgcaaagaaaaaaatacattt	16	11	8	6	0	1	1	0	0	1	1	1	2	1	2	1	2	3	2	1	2	6	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179442239T>C	ENST00000589042.1	-	324	69049		c.e324-2		TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			TTGGTGCCTCTGCAAAGAAAA	0.343													13	34					0	0	0	0	C	179442239	T	C	179442239	5	2	292	1	0	0	0	0	0	0	1	0	16831	1594	55	5	39312	5	TTN	2	179442239	Splice_Site	SNP	T	TCGA-CV-7245-01A-11D-2012-08	22821	179442239	63757134	67	51721											
TTN	7273	broad.mit.edu	37	chr2	179490067	179490067	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacttccccagcatcttcTaactttacatccctcagagt	9	13	5	14	0	3	1	1	0	2	1	5	2	5	2	3	1	3	1	3	1	2	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179490067T>C	ENST00000589042.1	-	241	44705	c.44481A>G	c.(44479-44481)ttA>ttG	p.L14827L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.L12259L|TTN_ENST00000591111.1_Silent_p.L13186L|TTN_ENST00000342175.6_Silent_p.L5954L|TTN_ENST00000359218.5_Silent_p.L5887L|TTN_ENST00000460472.2_Silent_p.L5762L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13186	Fibronectin type-III 7.						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)			CAGCATCTTCTAACTTTACAT	0.353													119	90					0	0	0	0	C	179490067	T	C	179490067	2	2	292	1	0	0	0	0	0	0	0	1	16831	1519	53	5		5	TTN	2	179490067	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	47828	179490067	63709306	68	51722											
TTN	7273	broad.mit.edu	37	chr2	179578835	179578835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgccagctactgtacaCtccaaggtacaggtgtctcc	8	9	12	12	0	1	0	0	0	1	0	3	0	2	0	3	4	5	3	3	4	4	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179578835C>T	ENST00000589042.1	-	92	26774	c.26550G>A	c.(26548-26550)gaG>gaA	p.E8850E	TTN_ENST00000342992.6_Silent_p.E7606E|TTN_ENST00000591111.1_Silent_p.E8533E|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8533	Ig-like 71.			A -> P (in Ref. 1; CAA62189).			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)			CTACTGTACACTCCAAGGTAC	0.388													8	36					0	0	0	0	T	179578835	C	T	179578835	2	4	292	1	0	0	0	0	0	0	0	1	16831	564	20	4		4	TTN	2	179578835	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	88768	179578835	63620538	69	51723											
TTN	7273	broad.mit.edu	37	chr2	179612696	179612696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacatcacctctgtggtCttccaaagtggcatctgtat	9	13	8	11	0	4	1	1	1	3	0	5	1	5	1	2	2	1	2	2	2	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179612696C>A	ENST00000360870.5	-	46	14653	c.14431G>T	c.(14431-14433)Gac>Tac	p.D4811Y	TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	921	Ig-like 28.						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)			CCTCTGTGGTCTTCCAAAGTG	0.483													9	52					0.000274275	0.000411002	1	0	A	179612696	C	A	179612696	3	1	292	1	0	0	0	0	1	0	0	0	16831	913	32	2	95866	2	TTN	2	179612696	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	33861	179612696	63586677	70	51724											
TTN	7273	broad.mit.edu	37	chr2	179617888	179617888	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcttgttcaatcctctcAtgcaaaattgattcaggagc	11	14	6	10	0	4	1	3	1	2	0	7	2	5	2	1	1	2	2	1	1	3	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179617888A>G	ENST00000589042.1	-	47	11498	c.11274T>C	c.(11272-11274)caT>caC	p.H3758H	TTN_ENST00000360870.5_Silent_p.H3441H|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Silent_p.H3441H|TTN_ENST00000591111.1_Silent_p.H3441H|TTN_ENST00000342175.6_Silent_p.H3587H|TTN_ENST00000359218.5_Silent_p.H3520H|TTN_ENST00000460472.2_Silent_p.H3395H|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3441							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)			CAATCCTCTCATGCAAAATTG	0.284													7	30					0	0	0	0	G	179617888	A	G	179617888	2	3	292	1	0	0	0	0	0	0	0	1	16831	214	8	5		5	TTN	2	179617888	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	5192	179617888	63581485	71	51725											
ZNF804A	91752	broad.mit.edu	37	chr2	185801353	185801353	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgaagaggttaacataacTatacataagaaaacaaattt	21	10	5	5	0	0	3	0	1	0	2	0	3	0	3	0	1	4	1	0	1	9	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:185801353T>A	ENST00000302277.6	+	4	1824	c.1230T>A	c.(1228-1230)acT>acA	p.T410T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	410						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTAACATAACTATACATAAGA	0.383													34	106					0	0	0	0	A	185801353	T	A	185801353	2	1	292	1	0	0	0	0	0	0	0	1	18263	1509	53	5		5	ZNF804A	2	185801353	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	6183465	185801353	57398020	72	51726											
ZNF804A	91752	broad.mit.edu	37	chr2	185803105	185803105	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaactgagtggctgcgttaTaattcaggaatccttaacac	12	11	8	10	1	1	1	1	1	0	0	2	2	2	2	2	2	3	2	2	2	5	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:185803105T>A	ENST00000302277.6	+	4	3576	c.2982T>A	c.(2980-2982)taT>taA	p.Y994*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	994						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGCTGCGTTATAATTCAGGAA	0.433													44	47					0	0	0	0	A	185803105	T	A	185803105	4	1	292	1	0	0	0	0	0	1	0	0	18263	1413	49	5	2996	5	ZNF804A	2	185803105	Nonsense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	1752	185803105	57396268	73	51727											
COL3A1	1281	broad.mit.edu	37	chr2	189868759	189868759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaggcaaggatgggcccCcaggtcctgcgggtaacact	8	6	13	14	1	0	0	0	0	0	0	2	1	2	1	4	5	2	2	4	5	2	1	rs112640146		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:189868759C>A	ENST00000304636.3	+	39	2883	c.2713C>A	c.(2713-2715)Cca>Aca	p.P905T	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	905	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGATGGGCCCCCAGGTCCTGC	0.527													6	27					0.00116845	0.00173533	1	0	A	189868759	C	A	189868759	3	1	292	1	0	0	0	0	1	0	0	0	3718	623	22	4	2867	4	COL3A1	2	189868759	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	4065654	189868759	53330614	74	51728											
DNAH7	56171	broad.mit.edu	37	chr2	196753557	196753557	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacttctaaatccattggcTcaaaaattagattcatttgt	14	15	4	8	0	3	1	2	0	1	1	4	1	4	1	1	1	1	1	1	1	6	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:196753557T>A	ENST00000312428.6	-	32	5295	c.5195A>T	c.(5194-5196)gAg>gTg	p.E1732V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1732	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCCATTGGCTCAAAAATTAG	0.348													10	33					0	0	0	0	A	196753557	T	A	196753557	3	1	292	1	0	0	0	0	1	0	0	0	4642	1551	54	5	7015	5	DNAH7	2	196753557	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	6884798	196753557	46445816	75	51729											
SF3B1	23451	broad.mit.edu	37	chr2	198263271	198263271	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggggtgagtctaggcagCagatctttaattggtggagt	9	12	16	4	0	2	2	0	1	2	1	2	3	2	3	0	5	1	2	0	5	2	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:198263271C>G	ENST00000335508.5	-	21	3139	c.3048G>C	c.(3046-3048)ctG>ctC	p.L1016L		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1016					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCTAGGCAGCAGATCTTTAA	0.353			Mis		myelodysplastic syndrome								31	75					0	0	0	0	G	198263271	C	G	198263271	2	3	292	1	0	0	0	0	0	0	0	1	14236	697	25	4		4	SF3B1	2	198263271	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1509714	198263271	44936102	76	51730											
BOLL	66037	broad.mit.edu	37	chr2	198646475	198646475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattcctcctacaaagatgcGattagggatcactgttccat	12	12	7	10	1	1	1	1	0	0	1	4	3	4	2	3	1	2	1	3	1	4	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:198646475G>A	ENST00000321801.7	-	2	706	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	BOLL_ENST00000433157.1_Missense_Mutation_p.R34C|BOLL_ENST00000392296.4_Missense_Mutation_p.R34C|BOLL_ENST00000282278.8_5'UTR|BOLL_ENST00000430004.1_Missense_Mutation_p.R34C	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	34	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACAAAGATGCGATTAGGGATC	0.363													27	98					0	0	0	0	A	198646475	G	A	198646475	3	1	292	1	0	0	0	0	1	0	0	0	1494	1058	37	1	791	1	BOLL	2	198646475	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	383204	198646475	44552898	77	51731											
FAM126B	285172	broad.mit.edu	37	chr2	201846100	201846100	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgccagcttgacctagccGgtcttcctgcagactgacag	7	10	10	14	2	1	3	0	2	1	1	3	3	2	3	4	1	3	2	4	1	1	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:201846100G>T	ENST00000418596.2	-	12	1673	c.1486C>A	c.(1486-1488)Cgg>Agg	p.R496R	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	496						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TGACCTAGCCGGTCTTCCTGC	0.512													4	45					0.00024832	0.000373787	1	0	T	201846100	G	T	201846100	2	4	292	1	0	0	0	0	0	0	0	1	5471	1115	39	3		3	FAM126B	2	201846100	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3199625	201846100	41353273	78	51732											
PTH2R	5746	broad.mit.edu	37	chr2	209302279	209302279	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaggtaattgtttccctGaatgggatggactcatttgt	10	15	11	5	0	1	2	1	1	0	1	2	4	2	4	1	3	0	2	1	3	4	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:209302279G>T	ENST00000272847.2	+	3	409	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	66						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTGTTTCCCTGAATGGGATGG	0.343													23	26					7.87624e-14	1.46545e-13	1	0	T	209302279	G	T	209302279	4	4	292	1	0	0	0	0	0	1	0	0	12840	1291	45	2	206	2	PTH2R	2	209302279	Nonsense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	7456179	209302279	33897094	79	51733											
VWC2L	402117	broad.mit.edu	37	chr2	215301351	215301351	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaattttagatttgttcctAgccctctccatgtgaatggt	8	17	7	9	0	1	2	0	1	1	1	3	2	2	2	3	1	1	1	3	1	4	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:215301351A>T	ENST00000312504.5	+	3	1192		c.e3-1		AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Intron|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like							extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						ATTTGTTCCTAGCCCTCTCCA	0.428													33	24					0	0	0	0	T	215301351	A	T	215301351	5	4	292	1	0	0	0	0	0	0	1	0	17340	434	15	5	395	5	VWC2L	2	215301351	Splice_Site	SNP	A	TCGA-CV-7245-01A-11D-2012-08	5999072	215301351	27898022	80	51734											
CXCR1	3577	broad.mit.edu	37	chr2	219029140	219029140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtcctcatgagggtGtctgccagcaggaccaggtt	7	9	14	11	0	2	1	1	1	1	0	3	2	3	2	4	4	2	2	4	4	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:219029140G>T	ENST00000295683.2	-	2	915	c.795C>A	c.(793-795)gaC>gaA	p.D265E		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	265					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TCATGAGGGTGTCTGCCAGCA	0.592													31	98					1.75199e-13	3.23568e-13	1	0	T	219029140	G	T	219029140	3	4	292	1	0	0	0	0	1	0	0	0	4122	1368	48	4	261	4	CXCR1	2	219029140	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3727789	219029140	24170233	81	51735											
RHBDD1	84236	broad.mit.edu	37	chr2	227731999	227731999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgaacagatttgcttgttgGgtcgaacttgtggctattca	8	14	11	8	2	1	1	1	0	0	1	2	3	1	1	1	2	3	3	1	2	3	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:227731999G>T	ENST00000392062.2	+	5	1055	c.531G>T	c.(529-531)tgG>tgT	p.W177C	RHBDD1_ENST00000341329.3_Missense_Mutation_p.W177C	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	177						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTGCTTGTTGGGTCGAACTTG	0.398													80	79					9.11151e-29	1.88833e-28	1	0	T	227731999	G	T	227731999	3	4	292	1	0	0	0	0	1	0	0	0	13399	1241	43	4	537	4	RHBDD1	2	227731999	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	8702859	227731999	15467374	82	51736											
ALPP	250	broad.mit.edu	37	chr2	233244620	233244620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccaggacatcgctacgCagctcatctccaacatggac	10	7	10	14	2	2	0	1	0	1	0	4	2	2	2	2	3	4	3	2	3	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:233244620C>A	ENST00000392027.2	+	5	900	c.631C>A	c.(631-633)Cag>Aag	p.Q211K	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	211						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CATCGCTACGCAGCTCATCTC	0.672													16	85					4.96729e-08	8.27331e-08	1	0	A	233244620	C	A	233244620	3	1	292	1	0	0	0	0	1	0	0	0	548	711	25	4	649	4	ALPP	2	233244620	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	5512621	233244620	9954753	83	51737											
ALPPL2	251	broad.mit.edu	37	chr2	233272622	233272622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccggcgcctacgcccaCacggtgaaccgcaactggta	9	4	11	17	5	0	1	0	1	0	0	0	1	0	1	5	3	4	2	5	3	4	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:233272622C>A	ENST00000295453.3	+	5	595	c.543C>A	c.(541-543)caC>caA	p.H181Q		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	181					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CCTACGCCCACACGGTGAACC	0.627													25	91					9.57634e-11	1.69064e-10	1	0	A	233272622	C	A	233272622	3	1	292	1	0	0	0	0	1	0	0	0	549	477	17	4	561	4	ALPPL2	2	233272622	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	28002	233272622	9926751	84	51738											
INPP5D	3635	broad.mit.edu	37	chr2	234112790	234112790	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcccagtgacctggggaaGaacgcaggggacacgctgcc	10	3	16	12	2	0	2	0	1	0	1	0	4	0	4	3	5	2	2	3	5	2	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:234112790G>C	ENST00000359570.5	+	28	2958	c.2958G>C	c.(2956-2958)aaG>aaC	p.986_986insN	INPP5D_ENST00000455936.2_Missense_Mutation_p.750_750insN|INPP5D_ENST00000450745.1_Missense_Mutation_p.750_750insN			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		ACCTGGGGAAGAACGCAGGGG	0.597													4	11					0	0	0	0	C	234112790	G	C	234112790	3	2	292	1	0	0	0	0	1	0	0	0	7809	933	33	2	2604	2	INPP5D	2	234112790	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	840168	234112790	9086583	85	51739											
TRPM8	79054	broad.mit.edu	37	chr2	234862641	234862641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaattgtgagcaatgcCatctcctacgctctatacaa	13	11	7	10	1	2	2	0	2	2	0	3	3	2	2	2	0	4	2	2	0	6	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:234862641C>T	ENST00000324695.4	+	10	1261	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	TRPM8_ENST00000433712.2_Silent_p.A95A|AC005538.5_ENST00000455991.1_RNA	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	407						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGAGCAATGCCATCTCCTACG	0.368													24	8					0	0	0	0	T	234862641	C	T	234862641	2	4	292	1	0	0	0	0	0	0	0	1	16687	581	21	4		4	TRPM8	2	234862641	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	749851	234862641	8336732	86	51740											
ING5	84289	broad.mit.edu	37	chr2	242648716	242648716	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccagcgcgtggagcgcctGcagaagatccagaacgccta	11	4	13	13	4	0	3	0	0	0	3	1	5	1	4	4	1	4	1	4	1	3	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:242648716G>T	ENST00000313552.6	+	3	221	c.195G>T	c.(193-195)ctG>ctT	p.L65L	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Silent_p.L65L	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	65					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TGGAGCGCCTGCAGAAGATCC	0.567													58	206					4.1673e-28	8.58327e-28	1	0	T	242648716	G	T	242648716	2	4	292	1	0	0	0	0	0	0	0	1	7792	1306	46	4		4	ING5	2	242648716	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	7786075	242648716	550657	87	51741											
CHL1	10752	broad.mit.edu	37	chr3	367721	367721	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtattttcaaattgaatgTgaagctaaaggaaatccaga	17	11	9	4	0	1	3	1	2	0	1	2	5	2	4	1	1	1	2	1	1	7	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:367721T>A	ENST00000256509.2	+	4	813	c.171T>A	c.(169-171)tgT>tgA	p.C57*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.C57*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	57	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAATTGAATGTGAAGCTAAAG	0.348													18	16					0	0	0	0	A	367721	T	A	367721	4	1	292	1	0	0	0	0	0	1	0	0	3378	1702	59	5	177	5	CHL1	3	367721	Nonsense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08		367721	197654709	88	51742											
CHL1	10752	broad.mit.edu	37	chr3	433478	433478	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatcttttgcaatatcagaTaagtaagtagaaatttgaat	16	15	6	4	0	2	3	1	1	1	2	2	3	2	3	0	0	1	3	0	0	8	8			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:433478T>A	ENST00000256509.2	+	23	3554	c.2912T>A	c.(2911-2913)aTa>aAa	p.I971K	CHL1_ENST00000397491.2_Missense_Mutation_p.I955K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	955	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAATATCAGATAAGTAAGTAG	0.333													9	24					0	0	0	0	A	433478	T	A	433478	3	1	292	1	0	0	0	0	1	0	0	0	3378	1406	49	5	2994	5	CHL1	3	433478	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	65757	433478	197588952	89	51743											
LRRN1	57633	broad.mit.edu	37	chr3	3886778	3886778	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcaagaactctacatcaaCcacaaccaaattagcactat	17	9	2	13	0	3	1	2	0	1	1	3	1	3	1	2	0	5	1	2	0	8	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:3886778C>G	ENST00000319331.3	+	2	1214	c.453C>G	c.(451-453)aaC>aaG	p.N151K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	151						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCTACATCAACCACAACCAAA	0.398													10	29					0	0	0	0	G	3886778	C	G	3886778	3	3	292	1	0	0	0	0	1	0	0	0	9098	506	18	4	455	4	LRRN1	3	3886778	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3453300	3886778	194135652	90	51744											
SLC6A11	6538	broad.mit.edu	37	chr3	10960130	10960130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacccattgctgaggtggCagagtcaggtaagttcgcca	9	9	14	9	1	1	2	1	1	0	1	2	2	1	2	2	4	2	5	2	4	2	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:10960130C>T	ENST00000254488.2	+	8	1178	c.1112C>T	c.(1111-1113)gCa>gTa	p.A371V		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	371					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCTGAGGTGGCAGAGTCAGGT	0.567													17	8					0	0	0	0	T	10960130	C	T	10960130	3	4	292	1	0	0	0	0	1	0	0	0	14762	710	25	4	1142	4	SLC6A11	3	10960130	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	7073352	10960130	187062300	91	51745											
KCNH8	131096	broad.mit.edu	37	chr3	19554594	19554594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaggggatcttcttcgCgcaacaagaaggttggaagc	12	7	13	9	2	2	1	0	0	2	1	3	3	2	3	0	4	2	3	0	4	5	3	rs138619397		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:19554594C>T	ENST00000328405.2	+	13	2478	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	738						integral to membrane	two-component sensor activity	p.R738G(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATCTTCTTCGCGCAACAAGAA	0.552													15	48					0	0	0	0	T	19554594	C	T	19554594	3	4	292	1	0	0	0	0	1	0	0	0	8091	768	27	1	2262	1	KCNH8	3	19554594	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	8594464	19554594	178467836	92	51746											
ZCWPW2	152098	broad.mit.edu	37	chr3	28562532	28562532	+	Frame_Shift_Del	DEL	G	G	-																															gagctggagcaaatgctgcaGcaagcactgcaacccacagc																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:28562532delG	ENST00000383768.2	+	9	1022	c.834delG	c.(832-834)cafs	p.Q279fs	ZCWPW2_ENST00000421010.1_Frame_Shift_Del_p.Q279fs			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	279							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AAATGCTGCAGCAAGCACTGC	0.373													16	19	---	---	---	---					-	28562532	G	-	28562532	7	5	292	1	0	1	0	1	0	0	0	0	17693	962	34	0	860	0	ZCWPW2	3	28562532	Frame_Shift_Del	DEL	G	TCGA-CV-7245-01A-11D-2012-08	9007938	28562532	169459898	93	51747											
TRIM71	131405	broad.mit.edu	37	chr3	32932010	32932010	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccgagaccggatgctGgcccaggtgcaggagctgaa	8	5	16	12	2	0	2	0	1	0	1	0	5	0	4	3	5	3	3	3	5	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:32932010G>T	ENST00000383763.4	+	4	1377	c.1314G>T	c.(1312-1314)ctG>ctT	p.L438L		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	438					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCGGATGCTGGCCCAGGTGC	0.617													47	22					3.76604e-16	7.24962e-16	1	0	T	32932010	G	T	32932010	2	4	292	1	0	0	0	0	0	0	0	1	16639	1335	47	4		4	TRIM71	3	32932010	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	4369478	32932010	165090420	94	51748											
SCN10A	6336	broad.mit.edu	37	chr3	38793848	38793848	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggccagcacccccaccCagcagcagagagccccgatg	9	3	11	18	1	0	1	0	0	0	1	0	3	0	1	6	1	5	4	6	1	0	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:38793848C>G	ENST00000449082.2	-	11	1616	c.1617G>C	c.(1615-1617)ctG>ctC	p.L539L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	539					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACCCCCACCCAGCAGCAGAG	0.607													24	20					0	0	0	0	G	38793848	C	G	38793848	2	3	292	1	0	0	0	0	0	0	0	1	13999	581	21	4		4	SCN10A	3	38793848	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	5861838	38793848	159228582	95	51749											
TGM4	7047	broad.mit.edu	37	chr3	44952882	44952882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgggcatctcctcactaCagacctctgaccatgggtga	8	9	10	14	0	3	3	1	2	2	1	4	3	3	3	4	2	1	1	4	2	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:44952882C>A	ENST00000296125.4	+	13	1965	c.1897C>A	c.(1897-1899)Cag>Aag	p.Q633K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	633					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTCCTCACTACAGACCTCTGA	0.458													29	69					1.80694e-10	3.17325e-10	1	0	A	44952882	C	A	44952882	3	1	292	1	0	0	0	0	1	0	0	0	15926	479	17	4	1947	4	TGM4	3	44952882	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	6159034	44952882	153069548	96	51750											
GLYCTK	132158	broad.mit.edu	37	chr3	52325847	52325847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactagactgctggcagcccGtggagccaccatccaggagt	9	6	12	14	1	0	1	0	0	0	1	1	3	1	3	4	3	3	2	4	3	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:52325847G>T	ENST00000436784.2	+	4	674	c.614G>T	c.(613-615)cGt>cTt	p.R205L	GLYCTK_ENST00000471180.1_Missense_Mutation_p.R78L|GLYCTK_ENST00000305690.8_Missense_Mutation_p.R205L|GLYCTK_ENST00000473032.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000354773.4_Intron|GLYCTK_ENST00000461183.1_Missense_Mutation_p.R121L|GLYCTK_ENST00000477382.1_Intron			Q8IVS8	GLCTK_HUMAN	glycerate kinase	205					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CTGGCAGCCCGTGGAGCCACC	0.622											OREG0015611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	41					2.42023e-17	4.70418e-17	1	0	T	52325847	G	T	52325847	3	4	292	1	0	0	0	0	1	0	0	0	6533	1145	40	3	624	3	GLYCTK	3	52325847	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	7372965	52325847	145696583	97	51751											
ZPLD1	131368	broad.mit.edu	37	chr3	102196426	102196426	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaagggacccacaagtttAgtgttgaatggcataagaaa	16	8	12	5	0	0	2	0	1	0	1	0	4	0	4	1	3	0	3	1	3	6	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:102196426A>G	ENST00000306176.1	+	11	1360	c.1260A>G	c.(1258-1260)ttA>ttG	p.L420L	ZPLD1_ENST00000466937.1_Silent_p.L404L|ZPLD1_ENST00000491959.1_Silent_p.L404L	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	404						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CCACAAGTTTAGTGTTGAATG	0.473													38	112					0	0	0	0	G	102196426	A	G	102196426	2	3	292	1	0	0	0	0	0	0	0	1	18314	417	15	5		5	ZPLD1	3	102196426	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	49870579	102196426	95826004	98	51752											
PVRL3	25945	broad.mit.edu	37	chr3	110837676	110837676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttccaaatgaaacggcaAcgattatcagccagtacaag	15	9	7	10	2	1	1	1	1	0	0	2	2	2	1	2	1	4	2	2	1	6	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:110837676A>G	ENST00000485303.1	+	3	951	c.676A>G	c.(676-678)Acg>Gcg	p.T226A	PVRL3_ENST00000319792.3_Missense_Mutation_p.T226A|PVRL3_ENST00000493615.1_Missense_Mutation_p.T203A	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	226	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGAAACGGCAACGATTATCAG	0.433													10	58					0	0	0	0	G	110837676	A	G	110837676	3	3	292	1	0	0	0	0	1	0	0	0	12923	43	2	5	686	5	PVRL3	3	110837676	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	8641250	110837676	87184754	99	51753											
PVRL3	25945	broad.mit.edu	37	chr3	110837725	110837725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccagatttgctagaggaaGgcgaattacttgtgttgtaa	13	12	11	5	1	0	2	0	0	0	2	0	4	0	3	1	2	3	3	1	2	6	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:110837725G>T	ENST00000485303.1	+	3	1000	c.725G>T	c.(724-726)aGg>aTg	p.R242M	PVRL3_ENST00000319792.3_Missense_Mutation_p.R242M|PVRL3_ENST00000493615.1_Missense_Mutation_p.R219M	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	242	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GCTAGAGGAAGGCGAATTACT	0.373													14	59					7.93312e-07	1.27875e-06	1	0	T	110837725	G	T	110837725	3	4	292	1	0	0	0	0	1	0	0	0	12923	1000	35	4	735	4	PVRL3	3	110837725	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	49	110837725	87184705	100	51754											
KIAA1407	57577	broad.mit.edu	37	chr3	113724674	113724674	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtcttgtgctgcttatTgccaggtgcactcagagaga	8	11	13	9	0	2	2	1	0	1	2	2	3	2	2	1	2	4	3	1	2	1	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:113724674T>G	ENST00000295878.3	-	10	1695	c.1549A>C	c.(1549-1551)Aat>Cat	p.N517H	KIAA1407_ENST00000545063.1_Missense_Mutation_p.N348H	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	517										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGCTGCTTATTGCCAGGTGCA	0.542													46	217					0	0	0	0	G	113724674	T	G	113724674	3	3	292	1	0	0	0	0	1	0	0	0	8280	1812	63	5	1293	5	KIAA1407	3	113724674	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	2886949	113724674	84297756	101	51755											
LSAMP	4045	broad.mit.edu	37	chr3	115560725	115560725	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggcattggtgacccccaGcttgttggcagccacacagg	7	8	13	13	0	0	1	0	1	0	0	0	1	0	1	3	4	2	5	3	4	0	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:115560725G>C	ENST00000490035.1	-	6	1385	c.886C>G	c.(886-888)Ctg>Gtg	p.L296V	LSAMP_ENST00000539563.1_Missense_Mutation_p.L293V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	296	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GTGACCCCCAGCTTGTTGGCA	0.502													12	91					0	0	0	0	C	115560725	G	C	115560725	3	2	292	1	0	0	0	0	1	0	0	0	9112	962	34	4	138	4	LSAMP	3	115560725	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1836051	115560725	82461705	102	51756											
MYLK	4638	broad.mit.edu	37	chr3	123471326	123471326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagcaggaagcggcccccGctggtgatgggttgcccgtt	5	8	15	13	3	0	1	0	1	0	0	1	2	1	2	4	4	3	4	4	4	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:123471326G>T	ENST00000360772.3	-	6	603	c.225C>A	c.(223-225)agC>agA	p.S75R	MYLK_ENST00000346322.5_Missense_Mutation_p.S75R|MYLK_ENST00000360304.3_Missense_Mutation_p.S75R|MYLK_ENST00000359169.1_Missense_Mutation_p.S75R|MYLK_ENST00000475616.1_Missense_Mutation_p.S75R			Q15746	MYLK_HUMAN	myosin light chain kinase	75	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCGGCCCCCGCTGGTGATGG	0.552													24	28					5.45024e-15	1.0372e-14	1	0	T	123471326	G	T	123471326	3	4	292	1	0	0	0	0	1	0	0	0	10126	1078	38	3	5639	3	MYLK	3	123471326	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	7910601	123471326	74551104	103	51757											
RAB7A	7879	broad.mit.edu	37	chr3	128514247	128514247	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgttgctgaaggttatcAtcctgggagattctgggtaa	10	13	13	5	0	2	2	1	1	1	1	3	3	3	2	1	3	1	4	1	3	4	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:128514247A>T	ENST00000265062.3	+	2	283	c.37A>T	c.(37-39)Atc>Ttc	p.I13F	RAB7A_ENST00000482525.1_Missense_Mutation_p.I13F|RAB7A_ENST00000485280.1_Missense_Mutation_p.I13F	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	13					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		GAAGGTTATCATCCTGGGAGA	0.458											OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	48					0	0	0	0	T	128514247	A	T	128514247	3	4	292	1	0	0	0	0	1	0	0	0	13036	217	8	5	39	5	RAB7A	3	128514247	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	5042921	128514247	69508183	104	51758											
DZIP1L	199221	broad.mit.edu	37	chr3	137803000	137803000	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctagcttgttcctgcagctgGgcacggagggtgctgatctg	5	11	15	10	1	1	1	0	1	1	0	2	2	2	2	1	3	4	6	1	3	1	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:137803000G>A	ENST00000327532.2	-	8	1520	c.1158C>T	c.(1156-1158)gcC>gcT	p.A386A	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Silent_p.A386A	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	386						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCTGCAGCTGGGCACGGAGGG	0.607													25	132					0	0	0	0	A	137803000	G	A	137803000	2	1	292	1	0	0	0	0	0	0	0	1	4900	1219	43	4		4	DZIP1L	3	137803000	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	9288753	137803000	60219430	105	51759											
PLSCR4	57088	broad.mit.edu	37	chr3	145913025	145913025	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gataacaaaccattccacttCcggataatactgccgatgtt	13	11	6	11	2	0	0	0	0	0	0	2	3	2	1	4	1	4	1	4	1	4	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:145913025C>T	ENST00000354952.2	-	8	1071	c.831G>A	c.(829-831)cgG>cgA	p.R277R	PLSCR4_ENST00000446574.2_Silent_p.R277R|PLSCR4_ENST00000383083.2_Silent_p.R187R|PLSCR4_ENST00000493382.1_Silent_p.R277R|PLSCR4_ENST00000433593.2_Silent_p.R172R	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	277					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CATTCCACTTCCGGATAATAC	0.413													7	78					0	0	0	0	T	145913025	C	T	145913025	2	4	292	1	0	0	0	0	0	0	0	1	12184	842	30	2		2	PLSCR4	3	145913025	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	8110025	145913025	52109405	106	51760											
ZIC4	84107	broad.mit.edu	37	chr3	147114155	147114155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgcaggagtccattcaaagGacggctgggggaggcctggg	9	5	18	9	2	1	0	1	0	0	0	2	3	2	3	2	7	0	2	2	7	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:147114155G>A	ENST00000383075.3	-	3	684	c.172C>T	c.(172-174)Cct>Tct	p.P58S	ZIC4_ENST00000425731.3_Missense_Mutation_p.P96S|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.P108S|ZIC4_ENST00000473123.1_Missense_Mutation_p.P58S|ZIC4_ENST00000484399.1_Missense_Mutation_p.P58S	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	58						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CCATTCAAAGGACGGCTGGGG	0.726													12	39					0	0	0	0	A	147114155	G	A	147114155	3	1	292	1	0	0	0	0	1	0	0	0	17776	1174	41	2	844	2	ZIC4	3	147114155	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1201130	147114155	50908275	107	51761											
VEPH1	79674	broad.mit.edu	37	chr3	157082158	157082158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactatatcttctgatagagCcaggggtattgctccctgca	9	12	10	10	0	2	2	0	1	2	1	3	3	3	2	2	2	3	3	2	2	4	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:157082158C>A	ENST00000362010.2	-	8	1578	c.1271G>T	c.(1270-1272)gGc>gTc	p.G424V	VEPH1_ENST00000392832.2_Missense_Mutation_p.G424V|VEPH1_ENST00000392833.2_Missense_Mutation_p.G424V|VEPH1_ENST00000543418.1_Missense_Mutation_p.G424V|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	424						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCTGATAGAGCCAGGGGTATT	0.348													22	106					7.45023e-12	1.33411e-11	1	0	A	157082158	C	A	157082158	3	1	292	1	0	0	0	0	1	0	0	0	17250	739	26	4	1258	4	VEPH1	3	157082158	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	9968003	157082158	40940272	108	51762											
SHOX2	6474	broad.mit.edu	37	chr3	157823782	157823782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcactttctggtcaaaaGacttggagacgaacgccgta	11	10	9	11	3	3	2	2	0	1	2	3	4	3	2	2	2	1	1	2	2	4	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:157823782G>T	ENST00000389589.4	-	1	167	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	SHOX2_ENST00000483851.2_Missense_Mutation_p.S11Y|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000425436.3_Missense_Mutation_p.S11Y|RSRC1_ENST00000480820.1_5'UTR	NM_003030.4	NP_003021.3	O60902	SHOX2_HUMAN	short stature homeobox 2	11					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTGGTCAAAAGACTTGGAGAC	0.617													15	62					1.3612e-06	2.16969e-06	1	0	T	157823782	G	T	157823782	3	4	292	1	0	0	0	0	1	0	0	0	14377	942	33	2	1059	2	SHOX2	3	157823782	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	741624	157823782	40198648	109	51763											
WDR49	151790	broad.mit.edu	37	chr3	167196746	167196746	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgatgcagaatttcctTgggaaacaggtttttctcat	10	16	8	7	0	2	2	2	1	1	1	4	3	3	3	1	2	2	2	1	2	2	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:167196746T>G	ENST00000308378.3	-	15	2319	c.2014A>C	c.(2014-2016)Aag>Cag	p.K672Q	WDR49_ENST00000476376.1_Missense_Mutation_p.K497Q|WDR49_ENST00000479765.1_3'UTR|WDR49_ENST00000453925.2_Missense_Mutation_p.K637Q|SERPINI2_ENST00000476257.1_5'UTR	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	672										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGAATTTCCTTGGGAAACAGG	0.308													22	46					0	0	0	0	G	167196746	T	G	167196746	3	3	292	1	0	0	0	0	1	0	0	0	17398	1821	63	5	83	5	WDR49	3	167196746	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	9372964	167196746	30825684	110	51764											
WDR49	151790	broad.mit.edu	37	chr3	167250747	167250747	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctattgttccatagaacaAtttctccatcataactccct	11	15	3	12	0	2	1	1	0	1	1	5	1	4	1	3	0	3	2	3	0	5	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:167250747A>T	ENST00000308378.3	-	8	1222	c.917T>A	c.(916-918)aTt>aAt	p.I306N	WDR49_ENST00000476376.1_Missense_Mutation_p.I131N|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.I370N	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	306										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CCATAGAACAATTTCTCCATC	0.373													12	54					0	0	0	0	T	167250747	A	T	167250747	3	4	292	1	0	0	0	0	1	0	0	0	17398	101	4	5	1208	5	WDR49	3	167250747	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	54001	167250747	30771683	111	51765											
LRRC34	151827	broad.mit.edu	37	chr3	169514002	169514002	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatataaaaccatactaacGctttaagactcctgttgtgt	15	13	5	8	1	0	1	0	0	0	1	1	1	1	1	2	0	3	2	2	0	7	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:169514002G>C	ENST00000522526.2	-	8	1405	c.968_splice	c.e8+1	p.A323_splice	LRRC34_ENST00000446859.1_Splice_Site_p.A355_splice|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000316515.7_Splice_Site_p.A310_splice|LRRC34_ENST00000522830.1_Splice_Site_p.A294_splice			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	310										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CCATACTAACGCTTTAAGACT	0.303													46	50					0	0	0	0	C	169514002	G	C	169514002	5	2	292	1	0	0	0	0	0	0	1	0	9053	1101	38	3	364	3	LRRC34	3	169514002	Splice_Site	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2263255	169514002	28508428	112	51766											
TNIK	23043	broad.mit.edu	37	chr3	170789099	170789099	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaatcaccaaaaatttgatCctttcatatttaactgtaat	15	15	3	8	0	2	1	2	1	0	0	3	1	3	1	2	0	1	2	2	0	6	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:170789099C>T	ENST00000436636.2	-	29	3806	c.3462G>A	c.(3460-3462)agG>agA	p.R1154R	TNIK_ENST00000341852.6_Silent_p.R1070R|TNIK_ENST00000470834.1_Silent_p.R1117R|TNIK_ENST00000284483.8_Silent_p.R1146R|TNIK_ENST00000357327.5_Silent_p.R1125R|TNIK_ENST00000538048.1_Silent_p.R1106R|TNIK_ENST00000488470.1_Silent_p.R1099R|TNIK_ENST00000369326.5_Silent_p.R1132R|TNIK_ENST00000460047.1_Silent_p.R1091R|TNIK_ENST00000475336.1_Silent_p.R1062R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1154	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AAAATTTGATCCTTTCATATT	0.294													11	17					0	0	0	0	T	170789099	C	T	170789099	2	4	292	1	0	0	0	0	0	0	0	1	16407	854	30	2		2	TNIK	3	170789099	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1275097	170789099	27233331	113	51767											
SPATA16	83893	broad.mit.edu	37	chr3	172835472	172835472	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggaacaagctgatcatgaTagatcctattcactgcattc	12	13	7	9	0	2	3	2	2	0	1	4	4	3	4	1	1	3	2	1	1	4	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:172835472T>C	ENST00000351008.3	-	2	233	c.50A>G	c.(49-51)tAt>tGt	p.Y17C		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	17					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGATCATGATAGATCCTATT	0.433													104	160					0	0	0	0	C	172835472	T	C	172835472	3	2	292	1	0	0	0	0	1	0	0	0	15091	1406	49	5	1699	5	SPATA16	3	172835472	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	2046373	172835472	25186958	114	51768											
MFN1	55669	broad.mit.edu	37	chr3	179107824	179107824	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttttgctcgcctgtgccAacaagttgatattactcaaa	11	13	6	11	1	1	1	1	1	0	0	2	1	1	1	2	0	4	2	2	0	5	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:179107824A>T	ENST00000471841.1	+	17	2171	c.2045A>T	c.(2044-2046)cAa>cTa	p.Q682L	MFN1_ENST00000280653.7_Missense_Mutation_p.Q571L|MFN1_ENST00000263969.5_Missense_Mutation_p.Q682L	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	682					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CGCCTGTGCCAACAAGTTGAT	0.308													15	80					0	0	0	0	T	179107824	A	T	179107824	3	4	292	1	0	0	0	0	1	0	0	0	9592	130	5	5	2107	5	MFN1	3	179107824	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	6272352	179107824	18914606	115	51769											
EIF2B5	8893	broad.mit.edu	37	chr3	183855540	183855540	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctctgactttcttctggtGtatggggatgtcatctcaaa	7	15	10	9	1	5	1	2	1	4	0	6	2	5	2	0	3	0	2	0	3	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:183855540G>A	ENST00000273783.3	+	3	575	c.453G>A	c.(451-453)gtG>gtA	p.V151V	EIF2B5_ENST00000444495.1_Silent_p.V151V|EIF2B5_ENST00000498831.1_3'UTR	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	151					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TTCTTCTGGTGTATGGGGATG	0.473													53	95					0	0	0	0	A	183855540	G	A	183855540	2	1	292	1	0	0	0	0	0	0	0	1	5040	1364	48	4		4	EIF2B5	3	183855540	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	4747716	183855540	14166890	116	51770											
TFRC	7037	broad.mit.edu	37	chr3	195782076	195782076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgaactgaccagcgacctCtgcagctgctcgtgccactt	8	8	9	16	3	1	1	0	1	1	0	2	3	1	1	3	0	6	3	3	0	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:195782076C>T	ENST00000360110.4	-	17	1943	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	TFRC_ENST00000420415.1_Missense_Mutation_p.E511K|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E310K|TFRC_ENST00000392396.3_Missense_Mutation_p.E592K	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	592	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CCAGCGACCTCTGCAGCTGCT	0.458			T	BCL6	NHL								45	200					0	0	0	0	T	195782076	C	T	195782076	3	4	292	1	0	0	0	0	1	0	0	0	15906	922	32	2	520	2	TFRC	3	195782076	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	11926536	195782076	2240354	117	51771											
UBXN7	26043	broad.mit.edu	37	chr3	196096339	196096339	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggggaaatcccctaacttaTaaaactgtatgtatctctga	14	12	7	8	0	1	1	0	1	1	0	3	2	2	2	2	2	2	2	2	2	7	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:196096339T>C	ENST00000296328.4	-	7	733	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	UBXN7_ENST00000535858.1_Missense_Mutation_p.Y72C|UBXN7_ENST00000428095.1_Missense_Mutation_p.Y58C	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	220							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCCTAACTTATAAAACTGTAT	0.353													15	65					0	0	0	0	C	196096339	T	C	196096339	3	2	292	1	0	0	0	0	1	0	0	0	17014	1406	49	5	830	5	UBXN7	3	196096339	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	314263	196096339	1926091	118	51772											
ZNF518B	85460	broad.mit.edu	37	chr4	10445495	10445495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaaggctgtaagtctgagtCcgcctgtctcacagggcaaa	11	9	11	10	1	2	1	1	1	2	0	4	1	3	1	2	2	0	3	2	2	4	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:10445495C>A	ENST00000326756.3	-	3	2896	c.2458G>T	c.(2458-2460)Gac>Tac	p.D820Y		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	820					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGTCTGAGTCCGCCTGTCTC	0.468													21	58					2.21704e-12	4.02038e-12	1	0	A	10445495	C	A	10445495	3	1	292	1	0	0	0	0	1	0	0	0	18058	855	30	2	770	2	ZNF518B	4	10445495	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08		10445495	180708781	119	51773											
LDB2	9079	broad.mit.edu	37	chr4	16513685	16513685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaggttgtaagttttatGtctcgacatcagttcctgca	9	15	9	8	1	2	1	1	1	1	0	4	2	3	1	1	1	1	5	1	1	2	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:16513685G>A	ENST00000502640.1	-	6	806	c.658C>T	c.(658-660)Cat>Tat	p.H220Y	LDB2_ENST00000515064.1_Missense_Mutation_p.H220Y|LDB2_ENST00000304523.5_Missense_Mutation_p.H220Y|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000503178.2_Missense_Mutation_p.H96Y|LDB2_ENST00000441778.2_Missense_Mutation_p.H220Y			O43679	LDB2_HUMAN	LIM domain binding 2	220							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TAAGTTTTATGTCTCGACATC	0.443													16	24					0	0	0	0	A	16513685	G	A	16513685	3	1	292	1	0	0	0	0	1	0	0	0	8749	1377	48	4	584	4	LDB2	4	16513685	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	6068190	16513685	174640591	120	51774											
UGT2B7	7364	broad.mit.edu	37	chr4	69973976	69973976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggagcagctgttagagtgGacttcaacacaatgtcgagt	11	9	14	7	1	1	1	1	0	0	1	2	4	1	3	0	3	3	3	0	3	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:69973976G>A	ENST00000305231.7	+	5	1292	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	416					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTTAGAGTGGACTTCAACAC	0.433													38	163					0	0	0	0	A	69973976	G	A	69973976	3	1	292	1	0	0	0	0	1	0	0	0	17058	1174	41	2	1264	2	UGT2B7	4	69973976	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	53460291	69973976	121180300	121	51775											
UGT2B4	7363	broad.mit.edu	37	chr4	70346550	70346550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcgcatgacaaattcaatCcagaagactgctcgatcaag	14	8	9	10	2	2	3	2	1	0	2	4	4	3	3	1	1	1	2	1	1	4	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:70346550C>A	ENST00000305107.6	-	6	1435	c.1389G>T	c.(1387-1389)tgG>tgT	p.W463C	UGT2B4_ENST00000381096.3_Missense_Mutation_p.W327C|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	463					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAAATTCAATCCAGAAGACTG	0.448													74	131					6.72169e-28	1.3816e-27	1	0	A	70346550	C	A	70346550	3	1	292	1	0	0	0	0	1	0	0	0	17057	856	30	2	201	2	UGT2B4	4	70346550	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	372574	70346550	120807726	122	51776											
RCHY1	25898	broad.mit.edu	37	chr4	76415818	76415818	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgttctgatattctgaTggcataggagtctgtgctac	8	15	11	7	0	4	2	1	2	3	0	4	3	4	3	0	2	2	3	0	2	3	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:76415818T>C	ENST00000324439.5	-	8	1028	c.630A>G	c.(628-630)ccA>ccG	p.P210P	RCHY1_ENST00000513257.1_Silent_p.P201P|RCHY1_ENST00000380840.2_Silent_p.P170P|RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000512706.1_Silent_p.P188P	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	210					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GATATTCTGATGGCATAGGAG	0.408													7	62					0	0	0	0	C	76415818	T	C	76415818	2	2	292	1	0	0	0	0	0	0	0	1	13259	1451	51	5		5	RCHY1	4	76415818	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	6069268	76415818	114738458	123	51777											
WDFY3	23001	broad.mit.edu	37	chr4	85654614	85654614	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttcgcaccatctttttcCtcatcctgcagggcccttct	5	15	5	16	1	3	0	1	0	2	0	6	0	5	0	4	1	1	2	4	1	0	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:85654614C>G	ENST00000322366.6	-	44	7549	c.7142G>C	c.(7141-7143)aGg>aCg	p.R2381T	WDFY3_ENST00000295888.4_Missense_Mutation_p.R2381T			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2381						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATCTTTTTCCTCATCCTGCA	0.527													51	260					0	0	0	0	G	85654614	C	G	85654614	3	3	292	1	0	0	0	0	1	0	0	0	17366	681	24	4	3538	4	WDFY3	4	85654614	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	9238796	85654614	105499662	124	51778											
WDFY3	23001	broad.mit.edu	37	chr4	85657475	85657475	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacttatgcatttcttttCatgggctattaaaaaatcaa	13	16	5	7	1	3	0	2	0	1	0	4	1	3	0	0	1	1	2	0	1	6	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:85657475C>A	ENST00000322366.6	-	42	7170	c.6763G>T	c.(6763-6765)Gaa>Taa	p.E2255*	WDFY3_ENST00000295888.4_Nonsense_Mutation_p.E2255*			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2255						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATTTCTTTTCATGGGCTATT	0.353													14	25					9.31168e-06	1.45413e-05	1	0	A	85657475	C	A	85657475	4	1	292	1	0	0	0	0	0	1	0	0	17366	835	29	2	3925	2	WDFY3	4	85657475	Nonsense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2861	85657475	105496801	125	51779											
PTPN13	5783	broad.mit.edu	37	chr4	87728986	87728986	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacagacttcgactggCtcttgtgagaatgcagcagc	11	8	11	11	1	1	2	0	1	1	2	2	4	1	2	0	1	5	4	0	1	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:87728986C>G	ENST00000436978.1	+	45	7514	c.7034C>G	c.(7033-7035)gCt>gGt	p.A2345G	PTPN13_ENST00000427191.2_Missense_Mutation_p.A2321G|PTPN13_ENST00000316707.6_Missense_Mutation_p.A2149G|PTPN13_ENST00000411767.2_Missense_Mutation_p.A2340G|PTPN13_ENST00000511467.1_Missense_Mutation_p.A2345G	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2340	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTTCGACTGGCTCTTGTGAGA	0.448													24	90					0	0	0	0	G	87728986	C	G	87728986	3	3	292	1	0	0	0	0	1	0	0	0	12862	797	28	4	7208	4	PTPN13	4	87728986	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2071511	87728986	103425290	126	51780											
UNC5C	8633	broad.mit.edu	37	chr4	96222797	96222797	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccggctctttgtggtaccCgcggagctccaggccacaca	6	9	11	15	3	1	0	0	0	1	0	3	1	3	1	4	4	2	3	4	4	1	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:96222797C>A	ENST00000453304.1	-	3	798	c.450G>T	c.(448-450)gcG>gcT	p.A150A	UNC5C_ENST00000504962.1_Silent_p.A150A|UNC5C_ENST00000506749.1_Silent_p.A150A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	150	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTGTGGTACCCGCGGAGCTCC	0.502													26	24					0.000586117	0.000874371	1	0	A	96222797	C	A	96222797	2	1	292	1	0	0	0	0	0	0	0	1	17089	639	23	3		3	UNC5C	4	96222797	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	8493811	96222797	94931479	127	51781											
UNC5C	8633	broad.mit.edu	37	chr4	96469982	96469982	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccagtccgcagcgggcCgctgtcgcccgcagaccttt	5	7	12	17	5	0	1	0	0	0	1	3	1	2	1	5	1	1	3	5	1	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:96469982C>T	ENST00000453304.1	-	1	375	c.27G>A	c.(25-27)gcG>gcA	p.A9A	UNC5C_ENST00000504962.1_Silent_p.A9A|UNC5C_ENST00000506749.1_Silent_p.A9A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	9					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGCAGCGGGCCGCTGTCGCCC	0.667													60	49					0	0	0	0	T	96469982	C	T	96469982	2	4	292	1	0	0	0	0	0	0	0	1	17089	639	23	1		1	UNC5C	4	96469982	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	247185	96469982	94684294	128	51782											
ANK2	287	broad.mit.edu	37	chr4	114278239	114278239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcactcatgaaaaagacaCagagggagaagagcttgatg	17	5	13	6	0	1	6	1	2	0	4	1	7	1	6	0	2	1	2	0	2	3	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:114278239C>T	ENST00000357077.4	+	38	8518	c.8465C>T	c.(8464-8466)aCa>aTa	p.T2822I	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T2789I|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2789					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAAAAGACACAGAGGGAGAA	0.438													62	51					0	0	0	0	T	114278239	C	T	114278239	3	4	292	1	0	0	0	0	1	0	0	0	621	478	17	4	8680	4	ANK2	4	114278239	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	17808257	114278239	76876037	129	51783											
NDST3	9348	broad.mit.edu	37	chr4	118975167	118975167	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttctgcttactacctgtaCagtggctacaaacaggaaaa	14	11	7	9	0	1	0	0	0	1	0	1	1	1	1	1	2	6	3	1	2	7	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:118975167C>T	ENST00000296499.5	+	2	505	c.102C>T	c.(100-102)taC>taT	p.Y34Y	NDST3_ENST00000433996.2_Silent_p.Y34Y	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	34						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ACTACCTGTACAGTGGCTACA	0.413													23	94					0	0	0	0	T	118975167	C	T	118975167	2	4	292	1	0	0	0	0	0	0	0	1	10327	489	17	4		4	NDST3	4	118975167	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	4696928	118975167	72179109	130	51784											
NDST3	9348	broad.mit.edu	37	chr4	118975575	118975575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacaaaactagtgagaaGagtgtacagagctttcagtt	14	11	9	7	0	1	3	1	1	0	3	2	4	2	3	1	0	3	3	1	0	5	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:118975575G>T	ENST00000296499.5	+	2	913	c.510G>T	c.(508-510)aaG>aaT	p.K170N	NDST3_ENST00000433996.2_Missense_Mutation_p.K170N	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	170	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTAGTGAGAAGAGTGTACAGA	0.348													23	36					1.10923e-09	1.91109e-09	1	0	T	118975575	G	T	118975575	3	4	292	1	0	0	0	0	1	0	0	0	10327	933	33	2	512	2	NDST3	4	118975575	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	408	118975575	72178701	131	51785											
HSPA4L	22824	broad.mit.edu	37	chr4	128726265	128726265	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attagtagtatagaaattgtAggaggagcaacacgaattcc	16	10	10	5	1	0	1	0	0	0	1	1	4	1	3	1	2	2	4	1	2	8	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:128726265A>T	ENST00000296464.3	+	9	1434	c.1023A>T	c.(1021-1023)gtA>gtT	p.V341V	HSPA4L_ENST00000439123.2_Silent_p.V372V|HSPA4L_ENST00000508776.1_Silent_p.V341V|HSPA4L_ENST00000505726.1_Silent_p.V315V	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	341					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TAGAAATTGTAGGAGGAGCAA	0.328													20	15					0	0	0	0	T	128726265	A	T	128726265	2	4	292	1	0	0	0	0	0	0	0	1	7465	407	15	5		5	HSPA4L	4	128726265	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	9750690	128726265	62428011	132	51786											
RNF150	57484	broad.mit.edu	37	chr4	141847144	141847144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcttaccgggatccctaggGctttaagaatgttcatcttg	8	14	10	9	1	2	1	1	0	1	1	3	2	3	2	2	2	2	3	2	2	4	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:141847144G>T	ENST00000306799.3	-	5	1501	c.848C>A	c.(847-849)gCc>gAc	p.A283D	RNF150_ENST00000420921.2_Missense_Mutation_p.A184D|RNF150_ENST00000515673.1_Missense_Mutation_p.A325D|RNF150_ENST00000507500.1_Missense_Mutation_p.A325D|RNF150_ENST00000379512.2_Missense_Mutation_p.A184D	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	325						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GATCCCTAGGGCTTTAAGAAT	0.468													10	99					2.80697e-09	4.80304e-09	1	0	T	141847144	G	T	141847144	3	4	292	1	0	0	0	0	1	0	0	0	13536	1203	42	4	354	4	RNF150	4	141847144	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	13120879	141847144	49307132	133	51787											
DCLK2	166614	broad.mit.edu	37	chr4	151142904	151142904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaaaggtcattggtgatgGcaattttgcagtagtcaaag	12	12	13	4	0	2	1	2	1	0	0	2	2	2	2	0	4	1	3	0	4	4	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:151142904G>T	ENST00000296550.7	+	7	1962	c.1208G>T	c.(1207-1209)gGc>gTc	p.G403V	DCLK2_ENST00000506325.1_Missense_Mutation_p.G402V|DCLK2_ENST00000302176.8_Missense_Mutation_p.G420V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	403	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATTGGTGATGGCAATTTTGCA	0.338													7	29					0.000157383	0.000237977	1	0	T	151142904	G	T	151142904	3	4	292	1	0	0	0	0	1	0	0	0	4324	1203	42	4	1234	4	DCLK2	4	151142904	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	9295760	151142904	40011372	134	51788											
TMEM154	201799	broad.mit.edu	37	chr4	153565566	153565566	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagcagggaaaacttaCactttcacgttttcacttcc	12	11	7	11	1	2	0	2	0	0	0	3	2	3	1	1	1	4	3	1	1	4	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:153565566C>T	ENST00000304385.3	-	4	624		c.e4+1			NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154							integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGAAAACTTACACTTTCACGT	0.413													9	23					0	0	0	0	T	153565566	C	T	153565566	5	4	292	1	0	0	0	0	0	0	1	0	16165	492	17	4	174	4	TMEM154	4	153565566	Splice_Site	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2422662	153565566	37588710	135	51789											
DCHS2	54798	broad.mit.edu	37	chr4	155219268	155219268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagttccattgggccccaaGtccaggtcatcagctctcac	9	9	8	15	0	3	0	3	0	1	0	6	0	5	0	4	2	1	2	4	2	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:155219268G>T	ENST00000357232.3	-	18	4832	c.4833C>A	c.(4831-4833)gaC>gaA	p.D1611E		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1611	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGCCCCAAGTCCAGGTCAT	0.418													36	30					1.07637e-12	1.96973e-12	1	0	T	155219268	G	T	155219268	3	4	292	1	0	0	0	0	1	0	0	0	4320	1020	36	4	3949	4	DCHS2	4	155219268	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1653702	155219268	35935008	136	51790											
DCHS2	54798	broad.mit.edu	37	chr4	155226261	155226261	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccttacctcgaagggtgaAgacttcttgaatttctctgt	8	15	8	10	1	2	3	0	2	2	1	5	4	3	3	2	1	1	0	2	1	4	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:155226261A>G	ENST00000357232.3	-	16	4017	c.4018T>C	c.(4018-4020)Ttc>Ctc	p.F1340L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1340	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGAAGGGTGAAGACTTCTTGA	0.323													18	18					0	0	0	0	G	155226261	A	G	155226261	3	3	292	1	0	0	0	0	1	0	0	0	4320	72	3	5	4772	5	DCHS2	4	155226261	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	6993	155226261	35928015	137	51791											
MARCH1	55016	broad.mit.edu	37	chr4	164534561	164534561	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgcctggagaaacaagttAgataatttggcatcttggtt	11	14	10	6	0	1	2	0	0	1	2	1	3	1	2	1	3	2	3	1	3	4	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:164534561A>G	ENST00000339875.5	-	1	125	c.96T>C	c.(94-96)tcT>tcC	p.S32S	MARCH1_ENST00000503008.1_Intron|MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000274056.7_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	49	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAAACAAGTTAGATAATTTGG	0.438													49	35					0	0	0	0	G	164534561	A	G	164534561	2	3	292	1	0	0	0	0	0	0	0	1	9367	407	15	5		5	MARCH1	4	164534561	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	9308300	164534561	26619715	138	51792											
CLCN3	1182	broad.mit.edu	37	chr4	170608837	170608837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaaagaaagaatcagcatGggaaatgacaaaaagtttgt	21	7	9	4	0	1	3	1	1	0	2	1	4	1	4	0	1	1	2	0	1	7	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:170608837G>T	ENST00000513761.1	+	4	906	c.347G>T	c.(346-348)tGg>tTg	p.W116L	CLCN3_ENST00000360642.3_Missense_Mutation_p.W116L|CLCN3_ENST00000347613.4_Missense_Mutation_p.W116L|CLCN3_ENST00000504131.2_Missense_Mutation_p.W99L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	116					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GAATCAGCATGGGAAATGACA	0.343													12	9					0.000308642	0.00046181	1	0	T	170608837	G	T	170608837	3	4	292	1	0	0	0	0	1	0	0	0	3494	1357	47	4	357	4	CLCN3	4	170608837	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	6074276	170608837	20545439	139	51793											
GALNTL6	442117	broad.mit.edu	37	chr4	173873273	173873273	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtacaggcatctctccaCgggggacatctctgcccaga	9	7	12	13	1	2	1	0	0	2	1	5	3	3	3	2	4	2	2	2	4	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:173873273C>G	ENST00000506823.1	+	10	1892	c.1235C>G	c.(1234-1236)aCg>aGg	p.T412R	GALNTL6_ENST00000508122.1_Missense_Mutation_p.T395R	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	412						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CATCTCTCCACGGGGGACATC	0.557													14	65					0	0	0	0	G	173873273	C	G	173873273	3	3	292	1	0	0	0	0	1	0	0	0	6274	536	19	3	1269	3	GALNTL6	4	173873273	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3264436	173873273	17281003	140	51794											
VEGFC	7424	broad.mit.edu	37	chr4	177605117	177605117	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccaatatgaagggacaCaacgacacacttcttcacta	14	11	5	11	1	2	1	1	1	1	0	3	3	3	2	1	1	1	0	1	1	5	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:177605117C>G	ENST00000280193.2	-	7	1638	c.1223G>C	c.(1222-1224)tGt>tCt	p.C408S	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	408					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TGAAGGGACACAACGACACAC	0.418													43	38					0	0	0	0	G	177605117	C	G	177605117	3	3	292	1	0	0	0	0	1	0	0	0	17248	478	17	4	43	4	VEGFC	4	177605117	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3731844	177605117	13549159	141	51795											
VEGFC	7424	broad.mit.edu	37	chr4	177649124	177649124	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactcattatcaataccTgtcaagtcatagggaaatca	14	11	5	11	0	5	0	5	0	0	0	6	1	6	1	2	1	1	0	2	1	6	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:177649124T>A	ENST00000280193.2	-	3	777		c.e3-2		VEGFC_ENST00000507638.1_Splice_Site	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C						angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TATCAATACCTGTCAAGTCAT	0.413													18	45					0	0	0	0	A	177649124	T	A	177649124	5	1	292	1	0	0	0	0	0	0	1	0	17248	1594	55	5	922	5	VEGFC	4	177649124	Splice_Site	SNP	T	TCGA-CV-7245-01A-11D-2012-08	44007	177649124	13505152	142	51796											
ZFP42	132625	broad.mit.edu	37	chr4	188924027	188924027	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgggtggaagagccccCagtggggctaagcccaggca	8	4	17	12	0	0	1	0	0	0	1	0	2	0	2	4	6	2	2	4	6	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:188924027C>A	ENST00000326866.4	+	4	474	c.66C>A	c.(64-66)ccC>ccA	p.P22P	ZFP42_ENST00000509524.1_Silent_p.P22P	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	22					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAGAGCCCCCAGTGGGGCTA	0.552													16	88					3.52763e-06	5.56088e-06	1	0	A	188924027	C	A	188924027	2	1	292	1	0	0	0	0	0	0	0	1	17745	581	21	4		4	ZFP42	4	188924027	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	11274903	188924027	2230249	143	51797											
SLC6A18	348932	broad.mit.edu	37	chr5	1244767	1244767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccgggaggcggcccagccCctactggcggctgacctgga	6	4	16	15	3	0	1	0	1	0	0	0	4	0	3	5	6	2	1	5	6	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:1244767C>A	ENST00000324642.3	+	11	1664	c.1541C>A	c.(1540-1542)cCc>cAc	p.P514H		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	514					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)			CGGCCCAGCCCCTACTGGCGG	0.602													17	127					7.07596e-05	0.000107809	1	0	A	1244767	C	A	1244767	3	1	292	1	0	0	0	0	1	0	0	0	14769	623	22	4	1583	4	SLC6A18	5	1244767	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08		1244767	179670493	144	51798											
C5orf38	153571	broad.mit.edu	37	chr5	2752749	2752749	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttcagatttgtgttgtcaAaacactggggggatgattgt	9	15	12	5	0	2	2	2	1	0	1	2	3	2	3	0	3	1	1	0	3	2	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:2752749A>T	ENST00000515640.1	+	2	233	c.214A>T	c.(214-216)Aaa>Taa	p.K72*	C5orf38_ENST00000334000.3_Nonsense_Mutation_p.K72*|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000505778.1_Nonsense_Mutation_p.K72*|IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000397835.4_Nonsense_Mutation_p.K72*			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	72						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		TGTGTTGTCAAAACACTGGGG	0.507													42	169					0	0	0	0	T	2752749	A	T	2752749	4	4	292	1	0	0	0	0	0	1	0	0	2317	15	1	5	220	5	C5orf38	5	2752749	Nonsense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	1507982	2752749	178162511	145	51799											
CTNND2	1501	broad.mit.edu	37	chr5	11159792	11159792	+	Silent	SNP	C	C	T																															cctgagtgggggataatcacCgcgttggtcagtactgctag																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:11159792C>T	ENST00000304623.8	-	12	2244	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A	CTNND2_ENST00000359640.2_Silent_p.A685A|CTNND2_ENST00000458100.2_Silent_p.A252A|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.A348A|CTNND2_ENST00000511377.1_Silent_p.A594A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	685					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.A685A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGATAATCACCGCGTTGGTCA	0.522													21	169					0	0	0	0	T	11159792	C	T	11159792	2	4	292	1	0	0	0	0	0	0	0	1	4052	639	23	1		1	CTNND2	5	11159792	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	8407043	11159792	169755468	146	51800	408	2									
CTNND2	1501	broad.mit.edu	37	chr5	11159793	11159793	+	Missense_Mutation	SNP	G	G	T																															ctgagtgggggataatcaccGcgttggtcagtactgctagg																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:11159793G>T	ENST00000304623.8	-	12	2243	c.2054C>A	c.(2053-2055)gCg>gAg	p.A685E	CTNND2_ENST00000359640.2_Missense_Mutation_p.A685E|CTNND2_ENST00000458100.2_Missense_Mutation_p.A252E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.A348E|CTNND2_ENST00000511377.1_Missense_Mutation_p.A594E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	685					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.A685V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATAATCACCGCGTTGGTCAG	0.517													21	173					3.8784e-16	7.4516e-16	1	0	T	11159793	G	T	11159793	3	4	292	1	0	0	0	0	1	0	0	0	4052	1087	38	3	1667	3	CTNND2	5	11159793	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1	11159793	169755467	147	51801	408	2									
CTNND2	1501	broad.mit.edu	37	chr5	11236908	11236908	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatctgaatcacttccggCagttccgggtctctccatcc	8	11	7	15	2	3	1	1	1	2	0	8	1	7	1	4	2	1	2	4	2	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:11236908C>A	ENST00000304623.8	-	10	1845	c.1656G>T	c.(1654-1656)ctG>ctT	p.L552L	CTNND2_ENST00000359640.2_Silent_p.L552L|CTNND2_ENST00000458100.2_Silent_p.L119L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.L215L|CTNND2_ENST00000511377.1_Silent_p.L461L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	552					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCACTTCCGGCAGTTCCGGGT	0.473													42	123					2.66277e-13	4.89968e-13	1	0	A	11236908	C	A	11236908	2	1	292	1	0	0	0	0	0	0	0	1	4052	697	25	4		4	CTNND2	5	11236908	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	77115	11236908	169678352	148	51802											
DNAH5	1767	broad.mit.edu	37	chr5	13807803	13807803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttaattattactgttttgGctgttccttgttcaccaatt	7	21	5	8	0	1	0	1	0	0	0	2	0	2	0	2	1	1	4	2	1	4	10			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:13807803G>T	ENST00000265104.4	-	47	7888	c.7784C>A	c.(7783-7785)gCc>gAc	p.A2595D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2595	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TACTGTTTTGGCTGTTCCTTG	0.358									Kartagener syndrome				7	18					5.18039e-06	8.14062e-06	1	0	T	13807803	G	T	13807803	3	4	292	1	0	0	0	0	1	0	0	0	4641	1203	42	4	6222	4	DNAH5	5	13807803	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2570895	13807803	167107457	149	51803											
DNAH5	1767	broad.mit.edu	37	chr5	13839501	13839501	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttattacaagcctgtcagtgCagcctaaaaattcattctgg	12	13	7	9	0	3	0	2	0	1	0	3	0	3	0	2	1	4	1	2	1	6	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:13839501C>A	ENST00000265104.4	-	35	5950	c.5846G>T	c.(5845-5847)tGc>tTc	p.C1949F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1949	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGTCAGTGCAGCCTAAAAA	0.423									Kartagener syndrome				27	140					7.26314e-15	1.37697e-14	1	0	A	13839501	C	A	13839501	3	1	292	1	0	0	0	0	1	0	0	0	4641	710	25	4	8208	4	DNAH5	5	13839501	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	31698	13839501	167075759	150	51804											
FBXL7	23194	broad.mit.edu	37	chr5	15937116	15937116	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcttcaacctcaagcggCtcagcctcaagtcctgcgag	9	8	9	15	2	4	0	4	0	0	0	5	1	5	0	3	1	5	2	3	1	3	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:15937116C>A	ENST00000504595.1	+	4	1778	c.1297C>A	c.(1297-1299)Ctc>Atc	p.L433I	FBXL7_ENST00000329673.7_Missense_Mutation_p.L421I|FBXL7_ENST00000510662.1_Missense_Mutation_p.L386I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	433					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCTCAAGCGGCTCAGCCTCAA	0.587													5	81					3.59834e-05	5.53293e-05	1	0	A	15937116	C	A	15937116	3	1	292	1	0	0	0	0	1	0	0	0	5769	797	28	4	1311	4	FBXL7	5	15937116	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2097615	15937116	164978144	151	51805											
PRDM9	56979	broad.mit.edu	37	chr5	23522987	23522987	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagccaacaatggatactCctggctggtaagaagagcct	12	7	12	10	0	0	2	0	0	0	2	1	3	1	3	3	4	4	3	3	4	5	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:23522987C>A	ENST00000296682.3	+	8	1057	c.875C>A	c.(874-876)tCc>tAc	p.S292Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	292	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AATGGATACTCCTGGCTGGTA	0.502										HNSCC(3;0.000094)			17	141					0.000132079	0.00020032	1	0	A	23522987	C	A	23522987	3	1	292	1	0	0	0	0	1	0	0	0	12543	855	30	2	901	2	PRDM9	5	23522987	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	7585871	23522987	157392273	152	51806											
ADAMTS12	81792	broad.mit.edu	37	chr5	33684161	33684161	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagatgttaacactgtCtaaacagtaaacagaagaca	17	8	9	7	0	1	3	0	0	1	3	1	4	1	3	0	1	3	2	0	1	6	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:33684161C>A	ENST00000504830.1	-	4	970		c.e4-1		ADAMTS12_ENST00000352040.3_Splice_Site|ADAMTS12_ENST00000504582.1_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTAACACTGTCTAAACAGTAA	0.413										HNSCC(64;0.19)			7	37					2.74318e-10	4.80897e-10	1	0	A	33684161	C	A	33684161	5	1	292	1	0	0	0	0	0	0	1	0	257	927	32	2	4234	2	ADAMTS12	5	33684161	Splice_Site	SNP	C	TCGA-CV-7245-01A-11D-2012-08	10161174	33684161	147231099	153	51807											
SPEF2	79925	broad.mit.edu	37	chr5	35641597	35641597	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttaaccttctgggtgtgCagtttgatcagaatgtggcc	8	13	11	9	0	2	2	1	1	1	1	2	2	2	2	2	2	2	2	2	2	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:35641597C>T	ENST00000440995.2	+	3	226	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	SPEF2_ENST00000356031.3_Nonsense_Mutation_p.Q76*|SPEF2_ENST00000282469.6_Nonsense_Mutation_p.Q76*|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.Q76*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	76	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGGGTGTGCAGTTTGATCA	0.388													10	94					0	0	0	0	T	35641597	C	T	35641597	4	4	292	1	0	0	0	0	0	1	0	0	15125	711	25	4	236	4	SPEF2	5	35641597	Nonsense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1957436	35641597	145273663	154	51808											
RANBP3L	202151	broad.mit.edu	37	chr5	36253851	36253851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatttgggcccagagtttGctgttgaggatcagccttag	7	14	12	8	0	2	2	2	1	0	1	2	3	2	3	2	2	2	3	2	2	1	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:36253851G>T	ENST00000296604.3	-	12	1550	c.1065C>A	c.(1063-1065)agC>agA	p.S355R	RANBP3L_ENST00000502994.1_Missense_Mutation_p.S380R	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	355	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CCCAGAGTTTGCTGTTGAGGA	0.388													14	120					8.60227e-14	1.59757e-13	1	0	T	36253851	G	T	36253851	3	4	292	1	0	0	0	0	1	0	0	0	13112	1310	46	4	344	4	RANBP3L	5	36253851	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	612254	36253851	144661409	155	51809											
NUP155	9631	broad.mit.edu	37	chr5	37331833	37331833	+	Frame_Shift_Del	DEL	A	A	-																															tctcttctccatctcctcccAcattactcacaagtagatgc																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:37331833delA	ENST00000231498.3	-	14	1786	c.1583delT	c.(1582-1584)ggfs	p.V528fs	NUP155_ENST00000513532.1_Frame_Shift_Del_p.V528fs|NUP155_ENST00000381843.2_Frame_Shift_Del_p.V469fs	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	528					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCTCCTCCCACATTACTCAC	0.328													31	96	---	---	---	---					-	37331833	A	-	37331833	7	5	292	1	0	1	0	1	0	0	0	0	10827	159	6	0	2680	0	NUP155	5	37331833	Frame_Shift_Del	DEL	A	TCGA-CV-7245-01A-11D-2012-08	1077982	37331833	143583427	156	51810											
MRPS30	10884	broad.mit.edu	37	chr5	44809461	44809461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcccgagcccgaacccgaaCctgaacctgcgctggacctc	9	4	10	18	4	0	1	0	1	0	0	1	5	0	2	6	1	6	1	6	1	3	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:44809461C>T	ENST00000507110.1	+	1	435	c.397C>T	c.(397-399)Cct>Tct	p.P133S		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	133					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					cgaacccgaacctgaaccTGC	0.697													4	24					0	0	0	0	T	44809461	C	T	44809461	3	4	292	1	0	0	0	0	1	0	0	0	9910	507	18	4	399	4	MRPS30	5	44809461	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	7477628	44809461	136105799	157	51811											
MRPS30	10884	broad.mit.edu	37	chr5	44815101	44815101	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttcctttttctgctacCagctaaatactttggcactg	8	17	5	11	0	1	0	0	0	1	0	2	0	2	0	2	1	4	3	2	1	4	8			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:44815101C>T	ENST00000507110.1	+	5	1155	c.1117C>T	c.(1117-1119)Cag>Tag	p.Q373*		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	373					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TTTCTGCTACCAGCTAAATAC	0.388													27	153					0	0	0	0	T	44815101	C	T	44815101	4	4	292	1	0	0	0	0	0	1	0	0	9910	595	21	4	1135	4	MRPS30	5	44815101	Nonsense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	5640	44815101	136100159	158	51812											
MAP3K1	4214	broad.mit.edu	37	chr5	56168720	56168720	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcagcaaaccgtacagcAgcagcctttggctggatcac	12	6	10	13	1	1	0	1	0	0	0	1	1	1	1	2	2	7	6	2	2	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:56168720A>T	ENST00000399503.3	+	9	1574	c.1574A>T	c.(1573-1575)cAg>cTg	p.Q525L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	525					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACCGTACAGCAGCAGCCTTTG	0.433													20	17					0	0	0	0	T	56168720	A	T	56168720	3	4	292	1	0	0	0	0	1	0	0	0	9312	188	7	5	1608	5	MAP3K1	5	56168720	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	11353619	56168720	124746540	159	51813											
ERBB2IP	55914	broad.mit.edu	37	chr5	65349325	65349325	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaagctcatgataaaaaaGattttaacttacctgaatat	18	13	4	6	0	2	3	2	2	0	1	2	3	2	3	1	0	3	1	1	0	8	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:65349325G>C	ENST00000284037.5	+	21	2568	c.2179G>C	c.(2179-2181)Gat>Cat	p.D727H	ERBB2IP_ENST00000380943.2_Missense_Mutation_p.D727H|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.D727H|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.D727H|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.D723H|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.D727H|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.D727H|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.D727H|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.D727H|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	727					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGATAAAAAAGATTTTAACTT	0.308													22	67					0	0	0	0	C	65349325	G	C	65349325	3	2	292	1	0	0	0	0	1	0	0	0	5245	942	33	2	2253	2	ERBB2IP	5	65349325	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	9180605	65349325	115565935	160	51814											
BDP1	55814	broad.mit.edu	37	chr5	70835391	70835391	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcctcacaaggtaccaaTgatggaagcaccgaagctgc	13	8	9	11	1	1	1	1	1	0	0	2	3	2	2	3	2	4	3	3	2	5	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:70835391T>C	ENST00000358731.4	+	28	6200	c.5937T>C	c.(5935-5937)aaT>aaC	p.N1979N	BDP1_ENST00000380675.2_Silent_p.N116N	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1979					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGTACCAATGATGGAAGCA	0.348													10	23					0	0	0	0	C	70835391	T	C	70835391	2	2	292	1	0	0	0	0	0	0	0	1	1399	1461	51	5		5	BDP1	5	70835391	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	5486066	70835391	110079869	161	51815											
GPR98	84059	broad.mit.edu	37	chr5	90015959	90015959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aactggaggtgctagactagGggtgcatgttcaaaccctga	11	9	13	8	0	1	2	1	1	0	1	1	3	1	3	1	4	4	3	1	4	4	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:90015959G>C	ENST00000405460.2	+	44	9638	c.9542G>C	c.(9541-9543)gGg>gCg	p.G3181A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3181					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTAGACTAGGGGTGCATGTT	0.413													19	51					0	0	0	0	C	90015959	G	C	90015959	3	2	292	1	0	0	0	0	1	0	0	0	6771	1232	43	4	9716	4	GPR98	5	90015959	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	19180568	90015959	90899301	162	51816											
MEGF10	84466	broad.mit.edu	37	chr5	126738373	126738373	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccaggatacacaggggaaCggtaagggatgcccttgtat	11	8	14	8	1	0	0	0	0	0	0	1	3	1	3	2	5	3	2	2	5	4	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:126738373C>T	ENST00000274473.6	+	9	1183	c.917_splice	c.e9+1	p.R306_splice	MEGF10_ENST00000508365.1_Splice_Site_p.R306_splice|MEGF10_ENST00000418761.2_Splice_Site_p.R306_splice|MEGF10_ENST00000503335.2_Splice_Site_p.R306_splice	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	306	EGF-like 5.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CACAGGGGAACGGTAAGGGAT	0.478													33	26					0	0	0	0	T	126738373	C	T	126738373	5	4	292	1	0	0	0	0	0	0	1	0	9529	550	19	1	942	1	MEGF10	5	126738373	Splice_Site	SNP	C	TCGA-CV-7245-01A-11D-2012-08	36722414	126738373	54176887	163	51817											
SEC24A	10802	broad.mit.edu	37	chr5	134029560	134029560	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtctttcaaacacaactCccaactcttggagtgggagc	10	11	8	12	0	4	0	1	0	3	0	5	2	5	2	1	2	4	0	1	2	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:134029560C>A	ENST00000398844.2	+	13	2211	c.1923C>A	c.(1921-1923)ctC>ctA	p.L641L		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	641					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAACACAACTCCCAACTCTTG	0.498													15	37					1.67942e-08	2.8112e-08	1	0	A	134029560	C	A	134029560	2	1	292	1	0	0	0	0	0	0	0	1	14081	842	30	2		2	SEC24A	5	134029560	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	7291187	134029560	46885700	164	51818											
NRG2	9542	broad.mit.edu	37	chr5	139283936	139283936	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcccgcttcctcccctctGggtgcttcttgccgcggccg	0	12	10	19	4	3	0	0	0	3	0	6	0	5	0	6	2	2	2	6	2	0	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:139283936G>C	ENST00000340391.3	-	1	46	c.47C>G	c.(46-48)cCa>cGa	p.P16R	NRG2_ENST00000541337.1_Intron|NRG2_ENST00000361474.1_Intron|NRG2_ENST00000545385.1_Intron|NRG2_ENST00000358522.3_Intron|NRG2_ENST00000289409.4_Intron|NRG2_ENST00000394770.1_Intron|NRG2_ENST00000289422.7_Intron			O14511	NRG2_HUMAN	neuregulin 2	0					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCCCTCTGGGTGCTTCTT	0.716													7	20					0	0	0	0	C	139283936	G	C	139283936	3	2	292	1	0	0	0	0	1	0	0	0	10719	1363	47	4		4	NRG2	5	139283936	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	5254376	139283936	41631324	165	51819											
IK	3550	broad.mit.edu	37	chr5	140033549	140033549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagctgcagagaagagaaGacagttgatccaggagtcca	15	6	12	8	0	1	4	1	1	0	3	3	7	3	5	2	1	2	3	2	1	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140033549G>A	ENST00000417647.2	+	6	570	c.431G>A	c.(430-432)aGa>aAa	p.R144K		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	144					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAAGAGAAGACAGTTGATC	0.478													14	9					0	0	0	0	A	140033549	G	A	140033549	3	1	292	1	0	0	0	0	1	0	0	0	7661	942	33	2	453	2	IK	5	140033549	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	749613	140033549	40881711	166	51820											
PCDHA3	56145	broad.mit.edu	37	chr5	140180929	140180929	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttcgtgggccgcatcgcGcaggacctggggctggagct	5	7	16	13	4	0	0	0	0	0	0	2	2	0	2	3	5	1	4	3	5	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140180929G>T	ENST00000522353.2	+	1	147	c.147G>T	c.(145-147)gcG>gcT	p.A49A	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.A49A|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCATCGCGCAGGACCTGG	0.647													35	86					2.42023e-17	4.70418e-17	1	0	T	140180929	G	T	140180929	2	4	292	1	0	0	0	0	0	0	0	1	11596	1074	38	3		3	PCDHA3	5	140180929	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	147380	140180929	40734331	167	51821											
PCDHB2	56133	broad.mit.edu	37	chr5	140475671	140475671	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacttcgggacacccaggCtgaaaaccgagcacaacata	14	4	9	14	3	0	1	0	1	0	0	1	4	0	2	3	2	3	2	3	2	4	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140475671C>A	ENST00000194155.4	+	1	1445	c.1297C>A	c.(1297-1299)Ctg>Atg	p.L433M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		433	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACACCCAGGCTGAAAACCGA	0.557													79	51					3.00167e-28	6.1952e-28	1	0	A	140475671	C	A	140475671	3	1	292	1	0	0	0	0	1	0	0	0	11613	796	28	4	1299	4	PCDHB2	5	140475671	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	294742	140475671	40439589	168	51822											
PCDHB8	56128	broad.mit.edu	37	chr5	140558615	140558615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttttctggaaaatgcaccGttctgattcaagtgatagat	11	14	9	7	1	3	3	1	2	2	1	3	4	3	4	1	1	1	3	1	1	4	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140558615G>A	ENST00000239444.2	+	1	1245	c.1000G>A	c.(1000-1002)Gtt>Att	p.V334I		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		334	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V334I(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATGCACCGTTCTGATTCA	0.433													38	352					0	0	0	0	A	140558615	G	A	140558615	3	1	292	1	0	0	0	0	1	0	0	0	11619	1145	40	1	1002	1	PCDHB8	5	140558615	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	82944	140558615	40356645	169	51823											
PCDHB12	56124	broad.mit.edu	37	chr5	140589218	140589218	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgagtttgagcaggcttttTatgaggtgaagattctggag	9	14	14	4	0	1	5	0	4	1	1	1	6	1	6	0	3	1	3	0	3	2	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140589218T>G	ENST00000239450.2	+	1	928	c.739T>G	c.(739-741)Tat>Gat	p.Y247D	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		247	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCTTTTTATGAGGTGAA	0.502													97	56					0	0	0	0	G	140589218	T	G	140589218	3	3	292	1	0	0	0	0	1	0	0	0	11608	1754	61	5	741	5	PCDHB12	5	140589218	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	30603	140589218	40326042	170	51824											
PCDHB12	56124	broad.mit.edu	37	chr5	140590088	140590088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgggcgccacagaccacGgctccccggctttgagcagc	6	5	14	16	4	0	2	0	1	0	1	1	2	1	2	4	3	2	3	4	3	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140590088G>T	ENST00000239450.2	+	1	1798	c.1609G>T	c.(1609-1611)Ggc>Tgc	p.G537C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.G200C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		537	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G537S(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACAGACCACGGCTCCCCGGC	0.677													49	29					5.34276e-22	1.07176e-21	1	0	T	140590088	G	T	140590088	3	4	292	1	0	0	0	0	1	0	0	0	11608	1116	39	3	1611	3	PCDHB12	5	140590088	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	870	140590088	40325172	171	51825											
HMHB1	57824	broad.mit.edu	37	chr5	143200051	143200051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttttctataggttctcTgcatgtttggaagtcggaat	8	18	9	6	1	3	0	0	0	3	0	5	2	3	2	0	3	1	3	0	3	4	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:143200051T>C	ENST00000289448.2	+	2	151	c.44T>C	c.(43-45)cTg>cCg	p.L15P	CTB-57H20.1_ENST00000503323.1_RNA	NM_021182.1	NP_067005.1	O97980	HMHB1_HUMAN	histocompatibility (minor) HB-1	15	Loss of recognition by cytotoxic T lymphocyte (CTL).												Acute lymphoblastic leukemia(2;0.0236)|all_hematologic(2;0.041)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATAGGTTCTCTGCATGTTTGG	0.393													34	73					0	0	0	0	C	143200051	T	C	143200051	3	2	292	1	0	0	0	0	1	0	0	0	7291	1580	55	5	50	5	HMHB1	5	143200051	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	2609963	143200051	37715209	172	51826											
PLAC8L1	153770	broad.mit.edu	37	chr5	145477757	145477757	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacactgaagagaccggtgCtccagcccccgccagtctgg	9	5	12	15	2	1	3	0	1	1	2	2	4	2	3	5	2	2	1	5	2	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:145477757C>A	ENST00000311450.4	-	2	275	c.218G>T	c.(217-219)aGc>aTc	p.S73I		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	73										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGACCGGTGCTCCAGCCCCC	0.512													26	13					2.79863e-10	4.88906e-10	1	0	A	145477757	C	A	145477757	3	1	292	1	0	0	0	0	1	0	0	0	12088	797	28	4	327	4	PLAC8L1	5	145477757	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2277706	145477757	35437503	173	51827											
SLC36A2	153201	broad.mit.edu	37	chr5	150722462	150722462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttaccttccccagtgagCgtgattctggagccaggcgt	7	10	13	11	2	1	2	0	2	1	0	2	3	2	3	4	3	3	1	4	3	1	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:150722462C>T	ENST00000335244.4	-	4	556	c.427G>A	c.(427-429)Gct>Act	p.A143T	SLC36A2_ENST00000521967.1_Missense_Mutation_p.A143T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	143					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGTGAGCGTGATTCTGG	0.537													23	26					0	0	0	0	T	150722462	C	T	150722462	3	4	292	1	0	0	0	0	1	0	0	0	14682	768	27	1	1052	1	SLC36A2	5	150722462	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	5244705	150722462	30192798	174	51828											
ITK	3702	broad.mit.edu	37	chr5	156671418	156671418	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctgcagagaccctgcTgggcatgtgtctggatgtgt	5	14	14	8	0	1	1	0	0	1	1	1	3	1	2	1	2	3	4	1	2	0	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:156671418T>A	ENST00000422843.3	+	13	1531	c.1379T>A	c.(1378-1380)cTg>cAg	p.L460Q	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	460	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGACCCTGCTGGGCATGTGT	0.572			T	SYK	peripheral T-cell lymphoma								17	25					0	0	0	0	A	156671418	T	A	156671418	3	1	292	1	0	0	0	0	1	0	0	0	7962	1580	55	5	1429	5	ITK	5	156671418	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	5948956	156671418	24243842	175	51829											
FABP6	2172	broad.mit.edu	37	chr5	159659189	159659189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggcaggacttcacttggtCccagcactactccgggggcc	6	8	13	14	1	1	0	1	0	0	0	3	1	3	1	3	5	2	2	3	5	1	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:159659189C>A	ENST00000393980.4	+	5	445	c.299C>A	c.(298-300)tCc>tAc	p.S100Y	FABP6_ENST00000393982.1_Missense_Mutation_p.S100Y|FABP6_ENST00000402432.3_Missense_Mutation_p.S51Y	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	51					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCACTTGGTCCCAGCACTAC	0.562													9	8					0.000442599	0.000661257	1	0	A	159659189	C	A	159659189	3	1	292	1	0	0	0	0	1	0	0	0	5402	855	30	2	313	2	FABP6	5	159659189	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2987771	159659189	21256071	176	51830											
GABRA6	2559	broad.mit.edu	37	chr5	161115970	161115971	+	Frame_Shift_Ins	INS	-	-	T																															ttaggagtatacgatggatgINStttttttccgccagacctgg																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:161115970_161115971insT	ENST00000274545.5	+	4	674_675	c.241_242insT	c.(241-243)tttfs	p.F81fs	GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000523217.1_Intron|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	81					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.V81F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TACGATGGATGTTTTTTTCCGC	0.401										TCGA Ovarian(5;0.080)			19	44	---	---	---	---					T	161115971	-	T	161115970	7	5	292	1	0	1	1	0	0	0	0	0	6213	1377	48	0	255	0	GABRA6	5	161115970	Frame_Shift_Ins	INS	-	TCGA-CV-7245-01A-11D-2012-08	1456781	161115970	19799290	177	51831											
GABRA1	2554	broad.mit.edu	37	chr5	161302615	161302615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttggaggacttccctatgGatgcccatgcttgcccacta	8	12	9	12	0	0	0	0	0	0	0	1	3	1	3	3	3	3	1	3	3	2	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:161302615G>T	ENST00000428797.2	+	7	881	c.526G>T	c.(526-528)Gat>Tat	p.D176Y	GABRA1_ENST00000420560.1_Missense_Mutation_p.D176Y|GABRA1_ENST00000393943.4_Missense_Mutation_p.D176Y|GABRA1_ENST00000023897.6_Missense_Mutation_p.D176Y|GABRA1_ENST00000444819.1_Missense_Mutation_p.D176Y|GABRA1_ENST00000437025.2_Missense_Mutation_p.D176Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	176					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTTCCCTATGGATGCCCATGC	0.383													17	52					2.35188e-11	4.17417e-11	1	0	T	161302615	G	T	161302615	3	4	292	1	0	0	0	0	1	0	0	0	6208	1174	41	2	544	2	GABRA1	5	161302615	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	186645	161302615	19612645	178	51832											
GABRP	2568	broad.mit.edu	37	chr5	170239158	170239158	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggattgttgattatttcAcaattcaaaaccccagtaat	14	13	6	8	0	2	1	2	1	0	0	2	2	2	2	2	1	1	3	2	1	5	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:170239158A>G	ENST00000518525.1	+	11	1683	c.1219A>G	c.(1219-1221)Aca>Gca	p.T407A	GABRP_ENST00000265294.4_Missense_Mutation_p.T407A|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	407						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGATTATTTCACAATTCAAAA	0.373													13	33					0	0	0	0	G	170239158	A	G	170239158	3	3	292	1	0	0	0	0	1	0	0	0	6222	159	6	5	1253	5	GABRP	5	170239158	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	8936543	170239158	10676102	179	51833											
NSD1	64324	broad.mit.edu	37	chr5	176675284	176675284	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctaaaaaaatgcagggtGaacgcggtggaggagctgca	13	6	14	8	2	1	1	0	1	1	0	1	3	1	3	1	4	4	3	1	4	5	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:176675284G>T	ENST00000439151.2	+	11	4645	c.4600G>T	c.(4600-4602)Gaa>Taa	p.E1534*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1265*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1265*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1431*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1534					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AATGCAGGGTGAACGCGGTGG	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			15	5					3.27435e-08	5.47183e-08	1	0	T	176675284	G	T	176675284	4	4	292	1	0	0	0	0	0	1	0	0	10740	1291	45	2	4638	2	NSD1	5	176675284	Nonsense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	6436126	176675284	4239976	180	51834											
MAML1	9794	broad.mit.edu	37	chr5	179192840	179192840	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtttaatgaggacttcgagGagaagaaggacccagagtct	13	9	13	6	1	1	4	0	1	1	3	2	8	1	6	1	3	0	1	1	3	3	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:179192840G>T	ENST00000292599.3	+	2	1092	c.829G>T	c.(829-831)Gag>Tag	p.E277*	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	277					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACTTCGAGGAGAAGAAGGA	0.512													26	69					7.68411e-24	1.5602e-23	1	0	T	179192840	G	T	179192840	4	4	292	1	0	0	0	0	0	1	0	0	9274	1175	41	2	835	2	MAML1	5	179192840	Nonsense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2517556	179192840	1722420	181	51835											
DSP	1832	broad.mit.edu	37	chr6	7583613	7583613	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggccaagagaaagaaattaAtcagcccagaatccacagtc	18	5	8	10	0	1	3	1	0	0	3	3	4	2	3	3	1	1	0	3	1	5	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:7583613A>G	ENST00000379802.3	+	24	6459	c.6118A>G	c.(6118-6120)Atc>Gtc	p.I2040V	DSP_ENST00000418664.2_Missense_Mutation_p.I1441V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2040	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGAAATTAATCAGCCCAGA	0.488													40	41					0	0	0	0	G	7583613	A	G	7583613	3	3	292	1	0	0	0	0	1	0	0	0	4817	101	4	5	6212	5	DSP	6	7583613	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08		7583613	163531454	182	51836											
SCGN	10590	broad.mit.edu	37	chr6	25670229	25670229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctcttggcgccacagaaCttcctccgagacctctttct	6	13	6	16	2	3	2	0	0	3	2	6	3	5	2	4	1	1	0	4	1	1	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:25670229C>A	ENST00000377961.2	+	6	564	c.396C>A	c.(394-396)aaC>aaA	p.N132K	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	132	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGCCACAGAACTTCCTCCGAG	0.398													42	170					1.41504e-22	2.84428e-22	1	0	A	25670229	C	A	25670229	3	1	292	1	0	0	0	0	1	0	0	0	13990	564	20	4	418	4	SCGN	6	25670229	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	18086616	25670229	145444838	183	51837											
HIST1H2BI	8346	broad.mit.edu	37	chr6	26273408	26273408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatgaactccttcgtcaacGacattttcgagcgcattgca	10	13	7	11	4	1	1	1	1	0	0	4	3	2	1	1	0	4	2	1	0	3	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:26273408G>A	ENST00000377733.2	+	1	265	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	69					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.D69N(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CTTCGTCAACGACATTTTCGA	0.567													63	189					0	0	0	0	A	26273408	G	A	26273408	3	1	292	1	0	0	0	0	1	0	0	0	7198	1058	37	1	207	1	HIST1H2BI	6	26273408	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	603179	26273408	144841659	184	51838											
ABT1	29777	broad.mit.edu	37	chr6	26598238	26598238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagggatgggtggagttccGtgacaagcgcatagccaagc	10	6	16	9	3	0	1	0	1	0	0	1	4	1	3	2	3	3	2	2	3	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:26598238G>A	ENST00000274849.1	+	2	369	c.338G>A	c.(337-339)cGt>cAt	p.R113H		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	113	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GTGGAGTTCCGTGACAAGCGC	0.597													11	44					0	0	0	0	A	26598238	G	A	26598238	3	1	292	1	0	0	0	0	1	0	0	0	101	1145	40	1	344	1	ABT1	6	26598238	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	324830	26598238	144516829	185	51839											
ZNF184	7738	broad.mit.edu	37	chr6	27419371	27419371	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgttgatgctgagttagaTgggagctctggctaaaggtc	8	13	14	6	1	1	3	0	2	1	1	3	4	1	4	0	3	2	5	0	3	3	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:27419371T>A	ENST00000211936.6	-	6	2251	c.1967A>T	c.(1966-1968)cAt>cTt	p.H656L	ZNF184_ENST00000377419.1_Missense_Mutation_p.H656L	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	656					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGAGTTAGATGGGAGCTCTG	0.423													18	79					0	0	0	0	A	27419371	T	A	27419371	3	1	292	1	0	0	0	0	1	0	0	0	17846	1464	51	5	292	5	ZNF184	6	27419371	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	821133	27419371	143695696	186	51840											
UBD	10537	broad.mit.edu	37	chr6	29524075	29524075	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatttttttcacgctgtcaTatgggttggcatcaaaggtc	8	16	10	7	1	3	1	3	1	0	0	4	1	3	1	0	3	0	3	0	3	2	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:29524075T>C	ENST00000377050.4	-	2	303	c.80A>G	c.(79-81)tAt>tGt	p.Y27C	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	27	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CACGCTGTCATATGGGTTGGC	0.488													20	50					0	0	0	0	C	29524075	T	C	29524075	3	2	292	1	0	0	0	0	1	0	0	0	16939	1406	49	5	421	5	UBD	6	29524075	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	2104704	29524075	141590992	187	51841											
EHMT2	10919	broad.mit.edu	37	chr6	31854582	31854582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagccaccacgctgcacCatgtaacgggctacctccag	11	5	8	17	2	0	0	0	0	0	0	1	0	1	0	5	1	4	4	5	1	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:31854582C>T	ENST00000395728.3	-	16	2381	c.2382G>A	c.(2380-2382)atG>atA	p.M794I	EHMT2_ENST00000375528.4_Missense_Mutation_p.M760I|EHMT2_ENST00000375530.4_Missense_Mutation_p.M703I|EHMT2_ENST00000375537.4_Missense_Mutation_p.M737I|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	737					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CACGCTGCACCATGTAACGGG	0.622													35	158					0	0	0	0	T	31854582	C	T	31854582	3	4	292	1	0	0	0	0	1	0	0	0	5020	594	21	4	1469	4	EHMT2	6	31854582	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2330507	31854582	139260485	188	51842											
C4A	720	broad.mit.edu	37	chr6	31962428	31962428	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctctgaaggtggtggctCgagggtccttcgaattccct	5	13	13	10	2	1	1	0	1	1	0	6	3	3	1	2	4	0	1	2	4	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:31962428C>T	ENST00000428956.2	+	21	2830	c.2746C>T	c.(2746-2748)Cga>Tga	p.R916*	C4A_ENST00000498271.1_Nonsense_Mutation_p.R916*	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		GGTGGTGGCTCGAGGGTCCTT	0.637													23	71					0	0	0	0	T	31962428	C	T	31962428	4	4	292	1	0	0	0	0	0	1	0	0	2268	876	31	1	2828	1	C4A	6	31962428	Nonsense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	107846	31962428	139152639	189	51843											
FANCE	2178	broad.mit.edu	37	chr6	35425701	35425701	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctccccaggggttagaGggattggaggatgccccccc	6	9	14	12	0	1	1	0	0	1	1	2	4	1	4	5	5	1	1	5	5	1	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:35425701G>A	ENST00000229769.2	+	4	1094	c.909G>A	c.(907-909)gaG>gaA	p.E303E		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	303	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						AGGGGTTAGAGGGATTGGAGG	0.562			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				42	53					0	0	0	0	A	35425701	G	A	35425701	2	1	292	1	0	0	0	0	0	0	0	1	5711	991	35	4		4	FANCE	6	35425701	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3463273	35425701	135689366	190	51844											
KIF6	221458	broad.mit.edu	37	chr6	39507828	39507828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccaaaatgctgaagtcCtgggcctgtgagggagctga	9	9	13	10	0	0	3	0	3	0	0	2	4	2	4	4	2	2	2	4	2	3	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:39507828C>A	ENST00000287152.7	-	13	1690	c.1596G>T	c.(1594-1596)caG>caT	p.Q532H	KIF6_ENST00000373215.3_Missense_Mutation_p.Q532H|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373216.3_Missense_Mutation_p.Q532H|KIF6_ENST00000373213.4_Missense_Mutation_p.Q371H	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	532					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGCTGAAGTCCTGGGCCTGTG	0.458													103	114					3.01496e-42	6.38049e-42	1	0	A	39507828	C	A	39507828	3	1	292	1	0	0	0	0	1	0	0	0	8359	680	24	4	892	4	KIF6	6	39507828	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	4082127	39507828	131607239	191	51845											
DAAM2	23500	broad.mit.edu	37	chr6	39841095	39841095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacggaggcctacccctgcCtgctctctgtgctgcaccac	6	8	9	18	1	1	0	0	0	1	0	2	1	1	1	5	2	5	3	5	2	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:39841095C>G	ENST00000538976.1	+	10	1308	c.1126C>G	c.(1126-1128)Ctg>Gtg	p.L376V	DAAM2_ENST00000274867.4_Missense_Mutation_p.L376V|DAAM2_ENST00000398904.2_Missense_Mutation_p.L376V	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	376	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTACCCCTGCCTGCTCTCTGT	0.562													3	19					0	0	0	0	G	39841095	C	G	39841095	3	3	292	1	0	0	0	0	1	0	0	0	4249	680	24	4	1160	4	DAAM2	6	39841095	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	333267	39841095	131273972	192	51846											
TREML2	79865	broad.mit.edu	37	chr6	41165984	41165984	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcctgggcatcgtccTgcagcaagtagcggggccct	5	8	14	14	2	0	0	0	0	0	0	2	0	1	0	4	4	3	4	4	4	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:41165984T>C	ENST00000483722.1	-	2	424	c.239A>G	c.(238-240)cAg>cGg	p.Q80R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	80	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCATCGTCCTGCAGCAAGTA	0.582													22	108					0	0	0	0	C	41165984	T	C	41165984	3	2	292	1	0	0	0	0	1	0	0	0	16568	1580	55	5	742	5	TREML2	6	41165984	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	1324889	41165984	129949083	193	51847											
CUL7	9820	broad.mit.edu	37	chr6	43013126	43013126	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctaacccccgaatgcgCgtatcaatgccaccctgaaa	12	8	6	15	3	2	1	1	1	1	0	3	2	2	1	4	0	3	1	4	0	5	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:43013126C>G	ENST00000535468.1	-	15	3215	c.3129G>C	c.(3127-3129)acG>acC	p.T1043T	CUL7_ENST00000265348.3_Silent_p.T959T	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	959					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCGAATGCGCGTATCAATGC	0.597													38	105					0	0	0	0	G	43013126	C	G	43013126	2	3	292	1	0	0	0	0	0	0	0	1	4092	755	27	3		3	CUL7	6	43013126	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1847142	43013126	128101941	194	51848											
CRISP3	10321	broad.mit.edu	37	chr6	49698934	49698935	+	Frame_Shift_Ins	INS	-	-	G																															aaggtgctccttgttcataaINSgggacatatagtctattagc																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:49698934_49698935insG	ENST00000433368.2	-	7	689_690	c.620_621insC	c.(619-621)ctafs	p.L207fs	CRISP3_ENST00000371159.4_Frame_Shift_Ins_p.L215fs|CRISP3_ENST00000393666.1_Frame_Shift_Ins_p.L184fs|CRISP3_ENST00000423399.2_Frame_Shift_Ins_p.L94fs|CRISP3_ENST00000263045.4_Frame_Shift_Ins_p.L197fs	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	184					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTTGTTCATAAGGGACATATAG	0.322													8	75	---	---	---	---					G	49698935	-	G	49698934	7	5	292	1	0	1	1	0	0	0	0	0	3911	59	3	0	193	0	CRISP3	6	49698934	Frame_Shift_Ins	INS	-	TCGA-CV-7245-01A-11D-2012-08	6685808	49698934	121416133	195	51849											
TFAP2B	7021	broad.mit.edu	37	chr6	50803949	50803949	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcagagacggctgtcgccCcctgaatgcctcaatgcatc	8	9	10	14	2	2	2	2	1	0	1	4	3	2	2	3	1	2	3	3	1	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:50803949C>G	ENST00000263046.4	+	5	970	c.804C>G	c.(802-804)ccC>ccG	p.P268P	TFAP2B_ENST00000393655.3_Silent_p.P259P			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	259					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GGCTGTCGCCCCCTGAATGCC	0.498													25	26					0	0	0	0	G	50803949	C	G	50803949	2	3	292	1	0	0	0	0	0	0	0	1	15882	610	22	4		4	TFAP2B	6	50803949	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1105015	50803949	120311118	196	51850											
PKHD1	5314	broad.mit.edu	37	chr6	51890545	51890545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcctccagactgtgaagagGgatggagcatccagacaggc	12	5	14	10	0	0	4	0	1	0	3	2	6	2	6	3	3	2	1	3	3	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:51890545G>A	ENST00000371117.3	-	32	4338	c.4063C>T	c.(4063-4065)Cct>Tct	p.P1355S	PKHD1_ENST00000340994.4_Missense_Mutation_p.P1355S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1355	IPT/TIG 8; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGTGAAGAGGGATGGAGCAT	0.502													15	51					0	0	0	0	A	51890545	G	A	51890545	3	1	292	1	0	0	0	0	1	0	0	0	12043	1232	43	4	8344	4	PKHD1	6	51890545	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1086596	51890545	119224522	197	51851											
EYS	346007	broad.mit.edu	37	chr6	66044978	66044978	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccagcccatctgagaaaaCatagataccgatattcctga	14	9	7	11	1	1	3	0	2	1	2	2	5	2	3	4	0	4	0	4	0	5	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:66044978C>G	ENST00000503581.1	-	11	2198	c.1661G>C	c.(1660-1662)tGt>tCt	p.C554S	EYS_ENST00000370616.2_Missense_Mutation_p.C554S|EYS_ENST00000370621.3_Missense_Mutation_p.C554S|EYS_ENST00000393380.2_Missense_Mutation_p.C554S|EYS_ENST00000370618.3_Missense_Mutation_p.C554S|EYS_ENST00000342421.5_Missense_Mutation_p.C554S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	554					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTGAGAAAACATAGATACCG	0.348													14	33					0	0	0	0	G	66044978	C	G	66044978	3	3	292	1	0	0	0	0	1	0	0	0	5370	478	17	4	7867	4	EYS	6	66044978	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	14154433	66044978	105070089	198	51852											
COL12A1	1303	broad.mit.edu	37	chr6	75843070	75843070	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtataaacgggaactacagtCacagtgtatgaggtatctgg	13	10	12	6	1	2	1	1	1	1	0	2	2	2	2	0	3	3	3	0	3	7	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:75843070C>A	ENST00000322507.8	-	34	6042	c.5733G>T	c.(5731-5733)gtG>gtT	p.V1911V	COL12A1_ENST00000416123.2_Silent_p.V1911V|COL12A1_ENST00000345356.6_Silent_p.V747V|COL12A1_ENST00000483888.2_Silent_p.V1911V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1911	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAACTACAGTCACAGTGTATG	0.378													13	44					2.31682e-05	3.5734e-05	1	0	A	75843070	C	A	75843070	2	1	292	1	0	0	0	0	0	0	0	1	3699	813	29	2		2	COL12A1	6	75843070	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	9798092	75843070	95271997	199	51853											
IBTK	25998	broad.mit.edu	37	chr6	82911176	82911176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaaagatccttcaaaacaCcatcgcttaaaacatcaaga	19	7	4	11	1	2	3	2	0	0	3	4	3	3	3	2	0	2	1	2	0	6	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:82911176C>G	ENST00000306270.7	-	19	3302	c.2753G>C	c.(2752-2754)gGt>gCt	p.G918A	IBTK_ENST00000503631.1_Missense_Mutation_p.G717A|IBTK_ENST00000510291.1_Missense_Mutation_p.G918A	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	918					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CTTCAAAACACCATCGCTTAA	0.318													11	13					0	0	0	0	G	82911176	C	G	82911176	3	3	292	1	0	0	0	0	1	0	0	0	7529	507	18	4	1352	4	IBTK	6	82911176	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	7068106	82911176	88203891	200	51854											
DOPEY1	23033	broad.mit.edu	37	chr6	83850121	83850121	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattaatcttggagctacaaAggttagacaattcatattta	15	15	6	5	0	2	1	1	0	1	1	2	2	2	2	0	2	2	2	0	2	8	9			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:83850121A>G	ENST00000349129.2	+	23	5674	c.5415_splice	c.e23+1	p.K1805_splice	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Splice_Site_p.K1786_splice|DOPEY1_ENST00000369739.3_Splice_Site_p.K1796_splice	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1805					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGAGCTACAAAGGTTAGACAA	0.378													15	41					0	0	0	0	G	83850121	A	G	83850121	5	3	292	1	0	0	0	0	0	0	1	0	4743	86	3	5	5496	5	DOPEY1	6	83850121	Splice_Site	SNP	A	TCGA-CV-7245-01A-11D-2012-08	938945	83850121	87264946	201	51855											
GABRR2	2570	broad.mit.edu	37	chr6	89975369	89975369	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcacagctctgcggtcgatCcagaaggacacccaggacag	11	4	13	13	2	1	1	0	0	1	1	3	4	2	3	2	4	2	2	2	4	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:89975369C>A	ENST00000402938.3	-	7	985	c.852G>T	c.(850-852)tgG>tgT	p.W284C	GABRR2_ENST00000602399.1_Missense_Mutation_p.W309C			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	309					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TGCGGTCGATCCAGAAGGACA	0.453													22	37					4.4004e-07	7.18565e-07	1	0	A	89975369	C	A	89975369	3	1	292	1	0	0	0	0	1	0	0	0	6225	856	30	2	557	2	GABRR2	6	89975369	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	6125248	89975369	81139698	202	51856											
FUT9	10690	broad.mit.edu	37	chr6	96651163	96651163	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtccaatggaatcagcCagctctgtgctgaaaatgaa	13	10	9	9	0	3	2	2	2	1	0	4	3	4	3	2	1	3	2	2	1	5	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:96651163C>A	ENST00000302103.5	+	3	458	c.132C>A	c.(130-132)gcC>gcA	p.A44A		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	44					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGGAATCAGCCAGCTCTGTGC	0.403													32	34					1.62565e-12	2.95868e-12	1	0	A	96651163	C	A	96651163	2	1	292	1	0	0	0	0	0	0	0	1	6159	581	21	4		4	FUT9	6	96651163	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	6675794	96651163	74463904	203	51857											
KLHL32	114792	broad.mit.edu	37	chr6	97562042	97562042	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccatgcctgtgggaaggagCcaccattgtgtggcagtcat	8	9	13	11	0	1	0	1	0	0	0	1	2	1	2	4	3	2	1	4	3	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:97562042C>T	ENST00000369261.4	+	7	1374	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Silent_p.S301S|KLHL32_ENST00000539200.1_Silent_p.S268S	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	337										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGGGAAGGAGCCACCATTGTG	0.562													16	70					0	0	0	0	T	97562042	C	T	97562042	2	4	292	1	0	0	0	0	0	0	0	1	8438	738	26	4		4	KLHL32	6	97562042	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	910879	97562042	73553025	204	51858											
POPDC3	64208	broad.mit.edu	37	chr6	105609578	105609578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagctgcacagacatctacCcaagcccagacagcagaaca	15	4	7	15	0	2	3	1	0	1	3	2	3	2	3	2	0	6	3	2	0	3	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:105609578C>G	ENST00000254765.3	-	2	485	c.207G>C	c.(205-207)tgG>tgC	p.W69C	BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	69						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				AGACATCTACCCAAGCCCAGA	0.428													33	118					0	0	0	0	G	105609578	C	G	105609578	3	3	292	1	0	0	0	0	1	0	0	0	12328	624	22	4	680	4	POPDC3	6	105609578	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	8047536	105609578	65505489	205	51859											
PREP	5550	broad.mit.edu	37	chr6	105821390	105821390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaacttgattgtcaccCagtctgagccactggcactc	9	11	8	13	0	3	3	2	3	1	0	4	3	3	3	2	1	2	1	2	1	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:105821390C>A	ENST00000369110.3	-	5	641	c.449G>T	c.(448-450)tGg>tTg	p.W150L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	150					proteolysis		serine-type endopeptidase activity	p.W150*(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GATTGTCACCCAGTCTGAGCC	0.473													15	47					0.00244969	0.00361673	1	0	A	105821390	C	A	105821390	3	1	292	1	0	0	0	0	1	0	0	0	12554	595	21	4	1727	4	PREP	6	105821390	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	211812	105821390	65293677	206	51860											
LAMA4	3910	broad.mit.edu	37	chr6	112457395	112457395	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcacagggccaccgctgAatccaaaatcatagaacaca	16	5	8	12	1	1	2	1	1	0	1	2	3	2	2	3	1	2	2	3	1	5	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:112457395A>C	ENST00000230538.7	-	25	3741	c.3344T>G	c.(3343-3345)tTc>tGc	p.F1115C	LAMA4_ENST00000522006.1_Missense_Mutation_p.F1108C|LAMA4_ENST00000389463.4_Missense_Mutation_p.F1108C|LAMA4_ENST00000424408.2_Missense_Mutation_p.F1108C	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1115	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCACCGCTGAATCCAAAATC	0.378													3	45					0	0	0	0	C	112457395	A	C	112457395	3	2	292	1	0	0	0	0	1	0	0	0	8661	246	9	5	2187	5	LAMA4	6	112457395	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	6636005	112457395	58657672	207	51861											
LAMA4	3910	broad.mit.edu	37	chr6	112486448	112486448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagagacatgttcaccacttCcatttgttccctcactcttt	8	15	4	14	0	3	1	2	0	1	1	5	2	5	1	3	0	0	2	3	0	0	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:112486448C>T	ENST00000230538.7	-	13	1979	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.E521K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E521K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E521K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	528	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTCACCACTTCCATTTGTTCC	0.453													19	64					0	0	0	0	T	112486448	C	T	112486448	3	4	292	1	0	0	0	0	1	0	0	0	8661	864	30	2	3997	2	LAMA4	6	112486448	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	29053	112486448	58628619	208	51862											
ROS1	6098	broad.mit.edu	37	chr6	117680986	117680986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacctcagagctagagcGattgtgcaagtgcagaagaa	16	7	11	7	1	1	4	1	0	0	4	1	5	1	4	1	0	5	3	1	0	6	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:117680986G>T	ENST00000368508.3	-	23	3832	c.3634C>A	c.(3634-3636)Cgc>Agc	p.R1212S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.R1207S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1212					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAGCTAGAGCGATTGTGCAAG	0.393			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								29	39					1.88708e-17	3.69662e-17	1	0	T	117680986	G	T	117680986	3	4	292	1	0	0	0	0	1	0	0	0	13616	1058	37	3	3493	3	ROS1	6	117680986	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	5194538	117680986	53434081	209	51863											
TRDN	10345	broad.mit.edu	37	chr6	123869599	123869599	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctctatgttctttgtacCtttatcagtatcttcgtcac	7	20	4	10	1	5	0	2	0	3	0	7	0	5	0	1	0	1	3	1	0	5	9			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:123869599C>G	ENST00000334268.4	-	3	708	c.391_splice	c.e3+1	p.G131_splice	TRDN_ENST00000546248.1_Splice_Site_p.G131_splice|TRDN_ENST00000542443.1_Splice_Site_p.G131_splice|TRDN_ENST00000398178.3_Splice_Site_p.G131_splice			Q13061	TRDN_HUMAN	triadin	131					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTCTTTGTACCTTTATCAGTA	0.368													3	6					0	0	0	0	G	123869599	C	G	123869599	5	3	292	1	0	0	0	0	0	0	1	0	16563	695	24	4	1954	4	TRDN	6	123869599	Splice_Site	SNP	C	TCGA-CV-7245-01A-11D-2012-08	6188613	123869599	47245468	210	51864											
EYA4	2070	broad.mit.edu	37	chr6	133836544	133836544	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcctggctaacaaatgcActtaagtctttatcaattat	13	15	5	8	0	2	0	1	0	1	0	3	1	3	0	1	1	2	2	1	1	6	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:133836544A>T	ENST00000367895.5	+	17	2051	c.1587A>T	c.(1585-1587)gcA>gcT	p.A529A	EYA4_ENST00000452339.2_Silent_p.A475A|EYA4_ENST00000531901.1_Silent_p.A535A|EYA4_ENST00000355167.3_Silent_p.A529A|EYA4_ENST00000431403.2_Silent_p.A529A|EYA4_ENST00000430974.2_Silent_p.A481A|EYA4_ENST00000355286.6_Silent_p.A506A|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000525849.1_Silent_p.A506A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	529					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TAACAAATGCACTTAAGTCTT	0.393													35	121					0	0	0	0	T	133836544	A	T	133836544	2	4	292	1	0	0	0	0	0	0	0	1	5369	146	6	5		5	EYA4	6	133836544	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	9966945	133836544	37278523	211	51865											
SYNE1	23345	broad.mit.edu	37	chr6	152443676	152443676	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctctgacattggtacaagGcaggcaagcccgatgaggag	11	7	13	10	1	1	2	0	2	1	0	2	4	2	3	2	4	2	3	2	4	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:152443676G>T	ENST00000367255.5	-	146	26890	c.26289C>A	c.(26287-26289)tgC>tgA	p.C8763*	ESR1_ENST00000544394.1_Intron|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.C3287*|SYNE1_ENST00000354674.4_Nonsense_Mutation_p.C941*|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.C8715*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.C918*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.C8763*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.C8715*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.C8375*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8763	KASH.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGTACAAGGCAGGCAAGCC	0.602										HNSCC(10;0.0054)			14	60					9.31168e-06	1.45413e-05	1	0	T	152443676	G	T	152443676	4	4	292	1	0	0	0	0	0	1	0	0	15536	1195	42	4	108	4	SYNE1	6	152443676	Nonsense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	18607132	152443676	18671391	212	51866											
SYNE1	23345	broad.mit.edu	37	chr6	152456317	152456317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatttcatttttccttctGtcaatgttctccagcataag	10	17	4	10	0	4	0	2	0	2	0	6	0	5	0	2	0	1	2	2	0	3	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:152456317G>T	ENST00000367255.5	-	142	26311	c.25710C>A	c.(25708-25710)gaC>gaA	p.D8570E	SYNE1_ENST00000356820.4_Missense_Mutation_p.D3094E|SYNE1_ENST00000354674.4_Missense_Mutation_p.D748E|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.D8522E|SYNE1_ENST00000539504.1_Missense_Mutation_p.D725E|SYNE1_ENST00000265368.4_Missense_Mutation_p.D8570E|SYNE1_ENST00000448038.1_Missense_Mutation_p.D8522E|SYNE1_ENST00000341594.5_Missense_Mutation_p.D8182E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8570					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTCCTTCTGTCAATGTTCT	0.353										HNSCC(10;0.0054)			16	21					6.31663e-08	1.04858e-07	1	0	T	152456317	G	T	152456317	3	4	292	1	0	0	0	0	1	0	0	0	15536	1368	48	4	703	4	SYNE1	6	152456317	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	12641	152456317	18658750	213	51867											
SLC22A1	6580	broad.mit.edu	37	chr6	160557345	160557345	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgctcaaaagaatgggaaGttgcctcctgctgatttaaa	13	11	9	8	1	1	2	1	1	0	1	3	3	2	3	2	1	2	3	2	1	6	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:160557345G>A	ENST00000366963.4	+	5	1080	c.933G>A	c.(931-933)aaG>aaA	p.K311K	SLC22A1_ENST00000457470.2_Silent_p.K311K|SLC22A1_ENST00000324965.4_Silent_p.K311K	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	311						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AGAATGGGAAGTTGCCTCCTG	0.498													22	40					0	0	0	0	A	160557345	G	A	160557345	2	1	292	1	0	0	0	0	0	0	0	1	14528	1020	36	4		4	SLC22A1	6	160557345	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	8101028	160557345	10557722	214	51868											
UNCX	340260	broad.mit.edu	37	chr7	1273324	1273324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagacctggtcgagtcccGagttcaggtaaagacccggc	9	7	12	13	3	1	2	1	0	0	2	3	4	2	2	4	3	0	2	4	3	3	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:1273324G>T	ENST00000316333.8	+	2	554	c.443G>T	c.(442-444)cGa>cTa	p.R148L		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	148					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GTCGAGTCCCGAGTTCAGGTA	0.657													21	41					6.33239e-15	1.20279e-14	1	0	T	1273324	G	T	1273324	3	4	292	1	0	0	0	0	1	0	0	0	17094	1058	37	3	449	3	UNCX	7	1273324	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08		1273324	157865339	215	51869											
MAD1L1	8379	broad.mit.edu	37	chr7	1937910	1937910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggttctccgtggtgatgtCgatctggtagccggtgagcg	4	12	16	9	4	2	2	0	2	2	0	4	3	2	2	2	4	2	2	2	4	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:1937910C>T	ENST00000406869.1	-	18	2481	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N	MAD1L1_ENST00000402746.1_Missense_Mutation_p.D550N|MAD1L1_ENST00000399654.2_Missense_Mutation_p.D642N|MAD1L1_ENST00000265854.7_Missense_Mutation_p.D642N			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	642					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GTGGTGATGTCGATCTGGTAG	0.612													18	38					0	0	0	0	T	1937910	C	T	1937910	3	4	292	1	0	0	0	0	1	0	0	0	9212	884	31	1	240	1	MAD1L1	7	1937910	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	664586	1937910	157200753	216	51870											
THSD7A	221981	broad.mit.edu	37	chr7	11486919	11486919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattgcatgaagaaaacttgGaccagctggtcaattgacag	14	9	10	8	0	1	3	1	2	0	1	1	4	1	4	1	2	3	2	1	2	4	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:11486919G>T	ENST00000423059.3	-	12	2989	c.2738C>A	c.(2737-2739)tCc>tAc	p.S913Y	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	913	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGAAAACTTGGACCAGCTGGT	0.522										HNSCC(18;0.044)			12	27					7.03913e-09	1.19224e-08	1	0	T	11486919	G	T	11486919	3	4	292	1	0	0	0	0	1	0	0	0	15973	1174	41	2	2299	2	THSD7A	7	11486919	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	9549009	11486919	147651744	217	51871											
THSD7A	221981	broad.mit.edu	37	chr7	11676130	11676130	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccaccacatgacgcgtccGgtgctggagcccgctgccgc	5	5	13	18	6	0	1	0	1	0	0	1	2	1	2	5	2	3	2	5	2	0	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:11676130G>T	ENST00000423059.3	-	2	900	c.649C>A	c.(649-651)Cgg>Agg	p.R217R		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	217	TSP type-1 2.					integral to membrane		p.R217R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGACGCGTCCGGTGCTGGAGC	0.617										HNSCC(18;0.044)			5	30					1.23904e-05	1.9259e-05	1	0	T	11676130	G	T	11676130	2	4	292	1	0	0	0	0	0	0	0	1	15973	1115	39	3		3	THSD7A	7	11676130	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	189211	11676130	147462533	218	51872											
CREB5	9586	broad.mit.edu	37	chr7	28844011	28844011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccagcacccagcacacCatcctcaccctcaaccccat	12	4	3	22	0	2	0	2	0	0	0	3	0	3	0	7	0	4	3	7	0	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:28844011C>T	ENST00000357727.2	+	8	1288	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	CREB5_ENST00000409603.1_Missense_Mutation_p.H267Y|CREB5_ENST00000396300.2_Missense_Mutation_p.H293Y|CREB5_ENST00000396299.2_Missense_Mutation_p.H267Y|CREB5_ENST00000396298.2_Missense_Mutation_p.H161Y	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	300					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						cccagcacaccatcctcaccc	0.602													22	22					0	0	0	0	T	28844011	C	T	28844011	3	4	292	1	0	0	0	0	1	0	0	0	3890	594	21	4	979	4	CREB5	7	28844011	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	17167881	28844011	130294652	219	51873											
KIAA0895	23366	broad.mit.edu	37	chr7	36397151	36397151	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatcaatgaatcttctgcaTttagaatagacttcttagca	13	15	6	7	0	4	4	1	2	3	2	4	4	4	4	0	0	2	2	0	0	6	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:36397151T>C	ENST00000317020.6	-	2	374	c.74A>G	c.(73-75)aAt>aGt	p.N25S	KIAA0895_ENST00000338533.5_Missense_Mutation_p.N63S|KIAA0895_ENST00000297063.6_Missense_Mutation_p.N76S|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000440378.1_Missense_Mutation_p.N25S|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000415803.2_Missense_Mutation_p.N63S|KIAA0895_ENST00000453212.1_Intron	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	76	Arg-rich.									breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATCTTCTGCATTTAGAATAGA	0.343													9	23					0	0	0	0	C	36397151	T	C	36397151	3	2	292	1	0	0	0	0	1	0	0	0	8248	1493	52	5	1355	5	KIAA0895	7	36397151	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	7553140	36397151	122741512	220	51874											
ELMO1	9844	broad.mit.edu	37	chr7	36895281	36895281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccatgctgagcagggtgtCcaggtcattccgcgtcaggt	6	11	13	11	2	2	1	2	1	0	0	5	1	5	1	3	3	2	2	3	3	0	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:36895281C>A	ENST00000310758.4	-	22	2706	c.2059G>T	c.(2059-2061)Gac>Tac	p.D687Y	ELMO1_ENST00000396040.2_Missense_Mutation_p.D207Y|ELMO1_ENST00000442504.1_Missense_Mutation_p.D687Y|ELMO1_ENST00000341056.3_Missense_Mutation_p.D389Y|ELMO1_ENST00000396045.3_Missense_Mutation_p.D207Y|ELMO1_ENST00000448602.1_Missense_Mutation_p.D687Y	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	687					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AGCAGGGTGTCCAGGTCATTC	0.577													39	99					2.59497e-14	4.85526e-14	1	0	A	36895281	C	A	36895281	3	1	292	1	0	0	0	0	1	0	0	0	5103	855	30	2	128	2	ELMO1	7	36895281	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	498130	36895281	122243382	221	51875											
PKD1L1	168507	broad.mit.edu	37	chr7	47898472	47898472	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaggatgagaaccgcactCataaagcctagctgcatgaa	14	8	10	9	1	1	3	1	3	0	1	1	5	1	4	2	1	4	3	2	1	5	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:47898472C>G	ENST00000289672.2	-	27	4211	c.4161G>C	c.(4159-4161)atG>atC	p.M1387I		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1387	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAACCGCACTCATAAAGCCTA	0.498													9	26					0	0	0	0	G	47898472	C	G	47898472	3	3	292	1	0	0	0	0	1	0	0	0	12036	826	29	2	4512	2	PKD1L1	7	47898472	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	11003191	47898472	111240191	222	51876											
FIGNL1	63979	broad.mit.edu	37	chr7	50514817	50514817	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatattttttgaacagttTggtagcacagacctgggaaa	12	13	10	6	0	0	2	0	1	0	1	0	3	0	3	1	2	3	4	1	2	4	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:50514817T>A	ENST00000419119.1	-	2	1722	c.169A>T	c.(169-171)Aaa>Taa	p.K57*	FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.K57*|FIGNL1_ENST00000435566.1_Intron|FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.K57*|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.K57*			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	57					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGAACAGTTTGGTAGCACAG	0.393													15	42					0	0	0	0	A	50514817	T	A	50514817	4	1	292	1	0	0	0	0	0	1	0	0	5937	1821	63	5	1859	5	FIGNL1	7	50514817	Nonsense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	2616345	50514817	108623846	223	51877											
WBSCR17	64409	broad.mit.edu	37	chr7	70853353	70853353	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcccacacacctgctgaaGgaaatcattctggtggatga	12	8	10	11	1	2	2	1	2	1	0	2	4	2	4	2	3	1	1	2	3	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:70853353G>A	ENST00000333538.5	+	3	1189	c.555G>A	c.(553-555)aaG>aaA	p.K185K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	185	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACCTGCTGAAGGAAATCATTC	0.542													17	27					0	0	0	0	A	70853353	G	A	70853353	2	1	292	1	0	0	0	0	0	0	0	1	17360	991	35	4		4	WBSCR17	7	70853353	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	20338536	70853353	88285310	224	51878											
LAT2	7462	broad.mit.edu	37	chr7	73638999	73638999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagcatcccctggccCggtgggaagcccagacgagg	10	3	16	12	2	0	2	0	0	0	2	1	6	1	3	4	4	2	1	4	4	2	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:73638999C>T	ENST00000460943.1	+	13	1548	c.659C>T	c.(658-660)cCg>cTg	p.P220L	LAT2_ENST00000344995.5_Missense_Mutation_p.P220L|LAT2_ENST00000398475.1_Missense_Mutation_p.P220L|LAT2_ENST00000275635.7_Missense_Mutation_p.P220L	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	220					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						TCCCCTGGCCCGGTGGGAAGC	0.612													6	6					0	0	0	0	T	73638999	C	T	73638999	3	4	292	1	0	0	0	0	1	0	0	0	8698	652	23	1	701	1	LAT2	7	73638999	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2785646	73638999	85499664	225	51879											
SEMA3C	10512	broad.mit.edu	37	chr7	80394488	80394488	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaccttaaagacttccagctCctccagaatgagctcgccac	12	8	6	15	1	0	3	0	1	0	2	4	3	3	3	5	0	3	2	5	0	4	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:80394488C>G	ENST00000265361.3	-	13	1987	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q	SEMA3C_ENST00000544525.1_Missense_Mutation_p.E494Q|SEMA3C_ENST00000419255.2_Missense_Mutation_p.E476Q	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	476	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACTTCCAGCTCCTCCAGAATG	0.388													23	49					0	0	0	0	G	80394488	C	G	80394488	3	3	292	1	0	0	0	0	1	0	0	0	14113	864	30	2	853	2	SEMA3C	7	80394488	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	6755489	80394488	78744175	226	51880											
HGF	3082	broad.mit.edu	37	chr7	81388078	81388078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgacatgctattgaagggGaaccagaggcattgttttct	10	13	11	7	0	1	3	0	2	1	1	1	4	1	4	1	3	2	3	1	3	3	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:81388078G>T	ENST00000222390.5	-	3	523	c.297C>A	c.(295-297)ttC>ttA	p.F99L	HGF_ENST00000423064.2_Missense_Mutation_p.F99L|HGF_ENST00000444829.2_Missense_Mutation_p.F99L|HGF_ENST00000453411.1_Missense_Mutation_p.F99L|HGF_ENST00000354224.6_Missense_Mutation_p.F99L|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000457544.2_Missense_Mutation_p.F99L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	99	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TATTGAAGGGGAACCAGAGGC	0.318													36	59					6.5261e-18	1.28849e-17	1	0	T	81388078	G	T	81388078	3	4	292	1	0	0	0	0	1	0	0	0	7135	1165	41	2	1973	2	HGF	7	81388078	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	993590	81388078	77750585	227	51881											
GRM3	2913	broad.mit.edu	37	chr7	86394734	86394734	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctaccaggagtgaagttGggtgttcacattttggatac	9	14	12	6	0	1	1	1	1	0	0	1	3	1	3	1	3	3	3	1	3	3	7	rs150518450		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:86394734G>C	ENST00000361669.2	+	2	1372	c.273G>C	c.(271-273)ttG>ttC	p.L91F	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.L91F|GRM3_ENST00000394720.2_Missense_Mutation_p.L89F	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	91					synaptic transmission	integral to plasma membrane		p.L91F(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GAGTGAAGTTGGGTGTTCACA	0.433													31	126					0	0	0	0	C	86394734	G	C	86394734	3	2	292	1	0	0	0	0	1	0	0	0	6848	1339	47	4	275	4	GRM3	7	86394734	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	5006656	86394734	72743929	228	51882											
AKAP9	10142	broad.mit.edu	37	chr7	91631454	91631454	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagaaaagggtacactTgaacaagaagttcaagaatt	21	7	9	4	0	1	4	1	1	0	3	1	5	1	4	0	1	2	2	0	1	10	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:91631454T>G	ENST00000359028.2	+	9	2484	c.2259T>G	c.(2257-2259)ctT>ctG	p.L753L	AKAP9_ENST00000358100.2_Silent_p.L753L|AKAP9_ENST00000356239.3_Silent_p.L741L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	753	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGGTACACTTGAACAAGAAG	0.294			T	BRAF	papillary thyroid								10	53					0	0	0	0	G	91631454	T	G	91631454	2	3	292	1	0	0	0	0	0	0	0	1	459	1799	63	5		5	AKAP9	7	91631454	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	5236720	91631454	67507209	229	51883											
DYNC1I1	1780	broad.mit.edu	37	chr7	95668588	95668588	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgtgtgctcttcctacaGcaaagcaggtattggtgagg	9	12	12	8	0	2	1	1	1	1	0	3	1	3	1	1	3	4	4	1	3	3	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:95668588G>T	ENST00000324972.6	+	14	1608		c.e14-1		DYNC1I1_ENST00000447467.2_Splice_Site|DYNC1I1_ENST00000457059.1_Splice_Site|DYNC1I1_ENST00000437599.1_Splice_Site|DYNC1I1_ENST00000497626.1_Splice_Site|DYNC1I1_ENST00000537881.1_Splice_Site|DYNC1I1_ENST00000359388.4_Splice_Site	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1						vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCTTCCTACAGCAAAGCAGGT	0.448													33	161					2.49991e-28	5.17028e-28	1	0	T	95668588	G	T	95668588	5	4	292	1	0	0	0	0	0	0	1	0	4878	985	34	4	1465	4	DYNC1I1	7	95668588	Splice_Site	SNP	G	TCGA-CV-7245-01A-11D-2012-08	4037134	95668588	63470075	230	51884											
MUC17	140453	broad.mit.edu	37	chr7	100677500	100677500	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtatgcctgacagcaccacgCcggtagtcagttctgaggct	8	9	12	12	2	2	2	1	2	1	0	2	2	2	2	3	2	2	5	3	2	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:100677500C>A	ENST00000306151.4	+	3	2867	c.2803C>A	c.(2803-2805)Ccg>Acg	p.P935T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	935	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCACGCCGGTAGTCAG	0.517													130	553					1.03418e-33	2.1567e-33	1	0	A	100677500	C	A	100677500	3	1	292	1	0	0	0	0	1	0	0	0	10044	739	26	4	2813	4	MUC17	7	100677500	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	5008912	100677500	58461163	231	51885											
RELN	5649	broad.mit.edu	37	chr7	103130227	103130227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcagatggcaccggtcGtgcagtatccgtgcccgctg	7	8	14	12	4	0	2	0	0	0	2	2	2	1	2	3	2	3	5	3	2	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:103130227G>T	ENST00000428762.1	-	60	9884	c.9725C>A	c.(9724-9726)aCg>aAg	p.T3242K	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.T3242K|RELN_ENST00000343529.5_Missense_Mutation_p.T3242K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3242	EGF-like 8.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGCACCGGTCGTGCAGTATCC	0.532													10	36					7.48243e-07	1.21392e-06	1	0	T	103130227	G	T	103130227	3	4	292	1	0	0	0	0	1	0	0	0	13302	1145	40	3	681	3	RELN	7	103130227	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2452727	103130227	56008436	232	51886											
RINT1	60561	broad.mit.edu	37	chr7	105177012	105177012	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgttattcttttgttgtagGtgacataaatgttacagttc	9	20	8	4	0	1	1	0	1	1	0	2	1	1	1	0	1	1	5	0	1	5	10			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:105177012G>A	ENST00000257700.2	+	3	320	c.88_splice	c.e3-1	p.S30_splice		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	30					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTGTTGTAGGTGACATAAAT	0.318													43	52					0	0	0	0	A	105177012	G	A	105177012	5	1	292	1	0	0	0	0	0	0	1	0	13461	1275	44	4	99	4	RINT1	7	105177012	Splice_Site	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2046785	105177012	53961651	233	51887											
PIK3CG	5294	broad.mit.edu	37	chr7	106508711	106508711	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagccagaccattaaggtCtcacccgacgacacccccgg	11	4	8	18	3	1	1	1	0	1	1	2	3	1	1	6	2	1	0	6	2	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:106508711C>G	ENST00000359195.3	+	2	1015	c.705C>G	c.(703-705)gtC>gtG	p.V235V	PIK3CG_ENST00000496166.1_Silent_p.V235V|PIK3CG_ENST00000440650.2_Silent_p.V235V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	235					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATTAAGGTCTCACCCGACG	0.547													35	84					0	0	0	0	G	106508711	C	G	106508711	2	3	292	1	0	0	0	0	0	0	0	1	11988	900	32	2		2	PIK3CG	7	106508711	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1331699	106508711	52629952	234	51888											
LAMB1	3912	broad.mit.edu	37	chr7	107599899	107599899	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattgcagaaggcattgaCagatccttgcagatggcact	11	9	13	8	0	0	4	0	1	0	3	1	5	1	5	1	3	2	4	1	3	1	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:107599899C>A	ENST00000393561.1	-	18	2741	c.2557G>T	c.(2557-2559)Gtc>Ttc	p.V853F	LAMB1_ENST00000222399.6_Missense_Mutation_p.V829F			P07942	LAMB1_HUMAN	laminin, beta 1	829	Laminin EGF-like 7.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGGCATTGACAGATCCTTGC	0.507													17	59					1.67942e-08	2.8112e-08	1	0	A	107599899	C	A	107599899	3	1	292	1	0	0	0	0	1	0	0	0	8663	478	17	4	2935	4	LAMB1	7	107599899	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1091188	107599899	51538764	235	51889											
RNF148	378925	broad.mit.edu	37	chr7	122342350	122342350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttgcttatcatcaccGcgactatattttccgtcccc	7	14	6	14	3	3	0	3	0	0	0	5	1	5	0	4	1	1	2	4	1	3	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:122342350G>A	ENST00000434824.1	-	1	671	c.455C>T	c.(454-456)gCg>gTg	p.A152V	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.A54V|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	152	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TATCATCACCGCGACTATATT	0.463													117	264					0	0	0	0	A	122342350	G	A	122342350	3	1	292	1	0	0	0	0	1	0	0	0	13534	1087	38	1	466	1	RNF148	7	122342350	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	14742451	122342350	36796313	236	51890											
PLXNA4	91584	broad.mit.edu	37	chr7	131866875	131866875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cattgatgtgctccttccctCcatgcttggcacggatctgg	5	13	10	13	1	1	1	0	1	1	0	4	2	4	2	3	3	2	3	3	3	0	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:131866875C>T	ENST00000359827.3	-	17	4195	c.3233G>A	c.(3232-3234)gGa>gAa	p.G1078E	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1078E			Q9HCM2	PLXA4_HUMAN	plexin A4	1078	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCCTTCCCTCCATGCTTGGC	0.557													24	37					0	0	0	0	T	131866875	C	T	131866875	3	4	292	1	0	0	0	0	1	0	0	0	12194	855	30	2	2515	2	PLXNA4	7	131866875	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	9524525	131866875	27271788	237	51891											
DGKI	9162	broad.mit.edu	37	chr7	137148340	137148340	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgtttccgcagggcaggaTtccaccagtctgagatcctg	7	10	12	12	2	1	1	0	1	1	1	4	3	4	2	4	2	1	3	4	2	0	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:137148340T>C	ENST00000424189.2	-	28	2922	c.2693A>G	c.(2692-2694)aAt>aGt	p.N898S	DGKI_ENST00000288490.5_Missense_Mutation_p.N885S|DGKI_ENST00000453654.1_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.N867S			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	885					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CAGGGCAGGATTCCACCAGTC	0.502													24	30					0	0	0	0	C	137148340	T	C	137148340	3	2	292	1	0	0	0	0	1	0	0	0	4508	1493	52	5	571	5	DGKI	7	137148340	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	5281465	137148340	21990323	238	51892											
UBN2	254048	broad.mit.edu	37	chr7	138944065	138944065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagcggaagcggaaagAggaaggggaaaaggagaaga	20	0	19	2	2	0	4	0	0	0	4	0	10	0	8	0	6	2	0	0	6	8	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:138944065A>G	ENST00000288561.8	+	5	854	c.605A>G	c.(604-606)gAg>gGg	p.E202G	UBN2_ENST00000473989.2_Missense_Mutation_p.E285G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	285										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAGCGGAAAGAGGAAGGGGAA	0.388													10	63					0	0	0	0	G	138944065	A	G	138944065	3	3	292	1	0	0	0	0	1	0	0	0	16989	304	11	5	872	5	UBN2	7	138944065	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	1795725	138944065	20194598	239	51893											
BRAF	673	broad.mit.edu	37	chr7	140482832	140482832	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcttaccattcgattccTgtcttctgaggatgaagatg	9	15	8	9	1	3	3	0	2	3	1	5	5	4	4	2	1	2	0	2	1	3	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:140482832T>G	ENST00000288602.6	-	10	1363	c.1303A>C	c.(1303-1305)Agg>Cgg	p.R435R		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	435					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ATTCGATTCCTGTCTTCTGAG	0.388		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	30					0	0	0	0	G	140482832	T	G	140482832	2	3	292	1	0	0	0	0	0	0	0	1	1504	1579	55	5		5	BRAF	7	140482832	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	1538767	140482832	18655831	240	51894											
TRPV5	56302	broad.mit.edu	37	chr7	142625329	142625329	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcaggtgctggaacaTctgagagaccaccaggatga	12	7	12	10	0	2	3	1	2	1	1	2	6	2	5	2	3	3	2	2	3	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:142625329T>C	ENST00000265310.1	-	7	1111	c.762_splice	c.e7-1	p.M255_splice	TRPV5_ENST00000442623.1_Splice_Site_p.M255_splice	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	255					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGCTGGAACATCTGAGAGACC	0.567													13	93					0	0	0	0	C	142625329	T	C	142625329	5	2	292	1	0	0	0	0	0	0	1	0	16694	1449	50	5	1462	5	TRPV5	7	142625329	Splice_Site	SNP	T	TCGA-CV-7245-01A-11D-2012-08	2142497	142625329	16513334	241	51895											
KEL	3792	broad.mit.edu	37	chr7	142640671	142640671	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taagcattgacgtcccaaggGgacaccttccacctgtggga	10	8	11	12	1	0	1	0	1	0	0	2	3	2	3	4	3	1	1	4	3	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:142640671G>T	ENST00000355265.2	-	15	2079	c.1605C>A	c.(1603-1605)tcC>tcA	p.S535S		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	535					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGTCCCAAGGGGACACCTTCC	0.552													13	57					2.68362e-12	4.84892e-12	1	0	T	142640671	G	T	142640671	2	4	292	1	0	0	0	0	0	0	0	1	8194	1219	43	4		4	KEL	7	142640671	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	15342	142640671	16497992	242	51896											
TAS2R41	259287	broad.mit.edu	37	chr7	143175187	143175187	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactactctgcccagaaggtCgagtactctgggggtctcgg	7	10	13	11	2	3	1	0	0	3	1	5	2	3	1	1	4	4	1	1	4	4	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:143175187C>A	ENST00000408916.1	+	1	222	c.222C>A	c.(220-222)gtC>gtA	p.V74V	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	74					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCCAGAAGGTCGAGTACTCTG	0.552													25	110					2.21704e-12	4.02038e-12	1	0	A	143175187	C	A	143175187	2	1	292	1	0	0	0	0	0	0	0	1	15670	871	31	3		3	TAS2R41	7	143175187	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	534516	143175187	15963476	243	51897											
OR2F1	26211	broad.mit.edu	37	chr7	143657334	143657334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttgcagaacataaaGccatcccattccagagctgt	12	12	6	11	0	1	2	0	0	1	2	3	2	3	2	3	0	4	2	3	0	3	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:143657334G>T	ENST00000392899.1	+	1	308	c.271G>T	c.(271-273)Gcc>Tcc	p.A91S		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGAACATAAAGCCATCCCATT	0.502													49	178					7.77372e-23	1.50036e-22	1	0	T	143657334	G	T	143657334	3	4	292	1	0	0	0	0	1	0	0	0	11067	971	34	4	273	4	OR2F1	7	143657334	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	482147	143657334	15481329	244	51898											
VIPR2	7434	broad.mit.edu	37	chr7	158835786	158835786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtagagaacgtcgtcCttgaccagcactgagatggc	10	8	13	10	2	0	3	0	2	0	2	2	6	1	4	2	2	2	2	2	2	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:158835786C>A	ENST00000262178.2	-	6	722	c.537G>T	c.(535-537)aaG>aaT	p.K179N	VIPR2_ENST00000377633.3_Missense_Mutation_p.K163N|VIPR2_ENST00000402066.1_Missense_Mutation_p.K320N	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	179					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GAACGTCGTCCTTGACCAGCA	0.587													13	40					0.000151284	0.000229101	1	0	A	158835786	C	A	158835786	3	1	292	1	0	0	0	0	1	0	0	0	17266	680	24	4	811	4	VIPR2	7	158835786	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	15178452	158835786	302877	245	51899											
MYOM2	9172	broad.mit.edu	37	chr8	2044190	2044190	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggtggctcgcccatcctGggctactacctggacaagcg	7	8	13	13	2	0	0	0	0	0	0	2	1	1	1	3	4	3	2	3	4	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:2044190G>T	ENST00000262113.4	+	18	2370	c.2229G>T	c.(2227-2229)ctG>ctT	p.L743L	MYOM2_ENST00000523438.1_Silent_p.L168L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	743	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGCCCATCCTGGGCTACTACC	0.532													13	60					1.5842e-08	2.66967e-08	1	0	T	2044190	G	T	2044190	2	4	292	1	0	0	0	0	0	0	0	1	10162	1335	47	4		4	MYOM2	8	2044190	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08		2044190	144319832	246	51900											
DLC1	10395	broad.mit.edu	37	chr8	13356615	13356615	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggtggccagggtctcCtttaattgtaaacactgcat	8	13	10	10	0	1	0	0	0	1	0	3	0	2	0	3	3	2	2	3	3	3	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:13356615C>T	ENST00000276297.4	-	2	1375	c.966G>A	c.(964-966)aaG>aaA	p.K322K	DLC1_ENST00000316609.5_Silent_p.K322K|DLC1_ENST00000511869.1_Silent_p.K322K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	322					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCAGGGTCTCCTTTAATTGTA	0.428													16	44					0	0	0	0	T	13356615	C	T	13356615	2	4	292	1	0	0	0	0	0	0	0	1	4587	680	24	4		4	DLC1	8	13356615	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	11312425	13356615	133007407	247	51901											
NUDT18	79873	broad.mit.edu	37	chr8	21965720	21965720	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcagtgtctcgggctcAcagtgcagccccgcctcctc	6	7	11	17	2	2	0	1	0	1	0	5	1	3	0	4	1	3	3	4	1	0	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:21965720A>T	ENST00000309188.6	-	4	418	c.300T>A	c.(298-300)tgT>tgA	p.C100*	NUDT18_ENST00000522405.1_Nonsense_Mutation_p.C23*|NUDT18_ENST00000521807.2_3'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	100	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		TCTCGGGCTCACAGTGCAGCC	0.697													3	22					0	0	0	0	T	21965720	A	T	21965720	4	4	292	1	0	0	0	0	0	1	0	0	10806	157	6	5	679	5	NUDT18	8	21965720	Nonsense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	8609105	21965720	124398302	248	51902											
DUSP4	1846	broad.mit.edu	37	chr8	29207392	29207392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagatgtcggtgcgctcgGcgttgcggcgcagcgcctgc	3	7	18	13	7	0	1	0	0	0	1	2	1	0	1	1	4	4	4	1	4	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:29207392G>A	ENST00000240100.2	-	1	793	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	135	Rhodanese.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GGTGCGCTCGGCGTTGCGGCG	0.687													13	16					0	0	0	0	A	29207392	G	A	29207392	3	1	292	1	0	0	0	0	1	0	0	0	4863	1203	42	4	960	4	DUSP4	8	29207392	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	7241672	29207392	117156630	249	51903											
ADAM2	2515	broad.mit.edu	37	chr8	39682336	39682336	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagagatcataaaaaacatAcctgaaaatcttggtcaagt	20	9	6	6	0	3	2	2	1	1	1	3	3	3	2	1	1	2	0	1	1	8	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:39682336A>T	ENST00000265708.4	-	4	371		c.e4+1		ADAM2_ENST00000521880.1_Splice_Site|ADAM2_ENST00000379853.2_Splice_Site|ADAM2_ENST00000347580.4_Splice_Site|ADAM2_ENST00000523181.1_Splice_Site	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2						cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TAAAAAACATACCTGAAAATC	0.318													6	30					0	0	0	0	T	39682336	A	T	39682336	5	4	292	1	0	0	0	0	0	0	1	0	241	405	14	5	2006	5	ADAM2	8	39682336	Splice_Site	SNP	A	TCGA-CV-7245-01A-11D-2012-08	10474944	39682336	106681686	250	51904											
ADAM2	2515	broad.mit.edu	37	chr8	39682394	39682394	+	Nonsense_Mutation	SNP	T	T	A																															gccactataactgtaaactcTaaaattatggggtaaaaagt																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:39682394T>A	ENST00000265708.4	-	4	314	c.211A>T	c.(211-213)Aga>Tga	p.R71*	ADAM2_ENST00000521880.1_Nonsense_Mutation_p.R71*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.R71*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.R71*|ADAM2_ENST00000523181.1_5'UTR	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	71					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTGTAAACTCTAAAATTATGG	0.264													13	34					0	0	0	0	A	39682394	T	A	39682394	4	1	292	1	0	0	0	0	0	1	0	0	241	1530	53	5	2064	5	ADAM2	8	39682394	Nonsense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	58	39682394	106681628	251	51905	409	2									
ADAM2	2515	broad.mit.edu	37	chr8	39682401	39682401	+	Missense_Mutation	SNP	A	A	T																															taactgtaaactctaaaattAtggggtaaaaagtttctgta																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:39682401A>T	ENST00000265708.4	-	4	307	c.204T>A	c.(202-204)caT>caA	p.H68Q	ADAM2_ENST00000521880.1_Missense_Mutation_p.H68Q|ADAM2_ENST00000379853.2_Missense_Mutation_p.H68Q|ADAM2_ENST00000347580.4_Missense_Mutation_p.H68Q|ADAM2_ENST00000523181.1_5'UTR	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	68					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTCTAAAATTATGGGGTAAAA	0.269													13	33					0	0	0	0	T	39682401	A	T	39682401	3	4	292	1	0	0	0	0	1	0	0	0	241	446	16	5	2071	5	ADAM2	8	39682401	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	7	39682401	106681621	252	51906	409	2									
SNTG1	54212	broad.mit.edu	37	chr8	51449264	51449264	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcatgctcgtcgtggccGacgtctccaggcttgaggtg	5	12	13	11	4	2	1	1	1	1	0	5	2	2	1	2	3	1	2	2	3	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:51449264G>T	ENST00000522124.1	+	11	1237	c.576G>T	c.(574-576)ccG>ccT	p.P192P	SNTG1_ENST00000518864.1_Silent_p.P192P|SNTG1_ENST00000276467.5_Silent_p.P192P|SNTG1_ENST00000517473.1_Silent_p.P192P	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	192					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CGTCGTGGCCGACGTCTCCAG	0.463													35	131					5.43694e-19	1.0777e-18	1	0	T	51449264	G	T	51449264	2	4	292	1	0	0	0	0	0	0	0	1	14962	1045	37	3		3	SNTG1	8	51449264	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	11766863	51449264	94914758	253	51907											
ST18	9705	broad.mit.edu	37	chr8	53045843	53045843	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacgtgccccgagccatcGcagcctggggttggacacct	6	7	13	15	3	1	0	1	0	0	0	2	2	1	1	5	3	3	2	5	3	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:53045843G>A	ENST00000276480.7	-	20	3002	c.2319C>T	c.(2317-2319)tgC>tgT	p.C773C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	773						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCGAGCCATCGCAGCCTGGGG	0.522													16	70					0	0	0	0	A	53045843	G	A	53045843	2	1	292	1	0	0	0	0	0	0	0	1	15302	1079	38	1		1	ST18	8	53045843	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1596579	53045843	93318179	254	51908											
RP1	6101	broad.mit.edu	37	chr8	55538431	55538431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaaaaaatgaaaagaaGattttgtcatctgttgccag	15	12	7	7	0	2	3	1	1	1	2	3	3	3	3	2	0	1	1	2	0	6	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:55538431G>T	ENST00000220676.1	+	4	2137	c.1989G>T	c.(1987-1989)aaG>aaT	p.K663N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	663			K -> N (in RP1; uncertain pathogenicity).		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATGAAAAGAAGATTTTGTCAT	0.363													8	33					1.06961e-07	1.7668e-07	1	0	T	55538431	G	T	55538431	3	4	292	1	0	0	0	0	1	0	0	0	13617	933	33	2	1999	2	RP1	8	55538431	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2492588	55538431	90825591	255	51909											
ADHFE1	137872	broad.mit.edu	37	chr8	67357536	67357536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctctaccatggacacctGtaaggctgctaatctgtatg	9	12	10	10	0	2	0	0	0	2	0	2	1	2	1	2	3	2	5	2	3	4	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:67357536G>A	ENST00000396623.3	+	6	468	c.437G>A	c.(436-438)tGt>tAt	p.C146Y	ADHFE1_ENST00000415254.1_Missense_Mutation_p.C98Y|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.C146Y	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	146					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)			ATGGACACCTGTAAGGCTGCT	0.478													35	116					0	0	0	0	A	67357536	G	A	67357536	3	1	292	1	0	0	0	0	1	0	0	0	314	1377	48	4	459	4	ADHFE1	8	67357536	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	11819105	67357536	79006486	256	51910											
LRRCC1	85444	broad.mit.edu	37	chr8	86042283	86042283	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttcttgcattgaaagaaCaggaacacaggtaaatgaaa	19	8	8	6	0	1	3	0	2	1	1	1	4	1	4	0	2	4	2	0	2	7	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:86042283C>A	ENST00000414626.2	+	10	2585	c.1696C>A	c.(1696-1698)Cag>Aag	p.Q566K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.Q586K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	586					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATTGAAAGAACAGGAACACAG	0.348													13	49					4.36969e-10	7.59385e-10	1	0	A	86042283	C	A	86042283	3	1	292	1	0	0	0	0	1	0	0	0	9090	479	17	4	1798	4	LRRCC1	8	86042283	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	18684747	86042283	60321739	257	51911											
CA3	761	broad.mit.edu	37	chr8	86351950	86351950	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttcctaggtcctgaccActggcatgaacttttcccaa	9	14	6	12	0	0	2	0	2	0	0	3	2	3	2	4	2	1	1	4	2	4	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:86351950A>T	ENST00000285381.2	+	2	127	c.44A>T	c.(43-45)cAc>cTc	p.H15L		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	15					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGTCCTGACCACTGGCATGAA	0.473													9	25					0	0	0	0	T	86351950	A	T	86351950	3	4	292	1	0	0	0	0	1	0	0	0	2542	159	6	5	50	5	CA3	8	86351950	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	309667	86351950	60012072	258	51912											
ATP6V1C1	528	broad.mit.edu	37	chr8	104054596	104054596	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggatgtcttggttggctTgtcagatgaactggctaaac	8	14	13	6	0	2	2	1	1	1	1	2	3	2	3	0	4	2	4	0	4	3	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:104054596T>G	ENST00000395862.3	+	3	320	c.161T>G	c.(160-162)tTg>tGg	p.L54W	ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.L54W|ATP6V1C1_ENST00000521514.1_5'UTR|ATP6V1C1_ENST00000518857.1_Intron	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	54					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TTGGTTGGCTTGTCAGATGAA	0.363													75	45					0	0	0	0	G	104054596	T	G	104054596	3	3	292	1	0	0	0	0	1	0	0	0	1184	1821	63	5	167	5	ATP6V1C1	8	104054596	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	17702646	104054596	42309426	259	51913											
PKHD1L1	93035	broad.mit.edu	37	chr8	110509197	110509197	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaatgaagcccatggaggTttatatgggatctatatgaa	14	11	11	5	0	1	2	0	2	1	0	1	5	1	4	1	3	1	1	1	3	7	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:110509197T>A	ENST00000378402.5	+	64	10481	c.10377T>A	c.(10375-10377)ggT>ggA	p.G3459G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3459					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCCATGGAGGTTTATATGGGA	0.388										HNSCC(38;0.096)			38	93					0	0	0	0	A	110509197	T	A	110509197	2	1	292	1	0	0	0	0	0	0	0	1	12044	1712	60	5		5	PKHD1L1	8	110509197	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	6454601	110509197	35854825	260	51914											
CSMD3	114788	broad.mit.edu	37	chr8	113694687	113694687	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacctccacattttggaatCagtccactccacattacttt	10	15	3	13	0	1	0	1	0	0	0	4	1	4	1	4	1	2	0	4	1	3	5	rs147640061		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:113694687C>T	ENST00000297405.5	-	16	2905	c.2661G>A	c.(2659-2661)ctG>ctA	p.L887L	CSMD3_ENST00000352409.3_Silent_p.L887L|CSMD3_ENST00000343508.3_Silent_p.L847L|CSMD3_ENST00000455883.2_Silent_p.L783L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	887	Sushi 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTTTGGAATCAGTCCACTCC	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	88					0	0	0	0	T	113694687	C	T	113694687	2	4	292	1	0	0	0	0	0	0	0	1	3978	813	29	2		2	CSMD3	8	113694687	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3185490	113694687	32669335	261	51915											
CSMD3	114788	broad.mit.edu	37	chr8	114111075	114111075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atatgagtgaaattgtgtccCcaggctctgctacaatggtc	10	12	10	9	0	1	2	0	2	1	0	3	2	2	2	2	2	2	2	2	2	4	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:114111075C>T	ENST00000297405.5	-	5	1071	c.827G>A	c.(826-828)gGg>gAg	p.G276E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G276E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G236E|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Missense_Mutation_p.G276E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	276	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTGTGTCCCCAGGCTCTGC	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	24					0	0	0	0	T	114111075	C	T	114111075	3	4	292	1	0	0	0	0	1	0	0	0	3978	623	22	4	10564	4	CSMD3	8	114111075	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	416388	114111075	32252947	262	51916											
COL14A1	7373	broad.mit.edu	37	chr8	121290348	121290348	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatacaccttctctctccAggttgcaatggttcagttca	9	14	7	11	0	4	1	2	1	2	0	6	1	4	1	2	2	2	4	2	2	3	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:121290348A>T	ENST00000297848.3	+	27	3483		c.e27-1		COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCTCTCTCCAGGTTGCAATG	0.373													28	126					0	0	0	0	T	121290348	A	T	121290348	5	4	292	1	0	0	0	0	0	0	1	0	3701	202	7	5	3314	5	COL14A1	8	121290348	Splice_Site	SNP	A	TCGA-CV-7245-01A-11D-2012-08	7179273	121290348	25073674	263	51917											
MTBP	27085	broad.mit.edu	37	chr8	121475942	121475942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttagtacagaggattgacaAacagtaccaaacagaattct	17	9	7	8	0	1	3	0	1	1	2	1	4	1	4	1	1	4	2	1	1	6	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:121475942A>G	ENST00000305949.1	+	10	1033	c.988A>G	c.(988-990)Aac>Gac	p.N330D		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	330					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGATTGACAAACAGTACCAA	0.353													25	132					0	0	0	0	G	121475942	A	G	121475942	3	3	292	1	0	0	0	0	1	0	0	0	9982	14	1	5	1026	5	MTBP	8	121475942	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	185594	121475942	24888080	264	51918											
MYC	4609	broad.mit.edu	37	chr8	128753114	128753114	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccgtccaagcagaggaGcaaaagctcatttctgaaga	13	8	10	10	1	2	3	1	1	1	2	4	4	4	4	2	1	3	3	2	1	4	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:128753114G>A	ENST00000377970.2	+	3	1785	c.1275G>A	c.(1273-1275)gaG>gaA	p.E425E	MYC_ENST00000524013.1_Silent_p.E424E	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	410	Leucine-zipper.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAGCAGAGGAGCAAAAGCTCA	0.458		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"								42	282					0	0	0	0	A	128753114	G	A	128753114	2	1	292	1	0	0	0	0	0	0	0	1	10086	962	34	4		4	MYC	8	128753114	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	7277172	128753114	17610908	265	51919											
TG	7038	broad.mit.edu	37	chr8	134107379	134107379	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaggtcagttgccccaTgtcatccagccaagaagtgg	12	7	12	10	0	2	1	2	0	0	1	3	2	3	2	4	3	2	1	4	3	3	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:134107379T>C	ENST00000220616.4	+	42	7371	c.7331T>C	c.(7330-7332)aTg>aCg	p.M2444T	SLA_ENST00000517648.1_Intron|SLA_ENST00000338087.5_Intron|TG_ENST00000377869.1_Missense_Mutation_p.M2387T|SLA_ENST00000395352.3_Intron|TG_ENST00000542445.1_Missense_Mutation_p.M814T|TG_ENST00000519543.1_Missense_Mutation_p.M577T|SLA_ENST00000524345.1_Intron|SLA_ENST00000518565.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2444					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTTGCCCCATGTCATCCAGC	0.587													124	110					0	0	0	0	C	134107379	T	C	134107379	3	2	292	1	0	0	0	0	1	0	0	0	15907	1464	51	5	7497	5	TG	8	134107379	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	5354265	134107379	12256643	266	51920											
COL22A1	169044	broad.mit.edu	37	chr8	139824102	139824102	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccaatctgttcactgccTggggtgggaggccgctgggg	6	8	16	11	1	2	0	1	0	1	0	2	1	2	1	3	6	2	2	3	6	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:139824102T>A	ENST00000303045.6	-	9	1835	c.1389A>T	c.(1387-1389)ccA>ccT	p.P463P	COL22A1_ENST00000435777.1_Silent_p.P463P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	463	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTTCACTGCCTGGGGTGGGAG	0.602										HNSCC(7;0.00092)			8	30					0	0	0	0	A	139824102	T	A	139824102	2	1	292	1	0	0	0	0	0	0	0	1	3711	1567	55	5		5	COL22A1	8	139824102	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	5716723	139824102	6539920	267	51921											
GPR20	2843	broad.mit.edu	37	chr8	142367609	142367609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgcaggtgaggaagaGgatggagcagtgcatgttga	12	7	18	4	0	0	4	0	2	0	2	0	7	0	7	0	4	3	5	0	4	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:142367609G>A	ENST00000377741.3	-	2	505	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	139						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GTGAGGAAGAGGATGGAGCAG	0.687													13	58					0	0	0	0	A	142367609	G	A	142367609	3	1	292	1	0	0	0	0	1	0	0	0	6729	1000	35	4	665	4	GPR20	8	142367609	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2543507	142367609	3996413	268	51922											
PLEC	5339	broad.mit.edu	37	chr8	144996134	144996134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctttgtggcagccacctGcgaggcagtgacctcctctg	5	10	13	13	1	2	1	0	1	2	0	3	2	3	1	4	3	2	2	4	3	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:144996134G>T	ENST00000322810.4	-	32	8435	c.8266C>A	c.(8266-8268)Cag>Aag	p.Q2756K	PLEC_ENST00000527096.1_Missense_Mutation_p.Q2642K|PLEC_ENST00000398774.2_Missense_Mutation_p.Q2587K|PLEC_ENST00000354589.3_Missense_Mutation_p.Q2619K|PLEC_ENST00000354958.2_Missense_Mutation_p.Q2597K|PLEC_ENST00000345136.3_Missense_Mutation_p.Q2619K|PLEC_ENST00000357649.2_Missense_Mutation_p.Q2623K|PLEC_ENST00000436759.2_Missense_Mutation_p.Q2646K|PLEC_ENST00000356346.3_Missense_Mutation_p.Q2605K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2756	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAGCCACCTGCGAGGCAGTG	0.682													20	34					3.51602e-12	6.33009e-12	1	0	T	144996134	G	T	144996134	3	4	292	1	0	0	0	0	1	0	0	0	12124	1328	46	4	5792	4	PLEC	8	144996134	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2628525	144996134	1367888	269	51923											
BNC2	54796	broad.mit.edu	37	chr9	16437438	16437438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatggatttggtttctcCaaaccgcagaaactgctgaa	13	10	8	10	1	1	2	0	1	1	1	2	3	1	3	2	2	3	3	2	2	4	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:16437438C>T	ENST00000380672.4	-	6	811	c.754G>A	c.(754-756)Gga>Aga	p.G252R	BNC2_ENST00000545497.1_Missense_Mutation_p.G157R|BNC2_ENST00000380666.2_Missense_Mutation_p.G252R|BNC2_ENST00000380667.2_Missense_Mutation_p.G185R	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTGGTTTCTCCAAACCGCAGA	0.502													23	65					0	0	0	0	T	16437438	C	T	16437438	3	4	292	1	0	0	0	0	1	0	0	0	1480	603	21	4	2553	4	BNC2	9	16437438	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08		16437438	124775993	270	51924											
CDKN2A	1029	broad.mit.edu	37	chr9	21974763	21974763	+	Frame_Shift_Del	DEL	G	G	-																															cacctcctctacccgaccccGggccgcggccgtggccagcc																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:21974763delG	ENST00000304494.5	-	1	334	c.64delC	c.(64-66)ggfs	p.R22fs	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R22fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.R22fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.R22fs|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	22					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCCGACCCCGGGCCGCGGCC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			25	30	---	---	---	---					-	21974763	G	-	21974763	7	5	292	1	0	1	0	1	0	0	0	0	3190	1115	39	0	619	0	CDKN2A	9	21974763	Frame_Shift_Del	DEL	G	TCGA-CV-7245-01A-11D-2012-08	5537325	21974763	119238668	271	51925											
PLAA	9373	broad.mit.edu	37	chr9	26925866	26925866	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtcgagcacacagcagcAccatatagactgagctggaa	14	7	10	10	1	0	2	0	1	0	1	1	4	0	3	1	1	4	4	1	1	3	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:26925866A>G	ENST00000397292.3	-	6	1243	c.826T>C	c.(826-828)Tgc>Cgc	p.C276R	PLAA_ENST00000520884.1_Missense_Mutation_p.C276R	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	276					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ACACAGCAGCACCATATAGAC	0.418													21	13					0	0	0	0	G	26925866	A	G	26925866	3	3	292	1	0	0	0	0	1	0	0	0	12083	159	6	5	1597	5	PLAA	9	26925866	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	4951103	26925866	114287565	272	51926											
DDX58	23586	broad.mit.edu	37	chr9	32493895	32493895	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcctccaacttttcaattTttttgaaatcccaactttca	11	17	1	12	0	2	1	2	1	0	0	5	1	5	1	3	0	2	0	3	0	4	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:32493895T>G	ENST00000379882.1	-	2	309	c.152A>C	c.(151-153)aAa>aCa	p.K51T	DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000542096.1_Missense_Mutation_p.K25T|DDX58_ENST00000379883.2_Missense_Mutation_p.K96T			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	96	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CTTTTCAATTTTTTTGAAATC	0.294													19	5					0	0	0	0	G	32493895	T	G	32493895	3	3	292	1	0	0	0	0	1	0	0	0	4407	1841	64	5	2554	5	DDX58	9	32493895	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	5568029	32493895	108719536	273	51927											
APBA1	320	broad.mit.edu	37	chr9	72073080	72073080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtactgcaccttcttccTgcttttggctaatttctggg	4	19	8	10	0	2	0	0	0	2	0	3	0	3	0	2	2	3	4	2	2	2	8			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:72073080T>C	ENST00000265381.4	-	6	1729	c.1507A>G	c.(1507-1509)Agg>Ggg	p.R503G	APBA1_ENST00000470082.1_Intron	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	503	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ACCTTCTTCCTGCTTTTGGCT	0.368													8	54					0	0	0	0	C	72073080	T	C	72073080	3	2	292	1	0	0	0	0	1	0	0	0	757	1579	55	5	1038	5	APBA1	9	72073080	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	39579185	72073080	69140351	274	51928											
DAPK1	1612	broad.mit.edu	37	chr9	90321930	90321930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcggaggaaactgagtcGcctgctggacccgcccgacc	8	5	12	16	4	0	1	0	1	0	0	2	5	0	4	4	3	2	1	4	3	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:90321930G>A	ENST00000469640.2	+	27	4394	c.4019G>A	c.(4018-4020)cGc>cAc	p.R1340H	DAPK1_ENST00000358077.5_Missense_Mutation_p.R1315H|DAPK1_ENST00000472284.1_Missense_Mutation_p.R1315H|DAPK1_ENST00000408954.3_Missense_Mutation_p.R1315H|DAPK1_ENST00000491893.1_Missense_Mutation_p.R1249H			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1315	Death.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAACTGAGTCGCCTGCTGGAC	0.597									Chronic Lymphocytic Leukemia, Familial Clustering of				44	66					0	0	0	0	A	90321930	G	A	90321930	3	1	292	1	0	0	0	0	1	0	0	0	4268	1087	38	1	4042	1	DAPK1	9	90321930	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	18248850	90321930	50891501	275	51929											
LOC286238	286238	broad.mit.edu	37	chr9	91262250	91262250	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtaacttcttgcattataAaccaaactaacatgattttc	14	15	3	9	0	1	1	0	1	1	0	2	1	1	1	1	0	5	2	1	0	6	8			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:91262250A>T	ENST00000418343.2	-	0	501																											TTGCATTATAAACCAAACTAA	0.413													5	13					0	0	0	0	T	91262250	A	T	91262250	1	4	292	0	1	0	0	0	0	0	0	0	8933	29	1	5		5	LOC286238	9	91262250	RNA	SNP	A	TCGA-CV-7245-01A-11D-2012-08	940320	91262250	49951181	276	51930											
RNF20	56254	broad.mit.edu	37	chr9	104314536	104314536	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagaagcccagtctgacCtgaacaaggtaaccagaggg	14	5	13	9	0	1	5	0	3	1	2	1	6	1	5	3	2	3	1	3	2	4	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:104314536C>G	ENST00000389120.3	+	12	1612	c.1522C>G	c.(1522-1524)Ctg>Gtg	p.L508V		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	508					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCAGTCTGACCTGAACAAGGT	0.443													26	116					0	0	0	0	G	104314536	C	G	104314536	3	3	292	1	0	0	0	0	1	0	0	0	13558	680	24	4	1564	4	RNF20	9	104314536	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	13052286	104314536	36898895	277	51931											
OR13C2	392376	broad.mit.edu	37	chr9	107367190	107367190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtcagatgggctgaacagGtagaggaagctttgcttctc	10	10	13	8	0	2	3	1	1	1	2	3	4	2	4	0	3	3	4	0	3	3	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:107367190G>C	ENST00000542196.1	-	1	761	c.719C>G	c.(718-720)aCc>aGc	p.T240S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GGCTGAACAGGTAGAGGAAGC	0.403													21	90					0	0	0	0	C	107367190	G	C	107367190	3	2	292	1	0	0	0	0	1	0	0	0	11005	1261	44	4	240	4	OR13C2	9	107367190	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3052654	107367190	33846241	278	51932											
ZNF462	58499	broad.mit.edu	37	chr9	109687822	109687822	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagcagcaacagccaccGcagccaccaccaccgccgcc	10	2	8	21	3	0	0	0	0	0	0	0	0	0	0	8	0	6	4	8	0	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:109687822G>C	ENST00000277225.5	+	3	1918	c.1629G>C	c.(1627-1629)ccG>ccC	p.P543P	ZNF462_ENST00000457913.1_Silent_p.P543P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	543					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AACAGccaccgcagccaccac	0.592													5	32					0	0	0	0	C	109687822	G	C	109687822	2	2	292	1	0	0	0	0	0	0	0	1	18021	1074	38	3		3	ZNF462	9	109687822	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2320632	109687822	31525609	279	51933											
ZNF462	58499	broad.mit.edu	37	chr9	109691031	109691031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttttcccagtcgccccCgaagctgccagtccccctcg	4	10	8	19	3	1	0	0	0	1	0	5	1	3	0	6	0	2	1	6	0	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:109691031C>T	ENST00000277225.5	+	3	5127	c.4838C>T	c.(4837-4839)cCg>cTg	p.P1613L	ZNF462_ENST00000457913.1_Missense_Mutation_p.P1613L|ZNF462_ENST00000441147.2_Missense_Mutation_p.P458L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1613					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P1613L(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGTCGCCCCCGAAGCTGCCA	0.537													24	123					0	0	0	0	T	109691031	C	T	109691031	3	4	292	1	0	0	0	0	1	0	0	0	18021	652	23	1	4844	1	ZNF462	9	109691031	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3209	109691031	31522400	280	51934											
CTNNAL1	8727	broad.mit.edu	37	chr9	111735078	111735078	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatcagcatggtattttaaTagatctgctgccagctgtgt	9	15	10	7	0	2	2	1	1	1	1	2	2	2	2	1	1	4	4	1	1	3	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:111735078T>C	ENST00000374595.4	-	9	1303	c.1224A>G	c.(1222-1224)ctA>ctG	p.L408L	CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000325551.4_Silent_p.L408L|CTNNAL1_ENST00000488130.1_5'UTR			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	408					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GGTATTTTAATAGATCTGCTG	0.453													27	69					0	0	0	0	C	111735078	T	C	111735078	2	2	292	1	0	0	0	0	0	0	0	1	4047	1393	49	5		5	CTNNAL1	9	111735078	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	2044047	111735078	29478353	281	51935											
AKAP2	11217	broad.mit.edu	37	chr9	112811016	112811033	+	In_Frame_Del	DEL	CCCCCGGAGTCTCCTGGA	CCCCCGGAGTCTCCTGGA	-																															ccggggctgccgctcgccttCccccggagtctcctggaccc																								rs72207945		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:112811016_112811033delCCCCCGGAGTCTCCTGGA	ENST00000374525.1	+	1	41_58	c.37_54delCCCCCGGAGTCTCCTGGA	c.(37-54)del	p.PPESPG19del	AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000434623.2_In_Frame_Del_p.PPESPG19del|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron	NM_001004065.4	NP_001004065.2			A kinase (PRKA) anchor protein 2											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CGCTCGCCTTCCCCCGGAGTCTCCTGGACCCCCGGAGT	0.789													3	5	---	---	---	---					-	112811033	CCCCCGGAGTCTCCTGGA	-	112811016	7	5	292	1	0	1	0	1	0	0	0	0	451	855	30	0	39	0	AKAP2	9	112811016	In_Frame_Del	DEL	CCCCCGGAGTCTCCTGGA	TCGA-CV-7245-01A-11D-2012-08	1075938	112811016	28402415	282	51936											
ZNF883	169834	broad.mit.edu	37	chr9	115760475	115760475	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagggatgcaagacaagtgTagcctttcccacattcagta	12	10	9	10	0	2	1	2	0	0	1	3	2	3	2	2	1	2	3	2	1	4	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:115760475T>C	ENST00000427548.1	-	0	1338							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AAGACAAGTGTAGCCTTTCCC	0.368													42	67					0	0	0	0	C	115760475	T	C	115760475	1	2	292	0	1	0	0	0	0	0	0	0	18291	1638	57	5		5	ZNF883	9	115760475	RNA	SNP	T	TCGA-CV-7245-01A-11D-2012-08	2949459	115760475	25452956	283	51937											
TLR4	7099	broad.mit.edu	37	chr9	120476305	120476305	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcagatgaataagaccatCattggtgtgtcggtcctcag	10	12	11	8	1	3	3	3	1	0	2	5	3	4	3	2	2	0	0	2	2	2	2	rs140661916		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:120476305C>T	ENST00000355622.6	+	3	2000	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.I593I	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	633					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATAAGACCATCATTGGTGTGT	0.438													6	35					0	0	0	0	T	120476305	C	T	120476305	2	4	292	1	0	0	0	0	0	0	0	1	16047	816	29	2		2	TLR4	9	120476305	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	4715830	120476305	20737126	284	51938											
CDK9	1025	broad.mit.edu	37	chr9	130550933	130550933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacggagcagcaccaactcGccctcatcagtcagctctgc	10	6	8	17	2	4	0	3	0	1	0	5	1	4	1	2	1	5	3	2	1	1	0	rs11554104		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:130550933G>A	ENST00000373265.2	+	6	1066	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	CDK9_ENST00000373264.4_Missense_Mutation_p.A239T			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	239					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						GCACCAACTCGCCCTCATCAG	0.672													9	24					0	0	0	0	A	130550933	G	A	130550933	3	1	292	1	0	0	0	0	1	0	0	0	3180	1087	38	1	737	1	CDK9	9	130550933	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	10074628	130550933	10662498	285	51939											
VAV2	7410	broad.mit.edu	37	chr9	136635537	136635537	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctggaggccgaacgttcCcgggacttgtaggggtactt	6	9	15	11	3	0	0	0	0	0	0	1	3	1	2	3	5	2	3	3	5	3	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:136635537C>A	ENST00000371851.1	-	25	2605	c.2280G>T	c.(2278-2280)cgG>cgT	p.R760R	VAV2_ENST00000406606.3_Silent_p.R760R|VAV2_ENST00000371850.3_Silent_p.R770R			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	770	SH2.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCGAACGTTCCCGGGACTTGT	0.647													12	74					1.08611e-07	1.78521e-07	1	0	A	136635537	C	A	136635537	2	1	292	1	0	0	0	0	0	0	0	1	17228	610	22	4		4	VAV2	9	136635537	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	6084604	136635537	4577894	286	51940											
SNAPC4	6621	broad.mit.edu	37	chr9	139290116	139290116	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttctcctggatgaccTcctggtagaccatgttcagc	7	11	9	14	0	2	2	1	1	1	1	4	3	3	3	5	2	2	3	5	2	1	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:139290116T>A	ENST00000298532.2	-	3	652	c.284A>T	c.(283-285)gAg>gTg	p.E95V		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	95	SNAPC5-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CTGGATGACCTCCTGGTAGAC	0.632													88	152					0	0	0	0	A	139290116	T	A	139290116	3	1	292	1	0	0	0	0	1	0	0	0	14925	1551	54	5	4205	5	SNAPC4	9	139290116	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	2654579	139290116	1923315	287	51941											
ENTPD8	377841	broad.mit.edu	37	chr9	140329398	140329407	+	Frame_Shift_Del	DEL	CAGCCCCCAC	CAGCCCCCAC	-																															ccagaagagctggaccaaggCagcccccaccaccgccacca																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:140329398_140329407delCAGCCCCCAC	ENST00000371506.2	-	10	1630_1639	c.1447_1456delGTGGGGGCTG	c.(1447-1458)ccfs	p.VGAA483fs	ENTPD8_ENST00000344119.2_Frame_Shift_Del_p.VGAA446fs|ENTPD8_ENST00000472938.1_Frame_Shift_Del_p.VGAA483fs	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	483						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGGACCAAGGCAGCCCCCACCACCGCCACC	0.681													11	26	---	---	---	---					-	140329407	CAGCCCCCAC	-	140329398	7	5	292	1	0	1	0	1	0	0	0	0	5183	710	25	0	35	0	ENTPD8	9	140329398	Frame_Shift_Del	DEL	CAGCCCCCAC	TCGA-CV-7245-01A-11D-2012-08	1039282	140329398	884033	288	51942											
PNPLA7	375775	broad.mit.edu	37	chr9	140357226	140357226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtgaggtccgtctcatCtcggctgcccacgtcaatgg	5	11	13	12	3	3	1	2	1	2	0	6	1	4	1	2	4	1	2	2	4	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:140357226C>A	ENST00000406427.1	-	30	3739	c.3403G>T	c.(3403-3405)Gat>Tat	p.D1135Y	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.D716Y|PNPLA7_ENST00000277531.4_Missense_Mutation_p.D1110Y	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1110					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCCGTCTCATCTCGGCTGCCC	0.617													29	60					2.68265e-12	4.84892e-12	1	0	A	140357226	C	A	140357226	3	1	292	1	0	0	0	0	1	0	0	0	12242	913	32	2	649	2	PNPLA7	9	140357226	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	27828	140357226	856205	289	51943											
SFMBT2	57713	broad.mit.edu	37	chr10	7409710	7409710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagtcggccctgcggtcctCcccgtaaccgcagtagcgca	7	6	12	16	5	0	0	0	0	0	0	3	1	2	0	5	2	3	4	5	2	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:7409710C>T	ENST00000361972.4	-	4	427	c.337G>A	c.(337-339)Gag>Aag	p.E113K	SFMBT2_ENST00000397160.3_Missense_Mutation_p.E113K|SFMBT2_ENST00000379713.3_Missense_Mutation_p.E113K|SFMBT2_ENST00000379711.2_Missense_Mutation_p.E113K|SFMBT2_ENST00000397167.1_Missense_Mutation_p.E113K	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	113					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGCGGTCCTCCCCGTAACCG	0.597													11	26					0	0	0	0	T	7409710	C	T	7409710	3	4	292	1	0	0	0	0	1	0	0	0	14245	864	30	2	2419	2	SFMBT2	10	7409710	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08		7409710	128125037	290	51944											
SFMBT2	57713	broad.mit.edu	37	chr10	7409747	7409747	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcagaagcagcagctgcccGcacgtggtaatgatcgtggc	9	6	14	12	4	0	2	0	1	0	1	1	2	0	2	1	2	4	6	1	2	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:7409747G>C	ENST00000361972.4	-	4	390	c.300C>G	c.(298-300)tgC>tgG	p.C100W	SFMBT2_ENST00000397160.3_Missense_Mutation_p.C100W|SFMBT2_ENST00000379713.3_Missense_Mutation_p.C100W|SFMBT2_ENST00000379711.2_Missense_Mutation_p.C100W|SFMBT2_ENST00000397167.1_Missense_Mutation_p.C100W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	100					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCAGCTGCCCGCACGTGGTAA	0.567													6	26					0	0	0	0	C	7409747	G	C	7409747	3	2	292	1	0	0	0	0	1	0	0	0	14245	1079	38	3	2456	3	SFMBT2	10	7409747	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	37	7409747	128125000	291	51945											
ZNF33B	7582	broad.mit.edu	37	chr10	43089499	43089499	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttcaccacaatcatagTgtttcacaggtaccccatca	12	11	4	14	0	4	0	4	0	0	0	4	0	4	0	3	1	1	2	3	1	3	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:43089499T>C	ENST00000359467.3	-	5	1013	c.899A>G	c.(898-900)cAc>cGc	p.H300R	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	300						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ACAATCATAGTGTTTCACAGG	0.383													23	57					0	0	0	0	C	43089499	T	C	43089499	3	2	292	1	0	0	0	0	1	0	0	0	17950	1696	59	5	1441	5	ZNF33B	10	43089499	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	35679752	43089499	92445248	292	51946											
CXCL12	6387	broad.mit.edu	37	chr10	44871472	44871472	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttccccactttttcttctCtgcgcccccttagataaaat	7	17	3	14	1	2	1	0	0	2	1	4	1	3	1	4	0	1	0	4	0	3	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:44871472C>G	ENST00000374426.2	-	4	312	c.275G>C	c.(274-276)aGa>aCa	p.R92T	CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	TTTTTCTTCTCTGCGCCCCCT	0.398													14	88					0	0	0	0	G	44871472	C	G	44871472	3	3	292	1	0	0	0	0	1	0	0	0	4112	913	32	2	108	2	CXCL12	10	44871472	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1781973	44871472	90663275	293	51947											
PCDH15	65217	broad.mit.edu	37	chr10	55568470	55568470	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcaaagtgctgtgttgtaAccttcagagtttgctcctgg	7	16	10	8	0	2	1	2	0	0	1	3	1	3	1	2	1	3	5	2	1	2	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:55568470A>T	ENST00000395445.1	-	36	5734	c.5340T>A	c.(5338-5340)ggT>ggA	p.G1780G	PCDH15_ENST00000395446.1_Silent_p.G976G|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395442.1_Silent_p.G645G|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Silent_p.G714G|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGTGTTGTAACCTTCAGAGT	0.483										HNSCC(58;0.16)			6	19					0	0	0	0	T	55568470	A	T	55568470	2	4	292	1	0	0	0	0	0	0	0	1	11582	30	2	5		5	PCDH15	10	55568470	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	10696998	55568470	79966277	294	51948											
ANK3	288	broad.mit.edu	37	chr10	61830610	61830610	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagctttgggtttttctttTtgttcatcgtccacttcctt	4	21	7	9	1	2	0	1	0	1	0	5	1	4	0	2	1	1	3	2	1	1	8			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:61830610T>C	ENST00000280772.1	-	37	10220	c.10029A>G	c.(10027-10029)caA>caG	p.Q3343Q	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3343					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTTTTCTTTTTGTTCATCGT	0.403													43	85					0	0	0	0	C	61830610	T	C	61830610	2	2	292	1	0	0	0	0	0	0	0	1	622	1838	64	5		5	ANK3	10	61830610	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	6262140	61830610	73704137	295	51949											
ARID5B	84159	broad.mit.edu	37	chr10	63851213	63851213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaagacaaagacctgactgGgcccatgaacgagaaccatg	16	4	10	11	1	0	5	0	2	0	3	0	6	0	5	3	1	2	0	3	1	4	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:63851213G>T	ENST00000279873.7	+	10	2401	c.1991G>T	c.(1990-1992)gGg>gTg	p.G664V	ARID5B_ENST00000309334.5_Missense_Mutation_p.G421V	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	664					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GACCTGACTGGGCCCATGAAC	0.532													8	31					0.00307968	0.00453347	1	0	T	63851213	G	T	63851213	3	4	292	1	0	0	0	0	1	0	0	0	924	1232	43	4	2029	4	ARID5B	10	63851213	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2020603	63851213	71683534	296	51950											
JMJD1C	221037	broad.mit.edu	37	chr10	64960389	64960389	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattccccagtttgcttcAgcttcttgactttacgccaa	8	14	7	12	1	2	1	1	1	1	0	3	2	3	2	3	1	3	3	3	1	2	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:64960389A>C	ENST00000399262.2	-	11	5341	c.5123T>G	c.(5122-5124)cTg>cGg	p.L1708R	JMJD1C_ENST00000542921.1_Missense_Mutation_p.L1526R|JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000402544.1_Missense_Mutation_p.L1489R	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1708					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGTTTGCTTCAGCTTCTTGAC	0.373													3	16					0	0	0	0	C	64960389	A	C	64960389	3	2	292	1	0	0	0	0	1	0	0	0	8003	188	7	5	2563	5	JMJD1C	10	64960389	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	1109176	64960389	70574358	297	51951											
LRRTM3	347731	broad.mit.edu	37	chr10	68687888	68687888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgggagccacagagcccgGcccagagaccgatgctgacg	9	3	16	13	3	0	3	0	1	0	2	0	6	0	4	4	3	3	1	4	3	0	0	rs150432500		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:68687888G>T	ENST00000361320.4	+	2	1792	c.1214G>T	c.(1213-1215)gGc>gTc	p.G405V	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	405						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						ACAGAGCCCGGCCCAGAGACC	0.617													23	56					3.5997e-14	6.71005e-14	1	0	T	68687888	G	T	68687888	3	4	292	1	0	0	0	0	1	0	0	0	9105	1203	42	4	1220	4	LRRTM3	10	68687888	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3727499	68687888	66846859	298	51952											
DNAJC12	56521	broad.mit.edu	37	chr10	69571401	69571401	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaatctcctttgccttctGcagtttctgaaaagtctcca	9	14	6	12	0	4	2	0	1	4	1	6	2	4	2	3	0	2	2	3	0	3	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:69571401G>A	ENST00000225171.2	-	3	330	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	DNAJC12_ENST00000339758.7_Nonsense_Mutation_p.Q60*|DNAJC12_ENST00000483798.2_Nonsense_Mutation_p.Q90*	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	60	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TTTGCCTTCTGCAGTTTCTGA	0.458													23	69					0	0	0	0	A	69571401	G	A	69571401	4	1	292	1	0	0	0	0	0	1	0	0	4667	1328	46	4	457	4	DNAJC12	10	69571401	Nonsense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	883513	69571401	65963346	299	51953											
ZMIZ1	57178	broad.mit.edu	37	chr10	81050778	81050778	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcggcaaccccatggcGtcgggcatgaccaccagcaa	10	3	12	16	3	0	1	0	1	0	0	1	1	0	1	5	4	2	3	5	4	2	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:81050778G>C	ENST00000334512.5	+	10	1175	c.603G>C	c.(601-603)gcG>gcC	p.A201A	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	201					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACCCCATGGCGTCGGGCATGA	0.617													12	110					0	0	0	0	C	81050778	G	C	81050778	2	2	292	1	0	0	0	0	0	0	0	1	17791	1132	40	3		3	ZMIZ1	10	81050778	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	11479377	81050778	54483969	300	51954											
ANXA11	311	broad.mit.edu	37	chr10	81928966	81928966	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtttcctcctgggggtGgatacatcccatagggagga	7	10	16	8	0	0	0	0	0	0	0	3	3	3	3	3	6	1	1	3	6	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:81928966G>C	ENST00000438331.1	-	6	802	c.320C>G	c.(319-321)cCa>cGa	p.P107R	ANXA11_ENST00000360615.4_Missense_Mutation_p.P107R|ANXA11_ENST00000422982.3_Missense_Mutation_p.P107R|ANXA11_ENST00000372231.3_Missense_Mutation_p.P107R|ANXA11_ENST00000535999.1_Missense_Mutation_p.P107R|ANXA11_ENST00000265447.4_Missense_Mutation_p.P107R|ANXA11_ENST00000537102.1_Missense_Mutation_p.P74R	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	107					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TCCTGGGGGTGGATACATCCC	0.701													15	20					0	0	0	0	C	81928966	G	C	81928966	3	2	292	1	0	0	0	0	1	0	0	0	715	1348	47	4	1245	4	ANXA11	10	81928966	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	878188	81928966	53605781	301	51955											
NRG3	10718	broad.mit.edu	37	chr10	84498357	84498357	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagaaggctaccaaggagtCcgttgtgatcaatttctgcc	12	10	10	9	1	2	2	1	1	1	1	3	3	3	3	3	2	2	2	3	2	5	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:84498357C>A	ENST00000372142.2	+	4	589	c.315C>A	c.(313-315)gtC>gtA	p.V105V	NRG3_ENST00000404576.2_Silent_p.V130V|NRG3_ENST00000404547.1_Silent_p.V326V|NRG3_ENST00000372141.2_Silent_p.V326V|NRG3_ENST00000556918.1_Silent_p.V156V	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	326	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACCAAGGAGTCCGTTGTGATC	0.388													11	36					0.00010058	0.000152778	1	0	A	84498357	C	A	84498357	2	1	292	1	0	0	0	0	0	0	0	1	10720	842	30	2		2	NRG3	10	84498357	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2569391	84498357	51036390	302	51956											
LRIT1	26103	broad.mit.edu	37	chr10	85992290	85992290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctctgagggtcctgccCgcccatcagagagctctccc	5	8	11	17	1	3	2	1	1	2	1	5	3	4	2	5	1	3	1	5	1	0	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:85992290C>T	ENST00000372105.3	-	4	1286	c.1265G>A	c.(1264-1266)cGg>cAg	p.R422Q		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	422						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGGTCCTGCCCGCCCATCAGA	0.617													20	64					0	0	0	0	T	85992290	C	T	85992290	3	4	292	1	0	0	0	0	1	0	0	0	9011	652	23	1	610	1	LRIT1	10	85992290	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1493933	85992290	49542457	303	51957											
KIF20B	9585	broad.mit.edu	37	chr10	91497825	91497825	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcttccaaaaaaagtcAtcagattgaggaactggaac	15	8	9	9	0	3	2	2	1	1	1	4	4	4	4	2	3	2	0	2	3	5	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:91497825A>C	ENST00000416354.1	+	20	3389	c.3317A>C	c.(3316-3318)cAt>cCt	p.H1106P	KIF20B_ENST00000260753.4_Missense_Mutation_p.H1036P|KIF20B_ENST00000371728.3_Missense_Mutation_p.H1076P|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.H1076P			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1076					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAAAAGTCATCAGATTGAG	0.358													19	45					0	0	0	0	C	91497825	A	C	91497825	3	2	292	1	0	0	0	0	1	0	0	0	8338	217	8	5	3181	5	KIF20B	10	91497825	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	5505535	91497825	44036922	304	51958											
SLIT1	6585	broad.mit.edu	37	chr10	98803255	98803255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtggatgcagctgatgcgGttgttccgcagcattctggg	5	13	15	8	2	1	1	0	1	1	0	2	2	2	2	1	3	4	6	1	3	0	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:98803255G>T	ENST00000266058.4	-	19	2114	c.1869C>A	c.(1867-1869)aaC>aaA	p.N623K	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.N623K	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	623					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGCTGATGCGGTTGTTCCGCA	0.652													13	21					9.05144e-12	1.61506e-11	1	0	T	98803255	G	T	98803255	3	4	292	1	0	0	0	0	1	0	0	0	14827	1252	44	4	2811	4	SLIT1	10	98803255	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	7305430	98803255	36731492	305	51959											
C10orf2	56652	broad.mit.edu	37	chr10	102749399	102749399	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgttccaccccactgcAgggccaacaggcagtggaaa	10	6	12	13	0	1	0	0	0	1	0	2	1	2	1	4	4	2	3	4	4	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:102749399A>T	ENST00000370228.1	+	2	1428		c.e2-1		C10orf2_ENST00000311916.2_Splice_Site|C10orf2_ENST00000473656.1_Splice_Site	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2						cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACCCCACTGCAGGGCCAACAG	0.537													18	62					0	0	0	0	T	102749399	A	T	102749399	5	4	292	1	0	0	0	0	0	0	1	0	1607	202	7	5	1248	5	C10orf2	10	102749399	Splice_Site	SNP	A	TCGA-CV-7245-01A-11D-2012-08	3946144	102749399	32785348	306	51960											
LZTS2	84445	broad.mit.edu	37	chr10	102763890	102763890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttcagcagctgcgggaCagtctggacgagaatgaggc	10	6	16	9	2	2	2	1	1	1	1	2	6	2	4	0	3	4	3	0	3	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:102763890C>A	ENST00000370220.1	+	2	4098	c.1035C>A	c.(1033-1035)gaC>gaA	p.D345E	LZTS2_ENST00000370223.3_Missense_Mutation_p.D345E			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	345					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGCTGCGGGACAGTCTGGACG	0.632													11	40					6.40141e-05	9.78292e-05	1	0	A	102763890	C	A	102763890	3	1	292	1	0	0	0	0	1	0	0	0	9204	477	17	4	1041	4	LZTS2	10	102763890	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	14491	102763890	32770857	307	51961											
SLK	9748	broad.mit.edu	37	chr10	105762811	105762811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcaataaacagttcagaGaacataatggacatcaatga	20	7	7	7	0	2	2	2	1	0	1	2	4	2	3	0	1	3	2	0	1	7	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:105762811G>T	ENST00000369755.3	+	9	2420	c.1875G>T	c.(1873-1875)gaG>gaT	p.E625D	SLK_ENST00000335753.4_Missense_Mutation_p.E625D	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	625	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACAGTTCAGAGAACATAATGG	0.388													10	24					3.86212e-05	5.91129e-05	1	0	T	105762811	G	T	105762811	3	4	292	1	0	0	0	0	1	0	0	0	14836	933	33	2	1909	2	SLK	10	105762811	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2998921	105762811	29771936	308	51962											
ATRNL1	26033	broad.mit.edu	37	chr10	116930892	116930892	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatagtcagtcatggagtaCaaaaactcctactgttcttg	13	12	7	9	0	3	0	2	0	1	0	4	1	4	1	1	1	3	2	1	1	5	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:116930892C>G	ENST00000355044.3	+	8	1316	c.1190C>G	c.(1189-1191)aCa>aGa	p.T397R	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.Q368E	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	397						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCATGGAGTACAAAAACTCCT	0.383													42	41					0	0	0	0	G	116930892	C	G	116930892	3	3	292	1	0	0	0	0	1	0	0	0	1211	478	17	4	1220	4	ATRNL1	10	116930892	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	11168081	116930892	18603855	309	51963											
ADAM12	8038	broad.mit.edu	37	chr10	127738229	127738229	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagcagatcccaggggcaGgtttagcacctgaaacagaa	15	5	11	10	0	0	3	0	1	0	2	1	3	1	3	2	3	3	4	2	3	4	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:127738229G>C	ENST00000368679.4	-	15	1937	c.1628C>G	c.(1627-1629)cCt>cGt	p.P543R	ADAM12_ENST00000368676.4_Missense_Mutation_p.P543R|ADAM12_ENST00000467145.1_5'UTR	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	543	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCCAGGGGCAGGTTTAGCACC	0.473													32	36					0	0	0	0	C	127738229	G	C	127738229	3	2	292	1	0	0	0	0	1	0	0	0	236	1000	35	4	1245	4	ADAM12	10	127738229	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	10807337	127738229	7796518	310	51964											
EBF3	253738	broad.mit.edu	37	chr10	131639253	131639253	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggagtactgctggggacGtagcctcgcggggacacgct	6	7	18	10	4	0	0	0	0	0	0	1	3	0	3	1	6	3	4	1	6	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:131639253G>T	ENST00000368648.3	-	14	1461	c.1389C>A	c.(1387-1389)taC>taA	p.Y463*	EBF3_ENST00000355311.5_Nonsense_Mutation_p.Y472*	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	472					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGCTGGGGACGTAGCCTCGCG	0.547													41	80					2.40579e-17	4.69434e-17	1	0	T	131639253	G	T	131639253	4	4	292	1	0	0	0	0	0	1	0	0	4918	1140	40	3	278	3	EBF3	10	131639253	Nonsense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3901024	131639253	3895494	311	51965											
CYP2E1	1571	broad.mit.edu	37	chr10	135350720	135350720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccccatgaagcaacccGagacaccattttcagaggat	12	7	8	14	1	1	3	1	1	0	2	1	5	1	4	5	1	3	1	5	1	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:135350720G>T	ENST00000463117.2	+	9	1393	c.1121G>T	c.(1120-1122)cGa>cTa	p.R374L	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.R374L			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	374					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GAAGCAACCCGAGACACCATT	0.527									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				14	67					6.72482e-11	1.18932e-10	1	0	T	135350720	G	T	135350720	3	4	292	1	0	0	0	0	1	0	0	0	4202	1058	37	3	1147	3	CYP2E1	10	135350720	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3711467	135350720	184027	312	51966											
ART1	417	broad.mit.edu	37	chr11	3681167	3681167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgtgcgtgaggcgggcCgctcccgggcccactacctc	4	5	14	18	5	0	1	0	1	0	0	2	1	1	1	5	3	3	1	5	3	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:3681167C>T	ENST00000250693.1	+	3	519	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	140					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	TGAGGCGGGCCGCTCCCGGGC	0.667													13	33					0	0	0	0	T	3681167	C	T	3681167	3	4	292	1	0	0	0	0	1	0	0	0	1001	652	23	1	424	1	ART1	11	3681167	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08		3681167	131325349	313	51967											
OR52A1	23538	broad.mit.edu	37	chr11	5172865	5172865	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagacacagatgtgagcAatgcaggtattgaatgcttt	14	10	12	5	0	0	4	0	2	0	2	0	5	0	5	0	2	3	4	0	2	4	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:5172865A>G	ENST00000380367.1	-	2	1152	c.735T>C	c.(733-735)atT>atC	p.I245I	OR52A1_ENST00000328942.1_Silent_p.I245I			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	245					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTGAGCAATGCAGGTAT	0.428													13	43					0	0	0	0	G	5172865	A	G	5172865	2	3	292	1	0	0	0	0	0	0	0	1	11179	126	5	5		5	OR52A1	11	5172865	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	1491698	5172865	129833651	314	51968											
OR51B5	282763	broad.mit.edu	37	chr11	5364185	5364185	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtacagtcggttgaaggtGgtatcagcacaggcgagttt	9	10	16	6	2	1	1	1	1	0	0	2	2	1	1	0	5	2	5	0	5	3	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:5364185G>T	ENST00000300773.2	-	1	624	c.570C>A	c.(568-570)acC>acA	p.T190T	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTGAAGGTGGTATCAGCAC	0.428													48	71					2.59344e-38	5.44243e-38	1	0	T	5364185	G	T	5364185	2	4	292	1	0	0	0	0	0	0	0	1	11162	1335	47	4		4	OR51B5	11	5364185	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	191320	5364185	129642331	315	51969											
OR56A4	120793	broad.mit.edu	37	chr11	6023944	6023944	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggctgggaagctgatcgaCctgaggtcaaaccagaagat	13	6	13	9	1	1	4	1	2	0	2	2	6	1	5	2	3	2	2	2	3	3	0	rs144089765		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:6023944C>A	ENST00000330728.4	-	1	480	c.435G>T	c.(433-435)agG>agT	p.R145S		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTGATCGACCTGAGGTCAA	0.547													27	61					2.79863e-10	4.88906e-10	1	0	A	6023944	C	A	6023944	3	1	292	1	0	0	0	0	1	0	0	0	11206	506	18	4	664	4	OR56A4	11	6023944	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	659759	6023944	128982572	316	51970											
IPO7	10527	broad.mit.edu	37	chr11	9466672	9466672	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattgagaagcatggaggAtacaaattcagtgctccagt	14	10	11	6	0	1	2	1	2	0	1	2	5	2	4	1	2	3	2	1	2	3	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:9466672A>C	ENST00000379719.3	+	25	3190	c.3048A>C	c.(3046-3048)ggA>ggC	p.G1016G		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	1016					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGCATGGAGGATACAAATTCA	0.378													15	46					0	0	0	0	C	9466672	A	C	9466672	2	2	292	1	0	0	0	0	0	0	0	1	7850	320	12	5		5	IPO7	11	9466672	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	3442728	9466672	125539844	317	51971											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077157	19077157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttaagagatgacaggacaaCtgaaactggatgaatatgac	17	8	11	5	0	0	5	0	4	0	1	0	8	0	7	0	2	2	1	0	2	5	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:19077157C>A	ENST00000329773.2	-	2	880	c.793G>T	c.(793-795)Gtt>Ttt	p.V265F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	265					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GACAGGACAACTGAAACTGGA	0.478													26	37					7.33532e-06	1.14909e-05	1	0	A	19077157	C	A	19077157	3	1	292	1	0	0	0	0	1	0	0	0	9837	565	20	4	203	4	MRGPRX2	11	19077157	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	9610485	19077157	115929359	318	51972											
LUZP2	338645	broad.mit.edu	37	chr11	25004816	25004816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaatattgcctctaagcttCcagatgcagcggccaaaagc	12	8	10	11	1	1	1	0	0	1	1	2	2	2	2	3	2	5	2	3	2	5	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:25004816C>A	ENST00000533227.1	+	9	771	c.484C>A	c.(484-486)Cca>Aca	p.P162T	LUZP2_ENST00000336930.6_Missense_Mutation_p.P248T	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	248						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTCTAAGCTTCCAGATGCAGC	0.428													15	44					1.99824e-07	3.27371e-07	1	0	A	25004816	C	A	25004816	3	1	292	1	0	0	0	0	1	0	0	0	9151	855	30	2	776	2	LUZP2	11	25004816	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	5927659	25004816	110001700	319	51973											
PAX6	5080	broad.mit.edu	37	chr11	31823216	31823216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atactgggctattttgcttaCaacttctggagtcgctactc	8	15	8	10	1	1	0	0	0	1	0	3	1	1	1	0	2	5	3	0	2	5	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:31823216C>A	ENST00000419022.1	-	7	760	c.292G>T	c.(292-294)Gta>Tta	p.V98L	PAX6_ENST00000379132.3_Missense_Mutation_p.V84L|PAX6_ENST00000241001.8_Missense_Mutation_p.V84L|PAX6_ENST00000379129.2_Missense_Mutation_p.V98L|PAX6_ENST00000379115.4_Missense_Mutation_p.V98L|PAX6_ENST00000379123.5_Missense_Mutation_p.V84L|PAX6_ENST00000379111.2_Missense_Mutation_p.V84L|PAX6_ENST00000379107.2_Missense_Mutation_p.V98L	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	84	Paired.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					ATTTTGCTTACAACTTCTGGA	0.502									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				23	59					1.87028e-06	2.96227e-06	1	0	A	31823216	C	A	31823216	3	1	292	1	0	0	0	0	1	0	0	0	11554	478	17	4	1050	4	PAX6	11	31823216	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	6818400	31823216	103183300	320	51974											
CRY2	1408	broad.mit.edu	37	chr11	45892072	45892072	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccagcagctttcgcgctAccggggactctgtaaggaga	9	9	12	11	3	1	1	0	0	1	1	2	3	1	2	2	3	4	4	2	3	3	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:45892072A>T	ENST00000443527.2	+	9	1623	c.1601A>T	c.(1600-1602)tAc>tTc	p.Y534F	CRY2_ENST00000417225.2_Missense_Mutation_p.Y452F	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	513					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CTTTCGCGCTACCGGGGACTC	0.542													8	29					0	0	0	0	T	45892072	A	T	45892072	3	4	292	1	0	0	0	0	1	0	0	0	3934	391	14	5	1671	5	CRY2	11	45892072	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	14068856	45892072	89114444	321	51975											
PTPRJ	5795	broad.mit.edu	37	chr11	48168496	48168496	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgactgtgggaggcttcAtcttctggagaaagaagagg	10	11	15	5	0	3	4	1	1	2	3	3	6	3	5	0	4	0	1	0	4	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:48168496A>G	ENST00000418331.2	+	15	3332	c.2980A>G	c.(2980-2982)Atc>Gtc	p.I994V		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	994					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGAGGCTTCATCTTCTGGAG	0.398													96	115					0	0	0	0	G	48168496	A	G	48168496	3	3	292	1	0	0	0	0	1	0	0	0	12886	217	8	5	3047	5	PTPRJ	11	48168496	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	2276424	48168496	86838020	322	51976											
OR4C12	283093	broad.mit.edu	37	chr11	50003578	50003578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagagaatctgaatagttgCatgaagaaatcctcccaccc	16	8	7	10	0	1	4	0	2	1	2	3	5	3	4	3	0	1	2	3	0	6	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:50003578C>T	ENST00000335238.4	-	1	493	c.460G>A	c.(460-462)Gca>Aca	p.A154T		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TGAATAGTTGCATGAAGAAAT	0.478													42	162					0	0	0	0	T	50003578	C	T	50003578	3	4	292	1	0	0	0	0	1	0	0	0	11117	710	25	4	473	4	OR4C12	11	50003578	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1835082	50003578	85002938	323	51977											
OR4C46	119749	broad.mit.edu	37	chr11	51515337	51515337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggcttacagagaatcCaaagatgcagaaaatcatat	16	8	10	7	0	1	3	1	0	0	3	2	4	2	3	1	2	2	3	1	2	6	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:51515337C>A	ENST00000328188.1	+	1	56	c.56C>A	c.(55-57)cCa>cAa	p.P19Q		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ACAGAGAATCCAAAGATGCAG	0.363													20	98					0.000175454	0.000264901	1	0	A	51515337	C	A	51515337	3	1	292	1	0	0	0	0	1	0	0	0	11122	594	21	4	58	4	OR4C46	11	51515337	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1511759	51515337	83491179	324	51978											
TRIM48	79097	broad.mit.edu	37	chr11	55035843	55035843	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggcttttggagacatattAtacaggtgagtatgtacctg	11	13	11	6	0	0	2	0	1	0	1	0	3	0	2	1	3	2	3	1	3	5	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:55035843A>T	ENST00000417545.2	+	4	659	c.573A>T	c.(571-573)ttA>ttT	p.L191F		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	175						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GAGACATATTATACAGGTGAG	0.338													12	46					0	0	0	0	T	55035843	A	T	55035843	3	4	292	1	0	0	0	0	1	0	0	0	16618	446	16	5	587	5	TRIM48	11	55035843	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	3520506	55035843	79970673	325	51979											
OR5I1	10798	broad.mit.edu	37	chr11	55703379	55703379	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtcacaatatttcagaatAaaggcaaaggatgtgtgaac	16	11	9	5	0	2	2	2	1	0	1	2	3	2	3	0	2	1	1	0	2	7	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:55703379A>G	ENST00000301532.3	-	1	497	c.498T>C	c.(496-498)ttT>ttC	p.F166F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTTCAGAATAAAGGCAAAGG	0.413													28	28					0	0	0	0	G	55703379	A	G	55703379	2	3	292	1	0	0	0	0	0	0	0	1	11235	359	13	5		5	OR5I1	11	55703379	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	667536	55703379	79303137	326	51980											
OR5I1	10798	broad.mit.edu	37	chr11	55703773	55703773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaattatagcatacaatGtcagaaacatgaggaacagg	18	8	9	6	0	2	3	2	1	0	2	2	4	2	4	0	2	4	1	0	2	7	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:55703773G>A	ENST00000301532.3	-	1	103	c.104C>T	c.(103-105)aCa>aTa	p.T35I		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGCATACAATGTCAGAAACAT	0.393													8	28					0	0	0	0	A	55703773	G	A	55703773	3	1	292	1	0	0	0	0	1	0	0	0	11235	1377	48	4	843	4	OR5I1	11	55703773	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	394	55703773	79302743	327	51981											
OR5T3	390154	broad.mit.edu	37	chr11	56020200	56020200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtctatgtgccactcatCactgcttcctacgttgctgg	7	13	9	12	1	3	1	2	0	1	1	4	1	4	1	2	1	4	3	2	1	2	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56020200C>T	ENST00000303059.3	+	1	525	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGCCACTCATCACTGCTTCCT	0.433													99	120					0	0	0	0	T	56020200	C	T	56020200	2	4	292	1	0	0	0	0	0	0	0	1	11254	816	29	2		2	OR5T3	11	56020200	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	316427	56020200	78986316	328	51982											
OR8J1	219477	broad.mit.edu	37	chr11	56127929	56127929	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcaacatctggctctcatTaatcttggtaactctactgt	9	15	6	11	0	4	0	1	0	4	0	5	0	4	0	0	2	4	3	0	2	4	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56127929T>C	ENST00000303039.3	+	1	239	c.207T>C	c.(205-207)atT>atC	p.I69I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGGCTCTCATTAATCTTGGTA	0.453													27	108					0	0	0	0	C	56127929	T	C	56127929	2	2	292	1	0	0	0	0	0	0	0	1	11312	1742	61	5		5	OR8J1	11	56127929	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	107729	56127929	78878587	329	51983											
OR5M11	219487	broad.mit.edu	37	chr11	56309852	56309852	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaaggcctgcttcacatcTttattcctcagactgtagat	9	15	6	11	0	4	2	3	0	1	2	5	2	5	2	2	1	1	2	2	1	3	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56309852T>C	ENST00000528616.2	-	1	905	c.882A>G	c.(880-882)aaA>aaG	p.K294K		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GCTTCACATCTTTATTCCTCA	0.373													11	40					0	0	0	0	C	56309852	T	C	56309852	2	2	292	1	0	0	0	0	0	0	0	1	11245	1606	56	5		5	OR5M11	11	56309852	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	181923	56309852	78696664	330	51984											
OR5M1	390168	broad.mit.edu	37	chr11	56380575	56380575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagatgttcttggacatcCtggaactgtaatgcaaaggg	12	10	11	8	0	1	1	0	0	1	1	2	3	2	3	1	3	2	3	1	3	3	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56380575C>A	ENST00000526538.1	-	1	403	c.404G>T	c.(403-405)aGg>aTg	p.R135M		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CTTGGACATCCTGGAACTGTA	0.453													34	50					9.65963e-10	1.66712e-09	1	0	A	56380575	C	A	56380575	3	1	292	1	0	0	0	0	1	0	0	0	11243	681	24	4	547	4	OR5M1	11	56380575	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	70723	56380575	78625941	331	51985											
SMTNL1	219537	broad.mit.edu	37	chr11	57313764	57313764	+	Frame_Shift_Del	DEL	G	G	-																															aggcagccggggcagccattGgtggtgtcaagaacatgctc																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:57313764delG	ENST00000457912.1	+	6	1186	c.1186delG	c.(1186-1188)gtfs	p.G397fs	SMTNL1_ENST00000527972.1_Frame_Shift_Del_p.G379fs|SMTNL1_ENST00000399154.2_Frame_Shift_Del_p.G342fs			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	379										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GGCAGCCATTGGTGGTGTCAA	0.637													8	10	---	---	---	---					-	57313764	G	-	57313764	7	5	292	1	0	1	0	1	0	0	0	0	14903	1348	47	0	1208	0	SMTNL1	11	57313764	Frame_Shift_Del	DEL	G	TCGA-CV-7245-01A-11D-2012-08	933189	57313764	77692752	332	51986											
OR5B3	441608	broad.mit.edu	37	chr11	58170806	58170806	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgaaggggaacgttataAagaggggaacctgcagttct	14	8	14	5	1	1	3	0	1	1	2	1	5	1	5	1	4	3	3	1	4	6	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:58170806A>G	ENST00000309403.2	-	1	76	c.77T>C	c.(76-78)tTt>tCt	p.F26S		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACGTTATAAAGAGGGGAAC	0.413													24	68					0	0	0	0	G	58170806	A	G	58170806	3	3	292	1	0	0	0	0	1	0	0	0	11223	14	1	5	869	5	OR5B3	11	58170806	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	857042	58170806	76835710	333	51987											
TUT1	64852	broad.mit.edu	37	chr11	62343587	62343587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagattcagggggccaaggCgcagaccctcccagagatta	11	5	14	11	1	1	3	1	0	0	3	2	5	2	3	3	4	0	1	3	4	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:62343587C>T	ENST00000476907.1	-	9	2295	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	TUT1_ENST00000308436.7_Missense_Mutation_p.R573H|MIR3654_ENST00000496634.2_Intron			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	535	PAP-associated.				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGGGCCAAGGCGCAGACCCTC	0.622													11	39					0	0	0	0	T	62343587	C	T	62343587	3	4	292	1	0	0	0	0	1	0	0	0	16876	768	27	1	1024	1	TUT1	11	62343587	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	4172781	62343587	72662929	334	51988											
SLC22A11	55867	broad.mit.edu	37	chr11	64335111	64335111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actatgggctggtcttcgacCtgcagagcctgggccgtgac	6	9	14	12	2	1	2	0	1	1	1	2	3	1	2	3	3	2	2	3	3	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:64335111C>A	ENST00000301891.4	+	7	1473	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	SLC22A11_ENST00000377585.3_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.L367M	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	367					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GGTCTTCGACCTGCAGAGCCT	0.632													80	80					5.95195e-44	1.26227e-43	1	0	A	64335111	C	A	64335111	3	1	292	1	0	0	0	0	1	0	0	0	14530	680	24	4	1125	4	SLC22A11	11	64335111	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1991524	64335111	70671405	335	51989											
SLC22A12	116085	broad.mit.edu	37	chr11	64367324	64367324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcatccctgttgctggCagggctctgcattctggcca	4	10	13	14	1	2	0	0	0	2	0	3	0	3	0	3	4	2	6	3	4	0	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:64367324C>T	ENST00000377574.1	+	7	1994	c.1247C>T	c.(1246-1248)gCa>gTa	p.A416V	SLC22A12_ENST00000336464.7_Missense_Mutation_p.A382V|SLC22A12_ENST00000473690.1_Missense_Mutation_p.A195V|SLC22A12_ENST00000377572.1_Missense_Mutation_p.A308V|SLC22A12_ENST00000377567.2_Missense_Mutation_p.A308V	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	416					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTGTTGCTGGCAGGGCTCTGC	0.657													8	33					0	0	0	0	T	64367324	C	T	64367324	3	4	292	1	0	0	0	0	1	0	0	0	14531	710	25	4	1273	4	SLC22A12	11	64367324	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	32213	64367324	70639192	336	51990											
RHOD	29984	broad.mit.edu	37	chr11	66834226	66834226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcaagatgactatgacCgcctgcggcccctgttctac	8	8	11	14	2	1	3	0	2	1	1	1	3	1	3	4	2	2	2	4	2	3	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:66834226C>T	ENST00000308831.2	+	3	323	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	RHOD_ENST00000533360.1_Missense_Mutation_p.R80C|RHOD_ENST00000532559.1_Intron	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN	ras homolog family member D	80					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						TGACTATGACCGCCTGCGGCC	0.592													31	115					0	0	0	0	T	66834226	C	T	66834226	3	4	292	1	0	0	0	0	1	0	0	0	13420	652	23	1	248	1	RHOD	11	66834226	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2466902	66834226	68172290	337	51991											
LRP5	4041	broad.mit.edu	37	chr11	68177399	68177399	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaccatcagccgcgccttCatgaacgggagctcggtgga	9	6	13	13	4	2	2	2	1	0	1	3	4	2	4	3	3	3	1	3	3	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:68177399C>T	ENST00000294304.7	+	10	2215	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	703	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCGCGCCTTCATGAACGGGA	0.547													24	59					0	0	0	0	T	68177399	C	T	68177399	2	4	292	1	0	0	0	0	0	0	0	1	9024	825	29	2		2	LRP5	11	68177399	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1343173	68177399	66829117	338	51992											
CPT1A	1374	broad.mit.edu	37	chr11	68540781	68540781	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcacaaaggcgtctgggctCgtgcgacatttcttgatgat	8	12	12	9	3	2	2	0	2	2	0	3	3	2	2	0	2	2	2	0	2	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:68540781C>T	ENST00000265641.5	-	14	1846	c.1692G>A	c.(1690-1692)acG>acA	p.T564T	CPT1A_ENST00000376618.2_Silent_p.T564T|CPT1A_ENST00000540367.1_Silent_p.T564T|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000539743.1_Silent_p.T564T	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	564	Coenzyme A binding (By similarity).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CGTCTGGGCTCGTGCGACATT	0.527													11	47					0	0	0	0	T	68540781	C	T	68540781	2	4	292	1	0	0	0	0	0	0	0	1	3861	871	31	1		1	CPT1A	11	68540781	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	363382	68540781	66465735	339	51993											
GDPD5	81544	broad.mit.edu	37	chr11	75150960	75150960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcccacgatgagggtgaagGagaccaggtcggcagtgacc	10	5	16	10	2	0	4	0	3	0	1	1	6	0	4	3	4	1	1	3	4	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:75150960G>T	ENST00000526177.1	-	11	2984	c.1106C>A	c.(1105-1107)tCc>tAc	p.S369Y	GDPD5_ENST00000529721.1_Missense_Mutation_p.S507Y|GDPD5_ENST00000336898.3_Missense_Mutation_p.S507Y|GDPD5_ENST00000376282.3_Missense_Mutation_p.S388Y|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Missense_Mutation_p.S388Y|GDPD5_ENST00000533805.1_Missense_Mutation_p.S262Y			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	507	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GAGGGTGAAGGAGACCAGGTC	0.627													18	57					6.49762e-13	1.19123e-12	1	0	T	75150960	G	T	75150960	3	4	292	1	0	0	0	0	1	0	0	0	6378	1174	41	2	309	2	GDPD5	11	75150960	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	6610179	75150960	59855556	340	51994											
AMOTL1	154810	broad.mit.edu	37	chr11	94533100	94533100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggcgcataaggacgaGgcgctgaaggaactgaagca	14	3	16	8	3	0	2	0	2	0	0	0	6	0	5	0	5	2	3	0	5	4	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:94533100G>T	ENST00000433060.2	+	3	885	c.744G>T	c.(742-744)gaG>gaT	p.E248D	AMOTL1_ENST00000317829.8_Missense_Mutation_p.E198D|AMOTL1_ENST00000317837.9_Missense_Mutation_p.E248D	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	248						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ATAAGGACGAGGCGCTGAAGG	0.612													11	47					1.08611e-07	1.78521e-07	1	0	T	94533100	G	T	94533100	3	4	292	1	0	0	0	0	1	0	0	0	583	991	35	4	754	4	AMOTL1	11	94533100	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	19382140	94533100	40473416	341	51995											
KIAA1377	57562	broad.mit.edu	37	chr11	101834402	101834402	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatcactgccatcatattGttcttcagagtgccaaactt	11	13	5	12	0	4	1	3	0	1	1	4	1	4	1	3	0	3	1	3	0	2	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:101834402G>C	ENST00000263468.8	+	6	2906	c.2636G>C	c.(2635-2637)tGt>tCt	p.C879S	KIAA1377_ENST00000537689.1_Missense_Mutation_p.C680S	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	879							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCATCATATTGTTCTTCAGAG	0.418													24	18					0	0	0	0	C	101834402	G	C	101834402	3	2	292	1	0	0	0	0	1	0	0	0	8278	1377	48	4	2658	4	KIAA1377	11	101834402	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	7301302	101834402	33172114	342	51996											
CASP4	837	broad.mit.edu	37	chr11	104819393	104819393	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtctctgacccacagttcCccacggtttgctatggagac	8	10	10	13	1	1	2	0	1	1	1	3	4	2	2	3	2	1	3	3	2	1	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:104819393C>A	ENST00000444739.2	-	6	1702	c.792G>T	c.(790-792)ggG>ggT	p.G264G	CASP4_ENST00000393150.3_Silent_p.G208G	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	264					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCCACAGTTCCCCACGGTTTG	0.493													18	44					1.67942e-08	2.8112e-08	1	0	A	104819393	C	A	104819393	2	1	292	1	0	0	0	0	0	0	0	1	2698	610	22	4		4	CASP4	11	104819393	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2984991	104819393	30187123	343	51997											
GRIA4	2893	broad.mit.edu	37	chr11	105774688	105774688	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggccagggaattgacaTggagaggacactcaaacagg	14	5	15	7	0	1	2	1	1	0	1	1	5	1	4	1	6	1	0	1	6	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:105774688T>C	ENST00000393127.2	+	8	1480	c.1034T>C	c.(1033-1035)aTg>aCg	p.M345T	GRIA4_ENST00000393125.2_Missense_Mutation_p.M345T|GRIA4_ENST00000525187.1_Missense_Mutation_p.M345T|GRIA4_ENST00000282499.5_Missense_Mutation_p.M345T|GRIA4_ENST00000530497.1_Missense_Mutation_p.M345T|GRIA4_ENST00000428631.2_Missense_Mutation_p.M345T	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	345					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGAATTGACATGGAGAGGACA	0.398													18	76					0	0	0	0	C	105774688	T	C	105774688	3	2	292	1	0	0	0	0	1	0	0	0	6820	1464	51	5	1060	5	GRIA4	11	105774688	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	955295	105774688	29231828	344	51998											
AASDHPPT	60496	broad.mit.edu	37	chr11	105950303	105950303	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagttcttgcaaaggactCatcgaatccttacccgaatt	12	11	6	12	2	2	0	1	0	1	0	4	3	3	1	3	1	2	2	3	1	4	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:105950303C>G	ENST00000278618.4	+	2	515	c.293C>G	c.(292-294)tCa>tGa	p.S98*		NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	98					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GCAAAGGACTCATCGAATCCT	0.388													14	42					0	0	0	0	G	105950303	C	G	105950303	4	3	292	1	0	0	0	0	0	1	0	0	23	838	29	2	299	2	AASDHPPT	11	105950303	Nonsense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	175615	105950303	29056213	345	51999											
ARHGAP20	57569	broad.mit.edu	37	chr11	110485323	110485323	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccttggcgaagattttgaGgggaatgctcttcgggtagt	7	13	15	6	2	1	2	0	1	1	1	3	4	2	3	1	4	1	2	1	4	3	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:110485323G>C	ENST00000260283.4	-	7	876	c.592C>G	c.(592-594)Ctc>Gtc	p.L198V	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L172V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L175V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L162V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L162V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L172V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	198	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AAGATTTTGAGGGGAATGCTC	0.413													10	35					0	0	0	0	C	110485323	G	C	110485323	3	2	292	1	0	0	0	0	1	0	0	0	872	1000	35	4	3023	4	ARHGAP20	11	110485323	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	4535020	110485323	24521193	346	52000											
BCL9L	283149	broad.mit.edu	37	chr11	118772310	118772310	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggatccatctgtcggtgCgcctgcatcatccgctccat	6	10	10	15	3	2	0	1	0	1	0	6	1	5	1	4	2	2	3	4	2	0	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:118772310C>A	ENST00000334801.3	-	6	3106	c.2142G>T	c.(2140-2142)gcG>gcT	p.A714A	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	714	Met-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCTGTCGGTGCGCCTGCATCA	0.662													20	54					5.35267e-07	8.72642e-07	1	0	A	118772310	C	A	118772310	2	1	292	1	0	0	0	0	0	0	0	1	1386	755	27	3		3	BCL9L	11	118772310	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	8286987	118772310	16234206	347	52001											
VPS11	55823	broad.mit.edu	37	chr11	118944567	118944567	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttgccaagagccagcatCtggacagtgatgggctggcc	9	7	13	12	0	1	2	0	1	1	1	1	3	1	3	4	3	3	2	4	3	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:118944567C>G	ENST00000300793.6	+	8	1183	c.1141C>G	c.(1141-1143)Ctg>Gtg	p.L381V	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	382					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GAGCCAGCATCTGGACAGTGA	0.478													7	24					0	0	0	0	G	118944567	C	G	118944567	3	3	292	1	0	0	0	0	1	0	0	0	17284	912	32	2	1169	2	VPS11	11	118944567	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	172257	118944567	16061949	348	52002											
ST3GAL4	6484	broad.mit.edu	37	chr11	126283417	126283417	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaagcccaccacgggcctGttggccatcacgctggccct	7	6	11	17	2	1	1	1	0	0	1	1	1	1	1	5	3	1	2	5	3	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:126283417G>C	ENST00000526727.1	+	9	1163	c.789G>C	c.(787-789)ctG>ctC	p.L263L	ST3GAL4_ENST00000534083.1_Silent_p.L263L|ST3GAL4_ENST00000532243.1_Silent_p.L262L|ST3GAL4_ENST00000530591.1_Silent_p.L259L|ST3GAL4_ENST00000449406.2_Silent_p.L252L|ST3GAL4_ENST00000534457.1_Silent_p.L258L|ST3GAL4_ENST00000444328.2_Silent_p.L263L|ST3GAL4_ENST00000392669.2_Silent_p.L263L|ST3GAL4_ENST00000356132.4_Silent_p.L269L|ST3GAL4_ENST00000227495.6_Silent_p.L259L			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	263					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CCACGGGCCTGTTGGCCATCA	0.592													13	27					0	0	0	0	C	126283417	G	C	126283417	2	2	292	1	0	0	0	0	0	0	0	1	15307	1364	48	4		4	ST3GAL4	11	126283417	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	7338850	126283417	8723099	349	52003											
NFRKB	4798	broad.mit.edu	37	chr11	129758530	129758530	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcagagggtttccaaagCggaagttctccccactgaac	10	9	11	11	1	1	2	0	1	1	1	3	3	2	3	3	2	3	3	3	2	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:129758530C>A	ENST00000446488.3	-	3	399	c.296G>T	c.(295-297)cGc>cTc	p.R99L	NFRKB_ENST00000304521.5_Missense_Mutation_p.R99L|NFRKB_ENST00000524746.1_Missense_Mutation_p.R99L|NFRKB_ENST00000524794.1_Missense_Mutation_p.R112L|NFRKB_ENST00000526940.1_Missense_Mutation_p.R99L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	99					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTTCCAAAGCGGAAGTTCTC	0.502													19	43					2.27731e-05	3.52331e-05	1	0	A	129758530	C	A	129758530	3	1	292	1	0	0	0	0	1	0	0	0	10454	768	27	3	3735	3	NFRKB	11	129758530	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3475113	129758530	5247986	350	52004											
GALNT8	26290	broad.mit.edu	37	chr12	4835951	4835951	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacaacgcgtacctcagcaaCcagctgcctctcaatcgcac	11	7	6	17	3	2	0	2	0	1	0	4	0	2	0	3	0	7	4	3	0	5	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:4835951C>T	ENST00000252318.2	+	2	802	c.465C>T	c.(463-465)aaC>aaT	p.N155N	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	155						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACCTCAGCAACCAGCTGCCTC	0.567													37	76					0	0	0	0	T	4835951	C	T	4835951	2	4	292	1	0	0	0	0	0	0	0	1	6268	506	18	4		4	GALNT8	12	4835951	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08		4835951	129015944	351	52005											
KCNA1	3736	broad.mit.edu	37	chr12	5021762	5021762	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgccctgcccgtacctgtCattgtgtccaatttcaacta	8	14	6	13	1	2	0	2	0	0	0	3	0	3	0	4	0	4	1	4	0	4	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:5021762C>T	ENST00000382545.3	+	2	2325	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	406					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCGTACCTGTCATTGTGTCCA	0.517													170	304					0	0	0	0	T	5021762	C	T	5021762	2	4	292	1	0	0	0	0	0	0	0	1	8054	813	29	2		2	KCNA1	12	5021762	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	185811	5021762	128830133	352	52006											
CD163	9332	broad.mit.edu	37	chr12	7636247	7636247	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacgtccagaacaggaagtgGgtccttcctgaagtcttatc	10	10	10	11	1	1	2	0	1	1	1	5	3	4	3	3	2	1	0	3	2	4	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:7636247G>C	ENST00000359156.4	-	12	3006	c.2804C>G	c.(2803-2805)cCc>cGc	p.P935R	CD163_ENST00000396620.3_Missense_Mutation_p.P968R|CD163_ENST00000541972.1_Missense_Mutation_p.P923R|CD163_ENST00000432237.2_Missense_Mutation_p.P935R|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	935	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACAGGAAGTGGGTCCTTCCTG	0.468													23	55					0	0	0	0	C	7636247	G	C	7636247	3	2	292	1	0	0	0	0	1	0	0	0	2996	1232	43	4	686	4	CD163	12	7636247	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2614485	7636247	126215648	353	52007											
A2M	2	broad.mit.edu	37	chr12	9230012	9230012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtcacttcatcttctactCctccctgtgaatacgagaga	9	12	8	12	1	4	2	2	1	2	1	6	4	6	2	2	1	2	0	2	1	3	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:9230012C>A	ENST00000318602.7	-	27	3588	c.3281G>T	c.(3280-3282)gGa>gTa	p.G1094V		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1094					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ATCTTCTACTCCTCCCTGTGA	0.453													7	24					7.48243e-07	1.21392e-06	1	0	A	9230012	C	A	9230012	3	1	292	1	0	0	0	0	1	0	0	0	4	855	30	2	1183	2	A2M	12	9230012	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1593765	9230012	124621883	354	52008											
CLEC1B	51266	broad.mit.edu	37	chr12	10147807	10147807	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttctggcgagataatccGacccaacgaattaaatgagt	14	9	9	9	3	1	2	0	1	1	1	2	6	2	2	2	1	1	0	2	1	5	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:10147807G>T	ENST00000428126.2	-	6	647	c.378C>A	c.(376-378)gtC>gtA	p.V126V	CLEC1B_ENST00000298527.6_Silent_p.V159V|CLEC1B_ENST00000348658.4_Silent_p.V126V			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	159	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						GAGATAATCCGACCCAACGAA	0.433													73	406					1.75807e-36	3.67396e-36	1	0	T	10147807	G	T	10147807	2	4	292	1	0	0	0	0	0	0	0	1	3536	1045	37	3		3	CLEC1B	12	10147807	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	917795	10147807	123704088	355	52009											
PDE3A	5139	broad.mit.edu	37	chr12	20769241	20769241	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccacctcggccacaggTctacccaccttggagcctgc	8	6	8	19	1	1	0	0	0	1	0	2	1	1	1	7	3	3	0	7	3	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:20769241T>C	ENST00000359062.3	+	4	1387	c.1347T>C	c.(1345-1347)ggT>ggC	p.G449G	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	449					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CGGCCACAGGTCTACCCACCT	0.562													35	82					0	0	0	0	C	20769241	T	C	20769241	2	2	292	1	0	0	0	0	0	0	0	1	11708	1654	58	5		5	PDE3A	12	20769241	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	10621434	20769241	113082654	356	52010											
SLCO1C1	53919	broad.mit.edu	37	chr12	20874784	20874784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccagtgggtaggagcctgGtggcttggctatctaatagc	7	10	14	10	0	1	0	0	0	1	0	1	1	1	1	3	5	2	3	3	5	4	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:20874784G>T	ENST00000381552.1	+	8	1190	c.822G>T	c.(820-822)tgG>tgT	p.W274C	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.W225C|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.W274C|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.W156C|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.W274C			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	274					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TAGGAGCCTGGTGGCTTGGCT	0.423													18	32					2.4624e-09	4.22065e-09	1	0	T	20874784	G	T	20874784	3	4	292	1	0	0	0	0	1	0	0	0	14813	1270	44	4	848	4	SLCO1C1	12	20874784	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	105543	20874784	112977111	357	52011											
OVCH1	341350	broad.mit.edu	37	chr12	29630038	29630038	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcctcagttgcctaccttTataatgtgcttctctggagc	7	16	7	11	0	2	0	1	0	1	0	4	1	3	1	3	1	4	2	3	1	3	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:29630038T>C	ENST00000318184.5	-	12	1373	c.1374A>G	c.(1372-1374)atA>atG	p.I458M	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	458	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGCCTACCTTTATAATGTGCT	0.393													8	20					0	0	0	0	C	29630038	T	C	29630038	3	2	292	1	0	0	0	0	1	0	0	0	11394	1744	61	5	2098	5	OVCH1	12	29630038	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	8755254	29630038	104221857	358	52012											
KIF21A	55605	broad.mit.edu	37	chr12	39716684	39716684	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggtggttctccttcgggCctagtcaaagaatggaagga	10	10	14	7	1	2	1	1	0	1	1	4	3	2	3	2	5	0	1	2	5	4	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:39716684C>A	ENST00000395670.3	-	26	3876	c.3456_splice	c.e26-1	p.A1153_splice	KIF21A_ENST00000541463.2_Splice_Site_p.A1117_splice|KIF21A_ENST00000361418.5_Splice_Site_p.A1153_splice|KIF21A_ENST00000544797.2_Splice_Site_p.A1133_splice|KIF21A_ENST00000361961.3_Splice_Site_p.A1140_splice			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1153					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCCTTCGGGCCTAGTCAAAG	0.433													23	73					3.62473e-10	6.31019e-10	1	0	A	39716684	C	A	39716684	5	1	292	1	0	0	0	0	0	0	1	0	8339	753	26	4	1615	4	KIF21A	12	39716684	Splice_Site	SNP	C	TCGA-CV-7245-01A-11D-2012-08	10086646	39716684	94135211	359	52013											
KIF21A	55605	broad.mit.edu	37	chr12	39724658	39724658	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactggttatttctgtttgtTtgagtcgaccttccagtact	6	18	8	9	1	1	1	0	1	1	0	3	2	2	1	2	1	1	4	2	1	2	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:39724658T>G	ENST00000395670.3	-	23	3628	c.3209A>C	c.(3208-3210)aAa>aCa	p.K1070T	KIF21A_ENST00000541463.2_Missense_Mutation_p.K1034T|KIF21A_ENST00000361418.5_Missense_Mutation_p.K1070T|KIF21A_ENST00000544797.2_Missense_Mutation_p.K1057T|KIF21A_ENST00000361961.3_Missense_Mutation_p.K1057T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1070					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTGTTTGTTTGAGTCGACC	0.403													14	55					0	0	0	0	G	39724658	T	G	39724658	3	3	292	1	0	0	0	0	1	0	0	0	8339	1841	64	5	1879	5	KIF21A	12	39724658	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	7974	39724658	94127237	360	52014											
CNTN1	1272	broad.mit.edu	37	chr12	41418967	41418967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagattcggtattgggctGcccatgacaaagaagaagct	12	9	12	8	1	0	4	0	1	0	3	1	4	0	4	1	2	3	4	1	2	4	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:41418967G>A	ENST00000551295.2	+	21	2656	c.2539G>A	c.(2539-2541)Gcc>Acc	p.A847T	CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000348761.2_Missense_Mutation_p.A836T|CNTN1_ENST00000347616.1_Missense_Mutation_p.A847T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	847	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTATTGGGCTGCCCATGACAA	0.433													37	174					0	0	0	0	A	41418967	G	A	41418967	3	1	292	1	0	0	0	0	1	0	0	0	3670	1319	46	4	2617	4	CNTN1	12	41418967	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1694309	41418967	92432928	361	52015											
ACVRL1	94	broad.mit.edu	37	chr12	52312877	52312877	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagacccccaccatccCtaaccggctggctgcagacc	9	5	8	19	1	1	2	1	0	0	2	2	2	2	2	6	2	3	4	6	2	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:52312877C>A	ENST00000550683.1	+	8	1498	c.1397C>A	c.(1396-1398)cCt>cAt	p.P466H	ACVRL1_ENST00000419526.2_Missense_Mutation_p.P278H|ACVRL1_ENST00000388922.4_Missense_Mutation_p.P452H	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	452	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCCACCATCCCTAACCGGCTG	0.587													19	62					1.56452e-12	2.85783e-12	1	0	A	52312877	C	A	52312877	3	1	292	1	0	0	0	0	1	0	0	0	225	681	24	4	1385	4	ACVRL1	12	52312877	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	10893910	52312877	81539018	362	52016											
KRT85	3891	broad.mit.edu	37	chr12	52756641	52756641	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctccacagaccccacctgGcacttggcattctcaatctc	8	10	5	18	0	2	1	1	0	2	1	6	1	4	1	5	2	0	2	5	2	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:52756641G>T	ENST00000257901.3	-	6	1149	c.1074C>A	c.(1072-1074)tgC>tgA	p.C358*	KRT85_ENST00000544265.1_Nonsense_Mutation_p.C146*	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	358	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity	p.C358*(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCCCACCTGGCACTTGGCAT	0.597													57	97					3.89483e-19	7.73556e-19	1	0	T	52756641	G	T	52756641	4	4	292	1	0	0	0	0	0	1	0	0	8551	1195	42	4	465	4	KRT85	12	52756641	Nonsense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	443764	52756641	81095254	363	52017											
OR10A7	121364	broad.mit.edu	37	chr12	55614811	55614811	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaaactcatctaagatatGatctgtgaaaatcacaccag	17	9	7	8	0	4	4	2	2	2	2	4	5	4	4	1	0	1	0	1	0	5	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:55614811G>C	ENST00000326258.1	+	1	3	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCTAAGATATGATCTGTGAAA	0.313													24	108					0	0	0	0	C	55614811	G	C	55614811	1	2	292	1	0	0	0	0	0	0	0	0	10966	1290	45	2		2	OR10A7	12	55614811	Translation_Start_Site	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2858170	55614811	78237084	364	52018											
BLOC1S1	2647	broad.mit.edu	37	chr12	56113343	56113343	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacatgcgcaccattgccActgcactggaatatgtctac	10	10	9	12	1	1	0	0	0	1	0	1	2	1	2	2	2	4	2	2	2	3	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:56113343A>T	ENST00000547076.1	+	4	693	c.178A>T	c.(178-180)Act>Tct	p.T60S	RP11-644F5.10_ENST00000549424.1_Intron|BLOC1S1_ENST00000257899.2_Missense_Mutation_p.T110S|BLOC1S1_ENST00000548925.1_Missense_Mutation_p.T138S|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.T60S|BLOC1S1_ENST00000549147.1_3'UTR|RP11-644F5.10_ENST00000550412.1_Intron			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	138					cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						CACCATTGCCACTGCACTGGA	0.602													29	58					0	0	0	0	T	56113343	A	T	56113343	3	4	292	1	0	0	0	0	1	0	0	0	1453	159	6	5	342	5	BLOC1S1	12	56113343	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	498532	56113343	77738552	365	52019											
LRP1	4035	broad.mit.edu	37	chr12	57578167	57578167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcggtctcggctagatGgcacggagcgtgtggtgctg	5	10	18	8	4	1	2	0	1	1	1	2	3	1	3	0	5	3	3	0	5	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:57578167G>A	ENST00000243077.3	+	38	6584	c.6118G>A	c.(6118-6120)Ggc>Agc	p.G2040S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2040					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCGGCTAGATGGCACGGAGCG	0.597													27	49					0	0	0	0	A	57578167	G	A	57578167	3	1	292	1	0	0	0	0	1	0	0	0	9015	1348	47	4	6268	4	LRP1	12	57578167	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1464824	57578167	76273728	366	52020											
KIF5A	3798	broad.mit.edu	37	chr12	57969038	57969038	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggagctctcatcctgcCagctcctcatctctcaggtg	5	10	11	15	1	4	0	3	0	2	0	8	1	6	1	3	3	3	2	3	3	0	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:57969038C>G	ENST00000455537.2	+	16	2162	c.1888C>G	c.(1888-1890)Cag>Gag	p.Q630E	KIF5A_ENST00000286452.5_Missense_Mutation_p.Q541E	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	630					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTCATCCTGCCAGCTCCTCAT	0.552													3	20					0	0	0	0	G	57969038	C	G	57969038	3	3	292	1	0	0	0	0	1	0	0	0	8356	595	21	4	1950	4	KIF5A	12	57969038	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	390871	57969038	75882857	367	52021											
FAM19A2	338811	broad.mit.edu	37	chr12	62147483	62147483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacattcttctccctctaGacatggctgcatatggcacc	8	14	6	13	0	3	1	0	0	3	1	4	1	3	1	2	2	2	3	2	2	3	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:62147483G>T	ENST00000416284.3	-	4	1888	c.304C>A	c.(304-306)Cta>Ata	p.L102I	FAM19A2_ENST00000551619.1_Missense_Mutation_p.L102I|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_Missense_Mutation_p.L5I	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	102						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TCTCCCTCTAGACATGGCTGC	0.403													37	79					6.03168e-27	1.23471e-26	1	0	T	62147483	G	T	62147483	3	4	292	1	0	0	0	0	1	0	0	0	5575	933	33	2	99	2	FAM19A2	12	62147483	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	4178445	62147483	71704412	368	52022											
C12orf66	144577	broad.mit.edu	37	chr12	64587735	64587735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctcagatttctttgactCaaaaatgatgacaatggtaa	14	14	6	7	0	4	4	2	3	2	1	5	4	4	4	0	1	0	1	0	1	4	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:64587735C>T	ENST00000311915.8	-	3	1252	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	C12orf66_ENST00000544871.1_Missense_Mutation_p.E356K|C12orf66_ENST00000398055.3_Missense_Mutation_p.E409K			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	409										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TTCTTTGACTCAAAAATGATG	0.443													55	112					0	0	0	0	T	64587735	C	T	64587735	3	4	292	1	0	0	0	0	1	0	0	0	1721	835	29	2	116	2	C12orf66	12	64587735	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2440252	64587735	69264160	369	52023											
IFNG	3458	broad.mit.edu	37	chr12	68551716	68551716	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataattagtcagcttttcgaAgtcatctcgtttctttttgt	8	20	6	7	2	4	0	2	0	2	0	6	1	4	0	0	0	1	2	0	0	3	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:68551716A>T	ENST00000229135.3	-	3	474	c.343T>A	c.(343-345)Ttc>Atc	p.F115I	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	115					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	AGCTTTTCGAAGTCATCTCGT	0.368													24	94					0	0	0	0	T	68551716	A	T	68551716	3	4	292	1	0	0	0	0	1	0	0	0	7601	72	3	5	165	5	IFNG	12	68551716	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	3963981	68551716	65300179	370	52024											
IL26	55801	broad.mit.edu	37	chr12	68595635	68595635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctttggtttactgactgCtttccaataattttttaatc	8	20	6	7	0	0	1	0	1	0	0	2	1	1	1	1	2	2	3	1	2	4	8			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:68595635C>T	ENST00000229134.4	-	5	570	c.506G>A	c.(505-507)aGc>aAc	p.S169N	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	169					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTACTGACTGCTTTCCAATAA	0.294													19	30					0	0	0	0	T	68595635	C	T	68595635	3	4	292	1	0	0	0	0	1	0	0	0	7732	797	28	4	13	4	IL26	12	68595635	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	43919	68595635	65256260	371	52025											
TPH2	121278	broad.mit.edu	37	chr12	72425354	72425354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatacttcaatccctacaCacagagtattgaaattctga	15	12	5	9	0	2	3	1	2	1	1	3	3	3	3	1	0	2	2	1	0	6	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:72425354C>T	ENST00000333850.3	+	11	1493	c.1352C>T	c.(1351-1353)aCa>aTa	p.T451I		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	451					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AATCCCTACACACAGAGTATT	0.408													15	72					0	0	0	0	T	72425354	C	T	72425354	3	4	292	1	0	0	0	0	1	0	0	0	16497	478	17	4	1394	4	TPH2	12	72425354	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3829719	72425354	61426541	372	52026											
TRHDE	29953	broad.mit.edu	37	chr12	72771839	72771839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggactatgctctccatataaCaaagagattaatagaatttt	16	13	6	6	0	1	2	0	0	1	2	2	4	1	3	1	1	2	1	1	1	7	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:72771839C>G	ENST00000261180.4	+	3	1214	c.1118C>G	c.(1117-1119)aCa>aGa	p.T373R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	373					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTCCATATAACAAAGAGATTA	0.333													21	88					0	0	0	0	G	72771839	C	G	72771839	3	3	292	1	0	0	0	0	1	0	0	0	16574	478	17	4	1128	4	TRHDE	12	72771839	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	346485	72771839	61080056	373	52027											
TMTC2	160335	broad.mit.edu	37	chr12	83251085	83251085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgatgtttgcttctcaccCcattcacacggaggcagtgg	7	12	10	12	1	2	1	2	1	1	0	3	2	2	2	2	3	1	3	2	3	0	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:83251085C>G	ENST00000549919.1	+	3	2167	c.362C>G	c.(361-363)cCc>cGc	p.P121R	TMTC2_ENST00000548305.1_Missense_Mutation_p.P127R|TMTC2_ENST00000321196.3_Missense_Mutation_p.P127R			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	127						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GCTTCTCACCCCATTCACACG	0.517													18	69					0	0	0	0	G	83251085	C	G	83251085	3	3	292	1	0	0	0	0	1	0	0	0	16355	623	22	4	386	4	TMTC2	12	83251085	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	10479246	83251085	50600810	374	52028											
CEP290	80184	broad.mit.edu	37	chr12	88478552	88478552	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggcaggcaatcgaagcctCagttcattgattactttgtc	9	13	10	9	1	2	1	2	1	0	0	4	2	2	1	1	2	2	3	1	2	3	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:88478552C>G	ENST00000552810.1	-	35	4858	c.4515G>C	c.(4513-4515)ctG>ctC	p.L1505L	CEP290_ENST00000397838.3_Silent_p.L565L|CEP290_ENST00000309041.7_Silent_p.L1507L|CEP290_ENST00000547691.2_Silent_p.L565L	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1505					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATCGAAGCCTCAGTTCATTGA	0.363													20	56					0	0	0	0	G	88478552	C	G	88478552	2	3	292	1	0	0	0	0	0	0	0	1	3282	813	29	2		2	CEP290	12	88478552	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	5227467	88478552	45373343	375	52029											
C12orf74	338809	broad.mit.edu	37	chr12	93101490	93101490	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgctatgacatctgttGactatttactattagatttt	9	18	7	7	1	1	3	0	2	1	1	1	3	1	3	1	1	2	2	1	1	5	9			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:93101490G>T	ENST00000397833.3	+	3	1023	c.572G>T	c.(571-573)tGa>tTa	p.*191L	C12orf74_ENST00000544406.2_3'UTR	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	0										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GACATCTGTTGACTATTTACT	0.363													6	32					0.00198382	0.00293324	1	0	T	93101490	G	T	93101490	4	4	292	1	0	0	0	0	0	0	0	0	1726	1285	45	2	593	2	C12orf74	12	93101490	Nonstop_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	4622938	93101490	40750405	376	52030											
ELK3	2004	broad.mit.edu	37	chr12	96641260	96641260	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtccctgtcccccaactcAcccctcccttctgaacacag	7	8	4	22	1	2	1	1	1	1	0	5	1	5	1	7	0	2	0	7	0	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:96641260A>C	ENST00000228741.3	+	3	1076	c.750A>C	c.(748-750)tcA>tcC	p.S250S	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	250					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCCCCAACTCACCCCTCCCTT	0.582													6	136					0	0	0	0	C	96641260	A	C	96641260	2	2	292	1	0	0	0	0	0	0	0	1	5098	146	6	5		5	ELK3	12	96641260	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	3539770	96641260	37210635	377	52031											
SSH1	54434	broad.mit.edu	37	chr12	109182593	109182593	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgggtgacgattcttccTttattaccacttctgtgctg	5	18	8	10	1	3	1	0	1	3	0	4	2	4	1	2	1	2	1	2	1	2	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:109182593T>C	ENST00000326495.5	-	15	2414	c.2321A>G	c.(2320-2322)aAg>aGg	p.K774R	SSH1_ENST00000360239.3_Missense_Mutation_p.K462R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	774					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGATTCTTCCTTTATTACCAC	0.468													65	89					0	0	0	0	C	109182593	T	C	109182593	3	2	292	1	0	0	0	0	1	0	0	0	15274	1609	56	5	832	5	SSH1	12	109182593	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	12541333	109182593	24669302	378	52032											
TRPV4	59341	broad.mit.edu	37	chr12	110230484	110230484	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgatgctataggtcccCgtcagcttcagcccacgggt	8	10	10	13	2	3	1	3	1	0	0	4	1	4	1	3	2	3	2	3	2	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:110230484C>A	ENST00000418703.2	-	10	1891	c.1797G>T	c.(1795-1797)acG>acT	p.T599T	TRPV4_ENST00000392719.2_Silent_p.T552T|TRPV4_ENST00000261740.2_Silent_p.T599T|TRPV4_ENST00000537083.1_Silent_p.T539T|TRPV4_ENST00000541794.1_Silent_p.T552T|TRPV4_ENST00000346520.2_Silent_p.T539T|TRPV4_ENST00000544971.1_Silent_p.T492T|TRPV4_ENST00000536838.1_Silent_p.T565T	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	599					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.T599T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TATAGGTCCCCGTCAGCTTCA	0.577													22	41					1.87028e-06	2.96227e-06	1	0	A	110230484	C	A	110230484	2	1	292	1	0	0	0	0	0	0	0	1	16693	639	23	3		3	TRPV4	12	110230484	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1047891	110230484	23621411	379	52033											
HVCN1	84329	broad.mit.edu	37	chr12	111089187	111089187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaactccaggcggaagaCaaataatttaaagatgatct	19	8	8	6	1	1	4	0	1	1	3	2	5	2	5	1	2	1	0	1	2	7	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:111089187C>G	ENST00000356742.5	-	5	1231	c.478G>C	c.(478-480)Gtc>Ctc	p.V160L	HVCN1_ENST00000439744.2_Missense_Mutation_p.V140L|HVCN1_ENST00000242607.8_Missense_Mutation_p.V160L|HVCN1_ENST00000548312.1_Missense_Mutation_p.V160L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	160					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGGCGGAAGACAAATAATTTA	0.468													32	54					0	0	0	0	G	111089187	C	G	111089187	3	3	292	1	0	0	0	0	1	0	0	0	7515	478	17	4	355	4	HVCN1	12	111089187	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	858703	111089187	22762708	380	52034											
FBXO21	23014	broad.mit.edu	37	chr12	117628083	117628083	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagctcgcgcagccgcCggcaggtgctggagacacgg	7	3	17	14	5	0	1	0	0	0	1	1	2	0	1	2	5	3	5	2	5	0	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:117628083C>A	ENST00000427718.2	-	1	253	c.179G>T	c.(178-180)cGg>cTg	p.R60L	FBXO21_ENST00000330622.5_Missense_Mutation_p.R60L	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	60	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GCGCAGCCGCCGGCAGGTGCT	0.721													5	12					5.9392e-07	9.19302e-07	1	0	A	117628083	C	A	117628083	3	1	292	1	0	0	0	0	1	0	0	0	5778	652	23	3	1755	3	FBXO21	12	117628083	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	6538896	117628083	16223812	381	52035											
NOS1	4842	broad.mit.edu	37	chr12	117662875	117662875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttcggaaaggggcaaTgccggtgcctggtccaacga	10	6	15	10	3	0	0	0	0	0	0	2	3	1	1	3	5	4	2	3	5	4	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:117662875T>C	ENST00000317775.6	-	25	4457	c.3772A>G	c.(3772-3774)Att>Gtt	p.I1258V	NOS1_ENST00000338101.4_Missense_Mutation_p.I1292V|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1258					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AAAGGGGCAATGCCGGTGCCT	0.602													86	133					0	0	0	0	C	117662875	T	C	117662875	3	2	292	1	0	0	0	0	1	0	0	0	10611	1464	51	5	552	5	NOS1	12	117662875	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	34792	117662875	16189020	382	52036											
CLIP1	6249	broad.mit.edu	37	chr12	122825885	122825885	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctccagtttggacttccaTagagctatcacatctgagtt	9	14	8	10	0	3	2	1	1	2	1	5	3	4	3	2	1	1	3	2	1	2	5	rs150031777		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:122825885T>A	ENST00000358808.2	-	10	1987	c.1833A>T	c.(1831-1833)ctA>ctT	p.L611L	CLIP1_ENST00000540338.1_Silent_p.L622L|CLIP1_ENST00000537178.1_Silent_p.L576L|CLIP1_ENST00000361654.4_Silent_p.L576L|CLIP1_ENST00000545889.1_Silent_p.L312L|CLIP1_ENST00000302528.7_Silent_p.L611L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	622					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGGACTTCCATAGAGCTATCA	0.488													76	105					0	0	0	0	A	122825885	T	A	122825885	2	1	292	1	0	0	0	0	0	0	0	1	3562	1393	49	5		5	CLIP1	12	122825885	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	5163010	122825885	11026010	383	52037											
TMEM132B	114795	broad.mit.edu	37	chr12	126004094	126004094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtggagtacccgattgagGactccatgagtgagctggtc	9	9	15	8	1	0	3	0	3	0	0	2	6	1	5	2	4	2	2	2	4	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:126004094G>T	ENST00000299308.3	+	4	1209	c.1201G>T	c.(1201-1203)Gac>Tac	p.D401Y		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	401						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCGATTGAGGACTCCATGAG	0.532													15	98					2.31682e-05	3.5734e-05	1	0	T	126004094	G	T	126004094	3	4	292	1	0	0	0	0	1	0	0	0	16140	1174	41	2	1215	2	TMEM132B	12	126004094	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3178209	126004094	7847801	384	52038											
EP400	57634	broad.mit.edu	37	chr12	132491392	132491392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaacagtgcagatcattGctttttttgcccacctagct	10	14	7	10	0	1	1	1	0	0	1	1	1	1	1	2	0	5	4	2	0	3	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:132491392G>A	ENST00000333577.4	+	16	3491	c.3382G>A	c.(3382-3384)Gct>Act	p.A1128T	EP400_ENST00000330386.6_Missense_Mutation_p.A1092T|EP400_ENST00000389561.2_Missense_Mutation_p.A1092T|EP400_ENST00000332482.4_Missense_Mutation_p.A1055T|EP400_ENST00000389562.2_Missense_Mutation_p.A1091T			Q96L91	EP400_HUMAN	E1A binding protein p400	1128	Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCAGATCATTGCTTTTTTTGC	0.428													24	36					0	0	0	0	A	132491392	G	A	132491392	3	1	292	1	0	0	0	0	1	0	0	0	5187	1319	46	4	3325	4	EP400	12	132491392	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	6487298	132491392	1360503	385	52039											
CENPJ	55835	broad.mit.edu	37	chr13	25479525	25479525	+	Frame_Shift_Del	DEL	C	C	-																															tgtttaacttgagttcatttCccaagtgtgaatctgacttt																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:25479525delC	ENST00000381884.4	-	7	2836	c.2651delG	c.(2650-2652)gafs	p.G884fs	CENPJ_ENST00000545981.1_Frame_Shift_Del_p.G884fs	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	884					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GAGTTCATTTCCCAAGTGTGA	0.373													18	48	---	---	---	---					-	25479525	C	-	25479525	7	5	292	1	0	1	0	1	0	0	0	0	3263	855	30	0	1409	0	CENPJ	13	25479525	Frame_Shift_Del	DEL	C	TCGA-CV-7245-01A-11D-2012-08		25479525	89690353	386	52040											
ELF1	1997	broad.mit.edu	37	chr13	41515109	41515109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcctgcatggtactggttcTagctgcttctccctctggga	5	14	10	12	0	3	0	0	0	3	0	5	1	4	1	2	3	4	5	2	3	2	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:41515109T>C	ENST00000239882.3	-	8	1518	c.1204A>G	c.(1204-1206)Aga>Gga	p.R402G	ELF1_ENST00000442101.1_Missense_Mutation_p.R378G|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	402					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GTACTGGTTCTAGCTGCTTCT	0.468													60	24					0	0	0	0	C	41515109	T	C	41515109	3	2	292	1	0	0	0	0	1	0	0	0	5091	1530	53	5	663	5	ELF1	13	41515109	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	16035584	41515109	73654769	387	52041											
GTF2F2	2963	broad.mit.edu	37	chr13	45725938	45725938	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgttggaggacagacAttaacagtatttactgagag	15	10	11	5	0	0	2	0	1	0	2	0	5	0	4	0	2	2	2	0	2	4	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:45725938A>G	ENST00000340473.6	+	4	417	c.276A>G	c.(274-276)acA>acG	p.T92T		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	92					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		GAGGACAGACATTAACAGTAT	0.373													58	20					0	0	0	0	G	45725938	A	G	45725938	2	3	292	1	0	0	0	0	0	0	0	1	6909	204	8	5		5	GTF2F2	13	45725938	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	4210829	45725938	69443940	388	52042											
PCDH20	64881	broad.mit.edu	37	chr13	61987508	61987508	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgataggtctgtaccccatTaatgcctacatctgggtcca	9	11	9	12	1	2	0	0	0	2	0	3	1	3	0	4	2	3	1	4	2	4	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:61987508T>C	ENST00000409186.1	-	5	2829	c.724A>G	c.(724-726)Aat>Gat	p.N242D	PCDH20_ENST00000409204.4_Missense_Mutation_p.N242D			Q8N6Y1	PCD20_HUMAN	protocadherin 20	215	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTACCCCATTAATGCCTACA	0.532													50	45					0	0	0	0	C	61987508	T	C	61987508	3	2	292	1	0	0	0	0	1	0	0	0	11586	1754	61	5	2135	5	PCDH20	13	61987508	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	16261570	61987508	53182370	389	52043											
TM9SF2	9375	broad.mit.edu	37	chr13	100193874	100193874	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtagctatgattatgttaCggacactgcacaaagatatt	13	13	9	6	1	0	2	0	1	0	1	0	3	0	3	0	2	3	4	0	2	6	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:100193874C>A	ENST00000376387.4	+	9	1160	c.970C>A	c.(970-972)Cgg>Agg	p.R324R		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	324					transport	endosome membrane|integral to plasma membrane		p.R324G(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GATTATGTTACGGACACTGCA	0.358													24	45					1.1804e-14	2.22519e-14	1	0	A	100193874	C	A	100193874	2	1	292	1	0	0	0	0	0	0	0	1	16072	527	19	3		3	TM9SF2	13	100193874	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	38206366	100193874	14976004	390	52044											
OR4L1	122742	broad.mit.edu	37	chr14	20528889	20528889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcagtgtaccaaaaaaatCatcacatgggctctccaagg	14	8	9	10	0	4	0	3	0	1	0	5	0	4	0	2	3	1	2	2	3	5	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:20528889C>T	ENST00000315683.1	+	1	686	c.686C>T	c.(685-687)tCa>tTa	p.S229L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCAAAAAAATCATCACATGGG	0.438													77	78					0	0	0	0	T	20528889	C	T	20528889	3	4	292	1	0	0	0	0	1	0	0	0	11145	838	29	2	688	2	OR4L1	14	20528889	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08		20528889	86820651	391	52045											
TEP1	7011	broad.mit.edu	37	chr14	20871907	20871907	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggggtggccggcgggggTgtctcttggcccggtgcttc	1	9	20	11	4	1	0	0	0	1	0	3	0	1	0	2	8	2	1	2	8	0	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:20871907T>A	ENST00000262715.5	-	6	1209	c.1169A>T	c.(1168-1170)cAc>cTc	p.H390L	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	390	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.H390P(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCGGCGGGGGTGTCTCTTGGC	0.627													37	79					0	0	0	0	A	20871907	T	A	20871907	3	1	292	1	0	0	0	0	1	0	0	0	15853	1696	59	5	6914	5	TEP1	14	20871907	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	343018	20871907	86477633	392	52046											
RNASE4	6038	broad.mit.edu	37	chr14	21167532	21167532	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcacctctaagatactgaTggctctgcagaggacccatt	11	9	10	11	0	2	3	0	1	2	2	2	4	2	4	2	3	2	3	2	3	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:21167532T>A	ENST00000555835.1	+	2	678	c.2T>A	c.(1-3)aTg>aAg	p.M1K	AL163636.6_ENST00000553909.1_RNA|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000304704.4_Start_Codon_SNP_p.M1K|RNASE4_ENST00000555597.1_Start_Codon_SNP_p.M1K|RNASE4_ENST00000397995.2_Start_Codon_SNP_p.M1K	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	1					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		AAGATACTGATGGCTCTGCAG	0.532													32	100					0	0	0	0	A	21167532	T	A	21167532	1	1	292	1	0	0	0	0	0	0	0	0	13491	1464	51	5		5	RNASE4	14	21167532	Translation_Start_Site	SNP	T	TCGA-CV-7245-01A-11D-2012-08	295625	21167532	86182008	393	52047											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-																															cagtgttgcaggcagcagcaGctgctgctgctgctgcttct																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)del	p.A434del	TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581													7	294	---	---	---	---					-	21961062	GCT	-	21961060	7	5	292	1	0	1	0	1	0	0	0	0	16475	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-CV-7245-01A-11D-2012-08	793528	21961060	85388480	394	52048											
PSMB11	122706	broad.mit.edu	37	chr14	23512042	23512042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcacccaggaagcctacgCcctggctcgctgcgccgtgg	6	5	14	16	4	0	0	0	0	0	0	1	2	0	1	4	3	4	3	4	3	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:23512042C>T	ENST00000408907.2	+	1	667	c.608C>T	c.(607-609)gCc>gTc	p.A203V		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	203					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GAAGCCTACGCCCTGGCTCGC	0.627													28	36					0	0	0	0	T	23512042	C	T	23512042	3	4	292	1	0	0	0	0	1	0	0	0	12755	739	26	4	610	4	PSMB11	14	23512042	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1550982	23512042	83837498	395	52049											
MYH6	4624	broad.mit.edu	37	chr14	23862578	23862578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgctccagcttgacCttagacttggacaggctgtt	7	12	10	12	0	0	2	0	1	0	1	1	3	1	3	3	2	3	5	3	2	1	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:23862578C>A	ENST00000405093.3	-	23	3148	c.3078G>T	c.(3076-3078)aaG>aaT	p.K1026N	MYH6_ENST00000356287.3_Missense_Mutation_p.K1026N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1026					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCAGCTTGACCTTAGACTTGG	0.517													36	145					2.20474e-14	4.14838e-14	1	0	A	23862578	C	A	23862578	3	1	292	1	0	0	0	0	1	0	0	0	10108	680	24	4	2809	4	MYH6	14	23862578	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	350536	23862578	83486962	396	52050											
DHRS2	10202	broad.mit.edu	37	chr14	24108190	24108190	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggctaaccgggtagcCgtggtcacggggtccaccag	6	7	15	13	3	1	0	1	0	0	0	3	0	3	0	5	5	2	2	5	5	2	2	rs146713514	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:24108190C>A	ENST00000250383.6	+	2	593	c.117C>A	c.(115-117)gcC>gcA	p.A39A	DHRS2_ENST00000344777.7_Silent_p.A39A|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	17					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ACCGGGTAGCCGTGGTCACGG	0.612													50	84					4.25531e-23	8.58784e-23	1	0	A	24108190	C	A	24108190	2	1	292	1	0	0	0	0	0	0	0	1	4527	639	23	3		3	DHRS2	14	24108190	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	245612	24108190	83241350	397	52051											
REC8	9985	broad.mit.edu	37	chr14	24641797	24641797	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtgcttcagcgccacacCggctgctttgccaccatctg	7	9	9	16	3	2	0	1	0	1	0	2	0	2	0	4	1	5	3	4	1	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:24641797C>T	ENST00000311457.3	+	2	635	c.36C>T	c.(34-36)acC>acT	p.T12T	REC8_ENST00000559919.1_Silent_p.T12T			O95072	REC8_HUMAN	REC8 meiotic recombination protein	12					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		AGCGCCACACCGGCTGCTTTG	0.612													8	44					0	0	0	0	T	24641797	C	T	24641797	2	4	292	1	0	0	0	0	0	0	0	1	13281	639	23	1		1	REC8	14	24641797	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	533607	24641797	82707743	398	52052											
RALGAPA1	253959	broad.mit.edu	37	chr14	36217975	36217975	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttctgtagttctgtctgttTtatcagcattatcatttttg	6	22	7	6	0	5	0	2	0	3	0	5	0	5	0	0	0	1	5	0	0	3	8			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:36217975T>C	ENST00000258840.6	-	10	1457	c.1067A>G	c.(1066-1068)aAa>aGa	p.K356R	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.K356R|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.K356R|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.K356R|RALGAPA1_ENST00000554704.1_5'UTR			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	356					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTGTCTGTTTTATCAGCATT	0.353													16	84					0	0	0	0	C	36217975	T	C	36217975	3	2	292	1	0	0	0	0	1	0	0	0	13095	1841	64	5	5320	5	RALGAPA1	14	36217975	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	11576178	36217975	71131565	399	52053											
MDGA2	161357	broad.mit.edu	37	chr14	47504488	47504488	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgatttttcctgtggAacagtcagattgggtggaac	10	13	13	5	0	1	2	1	1	0	1	2	4	2	4	1	4	2	0	1	4	3	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:47504488A>T	ENST00000426342.1	-	8	1397	c.651T>A	c.(649-651)gtT>gtA	p.V217V	MDGA2_ENST00000439988.2_Silent_p.V446V|MDGA2_ENST00000357362.3_Silent_p.V217V|MDGA2_ENST00000399232.2_Silent_p.V515V	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	446	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTCCTGTGGAACAGTCAGAT	0.373													41	56					0	0	0	0	T	47504488	A	T	47504488	2	4	292	1	0	0	0	0	0	0	0	1	9476	233	9	5		5	MDGA2	14	47504488	Silent	SNP	A	TCGA-CV-7245-01A-11D-2012-08	11286513	47504488	59845052	400	52054											
SOS2	6655	broad.mit.edu	37	chr14	50596694	50596694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttacttgaatgtggcaaaaGcactggagcaaagatgctat	14	10	10	7	0	0	2	0	1	0	1	0	3	0	3	0	2	4	4	0	2	6	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:50596694G>C	ENST00000216373.5	-	21	3638	c.3364C>G	c.(3364-3366)Ctt>Gtt	p.L1122V	SOS2_ENST00000543680.1_Missense_Mutation_p.L1089V	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1122					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGTGGCAAAAGCACTGGAGCA	0.274													6	33					0	0	0	0	C	50596694	G	C	50596694	3	2	292	1	0	0	0	0	1	0	0	0	15025	971	34	4	646	4	SOS2	14	50596694	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3092206	50596694	56752846	401	52055											
SLC35F4	341880	broad.mit.edu	37	chr14	58048102	58048102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagggagcagttcttttaaGaaagagtttcagcgtcagac	14	10	11	6	1	3	3	2	0	1	3	3	4	3	4	0	1	2	3	0	1	3	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:58048102G>A	ENST00000556826.1	-	4	873	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	SLC35F4_ENST00000554729.1_Missense_Mutation_p.L90F|SLC35F4_ENST00000339762.6_Missense_Mutation_p.L249F	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCTTTTAAGAAAGAGTTTC	0.413													6	30					0	0	0	0	A	58048102	G	A	58048102	3	1	292	1	0	0	0	0	1	0	0	0	14679	942	33	2	840	2	SLC35F4	14	58048102	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	7451408	58048102	49301438	402	52056											
C14orf39	317761	broad.mit.edu	37	chr14	60903645	60903645	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtattgaattttgacccTgtccaaatgaaaatggaaaa	17	11	8	5	0	0	3	0	3	0	0	1	4	1	4	2	2	0	1	2	2	8	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:60903645T>C	ENST00000321731.3	-	18	1841	c.1682A>G	c.(1681-1683)cAg>cGg	p.Q561R		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	561										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATTTTGACCCTGTCCAAATGA	0.323													65	195					0	0	0	0	C	60903645	T	C	60903645	3	2	292	1	0	0	0	0	1	0	0	0	1784	1580	55	5	85	5	C14orf39	14	60903645	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	2855543	60903645	46445895	403	52057											
TMED10	10972	broad.mit.edu	37	chr14	75614419	75614419	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtctaggatcacgagtTggtcaggtatccgccctgtt	7	13	11	10	2	4	0	3	0	1	0	5	2	5	1	2	3	0	3	2	3	2	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:75614419T>G	ENST00000303575.4	-	3	410	c.359A>C	c.(358-360)cAa>cCa	p.Q120P	TMED10_ENST00000557670.1_5'UTR	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	120	GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		GATCACGAGTTGGTCAGGTAT	0.493													55	218					0	0	0	0	G	75614419	T	G	75614419	3	3	292	1	0	0	0	0	1	0	0	0	16097	1812	63	5	312	5	TMED10	14	75614419	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	14710774	75614419	31735121	404	52058											
ANGEL1	23357	broad.mit.edu	37	chr14	77274328	77274328	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatagttccaattgaggatGtctggatggcaatgtagata	12	12	12	5	1	1	2	0	1	1	1	2	5	2	4	1	3	0	3	1	3	5	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:77274328G>A	ENST00000251089.2	-	3	925	c.813C>T	c.(811-813)gaC>gaT	p.D271D		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	271										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AATTGAGGATGTCTGGATGGC	0.498													6	54					0	0	0	0	A	77274328	G	A	77274328	2	1	292	1	0	0	0	0	0	0	0	1	608	1368	48	4		4	ANGEL1	14	77274328	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1659909	77274328	30075212	405	52059											
TTC8	123016	broad.mit.edu	37	chr14	89300041	89300041	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaatgctttccaggaacCagatcctgaattgccagtgc	10	12	8	11	0	1	2	0	1	1	1	3	3	3	3	4	1	4	1	4	1	3	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:89300041C>G	ENST00000380656.2	+	2	165	c.119C>G	c.(118-120)cCa>cGa	p.P40R	TTC8_ENST00000354441.6_Intron|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000338104.6_Intron|TTC8_ENST00000345383.5_Intron|TTC8_ENST00000346301.4_Intron	NM_144596.2	NP_653197.2	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	40			Missing (in RP51).		cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTCCAGGAACCAGATCCTGAA	0.348													10	49					0	0	0	0	G	89300041	C	G	89300041	3	3	292	1	0	0	0	0	1	0	0	0	16810	594	21	4	125	4	TTC8	14	89300041	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	12025713	89300041	18049499	406	52060											
SERPINA11	256394	broad.mit.edu	37	chr14	94914815	94914815	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgaatcccaggccctccagGatcagagctgaggtgttagc	9	9	12	11	0	1	3	1	2	0	1	3	4	3	4	3	3	2	2	3	3	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:94914815G>T	ENST00000334708.3	-	2	361	c.297C>A	c.(295-297)atC>atA	p.I99I	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	99					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGCCCTCCAGGATCAGAGCTG	0.622													24	142					2.89027e-11	5.12063e-11	1	0	T	94914815	G	T	94914815	2	4	292	1	0	0	0	0	0	0	0	1	14175	1164	41	2		2	SERPINA11	14	94914815	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	5614774	94914815	12434725	407	52061											
SERPINA9	327657	broad.mit.edu	37	chr14	94936102	94936102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggggtatgcactgggggCattggccggggacacacagt	7	6	19	9	2	0	0	0	0	0	0	0	1	0	1	1	7	1	3	1	7	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:94936102C>A	ENST00000337425.5	-	2	204	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S	SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.A44S|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000539349.1_5'UTR|SERPINA9_ENST00000380365.3_Missense_Mutation_p.A26S	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	26					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCACTGGGGGCATTGGCCGGG	0.532													15	91					4.7546e-09	8.08041e-09	1	0	A	94936102	C	A	94936102	3	1	292	1	0	0	0	0	1	0	0	0	14182	710	25	4	1193	4	SERPINA9	14	94936102	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	21287	94936102	12413438	408	52062											
CLMN	79789	broad.mit.edu	37	chr14	95670290	95670290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttcctcagcaacctcaaCtgccaagacatgtccatcct	10	11	4	16	0	2	1	2	0	0	1	5	1	5	1	5	0	4	1	5	0	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:95670290C>G	ENST00000298912.4	-	9	1509	c.1396G>C	c.(1396-1398)Gtt>Ctt	p.V466L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	466						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GCAACCTCAACTGCCAAGACA	0.488													13	74					0	0	0	0	G	95670290	C	G	95670290	3	3	292	1	0	0	0	0	1	0	0	0	3572	565	20	4	1632	4	CLMN	14	95670290	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	734188	95670290	11679250	409	52063											
BCL11B	64919	broad.mit.edu	37	chr14	99641175	99641175	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgcgcgggaagagcccGgggaagggctcggtgcctgg	5	5	21	10	4	0	1	0	0	0	1	1	3	0	3	2	7	3	2	2	7	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:99641175G>A	ENST00000345514.2	-	3	2051	c.1785C>T	c.(1783-1785)ccC>ccT	p.P595P	BCL11B_ENST00000357195.3_Silent_p.P666P|BCL11B_ENST00000443726.2_Silent_p.P472P	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	666	Gly-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGAAGAGCCCGGGGAAGGGCT	0.796			T	TLX3	T-ALL								3	11					0	0	0	0	A	99641175	G	A	99641175	2	1	292	1	0	0	0	0	0	0	0	1	1368	1103	39	1		1	BCL11B	14	99641175	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3970885	99641175	7708365	410	52064											
DYNC1H1	1778	broad.mit.edu	37	chr14	102500485	102500485	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgcgtcagaacttgtTcactacctggtcccatcacc	9	10	8	14	1	3	2	3	0	0	2	4	2	4	2	3	1	3	2	3	1	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:102500485T>G	ENST00000360184.4	+	55	10750	c.10586T>G	c.(10585-10587)tTc>tGc	p.F3529C	DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3529					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGAACTTGTTCACTACCTGG	0.507													41	219					0	0	0	0	G	102500485	T	G	102500485	3	3	292	1	0	0	0	0	1	0	0	0	4877	1783	62	5	10804	5	DYNC1H1	14	102500485	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	2859310	102500485	4849055	411	52065											
CDC42BPB	9578	broad.mit.edu	37	chr14	103416154	103416154	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgggtggattttccttCaggcagatcatacaggaaga	11	10	13	7	0	2	2	2	0	0	2	3	4	3	4	1	5	1	2	1	5	2	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:103416154C>A	ENST00000361246.2	-	26	3685	c.3397G>T	c.(3397-3399)Gaa>Taa	p.E1133*		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1133	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GATTTTCCTTCAGGCAGATCA	0.527													52	90					8.78508e-14	1.62849e-13	1	0	A	103416154	C	A	103416154	4	1	292	1	0	0	0	0	0	1	0	0	3102	835	29	2	1786	2	CDC42BPB	14	103416154	Nonsense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	915669	103416154	3933386	412	52066											
GPR132	29933	broad.mit.edu	37	chr14	105521755	105521755	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcagtagcattgggcaCattcacattcttctgcaacc	9	15	6	11	0	4	0	2	0	2	0	4	0	4	0	1	1	3	4	1	1	2	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:105521755C>A	ENST00000329797.3	-	3	914	c.3G>T	c.(1-3)atG>atT	p.M1I	GPR132_ENST00000546679.1_Intron|GPR132_ENST00000539291.2_Start_Codon_SNP_p.M1I|GPR132_ENST00000392585.2_Intron	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	1					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		gcattgggcacattcacattc	0.443													51	96					9.90819e-18	1.95238e-17	1	0	A	105521755	C	A	105521755	1	1	292	1	0	0	0	0	0	0	0	0	6691	478	17	4		4	GPR132	14	105521755	Translation_Start_Site	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2105601	105521755	1827785	413	52067											
MTA1	9112	broad.mit.edu	37	chr14	105926711	105926711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagctctgtgggcaccttcGcacgggccctggactgcagc	5	7	13	16	2	1	0	0	0	1	0	2	1	1	1	3	3	3	4	3	3	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:105926711G>T	ENST00000331320.7	+	9	884	c.670G>T	c.(670-672)Gca>Tca	p.A224S	MTA1_ENST00000406191.1_Missense_Mutation_p.A224S|MTA1_ENST00000405646.1_Missense_Mutation_p.A207S	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	224	ELM2.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GGGCACCTTCGCACGGGCCCT	0.687													9	37					7.48243e-07	1.21392e-06	1	0	T	105926711	G	T	105926711	3	4	292	1	0	0	0	0	1	0	0	0	9978	1087	38	3	704	3	MTA1	14	105926711	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	404956	105926711	1422829	414	52068											
OR4N4	283694	broad.mit.edu	37	chr15	22383249	22383249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctatcttcatctacatGtgccctttcagggccttacc	6	14	6	15	0	4	0	2	0	2	0	4	0	4	0	4	1	4	1	4	1	3	5	rs112081824	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:22383249G>T	ENST00000328795.4	+	1	868	c.777G>T	c.(775-777)atG>atT	p.M259I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCATCTACATGTGCCCTTTCA	0.453													41	208					3.43241e-23	6.95516e-23	1	0	T	22383249	G	T	22383249	3	4	292	1	0	0	0	0	1	0	0	0	11149	1377	48	4	779	4	OR4N4	15	22383249	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08		22383249	80148143	415	52069											
MAGEL2	54551	broad.mit.edu	37	chr15	23890840	23890840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcggtgcctgccaggaagGctggagcggcagtgtgggca	7	5	20	9	2	0	0	0	0	0	0	0	2	0	2	2	7	3	3	2	7	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:23890840G>A	ENST00000532292.1	-	1	335	c.241C>T	c.(241-243)Cct>Tct	p.P81S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGCCAGGAAGGCTGGAGCGGC	0.667													6	9					0	0	0	0	A	23890840	G	A	23890840	3	1	292	1	0	0	0	0	1	0	0	0	9258	1203	42	4	1703	4	MAGEL2	15	23890840	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1507591	23890840	78640552	416	52070											
ATP10A	57194	broad.mit.edu	37	chr15	26026179	26026179	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacttacaagctccgagaagCcgcggaccacctgccgccgc	9	4	10	18	5	0	1	0	0	0	1	1	3	1	2	6	1	4	1	6	1	3	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:26026179C>G	ENST00000356865.6	-	2	752	c.641G>C	c.(640-642)gGc>gCc	p.G214A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	214					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTCCGAGAAGCCGCGGACCAC	0.612													13	68					0	0	0	0	G	26026179	C	G	26026179	3	3	292	1	0	0	0	0	1	0	0	0	1120	739	26	4	3938	4	ATP10A	15	26026179	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2135339	26026179	76505213	417	52071											
SPTBN5	51332	broad.mit.edu	37	chr15	42167082	42167082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttccaggatggccggggagGcggccatgccatgggccatg	6	6	17	12	2	0	0	0	0	0	0	1	2	1	2	5	7	1	0	5	7	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:42167082G>A	ENST00000320955.6	-	23	4687	c.4460C>T	c.(4459-4461)gCc>gTc	p.A1487V		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1487					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCCGGGGAGGCGGCCATGCC	0.637													8	44					0	0	0	0	A	42167082	G	A	42167082	3	1	292	1	0	0	0	0	1	0	0	0	15212	1203	42	4	6748	4	SPTBN5	15	42167082	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	16140903	42167082	60364310	418	52072											
EPB42	2038	broad.mit.edu	37	chr15	43507460	43507460	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccactgcactccaccacTttcggtcccccagactggaa	9	7	6	19	1	0	1	0	0	0	1	3	2	2	2	6	2	1	1	6	2	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:43507460T>C	ENST00000300215.3	-	3	810	c.353A>G	c.(352-354)aAg>aGg	p.K118R	EPB42_ENST00000540029.1_Intron|EPB42_ENST00000441366.2_Missense_Mutation_p.K88R			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	88					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACTCCACCACTTTCGGTCCCC	0.562													29	88					0	0	0	0	C	43507460	T	C	43507460	3	2	292	1	0	0	0	0	1	0	0	0	5196	1609	56	5	1856	5	EPB42	15	43507460	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	1340378	43507460	59023932	419	52073											
GATM	2628	broad.mit.edu	37	chr15	45660362	45660362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgataattgacctgtacgctCggtactcaaagaagcgtgaa	13	10	10	8	3	1	4	1	3	0	1	2	4	1	4	1	1	3	3	1	1	6	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:45660362C>T	ENST00000396659.3	-	4	920	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	GATM_ENST00000558336.1_Missense_Mutation_p.R194Q	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	194					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	CCTGTACGCTCGGTACTCAAA	0.493													11	43					0	0	0	0	T	45660362	C	T	45660362	3	4	292	1	0	0	0	0	1	0	0	0	6312	884	31	1	714	1	GATM	15	45660362	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2152902	45660362	56871030	420	52074											
PRTG	283659	broad.mit.edu	37	chr15	55965629	55965629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tactgatgactctcccagccCcactctggtggcagcagtaa	9	9	9	14	0	2	2	0	2	2	0	3	2	2	2	3	2	3	3	3	2	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:55965629C>T	ENST00000389286.4	-	10	1839	c.1792G>A	c.(1792-1794)Ggg>Agg	p.G598R		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	598	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCTCCCAGCCCCACTCTGGTG	0.488													18	70					0	0	0	0	T	55965629	C	T	55965629	3	4	292	1	0	0	0	0	1	0	0	0	12717	623	22	4	1704	4	PRTG	15	55965629	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	10305267	55965629	46565763	421	52075											
AQP9	366	broad.mit.edu	37	chr15	58458911	58458911	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcccaagctattctcagtCgaggacgttttggaggggtc	7	12	13	9	2	1	0	1	0	1	0	4	3	1	2	1	4	2	2	1	4	2	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:58458911C>T	ENST00000219919.4	+	2	521	c.151C>T	c.(151-153)Cga>Tga	p.R51*	AQP9_ENST00000536493.1_Nonsense_Mutation_p.R51*|AQP9_ENST00000558772.1_5'UTR|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	51					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.R51*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TATTCTCAGTCGAGGACGTTT	0.468													51	186					0	0	0	0	T	58458911	C	T	58458911	4	4	292	1	0	0	0	0	0	1	0	0	835	876	31	1	157	1	AQP9	15	58458911	Nonsense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2493282	58458911	44072481	422	52076											
CA12	771	broad.mit.edu	37	chr15	63632630	63632630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatgttgaatcccgggaCgaatgcttcctggcctagag	9	11	11	10	2	1	2	1	1	0	1	3	4	3	3	3	2	1	2	3	2	4	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:63632630C>T	ENST00000178638.3	-	7	1044	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	CA12_ENST00000422263.2_Missense_Mutation_p.V142I|CA12_ENST00000344366.3_Missense_Mutation_p.V202I	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	202					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	AATCCCGGGACGAATGCTTCC	0.562													12	49					0	0	0	0	T	63632630	C	T	63632630	3	4	292	1	0	0	0	0	1	0	0	0	2538	536	19	1	480	1	CA12	15	63632630	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	5173719	63632630	38898762	423	52077											
IQCH	64799	broad.mit.edu	37	chr15	67757586	67757586	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggaagtgccccgctttgTtccaaaggaaaggaagaaaa	14	7	11	9	1	0	1	0	0	0	1	1	4	1	4	4	3	1	2	4	3	6	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:67757586T>G	ENST00000335894.4	+	17	2693	c.2627T>G	c.(2626-2628)gTt>gGt	p.V876G	IQCH_ENST00000358767.3_Missense_Mutation_p.V612G|IQCH_ENST00000546225.1_Missense_Mutation_p.V533G|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_Missense_Mutation_p.V537G	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	876										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCCCGCTTTGTTCCAAAGGAA	0.517													45	48					0	0	0	0	G	67757586	T	G	67757586	3	3	292	1	0	0	0	0	1	0	0	0	7864	1725	60	5	2821	5	IQCH	15	67757586	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	4124956	67757586	34773806	424	52078											
ACAN	176	broad.mit.edu	37	chr15	89403596	89403596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaggagccctgtggagctgGgacctgcaaggagacagagg	11	4	18	8	0	0	3	0	0	0	3	0	7	0	6	2	5	3	2	2	5	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:89403596G>T	ENST00000439576.2	+	13	7246	c.6872G>T	c.(6871-6873)gGg>gTg	p.G2291V	ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Missense_Mutation_p.G2291V|ACAN_ENST00000559004.1_Intron	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2291					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGGAGCTGGGACCTGCAAG	0.617													20	18					1.00905e-13	1.86702e-13	1	0	T	89403596	G	T	89403596	3	4	292	1	0	0	0	0	1	0	0	0	117	1232	43	4	6918	4	ACAN	15	89403596	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	21646010	89403596	13127796	425	52079											
ARRDC4	91947	broad.mit.edu	37	chr15	98513117	98513117	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttttggcttattaggtatAcattcacattcctggtgcta	8	19	7	7	0	1	0	1	0	0	0	2	0	2	0	1	3	2	3	1	3	5	10			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:98513117A>G	ENST00000268042.6	+	6	1051	c.887A>G	c.(886-888)tAc>tGc	p.Y296C	ARRDC4_ENST00000538249.1_Missense_Mutation_p.Y209C	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	296					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TATTAGGTATACATTCACATT	0.353													10	37					0	0	0	0	G	98513117	A	G	98513117	3	3	292	1	0	0	0	0	1	0	0	0	989	391	14	5	909	5	ARRDC4	15	98513117	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	9109521	98513117	4018275	426	52080											
WDR24	84219	broad.mit.edu	37	chr16	737322	737322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacacgggccaccgaggCgatggtctgcacacagtgca	9	6	12	14	3	2	0	1	0	1	0	2	2	2	0	2	3	2	2	2	3	0	1	rs145838196	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:737322C>T	ENST00000293883.4	-	3	1513	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	WDR24_ENST00000248142.6_Missense_Mutation_p.A382T	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	338										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GCCACCGAGGCGATGGTCTGC	0.637													21	59					0	0	0	0	T	737322	C	T	737322	3	4	292	1	0	0	0	0	1	0	0	0	17377	768	27	1	1646	1	WDR24	16	737322	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08		737322	89617431	427	52081											
SOX8	30812	broad.mit.edu	37	chr16	1035270	1035270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaccagtacccctgcttcCactcgccgcgccggccctac	5	8	7	21	4	1	0	0	0	1	0	3	0	2	0	7	1	4	2	7	1	3	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:1035270C>T	ENST00000293894.3	+	3	1340	c.1225C>T	c.(1225-1227)Cac>Tac	p.H409Y		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	409					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCCCTGCTTCCACTCGCCGCG	0.697													10	40					0	0	0	0	T	1035270	C	T	1035270	3	4	292	1	0	0	0	0	1	0	0	0	15045	594	21	4	1235	4	SOX8	16	1035270	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	297948	1035270	89319483	428	52082											
GLYR1	84656	broad.mit.edu	37	chr16	4861228	4861228	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgcatcacccagcgcaatGgctaagcggagatccttctg	10	7	10	14	3	2	1	1	0	1	1	3	2	3	1	3	2	2	3	3	2	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:4861228G>T	ENST00000321919.9	-	15	1606	c.1530C>A	c.(1528-1530)gcC>gcA	p.A510A	GLYR1_ENST00000591451.1_Silent_p.A504A|GLYR1_ENST00000381983.3_Silent_p.A493A|GLYR1_ENST00000436648.5_Silent_p.A429A	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	510					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCAGCGCAATGGCTAAGCGGA	0.498													35	119					4.62619e-21	9.24315e-21	1	0	T	4861228	G	T	4861228	2	4	292	1	0	0	0	0	0	0	0	1	6534	1335	47	4		4	GLYR1	16	4861228	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3825958	4861228	85493525	429	52083											
GRIN2A	2903	broad.mit.edu	37	chr16	9858285	9858285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagtgggtcctattctctGctgttgcctcatccctctgg	3	14	12	12	0	3	0	1	0	2	0	6	1	5	1	3	3	2	2	3	3	1	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:9858285G>T	ENST00000396573.2	-	14	3425	c.3116C>A	c.(3115-3117)gCa>gAa	p.A1039E	GRIN2A_ENST00000404927.2_Missense_Mutation_p.A1039E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A882E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A1039E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1039E|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1039E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1039					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTATTCTCTGCTGTTGCCTC	0.537													88	101					4.92795e-40	1.0385e-39	1	0	T	9858285	G	T	9858285	3	4	292	1	0	0	0	0	1	0	0	0	6829	1319	46	4	1282	4	GRIN2A	16	9858285	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	4997057	9858285	80496468	430	52084											
TMC5	79838	broad.mit.edu	37	chr16	19488760	19488760	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgttgtctcttctgtttAgaaacatctttttgaaaata	13	18	5	5	0	3	2	0	1	3	1	4	2	3	2	0	0	1	2	0	0	6	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:19488760A>T	ENST00000396229.2	+	13	2839		c.e13-1		TMC5_ENST00000219821.5_Splice_Site|TMC5_ENST00000561503.1_Splice_Site|TMC5_ENST00000541464.1_Splice_Site|TMC5_ENST00000542583.2_Splice_Site|TMC5_ENST00000381414.4_Splice_Site|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000564959.1_Splice_Site	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5							integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTTCTGTTTAGAAACATCTT	0.398													15	48					0	0	0	0	T	19488760	A	T	19488760	5	4	292	1	0	0	0	0	0	0	1	0	16082	434	15	5	2445	5	TMC5	16	19488760	Splice_Site	SNP	A	TCGA-CV-7245-01A-11D-2012-08	9630475	19488760	70865993	431	52085											
SCNN1G	6340	broad.mit.edu	37	chr16	23203779	23203779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatcatggcacaggtgcCtctggagaagaaaatcaaca	16	6	10	9	0	3	2	2	0	1	2	3	4	3	2	1	3	3	1	1	3	5	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:23203779C>A	ENST00000300061.2	+	4	868	c.725C>A	c.(724-726)cCt>cAt	p.P242H		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	242					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCACAGGTGCCTCTGGAGAAG	0.498													19	61					7.07596e-05	0.000107809	1	0	A	23203779	C	A	23203779	3	1	292	1	0	0	0	0	1	0	0	0	14017	681	24	4	735	4	SCNN1G	16	23203779	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3715019	23203779	67150974	432	52086											
STX4	6810	broad.mit.edu	37	chr16	31049253	31049253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcttcatctttagcatgggGtcctgtcccagcaattcgtg	6	15	9	11	1	3	0	1	0	2	0	6	0	5	0	2	2	2	2	2	2	2	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:31049253G>C	ENST00000394998.1	+	7	722	c.379G>C	c.(379-381)Gtc>Ctc	p.V127L	STX4_ENST00000313843.3_Missense_Mutation_p.V129L|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	129					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TTAGCATGGGGTCCTGTCCCA	0.537													21	83					0	0	0	0	C	31049253	G	C	31049253	3	2	292	1	0	0	0	0	1	0	0	0	15437	1261	44	4	407	4	STX4	16	31049253	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	7845474	31049253	59305500	433	52087											
HEATR3	55027	broad.mit.edu	37	chr16	50118116	50118116	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttatggagaattccttcAgtgagtgcgggggacagctg	9	11	14	7	1	1	2	1	1	0	1	2	4	2	3	1	3	2	1	1	3	2	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:50118116A>G	ENST00000299192.7	+	9	1395	c.1204A>G	c.(1204-1206)Agt>Ggt	p.S402G	HEATR3_ENST00000564942.1_3'UTR|HEATR3_ENST00000285767.4_Missense_Mutation_p.S316G	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	402							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAATTCCTTCAGTGAGTGCGG	0.502													15	81					0	0	0	0	G	50118116	A	G	50118116	3	3	292	1	0	0	0	0	1	0	0	0	7079	188	7	5	1238	5	HEATR3	16	50118116	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	19068863	50118116	40236637	434	52088											
NOD2	64127	broad.mit.edu	37	chr16	50733572	50733572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggccagcctctctccCacttggccaggcgccttctg	3	10	10	18	1	2	0	0	0	2	0	5	0	4	0	6	3	1	0	6	3	0	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:50733572C>A	ENST00000300589.2	+	2	352	c.247C>A	c.(247-249)Cac>Aac	p.H83N	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	83	CARD 1.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCCTCTCTCCCACTTGGCCAG	0.637													53	49					9.55421e-19	1.89007e-18	1	0	A	50733572	C	A	50733572	3	1	292	1	0	0	0	0	1	0	0	0	10587	594	21	4	253	4	NOD2	16	50733572	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	615456	50733572	39621181	435	52089											
SALL1	6299	broad.mit.edu	37	chr16	51174936	51174936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagggctggggaaaaccgaGttagcggaggcttgctgagg	11	6	18	6	2	0	1	0	1	0	0	0	4	0	3	1	6	3	4	1	6	4	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:51174936G>T	ENST00000440970.1	-	2	1337	c.906C>A	c.(904-906)aaC>aaA	p.N302K	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.N399K|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	399					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGAAAACCGAGTTAGCGGAGG	0.498													32	148					1.62565e-12	2.95868e-12	1	0	T	51174936	G	T	51174936	3	4	292	1	0	0	0	0	1	0	0	0	13895	1020	36	4	2785	4	SALL1	16	51174936	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	441364	51174936	39179817	436	52090											
SLC12A3	6559	broad.mit.edu	37	chr16	56899255	56899255	+	Silent	SNP	C	C	T																															gagccctctccaccagctgcCtatgacagcagccaccccag																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:56899255C>T	ENST00000438926.2	+	1	137	c.108C>T	c.(106-108)gcC>gcT	p.A36A	SLC12A3_ENST00000262502.5_Silent_p.A36A|SLC12A3_ENST00000566786.1_Silent_p.A36A|SLC12A3_ENST00000563236.1_Silent_p.A36A	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	36					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CACCAGCTGCCTATGACAGCA	0.597													35	162					0	0	0	0	T	56899255	C	T	56899255	2	4	292	1	0	0	0	0	0	0	0	1	14472	668	24	4		4	SLC12A3	16	56899255	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	5724319	56899255	33455498	437	52091	410	2									
SLC12A3	6559	broad.mit.edu	37	chr16	56899257	56899257	+	Missense_Mutation	SNP	A	A	T																															gccctctccaccagctgcctAtgacagcagccaccccagcc																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:56899257A>T	ENST00000438926.2	+	1	139	c.110A>T	c.(109-111)tAt>tTt	p.Y37F	SLC12A3_ENST00000262502.5_Missense_Mutation_p.Y37F|SLC12A3_ENST00000566786.1_Missense_Mutation_p.Y37F|SLC12A3_ENST00000563236.1_Missense_Mutation_p.Y37F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	37					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCAGCTGCCTATGACAGCAGC	0.597													38	164					0	0	0	0	T	56899257	A	T	56899257	3	4	292	1	0	0	0	0	1	0	0	0	14472	449	16	5	112	5	SLC12A3	16	56899257	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	2	56899257	33455496	438	52092	410	2									
SLC12A3	6559	broad.mit.edu	37	chr16	56917998	56917998	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatactacaacaagtgggcGgcgctgtttggggctatcat	10	10	12	9	2	1	0	1	0	0	0	1	0	1	0	0	4	3	3	0	4	6	4	rs138625602		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:56917998G>T	ENST00000438926.2	+	14	1736	c.1707G>T	c.(1705-1707)gcG>gcT	p.A569A	SLC12A3_ENST00000262502.5_Silent_p.A568A|SLC12A3_ENST00000566786.1_Silent_p.A568A|SLC12A3_ENST00000563236.1_Silent_p.A569A	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	569			A -> E (in GS).|A -> V (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ACAAGTGGGCGGCGCTGTTTG	0.592													10	83					1.08611e-07	1.78521e-07	1	0	T	56917998	G	T	56917998	2	4	292	1	0	0	0	0	0	0	0	1	14472	1103	39	3		3	SLC12A3	16	56917998	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	18741	56917998	33436755	439	52093											
ZFP90	146198	broad.mit.edu	37	chr16	68591909	68591909	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgattttacaggaatcagtGacattcaaagatgtgtctgt	12	14	10	5	0	3	3	2	2	1	1	3	4	3	4	0	1	1	0	0	1	3	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:68591909G>A	ENST00000570495.1	+	3	334	c.42G>A	c.(40-42)gtG>gtA	p.V14V	ZFP90_ENST00000570884.1_3'UTR|ZFP90_ENST00000564323.1_Silent_p.V14V|ZFP90_ENST00000563169.2_Silent_p.V14V|ZFP90_ENST00000398253.2_Silent_p.V14V			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	14	KRAB.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGGAATCAGTGACATTCAAAG	0.463													22	135					0	0	0	0	A	68591909	G	A	68591909	2	1	292	1	0	0	0	0	0	0	0	1	17749	1277	45	2		2	ZFP90	16	68591909	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	11673911	68591909	21762844	440	52094											
HAS3	3038	broad.mit.edu	37	chr16	69148385	69148385	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcatgtaccgcaacaGcctcctccagcagttcctgg	7	9	10	15	1	0	0	0	0	0	0	3	0	3	0	5	2	4	5	5	2	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:69148385G>C	ENST00000306560.1	+	4	1034	c.878G>C	c.(877-879)aGc>aCc	p.S293T	HAS3_ENST00000569188.1_Missense_Mutation_p.S293T|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	293					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TACCGCAACAGCCTCCTCCAG	0.597													26	87					0	0	0	0	C	69148385	G	C	69148385	3	2	292	1	0	0	0	0	1	0	0	0	7013	971	34	4	888	4	HAS3	16	69148385	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	556476	69148385	21206368	441	52095											
DHX38	9785	broad.mit.edu	37	chr16	72132917	72132917	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacagaagacacttggggTccaccccgcgtctgtccagg	9	7	12	13	2	1	3	0	1	1	2	3	3	3	3	4	3	0	0	4	3	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:72132917T>A	ENST00000268482.3	+	6	1365	c.856T>A	c.(856-858)Tcc>Acc	p.S286T	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	286					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACACTTGGGGTCCACCCCGCG	0.617													8	23					0	0	0	0	A	72132917	T	A	72132917	3	1	292	1	0	0	0	0	1	0	0	0	4548	1667	58	5	874	5	DHX38	16	72132917	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	2984532	72132917	18221836	442	52096											
CTRB2	440387	broad.mit.edu	37	chr16	75238069	75238069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgcgggctcagttggcgGccaggatcttctgcacccag	6	8	14	13	2	3	0	1	0	2	0	3	1	3	1	2	4	3	4	2	4	0	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:75238069G>T	ENST00000303037.8	-	7	825	c.782C>A	c.(781-783)gCc>gAc	p.A261D		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	261	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|lung(2)	4						TCAGTTGGCGGCCAGGATCTT	0.607													51	79					4.17463e-26	8.52817e-26	1	0	T	75238069	G	T	75238069	3	4	292	1	0	0	0	0	1	0	0	0	4058	1203	42	4	13	4	CTRB2	16	75238069	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3105152	75238069	15116684	443	52097											
NUDT7	283927	broad.mit.edu	37	chr16	77759434	77759434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtccttttgccattggtgGctaaagaaggaaaactccat	11	11	9	10	1	0	1	0	0	0	1	2	2	2	2	4	3	2	1	4	3	5	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:77759434G>T	ENST00000268533.5	+	2	211	c.142G>T	c.(142-144)Gct>Tct	p.A48S	NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000568787.1_Missense_Mutation_p.A48S|NUDT7_ENST00000564085.1_Missense_Mutation_p.A48S|NUDT7_ENST00000437314.3_Missense_Mutation_p.A48S	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	48	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GCCATTGGTGGCTAAAGAAGG	0.428													12	50					0.00136819	0.00202898	1	0	T	77759434	G	T	77759434	3	4	292	1	0	0	0	0	1	0	0	0	10815	1203	42	4	148	4	NUDT7	16	77759434	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2521365	77759434	12595319	444	52098											
VAT1L	57687	broad.mit.edu	37	chr16	77918505	77918505	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataccacctctctttgcagTggtggcaggtggagaaggtg	9	10	14	8	0	1	1	0	0	1	1	2	2	1	1	2	5	2	2	2	5	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:77918505T>C	ENST00000302536.2	+	7	1036	c.882_splice	c.e7-1	p.W295_splice		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	295							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTCTTTGCAGTGGTGGCAGGT	0.502													8	23					0	0	0	0	C	77918505	T	C	77918505	5	2	292	1	0	0	0	0	0	0	1	0	17226	1710	59	5	909	5	VAT1L	16	77918505	Splice_Site	SNP	T	TCGA-CV-7245-01A-11D-2012-08	159071	77918505	12436248	445	52099											
SNAI3	333929	broad.mit.edu	37	chr16	88747799	88747799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagtttttccggagcccCgtgccggtctgggcccaagg	6	8	14	13	3	1	0	0	0	1	0	2	1	2	1	5	4	3	2	5	4	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:88747799C>T	ENST00000332281.5	-	2	486	c.400G>A	c.(400-402)Ggg>Agg	p.G134R	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	134					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	p.G134R(1)		NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		TCCGGAGCCCCGTGCCGGTCT	0.667													59	75					0	0	0	0	T	88747799	C	T	88747799	3	4	292	1	0	0	0	0	1	0	0	0	14916	652	23	1	486	1	SNAI3	16	88747799	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	10829294	88747799	1606954	446	52100											
DPEP1	1800	broad.mit.edu	37	chr16	89696828	89696828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaccccaccatgtggagcGgatggtggctgtggcccctt	5	8	16	12	1	0	0	0	0	0	0	0	3	0	3	5	6	1	1	5	6	0	1	rs150374214	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:89696828G>A	ENST00000393092.3	+	2	301	c.10G>A	c.(10-12)Gga>Aga	p.G4R	DPEP1_ENST00000421184.1_Missense_Mutation_p.G4R|DPEP1_ENST00000261615.4_Missense_Mutation_p.G4R	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	4					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CATGTGGAGCGGATGGTGGCT	0.632													16	91					0	0	0	0	A	89696828	G	A	89696828	3	1	292	1	0	0	0	0	1	0	0	0	4749	1117	39	1	12	1	DPEP1	16	89696828	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	949029	89696828	657925	447	52101											
USP6	9098	broad.mit.edu	37	chr17	5050447	5050447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcatttgaaattcctGtcccttcatctccaatttca	8	17	5	11	0	3	1	2	1	1	0	6	1	5	1	3	0	1	1	3	0	2	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:5050447G>A	ENST00000574788.1	+	29	4619	c.2389G>A	c.(2389-2391)Gtc>Atc	p.V797I	USP6_ENST00000332776.4_Intron|USP6_ENST00000250066.6_Missense_Mutation_p.V797I|USP6_ENST00000304328.5_Missense_Mutation_p.V480I			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	797					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGAAATTCCTGTCCCTTCATC	0.398			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								17	39					0	0	0	0	A	5050447	G	A	5050447	3	1	292	1	0	0	0	0	1	0	0	0	17182	1377	48	4	2467	4	USP6	17	5050447	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08		5050447	76144763	448	52102											
ACAP1	9744	broad.mit.edu	37	chr17	7239939	7239939	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggcccttccccgcggAggtccctctcctccttcccc	2	8	7	24	2	1	0	0	0	1	0	6	1	5	1	10	3	0	0	10	3	0	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:7239939A>T	ENST00000158762.3	+	0	92					NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1						intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TTCCCCGCGGAGGTCCCTCTC	0.677													8	13					0	0	0	0	T	7239939	A	T	7239939	1	4	292	1	0	0	0	0	0	0	0	0	118	319	11	5		5	ACAP1	17	7239939	Translation_Start_Site	SNP	A	TCGA-CV-7245-01A-11D-2012-08	2189492	7239939	73955271	449	52103											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	14					0	0	0	0	A	7577094	G	A	7577094	3	1	292	1	0	0	0	0	1	0	0	0	16476	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	337155	7577094	73618116	450	52104											
ELAC2	60528	broad.mit.edu	37	chr17	12916588	12916588	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggcagagtggggccgCacagctacaagaaaaccaca	13	4	13	11	1	1	2	0	0	1	2	1	2	1	2	2	4	3	3	2	4	4	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:12916588C>A	ENST00000338034.4	-	6	734	c.495G>T	c.(493-495)gtG>gtT	p.V165V	ELAC2_ENST00000395962.2_Silent_p.V146V|ELAC2_ENST00000578071.1_5'UTR|ELAC2_ENST00000426905.3_Silent_p.V165V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	165				V -> M (in Ref. 2; AK001392).	tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AGTGGGGCCGCACAGCTACAA	0.493													9	15					3.09899e-07	5.06876e-07	1	0	A	12916588	C	A	12916588	2	1	292	1	0	0	0	0	0	0	0	1	5085	697	25	4		4	ELAC2	17	12916588	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	5339494	12916588	68278622	451	52105											
CDRT1	374286	broad.mit.edu	37	chr17	15517267	15517267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagattgcagggatcgtaccCtggcttggttatgtctgctt	6	15	12	8	1	1	1	0	0	1	1	2	2	1	2	1	3	3	5	1	3	3	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:15517267C>G	ENST00000455584.2	-	9	1724	c.1681G>C	c.(1681-1683)Ggg>Cgg	p.G561R	CDRT1_ENST00000395906.3_Missense_Mutation_p.G251R																							GGATCGTACCCTGGCTTGGTT	0.478													8	121					0	0	0	0	G	15517267	C	G	15517267	3	3	292	1	0	0	0	0	1	0	0	0	3203	681	24	4	1547	4	CDRT1	17	15517267	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2600679	15517267	65677943	452	52106											
NCOR1	9611	broad.mit.edu	37	chr17	16068406	16068406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgaaggtgaagcattttGatcatctccacatggttgcc	9	15	9	8	0	2	3	1	3	1	0	3	3	2	3	2	2	2	2	2	2	2	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:16068406G>C	ENST00000268712.3	-	5	762	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E	NCOR1_ENST00000395848.1_Missense_Mutation_p.Q60E|NCOR1_ENST00000395851.1_Missense_Mutation_p.Q169E	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	169	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAAGCATTTTGATCATCTCCA	0.393													3	98					0	0	0	0	C	16068406	G	C	16068406	3	2	292	1	0	0	0	0	1	0	0	0	10305	1299	45	2	6985	2	NCOR1	17	16068406	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	551139	16068406	65126804	453	52107											
C17orf66	256957	broad.mit.edu	37	chr17	34182684	34182684	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacactcttcttcacagccTggtggttttctgcatctagt	6	17	7	11	0	5	0	1	0	4	0	5	0	5	0	1	2	3	2	1	2	2	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:34182684T>A	ENST00000311880.2	-	14	1497	c.1349A>T	c.(1348-1350)cAg>cTg	p.Q450L	C17orf66_ENST00000592980.1_Missense_Mutation_p.Q410L	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	450							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTTCACAGCCTGGTGGTTTTC	0.532													43	43					0	0	0	0	A	34182684	T	A	34182684	3	1	292	1	0	0	0	0	1	0	0	0	1889	1580	55	5	371	5	C17orf66	17	34182684	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	18114278	34182684	47012526	454	52108											
CCR7	1236	broad.mit.edu	37	chr17	38711638	38711638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgcgggcacggtggcggtGagctgagacagcctggacga	8	4	19	10	5	0	2	0	2	0	1	0	6	0	3	1	5	2	2	1	5	0	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:38711638G>A	ENST00000246657.2	-	3	555	c.493C>T	c.(493-495)Cac>Tac	p.H165Y	CCR7_ENST00000579344.1_Missense_Mutation_p.H159Y	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	165					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CGGTGGCGGTGAGCTGAGACA	0.552													5	31					0	0	0	0	A	38711638	G	A	38711638	3	1	292	1	0	0	0	0	1	0	0	0	2975	1290	45	2	647	2	CCR7	17	38711638	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	4528954	38711638	42483572	455	52109											
BECN1	8678	broad.mit.edu	37	chr17	40970594	40970594	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactcattttcagtgacgttGagctgagtgtccagctggtc	7	13	11	10	1	2	3	2	3	0	0	4	3	3	3	1	1	2	3	1	1	0	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:40970594G>C	ENST00000361523.4	-	6	588	c.456C>G	c.(454-456)ctC>ctG	p.L152L	BECN1_ENST00000590099.1_Silent_p.L152L|BECN1_ENST00000438274.3_Intron	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	152					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CAGTGACGTTGAGCTGAGTGT	0.512													14	57					0	0	0	0	C	40970594	G	C	40970594	2	2	292	1	0	0	0	0	0	0	0	1	1400	1277	45	2		2	BECN1	17	40970594	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2258956	40970594	40224616	456	52110											
BRCA1	672	broad.mit.edu	37	chr17	41226510	41226510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcatgtaccacctatcatCtaatgatgggcatttagaag	12	12	9	8	0	2	2	1	1	1	1	2	2	2	2	2	1	2	3	2	1	5	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:41226510C>T	ENST00000309486.4	-	13	4652	c.3625G>A	c.(3625-3627)Gat>Aat	p.D1209N	BRCA1_ENST00000468300.1_Missense_Mutation_p.D401N|BRCA1_ENST00000471181.2_Missense_Mutation_p.D1526N|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.D401N|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.D322N|BRCA1_ENST00000493795.1_Missense_Mutation_p.D1458N|BRCA1_ENST00000591534.1_5'UTR|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.D363N|BRCA1_ENST00000357654.3_Missense_Mutation_p.D1505N|BRCA1_ENST00000586385.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1505					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CACCTATCATCTAATGATGGG	0.443			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			11	38					0	0	0	0	T	41226510	C	T	41226510	3	4	292	1	0	0	0	0	1	0	0	0	1506	913	32	2	1118	2	BRCA1	17	41226510	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	255916	41226510	39968700	457	52111											
STRADA	92335	broad.mit.edu	37	chr17	61781806	61781806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtcaccgttggagggccggGgggtgctggtggtcaggctg	4	8	21	8	2	2	0	2	0	0	0	2	1	2	1	2	8	1	3	2	8	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:61781806G>A	ENST00000392950.4	-	9	1157	c.884C>T	c.(883-885)cCc>cTc	p.P295L	STRADA_ENST00000375840.4_Missense_Mutation_p.P274L|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000336174.6_Missense_Mutation_p.P332L|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000582137.1_Missense_Mutation_p.P303L|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000447001.3_Missense_Mutation_p.P288L|STRADA_ENST00000579340.1_3'UTR	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	332	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GGAGGGCCGGGGGGTGCTGGT	0.642													23	22					0	0	0	0	A	61781806	G	A	61781806	3	1	292	1	0	0	0	0	1	0	0	0	15414	1232	43	4	370	4	STRADA	17	61781806	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	20555296	61781806	19413404	458	52112											
LRRC37A3	374819	broad.mit.edu	37	chr17	62854905	62854905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattgtccttacctcaatgaGgcagagaagtataatcaaaa	16	11	7	7	0	2	2	2	1	0	1	3	3	3	2	2	1	1	2	2	1	8	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:62854905G>A	ENST00000584306.1	-	12	5331	c.4801C>T	c.(4801-4803)Ctc>Ttc	p.L1601F	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.L1601F|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.L719F|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.L578F|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.L639F	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1601						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACCTCAATGAGGCAGAGAAGT	0.378													9	48					0	0	0	0	A	62854905	G	A	62854905	3	1	292	1	0	0	0	0	1	0	0	0	9057	1000	35	4	115	4	LRRC37A3	17	62854905	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1073099	62854905	18340305	459	52113											
RGS9	8787	broad.mit.edu	37	chr17	63133680	63133680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatccgacaccaaggcCagcagtacaggccgaggatg	13	4	12	12	2	0	1	0	1	0	0	1	4	1	2	4	3	2	2	4	3	3	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:63133680C>A	ENST00000449996.3	+	1	94	c.22C>A	c.(22-24)Cag>Aag	p.Q8K	RGS9_ENST00000262406.9_Missense_Mutation_p.Q8K|RGS9_ENST00000443584.3_Missense_Mutation_p.Q8K	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	8					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ACACCAAGGCCAGCAGTACAG	0.617													18	43					4.63292e-17	8.97013e-17	1	0	A	63133680	C	A	63133680	3	1	292	1	0	0	0	0	1	0	0	0	13396	595	21	4	24	4	RGS9	17	63133680	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	278775	63133680	18061530	460	52114											
ITGB4	3691	broad.mit.edu	37	chr17	73738820	73738820	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcggccgccgcctggtaaaCatcaccatcatcaaggagca	11	6	9	15	3	3	0	3	0	0	0	4	1	3	1	4	3	2	2	4	3	3	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:73738820C>T	ENST00000200181.3	+	25	3127	c.2940C>T	c.(2938-2940)aaC>aaT	p.N980N	ITGB4_ENST00000579662.1_Silent_p.N980N|ITGB4_ENST00000449880.2_Silent_p.N980N|ITGB4_ENST00000339591.3_Silent_p.N980N|ITGB4_ENST00000450894.3_Silent_p.N980N	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	980	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTGGTAAACATCACCATCA	0.637													8	69					0	0	0	0	T	73738820	C	T	73738820	2	4	292	1	0	0	0	0	0	0	0	1	7950	477	17	4		4	ITGB4	17	73738820	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	10605140	73738820	7456390	461	52115											
DNAH17	8632	broad.mit.edu	37	chr17	76475623	76475623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatagccatggagaccgagCggaaggccaggtgctgcgtc	9	5	17	10	3	0	1	0	0	0	1	1	5	0	3	3	5	4	1	3	5	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:76475623C>A	ENST00000389840.5	-	50	7926	c.7802G>T	c.(7801-7803)cGc>cTc	p.R2601L	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.R2610L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGAGACCGAGCGGAAGGCCAG	0.607													22	139					4.35082e-09	7.40675e-09	1	0	A	76475623	C	A	76475623	3	1	292	1	0	0	0	0	1	0	0	0	4638	768	27	3	5672	3	DNAH17	17	76475623	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2736803	76475623	4719587	462	52116											
RNF213	57674	broad.mit.edu	37	chr17	78321975	78321975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgggcgggttcgcagcGgagtggctgtcgcaggagta	5	8	19	9	5	0	0	0	0	0	0	3	2	0	2	0	5	1	6	0	5	1	2	rs144070062	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:78321975G>A	ENST00000582970.1	+	29	9983	c.9840G>A	c.(9838-9840)gcG>gcA	p.A3280A	RNF213_ENST00000336301.6_Silent_p.A1353A|RNF213_ENST00000508628.2_Silent_p.A3329A	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTTCGCAGCGGAGTGGCTGT	0.617													31	42					0	0	0	0	A	78321975	G	A	78321975	2	1	292	1	0	0	0	0	0	0	0	1	13562	1103	39	1		1	RNF213	17	78321975	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1846352	78321975	2873235	463	52117											
ATP8B1	5205	broad.mit.edu	37	chr18	55368510	55368510	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagcaggggcactagtgtGgtgtaccaagccagggtaga	12	6	15	8	0	0	1	0	0	0	1	0	1	0	1	2	4	3	4	2	4	5	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:55368510G>A	ENST00000536015.1	-	5	548	c.429C>T	c.(427-429)acC>acT	p.T143T	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.T143T	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	143					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GCACTAGTGTGGTGTACCAAG	0.458													23	18					0	0	0	0	A	55368510	G	A	55368510	2	1	292	1	0	0	0	0	0	0	0	1	1198	1335	47	4		4	ATP8B1	18	55368510	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08		55368510	22708738	464	52118											
CNDP1	84735	broad.mit.edu	37	chr18	72245483	72245483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgagcctggaactaaaaCagtcatacctggccgagtta	13	9	10	9	1	1	2	1	2	0	0	1	4	1	3	3	2	4	1	3	2	5	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:72245483C>T	ENST00000582365.1	+	8	1025	c.959C>T	c.(958-960)aCa>aTa	p.T320I	CNDP1_ENST00000358821.3_Missense_Mutation_p.T363I			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	363					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGAACTAAAACAGTCATACCT	0.423													22	21					0	0	0	0	T	72245483	C	T	72245483	3	4	292	1	0	0	0	0	1	0	0	0	3623	478	17	4	1122	4	CNDP1	18	72245483	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	16876973	72245483	5831765	465	52119											
GALR1	2587	broad.mit.edu	37	chr18	74962925	74962925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggccatcgtgcactcgCggcgctcctcctccctcagg	4	8	11	18	5	1	0	1	0	0	0	6	0	4	0	4	3	1	2	4	3	0	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:74962925C>G	ENST00000299727.3	+	1	421	c.421C>G	c.(421-423)Cgg>Ggg	p.R141G		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	141					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CGTGCACTCGCGGCGCTCCTC	0.652													16	18					0	0	0	0	G	74962925	C	G	74962925	3	3	292	1	0	0	0	0	1	0	0	0	6276	759	27	3	423	3	GALR1	18	74962925	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2717442	74962925	3114323	466	52120											
ADNP2	22850	broad.mit.edu	37	chr18	77896155	77896155	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagacctgcaggcccagccGggttttattcacaacagtga	10	9	10	12	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:77896155G>C	ENST00000262198.4	+	4	3314	c.2859G>C	c.(2857-2859)ccG>ccC	p.P953P		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	953					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGGCCCAGCCGGGTTTTATTC	0.532													22	29					0	0	0	0	C	77896155	G	C	77896155	2	2	292	1	0	0	0	0	0	0	0	1	324	1103	39	3		3	ADNP2	18	77896155	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2933230	77896155	181093	467	52121											
DPP9	91039	broad.mit.edu	37	chr19	4704017	4704017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagattttggggtccatcCggggccctgagcactgggtc	5	9	16	11	1	0	2	0	1	0	1	3	2	2	2	3	6	1	2	3	6	0	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:4704017C>T	ENST00000262960.9	-	7	927	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	DPP9_ENST00000597849.1_Missense_Mutation_p.R217Q|DPP9_ENST00000598800.1_Missense_Mutation_p.R188Q|DPP9_ENST00000594671.1_Missense_Mutation_p.R188Q	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	188					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGGGTCCATCCGGGGCCCTGA	0.637													13	25					0	0	0	0	T	4704017	C	T	4704017	3	4	292	1	0	0	0	0	1	0	0	0	4769	652	23	1	2092	1	DPP9	19	4704017	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08		4704017	54424966	468	52122											
SLC25A23	79085	broad.mit.edu	37	chr19	6442073	6442073	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaataaccttcatgaagttGggggcgatcccccggtagag	10	8	14	9	2	1	2	1	1	0	1	2	4	2	3	3	4	1	2	3	4	4	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:6442073G>T	ENST00000301454.4	-	10	1426	c.1320C>A	c.(1318-1320)ccC>ccA	p.P440P	SLC25A23_ENST00000601760.1_Intron|SLC25A23_ENST00000414491.2_Silent_p.P201P	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	440					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						TCATGAAGTTGGGGGCGATCC	0.622													8	48					0.000274275	0.000411002	1	0	T	6442073	G	T	6442073	2	4	292	1	0	0	0	0	0	0	0	1	14574	1335	47	4		4	SLC25A23	19	6442073	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1738056	6442073	52686910	469	52123											
PNPLA6	10908	broad.mit.edu	37	chr19	7626150	7626150	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccggacccgactgctcgAgggatgaaggggggtccccc	7	4	16	14	4	0	1	0	1	0	0	2	5	1	3	4	5	1	1	4	5	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:7626150A>T	ENST00000221249.6	+	34	4287	c.3856A>T	c.(3856-3858)Agg>Tgg	p.R1286W	PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1324W|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1259W|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1286W|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1334W	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1325					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CGACTGCTCGAGGGATGAAGG	0.657													5	21					0	0	0	0	T	7626150	A	T	7626150	3	4	292	1	0	0	0	0	1	0	0	0	12241	295	11	5	4126	5	PNPLA6	19	7626150	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	1184077	7626150	51502833	470	52124											
RAB11B	9230	broad.mit.edu	37	chr19	8464858	8464858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcgtggagttcgccacccGcagcatccaggtggacggca	7	5	15	14	5	0	0	0	0	0	0	2	2	1	2	3	5	1	4	3	5	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:8464858G>T	ENST00000328024.6	+	2	370	c.152G>T	c.(151-153)cGc>cTc	p.R51L	RAB11B_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Missense_Mutation_p.R51L	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	51					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						TTCGCCACCCGCAGCATCCAG	0.662													16	42					1.5739e-10	2.76884e-10	1	0	T	8464858	G	T	8464858	3	4	292	1	0	0	0	0	1	0	0	0	12974	1087	38	3	158	3	RAB11B	19	8464858	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	838708	8464858	50664125	471	52125											
MUC16	94025	broad.mit.edu	37	chr19	9062568	9062568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaagtcacaggaagaGaagcggaagggaaatcctct	17	4	14	6	1	2	2	1	0	1	2	3	8	3	5	1	3	1	0	1	3	6	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:9062568G>T	ENST00000397910.4	-	3	25081	c.24878C>A	c.(24877-24879)tCt>tAt	p.S8293Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8295	Ser-rich.|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						CACAGGAAGAGAAGCGGAAGG	0.512													16	79					1.3612e-06	2.16969e-06	1	0	T	9062568	G	T	9062568	3	4	292	1	0	0	0	0	1	0	0	0	10043	942	33	2	18973	2	MUC16	19	9062568	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	597710	9062568	50066415	472	52126											
MUC16	94025	broad.mit.edu	37	chr19	9071210	9071210	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgatgcatggcggcttcTgtgtgtgcagtgtctttgta	6	15	14	6	1	2	1	0	1	2	0	2	2	2	1	0	2	2	4	0	2	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:9071210T>C	ENST00000397910.4	-	3	16439	c.16236A>G	c.(16234-16236)acA>acG	p.T5412T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5414	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						TGGCGGCTTCTGTGTGTGCAG	0.502													93	449					0	0	0	0	C	9071210	T	C	9071210	2	2	292	1	0	0	0	0	0	0	0	1	10043	1567	55	5		5	MUC16	19	9071210	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	8642	9071210	50057773	473	52127											
TSPAN16	26526	broad.mit.edu	37	chr19	11422874	11422874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttcaccctgagtgggagCtctctgggagctgcagtgat	7	10	14	10	0	2	2	1	2	1	0	3	4	2	4	1	2	4	4	1	2	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:11422874C>A	ENST00000316737.1	+	6	813	c.663C>A	c.(661-663)agC>agA	p.S221R	TSPAN16_ENST00000590327.1_Missense_Mutation_p.S221R|TSPAN16_ENST00000592955.1_Missense_Mutation_p.S196R|CTC-510F12.4_ENST00000586356.1_RNA	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	221						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TGAGTGGGAGCTCTCTGGGAG	0.483													4	19					0.00024832	0.000373787	1	0	A	11422874	C	A	11422874	3	1	292	1	0	0	0	0	1	0	0	0	16735	796	28	4	685	4	TSPAN16	19	11422874	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2351664	11422874	47706109	474	52128											
LPPR2	64748	broad.mit.edu	37	chr19	11470311	11470311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctatgacagtacctacgCcaagccctacccagggcctg	9	7	9	16	1	0	1	0	1	0	0	0	1	0	1	5	1	5	2	5	1	5	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:11470311C>T	ENST00000251473.5	+	4	546	c.170C>T	c.(169-171)gCc>gTc	p.A57V	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.A32V|DKFZP761J1410_ENST00000586431.1_3'UTR	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					AGTACCTACGCCAAGCCCTAC	0.602													6	52					0	0	0	0	T	11470311	C	T	11470311	3	4	292	1	0	0	0	0	1	0	0	0	8989	739	26	4	176	4	LPPR2	19	11470311	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	47437	11470311	47658672	475	52129											
ZNF625	90589	broad.mit.edu	37	chr19	12256755	12256755	+	Missense_Mutation	SNP	C	C	A																															cacaatcataaggtttccccCcagtgtgagcccattcatgt																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:12256755C>A	ENST00000355738.1	-	4	627	c.278G>T	c.(277-279)gGg>gTg	p.G93V	ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Missense_Mutation_p.G93V|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Missense_Mutation_p.G159V			Q96I27	ZN625_HUMAN	zinc finger protein 625	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						AGGTTTCCCCCCAGTGTGAGC	0.428													28	97					1.16021e-09	1.99548e-09	1	0	A	12256755	C	A	12256755	3	1	292	1	0	0	0	0	1	0	0	0	18144	623	22	4	646	4	ZNF625	19	12256755	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	786444	12256755	46872228	476	52130	411	2									
ZNF625	90589	broad.mit.edu	37	chr19	12256756	12256756	+	Missense_Mutation	SNP	C	C	A																															acaatcataaggtttcccccCagtgtgagcccattcatgtg																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:12256756C>A	ENST00000355738.1	-	4	626	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W	ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Missense_Mutation_p.G93W|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Missense_Mutation_p.G159W			Q96I27	ZN625_HUMAN	zinc finger protein 625	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						GGTTTCCCCCCAGTGTGAGCC	0.428													27	95					7.38237e-10	1.2763e-09	1	0	A	12256756	C	A	12256756	3	1	292	1	0	0	0	0	1	0	0	0	18144	594	21	4	647	4	ZNF625	19	12256756	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1	12256756	46872227	477	52131	411	2									
TECR	9524	broad.mit.edu	37	chr19	14674476	14674476	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctccccgcagatccgcAgtggtaccccgcccgccagt	5	8	10	18	4	1	1	0	0	1	1	3	1	2	1	7	1	1	4	7	1	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:14674476A>T	ENST00000436007.2	+	5	294	c.170A>T	c.(169-171)cAg>cTg	p.Q57L	TECR_ENST00000215567.5_Missense_Mutation_p.Q42L|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596164.1_3'UTR			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	42					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						GCAGATCCGCAGTGGTACCCC	0.701													13	41					0	0	0	0	T	14674476	A	T	14674476	3	4	292	1	0	0	0	0	1	0	0	0	15839	188	7	5	139	5	TECR	19	14674476	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	2417720	14674476	44454507	478	52132											
EMR2	30817	broad.mit.edu	37	chr19	14862462	14862462	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagagatagtgcaaggtacCggcgatgatggagcacagca	13	6	15	7	2	0	2	0	1	0	1	0	5	0	3	1	3	4	5	1	3	4	3	rs143659792	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:14862462C>G	ENST00000315576.3	-	16	2261	c.1810G>C	c.(1810-1812)Ggt>Cgt	p.G604R	EMR2_ENST00000595839.1_Missense_Mutation_p.G462R|EMR2_ENST00000596991.2_Missense_Mutation_p.G593R|EMR2_ENST00000392967.2_Missense_Mutation_p.G593R|EMR2_ENST00000392965.3_Missense_Mutation_p.G546R|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000594076.1_Missense_Mutation_p.G511R|EMR2_ENST00000594294.1_Missense_Mutation_p.G555R|EMR2_ENST00000601345.1_Missense_Mutation_p.G593R|EMR2_ENST00000353876.1_Missense_Mutation_p.G511R|EMR2_ENST00000353005.1_Missense_Mutation_p.G462R|EMR2_ENST00000346057.1_Missense_Mutation_p.G555R	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	604					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGCAAGGTACCGGCGATGATG	0.567													25	43					0	0	0	0	G	14862462	C	G	14862462	3	3	292	1	0	0	0	0	1	0	0	0	5143	652	23	3	685	3	EMR2	19	14862462	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	187986	14862462	44266521	479	52133											
SLC5A5	6528	broad.mit.edu	37	chr19	18004623	18004623	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggagctggagggggcTggctcttggaccccctgtgt	6	8	17	10	0	1	1	0	0	1	1	1	4	1	4	2	6	1	3	2	6	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:18004623T>A	ENST00000222248.3	+	15	2216	c.1869T>A	c.(1867-1869)gcT>gcA	p.A623A		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	623					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGAGGGGGCTGGCTCTTGGA	0.602													5	10					0	0	0	0	A	18004623	T	A	18004623	2	1	292	1	0	0	0	0	0	0	0	1	14756	1567	55	5		5	SLC5A5	19	18004623	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	3142161	18004623	41124360	480	52134											
IL12RB1	3594	broad.mit.edu	37	chr19	18179338	18179338	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactccagctgtaggttgcTggaaggataagcaaaggcca	12	7	13	9	1	0	0	0	0	0	0	1	3	1	2	2	4	3	5	2	4	4	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:18179338T>A	ENST00000600835.1	-	12	1493		c.e12-2		IL12RB1_ENST00000593993.1_Splice_Site|IL12RB1_ENST00000430026.2_Splice_Site			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1						cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TGTAGGTTGCTGGAAGGATAA	0.537													33	197					0	0	0	0	A	18179338	T	A	18179338	5	1	292	1	0	0	0	0	0	0	1	0	7679	1594	55	5	828	5	IL12RB1	19	18179338	Splice_Site	SNP	T	TCGA-CV-7245-01A-11D-2012-08	174715	18179338	40949645	481	52135											
HOMER3	9454	broad.mit.edu	37	chr19	19042356	19042356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcttccagctgttccaGcgactggccctggcccagcc	6	7	11	17	1	0	1	0	0	0	1	2	2	2	1	5	2	4	3	5	2	0	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:19042356G>T	ENST00000539827.1	-	7	1421	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	HOMER3_ENST00000594439.1_Missense_Mutation_p.L221M|HOMER3_ENST00000433218.2_Missense_Mutation_p.L257M|HOMER3_ENST00000221222.11_Missense_Mutation_p.L257M|HOMER3_ENST00000355887.6_Missense_Mutation_p.L257M|AC002985.3_ENST00000596918.1_3'UTR|HOMER3_ENST00000392351.3_Missense_Mutation_p.L257M|HOMER3_ENST00000594794.1_Missense_Mutation_p.L48M|HOMER3_ENST00000542541.2_Missense_Mutation_p.L257M			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	257					metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			AGCTGTTCCAGCGACTGGCCC	0.637													43	91					7.53189e-24	1.5324e-23	1	0	T	19042356	G	T	19042356	3	4	292	1	0	0	0	0	1	0	0	0	7330	962	34	4	328	4	HOMER3	19	19042356	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	863018	19042356	40086627	482	52136											
ZNF737	100129842	broad.mit.edu	37	chr19	20727933	20727933	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactatgaattatcttgTgtgtagtaagggatgagaag	12	13	11	5	0	1	2	0	2	1	1	2	4	2	3	1	1	0	2	1	1	6	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:20727933T>A	ENST00000427401.4	-	4	1170	c.1076A>T	c.(1075-1077)cAc>cTc	p.H359L		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	359					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AATTATCTTGTGTGTAGTAAG	0.388													20	73					0	0	0	0	A	20727933	T	A	20727933	3	1	292	1	0	0	0	0	1	0	0	0	18220	1696	59	5	538	5	ZNF737	19	20727933	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	1685577	20727933	38401050	483	52137											
ZNF208	7757	broad.mit.edu	37	chr19	22154889	22154889	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaaggattgagaatgtacTaaagcctttgccacattctt	13	13	8	7	0	1	1	0	1	1	1	1	3	1	2	2	1	3	2	2	1	5	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:22154889T>C	ENST00000397126.4	-	4	3095	c.2947A>G	c.(2947-2949)Agt>Ggt	p.S983G	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAGAATGTACTAAAGCCTTTG	0.358													30	55					0	0	0	0	C	22154889	T	C	22154889	3	2	292	1	0	0	0	0	1	0	0	0	17861	1522	53	5	899	5	ZNF208	19	22154889	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	1426956	22154889	36974094	484	52138											
ZNF536	9745	broad.mit.edu	37	chr19	30935396	30935396	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgttgtgcgacttcgcggcTtcgcaggaggaggagctcat	7	9	15	10	5	1	0	1	0	0	0	3	4	1	3	0	4	2	4	0	4	0	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:30935396T>A	ENST00000355537.3	+	2	1074	c.927T>A	c.(925-927)gcT>gcA	p.A309A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACTTCGCGGCTTCGCAGGAGG	0.642													84	116					0	0	0	0	A	30935396	T	A	30935396	2	1	292	1	0	0	0	0	0	0	0	1	18069	1596	56	5		5	ZNF536	19	30935396	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	8780507	30935396	28193587	485	52139											
KIRREL2	84063	broad.mit.edu	37	chr19	36357267	36357267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctcaccacaccccaccCtcgagctttcaccagctaca	10	8	3	20	1	2	0	2	0	1	0	4	1	2	0	5	0	3	2	5	0	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:36357267C>T	ENST00000360202.5	+	15	2198	c.2000C>T	c.(1999-2001)cCt>cTt	p.P667L	KIRREL2_ENST00000592409.1_Missense_Mutation_p.P632L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.P647L|KIRREL2_ENST00000347900.6_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	667	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACACCCCACCCTCGAGCTTTC	0.612													77	155					0	0	0	0	T	36357267	C	T	36357267	3	4	292	1	0	0	0	0	1	0	0	0	8377	681	24	4	2058	4	KIRREL2	19	36357267	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	5421871	36357267	22771716	486	52140											
ZNF222	7673	broad.mit.edu	37	chr19	44536610	44536610	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagccattcaaatgtgaaatAtgtggtaagagcttctgtct	13	13	9	6	0	3	2	1	1	2	1	3	2	3	2	1	1	2	2	1	1	5	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:44536610A>G	ENST00000187879.8	+	4	945	c.783A>G	c.(781-783)atA>atG	p.I261M	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.I301M	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AATGTGAAATATGTGGTAAGA	0.393													39	99					0	0	0	0	G	44536610	A	G	44536610	3	3	292	1	0	0	0	0	1	0	0	0	17871	439	16	5	936	5	ZNF222	19	44536610	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	8179343	44536610	14592373	487	52141											
LIG1	3978	broad.mit.edu	37	chr19	48620966	48620966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacctcccacacagcgctggGgtccagccagtggtcgggaa	8	5	13	15	2	0	0	0	0	0	0	3	1	2	1	4	4	2	1	4	4	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:48620966G>A	ENST00000263274.7	-	26	2931	c.2512C>T	c.(2512-2514)Ccc>Tcc	p.P838S	LIG1_ENST00000536218.1_Missense_Mutation_p.P770S|LIG1_ENST00000427526.2_Missense_Mutation_p.P807S	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	838					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ACAGCGCTGGGGTCCAGCCAG	0.662								Nucleotide excision repair (NER)					12	26					0	0	0	0	A	48620966	G	A	48620966	3	1	292	1	0	0	0	0	1	0	0	0	8835	1232	43	4	259	4	LIG1	19	48620966	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	4084356	48620966	10508017	488	52142											
HRC	3270	broad.mit.edu	37	chr19	49658346	49658346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctctgctgatgcctcctcgGagagcccggcgactccagtg	5	8	13	15	3	1	2	0	1	1	1	4	4	3	2	4	2	3	2	4	2	0	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:49658346G>T	ENST00000252825.4	-	1	335	c.149C>A	c.(148-150)tCc>tAc	p.S50Y	HRC_ENST00000595625.1_Missense_Mutation_p.S50Y	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	50					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGCCTCCTCGGAGAGCCCGGC	0.602													19	93					2.32416e-17	4.54391e-17	1	0	T	49658346	G	T	49658346	3	4	292	1	0	0	0	0	1	0	0	0	7402	1174	41	2	1974	2	HRC	19	49658346	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1037380	49658346	9470637	489	52143											
LRRC4B	94030	broad.mit.edu	37	chr19	51022385	51022385	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcctccgagatgtattcCagccgcttgagctcgcccag	6	8	11	16	4	0	2	0	1	0	1	3	3	2	2	6	0	2	3	6	0	1	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:51022385C>A	ENST00000599957.1	-	3	782	c.585G>T	c.(583-585)ctG>ctT	p.L195L	LRRC4B_ENST00000389201.3_Silent_p.L195L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	195						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGATGTATTCCAGCCGCTTGA	0.652													9	28					2.17888e-05	3.37625e-05	1	0	A	51022385	C	A	51022385	2	1	292	1	0	0	0	0	0	0	0	1	9071	581	21	4		4	LRRC4B	19	51022385	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1364039	51022385	8106598	490	52144											
ZNF616	90317	broad.mit.edu	37	chr19	52619407	52619407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgtacagtgaggtttgagCtccgtttaaaggttttgcca	9	14	12	6	1	0	2	0	2	0	0	1	3	1	2	2	2	3	5	2	2	3	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:52619407C>A	ENST00000600228.1	-	4	1271	c.1010G>T	c.(1009-1011)aGc>aTc	p.S337I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GAGGTTTGAGCTCCGTTTAAA	0.398													32	120					6.50621e-10	1.12872e-09	1	0	A	52619407	C	A	52619407	3	1	292	1	0	0	0	0	1	0	0	0	18136	797	28	4	1339	4	ZNF616	19	52619407	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1597022	52619407	6509576	491	52145											
VN1R2	317701	broad.mit.edu	37	chr19	53761833	53761833	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcatctctttgtcttGtgtctttatttctacactct	4	24	3	10	0	7	0	1	0	6	0	8	0	7	0	0	0	1	0	0	0	2	8			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:53761833G>C	ENST00000341702.3	+	1	289	c.205G>C	c.(205-207)Gtg>Ctg	p.V69L		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	69					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		tctttgtcttgtgtctttatt	0.512													4	7					0	0	0	0	C	53761833	G	C	53761833	3	2	292	1	0	0	0	0	1	0	0	0	17275	1377	48	4	207	4	VN1R2	19	53761833	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1142426	53761833	5367150	492	52146											
KIR3DL2	3812	broad.mit.edu	37	chr19	55377864	55377864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcctgcgggggacagaaCagtgaataggcaggtaggtc	12	5	17	7	1	0	3	0	1	0	2	1	4	0	4	1	5	3	2	1	5	4	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:55377864C>A	ENST00000326321.3	+	8	1178	c.1145C>A	c.(1144-1146)aCa>aAa	p.T382K	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.T382K|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.T365K	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	382					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGGGACAGAACAGTGAATAGG	0.532													25	123					1.85244e-09	3.18061e-09	1	0	A	55377864	C	A	55377864	3	1	292	1	0	0	0	0	1	0	0	0	8373	478	17	4	1175	4	KIR3DL2	19	55377864	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1616031	55377864	3751119	493	52147											
NLRP11	204801	broad.mit.edu	37	chr19	56300307	56300307	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagaacagaggcaagagaTcgacagcaggcactggttaa	16	5	13	7	1	0	3	0	0	0	3	1	5	0	3	0	3	2	5	0	3	4	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:56300307T>A	ENST00000443188.1	-	11	3431	c.2721A>T	c.(2719-2721)cgA>cgT	p.R907R	NLRP11_ENST00000592953.1_Silent_p.R808R|NLRP11_ENST00000589824.2_Silent_p.R853R|NLRP11_ENST00000589093.1_Silent_p.R907R|NLRP11_ENST00000360133.3_Silent_p.R853R	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	907							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)		AGGCAAGAGATCGACAGCAGG	0.458													14	36					0	0	0	0	A	56300307	T	A	56300307	2	1	292	1	0	0	0	0	0	0	0	1	10543	1422	50	5		5	NLRP11	19	56300307	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08	922443	56300307	2828676	494	52148											
ZFP28	140612	broad.mit.edu	37	chr19	57066324	57066324	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacatcaaagactgcacActggccaaagaccttatgaa	16	7	6	12	0	2	3	2	1	0	2	2	3	2	3	2	1	2	1	2	1	5	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:57066324A>G	ENST00000301318.3	+	8	2241	c.2170A>G	c.(2170-2172)Act>Gct	p.T724A	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	724					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAGACTGCACACTGGCCAAAG	0.413													19	59					0	0	0	0	G	57066324	A	G	57066324	3	3	292	1	0	0	0	0	1	0	0	0	17737	159	6	5	2200	5	ZFP28	19	57066324	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	766017	57066324	2062659	495	52149											
ZNF530	348327	broad.mit.edu	37	chr19	58118332	58118332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgcaaaactgacctcattcGacaccagacagttcacactg	13	9	6	13	1	2	2	2	1	0	1	3	3	2	2	2	0	2	2	2	0	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:58118332G>C	ENST00000332854.6	+	3	1659	c.1439G>C	c.(1438-1440)cGa>cCa	p.R480P	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACCTCATTCGACACCAGACA	0.438													35	33					0	0	0	0	C	58118332	G	C	58118332	3	2	292	1	0	0	0	0	1	0	0	0	18066	1058	37	3	1449	3	ZNF530	19	58118332	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	1052008	58118332	1010651	496	52150											
ZNF587	84914	broad.mit.edu	37	chr19	58370975	58370975	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggcaacctcgttcaccatCagcgaggtcatactggagaa	12	7	11	11	2	3	1	3	0	0	1	4	3	3	1	2	3	3	2	2	3	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:58370975C>T	ENST00000339656.5	+	3	1377	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000419854.1_Nonsense_Mutation_p.Q356*|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Nonsense_Mutation_p.Q398*|ZNF814_ENST00000597342.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CGTTCACCATCAGCGAGGTCA	0.473													66	97					0	0	0	0	T	58370975	C	T	58370975	4	4	292	1	0	0	0	0	0	1	0	0	18115	827	29	2	1205	2	ZNF587	19	58370975	Nonsense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	252643	58370975	758008	497	52151											
SIGLEC1	6614	broad.mit.edu	37	chr20	3675353	3675353	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctaggctcgtggtggcTgagcctggggcctgggcttg	3	9	19	10	1	0	1	0	1	0	0	1	1	0	1	2	6	2	5	2	6	1	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:3675353T>A	ENST00000344754.4	-	11	2900	c.2901A>T	c.(2899-2901)tcA>tcT	p.S967S	SIGLEC1_ENST00000202578.4_Silent_p.S967S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	967	Ig-like C2-type 9.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCGTGGTGGCTGAGCCTGGGG	0.622													15	60					0	0	0	0	A	3675353	T	A	3675353	2	1	292	1	0	0	0	0	0	0	0	1	14393	1567	55	5		5	SIGLEC1	20	3675353	Silent	SNP	T	TCGA-CV-7245-01A-11D-2012-08		3675353	59350167	498	52152											
SIGLEC1	6614	broad.mit.edu	37	chr20	3677790	3677790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagcctcagtcaggatgcgGcaggcgtaaagggcagcatc	10	5	14	12	2	2	0	2	0	0	0	3	1	2	1	2	4	3	4	2	4	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:3677790G>A	ENST00000344754.4	-	9	2321	c.2322C>T	c.(2320-2322)tgC>tgT	p.C774C	SIGLEC1_ENST00000202578.4_Silent_p.C774C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	774	Ig-like C2-type 7.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCAGGATGCGGCAGGCGTAAA	0.637													23	62					0	0	0	0	A	3677790	G	A	3677790	2	1	292	1	0	0	0	0	0	0	0	1	14393	1195	42	4		4	SIGLEC1	20	3677790	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2437	3677790	59347730	499	52153											
LRRN4	164312	broad.mit.edu	37	chr20	6021815	6021815	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acggtgctggcgagcaacagGccgctggcggcgcacagccc	7	3	16	15	5	0	0	0	0	0	0	0	1	0	0	2	5	4	4	2	5	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:6021815G>T	ENST00000378858.4	-	5	2300	c.2076C>A	c.(2074-2076)ggC>ggA	p.G692G		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	692						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CGAGCAACAGGCCGCTGGCGG	0.697													4	17					2.56e-06	4.04828e-06	1	0	T	6021815	G	T	6021815	2	4	292	1	0	0	0	0	0	0	0	1	9101	1190	42	4		4	LRRN4	20	6021815	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2344025	6021815	57003705	500	52154											
JAG1	182	broad.mit.edu	37	chr20	10653648	10653648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaactgacccgaggcccCacacacctgccggcgaggga	9	3	12	17	4	0	1	0	1	0	0	1	5	0	2	5	3	2	0	5	3	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:10653648C>A	ENST00000254958.5	-	2	603	c.88G>T	c.(88-90)Ggg>Tgg	p.G30W	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	30					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CCCGAGGCCCCACACACCTGC	0.647									Alagille Syndrome				9	61					3.86212e-05	5.91129e-05	1	0	A	10653648	C	A	10653648	3	1	292	1	0	0	0	0	1	0	0	0	7987	594	21	4	3668	4	JAG1	20	10653648	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	4631833	10653648	52371872	501	52155											
SEL1L2	80343	broad.mit.edu	37	chr20	13840045	13840045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcccatagccatagtaatGgtaatctccaatttttactc	12	14	5	10	0	1	0	0	0	1	0	4	0	2	0	3	1	2	2	3	1	6	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:13840045G>T	ENST00000284951.5	-	18	1755	c.1681C>A	c.(1681-1683)Cat>Aat	p.H561N	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	561						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CCATAGTAATGGTAATCTCCA	0.368													6	39					8.12818e-05	0.000123652	1	0	T	13840045	G	T	13840045	3	4	292	1	0	0	0	0	1	0	0	0	14098	1348	47	4	397	4	SEL1L2	20	13840045	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3186397	13840045	49185475	502	52156											
SEL1L2	80343	broad.mit.edu	37	chr20	13868451	13868451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtaataacttagggcaaCttcacaattctgtagaacat	14	13	6	8	0	2	1	1	0	1	1	2	1	2	1	0	1	3	3	0	1	7	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:13868451C>T	ENST00000284951.5	-	8	783	c.709G>A	c.(709-711)Gtt>Att	p.V237I	SEL1L2_ENST00000378072.5_Missense_Mutation_p.V237I|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	237						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTTAGGGCAACTTCACAATTC	0.308													24	115					0	0	0	0	T	13868451	C	T	13868451	3	4	292	1	0	0	0	0	1	0	0	0	14098	565	20	4	1409	4	SEL1L2	20	13868451	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	28406	13868451	49157069	503	52157											
BFSP1	631	broad.mit.edu	37	chr20	17492691	17492691	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgctgcaggatgctgataTaggtctgaacttccagaaga	11	11	11	8	0	2	4	0	2	2	2	3	5	3	5	1	2	4	3	1	2	4	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:17492691T>C	ENST00000377873.3	-	4	596	c.557A>G	c.(556-558)tAt>tGt	p.Y186C	BFSP1_ENST00000473415.1_5'UTR|BFSP1_ENST00000544874.1_Missense_Mutation_p.Y47C|BFSP1_ENST00000536626.1_Missense_Mutation_p.Y47C|BFSP1_ENST00000377868.2_Missense_Mutation_p.Y61C	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	186	Linker 12.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GATGCTGATATAGGTCTGAAC	0.463													34	41					0	0	0	0	C	17492691	T	C	17492691	3	2	292	1	0	0	0	0	1	0	0	0	1420	1406	49	5	1460	5	BFSP1	20	17492691	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	3624240	17492691	45532829	504	52158											
ZNF133	7692	broad.mit.edu	37	chr20	18296949	18296949	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaacctcatcagacaccAgaggacgcactcaggcgaga	14	4	9	14	2	3	3	3	0	0	3	4	5	4	4	3	2	1	1	3	2	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:18296949A>G	ENST00000377671.3	+	7	2010	c.1451A>G	c.(1450-1452)cAg>cGg	p.Q484R	ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000316358.4_Missense_Mutation_p.Q485R|ZNF133_ENST00000402618.2_Missense_Mutation_p.Q422R|ZNF133_ENST00000401790.1_Missense_Mutation_p.Q485R|ZNF133_ENST00000538547.1_Missense_Mutation_p.Q390R|ZNF133_ENST00000535822.1_Missense_Mutation_p.Q390R|ZNF133_ENST00000396026.3_Missense_Mutation_p.Q488R	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	485						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						ATCAGACACCAGAGGACGCAC	0.582													21	55					0	0	0	0	G	18296949	A	G	18296949	3	3	292	1	0	0	0	0	1	0	0	0	17818	188	7	5	1461	5	ZNF133	20	18296949	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	804258	18296949	44728571	505	52159											
ZNF133	7692	broad.mit.edu	37	chr20	18297420	18297420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcagcccgaccctgagcCgtgtgcagggcaaccttcgg	7	6	14	14	3	0	1	0	1	0	0	1	2	0	1	4	2	5	3	4	2	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:18297420C>T	ENST00000377671.3	+	7	2481	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000316358.4_Missense_Mutation_p.P642L|ZNF133_ENST00000402618.2_Missense_Mutation_p.P579L|ZNF133_ENST00000401790.1_Missense_Mutation_p.P642L|ZNF133_ENST00000538547.1_Missense_Mutation_p.P547L|ZNF133_ENST00000535822.1_Missense_Mutation_p.P547L|ZNF133_ENST00000396026.3_Missense_Mutation_p.P645L	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	642						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GACCCTGAGCCGTGTGCAGGG	0.537													23	89					0	0	0	0	T	18297420	C	T	18297420	3	4	292	1	0	0	0	0	1	0	0	0	17818	652	23	1	1932	1	ZNF133	20	18297420	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	471	18297420	44728100	506	52160											
INSM1	3642	broad.mit.edu	37	chr20	20350324	20350325	+	Frame_Shift_Ins	INS	-	-	A																															ccgcccaggtgttcccctgcINSaagtactgcccggccacctt																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:20350324_20350325insA	ENST00000310227.1	+	1	1560_1561	c.1413_1414insA	c.(1411-1416)tgagtafs	p.V472fs		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	472					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		TGTTCCCCTGCAAGTACTGCCC	0.658													10	51	---	---	---	---					A	20350325	-	A	20350324	7	5	292	1	0	1	1	0	0	0	0	0	7824	718	25	0	1415	0	INSM1	20	20350324	Frame_Shift_Ins	INS	-	TCGA-CV-7245-01A-11D-2012-08	2052904	20350324	42675196	507	52161											
VSX1	30813	broad.mit.edu	37	chr20	25057164	25057164	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctggcttccttatcatCcccatggattttttatgcat	6	18	5	12	0	1	0	1	0	0	0	4	1	4	1	4	2	1	2	4	2	2	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:25057164C>A	ENST00000376709.4	-	5	1094	c.831G>T	c.(829-831)ggG>ggT	p.G277G	VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	277	CVC.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TCCTTATCATCCCCATGGATT	0.353													25	109					3.01185e-09	5.14481e-09	1	0	A	25057164	C	A	25057164	2	1	292	1	0	0	0	0	0	0	0	1	17327	842	30	2		2	VSX1	20	25057164	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	4706840	25057164	37968356	508	52162											
REM1	28954	broad.mit.edu	37	chr20	30065673	30065673	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacggtggatggagaagacaCcacactggtggtcgtggaca	11	6	15	9	2	0	2	0	0	0	2	1	5	0	4	1	6	0	0	1	6	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:30065673C>A	ENST00000201979.2	+	3	676	c.383C>A	c.(382-384)aCc>aAc	p.T128N		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	128					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGAGAAGACACCACACTGGTG	0.562													9	24					0.000673444	0.00100166	1	0	A	30065673	C	A	30065673	3	1	292	1	0	0	0	0	1	0	0	0	13304	507	18	4	389	4	REM1	20	30065673	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	5008509	30065673	32959847	509	52163											
ITCH	83737	broad.mit.edu	37	chr20	33033227	33033227	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacagcgtagtcagcttcaAggagcaatgcagcagtttaa	13	9	10	9	1	2	0	2	0	0	0	2	1	2	1	0	1	6	6	0	1	5	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:33033227A>T	ENST00000374864.4	+	11	1314	c.1101A>T	c.(1099-1101)caA>caT	p.Q367H	ITCH_ENST00000535650.1_Missense_Mutation_p.Q257H|ITCH_ENST00000262650.6_Missense_Mutation_p.Q408H|ITCH_ENST00000483727.1_3'UTR	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	408	WW 2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GTCAGCTTCAAGGAGCAATGC	0.433													8	55					0	0	0	0	T	33033227	A	T	33033227	3	4	292	1	0	0	0	0	1	0	0	0	7921	69	3	5	1135	5	ITCH	20	33033227	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	2967554	33033227	29992293	510	52164											
CHD6	84181	broad.mit.edu	37	chr20	40101970	40101970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctagtggttacctgcaagtCattttgtgggttccagtcag	7	14	11	9	0	2	0	2	0	0	0	3	0	3	0	3	2	2	3	3	2	3	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:40101970C>T	ENST00000373233.3	-	17	2833	c.2656G>A	c.(2656-2658)Gac>Aac	p.D886N	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	886	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ACCTGCAAGTCATTTTGTGGG	0.498													6	52					0	0	0	0	T	40101970	C	T	40101970	3	4	292	1	0	0	0	0	1	0	0	0	3358	826	29	2	5575	2	CHD6	20	40101970	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	7068743	40101970	22923550	511	52165											
RIMS4	140730	broad.mit.edu	37	chr20	43399968	43399968	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaatggactcgtggctggCctggcgcagtgtccggctgg	4	9	16	12	3	1	0	1	0	0	0	3	1	2	1	2	6	0	3	2	6	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:43399968C>G	ENST00000372851.3	-	2	250	c.184G>C	c.(184-186)Gcc>Ccc	p.A62P	RIMS4_ENST00000541604.2_Missense_Mutation_p.A63P	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	62					exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TCGTGGCTGGCCTGGCGCAGT	0.627													15	89					0	0	0	0	G	43399968	C	G	43399968	3	3	292	1	0	0	0	0	1	0	0	0	13455	739	26	4	645	4	RIMS4	20	43399968	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3297998	43399968	19625552	512	52166											
PREX1	57580	broad.mit.edu	37	chr20	47246080	47246080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaggccggcgcccacactcCcagcagcaccaggctttggg	7	5	13	16	2	0	1	0	1	0	0	1	1	1	1	4	4	2	3	4	4	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:47246080C>T	ENST00000371941.3	-	37	4695	c.4673G>A	c.(4672-4674)gGg>gAg	p.G1558E	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1558					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCACACTCCCAGCAGCACC	0.622													26	108					0	0	0	0	T	47246080	C	T	47246080	3	4	292	1	0	0	0	0	1	0	0	0	12556	623	22	4	322	4	PREX1	20	47246080	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3846112	47246080	15779440	513	52167											
ADNP	23394	broad.mit.edu	37	chr20	49508160	49508160	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaacttttccataggaacTattcttccatttcaactgct	10	17	3	11	0	3	0	2	0	1	0	5	1	5	1	2	1	4	1	2	1	5	8			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:49508160T>A	ENST00000396029.3	-	5	3658	c.3091A>T	c.(3091-3093)Agt>Tgt	p.S1031C	ADNP_ENST00000396032.3_Missense_Mutation_p.S1031C|ADNP_ENST00000349014.3_Missense_Mutation_p.S1031C|ADNP_ENST00000371602.4_Missense_Mutation_p.S1031C	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1031						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CCATAGGAACTATTCTTCCAT	0.458													31	120					0	0	0	0	A	49508160	T	A	49508160	3	1	292	1	0	0	0	0	1	0	0	0	323	1522	53	5	221	5	ADNP	20	49508160	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	2262080	49508160	13517360	514	52168											
ZNF831	128611	broad.mit.edu	37	chr20	57829617	57829617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggtaggaaacgtcaggtatCtggattaatcactcggaaag	13	9	12	7	3	3	0	2	0	1	0	4	3	3	3	0	5	1	2	0	5	5	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:57829617C>G	ENST00000371030.2	+	5	4853	c.4853C>G	c.(4852-4854)tCt>tGt	p.S1618C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1618						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGTCAGGTATCTGGATTAATC	0.488													21	98					0	0	0	0	G	57829617	C	G	57829617	3	3	292	1	0	0	0	0	1	0	0	0	18278	913	32	2	4871	2	ZNF831	20	57829617	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	8321457	57829617	5195903	515	52169											
CDH4	1002	broad.mit.edu	37	chr20	60511804	60511804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgacccccagggactccgcGctgctgacaacgaccccacg	8	4	11	18	4	0	2	0	2	0	0	1	4	1	3	5	1	2	2	5	1	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:60511804G>T	ENST00000360469.5	+	16	2642	c.2554G>T	c.(2554-2556)Gct>Tct	p.A852S	CDH4_ENST00000543233.1_Missense_Mutation_p.A778S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	852					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGACTCCGCGCTGCTGACAA	0.642													8	43					5.18039e-06	8.14062e-06	1	0	T	60511804	G	T	60511804	3	4	292	1	0	0	0	0	1	0	0	0	3141	1087	38	3	2616	3	CDH4	20	60511804	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2682187	60511804	2513716	516	52170											
TAF4	6874	broad.mit.edu	37	chr20	60574130	60574130	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaacttgagctgtgccCggacgtcactcgcctgctca	10	8	9	14	3	2	1	2	1	0	0	3	2	2	2	2	1	4	2	2	1	3	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:60574130C>A	ENST00000252996.3	-	12	2821	c.2822G>T	c.(2821-2823)cGg>cTg	p.R941L		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	941					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GAGCTGTGCCCGGACGTCACT	0.483													108	467					2.21197e-46	4.70102e-46	1	0	A	60574130	C	A	60574130	3	1	292	1	0	0	0	0	1	0	0	0	15617	652	23	3	451	3	TAF4	20	60574130	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	62326	60574130	2451390	517	52171											
HRH3	11255	broad.mit.edu	37	chr20	60791520	60791520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggagccgcccccaccgcCacccccgagggtcgcctccc	5	2	10	24	5	0	0	0	0	0	0	2	2	1	1	9	2	1	0	9	2	0	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:60791520C>T	ENST00000340177.5	-	3	1164	c.880G>A	c.(880-882)Ggc>Agc	p.G294S	HRH3_ENST00000317393.6_Missense_Mutation_p.G294S	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	294	Poly-Gly.				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CCCCCACCGCCACCCCCGAGG	0.731													3	7					0	0	0	0	T	60791520	C	T	60791520	3	4	292	1	0	0	0	0	1	0	0	0	7407	594	21	4	461	4	HRH3	20	60791520	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	217390	60791520	2234000	518	52172											
BAGE2	85319	broad.mit.edu	37	chr21	11058282	11058282	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtacatttctcttcacaGcatttgatagtggctccaaa	10	14	8	9	0	2	1	1	1	1	0	4	1	3	1	1	2	2	3	1	2	3	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:11058282G>A	ENST00000470054.1	-	0	365									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTCTTCACAGCATTTGATAG	0.403													5	140					0	0	0	0	A	11058282	G	A	11058282	1	1	292	0	1	0	0	0	0	0	0	0	1296	971	34	4		4	BAGE2	21	11058282	RNA	SNP	G	TCGA-CV-7245-01A-11D-2012-08		11058282	37071613	519	52173											
GART	2618	broad.mit.edu	37	chr21	34878379	34878379	+	Silent	SNP	G	G	T																															tgcagagctatttggttcccGagtactgtctataagtgctt																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:34878379G>T	ENST00000381831.3	-	19	2748	c.2485C>A	c.(2485-2487)Cgg>Agg	p.R829R	GART_ENST00000543717.1_Silent_p.R381R|GART_ENST00000381815.4_Silent_p.R829R|GART_ENST00000381839.3_Silent_p.R829R	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	829	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TTTGGTTCCCGAGTACTGTCT	0.423													45	49					1.41504e-22	2.84428e-22	1	0	T	34878379	G	T	34878379	2	4	292	1	0	0	0	0	0	0	0	1	6292	1057	37	3		3	GART	21	34878379	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	23820097	34878379	13251516	520	52174	412	2									
GART	2618	broad.mit.edu	37	chr21	34878381	34878381	+	Missense_Mutation	SNP	G	G	A																															cagagctatttggttcccgaGtactgtctataagtgcttgc																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:34878381G>A	ENST00000381831.3	-	19	2746	c.2483C>T	c.(2482-2484)aCt>aTt	p.T828I	GART_ENST00000543717.1_Missense_Mutation_p.T380I|GART_ENST00000381815.4_Missense_Mutation_p.T828I|GART_ENST00000381839.3_Missense_Mutation_p.T828I	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	828	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGGTTCCCGAGTACTGTCTAT	0.423													46	50					0	0	0	0	A	34878381	G	A	34878381	3	1	292	1	0	0	0	0	1	0	0	0	6292	1029	36	4	565	4	GART	21	34878381	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	2	34878381	13251514	521	52175	412	2									
DOPEY2	9980	broad.mit.edu	37	chr21	37652588	37652588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttaatatccagttggaAgtccattattgaccatcttt	10	18	5	8	0	2	1	0	1	2	0	4	2	4	2	3	1	0	1	3	1	4	8			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:37652588A>G	ENST00000399151.3	+	31	6060	c.5975A>G	c.(5974-5976)aAg>aGg	p.K1992R		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1992					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCAGTTGGAAGTCCATTATT	0.289													8	27					0	0	0	0	G	37652588	A	G	37652588	3	3	292	1	0	0	0	0	1	0	0	0	4744	72	3	5	6093	5	DOPEY2	21	37652588	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	2774207	37652588	10477307	522	52176											
KCNJ15	3772	broad.mit.edu	37	chr21	39672100	39672100	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatatcccagaggaaatctActggggttttgagtttgtgc	9	15	11	6	0	1	2	0	1	1	1	2	3	2	3	1	3	2	2	1	3	4	6	rs143222338	by1000genomes	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:39672100A>T	ENST00000398930.1	+	4	1271	c.917A>T	c.(916-918)tAc>tTc	p.Y306F	KCNJ15_ENST00000398938.2_Missense_Mutation_p.Y306F|KCNJ15_ENST00000398934.1_Missense_Mutation_p.Y306F|KCNJ15_ENST00000398932.1_Missense_Mutation_p.Y306F|KCNJ15_ENST00000328656.3_Missense_Mutation_p.Y306F			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	306					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GAGGAAATCTACTGGGGTTTT	0.468													23	13					0	0	0	0	T	39672100	A	T	39672100	3	4	292	1	0	0	0	0	1	0	0	0	8102	391	14	5	919	5	KCNJ15	21	39672100	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	2019512	39672100	8457795	523	52177											
BRWD1	54014	broad.mit.edu	37	chr21	40578121	40578121	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtttttcattgaattttTgaccaattttaaaatcagaa	15	17	5	4	0	2	3	2	2	0	1	2	4	2	3	1	0	0	1	1	0	6	7			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:40578121T>C	ENST00000342449.3	-	37	4355	c.4277A>G	c.(4276-4278)cAa>cGa	p.Q1426R	BRWD1_ENST00000333229.2_Missense_Mutation_p.Q1426R|BRWD1_ENST00000380800.3_Missense_Mutation_p.Q1426R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTGAATTTTTGACCAATTTT	0.318													62	30					0	0	0	0	C	40578121	T	C	40578121	3	2	292	1	0	0	0	0	1	0	0	0	1533	1812	63	5	2948	5	BRWD1	21	40578121	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	906021	40578121	7551774	524	52178											
IGSF5	150084	broad.mit.edu	37	chr21	41142930	41142930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtctaccctcacactggaCccggctcccggatatttcct	6	12	7	16	2	2	0	1	0	1	0	4	2	4	2	4	3	1	1	4	3	2	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:41142930C>A	ENST00000380588.4	+	4	609	c.506C>A	c.(505-507)aCc>aAc	p.T169N	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	169	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TCACACTGGACCCGGCTCCCG	0.483													31	20					3.99451e-17	7.74904e-17	1	0	A	41142930	C	A	41142930	3	1	292	1	0	0	0	0	1	0	0	0	7655	507	18	4	520	4	IGSF5	21	41142930	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	564809	41142930	6986965	525	52179											
CRYBB3	1417	broad.mit.edu	37	chr22	25601255	25601255	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcaagatggagatagtGgatgatgacgtgcccagcct	10	7	15	9	2	0	4	0	2	0	2	0	6	0	5	3	3	2	1	3	3	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:25601255G>A	ENST00000215855.2	+	5	476	c.396G>A	c.(394-396)gtG>gtA	p.V132V	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	132	Beta/gamma crystallin 'Greek key' 3.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						TGGAGATAGTGGATGATGACG	0.582													18	37					0	0	0	0	A	25601255	G	A	25601255	2	1	292	1	0	0	0	0	0	0	0	1	3942	1335	47	4		4	CRYBB3	22	25601255	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08		25601255	25703311	526	52180											
APOL6	80830	broad.mit.edu	37	chr22	36054987	36054987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggggtcaccagcatcGtgagtggtacgttggaacgc	8	8	15	10	3	1	1	1	1	0	0	2	2	1	2	1	4	4	4	1	4	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:36054987G>A	ENST00000409652.3	+	3	652	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	126					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CACCAGCATCGTGAGTGGTAC	0.577													11	51					0	0	0	0	A	36054987	G	A	36054987	3	1	292	1	0	0	0	0	1	0	0	0	812	1145	40	1	382	1	APOL6	22	36054987	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	10453732	36054987	15249579	527	52181											
TST	7263	broad.mit.edu	37	chr22	37407115	37407115	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacacggctctctgggggggCccggcgaaaccactcggacc	7	4	14	16	4	1	0	0	0	1	0	3	2	1	1	3	6	1	1	3	6	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:37407115C>G	ENST00000403892.3	-	2	1581	c.847G>C	c.(847-849)Gcc>Ccc	p.A283P	TST_ENST00000249042.3_Missense_Mutation_p.A283P	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	283	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						TCTGGGGGGGCCCGGCGAAAC	0.632													11	101					0	0	0	0	G	37407115	C	G	37407115	3	3	292	1	0	0	0	0	1	0	0	0	16768	739	26	4	50	4	TST	22	37407115	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1352128	37407115	13897451	528	52182											
CACNA1I	8911	broad.mit.edu	37	chr22	40055471	40055471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatttttggctgcaagttCagcctccgcacggacactgg	8	11	10	12	2	1	0	1	0	0	0	2	1	2	1	2	3	2	4	2	3	2	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:40055471C>A	ENST00000336649.4	+	16	2382	c.2382C>A	c.(2380-2382)ttC>ttA	p.F794L	CACNA1I_ENST00000401624.1_Missense_Mutation_p.F788L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.F788L|CACNA1I_ENST00000404898.1_Missense_Mutation_p.F753L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.F753L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.F753L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	788					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTGCAAGTTCAGCCTCCGCA	0.562													5	7					1.23904e-05	1.9259e-05	1	0	A	40055471	C	A	40055471	3	1	292	1	0	0	0	0	1	0	0	0	2571	825	29	2	2414	2	CACNA1I	22	40055471	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	2648356	40055471	11249095	529	52183											
MKL1	57591	broad.mit.edu	37	chr22	40815102	40815102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacggggggcgtggagcccGtgctgccaaacttcaccacc	8	5	13	15	3	1	0	1	0	0	0	1	1	1	1	4	4	4	1	4	4	1	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:40815102G>A	ENST00000396617.3	-	12	1930	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	MKL1_ENST00000355630.3_Missense_Mutation_p.T447M|MKL1_ENST00000407029.1_Missense_Mutation_p.T447M|MKL1_ENST00000402042.1_Missense_Mutation_p.T397M			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	447					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	p.T447M(1)		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						CGTGGAGCCCGTGCTGCCAAA	0.692			T	RBM15	acute megakaryocytic leukemia								9	14					0	0	0	0	A	40815102	G	A	40815102	3	1	292	1	0	0	0	0	1	0	0	0	9670	1145	40	1	1471	1	MKL1	22	40815102	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	759631	40815102	10489464	530	52184											
ACO2	50	broad.mit.edu	37	chr22	41922444	41922444	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggccccgtccctgacactgCccgctactacaaggtgggtc	6	8	11	16	2	0	1	0	1	0	0	2	1	1	1	4	3	3	1	4	3	3	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:41922444C>G	ENST00000396512.3	+	15	2032	c.2015C>G	c.(2014-2016)gCc>gGc	p.A672G	POLR3H_ENST00000355209.4_3'UTR|POLR3H_ENST00000396504.2_3'UTR|ACO2_ENST00000216254.4_Missense_Mutation_p.A647G			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	647					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCTGACACTGCCCGCTACTAC	0.577											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	100					0	0	0	0	G	41922444	C	G	41922444	3	3	292	1	0	0	0	0	1	0	0	0	147	739	26	4	1998	4	ACO2	22	41922444	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1107342	41922444	9382122	531	52185											
SEPT3	55964	broad.mit.edu	37	chr22	42383671	42383671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatgagcagtacgagaagttCctgaaggaggaggtcaacat	15	7	13	6	1	1	3	1	2	0	1	2	6	2	5	1	3	3	3	1	3	5	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:42383671C>T	ENST00000328414.8	+	3	386	c.248C>T	c.(247-249)tCc>tTc	p.S83F	SEPT3_ENST00000396425.3_Silent_p.F153F|SEPT3_ENST00000396426.3_Silent_p.F153F|SEPT3_ENST00000291236.11_Silent_p.F89F|SEPT3_ENST00000406029.1_Silent_p.F89F			Q9UH03	SEPT3_HUMAN	septin 3	0					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						ACGAGAAGTTCCTGAAGGAGG	0.507													18	44					0	0	0	0	T	42383671	C	T	42383671	3	4	292	1	0	0	0	0	1	0	0	0	14152	854	30	2	477	2	SEPT3	22	42383671	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	461227	42383671	8920895	532	52186											
ATP5L2	267020	broad.mit.edu	37	chr22	43036197	43036197	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtagtaccaaaatgcGgccaatcgaggcttcaagta	12	9	12	8	2	1	0	1	0	0	0	2	1	1	0	2	3	2	4	2	3	7	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:43036197G>A	ENST00000505920.1	-	1	410	c.84C>T	c.(82-84)gcC>gcT	p.A28A	CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000352397.5_Intron	NM_001165877.1	NP_001159349.1	Q7Z4Y8	AT5L2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2	28					ATP synthesis coupled proton transport	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			endometrium(1)|kidney(1)	2						ACCAAAATGCGGCCAATCGAG	0.507													4	20					0	0	0	0	A	43036197	G	A	43036197	2	1	292	1	0	0	0	0	0	0	0	1	1165	1103	39	1		1	ATP5L2	22	43036197	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	652526	43036197	8268369	533	52187											
CELSR1	9620	broad.mit.edu	37	chr22	46760459	46760459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcctggctgcgcccccgCtctcctggtccggggggtac	3	7	14	17	3	1	0	0	0	1	0	3	0	2	0	5	5	3	3	5	5	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:46760459C>T	ENST00000262738.3	-	33	8728	c.8729G>A	c.(8728-8730)aGc>aAc	p.S2910N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2910					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCGCCCCCGCTCTCCTGGTC	0.692													50	15					0	0	0	0	T	46760459	C	T	46760459	3	4	292	1	0	0	0	0	1	0	0	0	3250	797	28	4	327	4	CELSR1	22	46760459	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3724262	46760459	4544107	534	52188											
ALG12	79087	broad.mit.edu	37	chr22	50307385	50307385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccccagcagcaggggcCgcctgcctgatgaccccttt	6	6	12	17	1	0	2	0	2	0	0	0	2	0	2	7	2	4	3	7	2	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:50307385C>A	ENST00000330817.5	-	2	302	c.29G>T	c.(28-30)cGg>cTg	p.R10L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	10					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCAGGGGCCGCCTGCCTGA	0.602													36	114					1.30998e-17	2.57116e-17	1	0	A	50307385	C	A	50307385	3	1	292	1	0	0	0	0	1	0	0	0	514	652	23	3	1473	3	ALG12	22	50307385	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3546926	50307385	997181	535	52189											
MAPK11	5600	broad.mit.edu	37	chr22	50705104	50705104	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctcctccaggagacccAcagtcacatccagaccccaa	11	5	6	19	0	1	2	1	0	0	2	5	3	5	2	7	1	0	0	7	1	1	0			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:50705104A>C	ENST00000449719.2	-	6	881	c.545T>G	c.(544-546)gTg>gGg	p.V182G	MAPK11_ENST00000330651.6_Intron			Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	0	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGAGACCCACAGTCACATC	0.642													4	18					0	0	0	0	C	50705104	A	C	50705104	3	2	292	1	0	0	0	0	1	0	0	0	9342	174	6	5		5	MAPK11	22	50705104	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	397719	50705104	599462	536	52190											
MAGEB4	4115	broad.mit.edu	37	chrX	30261232	30261232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgcagccaggcgtggcaCtacagccatgactagtgcgt	9	8	13	11	2	0	1	0	1	0	0	0	1	0	1	2	2	5	3	2	2	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:30261232C>T	ENST00000378982.2	+	1	1176	c.980C>T	c.(979-981)aCt>aTt	p.T327I		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	327										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AGGCGTGGCACTACAGCCATG	0.517													14	69					0	0	0	0	T	30261232	C	T	30261232	3	4	292	1	0	0	0	0	1	0	0	0	9247	565	20	4	982	4	MAGEB4	23	30261232	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08		30261232	125009328	537	52191											
FAM120C	54954	broad.mit.edu	37	chrX	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC																															gggccccgggcagctgagggINSggcggcggcggcggcagcgg																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>cGCCGCCcc	p.109_110insRR	FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	109										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748													7	0	---	---	---	---					GGCGGC	54209303	-	GGCGGC	54209302	7	5	292	1	0	1	1	0	0	0	0	0	5459	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-CV-7245-01A-11D-2012-08	23948070	54209302	101061258	538	52192											
MSN	4478	broad.mit.edu	37	chrX	64959704	64959704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacaagaccctgcgccaGatccggcagggcaacaccaa	15	3	9	14	2	0	2	0	0	0	2	1	2	1	2	4	2	3	2	4	2	5	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:64959704G>T	ENST00000360270.5	+	13	1855	c.1683G>T	c.(1681-1683)caG>caT	p.Q561H	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	561					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CCCTGCGCCAGATCCGGCAGG	0.547			T	ALK	ALCL								24	27					1.1804e-14	2.22519e-14	1	0	T	64959704	G	T	64959704	3	4	292	1	0	0	0	0	1	0	0	0	9955	933	33	2	1733	2	MSN	23	64959704	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	10750402	64959704	90310856	539	52193											
RAB41	347517	broad.mit.edu	37	chrX	69502178	69502178	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatctaaactcttattcctGggagagcagagcggtgtggg	11	10	13	7	1	2	2	0	0	2	2	3	3	3	2	1	3	3	1	1	3	4	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:69502178G>T	ENST00000374473.2	+	1	157	c.111G>T	c.(109-111)ctG>ctT	p.L37L	RAB41_ENST00000276066.4_Silent_p.L37L			Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	37					protein transport|small GTPase mediated signal transduction		GTP binding			breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						TCTTATTCCTGGGAGAGCAGA	0.557													13	9					9.05144e-12	1.61506e-11	1	0	T	69502178	G	T	69502178	2	4	292	1	0	0	0	0	0	0	0	1	13025	1335	47	4		4	RAB41	23	69502178	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	4542474	69502178	85768382	540	52194											
LPAR4	2846	broad.mit.edu	37	chrX	78011270	78011270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttgtgccttgcaactCtgaactgttgttttgaccct	6	16	7	12	0	2	2	1	2	1	0	2	2	2	2	3	0	4	3	3	0	2	5			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:78011270C>A	ENST00000435339.2	+	2	1309	c.904C>A	c.(904-906)Ctg>Atg	p.L302M	LPAR4_ENST00000373301.2_Missense_Mutation_p.L302M	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	302						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCTTGCAACTCTGAACTGTTG	0.423													22	11					8.10497e-08	1.34322e-07	1	0	A	78011270	C	A	78011270	3	1	292	1	0	0	0	0	1	0	0	0	8971	912	32	2	906	2	LPAR4	23	78011270	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	8509092	78011270	77259290	541	52195											
CPXCR1	53336	broad.mit.edu	37	chrX	88009299	88009299	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaattaagacaacattCatgcagctcttctgggaatt	12	13	7	9	0	4	2	1	1	3	1	4	3	4	3	0	1	3	2	0	1	4	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:88009299C>A	ENST00000276127.4	+	3	1143	c.884C>A	c.(883-885)tCa>tAa	p.S295*	CPXCR1_ENST00000373111.1_Nonsense_Mutation_p.S295*	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	295						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AGACAACATTCATGCAGCTCT	0.299													16	2					1.99824e-07	3.27371e-07	1	0	A	88009299	C	A	88009299	4	1	292	1	0	0	0	0	0	1	0	0	3866	838	29	2	886	2	CPXCR1	23	88009299	Nonsense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	9998029	88009299	67261261	542	52196											
DIAPH2	1730	broad.mit.edu	37	chrX	96396710	96396710	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaacaacccttttgcattTtattgccgacatttgtgagg	12	14	7	8	1	0	1	0	1	0	0	0	2	0	1	2	1	4	1	2	1	4	6			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:96396710T>C	ENST00000324765.8	+	22	2983	c.2636T>C	c.(2635-2637)tTt>tCt	p.F879S	DIAPH2_ENST00000373054.4_Missense_Mutation_p.F875S|DIAPH2_ENST00000373061.3_Missense_Mutation_p.F879S|DIAPH2_ENST00000355827.4_Missense_Mutation_p.F879S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.F879S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	879	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CTTTTGCATTTTATTGCCGAC	0.308													12	21					0	0	0	0	C	96396710	T	C	96396710	3	2	292	1	0	0	0	0	1	0	0	0	4556	1841	64	5	2722	5	DIAPH2	23	96396710	Missense_Mutation	SNP	T	TCGA-CV-7245-01A-11D-2012-08	8387411	96396710	58873850	543	52197											
PCDH19	57526	broad.mit.edu	37	chrX	99551562	99551562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcacagccattgcctgcctCccggataacgctgttgacct	7	10	8	16	2	1	1	1	1	0	0	2	2	2	2	5	1	4	2	5	1	1	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:99551562C>G	ENST00000373034.4	-	6	4835	c.3160G>C	c.(3160-3162)Gag>Cag	p.E1054Q	PCDH19_ENST00000420881.2_Missense_Mutation_p.E1006Q|PCDH19_ENST00000255531.7_Missense_Mutation_p.E1007Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1054					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TTGCCTGCCTCCCGGATAACG	0.597													32	31					0	0	0	0	G	99551562	C	G	99551562	3	3	292	1	0	0	0	0	1	0	0	0	11585	864	30	2	290	2	PCDH19	23	99551562	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	3154852	99551562	55718998	544	52198											
PCDH19	57526	broad.mit.edu	37	chrX	99551615	99551615	+	Frame_Shift_Del	DEL	T	T	-																															tggtcacatcgacagtcctcTtgcctttcagggtaggcctc																										TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:99551615delT	ENST00000373034.4	-	6	4782	c.3107delA	c.(3106-3108)agfs	p.K1036fs	PCDH19_ENST00000420881.2_Frame_Shift_Del_p.K988fs|PCDH19_ENST00000255531.7_Frame_Shift_Del_p.K989fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1036					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GACAGTCCTCTTGCCTTTCAG	0.597													28	40	---	---	---	---					-	99551615	T	-	99551615	7	5	292	1	0	1	0	1	0	0	0	0	11585	1609	56	0	343	0	PCDH19	23	99551615	Frame_Shift_Del	DEL	T	TCGA-CV-7245-01A-11D-2012-08	53	99551615	55718945	545	52199											
IRS4	8471	broad.mit.edu	37	chrX	107978532	107978532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagggttaacaggtgggcgCcgatgctgatgctgtagctg	7	9	17	8	2	0	1	0	1	0	0	0	2	0	1	1	3	4	6	1	3	2	2			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:107978532C>T	ENST00000372129.2	-	1	1119	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	348						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CAGGTGGGCGCCGATGCTGAT	0.592													76	185					0	0	0	0	T	107978532	C	T	107978532	3	4	292	1	0	0	0	0	1	0	0	0	7895	739	26	4	2734	4	IRS4	23	107978532	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	8426917	107978532	47292028	546	52200											
AMOT	154796	broad.mit.edu	37	chrX	112054479	112054479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgttggttccctcacctCtcagatccctgttgaaatca	7	14	7	13	0	4	2	3	1	2	1	7	2	6	2	3	1	0	3	3	1	1	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:112054479C>A	ENST00000371959.3	-	3	1534	c.1535G>T	c.(1534-1536)aGa>aTa	p.R512I	AMOT_ENST00000524145.1_Missense_Mutation_p.R512I|AMOT_ENST00000371962.1_Missense_Mutation_p.R280I|AMOT_ENST00000304758.1_Missense_Mutation_p.R103I|AMOT_ENST00000371958.1_Missense_Mutation_p.R280I	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	512					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCCCTCACCTCTCAGATCCCT	0.512													86	77					6.11831e-30	1.27327e-29	1	0	A	112054479	C	A	112054479	3	1	292	1	0	0	0	0	1	0	0	0	582	913	32	2	1755	2	AMOT	23	112054479	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	4075947	112054479	43216081	547	52201											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299776	125299776	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctgcgacgcgtcgccggCcgcttctgcttcttgggtag	3	10	14	14	6	2	0	0	0	2	0	3	1	2	0	3	2	3	3	3	2	1	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:125299776C>T	ENST00000538699.1	-	2	212	c.132G>A	c.(130-132)cgG>cgA	p.R44R	DCAF12L2_ENST00000360028.2_Silent_p.R44R	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	44										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCGTCGCCGGCCGCTTCTGCT	0.731													44	3					0	0	0	0	T	125299776	C	T	125299776	2	4	292	1	0	0	0	0	0	0	0	1	4298	726	26	4		4	DCAF12L2	23	125299776	Silent	SNP	C	TCGA-CV-7245-01A-11D-2012-08	13245297	125299776	29970784	548	52202											
SASH3	54440	broad.mit.edu	37	chrX	128926745	128926745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcatgcccgccccagccgccGacagagcaagggcaagaggc	10	1	14	16	3	0	2	0	0	0	2	0	3	0	2	5	2	3	3	5	2	2	0	rs35096611	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:128926745G>C	ENST00000356892.3	+	6	848	c.734G>C	c.(733-735)cGa>cCa	p.R245P		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	245										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CCCAGCCGCCGACAGAGCAAG	0.597													51	9					0	0	0	0	C	128926745	G	C	128926745	3	2	292	1	0	0	0	0	1	0	0	0	13935	1058	37	3	756	3	SASH3	23	128926745	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	3626969	128926745	26343815	549	52203											
BCORL1	63035	broad.mit.edu	37	chrX	129149304	129149304	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccagtgccgggcagctGacccccagtcagggggcgcc	6	6	14	15	2	1	1	1	1	0	0	2	1	2	1	5	3	2	2	5	3	0	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:129149304G>T	ENST00000540052.1	+	3	2600	c.2556G>T	c.(2554-2556)ctG>ctT	p.L852L	BCORL1_ENST00000218147.7_Silent_p.L852L|BCORL1_ENST00000303743.5_Silent_p.L852L|BCORL1_ENST00000359304.2_Silent_p.L852L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	852					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCGGGCAGCTGACCCCCAGTC	0.617													83	27					2.13431e-38	4.48832e-38	1	0	T	129149304	G	T	129149304	2	4	292	1	0	0	0	0	0	0	0	1	1391	1277	45	2		2	BCORL1	23	129149304	Silent	SNP	G	TCGA-CV-7245-01A-11D-2012-08	222559	129149304	26121256	550	52204											
MAGEC3	139081	broad.mit.edu	37	chrX	140984215	140984215	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttctcacatcctcctacAggttctgagggagcaaacct	9	11	8	13	0	2	1	1	1	2	0	5	2	4	2	3	2	3	3	3	2	2	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:140984215A>G	ENST00000544766.1	+	4	382		c.e4-1		MAGEC3_ENST00000483584.1_Splice_Site|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000409007.1_Intron|MAGEC3_ENST00000443323.2_Splice_Site	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCTCCTACAGGTTCTGAGG	0.572													13	12					0	0	0	0	G	140984215	A	G	140984215	5	3	292	1	0	0	0	0	0	0	1	0	9251	202	7	5		5	MAGEC3	23	140984215	Splice_Site	SNP	A	TCGA-CV-7245-01A-11D-2012-08	11834911	140984215	14286345	551	52205											
SLITRK4	139065	broad.mit.edu	37	chrX	142716919	142716919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttgtggtcatgcttcCttagctgcagctgcatggag	5	15	13	8	0	1	0	1	0	0	0	2	1	2	1	1	3	5	6	1	3	1	4			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:142716919C>T	ENST00000381779.4	-	2	2231	c.2006G>A	c.(2005-2007)aGg>aAg	p.R669K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.R669K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R669K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	669						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)					GTCATGCTTCCTTAGCTGCAG	0.473													40	138					0	0	0	0	T	142716919	C	T	142716919	3	4	292	1	0	0	0	0	1	0	0	0	14833	681	24	4	511	4	SLITRK4	23	142716919	Missense_Mutation	SNP	C	TCGA-CV-7245-01A-11D-2012-08	1732704	142716919	12553641	552	52206											
SLITRK2	84631	broad.mit.edu	37	chrX	144904578	144904578	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagggatcatggagattcAgctggaggaaaatccatgga	13	8	15	5	0	2	1	2	0	0	1	3	7	3	6	1	6	1	1	1	6	2	1			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:144904578A>G	ENST00000370490.1	+	1	4890	c.635A>G	c.(634-636)cAg>cGg	p.Q212R	SLITRK2_ENST00000428560.2_Missense_Mutation_p.Q212R|SLITRK2_ENST00000434188.2_Missense_Mutation_p.Q212R|SLITRK2_ENST00000413937.2_Missense_Mutation_p.Q212R|SLITRK2_ENST00000447897.2_Missense_Mutation_p.Q212R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	212						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGAGATTCAGCTGGAGGAA	0.473													4	137					0	0	0	0	G	144904578	A	G	144904578	3	3	292	1	0	0	0	0	1	0	0	0	14831	188	7	5	637	5	SLITRK2	23	144904578	Missense_Mutation	SNP	A	TCGA-CV-7245-01A-11D-2012-08	2187659	144904578	10365982	553	52207											
CNGA2	1260	broad.mit.edu	37	chrX	150912139	150912139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcagagttccaggctaaGatcgatgccgtgaaacacta	12	7	12	10	3	0	3	0	1	0	2	2	4	1	3	2	2	2	3	2	2	3	3			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:150912139G>T	ENST00000329903.4	+	6	1197	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	388					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGCTAAGATCGATGCCG	0.502													17	77					1.5739e-10	2.76884e-10	1	0	T	150912139	G	T	150912139	3	4	292	1	0	0	0	0	1	0	0	0	3627	933	33	2	1186	2	CNGA2	23	150912139	Missense_Mutation	SNP	G	TCGA-CV-7245-01A-11D-2012-08	6007561	150912139	4358421	554	52208											
CDK11B	984	broad.mit.edu	37	chr1	1573143	1573143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctaacggtgacgatgttgGgatgctgggccttgaggatg	7	11	16	7	2	1	2	0	2	1	0	1	5	1	4	1	4	2	2	1	4	1	3			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:1573143G>T	ENST00000407249.3	-	14	1453	c.1454C>A	c.(1453-1455)cCc>cAc	p.P485H	CDK11B_ENST00000341832.6_Missense_Mutation_p.P438H|CDK11B_ENST00000340677.5_Missense_Mutation_p.P472H|CDK11B_ENST00000317673.7_Missense_Mutation_p.P483H			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	495	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GACGATGTTGGGATGCTGGGC	0.607													21	222					1.28384e-07	6.86516e-07	1	0	T	1573143	G	T	1573143	3	4	293	1	0	0	0	0	1	0	0	0	3156	1232	43	4	935	4	CDK11B	1	1573143	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08		1573143	247677478	1	52209											
ARHGEF16	27237	broad.mit.edu	37	chr1	3397090	3397090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgcttcatcaccagccGtgtggccgtggagggcaatg	6	8	14	13	3	2	0	2	0	0	0	2	1	2	1	4	3	2	2	4	3	1	1			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:3397090G>A	ENST00000378378.4	+	15	2474	c.2069G>A	c.(2068-2070)cGt>cAt	p.R690H	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.R394H|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.R402H|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.R402H	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	690					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ATCACCAGCCGTGTGGCCGTG	0.677													6	49					0	0	0	0	A	3397090	G	A	3397090	3	1	293	1	0	0	0	0	1	0	0	0	901	1145	40	1	2123	1	ARHGEF16	1	3397090	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	1823947	3397090	245853531	2	52210											
MAN1C1	57134	broad.mit.edu	37	chr1	25944781	25944781	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacgagggccgatgagagtCaggagccccagagccaagtg	12	3	16	10	2	1	2	1	1	0	2	1	7	1	3	4	2	3	0	4	2	2	0			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:25944781C>T	ENST00000374332.4	+	1	823	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	165					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CGATGAGAGTCAGGAGCCCCA	0.637													5	12					0	0	0	0	T	25944781	C	T	25944781	4	4	293	1	0	0	0	0	0	1	0	0	9282	827	29	2	495	2	MAN1C1	1	25944781	Nonsense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	22547691	25944781	223305840	3	52211											
C1orf177	163747	broad.mit.edu	37	chr1	55279519	55279519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaactgatgaatttcaaGagctttgtagaagaacttaa	16	11	10	4	0	1	5	1	2	0	3	1	6	1	6	0	1	3	2	0	1	7	4			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:55279519G>T	ENST00000358193.3	+	7	849	c.795G>T	c.(793-795)aaG>aaT	p.K265N	C1orf177_ENST00000371273.3_Missense_Mutation_p.K265N	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	265										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TGAATTTCAAGAGCTTTGTAG	0.413													6	60					0.00116845	0.00576282	1	0	T	55279519	G	T	55279519	3	4	293	1	0	0	0	0	1	0	0	0	2036	933	33	2	821	2	C1orf177	1	55279519	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	29334738	55279519	193971102	4	52212											
PRKAA2	5563	broad.mit.edu	37	chr1	57140142	57140142	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagatgttgttggaaaaatAaaacgagaaattcaaaatct	19	12	7	3	1	2	2	1	0	1	2	2	4	2	3	0	1	1	2	0	1	8	5			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:57140142A>C	ENST00000371244.4	+	2	249	c.183A>C	c.(181-183)atA>atC	p.I61I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	61	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TTGGAAAAATAAAACGAGAAA	0.294													18	62					0	0	0	0	C	57140142	A	C	57140142	2	2	293	1	0	0	0	0	0	0	0	1	12574	352	13	5		5	PRKAA2	1	57140142	Silent	SNP	A	TCGA-CV-7247-01A-11D-2012-08	1860623	57140142	192110479	5	52213											
USP33	23032	broad.mit.edu	37	chr1	78194375	78194375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgaagcaaatccattaaaCatcgaaggaattcttgagca	17	9	7	8	1	1	2	0	2	1	0	3	4	2	3	1	1	3	2	1	1	6	3			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:78194375C>T	ENST00000370793.1	-	11	1179	c.833G>A	c.(832-834)tGt>tAt	p.C278Y	USP33_ENST00000370794.3_Missense_Mutation_p.C247Y|USP33_ENST00000357428.1_Missense_Mutation_p.C278Y|USP33_ENST00000370792.3_Missense_Mutation_p.C278Y	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	278					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ATCCATTAAACATCGAAGGAA	0.353													28	50					0	0	0	0	T	78194375	C	T	78194375	3	4	293	1	0	0	0	0	1	0	0	0	17160	478	17	4	2067	4	USP33	1	78194375	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	21054233	78194375	171056246	6	52214											
FLG	2312	broad.mit.edu	37	chr1	152283083	152283083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcccctgactggccacgtgCggactctttgtggctctgct	3	13	11	14	2	2	1	0	1	2	0	3	2	3	2	3	3	2	2	3	3	0	2	rs148844389	byFrequency	TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:152283083C>T	ENST00000368799.1	-	3	4314	c.4279G>A	c.(4279-4281)Gca>Aca	p.A1427T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1427	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCACGTGCGGACTCTTTG	0.557									Ichthyosis				38	318					0	0	0	0	T	152283083	C	T	152283083	3	4	293	1	0	0	0	0	1	0	0	0	5967	768	27	1	7910	1	FLG	1	152283083	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	74088708	152283083	96967538	7	52215											
PPOX	5498	broad.mit.edu	37	chr1	161140306	161140306	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcccccctggcctcagagtGactgtgaggaggaggaaact	10	6	14	11	0	1	3	1	2	0	1	1	6	1	6	4	4	2	0	4	4	1	0			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:161140306G>A	ENST00000367999.4	+	10	1361	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V	PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Silent_p.V110V|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Silent_p.V365V	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	365					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCTCAGAGTGACTGTGAGGA	0.542													10	66					0	0	0	0	A	161140306	G	A	161140306	2	1	293	1	0	0	0	0	0	0	0	1	12424	1277	45	2		2	PPOX	1	161140306	Silent	SNP	G	TCGA-CV-7247-01A-11D-2012-08	8857223	161140306	88110315	8	52216											
PAPPA2	60676	broad.mit.edu	37	chr1	176563958	176563958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcatcttgccgctctttGctcctggggggagacagctc	5	11	13	12	1	2	1	0	0	2	1	4	2	3	1	2	4	3	4	2	4	0	2			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:176563958G>T	ENST00000367662.3	+	3	2382	c.1218G>T	c.(1216-1218)ttG>ttT	p.L406F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L406F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	406					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCCGCTCTTTGCTCCTGGGGG	0.587													32	59					4.3181e-19	2.49272e-18	1	0	T	176563958	G	T	176563958	3	4	293	1	0	0	0	0	1	0	0	0	11504	1310	46	4	1224	4	PAPPA2	1	176563958	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	15423652	176563958	72686663	9	52217											
USH2A	7399	broad.mit.edu	37	chr1	216380633	216380633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtatgggtattgatcctCtgttgtgtagatttcaaaac	10	16	9	6	0	2	2	1	1	1	1	3	2	3	2	1	1	1	4	1	1	5	6			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:216380633C>G	ENST00000366943.2	-	16	3684	c.3298G>C	c.(3298-3300)Gag>Cag	p.E1100Q	USH2A_ENST00000366942.3_Missense_Mutation_p.E1100Q|USH2A_ENST00000307340.3_Missense_Mutation_p.E1100Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1100	Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATTGATCCTCTGTTGTGTAG	0.373										HNSCC(13;0.011)			9	48					0	0	0	0	G	216380633	C	G	216380633	3	3	293	1	0	0	0	0	1	0	0	0	17132	922	32	2	12552	2	USH2A	1	216380633	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	39816675	216380633	32869988	10	52218											
HEATR1	55127	broad.mit.edu	37	chr1	236760193	236760193	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgatacgtcctctgcagcTaccagcgccgacactatggt	8	10	9	14	3	2	1	0	1	2	0	3	2	3	1	3	1	5	2	3	1	3	3			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:236760193T>C	ENST00000366582.3	-	6	801	c.687A>G	c.(685-687)gtA>gtG	p.V229V	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Silent_p.V229V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	229					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCTCTGCAGCTACCAGCGCCG	0.448													10	80					0	0	0	0	C	236760193	T	C	236760193	2	2	293	1	0	0	0	0	0	0	0	1	7077	1509	53	5		5	HEATR1	1	236760193	Silent	SNP	T	TCGA-CV-7247-01A-11D-2012-08	20379560	236760193	12490428	11	52219											
OR14A16	284532	broad.mit.edu	37	chr1	247978414	247978414	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatgacaataaaacagcaGaaatccaaaactacattaat	22	8	4	7	0	0	3	0	2	0	1	1	3	1	3	1	0	4	1	1	0	8	3			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:247978414G>A	ENST00000357627.1	-	1	617	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TAAAACAGCAGAAATCCAAAA	0.373													4	50					0	0	0	0	A	247978414	G	A	247978414	2	1	293	1	0	0	0	0	0	0	0	1	11016	933	33	2		2	OR14A16	1	247978414	Silent	SNP	G	TCGA-CV-7247-01A-11D-2012-08	11218221	247978414	1272207	12	52220											
OR2T27	403239	broad.mit.edu	37	chr1	248814121	248814121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagagaagccaggggaaaCgggcgttgctgaacaaaccc	15	3	13	10	2	0	2	0	1	0	1	0	4	0	3	2	3	5	2	2	3	5	1			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr1:248814121C>T	ENST00000344889.3	-	1	64	c.65G>A	c.(64-66)cGt>cAt	p.R22H		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGGGGAAACGGGCGTTGCT	0.483													13	86					0	0	0	0	T	248814121	C	T	248814121	3	4	293	1	0	0	0	0	1	0	0	0	11092	536	19	1	891	1	OR2T27	1	248814121	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	835707	248814121	436500	13	52221											
HEATR5B	54497	broad.mit.edu	37	chr2	37284598	37284598	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagtgaattccgctaccagTtctctaagaagtgcattaaa	15	11	7	8	1	1	2	0	1	1	1	3	2	2	2	2	0	2	3	2	0	7	5			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:37284598T>G	ENST00000233099.5	-	15	2180	c.2085A>C	c.(2083-2085)gaA>gaC	p.E695D	HEATR5B_ENST00000354531.2_Missense_Mutation_p.E695D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	695							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCGCTACCAGTTCTCTAAGAA	0.363													6	23					0	0	0	0	G	37284598	T	G	37284598	3	3	293	1	0	0	0	0	1	0	0	0	7082	1722	60	5	4218	5	HEATR5B	2	37284598	Missense_Mutation	SNP	T	TCGA-CV-7247-01A-11D-2012-08		37284598	205914775	14	52222											
QPCT	25797	broad.mit.edu	37	chr2	37599902	37599902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgacaatgaagaaaatttgGatgaatcaaccattgacaat	19	10	7	5	0	1	5	1	4	0	1	1	6	1	6	1	1	1	0	1	1	7	2			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:37599902G>A	ENST00000338415.3	+	7	1176	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	QPCT_ENST00000537448.1_Missense_Mutation_p.D291N	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	340					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				AGAAAATTTGGATGAATCAAC	0.358													4	75					0	0	0	0	A	37599902	G	A	37599902	3	1	293	1	0	0	0	0	1	0	0	0	12956	1174	41	2	1044	2	QPCT	2	37599902	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	315304	37599902	205599471	15	52223											
CTNNA2	1496	broad.mit.edu	37	chr2	80816531	80816531	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgcagaagtggccaaaTgggacgacagcggcaatgat	13	6	15	7	2	0	2	0	1	0	1	0	5	0	4	1	4	2	2	1	4	3	0			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:80816531T>G	ENST00000466387.1	+	19	2834	c.2110T>G	c.(2110-2112)Tgg>Ggg	p.W704G	CTNNA2_ENST00000541047.1_Missense_Mutation_p.W704G|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.W738G|CTNNA2_ENST00000540488.1_Missense_Mutation_p.W704G|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.W704G|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.W383G|CTNNA2_ENST00000402739.4_Missense_Mutation_p.W704G			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	704					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGTGGCCAAATGGGACGACAG	0.498													9	81					0	0	0	0	G	80816531	T	G	80816531	3	3	293	1	0	0	0	0	1	0	0	0	4045	1464	51	5	1956	5	CTNNA2	2	80816531	Missense_Mutation	SNP	T	TCGA-CV-7247-01A-11D-2012-08	43216629	80816531	162382842	16	52224											
ZRANB3	84083	broad.mit.edu	37	chr2	135965229	135965229	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccgtgaatcccaagagttCgctttacatgcttgcttagt	10	13	8	10	2	0	2	0	1	0	1	2	2	1	2	2	0	4	4	2	0	5	5			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:135965229C>T	ENST00000401392.1	-	19	2990	c.2778G>A	c.(2776-2778)gcG>gcA	p.A926A	ZRANB3_ENST00000264159.6_Silent_p.A928A|ZRANB3_ENST00000536680.1_Silent_p.A926A|ZRANB3_ENST00000412849.1_5'UTR			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	928						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CCCAAGAGTTCGCTTTACATG	0.428													28	194					0	0	0	0	T	135965229	C	T	135965229	2	4	293	1	0	0	0	0	0	0	0	1	18317	871	31	1		1	ZRANB3	2	135965229	Silent	SNP	C	TCGA-CV-7247-01A-11D-2012-08	55148698	135965229	107234144	17	52225											
STK39	27347	broad.mit.edu	37	chr2	169020294	169020294	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatagtctaagccttccaaaAcctctttaagaattgttgct	12	14	6	9	0	2	1	0	0	2	1	3	2	3	1	3	0	3	2	3	0	6	7			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:169020294A>C	ENST00000355999.4	-	4	1232	c.527T>G	c.(526-528)gTt>gGt	p.V176G		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	176	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						GCCTTCCAAAACCTCTTTAAG	0.363													5	50					0	0	0	0	C	169020294	A	C	169020294	3	2	293	1	0	0	0	0	1	0	0	0	15395	43	2	5	1170	5	STK39	2	169020294	Missense_Mutation	SNP	A	TCGA-CV-7247-01A-11D-2012-08	33055065	169020294	74179079	18	52226											
CERKL	375298	broad.mit.edu	37	chr2	182414397	182414397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgttgcagttatcacatgagGaactccatgaagagaatgtg	13	11	11	6	0	1	3	1	2	0	1	2	5	2	4	1	1	2	3	1	1	4	2			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr2:182414397G>A	ENST00000410087.3	-	6	959	c.859C>T	c.(859-861)Cct>Tct	p.P287S	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Missense_Mutation_p.P174S|CERKL_ENST00000409440.3_Missense_Mutation_p.P269S|CERKL_ENST00000374970.2_Missense_Mutation_p.P218S|CERKL_ENST00000339098.5_Missense_Mutation_p.P313S	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	313	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCACATGAGGAACTCCATGA	0.343													11	80					0	0	0	0	A	182414397	G	A	182414397	3	1	293	1	0	0	0	0	1	0	0	0	3297	1174	41	2	771	2	CERKL	2	182414397	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	13394103	182414397	60784976	19	52227											
KIAA2018	205717	broad.mit.edu	37	chr3	113378750	113378750	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccaggaggtggagcagggagGagtggcaaaggattctgatt	11	7	18	5	0	1	1	0	1	1	0	1	6	1	6	1	7	1	2	1	7	1	2			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:113378750G>C	ENST00000316407.4	-	7	2189	c.1779C>G	c.(1777-1779)ctC>ctG	p.L593L	KIAA2018_ENST00000478658.1_Silent_p.L593L|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	593					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAGCAGGGAGGAGTGGCAAAG	0.473													30	67					0	0	0	0	C	113378750	G	C	113378750	2	2	293	1	0	0	0	0	0	0	0	1	8319	1161	41	2		2	KIAA2018	3	113378750	Silent	SNP	G	TCGA-CV-7247-01A-11D-2012-08		113378750	84643680	20	52228											
SRPRB	58477	broad.mit.edu	37	chr3	133538447	133538447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccagcacactggacagttCcagcactgcccctgctcagc	8	6	8	19	0	1	0	1	0	0	0	2	1	2	1	5	1	5	4	5	1	0	1			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:133538447C>A	ENST00000466490.2	+	8	938	c.653C>A	c.(652-654)tCc>tAc	p.S218Y		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	218						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CTGGACAGTTCCAGCACTGCC	0.517													7	71					0.000673444	0.00338722	1	0	A	133538447	C	A	133538447	3	1	293	1	0	0	0	0	1	0	0	0	15253	855	30	2	679	2	SRPRB	3	133538447	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	20159697	133538447	64483983	21	52229											
CLSTN2	64084	broad.mit.edu	37	chr3	140167413	140167413	+	Frame_Shift_Del	DEL	C	C	-																															tccgggagcatgcccctgttCcccagcatccacctggagac																										TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:140167413delC	ENST00000458420.3	+	6	1030	c.840delC	c.(838-840)ttfs	p.F280fs		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	280	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGCCCCTGTTCCCCAGCATCC	0.537										HNSCC(16;0.037)			72	112	---	---	---	---					-	140167413	C	-	140167413	7	5	293	1	0	1	0	1	0	0	0	0	3592	854	30	0	862	0	CLSTN2	3	140167413	Frame_Shift_Del	DEL	C	TCGA-CV-7247-01A-11D-2012-08	6628966	140167413	57855017	22	52230											
HTR3D	200909	broad.mit.edu	37	chr3	183754191	183754191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacacctgcaggtctcatgGctagtatgtcaatagtgaag	12	10	11	8	0	2	2	2	1	1	1	3	2	2	2	1	2	1	3	1	2	5	3			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:183754191G>T	ENST00000382489.3	+	4	409	c.409G>T	c.(409-411)Gct>Tct	p.A137S	HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000334128.2_Missense_Mutation_p.A2S|HTR3D_ENST00000428798.2_Missense_Mutation_p.A76S	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	137						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGGTCTCATGGCTAGTATGTC	0.507													16	23					4.14922e-12	2.342e-11	1	0	T	183754191	G	T	183754191	3	4	293	1	0	0	0	0	1	0	0	0	7500	1203	42	4	520	4	HTR3D	3	183754191	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	43586778	183754191	14268239	23	52231											
PYDC2	152138	broad.mit.edu	37	chr3	191179054	191179054	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatcagaacaatctccCtgggaaaggagctacagacc	13	7	9	12	0	3	3	1	1	2	2	4	5	3	5	2	2	3	1	2	2	4	1			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:191179054C>A	ENST00000518817.1	+	1	103	c.103C>A	c.(103-105)Ctg>Atg	p.L35M		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	35	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AACAATCTCCCTGGGAAAGGA	0.537													10	96					7.48243e-07	3.95945e-06	1	0	A	191179054	C	A	191179054	3	1	293	1	0	0	0	0	1	0	0	0	12941	680	24	4	105	4	PYDC2	3	191179054	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	7424863	191179054	6843376	24	52232											
MUC20	200958	broad.mit.edu	37	chr3	195447901	195447901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgtctctggggtctggCtctgccccttttcttcttct	0	17	11	13	0	6	0	0	0	6	0	7	0	6	0	2	4	1	2	2	4	0	4			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr3:195447901C>G	ENST00000320736.6	+	1	149	c.23C>G	c.(22-24)gCt>gGt	p.A8G	MUC20_ENST00000485430.1_3'UTR|MUC20_ENST00000447234.2_Missense_Mutation_p.A8G|MUC20_ENST00000436408.1_Missense_Mutation_p.A8G	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	8					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TGGGGTCTGGCTCTGCCCCTT	0.617													2	7					0	0	0	0	G	195447901	C	G	195447901	3	3	293	1	0	0	0	0	1	0	0	0	10046	797	28	4	25	4	MUC20	3	195447901	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	4268847	195447901	2574529	25	52233											
SLC26A1	10861	broad.mit.edu	37	chr4	985266	985266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgccgatgaccagccCagacatgacgtcgcctgcca	10	6	11	14	3	0	4	0	3	0	1	1	6	0	4	5	0	3	0	5	0	0	0			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr4:985266C>A	ENST00000361661.2	-	3	603	c.226G>T	c.(226-228)Ggg>Tgg	p.G76W	SLC26A1_ENST00000398520.2_Missense_Mutation_p.G76W|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G76W|IDUA_ENST00000247933.4_Intron|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	76						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATGACCAGCCCAGACATGACG	0.662													5	88					0.000602214	0.00305925	1	0	A	985266	C	A	985266	3	1	293	1	0	0	0	0	1	0	0	0	14602	594	21	4	1990	4	SLC26A1	4	985266	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08		985266	190169010	26	52234											
PCDHB1	29930	broad.mit.edu	37	chr5	140432406	140432406	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgttaatgacaatcctccaAtatttcgggaagattcctat	13	13	6	9	2	0	2	0	1	0	1	4	3	3	3	3	1	0	1	3	1	6	5			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr5:140432406A>T	ENST00000306549.3	+	1	1428	c.1351A>T	c.(1351-1353)Ata>Tta	p.I451L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		451	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATCCTCCAATATTTCGGGA	0.423													9	60					0	0	0	0	T	140432406	A	T	140432406	3	4	293	1	0	0	0	0	1	0	0	0	11605	101	4	5	1353	5	PCDHB1	5	140432406	Missense_Mutation	SNP	A	TCGA-CV-7247-01A-11D-2012-08		140432406	40482854	27	52235											
HTR4	3360	broad.mit.edu	37	chr5	147845444	147845444	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagttagacaggaactggtCtattgcagaagagcaggagg	14	7	15	5	0	1	4	0	0	1	4	1	6	1	6	0	4	3	3	0	4	4	3			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr5:147845444C>G	ENST00000314512.6	-	7	1284	c.1121G>C	c.(1120-1122)aGa>aCa	p.R374T	HTR4_ENST00000521735.1_Missense_Mutation_p.R374T|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	AGGAACTGGTCTATTGCAGAA	0.443													5	144					0	0	0	0	G	147845444	C	G	147845444	3	3	293	1	0	0	0	0	1	0	0	0	7502	913	32	2	111	2	HTR4	5	147845444	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	7413038	147845444	33069816	28	52236											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199851	26199851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaggcggtgaccaaggCgcagaagaaggatggtaaga	17	3	15	6	2	0	4	0	1	0	3	0	5	0	5	1	5	0	2	1	5	6	1			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr6:26199851C>T	ENST00000359985.1	+	1	104	c.65C>T	c.(64-66)gCg>gTg	p.A22V		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	22					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				GTGACCAAGGCGCAGAAGAAG	0.517													23	117					0	0	0	0	T	26199851	C	T	26199851	3	4	293	1	0	0	0	0	1	0	0	0	7195	768	27	1	67	1	HIST1H2BF	6	26199851	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08		26199851	144915216	29	52237											
BCKDHB	594	broad.mit.edu	37	chr6	80878708	80878708	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggctctctatcattctcaGagtcctgaagcattttttgc	7	15	9	10	0	3	2	2	1	2	1	6	2	4	2	1	2	2	2	1	2	2	5			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr6:80878708G>A	ENST00000545529.1	+	5	622	c.594G>A	c.(592-594)caG>caA	p.Q198Q	BCKDHB_ENST00000320393.6_Silent_p.Q198Q|BCKDHB_ENST00000369760.4_Silent_p.Q198Q|BCKDHB_ENST00000356489.5_Silent_p.Q198Q			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	198					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATCATTCTCAGAGTCCTGAAG	0.423													7	81					0	0	0	0	A	80878708	G	A	80878708	2	1	293	1	0	0	0	0	0	0	0	1	1364	933	33	2		2	BCKDHB	6	80878708	Silent	SNP	G	TCGA-CV-7247-01A-11D-2012-08	54678857	80878708	90236359	30	52238											
DOPEY1	23033	broad.mit.edu	37	chr6	83834513	83834513	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttctgcttactggtggAttttttgttggacatagttt	7	20	9	5	0	1	0	0	0	1	0	1	2	1	2	0	3	2	3	0	3	3	8			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr6:83834513A>T	ENST00000349129.2	+	13	1690	c.1430A>T	c.(1429-1431)gAt>gTt	p.D477V	DOPEY1_ENST00000369739.3_Missense_Mutation_p.D468V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.D468V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	477					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTACTGGTGGATTTTTTGTTG	0.393													26	57					0	0	0	0	T	83834513	A	T	83834513	3	4	293	1	0	0	0	0	1	0	0	0	4743	333	12	5	1472	5	DOPEY1	6	83834513	Missense_Mutation	SNP	A	TCGA-CV-7247-01A-11D-2012-08	2955805	83834513	87280554	31	52239											
UNC93A	54346	broad.mit.edu	37	chr6	167721317	167721317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctactgctgtggagacctCgtgctgaccatctggcagtg	6	10	12	13	1	1	2	0	1	1	1	2	3	1	2	3	2	3	3	3	2	1	1			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr6:167721317C>T	ENST00000230256.3	+	7	1202	c.1027C>T	c.(1027-1029)Cgt>Tgt	p.R343C	UNC93A_ENST00000366829.2_Missense_Mutation_p.R301C	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	343						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTGGAGACCTCGTGCTGACCA	0.617													7	63					0	0	0	0	T	167721317	C	T	167721317	3	4	293	1	0	0	0	0	1	0	0	0	17092	884	31	1	1053	1	UNC93A	6	167721317	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	83886804	167721317	3393750	32	52240											
THSD7A	221981	broad.mit.edu	37	chr7	11468652	11468652	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccatttagaacgaaccttCacaccactcccacaggactt	13	8	5	15	1	1	1	1	0	0	1	2	3	2	2	4	1	3	0	4	1	3	4			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:11468652C>G	ENST00000423059.3	-	14	3416	c.3165G>C	c.(3163-3165)gtG>gtC	p.V1055V	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1055	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AACGAACCTTCACACCACTCC	0.517										HNSCC(18;0.044)			17	317					0	0	0	0	G	11468652	C	G	11468652	2	3	293	1	0	0	0	0	0	0	0	1	15973	813	29	2		2	THSD7A	7	11468652	Silent	SNP	C	TCGA-CV-7247-01A-11D-2012-08		11468652	147670011	33	52241											
LMTK2	22853	broad.mit.edu	37	chr7	97820131	97820132	+	Frame_Shift_Del	DEL	AG	AG	-																															atgtcctcaaccaagtcattAgagagagagacacaaaactc																										TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:97820131_97820132delAG	ENST00000297293.5	+	10	1383_1384	c.1090_1091delAG	c.(1090-1092)afs	p.R364fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	364	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAAGTCATTAGAGAGAGAGAC	0.495													9	1358	---	---	---	---					-	97820132	AG	-	97820131	7	5	293	1	0	1	0	1	0	0	0	0	8914	412	15	0	1128	0	LMTK2	7	97820131	Frame_Shift_Del	DEL	AG	TCGA-CV-7247-01A-11D-2012-08	86351479	97820131	61318532	34	52242											
SRRT	51593	broad.mit.edu	37	chr7	100483362	100483362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttatgcgggtggcgctctCagagccccagccagagagga	8	7	14	12	2	1	2	1	0	1	2	2	4	1	3	3	3	3	1	3	3	1	2			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:100483362C>T	ENST00000388793.4	+	11	1575	c.1355C>T	c.(1354-1356)tCa>tTa	p.S452L	SRRT_ENST00000457580.2_Missense_Mutation_p.S453L|SRRT_ENST00000347433.4_Missense_Mutation_p.S453L|SRRT_ENST00000432932.1_Missense_Mutation_p.S452L	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	453					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GTGGCGCTCTCAGAGCCCCAG	0.537													18	99					0	0	0	0	T	100483362	C	T	100483362	3	4	293	1	0	0	0	0	1	0	0	0	15262	838	29	2	1396	2	SRRT	7	100483362	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	2663231	100483362	58655301	35	52243											
CPA4	51200	broad.mit.edu	37	chr7	129948151	129948151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggctttttcagaaccGattatggaggaagacgcggt	9	12	14	6	3	1	2	1	0	0	2	1	5	1	4	1	5	1	1	1	5	3	4			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:129948151G>T	ENST00000222482.4	+	8	735	c.707G>T	c.(706-708)cGa>cTa	p.R236L	CPA4_ENST00000445470.2_Missense_Mutation_p.R203L|CPA4_ENST00000493259.1_Missense_Mutation_p.R132L	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	236					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TTTCAGAACCGATTATGGAGG	0.557													18	44					6.94344e-10	3.83399e-09	1	0	T	129948151	G	T	129948151	3	4	293	1	0	0	0	0	1	0	0	0	3822	1058	37	3	737	3	CPA4	7	129948151	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	29464789	129948151	29190512	36	52244											
SSPO	23145	broad.mit.edu	37	chr7	149488643	149488643	+	RNA	DEL	C	C	-																															cagggttgtggggcctggggCccctggagcccatgggggcc																										TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr7:149488643delC	ENST00000378016.2	+	0	5094							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCCTGGGGCCCCTGGAGCC	0.721													2	4	---	---	---	---					-	149488643	C	-	149488643	6	5	293	0	1	1	0	1	0	0	0	0	15279	726	26	0		0	SSPO	7	149488643	RNA	DEL	C	TCGA-CV-7247-01A-11D-2012-08	19540492	149488643	9650020	37	52245											
FAM110B	90362	broad.mit.edu	37	chr8	59059406	59059406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcggacatccgcaaggTgaccagcgtgaagcccctca	9	7	10	15	3	2	2	1	2	1	0	4	3	3	3	4	2	2	1	4	2	2	1			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr8:59059406T>C	ENST00000361488.3	+	5	1497	c.617T>C	c.(616-618)gTg>gCg	p.V206A	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	206						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				ATCCGCAAGGTGACCAGCGTG	0.657													11	72					0	0	0	0	C	59059406	T	C	59059406	3	2	293	1	0	0	0	0	1	0	0	0	5438	1696	59	5	619	5	FAM110B	8	59059406	Missense_Mutation	SNP	T	TCGA-CV-7247-01A-11D-2012-08		59059406	87304616	38	52246											
SULF1	23213	broad.mit.edu	37	chr8	70536227	70536227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacacgttccttgtccgtcGaatttgaaggtgaaatatat	12	13	9	7	3	0	3	0	2	0	1	3	4	2	3	2	1	0	1	2	1	5	5			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr8:70536227G>A	ENST00000260128.4	+	15	2362	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	SULF1_ENST00000458141.2_Missense_Mutation_p.E549K|SULF1_ENST00000402687.4_Missense_Mutation_p.E549K|SULF1_ENST00000419716.3_Missense_Mutation_p.E549K|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	549					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTTGTCCGTCGAATTTGAAGG	0.408													11	63					0	0	0	0	A	70536227	G	A	70536227	3	1	293	1	0	0	0	0	1	0	0	0	15460	1059	37	1	1687	1	SULF1	8	70536227	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	11476821	70536227	75827795	39	52247											
PTDSS1	9791	broad.mit.edu	37	chr8	97318687	97318687	+	Frame_Shift_Del	DEL	A	A	-																															ttcagctgactgagttgaatAccttcttcttgaagcatatc																										TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr8:97318687delA	ENST00000517309.1	+	8	1236	c.910delA	c.(910-912)ccfs	p.T304fs	PTDSS1_ENST00000455950.2_Frame_Shift_Del_p.T158fs|PTDSS1_ENST00000522072.1_Frame_Shift_Del_p.T101fs	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	304					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TGAGTTGAATACCTTCTTCTT	0.393													67	92	---	---	---	---					-	97318687	A	-	97318687	7	5	293	1	0	1	0	1	0	0	0	0	12815	391	14	0	940	0	PTDSS1	8	97318687	Frame_Shift_Del	DEL	A	TCGA-CV-7247-01A-11D-2012-08	26782460	97318687	49045335	40	52248											
TEK	7010	broad.mit.edu	37	chr9	27220088	27220088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacttgtgcagaactctacGagaagctgccccagggctac	10	8	11	12	1	1	3	0	1	1	2	1	4	1	3	2	1	6	3	2	1	4	3			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr9:27220088G>A	ENST00000380036.4	+	21	3587	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	TEK_ENST00000406359.4_Missense_Mutation_p.E1006K|TEK_ENST00000519097.1_Missense_Mutation_p.E901K	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1049	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AGAACTCTACGAGAAGCTGCC	0.532													6	96					0	0	0	0	A	27220088	G	A	27220088	3	1	293	1	0	0	0	0	1	0	0	0	15845	1059	37	1	3227	1	TEK	9	27220088	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08		27220088	113993343	41	52249											
ASPN	54829	broad.mit.edu	37	chr9	95236914	95236914	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatattcttacctaaatctGagcaatgtacaactcgtgaa	14	14	5	8	1	2	2	0	2	2	0	3	2	2	2	1	0	4	2	1	0	9	6			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr9:95236914G>C	ENST00000375544.3	-	2	509	c.266C>G	c.(265-267)tCa>tGa	p.S89*	ASPN_ENST00000375543.1_Nonsense_Mutation_p.S89*|ASPN_ENST00000395538.3_Nonsense_Mutation_p.S89*|ASPN_ENST00000450139.2_Nonsense_Mutation_p.S61*|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	89	Cys-rich.|LRRNT.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	p.S89*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						ACCTAAATCTGAGCAATGTAC	0.323													4	26					0	0	0	0	C	95236914	G	C	95236914	4	2	293	1	0	0	0	0	0	1	0	0	1061	1294	45	2	904	2	ASPN	9	95236914	Nonsense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	68016826	95236914	45976517	42	52250											
TNKS2	80351	broad.mit.edu	37	chr10	93602105	93602105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcctgataatgtaaattgCcgcgatacccaaggcagaca	13	9	8	11	2	1	2	0	1	1	1	2	3	1	2	3	1	2	2	3	1	5	4			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr10:93602105C>T	ENST00000371627.4	+	16	2395	c.2016C>T	c.(2014-2016)tgC>tgT	p.C672C		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	672					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ATGTAAATTGCCGCGATACCC	0.418													4	44					0	0	0	0	T	93602105	C	T	93602105	2	4	293	1	0	0	0	0	0	0	0	1	16415	747	26	4		4	TNKS2	10	93602105	Silent	SNP	C	TCGA-CV-7247-01A-11D-2012-08		93602105	41932642	43	52251											
PDE6C	5146	broad.mit.edu	37	chr10	95386572	95386572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccccaaggacgcctcctGcagaccactggacactcatt	9	8	7	17	1	1	1	1	0	0	1	3	3	3	3	5	2	1	1	5	2	1	2			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr10:95386572G>T	ENST00000371447.3	+	7	1153	c.1015G>T	c.(1015-1017)Gca>Tca	p.A339S		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	339	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GACGCCTCCTGCAGACCACTG	0.378													6	39					8.12818e-05	0.000421339	1	0	T	95386572	G	T	95386572	3	4	293	1	0	0	0	0	1	0	0	0	11718	1319	46	4	1041	4	PDE6C	10	95386572	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	1784467	95386572	40148175	44	52252											
C10orf95	79946	broad.mit.edu	37	chr10	104210810	104210810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgcggcggcggcggcCagacgccctgtttgggcggc	3	5	19	14	6	0	1	0	0	0	1	0	1	0	1	2	6	2	3	2	6	0	1			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr10:104210810C>T	ENST00000239125.1	-	2	252	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000492465.2_RNA	NM_024886.1	NP_079162.1	Q9H7T3	CJ095_HUMAN	chromosome 10 open reading frame 95	60	Arg/Pro-rich.									liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		CGGCGGCGGCCAGACGCCCTG	0.716													7	16					0	0	0	0	T	104210810	C	T	104210810	3	4	293	1	0	0	0	0	1	0	0	0	1636	594	21	4	599	4	C10orf95	10	104210810	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	8824238	104210810	31323937	45	52253											
STK33	65975	broad.mit.edu	37	chr11	8414255	8414255	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattgcttttcataagcagtAgactgcaaataaaaggtctt	15	13	7	6	0	2	1	1	0	1	1	2	1	2	1	0	1	3	4	0	1	6	7			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:8414255A>C	ENST00000447869.1	-	12	2265	c.1347T>G	c.(1345-1347)tcT>tcG	p.S449S	STK33_ENST00000315204.1_Silent_p.S449S|STK33_ENST00000396672.1_Silent_p.S449S|STK33_ENST00000396673.1_Silent_p.S383S|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000534493.1_Silent_p.S408S|STK33_ENST00000358872.3_Silent_p.S262S			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	449						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CATAAGCAGTAGACTGCAAAT	0.378													28	49					0	0	0	0	C	8414255	A	C	8414255	2	2	293	1	0	0	0	0	0	0	0	1	15390	407	15	5		5	STK33	11	8414255	Silent	SNP	A	TCGA-CV-7247-01A-11D-2012-08		8414255	126592261	46	52254											
EIF4G2	1982	broad.mit.edu	37	chr11	10821256	10821260	+	Frame_Shift_Del	DEL	CCTTT	CCTTT	-																															tgggaataagaaactcagtcCctttccttccaaaatctcca																										TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:10821256_10821260delCCTTT	ENST00000526148.1	-	19	2673_2677	c.2163_2167delAAAGG	c.(2161-2169)gggafs	p.GKG721fs	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Frame_Shift_Del_p.GKG683fs|EIF4G2_ENST00000525681.1_Frame_Shift_Del_p.GKG721fs|EIF4G2_ENST00000339995.5_Frame_Shift_Del_p.GKG721fs	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	721	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAACTCAGTCCCTTTCCTTCCAAAA	0.385													10	46	---	---	---	---					-	10821260	CCTTT	-	10821256	7	5	293	1	0	1	0	1	0	0	0	0	5075	632	22	0	572	0	EIF4G2	11	10821256	Frame_Shift_Del	DEL	CCTTT	TCGA-CV-7247-01A-11D-2012-08	2407001	10821256	124185260	47	52255											
TRIM48	79097	broad.mit.edu	37	chr11	55032644	55032644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggctattcctgagctctGaggagcaaatgtgtggcatt	8	13	12	8	0	2	2	0	2	2	0	3	3	3	3	1	3	2	4	1	3	2	3			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:55032644G>A	ENST00000417545.2	+	2	399	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	89						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTGAGCTCTGAGGAGCAAAT	0.483													8	61					0	0	0	0	A	55032644	G	A	55032644	3	1	293	1	0	0	0	0	1	0	0	0	16618	1291	45	2	319	2	TRIM48	11	55032644	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	44211388	55032644	79973872	48	52256											
OR4C6	219432	broad.mit.edu	37	chr11	55433284	55433284	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttcttatcttaattgcGtcctacacggtcatcctatg	8	17	5	11	2	4	0	1	0	3	0	6	0	6	0	2	1	2	0	2	1	4	6			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr11:55433284G>A	ENST00000314259.3	+	1	671	c.642G>A	c.(640-642)gcG>gcA	p.A214A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTTAATTGCGTCCTACACGG	0.517													30	86					0	0	0	0	A	55433284	G	A	55433284	2	1	293	1	0	0	0	0	0	0	0	1	11123	1132	40	1		1	OR4C6	11	55433284	Silent	SNP	G	TCGA-CV-7247-01A-11D-2012-08	400640	55433284	79573232	49	52257											
CACNA1C	775	broad.mit.edu	37	chr12	2224421	2224421	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcccacgccccgcccaTgccaacatgaatgccaatgc	10	4	10	17	2	0	1	0	1	0	0	0	2	0	2	6	1	5	0	6	1	3	0			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:2224421T>A	ENST00000399655.1	+	2	346	c.81T>A	c.(79-81)caT>caA	p.H27Q	CACNA1C_ENST00000399595.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.H27Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000480911.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.H27Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	27					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCCCCGCCCATGCCAACATGA	0.622													6	9					0	0	0	0	A	2224421	T	A	2224421	3	1	293	1	0	0	0	0	1	0	0	0	2565	1461	51	5	87	5	CACNA1C	12	2224421	Missense_Mutation	SNP	T	TCGA-CV-7247-01A-11D-2012-08		2224421	131627474	50	52258											
ETV6	2120	broad.mit.edu	37	chr12	12022466	12022466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctatcacgacaaatcaccGgccttctcctgaccccgagc	10	7	6	18	3	3	1	2	1	1	0	4	3	3	1	6	1	1	0	6	1	2	2			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:12022466G>A	ENST00000396373.4	+	5	846	c.572G>A	c.(571-573)cGg>cAg	p.R191Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	191						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ACAAATCACCGGCCTTCTCCT	0.642			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								56	336					0	0	0	0	A	12022466	G	A	12022466	3	1	293	1	0	0	0	0	1	0	0	0	5321	1116	39	1	590	1	ETV6	12	12022466	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	9798045	12022466	121829429	51	52259											
PDE3A	5139	broad.mit.edu	37	chr12	20832977	20832977	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttagaaaagaagactttCaaaaggagaaaaatctactg	20	10	7	4	0	2	4	1	0	1	4	2	5	2	4	0	1	1	0	0	1	9	4			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:20832977C>G	ENST00000359062.3	+	16	3238	c.3198C>G	c.(3196-3198)ttC>ttG	p.F1066L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1066	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AGAAGACTTTCAAAAGGAGAA	0.358													7	57					0	0	0	0	G	20832977	C	G	20832977	3	3	293	1	0	0	0	0	1	0	0	0	11708	825	29	2	3260	2	PDE3A	12	20832977	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	8810511	20832977	113018918	52	52260											
ABCC9	10060	broad.mit.edu	37	chr12	21967641	21967641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatttcccactgccagtgcGaccacatatgcccacctagg	9	9	8	15	1	0	1	0	1	0	0	1	2	1	1	5	1	3	0	5	1	2	3			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:21967641G>A	ENST00000261200.4	-	33	4038	c.4039C>T	c.(4039-4041)Cgc>Tgc	p.R1347C	ABCC9_ENST00000261201.4_Missense_Mutation_p.R1347C|ABCC9_ENST00000345162.2_Missense_Mutation_p.R1311C	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1347	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGCCAGTGCGACCACATATG	0.388													8	47					0	0	0	0	A	21967641	G	A	21967641	3	1	293	1	0	0	0	0	1	0	0	0	59	1058	37	1	776	1	ABCC9	12	21967641	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	1134664	21967641	111884254	53	52261											
PAN2	9924	broad.mit.edu	37	chr12	56717351	56717351	+	Frame_Shift_Del	DEL	T	T	-																															cacaattgatgacaagaataTctggcagatggcggatgttg																								rs138946880		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:56717351delT	ENST00000425394.2	-	15	2592	c.2216delA	c.(2215-2217)gtfs	p.D739fs	PAN2_ENST00000548043.1_Frame_Shift_Del_p.D739fs|PAN2_ENST00000440411.3_Frame_Shift_Del_p.D735fs|PAN2_ENST00000257931.5_Frame_Shift_Del_p.D738fs	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	739					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GACAAGAATATCTGGCAGATG	0.488													26	49	---	---	---	---					-	56717351	T	-	56717351	7	5	293	1	0	1	0	1	0	0	0	0	11485	1435	50	0	1440	0	PAN2	12	56717351	Frame_Shift_Del	DEL	T	TCGA-CV-7247-01A-11D-2012-08	34749710	56717351	77134544	54	52262											
RASAL1	8437	broad.mit.edu	37	chr12	113537802	113537802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaactcctcgtgggcacgatCcaggtctgcgagcacctcca	8	7	11	15	3	1	0	0	0	1	0	5	3	4	0	4	2	3	2	4	2	1	0			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr12:113537802C>A	ENST00000546530.1	-	22	2638	c.2353G>T	c.(2353-2355)Gat>Tat	p.D785Y	RASAL1_ENST00000446861.3_Missense_Mutation_p.D755Y|RASAL1_ENST00000261729.5_Missense_Mutation_p.D783Y|RASAL1_ENST00000548055.1_Missense_Mutation_p.D784Y	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	783					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGGGCACGATCCAGGTCTGCG	0.677													13	34					5.50884e-06	2.88504e-05	1	0	A	113537802	C	A	113537802	3	1	293	1	0	0	0	0	1	0	0	0	13145	855	30	2	71	2	RASAL1	12	113537802	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	56820451	113537802	20314093	55	52263											
DIS3	22894	broad.mit.edu	37	chr13	73346872	73346872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctttggcagaaaactaaGaacagcctgtgaaaaaggct	16	8	9	8	0	1	3	0	1	1	2	1	3	1	3	1	2	3	2	1	2	6	2			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr13:73346872G>A	ENST00000377767.4	-	9	1445	c.1345C>T	c.(1345-1347)Ctt>Ttt	p.L449F	DIS3_ENST00000545453.1_Missense_Mutation_p.L287F|DIS3_ENST00000377780.4_Missense_Mutation_p.L419F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	449					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AGAAAACTAAGAACAGCCTGT	0.363										Multiple Myeloma(4;0.011)			4	98					0	0	0	0	A	73346872	G	A	73346872	3	1	293	1	0	0	0	0	1	0	0	0	4572	942	33	2	1583	2	DIS3	13	73346872	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08		73346872	41823006	56	52264											
PCCA	5095	broad.mit.edu	37	chr13	100861712	100861712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggctttgatggagtaGtcaaggtgagaagctacttt	9	13	12	7	0	1	2	1	2	0	1	2	4	2	3	1	3	2	3	1	3	4	4			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr13:100861712G>A	ENST00000376285.1	+	7	633	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	PCCA_ENST00000376279.3_Missense_Mutation_p.V199I|PCCA_ENST00000376286.4_Missense_Mutation_p.V173I	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	199	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGATGGAGTAGTCAAGGTGAG	0.338													10	63					0	0	0	0	A	100861712	G	A	100861712	3	1	293	1	0	0	0	0	1	0	0	0	11575	1029	36	4	621	4	PCCA	13	100861712	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	27514840	100861712	14308166	57	52265											
MYH7	4625	broad.mit.edu	37	chr14	23887505	23887505	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctccgagttggccttggaAaggacgcgctgcagctcggc	7	7	14	13	4	0	0	0	0	0	0	2	3	1	2	3	4	2	4	3	4	1	2			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr14:23887505A>C	ENST00000355349.3	-	30	4245	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1361					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1361L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTTGGAAAGGACGCGCT	0.652													3	85					0	0	0	0	C	23887505	A	C	23887505	2	2	293	1	0	0	0	0	0	0	0	1	10109	1	1	5		5	MYH7	14	23887505	Silent	SNP	A	TCGA-CV-7247-01A-11D-2012-08		23887505	83462035	58	52266											
HECTD1	25831	broad.mit.edu	37	chr14	31597034	31597034	+	Frame_Shift_Del	DEL	G	G	-																															tgacctgtgtcactctcactGgaagttgatgtgaggctggt																										TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr14:31597034delG	ENST00000399332.1	-	26	5426	c.4938delC	c.(4936-4938)tcfs	p.S1647fs	HECTD1_ENST00000553700.1_Frame_Shift_Del_p.S1647fs	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1647	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CACTCTCACTGGAAGTTGATG	0.353													17	80	---	---	---	---					-	31597034	G	-	31597034	7	5	293	1	0	1	0	1	0	0	0	0	7089	1335	47	0	2966	0	HECTD1	14	31597034	Frame_Shift_Del	DEL	G	TCGA-CV-7247-01A-11D-2012-08	7709529	31597034	75752506	59	52267											
NEIL1	79661	broad.mit.edu	37	chr15	75641409	75641409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagcttcagcccgcggcaagGagctgcgcctgatactgagc	8	6	13	14	3	1	2	1	2	0	0	1	3	1	3	2	2	6	3	2	2	2	2			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr15:75641409G>A	ENST00000564784.1	+	3	792	c.163G>A	c.(163-165)Gag>Aag	p.E55K	NEIL1_ENST00000569035.1_Missense_Mutation_p.E55K|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000355059.4_Missense_Mutation_p.E55K			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	55					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						CCGCGGCAAGGAGCTGCGCCT	0.647								Base excision repair (BER), DNA glycosylases					4	49					0	0	0	0	A	75641409	G	A	75641409	3	1	293	1	0	0	0	0	1	0	0	0	10388	1175	41	2	165	2	NEIL1	15	75641409	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08		75641409	26889983	60	52268											
KIAA1024	23251	broad.mit.edu	37	chr15	79750590	79750590	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcgggtcaaggccttaaaaAaaagcctcttcaccaggcca	13	7	9	12	1	3	0	2	0	1	0	3	0	3	0	4	3	2	0	4	3	5	2			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr15:79750590A>T	ENST00000305428.3	+	2	2176	c.2101A>T	c.(2101-2103)Aaa>Taa	p.K701*		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	701						integral to membrane		p.K701*(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGCCTTAAAAAAAAGCCTCTT	0.552													12	108					0	0	0	0	T	79750590	A	T	79750590	4	4	293	1	0	0	0	0	0	1	0	0	8256	15	1	5	2103	5	KIAA1024	15	79750590	Nonsense_Mutation	SNP	A	TCGA-CV-7247-01A-11D-2012-08	4109181	79750590	22780802	61	52269											
PKD1	5310	broad.mit.edu	37	chr16	2159543	2159543	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaggttgtacgtggctgaGacccagctgactgcgttgga	7	10	16	8	2	0	3	0	3	0	1	0	5	0	4	1	3	3	5	1	3	1	3			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr16:2159543G>C	ENST00000262304.4	-	15	5833	c.5625C>G	c.(5623-5625)gtC>gtG	p.V1875V	PKD1_ENST00000423118.1_Silent_p.V1875V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1875	PKD 14.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACGTGGCTGAGACCCAGCTGA	0.652													8	13					0	0	0	0	C	2159543	G	C	2159543	2	2	293	1	0	0	0	0	0	0	0	1	12035	929	33	2		2	PKD1	16	2159543	Silent	SNP	G	TCGA-CV-7247-01A-11D-2012-08		2159543	88195210	62	52270											
ALG1	56052	broad.mit.edu	37	chr16	5127458	5127458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcaggtacgagaagttCtttgggcgcctgtcccacct	6	13	10	12	2	2	1	1	0	1	1	3	2	3	1	3	2	1	2	3	2	2	5			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr16:5127458C>A	ENST00000588623.1	+	6	1319	c.219C>A	c.(217-219)ttC>ttA	p.F73L	ALG1_ENST00000262374.5_Missense_Mutation_p.F184L|ALG1_ENST00000544428.1_Missense_Mutation_p.F73L			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	184					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				ACGAGAAGTTCTTTGGGCGCC	0.552													19	100					1.01871e-10	5.68688e-10	1	0	A	5127458	C	A	5127458	3	1	293	1	0	0	0	0	1	0	0	0	510	912	32	2	570	2	ALG1	16	5127458	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	2967915	5127458	85227295	63	52271											
RNF40	9810	broad.mit.edu	37	chr16	30779808	30779808	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggtggaagaaaccaagCggaaggaatcagaactcctc	16	4	11	10	1	1	2	1	0	0	2	3	5	2	5	3	4	3	0	3	4	7	0			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr16:30779808C>A	ENST00000324685.6	+	13	2371	c.1936C>A	c.(1936-1938)Cgg>Agg	p.R646R	RNF40_ENST00000563683.1_Silent_p.R606R|RNF40_ENST00000402121.3_Silent_p.R338R|RNF40_ENST00000357890.5_Silent_p.R546R	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	646					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AGAAACCAAGCGGAAGGAATC	0.597													4	75					0.00024832	0.00127421	1	0	A	30779808	C	A	30779808	2	1	293	1	0	0	0	0	0	0	0	1	13578	759	27	3		3	RNF40	16	30779808	Silent	SNP	C	TCGA-CV-7247-01A-11D-2012-08	25652350	30779808	59574945	64	52272											
ANKRD11	29123	broad.mit.edu	37	chr16	89348419	89348419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgtctttgagcacgcgggGcgggctgtccttgtccctgg	2	12	15	12	3	1	1	0	1	1	0	3	1	3	1	2	4	1	2	2	4	0	3			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr16:89348419G>A	ENST00000301030.4	-	9	4991	c.4531C>T	c.(4531-4533)Ccc>Tcc	p.P1511S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1511S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1511	Lys-rich.					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)		AGCACGCGGGGCGGGCTGTCC	0.632													4	66					0	0	0	0	A	89348419	G	A	89348419	3	1	293	1	0	0	0	0	1	0	0	0	639	1203	42	4	3480	4	ANKRD11	16	89348419	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	58568611	89348419	1006334	65	52273											
TP53	7157	broad.mit.edu	37	chr17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggccagttggcaaaacatCttgttgagggcaggggagta	10	10	15	6	0	1	1	0	1	1	0	1	2	1	2	1	5	1	5	1	5	3	5			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:7578534C>G	ENST00000420246.2	-	5	528	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAAAACATCTTGTTGAGGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	15					0	0	0	0	G	7578534	C	G	7578534	3	3	293	1	0	0	0	0	1	0	0	0	16476	912	32	2	902	2	TP53	17	7578534	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08		7578534	73616676	66	52274											
MYH2	4620	broad.mit.edu	37	chr17	10447033	10447033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccaagagacttacaaagcGagaggagttgtcattcctca	13	9	10	9	1	2	2	2	0	0	2	4	5	4	3	2	1	2	1	2	1	3	3			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:10447033G>A	ENST00000245503.5	-	8	1120	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	MYH2_ENST00000532183.1_Missense_Mutation_p.R246C|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R246C	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	246	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTACAAAGCGAGAGGAGTTG	0.448													6	54					0	0	0	0	A	10447033	G	A	10447033	3	1	293	1	0	0	0	0	1	0	0	0	10105	1058	37	1	5221	1	MYH2	17	10447033	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	2868499	10447033	70748177	67	52275											
TOP2A	7153	broad.mit.edu	37	chr17	38552685	38552685	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttcccaggaagtccgacTtgttcatcttgtttttcctt	5	18	6	12	1	2	0	1	0	1	0	5	2	5	1	4	1	0	2	4	1	1	7			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:38552685T>G	ENST00000423485.1	-	28	3728	c.3570A>C	c.(3568-3570)caA>caC	p.Q1190H		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1190					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GAAGTCCGACTTGTTCATCTT	0.413													12	108					0	0	0	0	G	38552685	T	G	38552685	3	3	293	1	0	0	0	0	1	0	0	0	16460	1606	56	5	1057	5	TOP2A	17	38552685	Missense_Mutation	SNP	T	TCGA-CV-7247-01A-11D-2012-08	28105652	38552685	42642525	68	52276											
STXBP4	252983	broad.mit.edu	37	chr17	53158448	53158448	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcttctcagacttccctcAcaccactgggaaggaatgga	11	9	9	12	0	2	1	2	0	1	1	4	4	3	4	2	3	1	1	2	3	3	3			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:53158448A>C	ENST00000376352.2	+	16	1600	c.1393A>C	c.(1393-1395)Aca>Cca	p.T465P	STXBP4_ENST00000434978.2_Missense_Mutation_p.T443P	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	465						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GACTTCCCTCACACCACTGGG	0.393													4	47					0	0	0	0	C	53158448	A	C	53158448	3	2	293	1	0	0	0	0	1	0	0	0	15445	159	6	5	1447	5	STXBP4	17	53158448	Missense_Mutation	SNP	A	TCGA-CV-7247-01A-11D-2012-08	14605763	53158448	28036762	69	52277											
STRADA	92335	broad.mit.edu	37	chr17	61781730	61781730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggttgcgctgaaggcactgCtccacaaagtggtggaagtg	9	8	16	8	1	0	1	0	1	0	0	1	2	1	2	1	4	2	4	1	4	3	1			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:61781730C>A	ENST00000392950.4	-	9	1233	c.960G>T	c.(958-960)gaG>gaT	p.E320D	STRADA_ENST00000582137.1_Intron|STRADA_ENST00000447001.3_Intron|STRADA_ENST00000375840.4_Missense_Mutation_p.E299D|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000580039.1_5'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000336174.6_Missense_Mutation_p.E357D	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	357	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GAAGGCACTGCTCCACAAAGT	0.662													4	25					0.00116845	0.00576282	1	0	A	61781730	C	A	61781730	3	1	293	1	0	0	0	0	1	0	0	0	15414	796	28	4	294	4	STRADA	17	61781730	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	8623282	61781730	19413480	70	52278											
AXIN2	8313	broad.mit.edu	37	chr17	63526139	63526139	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatccggccttcatacatCgggagcaccgtctcatcctc	9	9	8	15	3	2	1	2	0	1	1	7	2	4	2	4	2	2	1	4	2	2	2			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:63526139C>T	ENST00000307078.5	-	11	2800	c.2487G>A	c.(2485-2487)ccG>ccA	p.P829P	AXIN2_ENST00000375702.5_Silent_p.P764P	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	829	DIX.				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CTTCATACATCGGGAGCACCG	0.507									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				15	88					0	0	0	0	T	63526139	C	T	63526139	2	4	293	1	0	0	0	0	0	0	0	1	1241	871	31	1		1	AXIN2	17	63526139	Silent	SNP	C	TCGA-CV-7247-01A-11D-2012-08	1744409	63526139	17669071	71	52279											
GPS1	2873	broad.mit.edu	37	chr17	80013938	80013938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccttggctacctttgaccGgcaggagctgcagcgcaatg	7	8	13	13	3	0	1	0	1	0	0	0	2	0	2	3	3	4	5	3	3	2	3			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr17:80013938G>A	ENST00000392358.2	+	8	1365	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	GPS1_ENST00000355130.2_Missense_Mutation_p.R339Q|GPS1_ENST00000320548.4_Missense_Mutation_p.R283Q|GPS1_ENST00000578552.1_Missense_Mutation_p.R299Q|GPS1_ENST00000306823.6_Missense_Mutation_p.R303Q	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	303	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			ACCTTTGACCGGCAGGAGCTG	0.657													4	29					0	0	0	0	A	80013938	G	A	80013938	3	1	293	1	0	0	0	0	1	0	0	0	6782	1116	39	1	1095	1	GPS1	17	80013938	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08	16487799	80013938	1181272	72	52280											
LAMA1	284217	broad.mit.edu	37	chr18	7043287	7043287	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattcccatggtgttctgcAagcaatttatgcaaacccct	10	13	7	11	0	1	1	0	1	1	0	2	1	2	1	3	1	4	4	3	1	4	4			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr18:7043287A>C	ENST00000389658.3	-	8	1187	c.1094T>G	c.(1093-1095)tTg>tGg	p.L365W		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	365	Laminin EGF-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGTTCTGCAAGCAATTTAT	0.388													58	145					0	0	0	0	C	7043287	A	C	7043287	3	2	293	1	0	0	0	0	1	0	0	0	8658	131	5	5	8357	5	LAMA1	18	7043287	Missense_Mutation	SNP	A	TCGA-CV-7247-01A-11D-2012-08		7043287	71033961	73	52281											
DCC	1630	broad.mit.edu	37	chr18	50977000	50977000	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggtcatcgtggctgtgatTtgcacccgacgctcttcagc	5	12	12	12	3	3	1	2	1	1	0	4	2	3	1	1	2	2	3	1	2	0	2			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr18:50977000T>G	ENST00000442544.2	+	23	3976	c.3360T>G	c.(3358-3360)atT>atG	p.I1120M	DCC_ENST00000581580.1_Missense_Mutation_p.I755M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1120					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGCTGTGATTTGCACCCGAC	0.488													6	36					0	0	0	0	G	50977000	T	G	50977000	3	3	293	1	0	0	0	0	1	0	0	0	4314	1829	64	5	3450	5	DCC	18	50977000	Missense_Mutation	SNP	T	TCGA-CV-7247-01A-11D-2012-08	43933713	50977000	27100248	74	52282											
AP3D1	8943	broad.mit.edu	37	chr19	2121250	2121250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcacggtaggtggtaccctCtgccttgtctacgtgggtca	5	12	13	11	2	4	0	2	0	2	0	4	0	4	0	2	4	3	2	2	4	3	4			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:2121250C>T	ENST00000355272.6	-	13	1368	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000356926.4_Missense_Mutation_p.E297K|AP3D1_ENST00000345016.5_Missense_Mutation_p.E388K|AP3D1_ENST00000350812.6_Missense_Mutation_p.E219K	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	388					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GTGGTACCCTCTGCCTTGTCT	0.542													6	69					0	0	0	0	T	2121250	C	T	2121250	3	4	293	1	0	0	0	0	1	0	0	0	747	922	32	2	2529	2	AP3D1	19	2121250	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08		2121250	57007733	75	52283											
ZNF823	55552	broad.mit.edu	37	chr19	11832973	11832973	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagttgtctcatgatttTgaaaggaagagagatcacta	13	13	11	4	0	2	5	2	3	1	2	3	7	2	6	0	1	0	1	0	1	3	4			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:11832973T>G	ENST00000341191.6	-	4	1529	c.1376A>C	c.(1375-1377)cAa>cCa	p.Q459P	ZNF823_ENST00000545749.1_Missense_Mutation_p.Q277P	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CTCATGATTTTGAAAGGAAGA	0.423										HNSCC(68;0.2)			6	104					0	0	0	0	G	11832973	T	G	11832973	3	3	293	1	0	0	0	0	1	0	0	0	18272	1812	63	5	460	5	ZNF823	19	11832973	Missense_Mutation	SNP	T	TCGA-CV-7247-01A-11D-2012-08	9711723	11832973	47296010	76	52284											
ZNF440	126070	broad.mit.edu	37	chr19	11943494	11943494	+	Frame_Shift_Del	DEL	T	T	-																															ccttcagtagttccagttccTtttgatatcatgaaaggact																										TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:11943494delT	ENST00000304060.5	+	4	1667	c.1503delT	c.(1501-1503)ccfs	p.P501fs		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTCCAGTTCCTTTTGATATCA	0.413													12	52	---	---	---	---					-	11943494	T	-	11943494	7	5	293	1	0	1	0	1	0	0	0	0	18008	1596	56	0	1517	0	ZNF440	19	11943494	Frame_Shift_Del	DEL	T	TCGA-CV-7247-01A-11D-2012-08	110521	11943494	47185489	77	52285											
NCAN	1463	broad.mit.edu	37	chr19	19334919	19334919	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtctcagctcagccatcAttgcagcccctcggcatcta	7	9	8	17	2	4	0	3	0	2	0	6	0	4	0	4	1	4	3	4	1	1	2			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:19334919A>G	ENST00000252575.5	+	4	608	c.565A>G	c.(565-567)Att>Gtt	p.I189V		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	189	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTCAGCCATCATTGCAGCCCC	0.602													21	45					0	0	0	0	G	19334919	A	G	19334919	3	3	293	1	0	0	0	0	1	0	0	0	10274	217	8	5	575	5	NCAN	19	19334919	Missense_Mutation	SNP	A	TCGA-CV-7247-01A-11D-2012-08	7391425	19334919	39794064	78	52286											
CILP2	148113	broad.mit.edu	37	chr19	19655256	19655256	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggacagcgacggcgagctGgctccactgcgcacctacgg	7	5	15	14	5	0	0	0	0	0	0	1	3	1	1	2	4	4	3	2	4	1	1			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:19655256G>A	ENST00000586018.1	+	8	2022	c.1920G>A	c.(1918-1920)ctG>ctA	p.L640L	CILP2_ENST00000291495.4_Silent_p.L634L			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	634						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACGGCGAGCTGGCTCCACTGC	0.736													7	123					0	0	0	0	A	19655256	G	A	19655256	2	1	293	1	0	0	0	0	0	0	0	1	3459	1335	47	4		4	CILP2	19	19655256	Silent	SNP	G	TCGA-CV-7247-01A-11D-2012-08	320337	19655256	39473727	79	52287											
PSG8	440533	broad.mit.edu	37	chr19	43259212	43259212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttcacattgatagggtcCtgtttcatttctcgtgacac	8	17	7	9	1	3	2	2	2	1	0	5	2	4	2	1	1	0	1	1	1	2	6			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr19:43259212C>T	ENST00000404209.4	-	4	1012	c.916G>A	c.(916-918)Gga>Aga	p.G306R	PSG8_ENST00000406636.3_Missense_Mutation_p.G184R|PSG8_ENST00000401467.2_Missense_Mutation_p.G213R|PSG8_ENST00000306511.4_Missense_Mutation_p.G306R|PSG8_ENST00000600709.1_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	306	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGATAGGGTCCTGTTTCATTT	0.498													46	206					0	0	0	0	T	43259212	C	T	43259212	3	4	293	1	0	0	0	0	1	0	0	0	12740	690	24	4	393	4	PSG8	19	43259212	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08	23603956	43259212	15869771	80	52288											
SMTN	6525	broad.mit.edu	37	chr22	31491537	31491537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggatcagagcacggaCtttgaagagcggaagctcat	12	7	13	9	2	2	3	2	1	0	2	2	6	2	6	0	3	4	3	0	3	2	1			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr22:31491537C>A	ENST00000333137.7	+	13	2021	c.1803C>A	c.(1801-1803)gaC>gaA	p.D601E	SMTN_ENST00000347557.2_Missense_Mutation_p.D601E|SMTN_ENST00000358743.1_Missense_Mutation_p.D601E|SMTN_ENST00000404574.1_Missense_Mutation_p.D200E	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	601					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AGAGCACGGACTTTGAAGAGC	0.577													15	37					3.27435e-08	1.76954e-07	1	0	A	31491537	C	A	31491537	3	1	293	1	0	0	0	0	1	0	0	0	14902	564	20	4	1849	4	SMTN	22	31491537	Missense_Mutation	SNP	C	TCGA-CV-7247-01A-11D-2012-08		31491537	19813029	81	52289											
ACO2	50	broad.mit.edu	37	chr22	41919936	41919936	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacccatgcctttgtcacGtccccagaggtgagactgcc	8	8	11	14	1	1	3	1	1	0	3	2	5	2	3	5	1	2	0	5	1	0	1	rs148997312		TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chr22:41919936G>A	ENST00000396512.3	+	12	1565	c.1548G>A	c.(1546-1548)acG>acA	p.T516T	ACO2_ENST00000216254.4_Silent_p.T491T			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	491					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCTTTGTCACGTCCCCAGAGG	0.617													9	33					0	0	0	0	A	41919936	G	A	41919936	2	1	293	1	0	0	0	0	0	0	0	1	147	1132	40	1		1	ACO2	22	41919936	Silent	SNP	G	TCGA-CV-7247-01A-11D-2012-08	10428399	41919936	9384630	82	52290											
FRMPD4	9758	broad.mit.edu	37	chrX	12734913	12734913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgtctgggtcaagcgatGacatcattgacctcacatcc	10	10	8	13	1	4	2	3	2	1	0	5	3	5	2	3	1	1	0	3	1	1	1			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chrX:12734913G>A	ENST00000380682.1	+	15	2841	c.2335G>A	c.(2335-2337)Gac>Aac	p.D779N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	779					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTCAAGCGATGACATCATTGA	0.592													9	100					0	0	0	0	A	12734913	G	A	12734913	3	1	293	1	0	0	0	0	1	0	0	0	6107	1290	45	2	2393	2	FRMPD4	23	12734913	Missense_Mutation	SNP	G	TCGA-CV-7247-01A-11D-2012-08		12734913	142535647	83	52291											
GLOD5	392465	broad.mit.edu	37	chrX	48629492	48629492	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggaggaaatgatccagcaCctcaaggtgagtgggacttc	11	9	13	8	0	1	2	1	2	0	0	3	5	2	5	2	4	1	1	2	4	2	2			TCGA-CV-7247-01A-11D-2012-08	TCGA-CV-7247-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3	60db65de-c75e-4f86-a87b-e6ffef420753	g.chrX:48629492C>T	ENST00000303227.6	+	3	392	c.351C>T	c.(349-351)caC>caT	p.H117H	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2			glyoxalase domain containing 5											endometrium(1)|lung(2)	3						TGATCCAGCACCTCAAGGTGA	0.483													18	10					0	0	0	0	T	48629492	C	T	48629492	2	4	293	1	0	0	0	0	0	0	0	1	6502	506	18	4		4	GLOD5	23	48629492	Silent	SNP	C	TCGA-CV-7247-01A-11D-2012-08	35894579	48629492	106641068	84	52292											
PLA2G2E	30814	broad.mit.edu	37	chr1	20246801	20246801	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggaggccgagcatagcctCagcagggcggggtgggcccg	6	3	21	11	3	1	0	1	0	0	0	1	2	1	1	3	7	3	2	3	7	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:20246801C>T	ENST00000375116.3	-	4	485	c.428G>A	c.(427-429)tGa>tAa	p.*143*		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	0					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCATAGCCTCAGCAGGGCGG	0.647													7	26					0	0	0	0	T	20246801	C	T	20246801	2	4	294	1	0	0	0	0	0	0	0	1	12070	840	29	2		2	PLA2G2E	1	20246801	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08		20246801	229003820	1	52293											
E2F2	1870	broad.mit.edu	37	chr1	23850945	23850945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaactcagggacgacgggCctcccaatcccctccagatc	9	5	11	16	2	1	1	1	0	0	1	5	4	4	3	5	3	1	0	5	3	2	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:23850945C>G	ENST00000361729.2	-	2	714	c.288G>C	c.(286-288)agG>agC	p.R96S		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	96	Cyclin A/CDK2 binding (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGACGACGGGCCTCCCAATCC	0.572													5	34					0	0	0	0	G	23850945	C	G	23850945	3	3	294	1	0	0	0	0	1	0	0	0	4903	738	26	4	1049	4	E2F2	1	23850945	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	3604144	23850945	225399676	2	52294											
RUNX3	864	broad.mit.edu	37	chr1	25228965	25228965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatggtggaagcggctggtgGccggcatgcccgccacgctg	5	7	17	12	4	0	0	0	0	0	0	0	1	0	1	3	6	2	3	3	6	2	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:25228965G>T	ENST00000399916.1	-	6	1376	c.938C>A	c.(937-939)gCc>gAc	p.A313D	RUNX3_ENST00000308873.6_Missense_Mutation_p.A299D|RUNX3_ENST00000540420.1_Missense_Mutation_p.A206D|RUNX3_ENST00000338888.3_Missense_Mutation_p.A313D	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	299	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GCGGCTGGTGGCCGGCATGCC	0.701													12	58					5.50884e-06	6.60416e-06	1	0	T	25228965	G	T	25228965	3	4	294	1	0	0	0	0	1	0	0	0	13834	1203	42	4	355	4	RUNX3	1	25228965	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1378020	25228965	224021656	3	52295											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507088	74507088	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaacgctctgaagccttttgGgatttttcttttagaaacag	11	15	8	7	1	2	2	0	1	2	1	2	3	2	3	1	1	3	1	1	1	4	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:74507088G>T	ENST00000354431.4	-	7	1718	c.1527C>A	c.(1525-1527)tcC>tcA	p.S509S	LRRIQ3_ENST00000395089.1_Silent_p.S509S	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	509										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAGCCTTTTGGGATTTTTCTT	0.363													7	96					2.7689e-08	3.63861e-08	1	0	T	74507088	G	T	74507088	2	4	294	1	0	0	0	0	0	0	0	1	9094	1219	43	4		4	LRRIQ3	1	74507088	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	49278123	74507088	174743533	4	52296											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507545	74507545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgaacctgaagtgtatatgGgtagtttgaaaactgatatc	14	13	10	4	0	0	4	0	4	0	0	1	4	0	4	1	1	2	3	1	1	8	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:74507545G>T	ENST00000354431.4	-	7	1261	c.1070C>A	c.(1069-1071)cCc>cAc	p.P357H	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P357H	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	357								p.P357L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGTGTATATGGGTAGTTTGAA	0.338													4	39					2.56e-06	3.08706e-06	1	0	T	74507545	G	T	74507545	3	4	294	1	0	0	0	0	1	0	0	0	9094	1232	43	4	812	4	LRRIQ3	1	74507545	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	457	74507545	174743076	5	52297											
ZZZ3	26009	broad.mit.edu	37	chr1	78098771	78098771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatgttatccttttctgaaGaagaaagtcctcttttccta	10	17	5	9	0	2	3	0	1	2	2	5	3	5	3	3	0	0	1	3	0	6	7			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:78098771G>A	ENST00000370801.3	-	5	744	c.269C>T	c.(268-270)tCt>tTt	p.S90F	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTTTTCTGAAGAAGAAAGTCC	0.383													17	157					0	0	0	0	A	78098771	G	A	78098771	3	1	294	1	0	0	0	0	1	0	0	0	18347	942	33	2	2486	2	ZZZ3	1	78098771	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	3591226	78098771	171151850	6	52298											
ELTD1	64123	broad.mit.edu	37	chr1	79470764	79470764	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttgtttaccttcacaaaTtgtgacaccatttcctgaaa	12	14	5	10	0	1	2	1	2	0	0	2	2	2	2	3	0	2	2	3	0	3	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:79470764T>A	ENST00000370742.3	-	2	226	c.163A>T	c.(163-165)Att>Ttt	p.I55F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	55	EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CCTTCACAAATTGTGACACCA	0.373													7	76					0	0	0	0	A	79470764	T	A	79470764	3	1	294	1	0	0	0	0	1	0	0	0	5122	1493	52	5	1965	5	ELTD1	1	79470764	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	1371993	79470764	169779857	7	52299											
COL24A1	255631	broad.mit.edu	37	chr1	86289270	86289270	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctggtcacctggttcGccctttagtagaaaccaaaa	11	10	7	13	1	2	1	2	0	0	1	3	1	2	1	4	2	1	2	4	2	5	4	rs143522499	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:86289270G>T	ENST00000370571.2	-	45	4104	c.3738C>A	c.(3736-3738)ggC>ggA	p.G1246G	COL24A1_ENST00000436319.1_Silent_p.G1246G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1246	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CACCTGGTTCGCCCTTTAGTA	0.318													5	56					0.000602214	0.000670945	1	0	T	86289270	G	T	86289270	2	4	294	1	0	0	0	0	0	0	0	1	3713	1074	38	3		3	COL24A1	1	86289270	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	6818506	86289270	162961351	8	52300											
KCNA3	3738	broad.mit.edu	37	chr1	111217039	111217039	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgcgccgcttggggtcGcccagcagcgtctcggggaa	5	7	15	14	5	2	0	1	0	1	0	4	1	2	1	2	4	3	2	2	4	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:111217039G>T	ENST00000369769.2	-	1	616	c.393C>A	c.(391-393)ggC>ggA	p.G131G		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	131						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTGGGGTCGCCCAGCAGCG	0.627													13	117					7.03913e-09	9.46243e-09	1	0	T	111217039	G	T	111217039	2	4	294	1	0	0	0	0	0	0	0	1	8057	1074	38	3		3	KCNA3	1	111217039	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	24927769	111217039	138033582	9	52301											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150529140	150529140	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccatcatcaatgggaactgGgctgtggatccccctgggtc	7	10	12	12	0	2	0	2	0	0	0	5	2	4	2	3	4	1	1	3	4	2	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:150529140G>A	ENST00000271643.4	+	10	1856	c.1620G>A	c.(1618-1620)tgG>tgA	p.W540*	ADAMTSL4_ENST00000369039.5_Nonsense_Mutation_p.W563*|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Nonsense_Mutation_p.W540*|ADAMTSL4_ENST00000369038.2_Nonsense_Mutation_p.W540*	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	540					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ATGGGAACTGGGCTGTGGATC	0.612													16	147					0	0	0	0	A	150529140	G	A	150529140	4	1	294	1	0	0	0	0	0	1	0	0	277	1241	43	4	1650	4	ADAMTSL4	1	150529140	Nonsense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	39312101	150529140	98721481	10	52302											
HRNR	388697	broad.mit.edu	37	chr1	152191468	152191468	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagagccatgtcggccgcgGcccgaagcgtgatgggaggc	7	4	17	13	5	0	2	0	1	0	1	1	4	0	3	4	4	2	0	4	4	1	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:152191468G>T	ENST00000368801.2	-	3	2712	c.2637C>A	c.(2635-2637)ggC>ggA	p.G879G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	879					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCGGCCGCGGCCCGAAGCGT	0.622													48	90					3.77016e-25	6.03814e-25	1	0	T	152191468	G	T	152191468	2	4	294	1	0	0	0	0	0	0	0	1	7409	1190	42	4		4	HRNR	1	152191468	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1662328	152191468	97059153	11	52303											
SPTA1	6708	broad.mit.edu	37	chr1	158583633	158583633	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aactctttgtgagtcaggcgCcctgtcaaattctcatcaaa	11	12	7	11	1	5	1	4	1	2	0	6	1	5	1	1	1	1	0	1	1	3	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:158583633C>G	ENST00000368148.3	-	50	7047	c.6867G>C	c.(6865-6867)ggG>ggC	p.G2289G	SPTA1_ENST00000368147.3_Silent_p.G2286G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2289	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGTCAGGCGCCCTGTCAAAT	0.408													14	29					0	0	0	0	G	158583633	C	G	158583633	2	3	294	1	0	0	0	0	0	0	0	1	15206	726	26	4		4	SPTA1	1	158583633	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	6392165	158583633	90666988	12	52304											
OR6K2	81448	broad.mit.edu	37	chr1	158669539	158669539	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgacctatgtgcttttttaTagcttcttttatttctttat	6	25	4	6	0	2	1	0	1	2	0	2	1	2	1	1	0	2	2	1	0	5	12			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:158669539T>A	ENST00000359610.2	-	1	947	c.904A>T	c.(904-906)Ata>Tta	p.I302L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGCTTTTTTATAGCTTCTTTT	0.378													13	25					0	0	0	0	A	158669539	T	A	158669539	3	1	294	1	0	0	0	0	1	0	0	0	11273	1406	49	5	74	5	OR6K2	1	158669539	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	85906	158669539	90581082	13	52305											
NMNAT2	23057	broad.mit.edu	37	chr1	183387391	183387391	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagataacgtgggtcttggtGgtctcggtcatggtgcagat	8	12	15	6	2	3	2	1	0	2	2	4	2	3	2	0	5	2	1	0	5	2	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:183387391G>C	ENST00000287713.6	-	1	346	c.12C>G	c.(10-12)acC>acG	p.T4T		NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	4					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GGGTCTTGGTGGTCTCGGTCA	0.567													48	93					0	0	0	0	C	183387391	G	C	183387391	2	2	294	1	0	0	0	0	0	0	0	1	10569	1335	47	4		4	NMNAT2	1	183387391	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	24717852	183387391	65863230	14	52306											
LHX9	56956	broad.mit.edu	37	chr1	197898131	197898131	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaattgggattggtttgcaGgtttggttccaaaacgcacg	9	13	12	7	2	1	0	1	0	0	0	2	1	2	1	1	4	2	5	1	4	3	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:197898131G>C	ENST00000367390.3	+	6	936		c.e6-1		LHX9_ENST00000367387.4_Splice_Site|LHX9_ENST00000337020.2_Intron|LHX9_ENST00000561173.1_Intron|LHX9_ENST00000367391.1_Intron	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9						motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTGGTTTGCAGGTTTGGTTCC	0.413													20	22					0	0	0	0	C	197898131	G	C	197898131	5	2	294	1	0	0	0	0	0	0	1	0	8831	1014	35	4	986	4	LHX9	1	197898131	Splice_Site	SNP	G	TCGA-CV-7248-01A-11D-2012-08	14510740	197898131	51352490	15	52307											
CACNA1S	779	broad.mit.edu	37	chr1	201047133	201047133	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccacgaagcagtcgaagCggttgaagatagacatgaag	16	5	12	8	3	0	4	0	2	0	2	1	6	0	4	1	1	2	2	1	1	5	2	rs150590855	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:201047133C>A	ENST00000362061.3	-	11	1719	c.1493G>T	c.(1492-1494)cGc>cTc	p.R498L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R498L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	498					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAGTCGAAGCGGTTGAAGAT	0.592													39	74					5.44703e-19	8.4594e-19	1	0	A	201047133	C	A	201047133	3	1	294	1	0	0	0	0	1	0	0	0	2572	768	27	3	4264	3	CACNA1S	1	201047133	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	3149002	201047133	48203488	16	52308											
OR2L13	284521	broad.mit.edu	37	chr1	248262829	248262829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcacctcatccacgtggAtcctcgtctccacacaccga	9	9	6	17	3	3	0	2	0	1	0	7	3	5	1	5	1	0	0	5	1	0	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:248262829A>G	ENST00000366478.2	+	3	489	c.152A>G	c.(151-153)gAt>gGt	p.D51G	OR2L13_ENST00000358120.2_Missense_Mutation_p.D51G	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATCCACGTGGATCCTCGTCTC	0.502													6	151					0	0	0	0	G	248262829	A	G	248262829	3	3	294	1	0	0	0	0	1	0	0	0	11077	333	12	5	154	5	OR2L13	1	248262829	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	47215696	248262829	987792	17	52309											
OR2T33	391195	broad.mit.edu	37	chr1	248436759	248436759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagacagccgcatagcGgtcataggccatggctgcta	9	7	14	11	2	1	1	1	0	0	1	1	1	1	1	2	4	3	4	2	4	3	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:248436759G>T	ENST00000318021.2	-	1	379	c.358C>A	c.(358-360)Cgc>Agc	p.R120S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCGCATAGCGGTCATAGGCC	0.592													21	95					2.85442e-18	4.41627e-18	1	0	T	248436759	G	T	248436759	3	4	294	1	0	0	0	0	1	0	0	0	11095	1116	39	3	607	3	OR2T33	1	248436759	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	173930	248436759	813862	18	52310											
ITSN2	50618	broad.mit.edu	37	chr2	24484540	24484540	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttttctacataattgcaTggaaaccagccaaaatttcc	14	14	4	9	0	1	0	0	0	1	0	2	1	2	1	3	1	4	1	3	1	5	7			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:24484540T>A	ENST00000355123.4	-	21	2870	c.2427A>T	c.(2425-2427)ccA>ccT	p.P809P	ITSN2_ENST00000361999.3_Silent_p.P782P|ITSN2_ENST00000406921.3_Silent_p.P809P	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	809	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATAATTGCATGGAAACCAGC	0.368													7	37					0	0	0	0	A	24484540	T	A	24484540	2	1	294	1	0	0	0	0	0	0	0	1	7980	1451	51	5		5	ITSN2	2	24484540	Silent	SNP	T	TCGA-CV-7248-01A-11D-2012-08		24484540	218714833	19	52311											
OTOF	9381	broad.mit.edu	37	chr2	26687858	26687858	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaggcgggtcaggatctgGctgggcttcatggggtcccg	5	8	18	10	2	3	1	2	0	1	1	4	2	4	2	1	7	0	2	1	7	0	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:26687858G>A	ENST00000272371.2	-	39	4965	c.4839C>T	c.(4837-4839)agC>agT	p.S1613S	OTOF_ENST00000338581.6_Silent_p.S846S|OTOF_ENST00000403946.3_Silent_p.S1613S|OTOF_ENST00000402415.3_Silent_p.S923S|OTOF_ENST00000339598.3_Silent_p.S846S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1613					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGGATCTGGCTGGGCTTCA	0.627													8	45					0	0	0	0	A	26687858	G	A	26687858	2	1	294	1	0	0	0	0	0	0	0	1	11374	1194	42	4		4	OTOF	2	26687858	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	2203318	26687858	216511515	20	52312											
NRBP1	29959	broad.mit.edu	37	chr2	27663754	27663754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtgacatcacctgtcgtgCccccctctgtcaagactccg	7	9	9	16	2	3	2	2	1	1	1	5	2	4	2	5	1	1	0	5	1	1	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:27663754C>T	ENST00000233557.3	+	15	2108	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	NRBP1_ENST00000379863.3_Missense_Mutation_p.P434S|NRBP1_ENST00000379852.3_Missense_Mutation_p.P426S			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	426					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ACCTGTCGTGCCCCCCTCTGT	0.602													12	76					0	0	0	0	T	27663754	C	T	27663754	3	4	294	1	0	0	0	0	1	0	0	0	10713	739	26	4	1326	4	NRBP1	2	27663754	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	975896	27663754	215535619	21	52313											
EHD3	30845	broad.mit.edu	37	chr2	31483477	31483477	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctctgatgagttctcaGaagtcatcaaagccctcaag	13	10	7	11	0	5	3	4	2	2	1	7	3	5	3	1	0	1	1	1	0	3	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:31483477G>T	ENST00000322054.5	+	4	889	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	202					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGAGTTCTCAGAAGTCATCAA	0.537													17	39					1.99824e-07	2.52863e-07	1	0	T	31483477	G	T	31483477	4	4	294	1	0	0	0	0	0	1	0	0	5015	943	33	2	618	2	EHD3	2	31483477	Nonsense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	3819723	31483477	211715896	22	52314											
XDH	7498	broad.mit.edu	37	chr2	31598336	31598336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcaccggaagtccacCatgccaccaggggcatcggg	9	4	15	13	2	0	0	0	0	0	0	2	1	1	1	5	5	2	2	5	5	1	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:31598336C>A	ENST00000379416.3	-	15	1560	c.1512G>T	c.(1510-1512)atG>atT	p.M504I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	504					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGAAGTCCACCATGCCACCAG	0.607													20	72					1.56452e-12	2.27466e-12	1	0	A	31598336	C	A	31598336	3	1	294	1	0	0	0	0	1	0	0	0	17522	594	21	4	2577	4	XDH	2	31598336	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	114859	31598336	211601037	23	52315											
VIT	5212	broad.mit.edu	37	chr2	36982161	36982161	+	Translation_Start_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacggtgtccaatcgttaTccctaccacgatggagagaa	12	8	9	12	3	0	1	0	0	0	1	3	4	2	2	4	2	2	1	4	2	5	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:36982161T>G	ENST00000497382.1	+	0	560				VIT_ENST00000401530.1_Missense_Mutation_p.S125A|VIT_ENST00000404084.1_Missense_Mutation_p.S103A|VIT_ENST00000379241.3_Missense_Mutation_p.S125A|VIT_ENST00000389975.3_Missense_Mutation_p.S125A|VIT_ENST00000379242.3_Missense_Mutation_p.S125A|VIT_ENST00000457137.2_Missense_Mutation_p.S125A			Q6UXI7	VITRN_HUMAN	vitrin							proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCAATCGTTATCCCTACCACG	0.438													5	32					0	0	0	0	G	36982161	T	G	36982161	1	3	294	1	0	0	0	0	0	0	0	0	17267	1435	50	5		5	VIT	2	36982161	Translation_Start_Site	SNP	T	TCGA-CV-7248-01A-11D-2012-08	5383825	36982161	206217212	24	52316											
EPAS1	2034	broad.mit.edu	37	chr2	46574098	46574098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggtgttctatgagctggCccatgagctgcctctgcccc	5	10	13	13	0	2	2	0	2	2	0	2	3	2	3	4	3	4	3	4	3	1	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:46574098C>T	ENST00000263734.3	+	2	623	c.113C>T	c.(112-114)gCc>gTc	p.A38V	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	38	Helix-loop-helix motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TATGAGCTGGCCCATGAGCTG	0.602													14	107					0	0	0	0	T	46574098	C	T	46574098	3	4	294	1	0	0	0	0	1	0	0	0	5188	739	26	4	119	4	EPAS1	2	46574098	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	9591937	46574098	196625275	25	52317											
PSME4	23198	broad.mit.edu	37	chr2	54117299	54117299	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctacggtaatattggacAgtgctgttctaagcagaggg	10	13	12	6	1	2	1	0	0	2	1	2	2	2	2	0	3	3	4	0	3	4	7			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:54117299A>T	ENST00000404125.1	-	37	4293	c.4238T>A	c.(4237-4239)cTg>cAg	p.L1413Q	PSME4_ENST00000421748.2_Missense_Mutation_p.L557Q	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1413					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AATATTGGACAGTGCTGTTCT	0.388													26	119					0	0	0	0	T	54117299	A	T	54117299	3	4	294	1	0	0	0	0	1	0	0	0	12788	188	7	5	1333	5	PSME4	2	54117299	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	7543201	54117299	189082074	26	52318											
CLEC4F	165530	broad.mit.edu	37	chr2	71043258	71043258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaacctctggatctcggCactggccttctgcagattgc	6	13	9	13	1	4	1	0	0	4	1	5	2	4	2	2	3	3	2	2	3	1	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:71043258C>A	ENST00000272367.2	-	4	1331	c.1255G>T	c.(1255-1257)Gcc>Tcc	p.A419S	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A419S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	419					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGGATCTCGGCACTGGCCTTC	0.498													9	34					7.48243e-07	9.24035e-07	1	0	A	71043258	C	A	71043258	3	1	294	1	0	0	0	0	1	0	0	0	3546	710	25	4	530	4	CLEC4F	2	71043258	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	16925959	71043258	172156115	27	52319											
REG3G	130120	broad.mit.edu	37	chr2	79255021	79255021	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaaatccctccaccatctTaaaccctggccactgtggga	12	8	7	14	0	1	0	0	0	1	0	3	2	3	1	5	2	1	0	5	2	4	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:79255021T>A	ENST00000272324.5	+	5	606	c.422T>A	c.(421-423)tTa>tAa	p.L141*	REG3G_ENST00000393897.2_Nonsense_Mutation_p.L141*|REG3G_ENST00000409471.1_Nonsense_Mutation_p.L95*	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	141	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCACCATCTTAAACCCTGGC	0.498													20	94					0	0	0	0	A	79255021	T	A	79255021	4	1	294	1	0	0	0	0	0	1	0	0	13295	1764	61	5	436	5	REG3G	2	79255021	Nonsense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	8211763	79255021	163944352	28	52320											
RPIA	22934	broad.mit.edu	37	chr2	88991474	88991474	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggccaagaagctggcgggCcgcgcggctgtggagaacca	9	3	18	11	4	0	2	0	0	0	2	0	4	0	2	3	5	2	2	3	5	3	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:88991474C>T	ENST00000283646.4	+	1	313	c.258C>T	c.(256-258)ggC>ggT	p.G86G		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	86					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				AGCTGGCGGGCCGCGCGGCTG	0.672													5	15					0	0	0	0	T	88991474	C	T	88991474	2	4	294	1	0	0	0	0	0	0	0	1	13638	726	26	4		4	RPIA	2	88991474	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	9736453	88991474	154207899	29	52321											
SLC9A4	389015	broad.mit.edu	37	chr2	103136343	103136343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggatacaaggaatcaaaAgactttcccctgaagatgtg	16	8	10	7	0	1	4	1	1	0	3	2	6	2	6	2	2	1	0	2	2	6	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:103136343A>G	ENST00000295269.4	+	9	2204	c.1747A>G	c.(1747-1749)Aga>Gga	p.R583G		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	583					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						AGGAATCAAAAGACTTTCCCC	0.458													10	24					0	0	0	0	G	103136343	A	G	103136343	3	3	294	1	0	0	0	0	1	0	0	0	14804	64	3	5	1781	5	SLC9A4	2	103136343	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	14144869	103136343	140063030	30	52322											
UGGT1	56886	broad.mit.edu	37	chr2	128937402	128937402	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaataccaagactcctgtGaaattctggttcttgaagaa	15	11	8	7	0	2	5	0	2	2	3	3	5	3	5	2	1	1	1	2	1	7	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:128937402G>C	ENST00000375990.3	+	35	4189	c.3786G>C	c.(3784-3786)gtG>gtC	p.V1262V	UGGT1_ENST00000259253.6_Silent_p.V1286V			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1286	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGACTCCTGTGAAATTCTGGT	0.343													11	53					0	0	0	0	C	128937402	G	C	128937402	2	2	294	1	0	0	0	0	0	0	0	1	17037	1277	45	2		2	UGGT1	2	128937402	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	25801059	128937402	114261971	31	52323											
NCKAP5	344148	broad.mit.edu	37	chr2	133541907	133541907	+	Frame_Shift_Del	DEL	G	G	-																															gagtcaccaggccagatgaaGggagtagtgtggtggcttcg																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:133541907delG	ENST00000409261.1	-	14	2850	c.2477delC	c.(2476-2478)ctfs	p.P826fs	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P826fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	826							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCAGATGAAGGGAGTAGTGT	0.473													43	199	---	---	---	---					-	133541907	G	-	133541907	7	5	294	1	0	1	0	1	0	0	0	0	10293	1000	35	0	3280	0	NCKAP5	2	133541907	Frame_Shift_Del	DEL	G	TCGA-CV-7248-01A-11D-2012-08	4604505	133541907	109657466	32	52324											
ZEB2	9839	broad.mit.edu	37	chr2	145156365	145156365	+	Missense_Mutation	SNP	G	G	T																															tggagtgtatgaactactgtGggagtttttagaagatgtgg																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:145156365G>T	ENST00000558170.2	-	8	3573	c.2389C>A	c.(2389-2391)Cac>Aac	p.H797N	ZEB2_ENST00000303660.4_Missense_Mutation_p.H797N|ZEB2_ENST00000539609.3_Missense_Mutation_p.H773N|ZEB2_ENST00000409487.3_Missense_Mutation_p.H797N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	797						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAACTACTGTGGGAGTTTTTA	0.393													20	140					8.34094e-07	1.02389e-06	1	0	T	145156365	G	T	145156365	3	4	294	1	0	0	0	0	1	0	0	0	17719	1348	47	4	1267	4	ZEB2	2	145156365	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	11614458	145156365	98043008	33	52325	413	2									
ZEB2	9839	broad.mit.edu	37	chr2	145156366	145156366	+	Silent	SNP	G	G	T																															ggagtgtatgaactactgtgGgagtttttagaagatgtgga																								rs111359671		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:145156366G>T	ENST00000558170.2	-	8	3572	c.2388C>A	c.(2386-2388)tcC>tcA	p.S796S	ZEB2_ENST00000303660.4_Silent_p.S796S|ZEB2_ENST00000539609.3_Silent_p.S772S|ZEB2_ENST00000409487.3_Silent_p.S796S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	796						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AACTACTGTGGGAGTTTTTAG	0.398													21	137					1.2644e-06	1.54748e-06	1	0	T	145156366	G	T	145156366	2	4	294	1	0	0	0	0	0	0	0	1	17719	1219	43	4		4	ZEB2	2	145156366	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1	145156366	98043007	34	52326	413	2									
KCNH7	90134	broad.mit.edu	37	chr2	163695000	163695000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccagaaatgtattttgtGgtgccacatgccccctgcgc	7	11	9	14	1	0	1	0	0	0	1	1	1	1	1	5	1	3	1	5	1	2	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:163695000G>T	ENST00000332142.5	-	1	128	c.29C>A	c.(28-30)cCa>cAa	p.P10Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.P10Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	10					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGTATTTTGTGGTGCCACATG	0.562													14	56					2.48551e-13	3.66567e-13	1	0	T	163695000	G	T	163695000	3	4	294	1	0	0	0	0	1	0	0	0	8090	1348	47	4	3691	4	KCNH7	2	163695000	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	18538634	163695000	79504373	35	52327											
SCN7A	6332	broad.mit.edu	37	chr2	167279890	167279890	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagatcatgtcagcatatTctaataaaattttaattgtc	16	16	4	5	0	3	1	2	0	1	1	4	1	3	1	0	0	1	1	0	0	7	8			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:167279890T>G	ENST00000409855.1	-	18	3032	c.2906A>C	c.(2905-2907)gAa>gCa	p.E969A		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	969					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GTCAGCATATTCTAATAAAAT	0.308													6	22					0	0	0	0	G	167279890	T	G	167279890	3	3	294	1	0	0	0	0	1	0	0	0	14010	1783	62	5	2174	5	SCN7A	2	167279890	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	3584890	167279890	75919483	36	52328											
SCN7A	6332	broad.mit.edu	37	chr2	167301445	167301445	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagggagaacaattccAgatcaagaaagttttagcaa	18	7	8	8	0	1	3	1	0	0	3	2	4	2	3	2	1	3	2	2	1	7	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:167301445A>T	ENST00000409855.1	-	12	1579	c.1453T>A	c.(1453-1455)Tgg>Agg	p.W485R		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	485					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GAACAATTCCAGATCAAGAAA	0.303													9	25					0	0	0	0	T	167301445	A	T	167301445	3	4	294	1	0	0	0	0	1	0	0	0	14010	188	7	5	3651	5	SCN7A	2	167301445	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	21555	167301445	75897928	37	52329											
TTN	7273	broad.mit.edu	37	chr2	179423146	179423146	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgattttcagcaaacactcGgaaaaagtattcagaattct	15	13	6	7	1	3	2	2	1	1	1	4	3	3	3	0	1	2	2	0	1	5	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179423146G>T	ENST00000589042.1	-	327	87264	c.87040C>A	c.(87040-87042)Cga>Aga	p.R29014R	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.R20141R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.R20074R|TTN_ENST00000342992.6_Silent_p.R26446R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.R19949R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.R27373R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27373	Fibronectin type-III 111.						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)			GCAAACACTCGGAAAAAGTAT	0.423													10	32					2.74318e-10	3.82552e-10	1	0	T	179423146	G	T	179423146	2	4	294	1	0	0	0	0	0	0	0	1	16831	1124	39	3		3	TTN	2	179423146	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	12121701	179423146	63776227	38	52330											
TTN	7273	broad.mit.edu	37	chr2	179431634	179431634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaccatcactatctggacGgttccaacagacggtcatgg	10	9	9	13	2	3	1	2	0	1	1	5	2	5	2	3	4	1	1	3	4	2	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179431634G>T	ENST00000589042.1	-	326	79449	c.79225C>A	c.(79225-79227)Cgt>Agt	p.R26409S	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17536S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17469S|TTN_ENST00000342992.6_Missense_Mutation_p.R23841S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17344S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24768S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24768	Ig-like 127.						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)			CTATCTGGACGGTTCCAACAG	0.413													27	78					3.73808e-20	5.87208e-20	1	0	T	179431634	G	T	179431634	3	4	294	1	0	0	0	0	1	0	0	0	16831	1116	39	3	28902	3	TTN	2	179431634	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	8488	179431634	63767739	39	52331											
TTN	7273	broad.mit.edu	37	chr2	179483207	179483207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacttctaagttacgtactgGcccaggaacatctgaaattc	12	11	7	11	1	2	1	0	1	2	0	3	2	2	2	1	2	3	2	1	2	5	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179483207G>T	ENST00000589042.1	-	252	47202	c.46978C>A	c.(46978-46980)Cca>Aca	p.P15660T	TTN_ENST00000342175.6_Missense_Mutation_p.P6787T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P6720T|TTN_ENST00000342992.6_Missense_Mutation_p.P13092T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P6595T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P14019T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14019	Ig-like 98.						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)			TTACGTACTGGCCCAGGAACA	0.403													22	67					1.28384e-07	1.63979e-07	1	0	T	179483207	G	T	179483207	3	4	294	1	0	0	0	0	1	0	0	0	16831	1203	42	4	61159	4	TTN	2	179483207	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	51573	179483207	63716166	40	52332											
TTN	7273	broad.mit.edu	37	chr2	179585700	179585700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaacaccattatgagcCtcacaaatgtagtccccgct	12	9	5	15	1	2	1	2	1	0	0	3	1	3	1	5	0	2	2	5	0	4	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179585700C>A	ENST00000589042.1	-	79	23270	c.23046G>T	c.(23044-23046)gaG>gaT	p.E7682D	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6438D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E7365D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7365	Ig-like 59.						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)			CATTATGAGCCTCACAAATGT	0.428													8	74					1.12685e-05	1.34305e-05	1	0	A	179585700	C	A	179585700	3	1	294	1	0	0	0	0	1	0	0	0	16831	680	24	4	81619	4	TTN	2	179585700	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	102493	179585700	63613673	41	52333											
ZNF804A	91752	broad.mit.edu	37	chr2	185803441	185803441	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactgttttgcagcagcaCgctgcagctgctgcagctgc	7	9	11	14	1	0	0	0	0	0	0	0	0	0	0	0	0	9	10	0	0	0	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:185803441C>T	ENST00000302277.6	+	4	3912	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1106						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						tgcagcagcacgctgcagctg	0.547													14	93					0	0	0	0	T	185803441	C	T	185803441	2	4	294	1	0	0	0	0	0	0	0	1	18263	535	19	1		1	ZNF804A	2	185803441	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	6217741	185803441	57395932	42	52334											
ZSWIM2	151112	broad.mit.edu	37	chr2	187702117	187702117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtctctctttttctgctGcagctactagtttgctagag	6	16	8	11	0	3	1	0	0	3	1	4	1	3	1	1	0	5	5	1	0	3	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:187702117G>T	ENST00000295131.2	-	5	698	c.659C>A	c.(658-660)gCa>gAa	p.A220E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	220					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTTTTCTGCTGCAGCTACTAG	0.393													25	58					5.45024e-15	8.12581e-15	1	0	T	187702117	G	T	187702117	3	4	294	1	0	0	0	0	1	0	0	0	18332	1319	46	4	1262	4	ZSWIM2	2	187702117	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1898676	187702117	55497256	43	52335											
ZSWIM2	151112	broad.mit.edu	37	chr2	187703819	187703819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attttcgtcatttgttcctgGttggggagtttgaactcgat	6	18	11	6	2	1	1	1	1	0	0	4	3	2	2	1	3	1	3	1	3	1	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:187703819G>T	ENST00000295131.2	-	4	400	c.361C>A	c.(361-363)Cca>Aca	p.P121T		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	121					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTTGTTCCTGGTTGGGGAGTT	0.403													44	201					4.67007e-22	7.36433e-22	1	0	T	187703819	G	T	187703819	3	4	294	1	0	0	0	0	1	0	0	0	18332	1261	44	4	1564	4	ZSWIM2	2	187703819	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1702	187703819	55495554	44	52336											
PMS1	5378	broad.mit.edu	37	chr2	190718963	190718963	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgttaatttgtatttttAggaatctgttttaattgctc	9	23	6	3	0	1	0	0	0	1	0	2	1	1	1	0	1	1	4	0	1	5	10			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:190718963A>G	ENST00000441310.2	+	9	1199		c.e9-1		PMS1_ENST00000447232.2_Splice_Site|PMS1_ENST00000432292.3_Splice_Site|PMS1_ENST00000409823.3_Splice_Site|PMS1_ENST00000421722.1_Splice_Site|PMS1_ENST00000418224.3_Splice_Site	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)						mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTGTATTTTTAGGAATCTGTT	0.234			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					4	30					0	0	0	0	G	190718963	A	G	190718963	5	3	294	1	0	0	0	0	0	0	1	0	12214	434	15	5	995	5	PMS1	2	190718963	Splice_Site	SNP	A	TCGA-CV-7248-01A-11D-2012-08	3015144	190718963	52480410	45	52337											
DNAH7	56171	broad.mit.edu	37	chr2	196825534	196825534	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcccttctgtccatgctcTatagttgctgctaaattcga	7	15	8	11	1	2	0	0	0	2	0	4	1	3	0	2	1	3	4	2	1	4	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:196825534T>C	ENST00000312428.6	-	18	2441	c.2341A>G	c.(2341-2343)Aga>Gga	p.R781G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	781	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCCATGCTCTATAGTTGCTG	0.383													32	122					0	0	0	0	C	196825534	T	C	196825534	3	2	294	1	0	0	0	0	1	0	0	0	4642	1530	53	5	9925	5	DNAH7	2	196825534	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	6106571	196825534	46373839	46	52338											
PIKFYVE	200576	broad.mit.edu	37	chr2	209207340	209207340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccattgcagtctgcgagaAggaacccagctccatcattg	10	8	10	13	1	2	1	1	0	1	1	3	3	3	2	3	1	4	2	3	1	2	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:209207340A>G	ENST00000264380.4	+	32	5152	c.4994A>G	c.(4993-4995)aAg>aGg	p.K1665R		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1665					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GTCTGCGAGAAGGAACCCAGC	0.343													10	51					0	0	0	0	G	209207340	A	G	209207340	3	3	294	1	0	0	0	0	1	0	0	0	11996	72	3	5	5127	5	PIKFYVE	2	209207340	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	12381806	209207340	33992033	47	52339											
MAP2	4133	broad.mit.edu	37	chr2	210559961	210559961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaagggtcttagttcagtgCcagagatagctgaggtagaa	13	9	14	5	0	2	4	1	1	1	3	2	5	2	4	1	2	2	3	1	2	5	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:210559961C>T	ENST00000360351.4	+	7	3573	c.3067C>T	c.(3067-3069)Cca>Tca	p.P1023S	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P1019S|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1023					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TAGTTCAGTGCCAGAGATAGC	0.428													6	38					0	0	0	0	T	210559961	C	T	210559961	3	4	294	1	0	0	0	0	1	0	0	0	9304	739	26	4	3081	4	MAP2	2	210559961	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	1352621	210559961	32639412	48	52340											
ABCA12	26154	broad.mit.edu	37	chr2	215880266	215880266	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagggtgagtccgatgAggtaagactgccgggatctc	10	7	16	8	2	1	4	0	2	1	2	3	6	2	5	2	3	1	2	2	3	2	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:215880266A>T	ENST00000272895.7	-	15	2123	c.1904T>A	c.(1903-1905)cTc>cAc	p.L635H	ABCA12_ENST00000389661.4_Missense_Mutation_p.L317H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	635					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTCCGATGAGGTAAGACTG	0.383													5	27					0	0	0	0	T	215880266	A	T	215880266	3	4	294	1	0	0	0	0	1	0	0	0	30	304	11	5	6039	5	ABCA12	2	215880266	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	5320305	215880266	27319107	49	52341											
COL6A3	1293	broad.mit.edu	37	chr2	238242141	238242141	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcaccattagattgatggTtgaactagaagctgaccttg	11	12	10	8	0	1	5	1	3	0	2	1	5	1	5	2	1	2	3	2	1	4	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:238242141T>C	ENST00000295550.4	-	42	9732	c.9280A>G	c.(9280-9282)Acc>Gcc	p.T3094A	COL6A3_ENST00000409809.1_Missense_Mutation_p.T2888A|COL6A3_ENST00000353578.4_Missense_Mutation_p.T2888A|COL6A3_ENST00000346358.4_Missense_Mutation_p.T2894A|COL6A3_ENST00000472056.1_Missense_Mutation_p.T2487A|COL6A3_ENST00000347401.3_Missense_Mutation_p.T2893A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3094	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGATTGATGGTTGAACTAGAA	0.423													13	65					0	0	0	0	C	238242141	T	C	238242141	3	2	294	1	0	0	0	0	1	0	0	0	3731	1725	60	5	265	5	COL6A3	2	238242141	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	22361875	238242141	4957232	50	52342											
FARP2	9855	broad.mit.edu	37	chr2	242373725	242373726	+	Frame_Shift_Ins	INS	-	-	T																															tcttcagccggggctcctccINSttcagatacaggtaggggcc																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:242373725_242373726insT	ENST00000264042.3	+	10	1190_1191	c.1020_1021insT	c.(1018-1023)tctcagfs	p.Q341fs	FARP2_ENST00000545004.1_Frame_Shift_Ins_p.Q341fs|FARP2_ENST00000373287.4_Frame_Shift_Ins_p.Q341fs	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	341					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGGGCTCCTCCTTCAGATACAG	0.46													10	56	---	---	---	---					T	242373726	-	T	242373725	7	5	294	1	0	1	1	0	0	0	0	0	5722	668	24	0	1054	0	FARP2	2	242373725	Frame_Shift_Ins	INS	-	TCGA-CV-7248-01A-11D-2012-08	4131584	242373725	825648	51	52343											
FBLN2	2199	broad.mit.edu	37	chr3	13670762	13670762	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgactgcaaagccggctttCagcgggatgcctttggccgg	6	9	15	11	3	1	1	1	1	0	0	1	2	1	2	3	4	4	2	3	4	1	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:13670762C>T	ENST00000404922.3	+	13	2931	c.2812C>T	c.(2812-2814)Cag>Tag	p.Q938*	FBLN2_ENST00000492059.1_Nonsense_Mutation_p.Q938*|FBLN2_ENST00000295760.7_Nonsense_Mutation_p.Q891*|FBLN2_ENST00000535798.1_Nonsense_Mutation_p.Q917*	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	933	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCCGGCTTTCAGCGGGATGC	0.642													7	18					0	0	0	0	T	13670762	C	T	13670762	4	4	294	1	0	0	0	0	0	1	0	0	5744	827	29	2	1548	2	FBLN2	3	13670762	Nonsense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08		13670762	184351668	52	52344											
CYP8B1	1582	broad.mit.edu	37	chr3	42917227	42917227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggggctcccatggcctgcGttgtcggagcatccctggca	5	8	15	13	2	0	0	0	0	0	0	3	1	2	1	3	5	2	4	3	5	0	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr3:42917227G>A	ENST00000316161.4	-	1	406	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R28C	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	28					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	p.R28C(1)		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)		CATGGCCTGCGTTGTCGGAGC	0.582													4	51					0	0	0	0	A	42917227	G	A	42917227	3	1	294	1	0	0	0	0	1	0	0	0	4230	1145	40	1	1427	1	CYP8B1	3	42917227	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	29246465	42917227	155105203	53	52345											
WNT5A	7474	broad.mit.edu	37	chr3	55513456	55513456	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcgcgccttctccgaTgtactgcatgtggtcctgat	4	15	10	12	3	2	1	0	1	2	0	5	2	3	1	3	1	2	2	3	1	1	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:55513456T>C	ENST00000474267.1	-	4	798	c.277A>G	c.(277-279)Atc>Gtc	p.I93V	WNT5A_ENST00000264634.4_Missense_Mutation_p.I93V|WNT5A_ENST00000497027.1_Missense_Mutation_p.I78V			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	93					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CCTTCTCCGATGTACTGCATG	0.483													31	81					0	0	0	0	C	55513456	T	C	55513456	3	2	294	1	0	0	0	0	1	0	0	0	17487	1464	51	5	877	5	WNT5A	3	55513456	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	12596229	55513456	142508974	54	52346											
ATXN7	6314	broad.mit.edu	37	chr3	63898838	63898838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtatatctcctagggacaGaattggacgaaagtttcaag	13	11	11	6	1	2	1	1	0	1	1	3	4	2	3	1	2	0	2	1	2	6	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:63898838G>A	ENST00000398590.3	+	4	884	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	ATXN7_ENST00000487717.1_Missense_Mutation_p.E111K|ATXN7_ENST00000538065.1_Missense_Mutation_p.E111K|ATXN7_ENST00000295900.6_Missense_Mutation_p.E111K	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	111					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCTAGGGACAGAATTGGACGA	0.572													8	25					0	0	0	0	A	63898838	G	A	63898838	3	1	294	1	0	0	0	0	1	0	0	0	1219	943	33	2	337	2	ATXN7	3	63898838	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	8385382	63898838	134123592	55	52347											
SUCLG2	8801	broad.mit.edu	37	chr3	67571002	67571002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccattgcaggaccggtcCatcagaattgccaggtaggt	9	8	14	10	1	1	1	1	0	0	1	2	2	2	2	4	5	2	2	4	5	2	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:67571002C>A	ENST00000307227.5	-	5	501	c.474G>T	c.(472-474)atG>atT	p.M158I	SUCLG2_ENST00000493112.1_Missense_Mutation_p.M158I|SUCLG2_ENST00000492795.1_Missense_Mutation_p.M158I	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	158	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	AGGACCGGTCCATCAGAATTG	0.512													15	80					1.01871e-10	1.4353e-10	1	0	A	67571002	C	A	67571002	3	1	294	1	0	0	0	0	1	0	0	0	15455	594	21	4	996	4	SUCLG2	3	67571002	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	3672164	67571002	130451428	56	52348											
EPHA3	2042	broad.mit.edu	37	chr3	89480488	89480488	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcctggaggatgacccAgaagctgcttatacaacaag	12	8	11	10	1	0	2	0	1	0	1	1	4	1	4	2	2	4	2	2	2	5	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:89480488A>T	ENST00000336596.2	+	13	2550	c.2325A>T	c.(2323-2325)ccA>ccT	p.P775P	EPHA3_ENST00000494014.1_Silent_p.P775P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	775	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGGATGACCCAGAAGCTGCTT	0.393										TSP Lung(6;0.00050)			7	37					0	0	0	0	T	89480488	A	T	89480488	2	4	294	1	0	0	0	0	0	0	0	1	5206	175	7	5		5	EPHA3	3	89480488	Silent	SNP	A	TCGA-CV-7248-01A-11D-2012-08	21909486	89480488	108541942	57	52349											
DPPA2	151871	broad.mit.edu	37	chr3	109031461	109031461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacgcttggttccatttgttCcatatttgcgtcatctttaa	8	18	6	9	2	2	0	1	0	1	0	4	0	4	0	2	1	2	3	2	1	3	8			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:109031461C>T	ENST00000478945.1	-	3	358	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	38						nucleus	nucleic acid binding	p.E38K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCATTTGTTCCATATTTGCG	0.418													23	83					0	0	0	0	T	109031461	C	T	109031461	3	4	294	1	0	0	0	0	1	0	0	0	4770	864	30	2	808	2	DPPA2	3	109031461	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	19550973	109031461	88990969	58	52350											
DPPA2	151871	broad.mit.edu	37	chr3	109031510	109031510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcaaaatcacactttcCtcatcatctacttccccctc	10	13	2	16	0	5	0	4	0	1	0	8	0	7	0	3	0	1	0	3	0	3	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:109031510C>T	ENST00000478945.1	-	3	309	c.63G>A	c.(61-63)gaG>gaA	p.E21E		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	21						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCACACTTTCCTCATCATCTA	0.408													15	79					0	0	0	0	T	109031510	C	T	109031510	2	4	294	1	0	0	0	0	0	0	0	1	4770	680	24	4		4	DPPA2	3	109031510	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	49	109031510	88990920	59	52351											
FBXO40	51725	broad.mit.edu	37	chr3	121345686	121345686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttgactagcatgtgtcagCcccgtgagcaggcccgagag	8	9	13	11	2	1	3	1	2	0	1	1	4	1	3	3	1	3	2	3	1	1	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:121345686C>A	ENST00000338040.4	+	4	2473	c.2059C>A	c.(2059-2061)Ccc>Acc	p.P687T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	687					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.P687A(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CATGTGTCAGCCCCGTGAGCA	0.483													25	91					3.08376e-08	4.02657e-08	1	0	A	121345686	C	A	121345686	3	1	294	1	0	0	0	0	1	0	0	0	5794	739	26	4	2069	4	FBXO40	3	121345686	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	12314176	121345686	76676744	60	52352											
IGSF10	285313	broad.mit.edu	37	chr3	151163676	151163676	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtagtgaagccagaacTctggtctggagagatgtttg	9	11	16	5	0	2	3	0	1	2	2	2	5	2	4	1	3	2	2	1	3	3	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:151163676T>A	ENST00000282466.3	-	4	4092	c.4093A>T	c.(4093-4095)Agt>Tgt	p.S1365C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1365					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGCCAGAACTCTGGTCTGGA	0.473													51	303					0	0	0	0	A	151163676	T	A	151163676	3	1	294	1	0	0	0	0	1	0	0	0	7650	1551	54	5	3838	5	IGSF10	3	151163676	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	29817990	151163676	46858754	61	52353											
PLCH1	23007	broad.mit.edu	37	chr3	155200696	155200696	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcctgtgactgacatgTgggcagtagatacaatggtg	9	12	13	7	0	1	3	0	2	1	1	2	3	1	3	1	2	1	3	1	2	3	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:155200696T>G	ENST00000460012.1	-	23	3386	c.3029A>C	c.(3028-3030)cAc>cCc	p.H1010P	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.H1010P|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.H1010P|PLCH1_ENST00000340059.7_Missense_Mutation_p.H1048P			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1048					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACTGACATGTGGGCAGTAGA	0.488													24	90					0	0	0	0	G	155200696	T	G	155200696	3	3	294	1	0	0	0	0	1	0	0	0	12109	1696	59	5	1942	5	PLCH1	3	155200696	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	4037020	155200696	42821734	62	52354											
ECT2	1894	broad.mit.edu	37	chr3	172480522	172480522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgaaagatgcactcacCttgtagttgaagagaatata	16	10	10	5	0	1	5	1	2	0	3	1	7	1	5	1	0	1	3	1	0	6	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:172480522C>T	ENST00000417960.1	+	10	1312	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	ECT2_ENST00000427830.1_Missense_Mutation_p.L280F|ECT2_ENST00000441497.2_Missense_Mutation_p.L280F|ECT2_ENST00000540509.1_Missense_Mutation_p.L311F|ECT2_ENST00000232458.5_Missense_Mutation_p.L280F|ECT2_ENST00000392692.3_Missense_Mutation_p.L311F	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	280	BRCT 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATGCACTCACCTTGTAGTTGA	0.348													10	37					0	0	0	0	T	172480522	C	T	172480522	3	4	294	1	0	0	0	0	1	0	0	0	4937	681	24	4	868	4	ECT2	3	172480522	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	17279826	172480522	25541908	63	52355											
GABRB1	2560	broad.mit.edu	37	chr4	47163453	47163453	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatcgaatgattcgacTgcatcctgatggaacagttc	14	10	9	8	2	0	2	0	2	0	0	4	6	1	3	1	1	2	2	1	1	4	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:47163453T>C	ENST00000295454.3	+	4	720	c.428T>C	c.(427-429)cTg>cCg	p.L143P	GABRB1_ENST00000538619.1_Missense_Mutation_p.L73P	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	143					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGATTCGACTGCATCCTGAT	0.388													18	92					0	0	0	0	C	47163453	T	C	47163453	3	2	294	1	0	0	0	0	1	0	0	0	6214	1580	55	5	442	5	GABRB1	4	47163453	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08		47163453	143990823	64	52356											
NKX6-1	4825	broad.mit.edu	37	chr4	85414622	85414622	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgaggcgctctgtctcCgagtcctgcttcttcttggc	2	14	10	15	2	4	1	0	1	4	0	6	2	5	1	3	2	1	2	3	2	0	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:85414622C>G	ENST00000295886.4	-	3	1145	c.924G>C	c.(922-924)tcG>tcC	p.S308S	NKX6-1_ENST00000515820.2_Silent_p.S34S	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	308	Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GCTCTGTCTCCGAGTCCTGCT	0.597													40	67					0	0	0	0	G	85414622	C	G	85414622	2	3	294	1	0	0	0	0	0	0	0	1	10527	639	23	3		3	NKX6-1	4	85414622	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	38251169	85414622	105739654	65	52357											
ALPK1	80216	broad.mit.edu	37	chr4	113356374	113356374	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaactattgtctatttgggGgactacttgactgtgaagaa	12	13	11	5	0	1	3	0	2	1	1	1	5	1	4	0	2	2	0	0	2	6	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:113356374G>T	ENST00000458497.1	+	12	3384	c.3105G>T	c.(3103-3105)ggG>ggT	p.G1035G	ALPK1_ENST00000177648.9_Silent_p.G1035G|ALPK1_ENST00000504176.2_Silent_p.G957G	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1035	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCTATTTGGGGGACTACTTGA	0.348													42	127					6.33695e-27	1.02289e-26	1	0	T	113356374	G	T	113356374	2	4	294	1	0	0	0	0	0	0	0	1	544	1219	43	4		4	ALPK1	4	113356374	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	27941752	113356374	77797902	66	52358											
ANK2	287	broad.mit.edu	37	chr4	114163318	114163318	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagaggaaatacaaacatgGtgaagctcttactggatcga	17	8	10	6	1	1	2	0	1	1	1	2	5	1	4	0	3	4	1	0	3	6	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:114163318G>C	ENST00000357077.4	+	9	897	c.844G>C	c.(844-846)Gtg>Ctg	p.V282L	ANK2_ENST00000394537.3_Missense_Mutation_p.V282L|ANK2_ENST00000264366.6_Missense_Mutation_p.V282L|ANK2_ENST00000506722.1_Missense_Mutation_p.V261L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	282					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TACAAACATGGTGAAGCTCTT	0.438													13	32					0	0	0	0	C	114163318	G	C	114163318	3	2	294	1	0	0	0	0	1	0	0	0	621	1261	44	4	903	4	ANK2	4	114163318	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	806944	114163318	76990958	67	52359											
DCHS2	54798	broad.mit.edu	37	chr4	155249332	155249332	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccaacatatttactggttGaccttccagaacctgccatt	12	12	5	12	0	0	2	0	1	0	1	1	2	1	2	5	1	5	1	5	1	5	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:155249332G>A	ENST00000357232.3	-	12	2565	c.2566C>T	c.(2566-2568)Caa>Taa	p.Q856*	DCHS2_ENST00000339452.1_Nonsense_Mutation_p.Q1311*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	856	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTACTGGTTGACCTTCCAGA	0.333													20	37					0	0	0	0	A	155249332	G	A	155249332	4	1	294	1	0	0	0	0	0	1	0	0	4320	1299	45	2	6336	2	DCHS2	4	155249332	Nonsense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	41086014	155249332	35904944	68	52360											
TLL1	7092	broad.mit.edu	37	chr4	166916211	166916211	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taacatcacacattttttctAggcagccagagagccatgtt	12	12	7	10	0	2	1	1	0	1	1	2	2	2	1	2	1	3	2	2	1	2	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:166916211A>G	ENST00000061240.2	+	5	1161		c.e5-1		TLL1_ENST00000507499.1_Splice_Site|TLL1_ENST00000513213.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CATTTTTTCTAGGCAGCCAGA	0.458													26	63					0	0	0	0	G	166916211	A	G	166916211	5	3	294	1	0	0	0	0	0	0	1	0	16039	434	15	5	531	5	TLL1	4	166916211	Splice_Site	SNP	A	TCGA-CV-7248-01A-11D-2012-08	11666879	166916211	24238065	69	52361											
CDH10	1008	broad.mit.edu	37	chr5	24511436	24511436	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatatggatgctgtgcacCtttttcacagtgatgatgcc	8	16	9	8	0	1	2	1	2	0	0	1	3	1	3	2	1	3	2	2	1	2	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:24511436C>A	ENST00000264463.4	-	6	1509	c.1002_splice	c.e6+1	p.K334_splice		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	334	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGCTGTGCACCTTTTTCACAG	0.403										HNSCC(23;0.051)			21	78					5.26018e-13	7.7024e-13	1	0	A	24511436	C	A	24511436	5	1	294	1	0	0	0	0	0	0	1	0	3125	695	24	4	1392	4	CDH10	5	24511436	Splice_Site	SNP	C	TCGA-CV-7248-01A-11D-2012-08		24511436	156403824	70	52362											
LIFR	3977	broad.mit.edu	37	chr5	38486030	38486030	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgaagatcagcaattctCagtgtcttctgggatatgtc	9	14	9	9	0	4	2	2	1	3	1	6	3	4	3	1	1	1	1	1	1	3	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:38486030C>T	ENST00000263409.4	-	17	2550	c.2388G>A	c.(2386-2388)ctG>ctA	p.L796L	LIFR_ENST00000453190.2_Silent_p.L796L	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	796	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAGCAATTCTCAGTGTCTTCT	0.398			T	PLAG1	salivary adenoma								9	44					0	0	0	0	T	38486030	C	T	38486030	2	4	294	1	0	0	0	0	0	0	0	1	8834	813	29	2		2	LIFR	5	38486030	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	13974594	38486030	142429230	71	52363											
MCTP1	79772	broad.mit.edu	37	chr5	94259701	94259701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acttcacagagaaataagatCcaaccacttcattttctgaa	16	11	4	10	0	3	3	2	1	1	2	4	4	4	3	2	0	1	0	2	0	4	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:94259701C>T	ENST00000515393.1	-	7	1237	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	MCTP1_ENST00000312216.8_Missense_Mutation_p.G192E|MCTP1_ENST00000505208.1_Missense_Mutation_p.G192E|MCTP1_ENST00000505078.1_Intron|MCTP1_ENST00000429576.2_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	413					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GAAATAAGATCCAACCACTTC	0.269													3	25					0	0	0	0	T	94259701	C	T	94259701	3	4	294	1	0	0	0	0	1	0	0	0	9469	855	30	2	1829	2	MCTP1	5	94259701	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	55773671	94259701	86655559	72	52364											
APC	324	broad.mit.edu	37	chr5	112175846	112175846	+	Frame_Shift_Del	DEL	G	G	-																															atgagccatttatacagaaaGatgtggaattaagaataatg																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:112175846delG	ENST00000457016.1	+	16	4935	c.4555delG	c.(4555-4557)atfs	p.D1519fs	APC_ENST00000508376.2_Frame_Shift_Del_p.D1519fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.D1519fs			P25054	APC_HUMAN	adenomatous polyposis coli	1519	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.D1519N(1)|p.K1454fs*3(1)|p.D1519fs*2(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATACAGAAAGATGTGGAATT	0.388		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			13	37	---	---	---	---					-	112175846	G	-	112175846	7	5	294	1	0	1	0	1	0	0	0	0	764	942	33	0	4613	0	APC	5	112175846	Frame_Shift_Del	DEL	G	TCGA-CV-7248-01A-11D-2012-08	17916145	112175846	68739414	73	52365											
ADAMTS19	171019	broad.mit.edu	37	chr5	128958005	128958005	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgaacaatgccagatcctTtttgggccattggcttcttt	8	15	9	9	0	1	2	0	1	1	1	2	3	2	2	3	2	2	1	3	2	2	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:128958005T>C	ENST00000274487.4	+	10	1861	c.1716T>C	c.(1714-1716)ctT>ctC	p.L572L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	572	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCCAGATCCTTTTTGGGCCAT	0.448													7	25					0	0	0	0	C	128958005	T	C	128958005	2	2	294	1	0	0	0	0	0	0	0	1	264	1828	64	5		5	ADAMTS19	5	128958005	Silent	SNP	T	TCGA-CV-7248-01A-11D-2012-08	16782159	128958005	51957255	74	52366											
ADAMTS19	171019	broad.mit.edu	37	chr5	129070697	129070697	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataagatcacaggaagacatGgaaatgaatgtttttcctca	16	11	8	6	0	2	3	2	1	0	2	3	5	3	5	1	2	0	1	1	2	4	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:129070697G>T	ENST00000274487.4	+	22	3512	c.3367G>T	c.(3367-3369)Gga>Tga	p.G1123*	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1123	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGGAAGACATGGAAATGAATG	0.408													23	46					1.55469e-16	2.38736e-16	1	0	T	129070697	G	T	129070697	4	4	294	1	0	0	0	0	0	1	0	0	264	1349	47	4	3453	4	ADAMTS19	5	129070697	Nonsense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	112692	129070697	51844563	75	52367											
PCDHA13	56136	broad.mit.edu	37	chr5	140262292	140262292	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taatcattgcagaatctagaCctccggaaactcgatttcca	13	11	6	11	2	2	2	1	0	1	2	5	4	4	3	3	1	2	1	3	1	4	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140262292C>A	ENST00000289272.2	+	1	439	c.439C>A	c.(439-441)Cct>Act	p.P147T	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P147T|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATCTAGACCTCCGGAAAC	0.463													25	74					2.21704e-12	3.17827e-12	1	0	A	140262292	C	A	140262292	3	1	294	1	0	0	0	0	1	0	0	0	11594	507	18	4	441	4	PCDHA13	5	140262292	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	11191595	140262292	40652968	76	52368											
PCDHAC2	56134	broad.mit.edu	37	chr5	140346697	140346697	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgctgtgtgagcagcggcctCgctgcctgctcagcttggaa	5	9	14	13	3	1	1	1	1	0	0	2	2	1	2	2	2	5	5	2	2	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140346697C>G	ENST00000289269.5	+	1	878	c.346C>G	c.(346-348)Cgc>Ggc	p.R116G	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		116	Cadherin 1.				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)			GCAGCGGCCTCGCTGCCTGCT	0.637													13	37					0	0	0	0	G	140346697	C	G	140346697	3	3	294	1	0	0	0	0	1	0	0	0	11604	884	31	3	348	3	PCDHAC2	5	140346697	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	84405	140346697	40568563	77	52369											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712526	140712526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctattcccacgaggtctccCtcactgcggactcgcggaag	7	8	10	16	4	2	0	1	0	1	0	5	3	3	2	3	3	1	0	3	3	2	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140712526C>A	ENST00000517417.1	+	1	2275	c.2275C>A	c.(2275-2277)Ctc>Atc	p.L759I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.L759I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGGTCTCCCTCACTGCGGA	0.592													38	137					1.32136e-16	2.03668e-16	1	0	A	140712526	C	A	140712526	3	1	294	1	0	0	0	0	1	0	0	0	11621	681	24	4	2277	4	PCDHGA1	5	140712526	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	365829	140712526	40202734	78	52370											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720341	140720341	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagagactcgggccagaaCgcctggctgtcttaccacct	9	7	11	14	2	1	2	0	0	1	2	2	4	1	2	4	2	2	1	4	2	2	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140720341C>T	ENST00000394576.2	+	1	1803	c.1803C>T	c.(1801-1803)aaC>aaT	p.N601N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCCAGAACGCCTGGCTGT	0.692													26	113					0	0	0	0	T	140720341	C	T	140720341	2	4	294	1	0	0	0	0	0	0	0	1	11625	535	19	1		1	PCDHGA2	5	140720341	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	7815	140720341	40194919	79	52371											
TCERG1	10915	broad.mit.edu	37	chr5	145838779	145838779	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaagcacaagcagttggAgcttccacccctacgaccag	11	6	10	14	1	0	0	0	0	0	0	1	2	1	1	4	1	5	5	4	1	3	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:145838779A>G	ENST00000296702.5	+	4	809	c.771A>G	c.(769-771)ggA>ggG	p.G257G	TCERG1_ENST00000394421.2_Silent_p.G257G	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	257	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGTTGGAGCTTCCACCC	0.587													3	115					0	0	0	0	G	145838779	A	G	145838779	2	3	294	1	0	0	0	0	0	0	0	1	15779	291	11	5		5	TCERG1	5	145838779	Silent	SNP	A	TCGA-CV-7248-01A-11D-2012-08	5118438	145838779	35076481	80	52372											
DUSP22	56940	broad.mit.edu	37	chr6	348139	348139	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagcgtgacactggtgatCgcatacatcatgaccgtcac	11	8	11	11	3	2	3	2	3	0	0	3	4	2	4	1	2	2	1	1	2	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:348139C>T	ENST00000419235.2	+	6	378	c.300C>T	c.(298-300)atC>atT	p.I100I	DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.I100I|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	100	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I100M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CACTGGTGATCGCATACATCA	0.607													6	238					0	0	0	0	T	348139	C	T	348139	2	4	294	1	0	0	0	0	0	0	0	1	4857	874	31	1		1	DUSP22	6	348139	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08		348139	170766928	81	52373											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158752	26158752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggagggcaccaaggccGtcaccaagtacaccagttcc	10	6	11	14	2	1	0	1	0	0	0	3	1	2	1	5	3	1	3	5	3	3	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:26158752G>T	ENST00000289316.2	+	1	379	c.355G>T	c.(355-357)Gtc>Ttc	p.V119F	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.V119F	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	119					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CACCAAGGCCGTCACCAAGTA	0.552													23	68					2.21704e-12	3.17827e-12	1	0	T	26158752	G	T	26158752	3	4	294	1	0	0	0	0	1	0	0	0	7193	1145	40	3	357	3	HIST1H2BD	6	26158752	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	25810613	26158752	144956315	82	52374											
OR2W1	26692	broad.mit.edu	37	chr6	29012922	29012922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaagcagaataaaacCatgtaaagaactataattgc	20	7	7	7	0	0	2	0	0	0	2	0	3	0	2	2	0	5	2	2	0	10	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:29012922C>T	ENST00000377175.1	-	1	95	c.31G>A	c.(31-33)Ggt>Agt	p.G11S		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGAATAAAACCATGTAAAGAA	0.403													15	41					0	0	0	0	T	29012922	C	T	29012922	3	4	294	1	0	0	0	0	1	0	0	0	11103	594	21	4	935	4	OR2W1	6	29012922	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	2854170	29012922	142102145	83	52375											
KCNK5	8645	broad.mit.edu	37	chr6	39159385	39159385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggactccttccgtcgccGccgccgcttcttaatggctt	6	11	9	15	5	1	0	0	0	1	0	4	1	3	1	5	2	0	2	5	2	2	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:39159385G>A	ENST00000359534.3	-	5	1119	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	261					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTCCGTCGCCGCCGCCGCTTC	0.572													10	99					0	0	0	0	A	39159385	G	A	39159385	3	1	294	1	0	0	0	0	1	0	0	0	8122	1086	38	1	722	1	KCNK5	6	39159385	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	10146463	39159385	131955682	84	52376											
KHDRBS2	202559	broad.mit.edu	37	chr6	62604606	62604606	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggcactgttggtgccccCcgggctcgaggggtagggac	4	7	17	13	2	0	0	0	0	0	0	1	2	0	1	4	6	1	4	4	6	1	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:62604606C>A	ENST00000281156.4	-	6	1022	c.744G>T	c.(742-744)cgG>cgT	p.R248R		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	248	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTGGTGCCCCCCGGGCTCGAG	0.552													17	47					1.99824e-07	2.52863e-07	1	0	A	62604606	C	A	62604606	2	1	294	1	0	0	0	0	0	0	0	1	8198	610	22	4		4	KHDRBS2	6	62604606	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	23445221	62604606	108510461	85	52377											
KHDRBS2	202559	broad.mit.edu	37	chr6	62887094	62887094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatatatggtagtacctttGgatactgcttgacaggaatc	11	14	10	6	0	0	1	0	1	0	0	1	3	0	3	1	3	3	4	1	3	7	8			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:62887094G>T	ENST00000281156.4	-	2	493	c.215C>A	c.(214-216)cCa>cAa	p.P72Q		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	72	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TAGTACCTTTGGATACTGCTT	0.289													5	26					0.00116845	0.00129127	1	0	T	62887094	G	T	62887094	3	4	294	1	0	0	0	0	1	0	0	0	8198	1348	47	4	866	4	KHDRBS2	6	62887094	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	282488	62887094	108227973	86	52378											
EYS	346007	broad.mit.edu	37	chr6	66044934	66044934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactcattttcttgatcatCagttgtattttccagataca	11	17	4	9	0	4	2	3	1	1	1	5	2	5	2	1	0	1	2	1	0	2	8			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:66044934C>T	ENST00000503581.1	-	11	2242	c.1705G>A	c.(1705-1707)Gat>Aat	p.D569N	EYS_ENST00000370621.3_Missense_Mutation_p.D569N|EYS_ENST00000393380.2_Missense_Mutation_p.D569N|EYS_ENST00000342421.5_Missense_Mutation_p.D569N|EYS_ENST00000370616.2_Missense_Mutation_p.D569N|EYS_ENST00000370618.3_Missense_Mutation_p.D569N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	569	EGF-like 6.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTTGATCATCAGTTGTATTT	0.353													5	58					0	0	0	0	T	66044934	C	T	66044934	3	4	294	1	0	0	0	0	1	0	0	0	5370	826	29	2	7823	2	EYS	6	66044934	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	3157840	66044934	105070133	87	52379											
EYS	346007	broad.mit.edu	37	chr6	66094281	66094281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtattaaattacttacttTgaatcttccaattatattga	14	19	3	5	0	1	2	0	2	1	0	2	2	2	2	1	0	2	1	1	0	9	9			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:66094281T>C	ENST00000503581.1	-	8	1834	c.1297A>G	c.(1297-1299)Aaa>Gaa	p.K433E	EYS_ENST00000370621.3_Missense_Mutation_p.K433E|EYS_ENST00000393380.2_Missense_Mutation_p.K433E|EYS_ENST00000342421.5_Missense_Mutation_p.K433E|EYS_ENST00000370616.2_Missense_Mutation_p.K433E|EYS_ENST00000370618.3_Missense_Mutation_p.K433E	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	433					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTACTTACTTTGAATCTTCCA	0.318													8	32					0	0	0	0	C	66094281	T	C	66094281	3	2	294	1	0	0	0	0	1	0	0	0	5370	1821	63	5	8243	5	EYS	6	66094281	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	49347	66094281	105020786	88	52380											
BAI3	577	broad.mit.edu	37	chr6	69349246	69349246	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccctgaatgagcagacaGagggctgcctgacccaggag	11	5	13	12	0	0	5	0	3	0	2	0	6	0	6	4	2	3	2	4	2	2	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:69349246G>T	ENST00000370598.1	+	3	1500	c.679G>T	c.(679-681)Gag>Tag	p.E227*		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	227					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGAGCAGACAGAGGGCTGCCT	0.532													6	36					0.00116845	0.00129127	1	0	T	69349246	G	T	69349246	4	4	294	1	0	0	0	0	0	1	0	0	1304	943	33	2	681	2	BAI3	6	69349246	Nonsense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	3254965	69349246	101765821	89	52381											
BAI3	577	broad.mit.edu	37	chr6	69684742	69684742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggcattcaatcaatgtcCcctgaatgccacaggtacag	11	10	8	12	0	2	1	2	1	0	0	3	1	3	1	3	2	2	2	3	2	4	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:69684742C>T	ENST00000370598.1	+	9	2434	c.1613C>T	c.(1612-1614)cCc>cTc	p.P538L		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	538					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATCAATGTCCCCTGAATGCC	0.443													13	33					0	0	0	0	T	69684742	C	T	69684742	3	4	294	1	0	0	0	0	1	0	0	0	1304	623	22	4	1639	4	BAI3	6	69684742	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	335496	69684742	101430325	90	52382											
FRK	2444	broad.mit.edu	37	chr6	116288845	116288845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctatctcccattggtccacgGttttatacgacaaatcaaat	12	13	5	11	2	2	0	1	0	1	0	4	1	3	0	2	2	1	1	2	2	5	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:116288845G>A	ENST00000606080.1	-	4	1114	c.668C>T	c.(667-669)aCc>aTc	p.T223I	FRK_ENST00000538210.1_Missense_Mutation_p.T81I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	223					negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TTGGTCCACGGTTTTATACGA	0.388													13	53					0	0	0	0	A	116288845	G	A	116288845	3	1	294	1	0	0	0	0	1	0	0	0	6096	1261	44	4	869	4	FRK	6	116288845	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	46604103	116288845	54826222	91	52383											
LAMA2	3908	broad.mit.edu	37	chr6	129762020	129762020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaagccaacgacacagctAaagatgtactggcacagatt	16	6	9	10	1	0	2	0	0	0	2	0	4	0	2	1	1	4	3	1	1	5	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:129762020A>G	ENST00000421865.2	+	43	6194	c.6145A>G	c.(6145-6147)Aaa>Gaa	p.K2049E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2049	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGACACAGCTAAAGATGTACT	0.453													7	47					0	0	0	0	G	129762020	A	G	129762020	3	3	294	1	0	0	0	0	1	0	0	0	8659	363	13	5	6315	5	LAMA2	6	129762020	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	13473175	129762020	41353047	92	52384											
ENPP1	5167	broad.mit.edu	37	chr6	132206176	132206176	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactttgattatgatggacGttgtgattccttagagaatc	10	16	10	5	1	0	5	0	4	0	1	2	7	1	6	1	1	0	1	1	1	3	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:132206176G>C	ENST00000360971.2	+	23	2437	c.2417G>C	c.(2416-2418)cGt>cCt	p.R806P		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	806	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TATGATGGACGTTGTGATTCC	0.398													8	38					0	0	0	0	C	132206176	G	C	132206176	3	2	294	1	0	0	0	0	1	0	0	0	5167	1145	40	3	2507	3	ENPP1	6	132206176	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	2444156	132206176	38908891	93	52385											
UTRN	7402	broad.mit.edu	37	chr6	145157526	145157526	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagagtcgattatatctcCccatcacacgtctgaggatt	10	11	8	12	2	3	2	1	1	2	1	5	4	3	3	3	1	0	0	3	1	2	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:145157526C>G	ENST00000367545.3	+	70	9914	c.9914C>G	c.(9913-9915)cCc>cGc	p.P3305R	UTRN_ENST00000367526.4_Missense_Mutation_p.P860R	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3305					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTATATCTCCCCATCACACG	0.502													29	125					0	0	0	0	G	145157526	C	G	145157526	3	3	294	1	0	0	0	0	1	0	0	0	17199	623	22	4	10192	4	UTRN	6	145157526	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	12951350	145157526	25957541	94	52386											
SYNE1	23345	broad.mit.edu	37	chr6	152655143	152655143	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggagaatttctgttacCtggccaagttatcccattct	9	14	8	10	0	2	1	0	0	2	1	3	2	3	1	3	2	1	2	3	2	4	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:152655143C>G	ENST00000367255.5	-	77	13395	c.12794_splice	c.e77+1	p.R4265_splice	SYNE1_ENST00000341594.5_Splice_Site_p.R4130_splice|SYNE1_ENST00000448038.1_Splice_Site_p.R4194_splice|SYNE1_ENST00000423061.1_Splice_Site_p.R4194_splice|SYNE1_ENST00000265368.4_Splice_Site_p.R4265_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4265					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCTGTTACCTGGCCAAGTT	0.393										HNSCC(10;0.0054)			16	82					0	0	0	0	G	152655143	C	G	152655143	5	3	294	1	0	0	0	0	0	0	1	0	15536	695	24	4	13952	4	SYNE1	6	152655143	Splice_Site	SNP	C	TCGA-CV-7248-01A-11D-2012-08	7497617	152655143	18459924	95	52387											
SYNE1	23345	broad.mit.edu	37	chr6	152674536	152674536	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattctgattcctccaaactCtgaatctcctcctccaggaa	10	12	5	14	0	3	2	0	2	3	0	8	4	7	3	5	1	1	0	5	1	3	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:152674536C>T	ENST00000367255.5	-	69	11716	c.11115G>A	c.(11113-11115)caG>caA	p.Q3705Q	SYNE1_ENST00000341594.5_Silent_p.Q3676Q|SYNE1_ENST00000448038.1_Silent_p.Q3690Q|SYNE1_ENST00000423061.1_Silent_p.Q3690Q|SYNE1_ENST00000265368.4_Silent_p.Q3705Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3705					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCCAAACTCTGAATCTCCT	0.388										HNSCC(10;0.0054)			9	44					0	0	0	0	T	152674536	C	T	152674536	2	4	294	1	0	0	0	0	0	0	0	1	15536	912	32	2		2	SYNE1	6	152674536	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	19393	152674536	18440531	96	52388											
UNC93A	54346	broad.mit.edu	37	chr6	167708043	167708043	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggcctgggtgtcacagcGctcagcaccctctatggagg	7	7	15	12	1	3	0	2	0	1	0	3	2	3	1	2	4	2	2	2	4	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:167708043G>T	ENST00000230256.3	+	2	301	c.126G>T	c.(124-126)gcG>gcT	p.A42A	UNC93A_ENST00000366829.2_Silent_p.A42A|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	42						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTGTCACAGCGCTCAGCACCC	0.617													102	114					3.71036e-49	6.08499e-49	1	0	T	167708043	G	T	167708043	2	4	294	1	0	0	0	0	0	0	0	1	17092	1074	38	3		3	UNC93A	6	167708043	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	15033507	167708043	3407024	97	52389											
THSD7A	221981	broad.mit.edu	37	chr7	11514030	11514030	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcatgccgacagagCaggaggcctccccattccaa	9	8	10	14	1	1	1	0	0	1	1	3	3	3	2	5	2	3	2	5	2	1	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:11514030C>A	ENST00000423059.3	-	8	2434	c.2183G>T	c.(2182-2184)tGc>tTc	p.C728F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	728	TSP type-1 7.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCGACAGAGCAGGAGGCCTC	0.507										HNSCC(18;0.044)			13	57					7.03913e-09	9.46243e-09	1	0	A	11514030	C	A	11514030	3	1	294	1	0	0	0	0	1	0	0	0	15973	710	25	4	2870	4	THSD7A	7	11514030	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08		11514030	147624633	98	52390											
CDCA7L	55536	broad.mit.edu	37	chr7	21942677	21942677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcacagcggccgtcaCgcttccgacagtagctgcaa	8	7	12	14	4	1	0	1	0	0	0	2	1	2	0	2	2	3	5	2	2	2	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:21942677C>A	ENST00000406877.3	-	9	1532	c.1253G>T	c.(1252-1254)cGt>cTt	p.R418L	CDCA7L_ENST00000373934.4_Missense_Mutation_p.R372L|CDCA7L_ENST00000356195.5_Missense_Mutation_p.R384L	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	418					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GCGGCCGTCACGCTTCCGACA	0.493													9	39					0.000442599	0.000497166	1	0	A	21942677	C	A	21942677	3	1	294	1	0	0	0	0	1	0	0	0	3120	536	19	3	119	3	CDCA7L	7	21942677	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	10428647	21942677	137195986	99	52391											
NFE2L3	9603	broad.mit.edu	37	chr7	26217588	26217588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtactaagagaaaagcAcgaagctgtggatcatagtt	14	9	13	5	1	1	1	1	0	0	1	1	4	1	2	0	3	3	4	0	3	6	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:26217588A>G	ENST00000056233.3	+	2	855	c.596A>G	c.(595-597)cAc>cGc	p.H199R		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	199					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGAGAAAAGCACGAAGCTGTG	0.393													12	58					0	0	0	0	G	26217588	A	G	26217588	3	3	294	1	0	0	0	0	1	0	0	0	10439	159	6	5	602	5	NFE2L3	7	26217588	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	4274911	26217588	132921075	100	52392											
HNRNPA2B1	3181	broad.mit.edu	37	chr7	26236079	26236079	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatttccaccgccaccacgTgaatccccaaagccaaagtt	14	7	5	15	2	0	1	0	1	0	0	2	1	2	1	7	0	1	1	7	0	4	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:26236079T>G	ENST00000354667.4	-	7	804	c.636A>C	c.(634-636)tcA>tcC	p.S212S	HNRNPA2B1_ENST00000356674.7_Silent_p.S200S	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	212	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CGCCACCACGTGAATCCCCAA	0.408			T	ETV1	prostate								18	66					0	0	0	0	G	26236079	T	G	26236079	2	3	294	1	0	0	0	0	0	0	0	1	7309	1683	59	5		5	HNRNPA2B1	7	26236079	Silent	SNP	T	TCGA-CV-7248-01A-11D-2012-08	18491	26236079	132902584	101	52393											
AMPH	273	broad.mit.edu	37	chr7	38471788	38471788	+	Splice_Site	DEL	C	C	-																															acagagttattagtggcttaCcgtccataggtcccagggca																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:38471788delC	ENST00000356264.2	-	13	1374		c.e13+1		AMPH_ENST00000428293.2_Splice_Site|AMPH_ENST00000325590.5_Splice_Site	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TAGTGGCTTACCGTCCATAGG	0.328													18	60	---	---	---	---					-	38471788	C	-	38471788	8	5	294	1	0	1	0	1	0	0	1	0	588	521	18	0	964	0	AMPH	7	38471788	Splice_Site	DEL	C	TCGA-CV-7248-01A-11D-2012-08	12235709	38471788	120666875	102	52394											
AMPH	273	broad.mit.edu	37	chr7	38530673	38530673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcaggaaattgccccaGgtaggtatccagtgttagca	11	11	11	8	0	1	0	1	0	0	0	2	1	2	1	3	3	2	4	3	3	5	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:38530673G>T	ENST00000356264.2	-	5	588	c.373C>A	c.(373-375)Ctg>Atg	p.L125M	AMPH_ENST00000325590.5_Missense_Mutation_p.L125M|AMPH_ENST00000428293.2_Missense_Mutation_p.L125M	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	125	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AATTGCCCCAGGTAGGTATCC	0.413													33	155					3.76114e-14	5.58719e-14	1	0	T	38530673	G	T	38530673	3	4	294	1	0	0	0	0	1	0	0	0	588	991	35	4	1782	4	AMPH	7	38530673	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	58885	38530673	120607990	103	52395											
POM121L12	285877	broad.mit.edu	37	chr7	53103954	53103954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggttcgacgggccgttgtGgttcgaggtctcagacagca	7	10	15	9	4	1	1	1	0	1	1	4	3	1	1	1	4	1	4	1	4	1	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:53103954G>T	ENST00000408890.4	+	1	606	c.590G>T	c.(589-591)tGg>tTg	p.W197L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	197										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGCCGTTGTGGTTCGAGGTC	0.672													15	71					0.000219431	0.000249908	1	0	T	53103954	G	T	53103954	3	4	294	1	0	0	0	0	1	0	0	0	12313	1357	47	4	592	4	POM121L12	7	53103954	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	14573281	53103954	106034709	104	52396											
PCLO	27445	broad.mit.edu	37	chr7	82585852	82585852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagtgtctttcctttcttCttgactctctttgatctcct	6	20	4	11	0	5	2	0	2	5	0	8	2	6	2	2	0	0	0	2	0	2	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:82585852C>T	ENST00000423517.2	-	5	4754	c.4417G>A	c.(4417-4419)Gaa>Aaa	p.E1473K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1473K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1404					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCCTTTCTTCTTGACTCTCT	0.363													9	47					0	0	0	0	T	82585852	C	T	82585852	3	4	294	1	0	0	0	0	1	0	0	0	11654	922	32	2	11112	2	PCLO	7	82585852	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	29481898	82585852	76552811	105	52397											
GRM3	2913	broad.mit.edu	37	chr7	86468529	86468529	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgctatgaccttcctGaggactacatcaggtgggaa	10	10	12	9	0	1	2	1	2	0	0	2	5	2	5	2	4	2	1	2	4	3	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:86468529G>T	ENST00000361669.2	+	4	2798	c.1699G>T	c.(1699-1701)Gag>Tag	p.E567*	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Nonsense_Mutation_p.E159*|GRM3_ENST00000536043.1_Nonsense_Mutation_p.E439*|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	567					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGACCTTCCTGAGGACTACAT	0.498													15	91					7.93312e-07	9.76751e-07	1	0	T	86468529	G	T	86468529	4	4	294	1	0	0	0	0	0	1	0	0	6848	1291	45	2	1709	2	GRM3	7	86468529	Nonsense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	3882677	86468529	72670134	106	52398											
ABCB1	5243	broad.mit.edu	37	chr7	87135257	87135257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacgtggcttcatccaaaaGcaaaatatgaggctgtctaa	14	10	9	8	1	2	2	1	2	1	0	3	2	3	2	1	2	1	3	1	2	6	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:87135257G>C	ENST00000265724.3	-	28	4009	c.3592C>G	c.(3592-3594)Ctt>Gtt	p.L1198V	ABCB1_ENST00000543898.1_Missense_Mutation_p.L1134V|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1198	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCATCCAAAAGCAAAATATGA	0.418													10	36					0	0	0	0	C	87135257	G	C	87135257	3	2	294	1	0	0	0	0	1	0	0	0	40	971	34	4	258	4	ABCB1	7	87135257	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	666728	87135257	72003406	107	52399											
AKAP9	10142	broad.mit.edu	37	chr7	91671405	91671405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtttcagagagagagaggGtgcttttagaggagctggaa	11	10	17	3	0	1	4	1	0	0	4	1	8	1	6	0	4	2	3	0	4	2	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:91671405G>T	ENST00000359028.2	+	20	5224	c.4999G>T	c.(4999-5001)Gtg>Ttg	p.V1667L	AKAP9_ENST00000358100.2_Missense_Mutation_p.V1667L|AKAP9_ENST00000356239.3_Missense_Mutation_p.V1655L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1667					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAGAGAGAGGGTGCTTTTAGA	0.423			T	BRAF	papillary thyroid								9	37					2.74318e-10	3.82552e-10	1	0	T	91671405	G	T	91671405	3	4	294	1	0	0	0	0	1	0	0	0	459	1261	44	4	5037	4	AKAP9	7	91671405	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	4536148	91671405	67467258	108	52400											
CASD1	64921	broad.mit.edu	37	chr7	94146967	94146967	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcataaatacaaaatcAggtaacatttcttcattttg	15	15	5	6	0	3	1	2	1	1	0	3	1	3	1	0	1	3	2	0	1	6	7			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:94146967A>T	ENST00000297273.4	+	2	516	c.230_splice	c.e2+1	p.S77_splice		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	77						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATACAAAATCAGGTAACATTT	0.378													5	44					0	0	0	0	T	94146967	A	T	94146967	5	4	294	1	0	0	0	0	0	0	1	0	2689	202	7	5	235	5	CASD1	7	94146967	Splice_Site	SNP	A	TCGA-CV-7248-01A-11D-2012-08	2475562	94146967	64991696	109	52401											
GIGYF1	64599	broad.mit.edu	37	chr7	100281723	100281723	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcggcggcggtggtggCggtgtcaggtcccccagagc	3	7	20	11	4	1	1	1	0	0	1	2	1	2	1	2	8	1	0	2	8	0	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:100281723C>G	ENST00000275732.5	-	15	2997	c.1788G>C	c.(1786-1788)ccG>ccC	p.P596P		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	596	Gln-rich.|Poly-Pro.							p.P315P(1)|p.P596P(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCGGTGGTGGCGGTGTCAGGT	0.687													11	41					0	0	0	0	G	100281723	C	G	100281723	2	3	294	1	0	0	0	0	0	0	0	1	6428	755	27	3		3	GIGYF1	7	100281723	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	6134756	100281723	58856940	110	52402											
CUX1	1523	broad.mit.edu	37	chr7	101813749	101813749	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggtggctcagagagaGgcggagaccttaagggaaca	13	4	17	7	1	1	4	1	0	0	4	1	7	1	5	1	5	1	2	1	5	2	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:101813749G>A	ENST00000360264.3	+	10	800	c.780G>A	c.(778-780)gaG>gaA	p.E260E	CUX1_ENST00000437600.4_Silent_p.E260E|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Silent_p.E249E|CUX1_ENST00000550008.2_Silent_p.E249E|CUX1_ENST00000547394.2_Silent_p.E244E|CUX1_ENST00000546411.2_Silent_p.E249E|CUX1_ENST00000393824.3_Silent_p.E223E|CUX1_ENST00000425244.2_Silent_p.E214E|CUX1_ENST00000292535.7_Silent_p.E249E|CUX1_ENST00000292538.4_Silent_p.E260E|CUX1_ENST00000549414.2_Silent_p.E249E	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	249					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTCAGAGAGAGGCGGAGACCT	0.517													3	4					0	0	0	0	A	101813749	G	A	101813749	2	1	294	1	0	0	0	0	0	0	0	1	4096	991	35	4		4	CUX1	7	101813749	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1532026	101813749	57324914	111	52403											
PMPCB	9512	broad.mit.edu	37	chr7	102952105	102952105	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggatgcgactctgtacAagtgtcacagaaagtgaggt	12	11	12	6	1	2	2	1	1	1	1	2	4	2	3	0	2	2	1	0	2	4	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:102952105A>T	ENST00000249269.4	+	10	1208	c.1170A>T	c.(1168-1170)acA>acT	p.T390T	PMPCB_ENST00000420236.2_Silent_p.T285T|PMPCB_ENST00000428154.1_Silent_p.T390T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	390					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GACTCTGTACAAGTGTCACAG	0.363													5	33					0	0	0	0	T	102952105	A	T	102952105	2	4	294	1	0	0	0	0	0	0	0	1	12213	117	5	5		5	PMPCB	7	102952105	Silent	SNP	A	TCGA-CV-7248-01A-11D-2012-08	1138356	102952105	56186558	112	52404											
RELN	5649	broad.mit.edu	37	chr7	103179743	103179743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatcatcttccaagaccGtattaccagaaatatttcct	14	13	4	10	1	2	3	1	1	1	2	4	3	4	3	4	0	1	1	4	0	6	5	rs116065504	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:103179743G>T	ENST00000428762.1	-	45	7121	c.6962C>A	c.(6961-6963)aCg>aAg	p.T2321K	RELN_ENST00000343529.5_Missense_Mutation_p.T2321K|RELN_ENST00000424685.2_Missense_Mutation_p.T2321K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2321					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCAAGACCGTATTACCAGA	0.393													7	29					0.00198382	0.0021806	1	0	T	103179743	G	T	103179743	3	4	294	1	0	0	0	0	1	0	0	0	13302	1145	40	3	3504	3	RELN	7	103179743	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	227638	103179743	55958920	113	52405											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518605	113518605	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtaatgacccatgaggAttcttccacagatgttatat	11	15	7	8	0	2	3	0	2	2	1	3	4	3	4	2	1	0	2	2	1	3	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:113518605A>G	ENST00000284601.3	-	4	2610	c.2542T>C	c.(2542-2544)Tcc>Ccc	p.S848P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	848					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACCCATGAGGATTCTTCCACA	0.373													3	127					0	0	0	0	G	113518605	A	G	113518605	3	3	294	1	0	0	0	0	1	0	0	0	12447	333	12	5	830	5	PPP1R3A	7	113518605	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	10338862	113518605	45620058	114	52406											
IQUB	154865	broad.mit.edu	37	chr7	123097469	123097469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagcttgagatgagcagctGcttcatctttggtaagaaga	11	13	11	6	0	2	4	1	2	1	3	2	5	2	4	0	1	4	5	0	1	3	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:123097469G>A	ENST00000466202.1	-	12	2735	c.2159C>T	c.(2158-2160)gCa>gTa	p.A720V	RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Missense_Mutation_p.A720V			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	720										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATGAGCAGCTGCTTCATCTTT	0.403													8	86					0	0	0	0	A	123097469	G	A	123097469	3	1	294	1	0	0	0	0	1	0	0	0	7873	1319	46	4	224	4	IQUB	7	123097469	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	9578864	123097469	36041194	115	52407											
GRM8	2918	broad.mit.edu	37	chr7	126173059	126173059	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgaaagctaaccaaaTgatgcaggtggtatacatgg	14	8	14	5	0	0	2	0	2	0	0	0	3	0	3	1	5	4	3	1	5	5	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:126173059T>C	ENST00000339582.2	-	9	3185	c.2377A>G	c.(2377-2379)Att>Gtt	p.I793V	GRM8_ENST00000358373.3_Missense_Mutation_p.I793V|GRM8_ENST00000444921.2_Missense_Mutation_p.I793V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	793					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCTAACCAAATGATGCAGGTG	0.398										HNSCC(24;0.065)			6	34					0	0	0	0	C	126173059	T	C	126173059	3	2	294	1	0	0	0	0	1	0	0	0	6853	1464	51	5	411	5	GRM8	7	126173059	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	3075590	126173059	32965604	116	52408											
PAX4	5078	broad.mit.edu	37	chr7	127253104	127253104	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatttcccacttgagcttCtcttgccgacgccatttggc	5	14	8	14	2	1	1	0	1	1	0	3	2	2	1	3	1	3	2	3	1	0	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:127253104C>T	ENST00000341640.2	-	6	868	c.663G>A	c.(661-663)gaG>gaA	p.E221E	PAX4_ENST00000338516.3_Silent_p.E229E|PAX4_ENST00000463946.1_Silent_p.E219E|PAX4_ENST00000378740.2_Silent_p.E221E	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	229					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACTTGAGCTTCTCTTGCCGAC	0.527													13	68					0	0	0	0	T	127253104	C	T	127253104	2	4	294	1	0	0	0	0	0	0	0	1	11552	912	32	2		2	PAX4	7	127253104	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	1080045	127253104	31885559	117	52409											
MGAM	8972	broad.mit.edu	37	chr7	141752606	141752607	+	Frame_Shift_Ins	INS	-	-	T																															tccaattcttctggagtcccINStttttgctattttgtcaacg																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:141752606_141752607insT	ENST00000475668.2	+	26	3035_3036	c.2981_2982insT	c.(2980-2982)cttfs	p.L994fs	MGAM_ENST00000549489.2_Frame_Shift_Ins_p.L994fs			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	994	P-type 2.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGGAGTCCCTTTTTGCTATT	0.421													26	123	---	---	---	---					T	141752607	-	T	141752606	7	5	294	1	0	1	1	0	0	0	0	0	9610	681	24	0	3079	0	MGAM	7	141752606	Frame_Shift_Ins	INS	-	TCGA-CV-7248-01A-11D-2012-08	14499502	141752606	17386057	118	52410											
MGAM	8972	broad.mit.edu	37	chr7	141765147	141765147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcagagccgtgcaggaGgtgacgggacagcgaggggt	10	3	19	9	3	0	2	0	1	0	1	0	5	0	4	2	5	4	2	2	5	1	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:141765147G>T	ENST00000475668.2	+	38	4551	c.4497G>T	c.(4495-4497)gaG>gaT	p.E1499D	MGAM_ENST00000549489.2_Missense_Mutation_p.E1499D			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1499	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCGTGCAGGAGGTGACGGGAC	0.612													9	14					0.00010058	0.000115512	1	0	T	141765147	G	T	141765147	3	4	294	1	0	0	0	0	1	0	0	0	9610	991	35	4	4643	4	MGAM	7	141765147	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	12541	141765147	17373516	119	52411											
CNTNAP2	26047	broad.mit.edu	37	chr7	147259327	147259327	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggacctctggggcctctGaaagtttactgcaacatgac	10	9	11	11	1	2	2	0	2	2	0	2	3	2	3	2	3	4	2	2	3	3	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:147259327G>T	ENST00000361727.3	+	12	2391	c.1875G>T	c.(1873-1875)ctG>ctT	p.L625L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	625	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGGGCCTCTGAAAGTTTACT	0.408										HNSCC(39;0.1)			6	56					6.5536e-12	9.26543e-12	1	0	T	147259327	G	T	147259327	2	4	294	1	0	0	0	0	0	0	0	1	3677	1277	45	2		2	CNTNAP2	7	147259327	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	5494180	147259327	11879336	120	52412											
LONRF1	91694	broad.mit.edu	37	chr8	12583338	12583338	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctgcaggcttgagagtaAaccaaatcatgaagctctct	13	9	9	10	0	2	2	1	2	1	1	3	3	2	2	1	1	4	5	1	1	4	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:12583338A>T	ENST00000398246.3	-	11	2130	c.2061T>A	c.(2059-2061)gtT>gtA	p.V687V	LONRF1_ENST00000525024.1_Silent_p.V113V|LONRF1_ENST00000533751.1_Silent_p.V330V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	687	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CTTGAGAGTAAACCAAATCAT	0.413													4	33					0	0	0	0	T	12583338	A	T	12583338	2	4	294	1	0	0	0	0	0	0	0	1	8958	1	1	5		5	LONRF1	8	12583338	Silent	SNP	A	TCGA-CV-7248-01A-11D-2012-08		12583338	133780684	121	52413											
SGCZ	137868	broad.mit.edu	37	chr8	14095184	14095184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactgtaagaccagcggaCtatcctgggaaacatgtata	14	8	10	9	1	0	2	0	0	0	2	1	4	1	4	2	2	2	2	2	2	5	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:14095184C>A	ENST00000382080.1	-	4	1056	c.341G>T	c.(340-342)aGt>aTt	p.S114I	SGCZ_ENST00000421524.2_Missense_Mutation_p.S67I	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	101					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GACCAGCGGACTATCCTGGGA	0.353													56	162					1.51943e-15	2.29876e-15	1	0	A	14095184	C	A	14095184	3	1	294	1	0	0	0	0	1	0	0	0	14291	565	20	4	617	4	SGCZ	8	14095184	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	1511846	14095184	132268838	122	52414											
TACC1	6867	broad.mit.edu	37	chr8	38688648	38688648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactttctgtcttaggcataGagaaggagacgtgccagaag	12	9	13	7	1	2	3	0	0	2	3	2	6	2	3	1	2	1	1	1	2	4	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:38688648G>A	ENST00000379931.3	+	7	2081	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	TACC1_ENST00000317827.4_Missense_Mutation_p.E556K|TACC1_ENST00000443286.2_Missense_Mutation_p.E543K|TACC1_ENST00000518415.1_Missense_Mutation_p.E482K|TACC1_ENST00000348567.4_Missense_Mutation_p.E118K|TACC1_ENST00000520340.1_Missense_Mutation_p.E491K|TACC1_ENST00000520973.1_Missense_Mutation_p.E332K|TACC1_ENST00000520611.1_5'UTR|TACC1_ENST00000276520.8_Missense_Mutation_p.E146K|TACC1_ENST00000519416.1_Missense_Mutation_p.E360K|TACC1_ENST00000520615.1_Missense_Mutation_p.E361K|TACC1_ENST00000330691.6_Missense_Mutation_p.E130K|TACC1_ENST00000522752.1_3'UTR			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	556					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CTTAGGCATAGAGAAGGAGAC	0.483													9	29					0	0	0	0	A	38688648	G	A	38688648	3	1	294	1	0	0	0	0	1	0	0	0	15592	943	33	2	1688	2	TACC1	8	38688648	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	24593464	38688648	107675374	123	52415											
ANK1	286	broad.mit.edu	37	chr8	41552254	41552254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgacatgatcacgaagtaCagcgggaagtcggtggtgat	11	8	15	7	4	1	3	1	3	0	0	2	5	1	4	0	3	2	1	0	3	3	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:41552254C>T	ENST00000396942.1	-	28	3266	c.3183G>A	c.(3181-3183)ctG>ctA	p.L1061L	ANK1_ENST00000379758.2_Silent_p.L1061L|ANK1_ENST00000289734.7_Silent_p.L1061L|ANK1_ENST00000265709.8_Silent_p.L1102L|ANK1_ENST00000347528.4_Silent_p.L1061L|ANK1_ENST00000352337.4_Silent_p.L1061L|ANK1_ENST00000396945.1_Silent_p.L1061L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1061					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCACGAAGTACAGCGGGAAGT	0.607													8	31					0	0	0	0	T	41552254	C	T	41552254	2	4	294	1	0	0	0	0	0	0	0	1	620	465	17	4		4	ANK1	8	41552254	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	2863606	41552254	104811768	124	52416											
NCOA2	10499	broad.mit.edu	37	chr8	71037031	71037031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctgtgtatgtgccattCggggtgacataagtgggctc	7	12	14	8	1	1	1	0	1	1	0	3	2	1	1	1	3	1	2	1	3	2	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:71037031C>A	ENST00000452400.2	-	20	4167	c.3986G>T	c.(3985-3987)cGa>cTa	p.R1329L	NCOA2_ENST00000267974.4_Missense_Mutation_p.R417L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1329					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATGTGCCATTCGGGGTGACAT	0.512			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								48	75					1.51926e-22	2.41432e-22	1	0	A	71037031	C	A	71037031	3	1	294	1	0	0	0	0	1	0	0	0	10299	884	31	3	424	3	NCOA2	8	71037031	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	29484777	71037031	75326991	125	52417											
LY96	23643	broad.mit.edu	37	chr8	74922334	74922334	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttgccgaggatctgatgacGattactctttttgcagagct	8	15	10	8	2	2	3	0	2	2	1	2	6	2	4	1	1	4	2	1	1	1	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:74922334G>C	ENST00000284818.2	+	3	392	c.301G>C	c.(301-303)Gat>Cat	p.D101H	LY96_ENST00000518893.1_Missense_Mutation_p.D71H	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	101					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ATCTGATGACGATTACTCTTT	0.313													8	46					0	0	0	0	C	74922334	G	C	74922334	3	2	294	1	0	0	0	0	1	0	0	0	9167	1058	37	3	311	3	LY96	8	74922334	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	3885303	74922334	71441688	126	52418											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457455	110457455	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttttcattggaaatcAacagttcagagcaatagagg	13	12	10	6	0	3	2	3	0	0	2	3	3	3	3	0	2	3	4	0	2	4	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:110457455A>T	ENST00000378402.5	+	38	5461	c.5357A>T	c.(5356-5358)cAa>cTa	p.Q1786L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1786	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTGGAAATCAACAGTTCAGA	0.413										HNSCC(38;0.096)			26	58					0	0	0	0	T	110457455	A	T	110457455	3	4	294	1	0	0	0	0	1	0	0	0	12044	130	5	5	5507	5	PKHD1L1	8	110457455	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	35535121	110457455	35906567	127	52419											
CSMD3	114788	broad.mit.edu	37	chr8	113317099	113317099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccattcacaattcgccatCttccatgttccaagataaag	13	11	5	12	1	2	1	1	0	1	1	5	1	4	1	4	0	1	1	4	0	4	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:113317099C>A	ENST00000297405.5	-	52	8361	c.8117G>T	c.(8116-8118)aGa>aTa	p.R2706I	CSMD3_ENST00000352409.3_Missense_Mutation_p.R2636I|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2666I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2706	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTCGCCATCTTCCATGTTC	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	28					0.00909568	0.009788	1	0	A	113317099	C	A	113317099	3	1	294	1	0	0	0	0	1	0	0	0	3978	913	32	2	3086	2	CSMD3	8	113317099	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	2859644	113317099	33046923	128	52420											
CSMD3	114788	broad.mit.edu	37	chr8	113364743	113364743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctaggagtttgtggttcagGacaggaatccaaaccaattg	12	10	12	7	0	1	0	1	0	0	0	2	3	2	3	2	4	1	3	2	4	4	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:113364743G>T	ENST00000297405.5	-	39	6401	c.6157C>A	c.(6157-6159)Cct>Act	p.P2053T	CSMD3_ENST00000352409.3_Missense_Mutation_p.P1983T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1949T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2013T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2053	Sushi 11.					integral to membrane|plasma membrane		p.P2053S(1)|p.P2013S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGGTTCAGGACAGGAATCC	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	68					1.3612e-06	1.65606e-06	1	0	T	113364743	G	T	113364743	3	4	294	1	0	0	0	0	1	0	0	0	3978	1174	41	2	5098	2	CSMD3	8	113364743	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	47644	113364743	32999279	129	52421											
ATAD2	29028	broad.mit.edu	37	chr8	124349867	124349867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagattaaactaatacctCatcagggtcaacaggcttag	16	9	7	9	0	3	1	3	0	0	1	3	1	3	1	1	2	3	1	1	2	7	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:124349867C>T	ENST00000287394.5	-	21	3156	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	ATAD2_ENST00000521903.1_Missense_Mutation_p.E335K	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1017	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACTAATACCTCATCAGGGTCA	0.363													8	40					0	0	0	0	T	124349867	C	T	124349867	3	4	294	1	0	0	0	0	1	0	0	0	1075	835	29	2	1155	2	ATAD2	8	124349867	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	10985124	124349867	22014155	130	52422											
COL22A1	169044	broad.mit.edu	37	chr8	139601515	139601515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttagggacccttcacattaCccggccgggcagcaaggctg	8	8	12	13	2	1	0	1	0	0	0	1	1	1	1	3	4	2	3	3	4	3	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:139601515C>A	ENST00000303045.6	-	65	5308	c.4862G>T	c.(4861-4863)gGt>gTt	p.G1621V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1601V|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1621					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTCACATTACCCGGCCGGGC	0.587										HNSCC(7;0.00092)			6	51					0.00116845	0.00129127	1	0	A	139601515	C	A	139601515	3	1	294	1	0	0	0	0	1	0	0	0	3711	507	18	4	22	4	COL22A1	8	139601515	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	15251648	139601515	6762507	131	52423											
FAM83H	286077	broad.mit.edu	37	chr8	144812599	144812599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggcacaggaagtctggtgCcccctcggtagcgaggaagc	9	5	16	11	2	1	0	0	0	1	0	2	3	1	2	2	5	3	2	2	5	3	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:144812599C>T	ENST00000388913.3	-	2	279	c.154G>A	c.(154-156)Gca>Aca	p.A52T		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	52					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAGTCTGGTGCCCCCTCGGTA	0.627													26	64					0	0	0	0	T	144812599	C	T	144812599	3	4	294	1	0	0	0	0	1	0	0	0	5686	739	26	4	3401	4	FAM83H	8	144812599	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	5211084	144812599	1551423	132	52424											
PRUNE2	158471	broad.mit.edu	37	chr9	79325656	79325656	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggggagtagtctgcagAatgagaagattgctgggact	10	10	16	5	0	1	3	0	1	1	3	1	6	1	5	0	3	3	4	0	3	3	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:79325656A>G	ENST00000428286.1	-	8	1657	c.457T>C	c.(457-459)Tct>Cct	p.S153P	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S512P			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	512					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TAGTCTGCAGAATGAGAAGAT	0.547													20	26					0	0	0	0	G	79325656	A	G	79325656	3	3	294	1	0	0	0	0	1	0	0	0	12720	246	9	5	7780	5	PRUNE2	9	79325656	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08		79325656	61887775	133	52425											
C9orf89	84270	broad.mit.edu	37	chr9	95872917	95872917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagccacctgcagcggagcgGtgagcgggactgccaggagt	8	4	18	11	3	0	1	0	1	0	0	0	5	0	4	3	4	6	1	3	4	0	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:95872917G>T	ENST00000375464.2	+	3	346	c.218G>T	c.(217-219)gGt>gTt	p.G73V	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	73	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CAGCGGAGCGGTGAGCGGGAC	0.642													46	72					1.4659e-37	2.3945e-37	1	0	T	95872917	G	T	95872917	3	4	294	1	0	0	0	0	1	0	0	0	2528	1261	44	4	228	4	C9orf89	9	95872917	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	16547261	95872917	45340514	134	52426											
GRIN3A	116443	broad.mit.edu	37	chr9	104448969	104448969	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagttctggttggatcaTggtggctgtggctacagctc	7	12	14	8	0	2	0	1	0	1	0	3	1	2	1	0	5	3	6	0	5	2	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:104448969T>C	ENST00000361820.3	-	2	1813	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	405					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGTTGGATCATGGTGGCTGTG	0.468													25	27					0	0	0	0	C	104448969	T	C	104448969	3	2	294	1	0	0	0	0	1	0	0	0	6833	1464	51	5	2166	5	GRIN3A	9	104448969	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	8576052	104448969	36764462	135	52427											
ORM2	5005	broad.mit.edu	37	chr9	117092249	117092250	+	Frame_Shift_Del	DEL	TG	TG	-																															gctggaagcccagatcccatTgtgtgccaacctagtaccgg																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:117092249_117092250delTG	ENST00000412657.1	+	1	98_99	c.65_66delTG	c.(64-66)tfs	p.L22fs	ORM2_ENST00000431067.2_Frame_Shift_Del_p.L22fs					orosomucoid 2											breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)				CAGATCCCATTGTGTGCCAACC	0.624													6	13	---	---	---	---					-	117092250	TG	-	117092249	7	5	294	1	0	1	0	1	0	0	0	0	11339	1821	63	0	67	0	ORM2	9	117092249	Frame_Shift_Del	DEL	TG	TCGA-CV-7248-01A-11D-2012-08	12643280	117092249	24121182	136	52428											
DEC1	50514	broad.mit.edu	37	chr9	118162697	118162697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgagggccttcttgccGtgttacacatgatggtaggt	6	13	14	8	1	1	2	0	2	1	0	1	2	1	2	2	4	2	2	2	4	2	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:118162697G>T	ENST00000374016.1	+	6	592	c.73G>T	c.(73-75)Gtg>Ttg	p.V25L		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	25					negative regulation of cell proliferation					kidney(1)|large_intestine(1)|ovary(1)	3						ccttcttgccgtgttacacat	0.463													16	75					1.15088e-07	1.47456e-07	1	0	T	118162697	G	T	118162697	3	4	294	1	0	0	0	0	1	0	0	0	4413	1145	40	3	79	3	DEC1	9	118162697	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1070448	118162697	23050734	137	52429											
DNM1	1759	broad.mit.edu	37	chr9	131001792	131001792	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacttcataggctttgcCaagtgagtgctcccccaggc	8	9	12	12	0	1	1	1	1	0	0	2	3	2	2	3	3	2	2	3	3	2	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:131001792C>T	ENST00000341179.7	+	12	1583	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	DNM1_ENST00000475805.1_Silent_p.A497A|DNM1_ENST00000393594.3_Silent_p.A497A|DNM1_ENST00000486160.1_Silent_p.A497A|DNM1_ENST00000372923.3_Silent_p.A497A	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	497					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TAGGCTTTGCCAAGTGAGTGC	0.512													144	202					0	0	0	0	T	131001792	C	T	131001792	2	4	294	1	0	0	0	0	0	0	0	1	4706	581	21	4		4	DNM1	9	131001792	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	12839095	131001792	10211639	138	52430											
RAPGEF1	2889	broad.mit.edu	37	chr9	134503939	134503939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaggggctgcattacctgCctattgattccaacaggcaa	12	9	9	11	0	0	1	0	1	0	0	1	1	1	1	3	3	5	3	3	3	5	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:134503939C>T	ENST00000372195.1	-	8	1257	c.1014G>A	c.(1012-1014)agG>agA	p.R338R	RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372189.3_Silent_p.R321R|RAPGEF1_ENST00000372190.3_Silent_p.R339R			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	321					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCATTACCTGCCTATTGATTC	0.612													13	31					0	0	0	0	T	134503939	C	T	134503939	2	4	294	1	0	0	0	0	0	0	0	1	13125	738	26	4		4	RAPGEF1	9	134503939	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	3502147	134503939	6709492	139	52431											
LHX3	8022	broad.mit.edu	37	chr9	139090618	139090618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagcgctgccggccggCgtccttcttcagcctcttct	2	10	9	20	4	4	0	1	0	3	0	5	0	5	0	6	2	3	1	6	2	0	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:139090618C>A	ENST00000371746.3	-	5	788	c.670G>T	c.(670-672)Gcc>Tcc	p.A224S	LHX3_ENST00000371748.5_Missense_Mutation_p.A219S	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	219					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TGCCGGCCGGCGTCCTTCTTC	0.706													17	79					9.16793e-09	1.22838e-08	1	0	A	139090618	C	A	139090618	3	1	294	1	0	0	0	0	1	0	0	0	8826	768	27	3	546	3	LHX3	9	139090618	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	4586679	139090618	2122813	140	52432											
EHMT1	79813	broad.mit.edu	37	chr9	140611505	140611505	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcgcttttccccagacGccagccgccccaccagccac	8	4	7	22	3	0	1	0	0	0	1	1	1	1	1	9	0	3	1	9	0	1	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:140611505G>A	ENST00000460843.1	+	3	540	c.513G>A	c.(511-513)acG>acA	p.T171T	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.T140T|EHMT1_ENST00000462484.1_Silent_p.T171T	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	171					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TTCCCCAGACGCCAGCCGCCC	0.662													36	47					0	0	0	0	A	140611505	G	A	140611505	2	1	294	1	0	0	0	0	0	0	0	1	5019	1074	38	1		1	EHMT1	9	140611505	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1520887	140611505	601926	141	52433											
MRC1	4360	broad.mit.edu	37	chr10	17865310	17865310	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtgaatttcagaaatGggagtgcaaaaatgacacac	20	7	9	5	0	1	3	1	2	0	1	1	4	1	4	0	1	1	1	0	1	6	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:17865310G>A	ENST00000331429.2	+	2	402	c.299G>A	c.(298-300)tGg>tAg	p.W100*	MRC1L1_ENST00000457317.1_Nonsense_Mutation_p.W100*																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTCAGAAATGGGAGTGCAAA	0.388													19	93					0	0	0	0	A	17865310	G	A	17865310	4	1	294	1	0	0	0	0	0	1	0	0	9826	1357	47	4	305	4	MRC1	10	17865310	Nonsense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08		17865310	117669437	142	52434											
NRG3	10718	broad.mit.edu	37	chr10	84745309	84745309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaaatcagaacgagaggCgcaatttgtcttaagaaatg	16	8	10	7	2	2	3	1	0	1	3	2	4	2	3	1	1	2	1	1	1	5	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:84745309C>T	ENST00000372142.2	+	11	1722	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	NRG3_ENST00000404547.1_Missense_Mutation_p.A704V|NRG3_ENST00000545131.1_Missense_Mutation_p.A330V|NRG3_ENST00000404576.2_Missense_Mutation_p.A484V|NRG3_ENST00000372141.2_Missense_Mutation_p.A680V|NRG3_ENST00000556918.1_Missense_Mutation_p.A510V|NRG3_ENST00000537893.1_Missense_Mutation_p.A330V	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	704					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAACGAGAGGCGCAATTTGTC	0.463													5	36					0	0	0	0	T	84745309	C	T	84745309	3	4	294	1	0	0	0	0	1	0	0	0	10720	768	27	1	2317	1	NRG3	10	84745309	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	66879999	84745309	50789438	143	52435											
GRID1	2894	broad.mit.edu	37	chr10	87487719	87487719	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatttaaagcccagagcctTggccagtgcatccaggacat	12	9	9	11	0	0	1	0	0	0	1	1	2	1	2	4	2	3	1	4	2	3	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:87487719T>G	ENST00000327946.7	-	10	1511	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q	GRID1_ENST00000536331.1_Missense_Mutation_p.K47Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	476						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCCAGAGCCTTGGCCAGTGCA	0.532										Multiple Myeloma(13;0.14)			21	148					0	0	0	0	G	87487719	T	G	87487719	3	3	294	1	0	0	0	0	1	0	0	0	6821	1821	63	5	1631	5	GRID1	10	87487719	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	2742410	87487719	48047028	144	52436											
CYP26A1	1592	broad.mit.edu	37	chr10	94834702	94834702	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgccatgcgcatcctacTgggctgcgaaccccaactgg	9	7	10	15	3	0	0	0	0	0	0	2	1	1	0	4	2	5	2	4	2	4	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:94834702T>A	ENST00000371531.1	+	3	752	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	CYP26A1_ENST00000224356.4_Missense_Mutation_p.L194Q|CYP26A1_ENST00000394139.1_Missense_Mutation_p.L125Q	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	194					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				CGCATCCTACTGGGCTGCGAA	0.657													11	87					0	0	0	0	A	94834702	T	A	94834702	3	1	294	1	0	0	0	0	1	0	0	0	4187	1580	55	5	591	5	CYP26A1	10	94834702	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	7346983	94834702	40700045	145	52437											
RBP4	5950	broad.mit.edu	37	chr10	95360773	95360773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaacagcaagagcgcccAcacccacttcatcttgccca	11	5	6	19	2	2	1	1	0	1	1	2	1	2	1	4	0	4	1	4	0	2	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:95360773A>G	ENST00000371467.1	-	2	332	c.13T>C	c.(13-15)Tgg>Cgg	p.W5R	FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371469.2_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.W5R			P02753	RET4_HUMAN	retinol binding protein 4, plasma	5					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AAGAGCGCCCACACCCACTTC	0.701													9	71					0	0	0	0	G	95360773	A	G	95360773	3	3	294	1	0	0	0	0	1	0	0	0	13240	159	6	5	612	5	RBP4	10	95360773	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	526071	95360773	40173974	146	52438											
C10orf12	26148	broad.mit.edu	37	chr10	98743264	98743264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcagctctcttgggttgtCgagtagtggaagtggtgatg	7	13	16	5	1	1	1	0	1	1	0	3	3	1	2	0	3	2	4	0	3	2	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:98743264C>T	ENST00000286067.2	+	1	2224	c.2117C>T	c.(2116-2118)tCg>tTg	p.S706L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	706										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTTGGGTTGTCGAGTAGTGGA	0.507													12	48					0	0	0	0	T	98743264	C	T	98743264	3	4	294	1	0	0	0	0	1	0	0	0	1599	893	31	1	2119	1	C10orf12	10	98743264	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	3382491	98743264	36791483	147	52439											
SORCS1	114815	broad.mit.edu	37	chr10	108389130	108389130	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtccacttggatgagtGtccgctgaacatcaccctga	11	9	9	12	1	1	3	1	3	0	0	3	4	3	4	3	1	1	1	3	1	2	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:108389130G>C	ENST00000263054.6	-	19	2499	c.2492C>G	c.(2491-2493)aCa>aGa	p.T831R	SORCS1_ENST00000344440.6_Missense_Mutation_p.T831R|SORCS1_ENST00000369698.1_Missense_Mutation_p.T366R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	831	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTGGATGAGTGTCCGCTGAAC	0.507													5	25					0	0	0	0	C	108389130	G	C	108389130	3	2	294	1	0	0	0	0	1	0	0	0	15018	1377	48	4	1280	4	SORCS1	10	108389130	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	9645866	108389130	27145617	148	52440											
TECTB	6975	broad.mit.edu	37	chr10	114045943	114045943	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacctaccactccacctacTtggtgaaccaggctgccttt	8	10	7	16	0	0	1	0	1	0	0	1	1	1	1	6	2	4	2	6	2	3	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:114045943T>A	ENST00000369422.3	+	3	382	c.382T>A	c.(382-384)Ttg>Atg	p.L128M		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	128	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CTCCACCTACTTGGTGAACCA	0.502													19	73					0	0	0	0	A	114045943	T	A	114045943	3	1	294	1	0	0	0	0	1	0	0	0	15842	1606	56	5	392	5	TECTB	10	114045943	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	5656813	114045943	21488804	149	52441											
MKI67	4288	broad.mit.edu	37	chr10	129903439	129903439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtctggttgtggagatCtgcaggctattttggtagtt	5	16	15	5	0	2	1	0	0	2	1	2	2	2	1	0	5	1	5	0	5	2	6	rs148951938		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:129903439C>A	ENST00000368654.3	-	13	7040	c.6665G>T	c.(6664-6666)aGa>aTa	p.R2222I	MKI67_ENST00000368653.3_Missense_Mutation_p.R1862I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2222	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGTGGAGATCTGCAGGCTAT	0.493													46	251					1.06522e-23	1.69938e-23	1	0	A	129903439	C	A	129903439	3	1	294	1	0	0	0	0	1	0	0	0	9667	913	32	2	3117	2	MKI67	10	129903439	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	15857496	129903439	5631308	150	52442											
MKI67	4288	broad.mit.edu	37	chr10	129906870	129906870	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccagttacacgggctgcTgggtccaggatctgctttgg	6	12	13	10	1	1	0	0	0	1	0	3	1	3	1	2	4	3	4	2	4	1	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:129906870T>A	ENST00000368654.3	-	13	3609	c.3234A>T	c.(3232-3234)ccA>ccT	p.P1078P	MKI67_ENST00000368653.3_Silent_p.P718P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1078	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CACGGGCTGCTGGGTCCAGGA	0.557													27	199					0	0	0	0	A	129906870	T	A	129906870	2	1	294	1	0	0	0	0	0	0	0	1	9667	1567	55	5		5	MKI67	10	129906870	Silent	SNP	T	TCGA-CV-7248-01A-11D-2012-08	3431	129906870	5627877	151	52443											
FRG2B	441581	broad.mit.edu	37	chr10	135438829	135438829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagtgtcagctgctcaCaggtaagtggagaatggatc	11	9	14	7	0	2	2	2	1	0	1	3	4	2	3	0	3	3	4	0	3	2	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:135438829C>A	ENST00000443774.1	-	4	663	c.614G>T	c.(613-615)tGt>tTt	p.C205F	FRG2B_ENST00000425520.1_Missense_Mutation_p.C204F			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	204						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAGCTGCTCACAGGTAAGTGG	0.557													11	74					0.000219431	0.000249908	1	0	A	135438829	C	A	135438829	3	1	294	1	0	0	0	0	1	0	0	0	6095	478	17	4	228	4	FRG2B	10	135438829	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	5531959	135438829	95918	152	52444											
OR56A3	390083	broad.mit.edu	37	chr11	5968817	5968817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcgtgctctgcctcactGtcatccccaaggtcctgacc	7	10	7	17	1	3	1	2	1	1	0	6	1	5	1	5	1	2	1	5	1	1	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:5968817G>T	ENST00000329564.6	+	1	248	c.241G>T	c.(241-243)Gtc>Ttc	p.V81F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCCTCACTGTCATCCCCAA	0.567													37	135					1.60099e-16	2.44927e-16	1	0	T	5968817	G	T	5968817	3	4	294	1	0	0	0	0	1	0	0	0	11205	1377	48	4	243	4	OR56A3	11	5968817	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08		5968817	129037699	153	52445											
PLEKHA7	144100	broad.mit.edu	37	chr11	16847840	16847840	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcattccattcttctctgcCcgttggggctgtgcctgctg	3	14	11	13	1	2	0	0	0	2	0	4	0	3	0	3	2	4	4	3	2	0	4	rs141499859		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:16847840C>T	ENST00000355661.3	-	10	1180	c.1170G>A	c.(1168-1170)cgG>cgA	p.R390R	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.R390R|PLEKHA7_ENST00000448080.2_Silent_p.R390R			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	390					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCTTCTCTGCCCGTTGGGGCT	0.597													33	75					0	0	0	0	T	16847840	C	T	16847840	2	4	294	1	0	0	0	0	0	0	0	1	12133	610	22	4		4	PLEKHA7	11	16847840	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	10879023	16847840	118158676	154	52446											
LDHC	3948	broad.mit.edu	37	chr11	18451424	18451424	+	Missense_Mutation	SNP	C	C	A																															ctgccatagtccattatagtCctgattgtaaaattcttgtt																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:18451424C>A	ENST00000541669.1	+	4	496	c.385C>A	c.(385-387)Cct>Act	p.P129T	LDHC_ENST00000537486.1_Missense_Mutation_p.P129T|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000544105.1_Missense_Mutation_p.P129T|LDHC_ENST00000280704.4_Missense_Mutation_p.P129T|LDHC_ENST00000536880.1_Missense_Mutation_p.P115T|LDHC_ENST00000535809.1_Missense_Mutation_p.P129T			P07864	LDHC_HUMAN	lactate dehydrogenase C	129					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	CCATTATAGTCCTGATTGTAA	0.413													12	67					4.36969e-10	6.03223e-10	1	0	A	18451424	C	A	18451424	3	1	294	1	0	0	0	0	1	0	0	0	8755	855	30	2	395	2	LDHC	11	18451424	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	1603584	18451424	116555092	155	52447	414	2									
LDHC	3948	broad.mit.edu	37	chr11	18451425	18451425	+	Missense_Mutation	SNP	C	C	A																															tgccatagtccattatagtcCtgattgtaaaattcttgttg																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:18451425C>A	ENST00000541669.1	+	4	497	c.386C>A	c.(385-387)cCt>cAt	p.P129H	LDHC_ENST00000537486.1_Missense_Mutation_p.P129H|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000544105.1_Missense_Mutation_p.P129H|LDHC_ENST00000280704.4_Missense_Mutation_p.P129H|LDHC_ENST00000536880.1_Missense_Mutation_p.P115H|LDHC_ENST00000535809.1_Missense_Mutation_p.P129H			P07864	LDHC_HUMAN	lactate dehydrogenase C	129					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	CATTATAGTCCTGATTGTAAA	0.413													11	67					7.03913e-09	9.46243e-09	1	0	A	18451425	C	A	18451425	3	1	294	1	0	0	0	0	1	0	0	0	8755	681	24	4	396	4	LDHC	11	18451425	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	1	18451425	116555091	156	52448	414	2									
OR4C6	219432	broad.mit.edu	37	chr11	55432837	55432837	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttttcttaccttcttgtcCcttttggatgtcatgttctc	3	23	5	10	0	4	0	1	0	3	0	6	1	5	1	2	1	1	1	2	1	1	9			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:55432837C>A	ENST00000314259.3	+	1	224	c.195C>A	c.(193-195)tcC>tcA	p.S65S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCTTCTTGTCCCTTTTGGATG	0.448													21	93					2.4624e-09	3.37653e-09	1	0	A	55432837	C	A	55432837	2	1	294	1	0	0	0	0	0	0	0	1	11123	610	22	4		4	OR4C6	11	55432837	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	36981412	55432837	79573679	157	52449											
OR5L2	26338	broad.mit.edu	37	chr11	55595555	55595555	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgattcccatgctgaacccCctgatctacagcctgagaaa	11	9	8	13	0	1	4	0	4	1	1	2	5	2	4	4	0	4	1	4	0	3	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:55595555C>A	ENST00000378397.1	+	1	861	c.861C>A	c.(859-861)ccC>ccA	p.P287P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGCTGAACCCCCTGATCTACA	0.443										HNSCC(27;0.073)			10	46					1.76689e-08	2.32935e-08	1	0	A	55595555	C	A	55595555	2	1	294	1	0	0	0	0	0	0	0	1	11242	610	22	4		4	OR5L2	11	55595555	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	162718	55595555	79410961	158	52450											
OR8I2	120586	broad.mit.edu	37	chr11	55860982	55860982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttttcctgagcaatttaGcatttattgacatattttac	11	19	4	7	0	0	2	0	2	0	0	1	2	1	2	1	0	3	2	1	0	5	10			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:55860982G>T	ENST00000302124.2	+	1	230	c.199G>T	c.(199-201)Gca>Tca	p.A67S	OR8I2_ENST00000560768.1_Missense_Mutation_p.A67S			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GAGCAATTTAGCATTTATTGA	0.393													27	136					2.65835e-16	4.05175e-16	1	0	T	55860982	G	T	55860982	3	4	294	1	0	0	0	0	1	0	0	0	11311	971	34	4	201	4	OR8I2	11	55860982	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	265427	55860982	79145534	159	52451											
SLC43A3	29015	broad.mit.edu	37	chr11	57175325	57175325	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccgatataccagaaagggGtggaagaatgtcagaagaat	16	7	12	6	1	1	4	1	0	0	4	2	6	2	5	2	3	1	0	2	3	7	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:57175325G>A	ENST00000395123.2	-	14	1720	c.1416C>T	c.(1414-1416)caC>caT	p.H472H	SLC43A3_ENST00000529554.1_Silent_p.H472H|SLC43A3_ENST00000352187.1_Silent_p.H472H|RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000533524.1_Silent_p.H485H|SLC43A3_ENST00000395124.1_Silent_p.H472H	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	472					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCAGAAAGGGGTGGAAGAATG	0.463													18	44					0	0	0	0	A	57175325	G	A	57175325	2	1	294	1	0	0	0	0	0	0	0	1	14722	1252	44	4		4	SLC43A3	11	57175325	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1314343	57175325	77831191	160	52452											
MS4A12	54860	broad.mit.edu	37	chr11	60269478	60269478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattatctctggctctctctCtgtgtcagcatccaaggagc	7	14	8	12	0	4	0	1	0	3	0	8	1	5	1	1	2	2	2	1	2	3	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:60269478C>T	ENST00000016913.4	+	4	494	c.437C>T	c.(436-438)tCt>tTt	p.S146F	MS4A12_ENST00000537076.1_Missense_Mutation_p.S100F	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	146						integral to membrane	receptor activity	p.S146C(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GGCTCTCTCTCTGTGTCAGCA	0.388													19	103					0	0	0	0	T	60269478	C	T	60269478	3	4	294	1	0	0	0	0	1	0	0	0	9926	913	32	2	447	2	MS4A12	11	60269478	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	3094153	60269478	74737038	161	52453											
AHNAK	79026	broad.mit.edu	37	chr11	62297865	62297865	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacctcaggcaaggacacatCcacatctcccttcaattttg	11	11	5	14	0	3	0	2	0	1	0	5	1	4	1	3	2	1	1	3	2	3	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:62297865C>A	ENST00000378024.4	-	5	4298	c.4024G>T	c.(4024-4026)Gat>Tat	p.D1342Y	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1342					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGGACACATCCACATCTCCC	0.478													55	233					5.39261e-20	8.43882e-20	1	0	A	62297865	C	A	62297865	3	1	294	1	0	0	0	0	1	0	0	0	414	855	30	2	13768	2	AHNAK	11	62297865	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	2028387	62297865	72708651	162	52454											
CFL1	1072	broad.mit.edu	37	chr11	65623195	65623195	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttaaggggcgcagactcGggggccctggacagaaacac	10	5	14	12	2	1	2	0	0	1	2	2	3	1	3	1	5	1	1	1	5	2	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:65623195G>T	ENST00000525451.2	-	4	1033	c.318C>A	c.(316-318)ccC>ccA	p.P106P	CFL1_ENST00000531407.1_Silent_p.P89P|CFL1_ENST00000531413.1_Silent_p.P89P|CFL1_ENST00000524553.1_Silent_p.P89P|CFL1_ENST00000308162.5_Silent_p.P106P|CFL1_ENST00000527344.1_Silent_p.P89P|CFL1_ENST00000534769.1_Silent_p.P144P			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	106	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		GCGCAGACTCGGGGGCCCTGG	0.547													6	33					0.00198382	0.0021806	1	0	T	65623195	G	T	65623195	2	4	294	1	0	0	0	0	0	0	0	1	3319	1103	39	3		3	CFL1	11	65623195	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	3325330	65623195	69383321	163	52455											
EFEMP2	30008	broad.mit.edu	37	chr11	65634509	65634509	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcccgggggcccgtcacCggccgggcgaggaccagcat	6	4	15	16	5	1	0	1	0	0	0	2	2	2	1	5	5	2	1	5	5	1	1	rs148302546	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:65634509C>A	ENST00000307998.6	-	11	1442	c.1212G>T	c.(1210-1212)ccG>ccT	p.P404P	EFEMP2_ENST00000528176.1_Intron|EFEMP2_ENST00000532648.1_5'UTR|MUS81_ENST00000525006.1_Intron	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	404					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGCCCGTCACCGGCCGGGCGA	0.612													17	62					1.15919e-05	1.37758e-05	1	0	A	65634509	C	A	65634509	2	1	294	1	0	0	0	0	0	0	0	1	4978	639	23	3		3	EFEMP2	11	65634509	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	11314	65634509	69372007	164	52456											
RBM4	5936	broad.mit.edu	37	chr11	66411238	66411238	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctgcctccgtgtataatTacgcagagcagaccctgtcc	9	9	9	14	2	0	2	0	0	0	2	2	2	2	2	4	0	4	4	4	0	3	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:66411238T>C	ENST00000409406.1	+	2	1507	c.730T>C	c.(730-732)Tac>Cac	p.Y244H	RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.Y219H|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_Missense_Mutation_p.Y219H|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.Y244H|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000408993.2_Missense_Mutation_p.Y244H|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.Y244H|RBM4_ENST00000396053.4_Intron					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CGTGTATAATTACGCAGAGCA	0.577													19	74					0	0	0	0	C	66411238	T	C	66411238	3	2	294	1	0	0	0	0	1	0	0	0	13216	1754	61	5	736	5	RBM4	11	66411238	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	776729	66411238	68595278	165	52457											
C11orf82	220042	broad.mit.edu	37	chr11	82644765	82644765	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagagctttcaaaaaaccTgtattttattcagatcttga	15	14	5	7	0	3	3	2	1	1	2	3	3	3	3	1	0	3	2	1	0	6	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:82644765T>A	ENST00000533655.1	+	6	2597	c.2385T>A	c.(2383-2385)ccT>ccA	p.P795P	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Silent_p.P795P|C11orf82_ENST00000329143.3_Silent_p.P494P	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	795			P -> R (in dbSNP:rs11826199).		apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TCAAAAAACCTGTATTTTATT	0.343													9	33					0	0	0	0	A	82644765	T	A	82644765	2	1	294	1	0	0	0	0	0	0	0	1	1676	1567	55	5		5	C11orf82	11	82644765	Silent	SNP	T	TCGA-CV-7248-01A-11D-2012-08	16233527	82644765	52361751	166	52458											
USP28	57646	broad.mit.edu	37	chr11	113683178	113683178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataggcccaatagtgtccagCatttgcttgtccttcatgaa	10	13	8	10	0	1	1	1	1	0	0	3	1	3	1	3	1	2	2	3	1	4	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:113683178C>A	ENST00000003302.4	-	16	1860	c.1792G>T	c.(1792-1794)Gct>Tct	p.A598S	USP28_ENST00000545540.1_Missense_Mutation_p.A473S|USP28_ENST00000544967.1_Missense_Mutation_p.A306S|USP28_ENST00000260188.5_Missense_Mutation_p.A598S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	598					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TAGTGTCCAGCATTTGCTTGT	0.433													25	86					4.06085e-26	6.52921e-26	1	0	A	113683178	C	A	113683178	3	1	294	1	0	0	0	0	1	0	0	0	17154	710	25	4	1481	4	USP28	11	113683178	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	31038413	113683178	21323338	167	52459											
ADAMTS15	170689	broad.mit.edu	37	chr11	130319057	130319057	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacagcatttcaggaggaCttttacctacacctgacgcc	11	10	7	13	1	2	1	2	1	0	0	2	3	2	3	3	2	3	1	3	2	2	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:130319057C>T	ENST00000299164.2	+	1	189	c.189C>T	c.(187-189)gaC>gaT	p.D63D		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	63					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TTCAGGAGGACTTTTACCTAC	0.612													11	90					0	0	0	0	T	130319057	C	T	130319057	2	4	294	1	0	0	0	0	0	0	0	1	260	564	20	4		4	ADAMTS15	11	130319057	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	16635879	130319057	4687459	168	52460											
SPATA19	219938	broad.mit.edu	37	chr11	133715038	133715038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcttactcacttttttcaaCcaatgatgtagtacagacac	13	14	4	10	0	3	2	2	1	1	1	3	2	3	2	1	0	3	2	1	0	5	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:133715038C>A	ENST00000299140.3	-	2	180	c.126G>T	c.(124-126)tgG>tgT	p.W42C	SPATA19_ENST00000532889.1_Missense_Mutation_p.W42C	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	42					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CTTTTTTCAACCAATGATGTA	0.423													6	36					3.59834e-05	4.22727e-05	1	0	A	133715038	C	A	133715038	3	1	294	1	0	0	0	0	1	0	0	0	15094	508	18	4	397	4	SPATA19	11	133715038	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	3395981	133715038	1291478	169	52461											
SLC6A13	6540	broad.mit.edu	37	chr12	333259	333259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacacgtgagggtacatgtCcaccagcgctgtcaccaggc	10	6	12	13	2	1	1	1	1	0	0	2	2	2	1	3	2	3	2	3	2	2	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:333259C>T	ENST00000343164.4	-	11	1262	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	SLC6A13_ENST00000445055.2_Missense_Mutation_p.D312N|SLC6A13_ENST00000539668.1_5'UTR	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	404					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGGTACATGTCCACCAGCGCT	0.557													6	40					0	0	0	0	T	333259	C	T	333259	3	4	294	1	0	0	0	0	1	0	0	0	14764	855	30	2	618	2	SLC6A13	12	333259	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08		333259	133518636	170	52462											
LPAR5	57121	broad.mit.edu	37	chr12	6729716	6729716	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttagccagcaggaggcgCacggtcttccgccgccgctg	6	6	15	14	5	1	0	0	0	1	0	2	1	2	1	4	4	2	4	4	4	1	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:6729716C>T	ENST00000329858.4	-	2	1455	c.699G>A	c.(697-699)gtG>gtA	p.V233V	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Silent_p.V233V	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	233						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GCAGGAGGCGCACGGTCTTCC	0.697													4	5					0	0	0	0	T	6729716	C	T	6729716	2	4	294	1	0	0	0	0	0	0	0	1	8972	697	25	4		4	LPAR5	12	6729716	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	6396457	6729716	127122179	171	52463											
FOXJ2	55810	broad.mit.edu	37	chr12	8192621	8192621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcagtgcaccaggacGgcaagccacgatacagctat	13	4	12	12	2	0	0	0	0	0	0	0	2	0	1	2	3	5	5	2	3	3	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:8192621G>T	ENST00000162391.3	+	2	1338	c.193G>T	c.(193-195)Ggc>Tgc	p.G65C	FOXJ2_ENST00000428177.2_Missense_Mutation_p.G65C	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	65					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GCACCAGGACGGCAAGCCACG	0.582													18	73					1.78486e-19	2.78249e-19	1	0	T	8192621	G	T	8192621	3	4	294	1	0	0	0	0	1	0	0	0	6059	1116	39	3	195	3	FOXJ2	12	8192621	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1462905	8192621	125659274	172	52464											
ABCC9	10060	broad.mit.edu	37	chr12	21991070	21991070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagaagtgacagagcagagGgagctgggtactatcgtcaa	13	7	15	6	1	1	4	1	2	0	3	2	6	1	5	0	2	3	3	0	2	4	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:21991070G>A	ENST00000261200.4	-	28	3507	c.3508C>T	c.(3508-3510)Cct>Tct	p.P1170S	ABCC9_ENST00000261201.4_Missense_Mutation_p.P1170S|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.P1134S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1170	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGAGCAGAGGGAGCTGGGTA	0.443													23	70					0	0	0	0	A	21991070	G	A	21991070	3	1	294	1	0	0	0	0	1	0	0	0	59	1232	43	4	1327	4	ABCC9	12	21991070	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	13798449	21991070	111860825	173	52465											
LRRK2	120892	broad.mit.edu	37	chr12	40668693	40668693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtcttataggatacttGattacaaagaagaatgtgtt	15	15	8	3	0	1	3	0	1	1	2	1	4	1	4	0	1	2	1	0	1	8	7			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:40668693G>T	ENST00000298910.7	+	16	1897	c.1839G>T	c.(1837-1839)ttG>ttT	p.L613F	LRRK2_ENST00000343742.2_Missense_Mutation_p.L613F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	613					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAGGATACTTGATTACAAAGA	0.308													4	42					2.56e-06	3.08706e-06	1	0	T	40668693	G	T	40668693	3	4	294	1	0	0	0	0	1	0	0	0	9097	1281	45	2	1901	2	LRRK2	12	40668693	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	18677623	40668693	93183202	174	52466											
LRRK2	120892	broad.mit.edu	37	chr12	40740560	40740560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcttactttcagggtttCgtgcacctgaagttgccaga	7	14	10	10	1	2	2	1	1	1	1	3	2	2	2	2	1	4	4	2	1	2	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:40740560C>T	ENST00000298910.7	+	42	6173	c.6115C>T	c.(6115-6117)Cgt>Tgt	p.R2039C		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2039	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCAGGGTTTCGTGCACCTGA	0.383													4	26					0	0	0	0	T	40740560	C	T	40740560	3	4	294	1	0	0	0	0	1	0	0	0	9097	884	31	1	6281	1	LRRK2	12	40740560	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	71867	40740560	93111335	175	52467											
AQP6	363	broad.mit.edu	37	chr12	50367220	50367220	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccgccgtgacgctggcCttcctcgtaggctcccacat	6	8	9	18	4	0	1	0	1	0	0	3	1	2	1	6	2	1	3	6	2	2	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:50367220C>T	ENST00000315520.5	+	1	601	c.264C>T	c.(262-264)gcC>gcT	p.A88A	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	88					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						TGACGCTGGCCTTCCTCGTAG	0.657													15	82					0	0	0	0	T	50367220	C	T	50367220	2	4	294	1	0	0	0	0	0	0	0	1	832	668	24	4		4	AQP6	12	50367220	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	9626660	50367220	83484675	176	52468											
LIMA1	51474	broad.mit.edu	37	chr12	50594639	50594639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccattttatgaattttgAtttcgccaccactggctttc	7	17	6	11	1	0	2	0	2	0	0	3	2	1	2	3	1	0	2	3	1	2	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:50594639A>G	ENST00000341247.4	-	7	1042	c.893T>C	c.(892-894)aTc>aCc	p.I298T	LIMA1_ENST00000547825.1_5'UTR|LIMA1_ENST00000552909.1_Missense_Mutation_p.I138T|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552783.1_Missense_Mutation_p.I138T|LIMA1_ENST00000394943.3_Missense_Mutation_p.I298T|LIMA1_ENST00000552823.1_Missense_Mutation_p.I138T	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	298					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATGAATTTTGATTTCGCCACC	0.388													56	243					0	0	0	0	G	50594639	A	G	50594639	3	3	294	1	0	0	0	0	1	0	0	0	8850	333	12	5	1409	5	LIMA1	12	50594639	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	227419	50594639	83257256	177	52469											
KRT83	3889	broad.mit.edu	37	chr12	52714970	52714970	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacacgctgtggctgccAaagcccccggtgaggccgcg	6	4	14	17	5	0	1	0	1	0	0	0	1	0	1	5	3	2	3	5	3	1	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:52714970A>G	ENST00000293670.3	-	1	212	c.150T>C	c.(148-150)ttT>ttC	p.F50F		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	50	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTGGCTGCCAAAGCCCCCGG	0.736													4	72					0	0	0	0	G	52714970	A	G	52714970	2	3	294	1	0	0	0	0	0	0	0	1	8549	127	5	5		5	KRT83	12	52714970	Silent	SNP	A	TCGA-CV-7248-01A-11D-2012-08	2120331	52714970	81136925	178	52470											
OR10A7	121364	broad.mit.edu	37	chr12	55615641	55615641	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagctagtgtcattgtcctAcactgtcatcacacctatgc	10	12	7	12	0	3	0	3	0	0	0	4	1	4	0	2	0	3	1	2	0	4	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:55615641A>G	ENST00000326258.1	+	1	833	c.833A>G	c.(832-834)tAc>tGc	p.Y278C		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCATTGTCCTACACTGTCATC	0.493													19	54					0	0	0	0	G	55615641	A	G	55615641	3	3	294	1	0	0	0	0	1	0	0	0	10966	391	14	5	835	5	OR10A7	12	55615641	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	2900671	55615641	78236254	179	52471											
RNF41	10193	broad.mit.edu	37	chr12	56600268	56600268	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgcgcaaatatcatgacaAggcctggctcttgcaccatg	11	9	9	12	1	2	1	1	1	1	0	2	1	2	1	2	2	2	3	2	2	3	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:56600268A>C	ENST00000345093.4	-	7	1286	c.917T>G	c.(916-918)cTt>cGt	p.L306R	RNF41_ENST00000394013.2_Missense_Mutation_p.L235R|RNF41_ENST00000552656.1_Missense_Mutation_p.L306R	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	306					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TATCATGACAAGGCCTGGCTC	0.527											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	178					0	0	0	0	C	56600268	A	C	56600268	3	2	294	1	0	0	0	0	1	0	0	0	13579	72	3	5	40	5	RNF41	12	56600268	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	984627	56600268	77251627	180	52472											
ALDH1L2	160428	broad.mit.edu	37	chr12	105446604	105446604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actcacagatccatctgttgGgttgatagtgtcgtaagtct	9	14	10	8	1	3	2	1	1	2	1	5	2	4	2	1	1	0	3	1	1	2	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:105446604G>T	ENST00000258494.9	-	11	1533	c.1393C>A	c.(1393-1395)Cca>Aca	p.P465T	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P465T	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	465	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CCATCTGTTGGGTTGATAGTG	0.383											OREG0022073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	39					1.76689e-08	2.32935e-08	1	0	T	105446604	G	T	105446604	3	4	294	1	0	0	0	0	1	0	0	0	495	1232	43	4	1430	4	ALDH1L2	12	105446604	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	48846336	105446604	28405291	181	52473											
NAA25	80018	broad.mit.edu	37	chr12	112528566	112528566	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaggatagtcagtgcctGcagtgagttgtcatctgtgg	9	12	14	6	0	3	1	2	1	1	0	3	2	3	2	1	2	2	3	1	2	3	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:112528566G>C	ENST00000261745.4	-	3	495	c.247C>G	c.(247-249)Cag>Gag	p.Q83E		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	83						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GTCAGTGCCTGCAGTGAGTTG	0.423													25	83					0	0	0	0	C	112528566	G	C	112528566	3	2	294	1	0	0	0	0	1	0	0	0	10191	1328	46	4	2759	4	NAA25	12	112528566	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	7081962	112528566	21323329	182	52474											
CABP1	9478	broad.mit.edu	37	chr12	121093779	121093779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagggctctctgaacccCgctccttgactctcagggtc	5	10	10	16	1	3	2	2	2	2	0	7	2	4	2	3	2	1	3	3	2	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:121093779C>T	ENST00000453000.1	+	1	678	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	CABP1_ENST00000316803.3_Intron|CABP1_ENST00000288616.3_Intron|CABP1_ENST00000351200.2_Intron			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	31						cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCTGAACCCCGCTCCTTGAC	0.592													3	6					0	0	0	0	T	121093779	C	T	121093779	3	4	294	1	0	0	0	0	1	0	0	0	2556	667	23	1		1	CABP1	12	121093779	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	8565213	121093779	12758116	183	52475											
NOC4L	79050	broad.mit.edu	37	chr12	132631856	132631856	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgcactcctgaagttcGtgcagctggaaggagcgcac	9	7	13	12	3	1	1	1	1	0	0	3	3	2	3	1	2	4	5	1	2	2	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:132631856G>C	ENST00000330579.1	+	4	417	c.376G>C	c.(376-378)Gtg>Ctg	p.V126L		NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	126					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCTGAAGTTCGTGCAGCTGGA	0.647													3	4					0	0	0	0	C	132631856	G	C	132631856	3	2	294	1	0	0	0	0	1	0	0	0	10585	1145	40	3	390	3	NOC4L	12	132631856	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	11538077	132631856	1220039	184	52476											
FLT1	2321	broad.mit.edu	37	chr13	29007977	29007977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcagggtaactccaggtCatttgaactctcgtgttcaa	10	13	8	10	1	5	1	4	1	1	0	7	1	6	1	1	2	2	2	1	2	3	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:29007977C>T	ENST00000282397.4	-	6	1043	c.792G>A	c.(790-792)atG>atA	p.M264I	FLT1_ENST00000539099.1_Missense_Mutation_p.M264I|FLT1_ENST00000541932.1_Missense_Mutation_p.M264I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	264	Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AACTCCAGGTCATTTGAACTC	0.443													10	43					0	0	0	0	T	29007977	C	T	29007977	3	4	294	1	0	0	0	0	1	0	0	0	5986	826	29	2	3587	2	FLT1	13	29007977	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08		29007977	86161901	185	52477											
LRCH1	23143	broad.mit.edu	37	chr13	47279253	47279253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttaaacctatatcctatggGatcagcagaagccttagaat	14	12	7	8	0	1	2	1	0	0	2	2	3	2	3	3	1	3	1	3	1	8	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:47279253G>A	ENST00000311191.6	+	12	1680	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	LRCH1_ENST00000389798.3_Missense_Mutation_p.G484E|LRCH1_ENST00000389797.3_Missense_Mutation_p.G484E	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	484										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TATCCTATGGGATCAGCAGAA	0.284													8	54					0	0	0	0	A	47279253	G	A	47279253	3	1	294	1	0	0	0	0	1	0	0	0	8996	1174	41	2	1497	2	LRCH1	13	47279253	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	18271276	47279253	67890625	186	52478											
FNDC3A	22862	broad.mit.edu	37	chr13	49777296	49777296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atatttgtttcctacagcccCcaaaatagagaaagtaaatg	16	11	6	8	0	0	1	0	0	0	1	1	2	1	1	3	0	2	2	3	0	8	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:49777296C>T	ENST00000492622.2	+	25	3463	c.3158C>T	c.(3157-3159)cCc>cTc	p.P1053L	FNDC3A_ENST00000541916.1_Missense_Mutation_p.P1053L|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P997L	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1053	Fibronectin type-III 9.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCTACAGCCCCCAAAATAGAG	0.303													5	24					0	0	0	0	T	49777296	C	T	49777296	3	4	294	1	0	0	0	0	1	0	0	0	6014	623	22	4	3263	4	FNDC3A	13	49777296	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	2498043	49777296	65392582	187	52479											
CKAP2	26586	broad.mit.edu	37	chr13	53036054	53036054	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccaaagaaacctcggaaGagagaaagtaagtagatata	20	5	10	6	1	0	4	0	0	0	4	1	6	0	5	2	1	2	2	2	1	8	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:53036054G>T	ENST00000378037.5	+	4	1186	c.1096G>T	c.(1096-1098)Gag>Tag	p.E366*	CKAP2_ENST00000258607.5_Nonsense_Mutation_p.E365*|CKAP2_ENST00000490903.1_Nonsense_Mutation_p.E317*|CKAP2_ENST00000378034.3_Nonsense_Mutation_p.E365*	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	366					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AACCTCGGAAGAGAGAAAGTA	0.343													11	19					6.40141e-05	7.39318e-05	1	0	T	53036054	G	T	53036054	4	4	294	1	0	0	0	0	0	1	0	0	3472	943	33	2	1110	2	CKAP2	13	53036054	Nonsense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	3258758	53036054	62133824	188	52480											
MYO16	23026	broad.mit.edu	37	chr13	109707435	109707435	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctacatttcttcaaagattGgaacgaggagatccagtcac	13	11	8	9	1	4	2	2	0	2	2	5	5	5	3	1	2	2	0	1	2	3	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:109707435G>A	ENST00000356711.2	+	26	3150	c.3024G>A	c.(3022-3024)ttG>ttA	p.L1008L	MYO16_ENST00000457511.2_Silent_p.L520L|MYO16_ENST00000357550.2_Silent_p.L1008L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1008	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCAAAGATTGGAACGAGGAG	0.343													8	30					0	0	0	0	A	109707435	G	A	109707435	2	1	294	1	0	0	0	0	0	0	0	1	10134	1339	47	4		4	MYO16	13	109707435	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	56671381	109707435	5462443	189	52481											
SOX1	6656	broad.mit.edu	37	chr13	112722188	112722188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcaagatggcccaggaGaaccccaagatgcacaactc	13	3	11	14	2	0	3	0	0	0	3	1	4	0	3	3	3	3	2	3	3	4	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:112722188G>T	ENST00000330949.1	+	1	276	c.216G>T	c.(214-216)gaG>gaT	p.E72D		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	72					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		TGGCCCAGGAGAACCCCAAGA	0.677													8	42					3.09899e-07	3.88558e-07	1	0	T	112722188	G	T	112722188	3	4	294	1	0	0	0	0	1	0	0	0	15028	933	33	2	218	2	SOX1	13	112722188	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	3014753	112722188	2447690	190	52482											
RPGRIP1	57096	broad.mit.edu	37	chr14	21771560	21771560	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaacccattggtctatgcAtgcctaacagtgcccacatc	11	10	6	14	0	1	0	0	0	1	0	2	0	1	0	3	1	5	1	3	1	4	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:21771560A>T	ENST00000206660.6	+	5	658	c.658A>T	c.(658-660)Atg>Ttg	p.M220L	RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.M220L|RPGRIP1_ENST00000557771.1_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	220					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGGTCTATGCATGCCTAACAG	0.403													13	31					0	0	0	0	T	21771560	A	T	21771560	3	4	294	1	0	0	0	0	1	0	0	0	13634	217	8	5	676	5	RPGRIP1	14	21771560	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08		21771560	85577980	191	52483											
RABGGTA	5875	broad.mit.edu	37	chr14	24736904	24736904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacacgcacctcggcatactCcatcttgagcacgctattct	9	10	6	16	3	2	1	0	1	2	0	4	1	3	1	2	1	2	4	2	1	2	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:24736904C>T	ENST00000399409.3	-	13	1798	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	RABGGTA_ENST00000560777.1_Missense_Mutation_p.E48K|RABGGTA_ENST00000216840.6_Missense_Mutation_p.E439K	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	439					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TCGGCATACTCCATCTTGAGC	0.622													8	35					0	0	0	0	T	24736904	C	T	24736904	3	4	294	1	0	0	0	0	1	0	0	0	13049	864	30	2	404	2	RABGGTA	14	24736904	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	2965344	24736904	82612636	192	52484											
PRKD1	5587	broad.mit.edu	37	chr14	30135391	30135391	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagagcgtggggacgaatctGaaagtcttcaaaggtggcgg	11	7	17	6	3	3	2	1	1	2	1	3	5	3	3	0	5	1	0	0	5	3	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:30135391G>C	ENST00000331968.5	-	3	656	c.427C>G	c.(427-429)Cag>Gag	p.Q143E	PRKD1_ENST00000415220.2_Missense_Mutation_p.Q143E	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	143					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGACGAATCTGAAAGTCTTCA	0.408													12	43					0	0	0	0	C	30135391	G	C	30135391	3	2	294	1	0	0	0	0	1	0	0	0	12598	1299	45	2	2375	2	PRKD1	14	30135391	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	5398487	30135391	77214149	193	52485											
FANCM	57697	broad.mit.edu	37	chr14	45644719	45644719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgttattaaagaaccgtGtgtgttattaacagagtgtc	14	14	9	4	1	0	2	0	0	0	2	1	2	0	2	1	0	2	2	1	0	7	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:45644719G>T	ENST00000267430.5	+	14	2847	c.2762G>T	c.(2761-2763)tGt>tTt	p.C921F	FANCM_ENST00000542564.2_Missense_Mutation_p.C895F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	921					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAGAACCGTGTGTGTTATTA	0.303								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	86					2.80697e-09	3.8362e-09	1	0	T	45644719	G	T	45644719	3	4	294	1	0	0	0	0	1	0	0	0	5716	1377	48	4	2816	4	FANCM	14	45644719	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	15509328	45644719	61704821	194	52486											
NID2	22795	broad.mit.edu	37	chr14	52520359	52520359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtccctcgacttaagggtGtagtgtgacctgaagcaggg	9	9	14	9	2	0	2	0	2	0	0	2	3	1	2	2	2	1	2	2	2	3	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:52520359G>A	ENST00000216286.5	-	5	1366	c.1367C>T	c.(1366-1368)aCa>aTa	p.T456I	NID2_ENST00000541773.1_Missense_Mutation_p.T403I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	456						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACTTAAGGGTGTAGTGTGACC	0.498													37	125					0	0	0	0	A	52520359	G	A	52520359	3	1	294	1	0	0	0	0	1	0	0	0	10485	1377	48	4	2832	4	NID2	14	52520359	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	6875640	52520359	54829181	195	52487											
DACT1	51339	broad.mit.edu	37	chr14	59112196	59112196	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagagcccaatgtttctcctTtgtctgacgggcaaccctct	7	12	8	14	1	3	2	0	1	3	1	4	2	3	2	3	1	2	2	3	1	2	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:59112196T>C	ENST00000395153.3	+	4	891	c.744T>C	c.(742-744)ctT>ctC	p.L248L	DACT1_ENST00000395151.3_Silent_p.L4L|DACT1_ENST00000335867.4_Silent_p.L285L|DACT1_ENST00000541264.2_Silent_p.L4L|DACT1_ENST00000556859.1_Silent_p.L4L	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	285					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGTTTCTCCTTTGTCTGACGG	0.502													13	67					0	0	0	0	C	59112196	T	C	59112196	2	2	294	1	0	0	0	0	0	0	0	1	4255	1828	64	5		5	DACT1	14	59112196	Silent	SNP	T	TCGA-CV-7248-01A-11D-2012-08	6591837	59112196	48237344	196	52488											
SYT16	83851	broad.mit.edu	37	chr14	62547851	62547851	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagatgtggctgcctgTgctgtccgcttccgcctgta	4	11	12	14	2	0	1	0	0	0	1	2	2	2	1	5	1	2	4	5	1	1	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:62547851T>C	ENST00000430451.2	+	4	1490	c.1293T>C	c.(1291-1293)tgT>tgC	p.C431C	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	431	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGCTGCCTGTGCTGTCCGCT	0.572													6	23					0	0	0	0	C	62547851	T	C	62547851	2	2	294	1	0	0	0	0	0	0	0	1	15563	1702	59	5		5	SYT16	14	62547851	Silent	SNP	T	TCGA-CV-7248-01A-11D-2012-08	3435655	62547851	44801689	197	52489											
PPP4R4	57718	broad.mit.edu	37	chr14	94640869	94640869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcctgttcggttacatggagGacctgcaggagctcaccatc	8	9	12	12	1	1	0	1	0	0	0	3	3	1	3	3	4	3	4	3	4	1	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:94640869G>A	ENST00000304338.3	+	1	221	c.67G>A	c.(67-69)Gac>Aac	p.D23N	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.D23N	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	23						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTACATGGAGGACCTGCAGGA	0.721													19	36					0	0	0	0	A	94640869	G	A	94640869	3	1	294	1	0	0	0	0	1	0	0	0	12481	1174	41	2	69	2	PPP4R4	14	94640869	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	32093018	94640869	12708671	198	52490											
RTL1	388015	broad.mit.edu	37	chr14	101349302	101349302	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcggtggagggacactcGtaaaaggtctcgctgtgatc	8	8	16	9	4	1	1	0	1	1	0	4	3	1	3	0	5	0	2	0	5	2	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:101349302G>T	ENST00000534062.1	-	1	1882	c.1824C>A	c.(1822-1824)taC>taA	p.Y608*		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	608										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGGGACACTCGTAAAAGGTCT	0.567													8	35					3.09899e-07	3.88558e-07	1	0	T	101349302	G	T	101349302	4	4	294	1	0	0	0	0	0	1	0	0	13809	1140	40	3	2256	3	RTL1	14	101349302	Nonsense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	6708433	101349302	6000238	199	52491											
OR4M2	390538	broad.mit.edu	37	chr15	22369359	22369359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	catccatctacatttatgctCgcccatttgactcgttttcc	7	16	4	14	2	1	1	0	1	1	0	5	1	3	1	3	0	2	2	3	0	2	6	rs145231732		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:22369359C>G	ENST00000332663.2	+	1	882	c.784C>G	c.(784-786)Cgc>Ggc	p.R262G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CATTTATGCTCGCCCATTTGA	0.418													6	141					0	0	0	0	G	22369359	C	G	22369359	3	3	294	1	0	0	0	0	1	0	0	0	11147	884	31	3	786	3	OR4M2	15	22369359	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08		22369359	80162033	200	52492											
SNRPN	6638	broad.mit.edu	37	chr15	25222051	25222051	+	Nonsense_Mutation	SNP	G	G	T																															ttgctcgggtaccacttgctGgagctgctggaggccctggg																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:25222051G>T	ENST00000444203.2	+	5	1346	c.307G>T	c.(307-309)Gga>Tga	p.G103*	SNRPN_ENST00000346403.6_Nonsense_Mutation_p.G99*|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000390687.4_Nonsense_Mutation_p.G99*|SNRPN_ENST00000577565.1_Nonsense_Mutation_p.G99*|SNRPN_ENST00000554227.2_Nonsense_Mutation_p.G103*|SNRPN_ENST00000400097.1_Nonsense_Mutation_p.G99*|SNRPN_ENST00000400098.1_Nonsense_Mutation_p.G99*|SNRPN_ENST00000400100.1_Nonsense_Mutation_p.G99*			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	99					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	p.G99*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ACCACTTGCTGGAGCTGCTGG	0.512									Prader-Willi syndrome				13	75					6.31663e-08	8.16977e-08	1	0	T	25222051	G	T	25222051	4	4	294	1	0	0	0	0	0	1	0	0	14958	1349	47	4	309	4	SNRPN	15	25222051	Nonsense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	2852692	25222051	77309341	201	52493	415	2									
SNRPN	6638	broad.mit.edu	37	chr15	25222052	25222052	+	Missense_Mutation	SNP	G	G	T																															tgctcgggtaccacttgctgGagctgctggaggccctgggg																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:25222052G>T	ENST00000444203.2	+	5	1347	c.308G>T	c.(307-309)gGa>gTa	p.G103V	SNRPN_ENST00000346403.6_Missense_Mutation_p.G99V|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000390687.4_Missense_Mutation_p.G99V|SNRPN_ENST00000577565.1_Missense_Mutation_p.G99V|SNRPN_ENST00000554227.2_Missense_Mutation_p.G103V|SNRPN_ENST00000400097.1_Missense_Mutation_p.G99V|SNRPN_ENST00000400098.1_Missense_Mutation_p.G99V|SNRPN_ENST00000400100.1_Missense_Mutation_p.G99V			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	99					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CCACTTGCTGGAGCTGCTGGA	0.512									Prader-Willi syndrome				14	75					1.99824e-07	2.52863e-07	1	0	T	25222052	G	T	25222052	3	4	294	1	0	0	0	0	1	0	0	0	14958	1174	41	2	310	2	SNRPN	15	25222052	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1	25222052	77309340	202	52494	415	2									
ONECUT1	3175	broad.mit.edu	37	chr15	53050034	53050034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcccatgttcttgttctttCcttttgcatgctgtgaagaa	6	19	7	9	0	2	2	0	1	2	1	4	2	4	2	2	0	2	4	2	0	2	7			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:53050034C>T	ENST00000560699.2	-	2	598	c.38G>A	c.(37-39)gGa>gAa	p.G13E	ONECUT1_ENST00000305901.5_Silent_p.R372R|ONECUT1_ENST00000561401.2_5'UTR			Q9UBC0	HNF6_HUMAN	one cut homeobox 1	0					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTTGTTCTTTCCTTTTGCATG	0.423													17	95					0	0	0	0	T	53050034	C	T	53050034	3	4	294	1	0	0	0	0	1	0	0	0	10939	854	30	2	285	2	ONECUT1	15	53050034	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	27827982	53050034	49481358	203	52495											
UNC13C	440279	broad.mit.edu	37	chr15	54847645	54847645	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggagcacatgattcgaGaggatgccaggggtctgacg	10	7	15	9	2	1	3	0	2	1	1	3	6	2	5	2	4	2	1	2	4	0	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:54847645G>T	ENST00000545554.1	+	28	5893	c.5893G>T	c.(5893-5895)Gag>Tag	p.E1965*	UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E1965*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E1963*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1965	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CATGATTCGAGAGGATGCCAG	0.413													6	45					8.12818e-05	9.36111e-05	1	0	T	54847645	G	T	54847645	4	4	294	1	0	0	0	0	0	1	0	0	17082	943	33	2	5999	2	UNC13C	15	54847645	Nonsense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1797611	54847645	47683747	204	52496											
CCPG1	9236	broad.mit.edu	37	chr15	55657499	55657499	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttgacgcttctgaatctGaattgtgcctaaaataaata	13	14	7	7	1	2	3	0	3	2	0	2	3	2	3	1	0	1	2	1	0	7	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:55657499G>A	ENST00000310958.6	-	7	1013	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	CCPG1_ENST00000569205.1_Nonsense_Mutation_p.Q239*|CCPG1_ENST00000425574.3_Nonsense_Mutation_p.Q239*|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.Q239*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	239	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCTGAATCTGAATTGTGCCt	0.269													15	70					0	0	0	0	A	55657499	G	A	55657499	4	1	294	1	0	0	0	0	0	1	0	0	2967	1299	45	2	1566	2	CCPG1	15	55657499	Nonsense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	809854	55657499	46873893	205	52497											
VPS13C	54832	broad.mit.edu	37	chr15	62217667	62217667	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtactaaccttaattataaaTtctttaaccataatatttat	16	18	1	6	0	1	0	0	0	1	0	1	0	1	0	2	0	3	1	2	0	10	12			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:62217667T>G	ENST00000261517.5	-	53	6670	c.6597A>C	c.(6595-6597)gaA>gaC	p.E2199D	VPS13C_ENST00000395898.3_Missense_Mutation_p.E2156D|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2199D|VPS13C_ENST00000249837.3_Missense_Mutation_p.E2156D	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2199					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TAATTATAAATTCTTTAACCA	0.294													3	5					0	0	0	0	G	62217667	T	G	62217667	3	3	294	1	0	0	0	0	1	0	0	0	17287	1490	52	5	4824	5	VPS13C	15	62217667	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	6560168	62217667	40313725	206	52498											
KIAA1024	23251	broad.mit.edu	37	chr15	79748907	79748907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtgagcccctgaactgtGagctgagtgagaggtctttc	8	11	14	8	0	1	5	0	5	1	1	2	6	1	5	2	1	3	1	2	1	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:79748907G>A	ENST00000305428.3	+	2	493	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	140						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCTGAACTGTGAGCTGAGTGA	0.577													9	82					0	0	0	0	A	79748907	G	A	79748907	3	1	294	1	0	0	0	0	1	0	0	0	8256	1291	45	2	420	2	KIAA1024	15	79748907	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	17531240	79748907	22782485	207	52499											
ACAN	176	broad.mit.edu	37	chr15	89417692	89417692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggcaccctcggaggagcCgccccagcacagcccactga	9	2	11	19	3	0	1	0	1	0	0	1	3	0	3	5	3	3	2	5	3	0	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:89417692C>A	ENST00000439576.2	+	18	7947	c.7573C>A	c.(7573-7575)Cgc>Agc	p.R2525S	ACAN_ENST00000561243.1_Missense_Mutation_p.R2525S|ACAN_ENST00000352105.7_Missense_Mutation_p.R2426S|ACAN_ENST00000559004.1_Missense_Mutation_p.R2487S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2525					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCGGAGGAGCCGCCCCAGCAC	0.617													4	13					0.00909568	0.009788	1	0	A	89417692	C	A	89417692	3	1	294	1	0	0	0	0	1	0	0	0	117	652	23	3	7639	3	ACAN	15	89417692	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	9668785	89417692	13113700	208	52500											
CHP2	63928	broad.mit.edu	37	chr16	23767219	23767219	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgtgaaccccctgggagaCcgaattatagaaagcttctt	11	9	10	11	2	1	3	0	1	1	2	1	5	1	3	4	1	2	1	4	1	5	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr16:23767219C>T	ENST00000300113.2	+	3	615	c.192C>T	c.(190-192)gaC>gaT	p.D64D		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	64							calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CCCTGGGAGACCGAATTATAG	0.592													4	46					0	0	0	0	T	23767219	C	T	23767219	2	4	294	1	0	0	0	0	0	0	0	1	3396	506	18	4		4	CHP2	16	23767219	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08		23767219	66587534	209	52501											
CNOT1	23019	broad.mit.edu	37	chr16	58612676	58612676	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggaaaattggcatcagagtgGagataagttcatggcgcaag	14	8	14	5	1	2	2	2	0	0	2	2	4	2	3	0	4	0	3	0	4	4	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:58612676G>C	ENST00000317147.5	-	13	1843	c.1511C>G	c.(1510-1512)tCc>tGc	p.S504C	CNOT1_ENST00000441024.2_Missense_Mutation_p.S504C|CNOT1_ENST00000569240.1_Missense_Mutation_p.S504C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	504					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CATCAGAGTGGAGATAAGTTC	0.448													9	65					0	0	0	0	C	58612676	G	C	58612676	3	2	294	1	0	0	0	0	1	0	0	0	3647	1174	41	2	5989	2	CNOT1	16	58612676	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	34845457	58612676	31742077	210	52502											
SMPD3	55512	broad.mit.edu	37	chr16	68395622	68395622	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgagctcttgctggtgggaaAcgccaggtactccctgcggc	6	8	14	13	3	1	0	0	0	1	0	2	2	2	1	2	4	5	3	2	4	2	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:68395622A>T	ENST00000219334.5	-	8	2353	c.1750T>A	c.(1750-1752)Ttt>Att	p.F584I	SMPD3_ENST00000563226.1_Missense_Mutation_p.F576I|SMPD3_ENST00000568373.1_Intron	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	584					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CTGGTGGGAAACGCCAGGTAC	0.682													20	57					0	0	0	0	T	68395622	A	T	68395622	3	4	294	1	0	0	0	0	1	0	0	0	14894	43	2	5	225	5	SMPD3	16	68395622	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	9782946	68395622	21959131	211	52503											
PMFBP1	83449	broad.mit.edu	37	chr16	72188257	72188257	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgttgaaggaccagcaaTtttttcttcagttgctggag	8	16	10	7	0	3	1	1	1	2	0	3	3	3	3	1	2	2	4	1	2	2	7			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:72188257T>A	ENST00000537465.1	-	4	425	c.267A>T	c.(265-267)aaA>aaT	p.K89N	PMFBP1_ENST00000237353.10_Missense_Mutation_p.K89N|PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	89										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)				GGACCAGCAATTTTTTCTTCA	0.453													17	88					0	0	0	0	A	72188257	T	A	72188257	3	1	294	1	0	0	0	0	1	0	0	0	12206	1490	52	5	2888	5	PMFBP1	16	72188257	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	3792635	72188257	18166496	212	52504											
PKD1L2	114780	broad.mit.edu	37	chr16	81236234	81236234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctccatcttgtctcgcacGgtcacctgcctctgagctgt	4	13	9	15	2	5	1	1	1	4	0	7	1	5	1	3	1	2	2	3	1	0	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:81236234G>A	ENST00000599697.1	-	6	1013	c.1014C>T	c.(1012-1014)acC>acT	p.T338T	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	338					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTCTCGCACGGTCACCTGCC	0.582													20	60					0	0	0	0	A	81236234	G	A	81236234	2	1	294	1	0	0	0	0	0	0	0	1	12037	1103	39	1		1	PKD1L2	16	81236234	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	9047977	81236234	9118519	213	52505											
TP53	7157	broad.mit.edu	37	chr17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggttcatgccgcccatgCaggaactgttacacatgtag	9	10	10	12	2	1	0	1	0	0	0	2	1	2	1	3	2	4	4	3	2	3	3	rs121912655		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:7577556C>A	ENST00000420246.2	-	7	857	c.725G>T	c.(724-726)tGc>tTc	p.C242F	TP53_ENST00000455263.2_Missense_Mutation_p.C242F|TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000359597.4_Missense_Mutation_p.C242F|TP53_ENST00000269305.4_Missense_Mutation_p.C242F|TP53_ENST00000445888.2_Missense_Mutation_p.C242F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGCCCATGCAGGAACTGTT	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	44					3.00307e-07	3.78848e-07	1	0	A	7577556	C	A	7577556	3	1	294	1	0	0	0	0	1	0	0	0	16476	710	25	4	565	4	TP53	17	7577556	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08		7577556	73617654	214	52506											
NTN1	9423	broad.mit.edu	37	chr17	8926249	8926249	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccgcaagatgtacaacCggccgcaccgcgcgcccatc	9	4	11	17	6	0	1	0	0	0	1	1	1	0	1	5	1	3	3	5	1	3	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr17:8926249C>A	ENST00000173229.2	+	2	666	c.559C>A	c.(559-561)Cgg>Agg	p.R187R	NTN1_ENST00000546090.1_Silent_p.R187R|NTN1_ENST00000538852.1_Silent_p.R187R	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	187	Laminin N-terminal.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GATGTACAACCGGCCGCACCG	0.667													4	21					0.00909568	0.00977376	1	0	A	8926249	C	A	8926249	2	1	294	1	0	0	0	0	0	0	0	1	10771	643	23	3		3	NTN1	17	8926249	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	1348693	8926249	72268961	215	52507											
MYH8	4626	broad.mit.edu	37	chr17	10305003	10305003	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgatctcttcctcctcctCagctctttcagtcacctctt	5	17	3	16	0	6	1	3	1	3	0	10	1	9	1	4	0	1	1	4	0	0	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:10305003C>G	ENST00000403437.2	-	23	2882	c.2788G>C	c.(2788-2790)Gag>Cag	p.E930Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	930					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCTCCTCCTCAGCTCTTTCA	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				38	273					0	0	0	0	G	10305003	C	G	10305003	3	3	294	1	0	0	0	0	1	0	0	0	10111	835	29	2	3097	2	MYH8	17	10305003	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	1378754	10305003	70890207	216	52508											
LYZL6	57151	broad.mit.edu	37	chr17	34263770	34263770	+	Frame_Shift_Del	DEL	C	C	-																															cctcctcaccagttgttcatCccccgtgctccggacacaat																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:34263770delC	ENST00000585556.1	-	4	700	c.366delG	c.(364-366)ggfs	p.G122fs	LYZL6_ENST00000293274.4_Frame_Shift_Del_p.G122fs|LYZL6_ENST00000394523.3_Frame_Shift_Del_p.G122fs			O75951	LYZL6_HUMAN	lysozyme-like 6	122					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTTGTTCATCCCCCGTGCTC	0.572													31	139	---	---	---	---					-	34263770	C	-	34263770	7	5	294	1	0	1	0	1	0	0	0	0	9199	842	30	0	88	0	LYZL6	17	34263770	Frame_Shift_Del	DEL	C	TCGA-CV-7248-01A-11D-2012-08	23958767	34263770	46931440	217	52509											
LHX1	3975	broad.mit.edu	37	chr17	35298160	35298160	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagctggcgcaggagacCggcctcaacatgcgcgtcat	9	5	14	13	4	2	1	2	0	0	1	2	3	2	1	2	3	4	3	2	3	1	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:35298160C>A	ENST00000254457.5	+	3	2062	c.651C>A	c.(649-651)acC>acA	p.T217T	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	217					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CGCAGGAGACCGGCCTCAACA	0.672													4	13					0.00909568	0.009788	1	0	A	35298160	C	A	35298160	2	1	294	1	0	0	0	0	0	0	0	1	8824	639	23	3		3	LHX1	17	35298160	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	1034390	35298160	45897050	218	52510											
MED24	9862	broad.mit.edu	37	chr17	38184186	38184186	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcgctgccataggttgTgaattcattcaaactgaaag	11	14	8	8	1	3	2	2	2	1	0	4	2	3	2	1	1	2	2	1	1	4	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:38184186T>A	ENST00000394126.1	-	14	1916	c.1498A>T	c.(1498-1500)Aca>Tca	p.T500S	MED24_ENST00000394128.2_Missense_Mutation_p.T475S|MED24_ENST00000394127.2_Missense_Mutation_p.T462S|MED24_ENST00000356271.3_Missense_Mutation_p.T462S|MED24_ENST00000501516.3_Missense_Mutation_p.T494S			O75448	MED24_HUMAN	mediator complex subunit 24	475					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CCATAGGTTGTGAATTCATTC	0.577													4	130					0	0	0	0	A	38184186	T	A	38184186	3	1	294	1	0	0	0	0	1	0	0	0	9511	1696	59	5	1594	5	MED24	17	38184186	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	2886026	38184186	43011024	219	52511											
BRCA1	672	broad.mit.edu	37	chr17	41245558	41245558	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatgagttgtaggtttcTgctgtgcctgactggcattt	5	17	11	8	0	1	2	0	2	1	0	2	2	2	2	2	2	2	5	2	2	1	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:41245558T>C	ENST00000309486.4	-	9	2129	c.1102A>G	c.(1102-1104)Aga>Gga	p.R368G	BRCA1_ENST00000493795.1_Missense_Mutation_p.R617G|BRCA1_ENST00000471181.2_Missense_Mutation_p.R664G|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.R664G|BRCA1_ENST00000354071.3_Missense_Mutation_p.R664G|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.R664G|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	664					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTAGGTTTCTGCTGTGCCTG	0.393			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			16	96					0	0	0	0	C	41245558	T	C	41245558	3	2	294	1	0	0	0	0	1	0	0	0	1506	1588	55	5	3727	5	BRCA1	17	41245558	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	3061372	41245558	39949652	220	52512											
CDC27	996	broad.mit.edu	37	chr17	45219297	45219297	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtattgtagtggtgagaaggTagatggctcaaaatatttat	13	14	12	2	0	1	2	1	1	0	2	1	3	1	2	0	3	0	4	0	3	8	7			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:45219297T>G	ENST00000066544.3	-	12	1566	c.1473A>C	c.(1471-1473)ctA>ctC	p.L491L	CDC27_ENST00000531206.1_Silent_p.L497L|CDC27_ENST00000446365.2_Silent_p.L430L|CDC27_ENST00000527547.1_Silent_p.L490L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	491					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGTGAGAAGGTAGATGGCTCA	0.378													4	158					0	0	0	0	G	45219297	T	G	45219297	2	3	294	1	0	0	0	0	0	0	0	1	3095	1625	57	5		5	CDC27	17	45219297	Silent	SNP	T	TCGA-CV-7248-01A-11D-2012-08	3973739	45219297	35975913	221	52513											
STRADA	92335	broad.mit.edu	37	chr17	61791420	61791420	+	Frame_Shift_Del	DEL	C	C	-																															tggcagaaagctactcatgaCctcctgtttagagaaggatg																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:61791420delC	ENST00000392950.4	-	3	334	c.61delG	c.(61-63)tcfs	p.V21fs	STRADA_ENST00000336174.6_Frame_Shift_Del_p.V58fs|STRADA_ENST00000375840.4_5'UTR|STRADA_ENST00000447001.3_Intron|STRADA_ENST00000245865.5_5'UTR|STRADA_ENST00000580039.1_Intron|STRADA_ENST00000579340.1_5'UTR|STRADA_ENST00000582137.1_Frame_Shift_Del_p.V29fs|RP11-51F16.8_ENST00000580553.1_3'UTR	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	58					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CTACTCATGACCTCCTGTTTA	0.488													19	62	---	---	---	---					-	61791420	C	-	61791420	7	5	294	1	0	1	0	1	0	0	0	0	15414	507	18	0	1217	0	STRADA	17	61791420	Frame_Shift_Del	DEL	C	TCGA-CV-7248-01A-11D-2012-08	16572123	61791420	19403790	222	52514											
GRIN2C	2905	broad.mit.edu	37	chr17	72846860	72846860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggcactgtagcgaggcCacacggggtacttcatgtat	10	8	14	9	2	1	1	1	0	0	1	1	3	1	1	1	4	2	4	1	4	3	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:72846860C>G	ENST00000293190.5	-	5	1306	c.1160G>C	c.(1159-1161)tGg>tCg	p.W387S	GRIN2C_ENST00000347612.4_Missense_Mutation_p.W387S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	387					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GTAGCGAGGCCACACGGGGTA	0.657													8	19					0	0	0	0	G	72846860	C	G	72846860	3	3	294	1	0	0	0	0	1	0	0	0	6831	595	21	4	2577	4	GRIN2C	17	72846860	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	11055440	72846860	8348350	223	52515											
PTPRM	5797	broad.mit.edu	37	chr18	7949203	7949203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatgtgcgagatgctcctCtgaaggaaatcaaggtgacc	11	10	12	8	1	2	4	1	3	1	1	3	6	3	5	2	2	2	1	2	2	3	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:7949203C>T	ENST00000332175.8	+	6	1725	c.688C>T	c.(688-690)Ctg>Ttg	p.L230L	PTPRM_ENST00000444013.1_Silent_p.L17L|PTPRM_ENST00000400053.4_Silent_p.L168L|PTPRM_ENST00000400060.4_Silent_p.L230L|PTPRM_ENST00000580170.1_Silent_p.L230L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	230	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGATGCTCCTCTGAAGGAAAT	0.473													13	78					0	0	0	0	T	7949203	C	T	7949203	2	4	294	1	0	0	0	0	0	0	0	1	12888	912	32	2		2	PTPRM	18	7949203	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08		7949203	70128045	224	52516											
CDH19	28513	broad.mit.edu	37	chr18	64178851	64178851	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattgttagtgtcttctacAgatagattaaagtaaaaatg	16	14	8	3	0	2	2	0	0	2	2	2	3	2	2	0	0	1	2	0	0	9	7			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:64178851A>T	ENST00000262150.2	-	10	1822	c.1530T>A	c.(1528-1530)tcT>tcA	p.S510S	CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	510	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGTCTTCTACAGATAGATTAA	0.308													9	30					0	0	0	0	T	64178851	A	T	64178851	2	4	294	1	0	0	0	0	0	0	0	1	3133	175	7	5		5	CDH19	18	64178851	Silent	SNP	A	TCGA-CV-7248-01A-11D-2012-08	56229648	64178851	13898397	225	52517											
CDH19	28513	broad.mit.edu	37	chr18	64202257	64202257	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaatacttaggttgtaccaAgcactgatttcacgatccag	12	12	8	9	1	1	1	1	1	0	0	2	2	2	1	2	1	3	4	2	1	5	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:64202257A>T	ENST00000262150.2	-	8	1594	c.1302T>A	c.(1300-1302)gcT>gcA	p.A434A	CDH19_ENST00000540086.1_Silent_p.A434A	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	434	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GGTTGTACCAAGCACTGATTT	0.323													6	28					0	0	0	0	T	64202257	A	T	64202257	2	4	294	1	0	0	0	0	0	0	0	1	3133	59	3	5		5	CDH19	18	64202257	Silent	SNP	A	TCGA-CV-7248-01A-11D-2012-08	23406	64202257	13874991	226	52518											
DOK6	220164	broad.mit.edu	37	chr18	67266726	67266726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcgaagacatttgcctGtgagtcaggtaagctattat	13	12	9	7	1	1	2	1	1	0	1	2	3	1	2	1	1	3	2	1	1	5	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:67266726G>T	ENST00000382713.5	+	3	471	c.281G>T	c.(280-282)tGt>tTt	p.C94F	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	94	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ACATTTGCCTGTGAGTCAGGT	0.448													5	19					5.9392e-07	7.37901e-07	1	0	T	67266726	G	T	67266726	3	4	294	1	0	0	0	0	1	0	0	0	4737	1377	48	4	291	4	DOK6	18	67266726	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	3064469	67266726	10810522	227	52519											
HMHA1	23526	broad.mit.edu	37	chr19	1080953	1080953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagtggaccgttccgccacGaggggctgtccaaggcggcc	6	5	15	15	4	0	0	0	0	0	0	2	2	2	1	6	5	0	2	6	5	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:1080953G>A	ENST00000313093.2	+	17	2311	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	HMHA1_ENST00000536472.1_Missense_Mutation_p.E562K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E710K|HMHA1_ENST00000586866.1_Missense_Mutation_p.E698K|HMHA1_ENST00000590577.1_Missense_Mutation_p.E329K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E721K|HMHA1_ENST00000543365.1_Missense_Mutation_p.E577K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	694					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GTTCCGCCACGAGGGGCTGTC	0.692													3	20					0	0	0	0	A	1080953	G	A	1080953	3	1	294	1	0	0	0	0	1	0	0	0	7290	1059	37	1	2146	1	HMHA1	19	1080953	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08		1080953	58048030	228	52520											
TRIP10	9322	broad.mit.edu	37	chr19	6746509	6746509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgcccccagagcagcagcGaaaacggcttcaacagcagt	12	5	10	14	2	1	1	1	0	0	1	1	2	1	1	2	1	7	4	2	1	3	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:6746509G>A	ENST00000600428.1	+	10	1353	c.707G>A	c.(706-708)cGa>cAa	p.R236Q	TRIP10_ENST00000313244.9_Missense_Mutation_p.R400Q|TRIP10_ENST00000313285.8_Missense_Mutation_p.R344Q|TRIP10_ENST00000596758.1_Missense_Mutation_p.R344Q			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	354	Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GAGCAGCAGCGAAAACGGCTT	0.547													10	75					0	0	0	0	A	6746509	G	A	6746509	3	1	294	1	0	0	0	0	1	0	0	0	16649	1058	37	1	1069	1	TRIP10	19	6746509	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	5665556	6746509	52382474	229	52521											
ARHGEF18	23370	broad.mit.edu	37	chr19	7506611	7506611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacagctgatgactctctGtcccttacatctccaaacac	11	10	5	15	0	2	3	0	2	2	1	5	3	3	3	2	0	3	1	2	0	2	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:7506611G>T	ENST00000593531.1	+	5	488	c.488G>T	c.(487-489)tGt>tTt	p.C163F	ARHGEF18_ENST00000319670.9_Silent_p.L47L|ARHGEF18_ENST00000359920.6_Silent_p.L205L																							ATGACTCTCTGTCCCTTACAT	0.458													27	96					2.12542e-12	3.07922e-12	1	0	T	7506611	G	T	7506611	3	4	294	1	0	0	0	0	1	0	0	0	903	1364	48	4	621	4	ARHGEF18	19	7506611	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	760102	7506611	51622372	230	52522											
FBN3	84467	broad.mit.edu	37	chr19	8196594	8196594	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcacgtgggtgtccaCgcacacgcggccatccgtgc	5	6	14	16	6	0	0	0	0	0	0	2	0	2	0	3	2	2	3	3	2	0	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:8196594C>G	ENST00000600128.1	-	15	2248	c.1834G>C	c.(1834-1836)Gtg>Ctg	p.V612L	FBN3_ENST00000270509.2_Missense_Mutation_p.V612L|FBN3_ENST00000601739.1_Missense_Mutation_p.V612L			Q75N90	FBN3_HUMAN	fibrillin 3	612	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGGTGTCCACGCACACGCGG	0.687													3	46					0	0	0	0	G	8196594	C	G	8196594	3	3	294	1	0	0	0	0	1	0	0	0	5749	536	19	3	6795	3	FBN3	19	8196594	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	689983	8196594	50932389	231	52523											
MUC16	94025	broad.mit.edu	37	chr19	9010683	9010683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggaggatggagtccctgagGtcccaaggtccactgtggag	8	7	17	9	0	0	1	0	1	0	0	3	5	3	5	3	6	0	0	3	6	1	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:9010683G>C	ENST00000397910.4	-	38	39181	c.38978C>G	c.(38977-38979)aCc>aGc	p.T12993S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12995					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						AGTCCCTGAGGTCCCAAGGTC	0.512													6	26					0	0	0	0	C	9010683	G	C	9010683	3	2	294	1	0	0	0	0	1	0	0	0	10043	1261	44	4	4733	4	MUC16	19	9010683	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	814089	9010683	50118300	232	52524											
KEAP1	9817	broad.mit.edu	37	chr19	10602622	10602622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaccttgggcgcccggCagggcatcacctgcgtgggc	4	5	16	16	3	1	0	1	0	0	0	1	0	1	0	4	5	1	2	4	5	0	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:10602622C>A	ENST00000171111.5	-	3	1503	c.956G>T	c.(955-957)tGc>tTc	p.C319F	KEAP1_ENST00000393623.2_Missense_Mutation_p.C319F|KEAP1_ENST00000588024.1_Intron	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GGGCGCCCGGCAGGGCATCAC	0.642													14	34					9.31168e-06	1.11306e-05	1	0	A	10602622	C	A	10602622	3	1	294	1	0	0	0	0	1	0	0	0	8193	710	25	4	934	4	KEAP1	19	10602622	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	1591939	10602622	48526361	233	52525											
RGL3	57139	broad.mit.edu	37	chr19	11527319	11527319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttgaagctcagatcttgtaCcgctgtcttcttgatctcta	7	16	8	10	1	5	3	1	2	4	1	6	3	5	3	1	0	2	4	1	0	3	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:11527319C>T	ENST00000380456.3	-	4	457	c.394G>A	c.(394-396)Gta>Ata	p.V132I	RGL3_ENST00000393423.3_Missense_Mutation_p.V132I	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	132	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		p.V132L(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGATCTTGTACCGCTGTCTTC	0.567													23	94					0	0	0	0	T	11527319	C	T	11527319	3	4	294	1	0	0	0	0	1	0	0	0	13360	507	18	4	1820	4	RGL3	19	11527319	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	924697	11527319	47601664	234	52526											
ZNF257	113835	broad.mit.edu	37	chr19	22271482	22271482	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcaacataagagaattcaTactggagagaaaccctacaa	19	7	6	9	0	2	2	2	0	0	2	2	5	2	3	1	1	4	0	1	1	7	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:22271482T>A	ENST00000594947.1	+	4	1074	c.930T>A	c.(928-930)caT>caA	p.H310Q		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGAGAATTCATACTGGAGAGA	0.408													4	52					0	0	0	0	A	22271482	T	A	22271482	3	1	294	1	0	0	0	0	1	0	0	0	17895	1403	49	5	944	5	ZNF257	19	22271482	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	10744163	22271482	36857501	235	52527											
ZNF99	7652	broad.mit.edu	37	chr19	22952031	22952031	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtttctgtagttctctaaCataacattcctatataaatt	13	17	4	7	0	2	0	0	0	2	0	4	0	3	0	1	1	2	3	1	1	7	10			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:22952031C>G	ENST00000397104.3	-	2	161	c.162G>C	c.(160-162)atG>atC	p.M54I	ZNF99_ENST00000596209.1_Missense_Mutation_p.M33I					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTTCTCTAACATAACATTCC	0.393													7	78					0	0	0	0	G	22952031	C	G	22952031	3	3	294	1	0	0	0	0	1	0	0	0	18297	478	17	4	2974	4	ZNF99	19	22952031	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	680549	22952031	36176952	236	52528											
SIRT2	22933	broad.mit.edu	37	chr19	39390156	39390156	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgactcacggtctggctcTgccatgggcgcggtgctgaa	5	8	14	14	4	3	1	1	1	2	0	3	2	3	1	2	4	2	2	2	4	1	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:39390156T>C	ENST00000249396.7	-	1	307	c.6A>G	c.(4-6)gcA>gcG	p.A2A	SIRT2_ENST00000358931.5_Silent_p.A2A|SIRT2_ENST00000481381.1_5'UTR|SIRT2_ENST00000392081.2_5'UTR	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	2					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GGTCTGGCTCTGCCATGGGCG	0.706													12	34					0	0	0	0	C	39390156	T	C	39390156	2	2	294	1	0	0	0	0	0	0	0	1	14426	1567	55	5		5	SIRT2	19	39390156	Silent	SNP	T	TCGA-CV-7248-01A-11D-2012-08	16438125	39390156	19738827	237	52529											
MEGF8	1954	broad.mit.edu	37	chr19	42860263	42860263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgtgcatctgtgccgaggGcttcgggggccccgactgcg	3	9	17	12	4	1	0	0	0	1	0	2	2	1	0	3	3	3	2	3	3	0	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:42860263G>A	ENST00000334370.4	+	24	4855	c.4220G>A	c.(4219-4221)gGc>gAc	p.G1407D	MEGF8_ENST00000251268.6_Missense_Mutation_p.G1474D	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1474	EGF-like 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGTGCCGAGGGCTTCGGGGGC	0.672													9	13					0	0	0	0	A	42860263	G	A	42860263	3	1	294	1	0	0	0	0	1	0	0	0	9532	1203	42	4	4314	4	MEGF8	19	42860263	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	3470107	42860263	16268720	238	52530											
PSG7	5676	broad.mit.edu	37	chr19	43439857	43439857	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcccctcggaaactttTggtggctgggcttcaatcgt	5	14	10	12	2	1	0	1	0	0	0	5	1	3	1	3	4	1	2	3	4	2	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:43439857T>C	ENST00000406070.2	-	0	225				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CGGAAACTTTTGGTGGCTGGG	0.493													27	167					0	0	0	0	C	43439857	T	C	43439857	1	2	294	0	1	0	0	0	0	0	0	0	12739	1799	63	5		5	PSG7	19	43439857	RNA	SNP	T	TCGA-CV-7248-01A-11D-2012-08	579594	43439857	15689126	239	52531											
DHX34	9704	broad.mit.edu	37	chr19	47863303	47863303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacctcagtcaccattgacGggatccgcttcgtagtagat	10	10	10	11	3	2	3	2	1	0	2	4	4	3	4	3	1	0	3	3	1	2	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:47863303G>T	ENST00000328771.4	+	5	1700	c.1351G>T	c.(1351-1353)Ggg>Tgg	p.G451W	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	451	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CACCATTGACGGGATCCGCTT	0.592													33	100					2.08457e-15	3.14218e-15	1	0	T	47863303	G	T	47863303	3	4	294	1	0	0	0	0	1	0	0	0	4544	1116	39	3	1365	3	DHX34	19	47863303	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	4423446	47863303	11265680	240	52532											
CRX	1406	broad.mit.edu	37	chr19	48337742	48337742	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccccactattctgtcaaCgccttggccctaagtggccc	6	9	10	16	1	2	0	1	0	1	0	2	0	2	0	5	3	1	0	5	3	3	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:48337742C>T	ENST00000221996.7	+	2	248	c.42C>T	c.(40-42)aaC>aaT	p.N14N	CRX_ENST00000539067.1_Silent_p.N14N|TPRX2P_ENST00000535362.1_Silent_p.N14N	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	14					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		ATTCTGTCAACGCCTTGGCCC	0.587													16	50					0	0	0	0	T	48337742	C	T	48337742	2	4	294	1	0	0	0	0	0	0	0	1	3932	535	19	1		1	CRX	19	48337742	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	474439	48337742	10791241	241	52533											
ZNF114	163071	broad.mit.edu	37	chr19	48785741	48785741	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctggaaaattctaggaaCttggcattcataggtaagga	14	11	11	5	0	2	0	1	0	1	0	2	3	2	3	0	5	2	3	0	5	6	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:48785741C>T	ENST00000595607.1	+	5	617	c.123C>T	c.(121-123)aaC>aaT	p.N41N	ZNF114_ENST00000315849.1_Silent_p.N41N|ZNF114_ENST00000600687.1_Silent_p.N41N|ZNF114_ENST00000597695.1_Silent_p.N7N			Q8NC26	ZN114_HUMAN	zinc finger protein 114	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		ATTCTAGGAACTTGGCATTCA	0.527													13	113					0	0	0	0	T	48785741	C	T	48785741	2	4	294	1	0	0	0	0	0	0	0	1	17811	564	20	4		4	ZNF114	19	48785741	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	447999	48785741	10343242	242	52534											
PPP1R15A	23645	broad.mit.edu	37	chr19	49377451	49377451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaggctttgggggcagctGagaaggatggagaagctgag	11	7	18	5	0	1	3	1	2	0	2	1	6	1	4	0	5	2	4	0	5	3	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:49377451G>A	ENST00000200453.5	+	2	1230	c.961G>A	c.(961-963)Gag>Aag	p.E321K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	321	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGGGGCAGCTGAGAAGGATGG	0.612													14	60					0	0	0	0	A	49377451	G	A	49377451	3	1	294	1	0	0	0	0	1	0	0	0	12439	1291	45	2	963	2	PPP1R15A	19	49377451	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	591710	49377451	9751532	243	52535											
SYT3	84258	broad.mit.edu	37	chr19	51133412	51133412	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctgctgggtgaggggtcGgggcagggctgggtacctgt	4	9	21	7	1	1	1	0	1	1	0	2	1	1	1	1	7	2	4	1	7	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:51133412G>A	ENST00000338916.4	-	3	1324	c.691C>T	c.(691-693)Cga>Tga	p.R231*	SYT3_ENST00000593901.1_Nonsense_Mutation_p.R231*|SYT3_ENST00000600079.1_Nonsense_Mutation_p.R231*|SYT3_ENST00000544769.1_Nonsense_Mutation_p.R231*	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	231						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GTGAGGGGTCGGGGCAGGGCT	0.657													18	16					0	0	0	0	A	51133412	G	A	51133412	4	1	294	1	0	0	0	0	0	1	0	0	15566	1124	39	1	1105	1	SYT3	19	51133412	Nonsense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1755961	51133412	7995571	244	52536											
ZNF615	284370	broad.mit.edu	37	chr19	52496489	52496489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagtatgagtttgctgatGtatactgagagtactcttca	10	15	9	7	0	2	3	1	3	1	1	3	4	3	3	1	0	3	5	1	0	4	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:52496489G>T	ENST00000602063.1	-	6	2189	c.1840C>A	c.(1840-1842)Cat>Aat	p.H614N	ZNF615_ENST00000598071.1_Missense_Mutation_p.H625N|ZNF615_ENST00000391795.3_Missense_Mutation_p.H619N|ZNF615_ENST00000594083.1_Missense_Mutation_p.H625N|ZNF615_ENST00000376716.5_Missense_Mutation_p.H614N			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTTTGCTGATGTATACTGAGA	0.413													13	92					1.5842e-08	2.10201e-08	1	0	T	52496489	G	T	52496489	3	4	294	1	0	0	0	0	1	0	0	0	18135	1377	48	4	359	4	ZNF615	19	52496489	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1363077	52496489	6632494	245	52537											
ZNF528	84436	broad.mit.edu	37	chr19	52919017	52919017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtcatgaatgtgacaaGgtcttcaatcaaattgcaca	16	11	7	7	0	4	2	3	2	1	0	4	2	4	2	0	1	1	1	0	1	5	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:52919017G>T	ENST00000360465.3	+	7	1338	c.912G>T	c.(910-912)aaG>aaT	p.K304N	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AATGTGACAAGGTCTTCAATC	0.383													11	61					3.86212e-05	4.49849e-05	1	0	T	52919017	G	T	52919017	3	4	294	1	0	0	0	0	1	0	0	0	18064	991	35	4	926	4	ZNF528	19	52919017	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	422528	52919017	6209966	246	52538											
NLRP12	91662	broad.mit.edu	37	chr19	54314216	54314216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcttcccgtccgcccagtCcagcatcaccttgtgtgcca	6	9	9	17	2	1	0	1	0	0	0	4	1	4	0	6	0	3	2	6	0	0	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:54314216C>A	ENST00000324134.6	-	3	865	c.697G>T	c.(697-699)Gac>Tac	p.D233Y	NLRP12_ENST00000345770.5_Missense_Mutation_p.D233Y|NLRP12_ENST00000351894.4_Missense_Mutation_p.D233Y|NLRP12_ENST00000391773.1_Missense_Mutation_p.D233Y|NLRP12_ENST00000391775.3_Missense_Mutation_p.D233Y|NLRP12_ENST00000391772.1_Missense_Mutation_p.D233Y|NLRP12_ENST00000535162.1_Missense_Mutation_p.D233Y|NLRP12_ENST00000354278.3_Missense_Mutation_p.D233Y	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	233	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCGCCCAGTCCAGCATCACC	0.582													15	55					1.3612e-06	1.65606e-06	1	0	A	54314216	C	A	54314216	3	1	294	1	0	0	0	0	1	0	0	0	10544	855	30	2	2616	2	NLRP12	19	54314216	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	1395199	54314216	4814767	247	52539											
NLRP12	91662	broad.mit.edu	37	chr19	54314237	54314237	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcaccttgtgtgccaGcatggacttgcctatccctg	7	11	9	14	0	1	0	1	0	0	0	2	1	2	1	4	1	4	2	4	1	1	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:54314237G>C	ENST00000324134.6	-	3	844	c.676C>G	c.(676-678)Ctg>Gtg	p.L226V	NLRP12_ENST00000345770.5_Missense_Mutation_p.L226V|NLRP12_ENST00000351894.4_Missense_Mutation_p.L226V|NLRP12_ENST00000391773.1_Missense_Mutation_p.L226V|NLRP12_ENST00000391775.3_Missense_Mutation_p.L226V|NLRP12_ENST00000391772.1_Missense_Mutation_p.L226V|NLRP12_ENST00000535162.1_Missense_Mutation_p.L226V|NLRP12_ENST00000354278.3_Missense_Mutation_p.L226V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	226	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTGTGTGCCAGCATGGACTTG	0.582													16	68					0	0	0	0	C	54314237	G	C	54314237	3	2	294	1	0	0	0	0	1	0	0	0	10544	962	34	4	2637	4	NLRP12	19	54314237	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	21	54314237	4814746	248	52540											
PRKCG	5582	broad.mit.edu	37	chr19	54403990	54403990	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctgcgggaccccggactAcatagccccggaggtaaccc	8	6	11	16	3	1	0	0	0	1	0	1	3	1	3	5	4	4	1	5	4	3	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:54403990A>G	ENST00000263431.3	+	14	1844	c.1562A>G	c.(1561-1563)tAc>tGc	p.Y521C	PRKCG_ENST00000542049.1_Missense_Mutation_p.Y408C|PRKCG_ENST00000540413.1_Missense_Mutation_p.Y521C	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	521	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACCCCGGACTACATAGCCCCG	0.577													68	265					0	0	0	0	G	54403990	A	G	54403990	3	3	294	1	0	0	0	0	1	0	0	0	12592	391	14	5	1616	5	PRKCG	19	54403990	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	89753	54403990	4724993	249	52541											
TTYH1	57348	broad.mit.edu	37	chr19	54932552	54932552	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaccacacactcagcaccaTtgaccacctggtgaggggcc	11	5	9	16	0	1	2	1	2	0	0	1	2	1	2	5	3	2	1	5	3	1	1	rs141084064	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:54932552T>C	ENST00000301194.4	+	3	529	c.407T>C	c.(406-408)aTt>aCt	p.I136T	TTYH1_ENST00000376531.3_Missense_Mutation_p.I136T|TTYH1_ENST00000376530.3_Missense_Mutation_p.I136T|TTYH1_ENST00000391739.3_Missense_Mutation_p.I185T			Q9H313	TTYH1_HUMAN	tweety family member 1	136					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CTCAGCACCATTGACCACCTG	0.597													6	73					0	0	0	0	C	54932552	T	C	54932552	3	2	294	1	0	0	0	0	1	0	0	0	16835	1493	52	5	417	5	TTYH1	19	54932552	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	528562	54932552	4196431	250	52542											
GP6	51206	broad.mit.edu	37	chr19	55538970	55538970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacaagctccagggggtCgctgggggctgaccacaggt	8	5	16	12	1	0	1	0	1	0	0	2	2	1	1	3	5	1	3	3	5	1	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:55538970C>A	ENST00000310373.3	-	4	613	c.586G>T	c.(586-588)Gac>Tac	p.D196Y	GP6_ENST00000333884.2_Missense_Mutation_p.D196Y|GP6_ENST00000417454.1_Missense_Mutation_p.D196Y|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	196	Ig-like C2-type 2.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TCCAGGGGGTCGCTGGGGGCT	0.587													7	98					1.06961e-07	1.37906e-07	1	0	A	55538970	C	A	55538970	3	1	294	1	0	0	0	0	1	0	0	0	6633	884	31	3	1296	3	GP6	19	55538970	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	606418	55538970	3590013	251	52543											
NLRP8	126205	broad.mit.edu	37	chr19	56485092	56485092	+	Frame_Shift_Del	DEL	C	C	-																															caggcagagtaagatgctgaCccacctgagcttggcagaaa																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:56485092delC	ENST00000291971.3	+	7	2680	c.2609delC	c.(2608-2610)acfs	p.T870fs	NLRP8_ENST00000590542.1_Frame_Shift_Del_p.T851fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	870						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAGATGCTGACCCACCTGAGC	0.507													39	154	---	---	---	---					-	56485092	C	-	56485092	7	5	294	1	0	1	0	1	0	0	0	0	10553	507	18	0	2635	0	NLRP8	19	56485092	Frame_Shift_Del	DEL	C	TCGA-CV-7248-01A-11D-2012-08	946122	56485092	2643891	252	52544											
CSNK2A1	1457	broad.mit.edu	37	chr20	476380	476380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacctttctgtgctcatgatCaatcatgacattatggggct	9	15	8	9	0	4	2	3	2	1	0	4	2	4	2	1	2	2	2	1	2	3	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:476380C>G	ENST00000217244.3	-	8	868	c.493G>C	c.(493-495)Gat>Cat	p.D165H	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D165H|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.D29H|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D165H	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	165	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TGCTCATGATCAATCATGACA	0.428													11	72					0	0	0	0	G	476380	C	G	476380	3	3	294	1	0	0	0	0	1	0	0	0	3989	826	29	2	710	2	CSNK2A1	20	476380	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08		476380	62549140	253	52545											
XRN2	22803	broad.mit.edu	37	chr20	21346226	21346226	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagaaagccagcagcagtActgaaacctagtgactggga	14	6	12	9	0	1	3	1	2	0	1	1	4	1	4	2	1	5	3	2	1	4	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:21346226A>T	ENST00000377191.3	+	26	2435	c.2340A>T	c.(2338-2340)gtA>gtT	p.V780V	XRN2_ENST00000430571.2_Silent_p.V704V|XRN2_ENST00000539513.1_Silent_p.V726V	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	780					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CAGCAGCAGTACTGAAACCTA	0.443													19	68					0	0	0	0	T	21346226	A	T	21346226	2	4	294	1	0	0	0	0	0	0	0	1	17556	378	14	5		5	XRN2	20	21346226	Silent	SNP	A	TCGA-CV-7248-01A-11D-2012-08	20869846	21346226	41679294	254	52546											
TOX2	84969	broad.mit.edu	37	chr20	42695453	42695453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccaccagcagcggggactgGgacagcagctaccccagtgg	9	3	14	15	1	0	0	0	0	0	0	0	2	0	2	4	4	5	3	4	4	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:42695453G>T	ENST00000358131.5	+	7	1594	c.1386G>T	c.(1384-1386)tgG>tgT	p.W462C	TOX2_ENST00000341197.3_Missense_Mutation_p.W480C|TOX2_ENST00000372999.1_Missense_Mutation_p.W438C|TOX2_ENST00000423191.1_Missense_Mutation_p.W438C|TOX2_ENST00000435864.2_Missense_Mutation_p.W358C	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCGGGGACTGGGACAGCAGCT	0.637													38	148					4.67007e-22	7.36433e-22	1	0	T	42695453	G	T	42695453	3	4	294	1	0	0	0	0	1	0	0	0	16473	1241	43	4	1600	4	TOX2	20	42695453	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	21349227	42695453	20330067	255	52547											
FITM2	128486	broad.mit.edu	37	chr20	42935681	42935681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgaccccctccagggctgGggactggtagcagctgcccg	5	7	14	15	1	1	1	0	1	1	0	2	2	2	2	4	4	3	4	4	4	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:42935681G>A	ENST00000396825.3	-	2	393	c.373C>T	c.(373-375)Cca>Tca	p.P125S		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	125					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						TCCAGGGCTGGGGACTGGTAG	0.597													9	56					0	0	0	0	A	42935681	G	A	42935681	3	1	294	1	0	0	0	0	1	0	0	0	5944	1232	43	4	419	4	FITM2	20	42935681	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	240228	42935681	20089839	256	52548											
SYNJ1	8867	broad.mit.edu	37	chr21	34029187	34029187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttcaacttcaaatatatCtatatcaatcagggcaacga	16	11	5	9	1	5	0	4	0	1	0	5	1	5	0	0	1	3	2	0	1	8	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr21:34029187C>T	ENST00000382499.2	-	21	2721	c.2722G>A	c.(2722-2724)Gat>Aat	p.D908N	SYNJ1_ENST00000382491.3_Missense_Mutation_p.D864N|SYNJ1_ENST00000433931.2_Missense_Mutation_p.D908N|SYNJ1_ENST00000357345.3_Missense_Mutation_p.D869N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D869N|SYNJ1_ENST00000464778.1_5'UTR	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	869	Pro-rich.|RRM.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCAAATATATCTATATCAATC	0.343													6	34					0	0	0	0	T	34029187	C	T	34029187	3	4	294	1	0	0	0	0	1	0	0	0	15543	913	32	2	2189	2	SYNJ1	21	34029187	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08		34029187	14100708	257	52549											
PCNT	5116	broad.mit.edu	37	chr21	47773909	47773909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccttcaggttgtcctGtgtgggtttagaagagaaac	8	15	11	7	0	1	2	1	0	0	2	3	3	3	2	2	2	1	2	2	2	3	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr21:47773909G>A	ENST00000359568.5	+	11	1795	c.1688G>A	c.(1687-1689)tGt>tAt	p.C563Y	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	563	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGTTGTCCTGTGTGGGTTTA	0.493													10	22					0	0	0	0	A	47773909	G	A	47773909	3	1	294	1	0	0	0	0	1	0	0	0	11661	1377	48	4	1730	4	PCNT	21	47773909	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	13744722	47773909	355986	258	52550											
DIP2A	23181	broad.mit.edu	37	chr21	47931456	47931456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgcagcgctggggcaCaacacagcccaaatccccct	10	5	8	18	1	0	0	0	0	0	0	1	0	1	0	4	2	4	3	4	2	2	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr21:47931456C>T	ENST00000318711.7	+	8	1217	c.1034C>T	c.(1033-1035)aCa>aTa	p.T345I	DIP2A_ENST00000457905.3_Missense_Mutation_p.T344I|DIP2A_ENST00000466639.1_Missense_Mutation_p.T301I|DIP2A_ENST00000427143.2_Missense_Mutation_p.T280I|DIP2A_ENST00000435722.3_Missense_Mutation_p.T344I|DIP2A_ENST00000400274.1_Missense_Mutation_p.T340I|DIP2A_ENST00000417564.2_Missense_Mutation_p.T344I	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	344					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGCTGGGGCACAACACAGCCC	0.582													6	26					0	0	0	0	T	47931456	C	T	47931456	3	4	294	1	0	0	0	0	1	0	0	0	4564	478	17	4	1061	4	DIP2A	21	47931456	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	157547	47931456	198439	259	52551											
ZNF280A	129025	broad.mit.edu	37	chr22	22868532	22868532	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccggctttttaaatgtttGatggtccttggttttgtgct	4	20	10	7	1	0	1	0	1	0	0	2	1	2	1	2	3	1	4	2	3	2	7			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:22868532G>C	ENST00000302097.3	-	2	1675	c.1423C>G	c.(1423-1425)Caa>Gaa	p.Q475E		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTAAATGTTTGATGGTCCTTG	0.458													27	83					0	0	0	0	C	22868532	G	C	22868532	3	2	294	1	0	0	0	0	1	0	0	0	17909	1299	45	2	209	2	ZNF280A	22	22868532	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08		22868532	28436034	260	52552											
SLC5A1	6523	broad.mit.edu	37	chr22	32479071	32479071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcttagggggcctggcGgcggtgatttacacggacac	6	8	16	11	3	0	1	0	1	0	0	0	2	0	2	2	6	2	1	2	6	2	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:32479071G>A	ENST00000266088.4	+	7	844	c.594G>A	c.(592-594)gcG>gcA	p.A198A	SLC5A1_ENST00000543737.1_Silent_p.A71A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	198					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.A198A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GGGGCCTGGCGGCGGTGATTT	0.572													7	45					0	0	0	0	A	32479071	G	A	32479071	2	1	294	1	0	0	0	0	0	0	0	1	14749	1103	39	1		1	SLC5A1	22	32479071	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	9610539	32479071	18825495	261	52553											
RFPL2	10739	broad.mit.edu	37	chr22	32587270	32587270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctgatgcgcccacttCggacgctcctgaggtcgtca	5	11	11	14	4	3	2	1	2	2	0	6	3	4	3	2	2	1	1	2	2	0	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:32587270C>A	ENST00000400236.3	-	5	1561	c.356G>T	c.(355-357)cGa>cTa	p.R119L	RFPL2_ENST00000400237.1_Missense_Mutation_p.R209L|RFPL2_ENST00000248983.4_Missense_Mutation_p.R119L|RFPL2_ENST00000248980.4_Missense_Mutation_p.R148L|RFPL2_ENST00000489846.1_5'UTR	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	209			A -> T (in dbSNP:rs8135276).				zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GCGCCCACTTCGGACGCTCCT	0.532													24	94					2.21704e-12	3.17827e-12	1	0	A	32587270	C	A	32587270	3	1	294	1	0	0	0	0	1	0	0	0	13336	884	31	3	514	3	RFPL2	22	32587270	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	108199	32587270	18717296	262	52554											
CELSR1	9620	broad.mit.edu	37	chr22	46790128	46790128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtccacagacggggttccCccaccagcctctggggcacg	6	5	14	16	2	1	1	0	0	1	1	3	1	3	1	5	5	1	2	5	5	0	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:46790128C>A	ENST00000262738.3	-	14	5874	c.5875G>T	c.(5875-5877)Ggg>Tgg	p.G1959W		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1959	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGGGGTTCCCCCACCAGCCT	0.572													12	35					7.03913e-09	9.46243e-09	1	0	A	46790128	C	A	46790128	3	1	294	1	0	0	0	0	1	0	0	0	3250	623	22	4	3257	4	CELSR1	22	46790128	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	14202858	46790128	4514438	263	52555											
PIM3	415116	broad.mit.edu	37	chr22	50354606	50354606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcgcccgcgatgctgctctCcaagttcggctccctggcgc	3	9	12	17	5	1	0	0	0	1	0	5	1	2	0	3	2	2	4	3	2	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr22:50354606C>G	ENST00000360612.4	+	1	446	c.11C>G	c.(10-12)tCc>tGc	p.S4C		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	4					cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		ATGCTGCTCTCCAAGTTCGGC	0.796													2	4					0	0	0	0	G	50354606	C	G	50354606	3	3	294	1	0	0	0	0	1	0	0	0	12001	855	30	2	13	2	PIM3	22	50354606	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	3564478	50354606	949960	264	52556											
WWC3	55841	broad.mit.edu	37	chrX	10096607	10096607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcaggatgcggtgaCggtgctcctggccagaacca	7	8	13	13	2	0	2	0	1	0	1	2	3	2	3	4	4	4	2	4	4	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:10096607C>T	ENST00000380861.4	+	17	2682	c.2291C>T	c.(2290-2292)aCg>aTg	p.T764M	WWC3_ENST00000454666.1_Missense_Mutation_p.T764M	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	764										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GATGCGGTGACGGTGCTCCTG	0.667													4	24					0	0	0	0	T	10096607	C	T	10096607	3	4	294	1	0	0	0	0	1	0	0	0	17509	536	19	1	2353	1	WWC3	23	10096607	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08		10096607	145173953	265	52557											
PHKA2	5256	broad.mit.edu	37	chrX	18919705	18919705	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtagggctggatgtggaGgagtggatagggcgcactgg	8	8	21	4	1	0	0	0	0	0	0	0	4	0	4	0	8	0	3	0	8	2	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:18919705G>T	ENST00000379942.4	-	27	3590	c.2925C>A	c.(2923-2925)tcC>tcA	p.S975S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	975					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGGATGTGGAGGAGTGGATAG	0.557													11	41					4.68919e-08	6.08407e-08	1	0	T	18919705	G	T	18919705	2	4	294	1	0	0	0	0	0	0	0	1	11916	987	35	4		4	PHKA2	23	18919705	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	8823098	18919705	136350855	266	52558											
PHEX	5251	broad.mit.edu	37	chrX	22129609	22129609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	attgccaactatttggtgtgGagaatggtttattccagaat	11	15	10	5	0	0	2	0	0	0	2	1	3	1	2	2	3	2	1	2	3	5	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:22129609G>C	ENST00000379374.4	+	10	1669	c.1104G>C	c.(1102-1104)tgG>tgC	p.W368C	PHEX_ENST00000535894.1_Missense_Mutation_p.W271C|PHEX_ENST00000418858.3_Missense_Mutation_p.W71C|PHEX_ENST00000537599.1_Missense_Mutation_p.W368C	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	368					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ATTTGGTGTGGAGAATGGTTT	0.398													42	201					0	0	0	0	C	22129609	G	C	22129609	3	2	294	1	0	0	0	0	1	0	0	0	11891	1183	41	2	1142	2	PHEX	23	22129609	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	3209904	22129609	133140951	267	52559											
NR0B1	190	broad.mit.edu	37	chrX	30327463	30327463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatgctgccctgccactgGtggttctcgcccgccatggc	4	9	13	15	2	1	0	0	0	1	0	2	1	1	1	4	4	3	2	4	4	0	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:30327463G>A	ENST00000378970.4	-	1	252	c.18C>T	c.(16-18)caC>caT	p.H6H	NR0B1_ENST00000453287.1_Silent_p.H6H	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	6	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCTGCCACTGGTGGTTCTCGC	0.662													6	14					0	0	0	0	A	30327463	G	A	30327463	2	1	294	1	0	0	0	0	0	0	0	1	10684	1252	44	4		4	NR0B1	23	30327463	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	8197854	30327463	124943097	268	52560											
FAM47B	170062	broad.mit.edu	37	chrX	34962805	34962805	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagggatggacttacgaCtctgttaagactcctattca	13	11	9	8	1	2	2	1	0	1	2	3	5	3	4	1	2	1	1	1	2	5	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:34962805C>G	ENST00000329357.5	+	1	1893	c.1857C>G	c.(1855-1857)gaC>gaG	p.D619E		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	619										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGACTTACGACTCTGTTAAGA	0.403													29	162					0	0	0	0	G	34962805	C	G	34962805	3	3	294	1	0	0	0	0	1	0	0	0	5617	564	20	4	1859	4	FAM47B	23	34962805	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	4635342	34962805	120307755	269	52561											
CXorf22	170063	broad.mit.edu	37	chrX	35990013	35990013	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacttaaatcagaaccaTccactccacaagaaaaacat	20	6	4	11	0	1	2	1	0	0	2	3	3	3	3	3	1	2	0	3	1	7	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:35990013T>C	ENST00000297866.5	+	13	2251	c.2185T>C	c.(2185-2187)Tcc>Ccc	p.S729P		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	729										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATCAGAACCATCCACTCCACA	0.323													3	12					0	0	0	0	C	35990013	T	C	35990013	3	2	294	1	0	0	0	0	1	0	0	0	4134	1435	50	5	2235	5	CXorf22	23	35990013	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	1027208	35990013	119280547	270	52562											
FAM47C	442444	broad.mit.edu	37	chrX	37026701	37026701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatacgcttgtttgtcgccGtgacgagtttttactcccca	7	14	9	11	4	0	2	0	1	0	1	2	3	1	2	3	0	2	3	3	0	2	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:37026701G>T	ENST00000358047.3	+	1	270	c.218G>T	c.(217-219)cGt>cTt	p.R73L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	73										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTTTGTCGCCGTGACGAGTTT	0.527													23	80					1.22574e-08	1.63698e-08	1	0	T	37026701	G	T	37026701	3	4	294	1	0	0	0	0	1	0	0	0	5618	1145	40	3	220	3	FAM47C	23	37026701	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1036688	37026701	118243859	271	52563											
USP9X	8239	broad.mit.edu	37	chrX	41031206	41031206	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacttatgaaacttatgcCgccaggtaagaatttttaaa	15	13	7	6	1	0	2	0	1	0	1	0	2	0	2	2	1	3	2	2	1	8	7			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:41031206C>G	ENST00000324545.7	+	21	3776	c.3143C>G	c.(3142-3144)cCg>cGg	p.P1048R	USP9X_ENST00000378308.2_Missense_Mutation_p.P1048R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1048					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAACTTATGCCGCCAGGTAAG	0.388													8	68					0	0	0	0	G	41031206	C	G	41031206	3	3	294	1	0	0	0	0	1	0	0	0	17186	652	23	3	3221	3	USP9X	23	41031206	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	4004505	41031206	114239354	272	52564											
ZNF157	7712	broad.mit.edu	37	chrX	47272115	47272115	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atcagaaaactcacacagggGagaggccctttgaatgtaat	15	8	10	8	0	2	3	2	1	0	2	2	4	2	3	1	3	1	1	1	3	4	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:47272115G>C	ENST00000377073.3	+	4	729	c.643G>C	c.(643-645)Gag>Cag	p.E215Q		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	215					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TCACACAGGGGAGAGGCCCTT	0.443													13	38					0	0	0	0	C	47272115	G	C	47272115	3	2	294	1	0	0	0	0	1	0	0	0	17832	1175	41	2	657	2	ZNF157	23	47272115	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	6240909	47272115	107998445	273	52565											
UXT	8409	broad.mit.edu	37	chrX	47516687	47516687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catagatgcgtgaagtatctGggctgaggaaagagaggtta	13	9	15	4	1	1	4	0	2	1	2	1	6	1	5	0	3	1	3	0	3	5	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:47516687G>A	ENST00000335890.2	-	4	440	c.287C>T	c.(286-288)cCa>cTa	p.P96L	UXT_ENST00000333119.3_Missense_Mutation_p.P84L|UXT_ENST00000460840.1_5'UTR	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	84					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						TGAAGTATCTGGGCTGAGGAA	0.478													6	14					0	0	0	0	A	47516687	G	A	47516687	3	1	294	1	0	0	0	0	1	0	0	0	17206	1348	47	4	234	4	UXT	23	47516687	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	244572	47516687	107753873	274	52566											
ZNF182	7569	broad.mit.edu	37	chrX	47836067	47836067	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacctctctgatgcagcatGaggtaggacttctgagagaa	11	10	12	8	0	2	5	0	4	2	1	3	7	2	6	1	2	2	3	1	2	2	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:47836067G>C	ENST00000396965.1	-	7	1769	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L	ZNF182_ENST00000376943.3_Silent_p.L454L|ZNF182_ENST00000305127.6_Silent_p.L473L	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GATGCAGCATGAGGTAGGACT	0.393													9	59					0	0	0	0	C	47836067	G	C	47836067	2	2	294	1	0	0	0	0	0	0	0	1	17845	1277	45	2		2	ZNF182	23	47836067	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	319380	47836067	107434493	275	52567											
TBC1D25	4943	broad.mit.edu	37	chrX	48418232	48418232	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggatggcccacatctacgGgcgctgcacgacctgctcac	8	6	12	15	3	2	0	1	0	1	0	2	3	2	1	2	3	3	3	2	3	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:48418232G>A	ENST00000376771.4	+	6	1277	c.936G>A	c.(934-936)cgG>cgA	p.R312R	TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000537536.1_Silent_p.R58R|TBC1D25_ENST00000427713.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	312	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CACATCTACGGGCGCTGCACG	0.622													9	37					0	0	0	0	A	48418232	G	A	48418232	2	1	294	1	0	0	0	0	0	0	0	1	15706	1219	43	4		4	TBC1D25	23	48418232	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	582165	48418232	106852328	276	52568											
HDAC6	10013	broad.mit.edu	37	chrX	48681334	48681334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttccagaggtagaagacaGagaaggaccctccagttcta	13	7	12	9	0	1	4	0	0	1	4	3	6	3	5	3	3	0	3	3	3	4	4			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:48681334G>T	ENST00000334136.5	+	25	2703	c.2525G>T	c.(2524-2526)aGa>aTa	p.R842I	HDAC6_ENST00000444343.2_Missense_Mutation_p.R856I|HDAC6_ENST00000376619.2_Missense_Mutation_p.R842I			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	842					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTAGAAGACAGAGAAGGACCC	0.562													5	48					1.23904e-05	1.464e-05	1	0	T	48681334	G	T	48681334	3	4	294	1	0	0	0	0	1	0	0	0	7061	942	33	2	2619	2	HDAC6	23	48681334	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	263102	48681334	106589226	277	52569											
MAGIX	79917	broad.mit.edu	37	chrX	49021378	49021378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggacactccgctggccGtgcgcgggctgctgaaggat	5	7	17	12	4	0	1	0	1	0	0	1	3	1	3	2	5	2	3	2	5	1	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:49021378G>T	ENST00000376338.3	+	2	359	c.280G>T	c.(280-282)Gtg>Ttg	p.V94L	MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000412696.2_Missense_Mutation_p.V153L|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.V94L			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	153																	TCCGCTGGCCGTGCGCGGGCT	0.632													27	96					6.32553e-13	9.22942e-13	1	0	T	49021378	G	T	49021378	3	4	294	1	0	0	0	0	1	0	0	0	9262	1145	40	3	511	3	MAGIX	23	49021378	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	340044	49021378	106249182	278	52570											
CACNA1F	778	broad.mit.edu	37	chrX	49065125	49065125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggagccccggcgagctgagGgctgggagaccatcgtggcc	6	4	18	13	4	0	2	0	1	0	1	1	5	0	3	4	5	2	2	4	5	0	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:49065125G>T	ENST00000376265.2	-	43	5067	c.5006C>A	c.(5005-5007)cCc>cAc	p.P1669H	CACNA1F_ENST00000323022.5_Missense_Mutation_p.P1658H|CACNA1F_ENST00000376251.1_Missense_Mutation_p.P1604H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1669					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCGAGCTGAGGGCTGGGAGAC	0.562													12	65					4.36969e-10	6.03223e-10	1	0	T	49065125	G	T	49065125	3	4	294	1	0	0	0	0	1	0	0	0	2568	1232	43	4	951	4	CACNA1F	23	49065125	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	43747	49065125	106205435	279	52571											
AKAP4	8852	broad.mit.edu	37	chrX	49961630	49961630	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttaagttgccttctgagctgGaactagcagcatcctatgga	10	12	10	9	0	1	1	0	1	1	0	2	3	2	3	2	2	5	4	2	2	4	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:49961630G>C	ENST00000376056.2	-	4	311	c.161C>G	c.(160-162)tCc>tGc	p.S54C	AKAP4_ENST00000358526.2_Missense_Mutation_p.S63C|AKAP4_ENST00000376058.2_Missense_Mutation_p.S54C|AKAP4_ENST00000376064.3_Missense_Mutation_p.S54C|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	63					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTCTGAGCTGGAACTAGCAGC	0.418													15	63					0	0	0	0	C	49961630	G	C	49961630	3	2	294	1	0	0	0	0	1	0	0	0	453	1174	41	2	2388	2	AKAP4	23	49961630	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	896505	49961630	105308930	280	52572											
SHROOM4	57477	broad.mit.edu	37	chrX	50376870	50376870	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgccacaagtggctGtgaattatgctctggagacc	8	10	13	10	0	1	2	0	1	1	1	1	3	1	2	2	3	3	4	2	3	3	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:50376870G>C	ENST00000376020.2	-	4	2228	c.2203C>G	c.(2203-2205)Cag>Gag	p.Q735E	SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q619E|SHROOM4_ENST00000289292.7_Missense_Mutation_p.Q735E	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	735					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.Q735*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ACAAGTGGCTGTGAATTATGC	0.542													14	54					0	0	0	0	C	50376870	G	C	50376870	3	2	294	1	0	0	0	0	1	0	0	0	14384	1386	48	4	2302	4	SHROOM4	23	50376870	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	415240	50376870	104893690	281	52573											
GNL3L	54552	broad.mit.edu	37	chrX	54577458	54577458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcagccgcgcatgcagcGtgggagctgttcctggaatt	7	8	15	11	4	0	0	0	0	0	0	1	2	1	2	2	2	5	5	2	2	1	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:54577458G>T	ENST00000336470.4	+	10	977	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	GNL3L_ENST00000360845.2_Missense_Mutation_p.V280L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	280	G.				ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						CGCATGCAGCGTGGGAGCTGT	0.557													7	44					5.18039e-06	6.22862e-06	1	0	T	54577458	G	T	54577458	3	4	294	1	0	0	0	0	1	0	0	0	6589	1145	40	3	872	3	GNL3L	23	54577458	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	4200588	54577458	100693102	282	52574											
USP51	158880	broad.mit.edu	37	chrX	55513447	55513447	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttattctcattgggcacAcaatctgttggtggctggcc	7	14	10	10	0	2	0	1	0	2	0	3	0	2	0	1	4	1	3	1	4	3	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:55513447A>T	ENST00000500968.3	-	2	2008	c.1926T>A	c.(1924-1926)tgT>tgA	p.C642*	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	642					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CATTGGGCACACAATCTGTTG	0.443													3	32					0	0	0	0	T	55513447	A	T	55513447	4	4	294	1	0	0	0	0	0	1	0	0	17179	157	6	5	213	5	USP51	23	55513447	Nonsense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	935989	55513447	99757113	283	52575											
RRAGB	10325	broad.mit.edu	37	chrX	55784705	55784705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctactctgatcaacatcCgcaatgccaggaaacacttt	13	9	6	13	1	2	1	1	1	1	0	3	2	3	2	2	1	5	2	2	1	4	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:55784705C>A	ENST00000374941.4	+	10	1559	c.970C>A	c.(970-972)Cgc>Agc	p.R324S	RRAGB_ENST00000262850.7_Missense_Mutation_p.R352S	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	352					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GATCAACATCCGCAATGCCAG	0.443													9	38					0.000442599	0.000497166	1	0	A	55784705	C	A	55784705	3	1	294	1	0	0	0	0	1	0	0	0	13758	652	23	3	1096	3	RRAGB	23	55784705	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	271258	55784705	99485855	284	52576											
HEPH	9843	broad.mit.edu	37	chrX	65486459	65486459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgacagagaaagctacgacGcaataggaggtccatcctgg	13	6	12	10	3	0	1	0	0	0	1	3	5	2	2	2	3	2	2	2	3	4	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:65486459G>T	ENST00000519389.1	+	21	3763	c.3584G>T	c.(3583-3585)cGc>cTc	p.R1195L	HEPH_ENST00000374727.3_Missense_Mutation_p.R1144L|HEPH_ENST00000336279.5_Missense_Mutation_p.R874L|HEPH_ENST00000343002.2_Missense_Mutation_p.R1141L|HEPH_ENST00000419594.1_Missense_Mutation_p.R952L|HEPH_ENST00000441993.2_Missense_Mutation_p.R1143L			Q9BQS7	HEPH_HUMAN	hephaestin	1141					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAGCTACGACGCAATAGGAGG	0.493													16	46					4.14922e-12	5.88643e-12	1	0	T	65486459	G	T	65486459	3	4	294	1	0	0	0	0	1	0	0	0	7104	1087	38	3	3666	3	HEPH	23	65486459	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	9701754	65486459	89784101	285	52577											
STARD8	9754	broad.mit.edu	37	chrX	67942409	67942409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagaatatccaggaccTgctgcgtgatgctgctgagc	10	8	14	9	1	0	3	0	2	0	1	1	6	1	5	2	2	5	3	2	2	3	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:67942409T>C	ENST00000252336.6	+	11	2852	c.2480T>C	c.(2479-2481)cTg>cCg	p.L827P	STARD8_ENST00000374599.3_Missense_Mutation_p.L907P|STARD8_ENST00000374597.3_Missense_Mutation_p.L827P	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	827	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATCCAGGACCTGCTGCGTGAT	0.647													9	39					0	0	0	0	C	67942409	T	C	67942409	3	2	294	1	0	0	0	0	1	0	0	0	15353	1580	55	5	2766	5	STARD8	23	67942409	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	2455950	67942409	87328151	286	52578											
SNX12	29934	broad.mit.edu	37	chrX	70282792	70282792	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttagcttgaagataggtAggtttgtctacatggaagga	11	13	12	5	0	1	2	0	1	1	1	1	4	1	4	1	4	2	3	1	4	6	7			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70282792A>T	ENST00000374274.3	-	2	289	c.173T>A	c.(172-174)cTa>cAa	p.L58Q	SNX12_ENST00000276105.3_Missense_Mutation_p.L54Q|SNX12_ENST00000465030.1_5'UTR	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	58	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					GAAGATAGGTAGGTTTGTCTA	0.453													5	21					0	0	0	0	T	70282792	A	T	70282792	3	4	294	1	0	0	0	0	1	0	0	0	14971	420	15	5	327	5	SNX12	23	70282792	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	2340383	70282792	84987768	287	52579											
MED12	9968	broad.mit.edu	37	chrX	70338650	70338650	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgaacaccggcccctgaagCggccgcggctggggcctccc	6	3	14	18	5	0	1	0	1	0	0	1	2	1	1	6	5	2	1	6	5	2	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70338650C>G	ENST00000333646.6	+	1	245	c.46C>G	c.(46-48)Cgg>Ggg	p.R16G	MED12_ENST00000374102.1_Missense_Mutation_p.R16G|MED12_ENST00000374080.3_Missense_Mutation_p.R16G	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	16				R -> RPR (in Ref. 1; AAD22033).	androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCCCCTGAAGCGGCCGCGGCT	0.682			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	26					0	0	0	0	G	70338650	C	G	70338650	3	3	294	1	0	0	0	0	1	0	0	0	9497	759	27	3	48	3	MED12	23	70338650	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	55858	70338650	84931910	288	52580											
ITGB1BP2	26548	broad.mit.edu	37	chrX	70523356	70523356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttccagctgccagaacccagGatgtgatgctgtgagtgaga	10	9	13	9	0	0	4	0	3	0	2	1	6	1	5	3	1	4	2	3	1	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70523356G>A	ENST00000538820.1	+	5	744	c.404G>A	c.(403-405)gGa>gAa	p.G135E	ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.G153E			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	153					muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CAGAACCCAGGATGTGATGCT	0.512													19	89					0	0	0	0	A	70523356	G	A	70523356	3	1	294	1	0	0	0	0	1	0	0	0	7945	1174	41	2	480	2	ITGB1BP2	23	70523356	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	184706	70523356	84747204	289	52581											
TAF1	6872	broad.mit.edu	37	chrX	70614023	70614023	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaacatgttgcagaacAagaaaaccagctctcagctt	15	9	8	9	0	1	3	1	1	1	3	2	4	1	3	1	0	6	4	1	0	5	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70614023A>G	ENST00000449580.1	+	22	3382	c.3331A>G	c.(3331-3333)Aag>Gag	p.K1111E	TAF1_ENST00000276072.3_Missense_Mutation_p.K1132E|TAF1_ENST00000373790.4_Missense_Mutation_p.K1111E|TAF1_ENST00000423759.1_Missense_Mutation_p.K1132E			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1111					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTTGCAGAACAAGAAAACCAG	0.458													13	51					0	0	0	0	G	70614023	A	G	70614023	3	3	294	1	0	0	0	0	1	0	0	0	15604	131	5	5	3480	5	TAF1	23	70614023	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	90667	70614023	84656537	290	52582											
CDX4	1046	broad.mit.edu	37	chrX	72667341	72667341	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccgcgagaagactggagCgtgtatcctgggccgtctag	7	7	14	13	4	1	2	0	0	1	2	2	4	2	3	4	2	1	1	4	2	3	2	rs146093321		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:72667341C>T	ENST00000373514.2	+	1	252	c.252C>T	c.(250-252)agC>agT	p.S84S		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	84						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AAGACTGGAGCGTGTATCCTG	0.607													8	57					0	0	0	0	T	72667341	C	T	72667341	2	4	294	1	0	0	0	0	0	0	0	1	3213	767	27	1		1	CDX4	23	72667341	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	2053318	72667341	82603219	291	52583											
KIAA2022	340533	broad.mit.edu	37	chrX	73962135	73962135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaattagcctttgaggattGgttttccaagagagggctca	11	13	11	6	0	1	2	1	1	0	1	2	4	2	3	2	3	1	2	2	3	4	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:73962135G>T	ENST00000373468.1	-	3	2908	c.2257C>A	c.(2257-2259)Caa>Aaa	p.Q753K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.Q753K			Q5QGS0	K2022_HUMAN	KIAA2022	753					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTGAGGATTGGTTTTCCAAG	0.388													14	80					4.3838e-07	5.47975e-07	1	0	T	73962135	G	T	73962135	3	4	294	1	0	0	0	0	1	0	0	0	8320	1357	47	4	2301	4	KIAA2022	23	73962135	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1294794	73962135	81308425	292	52584											
ABCB7	22	broad.mit.edu	37	chrX	74282246	74282246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaatggctcttgcaattgCtactctttgcttttctcctc	7	17	5	12	0	3	0	0	0	3	0	5	0	3	0	1	1	4	4	1	1	4	6			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:74282246C>T	ENST00000253577.3	-	14	1879	c.1855G>A	c.(1855-1857)Gca>Aca	p.A619T	ABCB7_ENST00000373394.3_Missense_Mutation_p.A618T|ABCB7_ENST00000339447.4_Missense_Mutation_p.A578T	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	618	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CTTGCAATTGCTACTCTTTGC	0.353													8	49					0	0	0	0	T	74282246	C	T	74282246	3	4	294	1	0	0	0	0	1	0	0	0	46	797	28	4	418	4	ABCB7	23	74282246	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	320111	74282246	80988314	293	52585											
UPRT	139596	broad.mit.edu	37	chrX	74494242	74494242	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagggccaaggtgattctCctcacggggtacgcccattc	7	9	11	14	2	2	1	1	1	1	0	5	1	3	1	4	4	1	1	4	4	2	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:74494242C>A	ENST00000373379.1	+	1	318	c.153C>A	c.(151-153)ctC>ctA	p.L51L	UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000373383.4_Silent_p.L51L			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	51					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGGTGATTCTCCTCACGGGGT	0.632													6	32					5.9392e-07	7.37901e-07	1	0	A	74494242	C	A	74494242	2	1	294	1	0	0	0	0	0	0	0	1	17110	842	30	2		2	UPRT	23	74494242	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	211996	74494242	80776318	294	52586											
MAGEE1	57692	broad.mit.edu	37	chrX	75650773	75650773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctatactctgtacaaccGaagggagatggaagaaactg	14	8	10	9	1	1	2	0	0	1	2	2	5	2	3	2	2	4	1	2	2	7	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:75650773G>T	ENST00000361470.2	+	1	2728	c.2450G>T	c.(2449-2451)cGa>cTa	p.R817L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	817	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGTACAACCGAAGGGAGATG	0.488													10	52					6.40141e-05	7.39318e-05	1	0	T	75650773	G	T	75650773	3	4	294	1	0	0	0	0	1	0	0	0	9254	1058	37	3	2452	3	MAGEE1	23	75650773	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1156531	75650773	79619787	295	52587											
ATRX	546	broad.mit.edu	37	chrX	76944409	76944409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcagctcacaatcccatGaagcccatcttctaggagaa	13	8	8	12	0	3	2	1	1	2	1	4	3	4	2	2	1	3	2	2	1	4	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:76944409G>T	ENST00000373344.5	-	7	710	c.496C>A	c.(496-498)Cat>Aat	p.H166N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.H128N	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	166	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.H166fs*4(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACAATCCCATGAAGCCCATCT	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						12	98					1.5842e-08	2.10201e-08	1	0	T	76944409	G	T	76944409	3	4	294	1	0	0	0	0	1	0	0	0	1212	1290	45	2	7098	2	ATRX	23	76944409	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1293636	76944409	78326151	296	52588											
PCDH11X	27328	broad.mit.edu	37	chrX	91090898	91090898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgttttctgatagaagataTaaatgataatgcaccattgt	15	14	7	5	1	1	4	0	2	1	2	1	4	1	4	1	0	1	2	1	0	6	7			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:91090898T>C	ENST00000373094.1	+	1	1240	c.395T>C	c.(394-396)aTa>aCa	p.I132T	PCDH11X_ENST00000361655.2_Missense_Mutation_p.I132T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.I132T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.I132T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.I132T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	132	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATAGAAGATATAAATGATAAT	0.388													13	51					0	0	0	0	C	91090898	T	C	91090898	3	2	294	1	0	0	0	0	1	0	0	0	11579	1406	49	5	397	5	PCDH11X	23	91090898	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	14146489	91090898	64179662	297	52589											
DRP2	1821	broad.mit.edu	37	chrX	100510189	100510189	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaggcttgctgagatggaaAgtcaaaattgctccttcttt	10	14	9	8	0	2	1	1	1	1	1	3	3	3	2	1	2	2	3	1	2	4	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:100510189A>T	ENST00000395209.3	+	20	2724	c.2197A>T	c.(2197-2199)Agt>Tgt	p.S733C	DRP2_ENST00000541709.1_Missense_Mutation_p.S655C|DRP2_ENST00000538510.1_Missense_Mutation_p.S733C|DRP2_ENST00000402866.1_Missense_Mutation_p.S733C	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	733					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGAGATGGAAAGTCAAAATTG	0.453													19	111					0	0	0	0	T	100510189	A	T	100510189	3	4	294	1	0	0	0	0	1	0	0	0	4800	72	3	5	2267	5	DRP2	23	100510189	Missense_Mutation	SNP	A	TCGA-CV-7248-01A-11D-2012-08	9419291	100510189	54760371	298	52590											
GPRASP2	114928	broad.mit.edu	37	chrX	101970137	101970137	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcgttctaaaactgatGccaaggcaatccctggagca	11	8	10	12	2	1	1	0	1	1	0	3	2	2	2	2	2	3	4	2	2	4	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:101970137G>C	ENST00000543253.1	+	5	1259	c.340G>C	c.(340-342)Gcc>Ccc	p.A114P	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A114P|GPRASP2_ENST00000535209.1_Missense_Mutation_p.A114P	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TAAAACTGATGCCAAGGCAAT	0.577													38	188					0	0	0	0	C	101970137	G	C	101970137	3	2	294	1	0	0	0	0	1	0	0	0	6773	1319	46	4	342	4	GPRASP2	23	101970137	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1459948	101970137	53300423	299	52591											
MORC4	79710	broad.mit.edu	37	chrX	106200165	106200165	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatctcatgtatactcaaCtgtttcttagctttgctcaa	9	16	4	12	0	4	0	3	0	2	0	5	0	4	0	1	0	4	4	1	0	5	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:106200165C>G	ENST00000355610.4	-	12	1729		c.e12+1		MORC4_ENST00000255495.7_Splice_Site|MORC4_ENST00000535534.1_Splice_Site	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4								ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GTATACTCAACTGTTTCTTAG	0.428													7	112					0	0	0	0	G	106200165	C	G	106200165	5	3	294	1	0	0	0	0	0	0	1	0	9774	579	20	4	1382	4	MORC4	23	106200165	Splice_Site	SNP	C	TCGA-CV-7248-01A-11D-2012-08	4230028	106200165	49070395	300	52592											
TEX13B	56156	broad.mit.edu	37	chrX	107224687	107224687	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaccagcagcagccaccgCctccttttcctgctcacctg	7	8	7	19	1	1	0	1	0	0	0	3	0	3	0	7	0	5	4	7	0	0	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:107224687C>G	ENST00000302917.1	-	3	654	c.562G>C	c.(562-564)Gcg>Ccg	p.A188P		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	188										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GCAGCCACCGCCTCCTTTTCC	0.652													47	284					0	0	0	0	G	107224687	C	G	107224687	3	3	294	1	0	0	0	0	1	0	0	0	15871	739	26	4	380	4	TEX13B	23	107224687	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	1024522	107224687	48045873	301	52593											
IRS4	8471	broad.mit.edu	37	chrX	107978562	107978562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctgtagctgcggcagcggGctctgtattcgtctgcacac	5	11	13	12	3	2	0	0	0	2	0	3	0	2	0	0	2	5	7	0	2	2	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:107978562G>T	ENST00000372129.2	-	1	1089	c.1013C>A	c.(1012-1014)gCc>gAc	p.A338D		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	338						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCGGCAGCGGGCTCTGTATTC	0.597													47	275					4.21674e-32	6.86056e-32	1	0	T	107978562	G	T	107978562	3	4	294	1	0	0	0	0	1	0	0	0	7895	1203	42	4	2764	4	IRS4	23	107978562	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	753875	107978562	47291998	302	52594											
RGAG1	57529	broad.mit.edu	37	chrX	109695144	109695144	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaaagacagttccagcCtctggagccatgaccacctc	11	8	8	14	0	1	2	0	1	1	1	3	3	2	3	5	1	3	2	5	1	2	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:109695144C>G	ENST00000465301.2	+	3	1545	c.1299C>G	c.(1297-1299)gcC>gcG	p.A433A	RGAG1_ENST00000540313.1_Silent_p.A433A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	433										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAGTTCCAGCCTCTGGAGCCA	0.512													34	227					0	0	0	0	G	109695144	C	G	109695144	2	3	294	1	0	0	0	0	0	0	0	1	13356	668	24	4		4	RGAG1	23	109695144	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	1716582	109695144	45575416	303	52595											
AGTR2	186	broad.mit.edu	37	chrX	115303582	115303582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagcaaaaacattaccagcGgtcttcacttcgggcttgtg	10	11	9	11	2	2	0	1	0	1	0	3	0	2	0	1	2	4	2	1	2	4	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:115303582G>T	ENST00000371906.4	+	3	239	c.49G>T	c.(49-51)Ggt>Tgt	p.G17C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	17					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CATTACCAGCGGTCTTCACTT	0.423													19	60					2.94398e-08	3.85634e-08	1	0	T	115303582	G	T	115303582	3	4	294	1	0	0	0	0	1	0	0	0	402	1116	39	3	51	3	AGTR2	23	115303582	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	5608438	115303582	39966978	304	52596											
CXorf61	203413	broad.mit.edu	37	chrX	115593060	115593060	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattatttaaaatatcccGagagaggtcgtagactgcaa	16	10	9	6	2	0	2	0	0	0	2	2	5	1	2	1	1	1	2	1	1	7	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:115593060G>T	ENST00000371894.4	-	2	336	c.190C>A	c.(190-192)Cgg>Agg	p.R64R		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	64						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						AAAATATCCCGAGAGAGGTCG	0.408													10	102					3.86212e-05	4.49849e-05	1	0	T	115593060	G	T	115593060	2	4	294	1	0	0	0	0	0	0	0	1	4148	1057	37	3		3	CXorf61	23	115593060	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	289478	115593060	39677500	305	52597											
IL13RA1	3597	broad.mit.edu	37	chrX	117880977	117880977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgagaggatttgtctgCaagtggggtcccagtgtagc	9	11	15	6	0	1	2	0	2	1	1	2	4	2	3	1	3	2	2	1	3	3	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:117880977C>A	ENST00000371666.3	+	3	356	c.289C>A	c.(289-291)Caa>Aaa	p.Q97K	IL13RA1_ENST00000371642.1_Missense_Mutation_p.Q97K	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	97						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						GATTTGTCTGCAAGTGGGGTC	0.438													16	85					1.15088e-07	1.47456e-07	1	0	A	117880977	C	A	117880977	3	1	294	1	0	0	0	0	1	0	0	0	7682	711	25	4	299	4	IL13RA1	23	117880977	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	2287917	117880977	37389583	306	52598											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959998	117959998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgctgactgcaatgtgaTagagatagatgataccctcg	12	10	11	8	1	0	5	0	3	0	2	1	6	0	5	1	0	3	2	1	0	4	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:117959998T>C	ENST00000310164.2	+	4	1298	c.791T>C	c.(790-792)aTa>aCa	p.I264T		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TGCAATGTGATAGAGATAGAT	0.567													12	82					0	0	0	0	C	117959998	T	C	117959998	3	2	294	1	0	0	0	0	1	0	0	0	17676	1406	49	5	793	5	ZCCHC12	23	117959998	Missense_Mutation	SNP	T	TCGA-CV-7248-01A-11D-2012-08	79021	117959998	37310562	307	52599											
ZBTB33	10009	broad.mit.edu	37	chrX	119389152	119389152	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaaagaacctccagtaGggaccactacatctactcag	14	7	8	12	0	2	1	1	0	1	1	3	3	3	3	3	2	3	1	3	2	6	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:119389152G>C	ENST00000326624.2	+	2	2110	c.1882G>C	c.(1882-1884)Ggg>Cgg	p.G628R	ZBTB33_ENST00000557385.1_Missense_Mutation_p.G628R	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	628	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACCTCCAGTAGGGACCACTAC	0.383													13	88					0	0	0	0	C	119389152	G	C	119389152	3	2	294	1	0	0	0	0	1	0	0	0	17631	1000	35	4	1884	4	ZBTB33	23	119389152	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1429154	119389152	35881408	308	52600											
CUL4B	8450	broad.mit.edu	37	chrX	119694442	119694442	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtggcagatctgacctcctGagcagcagcagcagctgagg	10	6	14	11	0	1	4	0	3	1	1	2	4	2	4	2	2	5	6	2	2	0	0			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:119694442G>A	ENST00000371322.5	-	1	113	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	CUL4B_ENST00000336592.6_Nonsense_Mutation_p.Q23*|CUL4B_ENST00000404115.3_Nonsense_Mutation_p.Q36*	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	36	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGACCTCCTGAGCAGCAGCA	0.507													5	16					0	0	0	0	A	119694442	G	A	119694442	4	1	294	1	0	0	0	0	0	1	0	0	4090	1299	45	2	2715	2	CUL4B	23	119694442	Nonsense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	305290	119694442	35576118	309	52601											
STAG2	10735	broad.mit.edu	37	chrX	123181323	123181323	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaaacgagccaatgagAggctagaactcctgctacaa	15	7	10	9	1	0	2	0	1	0	2	1	5	1	3	2	2	5	2	2	2	7	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:123181323A>C	ENST00000371160.1	+	9	1077	c.787A>C	c.(787-789)Agg>Cgg	p.R263R	STAG2_ENST00000218089.9_Silent_p.R263R|STAG2_ENST00000371145.3_Silent_p.R263R|STAG2_ENST00000371157.3_Silent_p.R263R|STAG2_ENST00000371144.3_Silent_p.R263R|STAG2_ENST00000354548.5_Silent_p.R194R|STAG2_ENST00000469481.1_Intron			Q8N3U4	STAG2_HUMAN	stromal antigen 2	263					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGCCAATGAGAGGCTAGAACT	0.348													10	55					0	0	0	0	C	123181323	A	C	123181323	2	2	294	1	0	0	0	0	0	0	0	1	15333	295	11	5		5	STAG2	23	123181323	Silent	SNP	A	TCGA-CV-7248-01A-11D-2012-08	3486881	123181323	32089237	310	52602											
SH2D1A	4068	broad.mit.edu	37	chrX	123480493	123480493	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagagtccaccaggccAtggacgcagtggctgtgtat	9	7	13	12	1	0	1	0	0	0	1	1	2	1	2	4	3	0	3	4	3	2	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:123480493A>G	ENST00000371139.4	+	1	300	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SH2D1A_ENST00000360027.4_Start_Codon_SNP_p.M1V|SH2D1A_ENST00000470647.1_3'UTR|STAG2_ENST00000469481.1_Intron	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	1					cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCACCAGGCCATGGACGCAGT	0.592													14	100					0	0	0	0	G	123480493	A	G	123480493	1	3	294	1	0	0	0	0	0	0	0	0	14317	217	8	5		5	SH2D1A	23	123480493	Translation_Start_Site	SNP	A	TCGA-CV-7248-01A-11D-2012-08	299170	123480493	31790067	311	52603											
ACTRT1	139741	broad.mit.edu	37	chrX	127185945	127185945	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctccatgtcatcccatcCtgttaccagtccacgctcaa	8	13	4	16	1	3	0	2	0	1	0	7	0	6	0	5	0	1	2	5	0	2	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:127185945C>A	ENST00000371124.3	-	1	437	c.241G>T	c.(241-243)Gga>Tga	p.G81*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	81						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCATCCCATCCTGTTACCAGT	0.483													57	243					1.0442e-30	1.69218e-30	1	0	A	127185945	C	A	127185945	4	1	294	1	0	0	0	0	0	1	0	0	218	690	24	4	893	4	ACTRT1	23	127185945	Nonsense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	3705452	127185945	28084615	312	52604											
MOSPD1	56180	broad.mit.edu	37	chrX	134033180	134033180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacgacaacatacttatttGgagtagtacacaaaactgaa	18	9	6	8	1	0	1	0	1	0	0	0	3	0	2	0	1	5	2	0	1	9	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:134033180G>T	ENST00000370783.3	-	3	356	c.170C>A	c.(169-171)cCa>cAa	p.P57Q	MOSPD1_ENST00000370777.1_Missense_Mutation_p.P57Q|MOSPD1_ENST00000370779.4_Missense_Mutation_p.P57Q|MOSPD1_ENST00000491609.1_Intron	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	57	MSP.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					ATACTTATTTGGAGTAGTACA	0.343													30	119					3.65163e-15	5.48413e-15	1	0	T	134033180	G	T	134033180	3	4	294	1	0	0	0	0	1	0	0	0	9785	1348	47	4	487	4	MOSPD1	23	134033180	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	6847235	134033180	21237380	313	52605											
FHL1	2273	broad.mit.edu	37	chrX	135288651	135288651	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaggggaagaagtatgtGcaaaaggatggccaccactg	13	7	14	7	0	0	1	0	0	0	1	0	3	0	3	2	4	2	3	2	4	5	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:135288651G>C	ENST00000543669.1	+	2	771	c.60G>C	c.(58-60)gtG>gtC	p.V20V	FHL1_ENST00000394155.2_Silent_p.V20V|FHL1_ENST00000345434.3_Silent_p.V20V|FHL1_ENST00000535737.1_Silent_p.V20V|FHL1_ENST00000370676.3_Silent_p.V36V|FHL1_ENST00000370683.1_Silent_p.V36V|FHL1_ENST00000394153.2_Silent_p.V20V|FHL1_ENST00000370690.3_Silent_p.V20V|FHL1_ENST00000539015.1_Silent_p.V49V|FHL1_ENST00000477080.1_3'UTR	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	20					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					AGAAGTATGTGCAAAAGGATG	0.567													38	215					0	0	0	0	C	135288651	G	C	135288651	2	2	294	1	0	0	0	0	0	0	0	1	5923	1306	46	4		4	FHL1	23	135288651	Silent	SNP	G	TCGA-CV-7248-01A-11D-2012-08	1255471	135288651	19981909	314	52606											
GPR112	139378	broad.mit.edu	37	chrX	135426794	135426794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacactggtagatgagaCagctacatttgcagtggatg	14	9	12	6	0	0	3	0	1	0	3	0	5	0	4	0	2	3	3	0	2	3	3			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:135426794C>A	ENST00000394143.1	+	6	1220	c.929C>A	c.(928-930)aCa>aAa	p.T310K	GPR112_ENST00000412101.1_Missense_Mutation_p.T105K|GPR112_ENST00000287534.4_Missense_Mutation_p.T247K|GPR112_ENST00000370652.1_Missense_Mutation_p.T310K|GPR112_ENST00000394141.1_Missense_Mutation_p.T105K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	310					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTAGATGAGACAGCTACATTT	0.378													11	67					4.36969e-10	6.03223e-10	1	0	A	135426794	C	A	135426794	3	1	294	1	0	0	0	0	1	0	0	0	6678	478	17	4	939	4	GPR112	23	135426794	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	138143	135426794	19843766	315	52607											
GPR112	139378	broad.mit.edu	37	chrX	135482271	135482271	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttaaattttgtctagttggTtggggtaagtatatctgcca	9	17	10	5	0	2	0	0	0	2	0	2	0	2	0	1	3	1	4	1	3	6	9			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:135482271T>A	ENST00000394143.1	+	21	8862	c.8571T>A	c.(8569-8571)ggT>ggA	p.G2857G	GPR112_ENST00000412101.1_Silent_p.G2652G|GPR112_ENST00000287534.4_Silent_p.G2610G|GPR112_ENST00000370652.1_Silent_p.G2857G|GPR112_ENST00000394141.1_Silent_p.G2652G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2857					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTCTAGTTGGTTGGGGTAAGT	0.333													8	60					0	0	0	0	A	135482271	T	A	135482271	2	1	294	1	0	0	0	0	0	0	0	1	6678	1712	60	5		5	GPR112	23	135482271	Silent	SNP	T	TCGA-CV-7248-01A-11D-2012-08	55477	135482271	19788289	316	52608											
MCF2	4168	broad.mit.edu	37	chrX	138670521	138670521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaggcttgaatttacctGtcaaaagttcctgctgcttc	9	14	8	10	0	1	1	1	1	0	0	3	1	2	1	2	1	4	5	2	1	4	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:138670521G>T	ENST00000520602.1	-	24	2912	c.2627C>A	c.(2626-2628)aCa>aAa	p.T876K	MCF2_ENST00000370576.4_Missense_Mutation_p.T816K|MCF2_ENST00000519895.1_Missense_Mutation_p.T892K|MCF2_ENST00000370573.4_Missense_Mutation_p.T816K|MCF2_ENST00000536274.1_Missense_Mutation_p.T777K|MCF2_ENST00000338585.6_Missense_Mutation_p.T832K|MCF2_ENST00000414978.1_Missense_Mutation_p.T876K|MCF2_ENST00000370578.4_Missense_Mutation_p.T961K			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	816					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GAATTTACCTGTCAAAAGTTC	0.328													10	39					2.17888e-05	2.56707e-05	1	0	T	138670521	G	T	138670521	3	4	294	1	0	0	0	0	1	0	0	0	9447	1377	48	4	378	4	MCF2	23	138670521	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	3188250	138670521	16600039	317	52609											
ATP11C	286410	broad.mit.edu	37	chrX	138844238	138844238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataatcgctattcctagctGcttggcgaccttctttgcct	7	15	7	12	2	1	0	0	0	1	0	3	1	2	0	3	1	3	3	3	1	4	7			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:138844238G>T	ENST00000370557.1	-	22	3540	c.2513C>A	c.(2512-2514)gCa>gAa	p.A838E	ATP11C_ENST00000361648.2_Missense_Mutation_p.A844E|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Missense_Mutation_p.A844E|ATP11C_ENST00000370543.1_Missense_Mutation_p.A844E|ATP11C_ENST00000327569.3_Missense_Mutation_p.A844E			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	844					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATTCCTAGCTGCTTGGCGACC	0.363													27	136					3.1745e-13	4.66503e-13	1	0	T	138844238	G	T	138844238	3	4	294	1	0	0	0	0	1	0	0	0	1125	1319	46	4	966	4	ATP11C	23	138844238	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	173717	138844238	16426322	318	52610											
CDR1	1038	broad.mit.edu	37	chrX	139866430	139866430	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctacttgtgtcttcCaacaaaggtacgtcttccaa	10	12	6	13	1	2	0	0	0	2	0	5	0	5	0	4	1	4	1	4	1	5	5			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:139866430C>T	ENST00000370532.2	-	1	293	c.102G>A	c.(100-102)ttG>ttA	p.L34L		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	34	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TTGTGTCTTCCAACAAAGGTA	0.453													33	207					0	0	0	0	T	139866430	C	T	139866430	2	4	294	1	0	0	0	0	0	0	0	1	3200	593	21	4		4	CDR1	23	139866430	Silent	SNP	C	TCGA-CV-7248-01A-11D-2012-08	1022192	139866430	15404130	319	52611											
UBE2NL	389898	broad.mit.edu	37	chrX	142967601	142967601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggagcagtggaagaccaaCgaagcccaagccattgaaac	15	4	12	10	1	0	2	0	1	0	1	0	5	0	4	3	2	5	1	3	2	5	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:142967601C>A	ENST00000370494.1	+	1	429	c.399C>A	c.(397-399)aaC>aaA	p.N133K		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	133							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGACCAACGAAGCCCAAG	0.438													9	101					4.68919e-08	6.08407e-08	1	0	A	142967601	C	A	142967601	3	1	294	1	0	0	0	0	1	0	0	0	16963	535	19	3	401	3	UBE2NL	23	142967601	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	3101171	142967601	12302959	320	52612											
MAGEA11	4110	broad.mit.edu	37	chrX	148798378	148798378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caatgccaatgggagggatcCcacttcttacccatccctgt	9	10	8	14	0	1	0	0	0	1	0	3	2	3	2	4	2	2	0	4	2	3	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:148798378C>A	ENST00000355220.5	+	5	1334	c.1232C>A	c.(1231-1233)cCc>cAc	p.P411H	MAGEA11_ENST00000333104.4_Missense_Mutation_p.P382H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	411	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGGAGGGATCCCACTTCTTAC	0.547													24	168					5.45024e-15	8.12581e-15	1	0	A	148798378	C	A	148798378	3	1	294	1	0	0	0	0	1	0	0	0	9230	623	22	4	1259	4	MAGEA11	23	148798378	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	5830777	148798378	6472182	321	52613											
MAGEA5	4104	broad.mit.edu	37	chrX	151283933	151283933	+	RNA	SNP	C	C	A																															cagtagtggcagcctgcacaCccaccaggcccagggcctct																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:151283933C>A	ENST00000509345.2	-	0	403																		p.G27V(1)									AGCCTGCACACCCACCAGGCC	0.627													20	115					3.51602e-12	5.00544e-12	1	0	A	151283933	C	A	151283933	1	1	294	0	1	0	0	0	0	0	0	0	9236	507	18	4		4	MAGEA5	23	151283933	RNA	SNP	C	TCGA-CV-7248-01A-11D-2012-08	2485555	151283933	3986627	322	52614	416	2									
MAGEA5	4104	broad.mit.edu	37	chrX	151283934	151283934	+	RNA	SNP	C	C	A																															agtagtggcagcctgcacacCcaccaggcccagggcctctt																										TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:151283934C>A	ENST00000509345.2	-	0	402																											GCCTGCACACCCACCAGGCCC	0.627													20	112					3.51602e-12	5.00544e-12	1	0	A	151283934	C	A	151283934	1	1	294	0	1	0	0	0	0	0	0	0	9236	623	22	4		4	MAGEA5	23	151283934	RNA	SNP	C	TCGA-CV-7248-01A-11D-2012-08	1	151283934	3986626	323	52615	416	2									
SRPK3	26576	broad.mit.edu	37	chrX	153046726	153046726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgaactagccctggccacaCcggtgcctcagatgctgcag	8	6	11	16	2	1	1	1	0	0	1	1	2	1	1	5	2	5	2	5	2	2	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153046726C>A	ENST00000489426.1	+	8	2682	c.316C>A	c.(316-318)Ccg>Acg	p.P106T	SRPK3_ENST00000370100.1_Intron|SRPK3_ENST00000393786.3_Missense_Mutation_p.P39T|SRPK3_ENST00000370101.3_Missense_Mutation_p.P39T|SRPK3_ENST00000370108.3_Missense_Mutation_p.P39T|SRPK3_ENST00000370104.1_Missense_Mutation_p.P39T			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	39	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGCCACACCGGTGCCTCA	0.662													9	44					0.000274275	0.000311504	1	0	A	153046726	C	A	153046726	3	1	294	1	0	0	0	0	1	0	0	0	15251	507	18	4	121	4	SRPK3	23	153046726	Missense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	1762792	153046726	2223834	324	52616											
SRPK3	26576	broad.mit.edu	37	chrX	153049747	153049747	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgctctgccttccccAgcaccattcggtgcctcgaa	5	10	7	19	2	1	0	0	0	1	0	5	1	3	0	6	1	4	2	6	1	1	2			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153049747A>T	ENST00000489426.1	+	17	3714		c.e17-1		SRPK3_ENST00000370100.1_Splice_Site|SRPK3_ENST00000393786.3_Splice_Site|SRPK3_ENST00000370101.3_Splice_Site|SRPK3_ENST00000370108.3_Splice_Site|SRPK3_ENST00000370104.1_Splice_Site			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3						cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTTCCCCAGCACCATTCG	0.612													12	56					0	0	0	0	T	153049747	A	T	153049747	5	4	294	1	0	0	0	0	0	0	1	0	15251	202	7	5	1188	5	SRPK3	23	153049747	Splice_Site	SNP	A	TCGA-CV-7248-01A-11D-2012-08	3021	153049747	2220813	325	52617											
HCFC1	3054	broad.mit.edu	37	chrX	153218076	153218076	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagccgtcactgccagctCctcgggggtgagccccgtta	6	7	13	15	3	1	1	1	1	0	0	3	1	2	1	5	2	5	3	5	2	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153218076C>A	ENST00000310441.7	-	19	5797	c.4831G>T	c.(4831-4833)Gag>Tag	p.E1611*	HCFC1_ENST00000369984.4_Nonsense_Mutation_p.E1655*|HCFC1_ENST00000354233.3_Nonsense_Mutation_p.E1542*	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1611					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCCAGCTCCTCGGGGGTG	0.662													11	49					1.58986e-06	1.92853e-06	1	0	A	153218076	C	A	153218076	4	1	294	1	0	0	0	0	0	1	0	0	7041	864	30	2	1308	2	HCFC1	23	153218076	Nonsense_Mutation	SNP	C	TCGA-CV-7248-01A-11D-2012-08	168329	153218076	2052484	326	52618											
GAB3	139716	broad.mit.edu	37	chrX	153944560	153944560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaagacatcggggttgccGctcatgcggcctcgccggag	6	7	14	14	5	1	1	1	0	0	1	4	2	2	2	4	4	2	2	4	4	1	1			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153944560G>T	ENST00000369575.3	-	2	148	c.117C>A	c.(115-117)agC>agA	p.S39R	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.S39R	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	39	PH.									NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGGGTTGCCGCTCATGCGGC	0.562													10	56					0.000442599	0.000497166	1	0	T	153944560	G	T	153944560	3	4	294	1	0	0	0	0	1	0	0	0	6198	1078	38	3	1682	3	GAB3	23	153944560	Missense_Mutation	SNP	G	TCGA-CV-7248-01A-11D-2012-08	726484	153944560	1326000	327	52619											
PLEKHN1	84069	broad.mit.edu	37	chr1	906364	906364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcggggggccgcggcGctgccactcggcacccccac	3	4	13	21	5	0	0	0	0	0	0	3	0	1	0	6	5	1	2	6	5	0	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:906364G>A	ENST00000379409.2	+	5	740	c.710G>A	c.(709-711)cGc>cAc	p.R237H	PLEKHN1_ENST00000379407.2_Missense_Mutation_p.R197H|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R197H			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	237										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGGCCGCGGCGCTGCCACTCG	0.736													5	10					0	0	0	0	A	906364	G	A	906364	3	1	295	1	0	0	0	0	1	0	0	0	12155	1087	38	1	612	1	PLEKHN1	1	906364	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08		906364	248344257	1	52620											
NADK	65220	broad.mit.edu	37	chr1	1685535	1685535	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgatgggccggaaggacagCgagtgggggcagatgggcgt	9	4	21	7	4	0	1	0	0	0	1	0	5	0	3	1	6	1	1	1	6	1	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:1685535C>T	ENST00000344463.4	-	12	1712	c.1491G>A	c.(1489-1491)tcG>tcA	p.S497S	NADK_ENST00000341426.5_Silent_p.S352S|NADK_ENST00000342348.5_Silent_p.S320S|NADK_ENST00000341991.3_Silent_p.S352S|NADK_ENST00000378625.1_Silent_p.S497S			O95544	NADK_HUMAN	NAD kinase	352					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGAAGGACAGCGAGTGGGGGC	0.662													9	77					0	0	0	0	T	1685535	C	T	1685535	2	4	295	1	0	0	0	0	0	0	0	1	10207	755	27	1		1	NADK	1	1685535	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	779171	1685535	247565086	2	52621											
TARDBP	23435	broad.mit.edu	37	chr1	11082376	11082376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttgggaaacaatcaaGgtagtaatatgggtggtggg	11	11	16	3	0	1	0	1	0	0	0	1	1	1	1	0	6	1	3	0	6	6	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:11082376G>A	ENST00000240185.3	+	6	1024	c.910G>A	c.(910-912)Ggt>Agt	p.G304S	TARDBP_ENST00000315091.3_Intron|TARDBP_ENST00000439080.2_Missense_Mutation_p.G188S	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	304	Gly-rich.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AAACAATCAAGGTAGTAATAT	0.498													6	60					0	0	0	0	A	11082376	G	A	11082376	3	1	295	1	0	0	0	0	1	0	0	0	15648	1000	35	4	928	4	TARDBP	1	11082376	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	9396841	11082376	238168245	3	52622											
PRDM2	7799	broad.mit.edu	37	chr1	14107331	14107331	+	Frame_Shift_Del	DEL	C	C	-																															cccctctccactctcaaatgCcaccgcacagtccccacttc																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:14107331delC	ENST00000235372.7	+	8	3897	c.3041delC	c.(3040-3042)gcfs	p.A1014fs	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000311066.5_Frame_Shift_Del_p.A1014fs|PRDM2_ENST00000413440.1_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1014	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTCTCAAATGCCACCGCACAG	0.632													44	74	---	---	---	---					-	14107331	C	-	14107331	7	5	295	1	0	1	0	1	0	0	0	0	12538	739	26	0	3067	0	PRDM2	1	14107331	Frame_Shift_Del	DEL	C	TCGA-CV-7250-01A-11D-2012-08	3024955	14107331	235143290	4	52623											
CLSPN	63967	broad.mit.edu	37	chr1	36226310	36226311	+	Frame_Shift_Ins	INS	-	-	T																															cctgaatttctagctcttcaINSttttttaccaaatccttcct																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:36226310_36226311insT	ENST00000251195.5	-	8	1307_1308	c.1211_1212insA	c.(1210-1212)agafs	p.R404fs	CLSPN_ENST00000520551.1_Frame_Shift_Ins_p.R404fs|CLSPN_ENST00000318121.3_Frame_Shift_Ins_p.R404fs|CLSPN_ENST00000373220.3_Frame_Shift_Ins_p.R404fs			Q9HAW4	CLSPN_HUMAN	claspin	404					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTAGCTCTTCATTTTTTACCAA	0.436													19	103	---	---	---	---					T	36226311	-	T	36226310	7	5	295	1	0	1	1	0	0	0	0	0	3590	214	8	0	2879	0	CLSPN	1	36226310	Frame_Shift_Ins	INS	-	TCGA-CV-7250-01A-11D-2012-08	22118979	36226310	213024311	5	52624											
HIVEP3	59269	broad.mit.edu	37	chr1	41978886	41978886	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggggctgaggcctgtggTtctcgggccggggagcatcg	3	9	19	10	3	1	1	0	1	1	0	3	2	1	2	2	7	1	3	2	7	0	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:41978886T>A	ENST00000372584.1	-	7	7020	c.6006A>T	c.(6004-6006)gaA>gaT	p.E2002D	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E2002D|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E2002D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E2002D	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2002					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)				AGGCCTGTGGTTCTCGGGCCG	0.632													30	44					0	0	0	0	A	41978886	T	A	41978886	3	1	295	1	0	0	0	0	1	0	0	0	7238	1722	60	5	1222	5	HIVEP3	1	41978886	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	5752576	41978886	207271735	6	52625											
HIVEP3	59269	broad.mit.edu	37	chr1	42050284	42050284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttccctaagaactgatgagGggcccgggaagggctgcggg	8	6	17	10	2	0	3	0	2	0	1	1	4	1	4	2	5	2	1	2	5	3	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:42050284G>A	ENST00000372584.1	-	3	1199	c.185C>T	c.(184-186)cCc>cTc	p.P62L	HIVEP3_ENST00000247584.5_Missense_Mutation_p.P62L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P62L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P62L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	62					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)				AACTGATGAGGGGCCCGGGAA	0.622													46	76					0	0	0	0	A	42050284	G	A	42050284	3	1	295	1	0	0	0	0	1	0	0	0	7238	1232	43	4	7059	4	HIVEP3	1	42050284	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	71398	42050284	207200337	7	52626											
C8B	732	broad.mit.edu	37	chr1	57422503	57422503	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatggtctgttggtaacAcagtcttcgacttccttgtc	6	14	9	12	2	2	0	0	0	2	0	5	1	3	0	2	2	1	3	2	2	1	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:57422503A>G	ENST00000543257.1	-	4	740	c.174T>C	c.(172-174)tgT>tgC	p.C58C	C8B_ENST00000371237.4_Silent_p.C110C|C8B_ENST00000535057.1_Silent_p.C48C	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	110					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTTGGTAACACAGTCTTCGA	0.498													28	222					0	0	0	0	G	57422503	A	G	57422503	2	3	295	1	0	0	0	0	0	0	0	1	2440	157	6	5		5	C8B	1	57422503	Silent	SNP	A	TCGA-CV-7250-01A-11D-2012-08	15372219	57422503	191828118	8	52627											
LRRC40	55631	broad.mit.edu	37	chr1	70616847	70616847	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgtttgcagtcttaccAgtgattccatttcttctggc	6	17	8	10	1	3	2	0	2	3	0	5	2	4	2	2	1	2	2	2	1	1	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:70616847A>T	ENST00000370952.3	-	13	1560	c.1481T>A	c.(1480-1482)cTg>cAg	p.L494Q		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	494										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CAGTCTTACCAGTGATTCCAT	0.284													10	19					0	0	0	0	T	70616847	A	T	70616847	3	4	295	1	0	0	0	0	1	0	0	0	9062	188	7	5	339	5	LRRC40	1	70616847	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	13194344	70616847	178633774	9	52628											
C1orf173	127254	broad.mit.edu	37	chr1	75038758	75038758	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgtgagcatcaaggctTgcttttcaggagcctcatct	8	12	10	11	0	4	1	3	1	1	0	4	2	4	2	1	2	3	4	1	2	1	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:75038758T>C	ENST00000326665.5	-	14	2854	c.2636A>G	c.(2635-2637)cAa>cGa	p.Q879R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	879	Glu-rich.									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						CATCAAGGCTTGCTTTTCAGG	0.527													72	156					0	0	0	0	C	75038758	T	C	75038758	3	2	295	1	0	0	0	0	1	0	0	0	2033	1812	63	5	1960	5	C1orf173	1	75038758	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	4421911	75038758	174211863	10	52629											
HFM1	164045	broad.mit.edu	37	chr1	91859650	91859650	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttaattataataattacCttttccggaatactgatgtg	13	17	6	5	1	0	1	0	1	0	0	1	2	1	2	2	1	2	1	2	1	7	9			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:91859650C>G	ENST00000370425.3	-	4	592	c.494_splice	c.e4+1	p.R165_splice	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	165							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		taataattaCCTTTTCCGGAA	0.289													9	10					0	0	0	0	G	91859650	C	G	91859650	5	3	295	1	0	0	0	0	0	0	1	0	7133	695	24	4	3957	4	HFM1	1	91859650	Splice_Site	SNP	C	TCGA-CV-7250-01A-11D-2012-08	16820892	91859650	157390971	11	52630											
ARHGAP29	9411	broad.mit.edu	37	chr1	94669495	94669495	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacacttacctgaattccAatgttagttctagttgcctc	11	14	6	10	0	1	2	0	1	1	1	3	2	2	2	3	0	3	3	3	0	6	6			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:94669495A>G	ENST00000260526.6	-	8	935	c.753T>C	c.(751-753)atT>atC	p.I251I	ARHGAP29_ENST00000370217.3_Silent_p.I251I	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	251					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCTGAATTCCAATGTTAGTTC	0.338													7	26					0	0	0	0	G	94669495	A	G	94669495	2	3	295	1	0	0	0	0	0	0	0	1	880	126	5	5		5	ARHGAP29	1	94669495	Silent	SNP	A	TCGA-CV-7250-01A-11D-2012-08	2809845	94669495	154581126	12	52631											
LPPR4	9890	broad.mit.edu	37	chr1	99772018	99772018	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatgcaagtcatagccAtgtccaagcagcagggtgtc	12	8	11	10	0	2	0	2	0	0	0	4	1	3	0	2	1	4	3	2	1	4	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:99772018A>C	ENST00000370185.3	+	7	2241	c.1744A>C	c.(1744-1746)Atg>Ctg	p.M582L	LPPR4_ENST00000457765.1_Missense_Mutation_p.M524L|LPPR4_ENST00000370184.1_Missense_Mutation_p.M424L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		582							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGTCATAGCCATGTCCAAGCA	0.537													23	47					0	0	0	0	C	99772018	A	C	99772018	3	2	295	1	0	0	0	0	1	0	0	0	8991	217	8	5	1770	5	LPPR4	1	99772018	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	5102523	99772018	149478603	13	52632											
COL11A1	1301	broad.mit.edu	37	chr1	103400075	103400075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctttttgcccaaacatcCcctgctgtcctctaggacct	7	12	5	17	0	1	0	0	0	1	0	3	1	3	1	6	1	3	1	6	1	2	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:103400075C>T	ENST00000358392.2	-	46	3883	c.3566G>A	c.(3565-3567)gGg>gAg	p.G1189E	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1061E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1138E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1177E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1177	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCAAACATCCCCTGCTGTCC	0.448													16	49					0	0	0	0	T	103400075	C	T	103400075	3	4	295	1	0	0	0	0	1	0	0	0	3697	623	22	4	1978	4	COL11A1	1	103400075	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	3628057	103400075	145850546	14	52633											
SV2A	9900	broad.mit.edu	37	chr1	149876628	149876628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagagctgccaagggcaaGggcagctgaggcaaagagga	14	2	17	8	0	0	3	0	1	0	2	0	5	0	4	1	4	3	5	1	4	3	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:149876628G>A	ENST00000369146.3	-	13	2657	c.2167C>T	c.(2167-2169)Ctt>Ttt	p.L723F		NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	723					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCAAGGGCAAGGGCAGCTGAG	0.602													7	27					0	0	0	0	A	149876628	G	A	149876628	3	1	295	1	0	0	0	0	1	0	0	0	15507	1000	35	4	65	4	SV2A	1	149876628	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	46476553	149876628	99373993	15	52634											
ARNT	405	broad.mit.edu	37	chr1	150808901	150808901	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtcagacacatacaccacCctgcctgtctcacatgagac	12	7	7	15	0	2	2	2	1	1	2	3	4	2	2	3	0	2	0	3	0	1	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:150808901C>A	ENST00000358595.5	-	7	755	c.555G>T	c.(553-555)agG>agT	p.R185S	ARNT_ENST00000515192.1_Missense_Mutation_p.R176S|ARNT_ENST00000505755.1_Missense_Mutation_p.R170S|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Missense_Mutation_p.R185S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	185	PAS 1.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	p.R185R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATACACCACCCTGCCTGTCT	0.453			T	ETV6	AML								11	40					3.86212e-05	0.000147609	1	0	A	150808901	C	A	150808901	3	1	295	1	0	0	0	0	1	0	0	0	969	622	22	4	1878	4	ARNT	1	150808901	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	932273	150808901	98441720	16	52635											
CD1D	912	broad.mit.edu	37	chr1	158152775	158152775	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgtatgggtgaagtggAtgcggggtgagcaggagcag	9	7	20	5	1	0	2	0	2	0	0	0	4	0	4	1	5	4	3	1	5	2	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:158152775A>T	ENST00000368171.3	+	5	1214	c.715A>T	c.(715-717)Atg>Ttg	p.M239L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	239	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGTGAAGTGGATGCGGGGTGA	0.627													10	133					0	0	0	0	T	158152775	A	T	158152775	3	4	295	1	0	0	0	0	1	0	0	0	3006	333	12	5	729	5	CD1D	1	158152775	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	7343874	158152775	91097846	17	52636											
CD84	8832	broad.mit.edu	37	chr1	160520798	160520798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgaagccatgatatatGtgtatatggttttctttgag	9	18	9	5	0	1	3	0	3	1	0	2	3	2	3	2	1	1	2	2	1	5	8			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:160520798G>C	ENST00000368054.3	-	5	823	c.788C>G	c.(787-789)aCa>aGa	p.T263R	RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368048.3_Missense_Mutation_p.T274R|CD84_ENST00000311224.4_Missense_Mutation_p.T280R|CD84_ENST00000534968.1_Missense_Mutation_p.T149R|CD84_ENST00000368051.3_Intron	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	280					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CATGATATATGTGTATATGGT	0.423													20	318					0	0	0	0	C	160520798	G	C	160520798	3	2	295	1	0	0	0	0	1	0	0	0	3071	1377	48	4	210	4	CD84	1	160520798	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	2368023	160520798	88729823	18	52637											
RXRG	6258	broad.mit.edu	37	chr1	165398200	165398200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagagccagtgtggccagggGagcctgtaagaagaagaata	14	6	15	6	0	0	4	0	0	0	4	0	5	0	5	3	3	2	1	3	3	6	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:165398200G>A	ENST00000359842.5	-	2	355	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	18	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GTGGCCAGGGGAGCCTGTAAG	0.567													18	22					0	0	0	0	A	165398200	G	A	165398200	3	1	295	1	0	0	0	0	1	0	0	0	13850	1174	41	2	1374	2	RXRG	1	165398200	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	4877402	165398200	83852421	19	52638											
LGR6	59352	broad.mit.edu	37	chr1	202287594	202287594	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactctgcctgccctacgcGccacctgagggtcagccagc	6	6	10	19	2	2	1	1	1	1	0	2	1	2	1	6	1	5	0	6	1	1	1	rs140182035		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:202287594G>A	ENST00000367278.3	+	18	2252	c.2163G>A	c.(2161-2163)gcG>gcA	p.A721A	LGR6_ENST00000439764.2_Silent_p.A582A|LGR6_ENST00000255432.7_Silent_p.A669A	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	721						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGCCCTACGCGCCACCTGAGG	0.667													10	33					0	0	0	0	A	202287594	G	A	202287594	2	1	295	1	0	0	0	0	0	0	0	1	8812	1074	38	1		1	LGR6	1	202287594	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	36889394	202287594	46963027	20	52639											
PPFIA4	8497	broad.mit.edu	37	chr1	203008176	203008176	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcaatgagggggaccgcCtgggtccccctcatggcgcc	7	6	13	15	2	2	1	2	1	0	0	3	2	3	2	5	4	0	0	5	4	2	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:203008176C>T	ENST00000367240.2	+	2	567	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	PPFIA4_ENST00000447715.2_Silent_p.L14L|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	0					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGGGGACCGCCTGGGTCCCCC	0.622											OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	11					0	0	0	0	T	203008176	C	T	203008176	2	4	295	1	0	0	0	0	0	0	0	1	12383	696	24	4		4	PPFIA4	1	203008176	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	720582	203008176	46242445	21	52640											
TMCC2	9911	broad.mit.edu	37	chr1	205238351	205238351	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgttcgagaagaagaacCagaagtcagcccagaccatc	16	5	10	10	1	1	5	1	0	0	5	3	6	1	5	3	0	2	1	3	0	5	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:205238351C>T	ENST00000358024.3	+	3	1410	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	TMCC2_ENST00000545499.1_Nonsense_Mutation_p.Q263*|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000329800.7_Nonsense_Mutation_p.Q101*|TMCC2_ENST00000330675.7_Nonsense_Mutation_p.Q116*	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	341						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GAAGAAGAACCAGAAGTCAGC	0.592													4	45					0	0	0	0	T	205238351	C	T	205238351	4	4	295	1	0	0	0	0	0	1	0	0	16087	595	21	4	1031	4	TMCC2	1	205238351	Nonsense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	2230175	205238351	44012270	22	52641											
IL19	29949	broad.mit.edu	37	chr1	206972269	206972269	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggagcgtttccgcacagAtctgcgtgttccttaccact	7	11	11	12	3	1	1	0	0	1	1	3	3	3	2	3	1	3	3	3	1	1	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:206972269A>T	ENST00000340758.2	+	1	55	c.30A>T	c.(28-30)agA>agT	p.R10S		NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	interleukin 19	0					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TTCCGCACAGATCTGCGTGTT	0.478													34	80					0	0	0	0	T	206972269	A	T	206972269	3	4	295	1	0	0	0	0	1	0	0	0	7702	330	12	5	32	5	IL19	1	206972269	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	1733918	206972269	42278352	23	52642											
LYST	1130	broad.mit.edu	37	chr1	235904812	235904812	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttctctcttgtgcagcGtgggctggcgacaaaatatg	7	13	12	9	2	2	0	0	0	2	0	3	1	2	0	0	2	3	3	0	2	3	3	rs141534829	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:235904812G>A	ENST00000389794.3	-	31	8442	c.8268C>T	c.(8266-8268)caC>caT	p.H2756H	LYST_ENST00000389793.2_Silent_p.H2756H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2756					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.H2756H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTGTGCAGCGTGGGCTGGCG	0.438													6	94					0	0	0	0	A	235904812	G	A	235904812	2	1	295	1	0	0	0	0	0	0	0	1	9193	1136	40	1		1	LYST	1	235904812	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	28932543	235904812	13345809	24	52643											
HEATR1	55127	broad.mit.edu	37	chr1	236714247	236714247	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacagtttccagttgCtgaatagtcttttggcactg	8	13	10	10	0	1	1	0	1	1	0	2	2	2	2	2	2	1	4	2	2	2	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:236714247C>T	ENST00000366582.3	-	45	6504	c.6390G>A	c.(6388-6390)caG>caA	p.Q2130Q	HEATR1_ENST00000366581.2_Silent_p.Q2049Q|LGALS8_ENST00000526589.1_3'UTR|LGALS8_ENST00000366584.4_3'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2130					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTCCAGTTGCTGAATAGTCT	0.373													30	38					0	0	0	0	T	236714247	C	T	236714247	2	4	295	1	0	0	0	0	0	0	0	1	7077	796	28	4		4	HEATR1	1	236714247	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	809435	236714247	12536374	25	52644											
PXDN	7837	broad.mit.edu	37	chr2	1651956	1651956	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcaccttttcagtttcTcccggatctcagggttttta	6	16	7	12	1	4	0	3	0	2	0	6	1	4	1	2	2	1	3	2	2	1	6			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:1651956T>C	ENST00000252804.4	-	17	3646	c.3596A>G	c.(3595-3597)gAg>gGg	p.E1199G		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1199					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTTCAGTTTCTCCCGGATCTC	0.512													34	202					0	0	0	0	C	1651956	T	C	1651956	3	2	295	1	0	0	0	0	1	0	0	0	12929	1551	54	5	871	5	PXDN	2	1651956	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08		1651956	241547417	26	52645											
ROCK2	9475	broad.mit.edu	37	chr2	11367521	11367521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatcacaatgtaccatgcCtgtctgcatgaacaggagag	12	10	10	9	0	2	2	1	1	1	1	2	3	2	2	2	1	4	3	2	1	4	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:11367521C>T	ENST00000315872.6	-	6	1175	c.727G>A	c.(727-729)Ggc>Agc	p.G243S	ROCK2_ENST00000401753.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	243	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGTACCATGCCTGTCTGCATG	0.373													54	130					0	0	0	0	T	11367521	C	T	11367521	3	4	295	1	0	0	0	0	1	0	0	0	13603	681	24	4	3551	4	ROCK2	2	11367521	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	9715565	11367521	231831852	27	52646											
DNMT3A	1788	broad.mit.edu	37	chr2	25468197	25468197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctcccacaggagatgcaGatgtctggaaagcagaggga	13	5	15	8	0	1	3	0	0	1	3	2	6	2	5	1	4	2	3	1	4	1	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:25468197G>A	ENST00000264709.3	-	13	1816	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	DNMT3A_ENST00000402667.1_Silent_p.I270I|DNMT3A_ENST00000321117.5_Silent_p.I493I|DNMT3A_ENST00000380746.4_Silent_p.I304I	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	493	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGATGCAGATGTCTGGAA	0.602			"Mis, F, N, S"		AML								34	36					0	0	0	0	A	25468197	G	A	25468197	2	1	295	1	0	0	0	0	0	0	0	1	4712	932	33	2		2	DNMT3A	2	25468197	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	14100676	25468197	217731176	28	52647											
RGPD4	285190	broad.mit.edu	37	chr2	108488441	108488441	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatctgatgttactcaagaAgaagagagagatggacagta	17	8	12	4	0	2	5	1	1	1	4	2	9	2	6	0	1	1	2	0	1	6	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:108488441A>G	ENST00000408999.3	+	20	4058	c.3981A>G	c.(3979-3981)gaA>gaG	p.E1327E	RGPD4_ENST00000354986.4_Silent_p.E1327E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1327					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTACTCAAGAAGAAGAGAGAG	0.393													17	233					0	0	0	0	G	108488441	A	G	108488441	2	3	295	1	0	0	0	0	0	0	0	1	13370	69	3	5		5	RGPD4	2	108488441	Silent	SNP	A	TCGA-CV-7250-01A-11D-2012-08	83020244	108488441	134710932	29	52648											
MERTK	10461	broad.mit.edu	37	chr2	112786077	112786077	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaatacacagttgctggAgagctctgagggcctggccc	8	8	13	12	1	2	2	1	1	1	1	2	3	2	2	2	3	3	3	2	3	2	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:112786077A>G	ENST00000295408.4	+	19	2893	c.2636A>G	c.(2635-2637)gAg>gGg	p.E879G	MERTK_ENST00000409780.1_Missense_Mutation_p.E703G|MERTK_ENST00000421804.2_Missense_Mutation_p.E879G			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	879					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CAGTTGCTGGAGAGCTCTGAG	0.522													43	164					0	0	0	0	G	112786077	A	G	112786077	3	3	295	1	0	0	0	0	1	0	0	0	9548	304	11	5	2710	5	MERTK	2	112786077	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	4297636	112786077	130413296	30	52649											
SLC20A1	6574	broad.mit.edu	37	chr2	113417263	113417263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccaggataagcctgaaGtctctctcctcttccagttc	9	12	7	13	0	3	2	0	2	3	0	7	3	4	3	4	1	1	1	4	1	2	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:113417263G>A	ENST00000272542.3	+	8	2070	c.1531G>A	c.(1531-1533)Gtc>Atc	p.V511I		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	511					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TAAGCCTGAAGTCTCTCTCCT	0.468													11	163					0	0	0	0	A	113417263	G	A	113417263	3	1	295	1	0	0	0	0	1	0	0	0	14526	1029	36	4	1557	4	SLC20A1	2	113417263	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	631186	113417263	129782110	31	52650											
EN1	2019	broad.mit.edu	37	chr2	119603946	119603946	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccatacgagaggctgctgCgagtcagttttgaccacggg	8	8	15	10	3	1	2	1	1	0	1	1	4	1	2	2	3	3	3	2	3	1	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:119603946C>T	ENST00000295206.6	-	1	1308	c.798G>A	c.(796-798)tcG>tcA	p.S266S		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	266					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GAGGCTGCTGCGAGTCAGTTT	0.637													5	14					0	0	0	0	T	119603946	C	T	119603946	2	4	295	1	0	0	0	0	0	0	0	1	5147	755	27	1		1	EN1	2	119603946	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	6186683	119603946	123595427	32	52651											
THSD7B	80731	broad.mit.edu	37	chr2	138414509	138414510	+	Frame_Shift_Ins	INS	-	-	A																															gaaccaagacagctgcccccINSaacaggttctagaaacacgc																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:138414509_138414510insA	ENST00000409968.1	+	23	4427_4428	c.4249_4250insA	c.(4249-4251)acafs	p.T1417fs	THSD7B_ENST00000272643.3_Frame_Shift_Ins_p.T1420fs|THSD7B_ENST00000413152.2_Frame_Shift_Ins_p.T1389fs|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGCTGCCCCCAACAGGTTCTA	0.426													51	206	---	---	---	---					A	138414510	-	A	138414509	7	5	295	1	0	1	1	0	0	0	0	0	15974	595	21	0	4247	0	THSD7B	2	138414509	Frame_Shift_Ins	INS	-	TCGA-CV-7250-01A-11D-2012-08	18810563	138414509	104784864	33	52652											
ZEB2	9839	broad.mit.edu	37	chr2	145156077	145156077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaagagctgtgtataaagGtttggcactaaatgggttca	12	12	13	4	0	1	1	1	0	0	1	1	2	1	2	0	4	1	5	0	4	6	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:145156077G>A	ENST00000558170.2	-	8	3861	c.2677C>T	c.(2677-2679)Cct>Tct	p.P893S	ZEB2_ENST00000303660.4_Missense_Mutation_p.P893S|ZEB2_ENST00000539609.3_Missense_Mutation_p.P869S|ZEB2_ENST00000409487.3_Missense_Mutation_p.P893S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	893						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.P893S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGTATAAAGGTTTGGCACTA	0.438													9	177					0	0	0	0	A	145156077	G	A	145156077	3	1	295	1	0	0	0	0	1	0	0	0	17719	1261	44	4	979	4	ZEB2	2	145156077	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	6741568	145156077	98043296	34	52653											
NEB	4703	broad.mit.edu	37	chr2	152423805	152423805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtctgcccctgcttggcGgccaagactgacaccatatc	8	8	11	14	1	1	2	0	1	1	1	2	2	1	2	4	3	2	1	4	3	2	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:152423805G>A	ENST00000427231.2	-	114	18235	c.18033C>T	c.(18031-18033)gcC>gcT	p.A6011A	NEB_ENST00000409198.1_Silent_p.A4310A|NEB_ENST00000603639.1_Silent_p.A6011A|NEB_ENST00000397345.3_Silent_p.A6011A|NEB_ENST00000604864.1_Silent_p.A6011A|NEB_ENST00000172853.10_Silent_p.A4310A	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6028					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTGCTTGGCGGCCAAGACTG	0.438													52	53					0	0	0	0	A	152423805	G	A	152423805	2	1	295	1	0	0	0	0	0	0	0	1	10372	1103	39	1		1	NEB	2	152423805	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	7267728	152423805	90775568	35	52654											
NEB	4703	broad.mit.edu	37	chr2	152483591	152483591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggtaaatttcagcttGtccggaggctggcggtagat	9	11	13	8	2	1	1	1	0	0	1	2	2	2	2	1	5	1	4	1	5	3	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:152483591G>C	ENST00000427231.2	-	70	10474	c.10272C>G	c.(10270-10272)gaC>gaG	p.D3424E	NEB_ENST00000409198.1_Missense_Mutation_p.D3181E|NEB_ENST00000603639.1_Missense_Mutation_p.D3424E|NEB_ENST00000397345.3_Missense_Mutation_p.D3424E|NEB_ENST00000604864.1_Missense_Mutation_p.D3424E|NEB_ENST00000172853.10_Missense_Mutation_p.D3181E	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3424					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTTCAGCTTGTCCGGAGGCT	0.488													9	111					0	0	0	0	C	152483591	G	C	152483591	3	2	295	1	0	0	0	0	1	0	0	0	10372	1368	48	4	15866	4	NEB	2	152483591	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	59786	152483591	90715782	36	52655											
COL3A1	1281	broad.mit.edu	37	chr2	189870100	189870100	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagtgggaaaccaggagctAacggtctcagtggagaacgt	14	6	14	7	2	1	1	1	0	1	1	2	4	1	3	1	4	4	1	1	4	4	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:189870100A>T	ENST00000304636.3	+	41	3126	c.2956A>T	c.(2956-2958)Aac>Tac	p.N986Y	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	986	Triple-helical region.			ANGLS -> PSGQN (in Ref. 20; AA sequence).	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACCAGGAGCTAACGGTCTCAG	0.433													52	62					0	0	0	0	T	189870100	A	T	189870100	3	4	295	1	0	0	0	0	1	0	0	0	3718	362	13	5	3118	5	COL3A1	2	189870100	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	37386509	189870100	53329273	37	52656											
PGAP1	80055	broad.mit.edu	37	chr2	197767327	197767327	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacaacagataaggcactGgtatgatggcttaattttgg	13	11	10	7	0	0	2	0	1	0	1	0	2	0	2	1	4	1	3	1	4	4	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:197767327G>T	ENST00000354764.3	-	5	903	c.789C>A	c.(787-789)acC>acA	p.T263T	PGAP1_ENST00000409475.1_Silent_p.T263T|PGAP1_ENST00000409188.1_Silent_p.T221T|PGAP1_ENST00000485830.1_5'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	263					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ATAAGGCACTGGTATGATGGC	0.358													16	37					2.48551e-13	1.07634e-12	1	0	T	197767327	G	T	197767327	2	4	295	1	0	0	0	0	0	0	0	1	11849	1335	47	4		4	PGAP1	2	197767327	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	7897227	197767327	45432046	38	52657											
NRP2	8828	broad.mit.edu	37	chr2	206590770	206590770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catggtgatgacaatggctgGacccccaacttggattccaa	11	9	10	11	0	0	2	0	2	0	0	1	4	1	4	3	4	1	1	3	4	3	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:206590770G>T	ENST00000360409.3	+	6	1745	c.954G>T	c.(952-954)tgG>tgT	p.W318C	NRP2_ENST00000357785.5_Missense_Mutation_p.W318C|NRP2_ENST00000540841.1_Missense_Mutation_p.W318C|NRP2_ENST00000540178.1_Missense_Mutation_p.W318C|NRP2_ENST00000355117.4_Missense_Mutation_p.W318C|NRP2_ENST00000412873.2_Missense_Mutation_p.W318C|NRP2_ENST00000417189.1_Missense_Mutation_p.W318C|NRP2_ENST00000357118.4_Missense_Mutation_p.W318C|NRP2_ENST00000272849.3_Missense_Mutation_p.W318C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	318	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACAATGGCTGGACCCCCAACT	0.522													15	40					1.52009e-12	6.49903e-12	1	0	T	206590770	G	T	206590770	3	4	295	1	0	0	0	0	1	0	0	0	10732	1183	41	2	976	2	NRP2	2	206590770	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	8823443	206590770	36608603	39	52658											
IKZF2	22807	broad.mit.edu	37	chr2	213878608	213878608	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaaaaggcaccagagaaaTattgttgtccataataggct	15	10	8	8	0	1	1	1	0	0	1	2	2	2	1	2	2	0	3	2	2	6	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:213878608T>C	ENST00000457361.1	-	7	931	c.763A>G	c.(763-765)Att>Gtt	p.I255V	IKZF2_ENST00000374319.4_Missense_Mutation_p.I229V|IKZF2_ENST00000342002.2_Missense_Mutation_p.I261V|IKZF2_ENST00000374327.4_Missense_Mutation_p.I110V|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000434687.1_Missense_Mutation_p.I255V|IKZF2_ENST00000451136.2_Missense_Mutation_p.I183V	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ACCAGAGAAATATTGTTGTCC	0.388													38	70					0	0	0	0	C	213878608	T	C	213878608	3	2	295	1	0	0	0	0	1	0	0	0	7668	1406	49	5	825	5	IKZF2	2	213878608	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	7287838	213878608	29320765	40	52659											
SLC19A3	80704	broad.mit.edu	37	chr2	228560704	228560704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgcatgagaaataaagaaCcggcattgacaactgagaag	19	6	10	6	1	0	4	0	3	0	3	0	6	0	4	1	1	3	2	1	1	7	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:228560704C>T	ENST00000258403.3	-	4	1144	c.1073G>A	c.(1072-1074)gGt>gAt	p.G358D	SLC19A3_ENST00000541617.1_Missense_Mutation_p.G354D|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	358					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AAATAAAGAACCGGCATTGAC	0.468													29	86					0	0	0	0	T	228560704	C	T	228560704	3	4	295	1	0	0	0	0	1	0	0	0	14518	507	18	4	429	4	SLC19A3	2	228560704	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	14682096	228560704	14638669	41	52660											
ITPR1	3708	broad.mit.edu	37	chr3	4768850	4768850	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcggcagctggaagaccAtaaaagggtacgtagtcttg	11	8	13	9	2	1	1	0	0	1	1	1	2	1	2	2	3	3	4	2	3	5	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:4768850A>G	ENST00000302640.8	+	41	5518	c.5168A>G	c.(5167-5169)cAt>cGt	p.H1723R	ITPR1_ENST00000456211.2_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.H1723R|ITPR1_ENST00000423119.2_Intron|ITPR1_ENST00000357086.4_Intron|ITPR1_ENST00000354582.6_Intron|ITPR1_ENST00000544951.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1738					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGGAAGACCATAAAAGGGTA	0.478													17	43					0	0	0	0	G	4768850	A	G	4768850	3	3	295	1	0	0	0	0	1	0	0	0	7973	217	8	5	5371	5	ITPR1	3	4768850	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08		4768850	193253580	42	52661											
ZNF385D	79750	broad.mit.edu	37	chr3	21706434	21706434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcaagaggaaagggaaGaaatggtttaatatccagcg	16	8	13	4	1	1	2	1	0	0	2	2	4	2	4	1	3	1	1	1	3	6	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:21706434G>T	ENST00000281523.2	-	2	627	c.109C>A	c.(109-111)Ctt>Att	p.L37I	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	37						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAAAGGGAAGAAATGGTTTA	0.512													10	23					2.74318e-10	1.14375e-09	1	0	T	21706434	G	T	21706434	3	4	295	1	0	0	0	0	1	0	0	0	17973	942	33	2	1106	2	ZNF385D	3	21706434	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	16937584	21706434	176315996	43	52662											
GLB1	2720	broad.mit.edu	37	chr3	33059966	33059966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacagcaacatatgctcgatCgtggactccattgaggggtg	10	9	12	10	2	0	1	0	1	0	0	3	3	1	2	1	3	3	2	1	3	2	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:33059966C>T	ENST00000307363.5	-	13	1465	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	GLB1_ENST00000399402.3_Missense_Mutation_p.D411N|GLB1_ENST00000307377.8_Missense_Mutation_p.D310N|GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000445488.2_Missense_Mutation_p.D489N	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	441			D -> N (in GM1G1).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TATGCTCGATCGTGGACTCCA	0.507													16	70					0	0	0	0	T	33059966	C	T	33059966	3	4	295	1	0	0	0	0	1	0	0	0	6478	884	31	1	728	1	GLB1	3	33059966	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	11353532	33059966	164962464	44	52663											
ARPP21	10777	broad.mit.edu	37	chr3	35833960	35833960	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtcagaacgtgataaatAaccaacaaggaactccggtg	17	6	10	8	2	1	3	1	1	0	2	2	4	2	4	2	2	4	0	2	2	7	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:35833960A>T	ENST00000187397.4	+	19	2575	c.2119A>T	c.(2119-2121)Aac>Tac	p.N707Y	ARPP21_ENST00000417925.1_Missense_Mutation_p.N708Y|ARPP21_ENST00000337271.5_Missense_Mutation_p.N688Y|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Missense_Mutation_p.N708Y|ARPP21_ENST00000444190.1_Missense_Mutation_p.N688Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	707	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CGTGATAAATAACCAACAAGG	0.463													33	61					0	0	0	0	T	35833960	A	T	35833960	3	4	295	1	0	0	0	0	1	0	0	0	982	362	13	5	2198	5	ARPP21	3	35833960	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	2773994	35833960	162188470	45	52664											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37033930	37033930	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acactgaaatgatgagtcagGttgattatggtcagaagatc	14	11	11	5	0	2	6	2	4	0	2	3	6	2	6	0	2	0	1	0	2	3	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:37033930G>A	ENST00000322716.5	-	1	865	c.639C>T	c.(637-639)aaC>aaT	p.N213N		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	213						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GATGAGTCAGGTTGATTATGG	0.517													6	97					0	0	0	0	A	37033930	G	A	37033930	2	1	295	1	0	0	0	0	0	0	0	1	5222	1252	44	4		4	EPM2AIP1	3	37033930	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	1199970	37033930	160988500	46	52665											
CTNNB1	1499	broad.mit.edu	37	chr3	41267196	41267196	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccattacaactctccaCaaccttttattacatcaaga	14	13	2	12	0	2	1	1	0	1	1	3	1	2	1	3	0	5	0	3	0	7	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:41267196C>T	ENST00000349496.5	+	6	1060	c.780C>T	c.(778-780)caC>caT	p.H260H	CTNNB1_ENST00000396183.3_Silent_p.H260H|CTNNB1_ENST00000405570.1_Silent_p.H260H|CTNNB1_ENST00000396185.3_Silent_p.H260H|CTNNB1_ENST00000453024.1_Silent_p.H253H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	260					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CAACTCTCCACAACCTTTTAT	0.383		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				54	37					0	0	0	0	T	41267196	C	T	41267196	2	4	295	1	0	0	0	0	0	0	0	1	4048	477	17	4		4	CTNNB1	3	41267196	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	4233266	41267196	156755234	47	52666											
CDCP1	64866	broad.mit.edu	37	chr3	45127378	45127378	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtccacctctggctgcaGgaaggagccgctggaatcct	7	8	14	12	1	1	0	0	0	1	0	3	3	3	3	4	5	2	3	4	5	2	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:45127378G>A	ENST00000296129.1	-	9	2397	c.2263C>T	c.(2263-2265)Ctg>Ttg	p.L755L		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	755						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCTGGCTGCAGGAAGGAGCCG	0.577													71	41					0	0	0	0	A	45127378	G	A	45127378	2	1	295	1	0	0	0	0	0	0	0	1	3122	991	35	4		4	CDCP1	3	45127378	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	3860182	45127378	152895052	48	52667											
PBRM1	55193	broad.mit.edu	37	chr3	52637658	52637658	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgagtgccggtgaaagAagaatctctccatttttgca	11	12	10	8	1	1	4	0	2	1	2	3	4	2	4	2	1	3	2	2	1	4	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:52637658A>G	ENST00000356770.4	-	16	2564	c.2562T>C	c.(2560-2562)ctT>ctC	p.L854L	PBRM1_ENST00000409114.3_Silent_p.L901L|PBRM1_ENST00000410007.1_Silent_p.L886L|PBRM1_ENST00000409057.1_Silent_p.L886L|PBRM1_ENST00000394830.3_Silent_p.L886L|PBRM1_ENST00000337303.4_Silent_p.L886L|PBRM1_ENST00000296302.7_Silent_p.L886L|PBRM1_ENST00000409767.1_Silent_p.L901L			Q86U86	PB1_HUMAN	polybromo 1	886	Bromo 6.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCGGTGAAAGAAGAATCTCTC	0.343			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								9	29					0	0	0	0	G	52637658	A	G	52637658	2	3	295	1	0	0	0	0	0	0	0	1	11562	233	9	5		5	PBRM1	3	52637658	Silent	SNP	A	TCGA-CV-7250-01A-11D-2012-08	7510280	52637658	145384772	49	52668											
NEK4	6787	broad.mit.edu	37	chr3	52778296	52778297	+	Frame_Shift_Del	DEL	CT	CT	-																															gtgactgctttagtcgcctcCtctctctggctgataatggt																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:52778296_52778297delCT	ENST00000233027.5	-	11	2054_2055	c.1852_1853delAG	c.(1852-1854)gfs	p.R620fs	NEK4_ENST00000383721.4_Frame_Shift_Del_p.R574fs|NEK4_ENST00000535191.1_Frame_Shift_Del_p.R531fs	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	620					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TAGTCGCCTCCTCTCTCTGGCT	0.406													52	151	---	---	---	---					-	52778297	CT	-	52778296	7	5	295	1	0	1	0	1	0	0	0	0	10396	681	24	0	696	0	NEK4	3	52778296	Frame_Shift_Del	DEL	CT	TCGA-CV-7250-01A-11D-2012-08	140638	52778296	145244134	50	52669											
DZIP3	9666	broad.mit.edu	37	chr3	108353773	108353773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttatttccataaaatttGctggaaaaagttcaagaatt	15	16	6	4	0	1	1	1	0	0	1	2	2	2	2	1	1	1	3	1	1	7	7			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:108353773G>T	ENST00000361582.3	+	10	1102	c.872G>T	c.(871-873)tGc>tTc	p.C291F	DZIP3_ENST00000463306.1_Missense_Mutation_p.C291F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	291					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CATAAAATTTGCTGGAAAAAG	0.313													17	60					3.51602e-12	1.4969e-11	1	0	T	108353773	G	T	108353773	3	4	295	1	0	0	0	0	1	0	0	0	4901	1319	46	4	906	4	DZIP3	3	108353773	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	55575477	108353773	89668657	51	52670											
PLXND1	23129	broad.mit.edu	37	chr3	129303021	129303021	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgtagatggtgaaattGgccttgacgatgttccgccc	8	11	12	10	3	0	3	0	2	0	1	2	4	1	3	3	2	0	2	3	2	2	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:129303021G>A	ENST00000393239.1	-	7	2263	c.2085C>T	c.(2083-2085)gcC>gcT	p.A695A	PLXND1_ENST00000324093.4_Silent_p.A695A			Q9Y4D7	PLXD1_HUMAN	plexin D1	695					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGTGAAATTGGCCTTGACGA	0.597													5	6					0	0	0	0	A	129303021	G	A	129303021	2	1	295	1	0	0	0	0	0	0	0	1	12199	1335	47	4		4	PLXND1	3	129303021	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	20949248	129303021	68719409	52	52671											
COL6A6	131873	broad.mit.edu	37	chr3	130380825	130380825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaacaactaaatggagatGcttttattggtcatgcctta	13	15	7	6	0	1	1	1	0	0	1	1	2	1	1	1	2	4	1	1	2	7	6			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:130380825G>T	ENST00000358511.6	+	34	6206	c.6175G>T	c.(6175-6177)Gct>Tct	p.A2059S	COL6A6_ENST00000453409.2_Missense_Mutation_p.A2059S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2059	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAATGGAGATGCTTTTATTGG	0.413													14	42					3.27435e-08	1.33758e-07	1	0	T	130380825	G	T	130380825	3	4	295	1	0	0	0	0	1	0	0	0	3733	1319	46	4	6309	4	COL6A6	3	130380825	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	1077804	130380825	67641605	53	52672											
MME	4311	broad.mit.edu	37	chr3	154834497	154834497	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacctctactcaaactgttaCcagacatatatgggtggcca	13	10	7	11	0	2	1	1	0	1	1	2	1	2	1	3	2	4	1	3	2	6	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:154834497C>G	ENST00000460393.1	+	6	604	c.484C>G	c.(484-486)Cca>Gca	p.P162A	MME_ENST00000493237.1_Missense_Mutation_p.P162A|MME_ENST00000462745.1_Missense_Mutation_p.P162A|MME_ENST00000492661.1_Missense_Mutation_p.P162A|MME_ENST00000360490.2_Missense_Mutation_p.P162A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	162					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CAAACTGTTACCAGACATATA	0.363													7	45					0	0	0	0	G	154834497	C	G	154834497	3	3	295	1	0	0	0	0	1	0	0	0	9714	507	18	4	502	4	MME	3	154834497	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	24453672	154834497	43187933	54	52673											
SI	6476	broad.mit.edu	37	chr3	164727122	164727122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaagtccacaatttctctgGcccaccactctgctgtggaa	11	10	7	13	0	2	0	0	0	2	0	4	1	3	1	3	2	1	1	3	2	4	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:164727122G>T	ENST00000264382.3	-	35	4186	c.4124C>A	c.(4123-4125)gCc>gAc	p.A1375D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1375	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AATTTCTCTGGCCCACCACTC	0.383										HNSCC(35;0.089)			18	57					1.45105e-14	6.31082e-14	1	0	T	164727122	G	T	164727122	3	4	295	1	0	0	0	0	1	0	0	0	14385	1203	42	4	1415	4	SI	3	164727122	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	9892625	164727122	33295308	55	52674											
SLC2A2	6514	broad.mit.edu	37	chr3	170723243	170723243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttggtgacatcatcatatCctctgagtcttttcaagcct	8	16	6	11	0	5	2	3	2	2	0	6	2	6	2	2	1	1	0	2	1	2	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:170723243C>T	ENST00000314251.3	-	7	873	c.794G>A	c.(793-795)gGa>gAa	p.G265E	SLC2A2_ENST00000382808.4_Missense_Mutation_p.G146E	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	265					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ATCATCATATCCTCTGAGTCT	0.343													26	58					0	0	0	0	T	170723243	C	T	170723243	3	4	295	1	0	0	0	0	1	0	0	0	14632	855	30	2	800	2	SLC2A2	3	170723243	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	5996121	170723243	27299187	56	52675											
GHSR	2693	broad.mit.edu	37	chr3	172165726	172165726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgaagatgaccagcttcaCccgccccttggtgaccacca	10	6	9	16	2	1	3	1	2	0	1	1	5	1	3	6	1	1	1	6	1	1	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:172165726C>T	ENST00000241256.2	-	1	520	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	GHSR_ENST00000427970.1_Missense_Mutation_p.V160M	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	160					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACCAGCTTCACCCGCCCCTTG	0.652													6	53					0	0	0	0	T	172165726	C	T	172165726	3	4	295	1	0	0	0	0	1	0	0	0	6426	507	18	4	704	4	GHSR	3	172165726	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	1442483	172165726	25856704	57	52676											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	62					0	0	0	0	A	178936091	G	A	178936091	3	1	295	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	6770365	178936091	19086339	58	52677											
CCDC50	152137	broad.mit.edu	37	chr3	191093190	191093190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagattaaccatcagactcGaaattgggaaaaacagtctc	17	9	7	8	1	2	2	1	0	1	2	4	4	2	3	1	1	2	0	1	1	5	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:191093190G>A	ENST00000392456.3	+	6	1378	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	CCDC50_ENST00000392455.3_Intron	NM_178335.2	NP_848018.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	283						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		CATCAGACTCGAAATTGGGAA	0.488													13	33					0	0	0	0	A	191093190	G	A	191093190	3	1	295	1	0	0	0	0	1	0	0	0	2847	1058	37	1	810	1	CCDC50	3	191093190	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	12157099	191093190	6929240	59	52678											
ATP13A4	84239	broad.mit.edu	37	chr3	193156328	193156328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaggtgaggccacagatgCctcctgctctgataatgaga	12	8	12	9	0	1	4	0	3	1	2	2	6	2	4	3	2	2	1	3	2	2	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:193156328C>G	ENST00000342695.4	-	23	2930	c.2608G>C	c.(2608-2610)Gca>Cca	p.A870P	ATP13A4_ENST00000392443.3_Missense_Mutation_p.A851P	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	870					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCCACAGATGCCTCCTGCTCT	0.443													25	30					0	0	0	0	G	193156328	C	G	193156328	3	3	295	1	0	0	0	0	1	0	0	0	1130	739	26	4	1014	4	ATP13A4	3	193156328	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	2063138	193156328	4866102	60	52679											
LGI2	55203	broad.mit.edu	37	chr4	25013978	25013978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatgttgtcatagctccGgaaattcatttcaatgtggt	10	16	9	6	1	3	0	3	0	0	0	4	1	4	1	1	2	1	3	1	2	4	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:25013978G>A	ENST00000382114.4	-	7	984	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	267						extracellular region		p.R267W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCATAGCTCCGGAAATTCATT	0.507													7	103					0	0	0	0	A	25013978	G	A	25013978	3	1	295	1	0	0	0	0	1	0	0	0	8806	1115	39	1	846	1	LGI2	4	25013978	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08		25013978	166140298	61	52680											
SULT1B1	27284	broad.mit.edu	37	chr4	70620403	70620403	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacctgatgttcttaatcCagggagagtcatttccaaca	11	14	7	9	0	2	2	1	1	1	1	4	3	4	2	3	1	2	1	3	1	3	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:70620403C>A	ENST00000310613.2	-	3	559	c.262G>T	c.(262-264)Gga>Tga	p.G88*		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	88					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTTCTTAATCCAGGGAGAGTC	0.299													28	70					9.65021e-13	4.16114e-12	1	0	A	70620403	C	A	70620403	4	1	295	1	0	0	0	0	0	1	0	0	15466	603	21	4	652	4	SULT1B1	4	70620403	Nonsense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	45606425	70620403	120533873	62	52681											
PTPN13	5783	broad.mit.edu	37	chr4	87703369	87703369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcaggttcctacagtgtggGgtcttgcagccagcctgccc	5	11	12	13	0	2	0	1	0	1	0	3	0	3	0	4	3	5	2	4	3	1	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:87703369G>A	ENST00000436978.1	+	37	6473	c.5993G>A	c.(5992-5994)gGg>gAg	p.G1998E	PTPN13_ENST00000427191.2_Missense_Mutation_p.G1974E|PTPN13_ENST00000411767.2_Missense_Mutation_p.G1993E|PTPN13_ENST00000511467.1_Missense_Mutation_p.G1998E|PTPN13_ENST00000316707.6_Missense_Mutation_p.G1802E	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1993						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TACAGTGTGGGGTCTTGCAGC	0.443													9	85					0	0	0	0	A	87703369	G	A	87703369	3	1	295	1	0	0	0	0	1	0	0	0	12862	1232	43	4	6135	4	PTPN13	4	87703369	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	17082966	87703369	103450907	63	52682											
HSPA4L	22824	broad.mit.edu	37	chr4	128732697	128732697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttcagtgtggctagcgCatcagtaattgagaagcaaa	14	10	10	7	1	3	1	2	1	1	1	3	2	3	1	0	1	2	4	0	1	5	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:128732697C>T	ENST00000296464.3	+	12	1895	c.1484C>T	c.(1483-1485)gCa>gTa	p.A495V	HSPA4L_ENST00000508776.1_Missense_Mutation_p.A495V|HSPA4L_ENST00000505726.1_Missense_Mutation_p.A469V|HSPA4L_ENST00000439123.2_Missense_Mutation_p.A526V	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	495					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GTGGCTAGCGCATCAGTAATT	0.368													8	26					0	0	0	0	T	128732697	C	T	128732697	3	4	295	1	0	0	0	0	1	0	0	0	7465	710	25	4	1530	4	HSPA4L	4	128732697	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	41029328	128732697	62421579	64	52683											
NAA15	80155	broad.mit.edu	37	chr4	140309172	140309172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcctcctggatatgaagaGgatatgaagatcacagttaa	15	10	10	6	0	1	4	1	2	0	2	2	6	2	6	2	2	1	1	2	2	5	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:140309172G>A	ENST00000296543.5	+	20	2858	c.2535G>A	c.(2533-2535)gaG>gaA	p.E845E	NAA15_ENST00000398947.1_Silent_p.E844E|NAA15_ENST00000515576.1_Intron	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	845					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GATATGAAGAGGATATGAAGA	0.388													13	25					0	0	0	0	A	140309172	G	A	140309172	2	1	295	1	0	0	0	0	0	0	0	1	10188	991	35	4		4	NAA15	4	140309172	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	11576475	140309172	50845104	65	52684											
PDGFC	56034	broad.mit.edu	37	chr4	157689065	157689065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcggttctctttagttcttCccttatggacactgagaagt	8	16	8	9	1	2	1	0	1	2	1	5	3	3	2	1	2	0	2	1	2	3	6	rs141820181		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:157689065C>T	ENST00000502773.1	-	5	1271	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000542208.1_Missense_Mutation_p.E106K|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000541126.1_Missense_Mutation_p.E98K	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	261					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	p.E261K(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TTTAGTTCTTCCCTTATGGAC	0.438													38	90					0	0	0	0	T	157689065	C	T	157689065	3	4	295	1	0	0	0	0	1	0	0	0	11730	864	30	2	264	2	PDGFC	4	157689065	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	17379893	157689065	33465211	66	52685											
ING2	3622	broad.mit.edu	37	chr4	184432021	184432021	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tataaaccaaaggggaaatgGtattgcccaaagtgcagggg	15	7	13	6	0	0	0	0	0	0	0	0	1	0	1	2	5	3	2	2	5	7	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:184432021G>C	ENST00000302327.3	+	2	961	c.759G>C	c.(757-759)tgG>tgC	p.W253C	ING2_ENST00000434682.2_Missense_Mutation_p.W213C	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	253					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	p.W253C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGGGGAAATGGTATTGCCCAA	0.388													4	30					0	0	0	0	C	184432021	G	C	184432021	3	2	295	1	0	0	0	0	1	0	0	0	7789	1270	44	4	765	4	ING2	4	184432021	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	26742956	184432021	6722255	67	52686											
FAT1	2195	broad.mit.edu	37	chr4	187557355	187557355	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatggagtctggtggttgatGacttttgagggcgaccattg	7	14	15	5	1	1	3	0	3	1	0	1	5	1	4	1	4	0	1	1	4	1	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:187557355G>C	ENST00000441802.2	-	6	4216	c.4007C>G	c.(4006-4008)tCa>tGa	p.S1336*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1336	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTGGTTGATGACTTTTGAGG	0.418										HNSCC(5;0.00058)			15	36					0	0	0	0	C	187557355	G	C	187557355	4	2	295	1	0	0	0	0	0	1	0	0	5734	1294	45	2	9847	2	FAT1	4	187557355	Nonsense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	3125334	187557355	3596921	68	52687											
CDH9	1007	broad.mit.edu	37	chr5	26903930	26903930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggagaattaaattgatacGtacctataaattaagtaaga	19	11	7	4	1	0	3	0	1	0	2	0	4	0	3	1	1	2	2	1	1	10	8			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:26903930G>A	ENST00000231021.4	-	6	987	c.815C>T	c.(814-816)aCg>aTg	p.T272M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	272	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AAATTGATACGTACCTATAAA	0.318													7	28					0	0	0	0	A	26903930	G	A	26903930	3	1	295	1	0	0	0	0	1	0	0	0	3146	1145	40	1	1582	1	CDH9	5	26903930	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08		26903930	154011330	69	52688											
NAIP	4671	broad.mit.edu	37	chr5	70308342	70308342	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatgtcgtacttggcaatgTtaccaacatccttgttcaaa	11	15	6	9	1	1	0	1	0	0	0	3	0	2	0	2	1	3	4	2	1	6	6			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:70308342T>C	ENST00000517649.1	-	4	691	c.401A>G	c.(400-402)aAc>aGc	p.N134S	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.N134S|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.N134S	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	134					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTTGGCAATGTTACCAACATC	0.488													36	126					0	0	0	0	C	70308342	T	C	70308342	3	2	295	1	0	0	0	0	1	0	0	0	10217	1725	60	5	3866	5	NAIP	5	70308342	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	43404412	70308342	110606918	70	52689											
FCHO2	115548	broad.mit.edu	37	chr5	72313079	72313086	+	Frame_Shift_Del	DEL	TTGAAAGT	TTGAAAGT	-																															taacatggctaatactacagTtgaaagtttgatacaaaaat																								rs143520046	by1000genomes	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:72313079_72313086delTTGAAAGT	ENST00000430046.2	+	8	856_863	c.740_747delTTGAAAGT	c.(739-747)gfs	p.VES247fs	FCHO2_ENST00000341845.6_Frame_Shift_Del_p.VES247fs|FCHO2_ENST00000287761.6_Frame_Shift_Del_p.VES247fs|FCHO2_ENST00000512348.1_Frame_Shift_Del_p.VES214fs	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	247										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AATACTACAGTTGAAAGTTTGATACAAA	0.293													4	3	---	---	---	---					-	72313086	TTGAAAGT	-	72313079	7	5	295	1	0	1	0	1	0	0	0	0	5833	1725	60	0	770	0	FCHO2	5	72313079	Frame_Shift_Del	DEL	TTGAAAGT	TCGA-CV-7250-01A-11D-2012-08	2004737	72313079	108602181	71	52690											
NSA2	10412	broad.mit.edu	37	chr5	74064792	74064792	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaattacaccgtaaacgcTatggataccgtttggattac	12	13	8	8	3	0	1	0	1	0	0	0	3	0	3	2	2	4	3	2	2	7	7			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:74064792T>A	ENST00000296802.5	+	2	409	c.40T>A	c.(40-42)Tat>Aat	p.Y14N	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	14					rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						CCGTAAACGCTATGGATACCG	0.328													5	9					0	0	0	0	A	74064792	T	A	74064792	3	1	295	1	0	0	0	0	1	0	0	0	10739	1522	53	5	46	5	NSA2	5	74064792	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	1751713	74064792	106850468	72	52691											
LIX1	167410	broad.mit.edu	37	chr5	96478236	96478236	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccggatctctgtgaggcaaGacttgggcaatgatgtgtct	8	11	14	8	1	2	3	0	2	2	1	3	4	2	4	1	3	0	2	1	3	2	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:96478236G>A	ENST00000274382.4	-	1	340	c.45C>T	c.(43-45)gtC>gtT	p.V15V	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	15										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TGTGAGGCAAGACTTGGGCAA	0.453													6	55					0	0	0	0	A	96478236	G	A	96478236	2	1	295	1	0	0	0	0	0	0	0	1	8886	929	33	2		2	LIX1	5	96478236	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	22413444	96478236	84437024	73	52692											
PGGT1B	5229	broad.mit.edu	37	chr5	114588910	114588910	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccacatctaaggaatcCaacatatccagcccggagag	14	7	7	13	1	2	1	1	0	1	1	4	3	4	2	4	2	2	0	4	2	4	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:114588910C>T	ENST00000419445.1	-	2	203	c.183G>A	c.(181-183)ttG>ttA	p.L61L	PGGT1B_ENST00000379615.3_Silent_p.L61L	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	61					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	CTAAGGAATCCAACATATCCA	0.363													11	50					0	0	0	0	T	114588910	C	T	114588910	2	4	295	1	0	0	0	0	0	0	0	1	11861	593	21	4		4	PGGT1B	5	114588910	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	18110674	114588910	66326350	74	52693											
ZNF608	57507	broad.mit.edu	37	chr5	123983042	123983042	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcaggggcaccgacctgcCcagggtgcatgtaacttgga	8	7	14	12	1	0	0	0	0	0	0	0	2	0	1	3	4	4	4	3	4	1	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:123983042C>A	ENST00000306315.5	-	4	3470	c.3035G>T	c.(3034-3036)gGg>gTg	p.G1012V	ZNF608_ENST00000504926.1_Missense_Mutation_p.G585V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1012						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ACCGACCTGCCCAGGGTGCAT	0.473													46	94					8.20599e-20	3.74653e-19	1	0	A	123983042	C	A	123983042	3	1	295	1	0	0	0	0	1	0	0	0	18129	623	22	4	1527	4	ZNF608	5	123983042	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	9394132	123983042	56932218	75	52694											
SLC27A6	28965	broad.mit.edu	37	chr5	128351596	128351596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagaaggagaaaaggatCataaggtgcgtttggcaatt	16	8	14	3	1	1	3	1	0	0	3	1	6	1	4	0	4	1	2	0	4	5	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:128351596C>A	ENST00000262462.4	+	5	1998	c.988C>A	c.(988-990)Cat>Aat	p.H330N	SLC27A6_ENST00000395266.1_Missense_Mutation_p.H330N|SLC27A6_ENST00000506176.1_Missense_Mutation_p.H330N			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	330					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGAAAAGGATCATAAGGTGCG	0.308													11	30					3.86212e-05	0.000147609	1	0	A	128351596	C	A	128351596	3	1	295	1	0	0	0	0	1	0	0	0	14618	826	29	2	1006	2	SLC27A6	5	128351596	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	4368554	128351596	52563664	76	52695											
IL4	3565	broad.mit.edu	37	chr5	132015436	132015436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaggaaaccttctgcaggGctgcgactgtgctccggcag	9	7	14	11	2	1	1	0	0	1	1	2	3	2	2	2	3	4	4	2	3	2	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:132015436G>A	ENST00000231449.2	+	3	279	c.214G>A	c.(214-216)Gct>Act	p.A72T	IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Missense_Mutation_p.A56T	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	72					B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CTTCTGCAGGGCTGCGACTGT	0.542													63	124					0	0	0	0	A	132015436	G	A	132015436	3	1	295	1	0	0	0	0	1	0	0	0	7749	1203	42	4	224	4	IL4	5	132015436	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	3663840	132015436	48899824	77	52696											
PCDHA5	56143	broad.mit.edu	37	chr5	140202653	140202653	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcgcgggacgggggctcGccttcgctgtgggccaccgc	3	5	17	16	7	0	0	0	0	0	0	2	1	0	1	4	4	0	2	4	4	0	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140202653G>A	ENST00000529859.1	+	1	1293	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.S431S|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.S431S	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCGCTGT	0.647													12	150					0	0	0	0	A	140202653	G	A	140202653	2	1	295	1	0	0	0	0	0	0	0	1	11598	1074	38	1		1	PCDHA5	5	140202653	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	8187217	140202653	40712607	78	52697											
PCDHA8	56140	broad.mit.edu	37	chr5	140222342	140222342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacatcttcacggtgtctgCgcgagacgcggacgcgcagg	7	6	14	14	7	3	1	1	0	2	1	3	3	3	2	1	3	1	1	1	3	0	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140222342C>T	ENST00000531613.1	+	1	1436	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A479V	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGTGTCTGCGCGAGACGCG	0.657													32	18					0	0	0	0	T	140222342	C	T	140222342	3	4	295	1	0	0	0	0	1	0	0	0	11601	768	27	1	1438	1	PCDHA8	5	140222342	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	19689	140222342	40692918	79	52698											
PCDHA13	56136	broad.mit.edu	37	chr5	140262926	140262926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catcacttctttgtcactccCcatcagagaagacactcagc	11	10	5	15	0	5	2	4	0	1	2	6	3	6	2	2	0	1	0	2	0	1	2	rs144000682	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140262926C>T	ENST00000289272.2	+	1	1073	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P358L|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTCACTCCCCATCAGAGAA	0.488													23	57					0	0	0	0	T	140262926	C	T	140262926	3	4	295	1	0	0	0	0	1	0	0	0	11594	623	22	4	1075	4	PCDHA13	5	140262926	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	40584	140262926	40652334	80	52699											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731974	140731974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctgcgacgttcctccaGcctcgacactgagggctgct	5	8	12	16	4	0	1	0	1	0	0	3	3	2	1	4	1	3	3	4	1	0	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140731974G>T	ENST00000523390.1	+	1	2147	c.2147G>T	c.(2146-2148)aGc>aTc	p.S716I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTCCTCCAGCCTCGACACT	0.582													15	147					1.52009e-12	6.49903e-12	1	0	T	140731974	G	T	140731974	3	4	295	1	0	0	0	0	1	0	0	0	11633	971	34	4	2149	4	PCDHGB1	5	140731974	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	469048	140731974	40183286	81	52700											
FAM71B	153745	broad.mit.edu	37	chr5	156590090	156590090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggtggagatgaggggtcCcactgctggtccttcagttc	7	10	14	10	0	1	2	1	1	0	1	4	3	3	2	2	5	1	2	2	5	1	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:156590090C>G	ENST00000302938.4	-	2	1281	c.1186G>C	c.(1186-1188)Gga>Cga	p.G396R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	396						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGAGGGGTCCCACTGCTGGT	0.537													25	34					0	0	0	0	G	156590090	C	G	156590090	3	3	295	1	0	0	0	0	1	0	0	0	5654	632	22	4	635	4	FAM71B	5	156590090	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	15858116	156590090	24325170	82	52701											
GABRA6	2559	broad.mit.edu	37	chr5	161128536	161128536	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaatatcatctgaagaaaagGatcacttctctgtctttgcc	13	13	6	9	0	5	2	2	1	3	1	6	3	5	3	1	1	1	0	1	1	5	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:161128536G>A	ENST00000523217.1	+	9	1331	c.1089G>A	c.(1087-1089)agG>agA	p.R363R	GABRA6_ENST00000274545.5_Silent_p.R373R	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	373					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAAGAAAAGGATCACTTCTC	0.398										TCGA Ovarian(5;0.080)			22	62					0	0	0	0	A	161128536	G	A	161128536	2	1	295	1	0	0	0	0	0	0	0	1	6213	1165	41	2		2	GABRA6	5	161128536	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	4538446	161128536	19786724	83	52702											
CDHR2	54825	broad.mit.edu	37	chr5	175995964	175995965	+	Frame_Shift_Del	DEL	CT	CT	-																															ctctctggctgctgcagacaCtctacacattcaaagtcacc																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:175995964_175995965delCT	ENST00000510636.1	+	5	542_543	c.268_269delCT	c.(268-270)cfs	p.L90fs	CDHR2_ENST00000506348.1_Frame_Shift_Del_p.L90fs|CDHR2_ENST00000261944.5_Frame_Shift_Del_p.L90fs	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	90	Cadherin 1.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCTGCAGACACTCTACACATTC	0.644													18	44	---	---	---	---					-	175995965	CT	-	175995964	7	5	295	1	0	1	0	1	0	0	0	0	3148	565	20	0	282	0	CDHR2	5	175995964	Frame_Shift_Del	DEL	CT	TCGA-CV-7250-01A-11D-2012-08	14867428	175995964	4919296	84	52703											
FGFR4	2264	broad.mit.edu	37	chr5	176517973	176517973	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacccccagcgcatggagaaGaaactgcatgcagtacctgc	12	5	10	14	1	0	2	0	0	0	2	0	3	0	2	3	1	6	4	3	1	3	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:176517973G>C	ENST00000292408.4	+	5	716	c.471G>C	c.(469-471)aaG>aaC	p.K157N	FGFR4_ENST00000502906.1_Missense_Mutation_p.K157N|FGFR4_ENST00000393648.2_Missense_Mutation_p.K157N|FGFR4_ENST00000393637.1_Missense_Mutation_p.K157N|FGFR4_ENST00000292410.3_Missense_Mutation_p.K157N	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	157	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCATGGAGAAGAAACTGCATG	0.612										TSP Lung(9;0.080)			5	48					0	0	0	0	C	176517973	G	C	176517973	3	2	295	1	0	0	0	0	1	0	0	0	5913	933	33	2	485	2	FGFR4	5	176517973	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	522009	176517973	4397287	85	52704											
NSD1	64324	broad.mit.edu	37	chr5	176665392	176665392	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggccccttggctcagtCagaacttggaggtggacatg	8	8	16	9	0	2	1	2	0	0	1	2	4	2	4	2	6	1	1	2	6	1	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:176665392C>A	ENST00000439151.2	+	7	4121	c.4076C>A	c.(4075-4077)tCa>tAa	p.S1359*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.S1256*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S1090*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.S1090*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1359					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTGGCTCAGTCAGAACTTGGA	0.542			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			78	34					1.03218e-28	4.75559e-28	1	0	A	176665392	C	A	176665392	4	1	295	1	0	0	0	0	0	1	0	0	10740	838	29	2	4098	2	NSD1	5	176665392	Nonsense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	147419	176665392	4249868	86	52705											
N4BP3	23138	broad.mit.edu	37	chr5	177548532	177548532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagctgcgtgaagcccagGcggaactggcccagaagctg	10	4	15	12	2	0	2	0	1	0	1	0	3	0	3	2	3	6	3	2	3	3	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:177548532G>A	ENST00000274605.5	+	5	1524	c.1165G>A	c.(1165-1167)Gcg>Acg	p.A389T		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	389						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGCCCAGGCGGAACTGGC	0.622													47	90					0	0	0	0	A	177548532	G	A	177548532	3	1	295	1	0	0	0	0	1	0	0	0	10183	1203	42	4	1179	4	N4BP3	5	177548532	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	883140	177548532	3366728	87	52706											
MGAT4B	11282	broad.mit.edu	37	chr5	179228834	179228837	+	Frame_Shift_Del	DEL	CTTT	CTTT	-																															ctccgtctcgcagcgcctgcCtttctgacacggccctcttg																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:179228834_179228837delCTTT	ENST00000337755.5	-	1	1161_1164	c.275_278delAAAG	c.(274-279)ggfs	p.ER92fs	MGAT4B_ENST00000292591.7_Frame_Shift_Del_p.ER77fs|MGAT4B_ENST00000521305.1_5'UTR	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	77					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGCCTGCCTTTCTGACACGGC	0.667											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	31	---	---	---	---					-	179228837	CTTT	-	179228834	7	5	295	1	0	1	0	1	0	0	0	0	9615	681	24	0	1469	0	MGAT4B	5	179228834	Frame_Shift_Del	DEL	CTTT	TCGA-CV-7250-01A-11D-2012-08	1680302	179228834	1686426	88	52707											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216840	26216840	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttggaacccttcttcGgagcaggagctgacttagct	7	12	10	12	1	2	1	0	1	2	0	3	4	2	4	2	3	4	3	2	3	2	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:26216840G>C	ENST00000244601.3	-	1	32	c.32C>G	c.(31-33)cCg>cGg	p.P11R		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	11					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				ACCCTTCTTCGGAGCAGGAGC	0.493													10	113					0	0	0	0	C	26216840	G	C	26216840	3	2	295	1	0	0	0	0	1	0	0	0	7196	1116	39	3	352	3	HIST1H2BG	6	26216840	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08		26216840	144898227	89	52708											
CDSN	1041	broad.mit.edu	37	chr6	31084822	31084822	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagagctttgtccaggctgGgaagggtttagtattccgcg	8	11	15	7	2	0	1	0	0	0	1	2	3	2	2	2	3	1	4	2	3	4	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:31084822G>T	ENST00000376288.2	-	2	596	c.570C>A	c.(568-570)tcC>tcA	p.S190S	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	190	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GTCCAGGCTGGGAAGGGTTTA	0.557													38	36					3.62531e-18	1.61856e-17	1	0	T	31084822	G	T	31084822	2	4	295	1	0	0	0	0	0	0	0	1	3208	1219	43	4		4	CDSN	6	31084822	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	4867982	31084822	140030245	90	52709											
HSP90AB1	3326	broad.mit.edu	37	chr6	44217289	44217289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgggaaccattgccaagtCtggtactaaagcattcatgg	11	12	10	8	0	2	0	1	0	1	0	2	1	2	1	2	3	4	2	2	3	5	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:44217289C>T	ENST00000371554.1	+	3	537	c.323C>T	c.(322-324)tCt>tTt	p.S108F	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S108F|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S108F			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	108					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTGCCAAGTCTGGTACTAAA	0.418													9	59					0	0	0	0	T	44217289	C	T	44217289	3	4	295	1	0	0	0	0	1	0	0	0	7454	913	32	2	329	2	HSP90AB1	6	44217289	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	13132467	44217289	126897778	91	52710											
TINAG	27283	broad.mit.edu	37	chr6	54245333	54245333	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaattgtagatggggcacActgagaggagcacaagggca	14	7	14	6	0	0	2	0	1	0	2	0	4	0	3	0	4	1	4	0	4	3	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:54245333A>T	ENST00000259782.4	+	10	1356	c.1260A>T	c.(1258-1260)acA>acT	p.T420T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	420					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GATGGGGCACACTGAGAGGAG	0.358													4	11					0	0	0	0	T	54245333	A	T	54245333	2	4	295	1	0	0	0	0	0	0	0	1	16015	146	6	5		5	TINAG	6	54245333	Silent	SNP	A	TCGA-CV-7250-01A-11D-2012-08	10028044	54245333	116869734	92	52711											
LMBRD1	55788	broad.mit.edu	37	chr6	70428852	70428852	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaacatcaactcacttttGatttaatcgtttgaatgtgt	13	16	5	7	1	2	2	2	2	0	0	3	2	2	2	0	0	2	1	0	0	5	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:70428852G>C	ENST00000370577.3	-	8	987	c.758C>G	c.(757-759)tCa>tGa	p.S253*	LMBRD1_ENST00000370570.1_Nonsense_Mutation_p.S180*	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	253					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTCACTTTTGATTTAATCGT	0.353													5	23					0	0	0	0	C	70428852	G	C	70428852	4	2	295	1	0	0	0	0	0	1	0	0	8897	1294	45	2	900	2	LMBRD1	6	70428852	Nonsense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	16183519	70428852	100686215	93	52712											
SENP6	26054	broad.mit.edu	37	chr6	76344481	76344481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagttcatggtagacgttttCatcatgctcatgcacagata	11	14	8	8	1	4	2	4	0	0	2	4	2	4	2	0	1	2	5	0	1	3	6			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:76344481C>T	ENST00000370014.3	+	5	1031	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	SENP6_ENST00000370010.2_Missense_Mutation_p.H138Y|SENP6_ENST00000327284.8_Missense_Mutation_p.H138Y|SENP6_ENST00000447266.2_Missense_Mutation_p.H138Y	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	138					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TAGACGTTTTCATCATGCTCA	0.353													14	32					0	0	0	0	T	76344481	C	T	76344481	3	4	295	1	0	0	0	0	1	0	0	0	14137	826	29	2	430	2	SENP6	6	76344481	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	5915629	76344481	94770586	94	52713											
MDN1	23195	broad.mit.edu	37	chr6	90384310	90384310	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagctgaggaggttccTgtacagagaaacccatggga	13	6	12	10	0	0	2	0	1	0	1	1	5	1	4	2	3	3	3	2	3	2	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:90384310T>C	ENST00000369393.3	-	79	12877		c.e79-2		RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Splice_Site			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)						protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGAGGTTCCTGTACAGAGAA	0.507													13	32					0	0	0	0	C	90384310	T	C	90384310	5	2	295	1	0	0	0	0	0	0	1	0	9484	1594	55	5	4126	5	MDN1	6	90384310	Splice_Site	SNP	T	TCGA-CV-7250-01A-11D-2012-08	14039829	90384310	80730757	95	52714											
FUT9	10690	broad.mit.edu	37	chr6	96651512	96651512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactctgacttaccgccgtGattcagatatccaagtgcct	9	12	8	12	2	2	4	1	3	1	1	3	4	3	4	4	0	2	0	4	0	3	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:96651512G>T	ENST00000302103.5	+	3	807	c.481G>T	c.(481-483)Gat>Tat	p.D161Y		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	161					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.D161N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTACCGCCGTGATTCAGATAT	0.453													19	35					1.1804e-14	5.15593e-14	1	0	T	96651512	G	T	96651512	3	4	295	1	0	0	0	0	1	0	0	0	6159	1290	45	2	483	2	FUT9	6	96651512	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	6267202	96651512	74463555	96	52715											
FAM184A	79632	broad.mit.edu	37	chr6	119338093	119338093	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatattcttgctgagttctcTttgcttcatttactttctaa	8	21	4	8	0	4	1	1	1	3	0	5	1	4	1	0	0	3	3	0	0	4	10			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:119338093T>C	ENST00000338891.7	-	5	1792	c.1349A>G	c.(1348-1350)aAg>aGg	p.K450R	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.K330R|FAM184A_ENST00000521531.1_Missense_Mutation_p.K450R|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330R|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330R	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	450										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTGAGTTCTCTTTGCTTCATT	0.333													11	35					0	0	0	0	C	119338093	T	C	119338093	3	2	295	1	0	0	0	0	1	0	0	0	5553	1609	56	5	2129	5	FAM184A	6	119338093	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	22686581	119338093	51776974	97	52716											
KIAA1244	57221	broad.mit.edu	37	chr6	138566721	138566721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgagaagctgcaagccGccataaagtaagtgccctaa	13	8	11	9	1	0	1	0	1	0	1	0	2	0	1	3	0	4	3	3	0	6	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:138566721G>T	ENST00000251691.4	+	8	824	c.658G>T	c.(658-660)Gcc>Tcc	p.A220S		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	220					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)		GCTGCAAGCCGCCATAAAGTA	0.453													5	14					1.23904e-05	4.86456e-05	1	0	T	138566721	G	T	138566721	3	4	295	1	0	0	0	0	1	0	0	0	8268	1087	38	3	688	3	KIAA1244	6	138566721	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	19228628	138566721	32548346	98	52717											
SYNE1	23345	broad.mit.edu	37	chr6	152462343	152462343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctacgcactcaccagccGtttgggtttcggtactatgc	7	12	10	12	3	1	0	1	0	0	0	2	0	1	0	2	2	5	5	2	2	3	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:152462343G>A	ENST00000367255.5	-	139	25842	c.25241C>T	c.(25240-25242)aCg>aTg	p.T8414M	SYNE1_ENST00000354674.4_Missense_Mutation_p.T592M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8026M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2938M|SYNE1_ENST00000539504.1_Missense_Mutation_p.T569M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8414M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8414					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.T8414M(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCACCAGCCGTTTGGGTTTC	0.478										HNSCC(10;0.0054)			28	60					0	0	0	0	A	152462343	G	A	152462343	3	1	295	1	0	0	0	0	1	0	0	0	15536	1145	40	1	1184	1	SYNE1	6	152462343	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	13895622	152462343	18652724	99	52718											
TIAM2	26230	broad.mit.edu	37	chr6	155458488	155458488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcccctccggcagaacAtttatgagaatttcatgcga	11	10	9	11	3	1	2	1	1	0	2	3	5	3	2	3	1	2	1	3	1	3	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:155458488A>G	ENST00000461783.3	+	7	2645	c.1372A>G	c.(1372-1374)Att>Gtt	p.I458V	TIAM2_ENST00000360366.4_Missense_Mutation_p.I458V|TIAM2_ENST00000456144.1_Missense_Mutation_p.I458V|TIAM2_ENST00000318981.5_Missense_Mutation_p.I458V|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.I458V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	458					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCGGCAGAACATTTATGAGAA	0.507													38	76					0	0	0	0	G	155458488	A	G	155458488	3	3	295	1	0	0	0	0	1	0	0	0	15985	217	8	5	1378	5	TIAM2	6	155458488	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	2996145	155458488	15656579	100	52719											
PLG	5340	broad.mit.edu	37	chr6	161159606	161159606	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggaggcaccttgatatcCccagagtgggtgttgactgc	7	11	14	9	0	0	3	0	2	0	1	1	4	1	4	3	3	1	2	3	3	1	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:161159606C>T	ENST00000308192.9	+	15	1902	c.1839C>T	c.(1837-1839)tcC>tcT	p.S613S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	613	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCTTGATATCCCCAGAGTGGG	0.403													30	60					0	0	0	0	T	161159606	C	T	161159606	2	4	295	1	0	0	0	0	0	0	0	1	12158	610	22	4		4	PLG	6	161159606	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	5701118	161159606	9955461	101	52720											
SDK1	221935	broad.mit.edu	37	chr7	4185403	4185403	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcccccacaccttcacCaccgtggaggtcggcgccac	8	4	10	19	3	1	0	1	0	0	0	2	1	1	1	6	3	2	1	6	3	0	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:4185403C>A	ENST00000404826.2	+	29	4417	c.4278C>A	c.(4276-4278)acC>acA	p.T1426T	SDK1_ENST00000389531.3_Silent_p.T1426T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1426	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACACCTTCACCACCGTGGAGG	0.657													9	60					1.76689e-08	7.24714e-08	1	0	A	4185403	C	A	4185403	2	1	295	1	0	0	0	0	0	0	0	1	14055	581	21	4		4	SDK1	7	4185403	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08		4185403	154953260	102	52721											
SCIN	85477	broad.mit.edu	37	chr7	12675756	12675756	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccttggaggacaggctgTgcaggttgggatatttttac	7	13	14	7	0	0	0	0	0	0	0	1	3	1	3	1	5	2	3	1	5	2	6			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:12675756T>C	ENST00000297029.5	+	10	1507	c.1406T>C	c.(1405-1407)gTg>gCg	p.V469A	SCIN_ENST00000445618.2_Missense_Mutation_p.V222A|SCIN_ENST00000519209.1_Missense_Mutation_p.V222A	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	469	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GGACAGGCTGTGCAGGTTGGG	0.468													4	8					0	0	0	0	C	12675756	T	C	12675756	3	2	295	1	0	0	0	0	1	0	0	0	13992	1696	59	5	1444	5	SCIN	7	12675756	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	8490353	12675756	146462907	103	52722											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31124410	31124410	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctacagcacatccctcgTcaccctcaccactgccatgg	8	8	7	18	1	2	0	2	0	0	0	4	0	3	0	4	2	3	2	4	2	1	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:31124410T>A	ENST00000304166.4	+	8	786	c.497T>A	c.(496-498)gTc>gAc	p.V166D	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V166D|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V145D|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V166D	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	166					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACATCCCTCGTCACCCTCACC	0.557													30	79					0	0	0	0	A	31124410	T	A	31124410	3	1	295	1	0	0	0	0	1	0	0	0	303	1667	58	5	523	5	ADCYAP1R1	7	31124410	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	18448654	31124410	128014253	104	52723											
GRB10	2887	broad.mit.edu	37	chr7	50682481	50682481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtacctttatgcagagccCgtggtctgtaggggcgttgt	5	12	16	8	2	1	1	0	0	1	1	1	1	1	1	2	4	3	4	2	4	3	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:50682481C>A	ENST00000403097.1	-	11	1843	c.1063G>T	c.(1063-1065)Ggg>Tgg	p.G355W	GRB10_ENST00000406641.1_Missense_Mutation_p.G303W|GRB10_ENST00000407526.1_Missense_Mutation_p.G303W|GRB10_ENST00000398812.2_Missense_Mutation_p.G361W|GRB10_ENST00000335866.3_Missense_Mutation_p.G303W|GRB10_ENST00000357271.5_Missense_Mutation_p.G315W|GRB10_ENST00000439599.1_Missense_Mutation_p.G355W|GRB10_ENST00000401949.1_Missense_Mutation_p.G361W|GRB10_ENST00000398810.2_Missense_Mutation_p.G303W|GRB10_ENST00000402578.1_Missense_Mutation_p.G303W|GRB10_ENST00000402497.1_Missense_Mutation_p.G303W			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	361	PH.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ATGCAGAGCCCGTGGTCTGTA	0.587									Russell-Silver syndrome				31	68					8.16721e-17	3.59856e-16	1	0	A	50682481	C	A	50682481	3	1	295	1	0	0	0	0	1	0	0	0	6806	652	23	3	735	3	GRB10	7	50682481	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	19558071	50682481	108456182	105	52724											
EGFR	1956	broad.mit.edu	37	chr7	55220295	55220295	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgtggcaagtcccccAgtgactgctgccacaaccag	8	6	11	16	1	0	1	0	1	0	0	1	1	1	1	5	1	4	3	5	1	2	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:55220295A>T	ENST00000275493.2	+	6	862	c.685A>T	c.(685-687)Agt>Tgt	p.S229C	EGFR_ENST00000344576.2_Missense_Mutation_p.S229C|EGFR_ENST00000454757.2_Missense_Mutation_p.S176C|EGFR_ENST00000342916.3_Missense_Mutation_p.S229C|EGFR_ENST00000455089.1_Missense_Mutation_p.S184C|EGFR_ENST00000420316.2_Missense_Mutation_p.S229C|EGFR_ENST00000442591.1_Missense_Mutation_p.S229C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	229					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAAGTCCCCCAGTGACTGCTG	0.617		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			56	85					0	0	0	0	T	55220295	A	T	55220295	3	4	295	1	0	0	0	0	1	0	0	0	5003	188	7	5	707	5	EGFR	7	55220295	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	4537814	55220295	103918368	106	52725											
PHKG1	5260	broad.mit.edu	37	chr7	62693694	62693694	+	RNA	DEL	C	C	-																															gcggagaagctgggctgcagCccccgccctgccaggccctg																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:62693694delC	ENST00000451381.1	-	0	181																											TGGGCTGCAGCCCCCGCCCTG	0.657													2	4	---	---	---	---					-	62693694	C	-	62693694	6	5	295	0	1	1	0	1	0	0	0	0	11918	754	26	0		0	PHKG1	7	62693694	RNA	DEL	C	TCGA-CV-7250-01A-11D-2012-08	7473399	62693694	96444969	107	52726											
GRM3	2913	broad.mit.edu	37	chr7	86394583	86394583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagaaggtgaccttgtttTagggggcctgtttcctatta	9	15	11	6	0	0	2	0	1	0	1	1	2	1	2	3	3	0	2	3	3	6	7			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:86394583T>C	ENST00000361669.2	+	2	1221	c.122T>C	c.(121-123)tTa>tCa	p.L41S	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.L39S|GRM3_ENST00000439827.1_Missense_Mutation_p.L41S|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	41					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GACCTTGTTTTAGGGGGCCTG	0.413													23	48					0	0	0	0	C	86394583	T	C	86394583	3	2	295	1	0	0	0	0	1	0	0	0	6848	1764	61	5	124	5	GRM3	7	86394583	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	23700889	86394583	72744080	108	52727											
PON2	5445	broad.mit.edu	37	chr7	95039308	95039308	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtaaacaacatttgcccaGtgtaagttcaagtatgtttc	13	14	7	7	0	1	0	1	0	0	0	2	0	1	0	1	0	3	5	1	0	7	7			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:95039308G>A	ENST00000536183.1	-	6	846	c.663C>T	c.(661-663)caC>caT	p.H221H	PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Silent_p.H188H|PON2_ENST00000222572.3_Silent_p.H200H	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	200					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CATTTGCCCAGTGTAAGTTCA	0.373													23	54					0	0	0	0	A	95039308	G	A	95039308	2	1	295	1	0	0	0	0	0	0	0	1	12321	1020	36	4		4	PON2	7	95039308	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	8644725	95039308	64099355	109	52728											
TMEM168	64418	broad.mit.edu	37	chr7	112407741	112407741	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataataagccgggaacaaaaGgaaccattcttttctctcca	15	10	6	10	1	2	0	0	0	2	0	4	2	3	2	3	2	3	0	3	2	6	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:112407741G>C	ENST00000312814.5	-	5	2165	c.1605C>G	c.(1603-1605)tcC>tcG	p.S535S	TMEM168_ENST00000454074.1_Silent_p.S535S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	535						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGGAACAAAAGGAACCATTCT	0.403													17	41					0	0	0	0	C	112407741	G	C	112407741	2	2	295	1	0	0	0	0	0	0	0	1	16177	987	35	4		4	TMEM168	7	112407741	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	17368433	112407741	46730922	110	52729											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518983	113518983	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagcttctgctttctcagTaatgccatgatcagctagag	10	12	8	11	0	3	2	2	1	2	1	4	2	3	2	2	0	4	4	2	0	2	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:113518983T>C	ENST00000284601.3	-	4	2232	c.2164A>G	c.(2164-2166)Act>Gct	p.T722A		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	722					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCTTTCTCAGTAATGCCATGA	0.388													3	139					0	0	0	0	C	113518983	T	C	113518983	3	2	295	1	0	0	0	0	1	0	0	0	12447	1638	57	5	1208	5	PPP1R3A	7	113518983	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	1111242	113518983	45619680	111	52730											
DPP6	1804	broad.mit.edu	37	chr7	154172062	154172062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaaagaagaaggtcactGtagaagatctcttcagtgaa	16	9	9	7	0	4	5	3	1	1	4	5	5	4	5	0	1	0	1	0	1	7	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:154172062G>C	ENST00000404039.1	+	3	792	c.205G>C	c.(205-207)Gta>Cta	p.V69L	DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Missense_Mutation_p.V71L|DPP6_ENST00000377770.3_Missense_Mutation_p.V133L|DPP6_ENST00000427557.1_Missense_Mutation_p.V71L|DPP6_ENST00000406326.1_Missense_Mutation_p.V133L	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	133					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAAGGTCACTGTAGAAGATCT	0.403													39	44					0	0	0	0	C	154172062	G	C	154172062	3	2	295	1	0	0	0	0	1	0	0	0	4766	1377	48	4	523	4	DPP6	7	154172062	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	40653079	154172062	4966601	112	52731											
NCAPG2	54892	broad.mit.edu	37	chr7	158449250	158449250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtcaacctaccttggcCtgggcatgctctgtgggcag	6	11	13	11	0	2	1	1	1	1	0	2	1	2	1	3	3	3	3	3	3	2	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:158449250C>T	ENST00000409339.3	-	18	2321	c.2208G>A	c.(2206-2208)caG>caA	p.Q736Q	NCAPG2_ENST00000356309.3_Silent_p.Q736Q|NCAPG2_ENST00000449727.2_Silent_p.Q736Q|NCAPG2_ENST00000275830.10_Silent_p.Q528Q|NCAPG2_ENST00000409423.1_Silent_p.Q736Q|NCAPG2_ENST00000541468.1_Silent_p.Q237Q			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	736					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CTACCTTGGCCTGGGCATGCT	0.468													7	55					0	0	0	0	T	158449250	C	T	158449250	2	4	295	1	0	0	0	0	0	0	0	1	10278	680	24	4		4	NCAPG2	7	158449250	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	4277188	158449250	689413	113	52732											
MTUS1	57509	broad.mit.edu	37	chr8	17611496	17611496	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctgattcgatttcacGgcagatgttgttcttggaac	7	16	9	9	2	3	2	1	1	2	1	5	4	4	3	1	2	1	3	1	2	1	6			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:17611496G>C	ENST00000381869.3	-	2	2294	c.1821C>G	c.(1819-1821)gcC>gcG	p.A607A	MTUS1_ENST00000381862.3_Silent_p.A607A|MTUS1_ENST00000519263.1_Silent_p.A607A|MTUS1_ENST00000262102.6_Silent_p.A607A	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	607						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		p.A607A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCGATTTCACGGCAGATGTTG	0.433													5	167					0	0	0	0	C	17611496	G	C	17611496	2	2	295	1	0	0	0	0	0	0	0	1	10035	1103	39	3		3	MTUS1	8	17611496	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08		17611496	128752526	114	52733											
JPH1	56704	broad.mit.edu	37	chr8	75227563	75227563	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacttggattcggacttGcgaagtttcatgcttccaag	10	12	11	8	2	1	1	1	0	0	1	3	5	2	3	1	2	2	2	1	2	3	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:75227563G>C	ENST00000342232.4	-	2	712	c.672C>G	c.(670-672)cgC>cgG	p.R224R		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	224					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ATTCGGACTTGCGAAGTTTCA	0.582													9	104					0	0	0	0	C	75227563	G	C	75227563	2	2	295	1	0	0	0	0	0	0	0	1	8013	1306	46	4		4	JPH1	8	75227563	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	57616067	75227563	71136459	115	52734											
RSPO2	340419	broad.mit.edu	37	chr8	108970481	108970481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccccattcgctccaatgaCcaacttcacatccttctagt	9	13	3	16	1	2	1	1	1	1	0	6	1	5	1	5	0	1	1	5	0	3	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:108970481C>A	ENST00000276659.5	-	5	1063	c.443G>T	c.(442-444)gGt>gTt	p.G148V	RSPO2_ENST00000378439.2_Missense_Mutation_p.G84V|RSPO2_ENST00000517939.1_Missense_Mutation_p.G81V|RSPO2_ENST00000517781.1_Missense_Mutation_p.G84V	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	148	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GCTCCAATGACCAACTTCACA	0.368													20	41					1.50039e-11	6.33428e-11	1	0	A	108970481	C	A	108970481	3	1	295	1	0	0	0	0	1	0	0	0	13795	507	18	4	296	4	RSPO2	8	108970481	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	33742918	108970481	37393541	116	52735											
CSMD3	114788	broad.mit.edu	37	chr8	113326782	113326782	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatttgggtaactgtcAggatatccagggctcaatat	12	12	11	6	0	2	2	2	1	0	1	3	3	3	3	1	3	1	2	1	3	5	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:113326782A>T	ENST00000297405.5	-	48	7669	c.7425T>A	c.(7423-7425)ccT>ccA	p.P2475P	CSMD3_ENST00000455883.2_Silent_p.P2371P|CSMD3_ENST00000352409.3_Silent_p.P2405P|CSMD3_ENST00000343508.3_Silent_p.P2435P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2475	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTAACTGTCAGGATATCCAG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	23					0	0	0	0	T	113326782	A	T	113326782	2	4	295	1	0	0	0	0	0	0	0	1	3978	175	7	5		5	CSMD3	8	113326782	Silent	SNP	A	TCGA-CV-7250-01A-11D-2012-08	4356301	113326782	33037240	117	52736											
FAM83H	286077	broad.mit.edu	37	chr8	144808544	144808544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggttgctgctgtacaaggcGttggccgtggctgaggacag	7	9	17	8	2	0	1	0	1	0	0	0	2	0	2	1	5	3	6	1	5	2	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:144808544G>A	ENST00000388913.3	-	5	3212	c.3087C>T	c.(3085-3087)aaC>aaT	p.N1029N		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1029					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGTACAAGGCGTTGGCCGTGG	0.692													5	10					0	0	0	0	A	144808544	G	A	144808544	2	1	295	1	0	0	0	0	0	0	0	1	5686	1136	40	1		1	FAM83H	8	144808544	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	31481762	144808544	1555478	118	52737											
PARP10	84875	broad.mit.edu	37	chr8	145060329	145060329	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagtagagagtgagcagCtcgtcgggcacggcaggggg	10	5	18	8	3	1	2	1	1	0	1	3	3	1	2	0	4	2	5	0	4	2	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:145060329C>T	ENST00000313028.7	-	2	169	c.75G>A	c.(73-75)gaG>gaA	p.E25E	PARP10_ENST00000533665.1_Intron|PARP10_ENST00000525773.1_Silent_p.E37E|PARP10_ENST00000524918.1_Silent_p.E25E	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	25						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGTGAGCAGCTCGTCGGGCA	0.657													12	63					0	0	0	0	T	145060329	C	T	145060329	2	4	295	1	0	0	0	0	0	0	0	1	11526	796	28	4		4	PARP10	8	145060329	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	251785	145060329	1303693	119	52738											
LRRC14	9684	broad.mit.edu	37	chr8	145746352	145746352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtgctctgctgcctgaGgacctacgcttcctggcacg	4	12	11	14	2	2	1	0	1	2	0	3	2	3	2	3	2	4	4	3	2	1	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:145746352G>A	ENST00000292524.1	+	4	1118	c.972G>A	c.(970-972)gaG>gaA	p.E324E	LRRC14_ENST00000529022.1_Silent_p.E324E	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	324										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGCTGCCTGAGGACCTACGCT	0.637													18	159					0	0	0	0	A	145746352	G	A	145746352	2	1	295	1	0	0	0	0	0	0	0	1	9032	991	35	4		4	LRRC14	8	145746352	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	686023	145746352	617670	120	52739											
SMARCA2	6595	broad.mit.edu	37	chr9	2076291	2076291	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atactcctggatccaaatagCgaagaagtttctgagaagga	15	9	10	7	1	1	2	0	1	1	2	3	6	3	4	2	2	2	1	2	2	6	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:2076291C>A	ENST00000382203.1	+	13	2207	c.1998C>A	c.(1996-1998)agC>agA	p.S666R	SMARCA2_ENST00000357248.2_Missense_Mutation_p.S666R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.S666R|SMARCA2_ENST00000349721.2_Missense_Mutation_p.S666R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	666					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATCCAAATAGCGAAGAAGTTT	0.388													27	51					1.88708e-17	8.35117e-17	1	0	A	2076291	C	A	2076291	3	1	295	1	0	0	0	0	1	0	0	0	14857	767	27	3	2044	3	SMARCA2	9	2076291	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08		2076291	139137140	121	52740											
TEK	7010	broad.mit.edu	37	chr9	27218815	27218815	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgggagattgttagcttaGgtgagtatctatgtttatct	9	18	11	3	0	2	2	0	1	2	1	2	3	2	2	0	2	1	4	0	2	6	8			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:27218815G>T	ENST00000380036.4	+	20	3545	c.3103_splice	c.e20+1	p.G1035_splice	TEK_ENST00000406359.4_Splice_Site_p.G992_splice|TEK_ENST00000519097.1_Splice_Site_p.G887_splice	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1035	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TGTTAGCTTAGGTGAGTATCT	0.463													13	32					6.72482e-11	2.8155e-10	1	0	T	27218815	G	T	27218815	5	4	295	1	0	0	0	0	0	0	1	0	15845	1014	35	4	3181	4	TEK	9	27218815	Splice_Site	SNP	G	TCGA-CV-7250-01A-11D-2012-08	25142524	27218815	113994616	122	52741											
CCIN	881	broad.mit.edu	37	chr9	36170744	36170744	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcatccccatggatggCaccgccgtgatcactaaagg	11	7	11	12	2	1	2	1	2	0	0	2	3	2	3	4	3	1	2	4	3	2	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:36170744C>T	ENST00000335119.2	+	1	1356	c.1245C>T	c.(1243-1245)ggC>ggT	p.G415G		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	415					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCATGGATGGCACCGCCGTGA	0.542													29	43					0	0	0	0	T	36170744	C	T	36170744	2	4	295	1	0	0	0	0	0	0	0	1	2905	697	25	4		4	CCIN	9	36170744	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	8951929	36170744	105042687	123	52742											
TLE4	7091	broad.mit.edu	37	chr9	82320843	82320843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatgacaacttggtggttGacgtttccaatgaggtatgt	9	14	13	5	1	0	4	0	4	0	0	1	4	1	4	1	3	1	3	1	3	3	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:82320843G>C	ENST00000376520.4	+	10	1597	c.769G>C	c.(769-771)Gac>Cac	p.D257H	TLE4_ENST00000265284.6_Missense_Mutation_p.D232H|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376552.2_Missense_Mutation_p.D257H|TLE4_ENST00000376537.4_Missense_Mutation_p.D257H			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTTGGTGGTTGACGTTTCCAA	0.398													6	80					0	0	0	0	C	82320843	G	C	82320843	3	2	295	1	0	0	0	0	1	0	0	0	16035	1290	45	2	807	2	TLE4	9	82320843	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	46150099	82320843	58892588	124	52743											
GRIN3A	116443	broad.mit.edu	37	chr9	104449192	104449192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccggatactttccatgtcGcagccaaacatcaccactgt	10	9	7	15	3	1	0	1	0	0	0	3	1	2	1	4	1	3	1	4	1	2	2	rs144389302		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:104449192G>A	ENST00000361820.3	-	2	1590	c.990C>T	c.(988-990)tgC>tgT	p.C330C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	330					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TTTCCATGTCGCAGCCAAACA	0.527													11	26					0	0	0	0	A	104449192	G	A	104449192	2	1	295	1	0	0	0	0	0	0	0	1	6833	1079	38	1		1	GRIN3A	9	104449192	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	22128349	104449192	36764239	125	52744											
SETX	23064	broad.mit.edu	37	chr9	135204921	135204921	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttactactctgctttaaGcatgacccagctaagagatg	11	14	7	9	0	1	2	0	1	1	1	1	3	1	2	1	0	5	3	1	0	4	7			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:135204921G>A	ENST00000372169.2	-	10	2246	c.2064C>T	c.(2062-2064)tgC>tgT	p.C688C	SETX_ENST00000393220.1_Silent_p.C688C|SETX_ENST00000224140.5_Silent_p.C688C			Q7Z333	SETX_HUMAN	senataxin	688					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTGCTTTAAGCATGACCCAG	0.328													25	43					0	0	0	0	A	135204921	G	A	135204921	2	1	295	1	0	0	0	0	0	0	0	1	14228	963	34	4		4	SETX	9	135204921	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	30755729	135204921	6008510	126	52745											
RALGDS	5900	broad.mit.edu	37	chr9	136037789	136037789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacccagggccagtctcCggcgatgcattgctgggggc	6	6	15	14	2	1	1	0	0	1	1	2	2	1	1	4	4	2	2	4	4	0	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:136037789C>T	ENST00000542690.1	-	2	291	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	GBGT1_ENST00000372043.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372040.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000540636.1_Missense_Mutation_p.R4Q|GBGT1_ENST00000372036.3_Missense_Mutation_p.R4Q			Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	0					nerve growth factor receptor signaling pathway|Ras protein signal transduction|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)		GGCCAGTCTCCGGCGATGCAT	0.662			T	CIITA	"PMBL, Hodgkin Lymphona, "								5	15					0	0	0	0	T	136037789	C	T	136037789	3	4	295	1	0	0	0	0	1	0	0	0	13098	652	23	1		1	RALGDS	9	136037789	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	832868	136037789	5175642	127	52746											
SURF4	6836	broad.mit.edu	37	chr9	136234223	136234223	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgatgtagtcgcgctgctcGctccactggaaccacatacg	8	9	10	14	5	0	0	0	0	0	0	4	2	1	1	2	1	3	4	2	1	3	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:136234223G>A	ENST00000371989.3	-	2	276	c.147C>T	c.(145-147)agC>agT	p.S49S	SURF4_ENST00000545297.1_Silent_p.S49S|SURF4_ENST00000371991.3_Silent_p.S49S|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Silent_p.S49S	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	49						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGCGCTGCTCGCTCCACTGGA	0.597													22	25					0	0	0	0	A	136234223	G	A	136234223	2	1	295	1	0	0	0	0	0	0	0	1	15495	1078	38	1		1	SURF4	9	136234223	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	196434	136234223	4979208	128	52747											
FCN1	2219	broad.mit.edu	37	chr9	137809628	137809628	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcacctggacatgtgtcCgcagcctgggcaggcaggtt	6	9	14	12	1	1	0	1	0	1	0	3	1	2	1	3	4	1	4	3	4	0	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:137809628C>T	ENST00000371806.3	-	1	181	c.90G>A	c.(88-90)gcG>gcA	p.A30A		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	30					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GACATGTGTCCGCAGCCTGGG	0.572													23	42					0	0	0	0	T	137809628	C	T	137809628	2	4	295	1	0	0	0	0	0	0	0	1	5836	639	23	1		1	FCN1	9	137809628	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	1575405	137809628	3403803	129	52748											
FBXO18	84893	broad.mit.edu	37	chr10	5958267	5958267	+	Frame_Shift_Del	DEL	G	G	-																															tcaactccgtccttgctgaaGggaagggtggattcataaga																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:5958267delG	ENST00000379999.5	+	11	1893	c.1789delG	c.(1789-1791)ggfs	p.G597fs	FBXO18_ENST00000379994.1_Frame_Shift_Del_p.G283fs|FBXO18_ENST00000362091.4_Frame_Shift_Del_p.G546fs|FBXO18_ENST00000397269.3_Frame_Shift_Del_p.G33fs	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	546					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCTTGCTGAAGGGAAGGGTGG	0.463													19	71	---	---	---	---					-	5958267	G	-	5958267	7	5	295	1	0	1	0	1	0	0	0	0	5776	1000	35	0	1836	0	FBXO18	10	5958267	Frame_Shift_Del	DEL	G	TCGA-CV-7250-01A-11D-2012-08		5958267	129576480	130	52749											
MLLT10	8028	broad.mit.edu	37	chr10	22021981	22021981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataacagcaaatcctagtcCgtctcatcaaatacacacat	17	9	3	12	1	2	0	2	0	1	0	5	0	4	0	2	0	3	1	2	0	6	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:22021981C>T	ENST00000377072.3	+	19	2768	c.2420C>T	c.(2419-2421)cCg>cTg	p.P807L	MLLT10_ENST00000377059.3_Missense_Mutation_p.P791L|MLLT10_ENST00000446906.2_Missense_Mutation_p.P791L|MLLT10_ENST00000307729.7_Missense_Mutation_p.P791L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	807					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P807L(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AATCCTAGTCCGTCTCATCAA	0.338			T	"MLL, PICALM, CDK6"	AL								7	67					0	0	0	0	T	22021981	C	T	22021981	3	4	295	1	0	0	0	0	1	0	0	0	9695	652	23	1	2490	1	MLLT10	10	22021981	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	16063714	22021981	113512766	131	52750											
KIAA1217	56243	broad.mit.edu	37	chr10	24825815	24825817	+	In_Frame_Del	DEL	AGA	AGA	-																															cgccacagtgccacccaaggAgaagaaggtaacgtggcaac																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:24825815_24825817delAGA	ENST00000376451.2	+	12	2836_2838	c.2576_2578delAGA	c.(2575-2580)gag>g	p.EK859del	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_In_Frame_Del_p.EK859del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.EK1141del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.EK1176del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.EK1140del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.EK859del			Q5T5P2	SKT_HUMAN	KIAA1217	1176					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCACCCAAGGAGAAGAAGGTAAC	0.517													28	40	---	---	---	---					-	24825817	AGA	-	24825815	7	5	295	1	0	1	0	1	0	0	0	0	8267	304	11	0	3593	0	KIAA1217	10	24825815	In_Frame_Del	DEL	AGA	TCGA-CV-7250-01A-11D-2012-08	2803834	24825815	110708932	132	52751											
RASSF4	83937	broad.mit.edu	37	chr10	45484754	45484754	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actccagcctatggatccgtGaccaatgtgagggtcaacag	11	8	11	11	1	1	2	1	2	0	0	3	3	3	3	4	2	2	0	4	2	3	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:45484754G>A	ENST00000334940.6	+	7	725	c.591G>A	c.(589-591)gtG>gtA	p.V197V	RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000340258.4_Silent_p.V188V|RASSF4_ENST00000374417.2_3'UTR			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	188	Ras-associating.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATGGATCCGTGACCAATGTGA	0.562													11	31					0	0	0	0	A	45484754	G	A	45484754	2	1	295	1	0	0	0	0	0	0	0	1	13170	1277	45	2		2	RASSF4	10	45484754	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	20658939	45484754	90049993	133	52752											
MYPN	84665	broad.mit.edu	37	chr10	69925475	69925475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagaggagatttgcaccttGgtcattgctgaggtgtttgc	8	14	13	6	0	1	3	1	1	0	2	1	4	1	3	1	3	3	3	1	3	1	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:69925475G>A	ENST00000358913.5	+	9	1988	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L	MYPN_ENST00000540630.1_Silent_p.L500L|MYPN_ENST00000354393.2_Silent_p.L225L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	500	Ig-like 2.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTTGCACCTTGGTCATTGCTG	0.413													5	44					0	0	0	0	A	69925475	G	A	69925475	2	1	295	1	0	0	0	0	0	0	0	1	10168	1339	47	4		4	MYPN	10	69925475	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	24440721	69925475	65609272	134	52753											
RUFY2	55680	broad.mit.edu	37	chr10	70139220	70139220	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctgcagtaattttattgGttttttcttctagtcgggca	6	19	10	6	1	2	0	0	0	2	0	3	0	2	0	0	3	1	5	0	3	3	9			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:70139220G>C	ENST00000388768.2	-	12	1597	c.1271C>G	c.(1270-1272)aCc>aGc	p.T424S	RUFY2_ENST00000399200.2_Missense_Mutation_p.T355S|RUFY2_ENST00000454950.2_Missense_Mutation_p.T331S|RUFY2_ENST00000602465.1_Missense_Mutation_p.T389S	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	438						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AATTTTATTGGTTTTTTCTTC	0.338													8	64					0	0	0	0	C	70139220	G	C	70139220	3	2	295	1	0	0	0	0	1	0	0	0	13824	1261	44	4	795	4	RUFY2	10	70139220	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	213745	70139220	65395527	135	52754											
TTC18	118491	broad.mit.edu	37	chr10	75059376	75059376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacttgccttctgagctcctCctgtccgacgggtaagagga	7	10	11	13	2	1	2	0	1	1	1	4	4	4	3	4	2	2	2	4	2	1	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:75059376C>T	ENST00000401621.2	-	14	1634	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.G505E|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000310715.3_Missense_Mutation_p.G505E			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	505							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTGAGCTCCTCCTGTCCGACG	0.363													14	27					0	0	0	0	T	75059376	C	T	75059376	3	4	295	1	0	0	0	0	1	0	0	0	16781	855	30	2	1911	2	TTC18	10	75059376	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	4920156	75059376	60475371	136	52755											
BTRC	8945	broad.mit.edu	37	chr10	103291078	103291078	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcactttatcctaaaattatAcaagacattgaggtaagaat	17	12	6	6	0	0	3	0	1	0	2	1	3	1	3	1	1	1	2	1	1	8	7	rs146435684		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:103291078A>T	ENST00000370187.3	+	7	946	c.828A>T	c.(826-828)atA>atT	p.I276I	BTRC_ENST00000408038.2_Silent_p.I240I|BTRC_ENST00000393441.4_Silent_p.I235I	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	276					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTAAAATTATACAAGACATTG	0.368													24	50					0	0	0	0	T	103291078	A	T	103291078	2	4	295	1	0	0	0	0	0	0	0	1	1578	381	14	5		5	BTRC	10	103291078	Silent	SNP	A	TCGA-CV-7250-01A-11D-2012-08	28231702	103291078	32243669	137	52756											
POLL	27343	broad.mit.edu	37	chr10	103343337	103343337	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagctccaagacaggcacGctctcactgatatggtccag	12	7	10	12	1	1	3	1	1	1	2	4	3	3	3	2	2	1	3	2	2	3	1	rs148400497	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:103343337G>A	ENST00000370162.3	-	6	1487	c.993C>T	c.(991-993)agC>agT	p.S331S	DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000299206.4_Silent_p.S331S|POLL_ENST00000436284.2_3'UTR|POLL_ENST00000370169.1_Silent_p.S331S|POLL_ENST00000339310.3_Silent_p.S54S|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000370158.3_Silent_p.S56S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	331					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGACAGGCACGCTCTCACTGA	0.562								DNA polymerases (catalytic subunits)					15	29					0	0	0	0	A	103343337	G	A	103343337	2	1	295	1	0	0	0	0	0	0	0	1	12277	1078	38	1		1	POLL	10	103343337	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	52259	103343337	32191410	138	52757											
GRK5	2869	broad.mit.edu	37	chr10	121182709	121182709	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagcccaagttggccaagAcctggtctcccagacggagg	10	6	12	13	1	1	2	0	0	1	2	2	3	1	3	4	4	1	1	4	4	3	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:121182709A>C	ENST00000392870.2	+	5	700	c.371A>C	c.(370-372)gAc>gCc	p.D124A	GRK5_ENST00000369108.3_Missense_Mutation_p.D19A	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	124	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GTTGGCCAAGACCTGGTCTCC	0.582													51	152					0	0	0	0	C	121182709	A	C	121182709	3	2	295	1	0	0	0	0	1	0	0	0	6842	275	10	5	389	5	GRK5	10	121182709	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	17839372	121182709	14352038	139	52758											
PPAPDC1A	196051	broad.mit.edu	37	chr10	122280508	122280508	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgatttcttttaccgcTgctttccagatggagtgatg	6	14	10	11	2	1	2	0	1	1	1	2	4	2	3	4	1	2	2	4	1	1	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:122280508T>A	ENST00000398250.1	+	5	698	c.346T>A	c.(346-348)Tgc>Agc	p.C116S	PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.C116S|PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.C106S	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	116					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CTTTTACCGCTGCTTTCCAGA	0.512													21	57					0	0	0	0	A	122280508	T	A	122280508	3	1	295	1	0	0	0	0	1	0	0	0	12364	1580	55	5	364	5	PPAPDC1A	10	122280508	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	1097799	122280508	13254239	140	52759											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	5	9	14	13	3	0	0	0	0	0	0	3	1	3	1	4	5	1	4	4	5	2	2	rs121913233		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:533874T>A	ENST00000417302.1	-	3	369	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			22	55					0	0	0	0	A	533874	T	A	533874	3	1	295	1	0	0	0	0	1	0	0	0	7398	1580	55	5	466	5	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08		533874	134472642	141	52760											
EPS8L2	64787	broad.mit.edu	37	chr11	720677	720677	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgctacccgtctgtgctGctgctcgtgtgccaggactc	3	11	12	15	3	1	0	0	0	1	0	3	1	1	1	2	1	6	4	2	1	1	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:720677G>A	ENST00000533256.1	+	7	783	c.408G>A	c.(406-408)ctG>ctA	p.L136L	EPS8L2_ENST00000526198.1_Silent_p.L152L|EPS8L2_ENST00000318562.8_Silent_p.L136L|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Silent_p.L136L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	136	PID.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTCTGTGCTGCTGCTCGTGT	0.677													5	7					0	0	0	0	A	720677	G	A	720677	2	1	295	1	0	0	0	0	0	0	0	1	5234	1306	46	4		4	EPS8L2	11	720677	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	186803	720677	134285839	142	52761											
NLRP14	338323	broad.mit.edu	37	chr11	7064303	7064303	+	Frame_Shift_Del	DEL	C	C	-																															ttttgaagataagaggtgggCcatgaaagtattcagttcac																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:7064303delC	ENST00000299481.4	+	4	1392	c.1046delC	c.(1045-1047)gcfs	p.A349fs		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	349	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGAGGTGGGCCATGAAAGTA	0.428													30	48	---	---	---	---					-	7064303	C	-	7064303	7	5	295	1	0	1	0	1	0	0	0	0	10546	739	26	0	1056	0	NLRP14	11	7064303	Frame_Shift_Del	DEL	C	TCGA-CV-7250-01A-11D-2012-08	6343626	7064303	127942213	143	52762											
EIF3M	10480	broad.mit.edu	37	chr11	32615476	32615476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaggacaatgcttcccagGctcgagttgatgcccacagg	10	7	12	12	1	0	2	0	1	0	1	2	4	1	3	2	3	2	3	2	3	1	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:32615476G>T	ENST00000531120.1	+	6	661	c.598G>T	c.(598-600)Gct>Tct	p.A200S	EIF3M_ENST00000524896.1_Missense_Mutation_p.A68S	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M	200						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					TGCTTCCCAGGCTCGAGTTGA	0.393													13	25					0.000219431	0.000832354	1	0	T	32615476	G	T	32615476	3	4	295	1	0	0	0	0	1	0	0	0	5061	1203	42	4	620	4	EIF3M	11	32615476	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	25551173	32615476	102391040	144	52763											
C11orf84	144097	broad.mit.edu	37	chr11	63585325	63585325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacccagcccgctagaggCaggcagtgatggctgtgagg	9	6	16	10	1	0	4	0	2	0	2	0	4	0	4	2	4	1	4	2	4	2	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:63585325C>A	ENST00000294244.4	+	2	475	c.176C>A	c.(175-177)gCa>gAa	p.A59E		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	59										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CCGCTAGAGGCAGGCAGTGAT	0.637													4	12					2.56e-06	1.01694e-05	1	0	A	63585325	C	A	63585325	3	1	295	1	0	0	0	0	1	0	0	0	1678	710	25	4	182	4	C11orf84	11	63585325	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	30969849	63585325	71421191	145	52764											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71277066	71277066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcccagtgcaattgcTgtaagccctgctgctgctcc	5	11	10	15	0	0	0	0	0	0	0	2	0	2	0	3	0	7	8	3	0	2	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:71277066T>C	ENST00000398531.1	+	1	458	c.433T>C	c.(433-435)Tgt>Cgt	p.C145R	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.C97R	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	145	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GTGCAATTGCTGTAAGCCctg	0.647													47	102					0	0	0	0	C	71277066	T	C	71277066	3	2	295	1	0	0	0	0	1	0	0	0	8612	1580	55	5	435	5	KRTAP5-10	11	71277066	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	7691741	71277066	63729450	146	52765											
FAT3	120114	broad.mit.edu	37	chr11	92532912	92532912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtcctgaaagttgttagcCctttggattatgaagttaca	10	14	11	6	0	0	2	0	2	0	0	1	3	1	3	2	2	2	3	2	2	5	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:92532912C>T	ENST00000298047.6	+	9	6750	c.6733C>T	c.(6733-6735)Cct>Tct	p.P2245S	FAT3_ENST00000409404.2_Missense_Mutation_p.P2245S|FAT3_ENST00000525166.1_Missense_Mutation_p.P2095S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2245	Cadherin 20.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTTGTTAGCCCTTTGGATTA	0.438										TCGA Ovarian(4;0.039)			7	16					0	0	0	0	T	92532912	C	T	92532912	3	4	295	1	0	0	0	0	1	0	0	0	5736	623	22	4	6767	4	FAT3	11	92532912	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	21255846	92532912	42473604	147	52766											
HEPHL1	341208	broad.mit.edu	37	chr11	93806191	93806191	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcctatgtcttttcagTgactctgatctctacttcac	8	17	4	12	0	5	2	2	2	3	0	7	2	6	2	1	0	1	0	1	0	2	6			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:93806191T>G	ENST00000315765.9	+	7	1241	c.1232_splice	c.e7-1	p.S411_splice		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	411	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTCTTTTCAGTGACTCTGATC	0.368													8	21					0	0	0	0	G	93806191	T	G	93806191	5	3	295	1	0	0	0	0	0	0	1	0	7105	1710	59	5	1259	5	HEPHL1	11	93806191	Splice_Site	SNP	T	TCGA-CV-7250-01A-11D-2012-08	1273279	93806191	41200325	148	52767											
CADM1	23705	broad.mit.edu	37	chr11	115102137	115102137	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgctggccatagcagtGcagttgacttcaatctcctc	7	12	10	12	0	2	1	1	1	1	0	4	1	2	1	2	2	3	5	2	2	2	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:115102137G>A	ENST00000542447.2	-	4	626	c.498C>T	c.(496-498)tgC>tgT	p.C166C	CADM1_ENST00000331581.6_Silent_p.C166C|CADM1_ENST00000536727.1_Silent_p.C166C|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Silent_p.C166C|CADM1_ENST00000537058.1_Silent_p.C166C	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	166	Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCATAGCAGTGCAGTTGACTT	0.458													29	56					0	0	0	0	A	115102137	G	A	115102137	2	1	295	1	0	0	0	0	0	0	0	1	2591	1311	46	4		4	CADM1	11	115102137	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	21295946	115102137	19904379	149	52768											
BSX	390259	broad.mit.edu	37	chr11	122852272	122852272	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgaaatggtctggggcCacctctctcagcggcttggg	5	9	15	12	2	3	0	1	0	2	0	4	1	3	0	2	6	1	1	2	6	1	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:122852272C>T	ENST00000343035.2	-	1	156	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	36										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GGTCTGGGGCCACCTCTCTCA	0.612													3	4					0	0	0	0	T	122852272	C	T	122852272	2	4	295	1	0	0	0	0	0	0	0	1	1543	581	21	4		4	BSX	11	122852272	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	7750135	122852272	12154244	150	52769											
OR6T1	219874	broad.mit.edu	37	chr11	123814471	123814471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attaaccccaggaacaccagGaactgtatgaggtggctact	13	8	10	10	0	0	1	0	1	0	0	0	3	0	3	3	4	4	2	3	4	5	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:123814471G>T	ENST00000321252.2	-	1	109	c.75C>A	c.(73-75)ttC>ttA	p.F25L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGAACACCAGGAACTGTATGA	0.488													36	74					5.43694e-19	2.46003e-18	1	0	T	123814471	G	T	123814471	3	4	295	1	0	0	0	0	1	0	0	0	11281	1165	41	2	899	2	OR6T1	11	123814471	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	962199	123814471	11192045	151	52770											
B4GALNT3	283358	broad.mit.edu	37	chr12	666883	666883	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcactgactatagcagtgaGgacatggatgttgagatggc	12	10	13	6	0	1	3	1	3	0	1	1	6	1	5	0	3	1	2	0	3	2	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:666883G>A	ENST00000266383.5	+	16	2503	c.2490G>A	c.(2488-2490)gaG>gaA	p.E830E		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	830						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)			ATAGCAGTGAGGACATGGATG	0.547													14	21					0	0	0	0	A	666883	G	A	666883	2	1	295	1	0	0	0	0	0	0	0	1	1272	991	35	4		4	B4GALNT3	12	666883	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08		666883	133185012	152	52771											
SOX5	6660	broad.mit.edu	37	chr12	23999030	23999030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagggctgtactagacaagGactcgccactctgtcgccca	9	7	10	15	2	1	1	0	0	1	1	3	2	1	2	3	2	1	2	3	2	3	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:23999030G>A	ENST00000546136.1	-	2	331	c.329C>T	c.(328-330)tCc>tTc	p.S110F	SOX5_ENST00000537393.1_Missense_Mutation_p.S88F|SOX5_ENST00000441133.2_Missense_Mutation_p.S88F|SOX5_ENST00000541847.1_Missense_Mutation_p.S113F|SOX5_ENST00000381381.2_Missense_Mutation_p.S110F|SOX5_ENST00000451604.2_Missense_Mutation_p.S123F|SOX5_ENST00000545921.1_Missense_Mutation_p.S113F|SOX5_ENST00000309359.1_Missense_Mutation_p.S110F|SOX5_ENST00000541536.1_Missense_Mutation_p.S110F			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	123					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACTAGACAAGGACTCGCCACT	0.493													33	53					0	0	0	0	A	23999030	G	A	23999030	3	1	295	1	0	0	0	0	1	0	0	0	15042	1174	41	2	1985	2	SOX5	12	23999030	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	23332147	23999030	109852865	153	52772											
FAR2	55711	broad.mit.edu	37	chr12	29469874	29469874	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcttcacatcacagtactgGaatgcggtcagccaccgggc	10	7	11	13	2	3	0	3	0	0	0	3	1	3	1	2	3	4	2	2	3	2	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:29469874G>A	ENST00000182377.4	+	9	1324	c.1056G>A	c.(1054-1056)tgG>tgA	p.W352*	FAR2_ENST00000547116.1_Nonsense_Mutation_p.W255*|FAR2_ENST00000536681.2_Nonsense_Mutation_p.W352*|RP11-996F15.2_ENST00000553105.1_RNA	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	352					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CACAGTACTGGAATGCGGTCA	0.498													17	215					0	0	0	0	A	29469874	G	A	29469874	4	1	295	1	0	0	0	0	0	1	0	0	5720	1183	41	2	1086	2	FAR2	12	29469874	Nonsense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	5470844	29469874	104382021	154	52773											
OR8S1	341568	broad.mit.edu	37	chr12	48920192	48920192	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcaggtttgctccgccatCtcatgccaaactcaggttcc	7	11	8	15	1	3	0	3	0	1	0	6	0	5	0	4	2	3	4	4	2	1	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:48920192C>G	ENST00000310194.1	+	1	778	c.778C>G	c.(778-780)Ctc>Gtc	p.L260V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCTCCGCCATCTCATGCCAAA	0.498													22	49					0	0	0	0	G	48920192	C	G	48920192	3	3	295	1	0	0	0	0	1	0	0	0	11317	913	32	2	780	2	OR8S1	12	48920192	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	19450318	48920192	84931703	155	52774											
HOXC9	3225	broad.mit.edu	37	chr12	54396248	54396248	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggattcacgcccgctcCacgaggaagaagcgctgccc	10	5	11	15	4	1	1	1	0	0	1	2	4	2	3	3	2	3	2	3	2	3	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:54396248C>A	ENST00000303450.4	+	2	643	c.573C>A	c.(571-573)tcC>tcA	p.S191S	HOXC9_ENST00000508190.1_Silent_p.S191S|HOXC9_ENST00000504557.1_3'UTR	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	191					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACGCCCGCTCCACGAGGAAGA	0.567													6	109					5.18039e-06	2.04981e-05	1	0	A	54396248	C	A	54396248	2	1	295	1	0	0	0	0	0	0	0	1	7367	581	21	4		4	HOXC9	12	54396248	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	5476056	54396248	79455647	156	52775											
CDK4	1019	broad.mit.edu	37	chr12	58142978	58142978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtaccagcagcagctgtGctcccgactcctccatctca	8	8	7	18	1	1	0	1	0	1	0	5	1	4	0	5	0	5	5	5	0	1	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:58142978G>A	ENST00000257904.6	-	7	1171	c.806C>T	c.(805-807)gCa>gTa	p.A269V	TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000312990.6_3'UTR|CDK4_ENST00000549606.1_Missense_Mutation_p.A6V|CDK4_ENST00000540325.1_Missense_Mutation_p.A149V	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	269	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAGCAGCTGTGCTCCCGACTC	0.602			Mis			melanoma			Hereditary Melanoma				18	74					0	0	0	0	A	58142978	G	A	58142978	3	1	295	1	0	0	0	0	1	0	0	0	3170	1319	46	4	113	4	CDK4	12	58142978	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	3746730	58142978	75708917	157	52776											
GLIPR1	11010	broad.mit.edu	37	chr12	75889388	75889388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacttggccatataagagaGgagccacctgcagtgcctgc	11	7	11	12	0	0	1	0	0	0	1	0	3	0	2	4	2	5	1	4	2	3	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:75889388G>A	ENST00000266659.3	+	4	766	c.565G>A	c.(565-567)Gga>Aga	p.G189R		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	189					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						ATATAAGAGAGGAGCCACCTG	0.378													3	24					0	0	0	0	A	75889388	G	A	75889388	3	1	295	1	0	0	0	0	1	0	0	0	6492	1001	35	4	579	4	GLIPR1	12	75889388	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	17746410	75889388	57962507	158	52777											
TMEM132B	114795	broad.mit.edu	37	chr12	126138423	126138423	+	Missense_Mutation	SNP	G	G	T																															agcaccaaggaggcagcaatGatattgagggcataaatcgg																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:126138423G>T	ENST00000299308.3	+	9	2412	c.2404G>T	c.(2404-2406)Gat>Tat	p.D802Y	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314Y	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	802						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGCAGCAATGATATTGAGGG	0.473													6	57					3.59834e-05	0.000139108	1	0	T	126138423	G	T	126138423	3	4	295	1	0	0	0	0	1	0	0	0	16140	1290	45	2	2438	2	TMEM132B	12	126138423	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	50249035	126138423	7713472	159	52778	417	2									
TMEM132B	114795	broad.mit.edu	37	chr12	126138424	126138424	+	Missense_Mutation	SNP	A	A	G																															gcaccaaggaggcagcaatgAtattgagggcataaatcggg																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:126138424A>G	ENST00000299308.3	+	9	2413	c.2405A>G	c.(2404-2406)gAt>gGt	p.D802G	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	802						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCAGCAATGATATTGAGGGC	0.478													6	58					0	0	0	0	G	126138424	A	G	126138424	3	3	295	1	0	0	0	0	1	0	0	0	16140	333	12	5	2439	5	TMEM132B	12	126138424	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	1	126138424	7713471	160	52779	417	2									
ZMYM2	7750	broad.mit.edu	37	chr13	20641147	20641148	+	Frame_Shift_Del	DEL	GA	GA	-																															aagatcttctggtattagatGagttaaaatcttgtaagtgt																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:20641147_20641148delGA	ENST00000382869.3	+	20	3540_3541	c.3289_3290delGA	c.(3289-3291)gfs	p.E1097fs	ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.E1097fs|ZMYM2_ENST00000382870.2_Frame_Shift_Del_p.E477fs|ZMYM2_ENST00000494061.1_3'UTR|ZMYM2_ENST00000382874.2_Frame_Shift_Del_p.E1097fs	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1097					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GGTATTAGATGAGTTAAAATCT	0.302													11	34	---	---	---	---					-	20641148	GA	-	20641147	7	5	295	1	0	1	0	1	0	0	0	0	17795	1291	45	0	3359	0	ZMYM2	13	20641147	Frame_Shift_Del	DEL	GA	TCGA-CV-7250-01A-11D-2012-08		20641147	94528731	161	52780											
N6AMT2	221143	broad.mit.edu	37	chr13	21331600	21331600	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcatttacttacccaattCtcttctattattccaatgtt	10	19	2	10	0	2	0	0	0	2	0	4	0	3	0	2	0	3	2	2	0	6	9			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:21331600C>T	ENST00000382758.1	-	2	185	c.138G>A	c.(136-138)gaG>gaA	p.E46E	N6AMT2_ENST00000382754.4_Silent_p.E46E|N6AMT2_ENST00000460374.1_5'UTR			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	46							methyltransferase activity|nucleic acid binding	p.E46D(1)		endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTACCCAATTCTCTTCTATTA	0.418													23	57					0	0	0	0	T	21331600	C	T	21331600	2	4	295	1	0	0	0	0	0	0	0	1	10185	912	32	2		2	N6AMT2	13	21331600	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	690453	21331600	93838278	162	52781											
STARD13	90627	broad.mit.edu	37	chr13	33703125	33703125	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtctctgaccccaggAggctcagattcattaagaga	10	10	9	12	0	3	3	2	1	1	2	5	5	4	4	3	2	0	1	3	2	1	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:33703125A>G	ENST00000336934.5	-	5	1805	c.1689T>C	c.(1687-1689)ccT>ccC	p.P563P	STARD13_ENST00000399365.3_Silent_p.P445P|STARD13_ENST00000255486.4_Silent_p.P555P	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	563					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGACCCCAGGAGGCTCAGATT	0.473													18	32					0	0	0	0	G	33703125	A	G	33703125	2	3	295	1	0	0	0	0	0	0	0	1	15346	291	11	5		5	STARD13	13	33703125	Silent	SNP	A	TCGA-CV-7250-01A-11D-2012-08	12371525	33703125	81466753	163	52782											
TRPC4	7223	broad.mit.edu	37	chr13	38320520	38320520	+	Frame_Shift_Del	DEL	G	G	-																															tatctcataattatttgtatGggctgccaaaatgattggtg																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:38320520delG	ENST00000379705.3	-	3	1308	c.451delC	c.(451-453)atfs	p.H151fs	TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379673.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379681.3_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000358477.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000447043.1_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000426868.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379679.1_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	151	Multimerization domain (By similarity).				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)		TTATTTGTATGGGCTGCCAAA	0.433													49	111	---	---	---	---					-	38320520	G	-	38320520	7	5	295	1	0	1	0	1	0	0	0	0	16675	1348	47	0	2533	0	TRPC4	13	38320520	Frame_Shift_Del	DEL	G	TCGA-CV-7250-01A-11D-2012-08	4617395	38320520	76849358	164	52783											
SLITRK6	84189	broad.mit.edu	37	chr13	86368987	86368987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctttcaattcctttttgtCgagatgcccgggggaagtgc	6	13	13	9	2	1	1	1	0	0	1	3	3	2	2	2	3	2	1	2	3	2	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:86368987C>T	ENST00000400286.2	-	2	2255	c.1657G>A	c.(1657-1659)Gac>Aac	p.D553N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	553	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCTTTTTGTCGAGATGCCCG	0.458													11	54					0	0	0	0	T	86368987	C	T	86368987	3	4	295	1	0	0	0	0	1	0	0	0	14835	884	31	1	872	1	SLITRK6	13	86368987	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	48048467	86368987	28800891	165	52784											
OXGR1	27199	broad.mit.edu	37	chr13	97639754	97639754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catagtagtgaatcaggaagGggaggctggtcagatacagc	13	7	15	6	0	2	2	2	1	0	1	2	4	2	4	0	5	2	2	0	5	5	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:97639754G>T	ENST00000298440.1	-	4	503	c.260C>A	c.(259-261)cCc>cAc	p.P87H	OXGR1_ENST00000543457.1_Missense_Mutation_p.P87H	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	87						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AATCAGGAAGGGGAGGCTGGT	0.453													10	16					2.17888e-05	8.48837e-05	1	0	T	97639754	G	T	97639754	3	4	295	1	0	0	0	0	1	0	0	0	11403	1232	43	4	757	4	OXGR1	13	97639754	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	11270767	97639754	17530124	166	52785											
OR4K5	79317	broad.mit.edu	37	chr14	20389043	20389043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcacacgagaccatatCtttcagtggctgcatagccc	10	9	10	12	1	2	1	1	0	1	1	2	3	2	1	2	1	3	3	2	1	2	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:20389043C>A	ENST00000315915.4	+	1	303	c.278C>A	c.(277-279)tCt>tAt	p.S93Y		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGACCATATCTTTCAGTGGC	0.418													57	295					8.99859e-20	4.0899e-19	1	0	A	20389043	C	A	20389043	3	1	295	1	0	0	0	0	1	0	0	0	11144	913	32	2	280	2	OR4K5	14	20389043	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08		20389043	86960497	167	52786											
NOVA1	4857	broad.mit.edu	37	chr14	26918046	26918046	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaccctctcttgcaagtTgatcccatcaggtttctggg	8	12	9	12	0	3	1	1	1	2	0	5	2	4	1	2	2	2	3	2	2	2	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:26918046T>A	ENST00000539517.2	-	5	960	c.643A>T	c.(643-645)Aac>Tac	p.N215Y	NOVA1_ENST00000465357.2_Missense_Mutation_p.N191Y|NOVA1_ENST00000267422.7_Missense_Mutation_p.N93Y	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	218	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TCTTGCAAGTTGATCCCATCA	0.488													43	76					0	0	0	0	A	26918046	T	A	26918046	3	1	295	1	0	0	0	0	1	0	0	0	10624	1812	63	5	884	5	NOVA1	14	26918046	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	6529003	26918046	80431494	168	52787											
BAZ1A	11177	broad.mit.edu	37	chr14	35245154	35245154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaatttctcttcagaaaaaCgggctagctgtgcacatatt	13	12	8	8	1	2	1	1	0	1	1	3	2	2	1	0	1	3	3	0	1	5	5	rs116485187	by1000genomes	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:35245154C>T	ENST00000360310.1	-	18	3371	c.2804G>A	c.(2803-2805)cGt>cAt	p.R935H	BAZ1A_ENST00000382422.2_Missense_Mutation_p.R935H|BAZ1A_ENST00000358716.4_Missense_Mutation_p.R903H	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	935					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCAGAAAAACGGGCTAGCTG	0.353													10	29					0	0	0	0	T	35245154	C	T	35245154	3	4	295	1	0	0	0	0	1	0	0	0	1333	536	19	1	1906	1	BAZ1A	14	35245154	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	8327108	35245154	72104386	169	52788											
SLC8A3	6547	broad.mit.edu	37	chr14	70633784	70633784	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctggcttcagaaccacCgtgccctctgtgaactcata	8	11	7	15	1	4	2	2	1	2	1	5	2	4	2	4	1	3	1	4	1	3	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:70633784C>A	ENST00000381269.2	-	2	2109	c.1356G>T	c.(1354-1356)acG>acT	p.T452T	SLC8A3_ENST00000357887.3_Silent_p.T452T|SLC8A3_ENST00000528359.1_Silent_p.T452T|SLC8A3_ENST00000356921.2_Silent_p.T452T|SLC8A3_ENST00000534137.1_Silent_p.T452T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	452	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCAGAACCACCGTGCCCTCTG	0.488													45	106					1.7489e-18	7.87788e-18	1	0	A	70633784	C	A	70633784	2	1	295	1	0	0	0	0	0	0	0	1	14796	639	23	3		3	SLC8A3	14	70633784	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	35388630	70633784	36715756	170	52789											
SLC8A3	6547	broad.mit.edu	37	chr14	70634902	70634902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatatcagggccacaaaatAgacaatgaccctggcaatct	15	8	8	10	0	2	2	1	1	1	1	2	2	2	2	2	2	0	2	2	2	7	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:70634902A>G	ENST00000381269.2	-	2	991	c.238T>C	c.(238-240)Tat>Cat	p.Y80H	SLC8A3_ENST00000357887.3_Missense_Mutation_p.Y80H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.Y80H|SLC8A3_ENST00000356921.2_Missense_Mutation_p.Y80H|SLC8A3_ENST00000534137.1_Missense_Mutation_p.Y80H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	80					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCCACAAAATAGACAATGACC	0.522													12	24					0	0	0	0	G	70634902	A	G	70634902	3	3	295	1	0	0	0	0	1	0	0	0	14796	420	15	5	2684	5	SLC8A3	14	70634902	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	1118	70634902	36714638	171	52790											
PTPN21	11099	broad.mit.edu	37	chr14	88940131	88940131	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattttttttgcatctactcGagtctttttcattccctgta	7	21	4	9	1	3	0	1	0	2	0	5	1	4	0	1	0	2	2	1	0	3	9			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:88940131G>A	ENST00000556564.1	-	14	2811	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R843*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	843						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCATCTACTCGAGTCTTTTTC	0.398													5	41					0	0	0	0	A	88940131	G	A	88940131	4	1	295	1	0	0	0	0	0	1	0	0	12868	1066	37	1	1021	1	PTPN21	14	88940131	Nonsense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	18305229	88940131	18409409	172	52791											
TECPR2	9895	broad.mit.edu	37	chr14	102900897	102900897	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcacatgggcgggagctGctcaatggagcgagggaaga	11	5	17	8	2	1	1	1	0	0	1	1	5	1	4	0	4	4	3	0	4	2	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:102900897G>T	ENST00000359520.7	+	9	1969	c.1743G>T	c.(1741-1743)ctG>ctT	p.L581L	TECPR2_ENST00000558678.1_Silent_p.L581L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	581							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGCGGGAGCTGCTCAATGGAG	0.532													11	30					1.58986e-06	6.3406e-06	1	0	T	102900897	G	T	102900897	2	4	295	1	0	0	0	0	0	0	0	1	15838	1306	46	4		4	TECPR2	14	102900897	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	13960766	102900897	4448643	173	52792											
SNURF	8926	broad.mit.edu	37	chr15	25213157	25213157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgaactgaggcaggcattCttagctgagacaccaagagg	12	7	13	9	0	1	4	0	3	1	2	1	5	1	4	1	3	2	4	1	3	3	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:25213157C>T	ENST00000338094.6	+	3	250	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SNURF_ENST00000577949.1_Silent_p.F63F|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNURF_ENST00000338327.4_Silent_p.F63F|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		GGCAGGCATTCTTAGCTGAGA	0.468													4	60					0	0	0	0	T	25213157	C	T	25213157	2	4	295	1	0	0	0	0	0	0	0	1	14966	912	32	2		2	SNURF	15	25213157	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08		25213157	77318235	174	52793											
ATP10A	57194	broad.mit.edu	37	chr15	25959362	25959362	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttctatcgtcttcaccggGgacttcagctcaaacctcac	8	12	6	15	2	7	0	4	0	3	0	8	1	7	1	2	2	2	1	2	2	2	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:25959362G>T	ENST00000356865.6	-	10	1914	c.1803C>A	c.(1801-1803)tcC>tcA	p.S601S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	601					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTTCACCGGGGACTTCAGCT	0.607													16	31					6.31663e-08	2.56995e-07	1	0	T	25959362	G	T	25959362	2	4	295	1	0	0	0	0	0	0	0	1	1120	1219	43	4		4	ATP10A	15	25959362	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	746205	25959362	76572030	175	52794											
TJP1	7082	broad.mit.edu	37	chr15	30003119	30003119	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcatactgcgagggcaatgGaggaggagggggagtggcct	9	5	21	6	1	0	0	0	0	0	0	0	5	0	4	1	8	2	2	1	8	2	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:30003119G>C	ENST00000346128.6	-	24	4762	c.4288C>G	c.(4288-4290)Cca>Gca	p.P1430A	TJP1_ENST00000400011.2_Missense_Mutation_p.P1354A|TJP1_ENST00000356107.6_Missense_Mutation_p.P1430A|TJP1_ENST00000545208.2_Missense_Mutation_p.P1350A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1430	Poly-Pro.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GAGGGCAATGGAGGAGGAGGG	0.532													76	109					0	0	0	0	C	30003119	G	C	30003119	3	2	295	1	0	0	0	0	1	0	0	0	16023	1174	41	2	978	2	TJP1	15	30003119	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	4043757	30003119	72528273	176	52795											
TJP1	7082	broad.mit.edu	37	chr15	30033539	30033539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaaaattgtattaccgaaGaatcccatcttcatgagttg	13	15	6	7	1	2	2	1	1	1	1	3	3	3	2	2	0	1	2	2	0	6	7			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:30033539G>A	ENST00000346128.6	-	10	1726	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	TJP1_ENST00000400011.2_Missense_Mutation_p.L422F|TJP1_ENST00000356107.6_Missense_Mutation_p.L418F|TJP1_ENST00000545208.2_Missense_Mutation_p.L418F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	418					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TATTACCGAAGAATCCCATCT	0.338													19	23					0	0	0	0	A	30033539	G	A	30033539	3	1	295	1	0	0	0	0	1	0	0	0	16023	942	33	2	4070	2	TJP1	15	30033539	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	30420	30033539	72497853	177	52796											
SLC12A6	9990	broad.mit.edu	37	chr15	34529660	34529661	+	Frame_Shift_Ins	INS	-	-	A																															cgcctcaatgcgtaagtgatINSataggaaggtggctaggtcc																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:34529660_34529661insA	ENST00000354181.3	-	22	3385_3386	c.2893_2894insT	c.(2893-2895)tcafs	p.S965fs	SLC12A6_ENST00000560164.1_Frame_Shift_Ins_p.S777fs|SLC12A6_ENST00000560611.1_Frame_Shift_Ins_p.S965fs|SLC12A6_ENST00000451844.2_Frame_Shift_Ins_p.S777fs|SLC12A6_ENST00000397702.2_Frame_Shift_Ins_p.S906fs|SLC12A6_ENST00000558589.1_Frame_Shift_Ins_p.S956fs|SLC12A6_ENST00000558667.1_Frame_Shift_Ins_p.S965fs|SLC12A6_ENST00000458406.2_Frame_Shift_Ins_p.S906fs|SLC12A6_ENST00000397707.2_Frame_Shift_Ins_p.S950fs|SLC12A6_ENST00000290209.5_Frame_Shift_Ins_p.S914fs			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	965					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCGTAAGTGATATAGGAAGGTG	0.48													19	41	---	---	---	---					A	34529661	-	A	34529660	7	5	295	1	0	1	1	0	0	0	0	0	14475	1406	49	0	578	0	SLC12A6	15	34529660	Frame_Shift_Ins	INS	-	TCGA-CV-7250-01A-11D-2012-08	4496121	34529660	68001732	178	52797											
MAPKBP1	23005	broad.mit.edu	37	chr15	42107957	42107957	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtgtgtcagccccaatGgacagcatctagcatcaggg	9	8	13	11	1	3	0	2	0	1	0	3	1	3	1	2	3	3	2	2	3	2	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:42107957G>C	ENST00000457542.2	+	12	1739	c.1453G>C	c.(1453-1455)Gga>Cga	p.G485R	MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G491R|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G324R|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G485R|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G368R	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	491										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAGCCCCAATGGACAGCATCT	0.592													10	26					0	0	0	0	C	42107957	G	C	42107957	3	2	295	1	0	0	0	0	1	0	0	0	9361	1349	47	4	1517	4	MAPKBP1	15	42107957	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	7578297	42107957	60423435	179	52798											
USP8	9101	broad.mit.edu	37	chr15	50788056	50788056	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tatttccaggctgataatcgGaagagatataaagaagaaaa	19	9	9	4	1	0	4	0	1	0	3	2	6	1	5	1	2	0	1	1	2	9	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:50788056G>C	ENST00000433963.1	+	18	3170	c.2670G>C	c.(2668-2670)cgG>cgC	p.R890R	USP8_ENST00000425032.3_Silent_p.R784R|USP8_ENST00000396444.3_Silent_p.R890R|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Silent_p.R890R	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	890					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTGATAATCGGAAGAGATATA	0.318													6	16					0	0	0	0	C	50788056	G	C	50788056	2	2	295	1	0	0	0	0	0	0	0	1	17185	1161	41	2		2	USP8	15	50788056	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	8680099	50788056	51743336	180	52799											
ALPK3	57538	broad.mit.edu	37	chr15	85399896	85399896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggaagacgcaggtggatGctgggacacaagaaagcaag	16	4	15	6	1	0	2	0	0	0	2	0	5	0	5	0	4	2	3	0	4	5	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:85399896G>T	ENST00000258888.5	+	6	2700	c.2533G>T	c.(2533-2535)Gct>Tct	p.A845S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	845					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCAGGTGGATGCTGGGACACA	0.547													9	26					5.4927e-09	2.27137e-08	1	0	T	85399896	G	T	85399896	3	4	295	1	0	0	0	0	1	0	0	0	546	1319	46	4	2555	4	ALPK3	15	85399896	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	34611840	85399896	17131496	181	52800											
MAN2A2	4122	broad.mit.edu	37	chr15	91455444	91455444	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcattgactctggcaccAgcgacttcgccctcagcaac	8	9	9	15	2	3	1	2	1	1	0	4	2	3	1	2	1	3	2	2	1	1	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:91455444A>C	ENST00000360468.3	+	14	2299	c.2281A>C	c.(2281-2283)Agc>Cgc	p.S761R	MAN2A2_ENST00000431652.2_Missense_Mutation_p.S269R|MAN2A2_ENST00000559717.1_Missense_Mutation_p.S761R|MAN2A2_ENST00000430376.2_5'UTR	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	761					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTCTGGCACCAGCGACTTCGC	0.637													30	66					0	0	0	0	C	91455444	A	C	91455444	3	2	295	1	0	0	0	0	1	0	0	0	9284	188	7	5	2335	5	MAN2A2	15	91455444	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	6055548	91455444	11075948	182	52801											
PHKB	5257	broad.mit.edu	37	chr16	47627442	47627442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgaatgtgaatttcccaTatttttcctttatatgatga	11	19	5	6	0	0	4	0	4	0	0	2	4	2	4	2	0	0	0	2	0	5	8			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr16:47627442T>C	ENST00000455779.1	+	12	1264	c.1079T>C	c.(1078-1080)aTa>aCa	p.I360T	PHKB_ENST00000299167.8_Missense_Mutation_p.I367T|PHKB_ENST00000323584.5_Missense_Mutation_p.I367T|PHKB_ENST00000566044.1_Missense_Mutation_p.I360T			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	367					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GAATTTCCCATATTTTTCCTT	0.249													10	18					0	0	0	0	C	47627442	T	C	47627442	3	2	295	1	0	0	0	0	1	0	0	0	11917	1406	49	5	1201	5	PHKB	16	47627442	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08		47627442	42727311	183	52802											
CES2	8824	broad.mit.edu	37	chr16	66976677	66976677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttttcagaagtttctttgGgggcaactacagtgagtctt	8	16	11	6	0	3	2	1	1	2	1	3	2	3	2	0	2	2	3	0	2	3	6			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr16:66976677G>A	ENST00000317091.4	+	10	2585	c.1601G>A	c.(1600-1602)gGg>gAg	p.G534E	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Intron	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	470					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		AGTTTCTTTGGGGGCAACTAC	0.527													8	47					0	0	0	0	A	66976677	G	A	66976677	3	1	295	1	0	0	0	0	1	0	0	0	3299	1232	43	4	1639	4	CES2	16	66976677	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	19349235	66976677	23378076	184	52803											
MYH8	4626	broad.mit.edu	37	chr17	10318656	10318656	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agttttggcattgccaaaggCctccagtaggggattggcgc	8	10	14	9	1	0	0	0	0	0	0	1	1	1	1	3	5	1	3	3	5	2	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:10318656C>G	ENST00000403437.2	-	8	788	c.694G>C	c.(694-696)Gcc>Ccc	p.A232P	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	232	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGCCAAAGGCCTCCAGTAGG	0.502									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				28	75					0	0	0	0	G	10318656	C	G	10318656	3	3	295	1	0	0	0	0	1	0	0	0	10111	739	26	4	5251	4	MYH8	17	10318656	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08		10318656	70876554	185	52804											
DNAH9	1770	broad.mit.edu	37	chr17	11573072	11573072	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattattaagaggtggagccTcctgttcaaacagcatcttg	11	13	9	8	0	2	1	1	0	1	1	3	2	3	2	2	2	3	2	2	2	4	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:11573072T>G	ENST00000262442.3	+	17	3382	c.3314T>G	c.(3313-3315)cTc>cGc	p.L1105R	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1105R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1105	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGTGGAGCCTCCTGTTCAAA	0.453													40	95					0	0	0	0	G	11573072	T	G	11573072	3	3	295	1	0	0	0	0	1	0	0	0	4644	1551	54	5	3380	5	DNAH9	17	11573072	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	1254416	11573072	69622138	186	52805											
KCNJ12	3768	broad.mit.edu	37	chr17	21319765	21319765	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacaagttcctgctgcccAgcgccaactccttctgctac	9	9	7	16	1	1	1	0	0	1	1	3	1	3	1	4	0	7	3	4	0	4	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:21319765A>T	ENST00000583088.1	+	3	2006	c.1111A>T	c.(1111-1113)Agc>Tgc	p.S371C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S371C	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCTGCTGCCCAGCGCCAACTC	0.607										Prostate(3;0.18)			5	84					0	0	0	0	T	21319765	A	T	21319765	3	4	295	1	0	0	0	0	1	0	0	0	8099	188	7	5	1113	5	KCNJ12	17	21319765	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	9746693	21319765	59875445	187	52806											
ERBB2	2064	broad.mit.edu	37	chr17	37881982	37881982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgactgtgtgggagctgatGacttttggggccaaacctta	8	12	14	7	0	0	3	0	3	0	0	0	4	0	4	2	3	2	1	2	3	2	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:37881982G>A	ENST00000406381.2	+	25	3168	c.2658G>A	c.(2656-2658)atG>atA	p.M886I	ERBB2_ENST00000445658.2_Missense_Mutation_p.M640I|ERBB2_ENST00000584601.1_Missense_Mutation_p.M886I|ERBB2_ENST00000584450.1_Missense_Mutation_p.M916I|ERBB2_ENST00000541774.1_Missense_Mutation_p.M901I|ERBB2_ENST00000540147.1_Missense_Mutation_p.M886I|ERBB2_ENST00000269571.5_Missense_Mutation_p.M916I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	916	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GGGAGCTGATGACTTTTGGGG	0.602		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			6	64					0	0	0	0	A	37881982	G	A	37881982	3	1	295	1	0	0	0	0	1	0	0	0	5244	1290	45	2	2838	2	ERBB2	17	37881982	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	16562217	37881982	43313228	188	52807											
KRT9	3857	broad.mit.edu	37	chr17	39726431	39726440	+	Frame_Shift_Del	DEL	GTCCAGGAGA	GTCCAGGAGA	-																															gtcatgcgagtgttgtcaatGtccaggagagttttgttgtt																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:39726431_39726440delGTCCAGGAGA	ENST00000246662.4	-	2	740_749	c.675_684delTCTCCTGGAC	c.(673-684)acfs	p.TLLD225fs	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	225	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TGTTGTCAATGTCCAGGAGAGTTTTGTTGT	0.51													10	334	---	---	---	---					-	39726440	GTCCAGGAGA	-	39726431	7	5	295	1	0	1	0	1	0	0	0	0	8553	1368	48	0	1211	0	KRT9	17	39726431	Frame_Shift_Del	DEL	GTCCAGGAGA	TCGA-CV-7250-01A-11D-2012-08	1844449	39726431	41468779	189	52808											
BRCA1	672	broad.mit.edu	37	chr17	41222997	41222997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacattcttttgttgaccCtttctgttgaagctgtcaat	7	18	8	8	0	3	2	1	2	2	0	3	3	3	3	1	1	1	3	1	1	2	6	rs70953661		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:41222997C>A	ENST00000309486.4	-	14	5073	c.4046G>T	c.(4045-4047)aGg>aTg	p.R1349M	BRCA1_ENST00000471181.2_Missense_Mutation_p.R1666M|BRCA1_ENST00000357654.3_Missense_Mutation_p.R1645M|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1598M|BRCA1_ENST00000351666.3_Missense_Mutation_p.R462M|BRCA1_ENST00000591534.1_Missense_Mutation_p.R136M|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.R503M|BRCA1_ENST00000468300.1_Missense_Mutation_p.R541M|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.R541M	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1645					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTGTTGACCCTTTCTGTTGA	0.443			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			59	64					3.00063e-23	1.3762e-22	1	0	A	41222997	C	A	41222997	3	1	295	1	0	0	0	0	1	0	0	0	1506	681	24	4	693	4	BRCA1	17	41222997	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	1496566	41222997	39972213	190	52809											
ASB16	92591	broad.mit.edu	37	chr17	42248236	42248236	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggagtggctggaatgggagGaccggcggcgggcggctgcc	6	4	22	9	4	0	0	0	0	0	0	0	4	0	4	2	9	1	2	2	9	1	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:42248236G>C	ENST00000293414.1	+	1	163	c.79G>C	c.(79-81)Gac>Cac	p.D27H		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	27					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGAATGGGAGGACCGGCGGCG	0.697													10	45					0	0	0	0	C	42248236	G	C	42248236	3	2	295	1	0	0	0	0	1	0	0	0	1024	1174	41	2	81	2	ASB16	17	42248236	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	1025239	42248236	38946974	191	52810											
SKAP1	8631	broad.mit.edu	37	chr17	46239901	46239901	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcaccatggcaatccCataggccctggtagtaactg	9	9	11	12	0	1	0	1	0	0	0	2	0	2	0	3	4	1	4	3	4	4	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:46239901C>T	ENST00000336915.6	-	11	977	c.908G>A	c.(907-909)tGg>tAg	p.W303*	SKAP1_ENST00000584924.1_Nonsense_Mutation_p.W303*	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	303	SH3.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						ATGGCAATCCCATAGGCCCTG	0.463													12	70					0	0	0	0	T	46239901	C	T	46239901	4	4	295	1	0	0	0	0	0	1	0	0	14443	595	21	4	179	4	SKAP1	17	46239901	Nonsense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	3991665	46239901	34955309	192	52811											
HOXB2	3212	broad.mit.edu	37	chr17	46620658	46620658	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggctccagcccgccggcCccgcgcagcgcgcagccggg	3	1	16	21	8	0	0	0	0	0	0	1	0	1	0	7	3	3	3	7	3	0	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:46620658C>T	ENST00000330070.4	-	2	2010	c.843G>A	c.(841-843)ggG>ggA	p.G281G		NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	281					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GCCCGCCGGCCCCGCGCAGCG	0.711													9	48					0	0	0	0	T	46620658	C	T	46620658	2	4	295	1	0	0	0	0	0	0	0	1	7351	610	22	4		4	HOXB2	17	46620658	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	380757	46620658	34574552	193	52812											
CA10	56934	broad.mit.edu	37	chr17	49726560	49726560	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttttatatgttattcttGtgatagtatctctgttgagc	8	21	7	5	0	2	2	0	2	2	0	3	2	2	2	0	0	2	3	0	0	6	10			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:49726560G>C	ENST00000451037.2	-	6	1557	c.617C>G	c.(616-618)aCa>aGa	p.T206R	CA10_ENST00000285273.4_Missense_Mutation_p.T206R|CA10_ENST00000442502.2_Missense_Mutation_p.T206R|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000570565.1_Missense_Mutation_p.T131R|CA10_ENST00000340813.6_Missense_Mutation_p.T212R	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	206					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGTTATTCTTGTGATAGTATC	0.383													5	62					0	0	0	0	C	49726560	G	C	49726560	3	2	295	1	0	0	0	0	1	0	0	0	2536	1377	48	4	385	4	CA10	17	49726560	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	3105902	49726560	31468650	194	52813											
SCPEP1	59342	broad.mit.edu	37	chr17	55072947	55072947	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccgtaaataaggggctctAcagagaggccacagagctgt	12	7	13	9	1	1	2	0	0	1	2	1	3	1	2	2	3	3	3	2	3	4	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:55072947A>G	ENST00000262288.3	+	8	792	c.737A>G	c.(736-738)tAc>tGc	p.Y246C		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	246					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AAGGGGCTCTACAGAGAGGCC	0.498													6	118					0	0	0	0	G	55072947	A	G	55072947	3	3	295	1	0	0	0	0	1	0	0	0	14022	391	14	5	767	5	SCPEP1	17	55072947	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	5346387	55072947	26122263	195	52814											
TTYH2	94015	broad.mit.edu	37	chr17	72233624	72233624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagctgaccaagctatcCgaccagactggctacgtgga	11	7	12	11	2	0	2	0	1	0	1	1	5	1	4	3	3	3	3	3	3	3	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:72233624C>T	ENST00000269346.4	+	4	680	c.606C>T	c.(604-606)tcC>tcT	p.S202S	TTYH2_ENST00000529107.1_Silent_p.S181S	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	202						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCAAGCTATCCGACCAGACTG	0.572													7	64					0	0	0	0	T	72233624	C	T	72233624	2	4	295	1	0	0	0	0	0	0	0	1	16836	639	23	1		1	TTYH2	17	72233624	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	17160677	72233624	8961586	196	52815											
DNAI2	64446	broad.mit.edu	37	chr17	72285736	72285736	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccctctcccctgcagggaCccccaggaaatcaagagggc	9	6	10	16	0	2	1	1	0	1	1	4	3	3	3	5	3	1	1	5	3	2	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:72285736C>T	ENST00000579490.1	+	4	777	c.642C>T	c.(640-642)gaC>gaT	p.D214D	DNAI2_ENST00000307504.5_Silent_p.D14D|DNAI2_ENST00000582036.1_Silent_p.D157D|DNAI2_ENST00000311014.6_Silent_p.D157D|DNAI2_ENST00000446837.2_Silent_p.D157D			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	157					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCTGCAGGGACCCCCAGGAAA	0.547									Kartagener syndrome				22	34					0	0	0	0	T	72285736	C	T	72285736	2	4	295	1	0	0	0	0	0	0	0	1	4646	506	18	4		4	DNAI2	17	72285736	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	52112	72285736	8909474	197	52816											
PGS1	9489	broad.mit.edu	37	chr17	76396892	76396892	+	Frame_Shift_Del	DEL	A	A	-																															gtccctgcagctgcagggggAcgacacggtgcaggtggtgg																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:76396892delA	ENST00000262764.6	+	6	862	c.836delA	c.(835-837)gcfs	p.D280fs	PGS1_ENST00000329897.7_Frame_Shift_Del_p.D145fs|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	280					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CTGCAGGGGGACGACACGGTG	0.637													15	57	---	---	---	---					-	76396892	A	-	76396892	7	5	295	1	0	1	0	1	0	0	0	0	11880	275	10	0	858	0	PGS1	17	76396892	Frame_Shift_Del	DEL	A	TCGA-CV-7250-01A-11D-2012-08	4111156	76396892	4798318	198	52817											
CCDC40	55036	broad.mit.edu	37	chr17	78055742	78055742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcgagctggagctcaGgaggaagacggatgctgcca	10	4	17	10	2	1	1	1	0	0	1	1	6	1	5	2	5	4	3	2	5	1	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:78055742G>T	ENST00000397545.4	+	12	1901	c.1874G>T	c.(1873-1875)aGg>aTg	p.R625M	CCDC40_ENST00000374877.3_Missense_Mutation_p.R625M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	625					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGGAGCTCAGGAGGAAGACG	0.577													9	36					3.09899e-07	1.24082e-06	1	0	T	78055742	G	T	78055742	3	4	295	1	0	0	0	0	1	0	0	0	2838	1000	35	4	1920	4	CCDC40	17	78055742	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	1658850	78055742	3139468	199	52818											
EPB41L3	23136	broad.mit.edu	37	chr18	5415995	5415995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacagggcacaagggacGgtgagcggatcgggaggtaa	13	3	19	6	3	0	1	0	1	0	0	1	5	0	5	0	7	2	2	0	7	3	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr18:5415995G>A	ENST00000341928.2	-	13	2229	c.1889C>T	c.(1888-1890)cCg>cTg	p.P630L	EPB41L3_ENST00000342933.3_Missense_Mutation_p.P630L|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	630	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CACAAGGGACGGTGAGCGGAT	0.542													18	59					0	0	0	0	A	5415995	G	A	5415995	3	1	295	1	0	0	0	0	1	0	0	0	5192	1116	39	1	1414	1	EPB41L3	18	5415995	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08		5415995	72661253	200	52819											
NOL4	8715	broad.mit.edu	37	chr18	31432903	31432903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacaagctgtctcacggcaTtgatttcagttggactcagc	10	11	9	11	1	3	1	3	1	1	0	4	2	3	2	0	2	3	3	0	2	2	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr18:31432903T>C	ENST00000261592.5	-	11	2117	c.1820A>G	c.(1819-1821)aAt>aGt	p.N607S	NOL4_ENST00000589544.1_Missense_Mutation_p.N505S|NOL4_ENST00000538587.1_Missense_Mutation_p.N533S|NOL4_ENST00000535384.1_Missense_Mutation_p.N322S|NOL4_ENST00000535475.1_Missense_Mutation_p.N388S|NOL4_ENST00000269185.4_Missense_Mutation_p.N391S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	607						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTCACGGCATTGATTTCAGT	0.468													25	49					0	0	0	0	C	31432903	T	C	31432903	3	2	295	1	0	0	0	0	1	0	0	0	10594	1493	52	5	100	5	NOL4	18	31432903	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	26016908	31432903	46644345	201	52820											
TSHZ1	10194	broad.mit.edu	37	chr18	73000493	73000493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgtaagctctgcaaccGgacttttgcgagcaagcacg	11	8	10	12	3	1	0	0	0	1	0	1	2	1	1	2	1	6	5	2	1	4	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr18:73000493G>A	ENST00000322038.5	+	2	3580	c.2996G>A	c.(2995-2997)cGg>cAg	p.R999Q	TSHZ1_ENST00000580243.1_Missense_Mutation_p.R1044Q	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	1044						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTCTGCAACCGGACTTTTGCG	0.532													24	53					0	0	0	0	A	73000493	G	A	73000493	3	1	295	1	0	0	0	0	1	0	0	0	16718	1116	39	1	2998	1	TSHZ1	18	73000493	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	41567590	73000493	5076755	202	52821											
APC2	10297	broad.mit.edu	37	chr19	1467216	1467216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcctgccccgagcgcggcGggggcgccgggggcgccggc	1	1	22	17	9	0	0	0	0	0	0	0	1	0	0	5	7	2	0	5	7	0	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:1467216G>A	ENST00000535453.1	+	14	5629	c.3916G>A	c.(3916-3918)Ggg>Agg	p.G1306R	APC2_ENST00000238483.4_Missense_Mutation_p.G1032R|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.G1306R			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1306	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		CGAgcgcggcgggggcgccgg	0.786													4	11					0	0	0	0	A	1467216	G	A	1467216	3	1	295	1	0	0	0	0	1	0	0	0	765	1116	39	1	3970	1	APC2	19	1467216	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08		1467216	57661767	203	52822											
SNAPC2	6618	broad.mit.edu	37	chr19	7986386	7986386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcatccgggtggccttcagGgaccaaggcgccgggaggca	7	5	17	12	3	1	0	1	0	0	0	2	2	2	2	4	6	1	2	4	6	1	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:7986386G>A	ENST00000221573.6	+	2	313	c.262G>A	c.(262-264)Gga>Aga	p.G88R	SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	88					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TGGCCTTCAGGGACCAAGGCG	0.657													21	36					0	0	0	0	A	7986386	G	A	7986386	3	1	295	1	0	0	0	0	1	0	0	0	14923	1233	43	4	268	4	SNAPC2	19	7986386	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	6519170	7986386	51142597	204	52823											
SMARCA4	6597	broad.mit.edu	37	chr19	11105592	11105592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccagaagctgaccaaggCagtggccacgtaccatgcca	13	5	10	13	1	0	2	0	1	0	1	1	2	1	2	5	2	3	3	5	2	4	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:11105592C>A	ENST00000358026.2	+	9	1792	c.1508C>A	c.(1507-1509)gCa>gAa	p.A503E	SMARCA4_ENST00000589677.1_Missense_Mutation_p.A503E|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A503E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A503E|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A503E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	503	HSA.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGACCAAGGCAGTGGCCACG	0.532			"F, N, Mis"		NSCLC								4	21					3.86212e-05	0.000147609	1	0	A	11105592	C	A	11105592	3	1	295	1	0	0	0	0	1	0	0	0	14858	710	25	4	1538	4	SMARCA4	19	11105592	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	3119206	11105592	48023391	205	52824											
SMARCA4	6597	broad.mit.edu	37	chr19	11141507	11141507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacccgggctggggggctcGgcctgaacctccagtcggca	5	5	16	15	3	0	1	0	1	0	0	3	1	1	1	4	6	1	4	4	6	1	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:11141507G>T	ENST00000358026.2	+	25	3768	c.3484G>T	c.(3484-3486)Ggc>Tgc	p.G1162C	SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1162C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1162C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1162	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGGGGGGCTCGGCCTGAACCT	0.607			"F, N, Mis"		NSCLC								6	7					3.59834e-05	0.000139108	1	0	T	11141507	G	T	11141507	3	4	295	1	0	0	0	0	1	0	0	0	14858	1116	39	3	3578	3	SMARCA4	19	11141507	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	35915	11141507	47987476	206	52825											
ZNF844	284391	broad.mit.edu	37	chr19	12187076	12187076	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcccagttcgttttgaaGacatgaaagaactcacactg	12	12	7	10	1	2	4	1	2	1	2	4	4	2	4	1	0	1	2	1	0	3	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:12187076G>C	ENST00000439326.3	+	4	1316	c.1141G>C	c.(1141-1143)Gac>Cac	p.D381H	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCGTTTTGAAGACATGAAAGA	0.383													7	21					0	0	0	0	C	12187076	G	C	12187076	3	2	295	1	0	0	0	0	1	0	0	0	18283	942	33	2	1155	2	ZNF844	19	12187076	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	1045569	12187076	46941907	207	52826											
ZNF486	90649	broad.mit.edu	37	chr19	20308131	20308131	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actacacataaaaaaattgaTactggagagaaaccatacaa	22	7	5	7	0	0	2	0	1	0	1	0	4	0	3	1	1	4	0	1	1	9	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:20308131T>C	ENST00000335117.8	+	4	669	c.612T>C	c.(610-612)gaT>gaC	p.D204D	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AAAAAATTGATACTGGAGAGA	0.358													18	38					0	0	0	0	C	20308131	T	C	20308131	2	2	295	1	0	0	0	0	0	0	0	1	18034	1403	49	5		5	ZNF486	19	20308131	Silent	SNP	T	TCGA-CV-7250-01A-11D-2012-08	8121055	20308131	38820852	208	52827											
ZNF568	374900	broad.mit.edu	37	chr19	37441482	37441482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagagaaaccttatgaatGcagtgaatgtgggaaagctt	14	10	13	4	0	0	3	0	2	0	1	0	6	0	5	1	2	3	2	1	2	5	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:37441482G>A	ENST00000415168.1	+	5	1611	c.1235G>A	c.(1234-1236)tGc>tAc	p.C412Y	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.C476Y	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTATGAATGCAGTGAATGT	0.393													20	61					0	0	0	0	A	37441482	G	A	37441482	3	1	295	1	0	0	0	0	1	0	0	0	18094	1319	46	4	1445	4	ZNF568	19	37441482	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	17133351	37441482	21687501	209	52828											
ZNF585B	92285	broad.mit.edu	37	chr19	37677286	37677286	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctctcccacagtcacTgcattcataaggtttctctc	9	12	7	13	0	4	0	2	0	2	0	7	1	4	0	1	2	1	3	1	2	2	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:37677286T>A	ENST00000532828.2	-	5	1404	c.1153A>T	c.(1153-1155)Agt>Tgt	p.S385C	ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S330C	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCACAGTCACTGCATTCATAA	0.428													10	56					0	0	0	0	A	37677286	T	A	37677286	3	1	295	1	0	0	0	0	1	0	0	0	18113	1580	55	5	1160	5	ZNF585B	19	37677286	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	235804	37677286	21451697	210	52829											
SIPA1L3	23094	broad.mit.edu	37	chr19	38652910	38652910	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagagcctttgtggcatgtgCctgcccaggccaggctctca	6	9	12	14	0	1	1	1	0	1	1	2	1	1	1	4	3	3	2	4	3	0	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:38652910C>G	ENST00000222345.6	+	14	4188	c.3679C>G	c.(3679-3681)Cct>Gct	p.P1227A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1227					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTGGCATGTGCCTGCCCAGGC	0.582													4	51					0	0	0	0	G	38652910	C	G	38652910	3	3	295	1	0	0	0	0	1	0	0	0	14419	739	26	4	3725	4	SIPA1L3	19	38652910	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	975624	38652910	20476073	211	52830											
SERTAD1	29950	broad.mit.edu	37	chr19	40929342	40929342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagctagaggccacggccgGgggtgcctgtgccaccgctg	5	5	18	13	3	0	1	0	0	0	1	0	2	0	2	5	5	3	2	5	5	1	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:40929342G>A	ENST00000357949.4	-	2	270	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	38	SERTA.				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCACGGCCGGGGGTGCCTGT	0.647													12	21					0	0	0	0	A	40929342	G	A	40929342	3	1	295	1	0	0	0	0	1	0	0	0	14207	1232	43	4	602	4	SERTAD1	19	40929342	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	2276432	40929342	18199641	212	52831											
PSG7	5676	broad.mit.edu	37	chr19	43433722	43433722	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttggtttcagacagcTgcaagctgtgagtcataggg	8	12	13	8	0	2	2	2	1	0	1	3	2	3	2	1	2	3	5	1	2	2	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:43433722T>A	ENST00000446844.3	-	0	670				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTCAGACAGCTGCAAGCTGTG	0.512													138	254					0	0	0	0	A	43433722	T	A	43433722	1	1	295	0	1	0	0	0	0	0	0	0	12739	1580	55	5		5	PSG7	19	43433722	RNA	SNP	T	TCGA-CV-7250-01A-11D-2012-08	2504380	43433722	15695261	213	52832											
PRR12	57479	broad.mit.edu	37	chr19	50099588	50099588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggcttggtgggcgaggacGgggcagcagatgcctctaag	8	6	18	9	3	1	1	0	0	1	1	1	3	1	2	1	6	2	3	1	6	1	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:50099588G>A	ENST00000418929.2	+	4	2008	c.1996G>A	c.(1996-1998)Ggg>Agg	p.G666R		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	412	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)		GGGCGAGGACGGGGCAGCAGA	0.672													4	11					0	0	0	0	A	50099588	G	A	50099588	3	1	295	1	0	0	0	0	1	0	0	0	12664	1116	39	1	2010	1	PRR12	19	50099588	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	6665866	50099588	9029395	214	52833											
SIGLEC9	27180	broad.mit.edu	37	chr19	51633226	51633226	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcccgctcctcagtggggGaaggagagctccagtatgca	8	7	14	12	1	1	1	1	0	0	1	3	3	3	2	3	3	3	4	3	3	2	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:51633226G>T	ENST00000250360.3	+	7	1349	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	428					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTCAGTGGGGGAAGGAGAGCT	0.607													9	77					0.000274275	0.00103263	1	0	T	51633226	G	T	51633226	4	4	295	1	0	0	0	0	0	1	0	0	14403	1175	41	2	1308	2	SIGLEC9	19	51633226	Nonsense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	1533638	51633226	7495757	215	52834											
ZNF808	388558	broad.mit.edu	37	chr19	53058290	53058290	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagtggaatgaaaccttaCaagtgtaatgagtgcagcaa	16	8	10	7	0	0	2	0	2	0	0	0	3	0	3	1	1	4	3	1	1	6	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:53058290C>T	ENST00000359798.4	+	5	2301	c.2121C>T	c.(2119-2121)taC>taT	p.Y707Y		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGAAACCTTACAAGTGTAATG	0.413													19	250					0	0	0	0	T	53058290	C	T	53058290	2	4	295	1	0	0	0	0	0	0	0	1	18266	489	17	4		4	ZNF808	19	53058290	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	1425064	53058290	6070693	216	52835											
VN1R2	317701	broad.mit.edu	37	chr19	53762612	53762612	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcacctttgcattatgttaCgccctttccttcatcaccta	8	15	4	14	1	2	0	2	0	0	0	3	0	3	0	4	0	3	3	4	0	3	6			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:53762612C>T	ENST00000341702.3	+	1	1068	c.984C>T	c.(982-984)taC>taT	p.Y328Y	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	328					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CATTATGTTACGCCCTTTCCT	0.443													45	109					0	0	0	0	T	53762612	C	T	53762612	2	4	295	1	0	0	0	0	0	0	0	1	17275	547	19	1		1	VN1R2	19	53762612	Silent	SNP	C	TCGA-CV-7250-01A-11D-2012-08	704322	53762612	5366371	217	52836											
CACNG6	59285	broad.mit.edu	37	chr19	54496175	54496175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaggagaaccggcggcGgggggccgcgggccggcggc	6	0	23	12	7	0	2	0	0	0	2	0	3	0	2	3	9	1	1	3	9	2	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:54496175G>C	ENST00000252729.2	+	1	634	c.44G>C	c.(43-45)cGg>cCg	p.R15P	CACNG6_ENST00000346968.2_Missense_Mutation_p.R15P|CACNG6_ENST00000352529.1_Missense_Mutation_p.R15P	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	15						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AAccggcggcggggggccgcg	0.736													8	17					0	0	0	0	C	54496175	G	C	54496175	3	2	295	1	0	0	0	0	1	0	0	0	2586	1116	39	3	46	3	CACNG6	19	54496175	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	733563	54496175	4632808	218	52837											
KIR2DL1	3802	broad.mit.edu	37	chr19	55294944	55294944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatcttctacagatgctgCggtaatggaccaagagtctg	10	11	10	10	1	3	2	0	0	3	2	4	3	4	3	2	2	3	2	2	2	3	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:55294944C>T	ENST00000336077.6	+	7	864	c.824C>T	c.(823-825)gCg>gTg	p.A275V	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A301V|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.A275V	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	275					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ACAGATGCTGCGGTAATGGAC	0.517													11	55					0	0	0	0	T	55294944	C	T	55294944	3	4	295	1	0	0	0	0	1	0	0	0	8368	768	27	1	850	1	KIR2DL1	19	55294944	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	798769	55294944	3834039	219	52838											
ZNF550	162972	broad.mit.edu	37	chr19	58058918	58058918	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcccacatgcattgcattCatagggtttcattccagtgt	8	16	7	10	0	2	0	2	0	0	0	4	0	4	0	2	1	2	3	2	1	1	6			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:58058918C>G	ENST00000325134.5	-	3	754	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.E191Q|ZNF550_ENST00000457177.1_Missense_Mutation_p.E232Q|ZNF549_ENST00000594943.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		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;0.026)		GCATTGCATTCATAGGGTTTC	0.488													16	38					0	0	0	0	G	58058918	C	G	58058918	3	3	295	1	0	0	0	0	1	0	0	0	18077	835	29	2	578	2	ZNF550	19	58058918	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	2763974	58058918	1070065	220	52839											
PAK7	57144	broad.mit.edu	37	chr20	9561116	9561116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagaggggagctactcgaGgctctctgatactcccactt	8	10	10	13	1	1	2	0	1	1	1	5	4	3	3	2	3	3	2	2	3	2	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:9561116G>A	ENST00000378429.3	-	5	1212	c.666C>T	c.(664-666)gcC>gcT	p.A222A	PAK7_ENST00000353224.5_Silent_p.A222A|PAK7_ENST00000378423.1_Silent_p.A222A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	222	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGCTACTCGAGGCTCTCTGAT	0.488													15	35					0	0	0	0	A	9561116	G	A	9561116	2	1	295	1	0	0	0	0	0	0	0	1	11476	987	35	4		4	PAK7	20	9561116	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08		9561116	53464404	221	52840											
RALGAPA2	57186	broad.mit.edu	37	chr20	20616166	20616166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatccacttaataaaaacaaCacgagctgccatatatggaa	19	8	5	9	1	0	0	0	0	0	0	1	2	1	1	2	1	4	1	2	1	9	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:20616166C>T	ENST00000202677.6	-	9	1043	c.901G>A	c.(901-903)Gtt>Att	p.V301I		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	301					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATAAAAACAACACGAGCTGCC	0.358													6	121					0	0	0	0	T	20616166	C	T	20616166	3	4	295	1	0	0	0	0	1	0	0	0	13096	478	17	4	4844	4	RALGAPA2	20	20616166	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	11055050	20616166	42409354	222	52841											
NECAB3	63941	broad.mit.edu	37	chr20	32247476	32247476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccttgcactcgagctggtCgatgagctcctggaggcggt	6	9	14	12	3	0	1	0	1	0	0	3	4	1	2	2	4	3	3	2	4	0	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:32247476C>T	ENST00000246190.6	-	8	761	c.706G>A	c.(706-708)Gac>Aac	p.D236N	NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Missense_Mutation_p.D236N	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	236					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						TCGAGCTGGTCGATGAGCTCC	0.706													4	9					0	0	0	0	T	32247476	C	T	32247476	3	4	295	1	0	0	0	0	1	0	0	0	10376	884	31	1	504	1	NECAB3	20	32247476	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	11631310	32247476	30778044	223	52842											
CEP250	11190	broad.mit.edu	37	chr20	34078580	34078580	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagaaatggaggccatcCaggcccagagggaagaagaa	17	2	14	8	0	0	5	0	0	0	5	1	7	1	7	3	4	0	0	3	4	4	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:34078580C>T	ENST00000397527.1	+	21	3424	c.2704C>T	c.(2704-2706)Cag>Tag	p.Q902*	RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000453914.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	902	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAGGCCATCCAGGCCCAGAG	0.557													9	77					0	0	0	0	T	34078580	C	T	34078580	4	4	295	1	0	0	0	0	0	1	0	0	3281	595	21	4	2774	4	CEP250	20	34078580	Nonsense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	1831104	34078580	28946940	224	52843											
KIAA1755	85449	broad.mit.edu	37	chr20	36869729	36869729	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagtctccctcgaagtcctgGctgaccacctcgtccatcct	6	11	7	17	2	1	1	0	1	1	0	7	2	4	1	6	1	0	1	6	1	2	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:36869729G>A	ENST00000279024.4	-	3	1075	c.804C>T	c.(802-804)agC>agT	p.S268S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	268										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CGAAGTCCTGGCTGACCACCT	0.572													11	75					0	0	0	0	A	36869729	G	A	36869729	2	1	295	1	0	0	0	0	0	0	0	1	8308	1194	42	4		4	KIAA1755	20	36869729	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	2791149	36869729	26155791	225	52844											
JPH2	57158	broad.mit.edu	37	chr20	42815270	42815270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcctgtgcacagtccatGcccatgggcctttcccccct	4	9	11	17	0	0	0	0	0	0	0	2	0	2	0	7	3	2	1	7	3	0	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:42815270G>T	ENST00000372980.3	-	1	948	c.76C>A	c.(76-78)Cat>Aat	p.H26N	JPH2_ENST00000342272.3_Missense_Mutation_p.H26N	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	26	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CACAGTCCATGCCCATGGGCC	0.622													8	43					2.17888e-05	8.48837e-05	1	0	T	42815270	G	T	42815270	3	4	295	1	0	0	0	0	1	0	0	0	8014	1319	46	4	2049	4	JPH2	20	42815270	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	5945541	42815270	20210250	226	52845											
BAGE2	85319	broad.mit.edu	37	chr21	11085940	11085942	+	RNA	DEL	CAC	CAC	-																															accaccaccaccaccaccatCaccaccaccaccaccatcaa																										TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr21:11085940_11085942delCAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccatcaccaccaccacc	0.532													2	4	---	---	---	---					-	11085942	CAC	-	11085940	6	5	295	0	1	1	0	1	0	0	0	0	1296	841	29	0		0	BAGE2	21	11085940	RNA	DEL	CAC	TCGA-CV-7250-01A-11D-2012-08		11085940	37043955	227	52846											
KRTAP19-7	337974	broad.mit.edu	37	chr21	31933565	31933565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccaccgaatcctccaCagccgtagcctaggcctcca	9	5	8	19	2	0	0	0	0	0	0	3	1	3	0	9	2	2	1	9	2	3	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr21:31933565C>T	ENST00000334849.2	-	1	68	c.44G>A	c.(43-45)tGt>tAt	p.C15Y		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	15						intermediate filament				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						GAATCCTCCACAGCCGTAGCC	0.552													23	75					0	0	0	0	T	31933565	C	T	31933565	3	4	295	1	0	0	0	0	1	0	0	0	8586	478	17	4	150	4	KRTAP19-7	21	31933565	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	20847625	31933565	16196330	228	52847											
CECR2	27443	broad.mit.edu	37	chr22	18031816	18031816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcataagcctccaacacttCccctggatcaggtaaggatc	11	9	7	14	0	2	0	2	0	0	0	5	2	4	2	4	3	2	1	4	3	3	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:18031816C>T	ENST00000262608.8	+	17	4315	c.4315C>T	c.(4315-4317)Ccc>Tcc	p.P1439S	CECR2_ENST00000400585.2_Missense_Mutation_p.P1296S|CECR2_ENST00000400573.4_Missense_Mutation_p.P1438S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1480					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCCAACACTTCCCCTGGATCA	0.498													12	32					0	0	0	0	T	18031816	C	T	18031816	3	4	295	1	0	0	0	0	1	0	0	0	3235	855	30	2	4380	2	CECR2	22	18031816	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08		18031816	33272750	229	52848											
PIWIL3	440822	broad.mit.edu	37	chr22	25131809	25131809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggcattgcattaagtaaGggtaattctcttatttctct	10	17	8	6	0	2	0	0	0	2	0	4	0	2	0	0	2	1	4	0	2	4	7			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:25131809G>A	ENST00000332271.5	-	13	1916	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	PIWIL3_ENST00000533313.1_Silent_p.P391P|PIWIL3_ENST00000527701.1_Silent_p.P391P|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	500					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CATTAAGTAAGGGTAATTCTC	0.383													39	103					0	0	0	0	A	25131809	G	A	25131809	2	1	295	1	0	0	0	0	0	0	0	1	12031	987	35	4		4	PIWIL3	22	25131809	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	7099993	25131809	26172757	230	52849											
CCDC117	150275	broad.mit.edu	37	chr22	29169754	29169754	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacacaagcgagaggaggAggaggatgatgagtaagttt	16	6	16	3	1	0	3	0	2	0	1	0	9	0	7	0	4	2	2	0	4	3	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:29169754A>T	ENST00000443309.2	+	0	122				CCDC117_ENST00000421503.2_Missense_Mutation_p.E76V|CCDC117_ENST00000448492.2_Intron|CCDC117_ENST00000249064.4_Missense_Mutation_p.E76V			Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117											breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						CGAGAGGAGGAGGAGGATGAT	0.373													9	11					0	0	0	0	T	29169754	A	T	29169754	1	4	295	1	0	0	0	0	0	0	0	0	2779	304	11	5		5	CCDC117	22	29169754	Translation_Start_Site	SNP	A	TCGA-CV-7250-01A-11D-2012-08	4037945	29169754	22134812	231	52850											
SYNGR1	9145	broad.mit.edu	37	chr22	39772188	39772188	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgccttctcctttttcTccatcttcacctgggtgagt	4	16	6	15	1	4	1	1	1	3	0	7	1	4	1	5	1	0	0	5	1	0	4			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:39772188T>G	ENST00000328933.5	+	3	484	c.469T>G	c.(469-471)Tcc>Gcc	p.S157A	SYNGR1_ENST00000318801.4_Missense_Mutation_p.S157A|SYNGR1_ENST00000406293.3_Missense_Mutation_p.S157A|SYNGR1_ENST00000381535.4_Missense_Mutation_p.S158A	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					CTCCTTTTTCTCCATCTTCAC	0.637													35	51					0	0	0	0	G	39772188	T	G	39772188	3	3	295	1	0	0	0	0	1	0	0	0	15539	1551	54	5	585	5	SYNGR1	22	39772188	Missense_Mutation	SNP	T	TCGA-CV-7250-01A-11D-2012-08	10602434	39772188	11532378	232	52851											
CERK	64781	broad.mit.edu	37	chr22	47103761	47103761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggaatgattccaatccGgaggctactggggaccagca	10	7	14	10	2	0	1	0	1	0	0	2	4	2	4	3	5	3	2	3	5	3	2			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:47103761G>A	ENST00000216264.8	-	6	806	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	CERK_ENST00000541677.1_Missense_Mutation_p.R34W	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	232	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATTCCAATCCGGAGGCTACTG	0.602													16	109					0	0	0	0	A	47103761	G	A	47103761	3	1	295	1	0	0	0	0	1	0	0	0	3296	1115	39	1	951	1	CERK	22	47103761	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	7331573	47103761	4200805	233	52852											
MAPK11	5600	broad.mit.edu	37	chr22	50705870	50705870	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgcctggcacttgacgAtgttgttcaggtcggcgccc	5	10	13	13	4	2	1	2	1	0	0	3	2	2	1	2	3	1	3	2	3	0	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:50705870A>T	ENST00000330651.6	-	4	447	c.347T>A	c.(346-348)aTc>aAc	p.I116N	MAPK11_ENST00000449719.2_Missense_Mutation_p.I8N|MAPK11_ENST00000495277.1_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	116	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCACTTGACGATGTTGTTCAG	0.682													9	12					0	0	0	0	T	50705870	A	T	50705870	3	4	295	1	0	0	0	0	1	0	0	0	9342	333	12	5	783	5	MAPK11	22	50705870	Missense_Mutation	SNP	A	TCGA-CV-7250-01A-11D-2012-08	3602109	50705870	598696	234	52853											
MAGEB18	286514	broad.mit.edu	37	chrX	26157205	26157205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggccactgtggcagaaGgagagtcaccctcccctgcc	8	5	12	16	1	1	2	1	0	0	2	2	3	2	2	5	3	1	2	5	3	1	0			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:26157205G>A	ENST00000325250.1	+	2	290	c.103G>A	c.(103-105)Gga>Aga	p.G35R		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	35							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGTGGCAGAAGGAGAGTCACC	0.587													5	15					0	0	0	0	A	26157205	G	A	26157205	3	1	295	1	0	0	0	0	1	0	0	0	9244	1001	35	4	105	4	MAGEB18	23	26157205	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08		26157205	129113355	235	52854											
CASK	8573	broad.mit.edu	37	chrX	41390289	41390289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtccagtattgcaatcaGcccctgctcgtggatcttcc	7	11	8	15	2	2	0	1	0	1	0	5	1	4	1	4	1	3	3	4	1	2	3			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:41390289G>A	ENST00000318588.9	-	25	2521	c.2476C>T	c.(2476-2478)Ctg>Ttg	p.L826L	CASK_ENST00000361962.4_Silent_p.L814L|CASK_ENST00000421587.2_Silent_p.L802L|CASK_ENST00000378158.1_Silent_p.L814L|CASK_ENST00000378163.1_Silent_p.L831L|CASK_ENST00000378166.4_Silent_p.L826L|CASK_ENST00000442742.2_Silent_p.L803L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	831	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ATTGCAATCAGCCCCTGCTCG	0.512													28	12					0	0	0	0	A	41390289	G	A	41390289	2	1	295	1	0	0	0	0	0	0	0	1	2690	962	34	4		4	CASK	23	41390289	Silent	SNP	G	TCGA-CV-7250-01A-11D-2012-08	15233084	41390289	113880271	236	52855											
TCEAL2	140597	broad.mit.edu	37	chrX	101382277	101382277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatataaggaagccatacatGatatgaatttcagcaatgag	18	10	8	5	0	1	3	1	3	0	0	1	4	1	4	1	1	3	1	1	1	8	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:101382277G>T	ENST00000372780.1	+	3	694	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	TCEAL2_ENST00000329035.2_Missense_Mutation_p.D159Y	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AGCCATACATGATATGAATTT	0.428													11	58					1.33987e-11	5.68037e-11	1	0	T	101382277	G	T	101382277	3	4	295	1	0	0	0	0	1	0	0	0	15765	1290	45	2	477	2	TCEAL2	23	101382277	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	59991988	101382277	53888283	237	52856											
TEX13A	56157	broad.mit.edu	37	chrX	104464103	104464103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccttctgcccccaatagGtgtacttttcctgatcagca	7	13	6	15	0	2	1	1	1	1	0	4	1	4	1	5	1	3	2	5	1	3	5			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:104464103G>T	ENST00000372578.3	-	3	886	c.775C>A	c.(775-777)Cct>Act	p.P259T	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.T258N|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.P259T	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCCCAATAGGTGTACTTTTC	0.562													15	5					1.15088e-07	4.62644e-07	1	0	T	104464103	G	T	104464103	3	4	295	1	0	0	0	0	1	0	0	0	15870	1261	44	4	460	4	TEX13A	23	104464103	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	3081826	104464103	50806457	238	52857											
GPR119	139760	broad.mit.edu	37	chrX	129518927	129518927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaggagagggtcagcacGaagtgagggtgaaatacagc	14	4	16	7	2	1	3	1	2	0	1	1	5	1	3	0	3	3	2	0	3	3	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:129518927G>T	ENST00000276218.2	-	1	584	c.495C>A	c.(493-495)ttC>ttA	p.F165L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	165						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GGGTCAGCACGAAGTGAGGGT	0.532													21	13					2.54575e-18	1.14163e-17	1	0	T	129518927	G	T	129518927	3	4	295	1	0	0	0	0	1	0	0	0	6683	1049	37	3	516	3	GPR119	23	129518927	Missense_Mutation	SNP	G	TCGA-CV-7250-01A-11D-2012-08	25054824	129518927	25751633	239	52858											
FLNA	2316	broad.mit.edu	37	chrX	153588903	153588903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttggtgtcgatggtgaagCgggcgggggagcccgcactg	5	7	19	10	4	0	1	0	1	0	0	1	3	0	2	2	5	2	1	2	5	1	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:153588903C>T	ENST00000422373.1	-	22	3508	c.3260G>A	c.(3259-3261)cGc>cAc	p.R1087H	FLNA_ENST00000344736.4_Missense_Mutation_p.R1087H|FLNA_ENST00000360319.4_Missense_Mutation_p.R1087H|FLNA_ENST00000369850.3_Missense_Mutation_p.R1087H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1087					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GATGGTGAAGCGGGCGGGGGA	0.692											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	14					0	0	0	0	T	153588903	C	T	153588903	3	4	295	1	0	0	0	0	1	0	0	0	5978	768	27	1	4791	1	FLNA	23	153588903	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08	24069976	153588903	1681657	240	52859											
TSPY1	7258	broad.mit.edu	37	chrY	9305927	9305927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggtgggagaagagaagcatCctgttcatctctgcaagatc	12	9	12	8	0	2	3	1	0	1	3	5	5	3	3	1	2	2	3	1	2	3	1			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrY:9305927C>G	ENST00000451548.1	+	3	629	c.583C>G	c.(583-585)Cct>Gct	p.P195A	TSPY1_ENST00000423647.2_Missense_Mutation_p.P201A|AC006156.1_ENST00000450145.1_Intron|TSPY3_ENST00000440483.1_Intron|AC006156.1_ENST00000423213.1_Intron	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN	testis specific protein, Y-linked 1	195			P -> R.		cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding			lung(4)	4						AGAGAAGCATCCTGTTCATCT	0.443													20	139					0	0	0	0	G	9305927	C	G	9305927	3	3	295	1	0	0	0	0	1	0	0	0	16752	855	30	2	593	2	TSPY1	24	9305927	Missense_Mutation	SNP	C	TCGA-CV-7250-01A-11D-2012-08		9305927	50067639	241	52860											
DVL1	1855	broad.mit.edu	37	chr1	1273500	1273500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcagccgggtggggcagcGgggccagcgtgtcctgatcc	4	5	20	12	3	0	1	0	1	0	0	2	1	2	1	4	6	3	2	4	6	0	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:1273500G>A	ENST00000378888.5	-	14	1855	c.1571C>T	c.(1570-1572)cCg>cTg	p.P524L	DVL1_ENST00000378891.5_Missense_Mutation_p.P499L			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	524					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTGGGGCAGCGGGGCCAGCGT	0.721													7	16					0	0	0	0	A	1273500	G	A	1273500	3	1	296	1	0	0	0	0	1	0	0	0	4871	1116	39	1	524	1	DVL1	1	1273500	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08		1273500	247977121	1	52861											
PTCHD2	57540	broad.mit.edu	37	chr1	11579445	11579445	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagccggaagacctccctGcacttccccggagacgtgtt	7	8	11	15	3	0	2	0	0	0	2	2	4	2	3	5	2	3	3	5	2	1	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:11579445G>T	ENST00000294484.6	+	8	2061	c.1923G>T	c.(1921-1923)ctG>ctT	p.L641L	PTCHD2_ENST00000389575.3_Silent_p.L641L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	641					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGACCTCCCTGCACTTCCCCG	0.652													55	159					7.06795e-37	2.84057e-36	1	0	T	11579445	G	T	11579445	2	4	296	1	0	0	0	0	0	0	0	1	12812	1306	46	4		4	PTCHD2	1	11579445	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	10305945	11579445	237671176	2	52862											
EPHA2	1969	broad.mit.edu	37	chr1	16456829	16456829	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggcacgctcctgctgcCagcactgcatcatgagctgg	6	7	14	14	2	1	1	1	1	0	0	2	1	2	1	2	3	5	6	2	3	0	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:16456829C>T	ENST00000358432.5	-	15	2715	c.2561G>A	c.(2560-2562)tGg>tAg	p.W854*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	854	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTCCTGCTGCCAGCACTGCAT	0.612													16	51					0	0	0	0	T	16456829	C	T	16456829	4	4	296	1	0	0	0	0	0	1	0	0	5205	595	21	4	381	4	EPHA2	1	16456829	Nonsense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	4877384	16456829	232793792	3	52863											
EPHA2	1969	broad.mit.edu	37	chr1	16475160	16475161	+	Frame_Shift_Ins	INS	-	-	A																															gatatcctggaaggccaggtINSagaagcctttgcgggtgagc																										TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:16475160_16475161insA	ENST00000358432.5	-	3	689_690	c.535_536insT	c.(535-537)cctfs	p.P179fs	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	179					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GAAGGCCAGGTAGAAGCCTTTG	0.644													20	66	---	---	---	---					A	16475161	-	A	16475160	7	5	296	1	0	1	1	0	0	0	0	0	5205	1638	57	0	2454	0	EPHA2	1	16475160	Frame_Shift_Ins	INS	-	TCGA-CV-7252-01A-11D-2012-08	18331	16475160	232775461	4	52864											
KIF17	57576	broad.mit.edu	37	chr1	21031314	21031314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgctcgcccgtggccccgGtcttggactgccgctcgctg	1	8	14	18	6	1	0	0	0	1	0	3	1	1	1	5	3	1	3	5	3	0	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:21031314G>A	ENST00000247986.2	-	5	1059	c.749C>T	c.(748-750)aCc>aTc	p.T250I	KIF17_ENST00000375044.1_Missense_Mutation_p.T150I|KIF17_ENST00000400463.3_Missense_Mutation_p.T250I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	250	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGTGGCCCCGGTCTTGGACTG	0.667													11	78					0	0	0	0	A	21031314	G	A	21031314	3	1	296	1	0	0	0	0	1	0	0	0	8330	1261	44	4	2384	4	KIF17	1	21031314	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	4556154	21031314	228219307	5	52865											
ZBTB40	9923	broad.mit.edu	37	chr1	22816681	22816681	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttggaaatgatgtacacGggcaaactacctgtgggcaa	12	10	12	7	1	0	1	0	1	0	0	0	2	0	2	1	3	3	4	1	3	5	4	rs138737436		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:22816681G>A	ENST00000404138.1	+	3	751	c.240G>A	c.(238-240)acG>acA	p.T80T	ZBTB40_ENST00000375647.4_Silent_p.T80T|ZBTB40_ENST00000374651.4_Silent_p.T80T	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	80	BTB.				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGATGTACACGGGCAAACTAC	0.463													9	60					0	0	0	0	A	22816681	G	A	22816681	2	1	296	1	0	0	0	0	0	0	0	1	17637	1103	39	1		1	ZBTB40	1	22816681	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	1785367	22816681	226433940	6	52866											
C1orf172	126695	broad.mit.edu	37	chr1	27277199	27277199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccataaggcctcagcttcCgggcgatggcatctgcagtc	7	9	11	14	2	2	0	1	0	1	0	5	1	4	0	3	3	2	3	3	3	1	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:27277199C>A	ENST00000320567.5	-	3	1176	c.1088G>T	c.(1087-1089)cGg>cTg	p.R363L		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	363										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CCTCAGCTTCCGGGCGATGGC	0.597													33	120					5.71845e-15	2.19829e-14	1	0	A	27277199	C	A	27277199	3	1	296	1	0	0	0	0	1	0	0	0	2032	652	23	3	116	3	C1orf172	1	27277199	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	4460518	27277199	221973422	7	52867											
C1orf172	126695	broad.mit.edu	37	chr1	27278782	27278783	+	Frame_Shift_Del	DEL	AT	AT	-																															gggggctgaggtggtttatcAtatgtctccagacatagctc																										TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:27278782_27278783delAT	ENST00000320567.5	-	2	177_178	c.89_90delAT	c.(88-90)tfs	p.Y30fs		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	30	Pro-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGTTTATCATATGTCTCCAG	0.629													22	63	---	---	---	---					-	27278783	AT	-	27278782	7	5	296	1	0	1	0	1	0	0	0	0	2032	224	8	0	1118	0	C1orf172	1	27278782	Frame_Shift_Del	DEL	AT	TCGA-CV-7252-01A-11D-2012-08	1583	27278782	221971839	8	52868											
NT5C1A	84618	broad.mit.edu	37	chr1	40131889	40131889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggacacagcgatggtgActgcattctgaggcttgggc	8	8	17	8	1	1	2	0	2	1	0	1	5	1	4	0	5	2	2	0	5	0	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:40131889A>G	ENST00000235628.1	-	2	154	c.155T>C	c.(154-156)gTc>gCc	p.V52A		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	52					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCGATGGTGACTGCATTCTG	0.592													7	36					0	0	0	0	G	40131889	A	G	40131889	3	3	296	1	0	0	0	0	1	0	0	0	10756	275	10	5	971	5	NT5C1A	1	40131889	Missense_Mutation	SNP	A	TCGA-CV-7252-01A-11D-2012-08	12853107	40131889	209118732	9	52869											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43630439	43630439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctttccaccaaaacCaaacttctggtttttatacc	10	17	2	12	0	3	0	0	0	3	0	4	0	4	0	4	1	3	1	4	1	5	8			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:43630439C>A	ENST00000431635.2	-	9	1058	c.910G>T	c.(910-912)Ggt>Tgt	p.G304C	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.G249C	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	249					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCACCAAAACCAAACTTCTGG	0.483													19	60					1.15919e-05	4.15506e-05	1	0	A	43630439	C	A	43630439	3	1	296	1	0	0	0	0	1	0	0	0	4921	594	21	4	183	4	EBNA1BP2	1	43630439	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	3498550	43630439	205620182	10	52870											
ATP6V0B	533	broad.mit.edu	37	chr1	44441472	44441472	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctccctcactgctgcagGagtctgctacaccatttttg	6	15	7	13	0	3	0	1	0	2	0	4	1	3	1	2	1	4	3	2	1	1	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:44441472G>T	ENST00000532642.1	+	2	165	c.67_splice	c.e2-1	p.G23_splice	ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000472174.2_Splice_Site_p.G23_splice|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000471859.2_Intron			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	23					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	p.G23V(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ACTGCTGCAGGAGTCTGCTAC	0.552													49	171					4.32865e-36	1.73309e-35	1	0	T	44441472	G	T	44441472	5	4	296	1	0	0	0	0	0	0	1	0	1175	1188	41	2	74	2	ATP6V0B	1	44441472	Splice_Site	SNP	G	TCGA-CV-7252-01A-11D-2012-08	811033	44441472	204809149	11	52871											
C1orf168	199920	broad.mit.edu	37	chr1	57209833	57209833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatgttacttacacctctttCctggagtactcgacatcatc	10	14	5	12	1	2	0	1	0	1	0	5	2	3	1	2	1	3	2	2	1	4	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:57209833C>T	ENST00000343433.6	-	10	1574	c.1494G>A	c.(1492-1494)agG>agA	p.R498R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	498										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						ACACCTCTTTCCTGGAGTACT	0.408													27	91					0	0	0	0	T	57209833	C	T	57209833	2	4	296	1	0	0	0	0	0	0	0	1	2031	854	30	2		2	C1orf168	1	57209833	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	12768361	57209833	192040788	12	52872											
DOCK7	85440	broad.mit.edu	37	chr1	62960063	62960063	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcagcatgattgcttcgTtctgagtgcttgcctgccat	5	15	10	11	1	2	2	1	2	1	0	3	2	2	2	2	0	5	5	2	0	0	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:62960063T>C	ENST00000251157.5	-	40	5106	c.5073A>G	c.(5071-5073)gaA>gaG	p.E1691E	DOCK7_ENST00000340370.5_Silent_p.E1669E	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1700	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GATTGCTTCGTTCTGAGTGCT	0.478													17	56					0	0	0	0	C	62960063	T	C	62960063	2	2	296	1	0	0	0	0	0	0	0	1	4728	1722	60	5		5	DOCK7	1	62960063	Silent	SNP	T	TCGA-CV-7252-01A-11D-2012-08	5750230	62960063	186290558	13	52873											
CTH	1491	broad.mit.edu	37	chr1	70900825	70900825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagctatttactctggccgaGagcttgggaggattcgaaag	10	11	13	7	2	1	1	0	0	1	1	2	5	1	3	1	3	3	2	1	3	4	6			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:70900825G>C	ENST00000411986.2	+	9	1119	c.921G>C	c.(919-921)gaG>gaC	p.E307D	CTH_ENST00000346806.2_Missense_Mutation_p.E295D|CTH_ENST00000370938.3_Missense_Mutation_p.E339D	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	339					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CTCTGGCCGAGAGCTTGGGAG	0.323													7	20					0	0	0	0	C	70900825	G	C	70900825	3	2	296	1	0	0	0	0	1	0	0	0	4041	933	33	2	1055	2	CTH	1	70900825	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	7940762	70900825	178349796	14	52874											
GBP5	115362	broad.mit.edu	37	chr1	89729518	89729518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttagaataaattccctgCttcactgcttcttctagagg	9	14	8	10	0	3	2	1	0	2	2	4	2	4	2	1	2	2	3	1	2	5	7			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:89729518C>A	ENST00000343435.5	-	9	1799	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.K421N|GBP5_ENST00000481145.1_5'UTR	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	421						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		AAATTCCCTGCTTCACTGCTT	0.423													54	150					1.86277e-20	7.34721e-20	1	0	A	89729518	C	A	89729518	3	1	296	1	0	0	0	0	1	0	0	0	6326	796	28	4	513	4	GBP5	1	89729518	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	18828693	89729518	159521103	15	52875											
HFM1	164045	broad.mit.edu	37	chr1	91845680	91845680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaacaattttaatattCaaccatggcaatggtacttc	14	14	5	8	0	1	0	1	0	0	0	2	0	1	0	1	2	3	3	1	2	8	7			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:91845680C>A	ENST00000370425.3	-	8	1085	c.987G>T	c.(985-987)ttG>ttT	p.L329F	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.L8F	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	329	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTTAATATTCAACCATGGCA	0.284													9	55					0.000274275	0.00097002	1	0	A	91845680	C	A	91845680	3	1	296	1	0	0	0	0	1	0	0	0	7133	825	29	2	3448	2	HFM1	1	91845680	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	2116162	91845680	157404941	16	52876											
CELSR2	1952	broad.mit.edu	37	chr1	109812163	109812163	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcagttccgcctgctggaGacagaggagcggaccaagcc	9	5	15	12	2	0	2	0	0	0	2	1	5	1	4	4	3	4	3	4	3	1	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:109812163G>A	ENST00000271332.3	+	21	6991	c.6930G>A	c.(6928-6930)gaG>gaA	p.E2310E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2310					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCTGCTGGAGACAGAGGAGC	0.607													16	73					0	0	0	0	A	109812163	G	A	109812163	2	1	296	1	0	0	0	0	0	0	0	1	3251	933	33	2		2	CELSR2	1	109812163	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	17966483	109812163	139438458	17	52877											
KIAA0907	22889	broad.mit.edu	37	chr1	155903485	155903485	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatgagcatggcattaatcTtggcagccacagcagcagca	12	7	10	12	0	1	1	0	1	1	0	1	1	1	1	2	2	5	6	2	2	1	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:155903485T>C	ENST00000368320.3	-	2	219	c.194A>G	c.(193-195)aAg>aGg	p.K65R	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.K65R|KIAA0907_ENST00000368321.3_Missense_Mutation_p.K65R			Q7Z7F0	K0907_HUMAN	KIAA0907	65										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGCATTAATCTTGGCAGCCAC	0.542													5	21					0	0	0	0	C	155903485	T	C	155903485	3	2	296	1	0	0	0	0	1	0	0	0	8250	1609	56	5	1702	5	KIAA0907	1	155903485	Missense_Mutation	SNP	T	TCGA-CV-7252-01A-11D-2012-08	46091322	155903485	93347136	18	52878											
PRCC	5546	broad.mit.edu	37	chr1	156756531	156756531	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggctcccctgatactaaGccctccagactggcttctaa	9	10	8	14	0	1	2	0	1	1	1	3	3	3	2	4	2	2	2	4	2	3	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:156756531G>A	ENST00000271526.4	+	3	920	c.648G>A	c.(646-648)aaG>aaA	p.K216K	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Silent_p.K216K	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	216					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGATACTAAGCCCTCCAGAC	0.562			T	TFE3	papillary renal								19	74					0	0	0	0	A	156756531	G	A	156756531	2	1	296	1	0	0	0	0	0	0	0	1	12527	962	34	4		4	PRCC	1	156756531	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	853046	156756531	92494090	19	52879											
LY9	4063	broad.mit.edu	37	chr1	160769734	160769734	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaaaagctacctgggcCgactagacatcaccaagtgg	12	7	11	11	1	2	1	2	0	0	1	2	2	2	1	3	3	2	1	3	3	5	2	rs12049314		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:160769734C>T	ENST00000263285.5	+	2	346	c.316C>T	c.(316-318)Cga>Tga	p.R106*	LY9_ENST00000368041.2_Nonsense_Mutation_p.R66*|LY9_ENST00000341032.4_Nonsense_Mutation_p.R106*|LY9_ENST00000368039.2_Nonsense_Mutation_p.R106*|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	106	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTACCTGGGCCGACTAGACAT	0.448													17	87					0	0	0	0	T	160769734	C	T	160769734	4	4	296	1	0	0	0	0	0	1	0	0	9166	644	23	1	322	1	LY9	1	160769734	Nonsense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	4013203	160769734	88480887	20	52880											
LAMC2	3918	broad.mit.edu	37	chr1	183177126	183177126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacaacactgatggcattCactgcgagaagtgcaagaat	15	8	10	8	1	1	4	1	2	0	2	1	5	1	4	0	1	3	2	0	1	4	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:183177126C>A	ENST00000264144.4	+	2	255	c.190C>A	c.(190-192)Cac>Aac	p.H64N	LAMC2_ENST00000493293.1_Missense_Mutation_p.H64N	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	64	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGATGGCATTCACTGCGAGAA	0.483													100	254					4.70724e-39	1.899e-38	1	0	A	183177126	C	A	183177126	3	1	296	1	0	0	0	0	1	0	0	0	8668	826	29	2	196	2	LAMC2	1	183177126	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	22407392	183177126	66073495	21	52881											
KCNT2	343450	broad.mit.edu	37	chr1	196303052	196303052	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagaagatcacatgtttgaAtcgatgatgtatctgcaacc	13	13	8	7	1	2	4	1	2	1	2	3	5	2	4	1	0	2	3	1	0	5	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:196303052A>G	ENST00000367433.5	-	17	2023	c.1922T>C	c.(1921-1923)aTt>aCt	p.I641T	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.I641T|KCNT2_ENST00000367431.4_Missense_Mutation_p.I591T|KCNT2_ENST00000451324.2_Missense_Mutation_p.I252T			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	641						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACATGTTTGAATCGATGATGT	0.403													14	42					0	0	0	0	G	196303052	A	G	196303052	3	3	296	1	0	0	0	0	1	0	0	0	8145	101	4	5	1533	5	KCNT2	1	196303052	Missense_Mutation	SNP	A	TCGA-CV-7252-01A-11D-2012-08	13125926	196303052	52947569	22	52882											
CRB1	23418	broad.mit.edu	37	chr1	197390489	197390489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctcagtttgtaacataGccctcaggtttcagactgtt	9	13	10	9	0	3	1	3	0	0	1	3	1	3	1	1	2	2	5	1	2	2	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:197390489G>A	ENST00000367400.3	+	6	1666	c.1531G>A	c.(1531-1533)Gcc>Acc	p.A511T	CRB1_ENST00000367399.2_Missense_Mutation_p.A399T|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.A210T|CRB1_ENST00000538660.1_Missense_Mutation_p.A511T|CRB1_ENST00000535699.1_Missense_Mutation_p.A442T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	511	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGTAACATAGCCCTCAGGTT	0.488													30	61					0	0	0	0	A	197390489	G	A	197390489	3	1	296	1	0	0	0	0	1	0	0	0	3878	971	34	4	1553	4	CRB1	1	197390489	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	1087437	197390489	51860132	23	52883											
PTPRC	5788	broad.mit.edu	37	chr1	198713291	198713291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacataacatgaagaaaaggGatccacccagtgagccgtct	15	7	9	10	1	1	3	0	2	1	1	2	4	2	4	3	1	3	0	3	1	5	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:198713291G>A	ENST00000367376.2	+	26	2971	c.2800G>A	c.(2800-2802)Gat>Aat	p.D934N	PTPRC_ENST00000352140.3_Missense_Mutation_p.D886N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D773N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D936N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D775N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	934					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAGAAAAGGGATCCACCCAG	0.373													6	20					0	0	0	0	A	198713291	G	A	198713291	3	1	296	1	0	0	0	0	1	0	0	0	12879	1174	41	2	2909	2	PTPRC	1	198713291	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	1322802	198713291	50537330	24	52884											
GPR25	2848	broad.mit.edu	37	chr1	200842300	200842300	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacgtctacatccccgcgctCtacctggcggccttcgccgt	4	10	9	18	6	2	0	0	0	2	0	4	0	3	0	5	2	3	1	5	2	3	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:200842300C>G	ENST00000304244.2	+	1	218	c.135C>G	c.(133-135)ctC>ctG	p.L45L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	45						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						TCCCCGCGCTCTACCTGGCGG	0.721													5	18					0	0	0	0	G	200842300	C	G	200842300	2	3	296	1	0	0	0	0	0	0	0	1	6732	900	32	2		2	GPR25	1	200842300	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	2129009	200842300	48408321	25	52885											
KIF21B	23046	broad.mit.edu	37	chr1	200954056	200954056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgcggtcattgcggggcCgagtgggaggggatgatggg	6	8	21	6	3	1	1	1	1	0	0	1	4	1	3	1	7	2	0	1	7	0	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:200954056C>T	ENST00000332129.2	-	27	4050	c.3734G>A	c.(3733-3735)cGg>cAg	p.R1245Q	KIF21B_ENST00000360529.5_Missense_Mutation_p.R1245Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.R1245Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1245Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1245					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATTGCGGGGCCGAGTGGGAGG	0.627													12	48					0	0	0	0	T	200954056	C	T	200954056	3	4	296	1	0	0	0	0	1	0	0	0	8340	652	23	1	1172	1	KIF21B	1	200954056	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	111756	200954056	48296565	26	52886											
GPR37L1	9283	broad.mit.edu	37	chr1	202097163	202097163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacctaccagaacgccCgcatgtggtggtactttggc	8	10	12	11	2	0	3	0	2	0	1	0	3	0	3	3	3	3	2	3	3	3	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:202097163C>T	ENST00000367282.4	+	2	1031	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	309						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCAGAACGCCCGCATGTGGTG	0.612													25	64					0	0	0	0	T	202097163	C	T	202097163	3	4	296	1	0	0	0	0	1	0	0	0	6741	652	23	1	931	1	GPR37L1	1	202097163	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1143107	202097163	47153458	27	52887											
SLC45A3	85414	broad.mit.edu	37	chr1	205631061	205631061	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgagaaggtgaacccggtGagggcggctgaagctgtcac	9	6	17	9	2	1	4	1	4	0	1	1	5	1	4	1	4	2	3	1	4	3	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:205631061G>A	ENST00000367145.3	-	4	1447	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	384					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TGAACCCGGTGAGGGCGGCTG	0.622			T	"ETV1, ETV5, ELK4, ERG"	prostate								11	48					0	0	0	0	A	205631061	G	A	205631061	2	1	296	1	0	0	0	0	0	0	0	1	14730	1277	45	2		2	SLC45A3	1	205631061	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	3533898	205631061	43619560	28	52888											
OBSCN	84033	broad.mit.edu	37	chr1	228468382	228468382	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccagtgacaagtatgacttCctgcacacggcgggcacgcg	9	6	12	14	4	0	2	0	2	0	0	1	2	1	2	2	2	1	3	2	2	2	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:228468382C>T	ENST00000570156.2	+	35	9443	c.9369C>T	c.(9367-9369)ttC>ttT	p.F3123F	OBSCN_ENST00000359599.6_Silent_p.F1541F|OBSCN_ENST00000284548.11_Silent_p.F2694F|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.F2694F|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2124	Ig-like 31.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGTATGACTTCCTGCACACGG	0.682													28	102					0	0	0	0	T	228468382	C	T	228468382	2	4	296	1	0	0	0	0	0	0	0	1	10883	854	30	2		2	OBSCN	1	228468382	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	22837321	228468382	20782239	29	52889											
KIAA1804	84451	broad.mit.edu	37	chr1	233489592	233489592	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaactgctcaccggagaagtCccctatcggggcattgatgg	9	8	13	11	2	1	2	1	1	0	1	3	4	2	2	3	4	2	2	3	4	3	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:233489592C>T	ENST00000366624.3	+	3	1287	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V	MLK4_ENST00000366623.3_Silent_p.V342V	NM_032435.2	NP_115811.2																					CCGGAGAAGTCCCCTATCGGG	0.517													18	57					0	0	0	0	T	233489592	C	T	233489592	2	4	296	1	0	0	0	0	0	0	0	1	8310	842	30	2		2	KIAA1804	1	233489592	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	5021210	233489592	15761029	30	52890											
OR2L2	26246	broad.mit.edu	37	chr1	248201622	248201622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttattggggctgttccCacaatcaagaattggccttt	9	14	8	10	0	2	1	1	0	1	1	3	1	3	1	2	3	0	2	2	3	4	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:248201622C>A	ENST00000366479.2	+	1	149	c.53C>A	c.(52-54)cCa>cAa	p.P18Q	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGGCTGTTCCCACAATCAAGA	0.368													43	135					1.38162e-09	5.17986e-09	1	0	A	248201622	C	A	248201622	3	1	296	1	0	0	0	0	1	0	0	0	11078	594	21	4	55	4	OR2L2	1	248201622	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	14712030	248201622	1048999	31	52891											
NOL10	79954	broad.mit.edu	37	chr2	10729194	10729194	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttctgctttgtggcagAatctttgaagcttctaaatt	9	17	8	7	0	3	2	0	1	3	1	3	2	3	2	0	1	2	4	0	1	4	6			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:10729194A>T	ENST00000345985.3	-	18	1779	c.1669T>A	c.(1669-1671)Tct>Act	p.S557T	NOL10_ENST00000381685.5_Missense_Mutation_p.S607T|NOL10_ENST00000542668.1_Missense_Mutation_p.S557T|NOL10_ENST00000538384.1_Missense_Mutation_p.S581T	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	607						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TTTGTGGCAGAATCTTTGAAG	0.478													65	80					0	0	0	0	T	10729194	A	T	10729194	3	4	296	1	0	0	0	0	1	0	0	0	10590	246	9	5	259	5	NOL10	2	10729194	Missense_Mutation	SNP	A	TCGA-CV-7252-01A-11D-2012-08		10729194	232470179	32	52892											
HADHB	3032	broad.mit.edu	37	chr2	26500001	26500001	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acactgtcaccatggcttgtAtctctgccaaccaagccatg	10	10	7	14	0	2	0	1	0	1	0	3	0	2	0	4	1	3	2	4	1	3	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:26500001A>G	ENST00000317799.5	+	7	519	c.415A>G	c.(415-417)Atc>Gtc	p.I139V	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.I139V|HADHB_ENST00000545822.1_Missense_Mutation_p.I117V|HADHB_ENST00000537713.1_Missense_Mutation_p.I124V	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	139					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGGCTTGTATCTCTGCCAA	0.403													14	19					0	0	0	0	G	26500001	A	G	26500001	3	3	296	1	0	0	0	0	1	0	0	0	6994	449	16	5	437	5	HADHB	2	26500001	Missense_Mutation	SNP	A	TCGA-CV-7252-01A-11D-2012-08	15770807	26500001	216699372	33	52893											
SRD5A2	6716	broad.mit.edu	37	chr2	31805805	31805805	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgaaggaaggcagctcctGcaggaaccaggcggcgcggg	9	2	18	12	5	0	0	0	0	0	0	1	3	1	2	2	6	3	3	2	6	3	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:31805805G>T	ENST00000405650.1	-	0	331							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GGCAGCTCCTGCAGGAACCAG	0.706													22	13					1.1804e-14	4.5213e-14	1	0	T	31805805	G	T	31805805	1	4	296	0	1	0	0	0	0	0	0	0	15229	1311	46	4		4	SRD5A2	2	31805805	RNA	SNP	G	TCGA-CV-7252-01A-11D-2012-08	5305804	31805805	211393568	34	52894											
MAP4K3	8491	broad.mit.edu	37	chr2	39494353	39494353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaacacttctggcaccatTtggtttcagggatttttgct	8	15	8	10	0	2	0	1	0	1	0	2	1	2	1	1	3	2	3	1	3	1	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:39494353T>C	ENST00000263881.3	-	27	2333	c.2009A>G	c.(2008-2010)aAa>aGa	p.K670R	MAP4K3_ENST00000341681.5_Missense_Mutation_p.K649R|MAP4K3_ENST00000437545.1_Missense_Mutation_p.K586R|MAP4K3_ENST00000536018.1_Missense_Mutation_p.K223R	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	670	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CTGGCACCATTTGGTTTCAGG	0.368													33	44					0	0	0	0	C	39494353	T	C	39494353	3	2	296	1	0	0	0	0	1	0	0	0	9330	1841	64	5	707	5	MAP4K3	2	39494353	Missense_Mutation	SNP	T	TCGA-CV-7252-01A-11D-2012-08	7688548	39494353	203705020	35	52895											
TET3	200424	broad.mit.edu	37	chr2	74328683	74328683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctgcccctgggatccagcGagaagctgtttggggctctg	5	10	15	11	1	2	1	0	0	2	1	3	3	3	2	3	3	3	3	3	3	1	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:74328683G>A	ENST00000409262.3	+	9	4363	c.4363G>A	c.(4363-4365)Gag>Aag	p.E1455K		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1455							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGATCCAGCGAGAAGCTGTT	0.652													6	15					0	0	0	0	A	74328683	G	A	74328683	3	1	296	1	0	0	0	0	1	0	0	0	15865	1059	37	1	4397	1	TET3	2	74328683	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	34834330	74328683	168870690	36	52896											
SULT1C3	442038	broad.mit.edu	37	chr2	108881304	108881304	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaagcgggaaattgagaaGatactgaagttcctggaaaa	17	7	11	6	1	0	3	0	2	0	2	1	6	1	5	2	2	2	1	2	2	7	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:108881304G>C	ENST00000329106.2	+	6	645	c.645G>C	c.(643-645)aaG>aaC	p.K215N		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	215						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAATTGAGAAGATACTGAAGT	0.398													6	29					0	0	0	0	C	108881304	G	C	108881304	3	2	296	1	0	0	0	0	1	0	0	0	15468	933	33	2	667	2	SULT1C3	2	108881304	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	34552621	108881304	134318069	37	52897											
NPHP1	4867	broad.mit.edu	37	chr2	110962526	110962526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggcctggagaggatctCgctgtcgtctcgccagcatc	6	8	14	13	3	2	1	0	0	2	1	6	3	2	2	2	3	1	3	2	3	0	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:110962526C>A	ENST00000316534.4	-	1	93	c.20G>T	c.(19-21)cGa>cTa	p.R7L	NPHP1_ENST00000417665.1_Missense_Mutation_p.R7L|NPHP1_ENST00000393272.3_Missense_Mutation_p.R7L|NPHP1_ENST00000355301.4_Missense_Mutation_p.R7L|NPHP1_ENST00000445609.2_Missense_Mutation_p.R7L|NPHP1_ENST00000418527.1_Missense_Mutation_p.R7L			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	7					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GAGAGGATCTCGCTGTCGTCT	0.662													5	48					2.7689e-08	1.03081e-07	1	0	A	110962526	C	A	110962526	3	1	296	1	0	0	0	0	1	0	0	0	10649	884	31	3	2261	3	NPHP1	2	110962526	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	2081222	110962526	132236847	38	52898											
PLA2R1	22925	broad.mit.edu	37	chr2	160832579	160832579	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagttatgttcaagtacCgcttttattttgctgtggat	7	18	11	5	1	1	1	1	1	0	0	1	2	1	2	1	2	2	5	1	2	4	7			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:160832579C>T	ENST00000283243.7	-	17	2801	c.2595_splice	c.e17+1	p.A865_splice	PLA2R1_ENST00000392771.1_Splice_Site_p.A865_splice	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	865	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTTCAAGTACCGCTTTTATTT	0.413													26	43					0	0	0	0	T	160832579	C	T	160832579	5	4	296	1	0	0	0	0	0	0	1	0	12082	666	23	1	1860	1	PLA2R1	2	160832579	Splice_Site	SNP	C	TCGA-CV-7252-01A-11D-2012-08	49870053	160832579	82366794	39	52899											
UBR3	130507	broad.mit.edu	37	chr2	170917856	170917856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tattgcttggtctcctgaatCcatggaaaaatgcttacagg	11	13	9	8	0	1	1	0	1	1	0	3	2	2	2	2	3	3	2	2	3	5	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:170917856C>T	ENST00000272793.5	+	35	4972	c.4922C>T	c.(4921-4923)tCc>tTc	p.S1641F	UBR3_ENST00000418381.1_Missense_Mutation_p.S1641F|UBR3_ENST00000392631.1_Missense_Mutation_p.S462F			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1641					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCTCCTGAATCCATGGAAAAA	0.368													45	77					0	0	0	0	T	170917856	C	T	170917856	3	4	296	1	0	0	0	0	1	0	0	0	16999	855	30	2	5060	2	UBR3	2	170917856	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	10085277	170917856	72281517	40	52900											
MYO3B	140469	broad.mit.edu	37	chr2	171243774	171243774	+	Missense_Mutation	SNP	C	C	G																															gttgtgatgggggcaagaatCtctgaatatctcctggaaaa																										TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:171243774C>G	ENST00000334231.6	+	14	1560	c.1560C>G	c.(1558-1560)atC>atG	p.I520M	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.I511M|MYO3B_ENST00000409044.3_Missense_Mutation_p.I511M			Q8WXR4	MYO3B_HUMAN	myosin IIIB	511	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGGCAAGAATCTCTGAATATC	0.428													23	64					0	0	0	0	G	171243774	C	G	171243774	3	3	296	1	0	0	0	0	1	0	0	0	10147	903	32	2	1587	2	MYO3B	2	171243774	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	325918	171243774	71955599	41	52901	418	2									
MYO3B	140469	broad.mit.edu	37	chr2	171243784	171243784	+	Missense_Mutation	SNP	C	C	G																															gggcaagaatctctgaatatCtcctggaaaaatccagagtt																										TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:171243784C>G	ENST00000334231.6	+	14	1570	c.1570C>G	c.(1570-1572)Ctc>Gtc	p.L524V	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.L515V|MYO3B_ENST00000409044.3_Missense_Mutation_p.L515V			Q8WXR4	MYO3B_HUMAN	myosin IIIB	515	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCTGAATATCTCCTGGAAAA	0.413													24	57					0	0	0	0	G	171243784	C	G	171243784	3	3	296	1	0	0	0	0	1	0	0	0	10147	913	32	2	1597	2	MYO3B	2	171243784	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	10	171243784	71955589	42	52902	418	2									
CASP8	841	broad.mit.edu	37	chr2	202149546	202149551	+	In_Frame_Del	DEL	GACCAC	GACCAC	-																															tttcacttttcaggggctttGaccacgacctttgaagagct																								rs139337151		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:202149546_202149551delGACCAC	ENST00000358485.4	+	8	1183_1188	c.987_992delGACCAC	c.(985-993)ttg>tt	p.LTT329del	CASP8_ENST00000264274.9_In_Frame_Del_p.LTT186del|CASP8_ENST00000264275.5_In_Frame_Del_p.LTT287del|CASP8_ENST00000432109.2_In_Frame_Del_p.LTT270del|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_In_Frame_Del_p.LTT255del	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	270					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAGGGGCTTTGACCACGACCTTTGAA	0.422										HNSCC(4;0.00038)			16	34	---	---	---	---					-	202149551	GACCAC	-	202149546	7	5	296	1	0	1	0	1	0	0	0	0	2702	1281	45	0	1117	0	CASP8	2	202149546	In_Frame_Del	DEL	GACCAC	TCGA-CV-7252-01A-11D-2012-08	30905762	202149546	41049827	43	52903											
MAP2	4133	broad.mit.edu	37	chr2	210543343	210543343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtcactgctgaggctgtaGcagtcctgaaaggtgaacaa	12	9	12	8	0	1	3	1	3	0	0	2	3	2	3	1	2	3	4	1	2	5	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:210543343G>T	ENST00000360351.4	+	5	816	c.310G>T	c.(310-312)Gca>Tca	p.A104S	MAP2_ENST00000199940.6_Missense_Mutation_p.A104S|MAP2_ENST00000392194.1_Missense_Mutation_p.A104S|MAP2_ENST00000447185.1_Missense_Mutation_p.A104S|MAP2_ENST00000361559.4_Missense_Mutation_p.A104S	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	104					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGAGGCTGTAGCAGTCCTGAA	0.413													30	44					3.1745e-13	1.21156e-12	1	0	T	210543343	G	T	210543343	3	4	296	1	0	0	0	0	1	0	0	0	9304	971	34	4	316	4	MAP2	2	210543343	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	8393797	210543343	32656030	44	52904											
DGKD	8527	broad.mit.edu	37	chr2	234354353	234354353	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgcgatgacgacaccCagctcccccagatcttggag	9	6	10	16	2	1	2	0	1	1	1	2	5	2	3	4	1	3	1	4	1	0	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:234354353C>T	ENST00000264057.2	+	11	1291	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.Q383*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	427	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGACGACACCCAGCTCCCCCA	0.607													28	40					0	0	0	0	T	234354353	C	T	234354353	4	4	296	1	0	0	0	0	0	1	0	0	4504	595	21	4	1345	4	DGKD	2	234354353	Nonsense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	23811010	234354353	8845020	45	52905											
HDAC4	9759	broad.mit.edu	37	chr2	240036972	240036972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcctccgggtggctctccGgctgccgggctggctcgctt	0	11	14	16	4	2	0	0	0	2	0	6	0	3	0	4	5	1	5	4	5	0	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:240036972G>A	ENST00000345617.3	-	13	2344	c.1553C>T	c.(1552-1554)cCg>cTg	p.P518L	HDAC4_ENST00000543185.1_Missense_Mutation_p.P102L|HDAC4_ENST00000541256.1_Missense_Mutation_p.P492L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	518					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GTGGCTCTCCGGCTGCCGGGC	0.652													31	53					0	0	0	0	A	240036972	G	A	240036972	3	1	296	1	0	0	0	0	1	0	0	0	7059	1116	39	1	1761	1	HDAC4	2	240036972	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	5682619	240036972	3162401	46	52906											
TGFBR2	7048	broad.mit.edu	37	chr3	30713559	30713559	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagagaaggacatcttctCagacatcaatctgaagcatg	15	8	9	9	0	4	3	2	1	3	2	5	6	4	4	0	1	1	1	0	1	3	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:30713559C>G	ENST00000295754.5	+	4	1266	c.884C>G	c.(883-885)tCa>tGa	p.S295*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S320*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	295	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.S295*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACATCTTCTCAGACATCAAT	0.493													24	55					0	0	0	0	G	30713559	C	G	30713559	4	3	296	1	0	0	0	0	0	1	0	0	15916	838	29	2	977	2	TGFBR2	3	30713559	Nonsense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08		30713559	167308871	47	52907											
PPM1M	132160	broad.mit.edu	37	chr3	52283691	52283691	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatggtcttcacaggttctCaaagctggcccagatgctga	9	10	12	10	0	3	2	2	1	2	1	4	3	3	3	1	4	2	3	1	4	1	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:52283691C>G	ENST00000323588.4	+	10	1123	c.758C>G	c.(757-759)tCa>tGa	p.S253*	PPM1M_ENST00000409502.3_Nonsense_Mutation_p.S202*|PPM1M_ENST00000457351.2_Nonsense_Mutation_p.S414*|PPM1M_ENST00000296487.4_3'UTR			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	0					protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		CACAGGTTCTCAAAGCTGGCC	0.537													7	22					0	0	0	0	G	52283691	C	G	52283691	4	3	296	1	0	0	0	0	0	1	0	0	12421	838	29	2	788	2	PPM1M	3	52283691	Nonsense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	21570132	52283691	145738739	48	52908											
EPHA3	2042	broad.mit.edu	37	chr3	89448639	89448639	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagtccagactgtatgtatTatttcaatgcagtctagagg	11	14	9	7	0	2	2	1	0	1	2	3	2	3	2	1	1	1	3	1	1	6	6			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:89448639T>G	ENST00000452448.2	+	7	1690	c.1603T>G	c.(1603-1605)Tat>Gat	p.Y535D	EPHA3_ENST00000336596.2_Intron|EPHA3_ENST00000494014.1_Intron	NM_182644.2	NP_872585.1	P29320	EPHA3_HUMAN	EPH receptor A3	0						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTGTATGTATTATTTCAATGC	0.408										TSP Lung(6;0.00050)			9	21					0	0	0	0	G	89448639	T	G	89448639	3	3	296	1	0	0	0	0	1	0	0	0	5206	1754	61	5	1629	5	EPHA3	3	89448639	Missense_Mutation	SNP	T	TCGA-CV-7252-01A-11D-2012-08	37164948	89448639	108573791	49	52909											
IGSF10	285313	broad.mit.edu	37	chr3	151154847	151154847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttacagatatagtttcctCtgtcataagctgttgcttct	8	17	6	10	0	3	1	1	0	2	1	4	1	4	1	2	0	3	4	2	0	4	7			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:151154847C>G	ENST00000282466.3	-	6	7501	c.7502G>C	c.(7501-7503)aGa>aCa	p.R2501T	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2501	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAGTTTCCTCTGTCATAAGC	0.393													40	142					0	0	0	0	G	151154847	C	G	151154847	3	3	296	1	0	0	0	0	1	0	0	0	7650	913	32	2	373	2	IGSF10	3	151154847	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	61706208	151154847	46867583	50	52910											
SMC4	10051	broad.mit.edu	37	chr3	160135570	160135570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagcacgttcaaagatGgatgtagcccagtcagaact	15	8	10	8	1	2	3	2	1	0	2	2	4	2	4	1	1	3	3	1	1	5	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:160135570G>A	ENST00000357388.3	+	11	1948	c.1497G>A	c.(1495-1497)atG>atA	p.M499I	SMC4_ENST00000469762.1_Missense_Mutation_p.M474I|SMC4_ENST00000360111.2_Missense_Mutation_p.M499I|SMC4_ENST00000344722.5_Missense_Mutation_p.M499I|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.M499I	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	499					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTTCAAAGATGGATGTAGCCC	0.378													19	79					0	0	0	0	A	160135570	G	A	160135570	3	1	296	1	0	0	0	0	1	0	0	0	14873	1348	47	4	1535	4	SMC4	3	160135570	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	8980723	160135570	37886860	51	52911											
TLR6	10333	broad.mit.edu	37	chr4	38828928	38828928	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attagatccttcatgaaagaGattgtgatgggcaaaataga	16	11	10	4	0	1	5	1	2	0	3	2	6	2	5	1	1	0	1	1	1	5	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:38828928G>C	ENST00000436693.2	-	2	2286	c.2167C>G	c.(2167-2169)Ctc>Gtc	p.L723V	TLR6_ENST00000381950.1_Missense_Mutation_p.L723V	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	723	TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATGAAAGAGATTGTGATGG	0.423													54	132					0	0	0	0	C	38828928	G	C	38828928	3	2	296	1	0	0	0	0	1	0	0	0	16049	942	33	2	227	2	TLR6	4	38828928	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08		38828928	152325348	52	52912											
GABRA4	2557	broad.mit.edu	37	chr4	46930480	46930480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgatccaaacacgtgaCgagtagaagcagatccaact	14	8	9	10	2	1	4	0	2	1	2	3	5	3	4	2	0	3	2	2	0	4	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:46930480C>T	ENST00000264318.3	-	9	2409	c.1427G>A	c.(1426-1428)cGt>cAt	p.R476H		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	476					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAACACGTGACGAGTAGAAGC	0.483													25	84					0	0	0	0	T	46930480	C	T	46930480	3	4	296	1	0	0	0	0	1	0	0	0	6211	536	19	1	241	1	GABRA4	4	46930480	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	8101552	46930480	144223796	53	52913											
CEP135	9662	broad.mit.edu	37	chr4	56820513	56820513	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaaagaattcaacaacttCaagaaaagaatttgcatgct	19	10	6	6	0	2	4	2	1	0	3	2	4	2	4	0	0	4	2	0	0	8	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:56820513C>G	ENST00000257287.4	+	4	560	c.436C>G	c.(436-438)Caa>Gaa	p.Q146E	CEP135_ENST00000422247.2_Missense_Mutation_p.Q146E	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	146					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCAACAACTTCAAGAAAAGAA	0.323													21	48					0	0	0	0	G	56820513	C	G	56820513	3	3	296	1	0	0	0	0	1	0	0	0	3276	827	29	2	446	2	CEP135	4	56820513	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	9890033	56820513	134333763	54	52914											
LRIT3	345193	broad.mit.edu	37	chr4	110790844	110790844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagtcagatggtccataatGagcttgacaggcatttcttc	10	12	11	8	0	2	3	1	2	1	1	4	4	3	4	1	3	1	2	1	3	1	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:110790844G>A	ENST00000327908.3	+	4	1154	c.390G>A	c.(388-390)atG>atA	p.M130I	LRIT3_ENST00000379920.3_Missense_Mutation_p.M268I|LRIT3_ENST00000594814.1_Missense_Mutation_p.M313I|LRIT3_ENST00000409621.2_Missense_Mutation_p.M130I			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	268			S -> N (in dbSNP:rs4698797).			integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GGTCCATAATGAGCTTGACAG	0.423													23	116					0	0	0	0	A	110790844	G	A	110790844	3	1	296	1	0	0	0	0	1	0	0	0	9013	1290	45	2	814	2	LRIT3	4	110790844	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	53970331	110790844	80363432	55	52915											
FAT1	2195	broad.mit.edu	37	chr4	187534466	187534467	+	Frame_Shift_Ins	INS	-	-	G																															ataaacagcttgctcctcacINSgatcaaggggggttgacgtt																										TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:187534466_187534467insG	ENST00000441802.2	-	13	9468_9469	c.9259_9260insC	c.(9259-9261)tgafs	p.*3087fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3087	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCTCCTCACGATCAAGGGGG	0.446										HNSCC(5;0.00058)			20	73	---	---	---	---					G	187534467	-	G	187534466	7	5	296	1	0	1	1	0	0	0	0	0	5734	536	19	0	4566	0	FAT1	4	187534466	Frame_Shift_Ins	INS	-	TCGA-CV-7252-01A-11D-2012-08	76743622	187534466	3619810	56	52916											
FAT1	2195	broad.mit.edu	37	chr4	187539457	187539469	+	Frame_Shift_Del	DEL	CTTCAGTCTCCCG	CTTCAGTCTCCCG	-																															tgatcaagactcttctccaaCttcagtctcccgctctgtct																										TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:187539457_187539469delCTTCAGTCTCCCG	ENST00000441802.2	-	10	8480_8492	c.8271_8283delCGGGAGACTGAAG	c.(8269-8283)agfs	p.SGRLK2757fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2757	Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.G2758W(1)|p.G2761R(1)|p.G2761W(1)|p.G2758R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTTCTCCAACTTCAGTCTCCCGCTCTGTCTGT	0.465										HNSCC(5;0.00058)			49	166	---	---	---	---					-	187539469	CTTCAGTCTCCCG	-	187539457	7	5	296	1	0	1	0	1	0	0	0	0	5734	564	20	0	5555	0	FAT1	4	187539457	Frame_Shift_Del	DEL	CTTCAGTCTCCCG	TCGA-CV-7252-01A-11D-2012-08	4991	187539457	3614819	57	52917											
TRIML1	339976	broad.mit.edu	37	chr4	189068147	189068147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccagtgggagacactactGggaggtggaggtgggaaaca	12	5	17	7	0	0	1	0	0	0	1	0	5	0	4	1	6	2	0	1	6	2	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:189068147G>T	ENST00000332517.3	+	6	1168	c.1028G>T	c.(1027-1029)tGg>tTg	p.W343L	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	343	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGACACTACTGGGAGGTGGAG	0.567													14	85					0.000151284	0.000538634	1	0	T	189068147	G	T	189068147	3	4	296	1	0	0	0	0	1	0	0	0	16645	1357	47	4	1050	4	TRIML1	4	189068147	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	1528690	189068147	2086129	58	52918											
PDZD2	23037	broad.mit.edu	37	chr5	32088220	32088220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catccatgtatggcgatgctGaggattcttcttctgaccct	7	14	9	11	1	3	2	0	2	3	0	4	4	4	3	2	2	1	2	2	2	1	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:32088220G>A	ENST00000438447.1	+	20	5054	c.4666G>A	c.(4666-4668)Gag>Aag	p.E1556K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E1556K			O15018	PDZD2_HUMAN	PDZ domain containing 2	1556					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGGCGATGCTGAGGATTCTTC	0.542													28	64					0	0	0	0	A	32088220	G	A	32088220	3	1	296	1	0	0	0	0	1	0	0	0	11772	1291	45	2	4740	2	PDZD2	5	32088220	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08		32088220	148827040	59	52919											
OSMR	9180	broad.mit.edu	37	chr5	38933124	38933124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaagcctaactacctttatCtccttccaacagaaaagaat	15	11	3	12	0	1	2	0	0	1	2	3	2	2	2	4	0	4	0	4	0	8	6			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:38933124C>T	ENST00000274276.3	+	18	2920	c.2518C>T	c.(2518-2520)Ctc>Ttc	p.L840F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	840					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)					CTACCTTTATCTCCTTCCAAC	0.468													37	137					0	0	0	0	T	38933124	C	T	38933124	3	4	296	1	0	0	0	0	1	0	0	0	11363	913	32	2	2622	2	OSMR	5	38933124	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	6844904	38933124	141982136	60	52920											
PDE8B	8622	broad.mit.edu	37	chr5	76645309	76645309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctcctgggaaaagaactCgctgatctgcccaaaagcga	13	6	11	11	2	1	2	0	1	1	1	3	5	2	3	2	1	4	2	2	1	5	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:76645309C>T	ENST00000264917.5	+	8	987	c.942C>T	c.(940-942)ctC>ctT	p.L314L	PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000342343.4_Silent_p.L294L|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000333194.4_Silent_p.L314L	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	314	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GAAAAGAACTCGCTGATCTGC	0.502													22	68					0	0	0	0	T	76645309	C	T	76645309	2	4	296	1	0	0	0	0	0	0	0	1	11725	871	31	1		1	PDE8B	5	76645309	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	37712185	76645309	104269951	61	52921											
TTC37	9652	broad.mit.edu	37	chr5	94830705	94830705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagaatatgagccacatttCctgctacaacacctccctag	12	9	5	15	0	0	2	0	1	0	1	2	2	2	2	5	0	4	1	5	0	5	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:94830705C>T	ENST00000358746.2	-	35	3951	c.3653G>A	c.(3652-3654)gGa>gAa	p.G1218E		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1218							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGCCACATTTCCTGCTACAAC	0.303													14	77					0	0	0	0	T	94830705	C	T	94830705	3	4	296	1	0	0	0	0	1	0	0	0	16801	855	30	2	1077	2	TTC37	5	94830705	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	18185396	94830705	86084555	62	52922											
IRF1	3659	broad.mit.edu	37	chr5	131819732	131819732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatccatgttcttcagatCtgtgaagacacgctgtagac	10	11	10	10	1	3	4	1	1	2	3	4	4	4	4	1	1	0	4	1	1	2	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131819732C>T	ENST00000245414.4	-	10	1147	c.889G>A	c.(889-891)Gat>Aat	p.D297N	IRF1_ENST00000405885.2_Missense_Mutation_p.D297N	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	297					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TTCTTCAGATCTGTGAAGACA	0.582													18	77					0	0	0	0	T	131819732	C	T	131819732	3	4	296	1	0	0	0	0	1	0	0	0	7880	913	32	2	92	2	IRF1	5	131819732	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	36989027	131819732	49095528	63	52923			1	80		4	3	422	N	C	5.845258e-06
IRF1	3659	broad.mit.edu	37	chr5	131820066	131820066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcttaccccctgggctgtCaatttctggctcctccttac	4	15	6	16	0	3	0	1	0	2	0	5	0	5	0	4	2	2	2	4	2	3	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131820066C>G	ENST00000245414.4	-	9	1099	c.841G>C	c.(841-843)Gac>Cac	p.D281H	IRF1_ENST00000405885.2_Missense_Mutation_p.D281H	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	281					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCTGGGCTGTCAATTTCTGGC	0.552													19	99					0	0	0	0	G	131820066	C	G	131820066	3	3	296	1	0	0	0	0	1	0	0	0	7880	826	29	2	144	2	IRF1	5	131820066	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	334	131820066	49095194	64	52924			1	80		4	3	422	N	C	5.845258e-06
IRF1	3659	broad.mit.edu	37	chr5	131820143	131820143	+	Missense_Mutation	SNP	C	C	T																															caggttcattgagtaggtacCccttcccatccacgtttgtt																										TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131820143C>T	ENST00000245414.4	-	9	1022	c.764G>A	c.(763-765)gGg>gAg	p.G255E	IRF1_ENST00000405885.2_Missense_Mutation_p.G255E	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	255					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GAGTAGGTACCCCTTCCCATC	0.552													22	141					0	0	0	0	T	131820143	C	T	131820143	3	4	296	1	0	0	0	0	1	0	0	0	7880	623	22	4	221	4	IRF1	5	131820143	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	77	131820143	49095117	65	52925	419	2	1	80		4	3	422	N	C	5.845258e-06
IRF1	3659	broad.mit.edu	37	chr5	131820153	131820153	+	Missense_Mutation	SNP	C	C	T																															gagtaggtaccccttcccatCcacgtttgttggctgccact																										TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131820153C>T	ENST00000245414.4	-	9	1012	c.754G>A	c.(754-756)Gat>Aat	p.D252N	IRF1_ENST00000405885.2_Missense_Mutation_p.D252N	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	252					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCCTTCCCATCCACGTTTGTT	0.567													23	146					0	0	0	0	T	131820153	C	T	131820153	3	4	296	1	0	0	0	0	1	0	0	0	7880	855	30	2	231	2	IRF1	5	131820153	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	10	131820153	49095107	66	52926	419	2	1	80		4	3	422	N	C	5.845258e-06
PCDH12	51294	broad.mit.edu	37	chr5	141335106	141335106	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtggatgtctgccttctGaatgtgtttctggggcctct	4	15	14	8	0	4	1	0	1	4	0	4	3	4	2	2	4	1	1	2	4	1	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:141335106G>A	ENST00000231484.3	-	1	3521	c.2311C>T	c.(2311-2313)Cag>Tag	p.Q771*		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	771					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCCTTCTGAATGTGTTTC	0.587													11	62					0	0	0	0	A	141335106	G	A	141335106	4	1	296	1	0	0	0	0	0	1	0	0	11581	1299	45	2	1259	2	PCDH12	5	141335106	Nonsense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	9514953	141335106	39580154	67	52927											
KCNMB1	3779	broad.mit.edu	37	chr5	169805750	169805750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaggtactggttgctcttCaccatggcgataatgaggag	10	10	13	8	1	2	1	1	1	1	0	2	4	2	2	1	4	2	3	1	4	2	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:169805750C>T	ENST00000274629.4	-	4	976	c.534G>A	c.(532-534)gtG>gtA	p.V178V	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	178					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GGTTGCTCTTCACCATGGCGA	0.627													21	82					0	0	0	0	T	169805750	C	T	169805750	2	4	296	1	0	0	0	0	0	0	0	1	8127	813	29	2		2	KCNMB1	5	169805750	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	28470644	169805750	11109510	68	52928											
UNC5A	90249	broad.mit.edu	37	chr5	176306459	176306459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggcggggtgccgactggcGgactctggcccagaaactcc	7	6	15	13	3	1	1	0	0	1	1	2	3	2	2	3	6	2	0	3	6	2	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:176306459G>A	ENST00000329542.4	+	14	2607	c.2333G>A	c.(2332-2334)cGg>cAg	p.R778Q	UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	778	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGACTGGCGGACTCTGGCC	0.677													28	118					0	0	0	0	A	176306459	G	A	176306459	3	1	296	1	0	0	0	0	1	0	0	0	17087	1116	39	1	2387	1	UNC5A	5	176306459	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	6500709	176306459	4608801	69	52929											
MXD3	83463	broad.mit.edu	37	chr5	176734658	176734658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaagccccgcagcagctcGgcctcacccccaaacaccag	11	2	8	20	3	1	0	1	0	0	0	2	1	1	0	6	1	4	3	6	1	2	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:176734658G>A	ENST00000423571.2	-	5	693	c.629C>T	c.(628-630)cCg>cTg	p.P210L	MXD3_ENST00000427908.2_Intron|MXD3_ENST00000439742.2_Silent_p.A184A|MXD3_ENST00000513063.1_Silent_p.A184A			Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCAGCTCGGCCTCACCCC	0.701													18	59					0	0	0	0	A	176734658	G	A	176734658	3	1	296	1	0	0	0	0	1	0	0	0	10070	1103	39	1	153	1	MXD3	5	176734658	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	428199	176734658	4180602	70	52930											
BTN2A2	10385	broad.mit.edu	37	chr6	26388333	26388333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtggtacccagagcccCtcacagtgtggagggacccc	8	5	15	13	0	1	1	1	0	0	1	1	4	1	3	5	4	2	1	5	4	1	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:26388333C>T	ENST00000356709.4	+	4	646	c.535C>T	c.(535-537)Ctc>Ttc	p.L179F	BTN2A2_ENST00000352867.2_Missense_Mutation_p.L63F|BTN2A2_ENST00000469230.1_Missense_Mutation_p.L179F|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.L179F|BTN2A2_ENST00000432533.2_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	179	Ig-like C2-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CCCAGAGCCCCTCACAGTGTG	0.582													16	60					0	0	0	0	T	26388333	C	T	26388333	3	4	296	1	0	0	0	0	1	0	0	0	1570	681	24	4	545	4	BTN2A2	6	26388333	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08		26388333	144726734	71	52931											
ZNF391	346157	broad.mit.edu	37	chr6	27368900	27368900	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagagaatccctatgaaTgcagtaaatgtggaaaagct	15	9	11	6	0	0	2	0	1	0	1	1	5	1	4	1	2	2	3	1	2	7	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:27368900T>C	ENST00000244576.4	+	3	1296	c.751T>C	c.(751-753)Tgc>Cgc	p.C251R		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TCCCTATGAATGCAGTAAATG	0.438													4	30					0	0	0	0	C	27368900	T	C	27368900	3	2	296	1	0	0	0	0	1	0	0	0	17974	1464	51	5	753	5	ZNF391	6	27368900	Missense_Mutation	SNP	T	TCGA-CV-7252-01A-11D-2012-08	980567	27368900	143746167	72	52932											
SCAND3	114821	broad.mit.edu	37	chr6	28540086	28540086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcgtggatcttcttttgatgGaaaataaaattcaaaacatt	15	14	7	5	1	3	1	1	1	2	0	3	3	3	3	0	2	1	0	0	2	6	6			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:28540086G>A	ENST00000452236.2	-	4	4197	c.3580C>T	c.(3580-3582)Cca>Tca	p.P1194S		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1194					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcttttgatggaaaataaaat	0.289													4	20					0	0	0	0	A	28540086	G	A	28540086	3	1	296	1	0	0	0	0	1	0	0	0	13962	1174	41	2	401	2	SCAND3	6	28540086	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	1171186	28540086	142574981	73	52933											
RXRB	6257	broad.mit.edu	37	chr6	33164363	33164363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatccttgtcctttccccGctgacgctcctcctgtaccg	3	12	6	20	3	0	1	0	1	0	0	5	1	5	1	8	0	1	3	8	0	1	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:33164363G>A	ENST00000374680.3	-	5	1052	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	RXRB_ENST00000413614.2_Missense_Mutation_p.R185W|RXRB_ENST00000374685.4_Missense_Mutation_p.R281W|RXRB_ENST00000544186.1_Missense_Mutation_p.R91W	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	281	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCCTTTCCCCGCTGACGCTCC	0.602													11	67					0	0	0	0	A	33164363	G	A	33164363	3	1	296	1	0	0	0	0	1	0	0	0	13849	1086	38	1	784	1	RXRB	6	33164363	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	4624277	33164363	137950704	74	52934											
PACSIN1	29993	broad.mit.edu	37	chr6	34496436	34496436	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccacagtatggcagcCtggagcgggcctggggtgcc	6	5	17	13	1	0	0	0	0	0	0	0	1	0	1	4	6	3	2	4	6	1	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:34496436C>T	ENST00000538621.1	+	4	483	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000244458.2_Silent_p.L80L|PACSIN1_ENST00000374043.2_Silent_p.L38L	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	80					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GTATGGCAGCCTGGAGCGGGC	0.582													37	131					0	0	0	0	T	34496436	C	T	34496436	2	4	296	1	0	0	0	0	0	0	0	1	11445	680	24	4		4	PACSIN1	6	34496436	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1332073	34496436	136618631	75	52935											
SPDEF	25803	broad.mit.edu	37	chr6	34507170	34507170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagctctcctcactggtcGaggctgggtggccagggagg	5	8	16	12	1	2	0	1	0	1	0	5	2	3	1	3	6	1	2	3	6	0	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:34507170G>A	ENST00000374037.3	-	5	1100	c.686C>T	c.(685-687)tCg>tTg	p.S229L	SPDEF_ENST00000544425.1_Missense_Mutation_p.S213L	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	229					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S229L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CTCACTGGTCGAGGCTGGGTG	0.667													22	109					0	0	0	0	A	34507170	G	A	34507170	3	1	296	1	0	0	0	0	1	0	0	0	15116	1059	37	1	329	1	SPDEF	6	34507170	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	10734	34507170	136607897	76	52936											
ENPP4	22875	broad.mit.edu	37	chr6	46108043	46108043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaagtgatcatgggatgacCcagtgttctcaggacagact	12	9	11	9	0	2	3	2	2	1	1	3	5	2	5	1	2	0	1	1	2	1	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:46108043C>T	ENST00000321037.4	+	2	953	c.723C>T	c.(721-723)acC>acT	p.T241T		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	241						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						ATGGGATGACCCAGTGTTCTC	0.393													18	62					0	0	0	0	T	46108043	C	T	46108043	2	4	296	1	0	0	0	0	0	0	0	1	5170	610	22	4		4	ENPP4	6	46108043	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	11600873	46108043	125007024	77	52937											
PKHD1	5314	broad.mit.edu	37	chr6	51921548	51921548	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccaaaggggttccagtttGcattttactgcaagtaactc	11	12	9	9	0	0	0	0	0	0	0	2	1	1	0	2	2	4	5	2	2	4	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:51921548G>A	ENST00000371117.3	-	18	1916	c.1641C>T	c.(1639-1641)tgC>tgT	p.C547C	PKHD1_ENST00000340994.4_Silent_p.C547C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	547					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTCCAGTTTGCATTTTACTG	0.413													24	82					0	0	0	0	A	51921548	G	A	51921548	2	1	296	1	0	0	0	0	0	0	0	1	12043	1311	46	4		4	PKHD1	6	51921548	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	5813505	51921548	119193519	78	52938											
EFHC1	114327	broad.mit.edu	37	chr6	52317592	52317592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtaagtatgtcaccccatCagactttgatcaactcaagc	12	11	6	12	1	4	2	4	1	0	1	5	2	4	2	2	0	2	2	2	0	4	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:52317592C>T	ENST00000371068.5	+	4	783	c.680C>T	c.(679-681)tCa>tTa	p.S227L	EFHC1_ENST00000433625.2_Missense_Mutation_p.S136L|EFHC1_ENST00000538167.1_Missense_Mutation_p.S208L	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	227						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GTCACCCCATCAGACTTTGAT	0.398													22	88					0	0	0	0	T	52317592	C	T	52317592	3	4	296	1	0	0	0	0	1	0	0	0	4982	838	29	2	704	2	EFHC1	6	52317592	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	396044	52317592	118797475	79	52939											
BACH2	60468	broad.mit.edu	37	chr6	90660231	90660231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggtgagcccccgctccCgtcctccgcgtaggaatagg	6	6	14	15	4	0	1	0	1	0	0	3	2	3	2	5	3	1	3	5	3	3	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:90660231C>G	ENST00000257749.4	-	7	2301	c.1594G>C	c.(1594-1596)Ggg>Cgg	p.G532R	BACH2_ENST00000343122.3_Missense_Mutation_p.G532R|BACH2_ENST00000537989.1_Missense_Mutation_p.G532R|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	532						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCCCGCTCCCGTCCTCCGCG	0.622													17	51					0	0	0	0	G	90660231	C	G	90660231	3	3	296	1	0	0	0	0	1	0	0	0	1288	652	23	3	943	3	BACH2	6	90660231	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	38342639	90660231	80454836	80	52940											
REV3L	5980	broad.mit.edu	37	chr6	111693797	111693797	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagggaaaaaataactgattAcctgggcttttctggtacat	14	12	9	6	0	1	1	0	1	1	0	1	2	1	2	1	3	3	2	1	3	7	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:111693797A>G	ENST00000435970.1	-	15	6342		c.e15+1		REV3L_ENST00000368802.3_Splice_Site|REV3L_ENST00000358835.3_Splice_Site|REV3L_ENST00000368805.1_Splice_Site			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATAACTGATTACCTGGGCTTT	0.348								DNA polymerases (catalytic subunits)					18	67					0	0	0	0	G	111693797	A	G	111693797	5	3	296	1	0	0	0	0	0	0	1	0	13322	405	14	5	3711	5	REV3L	6	111693797	Splice_Site	SNP	A	TCGA-CV-7252-01A-11D-2012-08	21033566	111693797	59421270	81	52941											
LAMA4	3910	broad.mit.edu	37	chr6	112506519	112506519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgtatctttcttagggCgtattggttttctctttctg	4	22	9	6	1	4	0	0	0	4	0	5	1	4	0	0	2	0	3	0	2	3	9			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:112506519C>T	ENST00000230538.7	-	9	1394	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	LAMA4_ENST00000389463.4_Missense_Mutation_p.A326T|LAMA4_ENST00000424408.2_Missense_Mutation_p.A326T|LAMA4_ENST00000522006.1_Missense_Mutation_p.A326T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	333	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTCTTAGGGCGTATTGGTTT	0.358													26	111					0	0	0	0	T	112506519	C	T	112506519	3	4	296	1	0	0	0	0	1	0	0	0	8661	768	27	1	4598	1	LAMA4	6	112506519	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	812722	112506519	58608548	82	52942											
LAMA4	3910	broad.mit.edu	37	chr6	112508752	112508752	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgccttcctcgatggagAgcgctgctaaccgcagtgca	8	10	11	12	3	0	1	0	0	0	1	2	3	1	1	3	1	5	4	3	1	1	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:112508752A>G	ENST00000230538.7	-	8	1263	c.866T>C	c.(865-867)cTc>cCc	p.L289P	LAMA4_ENST00000389463.4_Missense_Mutation_p.L282P|LAMA4_ENST00000424408.2_Missense_Mutation_p.L282P|LAMA4_ENST00000522006.1_Missense_Mutation_p.L282P	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	289	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTCGATGGAGAGCGCTGCTAA	0.527													10	33					0	0	0	0	G	112508752	A	G	112508752	3	3	296	1	0	0	0	0	1	0	0	0	8661	304	11	5	4733	5	LAMA4	6	112508752	Missense_Mutation	SNP	A	TCGA-CV-7252-01A-11D-2012-08	2233	112508752	58606315	83	52943											
RSPH4A	345895	broad.mit.edu	37	chr6	116938138	116938138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaggaccacgagtgtgattCctgaagctgggacaccttat	11	9	11	10	1	0	2	0	2	0	0	1	5	1	4	3	2	1	1	3	2	2	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:116938138C>T	ENST00000229554.5	+	1	489	c.352C>T	c.(352-354)Cct>Tct	p.P118S	RSPH4A_ENST00000368580.4_Missense_Mutation_p.P118S|RSPH4A_ENST00000368581.4_Missense_Mutation_p.P118S	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	118					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGTGTGATTCCTGAAGCTGG	0.537									Kartagener syndrome				23	78					0	0	0	0	T	116938138	C	T	116938138	3	4	296	1	0	0	0	0	1	0	0	0	13791	855	30	2	354	2	RSPH4A	6	116938138	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	4429386	116938138	54176929	84	52944											
ROS1	6098	broad.mit.edu	37	chr6	117709162	117709162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggcagaagggcctaattCaaagagttcaataatatcac	16	8	8	9	0	3	2	3	0	0	2	3	2	3	2	2	2	0	2	2	2	6	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:117709162C>T	ENST00000368508.3	-	13	1993	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	ROS1_ENST00000368507.3_Intron|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	599	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGGCCTAATTCAAAGAGTTCA	0.438			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								31	86					0	0	0	0	T	117709162	C	T	117709162	3	4	296	1	0	0	0	0	1	0	0	0	13616	835	29	2	5372	2	ROS1	6	117709162	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	771024	117709162	53405905	85	52945											
CLVS2	134829	broad.mit.edu	37	chr6	123332247	123332247	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactggagtaacttcactttCaagcaagcctctaaactcac	13	10	6	12	0	4	0	3	0	1	0	4	2	4	1	1	1	4	2	1	1	5	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:123332247C>T	ENST00000275162.4	+	3	1842	c.507C>T	c.(505-507)ttC>ttT	p.F169F	CLVS2_ENST00000368438.1_Silent_p.F23F	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	169	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACTTCACTTTCAAGCAAGCCT	0.413													14	75					0	0	0	0	T	123332247	C	T	123332247	2	4	296	1	0	0	0	0	0	0	0	1	3602	825	29	2		2	CLVS2	6	123332247	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	5623085	123332247	47782820	86	52946											
KIF25	3834	broad.mit.edu	37	chr6	168434601	168434601	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtatggacagacgggcagCggaaagagctataccatgct	12	6	14	9	3	0	2	0	0	0	2	0	4	0	4	1	3	4	4	1	3	4	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:168434601C>T	ENST00000443060.2	+	5	598	c.207C>T	c.(205-207)agC>agT	p.S69S	KIF25_ENST00000354419.2_Silent_p.S69S|KIF25_ENST00000351261.3_Silent_p.S69S			Q9UIL4	KIF25_HUMAN	kinesin family member 25	69	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGACGGGCAGCGGAAAGAGCT	0.517													15	62					0	0	0	0	T	168434601	C	T	168434601	2	4	296	1	0	0	0	0	0	0	0	1	8344	767	27	1		1	KIF25	6	168434601	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	45102354	168434601	2680466	87	52947											
BBS9	27241	broad.mit.edu	37	chr7	33296932	33296932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttggaagatttctccCtggctttcttctgcctggtc	3	18	9	11	0	3	1	0	0	3	1	5	2	3	2	2	3	2	2	2	3	1	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:33296932C>T	ENST00000242067.6	+	6	1048	c.527C>T	c.(526-528)cCt>cTt	p.P176L	BBS9_ENST00000355070.2_Missense_Mutation_p.P176L|BBS9_ENST00000425508.2_Missense_Mutation_p.P131L|BBS9_ENST00000350941.3_Missense_Mutation_p.P176L|BBS9_ENST00000396127.2_Missense_Mutation_p.P176L|BBS9_ENST00000354265.4_Missense_Mutation_p.P176L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	176					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGATTTCTCCCTGGCTTTCTT	0.433									Bardet-Biedl syndrome				19	46					0	0	0	0	T	33296932	C	T	33296932	3	4	296	1	0	0	0	0	1	0	0	0	1346	681	24	4	545	4	BBS9	7	33296932	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08		33296932	125841731	88	52948											
EGFR	1956	broad.mit.edu	37	chr7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaatacagctttggtGccacctgcgtgaagaagtgt	11	9	13	8	1	0	2	0	1	0	1	0	2	0	2	2	2	4	2	2	2	4	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:55221821G>A	ENST00000275493.2	+	7	1042	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000454757.2_Missense_Mutation_p.A236T|EGFR_ENST00000344576.2_Missense_Mutation_p.A289T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T|EGFR_ENST00000442591.1_Missense_Mutation_p.A289T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			12	51					0	0	0	0	A	55221821	G	A	55221821	3	1	296	1	0	0	0	0	1	0	0	0	5003	1319	46	4	891	4	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	21924889	55221821	103916842	89	52949											
GUSB	2990	broad.mit.edu	37	chr7	65439597	65439597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcatcacttcctctgcatagGggtagtggctggtacggaaa	9	10	13	9	1	2	0	1	0	1	0	3	1	3	1	1	5	2	5	1	5	4	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:65439597G>A	ENST00000304895.4	-	7	1290	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	GUSB_ENST00000421103.1_Missense_Mutation_p.P241L|GUSB_ENST00000345660.6_Missense_Mutation_p.P336L	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	387					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CTCTGCATAGGGGTAGTGGCT	0.597													19	59					0	0	0	0	A	65439597	G	A	65439597	3	1	296	1	0	0	0	0	1	0	0	0	6952	1232	43	4	819	4	GUSB	7	65439597	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	10217776	65439597	93699066	90	52950											
GNAT3	346562	broad.mit.edu	37	chr7	80141221	80141221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggctgactccttgctctCtgaactaattccacttccca	7	15	5	14	0	1	2	0	2	1	0	5	2	4	2	3	1	2	2	3	1	2	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:80141221C>T	ENST00000398291.3	-	1	115	c.22G>A	c.(22-24)Gag>Aag	p.E8K	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	8					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TCCTTGCTCTCTGAACTAATT	0.418													9	18					0	0	0	0	T	80141221	C	T	80141221	3	4	296	1	0	0	0	0	1	0	0	0	6564	922	32	2	1072	2	GNAT3	7	80141221	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	14701624	80141221	78997442	91	52951											
OCM2	4951	broad.mit.edu	37	chr7	97617811	97617811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgactggctgacatcttGgagaggcctgacgtctggaa	9	9	13	10	1	2	4	0	3	2	1	2	6	2	5	2	4	0	1	2	4	1	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:97617811G>A	ENST00000257627.4	-	2	202	c.111C>T	c.(109-111)tcC>tcT	p.S37S	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	37							calcium ion binding			lung(4)	4						CTGACATCTTGGAGAGGCCTG	0.458													42	128					0	0	0	0	A	97617811	G	A	97617811	2	1	296	1	0	0	0	0	0	0	0	1	10893	1335	47	4		4	OCM2	7	97617811	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	17476590	97617811	61520852	92	52952											
PDAP1	11333	broad.mit.edu	37	chr7	99001128	99001128	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctttttgctcctcttcttCctgtttcagaaatggacaac	7	18	5	11	0	4	1	1	0	3	1	6	2	6	2	2	1	2	2	2	1	2	6			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:99001128C>T	ENST00000350498.3	-	3	386	c.105_splice	c.e3-1	p.E36_splice		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	36					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	TCCTCTTCTTCCTGTTTCAGA	0.453													18	72					0	0	0	0	T	99001128	C	T	99001128	5	4	296	1	0	0	0	0	0	0	1	0	11684	869	30	2	455	2	PDAP1	7	99001128	Splice_Site	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1383317	99001128	60137535	93	52953											
GNB2	2783	broad.mit.edu	37	chr7	100276155	100276155	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatcacctctgttgccttCtcgcgcagcggacggctgct	4	10	12	15	4	3	0	1	0	2	0	4	1	3	1	2	3	3	5	2	3	0	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:100276155C>T	ENST00000303210.4	+	9	1316	c.834C>T	c.(832-834)ttC>ttT	p.F278F	GNB2_ENST00000419828.1_Silent_p.F178F|GNB2_ENST00000424361.1_Silent_p.F234F|GNB2_ENST00000436220.1_Silent_p.F234F|GNB2_ENST00000393924.1_Silent_p.F278F|GNB2_ENST00000427895.1_Silent_p.F178F|GNB2_ENST00000393926.1_Silent_p.F278F	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	278					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CTGTTGCCTTCTCGCGCAGCG	0.622													19	48					0	0	0	0	T	100276155	C	T	100276155	2	4	296	1	0	0	0	0	0	0	0	1	6568	912	32	2		2	GNB2	7	100276155	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1275027	100276155	58862508	94	52954											
GIGYF1	64599	broad.mit.edu	37	chr7	100280033	100280033	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgggaatgccctgcagCagcttcagcagcttctcttc	6	10	11	14	0	2	0	1	0	1	0	4	1	2	1	2	2	6	5	2	2	1	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:100280033C>T	ENST00000275732.5	-	21	3882	c.2673G>A	c.(2671-2673)ctG>ctA	p.L891L		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	891										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGCCCTGCAGCAGCTTCAGCA	0.637													8	42					0	0	0	0	T	100280033	C	T	100280033	2	4	296	1	0	0	0	0	0	0	0	1	6428	697	25	4		4	GIGYF1	7	100280033	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	3878	100280033	58858630	95	52955											
CUX1	1523	broad.mit.edu	37	chr7	101559408	101559408	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaacagagagaactcgatgCcaccgcaacggtattggcga	13	5	11	12	4	0	2	0	0	0	2	1	5	0	2	3	2	4	2	3	2	4	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:101559408C>A	ENST00000360264.3	+	2	97	c.77C>A	c.(76-78)gCc>gAc	p.A26D	CUX1_ENST00000292538.4_Missense_Mutation_p.A26D|CUX1_ENST00000550008.2_Missense_Mutation_p.A15D|CUX1_ENST00000425244.2_Missense_Mutation_p.A26D|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Missense_Mutation_p.A26D|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Missense_Mutation_p.A26D|CUX1_ENST00000549414.2_Missense_Mutation_p.A15D|CUX1_ENST00000546411.2_Missense_Mutation_p.A15D|CUX1_ENST00000556210.1_Missense_Mutation_p.A15D|CUX1_ENST00000292535.7_Missense_Mutation_p.A15D	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	15					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAACTCGATGCCACCGCAACG	0.498													39	146					1.15183e-24	4.59434e-24	1	0	A	101559408	C	A	101559408	3	1	296	1	0	0	0	0	1	0	0	0	4096	739	26	4	117	4	CUX1	7	101559408	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1279375	101559408	57579255	96	52956											
CTTNBP2	83992	broad.mit.edu	37	chr7	117375087	117375087	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtcggagccctggagacaGgccttggcgatggttcccat	8	8	14	11	2	0	1	0	0	0	1	2	4	1	2	3	5	1	1	3	5	1	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:117375087G>A	ENST00000160373.3	-	16	3847	c.3756C>T	c.(3754-3756)gcC>gcT	p.A1252A		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1252										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGAGACAGGCCTTGGCGA	0.537													6	45					0	0	0	0	A	117375087	G	A	117375087	2	1	296	1	0	0	0	0	0	0	0	1	4077	987	35	4		4	CTTNBP2	7	117375087	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	15815679	117375087	41763576	97	52957											
LRRC4	64101	broad.mit.edu	37	chr7	127669962	127669962	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatgacccagagcttcttGagggagctcaggccatggaa	10	9	12	10	0	3	3	2	2	1	1	3	5	3	5	2	3	2	2	2	3	1	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:127669962G>C	ENST00000249363.3	-	2	989	c.732C>G	c.(730-732)ctC>ctG	p.L244L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	244						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AGAGCTTCTTGAGGGAGCTCA	0.572													17	40					0	0	0	0	C	127669962	G	C	127669962	2	2	296	1	0	0	0	0	0	0	0	1	9061	1277	45	2		2	LRRC4	7	127669962	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	10294875	127669962	31468701	98	52958			2	81		3	3	232	G		1.758166e-06
LRRC4	64101	broad.mit.edu	37	chr7	127670131	127670131	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccctcaaaagctccctcaGagatatactccagcttcttg	10	10	6	15	0	3	1	2	0	1	1	5	2	5	1	4	0	3	2	4	0	4	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:127670131G>C	ENST00000249363.3	-	2	820	c.563C>G	c.(562-564)tCt>tGt	p.S188C	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	188						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AGCTCCCTCAGAGATATACTC	0.557													14	57					0	0	0	0	C	127670131	G	C	127670131	3	2	296	1	0	0	0	0	1	0	0	0	9061	942	33	2	1402	2	LRRC4	7	127670131	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	169	127670131	31468532	99	52959			2	81		3	3	232	G		1.758166e-06
LRRC4	64101	broad.mit.edu	37	chr7	127670193	127670193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagggagggcacccggttGaaggcgtaagaggggatgct	10	6	19	6	2	0	3	0	2	0	1	0	5	0	5	1	6	1	4	1	6	2	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:127670193G>A	ENST00000249363.3	-	2	758	c.501C>T	c.(499-501)ttC>ttT	p.F167F	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	167						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GCACCCGGTTGAAGGCGTAAG	0.572													20	79					0	0	0	0	A	127670193	G	A	127670193	2	1	296	1	0	0	0	0	0	0	0	1	9061	1281	45	2		2	LRRC4	7	127670193	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	62	127670193	31468470	100	52960			2	81		3	3	232	G		1.758166e-06
CNTNAP2	26047	broad.mit.edu	37	chr7	148112633	148112633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggagtcggcagagagcgcGgacgccgccatcatgaacaa	11	3	15	12	6	1	2	1	1	0	1	2	5	1	4	2	3	2	1	2	3	2	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:148112633G>A	ENST00000361727.3	+	24	4437	c.3921G>A	c.(3919-3921)gcG>gcA	p.A1307A	CNTNAP2_ENST00000538075.1_Silent_p.A366A|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1307					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGAGAGCGCGGACGCCGCCA	0.552										HNSCC(39;0.1)			15	58					0	0	0	0	A	148112633	G	A	148112633	2	1	296	1	0	0	0	0	0	0	0	1	3677	1103	39	1		1	CNTNAP2	7	148112633	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	20442440	148112633	11026030	101	52961											
EZH2	2146	broad.mit.edu	37	chr7	148515125	148515125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactgttattgggaagccGtcctcttctgcggcctcctg	4	13	11	13	2	2	0	0	0	2	0	4	1	4	1	4	2	3	2	4	2	3	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:148515125G>A	ENST00000320356.2	-	10	1205	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	EZH2_ENST00000476773.1_Missense_Mutation_p.R348W|EZH2_ENST00000483967.1_Missense_Mutation_p.R348W|EZH2_ENST00000541220.1_Missense_Mutation_p.R348W|EZH2_ENST00000350995.2_Missense_Mutation_p.R318W|EZH2_ENST00000478654.1_Missense_Mutation_p.R348W|EZH2_ENST00000460911.1_Missense_Mutation_p.R357W	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	357					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTGGGAAGCCGTCCTCTTCTG	0.537			Mis		DLBCL								25	104					0	0	0	0	A	148515125	G	A	148515125	3	1	296	1	0	0	0	0	1	0	0	0	5372	1144	40	1	1215	1	EZH2	7	148515125	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	402492	148515125	10623538	102	52962											
DEFA4	1669	broad.mit.edu	37	chr8	6794389	6794389	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacctggagggctaccaaGagaatagcagcgaggagggc	12	3	17	9	2	0	1	0	0	0	1	0	6	0	4	2	5	3	2	2	5	4	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:6794389G>T	ENST00000297435.2	-	2	157	c.33C>A	c.(31-33)ctC>ctA	p.L11L		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	11					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GGGCTACCAAGAGAATAGCAG	0.602													8	37					0.000157383	0.000558474	1	0	T	6794389	G	T	6794389	2	4	296	1	0	0	0	0	0	0	0	1	4423	929	33	2		2	DEFA4	8	6794389	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08		6794389	139569633	103	52963											
SH2D4A	63898	broad.mit.edu	37	chr8	19231062	19231062	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagggagtggtgaggacActgtccagctctgcccaaga	11	7	13	10	0	2	2	1	1	1	1	3	4	3	4	2	3	2	1	2	3	2	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:19231062A>G	ENST00000265807.3	+	8	1350	c.939A>G	c.(937-939)acA>acG	p.T313T	SH2D4A_ENST00000518040.1_Silent_p.T268T|SH2D4A_ENST00000519207.1_Silent_p.T313T	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	313						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TGGTGAGGACACTGTCCAGCT	0.408													10	28					0	0	0	0	G	19231062	A	G	19231062	2	3	296	1	0	0	0	0	0	0	0	1	14322	146	6	5		5	SH2D4A	8	19231062	Silent	SNP	A	TCGA-CV-7252-01A-11D-2012-08	12436673	19231062	127132960	104	52964											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19362961	19362961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcattcacctctgccttgtCcacctgcgagtgcaggaagg	8	9	11	13	1	2	0	1	0	1	0	3	2	3	1	4	2	4	2	4	2	1	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:19362961C>A	ENST00000454498.2	-	4	1398	c.385G>T	c.(385-387)Gac>Tac	p.D129Y	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.D129Y	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	129					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TCTGCCTTGTCCACCTGCGAG	0.597													25	73					3.65163e-15	1.41401e-14	1	0	A	19362961	C	A	19362961	3	1	296	1	0	0	0	0	1	0	0	0	3970	855	30	2	1241	2	CSGALNACT1	8	19362961	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	131899	19362961	127001061	105	52965											
PTK2B	2185	broad.mit.edu	37	chr8	27289833	27289833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaggtgcctcccgctggaGgagggccaggcagtacttca	8	7	14	12	1	2	0	2	0	0	0	3	2	3	2	3	5	2	3	3	5	1	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:27289833G>A	ENST00000397501.1	+	15	1750	c.942G>A	c.(940-942)gaG>gaA	p.E314E	PTK2B_ENST00000420218.2_Silent_p.E314E|PTK2B_ENST00000544172.1_Silent_p.E314E|PTK2B_ENST00000338238.4_Silent_p.E314E|PTK2B_ENST00000346049.5_Silent_p.E314E|PTK2B_ENST00000397497.4_Silent_p.E60E|PTK2B_ENST00000517339.1_Silent_p.E314E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	314	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCCCGCTGGAGGAGGGCCAGG	0.622													7	28					0	0	0	0	A	27289833	G	A	27289833	2	1	296	1	0	0	0	0	0	0	0	1	12843	991	35	4		4	PTK2B	8	27289833	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	7926872	27289833	119074189	106	52966											
PROSC	11212	broad.mit.edu	37	chr8	37623261	37623261	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagaaaaagcatcaaatccCaaagtaagtagatagctgaa	20	7	7	7	0	1	3	1	1	0	2	2	3	2	3	1	0	2	4	1	0	9	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:37623261C>A	ENST00000328195.3	+	3	307	c.240C>A	c.(238-240)ccC>ccA	p.P80P		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	80							pyridoxal phosphate binding	p.P80P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	CATCAAATCCCAAAGTAAGTA	0.383													6	222					0.00116845	0.00410504	1	0	A	37623261	C	A	37623261	2	1	296	1	0	0	0	0	0	0	0	1	12639	581	21	4		4	PROSC	8	37623261	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	10333428	37623261	108740761	107	52967											
ADRB3	155	broad.mit.edu	37	chr8	37823854	37823854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggccagcaccgccagcGccagcagggccccggctagg	6	2	16	17	4	0	0	0	0	0	0	0	0	0	0	6	5	3	3	6	5	1	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:37823854G>A	ENST00000345060.3	-	1	629	c.134C>T	c.(133-135)gCg>gTg	p.A45V		NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	45					carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	CACCGCCAGCGCCAGCAGGGC	0.697													8	22					0	0	0	0	A	37823854	G	A	37823854	3	1	296	1	0	0	0	0	1	0	0	0	342	1087	38	1	1100	1	ADRB3	8	37823854	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	200593	37823854	108540168	108	52968											
MATN2	4147	broad.mit.edu	37	chr8	99039681	99039681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgacctggtctttgtgatCgatggatccaagagtcttgg	8	14	12	7	1	2	3	0	2	2	1	4	5	3	4	2	3	0	0	2	3	1	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:99039681C>T	ENST00000254898.5	+	14	2211	c.1980C>T	c.(1978-1980)atC>atT	p.I660I	RPL30_ENST00000518164.1_Intron|MATN2_ENST00000522025.2_Silent_p.I376I|MATN2_ENST00000521689.1_Silent_p.I660I|MATN2_ENST00000524308.1_Silent_p.I619I|MATN2_ENST00000520016.1_Silent_p.I660I	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	660	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding	p.I660I(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TCTTTGTGATCGATGGATCCA	0.403													26	85					0	0	0	0	T	99039681	C	T	99039681	2	4	296	1	0	0	0	0	0	0	0	1	9403	874	31	1		1	MATN2	8	99039681	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	61215827	99039681	47324341	109	52969											
COL14A1	7373	broad.mit.edu	37	chr8	121267542	121267542	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcttgtgtgcccactGgcaggtacatcgccatgcca	8	8	11	14	1	0	0	0	0	0	0	1	1	0	0	4	2	4	3	4	2	1	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:121267542G>A	ENST00000297848.3	+	23	3086	c.2816G>A	c.(2815-2817)tGg>tAg	p.W939*	COL14A1_ENST00000247781.3_Nonsense_Mutation_p.W844*|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.W939*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	939	Fibronectin type-III 8.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGTGCCCACTGGCAGGTACAT	0.438													36	96					0	0	0	0	A	121267542	G	A	121267542	4	1	296	1	0	0	0	0	0	1	0	0	3701	1357	47	4	2902	4	COL14A1	8	121267542	Nonsense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	22227861	121267542	25096480	110	52970											
ARC	23237	broad.mit.edu	37	chr8	143695543	143695543	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggcccggcacttcccgatCtgcaggatcacgttgggctt	5	10	12	14	4	2	0	1	0	1	0	4	2	3	1	2	4	1	4	2	4	0	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:143695543C>G	ENST00000356613.2	-	1	1290	c.90G>C	c.(88-90)caG>caC	p.Q30H		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	30					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACTTCCCGATCTGCAGGATCA	0.726													4	19					0	0	0	0	G	143695543	C	G	143695543	3	3	296	1	0	0	0	0	1	0	0	0	843	912	32	2	1104	2	ARC	8	143695543	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	22428001	143695543	2668479	111	52971											
JRK	8629	broad.mit.edu	37	chr8	143746149	143746149	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccttctgcctcccttccCgctaccccccagctggcggc	2	8	7	24	2	1	0	0	0	1	0	3	0	3	0	8	2	3	2	8	2	1	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:143746149C>T	ENST00000507178.2	-	0	1661									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				cctcccttcccgctacccccc	0.647													5	12					0	0	0	0	T	143746149	C	T	143746149	1	4	296	0	1	0	0	0	0	0	0	0	8017	639	23	1		1	JRK	8	143746149	RNA	SNP	C	TCGA-CV-7252-01A-11D-2012-08	50606	143746149	2617873	112	52972											
GPIHBP1	338328	broad.mit.edu	37	chr8	144297245	144297245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgccagtccagcctgtGcaatgtcccaccctggcaaa	8	8	9	16	0	0	0	0	0	0	0	2	0	2	0	5	1	4	3	5	1	2	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:144297245G>A	ENST00000330824.2	+	4	482	c.407G>A	c.(406-408)tGc>tAc	p.C136Y		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	136	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCAGCCTGTGCAATGTCCCA	0.672													22	65					0	0	0	0	A	144297245	G	A	144297245	3	1	296	1	0	0	0	0	1	0	0	0	6661	1319	46	4	421	4	GPIHBP1	8	144297245	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	551096	144297245	2066777	113	52973											
ARHGAP39	80728	broad.mit.edu	37	chr8	145763114	145763114	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggccctaccatccggctCttcaacataaggcttgggtt	9	10	10	12	1	2	1	1	0	1	1	3	1	3	1	3	4	2	3	3	4	3	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:145763114C>G	ENST00000377307.2	-	6	2689	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	ARHGAP39_ENST00000276826.5_Intron|ARHGAP39_ENST00000540274.1_Intron	NM_025251.1	NP_079527.1	Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	840	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CCATCCGGCTCTTCAACATAA	0.552													31	97					0	0	0	0	G	145763114	C	G	145763114	3	3	296	1	0	0	0	0	1	0	0	0	886	922	32	2	763	2	ARHGAP39	8	145763114	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1465869	145763114	600908	114	52974											
CRB2	286204	broad.mit.edu	37	chr9	126136903	126136903	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcctgaatgtcacctgcctCgatggcagcccatgtgaggg	8	8	13	12	1	1	2	1	2	0	0	2	3	1	2	4	2	3	1	4	2	1	0	rs148933240	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr9:126136903C>T	ENST00000373631.3	+	11	3436	c.3435C>T	c.(3433-3435)ctC>ctT	p.L1145L	CRB2_ENST00000373629.2_Silent_p.L813L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	1145	EGF-like 14.					extracellular region|integral to membrane|plasma membrane	calcium ion binding	p.L1145L(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCACCTGCCTCGATGGCAGCC	0.657													20	28					0	0	0	0	T	126136903	C	T	126136903	2	4	296	1	0	0	0	0	0	0	0	1	3879	871	31	1		1	CRB2	9	126136903	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08		126136903	15076528	115	52975											
LAMC3	10319	broad.mit.edu	37	chr9	133932455	133932455	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgctccgggatacaagagGgagatgccacaggggggtcc	9	6	17	9	1	0	2	0	0	0	2	2	4	2	3	3	5	3	1	3	5	2	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr9:133932455G>A	ENST00000361069.4	+	12	2212	c.2079G>A	c.(2077-2079)agG>agA	p.R693R	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	693	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GATACAAGAGGGAGATGCCAC	0.612													23	67					0	0	0	0	A	133932455	G	A	133932455	2	1	296	1	0	0	0	0	0	0	0	1	8669	1223	43	4		4	LAMC3	9	133932455	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	7795552	133932455	7280976	116	52976											
MYO3A	53904	broad.mit.edu	37	chr10	26377303	26377303	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagatttctgaatatctcCtggaaaaatcccgagttatc	13	12	6	10	1	2	2	0	1	2	1	5	4	3	3	2	1	0	1	2	1	5	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:26377303C>T	ENST00000265944.5	+	15	1697	c.1531C>T	c.(1531-1533)Ctg>Ttg	p.L511L	MYO3A_ENST00000543632.1_Silent_p.L511L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	511	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGAATATCTCCTGGAAAAATC	0.343													4	36					0	0	0	0	T	26377303	C	T	26377303	2	4	296	1	0	0	0	0	0	0	0	1	10146	680	24	4		4	MYO3A	10	26377303	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08		26377303	109157444	117	52977											
ITGB1	3688	broad.mit.edu	37	chr10	33199181	33199181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaacatgaaccatgacctCgttgttcccattcactgaat	12	11	5	13	1	1	3	1	3	0	0	3	3	2	3	3	0	2	2	3	0	3	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:33199181C>T	ENST00000396033.2	-	14	2269	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	ITGB1_ENST00000374956.4_Missense_Mutation_p.E712K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E712K|ITGB1_ENST00000302278.3_Missense_Mutation_p.E712K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	712					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACCATGACCTCGTTGTTCCCA	0.423													4	30					0	0	0	0	T	33199181	C	T	33199181	3	4	296	1	0	0	0	0	1	0	0	0	7943	893	31	1	512	1	ITGB1	10	33199181	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	6821878	33199181	102335566	118	52978											
ITGB1	3688	broad.mit.edu	37	chr10	33200509	33200509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctgtccgttgctggcttCacaagtactagtatccaaag	10	12	9	10	1	2	0	1	0	1	0	4	1	4	0	2	1	2	5	2	1	5	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:33200509C>T	ENST00000396033.2	-	13	1933	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	ITGB1_ENST00000374956.4_Missense_Mutation_p.E600K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E600K|ITGB1_ENST00000302278.3_Missense_Mutation_p.E600K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	600	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTGCTGGCTTCACAAGTACTA	0.493													27	138					0	0	0	0	T	33200509	C	T	33200509	3	4	296	1	0	0	0	0	1	0	0	0	7943	835	29	2	852	2	ITGB1	10	33200509	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1328	33200509	102334238	119	52979											
AGAP7	653268	broad.mit.edu	37	chr10	51465428	51465428	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagcccggtgtccatgTccttggataggccatcgctt	6	10	10	15	2	0	0	0	0	0	0	3	1	2	1	5	3	1	1	5	3	1	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:51465428T>C	ENST00000374095.5	-	7	1153	c.1028A>G	c.(1027-1029)gAc>gGc	p.D343G		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	343	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GGTGTCCATGTCCTTGGATAG	0.557													48	221					0	0	0	0	C	51465428	T	C	51465428	3	2	296	1	0	0	0	0	1	0	0	0	373	1667	58	5	967	5	AGAP7	10	51465428	Missense_Mutation	SNP	T	TCGA-CV-7252-01A-11D-2012-08	18264919	51465428	84069319	120	52980											
LRRTM3	347731	broad.mit.edu	37	chr10	68687810	68687810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctctcccaaagccgaCgtttaagcccaagctcccca	10	6	8	17	2	1	0	0	0	1	0	3	1	2	0	5	1	3	3	5	1	3	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:68687810C>A	ENST00000361320.4	+	2	1714	c.1136C>A	c.(1135-1137)aCg>aAg	p.T379K	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	379						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CCAAAGCCGACGTTTAAGCCC	0.577													17	58					1.99824e-07	7.41304e-07	1	0	A	68687810	C	A	68687810	3	1	296	1	0	0	0	0	1	0	0	0	9105	536	19	3	1142	3	LRRTM3	10	68687810	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	17222382	68687810	66846937	121	52981											
COL13A1	1305	broad.mit.edu	37	chr10	71631932	71631932	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctacgtaaacgtcactcttCatttcagggtcccactggaa	10	11	7	13	2	4	0	3	0	1	0	5	1	5	1	2	2	2	1	2	2	4	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:71631932C>T	ENST00000356340.3	+	3	901	c.364_splice	c.e3-1	p.A122_splice	COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398964.3_Splice_Site_p.A122_splice|COL13A1_ENST00000398971.3_Splice_Site_p.A122_splice|COL13A1_ENST00000354547.3_Intron|COL13A1_ENST00000398978.3_Intron|COL13A1_ENST00000522165.1_Intron|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000357811.3_Intron|COL13A1_ENST00000398972.3_Intron|COL13A1_ENST00000398973.3_Intron|COL13A1_ENST00000398974.3_Splice_Site_p.A122_splice|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398968.3_Splice_Site_p.A122_splice|COL13A1_ENST00000398966.3_Splice_Site_p.A122_splice			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	122	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CGTCACTCTTCATTTCAGGGT	0.483													8	36					0	0	0	0	T	71631932	C	T	71631932	5	4	296	1	0	0	0	0	0	0	1	0	3700	841	29	2		2	COL13A1	10	71631932	Splice_Site	SNP	C	TCGA-CV-7252-01A-11D-2012-08	2944122	71631932	63902815	122	52982											
C10orf54	64115	broad.mit.edu	37	chr10	73515124	73515124	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggaatactcacggcggttgGaggctgcctgcctttgcttg	6	11	14	10	2	1	0	1	0	0	0	1	2	1	2	2	5	4	3	2	5	2	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:73515124G>C	ENST00000394957.3	-	4	726	c.668C>G	c.(667-669)tCc>tGc	p.S223C	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	223						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ACGGCGGTTGGAGGCTGCCTG	0.637													7	18					0	0	0	0	C	73515124	G	C	73515124	3	2	296	1	0	0	0	0	1	0	0	0	1617	1174	41	2	283	2	C10orf54	10	73515124	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	1883192	73515124	62019623	123	52983											
CDH23	64072	broad.mit.edu	37	chr10	73537541	73537541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgagggcccagacacgctCaacaccagcctcatcaccat	12	5	8	16	1	3	2	3	1	0	1	3	3	3	2	4	1	2	1	4	1	1	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:73537541C>T	ENST00000224721.6	+	38	4970	c.4965C>T	c.(4963-4965)ctC>ctT	p.L1655L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1650	Cadherin 16.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGACACGCTCAACACCAGCC	0.582													13	38					0	0	0	0	T	73537541	C	T	73537541	2	4	296	1	0	0	0	0	0	0	0	1	3137	813	29	2		2	CDH23	10	73537541	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	22417	73537541	61997206	124	52984											
CYP26C1	340665	broad.mit.edu	37	chr10	94828253	94828253	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccgttcggcggcggtgcGcgcagctgcctcggccagga	4	6	16	15	7	0	0	0	0	0	0	3	1	1	1	3	5	3	3	3	5	0	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:94828253G>A	ENST00000285949.5	+	6	1368	c.1368G>A	c.(1366-1368)gcG>gcA	p.A456A		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	456					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GCGGCGGTGCGCGCAGCTGCC	0.706													5	24					0	0	0	0	A	94828253	G	A	94828253	2	1	296	1	0	0	0	0	0	0	0	1	4189	1074	38	1		1	CYP26C1	10	94828253	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	21290712	94828253	40706494	125	52985											
ENTPD7	57089	broad.mit.edu	37	chr10	101458317	101458317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagaagacaggtctgaGtcccgacaatccatttctgg	10	10	11	10	1	3	3	1	1	2	2	5	4	5	3	2	3	0	0	2	3	2	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:101458317G>A	ENST00000370489.4	+	10	1215	c.1037G>A	c.(1036-1038)aGt>aAt	p.S346N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	346						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ACAGGTCTGAGTCCCGACAAT	0.473													15	43					0	0	0	0	A	101458317	G	A	101458317	3	1	296	1	0	0	0	0	1	0	0	0	5182	1029	36	4	1071	4	ENTPD7	10	101458317	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	6630064	101458317	34076430	126	52986											
FAM178A	55719	broad.mit.edu	37	chr10	102676401	102676401	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattgtctatcactgggacaGagcagtttgaaaggaaacta	14	10	11	6	0	2	2	1	1	1	1	2	5	2	4	0	2	2	2	0	2	4	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:102676401G>C	ENST00000238961.3	+	3	407	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	FAM178A_ENST00000370269.3_Missense_Mutation_p.E87Q|FAM178A_ENST00000370271.3_Missense_Mutation_p.E87Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	87																	CACTGGGACAGAGCAGTTTGA	0.373													10	26					0	0	0	0	C	102676401	G	C	102676401	3	2	296	1	0	0	0	0	1	0	0	0	5544	943	33	2	269	2	FAM178A	10	102676401	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	1218084	102676401	32858346	127	52987											
HPS6	79803	broad.mit.edu	37	chr10	103826348	103826348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaagagctggagacccgaGggaatcttcgtctgctttca	10	9	13	9	2	3	2	1	0	2	2	4	6	3	4	1	3	2	2	1	3	2	2	rs140222296		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:103826348G>A	ENST00000299238.5	+	1	1202	c.1117G>A	c.(1117-1119)Ggg>Agg	p.G373R		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	373						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGAGACCCGAGGGAATCTTCG	0.572									Hermansky-Pudlak syndrome				11	60					0	0	0	0	A	103826348	G	A	103826348	3	1	296	1	0	0	0	0	1	0	0	0	7393	1000	35	4	1119	4	HPS6	10	103826348	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	1149947	103826348	31708399	128	52988											
GPAM	57678	broad.mit.edu	37	chr10	113933472	113933472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatacctgatcattgccggtGagacagtggcaaccatttct	11	11	9	10	1	2	2	1	2	1	1	2	3	2	2	3	2	3	1	3	2	3	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:113933472G>A	ENST00000348367.4	-	7	742	c.545C>T	c.(544-546)tCa>tTa	p.S182L	GPAM_ENST00000423155.1_Missense_Mutation_p.S182L|GPAM_ENST00000369425.1_Missense_Mutation_p.S182L			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	182					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CATTGCCGGTGAGACAGTGGC	0.403													19	47					0	0	0	0	A	113933472	G	A	113933472	3	1	296	1	0	0	0	0	1	0	0	0	6637	1294	45	2	2005	2	GPAM	10	113933472	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	10107124	113933472	21601275	129	52989											
BET1L	51272	broad.mit.edu	37	chr11	205338	205338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaagaagtaggagaggatGaagaaggccacaattagacc	18	4	13	6	0	0	5	0	1	0	4	0	8	0	6	2	3	0	1	2	3	7	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:205338G>A	ENST00000382762.3	-	4	406	c.300C>T	c.(298-300)ttC>ttT	p.F100F	BET1L_ENST00000529614.2_Silent_p.F81F|RP11-304M2.5_ENST00000526963.1_RNA|BET1L_ENST00000410108.1_Intron|BET1L_ENST00000486280.1_Silent_p.F77F|BET1L_ENST00000325147.9_3'UTR|BET1L_ENST00000332865.6_3'UTR	NM_001098787.1|NM_016526.4	NP_001092257.1|NP_057610.2	Q9NYM9	BET1L_HUMAN	Bet1 golgi vesicular membrane trafficking protein-like	100					protein transport|retrograde transport, endosome to Golgi	endosome|SNARE complex	SNAP receptor activity						all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGAGAGGATGAAGAAGGCCA	0.567													9	28					0	0	0	0	A	205338	G	A	205338	2	1	296	1	0	0	0	0	0	0	0	1	1413	1281	45	2		2	BET1L	11	205338	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08		205338	134801178	130	52990											
STK33	65975	broad.mit.edu	37	chr11	8478907	8478907	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattattgtgaagatatgcTatagctgatgcgagactttg	11	14	10	6	1	0	4	0	2	0	2	0	5	0	4	1	0	3	2	1	0	5	6			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:8478907T>A	ENST00000447869.1	-	5	1596	c.678A>T	c.(676-678)atA>atT	p.I226I	STK33_ENST00000315204.1_Silent_p.I226I|STK33_ENST00000534493.1_Silent_p.I185I|STK33_ENST00000396672.1_Silent_p.I226I|STK33_ENST00000396673.1_Silent_p.I226I|STK33_ENST00000358872.3_Silent_p.I39I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	226	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GAAGATATGCTATAGCTGATG	0.388													12	39					0	0	0	0	A	8478907	T	A	8478907	2	1	296	1	0	0	0	0	0	0	0	1	15390	1512	53	5		5	STK33	11	8478907	Silent	SNP	T	TCGA-CV-7252-01A-11D-2012-08	8273569	8478907	126527609	131	52991											
PAMR1	25891	broad.mit.edu	37	chr11	35456112	35456112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catcatcccggtagaatttcCccaaaacaactttcaggtct	12	11	5	13	1	3	1	2	0	1	1	5	1	5	1	3	2	2	1	3	2	5	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:35456112C>T	ENST00000378880.2	-	10	2019	c.1574G>A	c.(1573-1575)gGg>gAg	p.G525E	PAMR1_ENST00000378878.3_Missense_Mutation_p.G414E|PAMR1_ENST00000532848.1_Missense_Mutation_p.G485E|PAMR1_ENST00000278360.3_Missense_Mutation_p.G542E	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	525	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GTAGAATTTCCCCAAAACAAC	0.537													23	107					0	0	0	0	T	35456112	C	T	35456112	3	4	296	1	0	0	0	0	1	0	0	0	11484	623	22	4	596	4	PAMR1	11	35456112	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	26977205	35456112	99550404	132	52992											
F2	2147	broad.mit.edu	37	chr11	46747651	46747651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctgccgcaacccagacgggGatgaggagggcgtgtggtgc	7	6	18	10	3	1	2	0	1	1	1	1	4	1	4	2	5	3	1	2	5	1	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:46747651G>A	ENST00000311907.5	+	7	858	c.802G>A	c.(802-804)Gat>Aat	p.D268N	F2_ENST00000530231.1_Missense_Mutation_p.D268N	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	268	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CCCAGACGGGGATGAGGAGGG	0.632													21	121					0	0	0	0	A	46747651	G	A	46747651	3	1	296	1	0	0	0	0	1	0	0	0	5380	1174	41	2	828	2	F2	11	46747651	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	11291539	46747651	88258865	133	52993											
OR5L2	26338	broad.mit.edu	37	chr11	55594959	55594959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggctaatatctttaacaagGacaaagccatctccttccta	13	12	5	11	0	2	0	0	0	2	0	4	1	3	1	3	2	2	1	3	2	6	6			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:55594959G>A	ENST00000378397.1	+	1	265	c.265G>A	c.(265-267)Gac>Aac	p.D89N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTTTAACAAGGACAAAGCCAT	0.473										HNSCC(27;0.073)			53	68					0	0	0	0	A	55594959	G	A	55594959	3	1	296	1	0	0	0	0	1	0	0	0	11242	1174	41	2	267	2	OR5L2	11	55594959	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	8847308	55594959	79411557	134	52994											
OR5M8	219484	broad.mit.edu	37	chr11	56258161	56258161	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttttgcctgccctctgtaGagcgaatctttaaaatagca	10	14	7	10	1	2	1	0	0	2	1	2	2	2	1	2	0	4	2	2	0	5	6			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:56258161G>C	ENST00000327216.2	-	1	710	c.686C>G	c.(685-687)tCt>tGt	p.S229C		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCCCTCTGTAGAGCGAATCTT	0.413													8	47					0	0	0	0	C	56258161	G	C	56258161	3	2	296	1	0	0	0	0	1	0	0	0	11247	942	33	2	253	2	OR5M8	11	56258161	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	663202	56258161	78748355	135	52995											
OR5M11	219487	broad.mit.edu	37	chr11	56309925	56309925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagacagctattattttaGattcctcaacagtcttatct	14	15	4	8	0	3	2	1	0	2	2	4	2	4	2	1	0	2	1	1	0	7	6			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:56309925G>T	ENST00000528616.2	-	1	832	c.809C>A	c.(808-810)tCt>tAt	p.S270Y		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TATTATTTTAGATTCCTCAAC	0.408													23	69					9.95505e-16	3.86898e-15	1	0	T	56309925	G	T	56309925	3	4	296	1	0	0	0	0	1	0	0	0	11245	942	33	2	111	2	OR5M11	11	56309925	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	51764	56309925	78696591	136	52996											
PRG3	10394	broad.mit.edu	37	chr11	57145249	57145249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccattcccaggttgccctgGggaccagtaagcaaaattcc	10	8	9	14	0	0	0	0	0	0	0	2	1	2	1	5	3	2	3	5	3	3	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:57145249G>A	ENST00000287143.2	-	5	677	c.568C>T	c.(568-570)Cca>Tca	p.P190S		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	190	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						GGTTGCCCTGGGGACCAGTAA	0.557													12	34					0	0	0	0	A	57145249	G	A	57145249	3	1	296	1	0	0	0	0	1	0	0	0	12560	1232	43	4	117	4	PRG3	11	57145249	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	835324	57145249	77861267	137	52997											
DDB1	1642	broad.mit.edu	37	chr11	61084032	61084032	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttagggtcagaccgcagtggCcataatcctggaacaaggac	12	7	12	10	1	1	1	1	0	0	1	2	3	2	3	3	4	1	1	3	4	4	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:61084032C>T	ENST00000301764.7	-	11	1630	c.1233G>A	c.(1231-1233)tgG>tgA	p.W411*	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	411	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ACCGCAGTGGCCATAATCCTG	0.532								Nucleotide excision repair (NER)					29	104					0	0	0	0	T	61084032	C	T	61084032	4	4	296	1	0	0	0	0	0	1	0	0	4355	740	26	4	2257	4	DDB1	11	61084032	Nonsense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	3938783	61084032	73922484	138	52998											
FADS2	9415	broad.mit.edu	37	chr11	61632693	61632693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagtctctatgtgccaaGcatggcattgaataccagga	12	10	11	8	0	1	2	0	2	1	0	2	3	1	3	2	2	3	2	2	2	5	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:61632693G>T	ENST00000278840.4	+	11	1857	c.1227G>T	c.(1225-1227)aaG>aaT	p.K409N	FADS2_ENST00000522056.1_Missense_Mutation_p.K378N|FADS2_ENST00000257261.6_Missense_Mutation_p.K387N	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	409					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TATGTGCCAAGCATGGCATTG	0.612													18	55					4.75885e-15	1.83605e-14	1	0	T	61632693	G	T	61632693	3	4	296	1	0	0	0	0	1	0	0	0	5407	962	34	4	1269	4	FADS2	11	61632693	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	548661	61632693	73373823	139	52999											
KAT5	10524	broad.mit.edu	37	chr11	65484420	65484420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaccctgcctccctaccagCgccggggctacggcaagctg	7	6	11	17	3	0	0	0	0	0	0	1	0	1	0	5	3	6	3	5	3	4	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:65484420C>T	ENST00000341318.4	+	10	1465	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	KAT5_ENST00000530446.1_Missense_Mutation_p.R359C|KAT5_ENST00000534650.1_Missense_Mutation_p.R167C|KAT5_ENST00000377046.3_Missense_Mutation_p.R378C|KAT5_ENST00000352980.4_Missense_Mutation_p.R326C	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	378					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						TCCCTACCAGCGCCGGGGCTA	0.592													28	85					0	0	0	0	T	65484420	C	T	65484420	3	4	296	1	0	0	0	0	1	0	0	0	8036	768	27	1	1269	1	KAT5	11	65484420	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	3851727	65484420	69522096	140	53000											
CATSPER1	117144	broad.mit.edu	37	chr11	65788061	65788061	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatgaagtactggatgatGatgtaaattacgaggatggg	15	10	14	2	1	0	4	0	3	0	1	0	7	0	6	0	3	2	2	0	3	6	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:65788061G>A	ENST00000312106.5	-	7	2102	c.1965C>T	c.(1963-1965)atC>atT	p.I655I		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	655					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ACTGGATGATGATGTAAATTA	0.597													9	39					0	0	0	0	A	65788061	G	A	65788061	2	1	296	1	0	0	0	0	0	0	0	1	2712	1280	45	2		2	CATSPER1	11	65788061	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	303641	65788061	69218455	141	53001											
C11orf87	399947	broad.mit.edu	37	chr11	109294892	109294892	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccccaaggagcacacgCagcttcctcctgtttggaca	9	8	9	15	1	0	0	0	0	0	0	3	2	3	2	4	2	2	4	4	2	1	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:109294892C>A	ENST00000327419.6	+	2	936	c.533C>A	c.(532-534)gCa>gAa	p.A178E	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	178						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGAGCACACGCAGCTTCCTCC	0.637													21	34					4.35082e-09	1.62543e-08	1	0	A	109294892	C	A	109294892	3	1	296	1	0	0	0	0	1	0	0	0	1680	710	25	4	535	4	C11orf87	11	109294892	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	43506831	109294892	25711624	142	53002											
APLP2	334	broad.mit.edu	37	chr11	130000002	130000002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcgcttacataccatcCgtcattaccagcatgtgttg	11	12	7	11	2	1	1	1	0	0	1	3	1	2	1	3	0	4	3	3	0	4	4	rs149975560		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:130000002C>T	ENST00000263574.5	+	11	1597	c.1525C>T	c.(1525-1527)Cgt>Tgt	p.R509C	APLP2_ENST00000278756.7_Missense_Mutation_p.R519C|APLP2_ENST00000345598.5_Missense_Mutation_p.R280C|APLP2_ENST00000543137.1_Missense_Mutation_p.R416C|APLP2_ENST00000338167.5_Missense_Mutation_p.R509C|APLP2_ENST00000539648.1_Missense_Mutation_p.R297C|APLP2_ENST00000528499.1_Missense_Mutation_p.R453C	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	509					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ACATACCATCCGTCATTACCA	0.478													24	113					0	0	0	0	T	130000002	C	T	130000002	3	4	296	1	0	0	0	0	1	0	0	0	781	652	23	1	1567	1	APLP2	11	130000002	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	20705110	130000002	5006514	143	53003											
A2ML1	144568	broad.mit.edu	37	chr12	9021141	9021141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctgctctcagttatgtggGgagccgtagctcttccaata	7	13	10	11	1	2	0	1	0	2	0	5	1	4	1	3	2	3	4	3	2	4	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:9021141G>A	ENST00000299698.7	+	32	4250	c.4070G>A	c.(4069-4071)gGg>gAg	p.G1357E	A2ML1_ENST00000539547.1_Missense_Mutation_p.G866E	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1201						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGTTATGTGGGGAGCCGTAGC	0.463													40	97					0	0	0	0	A	9021141	G	A	9021141	3	1	296	1	0	0	0	0	1	0	0	0	5	1232	43	4	4196	4	A2ML1	12	9021141	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08		9021141	124830754	144	53004											
PRB3	5544	broad.mit.edu	37	chr12	11422583	11422583	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggccagcagggccacCgacagcagaatcagtagcat	12	4	12	13	1	2	1	2	0	0	1	2	2	2	1	3	2	3	4	3	2	2	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:11422583C>T	ENST00000381842.3	-	0	58				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GCAGGGCCACCGACAGCAGAA	0.532													18	69					0	0	0	0	T	11422583	C	T	11422583	1	4	296	0	1	0	0	0	0	0	0	0	12524	639	23	1		1	PRB3	12	11422583	RNA	SNP	C	TCGA-CV-7252-01A-11D-2012-08	2401442	11422583	122429312	145	53005											
LRP6	4040	broad.mit.edu	37	chr12	12318022	12318022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagttactcaccaatcactcGatgaacatttgtagccttta	12	13	6	10	1	2	1	2	1	0	0	3	3	2	1	2	0	3	2	2	0	5	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:12318022G>A	ENST00000261349.4	-	8	1829	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	LRP6_ENST00000543091.1_Nonsense_Mutation_p.R585*	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	585	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCAATCACTCGATGAACATTT	0.423													31	91					0	0	0	0	A	12318022	G	A	12318022	4	1	296	1	0	0	0	0	0	1	0	0	9026	1066	37	1	3152	1	LRP6	12	12318022	Nonsense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	895439	12318022	121533873	146	53006											
DENND5B	160518	broad.mit.edu	37	chr12	31605306	31605306	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatcccaaattgaacaagAacctcagagagttcttggat	14	9	10	8	0	2	3	1	1	1	2	3	6	3	5	2	2	2	1	2	2	4	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:31605306A>T	ENST00000389082.5	-	5	1461	c.1197T>A	c.(1195-1197)gtT>gtA	p.V399V	DENND5B_ENST00000306833.6_Silent_p.V434V|DENND5B_ENST00000536562.1_Silent_p.V434V|DENND5B_ENST00000354285.4_Silent_p.V421V	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	399						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATTGAACAAGAACCTCAGAGA	0.403													17	66					0	0	0	0	T	31605306	A	T	31605306	2	4	296	1	0	0	0	0	0	0	0	1	4474	233	9	5		5	DENND5B	12	31605306	Silent	SNP	A	TCGA-CV-7252-01A-11D-2012-08	19287284	31605306	102246589	147	53007											
ADAMTS20	80070	broad.mit.edu	37	chr12	43777495	43777495	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttatctgtgcactccattcGttgatgtgaatcttttctct	6	19	7	9	1	3	2	0	2	3	0	6	2	4	2	1	0	1	3	1	0	2	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:43777495G>A	ENST00000389420.3	-	31	4662	c.4663C>T	c.(4663-4665)Cga>Tga	p.R1555*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1555	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding	p.R1555*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CACTCCATTCGTTGATGTGAA	0.343													8	55					0	0	0	0	A	43777495	G	A	43777495	4	1	296	1	0	0	0	0	0	1	0	0	266	1153	40	1	1104	1	ADAMTS20	12	43777495	Nonsense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	12172189	43777495	90074400	148	53008											
ARID2	196528	broad.mit.edu	37	chr12	46123891	46123892	+	Frame_Shift_Del	DEL	AG	AG	-																															atcttcacggtctctacaccAgagtcactactttaggcgga																										TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:46123891_46123892delAG	ENST00000334344.6	+	2	329_330	c.157_158delAG	c.(157-159)afs	p.R53fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	53	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTCTACACCAGAGTCACTACT	0.53			"N, S, F"		hepatocellular carcinoma								10	30	---	---	---	---					-	46123892	AG	-	46123891	7	5	296	1	0	1	0	1	0	0	0	0	917	180	7	0	163	0	ARID2	12	46123891	Frame_Shift_Del	DEL	AG	TCGA-CV-7252-01A-11D-2012-08	2346396	46123891	87728004	149	53009											
ARID2	196528	broad.mit.edu	37	chr12	46245639	46245639	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgataaaataatttgcCaaaaggaggaggaagcaaag	20	6	12	3	0	0	1	0	1	0	0	0	4	0	4	1	4	2	1	1	4	8	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:46245639C>T	ENST00000334344.6	+	15	3905	c.3733C>T	c.(3733-3735)Caa>Taa	p.Q1245*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1096*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q855*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1245					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AATAATTTGCCAAAAGGAGGA	0.458			"N, S, F"		hepatocellular carcinoma								14	57					0	0	0	0	T	46245639	C	T	46245639	4	4	296	1	0	0	0	0	0	1	0	0	917	595	21	4	3791	4	ARID2	12	46245639	Nonsense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	121748	46245639	87606256	150	53010											
ACVR1B	91	broad.mit.edu	37	chr12	52369156	52369156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggatggagcaccatgtgCgcacctgcatccccaaagtg	10	7	12	12	1	0	0	0	0	0	0	1	2	1	2	4	2	3	3	4	2	1	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:52369156C>T	ENST00000257963.4	+	2	276	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	ACVR1B_ENST00000542485.1_Missense_Mutation_p.R15C|ACVR1B_ENST00000415850.2_Missense_Mutation_p.R67C|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R67C|ACVR1B_ENST00000426655.2_Missense_Mutation_p.R67C	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	67					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GCACCATGTGCGCACCTGCAT	0.592													18	46					0	0	0	0	T	52369156	C	T	52369156	3	4	296	1	0	0	0	0	1	0	0	0	221	768	27	1	205	1	ACVR1B	12	52369156	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	6123517	52369156	81482739	151	53011											
HOXC11	3227	broad.mit.edu	37	chr12	54367367	54367367	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgtcaccgagatcctCatgaaaaacgaaggctccta	13	7	7	14	3	2	2	2	1	0	1	5	4	5	2	5	1	1	1	5	1	4	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:54367367C>A	ENST00000546378.1	+	1	458	c.342C>A	c.(340-342)ctC>ctA	p.L114L	HOXC11_ENST00000243082.4_Silent_p.L114L|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	114					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CCGAGATCCTCATGAAAAACG	0.637			T	NUP98	AML								54	193					2.47907e-22	9.81451e-22	1	0	A	54367367	C	A	54367367	2	1	296	1	0	0	0	0	0	0	0	1	7360	813	29	2		2	HOXC11	12	54367367	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1998211	54367367	79484528	152	53012											
MYL6	4637	broad.mit.edu	37	chr12	56552256	56552256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaagagacgggtggggggcGaggagaaggcaggggtagga	11	2	25	3	2	0	2	0	0	0	2	0	7	0	4	0	10	0	2	0	10	3	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:56552256G>A	ENST00000536128.1	+	1	111	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	MYL6_ENST00000548293.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.R24Q|MYL6_ENST00000550697.1_Intron|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000547408.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0	EF-hand 1.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGTGGGGGGCGAGGAGAAGGC	0.637													6	18					0	0	0	0	A	56552256	G	A	56552256	3	1	296	1	0	0	0	0	1	0	0	0	10121	1073	37	1		1	MYL6	12	56552256	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	2184889	56552256	77299639	153	53013											
DPY19L2	283417	broad.mit.edu	37	chr12	63964555	63964555	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctcaagtctgcatcttcGtaatgtggatgattcacaat	12	13	7	9	1	4	1	2	1	2	0	5	2	4	2	1	1	2	2	1	1	4	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:63964555G>T	ENST00000324472.4	-	20	2166	c.1983C>A	c.(1981-1983)taC>taA	p.Y661*	DPY19L2_ENST00000413230.2_Nonsense_Mutation_p.Y108*	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	661					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTGCATCTTCGTAATGTGGAT	0.418													18	89					1.33834e-09	5.03537e-09	1	0	T	63964555	G	T	63964555	4	4	296	1	0	0	0	0	0	1	0	0	4777	1140	40	3	305	3	DPY19L2	12	63964555	Nonsense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	7412299	63964555	69887340	154	53014											
ZFC3H1	196441	broad.mit.edu	37	chr12	72005625	72005625	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacatcttggcttgaagtttCagaatctgaacattgctttc	11	15	7	8	0	3	3	1	2	2	1	4	3	3	3	0	1	3	3	0	1	4	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:72005625C>G	ENST00000378743.3	-	32	6028	c.5670G>C	c.(5668-5670)ctG>ctC	p.L1890L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1890					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTTGAAGTTTCAGAATCTGAA	0.363													12	45					0	0	0	0	G	72005625	C	G	72005625	2	3	296	1	0	0	0	0	0	0	0	1	17728	813	29	2		2	ZFC3H1	12	72005625	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	8041070	72005625	61846270	155	53015											
ALX1	8092	broad.mit.edu	37	chr12	85695240	85695240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagcacaccgccaatatttCatgggccatgtaacatacag	13	8	9	11	1	1	0	1	0	0	0	1	1	1	1	3	2	3	2	3	2	4	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:85695240C>T	ENST00000316824.3	+	4	1123	c.968C>T	c.(967-969)tCa>tTa	p.S323L		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	323					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCCAATATTTCATGGGCCATG	0.368													16	50					0	0	0	0	T	85695240	C	T	85695240	3	4	296	1	0	0	0	0	1	0	0	0	556	838	29	2	982	2	ALX1	12	85695240	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	13689615	85695240	48156655	156	53016											
ANKRD13A	88455	broad.mit.edu	37	chr12	110474131	110474131	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctatgacgcccagtatgaGaggtgattgactgacgtgac	11	9	12	9	2	0	6	0	6	0	1	0	7	0	6	2	1	0	1	2	1	2	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:110474131G>C	ENST00000261739.4	+	14	1741	c.1575G>C	c.(1573-1575)gaG>gaC	p.E525D	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	525										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CCCAGTATGAGAGGTGATTGA	0.517													28	105					0	0	0	0	C	110474131	G	C	110474131	3	2	296	1	0	0	0	0	1	0	0	0	641	933	33	2	1629	2	ANKRD13A	12	110474131	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	24778891	110474131	23377764	157	53017											
KDM2B	84678	broad.mit.edu	37	chr12	121947475	121947475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagagctttcaggcccttCagttcaaactcagtgagatg	11	10	9	11	0	4	2	4	1	0	2	4	3	4	2	2	1	2	2	2	1	1	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:121947475C>T	ENST00000377069.4	-	11	1855	c.1449G>A	c.(1447-1449)ctG>ctA	p.L483L	KDM2B_ENST00000538046.2_Silent_p.L424L|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000536437.1_Silent_p.L397L|KDM2B_ENST00000377071.4_Silent_p.L514L	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	514					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCAGGCCCTTCAGTTCAAACT	0.597													16	59					0	0	0	0	T	121947475	C	T	121947475	2	4	296	1	0	0	0	0	0	0	0	1	8178	813	29	2		2	KDM2B	12	121947475	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	11473344	121947475	11904420	158	53018											
MMP17	4326	broad.mit.edu	37	chr12	132326314	132326314	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgctacgggctcccctaCgaggacaaggtgcgcgtctg	6	7	14	14	5	1	0	0	0	1	0	2	2	2	1	2	3	4	2	2	3	3	2	rs73162905	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:132326314C>T	ENST00000360564.1	+	5	954	c.852C>T	c.(850-852)taC>taT	p.Y284Y	MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Silent_p.Y200Y	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	284					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GGCTCCCCTACGAGGACAAGG	0.662													8	14					0	0	0	0	T	132326314	C	T	132326314	2	4	296	1	0	0	0	0	0	0	0	1	9725	547	19	1		1	MMP17	12	132326314	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	10378839	132326314	1525581	159	53019											
ULK1	8408	broad.mit.edu	37	chr12	132401500	132401500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgcacactcccacaggtCtttcagcaccagccgcctca	8	7	6	20	1	3	0	2	0	1	0	4	0	4	0	5	1	3	2	5	1	0	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:132401500C>T	ENST00000321867.4	+	21	2426	c.2075C>T	c.(2074-2076)tCt>tTt	p.S692F		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	692					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TCCCACAGGTCTTTCAGCACC	0.657													5	44					0	0	0	0	T	132401500	C	T	132401500	3	4	296	1	0	0	0	0	1	0	0	0	17071	913	32	2	2157	2	ULK1	12	132401500	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	75186	132401500	1450395	160	53020											
KCTD4	386618	broad.mit.edu	37	chr13	45768657	45768657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggctgttgtgtttccCttcatactccttttcttttt	3	22	5	11	0	2	0	1	0	1	0	5	0	5	0	3	1	1	3	3	1	1	9			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:45768657C>T	ENST00000405872.1	-	2	449	c.46G>A	c.(46-48)Ggg>Agg	p.G16R	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000379108.1_Missense_Mutation_p.G16R	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	16						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTGTGTTTCCCTTCATACTCC	0.353													40	121					0	0	0	0	T	45768657	C	T	45768657	3	4	296	1	0	0	0	0	1	0	0	0	8164	681	24	4	737	4	KCTD4	13	45768657	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08		45768657	69401221	161	53021											
CPB2	1361	broad.mit.edu	37	chr13	46632457	46632457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgccttcacttctggttCtgactcaggataaagtccac	9	12	7	13	0	4	1	2	1	2	0	5	2	5	2	2	2	1	1	2	2	2	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:46632457C>G	ENST00000181383.4	-	9	872	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.E249Q|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	286					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ACTTCTGGTTCTGACTCAGGA	0.428													16	91					0	0	0	0	G	46632457	C	G	46632457	3	3	296	1	0	0	0	0	1	0	0	0	3827	922	32	2	427	2	CPB2	13	46632457	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	863800	46632457	68537421	162	53022											
CLDN10	9071	broad.mit.edu	37	chr13	96205036	96205036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacggcttcggagatcatcgCcttcatggtctccatctcag	7	11	9	14	3	4	1	3	0	2	1	8	2	4	1	2	3	0	1	2	3	0	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:96205036C>T	ENST00000299339.2	+	1	58	c.29C>T	c.(28-30)gCc>gTc	p.A10V	CLDN10_ENST00000376873.3_Intron	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	10					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GAGATCATCGCCTTCATGGTC	0.672													13	18					0	0	0	0	T	96205036	C	T	96205036	3	4	296	1	0	0	0	0	1	0	0	0	3502	739	26	4	249	4	CLDN10	13	96205036	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	49572579	96205036	18964842	163	53023											
ARGLU1	55082	broad.mit.edu	37	chr13	107219952	107219953	+	In_Frame_Ins	INS	-	-	CTC																															cgctcgaactccgctttcttINSctcctcctcctctcgcttct																										TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:107219952_107219953insCTC	ENST00000400198.3	-	1	559_560	c.315_316insGAG	c.(313-318)gaagaa>gaGAGagaa	p.105_106EE>ERE		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	105	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCGCTTTCTTCTCCTCCTCCT	0.713													20	86	---	---	---	---					CTC	107219953	-	CTC	107219952	7	5	296	1	0	1	1	0	0	0	0	0	862	1792	62	0	521	0	ARGLU1	13	107219952	In_Frame_Ins	INS	-	TCGA-CV-7252-01A-11D-2012-08	11014916	107219952	7949926	164	53024											
PCK2	5106	broad.mit.edu	37	chr14	24566131	24566131	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggctgagccccttgggCtggccatcatgccgtagcat	6	9	13	13	1	1	1	1	1	0	0	1	1	1	1	4	3	3	4	4	3	1	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:24566131C>A	ENST00000216780.4	+	2	328	c.60C>A	c.(58-60)ggC>ggA	p.G20G	PCK2_ENST00000561286.1_Intron|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000559250.1_Silent_p.G32G|PCK2_ENST00000396973.4_Silent_p.G20G|PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000545054.2_5'UTR	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	20					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GCCCCTTGGGCTGGCCATCAT	0.567													28	115					2.79863e-10	1.06048e-09	1	0	A	24566131	C	A	24566131	2	1	296	1	0	0	0	0	0	0	0	1	11653	784	28	4		4	PCK2	14	24566131	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08		24566131	82783409	165	53025											
NFATC4	4776	broad.mit.edu	37	chr14	24845916	24845916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catccccaccgcttgaaggcCccttcccttcccagagtgat	7	9	7	18	1	0	3	0	2	0	1	3	3	3	3	7	1	0	1	7	1	1	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:24845916C>T	ENST00000413692.2	+	10	2806	c.2662C>T	c.(2662-2664)Ccc>Tcc	p.P888S	NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000556759.1_Missense_Mutation_p.P360S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P857S|NFATC4_ENST00000555167.1_Missense_Mutation_p.P360S|NFATC4_ENST00000555802.1_Missense_Mutation_p.P113S|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000539237.2_Missense_Mutation_p.P857S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P838S|NFATC4_ENST00000555393.1_Missense_Mutation_p.P113S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P755S|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000554344.1_Missense_Mutation_p.P755S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P755S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P825S|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000555453.1_Missense_Mutation_p.P813S|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000424781.2_Missense_Mutation_p.P838S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P825S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P813S	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	825					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GCTTGAAGGCCCCTTCCCTTC	0.642													40	181					0	0	0	0	T	24845916	C	T	24845916	3	4	296	1	0	0	0	0	1	0	0	0	10435	623	22	4	2700	4	NFATC4	14	24845916	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	279785	24845916	82503624	166	53026											
NFKBIA	4792	broad.mit.edu	37	chr14	35872923	35872923	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggttgttctggaagttgagGaaggccaggtctcccttcac	8	11	13	9	0	3	1	1	1	2	0	4	3	3	3	2	5	0	3	2	5	2	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:35872923G>A	ENST00000216797.5	-	2	410	c.309C>T	c.(307-309)ttC>ttT	p.F103F	NFKBIA_ENST00000557389.1_Silent_p.F13F|NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Silent_p.F103F	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	103					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GGAAGTTGAGGAAGGCCAGGT	0.582													6	28					0	0	0	0	A	35872923	G	A	35872923	2	1	296	1	0	0	0	0	0	0	0	1	10447	1165	41	2		2	NFKBIA	14	35872923	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	11027007	35872923	71476617	167	53027											
FSCB	84075	broad.mit.edu	37	chr14	44975031	44975031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggagccttttgtgctgagGgagaccgaatttcaccaaga	10	10	13	8	1	1	3	1	1	0	2	1	6	1	4	3	2	2	1	3	2	2	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:44975031G>A	ENST00000340446.4	-	1	1451	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	387	Pro-rich.					cilium		p.P387L(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTGTGCTGAGGGAGACCGAAT	0.527													33	111					0	0	0	0	A	44975031	G	A	44975031	3	1	296	1	0	0	0	0	1	0	0	0	6114	1232	43	4	1321	4	FSCB	14	44975031	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	9102108	44975031	62374509	168	53028											
SLC8A3	6547	broad.mit.edu	37	chr14	70634140	70634140	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attggccatctccaccagctGatctaagtccttctctgggt	7	13	8	13	0	3	1	0	1	3	0	6	1	4	1	4	2	1	1	4	2	1	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:70634140G>A	ENST00000381269.2	-	2	1753	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.Q334*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	334					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCCACCAGCTGATCTAAGTCC	0.522													25	61					0	0	0	0	A	70634140	G	A	70634140	4	1	296	1	0	0	0	0	0	1	0	0	14796	1299	45	2	1922	2	SLC8A3	14	70634140	Nonsense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	25659109	70634140	36715400	169	53029											
SERPINA4	5267	broad.mit.edu	37	chr14	95035800	95035800	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcagccaccagcttcgcGatcaaattcttctctgccca	9	9	7	16	2	3	0	1	0	2	0	5	1	3	0	3	0	4	3	3	0	1	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:95035800G>A	ENST00000557004.1	+	5	1573	c.1152G>A	c.(1150-1152)gcG>gcA	p.A384A	SERPINA4_ENST00000298841.5_Silent_p.A384A|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.A384A			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	384					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCAGCTTCGCGATCAAATTCT	0.547													24	52					0	0	0	0	A	95035800	G	A	95035800	2	1	296	1	0	0	0	0	0	0	0	1	14178	1045	37	1		1	SERPINA4	14	95035800	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	24401660	95035800	12313740	170	53030											
KLC1	3831	broad.mit.edu	37	chr14	104142025	104142025	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattatttcttataatttaGggaaagcaaaaggatgggac	17	12	9	3	0	1	0	0	0	1	0	1	3	1	3	0	3	1	1	0	3	8	6			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:104142025G>A	ENST00000389744.4	+	11	1580		c.e11-1		KLC1_ENST00000380038.3_Splice_Site|KLC1_ENST00000555836.1_Splice_Site|KLC1_ENST00000557575.1_Splice_Site|KLC1_ENST00000557450.1_Splice_Site|KLC1_ENST00000347839.6_Splice_Site|RP11-73M18.2_ENST00000472726.2_Splice_Site|KLC1_ENST00000452929.2_Splice_Site|KLC1_ENST00000334553.6_Splice_Site|KLC1_ENST00000445352.4_Splice_Site|KLC1_ENST00000553286.1_Splice_Site|KLC1_ENST00000246489.7_Splice_Site|KLC1_ENST00000554280.1_Splice_Site|KLC1_ENST00000348520.6_Splice_Site			Q07866	KLC1_HUMAN	kinesin light chain 1						blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TTATAATTTAGGGAAAGCAAA	0.328													9	39					0	0	0	0	A	104142025	G	A	104142025	5	1	296	1	0	0	0	0	0	0	1	0	8385	1014	35	4	1349	4	KLC1	14	104142025	Splice_Site	SNP	G	TCGA-CV-7252-01A-11D-2012-08	9106225	104142025	3207515	171	53031											
PACS2	23241	broad.mit.edu	37	chr14	105843172	105843172	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggacctggacctcctgtAtgacaccctggacatggagc	9	7	13	12	0	0	1	0	1	0	0	1	6	1	6	4	5	1	1	4	5	1	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:105843172A>T	ENST00000447393.1	+	9	1044	c.869A>T	c.(868-870)tAt>tTt	p.Y290F	PACS2_ENST00000547217.1_Missense_Mutation_p.Y260F|PACS2_ENST00000430725.2_Missense_Mutation_p.Y215F|PACS2_ENST00000458164.2_Missense_Mutation_p.Y290F|PACS2_ENST00000325438.8_Missense_Mutation_p.Y290F	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	290					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GACCTCCTGTATGACACCCTG	0.667													23	38					0	0	0	0	T	105843172	A	T	105843172	3	4	296	1	0	0	0	0	1	0	0	0	11444	449	16	5	903	5	PACS2	14	105843172	Missense_Mutation	SNP	A	TCGA-CV-7252-01A-11D-2012-08	1701147	105843172	1506368	172	53032											
RYR3	6263	broad.mit.edu	37	chr15	34105687	34105687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtggaacagcctttgaggtCcaagaaggccgtctggcaca	10	7	14	10	1	1	2	0	1	1	1	2	3	2	3	3	5	2	1	3	5	3	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:34105687C>T	ENST00000389232.4	+	74	10479	c.10409C>T	c.(10408-10410)tCc>tTc	p.S3470F	RYR3_ENST00000415757.3_Missense_Mutation_p.S3465F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3470					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTTTGAGGTCCAAGAAGGCC	0.532													29	113					0	0	0	0	T	34105687	C	T	34105687	3	4	296	1	0	0	0	0	1	0	0	0	13855	855	30	2	10703	2	RYR3	15	34105687	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08		34105687	68425705	173	53033											
ACTC1	70	broad.mit.edu	37	chr15	35082673	35082673	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcgtactcttgcttgctaatCcacatttgctggaaggtgga	8	14	10	9	1	1	0	0	0	1	0	3	2	2	2	1	3	4	4	1	3	3	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:35082673C>G	ENST00000290378.4	-	7	1729	c.1074G>C	c.(1072-1074)tgG>tgC	p.W358C	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	358					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCTTGCTAATCCACATTTGCT	0.502													41	91					0	0	0	0	G	35082673	C	G	35082673	3	3	296	1	0	0	0	0	1	0	0	0	195	856	30	2	63	2	ACTC1	15	35082673	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	976986	35082673	67448719	174	53034											
MAP1A	4130	broad.mit.edu	37	chr15	43819190	43819190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactactccctcatggctggCtgacatcccaccctgggtgc	6	9	9	17	0	1	1	1	1	0	0	3	1	3	1	3	3	2	2	3	3	1	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:43819190C>A	ENST00000382031.1	+	5	6264	c.6233C>A	c.(6232-6234)gCt>gAt	p.A2078D	MAP1A_ENST00000399453.1_Missense_Mutation_p.A1840D|MAP1A_ENST00000300231.5_Missense_Mutation_p.A1840D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1840						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCATGGCTGGCTGACATCCCA	0.612													21	56					1.87028e-06	6.84265e-06	1	0	A	43819190	C	A	43819190	3	1	296	1	0	0	0	0	1	0	0	0	9296	797	28	4	5521	4	MAP1A	15	43819190	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	8736517	43819190	58712202	175	53035											
CATSPER2	117155	broad.mit.edu	37	chr15	43927989	43927989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccgacgcgccatctcctCattcagctctttcctgatat	6	13	5	17	3	4	1	2	1	2	0	7	2	6	1	4	0	1	1	4	0	1	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:43927989C>T	ENST00000396879.1	-	10	1169	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	CATSPER2_ENST00000354127.4_Missense_Mutation_p.E353K|CATSPER2_ENST00000321596.5_Missense_Mutation_p.E353K|CATSPER2_ENST00000381761.1_Missense_Mutation_p.E359K|CATSPER2_ENST00000355438.2_Missense_Mutation_p.E353K|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	353					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCCATCTCCTCATTCAGCTCT	0.502													16	43					0	0	0	0	T	43927989	C	T	43927989	3	4	296	1	0	0	0	0	1	0	0	0	2713	835	29	2	555	2	CATSPER2	15	43927989	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	108799	43927989	58603403	176	53036											
UNC13C	440279	broad.mit.edu	37	chr15	54306178	54306178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctattaaaattgaatttGctcagaggataggacaccag	15	11	9	6	0	1	2	1	1	0	1	1	4	1	4	1	2	2	2	1	2	5	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:54306178G>A	ENST00000545554.1	+	1	1078	c.1078G>A	c.(1078-1080)Gct>Act	p.A360T	UNC13C_ENST00000260323.11_Missense_Mutation_p.A360T|UNC13C_ENST00000537900.1_Missense_Mutation_p.A360T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	360					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATTGAATTTGCTCAGAGGAT	0.378													12	31					0	0	0	0	A	54306178	G	A	54306178	3	1	296	1	0	0	0	0	1	0	0	0	17082	1319	46	4	1080	4	UNC13C	15	54306178	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	10378189	54306178	48225214	177	53037											
LARP6	55323	broad.mit.edu	37	chr15	71124454	71124454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgtcaggacccctgggCaacctcagcacccctacggg	7	7	12	15	1	2	0	2	0	0	0	2	1	2	1	5	3	3	3	5	3	2	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:71124454C>A	ENST00000299213.8	-	3	1483	c.1413G>T	c.(1411-1413)ttG>ttT	p.L471F		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	471					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GACCCCTGGGCAACCTCAGCA	0.547													25	91					2.41591e-17	9.4586e-17	1	0	A	71124454	C	A	71124454	3	1	296	1	0	0	0	0	1	0	0	0	8685	709	25	4	66	4	LARP6	15	71124454	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	16818276	71124454	31406938	178	53038											
KIAA1199	57214	broad.mit.edu	37	chr15	81230170	81230170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtggggctctgctacccgcGaggcaccacattctccatcc	7	8	10	16	2	2	0	0	0	2	0	4	1	3	0	4	3	2	3	4	3	1	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:81230170G>A	ENST00000394685.3	+	25	3676	c.3257G>A	c.(3256-3258)cGa>cAa	p.R1086Q	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.R1086Q|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R1086Q			Q8WUJ3	K1199_HUMAN	KIAA1199	1086										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGCTACCCGCGAGGCACCACA	0.572													37	91					0	0	0	0	A	81230170	G	A	81230170	3	1	296	1	0	0	0	0	1	0	0	0	8264	1058	37	1	3347	1	KIAA1199	15	81230170	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	10105716	81230170	21301222	179	53039											
TMC3	342125	broad.mit.edu	37	chr15	81648086	81648086	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtttttgcttttctttttCtcctgttcttccaatatagc	5	22	5	9	0	3	0	0	0	3	0	5	0	4	0	2	1	2	3	2	1	3	10			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:81648086C>G	ENST00000558726.1	-	9	1050	c.915G>C	c.(913-915)gaG>gaC	p.E305D	TMC3_ENST00000359440.5_Missense_Mutation_p.E305D|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	305						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTTTCTTTTTCTCCTGTTCTT	0.284													14	44					0	0	0	0	G	81648086	C	G	81648086	3	3	296	1	0	0	0	0	1	0	0	0	16080	912	32	2	2443	2	TMC3	15	81648086	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	417916	81648086	20883306	180	53040											
ALDH1A3	220	broad.mit.edu	37	chr15	101447334	101447334	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattaatcatagattttcggGccagtgcaaccaatactgaa	15	11	7	8	1	1	2	1	1	0	1	2	2	1	2	2	1	3	1	2	1	7	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:101447334G>T	ENST00000329841.5	+	11	1774	c.1242G>T	c.(1240-1242)ggG>ggT	p.G414G	ALDH1A3_ENST00000346623.6_Silent_p.G307G|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	414					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	AGATTTTCGGGCCAGTGCAAC	0.398													10	42					0.000442599	0.00156013	1	0	T	101447334	G	T	101447334	2	4	296	1	0	0	0	0	0	0	0	1	492	1190	42	4		4	ALDH1A3	15	101447334	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	19799248	101447334	1084058	181	53041											
ALDH1A3	220	broad.mit.edu	37	chr15	101448628	101448628	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaggatcaactgctacaaCgccctctatgcacaggctcc	10	9	7	15	1	3	0	1	0	2	0	4	1	4	1	2	2	5	3	2	2	5	3	rs145659258		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:101448628C>T	ENST00000329841.5	+	12	1939	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	ALDH1A3_ENST00000346623.6_Silent_p.N362N|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	469					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ACTGCTACAACGCCCTCTATG	0.512													10	37					0	0	0	0	T	101448628	C	T	101448628	2	4	296	1	0	0	0	0	0	0	0	1	492	535	19	1		1	ALDH1A3	15	101448628	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1294	101448628	1082764	182	53042											
STUB1	10273	broad.mit.edu	37	chr16	732456	732456	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaggttattgacgcattCatctctgagaatggctgggt	10	12	13	6	1	2	2	1	2	1	1	3	4	2	3	0	4	0	3	0	4	3	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:732456C>T	ENST00000565677.1	+	7	1270	c.663C>T	c.(661-663)ttC>ttT	p.F221F	STUB1_ENST00000219548.4_Silent_p.F293F|JMJD8_ENST00000412368.2_3'UTR|JMJD8_ENST00000293882.4_3'UTR|JMJD8_ENST00000454700.1_3'UTR|LA16c-313D11.11_ENST00000565813.1_RNA|STUB1_ENST00000564370.1_Silent_p.F221F|LA16c-313D11.10_ENST00000567405.2_RNA			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	293					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				TTGACGCATTCATCTCTGAGA	0.607													26	108					0	0	0	0	T	732456	C	T	732456	2	4	296	1	0	0	0	0	0	0	0	1	15425	825	29	2		2	STUB1	16	732456	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08		732456	89622297	183	53043											
JMJD8	339123	broad.mit.edu	37	chr16	733066	733066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggaactctggcgtcttctCaggtgggtaaaggaaccagc	9	9	14	9	1	3	0	1	0	3	0	4	2	3	2	1	5	3	1	1	5	4	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:733066C>T	ENST00000293882.4	-	8	810	c.811G>A	c.(811-813)Gag>Aag	p.E271K	JMJD8_ENST00000412368.2_Missense_Mutation_p.E222K|JMJD8_ENST00000454700.1_Missense_Mutation_p.E241K|JMJD8_ENST00000562111.1_Intron|JMJD8_ENST00000562824.1_Missense_Mutation_p.E171K			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	271	JmjC.									breast(1)	1						GGCGTCTTCTCAGGTGGGTAA	0.637													28	89					0	0	0	0	T	733066	C	T	733066	3	4	296	1	0	0	0	0	1	0	0	0	8009	835	29	2	201	2	JMJD8	16	733066	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	610	733066	89621687	184	53044											
TMEM159	57146	broad.mit.edu	37	chr16	21181823	21181823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccgtttctggccttcacCttgctggtgttcattgtcat	4	17	8	12	1	4	0	3	0	1	0	5	0	5	0	3	2	1	3	3	2	0	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:21181823C>T	ENST00000233047.4	+	3	630	c.162C>T	c.(160-162)acC>acT	p.T54T	TMEM159_ENST00000261388.3_Silent_p.T54T|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572599.1_Silent_p.T54T|TMEM159_ENST00000572258.1_Silent_p.T54T|TMEM159_ENST00000451578.2_Silent_p.T78T			Q96B96	TM159_HUMAN	transmembrane protein 159	54						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		TGGCCTTCACCTTGCTGGTGT	0.522													38	124					0	0	0	0	T	21181823	C	T	21181823	2	4	296	1	0	0	0	0	0	0	0	1	16168	668	24	4		4	TMEM159	16	21181823	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	20448757	21181823	69172930	185	53045											
ANKS4B	257629	broad.mit.edu	37	chr16	21262063	21262063	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaatgcagctgggtcccagGaagaaagttctgaatgctat	13	9	11	8	0	1	2	0	1	1	1	2	3	2	3	1	2	3	4	1	2	5	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:21262063G>A	ENST00000311620.5	+	2	1249	c.1176G>A	c.(1174-1176)agG>agA	p.R392R		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	392	SAM.									NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGGGTCCCAGGAAGAAAGTTC	0.512													26	99					0	0	0	0	A	21262063	G	A	21262063	2	1	296	1	0	0	0	0	0	0	0	1	690	1165	41	2		2	ANKS4B	16	21262063	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	80240	21262063	69092690	186	53046											
ZNF48	197407	broad.mit.edu	37	chr16	30409298	30409298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcaccagcggacacacCggggggagcagcccccccga	10	1	13	17	3	1	0	1	0	0	0	1	3	1	2	5	4	4	2	5	4	1	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:30409298C>T	ENST00000320159.2	+	2	1103	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R243W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GCGGACACACCGGGGGGAGCA	0.647													10	61					0	0	0	0	T	30409298	C	T	30409298	3	4	296	1	0	0	0	0	1	0	0	0	18029	643	23	1	733	1	ZNF48	16	30409298	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	9147235	30409298	59945455	187	53047											
ZNF629	23361	broad.mit.edu	37	chr16	30793311	30793311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgggtgagggccacgcGgtcgaggaaggaggccctgc	6	4	20	11	4	0	1	0	1	0	0	1	4	0	3	3	6	2	0	3	6	1	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:30793311G>A	ENST00000262525.4	-	3	2545	c.2338C>T	c.(2338-2340)Cgc>Tgc	p.R780C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	780					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGGGCCACGCGGTCGAGGAAG	0.647													44	145					0	0	0	0	A	30793311	G	A	30793311	3	1	296	1	0	0	0	0	1	0	0	0	18148	1116	39	1	275	1	ZNF629	16	30793311	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	384013	30793311	59561442	188	53048											
SALL1	6299	broad.mit.edu	37	chr16	51171359	51171359	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccttctggaacatttctggGaacttgacgggattgcctcc	7	13	10	11	1	2	1	0	1	2	0	4	4	4	4	3	3	3	0	3	3	2	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:51171359G>A	ENST00000440970.1	-	3	3779	c.3348C>T	c.(3346-3348)ttC>ttT	p.F1116F	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Silent_p.F36F|SALL1_ENST00000251020.4_Silent_p.F1213F	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1213					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACATTTCTGGGAACTTGACGG	0.567													13	48					0	0	0	0	A	51171359	G	A	51171359	2	1	296	1	0	0	0	0	0	0	0	1	13895	1165	41	2		2	SALL1	16	51171359	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	20378048	51171359	39183394	189	53049											
TOX3	27324	broad.mit.edu	37	chr16	52484290	52484290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgtgaggcatactggCacctcccaaattcaacccca	12	8	8	13	0	1	2	1	1	0	1	2	2	2	2	4	2	2	2	4	2	3	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:52484290C>T	ENST00000219746.9	-	4	861	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	TOX3_ENST00000407228.3_Missense_Mutation_p.A188T	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	193					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGCATACTGGCACCTCCCAAA	0.567													36	122					0	0	0	0	T	52484290	C	T	52484290	3	4	296	1	0	0	0	0	1	0	0	0	16474	710	25	4	1169	4	TOX3	16	52484290	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1312931	52484290	37870463	190	53050											
CDH3	1001	broad.mit.edu	37	chr16	68721545	68721545	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcgccaggtgctgaacatCacggacaaggacctgtctcc	9	7	12	13	2	2	1	1	1	1	0	3	3	2	3	3	3	3	1	3	3	2	0	rs140790125	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:68721545C>T	ENST00000264012.4	+	12	2245	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	CDH3_ENST00000429102.2_Silent_p.I567I|CDH3_ENST00000581171.1_Silent_p.I512I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	567	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGCTGAACATCACGGACAAGG	0.562													25	70					0	0	0	0	T	68721545	C	T	68721545	2	4	296	1	0	0	0	0	0	0	0	1	3140	816	29	2		2	CDH3	16	68721545	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	16237255	68721545	21633208	191	53051											
MLKL	197259	broad.mit.edu	37	chr16	74719469	74719469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatctccttattgaaagtCtgcctcactattctataagg	10	16	6	9	0	4	2	1	2	3	0	5	2	4	2	2	1	1	0	2	1	5	7			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:74719469C>G	ENST00000308807.7	-	5	1198	c.735G>C	c.(733-735)caG>caC	p.Q245H	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	245	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TATTGAAAGTCTGCCTCACTA	0.398													3	23					0	0	0	0	G	74719469	C	G	74719469	3	3	296	1	0	0	0	0	1	0	0	0	9688	912	32	2	739	2	MLKL	16	74719469	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	5997924	74719469	15635284	192	53052											
JPH3	57338	broad.mit.edu	37	chr16	87636924	87636924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctacacctggcccagcGgcaacacgtaccagggcacc	9	4	11	17	3	1	0	0	0	1	0	1	0	1	0	4	3	4	3	4	3	3	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:87636924G>A	ENST00000284262.2	+	1	414	c.172G>A	c.(172-174)Ggc>Agc	p.G58S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	58	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CTGGCCCAGCGGCAACACGTA	0.682													9	27					0	0	0	0	A	87636924	G	A	87636924	3	1	296	1	0	0	0	0	1	0	0	0	8015	1116	39	1	174	1	JPH3	16	87636924	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	12917455	87636924	2717829	193	53053											
ABR	29	broad.mit.edu	37	chr17	961286	961286	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagtaggaacaggtaactCtgaagagaggagataagcat	17	6	13	5	0	1	3	0	1	1	2	1	7	1	4	0	3	3	3	0	3	5	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:961286C>T	ENST00000544583.2	-	12	1767		c.e12-1		ABR_ENST00000536794.2_Splice_Site|ABR_ENST00000302538.5_Splice_Site|ABR_ENST00000573895.1_5'UTR|ABR_ENST00000291107.2_Splice_Site|ABR_ENST00000574437.1_Splice_Site	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACAGGTAACTCTGAAGAGAGG	0.468													9	30					0	0	0	0	T	961286	C	T	961286	5	4	296	1	0	0	0	0	0	0	1	0	99	927	32	2	1322	2	ABR	17	961286	Splice_Site	SNP	C	TCGA-CV-7252-01A-11D-2012-08		961286	80233924	194	53054											
SMYD4	114826	broad.mit.edu	37	chr17	1704088	1704088	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttctgtgagactgtccttTtcttgcatcttcattttcag	5	20	6	10	0	5	1	2	1	3	1	6	2	6	1	1	0	1	1	1	0	0	7			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:1704088T>C	ENST00000305513.7	-	5	767	c.600A>G	c.(598-600)gaA>gaG	p.E200E		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	200							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GACTGTCCTTTTCTTGCATCT	0.498													48	164					0	0	0	0	C	1704088	T	C	1704088	2	2	296	1	0	0	0	0	0	0	0	1	14912	1838	64	5		5	SMYD4	17	1704088	Silent	SNP	T	TCGA-CV-7252-01A-11D-2012-08	742802	1704088	79491122	195	53055											
XAF1	54739	broad.mit.edu	37	chr17	6665481	6665481	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttattcaggggaaagAatttcagctcctgaaaggga	12	11	11	7	0	3	2	2	1	1	1	4	4	4	4	1	3	2	2	1	3	4	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:6665481A>G	ENST00000361842.3	+	5	668	c.429A>G	c.(427-429)agA>agG	p.R143R	XAF1_ENST00000346752.4_Silent_p.R124R|XAF1_ENST00000441631.1_Silent_p.R143R	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	143					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CAGGGGAAAGAATTTCAGCTC	0.413													9	21					0	0	0	0	G	6665481	A	G	6665481	2	3	296	1	0	0	0	0	0	0	0	1	17515	243	9	5		5	XAF1	17	6665481	Silent	SNP	A	TCGA-CV-7252-01A-11D-2012-08	4961393	6665481	74529729	196	53056											
TP53	7157	broad.mit.edu	37	chr17	7578267	7578268	+	Frame_Shift_Ins	INS	-	-	AG																															aatttccttccactcggataINSagatgctgaggaggggccag																										TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:7578267_7578268insAG	ENST00000420246.2	-	6	713_714	c.581_582insCT	c.(580-582)catfs	p.H194fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Ins_p.H194fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.H194fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.H194fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.H194fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.H194fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.L194L(4)|p.I195fs*52(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.I102fs*52(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.I63fs*>28(1)|p.L62H(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCACTCGGATAAGATGCTGAGG	0.554		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	47	---	---	---	---					AG	7578268	-	AG	7578267	7	5	296	1	0	1	1	0	0	0	0	0	16476	349	13	0	712	0	TP53	17	7578267	Frame_Shift_Ins	INS	-	TCGA-CV-7252-01A-11D-2012-08	912786	7578267	73616943	197	53057											
TP53	7157	broad.mit.edu	37	chr17	7579533	7579533	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcttcagtgaaccattGttcaatatcgtccggggaca	9	12	11	9	2	3	1	2	1	1	0	5	2	4	2	2	3	1	1	2	3	3	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:7579533G>A	ENST00000420246.2	-	4	286	c.154C>T	c.(154-156)Caa>Taa	p.Q52*	TP53_ENST00000269305.4_Nonsense_Mutation_p.Q52*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q52*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q52*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	52	Interaction with HRMT1L2.		Q -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q52*(12)|p.0?(8)|p.Q52>P*(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGAACCATTGTTCAATATCG	0.592		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			67	183					0	0	0	0	A	7579533	G	A	7579533	4	1	296	1	0	0	0	0	0	1	0	0	16476	1386	48	4	1148	4	TP53	17	7579533	Nonsense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	1266	7579533	73615677	198	53058											
MYH4	4622	broad.mit.edu	37	chr17	10348460	10348460	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctcagccatcatggCagcctagttagcaaataaat	13	9	7	12	0	2	0	2	0	0	0	3	0	3	0	3	1	4	4	3	1	5	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:10348460C>A	ENST00000255381.2	-	37	5409	c.5299G>T	c.(5299-5301)Gcc>Tcc	p.A1767S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1767					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCATCATGGCAGCCTAGTTA	0.473													53	159					3.4597e-24	1.37481e-23	1	0	A	10348460	C	A	10348460	3	1	296	1	0	0	0	0	1	0	0	0	10107	710	25	4	536	4	MYH4	17	10348460	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	2768927	10348460	70846750	199	53059											
NCOR1	9611	broad.mit.edu	37	chr17	15964844	15964844	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttccctctggtccttagctCttcctcatatctggattttg	4	18	6	13	0	4	0	1	0	3	0	7	1	7	1	3	2	1	1	3	2	2	6			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:15964844C>G	ENST00000268712.3	-	37	6009	c.5752G>C	c.(5752-5754)Gag>Cag	p.E1918Q	NCOR1_ENST00000395857.3_Missense_Mutation_p.E502Q|NCOR1_ENST00000395851.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1918	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCCTTAGCTCTTCCTCATAT	0.498													59	192					0	0	0	0	G	15964844	C	G	15964844	3	3	296	1	0	0	0	0	1	0	0	0	10305	922	32	2	1610	2	NCOR1	17	15964844	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	5616384	15964844	65230366	200	53060											
RAI1	10743	broad.mit.edu	37	chr17	17700989	17700989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcagagcctgaaatccGcctcaagtacatttcctctt	9	11	6	15	2	2	2	1	1	1	1	5	2	5	2	5	0	2	2	5	0	3	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:17700989G>A	ENST00000353383.1	+	3	5196	c.4727G>A	c.(4726-4728)cGc>cAc	p.R1576H	RAI1_ENST00000261641.6_Missense_Mutation_p.R1576H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1576						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTGAAATCCGCCTCAAGTAC	0.637													33	104					0	0	0	0	A	17700989	G	A	17700989	3	1	296	1	0	0	0	0	1	0	0	0	13089	1087	38	1	4729	1	RAI1	17	17700989	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	1736145	17700989	63494221	201	53061											
UNC119	9094	broad.mit.edu	37	chr17	26874665	26874665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctctagacgcccccacttCcccactcccagaagaccctg	8	7	6	20	1	1	3	0	0	1	3	4	3	3	3	6	0	0	0	6	0	2	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:26874665C>T	ENST00000470125.1	-	3	1113	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	UNC119_ENST00000484980.1_Intron|UNC119_ENST00000301032.4_Missense_Mutation_p.E214K|UNC119_ENST00000335765.4_Intron			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	0					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GCCCCCACTTCCCCACTCCCA	0.612													13	29					0	0	0	0	T	26874665	C	T	26874665	3	4	296	1	0	0	0	0	1	0	0	0	17078	864	30	2	143	2	UNC119	17	26874665	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	9173676	26874665	54320545	202	53062											
CPD	1362	broad.mit.edu	37	chr17	28706100	28706100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggcccgggcggctcacatCaagaaggcggaggcgactac	9	4	15	13	5	2	1	2	0	0	1	3	3	2	2	1	6	1	1	1	6	3	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:28706100C>G	ENST00000225719.4	+	1	178	c.102C>G	c.(100-102)atC>atG	p.I34M		NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	34	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CGGCTCACATCAAGAAGGCGG	0.706													3	5					0	0	0	0	G	28706100	C	G	28706100	3	3	296	1	0	0	0	0	1	0	0	0	3828	816	29	2	104	2	CPD	17	28706100	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1831435	28706100	52489110	203	53063											
NEUROD2	4761	broad.mit.edu	37	chr17	37761719	37761719	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtctcagttatgaaaaaaCgcattgagctcctcgtacat	14	11	7	9	2	1	2	1	2	1	0	4	2	2	2	1	0	3	4	1	0	6	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:37761719C>A	ENST00000302584.4	-	2	1354	c.1134G>T	c.(1132-1134)gcG>gcT	p.A378A		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	378					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			TATGAAAAAACGCATTGAGCT	0.612													6	15					0.00198382	0.00694664	1	0	A	37761719	C	A	37761719	2	1	296	1	0	0	0	0	0	0	0	1	10419	523	19	3		3	NEUROD2	17	37761719	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	9055619	37761719	43433491	204	53064											
THRA	7067	broad.mit.edu	37	chr17	38245491	38245491	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgctgtgtgtggacaagatcGagaagagtcaggaggcgtac	11	8	16	6	2	1	3	1	0	0	3	2	6	1	5	0	3	2	2	0	3	3	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:38245491G>C	ENST00000450525.2	+	9	1506	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q	THRA_ENST00000584985.1_Missense_Mutation_p.E339Q|THRA_ENST00000394121.4_Missense_Mutation_p.E339Q|THRA_ENST00000264637.4_Missense_Mutation_p.E339Q|THRA_ENST00000546243.1_Missense_Mutation_p.E339Q	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	339	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GGACAAGATCGAGAAGAGTCA	0.622													23	116					0	0	0	0	C	38245491	G	C	38245491	3	2	296	1	0	0	0	0	1	0	0	0	15967	1059	37	3	1045	3	THRA	17	38245491	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	483772	38245491	42949719	205	53065											
PSME3	10197	broad.mit.edu	37	chr17	40986892	40986892	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagccatgatggactggatgGtgtaagtgtcctatatttat	10	15	11	5	0	0	1	0	1	0	0	1	3	1	3	2	3	1	1	2	3	5	6			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:40986892G>A	ENST00000293362.3	+	4	403	c.243_splice	c.e4+1	p.G81_splice	PSME3_ENST00000441946.2_Splice_Site_p.G92_splice|PSME3_ENST00000545225.1_Splice_Site_p.G20_splice|PSME3_ENST00000590720.1_Splice_Site_p.G81_splice|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000541124.1_3'UTR	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	81					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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 proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGACTGGATGGTGTAAGTGTC	0.443													14	50					0	0	0	0	A	40986892	G	A	40986892	5	1	296	1	0	0	0	0	0	0	1	0	12787	1275	44	4	256	4	PSME3	17	40986892	Splice_Site	SNP	G	TCGA-CV-7252-01A-11D-2012-08	2741401	40986892	40208318	206	53066											
AOC3	8639	broad.mit.edu	37	chr17	41006513	41006513	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggtctttgtccccatggCtgtgccctggagccctgagc	4	12	12	13	0	1	1	0	1	1	0	2	2	2	2	4	3	3	1	4	3	1	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:41006513C>A	ENST00000308423.2	+	2	1809	c.1649C>A	c.(1648-1650)gCt>gAt	p.A550D	AOC3_ENST00000591562.1_Missense_Mutation_p.A7D	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	550					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GTCCCCATGGCTGTGCCCTGG	0.662													17	48					8.00594e-06	2.89908e-05	1	0	A	41006513	C	A	41006513	3	1	296	1	0	0	0	0	1	0	0	0	729	797	28	4	1655	4	AOC3	17	41006513	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	19621	41006513	40188697	207	53067											
EMILIN2	84034	broad.mit.edu	37	chr18	2891362	2891362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcaacagatcaagacattgGaccagaaaatcgagagagtt	17	7	10	7	1	2	4	2	0	0	4	3	7	2	5	1	1	1	1	1	1	4	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr18:2891362G>A	ENST00000254528.3	+	4	1396	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	413					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAAGACATTGGACCAGAAAAT	0.473													9	45					0	0	0	0	A	2891362	G	A	2891362	3	1	296	1	0	0	0	0	1	0	0	0	5132	1174	41	2	1251	2	EMILIN2	18	2891362	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08		2891362	75185886	208	53068											
WDR7	23335	broad.mit.edu	37	chr18	54423844	54423844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaatattctcataactccCtgatggttcaagcaataaag	15	12	5	9	0	2	1	2	1	1	0	4	1	3	1	1	1	2	2	1	1	8	6			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr18:54423844C>T	ENST00000254442.3	+	15	2231	c.2020C>T	c.(2020-2022)Ctg>Ttg	p.L674L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.L674L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	674										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCATAACTCCCTGATGGTTCA	0.308													16	64					0	0	0	0	T	54423844	C	T	54423844	2	4	296	1	0	0	0	0	0	0	0	1	17416	680	24	4		4	WDR7	18	54423844	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	51532482	54423844	23653404	209	53069											
PIAS4	51588	broad.mit.edu	37	chr19	4037462	4037462	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgatccgcgccgaaaaGgagcgcagctgcagcccgca	9	3	13	16	6	0	0	0	0	0	0	1	3	1	1	4	1	5	4	4	1	2	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:4037462G>A	ENST00000262971.2	+	10	1348	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	411					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCGAAAAGGAGCGCAGCT	0.687													8	31					0	0	0	0	A	4037462	G	A	4037462	2	1	296	1	0	0	0	0	0	0	0	1	11950	991	35	4		4	PIAS4	19	4037462	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08		4037462	55091521	210	53070											
CD209	30835	broad.mit.edu	37	chr19	7809868	7809868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgacgagctgggcccccaCttctttgcaggcggtgatgg	6	9	14	12	3	1	1	0	1	1	0	1	3	1	1	2	4	3	2	2	4	1	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:7809868C>T	ENST00000315599.7	-	5	881	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.V126M|CD209_ENST00000315591.8_Missense_Mutation_p.V263M|CD209_ENST00000602261.1_Missense_Mutation_p.V195M|CD209_ENST00000601951.1_Missense_Mutation_p.V263M|CD209_ENST00000601256.1_Missense_Mutation_p.V263M|CD209_ENST00000301357.8_Missense_Mutation_p.V151M|CD209_ENST00000204801.8_Missense_Mutation_p.V243M|CD209_ENST00000354397.6_Missense_Mutation_p.V287M|CD209_ENST00000593821.1_Missense_Mutation_p.V151M|CD209_ENST00000593660.1_Missense_Mutation_p.V217M	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	287	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGGGCCCCCACTTCTTTGCAG	0.587													17	80					0	0	0	0	T	7809868	C	T	7809868	3	4	296	1	0	0	0	0	1	0	0	0	3013	565	20	4	367	4	CD209	19	7809868	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	3772406	7809868	51319115	211	53071											
MUC16	94025	broad.mit.edu	37	chr19	9061995	9061995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgattctgtcataatggggGaagtagaaagcctggtgatc	11	11	13	6	0	2	3	1	2	1	1	3	4	2	4	1	3	1	1	1	3	4	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:9061995G>A	ENST00000397910.4	-	3	25654	c.25451C>T	c.(25450-25452)tCc>tTc	p.S8484F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8486	Ser-rich.|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						CATAATGGGGGAAGTAGAAAG	0.488													70	205					0	0	0	0	A	9061995	G	A	9061995	3	1	296	1	0	0	0	0	1	0	0	0	10043	1174	41	2	18400	2	MUC16	19	9061995	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	1252127	9061995	50066988	212	53072											
RAVER1	125950	broad.mit.edu	37	chr19	10444126	10444126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcatcgccggcttcgacttCggccccagacttagggctca	6	8	12	15	4	1	1	1	0	0	1	4	2	1	1	3	4	0	3	3	4	1	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:10444126C>T	ENST00000293677.6	-	1	190	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	20						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GCTTCGACTTCGGCCCCAGAC	0.692													26	50					0	0	0	0	T	10444126	C	T	10444126	3	4	296	1	0	0	0	0	1	0	0	0	13176	893	31	1	2213	1	RAVER1	19	10444126	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1382131	10444126	48684857	213	53073											
YIPF2	78992	broad.mit.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-																															gctgaaggtccagaatcccgGctgctgctgctgctgctgct																										TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)ccg>c	p.QP74del	YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621													8	66	---	---	---	---					-	11038364	GCT	-	11038362	7	5	296	1	0	1	0	1	0	0	0	0	17574	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-CV-7252-01A-11D-2012-08	594236	11038362	48090621	214	53074											
ZNF442	79973	broad.mit.edu	37	chr19	12474424	12474424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaagagatcacttctgtCttctcccccaaatacaatca	14	10	5	12	0	5	1	2	0	3	1	6	3	5	2	2	1	1	0	2	1	5	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:12474424C>G	ENST00000242804.4	-	3	604	c.22G>C	c.(22-24)Gac>Cac	p.D8H	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCACTTCTGTCTTCTCCCCCA	0.473													22	99					0	0	0	0	G	12474424	C	G	12474424	3	3	296	1	0	0	0	0	1	0	0	0	18010	913	32	2	1877	2	ZNF442	19	12474424	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1436062	12474424	46654559	215	53075											
ZSWIM4	65249	broad.mit.edu	37	chr19	13928082	13928082	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacaccgaaggatgggtgggGcaccccctggaccccattgg	9	5	14	13	1	0	0	0	0	0	0	0	3	0	2	5	6	1	1	5	6	2	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:13928082G>A	ENST00000254323.2	+	7	1422	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	ZSWIM4_ENST00000440752.2_Silent_p.G245G	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	411							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GATGGGTGGGGCACCCCCTGG	0.622													29	72					0	0	0	0	A	13928082	G	A	13928082	2	1	296	1	0	0	0	0	0	0	0	1	18334	1190	42	4		4	ZSWIM4	19	13928082	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	1453658	13928082	45200901	216	53076											
GMIP	51291	broad.mit.edu	37	chr19	19744918	19744929	+	In_Frame_Del	DEL	CGGCGGCCGCAG	CGGCGGCCGCAG	-																															ctggctgcccgcgggccgtcCggcggccgcagcagtgtcgg																								rs146830752	by1000genomes	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:19744918_19744929delCGGCGGCCGCAG	ENST00000203556.4	-	19	2292_2303	c.2155_2166delCTGCGGCCGCCG	c.(2155-2166)del	p.LRPP719del	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_In_Frame_Del_p.LRPP690del|GMIP_ENST00000587238.1_In_Frame_Del_p.LRPP693del	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	719	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCGGGCCGTCCGGCGGCCGCAGCAGTGTCGGC	0.613													9	68	---	---	---	---					-	19744929	CGGCGGCCGCAG	-	19744918	7	5	296	1	0	1	0	1	0	0	0	0	6542	639	23	0	758	0	GMIP	19	19744918	In_Frame_Del	DEL	CGGCGGCCGCAG	TCGA-CV-7252-01A-11D-2012-08	5816836	19744918	39384065	217	53077											
FCGBP	8857	broad.mit.edu	37	chr19	40368526	40368526	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagaagccagggccctcGtactgctccaaccggtcctc	7	6	10	18	3	0	1	0	0	0	1	4	1	2	1	6	2	4	3	6	2	3	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:40368526G>A	ENST00000221347.6	-	28	12829	c.12822C>T	c.(12820-12822)taC>taT	p.Y4274Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4274	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGGCCCTCGTACTGCTCCA	0.657													6	80					0	0	0	0	A	40368526	G	A	40368526	2	1	296	1	0	0	0	0	0	0	0	1	5823	1140	40	1		1	FCGBP	19	40368526	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	20623608	40368526	18760457	218	53078											
MAP3K10	4294	broad.mit.edu	37	chr19	40704316	40704316	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccatcgagaaccacaacctCgcagacacggtgctcaagat	13	5	9	14	3	1	3	1	0	0	3	3	4	1	3	3	1	3	2	3	1	3	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:40704316C>T	ENST00000253055.3	+	2	1005	c.717C>T	c.(715-717)ctC>ctT	p.L239L	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	239	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACCACAACCTCGCAGACACGG	0.647													14	44					0	0	0	0	T	40704316	C	T	40704316	2	4	296	1	0	0	0	0	0	0	0	1	9313	871	31	1		1	MAP3K10	19	40704316	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	335790	40704316	18424667	219	53079											
AKT2	208	broad.mit.edu	37	chr19	40739814	40739814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccgagtaggagaactgggGgaagtgggtccgctggtcca	8	6	19	8	2	0	1	0	0	0	1	2	4	2	2	3	6	1	2	3	6	3	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:40739814G>A	ENST00000392038.2	-	14	1709	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S	AKT2_ENST00000424901.1_Missense_Mutation_p.P471S|AKT2_ENST00000311278.6_Missense_Mutation_p.P428S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	471	AGC-kinase C-terminal.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GAGAACTGGGGGAAGTGGGTC	0.642			A		"ovarian, pancreatic "								10	26					0	0	0	0	A	40739814	G	A	40739814	3	1	296	1	0	0	0	0	1	0	0	0	480	1232	43	4	38	4	AKT2	19	40739814	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	35498	40739814	18389169	220	53080											
ZNF224	7767	broad.mit.edu	37	chr19	44611712	44611712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtgggaagagctttagtCgggccccatgtcttttgaaa	10	12	12	7	1	1	2	0	1	1	1	2	3	1	3	2	2	1	1	2	2	4	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:44611712C>T	ENST00000336976.6	+	6	1653	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	467					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GAGCTTTAGTCGGGCCCCATG	0.438													19	62					0	0	0	0	T	44611712	C	T	44611712	3	4	296	1	0	0	0	0	1	0	0	0	17873	875	31	1	1413	1	ZNF224	19	44611712	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	3871898	44611712	14517271	221	53081											
NOVA2	4858	broad.mit.edu	37	chr19	46443312	46443312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtcagctcctggtactccaCcaacgtcttgccccccttcc	5	10	6	20	2	2	0	1	0	1	0	5	0	5	0	7	1	4	2	7	1	2	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:46443312C>T	ENST00000263257.5	-	4	1482	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	430	KH 3.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TGGTACTCCACCAACGTCTTG	0.662													43	124					0	0	0	0	T	46443312	C	T	46443312	3	4	296	1	0	0	0	0	1	0	0	0	10625	507	18	4	194	4	NOVA2	19	46443312	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1831600	46443312	12685671	222	53082											
AKT1S1	84335	broad.mit.edu	37	chr19	50374957	50374957	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggccggcgggggtctcCtcgctcaggctgccatctga	3	7	18	13	3	3	1	1	1	2	0	5	1	3	1	3	7	1	2	3	7	0	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:50374957C>T	ENST00000391833.1	-	3	2463	c.474G>A	c.(472-474)gaG>gaA	p.E158E	AKT1S1_ENST00000391832.3_Silent_p.E158E|AKT1S1_ENST00000391835.1_Silent_p.E178E|AKT1S1_ENST00000391834.2_Silent_p.E158E|AKT1S1_ENST00000391831.1_Silent_p.E158E|AKT1S1_ENST00000344175.5_Silent_p.E158E	NM_001278160.1	NP_001265089.1	Q96B36	AKTS1_HUMAN	AKT1 substrate 1 (proline-rich)	158					negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CGGGGGTCTCCTCGCTCAGGC	0.667													26	72					0	0	0	0	T	50374957	C	T	50374957	2	4	296	1	0	0	0	0	0	0	0	1	479	680	24	4		4	AKT1S1	19	50374957	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	3931645	50374957	8754026	223	53083											
SHANK1	50944	broad.mit.edu	37	chr19	51192464	51192464	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcactcacccttggccccCcggagcacgaacccaaaccc	9	4	8	20	2	1	0	1	0	0	0	1	2	1	1	6	3	3	2	6	3	2	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:51192464C>T	ENST00000293441.1	-	15	2055	c.2037G>A	c.(2035-2037)cgG>cgA	p.R679R	SHANK1_ENST00000359082.3_Silent_p.R670R|SHANK1_ENST00000391813.1_Silent_p.R66R|SHANK1_ENST00000391814.1_Silent_p.R679R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	679	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCTTGGCCCCCCGGAGCACGA	0.612													11	94					0	0	0	0	T	51192464	C	T	51192464	2	4	296	1	0	0	0	0	0	0	0	1	14352	610	22	4		4	SHANK1	19	51192464	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	817507	51192464	7936519	224	53084											
TMC4	147798	broad.mit.edu	37	chr19	54664964	54664964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggaggcccggaaggtgcGggcagccggggagcaggtgg	6	2	23	10	5	0	0	0	0	0	0	0	3	0	3	2	9	3	2	2	9	1	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:54664964G>A	ENST00000376591.4	-	12	1869	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C	TMC4_ENST00000301187.4_Missense_Mutation_p.R574C|TMC4_ENST00000416963.1_Missense_Mutation_p.R162C	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	580						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGGAAGGTGCGGGCAGCCGGG	0.562													8	19					0	0	0	0	A	54664964	G	A	54664964	3	1	296	1	0	0	0	0	1	0	0	0	16081	1116	39	1	416	1	TMC4	19	54664964	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	3472500	54664964	4464019	225	53085											
ZNF211	10520	broad.mit.edu	37	chr19	58152875	58152875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcacactggagaaaggcctTatgaatgtggggaatgtggg	11	10	15	5	0	1	2	1	1	0	1	1	4	1	3	1	5	0	0	1	5	4	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:58152875T>C	ENST00000544273.1	+	5	1384	c.1057T>C	c.(1057-1059)Tat>Cat	p.Y353H	ZNF211_ENST00000240731.4_Missense_Mutation_p.Y354H|ZNF211_ENST00000391703.3_Missense_Mutation_p.Y280H|ZNF211_ENST00000254182.7_Missense_Mutation_p.Y332H|ZNF211_ENST00000347302.3_Missense_Mutation_p.Y341H|ZNF211_ENST00000299871.5_Missense_Mutation_p.Y406H|ZNF211_ENST00000541801.1_Missense_Mutation_p.Y332H|ZNF211_ENST00000420680.1_Missense_Mutation_p.Y345H			Q13398	ZN211_HUMAN	zinc finger protein 211	341						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAAAGGCCTTATGAATGTGG	0.463													17	56					0	0	0	0	C	58152875	T	C	58152875	3	2	296	1	0	0	0	0	1	0	0	0	17862	1754	61	5	1074	5	ZNF211	19	58152875	Missense_Mutation	SNP	T	TCGA-CV-7252-01A-11D-2012-08	3487911	58152875	976108	226	53086											
NSFL1C	55968	broad.mit.edu	37	chr20	1433208	1433208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcacaaagtcctcgtcccGatggtcctccatatccaagt	9	11	6	15	2	1	0	1	0	0	0	7	1	6	0	5	1	0	0	5	1	3	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:1433208G>A	ENST00000216879.4	-	7	1582	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	NSFL1C_ENST00000476071.1_Missense_Mutation_p.R241W|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R241W|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R128W|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R208W	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	239	SEP.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCCTCGTCCCGATGGTCCTCC	0.572													55	144					0	0	0	0	A	1433208	G	A	1433208	3	1	296	1	0	0	0	0	1	0	0	0	10743	1057	37	1	409	1	NSFL1C	20	1433208	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08		1433208	61592312	227	53087											
SIRPA	140885	broad.mit.edu	37	chr20	1895762	1895762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggagtggcgggtgaggagGagctgcaggtgattcagcct	8	7	19	7	1	1	2	1	2	0	0	1	5	1	5	1	6	3	2	1	6	0	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:1895762G>A	ENST00000358771.4	+	2	249	c.97G>A	c.(97-99)Gag>Aag	p.E33K	SIRPA_ENST00000400068.3_Missense_Mutation_p.E33K|SIRPA_ENST00000356025.3_Missense_Mutation_p.E33K	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	33	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGGTGAGGAGGAGCTGCAGGT	0.527													11	15					0	0	0	0	A	1895762	G	A	1895762	3	1	296	1	0	0	0	0	1	0	0	0	14420	1175	41	2	103	2	SIRPA	20	1895762	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	462554	1895762	61129758	228	53088											
CST1	1469	broad.mit.edu	37	chr20	23731395	23731395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactcatcattgaggtctgCgttatagatgccacccggga	9	10	10	12	2	3	2	2	1	1	1	3	3	3	3	3	2	2	1	3	2	2	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:23731395C>T	ENST00000304749.2	-	1	179	c.109G>A	c.(109-111)Gca>Aca	p.A37T	CST1_ENST00000398402.1_Missense_Mutation_p.A37T	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	37						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TTGAGGTCTGCGTTATAGATG	0.572													10	50					0	0	0	0	T	23731395	C	T	23731395	3	4	296	1	0	0	0	0	1	0	0	0	4002	768	27	1	328	1	CST1	20	23731395	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	21835633	23731395	39294125	229	53089											
DLGAP4	22839	broad.mit.edu	37	chr20	35075135	35075135	+	Frame_Shift_Del	DEL	G	G	-																															ctgagtgaccagtatgaggcGgcctgcgagtcagcctgcag																								rs112014857		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:35075135delG	ENST00000373913.3	+	7	1923	c.1443delG	c.(1441-1443)gcfs	p.A482fs	DLGAP4_ENST00000373907.2_Frame_Shift_Del_p.A482fs|DLGAP4_ENST00000401952.2_Frame_Shift_Del_p.A482fs|DLGAP4_ENST00000339266.5_Frame_Shift_Del_p.A482fs			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	482					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGTATGAGGCGGCCTGCGAGT	0.632													11	26	---	---	---	---					-	35075135	G	-	35075135	7	5	296	1	0	1	0	1	0	0	0	0	4599	1103	39	0	1461	0	DLGAP4	20	35075135	Frame_Shift_Del	DEL	G	TCGA-CV-7252-01A-11D-2012-08	11343740	35075135	27950385	230	53090											
CHD6	84181	broad.mit.edu	37	chr20	40049688	40049688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcctcctcatcactgtGgttctgactcaaaatcaatt	9	16	4	12	0	6	1	4	1	2	0	8	1	8	1	2	1	0	1	2	1	3	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:40049688G>A	ENST00000373233.3	-	31	5764	c.5587C>T	c.(5587-5589)Cac>Tac	p.H1863Y		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1863					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				tcatcACTGTGGTTCTGACTC	0.428													20	72					0	0	0	0	A	40049688	G	A	40049688	3	1	296	1	0	0	0	0	1	0	0	0	3358	1348	47	4	2588	4	CHD6	20	40049688	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	4974553	40049688	22975832	231	53091											
GNAS	2778	broad.mit.edu	37	chr20	57429461	57429461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctccggggtacggatccCctgccgccggggcagcctca	4	6	13	18	4	2	0	1	0	1	0	4	1	3	1	7	5	3	2	7	5	1	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:57429461C>G	ENST00000371100.4	+	1	1693	c.1141C>G	c.(1141-1143)Cct>Gct	p.P381A	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.P381A|GNAS_ENST00000371102.4_Missense_Mutation_p.P381A|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306120.3_Silent_p.P317P|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTACGGATCCCCTGCCGCCGG	0.682			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			3	5					0	0	0	0	G	57429461	C	G	57429461	3	3	296	1	0	0	0	0	1	0	0	0	6561	623	22	4	1885	4	GNAS	20	57429461	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	17379773	57429461	5596059	232	53092											
SLC17A9	63910	broad.mit.edu	37	chr20	61598820	61598820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtttggacaggctcagaggGtggacctgagctctacccat	8	10	13	10	0	2	2	1	1	1	1	2	4	2	4	2	4	2	3	2	4	1	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:61598820G>A	ENST00000370349.3	+	14	1465	c.1261G>A	c.(1261-1263)Gtg>Atg	p.V421M	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.V427M			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	427					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGCTCAGAGGGTGGACCTGAG	0.617													33	117					0	0	0	0	A	61598820	G	A	61598820	3	1	296	1	0	0	0	0	1	0	0	0	14512	1261	44	4	1329	4	SLC17A9	20	61598820	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	4169359	61598820	1426700	233	53093											
BAGE2	85319	broad.mit.edu	37	chr21	11058282	11058282	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtacatttctcttcacaGcatttgatagtggctccaaa	10	14	8	9	0	2	1	1	1	1	0	4	1	3	1	1	2	2	3	1	2	3	5			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr21:11058282G>A	ENST00000470054.1	-	0	365									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTCTTCACAGCATTTGATAG	0.403													5	178					0	0	0	0	A	11058282	G	A	11058282	1	1	296	0	1	0	0	0	0	0	0	0	1296	971	34	4		4	BAGE2	21	11058282	RNA	SNP	G	TCGA-CV-7252-01A-11D-2012-08		11058282	37071613	234	53094											
LIPI	149998	broad.mit.edu	37	chr21	15561401	15561401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactcacagcaacttttctgGtgtttttaactgctctatta	10	17	5	9	0	3	0	1	0	2	0	3	0	3	0	0	1	5	3	0	1	5	7			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr21:15561401G>T	ENST00000344577.2	-	2	474	c.449C>A	c.(448-450)aCc>aAc	p.T150N	LIPI_ENST00000536861.1_Missense_Mutation_p.T129N	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	129					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AACTTTTCTGGTGTTTTTAAC	0.328													9	61					7.48243e-07	2.75655e-06	1	0	T	15561401	G	T	15561401	3	4	296	1	0	0	0	0	1	0	0	0	8880	1261	44	4	1032	4	LIPI	21	15561401	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	4503119	15561401	32568494	235	53095											
SYNJ1	8867	broad.mit.edu	37	chr21	34011425	34011425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcttcagtggttcaggaagGaaagttgaacctaaaaaacc	15	8	11	7	0	2	1	2	1	0	0	2	3	2	3	2	4	2	3	2	4	6	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr21:34011425G>A	ENST00000382499.2	-	31	3824	c.3825C>T	c.(3823-3825)ttC>ttT	p.F1275F	SYNJ1_ENST00000357345.3_Silent_p.F1220F|SYNJ1_ENST00000322229.7_Silent_p.F1236F|SYNJ1_ENST00000433931.2_Silent_p.F1275F|SYNJ1_ENST00000382491.3_Silent_p.F1189F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1236	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTTCAGGAAGGAAAGTTGAAC	0.453													22	88					0	0	0	0	A	34011425	G	A	34011425	2	1	296	1	0	0	0	0	0	0	0	1	15543	1165	41	2		2	SYNJ1	21	34011425	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	18450024	34011425	14118470	236	53096											
NDUFV3	4731	broad.mit.edu	37	chr21	44324169	44324169	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaggcggcccctcccctGcccagaaaggaaacctcagg	10	3	11	17	2	1	1	1	0	0	1	2	2	2	2	6	4	2	1	6	4	3	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr21:44324169G>T	ENST00000354250.2	+	3	1116	c.1047G>T	c.(1045-1047)ctG>ctT	p.L349L	NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	54					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	CCCCTCCCCTGCCCAGAAAGG	0.617													13	48					9.31168e-06	3.36044e-05	1	0	T	44324169	G	T	44324169	2	4	296	1	0	0	0	0	0	0	0	1	10371	1306	46	4		4	NDUFV3	21	44324169	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	10312744	44324169	3805726	237	53097											
AIFM3	150209	broad.mit.edu	37	chr22	21332000	21332000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtcaggtgcagtgcccGccacaggcttcctgaggcaa	7	8	12	14	1	1	1	1	1	0	0	3	1	3	1	4	3	2	3	4	3	1	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr22:21332000G>A	ENST00000399167.2	+	15	1534	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	AIFM3_ENST00000399163.2_Missense_Mutation_p.A432T|AIFM3_ENST00000405089.1_Missense_Mutation_p.A438T|AIFM3_ENST00000333607.6_Missense_Mutation_p.A432T|AIFM3_ENST00000440238.2_Missense_Mutation_p.A432T|AIFM3_ENST00000335375.5_Missense_Mutation_p.A420T|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGCAGTGCCCGCCACAGGCTT	0.617													25	53					0	0	0	0	A	21332000	G	A	21332000	3	1	296	1	0	0	0	0	1	0	0	0	428	1087	38	1	1366	1	AIFM3	22	21332000	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08		21332000	29972566	238	53098											
KCNJ4	3761	broad.mit.edu	37	chr22	38823608	38823608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgcccgcttcttgggcCgcgccatcttggccatgatg	3	11	12	15	4	3	1	0	1	3	0	3	1	3	1	4	2	1	1	4	2	0	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr22:38823608C>T	ENST00000303592.3	-	2	788	c.530G>A	c.(529-531)cGg>cAg	p.R177Q		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	177					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CTTCTTGGGCCGCGCCATCTT	0.642													8	51					0	0	0	0	T	38823608	C	T	38823608	3	4	296	1	0	0	0	0	1	0	0	0	8106	652	23	1	811	1	KCNJ4	22	38823608	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	17491608	38823608	12480958	239	53099											
NHS	4810	broad.mit.edu	37	chrX	17744773	17744773	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaaaccaaaggcaaagccGaccccacctaaacgtagctc	16	3	8	14	2	0	0	0	0	0	0	1	2	0	1	5	2	4	3	5	2	6	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:17744773G>A	ENST00000380060.3	+	6	2822	c.2484G>A	c.(2482-2484)ccG>ccA	p.P828P	NHS_ENST00000398097.3_Silent_p.P672P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	828						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGGCAAAGCCGACCCCACCTA	0.502													29	141					0	0	0	0	A	17744773	G	A	17744773	2	1	296	1	0	0	0	0	0	0	0	1	10481	1045	37	1		1	NHS	23	17744773	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08		17744773	137525787	240	53100											
SRPX	8406	broad.mit.edu	37	chrX	38009042	38009042	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaagtgtcaatcaggttGaacagggccacaggcatcac	14	6	12	9	0	3	1	3	1	0	0	3	2	3	2	1	4	1	2	1	4	4	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:38009042G>A	ENST00000378533.3	-	10	1423	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	SRPX_ENST00000343800.6_Silent_p.F426F|SRPX_ENST00000432886.2_Silent_p.F380F|SRPX_ENST00000538295.1_3'UTR|SRPX_ENST00000544439.1_Silent_p.F419F|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000479015.1_5'UTR	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	439					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CAATCAGGTTGAACAGGGCCA	0.498													18	48					0	0	0	0	A	38009042	G	A	38009042	2	1	296	1	0	0	0	0	0	0	0	1	15254	1281	45	2		2	SRPX	23	38009042	Silent	SNP	G	TCGA-CV-7252-01A-11D-2012-08	20264269	38009042	117261518	241	53101											
MAOB	4129	broad.mit.edu	37	chrX	43652760	43652760	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggtttctcatcattggCagagggggattgaagtgaat	10	13	13	5	0	3	3	2	2	2	1	4	4	3	4	0	4	0	2	0	4	2	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:43652760C>A	ENST00000378069.4	-	8	981	c.834G>T	c.(832-834)ctG>ctT	p.L278L	MAOB_ENST00000538942.1_Silent_p.L262L|MAOB_ENST00000536181.1_Silent_p.L262L	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	278					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TCATCATTGGCAGAGGGGGAT	0.413													24	63					1.42536e-11	5.42044e-11	1	0	A	43652760	C	A	43652760	2	1	296	1	0	0	0	0	0	0	0	1	9295	697	25	4		4	MAOB	23	43652760	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	5643718	43652760	111617800	242	53102											
TFE3	7030	broad.mit.edu	37	chrX	48891046	48891046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttaatgttgaatcgcctgCgacgctcaactttggagagg	9	11	12	9	4	1	2	1	1	0	1	2	4	1	2	1	2	2	3	1	2	3	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:48891046C>T	ENST00000315869.7	-	8	1329	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	357					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GAATCGCCTGCGACGCTCAAC	0.532			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								22	47					0	0	0	0	T	48891046	C	T	48891046	3	4	296	1	0	0	0	0	1	0	0	0	15894	768	27	1	669	1	TFE3	23	48891046	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	5238286	48891046	106379514	243	53103											
ZXDB	158586	broad.mit.edu	37	chrX	57618953	57618953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactccggccccgatctccGcccccggccccgccgcggcc	2	3	10	26	7	1	0	0	0	1	0	3	1	2	0	11	3	0	0	11	3	0	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:57618953G>A	ENST00000374888.1	+	1	685	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						cccgatctccgcccccggccc	0.751													6	15					0	0	0	0	A	57618953	G	A	57618953	3	1	296	1	0	0	0	0	1	0	0	0	18342	1087	38	1	474	1	ZXDB	23	57618953	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	8727907	57618953	97651607	244	53104											
EDA	1896	broad.mit.edu	37	chrX	69253320	69253320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtttaagctacatccccGcagcggggagctggaggtac	8	8	15	10	2	0	0	0	0	0	0	1	2	1	2	2	5	5	5	2	5	3	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:69253320G>A	ENST00000374552.4	+	7	1108	c.866G>A	c.(865-867)cGc>cAc	p.R289H	EDA_ENST00000524573.1_Missense_Mutation_p.R286H|EDA_ENST00000374553.2_Missense_Mutation_p.R289H	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	289					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CTACATCCCCGCAGCGGGGAG	0.498											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	116					0	0	0	0	A	69253320	G	A	69253320	3	1	296	1	0	0	0	0	1	0	0	0	4939	1087	38	1	1028	1	EDA	23	69253320	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	11634367	69253320	86017240	245	53105											
AWAT1	158833	broad.mit.edu	37	chrX	69458111	69458111	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactatctgctgagccatggCactggcaacctcgtgggcat	9	9	11	12	1	1	1	0	1	1	0	2	1	1	1	2	3	4	4	2	3	3	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:69458111C>A	ENST00000374521.3	+	5	551	c.510C>A	c.(508-510)ggC>ggA	p.G170G		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	170					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TGAGCCATGGCACTGGCAACC	0.542													30	76					2.85442e-18	1.12168e-17	1	0	A	69458111	C	A	69458111	2	1	296	1	0	0	0	0	0	0	0	1	1238	697	25	4		4	AWAT1	23	69458111	Silent	SNP	C	TCGA-CV-7252-01A-11D-2012-08	204791	69458111	85812449	246	53106											
RGAG4	340526	broad.mit.edu	37	chrX	71351044	71351044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagaggggggtcagcgggcCcgtcgggggtgctgcgatcc	4	5	21	11	4	1	1	1	0	0	1	3	2	2	1	2	6	3	2	2	6	0	0			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:71351044C>T	ENST00000545866.1	-	1	714	c.347G>A	c.(346-348)gGg>gAg	p.G116E	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.G116E			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	116										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GTCAGCGGGCCCGTCGGGGGT	0.697													6	12					0	0	0	0	T	71351044	C	T	71351044	3	4	296	1	0	0	0	0	1	0	0	0	13357	623	22	4	1366	4	RGAG4	23	71351044	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1892933	71351044	83919516	247	53107											
ATRX	546	broad.mit.edu	37	chrX	76920172	76920173	+	Frame_Shift_Ins	INS	-	-	T																															ttcattttgttttccagttcINStttttttcccttcttctggc																										TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:76920172_76920173insT	ENST00000373344.5	-	11	4118_4119	c.3904_3905insA	c.(3904-3906)aacfs	p.N1302fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.N1264fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTCCAGTTCTTTTTTTCCCT	0.376			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						8	118	---	---	---	---					T	76920173	-	T	76920172	7	5	296	1	0	1	1	0	0	0	0	0	1212	913	32	0	3673	0	ATRX	23	76920172	Frame_Shift_Ins	INS	-	TCGA-CV-7252-01A-11D-2012-08	5569128	76920172	78350388	248	53108											
ATRX	546	broad.mit.edu	37	chrX	76937979	76937979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgctctttcccagaaagCttatcgacaccatcagtgga	10	11	7	13	1	3	1	1	0	2	1	5	3	4	2	2	1	2	2	2	1	2	2			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:76937979C>A	ENST00000373344.5	-	9	2983	c.2769G>T	c.(2767-2769)aaG>aaT	p.K923N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K885N	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	923					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCCAGAAAGCTTATCGACAC	0.398			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						41	230					4.32679e-17	1.68777e-16	1	0	A	76937979	C	A	76937979	3	1	296	1	0	0	0	0	1	0	0	0	1212	796	28	4	4817	4	ATRX	23	76937979	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	17807	76937979	78332581	249	53109											
ATG4A	115201	broad.mit.edu	37	chrX	107377334	107377334	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccaaagaataccaacgcAtcctacagtgcttcttagat	15	9	5	12	1	1	2	0	0	1	2	2	2	2	2	3	0	5	2	3	0	7	4			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:107377334A>C	ENST00000372232.3	+	5	499	c.340A>C	c.(340-342)Atc>Ctc	p.I114L	ATG4A_ENST00000372254.3_Missense_Mutation_p.I90L|ATG4A_ENST00000345734.3_Missense_Mutation_p.I114L|ATG4A_ENST00000545696.1_Missense_Mutation_p.I37L	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	114					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						ATACCAACGCATCCTACAGTG	0.348													14	21					0	0	0	0	C	107377334	A	C	107377334	3	2	296	1	0	0	0	0	1	0	0	0	1100	217	8	5	358	5	ATG4A	23	107377334	Missense_Mutation	SNP	A	TCGA-CV-7252-01A-11D-2012-08	30439355	107377334	47893226	250	53110											
GUCY2F	2986	broad.mit.edu	37	chrX	108708626	108708626	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacattccaagagatgcatCtgagtctctcccccaatcaa	12	9	6	14	0	3	2	1	1	2	1	6	3	5	2	3	0	1	2	3	0	3	1			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:108708626C>G	ENST00000218006.2	-	3	1068	c.777G>C	c.(775-777)caG>caC	p.Q259H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	259					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGAGATGCATCTGAGTCTCTC	0.413													44	127					0	0	0	0	G	108708626	C	G	108708626	3	3	296	1	0	0	0	0	1	0	0	0	6948	912	32	2	2617	2	GUCY2F	23	108708626	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	1331292	108708626	46561934	251	53111											
WDR44	54521	broad.mit.edu	37	chrX	117526618	117526618	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgaaagtattattgaggaGagtcagaaagtactacagct	16	11	10	4	0	1	4	1	2	0	2	1	5	1	4	0	1	3	3	0	1	6	6			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:117526618G>C	ENST00000254029.3	+	4	605	c.210G>C	c.(208-210)gaG>gaC	p.E70D	WDR44_ENST00000371825.3_Missense_Mutation_p.E70D|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Missense_Mutation_p.E45D	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	70	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TTATTGAGGAGAGTCAGAAAG	0.343													19	65					0	0	0	0	C	117526618	G	C	117526618	3	2	296	1	0	0	0	0	1	0	0	0	17392	933	33	2	224	2	WDR44	23	117526618	Missense_Mutation	SNP	G	TCGA-CV-7252-01A-11D-2012-08	8817992	117526618	37743942	252	53112											
THOC2	57187	broad.mit.edu	37	chrX	122767863	122767863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctccattgtcatttcctCtgtaatttctattcctgcca	6	19	4	12	0	3	0	1	0	2	0	6	0	6	0	4	0	2	2	4	0	2	7			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:122767863C>T	ENST00000245838.8	-	20	2108	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	THOC2_ENST00000355725.4_Missense_Mutation_p.E693K|THOC2_ENST00000491737.1_Missense_Mutation_p.E578K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	693					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTCATTTCCTCTGTAATTTCT	0.333													18	87					0	0	0	0	T	122767863	C	T	122767863	3	4	296	1	0	0	0	0	1	0	0	0	15959	922	32	2	2780	2	THOC2	23	122767863	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	5241245	122767863	32502697	253	53113											
L1CAM	3897	broad.mit.edu	37	chrX	153128177	153128177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagctgtcattgccccCtgccgcctccttctccttct	2	13	6	20	1	3	1	1	1	2	0	5	1	4	1	7	0	3	1	7	0	0	3			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:153128177C>T	ENST00000370060.1	-	29	3904	c.3715G>A	c.(3715-3717)Ggg>Agg	p.G1239R	L1CAM_ENST00000361981.3_Missense_Mutation_p.G1230R|L1CAM_ENST00000361699.4_Missense_Mutation_p.G1235R|L1CAM_ENST00000543994.1_Missense_Mutation_p.G1241R|L1CAM_ENST00000538883.1_Missense_Mutation_p.G1237R|L1CAM_ENST00000370057.3_Missense_Mutation_p.G1239R|L1CAM_ENST00000370055.1_Missense_Mutation_p.G1230R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1239			G -> E.		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATTGCCCCCTGCCGCCTCC	0.602													22	67					0	0	0	0	T	153128177	C	T	153128177	3	4	296	1	0	0	0	0	1	0	0	0	8641	681	24	4	62	4	L1CAM	23	153128177	Missense_Mutation	SNP	C	TCGA-CV-7252-01A-11D-2012-08	30360314	153128177	2142383	254	53114											
RER1	11079	broad.mit.edu	37	chr1	2330854	2330854	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctctttccttctctttcagGgttggtacattgtgacctat	5	19	7	10	0	3	1	1	1	2	0	6	1	4	1	2	2	1	2	2	2	2	7			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:2330854G>A	ENST00000605895.1	+	4	320	c.186_splice	c.e4-1	p.G63_splice	RER1_ENST00000378513.3_Intron|RER1_ENST00000488353.1_Splice_Site_p.G63_splice|RER1_ENST00000378518.1_Intron|RER1_ENST00000378512.1_Splice_Site_p.G63_splice	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	63					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		TCTCTTTCAGGGTTGGTACAT	0.463													9	93					0	0	0	0	A	2330854	G	A	2330854	5	1	297	1	0	0	0	0	0	0	1	0	13312	1246	43	4	197	4	RER1	1	2330854	Splice_Site	SNP	G	TCGA-CV-7253-01A-11D-2012-08		2330854	246919767	1	53115											
C1orf63	57035	broad.mit.edu	37	chr1	25573139	25573139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggtaccgcgaaggagaccGgtagtatctcctggtgaacc	9	7	13	12	4	1	2	0	1	1	1	2	4	1	2	5	4	2	3	5	4	5	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:25573139G>A	ENST00000243189.7	-	2	592	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	C1orf63_ENST00000417642.2_Missense_Mutation_p.R99W|C1orf63_ENST00000431849.2_Missense_Mutation_p.R106W	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	106	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAAGGAGACCGGTAGTATCTC	0.672													8	67					0	0	0	0	A	25573139	G	A	25573139	3	1	297	1	0	0	0	0	1	0	0	0	2073	1115	39	1	572	1	C1orf63	1	25573139	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	23242285	25573139	223677482	2	53116											
TMEM57	55219	broad.mit.edu	37	chr1	25810763	25810763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaacgagctgctgcagaaCaagtacgtgcacctttcagg	12	7	12	10	2	1	2	1	0	0	2	1	4	1	2	1	1	7	5	1	1	4	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:25810763C>A	ENST00000374343.4	+	7	1490	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	TMEM57_ENST00000399763.3_Missense_Mutation_p.N79K|TMEM57_ENST00000399766.3_Missense_Mutation_p.N210K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	437						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGCAGAACAAGTACGTGC	0.572													17	51					2.48551e-13	2.98717e-13	1	0	A	25810763	C	A	25810763	3	1	297	1	0	0	0	0	1	0	0	0	16278	477	17	4	1337	4	TMEM57	1	25810763	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	237624	25810763	223439858	3	53117											
ZNHIT6	54680	broad.mit.edu	37	chr1	86146537	86146537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttttttctatgtactcaGcttgactttgaggaaactgg	9	16	8	8	0	2	2	1	2	1	0	2	3	2	3	1	2	3	2	1	2	3	7			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:86146537G>T	ENST00000431532.2	-	7	1101	c.953C>A	c.(952-954)gCt>gAt	p.A318D	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.A357D	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	357					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TATGTACTCAGCTTGACTTTG	0.318													5	19					0.00116845	0.0012394	1	0	T	86146537	G	T	86146537	3	4	297	1	0	0	0	0	1	0	0	0	18302	971	34	4	362	4	ZNHIT6	1	86146537	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	60335774	86146537	163104084	4	53118											
COL11A1	1301	broad.mit.edu	37	chr1	103364525	103364525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcaccttgtcttcccTctgcacctgcagctccagga	5	14	6	16	0	3	0	1	0	2	0	5	1	5	1	4	1	3	3	4	1	0	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:103364525T>C	ENST00000358392.2	-	55	4465	c.4148A>G	c.(4147-4149)gAg>gGg	p.E1383G	COL11A1_ENST00000353414.4_Missense_Mutation_p.E1332G|COL11A1_ENST00000512756.1_Missense_Mutation_p.E1255G|COL11A1_ENST00000370096.3_Missense_Mutation_p.E1371G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1371	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGTCTTCCCTCTGCACCTGC	0.274													7	10					0	0	0	0	C	103364525	T	C	103364525	3	2	297	1	0	0	0	0	1	0	0	0	3697	1551	54	5	1360	5	COL11A1	1	103364525	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	17217988	103364525	145886096	5	53119											
CELSR2	1952	broad.mit.edu	37	chr1	109795741	109795743	+	In_Frame_Del	DEL	CTT	CTT	-																															ctacagtccacgtccgcctcCttgaccgcaatgacaaccca																								rs115856488	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:109795741_109795743delCTT	ENST00000271332.3	+	1	3101_3103	c.3040_3042delCTT	c.(3040-3042)del	p.L1014del		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1014	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGTCCGCCTCCTTGACCGCAATG	0.581													27	73	---	---	---	---					-	109795743	CTT	-	109795741	7	5	297	1	0	1	0	1	0	0	0	0	3251	681	24	0	3042	0	CELSR2	1	109795741	In_Frame_Del	DEL	CTT	TCGA-CV-7253-01A-11D-2012-08	6431216	109795741	139454880	6	53120											
CEPT1	10390	broad.mit.edu	37	chr1	111726202	111726203	+	Frame_Shift_Del	DEL	TT	TT	-																															tgaatatattgtactttggaTtgccctggtaagtattgtac																										TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:111726202_111726203delTT	ENST00000545121.1	+	8	1332_1333	c.1124_1125delTT	c.(1123-1125)afs	p.I375fs	CEPT1_ENST00000467362.1_3'UTR|CEPT1_ENST00000357172.4_Frame_Shift_Del_p.I375fs	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	375						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GTACTTTGGATTGCCCTGGTAA	0.361													25	78	---	---	---	---					-	111726203	TT	-	111726202	7	5	297	1	0	1	0	1	0	0	0	0	3293	1493	52	0	1150	0	CEPT1	1	111726202	Frame_Shift_Del	DEL	TT	TCGA-CV-7253-01A-11D-2012-08	1930461	111726202	137524419	7	53121											
BCL9	607	broad.mit.edu	37	chr1	147091476	147091476	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgatggtccatcagcaCgggcctcggggagtggtccg	7	7	16	11	3	1	1	1	1	0	0	4	3	3	2	3	5	1	1	3	5	0	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:147091476C>T	ENST00000234739.3	+	8	2255	c.1515C>T	c.(1513-1515)caC>caT	p.H505H		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	505	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCCATCAGCACGGGCCTCGGG	0.567			T	"IGH@, IGL@"	B-ALL								41	100					0	0	0	0	T	147091476	C	T	147091476	2	4	297	1	0	0	0	0	0	0	0	1	1385	535	19	1		1	BCL9	1	147091476	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	35365274	147091476	102159145	8	53122											
KPRP	448834	broad.mit.edu	37	chr1	152732519	152732519	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtagaatgcccagtccagaActatgtaccctgtccagctc	10	10	8	13	0	0	2	0	0	0	2	3	2	2	2	4	0	4	3	4	0	5	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:152732519A>T	ENST00000368773.1	+	2	513	c.455A>T	c.(454-456)aAc>aTc	p.N152I	KPRP_ENST00000606109.1_Missense_Mutation_p.N152I	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	152	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGTCCAGAACTATGTACCC	0.502													48	107					0	0	0	0	T	152732519	A	T	152732519	3	4	297	1	0	0	0	0	1	0	0	0	8488	43	2	5	457	5	KPRP	1	152732519	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	5641043	152732519	96518102	9	53123											
INTS3	65123	broad.mit.edu	37	chr1	153745728	153745728	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaagggtcctctgcagtGggctctgacagtgactgagg	9	8	15	9	1	2	3	0	3	2	0	3	4	3	3	1	3	1	2	1	3	2	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:153745728G>A	ENST00000456435.1	+	29	3877	c.2691G>A	c.(2689-2691)gtG>gtA	p.V897V	INTS3_ENST00000512605.1_Silent_p.V897V|INTS3_ENST00000318967.2_Silent_p.V1037V|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.V1037V			Q68E01	INT3_HUMAN	integrator complex subunit 3	1038					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTCTGCAGTGGGCTCTGACA	0.552													42	74					0	0	0	0	A	153745728	G	A	153745728	2	1	297	1	0	0	0	0	0	0	0	1	7832	1335	47	4		4	INTS3	1	153745728	Silent	SNP	G	TCGA-CV-7253-01A-11D-2012-08	1013209	153745728	95504893	10	53124											
ATP8B2	57198	broad.mit.edu	37	chr1	154316484	154316484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcctggcccaggacagccGggaggacaggctggctagca	9	3	16	13	1	0	0	0	0	0	0	0	3	0	3	3	6	3	3	3	6	1	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:154316484G>T	ENST00000368489.3	+	18	1973	c.1973G>T	c.(1972-1974)cGg>cTg	p.R658L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	644					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGGACAGCCGGGAGGACAGG	0.632													17	32					4.75885e-15	5.79916e-15	1	0	T	154316484	G	T	154316484	3	4	297	1	0	0	0	0	1	0	0	0	1199	1116	39	3	2173	3	ATP8B2	1	154316484	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	570756	154316484	94934137	11	53125											
KIAA0907	22889	broad.mit.edu	37	chr1	155895555	155895555	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaaataggagcagcctggaCcttccaccttctccttgaca	10	9	8	14	0	1	1	0	1	1	0	3	3	2	3	5	2	2	2	5	2	2	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:155895555C>A	ENST00000368320.3	-	7	786	c.761G>T	c.(760-762)gGt>gTt	p.G254V	KIAA0907_ENST00000368319.3_Missense_Mutation_p.G254V|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.G254V			Q7Z7F0	K0907_HUMAN	KIAA0907	254										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCAGCCTGGACCTTCCACCTT	0.458													18	44					2.94398e-08	3.41294e-08	1	0	A	155895555	C	A	155895555	3	1	297	1	0	0	0	0	1	0	0	0	8250	507	18	4	1115	4	KIAA0907	1	155895555	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	1579071	155895555	93355066	12	53126											
RHBG	57127	broad.mit.edu	37	chr1	156348086	156348086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactatccacacctttggtgCctacttcgggctcgtccttt	5	14	8	14	2	0	0	0	0	0	0	4	1	2	0	4	2	2	1	4	2	2	5			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:156348086C>T	ENST00000400992.2	+	4	841	c.473C>T	c.(472-474)gCc>gTc	p.A158V	RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368246.2_Missense_Mutation_p.A190V|RHBG_ENST00000368249.1_Missense_Mutation_p.A190V|RHBG_ENST00000255013.3_Missense_Mutation_p.A121V|RHBG_ENST00000451864.2_Missense_Mutation_p.A158V			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	190					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ACCTTTGGTGCCTACTTCGGG	0.642													7	161					0	0	0	0	T	156348086	C	T	156348086	3	4	297	1	0	0	0	0	1	0	0	0	13407	739	26	4	583	4	RHBG	1	156348086	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	452531	156348086	92902535	13	53127											
F11R	50848	broad.mit.edu	37	chr1	160969992	160969992	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgctgaaggcacgggtgcTtttgggattcgtaggcatca	7	12	15	7	2	1	1	1	1	0	0	2	2	1	2	0	4	2	6	0	4	2	5			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:160969992T>A	ENST00000368026.6	-	5	809	c.535A>T	c.(535-537)Agc>Tgc	p.S179C	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.S130C	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	179	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GCACGGGTGCTTTTGGGATTC	0.512													45	62					0	0	0	0	A	160969992	T	A	160969992	3	1	297	1	0	0	0	0	1	0	0	0	5376	1609	56	5	388	5	F11R	1	160969992	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	4621906	160969992	88280629	14	53128											
TMCO1	54499	broad.mit.edu	37	chr1	165737484	165737484	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgtacttgtctgtcctGtaaaccaggacccaggttat	8	14	8	11	0	2	0	0	0	2	0	3	1	3	1	3	2	2	3	3	2	4	5			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:165737484G>A	ENST00000367881.5	-	2	521	c.246C>T	c.(244-246)taC>taT	p.Y82Y	TMCO1_ENST00000580248.1_5'UTR|TMCO1_ENST00000464650.1_5'UTR|TMCO1_ENST00000392129.6_Silent_p.Y31Y			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	31						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TGTCTGTCCTGTAAACCAGGA	0.373													12	19					0	0	0	0	A	165737484	G	A	165737484	2	1	297	1	0	0	0	0	0	0	0	1	16089	1372	48	4		4	TMCO1	1	165737484	Silent	SNP	G	TCGA-CV-7253-01A-11D-2012-08	4767492	165737484	83513137	15	53129											
ILDR2	387597	broad.mit.edu	37	chr1	166892037	166892037	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggagctgagttctgagatgGtgttgttatctgcagggaca	8	12	16	5	0	2	2	0	2	2	1	2	5	2	4	0	3	2	5	0	3	1	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:166892037G>C	ENST00000271417.3	-	8	1059	c.1004C>G	c.(1003-1005)aCc>aGc	p.T335S	ILDR2_ENST00000529071.1_Missense_Mutation_p.T316S|ILDR2_ENST00000469934.2_Missense_Mutation_p.T335S|ILDR2_ENST00000525740.1_Missense_Mutation_p.T208S|ILDR2_ENST00000528703.1_Missense_Mutation_p.T276S|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Missense_Mutation_p.T227S	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	335						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TTCTGAGATGGTGTTGTTATC	0.478													32	72					0	0	0	0	C	166892037	G	C	166892037	3	2	297	1	0	0	0	0	1	0	0	0	7763	1261	44	4	927	4	ILDR2	1	166892037	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	1154553	166892037	82358584	16	53130											
ADCY10	55811	broad.mit.edu	37	chr1	167868789	167868789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggcgcacatcgtccaCtgcctgaccaatcaccagaa	12	5	9	15	2	1	2	1	1	0	1	3	2	2	2	4	2	1	2	4	2	3	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:167868789C>T	ENST00000367848.1	-	6	735	c.238G>A	c.(238-240)Gtg>Atg	p.V80M	ADCY10_ENST00000367851.4_Missense_Mutation_p.V172M|ADCY10_ENST00000545172.1_Missense_Mutation_p.V19M			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	172	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|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						ACATCGTCCACTGCCTGACCA	0.507													17	36					0	0	0	0	T	167868789	C	T	167868789	3	4	297	1	0	0	0	0	1	0	0	0	293	565	20	4	4430	4	ADCY10	1	167868789	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	976752	167868789	81381832	17	53131											
TNR	7143	broad.mit.edu	37	chr1	175372692	175372692	+	Frame_Shift_Del	DEL	C	C	-																															agccttcgttgcagatgcagCcacaggactcaaagctaaag																										TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:175372692delC	ENST00000367674.1	-	4	1268	c.560delG	c.(559-561)gcfs	p.G187fs	TNR_ENST00000263525.2_Frame_Shift_Del_p.G187fs	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	187	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCAGATGCAGCCACAGGACTC	0.577													20	128	---	---	---	---					-	175372692	C	-	175372692	7	5	297	1	0	1	0	1	0	0	0	0	16432	739	26	0	3596	0	TNR	1	175372692	Frame_Shift_Del	DEL	C	TCGA-CV-7253-01A-11D-2012-08	7503903	175372692	73877929	18	53132											
PTGS2	5743	broad.mit.edu	37	chr1	186645174	186645174	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaggggatgccagtgAtagagggtgttaaattcagc	12	8	16	5	0	1	3	1	1	0	2	1	4	1	4	1	4	2	2	1	4	4	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:186645174A>C	ENST00000367468.5	-	8	1249	c.1113T>G	c.(1111-1113)taT>taG	p.Y371*	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	371					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GATGCCAGTGATAGAGGGTGT	0.383													42	57					0	0	0	0	C	186645174	A	C	186645174	4	2	297	1	0	0	0	0	0	1	0	0	12836	340	12	5	713	5	PTGS2	1	186645174	Nonsense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	11272482	186645174	62605447	19	53133											
CFH	3075	broad.mit.edu	37	chr1	196648779	196648779	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgcaaatccccagatgttAtaaatggatctcctatatct	13	13	5	10	0	2	1	0	0	2	1	4	2	3	2	3	1	1	2	3	1	6	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:196648779A>G	ENST00000367429.4	+	6	886	c.646A>G	c.(646-648)Ata>Gta	p.I216V	CFH_ENST00000359637.2_Missense_Mutation_p.I152V|CFH_ENST00000439155.2_Missense_Mutation_p.I216V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	216	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCCAGATGTTATAAATGGATC	0.299													6	17					0	0	0	0	G	196648779	A	G	196648779	3	3	297	1	0	0	0	0	1	0	0	0	3312	449	16	5	668	5	CFH	1	196648779	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	10003605	196648779	52601842	20	53134											
KIF21B	23046	broad.mit.edu	37	chr1	200978555	200978555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggacctggggctctcccgGggtaacagaggtacagatgt	9	7	15	10	1	1	2	0	0	1	2	2	3	1	3	2	6	2	3	2	6	2	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:200978555G>A	ENST00000332129.2	-	2	419	c.103C>T	c.(103-105)Ccg>Tcg	p.P35S	KIF21B_ENST00000360529.5_Missense_Mutation_p.P35S|KIF21B_ENST00000422435.2_Missense_Mutation_p.P35S|KIF21B_ENST00000461742.2_Missense_Mutation_p.P35S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	35	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGCTCTCCCGGGGTAACAGAG	0.577													4	78					0	0	0	0	A	200978555	G	A	200978555	3	1	297	1	0	0	0	0	1	0	0	0	8340	1232	43	4	4903	4	KIF21B	1	200978555	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	4329776	200978555	48272066	21	53135											
IGFN1	91156	broad.mit.edu	37	chr1	201196111	201196111	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgccccagggctgcGagtgctgcatgagctgtgcc	5	8	14	14	1	0	1	0	1	0	0	0	2	0	1	4	1	7	5	4	1	0	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:201196111G>T	ENST00000335211.4	+	23	11018	c.10888G>T	c.(10888-10890)Gag>Tag	p.E3630*	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCAGGGCTGCGAGTGCTGCAT	0.677													64	94					2.91325e-39	3.83554e-39	1	0	T	201196111	G	T	201196111	4	4	297	1	0	0	0	0	0	1	0	0	7643	1059	37	3	10974	3	IGFN1	1	201196111	Nonsense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	217556	201196111	48054510	22	53136											
ADORA1	134	broad.mit.edu	37	chr1	203134630	203134630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctgcccccgcttctcCtcatggtcctcatctacctg	3	12	9	17	1	4	0	2	0	2	0	6	0	5	0	5	2	3	2	5	2	1	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:203134630C>T	ENST00000367236.4	+	3	1504	c.583C>T	c.(583-585)Ctc>Ttc	p.L195F	ADORA1_ENST00000337894.4_Missense_Mutation_p.L195F|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.L195F|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	195					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CCCGCTTCTCCTCATGGTCCT	0.552													23	76					0	0	0	0	T	203134630	C	T	203134630	3	4	297	1	0	0	0	0	1	0	0	0	326	681	24	4	589	4	ADORA1	1	203134630	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	1938519	203134630	46115991	23	53137											
PCNXL2	80003	broad.mit.edu	37	chr1	233397851	233397851	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctgcagcggaggggAggcgtggagaggtttcgact	7	7	20	7	3	0	1	0	0	0	1	1	6	0	4	0	7	3	3	0	7	0	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:233397851A>G	ENST00000258229.8	-	3	654	c.420T>C	c.(418-420)ccT>ccC	p.P140P	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	140						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGCGGAGGGGAGGCGTGGAGA	0.488													3	137					0	0	0	0	G	233397851	A	G	233397851	2	3	297	1	0	0	0	0	0	0	0	1	11663	291	11	5		5	PCNXL2	1	233397851	Silent	SNP	A	TCGA-CV-7253-01A-11D-2012-08	30263221	233397851	15852770	24	53138											
RGS7	6000	broad.mit.edu	37	chr1	241032090	241032090	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcactttgcttgtgcttcTgcttgcatgaaaatgaactc	9	15	7	10	0	2	2	1	2	1	0	3	2	2	2	0	0	5	4	0	0	3	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:241032090T>A	ENST00000366565.1	-	8	894	c.513A>T	c.(511-513)gcA>gcT	p.A171A	RGS7_ENST00000446183.2_Silent_p.A87A|RGS7_ENST00000366562.4_Silent_p.A171A|RGS7_ENST00000331110.7_Silent_p.A145A|RGS7_ENST00000407727.1_Silent_p.A171A|RGS7_ENST00000401882.1_Silent_p.A118A|RGS7_ENST00000366563.1_Silent_p.A171A|RGS7_ENST00000366564.1_Silent_p.A171A|RGS7_ENST00000348120.2_Silent_p.A118A	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	171					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTTGTGCTTCTGCTTGCATGA	0.448													12	145					0	0	0	0	A	241032090	T	A	241032090	2	1	297	1	0	0	0	0	0	0	0	1	13393	1567	55	5		5	RGS7	1	241032090	Silent	SNP	T	TCGA-CV-7253-01A-11D-2012-08	7634239	241032090	8218531	25	53139											
WDR35	57539	broad.mit.edu	37	chr2	20138033	20138033	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttttaaataccaaagtcGggggtgtggattgtcctcta	9	16	10	6	1	1	0	0	0	1	0	3	1	2	1	2	3	1	0	2	3	5	7			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:20138033G>A	ENST00000345530.3	-	19	2204	c.2089C>T	c.(2089-2091)Cga>Tga	p.R697*	WDR35_ENST00000416055.2_Nonsense_Mutation_p.R262*|WDR35_ENST00000281405.4_Nonsense_Mutation_p.R686*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	697										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCAAAGTCGGGGGTGTGGA	0.438													22	122					0	0	0	0	A	20138033	G	A	20138033	4	1	297	1	0	0	0	0	0	1	0	0	17385	1124	39	1	1496	1	WDR35	2	20138033	Nonsense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08		20138033	223061340	26	53140											
C2orf16	84226	broad.mit.edu	37	chr2	27804830	27804830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacagtccctctgagagaagCcatcacagtccctctgagag	11	7	9	14	0	3	3	1	2	2	2	5	5	5	3	3	0	1	0	3	0	1	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:27804830C>A	ENST00000408964.2	+	1	5442	c.5391C>A	c.(5389-5391)agC>agA	p.S1797R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1797	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGAGAGAAGCCATCACAGTC	0.547													23	322					8.53417e-09	9.93757e-09	1	0	A	27804830	C	A	27804830	3	1	297	1	0	0	0	0	1	0	0	0	2177	738	26	4	5393	4	C2orf16	2	27804830	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	7666797	27804830	215394543	27	53141											
YPEL5	51646	broad.mit.edu	37	chr2	30379615	30379615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcagaactcatctccaCtcgtttcacaggcgccactg	8	9	7	17	3	4	1	3	0	1	1	6	1	4	1	3	1	1	2	3	1	1	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:30379615C>T	ENST00000379520.3	+	4	602	c.98C>T	c.(97-99)aCt>aTt	p.T33I	YPEL5_ENST00000402003.3_Missense_Mutation_p.T33I|YPEL5_ENST00000379519.3_Missense_Mutation_p.T33I|YPEL5_ENST00000261353.4_Missense_Mutation_p.T33I|YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000402708.1_Missense_Mutation_p.T33I	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	33							peptide-methionine-(S)-S-oxide reductase activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					CTCATCTCCACTCGTTTCACA	0.438													20	131					0	0	0	0	T	30379615	C	T	30379615	3	4	297	1	0	0	0	0	1	0	0	0	17589	565	20	4	100	4	YPEL5	2	30379615	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	2574785	30379615	212819758	28	53142											
LRPPRC	10128	broad.mit.edu	37	chr2	44145429	44145429	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaacttcctggttacccTctctaaggatttctgctaat	9	14	7	11	1	2	0	0	0	2	0	4	2	3	2	2	3	3	2	2	3	4	5			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:44145429T>A	ENST00000260665.7	-	28	3062	c.3005A>T	c.(3004-3006)gAg>gTg	p.E1002V		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1002					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGGTTACCCTCTCTAAGGAT	0.368													14	43					0	0	0	0	A	44145429	T	A	44145429	3	1	297	1	0	0	0	0	1	0	0	0	9029	1551	54	5	1223	5	LRPPRC	2	44145429	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	13765814	44145429	199053944	29	53143											
CCDC85A	114800	broad.mit.edu	37	chr2	56419698	56419698	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaccggcagaaaggcaagagGgtgtctcgggagtggcagag	11	4	19	7	2	1	3	0	0	1	3	2	5	1	4	1	5	0	3	1	5	2	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:56419698G>A	ENST00000407595.2	+	2	865	c.363G>A	c.(361-363)agG>agA	p.R121R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	121										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAGGCAAGAGGGTGTCTCGGG	0.542													18	60					0	0	0	0	A	56419698	G	A	56419698	2	1	297	1	0	0	0	0	0	0	0	1	2886	1223	43	4		4	CCDC85A	2	56419698	Silent	SNP	G	TCGA-CV-7253-01A-11D-2012-08	12274269	56419698	186779675	30	53144											
APLF	200558	broad.mit.edu	37	chr2	68772424	68772424	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccggcctgaatgtccCtatggaccatcctgttatag	9	11	10	11	1	0	2	0	2	0	0	2	4	2	3	5	2	0	1	5	2	4	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:68772424C>G	ENST00000303795.4	+	8	1437	c.1266C>G	c.(1264-1266)ccC>ccG	p.P422P	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	422					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CTGAATGTCCCTATGGACCAT	0.423													6	47					0	0	0	0	G	68772424	C	G	68772424	2	3	297	1	0	0	0	0	0	0	0	1	777	668	24	4		4	APLF	2	68772424	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	12352726	68772424	174426949	31	53145											
ST3GAL5	8869	broad.mit.edu	37	chr2	86075251	86075251	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgctatacctgtgctcaaatAacagcgccattgatgtcttg	10	12	8	11	2	2	1	1	1	1	0	2	1	2	1	2	0	4	2	2	0	4	5			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:86075251A>T	ENST00000377332.3	-	4	503	c.395T>A	c.(394-396)tTa>tAa	p.L132*	ST3GAL5_ENST00000393805.1_Nonsense_Mutation_p.L104*|ST3GAL5_ENST00000393808.3_Nonsense_Mutation_p.L109*	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	132					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GTGCTCAAATAACAGCGCCAT	0.483													135	222					0	0	0	0	T	86075251	A	T	86075251	4	4	297	1	0	0	0	0	0	1	0	0	15308	372	13	5	877	5	ST3GAL5	2	86075251	Nonsense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	17302827	86075251	157124122	32	53146											
MYO7B	4648	broad.mit.edu	37	chr2	128394185	128394185	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccgacatggggttctgctCatccaccccaagaccaaggt	11	7	9	14	1	2	1	1	0	1	1	3	2	3	1	5	3	2	2	5	3	3	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:128394185C>T	ENST00000389524.4	+	45	6167	c.6114C>T	c.(6112-6114)ctC>ctT	p.L2038L	MYO7B_ENST00000428314.1_Silent_p.L2037L|MYO7B_ENST00000409816.2_Silent_p.L2037L|MYO7B_ENST00000409090.1_Silent_p.L890L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2037	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGGTTCTGCTCATCCACCCCA	0.652													6	12					0	0	0	0	T	128394185	C	T	128394185	2	4	297	1	0	0	0	0	0	0	0	1	10153	813	29	2		2	MYO7B	2	128394185	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	42318934	128394185	114805188	33	53147											
LRP1B	53353	broad.mit.edu	37	chr2	141115638	141115638	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcattttttattactacAagcaaactcatcctttttac	12	17	3	9	0	1	0	1	0	0	0	2	1	2	0	1	0	6	2	1	0	6	8			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:141115638A>C	ENST00000389484.3	-	74	12276	c.11305T>G	c.(11305-11307)Tgt>Ggt	p.C3769G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3769	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTATTACTACAAGCAAACTCA	0.388										TSP Lung(27;0.18)			26	45					0	0	0	0	C	141115638	A	C	141115638	3	2	297	1	0	0	0	0	1	0	0	0	9019	130	5	5	2566	5	LRP1B	2	141115638	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	12721453	141115638	102083735	34	53148											
NEB	4703	broad.mit.edu	37	chr2	152520126	152520126	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcatcaggaagcatgttgTaggtatggatcacgttcctg	9	12	13	7	1	2	0	2	0	0	0	3	2	3	2	1	4	1	6	1	4	3	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:152520126T>C	ENST00000397345.3	-	45	5901	c.5699A>G	c.(5698-5700)tAc>tGc	p.Y1900C	NEB_ENST00000409198.1_Missense_Mutation_p.Y1900C|NEB_ENST00000604864.1_Missense_Mutation_p.Y1900C|NEB_ENST00000603639.1_Missense_Mutation_p.Y1900C|NEB_ENST00000427231.2_Missense_Mutation_p.Y1900C|NEB_ENST00000172853.10_Missense_Mutation_p.Y1900C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1900					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGCATGTTGTAGGTATGGAT	0.483													8	35					0	0	0	0	C	152520126	T	C	152520126	3	2	297	1	0	0	0	0	1	0	0	0	10372	1638	57	5	20539	5	NEB	2	152520126	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	11404488	152520126	90679247	35	53149											
TANC1	85461	broad.mit.edu	37	chr2	160028631	160028631	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgggtctttctctgcaGcctctgaccccactcaggat	8	11	9	13	0	4	1	1	1	3	0	5	3	4	2	3	2	2	1	3	2	1	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:160028631G>T	ENST00000263635.6	+	11	1588		c.e11-1		TANC1_ENST00000454300.1_Splice_Site	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTTCTCTGCAGCCTCTGACCC	0.438													27	52					7.26314e-15	8.80992e-15	1	0	T	160028631	G	T	160028631	5	4	297	1	0	0	0	0	0	0	1	0	15635	985	34	4	1385	4	TANC1	2	160028631	Splice_Site	SNP	G	TCGA-CV-7253-01A-11D-2012-08	7508505	160028631	83170742	36	53150											
TTN	7273	broad.mit.edu	37	chr2	179604400	179604400	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagattcaacttctggttcAgtaatgggttcaaccttctg	9	16	8	8	0	5	1	3	0	2	1	5	1	5	1	1	2	2	3	1	2	4	7			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:179604400A>G	ENST00000589042.1	-	48	13784	c.13560T>C	c.(13558-13560)acT>acC	p.T4520T	TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Silent_p.T4282T|TTN_ENST00000342175.6_Silent_p.T4349T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T4157T|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Silent_p.T4203T|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4203	Ig-like 25.						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)			CTTCTGGTTCAGTAATGGGTT	0.393													40	106					0	0	0	0	G	179604400	A	G	179604400	2	3	297	1	0	0	0	0	0	0	0	1	16831	175	7	5		5	TTN	2	179604400	Silent	SNP	A	TCGA-CV-7253-01A-11D-2012-08	19575769	179604400	63594973	37	53151											
XRCC5	7520	broad.mit.edu	37	chr2	217002844	217002844	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcagctgcctttcatggaAgacttgcggcaatacatgtt	9	12	11	9	1	1	1	1	0	0	1	1	2	1	2	1	2	5	4	1	2	3	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:217002844A>C	ENST00000392133.3	+	14	1745	c.1284A>C	c.(1282-1284)gaA>gaC	p.E428D	XRCC5_ENST00000392132.2_Missense_Mutation_p.E428D|XRCC5_ENST00000471649.1_3'UTR			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	428	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CTTTCATGGAAGACTTGCGGC	0.368								Non-homologous end-joining					11	15					0	0	0	0	C	217002844	A	C	217002844	3	2	297	1	0	0	0	0	1	0	0	0	17552	69	3	5	1330	5	XRCC5	2	217002844	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	37398444	217002844	26196529	38	53152											
OBSL1	23363	broad.mit.edu	37	chr2	220417282	220417282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcggatgcggacgcgggCtccgggtctcagcgggcggc	3	6	19	13	7	1	0	1	0	1	0	4	2	2	2	1	6	2	1	1	6	0	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:220417282C>T	ENST00000404537.1	-	18	5340	c.5284G>A	c.(5284-5286)Gcc>Acc	p.A1762T	OBSL1_ENST00000373876.1_Missense_Mutation_p.A1670T|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1762					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGGACGCGGGCTCCGGGTCTC	0.731													6	15					0	0	0	0	T	220417282	C	T	220417282	3	4	297	1	0	0	0	0	1	0	0	0	10884	797	28	4	422	4	OBSL1	2	220417282	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	3414438	220417282	22782091	39	53153											
OBSL1	23363	broad.mit.edu	37	chr2	220424011	220424011	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catacaaactcgcccccgtcCtcgggctgagcagcaggtag	9	6	11	15	3	0	1	0	1	0	0	3	1	1	1	3	2	4	4	3	2	3	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:220424011C>T	ENST00000404537.1	-	9	3218	c.3162G>A	c.(3160-3162)gaG>gaA	p.E1054E	OBSL1_ENST00000373876.1_Silent_p.E1054E|OBSL1_ENST00000603926.1_Silent_p.E1054E|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_Silent_p.E1054E|OBSL1_ENST00000265317.5_Silent_p.E45E	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1054	Ig-like 8.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGCCCCCGTCCTCGGGCTGAG	0.617													31	109					0	0	0	0	T	220424011	C	T	220424011	2	4	297	1	0	0	0	0	0	0	0	1	10884	680	24	4		4	OBSL1	2	220424011	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	6729	220424011	22775362	40	53154											
SLC19A3	80704	broad.mit.edu	37	chr2	228563937	228563937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaaagtacgacatgttcGccagggataccaagagttga	14	8	12	7	2	0	2	0	1	0	1	1	4	0	3	2	2	2	4	2	2	5	5	rs144223086	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:228563937G>A	ENST00000258403.3	-	3	565	c.494C>T	c.(493-495)gCg>gTg	p.A165V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.A161V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	165					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CGACATGTTCGCCAGGGATAC	0.542													48	90					0	0	0	0	A	228563937	G	A	228563937	3	1	297	1	0	0	0	0	1	0	0	0	14518	1087	38	1	1012	1	SLC19A3	2	228563937	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	8139926	228563937	14635436	41	53155											
ALPI	248	broad.mit.edu	37	chr2	233321697	233321697	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccaacttccagaccatcgGcttgagtgcagccgcccgct	7	7	11	16	3	0	2	0	1	0	1	2	2	1	2	5	2	3	3	5	2	1	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:233321697G>C	ENST00000295463.3	+	4	466	c.389G>C	c.(388-390)gGc>gCc	p.G130A		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	130					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAGACCATCGGCTTGAGTGCA	0.617													3	34					0	0	0	0	C	233321697	G	C	233321697	3	2	297	1	0	0	0	0	1	0	0	0	543	1203	42	4	403	4	ALPI	2	233321697	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	4757760	233321697	9877676	42	53156											
SH3BP4	23677	broad.mit.edu	37	chr2	235949783	235949783	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacactgagtgacagcggtAtgattgataatcttccagac	13	10	9	9	1	1	5	0	4	1	1	2	5	2	5	1	1	2	1	1	1	3	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:235949783A>G	ENST00000409212.1	+	4	877	c.370A>G	c.(370-372)Atg>Gtg	p.M124V	SH3BP4_ENST00000392011.2_Missense_Mutation_p.M124V|SH3BP4_ENST00000344528.4_Missense_Mutation_p.M124V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	124					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGACAGCGGTATGATTGATAA	0.527													17	41					0	0	0	0	G	235949783	A	G	235949783	3	3	297	1	0	0	0	0	1	0	0	0	14333	449	16	5	376	5	SH3BP4	2	235949783	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	2628086	235949783	7249590	43	53157											
KIF1A	547	broad.mit.edu	37	chr2	241657475	241657475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggcggccctaccgtatggtCccggccaggagggggttgaa	7	6	17	11	3	0	1	0	1	0	0	1	2	1	2	4	7	1	2	4	7	3	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:241657475C>T	ENST00000498729.2	-	48	5571	c.5325G>A	c.(5323-5325)ggG>ggA	p.G1775G	KIF1A_ENST00000320389.7_Silent_p.G1674G	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1674					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACCGTATGGTCCCGGCCAGGA	0.667													4	14					0	0	0	0	T	241657475	C	T	241657475	2	4	297	1	0	0	0	0	0	0	0	1	8334	842	30	2		2	KIF1A	2	241657475	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	5707692	241657475	1541898	44	53158											
XYLB	9942	broad.mit.edu	37	chr3	38442394	38442394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttctaggtcttgcaggtgGaacagatgtgcccttttcag	7	13	11	10	0	3	1	1	0	2	1	3	2	3	2	2	3	3	1	2	3	2	5			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:38442394G>A	ENST00000207870.3	+	18	1541	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	XYLB_ENST00000542835.1_Missense_Mutation_p.G347E|XYLB_ENST00000472721.1_3'UTR	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	484					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CTTGCAGGTGGAACAGATGTG	0.502													22	21					0	0	0	0	A	38442394	G	A	38442394	3	1	297	1	0	0	0	0	1	0	0	0	17558	1174	41	2	1521	2	XYLB	3	38442394	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08		38442394	159580036	45	53159											
AMIGO3	386724	broad.mit.edu	37	chr3	49756364	49756364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgggtggcgctcagacCgtgcaggtggtcgaaggaga	8	6	19	8	3	1	2	1	0	0	2	2	4	1	2	1	6	1	2	1	6	1	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:49756364C>T	ENST00000535833.1	-	10	3985	c.535G>A	c.(535-537)Ggt>Agt	p.G179S	AMIGO3_ENST00000320431.7_Missense_Mutation_p.G179S|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_Intron|GMPPB_ENST00000480687.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	179					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGCTCAGACCGTGCAGGTGG	0.642											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	29					0	0	0	0	T	49756364	C	T	49756364	3	4	297	1	0	0	0	0	1	0	0	0	577	652	23	1	983	1	AMIGO3	3	49756364	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	11313970	49756364	148266066	46	53160											
CACNA1D	776	broad.mit.edu	37	chr3	53842766	53842766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccatcttcccccatcgcaCggccctgcctctgcatctaa	6	10	5	20	2	3	0	0	0	3	0	6	0	5	0	5	1	2	2	5	1	1	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:53842766C>T	ENST00000288139.3	+	47	6018	c.5900C>T	c.(5899-5901)aCg>aTg	p.T1967M	CACNA1D_ENST00000544977.1_Missense_Mutation_p.T326M|CACNA1D_ENST00000422281.2_Missense_Mutation_p.T1923M|CACNA1D_ENST00000350061.5_Missense_Mutation_p.T1947M	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1947					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T1967M(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCCCATCGCACGGCCCTGCCT	0.642													9	60					0	0	0	0	T	53842766	C	T	53842766	3	4	297	1	0	0	0	0	1	0	0	0	2566	536	19	1	6194	1	CACNA1D	3	53842766	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	4086402	53842766	144179664	47	53161											
MBNL1	4154	broad.mit.edu	37	chr3	152163264	152163264	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatttgcaagccaagatcaAggctgcccaataccaggtca	14	7	8	12	0	2	1	2	0	0	1	2	1	2	1	3	2	4	2	3	2	5	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:152163264A>C	ENST00000282486.6	+	5	2585	c.743A>C	c.(742-744)aAg>aCg	p.K248T	MBNL1_ENST00000485509.1_Missense_Mutation_p.K248T|MBNL1_ENST00000324210.5_Missense_Mutation_p.K248T|MBNL1_ENST00000463374.1_Missense_Mutation_p.K248T|MBNL1_ENST00000498502.1_Missense_Mutation_p.K248T|MBNL1_ENST00000355460.2_Missense_Mutation_p.K248T|MBNL1_ENST00000545754.1_Missense_Mutation_p.K180T|MBNL1_ENST00000357472.3_Missense_Mutation_p.K248T|MBNL1_ENST00000493459.1_Missense_Mutation_p.K191T|MBNL1_ENST00000492948.1_Missense_Mutation_p.K248T|MBNL1_ENST00000324196.5_Missense_Mutation_p.K248T|MBNL1_ENST00000282488.7_Missense_Mutation_p.K180T|MBNL1_ENST00000485910.1_Missense_Mutation_p.K180T			Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	248					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCCAAGATCAAGGCTGCCCAA	0.512													137	138					0	0	0	0	C	152163264	A	C	152163264	3	2	297	1	0	0	0	0	1	0	0	0	9422	72	3	5	757	5	MBNL1	3	152163264	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	98320498	152163264	45859166	48	53162											
MECOM	2122	broad.mit.edu	37	chr3	168807903	168807903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcctgtttttccagtaaTatcattgtcttcatcctcct	6	20	3	12	0	3	0	2	0	1	0	7	0	7	0	4	0	0	2	4	0	2	7			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:168807903T>C	ENST00000464456.1	-	13	3895	c.2695A>G	c.(2695-2697)Att>Gtt	p.I899V	MECOM_ENST00000494292.1_Missense_Mutation_p.I1087V|MECOM_ENST00000472280.1_Missense_Mutation_p.I909V|MECOM_ENST00000468789.1_Missense_Mutation_p.I908V|MECOM_ENST00000264674.3_Missense_Mutation_p.I973V|MECOM_ENST00000460814.1_Missense_Mutation_p.I899V|MECOM_ENST00000433243.2_Missense_Mutation_p.I909V|MECOM_ENST00000392736.3_Missense_Mutation_p.I908V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTCCAGTAATATCATTGTCT	0.408													35	199					0	0	0	0	C	168807903	T	C	168807903	3	2	297	1	0	0	0	0	1	0	0	0	9491	1406	49	5	445	5	MECOM	3	168807903	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	16644639	168807903	29214527	49	53163											
ADIPOQ	9370	broad.mit.edu	37	chr3	186571026	186571026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggccgtgatggcagagatgGcacccctggtgagaagggtg	9	6	18	8	1	0	3	0	2	0	2	0	5	0	3	3	5	0	2	3	5	1	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:186571026G>A	ENST00000412955.2	+	2	320	c.179G>A	c.(178-180)gGc>gAc	p.G60D	ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G60D|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G60D			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	60	Collagen-like.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GGCAGAGATGGCACCCCTGGT	0.567													9	52					0	0	0	0	A	186571026	G	A	186571026	3	1	297	1	0	0	0	0	1	0	0	0	317	1203	42	4	181	4	ADIPOQ	3	186571026	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	17763123	186571026	11451404	50	53164											
LRRC15	131578	broad.mit.edu	37	chr3	194081062	194081062	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgttgtggaagagaccaggGgagagcagtccaatctggtt	10	10	15	6	0	1	2	0	0	1	2	2	5	2	3	2	4	1	3	2	4	2	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:194081062G>A	ENST00000347624.3	-	2	796	c.711C>T	c.(709-711)tcC>tcT	p.S237S	LRRC15_ENST00000428839.1_Silent_p.S243S|LRRC15_ENST00000439944.2_Silent_p.S243S	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	237						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGAGACCAGGGGAGAGCAGTC	0.552													5	202					0	0	0	0	A	194081062	G	A	194081062	2	1	297	1	0	0	0	0	0	0	0	1	9034	1219	43	4		4	LRRC15	3	194081062	Silent	SNP	G	TCGA-CV-7253-01A-11D-2012-08	7510036	194081062	3941368	51	53165											
GRSF1	2926	broad.mit.edu	37	chr4	71698926	71698926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atttcaattaaggcatcaccCcttcgtttcccatctctgtt	8	16	4	13	1	3	0	2	0	1	0	6	0	4	0	3	1	0	3	3	1	2	5			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:71698926C>T	ENST00000254799.6	-	3	696	c.579G>A	c.(577-579)agG>agA	p.R193R	GRSF1_ENST00000439371.1_Silent_p.R31R|GRSF1_ENST00000545193.1_Silent_p.R75R|GRSF1_ENST00000502323.1_Silent_p.R31R|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	193	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AGGCATCACCCCTTCGTTTCC	0.438													18	61					0	0	0	0	T	71698926	C	T	71698926	2	4	297	1	0	0	0	0	0	0	0	1	6859	622	22	4		4	GRSF1	4	71698926	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08		71698926	119455350	52	53166											
SLC4A4	8671	broad.mit.edu	37	chr4	72222834	72222834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcaaaccaagaaatccaaCcttcggtccctggctgacat	13	8	6	14	1	1	2	1	1	0	1	4	2	3	2	4	2	2	1	4	2	4	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:72222834C>A	ENST00000340595.3	+	3	724	c.528C>A	c.(526-528)aaC>aaA	p.N176K	SLC4A4_ENST00000264485.5_Missense_Mutation_p.N220K|SLC4A4_ENST00000512686.1_Missense_Mutation_p.N176K|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.N220K|SLC4A4_ENST00000425175.1_Missense_Mutation_p.N220K	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	220						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGAAATCCAACCTTCGGTCCC	0.483													23	88					4.72057e-08	5.44841e-08	1	0	A	72222834	C	A	72222834	3	1	297	1	0	0	0	0	1	0	0	0	14744	506	18	4	799	4	SLC4A4	4	72222834	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	523908	72222834	118931442	53	53167											
SHROOM3	57619	broad.mit.edu	37	chr4	77662554	77662554	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctcagcctgtcggggccCgagctgaagcagttccagca	8	6	13	14	3	1	1	1	1	0	0	3	2	2	1	3	2	4	5	3	2	1	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:77662554C>T	ENST00000296043.6	+	5	4181	c.3228C>T	c.(3226-3228)ccC>ccT	p.P1076P		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1076					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGTCGGGGCCCGAGCTGAAGC	0.692													10	9					0	0	0	0	T	77662554	C	T	77662554	2	4	297	1	0	0	0	0	0	0	0	1	14383	639	23	1		1	SHROOM3	4	77662554	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	5439720	77662554	113491722	54	53168											
PCDH18	54510	broad.mit.edu	37	chr4	138451312	138451312	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtagggaacagaatccAtgctaacgttggtatggatg	11	11	13	6	1	0	1	0	0	0	1	1	3	1	3	1	3	3	4	1	3	5	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:138451312A>C	ENST00000344876.4	-	1	2317	c.1931T>G	c.(1930-1932)aTg>aGg	p.M644R	PCDH18_ENST00000507846.1_Missense_Mutation_p.M424R|PCDH18_ENST00000412923.2_Missense_Mutation_p.M644R|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	644	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AACAGAATCCATGCTAACGTT	0.438													4	185					0	0	0	0	C	138451312	A	C	138451312	3	2	297	1	0	0	0	0	1	0	0	0	11584	217	8	5	1492	5	PCDH18	4	138451312	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	60788758	138451312	52702964	55	53169											
CMBL	134147	broad.mit.edu	37	chr5	10286575	10286580	+	In_Frame_Del	DEL	TTGTTT	TTGTTT	-																															attttctgggcatgacactgTtgtttcagatacttcaagat																										TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:10286575_10286580delTTGTTT	ENST00000296658.3	-	4	772_777	c.352_357delAAACAA	c.(352-357)del	p.KQ118del	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	118						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CATGACACTGTTGTTTCAGATACTTC	0.422													7	31	---	---	---	---					-	10286580	TTGTTT	-	10286575	7	5	297	1	0	1	0	1	0	0	0	0	3606	1722	60	0	392	0	CMBL	5	10286575	In_Frame_Del	DEL	TTGTTT	TCGA-CV-7253-01A-11D-2012-08		10286575	170628685	56	53170											
CDH12	1010	broad.mit.edu	37	chr5	21975279	21975279	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatcattaatatcctgcacTttgatgatgaattctgattc	11	18	5	7	0	2	4	1	4	1	0	4	4	3	4	1	0	1	1	1	0	4	6			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:21975279T>A	ENST00000382254.1	-	6	1533	c.447A>T	c.(445-447)aaA>aaT	p.K149N	CDH12_ENST00000522262.1_Missense_Mutation_p.K149N|CDH12_ENST00000504376.2_Missense_Mutation_p.K149N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	149	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TATCCTGCACTTTGATGATGA	0.423										HNSCC(59;0.17)			5	77					0	0	0	0	A	21975279	T	A	21975279	3	1	297	1	0	0	0	0	1	0	0	0	3127	1606	56	5	1977	5	CDH12	5	21975279	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	11688704	21975279	158939981	57	53171											
PRDM9	56979	broad.mit.edu	37	chr5	23522937	23522937	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggtctgcactttggcccTtatgagggccgaattacaga	8	11	12	10	1	1	2	0	1	1	1	1	3	1	2	2	3	2	1	2	3	3	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:23522937T>C	ENST00000296682.3	+	8	1007	c.825T>C	c.(823-825)ccT>ccC	p.P275P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	275	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACTTTGGCCCTTATGAGGGCC	0.557										HNSCC(3;0.000094)			3	84					0	0	0	0	C	23522937	T	C	23522937	2	2	297	1	0	0	0	0	0	0	0	1	12543	1596	56	5		5	PRDM9	5	23522937	Silent	SNP	T	TCGA-CV-7253-01A-11D-2012-08	1547658	23522937	157392323	58	53172											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576945	33576945	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccactgtttcccaccCaggtctccttctttggaggc	4	14	8	15	0	3	0	0	0	3	0	5	1	4	1	4	3	1	1	4	3	0	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:33576945C>T	ENST00000504830.1	-	19	3521	c.3186G>A	c.(3184-3186)ctG>ctA	p.L1062L	ADAMTS12_ENST00000352040.3_Silent_p.L977L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1062	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTTTCCCACCCAGGTCTCCTT	0.547										HNSCC(64;0.19)			29	49					0	0	0	0	T	33576945	C	T	33576945	2	4	297	1	0	0	0	0	0	0	0	1	257	581	21	4		4	ADAMTS12	5	33576945	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	10054008	33576945	147338315	59	53173											
TTC23L	153657	broad.mit.edu	37	chr5	34880347	34880347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagcaacattgggctcagaGgattttgaaacactgagcac	13	8	11	9	1	1	3	1	2	0	1	1	5	1	4	0	2	4	3	0	2	2	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:34880347G>T	ENST00000505624.1	+	9	1114	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	337							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TGGGCTCAGAGGATTTTGAAA	0.348													12	31					1.08611e-07	1.24262e-07	1	0	T	34880347	G	T	34880347	3	4	297	1	0	0	0	0	1	0	0	0	16787	991	35	4	1041	4	TTC23L	5	34880347	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	1303402	34880347	146034913	60	53174											
ESM1	11082	broad.mit.edu	37	chr5	54277890	54277890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaaggggaatttcaggCattttcccgtccccctgtca	9	10	11	11	1	2	1	2	0	0	1	4	3	4	3	3	4	0	1	3	4	3	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:54277890C>T	ENST00000381405.4	-	2	531	c.386G>A	c.(385-387)tGc>tAc	p.C129Y	ESM1_ENST00000381403.4_Intron|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	129					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GAATTTCAGGCATTTTCCCGT	0.483													30	36					0	0	0	0	T	54277890	C	T	54277890	3	4	297	1	0	0	0	0	1	0	0	0	5290	710	25	4	176	4	ESM1	5	54277890	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	19397543	54277890	126637370	61	53175											
TMEM174	134288	broad.mit.edu	37	chr5	72469320	72469320	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgtcagttggggtgAcattcatcctgattgctgtg	5	15	12	9	0	2	2	2	2	0	0	4	2	4	2	2	2	2	3	2	2	0	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:72469320A>T	ENST00000296776.5	+	1	299	c.250A>T	c.(250-252)Aca>Tca	p.T84S	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	84						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		AGTTGGGGTGACATTCATCCT	0.532													46	85					0	0	0	0	T	72469320	A	T	72469320	3	4	297	1	0	0	0	0	1	0	0	0	16184	275	10	5	252	5	TMEM174	5	72469320	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	18191430	72469320	108445940	62	53176											
ARSK	153642	broad.mit.edu	37	chr5	94936601	94936601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagtggatactctttgttgCcgttatcatcagaaacattt	10	16	8	7	1	3	2	2	1	1	1	3	3	3	3	1	1	3	2	1	1	3	5			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:94936601C>T	ENST00000380009.4	+	7	1352	c.1147C>T	c.(1147-1149)Ccg>Tcg	p.P383S		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	383						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CTCTTTGTTGCCGTTATCATC	0.358													21	36					0	0	0	0	T	94936601	C	T	94936601	3	4	297	1	0	0	0	0	1	0	0	0	1000	739	26	4	1173	4	ARSK	5	94936601	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	22467281	94936601	85978659	63	53177											
DMXL1	1657	broad.mit.edu	37	chr5	118445852	118445852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattttttttaggcagtcGtcttttaactggttccagct	8	19	7	7	1	1	0	0	0	1	0	3	0	2	0	1	2	2	3	1	2	4	8	rs141228194		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:118445852G>A	ENST00000311085.8	+	5	451	c.371G>A	c.(370-372)cGt>cAt	p.R124H	DMXL1_ENST00000539542.1_Missense_Mutation_p.R124H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	124										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTAGGCAGTCGTCTTTTAACT	0.284													7	17					0	0	0	0	A	118445852	G	A	118445852	3	1	297	1	0	0	0	0	1	0	0	0	4631	1145	40	1	389	1	DMXL1	5	118445852	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	23509251	118445852	62469408	64	53178											
ZNF608	57507	broad.mit.edu	37	chr5	124080411	124080411	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaattcccctggggagcaGaggcctgaacagaagcaaat	13	6	13	9	0	0	4	0	2	0	2	1	5	1	5	3	3	3	2	3	3	4	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:124080411G>C	ENST00000306315.5	-	1	707	c.272C>G	c.(271-273)tCt>tGt	p.S91C		NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	91						intracellular	zinc ion binding	p.S91F(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGGGGAGCAGAGGCCTGAAC	0.498													4	61					0	0	0	0	C	124080411	G	C	124080411	3	2	297	1	0	0	0	0	1	0	0	0	18129	942	33	2	4302	2	ZNF608	5	124080411	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	5634559	124080411	56834849	65	53179											
ADAMTS19	171019	broad.mit.edu	37	chr5	128983577	128983577	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatcagcagtcgagagcgCaaatgtcctgggtaaactca	12	7	13	9	2	2	1	2	0	0	1	4	3	3	2	1	2	3	3	1	2	3	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:128983577C>T	ENST00000274487.4	+	12	2119	c.1974C>T	c.(1972-1974)cgC>cgT	p.R658R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	658	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTCGAGAGCGCAAATGTCCTG	0.507													43	91					0	0	0	0	T	128983577	C	T	128983577	2	4	297	1	0	0	0	0	0	0	0	1	264	697	25	4		4	ADAMTS19	5	128983577	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	4903166	128983577	51931683	66	53180											
RAPGEF6	51735	broad.mit.edu	37	chr5	130897676	130897676	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaagttcttaccacaaTcatttctgaaggctctaata	13	15	4	9	0	4	1	1	1	3	0	4	1	4	1	1	1	1	2	1	1	7	7			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:130897676T>A	ENST00000509018.1	-	5	551	c.346A>T	c.(346-348)Att>Ttt	p.I116F	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.I116F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.I116F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.I116F|FNIP1_ENST00000514667.1_Missense_Mutation_p.I166F|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.I116F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.I116F|RAPGEF6_ENST00000503398.2_Intron	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	116					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTTACCACAATCATTTCTGAA	0.303													14	43					0	0	0	0	A	130897676	T	A	130897676	3	1	297	1	0	0	0	0	1	0	0	0	13130	1435	50	5	5041	5	RAPGEF6	5	130897676	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	1914099	130897676	50017584	67	53181											
PCDHB16	57717	broad.mit.edu	37	chr5	140564246	140564246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgctcttcctcttttcGgtgctcctgttcgtggcggt	0	17	11	13	5	2	0	0	0	2	0	8	0	4	0	2	3	1	3	2	3	0	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:140564246G>A	ENST00000361016.2	+	1	3267	c.2112G>A	c.(2110-2112)tcG>tcA	p.S704S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCTTTTCGGTGCTCCTGT	0.697													16	274					0	0	0	0	A	140564246	G	A	140564246	2	1	297	1	0	0	0	0	0	0	0	1	11612	1103	39	1		1	PCDHB16	5	140564246	Silent	SNP	G	TCGA-CV-7253-01A-11D-2012-08	9666570	140564246	40351014	68	53182											
GABRB2	2561	broad.mit.edu	37	chr5	160758103	160758103	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttcccggaggtgggtgttGattgtggtcattgtgaggac	5	14	17	5	1	1	2	1	2	0	0	2	4	2	4	1	5	0	2	1	5	0	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:160758103G>C	ENST00000274547.2	-	9	1081	c.864C>G	c.(862-864)atC>atG	p.I288M	GABRB2_ENST00000520240.1_Missense_Mutation_p.I288M|GABRB2_ENST00000393959.1_Missense_Mutation_p.I288M|GABRB2_ENST00000353437.6_Missense_Mutation_p.I288M|GABRB2_ENST00000517901.1_Missense_Mutation_p.I225M|GABRB2_ENST00000517547.1_Missense_Mutation_p.I128M	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	288					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGTGGGTGTTGATTGTGGTCA	0.428													46	81					0	0	0	0	C	160758103	G	C	160758103	3	2	297	1	0	0	0	0	1	0	0	0	6215	1280	45	2	686	2	GABRB2	5	160758103	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	20193857	160758103	20157157	69	53183											
NSD1	64324	broad.mit.edu	37	chr5	176638656	176638662	+	Frame_Shift_Del	DEL	AGTAAAG	AGTAAAG	-																															gaggtggggcagaagatcctAgtaaagaggatccccttcag																										TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:176638656_176638662delAGTAAAG	ENST00000439151.2	+	5	3301_3307	c.3256_3262delAGTAAAG	c.(3256-3264)agfs	p.SKE1086fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.SKE817fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.SKE983fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.SKE817fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1086					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAAGATCCTAGTAAAGAGGATCCCCT	0.449			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			66	24	---	---	---	---					-	176638662	AGTAAAG	-	176638656	7	5	297	1	0	1	0	1	0	0	0	0	10740	420	15	0	3270	0	NSD1	5	176638656	Frame_Shift_Del	DEL	AGTAAAG	TCGA-CV-7253-01A-11D-2012-08	15880553	176638656	4276604	70	53184											
GFOD1	54438	broad.mit.edu	37	chr6	13365330	13365330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagcagctcctgctccGgggcgctgttgcgctgcccg	3	7	14	17	4	0	0	0	0	0	0	2	0	2	0	4	2	5	7	4	2	0	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:13365330G>A	ENST00000379287.3	-	2	1482	c.818C>T	c.(817-819)cCg>cTg	p.P273L	GFOD1_ENST00000379284.1_Missense_Mutation_p.P170L	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	273						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CTCCTGCTCCGGGGCGCTGTT	0.697													32	16					0	0	0	0	A	13365330	G	A	13365330	3	1	297	1	0	0	0	0	1	0	0	0	6394	1116	39	1	358	1	GFOD1	6	13365330	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08		13365330	157749737	71	53185											
TNXB	7148	broad.mit.edu	37	chr6	32041664	32041664	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtcacatctgtcactgTcagctctcctaggcgtggct	5	11	13	12	1	5	0	3	0	2	0	6	0	5	0	1	4	1	2	1	4	1	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:32041664T>C	ENST00000375244.3	-	12	4642	c.4441A>G	c.(4441-4443)Aca>Gca	p.T1481A	TNXB_ENST00000375247.2_Missense_Mutation_p.T1481A			P22105	TENX_HUMAN	tenascin XB	1568	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTGTCACTGTCAGCTCTCCT	0.587													4	14					0	0	0	0	C	32041664	T	C	32041664	3	2	297	1	0	0	0	0	1	0	0	0	16440	1667	58	5	10404	5	TNXB	6	32041664	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	18676334	32041664	139073403	72	53186											
TCP11	6954	broad.mit.edu	37	chr6	35088707	35088707	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggctgcttattgaggagttCctggaatttagcccgttcat	8	14	11	8	1	1	1	1	1	0	0	2	3	2	3	2	3	2	4	2	3	3	6			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:35088707C>A	ENST00000311875.5	-	6	1150	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	TCP11_ENST00000412155.2_Nonsense_Mutation_p.E194*|TCP11_ENST00000244645.3_Nonsense_Mutation_p.E170*|TCP11_ENST00000444780.2_Nonsense_Mutation_p.E240*|TCP11_ENST00000512012.1_Nonsense_Mutation_p.E232*|TCP11_ENST00000373974.4_Nonsense_Mutation_p.E199*|TCP11_ENST00000373979.2_Nonsense_Mutation_p.E170*|TCP11_ENST00000418521.2_Nonsense_Mutation_p.E169*			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	232					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTGAGGAGTTCCTGGAATTTA	0.443													94	276					1.40862e-40	1.86393e-40	1	0	A	35088707	C	A	35088707	4	1	297	1	0	0	0	0	0	1	0	0	15807	864	30	2	837	2	TCP11	6	35088707	Nonsense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	3047043	35088707	136026360	73	53187											
DNAH8	1769	broad.mit.edu	37	chr6	38843395	38843395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttctggaagggttaattcCctccaaagaagaaggcggtg	11	10	12	8	1	2	2	0	0	2	2	4	3	4	3	2	4	0	1	2	4	5	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:38843395C>T	ENST00000359357.3	+	51	7252	c.6998C>T	c.(6997-6999)cCc>cTc	p.P2333L	DNAH8_ENST00000441566.1_Missense_Mutation_p.P2297L|DNAH8_ENST00000449981.2_Missense_Mutation_p.P2550L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGTTAATTCCCTCCAAAGAA	0.303													24	5					0	0	0	0	T	38843395	C	T	38843395	3	4	297	1	0	0	0	0	1	0	0	0	4643	623	22	4	7192	4	DNAH8	6	38843395	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	3754688	38843395	132271672	74	53188											
BYSL	705	broad.mit.edu	37	chr6	41899233	41899233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgctgaatacaaacgactCaacttccatctctacatggc	12	11	6	12	1	2	1	1	1	1	0	4	2	3	1	1	1	5	2	1	1	5	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:41899233C>T	ENST00000230340.4	+	5	1179	c.804C>T	c.(802-804)ctC>ctT	p.L268L		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	268					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACAAACGACTCAACTTCCATC	0.522													31	80					0	0	0	0	T	41899233	C	T	41899233	2	4	297	1	0	0	0	0	0	0	0	1	1585	813	29	2		2	BYSL	6	41899233	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	3055838	41899233	129215834	75	53189											
RSPH9	221421	broad.mit.edu	37	chr6	43618143	43618143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagtggagcctcttgcccCctgccacagaggagatggtg	8	7	14	12	0	1	3	0	0	1	3	1	5	1	4	4	3	3	0	4	3	0	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:43618143C>A	ENST00000372165.4	+	2	312	c.259C>A	c.(259-261)Cct>Act	p.P87T	RSPH9_ENST00000372163.4_Missense_Mutation_p.P87T	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	87					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCTCTTGCCCCCTGCCACAGA	0.537									Kartagener syndrome				14	81					0.000151284	0.000165152	1	0	A	43618143	C	A	43618143	3	1	297	1	0	0	0	0	1	0	0	0	13793	623	22	4	265	4	RSPH9	6	43618143	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	1718910	43618143	127496924	76	53190											
HMGCLL1	54511	broad.mit.edu	37	chr6	55304315	55304315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttttgcataagggcagcCacctaatccggatactgcgg	10	9	10	12	2	0	0	0	0	0	0	1	1	1	1	4	3	4	2	4	3	3	5			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:55304315C>T	ENST00000398661.2	-	9	1059	c.928G>A	c.(928-930)Ggc>Agc	p.G310S	HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G177S|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G248S|HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.G114S|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G280S	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	310							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TAAGGGCAGCCACCTAATCCG	0.428													38	41					0	0	0	0	T	55304315	C	T	55304315	3	4	297	1	0	0	0	0	1	0	0	0	7280	594	21	4	192	4	HMGCLL1	6	55304315	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	11686172	55304315	115810752	77	53191											
ZNF451	26036	broad.mit.edu	37	chr6	56997899	56997899	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccgaagaggaggccacAcgtgggtgtctgggaaacca	11	6	14	10	2	1	1	0	0	1	1	2	4	2	3	3	4	1	0	3	4	2	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:56997899A>C	ENST00000370706.4	+	6	728	c.484A>C	c.(484-486)Acg>Ccg	p.T162P	RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.T162P|ZNF451_ENST00000357489.3_Missense_Mutation_p.T162P|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGGAGGCCACACGTGGGTGTC	0.393													15	47					0	0	0	0	C	56997899	A	C	56997899	3	2	297	1	0	0	0	0	1	0	0	0	18017	159	6	5	506	5	ZNF451	6	56997899	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	1693584	56997899	114117168	78	53192											
MANEA	79694	broad.mit.edu	37	chr6	96053864	96053864	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggaatttacacatatttTgccacaaatggctttactta	13	15	6	7	0	0	0	0	0	0	0	0	2	0	1	1	2	3	1	1	2	6	8			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:96053864T>C	ENST00000358812.4	+	5	1106	c.972T>C	c.(970-972)ttT>ttC	p.F324F	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	324	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ACACATATTTTGCCACAAATG	0.343													17	12					0	0	0	0	C	96053864	T	C	96053864	2	2	297	1	0	0	0	0	0	0	0	1	9290	1809	63	5		5	MANEA	6	96053864	Silent	SNP	T	TCGA-CV-7253-01A-11D-2012-08	39055965	96053864	75061203	79	53193											
USP45	85015	broad.mit.edu	37	chr6	99883592	99883592	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataatcattaccattaatagTtataatactctttcatagaa	17	16	2	6	0	3	1	2	0	1	1	3	1	3	1	1	0	2	1	1	0	9	9			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:99883592T>C	ENST00000327681.6	-	18	2977	c.2445A>G	c.(2443-2445)taA>taG	p.*815*	USP45_ENST00000500704.2_Silent_p.*815*|USP45_ENST00000539675.1_Silent_p.*108*|USP45_ENST00000369233.2_Silent_p.*767*|USP45_ENST00000392738.2_Silent_p.*495*	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	0					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CCATTAATAGTTATAATACTC	0.363													18	12					0	0	0	0	C	99883592	T	C	99883592	2	2	297	1	0	0	0	0	0	0	0	1	17172	1732	60	5		5	USP45	6	99883592	Silent	SNP	T	TCGA-CV-7253-01A-11D-2012-08	3829728	99883592	71231475	80	53194											
OSTM1	28962	broad.mit.edu	37	chr6	108395812	108395812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccagcggcagccacggcGgcaacgaacacctccgctgc	8	2	12	19	5	0	0	0	0	0	0	1	1	1	0	5	3	5	3	5	3	2	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:108395812G>T	ENST00000193322.3	-	1	129	c.44C>A	c.(43-45)cCg>cAg	p.P15Q		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	15						integral to membrane				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		CAGCCACGGCGGCAACGAACA	0.751													6	6					8.12818e-05	8.94783e-05	1	0	T	108395812	G	T	108395812	3	4	297	1	0	0	0	0	1	0	0	0	11369	1116	39	3	984	3	OSTM1	6	108395812	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	8512220	108395812	62719255	81	53195											
C6orf58	352999	broad.mit.edu	37	chr6	127911377	127911377	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccacgaattcttcttaatActgatgtagcccctttcatc	10	14	4	13	1	3	1	1	1	2	0	4	2	3	1	3	0	2	1	3	0	4	6			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:127911377A>G	ENST00000329722.7	+	5	832	c.820A>G	c.(820-822)Act>Gct	p.T274A		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	274						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TCTTCTTAATACTGATGTAGC	0.398													51	38					0	0	0	0	G	127911377	A	G	127911377	3	3	297	1	0	0	0	0	1	0	0	0	2389	391	14	5	838	5	C6orf58	6	127911377	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	19515565	127911377	43203690	82	53196											
RAET1G	353091	broad.mit.edu	37	chr6	150240749	150240749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgtaagtatgtccaccaCctctctcagtactgggttct	7	14	7	13	0	4	0	1	0	3	0	6	0	5	0	3	1	1	4	3	1	3	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:150240749C>A	ENST00000367360.2	-	2	356	c.289G>T	c.(289-291)Gtg>Ttg	p.V97L	RAET1G_ENST00000479265.1_Missense_Mutation_p.V97L	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	retinoic acid early transcript 1G	97	MHC class I alpha-1 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		ATGTCCACCACCTCTCTCAGT	0.507													45	129					3.05275e-18	3.86386e-18	1	0	A	150240749	C	A	150240749	3	1	297	1	0	0	0	0	1	0	0	0	13082	507	18	4	731	4	RAET1G	6	150240749	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	22329372	150240749	20874318	83	53197											
SYNE1	23345	broad.mit.edu	37	chr6	152542128	152542128	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctttgccaaagctgaagtAgggccttgctggactgtagc	9	11	12	9	0	1	1	0	1	1	0	1	2	1	2	2	2	4	4	2	2	4	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:152542128A>G	ENST00000367255.5	-	119	22311	c.21710T>C	c.(21709-21711)cTa>cCa	p.L7237P	SYNE1_ENST00000423061.1_Missense_Mutation_p.L7166P|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7166P|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7237P|SYNE1_ENST00000356820.4_Missense_Mutation_p.L1761P|SYNE1_ENST00000341594.5_Missense_Mutation_p.L6849P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7237					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGCTGAAGTAGGGCCTTGCT	0.478										HNSCC(10;0.0054)			24	40					0	0	0	0	G	152542128	A	G	152542128	3	3	297	1	0	0	0	0	1	0	0	0	15536	420	15	5	4868	5	SYNE1	6	152542128	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	2301379	152542128	18572939	84	53198											
ISPD	729920	broad.mit.edu	37	chr7	16415830	16415830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcagcagatggactgaCgacagtagatacaagaggtc	15	6	11	9	1	1	4	1	1	0	3	2	6	1	5	1	2	2	2	1	2	3	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:16415830C>T	ENST00000407010.2	-	3	570	c.571G>A	c.(571-573)Gtc>Atc	p.V191I	ISPD_ENST00000399310.3_Intron	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	191					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						GATGGACTGACGACAGTAGAT	0.418										Multiple Myeloma(15;0.18)			13	24					0	0	0	0	T	16415830	C	T	16415830	3	4	297	1	0	0	0	0	1	0	0	0	7917	536	19	1	816	1	ISPD	7	16415830	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08		16415830	142722833	85	53199											
CCDC129	223075	broad.mit.edu	37	chr7	31682803	31682803	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggaaatgatcatactcaaGacaagttccttcatgttgac	13	12	7	9	0	3	3	3	2	0	1	4	4	4	4	1	1	1	2	1	1	4	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:31682803G>C	ENST00000319386.3	+	11	2368	c.1375G>C	c.(1375-1377)Gac>Cac	p.D459H	CCDC129_ENST00000451887.2_Missense_Mutation_p.D633H|CCDC129_ENST00000409210.1_Missense_Mutation_p.D515H|CCDC129_ENST00000407970.3_Missense_Mutation_p.D607H			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	607										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCATACTCAAGACAAGTTCCT	0.493													42	95					0	0	0	0	C	31682803	G	C	31682803	3	2	297	1	0	0	0	0	1	0	0	0	2789	942	33	2	1857	2	CCDC129	7	31682803	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	15266973	31682803	127455860	86	53200											
ZNF117	51351	broad.mit.edu	37	chr7	64438979	64438979	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctccagtatgaattttttTatggtcagtaagatttgaaa	12	17	7	5	0	2	3	1	2	1	1	3	3	2	3	1	1	0	2	1	1	5	7			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:64438979T>A	ENST00000282869.5	-	4	2254	c.970A>T	c.(970-972)Aaa>Taa	p.K324*		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	324						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGAATTTTTTTATGGTCAGTA	0.353													23	39					0	0	0	0	A	64438979	T	A	64438979	4	1	297	1	0	0	0	0	0	1	0	0	17812	1763	61	5	485	5	ZNF117	7	64438979	Nonsense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	32756176	64438979	94699684	87	53201											
AUTS2	26053	broad.mit.edu	37	chr7	69064922	69064922	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatggatttgccatgaccAgctttgtcacttttgaagcg	8	15	10	8	1	1	3	1	3	0	0	1	4	1	4	2	1	3	1	2	1	1	5			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:69064922A>C	ENST00000342771.4	+	1	604	c.283A>C	c.(283-285)Agc>Cgc	p.S95R	AUTS2_ENST00000406775.2_Missense_Mutation_p.S95R|AUTS2_ENST00000403018.2_Missense_Mutation_p.S95R	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	95										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGCCATGACCAGCTTTGTCAC	0.657													8	25					0	0	0	0	C	69064922	A	C	69064922	3	2	297	1	0	0	0	0	1	0	0	0	1229	188	7	5	285	5	AUTS2	7	69064922	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	4625943	69064922	90073741	88	53202											
CROT	54677	broad.mit.edu	37	chr7	87022283	87022283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggaggaggtggaaattttGttctctcaacaagtctggtt	9	13	13	6	1	3	0	1	0	2	0	4	3	3	3	0	5	1	2	0	5	3	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:87022283G>T	ENST00000331536.3	+	17	1803	c.1618G>T	c.(1618-1620)Gtt>Ttt	p.V540F	CROT_ENST00000419147.2_Missense_Mutation_p.V568F|CROT_ENST00000442291.1_Missense_Mutation_p.V540F	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	540					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TGGAAATTTTGTTCTCTCAAC	0.383													44	62					1.41504e-22	1.80848e-22	1	0	T	87022283	G	T	87022283	3	4	297	1	0	0	0	0	1	0	0	0	3924	1377	48	4	1764	4	CROT	7	87022283	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	17957361	87022283	72116380	89	53203											
CUX1	1523	broad.mit.edu	37	chr7	101845472	101845472	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacggcatctgccagagaatCttcggggagaaggtaaggga	13	6	15	7	2	2	2	0	0	2	2	3	5	2	3	1	5	2	2	1	5	4	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:101845472C>A	ENST00000360264.3	+	18	2948	c.2928C>A	c.(2926-2928)atC>atA	p.I976I	CUX1_ENST00000549414.2_Silent_p.I943I|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Silent_p.I807I|CUX1_ENST00000550008.2_Silent_p.I909I|CUX1_ENST00000546411.2_Silent_p.I863I|CUX1_ENST00000292535.7_Silent_p.I965I|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	965					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCAGAGAATCTTCGGGGAGA	0.562													10	94					0.000442599	0.000481166	1	0	A	101845472	C	A	101845472	2	1	297	1	0	0	0	0	0	0	0	1	4096	903	32	2		2	CUX1	7	101845472	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	14823189	101845472	57293191	90	53204											
RELN	5649	broad.mit.edu	37	chr7	103123326	103123326	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatagatactcacaggacgAcctccacatggtccaaagcc	14	7	7	13	1	1	1	1	0	0	1	3	3	3	2	4	2	2	0	4	2	4	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:103123326A>G	ENST00000428762.1	-	63	10433	c.10274T>C	c.(10273-10275)gTc>gCc	p.V3425A	RELN_ENST00000473945.1_5'UTR|RELN_ENST00000424685.2_Missense_Mutation_p.V3425A|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.V3425A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3425					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCACAGGACGACCTCCACATG	0.473													19	62					0	0	0	0	G	103123326	A	G	103123326	3	3	297	1	0	0	0	0	1	0	0	0	13302	275	10	5	120	5	RELN	7	103123326	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	1277854	103123326	56015337	91	53205											
RELN	5649	broad.mit.edu	37	chr7	103163863	103163863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttccctggatgcatctccCatggccactgcacatgtcta	7	12	8	14	0	2	0	0	0	2	0	4	1	3	1	3	2	2	3	3	2	1	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:103163863C>T	ENST00000428762.1	-	47	7624	c.7465G>A	c.(7465-7467)Ggg>Agg	p.G2489R	RELN_ENST00000343529.5_Missense_Mutation_p.G2489R|RELN_ENST00000424685.2_Missense_Mutation_p.G2489R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2489	EGF-like 6.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGCATCTCCCATGGCCACTG	0.458													42	63					0	0	0	0	T	103163863	C	T	103163863	3	4	297	1	0	0	0	0	1	0	0	0	13302	594	21	4	2993	4	RELN	7	103163863	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	40537	103163863	55974800	92	53206											
CPA5	93979	broad.mit.edu	37	chr7	130008281	130008281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggatcaccgtcgactgggCctatgacagtggcatcaagt	9	9	13	10	2	2	1	2	1	0	0	3	3	2	2	2	3	0	1	2	3	2	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:130008281C>G	ENST00000485477.1	+	12	2283	c.1154C>G	c.(1153-1155)gCc>gGc	p.A385G	CPA5_ENST00000355388.3_Missense_Mutation_p.A385G|CPA5_ENST00000431780.2_Missense_Mutation_p.P357A|CPA5_ENST00000474905.1_Missense_Mutation_p.A385G|CPA5_ENST00000466363.2_Missense_Mutation_p.A385G|CPA5_ENST00000393213.3_Missense_Mutation_p.A385G|CPA5_ENST00000461828.1_Missense_Mutation_p.A385G			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	385					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GTCGACTGGGCCTATGACAGT	0.562													4	116					0	0	0	0	G	130008281	C	G	130008281	3	3	297	1	0	0	0	0	1	0	0	0	3823	739	26	4	1196	4	CPA5	7	130008281	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	26844418	130008281	29130382	93	53207											
WDR91	29062	broad.mit.edu	37	chr7	134878366	134878366	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatattgatttcacagagaTtcttcttggcttccgtgtca	8	17	8	8	1	4	3	2	2	2	1	5	4	5	3	1	1	0	1	1	1	1	7			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:134878366T>G	ENST00000354475.4	-	10	1485	c.1454A>C	c.(1453-1455)aAt>aCt	p.N485T	WDR91_ENST00000344400.5_Missense_Mutation_p.N485T|WDR91_ENST00000423565.1_Missense_Mutation_p.N450T	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	485										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTCACAGAGATTCTTCTTGGC	0.572													9	24					0	0	0	0	G	134878366	T	G	134878366	3	3	297	1	0	0	0	0	1	0	0	0	17434	1493	52	5	813	5	WDR91	7	134878366	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	4870085	134878366	24260297	94	53208											
GSTK1	373156	broad.mit.edu	37	chr7	142961250	142961250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctcataacagggatcatGaaagacagtggtaggaaggg	15	6	14	6	0	2	2	2	1	0	1	2	4	2	4	1	4	2	1	1	4	4	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:142961250G>A	ENST00000479303.1	+	2	202	c.144G>A	c.(142-144)atG>atA	p.M48I	GSTK1_ENST00000409500.3_Missense_Mutation_p.M48I|GSTK1_ENST00000358406.5_Missense_Mutation_p.M48I|GSTK1_ENST00000443571.2_Missense_Mutation_p.M48I|GSTK1_ENST00000494735.1_3'UTR|AC073342.12_ENST00000427392.1_RNA	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	48						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	CAGGGATCATGAAAGACAGTG	0.567													16	22					0	0	0	0	A	142961250	G	A	142961250	3	1	297	1	0	0	0	0	1	0	0	0	6886	1290	45	2	150	2	GSTK1	7	142961250	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	8082884	142961250	16177413	95	53209											
CSMD1	64478	broad.mit.edu	37	chr8	3059180	3059180	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaagtctggcctgtgcatgGgttccatcaaataattctgc	10	12	10	9	0	3	1	1	0	2	1	4	1	4	1	2	2	2	2	2	2	3	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:3059180G>A	ENST00000520002.1	-	33	5610	c.5055C>T	c.(5053-5055)acC>acT	p.T1685T	CSMD1_ENST00000602723.1_Silent_p.T1685T|CSMD1_ENST00000400186.3_Silent_p.T1685T|CSMD1_ENST00000602557.1_Silent_p.T1685T|CSMD1_ENST00000542608.1_Silent_p.T1684T|CSMD1_ENST00000539096.1_Silent_p.T1684T|CSMD1_ENST00000537824.1_Silent_p.T1684T|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1685	CUB 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTGTGCATGGGTTCCATCAA	0.438													7	11					0	0	0	0	A	3059180	G	A	3059180	2	1	297	1	0	0	0	0	0	0	0	1	3976	1219	43	4		4	CSMD1	8	3059180	Silent	SNP	G	TCGA-CV-7253-01A-11D-2012-08		3059180	143304842	96	53210											
CLDN23	137075	broad.mit.edu	37	chr8	8560453	8560453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctggcgctcagcttcgCgccctggtgcgacgagcgtt	3	9	14	15	7	1	0	1	0	0	0	3	2	1	0	1	2	3	4	1	2	0	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:8560453C>T	ENST00000519106.1	+	1	1006	c.545C>T	c.(544-546)gCg>gTg	p.A182V		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	182					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CTCAGCTTCGCGCCCTGGTGC	0.726													13	15					0	0	0	0	T	8560453	C	T	8560453	3	4	297	1	0	0	0	0	1	0	0	0	3514	768	27	1	547	1	CLDN23	8	8560453	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	5501273	8560453	137803569	97	53211											
NEFM	4741	broad.mit.edu	37	chr8	24772151	24772151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcgaaagccactcagAccagaatatgcaccaggccg	13	4	9	15	2	1	2	1	0	0	2	2	3	1	2	5	1	3	2	5	1	3	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:24772151A>G	ENST00000221166.5	+	1	1627	c.845A>G	c.(844-846)gAc>gGc	p.D282G	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.D282G|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.D282G			P07197	NFM_HUMAN	neurofilament, medium polypeptide	282	Coil 2A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGCCACTCAGACCAGAATATG	0.587													9	72					0	0	0	0	G	24772151	A	G	24772151	3	3	297	1	0	0	0	0	1	0	0	0	10386	275	10	5	847	5	NEFM	8	24772151	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	16211698	24772151	121591871	98	53212											
SCARA5	286133	broad.mit.edu	37	chr8	27779108	27779108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgcgagggagatgttcCgcagtgcgatggagtgctcc	6	10	15	10	4	0	1	0	0	0	1	3	5	2	2	2	2	2	3	2	2	0	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:27779108C>T	ENST00000354914.3	-	4	1381	c.896G>A	c.(895-897)cGg>cAg	p.R299Q	SCARA5_ENST00000518030.1_Missense_Mutation_p.R256Q|SCARA5_ENST00000524352.1_Missense_Mutation_p.R299Q|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000301906.4_Missense_Mutation_p.R256Q	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	299					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGAGATGTTCCGCAGTGCGAT	0.657													10	37					0	0	0	0	T	27779108	C	T	27779108	3	4	297	1	0	0	0	0	1	0	0	0	13966	652	23	1	615	1	SCARA5	8	27779108	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	3006957	27779108	118584914	99	53213											
ZNF704	619279	broad.mit.edu	37	chr8	81553638	81553638	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggccttcttccagcggCaggcggtacaccacatgtct	7	8	12	14	2	2	0	0	0	2	0	3	0	3	0	3	5	2	3	3	5	1	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:81553638C>G	ENST00000327835.3	-	9	1433	c.1202G>C	c.(1201-1203)tGc>tCc	p.C401S		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	401						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CTTCCAGCGGCAGGCGGTACA	0.627													4	19					0	0	0	0	G	81553638	C	G	81553638	3	3	297	1	0	0	0	0	1	0	0	0	18202	710	25	4	40	4	ZNF704	8	81553638	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	53774530	81553638	64810384	100	53214											
MATN2	4147	broad.mit.edu	37	chr8	99015907	99015907	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatcaactactgtgcacTgaacaaaccgggctgtgagc	12	7	12	10	1	1	2	1	2	0	0	1	3	1	3	1	2	6	2	1	2	4	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:99015907T>A	ENST00000254898.5	+	8	1454	c.1223T>A	c.(1222-1224)cTg>cAg	p.L408Q	MATN2_ENST00000520016.1_Missense_Mutation_p.L408Q|MATN2_ENST00000524308.1_Missense_Mutation_p.L367Q|MATN2_ENST00000522025.2_Missense_Mutation_p.L124Q|MATN2_ENST00000521689.1_Missense_Mutation_p.L408Q	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	408	EGF-like 5.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TACTGTGCACTGAACAAACCG	0.597													9	75					0	0	0	0	A	99015907	T	A	99015907	3	1	297	1	0	0	0	0	1	0	0	0	9403	1580	55	5	1249	5	MATN2	8	99015907	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	17462269	99015907	47348115	101	53215											
CSMD3	114788	broad.mit.edu	37	chr8	113657362	113657362	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgggttacatcaacagTccatgtacaattcagagaat	14	11	7	9	0	2	1	2	0	0	1	4	2	4	1	2	1	3	2	2	1	5	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:113657362T>A	ENST00000297405.5	-	20	3530	c.3286A>T	c.(3286-3288)Act>Tct	p.T1096S	CSMD3_ENST00000455883.2_Missense_Mutation_p.T992S|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1056S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1096S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1096	CUB 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACATCAACAGTCCATGTACAA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	42					0	0	0	0	A	113657362	T	A	113657362	3	1	297	1	0	0	0	0	1	0	0	0	3978	1667	58	5	8045	5	CSMD3	8	113657362	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	14641455	113657362	32706660	102	53216											
TRPS1	7227	broad.mit.edu	37	chr8	116616583	116616584	+	Frame_Shift_Ins	INS	-	-	A																															tcggaagtcacagaactgacINSaattatagctcgttaccata																										TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:116616583_116616584insA	ENST00000395715.3	-	4	2189_2190	c.1612_1613insT	c.(1612-1614)tcafs	p.S538fs	TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.S529fs|TRPS1_ENST00000519674.1_Frame_Shift_Ins_p.S525fs|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000220888.5_Frame_Shift_Ins_p.S525fs	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	525					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACAGAACTGACAATTATAGCTC	0.46									Langer-Giedion syndrome				130	65	---	---	---	---					A	116616584	-	A	116616583	7	5	297	1	0	1	1	0	0	0	0	0	16688	478	17	0	2287	0	TRPS1	8	116616583	Frame_Shift_Ins	INS	-	TCGA-CV-7253-01A-11D-2012-08	2959221	116616583	29747439	103	53217											
KCNK9	51305	broad.mit.edu	37	chr8	140631071	140631071	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtagtaggcgtggaagaaGctccactcctcacactggga	11	8	12	10	1	1	1	1	0	0	1	3	3	3	3	2	3	1	3	2	3	5	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:140631071G>C	ENST00000520439.1	-	2	618	c.555C>G	c.(553-555)agC>agG	p.S185R	KCNK9_ENST00000303015.1_Missense_Mutation_p.S185R			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	185						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGTGGAAGAAGCTCCACTCCT	0.592													19	41					0	0	0	0	C	140631071	G	C	140631071	3	2	297	1	0	0	0	0	1	0	0	0	8125	962	34	4	573	4	KCNK9	8	140631071	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	24014488	140631071	5732951	104	53218											
DNAI1	27019	broad.mit.edu	37	chr9	34506628	34506628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttccctgggtagatgActtcatgaagcagagccggg	9	9	12	11	1	2	4	1	2	1	2	3	4	3	4	3	2	2	2	3	2	2	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:34506628A>G	ENST00000242317.4	+	13	1238	c.1067A>G	c.(1066-1068)gAc>gGc	p.D356G		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	356					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TGGGTAGATGACTTCATGAAG	0.607									Kartagener syndrome				10	58					0	0	0	0	G	34506628	A	G	34506628	3	3	297	1	0	0	0	0	1	0	0	0	4645	275	10	5	1117	5	DNAI1	9	34506628	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08		34506628	106706803	105	53219											
VCP	7415	broad.mit.edu	37	chr9	35060329	35060329	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcaaagatttctctgAcattggcctcagactcccca	9	12	6	14	0	3	3	2	1	1	2	5	3	4	3	4	1	0	0	4	1	1	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:35060329A>C	ENST00000358901.6	-	13	2571	c.1676T>G	c.(1675-1677)gTc>gGc	p.V559G		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	559					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GATTTCTCTGACATTGGCCTC	0.458													19	26					0	0	0	0	C	35060329	A	C	35060329	3	2	297	1	0	0	0	0	1	0	0	0	17236	275	10	5	764	5	VCP	9	35060329	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	553701	35060329	106153102	106	53220											
SHB	6461	broad.mit.edu	37	chr9	38016101	38016101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcattcttggcatcaaaggGatctgagtagtcatcggcta	11	12	10	8	1	5	1	3	1	2	0	6	2	5	2	0	3	0	3	0	3	3	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:38016101G>A	ENST00000377707.3	-	2	1310	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.P249S|SHB_ENST00000377700.4_Missense_Mutation_p.P249S	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	249	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GCATCAAAGGGATCTGAGTAG	0.502													40	73					0	0	0	0	A	38016101	G	A	38016101	3	1	297	1	0	0	0	0	1	0	0	0	14356	1174	41	2	804	2	SHB	9	38016101	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	2955772	38016101	103197330	107	53221											
TMEM2	23670	broad.mit.edu	37	chr9	74319658	74319658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaccatagggttggacGgatactcatctcgtgtaatg	10	10	13	8	2	2	0	1	0	1	0	3	3	2	3	1	4	2	3	1	4	3	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:74319658G>A	ENST00000377044.4	-	18	3586	c.3047C>T	c.(3046-3048)cCg>cTg	p.P1016L	TMEM2_ENST00000396272.3_Missense_Mutation_p.P9L|TMEM2_ENST00000377066.5_Missense_Mutation_p.P953L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1016						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGGTTGGACGGATACTCATC	0.438													20	28					0	0	0	0	A	74319658	G	A	74319658	3	1	297	1	0	0	0	0	1	0	0	0	16215	1116	39	1	1132	1	TMEM2	9	74319658	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	36303557	74319658	66893773	108	53222											
ACTL7B	10880	broad.mit.edu	37	chr9	111617533	111617533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtagttggtgaggtcaccCccagcgtagtcggcgcggct	6	8	16	11	4	1	1	1	1	0	0	2	1	1	1	2	5	1	4	2	5	2	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:111617533C>T	ENST00000374667.3	-	1	1706	c.678G>A	c.(676-678)ggG>ggA	p.G226G		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	226						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGAGGTCACCCCCAGCGTAGT	0.647													13	47					0	0	0	0	T	111617533	C	T	111617533	2	4	297	1	0	0	0	0	0	0	0	1	201	610	22	4		4	ACTL7B	9	111617533	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	37297875	111617533	29595898	109	53223											
SVEP1	79987	broad.mit.edu	37	chr9	113169571	113169571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcatgaaatggcttcaCagcgtggggaggcaccactc	9	10	12	10	1	1	1	1	1	0	0	2	2	1	2	1	4	2	3	1	4	1	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:113169571C>A	ENST00000401783.2	-	38	8645	c.8309G>T	c.(8308-8310)tGt>tTt	p.C2770F	SVEP1_ENST00000374469.1_Missense_Mutation_p.C2747F|SVEP1_ENST00000297826.5_Missense_Mutation_p.C696F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2770	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATGGCTTCACAGCGTGGGGA	0.468													9	106					2.17888e-05	2.42922e-05	1	0	A	113169571	C	A	113169571	3	1	297	1	0	0	0	0	1	0	0	0	15510	478	17	4	2450	4	SVEP1	9	113169571	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	1552038	113169571	28043860	110	53224											
GATA3	2625	broad.mit.edu	37	chr10	8097767	8097767	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccggaggaggtggatgtgcTttttaacatcgacggtcaag	9	10	15	7	3	1	0	1	0	0	0	2	4	1	3	1	5	2	1	1	5	2	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:8097767T>A	ENST00000379328.3	+	2	717	c.149T>A	c.(148-150)cTt>cAt	p.L50H	GATA3_ENST00000346208.3_Missense_Mutation_p.L50H	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	50					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GTGGATGTGCTTTTTAACATC	0.657			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						6	3					0	0	0	0	A	8097767	T	A	8097767	3	1	297	1	0	0	0	0	1	0	0	0	6304	1609	56	5	151	5	GATA3	10	8097767	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08		8097767	127436980	111	53225											
ERCC6	2074	broad.mit.edu	37	chr10	50678456	50678456	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacactatgatgttttgtttTtgacttgtgcttataaaaat	11	19	6	5	0	0	2	0	2	0	0	0	2	0	2	0	0	1	3	0	0	5	8			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:50678456T>C	ENST00000355832.5	-	18	3628	c.3550A>G	c.(3550-3552)Aaa>Gaa	p.K1184E	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.K554E	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1184					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGTTTTGTTTTTGACTTGTGC	0.388								Direct reversal of damage;Nucleotide excision repair (NER)					68	100					0	0	0	0	C	50678456	T	C	50678456	3	2	297	1	0	0	0	0	1	0	0	0	5255	1850	64	5	947	5	ERCC6	10	50678456	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	42580689	50678456	84856291	112	53226											
PLCE1	51196	broad.mit.edu	37	chr10	95931086	95931086	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagagcagactatttacCgcagggtcttgccagtcgac	11	8	11	11	2	1	2	0	0	1	2	2	3	1	2	2	1	4	3	2	1	3	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:95931086C>G	ENST00000260766.3	+	4	2276	c.1642C>G	c.(1642-1644)Cgc>Ggc	p.R548G	PLCE1_ENST00000371385.3_Missense_Mutation_p.R240G|PLCE1_ENST00000371380.2_Missense_Mutation_p.R548G|PLCE1_ENST00000371375.1_Missense_Mutation_p.R240G	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	548	Ras-GEF.		R -> L (in dbSNP:rs17417407).		activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GACTATTTACCGCAGGGTCTT	0.547													57	121					0	0	0	0	G	95931086	C	G	95931086	3	3	297	1	0	0	0	0	1	0	0	0	12106	652	23	3	1938	3	PLCE1	10	95931086	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	45252630	95931086	39603661	113	53227											
SEC31B	25956	broad.mit.edu	37	chr10	102247816	102247816	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcttctcatatagatactCcagacgctgggctgcctctt	8	12	9	12	1	2	2	1	0	2	2	4	3	3	2	2	1	3	3	2	1	3	5			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:102247816C>A	ENST00000370345.3	-	25	3425	c.3328G>T	c.(3328-3330)Gag>Tag	p.E1110*		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1110					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TATAGATACTCCAGACGCTGG	0.527													11	21					6.40141e-05	7.07667e-05	1	0	A	102247816	C	A	102247816	4	1	297	1	0	0	0	0	0	1	0	0	14086	864	30	2	219	2	SEC31B	10	102247816	Nonsense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	6316730	102247816	33286931	114	53228											
ZDHHC6	64429	broad.mit.edu	37	chr10	114194142	114194142	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccacgtaaatacctgtttAaagttcctccatctacttcc	11	13	4	13	1	1	0	0	0	1	0	4	1	4	0	5	0	2	3	5	0	6	7			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:114194142A>T	ENST00000369405.3	-	7	1239	c.816T>A	c.(814-816)ttT>ttA	p.F272L	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.F268L	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	272						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		ATACCTGTTTAAAGTTCCTCC	0.398													5	60					0	0	0	0	T	114194142	A	T	114194142	3	4	297	1	0	0	0	0	1	0	0	0	17714	359	13	5	445	5	ZDHHC6	10	114194142	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	11946326	114194142	21340605	115	53229											
HABP2	3026	broad.mit.edu	37	chr10	115341746	115341746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatcaagagaatctatggagGctttaagagcacggcgggca	13	7	14	7	2	2	2	1	0	1	2	2	5	2	3	0	4	1	3	0	4	4	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:115341746G>A	ENST00000351270.3	+	9	1046	c.950G>A	c.(949-951)gGc>gAc	p.G317D	HABP2_ENST00000541666.1_Intron|HABP2_ENST00000542051.1_Missense_Mutation_p.G291D	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	317	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		ATCTATGGAGGCTTTAAGAGC	0.587													7	97					0	0	0	0	A	115341746	G	A	115341746	3	1	297	1	0	0	0	0	1	0	0	0	6988	1203	42	4	984	4	HABP2	10	115341746	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	1147604	115341746	20193001	116	53230											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118396277	118396277	+	RNA	DEL	G	G	-																															ttgactaacagacaaattatGgttttttttttccactagag																								rs148140777	by1000genomes	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:118396277delG	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													3	5	---	---	---	---					-	118396277	G	-	118396277	6	5	297	0	1	1	0	1	0	0	0	0	12223	1363	47	0		0	PNLIPRP2	10	118396277	RNA	DEL	G	TCGA-CV-7253-01A-11D-2012-08	3054531	118396277	17138470	117	53231											
EIF3A	8661	broad.mit.edu	37	chr10	120802159	120802159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcatccatgccacgccggGgaacccgatcatcgtctggt	8	8	10	15	4	3	0	2	0	1	0	5	2	4	1	4	3	2	0	4	3	1	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:120802159G>T	ENST00000369144.3	-	19	3000	c.2873C>A	c.(2872-2874)cCc>cAc	p.P958H	EIF3A_ENST00000541549.1_Missense_Mutation_p.P924H|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	958	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GCCACGCCGGGGAACCCGATC	0.582													46	118					4.21674e-32	5.46923e-32	1	0	T	120802159	G	T	120802159	3	4	297	1	0	0	0	0	1	0	0	0	5048	1232	43	4	1291	4	EIF3A	10	120802159	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	2405882	120802159	14732588	118	53232											
BAG3	9531	broad.mit.edu	37	chr10	121436667	121436667	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtgccgtggcagcagacaAgggcaagaaaaatgctggaa	14	4	16	7	1	0	2	0	0	0	2	0	3	0	3	1	4	3	4	1	4	5	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:121436667A>G	ENST00000369085.3	+	4	1907	c.1601A>G	c.(1600-1602)aAg>aGg	p.K534R		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	534					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GCAGCAGACAAGGGCAAGAAA	0.552													23	67					0	0	0	0	G	121436667	A	G	121436667	3	3	297	1	0	0	0	0	1	0	0	0	1292	72	3	5	1615	5	BAG3	10	121436667	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	634508	121436667	14098080	119	53233											
GPR123	84435	broad.mit.edu	37	chr10	134902448	134902449	+	Frame_Shift_Ins	INS	-	-	G																															gtcccgggggtcctgcagctINSgggggctaggccgctgcggg																								rs145811832	by1000genomes	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:134902448_134902449insG	ENST00000607359.1	+	9	1667_1668	c.1667_1668insG	c.(1666-1668)cggfs	p.R556fs	GPR123_ENST00000392607.3_Intron			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GTCCTGCAGCTGGGGGCTAGGC	0.693													3	5	---	---	---	---					G	134902449	-	G	134902448	7	5	297	1	0	1	1	0	0	0	0	0	6686	1595	55	0		0	GPR123	10	134902448	Frame_Shift_Ins	INS	-	TCGA-CV-7253-01A-11D-2012-08	13465781	134902448	632299	120	53234											
MUC5B	727897	broad.mit.edu	37	chr11	1256320	1256320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggccccttgcagcacctGcaggaaccggaggtgggagt	7	7	16	11	1	0	0	0	0	0	0	0	3	0	3	4	5	4	3	4	5	1	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:1256320G>A	ENST00000447027.1	+	22	2703	c.2645G>A	c.(2644-2646)tGc>tAc	p.C882Y	MUC5B_ENST00000529681.1_Missense_Mutation_p.C879Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	879	VWFC 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCAGCACCTGCAGGAACCGG	0.677													10	16					0	0	0	0	A	1256320	G	A	1256320	3	1	297	1	0	0	0	0	1	0	0	0	10049	1319	46	4	2731	4	MUC5B	11	1256320	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08		1256320	133750196	121	53235											
ILK	3611	broad.mit.edu	37	chr11	6631495	6631495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgctgacctctccaatatgGagattggaatgaaggtgaga	12	11	12	6	0	1	4	0	3	1	2	2	7	1	5	2	3	1	1	2	3	4	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:6631495G>C	ENST00000396751.2	+	11	1651	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	ILK_ENST00000537806.1_Missense_Mutation_p.E265Q|ILK_ENST00000420936.2_Missense_Mutation_p.E399Q|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000528995.1_Missense_Mutation_p.E338Q|ILK_ENST00000299421.4_Missense_Mutation_p.E399Q	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	399	Protein kinase.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CTCCAATATGGAGATTGGAAT	0.488													24	30					0	0	0	0	C	6631495	G	C	6631495	3	2	297	1	0	0	0	0	1	0	0	0	7766	1175	41	2	1237	2	ILK	11	6631495	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	5375175	6631495	128375021	122	53236											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077367	19077367	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacccacagagaaccatgaAtaaaaaaatcagccacgctg	18	4	8	11	1	1	2	1	1	0	1	1	4	1	3	3	1	2	1	3	1	6	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:19077367A>C	ENST00000329773.2	-	2	670	c.583T>G	c.(583-585)Ttc>Gtc	p.F195V		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	195					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGAACCATGAATAAAAAAATC	0.512													18	13					0	0	0	0	C	19077367	A	C	19077367	3	2	297	1	0	0	0	0	1	0	0	0	9837	101	4	5	413	5	MRGPRX2	11	19077367	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	12445872	19077367	115929149	123	53237											
OR5M9	390162	broad.mit.edu	37	chr11	56230584	56230584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcaatgaaaaagtagcaCtgcaccaagcatcccacata	17	5	7	12	1	0	1	0	1	0	0	1	1	1	1	2	1	3	5	2	1	6	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:56230584C>A	ENST00000279791.1	-	1	293	c.294G>T	c.(292-294)caG>caT	p.Q98H		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AAAAGTAGCACTGCACCAAGC	0.488													32	59					9.65021e-13	1.1545e-12	1	0	A	56230584	C	A	56230584	3	1	297	1	0	0	0	0	1	0	0	0	11248	564	20	4	640	4	OR5M9	11	56230584	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	37153217	56230584	78775932	124	53238											
SLC22A9	114571	broad.mit.edu	37	chr11	63137735	63137735	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacactggggccctcagccaAgatgcactcttgagaatctc	10	8	10	13	0	3	2	1	1	2	2	4	4	3	2	2	2	2	1	2	2	2	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:63137735A>T	ENST00000279178.3	+	1	456	c.207A>T	c.(205-207)caA>caT	p.Q69H	SLC22A9_ENST00000310969.4_Missense_Mutation_p.Q69H	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	69					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCCTCAGCCAAGATGCACTCT	0.527													26	102					0	0	0	0	T	63137735	A	T	63137735	3	4	297	1	0	0	0	0	1	0	0	0	14549	69	3	5	209	5	SLC22A9	11	63137735	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	6907151	63137735	71868781	125	53239											
ACY3	91703	broad.mit.edu	37	chr11	67412541	67412541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagagttcgatgaagtcCagaactgtggccaccagggt	11	9	13	8	1	0	4	0	2	0	2	2	5	1	4	3	2	1	1	3	2	3	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:67412541C>T	ENST00000255082.3	-	6	779	c.609G>A	c.(607-609)ctG>ctA	p.L203L	ACY3_ENST00000529256.1_Silent_p.L82L	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	203					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CGATGAAGTCCAGAACTGTGG	0.617													58	116					0	0	0	0	T	67412541	C	T	67412541	2	4	297	1	0	0	0	0	0	0	0	1	227	581	21	4		4	ACY3	11	67412541	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	4274806	67412541	67593975	126	53240											
CACNA1C	775	broad.mit.edu	37	chr12	2760859	2760859	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccgcctgttccgggtCatgcgtctggtgaagctgct	3	14	12	12	3	3	1	1	1	2	0	5	1	5	1	3	2	3	3	3	2	1	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:2760859C>A	ENST00000399655.1	+	32	4264	c.3999C>A	c.(3997-3999)gtC>gtA	p.V1333V	CACNA1C_ENST00000399621.1_Silent_p.V1333V|CACNA1C_ENST00000399638.1_Silent_p.V1361V|CACNA1C_ENST00000335762.5_Silent_p.V1358V|CACNA1C_ENST00000399641.1_Silent_p.V1333V|CACNA1C_ENST00000399595.1_Silent_p.V1322V|CACNA1C_ENST00000406454.3_Silent_p.V1333V|CACNA1C_ENST00000399637.1_Silent_p.V1333V|CACNA1C_ENST00000399597.1_Silent_p.V1333V|CACNA1C_ENST00000399603.1_Silent_p.V1333V|CACNA1C_ENST00000399606.1_Silent_p.V1353V|CACNA1C_ENST00000399591.1_Silent_p.V1322V|CACNA1C_ENST00000399649.1_Silent_p.V1320V|CACNA1C_ENST00000344100.3_Silent_p.V1355V|CACNA1C_ENST00000399634.1_Silent_p.V1333V|CACNA1C_ENST00000327702.7_Silent_p.V1333V|CACNA1C_ENST00000399601.1_Silent_p.V1333V|CACNA1C_ENST00000399629.1_Silent_p.V1350V|CACNA1C_ENST00000399617.1_Silent_p.V1333V|CACNA1C_ENST00000399644.1_Silent_p.V1333V|CACNA1C_ENST00000402845.3_Silent_p.V1333V|CACNA1C_ENST00000347598.4_Silent_p.V1381V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1381					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGTTCCGGGTCATGCGTCTGG	0.617													33	57					3.90053e-15	4.77541e-15	1	0	A	2760859	C	A	2760859	2	1	297	1	0	0	0	0	0	0	0	1	2565	813	29	2		2	CACNA1C	12	2760859	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08		2760859	131091036	127	53241											
PRMT8	56341	broad.mit.edu	37	chr12	3686072	3686072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctttgacatgacctgcAtccgggacgtggccatgaag	9	9	13	10	2	0	3	0	3	0	0	1	4	1	4	3	3	1	2	3	3	1	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:3686072A>G	ENST00000382622.3	+	7	1138	c.748A>G	c.(748-750)Atc>Gtc	p.I250V	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.I241V	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	250					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CATGACCTGCATCCGGGACGT	0.572													16	264					0	0	0	0	G	3686072	A	G	3686072	3	3	297	1	0	0	0	0	1	0	0	0	12622	217	8	5	774	5	PRMT8	12	3686072	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	925213	3686072	130165823	128	53242											
A2ML1	144568	broad.mit.edu	37	chr12	9020506	9020506	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacatgccatctgaggagatCaacctggttgtaaaatccac	13	10	8	10	0	2	2	1	1	1	1	3	3	3	2	3	2	3	2	3	2	4	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:9020506C>G	ENST00000299698.7	+	30	3966	c.3786C>G	c.(3784-3786)atC>atG	p.I1262M	A2ML1_ENST00000539547.1_Missense_Mutation_p.I771M	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1106						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CTGAGGAGATCAACCTGGTTG	0.453													33	44					0	0	0	0	G	9020506	C	G	9020506	3	3	297	1	0	0	0	0	1	0	0	0	5	816	29	2	3904	2	A2ML1	12	9020506	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	5334434	9020506	124831389	129	53243											
GSG1	83445	broad.mit.edu	37	chr12	13238169	13238169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcaggtgaaggagagcCaggccatgctagggacaaat	13	5	15	8	0	0	2	0	1	0	1	0	4	0	3	2	4	4	3	2	4	3	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:13238169C>A	ENST00000337630.6	-	6	714	c.647G>T	c.(646-648)tGg>tTg	p.W216L	GSG1_ENST00000396310.2_Missense_Mutation_p.W185L|GSG1_ENST00000351606.6_Silent_p.L293L|GSG1_ENST00000537302.1_Missense_Mutation_p.W188L|GSG1_ENST00000457134.2_Missense_Mutation_p.W165L|GSG1_ENST00000432710.2_Missense_Mutation_p.W229L|GSG1_ENST00000324458.8_Missense_Mutation_p.W252L|GSG1_ENST00000396302.3_Silent_p.L257L	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	239						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GAAGGAGAGCCAGGCCATGCT	0.483													13	35					2.27111e-07	2.58709e-07	1	0	A	13238169	C	A	13238169	3	1	297	1	0	0	0	0	1	0	0	0	6870	595	21	4	337	4	GSG1	12	13238169	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	4217663	13238169	120613726	130	53244											
TMBIM6	7009	broad.mit.edu	37	chr12	50135983	50135983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacggcagaggcgggaaGtgagaggagtctggggctgg	9	4	21	7	2	1	2	0	1	1	2	1	5	1	4	1	7	1	2	1	7	2	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:50135983G>T	ENST00000423828.1	+	1	392	c.64G>T	c.(64-66)Gtg>Ttg	p.V22L	TMBIM6_ENST00000552699.1_Missense_Mutation_p.V22L|TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000549385.1_Intron	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	0					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAGGCGGGAAGTGAGAGGAGT	0.637													6	23					5.18039e-06	5.82516e-06	1	0	T	50135983	G	T	50135983	3	4	297	1	0	0	0	0	1	0	0	0	16077	1029	36	4	66	4	TMBIM6	12	50135983	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	36897814	50135983	83715912	131	53245											
POU6F1	5463	broad.mit.edu	37	chr12	51590624	51590624	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgactgctgatccctggCatgctgggaatggcgctggt	6	11	14	10	1	1	2	0	2	1	0	2	3	2	3	1	4	2	4	1	4	1	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:51590624C>T	ENST00000389243.4	-	7	942	c.3G>A	c.(1-3)atG>atA	p.M1I	POU6F1_ENST00000333640.10_Start_Codon_SNP_p.M1I|POU6F1_ENST00000550824.1_Start_Codon_SNP_p.M1I			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	1	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TGATCCCTGGCATGCTGGGAA	0.612													6	84					0	0	0	0	T	51590624	C	T	51590624	1	4	297	1	0	0	0	0	0	0	0	0	12355	710	25	4		4	POU6F1	12	51590624	Translation_Start_Site	SNP	C	TCGA-CV-7253-01A-11D-2012-08	1454641	51590624	82261271	132	53246											
MAP3K12	7786	broad.mit.edu	37	chr12	53878059	53878059	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgggacttaaagtaagtCtcctggggtgtggagagtac	10	10	14	7	0	1	1	0	0	1	1	2	3	1	2	2	4	1	2	2	4	4	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:53878059C>T	ENST00000267079.2	-	8	1356	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	MAP3K12_ENST00000547035.1_Silent_p.E410E|MAP3K12_ENST00000547488.1_Silent_p.E410E	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	377					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TAAAGTAAGTCTCCTGGGGTG	0.488													11	31					0	0	0	0	T	53878059	C	T	53878059	2	4	297	1	0	0	0	0	0	0	0	1	9315	912	32	2		2	MAP3K12	12	53878059	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	2287435	53878059	79973836	133	53247											
EEA1	8411	broad.mit.edu	37	chr12	93196253	93196253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagagtttttcaaagaatcaGaaacttttgatagtttgtcc	13	16	7	5	0	2	4	2	1	0	3	3	4	3	4	1	0	1	2	1	0	5	7			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:93196253G>C	ENST00000322349.8	-	19	2861	c.2597C>G	c.(2596-2598)tCt>tGt	p.S866C		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	866					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CAAAGAATCAGAAACTTTTGA	0.308													8	16					0	0	0	0	C	93196253	G	C	93196253	3	2	297	1	0	0	0	0	1	0	0	0	4957	942	33	2	1682	2	EEA1	12	93196253	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	39318194	93196253	40655642	134	53248											
GNPTAB	79158	broad.mit.edu	37	chr12	102155370	102155370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttcttgcataacaatccGgtcaatcatgtgaggcatgt	11	12	9	9	1	3	1	2	1	1	0	4	1	4	1	1	2	2	3	1	2	3	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:102155370G>C	ENST00000299314.7	-	14	3149	c.2887C>G	c.(2887-2889)Cgg>Ggg	p.R963G		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	963					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ATAACAATCCGGTCAATCATG	0.388													24	38					0	0	0	0	C	102155370	G	C	102155370	3	2	297	1	0	0	0	0	1	0	0	0	6596	1115	39	3	915	3	GNPTAB	12	102155370	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	8959117	102155370	31696525	135	53249											
SLC41A2	84102	broad.mit.edu	37	chr12	105282861	105282861	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacactgctagagcacagaAgtatggaatgatcaaggtaa	16	7	10	8	0	1	3	1	1	0	2	1	4	1	4	1	2	2	4	1	2	6	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:105282861A>T	ENST00000258538.3	-	4	957	c.830T>A	c.(829-831)cTt>cAt	p.L277H		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	277						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						AGAGCACAGAAGTATGGAATG	0.398													18	43					0	0	0	0	T	105282861	A	T	105282861	3	4	297	1	0	0	0	0	1	0	0	0	14718	72	3	5	919	5	SLC41A2	12	105282861	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	3127491	105282861	28569034	136	53250											
RNF10	9921	broad.mit.edu	37	chr12	121013686	121013686	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagttttcaaaattcCttcagccaagctattgaagc	11	12	7	11	0	2	1	2	1	0	0	3	1	3	1	3	0	4	2	3	0	5	6			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:121013686C>T	ENST00000325954.4	+	16	2753	c.2292C>T	c.(2290-2292)tcC>tcT	p.S764S	RNF10_ENST00000413266.2_Silent_p.S769S|RNF10_ENST00000542701.1_3'UTR	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	764					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCAAAATTCCTTCAGCCAAG	0.507													93	136					0	0	0	0	T	121013686	C	T	121013686	2	4	297	1	0	0	0	0	0	0	0	1	13507	668	24	4		4	RNF10	12	121013686	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	15730825	121013686	12838209	137	53251											
TMEM120B	144404	broad.mit.edu	37	chr12	122181639	122181639	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcacctcaaggacttgaaGcttacactccagaggtaggt	13	8	10	10	0	1	2	1	1	0	1	2	3	2	3	2	3	3	3	2	3	5	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:122181639G>A	ENST00000449592.2	+	2	275	c.174G>A	c.(172-174)aaG>aaA	p.K58K		NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	58						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		AGGACTTGAAGCTTACACTCC	0.547													32	43					0	0	0	0	A	122181639	G	A	122181639	2	1	297	1	0	0	0	0	0	0	0	1	16128	962	34	4		4	TMEM120B	12	122181639	Silent	SNP	G	TCGA-CV-7253-01A-11D-2012-08	1167953	122181639	11670256	138	53252											
SBNO1	55206	broad.mit.edu	37	chr12	123782584	123782584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgcatcttcacgtttgtgCcactgacagatgctagaaca	10	12	8	11	1	3	3	1	1	2	2	3	3	3	3	1	0	4	3	1	0	2	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:123782584C>T	ENST00000420886.2	-	30	3979	c.3980G>A	c.(3979-3981)gGc>gAc	p.G1327D	SBNO1_ENST00000602750.1_Missense_Mutation_p.G1326D|SBNO1_ENST00000602398.1_Missense_Mutation_p.G1327D|SBNO1_ENST00000267176.4_Missense_Mutation_p.G1326D	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1327							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CACGTTTGTGCCACTGACAGA	0.428													5	108					0	0	0	0	T	123782584	C	T	123782584	3	4	297	1	0	0	0	0	1	0	0	0	13948	739	26	4	209	4	SBNO1	12	123782584	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	1600945	123782584	10069311	139	53253											
DNAH10	196385	broad.mit.edu	37	chr12	124377980	124377980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacctggtgcagaaacttcCcaggtacccgcggtggagcc	8	6	14	13	2	0	1	0	0	0	1	1	3	1	3	4	5	4	2	4	5	2	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:124377980C>T	ENST00000409039.3	+	52	8867	c.8842C>T	c.(8842-8844)Cca>Tca	p.P2948S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2948	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGAAACTTCCCAGGTACCCG	0.572													30	55					0	0	0	0	T	124377980	C	T	124377980	3	4	297	1	0	0	0	0	1	0	0	0	4635	623	22	4	9048	4	DNAH10	12	124377980	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	595396	124377980	9473915	140	53254											
USP12	219333	broad.mit.edu	37	chr13	27649390	27649390	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggattggtggcatcaccTgaagtgttaaacagacgaag	12	10	12	7	1	2	2	1	1	1	1	2	4	2	3	1	3	1	2	1	3	4	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:27649390T>C	ENST00000282344.6	-	7	1126	c.870A>G	c.(868-870)tcA>tcG	p.S290S		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	290					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TGGCATCACCTGAAGTGTTAA	0.408													17	48					0	0	0	0	C	27649390	T	C	27649390	2	2	297	1	0	0	0	0	0	0	0	1	17139	1567	55	5		5	USP12	13	27649390	Silent	SNP	T	TCGA-CV-7253-01A-11D-2012-08		27649390	87520488	141	53255											
FRY	10129	broad.mit.edu	37	chr13	32798467	32798468	+	Frame_Shift_Ins	INS	-	-	C																															ttgtactggaggatgctgggINScccccctggttgactatctc																										TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:32798467_32798468insC	ENST00000380250.3	+	37	5357_5358	c.4861_4862insC	c.(4861-4863)cccfs	p.P1621fs		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGGATGCTGGGCCCCCCTGGTT	0.569													41	54	---	---	---	---					C	32798468	-	C	32798467	7	5	297	1	0	1	1	0	0	0	0	0	6111	1203	42	0	5007	0	FRY	13	32798467	Frame_Shift_Ins	INS	-	TCGA-CV-7253-01A-11D-2012-08	5149077	32798467	82371411	142	53256											
POSTN	10631	broad.mit.edu	37	chr13	38160349	38160349	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaaaagcctcattggtGggagcaaagagtgtgaagtg	12	10	13	6	0	2	2	2	1	1	1	3	3	2	3	1	2	2	1	1	2	4	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:38160349G>T	ENST00000379747.4	-	7	939	c.822C>A	c.(820-822)ccC>ccA	p.P274P	POSTN_ENST00000541481.1_Silent_p.P274P|POSTN_ENST00000379743.4_Silent_p.P274P|POSTN_ENST00000541179.1_Silent_p.P274P|POSTN_ENST00000379749.4_Silent_p.P274P|POSTN_ENST00000379742.4_Silent_p.P274P	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	274	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CCTCATTGGTGGGAGCAAAGA	0.468													19	54					8.28177e-16	1.0235e-15	1	0	T	38160349	G	T	38160349	2	4	297	1	0	0	0	0	0	0	0	1	12331	1335	47	4		4	POSTN	13	38160349	Silent	SNP	G	TCGA-CV-7253-01A-11D-2012-08	5361882	38160349	77009529	143	53257											
NAA16	79612	broad.mit.edu	37	chr13	41891057	41891057	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgaacccaaaatttgctGaacatggaggtattgtctca	12	12	9	8	1	1	1	1	1	1	0	3	3	1	2	1	2	3	2	1	2	5	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:41891057G>T	ENST00000379406.3	+	2	454	c.130G>T	c.(130-132)Gaa>Taa	p.E44*	NAA16_ENST00000379367.3_Nonsense_Mutation_p.E44*|NAA16_ENST00000403412.3_Nonsense_Mutation_p.E44*	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	44					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AAAATTTGCTGAACATGGAGG	0.368													8	18					7.48243e-07	8.48656e-07	1	0	T	41891057	G	T	41891057	4	4	297	1	0	0	0	0	0	1	0	0	10189	1291	45	2	136	2	NAA16	13	41891057	Nonsense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	3730708	41891057	73278821	144	53258											
RASA3	22821	broad.mit.edu	37	chr13	114839224	114839225	+	Frame_Shift_Ins	INS	-	-	A																															tttccacaattttggtcctgINSaaaacctcctcctggtccag																										TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:114839224_114839225insA	ENST00000334062.7	-	2	264_265	c.143_144insT	c.(142-144)tagfs	p.*48fs	RASA3_ENST00000389544.4_Frame_Shift_Ins_p.*16fs|RASA3_ENST00000542651.1_Frame_Shift_Ins_p.*48fs	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	48	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TTTTGGTCCTGAAAACCTCCTC	0.465													28	82	---	---	---	---					A	114839225	-	A	114839224	7	5	297	1	0	1	1	0	0	0	0	0	13144	1281	45	0	2452	0	RASA3	13	114839224	Frame_Shift_Ins	INS	-	TCGA-CV-7253-01A-11D-2012-08	72948167	114839224	330654	145	53259											
CDC16	8881	broad.mit.edu	37	chr13	115002175	115002175	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtagcttcactctctcgtgGtaagtgacaaaatgctaact	12	12	8	9	1	2	1	1	1	1	0	4	1	2	1	0	1	3	4	0	1	5	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:115002175G>T	ENST00000360383.3	+	2	301		c.e2+1		CDC16_ENST00000356221.3_Splice_Site|CDC16_ENST00000252457.5_Splice_Site|CDC16_ENST00000375308.1_Splice_Site|CDC16_ENST00000375310.1_Splice_Site|CDC16_ENST00000252458.6_Splice_Site|CDC16_ENST00000375312.3_Splice_Site	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|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|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			CTCTCTCGTGGTAAGTGACAA	0.358													21	50					3.8784e-16	4.83877e-16	1	0	T	115002175	G	T	115002175	5	4	297	1	0	0	0	0	0	0	1	0	3087	1275	44	4	110	4	CDC16	13	115002175	Splice_Site	SNP	G	TCGA-CV-7253-01A-11D-2012-08	162951	115002175	167703	146	53260											
BCL2L2	599	broad.mit.edu	37	chr14	23777304	23777304	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcactgtgtgctgagAgtgtcaacaaggagatggaa	11	8	16	6	0	1	2	1	1	0	2	1	5	1	3	0	3	3	3	0	3	3	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:23777304A>C	ENST00000250405.5	+	3	557	c.328A>C	c.(328-330)Agt>Cgt	p.S110R	BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.S110R|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.S110R	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041.1			BCL2-like 2											central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		GTGTGCTGAGAGTGTCAACAA	0.582													39	50					0	0	0	0	C	23777304	A	C	23777304	3	2	297	1	0	0	0	0	1	0	0	0	1378	304	11	5	330	5	BCL2L2	14	23777304	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08		23777304	83572236	147	53261											
NYNRIN	57523	broad.mit.edu	37	chr14	24880367	24880367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacaccgagaggtcactGtgtttgtacccacctggcag	8	8	14	11	1	1	1	1	0	0	1	1	3	1	2	3	4	1	3	3	4	1	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:24880367G>T	ENST00000382554.3	+	5	2818	c.2500G>T	c.(2500-2502)Gtg>Ttg	p.V834L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	834					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAGGTCACTGTGTTTGTACC	0.592											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	65					3.77171e-38	4.94094e-38	1	0	T	24880367	G	T	24880367	3	4	297	1	0	0	0	0	1	0	0	0	10867	1377	48	4	2514	4	NYNRIN	14	24880367	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	1103063	24880367	82469173	148	53262											
AKAP6	9472	broad.mit.edu	37	chr14	33015409	33015409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctaaacgggggactggttCaggcaaacaagctaaaaata	17	6	10	8	1	1	0	1	0	0	0	1	1	1	1	1	4	3	3	1	4	8	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:33015409C>T	ENST00000280979.4	+	4	1720	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	AKAP6_ENST00000557272.1_Missense_Mutation_p.S517L|AKAP6_ENST00000557354.1_Missense_Mutation_p.S517L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	517					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)		GGGACTGGTTCAGGCAAACAA	0.463													29	49					0	0	0	0	T	33015409	C	T	33015409	3	4	297	1	0	0	0	0	1	0	0	0	455	838	29	2	1560	2	AKAP6	14	33015409	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	8135042	33015409	74334131	149	53263											
FSCB	84075	broad.mit.edu	37	chr14	44975866	44975866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacatcctgaacactctctgGcaattcaatagcagcttctc	11	12	5	13	0	3	1	1	1	2	0	6	1	4	1	1	1	4	3	1	1	5	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:44975866G>T	ENST00000340446.4	-	1	616	c.325C>A	c.(325-327)Cca>Aca	p.P109T		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	109						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACACTCTCTGGCAATTCAATA	0.418													45	97					2.35958e-20	3.00103e-20	1	0	T	44975866	G	T	44975866	3	4	297	1	0	0	0	0	1	0	0	0	6114	1203	42	4	2156	4	FSCB	14	44975866	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	11960457	44975866	62373674	150	53264											
C14orf159	80017	broad.mit.edu	37	chr14	91642340	91642340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccatggtgtgtcccccaGgggaggttccagtgttctgg	5	11	15	10	0	1	0	0	0	1	0	3	1	3	1	4	5	1	2	4	5	0	2	rs75931548	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:91642340G>T	ENST00000518868.1	+	10	1360	c.670G>T	c.(670-672)Ggg>Tgg	p.G224W	C14orf159_ENST00000520328.1_Missense_Mutation_p.G207W|C14orf159_ENST00000521077.2_Missense_Mutation_p.G224W|C14orf159_ENST00000522322.1_Missense_Mutation_p.G219W|C14orf159_ENST00000412671.2_Missense_Mutation_p.G224W|C14orf159_ENST00000523771.1_Missense_Mutation_p.G219W|C14orf159_ENST00000256324.10_Missense_Mutation_p.G224W|C14orf159_ENST00000523816.1_Missense_Mutation_p.G219W|C14orf159_ENST00000525393.2_Missense_Mutation_p.G95W|C14orf159_ENST00000428926.2_Missense_Mutation_p.G219W			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	219						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GTGTCCCCCAGGGGAGGTTCC	0.537													26	45					4.43304e-23	5.69341e-23	1	0	T	91642340	G	T	91642340	3	4	297	1	0	0	0	0	1	0	0	0	1767	1000	35	4	688	4	C14orf159	14	91642340	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	46666474	91642340	15707200	151	53265											
OR4N4	283694	broad.mit.edu	37	chr15	22383155	22383155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgccatgttcgtagggCagcttctgaagggaagaaca	10	9	12	10	1	2	2	0	1	2	1	3	3	2	3	2	2	3	4	2	2	4	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:22383155C>A	ENST00000328795.4	+	1	774	c.683C>A	c.(682-684)gCa>gAa	p.A228E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTTCGTAGGGCAGCTTCTGAA	0.493													37	324					9.80977e-26	1.26609e-25	1	0	A	22383155	C	A	22383155	3	1	297	1	0	0	0	0	1	0	0	0	11149	710	25	4	685	4	OR4N4	15	22383155	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08		22383155	80148237	152	53266											
SPG11	80208	broad.mit.edu	37	chr15	44941138	44941138	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtccacagtgctggcacTtccatggatcatgagtctgt	8	12	11	10	0	2	1	1	1	1	0	4	2	4	2	2	2	1	2	2	2	0	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:44941138T>A	ENST00000261866.7	-	7	1544	c.1528A>T	c.(1528-1530)Agt>Tgt	p.S510C	SPG11_ENST00000559193.1_Missense_Mutation_p.S510C|SPG11_ENST00000558319.1_Missense_Mutation_p.S510C|SPG11_ENST00000427534.2_Missense_Mutation_p.S510C|SPG11_ENST00000535302.2_Missense_Mutation_p.S510C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	510					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTGCTGGCACTTCCATGGATC	0.398													14	42					0	0	0	0	A	44941138	T	A	44941138	3	1	297	1	0	0	0	0	1	0	0	0	15131	1609	56	5	5939	5	SPG11	15	44941138	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	22557983	44941138	57590254	153	53267											
SPG11	80208	broad.mit.edu	37	chr15	44941194	44941195	+	Frame_Shift_Del	DEL	AG	AG	-																															gagtcaaaccaaacaaaatcAgagagagtccattctctata																										TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:44941194_44941195delAG	ENST00000261866.7	-	7	1487_1488	c.1471_1472delCT	c.(1471-1473)gfs	p.L491fs	SPG11_ENST00000535302.2_Frame_Shift_Del_p.L491fs|SPG11_ENST00000427534.2_Frame_Shift_Del_p.L491fs|SPG11_ENST00000559193.1_Frame_Shift_Del_p.L491fs|SPG11_ENST00000558319.1_Frame_Shift_Del_p.L491fs	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	491					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAACAAAATCAGAGAGAGTCCA	0.337													12	21	---	---	---	---					-	44941195	AG	-	44941194	7	5	297	1	0	1	0	1	0	0	0	0	15131	188	7	0	5995	0	SPG11	15	44941194	Frame_Shift_Del	DEL	AG	TCGA-CV-7253-01A-11D-2012-08	56	44941194	57590198	154	53268											
LINGO1	84894	broad.mit.edu	37	chr15	77907870	77907870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcttcaggcggttgctgcGgagacccagcgtccggaggt	6	7	17	11	4	1	1	1	0	0	1	2	4	2	2	2	5	4	3	2	5	0	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:77907870G>A	ENST00000355300.6	-	2	553	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	LINGO1_ENST00000561030.1_Missense_Mutation_p.R121C	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	127					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGGTTGCTGCGGAGACCCAGC	0.602													13	25					0	0	0	0	A	77907870	G	A	77907870	3	1	297	1	0	0	0	0	1	0	0	0	8869	1116	39	1	1487	1	LINGO1	15	77907870	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	32966676	77907870	24623522	155	53269											
CHRNA3	1136	broad.mit.edu	37	chr15	78894291	78894291	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgtacagcgagtatgtGatgtcggggtagatctcctc	8	11	14	8	3	1	2	0	1	1	1	4	4	1	3	1	3	2	3	1	3	3	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:78894291G>T	ENST00000326828.5	-	5	1077	c.693C>A	c.(691-693)atC>atA	p.I231I	CHRNA3_ENST00000348639.3_Silent_p.I231I	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	231					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCGAGTATGTGATGTCGGGGT	0.547													22	29					9.95505e-16	1.22452e-15	1	0	T	78894291	G	T	78894291	2	4	297	1	0	0	0	0	0	0	0	1	3413	1280	45	2		2	CHRNA3	15	78894291	Silent	SNP	G	TCGA-CV-7253-01A-11D-2012-08	986421	78894291	23637101	156	53270											
KIAA1199	57214	broad.mit.edu	37	chr15	81225737	81225737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgacaactggctggtccGgcacccagactgcatcaatg	11	7	11	12	1	1	2	1	1	0	1	2	3	2	2	2	3	2	3	2	3	3	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:81225737G>A	ENST00000394685.3	+	23	3364	c.2945G>A	c.(2944-2946)cGg>cAg	p.R982Q	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R982Q|KIAA1199_ENST00000220244.3_Missense_Mutation_p.R982Q			Q8WUJ3	K1199_HUMAN	KIAA1199	982										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGCTGGTCCGGCACCCAGAC	0.582													29	70					0	0	0	0	A	81225737	G	A	81225737	3	1	297	1	0	0	0	0	1	0	0	0	8264	1116	39	1	3027	1	KIAA1199	15	81225737	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	2331446	81225737	21305655	157	53271											
PDPK1	5170	broad.mit.edu	37	chr16	2611896	2611899	+	Frame_Shift_Del	DEL	CGAC	CGAC	-																															ctttacttcacatttcaggaCgacgagaagctgtgtatcct																										TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:2611896_2611899delCGAC	ENST00000342085.4	+	4	602_605	c.453_456delCGAC	c.(451-456)gafs	p.DD151fs	PDPK1_ENST00000441549.3_Frame_Shift_Del_p.DD151fs|PDPK1_ENST00000268673.7_Intron|RP11-20I23.8_ENST00000569852.1_RNA|PDPK1_ENST00000389224.3_Frame_Shift_Del_p.DD124fs|PDPK1_ENST00000354836.5_Frame_Shift_Del_p.DD151fs	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	151	Protein kinase.				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	CATTTCAGGACGACGAGAAGCTGT	0.52													2	4	---	---	---	---					-	2611899	CGAC	-	2611896	7	5	297	1	0	1	0	1	0	0	0	0	11758	535	19	0	467	0	PDPK1	16	2611896	Frame_Shift_Del	DEL	CGAC	TCGA-CV-7253-01A-11D-2012-08		2611896	87742857	158	53272											
TRAP1	10131	broad.mit.edu	37	chr16	3722789	3722789	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtgcaacgctggagccCagctcccggctcacatcaaa	11	6	9	15	2	2	0	2	0	0	0	3	1	3	1	2	2	5	4	2	2	3	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:3722789C>T	ENST00000575671.1	-	5	1179	c.450G>A	c.(448-450)ctG>ctA	p.L150L	TRAP1_ENST00000538171.1_Silent_p.L306L|TRAP1_ENST00000246957.5_Silent_p.L359L|TRAP1_ENST00000573872.1_Intron			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	359					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CGCTGGAGCCCAGCTCCCGGC	0.622													5	12					0	0	0	0	T	3722789	C	T	3722789	2	4	297	1	0	0	0	0	0	0	0	1	16550	581	21	4		4	TRAP1	16	3722789	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	1110893	3722789	86631964	159	53273											
TGFB1I1	7041	broad.mit.edu	37	chr16	31485728	31485728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacctcagccactctggaGctggatagactgatggcctc	8	8	11	14	0	2	2	1	1	1	1	3	4	2	4	4	3	2	1	4	3	1	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:31485728G>T	ENST00000394863.3	+	6	601	c.471G>T	c.(469-471)gaG>gaT	p.E157D	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.E140D|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.E140D|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.E140D	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	157	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						CCACTCTGGAGCTGGATAGAC	0.572													14	81					2.32078e-09	2.73894e-09	1	0	T	31485728	G	T	31485728	3	4	297	1	0	0	0	0	1	0	0	0	15911	962	34	4	493	4	TGFB1I1	16	31485728	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	27762939	31485728	58869025	160	53274											
CNGB1	1258	broad.mit.edu	37	chr16	57994742	57994742	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcccttccttggctcAcctcagaggatttggggggc	4	11	12	14	0	3	1	2	0	1	1	5	2	4	2	4	5	0	1	4	5	0	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:57994742A>G	ENST00000564448.1	-	8	595		c.e8+1		CNGB1_ENST00000311183.4_Splice_Site|CNGB1_ENST00000251102.8_Splice_Site			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1						sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCCTTGGCTCACCTCAGAGGA	0.642													14	30					0	0	0	0	G	57994742	A	G	57994742	5	3	297	1	0	0	0	0	0	0	1	0	3630	173	6	5	3353	5	CNGB1	16	57994742	Splice_Site	SNP	A	TCGA-CV-7253-01A-11D-2012-08	26509014	57994742	32360011	161	53275											
CNOT1	23019	broad.mit.edu	37	chr16	58572083	58572083	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgctaggtgaagatcataCtgctgcatattaaccaaatg	13	11	9	8	1	1	2	1	1	0	1	1	2	1	2	1	1	5	3	1	1	6	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:58572083C>T	ENST00000317147.5	-	37	5555	c.5223G>A	c.(5221-5223)caG>caA	p.Q1741Q	CNOT1_ENST00000245138.4_Silent_p.Q592Q|CNOT1_ENST00000569240.1_Silent_p.Q1736Q	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1741					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GAAGATCATACTGCTGCATAT	0.403													7	23					0	0	0	0	T	58572083	C	T	58572083	2	4	297	1	0	0	0	0	0	0	0	1	3647	564	20	4		4	CNOT1	16	58572083	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	577341	58572083	31782670	162	53276											
CDH11	1009	broad.mit.edu	37	chr16	65038544	65038544	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attgagggaaggcagccttaCcctgcccacaagcacggggt	10	6	13	12	1	0	1	0	1	0	0	0	2	0	2	3	4	4	2	3	4	3	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:65038544C>A	ENST00000394156.3	-	3	682		c.e3+1		CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_Intron|CDH11_ENST00000268603.4_Splice_Site			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)						adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGCAGCCTTACCCTGCCCACA	0.572			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			17	16					9.7654e-05	0.000107052	1	0	A	65038544	C	A	65038544	5	1	297	1	0	0	0	0	0	0	1	0	3126	521	18	4	2205	4	CDH11	16	65038544	Splice_Site	SNP	C	TCGA-CV-7253-01A-11D-2012-08	6466461	65038544	25316209	163	53277											
CTCF	10664	broad.mit.edu	37	chr16	67650762	67650762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattcaagtgttccatgtGcgattacgccagtgtagaag	10	11	11	9	2	1	1	1	0	0	1	2	2	2	1	3	0	2	2	3	0	4	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:67650762G>T	ENST00000264010.4	+	5	1511	c.1067G>T	c.(1066-1068)tGc>tTc	p.C356F	CTCF_ENST00000401394.1_Missense_Mutation_p.C28F	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	356					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TGTTCCATGTGCGATTACGCC	0.448													80	130					1.06985e-64	1.42285e-64	1	0	T	67650762	G	T	67650762	3	4	297	1	0	0	0	0	1	0	0	0	4032	1319	46	4	1077	4	CTCF	16	67650762	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	2612218	67650762	22703991	164	53278											
ESRP2	80004	broad.mit.edu	37	chr16	68265188	68265188	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccacctccacgtagcgcTccttcatcaccttcttatgg	7	11	7	16	2	3	0	2	0	1	0	5	1	5	1	5	2	1	2	5	2	2	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:68265188T>A	ENST00000473183.2	-	12	2142	c.1604A>T	c.(1603-1605)gAg>gTg	p.E535V	ESRP2_ENST00000565858.1_Missense_Mutation_p.E545V			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	545	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CACGTAGCGCTCCTTCATCAC	0.617													21	39					0	0	0	0	A	68265188	T	A	68265188	3	1	297	1	0	0	0	0	1	0	0	0	5297	1551	54	5	565	5	ESRP2	16	68265188	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	614426	68265188	22089565	165	53279											
OVCA2	124641	broad.mit.edu	37	chr17	1945365	1945365	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgcgcagcgacccctgcgGgtcctgtgcctggcgggctt	2	7	16	16	5	0	0	0	0	0	0	1	1	1	0	5	3	3	2	5	3	0	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:1945365G>A	ENST00000572195.1	+	1	39	c.24G>A	c.(22-24)cgG>cgA	p.R8R	DPH1_ENST00000570477.1_Intron|DPH1_ENST00000263083.6_Intron	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	8					response to retinoic acid	cytoplasm	hydrolase activity										GACCCCTGCGGGTCCTGTGCC	0.716											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	4					0	0	0	0	A	1945365	G	A	1945365	2	1	297	1	0	0	0	0	0	0	0	1	11393	1219	43	4		4	OVCA2	17	1945365	Silent	SNP	G	TCGA-CV-7253-01A-11D-2012-08		1945365	79249845	166	53280											
TRPV3	162514	broad.mit.edu	37	chr17	3419860	3419860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactccaagatggtcctggCtctctggggacataagcaag	12	8	11	10	0	1	1	0	0	1	1	4	2	3	2	2	4	2	2	2	4	4	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:3419860C>T	ENST00000301365.4	-	16	2220	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	TRPV3_ENST00000576742.1_Missense_Mutation_p.A697T|TRPV3_ENST00000572519.1_Missense_Mutation_p.A697T			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	697						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ATGGTCCTGGCTCTCTGGGGA	0.537													13	12					0	0	0	0	T	3419860	C	T	3419860	3	4	297	1	0	0	0	0	1	0	0	0	16692	797	28	4	295	4	TRPV3	17	3419860	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	1474495	3419860	77775350	167	53281											
ZZEF1	23140	broad.mit.edu	37	chr17	3977538	3977538	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccccaagacacggcaacAtcgggcagcccacaggcagt	12	2	11	16	2	0	1	0	0	0	1	1	1	0	1	3	3	3	3	3	3	2	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:3977538A>G	ENST00000381638.2	-	24	3715	c.3591T>C	c.(3589-3591)gaT>gaC	p.D1197D		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1197							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACACGGCAACATCGGGCAGCC	0.587											OREG0024096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	84	70					0	0	0	0	G	3977538	A	G	3977538	2	3	297	1	0	0	0	0	0	0	0	1	18346	214	8	5		5	ZZEF1	17	3977538	Silent	SNP	A	TCGA-CV-7253-01A-11D-2012-08	557678	3977538	77217672	168	53282											
ZNF232	7775	broad.mit.edu	37	chr17	5009729	5009729	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttctgagaacacctgtGattccacttcagtaatgggt	9	15	9	8	0	2	2	1	2	1	1	3	3	3	2	2	1	1	2	2	1	2	5			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:5009729G>T	ENST00000250076.3	-	5	1379	c.725C>A	c.(724-726)tCa>tAa	p.S242*	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Nonsense_Mutation_p.S233*|ZNF232_ENST00000575538.1_5'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	215					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GAACACCTGTGATTCCACTTC	0.448													30	14					1.39806e-14	1.68797e-14	1	0	T	5009729	G	T	5009729	4	4	297	1	0	0	0	0	0	1	0	0	17880	1294	45	2	613	2	ZNF232	17	5009729	Nonsense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	1032191	5009729	76185481	169	53283											
TP53	7157	broad.mit.edu	37	chr17	7577126	7577126	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggcacaaacacgcaccTcaaagctgttccgtcccagt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	0	3	1	2	4	3	1	2	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:7577126T>A	ENST00000420246.2	-	8	944	c.812A>T	c.(811-813)gAg>gTg	p.E271V	TP53_ENST00000269305.4_Missense_Mutation_p.E271V|TP53_ENST00000445888.2_Missense_Mutation_p.E271V|TP53_ENST00000359597.4_Missense_Mutation_p.E271V|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E271V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E271V(6)|p.E271G(3)|p.?(2)|p.E271fs*74(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.E271*(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271_R273delEVR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AACACGCACCTCAAAGCTGTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	9					0	0	0	0	A	7577126	T	A	7577126	3	1	297	1	0	0	0	0	1	0	0	0	16476	1551	54	5	474	5	TP53	17	7577126	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	2567397	7577126	73618084	170	53284											
DNAH9	1770	broad.mit.edu	37	chr17	11554533	11554533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcaaattggtacaacaagGttatgaaaactctgctggag	14	10	11	6	0	1	1	0	1	1	0	1	2	1	2	0	4	4	4	0	4	7	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:11554533G>T	ENST00000262442.3	+	13	2313	c.2245G>T	c.(2245-2247)Gtt>Ttt	p.V749F	DNAH9_ENST00000454412.2_Missense_Mutation_p.V749F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	749	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTACAACAAGGTTATGAAAAC	0.463													5	69					0.00116845	0.0012394	1	0	T	11554533	G	T	11554533	3	4	297	1	0	0	0	0	1	0	0	0	4644	1261	44	4	2295	4	DNAH9	17	11554533	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	3977407	11554533	69640677	171	53285											
MYO15A	51168	broad.mit.edu	37	chr17	18075505	18075505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctatgttcggctcctcCttcttcttcatccagagctg	5	16	6	14	1	3	1	1	0	2	1	7	1	6	1	4	1	2	3	4	1	2	6			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:18075505C>T	ENST00000451725.2	+	8	671	c.632C>T	c.(631-633)cCt>cTt	p.P211L	MYO15A_ENST00000418233.3_Silent_p.S681S|MYO15A_ENST00000205890.5_Silent_p.S3417S			Q9UKN7	MYO15_HUMAN	myosin XVA	669	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCGGCTCCTCCTTCTTCTTCA	0.582													4	33					0	0	0	0	T	18075505	C	T	18075505	3	4	297	1	0	0	0	0	1	0	0	0	10133	668	24	4	10497	4	MYO15A	17	18075505	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	6520972	18075505	63119705	172	53286											
MYO18A	399687	broad.mit.edu	37	chr17	27426719	27426719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaacagggttaggttcCtgctggtttgttcatcccgc	5	14	12	10	1	1	0	1	0	0	0	3	1	3	1	2	4	2	5	2	4	2	5			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:27426719C>T	ENST00000527372.1	-	22	3749	c.3569G>A	c.(3568-3570)aGg>aAg	p.R1190K	MYO18A_ENST00000354329.4_Missense_Mutation_p.R1190K|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1190K|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1190K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1190	IQ.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGTTAGGTTCCTGCTGGTTTG	0.607													12	29					0	0	0	0	T	27426719	C	T	27426719	3	4	297	1	0	0	0	0	1	0	0	0	10135	681	24	4	2679	4	MYO18A	17	27426719	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	9351214	27426719	53768491	173	53287											
TAOK1	57551	broad.mit.edu	37	chr17	27857580	27857580	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggaacagacccggaaattAgctatcttggctgagcagta	13	8	12	8	1	1	2	0	1	1	1	1	5	1	4	1	3	3	4	1	3	5	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:27857580A>T	ENST00000261716.3	+	18	2823	c.2304A>T	c.(2302-2304)ttA>ttT	p.L768F	TAOK1_ENST00000536202.1_Missense_Mutation_p.L620F	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	768					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CCCGGAAATTAGCTATCTTGG	0.443													28	37					0	0	0	0	T	27857580	A	T	27857580	3	4	297	1	0	0	0	0	1	0	0	0	15638	417	15	5	2370	5	TAOK1	17	27857580	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	430861	27857580	53337630	174	53288											
G6PC	2538	broad.mit.edu	37	chr17	41056042	41056043	+	Frame_Shift_Del	DEL	TG	TG	-																															taaagcagttccctgtaaccTgtgagactggaccaggtaag																										TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:41056042_41056043delTG	ENST00000253801.2	+	2	404_405	c.325_326delTG	c.(325-327)tfs	p.C109fs	G6PC_ENST00000585489.1_Frame_Shift_Del_p.C109fs|G6PC_ENST00000592383.1_Frame_Shift_Del_p.C109fs	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	109					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCCTGTAACCTGTGAGACTGGA	0.515													34	66	---	---	---	---					-	41056043	TG	-	41056042	7	5	297	1	0	1	0	1	0	0	0	0	6191	1580	55	0	331	0	G6PC	17	41056042	Frame_Shift_Del	DEL	TG	TCGA-CV-7253-01A-11D-2012-08	13198462	41056042	40139168	175	53289											
MAPT	4137	broad.mit.edu	37	chr17	44096055	44096055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtcgaagattgggtccCtggacaatatcacccacgtc	10	9	9	13	2	1	1	1	0	0	1	5	3	3	2	3	2	0	0	3	2	3	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:44096055C>A	ENST00000344290.5	+	14	2396	c.2074C>A	c.(2074-2076)Ctg>Atg	p.L692M	MAPT_ENST00000576518.1_Missense_Mutation_p.L257M|MAPT_ENST00000415613.2_Missense_Mutation_p.L692M|MAPT_ENST00000340799.5_Missense_Mutation_p.L328M|MAPT_ENST00000431008.3_Missense_Mutation_p.L326M|MAPT_ENST00000420682.2_Missense_Mutation_p.L328M|MAPT_ENST00000347967.5_Missense_Mutation_p.L232M|MAPT_ENST00000574436.1_Missense_Mutation_p.L357M|MAPT_ENST00000571987.1_Missense_Mutation_p.L674M|MAPT_ENST00000351559.5_Missense_Mutation_p.L357M|MAPT_ENST00000334239.8_Missense_Mutation_p.L268M|MAPT_ENST00000262410.5_Missense_Mutation_p.L674M|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.L326M|MAPT_ENST00000446361.3_Missense_Mutation_p.L299M	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	674		Not glycated.			cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GATTGGGTCCCTGGACAATAT	0.493													6	186					3.59834e-05	3.99476e-05	1	0	A	44096055	C	A	44096055	3	1	297	1	0	0	0	0	1	0	0	0	9366	680	24	4	2124	4	MAPT	17	44096055	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	3040013	44096055	37099155	176	53290											
ACSF2	80221	broad.mit.edu	37	chr17	48548429	48548429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagtcccgtgacattcgCgcacttccctgaggacactg	9	8	10	14	3	0	2	0	2	0	0	3	4	2	3	2	1	1	1	2	1	1	2	rs148600715		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:48548429C>T	ENST00000427954.2	+	12	1374	c.1331C>T	c.(1330-1332)gCg>gTg	p.A444V	ACSF2_ENST00000502667.1_Missense_Mutation_p.A406V|ACSF2_ENST00000504392.1_Missense_Mutation_p.A376V|ACSF2_ENST00000300441.4_Missense_Mutation_p.A419V|ACSF2_ENST00000541920.1_Missense_Mutation_p.A259V|ACSF2_ENST00000506085.1_3'UTR			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	419					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GTGACATTCGCGCACTTCCCT	0.562													33	54					0	0	0	0	T	48548429	C	T	48548429	3	4	297	1	0	0	0	0	1	0	0	0	175	768	27	1	1298	1	ACSF2	17	48548429	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	4452374	48548429	32646781	177	53291											
CACNA1G	8913	broad.mit.edu	37	chr17	48694921	48694921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcatcatgagggtgctgcGcattgcccgaggttggtgcc	5	9	15	12	3	1	1	1	1	0	0	1	2	1	1	3	3	4	4	3	3	0	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:48694921G>C	ENST00000352832.5	+	27	5414	c.5042G>C	c.(5041-5043)cGc>cCc	p.R1681P	CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1681P|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1715P|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1715P|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1697P|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1697P|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1670P|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1722P|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1692P|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1681P|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1670P|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1681P|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1715P|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1658P|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1715P|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1681P|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1715P|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1697P|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1674P|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1663P|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1692P	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1715					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGGTGCTGCGCATTGCCCGA	0.622													12	81					0	0	0	0	C	48694921	G	C	48694921	3	2	297	1	0	0	0	0	1	0	0	0	2569	1087	38	3	5525	3	CACNA1G	17	48694921	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	146492	48694921	32500289	178	53292											
MPO	4353	broad.mit.edu	37	chr17	56355336	56355336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggttggacatgttgcgcagGttcctggccaggggctcctc	4	11	15	11	1	0	0	0	0	0	0	3	1	2	1	3	6	1	5	3	6	0	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:56355336G>T	ENST00000340482.3	-	6	1328	c.1152C>A	c.(1150-1152)aaC>aaA	p.N384K	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000225275.3_Missense_Mutation_p.N352K			P05164	PERM_HUMAN	myeloperoxidase	352					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGTTGCGCAGGTTCCTGGCCA	0.642													26	78					1.42536e-11	1.68979e-11	1	0	T	56355336	G	T	56355336	3	4	297	1	0	0	0	0	1	0	0	0	9802	1252	44	4	1205	4	MPO	17	56355336	Missense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	7660415	56355336	24839874	179	53293											
KIAA0195	9772	broad.mit.edu	37	chr17	73485427	73485427	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcagtcggtgatgctacActatgctgtgcccgtggtcc	6	11	13	11	2	0	1	0	1	0	0	2	1	1	1	2	2	5	3	2	2	2	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:73485427A>G	ENST00000314256.7	+	8	1239	c.845A>G	c.(844-846)cAc>cGc	p.H282R	KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Missense_Mutation_p.H292R	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	282					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGATGCTACACTATGCTGTG	0.637													10	68					0	0	0	0	G	73485427	A	G	73485427	3	3	297	1	0	0	0	0	1	0	0	0	8211	159	6	5	871	5	KIAA0195	17	73485427	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	17130091	73485427	7709783	180	53294											
CEP192	55125	broad.mit.edu	37	chr18	13057679	13057679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcttaatccaactgacCgctggctgcaagtcagcatt	9	11	10	11	1	1	1	1	1	0	0	2	1	2	1	2	1	4	5	2	1	3	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr18:13057679C>T	ENST00000506447.1	+	20	4284	c.4204C>T	c.(4204-4206)Cgc>Tgc	p.R1402C	CEP192_ENST00000430049.2_Missense_Mutation_p.R927C|CEP192_ENST00000325971.8_Missense_Mutation_p.R806C	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	997										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCCAACTGACCGCTGGCTGCA	0.502													48	13					0	0	0	0	T	13057679	C	T	13057679	3	4	297	1	0	0	0	0	1	0	0	0	3280	652	23	1	4278	1	CEP192	18	13057679	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08		13057679	65019569	181	53295											
PIAS2	9063	broad.mit.edu	37	chr18	44424058	44424058	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctagttgtagcaatttCactatcaggatctgcagtaa	13	12	9	7	0	3	0	2	0	1	0	3	1	3	1	0	2	2	6	0	2	6	6			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr18:44424058C>A	ENST00000585916.1	-	8	999	c.1000G>T	c.(1000-1002)Gaa>Taa	p.E334*	PIAS2_ENST00000545673.1_Nonsense_Mutation_p.E44*|PIAS2_ENST00000324794.7_Nonsense_Mutation_p.E334*	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	334					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GTAGCAATTTCACTATCAGGA	0.294													24	23					5.61819e-17	7.0429e-17	1	0	A	44424058	C	A	44424058	4	1	297	1	0	0	0	0	0	1	0	0	11948	835	29	2	968	2	PIAS2	18	44424058	Nonsense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	31366379	44424058	33653190	182	53296											
MUC16	94025	broad.mit.edu	37	chr19	9082378	9082378	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggaactgaaatagagCttgcccatgtttctggagaa	12	10	12	7	0	1	3	0	1	1	2	1	5	1	4	1	3	3	3	1	3	4	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:9082378C>G	ENST00000397910.4	-	1	9640	c.9437G>C	c.(9436-9438)aGc>aCc	p.S3146T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3147	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						TGAAATAGAGCTTGCCCATGT	0.473													22	24					0	0	0	0	G	9082378	C	G	9082378	3	3	297	1	0	0	0	0	1	0	0	0	10043	797	28	4	34422	4	MUC16	19	9082378	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08		9082378	50046605	183	53297											
SMARCA4	6597	broad.mit.edu	37	chr19	11096928	11096928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccagccagtggcccgtCttcggggccccagatgtctt	5	10	12	14	2	2	1	0	0	2	1	4	1	3	1	5	3	1	1	5	3	0	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:11096928C>A	ENST00000358026.2	+	4	703	c.419C>A	c.(418-420)tCt>tAt	p.S140Y	SMARCA4_ENST00000450717.3_Missense_Mutation_p.S140Y|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S140Y|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S140Y|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S140Y|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S140Y|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S140Y|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S140Y|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S140Y	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	140	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGTGGCCCGTCTTCGGGGCCC	0.662			"F, N, Mis"		NSCLC								28	21					6.38683e-12	7.60614e-12	1	0	A	11096928	C	A	11096928	3	1	297	1	0	0	0	0	1	0	0	0	14858	913	32	2	429	2	SMARCA4	19	11096928	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	2014550	11096928	48032055	184	53298											
CYP4F11	57834	broad.mit.edu	37	chr19	16034706	16034706	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcatcaataccctgagtgggGagggtgcagcgccgctcctg	7	8	14	12	2	2	1	2	1	0	0	3	2	3	2	3	3	3	2	3	3	2	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:16034706G>A	ENST00000326742.7	-	6	835	c.834C>T	c.(832-834)ctC>ctT	p.L278L	CYP4F11_ENST00000402119.3_Silent_p.L278L|CYP4F11_ENST00000248041.7_Silent_p.L278L			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	278					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CCTGAGTGGGGAGGGTGCAGC	0.542													69	90					0	0	0	0	A	16034706	G	A	16034706	2	1	297	1	0	0	0	0	0	0	0	1	4218	1161	41	2		2	CYP4F11	19	16034706	Silent	SNP	G	TCGA-CV-7253-01A-11D-2012-08	4937778	16034706	43094277	185	53299											
FAM129C	199786	broad.mit.edu	37	chr19	17654420	17654420	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccttttgtgctgagccaaCtcgagccaggctgcaaaaag	11	9	10	11	1	0	1	0	1	0	0	1	2	0	1	3	1	6	3	3	1	4	3	rs10401716	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:17654420C>A	ENST00000335393.4	+	13	1765	c.1627C>A	c.(1627-1629)Ctc>Atc	p.L543I	FAM129C_ENST00000332386.5_Missense_Mutation_p.L543I|FAM129C_ENST00000601861.1_Missense_Mutation_p.L512I|FAM129C_ENST00000595684.1_Missense_Mutation_p.L543I|FAM129C_ENST00000600871.1_Missense_Mutation_p.L489I|FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000449408.2_Missense_Mutation_p.L269I|FAM129C_ENST00000599164.1_Missense_Mutation_p.L512I|FAM129C_ENST00000352727.3_Intron|FAM129C_ENST00000300971.2_Missense_Mutation_p.L543I	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	543			L -> F (in dbSNP:rs10401716).							autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GCTGAGCCAACTCGAGCCAGG	0.507													3	23					0.004672	0.00493574	1	0	A	17654420	C	A	17654420	3	1	297	1	0	0	0	0	1	0	0	0	5479	565	20	4	1677	4	FAM129C	19	17654420	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	1619714	17654420	41474563	186	53300											
B3GNT3	10331	broad.mit.edu	37	chr19	17918965	17918965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctggtgatcaagtcctccCctagcaactatgtgcgccgc	7	10	10	14	2	1	1	1	1	0	0	3	1	3	1	4	1	4	2	4	1	4	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:17918965C>T	ENST00000318683.6	+	2	496	c.349C>T	c.(349-351)Cct>Tct	p.P117S	B3GNT3_ENST00000595387.1_Missense_Mutation_p.P117S	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	117					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CAAGTCCTCCCCTAGCAACTA	0.667													9	32					0	0	0	0	T	17918965	C	T	17918965	3	4	297	1	0	0	0	0	1	0	0	0	1262	623	22	4	351	4	B3GNT3	19	17918965	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	264545	17918965	41210018	187	53301											
ZNF676	163223	broad.mit.edu	37	chr19	22363996	22363996	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagttaaaagctttgcCattttcttcacatttgtagg	10	15	8	8	0	2	0	1	0	1	0	2	1	2	1	2	2	2	3	2	2	3	7			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:22363996C>A	ENST00000397121.2	-	3	840	c.523G>T	c.(523-525)Ggc>Tgc	p.G175C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAGCTTTGCCATTTTCTTCA	0.338													25	33					8.24728e-16	1.0235e-15	1	0	A	22363996	C	A	22363996	3	1	297	1	0	0	0	0	1	0	0	0	18178	594	21	4	1247	4	ZNF676	19	22363996	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	4445031	22363996	36764987	188	53302											
ZNF536	9745	broad.mit.edu	37	chr19	30936598	30936598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctctcccagaccgggagtgCccaggaggacagcccgcacc	8	3	12	18	2	1	1	0	0	1	1	2	4	1	4	6	3	2	1	6	3	0	0			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:30936598C>A	ENST00000355537.3	+	2	2276	c.2129C>A	c.(2128-2130)gCc>gAc	p.A710D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCGGGAGTGCCCAGGAGGAC	0.682													4	60					0.00909568	0.0094943	1	0	A	30936598	C	A	30936598	3	1	297	1	0	0	0	0	1	0	0	0	18069	739	26	4	2131	4	ZNF536	19	30936598	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	8572602	30936598	28192385	189	53303											
ZFP14	57677	broad.mit.edu	37	chr19	36853054	36853054	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagttctcccacattacatcCctatataagtccctctgagc	10	13	4	14	0	2	1	0	1	2	0	5	1	4	1	3	0	2	1	3	0	5	6			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:36853054C>T	ENST00000270001.7	-	3	211	c.96G>A	c.(94-96)agG>agA	p.R32R	ZFP14_ENST00000589280.1_Silent_p.R32R	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ACATTACATCCCTATATAAGT	0.403													8	48					0	0	0	0	T	36853054	C	T	36853054	2	4	297	1	0	0	0	0	0	0	0	1	17734	622	22	4		4	ZFP14	19	36853054	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	5916456	36853054	22275929	190	53304											
ZFP36	7538	broad.mit.edu	37	chr19	39899199	39899199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacagtccctgggatccgacCctgatgaatatgccagcagc	10	8	10	13	1	0	2	0	2	0	0	2	4	2	3	4	1	4	1	4	1	3	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:39899199C>A	ENST00000597629.1	+	2	933	c.859C>A	c.(859-861)Cct>Act	p.P287T	ZFP36_ENST00000248673.3_Missense_Mutation_p.P281T			P26651	TTP_HUMAN	ZFP36 ring finger protein	281					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGATCCGACCCTGATGAATA	0.667													26	82					7.41945e-09	8.67811e-09	1	0	A	39899199	C	A	39899199	3	1	297	1	0	0	0	0	1	0	0	0	17740	623	22	4	847	4	ZFP36	19	39899199	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	3046145	39899199	19229784	191	53305											
HIPK4	147746	broad.mit.edu	37	chr19	40886277	40886277	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgggcccatcctcatctcGctgcaggatggccagtggct	5	10	13	13	1	2	0	1	0	1	0	4	1	3	1	3	4	1	4	3	4	0	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:40886277G>A	ENST00000291823.2	-	3	1905	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	541						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TCCTCATCTCGCTGCAGGATG	0.622													38	76					0	0	0	0	A	40886277	G	A	40886277	4	1	297	1	0	0	0	0	0	1	0	0	7169	1095	38	1	237	1	HIPK4	19	40886277	Nonsense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08	987078	40886277	18242706	192	53306											
RCN3	57333	broad.mit.edu	37	chr19	50046458	50046458	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacctgacccggcaccaCgatgagctgtgagcaccgcg	9	4	14	14	4	0	3	0	3	0	0	0	6	0	4	4	2	2	3	4	2	0	0	rs149927163		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:50046458C>T	ENST00000270645.3	+	7	1422	c.975C>T	c.(973-975)caC>caT	p.H325H		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	325						endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CCCGGCACCACGATGAGCTGT	0.647													10	27					0	0	0	0	T	50046458	C	T	50046458	2	4	297	1	0	0	0	0	0	0	0	1	13263	535	19	1		1	RCN3	19	50046458	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	9160181	50046458	9082525	193	53307											
PRR12	57479	broad.mit.edu	37	chr19	50105149	50105149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgggacgagttcgtcatcCgtgctgaggacatcccttcc	8	9	11	13	4	1	1	1	1	0	0	5	4	4	3	3	2	2	2	3	2	1	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:50105149C>T	ENST00000418929.2	+	6	4759	c.4747C>T	c.(4747-4749)Cgt>Tgt	p.R1583C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	762							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)		GTTCGTCATCCGTGCTGAGGA	0.612													4	32					0	0	0	0	T	50105149	C	T	50105149	3	4	297	1	0	0	0	0	1	0	0	0	12664	652	23	1	4769	1	PRR12	19	50105149	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	58691	50105149	9023834	194	53308											
CD33	945	broad.mit.edu	37	chr19	51728815	51728815	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagagaggaagtaccaaaTacagttacaaatctccccag	16	7	9	9	0	1	1	0	0	1	1	2	4	1	3	3	2	3	2	3	2	6	3	rs146181856	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:51728815T>C	ENST00000262262.4	+	2	400	c.379T>C	c.(379-381)Tac>Cac	p.Y127H	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.Y127H	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	127	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AAGTACCAAATACAGTTACAA	0.532													53	44					0	0	0	0	C	51728815	T	C	51728815	3	2	297	1	0	0	0	0	1	0	0	0	3034	1406	49	5	385	5	CD33	19	51728815	Missense_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	1623666	51728815	7400168	195	53309											
NLRP5	126206	broad.mit.edu	37	chr19	56539846	56539846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcccaagagatgagtcCgctgaggcatgtcctgtggt	8	11	12	10	1	1	3	0	2	1	1	4	4	4	3	3	2	0	2	3	2	1	1	rs149649207	by1000genomes	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:56539846C>T	ENST00000390649.3	+	7	2247	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	749						mitochondrion|nucleolus	ATP binding	p.S749S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGATGAGTCCGCTGAGGCAT	0.517													19	290					0	0	0	0	T	56539846	C	T	56539846	2	4	297	1	0	0	0	0	0	0	0	1	10550	639	23	1		1	NLRP5	19	56539846	Silent	SNP	C	TCGA-CV-7253-01A-11D-2012-08	4811031	56539846	2589137	196	53310											
PLCB4	5332	broad.mit.edu	37	chr20	9391725	9391725	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaaaatttgagtataatGgatcgtgcgggtgagtaata	14	11	14	2	2	0	2	0	2	0	0	1	4	0	4	0	3	1	2	0	3	6	5			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr20:9391725G>T	ENST00000378501.2	+	21	2020	c.2005G>T	c.(2005-2007)Gga>Tga	p.G669*	PLCB4_ENST00000334005.3_Nonsense_Mutation_p.G669*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.G681*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.G669*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.G681*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.G669*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	669	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAGTATAATGGATCGTGCGG	0.368													12	35					7.03913e-09	8.27018e-09	1	0	T	9391725	G	T	9391725	4	4	297	1	0	0	0	0	0	1	0	0	12102	1349	47	4	2127	4	PLCB4	20	9391725	Nonsense_Mutation	SNP	G	TCGA-CV-7253-01A-11D-2012-08		9391725	53633795	197	53311											
PAX1	5075	broad.mit.edu	37	chr20	21695398	21695398	+	Frame_Shift_Del	DEL	T	T	-																															gccggacccaccacacttccTttattggtctgggtttttag																										TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr20:21695398delT	ENST00000398485.2	+	5	1616	c.1562delT	c.(1561-1563)ctfs	p.L521fs	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	521					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCACACTTCCTTTATTGGTCT	0.637													15	44	---	---	---	---					-	21695398	T	-	21695398	7	5	297	1	0	1	0	1	0	0	0	0	11549	1609	56	0	1580	0	PAX1	20	21695398	Frame_Shift_Del	DEL	T	TCGA-CV-7253-01A-11D-2012-08	12303673	21695398	41330122	198	53312											
KIF3B	9371	broad.mit.edu	37	chr20	30904034	30904034	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactcaggccatggagagtaAgttgcttgttggaggaaaaa	13	9	13	6	0	1	1	1	0	0	1	1	4	1	3	1	4	1	4	1	4	3	4			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr20:30904034A>C	ENST00000375712.3	+	3	1585	c.1418A>C	c.(1417-1419)aAg>aCg	p.K473T	KIF3B_ENST00000418717.2_Missense_Mutation_p.K99T	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	473					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|plus-end-directed microtubule motor activity|Rho GTPase binding			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)			ATGGAGAGTAAGTTGCTTGTT	0.408													11	79					0	0	0	0	C	30904034	A	C	30904034	3	2	297	1	0	0	0	0	1	0	0	0	8352	72	3	5	1424	5	KIF3B	20	30904034	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	9208636	30904034	32121486	199	53313											
ZBP1	81030	broad.mit.edu	37	chr20	56189965	56189965	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcggtaaatcgtccatgcTttggactgctcatccatgtc	7	12	11	11	2	1	0	1	0	0	0	5	1	3	1	2	3	2	3	2	3	2	2			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr20:56189965T>C	ENST00000340462.4	-	3	691	c.411A>G	c.(409-411)aaA>aaG	p.K137K	ZBP1_ENST00000371173.3_Silent_p.K160K|ZBP1_ENST00000343535.4_Silent_p.K160K|ZBP1_ENST00000541799.1_Silent_p.K160K|ZBP1_ENST00000395822.3_Silent_p.K85K			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	160						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCGTCCATGCTTTGGACTGCT	0.557													57	121					0	0	0	0	C	56189965	T	C	56189965	2	2	297	1	0	0	0	0	0	0	0	1	17616	1606	56	5		5	ZBP1	20	56189965	Silent	SNP	T	TCGA-CV-7253-01A-11D-2012-08	25285931	56189965	6835555	200	53314											
BAGE2	85319	broad.mit.edu	37	chr21	11039387	11039387	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacattttcatttcttcaCtatcagcctcattagaaatc	13	15	3	10	0	5	2	4	0	1	2	6	2	5	2	1	0	1	0	1	0	4	6			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr21:11039387C>G	ENST00000470054.1	-	0	816									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATTTCTTCACTATCAGCCTC	0.328													9	184					0	0	0	0	G	11039387	C	G	11039387	1	3	297	0	1	0	0	0	0	0	0	0	1296	580	20	4		4	BAGE2	21	11039387	RNA	SNP	C	TCGA-CV-7253-01A-11D-2012-08		11039387	37090508	201	53315											
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744004	31744004	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttaaaaggtctggaaatTcagcaagttgatctgcagaa	14	11	10	6	0	3	2	1	1	2	1	3	3	3	3	0	2	3	4	0	2	5	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr21:31744004T>A	ENST00000399889.2	-	1	553	c.528A>T	c.(526-528)tgA>tgT	p.*176C		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	0						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GTCTGGAAATTCAGCAAGTTG	0.468													4	53					0	0	0	0	A	31744004	T	A	31744004	4	1	297	1	0	0	0	0	0	0	0	0	8575	1796	62	5	3	5	KRTAP13-2	21	31744004	Nonstop_Mutation	SNP	T	TCGA-CV-7253-01A-11D-2012-08	20704617	31744004	16385891	202	53316											
RIPK4	54101	broad.mit.edu	37	chr21	43166897	43166898	+	Frame_Shift_Ins	INS	-	-	A																															cggggcggtggcccttcaccINSaccttcaccatgatgtgcag																										TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr21:43166897_43166898insA	ENST00000352483.2	-	5	771_772	c.707_708insT	c.(706-708)ggtfs	p.G236fs	RIPK4_ENST00000542057.1_Frame_Shift_Ins_p.G173fs|RIPK4_ENST00000544709.1_Frame_Shift_Ins_p.G173fs|RIPK4_ENST00000332512.3_Frame_Shift_Ins_p.G236fs			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	236						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						GGCCCTTCACCACCTTCACCAT	0.663													16	149	---	---	---	---					A	43166898	-	A	43166897	7	5	297	1	0	1	1	0	0	0	0	0	13468	581	21	0	1662	0	RIPK4	21	43166897	Frame_Shift_Ins	INS	-	TCGA-CV-7253-01A-11D-2012-08	11422893	43166897	4962998	203	53317											
KDM6A	7403	broad.mit.edu	37	chrX	44942704	44942704	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgttattttattgcaGgtggaagttgcagctacatg	9	16	12	4	0	0	1	0	1	0	0	0	2	0	2	0	2	4	5	0	2	4	6			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chrX:44942704G>A	ENST00000377967.4	+	23	3325		c.e23-1		KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTTTATTGCAGGTGGAAGTTG	0.393			"D, N, F, S"		"renal, oesophageal SCC, MM"								8	2					0	0	0	0	A	44942704	G	A	44942704	5	1	297	1	0	0	0	0	0	0	1	0	8189	1014	35	4	3374	4	KDM6A	23	44942704	Splice_Site	SNP	G	TCGA-CV-7253-01A-11D-2012-08		44942704	110327856	204	53318											
TAF1	6872	broad.mit.edu	37	chrX	70674608	70674608	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatgatgaacatttgacTcaacttgagaaggatatttg	14	13	9	5	0	1	4	1	4	0	1	1	6	1	5	0	1	2	1	0	1	5	5			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chrX:70674608T>C	ENST00000449580.1	+	34	4887	c.4836T>C	c.(4834-4836)acT>acC	p.T1612T	TAF1_ENST00000423759.1_Silent_p.T1633T|TAF1_ENST00000373790.4_Silent_p.T1612T|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000276072.3_Silent_p.T1633T			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1612	Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AACATTTGACTCAACTTGAGA	0.378													13	3					0	0	0	0	C	70674608	T	C	70674608	2	2	297	1	0	0	0	0	0	0	0	1	15604	1538	54	5		5	TAF1	23	70674608	Silent	SNP	T	TCGA-CV-7253-01A-11D-2012-08	25731904	70674608	84595952	205	53319											
ARMCX5	64860	broad.mit.edu	37	chrX	101857289	101857289	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggaggctatggctgtgAcaagggaagtgatcaaggtg	12	7	17	5	0	1	2	1	2	0	0	1	4	1	4	0	5	0	2	0	5	4	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chrX:101857289A>T	ENST00000604957.1	+	1	2842	c.220A>T	c.(220-222)Aca>Tca	p.T74S	ARMCX5_ENST00000537008.1_Missense_Mutation_p.T74S|ARMCX5_ENST00000246174.2_Missense_Mutation_p.T74S|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.T74S|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.T74S|ARMCX5_ENST00000372742.1_Missense_Mutation_p.T74S	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	74							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TATGGCTGTGACAAGGGAAGT	0.483													26	25					0	0	0	0	T	101857289	A	T	101857289	3	4	297	1	0	0	0	0	1	0	0	0	966	275	10	5	222	5	ARMCX5	23	101857289	Missense_Mutation	SNP	A	TCGA-CV-7253-01A-11D-2012-08	31182681	101857289	53413271	206	53320											
COL4A6	1288	broad.mit.edu	37	chrX	107413937	107413937	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcctctcatgccggcaactCctggaaatcctaaatgtgaa	11	10	7	13	1	1	1	1	1	1	0	5	2	4	2	4	2	2	1	4	2	5	1			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chrX:107413937C>G	ENST00000394872.2	-	35	3629	c.3398G>C	c.(3397-3399)gGa>gCa	p.G1133A	COL4A6_ENST00000538570.1_Missense_Mutation_p.G1132A|COL4A6_ENST00000372216.4_Missense_Mutation_p.G1133A|COL4A6_ENST00000545689.1_Missense_Mutation_p.G1132A|COL4A6_ENST00000334504.7_Missense_Mutation_p.G1132A			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1133	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCCGGCAACTCCTGGAAATCC	0.493									Alport syndrome with Diffuse Leiomyomatosis				21	78					0	0	0	0	G	107413937	C	G	107413937	3	3	297	1	0	0	0	0	1	0	0	0	3725	855	30	2	1721	2	COL4A6	23	107413937	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	5556648	107413937	47856623	207	53321											
GLUD2	2747	broad.mit.edu	37	chrX	120182629	120182629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctgggcttccccaaggCaaagccctatgaaggaagca	12	7	10	12	0	1	1	0	1	1	0	2	2	2	2	3	3	2	3	3	3	5	3			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chrX:120182629C>A	ENST00000328078.1	+	1	1168	c.1091C>A	c.(1090-1092)gCa>gAa	p.A364E		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	364					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTCCCCAAGGCAAAGCCCTAT	0.493													85	33					1.3515e-34	1.76166e-34	1	0	A	120182629	C	A	120182629	3	1	297	1	0	0	0	0	1	0	0	0	6528	710	25	4	1093	4	GLUD2	23	120182629	Missense_Mutation	SNP	C	TCGA-CV-7253-01A-11D-2012-08	12768692	120182629	35087931	208	53322											
TTLL10	254173	broad.mit.edu	37	chr1	1120451	1120451	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacacgttctggaaggccCggggcctcgccaaggactgg	7	6	16	12	3	1	1	0	1	1	0	2	3	1	3	3	6	0	1	3	6	2	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:1120451C>A	ENST00000379290.1	+	13	1536	c.1363C>A	c.(1363-1365)Cgg>Agg	p.R455R	TTLL10_ENST00000379288.3_Silent_p.R382R|TTLL10_ENST00000379289.1_Silent_p.R455R			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	455	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGAAGGCCCGGGGCCTCGC	0.612													14	14					9.31168e-06	2.40602e-05	1	0	A	1120451	C	A	1120451	2	1	298	1	0	0	0	0	0	0	0	1	16819	643	23	3		3	TTLL10	1	1120451	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08		1120451	248130170	1	53323											
NBPF1	55672	broad.mit.edu	37	chr1	16895686	16895686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagtcgaataaccttcatcCcaggactcctgggggacttc	10	9	10	12	1	1	1	1	0	0	1	5	4	3	3	3	3	1	0	3	3	2	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:16895686C>A	ENST00000430580.2	-	23	3383	c.2496G>T	c.(2494-2496)tgG>tgT	p.W832C	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	832	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AACCTTCATCCCAGGACTCCT	0.483													8	343					0.000442599	0.00107431	1	0	A	16895686	C	A	16895686	3	1	298	1	0	0	0	0	1	0	0	0	10262	624	22	4	956	4	NBPF1	1	16895686	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	15775235	16895686	232354935	2	53324											
FPGT	8790	broad.mit.edu	37	chr1	74670983	74670983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctgtggcacctggctcaGttgtggagtattccagattg	6	14	13	8	0	2	1	1	0	1	1	3	2	3	2	2	3	0	5	2	3	1	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:74670983G>T	ENST00000370898.2	+	4	1289	c.1252G>T	c.(1252-1254)Gtt>Ttt	p.V418F	FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370894.4_Missense_Mutation_p.Q145H|FPGT_ENST00000534056.1_Missense_Mutation_p.V164F|FPGT_ENST00000524915.1_Intron|TNNI3K_ENST00000370893.1_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ACCTGGCTCAGTTGTGGAGTA	0.433													44	52					9.39024e-22	3.03289e-21	1	0	T	74670983	G	T	74670983	3	4	298	1	0	0	0	0	1	0	0	0	6084	1029	36	4	1266	4	FPGT	1	74670983	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	57775297	74670983	174579638	3	53325											
NEXN	91624	broad.mit.edu	37	chr1	78390878	78390878	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcattcaatagattgaGgacataaacaatacgggaac	17	10	7	7	1	2	2	2	1	1	1	3	4	2	4	0	2	3	0	0	2	7	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:78390878G>A	ENST00000330010.8	+	5	558	c.261G>A	c.(259-261)gaG>gaA	p.E87E	NEXN_ENST00000457030.1_Intron|NEXN_ENST00000334785.7_Silent_p.E151E	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	151	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AATAGATTGAGGACATAAACA	0.289													4	9					0	0	0	0	A	78390878	G	A	78390878	2	1	298	1	0	0	0	0	0	0	0	1	10425	991	35	4		4	NEXN	1	78390878	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	3719895	78390878	170859743	4	53326											
VAV3	10451	broad.mit.edu	37	chr1	108247231	108247231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacattctttgtgtgctctcGctccacacttaaaacataaa	13	13	4	11	1	2	0	0	0	2	0	4	0	3	0	1	0	3	2	1	0	5	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:108247231G>A	ENST00000370056.4	-	17	1920	c.1646C>T	c.(1645-1647)gCg>gTg	p.A549V	VAV3_ENST00000371846.4_Missense_Mutation_p.A484V|VAV3_ENST00000527011.1_Missense_Mutation_p.A549V|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	549					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GTGTGCTCTCGCTCCACACTT	0.358													19	26					0	0	0	0	A	108247231	G	A	108247231	3	1	298	1	0	0	0	0	1	0	0	0	17229	1087	38	1	966	1	VAV3	1	108247231	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	29856353	108247231	141003390	5	53327											
CELSR2	1952	broad.mit.edu	37	chr1	109815846	109815858	+	Frame_Shift_Del	DEL	AGAGAGTAGTGGC	AGAGAGTAGTGGC	-																															gactttgggaccacagcaaaAgagagtagtggcaacggggc																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:109815846_109815858delAGAGAGTAGTGGC	ENST00000271332.3	+	32	8458_8470	c.8397_8409delAGAGAGTAGTGGC	c.(8395-8409)aafs	p.KESSG2799fs	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2799					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCACAGCAAAAGAGAGTAGTGGCAACGGGGCCC	0.638													16	72	---	---	---	---					-	109815858	AGAGAGTAGTGGC	-	109815846	7	5	298	1	0	1	0	1	0	0	0	0	3251	69	3	0	8523	0	CELSR2	1	109815846	Frame_Shift_Del	DEL	AGAGAGTAGTGGC	TCGA-CV-7254-01A-11D-2012-08	1568615	109815846	139434775	6	53328											
PTGFRN	5738	broad.mit.edu	37	chr1	117504234	117504234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaacagcggaacaacagctGggtgaaaagcaaggatgtct	16	5	12	8	1	1	1	0	1	1	0	1	3	1	3	0	3	6	2	0	3	6	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:117504234G>T	ENST00000393203.2	+	5	1730	c.1583G>T	c.(1582-1584)tGg>tTg	p.W528L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	528	Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AACAACAGCTGGGTGAAAAGC	0.413													19	26					1.45105e-14	4.43623e-14	1	0	T	117504234	G	T	117504234	3	4	298	1	0	0	0	0	1	0	0	0	12830	1357	47	4	1601	4	PTGFRN	1	117504234	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	7688388	117504234	131746387	7	53329											
ANP32E	81611	broad.mit.edu	37	chr1	150202958	150202958	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttccactcagattgaggTaggtaagatttggacatttc	10	15	10	6	0	1	3	1	1	0	2	3	4	2	4	1	3	0	3	1	3	2	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:150202958T>G	ENST00000314136.8	-	3	644	c.275A>C	c.(274-276)tAc>tCc	p.Y92S	ANP32E_ENST00000369114.5_Missense_Mutation_p.Y92S|ANP32E_ENST00000533654.1_Missense_Mutation_p.Y92S|ANP32E_ENST00000369115.2_Intron|ANP32E_ENST00000436748.2_Intron|ANP32E_ENST00000369119.3_Missense_Mutation_p.Y44S|ANP32E_ENST00000369116.4_Intron	NM_001136478.2|NM_030920.3	NP_001129950.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	92						cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGATTGAGGTAGGTAAGATT	0.358													4	43					0	0	0	0	G	150202958	T	G	150202958	3	3	298	1	0	0	0	0	1	0	0	0	708	1638	57	5	551	5	ANP32E	1	150202958	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	32698724	150202958	99047663	8	53330											
FLG	2312	broad.mit.edu	37	chr1	152277899	152277899	+	Frame_Shift_Del	DEL	G	G	-																															tgcacttctggatcctgactGcccacgggaggcatcagacc																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152277899delG	ENST00000368799.1	-	3	9498	c.9463delC	c.(9463-9465)agfs	p.Q3155fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3155	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCTGACTGCCCACGGGAG	0.557									Ichthyosis				30	225	---	---	---	---					-	152277899	G	-	152277899	7	5	298	1	0	1	0	1	0	0	0	0	5967	1328	46	0	2726	0	FLG	1	152277899	Frame_Shift_Del	DEL	G	TCGA-CV-7254-01A-11D-2012-08	2074941	152277899	96972722	9	53331			1	82		3	3	1035	N	G_C	4.624735e-05
FLG	2312	broad.mit.edu	37	chr1	152278871	152278871	+	Frame_Shift_Del	DEL	G	G	-																															tgcacttctggatcctgactGcccacgggaggcatcagacc																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152278871delG	ENST00000368799.1	-	3	8526	c.8491delC	c.(8491-8493)agfs	p.Q2831fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2831	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCTGACTGCCCACGGGAG	0.572									Ichthyosis				66	671	---	---	---	---					-	152278871	G	-	152278871	7	5	298	1	0	1	0	1	0	0	0	0	5967	1328	46	0	3698	0	FLG	1	152278871	Frame_Shift_Del	DEL	G	TCGA-CV-7254-01A-11D-2012-08	972	152278871	96971750	10	53332			1	82		3	3	1035	N	G_C	4.624735e-05
FLG	2312	broad.mit.edu	37	chr1	152278933	152278933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgatgggaccctgagtgtCcagagctatctaccgaatgc	9	10	12	10	1	1	3	0	2	1	1	2	5	2	4	3	1	3	1	3	1	3	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152278933C>A	ENST00000368799.1	-	3	8464	c.8429G>T	c.(8428-8430)gGa>gTa	p.G2810V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2810	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAGTGTCCAGAGCTATC	0.577									Ichthyosis				67	499					1.77486e-58	6.024e-58	1	0	A	152278933	C	A	152278933	3	1	298	1	0	0	0	0	1	0	0	0	5967	855	30	2	3760	2	FLG	1	152278933	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	62	152278933	96971688	11	53333			1	82		3	3	1035	N	G_C	4.624735e-05
LCE3A	353142	broad.mit.edu	37	chr1	152595358	152595358	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctggagctcccgccttgCtgaccacttcccctgtcaca	6	9	8	18	1	1	1	1	1	0	0	3	2	3	2	5	1	3	3	5	1	0	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152595358C>T	ENST00000335674.1	-	1	221	c.222G>A	c.(220-222)caG>caA	p.Q74Q		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	74					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCGCCTTGCTGACCACTTC	0.567													15	108					0	0	0	0	T	152595358	C	T	152595358	2	4	298	1	0	0	0	0	0	0	0	1	8722	796	28	4		4	LCE3A	1	152595358	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	316425	152595358	96655263	12	53334											
FCRL4	83417	broad.mit.edu	37	chr1	157557331	157557331	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagagtctgtagctttcagCtctggatgtggaaatagttc	9	14	12	6	0	3	1	1	1	2	1	4	4	3	3	0	2	2	4	0	2	3	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:157557331C>A	ENST00000271532.1	-	5	717	c.582G>T	c.(580-582)gaG>gaT	p.E194D	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	194	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TAGCTTTCAGCTCTGGATGTG	0.483													13	125					0.000151284	0.000372858	1	0	A	157557331	C	A	157557331	3	1	298	1	0	0	0	0	1	0	0	0	5842	796	28	4	997	4	FCRL4	1	157557331	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	4961973	157557331	91693290	13	53335											
FCRL2	79368	broad.mit.edu	37	chr1	157740241	157740241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgaagttttatcccagaGaaagagttgtcctttggtac	11	15	9	6	0	0	3	0	1	0	2	2	4	2	3	2	1	1	3	2	1	4	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:157740241G>A	ENST00000361516.3	-	3	316	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	FCRL2_ENST00000392274.3_Missense_Mutation_p.L90F|FCRL2_ENST00000368181.4_Missense_Mutation_p.L90F	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	90	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTATCCCAGAGAAAGAGTTGT	0.403													14	62					0	0	0	0	A	157740241	G	A	157740241	3	1	298	1	0	0	0	0	1	0	0	0	5840	942	33	2	1298	2	FCRL2	1	157740241	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	182910	157740241	91510380	14	53336											
ATF6	22926	broad.mit.edu	37	chr1	161789450	161789450	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctaaggagacagcaacgtAtgataaaaaatcgagaatcc	18	7	9	7	2	0	3	0	1	0	2	2	5	1	3	1	1	3	3	1	1	7	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:161789450A>G	ENST00000367942.3	+	8	1004	c.937A>G	c.(937-939)Atg>Gtg	p.M313V		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	313					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ACAGCAACGTATGATAAAAAA	0.368													4	54					0	0	0	0	G	161789450	A	G	161789450	3	3	298	1	0	0	0	0	1	0	0	0	1088	449	16	5	967	5	ATF6	1	161789450	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	4049209	161789450	87461171	15	53337											
MGST3	4259	broad.mit.edu	37	chr1	165624685	165624685	+	Missense_Mutation	SNP	C	C	A																															caactgtgtgctctgctttcCagcatcttggttgggttaaa																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:165624685C>A	ENST00000367889.3	+	6	843	c.403C>A	c.(403-405)Cag>Aag	p.Q135K	MGST3_ENST00000367883.1_Missense_Mutation_p.Q149K|MGST3_ENST00000367885.1_Missense_Mutation_p.Q149K|MGST3_ENST00000367888.4_Intron|MGST3_ENST00000367884.1_Missense_Mutation_p.Q135K|MGST3_ENST00000367886.2_Missense_Mutation_p.Q149K|MGST3_ENST00000404549.1_Missense_Mutation_p.Q149K	NM_004528.3	NP_004519.1	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	135					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	CTCTGCTTTCCAGCATCTTGG	0.473													12	34					0.00010058	0.000248656	1	0	A	165624685	C	A	165624685	3	1	298	1	0	0	0	0	1	0	0	0	9631	595	21	4	421	4	MGST3	1	165624685	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	3835235	165624685	83625936	16	53338	420	2									
MGST3	4259	broad.mit.edu	37	chr1	165624686	165624686	+	Missense_Mutation	SNP	A	A	T																															aactgtgtgctctgctttccAgcatcttggttgggttaaaa																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:165624686A>T	ENST00000367889.3	+	6	844	c.404A>T	c.(403-405)cAg>cTg	p.Q135L	MGST3_ENST00000367883.1_Missense_Mutation_p.Q149L|MGST3_ENST00000367885.1_Missense_Mutation_p.Q149L|MGST3_ENST00000367888.4_Intron|MGST3_ENST00000367884.1_Missense_Mutation_p.Q135L|MGST3_ENST00000367886.2_Missense_Mutation_p.Q149L|MGST3_ENST00000404549.1_Missense_Mutation_p.Q149L	NM_004528.3	NP_004519.1	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	135					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	TCTGCTTTCCAGCATCTTGGT	0.473													12	34					0	0	0	0	T	165624686	A	T	165624686	3	4	298	1	0	0	0	0	1	0	0	0	9631	188	7	5	422	5	MGST3	1	165624686	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	1	165624686	83625935	17	53339	420	2									
F5	2153	broad.mit.edu	37	chr1	169512317	169512317	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcctcagctttttgcttcTtggactagaattcatggaag	9	14	9	9	0	3	1	2	0	1	1	3	3	3	3	1	2	3	2	1	2	3	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:169512317T>C	ENST00000367796.3	-	13	2227	c.2026A>G	c.(2026-2028)Aga>Gga	p.R676G	F5_ENST00000367797.3_Missense_Mutation_p.R671G			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	671	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTTTGCTTCTTGGACTAGAA	0.383													19	52					0	0	0	0	C	169512317	T	C	169512317	3	2	298	1	0	0	0	0	1	0	0	0	5386	1617	56	5	4715	5	F5	1	169512317	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	3887631	169512317	79738304	18	53340											
F13B	2165	broad.mit.edu	37	chr1	197024991	197024991	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgcaacagccccattcAttacaacaggaggatgctta	12	9	8	12	1	2	0	1	0	1	0	2	2	2	2	2	2	6	2	2	2	4	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:197024991A>T	ENST00000367412.1	-	8	1251	c.1208T>A	c.(1207-1209)aTg>aAg	p.M403K		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	403	Sushi 7.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AGCCCCATTCATTACAACAGG	0.343													4	56					0	0	0	0	T	197024991	A	T	197024991	3	4	298	1	0	0	0	0	1	0	0	0	5379	217	8	5	797	5	F13B	1	197024991	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	27512674	197024991	52225630	19	53341											
ASPM	259266	broad.mit.edu	37	chr1	197071613	197071613	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcatttttaaatgtctTctagctttctttcccctaaa	9	19	3	10	0	4	0	1	0	3	0	5	0	5	0	2	0	2	2	2	0	5	8			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:197071613T>A	ENST00000367409.4	-	18	7024	c.6768A>T	c.(6766-6768)agA>agT	p.R2256S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2256	IQ 20.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTAAATGTCTTCTAGCTTTCT	0.348													25	127					0	0	0	0	A	197071613	T	A	197071613	3	1	298	1	0	0	0	0	1	0	0	0	1060	1780	62	5	3709	5	ASPM	1	197071613	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	46622	197071613	52179008	20	53342											
KIF14	9928	broad.mit.edu	37	chr1	200522870	200522870	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atactttcaacacaagtctgGagaagatttatatcactatg	15	13	6	7	0	3	2	2	0	1	2	3	3	3	2	0	1	2	0	0	1	7	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:200522870G>A	ENST00000367350.4	-	30	5031	c.4593C>T	c.(4591-4593)ctC>ctT	p.L1531L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1531	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CACAAGTCTGGAGAAGATTTA	0.383													15	54					0	0	0	0	A	200522870	G	A	200522870	2	1	298	1	0	0	0	0	0	0	0	1	8327	1161	41	2		2	KIF14	1	200522870	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	3451257	200522870	48727751	21	53343											
C1orf186	440712	broad.mit.edu	37	chr1	206243246	206243247	+	Frame_Shift_Ins	INS	-	-	G																															aagccatgccagacctccatINSgactctgttgggaaagaaaa																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:206243246_206243247insG	ENST00000331555.5	-	3	653_654	c.15_16insC	c.(13-18)gttggafs	p.G6fs		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	6						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CAGACCTCCATGACTCTGTTGG	0.525													10	68	---	---	---	---					G	206243247	-	G	206243246	7	5	298	1	0	1	1	0	0	0	0	0	2039	1464	51	0	518	0	C1orf186	1	206243246	Frame_Shift_Ins	INS	-	TCGA-CV-7254-01A-11D-2012-08	5720376	206243246	43007375	22	53344											
CR1	1378	broad.mit.edu	37	chr1	207755303	207755303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgttagtcattgtgtcttgGttggaatgagaagcctttgg	7	15	13	6	1	2	1	1	1	1	1	2	3	2	2	2	3	1	2	2	3	3	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:207755303G>T	ENST00000367049.4	+	32	5257	c.5257G>T	c.(5257-5259)Gtt>Ttt	p.V1753F	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.V1303F|CR1_ENST00000367051.1_Missense_Mutation_p.V1303F|CR1_ENST00000400960.2_Missense_Mutation_p.V1303F|CR1_ENST00000367053.1_Missense_Mutation_p.V1303F|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1303	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTGTGTCTTGGTTGGAATGAG	0.408													23	76					2.41591e-17	7.61868e-17	1	0	T	207755303	G	T	207755303	3	4	298	1	0	0	0	0	1	0	0	0	3870	1261	44	4	5383	4	CR1	1	207755303	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	1512057	207755303	41495318	23	53345											
KCNH1	3756	broad.mit.edu	37	chr1	211192294	211192294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtcttcaggtagttcatgCggataagtttggggtcagaa	10	12	13	6	2	4	1	3	0	1	1	4	2	4	2	0	4	1	3	0	4	3	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:211192294C>T	ENST00000367007.4	-	6	1032	c.863G>A	c.(862-864)cGc>cAc	p.R288H	KCNH1_ENST00000271751.4_Missense_Mutation_p.R288H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	288					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTAGTTCATGCGGATAAGTTT	0.448													31	97					0	0	0	0	T	211192294	C	T	211192294	3	4	298	1	0	0	0	0	1	0	0	0	8084	768	27	1	2130	1	KCNH1	1	211192294	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	3436991	211192294	38058327	24	53346											
PROX1	5629	broad.mit.edu	37	chr1	214171271	214171271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggccaccaccagcccctgCaccagtcgcctctctctgcc	5	6	8	22	2	2	0	0	0	2	0	4	0	2	0	8	1	3	1	8	1	0	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:214171271C>A	ENST00000366958.4	+	2	2001	c.1393C>A	c.(1393-1395)Cac>Aac	p.H465N	PROX1_ENST00000261454.4_Missense_Mutation_p.H465N|PROX1_ENST00000498508.2_Missense_Mutation_p.H465N|PROX1_ENST00000435016.1_Missense_Mutation_p.H465N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	465					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCAGCCCCTGCACCAGTCGCC	0.632													15	144					7.93312e-07	2.11814e-06	1	0	A	214171271	C	A	214171271	3	1	298	1	0	0	0	0	1	0	0	0	12640	710	25	4	1395	4	PROX1	1	214171271	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	2978977	214171271	35079350	25	53347											
USH2A	7399	broad.mit.edu	37	chr1	216258196	216258196	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtacatccttgagacagcCcacaaaacctttttggatta	13	12	6	10	0	0	1	0	1	0	1	1	3	1	2	3	1	3	1	3	1	4	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:216258196C>A	ENST00000366943.2	-	25	5397	c.5011G>T	c.(5011-5013)Ggc>Tgc	p.G1671C	RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.G1671C|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1671	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGAGACAGCCCACAAAACCT	0.323										HNSCC(13;0.011)			27	78					4.7796e-09	1.35761e-08	1	0	A	216258196	C	A	216258196	3	1	298	1	0	0	0	0	1	0	0	0	17132	623	22	4	10789	4	USH2A	1	216258196	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	2086925	216258196	32992425	26	53348											
DISP1	84976	broad.mit.edu	37	chr1	223116610	223116610	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctctccatccttctgcCtgcatcatccgtggcctgac	5	11	7	18	1	3	1	1	1	2	0	6	1	5	1	6	1	3	1	6	1	0	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:223116610C>T	ENST00000284476.6	+	2	609	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Silent_p.L149L	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	149					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATCCTTCTGCCTGCATCATCC	0.473													24	85					0	0	0	0	T	223116610	C	T	223116610	2	4	298	1	0	0	0	0	0	0	0	1	4576	680	24	4		4	DISP1	1	223116610	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	6858414	223116610	26134011	27	53349											
TRIM67	440730	broad.mit.edu	37	chr1	231333150	231333150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggccttaaatggagtttcaGataaggcaaaggaagcaaag	17	7	12	5	0	1	1	1	0	0	1	1	3	1	3	1	4	1	3	1	4	6	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:231333150G>C	ENST00000444294.3	+	2	1936	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	TRIM67_ENST00000449018.3_Missense_Mutation_p.D298H|TRIM67_ENST00000366653.5_Missense_Mutation_p.D360H|TRIM67_ENST00000366652.2_Missense_Mutation_p.D360H	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	360						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGGAGTTTCAGATAAGGCAAA	0.408													25	60					0	0	0	0	C	231333150	G	C	231333150	3	2	298	1	0	0	0	0	1	0	0	0	16635	942	33	2	1084	2	TRIM67	1	231333150	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	8216540	231333150	17917471	28	53350											
FMN2	56776	broad.mit.edu	37	chr1	240371752	240371752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccacctcctcccttgccaGgtatggggattccacctgct	5	10	8	18	0	0	0	0	0	0	0	3	1	3	1	8	3	2	2	8	3	1	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:240371752G>T	ENST00000319653.9	+	5	3870	c.3640G>T	c.(3640-3642)Ggt>Tgt	p.G1214C		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1214	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCTTGCCAGGTATGGGGAT	0.647													6	25					8.12818e-05	0.000203459	1	0	T	240371752	G	T	240371752	3	4	298	1	0	0	0	0	1	0	0	0	5995	1000	35	4	3658	4	FMN2	1	240371752	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	9038602	240371752	8878869	29	53351											
KIF26B	55083	broad.mit.edu	37	chr1	245848773	245848773	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatgcgcaggcccacccagCtgagacccttccacaccagg	9	4	10	18	1	0	1	0	1	0	1	1	2	1	1	5	2	2	3	5	2	0	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:245848773C>T	ENST00000366518.4	+	9	1449	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	KIF26B_ENST00000407071.2_Silent_p.L830L			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	830	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCCACCCAGCTGAGACCCTT	0.642													10	42					0	0	0	0	T	245848773	C	T	245848773	2	4	298	1	0	0	0	0	0	0	0	1	8346	796	28	4		4	KIF26B	1	245848773	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	5477021	245848773	3401848	30	53352											
OR2T11	127077	broad.mit.edu	37	chr1	248789867	248789867	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttcatacaaggacgtgTctgcacaggccagtttcaga	11	10	11	9	1	3	1	2	0	1	1	3	3	3	2	1	2	2	3	1	2	2	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:248789867T>A	ENST00000330803.2	-	1	624	c.563A>T	c.(562-564)gAc>gTc	p.D188V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAGGACGTGTCTGCACAGGC	0.478													32	30					0	0	0	0	A	248789867	T	A	248789867	3	1	298	1	0	0	0	0	1	0	0	0	11089	1667	58	5	391	5	OR2T11	1	248789867	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	2941094	248789867	460754	31	53353											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10912735	10912738	+	Splice_Site	DEL	AAGT	AAGT	-																															tggtggtccctcgatcaaccAagtaagtgagaccccagctt																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:10912735_10912738delAAGT	ENST00000381661.3	+	8	746_747	c.638_splice	c.e8+1	p.213_splice	ATP6V1C2_ENST00000272238.4_Splice_Site_p.213_splice	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	213					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCGATCAACCAAGTAAGTGAGACC	0.525													47	254	---	---	---	---					-	10912738	AAGT	-	10912735	8	5	298	1	0	1	0	1	0	0	1	0	1185	144	5	0	663	0	ATP6V1C2	2	10912735	Splice_Site	DEL	AAGT	TCGA-CV-7254-01A-11D-2012-08		10912735	232286638	32	53354											
GREB1	9687	broad.mit.edu	37	chr2	11696796	11696796	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctttgaagaggtcttgcAcaattccatcgaggcatccc	10	10	9	12	2	1	2	0	1	1	1	4	3	3	2	2	2	1	3	2	2	2	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:11696796A>G	ENST00000381486.2	+	2	356	c.56A>G	c.(55-57)cAc>cGc	p.H19R	GREB1_ENST00000389825.3_Intron|GREB1_ENST00000234142.5_Missense_Mutation_p.H19R|GREB1_ENST00000381483.2_Missense_Mutation_p.H19R|GREB1_ENST00000263834.5_Missense_Mutation_p.H19R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	19						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAGGTCTTGCACAATTCCATC	0.512													31	69					0	0	0	0	G	11696796	A	G	11696796	3	3	298	1	0	0	0	0	1	0	0	0	6810	159	6	5	58	5	GREB1	2	11696796	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	784061	11696796	231502577	33	53355											
GREB1	9687	broad.mit.edu	37	chr2	11696840	11696840	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaacaacctggtgcccAggcccatcttttcccagctg	7	9	9	16	0	1	0	0	0	1	0	3	0	3	0	5	3	4	1	5	3	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:11696840A>T	ENST00000381486.2	+	2	400	c.100A>T	c.(100-102)Agg>Tgg	p.R34W	GREB1_ENST00000389825.3_Intron|GREB1_ENST00000234142.5_Missense_Mutation_p.R34W|GREB1_ENST00000381483.2_Missense_Mutation_p.R34W|GREB1_ENST00000263834.5_Missense_Mutation_p.R34W	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	34						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTGGTGCCCAGGCCCATCTT	0.517													13	57					0	0	0	0	T	11696840	A	T	11696840	3	4	298	1	0	0	0	0	1	0	0	0	6810	179	7	5	102	5	GREB1	2	11696840	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	44	11696840	231502533	34	53356											
APOB	338	broad.mit.edu	37	chr2	21230159	21230159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgactgataaactcaCaaagcacagccaaaggattt	15	9	7	10	0	2	2	1	2	1	0	2	3	2	3	1	1	4	2	1	1	4	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:21230159C>A	ENST00000233242.1	-	26	9708	c.9581G>T	c.(9580-9582)tGt>tTt	p.C3194F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3194	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATAAACTCACAAAGCACAGC	0.328													20	41					4.96729e-08	1.37675e-07	1	0	A	21230159	C	A	21230159	3	1	298	1	0	0	0	0	1	0	0	0	787	478	17	4	4126	4	APOB	2	21230159	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	9533319	21230159	221969214	35	53357											
APOB	338	broad.mit.edu	37	chr2	21231819	21231819	+	Frame_Shift_Del	DEL	T	T	-																															tgtggaaaacctggatgggaTttttatattttttaagtctt																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:21231819delT	ENST00000233242.1	-	26	8048	c.7921delA	c.(7921-7923)tcfs	p.I2641fs		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2641					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.I2641L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGATGGGATTTTTATATTT	0.358													19	122	---	---	---	---					-	21231819	T	-	21231819	7	5	298	1	0	1	0	1	0	0	0	0	787	1493	52	0	5786	0	APOB	2	21231819	Frame_Shift_Del	DEL	T	TCGA-CV-7254-01A-11D-2012-08	1660	21231819	221967554	36	53358											
ADCY3	109	broad.mit.edu	37	chr2	25048966	25048966	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaacaccatcaccgtcAtagagtacttggaaggcacc	13	7	10	11	1	2	2	2	1	0	1	2	4	2	4	3	3	2	2	3	3	4	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:25048966A>T	ENST00000260600.5	-	15	3376	c.2525T>A	c.(2524-2526)aTg>aAg	p.M842K	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Missense_Mutation_p.M429K	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	842					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CATCACCGTCATAGAGTACTT	0.612													7	29					0	0	0	0	T	25048966	A	T	25048966	3	4	298	1	0	0	0	0	1	0	0	0	295	217	8	5	937	5	ADCY3	2	25048966	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	3817147	25048966	218150407	37	53359											
C2orf16	84226	broad.mit.edu	37	chr2	27800686	27800686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggctacaaatggaggaatCtttagaggtgcccctgaagc	12	9	12	8	0	1	2	0	1	1	1	1	4	1	4	2	4	3	1	2	4	5	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:27800686C>T	ENST00000408964.2	+	1	1298	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	416										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATGGAGGAATCTTTAGAGGTG	0.473													8	70					0	0	0	0	T	27800686	C	T	27800686	3	4	298	1	0	0	0	0	1	0	0	0	2177	913	32	2	1249	2	C2orf16	2	27800686	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	2751720	27800686	215398687	38	53360											
RTN4	57142	broad.mit.edu	37	chr2	55252626	55252626	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgatcaatgtagggaacTcatctataatttcaattgga	15	13	7	6	0	4	1	3	1	1	0	4	3	4	3	0	2	2	1	0	2	7	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:55252626T>A	ENST00000337526.6	-	3	2852	c.2609A>T	c.(2608-2610)gAg>gTg	p.E870V	RTN4_ENST00000405240.1_Missense_Mutation_p.E664V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.E664V|RTN4_ENST00000357376.3_Missense_Mutation_p.E664V|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.E638V|RTN4_ENST00000394611.2_Missense_Mutation_p.E664V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	870					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TGTAGGGAACTCATCTATAAT	0.328													8	51					0	0	0	0	A	55252626	T	A	55252626	3	1	298	1	0	0	0	0	1	0	0	0	13813	1551	54	5	1035	5	RTN4	2	55252626	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	27451940	55252626	187946747	39	53361											
USP34	9736	broad.mit.edu	37	chr2	61415830	61415830	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgccgccttttaatgggagTtgctccttcatcatctgtga	7	14	9	11	2	3	1	2	1	1	0	4	2	4	2	3	1	1	2	3	1	1	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:61415830T>A	ENST00000398571.2	-	80	10124	c.10048A>T	c.(10048-10050)Act>Tct	p.T3350S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3350					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTAATGGGAGTTGCTCCTTCA	0.463													20	61					0	0	0	0	A	61415830	T	A	61415830	3	1	298	1	0	0	0	0	1	0	0	0	17161	1725	60	5	596	5	USP34	2	61415830	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	6163204	61415830	181783543	40	53362											
ACTG2	72	broad.mit.edu	37	chr2	74128460	74128460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgaagaggagaccaccGcgctcgtgtgtgacaatggc	9	8	15	9	3	0	4	0	2	0	2	1	5	0	4	2	2	0	1	2	2	2	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:74128460G>A	ENST00000409624.1	+	3	665	c.22G>A	c.(22-24)Gcg>Acg	p.A8T	ACTG2_ENST00000345517.3_Missense_Mutation_p.A8T|ACTG2_ENST00000409731.3_Missense_Mutation_p.A8T|ACTG2_ENST00000409918.1_Missense_Mutation_p.A8T			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	8					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GGAGACCACCGCGCTCGTGTG	0.607													10	42					0	0	0	0	A	74128460	G	A	74128460	3	1	298	1	0	0	0	0	1	0	0	0	197	1087	38	1	24	1	ACTG2	2	74128460	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	12712630	74128460	169070913	41	53363											
REG3G	130120	broad.mit.edu	37	chr2	79254286	79254286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctggattgggctccatGaccccacacaggtgcgagta	10	8	11	12	1	1	1	0	1	1	0	2	3	2	2	3	3	1	2	3	3	1	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:79254286G>T	ENST00000272324.5	+	4	506	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	REG3G_ENST00000393897.2_Missense_Mutation_p.D108Y|REG3G_ENST00000409471.1_Intron	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	108	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGCTCCATGACCCCACACA	0.552													25	88					6.32553e-13	1.89766e-12	1	0	T	79254286	G	T	79254286	3	4	298	1	0	0	0	0	1	0	0	0	13295	1290	45	2	332	2	REG3G	2	79254286	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	5125826	79254286	163945087	42	53364											
REG1A	5967	broad.mit.edu	37	chr2	79349170	79349170	+	Missense_Mutation	SNP	G	G	T																															tctgtgctcacccaggccgaGggtgcctttgtggcctcact																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:79349170G>T	ENST00000233735.1	+	4	343	c.240G>T	c.(238-240)gaG>gaT	p.E80D		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	80	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCCAGGCCGAGGGTGCCTTTG	0.517													31	106					1.55811e-20	4.99219e-20	1	0	T	79349170	G	T	79349170	3	4	298	1	0	0	0	0	1	0	0	0	13292	991	35	4	250	4	REG1A	2	79349170	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	94884	79349170	163850203	43	53365	421	2									
REG1A	5967	broad.mit.edu	37	chr2	79349171	79349171	+	Missense_Mutation	SNP	G	G	T																															ctgtgctcacccaggccgagGgtgcctttgtggcctcactg																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:79349171G>T	ENST00000233735.1	+	4	344	c.241G>T	c.(241-243)Ggt>Tgt	p.G81C		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	81	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.G81C(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCAGGCCGAGGGTGCCTTTGT	0.517													32	103					3.80469e-20	1.20935e-19	1	0	T	79349171	G	T	79349171	3	4	298	1	0	0	0	0	1	0	0	0	13292	1232	43	4	251	4	REG1A	2	79349171	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	1	79349171	163850202	44	53366	421	2									
VWA3B	200403	broad.mit.edu	37	chr2	98797619	98797619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctctttccgccacgctGatggggttgtggatataaaa	9	12	11	9	2	1	1	0	1	1	0	2	2	2	2	2	3	1	3	2	3	3	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:98797619G>T	ENST00000477737.1	+	9	1459	c.1255G>T	c.(1255-1257)Gat>Tat	p.D419Y	VWA3B_ENST00000435344.1_Missense_Mutation_p.D419Y|VWA3B_ENST00000451075.2_Missense_Mutation_p.D269Y	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	419										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCGCCACGCTGATGGGGTTGT	0.552													31	103					5.8336e-16	1.81818e-15	1	0	T	98797619	G	T	98797619	3	4	298	1	0	0	0	0	1	0	0	0	17337	1290	45	2	1285	2	VWA3B	2	98797619	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	19448448	98797619	144401754	45	53367											
VWA3B	200403	broad.mit.edu	37	chr2	98916586	98916586	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgatacccaaaggattTgacttctatgtccctgccat	10	14	7	10	0	1	2	0	2	1	0	2	3	2	3	3	1	2	0	3	1	3	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:98916586T>C	ENST00000477737.1	+	25	3531	c.3327T>C	c.(3325-3327)ttT>ttC	p.F1109F	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1109										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAAAGGATTTGACTTCTATG	0.388													46	131					0	0	0	0	C	98916586	T	C	98916586	2	2	298	1	0	0	0	0	0	0	0	1	17337	1809	63	5		5	VWA3B	2	98916586	Silent	SNP	T	TCGA-CV-7254-01A-11D-2012-08	118967	98916586	144282787	46	53368											
AFF3	3899	broad.mit.edu	37	chr2	100210206	100210206	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacggaggagcgcagctcCttgcggtggctcgctctgtt	4	10	15	12	4	2	0	1	0	1	0	4	2	3	2	1	4	3	5	1	4	0	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:100210206C>T	ENST00000317233.4	-	14	2152	c.1917G>A	c.(1915-1917)aaG>aaA	p.K639K	AFF3_ENST00000409236.1_Silent_p.K639K|AFF3_ENST00000356421.2_Silent_p.K664K|AFF3_ENST00000409579.1_Silent_p.K664K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	639					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGCGCAGCTCCTTGCGGTGGC	0.662													14	74					0	0	0	0	T	100210206	C	T	100210206	2	4	298	1	0	0	0	0	0	0	0	1	358	680	24	4		4	AFF3	2	100210206	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	1293620	100210206	142989167	47	53369											
IL1RL1	9173	broad.mit.edu	37	chr2	102968311	102968311	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagcacgtgaggtaccAaatgcctgtgccaagcaaaa	14	6	11	10	1	0	1	0	1	0	0	0	2	0	2	3	2	5	3	3	2	6	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:102968311A>C	ENST00000233954.1	+	11	1872	c.1601A>C	c.(1600-1602)cAa>cCa	p.Q534P		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	534	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTGAGGTACCAAATGCCTGTG	0.488													15	91					0	0	0	0	C	102968311	A	C	102968311	3	2	298	1	0	0	0	0	1	0	0	0	7716	130	5	5	1656	5	IL1RL1	2	102968311	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	2758105	102968311	140231062	48	53370											
DPP10	57628	broad.mit.edu	37	chr2	116535404	116535404	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccagaggaaggcagcTgtacaggtaagcagtgtgca	11	8	13	9	0	1	1	0	0	1	1	2	2	1	2	1	3	4	6	1	3	3	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:116535404T>A	ENST00000410059.1	+	15	1835	c.1355T>A	c.(1354-1356)cTg>cAg	p.L452Q	DPP10_ENST00000393147.2_Missense_Mutation_p.L456Q|DPP10_ENST00000310323.8_Missense_Mutation_p.L445Q|DPP10_ENST00000409163.1_Missense_Mutation_p.L402Q	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	452					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGAAGGCAGCTGTACAGGTAA	0.403													7	62					0	0	0	0	A	116535404	T	A	116535404	3	1	298	1	0	0	0	0	1	0	0	0	4763	1580	55	5	1584	5	DPP10	2	116535404	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	13567093	116535404	126663969	49	53371											
EPB41L5	57669	broad.mit.edu	37	chr2	120844792	120844792	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaataaattaaccttGgtggttgtagaagatgatga	17	11	11	2	0	0	6	0	2	0	4	0	6	0	6	1	2	1	2	1	2	8	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:120844792G>A	ENST00000263713.5	+	11	1063	c.849G>A	c.(847-849)ttG>ttA	p.L283L	EPB41L5_ENST00000452780.1_Silent_p.L283L|EPB41L5_ENST00000443124.1_Silent_p.L283L|EPB41L5_ENST00000443902.2_Silent_p.L283L|EPB41L5_ENST00000331393.4_Silent_p.L283L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	283	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AATTAACCTTGGTGGTTGTAG	0.289													13	43					0	0	0	0	A	120844792	G	A	120844792	2	1	298	1	0	0	0	0	0	0	0	1	5195	1339	47	4		4	EPB41L5	2	120844792	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	4309388	120844792	122354581	50	53372											
GLI2	2736	broad.mit.edu	37	chr2	121747427	121747427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attcagccctggctggagtgCcaccacctcacccagtccag	8	7	9	17	0	2	0	2	0	0	0	3	1	3	1	6	2	2	1	6	2	0	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:121747427C>G	ENST00000452319.1	+	14	3997	c.3937C>G	c.(3937-3939)Cca>Gca	p.P1313A	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.P1313A			P10070	GLI2_HUMAN	GLI family zinc finger 2	1313					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)				GGCTGGAGTGCCACCACCTCA	0.647													3	32					0	0	0	0	G	121747427	C	G	121747427	3	3	298	1	0	0	0	0	1	0	0	0	6489	739	26	4	3987	4	GLI2	2	121747427	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	902635	121747427	121451946	51	53373											
SAP130	79595	broad.mit.edu	37	chr2	128775403	128775403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttaccacaacaggctcttGcttctcctcccgggactgga	7	10	8	16	1	2	0	0	0	2	0	4	2	3	2	4	3	3	2	4	3	2	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:128775403G>C	ENST00000357702.5	-	3	408	c.277C>G	c.(277-279)Caa>Gaa	p.Q93E	SAP130_ENST00000259235.3_Missense_Mutation_p.Q93E|SAP130_ENST00000259234.6_Missense_Mutation_p.Q67E	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	93					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACAGGCTCTTGCTTCTCCTCC	0.547													21	118					0	0	0	0	C	128775403	G	C	128775403	3	2	298	1	0	0	0	0	1	0	0	0	13916	1328	46	4	3050	4	SAP130	2	128775403	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	7027976	128775403	114423970	52	53374											
GTDC1	79712	broad.mit.edu	37	chr2	144903281	144903281	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagccagttcggtcaggtTaagcactgaacttgcaaaga	12	8	12	9	1	1	2	1	1	0	1	2	2	1	2	1	3	4	5	1	3	3	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:144903281T>A	ENST00000409214.1	-	5	483	c.205A>T	c.(205-207)Aac>Tac	p.N69Y	GTDC1_ENST00000409298.1_Missense_Mutation_p.N69Y|GTDC1_ENST00000344850.4_Missense_Mutation_p.N69Y|GTDC1_ENST00000392867.3_Missense_Mutation_p.N69Y|GTDC1_ENST00000392869.1_Missense_Mutation_p.N69Y|GTDC1_ENST00000241391.5_Missense_Mutation_p.N69Y|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000542155.1_Missense_Mutation_p.N69Y	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	69					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TCGGTCAGGTTAAGCACTGAA	0.438													22	64					0	0	0	0	A	144903281	T	A	144903281	3	1	298	1	0	0	0	0	1	0	0	0	6901	1754	61	5	1203	5	GTDC1	2	144903281	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	16127878	144903281	98296092	53	53375											
TTN	7273	broad.mit.edu	37	chr2	179598434	179598434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaactaatctgaacatcagGgattatcaagactgcaacac	18	8	6	9	0	3	2	2	1	1	1	3	3	3	3	0	1	4	1	0	1	7	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:179598434G>A	ENST00000589042.1	-	53	15906	c.15682C>T	c.(15682-15684)Cct>Tct	p.P5228S	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P4911S|TTN_ENST00000342992.6_Missense_Mutation_p.P3984S|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4911	Ig-like 33.						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)			TGAACATCAGGGATTATCAAG	0.413													39	145					0	0	0	0	A	179598434	G	A	179598434	3	1	298	1	0	0	0	0	1	0	0	0	16831	1232	43	4	89087	4	TTN	2	179598434	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	34695153	179598434	63600939	54	53376											
PGAP1	80055	broad.mit.edu	37	chr2	197711732	197711732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattcattctttaccttttCaaagctagccacaatgaaga	13	14	4	10	0	4	2	3	1	1	1	4	2	4	2	2	0	3	1	2	0	5	7			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:197711732C>G	ENST00000354764.3	-	22	2259	c.2145G>C	c.(2143-2145)ttG>ttC	p.L715F		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	715					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TTTACCTTTTCAAAGCTAGCC	0.333													10	22					0	0	0	0	G	197711732	C	G	197711732	3	3	298	1	0	0	0	0	1	0	0	0	11849	825	29	2	647	2	PGAP1	2	197711732	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	18113298	197711732	45487641	55	53377											
ANKRD44	91526	broad.mit.edu	37	chr2	197866545	197866545	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttttgctccaaaagtacCtctatacagttttcattacc	11	16	3	11	0	2	0	1	0	1	0	3	0	3	0	3	0	4	3	3	0	6	8			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:197866545C>T	ENST00000328737.2	-	22	2368	c.2292G>A	c.(2290-2292)gaG>gaA	p.E764E	ANKRD44_ENST00000337207.5_Silent_p.E764E|ANKRD44_ENST00000450567.1_Silent_p.E764E|ANKRD44_ENST00000282272.8_Silent_p.E781E			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	789							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCAAAAGTACCTCTATACAGT	0.333													14	50					0	0	0	0	T	197866545	C	T	197866545	2	4	298	1	0	0	0	0	0	0	0	1	671	680	24	4		4	ANKRD44	2	197866545	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	154813	197866545	45332828	56	53378											
MARS2	92935	broad.mit.edu	37	chr2	198570156	198570156	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaacgtccgtcctccgcctGctaggacgcacgggggctag	6	6	14	15	6	0	0	0	0	0	0	3	2	3	1	4	3	2	3	4	3	3	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:198570156G>T	ENST00000282276.6	+	1	70	c.27G>T	c.(25-27)ctG>ctT	p.L9L	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	9					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TCCTCCGCCTGCTAGGACGCA	0.662													8	63					2.74318e-10	8.0193e-10	1	0	T	198570156	G	T	198570156	2	4	298	1	0	0	0	0	0	0	0	1	9386	1306	46	4		4	MARS2	2	198570156	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	703611	198570156	44629217	57	53379											
PARD3B	117583	broad.mit.edu	37	chr2	205989155	205989155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagggagcagcaataaaaGatggccgcctacaatcaggg	16	4	12	9	1	1	1	1	0	0	1	1	2	1	2	2	3	3	2	2	3	6	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:205989155G>A	ENST00000406610.2	+	9	1477	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	PARD3B_ENST00000358768.2_Missense_Mutation_p.D424N|PARD3B_ENST00000351153.1_Missense_Mutation_p.D424N|PARD3B_ENST00000349953.3_Missense_Mutation_p.D424N|PARD3B_ENST00000462231.1_Missense_Mutation_p.D424N	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	424	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGCAATAAAAGATGGCCGCCT	0.373													22	59					0	0	0	0	A	205989155	G	A	205989155	3	1	298	1	0	0	0	0	1	0	0	0	11515	942	33	2	1304	2	PARD3B	2	205989155	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	7418999	205989155	37210218	58	53380											
ATIC	471	broad.mit.edu	37	chr2	216190845	216190845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccttggagactagacGccagttagccttgaaggtgg	9	9	12	11	1	0	3	0	1	0	2	1	4	1	3	4	3	1	1	4	3	3	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:216190845G>T	ENST00000435675.1	+	5	903	c.512G>T	c.(511-513)cGc>cTc	p.R171L	ATIC_ENST00000236959.9_Missense_Mutation_p.R172L|ATIC_ENST00000540518.1_Missense_Mutation_p.R113L			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	172					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GAGACTAGACGCCAGTTAGCC	0.502			T	ALK	ALCL								12	41					9.31168e-06	2.40602e-05	1	0	T	216190845	G	T	216190845	3	4	298	1	0	0	0	0	1	0	0	0	1109	1087	38	3	537	3	ATIC	2	216190845	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	10201690	216190845	27008528	59	53381											
STK36	27148	broad.mit.edu	37	chr2	219543985	219543985	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgctggtcatgtcaccaGtgagtcatcagggttcccag	8	12	11	10	0	4	1	4	1	0	0	5	1	5	1	2	2	1	2	2	2	1	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:219543985G>T	ENST00000295709.3	+	7	1057		c.e7+1		STK36_ENST00000392105.3_Splice_Site|STK36_ENST00000392106.2_Splice_Site|STK36_ENST00000440309.1_Splice_Site	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36						cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CATGTCACCAGTGAGTCATCA	0.507													16	84					2.23348e-06	5.84647e-06	1	0	T	219543985	G	T	219543985	5	4	298	1	0	0	0	0	0	0	1	0	15392	1043	36	4	801	4	STK36	2	219543985	Splice_Site	SNP	G	TCGA-CV-7254-01A-11D-2012-08	3353140	219543985	23655388	60	53382											
NUP210	23225	broad.mit.edu	37	chr3	13438951	13438951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctggatgtcatggatgagGtccacaatggcatcacagcg	11	9	12	9	1	3	1	2	1	1	0	4	3	4	3	1	4	1	1	1	4	1	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:13438951G>T	ENST00000254508.5	-	3	424	c.342C>A	c.(340-342)gaC>gaA	p.D114E		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	114					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CATGGATGAGGTCCACAATGG	0.622													13	35					2.62699e-14	8.00083e-14	1	0	T	13438951	G	T	13438951	3	4	298	1	0	0	0	0	1	0	0	0	10831	1252	44	4	5473	4	NUP210	3	13438951	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08		13438951	184583479	61	53383											
PLCL2	23228	broad.mit.edu	37	chr3	17052474	17052474	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggagacaagctctatacaAcatcacccaatgttgaggaa	16	8	8	9	0	2	2	1	1	1	1	2	4	2	3	1	2	3	2	1	2	7	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:17052474A>T	ENST00000418129.2	+	2	1723	c.1258A>T	c.(1258-1260)Aca>Tca	p.T420S	PLCL2_ENST00000396755.2_Missense_Mutation_p.T420S|PLCL2_ENST00000432376.1_Missense_Mutation_p.T420S|PLCL2_ENST00000460467.1_3'UTR	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	546					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCTCTATACAACATCACCCAA	0.388													8	26					0	0	0	0	T	17052474	A	T	17052474	3	4	298	1	0	0	0	0	1	0	0	0	12112	43	2	5	1636	5	PLCL2	3	17052474	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	3613523	17052474	180969956	62	53384											
NEK10	152110	broad.mit.edu	37	chr3	27203967	27203967	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaccatgatctttgagatTtcgaagaatcacagcaggaa	15	10	8	8	1	2	3	1	2	1	2	3	6	2	4	1	1	2	1	1	1	4	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:27203967T>A	ENST00000429845.2	-	32	3357	c.2995A>T	c.(2995-2997)Aat>Tat	p.N999Y	NEK10_ENST00000498182.1_Intron|NEK10_ENST00000383770.3_Intron|NEK10_ENST00000383771.4_Missense_Mutation_p.N311Y|NEK10_ENST00000357467.2_Missense_Mutation_p.N396Y|NEK10_ENST00000295720.6_Missense_Mutation_p.N311Y			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	999							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCTTTGAGATTTCGAAGAATC	0.463													28	54					0	0	0	0	A	27203967	T	A	27203967	3	1	298	1	0	0	0	0	1	0	0	0	10392	1856	64	5		5	NEK10	3	27203967	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	10151493	27203967	170818463	63	53385											
EOMES	8320	broad.mit.edu	37	chr3	27760106	27760106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgtctctgaagccttttgCaaaggggttatgatcaatct	9	15	10	7	0	3	2	1	2	2	0	4	2	3	2	1	2	2	3	1	2	4	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:27760106C>T	ENST00000295743.4	-	5	1554	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	EOMES_ENST00000449599.1_Missense_Mutation_p.A451T|EOMES_ENST00000537516.1_Missense_Mutation_p.A156T			O95936	EOMES_HUMAN	eomesodermin	451					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AAGCCTTTTGCAAAGGGGTTA	0.403													10	37					0	0	0	0	T	27760106	C	T	27760106	3	4	298	1	0	0	0	0	1	0	0	0	5185	710	25	4	717	4	EOMES	3	27760106	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	556139	27760106	170262324	64	53386											
TRANK1	9881	broad.mit.edu	37	chr3	36898414	36898414	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggatgatttccgtgtagatCcgccctgatttctccattgc	6	14	9	12	3	1	3	0	2	1	1	4	4	3	4	4	1	1	1	4	1	1	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:36898414C>A	ENST00000429976.2	-	12	2914	c.2667G>T	c.(2665-2667)cgG>cgT	p.R889R	TRANK1_ENST00000428977.2_Silent_p.R339R|TRANK1_ENST00000301807.6_Silent_p.R339R			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	889					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGTGTAGATCCGCCCTGATT	0.522													11	7					0.000673444	0.00161506	1	0	A	36898414	C	A	36898414	2	1	298	1	0	0	0	0	0	0	0	1	16549	842	30	2		2	TRANK1	3	36898414	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	9138308	36898414	161124016	65	53387											
SLC22A14	9389	broad.mit.edu	37	chr3	38347844	38347844	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctggcagtgggcccccaCctgtccaaagctgagcagct	8	7	11	15	0	0	1	0	1	0	0	2	1	2	1	5	2	3	4	5	2	1	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:38347844C>G	ENST00000273173.4	+	1	418	c.327C>G	c.(325-327)caC>caG	p.H109Q	SLC22A14_ENST00000448498.1_Missense_Mutation_p.H109Q	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	109						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TGGGCCCCCACCTGTCCAAAG	0.532													35	53					0	0	0	0	G	38347844	C	G	38347844	3	3	298	1	0	0	0	0	1	0	0	0	14533	506	18	4	329	4	SLC22A14	3	38347844	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	1449430	38347844	159674586	66	53388											
MYRIP	25924	broad.mit.edu	37	chr3	40231705	40231705	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgggcaccaggccagactGtcctggttgcagaggaaggc	8	7	16	10	0	0	2	0	0	0	2	1	3	1	3	3	5	1	4	3	5	1	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:40231705G>A	ENST00000302541.6	+	10	1758	c.1416G>A	c.(1414-1416)ctG>ctA	p.L472L	MYRIP_ENST00000396217.3_Silent_p.L383L|MYRIP_ENST00000539167.1_Silent_p.L285L|MYRIP_ENST00000444716.1_Silent_p.L472L|MYRIP_ENST00000425621.1_Silent_p.L472L|MYRIP_ENST00000459828.1_3'UTR	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	472	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGGCCAGACTGTCCTGGTTGC	0.627													37	41					0	0	0	0	A	40231705	G	A	40231705	2	1	298	1	0	0	0	0	0	0	0	1	10170	1364	48	4		4	MYRIP	3	40231705	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	1883861	40231705	157790725	67	53389											
ABHD5	51099	broad.mit.edu	37	chr3	43743731	43743731	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgcacatacaaaaaagAacctgttcgtatatctaatg	15	11	6	9	1	1	1	0	0	1	1	2	1	1	1	2	0	3	3	2	0	8	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:43743731A>C	ENST00000458276.2	+	3	281	c.158A>C	c.(157-159)gAa>gCa	p.E53A		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	53					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TACAAAAAAGAACCTGTTCGT	0.338													20	24					0	0	0	0	C	43743731	A	C	43743731	3	2	298	1	0	0	0	0	1	0	0	0	85	246	9	5	168	5	ABHD5	3	43743731	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	3512026	43743731	154278699	68	53390											
ZNF502	91392	broad.mit.edu	37	chr3	44762721	44762721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtaatatacaaaccaatGatatttcagaccaaagtaaa	21	9	4	7	0	1	2	1	1	0	1	1	2	1	2	2	0	2	2	2	0	10	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:44762721G>T	ENST00000296091.4	+	4	668	c.412G>T	c.(412-414)Gat>Tat	p.D138Y	ZNF502_ENST00000436624.2_Missense_Mutation_p.D138Y|ZNF502_ENST00000449836.1_Missense_Mutation_p.D138Y	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ACAAACCAATGATATTTCAGA	0.388													7	41					1.12685e-05	2.89297e-05	1	0	T	44762721	G	T	44762721	3	4	298	1	0	0	0	0	1	0	0	0	18045	1290	45	2	418	2	ZNF502	3	44762721	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	1018990	44762721	153259709	69	53391											
SEMA3F	6405	broad.mit.edu	37	chr3	50225414	50225414	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagccagaagtgggcctcAtccaccagtactgccagggt	9	6	11	15	0	1	1	1	0	0	1	2	1	2	1	6	2	3	1	6	2	2	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:50225414A>T	ENST00000002829.3	+	19	2708	c.2224A>T	c.(2224-2226)Atc>Ttc	p.I742F	SEMA3F_ENST00000413852.1_Missense_Mutation_p.I643F|SEMA3F_ENST00000434342.1_Missense_Mutation_p.I711F	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	742					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AGTGGGCCTCATCCACCAGTA	0.687													4	8					0	0	0	0	T	50225414	A	T	50225414	3	4	298	1	0	0	0	0	1	0	0	0	14116	217	8	5	2294	5	SEMA3F	3	50225414	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	5462693	50225414	147797016	70	53392											
MYH15	22989	broad.mit.edu	37	chr3	108147552	108147552	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtctcggtgcagcttctgGaatttggtttcctgtttctt	4	19	10	8	1	3	0	0	0	3	0	5	1	4	1	1	3	2	4	1	3	1	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:108147552G>A	ENST00000273353.3	-	28	3605	c.3549C>T	c.(3547-3549)ttC>ttT	p.F1183F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1183						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCAGCTTCTGGAATTTGGTTT	0.507													15	72					0	0	0	0	A	108147552	G	A	108147552	2	1	298	1	0	0	0	0	0	0	0	1	10104	1165	41	2		2	MYH15	3	108147552	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	57922138	108147552	89874878	71	53393											
BOC	91653	broad.mit.edu	37	chr3	112999437	112999437	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtaacaacaacaccccaatCcatggcttttatatctatta	15	12	3	11	0	1	0	0	0	1	0	2	0	2	0	3	1	3	2	3	1	8	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:112999437C>A	ENST00000495514.1	+	14	2939	c.2235C>A	c.(2233-2235)atC>atA	p.I745I	BOC_ENST00000273395.4_Silent_p.I746I|BOC_ENST00000355385.3_Silent_p.I745I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	745	Fibronectin type-III 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ACACCCCAATCCATGGCTTTT	0.413													10	41					0.000442599	0.00107431	1	0	A	112999437	C	A	112999437	2	1	298	1	0	0	0	0	0	0	0	1	1486	845	30	2		2	BOC	3	112999437	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	4851885	112999437	85022993	72	53394											
C3orf30	152405	broad.mit.edu	37	chr3	118870107	118870107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagtctatgaaaagccagagGaccccctgaattttatgctg	12	11	9	9	0	1	3	0	2	1	1	1	4	1	4	3	1	2	1	3	1	6	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:118870107G>A	ENST00000295622.1	+	3	1619	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	527										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAAGCCAGAGGACCCCCTGAA	0.363													84	156					0	0	0	0	A	118870107	G	A	118870107	3	1	298	1	0	0	0	0	1	0	0	0	2240	1174	41	2	1589	2	C3orf30	3	118870107	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	5870670	118870107	79152323	73	53395											
PLXNA1	5361	broad.mit.edu	37	chr3	126747090	126747090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgaaggggctggactgtGacacggtcacccaggccaag	9	5	16	11	2	1	2	1	2	0	0	1	3	1	3	2	6	0	1	2	6	2	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:126747090G>T	ENST00000393409.2	+	24	4576	c.4576G>T	c.(4576-4578)Gac>Tac	p.D1526Y	PLXNA1_ENST00000251772.4_Missense_Mutation_p.D1503Y	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1526					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCTGGACTGTGACACGGTCAC	0.657													12	31					1.08611e-07	2.97936e-07	1	0	T	126747090	G	T	126747090	3	4	298	1	0	0	0	0	1	0	0	0	12191	1290	45	2	4670	2	PLXNA1	3	126747090	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	7876983	126747090	71275340	74	53396											
A4GNT	51146	broad.mit.edu	37	chr3	137843691	137843691	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgcatccgagctgatgtgGagccagtttctctctgcgct	6	12	12	11	2	2	1	0	1	2	0	4	4	3	2	2	1	4	4	2	1	0	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:137843691G>T	ENST00000236709.3	-	3	639	c.438C>A	c.(436-438)ctC>ctA	p.L146L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	146					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AGCTGATGTGGAGCCAGTTTC	0.587													6	68					0.00198382	0.00471525	1	0	T	137843691	G	T	137843691	2	4	298	1	0	0	0	0	0	0	0	1	7	1161	41	2		2	A4GNT	3	137843691	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	11096601	137843691	60178739	75	53397											
GPR149	344758	broad.mit.edu	37	chr3	154138924	154138924	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagtcttctttctggcccTtcagaaaaggtagtttcttc	8	15	8	10	0	5	1	1	0	4	1	6	2	5	1	1	2	0	2	1	2	3	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:154138924T>A	ENST00000389740.2	-	3	1626	c.1527A>T	c.(1525-1527)gaA>gaT	p.E509D		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	509						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTCTGGCCCTTCAGAAAAGG	0.413													105	98					0	0	0	0	A	154138924	T	A	154138924	3	1	298	1	0	0	0	0	1	0	0	0	6703	1606	56	5	676	5	GPR149	3	154138924	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	16295233	154138924	43883506	76	53398											
KDR	3791	broad.mit.edu	37	chr4	55964304	55964304	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagcaattgaaaatgcacCtagcttcagccggtctctgg	12	10	9	10	1	2	1	1	1	1	0	3	1	2	1	2	2	4	3	2	2	6	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:55964304C>A	ENST00000263923.4	-	17	2804	c.2509_splice	c.e17+1	p.G837_splice		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	837	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GAAAATGCACCTAGCTTCAGC	0.423			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			7	66					5.4927e-09	1.54374e-08	1	0	A	55964304	C	A	55964304	5	1	298	1	0	0	0	0	0	0	1	0	8191	695	24	4	1617	4	KDR	4	55964304	Splice_Site	SNP	C	TCGA-CV-7254-01A-11D-2012-08		55964304	135189972	77	53399											
KDR	3791	broad.mit.edu	37	chr4	55970955	55970955	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctattagagaacatggtGgcattcaatttccaaagagt	13	12	10	6	0	1	2	1	0	0	2	2	3	2	2	1	2	2	2	1	2	5	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:55970955G>T	ENST00000263923.4	-	13	2137	c.1842C>A	c.(1840-1842)gcC>gcA	p.A614A		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	614	Ig-like C2-type 6.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGAACATGGTGGCATTCAATT	0.463			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			17	91					4.7546e-09	1.35532e-08	1	0	T	55970955	G	T	55970955	2	4	298	1	0	0	0	0	0	0	0	1	8191	1335	47	4		4	KDR	4	55970955	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	6651	55970955	135183321	78	53400											
REST	5978	broad.mit.edu	37	chr4	57797980	57797980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagaacgtgaagcagtgTccaaaactgcactggcatca	15	7	10	9	1	1	3	1	1	0	2	2	3	2	3	1	1	4	3	1	1	6	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:57797980T>C	ENST00000309042.7	+	4	3270	c.2956T>C	c.(2956-2958)Tcc>Ccc	p.S986P		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	986					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGAAGCAGTGTCCAAAACTGC	0.453													3	66					0	0	0	0	C	57797980	T	C	57797980	3	2	298	1	0	0	0	0	1	0	0	0	13316	1667	58	5	2966	5	REST	4	57797980	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	1827025	57797980	133356296	79	53401											
PROL1	58503	broad.mit.edu	37	chr4	71275379	71275379	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacatttcccactaagacctTactatgtaggacctattagg	12	13	6	10	0	0	1	0	0	0	1	1	2	1	2	3	2	2	1	3	2	7	8			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:71275379T>C	ENST00000399575.2	+	3	508	c.334T>C	c.(334-336)Tac>Cac	p.Y112H	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	112	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACTAAGACCTTACTATGTAGG	0.393													48	135					0	0	0	0	C	71275379	T	C	71275379	3	2	298	1	0	0	0	0	1	0	0	0	12634	1754	61	5	340	5	PROL1	4	71275379	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	13477399	71275379	119878897	80	53402											
FRAS1	80144	broad.mit.edu	37	chr4	79207678	79207678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacggcttctaccaagatCgccattcctgtgcaggtaat	9	10	11	11	2	1	1	0	0	1	1	3	2	2	2	3	3	2	3	3	3	3	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:79207678C>A	ENST00000264895.6	+	14	1959	c.1519C>A	c.(1519-1521)Cgc>Agc	p.R507S	FRAS1_ENST00000264899.6_Missense_Mutation_p.R507S|FRAS1_ENST00000325942.6_Missense_Mutation_p.R507S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	507					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTACCAAGATCGCCATTCCTG	0.622													10	57					0.00010058	0.000248656	1	0	A	79207678	C	A	79207678	3	1	298	1	0	0	0	0	1	0	0	0	6089	884	31	3	1573	3	FRAS1	4	79207678	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	7932299	79207678	111946598	81	53403											
PRKG2	5593	broad.mit.edu	37	chr4	82061705	82061705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcacaatgaatggagagCacagctcctctaggatcctc	12	9	8	12	0	2	2	1	1	1	1	5	4	4	3	2	2	2	2	2	2	3	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:82061705C>G	ENST00000395578.1	-	12	1642	c.1526G>C	c.(1525-1527)tGc>tCc	p.C509S	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.C480S|PRKG2_ENST00000545647.1_Missense_Mutation_p.C89S|PRKG2_ENST00000264399.1_Missense_Mutation_p.C509S			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	509	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GAATGGAGAGCACAGCTCCTC	0.373													11	77					0	0	0	0	G	82061705	C	G	82061705	3	3	298	1	0	0	0	0	1	0	0	0	12603	710	25	4	794	4	PRKG2	4	82061705	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	2854027	82061705	109092571	82	53404											
HERC5	51191	broad.mit.edu	37	chr4	89407343	89407343	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccgtctcaatttttttgtAgaagtatgcagaaggtactt	11	15	8	7	1	1	2	1	0	1	2	2	2	1	2	1	1	2	4	1	1	6	7			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:89407343A>G	ENST00000264350.3	+	14	1968	c.1815A>G	c.(1813-1815)gtA>gtG	p.V605V	HERC5_ENST00000508159.1_Silent_p.V243V	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	605					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATTTTTTTGTAGAAGTATGCA	0.358													18	43					0	0	0	0	G	89407343	A	G	89407343	2	3	298	1	0	0	0	0	0	0	0	1	7111	407	15	5		5	HERC5	4	89407343	Silent	SNP	A	TCGA-CV-7254-01A-11D-2012-08	7345638	89407343	101746933	83	53405											
PITX2	5308	broad.mit.edu	37	chr4	111539443	111539443	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacggaggagtcggcggcgcGtaaggacaggcaggcgtcgg	8	4	20	9	7	0	0	0	0	0	0	2	3	0	3	0	8	1	2	0	8	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:111539443G>C	ENST00000354925.2	-	7	2497	c.792C>G	c.(790-792)taC>taG	p.Y264*	PITX2_ENST00000306732.3_Nonsense_Mutation_p.Y271*|PITX2_ENST00000394598.2_Nonsense_Mutation_p.Y264*|PITX2_ENST00000355080.5_Nonsense_Mutation_p.Y218*|PITX2_ENST00000394595.3_3'UTR	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	264					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TCGGCGGCGCGTAAGGACAGG	0.592													8	55					0	0	0	0	C	111539443	G	C	111539443	4	2	298	1	0	0	0	0	0	1	0	0	12027	1140	40	3	165	3	PITX2	4	111539443	Nonsense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	22132100	111539443	79614833	84	53406											
NDST3	9348	broad.mit.edu	37	chr4	119148127	119148127	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaattcttggtaataggaccCcagaaaactggtgagaactt	15	10	9	7	0	1	2	0	1	1	2	1	4	1	3	2	3	2	1	2	3	6	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:119148127C>A	ENST00000296499.5	+	8	2212	c.1809C>A	c.(1807-1809)ccC>ccA	p.P603P	NDST3_ENST00000433996.2_Silent_p.P522P	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	603	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TAATAGGACCCCAGAAAACTG	0.368													12	70					0.000978159	0.00233882	1	0	A	119148127	C	A	119148127	2	1	298	1	0	0	0	0	0	0	0	1	10327	610	22	4		4	NDST3	4	119148127	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	7608684	119148127	72006149	85	53407											
PDE5A	8654	broad.mit.edu	37	chr4	120446754	120446754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgaggtcagtaaacatccGaattgtacacagtgctgttt	11	13	10	7	1	1	1	1	1	0	0	2	2	2	1	1	1	3	5	1	1	4	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:120446754G>A	ENST00000354960.3	-	12	2048	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.R525W|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000264805.5_Missense_Mutation_p.R535W	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	577					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.R577W(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTAAACATCCGAATTGTACAC	0.448													25	42					0	0	0	0	A	120446754	G	A	120446754	3	1	298	1	0	0	0	0	1	0	0	0	11715	1057	37	1	938	1	PDE5A	4	120446754	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	1298627	120446754	70707522	86	53408											
NPY2R	4887	broad.mit.edu	37	chr4	156136121	156136121	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcggccttccgctgtgagCagcggttggatgccattcac	5	11	12	13	3	2	1	1	1	1	0	4	2	3	2	3	3	3	3	3	3	0	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:156136121C>G	ENST00000329476.3	+	2	1519	c.1030C>G	c.(1030-1032)Cag>Gag	p.Q344E	NPY2R_ENST00000506608.1_Missense_Mutation_p.Q344E	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	344					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCGCTGTGAGCAGCGGTTGGA	0.512													14	71					0	0	0	0	G	156136121	C	G	156136121	3	3	298	1	0	0	0	0	1	0	0	0	10680	711	25	4	1032	4	NPY2R	4	156136121	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	35689367	156136121	35018155	87	53409											
GLRB	2743	broad.mit.edu	37	chr4	158091726	158091726	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acccattgaagttaacaacgGacttgggaaatctcaggcta	14	9	9	9	1	1	1	1	1	1	0	2	3	1	3	1	3	2	2	1	3	5	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:158091726G>C	ENST00000264428.4	+	10	1610	c.1340G>C	c.(1339-1341)gGa>gCa	p.G447A	GLRB_ENST00000512619.1_3'UTR|GLRB_ENST00000541722.1_3'UTR|GLRB_ENST00000509282.1_Missense_Mutation_p.G447A	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	447					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GTTAACAACGGACTTGGGAAA	0.413													3	47					0	0	0	0	C	158091726	G	C	158091726	3	2	298	1	0	0	0	0	1	0	0	0	6509	1174	41	2	1374	2	GLRB	4	158091726	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	1955605	158091726	33062550	88	53410											
FAT1	2195	broad.mit.edu	37	chr4	187522436	187522436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacatacctccaagatgctaTagtcagttcctcgagcatac	13	10	6	12	1	1	1	1	0	0	1	4	2	3	1	3	0	5	3	3	0	6	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:187522436T>C	ENST00000441802.2	-	21	11836	c.11627A>G	c.(11626-11628)tAt>tGt	p.Y3876C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3876	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAAGATGCTATAGTCAGTTCC	0.388										HNSCC(5;0.00058)			3	27					0	0	0	0	C	187522436	T	C	187522436	3	2	298	1	0	0	0	0	1	0	0	0	5734	1406	49	5	2167	5	FAT1	4	187522436	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	29430710	187522436	3631840	89	53411											
TRIML1	339976	broad.mit.edu	37	chr4	189068327	189068327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcagcacgtcagagagcCtgtgtgtaaggttggtgtct	8	11	15	7	1	3	1	2	0	1	1	3	2	3	1	1	3	2	3	1	3	1	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:189068327C>A	ENST00000332517.3	+	6	1348	c.1208C>A	c.(1207-1209)cCt>cAt	p.P403H	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	403	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTCAGAGAGCCTGTGTGTAAG	0.488													21	68					4.35082e-09	1.24911e-08	1	0	A	189068327	C	A	189068327	3	1	298	1	0	0	0	0	1	0	0	0	16645	681	24	4	1230	4	TRIML1	4	189068327	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	1545891	189068327	2085949	90	53412											
AHRR	57491	broad.mit.edu	37	chr5	422969	422969	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcagcccccgcccttggaGacaggtgggtgtctggggtc	4	7	18	12	1	1	1	0	0	1	1	2	2	1	1	3	6	1	1	3	6	0	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:422969G>A	ENST00000316418.5	+	6	623	c.579G>A	c.(577-579)gaG>gaA	p.E193E	AHRR_ENST00000505113.1_Silent_p.E193E|AHRR_ENST00000506456.1_Silent_p.E49E|AHRR_ENST00000512529.1_Silent_p.E39E	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CGCCCTTGGAGACAGGTGGGT	0.602													8	32					0	0	0	0	A	422969	G	A	422969	2	1	298	1	0	0	0	0	0	0	0	1	417	933	33	2		2	AHRR	5	422969	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08		422969	180492291	91	53413											
IRX2	153572	broad.mit.edu	37	chr5	2749089	2749089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcacagggggtccccggCgcggcacggaagcttctccc	5	6	14	16	5	1	0	0	0	1	0	4	1	2	1	3	5	1	3	3	5	1	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:2749089C>T	ENST00000382611.6	-	3	981	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.A245T	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GGGTCCCCGGCGCGGCACGGA	0.701													7	36					0	0	0	0	T	2749089	C	T	2749089	3	4	298	1	0	0	0	0	1	0	0	0	7897	768	27	1	690	1	IRX2	5	2749089	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	2326120	2749089	178166171	92	53414											
CTNND2	1501	broad.mit.edu	37	chr5	11397213	11397213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgtgaaggggtggtttccCccagggccagggtctggttg	4	10	18	9	0	1	1	0	1	1	0	2	1	2	1	3	6	0	3	3	6	1	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:11397213C>G	ENST00000304623.8	-	6	731	c.542G>C	c.(541-543)gGg>gCg	p.G181A	CTNND2_ENST00000511377.1_Missense_Mutation_p.G90A|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.G181A|CTNND2_ENST00000503622.1_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	181					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTGGTTTCCCCCAGGGCCAG	0.607													24	65					0	0	0	0	G	11397213	C	G	11397213	3	3	298	1	0	0	0	0	1	0	0	0	4052	623	22	4	3203	4	CTNND2	5	11397213	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	8648124	11397213	169518047	93	53415											
DNAH5	1767	broad.mit.edu	37	chr5	13714614	13714614	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccctccaccagaggtgtccTtgggttggatgcctaggatg	6	10	13	12	0	0	1	0	0	0	1	2	3	2	3	6	4	1	1	6	4	1	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:13714614T>A	ENST00000265104.4	-	75	13129	c.13025A>T	c.(13024-13026)aAg>aTg	p.K4342M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4342					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGGTGTCCTTGGGTTGGAT	0.607									Kartagener syndrome				15	76					0	0	0	0	A	13714614	T	A	13714614	3	1	298	1	0	0	0	0	1	0	0	0	4641	1609	56	5	869	5	DNAH5	5	13714614	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	2317401	13714614	167200646	94	53416											
PRDM9	56979	broad.mit.edu	37	chr5	23524491	23524491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagcagaacctggtggccttCcagtaccacaggcagatctt	10	8	11	12	0	1	2	0	0	1	2	2	3	2	2	4	3	3	3	4	3	2	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:23524491C>G	ENST00000296682.3	+	10	1181	c.999C>G	c.(997-999)ttC>ttG	p.F333L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	333	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGTGGCCTTCCAGTACCACA	0.537										HNSCC(3;0.000094)			13	57					0	0	0	0	G	23524491	C	G	23524491	3	3	298	1	0	0	0	0	1	0	0	0	12543	854	30	2	1033	2	PRDM9	5	23524491	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	9809877	23524491	157390769	95	53417											
HMGCS1	3157	broad.mit.edu	37	chr5	43295957	43295957	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttctgaaccagtttacAatatggtgagtgaaagatca	15	12	9	5	0	2	5	1	3	1	2	2	5	2	5	1	1	2	1	1	1	5	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:43295957A>T	ENST00000325110.6	-	6	1008	c.802T>A	c.(802-804)Tgt>Agt	p.C268S	HMGCS1_ENST00000433297.2_Missense_Mutation_p.C268S	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	268					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ACCAGTTTACAATATGGTGAG	0.353													11	55					0	0	0	0	T	43295957	A	T	43295957	3	4	298	1	0	0	0	0	1	0	0	0	7282	130	5	5	784	5	HMGCS1	5	43295957	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	19771466	43295957	137619303	96	53418											
MCCC2	64087	broad.mit.edu	37	chr5	70952610	70952610	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccagcagacaccagaCtggtcttgggtctcagtttt	8	13	10	10	0	2	3	1	1	2	2	4	3	3	3	2	2	1	2	2	2	0	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:70952610C>T	ENST00000340941.6	+	17	1744	c.1615C>T	c.(1615-1617)Ctg>Ttg	p.L539L	MCCC2_ENST00000323375.8_Silent_p.L501L	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	539	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGACACCAGACTGGTCTTGGG	0.413													37	74					0	0	0	0	T	70952610	C	T	70952610	2	4	298	1	0	0	0	0	0	0	0	1	9444	564	20	4		4	MCCC2	5	70952610	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	27656653	70952610	109962650	97	53419											
IQGAP2	10788	broad.mit.edu	37	chr5	75989261	75989261	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagagacaccagcaactgcGcaacaggtaatttgacttta	14	10	8	9	1	0	2	0	1	0	1	0	3	0	2	1	1	4	3	1	1	5	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:75989261G>T	ENST00000274364.6	+	31	4284	c.3987G>T	c.(3985-3987)gcG>gcT	p.A1329A	IQGAP2_ENST00000379730.3_Silent_p.A831A|IQGAP2_ENST00000502745.1_Silent_p.A825A|IQGAP2_ENST00000396234.3_Silent_p.A825A|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1329					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CAGCAACTGCGCAACAGGTAA	0.363													7	19					5.4927e-09	1.54374e-08	1	0	T	75989261	G	T	75989261	2	4	298	1	0	0	0	0	0	0	0	1	7868	1074	38	3		3	IQGAP2	5	75989261	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	5036651	75989261	104925999	98	53420											
VCAN	1462	broad.mit.edu	37	chr5	82836553	82836553	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatcggataaaaatactatCatagatattgatcatactaa	19	12	4	6	1	2	2	2	1	0	1	3	3	2	3	0	1	2	0	0	1	9	8			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:82836553C>G	ENST00000265077.3	+	8	8296	c.7731C>G	c.(7729-7731)atC>atG	p.I2577M	VCAN_ENST00000343200.5_Missense_Mutation_p.I1590M|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2577	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAATACTATCATAGATATTG	0.358													17	28					0	0	0	0	G	82836553	C	G	82836553	3	3	298	1	0	0	0	0	1	0	0	0	17234	816	29	2	7757	2	VCAN	5	82836553	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	6847292	82836553	98078707	99	53421											
PCDHB8	56128	broad.mit.edu	37	chr5	140559200	140559200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acgaggccctgcaggcgttcGagttccgggtgggcgcttca	5	8	16	12	5	1	0	1	0	0	0	3	2	2	0	2	4	1	4	2	4	0	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:140559200G>C	ENST00000239444.2	+	1	1830	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		529	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCGTTCGAGTTCCGGGT	0.677													54	255					0	0	0	0	C	140559200	G	C	140559200	3	2	298	1	0	0	0	0	1	0	0	0	11619	1059	37	3	1587	3	PCDHB8	5	140559200	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	57722647	140559200	40356060	100	53422											
PCDHB16	57717	broad.mit.edu	37	chr5	140563937	140563937	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactcgggccagaatgcctgGctgtcgtaccagctgctcaa	8	8	12	13	2	1	1	1	0	0	1	3	2	1	1	3	2	4	4	3	2	3	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:140563937G>C	ENST00000361016.2	+	1	2958	c.1803G>C	c.(1801-1803)tgG>tgC	p.W601C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		601	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAATGCCTGGCTGTCGTACC	0.721													52	40					0	0	0	0	C	140563937	G	C	140563937	3	2	298	1	0	0	0	0	1	0	0	0	11612	1212	42	4	1805	4	PCDHB16	5	140563937	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	4737	140563937	40351323	101	53423											
PCDHB13	56123	broad.mit.edu	37	chr5	140594219	140594219	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagaactatataatcagccCcaactcctattttcgggtcc	11	12	6	12	1	1	1	1	1	0	1	4	2	3	1	4	1	3	0	4	1	6	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:140594219C>G	ENST00000341948.4	+	1	711	c.524C>G	c.(523-525)cCc>cGc	p.P175R		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		175	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAATCAGCCCCAACTCCTAT	0.493													25	43					0	0	0	0	G	140594219	C	G	140594219	3	3	298	1	0	0	0	0	1	0	0	0	11609	623	22	4	526	4	PCDHB13	5	140594219	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	30282	140594219	40321041	102	53424											
MGAT1	4245	broad.mit.edu	37	chr5	180219088	180219088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgcccctgccgctgctccGgccgccgcatccagtcgtcc	2	6	10	23	6	0	0	0	0	0	0	4	0	3	0	9	1	2	3	9	1	0	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:180219088G>T	ENST00000446023.2	-	3	1634	c.884C>A	c.(883-885)cCg>cAg	p.P295Q	MGAT1_ENST00000427865.2_Missense_Mutation_p.P295Q|MGAT1_ENST00000393340.3_Missense_Mutation_p.P295Q|MGAT1_ENST00000307826.4_Missense_Mutation_p.P295Q|MGAT1_ENST00000333055.3_Missense_Mutation_p.P295Q	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	295					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCTGCTCCGGCCGCCGCAT	0.647													17	12					3.8784e-16	1.21352e-15	1	0	T	180219088	G	T	180219088	3	4	298	1	0	0	0	0	1	0	0	0	9611	1116	39	3	457	3	MGAT1	5	180219088	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	39624869	180219088	696172	103	53425											
MRS2	57380	broad.mit.edu	37	chr6	24423169	24423169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttctcttttaggaccAtagaattttttggctgatta	8	19	8	6	0	1	2	0	1	1	1	2	3	1	3	1	2	0	2	1	2	4	8			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:24423169A>G	ENST00000378386.3	+	10	1205	c.1112A>G	c.(1111-1113)cAt>cGt	p.H371R	MRS2_ENST00000443868.2_Missense_Mutation_p.H374R|MRS2_ENST00000378353.1_Missense_Mutation_p.H371R|MRS2_ENST00000543597.1_Missense_Mutation_p.H80R|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.H321R	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	371					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTTTAGGACCATAGAATTTTT	0.438													40	58					0	0	0	0	G	24423169	A	G	24423169	3	3	298	1	0	0	0	0	1	0	0	0	9921	217	8	5	1150	5	MRS2	6	24423169	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08		24423169	146691898	104	53426											
C6orf25	80739	broad.mit.edu	37	chr6	31692374	31692374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccttacaggcgcctgcccCcgcaaccgattcgaccactc	7	7	7	20	4	0	0	0	0	0	0	3	2	1	0	6	1	3	1	6	1	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:31692374C>A	ENST00000375809.3	+	4	522	c.511C>A	c.(511-513)Ccg>Acg	p.P171T	C6orf25_ENST00000480039.1_Missense_Mutation_p.P171T|C6orf25_ENST00000375805.2_Silent_p.P140P|C6orf25_ENST00000375810.4_Missense_Mutation_p.P171T	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	171						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						GCGCCTGCCCCCGCAACCGAT	0.542													14	86					2.23348e-06	5.84647e-06	1	0	A	31692374	C	A	31692374	3	1	298	1	0	0	0	0	1	0	0	0	2381	623	22	4	525	4	C6orf25	6	31692374	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	7269205	31692374	139422693	105	53427											
EHMT2	10919	broad.mit.edu	37	chr6	31864040	31864040	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctcccatcccactcacCtgtccatttcctggtttgga	6	14	5	16	0	2	0	1	0	1	0	7	1	6	1	5	2	0	1	5	2	0	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:31864040C>T	ENST00000395728.3	-	3	752	c.753_splice	c.e3+1	p.Q251_splice	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Splice_Site_p.Q194_splice|EHMT2_ENST00000375528.4_Splice_Site_p.Q251_splice|EHMT2_ENST00000375530.4_Splice_Site_p.Q194_splice			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	194					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCCCACTCACCTGTCCATTTC	0.512													44	62					0	0	0	0	T	31864040	C	T	31864040	5	4	298	1	0	0	0	0	0	0	1	0	5020	695	24	4	3150	4	EHMT2	6	31864040	Splice_Site	SNP	C	TCGA-CV-7254-01A-11D-2012-08	171666	31864040	139251027	106	53428											
TDRD6	221400	broad.mit.edu	37	chr6	46660541	46660541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgctggagaacaggtagCagacaggagaaattgtatcc	14	7	13	7	0	0	3	0	0	0	3	1	6	1	3	1	3	3	4	1	3	4	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:46660541C>A	ENST00000544460.1	+	1	4930	c.4676C>A	c.(4675-4677)gCa>gAa	p.A1559E	TDRD6_ENST00000316081.6_Missense_Mutation_p.A1559E	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1559					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAACAGGTAGCAGACAGGAGA	0.388													6	47					1.06961e-07	2.94419e-07	1	0	A	46660541	C	A	46660541	3	1	298	1	0	0	0	0	1	0	0	0	15828	710	25	4	4678	4	TDRD6	6	46660541	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	14796501	46660541	124454526	107	53429											
LAMA4	3910	broad.mit.edu	37	chr6	112512959	112512959	+	Frame_Shift_Del	DEL	A	A	-																															gtgacttcatcacaatcttcAaagatcaggttgggatctga																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:112512959delA	ENST00000230538.7	-	6	994	c.597delT	c.(595-597)ttfs	p.F199fs	LAMA4_ENST00000424408.2_Frame_Shift_Del_p.F199fs|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000522006.1_Frame_Shift_Del_p.F199fs|LAMA4_ENST00000389463.4_Frame_Shift_Del_p.F199fs	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	199	Laminin EGF-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACAATCTTCAAAGATCAGGT	0.483													11	34	---	---	---	---					-	112512959	A	-	112512959	7	5	298	1	0	1	0	1	0	0	0	0	8661	127	5	0	5010	0	LAMA4	6	112512959	Frame_Shift_Del	DEL	A	TCGA-CV-7254-01A-11D-2012-08	65852418	112512959	58602108	108	53430											
RFX6	222546	broad.mit.edu	37	chr6	117240431	117240431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttgtatcttctctgaaacGacaaacatctttcttacatc	12	16	3	10	1	4	1	0	1	4	0	6	2	4	1	0	0	3	1	0	0	4	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:117240431G>A	ENST00000332958.2	+	11	1170	c.1154G>A	c.(1153-1155)cGa>cAa	p.R385Q		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	385					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.R385Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCTCTGAAACGACAAACATCT	0.388													9	43					0	0	0	0	A	117240431	G	A	117240431	3	1	298	1	0	0	0	0	1	0	0	0	13349	1058	37	1	1196	1	RFX6	6	117240431	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	4727472	117240431	53874636	109	53431											
TMEM200A	114801	broad.mit.edu	37	chr6	130761863	130761863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaaacaacactgtcaaCaaatgaaactcaggtcattc	16	9	6	10	0	3	2	3	2	0	0	4	2	3	2	0	1	5	1	0	1	5	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:130761863C>T	ENST00000392429.1	+	2	2674	c.296C>T	c.(295-297)aCa>aTa	p.T99I	TMEM200A_ENST00000296978.3_Missense_Mutation_p.T99I|TMEM200A_ENST00000545622.1_Missense_Mutation_p.T99I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	99						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ACACTGTCAACAAATGAAACT	0.418													27	42					0	0	0	0	T	130761863	C	T	130761863	3	4	298	1	0	0	0	0	1	0	0	0	16217	478	17	4	298	4	TMEM200A	6	130761863	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	13521432	130761863	40353204	110	53432											
C6orf118	168090	broad.mit.edu	37	chr6	165715309	165715309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcctgcgccatccaggagGgccccgtccaggagggcctc	5	5	13	18	2	0	0	0	0	0	0	4	2	3	2	8	4	1	0	8	4	0	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:165715309G>T	ENST00000543069.1	-	2	771	c.190C>A	c.(190-192)Cct>Act	p.P64T	C6orf118_ENST00000230301.8_Missense_Mutation_p.P168T			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	168										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CATCCAGGAGGGCCCCGTCCA	0.622													33	42					8.4185e-14	2.55425e-13	1	0	T	165715309	G	T	165715309	3	4	298	1	0	0	0	0	1	0	0	0	2344	1232	43	4	939	4	C6orf118	6	165715309	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	34953446	165715309	5399758	111	53433											
PDE10A	10846	broad.mit.edu	37	chr6	165832125	165832125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctacttctagctgtacctTatctctttggtcttcttgaa	6	20	5	10	0	5	1	0	1	5	0	6	1	5	1	1	1	3	2	1	1	5	9			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:165832125T>C	ENST00000366882.1	-	12	1120	c.966A>G	c.(964-966)atA>atG	p.I322M	PDE10A_ENST00000539869.2_Missense_Mutation_p.I332M|PDE10A_ENST00000354448.4_Missense_Mutation_p.I322M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	322	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGCTGTACCTTATCTCTTTGG	0.413													19	29					0	0	0	0	C	165832125	T	C	165832125	3	2	298	1	0	0	0	0	1	0	0	0	11701	1744	61	5	1421	5	PDE10A	6	165832125	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	116816	165832125	5282942	112	53434											
MLLT4	4301	broad.mit.edu	37	chr6	168344628	168344628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcttctcctagggcggcaGaactcatgacaagaacaagc	12	8	9	12	1	3	3	1	1	2	2	4	3	3	3	1	2	3	1	1	2	5	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:168344628G>A	ENST00000366806.2	+	26	3368	c.3226G>A	c.(3226-3228)Gaa>Aaa	p.E1076K	MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000400822.3_Missense_Mutation_p.E1075K|MLLT4_ENST00000351017.4_Missense_Mutation_p.E1083K|MLLT4_ENST00000447894.2_Missense_Mutation_p.E1076K|MLLT4_ENST00000392112.1_Missense_Mutation_p.E1059K|MLLT4_ENST00000344191.4_Missense_Mutation_p.E1076K|MLLT4_ENST00000392108.3_Missense_Mutation_p.E1076K			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1076	PDZ.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TAGGGCGGCAGAACTCATGAC	0.478			T	MLL	AL								25	38					0	0	0	0	A	168344628	G	A	168344628	3	1	298	1	0	0	0	0	1	0	0	0	9698	943	33	2	3324	2	MLLT4	6	168344628	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	2512503	168344628	2770439	113	53435											
MIOS	54468	broad.mit.edu	37	chr7	7622858	7622858	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctttgtgggtggataaaGaaaggaacggatgtagacgt	13	9	15	4	2	0	2	0	0	0	2	0	5	0	5	0	4	2	2	0	4	5	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:7622858G>A	ENST00000340080.4	+	6	1924	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K	MIOS_ENST00000405785.1_Silent_p.K501K|MIOS_ENST00000461907.2_3'UTR	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	501										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTGGATAAAGAAAGGAACGG	0.413													6	84					0	0	0	0	A	7622858	G	A	7622858	2	1	298	1	0	0	0	0	0	0	0	1	9658	933	33	2		2	MIOS	7	7622858	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08		7622858	151515805	114	53436											
TBRG4	9238	broad.mit.edu	37	chr7	45141455	45141455	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatactgcgtggccacctcGaggctgcccttgtcggcgct	4	9	12	16	4	0	0	0	0	0	0	2	1	0	0	4	3	3	2	4	3	1	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:45141455G>A	ENST00000258770.3	-	8	1657	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	TBRG4_ENST00000494076.1_Silent_p.L512L|TBRG4_ENST00000361278.3_Silent_p.L402L|TBRG4_ENST00000395655.4_Silent_p.L402L	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	512					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						TGGCCACCTCGAGGCTGCCCT	0.662													15	62					0	0	0	0	A	45141455	G	A	45141455	2	1	298	1	0	0	0	0	0	0	0	1	15743	1045	37	1		1	TBRG4	7	45141455	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	37518597	45141455	113997208	115	53437											
CALN1	83698	broad.mit.edu	37	chr7	71571178	71571178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgatggccagctccacctCgcttggcatgtaccccaaag	9	8	10	14	1	0	1	0	1	0	0	2	2	1	1	5	2	2	4	5	2	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:71571178C>T	ENST00000395275.2	-	4	734	c.346G>A	c.(346-348)Gag>Aag	p.E116K	CALN1_ENST00000405452.2_Missense_Mutation_p.E74K|CALN1_ENST00000329008.5_Missense_Mutation_p.E74K|CALN1_ENST00000395276.2_Missense_Mutation_p.E74K|CALN1_ENST00000412588.1_Missense_Mutation_p.E116K|CALN1_ENST00000431984.1_Missense_Mutation_p.E74K	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	74						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AGCTCCACCTCGCTTGGCATG	0.597													4	44					0	0	0	0	T	71571178	C	T	71571178	3	4	298	1	0	0	0	0	1	0	0	0	2616	893	31	1	455	1	CALN1	7	71571178	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	26429723	71571178	87567485	116	53438											
PCLO	27445	broad.mit.edu	37	chr7	82580057	82580057	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgagctaacgtctcctGcctcatcatgaactgggctt	7	13	9	12	1	3	2	2	2	1	0	4	2	3	2	2	1	5	3	2	1	2	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:82580057G>C	ENST00000423517.2	-	6	10184	c.9847C>G	c.(9847-9849)Cag>Gag	p.Q3283E	PCLO_ENST00000333891.8_Missense_Mutation_p.Q3283E|PCLO_ENST00000437081.1_Missense_Mutation_p.Q3E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3214					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACGTCTCCTGCCTCATCATG	0.483													19	175					0	0	0	0	C	82580057	G	C	82580057	3	2	298	1	0	0	0	0	1	0	0	0	11654	1328	46	4	5678	4	PCLO	7	82580057	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	11008879	82580057	76558606	117	53439											
SAMD9	54809	broad.mit.edu	37	chr7	92733867	92733867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatcagaagctctttctCtttgccaggaacttggatca	10	13	8	10	0	4	2	2	1	2	1	5	4	4	4	1	2	3	1	1	2	2	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:92733867C>A	ENST00000379958.2	-	3	1813	c.1544G>T	c.(1543-1545)aGa>aTa	p.R515I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	515						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCTCTTTCTCTTTGCCAGGA	0.388													15	156					1.3612e-06	3.61034e-06	1	0	A	92733867	C	A	92733867	3	1	298	1	0	0	0	0	1	0	0	0	13911	913	32	2	3229	2	SAMD9	7	92733867	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	10153810	92733867	66404796	118	53440											
SAMD9L	219285	broad.mit.edu	37	chr7	92762801	92762801	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaccaatgttttttcataTcgcaaatccttttctgctaa	11	18	3	9	1	2	0	1	0	1	0	4	0	3	0	2	0	2	3	2	0	5	8			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:92762801T>C	ENST00000318238.4	-	5	3700	c.2484A>G	c.(2482-2484)cgA>cgG	p.R828R	SAMD9L_ENST00000437805.1_Silent_p.R828R|SAMD9L_ENST00000411955.1_Silent_p.R828R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	828										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTTTCATATCGCAAATCCT	0.358													93	58					0	0	0	0	C	92762801	T	C	92762801	2	2	298	1	0	0	0	0	0	0	0	1	13912	1422	50	5		5	SAMD9L	7	92762801	Silent	SNP	T	TCGA-CV-7254-01A-11D-2012-08	28934	92762801	66375862	119	53441											
HEPACAM2	253012	broad.mit.edu	37	chr7	92837946	92837946	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcttgcctgccggttatgTtgttgtaagcacagcacaca	9	12	9	11	1	1	0	0	0	1	0	1	0	1	0	2	1	4	6	2	1	2	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:92837946T>C	ENST00000394468.2	-	4	1036	c.959A>G	c.(958-960)aAc>aGc	p.N320S	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.N343S|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.N308S|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.N308S	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	320	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GCCGGTTATGTTGTTGTAAGC	0.408													11	159					0	0	0	0	C	92837946	T	C	92837946	3	2	298	1	0	0	0	0	1	0	0	0	7103	1725	60	5	457	5	HEPACAM2	7	92837946	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	75145	92837946	66300717	120	53442											
DLX5	1749	broad.mit.edu	37	chr7	96651486	96651486	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtctagtgcatggcagcGccgtatttacctgtgtttgt	6	14	12	9	2	1	0	0	0	1	0	1	0	1	0	2	2	3	4	2	2	3	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:96651486G>C	ENST00000486603.2	-	2	877	c.551C>G	c.(550-552)gCg>gGg	p.A184G	DLX5_ENST00000493764.1_Intron|DLX5_ENST00000222598.4_Intron			P56178	DLX5_HUMAN	distal-less homeobox 5	0					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GCATGGCAGCGCCGTATTTAC	0.572													102	66					0	0	0	0	C	96651486	G	C	96651486	3	2	298	1	0	0	0	0	1	0	0	0	4611	1102	38	3		3	DLX5	7	96651486	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	3813540	96651486	62487177	121	53443											
TMEM130	222865	broad.mit.edu	37	chr7	98449123	98449123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggatgctgaagcagtagtcCccagggtccctgaaggtgtg	8	8	15	10	1	0	2	0	2	0	0	2	3	2	3	3	3	2	3	3	3	3	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:98449123C>T	ENST00000450876.1	-	6	1990	c.675G>A	c.(673-675)ggG>ggA	p.G225G	TMEM130_ENST00000339375.4_Silent_p.G309G|TMEM130_ENST00000345589.4_Silent_p.G207G|TMEM130_ENST00000546258.1_Silent_p.G290G|TMEM130_ENST00000416379.2_Silent_p.G309G			Q8N3G9	TM130_HUMAN	transmembrane protein 130	309	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCAGTAGTCCCCAGGGTCCC	0.592													61	42					0	0	0	0	T	98449123	C	T	98449123	2	4	298	1	0	0	0	0	0	0	0	1	16137	610	22	4		4	TMEM130	7	98449123	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	1797637	98449123	60689540	122	53444											
RELN	5649	broad.mit.edu	37	chr7	103126741	103126742	+	Frame_Shift_Ins	INS	-	-	A																															gcgtagggggccagctgcccINSacagccacttcctatgactc																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:103126741_103126742insA	ENST00000428762.1	-	61	10044_10045	c.9885_9886insT	c.(9883-9888)tgggcafs	p.WA3295fs	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Frame_Shift_Ins_p.WA3295fs|RELN_ENST00000424685.2_Frame_Shift_Ins_p.WA3295fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3295					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCAGCTGCCCACAGCCACTTC	0.515													64	82	---	---	---	---					A	103126742	-	A	103126741	7	5	298	1	0	1	1	0	0	0	0	0	13302	594	21	0	516	0	RELN	7	103126741	Frame_Shift_Ins	INS	-	TCGA-CV-7254-01A-11D-2012-08	4677618	103126741	56011922	123	53445											
C7orf60	154743	broad.mit.edu	37	chr7	112555359	112555359	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttaattcataaaagtacttAcctacaacaccattcaatac	17	12	2	10	0	2	0	2	0	0	0	2	0	2	0	2	0	5	2	2	0	9	8			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:112555359A>G	ENST00000297145.4	-	2	468		c.e2+1		C7orf60_ENST00000485446.1_Splice_Site	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60											breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AAAAGTACTTACCTACAACAC	0.373													32	52					0	0	0	0	G	112555359	A	G	112555359	5	3	298	1	0	0	0	0	0	0	1	0	2430	405	14	5	929	5	C7orf60	7	112555359	Splice_Site	SNP	A	TCGA-CV-7254-01A-11D-2012-08	9428618	112555359	46583304	124	53446											
ANKRD7	56311	broad.mit.edu	37	chr7	117874864	117874864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcactatgctgtttgtgGtcaaagtttgtcattagttg	7	19	9	6	0	4	0	3	0	1	0	4	0	4	0	0	1	1	4	0	1	3	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:117874864G>A	ENST00000357099.4	+	4	637	c.464G>A	c.(463-465)gGt>gAt	p.G155D	ANKRD7_ENST00000265224.4_Missense_Mutation_p.G135D|ANKRD7_ENST00000417525.1_Missense_Mutation_p.G82D|ANKRD7_ENST00000433239.1_Missense_Mutation_p.G82D|ANKRD7_ENST00000477532.1_3'UTR			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	135					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GCTGTTTGTGGTCAAAGTTTG	0.333													24	43					0	0	0	0	A	117874864	G	A	117874864	3	1	298	1	0	0	0	0	1	0	0	0	685	1261	44	4	414	4	ANKRD7	7	117874864	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	5319505	117874864	41263799	125	53447											
PLXNA4	91584	broad.mit.edu	37	chr7	132192549	132192549	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggtactccaccccactgcGctcacagccaatgggcacct	8	6	9	18	2	1	0	1	0	0	0	2	0	2	0	5	2	3	3	5	2	2	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:132192549G>C	ENST00000359827.3	-	2	1866	c.904C>G	c.(904-906)Cgc>Ggc	p.R302G	PLXNA4_ENST00000423507.2_Missense_Mutation_p.R302G|PLXNA4_ENST00000378539.5_Missense_Mutation_p.R302G|PLXNA4_ENST00000321063.4_Missense_Mutation_p.R302G			Q9HCM2	PLXA4_HUMAN	plexin A4	302	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACCCCACTGCGCTCACAGCCA	0.592													11	41					0	0	0	0	C	132192549	G	C	132192549	3	2	298	1	0	0	0	0	1	0	0	0	12194	1087	38	3	5218	3	PLXNA4	7	132192549	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	14317685	132192549	26946114	126	53448											
MGAM	8972	broad.mit.edu	37	chr7	141794549	141794549	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttcctcttgtttcagacGggagcagatatctgtgggtt	7	16	11	7	1	3	2	1	0	2	2	4	3	4	3	1	2	1	3	1	2	2	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:141794549G>T	ENST00000475668.2	+	63	7398	c.7344G>T	c.(7342-7344)acG>acT	p.T2448T	MGAM_ENST00000549489.2_Silent_p.T1552T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1552					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTTTCAGACGGGAGCAGATA	0.473													8	46					1.06961e-07	2.94419e-07	1	0	T	141794549	G	T	141794549	2	4	298	1	0	0	0	0	0	0	0	1	9610	1103	39	3		3	MGAM	7	141794549	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	9602000	141794549	17344114	127	53449											
KCNH2	3757	broad.mit.edu	37	chr7	150647315	150647315	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagccccgggagatgaagTacagggcggtgagcaggtcc	9	5	18	9	2	0	3	0	2	0	1	1	5	1	4	3	5	3	2	3	5	2	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:150647315T>A	ENST00000392968.2	-	7	3171	c.2051A>T	c.(2050-2052)tAc>tTc	p.Y684F	KCNH2_ENST00000430723.3_Missense_Mutation_p.Y780F|KCNH2_ENST00000262186.5_Missense_Mutation_p.Y780F|KCNH2_ENST00000330883.4_Missense_Mutation_p.Y440F			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	780					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGAGATGAAGTACAGGGCGGT	0.652													12	128					0	0	0	0	A	150647315	T	A	150647315	3	1	298	1	0	0	0	0	1	0	0	0	8085	1638	57	5	1437	5	KCNH2	7	150647315	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	8852766	150647315	8491348	128	53450											
SGCZ	137868	broad.mit.edu	37	chr8	13948034	13948034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaagtttgccattggggCagacgcagagttcatacact	11	10	12	8	1	1	2	1	0	0	2	1	2	1	2	1	3	2	5	1	3	3	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:13948034C>G	ENST00000382080.1	-	8	1572	c.857G>C	c.(856-858)tGc>tCc	p.C286S	SGCZ_ENST00000421524.2_Missense_Mutation_p.C239S	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	273					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.C286F(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GCCATTGGGGCAGACGCAGAG	0.498													15	69					0	0	0	0	G	13948034	C	G	13948034	3	3	298	1	0	0	0	0	1	0	0	0	14291	710	25	4	85	4	SGCZ	8	13948034	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08		13948034	132415988	129	53451											
STC1	6781	broad.mit.edu	37	chr8	23702425	23702425	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgtgtttgggcacagTggtctgtctgcaggatgtgg	4	13	19	5	0	2	0	0	0	2	0	2	1	2	1	0	5	1	3	0	5	0	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:23702425T>G	ENST00000290271.2	-	4	885	c.602A>C	c.(601-603)cAc>cCc	p.H201P	STC1_ENST00000524323.1_Missense_Mutation_p.H132P	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	201					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TTGGGCACAGTGGTCTGTCTG	0.542													13	48					0	0	0	0	G	23702425	T	G	23702425	3	3	298	1	0	0	0	0	1	0	0	0	15365	1696	59	5	145	5	STC1	8	23702425	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	9754391	23702425	122661597	130	53452											
ADAM2	2515	broad.mit.edu	37	chr8	39682379	39682379	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcataattcctgtgccacTataactgtaaactctaaaat	14	15	3	9	0	2	0	1	0	1	0	3	0	3	0	2	0	3	1	2	0	7	7			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:39682379T>C	ENST00000265708.4	-	4	329	c.226A>G	c.(226-228)Agt>Ggt	p.S76G	ADAM2_ENST00000347580.4_Missense_Mutation_p.S76G|ADAM2_ENST00000379853.2_Missense_Mutation_p.S76G|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Missense_Mutation_p.S76G	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	76					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCTGTGCCACTATAACTGTAA	0.274													8	30					0	0	0	0	C	39682379	T	C	39682379	3	2	298	1	0	0	0	0	1	0	0	0	241	1522	53	5	2049	5	ADAM2	8	39682379	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	15979954	39682379	106681643	131	53453											
CHRNB3	1142	broad.mit.edu	37	chr8	42563960	42563960	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctgtattacattctaaTgacaccataaaagtatattt	14	14	4	9	1	1	1	0	1	1	0	1	1	1	1	2	0	1	2	2	0	7	8			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:42563960T>C	ENST00000289957.2	+	2	281	c.153T>C	c.(151-153)aaT>aaC	p.N51N	RP11-412B14.1_ENST00000527318.1_RNA	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	51					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TACATTCTAATGACACCATAA	0.408													32	56					0	0	0	0	C	42563960	T	C	42563960	2	2	298	1	0	0	0	0	0	0	0	1	3421	1461	51	5		5	CHRNB3	8	42563960	Silent	SNP	T	TCGA-CV-7254-01A-11D-2012-08	2881581	42563960	103800062	132	53454											
ASPH	444	broad.mit.edu	37	chr8	62438587	62438587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctttttccctcaggttttCatcctcaggcaggaagagac	8	12	8	13	0	3	1	3	0	0	1	5	3	5	2	3	3	0	2	3	3	1	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:62438587C>T	ENST00000541428.1	-	22	1922	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	ASPH_ENST00000379454.4_Missense_Mutation_p.E617K	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	617					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTCAGGTTTTCATCCTCAGGC	0.483													47	113					0	0	0	0	T	62438587	C	T	62438587	3	4	298	1	0	0	0	0	1	0	0	0	1057	835	29	2	443	2	ASPH	8	62438587	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	19874627	62438587	83925435	133	53455											
SLC7A13	157724	broad.mit.edu	37	chr8	87242004	87242004	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaagctaagtatggacActttcagcactgagctagct	14	10	9	8	0	1	2	1	2	0	0	1	3	1	3	0	1	4	5	0	1	5	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:87242004A>G	ENST00000297524.3	-	1	606	c.503T>C	c.(502-504)gTg>gCg	p.V168A	SLC7A13_ENST00000419776.2_Missense_Mutation_p.V168A|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	168						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AAGTATGGACACTTTCAGCAC	0.418													17	72					0	0	0	0	G	87242004	A	G	87242004	3	3	298	1	0	0	0	0	1	0	0	0	14783	159	6	5	925	5	SLC7A13	8	87242004	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	24803417	87242004	59122018	134	53456											
CSMD3	114788	broad.mit.edu	37	chr8	113301698	113301698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaatagtgaacagtaGacccaaaagtatacttctcg	15	9	9	8	1	1	2	0	1	1	1	2	3	1	3	1	1	3	3	1	1	8	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:113301698G>T	ENST00000297405.5	-	57	9288	c.9044C>A	c.(9043-9045)tCt>tAt	p.S3015Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.S2846Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2945Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2975Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3015	Sushi 21.					integral to membrane|plasma membrane		p.S2975F(1)|p.S3015F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGAACAGTAGACCCAAAAGT	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	67					6.33239e-15	1.95839e-14	1	0	T	113301698	G	T	113301698	3	4	298	1	0	0	0	0	1	0	0	0	3978	942	33	2	2139	2	CSMD3	8	113301698	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	26059694	113301698	33062324	135	53457											
ASAP1	50807	broad.mit.edu	37	chr8	131070203	131070203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatattcgtacgtacccaCcactcctggtcctcttcccc	6	12	6	17	2	1	0	0	0	1	0	5	1	4	1	6	2	2	2	6	2	3	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:131070203C>A	ENST00000357668.1	-	28	3339	c.3312G>T	c.(3310-3312)tgG>tgT	p.W1104C	ASAP1_ENST00000518721.1_Missense_Mutation_p.W1104C			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	1104	SH3.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TACGTACCCACCACTCCTGGT	0.512													68	94					6.20995e-33	2.04698e-32	1	0	A	131070203	C	A	131070203	3	1	298	1	0	0	0	0	1	0	0	0	1014	508	18	4	85	4	ASAP1	8	131070203	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	17768505	131070203	15293819	136	53458											
COL22A1	169044	broad.mit.edu	37	chr8	139728521	139728521	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagcctggagcccctgggagGcctgcttctccctgtgagaa	7	8	13	13	0	1	1	0	1	1	1	2	4	1	3	5	3	3	1	5	3	2	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:139728521G>T	ENST00000303045.6	-	29	2858	c.2412C>A	c.(2410-2412)ggC>ggA	p.G804G	COL22A1_ENST00000435777.1_Silent_p.G804G|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	804	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCCTGGGAGGCCTGCTTCTC	0.587										HNSCC(7;0.00092)			3	12					6.4e-05	0.000160738	1	0	T	139728521	G	T	139728521	2	4	298	1	0	0	0	0	0	0	0	1	3711	1190	42	4		4	COL22A1	8	139728521	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	8658318	139728521	6635501	137	53459											
CDKN2A	1029	broad.mit.edu	37	chr9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacgggcagacggcccCaggcatcgcgcacgtccagc	7	3	14	17	5	0	1	0	0	0	1	3	1	2	1	4	4	1	3	4	4	0	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000530628.2_Silent_p.L124L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			42	19					0	0	0	0	T	21971029	C	T	21971029	4	4	298	1	0	0	0	0	0	1	0	0	3190	595	21	4	149	4	CDKN2A	9	21971029	Nonsense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08		21971029	119242402	138	53460											
DNAI1	27019	broad.mit.edu	37	chr9	34490414	34490414	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgactcctaagcagccCaaggagagaaagctcactaa	15	7	9	10	0	1	3	1	2	0	1	2	5	2	4	2	1	3	2	2	1	4	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:34490414C>A	ENST00000242317.4	+	7	720	c.549C>A	c.(547-549)ccC>ccA	p.P183P	DNAI1_ENST00000488369.1_3'UTR	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	183					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CTAAGCAGCCCAAGGAGAGAA	0.498									Kartagener syndrome				230	120					5.95591e-76	2.03008e-75	1	0	A	34490414	C	A	34490414	2	1	298	1	0	0	0	0	0	0	0	1	4645	581	21	4		4	DNAI1	9	34490414	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	12519385	34490414	106723017	139	53461											
TJP2	9414	broad.mit.edu	37	chr9	71845073	71845073	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctggtggcaatgatgtcggGatatttgttgctggcattca	7	14	14	6	1	1	1	1	1	0	0	2	2	1	2	0	4	1	5	0	4	2	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:71845073G>C	ENST00000377245.4	+	11	1804	c.1596G>C	c.(1594-1596)ggG>ggC	p.G532G	TJP2_ENST00000348208.4_Silent_p.G532G|TJP2_ENST00000265384.7_Silent_p.G532G|TJP2_ENST00000453658.2_Silent_p.G509G|TJP2_ENST00000539225.1_Silent_p.G563G|TJP2_ENST00000535702.1_Silent_p.G536G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	532	PDZ 3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ATGATGTCGGGATATTTGTTG	0.517													40	67					0	0	0	0	C	71845073	G	C	71845073	2	2	298	1	0	0	0	0	0	0	0	1	16024	1161	41	2		2	TJP2	9	71845073	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	37354659	71845073	69368358	140	53462											
TJP2	9414	broad.mit.edu	37	chr9	71866155	71866155	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagggtgaggaggtgggaGagagcagtgaggagcaagat	14	4	21	2	0	0	5	0	2	0	3	0	9	0	8	0	5	2	2	0	5	2	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:71866155G>T	ENST00000377245.4	+	21	3404	c.3196G>T	c.(3196-3198)Gag>Tag	p.E1066*	TJP2_ENST00000348208.4_Intron|TJP2_ENST00000453658.2_Intron|TJP2_ENST00000539225.1_Nonsense_Mutation_p.E1097*|TJP2_ENST00000535702.1_Nonsense_Mutation_p.E1033*	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1066					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGAGGTGGGAGAGAGCAGTGA	0.502													17	35					8.60227e-14	2.60016e-13	1	0	T	71866155	G	T	71866155	4	4	298	1	0	0	0	0	0	1	0	0	16024	943	33	2	3537	2	TJP2	9	71866155	Nonsense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	21082	71866155	69347276	141	53463											
TRPM6	140803	broad.mit.edu	37	chr9	77436731	77436731	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccaccaccagccccacGaccggcacgccttgtcttga	7	7	7	20	3	1	1	0	1	1	0	2	2	2	1	8	1	1	1	8	1	0	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:77436731G>T	ENST00000451710.3	-	8	1101	c.864C>A	c.(862-864)gtC>gtA	p.V288V	TRPM6_ENST00000449912.2_Silent_p.V283V|TRPM6_ENST00000376871.3_Silent_p.V288V|TRPM6_ENST00000361255.3_Silent_p.V283V|TRPM6_ENST00000376864.4_Silent_p.V288V|TRPM6_ENST00000360774.1_Silent_p.V288V|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376872.3_Silent_p.V288V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	288					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						CCAGCCCCACGACCGGCACGC	0.572													19	29					5.03518e-11	1.47736e-10	1	0	T	77436731	G	T	77436731	2	4	298	1	0	0	0	0	0	0	0	1	16685	1045	37	3		3	TRPM6	9	77436731	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	5570576	77436731	63776700	142	53464											
PTPN3	5774	broad.mit.edu	37	chr9	112189263	112189263	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcccatagtccagtacTgagacagaacattcttttcc	12	10	8	11	0	1	3	0	1	1	3	3	5	3	3	3	0	3	1	3	0	3	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:112189263T>G	ENST00000412145.1	-	7	3128	c.575A>C	c.(574-576)cAg>cCg	p.Q192P	PTPN3_ENST00000262539.3_Missense_Mutation_p.Q214P|PTPN3_ENST00000446349.1_Missense_Mutation_p.Q192P|PTPN3_ENST00000374541.2_Missense_Mutation_p.Q323P	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	323	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGTCCAGTACTGAGACAGAAC	0.438													37	43					0	0	0	0	G	112189263	T	G	112189263	3	3	298	1	0	0	0	0	1	0	0	0	12871	1580	55	5	1833	5	PTPN3	9	112189263	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	34752532	112189263	29024168	143	53465											
PTGS1	5742	broad.mit.edu	37	chr9	125154726	125154726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactgaagaagctggtctGcctcaacaccaagacctgtc	12	7	8	14	0	2	3	1	1	1	2	3	3	2	3	3	1	3	1	3	1	4	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:125154726G>T	ENST00000362012.2	+	11	1708	c.1703G>T	c.(1702-1704)tGc>tTc	p.C568F	PTGS1_ENST00000540753.1_Missense_Mutation_p.C506F|PTGS1_ENST00000223423.4_Missense_Mutation_p.C531F|PTGS1_ENST00000373698.5_Missense_Mutation_p.C459F	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	568					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	AAGCTGGTCTGCCTCAACACC	0.577													40	65					1.49673e-21	4.81479e-21	1	0	T	125154726	G	T	125154726	3	4	298	1	0	0	0	0	1	0	0	0	12835	1319	46	4	1745	4	PTGS1	9	125154726	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	12965463	125154726	16058705	144	53466											
DNM1	1759	broad.mit.edu	37	chr9	130988359	130988359	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttttgaagccacagtgaaAaagcaggtgcagaagctcaa	15	7	11	8	0	1	3	1	2	0	1	1	3	1	3	1	1	4	4	1	1	5	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:130988359A>G	ENST00000393594.3	+	10	1296	c.1242A>G	c.(1240-1242)aaA>aaG	p.K414K	DNM1_ENST00000341179.7_Intron|DNM1_ENST00000486160.1_Silent_p.K414K|DNM1_ENST00000475805.1_Silent_p.K414K|DNM1_ENST00000372923.3_Intron			Q05193	DYN1_HUMAN	dynamin 1	414					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CCACAGTGAAAAAGCAGGTGC	0.562													9	32					0	0	0	0	G	130988359	A	G	130988359	2	3	298	1	0	0	0	0	0	0	0	1	4706	29	1	5		5	DNM1	9	130988359	Silent	SNP	A	TCGA-CV-7254-01A-11D-2012-08	5833633	130988359	10225072	145	53467											
PKN3	29941	broad.mit.edu	37	chr9	131482522	131482522	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgcctcggggcaggtgAgcaggatgccgaggagatca	10	4	18	9	3	1	2	1	1	0	1	2	6	1	3	2	5	3	2	2	5	1	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:131482522A>G	ENST00000291906.4	+	21	2810	c.2417A>G	c.(2416-2418)gAg>gGg	p.E806G		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	806	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGGGCAGGTGAGCAGGATGCC	0.642													21	20					0	0	0	0	G	131482522	A	G	131482522	3	3	298	1	0	0	0	0	1	0	0	0	12053	304	11	5	2499	5	PKN3	9	131482522	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	494163	131482522	9730909	146	53468											
ABL1	25	broad.mit.edu	37	chr9	133738362	133738362	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggcgggggccagtacggGgaggtgtacgagggcgtgtg	5	6	23	7	4	0	0	0	0	0	0	0	2	0	1	1	7	2	2	1	7	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:133738362G>A	ENST00000318560.5	+	4	1143	c.762G>A	c.(760-762)ggG>ggA	p.G254G		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	254	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|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|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|SH3 domain 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)	GCCAGTACGGGGAGGTGTACG	0.617			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								10	40					0	0	0	0	A	133738362	G	A	133738362	2	1	298	1	0	0	0	0	0	0	0	1	92	1219	43	4		4	ABL1	9	133738362	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	2255840	133738362	7475069	147	53469											
KIN	22944	broad.mit.edu	37	chr10	7808047	7808047	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtagtctgttcgggcagttCttttcttttcctcttcaatc	5	19	7	10	1	5	0	1	0	4	0	8	0	6	0	1	1	0	4	1	1	2	8			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:7808047C>G	ENST00000379562.3	-	9	865	c.818G>C	c.(817-819)aGa>aCa	p.R273T	KIN_ENST00000463666.1_5'UTR|KIN_ENST00000543003.1_Missense_Mutation_p.R167T|KIN_ENST00000535925.1_Missense_Mutation_p.R273T			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	273					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TCGGGCAGTTCTTTTCTTTTC	0.328													6	42					0	0	0	0	G	7808047	C	G	7808047	3	3	298	1	0	0	0	0	1	0	0	0	8367	913	32	2	383	2	KIN	10	7808047	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08		7808047	127726700	148	53470											
ITGA8	8516	broad.mit.edu	37	chr10	15688977	15688977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaatacaggtagatttGccctacttctctggggttgc	8	14	10	9	0	1	1	0	0	1	1	2	1	1	1	1	3	5	3	1	3	4	7			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:15688977G>T	ENST00000378076.3	-	12	1428	c.1075C>A	c.(1075-1077)Caa>Aaa	p.Q359K		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	359					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGGTAGATTTGCCCTACTTCT	0.502													18	101					5.03518e-11	1.47736e-10	1	0	T	15688977	G	T	15688977	3	4	298	1	0	0	0	0	1	0	0	0	7935	1328	46	4	2192	4	ITGA8	10	15688977	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	7880930	15688977	119845770	149	53471											
ARHGAP21	57584	broad.mit.edu	37	chr10	24896427	24896427	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataatacacccgagacttaCaattttgcatcttctctgta	13	14	4	10	1	2	1	0	0	2	1	3	2	2	1	1	0	3	2	1	0	6	7			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:24896427C>T	ENST00000396432.2	-	11	3171		c.e11+1		ARHGAP21_ENST00000493154.1_Splice_Site|ARHGAP21_ENST00000320481.6_Splice_Site	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21						signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCGAGACTTACAATTTTGCAT	0.388													7	73					0	0	0	0	T	24896427	C	T	24896427	5	4	298	1	0	0	0	0	0	0	1	0	873	492	17	4	3255	4	ARHGAP21	10	24896427	Splice_Site	SNP	C	TCGA-CV-7254-01A-11D-2012-08	9207450	24896427	110638320	150	53472											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508752	37508752	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctaaaagagaaaaatgAggagatatttaattacaata	20	11	6	4	0	1	3	0	1	1	2	2	5	1	3	1	1	1	0	1	1	9	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:37508752A>T	ENST00000374660.1	+	40	4400	c.4301A>T	c.(4300-4302)gAg>gTg	p.E1434V	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1315V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1315V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGAAAAATGAGGAGATATTT	0.274													5	12					0	0	0	0	T	37508752	A	T	37508752	3	4	298	1	0	0	0	0	1	0	0	0	658	304	11	5	4078	5	ANKRD30A	10	37508752	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	12612325	37508752	98025995	151	53473											
C10orf71	118461	broad.mit.edu	37	chr10	50532083	50532083	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaagtccaaagcccctaGcctgctgttcaacctcaagg	11	8	7	15	0	2	0	2	0	0	0	3	0	3	0	5	1	5	2	5	1	6	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:50532083G>C	ENST00000374144.3	+	3	1781	c.1493G>C	c.(1492-1494)aGc>aCc	p.S498T	C10orf71_ENST00000323868.4_Missense_Mutation_p.S498T			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	498										endometrium(1)	1						AAAGCCCCTAGCCTGCTGTTC	0.512													4	20					0	0	0	0	C	50532083	G	C	50532083	3	2	298	1	0	0	0	0	1	0	0	0	1624	971	34	4	1495	4	C10orf71	10	50532083	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	13023331	50532083	85002664	152	53474											
TET1	80312	broad.mit.edu	37	chr10	70450631	70450631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccattttatcttaaaaaGttcagacaacactaaaactt	17	12	2	10	0	2	1	1	0	1	1	2	1	2	1	2	0	2	1	2	0	7	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:70450631G>T	ENST00000373644.4	+	12	5680	c.5471G>T	c.(5470-5472)aGt>aTt	p.S1824I		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1824					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATCTTAAAAAGTTCAGACAAC	0.453													14	68					9.31168e-06	2.40602e-05	1	0	T	70450631	G	T	70450631	3	4	298	1	0	0	0	0	1	0	0	0	15863	1029	36	4	5513	4	TET1	10	70450631	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	19918548	70450631	65084116	153	53475											
SRGN	5552	broad.mit.edu	37	chr10	70847958	70847958	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcggcttgtcctggctctTgccctcatcctggttctgga	3	14	11	13	1	3	0	1	0	2	0	6	1	5	1	3	4	1	3	3	4	0	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:70847958T>C	ENST00000242465.3	+	1	85	c.45T>C	c.(43-45)ctT>ctC	p.L15L	SRGN_ENST00000462445.1_3'UTR	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin	15					apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						TCCTGGCTCTTGCCCTCATCC	0.493													17	69					0	0	0	0	C	70847958	T	C	70847958	2	2	298	1	0	0	0	0	0	0	0	1	15238	1799	63	5		5	SRGN	10	70847958	Silent	SNP	T	TCGA-CV-7254-01A-11D-2012-08	397327	70847958	64686789	154	53476											
ANXA11	311	broad.mit.edu	37	chr10	81915641	81915641	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacagatcttcagcagaaTcttccggtaatcccctgaag	12	9	7	13	1	3	3	1	1	2	2	5	3	5	3	4	1	1	2	4	1	3	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:81915641T>A	ENST00000438331.1	-	17	1968	c.1486A>T	c.(1486-1488)Att>Ttt	p.I496F	ANXA11_ENST00000360615.4_Missense_Mutation_p.I496F|ANXA11_ENST00000422982.3_Missense_Mutation_p.I496F|ANXA11_ENST00000265447.4_Missense_Mutation_p.I496F|ANXA11_ENST00000535999.1_Missense_Mutation_p.I496F|ANXA11_ENST00000537102.1_Missense_Mutation_p.I463F|ANXA11_ENST00000372231.3_Missense_Mutation_p.I496F	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	496					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TTCAGCAGAATCTTCCGGTAA	0.517													36	117					0	0	0	0	A	81915641	T	A	81915641	3	1	298	1	0	0	0	0	1	0	0	0	715	1435	50	5	35	5	ANXA11	10	81915641	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	11067683	81915641	53619106	155	53477											
SLC16A12	387700	broad.mit.edu	37	chr10	91193071	91193071	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtagctgccggtggtaTctaccagccgtcctgtaaca	8	10	11	12	2	1	0	0	0	1	0	2	0	2	0	4	2	5	4	4	2	4	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:91193071T>A	ENST00000341233.4	-	8	1601	c.1211A>T	c.(1210-1212)gAt>gTt	p.D404V	SLC16A12_ENST00000371790.4_Missense_Mutation_p.D434V	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	404						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GCCGGTGGTATCTACCAGCCG	0.368													8	31					0	0	0	0	A	91193071	T	A	91193071	3	1	298	1	0	0	0	0	1	0	0	0	14493	1435	50	5	253	5	SLC16A12	10	91193071	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	9277430	91193071	44341676	156	53478											
ZNF518A	9849	broad.mit.edu	37	chr10	97916167	97916167	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaaaatgagatagttgatAggtcggcacctaaaccaaaa	18	8	9	6	1	0	3	0	3	0	1	1	4	0	3	2	2	1	2	2	2	8	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:97916167A>C	ENST00000534948.1	+	0	945							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GATAGTTGATAGGTCGGCACC	0.279													11	49					0	0	0	0	C	97916167	A	C	97916167	1	2	298	0	1	0	0	0	0	0	0	0	18057	411	15	5		5	ZNF518A	10	97916167	RNA	SNP	A	TCGA-CV-7254-01A-11D-2012-08	6723096	97916167	37618580	157	53479											
SEC31B	25956	broad.mit.edu	37	chr10	102267289	102267289	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagcactaactgggtggcTatgtcaggatgccaggccag	10	7	13	11	0	1	0	1	0	0	0	1	1	1	1	2	4	3	2	2	4	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:102267289T>A	ENST00000370345.3	-	7	772	c.675A>T	c.(673-675)atA>atT	p.I225I	SEC31B_ENST00000535773.1_Silent_p.I68I|SEC31B_ENST00000451524.1_Silent_p.I225I|NDUFB8_ENST00000531258.1_3'UTR|NDUFB8_ENST00000557395.1_3'UTR|SEC31B_ENST00000370329.5_Silent_p.I228I	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	225					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACTGGGTGGCTATGTCAGGAT	0.557													18	58					0	0	0	0	A	102267289	T	A	102267289	2	1	298	1	0	0	0	0	0	0	0	1	14086	1512	53	5		5	SEC31B	10	102267289	Silent	SNP	T	TCGA-CV-7254-01A-11D-2012-08	4351122	102267289	33267458	158	53480											
TECTB	6975	broad.mit.edu	37	chr10	114053774	114053774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctgttgggccaccccctCggctgacttcatgtatccct	5	11	9	16	1	1	1	1	1	0	0	3	1	2	1	4	2	1	4	4	2	1	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:114053774C>T	ENST00000369422.3	+	6	626	c.626C>T	c.(625-627)tCg>tTg	p.S209L		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	209	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.S209*(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GCCACCCCCTCGGCTGACTTC	0.468													19	44					0	0	0	0	T	114053774	C	T	114053774	3	4	298	1	0	0	0	0	1	0	0	0	15842	893	31	1	648	1	TECTB	10	114053774	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	11786485	114053774	21480973	159	53481											
VAX1	11023	broad.mit.edu	37	chr10	118896129	118896129	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaggccggtccaagtccaGgcccttgggcaggatgatct	7	9	13	12	1	1	1	0	1	1	0	3	2	3	2	4	5	0	1	4	5	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:118896129G>A	ENST00000277905.2	-	2	527	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	VAX1_ENST00000369206.5_Silent_p.L95L	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	95						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TCCAAGTCCAGGCCCTTGGGC	0.657													17	57					0	0	0	0	A	118896129	G	A	118896129	2	1	298	1	0	0	0	0	0	0	0	1	17230	991	35	4		4	VAX1	10	118896129	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	4842355	118896129	16638618	160	53482											
NSMCE4A	54780	broad.mit.edu	37	chr10	123730454	123730454	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctgtagctttgaacttacTagagtttcaacatatcttaa	12	16	6	7	0	3	2	1	1	2	1	3	2	3	2	0	0	4	3	0	0	7	7	rs139294636	byFrequency	TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:123730454T>A	ENST00000538652.1	-	3	661	c.24_splice	c.e3+1	p.L8_splice	NSMCE4A_ENST00000369017.5_Splice_Site_p.L167_splice|NSMCE4A_ENST00000489266.1_5'UTR|NSMCE4A_ENST00000369023.3_Splice_Site_p.L167_splice			Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	167										breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				TTGAACTTACTAGAGTTTCAA	0.358													5	19					0	0	0	0	A	123730454	T	A	123730454	5	1	298	1	0	0	0	0	0	0	1	0	10748	1536	53	5	688	5	NSMCE4A	10	123730454	Splice_Site	SNP	T	TCGA-CV-7254-01A-11D-2012-08	4834325	123730454	11804293	161	53483											
PTDSS2	81490	broad.mit.edu	37	chr11	489914	489914	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagctgggcccgcaggccTggctggtggcggccatcacg	6	5	17	13	3	1	1	1	0	0	1	1	1	1	1	3	6	1	3	3	6	1	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:489914T>C	ENST00000308020.5	+	11	1323	c.1147T>C	c.(1147-1149)Tgg>Cgg	p.W383R		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	383						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CCCGCAGGCCTGGCTGGTGGC	0.692													5	17					0	0	0	0	C	489914	T	C	489914	3	2	298	1	0	0	0	0	1	0	0	0	12816	1580	55	5	1189	5	PTDSS2	11	489914	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08		489914	134516602	162	53484											
HBD	3045	broad.mit.edu	37	chr11	5255583	5255583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataccaacctgcccagggcCtcaccaccaactgcatccac	11	5	6	19	0	1	0	1	0	0	0	2	1	2	0	7	1	5	1	7	1	3	1	rs34289459		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:5255583C>A	ENST00000380299.3	-	1	295	c.81G>T	c.(79-81)gaG>gaT	p.E27D	HBD_ENST00000292901.3_Missense_Mutation_p.E27D	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	27			E -> D (in Puglia; dbSNP:rs34289459).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCCAGGGCCTCACCACCAA	0.517													28	67					3.80469e-20	1.20935e-19	1	0	A	5255583	C	A	5255583	3	1	298	1	0	0	0	0	1	0	0	0	7029	680	24	4	374	4	HBD	11	5255583	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	4765669	5255583	129750933	163	53485											
OR51Q1	390061	broad.mit.edu	37	chr11	5443979	5443979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcgctcctattgcctccaCcaggatatgatccgcctggt	6	12	8	15	2	1	1	0	1	1	0	5	2	4	2	6	2	1	1	6	2	2	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:5443979C>A	ENST00000300778.4	+	1	639	c.549C>A	c.(547-549)caC>caA	p.H183Q	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGCCTCCACCAGGATATGA	0.512													51	168					2.74695e-27	9.01766e-27	1	0	A	5443979	C	A	5443979	3	1	298	1	0	0	0	0	1	0	0	0	11175	506	18	4	551	4	OR51Q1	11	5443979	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	188396	5443979	129562537	164	53486											
OR52B6	340980	broad.mit.edu	37	chr11	5602224	5602224	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcactggcatccctgggCtggagcaactacatatctgg	8	10	10	13	0	2	0	1	0	1	0	4	1	4	1	2	4	3	3	2	4	3	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:5602224C>G	ENST00000345043.2	+	1	118	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCCTGGGCTGGAGCAACT	0.507													7	59					0	0	0	0	G	5602224	C	G	5602224	3	3	298	1	0	0	0	0	1	0	0	0	11184	796	28	4	120	4	OR52B6	11	5602224	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	158245	5602224	129404292	165	53487											
ILK	3611	broad.mit.edu	37	chr11	6629415	6629415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcatctggcagccagtCatggacaccgtgatattgta	9	10	10	12	1	2	1	1	1	1	0	2	2	2	2	3	2	2	3	3	2	2	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:6629415C>A	ENST00000396751.2	+	2	685	c.229C>A	c.(229-231)Cat>Aat	p.H77N	ILK_ENST00000537806.1_Intron|ILK_ENST00000420936.2_Missense_Mutation_p.H77N|ILK_ENST00000299421.4_Missense_Mutation_p.H77N|ILK_ENST00000528995.1_Missense_Mutation_p.H77N	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	77	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GGCAGCCAGTCATGGACACCG	0.527													8	74					2.17888e-05	5.55822e-05	1	0	A	6629415	C	A	6629415	3	1	298	1	0	0	0	0	1	0	0	0	7766	826	29	2	235	2	ILK	11	6629415	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	1027191	6629415	128377101	166	53488											
DCHS1	8642	broad.mit.edu	37	chr11	6662065	6662065	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctcagacaccacagcatgGtagcggctctgattgaaagc	11	8	10	12	1	2	3	1	2	2	1	3	3	2	3	1	2	3	3	1	2	2	2	rs144400127		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:6662065G>A	ENST00000299441.3	-	2	1191	c.780C>T	c.(778-780)taC>taT	p.Y260Y		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	260	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAGCATGGTAGCGGCTCT	0.602													16	113					0	0	0	0	A	6662065	G	A	6662065	2	1	298	1	0	0	0	0	0	0	0	1	4319	1256	44	4		4	DCHS1	11	6662065	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	32650	6662065	128344451	167	53489											
DCHS1	8642	broad.mit.edu	37	chr11	6662629	6662629	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtacatgagaggagctgcCgtgcctgccggaagccccgc	9	5	14	13	3	0	1	0	1	0	1	0	4	0	3	5	2	6	2	5	2	3	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:6662629C>G	ENST00000299441.3	-	2	627	c.216G>C	c.(214-216)acG>acC	p.T72T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	72	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGAGCTGCCGTGCCTGCCG	0.632													9	18					0	0	0	0	G	6662629	C	G	6662629	2	3	298	1	0	0	0	0	0	0	0	1	4319	639	23	3		3	DCHS1	11	6662629	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	564	6662629	128343887	168	53490											
INSC	387755	broad.mit.edu	37	chr11	15262059	15262059	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtgacgccgtgcttgTggcctgcctggtgagttctc	4	11	14	12	2	1	2	0	2	1	0	2	2	1	2	3	2	3	3	3	2	0	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:15262059T>G	ENST00000379554.3	+	12	1647	c.1601T>G	c.(1600-1602)gTg>gGg	p.V534G	INSC_ENST00000530161.1_Missense_Mutation_p.V487G|INSC_ENST00000525218.1_Missense_Mutation_p.V445G|INSC_ENST00000528567.1_Missense_Mutation_p.V487G|INSC_ENST00000424273.1_Missense_Mutation_p.V445G|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.V487G	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	534					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GCCGTGCTTGTGGCCTGCCTG	0.622													3	32					0	0	0	0	G	15262059	T	G	15262059	3	3	298	1	0	0	0	0	1	0	0	0	7817	1696	59	5	1647	5	INSC	11	15262059	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	8599430	15262059	119744457	169	53491											
ABCC8	6833	broad.mit.edu	37	chr11	17428485	17428485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcagggtcagggcgctgtCggtccacttggccagccagt	5	8	16	12	2	2	0	2	0	0	0	4	0	3	0	3	5	1	1	3	5	0	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:17428485C>T	ENST00000302539.4	-	25	3240	c.3115G>A	c.(3115-3117)Gac>Aac	p.D1039N	ABCC8_ENST00000389817.3_Missense_Mutation_p.D1038N	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1038	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGGCGCTGTCGGTCCACTTG	0.652													27	78					0	0	0	0	T	17428485	C	T	17428485	3	4	298	1	0	0	0	0	1	0	0	0	58	884	31	1	1693	1	ABCC8	11	17428485	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	2166426	17428485	117578031	170	53492											
NELL1	4745	broad.mit.edu	37	chr11	21135210	21135210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaccttcctgggttatatcGctgtgactgtgtcccaggat	7	13	10	11	1	0	1	0	1	0	0	3	2	2	2	3	2	1	2	3	2	3	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:21135210G>T	ENST00000298925.5	+	14	1613	c.1460G>T	c.(1459-1461)cGc>cTc	p.R487L	NELL1_ENST00000325319.5_Missense_Mutation_p.R402L|NELL1_ENST00000532434.1_Missense_Mutation_p.R459L|NELL1_ENST00000357134.5_Missense_Mutation_p.R459L			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	459	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGGTTATATCGCTGTGACTGT	0.398													35	82					7.11191e-15	2.19101e-14	1	0	T	21135210	G	T	21135210	3	4	298	1	0	0	0	0	1	0	0	0	10403	1087	38	3	1426	3	NELL1	11	21135210	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	3706725	21135210	113871306	171	53493											
OR4C46	119749	broad.mit.edu	37	chr11	51515649	51515649	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctatgaccactatgtggCcatctgcaagcccttgcact	8	10	9	14	0	1	1	0	1	1	0	1	1	1	1	4	2	3	2	4	2	3	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:51515649C>A	ENST00000328188.1	+	1	368	c.368C>A	c.(367-369)gCc>gAc	p.A123D		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CACTATGTGGCCATCTGCAAG	0.478													33	112					1.62565e-12	4.84068e-12	1	0	A	51515649	C	A	51515649	3	1	298	1	0	0	0	0	1	0	0	0	11122	739	26	4	370	4	OR4C46	11	51515649	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	30380439	51515649	83490867	172	53494											
OR5L2	26338	broad.mit.edu	37	chr11	55595286	55595286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcactgtgaatgagacaCtgctgttcctggtggccact	8	12	11	10	0	1	2	1	2	0	1	2	3	2	2	2	2	1	2	2	2	1	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:55595286C>A	ENST00000378397.1	+	1	592	c.592C>A	c.(592-594)Ctg>Atg	p.L198M		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GAATGAGACACTGCTGTTCCT	0.448										HNSCC(27;0.073)			46	159					4.44401e-20	1.40698e-19	1	0	A	55595286	C	A	55595286	3	1	298	1	0	0	0	0	1	0	0	0	11242	564	20	4	594	4	OR5L2	11	55595286	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	4079637	55595286	79411230	173	53495											
OR5AP2	338675	broad.mit.edu	37	chr11	56409156	56409156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccaaagaatatggtgaCagccatgaggtaagaggcac	14	8	12	7	0	0	4	0	2	0	2	1	4	1	4	2	3	1	3	2	3	4	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:56409156C>A	ENST00000544374.1	-	1	791	c.763G>T	c.(763-765)Gtc>Ttc	p.V255F	OR5AP2_ENST00000302981.1_Missense_Mutation_p.V254F			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AATATGGTGACAGCCATGAGG	0.458													18	67					6.94344e-10	2.00783e-09	1	0	A	56409156	C	A	56409156	3	1	298	1	0	0	0	0	1	0	0	0	11215	478	17	4	194	4	OR5AP2	11	56409156	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	813870	56409156	78597360	174	53496											
PRG2	5553	broad.mit.edu	37	chr11	57155327	57155327	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcaacccactgaaagcgTctgcagcgaccctggagaaa	12	5	10	14	3	2	2	1	1	1	1	2	4	2	2	3	1	4	1	3	1	3	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:57155327T>C	ENST00000311862.5	-	5	583	c.510A>G	c.(508-510)agA>agG	p.R170R	PRG2_ENST00000525955.1_Silent_p.R170R|PRG2_ENST00000533605.1_Silent_p.R159R	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)		ACTGAAAGCGTCTGCAGCGAC	0.627													7	13					0	0	0	0	C	57155327	T	C	57155327	2	2	298	1	0	0	0	0	0	0	0	1	12559	1664	58	5		5	PRG2	11	57155327	Silent	SNP	T	TCGA-CV-7254-01A-11D-2012-08	746171	57155327	77851189	175	53497											
OR4D10	390197	broad.mit.edu	37	chr11	59245073	59245073	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaatctcgccttcacacGcccatgtattttttgctcca	7	15	6	13	2	2	1	1	1	1	0	4	1	3	1	3	0	1	2	3	0	2	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:59245073G>T	ENST00000530162.1	+	1	228	c.171G>T	c.(169-171)acG>acT	p.T57T		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTCACACGCCCATGTATT	0.433													38	157					2.19358e-23	7.11359e-23	1	0	T	59245073	G	T	59245073	2	4	298	1	0	0	0	0	0	0	0	1	11125	1074	38	3		3	OR4D10	11	59245073	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	2089746	59245073	75761443	176	53498											
USP35	57558	broad.mit.edu	37	chr11	77920009	77920009	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagtacctgctggatcGgtaagggggccagggctacg	8	8	16	9	2	1	1	0	1	1	0	2	2	1	2	2	5	3	4	2	5	4	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:77920009G>T	ENST00000529308.1	+	9	1853	c.1592_splice	c.e9+1	p.R531_splice	USP35_ENST00000441408.2_Splice_Site_p.R117_splice|USP35_ENST00000526425.1_Splice_Site_p.R262_splice|USP35_ENST00000530267.1_Splice_Site_p.R99_splice|USP35_ENST00000530535.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	531					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTGCTGGATCGGTAAGGGGGC	0.602													9	77					1.12685e-05	2.89297e-05	1	0	T	77920009	G	T	77920009	5	4	298	1	0	0	0	0	0	0	1	0	17162	1130	39	3	1622	3	USP35	11	77920009	Splice_Site	SNP	G	TCGA-CV-7254-01A-11D-2012-08	18674936	77920009	57086507	177	53499											
PRCP	5547	broad.mit.edu	37	chr11	82571102	82571102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcttccagtatttatCagctactaggtaccgctgat	9	17	6	9	1	2	1	1	1	1	0	3	1	3	1	2	1	3	4	2	1	5	9			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:82571102C>A	ENST00000313010.3	-	2	420	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	PRCP_ENST00000393399.2_Missense_Mutation_p.D97Y|PRCP_ENST00000535099.1_Intron	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	76					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CAGTATTTATCAGCTACTAGG	0.323													5	35					0.000602214	0.00144857	1	0	A	82571102	C	A	82571102	3	1	298	1	0	0	0	0	1	0	0	0	12529	826	29	2	1296	2	PRCP	11	82571102	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	4651093	82571102	52435414	178	53500											
FAT3	120114	broad.mit.edu	37	chr11	92088407	92088407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacctccacactccctatttCccagactttgctgttgttgg	7	14	6	14	0	0	1	0	0	0	1	3	1	3	1	4	1	2	3	4	1	2	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:92088407C>A	ENST00000298047.6	+	1	3146	c.3129C>A	c.(3127-3129)ttC>ttA	p.F1043L	FAT3_ENST00000525166.1_Missense_Mutation_p.F893L|FAT3_ENST00000541502.1_Missense_Mutation_p.F1043L|FAT3_ENST00000409404.2_Missense_Mutation_p.F1043L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1043	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCCCTATTTCCCAGACTTTG	0.507										TCGA Ovarian(4;0.039)			11	48					2.61681e-11	7.73457e-11	1	0	A	92088407	C	A	92088407	3	1	298	1	0	0	0	0	1	0	0	0	5736	854	30	2	3131	2	FAT3	11	92088407	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	9517305	92088407	42918109	179	53501											
MMP20	9313	broad.mit.edu	37	chr11	102477389	102477389	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagagtgggcttccccAggaatactttccgaggtcct	7	9	14	11	1	0	1	0	0	0	1	3	3	3	2	4	5	1	2	4	5	2	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:102477389A>G	ENST00000260228.2	-	6	842	c.830T>C	c.(829-831)cTg>cCg	p.L277P	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	277					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GGGCTTCCCCAGGAATACTTT	0.532													16	64					0	0	0	0	G	102477389	A	G	102477389	3	3	298	1	0	0	0	0	1	0	0	0	9728	188	7	5	641	5	MMP20	11	102477389	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	10388982	102477389	32529127	180	53502											
SIK2	23235	broad.mit.edu	37	chr11	111593425	111593425	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaggcccagaacacctgtCagctttattgcaaagaacca	15	7	7	12	0	1	2	1	0	0	2	1	2	1	2	3	1	4	2	3	1	5	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:111593425C>T	ENST00000304987.3	+	14	2265	c.2092C>T	c.(2092-2094)Cag>Tag	p.Q698*		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	698					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GAACACCTGTCAGCTTTATTG	0.502													26	71					0	0	0	0	T	111593425	C	T	111593425	4	4	298	1	0	0	0	0	0	1	0	0	14406	827	29	2	2146	2	SIK2	11	111593425	Nonsense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	9116036	111593425	23413091	181	53503											
OR8D1	283159	broad.mit.edu	37	chr11	124180027	124180027	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcataggagacagcaacagcTagggtgggcaccaaggtgtt	12	6	15	8	0	0	1	0	0	0	1	0	2	0	1	1	4	3	5	1	4	4	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:124180027T>C	ENST00000357821.2	-	1	706	c.636A>G	c.(634-636)ctA>ctG	p.L212L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CAGCAACAGCTAGGGTGGGCA	0.507													11	27					0	0	0	0	C	124180027	T	C	124180027	2	2	298	1	0	0	0	0	0	0	0	1	11302	1509	53	5		5	OR8D1	11	124180027	Silent	SNP	T	TCGA-CV-7254-01A-11D-2012-08	12586602	124180027	10826489	182	53504											
ESAM	90952	broad.mit.edu	37	chr11	124632034	124632034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaagttggtcaccaggggcCccgggagggaaatcatggcc	9	5	16	11	1	2	0	2	0	0	0	2	2	2	2	4	6	0	2	4	6	2	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:124632034C>A	ENST00000278927.5	-	1	146	c.17G>T	c.(16-18)gGg>gTg	p.G6V	RP11-677M14.3_ENST00000504932.2_RNA|ESAM_ENST00000442070.2_Missense_Mutation_p.G6V	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	6					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CACCAGGGGCCCCGGGAGGGA	0.697													5	19					3.59834e-05	9.09233e-05	1	0	A	124632034	C	A	124632034	3	1	298	1	0	0	0	0	1	0	0	0	5285	623	22	4	1183	4	ESAM	11	124632034	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	452007	124632034	10374482	183	53505											
NTM	50863	broad.mit.edu	37	chr11	132016211	132016211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtcacccgggtggcctGgctaaaccgcagcaccatcc	7	5	12	17	3	1	0	1	0	0	0	2	0	2	0	6	4	2	3	6	4	2	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:132016211G>T	ENST00000374786.1	+	2	682	c.203G>T	c.(202-204)tGg>tTg	p.W68L	NTM_ENST00000427481.2_Missense_Mutation_p.W59L|NTM_ENST00000374791.3_Missense_Mutation_p.W68L|NTM_ENST00000539799.1_Missense_Mutation_p.W68L|NTM_ENST00000425719.2_Missense_Mutation_p.W68L|NTM_ENST00000374784.1_Missense_Mutation_p.W68L	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	68	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.W68L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CGGGTGGCCTGGCTAAACCGC	0.577													13	40					7.93312e-07	2.11814e-06	1	0	T	132016211	G	T	132016211	3	4	298	1	0	0	0	0	1	0	0	0	10770	1357	47	4	295	4	NTM	11	132016211	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	7384177	132016211	2990305	184	53506											
LRP6	4040	broad.mit.edu	37	chr12	12334103	12334103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgtctgtccaataaagaTttcgtgcaacccagtccaca	12	10	7	12	1	1	1	0	0	1	1	4	1	3	1	3	0	2	1	3	0	4	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:12334103T>C	ENST00000261349.4	-	6	1323	c.1247A>G	c.(1246-1248)aAt>aGt	p.N416S	LRP6_ENST00000543091.1_Missense_Mutation_p.N416S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	416	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCAATAAAGATTTCGTGCAAC	0.478													13	130					0	0	0	0	C	12334103	T	C	12334103	3	2	298	1	0	0	0	0	1	0	0	0	9026	1493	52	5	3666	5	LRP6	12	12334103	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08		12334103	121517792	185	53507											
GRIN2B	2904	broad.mit.edu	37	chr12	14018732	14018732	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgcagcccctttttacCttatctgccattatcataga	8	15	4	14	0	2	1	1	0	1	1	3	1	3	1	5	0	4	1	5	0	4	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:14018732C>T	ENST00000279593.3	-	2	620	c.411_splice	c.e2+1	p.K137_splice		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	137					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCTTTTTACCTTATCTGCCA	0.493													123	142					0	0	0	0	T	14018732	C	T	14018732	5	4	298	1	0	0	0	0	0	0	1	0	6830	695	24	4	4091	4	GRIN2B	12	14018732	Splice_Site	SNP	C	TCGA-CV-7254-01A-11D-2012-08	1684629	14018732	119833163	186	53508											
H3F3C	440093	broad.mit.edu	37	chr12	31944920	31944920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagggcagcttccggatgaGcagctcggtcgacttctgat	8	9	14	10	3	1	2	0	2	1	0	4	5	2	3	1	3	3	4	1	3	1	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:31944920G>A	ENST00000340398.3	-	1	255	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	61					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TTCCGGATGAGCAGCTCGGTC	0.602										HNSCC(67;0.2)			32	52					0	0	0	0	A	31944920	G	A	31944920	3	1	298	1	0	0	0	0	1	0	0	0	6985	971	34	4	230	4	H3F3C	12	31944920	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	17926188	31944920	101906975	187	53509											
TROAP	10024	broad.mit.edu	37	chr12	49722998	49722998	+	Frame_Shift_Del	DEL	C	C	-																															aacctaaaacccggttcacaCccatgccatcaacccccaga																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:49722998delC	ENST00000551245.1	+	10	1186	c.1075delC	c.(1075-1077)ccfs	p.P359fs	TROAP_ENST00000547923.1_Frame_Shift_Del_p.P67fs|TROAP_ENST00000257909.3_Frame_Shift_Del_p.P359fs			Q12815	TROAP_HUMAN	trophinin associated protein	359					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCGGTTCACACCCATGCCATC	0.547													40	227	---	---	---	---					-	49722998	C	-	49722998	7	5	298	1	0	1	0	1	0	0	0	0	16670	507	18	0	1211	0	TROAP	12	49722998	Frame_Shift_Del	DEL	C	TCGA-CV-7254-01A-11D-2012-08	17778078	49722998	84128897	188	53510											
KRT73	319101	broad.mit.edu	37	chr12	53011886	53011886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgaaggaggcgaacttGttgttcagcaccttgatctg	10	12	11	8	1	3	2	2	2	1	0	3	4	3	3	1	2	2	3	1	2	3	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:53011886G>C	ENST00000305748.3	-	1	457	c.423C>G	c.(421-423)aaC>aaG	p.N141K		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	141	Coil 1A.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGCGAACTTGTTGTTCAGCA	0.547													33	96					0	0	0	0	C	53011886	G	C	53011886	3	2	298	1	0	0	0	0	1	0	0	0	8538	1368	48	4	1235	4	KRT73	12	53011886	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	3288888	53011886	80840009	189	53511											
OSBPL8	114882	broad.mit.edu	37	chr12	76791671	76791671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagctctttagagtacCacgaatctacagaaagataa	15	9	8	9	1	2	3	0	0	2	3	3	4	3	3	2	1	3	2	2	1	6	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:76791671C>T	ENST00000261183.3	-	8	954	c.475G>A	c.(475-477)Ggt>Agt	p.G159S	OSBPL8_ENST00000393249.2_Missense_Mutation_p.G117S|OSBPL8_ENST00000393250.4_Missense_Mutation_p.G117S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	159	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTTAGAGTACCACGAATCTAC	0.358													9	30					0	0	0	0	T	76791671	C	T	76791671	3	4	298	1	0	0	0	0	1	0	0	0	11354	594	21	4	2262	4	OSBPL8	12	76791671	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	23779785	76791671	57060224	190	53512											
PPFIA2	8499	broad.mit.edu	37	chr12	81719651	81719651	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtctccataaagcctccTgtgaagagaagtaactaagt	14	10	8	9	0	2	2	1	1	1	1	4	3	3	2	3	0	2	1	3	0	6	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:81719651T>A	ENST00000550584.2	-	21	2844		c.e21-2		PPFIA2_ENST00000333447.7_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2											NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TAAAGCCTCCTGTGAAGAGAA	0.423													3	25					0	0	0	0	A	81719651	T	A	81719651	5	1	298	1	0	0	0	0	0	0	1	0	12381	1594	55	5	1270	5	PPFIA2	12	81719651	Splice_Site	SNP	T	TCGA-CV-7254-01A-11D-2012-08	4927980	81719651	52132244	191	53513											
TMTC2	160335	broad.mit.edu	37	chr12	83290168	83290168	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataccctttgttcctgccaCgaacctgtttttctatgtcg	6	16	6	13	2	1	0	0	0	1	0	3	1	2	0	4	0	3	2	4	0	3	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:83290168C>G	ENST00000549919.1	+	4	3013	c.1208C>G	c.(1207-1209)aCg>aGg	p.T403R	TMTC2_ENST00000548305.1_Missense_Mutation_p.T409R|TMTC2_ENST00000321196.3_Missense_Mutation_p.T409R			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	409						endoplasmic reticulum|integral to membrane	binding	p.T409R(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GTTCCTGCCACGAACCTGTTT	0.418													18	109					0	0	0	0	G	83290168	C	G	83290168	3	3	298	1	0	0	0	0	1	0	0	0	16355	536	19	3	1236	3	TMTC2	12	83290168	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	1570517	83290168	50561727	192	53514											
KERA	11081	broad.mit.edu	37	chr12	91449952	91449952	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactcgaagtcatgaataGtccaatcatctgaatcatgt	14	11	7	9	1	4	2	3	2	1	0	6	4	5	2	1	0	0	0	1	0	5	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:91449952G>C	ENST00000266719.3	-	2	354	c.107C>G	c.(106-108)aCt>aGt	p.T36S		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	36	LRRNT.				response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTCATGAATAGTCCAATCATC	0.408													5	40					0	0	0	0	C	91449952	G	C	91449952	3	2	298	1	0	0	0	0	1	0	0	0	8195	1029	36	4	959	4	KERA	12	91449952	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	8159784	91449952	42401943	193	53515											
ACTR6	64431	broad.mit.edu	37	chr12	100603865	100603865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatagctggggctctcagtGcacataggtatttccgagat	11	11	11	8	1	1	1	1	0	1	1	3	2	2	1	1	3	2	4	1	3	4	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:100603865G>T	ENST00000188312.2	+	5	1159	c.394G>T	c.(394-396)Gca>Tca	p.A132S	ACTR6_ENST00000551617.1_Missense_Mutation_p.A50S|ACTR6_ENST00000546902.1_Missense_Mutation_p.A50S|ACTR6_ENST00000552376.1_Missense_Mutation_p.A132S	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	132						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						GGCTCTCAGTGCACATAGGTA	0.308													8	56					5.18039e-06	1.35163e-05	1	0	T	100603865	G	T	100603865	3	4	298	1	0	0	0	0	1	0	0	0	216	1319	46	4	412	4	ACTR6	12	100603865	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	9153913	100603865	33248030	194	53516											
ALDH1L2	160428	broad.mit.edu	37	chr12	105428104	105428104	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacaaattcgtcgtggaTggattcttccacgaacaacc	11	11	8	11	3	2	0	1	0	1	0	5	3	3	2	2	2	2	0	2	2	3	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:105428104T>A	ENST00000258494.9	-	19	2358	c.2218A>T	c.(2218-2220)Atc>Ttc	p.I740F	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	740	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TCGTCGTGGATGGATTCTTCC	0.418													6	42					0	0	0	0	A	105428104	T	A	105428104	3	1	298	1	0	0	0	0	1	0	0	0	495	1464	51	5	573	5	ALDH1L2	12	105428104	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	4824239	105428104	28423791	195	53517											
RIC8B	55188	broad.mit.edu	37	chr12	107254088	107254088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggctatgggaatgctgcagGactgttggcggccaggggcc	6	8	18	9	1	0	0	0	0	0	0	0	2	0	2	2	7	2	4	2	7	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:107254088G>T	ENST00000392837.4	+	8	1500	c.1349G>T	c.(1348-1350)gGa>gTa	p.G450V	RIC8B_ENST00000355478.2_Missense_Mutation_p.G410V|RIC8B_ENST00000549643.1_5'UTR|RIC8B_ENST00000392839.2_Missense_Mutation_p.G450V			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	450					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						AATGCTGCAGGACTGTTGGCG	0.463													12	41					7.03913e-09	1.96458e-08	1	0	T	107254088	G	T	107254088	3	4	298	1	0	0	0	0	1	0	0	0	13439	1174	41	2	1379	2	RIC8B	12	107254088	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	1825984	107254088	26597807	196	53518											
RPH3A	22895	broad.mit.edu	37	chr12	113314582	113314582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctattcccaagcatctgCagctgccccccagcctgctg	7	8	7	19	0	1	0	0	0	1	0	2	0	2	0	6	0	6	4	6	0	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:113314582C>A	ENST00000389385.4	+	13	1579	c.1082C>A	c.(1081-1083)gCa>gAa	p.A361E	RPH3A_ENST00000543106.2_Missense_Mutation_p.A361E|RPH3A_ENST00000447659.2_Missense_Mutation_p.A312E|RPH3A_ENST00000415485.3_Missense_Mutation_p.A361E|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.A357E|RPH3A_ENST00000548866.1_Missense_Mutation_p.A312E|RPH3A_ENST00000420983.2_Missense_Mutation_p.A361E	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	361	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAAGCATCTGCAGCTGCCCCC	0.642													8	49					0.000274275	0.000671848	1	0	A	113314582	C	A	113314582	3	1	298	1	0	0	0	0	1	0	0	0	13636	710	25	4	1124	4	RPH3A	12	113314582	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	6060494	113314582	20537313	197	53519											
IQCD	115811	broad.mit.edu	37	chr12	113645284	113645284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctccgccaattccttttCaagagtatcaatgatttgtt	9	17	5	10	1	3	2	2	1	1	1	6	2	5	2	3	0	0	2	3	0	4	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:113645284C>T	ENST00000546692.1	-	2	1061	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	IQCD_ENST00000416617.2_Missense_Mutation_p.E230K|IQCD_ENST00000299732.2_Missense_Mutation_p.E230K			Q96DY2	IQCD_HUMAN	IQ motif containing D	230										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AATTCCTTTTCAAGAGTATCA	0.383													5	56					0	0	0	0	T	113645284	C	T	113645284	3	4	298	1	0	0	0	0	1	0	0	0	7858	835	29	2	363	2	IQCD	12	113645284	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	330702	113645284	20206611	198	53520											
TMEM132B	114795	broad.mit.edu	37	chr12	126135284	126135284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagggacgaggctgcTccctgcagtaccagcacgcc	11	4	13	13	2	0	2	0	0	0	2	1	4	1	3	3	2	4	5	3	2	3	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:126135284T>C	ENST00000299308.3	+	7	1692	c.1684T>C	c.(1684-1686)Tcc>Ccc	p.S562P	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S74P	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	562						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACGAGGCTGCTCCCTGCAGTA	0.572													11	42					0	0	0	0	C	126135284	T	C	126135284	3	2	298	1	0	0	0	0	1	0	0	0	16140	1551	54	5	1710	5	TMEM132B	12	126135284	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	12490000	126135284	7716611	199	53521											
PIWIL1	9271	broad.mit.edu	37	chr12	130827590	130827590	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccaccagcagagggggAattatttggccgtggacggc	8	6	16	11	3	0	1	0	0	0	1	0	3	0	3	4	5	1	1	4	5	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:130827590A>T	ENST00000245255.3	+	3	406	c.134A>T	c.(133-135)gAa>gTa	p.E45V		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	45					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCAGAGGGGGAATTATTTGGC	0.473													6	31					0	0	0	0	T	130827590	A	T	130827590	3	4	298	1	0	0	0	0	1	0	0	0	12029	246	9	5	140	5	PIWIL1	12	130827590	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	4692306	130827590	3024305	200	53522											
FRY	10129	broad.mit.edu	37	chr13	32812117	32812117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatggtggatgcatcccacGctattggtaaagccagcctc	9	9	10	13	1	0	0	0	0	0	0	2	1	1	1	4	3	3	3	4	3	3	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:32812117G>T	ENST00000380250.3	+	44	6908	c.6412G>T	c.(6412-6414)Gct>Tct	p.A2138S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCATCCCACGCTATTGGTAA	0.458													16	74					6.94344e-10	2.00783e-09	1	0	T	32812117	G	T	32812117	3	4	298	1	0	0	0	0	1	0	0	0	6111	1087	38	3	6586	3	FRY	13	32812117	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08		32812117	82357761	201	53523											
STARD13	90627	broad.mit.edu	37	chr13	33701605	33701605	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggctcagctggctggcCgtctggctgctgatgtgggg	4	9	18	10	1	2	1	1	1	1	0	2	1	2	1	1	6	3	6	1	6	0	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:33701605C>G	ENST00000336934.5	-	6	1943	c.1827G>C	c.(1825-1827)acG>acC	p.T609T	STARD13_ENST00000255486.4_Silent_p.T601T|STARD13_ENST00000399365.3_Silent_p.T491T	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	609					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCTGGCTGGCCGTCTGGCTGC	0.632													8	8					0	0	0	0	G	33701605	C	G	33701605	2	3	298	1	0	0	0	0	0	0	0	1	15346	639	23	3		3	STARD13	13	33701605	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	889488	33701605	81468273	202	53524											
FREM2	341640	broad.mit.edu	37	chr13	39343779	39343793	+	In_Frame_Del	DEL	AGTGCAGTTCAACCC	AGTGCAGTTCAACCC	-																															aagggcaaagcacagaaacaAgtgcagttcaacccaggcca																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:39343779_39343793delAGTGCAGTTCAACCC	ENST00000280481.7	+	4	5691_5705	c.5475_5489delAGTGCAGTTCAACCC	c.(5473-5490)caa>ca	p.QVQFNP1825del		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1825	Calx-beta 1.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACAGAAACAAGTGCAGTTCAACCCAGGCCAGACC	0.479													8	46	---	---	---	---					-	39343793	AGTGCAGTTCAACCC	-	39343779	7	5	298	1	0	1	0	1	0	0	0	0	6093	69	3	0	5489	0	FREM2	13	39343779	In_Frame_Del	DEL	AGTGCAGTTCAACCC	TCGA-CV-7254-01A-11D-2012-08	5642174	39343779	75826099	203	53525											
FREM2	341640	broad.mit.edu	37	chr13	39435695	39435695	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgtcacaatgccacacatAgatggtaggtgacttgggta	12	10	11	8	0	1	2	1	1	0	1	1	2	1	2	1	3	1	2	1	3	4	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:39435695A>T	ENST00000280481.7	+	15	7863	c.7647A>T	c.(7645-7647)atA>atT	p.I2549I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2549					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCCACACATAGATGGTAGGT	0.423													21	67					0	0	0	0	T	39435695	A	T	39435695	2	4	298	1	0	0	0	0	0	0	0	1	6093	410	15	5		5	FREM2	13	39435695	Silent	SNP	A	TCGA-CV-7254-01A-11D-2012-08	91916	39435695	75734183	204	53526											
LCP1	3936	broad.mit.edu	37	chr13	46726918	46726918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggacttgctcttaccttCatttctgctgagttcaatgt	6	18	8	9	0	4	1	2	1	2	0	4	2	4	2	1	1	3	3	1	1	2	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:46726918C>T	ENST00000398576.2	-	10	1124	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	LCP1_ENST00000323076.2_Missense_Mutation_p.E246K			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	246	Actin-binding 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CTCTTACCTTCATTTCTGCTG	0.458			T	BCL6	NHL								9	34					0	0	0	0	T	46726918	C	T	46726918	3	4	298	1	0	0	0	0	1	0	0	0	8744	835	29	2	1187	2	LCP1	13	46726918	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	7291223	46726918	68442960	205	53527											
OR4N2	390429	broad.mit.edu	37	chr14	20295661	20295661	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcatcctccttggtctgacCcagtctcaagatattcagct	8	14	6	13	0	4	2	3	1	2	1	7	2	6	2	3	1	1	1	3	1	2	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:20295661C>A	ENST00000315947.1	+	1	54	c.54C>A	c.(52-54)acC>acA	p.T18T	OR4N2_ENST00000568211.1_Silent_p.T18T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T18T(2)		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)		TTGGTCTGACCCAGTCTCAAG	0.383													20	136					8.34094e-07	2.21963e-06	1	0	A	20295661	C	A	20295661	2	1	298	1	0	0	0	0	0	0	0	1	11148	610	22	4		4	OR4N2	14	20295661	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08		20295661	87053879	206	53528											
SLC7A8	23428	broad.mit.edu	37	chr14	23609700	23609700	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagggatcaacaagctcCtcagtcacgtaattcagaaa	14	10	8	9	1	4	1	4	0	0	1	5	2	5	2	1	1	2	3	1	1	5	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:23609700C>T	ENST00000316902.7	-	5	1493	c.768G>A	c.(766-768)gaG>gaA	p.E256E	SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000453702.1_Silent_p.E53E|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000469263.1_Silent_p.E256E|SLC7A8_ENST00000529705.2_Silent_p.E151E	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	256					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CAACAAGCTCCTCAGTCACGT	0.532													22	146					0	0	0	0	T	23609700	C	T	23609700	2	4	298	1	0	0	0	0	0	0	0	1	14792	680	24	4		4	SLC7A8	14	23609700	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	3314039	23609700	83739840	207	53529											
DHRS2	10202	broad.mit.edu	37	chr14	24108495	24108495	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggccaagctgcagggggAggggctgagtgtggcgggca	7	5	21	8	1	0	1	0	1	0	0	0	2	0	2	1	7	2	4	1	7	1	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:24108495A>G	ENST00000250383.6	+	3	724	c.248A>G	c.(247-249)gAg>gGg	p.E83G	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.E83G	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	61					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGCAGGGGGAGGGGCTGAGT	0.687													3	90					0	0	0	0	G	24108495	A	G	24108495	3	3	298	1	0	0	0	0	1	0	0	0	4527	304	11	5	254	5	DHRS2	14	24108495	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	498795	24108495	83241045	208	53530											
PRKD1	5587	broad.mit.edu	37	chr14	30103722	30103722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgcactaccctcatgaGtgggatattgttgcttgttg	8	14	11	8	0	1	2	1	1	0	1	1	3	1	3	1	1	3	4	1	1	2	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:30103722G>T	ENST00000331968.5	-	8	1445	c.1216C>A	c.(1216-1218)Ctc>Atc	p.L406I	PRKD1_ENST00000415220.2_Missense_Mutation_p.L414I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	406					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACCCTCATGAGTGGGATATTG	0.403													25	140					6.32553e-13	1.89766e-12	1	0	T	30103722	G	T	30103722	3	4	298	1	0	0	0	0	1	0	0	0	12598	1029	36	4	1566	4	PRKD1	14	30103722	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	5995227	30103722	77245818	209	53531											
INSM2	84684	broad.mit.edu	37	chr14	36003680	36003680	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcggcccgggaacagtcgggGtcgccatgtcgggcggctgg	4	5	20	12	6	0	0	0	0	0	0	3	1	0	1	2	7	1	1	2	7	1	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:36003680G>T	ENST00000307169.3	+	1	433	c.222G>T	c.(220-222)ggG>ggT	p.G74G		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		AACAGTCGGGGTCGCCATGTC	0.781													9	4					0.000442599	0.00107431	1	0	T	36003680	G	T	36003680	2	4	298	1	0	0	0	0	0	0	0	1	7825	1248	44	4		4	INSM2	14	36003680	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	5899958	36003680	71345860	210	53532											
SLC25A21	89874	broad.mit.edu	37	chr14	37283178	37283178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagcttttataactgtttgGatcggttgcacatctctgaa	10	15	8	8	1	1	1	0	1	1	0	3	2	1	2	0	2	3	4	0	2	4	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:37283178G>T	ENST00000331299.5	-	3	663	c.148C>A	c.(148-150)Cca>Aca	p.P50T	RP11-81F13.2_ENST00000557642.1_RNA|SLC25A21_ENST00000555449.1_Missense_Mutation_p.P50T	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	50					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TAACTGTTTGGATCGGTTGCA	0.313													8	58					0.000274275	0.000671848	1	0	T	37283178	G	T	37283178	3	4	298	1	0	0	0	0	1	0	0	0	14572	1174	41	2	788	2	SLC25A21	14	37283178	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	1279498	37283178	70066362	211	53533											
C14orf142	84520	broad.mit.edu	37	chr14	93673339	93673339	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggacacccgcagcttcTgcggcttcccttcctgcccg	5	8	9	19	3	1	0	0	0	1	0	3	1	3	1	4	2	3	3	4	2	0	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:93673339T>A	ENST00000306954.4	-	1	100	c.44A>T	c.(43-45)cAg>cTg	p.Q15L	RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron	NM_032490.4	NP_115879.2	Q9BXV9	CN142_HUMAN	chromosome 14 open reading frame 142	15										endometrium(1)|skin(1)	2		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203)		CCGCAGCTTCTGCGGCTTCCC	0.622											OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	61					0	0	0	0	A	93673339	T	A	93673339	3	1	298	1	0	0	0	0	1	0	0	0	1759	1580	55	5	266	5	C14orf142	14	93673339	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	56390161	93673339	13676201	212	53534											
AK7	122481	broad.mit.edu	37	chr14	96937852	96937852	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatataattagatttatgaaAgaaaagctaaaatcaatgcc	20	12	5	4	0	1	3	1	1	0	2	1	3	1	3	1	0	2	1	1	0	11	7			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:96937852A>G	ENST00000267584.4	+	13	1439	c.1395A>G	c.(1393-1395)aaA>aaG	p.K465K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	465	Adenylate kinase.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GATTTATGAAAGAAAAGCTAA	0.294													4	32					0	0	0	0	G	96937852	A	G	96937852	2	3	298	1	0	0	0	0	0	0	0	1	444	69	3	5		5	AK7	14	96937852	Silent	SNP	A	TCGA-CV-7254-01A-11D-2012-08	3264513	96937852	10411688	213	53535											
RYR3	6263	broad.mit.edu	37	chr15	33944987	33944987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttcccagagatcaaatcGgagcaacgtggacctggaga	13	6	12	10	2	1	2	1	0	0	2	3	6	2	4	2	3	2	2	2	3	2	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:33944987G>A	ENST00000389232.4	+	32	4281	c.4211G>A	c.(4210-4212)cGg>cAg	p.R1404Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R1404Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1404	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGATCAAATCGGAGCAACGTG	0.537													11	50					0	0	0	0	A	33944987	G	A	33944987	3	1	298	1	0	0	0	0	1	0	0	0	13855	1116	39	1	4337	1	RYR3	15	33944987	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08		33944987	68586405	214	53536											
UNC13C	440279	broad.mit.edu	37	chr15	54306702	54306702	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgcagatgcaacacctctCtggcactcacagagtgattt	11	11	8	11	0	2	3	1	1	1	2	3	3	2	3	1	1	3	3	1	1	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:54306702C>T	ENST00000545554.1	+	1	1602	c.1602C>T	c.(1600-1602)ctC>ctT	p.L534L	UNC13C_ENST00000260323.11_Silent_p.L534L|UNC13C_ENST00000537900.1_Silent_p.L534L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	534					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAACACCTCTCTGGCACTCAC	0.358													7	61					0	0	0	0	T	54306702	C	T	54306702	2	4	298	1	0	0	0	0	0	0	0	1	17082	900	32	2		2	UNC13C	15	54306702	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	20361715	54306702	48224690	215	53537											
PYGO1	26108	broad.mit.edu	37	chr15	55838897	55838897	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgccaaatcggggttagaaActtggctagcattctgtgga	11	11	12	7	1	1	1	0	0	1	1	2	2	1	2	1	4	3	3	1	4	4	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:55838897A>T	ENST00000302000.6	-	3	678	c.584T>A	c.(583-585)gTt>gAt	p.V195D	PYGO1_ENST00000563719.1_Missense_Mutation_p.V195D	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	195	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GGGGTTAGAAACTTGGCTAGC	0.348													23	48					0	0	0	0	T	55838897	A	T	55838897	3	4	298	1	0	0	0	0	1	0	0	0	12945	43	2	5	679	5	PYGO1	15	55838897	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	1532195	55838897	46692495	216	53538											
LIPC	3990	broad.mit.edu	37	chr15	58724316	58724316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccttggacaaagcctgaaaCcaggtaagagcctgactttt	12	9	9	11	0	0	3	0	2	0	1	0	4	0	4	4	2	3	1	4	2	3	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:58724316C>G	ENST00000414170.3	+	2	372	c.85C>G	c.(85-87)Cca>Gca	p.P29A	LIPC_ENST00000356113.6_Missense_Mutation_p.P29A|LIPC_ENST00000433326.2_Missense_Mutation_p.P29A|LIPC_ENST00000299022.5_Missense_Mutation_p.P29A			P11150	LIPC_HUMAN	lipase, hepatic	29					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AAGCCTGAAACCAGGTAAGAG	0.448													16	76					0	0	0	0	G	58724316	C	G	58724316	3	3	298	1	0	0	0	0	1	0	0	0	8875	507	18	4	87	4	LIPC	15	58724316	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	2885419	58724316	43807076	217	53539											
CILP	8483	broad.mit.edu	37	chr15	65491007	65491007	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagcctgtccacaaatgtGagcaccagcctctcagtgtc	9	9	9	14	0	1	1	1	1	1	0	4	1	2	1	4	0	4	2	4	0	1	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:65491007G>C	ENST00000261883.4	-	9	1783	c.1617C>G	c.(1615-1617)ctC>ctG	p.L539L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	539					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCACAAATGTGAGCACCAGCC	0.522													14	65					0	0	0	0	C	65491007	G	C	65491007	2	2	298	1	0	0	0	0	0	0	0	1	3458	1277	45	2		2	CILP	15	65491007	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	6766691	65491007	37040385	218	53540											
CYP11A1	1583	broad.mit.edu	37	chr15	74636273	74636273	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaatgaatcgctgggccTcggggttcactacttcctcc	7	11	9	14	2	2	1	2	1	0	0	6	1	4	1	3	3	1	2	3	3	3	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:74636273T>C	ENST00000358632.4	-	4	907	c.212A>G	c.(211-213)gAg>gGg	p.E71G	CYP11A1_ENST00000268053.6_Missense_Mutation_p.E229G|CYP11A1_ENST00000419019.2_Missense_Mutation_p.E71G|CYP11A1_ENST00000541301.1_3'UTR	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	229					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TCGCTGGGCCTCGGGGTTCAC	0.572													3	138					0	0	0	0	C	74636273	T	C	74636273	3	2	298	1	0	0	0	0	1	0	0	0	4176	1551	54	5	903	5	CYP11A1	15	74636273	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	9145266	74636273	27895119	219	53541											
RASGRF1	5923	broad.mit.edu	37	chr15	79382664	79382664	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagccccgagggccgcgaGctcgagtcgctctcgaagta	9	6	13	13	6	1	0	0	0	1	0	4	4	1	0	3	1	2	3	3	1	4	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:79382664G>A	ENST00000419573.3	-	1	451	c.177C>T	c.(175-177)agC>agT	p.S59S	RASGRF1_ENST00000558480.2_Silent_p.S59S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	59	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGGGCCGCGAGCTCGAGTCGC	0.637													8	102					0	0	0	0	A	79382664	G	A	79382664	2	1	298	1	0	0	0	0	0	0	0	1	13154	962	34	4		4	RASGRF1	15	79382664	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	4746391	79382664	23148728	220	53542											
AGBL1	123624	broad.mit.edu	37	chr15	86940669	86940669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccagttgggtgatgaaggGtaccttggagttcctggtca	7	12	15	7	0	1	2	1	2	0	0	2	3	2	3	3	4	2	3	3	4	2	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:86940669G>T	ENST00000441037.2	+	17	2404	c.2309G>T	c.(2308-2310)gGt>gTt	p.G770V	AGBL1_ENST00000389298.3_Missense_Mutation_p.G501V|AGBL1_ENST00000421325.2_Missense_Mutation_p.G770V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	770					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GTGATGAAGGGTACCTTGGAG	0.483													21	73					4.35082e-09	1.24911e-08	1	0	T	86940669	G	T	86940669	3	4	298	1	0	0	0	0	1	0	0	0	375	1261	44	4	2371	4	AGBL1	15	86940669	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	7558005	86940669	15590723	221	53543											
NTRK3	4916	broad.mit.edu	37	chr15	88472442	88472442	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtaataatccgtgctgtAgacatctctggacatgccga	10	11	9	11	2	1	1	0	0	1	1	3	3	2	2	3	1	2	3	3	1	3	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:88472442A>T	ENST00000394480.1	-	17	2434	c.2113T>A	c.(2113-2115)Tac>Aac	p.Y705N	NTRK3_ENST00000542733.2_Missense_Mutation_p.Y607N|NTRK3_ENST00000557856.1_Missense_Mutation_p.Y697N|NTRK3_ENST00000357724.2_Missense_Mutation_p.Y697N|NTRK3_ENST00000355254.2_Missense_Mutation_p.Y705N|NTRK3_ENST00000360948.2_Missense_Mutation_p.Y705N|NTRK3_ENST00000558676.1_Missense_Mutation_p.Y697N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	705	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCGTGCTGTAGACATCTCTG	0.517			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			29	126					0	0	0	0	T	88472442	A	T	88472442	3	4	298	1	0	0	0	0	1	0	0	0	10779	420	15	5	422	5	NTRK3	15	88472442	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	1531773	88472442	14058950	222	53544											
BLM	641	broad.mit.edu	37	chr15	91304239	91304239	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caataaatgacttagaaagaGaaacccaaccttcctatgat	18	9	5	9	0	0	4	0	2	0	2	1	5	1	4	3	0	2	0	3	0	8	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:91304239G>C	ENST00000355112.3	+	7	1754	c.1636G>C	c.(1636-1638)Gaa>Caa	p.E546Q	BLM_ENST00000560509.1_Missense_Mutation_p.E546Q	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	546					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTTAGAAAGAGAAACCCAACC	0.338			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				6	72					0	0	0	0	C	91304239	G	C	91304239	3	2	298	1	0	0	0	0	1	0	0	0	1450	943	33	2	1658	2	BLM	15	91304239	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	2831797	91304239	11227153	223	53545											
CHD2	1106	broad.mit.edu	37	chr15	93540258	93540258	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttaatgtgaaatccattAtccaacatgaagaggagttt	15	12	9	5	0	0	3	0	2	0	1	2	4	2	4	2	2	1	2	2	2	5	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:93540258A>G	ENST00000394196.4	+	29	4735	c.3667A>G	c.(3667-3669)Atc>Gtc	p.I1223V	CHD2_ENST00000557381.1_Missense_Mutation_p.I1223V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1223					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAAATCCATTATCCAACATGA	0.378													3	36					0	0	0	0	G	93540258	A	G	93540258	3	3	298	1	0	0	0	0	1	0	0	0	3354	449	16	5	3781	5	CHD2	15	93540258	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	2236019	93540258	8991134	224	53546											
WDR90	197335	broad.mit.edu	37	chr16	703573	703573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcactattggcctcggccCaggcaagggcccctagtgtg	6	8	13	14	1	1	0	1	0	0	0	2	0	1	0	4	4	0	2	4	4	3	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:703573C>A	ENST00000549091.1	+	12	1374	c.1282C>A	c.(1282-1284)Cag>Aag	p.Q428K	WDR90_ENST00000293879.4_Missense_Mutation_p.Q428K	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	428										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCTCGGCCCAGGCAAGGGC	0.652													19	71					1.56452e-12	4.67606e-12	1	0	A	703573	C	A	703573	3	1	298	1	0	0	0	0	1	0	0	0	17433	595	21	4	1328	4	WDR90	16	703573	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08		703573	89651180	225	53547											
WDR90	197335	broad.mit.edu	37	chr16	715788	715788	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttgtgatccagttccAggtgctgaaccaggtgtgtg	7	11	15	8	0	0	2	0	2	0	0	2	3	2	3	3	3	3	3	3	3	1	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:715788A>G	ENST00000549091.1	+	35	4519	c.4427A>G	c.(4426-4428)cAg>cGg	p.Q1476R	WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000293879.4_Missense_Mutation_p.Q1474R|WDR90_ENST00000315764.4_Missense_Mutation_p.Q73R|WDR90_ENST00000547944.1_Missense_Mutation_p.Q73R	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1474										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ATCCAGTTCCAGGTGCTGAAC	0.701													3	29					0	0	0	0	G	715788	A	G	715788	3	3	298	1	0	0	0	0	1	0	0	0	17433	188	7	5	4559	5	WDR90	16	715788	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	12215	715788	89638965	226	53548											
NTN3	4917	broad.mit.edu	37	chr16	2522435	2522435	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcgtcccttactcctacGcagccaccgacctccaggtg	6	8	8	19	4	0	0	0	0	0	0	4	1	3	0	7	1	3	1	7	1	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:2522435G>C	ENST00000293973.1	+	1	936	c.733G>C	c.(733-735)Gca>Cca	p.A245P		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	245	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TTACTCCTACGCAGCCACCGA	0.652													8	57					0	0	0	0	C	2522435	G	C	2522435	3	2	298	1	0	0	0	0	1	0	0	0	10772	1087	38	3	735	3	NTN3	16	2522435	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	1806647	2522435	87832318	227	53549											
RNF40	9810	broad.mit.edu	37	chr16	30776589	30776589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggacttgcagtgggacatcGagaagctgcggaagcgagag	12	5	17	7	3	0	2	0	0	0	2	1	7	0	5	0	3	4	2	0	3	2	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:30776589G>A	ENST00000324685.6	+	7	1294	c.859G>A	c.(859-861)Gag>Aag	p.E287K	RNF40_ENST00000357890.5_Missense_Mutation_p.E287K|RNF40_ENST00000563683.1_Missense_Mutation_p.E287K|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	287					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GTGGGACATCGAGAAGCTGCG	0.582													10	66					0	0	0	0	A	30776589	G	A	30776589	3	1	298	1	0	0	0	0	1	0	0	0	13578	1059	37	1	881	1	RNF40	16	30776589	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	28254154	30776589	59578164	228	53550											
NUP93	9688	broad.mit.edu	37	chr16	56865903	56865903	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcggacaaaactgaggAttacctgtggctgaaggtag	12	8	15	6	1	0	2	0	2	0	0	0	4	0	4	1	5	2	2	1	5	5	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:56865903A>T	ENST00000564887.1	+	9	1495	c.866A>T	c.(865-867)gAt>gTt	p.D289V	NUP93_ENST00000542526.1_Missense_Mutation_p.D289V|NUP93_ENST00000569842.1_Missense_Mutation_p.D412V|NUP93_ENST00000308159.5_Missense_Mutation_p.D412V	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	412					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AAAACTGAGGATTACCTGTGG	0.502													17	94					0	0	0	0	T	56865903	A	T	56865903	3	4	298	1	0	0	0	0	1	0	0	0	10843	333	12	5	1273	5	NUP93	16	56865903	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	26089314	56865903	33488850	229	53551											
CES2	8824	broad.mit.edu	37	chr16	66969362	66969362	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctatgactgctcagtccCgctctcctaccacacccacc	8	8	4	21	1	2	1	1	1	1	0	4	1	3	1	6	0	2	2	6	0	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:66969362C>G	ENST00000317091.4	+	1	1000	c.16C>G	c.(16-18)Cgc>Ggc	p.R6G	CES2_ENST00000417689.1_Missense_Mutation_p.R6G	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	0				Missing (in Ref. 2; AA sequence).	catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TGCTCAGTCCCGCTCTCCTAC	0.647													11	129					0	0	0	0	G	66969362	C	G	66969362	3	3	298	1	0	0	0	0	1	0	0	0	3299	652	23	3	18	3	CES2	16	66969362	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	10103459	66969362	23385391	230	53552											
TPPP3	51673	broad.mit.edu	37	chr16	67425061	67425061	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcccagccaatctgccCttcccctcccccaagcccag	7	7	4	23	0	2	0	0	0	2	0	5	0	4	0	8	0	3	0	8	0	2	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:67425061C>A	ENST00000564104.1	-	0	795				TPPP3_ENST00000290942.5_Intron|TPPP3_ENST00000562206.1_Intron|TPPP3_ENST00000393957.2_Intron			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3						microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CCAATCTGCCCTTCCCCTCCC	0.607													10	18					1.58986e-06	4.18908e-06	1	0	A	67425061	C	A	67425061	1	1	298	1	0	0	0	0	0	0	0	0	16510	696	24	4		4	TPPP3	16	67425061	Translation_Start_Site	SNP	C	TCGA-CV-7254-01A-11D-2012-08	455699	67425061	22929692	231	53553											
ZFHX3	463	broad.mit.edu	37	chr16	72984464	72984464	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtcacaggcgttgcacttGaggtgcacggggttgccgat	7	10	15	9	3	1	1	1	1	0	0	1	2	1	1	1	4	3	4	1	4	1	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:72984464G>C	ENST00000268489.5	-	3	3792	c.3120C>G	c.(3118-3120)ctC>ctG	p.L1040L	ZFHX3_ENST00000397992.5_Silent_p.L126L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1040					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGTTGCACTTGAGGTGCACGG	0.597													24	33					0	0	0	0	C	72984464	G	C	72984464	2	2	298	1	0	0	0	0	0	0	0	1	17729	1277	45	2		2	ZFHX3	16	72984464	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	5559403	72984464	17370289	232	53554											
BCMO1	53630	broad.mit.edu	37	chr16	81298334	81298334	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctaaacatgggcacatcCattgtggaaaaggggaagac	14	8	12	7	0	1	1	0	0	1	1	2	3	2	3	1	4	1	2	1	4	5	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:81298334C>T	ENST00000258168.2	+	5	1022	c.561C>T	c.(559-561)tcC>tcT	p.S187S	BCMO1_ENST00000425577.2_Silent_p.S118S	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	187					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGGGCACATCCATTGTGGAAA	0.428													10	38					0	0	0	0	T	81298334	C	T	81298334	2	4	298	1	0	0	0	0	0	0	0	1	1388	581	21	4		4	BCMO1	16	81298334	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	8313870	81298334	9056419	233	53555											
SPATA2L	124044	broad.mit.edu	37	chr16	89764695	89764695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacccttcagcacgtgcaCgtagcccccagagaaggtct	10	6	9	16	2	2	1	1	0	1	1	2	2	2	1	3	1	3	3	3	1	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:89764695C>T	ENST00000289805.5	-	3	390	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	SPATA2L_ENST00000335360.7_Missense_Mutation_p.V108M	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	108										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCACGTGCACGTAGCCCCCA	0.617													25	252					0	0	0	0	T	89764695	C	T	89764695	3	4	298	1	0	0	0	0	1	0	0	0	15099	536	19	1	956	1	SPATA2L	16	89764695	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	8466361	89764695	590058	234	53556											
RILP	83547	broad.mit.edu	37	chr17	1552568	1552570	+	In_Frame_Del	DEL	CCT	CCT	-																															gtcccgctgtcggtccgtgaCctccttgagctgccgcagca																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:1552568_1552570delCCT	ENST00000301336.6	-	3	625_627	c.353_355delAGG	c.(352-357)gtc>g	p.EV118del		NM_031430.2	NP_113618.2	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	118					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGGTCCGTGACCTCCTTGAGCTG	0.764													4	3	---	---	---	---					-	1552570	CCT	-	1552568	7	5	298	1	0	1	0	1	0	0	0	0	13443	507	18	0	874	0	RILP	17	1552568	In_Frame_Del	DEL	CCT	TCGA-CV-7254-01A-11D-2012-08		1552568	79642642	235	53557											
KIF1C	10749	broad.mit.edu	37	chr17	4910344	4910344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccccaacacggagtccCagattgggcctgaggaagcc	9	6	11	15	1	1	2	0	1	1	1	3	4	2	4	5	3	2	0	5	3	2	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:4910344C>A	ENST00000320785.5	+	14	1657	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	434					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CACGGAGTCCCAGATTGGGCC	0.597													17	64					0.000566183	0.00137013	1	0	A	4910344	C	A	4910344	3	1	298	1	0	0	0	0	1	0	0	0	8336	595	21	4	1346	4	KIF1C	17	4910344	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	3357776	4910344	76284866	236	53558											
RPAIN	84268	broad.mit.edu	37	chr17	5323591	5323591	+	Missense_Mutation	SNP	T	T	C																															aactggtgggctcgccgcctTggaaagaggctttccggcag																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:5323591T>C	ENST00000381209.3	+	1	631	c.61T>C	c.(61-63)Tgg>Cgg	p.W21R	RPAIN_ENST00000574003.1_Missense_Mutation_p.W21R|RPAIN_ENST00000327154.6_Missense_Mutation_p.W21R|RPAIN_ENST00000405578.4_Missense_Mutation_p.W21R|RPAIN_ENST00000536255.2_Missense_Mutation_p.W21R|RPAIN_ENST00000381208.5_Missense_Mutation_p.W21R	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	21					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CTCGCCGCCTTGGAAAGAGGC	0.627													12	35					0	0	0	0	C	5323591	T	C	5323591	3	2	298	1	0	0	0	0	1	0	0	0	13625	1812	63	5	63	5	RPAIN	17	5323591	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	413247	5323591	75871619	237	53559	422	2									
RPAIN	84268	broad.mit.edu	37	chr17	5323592	5323592	+	Missense_Mutation	SNP	G	G	T																															actggtgggctcgccgccttGgaaagaggctttccggcagg																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:5323592G>T	ENST00000381209.3	+	1	632	c.62G>T	c.(61-63)tGg>tTg	p.W21L	RPAIN_ENST00000574003.1_Missense_Mutation_p.W21L|RPAIN_ENST00000327154.6_Missense_Mutation_p.W21L|RPAIN_ENST00000405578.4_Missense_Mutation_p.W21L|RPAIN_ENST00000536255.2_Missense_Mutation_p.W21L|RPAIN_ENST00000381208.5_Missense_Mutation_p.W21L	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	21					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						TCGCCGCCTTGGAAAGAGGCT	0.627													12	34					2.27111e-07	6.20874e-07	1	0	T	5323592	G	T	5323592	3	4	298	1	0	0	0	0	1	0	0	0	13625	1357	47	4	64	4	RPAIN	17	5323592	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	1	5323592	75871618	238	53560	422	2									
TP53	7157	broad.mit.edu	37	chr17	7577508	7577508	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcctgacctggagtctTccagtgtgatgatggtgagg	6	12	15	8	0	1	4	0	4	1	0	3	5	3	5	3	4	0	1	3	4	0	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:7577508T>G	ENST00000420246.2	-	7	905	c.773A>C	c.(772-774)gAa>gCa	p.E258A	TP53_ENST00000445888.2_Missense_Mutation_p.E258A|TP53_ENST00000269305.4_Missense_Mutation_p.E258A|TP53_ENST00000455263.2_Missense_Mutation_p.E258A|TP53_ENST00000359597.4_Missense_Mutation_p.E258A|TP53_ENST00000413465.2_Missense_Mutation_p.E258A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	258	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E258G(8)|p.E258V(5)|p.E258A(5)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.E258L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTGGAGTCTTCCAGTGTGAT	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	29					0	0	0	0	G	7577508	T	G	7577508	3	3	298	1	0	0	0	0	1	0	0	0	16476	1783	62	5	517	5	TP53	17	7577508	Missense_Mutation	SNP	T	TCGA-CV-7254-01A-11D-2012-08	2253916	7577508	73617702	239	53561											
NDEL1	81565	broad.mit.edu	37	chr17	8383805	8383805	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccagctgtgcgatcCgagcttccagacgccgcttc	5	9	9	18	4	0	1	0	0	0	1	5	3	4	1	6	0	3	3	6	0	0	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:8383805C>T	ENST00000299734.7	+	9	1164	c.967C>T	c.(967-969)Cga>Tga	p.R323*	MYH10_ENST00000379980.4_Missense_Mutation_p.R1753Q|MYH10_ENST00000269243.4_Missense_Mutation_p.R1737Q|MYH10_ENST00000396239.1_Missense_Mutation_p.R1758Q|MYH10_ENST00000360416.3_Missense_Mutation_p.R1768Q			Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	0	Interaction with CENPF.|Interaction with NEFL (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						CTGTGCGATCCGAGCTTCCAG	0.632													10	12					0	0	0	0	T	8383805	C	T	8383805	4	4	298	1	0	0	0	0	0	1	0	0	10314	652	23	1		1	NDEL1	17	8383805	Nonsense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	806297	8383805	72811405	240	53562											
TBC1D28	254272	broad.mit.edu	37	chr17	18542504	18542504	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttcacctccagggcaCtgacgcggggcagctccatc	7	8	10	16	2	1	1	1	1	0	0	4	1	3	1	4	3	2	3	4	3	1	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:18542504C>G	ENST00000345096.4	-	5	881	c.182G>C	c.(181-183)aGt>aCt	p.S61T	TBC1D28_ENST00000405044.1_Missense_Mutation_p.S61T			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	61						intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						CTCCAGGGCACTGACGCGGGG	0.652													20	31					0	0	0	0	G	18542504	C	G	18542504	3	3	298	1	0	0	0	0	1	0	0	0	15708	565	20	4	470	4	TBC1D28	17	18542504	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	10158699	18542504	62652706	241	53563											
SLC13A2	9058	broad.mit.edu	37	chr17	26822750	26822750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctccagccattgccatcatCctctccctcctggtggccac	5	10	7	19	0	2	0	1	0	1	0	6	0	5	0	7	2	2	1	7	2	0	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:26822750C>T	ENST00000444914.3	+	10	1953	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	SLC13A2_ENST00000314669.5_Silent_p.I462I|SLC13A2_ENST00000545060.1_Silent_p.I419I|SLC13A2_ENST00000537681.1_Silent_p.I391I	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	462						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TTGCCATCATCCTCTCCCTCC	0.612													51	112					0	0	0	0	T	26822750	C	T	26822750	2	4	298	1	0	0	0	0	0	0	0	1	14480	845	30	2		2	SLC13A2	17	26822750	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	8280246	26822750	54372460	242	53564											
MED24	9862	broad.mit.edu	37	chr17	38179592	38179592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacttgatctgcgtggctGtctgctgcagcacgtcggca	7	10	13	11	3	2	1	0	1	2	0	3	2	2	1	0	2	5	5	0	2	1	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:38179592G>T	ENST00000394126.1	-	19	2535	c.2117C>A	c.(2116-2118)aCa>aAa	p.T706K	MED24_ENST00000501516.3_Missense_Mutation_p.T700K|MED24_ENST00000394128.2_Missense_Mutation_p.T681K|MED24_ENST00000356271.3_Missense_Mutation_p.T668K|MED24_ENST00000394127.2_Missense_Mutation_p.T668K			O75448	MED24_HUMAN	mediator complex subunit 24	681					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CTGCGTGGCTGTCTGCTGCAG	0.612													16	33					1.02788e-11	3.04939e-11	1	0	T	38179592	G	T	38179592	3	4	298	1	0	0	0	0	1	0	0	0	9511	1377	48	4	955	4	MED24	17	38179592	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	11356842	38179592	43015618	243	53565											
PLEKHH3	79990	broad.mit.edu	37	chr17	40825796	40825796	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgagcacaaaccaggctcGgcgcgggggcagccagggcc	8	2	17	14	4	0	1	0	1	0	0	1	1	0	1	3	5	3	3	3	5	1	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:40825796G>A	ENST00000293349.6	-	4	785	c.355C>T	c.(355-357)Cga>Tga	p.R119*	PLEKHH3_ENST00000412503.1_Nonsense_Mutation_p.R119*|PLEKHH3_ENST00000591022.1_Nonsense_Mutation_p.R119*|PLEKHH3_ENST00000456950.2_5'UTR			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	119	PH.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AACCAGGCTCGGCGCGGGGGC	0.697													7	5					0	0	0	0	A	40825796	G	A	40825796	4	1	298	1	0	0	0	0	0	1	0	0	12150	1124	39	1	2066	1	PLEKHH3	17	40825796	Nonsense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	2646204	40825796	40369414	244	53566											
EFTUD2	9343	broad.mit.edu	37	chr17	42930947	42930947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatctggcccccgccccggtGcaggggctcctgggcaacca	5	5	14	17	2	1	0	0	0	1	0	2	1	2	0	6	5	2	3	6	5	1	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:42930947G>T	ENST00000426333.2	-	24	2701	c.2404C>A	c.(2404-2406)Cac>Aac	p.H802N	EFTUD2_ENST00000402521.3_Missense_Mutation_p.H767N|EFTUD2_ENST00000591382.1_Missense_Mutation_p.H802N|EFTUD2_ENST00000592576.1_Missense_Mutation_p.H792N	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	802						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCGCCCCGGTGCAGGGGCTCC	0.592													6	57					5.9392e-07	1.59641e-06	1	0	T	42930947	G	T	42930947	3	4	298	1	0	0	0	0	1	0	0	0	4997	1319	46	4	534	4	EFTUD2	17	42930947	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	2105151	42930947	38264263	245	53567											
TOB1	10140	broad.mit.edu	37	chr17	48941307	48941307	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaccaaaaatgttgacAcgtctcctgggaagcttatt	11	13	7	10	1	3	1	1	1	2	0	4	2	3	2	2	1	1	2	2	1	4	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:48941307A>G	ENST00000499247.2	-	2	505	c.72T>C	c.(70-72)cgT>cgC	p.R24R	TOB1_ENST00000268957.3_Silent_p.R24R|TOB1_ENST00000509385.1_5'UTR	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	24					negative regulation of cell proliferation		SH3/SH2 adaptor activity	p.R22fs*5(1)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AAATGTTGACACGTCTCCTGG	0.373													11	101					0	0	0	0	G	48941307	A	G	48941307	2	3	298	1	0	0	0	0	0	0	0	1	16441	146	6	5		5	TOB1	17	48941307	Silent	SNP	A	TCGA-CV-7254-01A-11D-2012-08	6010360	48941307	32253903	246	53568											
EPX	8288	broad.mit.edu	37	chr17	56271376	56271376	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggctcgctggctgcccGccgagtatgaggatgggctg	4	9	16	12	3	1	1	0	1	1	0	2	3	1	2	2	4	1	5	2	4	1	1	rs150719520		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:56271376G>C	ENST00000225371.5	+	5	627	c.517G>C	c.(517-519)Gcc>Ccc	p.A173P		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	173					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CTGGCTGCCCGCCGAGTATGA	0.652													13	51					0	0	0	0	C	56271376	G	C	56271376	3	2	298	1	0	0	0	0	1	0	0	0	5238	1087	38	3	535	3	EPX	17	56271376	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	7330069	56271376	24923834	247	53569											
RAD51C	5889	broad.mit.edu	37	chr17	56772501	56772501	+	Frame_Shift_Del	DEL	A	A	-																															ggggtggagtgcccttaatgAaaacaacagaaatttgtggt																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:56772501delA	ENST00000337432.4	+	2	426	c.355delA	c.(355-357)aafs	p.K119fs	RAD51C_ENST00000421782.2_Frame_Shift_Del_p.K119fs|RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Frame_Shift_Del_p.K119fs	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	119					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCCTTAATGAAAACAACAGA	0.398								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				15	30	---	---	---	---					-	56772501	A	-	56772501	7	5	298	1	0	1	0	1	0	0	0	0	13070	247	9	0	361	0	RAD51C	17	56772501	Frame_Shift_Del	DEL	A	TCGA-CV-7254-01A-11D-2012-08	501125	56772501	24422709	248	53570											
CD300A	11314	broad.mit.edu	37	chr17	72469713	72469713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgcaggaccgtggcgggcCccgtggggggatccctgagt	6	6	18	11	3	0	1	0	1	0	0	1	3	1	3	4	6	1	1	4	6	1	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:72469713C>A	ENST00000360141.3	+	2	367	c.79C>A	c.(79-81)Ccc>Acc	p.P27T	CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000310828.5_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	27	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CGTGGCGGGCCCCGTGGGGGG	0.562													19	89					1.15919e-05	2.96648e-05	1	0	A	72469713	C	A	72469713	3	1	298	1	0	0	0	0	1	0	0	0	3025	623	22	4	85	4	CD300A	17	72469713	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	15697212	72469713	8725497	249	53571											
QRICH2	84074	broad.mit.edu	37	chr17	74271917	74271917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacctgaggtgttgccagccGaaatctgggcgctctgtggc	6	10	14	11	2	2	1	0	1	2	0	2	2	2	1	3	3	3	2	3	3	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:74271917G>A	ENST00000262765.5	-	18	5146	c.4967C>T	c.(4966-4968)tCg>tTg	p.S1656L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1656							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTTGCCAGCCGAAATCTGGGC	0.672													10	32					0	0	0	0	A	74271917	G	A	74271917	3	1	298	1	0	0	0	0	1	0	0	0	12962	1059	37	1	32	1	QRICH2	17	74271917	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	1802204	74271917	6923293	250	53572											
RNF213	57674	broad.mit.edu	37	chr17	78319512	78319512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggaacaactgcagacatGatctactccagagtcaggga	14	6	12	9	0	2	3	1	1	1	2	3	6	3	6	1	3	4	1	1	3	3	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:78319512G>C	ENST00000582970.1	+	29	7520	c.7377G>C	c.(7375-7377)atG>atC	p.M2459I	RNF213_ENST00000508628.2_Missense_Mutation_p.M2508I|RNF213_ENST00000336301.6_Missense_Mutation_p.M532I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGCAGACATGATCTACTCCA	0.488													17	106					0	0	0	0	C	78319512	G	C	78319512	3	2	298	1	0	0	0	0	1	0	0	0	13562	1290	45	2	7806	2	RNF213	17	78319512	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	4047595	78319512	2875698	251	53573											
RNF213	57674	broad.mit.edu	37	chr17	78360548	78360548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcagttatgaagtggagCgggacctgactccactgatt	10	11	11	9	1	2	3	2	3	0	0	3	5	3	5	2	2	1	1	2	2	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:78360548C>T	ENST00000582970.1	+	63	14922	c.14779C>T	c.(14779-14781)Cgg>Tgg	p.R4927W	RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4976W|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R3000W	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGAAGTGGAGCGGGACCTGAC	0.572													35	36					0	0	0	0	T	78360548	C	T	78360548	3	4	298	1	0	0	0	0	1	0	0	0	13562	759	27	1	15344	1	RNF213	17	78360548	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	41036	78360548	2834662	252	53574											
LRRC45	201255	broad.mit.edu	37	chr17	79986313	79986313	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaggtgtcagcaggagcAgctgttccagaccaggcagg	9	7	15	10	0	2	1	2	0	0	1	3	2	3	2	2	4	3	6	2	4	0	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:79986313A>T	ENST00000306688.3	+	11	1508	c.1166A>T	c.(1165-1167)cAg>cTg	p.Q389L		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	389						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAGCAGGAGCAGCTGTTCCAG	0.662													16	87					0	0	0	0	T	79986313	A	T	79986313	3	4	298	1	0	0	0	0	1	0	0	0	9066	188	7	5	1208	5	LRRC45	17	79986313	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	1625765	79986313	1208897	253	53575											
FN3KRP	79672	broad.mit.edu	37	chr17	80684370	80684370	+	Missense_Mutation	SNP	G	G	T																															gtgcaggtgaatgactggcaGgaggactgggtcgtgttcta																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:80684370G>T	ENST00000269373.6	+	5	556	c.483G>T	c.(481-483)caG>caT	p.Q161H	FN3KRP_ENST00000535965.1_Missense_Mutation_p.Q111H	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	161							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ATGACTGGCAGGAGGACTGGG	0.557													98	207					1.12176e-53	3.77535e-53	1	0	T	80684370	G	T	80684370	3	4	298	1	0	0	0	0	1	0	0	0	6009	991	35	4	501	4	FN3KRP	17	80684370	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	698057	80684370	510840	254	53576	423	2									
FN3KRP	79672	broad.mit.edu	37	chr17	80684371	80684371	+	Nonsense_Mutation	SNP	G	G	T																															tgcaggtgaatgactggcagGaggactgggtcgtgttctat																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:80684371G>T	ENST00000269373.6	+	5	557	c.484G>T	c.(484-486)Gag>Tag	p.E162*	FN3KRP_ENST00000535965.1_Nonsense_Mutation_p.E112*	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	162							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TGACTGGCAGGAGGACTGGGT	0.562													100	205					1.72158e-54	5.81852e-54	1	0	T	80684371	G	T	80684371	4	4	298	1	0	0	0	0	0	1	0	0	6009	1175	41	2	502	2	FN3KRP	17	80684371	Nonsense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	1	80684371	510839	255	53577	423	2									
EPB41L3	23136	broad.mit.edu	37	chr18	5397303	5397303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaagcatccccactcgcGtgcaccacacgccgctcctc	9	6	7	19	4	0	1	0	0	0	1	4	1	2	1	5	0	2	3	5	0	2	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr18:5397303G>T	ENST00000341928.2	-	18	2935	c.2595C>A	c.(2593-2595)caC>caA	p.H865Q	EPB41L3_ENST00000544123.1_Missense_Mutation_p.H696Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.H643Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.H643Q|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.H170Q|EPB41L3_ENST00000427684.2_Missense_Mutation_p.H162Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.H865Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	865	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCCCACTCGCGTGCACCACAC	0.617													29	41					7.68411e-24	2.50202e-23	1	0	T	5397303	G	T	5397303	3	4	298	1	0	0	0	0	1	0	0	0	5192	1136	40	3	688	3	EPB41L3	18	5397303	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08		5397303	72679945	256	53578											
ANKRD12	23253	broad.mit.edu	37	chr18	9256148	9256148	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagggagctagataaaaaGgaaaaatctagagataaaga	22	5	11	3	0	1	3	0	0	1	3	1	7	1	5	0	2	1	1	0	2	9	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr18:9256148G>A	ENST00000383440.2	+	8	3071	c.2814G>A	c.(2812-2814)aaG>aaA	p.K938K	ANKRD12_ENST00000400020.3_Silent_p.K938K|ANKRD12_ENST00000262126.3_Silent_p.K961K	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	961						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TAGATAAAAAGGAAAAATCTA	0.284													4	19					0	0	0	0	A	9256148	G	A	9256148	2	1	298	1	0	0	0	0	0	0	0	1	640	991	35	4		4	ANKRD12	18	9256148	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	3858845	9256148	68821100	257	53579											
PIK3C3	5289	broad.mit.edu	37	chr18	39618758	39618758	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaagctgttacggaaagAaaatctggacttgaaattga	17	11	9	4	1	1	3	0	2	1	1	1	5	1	5	0	2	2	2	0	2	7	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr18:39618758A>C	ENST00000262039.4	+	18	2068	c.1982A>C	c.(1981-1983)gAa>gCa	p.E661A	PIK3C3_ENST00000587402.1_Missense_Mutation_p.E8A|PIK3C3_ENST00000593098.1_Missense_Mutation_p.E146A|PIK3C3_ENST00000589056.1_Missense_Mutation_p.E8A|PIK3C3_ENST00000398870.3_Missense_Mutation_p.E598A	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	661	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTACGGAAAGAAAATCTGGAC	0.299										TSP Lung(28;0.18)			10	30					0	0	0	0	C	39618758	A	C	39618758	3	2	298	1	0	0	0	0	1	0	0	0	11984	246	9	5	2052	5	PIK3C3	18	39618758	Missense_Mutation	SNP	A	TCGA-CV-7254-01A-11D-2012-08	30362610	39618758	38458490	258	53580											
VAV1	7409	broad.mit.edu	37	chr19	6854109	6854109	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgaggggagatctatggccgGgtgaggcaggcagggctggg	7	5	22	7	2	1	2	0	1	1	1	1	4	1	2	1	8	0	3	1	8	1	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:6854109G>T	ENST00000304076.2	+	25	2512	c.2418_splice	c.e25+1	p.R806_splice	VAV1_ENST00000602142.1_Splice_Site_p.R828_splice|VAV1_ENST00000599806.1_Splice_Site_p.R773_splice|VAV1_ENST00000596764.1_Splice_Site_p.R796_splice|VAV1_ENST00000539284.1_Splice_Site_p.R731_splice	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	828	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TCTATGGCCGGGTGAGGCAGG	0.622													8	31					3.09899e-07	8.41453e-07	1	0	T	6854109	G	T	6854109	5	4	298	1	0	0	0	0	0	0	1	0	17227	1246	43	4	2586	4	VAV1	19	6854109	Splice_Site	SNP	G	TCGA-CV-7254-01A-11D-2012-08		6854109	52274874	259	53581											
ICAM1	3383	broad.mit.edu	37	chr19	10385697	10385697	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctaaaaccttcctcacCgtgtactgtgagtaactgag	12	10	8	11	1	1	2	1	2	0	0	2	2	2	2	3	0	4	3	3	0	4	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:10385697C>A	ENST00000264832.3	+	2	649	c.324C>A	c.(322-324)acC>acA	p.T108T	ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	108					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CCTTCCTCACCGTGTACTGTG	0.552													22	104					3.62473e-10	1.05579e-09	1	0	A	10385697	C	A	10385697	2	1	298	1	0	0	0	0	0	0	0	1	7532	639	23	3		3	ICAM1	19	10385697	Silent	SNP	C	TCGA-CV-7254-01A-11D-2012-08	3531588	10385697	48743286	260	53582											
SMARCA4	6597	broad.mit.edu	37	chr19	11138619	11138619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcggctttaaatacctcagGcttgatggtgagtatgagcc	9	11	12	9	2	1	3	1	3	0	0	1	3	1	3	2	3	2	3	2	3	4	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:11138619G>T	ENST00000358026.2	+	24	3659	c.3375G>T	c.(3373-3375)agG>agT	p.R1125S	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1125S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1125S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1125S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1125S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1125S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1125S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1125S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1125S	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1125	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AATACCTCAGGCTTGATGGTG	0.512			"F, N, Mis"		NSCLC								43	89					2.54354e-34	8.45384e-34	1	0	T	11138619	G	T	11138619	3	4	298	1	0	0	0	0	1	0	0	0	14858	1194	42	4	3465	4	SMARCA4	19	11138619	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	752922	11138619	47990364	261	53583											
SIN3B	23309	broad.mit.edu	37	chr19	16977356	16977356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaacgagatcgagagcGtctacgacgaggtaaagcct	12	7	12	10	5	2	2	1	0	1	2	3	6	2	2	1	1	5	2	1	1	4	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:16977356G>T	ENST00000379803.1	+	13	1905	c.1891G>T	c.(1891-1893)Gtc>Ttc	p.V631F	SIN3B_ENST00000595541.1_Missense_Mutation_p.V189F|SIN3B_ENST00000248054.5_Missense_Mutation_p.V599F	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	631					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GATCGAGAGCGTCTACGACGA	0.622													29	20					2.65835e-16	8.35033e-16	1	0	T	16977356	G	T	16977356	3	4	298	1	0	0	0	0	1	0	0	0	14414	1145	40	3	1941	3	SIN3B	19	16977356	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	5838737	16977356	42151627	262	53584											
GMIP	51291	broad.mit.edu	37	chr19	19753398	19753398	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggaagatgtcactgtacCtcttcctgccctcaggacct	7	11	8	15	1	3	1	2	0	1	1	5	3	5	3	5	2	2	1	5	2	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:19753398C>G	ENST00000203556.4	-	2	187	c.50G>C	c.(49-51)aGg>aCg	p.R17T	GMIP_ENST00000587238.1_Missense_Mutation_p.R17T|GMIP_ENST00000445806.2_Missense_Mutation_p.R17T	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	17					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTCACTGTACCTCTTCCTGCC	0.592													89	64					0	0	0	0	G	19753398	C	G	19753398	3	3	298	1	0	0	0	0	1	0	0	0	6542	681	24	4	2942	4	GMIP	19	19753398	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	2776042	19753398	39375585	263	53585											
ZNF257	113835	broad.mit.edu	37	chr19	22271543	22271543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttaaccagtcctcagccCttactcgacataagatgatt	11	12	5	13	1	1	2	1	1	0	1	3	3	2	2	4	0	3	0	4	0	3	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:22271543C>T	ENST00000594947.1	+	4	1135	c.991C>T	c.(991-993)Ctt>Ttt	p.L331F		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTCCTCAGCCCTTACTCGACA	0.423													23	41					0	0	0	0	T	22271543	C	T	22271543	3	4	298	1	0	0	0	0	1	0	0	0	17895	681	24	4	1005	4	ZNF257	19	22271543	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	2518145	22271543	36857440	264	53586											
LGALS14	56891	broad.mit.edu	37	chr19	40197266	40197266	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgcctgtttccttgccTgttggttcgtgcgtgataat	5	16	10	10	2	0	1	0	1	0	0	2	1	1	1	3	1	3	3	3	1	1	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:40197266T>C	ENST00000392052.3	+	2	268	c.45T>C	c.(43-45)ccT>ccC	p.P15P	LGALS14_ENST00000360675.3_Silent_p.P44P	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	15	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TTTCCTTGCCTGTTGGTTCGT	0.498													66	131					0	0	0	0	C	40197266	T	C	40197266	2	2	298	1	0	0	0	0	0	0	0	1	8794	1567	55	5		5	LGALS14	19	40197266	Silent	SNP	T	TCGA-CV-7254-01A-11D-2012-08	17925723	40197266	18931717	265	53587											
MAP3K10	4294	broad.mit.edu	37	chr19	40710471	40710471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggccgtggcgtatggcGtggctatgaataagctgacg	7	10	15	9	4	0	2	0	2	0	0	0	2	0	2	2	4	1	3	2	4	4	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:40710471G>A	ENST00000253055.3	+	3	1231	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	315	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGCGTATGGCGTGGCTATGAA	0.682													7	41					0	0	0	0	A	40710471	G	A	40710471	3	1	298	1	0	0	0	0	1	0	0	0	9313	1145	40	1	953	1	MAP3K10	19	40710471	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	513205	40710471	18418512	266	53588											
KCNN4	3783	broad.mit.edu	37	chr19	44271786	44271786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagcttccccgccagcGtgtcaatctgtttctccagg	6	11	8	16	2	3	0	1	0	2	0	6	0	5	0	5	1	2	2	5	1	1	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:44271786G>A	ENST00000262888.3	-	8	1588	c.1193C>T	c.(1192-1194)aCg>aTg	p.T398M		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	398					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CCCCGCCAGCGTGTCAATCTG	0.602													33	31					0	0	0	0	A	44271786	G	A	44271786	3	1	298	1	0	0	0	0	1	0	0	0	8134	1145	40	1	94	1	KCNN4	19	44271786	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	3561315	44271786	14857197	267	53589											
TOMM40	10452	broad.mit.edu	37	chr19	45406351	45406351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctcccacccctgcccctGacactggcccttggggcctt	5	8	9	19	0	0	1	0	1	0	0	1	1	1	1	7	3	2	1	7	3	1	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:45406351G>A	ENST00000426677.2	+	9	1191	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L	TOMM40_ENST00000405636.2_Silent_p.L337L|TOMM40_ENST00000592434.1_3'UTR|TOMM40_ENST00000252487.5_Silent_p.L337L	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	337					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CCCTGCCCCTGACACTGGCCC	0.627													15	52					0	0	0	0	A	45406351	G	A	45406351	2	1	298	1	0	0	0	0	0	0	0	1	16452	1277	45	2		2	TOMM40	19	45406351	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	1134565	45406351	13722632	268	53590											
NLRP12	91662	broad.mit.edu	37	chr19	54313633	54313633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtggtggtcctggacGtctgtctcaacagcccccca	6	9	11	15	1	2	0	1	0	2	0	4	1	3	1	4	3	3	1	4	3	1	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:54313633G>T	ENST00000324134.6	-	3	1448	c.1280C>A	c.(1279-1281)aCg>aAg	p.T427K	NLRP12_ENST00000351894.4_Missense_Mutation_p.T427K|NLRP12_ENST00000535162.1_Missense_Mutation_p.T427K|NLRP12_ENST00000354278.3_Missense_Mutation_p.T427K|NLRP12_ENST00000391773.1_Missense_Mutation_p.T427K|NLRP12_ENST00000345770.5_Missense_Mutation_p.T427K|NLRP12_ENST00000391772.1_Missense_Mutation_p.T427K|NLRP12_ENST00000391775.3_Missense_Mutation_p.T427K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	427	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGTCCTGGACGTCTGTCTCAA	0.642													59	96					3.53049e-34	1.16856e-33	1	0	T	54313633	G	T	54313633	3	4	298	1	0	0	0	0	1	0	0	0	10544	1145	40	3	2033	3	NLRP12	19	54313633	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	8907282	54313633	4815350	269	53591											
LILRA6	79168	broad.mit.edu	37	chr19	54744856	54744856	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccagcctggggctgctggCcagggcgctggaggaagtca	6	5	18	12	1	1	0	1	0	0	0	1	2	1	2	3	6	2	3	3	6	1	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:54744856C>G	ENST00000440558.2	-	5	854	c.806G>C	c.(805-807)gGc>gCc	p.G269A	LILRA6_ENST00000419410.2_Missense_Mutation_p.G269A|LILRA6_ENST00000396365.2_Missense_Mutation_p.G269A|LILRA6_ENST00000245621.5_Missense_Mutation_p.G269A|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGCTGCTGGCCAGGGCGCTG	0.642													21	68					0	0	0	0	G	54744856	C	G	54744856	3	3	298	1	0	0	0	0	1	0	0	0	8843	739	26	4	655	4	LILRA6	19	54744856	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	431223	54744856	4384127	270	53592											
LILRB5	10990	broad.mit.edu	37	chr19	54755925	54755925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcggggcctcacccgagcatCcatctccaccccgtccttgg	5	7	10	19	3	2	0	1	0	1	0	5	1	4	0	7	3	1	1	7	3	0	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:54755925C>G	ENST00000450632.1	-	12	1671	c.1594G>C	c.(1594-1596)Gat>Cat	p.D532H	LILRB5_ENST00000316219.5_Missense_Mutation_p.D540H|LILRB5_ENST00000449561.2_Missense_Mutation_p.D541H|LILRB5_ENST00000345866.6_Missense_Mutation_p.D441H			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	540					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACCCGAGCATCCATCTCCACC	0.627													4	160					0	0	0	0	G	54755925	C	G	54755925	3	3	298	1	0	0	0	0	1	0	0	0	8848	855	30	2	162	2	LILRB5	19	54755925	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	11069	54755925	4373058	271	53593											
ZNF524	147807	broad.mit.edu	37	chr19	56114033	56114033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcgaggcgggcgagctGgcgcaccaccaccgcgtgca	6	4	15	16	7	0	0	0	0	0	0	1	2	1	0	4	3	2	3	4	3	0	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:56114033G>A	ENST00000591046.1	+	1	789	c.555G>A	c.(553-555)ctG>ctA	p.L185L	ZNF524_ENST00000301073.3_Silent_p.L185L			Q96C55	ZN524_HUMAN	zinc finger protein 524	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGGGCGAGCTGGCGCACCACC	0.736													10	13					0	0	0	0	A	56114033	G	A	56114033	2	1	298	1	0	0	0	0	0	0	0	1	18061	1335	47	4		4	ZNF524	19	56114033	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	1358108	56114033	3014950	272	53594											
ZNF547	284306	broad.mit.edu	37	chr19	57888603	57888603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctatctacccagaataccCagccctgtgagacatgtagc	11	9	8	13	0	2	2	0	1	2	2	2	3	2	2	3	0	4	1	3	0	5	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:57888603C>A	ENST00000282282.3	+	4	409	c.259C>A	c.(259-261)Cag>Aag	p.Q87K	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCAGAATACCCAGCCCTGTGA	0.547													19	31					9.7654e-05	0.000243679	1	0	A	57888603	C	A	57888603	3	1	298	1	0	0	0	0	1	0	0	0	18074	595	21	4	269	4	ZNF547	19	57888603	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	1774570	57888603	1240380	273	53595											
TGM6	343641	broad.mit.edu	37	chr20	2413288	2413288	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtggccactgccaagtGatggatcatgagggactgag	10	8	14	9	0	1	3	1	3	0	0	1	5	1	5	3	3	1	0	3	3	1	0			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:2413288G>T	ENST00000202625.2	+	13	2181	c.2120G>T	c.(2119-2121)tGa>tTa	p.*707L	TGM6_ENST00000381423.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	0					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACTGCCAAGTGATGGATCATG	0.572													18	62					1.45105e-14	4.43623e-14	1	0	T	2413288	G	T	2413288	4	4	298	1	0	0	0	0	0	0	0	0	15928	1285	45	2	2170	2	TGM6	20	2413288	Nonstop_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08		2413288	60612232	274	53596											
SIGLEC1	6614	broad.mit.edu	37	chr20	3678550	3678550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggttgtgaatctccacacGcagcaagttgggggctttgg	8	10	15	8	1	1	1	0	1	1	0	2	1	1	1	1	4	1	5	1	4	2	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:3678550G>A	ENST00000344754.4	-	8	2016	c.2017C>T	c.(2017-2019)Cgt>Tgt	p.R673C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R673C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	673	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ATCTCCACACGCAGCAAGTTG	0.612													10	50					0	0	0	0	A	3678550	G	A	3678550	3	1	298	1	0	0	0	0	1	0	0	0	14393	1087	38	1	3168	1	SIGLEC1	20	3678550	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	1265262	3678550	59346970	275	53597											
HAO1	54363	broad.mit.edu	37	chr20	7875861	7875861	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtttaacagcctccctGgcatcatcacctggagagag	10	9	9	13	0	2	1	2	0	0	1	3	3	3	2	4	2	2	2	4	2	1	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:7875861G>T	ENST00000378789.3	-	5	783	c.732C>A	c.(730-732)gcC>gcA	p.A244A		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	244	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGCCTCCCTGGCATCATCAC	0.512													11	70					0.00010058	0.000248656	1	0	T	7875861	G	T	7875861	2	4	298	1	0	0	0	0	0	0	0	1	7001	1335	47	4		4	HAO1	20	7875861	Silent	SNP	G	TCGA-CV-7254-01A-11D-2012-08	4197311	7875861	55149659	276	53598											
REM1	28954	broad.mit.edu	37	chr20	30070276	30070276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagacttggcccgctgccgaGaagtctctgtggaaggtgag	8	8	15	10	2	1	3	0	1	1	2	2	5	1	4	2	3	1	1	2	3	2	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:30070276G>A	ENST00000201979.2	+	4	903	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	204					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCGCTGCCGAGAAGTCTCTGT	0.617													11	46					0	0	0	0	A	30070276	G	A	30070276	3	1	298	1	0	0	0	0	1	0	0	0	13304	943	33	2	620	2	REM1	20	30070276	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	22194415	30070276	32955244	277	53599											
BAGE2	85319	broad.mit.edu	37	chr21	11098776	11098776	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctaccgctcaggccgccCtcctaacactccagctgcgc	6	7	7	21	3	1	0	1	0	0	0	4	0	4	0	6	1	4	2	6	1	2	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr21:11098776C>A	ENST00000470054.1	-	0	149									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tcaggccgccctcctaacact	0.632													15	120					4.7546e-09	1.35532e-08	1	0	A	11098776	C	A	11098776	1	1	298	0	1	0	0	0	0	0	0	0	1296	696	24	4		4	BAGE2	21	11098776	RNA	SNP	C	TCGA-CV-7254-01A-11D-2012-08		11098776	37031119	278	53600											
HSF2BP	11077	broad.mit.edu	37	chr21	45050217	45050217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttactcgtgacaattccaGccagagcgaaaacaaactga	16	7	7	11	2	0	3	0	2	0	1	2	4	1	3	2	0	5	0	2	0	5	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr21:45050217G>A	ENST00000291560.2	-	6	891	c.560C>T	c.(559-561)gCt>gTt	p.A187V	HSF2BP_ENST00000542962.1_Missense_Mutation_p.A112V	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	187					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GACAATTCCAGCCAGAGCGAA	0.463													3	30					0	0	0	0	A	45050217	G	A	45050217	3	1	298	1	0	0	0	0	1	0	0	0	7447	971	34	4	460	4	HSF2BP	21	45050217	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	33951441	45050217	3079678	279	53601											
BCL2L13	23786	broad.mit.edu	37	chr22	18210216	18210216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccgctgtctgagggcaaGtctatactgctgtttggagg	7	12	14	8	1	2	1	0	1	2	0	2	2	2	2	1	3	3	4	1	3	3	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:18210216G>C	ENST00000317582.5	+	7	1721	c.1374G>C	c.(1372-1374)aaG>aaC	p.K458N	BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000538149.1_Missense_Mutation_p.K334N|BCL2L13_ENST00000337612.5_Missense_Mutation_p.K296N|BCL2L13_ENST00000543133.1_Missense_Mutation_p.K296N|BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000355028.3_3'UTR	NM_015367.2	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	458					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CTGAGGGCAAGTCTATACTGC	0.597													11	188					0	0	0	0	C	18210216	G	C	18210216	3	2	298	1	0	0	0	0	1	0	0	0	1375	1020	36	4	1396	4	BCL2L13	22	18210216	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08		18210216	33094350	280	53602											
RNF215	200312	broad.mit.edu	37	chr22	30782669	30782669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tattctcctggtggaactggGccgcctgctccttgcccacg	4	11	11	15	2	1	0	0	0	1	0	3	1	2	1	5	3	3	1	5	3	2	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:30782669G>A	ENST00000382363.3	-	2	439	c.365C>T	c.(364-366)gCc>gTc	p.A122V		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	122						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						GTGGAACTGGGCCGCCTGCTC	0.637													16	71					0	0	0	0	A	30782669	G	A	30782669	3	1	298	1	0	0	0	0	1	0	0	0	13564	1203	42	4	800	4	RNF215	22	30782669	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	12572453	30782669	20521897	281	53603											
ADSL	158	broad.mit.edu	37	chr22	40760320	40760320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaagagctgcctttcatggCcacagagaacatcatcatgg	12	8	10	11	0	3	2	3	0	0	2	3	3	3	2	2	2	3	2	2	2	2	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:40760320C>T	ENST00000216194.7	+	11	1198	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	ADSL_ENST00000342312.6_Missense_Mutation_p.A381V|ADSL_ENST00000454266.2_Missense_Mutation_p.A395V	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	381					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	p.A381V(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CCTTTCATGGCCACAGAGAAC	0.478													6	38					0	0	0	0	T	40760320	C	T	40760320	3	4	298	1	0	0	0	0	1	0	0	0	346	739	26	4	1184	4	ADSL	22	40760320	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	9977651	40760320	10544246	282	53604											
NUP50	10762	broad.mit.edu	37	chr22	45571834	45571834	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaccttctggaggaggAcgcttttctggatttggtag	6	14	15	6	1	2	0	0	0	2	0	2	4	2	4	1	6	1	3	1	6	2	6			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:45571834A>G	ENST00000347635.3	+	4	679	c.213A>G	c.(211-213)ggA>ggG	p.G71G	NUP50_ENST00000396096.2_Silent_p.G43G|NUP50_ENST00000407019.2_Silent_p.G43G|NUP50_ENST00000425733.2_Intron|NUP50_ENST00000486184.1_3'UTR	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	71	Gly-rich.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CTGGAGGAGGACGCTTTTCTG	0.493													8	112					0	0	0	0	G	45571834	A	G	45571834	2	3	298	1	0	0	0	0	0	0	0	1	10837	262	10	5		5	NUP50	22	45571834	Silent	SNP	A	TCGA-CV-7254-01A-11D-2012-08	4811514	45571834	5732732	283	53605											
CYBB	1536	broad.mit.edu	37	chrX	37651299	37651299	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatggtggcatggatgatTgcacttcactctggtaagtt	11	13	11	6	0	2	1	1	1	1	0	2	2	2	2	0	4	1	4	0	4	3	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:37651299T>C	ENST00000378588.4	+	4	391	c.324T>C	c.(322-324)atT>atC	p.I108I	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Silent_p.I76I|CYBB_ENST00000536160.1_5'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	108	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CATGGATGATTGCACTTCACT	0.383													5	12					0	0	0	0	C	37651299	T	C	37651299	2	2	298	1	0	0	0	0	0	0	0	1	4165	1800	63	5		5	CYBB	23	37651299	Silent	SNP	T	TCGA-CV-7254-01A-11D-2012-08		37651299	117619261	284	53606											
RPS6KA6	27330	broad.mit.edu	37	chrX	83411200	83411200	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttaacaactccttcatcCtgtaaaaagaaatccaaaca	17	11	2	11	0	2	1	1	0	1	1	5	1	5	1	3	0	3	1	3	0	7	4			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:83411200C>A	ENST00000262752.2	-	3	149		c.e3-1		RPS6KA6_ENST00000543399.1_Splice_Site	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6						axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTCCTTCATCCTGTAAAAAGA	0.358													5	6					0.00116845	0.00278549	1	0	A	83411200	C	A	83411200	5	1	298	1	0	0	0	0	0	0	1	0	13740	695	24	4	2176	4	RPS6KA6	23	83411200	Splice_Site	SNP	C	TCGA-CV-7254-01A-11D-2012-08	45759901	83411200	71859360	285	53607											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177580	89177580	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcccttgccaaagggcCagatgtcaagagagaagcaa	13	6	13	9	0	1	3	1	0	0	3	1	4	1	3	3	2	2	1	3	2	4	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:89177580C>A	ENST00000561129.2	+	1	626	c.496C>A	c.(496-498)Cag>Aag	p.Q166K	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.Q166K			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	166						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GCCAAAGGGCCAGATGTCAAG	0.592													11	21					6.40141e-05	0.000160738	1	0	A	89177580	C	A	89177580	3	1	298	1	0	0	0	0	1	0	0	0	15921	595	21	4	498	4	TGIF2LX	23	89177580	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	5766380	89177580	66092980	286	53608											
RBM41	55285	broad.mit.edu	37	chrX	106312633	106312633	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcttcaggtataatacCtaaaacaaattgaggatcaa	17	11	7	6	0	3	1	2	1	1	0	3	2	3	2	1	3	2	2	1	3	7	7			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:106312633C>G	ENST00000372487.1	-	6	954		c.e6-1		RBM41_ENST00000372479.3_Splice_Site	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41								nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						GGTATAATACCTAAAACAAAT	0.408													37	65					0	0	0	0	G	106312633	C	G	106312633	5	3	298	1	0	0	0	0	0	0	1	0	13217	695	24	4	331	4	RBM41	23	106312633	Splice_Site	SNP	C	TCGA-CV-7254-01A-11D-2012-08	17135053	106312633	48957927	287	53609											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C																															tcccacttcctgagcctttgINSccccccccagagttcttgcc																										TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)gaafs	p.E591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													7	330	---	---	---	---					C	107977803	-	C	107977802	7	5	298	1	0	1	1	0	0	0	0	0	7895	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-CV-7254-01A-11D-2012-08	1665169	107977802	47292758	288	53610											
DCX	1641	broad.mit.edu	37	chrX	110576307	110576307	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagagaaaaatcatcctgAgcatagcgaaatttttcagg	15	10	8	8	1	2	2	2	1	0	1	4	4	4	2	2	1	2	1	2	1	4	3			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:110576307A>T	ENST00000338081.3	-	4	1194	c.1023T>A	c.(1021-1023)gcT>gcA	p.A341A	DCX_ENST00000356220.3_Silent_p.A260A|DCX_ENST00000488120.1_Silent_p.A260A|DCX_ENST00000356915.2_Silent_p.A260A|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Silent_p.A260A	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	341	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AATCATCCTGAGCATAGCGAA	0.393													8	5					0	0	0	0	T	110576307	A	T	110576307	2	4	298	1	0	0	0	0	0	0	0	1	4350	291	11	5		5	DCX	23	110576307	Silent	SNP	A	TCGA-CV-7254-01A-11D-2012-08	2598505	110576307	44694253	289	53611											
ATP1B4	23439	broad.mit.edu	37	chrX	119509289	119509289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggggcagtacttcatcCaagatggcaatgaggatgag	11	7	13	10	1	1	3	1	2	0	1	2	4	2	4	3	4	1	3	3	4	3	2			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:119509289C>A	ENST00000218008.3	+	5	682	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K	ATP1B4_ENST00000539306.1_Missense_Mutation_p.Q166K|ATP1B4_ENST00000361319.3_Missense_Mutation_p.Q205K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	209					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						GTACTTCATCCAAGATGGCAA	0.458													109	34					2.34315e-34	7.82028e-34	1	0	A	119509289	C	A	119509289	3	1	298	1	0	0	0	0	1	0	0	0	1139	595	21	4	643	4	ATP1B4	23	119509289	Missense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	8932982	119509289	35761271	290	53612											
BCORL1	63035	broad.mit.edu	37	chrX	129154964	129154964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctacctctccacagtgccGgaagctgcccagtgaccccc	7	7	8	19	1	2	1	0	1	2	0	3	2	2	2	6	1	4	1	6	1	2	1			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:129154964G>T	ENST00000540052.1	+	4	3490	c.3446G>T	c.(3445-3447)cGg>cTg	p.R1149L	BCORL1_ENST00000359304.2_Missense_Mutation_p.R1149L|BCORL1_ENST00000218147.7_Missense_Mutation_p.R1149L|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1149L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1149					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCACAGTGCCGGAAGCTGCCC	0.552													41	16					8.01111e-26	2.61914e-25	1	0	T	129154964	G	T	129154964	3	4	298	1	0	0	0	0	1	0	0	0	1391	1116	39	3	3460	3	BCORL1	23	129154964	Missense_Mutation	SNP	G	TCGA-CV-7254-01A-11D-2012-08	9645675	129154964	26115596	291	53613											
IGSF1	3547	broad.mit.edu	37	chrX	130408088	130408088	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggccacttcttccactCtatggctagcactaccccca	8	10	6	17	1	2	0	0	0	2	0	4	1	3	0	4	2	2	2	4	2	3	5			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:130408088C>A	ENST00000370904.1	-	25	4727	c.3817G>T	c.(3817-3819)Gag>Tag	p.E1273*	IGSF1_ENST00000370910.1_Nonsense_Mutation_p.E1273*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.E1282*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.E1287*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1282					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TTCTTCCACTCTATGGCTAGC	0.502													120	84					2.28331e-34	7.65243e-34	1	0	A	130408088	C	A	130408088	4	1	298	1	0	0	0	0	0	1	0	0	7649	922	32	2	174	2	IGSF1	23	130408088	Nonsense_Mutation	SNP	C	TCGA-CV-7254-01A-11D-2012-08	1253124	130408088	24862472	292	53614											
CXorf66	347487	broad.mit.edu	37	chrX	139038574	139038574	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtctagcttacataatttTtctaggctgcctttcttatg	8	19	6	8	0	3	0	0	0	3	0	3	0	3	0	1	1	3	2	1	1	6	9			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:139038574T>C	ENST00000370540.1	-	3	590	c.567A>G	c.(565-567)gaA>gaG	p.E189E		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	189						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TACATAATTTTTCTAGGCTGC	0.413													25	125					0	0	0	0	C	139038574	T	C	139038574	2	2	298	1	0	0	0	0	0	0	0	1	4150	1838	64	5		5	CXorf66	23	139038574	Silent	SNP	T	TCGA-CV-7254-01A-11D-2012-08	8630486	139038574	16231986	293	53615											
GLTPD1	80772	broad.mit.edu	37	chr1	1262354	1262354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagtttcaagcagtgtctcGatgagaaggaagaggtcttg	11	11	13	6	1	4	2	2	1	2	2	5	5	4	3	0	2	1	2	0	2	3	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:1262354G>A	ENST00000343938.4	+	2	475	c.64G>A	c.(64-66)Gat>Aat	p.D22N	GLTPD1_ENST00000464957.1_Intron	NM_001029885.1	NP_001025056.1	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	22						cytoplasm	glycolipid binding|glycolipid transporter activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGTGTCTCGATGAGAAGGA	0.562													17	71					0	0	0	0	A	1262354	G	A	1262354	3	1	299	1	0	0	0	0	1	0	0	0	6523	1058	37	1	66	1	GLTPD1	1	1262354	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08		1262354	247988267	1	53616											
ZCCHC17	51538	broad.mit.edu	37	chr1	31837035	31837035	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcacaagaagaagcacaagGagtgagagtataaagagtgt	19	5	13	4	0	0	4	0	1	0	4	0	6	0	5	0	1	2	3	0	1	7	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:31837035G>C	ENST00000373714.1	+	8	982	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	ZCCHC17_ENST00000546109.1_Missense_Mutation_p.E233Q|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.E241Q|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.E243Q			Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	241						nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		gaagcacaagGAGTGAGAGTA	0.458													14	28					0	0	0	0	C	31837035	G	C	31837035	3	2	299	1	0	0	0	0	1	0	0	0	17680	1175	41	2	747	2	ZCCHC17	1	31837035	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	30574681	31837035	217413586	2	53617											
CSMD2	114784	broad.mit.edu	37	chr1	34082539	34082539	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagggtagttccatcgccGcactgttccgggcatgcagg	7	8	15	11	3	0	0	0	0	0	0	3	1	2	1	3	4	1	6	3	4	1	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:34082539G>C	ENST00000373381.4	-	39	6159	c.5983C>G	c.(5983-5985)Cgg>Ggg	p.R1995G	CSMD2_ENST00000373380.1_Missense_Mutation_p.R868G|CSMD2_ENST00000373388.2_Missense_Mutation_p.R94G|CSMD2_ENST00000373377.1_Missense_Mutation_p.R94G	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1955	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTCCATCGCCGCACTGTTCCG	0.527													17	88					0	0	0	0	C	34082539	G	C	34082539	3	2	299	1	0	0	0	0	1	0	0	0	3977	1086	38	3	4724	3	CSMD2	1	34082539	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	2245504	34082539	215168082	3	53618											
MACF1	23499	broad.mit.edu	37	chr1	39792914	39792914	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaaaaagagaagaaacaAatatctgagcaattgaatgc	21	7	8	5	0	2	5	1	2	1	3	2	6	2	5	0	0	3	1	0	0	8	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:39792914A>C	ENST00000564288.1	+	36	5280	c.4503A>C	c.(4501-4503)caA>caC	p.Q1501H	MACF1_ENST00000567887.1_Missense_Mutation_p.Q1538H|MACF1_ENST00000361689.2_Missense_Mutation_p.Q1506H|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.Q1506H|MACF1_ENST00000539005.1_Missense_Mutation_p.Q1506H|MACF1_ENST00000372915.3_Missense_Mutation_p.Q1506H|MACF1_ENST00000545844.1_Missense_Mutation_p.Q1506H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1506					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAGAAACAAATATCTGAGC	0.393													8	19					0	0	0	0	C	39792914	A	C	39792914	3	2	299	1	0	0	0	0	1	0	0	0	9209	11	1	5	4656	5	MACF1	1	39792914	Missense_Mutation	SNP	A	TCGA-CV-7255-01A-11D-2012-08	5710375	39792914	209457707	4	53619											
SLC2A1	6513	broad.mit.edu	37	chr1	43395563	43395564	+	Frame_Shift_Ins	INS	-	-	TCGT																															cactcttggcccggttctccINStcgttgcggttgatgagcag																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:43395563_43395564insTCGT	ENST00000426263.3	-	5	837_838	c.659_660insACGA	c.(658-660)ggafs	p.G220fs	SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	220					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCCGGTTCTCCTCGTTGCGGTT	0.653													21	134	---	---	---	---					TCGT	43395564	-	TCGT	43395563	7	5	299	1	0	1	1	0	0	0	0	0	14626	680	24	0	842	0	SLC2A1	1	43395563	Frame_Shift_Ins	INS	-	TCGA-CV-7255-01A-11D-2012-08	3602649	43395563	205855058	5	53620											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43636551	43636551	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcctgggcttggcgatagCtgagaatcgtaggacaaaat	11	8	14	8	3	0	1	0	1	0	1	1	4	0	2	1	4	1	3	1	4	5	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:43636551C>T	ENST00000431635.2	-	5	637		c.e5-1		EBNA1BP2_ENST00000236051.2_Splice_Site	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2						ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGGCGATAGCTGAGAATCGT	0.512													45	88					0	0	0	0	T	43636551	C	T	43636551	5	4	299	1	0	0	0	0	0	0	1	0	4921	811	28	4	621	4	EBNA1BP2	1	43636551	Splice_Site	SNP	C	TCGA-CV-7255-01A-11D-2012-08	240988	43636551	205614070	6	53621											
STIL	6491	broad.mit.edu	37	chr1	47726187	47726202	+	Frame_Shift_Del	DEL	TATTTAATAGGTGGTT	TATTTAATAGGTGGTT	-																															ctcagtttccttggaggaacTatttaataggtggtttactt																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:47726187_47726202delTATTTAATAGGTGGTT	ENST00000360380.3	-	17	3199_3214	c.2836_2851delAACCACCTATTAAATA	c.(2836-2853)gtfs	p.NHLLNS946fs	STIL_ENST00000243182.6_Frame_Shift_Del_p.NHLLNS946fs|STIL_ENST00000396221.2_Frame_Shift_Del_p.NHLLNS929fs|STIL_ENST00000371877.3_Frame_Shift_Del_p.NHLLNS947fs|STIL_ENST00000337817.5_Frame_Shift_Del_p.NHLLNS946fs			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	946					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTGGAGGAACTATTTAATAGGTGGTTTACTTGACCC	0.37													26	120	---	---	---	---					-	47726202	TATTTAATAGGTGGTT	-	47726187	7	5	299	1	0	1	0	1	0	0	0	0	15372	1522	53	0	1020	0	STIL	1	47726187	Frame_Shift_Del	DEL	TATTTAATAGGTGGTT	TCGA-CV-7255-01A-11D-2012-08	4089636	47726187	201524434	7	53622											
DNTTIP2	30836	broad.mit.edu	37	chr1	94342296	94342296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgtggactcttcttcatCatcactaccaccacaatcac	12	11	3	15	0	6	0	4	0	2	0	6	1	6	1	2	1	2	0	2	1	3	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:94342296C>T	ENST00000436063.2	-	2	1252	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TCTTCTTCATCATCACTACCA	0.403													53	249					0	0	0	0	T	94342296	C	T	94342296	3	4	299	1	0	0	0	0	1	0	0	0	4718	826	29	2	1099	2	DNTTIP2	1	94342296	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	46616109	94342296	154908325	8	53623											
OVGP1	5016	broad.mit.edu	37	chr1	111969225	111969225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggcctggccgactgtgtgCccagttggtgaaataacaca	10	8	13	10	1	0	1	0	1	0	0	0	2	0	1	3	3	2	1	3	3	2	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:111969225C>A	ENST00000369732.3	-	3	149	c.94G>T	c.(94-96)Gca>Tca	p.A32S	OVGP1_ENST00000540696.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	32					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CGACTGTGTGCCCAGTTGGTG	0.532													9	28					9.70103e-10	1.31433e-09	1	0	A	111969225	C	A	111969225	3	1	299	1	0	0	0	0	1	0	0	0	11396	739	26	4	1978	4	OVGP1	1	111969225	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	17626929	111969225	137281396	9	53624											
TRIM45	80263	broad.mit.edu	37	chr1	117663359	117663359	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagcctggcagcagaagtgGcagaggttggctttgcaggt	8	9	17	7	0	0	3	0	1	0	2	0	3	0	3	1	5	3	6	1	5	1	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:117663359G>A	ENST00000256649.4	-	1	991	c.465C>T	c.(463-465)tgC>tgT	p.C155C	TRIM45_ENST00000369461.3_Silent_p.C98C|TRIM45_ENST00000369464.3_Silent_p.C155C	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	155						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		AGCAGAAGTGGCAGAGGTTGG	0.542													22	72					0	0	0	0	A	117663359	G	A	117663359	2	1	299	1	0	0	0	0	0	0	0	1	16615	1195	42	4		4	TRIM45	1	117663359	Silent	SNP	G	TCGA-CV-7255-01A-11D-2012-08	5694134	117663359	131587262	10	53625											
FLG	2312	broad.mit.edu	37	chr1	152277569	152277569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcggtctgcagagtgccCgtgaccggctctgtcttcgt	4	10	15	12	4	3	2	0	1	3	1	4	3	3	3	2	3	3	2	2	3	0	1	rs144217264		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:152277569C>T	ENST00000368799.1	-	3	9828	c.9793G>A	c.(9793-9795)Ggg>Agg	p.G3265R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3265	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGAGTGCCCGTGACCGGCT	0.582									Ichthyosis				219	333					0	0	0	0	T	152277569	C	T	152277569	3	4	299	1	0	0	0	0	1	0	0	0	5967	652	23	1	2396	1	FLG	1	152277569	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	34614210	152277569	96973052	11	53626											
TNN	63923	broad.mit.edu	37	chr1	175116091	175116091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaactgggagccttggaaaGgacatgaattctccattcct	11	11	10	9	0	1	2	0	2	1	0	3	5	2	5	3	3	2	0	3	3	3	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:175116091G>A	ENST00000239462.4	+	19	3897	c.3784G>A	c.(3784-3786)Gga>Aga	p.G1262R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1262	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTTGGAAAGGACATGAATT	0.507											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	58					0	0	0	0	A	175116091	G	A	175116091	3	1	299	1	0	0	0	0	1	0	0	0	16417	1001	35	4	3854	4	TNN	1	175116091	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	22838522	175116091	74134530	12	53627											
SIPA1L2	57568	broad.mit.edu	37	chr1	232626732	232626732	+	Missense_Mutation	SNP	G	G	A																															attccaaaacttctttgagaGgtagtcctcgtgcggtacca																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:232626732G>A	ENST00000366630.1	-	4	2052	c.1694C>T	c.(1693-1695)cCt>cTt	p.P565L	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P565L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	565					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCTTTGAGAGGTAGTCCTCG	0.468													12	62					0	0	0	0	A	232626732	G	A	232626732	3	1	299	1	0	0	0	0	1	0	0	0	14418	1000	35	4	3550	4	SIPA1L2	1	232626732	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	57510641	232626732	16623889	13	53628	424	2									
SIPA1L2	57568	broad.mit.edu	37	chr1	232626733	232626733	+	Missense_Mutation	SNP	G	G	T																															ttccaaaacttctttgagagGtagtcctcgtgcggtaccat																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:232626733G>T	ENST00000366630.1	-	4	2051	c.1693C>A	c.(1693-1695)Cct>Act	p.P565T	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P565T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	565					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCTTTGAGAGGTAGTCCTCGT	0.473													12	61					1.08611e-07	1.38232e-07	1	0	T	232626733	G	T	232626733	3	4	299	1	0	0	0	0	1	0	0	0	14418	1261	44	4	3551	4	SIPA1L2	1	232626733	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	1	232626733	16623888	14	53629	424	2									
GREB1	9687	broad.mit.edu	37	chr2	11767141	11767141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcggcgtcagacggcaCggatgagactgtccaagtac	10	7	14	10	4	1	2	1	1	0	2	2	4	2	3	1	3	2	2	1	3	2	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:11767141C>T	ENST00000381486.2	+	25	4660	c.4360C>T	c.(4360-4362)Cgg>Tgg	p.R1454W	GREB1_ENST00000396123.1_Missense_Mutation_p.R452W|GREB1_ENST00000234142.5_Missense_Mutation_p.R1454W	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1454						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCAGACGGCACGGATGAGACT	0.572													8	42					0	0	0	0	T	11767141	C	T	11767141	3	4	299	1	0	0	0	0	1	0	0	0	6810	527	19	1	4562	1	GREB1	2	11767141	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08		11767141	231432232	15	53630											
ATAD2B	54454	broad.mit.edu	37	chr2	24009046	24009046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctgattctgataattgacGaggtggagaaggtagtgcaa	12	12	13	4	1	2	4	0	3	2	1	2	6	2	4	0	3	1	2	0	3	4	5			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:24009046G>A	ENST00000238789.5	-	21	3167	c.2824C>T	c.(2824-2826)Cgt>Tgt	p.R942C	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	942							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATAATTGACGAGGTGGAGAA	0.453													3	8					0	0	0	0	A	24009046	G	A	24009046	3	1	299	1	0	0	0	0	1	0	0	0	1076	1058	37	1	1584	1	ATAD2B	2	24009046	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	12241905	24009046	219190327	16	53631											
CLEC4F	165530	broad.mit.edu	37	chr2	71044191	71044202	+	In_Frame_Del	DEL	TAAATGTCTGGA	TAAATGTCTGGA	-																															ggaattctccatgtggccttTaaatgtctggataagctctc																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:71044191_71044202delTAAATGTCTGGA	ENST00000272367.2	-	4	387_398	c.311_322delTCCAGACATTTA	c.(310-324)aaa>a	p.IQTFK104del	CLEC4F_ENST00000426626.1_In_Frame_Del_p.IQTFK104del	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	104					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						ATGTGGCCTTTAAATGTCTGGATAAGCTCTCG	0.491													7	51	---	---	---	---					-	71044202	TAAATGTCTGGA	-	71044191	7	5	299	1	0	1	0	1	0	0	0	0	3546	1763	61	0	1463	0	CLEC4F	2	71044191	In_Frame_Del	DEL	TAAATGTCTGGA	TCGA-CV-7255-01A-11D-2012-08	47035145	71044191	172155182	17	53632											
LRP2	4036	broad.mit.edu	37	chr2	170055331	170055331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcactgttatctccaCagtcattgtctccgtcacac	8	15	4	14	1	6	0	4	0	2	0	8	0	6	0	2	0	0	1	2	0	1	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:170055331C>T	ENST00000263816.3	-	45	8828	c.8543G>A	c.(8542-8544)tGt>tAt	p.C2848Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2848	LDL-receptor class A 19.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTTATCTCCACAGTCATTGTC	0.378													8	20					0	0	0	0	T	170055331	C	T	170055331	3	4	299	1	0	0	0	0	1	0	0	0	9020	478	17	4	5564	4	LRP2	2	170055331	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	99011140	170055331	73144042	18	53633											
MYO3B	140469	broad.mit.edu	37	chr2	171055899	171055899	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaattctggatccagtcAgtgtaagtaacagttgtaaa	15	12	9	5	0	2	1	1	1	1	0	3	2	3	2	1	1	1	4	1	1	6	5			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:171055899A>T	ENST00000334231.6	+	2	211	c.211A>T	c.(211-213)Agt>Tgt	p.S71C	MYO3B_ENST00000408978.4_Missense_Mutation_p.S62C|MYO3B_ENST00000409044.3_Missense_Mutation_p.S62C|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	62	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGATCCAGTCAGTGTAAGTAA	0.363													3	14					0	0	0	0	T	171055899	A	T	171055899	3	4	299	1	0	0	0	0	1	0	0	0	10147	188	7	5	190	5	MYO3B	2	171055899	Missense_Mutation	SNP	A	TCGA-CV-7255-01A-11D-2012-08	1000568	171055899	72143474	19	53634											
TTN	7273	broad.mit.edu	37	chr2	179569648	179569648	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataaatgatacaagttcctCaaattccttttcgtccctct	12	15	3	11	1	2	1	1	1	1	0	6	1	5	1	3	0	1	1	3	0	6	6			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:179569648C>G	ENST00000589042.1	-	104	29874	c.29650G>C	c.(29650-29652)Gag>Cag	p.E9884Q	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8640Q|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9567Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9567	Pro-rich.						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)			ACAAGTTCCTCAAATTCCTTT	0.308													33	95					0	0	0	0	G	179569648	C	G	179569648	3	3	299	1	0	0	0	0	1	0	0	0	16831	835	29	2	74915	2	TTN	2	179569648	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	8513749	179569648	63629725	20	53635											
TTN	7273	broad.mit.edu	37	chr2	179595244	179595244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaacctttgactgtcaGatgcccactgcattggttgt	7	14	9	11	0	1	2	1	1	0	1	1	2	1	2	3	1	4	2	3	1	1	4			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:179595244G>T	ENST00000589042.1	-	61	18240	c.18016C>A	c.(18016-18018)Ctg>Atg	p.L6006M	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L4762M|TTN_ENST00000591111.1_Missense_Mutation_p.L5689M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5689	Ig-like 41.						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)			TTGACTGTCAGATGCCCACTG	0.378													29	86					1.22384e-17	1.69921e-17	1	0	T	179595244	G	T	179595244	3	4	299	1	0	0	0	0	1	0	0	0	16831	933	33	2	86721	2	TTN	2	179595244	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	25596	179595244	63604129	21	53636											
ITGAV	3685	broad.mit.edu	37	chr2	187506226	187506226	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcttcaggagacttccAgacgacaaagctgaatggat	14	7	12	8	1	1	4	1	1	0	3	2	8	2	5	1	2	2	2	1	2	2	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:187506226A>T	ENST00000261023.3	+	12	1344	c.1070A>T	c.(1069-1071)cAg>cTg	p.Q357L	ITGAV_ENST00000433736.2_Missense_Mutation_p.Q311L|ITGAV_ENST00000374907.3_Missense_Mutation_p.Q321L|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	357					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GGAGACTTCCAGACGACAAAG	0.493													52	141					0	0	0	0	T	187506226	A	T	187506226	3	4	299	1	0	0	0	0	1	0	0	0	7941	188	7	5	1167	5	ITGAV	2	187506226	Missense_Mutation	SNP	A	TCGA-CV-7255-01A-11D-2012-08	7910982	187506226	55693147	22	53637											
DUSP28	285193	broad.mit.edu	37	chr2	241500794	241500794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaccgaacccgggcttctgGtctcagctccagaagtatga	10	8	11	12	2	2	2	1	1	2	1	4	4	3	2	3	2	3	3	3	2	4	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:241500794G>T	ENST00000405954.1	+	2	824	c.441G>T	c.(439-441)tgG>tgT	p.W147C	DUSP28_ENST00000343217.2_Missense_Mutation_p.W147C			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	147							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			lung(2)|upper_aerodigestive_tract(1)	3		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		CGGGCTTCTGGTCTCAGCTCC	0.602													14	45					3.27435e-08	4.23147e-08	1	0	T	241500794	G	T	241500794	3	4	299	1	0	0	0	0	1	0	0	0	4861	1270	44	4	447	4	DUSP28	2	241500794	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	53994568	241500794	1698579	23	53638											
DPPA2	151871	broad.mit.edu	37	chr3	109027049	109027049	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctctctcattcatctcaTaacttctctgaagccttgct	7	16	4	14	0	5	1	3	1	3	0	8	1	5	1	1	0	4	2	1	0	2	4			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr3:109027049T>C	ENST00000478945.1	-	6	734	c.488A>G	c.(487-489)tAt>tGt	p.Y163C		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	163						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTCATCTCATAACTTCTCTG	0.468													19	71					0	0	0	0	C	109027049	T	C	109027049	3	2	299	1	0	0	0	0	1	0	0	0	4770	1406	49	5	420	5	DPPA2	3	109027049	Missense_Mutation	SNP	T	TCGA-CV-7255-01A-11D-2012-08		109027049	88995381	24	53639											
WDR49	151790	broad.mit.edu	37	chr3	167223119	167223119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttttttataacttcacCataataaggtttttgtgttt	10	22	5	4	0	1	1	1	1	0	0	1	1	1	1	1	1	1	2	1	1	4	11			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr3:167223119C>T	ENST00000308378.3	-	13	2109	c.1804G>A	c.(1804-1806)Ggt>Agt	p.G602S	WDR49_ENST00000453925.2_Missense_Mutation_p.G567S|WDR49_ENST00000476376.1_Missense_Mutation_p.G427S|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	602										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATAACTTCACCATAATAAGGT	0.259													4	24					0	0	0	0	T	167223119	C	T	167223119	3	4	299	1	0	0	0	0	1	0	0	0	17398	594	21	4	301	4	WDR49	3	167223119	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	58196070	167223119	30799311	25	53640											
HTT	3064	broad.mit.edu	37	chr4	3131671	3131671	+	Missense_Mutation	SNP	C	C	A																															gtgttagacggtaccgacaaCcagtatttgggcctgcagat																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:3131671C>A	ENST00000355072.5	+	13	1909	c.1764C>A	c.(1762-1764)aaC>aaA	p.N588K		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	588		Cleavage; by apopain (Potential).			establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.N588K(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTACCGACAACCAGTATTTGG	0.507													11	145					1.58986e-06	1.9785e-06	1	0	A	3131671	C	A	3131671	3	1	299	1	0	0	0	0	1	0	0	0	7510	506	18	4	1814	4	HTT	4	3131671	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08		3131671	188022605	26	53641	425	2									
HTT	3064	broad.mit.edu	37	chr4	3131672	3131672	+	Missense_Mutation	SNP	C	C	G																															tgttagacggtaccgacaacCagtatttgggcctgcagatt																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:3131672C>G	ENST00000355072.5	+	13	1910	c.1765C>G	c.(1765-1767)Cag>Gag	p.Q589E		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	589					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TACCGACAACCAGTATTTGGG	0.507													11	144					0	0	0	0	G	3131672	C	G	3131672	3	3	299	1	0	0	0	0	1	0	0	0	7510	595	21	4	1815	4	HTT	4	3131672	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	1	3131672	188022604	27	53642	425	2									
SORCS2	57537	broad.mit.edu	37	chr4	7735048	7735048	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcccctctgtgcttgcaGaggctcgccgccatccagca	5	9	10	17	2	1	1	0	0	1	1	4	1	3	1	5	1	3	4	5	1	0	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:7735048G>A	ENST00000507866.2	+	24	3217		c.e24-1		SORCS2_ENST00000329016.9_Splice_Site	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2							integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTGCTTGCAGAGGCTCGCCG	0.652													2	2					0	0	0	0	A	7735048	G	A	7735048	5	1	299	1	0	0	0	0	0	0	1	0	15019	956	33	2	3202	2	SORCS2	4	7735048	Splice_Site	SNP	G	TCGA-CV-7255-01A-11D-2012-08	4603376	7735048	183419228	28	53643											
ZNF827	152485	broad.mit.edu	37	chr4	146824264	146824264	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacaacttatagttctcCtggacttccccataggatgc	11	11	8	11	0	1	1	0	0	1	1	3	4	2	3	3	2	2	1	3	2	4	5			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:146824264C>T	ENST00000508784.1	-	2	374	c.147G>A	c.(145-147)caG>caA	p.Q49Q	ZNF827_ENST00000379448.4_Silent_p.Q49Q|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TATAGTTCTCCTGGACTTCCC	0.562													29	78					0	0	0	0	T	146824264	C	T	146824264	2	4	299	1	0	0	0	0	0	0	0	1	18273	680	24	4		4	ZNF827	4	146824264	Silent	SNP	C	TCGA-CV-7255-01A-11D-2012-08	139089216	146824264	44330012	29	53644											
MYO10	4651	broad.mit.edu	37	chr5	16701457	16701457	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccacttgttcgctggtctGagtggccgtgctcgctgggg	2	12	16	11	3	1	1	0	1	1	0	3	1	1	1	2	4	2	4	2	4	0	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:16701457G>C	ENST00000513610.1	-	25	3501	c.3047C>G	c.(3046-3048)tCa>tGa	p.S1016*	MYO10_ENST00000427430.2_Nonsense_Mutation_p.S373*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.S373*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.S355*|MYO10_ENST00000505695.1_Nonsense_Mutation_p.S355*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1016					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCGCTGGTCTGAGTGGCCGTG	0.627													13	34					0	0	0	0	C	16701457	G	C	16701457	4	2	299	1	0	0	0	0	0	1	0	0	10132	1294	45	2	3197	2	MYO10	5	16701457	Nonsense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08		16701457	164213803	30	53645											
C6	729	broad.mit.edu	37	chr5	41159257	41159257	+	Frame_Shift_Del	DEL	G	G	-																															acagcgtttccctcctcgttGgggggcaggattattgcatt																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:41159257delG	ENST00000263413.3	-	12	2047	c.1783delC	c.(1783-1785)aafs	p.Q595fs	C6_ENST00000337836.5_Frame_Shift_Del_p.Q595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCTCCTCGTTGGGGGGCAGGA	0.498													22	114	---	---	---	---					-	41159257	G	-	41159257	7	5	299	1	0	1	0	1	0	0	0	0	2336	1357	47	0	1049	0	C6	5	41159257	Frame_Shift_Del	DEL	G	TCGA-CV-7255-01A-11D-2012-08	24457800	41159257	139756003	31	53646											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834432	101834432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcccgggcttcgaggacttCggggttcccttggccctcct	2	12	12	15	3	0	0	0	0	0	0	5	2	3	1	4	5	0	2	4	5	0	5			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:101834432C>T	ENST00000506729.1	-	1	288	c.117G>A	c.(115-117)ccG>ccA	p.P39P	SLCO6A1_ENST00000389019.3_Silent_p.P39P|SLCO6A1_ENST00000379807.3_Silent_p.P39P|SLCO6A1_ENST00000379810.1_Silent_p.P39P|SLCO6A1_ENST00000513675.1_Silent_p.P39P			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	39						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCGAGGACTTCGGGGTTCCCT	0.592													104	57					0	0	0	0	T	101834432	C	T	101834432	2	4	299	1	0	0	0	0	0	0	0	1	14820	871	31	1		1	SLCO6A1	5	101834432	Silent	SNP	C	TCGA-CV-7255-01A-11D-2012-08	60675175	101834432	79080828	32	53647											
IL9	3578	broad.mit.edu	37	chr5	135231263	135231263	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattagcactgcagtggcacTtggaagctggatcttcctaa	10	11	10	10	0	1	0	0	0	1	0	2	2	2	2	1	3	3	4	1	3	3	4			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:135231263T>G	ENST00000274520.1	-	2	141	c.131A>C	c.(130-132)aAg>aCg	p.K44T		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	44					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGTGGCACTTGGAAGCTGG	0.378													18	79					0	0	0	0	G	135231263	T	G	135231263	3	3	299	1	0	0	0	0	1	0	0	0	7760	1609	56	5	319	5	IL9	5	135231263	Missense_Mutation	SNP	T	TCGA-CV-7255-01A-11D-2012-08	33396831	135231263	45683997	33	53648											
KDM3B	51780	broad.mit.edu	37	chr5	137727094	137727097	+	Frame_Shift_Del	DEL	GAAA	GAAA	-																															gctggcagctctgtggaccgGaaagtgcctgcagagtccat																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:137727094_137727097delGAAA	ENST00000314358.5	+	8	1973_1976	c.1773_1776delGAAA	c.(1771-1776)cgfs	p.RK591fs	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Frame_Shift_Del_p.RK247fs	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	591					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTGTGGACCGGAAAGTGCCTGCAG	0.544													18	85	---	---	---	---					-	137727097	GAAA	-	137727094	7	5	299	1	0	1	0	1	0	0	0	0	8180	1161	41	0	1803	0	KDM3B	5	137727094	Frame_Shift_Del	DEL	GAAA	TCGA-CV-7255-01A-11D-2012-08	2495831	137727094	43188166	34	53649											
GRIA1	2890	broad.mit.edu	37	chr5	153026582	153026582	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttgtggggccctccaCgtctgcttcattacgccgag	4	13	10	14	3	2	0	1	0	1	0	4	1	4	0	4	2	2	1	4	2	1	4	rs138090704		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:153026582C>T	ENST00000285900.5	+	3	658	c.315C>T	c.(313-315)caC>caT	p.H105H	GRIA1_ENST00000340592.5_Silent_p.H105H|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Silent_p.H115H|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Silent_p.H36H|GRIA1_ENST00000448073.4_Silent_p.H115H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	105					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGGCCCTCCACGTCTGCTTCA	0.502													47	55					0	0	0	0	T	153026582	C	T	153026582	2	4	299	1	0	0	0	0	0	0	0	1	6817	535	19	1		1	GRIA1	5	153026582	Silent	SNP	C	TCGA-CV-7255-01A-11D-2012-08	15299488	153026582	27888678	35	53650											
IL12B	3593	broad.mit.edu	37	chr5	158749490	158749490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagaataattcttggcctCgcatcttagaaaggtcttat	11	14	7	9	1	3	2	0	0	3	2	5	2	4	2	2	2	0	1	2	2	5	5	rs139186048		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:158749490C>T	ENST00000231228.2	-	4	849	c.394G>A	c.(394-396)Gag>Aag	p.E132K		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	132					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTTGGCCTCGCATCTTAGA	0.378													14	40					0	0	0	0	T	158749490	C	T	158749490	3	4	299	1	0	0	0	0	1	0	0	0	7678	893	31	1	608	1	IL12B	5	158749490	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	5722908	158749490	22165770	36	53651											
UNC5A	90249	broad.mit.edu	37	chr5	176301345	176301345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagtctctgtccccggcagGatgggcccagccccaagttc	6	7	12	16	1	1	0	0	0	1	0	4	1	2	1	5	3	1	3	5	3	1	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:176301345G>T	ENST00000329542.4	+	8	1430	c.1156G>T	c.(1156-1158)Gat>Tat	p.D386Y	UNC5A_ENST00000261961.3_Missense_Mutation_p.D346Y	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	386					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCGGCAGGATGGGCCCAG	0.647													39	158					1.36161e-19	1.90626e-19	1	0	T	176301345	G	T	176301345	3	4	299	1	0	0	0	0	1	0	0	0	17087	1174	41	2	1186	2	UNC5A	5	176301345	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	17551855	176301345	4613915	37	53652											
HIST1H2AB	8335	broad.mit.edu	37	chr6	26033684	26033684	+	Missense_Mutation	SNP	C	C	A																															cgacgcgctcggagtagttgCctttgcggagcaggcggtgc																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:26033684C>A	ENST00000259791.2	-	1	112	c.113G>T	c.(112-114)gGc>gTc	p.G38V		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	38				GN -> AH (in Ref. 1; CAA24951).	nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGAGTAGTTGCCTTTGCGGAG	0.652													14	93					3.27435e-08	4.23147e-08	1	0	A	26033684	C	A	26033684	3	1	299	1	0	0	0	0	1	0	0	0	7179	739	26	4	283	4	HIST1H2AB	6	26033684	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08		26033684	145081383	38	53653	426	2									
HIST1H2AB	8335	broad.mit.edu	37	chr6	26033685	26033685	+	Missense_Mutation	SNP	C	C	A																															gacgcgctcggagtagttgcCtttgcggagcaggcggtgca																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:26033685C>A	ENST00000259791.2	-	1	111	c.112G>T	c.(112-114)Ggc>Tgc	p.G38C		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	38				GN -> AH (in Ref. 1; CAA24951).	nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GAGTAGTTGCCTTTGCGGAGC	0.652													13	93					1.5842e-08	2.07926e-08	1	0	A	26033685	C	A	26033685	3	1	299	1	0	0	0	0	1	0	0	0	7179	681	24	4	284	4	HIST1H2AB	6	26033685	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	1	26033685	145081382	39	53654	426	2									
HIST1H4I	8294	broad.mit.edu	37	chr6	27107126	27107126	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggtaagggcctggggaaAgggggtgccaagcgccaccg	9	3	20	9	2	0	0	0	0	0	0	0	2	0	2	4	7	2	1	4	7	3	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:27107126A>C	ENST00000354348.2	+	1	51	c.39A>C	c.(37-39)aaA>aaC	p.K13N	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	13					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						GCCTGGGGAAAGGGGGTGCCA	0.597			T	BCL6	NHL								19	51					0	0	0	0	C	27107126	A	C	27107126	3	2	299	1	0	0	0	0	1	0	0	0	7223	69	3	5	41	5	HIST1H4I	6	27107126	Missense_Mutation	SNP	A	TCGA-CV-7255-01A-11D-2012-08	1073441	27107126	144007941	40	53655											
HLA-B	3106	broad.mit.edu	37	chr6	31323330	31323330	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagggtggcctcatggTcagagatggggtggtgggtc	6	9	18	8	0	3	1	3	0	0	1	4	2	3	1	2	7	0	0	2	7	0	0			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:31323330T>G	ENST00000412585.2	-	4	687	c.659A>C	c.(658-660)gAc>gCc	p.D220A		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGCCTCATGGTCAGAGATGGG	0.582									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				27	175					0	0	0	0	G	31323330	T	G	31323330	3	3	299	1	0	0	0	0	1	0	0	0	7246	1667	58	5	445	5	HLA-B	6	31323330	Missense_Mutation	SNP	T	TCGA-CV-7255-01A-11D-2012-08	4216204	31323330	139791737	41	53656											
AGPAT1	10554	broad.mit.edu	37	chr6	32138309	32138309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagcaggccagcccggCagagccagcccacagtagct	10	2	12	17	1	0	1	0	0	0	1	0	1	0	1	5	2	6	4	5	2	1	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:32138309C>T	ENST00000395499.1	-	4	982	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	AGPAT1_ENST00000395497.1_Missense_Mutation_p.A135T|AGPAT1_ENST00000395496.1_Missense_Mutation_p.A135T|AGPAT1_ENST00000412465.2_Missense_Mutation_p.A23T|AGPAT1_ENST00000490711.1_Intron|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Missense_Mutation_p.A135T|AGPAT1_ENST00000375107.3_Missense_Mutation_p.A135T|AGPAT1_ENST00000336984.6_Missense_Mutation_p.A135T			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	135					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GCCAGCCCGGCAGAGCCAGCC	0.652													15	107					0	0	0	0	T	32138309	C	T	32138309	3	4	299	1	0	0	0	0	1	0	0	0	386	710	25	4	464	4	AGPAT1	6	32138309	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	814979	32138309	138976758	42	53657											
AGER	177	broad.mit.edu	37	chr6	32150719	32150719	+	Missense_Mutation	SNP	G	G	T																															gacggggatctcctccccggGctggggtcaccattagctcc																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:32150719G>T	ENST00000375076.4	-	6	691	c.590C>A	c.(589-591)gCc>gAc	p.A197D	AGER_ENST00000438221.2_Missense_Mutation_p.A213D|AGER_ENST00000375055.2_Missense_Mutation_p.A197D|AGER_ENST00000375070.3_Missense_Mutation_p.A228D|AGER_ENST00000375067.3_Missense_Mutation_p.A183D|AGER_ENST00000375065.5_Intron|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375069.3_Missense_Mutation_p.A96D	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	197	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCTCCCCGGGCTGGGGTCAC	0.617													11	94					1.5739e-10	2.14971e-10	1	0	T	32150719	G	T	32150719	3	4	299	1	0	0	0	0	1	0	0	0	379	1203	42	4	677	4	AGER	6	32150719	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	12410	32150719	138964348	43	53658	427	3									
AGER	177	broad.mit.edu	37	chr6	32150720	32150720	+	Missense_Mutation	SNP	C	C	T																															acggggatctcctccccgggCtggggtcaccattagctccg																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:32150720C>T	ENST00000375076.4	-	6	690	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	AGER_ENST00000438221.2_Missense_Mutation_p.A213T|AGER_ENST00000375055.2_Missense_Mutation_p.A197T|AGER_ENST00000375070.3_Missense_Mutation_p.A228T|AGER_ENST00000375067.3_Missense_Mutation_p.A183T|AGER_ENST00000375065.5_Intron|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375069.3_Missense_Mutation_p.A96T	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	197	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						CCTCCCCGGGCTGGGGTCACC	0.617													11	96					0	0	0	0	T	32150720	C	T	32150720	3	4	299	1	0	0	0	0	1	0	0	0	379	797	28	4	678	4	AGER	6	32150720	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	1	32150720	138964347	44	53659	427	3									
AGER	177	broad.mit.edu	37	chr6	32150723	32150723	+	Missense_Mutation	SNP	G	G	C																															gggatctcctccccgggctgGggtcaccattagctccgact																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:32150723G>C	ENST00000375076.4	-	6	687	c.586C>G	c.(586-588)Cca>Gca	p.P196A	AGER_ENST00000438221.2_Missense_Mutation_p.P212A|AGER_ENST00000375055.2_Missense_Mutation_p.P196A|AGER_ENST00000375070.3_Missense_Mutation_p.P227A|AGER_ENST00000375067.3_Missense_Mutation_p.P182A|AGER_ENST00000375065.5_Intron|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375069.3_Missense_Mutation_p.P95A	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	196	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						CCCCGGGCTGGGGTCACCATT	0.607													10	94					0	0	0	0	C	32150723	G	C	32150723	3	2	299	1	0	0	0	0	1	0	0	0	379	1232	43	4	681	4	AGER	6	32150723	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	3	32150723	138964344	45	53660	427	3									
LAMA4	3910	broad.mit.edu	37	chr6	112537594	112537594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtatcctgagccgtccaaaCactcgttggaattgccatta	11	11	8	11	2	0	1	0	1	0	0	3	2	2	2	4	1	3	2	4	1	4	4			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:112537594C>A	ENST00000230538.7	-	3	669	c.272G>T	c.(271-273)tGt>tTt	p.C91F	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000522006.1_Missense_Mutation_p.C91F|LAMA4_ENST00000424408.2_Missense_Mutation_p.C91F|LAMA4_ENST00000389463.4_Missense_Mutation_p.C91F|LAMA4_ENST00000431543.2_Missense_Mutation_p.C91F	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	91	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCGTCCAAACACTCGTTGGA	0.458													8	56					7.48243e-07	9.38096e-07	1	0	A	112537594	C	A	112537594	3	1	299	1	0	0	0	0	1	0	0	0	8661	478	17	4	5347	4	LAMA4	6	112537594	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	80386871	112537594	58577473	46	53661											
RFX6	222546	broad.mit.edu	37	chr6	117250042	117250042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagtgacatccacgatcCacttaacattttagatgaca	14	11	5	11	1	0	3	0	2	0	1	2	4	2	3	2	0	2	0	2	0	3	4			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:117250042C>T	ENST00000332958.2	+	18	2535	c.2519C>T	c.(2518-2520)cCa>cTa	p.P840L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	840					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ATCCACGATCCACTTAACATT	0.463													24	99					0	0	0	0	T	117250042	C	T	117250042	3	4	299	1	0	0	0	0	1	0	0	0	13349	594	21	4	2589	4	RFX6	6	117250042	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	4712448	117250042	53865025	47	53662											
FKBP14	55033	broad.mit.edu	37	chr7	30058665	30058665	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatttcttggaatgattCatgggatcttggtccatttc	8	17	8	8	0	3	1	1	1	2	0	6	3	5	3	2	3	0	0	2	3	1	5			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:30058665C>A	ENST00000222803.5	-	3	599	c.424G>T	c.(424-426)Gaa>Taa	p.E142*	AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	142	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						TGGAATGATTCATGGGATCTT	0.393													15	69					6.31663e-08	8.10071e-08	1	0	A	30058665	C	A	30058665	4	1	299	1	0	0	0	0	0	1	0	0	5949	835	29	2	219	2	FKBP14	7	30058665	Nonsense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08		30058665	129079998	48	53663											
GTF2IRD2	84163	broad.mit.edu	37	chr7	74211326	74211327	+	Frame_Shift_Ins	INS	-	-	T																															agtcagttcgctttcgtagaINSgtttgaaatcagacagcctt																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:74211326_74211327insT	ENST00000405086.2	-	16	2713_2714	c.2524_2525insA	c.(2524-2526)ctafs	p.L842fs	GTF2IRD2_ENST00000451013.2_Frame_Shift_Ins_p.L389fs	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						gctttcgtagagtttgaaatca	0.49													12	65	---	---	---	---					T	74211327	-	T	74211326	7	5	299	1	0	1	1	0	0	0	0	0	6919	304	11	0	328	0	GTF2IRD2	7	74211326	Frame_Shift_Ins	INS	-	TCGA-CV-7255-01A-11D-2012-08	44152661	74211326	84927337	49	53664											
PPP1R9A	55607	broad.mit.edu	37	chr7	94827740	94827740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacactggaacaggagaggCgccagagagagctgctggaa	14	3	16	8	1	0	4	0	0	0	4	0	8	0	6	1	4	3	2	1	4	2	0			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:94827740C>T	ENST00000289495.5	+	5	2050	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.R612C|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R612C|AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R612C|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R612C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R612C	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	612	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAGGAGAGGCGCCAGAGAGA	0.478										HNSCC(28;0.073)			23	126					0	0	0	0	T	94827740	C	T	94827740	3	4	299	1	0	0	0	0	1	0	0	0	12454	768	27	1	1852	1	PPP1R9A	7	94827740	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	20616414	94827740	64310923	50	53665											
TFR2	7036	broad.mit.edu	37	chr7	100238307	100238307	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggggcagggccatccctAcctgatggtgtcctccaggc	6	8	14	13	0	0	1	0	1	0	0	3	2	3	1	5	5	1	1	5	5	1	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:100238307A>G	ENST00000462107.1	-	4	761		c.e4+1		TFR2_ENST00000223051.3_Splice_Site|TFR2_ENST00000431692.1_Splice_Site			Q9UP52	TFR2_HUMAN	transferrin receptor 2						cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCCATCCCTACCTGATGGTG	0.657													5	17					0	0	0	0	G	100238307	A	G	100238307	5	3	299	1	0	0	0	0	0	0	1	0	15905	405	14	5	1994	5	TFR2	7	100238307	Splice_Site	SNP	A	TCGA-CV-7255-01A-11D-2012-08	5410567	100238307	58900356	51	53666											
TNPO3	23534	broad.mit.edu	37	chr7	128640537	128640537	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctccagagttcgaaggtcCccaagaccttggcctggagt	9	8	12	12	1	0	2	0	0	0	2	3	4	2	3	5	3	1	2	5	3	2	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:128640537C>T	ENST00000393245.1	-	7	1330	c.957G>A	c.(955-957)ggG>ggA	p.G319G	TNPO3_ENST00000471234.1_Silent_p.G319G|TNPO3_ENST00000471166.1_Silent_p.G319G|TNPO3_ENST00000482320.1_Silent_p.G253G|TNPO3_ENST00000265388.5_Silent_p.G319G	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	319					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TTCGAAGGTCCCCAAGACCTT	0.433													16	76					0	0	0	0	T	128640537	C	T	128640537	2	4	299	1	0	0	0	0	0	0	0	1	16431	610	22	4		4	TNPO3	7	128640537	Silent	SNP	C	TCGA-CV-7255-01A-11D-2012-08	28402230	128640537	30498126	52	53667											
ZNF425	155054	broad.mit.edu	37	chr7	148802572	148802572	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaaatctttctctcttTccctcgtaaggcagcacaca	12	13	4	12	1	3	0	0	0	3	0	6	0	4	0	1	1	1	3	1	1	4	5			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:148802572T>C	ENST00000378061.2	-	4	523	c.391A>G	c.(391-393)Aaa>Gaa	p.K131E		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	131					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTTCTCTCTTTCCCTCGTAAG	0.428													3	84					0	0	0	0	C	148802572	T	C	148802572	3	2	299	1	0	0	0	0	1	0	0	0	17994	1792	62	5	1871	5	ZNF425	7	148802572	Missense_Mutation	SNP	T	TCGA-CV-7255-01A-11D-2012-08	20162035	148802572	10336091	53	53668											
LYN	4067	broad.mit.edu	37	chr8	56860268	56860268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaagaaaggagagaagatGaaagtcctggaggagtaagt	17	7	14	3	0	1	4	1	1	0	3	2	8	2	7	1	3	0	1	1	3	5	2	rs149135061		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:56860268G>A	ENST00000520220.2	+	4	481	c.207G>A	c.(205-207)atG>atA	p.M69I	LYN_ENST00000519728.1_Missense_Mutation_p.M90I	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	90	SH3.				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|T cell costimulation	cytosol|Golgi apparatus|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)			GAGAGAAGATGAAAGTCCTGG	0.527													20	101					0	0	0	0	A	56860268	G	A	56860268	3	1	299	1	0	0	0	0	1	0	0	0	9172	1290	45	2	280	2	LYN	8	56860268	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08		56860268	89503754	54	53669											
TPD52	7163	broad.mit.edu	37	chr8	80915385	80915385	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaatgtctcagcatagAtgcaaaggattccacatttt	14	11	9	7	0	1	2	1	0	1	2	3	4	2	3	1	2	2	2	1	2	3	4			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:80915385A>G	ENST00000537855.1	-	6	907	c.586T>C	c.(586-588)Tct>Cct	p.S196P	MRPS28_ENST00000276585.4_Missense_Mutation_p.S82P|MRPS28_ENST00000522987.1_Intron|MRPS28_ENST00000521605.1_Intron|MRPS28_ENST00000521434.1_Intron			P55327	TPD52_HUMAN	tumor protein D52	0					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			CTCAGCATAGATGCAAAGGAT	0.338													8	37					0	0	0	0	G	80915385	A	G	80915385	3	3	299	1	0	0	0	0	1	0	0	0	16492	333	12	5		5	TPD52	8	80915385	Missense_Mutation	SNP	A	TCGA-CV-7255-01A-11D-2012-08	24055117	80915385	65448637	55	53670											
SLC26A7	115111	broad.mit.edu	37	chr8	92352728	92352728	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgtggcctcactggcTcttgctcaaggatctgccaa	7	11	11	12	0	4	0	2	0	2	0	4	1	4	1	2	4	2	3	2	4	3	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:92352728T>C	ENST00000276609.3	+	8	1214	c.975T>C	c.(973-975)gcT>gcC	p.A325A	SLC26A7_ENST00000309536.2_Silent_p.A325A|SLC26A7_ENST00000523719.1_Silent_p.A325A	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	325						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCTCACTGGCTCTTGCTCAAG	0.502													21	106					0	0	0	0	C	92352728	T	C	92352728	2	2	299	1	0	0	0	0	0	0	0	1	14610	1538	54	5		5	SLC26A7	8	92352728	Silent	SNP	T	TCGA-CV-7255-01A-11D-2012-08	11437343	92352728	54011294	56	53671											
VPS13B	157680	broad.mit.edu	37	chr8	100871564	100871572	+	In_Frame_Del	DEL	AGCCCTGCA	AGCCCTGCA	-																															ggtctctggatattcttggcAgccctgcaagcctggtgaga																								rs61754107	byFrequency	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:100871564_100871572delAGCCCTGCA	ENST00000358544.2	+	57	11086_11094	c.10975_10983delAGCCCTGCA	c.(10975-10983)del	p.SPA3659del	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_In_Frame_Del_p.SPA3634del	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3659					protein transport			p.P3635R(1)|p.P3660R(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATTCTTGGCAGCCCTGCAAGCCTGGTGA	0.56													10	127	---	---	---	---					-	100871572	AGCCCTGCA	-	100871564	7	5	299	1	0	1	0	1	0	0	0	0	17286	188	7	0	11391	0	VPS13B	8	100871564	In_Frame_Del	DEL	AGCCCTGCA	TCGA-CV-7255-01A-11D-2012-08	8518836	100871564	45492458	57	53672											
CSMD3	114788	broad.mit.edu	37	chr8	113249437	113249437	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaaagtagcagctccaTgttgctattgctcagtgttg	9	13	10	9	0	1	1	1	1	0	0	2	1	2	1	2	0	4	7	2	0	3	5			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:113249437T>C	ENST00000297405.5	-	67	10853	c.10609A>G	c.(10609-10611)Atg>Gtg	p.M3537V	CSMD3_ENST00000352409.3_Missense_Mutation_p.M3467V|CSMD3_ENST00000455883.2_Missense_Mutation_p.M3368V|CSMD3_ENST00000343508.3_Missense_Mutation_p.M3497V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3537						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCAGCTCCATGTTGCTATTG	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	126					0	0	0	0	C	113249437	T	C	113249437	3	2	299	1	0	0	0	0	1	0	0	0	3978	1464	51	5	534	5	CSMD3	8	113249437	Missense_Mutation	SNP	T	TCGA-CV-7255-01A-11D-2012-08	12377873	113249437	33114585	58	53673											
CSMD3	114788	broad.mit.edu	37	chr8	113347673	113347673	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtattgccactgaactgaccGatctgaggtgaattttggtc	9	13	11	8	1	1	4	0	4	1	0	2	5	1	4	2	2	2	1	2	2	3	4	rs142588028		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:113347673G>A	ENST00000297405.5	-	45	7294	c.7050C>T	c.(7048-7050)atC>atT	p.I2350I	CSMD3_ENST00000352409.3_Silent_p.I2280I|CSMD3_ENST00000455883.2_Silent_p.I2246I|CSMD3_ENST00000343508.3_Silent_p.I2310I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2350	CUB 13.					integral to membrane|plasma membrane		p.I2350I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAACTGACCGATCTGAGGTG	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	13					0	0	0	0	A	113347673	G	A	113347673	2	1	299	1	0	0	0	0	0	0	0	1	3978	1048	37	1		1	CSMD3	8	113347673	Silent	SNP	G	TCGA-CV-7255-01A-11D-2012-08	98236	113347673	33016349	59	53674											
CDKN2A	1029	broad.mit.edu	37	chr9	21968234	21968234	+	Frame_Shift_Del	DEL	G	G	-																															cctctctggttctttcaatcGgggatgtctgcagagggcag																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:21968234delG	ENST00000304494.5	-	3	735	c.465delC	c.(463-465)ccfs	p.P155fs	CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000498124.1_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.P104fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.P104fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.P104fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R131fs|CDKN2A_ENST00000530628.2_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	155					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(4)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCTTTCAATCGGGGATGTCTG	0.557		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			28	21	---	---	---	---					-	21968234	G	-	21968234	7	5	299	1	0	1	0	1	0	0	0	0	3190	1103	39	0	9	0	CDKN2A	9	21968234	Frame_Shift_Del	DEL	G	TCGA-CV-7255-01A-11D-2012-08		21968234	119245197	60	53675											
PCSK5	5125	broad.mit.edu	37	chr9	78796390	78796390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagtgtgcccccaactgtGagtcctgctttgggagccat	7	10	13	11	0	0	1	0	1	0	0	1	3	1	3	4	2	4	1	4	2	2	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:78796390G>A	ENST00000545128.1	+	16	2618	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	PCSK5_ENST00000376752.4_Missense_Mutation_p.E694K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	694	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCCAACTGTGAGTCCTGCTT	0.517													15	49					0	0	0	0	A	78796390	G	A	78796390	3	1	299	1	0	0	0	0	1	0	0	0	11674	1291	45	2	2142	2	PCSK5	9	78796390	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	56828156	78796390	62417041	61	53676											
CRB2	286204	broad.mit.edu	37	chr9	126125359	126125359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgggtttccagggcccaCgctgcgagctggacatcgat	6	8	14	13	4	0	0	0	0	0	0	2	3	1	1	3	3	3	3	3	3	0	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:126125359C>T	ENST00000373631.3	+	2	311	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	CRB2_ENST00000359999.3_Missense_Mutation_p.R104C	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	104	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCAGGGCCCACGCTGCGAGCT	0.682													8	39					0	0	0	0	T	126125359	C	T	126125359	3	4	299	1	0	0	0	0	1	0	0	0	3879	536	19	1	316	1	CRB2	9	126125359	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	47328969	126125359	15088072	62	53677											
FAM102A	399665	broad.mit.edu	37	chr9	130712724	130712724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggatggagttgtcctggCgagtgttcttcgtgtcatat	7	15	13	6	2	2	0	1	0	1	0	4	3	3	2	1	3	0	2	1	3	2	5			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:130712724C>T	ENST00000373095.1	-	4	767	c.392G>A	c.(391-393)cGc>cAc	p.R131H	FAM102A_ENST00000373084.4_5'UTR|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	131										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GTTGTCCTGGCGAGTGTTCTT	0.602													19	102					0	0	0	0	T	130712724	C	T	130712724	3	4	299	1	0	0	0	0	1	0	0	0	5423	768	27	1	794	1	FAM102A	9	130712724	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	4587365	130712724	10500707	63	53678											
COL13A1	1305	broad.mit.edu	37	chr10	71677072	71677072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatgccagggatgccaGgcaagcatggagccaaggta	11	4	17	9	0	0	0	0	0	0	0	0	2	0	2	3	6	4	4	3	6	3	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr10:71677072G>T	ENST00000356340.3	+	17	1515	c.979G>T	c.(979-981)Ggc>Tgc	p.G327C	COL13A1_ENST00000398978.3_Missense_Mutation_p.G327C|COL13A1_ENST00000398974.3_Missense_Mutation_p.G315C|COL13A1_ENST00000398973.3_Missense_Mutation_p.G327C|COL13A1_ENST00000398968.3_Missense_Mutation_p.G308C|COL13A1_ENST00000357811.3_Missense_Mutation_p.G305C|COL13A1_ENST00000398972.3_Missense_Mutation_p.G327C|COL13A1_ENST00000398966.3_Missense_Mutation_p.G305C|COL13A1_ENST00000398971.3_Missense_Mutation_p.G327C|COL13A1_ENST00000398969.3_Missense_Mutation_p.G270C|COL13A1_ENST00000520267.1_Missense_Mutation_p.G270C|COL13A1_ENST00000522165.1_Missense_Mutation_p.G308C|COL13A1_ENST00000354547.3_Missense_Mutation_p.G305C|COL13A1_ENST00000517713.1_Missense_Mutation_p.G305C|COL13A1_ENST00000520133.1_Missense_Mutation_p.G276C|COL13A1_ENST00000398964.3_Missense_Mutation_p.G298C			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	327	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGGGATGCCAGGCAAGCATGG	0.632													11	22					2.27111e-07	2.86877e-07	1	0	T	71677072	G	T	71677072	3	4	299	1	0	0	0	0	1	0	0	0	3700	1000	35	4	1049	4	COL13A1	10	71677072	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08		71677072	63857675	64	53679											
FAM178A	55719	broad.mit.edu	37	chr10	102706839	102706839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatgaactctccagtcatcCccacaacctcctgtggttgg	10	10	7	14	0	2	1	1	1	1	0	5	1	4	1	5	2	2	1	5	2	3	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr10:102706839C>T	ENST00000238961.3	+	14	3126	c.2978C>T	c.(2977-2979)cCc>cTc	p.P993L	FAM178A_ENST00000370269.3_Missense_Mutation_p.P993L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	993																	TCCAGTCATCCCCACAACCTC	0.363													26	85					0	0	0	0	T	102706839	C	T	102706839	3	4	299	1	0	0	0	0	1	0	0	0	5544	623	22	4	3032	4	FAM178A	10	102706839	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	31029767	102706839	32827908	65	53680											
PDZD7	79955	broad.mit.edu	37	chr10	102777943	102777943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccgtcccgcgctagccTcccctgccgccctcccttga	2	7	9	23	5	0	1	0	1	0	0	3	1	3	1	8	0	2	1	8	0	1	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr10:102777943T>C	ENST00000370215.3	-	9	1660	c.1435A>G	c.(1435-1437)Agg>Ggg	p.R479G		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	479						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGCGCTAGCCTCCCCTGCCGC	0.637													21	60					0	0	0	0	C	102777943	T	C	102777943	3	2	299	1	0	0	0	0	1	0	0	0	11775	1550	54	5	126	5	PDZD7	10	102777943	Missense_Mutation	SNP	T	TCGA-CV-7255-01A-11D-2012-08	71104	102777943	32756804	66	53681											
MUC5B	727897	broad.mit.edu	37	chr11	1264977	1264977	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagccacggccacacccagCaagacccgcacctcgaccct	11	2	7	21	3	0	1	0	0	0	1	1	2	0	1	6	1	2	2	6	1	1	0			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:1264977C>T	ENST00000447027.1	+	31	6934	c.6876C>T	c.(6874-6876)agC>agT	p.S2292S	MUC5B_ENST00000529681.1_Silent_p.S2289S|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2289	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACACCCAGCAAGACCCGCA	0.677													22	95					0	0	0	0	T	1264977	C	T	1264977	2	4	299	1	0	0	0	0	0	0	0	1	10049	709	25	4		4	MUC5B	11	1264977	Silent	SNP	C	TCGA-CV-7255-01A-11D-2012-08		1264977	133741539	67	53682											
MUC5B	727897	broad.mit.edu	37	chr11	1268748	1268748	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagccacagccacacccagCaagacccgcacctcgaccct	12	2	6	21	2	0	1	0	0	0	1	1	2	0	1	6	0	3	2	6	0	1	0			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:1268748C>T	ENST00000447027.1	+	31	10705	c.10647C>T	c.(10645-10647)agC>agT	p.S3549S	MUC5B_ENST00000529681.1_Silent_p.S3546S|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3546	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACACCCAGCAAGACCCGCA	0.682													5	187					0	0	0	0	T	1268748	C	T	1268748	2	4	299	1	0	0	0	0	0	0	0	1	10049	709	25	4		4	MUC5B	11	1268748	Silent	SNP	C	TCGA-CV-7255-01A-11D-2012-08	3771	1268748	133737768	68	53683											
TRIM5	85363	broad.mit.edu	37	chr11	5699621	5699621	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgtctctcagttgcTcaaaatctgccaagacgttg	10	11	9	11	1	4	1	2	0	2	1	5	2	4	2	2	1	2	3	2	1	3	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:5699621T>C	ENST00000305836.5	-	4	859	c.557A>G	c.(556-558)gAg>gGg	p.E186G	TRIM5_ENST00000396847.3_Missense_Mutation_p.E186G|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396855.3_Missense_Mutation_p.E186G|TRIM5_ENST00000396853.4_Missense_Mutation_p.E186G|TRIM5_ENST00000380034.3_Missense_Mutation_p.E186G|TRIM5_ENST00000380027.1_Missense_Mutation_p.E186G			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	186					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCTCAGTTGCTCAAAATCTGC	0.468													3	138					0	0	0	0	C	5699621	T	C	5699621	3	2	299	1	0	0	0	0	1	0	0	0	16620	1551	54	5	1183	5	TRIM5	11	5699621	Missense_Mutation	SNP	T	TCGA-CV-7255-01A-11D-2012-08	4430873	5699621	129306895	69	53684											
DNHD1	144132	broad.mit.edu	37	chr11	6588483	6588483	+	Frame_Shift_Del	DEL	C	C	-																															gcaattgagagcacacctgaCccgccagctgctgggcagca																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:6588483delC	ENST00000254579.6	+	36	12308	c.11744delC	c.(11743-11745)acfs	p.T3915fs	DNHD1_ENST00000527990.2_Frame_Shift_Del_p.T3915fs	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3915					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCACACCTGACCCGCCAGCTG	0.587													23	137	---	---	---	---					-	6588483	C	-	6588483	7	5	299	1	0	1	0	1	0	0	0	0	4704	507	18	0	11887	0	DNHD1	11	6588483	Frame_Shift_Del	DEL	C	TCGA-CV-7255-01A-11D-2012-08	888862	6588483	128418033	70	53685											
MS4A14	84689	broad.mit.edu	37	chr11	60183510	60183510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacagctaatgacctgcccCctcaaggcatactatcccaa	12	8	6	15	0	1	2	1	2	0	0	2	2	2	2	4	1	3	2	4	1	5	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:60183510C>T	ENST00000300187.6	+	5	1346	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	MS4A14_ENST00000395005.2_Missense_Mutation_p.P340S|MS4A14_ENST00000531783.1_Missense_Mutation_p.P390S|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.P245S	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	357						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TGACCTGCCCCCTCAAGGcat	0.438													13	27					0	0	0	0	T	60183510	C	T	60183510	3	4	299	1	0	0	0	0	1	0	0	0	9928	623	22	4	1087	4	MS4A14	11	60183510	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	53595027	60183510	74823006	71	53686											
CFL1	1072	broad.mit.edu	37	chr11	65623524	65623524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaggtggcgtaggggtcgtCgacagtctggcccacatcgc	8	7	15	11	4	1	0	0	0	1	0	4	1	1	0	1	5	0	1	1	5	2	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:65623524C>T	ENST00000525451.2	-	3	908	c.193G>A	c.(193-195)Gac>Aac	p.D65N	CFL1_ENST00000308162.5_Missense_Mutation_p.D65N|CFL1_ENST00000531407.1_Missense_Mutation_p.D48N|CFL1_ENST00000531413.1_Missense_Mutation_p.D48N|CFL1_ENST00000527344.1_Missense_Mutation_p.D48N|CFL1_ENST00000534769.1_Missense_Mutation_p.D103N|CFL1_ENST00000524553.1_Missense_Mutation_p.D48N			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	65	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		TAGGGGTCGTCGACAGTCTGG	0.562													51	71					0	0	0	0	T	65623524	C	T	65623524	3	4	299	1	0	0	0	0	1	0	0	0	3319	884	31	1	319	1	CFL1	11	65623524	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	5440014	65623524	69382992	72	53687											
SPTBN2	6712	broad.mit.edu	37	chr11	66454940	66454940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcctccatctcctgcttgCggcacagcatcccctccatc	6	9	7	19	1	1	0	0	0	1	0	6	0	4	0	6	2	3	3	6	2	0	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:66454940C>T	ENST00000533211.1	-	35	7011	c.6680G>A	c.(6679-6681)cGc>cAc	p.R2227H	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2227H|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2227H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2227	PH.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCCTGCTTGCGGCACAGCAT	0.642													44	73					0	0	0	0	T	66454940	C	T	66454940	3	4	299	1	0	0	0	0	1	0	0	0	15210	768	27	1	508	1	SPTBN2	11	66454940	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	831416	66454940	68551576	73	53688											
PPME1	51400	broad.mit.edu	37	chr11	73962725	73962725	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgccactttcctgatccgGcacaggtttgcagaacccat	8	11	9	13	1	0	2	0	1	0	1	2	2	2	2	4	2	3	4	4	2	1	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:73962725G>A	ENST00000328257.8	+	13	1430	c.1107G>A	c.(1105-1107)cgG>cgA	p.R369R	PPME1_ENST00000398427.4_Silent_p.R383R|PPME1_ENST00000543525.1_Silent_p.R182R			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	369					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TCCTGATCCGGCACAGGTTTG	0.522													5	127					0	0	0	0	A	73962725	G	A	73962725	2	1	299	1	0	0	0	0	0	0	0	1	12423	1190	42	4		4	PPME1	11	73962725	Silent	SNP	G	TCGA-CV-7255-01A-11D-2012-08	7507785	73962725	61043791	74	53689											
GRIA4	2893	broad.mit.edu	37	chr11	105758286	105758286	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaaggctaccattatatCattgcaaacttggtaagaac	15	12	7	7	0	1	1	1	0	0	1	1	1	1	1	1	2	4	4	1	2	8	7			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:105758286C>A	ENST00000393127.2	+	6	1160	c.714C>A	c.(712-714)atC>atA	p.I238I	GRIA4_ENST00000530497.1_Silent_p.I238I|GRIA4_ENST00000393125.2_Silent_p.I238I|GRIA4_ENST00000428631.2_Silent_p.I238I|GRIA4_ENST00000282499.5_Silent_p.I238I|GRIA4_ENST00000525187.1_Silent_p.I238I	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	238					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ACCATTATATCATTGCAAACT	0.269													6	61					0.000157383	0.000190219	1	0	A	105758286	C	A	105758286	2	1	299	1	0	0	0	0	0	0	0	1	6820	816	29	2		2	GRIA4	11	105758286	Silent	SNP	C	TCGA-CV-7255-01A-11D-2012-08	31795561	105758286	29248230	75	53690											
OR8B12	219858	broad.mit.edu	37	chr11	124413461	124413461	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccgtgtagaaacccagAaacaggaagaagagggggat	16	4	15	6	1	0	5	0	1	0	4	0	7	0	7	2	3	2	1	2	3	5	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:124413461A>T	ENST00000306842.2	-	1	114	c.90T>A	c.(88-90)ttT>ttA	p.F30L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGAAACCCAGAAACAGGAAGA	0.512													22	72					0	0	0	0	T	124413461	A	T	124413461	3	4	299	1	0	0	0	0	1	0	0	0	11297	243	9	5	844	5	OR8B12	11	124413461	Missense_Mutation	SNP	A	TCGA-CV-7255-01A-11D-2012-08	18655175	124413461	10593055	76	53691											
OR6C4	341418	broad.mit.edu	37	chr12	55945874	55945874	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttactgaatcccttcatataTactttaagaaatcagcaagt	15	14	4	8	0	2	2	2	1	0	1	3	2	3	2	1	0	3	1	1	0	8	7			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr12:55945874T>C	ENST00000394256.2	+	1	892	c.864T>C	c.(862-864)taT>taC	p.Y288Y	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTTCATATATACTTTAAGAA	0.333													13	34					0	0	0	0	C	55945874	T	C	55945874	2	2	299	1	0	0	0	0	0	0	0	1	11264	1413	49	5		5	OR6C4	12	55945874	Silent	SNP	T	TCGA-CV-7255-01A-11D-2012-08		55945874	77906021	77	53692											
ACSS3	79611	broad.mit.edu	37	chr12	81472045	81472045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggggcggtctcgggggccGgggatgcagggcactgtcct	3	6	21	11	4	1	0	0	0	1	0	3	1	2	1	2	8	1	2	2	8	0	0			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr12:81472045G>A	ENST00000548058.1	+	1	1056	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	ACSS3_ENST00000261206.3_Missense_Mutation_p.R49Q			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	49						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTCGGGGGCCGGGGATGCAGG	0.731													12	14					0	0	0	0	A	81472045	G	A	81472045	3	1	299	1	0	0	0	0	1	0	0	0	190	1116	39	1	148	1	ACSS3	12	81472045	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	25526171	81472045	52379850	78	53693											
ANKLE2	23141	broad.mit.edu	37	chr12	133331319	133331319	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagtacaggggcggctcCttagacgcagtcgctccagc	8	7	12	14	3	0	1	0	0	0	1	3	1	2	1	3	3	2	4	3	3	3	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr12:133331319C>T	ENST00000539605.1	-	1	7080	c.396G>A	c.(394-396)aaG>aaA	p.K132K	ANKLE2_ENST00000337516.5_Silent_p.K194K|ANKLE2_ENST00000357997.5_Silent_p.K194K			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	194						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GGGGCGGCTCCTTAGACGCAG	0.567													17	58					0	0	0	0	T	133331319	C	T	133331319	2	4	299	1	0	0	0	0	0	0	0	1	633	680	24	4		4	ANKLE2	12	133331319	Silent	SNP	C	TCGA-CV-7255-01A-11D-2012-08	51859274	133331319	520576	79	53694											
FREM2	341640	broad.mit.edu	37	chr13	39265893	39265893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcgaggtcacctggaatGcacggatcagcctggtgtgt	8	9	14	10	2	2	0	2	0	0	0	2	3	2	2	2	4	3	1	2	4	1	0			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr13:39265893G>T	ENST00000280481.7	+	1	4628	c.4412G>T	c.(4411-4413)tGc>tTc	p.C1471F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1471					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACCTGGAATGCACGGATCAG	0.468													13	39					0.00010058	0.000122445	1	0	T	39265893	G	T	39265893	3	4	299	1	0	0	0	0	1	0	0	0	6093	1319	46	4	4414	4	FREM2	13	39265893	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08		39265893	75903985	80	53695											
TSC22D1	8848	broad.mit.edu	37	chr13	45149170	45149170	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcccaacactcacaccAgcagcactaggaatattgct	13	6	7	15	0	1	0	1	0	0	0	1	1	1	1	3	2	4	3	3	2	4	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr13:45149170A>G	ENST00000458659.2	-	1	1531	c.1041T>C	c.(1039-1041)gcT>gcC	p.A347A	TSC22D1_ENST00000501704.2_Silent_p.A347A	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	347					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CACTCACACCAGCAGCACTAG	0.413													17	53					0	0	0	0	G	45149170	A	G	45149170	2	3	299	1	0	0	0	0	0	0	0	1	16702	175	7	5		5	TSC22D1	13	45149170	Silent	SNP	A	TCGA-CV-7255-01A-11D-2012-08	5883277	45149170	70020708	81	53696											
OR4M1	441670	broad.mit.edu	37	chr14	20249046	20249046	+	Frame_Shift_Del	DEL	T	T	-																															cacaggttgtccggattgccTgtgccaacaccttcccagag																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:20249046delT	ENST00000315957.4	+	1	646	c.565delT	c.(565-567)gtfs	p.C189fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCGGATTGCCTGTGCCAACAC	0.458													37	271	---	---	---	---					-	20249046	T	-	20249046	7	5	299	1	0	1	0	1	0	0	0	0	11146	1580	55	0	567	0	OR4M1	14	20249046	Frame_Shift_Del	DEL	T	TCGA-CV-7255-01A-11D-2012-08		20249046	87100494	82	53697											
CHD8	57680	broad.mit.edu	37	chr14	21897487	21897487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaccagggtgatgcgtttcGattcaccctaaagtgaagaa	12	9	12	8	2	1	3	1	2	0	1	2	5	1	4	2	2	1	1	2	2	4	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:21897487G>A	ENST00000399982.2	-	2	915	c.851C>T	c.(850-852)tCg>tTg	p.S284L	CHD8_ENST00000557364.1_Missense_Mutation_p.S284L|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.S5L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	284					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GATGCGTTTCGATTCACCCTA	0.438													12	38					0	0	0	0	A	21897487	G	A	21897487	3	1	299	1	0	0	0	0	1	0	0	0	3360	1059	37	1	7038	1	CHD8	14	21897487	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	1648441	21897487	85452053	83	53698											
OTX2	5015	broad.mit.edu	37	chr14	57268457	57268457	+	Frame_Shift_Del	DEL	A	A	-																															gaggttctacaggtcttcacAaaacctggaatttccacgag																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:57268457delA	ENST00000339475.5	-	5	1166	c.890delT	c.(889-891)tgfs	p.L297fs	OTX2_ENST00000408990.3_Frame_Shift_Del_p.L289fs|OTX2_ENST00000555006.1_Frame_Shift_Del_p.L289fs	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	289					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AGGTCTTCACAAAACCTGGAA	0.408													14	73	---	---	---	---					-	57268457	A	-	57268457	7	5	299	1	0	1	0	1	0	0	0	0	11392	131	5	0	7	0	OTX2	14	57268457	Frame_Shift_Del	DEL	A	TCGA-CV-7255-01A-11D-2012-08	35370970	57268457	50081083	84	53699											
EXD2	55218	broad.mit.edu	37	chr14	69697274	69697274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgacaagtcccttctacttCgttgcagcaactgggatgct	8	13	9	11	1	1	1	0	1	1	0	3	2	2	2	1	1	5	4	1	1	3	5			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:69697274C>T	ENST00000409014.1	+	6	958	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	EXD2_ENST00000312994.5_Missense_Mutation_p.R226C|EXD2_ENST00000449989.1_Missense_Mutation_p.R101C|EXD2_ENST00000409675.1_Missense_Mutation_p.R101C|EXD2_ENST00000409949.1_Missense_Mutation_p.R101C|EXD2_ENST00000409242.1_Missense_Mutation_p.R101C|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409018.3_Missense_Mutation_p.R226C	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	101	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.R101G(1)|p.R226G(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CCTTCTACTTCGTTGCAGCAA	0.423													16	81					0	0	0	0	T	69697274	C	T	69697274	3	4	299	1	0	0	0	0	1	0	0	0	5335	884	31	1	307	1	EXD2	14	69697274	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	12428817	69697274	37652266	85	53700											
COQ6	51004	broad.mit.edu	37	chr14	74426168	74426168	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgtcccatgaacatgcAgcagagctagttagcatgga	12	8	10	11	1	0	2	0	1	0	1	2	3	2	3	2	1	5	5	2	1	3	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:74426168A>C	ENST00000334571.2	+	8	874	c.834A>C	c.(832-834)gcA>gcC	p.A278A	COQ6_ENST00000554920.1_Intron|COQ6_ENST00000394026.4_Silent_p.A253A|COQ6_ENST00000238709.4_Silent_p.A203A|ENTPD5_ENST00000557325.1_3'UTR	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	278					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		ATGAACATGCAGCAGAGCTAG	0.483													18	110					0	0	0	0	C	74426168	A	C	74426168	2	2	299	1	0	0	0	0	0	0	0	1	3779	175	7	5		5	COQ6	14	74426168	Silent	SNP	A	TCGA-CV-7255-01A-11D-2012-08	4728894	74426168	32923372	86	53701											
TMEM62	80021	broad.mit.edu	37	chr15	43446919	43446919	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctgtcacagttaagattGatggagttcatttaggccag	10	14	10	7	0	3	2	2	1	1	1	3	3	3	3	1	2	0	2	1	2	2	6			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr15:43446919G>C	ENST00000260403.2	+	9	1351	c.1072G>C	c.(1072-1074)Gat>Cat	p.D358H		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	358						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AGTTAAGATTGATGGAGTTCA	0.388													4	33					0	0	0	0	C	43446919	G	C	43446919	3	2	299	1	0	0	0	0	1	0	0	0	16283	1290	45	2	1106	2	TMEM62	15	43446919	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08		43446919	59084473	87	53702											
ACSM5	54988	broad.mit.edu	37	chr16	20442600	20442600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggggaatgttgccgtccGtatcagacccactcggccct	8	8	12	13	3	1	2	1	0	0	2	3	3	2	3	4	3	1	2	4	3	2	2	rs144464842	by1000genomes	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:20442600G>A	ENST00000331849.4	+	10	1412	c.1265G>A	c.(1264-1266)cGt>cAt	p.R422H		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	422					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R422L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GTTGCCGTCCGTATCAGACCC	0.502													36	214					0	0	0	0	A	20442600	G	A	20442600	3	1	299	1	0	0	0	0	1	0	0	0	187	1145	40	1	1299	1	ACSM5	16	20442600	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08		20442600	69912153	88	53703											
SCNN1G	6340	broad.mit.edu	37	chr16	23221114	23221114	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctacagtcagtgcacggAggacgggagtgacgtgccaa	10	5	15	11	3	1	1	1	1	0	0	1	4	1	4	2	3	3	1	2	3	2	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:23221114A>G	ENST00000300061.2	+	7	1264	c.1121A>G	c.(1120-1122)gAg>gGg	p.E374G	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	374					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CAGTGCACGGAGGACGGGAGT	0.617													9	76					0	0	0	0	G	23221114	A	G	23221114	3	3	299	1	0	0	0	0	1	0	0	0	14017	304	11	5	1143	5	SCNN1G	16	23221114	Missense_Mutation	SNP	A	TCGA-CV-7255-01A-11D-2012-08	2778514	23221114	67133639	89	53704											
MMP15	4324	broad.mit.edu	37	chr16	58077474	58077475	+	Frame_Shift_Ins	INS	-	-	G																															tgggtaccccaagcccatcaINSgtgtctggcaggggatccct																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:58077474_58077475insG	ENST00000219271.3	+	9	2298_2299	c.1513_1514insG	c.(1513-1515)tgtfs	p.C505fs		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	505	Hemopexin-like 3.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CAAGCCCATCAGTGTCTGGCAG	0.599													11	39	---	---	---	---					G	58077475	-	G	58077474	7	5	299	1	0	1	1	0	0	0	0	0	9723	188	7	0	1547	0	MMP15	16	58077474	Frame_Shift_Ins	INS	-	TCGA-CV-7255-01A-11D-2012-08	34856360	58077474	32277279	90	53705											
DPEP1	1800	broad.mit.edu	37	chr16	89702704	89702704	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacacgccctgcgacacccaGaacaaagacgccgtgcggag	12	3	11	15	5	0	2	0	0	0	2	0	4	0	3	3	1	4	0	3	1	3	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:89702704G>A	ENST00000393092.3	+	4	561	c.270G>A	c.(268-270)caG>caA	p.Q90Q	DPEP1_ENST00000261615.4_Silent_p.Q90Q|DPEP1_ENST00000421184.1_Silent_p.Q90Q	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	90					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GCGACACCCAGAACAAAGACG	0.652													9	24					0	0	0	0	A	89702704	G	A	89702704	2	1	299	1	0	0	0	0	0	0	0	1	4749	933	33	2		2	DPEP1	16	89702704	Silent	SNP	G	TCGA-CV-7255-01A-11D-2012-08	31625230	89702704	652049	91	53706											
SERPINF1	5176	broad.mit.edu	37	chr17	1675260	1675260	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccctcgcttggacctgcaAgagatcaacaactgggtgca	12	7	10	12	1	1	1	1	0	0	1	2	3	1	2	2	2	5	3	2	2	4	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:1675260A>T	ENST00000254722.4	+	5	697	c.534A>T	c.(532-534)caA>caT	p.Q178H		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	178					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						TGGACCTGCAAGAGATCAACA	0.552													7	32					0	0	0	0	T	1675260	A	T	1675260	3	4	299	1	0	0	0	0	1	0	0	0	14201	69	3	5	548	5	SERPINF1	17	1675260	Missense_Mutation	SNP	A	TCGA-CV-7255-01A-11D-2012-08		1675260	79519950	92	53707											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	3	14	11	13	1	0	0	0	0	0	0	3	0	2	0	3	2	4	5	3	2	2	4	rs121913344		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			83	19					0	0	0	0	A	7577022	G	A	7577022	4	1	299	1	0	0	0	0	0	1	0	0	16476	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	5901762	7577022	73618188	93	53708											
PFAS	5198	broad.mit.edu	37	chr17	8167249	8167249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaccatcactggagacCggagagtgagttggcccagg	9	6	16	10	1	1	3	1	1	0	2	1	5	1	3	3	5	0	2	3	5	0	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:8167249C>T	ENST00000314666.6	+	15	1919	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	PFAS_ENST00000545834.1_Missense_Mutation_p.R172W|PFAS_ENST00000585319.1_3'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	596					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CACTGGAGACCGGAGAGTGAG	0.597													8	78					0	0	0	0	T	8167249	C	T	8167249	3	4	299	1	0	0	0	0	1	0	0	0	11826	643	23	1	1840	1	PFAS	17	8167249	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	590227	8167249	73027961	94	53709											
AKAP10	11216	broad.mit.edu	37	chr17	19835125	19835125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcagtcaatacctgagacGcagagctgtcagaactccct	13	8	8	12	1	3	3	3	1	0	3	4	4	4	3	2	0	3	2	2	0	4	1	rs139003893		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:19835125G>A	ENST00000225737.6	-	10	1791	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	AKAP10_ENST00000395536.3_Intron	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	545					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TACCTGAGACGCAGAGCTGTC	0.483													10	48					0	0	0	0	A	19835125	G	A	19835125	3	1	299	1	0	0	0	0	1	0	0	0	446	1087	38	1	378	1	AKAP10	17	19835125	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	11667876	19835125	61360085	95	53710											
VTN	7448	broad.mit.edu	37	chr17	26694894	26694894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggcgggagttctggttgCggccacggctgtggcctcgt	2	9	18	12	5	1	0	0	0	1	0	2	1	1	1	3	6	1	3	3	6	0	2	rs150566083		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:26694894C>T	ENST00000226218.4	-	7	1784	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	SEBOX_ENST00000536498.1_5'UTR|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000438614.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	389	Heparin-binding.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	p.R389H(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GTTCTGGTTGCGGCCACGGCT	0.592													12	30					0	0	0	0	T	26694894	C	T	26694894	3	4	299	1	0	0	0	0	1	0	0	0	17333	768	27	1	278	1	VTN	17	26694894	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	6859769	26694894	54500316	96	53711											
PIP4K2B	8396	broad.mit.edu	37	chr17	36927448	36927450	+	In_Frame_Del	DEL	CTC	CTC	-																															gcccgctcctccacctccatCtcctcctgctctgcccggtc																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:36927448_36927450delCTC	ENST00000269554.3	-	8	1363_1365	c.883_885delGAG	c.(883-885)del	p.E295del		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	295	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						ccacctccatctcctcctgctcT	0.596													8	40	---	---	---	---					-	36927450	CTC	-	36927448	7	5	299	1	0	1	0	1	0	0	0	0	12009	912	32	0	377	0	PIP4K2B	17	36927448	In_Frame_Del	DEL	CTC	TCGA-CV-7255-01A-11D-2012-08	10232554	36927448	44267762	97	53712											
PLXDC1	57125	broad.mit.edu	37	chr17	37265528	37265528	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccggtgggtgttggagagTattgtgtggatcttcacttg	5	15	16	5	1	2	1	1	0	1	1	2	3	2	2	1	4	1	2	1	4	1	5			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:37265528T>C	ENST00000315392.4	-	3	583	c.372A>G	c.(370-372)atA>atG	p.I124M	PLXDC1_ENST00000394316.2_Missense_Mutation_p.I124M|PLXDC1_ENST00000539608.1_Missense_Mutation_p.I51M|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.I84M	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	124					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTTGGAGAGTATTGTGTGGA	0.632													14	33					0	0	0	0	C	37265528	T	C	37265528	3	2	299	1	0	0	0	0	1	0	0	0	12189	1628	57	5	1178	5	PLXDC1	17	37265528	Missense_Mutation	SNP	T	TCGA-CV-7255-01A-11D-2012-08	338080	37265528	43929682	98	53713											
RAMP2	10266	broad.mit.edu	37	chr17	40914816	40914816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccatctgcctcatcccCttcctcatcactcttgtagt	5	13	4	19	0	5	0	3	0	2	0	7	0	7	0	6	0	1	1	6	0	1	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:40914816C>T	ENST00000589683.1	+	4	615	c.249C>T	c.(247-249)ccC>ccT	p.P83P	RAMP2_ENST00000588576.1_3'UTR|RAMP2_ENST00000587142.1_Silent_p.P163P|RAMP2_ENST00000253796.5_Silent_p.P158P			O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	158					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	GCCTCATCCCCTTCCTCATCA	0.567													17	49					0	0	0	0	T	40914816	C	T	40914816	2	4	299	1	0	0	0	0	0	0	0	1	13104	668	24	4		4	RAMP2	17	40914816	Silent	SNP	C	TCGA-CV-7255-01A-11D-2012-08	3649288	40914816	40280394	99	53714											
SOX9	6662	broad.mit.edu	37	chr17	70119789	70119789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccttgccagaggggggcaGacagccccctatcgacttcc	7	6	11	17	1	0	2	0	0	0	2	2	3	1	2	6	3	2	1	6	3	1	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:70119789G>A	ENST00000245479.2	+	3	1163	c.791G>A	c.(790-792)aGa>aAa	p.R264K		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	264					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.R264T(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GAGGGGGGCAGACAGCCCCCT	0.647													25	99					0	0	0	0	A	70119789	G	A	70119789	3	1	299	1	0	0	0	0	1	0	0	0	15046	942	33	2	801	2	SOX9	17	70119789	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	29204973	70119789	11075421	100	53715											
TXNDC2	84203	broad.mit.edu	37	chr18	9886722	9886722	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacagaggagtctgatgcCtcacaggagggcgatgacct	10	6	14	11	2	2	3	1	2	1	1	2	6	2	5	2	3	1	1	2	3	0	0			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr18:9886722C>T	ENST00000306084.6	+	2	445	c.246C>T	c.(244-246)gcC>gcT	p.A82A	TXNDC2_ENST00000357775.4_Silent_p.A15A|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Silent_p.A15A	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	82					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGTCTGATGCCTCACAGGAGG	0.567													23	81					0	0	0	0	T	9886722	C	T	9886722	2	4	299	1	0	0	0	0	0	0	0	1	16893	668	24	4		4	TXNDC2	18	9886722	Silent	SNP	C	TCGA-CV-7255-01A-11D-2012-08		9886722	68190526	101	53716											
MC2R	4158	broad.mit.edu	37	chr18	13885467	13885467	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacgaggacagtcggaattAtttcttgctgtgttgttgat	9	15	11	6	2	1	1	0	1	1	0	2	4	1	3	0	2	1	3	0	2	2	5			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr18:13885467A>G	ENST00000327606.3	-	2	231	c.51T>C	c.(49-51)aaT>aaC	p.N17N		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	17					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGTCGGAATTATTTCTTGCTG	0.433													9	39					0	0	0	0	G	13885467	A	G	13885467	2	3	299	1	0	0	0	0	0	0	0	1	9433	446	16	5		5	MC2R	18	13885467	Silent	SNP	A	TCGA-CV-7255-01A-11D-2012-08	3998745	13885467	64191781	102	53717											
SERPINB10	5273	broad.mit.edu	37	chr18	61602211	61602211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcaaccctgagcagtatggGgatgagtgatgccttcagcc	9	9	13	10	0	2	3	2	3	0	0	2	4	2	4	3	2	4	2	3	2	2	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr18:61602211G>A	ENST00000238508.3	+	8	988	c.929G>A	c.(928-930)gGg>gAg	p.G310E	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AGCAGTATGGGGATGAGTGAT	0.438													8	27					0	0	0	0	A	61602211	G	A	61602211	3	1	299	1	0	0	0	0	1	0	0	0	14184	1232	43	4	955	4	SERPINB10	18	61602211	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	47716744	61602211	16475037	103	53718											
CCL25	6370	broad.mit.edu	37	chr19	8122704	8122704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggccctcatgctgtaaaGaagttgagttctggaaactc	11	10	11	9	0	2	2	1	1	1	1	3	3	2	3	1	2	2	5	1	2	4	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:8122704G>C	ENST00000253451.4	+	5	448	c.342G>C	c.(340-342)aaG>aaC	p.K114N	CCL25_ENST00000390669.3_Missense_Mutation_p.K115N|CCL25_ENST00000315626.4_Missense_Mutation_p.E71Q	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	115					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						atgctgtaaagaagttgagtt	0.468													11	27					0	0	0	0	C	8122704	G	C	8122704	3	2	299	1	0	0	0	0	1	0	0	0	2924	933	33	2	359	2	CCL25	19	8122704	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08		8122704	51006279	104	53719											
KRI1	65095	broad.mit.edu	37	chr19	10675689	10675689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcgttttgtaaaagtcccGctcctgctggggatcaaatt	9	12	11	9	2	1	0	1	0	0	0	3	2	3	1	2	2	2	4	2	2	3	4			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:10675689G>A	ENST00000312962.6	-	3	227	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Missense_Mutation_p.R66W	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	70										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TAAAAGTCCCGCTCCTGCTGG	0.517											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	39					0	0	0	0	A	10675689	G	A	10675689	3	1	299	1	0	0	0	0	1	0	0	0	8496	1086	38	1	1989	1	KRI1	19	10675689	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	2552985	10675689	48453294	105	53720											
FCHO1	23149	broad.mit.edu	37	chr19	17892312	17892312	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagccgccagcactgccTtggaacggcccagcttctta	7	9	9	16	2	2	0	1	0	1	0	2	1	2	1	4	2	5	2	4	2	2	4			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:17892312T>A	ENST00000594202.1	+	22	2071	c.1792T>A	c.(1792-1794)Ttg>Atg	p.L598M	FCHO1_ENST00000389133.4_Missense_Mutation_p.L598M|FCHO1_ENST00000597512.1_Missense_Mutation_p.L605M|FCHO1_ENST00000600676.1_Missense_Mutation_p.L598M|FCHO1_ENST00000596951.1_Missense_Mutation_p.L598M|FCHO1_ENST00000596536.1_Missense_Mutation_p.L598M|FCHO1_ENST00000595033.1_Missense_Mutation_p.L548M|FCHO1_ENST00000252771.7_Missense_Mutation_p.L598M|FCHO1_ENST00000539407.1_Missense_Mutation_p.L598M	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	598										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CAGCACTGCCTTGGAACGGCC	0.622													18	61					0	0	0	0	A	17892312	T	A	17892312	3	1	299	1	0	0	0	0	1	0	0	0	5832	1606	56	5	1866	5	FCHO1	19	17892312	Missense_Mutation	SNP	T	TCGA-CV-7255-01A-11D-2012-08	7216623	17892312	41236671	106	53721											
FCGBP	8857	broad.mit.edu	37	chr19	40392569	40392569	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctcgggaggacactcctcGctggggatacagccctcgct	7	7	13	14	3	0	0	0	0	0	0	4	3	1	3	2	4	3	3	2	4	1	1	rs142183229	byFrequency	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:40392569G>A	ENST00000221347.6	-	16	7942	c.7935C>T	c.(7933-7935)agC>agT	p.S2645S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2645	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACACTCCTCGCTGGGGATAC	0.657													16	50					0	0	0	0	A	40392569	G	A	40392569	2	1	299	1	0	0	0	0	0	0	0	1	5823	1078	38	1		1	FCGBP	19	40392569	Silent	SNP	G	TCGA-CV-7255-01A-11D-2012-08	22500257	40392569	18736414	107	53722											
VN1R1	57191	broad.mit.edu	37	chr19	57967606	57967606	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggctgagaatcaagtcCgtgggtctcagcttgtgtcc	7	12	13	9	1	2	1	2	1	1	1	5	2	4	1	2	2	1	3	2	2	2	2	rs143275734		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:57967606C>T	ENST00000321039.3	-	1	248	c.249G>A	c.(247-249)acG>acA	p.T83T	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	83					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GAATCAAGTCCGTGGGTCTCA	0.423													8	22					0	0	0	0	T	57967606	C	T	57967606	2	4	299	1	0	0	0	0	0	0	0	1	17274	639	23	1		1	VN1R1	19	57967606	Silent	SNP	C	TCGA-CV-7255-01A-11D-2012-08	17575037	57967606	1161377	108	53723											
PXMP4	11264	broad.mit.edu	37	chr20	32307907	32307911	+	Frame_Shift_Del	DEL	CCGTT	CCGTT	-																															acggccccactcacacagccCcgttccggaagcccttaagc																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:32307907_32307911delCCGTT	ENST00000409299.3	-	1	195_199	c.103_107delAACGG	c.(103-108)gfs	p.NG35fs	PXMP4_ENST00000344022.3_Frame_Shift_Del_p.NG35fs|PXMP4_ENST00000217398.3_Frame_Shift_Del_p.NG35fs	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	35						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TCACACAGCCCCGTTCCGGAAGCCC	0.688													14	92	---	---	---	---					-	32307911	CCGTT	-	32307907	7	5	299	1	0	1	0	1	0	0	0	0	12933	623	22	0	547	0	PXMP4	20	32307907	Frame_Shift_Del	DEL	CCGTT	TCGA-CV-7255-01A-11D-2012-08		32307907	30717613	109	53724											
ITCH	83737	broad.mit.edu	37	chr20	33033215	33033215	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacaatggcagctacagcgTagtcagcttcaaggagcaat	14	7	11	9	1	2	0	2	0	0	0	2	2	2	1	0	2	6	5	0	2	6	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:33033215T>C	ENST00000374864.4	+	11	1302	c.1089T>C	c.(1087-1089)cgT>cgC	p.R363R	ITCH_ENST00000535650.1_Silent_p.R253R|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000262650.6_Silent_p.R404R	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	404	WW 2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGCTACAGCGTAGTCAGCTTC	0.423													27	55					0	0	0	0	C	33033215	T	C	33033215	2	2	299	1	0	0	0	0	0	0	0	1	7921	1625	57	5		5	ITCH	20	33033215	Silent	SNP	T	TCGA-CV-7255-01A-11D-2012-08	725308	33033215	29992305	110	53725											
PTPRT	11122	broad.mit.edu	37	chr20	40790072	40790072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtcagccacccggatggCgggttggaactggtcccggg	7	6	16	12	3	1	0	1	0	0	0	2	2	2	2	3	6	2	1	3	6	2	1	rs61753667		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:40790072C>T	ENST00000373198.3	-	18	2903	c.2668G>A	c.(2668-2670)Gcc>Acc	p.A890T	PTPRT_ENST00000373190.1_Missense_Mutation_p.A867T|PTPRT_ENST00000373184.1_Missense_Mutation_p.A858T|PTPRT_ENST00000356100.2_Missense_Mutation_p.A877T|PTPRT_ENST00000373187.1_Missense_Mutation_p.A868T|PTPRT_ENST00000373193.3_Missense_Mutation_p.A871T|PTPRT_ENST00000373201.1_Missense_Mutation_p.A858T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	868	Tyrosine-protein phosphatase 1.				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)				ACCCGGATGGCGGGTTGGAAC	0.622													24	98					0	0	0	0	T	40790072	C	T	40790072	3	4	299	1	0	0	0	0	1	0	0	0	12894	768	27	1	1783	1	PTPRT	20	40790072	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	7756857	40790072	22235448	111	53726											
SLC12A5	57468	broad.mit.edu	37	chr20	44676660	44676660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggatacgaggtctgtctCtcagtgcggctcgctatgcc	6	11	13	11	3	3	0	1	0	2	0	5	2	3	1	1	3	3	2	1	3	2	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:44676660C>T	ENST00000454036.1	+	16	2093	c.2017C>T	c.(2017-2019)Ctc>Ttc	p.L673F	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L650F|SLC12A5_ENST00000539566.1_3'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	673					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGGTCTGTCTCTCAGTGCGGC	0.607													5	35					0	0	0	0	T	44676660	C	T	44676660	3	4	299	1	0	0	0	0	1	0	0	0	14474	913	32	2	2135	2	SLC12A5	20	44676660	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	3886588	44676660	18348860	112	53727											
CTCFL	140690	broad.mit.edu	37	chr20	56098320	56098320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaataactggttcttctcCtgctcttcctcgagctaata	8	14	6	13	1	3	0	0	0	3	0	6	1	4	0	3	1	3	3	3	1	4	6			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:56098320C>T	ENST00000426658.2	-	2	1219	c.558G>A	c.(556-558)caG>caA	p.Q186Q	CTCFL_ENST00000243914.3_Silent_p.Q186Q|CTCFL_ENST00000539382.1_5'UTR|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Silent_p.Q186Q|CTCFL_ENST00000432255.2_Silent_p.Q186Q|CTCFL_ENST00000422109.2_Silent_p.Q186Q|CTCFL_ENST00000429804.2_Silent_p.Q186Q|CTCFL_ENST00000423479.2_Silent_p.Q186Q|CTCFL_ENST00000422869.2_Silent_p.Q186Q|CTCFL_ENST00000371196.2_Silent_p.Q186Q			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	186					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGTTCTTCTCCTGCTCTTCCT	0.353													13	101					0	0	0	0	T	56098320	C	T	56098320	2	4	299	1	0	0	0	0	0	0	0	1	4033	680	24	4		4	CTCFL	20	56098320	Silent	SNP	C	TCGA-CV-7255-01A-11D-2012-08	11421660	56098320	6927200	113	53728											
NRIP1	8204	broad.mit.edu	37	chr21	16337046	16337049	+	Frame_Shift_Del	DEL	TTCT	TTCT	-																															gcaggtacattttattctgaTtctttctttatcgttagcac																										TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr21:16337046_16337049delTTCT	ENST00000400202.1	-	3	4177_4180	c.3465_3468delAGAA	c.(3463-3468)aafs	p.KE1155fs	NRIP1_ENST00000400199.1_Frame_Shift_Del_p.KE1155fs|NRIP1_ENST00000318948.4_Frame_Shift_Del_p.KE1155fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1155	Repression domain 4.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTTATTCTGATTCTTTCTTTATCG	0.373													23	58	---	---	---	---					-	16337049	TTCT	-	16337046	7	5	299	1	0	1	0	1	0	0	0	0	10723	1490	52	0	12	0	NRIP1	21	16337046	Frame_Shift_Del	DEL	TTCT	TCGA-CV-7255-01A-11D-2012-08		16337046	31792849	114	53729											
SLC16A8	23539	broad.mit.edu	37	chr22	38477107	38477107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtgcggccgcagacgcGccaggcccgccagggcgccg	5	1	18	17	8	0	1	0	0	0	1	0	2	0	2	5	4	1	1	5	4	0	0			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr22:38477107G>T	ENST00000320521.5	-	4	1046	c.938C>A	c.(937-939)gCg>gAg	p.A313E	SLC16A8_ENST00000469516.1_Intron	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	313					blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	CCGCAGACGCGCCAGGCCCGC	0.741													4	8					2.56e-06	3.16235e-06	1	0	T	38477107	G	T	38477107	3	4	299	1	0	0	0	0	1	0	0	0	14502	1087	38	3	584	3	SLC16A8	22	38477107	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08		38477107	12827459	115	53730											
PHF21B	112885	broad.mit.edu	37	chr22	45289390	45289390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtgcttcttctcttccGctcctgtcgcttgctctgga	1	16	10	14	2	3	0	0	0	3	0	7	1	5	1	2	2	2	5	2	2	0	4			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr22:45289390G>A	ENST00000313237.5	-	7	1057	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	PHF21B_ENST00000403565.1_Missense_Mutation_p.R99W|PHF21B_ENST00000396103.3_Missense_Mutation_p.R261W|PHF21B_ENST00000404079.2_Missense_Mutation_p.R249W|PHF21B_ENST00000447824.3_Missense_Mutation_p.R249W	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	303							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTTCTCTTCCGCTCCTGTCGC	0.632													4	8					0	0	0	0	A	45289390	G	A	45289390	3	1	299	1	0	0	0	0	1	0	0	0	11906	1086	38	1	716	1	PHF21B	22	45289390	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	6812283	45289390	6015176	116	53731											
PHKA2	5256	broad.mit.edu	37	chrX	18949759	18949759	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggccactaagcccctacCtctgccaacagcgagctgag	10	6	10	15	1	1	2	0	2	1	0	1	3	1	2	5	1	6	1	5	1	3	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:18949759C>A	ENST00000379942.4	-	12	1910	c.1245_splice	c.e12+1	p.E415_splice		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	415					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AAGCCCCTACCTCTGCCAACA	0.552											OREG0019698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	130					2.70662e-09	3.6377e-09	1	0	A	18949759	C	A	18949759	5	1	299	1	0	0	0	0	0	0	1	0	11916	695	24	4	2550	4	PHKA2	23	18949759	Splice_Site	SNP	C	TCGA-CV-7255-01A-11D-2012-08		18949759	136320801	117	53732											
SYTL5	94122	broad.mit.edu	37	chrX	37984588	37984588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcaaagccaccaagcacAaaactctggtaataaaaaag	21	5	6	9	0	1	0	0	0	1	0	1	0	1	0	2	1	4	3	2	1	9	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:37984588A>G	ENST00000357972.5	+	16	2425	c.1879A>G	c.(1879-1881)Aaa>Gaa	p.K627E	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.K627E|SYTL5_ENST00000456733.2_Missense_Mutation_p.K649E			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	627	C2 2.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CACCAAGCACAAAACTCTGGT	0.403													10	24					0	0	0	0	G	37984588	A	G	37984588	3	3	299	1	0	0	0	0	1	0	0	0	15577	131	5	5	2007	5	SYTL5	23	37984588	Missense_Mutation	SNP	A	TCGA-CV-7255-01A-11D-2012-08	19034829	37984588	117285972	118	53733											
AKAP4	8852	broad.mit.edu	37	chrX	49957377	49957377	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgttggacatggaagctgCtttgcttgccctgggctcag	5	13	13	10	0	2	0	1	0	1	0	2	2	2	2	1	3	4	5	1	3	1	3			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:49957377C>A	ENST00000376056.2	-	5	2110	c.1960G>T	c.(1960-1962)Gca>Tca	p.A654S	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.A280S|AKAP4_ENST00000358526.2_Missense_Mutation_p.A663S|AKAP4_ENST00000376064.3_Missense_Mutation_p.A654S			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	663					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATGGAAGCTGCTTTGCTTGCC	0.478													11	47					3.86212e-05	4.73603e-05	1	0	A	49957377	C	A	49957377	3	1	299	1	0	0	0	0	1	0	0	0	453	797	28	4	585	4	AKAP4	23	49957377	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	11972789	49957377	105313183	119	53734											
TRO	7216	broad.mit.edu	37	chrX	54955308	54955308	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagaaaatgcagatgcCagcaccaacgtcaacttcag	15	5	8	13	1	2	2	2	0	0	2	2	2	2	2	3	0	5	2	3	0	5	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:54955308C>A	ENST00000173898.7	+	12	2263	c.2151C>A	c.(2149-2151)gcC>gcA	p.A717A	TRO_ENST00000375041.2_Silent_p.A320A|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Silent_p.A248A|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	717					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGCAGATGCCAGCACCAACG	0.512													21	33					1.01871e-10	1.40282e-10	1	0	A	54955308	C	A	54955308	2	1	299	1	0	0	0	0	0	0	0	1	16669	581	21	4		4	TRO	23	54955308	Silent	SNP	C	TCGA-CV-7255-01A-11D-2012-08	4997931	54955308	100315252	120	53735											
ZXDB	158586	broad.mit.edu	37	chrX	57619372	57619372	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctgctgacgcacagcagCagccagggccagaggccctt	9	4	12	16	1	0	2	0	1	0	1	0	2	0	2	4	2	4	4	4	2	0	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:57619372C>T	ENST00000374888.1	+	1	1104	c.891C>T	c.(889-891)agC>agT	p.S297S		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	297	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CGCACAGCAGCAGCCAGGGCC	0.642													4	12					0	0	0	0	T	57619372	C	T	57619372	2	4	299	1	0	0	0	0	0	0	0	1	18342	709	25	4		4	ZXDB	23	57619372	Silent	SNP	C	TCGA-CV-7255-01A-11D-2012-08	2664064	57619372	97651188	121	53736											
ZXDA	7789	broad.mit.edu	37	chrX	57936696	57936696	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgccgccgcccgggcccGccatcttgggggccccgggg	1	4	17	19	7	1	0	0	0	1	0	2	0	1	0	7	5	0	0	7	5	0	1			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:57936696G>A	ENST00000358697.4	-	1	371	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	53					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						gcccgggcccgccATCTTGGG	0.786													7	12					0	0	0	0	A	57936696	G	A	57936696	2	1	299	1	0	0	0	0	0	0	0	1	18341	1074	38	1		1	ZXDA	23	57936696	Silent	SNP	G	TCGA-CV-7255-01A-11D-2012-08	317324	57936696	97333864	122	53737											
MAGT1	84061	broad.mit.edu	37	chrX	77112872	77112872	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattgacatcagttctgtcGgcgatccaccgggcaatctg	9	10	10	12	3	3	1	1	1	2	0	5	2	4	1	2	2	0	2	2	2	1	2			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:77112872G>A	ENST00000358075.6	-	4	695	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	171					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CAGTTCTGTCGGCGATCCACC	0.468													63	153					0	0	0	0	A	77112872	G	A	77112872	2	1	299	1	0	0	0	0	0	0	0	1	9265	1103	39	1		1	MAGT1	23	77112872	Silent	SNP	G	TCGA-CV-7255-01A-11D-2012-08	19176176	77112872	78157688	123	53738											
BRWD3	254065	broad.mit.edu	37	chrX	79978124	79978124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaattttcccgtcctggtaCcaaccgttggaattttgtgg	8	14	9	10	2	0	0	0	0	0	0	2	1	2	1	4	3	2	2	4	3	4	6			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:79978124C>T	ENST00000373275.4	-	17	2029	c.1813G>A	c.(1813-1815)Gta>Ata	p.V605I		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	605										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CGTCCTGGTACCAACCGTTGG	0.403													4	33					0	0	0	0	T	79978124	C	T	79978124	3	4	299	1	0	0	0	0	1	0	0	0	1534	507	18	4	3695	4	BRWD3	23	79978124	Missense_Mutation	SNP	C	TCGA-CV-7255-01A-11D-2012-08	2865252	79978124	75292436	124	53739											
MORF4L2	9643	broad.mit.edu	37	chrX	102931661	102931661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccgggcccttttcttccGagggggctgaggtgcttcgc	2	11	15	13	3	1	1	0	1	1	0	3	2	2	1	3	4	2	2	3	4	0	4			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:102931661G>A	ENST00000423833.2	-	3	1520	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	MORF4L2_ENST00000422154.2_Missense_Mutation_p.R99W|MORF4L2_ENST00000441076.2_Missense_Mutation_p.R99W|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000360458.1_Missense_Mutation_p.R99W|MORF4L2_ENST00000451301.1_Missense_Mutation_p.R99W|MORF4L2_ENST00000433176.2_Missense_Mutation_p.R99W			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	99					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CTTTTCTTCCGAGGGGGCTGA	0.512													34	134					0	0	0	0	A	102931661	G	A	102931661	3	1	299	1	0	0	0	0	1	0	0	0	9777	1057	37	1	575	1	MORF4L2	23	102931661	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	22953537	102931661	52338899	125	53740											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686191	125686191	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcactgtcccgcaagaggGgaatgcgcgcgatgtggcct	7	7	14	13	4	1	1	1	0	0	1	2	3	2	2	3	3	1	1	3	3	2	0			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:125686191G>C	ENST00000371126.1	-	1	643	c.401C>G	c.(400-402)cCc>cGc	p.P134R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	134										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCGCAAGAGGGGAATGCGCGC	0.632													17	72					0	0	0	0	C	125686191	G	C	125686191	3	2	299	1	0	0	0	0	1	0	0	0	4297	1232	43	4	994	4	DCAF12L1	23	125686191	Missense_Mutation	SNP	G	TCGA-CV-7255-01A-11D-2012-08	22754530	125686191	29584369	126	53741											
CELA3B	23436	broad.mit.edu	37	chr1	22313089	22313089	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggtccatggcgtgacCagctttgtttctgcctttgg	4	14	13	10	1	1	1	0	1	1	0	2	1	2	1	3	4	2	3	3	4	0	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:22313089C>G	ENST00000337107.6	+	7	727	c.708C>G	c.(706-708)acC>acG	p.T236T	CELA3B_ENST00000473526.1_3'UTR	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	236	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ATGGCGTGACCAGCTTTGTTT	0.607													11	30					0	0	0	0	G	22313089	C	G	22313089	2	3	300	1	0	0	0	0	0	0	0	1	3243	581	21	4		4	CELA3B	1	22313089	Silent	SNP	C	TCGA-CV-7261-01A-11D-2012-08		22313089	226937532	1	53742											
IGSF3	3321	broad.mit.edu	37	chr1	117131576	117131576	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtcttcaggataagcttgCcatcggcatccgagggcttg	7	11	13	10	2	2	0	1	0	1	0	4	2	3	1	2	4	2	3	2	4	1	4			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:117131576C>G	ENST00000369486.3	-	8	2945	c.2180G>C	c.(2179-2181)gGc>gCc	p.G727A	IGSF3_ENST00000318837.6_Missense_Mutation_p.G747A|IGSF3_ENST00000369483.1_Missense_Mutation_p.G747A	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	727	Ig-like C2-type 6.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GATAAGCTTGCCATCGGCATC	0.547													29	98					0	0	0	0	G	117131576	C	G	117131576	3	3	300	1	0	0	0	0	1	0	0	0	7654	739	26	4	1420	4	IGSF3	1	117131576	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	94818487	117131576	132119045	2	53743											
BCL9	607	broad.mit.edu	37	chr1	147092754	147092754	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttcctgccccgtcaccTggatggacctcttctccaaa	7	11	6	17	1	4	0	2	0	2	0	6	2	5	2	6	2	1	0	6	2	1	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:147092754T>A	ENST00000234739.3	+	8	3533	c.2793T>A	c.(2791-2793)ccT>ccA	p.P931P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	931	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCCCGTCACCTGGATGGACCT	0.582			T	"IGH@, IGL@"	B-ALL								17	114					0	0	0	0	A	147092754	T	A	147092754	2	1	300	1	0	0	0	0	0	0	0	1	1385	1567	55	5		5	BCL9	1	147092754	Silent	SNP	T	TCGA-CV-7261-01A-11D-2012-08	29961178	147092754	102157867	3	53744											
NBPF15	284565	broad.mit.edu	37	chr1	148594624	148594624	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgttccagatgggagTcatattcccacaataagcag	11	10	10	10	0	1	1	1	0	0	1	3	2	3	2	3	2	1	2	3	2	3	4			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:148594624T>C	ENST00000442702.2	+	21	3064	c.1997T>C	c.(1996-1998)gTc>gCc	p.V666A	NBPF15_ENST00000369187.3_Missense_Mutation_p.V666A	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	666	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CAGATGGGAGTCATATTCCCA	0.448													3	132					0	0	0	0	C	148594624	T	C	148594624	3	2	300	1	0	0	0	0	1	0	0	0	10265	1667	58	5	2055	5	NBPF15	1	148594624	Missense_Mutation	SNP	T	TCGA-CV-7261-01A-11D-2012-08	1501870	148594624	100655997	4	53745											
BCAN	63827	broad.mit.edu	37	chr1	156616600	156616600	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgttcacagaggaccgCgcttttcgcgtgcgcatcgc	6	8	11	16	7	1	1	1	0	0	1	3	2	1	2	2	1	1	3	2	1	0	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:156616600C>T	ENST00000329117.4	+	3	435	c.99C>T	c.(97-99)cgC>cgT	p.R33R	BCAN_ENST00000361588.5_Silent_p.R33R|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	33					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGAGGACCGCGCTTTTCGCG	0.697													5	20					0	0	0	0	T	156616600	C	T	156616600	2	4	300	1	0	0	0	0	0	0	0	1	1349	755	27	1		1	BCAN	1	156616600	Silent	SNP	C	TCGA-CV-7261-01A-11D-2012-08	8021976	156616600	92634021	5	53746											
NES	10763	broad.mit.edu	37	chr1	156640375	156640375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctgaccccagaggccaaGgtgaaggggcatcacttcca	10	6	11	14	0	2	3	1	2	1	1	3	3	3	3	5	4	0	1	5	4	2	1			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:156640375G>A	ENST00000368223.3	-	4	3737	c.3605C>T	c.(3604-3606)cCt>cTt	p.P1202L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1202	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGAGGCCAAGGTGAAGGGGC	0.647													5	104					0	0	0	0	A	156640375	G	A	156640375	3	1	300	1	0	0	0	0	1	0	0	0	10407	1000	35	4	1264	4	NES	1	156640375	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	23775	156640375	92610246	6	53747											
FCRL1	115350	broad.mit.edu	37	chr1	157776893	157776893	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggaagtgcaactcaccGgcaggttcacagagtggagc	14	5	13	9	1	2	1	2	0	0	1	2	3	2	3	1	4	3	3	1	4	4	1			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:157776893G>A	ENST00000358292.3	-	2	102	c.52_splice	c.e2+1	p.A17_splice	FCRL1_ENST00000368176.3_Splice_Site_p.A17_splice|FCRL1_ENST00000491942.1_Splice_Site_p.A17_splice	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	17	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCAACTCACCGGCAGGTTCAC	0.483													15	73					0	0	0	0	A	157776893	G	A	157776893	5	1	300	1	0	0	0	0	0	0	1	0	5839	1130	39	1	1344	1	FCRL1	1	157776893	Splice_Site	SNP	G	TCGA-CV-7261-01A-11D-2012-08	1136518	157776893	91473728	7	53748											
CD1C	911	broad.mit.edu	37	chr1	158262428	158262428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtcgccccagccttgggtCtggccagctgttgctggttt	3	12	13	13	1	1	0	0	0	1	0	2	0	1	0	4	3	3	4	4	3	0	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:158262428C>T	ENST00000368170.3	+	4	932	c.653C>T	c.(652-654)tCt>tTt	p.S218F		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	218	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGCCTTGGGTCTGGCCAGCTG	0.522													6	66					0	0	0	0	T	158262428	C	T	158262428	3	4	300	1	0	0	0	0	1	0	0	0	3005	913	32	2	667	2	CD1C	1	158262428	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	485535	158262428	90988193	8	53749											
OR10J1	26476	broad.mit.edu	37	chr1	159409809	159409809	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagactgtatatacattggtCattctcccaagaatgctctc	11	13	7	10	0	3	2	1	0	2	2	5	3	3	2	1	1	2	2	1	1	5	5			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:159409809C>T	ENST00000423932.3	+	1	298	c.261C>T	c.(259-261)gtC>gtT	p.V87V	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	87					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATACATTGGTCATTCTCCCAA	0.458													7	77					0	0	0	0	T	159409809	C	T	159409809	2	4	300	1	0	0	0	0	0	0	0	1	10981	813	29	2		2	OR10J1	1	159409809	Silent	SNP	C	TCGA-CV-7261-01A-11D-2012-08	1147381	159409809	89840812	9	53750											
CRB1	23418	broad.mit.edu	37	chr1	197390386	197390386	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtccatctggctacacCgggtccctgtgtgaaatcgc	7	11	10	13	2	1	1	0	1	1	0	4	1	3	1	3	2	1	1	3	2	3	2	rs62636282	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:197390386C>T	ENST00000367400.3	+	6	1563	c.1428C>T	c.(1426-1428)acC>acT	p.T476T	CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.T407T|CRB1_ENST00000538660.1_Silent_p.T476T|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.T364T|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Silent_p.T175T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	476	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGGCTACACCGGGTCCCTGT	0.502													12	57					0	0	0	0	T	197390386	C	T	197390386	2	4	300	1	0	0	0	0	0	0	0	1	3878	639	23	1		1	CRB1	1	197390386	Silent	SNP	C	TCGA-CV-7261-01A-11D-2012-08	37980577	197390386	51860235	10	53751											
RPS6KC1	26750	broad.mit.edu	37	chr1	213436131	213436131	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacatgccagaatgtgtctCtgaagaggctcgctcactca	11	9	10	11	1	3	3	2	1	1	2	5	4	3	3	1	1	2	2	1	1	3	0			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:213436131C>G	ENST00000366960.3	+	14	3212	c.3062C>G	c.(3061-3063)tCt>tGt	p.S1021C	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S809C|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S1009C|RPS6KC1_ENST00000543354.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1021	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAATGTGTCTCTGAAGAGGCT	0.428													22	42					0	0	0	0	G	213436131	C	G	213436131	3	3	300	1	0	0	0	0	1	0	0	0	13743	913	32	2	3116	2	RPS6KC1	1	213436131	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	16045745	213436131	35814490	11	53752											
TRIM58	25893	broad.mit.edu	37	chr1	248028119	248028119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggaggcggaggagcgagCgacgctgcagagactgcggg	8	3	21	9	5	0	1	0	0	0	1	0	7	0	4	0	5	4	3	0	5	0	0	rs138082117	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:248028119C>A	ENST00000366481.3	+	3	677	c.629C>A	c.(628-630)gCg>gAg	p.A210E		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	210						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGGAGCGAGCGACGCTGCAG	0.652													14	35					9.31168e-06	7.30609e-05	1	0	A	248028119	C	A	248028119	3	1	300	1	0	0	0	0	1	0	0	0	16626	768	27	3	639	3	TRIM58	1	248028119	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	34591988	248028119	1222502	12	53753											
NCOA1	8648	broad.mit.edu	37	chr2	24905921	24905921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaatcaggaggaattaatGaatacgagcgtctacagcat	16	9	9	7	2	2	1	1	1	1	0	2	4	2	3	0	2	5	1	0	2	7	4			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:24905921G>C	ENST00000405141.1	+	9	1167	c.456G>C	c.(454-456)atG>atC	p.M152I	NCOA1_ENST00000348332.3_Missense_Mutation_p.M152I|NCOA1_ENST00000538539.1_Missense_Mutation_p.M152I|NCOA1_ENST00000288599.5_Missense_Mutation_p.M152I|NCOA1_ENST00000407230.1_Start_Codon_SNP_p.M1I|NCOA1_ENST00000406961.1_Missense_Mutation_p.M152I|NCOA1_ENST00000395856.3_Missense_Mutation_p.M152I			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	152	PAS.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAATTAATGAATACGAGCG	0.378			T	PAX3	alveolar rhadomyosarcoma								3	42					0	0	0	0	C	24905921	G	C	24905921	3	2	300	1	0	0	0	0	1	0	0	0	10298	1290	45	2	470	2	NCOA1	2	24905921	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08		24905921	218293452	13	53754											
PSME4	23198	broad.mit.edu	37	chr2	54133994	54133994	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgctctgatatgttgtttTttcccatggagctggaaaac	9	15	10	7	0	1	1	0	1	1	0	2	3	2	3	1	2	3	4	1	2	3	5			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:54133994T>C	ENST00000404125.1	-	25	2851	c.2796A>G	c.(2794-2796)aaA>aaG	p.K932K	PSME4_ENST00000421748.2_Silent_p.K76K	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	932					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TATGTTGTTTTTTCCCATGGA	0.328													3	64					0	0	0	0	C	54133994	T	C	54133994	2	2	300	1	0	0	0	0	0	0	0	1	12788	1838	64	5		5	PSME4	2	54133994	Silent	SNP	T	TCGA-CV-7261-01A-11D-2012-08	29228073	54133994	189065379	14	53755											
TMSB10	9168	broad.mit.edu	37	chr2	85133166	85133166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagacaaaccagacatggggGaaatcgccagcttcgataag	15	5	11	10	2	0	2	0	0	0	2	2	4	0	3	2	2	2	1	2	2	3	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:85133166G>A	ENST00000233143.4	+	2	134	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_021103.3	NP_066926.1	P63313	TYB10_HUMAN	thymosin beta 10	9					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			endometrium(1)	1						AGACATGGGGGAAATCGCCAG	0.582													23	31					0	0	0	0	A	85133166	G	A	85133166	3	1	300	1	0	0	0	0	1	0	0	0	16348	1175	41	2	27	2	TMSB10	2	85133166	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	30999172	85133166	158066207	15	53756											
RGPD3	653489	broad.mit.edu	37	chr2	107040930	107040931	+	Frame_Shift_Ins	INS	-	-	A																															agaagccgctggcattcctcINSaaatttctgcttgaattctt																										TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:107040930_107040931insA	ENST00000409886.3	-	20	3579_3580	c.3492_3493insT	c.(3490-3495)ttaggafs	p.LG1164fs	RGPD3_ENST00000304514.7_Frame_Shift_Ins_p.LG1164fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1164	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGGCATTCCTCAAATTTCTGCT	0.436													74	75	---	---	---	---					A	107040931	-	A	107040930	7	5	300	1	0	1	1	0	0	0	0	0	13369	835	29	0	1799	0	RGPD3	2	107040930	Frame_Shift_Ins	INS	-	TCGA-CV-7261-01A-11D-2012-08	21907764	107040930	136158443	16	53757											
LRP1B	53353	broad.mit.edu	37	chr2	141093261	141093261	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtgcagttggggccattCagctgccctacgttgataga	7	11	13	10	1	1	2	1	1	0	1	1	2	1	2	2	3	4	4	2	3	2	5			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:141093261C>T	ENST00000389484.3	-	78	13010	c.12039G>A	c.(12037-12039)ctG>ctA	p.L4013L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4013					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGGGCCATTCAGCTGCCCTA	0.433										TSP Lung(27;0.18)			7	156					0	0	0	0	T	141093261	C	T	141093261	2	4	300	1	0	0	0	0	0	0	0	1	9019	813	29	2		2	LRP1B	2	141093261	Silent	SNP	C	TCGA-CV-7261-01A-11D-2012-08	34052331	141093261	102106112	17	53758											
XIRP2	129446	broad.mit.edu	37	chr2	168101029	168101029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaataattagaggaataTctgctcaagaaatacagact	18	11	6	6	0	3	3	2	0	1	3	3	4	3	4	0	1	2	1	0	1	8	5			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:168101029T>C	ENST00000409195.1	+	9	3216	c.3127T>C	c.(3127-3129)Tct>Cct	p.S1043P	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1043P|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S821P|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	868					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						TAGAGGAATATCTGCTCAAGA	0.353													9	19					0	0	0	0	C	168101029	T	C	168101029	3	2	300	1	0	0	0	0	1	0	0	0	17526	1435	50	5	3157	5	XIRP2	2	168101029	Missense_Mutation	SNP	T	TCGA-CV-7261-01A-11D-2012-08	27007768	168101029	75098344	18	53759											
XIRP2	129446	broad.mit.edu	37	chr2	168102825	168102825	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgactaaaactcaattattAaacagatcaactgaatttca	18	13	3	7	0	3	3	3	2	0	1	3	3	3	3	0	0	3	0	0	0	8	5			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:168102825A>G	ENST00000409195.1	+	9	5012	c.4923A>G	c.(4921-4923)ttA>ttG	p.L1641L	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L1641L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L1419L|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1466					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						CTCAATTATTAAACAGATCAA	0.328													8	30					0	0	0	0	G	168102825	A	G	168102825	2	3	300	1	0	0	0	0	0	0	0	1	17526	359	13	5		5	XIRP2	2	168102825	Silent	SNP	A	TCGA-CV-7261-01A-11D-2012-08	1796	168102825	75096548	19	53760											
LRP2	4036	broad.mit.edu	37	chr2	170062018	170062018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacccagtagagaaggtcCtcttcatagtccagagtcag	11	9	9	12	0	3	2	2	0	1	2	6	3	6	2	4	1	0	1	4	1	3	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr2:170062018C>A	ENST00000263816.3	-	41	7971	c.7686G>T	c.(7684-7686)gaG>gaT	p.E2562D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2562					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGAGAAGGTCCTCTTCATAGT	0.483													11	100					0.00136819	0.00804025	1	0	A	170062018	C	A	170062018	3	1	300	1	0	0	0	0	1	0	0	0	9020	680	24	4	6437	4	LRP2	2	170062018	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	1959193	170062018	73137355	20	53761											
TTN	7273	broad.mit.edu	37	chr2	179435389	179435389	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cggtgctctttatttctaatCgagctgtgtttgaaagctcc	7	16	9	9	2	2	1	0	1	2	0	4	2	3	1	1	1	3	4	1	1	3	5			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:179435389C>G	ENST00000589042.1	-	326	75694	c.75470G>C	c.(75469-75471)cGa>cCa	p.R25157P	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22589P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16092P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23516P|TTN_ENST00000359218.5_Missense_Mutation_p.R16217P|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16284P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23516	Fibronectin type-III 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R22587L(1)|p.R16284L(1)|p.R16092L(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)			TATTTCTAATCGAGCTGTGTT	0.413													10	99					0	0	0	0	G	179435389	C	G	179435389	3	3	300	1	0	0	0	0	1	0	0	0	16831	884	31	3	32657	3	TTN	2	179435389	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	9373371	179435389	63763984	21	53762											
TTN	7273	broad.mit.edu	37	chr2	179640223	179640223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccagtaccagtagatcCggtcagaccgttcaattttg	9	10	11	11	3	2	2	2	0	0	2	3	2	3	2	4	2	1	3	4	2	3	5			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:179640223C>T	ENST00000589042.1	-	28	6592	c.6368G>A	c.(6367-6369)cGg>cAg	p.R2123Q	TTN_ENST00000342992.6_Missense_Mutation_p.R2123Q|TTN_ENST00000460472.2_Missense_Mutation_p.R2077Q|TTN_ENST00000591111.1_Missense_Mutation_p.R2123Q|TTN_ENST00000360870.5_Missense_Mutation_p.R2123Q|TTN_ENST00000359218.5_Missense_Mutation_p.R2077Q|TTN_ENST00000342175.6_Missense_Mutation_p.R2077Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1886	Ig-like 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)			CCAGTAGATCCGGTCAGACCG	0.483													16	38					0	0	0	0	T	179640223	C	T	179640223	3	4	300	1	0	0	0	0	1	0	0	0	16831	652	23	1	104960	1	TTN	2	179640223	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	204834	179640223	63559150	22	53763											
TTLL4	9654	broad.mit.edu	37	chr2	219603790	219603790	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaactcttggcatagccaAcgtggccacccgcctctctt	8	10	7	16	2	3	0	1	0	2	0	4	0	3	0	4	2	3	1	4	2	3	3	rs148659460	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:219603790A>G	ENST00000392102.1	+	3	1731	c.1391A>G	c.(1390-1392)aAc>aGc	p.N464S	TTLL4_ENST00000258398.4_Missense_Mutation_p.N464S|TTLL4_ENST00000457313.1_Missense_Mutation_p.N299S|TTLL4_ENST00000442769.1_Missense_Mutation_p.N464S	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	464					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GGCATAGCCAACGTGGCCACC	0.532													12	12					0	0	0	0	G	219603790	A	G	219603790	3	3	300	1	0	0	0	0	1	0	0	0	16825	43	2	5	1393	5	TTLL4	2	219603790	Missense_Mutation	SNP	A	TCGA-CV-7261-01A-11D-2012-08	39963567	219603790	23595583	23	53764											
CCDC108	255101	broad.mit.edu	37	chr2	219888039	219888039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcagacgcgaggggttgcGgaaggtgaaggggctggtgg	7	5	24	5	3	0	2	0	1	0	1	0	4	0	3	0	9	1	3	0	9	2	1	rs138095762		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:219888039G>A	ENST00000341552.5	-	16	2793	c.2710C>T	c.(2710-2712)Cgc>Tgc	p.R904C	CCDC108_ENST00000453220.1_Missense_Mutation_p.R904C|CCDC108_ENST00000441968.1_Missense_Mutation_p.R904C	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	904	MSP.					integral to membrane	structural molecule activity	p.R904C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGGGTTGCGGAAGGTGAAG	0.637													9	23					0	0	0	0	A	219888039	G	A	219888039	3	1	300	1	0	0	0	0	1	0	0	0	2768	1116	39	1	3147	1	CCDC108	2	219888039	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	284249	219888039	23311334	24	53765											
CNTN6	27255	broad.mit.edu	37	chr3	1415634	1415634	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattctcaatggtaagacaTacaatgcaacagtggttggt	15	11	9	6	0	1	1	1	0	1	1	2	1	1	1	0	3	3	3	0	3	6	4			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:1415634T>C	ENST00000446702.2	+	16	2599	c.1972T>C	c.(1972-1974)Tac>Cac	p.Y658H	CNTN6_ENST00000350110.2_Missense_Mutation_p.Y658H|CNTN6_ENST00000539053.1_Missense_Mutation_p.Y586H			Q9UQ52	CNTN6_HUMAN	contactin 6	658	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGGTAAGACATACAATGCAAC	0.383													3	26					0	0	0	0	C	1415634	T	C	1415634	3	2	300	1	0	0	0	0	1	0	0	0	3675	1406	49	5	2030	5	CNTN6	3	1415634	Missense_Mutation	SNP	T	TCGA-CV-7261-01A-11D-2012-08		1415634	196606796	25	53766											
CCRL2	9034	broad.mit.edu	37	chr3	46449784	46449784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatataaaggactcaaacgcGtggaaaatatctatcttcta	17	11	6	7	2	4	0	1	0	3	0	4	2	4	2	0	2	1	0	0	2	10	6			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:46449784G>A	ENST00000399036.3	+	2	566	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	ACKR5_ENST00000400880.3_Missense_Mutation_p.V72M|ACKR5_ENST00000400882.2_Missense_Mutation_p.V72M|ACKR5_ENST00000357392.4_Missense_Mutation_p.V84M	NM_003965.4	NP_003956.2																					ACTCAAACGCGTGGAAAATAT	0.468													23	31					0	0	0	0	A	46449784	G	A	46449784	3	1	300	1	0	0	0	0	1	0	0	0	2979	1145	40	1	256	1	CCRL2	3	46449784	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	45034150	46449784	151572646	26	53767											
RBM6	10180	broad.mit.edu	37	chr3	50103889	50103889	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcagaaggcagtttcccaAtaaagaagttctgatcaaac	15	10	8	8	0	2	3	1	1	1	2	3	3	3	3	1	1	2	4	1	1	6	4			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:50103889A>T	ENST00000443081.1	+	17	3420	c.2501A>T	c.(2500-2502)aAt>aTt	p.N834I	RBM6_ENST00000539992.1_Missense_Mutation_p.N308I|RBM6_ENST00000422955.1_Missense_Mutation_p.N444I|RBM6_ENST00000442092.1_Missense_Mutation_p.N444I|RBM6_ENST00000421682.1_5'UTR|RBM6_ENST00000266022.4_Missense_Mutation_p.N966I			P78332	RBM6_HUMAN	RNA binding motif protein 6	966					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CAGTTTCCCAATAAAGAAGTT	0.478													50	65					0	0	0	0	T	50103889	A	T	50103889	3	4	300	1	0	0	0	0	1	0	0	0	13226	101	4	5	2959	5	RBM6	3	50103889	Missense_Mutation	SNP	A	TCGA-CV-7261-01A-11D-2012-08	3654105	50103889	147918541	27	53768											
PARP14	54625	broad.mit.edu	37	chr3	122418794	122418794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaattaaaagggaagagCaaagtttgaaggaaaaaatg	24	6	10	1	0	0	2	0	1	0	1	0	4	0	4	0	2	1	2	0	2	11	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:122418794C>A	ENST00000474629.2	+	6	1659	c.1393C>A	c.(1393-1395)Caa>Aaa	p.Q465K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAGGGAAGAGCAAAGTTTGAA	0.403													30	27					2.12542e-12	1.75778e-11	1	0	A	122418794	C	A	122418794	3	1	300	1	0	0	0	0	1	0	0	0	11529	711	25	4	1415	4	PARP14	3	122418794	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	72314905	122418794	75603636	28	53769											
KALRN	8997	broad.mit.edu	37	chr3	124431825	124431825	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcattcacaaagctaccCgcaaagatgtggctgtgaaa	15	8	9	9	1	1	2	1	1	0	1	1	2	1	2	1	1	3	4	1	1	5	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:124431825C>A	ENST00000360013.3	+	58	8246	c.8119C>A	c.(8119-8121)Cgc>Agc	p.R2707S	KALRN_ENST00000428018.2_Missense_Mutation_p.R978S|KALRN_ENST00000291478.4_Missense_Mutation_p.R1010S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2706	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAAGCTACCCGCAAAGATGT	0.413													17	55					2.23348e-06	1.77518e-05	1	0	A	124431825	C	A	124431825	3	1	300	1	0	0	0	0	1	0	0	0	8028	652	23	3	8505	3	KALRN	3	124431825	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	2013031	124431825	73590605	29	53770											
PLXNA1	5361	broad.mit.edu	37	chr3	126747877	126747877	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcatcatcctgcaggacGaggacgtcaccaccaagatt	11	6	10	14	4	2	1	2	0	0	1	3	4	3	3	3	2	1	2	3	2	1	1			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:126747877G>T	ENST00000251772.4	+	25	4711	c.4642G>T	c.(4642-4644)Gag>Tag	p.E1548*	PLXNA1_ENST00000393409.2_Nonsense_Mutation_p.E1571*			Q9UIW2	PLXA1_HUMAN	plexin A1	1571					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGCAGGACGAGGACGTCAC	0.657													16	40					3.57192e-18	3.03613e-17	1	0	T	126747877	G	T	126747877	4	4	300	1	0	0	0	0	0	1	0	0	12191	1059	37	3	4809	3	PLXNA1	3	126747877	Nonsense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	2316052	126747877	71274553	30	53771											
IFT122	55764	broad.mit.edu	37	chr3	129182445	129182445	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgtctccaaacacaaatCaagcagcaagatcatctgct	14	9	6	12	0	5	1	2	0	3	1	6	1	5	1	1	0	4	3	1	0	4	0			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:129182445C>G	ENST00000296266.3	+	7	737	c.545C>G	c.(544-546)tCa>tGa	p.S182*	IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000507564.1_Nonsense_Mutation_p.S182*|IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000349441.2_Nonsense_Mutation_p.S79*|IFT122_ENST00000348417.2_Nonsense_Mutation_p.S131*|IFT122_ENST00000347300.2_Nonsense_Mutation_p.S131*|IFT122_ENST00000504021.1_Nonsense_Mutation_p.S84*	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	131					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AAACACAAATCAAGCAGCAAG	0.398													4	61					0	0	0	0	G	129182445	C	G	129182445	4	3	300	1	0	0	0	0	0	1	0	0	7608	838	29	2	571	2	IFT122	3	129182445	Nonsense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	2434568	129182445	68839985	31	53772											
SLC9A9	285195	broad.mit.edu	37	chr3	142987754	142987754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtaagcagcctggaaatcGgaccacaccattcaggtaat	13	8	10	10	1	1	0	1	0	0	0	2	2	1	2	3	4	2	3	3	4	3	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:142987754G>A	ENST00000316549.6	-	15	1881	c.1673C>T	c.(1672-1674)cCg>cTg	p.P558L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	558					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CCTGGAAATCGGACCACACCA	0.478													7	171					0	0	0	0	A	142987754	G	A	142987754	3	1	300	1	0	0	0	0	1	0	0	0	14809	1116	39	1	272	1	SLC9A9	3	142987754	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	13805309	142987754	55034676	32	53773											
SI	6476	broad.mit.edu	37	chr3	164727148	164727148	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactctgctgtggaagtcctGaagaaatctgggaaagctac	12	9	11	9	0	2	2	0	1	2	1	3	4	3	4	1	2	3	2	1	2	5	1			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:164727148G>A	ENST00000264382.3	-	35	4160	c.4098C>T	c.(4096-4098)ttC>ttT	p.F1366F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1366	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGGAAGTCCTGAAGAAATCTG	0.378										HNSCC(35;0.089)			60	46					0	0	0	0	A	164727148	G	A	164727148	2	1	300	1	0	0	0	0	0	0	0	1	14385	1281	45	2		2	SI	3	164727148	Silent	SNP	G	TCGA-CV-7261-01A-11D-2012-08	21739394	164727148	33295282	33	53774											
PIK3CA	5290	broad.mit.edu	37	chr3	178922325	178922325	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtatctaccatggaggagAacccttatgtgacaatgtga	13	10	11	7	0	1	3	0	2	1	1	1	5	1	4	2	3	2	1	2	3	5	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:178922325A>T	ENST00000263967.3	+	6	1251	c.1094A>T	c.(1093-1095)gAa>gTa	p.E365V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	365	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGGAGGAGAACCCTTATGT	0.343		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			40	122					0	0	0	0	T	178922325	A	T	178922325	3	4	300	1	0	0	0	0	1	0	0	0	11985	246	9	5	1112	5	PIK3CA	3	178922325	Missense_Mutation	SNP	A	TCGA-CV-7261-01A-11D-2012-08	14195177	178922325	19100105	34	53775											
MAP6D1	79929	broad.mit.edu	37	chr3	183535795	183535795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgacctggaagccggccCcagggctgctgtcccatccc	5	6	13	17	1	0	1	0	1	0	0	2	2	2	2	6	4	2	3	6	4	1	0			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:183535795C>T	ENST00000318631.3	-	2	536	c.506G>A	c.(505-507)gGg>gAg	p.G169E	MAP6D1_ENST00000431348.1_Missense_Mutation_p.G169E	NM_024871.2	NP_079147.1	Q9H9H5	MA6D1_HUMAN	MAP6 domain containing 1	169						cytoskeleton				endometrium(1)|lung(1)	2	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAAGCCGGCCCCAGGGCTGCT	0.567													78	78					0	0	0	0	T	183535795	C	T	183535795	3	4	300	1	0	0	0	0	1	0	0	0	9334	623	22	4	101	4	MAP6D1	3	183535795	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	4613470	183535795	14486635	35	53776											
ATP13A4	84239	broad.mit.edu	37	chr3	193171990	193171990	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctgaagttcgctaacaaAactagtgggtactgtttaga	14	12	9	6	1	1	2	0	1	1	1	2	2	1	2	0	1	3	4	0	1	8	6			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:193171990A>C	ENST00000342695.4	-	17	2249	c.1927T>G	c.(1927-1929)Ttt>Gtt	p.F643V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.F624V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	643					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCGCTAACAAAACTAGTGGGT	0.433													8	89					0	0	0	0	C	193171990	A	C	193171990	3	2	300	1	0	0	0	0	1	0	0	0	1130	14	1	5	1719	5	ATP13A4	3	193171990	Missense_Mutation	SNP	A	TCGA-CV-7261-01A-11D-2012-08	9636195	193171990	4850440	36	53777											
CFI	3426	broad.mit.edu	37	chr4	110687902	110687902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatggctggcagaagaCtttatcgcaggagaggtgag	10	8	15	8	1	0	4	0	1	0	3	1	5	0	4	1	4	1	3	1	4	2	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr4:110687902C>T	ENST00000394634.2	-	2	343	c.136G>A	c.(136-138)Gtc>Atc	p.V46I	CFI_ENST00000512148.1_Missense_Mutation_p.V46I|CFI_ENST00000394635.3_Missense_Mutation_p.V46I|CFI_ENST00000510800.1_Missense_Mutation_p.V46I	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	46					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TGGCAGAAGACTTTATCGCAG	0.428													4	46					0	0	0	0	T	110687902	C	T	110687902	3	4	300	1	0	0	0	0	1	0	0	0	3318	565	20	4	1663	4	CFI	4	110687902	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08		110687902	80466374	37	53778											
KLKB1	3818	broad.mit.edu	37	chr4	187155200	187155200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attccttgaagcaatgtggtCatcaaataagtggtaagttg	13	13	10	5	0	2	1	2	1	0	0	3	1	3	1	1	2	1	3	1	2	5	5			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr4:187155200C>T	ENST00000264690.6	+	4	503	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	KLKB1_ENST00000513864.1_Missense_Mutation_p.H106Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	106					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GCAATGTGGTCATCAAATAAG	0.383													6	30					0	0	0	0	T	187155200	C	T	187155200	3	4	300	1	0	0	0	0	1	0	0	0	8464	826	29	2	326	2	KLKB1	4	187155200	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	76467298	187155200	3999076	38	53779											
HCN1	348980	broad.mit.edu	37	chr5	45262058	45262058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatcgtggcttttctgcgtCtgggtctgtgtttaagactg	6	16	12	7	2	3	1	0	0	3	1	4	1	3	1	0	2	1	2	0	2	2	4			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr5:45262058C>T	ENST00000303230.4	-	8	2695	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	880						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTTTCTGCGTCTGGGTCTGTG	0.483													7	161					0	0	0	0	T	45262058	C	T	45262058	3	4	300	1	0	0	0	0	1	0	0	0	7046	913	32	2	38	2	HCN1	5	45262058	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08		45262058	135653202	39	53780											
GABRG2	2566	broad.mit.edu	37	chr5	161580208	161580208	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgtctggacggcaaggActgtgccagttttttctgct	6	14	13	8	1	2	1	0	1	2	0	2	3	2	3	1	3	2	3	1	3	1	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr5:161580208A>G	ENST00000356592.3	+	10	1722	c.1262A>G	c.(1261-1263)gAc>gGc	p.D421G	GABRG2_ENST00000361925.4_Missense_Mutation_p.D413G|GABRG2_ENST00000414552.2_Missense_Mutation_p.D461G|GABRG2_ENST00000393933.4_Missense_Mutation_p.D318G	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	413					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GACGGCAAGGACTGTGCCAGT	0.458													10	61					0	0	0	0	G	161580208	A	G	161580208	3	3	300	1	0	0	0	0	1	0	0	0	6220	275	10	5	1424	5	GABRG2	5	161580208	Missense_Mutation	SNP	A	TCGA-CV-7261-01A-11D-2012-08	116318150	161580208	19335052	40	53781											
TREML2	79865	broad.mit.edu	37	chr6	41166104	41166104	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcccttataggagcacTgcacagacagagtctcccct	10	9	9	13	0	1	2	0	0	1	2	2	3	1	3	3	1	3	3	3	1	3	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:41166104T>G	ENST00000483722.1	-	2	304	c.119A>C	c.(118-120)cAg>cCg	p.Q40P		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	40	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATAGGAGCACTGCACAGACAG	0.502													8	169					0	0	0	0	G	41166104	T	G	41166104	3	3	300	1	0	0	0	0	1	0	0	0	16568	1580	55	5	862	5	TREML2	6	41166104	Missense_Mutation	SNP	T	TCGA-CV-7261-01A-11D-2012-08		41166104	129948963	41	53782											
GABRR1	2569	broad.mit.edu	37	chr6	89926972	89926972	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccgggccagtgcattctgcTttcagtggccaaaacccatc	8	10	9	14	1	2	0	1	0	1	0	4	0	3	0	4	2	3	2	4	2	2	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:89926972T>A	ENST00000435811.1	-	1	524	c.70A>T	c.(70-72)Agc>Tgc	p.S24C	GABRR1_ENST00000369451.3_Intron|GABRR1_ENST00000481493.1_5'UTR|GABRR1_ENST00000454853.2_Missense_Mutation_p.S24C	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	24					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TGCATTCTGCTTTCAGTGGCC	0.463													11	34					0	0	0	0	A	89926972	T	A	89926972	3	1	300	1	0	0	0	0	1	0	0	0	6224	1609	56	5	1409	5	GABRR1	6	89926972	Missense_Mutation	SNP	T	TCGA-CV-7261-01A-11D-2012-08	48760868	89926972	81188095	42	53783											
RFX6	222546	broad.mit.edu	37	chr6	117216368	117216368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaagcaagctaaagaatGaggtaagaattattttcatc	16	11	9	5	0	1	3	1	1	0	2	2	4	1	4	0	2	2	3	0	2	8	5			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:117216368G>A	ENST00000332958.2	+	6	686	c.670G>A	c.(670-672)Gag>Aag	p.E224K	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	224					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCTAAAGAATGAGGTAAGAAT	0.289													10	29					0	0	0	0	A	117216368	G	A	117216368	3	1	300	1	0	0	0	0	1	0	0	0	13349	1291	45	2	692	2	RFX6	6	117216368	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	27289396	117216368	53898699	43	53784											
HEY2	23493	broad.mit.edu	37	chr6	126080846	126080846	+	Silent	SNP	C	C	T																															gccgcggccacagccatcagCccgcccttgtcagtatcagc																										TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:126080846C>T	ENST00000368364.3	+	5	1109	c.912C>T	c.(910-912)agC>agT	p.S304S	HEY2_ENST00000368365.1_Silent_p.S258S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	304					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CAGCCATCAGCCCGCCCTTGT	0.607													56	103					0	0	0	0	T	126080846	C	T	126080846	2	4	300	1	0	0	0	0	0	0	0	1	7129	738	26	4		4	HEY2	6	126080846	Silent	SNP	C	TCGA-CV-7261-01A-11D-2012-08	8864478	126080846	45034221	44	53785	428	2									
HEY2	23493	broad.mit.edu	37	chr6	126080849	126080849	+	Silent	SNP	G	G	T																															gcggccacagccatcagcccGcccttgtcagtatcagccac																										TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:126080849G>T	ENST00000368364.3	+	5	1112	c.915G>T	c.(913-915)ccG>ccT	p.P305P	HEY2_ENST00000368365.1_Silent_p.P259P	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	305					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCATCAGCCCGCCCTTGTCAG	0.597													54	103					4.6707e-30	4.08353e-29	1	0	T	126080849	G	T	126080849	2	4	300	1	0	0	0	0	0	0	0	1	7129	1074	38	3		3	HEY2	6	126080849	Silent	SNP	G	TCGA-CV-7261-01A-11D-2012-08	3	126080849	45034218	45	53786	428	2									
EYA4	2070	broad.mit.edu	37	chr6	133783512	133783512	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacaccagcagctcaaacAatgtctgcctatgcaggcca	12	8	7	14	0	3	0	1	0	2	0	3	0	3	0	3	1	6	3	3	1	4	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:133783512A>G	ENST00000367895.5	+	8	941	c.477A>G	c.(475-477)acA>acG	p.T159T	EYA4_ENST00000355167.3_Silent_p.T159T|EYA4_ENST00000430974.2_Silent_p.T105T|EYA4_ENST00000531901.1_Silent_p.T159T|EYA4_ENST00000525849.1_Silent_p.T136T|EYA4_ENST00000452339.2_Silent_p.T105T|EYA4_ENST00000431403.2_Silent_p.T159T|EYA4_ENST00000355286.6_Silent_p.T136T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	159					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGCTCAAACAATGTCTGCCT	0.478													27	98					0	0	0	0	G	133783512	A	G	133783512	2	3	300	1	0	0	0	0	0	0	0	1	5369	117	5	5		5	EYA4	6	133783512	Silent	SNP	A	TCGA-CV-7261-01A-11D-2012-08	7702663	133783512	37331555	46	53787											
STX11	8676	broad.mit.edu	37	chr6	144508185	144508185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctcaccctcaccttccagCgcgccatgcacgactacaac	9	6	6	20	4	2	0	2	0	0	0	3	1	3	0	4	0	4	2	4	0	2	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr6:144508185C>A	ENST00000367568.4	+	2	604	c.421C>A	c.(421-423)Cgc>Agc	p.R141S		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	141					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CACCTTCCAGCGCGCCATGCA	0.657									Familial Hemophagocytic Lymphohistiocytosis				13	28					0.00136819	0.00804025	1	0	A	144508185	C	A	144508185	3	1	300	1	0	0	0	0	1	0	0	0	15427	768	27	3	423	3	STX11	6	144508185	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	10724673	144508185	26606882	47	53788											
STARD3NL	83930	broad.mit.edu	37	chr7	38247206	38247206	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaccccacacaactcaTggccaggattgagtcctatg	12	8	7	14	0	2	1	2	1	0	0	3	2	3	2	4	2	2	0	4	2	3	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:38247206T>A	ENST00000009041.7	+	2	358	c.101T>A	c.(100-102)aTg>aAg	p.M34K	STARD3NL_ENST00000544203.1_Missense_Mutation_p.M27K|STARD3NL_ENST00000396013.1_Missense_Mutation_p.M34K|STARD3NL_ENST00000434197.1_Missense_Mutation_p.M34K	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	34						integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						ACACAACTCATGGCCAGGATT	0.483													39	23					0	0	0	0	A	38247206	T	A	38247206	3	1	300	1	0	0	0	0	1	0	0	0	15348	1464	51	5	103	5	STARD3NL	7	38247206	Missense_Mutation	SNP	T	TCGA-CV-7261-01A-11D-2012-08		38247206	120891457	48	53789											
GLI3	2737	broad.mit.edu	37	chr7	42065866	42065866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtagggatccctggaatagGcctctgtgttggaaaagttg	9	11	14	7	1	1	0	0	0	1	0	2	3	2	3	2	4	0	3	2	4	5	4			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:42065866G>T	ENST00000395925.3	-	8	1258	c.1174C>A	c.(1174-1176)Cct>Act	p.P392T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	392					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCTGGAATAGGCCTCTGTGTT	0.587									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				10	10					4.68919e-08	3.80104e-07	1	0	T	42065866	G	T	42065866	3	4	300	1	0	0	0	0	1	0	0	0	6490	1203	42	4	3600	4	GLI3	7	42065866	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	3818660	42065866	117072797	49	53790											
POM121L12	285877	broad.mit.edu	37	chr7	53104106	53104106	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctggagcctcagttttTgtgatgatgcttggccttcc	4	14	11	12	0	1	2	1	2	0	0	2	3	2	3	5	2	2	2	5	2	0	4			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:53104106T>G	ENST00000408890.4	+	1	758	c.742T>G	c.(742-744)Tgt>Ggt	p.C248G		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	248										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTCAGTTTTTGTGATGATGC	0.632													5	60					0	0	0	0	G	53104106	T	G	53104106	3	3	300	1	0	0	0	0	1	0	0	0	12313	1812	63	5	744	5	POM121L12	7	53104106	Missense_Mutation	SNP	T	TCGA-CV-7261-01A-11D-2012-08	11038240	53104106	106034557	50	53791											
GRM3	2913	broad.mit.edu	37	chr7	86394698	86394698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtttgctattgatgaaatCaacaaagatgattacttgct	13	16	7	5	0	1	4	1	3	0	1	1	4	1	4	0	0	4	3	0	0	5	6			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:86394698C>T	ENST00000361669.2	+	2	1336	c.237C>T	c.(235-237)atC>atT	p.I79I	GRM3_ENST00000394720.2_Silent_p.I77I|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.I79I|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	79					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTGATGAAATCAACAAAGATG	0.423													48	120					0	0	0	0	T	86394698	C	T	86394698	2	4	300	1	0	0	0	0	0	0	0	1	6848	816	29	2		2	GRM3	7	86394698	Silent	SNP	C	TCGA-CV-7261-01A-11D-2012-08	33290592	86394698	72743965	51	53792											
ABCB4	5244	broad.mit.edu	37	chr7	87037431	87037431	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagccactgctgcccacCagggctagtgtctggccttt	6	9	10	16	0	1	0	0	0	1	0	1	0	1	0	5	2	3	2	5	2	1	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:87037431C>A	ENST00000265723.4	-	25	3312	c.3201G>T	c.(3199-3201)ctG>ctT	p.L1067L	ABCB4_ENST00000359206.3_Silent_p.L1067L|ABCB4_ENST00000358400.3_Silent_p.L1020L|ABCB4_ENST00000545634.1_Silent_p.L1067L|ABCB4_ENST00000453593.1_Silent_p.L1020L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1067	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TGCTGCCCACCAGGGCTAGTG	0.562													36	112					4.11147e-13	3.44688e-12	1	0	A	87037431	C	A	87037431	2	1	300	1	0	0	0	0	0	0	0	1	43	581	21	4		4	ABCB4	7	87037431	Silent	SNP	C	TCGA-CV-7261-01A-11D-2012-08	642733	87037431	72101232	52	53793											
ABCB4	5244	broad.mit.edu	37	chr7	87069068	87069068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaggatcttggggttgCgaaccagggcacgtgcaatg	10	7	16	8	2	1	1	0	0	1	1	1	3	1	2	1	4	3	4	1	4	3	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:87069068C>A	ENST00000265723.4	-	14	1757	c.1646G>T	c.(1645-1647)cGc>cTc	p.R549L	ABCB4_ENST00000359206.3_Missense_Mutation_p.R549L|ABCB4_ENST00000358400.3_Missense_Mutation_p.R549L|ABCB4_ENST00000545634.1_Missense_Mutation_p.R549L|ABCB4_ENST00000453593.1_Missense_Mutation_p.R549L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	549	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTTGGGGTTGCGAACCAGGGC	0.532													8	131					0.000274275	0.00208517	1	0	A	87069068	C	A	87069068	3	1	300	1	0	0	0	0	1	0	0	0	43	768	27	3	2274	3	ABCB4	7	87069068	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	31637	87069068	72069595	53	53794											
PIK3CG	5294	broad.mit.edu	37	chr7	106508169	106508169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgcaaatgcaagagccccGaaacggcgctgctgcacgtg	11	4	13	13	5	0	1	0	0	0	1	0	2	0	1	2	1	6	5	2	1	3	0			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:106508169G>A	ENST00000359195.3	+	2	473	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	PIK3CG_ENST00000496166.1_Missense_Mutation_p.E55K|PIK3CG_ENST00000440650.2_Missense_Mutation_p.E55K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	55					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAAGAGCCCCGAAACGGCGCT	0.667													32	44					0	0	0	0	A	106508169	G	A	106508169	3	1	300	1	0	0	0	0	1	0	0	0	11988	1059	37	1	165	1	PIK3CG	7	106508169	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	19439101	106508169	52630494	54	53795											
OR9A2	135924	broad.mit.edu	37	chr7	142724094	142724094	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaatcacaatgatgacCgtgtttcccattaatgtcac	13	11	6	11	1	2	3	2	2	0	1	3	3	3	3	2	0	0	1	2	0	3	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:142724094C>T	ENST00000350513.2	-	1	188	c.126G>A	c.(124-126)acG>acA	p.T42T		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CAATGATGACCGTGTTTCCCA	0.443													13	130					0	0	0	0	T	142724094	C	T	142724094	2	4	300	1	0	0	0	0	0	0	0	1	11319	639	23	1		1	OR9A2	7	142724094	Silent	SNP	C	TCGA-CV-7261-01A-11D-2012-08	36215925	142724094	16414569	55	53796											
GBX1	2636	broad.mit.edu	37	chr7	150846025	150846025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacccctgctgtcaccggtGccccctcctcagctccagtc	4	9	8	20	1	2	1	2	1	0	0	5	1	4	1	7	1	3	2	7	1	0	0			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:150846025G>T	ENST00000297537.4	-	2	742	c.743C>A	c.(742-744)gCa>gAa	p.A248E		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	248						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCACCGGTGCCCCCTCCTC	0.597													15	161					1.52009e-12	1.26571e-11	1	0	T	150846025	G	T	150846025	3	4	300	1	0	0	0	0	1	0	0	0	6329	1319	46	4	351	4	GBX1	7	150846025	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	8121931	150846025	8292638	56	53797											
ADAM2	2515	broad.mit.edu	37	chr8	39624380	39624380	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatacctttgccaaatgtGtctgtacattgtttatcccc	10	16	5	10	0	1	0	0	0	1	0	2	0	2	0	4	0	3	2	4	0	6	7			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:39624380G>A	ENST00000265708.4	-	14	1597	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D	ADAM2_ENST00000379853.2_Silent_p.D372D|ADAM2_ENST00000347580.4_Silent_p.D479D|ADAM2_ENST00000521880.1_Silent_p.D498D	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	498	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGCCAAATGTGTCTGTACATT	0.363													10	71					0	0	0	0	A	39624380	G	A	39624380	2	1	300	1	0	0	0	0	0	0	0	1	241	1368	48	4		4	ADAM2	8	39624380	Silent	SNP	G	TCGA-CV-7261-01A-11D-2012-08		39624380	106739642	57	53798											
RP1	6101	broad.mit.edu	37	chr8	55534743	55534743	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcaggaagggagccatttAaaccaggaaattatgacatc	15	7	11	8	1	0	1	0	1	0	0	1	4	0	4	2	4	2	1	2	4	5	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:55534743A>T	ENST00000220676.1	+	3	830	c.682A>T	c.(682-684)Aaa>Taa	p.K228*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	228	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGAGCCATTTAAACCAGGAAA	0.493													12	21					0	0	0	0	T	55534743	A	T	55534743	4	4	300	1	0	0	0	0	0	1	0	0	13617	363	13	5	688	5	RP1	8	55534743	Nonsense_Mutation	SNP	A	TCGA-CV-7261-01A-11D-2012-08	15910363	55534743	90829279	58	53799											
PEX2	5828	broad.mit.edu	37	chr8	77896342	77896342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccagggccttgtttaGttcaagtgcatccaactggc	7	12	10	12	0	1	0	1	0	0	0	3	0	3	0	3	2	3	4	3	2	3	4			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:77896342G>T	ENST00000419564.2	-	4	537	c.73C>A	c.(73-75)Cta>Ata	p.L25I	PEX2_ENST00000520103.1_Missense_Mutation_p.L25I|PEX2_ENST00000357039.4_Missense_Mutation_p.L25I|PEX2_ENST00000522527.1_Missense_Mutation_p.L25I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	25					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						GCCTTGTTTAGTTCAAGTGCA	0.458													6	87					3.59834e-05	0.000278757	1	0	T	77896342	G	T	77896342	3	4	300	1	0	0	0	0	1	0	0	0	11817	1020	36	4	848	4	PEX2	8	77896342	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	22361599	77896342	68467680	59	53800											
LRRCC1	85444	broad.mit.edu	37	chr8	86027454	86027454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagctgcagtgcctagaaGgtcttttggataatttagtt	10	14	10	7	0	1	1	0	0	1	1	1	2	1	2	1	2	3	3	1	2	4	7			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:86027454G>A	ENST00000414626.2	+	4	1493	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	LRRCC1_ENST00000360375.3_Missense_Mutation_p.G222S			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	222	LRRCT.				cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GTGCCTAGAAGGTCTTTTGGA	0.328													27	42					0	0	0	0	A	86027454	G	A	86027454	3	1	300	1	0	0	0	0	1	0	0	0	9090	1000	35	4	682	4	LRRCC1	8	86027454	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	8131112	86027454	60336568	60	53801											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885295	88885295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtactgtgttacacatttaGtggccctcaagtcccacagc	9	11	8	13	1	1	0	1	0	0	0	2	0	2	0	2	1	3	2	2	1	4	4			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:88885295G>A	ENST00000319675.3	-	1	1001	c.905C>T	c.(904-906)aCt>aTt	p.T302I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	302										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TACACATTTAGTGGCCCTCAA	0.512													21	29					0	0	0	0	A	88885295	G	A	88885295	3	1	300	1	0	0	0	0	1	0	0	0	4305	1029	36	4	286	4	DCAF4L2	8	88885295	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	2857841	88885295	57478727	61	53802											
FAM135B	51059	broad.mit.edu	37	chr8	139190886	139190886	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggacgtgagccaggcCagatccttgcttatctgctc	7	11	12	11	1	1	2	0	1	1	1	3	3	2	3	3	2	3	2	3	2	1	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:139190886C>A	ENST00000395297.1	-	10	1091	c.921G>T	c.(919-921)ctG>ctT	p.L307L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	307										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAGCCAGGCCAGATCCTTGC	0.512										HNSCC(54;0.14)			16	31					7.07596e-05	0.000544715	1	0	A	139190886	C	A	139190886	2	1	300	1	0	0	0	0	0	0	0	1	5490	581	21	4		4	FAM135B	8	139190886	Silent	SNP	C	TCGA-CV-7261-01A-11D-2012-08	50305591	139190886	7173136	62	53803											
KIFC2	90990	broad.mit.edu	37	chr8	145694974	145694974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccacctgctaccgggggCgccatcgtcgattccgccta	6	8	10	17	5	1	0	1	0	0	0	4	1	2	0	6	2	2	1	6	2	2	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:145694974C>T	ENST00000301332.2	+	12	1701	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	KIFC2_ENST00000301331.5_Missense_Mutation_p.R190C	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	442	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTACCGGGGGCGCCATCGTCG	0.612													9	38					0	0	0	0	T	145694974	C	T	145694974	3	4	300	1	0	0	0	0	1	0	0	0	8364	768	27	1	1370	1	KIFC2	8	145694974	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	6504088	145694974	669048	63	53804											
PDCL	5082	broad.mit.edu	37	chr9	125585307	125585307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaattaccttcccactgatCttctcctggaggtctttctg	6	16	6	13	0	4	1	0	1	4	0	6	2	5	2	3	2	1	0	3	2	2	5			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:125585307C>T	ENST00000259467.4	-	3	507	c.342G>A	c.(340-342)aaG>aaA	p.K114K		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	114					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TCCCACTGATCTTCTCCTGGA	0.493													5	147					0	0	0	0	T	125585307	C	T	125585307	2	4	300	1	0	0	0	0	0	0	0	1	11697	912	32	2		2	PDCL	9	125585307	Silent	SNP	C	TCGA-CV-7261-01A-11D-2012-08		125585307	15628124	64	53805											
GOLGA2	2801	broad.mit.edu	37	chr9	131022971	131022971	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgtcttgcacctgggcttGaagctgtcctgccagaccct	6	12	10	13	0	1	2	0	1	1	1	2	2	2	2	4	1	3	3	4	1	1	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:131022971G>A	ENST00000421699.2	-	17	1462	c.1450C>T	c.(1450-1452)Caa>Taa	p.Q484*		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	484						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ACCTGGGCTTGAAGCTGTCCT	0.682													23	54					0	0	0	0	A	131022971	G	A	131022971	4	1	300	1	0	0	0	0	0	1	0	0	6603	1299	45	2	1598	2	GOLGA2	9	131022971	Nonsense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	5437664	131022971	10190460	65	53806											
SET	6418	broad.mit.edu	37	chr9	131456200	131456200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgatatggatgatgaagaagGagaaggagaagaagatgatg	18	6	16	1	1	0	8	0	3	0	5	0	12	0	9	0	3	0	0	0	3	6	1			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:131456200G>C	ENST00000322030.8	+	7	1046	c.689G>C	c.(688-690)gGa>gCa	p.G230A	SET_ENST00000372692.4_Missense_Mutation_p.G243A|SET_ENST00000477806.1_3'UTR|SET_ENST00000372688.4_Missense_Mutation_p.G219A|SET_ENST00000409104.3_Missense_Mutation_p.G221A	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN	SET nuclear oncogene	243					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		GATgaagaaggagaaggagaa	0.368			T	NUP214	AML								6	39					0	0	0	0	C	131456200	G	C	131456200	3	2	300	1	0	0	0	0	1	0	0	0	14215	1174	41	2	831	2	SET	9	131456200	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	433229	131456200	9757231	66	53807											
OBP2B	29989	broad.mit.edu	37	chr9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcccggttggtatcagAattcctacctgcaggtgagg	7	10	13	11	1	1	2	1	1	0	1	3	2	3	2	4	5	2	3	4	5	3	4	rs1132279		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:136081795A>G	ENST00000372034.3	-	5	438	c.397T>C	c.(397-399)Tct>Cct	p.S133P	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.S133P(2)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612													3	46					0	0	0	0	G	136081795	A	G	136081795	3	3	300	1	0	0	0	0	1	0	0	0	10882	246	9	5	123	5	OBP2B	9	136081795	Missense_Mutation	SNP	A	TCGA-CV-7261-01A-11D-2012-08	4625595	136081795	5131636	67	53808											
SARDH	1757	broad.mit.edu	37	chr9	136573442	136573442	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctcatgttgcgcccGgccagcggctcatcgtgggg	3	10	13	15	4	3	0	2	0	1	0	6	0	4	0	3	4	2	2	3	4	0	1			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:136573442G>A	ENST00000371872.4	-	11	1694	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A	SARDH_ENST00000439388.1_Silent_p.A479A|SARDH_ENST00000422262.2_Silent_p.A311A	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	479					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGTTGCGCCCGGCCAGCGGCT	0.657													7	73					0	0	0	0	A	136573442	G	A	136573442	2	1	300	1	0	0	0	0	0	0	0	1	13927	1103	39	1		1	SARDH	9	136573442	Silent	SNP	G	TCGA-CV-7261-01A-11D-2012-08	491647	136573442	4639989	68	53809											
KIN	22944	broad.mit.edu	37	chr10	7822113	7822113	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctgatgtattcgttgtaGacaatgttgttgtggaccct	7	16	12	6	1	0	2	0	1	0	1	1	3	0	3	1	2	0	6	1	2	3	6			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:7822113G>A	ENST00000379562.3	-	4	329	c.282C>T	c.(280-282)gtC>gtT	p.V94V	KIN_ENST00000543003.1_5'UTR|KIN_ENST00000535925.1_Silent_p.V94V			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	94					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						ATTCGTTGTAGACAATGTTGT	0.408													14	88					0	0	0	0	A	7822113	G	A	7822113	2	1	300	1	0	0	0	0	0	0	0	1	8367	929	33	2		2	KIN	10	7822113	Silent	SNP	G	TCGA-CV-7261-01A-11D-2012-08		7822113	127712634	69	53810											
MYO3A	53904	broad.mit.edu	37	chr10	26462739	26462739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaatgctgtggagagtaaCaacagagtgtatcagactcc	14	8	10	9	0	1	3	1	0	0	3	2	4	2	3	2	1	3	3	2	1	4	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:26462739C>G	ENST00000265944.5	+	30	3712	c.3546C>G	c.(3544-3546)aaC>aaG	p.N1182K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1182					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGAGAGTAACAACAGAGTGT	0.388													8	42					0	0	0	0	G	26462739	C	G	26462739	3	3	300	1	0	0	0	0	1	0	0	0	10146	477	17	4	3656	4	MYO3A	10	26462739	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	18640626	26462739	109072008	70	53811											
SUPV3L1	6832	broad.mit.edu	37	chr10	70951445	70951445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgacaggtgaagagcGtgtgacagttcagccaaatg	11	9	14	7	1	1	4	1	3	0	1	1	4	1	4	1	2	2	1	1	2	2	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:70951445G>T	ENST00000359655.4	+	6	836	c.776G>T	c.(775-777)cGt>cTt	p.R259L	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	259	Helicase ATP-binding.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTGAAGAGCGTGTGACAGTT	0.368													12	49					2.31682e-05	0.000180624	1	0	T	70951445	G	T	70951445	3	4	300	1	0	0	0	0	1	0	0	0	15492	1145	40	3	798	3	SUPV3L1	10	70951445	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	44488706	70951445	64583302	71	53812											
SH2D4B	387694	broad.mit.edu	37	chr10	82329963	82329963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcagatggcgaggtctggGtctggatcatgggagaaggc	8	7	20	6	1	3	2	1	0	2	2	3	5	3	3	0	7	0	1	0	7	1	0			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:82329963G>T	ENST00000339284.2	+	2	668	c.238G>T	c.(238-240)Gtc>Ttc	p.V80F	SH2D4B_ENST00000313455.4_Missense_Mutation_p.V31F|SH2D4B_ENST00000470604.2_Missense_Mutation_p.V79F	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	79										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CGAGGTCTGGGTCTGGATCAT	0.532													31	45					2.85442e-18	2.44322e-17	1	0	T	82329963	G	T	82329963	3	4	300	1	0	0	0	0	1	0	0	0	14323	1261	44	4	285	4	SH2D4B	10	82329963	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	11378518	82329963	53204784	72	53813											
PLEKHA1	59338	broad.mit.edu	37	chr10	124189449	124189449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagccttccggtcagtgacGtgtgaggcagaagcgcacgg	8	6	16	11	5	1	3	1	2	0	1	2	4	2	3	2	3	2	2	2	3	1	1			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:124189449G>A	ENST00000368990.3	+	12	1341	c.1210G>A	c.(1210-1212)Gtg>Atg	p.V404M	PLEKHA1_ENST00000433307.1_Missense_Mutation_p.V404M|PLEKHA1_ENST00000538022.1_3'UTR|PLEKHA1_ENST00000368988.1_3'UTR|PLEKHA1_ENST00000368989.2_3'UTR	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	404					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTCAGTGACGTGTGAGGCAG	0.498													9	38					0	0	0	0	A	124189449	G	A	124189449	3	1	300	1	0	0	0	0	1	0	0	0	12127	1145	40	1	1252	1	PLEKHA1	10	124189449	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	41859486	124189449	11345298	73	53814											
MKI67	4288	broad.mit.edu	37	chr10	129903164	129903164	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgaagccagccaggtcttCtagagcctgggccttttcct	6	13	10	12	0	2	2	0	1	2	1	3	2	3	2	5	2	3	0	5	2	2	5			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:129903164C>G	ENST00000368654.3	-	13	7315	c.6940G>C	c.(6940-6942)Gaa>Caa	p.E2314Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E1954Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2314	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCAGGTCTTCTAGAGCCTGG	0.493													63	269					0	0	0	0	G	129903164	C	G	129903164	3	3	300	1	0	0	0	0	1	0	0	0	9667	922	32	2	2842	2	MKI67	10	129903164	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	5713715	129903164	5631583	74	53815											
OR52N4	390072	broad.mit.edu	37	chr11	5776833	5776833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatttatctgctcctaccacCcactatgaaccctattgtct	9	15	3	14	0	2	1	0	1	2	0	3	1	3	1	4	0	3	1	4	0	6	7			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:5776833C>A	ENST00000317254.3	+	1	911	c.863C>A	c.(862-864)cCc>cAc	p.P288H	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTCCTACCACCCACTATGAAC	0.448													41	31					6.2361e-21	5.41347e-20	1	0	A	5776833	C	A	5776833	3	1	300	1	0	0	0	0	1	0	0	0	11200	623	22	4	865	4	OR52N4	11	5776833	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08		5776833	129229683	75	53816											
HPX	3263	broad.mit.edu	37	chr11	6452915	6452915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccagggcagataaaggccGcatccacagagtccaggata	14	4	11	12	1	0	2	0	0	0	2	2	3	2	3	4	3	0	2	4	3	3	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:6452915G>A	ENST00000265983.3	-	9	1185	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	362					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GATAAAGGCCGCATCCACAGA	0.557													38	24					0	0	0	0	A	6452915	G	A	6452915	3	1	300	1	0	0	0	0	1	0	0	0	7396	1087	38	1	311	1	HPX	11	6452915	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	676082	6452915	128553601	76	53817											
SYT9	143425	broad.mit.edu	37	chr11	7324589	7324589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatggcgtccgcgtgcaGcgccaagtcacagagccaac	9	4	12	16	4	1	1	1	0	0	1	2	1	2	1	4	1	4	1	4	1	2	0			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:7324589G>A	ENST00000318881.6	+	2	702	c.465G>A	c.(463-465)caG>caA	p.Q155Q	SYT9_ENST00000396716.2_Silent_p.Q123Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	155						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCCGCGTGCAGCGCCAAGTCA	0.597													12	15					0	0	0	0	A	7324589	G	A	7324589	2	1	300	1	0	0	0	0	0	0	0	1	15572	962	34	4		4	SYT9	11	7324589	Silent	SNP	G	TCGA-CV-7261-01A-11D-2012-08	871674	7324589	127681927	77	53818											
MUC15	143662	broad.mit.edu	37	chr11	26587444	26587444	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtttttttttaaaggaatCtgaaagaaaataaccataat	17	15	6	3	0	1	2	0	1	1	1	1	3	1	3	1	2	1	1	1	2	8	7			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:26587444C>T	ENST00000436318.2	-	2	177		c.e2-1		ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000455601.2_Splice_Site|MUC15_ENST00000527569.1_Splice_Site|MUC15_ENST00000281268.8_Splice_Site|MUC15_ENST00000529533.1_Splice_Site			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated							extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTAAAGGAATCTGAAAGAAAA	0.274													9	32					0	0	0	0	T	26587444	C	T	26587444	5	4	300	1	0	0	0	0	0	0	1	0	10042	927	32	2	1054	2	MUC15	11	26587444	Splice_Site	SNP	C	TCGA-CV-7261-01A-11D-2012-08	19262855	26587444	108419072	78	53819											
KCNA4	3739	broad.mit.edu	37	chr11	30033487	30033487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagatatcaaaggggaCattgactggcctcttcaggc	12	9	12	8	0	3	3	2	2	1	1	3	4	3	4	1	4	0	0	1	4	3	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:30033487C>A	ENST00000328224.6	-	2	1972	c.739G>T	c.(739-741)Gtc>Ttc	p.V247F		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	247						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCAAAGGGGACATTGACTGGC	0.498													6	118					5.18039e-06	4.09084e-05	1	0	A	30033487	C	A	30033487	3	1	300	1	0	0	0	0	1	0	0	0	8058	478	17	4	1226	4	KCNA4	11	30033487	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	3446043	30033487	104973029	79	53820											
OR4A15	81328	broad.mit.edu	37	chr11	55135451	55135451	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccttcagaagaacacaTgaaaaataagaacaatgtga	22	6	6	7	0	1	5	1	2	0	3	1	5	1	5	1	0	3	0	1	0	8	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:55135451T>C	ENST00000314706.3	+	1	92	c.92T>C	c.(91-93)aTg>aCg	p.M31T		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAAGAACACATGAAAAATAAG	0.383													8	47					0	0	0	0	C	55135451	T	C	55135451	3	2	300	1	0	0	0	0	1	0	0	0	11111	1464	51	5	94	5	OR4A15	11	55135451	Missense_Mutation	SNP	T	TCGA-CV-7261-01A-11D-2012-08	25101964	55135451	79871065	80	53821											
OR5I1	10798	broad.mit.edu	37	chr11	55703122	55703122	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagagtcccttggtagAtcgtcactgaagtcaggtga	11	9	14	7	1	2	5	2	2	0	3	4	6	3	5	1	3	0	1	1	3	2	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:55703122A>G	ENST00000301532.3	-	1	754	c.755T>C	c.(754-756)aTc>aCc	p.I252T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCCTTGGTAGATCGTCACTGA	0.428													5	17					0	0	0	0	G	55703122	A	G	55703122	3	3	300	1	0	0	0	0	1	0	0	0	11235	333	12	5	192	5	OR5I1	11	55703122	Missense_Mutation	SNP	A	TCGA-CV-7261-01A-11D-2012-08	567671	55703122	79303394	81	53822											
LPXN	9404	broad.mit.edu	37	chr11	58322350	58322350	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggtgagccatgagctcAtccaactgagcagctgctga	10	8	12	11	0	2	4	2	4	0	0	3	4	3	4	2	1	6	4	2	1	1	0			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:58322350A>G	ENST00000528954.1	-	4	416	c.297T>C	c.(295-297)gaT>gaC	p.D99D	LPXN_ENST00000395074.2_Silent_p.D94D|LPXN_ENST00000528489.1_Silent_p.D74D	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	94					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCATGAGCTCATCCAACTGAG	0.502													11	88					0	0	0	0	G	58322350	A	G	58322350	2	3	300	1	0	0	0	0	0	0	0	1	8993	214	8	5		5	LPXN	11	58322350	Silent	SNP	A	TCGA-CV-7261-01A-11D-2012-08	2619228	58322350	76684166	82	53823											
PITPNM1	9600	broad.mit.edu	37	chr11	67265032	67265032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggactggccatgtcgCtggggatgcgctggggaggc	5	7	19	10	2	1	0	1	0	0	0	2	3	1	3	1	7	1	3	1	7	0	0			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:67265032C>T	ENST00000356404.3	-	13	2126	c.1901G>A	c.(1900-1902)aGc>aAc	p.S634N	PITPNM1_ENST00000436757.2_Missense_Mutation_p.S634N|PITPNM1_ENST00000534749.1_Missense_Mutation_p.S634N	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	634					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGCCATGTCGCTGGGGATGCG	0.672													11	118					0	0	0	0	T	67265032	C	T	67265032	3	4	300	1	0	0	0	0	1	0	0	0	12022	797	28	4	1881	4	PITPNM1	11	67265032	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	8942682	67265032	67741484	83	53824											
SERPINH1	871	broad.mit.edu	37	chr11	75280100	75280100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcacgtggagcctctcgagCgccttgaaaagctgctaacc	10	8	10	13	3	2	1	1	1	1	0	3	3	2	2	3	1	5	2	3	1	3	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:75280100C>T	ENST00000524558.1	+	4	2273	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	SERPINH1_ENST00000530284.1_Missense_Mutation_p.R280C|SERPINH1_ENST00000525876.1_Missense_Mutation_p.R63C|SERPINH1_ENST00000358171.3_Missense_Mutation_p.R280C|SERPINH1_ENST00000533603.1_Missense_Mutation_p.R280C			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	280					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GCCTCTCGAGCGCCTTGAAAA	0.562													27	33					0	0	0	0	T	75280100	C	T	75280100	3	4	300	1	0	0	0	0	1	0	0	0	14204	768	27	1	848	1	SERPINH1	11	75280100	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	8015068	75280100	59726416	84	53825											
FDXACB1	91893	broad.mit.edu	37	chr11	111746387	111746387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcaaaatgtggcacttCtgaaagacaggtccactgag	15	7	11	8	0	1	3	0	2	1	1	2	3	2	3	1	3	0	2	1	3	4	1			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:111746387C>A	ENST00000260257.4	-	5	1181	c.1134G>T	c.(1132-1134)caG>caT	p.Q378H	ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.Q229H	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	378					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TGTGGCACTTCTGAAAGACAG	0.443													13	213					0.00010058	0.000769436	1	0	A	111746387	C	A	111746387	3	1	300	1	0	0	0	0	1	0	0	0	5851	912	32	2	744	2	FDXACB1	11	111746387	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	36466287	111746387	23260129	85	53826											
AICDA	57379	broad.mit.edu	37	chr12	8757850	8757850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttgcaccccggcgcggtGcagccgccgcagcccctcgg	4	6	13	18	6	0	0	0	0	0	0	1	0	0	0	6	3	4	3	6	3	1	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr12:8757850G>A	ENST00000229335.6	-	3	491	c.388C>T	c.(388-390)Cac>Tac	p.H130Y	AICDA_ENST00000537228.1_Missense_Mutation_p.H130Y	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	130					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CCGGCGCGGTGCAGCCGCCGC	0.647													22	23					0	0	0	0	A	8757850	G	A	8757850	3	1	300	1	0	0	0	0	1	0	0	0	422	1319	46	4	220	4	AICDA	12	8757850	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08		8757850	125094045	86	53827											
ERBB3	2065	broad.mit.edu	37	chr12	56478837	56478837	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaattctctactctacCattgcccaacctccgcgtgg	9	11	7	14	2	2	1	0	1	2	0	4	2	3	1	4	1	4	0	4	1	5	4			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr12:56478837C>G	ENST00000267101.3	+	3	733	c.293C>G	c.(292-294)cCa>cGa	p.P98R	ERBB3_ENST00000411731.2_Missense_Mutation_p.P98R|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.P39R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	98					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCTACTCTACCATTGCCCAAC	0.507													6	112					0	0	0	0	G	56478837	C	G	56478837	3	3	300	1	0	0	0	0	1	0	0	0	5246	594	21	4	303	4	ERBB3	12	56478837	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	47720987	56478837	77373058	87	53828											
ANKS1B	56899	broad.mit.edu	37	chr12	100173680	100173680	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgcaatctggagagatttCtgagatggatgttctttcag	9	15	12	5	0	4	2	1	1	3	2	4	6	4	4	0	2	1	3	0	2	1	4			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr12:100173680C>T	ENST00000547776.2	-	6	815	c.816G>A	c.(814-816)caG>caA	p.Q272Q	ANKS1B_ENST00000329257.7_Silent_p.Q272Q|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	272						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGAGAGATTTCTGAGATGGAT	0.343													31	64					0	0	0	0	T	100173680	C	T	100173680	2	4	300	1	0	0	0	0	0	0	0	1	688	912	32	2		2	ANKS1B	12	100173680	Silent	SNP	C	TCGA-CV-7261-01A-11D-2012-08	43694843	100173680	33678215	88	53829											
NALCN	259232	broad.mit.edu	37	chr13	101726002	101726002	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggaacagtacggtaatagcTtttccagccgaagaaaaatt	15	9	9	8	3	0	1	0	0	0	1	1	3	1	2	2	2	4	3	2	2	7	6			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr13:101726002T>A	ENST00000251127.6	-	37	4212	c.4131A>T	c.(4129-4131)aaA>aaT	p.K1377N		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1377						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGGTAATAGCTTTTCCAGCCG	0.353													4	26					0	0	0	0	A	101726002	T	A	101726002	3	1	300	1	0	0	0	0	1	0	0	0	10218	1606	56	5	1117	5	NALCN	13	101726002	Missense_Mutation	SNP	T	TCGA-CV-7261-01A-11D-2012-08		101726002	13443876	89	53830											
OR4K1	79544	broad.mit.edu	37	chr14	20404652	20404652	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctttctgtgttctacaCtgtttgtactcccttgttga	5	21	6	9	0	3	1	0	1	3	0	4	1	4	1	1	0	2	4	1	0	2	8			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:20404652C>G	ENST00000285600.4	+	1	886	c.827C>G	c.(826-828)aCt>aGt	p.T276S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTGTTCTACACTGTTTGTACT	0.428													10	332					0	0	0	0	G	20404652	C	G	20404652	3	3	300	1	0	0	0	0	1	0	0	0	11138	565	20	4	829	4	OR4K1	14	20404652	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08		20404652	86944888	90	53831											
LRP10	26020	broad.mit.edu	37	chr14	23346447	23346447	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcacccccactgcccaTcaaggctcccctcccatctg	7	6	7	21	0	2	0	1	0	1	0	4	0	4	0	6	2	1	3	6	2	1	0			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:23346447T>C	ENST00000359591.4	+	7	2544	c.1853T>C	c.(1852-1854)aTc>aCc	p.I618T	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	618	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCACTGCCCATCAAGGCTCCC	0.657													7	156					0	0	0	0	C	23346447	T	C	23346447	3	2	300	1	0	0	0	0	1	0	0	0	9016	1435	50	5	1879	5	LRP10	14	23346447	Missense_Mutation	SNP	T	TCGA-CV-7261-01A-11D-2012-08	2941795	23346447	84003093	91	53832											
NIN	51199	broad.mit.edu	37	chr14	51237120	51237120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattacctttaaagagagggCaaggcggtcccggatatagt	12	9	13	7	2	0	1	0	0	0	1	1	4	1	2	2	4	1	1	2	4	6	5			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:51237120C>A	ENST00000245441.5	-	12	1610	c.1420G>T	c.(1420-1422)Gcc>Tcc	p.A474S	NIN_ENST00000389868.3_Missense_Mutation_p.A474S|NIN_ENST00000453196.1_Missense_Mutation_p.A474S|NIN_ENST00000382041.3_Missense_Mutation_p.A474S|NIN_ENST00000382043.4_Missense_Mutation_p.A474S|NIN_ENST00000324330.9_Missense_Mutation_p.A474S|NIN_ENST00000530997.2_Missense_Mutation_p.A474S	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	474					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AAAGAGAGGGCAAGGCGGTCC	0.483			T	PDGFRB	MPD								5	27					0.000602214	0.00455006	1	0	A	51237120	C	A	51237120	3	1	300	1	0	0	0	0	1	0	0	0	10487	710	25	4	5209	4	NIN	14	51237120	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	27890673	51237120	56112420	92	53833											
FUT8	2530	broad.mit.edu	37	chr14	66136078	66136078	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattgcatatggcacccagCgaacactcatcttggaatct	11	11	8	11	1	3	1	1	1	2	0	3	3	3	2	1	2	3	2	1	2	3	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:66136078C>T	ENST00000360689.5	+	7	2442	c.715C>T	c.(715-717)Cga>Tga	p.R239*	FUT8_ENST00000394585.1_Nonsense_Mutation_p.R239*|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000557164.1_Nonsense_Mutation_p.R76*|FUT8_ENST00000394586.2_Nonsense_Mutation_p.R239*|FUT8_ENST00000358307.2_Nonsense_Mutation_p.R110*	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	239					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGGCACCCAGCGAACACTCAT	0.473													21	68					0	0	0	0	T	66136078	C	T	66136078	4	4	300	1	0	0	0	0	0	1	0	0	6158	760	27	1	832	1	FUT8	14	66136078	Nonsense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	14898958	66136078	41213462	93	53834											
ACTC1	70	broad.mit.edu	37	chr15	35086901	35086901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgccgcgggcggcccaCgatggacgggaagacagcgc	7	3	18	13	6	0	1	0	0	0	1	0	4	0	3	2	5	2	0	2	5	1	0			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:35086901C>T	ENST00000290378.4	-	2	764	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	37					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGGCGGCCCACGATGGACGGG	0.687													9	25					0	0	0	0	T	35086901	C	T	35086901	3	4	300	1	0	0	0	0	1	0	0	0	195	536	19	1	1048	1	ACTC1	15	35086901	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08		35086901	67444491	94	53835											
WDR72	256764	broad.mit.edu	37	chr15	53907901	53907901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgagaaattatcttcattCaaagaaattcccaaagaaat	19	11	5	6	0	3	3	2	1	1	3	4	4	4	3	1	0	0	0	1	0	6	4			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:53907901C>G	ENST00000396328.1	-	15	2741	c.2502G>C	c.(2500-2502)ttG>ttC	p.L834F	WDR72_ENST00000559418.1_Missense_Mutation_p.L844F|WDR72_ENST00000360509.5_Missense_Mutation_p.L834F|WDR72_ENST00000557913.1_Missense_Mutation_p.L831F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	834										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TATCTTCATTCAAAGAAATTC	0.343													9	75					0	0	0	0	G	53907901	C	G	53907901	3	3	300	1	0	0	0	0	1	0	0	0	17418	825	29	2	830	2	WDR72	15	53907901	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	18821000	53907901	48623491	95	53836											
ADAM10	102	broad.mit.edu	37	chr15	58933155	58933155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttctcatcagcagttgtaTtgatctaaaatccaaaacaa	15	12	4	10	0	3	1	2	1	2	0	5	1	4	1	2	0	2	3	2	0	6	5			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:58933155T>C	ENST00000260408.3	-	8	1276	c.833A>G	c.(832-834)aAt>aGt	p.N278S	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	278	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AGCAGTTGTATTGATCTAAAA	0.373													3	38					0	0	0	0	C	58933155	T	C	58933155	3	2	300	1	0	0	0	0	1	0	0	0	234	1493	52	5	1449	5	ADAM10	15	58933155	Missense_Mutation	SNP	T	TCGA-CV-7261-01A-11D-2012-08	5025254	58933155	43598237	96	53837											
ADAM10	102	broad.mit.edu	37	chr15	58971446	58971446	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatccttcaaatcttccatCaataacagacccatggctaa	15	10	4	12	0	3	1	2	0	1	1	5	2	5	1	3	1	1	1	3	1	5	4			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:58971446C>G	ENST00000260408.3	-	4	804	c.361G>C	c.(361-363)Gat>Cat	p.D121H	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	121					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AATCTTCCATCAATAACAGAC	0.358													4	42					0	0	0	0	G	58971446	C	G	58971446	3	3	300	1	0	0	0	0	1	0	0	0	234	826	29	2	1937	2	ADAM10	15	58971446	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	38291	58971446	43559946	97	53838											
FOXB1	27023	broad.mit.edu	37	chr15	60297874	60297874	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccatggcgagtggcgacTacagcgcctacggcgtgccg	6	7	14	14	6	1	0	0	0	1	0	2	2	1	0	3	3	4	0	3	3	2	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:60297874T>C	ENST00000396057.4	+	2	1191	c.712T>C	c.(712-714)Tac>Cac	p.Y238H	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	238					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						GAGTGGCGACTACAGCGCCTA	0.706													9	11					0	0	0	0	C	60297874	T	C	60297874	3	2	300	1	0	0	0	0	1	0	0	0	6037	1522	53	5	714	5	FOXB1	15	60297874	Missense_Mutation	SNP	T	TCGA-CV-7261-01A-11D-2012-08	1326428	60297874	42233518	98	53839											
IQCH	64799	broad.mit.edu	37	chr15	67687836	67687836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaccaaatctggaggcaaaCgtgtctttgacagtgccaat	12	10	10	9	1	2	1	0	1	2	0	2	2	2	2	2	2	3	2	2	2	4	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:67687836C>T	ENST00000335894.4	+	13	1906	c.1840C>T	c.(1840-1842)Cgt>Tgt	p.R614C	IQCH_ENST00000360277.4_Intron|IQCH_ENST00000358767.3_Intron|IQCH_ENST00000546225.1_Intron	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	614										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGGAGGCAAACGTGTCTTTGA	0.448													9	68					0	0	0	0	T	67687836	C	T	67687836	3	4	300	1	0	0	0	0	1	0	0	0	7864	536	19	1	2018	1	IQCH	15	67687836	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	7389962	67687836	34843556	99	53840											
RGS11	8786	broad.mit.edu	37	chr16	319529	319529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctccagcgggatcccaGcctctgccaggagggccttg	6	8	12	15	1	3	0	1	0	2	0	5	2	4	2	5	3	3	0	5	3	0	1			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:319529G>A	ENST00000397770.3	-	16	1279	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Missense_Mutation_p.A410V|ITFG3_ENST00000442458.2_3'UTR|ITFG3_ENST00000600536.1_3'UTR|RGS11_ENST00000316163.5_Missense_Mutation_p.A400V			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	421					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGGGATCCCAGCCTCTGCCAG	0.652													16	15					0	0	0	0	A	319529	G	A	319529	3	1	300	1	0	0	0	0	1	0	0	0	13377	971	34	4	149	4	RGS11	16	319529	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08		319529	90035224	100	53841											
IFT140	9742	broad.mit.edu	37	chr16	1561083	1561083	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacggcgtccacggcctgCgggctcacgtagtaggacat	7	7	14	13	5	1	0	1	0	0	0	2	1	2	1	2	4	2	4	2	4	2	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:1561083C>T	ENST00000426508.2	-	31	4614	c.4251G>A	c.(4249-4251)ccG>ccA	p.P1417P	IFT140_ENST00000361339.5_Silent_p.P611P	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1417										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCACGGCCTGCGGGCTCACGT	0.662													6	8					0	0	0	0	T	1561083	C	T	1561083	2	4	300	1	0	0	0	0	0	0	0	1	7609	755	27	1		1	IFT140	16	1561083	Silent	SNP	C	TCGA-CV-7261-01A-11D-2012-08	1241554	1561083	88793670	101	53842											
CIITA	4261	broad.mit.edu	37	chr16	10995979	10995979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctgcctgccactgcctgCgctgttcaaccaggagccag	6	7	11	17	1	1	0	1	0	0	0	1	1	1	1	6	1	6	2	6	1	1	1	rs149076617		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:10995979C>T	ENST00000324288.8	+	7	699	c.566C>T	c.(565-567)gCg>gTg	p.A189V	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	189					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCACTGCCTGCGCTGTTCAAC	0.622			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								8	78					0	0	0	0	T	10995979	C	T	10995979	3	4	300	1	0	0	0	0	1	0	0	0	3457	768	27	1	592	1	CIITA	16	10995979	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	9434896	10995979	79358774	102	53843											
KIAA0430	9665	broad.mit.edu	37	chr16	15715663	15715663	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttttgctgccaattttgtAtctgtggaggctattcactg	6	18	9	8	0	2	0	1	0	1	0	2	1	2	1	1	2	2	3	1	2	3	7			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:15715663A>G	ENST00000396368.3	-	12	2772	c.2566T>C	c.(2566-2568)Tac>Cac	p.Y856H	KIAA0430_ENST00000551742.1_Missense_Mutation_p.Y856H|KIAA0430_ENST00000548025.1_Missense_Mutation_p.Y853H|KIAA0430_ENST00000602337.1_Missense_Mutation_p.Y853H|KIAA0430_ENST00000540441.2_Missense_Mutation_p.Y691H|KIAA0430_ENST00000344181.3_Missense_Mutation_p.Y525H	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	855	RRM.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCAATTTTGTATCTGTGGAGG	0.458													25	40					0	0	0	0	G	15715663	A	G	15715663	3	3	300	1	0	0	0	0	1	0	0	0	8228	449	16	5	2726	5	KIAA0430	16	15715663	Missense_Mutation	SNP	A	TCGA-CV-7261-01A-11D-2012-08	4719684	15715663	74639090	103	53844											
CDH11	1009	broad.mit.edu	37	chr16	65026844	65026844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcttccaccgaaaaatagGgttgtccttcgaggatactg	10	11	11	9	2	0	0	0	0	0	0	3	3	2	1	3	2	2	2	3	2	4	5			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:65026844G>A	ENST00000394156.3	-	5	1070	c.617C>T	c.(616-618)cCc>cTc	p.P206L	CDH11_ENST00000268603.4_Missense_Mutation_p.P206L|CDH11_ENST00000566827.1_Missense_Mutation_p.P80L			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	206	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGAAAAATAGGGTTGTCCTTC	0.443			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			5	52					0	0	0	0	A	65026844	G	A	65026844	3	1	300	1	0	0	0	0	1	0	0	0	3126	1232	43	4	1809	4	CDH11	16	65026844	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	49311181	65026844	25327909	104	53845											
SDR42E1	93517	broad.mit.edu	37	chr16	82032990	82032990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctggaagttgtagagtCgacccaaaatgaagtgaacc	14	7	13	7	1	0	3	0	2	0	1	1	5	0	4	2	2	1	3	2	2	6	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:82032990C>A	ENST00000328945.5	-	3	1035	c.908G>T	c.(907-909)cGa>cTa	p.R303L		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	303					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GTTGTAGAGTCGACCCAAAAT	0.463													23	21					4.4004e-07	3.54348e-06	1	0	A	82032990	C	A	82032990	3	1	300	1	0	0	0	0	1	0	0	0	14060	884	31	3	277	3	SDR42E1	16	82032990	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	17006146	82032990	8321763	105	53846											
CAMTA2	23125	broad.mit.edu	37	chr17	4883671	4883671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcttgaagaaccccCtcgagaagtgggagggctag	9	7	13	12	1	1	3	0	1	1	2	3	5	2	4	4	2	1	1	4	2	4	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:4883671C>T	ENST00000361571.5	-	8	1354	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	CAMTA2_ENST00000572543.1_Missense_Mutation_p.G321R|CAMTA2_ENST00000358183.4_Missense_Mutation_p.G316R|CAMTA2_ENST00000381311.5_Missense_Mutation_p.G318R|CAMTA2_ENST00000348066.3_Missense_Mutation_p.G316R|CAMTA2_ENST00000414043.3_Missense_Mutation_p.G339R	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	316					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAAGAACCCCCTCGAGAAGTG	0.592											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	15					0	0	0	0	T	4883671	C	T	4883671	3	4	300	1	0	0	0	0	1	0	0	0	2639	681	24	4	2772	4	CAMTA2	17	4883671	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08		4883671	76311539	106	53847											
JUP	3728	broad.mit.edu	37	chr17	39927914	39927914	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaccttggctggggggcaCcccctgggtgtaagtggtgg	4	9	18	10	0	0	1	0	1	0	0	0	1	0	1	3	7	0	3	3	7	1	2			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:39927914C>G	ENST00000393931.3	-	2	311	c.193G>C	c.(193-195)Gtg>Ctg	p.V65L	JUP_ENST00000393930.1_Missense_Mutation_p.V65L|JUP_ENST00000310706.5_Missense_Mutation_p.V65L|JUP_ENST00000540235.1_Missense_Mutation_p.V65L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	65					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTGGGGGGCACCCCCTGGGTG	0.612													17	37					0	0	0	0	G	39927914	C	G	39927914	3	3	300	1	0	0	0	0	1	0	0	0	8025	507	18	4	2096	4	JUP	17	39927914	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	35044243	39927914	41267296	107	53848											
P4HB	5034	broad.mit.edu	37	chr17	79804356	79804356	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctgtgatcctctctgcCgtcagctcctccgattcggg	5	12	9	15	3	3	1	1	1	2	0	8	2	6	1	4	1	3	1	4	1	1	1			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:79804356C>T	ENST00000331483.4	-	7	1227	c.1005G>A	c.(1003-1005)acG>acA	p.T335T	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Silent_p.T291T	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	335					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCCTCTCTGCCGTCAGCTCCT	0.632													36	98					0	0	0	0	T	79804356	C	T	79804356	2	4	300	1	0	0	0	0	0	0	0	1	11430	639	23	1		1	P4HB	17	79804356	Silent	SNP	C	TCGA-CV-7261-01A-11D-2012-08	39876442	79804356	1390854	108	53849											
SLC14A2	8170	broad.mit.edu	37	chr18	43249308	43249308	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggtaccatcttcagcAagtgggacctcccagtcttc	7	10	9	15	0	3	0	1	0	2	0	5	1	4	1	4	2	2	2	4	2	2	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr18:43249308A>C	ENST00000255226.6	+	16	2890	c.2074A>C	c.(2074-2076)Aag>Cag	p.K692Q	SLC14A2_ENST00000589658.1_Missense_Mutation_p.K169Q|SLC14A2_ENST00000586448.1_Missense_Mutation_p.K692Q	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	692						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCTTCAGCAAGTGGGACCT	0.552													8	132					0	0	0	0	C	43249308	A	C	43249308	3	2	300	1	0	0	0	0	1	0	0	0	14485	131	5	5	2132	5	SLC14A2	18	43249308	Missense_Mutation	SNP	A	TCGA-CV-7261-01A-11D-2012-08		43249308	34827940	109	53850											
GPX4	2879	broad.mit.edu	37	chr19	1105714	1105714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgggctacaacgtcaaattcGatatgttcagcaagatctgc	12	10	9	10	3	3	1	2	0	1	1	4	2	3	1	0	1	4	3	0	1	5	4			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:1105714G>C	ENST00000354171.8	+	4	489	c.382G>C	c.(382-384)Gat>Cat	p.D128H	GPX4_ENST00000589115.1_Missense_Mutation_p.D128H	NM_001039847.1|NM_002085.3	NP_001034936.1|NP_002076.2	P36969	GPX4_HUMAN	glutathione peroxidase 4	128					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|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)	Glutathione(DB00143)	CGTCAAATTCGATATGTTCAG	0.587													5	13					0	0	0	0	C	1105714	G	C	1105714	3	2	300	1	0	0	0	0	1	0	0	0	6792	1058	37	3	595	3	GPX4	19	1105714	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08		1105714	58023269	110	53851											
MUC16	94025	broad.mit.edu	37	chr19	9045870	9045870	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacagatggtgaggtttCtgtgttccaggaggtcacag	9	12	14	6	0	2	2	1	1	1	1	3	3	3	3	1	4	1	3	1	4	1	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:9045870C>A	ENST00000397910.4	-	5	35964	c.35761G>T	c.(35761-35763)Gaa>Taa	p.E11921*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11923	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						GGTGAGGTTTCTGTGTTCCAG	0.498													50	92					1.07234e-20	9.2433e-20	1	0	A	9045870	C	A	9045870	4	1	300	1	0	0	0	0	0	1	0	0	10043	922	32	2	8082	2	MUC16	19	9045870	Nonsense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	7940156	9045870	50083113	111	53852											
ZNF20	7568	broad.mit.edu	37	chr19	12244792	12244792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactttcacagagtttctctCtcataagacttcagtgaaaa	13	14	5	9	0	4	3	3	1	2	2	6	3	4	3	0	0	1	1	0	0	4	5			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:12244792C>T	ENST00000334213.5	-	4	433	c.209G>A	c.(208-210)aGa>aAa	p.R70K	ZNF20_ENST00000485451.1_5'UTR|ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GAGTTTCTCTCTCATAAGACT	0.413													19	54					0	0	0	0	T	12244792	C	T	12244792	3	4	300	1	0	0	0	0	1	0	0	0	17856	913	32	2	1393	2	ZNF20	19	12244792	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	3198922	12244792	46884191	112	53853											
CACNA1A	773	broad.mit.edu	37	chr19	13345741	13345741	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccttctcaccggaagAgaagcatgagggcctggaag	10	6	14	11	1	1	2	1	1	1	1	3	5	2	4	4	4	1	1	4	4	3	1			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:13345741A>G	ENST00000360228.5	-	34	5242	c.5243T>C	c.(5242-5244)cTc>cCc	p.L1748P	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1749P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1749					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCACCGGAAGAGAAGCATGAG	0.522											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	80					0	0	0	0	G	13345741	A	G	13345741	3	3	300	1	0	0	0	0	1	0	0	0	2563	304	11	5	2434	5	CACNA1A	19	13345741	Missense_Mutation	SNP	A	TCGA-CV-7261-01A-11D-2012-08	1100949	13345741	45783242	113	53854											
CACNA1A	773	broad.mit.edu	37	chr19	13414674	13414674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcccgtcgtacatgacctCgttccagtcttcgcccgtca	6	11	8	16	5	2	1	1	1	1	0	7	2	4	1	4	0	1	2	4	0	1	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:13414674C>T	ENST00000360228.5	-	16	2010	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E672K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	672					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TACATGACCTCGTTCCAGTCT	0.577													14	143					0	0	0	0	T	13414674	C	T	13414674	3	4	300	1	0	0	0	0	1	0	0	0	2563	893	31	1	5748	1	CACNA1A	19	13414674	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	68933	13414674	45714309	114	53855											
BRD4	23476	broad.mit.edu	37	chr19	15366308	15366308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtccaagctgagctgcCgcttctcctcataggacata	9	11	9	12	1	2	2	1	2	1	0	4	3	3	3	3	1	3	3	3	1	3	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:15366308C>T	ENST00000263377.2	-	10	2068	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q	BRD4_ENST00000360016.5_Missense_Mutation_p.R616Q|BRD4_ENST00000371835.4_Missense_Mutation_p.R616Q	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	616					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTGAGCTGCCGCTTCTCCTC	0.597			T	C15orf55	lethal midline carcinoma of young people								26	95					0	0	0	0	T	15366308	C	T	15366308	3	4	300	1	0	0	0	0	1	0	0	0	1512	652	23	1	2300	1	BRD4	19	15366308	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	1951634	15366308	43762675	115	53856											
NWD1	284434	broad.mit.edu	37	chr19	16860942	16860942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaggtgaagcccctttccGgaaaccaaggccagcagatg	11	5	14	11	1	0	2	0	1	0	1	1	4	1	4	5	4	3	1	5	4	3	1			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:16860942G>A	ENST00000524140.2	+	6	1907	c.1489G>A	c.(1489-1491)Gga>Aga	p.G497R	NWD1_ENST00000339803.6_Missense_Mutation_p.G362R|NWD1_ENST00000552788.1_Missense_Mutation_p.G497R|NWD1_ENST00000549814.1_Missense_Mutation_p.G497R|NWD1_ENST00000523826.1_Missense_Mutation_p.G291R|NWD1_ENST00000379808.3_Missense_Mutation_p.G497R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	497	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCCTTTCCGGAAACCAAGG	0.632													6	93					0	0	0	0	A	16860942	G	A	16860942	3	1	300	1	0	0	0	0	1	0	0	0	10852	1117	39	1	1090	1	NWD1	19	16860942	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	1494634	16860942	42268041	116	53857											
GMIP	51291	broad.mit.edu	37	chr19	19749068	19749068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcaggggacccctgggagCgtgcccgcaggtcctcgctg	4	6	15	16	3	1	0	1	0	0	0	3	2	2	2	5	4	2	2	5	4	0	0			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:19749068C>T	ENST00000203556.4	-	9	826	c.689G>A	c.(688-690)cGc>cAc	p.R230H	GMIP_ENST00000587238.1_Missense_Mutation_p.R230H|GMIP_ENST00000445806.2_Missense_Mutation_p.R230H	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	230					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCCTGGGAGCGTGCCCGCAG	0.716													13	16					0	0	0	0	T	19749068	C	T	19749068	3	4	300	1	0	0	0	0	1	0	0	0	6542	768	27	1	2275	1	GMIP	19	19749068	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	2888126	19749068	39379915	117	53858											
ZNF14	7561	broad.mit.edu	37	chr19	19822424	19822424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttacattgatacggtttctCtccagtgtgagtcctttcat	7	18	7	9	1	2	2	1	2	1	0	5	2	4	2	2	1	2	1	2	1	2	6			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:19822424C>T	ENST00000344099.3	-	4	1804	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TACGGTTTCTCTCCAGTGTGA	0.408													5	105					0	0	0	0	T	19822424	C	T	19822424	3	4	300	1	0	0	0	0	1	0	0	0	17823	922	32	2	266	2	ZNF14	19	19822424	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	73356	19822424	39306559	118	53859											
RYR1	6261	broad.mit.edu	37	chr19	39019040	39019040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctgtttccgtatgacgcCcctgtacaacctgcccacgt	6	10	9	16	3	0	1	0	1	0	0	1	1	1	1	6	1	3	3	6	1	3	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:39019040C>T	ENST00000355481.4	+	73	11035	c.10904C>T	c.(10903-10905)cCc>cTc	p.P3635L	AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.P3640L|RYR1_ENST00000359596.3_Missense_Mutation_p.P3640L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3640					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGTATGACGCCCCTGTACAAC	0.612													7	60					0	0	0	0	T	39019040	C	T	39019040	3	4	300	1	0	0	0	0	1	0	0	0	13853	623	22	4	11213	4	RYR1	19	39019040	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	19196616	39019040	20109943	119	53860											
ADCK4	79934	broad.mit.edu	37	chr19	41209448	41209448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggtgggcgcctcacccGcgggcagggccgcgctcatc	4	5	17	15	5	2	0	2	0	0	0	3	0	2	0	3	4	0	2	3	4	0	0			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:41209448G>A	ENST00000324464.3	-	9	1098	c.797C>T	c.(796-798)gCg>gTg	p.A266V	ADCK4_ENST00000243583.6_Missense_Mutation_p.A225V|ADCK4_ENST00000450541.1_Missense_Mutation_p.A225V	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	266	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CGCCTCACCCGCGGGCAGGGC	0.647													11	5					0	0	0	0	A	41209448	G	A	41209448	3	1	300	1	0	0	0	0	1	0	0	0	290	1087	38	1	865	1	ADCK4	19	41209448	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	2190408	41209448	17919535	120	53861											
ZNF473	25888	broad.mit.edu	37	chr19	50549349	50549349	+	Missense_Mutation	SNP	T	T	A																															attttttgtgagtgggaagaTcttggatcagaacccagaac																										TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:50549349T>A	ENST00000595661.1	+	6	2144	c.1649T>A	c.(1648-1650)aTc>aAc	p.I550N	ZNF473_ENST00000445728.3_Missense_Mutation_p.I538N|ZNF473_ENST00000391821.2_Missense_Mutation_p.I550N|ZNF473_ENST00000270617.3_Missense_Mutation_p.I550N|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	550	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGTGGGAAGATCTTGGATCAG	0.453													5	32					0	0	0	0	A	50549349	T	A	50549349	3	1	300	1	0	0	0	0	1	0	0	0	18026	1435	50	5	1663	5	ZNF473	19	50549349	Missense_Mutation	SNP	T	TCGA-CV-7261-01A-11D-2012-08	9339901	50549349	8579634	121	53862	429	2									
ZNF473	25888	broad.mit.edu	37	chr19	50549350	50549350	+	Missense_Mutation	SNP	C	C	G																															ttttttgtgagtgggaagatCttggatcagaacccagaaca																										TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:50549350C>G	ENST00000595661.1	+	6	2145	c.1650C>G	c.(1648-1650)atC>atG	p.I550M	ZNF473_ENST00000445728.3_Missense_Mutation_p.I538M|ZNF473_ENST00000391821.2_Missense_Mutation_p.I550M|ZNF473_ENST00000270617.3_Missense_Mutation_p.I550M|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	550	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTGGGAAGATCTTGGATCAGA	0.458													5	31					0	0	0	0	G	50549350	C	G	50549350	3	3	300	1	0	0	0	0	1	0	0	0	18026	903	32	2	1664	2	ZNF473	19	50549350	Missense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08	1	50549350	8579633	122	53863	429	2									
PAK7	57144	broad.mit.edu	37	chr20	9546783	9546783	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggagccccagctgggCggcgggtaggtgctggatga	7	5	21	8	2	0	1	0	1	0	0	0	5	0	4	2	7	3	3	2	7	1	1	rs140739060	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr20:9546783C>T	ENST00000378429.3	-	6	1785	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	PAK7_ENST00000378423.1_Silent_p.P413P|PAK7_ENST00000353224.5_Silent_p.P413P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	413	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCCAGCTGGGCGGCGGGTAGG	0.657													20	48					0	0	0	0	T	9546783	C	T	9546783	2	4	300	1	0	0	0	0	0	0	0	1	11476	755	27	1		1	PAK7	20	9546783	Silent	SNP	C	TCGA-CV-7261-01A-11D-2012-08		9546783	53478737	123	53864											
MACROD2	140733	broad.mit.edu	37	chr20	15843468	15843468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgaatgagtttttctccGtaggtgagtaaagcaacttc	13	13	9	6	1	1	3	0	3	1	0	3	3	1	3	1	1	2	4	1	1	6	5	rs143525826	by1000genomes	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr20:15843468G>A	ENST00000217246.4	+	9	1119	c.724G>A	c.(724-726)Gta>Ata	p.V242I	MACROD2_ENST00000378058.3_Missense_Mutation_p.V7I|MACROD2_ENST00000402914.1_Missense_Mutation_p.V7I|MACROD2_ENST00000310348.4_Missense_Mutation_p.V242I	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	242										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GTTTTTCTCCGTAGGTGAGTA	0.363													8	33					0	0	0	0	A	15843468	G	A	15843468	3	1	300	1	0	0	0	0	1	0	0	0	9211	1145	40	1	758	1	MACROD2	20	15843468	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	6296685	15843468	47182052	124	53865											
TPTE	7179	broad.mit.edu	37	chr21	10952943	10952943	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgatacaattgaatgcAcaattttcttaatcttgctg	13	15	7	6	0	2	2	0	2	2	0	2	3	2	3	0	1	3	2	0	1	5	6			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr21:10952943A>C	ENST00000298232.7	-	8	567	c.200T>G	c.(199-201)gTg>gGg	p.V67G	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.V85G|TPTE_ENST00000342420.5_Missense_Mutation_p.V47G	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	85					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATTGAATGCACAATTTTCTT	0.333													10	39					0	0	0	0	C	10952943	A	C	10952943	3	2	300	1	0	0	0	0	1	0	0	0	16525	159	6	5	1465	5	TPTE	21	10952943	Missense_Mutation	SNP	A	TCGA-CV-7261-01A-11D-2012-08		10952943	37176952	125	53866											
MAPK1	5594	broad.mit.edu	37	chr22	22127164	22127164	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacatgagctcttacctCgtcactcgggtcgtaatact	10	11	9	11	3	2	1	1	1	1	0	5	2	2	2	1	2	4	2	1	2	4	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr22:22127164C>A	ENST00000215832.6	-	7	1152	c.964G>T	c.(964-966)Gag>Tag	p.E322*	MAPK1_ENST00000398822.3_Nonsense_Mutation_p.E322*|MAPK1_ENST00000544786.1_Nonsense_Mutation_p.E278*	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478													33	55					1.22384e-17	1.03309e-16	1	0	A	22127164	C	A	22127164	4	1	300	1	0	0	0	0	0	1	0	0	9340	893	31	3	126	3	MAPK1	22	22127164	Nonsense_Mutation	SNP	C	TCGA-CV-7261-01A-11D-2012-08		22127164	29177402	126	53867											
DLG3	1741	broad.mit.edu	37	chrX	69673592	69673592	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccttcatcctggcaggAggcccagctgacctgagtgg	6	9	13	13	0	2	2	1	2	1	0	4	3	3	3	4	4	1	2	4	4	0	1			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:69673592A>G	ENST00000194900.4	+	9	1646	c.1305A>G	c.(1303-1305)ggA>ggG	p.G435G	DLG3-AS1_ENST00000431103.1_RNA|DLG3_ENST00000374355.3_Silent_p.G80G|DLG3_ENST00000374360.3_Silent_p.G417G|DLG3-AS1_ENST00000424211.1_RNA			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	417	PDZ 3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TCCTGGCAGGAGGCCCAGCTG	0.567													2	6					0	0	0	0	G	69673592	A	G	69673592	2	3	300	1	0	0	0	0	0	0	0	1	4593	291	11	5		5	DLG3	23	69673592	Silent	SNP	A	TCGA-CV-7261-01A-11D-2012-08		69673592	85596968	127	53868											
BTK	695	broad.mit.edu	37	chrX	100617676	100617676	+	Splice_Site	SNP	T	T	A																															agatcactgttgtaccggatTactgtagcaggaaagaagag																										TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:100617676T>A	ENST00000308731.7	-	6	556	c.391_splice	c.e6-1	p.V131_splice	BTK_ENST00000372880.1_Splice_Site_p.V131_splice	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	131	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTACCGGATTACTGTAGCAG	0.458									Agammaglobulinemia, X-linked				6	95					0	0	0	0	A	100617676	T	A	100617676	5	1	300	1	0	0	0	0	0	0	1	0	1566	1768	61	5	1642	5	BTK	23	100617676	Splice_Site	SNP	T	TCGA-CV-7261-01A-11D-2012-08	30944084	100617676	54652884	128	53869	430	2									
BTK	695	broad.mit.edu	37	chrX	100617678	100617678	+	Splice_Site	SNP	C	C	A																															atcactgttgtaccggattaCtgtagcaggaaagaagagag																										TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:100617678C>A	ENST00000308731.7	-	6	555		c.e6-1		BTK_ENST00000372880.1_Splice_Site	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase						calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TACCGGATTACTGTAGCAGGA	0.463									Agammaglobulinemia, X-linked				6	92					0.00116845	0.00877409	1	0	A	100617678	C	A	100617678	5	1	300	1	0	0	0	0	0	0	1	0	1566	579	20	4	1644	4	BTK	23	100617678	Splice_Site	SNP	C	TCGA-CV-7261-01A-11D-2012-08	2	100617678	54652882	129	53870	430	2									
TCEAL3	85012	broad.mit.edu	37	chrX	102864401	102864403	+	In_Frame_Del	DEL	GAG	GAG	-																															aggaaaggcatctgagcagtGaggagatgatgagagaatgt																										TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:102864401_102864403delGAG	ENST00000372628.1	+	3	767_769	c.409_411delGAG	c.(409-411)del	p.E138del	TCEAL3_ENST00000243286.3_In_Frame_Del_p.E138del|TCEAL3_ENST00000372627.5_In_Frame_Del_p.E138del|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						TCTGAGCAGTGAGGAGATGATGA	0.478													62	57	---	---	---	---					-	102864403	GAG	-	102864401	7	5	300	1	0	1	0	1	0	0	0	0	15766	1291	45	0	411	0	TCEAL3	23	102864401	In_Frame_Del	DEL	GAG	TCGA-CV-7261-01A-11D-2012-08	2246723	102864401	52406159	130	53871											
AGTR2	186	broad.mit.edu	37	chrX	115304382	115304382	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcctggatgctctggcctgGatgggtgtcattaatagctg	6	14	13	8	0	2	0	1	0	1	0	3	2	3	2	2	4	2	2	2	4	2	3			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:115304382G>C	ENST00000371906.4	+	3	1039	c.849G>C	c.(847-849)tgG>tgC	p.W283C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	283					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CTCTGGCCTGGATGGGTGTCA	0.507													11	84					0	0	0	0	C	115304382	G	C	115304382	3	2	300	1	0	0	0	0	1	0	0	0	402	1183	41	2	851	2	AGTR2	23	115304382	Missense_Mutation	SNP	G	TCGA-CV-7261-01A-11D-2012-08	12439981	115304382	39966178	131	53872											
MTHFR	4524	broad.mit.edu	37	chr1	11854027	11854027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcggaggacggcttcccGttgatgttgggctgtgagtt	4	12	18	7	3	0	2	0	2	0	0	2	4	1	4	1	5	0	5	1	5	0	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:11854027G>A	ENST00000376592.1	-	8	1595	c.1467C>T	c.(1465-1467)aaC>aaT	p.N489N	MTHFR_ENST00000376583.3_Silent_p.N530N|MTHFR_ENST00000376585.1_Silent_p.N530N|MTHFR_ENST00000376590.3_Silent_p.N489N			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	489					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	ACGGCTTCCCGTTGATGTTGG	0.657													35	73					0	0	0	0	A	11854027	G	A	11854027	2	1	301	1	0	0	0	0	0	0	0	1	10001	1136	40	1		1	MTHFR	1	11854027	Silent	SNP	G	TCGA-CV-7263-01A-11D-2012-08		11854027	237396594	1	53873											
GPBP1L1	60313	broad.mit.edu	37	chr1	46096158	46096158	+	Missense_Mutation	SNP	G	G	A																															tgtcctcctcacttacctgtGctctgcttctagagagtgtg																										TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:46096158G>A	ENST00000355105.3	-	11	2525	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.H389Y|GPBP1L1_ENST00000479235.1_5'UTR	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ACTTACCTGTGCTCTGCTTCT	0.488													18	69					0	0	0	0	A	46096158	G	A	46096158	3	1	301	1	0	0	0	0	1	0	0	0	6645	1319	46	4	271	4	GPBP1L1	1	46096158	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	34242131	46096158	203154463	2	53874	431	2									
GPBP1L1	60313	broad.mit.edu	37	chr1	46096159	46096159	+	Missense_Mutation	SNP	C	C	A																															gtcctcctcacttacctgtgCtctgcttctagagagtgtga																										TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:46096159C>A	ENST00000355105.3	-	11	2524	c.1164G>T	c.(1162-1164)gaG>gaT	p.E388D	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.E388D|GPBP1L1_ENST00000479235.1_5'UTR	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CTTACCTGTGCTCTGCTTCTA	0.488													20	69					7.41877e-09	3.03495e-08	1	0	A	46096159	C	A	46096159	3	1	301	1	0	0	0	0	1	0	0	0	6645	796	28	4	272	4	GPBP1L1	1	46096159	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	1	46096159	203154462	3	53875	431	2									
LRRC41	10489	broad.mit.edu	37	chr1	46751227	46751227	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaaagctccacaagccacTtccccaatctccatctcttc	10	10	2	19	0	2	0	0	0	2	0	8	0	5	0	6	0	2	1	6	0	3	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:46751227T>C	ENST00000343304.6	-	4	1587	c.1302A>G	c.(1300-1302)gaA>gaG	p.E434E	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	434										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CACAAGCCACTTCCCCAATCT	0.547													34	57					0	0	0	0	C	46751227	T	C	46751227	2	2	301	1	0	0	0	0	0	0	0	1	9063	1606	56	5		5	LRRC41	1	46751227	Silent	SNP	T	TCGA-CV-7263-01A-11D-2012-08	655068	46751227	202499394	4	53876											
CYP4B1	1580	broad.mit.edu	37	chr1	47279983	47279983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctggacattctcctgggtgCccgggtgagtacattgttgc	5	12	13	11	1	1	1	0	1	1	0	2	2	1	2	3	3	3	2	3	3	1	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:47279983C>T	ENST00000271153.4	+	7	911	c.875C>T	c.(874-876)gCc>gTc	p.A292V	CYP4B1_ENST00000371923.4_Missense_Mutation_p.A293V|CYP4B1_ENST00000452782.2_Missense_Mutation_p.A130V|CYP4B1_ENST00000371919.4_Missense_Mutation_p.A278V			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	292					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CTCCTGGGTGCCCGGGTGAGT	0.582													12	16					0	0	0	0	T	47279983	C	T	47279983	3	4	301	1	0	0	0	0	1	0	0	0	4217	739	26	4	904	4	CYP4B1	1	47279983	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	528756	47279983	201970638	5	53877											
ZCCHC11	23318	broad.mit.edu	37	chr1	52940829	52940829	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcactgcttttgctggtaGaaagagatgaagagtcctgt	10	14	11	6	0	1	4	1	1	0	3	2	5	2	4	1	1	2	3	1	1	3	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:52940829G>C	ENST00000371544.3	-	13	2664	c.2402C>G	c.(2401-2403)tCt>tGt	p.S801C	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S801C|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	801					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTTGCTGGTAGAAAGAGATGA	0.358													23	133					0	0	0	0	C	52940829	G	C	52940829	3	2	301	1	0	0	0	0	1	0	0	0	17675	942	33	2	2607	2	ZCCHC11	1	52940829	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	5660846	52940829	196309792	6	53878											
AK5	26289	broad.mit.edu	37	chr1	77806144	77806144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaagcgtgcagaacagcAgggccgaccagacgacaatg	14	3	13	11	3	0	3	0	1	0	2	0	5	0	3	2	1	4	2	2	1	3	0			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:77806144A>G	ENST00000344720.5	+	6	1730	c.704A>G	c.(703-705)cAg>cGg	p.Q235R	AK5_ENST00000354567.2_Missense_Mutation_p.Q261R	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	261					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GCAGAACAGCAGGGCCGACCA	0.468													24	91					0	0	0	0	G	77806144	A	G	77806144	3	3	301	1	0	0	0	0	1	0	0	0	443	188	7	5	804	5	AK5	1	77806144	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08	24865315	77806144	171444477	7	53879											
PTBP2	58155	broad.mit.edu	37	chr1	97236288	97236288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttggaactagcaaccgagGaagcagctattactatggtt	12	12	10	7	1	0	0	0	0	0	0	0	3	0	2	1	3	6	4	1	3	7	7			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:97236288G>A	ENST00000236228.6	+	5	395	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	PTBP2_ENST00000426398.2_Missense_Mutation_p.E105K|PTBP2_ENST00000394184.3_Missense_Mutation_p.E116K|PTBP2_ENST00000370197.1_Missense_Mutation_p.E105K|PTBP2_ENST00000370198.1_Missense_Mutation_p.E105K|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000541987.1_Missense_Mutation_p.E74K	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	105	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AGCAACCGAGGAAGCAGCTAT	0.313													21	55					0	0	0	0	A	97236288	G	A	97236288	3	1	301	1	0	0	0	0	1	0	0	0	12805	1175	41	2	331	2	PTBP2	1	97236288	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	19430144	97236288	152014333	8	53880											
PHTF1	10745	broad.mit.edu	37	chr1	114267424	114267424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaccaccaataatgggtaCagattccaaagtttctattc	16	11	5	9	0	1	1	0	0	1	1	3	1	2	1	3	1	2	2	3	1	7	6			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:114267424C>T	ENST00000369604.1	-	7	1063	c.580G>A	c.(580-582)Gta>Ata	p.V194I	PHTF1_ENST00000447664.2_Missense_Mutation_p.V194I|PHTF1_ENST00000393357.2_Missense_Mutation_p.V194I|PHTF1_ENST00000369596.2_Missense_Mutation_p.V141I|PHTF1_ENST00000369600.1_Missense_Mutation_p.V141I|PHTF1_ENST00000357783.2_Missense_Mutation_p.V194I|PHTF1_ENST00000369598.1_Intron			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	194						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAATGGGTACAGATTCCAAA	0.353													25	42					0	0	0	0	T	114267424	C	T	114267424	3	4	301	1	0	0	0	0	1	0	0	0	11934	478	17	4	1760	4	PHTF1	1	114267424	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	17031136	114267424	134983197	9	53881											
WARS2	10352	broad.mit.edu	37	chr1	119683180	119683180	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggccgtctttggttacctGgagagcgggagcagctgcgg	6	8	18	9	3	1	1	0	0	1	1	1	3	1	2	2	5	5	3	2	5	1	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:119683180G>A	ENST00000369426.5	-	1	91	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	RP11-418J17.1_ENST00000425884.1_RNA|WARS2_ENST00000235521.4_Nonsense_Mutation_p.Q30*|WARS2_ENST00000497761.1_5'UTR|RP11-418J17.1_ENST00000440150.1_RNA			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	30					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTGGTTACCTGGAGAGCGGGA	0.597													6	31					0	0	0	0	A	119683180	G	A	119683180	4	1	301	1	0	0	0	0	0	1	0	0	17346	1357	47	4	1047	4	WARS2	1	119683180	Nonsense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	5415756	119683180	129567441	10	53882											
OR6K2	81448	broad.mit.edu	37	chr1	158669807	158669807	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggacatgaagatgagcatCacagctgtaataatctccac	15	9	8	9	0	2	3	1	2	1	1	3	4	2	4	1	1	2	3	1	1	4	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:158669807C>T	ENST00000359610.2	-	1	679	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGATGAGCATCACAGCTGTAA	0.498													24	99					0	0	0	0	T	158669807	C	T	158669807	2	4	301	1	0	0	0	0	0	0	0	1	11273	813	29	2		2	OR6K2	1	158669807	Silent	SNP	C	TCGA-CV-7263-01A-11D-2012-08	38986627	158669807	90580814	11	53883											
LAMC1	3915	broad.mit.edu	37	chr1	183106849	183106849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaagaacttttgcagaaGttacagatctggataatgag	15	11	10	5	0	1	5	0	2	1	3	1	6	1	6	0	1	3	2	0	1	5	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:183106849G>A	ENST00000258341.4	+	26	4617	c.4360G>A	c.(4360-4362)Gtt>Att	p.V1454I		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1454	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTGCAGAAGTTACAGATCT	0.383													8	39					0	0	0	0	A	183106849	G	A	183106849	3	1	301	1	0	0	0	0	1	0	0	0	8667	1029	36	4	4462	4	LAMC1	1	183106849	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	24437042	183106849	66143772	12	53884											
PTPRC	5788	broad.mit.edu	37	chr1	198665840	198665840	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattttccattaattaacaGgattgactacagcaaagatg	15	12	6	8	0	0	2	0	1	0	1	1	3	1	3	2	1	3	1	2	1	4	6			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:198665840G>A	ENST00000367376.2	+	4	265		c.e4-1		PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000352140.3_Splice_Site|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Splice_Site	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C						axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTAATTAACAGGATTGACTAC	0.418													32	83					0	0	0	0	A	198665840	G	A	198665840	5	1	301	1	0	0	0	0	0	0	1	0	12879	1014	35	4	115	4	PTPRC	1	198665840	Splice_Site	SNP	G	TCGA-CV-7263-01A-11D-2012-08	15558991	198665840	50584781	13	53885											
OBSCN	84033	broad.mit.edu	37	chr1	228548417	228548417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagacggtcacccttcacatCtgcccagacagggatgggga	10	6	13	12	1	3	2	2	0	1	2	3	5	3	4	2	4	1	0	2	4	0	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:228548417C>T	ENST00000284548.11	+	81	19898	c.19824C>T	c.(19822-19824)atC>atT	p.I6608I	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Silent_p.I3727I|OBSCN_ENST00000570156.2_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTTCACATCTGCCCAGACA	0.632													17	29					0	0	0	0	T	228548417	C	T	228548417	2	4	301	1	0	0	0	0	0	0	0	1	10883	903	32	2		2	OBSCN	1	228548417	Silent	SNP	C	TCGA-CV-7263-01A-11D-2012-08	29882577	228548417	20702204	14	53886											
SOX11	6664	broad.mit.edu	37	chr2	5833737	5833737	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagggagcgagcctctacgAcgaggtgcgggccggcgcga	7	3	19	12	8	1	0	0	0	1	0	1	6	1	1	2	4	4	0	2	4	1	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:5833737A>T	ENST00000322002.3	+	1	939	c.884A>T	c.(883-885)gAc>gTc	p.D295V		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	295					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCCTCTACGACGAGGTGCGG	0.711													3	5					0	0	0	0	T	5833737	A	T	5833737	3	4	301	1	0	0	0	0	1	0	0	0	15030	275	10	5	886	5	SOX11	2	5833737	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08		5833737	237365636	15	53887											
NRXN1	9378	broad.mit.edu	37	chr2	50149201	50149201	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagttactgatgtagtttcGactctcgtccacatggtatg	8	15	10	8	2	1	2	0	2	1	0	4	3	2	2	1	1	1	4	1	1	3	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:50149201G>A	ENST00000404971.1	-	24	5864	c.4525C>T	c.(4525-4527)Cga>Tga	p.R1509*	NRXN1_ENST00000405472.3_Nonsense_Mutation_p.R1461*|NRXN1_ENST00000342183.5_Nonsense_Mutation_p.R404*|NRXN1_ENST00000401710.1_Nonsense_Mutation_p.R457*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.R1439*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.R1439*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.R1461*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.R1469*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1439					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R1510*(1)|p.R1439*(1)|p.R404*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGTAGTTTCGACTCTCGTCC	0.478													37	60					0	0	0	0	A	50149201	G	A	50149201	4	1	301	1	0	0	0	0	0	1	0	0	10736	1066	37	1	122	1	NRXN1	2	50149201	Nonsense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	44315464	50149201	193050172	16	53888											
RNF103	7844	broad.mit.edu	37	chr2	86831161	86831161	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattctctaggcaaacaacAcattcagtacagtgcagcat	16	9	6	10	0	2	0	1	0	1	0	3	0	2	0	0	1	5	4	0	1	5	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:86831161A>C	ENST00000237455.4	-	4	2831	c.1863T>G	c.(1861-1863)tgT>tgG	p.C621W	CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	621					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GGCAAACAACACATTCAGTAC	0.423													22	166					0	0	0	0	C	86831161	A	C	86831161	3	2	301	1	0	0	0	0	1	0	0	0	13508	157	6	5	198	5	RNF103	2	86831161	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08	36681960	86831161	156368212	17	53889											
PLEKHB2	55041	broad.mit.edu	37	chr2	131890487	131890487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcaggcgtatgtgggcTctgcagtcatgaccgatgag	7	9	14	11	3	2	2	1	2	1	0	3	3	3	2	2	2	1	4	2	2	1	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:131890487T>C	ENST00000403716.1	+	6	906	c.346T>C	c.(346-348)Tct>Cct	p.S116P	PLEKHB2_ENST00000404460.1_Missense_Mutation_p.S116P|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.S116P|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.S68P|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.S116P|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.S116P|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.S116P|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.S116P|PLEKHB2_ENST00000439822.2_Intron|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.S116P	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	116						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		GTATGTGGGCTCTGCAGTCAT	0.572													31	85					0	0	0	0	C	131890487	T	C	131890487	3	2	301	1	0	0	0	0	1	0	0	0	12137	1551	54	5	364	5	PLEKHB2	2	131890487	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08	45059326	131890487	111308886	18	53890											
LCT	3938	broad.mit.edu	37	chr2	136570169	136570169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggcgttgctgatgaggcGggaggtgtaatgcgacagac	8	8	19	6	3	0	3	0	2	0	1	0	5	0	4	0	5	2	3	0	5	1	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:136570169G>A	ENST00000264162.2	-	7	2075	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	689	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGATGAGGCGGGAGGTGTAA	0.557													20	55					0	0	0	0	A	136570169	G	A	136570169	3	1	301	1	0	0	0	0	1	0	0	0	8746	1116	39	1	3762	1	LCT	2	136570169	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	4679682	136570169	106629204	19	53891											
KIF5C	3800	broad.mit.edu	37	chr2	149806405	149806405	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacgaagctaaaaatatcaAtaagtctttgtctgctcttg	13	14	7	7	1	4	1	1	1	3	0	4	2	4	1	0	0	2	2	0	0	7	5			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:149806405A>G	ENST00000435030.1	+	9	1135	c.767A>G	c.(766-768)aAt>aGt	p.N256S	KIF5C_ENST00000397413.1_Missense_Mutation_p.N24S|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.N161S			O60282	KIF5C_HUMAN	kinesin family member 5C	256	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAAAATATCAATAAGTCTTTG	0.453													9	44					0	0	0	0	G	149806405	A	G	149806405	3	3	301	1	0	0	0	0	1	0	0	0	8358	101	4	5	723	5	KIF5C	2	149806405	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08	13236236	149806405	93392968	20	53892											
SP5	389058	broad.mit.edu	37	chr2	171573597	171573597	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggagccggggaagaagAagcagcacgtgtgccacgtg	11	3	18	9	4	0	2	0	0	0	2	0	4	0	4	2	4	4	2	2	4	3	0			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:171573597A>C	ENST00000375281.3	+	2	1042	c.880A>C	c.(880-882)Aag>Cag	p.K294Q		NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						GGGGAAGAAGAAGCAGCACGT	0.741													3	9					0	0	0	0	C	171573597	A	C	171573597	3	2	301	1	0	0	0	0	1	0	0	0	15055	247	9	5	886	5	SP5	2	171573597	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08	21767192	171573597	71625776	21	53893											
AGPS	8540	broad.mit.edu	37	chr2	178388494	178388494	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcagctgctagagaagaaAtccttgctaatggagggagc	13	7	14	7	0	0	2	0	0	0	2	1	5	1	4	1	3	4	4	1	3	4	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:178388494A>G	ENST00000264167.4	+	19	1962	c.1816A>G	c.(1816-1818)Atc>Gtc	p.I606V	AGPS_ENST00000409888.1_Missense_Mutation_p.I137V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	606					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TAGAGAAGAAATCCTTGCTAA	0.358													18	58					0	0	0	0	G	178388494	A	G	178388494	3	3	301	1	0	0	0	0	1	0	0	0	394	101	4	5	1890	5	AGPS	2	178388494	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08	6814897	178388494	64810879	22	53894											
NDUFS1	4719	broad.mit.edu	37	chr2	206988923	206988923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagcttcagcatatggatgGttcctctactgcctgggcac	8	11	11	11	0	2	0	1	0	1	0	3	2	3	1	2	3	4	4	2	3	3	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:206988923G>A	ENST00000233190.5	-	19	2436	c.2170C>T	c.(2170-2172)Cca>Tca	p.P724S	NDUFS1_ENST00000423725.1_Missense_Mutation_p.P667S|NDUFS1_ENST00000455934.2_Missense_Mutation_p.P738S|NDUFS1_ENST00000457011.1_Missense_Mutation_p.P608S|NDUFS1_ENST00000449699.1_Missense_Mutation_p.P724S|NDUFS1_ENST00000440274.1_Missense_Mutation_p.P688S|NDUFS1_ENST00000432169.1_Missense_Mutation_p.P613S	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	724					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	CATATGGATGGTTCCTCTACT	0.418													15	46					0	0	0	0	A	206988923	G	A	206988923	3	1	301	1	0	0	0	0	1	0	0	0	10361	1261	44	4	17	4	NDUFS1	2	206988923	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	28600429	206988923	36210450	23	53895											
ANKZF1	55139	broad.mit.edu	37	chr2	220098107	220098107	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgaggtgggccatcacaCtctgctggagccaacctgag	8	6	13	14	1	2	1	1	1	1	0	2	3	2	2	4	3	3	1	4	3	1	0			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:220098107C>T	ENST00000323348.5	+	7	945	c.771C>T	c.(769-771)caC>caT	p.H257H	ANKZF1_ENST00000410034.3_Silent_p.H257H|ANKZF1_ENST00000409849.1_Silent_p.H47H	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	257						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCATCACACTCTGCTGGAG	0.522													17	52					0	0	0	0	T	220098107	C	T	220098107	2	4	301	1	0	0	0	0	0	0	0	1	692	564	20	4		4	ANKZF1	2	220098107	Silent	SNP	C	TCGA-CV-7263-01A-11D-2012-08	13109184	220098107	23101266	24	53896											
ALPPL2	251	broad.mit.edu	37	chr2	233272011	233272011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagggatgggggtgtctaCggtgacagctgccaggatcc	7	9	16	9	1	2	1	1	1	1	0	3	3	3	3	2	5	3	1	2	5	1	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:233272011C>T	ENST00000295453.3	+	3	252	c.200C>T	c.(199-201)aCg>aTg	p.T67M		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	67					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GGGGTGTCTACGGTGACAGCT	0.627													22	59					0	0	0	0	T	233272011	C	T	233272011	3	4	301	1	0	0	0	0	1	0	0	0	549	536	19	1	210	1	ALPPL2	2	233272011	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	13173904	233272011	9927362	25	53897											
CSPG5	10675	broad.mit.edu	37	chr3	47618893	47618893	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcgaagtagtcgatgtcaAtgatatctgatgccggttgg	9	13	12	7	3	2	2	1	2	1	0	4	4	2	2	1	2	1	2	1	2	4	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:47618893A>T	ENST00000383738.2	-	2	2721	c.623T>A	c.(622-624)aTt>aAt	p.I208N	CSPG5_ENST00000456150.1_Missense_Mutation_p.I70N|CSPG5_ENST00000264723.4_Missense_Mutation_p.I208N	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	208					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTCGATGTCAATGATATCTGA	0.587													13	24					0	0	0	0	T	47618893	A	T	47618893	3	4	301	1	0	0	0	0	1	0	0	0	3993	101	4	5	1012	5	CSPG5	3	47618893	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08		47618893	150403537	26	53898											
MST1R	4486	broad.mit.edu	37	chr3	49933239	49933239	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcaggataccaaggagCgtgctctgtgggaccccatc	9	6	14	12	1	1	0	0	0	1	0	2	3	1	3	3	4	4	3	3	4	2	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:49933239C>T	ENST00000296474.3	-	12	2898	c.2871G>A	c.(2869-2871)acG>acA	p.T957T	MST1R_ENST00000344206.4_Silent_p.T908T	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	957					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.T957T(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TACCAAGGAGCGTGCTCTGTG	0.607													6	46					0	0	0	0	T	49933239	C	T	49933239	2	4	301	1	0	0	0	0	0	0	0	1	9961	755	27	1		1	MST1R	3	49933239	Silent	SNP	C	TCGA-CV-7263-01A-11D-2012-08	2314346	49933239	148089191	27	53899											
BAP1	8314	broad.mit.edu	37	chr3	52439912	52439913	+	Frame_Shift_Del	DEL	TG	TG	-																															gggtctgaatcagctctggcTgtgttactcttatcagctaa																										TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:52439912_52439913delTG	ENST00000460680.1	-	10	1270_1271	c.799_800delCA	c.(799-801)gfs	p.Q267fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.Q249fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	267					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q267*(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAGCTCTGGCTGTGTTACTCTT	0.52			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							21	44	---	---	---	---					-	52439913	TG	-	52439912	7	5	301	1	0	1	0	1	0	0	0	0	1315	1580	55	0	1421	0	BAP1	3	52439912	Frame_Shift_Del	DEL	TG	TCGA-CV-7263-01A-11D-2012-08	2506673	52439912	145582518	28	53900											
PHLDB2	90102	broad.mit.edu	37	chr3	111686631	111686631	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagccagaggcagaagttaaTagaaaaggaagtaaaaataa	22	6	10	3	0	0	3	0	0	0	3	0	4	0	4	1	2	1	3	1	2	11	5			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:111686631T>A	ENST00000431670.2	+	15	3686	c.3275T>A	c.(3274-3276)aTa>aAa	p.I1092K	PHLDB2_ENST00000495180.1_Missense_Mutation_p.I583K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.I1049K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.I1049K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.I1076K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.I1092K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1092						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CAGAAGTTAATAGAAAAGGAA	0.468											OREG0015707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	29					0	0	0	0	A	111686631	T	A	111686631	3	1	301	1	0	0	0	0	1	0	0	0	11924	1406	49	5	3414	5	PHLDB2	3	111686631	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08	59246719	111686631	86335799	29	53901											
PLXNA1	5361	broad.mit.edu	37	chr3	126752808	126752808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaggcgcggcggcagcGgctgcggagcaagctggagc	7	3	20	11	5	0	1	0	1	0	0	0	3	0	3	0	6	6	5	0	6	1	0			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:126752808G>A	ENST00000393409.2	+	31	5639	c.5639G>A	c.(5638-5640)cGg>cAg	p.R1880Q	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1857Q|PLXNA1_ENST00000505278.1_3'UTR	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1880					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGGCGGCAGCGGCTGCGGAGC	0.652													4	16					0	0	0	0	A	126752808	G	A	126752808	3	1	301	1	0	0	0	0	1	0	0	0	12191	1116	39	1	5761	1	PLXNA1	3	126752808	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	15066177	126752808	71269622	30	53902											
MASP1	5648	broad.mit.edu	37	chr3	186953699	186953699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacgtgtctttgccgccctCgtagtagccagcacagaaca	9	8	10	14	3	1	1	0	0	1	1	2	1	1	1	3	0	4	4	3	0	3	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:186953699C>T	ENST00000296280.6	-	11	2185	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.E541K	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	636	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TTGCCGCCCTCGTAGTAGCCA	0.577													15	66					0	0	0	0	T	186953699	C	T	186953699	3	4	301	1	0	0	0	0	1	0	0	0	9391	893	31	1	1051	1	MASP1	3	186953699	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	60200891	186953699	11068731	31	53903											
TACC3	10460	broad.mit.edu	37	chr4	1746264	1746264	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacgaagagtcactgaagaAgtgcgtggaggattacctgg	13	7	15	6	2	1	3	1	1	0	2	1	7	1	5	1	3	3	0	1	3	5	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:1746264A>G	ENST00000313288.4	+	14	2349	c.2243A>G	c.(2242-2244)aAg>aGg	p.K748R		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	748						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TCACTGAAGAAGTGCGTGGAG	0.612													41	21					0	0	0	0	G	1746264	A	G	1746264	3	3	301	1	0	0	0	0	1	0	0	0	15594	72	3	5	2293	5	TACC3	4	1746264	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08		1746264	189408012	32	53904											
RBPJ	3516	broad.mit.edu	37	chr4	26407892	26407892	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatatggaaatgaaaaaaGgtaagattatttttctggtg	15	14	10	2	0	2	2	1	1	1	1	2	3	2	3	0	3	0	1	0	3	7	5			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:26407892G>A	ENST00000342320.4	+	3	328	c.152_splice	c.e3+1	p.R51_splice	RBPJ_ENST00000507561.1_Splice_Site_p.R30_splice|RBPJ_ENST00000342295.1_Splice_Site_p.R65_splice|RBPJ_ENST00000504907.1_Splice_Site_p.R51_splice|RBPJ_ENST00000345843.3_Splice_Site_p.R50_splice|RBPJ_ENST00000348160.4_Splice_Site_p.R52_splice|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000355476.3_Splice_Site_p.R51_splice|RBPJ_ENST00000361572.6_Splice_Site_p.R65_splice			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	65					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AATGAAAAAAGGTAAGATTAT	0.333													56	37					0	0	0	0	A	26407892	G	A	26407892	5	1	301	1	0	0	0	0	0	0	1	0	13243	1014	35	4	267	4	RBPJ	4	26407892	Splice_Site	SNP	G	TCGA-CV-7263-01A-11D-2012-08	24661628	26407892	164746384	33	53905											
UGT2B11	10720	broad.mit.edu	37	chr4	70080272	70080272	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagaatggaagctgaagatgCcagtacagtcacctcatgac	15	7	10	9	0	2	4	2	2	0	2	2	5	2	5	2	1	3	2	2	1	5	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:70080272C>G	ENST00000446444.1	-	1	177	c.169G>C	c.(169-171)Gca>Cca	p.A57P	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	57					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GCTGAAGATGCCAGTACAGTC	0.393													17	214					0	0	0	0	G	70080272	C	G	70080272	3	3	301	1	0	0	0	0	1	0	0	0	17053	739	26	4	1444	4	UGT2B11	4	70080272	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	43672380	70080272	121074004	34	53906											
FBXW7	55294	broad.mit.edu	37	chr4	153251878	153251886	+	Splice_Site	DEL	AGTTACCTT	AGTTACCTT	-																															tgttacattgtgcagagttcAgttaccttaggagatttgag																										TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:153251878_153251886delAGTTACCTT	ENST00000281708.4	-	7	2349_2352	c.1122_splice	c.e7+1	p.374_splice	FBXW7_ENST00000603841.1_Splice_Site_p.374_splice|FBXW7_ENST00000393956.3_Splice_Site_p.198_splice|FBXW7_ENST00000296555.5_Splice_Site_p.256_splice|FBXW7_ENST00000263981.5_Splice_Site_p.294_splice|FBXW7_ENST00000603548.1_Splice_Site_p.374_splice	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	374					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCAGAGTTCAGTTACCTTAGGAGATTTG	0.388			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								43	56	---	---	---	---					-	153251886	AGTTACCTT	-	153251878	8	5	301	1	0	1	0	1	0	0	1	0	5814	203	7	0		0	FBXW7	4	153251878	Splice_Site	DEL	AGTTACCTT	TCGA-CV-7263-01A-11D-2012-08	83171606	153251878	37902398	35	53907											
RXFP1	59350	broad.mit.edu	37	chr4	159573014	159573014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttaaagaaatgattcatcGgttttggtataactacagac	15	14	7	5	1	1	3	1	1	0	2	2	3	1	3	0	2	2	2	0	2	6	8			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:159573014G>A	ENST00000307765.5	+	18	2332	c.2081G>A	c.(2080-2082)cGg>cAg	p.R694Q	RXFP1_ENST00000343542.5_Missense_Mutation_p.R646Q|RXFP1_ENST00000470033.1_Missense_Mutation_p.R661Q|RXFP1_ENST00000460056.2_Missense_Mutation_p.R613Q|RXFP1_ENST00000448688.2_Missense_Mutation_p.R589Q	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	694						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATGATTCATCGGTTTTGGTAT	0.393													21	54					0	0	0	0	A	159573014	G	A	159573014	3	1	301	1	0	0	0	0	1	0	0	0	13844	1116	39	1	2151	1	RXFP1	4	159573014	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	6321136	159573014	31581262	36	53908											
FAT1	2195	broad.mit.edu	37	chr4	187540845	187540845	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgaacaacagacgttcCaattacagatgcctcagaca	16	8	6	11	1	1	4	1	1	0	3	2	4	2	4	2	0	5	1	2	0	5	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:187540845C>A	ENST00000441802.2	-	10	7104	c.6895G>T	c.(6895-6897)Gga>Tga	p.G2299*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2299	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACAGACGTTCCAATTACAGAT	0.433										HNSCC(5;0.00058)			82	54					1.15773e-35	5.03013e-35	1	0	A	187540845	C	A	187540845	4	1	301	1	0	0	0	0	0	1	0	0	5734	603	21	4	6943	4	FAT1	4	187540845	Nonsense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	27967831	187540845	3613431	37	53909											
DNAH5	1767	broad.mit.edu	37	chr5	13817734	13817734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgtggcaacgtccagcCgaccaaacatctgtggggca	10	8	11	12	2	1	0	0	0	1	0	2	1	2	0	3	3	3	2	3	3	2	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr5:13817734C>T	ENST00000265104.4	-	42	7015	c.6911G>A	c.(6910-6912)cGg>cAg	p.R2304Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2304	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACGTCCAGCCGACCAAACAT	0.403									Kartagener syndrome				27	48					0	0	0	0	T	13817734	C	T	13817734	3	4	301	1	0	0	0	0	1	0	0	0	4641	652	23	1	7115	1	DNAH5	5	13817734	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08		13817734	167097526	38	53910											
MYO10	4651	broad.mit.edu	37	chr5	16682073	16682073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcctccggcgtgtcggCgttgcagtgcagcacccggt	4	9	13	15	5	1	0	0	0	1	0	4	0	2	0	3	3	3	4	3	3	0	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr5:16682073C>T	ENST00000513610.1	-	31	4550	c.4096G>A	c.(4096-4098)Gcc>Acc	p.A1366T	MYO10_ENST00000427430.2_Missense_Mutation_p.A723T|MYO10_ENST00000515803.1_Missense_Mutation_p.A705T|MYO10_ENST00000505695.1_Missense_Mutation_p.A705T|MYO10_ENST00000274203.9_Missense_Mutation_p.A723T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1366					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGCGTGTCGGCGTTGCAGTGC	0.577													22	110					0	0	0	0	T	16682073	C	T	16682073	3	4	301	1	0	0	0	0	1	0	0	0	10132	768	27	1	2124	1	MYO10	5	16682073	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	2864339	16682073	164233187	39	53911											
MCCC2	64087	broad.mit.edu	37	chr5	70927976	70927976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaactggggaagaagtatCtgctgaggatcttggaggtg	10	9	17	5	0	2	2	0	1	2	1	2	5	2	5	0	6	2	3	0	6	4	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr5:70927976C>T	ENST00000340941.6	+	8	896	c.767C>T	c.(766-768)tCt>tTt	p.S256F	MCCC2_ENST00000509358.2_Missense_Mutation_p.S256F|MCCC2_ENST00000323375.8_Missense_Mutation_p.S218F|MCCC2_ENST00000510895.2_3'UTR	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	256	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GAAGAAGTATCTGCTGAGGAT	0.398													18	70					0	0	0	0	T	70927976	C	T	70927976	3	4	301	1	0	0	0	0	1	0	0	0	9444	913	32	2	797	2	MCCC2	5	70927976	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	54245903	70927976	109987284	40	53912											
PRPF4B	8899	broad.mit.edu	37	chr6	4052307	4052307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcacaagcagcatctttGtctggtattcgagcctctca	9	13	7	12	1	4	0	2	0	3	0	6	1	4	0	1	1	3	3	1	1	3	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:4052307G>A	ENST00000337659.6	+	10	2391	c.2291G>A	c.(2290-2292)tGt>tAt	p.C764Y	PRPF4B_ENST00000538861.1_Missense_Mutation_p.C750Y	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	764	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CAGCATCTTTGTCTGGTATTC	0.353													20	38					0	0	0	0	A	4052307	G	A	4052307	3	1	301	1	0	0	0	0	1	0	0	0	12653	1377	48	4	2329	4	PRPF4B	6	4052307	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08		4052307	167062760	41	53913											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027417	26027417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatgttatcccgcagcaCttttcggtgacgcttggcac	6	13	11	11	3	0	1	0	1	0	0	2	2	1	2	1	3	1	5	1	3	1	5			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:26027417C>T	ENST00000377364.3	-	1	63	c.64G>A	c.(64-66)Gtg>Atg	p.V22M		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	22					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						TCCCGCAGCACTTTTCGGTGA	0.532													10	64					0	0	0	0	T	26027417	C	T	26027417	3	4	301	1	0	0	0	0	1	0	0	0	7216	565	20	4	251	4	HIST1H4B	6	26027417	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	21975110	26027417	145087650	42	53914											
HIST1H3I	8354	broad.mit.edu	37	chr6	27839984	27839984	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcggtagcggtggggcttcTtgacgccaccggtggccgga	4	7	19	11	5	1	1	0	1	1	0	1	2	1	2	3	8	1	2	3	8	1	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:27839984T>A	ENST00000328488.2	-	1	115	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTGGGGCTTCTTGACGCCACC	0.672													16	68					0	0	0	0	A	27839984	T	A	27839984	3	1	301	1	0	0	0	0	1	0	0	0	7213	1609	56	5	304	5	HIST1H3I	6	27839984	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08	1812567	27839984	143275083	43	53915											
MAPK13	5603	broad.mit.edu	37	chr6	36106785	36106785	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacggaggcccagcagccgtTtgatgattccttagaacacg	10	8	12	11	3	0	3	0	2	0	1	1	5	1	4	3	2	3	2	3	2	2	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:36106785T>C	ENST00000211287.4	+	11	1233	c.971T>C	c.(970-972)tTt>tCt	p.F324S	MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373759.1_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.F314S	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	324					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CAGCAGCCGTTTGATGATTCC	0.602													15	39					0	0	0	0	C	36106785	T	C	36106785	3	2	301	1	0	0	0	0	1	0	0	0	9344	1841	64	5	1013	5	MAPK13	6	36106785	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08	8266801	36106785	135008282	44	53916											
NR2E1	7101	broad.mit.edu	37	chr6	108502785	108502785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgaactgagaagtttcCggaatgctgccgccattgca	9	11	11	10	2	1	2	0	2	1	1	2	4	2	3	3	1	4	4	3	1	3	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:108502785C>T	ENST00000368986.4	+	8	1633	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	NR2E1_ENST00000368983.3_Missense_Mutation_p.R346W	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	309	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GAGAAGTTTCCGGAATGCTGC	0.483													16	60					0	0	0	0	T	108502785	C	T	108502785	3	4	301	1	0	0	0	0	1	0	0	0	10696	643	23	1	955	1	NR2E1	6	108502785	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	72396000	108502785	62612282	45	53917											
PDE10A	10846	broad.mit.edu	37	chr6	165806230	165806230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgtgataaggaacccGccgatagttcttcttcacag	10	11	9	11	2	3	1	1	1	2	0	3	3	3	2	3	1	1	2	3	1	3	6			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:165806230G>A	ENST00000366882.1	-	17	1685	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	PDE10A_ENST00000354448.4_Missense_Mutation_p.R511W|PDE10A_ENST00000539869.2_Missense_Mutation_p.R521W			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	511					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TAAGGAACCCGCCGATAGTTC	0.428													6	41					0	0	0	0	A	165806230	G	A	165806230	3	1	301	1	0	0	0	0	1	0	0	0	11701	1086	38	1	836	1	PDE10A	6	165806230	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	57303445	165806230	5308837	46	53918											
ZFAND2A	90637	broad.mit.edu	37	chr7	1197817	1197817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgcttgcaagtcttttctGaacaatgcttccccaaatca	10	13	6	12	0	3	1	1	1	2	0	4	1	4	1	2	0	4	4	2	0	4	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:1197817G>A	ENST00000401903.1	-	2	291	c.32C>T	c.(31-33)tCa>tTa	p.S11L	ZFAND2A_ENST00000316495.3_Missense_Mutation_p.S11L			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	11						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		AGTCTTTTCTGAACAATGCTT	0.398													8	398					0	0	0	0	A	1197817	G	A	1197817	3	1	301	1	0	0	0	0	1	0	0	0	17722	1294	45	2	421	2	ZFAND2A	7	1197817	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08		1197817	157940846	47	53919											
ZNF12	7559	broad.mit.edu	37	chr7	6731206	6731206	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctcctgaatgagttctaTaatgtacagtgagatatgac	12	14	8	7	0	2	4	0	4	2	1	4	5	3	4	1	0	1	2	1	0	5	5			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:6731206T>C	ENST00000405858.1	-	5	1908	c.1367A>G	c.(1366-1368)tAt>tGt	p.Y456C	ZNF12_ENST00000342651.5_Missense_Mutation_p.Y418C|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.Y382C	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	456					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		ATGAGTTCTATAATGTACAGT	0.433													17	49					0	0	0	0	C	6731206	T	C	6731206	3	2	301	1	0	0	0	0	1	0	0	0	17813	1406	49	5	730	5	ZNF12	7	6731206	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08	5533389	6731206	152407457	48	53920											
HOXA11	3207	broad.mit.edu	37	chr7	27224479	27224479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccggccgcgctgggcgcCtgcaggcagtctctgtgcac	4	6	15	16	5	1	0	0	0	1	0	2	0	1	0	3	3	2	4	3	3	0	0			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:27224479C>A	ENST00000006015.3	-	1	356	c.285G>T	c.(283-285)caG>caT	p.Q95H	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522863.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	95					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CGCTGGGCGCCTGCAGGCAGT	0.657			T	NUP98	CML								15	54					6.72482e-11	2.80572e-10	1	0	A	27224479	C	A	27224479	3	1	301	1	0	0	0	0	1	0	0	0	7340	680	24	4	664	4	HOXA11	7	27224479	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	20493273	27224479	131914184	49	53921											
PCLO	27445	broad.mit.edu	37	chr7	82585666	82585666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcatcactgcttgatgAgccaacactagttcttcgtt	10	14	6	11	1	3	2	2	2	1	0	4	2	3	2	1	0	4	3	1	0	3	6			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:82585666A>G	ENST00000423517.2	-	5	4940	c.4603T>C	c.(4603-4605)Tca>Cca	p.S1535P	PCLO_ENST00000333891.8_Missense_Mutation_p.S1535P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1466					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGCTTGATGAGCCAACACTA	0.403													6	83					0	0	0	0	G	82585666	A	G	82585666	3	3	301	1	0	0	0	0	1	0	0	0	11654	304	11	5	10926	5	PCLO	7	82585666	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08	55361187	82585666	76552997	50	53922											
ZNF804B	219578	broad.mit.edu	37	chr7	88964789	88964789	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatctattgtgattctaaCtcacagatttcctgtactgg	10	16	6	9	0	4	2	2	1	2	1	5	2	5	2	1	1	2	1	1	1	3	6			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:88964789C>T	ENST00000333190.4	+	4	3102	c.2493C>T	c.(2491-2493)aaC>aaT	p.N831N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	831						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTGATTCTAACTCACAGATTT	0.373										HNSCC(36;0.09)			14	43					0	0	0	0	T	88964789	C	T	88964789	2	4	301	1	0	0	0	0	0	0	0	1	18264	564	20	4		4	ZNF804B	7	88964789	Silent	SNP	C	TCGA-CV-7263-01A-11D-2012-08	6379123	88964789	70173874	51	53923											
FBXL13	222235	broad.mit.edu	37	chr7	102453908	102453908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttccctatcatagccaaAccaacgtggagggtcattag	11	10	8	12	1	2	0	2	0	0	0	4	1	4	1	4	2	3	0	4	2	5	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:102453908A>G	ENST00000393772.2	-	19	2431	c.2005T>C	c.(2005-2007)Ttt>Ctt	p.F669L	FBXL13_ENST00000379306.3_Missense_Mutation_p.F415L|FBXL13_ENST00000313221.4_Missense_Mutation_p.F697L|FBXL13_ENST00000456695.1_Missense_Mutation_p.F415L|FBXL13_ENST00000436908.1_Missense_Mutation_p.F697L|FBXL13_ENST00000379305.3_Missense_Mutation_p.F669L|FBXL13_ENST00000455112.2_Missense_Mutation_p.F652L|FBXL13_ENST00000379308.3_Missense_Mutation_p.F652L			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	697										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCATAGCCAAACCAACGTGGA	0.408													12	117					0	0	0	0	G	102453908	A	G	102453908	3	3	301	1	0	0	0	0	1	0	0	0	5754	43	2	5	122	5	FBXL13	7	102453908	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08	13489119	102453908	56684755	52	53924											
DPP6	1804	broad.mit.edu	37	chr7	154172049	154172049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatagtctgtctcaaaaGaagaaggtcactgtagaaga	17	9	10	5	0	3	4	2	0	2	4	4	5	3	4	0	1	0	1	0	1	8	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:154172049G>T	ENST00000404039.1	+	3	779	c.192G>T	c.(190-192)aaG>aaT	p.K64N	DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Missense_Mutation_p.K66N|DPP6_ENST00000406326.1_Missense_Mutation_p.K128N|DPP6_ENST00000427557.1_Missense_Mutation_p.K66N|DPP6_ENST00000377770.3_Missense_Mutation_p.K128N	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	128					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGTCTCAAAAGAAGAAGGTCA	0.378													17	48					3.99206e-14	1.71088e-13	1	0	T	154172049	G	T	154172049	3	4	301	1	0	0	0	0	1	0	0	0	4766	933	33	2	510	2	DPP6	7	154172049	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	51718141	154172049	4966614	53	53925											
DPP6	1804	broad.mit.edu	37	chr7	154561189	154561189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcacgagactcgcctacGccgccatcaatgattcccgt	9	8	9	15	5	1	2	1	1	0	1	3	3	2	2	4	1	1	1	4	1	2	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:154561189G>A	ENST00000404039.1	+	9	1341	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	DPP6_ENST00000332007.3_Missense_Mutation_p.A254T|DPP6_ENST00000427557.1_Missense_Mutation_p.A209T|DPP6_ENST00000377770.3_Missense_Mutation_p.A316T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	316					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACTCGCCTACGCCGCCATCAA	0.522													12	65					0	0	0	0	A	154561189	G	A	154561189	3	1	301	1	0	0	0	0	1	0	0	0	4766	1087	38	1	1096	1	DPP6	7	154561189	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	389140	154561189	4577474	54	53926											
IDO1	3620	broad.mit.edu	37	chr8	39775722	39775722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaggtcatggagatgtccGtaaggtttggagattttctc	10	13	12	6	1	2	2	1	0	1	2	4	4	3	2	1	4	0	2	1	4	2	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr8:39775722G>A	ENST00000518237.1	+	3	938	c.299G>A	c.(298-300)cGt>cAt	p.R100H	RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R100H	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	100					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GGAGATGTCCGTAAGGTTTGG	0.393													16	80					0	0	0	0	A	39775722	G	A	39775722	3	1	301	1	0	0	0	0	1	0	0	0	7554	1145	40	1	309	1	IDO1	8	39775722	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08		39775722	106588300	55	53927											
SLCO5A1	81796	broad.mit.edu	37	chr8	70674022	70674022	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtcaaggtgaacaggAtttctgggatcaacataaaa	14	11	10	6	0	4	1	2	1	2	0	4	3	4	3	0	4	2	0	0	4	5	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr8:70674022A>G	ENST00000260126.3	-	3	1702	c.996T>C	c.(994-996)aaT>aaC	p.N332N	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.N332N|SLCO5A1_ENST00000530307.1_Silent_p.N332N	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	332						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGTGAACAGGATTTCTGGGAT	0.378													4	55					0	0	0	0	G	70674022	A	G	70674022	2	3	301	1	0	0	0	0	0	0	0	1	14819	330	12	5		5	SLCO5A1	8	70674022	Silent	SNP	A	TCGA-CV-7263-01A-11D-2012-08	30898300	70674022	75690000	56	53928											
SNTB1	6641	broad.mit.edu	37	chr8	121706116	121706116	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatactggggatcctttctTcacatagggcgtggcttctc	6	13	12	10	1	3	0	1	0	2	0	5	2	4	2	1	5	1	1	1	5	2	5			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr8:121706116T>C	ENST00000395601.3	-	3	1018	c.604A>G	c.(604-606)Aag>Gag	p.K202E	SNTB1_ENST00000517992.1_Missense_Mutation_p.K202E|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	202	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GATCCTTTCTTCACATAGGGC	0.517													21	86					0	0	0	0	C	121706116	T	C	121706116	3	2	301	1	0	0	0	0	1	0	0	0	14960	1792	62	5	1036	5	SNTB1	8	121706116	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08	51032094	121706116	24657906	57	53929											
LRRC6	23639	broad.mit.edu	37	chr8	133596002	133596002	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catagatttgaatgctcgctGaccacctgtgattacttctc	9	14	7	11	1	1	4	0	3	1	1	3	4	1	4	2	0	2	2	2	0	3	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr8:133596002G>A	ENST00000519595.1	-	11	1263	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	LRRC6_ENST00000250173.1_Nonsense_Mutation_p.Q389*|LRRC6_ENST00000518642.1_Nonsense_Mutation_p.Q386*			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	389	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AATGCTCGCTGACCACCTGTG	0.378													33	42					0	0	0	0	A	133596002	G	A	133596002	4	1	301	1	0	0	0	0	0	1	0	0	9080	1299	45	2	243	2	LRRC6	8	133596002	Nonsense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	11889886	133596002	12768020	58	53930											
NFX1	4799	broad.mit.edu	37	chr9	33294473	33294473	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcctcaggagaaaaaaaaTtctggtctaaattgtgggac	15	11	9	6	0	3	1	1	0	2	1	4	3	4	2	1	3	0	0	1	3	6	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr9:33294473T>A	ENST00000379540.3	+	2	143	c.81T>A	c.(79-81)aaT>aaA	p.N27K	NFX1_ENST00000318524.6_Missense_Mutation_p.N27K|NFX1_ENST00000379521.4_Missense_Mutation_p.N27K	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	27					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGAAAAAAAATTCTGGTCTAA	0.383													84	104					0	0	0	0	A	33294473	T	A	33294473	3	1	301	1	0	0	0	0	1	0	0	0	10457	1490	52	5	87	5	NFX1	9	33294473	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08		33294473	107918958	59	53931											
VPS13A	23230	broad.mit.edu	37	chr9	79955422	79955422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaaataccatatatcagtgGctgaagaaggaaatgataaa	19	8	9	5	0	1	3	1	2	0	1	1	4	1	4	1	2	1	2	1	2	9	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr9:79955422G>A	ENST00000360280.3	+	50	7242	c.6982G>A	c.(6982-6984)Gct>Act	p.A2328T	VPS13A_ENST00000357409.5_Missense_Mutation_p.A2328T|VPS13A_ENST00000376634.4_Missense_Mutation_p.A2328T|VPS13A_ENST00000376636.3_Missense_Mutation_p.A2289T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2328					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATATCAGTGGCTGAAGAAGG	0.338													17	56					0	0	0	0	A	79955422	G	A	79955422	3	1	301	1	0	0	0	0	1	0	0	0	17285	1203	42	4	7180	4	VPS13A	9	79955422	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	46660949	79955422	61258009	60	53932											
OR1L8	138881	broad.mit.edu	37	chr9	125330736	125330736	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaactcggagacactgctGgtgtggttgattctttccat	9	14	10	8	1	1	2	0	1	1	1	3	3	2	2	1	3	2	2	1	3	2	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr9:125330736G>T	ENST00000304865.2	-	1	102	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGACACTGCTGGTGTGGTTGA	0.448													7	54					2.74318e-10	1.13698e-09	1	0	T	125330736	G	T	125330736	2	4	301	1	0	0	0	0	0	0	0	1	11038	1335	47	4		4	OR1L8	9	125330736	Silent	SNP	G	TCGA-CV-7263-01A-11D-2012-08	45375314	125330736	15882695	61	53933											
ODF2	4957	broad.mit.edu	37	chr9	131247076	131247076	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagaccgagacaaagagAgcttgaagaaggccatccga	16	3	14	8	2	0	5	0	1	0	4	1	9	1	5	3	2	1	1	3	2	3	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr9:131247076A>T	ENST00000303890.5	+	14	1714	c.1129A>T	c.(1129-1131)Agc>Tgc	p.S377C	ODF2_ENST00000393533.2_Missense_Mutation_p.S401C|ODF2_ENST00000372814.3_Missense_Mutation_p.S445C|ODF2_ENST00000546203.1_Missense_Mutation_p.S382C|ODF2_ENST00000372796.4_Missense_Mutation_p.S401C|ODF2_ENST00000372807.5_Missense_Mutation_p.S396C|ODF2_ENST00000444119.2_Missense_Mutation_p.S377C|ODF2_ENST00000351030.3_Missense_Mutation_p.S396C|ODF2_ENST00000434106.2_Missense_Mutation_p.S401C|ODF2_ENST00000372791.3_Missense_Mutation_p.S382C|ODF2_ENST00000448249.3_Missense_Mutation_p.S320C	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	401					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGACAAAGAGAGCTTGAAGAA	0.577													5	16					0	0	0	0	T	131247076	A	T	131247076	3	4	301	1	0	0	0	0	1	0	0	0	10898	304	11	5	1298	5	ODF2	9	131247076	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08	5916340	131247076	9966355	62	53934											
SNAPC4	6621	broad.mit.edu	37	chr9	139273385	139273385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgccaggagccagaaGtgccaggtttggctgccgcg	6	7	14	14	2	0	1	0	0	0	1	1	2	1	2	6	3	4	2	6	3	1	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr9:139273385G>A	ENST00000298532.2	-	21	3262	c.2894C>T	c.(2893-2895)aCt>aTt	p.T965I		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	965	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGAGCCAGAAGTGCCAGGTTT	0.667													14	23					0	0	0	0	A	139273385	G	A	139273385	3	1	301	1	0	0	0	0	1	0	0	0	14925	1029	36	4	1523	4	SNAPC4	9	139273385	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	8026309	139273385	1940046	63	53935											
MBL2	4153	broad.mit.edu	37	chr10	54528241	54528241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaggaagaacttgttccCaacttgtttgcccagagaga	11	10	11	9	0	1	3	1	0	0	3	2	5	2	4	2	2	3	2	2	2	3	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:54528241C>T	ENST00000373968.3	-	4	467	c.403G>A	c.(403-405)Ggg>Agg	p.G135R	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	135	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						AACTTGTTCCCAACTTGTTTG	0.453													18	103					0	0	0	0	T	54528241	C	T	54528241	3	4	301	1	0	0	0	0	1	0	0	0	9419	594	21	4	347	4	MBL2	10	54528241	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08		54528241	81006506	64	53936											
DUPD1	338599	broad.mit.edu	37	chr10	76797686	76797686	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagctcccggagctgctTcaaaaagccccggttcggga	8	7	12	14	3	1	0	1	0	0	0	4	2	3	2	4	3	4	4	4	3	2	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:76797686T>G	ENST00000338487.5	-	3	570	c.571A>C	c.(571-573)Aag>Cag	p.K191Q		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	191	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGGAGCTGCTTCAAAAAGCCC	0.642													19	65					0	0	0	0	G	76797686	T	G	76797686	3	3	301	1	0	0	0	0	1	0	0	0	4840	1792	62	5	95	5	DUPD1	10	76797686	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08	22269445	76797686	58737061	65	53937											
C10orf12	26148	broad.mit.edu	37	chr10	98742212	98742212	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acggaggagatgagtgtaccCcaggactgtcacctccttcc	9	8	11	13	1	1	2	1	1	0	1	3	5	3	4	5	3	1	1	5	3	1	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:98742212C>T	ENST00000286067.2	+	1	1172	c.1065C>T	c.(1063-1065)ccC>ccT	p.P355P		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	355										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGAGTGTACCCCAGGACTGTC	0.522													37	80					0	0	0	0	T	98742212	C	T	98742212	2	4	301	1	0	0	0	0	0	0	0	1	1599	610	22	4		4	C10orf12	10	98742212	Silent	SNP	C	TCGA-CV-7263-01A-11D-2012-08	21944526	98742212	36792535	66	53938											
GFRA1	2674	broad.mit.edu	37	chr10	118030435	118030435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagcgacttctgcttcaggGcctccatggcgctgcggcac	6	8	13	14	3	2	1	1	0	1	1	3	2	3	1	2	3	3	3	2	3	0	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:118030435G>A	ENST00000439649.3	-	3	600	c.233C>T	c.(232-234)gCc>gTc	p.A78V	GFRA1_ENST00000369236.1_Missense_Mutation_p.A78V|GFRA1_ENST00000355422.6_Missense_Mutation_p.A78V	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	78					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTGCTTCAGGGCCTCCATGGC	0.602													13	34					0	0	0	0	A	118030435	G	A	118030435	3	1	301	1	0	0	0	0	1	0	0	0	6398	1203	42	4	1200	4	GFRA1	10	118030435	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	19288223	118030435	17504312	67	53939											
PDZD8	118987	broad.mit.edu	37	chr10	119043244	119043244	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctcttttctcactaaCtttattcctgtgctgtttcc	5	18	3	15	0	2	0	1	0	2	0	5	0	4	0	4	0	2	2	4	0	2	7			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:119043244C>A	ENST00000334464.5	-	5	3239	c.3000G>T	c.(2998-3000)aaG>aaT	p.K1000N		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1000					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TTCTCACTAACTTTATTCCTG	0.478													88	167					2.93434e-44	1.28377e-43	1	0	A	119043244	C	A	119043244	3	1	301	1	0	0	0	0	1	0	0	0	11776	564	20	4	468	4	PDZD8	10	119043244	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	1012809	119043244	16491503	68	53940											
GRK5	2869	broad.mit.edu	37	chr10	121212266	121212266	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctggaccacacagacgaCgacttctactccaagttctc	12	9	6	14	2	3	1	0	0	3	1	5	4	4	2	2	1	1	1	2	1	3	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:121212266C>T	ENST00000392870.2	+	14	1817	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D	GRK5_ENST00000369108.3_Silent_p.D391D|GRK5_ENST00000473264.1_3'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	496	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		ACACAGACGACGACTTCTACT	0.597													9	25					0	0	0	0	T	121212266	C	T	121212266	2	4	301	1	0	0	0	0	0	0	0	1	6842	535	19	1		1	GRK5	10	121212266	Silent	SNP	C	TCGA-CV-7263-01A-11D-2012-08	2169022	121212266	14322481	69	53941											
CPXM2	119587	broad.mit.edu	37	chr10	125530495	125530495	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcttcaggccctggtggcTttttccaatgttgtaaattc	7	15	9	10	0	1	0	1	0	0	0	3	0	2	0	2	3	1	4	2	3	3	6			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:125530495T>C	ENST00000241305.3	-	8	1193	c.1039A>G	c.(1039-1041)Agc>Ggc	p.S347G	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	347					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCCTGGTGGCTTTTTCCAATG	0.458													4	337					0	0	0	0	C	125530495	T	C	125530495	3	2	301	1	0	0	0	0	1	0	0	0	3868	1609	56	5	1259	5	CPXM2	10	125530495	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08	4318229	125530495	10004252	70	53942											
MUC5B	727897	broad.mit.edu	37	chr11	1272638	1272638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccctgtcctccaccccagGgaccacctggatcctcacag	8	6	7	20	0	1	0	1	0	0	0	4	2	4	2	8	2	0	0	8	2	0	0			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:1272638G>A	ENST00000447027.1	+	31	14595	c.14537G>A	c.(14536-14538)gGg>gAg	p.G4846E	MUC5B_ENST00000529681.1_Missense_Mutation_p.G4843E			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4843	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCACCCCAGGGACCACCTGG	0.637													52	84					0	0	0	0	A	1272638	G	A	1272638	3	1	301	1	0	0	0	0	1	0	0	0	10049	1232	43	4	14659	4	MUC5B	11	1272638	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08		1272638	133733878	71	53943											
LGR4	55366	broad.mit.edu	37	chr11	27397864	27397864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaatccttagagatatcAggccttgaaaggtgccttcc	12	10	9	10	0	1	3	1	1	0	2	3	4	3	3	4	2	1	0	4	2	4	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:27397864A>G	ENST00000379214.4	-	13	1606	c.1163T>C	c.(1162-1164)cTg>cCg	p.L388P	LGR4_ENST00000389858.4_Missense_Mutation_p.L364P	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	388						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TAGAGATATCAGGCCTTGAAA	0.294													3	123					0	0	0	0	G	27397864	A	G	27397864	3	3	301	1	0	0	0	0	1	0	0	0	8810	188	7	5	1716	5	LGR4	11	27397864	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08	26125226	27397864	107608652	72	53944											
PYGM	5837	broad.mit.edu	37	chr11	64519456	64519456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtttatattcgtgaatccGcttcacctggatgtcgaaga	9	14	9	9	4	1	2	1	1	0	1	5	4	2	3	2	1	0	2	2	1	4	5			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:64519456G>A	ENST00000164139.3	-	14	2106	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Missense_Mutation_p.R482W	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	570					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TCGTGAATCCGCTTCACCTGG	0.512													15	81					0	0	0	0	A	64519456	G	A	64519456	3	1	301	1	0	0	0	0	1	0	0	0	12944	1086	38	1	848	1	PYGM	11	64519456	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	37121592	64519456	70487060	73	53945											
CLCF1	23529	broad.mit.edu	37	chr11	67134940	67134940	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatactcacataggtcccAgccaagctgcggagttggtg	9	9	13	10	1	1	0	1	0	0	0	2	2	2	2	2	4	4	2	2	4	3	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:67134940A>T	ENST00000312438.7	-	2	371	c.174T>A	c.(172-174)gcT>gcA	p.A58A	AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000528474.1_Silent_p.A48A|CLCF1_ENST00000533438.1_Silent_p.A48A	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	58					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			CATAGGTCCCAGCCAAGCTGC	0.577													38	68					0	0	0	0	T	67134940	A	T	67134940	2	4	301	1	0	0	0	0	0	0	0	1	3491	175	7	5		5	CLCF1	11	67134940	Silent	SNP	A	TCGA-CV-7263-01A-11D-2012-08	2615484	67134940	67871576	74	53946											
MMP20	9313	broad.mit.edu	37	chr11	102480739	102480739	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagtcccccgaggcccatcGaatggataggaatccccgtg	10	6	12	13	3	0	1	0	0	0	1	3	5	2	3	5	3	0	0	5	3	3	1	rs148659857	byFrequency	TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:102480739G>A	ENST00000260228.2	-	4	558	c.546C>T	c.(544-546)ttC>ttT	p.F182F	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	182					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GAGGCCCATCGAATGGATAGG	0.498													8	40					0	0	0	0	A	102480739	G	A	102480739	2	1	301	1	0	0	0	0	0	0	0	1	9728	1049	37	1		1	MMP20	11	102480739	Silent	SNP	G	TCGA-CV-7263-01A-11D-2012-08	35345799	102480739	32525777	75	53947											
PCSK7	9159	broad.mit.edu	37	chr11	117095455	117095455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccatccactgtcttcccatCgtcatctggtccccagctgt	5	12	7	17	1	3	0	1	0	2	0	7	0	6	0	5	1	1	1	5	1	0	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:117095455C>T	ENST00000320934.3	-	7	1507	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	293	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTCTTCCCATCGTCATCTGGT	0.577			T	IGH@	MLCLS								50	191					0	0	0	0	T	117095455	C	T	117095455	3	4	301	1	0	0	0	0	1	0	0	0	11676	884	31	1	1524	1	PCSK7	11	117095455	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	14614716	117095455	17911061	76	53948											
DSCAML1	57453	broad.mit.edu	37	chr11	117303096	117303096	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccggatgtcagacatgtcGatgaggggtcctgtgctctg	6	10	16	9	2	2	2	1	1	1	1	4	4	3	3	2	4	1	1	2	4	0	0			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:117303096G>A	ENST00000321322.6	-	30	5332	c.5331C>T	c.(5329-5331)atC>atT	p.I1777I	DSCAML1_ENST00000527706.1_Silent_p.I1507I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1717					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CAGACATGTCGATGAGGGGTC	0.572													6	42					0	0	0	0	A	117303096	G	A	117303096	2	1	301	1	0	0	0	0	0	0	0	1	4805	1048	37	1		1	DSCAML1	11	117303096	Silent	SNP	G	TCGA-CV-7263-01A-11D-2012-08	207641	117303096	17703420	77	53949											
TBCEL	219899	broad.mit.edu	37	chr11	120925792	120925792	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcctgtgccttaatgacTatgaaacagtgtcttgtcct	8	16	7	10	0	2	2	0	2	2	0	4	2	4	2	3	0	2	0	3	0	3	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:120925792T>C	ENST00000422003.2	+	5	675	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	TBCEL_ENST00000529397.1_Missense_Mutation_p.Y163H	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	163						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		CCTTAATGACTATGAAACAGT	0.348													10	46					0	0	0	0	C	120925792	T	C	120925792	3	2	301	1	0	0	0	0	1	0	0	0	15729	1522	53	5	501	5	TBCEL	11	120925792	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08	3622696	120925792	14080724	78	53950											
NRGN	4900	broad.mit.edu	37	chr11	124615418	124615418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacgcctgctccaagcCggacgacgacattctagaca	12	5	11	13	4	1	2	0	0	1	2	2	6	2	3	3	2	3	1	3	2	3	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:124615418C>T	ENST00000526916.2	+	2	175	c.35C>T	c.(34-36)cCg>cTg	p.P12L	RP11-677M14.2_ENST00000531241.1_RNA|NRGN_ENST00000412681.1_Missense_Mutation_p.P12L|NRGN_ENST00000284292.5_Missense_Mutation_p.P12L			Q92686	NEUG_HUMAN	neurogranin (protein kinase C substrate, RC3)	12					nervous system development|signal transduction		calmodulin binding					all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGCTCCAAGCCGGACGACGAC	0.647													9	56					0	0	0	0	T	124615418	C	T	124615418	3	4	301	1	0	0	0	0	1	0	0	0	10722	652	23	1	41	1	NRGN	11	124615418	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	3689626	124615418	10391098	79	53951											
MGP	4256	broad.mit.edu	37	chr12	15035958	15035958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggggatatgaaggtatttgCatttctcctgttaatgaagg	11	14	12	4	0	1	2	0	2	1	0	2	3	1	3	1	4	1	3	1	4	5	5			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:15035958C>T	ENST00000539261.1	-	3	252	c.118G>A	c.(118-120)Gca>Aca	p.A40T	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Missense_Mutation_p.A65T	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	40					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						AAGGTATTTGCATTTCTCCTG	0.383													11	32					0	0	0	0	T	15035958	C	T	15035958	3	4	301	1	0	0	0	0	1	0	0	0	9627	710	25	4	201	4	MGP	12	15035958	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08		15035958	118815937	80	53952											
PDE3A	5139	broad.mit.edu	37	chr12	20782996	20782996	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaggttctcacagggccttAacttacactcagagtgcccc	9	10	8	14	0	2	1	2	0	1	1	3	1	2	1	3	2	3	1	3	2	3	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:20782996A>T	ENST00000359062.3	+	6	1735	c.1695A>T	c.(1693-1695)ttA>ttT	p.L565F	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	565					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ACAGGGCCTTAACTTACACTC	0.453													77	121					0	0	0	0	T	20782996	A	T	20782996	3	4	301	1	0	0	0	0	1	0	0	0	11708	359	13	5	1717	5	PDE3A	12	20782996	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08	5747038	20782996	113068899	81	53953											
NUP107	57122	broad.mit.edu	37	chr12	69083344	69083344	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagatgaaaattttggtaaTactacaccaagaaaccaggt	18	9	7	7	0	0	3	0	1	0	2	0	3	0	3	2	2	3	1	2	2	8	5			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:69083344T>C	ENST00000539906.1	+	3	261	c.17T>C	c.(16-18)aTa>aCa	p.I6T	NUP107_ENST00000229179.4_Silent_p.N44N|NUP107_ENST00000378905.2_5'UTR			P57740	NU107_HUMAN	nucleoporin 107kDa	0					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ATTTTGGTAATACTACACCAA	0.328													16	48					0	0	0	0	C	69083344	T	C	69083344	3	2	301	1	0	0	0	0	1	0	0	0	10824	1403	49	5	142	5	NUP107	12	69083344	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08	48300348	69083344	64768551	82	53954											
ANO4	121601	broad.mit.edu	37	chr12	101295618	101295618	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaaagtcttccacccaGgtgatgcatggggaagttca	13	8	10	10	0	2	1	1	1	1	0	3	2	3	2	3	3	2	2	3	3	3	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:101295618G>A	ENST00000392979.3	+	2	416	c.55_splice	c.e2+1	p.V19_splice	ANO4_ENST00000538618.1_Splice_Site_p.E185_splice|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Splice_Site_p.E19_splice	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	54						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTTCCACCCAGGTGATGCATG	0.443										HNSCC(74;0.22)			29	69					0	0	0	0	A	101295618	G	A	101295618	5	1	301	1	0	0	0	0	0	0	1	0	698	1014	35	4	57	4	ANO4	12	101295618	Splice_Site	SNP	G	TCGA-CV-7263-01A-11D-2012-08	32212274	101295618	32556277	83	53955											
PTPN11	5781	broad.mit.edu	37	chr12	112940025	112940025	+	Silent	SNP	T	T	C																															acgagtggagatcagagcccTctcccgccttgtactccaac																										TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:112940025T>C	ENST00000351677.2	+	14	1875	c.1677T>C	c.(1675-1677)ccT>ccC	p.P559P		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	563					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATCAGAGCCCTCTCCCGCCTT	0.428			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				5	162					0	0	0	0	C	112940025	T	C	112940025	2	2	301	1	0	0	0	0	0	0	0	1	12860	1538	54	5		5	PTPN11	12	112940025	Silent	SNP	T	TCGA-CV-7263-01A-11D-2012-08	11644407	112940025	20911870	84	53956	432	2									
PTPN11	5781	broad.mit.edu	37	chr12	112940027	112940027	+	Missense_Mutation	SNP	T	T	C																															gagtggagatcagagccctcTcccgccttgtactccaacgc																										TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:112940027T>C	ENST00000351677.2	+	14	1877	c.1679T>C	c.(1678-1680)cTc>cCc	p.L560P		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	564					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CAGAGCCCTCTCCCGCCTTGT	0.428			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				5	164					0	0	0	0	C	112940027	T	C	112940027	3	2	301	1	0	0	0	0	1	0	0	0	12860	1551	54	5	1733	5	PTPN11	12	112940027	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08	2	112940027	20911868	85	53957	432	2									
DTX1	1840	broad.mit.edu	37	chr12	113496166	113496166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtgctgaaggaggacgctCgcggttccgtggtcctgggg	5	8	18	10	5	0	1	0	1	0	0	3	3	2	3	2	6	1	3	2	6	1	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:113496166C>T	ENST00000257600.3	+	1	672	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	57	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAGGACGCTCGCGGTTCCGT	0.642													26	101					0	0	0	0	T	113496166	C	T	113496166	3	4	301	1	0	0	0	0	1	0	0	0	4829	884	31	1	171	1	DTX1	12	113496166	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	556139	113496166	20355729	86	53958											
SYNE2	23224	broad.mit.edu	37	chr14	64522880	64522880	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaactgggaatgatatcCagccccgaagccaaactaca	16	5	9	11	1	0	2	0	1	0	1	1	5	1	3	4	1	5	0	4	1	6	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr14:64522880C>T	ENST00000358025.3	+	49	10193	c.9963C>T	c.(9961-9963)tcC>tcT	p.S3321S	SYNE2_ENST00000554584.1_Silent_p.S3354S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.S3321S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3321					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAATGATATCCAGCCCCGAAG	0.433													8	31					0	0	0	0	T	64522880	C	T	64522880	2	4	301	1	0	0	0	0	0	0	0	1	15537	581	21	4		4	SYNE2	14	64522880	Silent	SNP	C	TCGA-CV-7263-01A-11D-2012-08		64522880	42826660	87	53959											
TJP1	7082	broad.mit.edu	37	chr15	30008972	30008972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataatattcttcatcttcttCagggtcataatgattggacc	11	16	6	8	0	6	1	3	1	3	0	6	2	6	2	1	2	0	0	1	2	3	8			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr15:30008972C>T	ENST00000346128.6	-	23	4519	c.4045G>A	c.(4045-4047)Gaa>Aaa	p.E1349K	TJP1_ENST00000356107.6_Missense_Mutation_p.E1349K|TJP1_ENST00000400011.2_Missense_Mutation_p.E1273K|TJP1_ENST00000545208.2_Missense_Mutation_p.E1269K	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1349					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCATCTTCTTCAGGGTCATAA	0.428													9	46					0	0	0	0	T	30008972	C	T	30008972	3	4	301	1	0	0	0	0	1	0	0	0	16023	835	29	2	1225	2	TJP1	15	30008972	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08		30008972	72522420	88	53960											
UBR1	197131	broad.mit.edu	37	chr15	43360173	43360173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgtaggctgtatatgaCgtggtcatatgaatggtgtt	8	17	12	4	1	2	2	1	2	1	0	2	2	2	2	0	3	0	4	0	3	5	6			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr15:43360173C>T	ENST00000290650.4	-	6	799	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	UBR1_ENST00000382177.2_Missense_Mutation_p.V241I	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	241					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTGTATATGACGTGGTCATAT	0.388													11	83					0	0	0	0	T	43360173	C	T	43360173	3	4	301	1	0	0	0	0	1	0	0	0	16997	536	19	1	4696	1	UBR1	15	43360173	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	13351201	43360173	59171219	89	53961											
NHLRC4	283948	broad.mit.edu	37	chr16	618123	618123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgtgagtgaggagtttgggGatgtgaggctgtttggcagt	6	13	19	3	0	0	3	0	3	0	0	0	5	0	5	0	5	0	4	0	5	0	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr16:618123G>A	ENST00000424439.2	+	2	733	c.76G>A	c.(76-78)Gat>Aat	p.D26N	PIGQ_ENST00000409527.2_Intron|NHLRC4_ENST00000540585.1_Missense_Mutation_p.D26N			P0CG21	NHLC4_HUMAN	NHL repeat containing 4	26																	GGAGTTTGGGGATGTGAGGCT	0.687													6	14					0	0	0	0	A	618123	G	A	618123	3	1	301	1	0	0	0	0	1	0	0	0	10478	1174	41	2	78	2	NHLRC4	16	618123	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08		618123	89736630	90	53962											
SMG1	23049	broad.mit.edu	37	chr16	18828771	18828771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaactttcaaaatgaatgaTattgctgcagagaaatgtga	17	12	8	4	0	1	4	1	3	0	1	1	5	1	4	0	0	3	2	0	0	7	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr16:18828771T>C	ENST00000446231.2	-	57	10328	c.9916A>G	c.(9916-9918)Atc>Gtc	p.I3306V	SMG1_ENST00000389467.3_Missense_Mutation_p.I3307V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3306					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAATGAATGATATTGCTGCAG	0.413													2	8					0	0	0	0	C	18828771	T	C	18828771	3	2	301	1	0	0	0	0	1	0	0	0	14883	1406	49	5	1097	5	SMG1	16	18828771	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08	18210648	18828771	71525982	91	53963											
GTF3C1	2975	broad.mit.edu	37	chr16	27544670	27544670	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtccgtgtgctcagcatgAccgaaagcttctccatgagg	9	10	11	11	2	2	2	1	2	1	0	4	3	3	2	3	1	3	3	3	1	2	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr16:27544670A>T	ENST00000356183.4	-	5	806	c.791T>A	c.(790-792)gTc>gAc	p.V264D	GTF3C1_ENST00000561623.1_Missense_Mutation_p.V264D	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	264						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTCAGCATGACCGAAAGCTT	0.522													21	54					0	0	0	0	T	27544670	A	T	27544670	3	4	301	1	0	0	0	0	1	0	0	0	6922	275	10	5	5670	5	GTF3C1	16	27544670	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08	8715899	27544670	62810083	92	53964											
P2RX1	5023	broad.mit.edu	37	chr17	3819557	3819557	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaactgagccccctgcaCggcctctgctctcagggtga	7	8	11	15	1	3	3	2	2	2	1	4	3	3	3	3	2	4	2	3	2	1	0			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:3819557C>T	ENST00000225538.3	-	0	237					NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1						platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GCCCCCTGCACGGCCTCTGCT	0.677													17	40					0	0	0	0	T	3819557	C	T	3819557	1	4	301	1	0	0	0	0	0	0	0	0	11410	551	19	1		1	P2RX1	17	3819557	Translation_Start_Site	SNP	C	TCGA-CV-7263-01A-11D-2012-08		3819557	77375653	93	53965											
NUP88	4927	broad.mit.edu	37	chr17	5290067	5290067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaatgcactttcgctggtagGcactgagaataatggtgggt	10	11	14	6	1	0	1	0	1	0	1	1	3	0	1	0	4	1	4	0	4	4	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:5290067G>A	ENST00000573584.1	-	16	2632	c.2123C>T	c.(2122-2124)gCc>gTc	p.A708V		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	708					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TCGCTGGTAGGCACTGAGAAT	0.368													32	46					0	0	0	0	A	5290067	G	A	5290067	3	1	301	1	0	0	0	0	1	0	0	0	10842	1203	42	4	110	4	NUP88	17	5290067	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	1470510	5290067	75905143	94	53966											
TP53	7157	broad.mit.edu	37	chr17	7579378	7579378	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggaaaccgtagctgccctgGtaggttttctgggaagggac	8	9	15	9	2	1	0	0	0	1	0	1	3	1	3	2	5	3	4	2	5	4	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:7579378G>C	ENST00000420246.2	-	4	441	c.309C>G	c.(307-309)taC>taG	p.Y103*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Y103*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Y103*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Y103*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	103	Interaction with HIPK1 (By similarity).|Interaction with WWOX.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y103*(10)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103Y(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGCTGCCCTGGTAGGTTTTCT	0.637		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	46					0	0	0	0	C	7579378	G	C	7579378	4	2	301	1	0	0	0	0	0	1	0	0	16476	1256	44	4	993	4	TP53	17	7579378	Nonsense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	2289311	7579378	73615832	95	53967											
CHD3	1107	broad.mit.edu	37	chr17	7802768	7802768	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctatgtggtgacatacacGggtgacaaggacagccgggc	10	8	14	9	2	1	2	0	2	1	0	1	3	1	3	1	4	2	0	1	4	3	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:7802768G>A	ENST00000380358.4	+	15	2629	c.2628G>A	c.(2626-2628)acG>acA	p.T876T	CHD3_ENST00000358181.4_Silent_p.T817T|CHD3_ENST00000330494.7_Silent_p.T817T	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	817	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGACATACACGGGTGACAAGG	0.498													43	78					0	0	0	0	A	7802768	G	A	7802768	2	1	301	1	0	0	0	0	0	0	0	1	3355	1103	39	1		1	CHD3	17	7802768	Silent	SNP	G	TCGA-CV-7263-01A-11D-2012-08	223390	7802768	73392442	96	53968											
MYH10	4628	broad.mit.edu	37	chr17	8398540	8398540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgcttcttccagaagggtgGagacattatctagctcattc	9	13	9	10	0	3	2	1	0	2	2	5	3	4	2	1	2	2	2	1	2	3	5			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:8398540G>A	ENST00000360416.3	-	31	4109	c.3971C>T	c.(3970-3972)tCc>tTc	p.S1324F	MYH10_ENST00000269243.4_Missense_Mutation_p.S1293F|MYH10_ENST00000396239.1_Missense_Mutation_p.S1314F|MYH10_ENST00000379980.4_Missense_Mutation_p.S1309F	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1293					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CAGAAGGGTGGAGACATTATC	0.413													11	22					0	0	0	0	A	8398540	G	A	8398540	3	1	301	1	0	0	0	0	1	0	0	0	10100	1174	41	2	2104	2	MYH10	17	8398540	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	595772	8398540	72796670	97	53969											
GAS2L2	246176	broad.mit.edu	37	chr17	34077293	34077293	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagcaccacgttcttcaCgttcttgcgcagcaccaagt	10	9	7	15	3	3	0	1	0	2	0	3	0	3	0	2	0	3	5	2	0	1	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:34077293C>A	ENST00000254466.6	-	2	457	c.430G>T	c.(430-432)Gtg>Ttg	p.V144L	GAS2L2_ENST00000587565.1_Missense_Mutation_p.V144L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	144	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACGTTCTTCACGTTCTTGCGC	0.642													34	235					6.29468e-14	2.67949e-13	1	0	A	34077293	C	A	34077293	3	1	301	1	0	0	0	0	1	0	0	0	6296	536	19	3	2232	3	GAS2L2	17	34077293	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	25678753	34077293	47117917	98	53970											
KRT39	390792	broad.mit.edu	37	chr17	39118751	39118751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacctggtttaggtcagcaGaaggggcagcagtcacttca	11	8	13	9	0	3	1	3	0	0	1	3	2	3	1	1	4	3	4	1	4	3	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:39118751G>A	ENST00000355612.2	-	4	808	c.773C>T	c.(772-774)tCt>tTt	p.S258F	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	258	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TAGGTCAGCAGAAGGGGCAGC	0.448													129	256					0	0	0	0	A	39118751	G	A	39118751	3	1	301	1	0	0	0	0	1	0	0	0	8528	942	33	2	718	2	KRT39	17	39118751	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	5041458	39118751	42076459	99	53971											
STAT5B	6777	broad.mit.edu	37	chr17	40359689	40359689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcccaagcggtcggctaggGaccgaatggagaagtctctg	9	7	14	11	3	1	1	0	0	1	1	4	4	2	2	2	4	1	1	2	4	4	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:40359689G>T	ENST00000293328.3	-	16	2132	c.1964C>A	c.(1963-1965)tCc>tAc	p.S655Y		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	655	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GTCGGCTAGGGACCGAATGGA	0.418													13	46					7.03913e-09	2.89846e-08	1	0	T	40359689	G	T	40359689	3	4	301	1	0	0	0	0	1	0	0	0	15359	1174	41	2	415	2	STAT5B	17	40359689	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	1240938	40359689	40835521	100	53972											
CDK5RAP3	80279	broad.mit.edu	37	chr17	46053298	46053298	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggggaaactcaacggtgtaCgagtggaggacagggacaga	13	4	17	7	3	1	1	1	0	0	1	1	6	1	5	0	6	3	1	0	6	3	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:46053298C>T	ENST00000536708.2	+	8	901	c.792C>T	c.(790-792)taC>taT	p.Y264Y	CDK5RAP3_ENST00000338399.4_Silent_p.Y239Y	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	239					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CAACGGTGTACGAGTGGAGGA	0.587													5	53					0	0	0	0	T	46053298	C	T	46053298	2	4	301	1	0	0	0	0	0	0	0	1	3176	547	19	1		1	CDK5RAP3	17	46053298	Silent	SNP	C	TCGA-CV-7263-01A-11D-2012-08	5693609	46053298	35141912	101	53973											
TUBD1	51174	broad.mit.edu	37	chr17	57951968	57951968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccagcccaagtaaatGtggtgtatgccaatgaattc	12	9	12	8	0	0	1	0	1	0	0	1	2	0	2	3	3	2	2	3	3	6	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:57951968G>A	ENST00000325752.3	-	6	1143	c.866C>T	c.(865-867)aCa>aTa	p.T289I	TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.T289I|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000539018.1_Missense_Mutation_p.T73I|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.T289I	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	289					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			CCAAGTAAATGTGGTGTATGC	0.423													31	218					0	0	0	0	A	57951968	G	A	57951968	3	1	301	1	0	0	0	0	1	0	0	0	16858	1377	48	4	511	4	TUBD1	17	57951968	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	11898670	57951968	23243242	102	53974											
SOX9	6662	broad.mit.edu	37	chr17	70120341	70120341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctacaccgaccaccagaactCcagctcctactacagccacg	12	5	5	19	2	0	1	0	0	0	1	2	2	2	1	6	0	6	1	6	0	4	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:70120341C>T	ENST00000245479.2	+	3	1715	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	448					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CACCAGAACTCCAGCTCCTAC	0.637													21	151					0	0	0	0	T	70120341	C	T	70120341	3	4	301	1	0	0	0	0	1	0	0	0	15046	855	30	2	1353	2	SOX9	17	70120341	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	12168373	70120341	11074869	103	53975											
CD300E	342510	broad.mit.edu	37	chr17	72608823	72608823	+	Frame_Shift_Del	DEL	T	T	-																															gaggagcccactgaggcctgTtcacccagaagacagcaccc																										TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:72608823delT	ENST00000392619.1	-	4	703	c.668delA	c.(667-669)acfs	p.N223fs	CD300E_ENST00000426295.2_Frame_Shift_Del_p.N237fs|CD300E_ENST00000328630.3_Frame_Shift_Del_p.N196fs	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	196						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CTGAGGCCTGTTCACCCAGAA	0.632													26	98	---	---	---	---					-	72608823	T	-	72608823	7	5	301	1	0	1	0	1	0	0	0	0	3027	1725	60	0	34	0	CD300E	17	72608823	Frame_Shift_Del	DEL	T	TCGA-CV-7263-01A-11D-2012-08	2488482	72608823	8586387	104	53976											
ENOSF1	55556	broad.mit.edu	37	chr18	683302	683302	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttggctcctcaatccAcaatggcttgaacttggcca	9	10	11	11	0	1	1	1	1	0	0	3	2	3	2	3	5	1	3	3	5	3	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr18:683302A>C	ENST00000319815.6	-	3	1394	c.130T>G	c.(130-132)Tgg>Ggg	p.W44G	ENOSF1_ENST00000580982.1_Missense_Mutation_p.W198G|ENOSF1_ENST00000251101.7_Missense_Mutation_p.W274G|ENOSF1_ENST00000340116.7_Missense_Mutation_p.W295G|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Missense_Mutation_p.W192G			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	274					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TCCTCAATCCACAATGGCTTG	0.532													35	73					0	0	0	0	C	683302	A	C	683302	3	2	301	1	0	0	0	0	1	0	0	0	5163	159	6	5	535	5	ENOSF1	18	683302	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08		683302	77393946	105	53977											
LAMA1	284217	broad.mit.edu	37	chr18	6956637	6956637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaggaagccgctcctactgGaaaagcccggggctctggca	11	5	13	12	2	1	0	0	0	1	0	2	2	2	2	3	5	3	3	3	5	5	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr18:6956637G>A	ENST00000389658.3	-	56	8185	c.8092C>T	c.(8092-8094)Cca>Tca	p.P2698S	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2698					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTCCTACTGGAAAAGCCCGG	0.572													13	77					0	0	0	0	A	6956637	G	A	6956637	3	1	301	1	0	0	0	0	1	0	0	0	8658	1174	41	2	1167	2	LAMA1	18	6956637	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	6273335	6956637	71120611	106	53978											
VPS4B	9525	broad.mit.edu	37	chr18	61074674	61074674	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctaaagcaaccttgaagttGattctgtagtttcttttttt	9	20	6	6	0	3	2	0	2	3	0	3	2	3	2	1	0	2	4	1	0	5	9			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr18:61074674G>A	ENST00000238497.5	-	4	558	c.355C>T	c.(355-357)Caa>Taa	p.Q119*	VPS4B_ENST00000591519.1_Nonsense_Mutation_p.Q119*	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	119					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CCTTGAAGTTGATTCTGTAGT	0.289													5	14					0	0	0	0	A	61074674	G	A	61074674	4	1	301	1	0	0	0	0	0	1	0	0	17309	1299	45	2	1011	2	VPS4B	18	61074674	Nonsense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	54118037	61074674	17002574	107	53979											
RTTN	25914	broad.mit.edu	37	chr18	67687941	67687941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtggtgttctccagtggCatctgggaagccaactttag	8	11	12	10	1	2	0	0	0	2	0	3	1	2	1	3	3	2	2	3	3	3	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr18:67687941C>T	ENST00000255674.6	-	45	6349	c.6063G>A	c.(6061-6063)atG>atA	p.M2021I	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2021							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCTCCAGTGGCATCTGGGAAG	0.468													19	115					0	0	0	0	T	67687941	C	T	67687941	3	4	301	1	0	0	0	0	1	0	0	0	13822	710	25	4	637	4	RTTN	18	67687941	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	6613267	67687941	10389307	108	53980											
EVI5L	115704	broad.mit.edu	37	chr19	7916351	7916351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacctcaacacccacttccGttcccaaagcttccacacat	12	8	3	18	1	1	1	1	0	0	1	4	1	4	1	5	0	2	2	5	0	2	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr19:7916351G>A	ENST00000270530.4	+	7	981	c.785G>A	c.(784-786)cGt>cAt	p.R262H	EVI5L_ENST00000538904.2_Missense_Mutation_p.R262H	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	262	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						ACCCACTTCCGTTCCCAAAGC	0.647													39	81					0	0	0	0	A	7916351	G	A	7916351	3	1	301	1	0	0	0	0	1	0	0	0	5328	1145	40	1	807	1	EVI5L	19	7916351	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08		7916351	51212632	109	53981											
GIPC1	10755	broad.mit.edu	37	chr19	14593541	14593541	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcctcggcgatcttgccaTacagctccttgacgttggtg	6	11	12	12	3	1	1	0	1	1	0	3	2	2	1	3	3	3	2	3	3	1	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr19:14593541T>C	ENST00000393033.4	-	4	517	c.248A>G	c.(247-249)tAt>tGt	p.Y83C	GIPC1_ENST00000345425.2_Missense_Mutation_p.Y83C|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000586027.1_Missense_Mutation_p.Y83C|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000393029.3_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	83					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GATCTTGCCATACAGCTCCTT	0.682													8	26					0	0	0	0	C	14593541	T	C	14593541	3	2	301	1	0	0	0	0	1	0	0	0	6443	1406	49	5	777	5	GIPC1	19	14593541	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08	6677190	14593541	44535442	110	53982											
ZNF331	55422	broad.mit.edu	37	chr19	54080198	54080198	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcagagacatcataaggaGaattcctttgaatgtaagga	16	10	9	6	0	2	3	2	1	0	2	3	6	3	4	1	2	0	1	1	2	4	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr19:54080198G>A	ENST00000253144.9	+	7	1717	c.384G>A	c.(382-384)gaG>gaA	p.E128E	ZNF331_ENST00000513999.1_Silent_p.E128E|ZNF331_ENST00000449416.1_Silent_p.E128E|ZNF331_ENST00000411977.2_Silent_p.E128E|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Silent_p.E128E|ZNF331_ENST00000511593.2_Silent_p.E128E|ZNF331_ENST00000511154.1_Silent_p.E128E	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ATCATAAGGAGAATTCCTTTG	0.418			T	?	follicular thyroid adenoma								41	90					0	0	0	0	A	54080198	G	A	54080198	2	1	301	1	0	0	0	0	0	0	0	1	17944	933	33	2		2	ZNF331	19	54080198	Silent	SNP	G	TCGA-CV-7263-01A-11D-2012-08	39486657	54080198	5048785	111	53983											
BMP2	650	broad.mit.edu	37	chr20	6759194	6759194	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgctgtgatgcggtggActgcacagggacacgccaac	8	5	13	15	3	0	1	0	1	0	0	0	3	0	3	3	3	3	2	3	3	1	0			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr20:6759194A>G	ENST00000378827.4	+	3	1868	c.649A>G	c.(649-651)Act>Gct	p.T217A		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	217					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GATGCGGTGGACTGCACAGGG	0.522													4	49					0	0	0	0	G	6759194	A	G	6759194	3	3	301	1	0	0	0	0	1	0	0	0	1464	275	10	5	655	5	BMP2	20	6759194	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08		6759194	56266326	112	53984											
RIMS4	140730	broad.mit.edu	37	chr20	43385559	43385559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggaggactttgccctgggGactctcaggaaacagcagca	10	7	13	11	0	1	0	1	0	1	0	2	4	1	4	1	5	4	2	1	5	1	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr20:43385559G>A	ENST00000372851.3	-	5	637	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	RIMS4_ENST00000541604.2_Missense_Mutation_p.P192S	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	191	C2.				exocytosis|neurotransmitter transport	cell junction|synapse		p.P191T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TTGCCCTGGGGACTCTCAGGA	0.567													139	217					0	0	0	0	A	43385559	G	A	43385559	3	1	301	1	0	0	0	0	1	0	0	0	13455	1174	41	2	246	2	RIMS4	20	43385559	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08	36626365	43385559	19639961	113	53985											
ZDHHC8	29801	broad.mit.edu	37	chr22	20127348	20127348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacacatggtgggcgtcGtggccttcggcctggtctac	4	10	15	12	3	1	0	0	0	1	0	3	0	1	0	2	5	2	1	2	5	1	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr22:20127348G>A	ENST00000334554.7	+	4	631	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000320602.7_Intron|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.V164M	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	164						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGTGGGCGTCGTGGCCTTCGG	0.602													8	60					0	0	0	0	A	20127348	G	A	20127348	3	1	301	1	0	0	0	0	1	0	0	0	17716	1145	40	1	504	1	ZDHHC8	22	20127348	Missense_Mutation	SNP	G	TCGA-CV-7263-01A-11D-2012-08		20127348	31177218	114	53986											
PIK3IP1	113791	broad.mit.edu	37	chr22	31688261	31688261	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagattgtaatctcacCtccagatccataggcttctg	12	11	8	10	0	2	2	1	0	2	2	5	3	4	3	3	2	0	2	3	2	3	4			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr22:31688261C>T	ENST00000215912.5	-	1	253	c.70_splice	c.e1+1	p.G24_splice	PIK3IP1_ENST00000402249.3_Splice_Site_p.G24_splice|PIK3IP1_ENST00000487265.2_Splice_Site_p.E24_splice|PIK3IP1_ENST00000441972.1_Splice_Site_p.G24_splice	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	24	Kringle.					integral to membrane				large_intestine(2)|lung(1)|ovary(1)	4						GTAATCTCACCTCCAGATCCA	0.502											OREG0026478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	56					0	0	0	0	T	31688261	C	T	31688261	5	4	301	1	0	0	0	0	0	0	1	0	11989	695	24	4	745	4	PIK3IP1	22	31688261	Splice_Site	SNP	C	TCGA-CV-7263-01A-11D-2012-08	11560913	31688261	19616305	115	53987											
C22orf42	150297	broad.mit.edu	37	chr22	32545757	32545757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacagaggtaatcttcatatCtctcctttgcctgcaatagg	10	14	7	10	0	3	1	1	0	2	1	5	1	4	1	2	2	3	2	2	2	5	6			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr22:32545757C>T	ENST00000382097.3	-	8	737	c.665G>A	c.(664-666)aGa>aAa	p.R222K	C22orf42_ENST00000490640.1_5'UTR	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	222										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ATCTTCATATCTCTCCTTTGC	0.338													9	48					0	0	0	0	T	32545757	C	T	32545757	3	4	301	1	0	0	0	0	1	0	0	0	2169	913	32	2	98	2	C22orf42	22	32545757	Missense_Mutation	SNP	C	TCGA-CV-7263-01A-11D-2012-08	857496	32545757	18758809	116	53988											
SELO	83642	broad.mit.edu	37	chr22	50654274	50654274	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaggagctgaggctggccTtccggccccagatggatccc	6	7	15	13	1	0	2	0	1	0	1	2	5	2	5	5	6	1	2	5	6	0	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr22:50654274T>C	ENST00000380903.2	+	6	1538	c.1480T>C	c.(1480-1482)Ttc>Ctc	p.F494L	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					GAGGCTGGCCTTCCGGCCCCA	0.582													19	58					0	0	0	0	C	50654274	T	C	50654274	3	2	301	1	0	0	0	0	1	0	0	0	14105	1609	56	5	1502	5	SELO	22	50654274	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08	18108517	50654274	650292	117	53989											
MAGEB10	139422	broad.mit.edu	37	chrX	27839869	27839869	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatgtccaagagccagtTccctgtaatcctgagcagag	12	8	9	12	0	0	3	0	1	0	2	3	3	3	3	5	0	2	3	5	0	3	2			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chrX:27839869T>A	ENST00000356790.2	+	3	691	c.446T>A	c.(445-447)tTc>tAc	p.F149Y		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	149	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AAGAGCCAGTTCCCTGTAATC	0.438													23	30					0	0	0	0	A	27839869	T	A	27839869	3	1	301	1	0	0	0	0	1	0	0	0	9242	1783	62	5	448	5	MAGEB10	23	27839869	Missense_Mutation	SNP	T	TCGA-CV-7263-01A-11D-2012-08		27839869	127430691	118	53990											
MED12	9968	broad.mit.edu	37	chrX	70350030	70350030	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacaatgaggatggggaaaAcccccagcggcagcgcataa	14	3	14	10	2	0	1	0	1	0	0	0	4	0	4	2	5	3	2	2	5	4	1			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chrX:70350030A>G	ENST00000333646.6	+	28	4212	c.4013A>G	c.(4012-4014)aAc>aGc	p.N1338S	MED12_ENST00000374080.3_Missense_Mutation_p.N1338S|MED12_ENST00000374102.1_Missense_Mutation_p.N1338S|MED12_ENST00000478889.1_Intron	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1338					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GATGGGGAAAACCCCCAGCGG	0.577			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						2	11					0	0	0	0	G	70350030	A	G	70350030	3	3	301	1	0	0	0	0	1	0	0	0	9497	43	2	5	4123	5	MED12	23	70350030	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08	42510161	70350030	84920530	119	53991											
XKRX	402415	broad.mit.edu	37	chrX	100183281	100183281	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctcctcaggaatttcatAaactctgtccattgtcgagg	9	13	9	10	1	3	0	2	0	1	0	6	2	5	1	2	3	1	1	2	3	3	3			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chrX:100183281A>G	ENST00000328526.5	-	1	617	c.52T>C	c.(52-54)Tat>Cat	p.Y18H	XKRX_ENST00000468904.1_Missense_Mutation_p.Y5H|XKRX_ENST00000372956.2_Missense_Mutation_p.Y5H	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	5						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GGAATTTCATAAACTCTGTCC	0.488													72	65					0	0	0	0	G	100183281	A	G	100183281	3	3	301	1	0	0	0	0	1	0	0	0	17535	362	13	5	1348	5	XKRX	23	100183281	Missense_Mutation	SNP	A	TCGA-CV-7263-01A-11D-2012-08	29833251	100183281	55087279	120	53992											
CASZ1	54897	broad.mit.edu	37	chr1	10715845	10715857	+	Frame_Shift_Del	DEL	ATCACGTCCTGCT	ATCACGTCCTGCT	-																															tgtgcatgttgtagtggcggAtcacgtcctgcttactcgtg																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:10715845_10715857delATCACGTCCTGCT	ENST00000377022.3	-	9	1831_1843	c.1514_1526delAGCAGGACGTGAT	c.(1513-1527)acfs	p.KQDVI505fs	CASZ1_ENST00000344008.5_Frame_Shift_Del_p.KQDVI505fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTAGTGGCGGATCACGTCCTGCTTACTCGTGAA	0.629													17	31	---	---	---	---					-	10715857	ATCACGTCCTGCT	-	10715845	7	5	302	1	0	1	0	1	0	0	0	0	2710	333	12	0	3809	0	CASZ1	1	10715845	Frame_Shift_Del	DEL	ATCACGTCCTGCT	TCGA-CV-7406-01A-11D-2078-08		10715845	238534776	1	53993											
MAN1C1	57134	broad.mit.edu	37	chr1	25944551	25944551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaacccggcccccgccgCgccggccccgggcgaggatg	4	2	14	21	7	0	0	0	0	0	0	1	2	1	1	8	4	1	0	8	4	1	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:25944551C>T	ENST00000374332.4	+	1	593	c.263C>T	c.(262-264)gCg>gTg	p.A88V	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	88					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		gcccccgccgcgccggccccg	0.786													4	7					0	0	0	0	T	25944551	C	T	25944551	3	4	302	1	0	0	0	0	1	0	0	0	9282	768	27	1	265	1	MAN1C1	1	25944551	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	15228706	25944551	223306070	2	53994											
MACF1	23499	broad.mit.edu	37	chr1	39801943	39801943	+	Frame_Shift_Del	DEL	A	A	-																															ttgtggaactctcaaatctgAaatagcaacacaggaactaa																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:39801943delA	ENST00000564288.1	+	37	10460	c.9683delA	c.(9682-9684)gafs	p.E3228fs	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Del_p.E3265fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Frame_Shift_Del_p.E3233fs|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Del_p.E1668fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3233					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCAAATCTGAAATAGCAACA	0.398													7	102	---	---	---	---					-	39801943	A	-	39801943	7	5	302	1	0	1	0	1	0	0	0	0	9209	246	9	0	9774	0	MACF1	1	39801943	Frame_Shift_Del	DEL	A	TCGA-CV-7406-01A-11D-2078-08	13857392	39801943	209448678	3	53995											
ZCCHC11	23318	broad.mit.edu	37	chr1	52911973	52911973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggaagtccactgcttctCaaaagttgtcaacagctttt	10	14	7	10	0	2	0	2	0	1	0	4	1	3	1	1	1	3	3	1	1	4	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:52911973C>G	ENST00000371544.3	-	22	3917	c.3655G>C	c.(3655-3657)Gag>Cag	p.E1219Q	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E1219Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1219	PAP-associated 2.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CACTGCTTCTCAAAAGTTGTC	0.393													25	67					0	0	0	0	G	52911973	C	G	52911973	3	3	302	1	0	0	0	0	1	0	0	0	17675	835	29	2	1318	2	ZCCHC11	1	52911973	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	13110030	52911973	196338648	4	53996											
LRRC42	115353	broad.mit.edu	37	chr1	54423865	54423865	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggagattaagtctttcCgggagctgacctgcctggat	8	12	13	8	1	1	3	0	2	1	1	2	6	2	5	3	3	2	1	3	3	1	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:54423865C>A	ENST00000371370.3	+	4	1038	c.517C>A	c.(517-519)Cgg>Agg	p.R173R	LRRC42_ENST00000319223.4_Silent_p.R173R	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	173										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TAAGTCTTTCCGGGAGCTGAC	0.468													8	53					0.000274275	0.000280703	1	0	A	54423865	C	A	54423865	2	1	302	1	0	0	0	0	0	0	0	1	9064	643	23	3		3	LRRC42	1	54423865	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	1511892	54423865	194826756	5	53997											
CLCA2	9635	broad.mit.edu	37	chr1	86919185	86919185	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggcccccaccctgatgtGtttccaccatgcaaaattat	9	11	7	14	0	0	1	0	1	0	0	1	1	1	1	5	1	1	3	5	1	3	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:86919185G>T	ENST00000370565.4	+	13	2451	c.2289G>T	c.(2287-2289)gtG>gtT	p.V763V	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	763					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACCCTGATGTGTTTCCACCAT	0.517													22	61					1.10513e-12	1.17225e-12	1	0	T	86919185	G	T	86919185	2	4	302	1	0	0	0	0	0	0	0	1	3488	1364	48	4		4	CLCA2	1	86919185	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	32495320	86919185	162331436	6	53998											
GBP1	2633	broad.mit.edu	37	chr1	89525943	89525943	+	Missense_Mutation	SNP	G	G	T																															atgtggcctggcttcttgggGtggggcacacaccacatcca																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:89525943G>T	ENST00000370473.4	-	3	474	c.255C>A	c.(253-255)caC>caA	p.H85Q		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	85					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GCTTCTTGGGGTGGGGCACAC	0.562													11	93					2.48551e-13	2.65797e-13	1	0	T	89525943	G	T	89525943	3	4	302	1	0	0	0	0	1	0	0	0	6322	1252	44	4	1559	4	GBP1	1	89525943	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	2606758	89525943	159724678	7	53999	433	2									
GBP1	2633	broad.mit.edu	37	chr1	89525944	89525944	+	Missense_Mutation	SNP	T	T	G																															tgtggcctggcttcttggggTggggcacacaccacatccag																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:89525944T>G	ENST00000370473.4	-	3	473	c.254A>C	c.(253-255)cAc>cCc	p.H85P		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	85					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTTCTTGGGGTGGGGCACACA	0.562													11	92					0	0	0	0	G	89525944	T	G	89525944	3	3	302	1	0	0	0	0	1	0	0	0	6322	1696	59	5	1560	5	GBP1	1	89525944	Missense_Mutation	SNP	T	TCGA-CV-7406-01A-11D-2078-08	1	89525944	159724677	8	54000	433	2									
COPA	1314	broad.mit.edu	37	chr1	160303419	160303419	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggttctagattgccagttCcacactcggatggtctgatc	8	12	10	11	1	2	2	0	1	2	1	5	3	3	3	2	3	1	2	2	3	1	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:160303419C>T	ENST00000241704.7	-	5	589	c.360G>A	c.(358-360)tgG>tgA	p.W120*	COPA_ENST00000368069.3_Nonsense_Mutation_p.W120*	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	120					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTGCCAGTTCCACACTCGGA	0.413													22	44					0	0	0	0	T	160303419	C	T	160303419	4	4	302	1	0	0	0	0	0	1	0	0	3757	856	30	2	3457	2	COPA	1	160303419	Nonsense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	70777475	160303419	88947202	9	54001											
F5	2153	broad.mit.edu	37	chr1	169525915	169525915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggggtgagagaagatatGatccactttccctctgggcc	8	12	12	9	0	1	4	0	2	1	2	3	5	3	4	3	3	0	0	3	3	2	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:169525915G>A	ENST00000367796.3	-	6	1122	c.921C>T	c.(919-921)atC>atT	p.I307I	F5_ENST00000546081.1_Silent_p.I170I|F5_ENST00000367797.3_Silent_p.I307I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	307	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAGAAGATATGATCCACTTTC	0.483													11	50					0	0	0	0	A	169525915	G	A	169525915	2	1	302	1	0	0	0	0	0	0	0	1	5386	1280	45	2		2	F5	1	169525915	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	9222496	169525915	79724706	10	54002											
TOR3A	64222	broad.mit.edu	37	chr1	179063234	179063234	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtctctttcagtaatctCaggggcgatataatcaatga	11	14	8	8	1	4	1	3	1	2	0	6	2	4	1	0	2	0	1	0	2	4	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:179063234C>T	ENST00000367627.3	+	5	1577	c.825C>T	c.(823-825)ctC>ctT	p.L275L	TOR3A_ENST00000352445.6_Silent_p.L275L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	275					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCAGTAATCTCAGGGGCGATA	0.463													17	71					0	0	0	0	T	179063234	C	T	179063234	2	4	302	1	0	0	0	0	0	0	0	1	16471	813	29	2		2	TOR3A	1	179063234	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	9537319	179063234	70187387	11	54003											
DHX9	1660	broad.mit.edu	37	chr1	182835672	182835672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggctacagcgttcgatttGagtctatacttcctcgtcct	6	15	9	11	3	1	1	0	1	1	0	5	2	3	1	2	1	3	2	2	1	3	6			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:182835672G>A	ENST00000367549.3	+	13	1536	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	476	Helicase ATP-binding.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CGTTCGATTTGAGTCTATACT	0.428													57	151					0	0	0	0	A	182835672	G	A	182835672	3	1	302	1	0	0	0	0	1	0	0	0	4553	1291	45	2	1472	2	DHX9	1	182835672	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	3772438	182835672	66414949	12	54004											
B3GALNT2	148789	broad.mit.edu	37	chr1	235634193	235634193	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagaactccccctccatCattcactgtcactttgtgga	8	13	6	14	0	4	1	3	1	1	1	6	3	6	2	3	1	1	0	3	1	1	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:235634193C>A	ENST00000366600.3	-	6	961	c.733G>T	c.(733-735)Gat>Tat	p.D245Y	B3GALNT2_ENST00000478199.1_5'UTR|B3GALNT2_ENST00000313984.3_Missense_Mutation_p.D286Y	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	245					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CCCCCTCCATCATTCACTGTC	0.358													29	74					2.46105e-21	2.66444e-21	1	0	A	235634193	C	A	235634193	3	1	302	1	0	0	0	0	1	0	0	0	1250	826	29	2	797	2	B3GALNT2	1	235634193	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	52798521	235634193	13616428	13	54005											
SCCPDH	51097	broad.mit.edu	37	chr1	246927581	246927581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattcacgctgacattctttGgtcaaggatacagccaaggc	11	10	9	11	1	3	1	2	1	1	0	3	2	3	2	1	3	2	1	1	3	3	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:246927581G>A	ENST00000366510.3	+	10	1400	c.1024G>A	c.(1024-1026)Ggt>Agt	p.G342S		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	342						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GACATTCTTTGGTCAAGGATA	0.408													22	64					0	0	0	0	A	246927581	G	A	246927581	3	1	302	1	0	0	0	0	1	0	0	0	13971	1348	47	4	1062	4	SCCPDH	1	246927581	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	11293388	246927581	2323040	14	54006											
OR11L1	391189	broad.mit.edu	37	chr1	248005106	248005106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcaggcagtagatgagcagGaaaatgacaaagagcagggc	16	4	15	6	0	1	4	1	2	0	2	1	5	1	5	0	3	2	4	0	3	4	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:248005106G>T	ENST00000355784.2	-	1	148	c.93C>A	c.(91-93)ttC>ttA	p.F31L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGATGAGCAGGAAAATGACAA	0.507													11	36					5.50884e-06	5.68234e-06	1	0	T	248005106	G	T	248005106	3	4	302	1	0	0	0	0	1	0	0	0	11001	1165	41	2	879	2	OR11L1	1	248005106	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1077525	248005106	1245515	15	54007											
PGBD2	267002	broad.mit.edu	37	chr1	249211968	249211968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaactgaaaaaaatgaagagGggttcatttgattacaaagt	18	10	10	3	0	1	4	1	3	0	1	1	5	1	4	0	2	2	1	0	2	7	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:249211968G>T	ENST00000355360.4	+	3	702	c.432G>T	c.(430-432)agG>agT	p.R144S	PGBD2_ENST00000539153.1_Missense_Mutation_p.R392S|PGBD2_ENST00000329291.5_Missense_Mutation_p.R395S	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	395										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAATGAAGAGGGGTTCATTTG	0.478													21	49					4.35082e-09	4.55966e-09	1	0	T	249211968	G	T	249211968	3	4	302	1	0	0	0	0	1	0	0	0	11853	1223	43	4	1191	4	PGBD2	1	249211968	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1206862	249211968	38653	16	54008											
CLEC4F	165530	broad.mit.edu	37	chr2	71046980	71046980	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggtagcctgaacgagcctCggtatcttgggggctgcagg	6	8	18	9	2	1	1	0	1	1	0	2	2	1	1	2	6	4	4	2	6	3	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:71046980C>T	ENST00000272367.2	-	2	181	c.105G>A	c.(103-105)ccG>ccA	p.P35P	CLEC4F_ENST00000426626.1_Silent_p.P35P	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	35					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GAACGAGCCTCGGTATCTTGG	0.567													12	30					0	0	0	0	T	71046980	C	T	71046980	2	4	302	1	0	0	0	0	0	0	0	1	3546	871	31	1		1	CLEC4F	2	71046980	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08		71046980	172152393	17	54009											
PCGF1	84759	broad.mit.edu	37	chr2	74734013	74734013	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatacaactcttgcagacTgcaggaaaagaaaagcagat	19	6	8	8	0	1	3	0	0	1	3	1	4	1	4	0	1	5	3	0	1	7	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:74734013T>C	ENST00000233630.6	-	3	1111		c.e3-2		PCGF1_ENST00000480844.2_Splice_Site	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TCTTGCAGACTGCAGGAAAAG	0.527													18	49					0	0	0	0	C	74734013	T	C	74734013	5	2	302	1	0	0	0	0	0	0	1	0	11645	1594	55	5	609	5	PCGF1	2	74734013	Splice_Site	SNP	T	TCGA-CV-7406-01A-11D-2078-08	3687033	74734013	168465360	18	54010											
CTNNA2	1496	broad.mit.edu	37	chr2	79878679	79878679	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attacatgtgttcccataggGagcatgacttcggcaacttc	10	12	9	10	1	0	1	0	1	0	0	3	2	1	2	1	2	3	3	1	2	3	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:79878679G>A	ENST00000361291.4	+	2	99	c.97_splice	c.e2-1	p.G33_splice	CTNNA2_ENST00000409266.1_5'UTR|CTNNA2_ENST00000466387.1_5'UTR|CTNNA2_ENST00000402739.4_5'UTR|CTNNA2_ENST00000496558.1_5'UTR			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	0					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTCCCATAGGGAGCATGACTT	0.388													19	40					0	0	0	0	A	79878679	G	A	79878679	5	1	302	1	0	0	0	0	0	0	1	0	4045	1188	41	2		2	CTNNA2	2	79878679	Splice_Site	SNP	G	TCGA-CV-7406-01A-11D-2078-08	5144666	79878679	163320694	19	54011											
LRRTM1	347730	broad.mit.edu	37	chr2	80530936	80530936	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agacagagaccgagcagcagGaaatccattagcgagaatct	16	5	11	9	2	1	3	0	0	1	3	2	7	2	4	2	1	3	2	2	1	3	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:80530936G>A	ENST00000295057.3	-	2	665	c.9C>T	c.(7-9)ttC>ttT	p.F3F	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.F3F|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	3						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGAGCAGCAGGAAATCCATTA	0.557										HNSCC(69;0.2)			11	42					0	0	0	0	A	80530936	G	A	80530936	2	1	302	1	0	0	0	0	0	0	0	1	9103	1165	41	2		2	LRRTM1	2	80530936	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	652257	80530936	162668437	20	54012											
NCKAP5	344148	broad.mit.edu	37	chr2	133543004	133543004	+	Frame_Shift_Del	DEL	G	G	-																															gtcttgtggggttccttgcaGgggctccccaggtcagctgt																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:133543004delG	ENST00000409261.1	-	14	1753	c.1380delC	c.(1378-1380)ccfs	p.P460fs	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P460fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	460							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTCCTTGCAGGGGCTCCCCA	0.478													14	49	---	---	---	---					-	133543004	G	-	133543004	7	5	302	1	0	1	0	1	0	0	0	0	10293	987	35	0	4377	0	NCKAP5	2	133543004	Frame_Shift_Del	DEL	G	TCGA-CV-7406-01A-11D-2078-08	53012068	133543004	109656369	21	54013											
GALNT5	11227	broad.mit.edu	37	chr2	158115183	158115183	+	Frame_Shift_Del	DEL	C	C	-																															gtgtcagtttaaaacaggagCcccggaagagtcatagtccc																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:158115183delC	ENST00000259056.4	+	1	1074	c.589delC	c.(589-591)ccfs	p.P197fs		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	197					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAAACAGGAGCCCCGGAAGAG	0.473													11	36	---	---	---	---					-	158115183	C	-	158115183	7	5	302	1	0	1	0	1	0	0	0	0	6265	739	26	0	591	0	GALNT5	2	158115183	Frame_Shift_Del	DEL	C	TCGA-CV-7406-01A-11D-2078-08	24572179	158115183	85084190	22	54014											
GALNT5	11227	broad.mit.edu	37	chr2	158115563	158115563	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctgaaagccatcttgtGattataaccaaagaggaaga	15	11	8	7	0	2	4	0	2	2	2	3	5	2	5	2	1	2	0	2	1	5	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:158115563G>C	ENST00000259056.4	+	1	1454	c.969G>C	c.(967-969)gtG>gtC	p.V323V		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	323					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCCATCTTGTGATTATAACCA	0.388													27	72					0	0	0	0	C	158115563	G	C	158115563	2	2	302	1	0	0	0	0	0	0	0	1	6265	1277	45	2		2	GALNT5	2	158115563	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	380	158115563	85083810	23	54015											
TTN	7273	broad.mit.edu	37	chr2	179449657	179449657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaagcatcagcgtctatatCagaaatgtcaaatggaggct	14	9	10	8	1	4	1	3	0	1	1	4	2	4	2	0	2	2	3	0	2	5	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:179449657C>T	ENST00000589042.1	-	310	64935	c.64711G>A	c.(64711-64713)Gat>Aat	p.D21571N	TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D12506N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D12631N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19003N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D12698N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D19930N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19930	Fibronectin type-III 56.						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)			GCGTCTATATCAGAAATGTCA	0.458													24	39					0	0	0	0	T	179449657	C	T	179449657	3	4	302	1	0	0	0	0	1	0	0	0	16831	826	29	2	43480	2	TTN	2	179449657	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	21334094	179449657	63749716	24	54016											
FSIP2	401024	broad.mit.edu	37	chr2	186672489	186672489	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgaaaacatcgttgaaaaGatccttaaagatgttttcca	15	13	7	6	1	0	4	0	2	0	2	3	4	2	4	2	0	1	3	2	0	6	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:186672489G>A	ENST00000343098.5	+	17	18723	c.18723G>A	c.(18721-18723)aaG>aaA	p.K6241K	FSIP2_ENST00000424728.1_Silent_p.K6152K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCGTTGAAAAGATCCTTAAAG	0.393													16	38					0	0	0	0	A	186672489	G	A	186672489	2	1	302	1	0	0	0	0	0	0	0	1	6123	933	33	2		2	FSIP2	2	186672489	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	7222832	186672489	56526884	25	54017											
STAT1	6772	broad.mit.edu	37	chr2	191874723	191874723	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgaagttcgtaccactGagacatcctatagggaaaaa	14	9	9	9	1	0	2	0	2	0	1	2	4	1	3	2	1	2	3	2	1	6	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:191874723G>A	ENST00000361099.3	-	3	394	c.7C>T	c.(7-9)Cag>Tag	p.Q3*	STAT1_ENST00000540176.1_Nonsense_Mutation_p.Q3*|STAT1_ENST00000409465.1_Nonsense_Mutation_p.Q3*|STAT1_ENST00000392322.3_Nonsense_Mutation_p.Q3*|STAT1_ENST00000392323.2_Nonsense_Mutation_p.Q5*	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	3					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TCGTACCACTGAGACATCCTA	0.403													18	22					0	0	0	0	A	191874723	G	A	191874723	4	1	302	1	0	0	0	0	0	1	0	0	15354	1299	45	2	2341	2	STAT1	2	191874723	Nonsense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	5202234	191874723	51324650	26	54018											
ALS2CR12	130540	broad.mit.edu	37	chr2	202173910	202173910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttctcgctcgaacttctCatccttcttccatttcgcct	5	18	3	15	3	3	0	1	0	3	0	9	1	5	0	3	0	1	1	3	0	1	6			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:202173910C>T	ENST00000405148.2	-	10	1182	c.739G>A	c.(739-741)Gag>Aag	p.E247K	ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.E247K|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.E247K|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.E247K	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	247					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TCGAACTTCTCATCCTTCTTC	0.408													43	64					0	0	0	0	T	202173910	C	T	202173910	3	4	302	1	0	0	0	0	1	0	0	0	553	835	29	2	622	2	ALS2CR12	2	202173910	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	10299187	202173910	41025463	27	54019											
NBEAL1	65065	broad.mit.edu	37	chr2	204009620	204009620	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaatggcaagtttacattGaaaaatatgtaagttttatc	16	15	7	3	0	0	2	0	2	0	0	1	2	0	2	0	1	1	4	0	1	8	7			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:204009620G>C	ENST00000449802.1	+	31	5392	c.5059G>C	c.(5059-5061)Gaa>Caa	p.E1687Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1687							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTTTACATTGAAAAATATGT	0.259													6	8					0	0	0	0	C	204009620	G	C	204009620	3	2	302	1	0	0	0	0	1	0	0	0	10258	1291	45	2	5177	2	NBEAL1	2	204009620	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1835710	204009620	39189753	28	54020											
SLC6A1	6529	broad.mit.edu	37	chr3	11059596	11059596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactcttcctgctggagtgCtccctgggccagtacacctc	5	10	9	17	0	1	0	0	0	1	0	4	1	3	1	5	2	3	3	5	2	1	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:11059596C>T	ENST00000287766.4	+	4	727	c.306C>T	c.(304-306)tgC>tgT	p.C102C	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	102					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TGCTGGAGTGCTCCCTGGGCC	0.592													43	91					0	0	0	0	T	11059596	C	T	11059596	2	4	302	1	0	0	0	0	0	0	0	1	14761	805	28	4		4	SLC6A1	3	11059596	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08		11059596	186962834	29	54021											
HACL1	26061	broad.mit.edu	37	chr3	15613185	15613185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgattttaccttggatgcaGcttcattgctcttcattttt	6	19	6	10	1	3	0	2	0	1	0	3	2	3	1	2	1	4	3	2	1	1	8			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:15613185G>A	ENST00000321169.5	-	12	1452	c.1085C>T	c.(1084-1086)gCt>gTt	p.A362V	HACL1_ENST00000451445.2_Missense_Mutation_p.A280V|HACL1_ENST00000456194.2_Missense_Mutation_p.A335V|HACL1_ENST00000435217.2_Missense_Mutation_p.A121V|HACL1_ENST00000457447.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	362					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTTGGATGCAGCTTCATTGCT	0.408													15	76					0	0	0	0	A	15613185	G	A	15613185	3	1	302	1	0	0	0	0	1	0	0	0	6991	971	34	4	675	4	HACL1	3	15613185	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	4553589	15613185	182409245	30	54022											
KCNH8	131096	broad.mit.edu	37	chr3	19492809	19492809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgggggagtatctgctgCgtcaaggggatgctttgcag	6	10	16	9	2	2	0	1	0	1	0	3	2	3	2	1	4	4	4	1	4	2	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:19492809C>T	ENST00000328405.2	+	10	2004	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	580						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTATCTGCTGCGTCAAGGGGA	0.507													29	59					0	0	0	0	T	19492809	C	T	19492809	3	4	302	1	0	0	0	0	1	0	0	0	8091	768	27	1	1776	1	KCNH8	3	19492809	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	3879624	19492809	178529621	31	54023											
CCR3	1232	broad.mit.edu	37	chr3	46307508	46307508	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctggtcatgctggtgacaGaggtgatcgcctactcccac	8	9	11	13	1	1	3	1	2	0	1	3	3	2	3	3	3	2	1	3	3	1	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:46307508G>C	ENST00000357422.2	+	4	1402	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	CCR3_ENST00000395942.2_Missense_Mutation_p.E287Q|CCR3_ENST00000395940.2_Missense_Mutation_p.E287Q|CCR3_ENST00000541018.1_Missense_Mutation_p.E287Q|CCR3_ENST00000545097.1_Missense_Mutation_p.E308Q			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	287					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GCTGGTGACAGAGGTGATCGC	0.517													22	27					0	0	0	0	C	46307508	G	C	46307508	3	2	302	1	0	0	0	0	1	0	0	0	2971	943	33	2	928	2	CCR3	3	46307508	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	26814699	46307508	151714922	32	54024											
CELSR3	1951	broad.mit.edu	37	chr3	48689469	48689469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccagagggtgtggagcCgagccacaccccctgtggac	8	4	16	13	1	0	1	0	0	0	1	0	5	0	4	5	4	3	0	5	4	0	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:48689469C>T	ENST00000544264.1	-	12	6044	c.5764G>A	c.(5764-5766)Ggc>Agc	p.G1922S	CELSR3_ENST00000164024.4_Missense_Mutation_p.G1922S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1922	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTGTGGAGCCGAGCCACACC	0.647													3	28					0	0	0	0	T	48689469	C	T	48689469	3	4	302	1	0	0	0	0	1	0	0	0	3252	652	23	1	4270	1	CELSR3	3	48689469	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	2381961	48689469	149332961	33	54025											
BSN	8927	broad.mit.edu	37	chr3	49694791	49694791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgctacctcttgagtcggcGacgccgggcacggcggagtg	5	6	16	14	7	1	1	0	1	1	0	2	3	1	2	3	4	1	2	3	4	1	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:49694791G>A	ENST00000296452.4	+	5	7916	c.7802G>A	c.(7801-7803)cGa>cAa	p.R2601Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2601	Poly-Arg.				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTGAGTCGGCGACGCCGGGCA	0.647													14	32					0	0	0	0	A	49694791	G	A	49694791	3	1	302	1	0	0	0	0	1	0	0	0	1538	1058	37	1	7820	1	BSN	3	49694791	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1005322	49694791	148327639	34	54026											
CAMKV	79012	broad.mit.edu	37	chr3	49898901	49898907	+	Frame_Shift_Del	DEL	AGTGCAA	AGTGCAA	-																															cctgtgcacgatcttgagtgAgtgcaaataggccacggcct																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:49898901_49898907delAGTGCAA	ENST00000477224.1	-	5	884_890	c.406_412delTTGCACT	c.(406-414)cafs	p.LHS136fs	CAMKV_ENST00000467248.1_Frame_Shift_Del_p.LHS61fs|CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000466940.1_Intron|CAMKV_ENST00000296471.7_Frame_Shift_Del_p.LHS136fs|CAMKV_ENST00000463537.1_Frame_Shift_Del_p.LHS136fs|CAMKV_ENST00000488336.1_Frame_Shift_Del_p.LHS136fs			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	136	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ATCTTGAGTGAGTGCAAATAGGCCACG	0.609													7	47	---	---	---	---					-	49898907	AGTGCAA	-	49898901	7	5	302	1	0	1	0	1	0	0	0	0	2633	304	11	0	1121	0	CAMKV	3	49898901	Frame_Shift_Del	DEL	AGTGCAA	TCGA-CV-7406-01A-11D-2078-08	204110	49898901	148123529	35	54027											
DOCK3	1795	broad.mit.edu	37	chr3	51411927	51411927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgccagataagtaccGccatgcccgtgaaatgatgt	10	10	9	12	2	1	3	0	2	1	1	2	3	1	3	4	0	3	1	4	0	3	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:51411927G>A	ENST00000266037.9	+	50	5344	c.5321G>A	c.(5320-5322)cGc>cAc	p.R1774H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1774						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GATAAGTACCGCCATGCCCGT	0.537													4	11					0	0	0	0	A	51411927	G	A	51411927	3	1	302	1	0	0	0	0	1	0	0	0	4724	1087	38	1	5519	1	DOCK3	3	51411927	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1513026	51411927	146610503	36	54028											
OR5H14	403273	broad.mit.edu	37	chr3	97868899	97868899	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttacatatttgtcctctatAcaatcttgaaaaagaagtct	14	15	4	8	0	3	2	0	1	3	1	4	2	4	2	1	0	2	0	1	0	8	6			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:97868899A>G	ENST00000437310.1	+	1	730	c.670A>G	c.(670-672)Aca>Gca	p.T224A		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTCCTCTATACAATCTTGAA	0.358													12	37					0	0	0	0	G	97868899	A	G	97868899	3	3	302	1	0	0	0	0	1	0	0	0	11231	391	14	5	672	5	OR5H14	3	97868899	Missense_Mutation	SNP	A	TCGA-CV-7406-01A-11D-2078-08	46456972	97868899	100153531	37	54029											
IMPG2	50939	broad.mit.edu	37	chr3	100995541	100995541	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtatcaccaacaggaactgGagaagacagttcagagctag	16	6	11	8	0	2	3	2	0	0	3	2	5	2	4	1	2	3	3	1	2	5	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:100995541G>C	ENST00000193391.7	-	5	737	c.550C>G	c.(550-552)Cca>Gca	p.P184A		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	184					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACAGGAACTGGAGAAGACAGT	0.333													4	18					0	0	0	0	C	100995541	G	C	100995541	3	2	302	1	0	0	0	0	1	0	0	0	7782	1174	41	2	3235	2	IMPG2	3	100995541	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	3126642	100995541	97026889	38	54030											
NFKBIZ	64332	broad.mit.edu	37	chr3	101571040	101571040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagtcataaacagaaggCttctggccaagctgtggatg	12	8	12	9	1	2	1	1	0	1	1	2	3	2	2	2	3	2	2	2	3	5	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:101571040C>A	ENST00000326172.5	+	2	516	c.401C>A	c.(400-402)gCt>gAt	p.A134D	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.A134D|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.A34D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AAACAGAAGGCTTCTGGCCAA	0.468													12	170					0.010729	0.0108116	1	0	A	101571040	C	A	101571040	3	1	302	1	0	0	0	0	1	0	0	0	10453	797	28	4	407	4	NFKBIZ	3	101571040	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	575499	101571040	96451390	39	54031											
NR1I2	8856	broad.mit.edu	37	chr3	119528935	119528935	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaaacgcaacgcccggctGaggtgccccttccggaaggg	9	5	14	13	4	0	2	0	2	0	0	1	3	1	3	4	4	3	2	4	4	3	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:119528935G>A	ENST00000393716.2	+	3	2064	c.225G>A	c.(223-225)ctG>ctA	p.L75L	NR1I2_ENST00000466380.1_Silent_p.L75L|NR1I2_ENST00000337940.4_Silent_p.L114L	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	75					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	ACGCCCGGCTGAGGTGCCCCT	0.697													10	58					0	0	0	0	A	119528935	G	A	119528935	2	1	302	1	0	0	0	0	0	0	0	1	10691	1277	45	2		2	NR1I2	3	119528935	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	17957895	119528935	78493495	40	54032											
GOLGB1	2804	broad.mit.edu	37	chr3	121448138	121448138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaagttaatttggccttcGcatgaagttttagtttttta	11	18	8	4	1	0	2	0	1	0	1	1	2	0	2	1	1	0	4	1	1	6	8			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:121448138G>A	ENST00000393667.3	-	4	409	c.299C>T	c.(298-300)gCg>gTg	p.A100V	GOLGB1_ENST00000472829.1_5'UTR|GOLGB1_ENST00000340645.5_Missense_Mutation_p.A100V	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	100					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTGGCCTTCGCATGAAGTTT	0.363													20	115					0	0	0	0	A	121448138	G	A	121448138	3	1	302	1	0	0	0	0	1	0	0	0	6613	1087	38	1	9556	1	GOLGB1	3	121448138	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1919203	121448138	76574292	41	54033											
PLXNA1	5361	broad.mit.edu	37	chr3	126735460	126735460	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgcccagctcaccaaccctGaggtgaagtacaactacacc	12	5	8	16	1	1	2	1	2	0	0	1	2	1	2	4	1	5	2	4	1	5	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:126735460G>C	ENST00000393409.2	+	15	3115	c.3115G>C	c.(3115-3117)Gag>Cag	p.E1039Q	PLXNA1_ENST00000251772.4_Missense_Mutation_p.E1016Q	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1039	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CACCAACCCTGAGGTGAAGTA	0.622													21	107					0	0	0	0	C	126735460	G	C	126735460	3	2	302	1	0	0	0	0	1	0	0	0	12191	1291	45	2	3173	2	PLXNA1	3	126735460	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	5287322	126735460	71286970	42	54034											
KBTBD12	166348	broad.mit.edu	37	chr3	127642957	127642957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctctagacaaaagaacaaGaatgttgaaatttataggtt	17	12	7	5	0	1	4	0	1	1	3	2	4	1	4	0	1	1	2	0	1	9	6			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:127642957G>A	ENST00000405109.1	+	2	1520	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Silent_p.K351K|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	351										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AAAAGAACAAGAATGTTGAAA	0.348													18	87					0	0	0	0	A	127642957	G	A	127642957	2	1	302	1	0	0	0	0	0	0	0	1	8044	933	33	2		2	KBTBD12	3	127642957	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	907497	127642957	70379473	43	54035											
DZIP1L	199221	broad.mit.edu	37	chr3	137816636	137816636	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgcctgcatgcctgcgctgGatgtggccccggagaaaggt	7	7	15	12	3	0	1	0	0	0	1	0	3	0	2	4	4	3	2	4	4	1	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:137816636G>T	ENST00000327532.2	-	3	917	c.555C>A	c.(553-555)atC>atA	p.I185I	DZIP1L_ENST00000469243.1_Silent_p.I185I	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	185						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						gcctgcgctggatgtggcccc	0.577											OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	30					0.27861	0.27861	1	0	T	137816636	G	T	137816636	2	4	302	1	0	0	0	0	0	0	0	1	4900	1164	41	2		2	DZIP1L	3	137816636	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	10173679	137816636	60205794	44	54036											
ARMC8	25852	broad.mit.edu	37	chr3	137956364	137956364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccacagatttttgtgaaGatgttacagagggataagcc	13	12	10	6	0	0	4	0	1	0	3	0	5	0	5	2	1	3	1	2	1	4	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:137956364G>T	ENST00000469044.1	+	9	997	c.726G>T	c.(724-726)aaG>aaT	p.K242N	ARMC8_ENST00000358441.2_Missense_Mutation_p.K228N|ARMC8_ENST00000491704.1_Missense_Mutation_p.K200N|ARMC8_ENST00000485396.1_Missense_Mutation_p.K169N|ARMC8_ENST00000538260.1_Missense_Mutation_p.K211N|ARMC8_ENST00000489213.1_Missense_Mutation_p.K200N|ARMC8_ENST00000461822.1_Missense_Mutation_p.K242N|ARMC8_ENST00000481646.1_Missense_Mutation_p.K228N|ARMC8_ENST00000470821.1_Missense_Mutation_p.K242N|ARMC8_ENST00000471453.1_Missense_Mutation_p.K228N|ARMC8_ENST00000393058.3_Missense_Mutation_p.K232N	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	242							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TTTTTGTGAAGATGTTACAGA	0.328													11	66					0.00400662	0.00408457	1	0	T	137956364	G	T	137956364	3	4	302	1	0	0	0	0	1	0	0	0	961	933	33	2	718	2	ARMC8	3	137956364	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	139728	137956364	60066066	45	54037											
RASA2	5922	broad.mit.edu	37	chr3	141328818	141328818	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaacaacctttaagacaaTtcagcaaataaaaagcataa	21	9	4	7	0	1	1	1	0	0	1	1	1	1	1	1	0	4	3	1	0	9	6			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:141328818T>G	ENST00000286364.3	+	23	2464	c.2429T>G	c.(2428-2430)aTt>aGt	p.I810S	RASA2_ENST00000452898.1_Missense_Mutation_p.I811S			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	810					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TTTAAGACAATTCAGCAAATA	0.363													20	86					0	0	0	0	G	141328818	T	G	141328818	3	3	302	1	0	0	0	0	1	0	0	0	13143	1493	52	5	2519	5	RASA2	3	141328818	Missense_Mutation	SNP	T	TCGA-CV-7406-01A-11D-2078-08	3372454	141328818	56693612	46	54038											
PCOLCE2	26577	broad.mit.edu	37	chr3	142607677	142607677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctggggactgctgccgcGagagctgggtggcggcagcc	4	7	18	12	3	1	1	0	0	1	1	2	3	1	2	2	5	4	3	2	5	0	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:142607677G>A	ENST00000295992.3	-	1	368	c.62C>T	c.(61-63)tCg>tTg	p.S21L	PCOLCE2_ENST00000461818.1_5'UTR|PCOLCE2_ENST00000485766.1_Missense_Mutation_p.S21L	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	21						extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTGCTGCCGCGAGAGCTGGGT	0.692													3	14					0	0	0	0	A	142607677	G	A	142607677	3	1	302	1	0	0	0	0	1	0	0	0	11666	1059	37	1	1221	1	PCOLCE2	3	142607677	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1278859	142607677	55414753	47	54039											
CP	1356	broad.mit.edu	37	chr3	148905959	148905959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attctcatcaaatactgtagGaaacaaatagaattccttgt	16	13	5	7	0	2	1	2	0	1	1	4	2	3	2	1	1	2	1	1	1	7	6			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:148905959G>A	ENST00000264613.6	-	10	2006	c.1744C>T	c.(1744-1746)Cct>Tct	p.P582S	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	582	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AATACTGTAGGAAACAAATAG	0.343													22	82					0	0	0	0	A	148905959	G	A	148905959	3	1	302	1	0	0	0	0	1	0	0	0	3817	1174	41	2	1493	2	CP	3	148905959	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	6298282	148905959	49116471	48	54040											
SLC33A1	9197	broad.mit.edu	37	chr3	155560316	155560316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgtgatcccttgtgtttCttcttttactactgatactt	6	21	5	9	0	3	2	0	2	3	0	4	2	4	2	1	0	3	1	1	0	3	8			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:155560316C>T	ENST00000392845.2	-	2	1248	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	SLC33A1_ENST00000359479.3_Missense_Mutation_p.E290K	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	290					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTTGTGTTTCTTCTTTTACT	0.338													6	46					0	0	0	0	T	155560316	C	T	155560316	3	4	302	1	0	0	0	0	1	0	0	0	14654	922	32	2	801	2	SLC33A1	3	155560316	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	6654357	155560316	42462114	49	54041											
ZBBX	79740	broad.mit.edu	37	chr3	167033577	167033577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctaatttaactttgtaaGgcacaatattttctgcttct	11	17	5	8	0	2	0	0	0	2	0	2	0	2	0	0	1	3	4	0	1	5	9			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:167033577G>C	ENST00000392766.2	-	15	1575	c.1235C>G	c.(1234-1236)cCt>cGt	p.P412R	ZBBX_ENST00000455345.2_Missense_Mutation_p.P412R|ZBBX_ENST00000307529.5_Missense_Mutation_p.P412R|ZBBX_ENST00000392767.2_Missense_Mutation_p.P412R|ZBBX_ENST00000392764.1_Missense_Mutation_p.P383R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	412						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AACTTTGTAAGGCACAATATT	0.303													10	41					0	0	0	0	C	167033577	G	C	167033577	3	2	302	1	0	0	0	0	1	0	0	0	17612	1000	35	4	1195	4	ZBBX	3	167033577	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	11473261	167033577	30988853	50	54042											
TNIK	23043	broad.mit.edu	37	chr3	170784400	170784409	+	Frame_Shift_Del	DEL	ACATCCTTAG	ACATCCTTAG	-																															tttctccccattggagcaccAcatccttagttatccggcca																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:170784400_170784409delACATCCTTAG	ENST00000436636.2	-	31	4159_4168	c.3815_3824delCTAAGGATGT	c.(3814-3825)agfs	p.TKDV1272fs	TNIK_ENST00000475336.1_Frame_Shift_Del_p.TKDV1180fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.TKDV1235fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.TKDV1243fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.TKDV1188fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.TKDV1264fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.TKDV1250fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.TKDV1224fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.TKDV1209fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.TKDV1217fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1272	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTGGAGCACCACATCCTTAGTTATCCGGCC	0.448													14	122	---	---	---	---					-	170784409	ACATCCTTAG	-	170784400	7	5	302	1	0	1	0	1	0	0	0	0	16407	159	6	0	270	0	TNIK	3	170784400	Frame_Shift_Del	DEL	ACATCCTTAG	TCGA-CV-7406-01A-11D-2078-08	3750823	170784400	27238030	51	54043											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	62					0	0	0	0	A	178936091	G	A	178936091	3	1	302	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	8151691	178936091	19086339	52	54044											
HTR3D	200909	broad.mit.edu	37	chr3	183756393	183756393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaataagggcccgggtctCacccccacccacctgcccgg	8	4	11	18	2	1	0	1	0	1	0	2	1	1	1	6	4	1	0	6	4	2	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:183756393C>T	ENST00000382489.3	+	7	1116	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	HTR3D_ENST00000428798.2_Silent_p.L322L|HTR3D_ENST00000453435.1_Silent_p.L151L|HTR3D_ENST00000334128.2_Silent_p.L197L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	372						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCCCGGGTCTCACCCCCACCC	0.642													4	30					0	0	0	0	T	183756393	C	T	183756393	2	4	302	1	0	0	0	0	0	0	0	1	7500	813	29	2		2	HTR3D	3	183756393	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	4820302	183756393	14266037	53	54045											
ECE2	9718	broad.mit.edu	37	chr3	184005699	184005699	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgctttggggtccctcttCgtgaaggccacgtttgaccg	4	14	12	11	3	1	2	0	2	1	0	3	2	2	2	3	3	1	2	3	3	1	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:184005699C>T	ENST00000402825.3	+	11	1692	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Silent_p.F446F|ECE2_ENST00000357474.5_Silent_p.F492F|ECE2_ENST00000359140.4_Silent_p.F417F	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	564	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTCCCTCTTCGTGAAGGCCA	0.498													15	58					0	0	0	0	T	184005699	C	T	184005699	2	4	302	1	0	0	0	0	0	0	0	1	4926	883	31	1		1	ECE2	3	184005699	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	249306	184005699	14016731	54	54046											
CHRD	8646	broad.mit.edu	37	chr3	184104374	184104374	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggctccggatacagcctCtgctgcgccgcctgtggtgc	3	8	16	14	3	1	0	0	0	1	0	2	1	2	1	4	4	5	2	4	4	1	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:184104374C>G	ENST00000204604.1	+	16	2273	c.2027C>G	c.(2026-2028)tCt>tGt	p.S676C	CHRD_ENST00000545352.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.S676C|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.S636C	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	676					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATACAGCCTCTGCTGCGCCG	0.711													5	10					0	0	0	0	G	184104374	C	G	184104374	3	3	302	1	0	0	0	0	1	0	0	0	3401	913	32	2	2089	2	CHRD	3	184104374	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	98675	184104374	13918056	55	54047											
RTP1	132112	broad.mit.edu	37	chr3	186917628	186917628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacaaccggcggcaccgcGgagagttctgcgaggcctgc	8	4	16	13	5	1	1	0	0	1	1	1	4	1	2	3	5	3	2	3	5	1	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:186917628G>A	ENST00000312295.4	+	2	592	c.562G>A	c.(562-564)Gga>Aga	p.G188R	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	188					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GCGGCACCGCGGAGAGTTCTG	0.692													10	37					0	0	0	0	A	186917628	G	A	186917628	3	1	302	1	0	0	0	0	1	0	0	0	13818	1117	39	1	568	1	RTP1	3	186917628	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	2813254	186917628	11104802	56	54048											
LSG1	55341	broad.mit.edu	37	chr3	194362968	194362968	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcctttggtcaaagccctCacattctcctaggaaataag	12	11	6	12	0	3	0	2	0	1	0	5	1	4	1	3	2	1	0	3	2	4	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:194362968C>G	ENST00000265245.5	-	14	2120	c.1806G>C	c.(1804-1806)gtG>gtC	p.V602V	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	602					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TCAAAGCCCTCACATTCTCCT	0.488													14	53					0	0	0	0	G	194362968	C	G	194362968	2	3	302	1	0	0	0	0	0	0	0	1	9113	813	29	2		2	LSG1	3	194362968	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	7445340	194362968	3659462	57	54049											
ADRA2C	152	broad.mit.edu	37	chr4	3768899	3768899	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctccttcccgccgctggtctCgctctaccgccagcccgacg	3	8	9	21	6	2	0	0	0	2	0	5	1	4	0	6	1	2	2	6	1	1	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr4:3768899C>G	ENST00000330055.5	+	1	775	c.566C>G	c.(565-567)tCg>tGg	p.S189W	ADRA2C_ENST00000509482.1_Missense_Mutation_p.S189W	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	189					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CCGCTGGTCTCGCTCTACCGC	0.677													3	4					0	0	0	0	G	3768899	C	G	3768899	3	3	302	1	0	0	0	0	1	0	0	0	339	893	31	3	568	3	ADRA2C	4	3768899	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08		3768899	187385377	58	54050											
CLOCK	9575	broad.mit.edu	37	chr4	56310930	56310930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttcagatgttgcatggctCctaattgagctgaaaactga	11	13	9	8	0	1	4	1	3	0	1	2	4	2	4	1	1	3	4	1	1	3	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr4:56310930C>A	ENST00000309964.4	-	18	1812	c.1562G>T	c.(1561-1563)gGa>gTa	p.G521V	CLOCK_ENST00000381322.1_Missense_Mutation_p.G521V|CLOCK_ENST00000513440.1_Missense_Mutation_p.G521V	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	521	Implicated in the circadian rhythmicity (By similarity).				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TTGCATGGCTCCTAATTGAGC	0.338													19	24					6.49762e-13	6.92023e-13	1	0	A	56310930	C	A	56310930	3	1	302	1	0	0	0	0	1	0	0	0	3579	855	30	2	998	2	CLOCK	4	56310930	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	52542031	56310930	134843346	59	54051											
SLC4A4	8671	broad.mit.edu	37	chr4	72397811	72397811	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagtgattttgccattatCttgtccattctcatcttttg	7	20	5	9	0	4	1	2	1	3	0	6	1	5	1	2	0	1	0	2	0	1	7			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr4:72397811C>T	ENST00000340595.3	+	14	2263	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	SLC4A4_ENST00000264485.5_Silent_p.I733I|SLC4A4_ENST00000351898.6_Silent_p.I733I|SLC4A4_ENST00000425175.1_Silent_p.I733I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	733						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTGCCATTATCTTGTCCATTC	0.378													13	38					0	0	0	0	T	72397811	C	T	72397811	2	4	302	1	0	0	0	0	0	0	0	1	14744	903	32	2		2	SLC4A4	4	72397811	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	16086881	72397811	118756465	60	54052											
TIGD2	166815	broad.mit.edu	37	chr4	90034531	90034531	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttaagcagcgccatggtattCcaaaggctgctggtaaagga	12	9	12	8	1	0	0	0	0	0	0	1	1	1	1	2	4	3	5	2	4	5	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr4:90034531C>G	ENST00000317005.2	+	1	564	c.406C>G	c.(406-408)Cca>Gca	p.P136A		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	136	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		Ccatggtattccaaaggctgc	0.398													20	46					0	0	0	0	G	90034531	C	G	90034531	3	3	302	1	0	0	0	0	1	0	0	0	15990	855	30	2	408	2	TIGD2	4	90034531	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	17636720	90034531	101119745	61	54053											
FGG	2266	broad.mit.edu	37	chr4	155530881	155530881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaataaagtaaagcccgctCtgtttagctcccttattggc	10	14	7	10	1	1	0	0	0	1	0	2	0	2	0	2	1	2	4	2	1	7	7			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr4:155530881C>T	ENST00000404648.3	-	6	806	c.567G>A	c.(565-567)caG>caA	p.Q189Q	FGG_ENST00000405164.1_Silent_p.Q197Q|FGG_ENST00000336098.3_Silent_p.Q189Q|FGG_ENST00000407946.1_Silent_p.Q197Q	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	189	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAAGCCCGCTCTGTTTAGCTC	0.418													17	57					0	0	0	0	T	155530881	C	T	155530881	2	4	302	1	0	0	0	0	0	0	0	1	5915	912	32	2		2	FGG	4	155530881	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	65496350	155530881	35623395	62	54054											
TRIO	7204	broad.mit.edu	37	chr5	14368963	14368963	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaagatggaagatcgcctCaagctcgtcaacgcctctgt	10	9	9	13	3	4	2	3	0	1	2	6	3	4	3	2	1	2	1	2	1	4	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:14368963C>G	ENST00000344204.4	+	17	3045	c.3021C>G	c.(3019-3021)ctC>ctG	p.L1007L	TRIO_ENST00000509967.2_Silent_p.L958L|TRIO_ENST00000537187.1_Silent_p.L1007L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1007					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAGATCGCCTCAAGCTCGTCA	0.522													10	68					0	0	0	0	G	14368963	C	G	14368963	2	3	302	1	0	0	0	0	0	0	0	1	16647	813	29	2		2	TRIO	5	14368963	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08		14368963	166546297	63	54055											
PDZD2	23037	broad.mit.edu	37	chr5	32088427	32088427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccacccaggctgccatctgtCctgcctcagccaaagttctg	7	9	8	17	0	3	0	1	0	2	0	4	0	4	0	6	1	3	2	6	1	1	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:32088427C>G	ENST00000438447.1	+	20	5261	c.4873C>G	c.(4873-4875)Cct>Gct	p.P1625A	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1625A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1625					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGCCATCTGTCCTGCCTCAGC	0.557													54	124					0	0	0	0	G	32088427	C	G	32088427	3	3	302	1	0	0	0	0	1	0	0	0	11772	855	30	2	4947	2	PDZD2	5	32088427	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	17719464	32088427	148826833	64	54056											
HCN1	348980	broad.mit.edu	37	chr5	45353208	45353208	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaataaatcttacctctctCagaggatcattgagttcatt	13	14	5	9	0	5	2	3	1	2	1	6	3	5	3	1	1	1	1	1	1	4	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:45353208C>T	ENST00000303230.4	-	5	1428	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	457						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.L457L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTACCTCTCTCAGAGGATCAT	0.343													13	32					0	0	0	0	T	45353208	C	T	45353208	2	4	302	1	0	0	0	0	0	0	0	1	7046	813	29	2		2	HCN1	5	45353208	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	13264781	45353208	135562052	65	54057											
MAP1B	4131	broad.mit.edu	37	chr5	71494584	71494584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttatattcacctactttttCagattctacctctgcagtca	9	18	3	11	0	5	1	3	0	2	1	5	1	5	1	2	0	3	1	2	0	4	9			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:71494584C>T	ENST00000296755.7	+	5	5700	c.5402C>T	c.(5401-5403)tCa>tTa	p.S1801L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1801						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTACTTTTTCAGATTCTACC	0.473													13	63					0	0	0	0	T	71494584	C	T	71494584	3	4	302	1	0	0	0	0	1	0	0	0	9297	838	29	2	5420	2	MAP1B	5	71494584	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	26141376	71494584	109420676	66	54058											
ENC1	8507	broad.mit.edu	37	chr5	73931590	73931590	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgagatagatggctggcaGaagtgccagccttactgtct	10	10	12	9	0	1	3	0	1	1	3	1	4	1	3	2	2	3	2	2	2	3	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:73931590G>C	ENST00000302351.4	-	2	1851	c.721C>G	c.(721-723)Ctg>Gtg	p.L241V	ENC1_ENST00000537006.1_Missense_Mutation_p.L241V|ENC1_ENST00000510316.1_Missense_Mutation_p.L168V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	241					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ATGGCTGGCAGAAGTGCCAGC	0.483													22	65					0	0	0	0	C	73931590	G	C	73931590	3	2	302	1	0	0	0	0	1	0	0	0	5151	933	33	2	1052	2	ENC1	5	73931590	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	2437006	73931590	106983670	67	54059											
ANKRD34B	340120	broad.mit.edu	37	chr5	79855801	79855801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatggactgctttgatcaagGaatttccttcacttgaaatt	11	15	8	7	0	2	2	2	2	0	0	3	5	3	4	1	2	1	1	1	2	3	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:79855801G>T	ENST00000338682.3	-	5	710	c.38C>A	c.(37-39)tCc>tAc	p.S13Y		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	13						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TTTGATCAAGGAATTTCCTTC	0.458													15	58					1.5739e-10	1.66275e-10	1	0	T	79855801	G	T	79855801	3	4	302	1	0	0	0	0	1	0	0	0	662	1174	41	2	1510	2	ANKRD34B	5	79855801	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	5924211	79855801	101059459	68	54060											
XRCC4	7518	broad.mit.edu	37	chr5	82491695	82491695	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagaaaatcaagccaaaaAtgagcacctgcagaaagaaa	21	4	8	8	0	1	4	1	1	0	3	1	4	1	4	2	0	4	3	2	0	7	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:82491695A>C	ENST00000282268.3	+	4	597	c.422A>C	c.(421-423)aAt>aCt	p.N141T	XRCC4_ENST00000338635.6_Missense_Mutation_p.N141T|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Missense_Mutation_p.N141T|XRCC4_ENST00000511817.1_Missense_Mutation_p.N141T	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	141					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		CAAGCCAAAAATGAGCACCTG	0.403								Non-homologous end-joining					10	72					0	0	0	0	C	82491695	A	C	82491695	3	2	302	1	0	0	0	0	1	0	0	0	17551	101	4	5	432	5	XRCC4	5	82491695	Missense_Mutation	SNP	A	TCGA-CV-7406-01A-11D-2078-08	2635894	82491695	98423565	69	54061											
GPR98	84059	broad.mit.edu	37	chr5	89943367	89943367	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgccaactttacagttctCagaaatggatctgttgatgt	11	14	8	8	0	2	2	1	1	2	1	3	3	2	3	1	1	3	2	1	1	3	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:89943367C>T	ENST00000405460.2	+	17	3171	c.3075C>T	c.(3073-3075)ctC>ctT	p.L1025L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1025					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTACAGTTCTCAGAAATGGAT	0.433													20	40					0	0	0	0	T	89943367	C	T	89943367	2	4	302	1	0	0	0	0	0	0	0	1	6771	813	29	2		2	GPR98	5	89943367	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	7451672	89943367	90971893	70	54062											
TTC37	9652	broad.mit.edu	37	chr5	94876457	94876457	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggaactgagtcaattttctCcatagttgatgaagctcttc	11	14	8	8	0	3	3	1	3	2	0	5	4	3	4	1	1	2	2	1	1	4	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:94876457C>T	ENST00000358746.2	-	8	778	c.480G>A	c.(478-480)tgG>tgA	p.W160*		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	160							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCAATTTTCTCCATAGTTGAT	0.378													27	65					0	0	0	0	T	94876457	C	T	94876457	4	4	302	1	0	0	0	0	0	1	0	0	16801	856	30	2	4358	2	TTC37	5	94876457	Nonsense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	4933090	94876457	86038803	71	54063											
RAD50	10111	broad.mit.edu	37	chr5	131915735	131915735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaaattgtcaaatcctatGagaatgaacttgatccattg	15	12	8	6	0	1	3	1	3	0	1	3	5	3	4	2	1	1	0	2	1	5	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:131915735G>A	ENST00000378823.3	+	5	1134	c.316G>A	c.(316-318)Gag>Aag	p.E106K	RAD50_ENST00000265335.6_Missense_Mutation_p.E245K|RAD50_ENST00000487596.1_3'UTR	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	245					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAATCCTATGAGAATGAACT	0.294								Homologous recombination					33	66					0	0	0	0	A	131915735	G	A	131915735	3	1	302	1	0	0	0	0	1	0	0	0	13066	1291	45	2	751	2	RAD50	5	131915735	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	37039278	131915735	48999525	72	54064											
EGR1	1958	broad.mit.edu	37	chr5	137803417	137803417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagaaggacaagaaagcaGacaaaagtgttgtggcctct	15	6	13	7	0	1	3	0	0	1	3	1	4	1	4	1	3	1	3	1	3	5	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:137803417G>A	ENST00000239938.4	+	2	1551	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	427					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAAGAAAGCAGACAAAAGTGT	0.542													12	32					0	0	0	0	A	137803417	G	A	137803417	3	1	302	1	0	0	0	0	1	0	0	0	5007	942	33	2	1285	2	EGR1	5	137803417	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	5887682	137803417	43111843	73	54065											
PSD2	84249	broad.mit.edu	37	chr5	139192996	139192996	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcacccagtacagcagcctCgactccctagacgggctgag	9	5	12	15	2	0	2	0	1	0	1	2	3	1	2	3	2	3	4	3	2	2	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:139192996C>T	ENST00000274710.3	+	3	679	c.474C>T	c.(472-474)ctC>ctT	p.L158L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	158					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAGCCTCGACTCCCTAG	0.652													27	59					0	0	0	0	T	139192996	C	T	139192996	2	4	302	1	0	0	0	0	0	0	0	1	12726	871	31	1		1	PSD2	5	139192996	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	1389579	139192996	41722264	74	54066											
PCDHGA4	56111	broad.mit.edu	37	chr5	140735361	140735361	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagctggtgctggaacgCgctctagatcgcgaggaaga	10	6	15	10	4	1	3	0	0	1	3	2	6	1	5	1	3	3	3	1	3	3	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:140735361C>T	ENST00000571252.1	+	1	594	c.594C>T	c.(592-594)cgC>cgT	p.R198R	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGAACGCGCTCTAGATC	0.567													7	8					0	0	0	0	T	140735361	C	T	140735361	2	4	302	1	0	0	0	0	0	0	0	1	11627	755	27	1		1	PCDHGA4	5	140735361	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	1542365	140735361	40179899	75	54067											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811312	140811312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggataatgcaggatattctgCgcgagccaaagtcctgatca	12	9	11	9	2	2	1	1	1	1	0	3	4	3	3	2	2	3	1	2	2	3	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:140811312C>T	ENST00000252085.3	+	1	1128	c.986C>T	c.(985-987)gCg>gTg	p.A329V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATATTCTGCGCGAGCCAAA	0.507													23	55					0	0	0	0	T	140811312	C	T	140811312	3	4	302	1	0	0	0	0	1	0	0	0	11624	768	27	1	988	1	PCDHGA12	5	140811312	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	75951	140811312	40103948	76	54068											
SPRY4	81848	broad.mit.edu	37	chr5	141694650	141694650	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttgggagtcaagggggcGctctgtgggatcgggggctc	5	8	21	7	2	2	0	1	0	1	0	4	3	2	2	0	6	0	3	0	6	1	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:141694650G>A	ENST00000344120.4	-	3	279	c.93C>T	c.(91-93)agC>agT	p.S31S	SPRY4_ENST00000434127.2_Silent_p.S8S	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	8					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGGGGGCGCTCTGTGGGA	0.632									Testicular Cancer, Familial Clustering of				10	21					0	0	0	0	A	141694650	G	A	141694650	2	1	302	1	0	0	0	0	0	0	0	1	15198	1078	38	1		1	SPRY4	5	141694650	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	883338	141694650	39220610	77	54069											
EBF1	1879	broad.mit.edu	37	chr5	158140039	158140039	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttgtccactgaacgaattCacgcccatcatccctgcgtg	9	10	8	14	3	2	1	2	1	0	0	4	2	4	1	3	0	2	1	3	0	2	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:158140039C>T	ENST00000313708.6	-	13	1590	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	EBF1_ENST00000380654.4_Silent_p.V405V|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.V428V	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	436					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAACGAATTCACGCCCATCA	0.577			T	HMGA2	lipoma								22	45					0	0	0	0	T	158140039	C	T	158140039	2	4	302	1	0	0	0	0	0	0	0	1	4916	813	29	2		2	EBF1	5	158140039	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	16445389	158140039	22775221	78	54070											
SERPINB1	1992	broad.mit.edu	37	chr6	2838863	2838863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctccacgtttgttgatatCagcattcagactctggaatc	9	13	8	11	2	3	2	2	1	1	1	5	3	4	3	1	1	1	4	1	1	2	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:2838863C>T	ENST00000380739.5	-	3	428	c.226G>A	c.(226-228)Gat>Aat	p.D76N	SERPINB1_ENST00000537185.1_5'UTR|SERPINB1_ENST00000476896.1_5'UTR			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	76					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TTGTTGATATCAGCATTCAGA	0.338													12	38					0	0	0	0	T	2838863	C	T	2838863	3	4	302	1	0	0	0	0	1	0	0	0	14183	826	29	2	933	2	SERPINB1	6	2838863	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08		2838863	168276204	79	54071											
ZNF184	7738	broad.mit.edu	37	chr6	27419348	27419348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagggcttctccccagtgtGaattcgttgatgctgagtta	8	14	11	8	1	1	3	0	3	1	0	3	3	1	3	2	1	1	4	2	1	3	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:27419348G>A	ENST00000211936.6	-	6	2274	c.1990C>T	c.(1990-1992)Cac>Tac	p.H664Y	ZNF184_ENST00000377419.1_Missense_Mutation_p.H664Y	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCCCCAGTGTGAATTCGTTGA	0.423													24	45					0	0	0	0	A	27419348	G	A	27419348	3	1	302	1	0	0	0	0	1	0	0	0	17846	1290	45	2	269	2	ZNF184	6	27419348	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	24580485	27419348	143695719	80	54072											
ZNF184	7738	broad.mit.edu	37	chr6	27419878	27419878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgatgttgagtaagggatGagcagtaactgaaggccttt	11	11	13	6	1	0	3	0	3	0	0	1	5	1	4	2	2	2	4	2	2	3	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:27419878G>A	ENST00000211936.6	-	6	1744	c.1460C>T	c.(1459-1461)tCa>tTa	p.S487L	ZNF184_ENST00000377419.1_Missense_Mutation_p.S487L	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGTAAGGGATGAGCAGTAACT	0.403													25	59					0	0	0	0	A	27419878	G	A	27419878	3	1	302	1	0	0	0	0	1	0	0	0	17846	1294	45	2	799	2	ZNF184	6	27419878	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	530	27419878	143695189	81	54073											
GNL1	2794	broad.mit.edu	37	chr6	30521243	30521243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaccacaagagctggcGgggccagatccaccttgttc	10	6	12	13	1	0	2	0	0	0	2	2	2	1	2	4	4	2	3	4	4	2	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:30521243G>A	ENST00000376621.3	-	6	1662	c.692C>T	c.(691-693)cCg>cTg	p.P231L		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	231					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AAGAGCTGGCGGGGCCAGATC	0.542													30	82					0	0	0	0	A	30521243	G	A	30521243	3	1	302	1	0	0	0	0	1	0	0	0	6586	1116	39	1	1159	1	GNL1	6	30521243	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	3101365	30521243	140593824	82	54074											
SPDEF	25803	broad.mit.edu	37	chr6	34507128	34507128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatgggctgcccggagcatGatgagtccacctcgctgtcg	6	8	15	12	3	0	2	0	2	0	0	3	4	1	4	3	3	2	3	3	3	0	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:34507128G>A	ENST00000374037.3	-	5	1142	c.728C>T	c.(727-729)tCa>tTa	p.S243L	SPDEF_ENST00000544425.1_Missense_Mutation_p.S227L	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	243					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCCGGAGCATGATGAGTCCAC	0.622													42	126					0	0	0	0	A	34507128	G	A	34507128	3	1	302	1	0	0	0	0	1	0	0	0	15116	1294	45	2	287	2	SPDEF	6	34507128	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	3985885	34507128	136607939	83	54075											
FAM135A	57579	broad.mit.edu	37	chr6	71190648	71190648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttaaatagaaatgcacCagcacaaaacaaagattccg	18	8	7	8	1	0	2	0	0	0	2	1	2	1	2	2	1	3	3	2	1	7	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:71190648C>T	ENST00000418814.2	+	9	1201	c.587C>T	c.(586-588)cCa>cTa	p.P196L	FAM135A_ENST00000505769.1_Missense_Mutation_p.P196L|FAM135A_ENST00000361499.3_Missense_Mutation_p.P196L|FAM135A_ENST00000505868.1_Missense_Mutation_p.P196L|FAM135A_ENST00000370479.3_Missense_Mutation_p.P153L|FAM135A_ENST00000457062.2_Missense_Mutation_p.P153L	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	196										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AGAAATGCACCAGCACAAAAC	0.358													14	37					0	0	0	0	T	71190648	C	T	71190648	3	4	302	1	0	0	0	0	1	0	0	0	5489	594	21	4	609	4	FAM135A	6	71190648	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	36683520	71190648	99924419	84	54076											
HACE1	57531	broad.mit.edu	37	chr6	105224986	105224986	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctactcctaaaaatagaatCtaaatatgtagcattggtta	16	13	6	6	0	1	1	0	0	1	1	2	1	2	1	1	1	2	4	1	1	11	8			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:105224986C>G	ENST00000262903.4	-	16	1955		c.e16-1		HACE1_ENST00000369125.2_Intron|HACE1_ENST00000517995.1_Intron	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AAAATAGAATCTAAATATGTA	0.333													10	15					0	0	0	0	G	105224986	C	G	105224986	5	3	302	1	0	0	0	0	0	0	1	0	6990	927	32	2	1087	2	HACE1	6	105224986	Splice_Site	SNP	C	TCGA-CV-7406-01A-11D-2078-08	34034338	105224986	65890081	85	54077											
LAMA4	3910	broad.mit.edu	37	chr6	112438963	112438963	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaaccacgtatcctccttCtgttgaaaagtaagttcctg	11	13	7	10	1	1	2	0	1	1	1	4	2	4	2	4	0	1	4	4	0	6	6			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:112438963C>G	ENST00000230538.7	-	35	5357	c.4960G>C	c.(4960-4962)Gaa>Caa	p.E1654Q	LAMA4_ENST00000424408.2_Missense_Mutation_p.E1647Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.E1647Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.E1647Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1654	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TATCCTCCTTCTGTTGAAAAG	0.458													33	94					0	0	0	0	G	112438963	C	G	112438963	3	3	302	1	0	0	0	0	1	0	0	0	8661	922	32	2	531	2	LAMA4	6	112438963	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	7213977	112438963	58676104	86	54078											
SYTL3	94120	broad.mit.edu	37	chr6	159129394	159129394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctactccacctcctgtcagcGagagccagtgcagccgcagt	8	7	10	16	2	1	1	1	0	0	1	3	2	3	1	5	0	5	2	5	0	1	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:159129394G>A	ENST00000297239.9	+	7	681	c.487G>A	c.(487-489)Gag>Aag	p.E163K	SYTL3_ENST00000360448.3_Missense_Mutation_p.E163K|SYTL3_ENST00000367081.3_Intron			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	163					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TCCTGTCAGCGAGAGCCAGTG	0.517													18	45					0	0	0	0	A	159129394	G	A	159129394	3	1	302	1	0	0	0	0	1	0	0	0	15575	1059	37	1	505	1	SYTL3	6	159129394	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	46690431	159129394	11985673	87	54079											
HECW1	23072	broad.mit.edu	37	chr7	43483921	43483921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggggaacctcggtctgagGcaccagagtcctctgagagc	8	7	15	11	1	2	3	0	2	2	2	4	5	3	4	3	4	2	1	3	4	1	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:43483921G>A	ENST00000395891.1	+	11	1755	c.1150G>A	c.(1150-1152)Gca>Aca	p.A384T	HECW1_ENST00000453890.1_Missense_Mutation_p.A384T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	384					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCGGTCTGAGGCACCAGAGTC	0.577													17	29					0	0	0	0	A	43483921	G	A	43483921	3	1	302	1	0	0	0	0	1	0	0	0	7092	1203	42	4	1184	4	HECW1	7	43483921	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08		43483921	115654742	88	54080											
ADCY1	107	broad.mit.edu	37	chr7	45753517	45753517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtgccccatgcctggcGtctcagtcagggctgggctc	3	9	14	15	2	2	0	2	0	1	0	4	0	2	0	4	3	2	2	4	3	0	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:45753517G>A	ENST00000297323.7	+	20	3305	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1095					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CATGCCTGGCGTCTCAGTCAG	0.652													19	57					0	0	0	0	A	45753517	G	A	45753517	3	1	302	1	0	0	0	0	1	0	0	0	292	1145	40	1	3361	1	ADCY1	7	45753517	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	2269596	45753517	113385146	89	54081											
ZNF716	441234	broad.mit.edu	37	chr7	57529035	57529035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactaactacaagagaattCatactggagagaaaccctac	17	9	6	9	0	1	2	1	0	0	2	1	5	1	3	1	1	6	0	1	1	8	6			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:57529035C>T	ENST00000420713.1	+	4	980	c.868C>T	c.(868-870)Cat>Tat	p.H290Y		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAGAGAATTCATACTGGAGA	0.408													9	17					0	0	0	0	T	57529035	C	T	57529035	3	4	302	1	0	0	0	0	1	0	0	0	18214	826	29	2	882	2	ZNF716	7	57529035	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	11775518	57529035	101609628	90	54082											
HGF	3082	broad.mit.edu	37	chr7	81374353	81374353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgccggtgtggtgtctgatGatcccagcgctgacaaatct	7	11	13	10	2	2	3	0	3	2	0	3	3	3	3	2	2	2	1	2	2	1	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:81374353G>A	ENST00000222390.5	-	6	935	c.709C>T	c.(709-711)Cat>Tat	p.H237Y	HGF_ENST00000444829.2_Missense_Mutation_p.H237Y|HGF_ENST00000453411.1_Missense_Mutation_p.H232Y|HGF_ENST00000457544.2_Missense_Mutation_p.H232Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	237	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GGTGTCTGATGATCCCAGCGC	0.378													16	39					0	0	0	0	A	81374353	G	A	81374353	3	1	302	1	0	0	0	0	1	0	0	0	7135	1290	45	2	1541	2	HGF	7	81374353	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	23845318	81374353	77764310	91	54083											
PEX1	5189	broad.mit.edu	37	chr7	92131331	92131331	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtcaagatcggtgaaCttgtttatatcacagtccaa	12	12	9	8	1	2	2	2	1	0	1	4	2	3	2	1	2	2	2	1	2	5	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:92131331C>G	ENST00000248633.4	-	14	2384	c.2289G>C	c.(2287-2289)aaG>aaC	p.K763N	PEX1_ENST00000428214.1_Missense_Mutation_p.K706N|PEX1_ENST00000438045.1_Missense_Mutation_p.K441N|PEX1_ENST00000541751.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	763					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GATCGGTGAACTTGTTTATAT	0.353													58	170					0	0	0	0	G	92131331	C	G	92131331	3	3	302	1	0	0	0	0	1	0	0	0	11807	564	20	4	1606	4	PEX1	7	92131331	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	10756978	92131331	67007332	92	54084											
AP4M1	9179	broad.mit.edu	37	chr7	99704400	99704400	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cggcacacgtgctctggcctCcaggtccgattcctcaggct	5	9	11	16	3	2	0	1	0	1	0	5	1	5	0	4	4	1	3	4	4	0	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:99704400C>G	ENST00000429084.1	+	15	1436	c.1278C>G	c.(1276-1278)ctC>ctG	p.L426L	AP4M1_ENST00000359593.4_Silent_p.L419L|AP4M1_ENST00000422582.1_Silent_p.L291L|AP4M1_ENST00000421755.1_Silent_p.L419L			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	419	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTCTGGCCTCCAGGTCCGAT	0.652													9	55					0	0	0	0	G	99704400	C	G	99704400	2	3	302	1	0	0	0	0	0	0	0	1	754	842	30	2		2	AP4M1	7	99704400	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	7573069	99704400	59434263	93	54085											
RELN	5649	broad.mit.edu	37	chr7	103294652	103294652	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttccagggtcacaaattcctCctgcacaaaacaaaaatttt	15	11	4	11	0	1	0	1	0	0	0	4	0	4	0	3	1	2	1	3	1	5	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:103294652C>G	ENST00000428762.1	-	13	1601	c.1441_splice	c.e13-1	p.G481_splice	RELN_ENST00000343529.5_Splice_Site_p.G481_splice|RELN_ENST00000424685.2_Splice_Site_p.G481_splice	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	481					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACAAATTCCTCCTGCACAAAA	0.318													11	34					0	0	0	0	G	103294652	C	G	103294652	5	3	302	1	0	0	0	0	0	0	1	0	13302	869	30	2	9152	2	RELN	7	103294652	Splice_Site	SNP	C	TCGA-CV-7406-01A-11D-2078-08	3590252	103294652	55844011	94	54086											
TMEM168	64418	broad.mit.edu	37	chr7	112412901	112412901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaaatatacgtatcatgtCtgggtccatccactgtccga	12	11	7	11	2	2	0	1	0	1	0	5	1	5	0	3	1	1	1	3	1	5	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:112412901C>G	ENST00000312814.5	-	4	2041	c.1481G>C	c.(1480-1482)aGa>aCa	p.R494T	TMEM168_ENST00000454074.1_Missense_Mutation_p.R494T	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	494						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CGTATCATGTCTGGGTCCATC	0.443													21	51					0	0	0	0	G	112412901	C	G	112412901	3	3	302	1	0	0	0	0	1	0	0	0	16177	913	32	2	620	2	TMEM168	7	112412901	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	9118249	112412901	46725762	95	54087											
FEZF1	389549	broad.mit.edu	37	chr7	121944204	121944204	+	Silent	SNP	C	C	T																															ggggcctccagactggccttCcgcggctcggagcccgtcac																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:121944204C>T	ENST00000442488.2	-	1	355	c.288G>A	c.(286-288)cgG>cgA	p.R96R	FEZF1_ENST00000331178.4_Silent_p.R96R|FEZF1_ENST00000427185.2_Silent_p.R96R|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	96					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GACTGGCCTTCCGCGGCTCGG	0.682													6	13					0	0	0	0	T	121944204	C	T	121944204	2	4	302	1	0	0	0	0	0	0	0	1	5870	842	30	2		2	FEZF1	7	121944204	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	9531303	121944204	37194459	96	54088	434	2									
FEZF1	389549	broad.mit.edu	37	chr7	121944205	121944205	+	Missense_Mutation	SNP	C	C	T																															gggcctccagactggccttcCgcggctcggagcccgtcact																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:121944205C>T	ENST00000442488.2	-	1	354	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	FEZF1_ENST00000331178.4_Missense_Mutation_p.R96Q|FEZF1_ENST00000427185.2_Missense_Mutation_p.R96Q|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	96					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ACTGGCCTTCCGCGGCTCGGA	0.682													6	14					0	0	0	0	T	121944205	C	T	121944205	3	4	302	1	0	0	0	0	1	0	0	0	5870	652	23	1	1156	1	FEZF1	7	121944205	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	1	121944205	37194458	97	54089	434	2									
FLNC	2318	broad.mit.edu	37	chr7	128483349	128483349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgccagcaaagtcaaggccGagggccctgggctgaatcgc	10	5	14	12	2	1	1	1	1	0	0	2	2	1	1	3	3	2	2	3	3	3	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:128483349G>A	ENST00000325888.8	+	17	2878	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	FLNC_ENST00000346177.6_Missense_Mutation_p.E873K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	873					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						AGTCAAGGCCGAGGGCCCTGG	0.642													4	9					0	0	0	0	A	128483349	G	A	128483349	3	1	302	1	0	0	0	0	1	0	0	0	5980	1059	37	1	2683	1	FLNC	7	128483349	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	6539144	128483349	30655314	98	54090											
FLNC	2318	broad.mit.edu	37	chr7	128490905	128490907	+	In_Frame_Del	DEL	ACA	ACA	-																															ggcacggcccaacatcaccgAcaacaaggacggcaccatca																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:128490905_128490907delACA	ENST00000325888.8	+	33	5708_5710	c.5447_5449delACA	c.(5446-5451)gac>g	p.DN1816del	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_In_Frame_Del_p.DN1783del	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1816					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						AACATCACCGACAACAAGGACGG	0.596													27	73	---	---	---	---					-	128490907	ACA	-	128490905	7	5	302	1	0	1	0	1	0	0	0	0	5980	275	10	0	5577	0	FLNC	7	128490905	In_Frame_Del	DEL	ACA	TCGA-CV-7406-01A-11D-2078-08	7556	128490905	30647758	99	54091											
KLF14	136259	broad.mit.edu	37	chr7	130417929	130417929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgggcgccgggccgggaccgGagccggaggcggagctttcc	4	4	20	13	6	0	0	0	0	0	0	1	4	1	4	5	7	2	1	5	7	0	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:130417929G>A	ENST00000310992.4	-	1	959	c.932C>T	c.(931-933)tCc>tTc	p.S311F		NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GCCGGGACCGGAGCCGGAGGC	0.627													3	14					0	0	0	0	A	130417929	G	A	130417929	3	1	302	1	0	0	0	0	1	0	0	0	8394	1174	41	2	43	2	KLF14	7	130417929	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1927024	130417929	28720734	100	54092											
EPHA1	2041	broad.mit.edu	37	chr7	143090949	143090949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggtacccatcctcaatgctCttcataacctgcacggcggg	8	9	9	15	3	3	0	2	0	1	0	4	0	4	0	3	3	4	3	3	3	3	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:143090949C>G	ENST00000275815.3	-	16	2597	c.2511G>C	c.(2509-2511)aaG>aaC	p.K837N		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	837	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCTCAATGCTCTTCATAACCT	0.577													23	43					0	0	0	0	G	143090949	C	G	143090949	3	3	302	1	0	0	0	0	1	0	0	0	5203	912	32	2	431	2	EPHA1	7	143090949	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	12673020	143090949	16047714	101	54093											
ARHGEF10	9639	broad.mit.edu	37	chr8	1905058	1905067	+	Frame_Shift_Del	DEL	GCACTTCCGA	GCACTTCCGA	-																															aggacgaagaccagaaggacGcacttccgagtggaggagct																								rs145146038	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:1905058_1905067delGCACTTCCGA	ENST00000518288.1	+	30	3899_3908	c.3736_3745delGCACTTCCGA	c.(3736-3747)gtfs	p.ALPS1246fs	ARHGEF10_ENST00000349830.3_Frame_Shift_Del_p.ALPS1222fs|ARHGEF10_ENST00000398564.1_Frame_Shift_Del_p.ALPS1247fs|ARHGEF10_ENST00000262112.6_Frame_Shift_Del_p.ALPS1218fs|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000520359.1_Frame_Shift_Del_p.ALPS1184fs			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1247					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	p.A999T(1)|p.A1247T(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCAGAAGGACGCACTTCCGAGTGGAGGAGC	0.59													15	70	---	---	---	---					-	1905067	GCACTTCCGA	-	1905058	7	5	302	1	0	1	0	1	0	0	0	0	896	1087	38	0	3774	0	ARHGEF10	8	1905058	Frame_Shift_Del	DEL	GCACTTCCGA	TCGA-CV-7406-01A-11D-2078-08		1905058	144458964	102	54094											
SNTG1	54212	broad.mit.edu	37	chr8	51621528	51621528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatttatctgctttgatgCtgcaacaaaggtaatgtgtt	11	15	10	5	0	1	1	0	1	1	0	1	2	1	2	0	2	4	5	0	2	4	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:51621528C>T	ENST00000522124.1	+	17	1935	c.1274C>T	c.(1273-1275)gCt>gTt	p.A425V	SNTG1_ENST00000518864.1_Missense_Mutation_p.A425V|SNTG1_ENST00000517473.1_Missense_Mutation_p.A425V|SNTG1_ENST00000276467.5_Missense_Mutation_p.A425V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	425					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGCTTTGATGCTGCAACAAAG	0.378													18	42					0	0	0	0	T	51621528	C	T	51621528	3	4	302	1	0	0	0	0	1	0	0	0	14962	797	28	4	1332	4	SNTG1	8	51621528	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	49716470	51621528	94742494	103	54095											
TRIM55	84675	broad.mit.edu	37	chr8	67066571	67066571	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgcagctacttctcaggTtagtgatgatgcacttgtgt	8	14	10	9	0	1	2	1	2	1	0	2	2	1	2	1	1	4	4	1	1	2	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:67066571T>G	ENST00000315962.4	+	9	1897		c.e9+2		TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000276573.7_Splice_Site	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55							cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ACTTCTCAGGTTAGTGATGAT	0.542													10	27					0	0	0	0	G	67066571	T	G	67066571	5	3	302	1	0	0	0	0	0	0	1	0	16624	1739	60	5	1560	5	TRIM55	8	67066571	Splice_Site	SNP	T	TCGA-CV-7406-01A-11D-2078-08	15445043	67066571	79297451	104	54096											
NCOA2	10499	broad.mit.edu	37	chr8	71039096	71039096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatttgcctggggaatccGagggttgctcatagttgctg	6	13	14	8	1	1	0	1	0	0	0	2	2	2	1	2	3	4	5	2	3	2	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:71039096G>A	ENST00000452400.2	-	19	4049	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W	NCOA2_ENST00000267974.4_Missense_Mutation_p.R378W	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1290					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGGGGAATCCGAGGGTTGCTC	0.502			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								4	23					0	0	0	0	A	71039096	G	A	71039096	3	1	302	1	0	0	0	0	1	0	0	0	10299	1057	37	1	546	1	NCOA2	8	71039096	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	3972525	71039096	75324926	105	54097											
CNBD1	168975	broad.mit.edu	37	chr8	88363940	88363940	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaagtggaaatataatttCttttgtgggttatattaact	13	17	9	2	0	1	0	0	0	1	0	1	2	1	2	0	3	1	1	0	3	7	8			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:88363940C>G	ENST00000518476.1	+	9	1121	c.1070C>G	c.(1069-1071)tCt>tGt	p.S357C		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	357										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AATATAATTTCTTTTGTGGGT	0.274													3	7					0	0	0	0	G	88363940	C	G	88363940	3	3	302	1	0	0	0	0	1	0	0	0	3621	913	32	2	1104	2	CNBD1	8	88363940	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	17324844	88363940	58000082	106	54098											
CSMD3	114788	broad.mit.edu	37	chr8	113569178	113569178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttcacagtgtgagagttCaaaacctgggacaaaaatat	16	10	8	7	0	3	1	2	1	1	1	3	3	3	2	1	1	1	1	1	1	5	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:113569178C>T	ENST00000297405.5	-	25	4292	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	CSMD3_ENST00000343508.3_Missense_Mutation_p.E1310K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1246K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1350K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1350						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGAGAGTTCAAAACCTGGG	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	22					0	0	0	0	T	113569178	C	T	113569178	3	4	302	1	0	0	0	0	1	0	0	0	3978	835	29	2	7263	2	CSMD3	8	113569178	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	25205238	113569178	32794844	107	54099											
COL14A1	7373	broad.mit.edu	37	chr8	121354670	121354670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtggcgcgtcaagtatgcGaacagctcatccagagtaag	12	7	12	10	3	2	1	2	0	0	1	3	2	3	1	1	1	3	3	1	1	4	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:121354670G>A	ENST00000297848.3	+	44	5143	c.4873G>A	c.(4873-4875)Gaa>Aaa	p.E1625K	COL14A1_ENST00000309791.4_Missense_Mutation_p.E1625K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E1530K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1625					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAAGTATGCGAACAGCTCAT	0.478													14	33					0	0	0	0	A	121354670	G	A	121354670	3	1	302	1	0	0	0	0	1	0	0	0	3701	1059	37	1	5043	1	COL14A1	8	121354670	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	7785492	121354670	25009352	108	54100											
GSDMC	56169	broad.mit.edu	37	chr8	130774940	130774940	+	Missense_Mutation	SNP	T	T	G																															ctttctgaagagtcagcgccTtcttcttcactctgagactc																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:130774940T>G	ENST00000276708.4	-	5	1489	c.608A>C	c.(607-609)aAg>aCg	p.K203T		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	203						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AGTCAGCGCCTTCTTCTTCAC	0.473													50	113					0	0	0	0	G	130774940	T	G	130774940	3	3	302	1	0	0	0	0	1	0	0	0	6868	1609	56	5	958	5	GSDMC	8	130774940	Missense_Mutation	SNP	T	TCGA-CV-7406-01A-11D-2078-08	9420270	130774940	15589082	109	54101	435	2									
GSDMC	56169	broad.mit.edu	37	chr8	130774941	130774941	+	Missense_Mutation	SNP	T	T	C																															tttctgaagagtcagcgcctTcttcttcactctgagactct																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:130774941T>C	ENST00000276708.4	-	5	1488	c.607A>G	c.(607-609)Aag>Gag	p.K203E		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	203						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GTCAGCGCCTTCTTCTTCACT	0.468													50	113					0	0	0	0	C	130774941	T	C	130774941	3	2	302	1	0	0	0	0	1	0	0	0	6868	1792	62	5	959	5	GSDMC	8	130774941	Missense_Mutation	SNP	T	TCGA-CV-7406-01A-11D-2078-08	1	130774941	15589081	110	54102	435	2									
ADCY8	114	broad.mit.edu	37	chr8	132052292	132052292	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtgcgctcgctctccCgggcccagcgagtagagggg	4	7	17	13	4	1	1	0	0	1	1	3	2	1	1	2	3	3	4	2	3	1	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr8:132052292C>T	ENST00000286355.5	-	1	2380	c.288G>A	c.(286-288)ccG>ccA	p.P96P	ADCY8_ENST00000377928.3_Silent_p.P96P	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	96					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCGCTCTCCCGGGCCCAGCG	0.746										HNSCC(32;0.087)			3	8					0	0	0	0	T	132052292	C	T	132052292	2	4	302	1	0	0	0	0	0	0	0	1	300	639	23	1		1	ADCY8	8	132052292	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	1277351	132052292	14311730	111	54103											
ARC	23237	broad.mit.edu	37	chr8	143695106	143695106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcgccagcggctgggggcGgggtgatggcgtaggggctg	3	6	23	9	4	0	1	0	1	0	0	1	1	0	1	1	8	1	4	1	8	1	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:143695106G>A	ENST00000356613.2	-	1	1727	c.527C>T	c.(526-528)cCg>cTg	p.P176L		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	176					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GGCTGGGGGCGGGGTGATGGC	0.746													5	4					0	0	0	0	A	143695106	G	A	143695106	3	1	302	1	0	0	0	0	1	0	0	0	843	1116	39	1	667	1	ARC	8	143695106	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	11642814	143695106	2668916	112	54104											
EPPK1	83481	broad.mit.edu	37	chr8	144940654	144940654	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagcaccagggccgtgccGggccgcagcacgcccttcca	7	3	13	18	4	0	0	0	0	0	0	1	0	1	0	6	2	4	4	6	2	0	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr8:144940654G>A	ENST00000525985.1	-	2	6839	c.6768C>T	c.(6766-6768)ccC>ccT	p.P2256P				P58107	EPIPL_HUMAN	epiplakin 1	2256						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGTGCCGGGCCGCAGCA	0.726													5	107					0	0	0	0	A	144940654	G	A	144940654	2	1	302	1	0	0	0	0	0	0	0	1	5228	1103	39	1		1	EPPK1	8	144940654	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1245548	144940654	1423368	113	54105											
SHARPIN	81858	broad.mit.edu	37	chr8	145154328	145154328	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgggaaaccgagctctgaGaacacctgtggccagagcat	11	5	14	11	2	1	2	0	1	1	2	1	5	1	3	3	3	4	2	3	3	2	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:145154328G>A	ENST00000398712.2	-	6	1210	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	258	Interaction with SHANK1 (By similarity).|Ubiquitin-like.				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGAGCTCTGAGAACACCTGTG	0.652													9	27					0	0	0	0	A	145154328	G	A	145154328	2	1	302	1	0	0	0	0	0	0	0	1	14355	933	33	2		2	SHARPIN	8	145154328	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	213674	145154328	1209694	114	54106											
KIFC2	90990	broad.mit.edu	37	chr8	145692461	145692461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtccagctgggggcggaaGagagctgcgggggcccggcg	5	3	21	12	5	0	1	0	0	0	1	1	3	1	2	3	6	3	2	3	6	1	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:145692461G>A	ENST00000301332.2	+	3	675	c.298G>A	c.(298-300)Gag>Aag	p.E100K		NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	100					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGGGGCGGAAGAGAGCTGCGG	0.746											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	7					0	0	0	0	A	145692461	G	A	145692461	3	1	302	1	0	0	0	0	1	0	0	0	8364	943	33	2	308	2	KIFC2	8	145692461	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	538133	145692461	671561	115	54107											
CCIN	881	broad.mit.edu	37	chr9	36169709	36169709	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgctgatgagcttttcatCaccattgacaccagttacct	10	12	6	13	1	2	3	2	3	0	0	2	3	2	3	4	0	2	3	4	0	1	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr9:36169709C>T	ENST00000335119.2	+	1	321	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	70	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			AGCTTTTCATCACCATTGACA	0.532													8	25					0	0	0	0	T	36169709	C	T	36169709	2	4	302	1	0	0	0	0	0	0	0	1	2905	816	29	2		2	CCIN	9	36169709	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08		36169709	105043722	116	54108											
VPS13A	23230	broad.mit.edu	37	chr9	79936594	79936594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaagtatggattatatccGaaccaaggacaatgatcatt	15	13	7	6	1	1	1	1	1	0	0	2	4	2	3	2	2	1	1	2	2	7	6	rs145524733		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr9:79936594G>A	ENST00000360280.3	+	44	6022	c.5762G>A	c.(5761-5763)cGa>cAa	p.R1921Q	VPS13A_ENST00000376636.3_Missense_Mutation_p.R1882Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.R1921Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.R1921Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1921					Golgi to endosome transport|protein transport	intracellular	protein binding	p.R1921Q(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATTATATCCGAACCAAGGAC	0.353													13	39					0	0	0	0	A	79936594	G	A	79936594	3	1	302	1	0	0	0	0	1	0	0	0	17285	1058	37	1	5936	1	VPS13A	9	79936594	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	43766885	79936594	61276837	117	54109											
SLC28A3	64078	broad.mit.edu	37	chr9	86912933	86912933	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataagacaggtctccagtaaAcctatacagaaagatcaagt	18	8	7	8	0	2	3	1	0	1	3	3	3	2	3	2	1	2	1	2	1	7	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr9:86912933A>C	ENST00000376238.4	-	7	720	c.669_splice	c.e7-1	p.V224_splice	SLC28A3_ENST00000537648.1_Splice_Site_p.V155_splice	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	224					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTCCAGTAAACCTATACAGA	0.418													8	64					0	0	0	0	C	86912933	A	C	86912933	5	2	302	1	0	0	0	0	0	0	1	0	14621	57	2	5	1452	5	SLC28A3	9	86912933	Splice_Site	SNP	A	TCGA-CV-7406-01A-11D-2078-08	6976339	86912933	54300498	118	54110											
LCN2	3934	broad.mit.edu	37	chr9	130914289	130914289	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaacagggagtacttcAagatcaccctctacggtggg	12	8	10	11	1	4	1	3	0	1	1	4	2	4	2	1	3	3	1	1	3	5	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr9:130914289A>C	ENST00000540948.1	+	4	533	c.460A>C	c.(460-462)Aag>Cag	p.K154Q	LCN2_ENST00000373013.2_Missense_Mutation_p.K156Q|LCN2_ENST00000373017.1_Missense_Mutation_p.K154Q|LCN2_ENST00000372998.1_Missense_Mutation_p.K156Q|LCN2_ENST00000277480.2_Missense_Mutation_p.K154Q|LCN2_ENST00000470902.1_3'UTR			P80188	NGAL_HUMAN	lipocalin 2	154					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						GGAGTACTTCAAGATCACCCT	0.547													24	79					0	0	0	0	C	130914289	A	C	130914289	3	2	302	1	0	0	0	0	1	0	0	0	8737	131	5	5	474	5	LCN2	9	130914289	Missense_Mutation	SNP	A	TCGA-CV-7406-01A-11D-2078-08	44001356	130914289	10299142	119	54111											
KLF6	1316	broad.mit.edu	37	chr10	3822362	3822362	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggaagtgcctggttaactCatcacttcttgcaaaacgcc	10	11	8	12	2	3	0	2	0	1	0	4	1	3	1	2	2	4	2	2	2	4	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:3822362C>G	ENST00000497571.1	-	3	996	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Intron	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	246					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CTGGTTAACTCATCACTTCTT	0.542													24	80					0	0	0	0	G	3822362	C	G	3822362	3	3	302	1	0	0	0	0	1	0	0	0	8402	835	29	2	123	2	KLF6	10	3822362	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08		3822362	131712385	120	54112											
SVIL	6840	broad.mit.edu	37	chr10	29821993	29821993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttctttttcttctccttCtccttccccttcttcttctt	0	25	0	16	0	8	0	0	0	8	0	11	0	9	0	4	0	0	0	4	0	0	11			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:29821993C>T	ENST00000375398.2	-	10	1752	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	SVIL_ENST00000355867.4_Missense_Mutation_p.E435K|SVIL_ENST00000375400.3_Intron			O95425	SVIL_HUMAN	supervillin	435					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				tcttctccttctccttcccct	0.507													23	22					0	0	0	0	T	29821993	C	T	29821993	3	4	302	1	0	0	0	0	1	0	0	0	15511	922	32	2	5465	2	SVIL	10	29821993	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	25999631	29821993	105712754	121	54113											
FZD8	8325	broad.mit.edu	37	chr10	35929479	35929479	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaaggtggagacggtggcGaaggtggacacgaagcagag	13	3	20	5	3	0	2	0	0	0	2	0	7	0	4	0	7	1	1	0	7	3	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:35929479G>A	ENST00000374694.1	-	1	883	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	293					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGACGGTGGCGAAGGTGGACA	0.622													19	26					0	0	0	0	A	35929479	G	A	35929479	2	1	302	1	0	0	0	0	0	0	0	1	6184	1049	37	1		1	FZD8	10	35929479	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	6107486	35929479	99605268	122	54114											
ANKRD30A	91074	broad.mit.edu	37	chr10	37482137	37482137	+	Frame_Shift_Del	DEL	T	T	-																															ccctgcagaatgaaagtttcTattccaactaaagccttaga																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:37482137delT	ENST00000374660.1	+	33	2853	c.2754delT	c.(2752-2754)tcfs	p.S918fs	ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.S799fs|ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.S799fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	969						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAAAGTTTCTATTCCAACTA	0.264													12	72	---	---	---	---					-	37482137	T	-	37482137	7	5	302	1	0	1	0	1	0	0	0	0	658	1509	53	0	2503	0	ANKRD30A	10	37482137	Frame_Shift_Del	DEL	T	TCGA-CV-7406-01A-11D-2078-08	1552658	37482137	98052610	123	54115											
FAM13C	220965	broad.mit.edu	37	chr10	61012605	61012605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagagagctggtggttttaCttctttcttttcatctggta	6	18	11	6	0	4	1	1	0	3	1	4	3	4	2	0	4	2	3	0	4	2	7	rs147340549	by1000genomes	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:61012605C>T	ENST00000373867.3	-	13	1699	c.1234G>A	c.(1234-1236)Gta>Ata	p.V412I	FAM13C_ENST00000277705.6_Missense_Mutation_p.V516I|FAM13C_ENST00000373868.2_Missense_Mutation_p.V496I|FAM13C_ENST00000419214.2_Missense_Mutation_p.V398I|FAM13C_ENST00000468840.2_Missense_Mutation_p.V413I|FAM13C_ENST00000442566.3_Missense_Mutation_p.V517I|FAM13C_ENST00000435852.2_Missense_Mutation_p.V496I	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	496										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						GGTGGTTTTACTTCTTTCTTT	0.453													3	42					0	0	0	0	T	61012605	C	T	61012605	3	4	302	1	0	0	0	0	1	0	0	0	5495	565	20	4	283	4	FAM13C	10	61012605	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	23530468	61012605	74522142	124	54116											
RHOBTB1	9886	broad.mit.edu	37	chr10	62637691	62637691	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgcaaccaagtgtggcagGcaaaatctgtttgccaaggc	12	8	12	9	0	1	0	0	0	1	0	1	0	1	0	2	3	3	4	2	3	5	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:62637691G>A	ENST00000337910.5	-	8	2038	c.1701C>T	c.(1699-1701)tgC>tgT	p.C567C	RHOBTB1_ENST00000357917.4_Silent_p.C567C	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	567					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AGTGTGGCAGGCAAAATCTGT	0.403													3	35					0	0	0	0	A	62637691	G	A	62637691	2	1	302	1	0	0	0	0	0	0	0	1	13416	1195	42	4		4	RHOBTB1	10	62637691	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1625086	62637691	72897056	125	54117											
PAX2	5076	broad.mit.edu	37	chr10	102510539	102510539	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggtggacaagattgctGaatacaaacgacagaacccg	16	6	11	8	2	0	3	0	1	0	2	0	5	0	4	1	2	4	1	1	2	6	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:102510539G>T	ENST00000370296.2	+	3	851	c.301G>T	c.(301-303)Gaa>Taa	p.E101*	PAX2_ENST00000355243.3_Nonsense_Mutation_p.E101*|PAX2_ENST00000428433.1_Nonsense_Mutation_p.E101*|PAX2_ENST00000556085.1_Nonsense_Mutation_p.E100*|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000361791.3_Nonsense_Mutation_p.E101*			Q02962	PAX2_HUMAN	paired box 2	101	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAAGATTGCTGAATACAAACG	0.587													32	35					1.56442e-22	1.70782e-22	1	0	T	102510539	G	T	102510539	4	4	302	1	0	0	0	0	0	1	0	0	11550	1291	45	2	311	2	PAX2	10	102510539	Nonsense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	39872848	102510539	33024208	126	54118											
SFXN4	119559	broad.mit.edu	37	chr10	120917539	120917539	+	Missense_Mutation	SNP	C	C	A																															acctgaggtaaaatcacggaCttgatccctttcagtggcgt																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:120917539C>A	ENST00000355697.2	-	7	415	c.396G>T	c.(394-396)aaG>aaT	p.K132N	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.K123N	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	132					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		AAATCACGGACTTGATCCCTT	0.428													8	52					5.4927e-09	5.71067e-09	1	0	A	120917539	C	A	120917539	3	1	302	1	0	0	0	0	1	0	0	0	14284	564	20	4	649	4	SFXN4	10	120917539	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	18407000	120917539	14617208	127	54119	436	2									
SFXN4	119559	broad.mit.edu	37	chr10	120917544	120917544	+	Missense_Mutation	SNP	T	T	A																															aggtaaaatcacggacttgaTccctttcagtggcgtcattg																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:120917544T>A	ENST00000355697.2	-	7	410	c.391A>T	c.(391-393)Atc>Ttc	p.I131F	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.I122F	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	131					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		ACGGACTTGATCCCTTTCAGT	0.418													8	48					0	0	0	0	A	120917544	T	A	120917544	3	1	302	1	0	0	0	0	1	0	0	0	14284	1435	50	5	654	5	SFXN4	10	120917544	Missense_Mutation	SNP	T	TCGA-CV-7406-01A-11D-2078-08	5	120917544	14617203	128	54120	436	2									
HBE1	3046	broad.mit.edu	37	chr11	5290881	5290881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgtcaaaaaatctctGggtccaggggtaaacaacga	16	7	10	8	1	2	0	1	0	1	0	4	1	3	0	1	3	3	2	1	3	7	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:5290881G>T	ENST00000380237.1	-	4	462	c.118C>A	c.(118-120)Cag>Aag	p.Q40K	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.Q40K			P02100	HBE_HUMAN	hemoglobin, epsilon 1	40					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAATCTCTGGGTCCAGGGG	0.463													17	41					4.7546e-09	4.96297e-09	1	0	T	5290881	G	T	5290881	3	4	302	1	0	0	0	0	1	0	0	0	7030	1357	47	4	333	4	HBE1	11	5290881	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08		5290881	129715635	129	54121											
CYB5R2	51700	broad.mit.edu	37	chr11	7689018	7689018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggtccttggtgatgtggcGaatgagctgcaacatgggtg	7	10	18	6	1	0	2	0	2	0	0	1	3	1	2	1	5	3	2	1	5	2	1	rs149733078		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:7689018G>A	ENST00000533558.1	-	7	1055	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	CYB5R2_ENST00000299497.9_Missense_Mutation_p.R167C|CYB5R2_ENST00000299498.6_Missense_Mutation_p.R167C|CYB5R2_ENST00000524790.1_Missense_Mutation_p.R167C|CYB5R2_ENST00000528585.1_5'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	167					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGATGTGGCGAATGAGCTGC	0.552													19	68					0	0	0	0	A	7689018	G	A	7689018	3	1	302	1	0	0	0	0	1	0	0	0	4159	1058	37	1	343	1	CYB5R2	11	7689018	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	2398137	7689018	127317498	130	54122											
CD44	960	broad.mit.edu	37	chr11	35223298	35223298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctcattcaccatgagcatCatgaggaagaagagacccca	14	6	8	13	0	3	4	3	2	0	2	3	6	3	5	4	1	1	1	4	1	2	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:35223298C>T	ENST00000428726.2	+	9	1240	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	CD44_ENST00000415148.2_Missense_Mutation_p.H330Y|CD44_ENST00000437706.2_Missense_Mutation_p.H373Y|CD44_ENST00000434472.2_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.H373Y|CD44_ENST00000433892.2_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.H374Y|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000263398.6_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	373	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CCATGAGCATCATGAGGAAGA	0.463													4	31					0	0	0	0	T	35223298	C	T	35223298	3	4	302	1	0	0	0	0	1	0	0	0	3046	826	29	2	1151	2	CD44	11	35223298	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	27534280	35223298	99783218	131	54123											
OR5D16	390144	broad.mit.edu	37	chr11	55606668	55606668	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaactctgtgccatgctggtGgttgtattgtatgcatgggg	7	14	14	6	0	1	0	0	0	1	0	1	0	1	0	1	4	4	5	1	4	3	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:55606668G>A	ENST00000378396.1	+	1	441	c.441G>A	c.(439-441)gtG>gtA	p.V147V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCATGCTGGTGGTTGTATTGT	0.448													20	54					0	0	0	0	A	55606668	G	A	55606668	2	1	302	1	0	0	0	0	0	0	0	1	11227	1335	47	4		4	OR5D16	11	55606668	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	20383370	55606668	79399848	132	54124											
FOLH1B	219595	broad.mit.edu	37	chr11	89392799	89392799	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaagtcctatccagacGgttggaatcttcctggaggt	8	11	14	8	1	1	2	0	1	1	1	4	4	4	4	3	5	0	1	3	5	3	3	rs10830330	by1000genomes	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:89392799G>A	ENST00000532352.1	+	0	622							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CTATCCAGACGGTTGGAATCT	0.512													3	31					0	0	0	0	A	89392799	G	A	89392799	1	1	302	0	1	0	0	0	0	0	0	0	6025	1131	39	1		1	FOLH1B	11	89392799	RNA	SNP	G	TCGA-CV-7406-01A-11D-2078-08	33786131	89392799	45613717	133	54125											
ENDOD1	23052	broad.mit.edu	37	chr11	94861543	94861543	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgttttcttcttgcagatCgatgaccccaacagcaacct	9	13	6	13	1	2	2	0	1	2	1	3	3	2	2	3	0	4	3	3	0	2	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:94861543C>T	ENST00000278505.4	+	2	421	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	101						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TCTTGCAGATCGATGACCCCA	0.517													5	20					0	0	0	0	T	94861543	C	T	94861543	2	4	302	1	0	0	0	0	0	0	0	1	5152	874	31	1		1	ENDOD1	11	94861543	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	5468744	94861543	40144973	134	54126											
MMP8	4317	broad.mit.edu	37	chr11	102593222	102593222	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaacataaaaccaccactGtcaggcactccacagcgagg	14	6	8	13	1	1	0	1	0	0	0	2	1	2	0	3	2	3	2	3	2	3	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:102593222G>A	ENST00000236826.3	-	2	383	c.285C>T	c.(283-285)gaC>gaT	p.D95D		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	95					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		AACCACCACTGTCAGGCACTC	0.458													26	21					0	0	0	0	A	102593222	G	A	102593222	2	1	302	1	0	0	0	0	0	0	0	1	9738	1368	48	4		4	MMP8	11	102593222	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	7731679	102593222	32413294	135	54127											
C3AR1	719	broad.mit.edu	37	chr12	8212581	8212581	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggcagcagaggaggtcCgccaaggtgaggtggaggaa	12	3	20	6	1	0	3	0	1	0	2	1	7	1	6	2	7	1	2	2	7	2	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:8212581C>T	ENST00000307637.4	-	2	404	c.201G>A	c.(199-201)gcG>gcA	p.A67A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	67					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGAGGAGGTCCGCCAAGGTGA	0.592													8	65					0	0	0	0	T	8212581	C	T	8212581	2	4	302	1	0	0	0	0	0	0	0	1	2225	639	23	1		1	C3AR1	12	8212581	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08		8212581	125639314	136	54128											
AICDA	57379	broad.mit.edu	37	chr12	8758041	8758041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggtctaggtcccagtccGagatgtagcggaggaagagc	10	6	16	9	2	1	2	0	0	1	2	3	5	3	4	2	4	2	1	2	4	3	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:8758041G>A	ENST00000229335.6	-	3	300	c.197C>T	c.(196-198)tCg>tTg	p.S66L	AICDA_ENST00000537228.1_Missense_Mutation_p.S66L	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	66					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GTCCCAGTCCGAGATGTAGCG	0.587													17	126					0	0	0	0	A	8758041	G	A	8758041	3	1	302	1	0	0	0	0	1	0	0	0	422	1059	37	1	411	1	AICDA	12	8758041	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	545460	8758041	125093854	137	54129											
PRB2	653247	broad.mit.edu	37	chr12	11546807	11546807	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaggaggtgggggaccttGaggctggttgcctccttgtg	4	11	19	7	0	0	1	0	1	0	0	1	4	1	4	3	7	1	2	3	7	0	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:11546807G>C	ENST00000389362.4	-	3	240	c.205C>G	c.(205-207)Caa>Gaa	p.Q69E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGACCTTGAGGCTGGTTG	0.607													69	490					0	0	0	0	C	11546807	G	C	11546807	3	2	302	1	0	0	0	0	1	0	0	0	12523	1299	45	2	1049	2	PRB2	12	11546807	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	2788766	11546807	122305088	138	54130											
PTPRO	5800	broad.mit.edu	37	chr12	15742398	15742398	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttgcagtgctggcgtGggacggacaggaacattcat	8	12	13	8	2	2	0	1	0	1	0	2	3	2	3	0	4	3	2	0	4	1	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:15742398G>A	ENST00000281171.4	+	25	3750	c.3420G>A	c.(3418-3420)gtG>gtA	p.V1140V	PTPRO_ENST00000348962.2_Silent_p.V1112V|PTPRO_ENST00000445537.2_Silent_p.V329V|PTPRO_ENST00000542557.1_Silent_p.V301V|PTPRO_ENST00000544244.1_Silent_p.V301V|PTPRO_ENST00000442921.2_Silent_p.V329V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1140	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GTGCTGGCGTGGGACGGACAG	0.448													37	102					0	0	0	0	A	15742398	G	A	15742398	2	1	302	1	0	0	0	0	0	0	0	1	12891	1335	47	4		4	PTPRO	12	15742398	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	4195591	15742398	118109497	139	54131											
ADAMTS20	80070	broad.mit.edu	37	chr12	43847849	43847849	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttacacatagcccatgacGgcaatgctataaaaataata	17	10	6	8	1	0	1	0	1	0	0	0	1	0	1	1	1	3	3	1	1	9	7			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:43847849G>T	ENST00000389420.3	-	12	1620	c.1621C>A	c.(1621-1623)Cgt>Agt	p.R541S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R541S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	541	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGCCCATGACGGCAATGCTAT	0.368													8	27					0.00448238	0.00455188	1	0	T	43847849	G	T	43847849	3	4	302	1	0	0	0	0	1	0	0	0	266	1116	39	3	4222	3	ADAMTS20	12	43847849	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	28105451	43847849	90004046	140	54132											
SPRYD3	84926	broad.mit.edu	37	chr12	53470909	53470909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaactcaccttaaagtatCtccatctacaaggatatgtt	13	13	5	10	0	3	1	1	1	2	0	4	2	3	2	2	1	2	2	2	1	7	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:53470909C>T	ENST00000301463.4	-	2	246	c.160G>A	c.(160-162)Gat>Aat	p.D54N	SPRYD3_ENST00000547837.1_Missense_Mutation_p.D91N	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	54	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTTAAAGTATCTCCATCTACA	0.428													22	61					0	0	0	0	T	53470909	C	T	53470909	3	4	302	1	0	0	0	0	1	0	0	0	15199	913	32	2	1208	2	SPRYD3	12	53470909	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	9623060	53470909	80380986	141	54133											
HOXC11	3227	broad.mit.edu	37	chr12	54367025	54367025	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccggcaggagaggagaacGatgtttaactcggtcaacct	12	7	13	9	3	1	2	1	0	0	2	2	5	1	2	2	4	4	2	2	4	3	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:54367025G>A	ENST00000546378.1	+	0	116				HOXC11_ENST00000243082.4_De_novo_Start_InFrame|HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11						endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						AGAGGAGAACGATGTTTAACT	0.592			T	NUP98	AML								6	17					0	0	0	0	A	54367025	G	A	54367025	1	1	302	1	0	0	0	0	0	0	0	0	7360	1073	37	1		1	HOXC11	12	54367025	Translation_Start_Site	SNP	G	TCGA-CV-7406-01A-11D-2078-08	896116	54367025	79484870	142	54134											
STAT6	6778	broad.mit.edu	37	chr12	57492348	57492348	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggccttgatacggggggAtggagtgagagtgtggtggg	8	8	22	3	1	0	3	0	2	0	2	0	6	0	5	1	7	1	0	1	7	1	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:57492348A>G	ENST00000300134.3	-	19	2424	c.2099T>C	c.(2098-2100)aTc>aCc	p.I700T	STAT6_ENST00000538913.2_Missense_Mutation_p.I590T|STAT6_ENST00000537215.2_Missense_Mutation_p.I590T|STAT6_ENST00000556155.1_Missense_Mutation_p.I700T|STAT6_ENST00000543873.2_Missense_Mutation_p.I700T|STAT6_ENST00000454075.3_Missense_Mutation_p.I700T	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	700					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						ATACGGGGGGATGGAGTGAGA	0.547													4	72					0	0	0	0	G	57492348	A	G	57492348	3	3	302	1	0	0	0	0	1	0	0	0	15360	333	12	5	460	5	STAT6	12	57492348	Missense_Mutation	SNP	A	TCGA-CV-7406-01A-11D-2078-08	3125323	57492348	76359547	143	54135											
PIP4K2C	79837	broad.mit.edu	37	chr12	57994655	57994655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcatccacgacatcattcGgggctctgaaccagaggagg	11	6	13	11	2	2	2	1	1	1	1	4	4	3	3	2	5	1	2	2	5	1	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:57994655G>A	ENST00000354947.5	+	8	891	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.R244Q|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R292Q|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R274Q			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	292	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GACATCATTCGGGGCTCTGAA	0.562													71	151					0	0	0	0	A	57994655	G	A	57994655	3	1	302	1	0	0	0	0	1	0	0	0	12010	1116	39	1	905	1	PIP4K2C	12	57994655	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	502307	57994655	75857240	144	54136											
NEDD1	121441	broad.mit.edu	37	chr12	97345265	97345265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagatgattaaacagtttCatatgcaactggtatgtatg	13	14	10	4	0	1	2	1	1	0	1	1	3	1	2	0	2	3	4	0	2	6	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:97345265C>T	ENST00000266742.4	+	15	2206	c.1867C>T	c.(1867-1869)Cat>Tat	p.H623Y	NEDD1_ENST00000429527.2_Missense_Mutation_p.H623Y|NEDD1_ENST00000457368.2_Missense_Mutation_p.H534Y|NEDD1_ENST00000557644.1_Missense_Mutation_p.H630Y|NEDD1_ENST00000411739.2_Missense_Mutation_p.H534Y	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	623					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TAAACAGTTTCATATGCAACT	0.274													10	30					0	0	0	0	T	97345265	C	T	97345265	3	4	302	1	0	0	0	0	1	0	0	0	10379	826	29	2	1942	2	NEDD1	12	97345265	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	39350610	97345265	36506630	145	54137											
TCP11L2	255394	broad.mit.edu	37	chr12	106708240	106708240	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctgtaaatgagaactttCaattgaaacaagaggctctc	14	12	8	7	0	2	3	1	2	1	2	3	4	2	3	0	1	3	3	0	1	6	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:106708240C>T	ENST00000546625.1	+	3	421	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	TCP11L2_ENST00000547153.1_Nonsense_Mutation_p.Q88*|TCP11L2_ENST00000299045.3_Nonsense_Mutation_p.Q88*			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	88										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TGAGAACTTTCAATTGAAACA	0.418													10	44					0	0	0	0	T	106708240	C	T	106708240	4	4	302	1	0	0	0	0	0	1	0	0	15809	827	29	2	268	2	TCP11L2	12	106708240	Nonsense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	9362975	106708240	27143655	146	54138											
MMP17	4326	broad.mit.edu	37	chr12	132325377	132325377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacccactttgacgatgacGaggcctggaccttccgctcc	8	8	9	16	3	0	2	0	2	0	0	2	5	2	3	5	2	0	1	5	2	0	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:132325377G>A	ENST00000360564.1	+	4	784	c.682G>A	c.(682-684)Gag>Aag	p.E228K	MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Missense_Mutation_p.E144K	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	228					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		TGACGATGACGAGGCCTGGAC	0.711													7	21					0	0	0	0	A	132325377	G	A	132325377	3	1	302	1	0	0	0	0	1	0	0	0	9725	1059	37	1	696	1	MMP17	12	132325377	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	25617137	132325377	1526518	147	54139											
STARD13	90627	broad.mit.edu	37	chr13	33684190	33684190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggtgcttccacctccacaGaagccttccacagcttcagc	8	8	9	16	0	1	1	1	0	0	1	4	1	4	1	5	2	4	2	5	2	1	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr13:33684190G>A	ENST00000336934.5	-	12	2983	c.2867C>T	c.(2866-2868)tCt>tTt	p.S956F	STARD13_ENST00000399365.3_Missense_Mutation_p.S838F|STARD13_ENST00000255486.4_Missense_Mutation_p.S948F	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	956	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CACCTCCACAGAAGCCTTCCA	0.562											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	21					0	0	0	0	A	33684190	G	A	33684190	3	1	302	1	0	0	0	0	1	0	0	0	15346	942	33	2	486	2	STARD13	13	33684190	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08		33684190	81485688	148	54140											
HTR2A	3356	broad.mit.edu	37	chr13	47469754	47469754	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctagggacactgccatGatgacgagtatgtttccagc	9	12	10	10	1	1	2	0	2	1	0	3	4	2	3	2	1	2	2	2	1	2	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr13:47469754G>C	ENST00000378688.4	-	1	419	c.288C>G	c.(286-288)atC>atG	p.I96M	HTR2A_ENST00000542664.1_Missense_Mutation_p.I96M|HTR2A_ENST00000543956.1_Intron			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	96					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACACTGCCATGATGACGAGTA	0.458													20	29					0	0	0	0	C	47469754	G	C	47469754	3	2	302	1	0	0	0	0	1	0	0	0	7494	1280	45	2	1139	2	HTR2A	13	47469754	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	13785564	47469754	67700124	149	54141											
PCDH9	5101	broad.mit.edu	37	chr13	67801807	67801807	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaatatgcacctccacttGaccctctttaaacactggcc	10	11	6	14	0	1	1	0	1	1	0	2	2	2	2	4	2	2	1	4	2	4	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr13:67801807G>A	ENST00000544246.1	-	2	1457	c.766C>T	c.(766-768)Caa>Taa	p.Q256*	PCDH9_ENST00000328454.5_Nonsense_Mutation_p.Q256*|PCDH9_ENST00000456367.1_Nonsense_Mutation_p.Q256*|PCDH9_ENST00000377865.2_Nonsense_Mutation_p.Q256*|PCDH9_ENST00000377861.3_Nonsense_Mutation_p.Q256*	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	256	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCTCCACTTGACCCTCTTTA	0.473													24	34					0	0	0	0	A	67801807	G	A	67801807	4	1	302	1	0	0	0	0	0	1	0	0	11589	1299	45	2	2963	2	PCDH9	13	67801807	Nonsense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	20332053	67801807	47368071	150	54142											
TMCO3	55002	broad.mit.edu	37	chr13	114149919	114149919	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgttgggaagaagctTcttctgggtgctgtttcccg	6	13	15	7	1	2	1	0	0	2	1	3	3	3	2	1	3	2	4	1	3	3	4	rs138668953		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr13:114149919T>G	ENST00000434316.2	+	2	382	c.23T>G	c.(22-24)tTc>tGc	p.F8C	TMCO3_ENST00000375391.1_Missense_Mutation_p.F8C|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	8						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GGAAGAAGCTTCTTCTGGGTG	0.612													3	44					0	0	0	0	G	114149919	T	G	114149919	3	3	302	1	0	0	0	0	1	0	0	0	16091	1783	62	5	25	5	TMCO3	13	114149919	Missense_Mutation	SNP	T	TCGA-CV-7406-01A-11D-2078-08	46348112	114149919	1019959	151	54143											
GNPNAT1	64841	broad.mit.edu	37	chr14	53251317	53251317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctgtattctgactccagtCcacttctttgagtagacttg	8	15	8	10	0	2	3	0	2	2	1	4	3	4	3	2	0	1	3	2	0	2	6			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr14:53251317C>T	ENST00000216410.3	-	2	239	c.52G>A	c.(52-54)Gac>Aac	p.D18N	GNPNAT1_ENST00000554230.1_Intron	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	18					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TGACTCCAGTCCACTTCTTTG	0.373													139	15					0	0	0	0	T	53251317	C	T	53251317	3	4	302	1	0	0	0	0	1	0	0	0	6595	855	30	2	522	2	GNPNAT1	14	53251317	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08		53251317	54098223	152	54144											
DIO2	1734	broad.mit.edu	37	chr14	80669404	80669404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaagtcagccactgaggaGaactcttccaccagtttgcg	11	8	11	11	1	2	2	1	1	1	1	3	4	3	3	3	2	3	1	3	2	2	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr14:80669404G>A	ENST00000557125.1	-	2	73	c.74C>T	c.(73-75)tCt>tTt	p.S25F	DIO2_ENST00000438257.4_Silent_p.F150F|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Silent_p.F186F|DIO2_ENST00000557010.1_Silent_p.F150F			Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	0					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCACTGAGGAGAACTCTTCCA	0.557											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	15					0	0	0	0	A	80669404	G	A	80669404	3	1	302	1	0	0	0	0	1	0	0	0	4562	933	33	2	375	2	DIO2	14	80669404	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	27418087	80669404	26680136	153	54145											
GPR65	8477	broad.mit.edu	37	chr14	88477470	88477470	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaaagggagtgcttttctCatgtacatgaatttttacag	11	15	9	6	0	1	1	1	1	1	0	2	2	1	2	0	1	4	3	0	1	4	6			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr14:88477470C>T	ENST00000267549.3	+	2	837	c.279C>T	c.(277-279)ctC>ctT	p.L93L	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	93					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GTGCTTTTCTCATGTACATGA	0.403													52	97					0	0	0	0	T	88477470	C	T	88477470	2	4	302	1	0	0	0	0	0	0	0	1	6755	813	29	2		2	GPR65	14	88477470	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	7808066	88477470	18872070	154	54146											
BTBD7	55727	broad.mit.edu	37	chr14	93709138	93709138	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggaaggggtgcgtctgctGagagcaggagtagaaggtct	9	7	20	5	1	2	2	0	1	2	2	2	5	2	4	0	6	3	3	0	6	3	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr14:93709138G>A	ENST00000334746.5	-	11	3187	c.2880C>T	c.(2878-2880)ctC>ctT	p.L960L	BTBD7_ENST00000554565.1_Silent_p.L609L|BTBD7_ENST00000393170.2_Silent_p.L534L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	960										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGCGTCTGCTGAGAGCAGGAG	0.478													24	34					0	0	0	0	A	93709138	G	A	93709138	2	1	302	1	0	0	0	0	0	0	0	1	1555	1277	45	2		2	BTBD7	14	93709138	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	5231668	93709138	13640402	155	54147											
MGA	23269	broad.mit.edu	37	chr15	42019556	42019556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtgaagggcaaactgctCactggaattaaatctccacg	13	9	9	10	1	2	1	1	1	1	0	3	2	2	2	1	2	2	2	1	2	5	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr15:42019556C>T	ENST00000219905.7	+	10	3790	c.3609C>T	c.(3607-3609)ctC>ctT	p.L1203L	MGA_ENST00000389936.4_Silent_p.L1203L|MGA_ENST00000566586.1_Silent_p.L1203L|MGA_ENST00000570161.1_Silent_p.L1203L|MGA_ENST00000545763.1_Silent_p.L1203L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1203						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GCAAACTGCTCACTGGAATTA	0.403													43	118					0	0	0	0	T	42019556	C	T	42019556	2	4	302	1	0	0	0	0	0	0	0	1	9609	813	29	2		2	MGA	15	42019556	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08		42019556	60511836	156	54148											
NEIL1	79661	broad.mit.edu	37	chr15	75641389	75641389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcagtgcctaccgcatctCagcttcagcccgcggcaagg	8	6	12	15	3	2	0	2	0	1	0	3	1	2	0	3	2	5	4	3	2	2	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr15:75641389C>T	ENST00000564784.1	+	3	772	c.143C>T	c.(142-144)tCa>tTa	p.S48L	NEIL1_ENST00000569035.1_Missense_Mutation_p.S48L|NEIL1_ENST00000355059.4_Missense_Mutation_p.S48L|NEIL1_ENST00000567959.1_Intron			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	48					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TACCGCATCTCAGCTTCAGCC	0.657								Base excision repair (BER), DNA glycosylases					40	18					0	0	0	0	T	75641389	C	T	75641389	3	4	302	1	0	0	0	0	1	0	0	0	10388	838	29	2	145	2	NEIL1	15	75641389	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	33621833	75641389	26890003	157	54149											
TTC23	64927	broad.mit.edu	37	chr15	99758831	99758831	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atccgtgcttcaatttctatCcattcttcctttataattct	8	20	2	11	1	4	0	1	0	3	0	7	0	7	0	3	0	1	1	3	0	4	9			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr15:99758831C>T	ENST00000394132.2	-	8	1360	c.543G>A	c.(541-543)tgG>tgA	p.W181*	TTC23_ENST00000394130.1_Nonsense_Mutation_p.W181*|TTC23_ENST00000558663.1_Nonsense_Mutation_p.W181*|TTC23_ENST00000262074.4_Nonsense_Mutation_p.W181*|TTC23_ENST00000394129.2_Nonsense_Mutation_p.W181*|TTC23_ENST00000394135.3_Nonsense_Mutation_p.W181*|TTC23_ENST00000558613.1_Nonsense_Mutation_p.W181*|TTC23_ENST00000394136.1_Nonsense_Mutation_p.W181*			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	181							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CAATTTCTATCCATTCTTCCT	0.383													90	62					0	0	0	0	T	99758831	C	T	99758831	4	4	302	1	0	0	0	0	0	1	0	0	16786	856	30	2	828	2	TTC23	15	99758831	Nonsense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	24117442	99758831	2772561	158	54150											
ABCA3	21	broad.mit.edu	37	chr16	2376270	2376270	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggaccgtcaccaggaccttCcgcttctggaagagatacaa	12	7	10	12	2	2	1	1	0	1	1	3	5	3	4	4	3	1	1	4	3	3	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr16:2376270C>T	ENST00000301732.5	-	5	760	c.60G>A	c.(58-60)cgG>cgA	p.R20R	ABCA3_ENST00000567910.1_Silent_p.R20R|ABCA3_ENST00000382381.3_Silent_p.R20R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	20					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCAGGACCTTCCGCTTCTGGA	0.567													44	25					0	0	0	0	T	2376270	C	T	2376270	2	4	302	1	0	0	0	0	0	0	0	1	33	842	30	2		2	ABCA3	16	2376270	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08		2376270	87978483	159	54151											
NLRC3	197358	broad.mit.edu	37	chr16	3614473	3614473	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaggcggacgaagtgcctCaccagggtggtcttgcccat	8	7	14	12	2	2	1	1	0	1	1	2	3	2	2	3	4	2	0	3	4	1	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr16:3614473C>T	ENST00000301749.7	-	0	870				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGAAGTGCCTCACCAGGGTGG	0.657													32	13					0	0	0	0	T	3614473	C	T	3614473	1	4	302	0	1	0	0	0	0	0	0	0	10538	813	29	2		2	NLRC3	16	3614473	RNA	SNP	C	TCGA-CV-7406-01A-11D-2078-08	1238203	3614473	86740280	160	54152											
PRR14	78994	broad.mit.edu	37	chr16	30665567	30665567	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagctgagcccatgaggAtagttcgccagccaacgcct	10	6	11	14	2	0	3	0	2	0	1	1	4	0	4	5	1	4	2	5	1	2	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr16:30665567A>G	ENST00000542965.2	+	6	1021	c.565A>G	c.(565-567)Ata>Gta	p.I189V	PRR14_ENST00000300835.4_Missense_Mutation_p.I189V			Q9BWN1	PRR14_HUMAN	proline rich 14	189	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCCCATGAGGATAGTTCGCCA	0.587													15	239					0	0	0	0	G	30665567	A	G	30665567	3	3	302	1	0	0	0	0	1	0	0	0	12666	333	12	5	587	5	PRR14	16	30665567	Missense_Mutation	SNP	A	TCGA-CV-7406-01A-11D-2078-08	27051094	30665567	59689186	161	54153											
CDH16	1014	broad.mit.edu	37	chr16	66945110	66945110	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggcctccacaagcacCgtgtaggtgtccccaggctg	6	8	12	15	1	0	0	0	0	0	0	3	0	3	0	6	3	1	3	6	3	2	1	rs148829305		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr16:66945110C>G	ENST00000299752.4	-	14	2092	c.1899G>C	c.(1897-1899)acG>acC	p.T633T	CDH16_ENST00000568632.1_Silent_p.T536T|CDH16_ENST00000570262.1_Silent_p.T553T|CDH16_ENST00000394055.3_Silent_p.T633T|CDH16_ENST00000565796.1_Silent_p.T633T	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	633	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCACAAGCACCGTGTAGGTGT	0.612													9	18					0	0	0	0	G	66945110	C	G	66945110	2	3	302	1	0	0	0	0	0	0	0	1	3130	639	23	3		3	CDH16	16	66945110	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	36279543	66945110	23409643	162	54154											
KIAA0513	9764	broad.mit.edu	37	chr16	85106591	85106591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtgcagtcttttgcaGtggtgctgttcgagtaagta	6	14	14	7	1	1	0	0	0	1	0	2	1	1	0	1	2	3	6	1	2	2	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr16:85106591G>T	ENST00000566428.1	+	4	1121	c.490G>T	c.(490-492)Gtg>Ttg	p.V164L	KIAA0513_ENST00000567328.1_Missense_Mutation_p.V164L|KIAA0513_ENST00000258180.3_Missense_Mutation_p.V164L|KIAA0513_ENST00000538274.1_Missense_Mutation_p.V164L			O60268	K0513_HUMAN	KIAA0513	164						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GTCTTTTGCAGTGGTGCTGTT	0.567													20	65					8.04996e-18	8.64381e-18	1	0	T	85106591	G	T	85106591	3	4	302	1	0	0	0	0	1	0	0	0	8232	1029	36	4	500	4	KIAA0513	16	85106591	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	18161481	85106591	5248162	163	54155											
MED11	400569	broad.mit.edu	37	chr17	4635163	4635163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgcttcagtgcaacacgtgGaggcggagctgtcagctcag	8	7	14	12	3	3	0	3	0	0	0	3	2	3	2	1	3	4	4	1	3	1	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:4635163G>A	ENST00000293777.5	+	2	234	c.178G>A	c.(178-180)Gag>Aag	p.E60K	RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.E60K|MED11_ENST00000573708.1_Missense_Mutation_p.E60K	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	60					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(2)	4						GCAACACGTGGAGGCGGAGCT	0.607											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	20					0	0	0	0	A	4635163	G	A	4635163	3	1	302	1	0	0	0	0	1	0	0	0	9496	1175	41	2	184	2	MED11	17	4635163	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08		4635163	76560047	164	54156											
CAMTA2	23125	broad.mit.edu	37	chr17	4889259	4889259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcttggggagaaagatCttcaggtggtggctgttttc	7	14	14	6	0	3	2	1	0	2	2	4	3	3	2	0	5	1	3	0	5	1	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:4889259C>A	ENST00000361571.5	-	3	531	c.120G>T	c.(118-120)aaG>aaT	p.K40N	CAMTA2_ENST00000414043.3_Missense_Mutation_p.K40N|CAMTA2_ENST00000572543.1_Missense_Mutation_p.K17N|CAMTA2_ENST00000358183.4_Missense_Mutation_p.K17N|CAMTA2_ENST00000381311.5_Missense_Mutation_p.K19N|CAMTA2_ENST00000348066.3_Missense_Mutation_p.K17N	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	17					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGAGAAAGATCTTCAGGTGGT	0.537													26	41					4.59853e-10	4.83861e-10	1	0	A	4889259	C	A	4889259	3	1	302	1	0	0	0	0	1	0	0	0	2639	912	32	2	3691	2	CAMTA2	17	4889259	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	254096	4889259	76305951	165	54157											
NLRP1	22861	broad.mit.edu	37	chr17	5440230	5440230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggccctcagttcctgcctCatctcatcactcagagttgt	7	12	8	14	0	5	1	5	0	1	1	7	1	6	1	3	1	1	2	3	1	0	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:5440230C>T	ENST00000345221.3	-	8	3455	c.2901G>A	c.(2899-2901)atG>atA	p.M967I	NLRP1_ENST00000572272.1_Missense_Mutation_p.M967I|NLRP1_ENST00000354411.3_Intron|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000262467.5_Missense_Mutation_p.M967I|NLRP1_ENST00000269280.4_Missense_Mutation_p.M967I	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	967					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTTCCTGCCTCATCTCATCAC	0.622													14	26					0	0	0	0	T	5440230	C	T	5440230	3	4	302	1	0	0	0	0	1	0	0	0	10541	826	29	2	1635	2	NLRP1	17	5440230	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	550971	5440230	75754980	166	54158											
SLC13A5	284111	broad.mit.edu	37	chr17	6599185	6599185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggccccagcttccggtaCtcctcctgcagcaccttgag	7	8	10	16	1	0	1	0	1	0	0	3	1	3	1	6	2	4	4	6	2	2	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:6599185C>A	ENST00000433363.2	-	7	1148	c.915G>T	c.(913-915)gaG>gaT	p.E305D	SLC13A5_ENST00000293800.6_Missense_Mutation_p.E288D|SLC13A5_ENST00000381074.4_Missense_Mutation_p.E262D|SLC13A5_ENST00000573648.1_Missense_Mutation_p.E305D	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	305						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GCTTCCGGTACTCCTCCTGCA	0.557													33	84					3.21399e-22	3.49405e-22	1	0	A	6599185	C	A	6599185	3	1	302	1	0	0	0	0	1	0	0	0	14483	564	20	4	815	4	SLC13A5	17	6599185	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	1158955	6599185	74596025	167	54159											
DNAH2	146754	broad.mit.edu	37	chr17	7734149	7734149	+	Frame_Shift_Del	DEL	T	T	-																															tgtgaccagtctctatcaacTcccttccaccggtgaggggg																										TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:7734149delT	ENST00000572933.1	+	79	13679	c.12219delT	c.(12217-12219)acfs	p.T4073fs	DNAH2_ENST00000389173.2_Frame_Shift_Del_p.T4073fs			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4073					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCTATCAACTCCCTTCCACC	0.567													13	21	---	---	---	---					-	7734149	T	-	7734149	7	5	302	1	0	1	0	1	0	0	0	0	4639	1538	54	0	12529	0	DNAH2	17	7734149	Frame_Shift_Del	DEL	T	TCGA-CV-7406-01A-11D-2078-08	1134964	7734149	73461061	168	54160											
ALOXE3	59344	broad.mit.edu	37	chr17	8006700	8006700	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttgttacagctgatgtTcacttcagggagggtgtcta	8	13	14	6	0	3	1	2	1	1	0	3	3	3	2	0	3	2	4	0	3	2	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:8006700T>C	ENST00000380149.1	-	14	2395	c.2365A>G	c.(2365-2367)Aac>Gac	p.N789D	ALOXE3_ENST00000448843.2_Missense_Mutation_p.N633D|ALOXE3_ENST00000318227.3_Missense_Mutation_p.N765D			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	633					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAGCTGATGTTCACTTCAGGG	0.557													26	44					0	0	0	0	C	8006700	T	C	8006700	3	2	302	1	0	0	0	0	1	0	0	0	542	1783	62	5	246	5	ALOXE3	17	8006700	Missense_Mutation	SNP	T	TCGA-CV-7406-01A-11D-2078-08	272551	8006700	73188510	169	54161											
MYH8	4626	broad.mit.edu	37	chr17	10301955	10301955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtgccagggcgttcttGgcctgcagaagtagcagttc	6	10	15	10	2	1	1	0	0	1	1	2	1	1	1	2	2	3	5	2	2	2	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:10301955G>A	ENST00000403437.2	-	30	4078	c.3984C>T	c.(3982-3984)gcC>gcT	p.A1328A	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1328					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGGCGTTCTTGGCCTGCAGAA	0.507									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				30	45					0	0	0	0	A	10301955	G	A	10301955	2	1	302	1	0	0	0	0	0	0	0	1	10111	1335	47	4		4	MYH8	17	10301955	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	2295255	10301955	70893255	170	54162											
DNAH9	1770	broad.mit.edu	37	chr17	11696943	11696943	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaggactttgatctttttGataaaatccagacagaagtg	16	12	8	5	0	1	4	0	2	1	2	2	5	2	5	1	1	0	0	1	1	5	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:11696943G>C	ENST00000262442.3	+	42	8253	c.8185G>C	c.(8185-8187)Gat>Cat	p.D2729H	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2729H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2729					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATCTTTTTGATAAAATCCA	0.323													13	36					0	0	0	0	C	11696943	G	C	11696943	3	2	302	1	0	0	0	0	1	0	0	0	4644	1290	45	2	8351	2	DNAH9	17	11696943	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1394988	11696943	69498267	171	54163											
LRRC48	83450	broad.mit.edu	37	chr17	17891328	17891328	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgagcttgttcaacaaccgGatctccaagatcgactccct	10	10	7	14	2	2	2	1	1	1	1	5	4	3	3	3	1	3	2	3	1	3	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:17891328G>A	ENST00000313838.8	+	6	739	c.360G>A	c.(358-360)cgG>cgA	p.R120R	LRRC48_ENST00000584166.1_Silent_p.R120R|LRRC48_ENST00000399187.1_Silent_p.R120R|LRRC48_ENST00000411504.2_Silent_p.R120R|LRRC48_ENST00000399182.1_Silent_p.R120R	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	120						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCAACAACCGGATCTCCAAGA	0.557													4	45					0	0	0	0	A	17891328	G	A	17891328	2	1	302	1	0	0	0	0	0	0	0	1	9069	1161	41	2		2	LRRC48	17	17891328	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	6194385	17891328	63303882	172	54164											
PTRF	284119	broad.mit.edu	37	chr17	40574759	40574759	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcgcacggtcttcacgttGacgctgaccttgcgcacctt	5	10	10	16	6	2	2	1	2	1	0	2	2	2	2	3	1	1	4	3	1	0	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:40574759G>A	ENST00000357037.5	-	1	776	c.357C>T	c.(355-357)gtC>gtT	p.V119V		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	119					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TCTTCACGTTGACGCTGACCT	0.642													3	12					0	0	0	0	A	40574759	G	A	40574759	2	1	302	1	0	0	0	0	0	0	0	1	12897	1277	45	2		2	PTRF	17	40574759	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	22683431	40574759	40620451	173	54165											
TUBG2	27175	broad.mit.edu	37	chr17	40812702	40812702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgacatcatagaccgagaaGcagatggaagtgacagtttg	14	9	12	6	1	1	5	1	2	0	3	1	7	1	6	1	1	1	2	1	1	3	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:40812702G>A	ENST00000251412.7	+	4	575	c.376G>A	c.(376-378)Gca>Aca	p.A126T		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	126					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AGACCGAGAAGCAGATGGAAG	0.507													10	11					0	0	0	0	A	40812702	G	A	40812702	3	1	302	1	0	0	0	0	1	0	0	0	16861	971	34	4	390	4	TUBG2	17	40812702	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	237943	40812702	40382508	174	54166											
DBF4B	80174	broad.mit.edu	37	chr17	42786685	42786685	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctcaggagacgattgcctCgagctggagagttccatggc	8	10	13	10	2	1	2	1	0	1	2	4	6	2	2	2	3	2	2	2	3	0	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:42786685C>T	ENST00000315005.3	+	2	171	c.33C>T	c.(31-33)ctC>ctT	p.L11L	DBF4B_ENST00000398338.3_Silent_p.L11L|DBF4B_ENST00000393547.2_Silent_p.L11L|DBF4B_ENST00000526915.1_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	11					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACGATTGCCTCGAGCTGGAGA	0.562													102	244					0	0	0	0	T	42786685	C	T	42786685	2	4	302	1	0	0	0	0	0	0	0	1	4282	871	31	1		1	DBF4B	17	42786685	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	1973983	42786685	38408525	175	54167											
TMC8	147138	broad.mit.edu	37	chr17	76134712	76134712	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactcagcaccctggcaagtGgtcccggagctggtggccct	6	8	13	14	1	1	0	1	0	0	0	2	1	2	1	3	5	3	3	3	5	2	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:76134712G>A	ENST00000318430.5	+	14	2096	c.1722G>A	c.(1720-1722)gtG>gtA	p.V574V	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Silent_p.V351V	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	574						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CCTGGCAAGTGGTCCCGGAGC	0.657													27	75					0	0	0	0	A	76134712	G	A	76134712	2	1	302	1	0	0	0	0	0	0	0	1	16085	1335	47	4		4	TMC8	17	76134712	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	33348027	76134712	5060498	176	54168											
RPTOR	57521	broad.mit.edu	37	chr17	78882729	78882729	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacagcatcgcctacaaGgtacgtgccgggcgctcccc	8	6	10	17	4	1	0	1	0	0	0	3	0	2	0	4	2	5	3	4	2	4	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:78882729G>A	ENST00000306801.3	+	21	2882	c.2520_splice	c.e21+1	p.K840_splice	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Splice_Site_p.K682_splice	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	840					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCGCCTACAAGGTACGTGCCG	0.587													35	103					0	0	0	0	A	78882729	G	A	78882729	5	1	302	1	0	0	0	0	0	0	1	0	13750	1014	35	4	2602	4	RPTOR	17	78882729	Splice_Site	SNP	G	TCGA-CV-7406-01A-11D-2078-08	2748017	78882729	2312481	177	54169											
TBCD	6904	broad.mit.edu	37	chr17	80863819	80863819	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtctcttgcagtcttcccGaggctgctgtccatgacact	5	13	9	14	1	2	1	0	1	2	0	5	2	4	1	2	1	2	3	2	1	0	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:80863819G>A	ENST00000355528.4	+	20	1942	c.1812G>A	c.(1810-1812)ccG>ccA	p.P604P	TBCD_ENST00000539345.2_Silent_p.P604P|TBCD_ENST00000397466.2_Silent_p.P218P	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	604					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CAGTCTTCCCGAGGCTGCTGT	0.607													8	10					0	0	0	0	A	80863819	G	A	80863819	2	1	302	1	0	0	0	0	0	0	0	1	15727	1045	37	1		1	TBCD	17	80863819	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1981090	80863819	331391	178	54170											
USP14	9097	broad.mit.edu	37	chr18	202939	202939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagaaatgccttgtatatCaaatctgtaagttatgcagt	15	13	7	6	0	2	1	1	0	1	1	2	1	2	1	1	0	2	4	1	0	7	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:202939C>T	ENST00000261601.6	+	11	1027	c.936C>T	c.(934-936)atC>atT	p.I312I	USP14_ENST00000400266.3_Silent_p.I301I|USP14_ENST00000582707.1_Silent_p.I277I|USP14_ENST00000383589.2_Silent_p.I266I	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	312					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CCTTGTATATCAAATCTGTAA	0.333													11	33					0	0	0	0	T	202939	C	T	202939	2	4	302	1	0	0	0	0	0	0	0	1	17141	816	29	2		2	USP14	18	202939	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08		202939	77874309	179	54171											
DLGAP1	9229	broad.mit.edu	37	chr18	3880020	3880020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcgagtcacaggccgagtCgcaggtgaccccgtggtgat	8	6	15	12	4	1	2	1	2	0	0	2	4	1	2	3	3	1	1	3	3	0	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:3880020C>T	ENST00000315677.3	-	4	644	c.49G>A	c.(49-51)Gac>Aac	p.D17N	DLGAP1_ENST00000581527.1_Missense_Mutation_p.D17N|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D17N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D17N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	17					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CAGGCCGAGTCGCAGGTGACC	0.662													15	28					0	0	0	0	T	3880020	C	T	3880020	3	4	302	1	0	0	0	0	1	0	0	0	4596	884	31	1	2979	1	DLGAP1	18	3880020	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	3677081	3880020	74197228	180	54172											
ASXL3	80816	broad.mit.edu	37	chr18	31325297	31325297	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcgagaaaaccaccccaaaAagagagtagctaggactgta	18	4	10	9	1	0	2	0	0	0	2	0	5	0	3	3	1	3	3	3	1	7	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:31325297A>C	ENST00000269197.5	+	12	5485	c.5485A>C	c.(5485-5487)Aag>Cag	p.K1829Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1829					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCACCCCAAAAAGAGAGTAGC	0.483													44	173					0	0	0	0	C	31325297	A	C	31325297	3	2	302	1	0	0	0	0	1	0	0	0	1072	15	1	5	5531	5	ASXL3	18	31325297	Missense_Mutation	SNP	A	TCGA-CV-7406-01A-11D-2078-08	27445277	31325297	46751951	181	54173											
SMAD4	4089	broad.mit.edu	37	chr18	48584814	48584814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acccgcctatgccgccccatCccggacattactgtaagctc	8	8	7	18	3	0	0	0	0	0	0	2	1	1	1	6	1	3	2	6	1	3	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:48584814C>T	ENST00000342988.3	+	7	1430	c.892C>T	c.(892-894)Ccc>Tcc	p.P298S	SMAD4_ENST00000398417.2_Missense_Mutation_p.P298S|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	298	SAD.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GCCGCCCCATCCCGGACATTA	0.428													20	79					0	0	0	0	T	48584814	C	T	48584814	3	4	302	1	0	0	0	0	1	0	0	0	14848	855	30	2	914	2	SMAD4	18	48584814	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	17259517	48584814	29492434	182	54174											
FECH	2235	broad.mit.edu	37	chr18	55221509	55221509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacctccttggctaaaacttGagagtactcgatgtccagct	10	12	8	11	1	0	1	0	1	0	1	3	3	2	1	3	1	4	3	3	1	4	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:55221509G>C	ENST00000262093.5	-	9	1211	c.1060C>G	c.(1060-1062)Caa>Gaa	p.Q354E	FECH_ENST00000382873.3_Missense_Mutation_p.Q360E	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	354					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	p.Q360E(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GCTAAAACTTGAGAGTACTCG	0.413													55	224					0	0	0	0	C	55221509	G	C	55221509	3	2	302	1	0	0	0	0	1	0	0	0	5853	1299	45	2	223	2	FECH	18	55221509	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	6636695	55221509	22855739	183	54175											
CCBE1	147372	broad.mit.edu	37	chr18	57147439	57147439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgggatgcattgtccaaGaacaaatttatatcctttgc	11	15	7	8	0	1	1	0	0	1	1	3	2	3	2	2	1	3	1	2	1	5	6			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:57147439G>A	ENST00000439986.4	-	3	281	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	82					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CATTGTCCAAGAACAAATTTA	0.284													27	24					0	0	0	0	A	57147439	G	A	57147439	3	1	302	1	0	0	0	0	1	0	0	0	2756	942	33	2	1012	2	CCBE1	18	57147439	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1925930	57147439	20929809	184	54176											
SERPINB12	89777	broad.mit.edu	37	chr18	61234050	61234050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtcccaatttgtacttgTcaaaaattatccacaaaacc	16	11	3	11	0	1	0	1	0	0	0	3	0	3	0	3	0	2	1	3	0	8	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:61234050T>C	ENST00000382768.1	+	7	1084	c.1084T>C	c.(1084-1086)Tca>Cca	p.S362P	SERPINB12_ENST00000269491.1_Missense_Mutation_p.S342P			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	342					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTGTACTTGTCAAAAATTAT	0.448													32	136					0	0	0	0	C	61234050	T	C	61234050	3	2	302	1	0	0	0	0	1	0	0	0	14186	1667	58	5	1050	5	SERPINB12	18	61234050	Missense_Mutation	SNP	T	TCGA-CV-7406-01A-11D-2078-08	4086611	61234050	16843198	185	54177											
SERPINB2	5055	broad.mit.edu	37	chr18	61562580	61562581	+	Frame_Shift_Del	DEL	AG	AG	-																															cagctgtgggttcatgcagcAgatccagaagggtagttatc																								rs149564761	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:61562580_61562581delAG	ENST00000457692.1	+	4	584_585	c.251_252delAG	c.(250-252)cfs	p.Q84fs	SERPINB2_ENST00000299502.4_Frame_Shift_Del_p.Q84fs|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	84					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTCATGCAGCAGATCCAGAAGG	0.431													14	229	---	---	---	---					-	61562581	AG	-	61562580	7	5	302	1	0	1	0	1	0	0	0	0	14188	188	7	0	257	0	SERPINB2	18	61562580	Frame_Shift_Del	DEL	AG	TCGA-CV-7406-01A-11D-2078-08	328530	61562580	16514668	186	54178											
CREB3L3	84699	broad.mit.edu	37	chr19	4171739	4171739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccccaggaccccgacccGaggctgacacaacccgagaa	12	1	11	17	3	0	2	0	1	0	1	0	6	0	3	6	3	1	1	6	3	2	0	rs142789769		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:4171739G>A	ENST00000078445.2	+	10	1306	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000602257.1_Missense_Mutation_p.E385K|CREB3L3_ENST00000595923.1_Missense_Mutation_p.E386K|CREB3L3_ENST00000252587.3_Silent_p.P275P	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	387					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCCGACCCGAGGCTGACAC	0.632													42	76					0	0	0	0	A	4171739	G	A	4171739	3	1	302	1	0	0	0	0	1	0	0	0	3888	1059	37	1	1197	1	CREB3L3	19	4171739	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08		4171739	54957244	187	54179											
MYO1F	4542	broad.mit.edu	37	chr19	8619446	8619446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagatgtgcgggggattctCatactgggcctggcagggga	7	9	18	7	1	1	1	1	0	1	1	2	3	1	3	1	6	2	2	1	6	2	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:8619446C>T	ENST00000338257.8	-	4	508	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	81	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGGGATTCTCATACTGGGCC	0.617													23	47					0	0	0	0	T	8619446	C	T	8619446	3	4	302	1	0	0	0	0	1	0	0	0	10143	835	29	2	3155	2	MYO1F	19	8619446	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	4447707	8619446	50509537	188	54180											
MUC16	94025	broad.mit.edu	37	chr19	9024166	9024166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagggaggatggagtccctGaggttctgagatccactgtg	9	9	16	7	0	1	3	0	2	1	2	3	7	3	6	2	4	0	1	2	4	0	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:9024166G>A	ENST00000397910.4	-	18	37309	c.37106C>T	c.(37105-37107)tCa>tTa	p.S12369L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12371					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						TGGAGTCCCTGAGGTTCTGAG	0.473													5	14					0	0	0	0	A	9024166	G	A	9024166	3	1	302	1	0	0	0	0	1	0	0	0	10043	1294	45	2	6685	2	MUC16	19	9024166	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	404720	9024166	50104817	189	54181											
MUC16	94025	broad.mit.edu	37	chr19	9056817	9056817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaggccagtctggggatGatgtttttgcagaagaggtg	8	11	17	5	0	1	3	0	1	1	2	1	5	1	5	1	5	1	2	1	5	1	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:9056817G>A	ENST00000397910.4	-	3	30832	c.30629C>T	c.(30628-30630)tCa>tTa	p.S10210L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10212	Ser-rich.|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						GTCTGGGGATGATGTTTTTGC	0.468													11	48					0	0	0	0	A	9056817	G	A	9056817	3	1	302	1	0	0	0	0	1	0	0	0	10043	1294	45	2	13222	2	MUC16	19	9056817	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	32651	9056817	50072166	190	54182											
SMARCA4	6597	broad.mit.edu	37	chr19	11135091	11135091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagggcgtgctgctgactGatggctccgagaaggacaag	10	6	15	10	2	0	3	0	2	0	1	1	5	1	4	2	3	2	3	2	3	3	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:11135091G>A	ENST00000358026.2	+	21	3342	c.3058G>A	c.(3058-3060)Gat>Aat	p.D1020N	SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1020N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1020N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1020N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1020N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1020N|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1020N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1020N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1020N	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1020					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCTGACTGATGGCTCCGA	0.627			"F, N, Mis"		NSCLC								15	26					0	0	0	0	A	11135091	G	A	11135091	3	1	302	1	0	0	0	0	1	0	0	0	14858	1290	45	2	3136	2	SMARCA4	19	11135091	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	2078274	11135091	47993892	191	54183											
ZNF737	100129842	broad.mit.edu	37	chr19	20728762	20728762	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctggccaaagatctcGggcaaaatgagaacacgtaa	14	7	10	10	2	2	2	0	1	2	2	3	3	2	2	1	2	2	3	1	2	5	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:20728762G>A	ENST00000427401.4	-	4	341	c.247C>T	c.(247-249)Cga>Tga	p.R83*		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	83					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CAAAGATCTCGGGCAAAATGA	0.328													3	20					0	0	0	0	A	20728762	G	A	20728762	4	1	302	1	0	0	0	0	0	1	0	0	18220	1124	39	1	1367	1	ZNF737	19	20728762	Nonsense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	9593671	20728762	38400221	192	54184											
TSHZ3	57616	broad.mit.edu	37	chr19	31767646	31767646	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acggtgacttggtttgtgctAtctgactgttaatctgttcg	6	17	11	7	2	2	2	0	2	2	0	3	2	2	2	0	2	1	4	0	2	2	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:31767646A>G	ENST00000240587.4	-	2	3380	c.3053T>C	c.(3052-3054)aTa>aCa	p.I1018T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1018					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTTTGTGCTATCTGACTGTT	0.502													17	42					0	0	0	0	G	31767646	A	G	31767646	3	3	302	1	0	0	0	0	1	0	0	0	16720	449	16	5	196	5	TSHZ3	19	31767646	Missense_Mutation	SNP	A	TCGA-CV-7406-01A-11D-2078-08	11038884	31767646	27361337	193	54185											
FCGBP	8857	broad.mit.edu	37	chr19	40354269	40354269	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacatccctcaccatggggaGaagtcctgcgctctccattt	8	11	8	14	1	2	1	1	0	1	1	5	2	4	1	4	2	2	1	4	2	2	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:40354269G>A	ENST00000221347.6	-	35	16207	c.16200C>T	c.(16198-16200)ttC>ttT	p.F5400F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5400	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACCATGGGGAGAAGTCCTGCG	0.557													13	61					0	0	0	0	A	40354269	G	A	40354269	2	1	302	1	0	0	0	0	0	0	0	1	5823	933	33	2		2	FCGBP	19	40354269	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	8586623	40354269	18774714	194	54186											
CEACAM5	1048	broad.mit.edu	37	chr19	42221507	42221507	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaaataatcagagcctcccGgtcagtcccaggctgcagct	10	8	10	13	1	2	1	2	0	0	1	4	1	4	1	3	2	3	4	3	2	3	2	rs149933160		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:42221507G>A	ENST00000221992.6	+	5	1206	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	CEACAM5_ENST00000398599.4_Silent_p.P363P|CEACAM5_ENST00000405816.1_Silent_p.P364P|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	364	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AGAGCCTCCCGGTCAGTCCCA	0.512													29	159					0	0	0	0	A	42221507	G	A	42221507	2	1	302	1	0	0	0	0	0	0	0	1	3224	1103	39	1		1	CEACAM5	19	42221507	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1867238	42221507	16907476	195	54187											
GRIK5	2901	broad.mit.edu	37	chr19	42510941	42510941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggccgtgtaggaggagatGatgatcaaggtgaaggccca	11	8	16	6	1	1	4	1	3	0	1	1	6	1	5	2	5	0	1	2	5	3	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:42510941G>A	ENST00000262895.3	-	15	1892	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	GRIK5_ENST00000593562.1_Silent_p.I631I|GRIK5_ENST00000301218.4_Silent_p.I631I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	631						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	AGGAGGAGATGATGATCAAGG	0.647													8	19					0	0	0	0	A	42510941	G	A	42510941	2	1	302	1	0	0	0	0	0	0	0	1	6827	1280	45	2		2	GRIK5	19	42510941	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	289434	42510941	16618042	196	54188											
IRGC	56269	broad.mit.edu	37	chr19	44222839	44222839	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccaggccgcctctcacctCcaggagctgctggcctccac	5	6	9	21	1	1	0	1	0	1	0	4	1	3	1	8	3	2	2	8	3	0	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:44222839C>A	ENST00000244314.5	+	2	328	c.129C>A	c.(127-129)ctC>ctA	p.L43L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	43						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCTCTCACCTCCAGGAGCTGC	0.667													34	48					6.53348e-20	7.04432e-20	1	0	A	44222839	C	A	44222839	2	1	302	1	0	0	0	0	0	0	0	1	7891	842	30	2		2	IRGC	19	44222839	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	1711898	44222839	14906144	197	54189											
MARK4	57787	broad.mit.edu	37	chr19	45769536	45769536	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatattgtacacagggacctGaaggtaagcccccgacccgc	12	6	10	13	2	0	1	0	1	0	0	0	3	0	2	4	2	2	2	4	2	5	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:45769536G>A	ENST00000300843.4	+	7	843	c.546G>A	c.(544-546)ctG>ctA	p.L182L	MARK4_ENST00000262891.4_Silent_p.L182L	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	182	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACAGGGACCTGAAGGTAAGCC	0.562													61	76					0	0	0	0	A	45769536	G	A	45769536	2	1	302	1	0	0	0	0	0	0	0	1	9384	1277	45	2		2	MARK4	19	45769536	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1546697	45769536	13359447	198	54190											
ZNF528	84436	broad.mit.edu	37	chr19	52919487	52919487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccattttctaatccatagtgGagagaaaccttatgaatgta	14	13	7	7	0	1	2	0	1	1	1	2	4	2	3	3	1	1	1	3	1	6	6			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:52919487G>A	ENST00000360465.3	+	7	1808	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATCCATAGTGGAGAGAAACCT	0.378													20	76					0	0	0	0	A	52919487	G	A	52919487	3	1	302	1	0	0	0	0	1	0	0	0	18064	1174	41	2	1396	2	ZNF528	19	52919487	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	7149951	52919487	6209496	199	54191											
MBOAT7	79143	broad.mit.edu	37	chr19	54677887	54677887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagatggaggcccagtaccGaagggtgtcggccaaggaga	11	5	17	8	2	0	2	0	0	0	2	1	5	0	3	3	5	1	2	3	5	4	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:54677887G>A	ENST00000245615.1	-	8	1750	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	MBOAT7_ENST00000431666.2_Missense_Mutation_p.R351W|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R351W	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	424					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCAGTACCGAAGGGTGTCG	0.647													17	102					0	0	0	0	A	54677887	G	A	54677887	3	1	302	1	0	0	0	0	1	0	0	0	9427	1057	37	1	152	1	MBOAT7	19	54677887	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1758400	54677887	4451096	200	54192											
LILRA5	353514	broad.mit.edu	37	chr19	54819017	54819017	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttgttttgtgacggactGaggttatcagctgctcctga	7	14	12	8	1	1	3	1	3	0	0	2	5	2	4	1	2	2	4	1	2	1	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:54819017G>C	ENST00000301219.3	-	6	848	c.729C>G	c.(727-729)ctC>ctG	p.L243L	LILRA5_ENST00000346508.3_Silent_p.L231L	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	243					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGACGGACTGAGGTTATCAG	0.507													10	42					0	0	0	0	C	54819017	G	C	54819017	2	2	302	1	0	0	0	0	0	0	0	1	8842	1277	45	2		2	LILRA5	19	54819017	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	141130	54819017	4309966	201	54193											
NLRP13	126204	broad.mit.edu	37	chr19	56422029	56422029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcaggtctagctcatgcaGattctcatttgtgaccaacg	10	12	8	11	1	4	2	3	1	2	1	5	2	4	2	1	1	3	2	1	1	2	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:56422029G>C	ENST00000588751.1	-	6	2206	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	NLRP13_ENST00000342929.3_Missense_Mutation_p.L728V			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	728							ATP binding	p.L728M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGCTCATGCAGATTCTCATTT	0.453													32	97					0	0	0	0	C	56422029	G	C	56422029	3	2	302	1	0	0	0	0	1	0	0	0	10545	933	33	2	971	2	NLRP13	19	56422029	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	1603012	56422029	2706954	202	54194											
ZNF667	63934	broad.mit.edu	37	chr19	56954105	56954105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggtctcacatttagaccCcgagtctgaaagacataaag	13	10	8	10	1	2	3	1	1	2	2	3	4	2	3	2	1	0	0	2	1	4	4	rs138160651	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:56954105C>A	ENST00000504904.3	-	7	978	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	ZNF667_ENST00000342634.3_Missense_Mutation_p.G215W|ZNF667_ENST00000292069.6_Missense_Mutation_p.G87W|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CATTTAGACCCCGAGTCTGAA	0.348													15	77					2.23348e-06	2.31294e-06	1	0	A	56954105	C	A	56954105	3	1	302	1	0	0	0	0	1	0	0	0	18169	623	22	4	1577	4	ZNF667	19	56954105	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	532076	56954105	2174878	203	54195											
ZNF71	58491	broad.mit.edu	37	chr19	57133429	57133429	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagaacatgcacctcatCgtgcaccagcgcacgcacac	12	4	8	17	3	1	1	1	0	0	1	2	1	1	1	3	0	5	4	3	0	1	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:57133429C>T	ENST00000328070.6	+	3	1008	c.774C>T	c.(772-774)atC>atT	p.I258I		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	258						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGCACCTCATCGTGCACCAGC	0.662													16	48					0	0	0	0	T	57133429	C	T	57133429	2	4	302	1	0	0	0	0	0	0	0	1	18209	874	31	1		1	ZNF71	19	57133429	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	179324	57133429	1995554	204	54196											
TRIB3	57761	broad.mit.edu	37	chr20	372179	372179	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcacggtctggtcctGcgtgatctcaagctgtgtcg	6	10	12	13	3	2	1	1	1	2	0	5	1	3	1	2	2	3	2	2	2	1	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr20:372179G>A	ENST00000217233.3	+	3	1093	c.540G>A	c.(538-540)ctG>ctA	p.L180L	TRIB3_ENST00000422053.2_Silent_p.L207L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	180	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GTCTGGTCCTGCGTGATCTCA	0.637													8	27					0	0	0	0	A	372179	G	A	372179	2	1	302	1	0	0	0	0	0	0	0	1	16579	1306	46	4		4	TRIB3	20	372179	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08		372179	62653341	205	54197											
C20orf26	26074	broad.mit.edu	37	chr20	20243630	20243630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacagaggctgatattagtCaacacctgacaaacagggag	15	7	10	9	0	1	3	1	2	0	1	1	4	1	4	1	2	3	1	1	2	5	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr20:20243630C>G	ENST00000245957.5	+	21	2435	c.2359C>G	c.(2359-2361)Caa>Gaa	p.Q787E	C20orf26_ENST00000389656.3_Missense_Mutation_p.Q143E|RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377309.2_Missense_Mutation_p.Q143E|C20orf26_ENST00000377293.1_Missense_Mutation_p.Q143E	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	787										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGATATTAGTCAACACCTGAC	0.443													12	31					0	0	0	0	G	20243630	C	G	20243630	3	3	302	1	0	0	0	0	1	0	0	0	2126	827	29	2	2469	2	C20orf26	20	20243630	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	19871451	20243630	42781890	206	54198											
GINS1	9837	broad.mit.edu	37	chr20	25405913	25405913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcactgggaggagatgaaGgtttggacattacacaggat	12	9	15	5	0	1	2	1	1	0	1	1	6	1	5	0	6	1	1	0	6	2	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr20:25405913G>A	ENST00000262460.4	+	5	491	c.397G>A	c.(397-399)Ggt>Agt	p.G133S	GINS1_ENST00000429262.2_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	133					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		p.G133R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						AGGAGATGAAGGTTTGGACAT	0.313													3	38					0	0	0	0	A	25405913	G	A	25405913	3	1	302	1	0	0	0	0	1	0	0	0	6438	1000	35	4	415	4	GINS1	20	25405913	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	5162283	25405913	37619607	207	54199											
RBL1	5933	broad.mit.edu	37	chr20	35668562	35668562	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgttgaacctacctcttcGaagactcccactgtcagttc	10	12	6	13	1	2	2	1	1	1	1	5	3	3	2	3	0	2	2	3	0	4	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr20:35668562G>A	ENST00000373664.3	-	14	1963	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	RBL1_ENST00000344359.3_Nonsense_Mutation_p.R633*	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	633	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTACCTCTTCGAAGACTCCCA	0.413													33	83					0	0	0	0	A	35668562	G	A	35668562	4	1	302	1	0	0	0	0	0	1	0	0	13191	1066	37	1	1354	1	RBL1	20	35668562	Nonsense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	10262649	35668562	27356958	208	54200											
SLC13A3	64849	broad.mit.edu	37	chr20	45221110	45221110	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacaggaacaacagcataaGagggaaggcgaaaatgaacc	20	2	11	8	1	0	2	0	1	0	1	0	5	0	4	1	3	5	1	1	3	8	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr20:45221110G>C	ENST00000279027.4	-	6	871	c.853C>G	c.(853-855)Ctt>Gtt	p.L285V	SLC13A3_ENST00000413164.2_Intron|SLC13A3_ENST00000396360.1_Missense_Mutation_p.L238V|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Missense_Mutation_p.L238V|SLC13A3_ENST00000290317.5_Missense_Mutation_p.L238V|SLC13A3_ENST00000495082.1_Missense_Mutation_p.L238V|SLC13A3_ENST00000372121.1_Intron	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	285						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AACAGCATAAGAGGGAAGGCG	0.522													7	27					0	0	0	0	C	45221110	G	C	45221110	3	2	302	1	0	0	0	0	1	0	0	0	14481	942	33	2	987	2	SLC13A3	20	45221110	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	9552548	45221110	17804410	209	54201											
UMODL1	89766	broad.mit.edu	37	chr21	43547845	43547845	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactccaataaggcccagttCaagctgaggatcttttcctt	11	12	7	11	0	2	1	1	1	1	0	4	2	4	2	3	2	2	2	3	2	4	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr21:43547845C>T	ENST00000400427.1	+	19	4158	c.3762C>T	c.(3760-3762)ttC>ttT	p.F1254F	UMODL1_ENST00000408910.2_Silent_p.F1198F|UMODL1_ENST00000400424.1_Silent_p.F1126F|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Silent_p.F1326F	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1198						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGCCCAGTTCAAGCTGAGGA	0.517													12	47					0	0	0	0	T	43547845	C	T	43547845	2	4	302	1	0	0	0	0	0	0	0	1	17076	825	29	2		2	UMODL1	21	43547845	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08		43547845	4582050	210	54202											
C22orf43	51233	broad.mit.edu	37	chr22	23974134	23974134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcataaatatcagtatcaGattcataacagggtgcgtcc	13	12	7	9	1	4	1	4	0	1	1	6	1	5	1	1	1	2	1	1	1	5	5			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr22:23974134G>A	ENST00000317749.5	-	1	374	c.77C>T	c.(76-78)tCt>tTt	p.S26F	AP000346.2_ENST00000390329.2_RNA	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	26										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						ATCAGTATCAGATTCATAACA	0.542													26	66					0	0	0	0	A	23974134	G	A	23974134	3	1	302	1	0	0	0	0	1	0	0	0	2170	942	33	2	660	2	C22orf43	22	23974134	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08		23974134	27330432	211	54203											
CABIN1	23523	broad.mit.edu	37	chr22	24483605	24483605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgtcctatgccttgcactCattcgcctcacgtcaattga	8	13	6	14	2	3	1	3	1	0	0	5	1	4	1	3	0	2	1	3	0	2	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr22:24483605C>T	ENST00000398319.2	+	23	3849	c.3464C>T	c.(3463-3465)tCa>tTa	p.S1155L	CABIN1_ENST00000263119.5_Missense_Mutation_p.S1155L|CABIN1_ENST00000405822.2_Missense_Mutation_p.S1105L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1155					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.S1155*(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCTTGCACTCATTCGCCTCA	0.587													23	60					0	0	0	0	T	24483605	C	T	24483605	3	4	302	1	0	0	0	0	1	0	0	0	2553	838	29	2	3550	2	CABIN1	22	24483605	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	509471	24483605	26820961	212	54204											
TBC1D10A	83874	broad.mit.edu	37	chr22	30722748	30722748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggcctccgagtcagacccGagagagctgagttcgtcggt	7	9	14	11	4	1	3	1	1	0	2	4	6	2	3	3	2	1	2	3	2	0	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr22:30722748G>A	ENST00000215790.7	-	1	287	c.123C>T	c.(121-123)ctC>ctT	p.L41L	TBC1D10A_ENST00000403477.3_Silent_p.L41L|TBC1D10A_ENST00000490449.1_5'UTR	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	41						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGTCAGACCCGAGAGAGCTGA	0.731													12	34					0	0	0	0	A	30722748	G	A	30722748	2	1	302	1	0	0	0	0	0	0	0	1	15689	1045	37	1		1	TBC1D10A	22	30722748	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	6239143	30722748	20581818	213	54205											
SYAP1	94056	broad.mit.edu	37	chrX	16775366	16775366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtaacctaaatcaggaaGatctaaggaaagaaatggag	18	7	10	6	0	2	2	1	0	1	2	2	5	2	5	2	3	1	1	2	3	7	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:16775366G>A	ENST00000380155.3	+	8	958	c.865G>A	c.(865-867)Gat>Aat	p.D289N		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	289										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AAATCAGGAAGATCTAAGGAA	0.398													39	29					0	0	0	0	A	16775366	G	A	16775366	3	1	302	1	0	0	0	0	1	0	0	0	15516	942	33	2	895	2	SYAP1	23	16775366	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08		16775366	138495194	214	54206											
TAB3	257397	broad.mit.edu	37	chrX	30873379	30873379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaaaatggattgtagttggGagtagcagcaacaacagctg	16	8	12	5	0	0	0	0	0	0	0	0	2	0	2	0	2	5	6	0	2	7	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:30873379G>A	ENST00000378933.1	-	3	580	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	TAB3_ENST00000288422.2_Missense_Mutation_p.P135S|TAB3_ENST00000378932.2_Missense_Mutation_p.P135S|TAB3_ENST00000378930.3_Missense_Mutation_p.P135S	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	135					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTGTAGTTGGGAGTAGCAGCA	0.443													28	15					0	0	0	0	A	30873379	G	A	30873379	3	1	302	1	0	0	0	0	1	0	0	0	15588	1174	41	2	1759	2	TAB3	23	30873379	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	14098013	30873379	124397181	215	54207											
GATA1	2623	broad.mit.edu	37	chrX	48650432	48650432	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagcaccagcttcctggaGactttgaagacagagcggct	10	7	13	11	1	0	4	0	1	0	3	1	5	1	4	2	3	3	4	2	3	1	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:48650432G>A	ENST00000376670.3	+	3	513	c.402G>A	c.(400-402)gaG>gaA	p.E134E	GATA1_ENST00000376665.3_Silent_p.E134E	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	134					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GCTTCCTGGAGACTTTGAAGA	0.612			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome								15	14					0	0	0	0	A	48650432	G	A	48650432	2	1	302	1	0	0	0	0	0	0	0	1	6302	933	33	2		2	GATA1	23	48650432	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	17777053	48650432	106620128	216	54208											
KCND1	3750	broad.mit.edu	37	chrX	48826593	48826593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccttcacccccggtgccGggggcaggggttgctgggcc	3	7	17	14	2	1	0	1	0	0	0	1	0	1	0	5	6	3	3	5	6	0	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:48826593G>A	ENST00000218176.3	-	1	1383	c.86C>T	c.(85-87)cCg>cTg	p.P29L		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	29						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CCCCGGTGCCGGGGGCAGGGG	0.662													3	8					0	0	0	0	A	48826593	G	A	48826593	3	1	302	1	0	0	0	0	1	0	0	0	8071	1116	39	1	1881	1	KCND1	23	48826593	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	176161	48826593	106443967	217	54209											
HUWE1	10075	broad.mit.edu	37	chrX	53560990	53560990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgtgagctgaaggcaggcGatctgtggacctgtcatctc	7	11	14	9	1	3	2	1	2	2	0	4	4	3	3	1	3	1	2	1	3	1	0			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:53560990G>A	ENST00000342160.3	-	82	13457	c.13000C>T	c.(13000-13002)Cgc>Tgc	p.R4334C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4334C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4334	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAAGGCAGGCGATCTGTGGAC	0.493													23	19					0	0	0	0	A	53560990	G	A	53560990	3	1	302	1	0	0	0	0	1	0	0	0	7514	1058	37	1	132	1	HUWE1	23	53560990	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	4734397	53560990	101709570	218	54210											
ITM2A	9452	broad.mit.edu	37	chrX	78616833	78616833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attagttacttacccagcaaGaggtctctgcgacgaaggcg	11	9	11	10	3	1	1	0	0	1	1	2	3	1	1	1	2	4	2	1	2	5	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:78616833G>A	ENST00000434584.2	-	4	900	c.564C>T	c.(562-564)ctC>ctT	p.L188L	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Silent_p.L232L	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	232	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						TACCCAGCAAGAGGTCTCTGC	0.433													31	25					0	0	0	0	A	78616833	G	A	78616833	2	1	302	1	0	0	0	0	0	0	0	1	7965	929	33	2		2	ITM2A	23	78616833	Silent	SNP	G	TCGA-CV-7406-01A-11D-2078-08	25055843	78616833	76653727	219	54211											
TRMT2B	79979	broad.mit.edu	37	chrX	100290613	100290613	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccattttacctgcgccacttGactgtgtttctcagggatgt	6	15	9	11	1	1	1	1	1	1	0	2	2	1	2	3	1	2	1	3	1	1	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:100290613G>C	ENST00000338687.7	-	6	1268	c.463C>G	c.(463-465)Caa>Gaa	p.Q155E	TRMT2B_ENST00000545398.1_Missense_Mutation_p.Q200E|TRMT2B_ENST00000372936.3_Missense_Mutation_p.Q200E|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372931.5_Missense_Mutation_p.Q200E|TRMT2B_ENST00000372935.1_Missense_Mutation_p.Q200E|TRMT2B_ENST00000372939.1_Missense_Mutation_p.Q155E			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	200							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TGCGCCACTTGACTGTGTTTC	0.393													24	31					0	0	0	0	C	100290613	G	C	100290613	3	2	302	1	0	0	0	0	1	0	0	0	16661	1299	45	2	948	2	TRMT2B	23	100290613	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	21673780	100290613	54979947	220	54212											
GPRASP2	114928	broad.mit.edu	37	chrX	101971015	101971015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggtggagcttcagcaatCtgtgaatctgagccaggaac	11	8	14	8	0	3	2	1	2	2	0	3	5	3	4	1	3	4	2	1	3	3	1			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:101971015C>G	ENST00000543253.1	+	5	2137	c.1218C>G	c.(1216-1218)atC>atG	p.I406M	GPRASP2_ENST00000332262.5_Missense_Mutation_p.I406M|GPRASP2_ENST00000535209.1_Missense_Mutation_p.I406M	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTCAGCAATCTGTGAATCTG	0.547													3	37					0	0	0	0	G	101971015	C	G	101971015	3	3	302	1	0	0	0	0	1	0	0	0	6773	903	32	2	1220	2	GPRASP2	23	101971015	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	1680402	101971015	53299545	221	54213											
ELF4	2000	broad.mit.edu	37	chrX	129205093	129205093	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acagcttggacacagctttgGagtccaccagtttgaagatg	11	10	11	9	0	0	2	0	1	0	1	1	4	1	4	2	2	2	3	2	2	1	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:129205093G>C	ENST00000308167.5	-	7	1110	c.731C>G	c.(730-732)tCc>tGc	p.S244C	ELF4_ENST00000335997.7_Missense_Mutation_p.S244C	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	244					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CACAGCTTTGGAGTCCACCAG	0.522			T	ERG	AML								63	40					0	0	0	0	C	129205093	G	C	129205093	3	2	302	1	0	0	0	0	1	0	0	0	5094	1174	41	2	1272	2	ELF4	23	129205093	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	27234078	129205093	26065467	222	54214											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220635	130220635	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaaagcaagccttctgaTgaaggtcagttccctgctgg	9	10	11	11	0	3	2	2	2	1	0	4	2	4	2	2	2	3	4	2	2	3	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:130220635T>A	ENST00000276211.5	+	11	1827	c.1482T>A	c.(1480-1482)gaT>gaA	p.D494E	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.D358E|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.D482E	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	494					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AGCCTTCTGATGAAGGTCAGT	0.537													7	32					0	0	0	0	A	130220635	T	A	130220635	3	1	302	1	0	0	0	0	1	0	0	0	885	1461	51	5	1520	5	ARHGAP36	23	130220635	Missense_Mutation	SNP	T	TCGA-CV-7406-01A-11D-2078-08	1015542	130220635	25049925	223	54215											
GPC4	2239	broad.mit.edu	37	chrX	132440099	132440099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcatgttcataatagcatCagaaatcttcacatcgatgg	13	12	7	9	1	4	1	3	0	1	1	5	2	4	1	0	1	2	3	0	1	3	4			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:132440099C>T	ENST00000370828.3	-	5	1485	c.961G>A	c.(961-963)Gat>Aat	p.D321N	GPC4_ENST00000535467.1_Missense_Mutation_p.D251N	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	321					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ATAATAGCATCAGAAATCTTC	0.488													41	35					0	0	0	0	T	132440099	C	T	132440099	3	4	302	1	0	0	0	0	1	0	0	0	6649	826	29	2	729	2	GPC4	23	132440099	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	2219464	132440099	22830461	224	54216											
GPC3	2719	broad.mit.edu	37	chrX	132795857	132795857	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aactggtttttcattccattCcttgctgccttttggctgta	5	19	7	10	0	1	0	1	0	0	0	3	0	3	0	3	2	3	4	3	2	2	8			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:132795857C>T	ENST00000370818.3	-	6	1759	c.1314G>A	c.(1312-1314)agG>agA	p.R438R	GPC3_ENST00000543339.1_Silent_p.R384R|GPC3_ENST00000394299.2_Silent_p.R461R	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	438						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCATTCCATTCCTTGCTGCCT	0.413			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				15	23					0	0	0	0	T	132795857	C	T	132795857	2	4	302	1	0	0	0	0	0	0	0	1	6648	854	30	2		2	GPC3	23	132795857	Silent	SNP	C	TCGA-CV-7406-01A-11D-2078-08	355758	132795857	22474703	225	54217											
MAGEC2	51438	broad.mit.edu	37	chrX	141291674	141291674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaggcttcctcctcttcctCatctgtgggatgctgtgcat	4	14	11	12	0	3	0	1	0	2	0	6	2	6	2	3	3	2	3	3	3	0	2			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:141291674C>T	ENST00000247452.3	-	3	447	c.100G>A	c.(100-102)Gag>Aag	p.E34K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	34	Poly-Glu.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTCCTCATCTGTGGGA	0.522										HNSCC(46;0.14)			45	41					0	0	0	0	T	141291674	C	T	141291674	3	4	302	1	0	0	0	0	1	0	0	0	9250	835	29	2	1025	2	MAGEC2	23	141291674	Missense_Mutation	SNP	C	TCGA-CV-7406-01A-11D-2078-08	8495817	141291674	13978886	226	54218											
HCFC1	3054	broad.mit.edu	37	chrX	153215717	153215717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagccacctcacttgtgtgGccgggccatagcccttctca	6	9	10	16	1	2	0	2	0	1	0	3	0	2	0	5	2	2	1	5	2	1	3			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:153215717G>A	ENST00000310441.7	-	24	6947	c.5981C>T	c.(5980-5982)gCc>gTc	p.A1994V	HCFC1_ENST00000369984.4_Missense_Mutation_p.A2039V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A1925V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1994					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTTGTGTGGCCGGGCCATA	0.622													26	11					0	0	0	0	A	153215717	G	A	153215717	3	1	302	1	0	0	0	0	1	0	0	0	7041	1203	42	4	138	4	HCFC1	23	153215717	Missense_Mutation	SNP	G	TCGA-CV-7406-01A-11D-2078-08	11924043	153215717	2054843	227	54219											
PLEKHM2	23207	broad.mit.edu	37	chr1	16059015	16059015	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgagccgggcaaggagtaCtgcgtcttggtgagctttga	8	9	15	9	3	1	2	0	2	1	0	1	4	1	3	2	3	4	3	2	3	2	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:16059015C>G	ENST00000375799.3	+	18	3023	c.2796C>G	c.(2794-2796)taC>taG	p.Y932*	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Nonsense_Mutation_p.Y912*|PLEKHM2_ENST00000477849.1_3'UTR	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	932					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GCAAGGAGTACTGCGTCTTGG	0.632													8	8					0	0	0	0	G	16059015	C	G	16059015	4	3	303	1	0	0	0	0	0	1	0	0	12153	576	20	4	2866	4	PLEKHM2	1	16059015	Nonsense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08		16059015	233191606	1	54220											
COL24A1	255631	broad.mit.edu	37	chr1	86361734	86361734	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggccctctttttccttgAtctcctttttcaccctaaca	6	17	4	14	0	3	2	1	2	2	0	5	2	4	2	4	1	1	0	4	1	1	6			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:86361734A>G	ENST00000370571.2	-	30	3213	c.2847T>C	c.(2845-2847)gaT>gaC	p.D949D	COL24A1_ENST00000436319.1_Silent_p.D949D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	949	Collagen-like 8.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTTCCTTGATCTCCTTTTT	0.318													10	26					0	0	0	0	G	86361734	A	G	86361734	2	3	303	1	0	0	0	0	0	0	0	1	3713	330	12	5		5	COL24A1	1	86361734	Silent	SNP	A	TCGA-CV-7407-01A-11D-2078-08	70302719	86361734	162888887	2	54221											
LRRC8D	55144	broad.mit.edu	37	chr1	90400516	90400516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaactcttggtactgaacaGccttaagaaaatgatgaatg	16	11	8	6	0	1	4	0	3	1	1	1	4	1	4	1	1	4	1	1	1	8	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:90400516G>C	ENST00000337338.5	+	3	2296	c.1889G>C	c.(1888-1890)aGc>aCc	p.S630T	LRRC8D_ENST00000394593.3_Missense_Mutation_p.S630T	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	630						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTACTGAACAGCCTTAAGAAA	0.418													6	65					0	0	0	0	C	90400516	G	C	90400516	3	2	303	1	0	0	0	0	1	0	0	0	9088	971	34	4	1891	4	LRRC8D	1	90400516	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	4038782	90400516	158850105	3	54222											
PSMB4	5692	broad.mit.edu	37	chr1	151373789	151373789	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgacttagtagaacgctgCatgcgagtgctgtactaccg	9	9	12	11	5	0	1	0	0	0	1	0	3	0	1	1	0	6	5	1	0	5	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:151373789C>A	ENST00000290541.6	+	5	705	c.651C>A	c.(649-651)tgC>tgA	p.C217*		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	217					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAGAACGCTGCATGCGAGTGC	0.577													25	146					3.08376e-08	3.39022e-08	1	0	A	151373789	C	A	151373789	4	1	303	1	0	0	0	0	0	1	0	0	12758	718	25	4	669	4	PSMB4	1	151373789	Nonsense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	60973273	151373789	97876832	4	54223											
SMCP	4184	broad.mit.edu	37	chr1	152856943	152856943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgctgcccagcaaaaggCaatcaatgctgcccaccaca	15	5	7	14	0	1	0	1	0	0	0	1	0	1	0	3	1	5	4	3	1	5	0			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:152856943C>T	ENST00000368765.3	+	2	195	c.45C>T	c.(43-45)ggC>ggT	p.G15G		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	15	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida|sperm motility	mitochondrial membrane				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCAAAAGGCAATCAATGCT	0.458													16	48					0	0	0	0	T	152856943	C	T	152856943	2	4	303	1	0	0	0	0	0	0	0	1	14877	697	25	4		4	SMCP	1	152856943	Silent	SNP	C	TCGA-CV-7407-01A-11D-2078-08	1483154	152856943	96393678	5	54224											
PRCC	5546	broad.mit.edu	37	chr1	156756890	156756890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggggccccttggatgcCtaagcctggggacgactaca	9	7	14	11	1	0	0	0	0	0	0	0	3	0	2	4	5	3	0	4	5	3	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:156756890C>T	ENST00000271526.4	+	3	1279	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.P336L	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	336					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTTGGATGCCTAAGCCTGGG	0.572			T	TFE3	papillary renal								89	181					0	0	0	0	T	156756890	C	T	156756890	3	4	303	1	0	0	0	0	1	0	0	0	12527	681	24	4	1017	4	PRCC	1	156756890	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	3899947	156756890	92493731	6	54225											
CD1D	912	broad.mit.edu	37	chr1	158152716	158152716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagtcctggccctggccGtctgctgctggtgtgccatg	2	10	13	16	1	1	0	0	0	1	0	2	0	2	0	6	3	3	2	6	3	0	0			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:158152716G>A	ENST00000368171.3	+	5	1155	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	219	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGCCCTGGCCGTCTGCTGCTG	0.592													13	94					0	0	0	0	A	158152716	G	A	158152716	3	1	303	1	0	0	0	0	1	0	0	0	3006	1145	40	1	670	1	CD1D	1	158152716	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	1395826	158152716	91097905	7	54226											
ARHGAP30	257106	broad.mit.edu	37	chr1	161018149	161018149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgaggtggctgtggggctaCctcttccatctcagaagagt	7	11	13	10	0	2	3	1	1	2	2	4	3	3	3	2	4	1	2	2	4	2	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:161018149C>A	ENST00000368013.3	-	12	2982	c.2662G>T	c.(2662-2664)Gta>Tta	p.V888L	ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.V711L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	888	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGTGGGGCTACCTCTTCCATC	0.587													16	34					1.5739e-10	1.78577e-10	1	0	A	161018149	C	A	161018149	3	1	303	1	0	0	0	0	1	0	0	0	881	507	18	4	647	4	ARHGAP30	1	161018149	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	2865433	161018149	88232472	8	54227											
POGK	57645	broad.mit.edu	37	chr1	166818317	166818317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcccgagtggagtgagggGtaccccttctacatggccat	7	9	13	12	1	1	1	0	1	1	0	1	3	1	2	4	4	3	1	4	4	2	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:166818317G>A	ENST00000367875.1	+	5	861	c.501G>A	c.(499-501)ggG>ggA	p.G167G	POGK_ENST00000536514.1_Silent_p.G82G|POGK_ENST00000367876.4_Silent_p.G167G|POGK_ENST00000537173.1_Silent_p.G49G			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	167					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GGAGTGAGGGGTACCCCTTCT	0.577													9	54					0	0	0	0	A	166818317	G	A	166818317	2	1	303	1	0	0	0	0	0	0	0	1	12257	1248	44	4		4	POGK	1	166818317	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	5800168	166818317	82432304	9	54228											
F5	2153	broad.mit.edu	37	chr1	169511310	169511310	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcttacttgtagagatttAtgtctaactctaggaaactt	11	17	7	6	0	3	1	0	0	3	1	3	3	3	2	0	1	3	1	0	1	6	8			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:169511310A>C	ENST00000367796.3	-	13	3234	c.3033T>G	c.(3031-3033)caT>caG	p.H1011Q	F5_ENST00000367797.3_Missense_Mutation_p.H1006Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1006	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTAGAGATTTATGTCTAACTC	0.463													17	209					0	0	0	0	C	169511310	A	C	169511310	3	2	303	1	0	0	0	0	1	0	0	0	5386	446	16	5	3708	5	F5	1	169511310	Missense_Mutation	SNP	A	TCGA-CV-7407-01A-11D-2078-08	2692993	169511310	79739311	10	54229											
FMO1	2326	broad.mit.edu	37	chr1	171249964	171249964	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggggatgggtgatcagcCgaatctttgactcgggctac	8	9	16	8	2	2	2	1	2	1	0	3	5	2	3	1	4	2	1	1	4	2	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:171249964C>T	ENST00000354841.4	+	5	798	c.667C>T	c.(667-669)Cga>Tga	p.R223*	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Nonsense_Mutation_p.R160*|FMO1_ENST00000367750.3_Nonsense_Mutation_p.R223*			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	223			R -> Q (in dbSNP:rs16864310).		NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTGATCAGCCGAATCTTTGA	0.517													3	48					0	0	0	0	T	171249964	C	T	171249964	4	4	303	1	0	0	0	0	0	1	0	0	5999	644	23	1	685	1	FMO1	1	171249964	Nonsense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	1738654	171249964	78000657	11	54230											
SLC26A9	115019	broad.mit.edu	37	chr1	205888028	205888028	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggcaaagaggactgcGtcatgtatgctgggaaagac	11	7	15	8	1	1	2	1	0	0	2	1	4	1	4	1	3	2	3	1	3	3	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:205888028G>A	ENST00000367135.3	-	19	2309	c.2196C>T	c.(2194-2196)gaC>gaT	p.D732D	SLC26A9_ENST00000340781.4_Silent_p.D732D|SLC26A9_ENST00000367134.2_Silent_p.D732D	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	732	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGAGGACTGCGTCATGTATGC	0.522											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	259					0	0	0	0	A	205888028	G	A	205888028	2	1	303	1	0	0	0	0	0	0	0	1	14612	1136	40	1		1	SLC26A9	1	205888028	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	34638064	205888028	43362593	12	54231											
SERTAD4	56256	broad.mit.edu	37	chr1	210415025	210415025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ataaacaatttgatgaaaagGatccatggagaaattatcat	19	11	7	4	0	1	3	1	2	0	1	2	5	2	4	1	2	1	0	1	2	7	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:210415025G>C	ENST00000367012.3	+	4	644	c.414G>C	c.(412-414)agG>agC	p.R138S	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	138	SERTA.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGATGAAAAGGATCCATGGAG	0.428													24	149					0	0	0	0	C	210415025	G	C	210415025	3	2	303	1	0	0	0	0	1	0	0	0	14210	1165	41	2	424	2	SERTAD4	1	210415025	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	4526997	210415025	38835596	13	54232											
ANGEL2	90806	broad.mit.edu	37	chr1	213181634	213181634	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggccgccggcaatgtctaTaaaggtgagagttatcttcc	9	11	11	10	2	2	1	0	1	2	1	3	2	3	1	3	3	0	2	3	3	5	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:213181634T>C	ENST00000366962.3	-	3	714	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	ANGEL2_ENST00000535388.1_Missense_Mutation_p.Y18C|ANGEL2_ENST00000360506.2_Missense_Mutation_p.Y18C|ANGEL2_ENST00000540642.1_Missense_Mutation_p.Y61C|ANGEL2_ENST00000544555.1_Missense_Mutation_p.Y18C	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	187										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GCAATGTCTATAAAGGTGAGA	0.353													20	77					0	0	0	0	C	213181634	T	C	213181634	3	2	303	1	0	0	0	0	1	0	0	0	609	1406	49	5	1102	5	ANGEL2	1	213181634	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08	2766609	213181634	36068987	14	54233											
SIPA1L2	57568	broad.mit.edu	37	chr1	232600688	232600688	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacactttgatactcactaaTccagatgtccacccaatcac	14	10	3	14	0	2	2	2	1	0	1	4	2	4	2	3	0	2	0	3	0	4	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:232600688T>C	ENST00000366630.1	-	8	3076	c.2718A>G	c.(2716-2718)ggA>ggG	p.G906G	SIPA1L2_ENST00000262861.4_Silent_p.G906G			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	906					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TACTCACTAATCCAGATGTCC	0.428													44	43					0	0	0	0	C	232600688	T	C	232600688	2	2	303	1	0	0	0	0	0	0	0	1	14418	1422	50	5		5	SIPA1L2	1	232600688	Silent	SNP	T	TCGA-CV-7407-01A-11D-2078-08	19419054	232600688	16649933	15	54234											
AKT3	10000	broad.mit.edu	37	chr1	243809217	243809217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttttatgatgggttgtaGaggcatccatctcttcctct	6	18	8	9	0	3	2	0	1	3	1	6	2	5	2	2	2	0	3	2	2	2	6			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:243809217G>C	ENST00000366539.1	-	5	607	c.407C>G	c.(406-408)tCt>tGt	p.S136C	AKT3_ENST00000263826.5_Missense_Mutation_p.S136C|AKT3_ENST00000336199.5_Missense_Mutation_p.S136C|AKT3_ENST00000366540.1_Missense_Mutation_p.S136C			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	136					signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			ATGGGTTGTAGAGGCATCCAT	0.383													8	61					0	0	0	0	C	243809217	G	C	243809217	3	2	303	1	0	0	0	0	1	0	0	0	481	942	33	2	1120	2	AKT3	1	243809217	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	11208529	243809217	5441404	16	54235											
PXDN	7837	broad.mit.edu	37	chr2	1653341	1653341	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcgtccggtacttctggtgGaagcacatgtccgagcagtt	7	11	13	10	3	1	0	0	0	1	0	3	2	3	1	2	3	4	4	2	3	2	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:1653341G>A	ENST00000252804.4	-	17	2261	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	737					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.F737L(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACTTCTGGTGGAAGCACATGT	0.612													24	87					0	0	0	0	A	1653341	G	A	1653341	2	1	303	1	0	0	0	0	0	0	0	1	12929	1165	41	2		2	PXDN	2	1653341	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08		1653341	241546032	17	54236											
PXDN	7837	broad.mit.edu	37	chr2	1664729	1664729	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcatagcgacctgcgtcTgcagggccaacgtcattgat	9	9	10	13	3	3	1	2	1	1	0	3	2	3	1	2	1	4	1	2	1	2	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:1664729T>C	ENST00000252804.4	-	14	1811	c.1761A>G	c.(1759-1761)gcA>gcG	p.A587A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	587	Ig-like C2-type 4.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GACCTGCGTCTGCAGGGCCAA	0.522													10	32					0	0	0	0	C	1664729	T	C	1664729	2	2	303	1	0	0	0	0	0	0	0	1	12929	1567	55	5		5	PXDN	2	1664729	Silent	SNP	T	TCGA-CV-7407-01A-11D-2078-08	11388	1664729	241534644	18	54237											
APOB	338	broad.mit.edu	37	chr2	21231328	21231328	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcttgaaaatcaaaattGagaacttctaatttggactc	14	15	6	6	0	2	2	1	2	1	1	3	4	2	3	0	1	2	1	0	1	6	6			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:21231328G>A	ENST00000233242.1	-	26	8539	c.8412C>T	c.(8410-8412)ctC>ctT	p.L2804L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2804					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATCAAAATTGAGAACTTCTA	0.448													30	114					0	0	0	0	A	21231328	G	A	21231328	2	1	303	1	0	0	0	0	0	0	0	1	787	1277	45	2		2	APOB	2	21231328	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	19566599	21231328	221968045	19	54238											
CCDC121	79635	broad.mit.edu	37	chr2	27850176	27850176	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttttctctttcccagtAgcctcctgtctggctcgctc	2	18	6	15	1	3	0	0	0	3	0	8	0	5	0	3	1	1	3	3	1	1	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:27850176A>G	ENST00000324364.3	-	2	671	c.491T>C	c.(490-492)cTa>cCa	p.L164P	ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.L326P	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	164										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CTTTCCCAGTAGCCTCCTGTC	0.483													24	84					0	0	0	0	G	27850176	A	G	27850176	3	3	303	1	0	0	0	0	1	0	0	0	2782	420	15	5	349	5	CCDC121	2	27850176	Missense_Mutation	SNP	A	TCGA-CV-7407-01A-11D-2078-08	6618848	27850176	215349197	20	54239											
C2orf42	54980	broad.mit.edu	37	chr2	70408542	70408542	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttctggcttgccttgcaTttcaccaccaagatgttttt	6	17	7	11	0	2	1	1	0	1	1	2	1	2	1	3	1	3	4	3	1	1	6			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:70408542T>C	ENST00000264434.2	-	3	955	c.576A>G	c.(574-576)aaA>aaG	p.K192K	C2orf42_ENST00000420306.1_Silent_p.K192K	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	192										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TTGCCTTGCATTTCACCACCA	0.512													14	102					0	0	0	0	C	70408542	T	C	70408542	2	2	303	1	0	0	0	0	0	0	0	1	2186	1490	52	5		5	C2orf42	2	70408542	Silent	SNP	T	TCGA-CV-7407-01A-11D-2078-08	42558366	70408542	172790831	21	54240											
ZNF638	27332	broad.mit.edu	37	chr2	71653593	71653596	+	Frame_Shift_Del	DEL	CCAT	CCAT	-																															ttttaactttccaacaggagCcattatttccatttaatttg																										TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:71653593_71653596delCCAT	ENST00000409544.1	+	24	5224_5227	c.4594_4597delCCAT	c.(4594-4599)tafs	p.PL1532fs	ZNF638_ENST00000264447.4_Frame_Shift_Del_p.PL1532fs|ZNF638_ENST00000409407.1_Frame_Shift_Del_p.PL472fs|ZNF638_ENST00000355812.3_Frame_Shift_Del_p.SH1123fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1532					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CCAACAGGAGCCATTATTTCCATT	0.353													7	52	---	---	---	---					-	71653596	CCAT	-	71653593	7	5	303	1	0	1	0	1	0	0	0	0	18150	739	26	0	4684	0	ZNF638	2	71653593	Frame_Shift_Del	DEL	CCAT	TCGA-CV-7407-01A-11D-2078-08	1245051	71653593	171545780	22	54241											
TSGA10	80705	broad.mit.edu	37	chr2	99720536	99720536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgcttatggtttcctTcatcaaagtcatatttgaca	11	15	6	9	0	3	1	3	1	0	0	4	1	4	1	1	1	1	2	1	1	3	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:99720536T>C	ENST00000393483.3	-	10	1349	c.505A>G	c.(505-507)Aag>Gag	p.K169E	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.K169E|TSGA10_ENST00000355053.4_Missense_Mutation_p.K169E|TSGA10_ENST00000542655.1_Missense_Mutation_p.K169E|TSGA10_ENST00000410001.1_Missense_Mutation_p.K169E	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	169					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATGGTTTCCTTCATCAAAGTC	0.363													22	55					0	0	0	0	C	99720536	T	C	99720536	3	2	303	1	0	0	0	0	1	0	0	0	16712	1792	62	5	1639	5	TSGA10	2	99720536	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08	28066943	99720536	143478837	23	54242											
IL18RAP	8807	broad.mit.edu	37	chr2	103068292	103068292	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatatttatcttgagccccaActatgtcaatggacccagta	13	12	6	10	0	2	1	1	1	1	0	2	2	2	2	3	1	2	1	3	1	7	6			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:103068292A>G	ENST00000264260.2	+	12	2040	c.1451A>G	c.(1450-1452)aAc>aGc	p.N484S	IL18RAP_ENST00000409369.1_Missense_Mutation_p.N342S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	484	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTGAGCCCCAACTATGTCAAT	0.353													12	86					0	0	0	0	G	103068292	A	G	103068292	3	3	303	1	0	0	0	0	1	0	0	0	7701	43	2	5	1489	5	IL18RAP	2	103068292	Missense_Mutation	SNP	A	TCGA-CV-7407-01A-11D-2078-08	3347756	103068292	140131081	24	54243											
CLASP1	23332	broad.mit.edu	37	chr2	122155929	122155929	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtttgagtttgatccacaAtaaatctcatcaaaatgtta	15	14	6	6	0	2	2	2	2	1	0	4	3	3	2	1	0	0	3	1	0	6	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:122155929A>G	ENST00000263710.4	-	29	3337	c.2948T>C	c.(2947-2949)aTt>aCt	p.I983T	CLASP1_ENST00000541859.1_Missense_Mutation_p.I739T|CLASP1_ENST00000455322.2_Missense_Mutation_p.I978T|CLASP1_ENST00000545861.1_Missense_Mutation_p.I729T|CLASP1_ENST00000409078.3_Missense_Mutation_p.I955T|CLASP1_ENST00000397587.3_Missense_Mutation_p.I962T|CLASP1_ENST00000541377.1_Missense_Mutation_p.I961T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	983					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TTGATCCACAATAAATCTCAT	0.299													3	3					0	0	0	0	G	122155929	A	G	122155929	3	3	303	1	0	0	0	0	1	0	0	0	3484	101	4	5	1716	5	CLASP1	2	122155929	Missense_Mutation	SNP	A	TCGA-CV-7407-01A-11D-2078-08	19087637	122155929	121043444	25	54244											
LCT	3938	broad.mit.edu	37	chr2	136566291	136566291	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcacgattctggagtagTacgtgttgaggcagaagacg	10	9	15	7	3	1	3	0	1	1	2	1	5	1	4	0	2	2	6	0	2	3	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:136566291T>G	ENST00000264162.2	-	8	3636	c.3626A>C	c.(3625-3627)tAc>tCc	p.Y1209S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1209	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCTGGAGTAGTACGTGTTGAG	0.577													45	96					0	0	0	0	G	136566291	T	G	136566291	3	3	303	1	0	0	0	0	1	0	0	0	8746	1638	57	5	2197	5	LCT	2	136566291	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08	14410362	136566291	106633082	26	54245											
LRP1B	53353	broad.mit.edu	37	chr2	141533735	141533735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttattccgtaggatggtgGggtttcttccgtctcttttg	3	19	11	8	2	3	0	0	0	3	0	6	1	5	1	2	4	0	2	2	4	2	7			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:141533735G>T	ENST00000389484.3	-	33	6403	c.5432C>A	c.(5431-5433)cCc>cAc	p.P1811H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1811					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGGATGGTGGGGTTTCTTCC	0.408										TSP Lung(27;0.18)			14	31					3.27435e-08	3.57753e-08	1	0	T	141533735	G	T	141533735	3	4	303	1	0	0	0	0	1	0	0	0	9019	1232	43	4	8603	4	LRP1B	2	141533735	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	4967444	141533735	101665638	27	54246											
FMNL2	114793	broad.mit.edu	37	chr2	153471451	153471451	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgtaggagctctactggaAgatgctgaaactaagaatgc	14	9	12	6	0	1	3	0	1	1	2	1	6	1	5	0	2	5	3	0	2	6	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:153471451A>G	ENST00000288670.9	+	12	1516	c.1149A>G	c.(1147-1149)gaA>gaG	p.E383E		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	383	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTCTACTGGAAGATGCTGAAA	0.398													13	40					0	0	0	0	G	153471451	A	G	153471451	2	3	303	1	0	0	0	0	0	0	0	1	5997	69	3	5		5	FMNL2	2	153471451	Silent	SNP	A	TCGA-CV-7407-01A-11D-2078-08	11937716	153471451	89727922	28	54247											
BAZ2B	29994	broad.mit.edu	37	chr2	160204060	160204060	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctacctgttgaaggacactCaaatccatttccattgcttg	10	14	6	11	0	2	1	1	1	1	0	4	2	4	2	3	1	2	2	3	1	3	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:160204060C>G	ENST00000392783.2	-	31	5886	c.5391G>C	c.(5389-5391)ttG>ttC	p.L1797F	BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1763F|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1761F|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1697F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GAAGGACACTCAAATCCATTT	0.353													3	56					0	0	0	0	G	160204060	C	G	160204060	3	3	303	1	0	0	0	0	1	0	0	0	1336	825	29	2	1143	2	BAZ2B	2	160204060	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	6732609	160204060	82995313	29	54248											
COBLL1	22837	broad.mit.edu	37	chr2	165557131	165557131	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcaggatcatttttcagtGtatttattatatcagtagat	12	18	7	4	0	4	1	4	0	0	1	4	2	4	2	0	1	0	2	0	1	5	8			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:165557131G>C	ENST00000375458.2	-	9	1582	c.1361C>G	c.(1360-1362)aCa>aGa	p.T454R	COBLL1_ENST00000409184.3_Missense_Mutation_p.T492R|COBLL1_ENST00000392717.2_Missense_Mutation_p.T531R|COBLL1_ENST00000342193.4_Missense_Mutation_p.T493R|COBLL1_ENST00000194871.6_Missense_Mutation_p.T559R|COBLL1_ENST00000491126.2_5'UTR	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	531										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ATTTTTCAGTGTATTTATTAT	0.373													12	87					0	0	0	0	C	165557131	G	C	165557131	3	2	303	1	0	0	0	0	1	0	0	0	3684	1377	48	4	2042	4	COBLL1	2	165557131	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	5353071	165557131	77642242	30	54249											
TTN	7273	broad.mit.edu	37	chr2	179433970	179433970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtaattttttattttggatCccccatccaacaaaggaggt	11	15	7	8	0	0	0	0	0	0	0	2	2	2	2	3	3	1	1	3	3	4	6			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:179433970C>T	ENST00000589042.1	-	326	77113	c.76889G>A	c.(76888-76890)gGa>gAa	p.G25630E	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16565E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23989E|TTN_ENST00000359218.5_Missense_Mutation_p.G16690E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23062E|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16757E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23989							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)			TATTTTGGATCCCCCATCCAA	0.393													20	416					0	0	0	0	T	179433970	C	T	179433970	3	4	303	1	0	0	0	0	1	0	0	0	16831	855	30	2	31238	2	TTN	2	179433970	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	13876839	179433970	63765403	31	54250											
TTN	7273	broad.mit.edu	37	chr2	179457754	179457754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtggctgccaagttagatCgactgaattgcatgttgtat	9	14	12	6	1	0	2	0	1	0	1	1	3	0	2	1	2	2	5	1	2	4	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:179457754C>T	ENST00000589042.1	-	300	59316	c.59092G>A	c.(59092-59094)Gat>Aat	p.D19698N	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10633N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D18057N|TTN_ENST00000359218.5_Missense_Mutation_p.D10758N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17130N|TTN_ENST00000342175.6_Missense_Mutation_p.D10825N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18057	Fibronectin type-III 42.						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)			CAAGTTAGATCGACTGAATTG	0.393													7	216					0	0	0	0	T	179457754	C	T	179457754	3	4	303	1	0	0	0	0	1	0	0	0	16831	884	31	1	49139	1	TTN	2	179457754	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	23784	179457754	63741619	32	54251											
TTN	7273	broad.mit.edu	37	chr2	179640277	179640277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accattcacattcggggtctGgtttccccacgactctgacc	7	11	8	15	2	3	1	1	1	2	0	5	2	4	1	4	3	0	1	4	3	0	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:179640277G>A	ENST00000589042.1	-	28	6538	c.6314C>T	c.(6313-6315)cCa>cTa	p.P2105L	TTN_ENST00000460472.2_Missense_Mutation_p.P2059L|TTN_ENST00000591111.1_Missense_Mutation_p.P2105L|TTN_ENST00000359218.5_Missense_Mutation_p.P2059L|TTN_ENST00000342992.6_Missense_Mutation_p.P2105L|TTN_ENST00000342175.6_Missense_Mutation_p.P2059L|TTN_ENST00000360870.5_Missense_Mutation_p.P2105L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1868	Ig-like 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)			TTCGGGGTCTGGTTTCCCCAC	0.478													5	96					0	0	0	0	A	179640277	G	A	179640277	3	1	303	1	0	0	0	0	1	0	0	0	16831	1348	47	4	105014	4	TTN	2	179640277	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	182523	179640277	63559096	33	54252											
DNAJC10	54431	broad.mit.edu	37	chr2	183616441	183616441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaagtgtgaattctcatGttaccacgcttggacctcaa	13	11	8	9	1	2	2	2	1	1	1	3	3	2	3	2	1	1	2	2	1	5	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:183616441G>A	ENST00000264065.6	+	15	1778	c.1363G>A	c.(1363-1365)Gtt>Att	p.V455I		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	455	Thioredoxin 2.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAATTCTCATGTTACCACGCT	0.353													20	276					0	0	0	0	A	183616441	G	A	183616441	3	1	303	1	0	0	0	0	1	0	0	0	4665	1377	48	4	1413	4	DNAJC10	2	183616441	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	3976164	183616441	59582932	34	54253											
NCKAP1	10787	broad.mit.edu	37	chr2	183845983	183845983	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttttacctgcacgagttCattgaggacaacagcatcaa	13	11	8	9	1	2	1	2	1	0	0	2	3	2	2	1	1	4	4	1	1	3	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:183845983C>G	ENST00000360982.2	-	14	2106	c.1348G>C	c.(1348-1350)Gaa>Caa	p.E450Q	NCKAP1_ENST00000361354.3_Missense_Mutation_p.E444Q	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	444					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGCACGAGTTCATTGAGGACA	0.383													5	110					0	0	0	0	G	183845983	C	G	183845983	3	3	303	1	0	0	0	0	1	0	0	0	10291	835	29	2	2132	2	NCKAP1	2	183845983	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	229542	183845983	59353390	35	54254											
NCKAP1	10787	broad.mit.edu	37	chr2	183866755	183866755	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatcatctggccaaggcGtgggtattctctgtcactta	9	12	9	11	1	4	0	2	0	2	0	5	0	4	0	1	3	0	1	1	3	4	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:183866755G>C	ENST00000360982.2	-	7	1305	c.547C>G	c.(547-549)Cgc>Ggc	p.R183G	NCKAP1_ENST00000361354.3_Missense_Mutation_p.R177G	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	177					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGCCAAGGCGTGGGTATTCT	0.363													6	108					0	0	0	0	C	183866755	G	C	183866755	3	2	303	1	0	0	0	0	1	0	0	0	10291	1145	40	3	2961	3	NCKAP1	2	183866755	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	20772	183866755	59332618	36	54255											
ZNF142	7701	broad.mit.edu	37	chr2	219507041	219507041	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctcctcatgctgttccaGgtagtgctttaccaggccca	7	12	9	13	0	2	0	1	0	1	0	4	0	3	0	4	2	3	4	4	2	2	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:219507041G>C	ENST00000411696.2	-	7	4977	c.4198C>G	c.(4198-4200)Ctg>Gtg	p.L1400V	ZNF142_ENST00000449707.1_Missense_Mutation_p.L1400V			P52746	ZN142_HUMAN	zinc finger protein 142	1400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCTGTTCCAGGTAGTGCTTT	0.612													17	43					0	0	0	0	C	219507041	G	C	219507041	3	2	303	1	0	0	0	0	1	0	0	0	17826	991	35	4	877	4	ZNF142	2	219507041	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	35640286	219507041	23692332	37	54256											
SLC4A3	6508	broad.mit.edu	37	chr2	220494312	220494312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtctgcagttctccattgGaagtgacgaggatgacagtc	10	11	12	8	1	2	2	0	2	2	0	4	5	2	4	1	2	1	2	1	2	1	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:220494312G>A	ENST00000358055.3	+	5	1018	c.506G>A	c.(505-507)gGa>gAa	p.G169E	SLC4A3_ENST00000497589.1_Intron|SLC4A3_ENST00000317151.3_Missense_Mutation_p.G169E|SLC4A3_ENST00000273063.6_Missense_Mutation_p.G169E|SLC4A3_ENST00000373762.3_Missense_Mutation_p.G169E|SLC4A3_ENST00000373760.2_Missense_Mutation_p.G169E			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	169					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTCCATTGGAAGTGACGAG	0.637													13	22					0	0	0	0	A	220494312	G	A	220494312	3	1	303	1	0	0	0	0	1	0	0	0	14743	1174	41	2	520	2	SLC4A3	2	220494312	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	987271	220494312	22705061	38	54257											
FARP2	9855	broad.mit.edu	37	chr2	242401976	242401976	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctacttcatagtcaaagaGattctcgctacagaacgaac	14	9	7	11	2	3	2	2	0	1	2	4	4	3	2	1	0	4	1	1	0	6	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:242401976G>A	ENST00000264042.3	+	15	1796	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	FARP2_ENST00000545004.1_Silent_p.E542E|FARP2_ENST00000373287.4_Silent_p.E542E	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	542	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TAGTCAAAGAGATTCTCGCTA	0.453													9	50					0	0	0	0	A	242401976	G	A	242401976	2	1	303	1	0	0	0	0	0	0	0	1	5722	933	33	2		2	FARP2	2	242401976	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	21907664	242401976	797397	39	54258											
NICN1	84276	broad.mit.edu	37	chr3	49462293	49462293	+	Frame_Shift_Del	DEL	A	A	-																															taggagagcaagttcaggtcAtaacagccatccacctgaaa																										TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:49462293delA	ENST00000273598.3	-	6	701	c.615delT	c.(613-615)tafs	p.Y205fs	NICN1_ENST00000436744.2_Frame_Shift_Del_p.Y167fs	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	205						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTTCAGGTCATAACAGCCAT	0.507													17	15	---	---	---	---					-	49462293	A	-	49462293	7	5	303	1	0	1	0	1	0	0	0	0	10483	224	8	0	30	0	NICN1	3	49462293	Frame_Shift_Del	DEL	A	TCGA-CV-7407-01A-11D-2078-08		49462293	148560137	40	54259											
ITIH4	3700	broad.mit.edu	37	chr3	52860947	52860947	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaccgacacctggaactGctccatgtttctcccggtgg	7	10	10	14	2	1	1	0	1	1	0	3	3	2	2	4	3	2	2	4	3	1	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:52860947G>A	ENST00000266041.4	-	4	475	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	ITIH4_ENST00000346281.5_Nonsense_Mutation_p.Q127*|ITIH4_ENST00000434759.3_Nonsense_Mutation_p.Q39*|ITIH4_ENST00000406595.1_Nonsense_Mutation_p.Q127*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.Q127*	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	127	VIT.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCTGGAACTGCTCCATGTTT	0.607													9	41					0	0	0	0	A	52860947	G	A	52860947	4	1	303	1	0	0	0	0	0	1	0	0	7959	1328	46	4	2497	4	ITIH4	3	52860947	Nonsense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	3398654	52860947	145161483	41	54260											
ZIC1	7545	broad.mit.edu	37	chr3	147128517	147128517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaacgtgaacatggccgcGcatcacggcgccggcgcctt	8	6	13	14	7	1	2	1	2	0	0	1	2	1	2	3	3	2	1	3	3	2	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:147128517G>A	ENST00000282928.4	+	1	1347	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	206					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACATGGCCGCGCATCACGGCG	0.652													14	48					0	0	0	0	A	147128517	G	A	147128517	2	1	303	1	0	0	0	0	0	0	0	1	17773	1074	38	1		1	ZIC1	3	147128517	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	94267570	147128517	50893913	42	54261											
SI	6476	broad.mit.edu	37	chr3	164741544	164741544	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaaagtaacactcaggTgctttggatagagaagaacc	14	8	12	7	0	1	2	1	0	0	2	1	5	1	4	1	3	3	2	1	3	5	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:164741544T>A	ENST00000264382.3	-	26	2975	c.2913A>T	c.(2911-2913)gcA>gcT	p.A971A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	971	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AACACTCAGGTGCTTTGGATA	0.363										HNSCC(35;0.089)			18	90					0	0	0	0	A	164741544	T	A	164741544	2	1	303	1	0	0	0	0	0	0	0	1	14385	1683	59	5		5	SI	3	164741544	Silent	SNP	T	TCGA-CV-7407-01A-11D-2078-08	17613027	164741544	33280886	43	54262											
KIAA0226	9711	broad.mit.edu	37	chr3	197423824	197423845	+	Splice_Site	DEL	CCATATTCCATGTACAGAGAGC	CCATATTCCATGTACAGAGAGC	-																															cctggccttcctagtactcaCcatattccatgtacagagag																										TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:197423824_197423845delCCATATTCCATGTACAGAGAGC	ENST00000273582.5	-	9	1747_1768	c.1222_splice	c.e9+1	p.401_splice	KIAA0226_ENST00000389665.5_Splice_Site_p.446_splice|KIAA0226_ENST00000296343.5_Splice_Site_p.446_splice	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	446	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)		CTAGTACTCACCATATTCCATGTACAGAGAGCTGGGTGTGCT	0.486													7	27	---	---	---	---					-	197423845	CCATATTCCATGTACAGAGAGC	-	197423824	8	5	303	1	0	1	0	1	0	0	1	0	8213	521	18	0	1612	0	KIAA0226	3	197423824	Splice_Site	DEL	CCATATTCCATGTACAGAGAGC	TCGA-CV-7407-01A-11D-2078-08	32682280	197423824	598606	44	54263											
EVC	2121	broad.mit.edu	37	chr4	5755517	5755517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcaatcccagagtttGtccagcgaggcaaagacctg	10	12	9	10	1	1	2	1	0	0	2	3	3	3	2	3	1	1	2	3	1	2	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr4:5755517G>A	ENST00000382674.2	+	10	1505	c.1321G>A	c.(1321-1323)Gtc>Atc	p.V441I	EVC_ENST00000264956.6_Missense_Mutation_p.V441I|EVC_ENST00000509451.1_Missense_Mutation_p.V441I			P57679	EVC_HUMAN	Ellis van Creveld syndrome	441					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCCAGAGTTTGTCCAGCGAGG	0.552													5	91					0	0	0	0	A	5755517	G	A	5755517	3	1	303	1	0	0	0	0	1	0	0	0	5323	1377	48	4	1359	4	EVC	4	5755517	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08		5755517	185398759	45	54264											
ZNF518B	85460	broad.mit.edu	37	chr4	10444982	10444982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcattctggtaggtcaggcGtacatgatgccgtctgatgc	7	11	13	10	3	3	2	1	2	2	0	3	2	3	2	1	3	3	3	1	3	2	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr4:10444982G>A	ENST00000326756.3	-	3	3409	c.2971C>T	c.(2971-2973)Cgc>Tgc	p.R991C		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	991					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TAGGTCAGGCGTACATGATGC	0.383													16	51					0	0	0	0	A	10444982	G	A	10444982	3	1	303	1	0	0	0	0	1	0	0	0	18058	1145	40	1	257	1	ZNF518B	4	10444982	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	4689465	10444982	180709294	46	54265											
IRF2	3660	broad.mit.edu	37	chr4	185340660	185340660	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctaaagagtggtgcatcTttttccacatcccacccatg	9	14	6	12	0	2	1	0	0	2	1	4	1	4	1	3	1	1	1	3	1	2	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr4:185340660T>C	ENST00000393593.3	-	3	357	c.150A>G	c.(148-150)aaA>aaG	p.K50K	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	50					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTGGTGCATCTTTTTCCACAT	0.398													11	82					0	0	0	0	C	185340660	T	C	185340660	2	2	303	1	0	0	0	0	0	0	0	1	7881	1606	56	5		5	IRF2	4	185340660	Silent	SNP	T	TCGA-CV-7407-01A-11D-2078-08	174895678	185340660	5813616	47	54266											
ADCY2	108	broad.mit.edu	37	chr5	7695903	7695903	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttggctttacccggctggCaagtgactgctccccgggag	5	9	14	13	3	0	1	0	1	0	0	1	2	1	2	3	4	2	5	3	4	2	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:7695903C>A	ENST00000338316.4	+	6	997	c.908C>A	c.(907-909)gCa>gAa	p.A303E	ADCY2_ENST00000537121.1_Missense_Mutation_p.A123E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	303					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCCGGCTGGCAAGTGACTGC	0.428													15	14					2.32078e-09	2.59987e-09	1	0	A	7695903	C	A	7695903	3	1	303	1	0	0	0	0	1	0	0	0	294	710	25	4	930	4	ADCY2	5	7695903	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08		7695903	173219357	48	54267											
SEMA5A	9037	broad.mit.edu	37	chr5	9224908	9224908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatagagctccccaccaGctgtgaggagcgctgtggaa	10	6	13	12	1	0	2	0	1	0	1	1	4	1	4	3	2	4	4	3	2	2	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:9224908G>C	ENST00000382496.5	-	8	1189	c.524C>G	c.(523-525)gCt>gGt	p.A175G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	175	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTCCCCACCAGCTGTGAGGAG	0.572													15	19					0	0	0	0	C	9224908	G	C	9224908	3	2	303	1	0	0	0	0	1	0	0	0	14124	971	34	4	2764	4	SEMA5A	5	9224908	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	1529005	9224908	171690352	49	54268											
RICTOR	253260	broad.mit.edu	37	chr5	38950400	38950400	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaaaattcttggtgaattTtaagtcattttctccaatgc	12	16	5	8	0	3	1	1	1	2	0	4	1	3	1	2	1	1	0	2	1	5	6			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:38950400T>G	ENST00000357387.3	-	31	3580	c.3550A>C	c.(3550-3552)Aaa>Caa	p.K1184Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.K1184Q	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1184					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTGGTGAATTTTAAGTCATTT	0.368													29	137					0	0	0	0	G	38950400	T	G	38950400	3	3	303	1	0	0	0	0	1	0	0	0	13441	1850	64	5	1608	5	RICTOR	5	38950400	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08	29725492	38950400	141964860	50	54269											
CCNB1	891	broad.mit.edu	37	chr5	68467126	68467126	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctctccaagcccaatggaAacatctggatgtgcccctgc	9	8	9	15	0	2	0	0	0	2	0	3	2	2	2	5	2	4	0	5	2	3	0			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:68467126A>C	ENST00000256442.5	+	4	646	c.393A>C	c.(391-393)gaA>gaC	p.E131D		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	131					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCCCAATGGAAACATCTGGAT	0.423													3	46					0	0	0	0	C	68467126	A	C	68467126	3	2	303	1	0	0	0	0	1	0	0	0	2940	11	1	5	407	5	CCNB1	5	68467126	Missense_Mutation	SNP	A	TCGA-CV-7407-01A-11D-2078-08	29516726	68467126	112448134	51	54270											
FER	2241	broad.mit.edu	37	chr5	108233448	108233448	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactgaagcaaagttttcaGcacagaaggaattactagag	16	8	10	7	0	1	3	1	1	0	2	1	4	1	4	0	1	3	4	0	1	6	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:108233448G>C	ENST00000281092.4	+	10	1519	c.1135G>C	c.(1135-1137)Gca>Cca	p.A379P	FER_ENST00000438717.2_Missense_Mutation_p.A204P|FER_ENST00000536402.1_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	379					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAAGTTTTCAGCACAGAAGGA	0.398													4	23					0	0	0	0	C	108233448	G	C	108233448	3	2	303	1	0	0	0	0	1	0	0	0	5858	971	34	4	1165	4	FER	5	108233448	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	39766322	108233448	72681812	52	54271											
PCDHA1	56147	broad.mit.edu	37	chr5	140167440	140167440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggtgtacgcactgcagcCcctggaccacgaggagctgg	9	5	14	13	2	0	0	0	0	0	0	0	3	0	2	3	4	4	4	3	4	2	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:140167440C>T	ENST00000504120.2	+	1	1565	c.1565C>T	c.(1564-1566)cCc>cTc	p.P522L	PCDHA1_ENST00000378133.3_Missense_Mutation_p.P522L|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P522L	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGCAGCCCCTGGACCAC	0.677													39	35					0	0	0	0	T	140167440	C	T	140167440	3	4	303	1	0	0	0	0	1	0	0	0	11590	623	22	4	1567	4	PCDHA1	5	140167440	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	31933992	140167440	40747820	53	54272											
DOCK2	1794	broad.mit.edu	37	chr5	169508940	169508940	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaactctcagatggtgaCaagaagacactcacacggaa	15	6	8	12	1	2	4	2	1	1	3	4	5	3	5	1	2	1	0	1	2	4	0			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:169508940C>A	ENST00000256935.8	+	51	5462	c.5382C>A	c.(5380-5382)gaC>gaA	p.D1794E	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.D855E|DOCK2_ENST00000520908.1_Missense_Mutation_p.D1286E	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1794					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGATGGTGACAAGAAGACAC	0.542													5	38					0.000602214	0.000634476	1	0	A	169508940	C	A	169508940	3	1	303	1	0	0	0	0	1	0	0	0	4723	477	17	4	5584	4	DOCK2	5	169508940	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	29341500	169508940	11406320	54	54273											
RANBP17	64901	broad.mit.edu	37	chr5	170668104	170668104	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgacaatgtactccaggcTtttgtcaaaatgctgctgtc	9	15	8	9	0	1	1	1	1	0	0	3	1	2	1	1	1	3	4	1	1	4	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:170668104T>G	ENST00000523189.1	+	23	2759	c.2595T>G	c.(2593-2595)gcT>gcG	p.A865A	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	865					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TACTCCAGGCTTTTGTCAAAA	0.438			T	TRD@	ALL								32	96					0	0	0	0	G	170668104	T	G	170668104	2	3	303	1	0	0	0	0	0	0	0	1	13109	1596	56	5		5	RANBP17	5	170668104	Silent	SNP	T	TCGA-CV-7407-01A-11D-2078-08	1159164	170668104	10247156	55	54274											
DDX41	51428	broad.mit.edu	37	chr5	176939861	176939861	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccacgtctgccttcttcTctgcaaagatgagtacctgt	7	13	8	13	2	3	2	0	1	3	1	5	2	4	2	3	0	3	2	3	0	2	3	rs35272017		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:176939861T>C	ENST00000507955.1	-	13	1842	c.1319A>G	c.(1318-1320)gAg>gGg	p.E440G		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	440	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGCCTTCTTCTCTGCAAAGAT	0.607													11	68					0	0	0	0	C	176939861	T	C	176939861	3	2	303	1	0	0	0	0	1	0	0	0	4393	1551	54	5	569	5	DDX41	5	176939861	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08	6271757	176939861	3975399	56	54275											
HIST1H1T	3010	broad.mit.edu	37	chr6	26107762	26107762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaattttgacttcgaaGcccttgccttcactgggctc	6	13	10	12	1	2	1	2	1	0	0	4	2	2	1	2	2	2	1	2	2	2	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:26107762G>A	ENST00000338379.4	-	1	602	c.560C>T	c.(559-561)gCt>gTt	p.A187V		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	187					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TGACTTCGAAGCCCTTGCCTT	0.468													20	99					0	0	0	0	A	26107762	G	A	26107762	3	1	303	1	0	0	0	0	1	0	0	0	7177	971	34	4	67	4	HIST1H1T	6	26107762	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08		26107762	145007305	57	54276											
HIST1H2AL	8332	broad.mit.edu	37	chr6	27833180	27833180	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagctcgcgccaaagccaaGacccgctcttctcgtgccgg	9	6	10	16	5	2	1	0	0	2	1	4	1	2	1	4	1	3	2	4	1	3	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:27833180G>A	ENST00000357320.2	+	1	147	c.48G>A	c.(46-48)aaG>aaA	p.K16K		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	16					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CCAAAGCCAAGACCCGCTCTT	0.637													13	101					0	0	0	0	A	27833180	G	A	27833180	2	1	303	1	0	0	0	0	0	0	0	1	7188	933	33	2		2	HIST1H2AL	6	27833180	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	1725418	27833180	143281887	58	54277											
PGBD1	84547	broad.mit.edu	37	chr6	28268549	28268549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcctattgctactgaaagGacagttgcacatttgaacac	13	11	7	10	0	0	2	0	2	0	0	1	3	1	3	1	1	4	3	1	1	4	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:28268549G>A	ENST00000405948.2	+	7	1338	c.918G>A	c.(916-918)agG>agA	p.R306R	PGBD1_ENST00000259883.3_Silent_p.R306R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	306					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTACTGAAAGGACAGTTGCAC	0.448													4	53					0	0	0	0	A	28268549	G	A	28268549	2	1	303	1	0	0	0	0	0	0	0	1	11852	1165	41	2		2	PGBD1	6	28268549	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	435369	28268549	142846518	59	54278											
COL11A2	1302	broad.mit.edu	37	chr6	33156845	33156845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	catacaggaagcggacaggtCggcccagctccaggcccagc	10	3	13	15	2	0	0	0	0	0	0	2	2	1	2	3	5	4	1	3	5	2	1	rs41268014	byFrequency	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:33156845C>G	ENST00000341947.2	-	3	580	c.353G>C	c.(352-354)cGa>cCa	p.R118P	COL11A2_ENST00000395194.1_Missense_Mutation_p.R118P|COL11A2_ENST00000395197.1_Missense_Mutation_p.R118P|COL11A2_ENST00000374712.1_Missense_Mutation_p.R118P|COL11A2_ENST00000374713.1_Missense_Mutation_p.R118P|COL11A2_ENST00000374714.1_Missense_Mutation_p.R118P|COL11A2_ENST00000357486.1_Missense_Mutation_p.R118P|COL11A2_ENST00000361917.1_Missense_Mutation_p.R118P|COL11A2_ENST00000374708.4_Missense_Mutation_p.R118P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	118	TSP N-terminal.				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						GCGGACAGGTCGGCCCAGCTC	0.617													4	84					0	0	0	0	G	33156845	C	G	33156845	3	3	303	1	0	0	0	0	1	0	0	0	3698	884	31	3	5188	3	COL11A2	6	33156845	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	4888296	33156845	137958222	60	54279											
SLC26A8	116369	broad.mit.edu	37	chr6	35919038	35919038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgacaaggcaaacagcaCggcgtcgtgaacgctgagga	12	5	13	11	4	0	3	0	3	0	0	1	4	0	4	1	3	3	3	1	3	3	1	rs115071158	by1000genomes	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:35919038C>T	ENST00000490799.1	-	19	2727	c.2374G>A	c.(2374-2376)Gtg>Atg	p.V792M	SLC26A8_ENST00000355574.2_Missense_Mutation_p.V792M|SLC26A8_ENST00000394602.2_Missense_Mutation_p.V687M	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	792	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.V792M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GCAAACAGCACGGCGTCGTGA	0.488													12	50					0	0	0	0	T	35919038	C	T	35919038	3	4	303	1	0	0	0	0	1	0	0	0	14611	536	19	1	546	1	SLC26A8	6	35919038	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	2762193	35919038	135196029	61	54280											
TCTE1	202500	broad.mit.edu	37	chr6	44253954	44253954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccgggagctgcaccggcGgaaggaactgatcgacgtgg	8	4	19	10	5	0	1	0	1	0	0	1	5	0	4	2	6	3	2	2	6	2	0			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:44253954G>A	ENST00000371505.4	-	3	715	c.593C>T	c.(592-594)cCg>cTg	p.P198L	TCTE1_ENST00000371504.1_Missense_Mutation_p.P45L|TCTE1_ENST00000371503.3_Missense_Mutation_p.P45L|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	198										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCACCGGCGGAAGGAACTG	0.657													6	33					0	0	0	0	A	44253954	G	A	44253954	3	1	303	1	0	0	0	0	1	0	0	0	15811	1116	39	1	924	1	TCTE1	6	44253954	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	8334916	44253954	126861113	62	54281											
MDN1	23195	broad.mit.edu	37	chr6	90482425	90482425	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggacggccgtgtagcagcGaaagtgaacttctccctggg	9	7	15	10	3	1	1	0	1	1	0	2	4	1	2	2	3	3	2	2	3	3	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:90482425G>A	ENST00000369393.3	-	14	2065	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	MDN1_ENST00000428876.1_Silent_p.F650F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	650					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGTAGCAGCGAAAGTGAACT	0.498													10	51					0	0	0	0	A	90482425	G	A	90482425	2	1	303	1	0	0	0	0	0	0	0	1	9484	1049	37	1		1	MDN1	6	90482425	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	46228471	90482425	80632642	63	54282											
GPR63	81491	broad.mit.edu	37	chr6	97246956	97246956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaaggtatctgcaggtcggGgtttcctacggctaaaggaa	10	9	15	7	2	1	0	0	0	1	0	3	2	2	2	1	7	2	4	1	7	6	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:97246956G>A	ENST00000229955.3	-	2	997	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	GPR63_ENST00000417980.1_Missense_Mutation_p.P218S	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	218						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TGCAGGTCGGGGTTTCCTACG	0.463													11	52					0	0	0	0	A	97246956	G	A	97246956	3	1	303	1	0	0	0	0	1	0	0	0	6753	1232	43	4	611	4	GPR63	6	97246956	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	6764531	97246956	73868111	64	54283											
SYNE1	23345	broad.mit.edu	37	chr6	152651117	152651117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgagctctgccttcactctCctcagccagtccagggagcg	6	9	10	16	1	4	1	2	1	2	0	6	2	5	2	4	1	4	1	4	1	0	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:152651117C>T	ENST00000367255.5	-	78	15304	c.14703G>A	c.(14701-14703)agG>agA	p.R4901R	SYNE1_ENST00000448038.1_Silent_p.R4830R|SYNE1_ENST00000265368.4_Silent_p.R4901R|SYNE1_ENST00000341594.5_Silent_p.R4648R|SYNE1_ENST00000423061.1_Silent_p.R4830R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4901					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTCACTCTCCTCAGCCAGT	0.517										HNSCC(10;0.0054)			23	59					0	0	0	0	T	152651117	C	T	152651117	2	4	303	1	0	0	0	0	0	0	0	1	15536	854	30	2		2	SYNE1	6	152651117	Silent	SNP	C	TCGA-CV-7407-01A-11D-2078-08	55404161	152651117	18463950	65	54284											
ZNF716	441234	broad.mit.edu	37	chr7	57528634	57528634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagctacccaaaacaaaaCatttcagactcataaatgcg	17	8	5	11	1	3	1	3	0	0	1	3	1	3	1	1	0	5	1	1	0	7	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:57528634C>T	ENST00000420713.1	+	4	579	c.467C>T	c.(466-468)aCa>aTa	p.T156I		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAAACAAAACATTTCAGACT	0.323													6	10					0	0	0	0	T	57528634	C	T	57528634	3	4	303	1	0	0	0	0	1	0	0	0	18214	478	17	4	481	4	ZNF716	7	57528634	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08		57528634	101610029	66	54285											
ZNF804B	219578	broad.mit.edu	37	chr7	88963965	88963965	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatataatttggactacAgtgattctgagccaaataag	16	11	9	5	0	1	2	0	2	1	0	1	4	1	4	1	2	2	0	1	2	6	6			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:88963965A>C	ENST00000333190.4	+	4	2278	c.1669A>C	c.(1669-1671)Agt>Cgt	p.S557R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	557						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTGGACTACAGTGATTCTGA	0.343										HNSCC(36;0.09)			7	48					0	0	0	0	C	88963965	A	C	88963965	3	2	303	1	0	0	0	0	1	0	0	0	18264	188	7	5	1683	5	ZNF804B	7	88963965	Missense_Mutation	SNP	A	TCGA-CV-7407-01A-11D-2078-08	31435331	88963965	70174698	67	54286											
TRRAP	8295	broad.mit.edu	37	chr7	98580905	98580905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcagcccagcaaatcatcGaactccaggaagctgcacaa	15	4	9	13	1	1	0	1	0	0	0	3	2	2	1	2	2	5	4	2	2	4	0			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:98580905G>A	ENST00000359863.4	+	59	9033	c.8824G>A	c.(8824-8826)Gaa>Aaa	p.E2942K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E2924K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E2924K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2942	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCAAATCATCGAACTCCAGGA	0.517													6	19					0	0	0	0	A	98580905	G	A	98580905	3	1	303	1	0	0	0	0	1	0	0	0	16696	1059	37	1	8996	1	TRRAP	7	98580905	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	9616940	98580905	60557758	68	54287											
CUX1	1523	broad.mit.edu	37	chr7	101559503	101559503	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcaagaagaacactccaGaggtgaggcgcgtgaccatc	13	6	12	10	2	1	5	1	2	0	3	3	5	2	5	2	2	1	1	2	2	3	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:101559503G>T	ENST00000360264.3	+	2	192	c.172G>T	c.(172-174)Gag>Tag	p.E58*	CUX1_ENST00000549414.2_Nonsense_Mutation_p.E47*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.E58*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.E47*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.E47*|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Nonsense_Mutation_p.E58*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.E58*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.E47*|CUX1_ENST00000425244.2_Nonsense_Mutation_p.E58*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.E47*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	47					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAACACTCCAGAGGTGAGGCG	0.532													7	55					0.00198382	0.0020655	1	0	T	101559503	G	T	101559503	4	4	303	1	0	0	0	0	0	1	0	0	4096	943	33	2	212	2	CUX1	7	101559503	Nonsense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	2978598	101559503	57579160	69	54288											
FBXL13	222235	broad.mit.edu	37	chr7	102523890	102523890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcttgtctataaatttgaagGatgcatcagtaaccctttta	12	16	6	7	0	3	1	1	1	2	0	3	2	3	2	1	1	2	2	1	1	6	7			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:102523890G>C	ENST00000393772.2	-	14	1676	c.1250C>G	c.(1249-1251)tCc>tGc	p.S417C	FBXL13_ENST00000455112.2_Missense_Mutation_p.S417C|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.S417C|FBXL13_ENST00000379308.3_Missense_Mutation_p.S417C|FBXL13_ENST00000313221.4_Missense_Mutation_p.S417C|FBXL13_ENST00000436908.1_Missense_Mutation_p.S417C			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	417										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						AAATTTGAAGGATGCATCAGT	0.343													14	37					0	0	0	0	C	102523890	G	C	102523890	3	2	303	1	0	0	0	0	1	0	0	0	5754	1174	41	2	985	2	FBXL13	7	102523890	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	964387	102523890	56614773	70	54289											
RELN	5649	broad.mit.edu	37	chr7	103138354	103138354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttctcactaccgatgcGcccccagtattgcaggaacc	8	10	9	14	2	1	0	1	0	1	0	2	2	1	1	4	1	4	4	4	1	3	5	rs114501042	by1000genomes	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:103138354G>A	ENST00000428762.1	-	55	9022	c.8863C>T	c.(8863-8865)Cgc>Tgc	p.R2955C	RELN_ENST00000343529.5_Missense_Mutation_p.R2955C|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.R2955C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2955					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTACCGATGCGCCCCCAGTAT	0.468													11	37					0	0	0	0	A	103138354	G	A	103138354	3	1	303	1	0	0	0	0	1	0	0	0	13302	1087	38	1	1563	1	RELN	7	103138354	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	614464	103138354	56000309	71	54290											
TFEC	22797	broad.mit.edu	37	chr7	115580975	115580975	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccatgagtacgagcctgaAtttctagttcctgtaatttc	10	14	8	9	1	1	2	0	2	1	0	3	4	2	2	3	0	2	3	3	0	4	6			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:115580975A>C	ENST00000265440.7	-	8	854	c.674T>G	c.(673-675)aTt>aGt	p.I225S	TFEC_ENST00000320239.7_Missense_Mutation_p.I196S|TFEC_ENST00000457268.1_Missense_Mutation_p.I158S|TFEC_ENST00000393485.1_3'UTR	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	225						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACGAGCCTGAATTTCTAGTTC	0.388													9	61					0	0	0	0	C	115580975	A	C	115580975	3	2	303	1	0	0	0	0	1	0	0	0	15896	101	4	5	373	5	TFEC	7	115580975	Missense_Mutation	SNP	A	TCGA-CV-7407-01A-11D-2078-08	12442621	115580975	43557688	72	54291											
FEZF1	389549	broad.mit.edu	37	chr7	121943895	121943895	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaccagtttattcctttcGgctaaatacgtttttggctg	8	16	7	10	2	0	0	0	0	0	0	2	0	1	0	3	2	1	4	3	2	4	8			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:121943895G>A	ENST00000442488.2	-	1	664	c.597C>T	c.(595-597)gcC>gcT	p.A199A	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Silent_p.A149A|FEZF1_ENST00000331178.4_Silent_p.A199A	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	199					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TATTCCTTTCGGCTAAATACG	0.557													4	42					0	0	0	0	A	121943895	G	A	121943895	2	1	303	1	0	0	0	0	0	0	0	1	5870	1103	39	1		1	FEZF1	7	121943895	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	6362920	121943895	37194768	73	54292											
GRM8	2918	broad.mit.edu	37	chr7	126882949	126882949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtgtccctagagcacgtgtCgaggatgcggacacccagag	9	6	15	11	3	0	2	0	0	0	2	2	5	1	4	2	3	2	1	2	3	1	1	rs147289844		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:126882949C>G	ENST00000339582.2	-	2	1118	c.310G>C	c.(310-312)Gac>Cac	p.D104H	GRM8_ENST00000358373.3_Missense_Mutation_p.D104H|GRM8_ENST00000405249.1_Missense_Mutation_p.D104H|GRM8_ENST00000444921.2_Missense_Mutation_p.D104H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	104					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GAGCACGTGTCGAGGATGCGG	0.478										HNSCC(24;0.065)			11	39					0	0	0	0	G	126882949	C	G	126882949	3	3	303	1	0	0	0	0	1	0	0	0	6853	884	31	3	2506	3	GRM8	7	126882949	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	4939054	126882949	32255714	74	54293											
GRM8	2918	broad.mit.edu	37	chr7	126883115	126883115	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacagggaagagacccccCaaaataatgtccccatccac	14	5	8	14	0	0	1	0	0	0	1	2	4	2	3	6	2	0	0	6	2	4	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:126883115C>T	ENST00000339582.2	-	2	952	c.144G>A	c.(142-144)ttG>ttA	p.L48L	GRM8_ENST00000358373.3_Silent_p.L48L|GRM8_ENST00000405249.1_Silent_p.L48L|GRM8_ENST00000444921.2_Silent_p.L48L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	48					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGAGACCCCCCAAAATAATGT	0.527										HNSCC(24;0.065)			13	84					0	0	0	0	T	126883115	C	T	126883115	2	4	303	1	0	0	0	0	0	0	0	1	6853	593	21	4		4	GRM8	7	126883115	Silent	SNP	C	TCGA-CV-7407-01A-11D-2078-08	166	126883115	32255548	75	54294											
ERICH1	157697	broad.mit.edu	37	chr8	614671	614671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagctgagattactctggCatggtctagaaagcaaaaaa	17	8	10	6	0	2	2	0	1	2	2	2	4	2	2	0	2	3	3	0	2	7	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:614671C>T	ENST00000262109.7	-	6	1341	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	ERICH1_ENST00000522706.1_Intron	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	422										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		ATTACTCTGGCATGGTCTAGA	0.348													4	43					0	0	0	0	T	614671	C	T	614671	3	4	303	1	0	0	0	0	1	0	0	0	5268	710	25	4	71	4	ERICH1	8	614671	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08		614671	145749351	76	54295											
TRIM35	23087	broad.mit.edu	37	chr8	27146779	27146779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctggactggctctggCtccatggtgcagaagagtct	6	9	15	11	1	2	2	0	0	2	2	3	3	3	3	2	5	1	4	2	5	1	0			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:27146779C>A	ENST00000305364.4	-	5	887	c.804G>T	c.(802-804)gaG>gaT	p.E268D	TRIM35_ENST00000521253.1_Missense_Mutation_p.A229S	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	268					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CTGGCTCTGGCTCCATGGTGC	0.567													3	15					0.004672	0.00480781	1	0	A	27146779	C	A	27146779	3	1	303	1	0	0	0	0	1	0	0	0	16604	796	28	4	685	4	TRIM35	8	27146779	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	26532108	27146779	119217243	77	54296											
EYA1	2138	broad.mit.edu	37	chr8	72211931	72211931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aattatttcctgtatatattCctgatgatgttgtaaaactg	12	18	6	5	0	0	2	0	2	0	0	2	2	2	2	2	0	1	3	2	0	7	8			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:72211931C>T	ENST00000340726.3	-	8	1220	c.581G>A	c.(580-582)gGa>gAa	p.G194E	EYA1_ENST00000419131.1_Missense_Mutation_p.G189E|EYA1_ENST00000388743.2_Missense_Mutation_p.G193E|EYA1_ENST00000388741.2_Missense_Mutation_p.G160E|EYA1_ENST00000388740.3_Missense_Mutation_p.G161E|EYA1_ENST00000303824.7_Missense_Mutation_p.G188E|EYA1_ENST00000388742.4_Missense_Mutation_p.G194E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	194					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGTATATATTCCTGATGATGT	0.303													37	55					0	0	0	0	T	72211931	C	T	72211931	3	4	303	1	0	0	0	0	1	0	0	0	5366	855	30	2	1241	2	EYA1	8	72211931	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	45065152	72211931	74152091	78	54297											
ZFHX4	79776	broad.mit.edu	37	chr8	77764068	77764068	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgtggctggtgggcacagCattgcagcaaatgtcaacag	11	8	13	9	0	1	0	1	0	0	0	1	0	1	0	0	3	4	5	0	3	2	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:77764068C>T	ENST00000521891.2	+	10	5359	c.4911C>T	c.(4909-4911)agC>agT	p.S1637S	ZFHX4_ENST00000518282.1_Silent_p.S1611S|ZFHX4_ENST00000050961.6_Silent_p.S1592S|ZFHX4_ENST00000455469.2_Silent_p.S1592S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1592						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGGGCACAGCATTGCAGCAA	0.488										HNSCC(33;0.089)			4	45					0	0	0	0	T	77764068	C	T	77764068	2	4	303	1	0	0	0	0	0	0	0	1	17730	709	25	4		4	ZFHX4	8	77764068	Silent	SNP	C	TCGA-CV-7407-01A-11D-2078-08	5552137	77764068	68599954	79	54298											
PTPRD	5789	broad.mit.edu	37	chr9	8507393	8507393	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagagcaaaatacttgtttCagactcaggttctgctttga	12	13	9	7	0	3	3	2	1	1	2	3	4	3	3	0	1	3	4	0	1	3	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:8507393C>G	ENST00000381196.4	-	19	2128	c.1585G>C	c.(1585-1587)Gaa>Caa	p.E529Q	PTPRD_ENST00000355233.5_Missense_Mutation_p.E529Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.E519Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.E526Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.E519Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.E529Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.E516Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.E526Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.E516Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.E529Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.E529Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	529	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATACTTGTTTCAGACTCAGGT	0.448										TSP Lung(15;0.13)			7	261					0	0	0	0	G	8507393	C	G	8507393	3	3	303	1	0	0	0	0	1	0	0	0	12881	835	29	2	4321	2	PTPRD	9	8507393	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08		8507393	132706038	80	54299											
FREM1	158326	broad.mit.edu	37	chr9	14842546	14842546	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtgacggatgctgtgatgGccatcaaatatccggaagac	11	10	12	8	2	1	3	1	2	0	1	2	5	2	5	2	3	1	1	2	3	3	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:14842546G>A	ENST00000380881.4	-	10	2324	c.1509C>T	c.(1507-1509)ggC>ggT	p.G503G	FREM1_ENST00000422223.2_Silent_p.G502G|FREM1_ENST00000380880.3_Silent_p.G502G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	502					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCTGTGATGGCCATCAAATA	0.507													10	278					0	0	0	0	A	14842546	G	A	14842546	2	1	303	1	0	0	0	0	0	0	0	1	6092	1190	42	4		4	FREM1	9	14842546	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	6335153	14842546	126370885	81	54300											
KIF27	55582	broad.mit.edu	37	chr9	86495230	86495230	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actttgattttttgctggtcCcgcttaattactgcatccag	7	17	7	10	1	0	1	0	1	0	0	2	1	2	1	2	1	3	3	2	1	2	6			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:86495230C>T	ENST00000297814.2	-	11	2768	c.2625G>A	c.(2623-2625)cgG>cgA	p.R875R	KIF27_ENST00000376347.1_Silent_p.R266R|KIF27_ENST00000334204.2_Silent_p.R875R|KIF27_ENST00000413982.1_Intron	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	875					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTTGCTGGTCCCGCTTAATTA	0.353													4	77					0	0	0	0	T	86495230	C	T	86495230	2	4	303	1	0	0	0	0	0	0	0	1	8347	610	22	4		4	KIF27	9	86495230	Silent	SNP	C	TCGA-CV-7407-01A-11D-2078-08	71652684	86495230	54718201	82	54301											
SECISBP2	79048	broad.mit.edu	37	chr9	91953402	91953402	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacaaggtagtgaccttgaAcaaaatgaagcctcaagaaa	18	7	8	8	0	2	4	2	3	0	1	2	4	2	4	2	1	2	1	2	1	8	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:91953402A>T	ENST00000375807.3	+	8	1190	c.1119A>T	c.(1117-1119)gaA>gaT	p.E373D	SECISBP2_ENST00000534113.2_Missense_Mutation_p.E305D|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E300D	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	373					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GTGACCTTGAACAAAATGAAG	0.333													8	60					0	0	0	0	T	91953402	A	T	91953402	3	4	303	1	0	0	0	0	1	0	0	0	14093	40	2	5	1149	5	SECISBP2	9	91953402	Missense_Mutation	SNP	A	TCGA-CV-7407-01A-11D-2078-08	5458172	91953402	49260029	83	54302											
FANCC	2176	broad.mit.edu	37	chr9	97897696	97897696	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactggagattagcttttCaaaaagatgcagcattgctt	12	13	8	8	0	2	2	2	0	0	2	2	3	2	2	0	1	4	4	0	1	3	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:97897696C>A	ENST00000289081.3	-	8	1029	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	FANCC_ENST00000375305.1_Nonsense_Mutation_p.E259*	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	259					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				ATTAGCTTTTCAAAAAGATGC	0.428			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	39					0.000442599	0.000471928	1	0	A	97897696	C	A	97897696	4	1	303	1	0	0	0	0	0	1	0	0	5709	835	29	2	933	2	FANCC	9	97897696	Nonsense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	5944294	97897696	43315735	84	54303											
LRRC8A	56262	broad.mit.edu	37	chr9	131670584	131670584	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctgcacctcattgacCaatacgacccgctctactcc	9	10	5	17	2	3	1	2	1	1	0	4	2	4	1	4	0	4	3	4	0	3	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:131670584C>G	ENST00000259324.5	+	3	1664	c.1141C>G	c.(1141-1143)Caa>Gaa	p.Q381E	LRRC8A_ENST00000372599.3_Missense_Mutation_p.Q381E|LRRC8A_ENST00000372600.4_Missense_Mutation_p.Q381E	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	381					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CCTCATTGACCAATACGACCC	0.562													6	65					0	0	0	0	G	131670584	C	G	131670584	3	3	303	1	0	0	0	0	1	0	0	0	9085	595	21	4	1143	4	LRRC8A	9	131670584	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	33772888	131670584	9542847	85	54304											
PLXDC2	84898	broad.mit.edu	37	chr10	20335831	20335831	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaattactatatatctcgaAtatatggtccatctgattct	13	16	4	8	1	3	1	0	1	3	0	5	2	4	1	1	1	1	0	1	1	8	7			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:20335831A>G	ENST00000377252.3	+	3	1199	c.358A>G	c.(358-360)Ata>Gta	p.I120V	PLXDC2_ENST00000377242.3_Intron|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	120						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TATATCTCGAATATATGGTCC	0.328													11	88					0	0	0	0	G	20335831	A	G	20335831	3	3	303	1	0	0	0	0	1	0	0	0	12190	101	4	5	368	5	PLXDC2	10	20335831	Missense_Mutation	SNP	A	TCGA-CV-7407-01A-11D-2078-08		20335831	115198916	86	54305											
GPR158	57512	broad.mit.edu	37	chr10	25861578	25861578	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgaacttttgcttttctagGgttttgaaggtgtttctttc	5	22	9	5	0	2	2	0	2	2	0	3	2	2	2	0	2	2	3	0	2	3	10			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:25861578G>T	ENST00000376351.3	+	7	1874	c.1514_splice	c.e7-1	p.R505_splice		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	505						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCTTTTCTAGGGTTTTGAAGG	0.368													12	67					1.5842e-08	1.76354e-08	1	0	T	25861578	G	T	25861578	5	4	303	1	0	0	0	0	0	0	1	0	6712	1246	43	4	1541	4	GPR158	10	25861578	Splice_Site	SNP	G	TCGA-CV-7407-01A-11D-2078-08	5525747	25861578	109673169	87	54306											
GDF10	2662	broad.mit.edu	37	chr10	48428782	48428782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctcggctcatcccactgCttcctccgggctttctgcat	4	12	7	18	2	2	0	1	0	1	0	6	0	5	0	4	2	2	4	4	2	0	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:48428782C>T	ENST00000224605.2	-	2	1369	c.1104G>A	c.(1102-1104)aaG>aaA	p.K368K		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	368					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CATCCCACTGCTTCCTCCGGG	0.572													26	39					0	0	0	0	T	48428782	C	T	48428782	2	4	303	1	0	0	0	0	0	0	0	1	6362	796	28	4		4	GDF10	10	48428782	Silent	SNP	C	TCGA-CV-7407-01A-11D-2078-08	22567204	48428782	87105965	88	54307											
SORCS1	114815	broad.mit.edu	37	chr10	108338906	108338906	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcctccttagttcagTctgagggacattgggcctgc	6	10	13	12	0	2	1	1	1	1	0	3	2	3	2	4	3	1	1	4	3	1	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:108338906T>G	ENST00000344440.6	-	26	3474	c.3475A>C	c.(3475-3477)Act>Cct	p.T1159P	SORCS1_ENST00000263054.6_Intron|SORCS1_ENST00000369698.1_Missense_Mutation_p.T694P	NM_001013031.2|NM_001206569.1|NM_001206571.1|NM_001206572.1	NP_001013049.1|NP_001193498.1|NP_001193500.1|NP_001193501.1	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	0						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTTAGTTCAGTCTGAGGGACA	0.498													3	63					0	0	0	0	G	108338906	T	G	108338906	3	3	303	1	0	0	0	0	1	0	0	0	15018	1667	58	5	269	5	SORCS1	10	108338906	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08	59910124	108338906	27195841	89	54308											
NRAP	4892	broad.mit.edu	37	chr10	115365978	115365978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtttttgctcggatgaactCgggcagacccagggtcattg	7	11	13	10	3	1	2	1	1	0	1	3	3	1	3	1	3	2	3	1	3	1	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:115365978C>T	ENST00000369358.4	-	33	4034	c.3790G>A	c.(3790-3792)Gag>Aag	p.E1264K	NRAP_ENST00000359988.3_Missense_Mutation_p.E1256K|NRAP_ENST00000360478.3_Missense_Mutation_p.E1221K|NRAP_ENST00000369360.3_Missense_Mutation_p.E1229K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1256						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CGGATGAACTCGGGCAGACCC	0.438													20	29					0	0	0	0	T	115365978	C	T	115365978	3	4	303	1	0	0	0	0	1	0	0	0	10709	893	31	1	1466	1	NRAP	10	115365978	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	7027072	115365978	20168769	90	54309											
MRGPRX3	117195	broad.mit.edu	37	chr11	18158851	18158851	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcttcacggggctgacGtgcatcgtttcccttgtcgc	4	12	12	13	4	1	2	1	2	0	0	4	2	2	2	1	2	2	4	1	2	0	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:18158851G>A	ENST00000396275.2	+	3	463	c.102G>A	c.(100-102)acG>acA	p.T34T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	34						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CGGGGCTGACGTGCATCGTTT	0.572													16	103					0	0	0	0	A	18158851	G	A	18158851	2	1	303	1	0	0	0	0	0	0	0	1	9838	1132	40	1		1	MRGPRX3	11	18158851	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08		18158851	116847665	91	54310											
GAS2	2620	broad.mit.edu	37	chr11	22696395	22696395	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcttttgtttccaaaacaGgtattacaagtggataaata	14	14	7	6	0	1	0	0	0	1	0	2	1	2	1	1	2	2	3	1	2	8	7			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:22696395G>A	ENST00000454584.2	+	2	285		c.e2-1		GAS2_ENST00000433790.1_5'UTR|GAS2_ENST00000533092.1_Splice_Site|GAS2_ENST00000278187.3_Splice_Site	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2						cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTCCAAAACAGGTATTACAAG	0.418													8	20					0	0	0	0	A	22696395	G	A	22696395	5	1	303	1	0	0	0	0	0	0	1	0	6294	1014	35	4		4	GAS2	11	22696395	Splice_Site	SNP	G	TCGA-CV-7407-01A-11D-2078-08	4537544	22696395	112310121	92	54311											
MRPL16	54948	broad.mit.edu	37	chr11	59575303	59575303	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaataaatctaagcttgggTttttcaggaatggaaacatc	14	13	8	6	0	3	0	2	0	1	0	4	2	3	2	0	3	2	2	0	3	6	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:59575303T>G	ENST00000300151.4	-	3	354	c.141A>C	c.(139-141)aaA>aaC	p.K47N		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	47							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						TAAGCTTGGGTTTTTCAGGAA	0.368													11	160					0	0	0	0	G	59575303	T	G	59575303	3	3	303	1	0	0	0	0	1	0	0	0	9851	1722	60	5	622	5	MRPL16	11	59575303	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08	36878908	59575303	75431213	93	54312											
MS4A15	219995	broad.mit.edu	37	chr11	60543106	60543106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgccaaacgccttcaGcgcagacttcaacatcccca	10	8	5	18	2	2	1	2	0	0	1	4	1	4	1	5	0	4	1	5	0	2	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:60543106G>A	ENST00000405633.3	+	7	720	c.641G>A	c.(640-642)aGc>aAc	p.S214N	MS4A15_ENST00000337911.4_Missense_Mutation_p.S121N|MS4A15_ENST00000528170.1_Missense_Mutation_p.S173N	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	214						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						AACGCCTTCAGCGCAGACTTC	0.577											OREG0020991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	156					0	0	0	0	A	60543106	G	A	60543106	3	1	303	1	0	0	0	0	1	0	0	0	9929	971	34	4	663	4	MS4A15	11	60543106	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	967803	60543106	74463410	94	54313											
AHNAK	79026	broad.mit.edu	37	chr11	62298958	62298958	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactgacatctacttttggGcctttcaggtccccttccag	6	13	8	14	0	2	1	1	1	1	0	4	1	4	1	4	2	1	1	4	2	1	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:62298958G>A	ENST00000378024.4	-	5	3205	c.2931C>T	c.(2929-2931)ggC>ggT	p.G977G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	977					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTACTTTTGGGCCTTTCAGGT	0.463													24	104					0	0	0	0	A	62298958	G	A	62298958	2	1	303	1	0	0	0	0	0	0	0	1	414	1190	42	4		4	AHNAK	11	62298958	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	1755852	62298958	72707558	95	54314											
SLC22A12	116085	broad.mit.edu	37	chr11	64361159	64361159	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgatgaccttgaactcTctgggcttcagcttcggcca	6	13	11	11	1	2	3	1	3	1	0	4	3	2	3	2	3	2	2	2	3	1	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:64361159T>C	ENST00000377574.1	+	4	1461	c.714T>C	c.(712-714)tcT>tcC	p.S238S	SLC22A12_ENST00000336464.7_Silent_p.S204S|SLC22A12_ENST00000473690.1_Silent_p.S17S|SLC22A12_ENST00000377572.1_Intron|SLC22A12_ENST00000377567.2_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	238					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CCTTGAACTCTCTGGGCTTCA	0.642													10	29					0	0	0	0	C	64361159	T	C	64361159	2	2	303	1	0	0	0	0	0	0	0	1	14531	1538	54	5		5	SLC22A12	11	64361159	Silent	SNP	T	TCGA-CV-7407-01A-11D-2078-08	2062201	64361159	70645357	96	54315											
ALKBH8	91801	broad.mit.edu	37	chr11	107427562	107427562	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actacttcttttccattgagGgtaacataggctctcttaga	10	15	7	9	0	2	2	0	1	2	1	4	2	3	2	1	2	2	2	1	2	4	8			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:107427562G>A	ENST00000428149.2	-	3	448	c.297C>T	c.(295-297)acC>acT	p.T99T	ALKBH8_ENST00000429370.1_Silent_p.T99T|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000417449.2_Silent_p.T102T|ALKBH8_ENST00000389568.3_Silent_p.T99T	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	99	RRM.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TTCCATTGAGGGTAACATAGG	0.348													5	33					0	0	0	0	A	107427562	G	A	107427562	2	1	303	1	0	0	0	0	0	0	0	1	533	1219	43	4		4	ALKBH8	11	107427562	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	43066403	107427562	27578954	97	54316											
ARHGEF12	23365	broad.mit.edu	37	chr11	120346103	120346103	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttacaaaagcaggatgAtagactggttttaaggtgtc	13	13	11	4	0	0	2	0	1	0	1	1	3	0	3	0	3	2	3	0	3	5	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:120346103A>T	ENST00000397843.2	+	33	3330	c.3164A>T	c.(3163-3165)gAt>gTt	p.D1055V	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D952V|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D1036V	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1055	PH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAGCAGGATGATAGACTGGTT	0.373			T	MLL	AML								8	69					0	0	0	0	T	120346103	A	T	120346103	3	4	303	1	0	0	0	0	1	0	0	0	899	333	12	5	3294	5	ARHGEF12	11	120346103	Missense_Mutation	SNP	A	TCGA-CV-7407-01A-11D-2078-08	12918541	120346103	14660413	98	54317											
ROBO3	64221	broad.mit.edu	37	chr11	124744033	124744033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagacacacacagtcagcGgtctgcagcccaataccatc	12	6	9	14	1	2	1	1	0	1	1	3	2	2	1	2	2	4	1	2	2	2	1	rs74787566	by1000genomes	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:124744033G>A	ENST00000397801.1	+	12	2044	c.1852G>A	c.(1852-1854)Ggt>Agt	p.G618S	ROBO3_ENST00000538940.1_Missense_Mutation_p.G596S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	618	Fibronectin type-III 1.				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)		CACAGTCAGCGGTCTGCAGCC	0.587													6	73					0	0	0	0	A	124744033	G	A	124744033	3	1	303	1	0	0	0	0	1	0	0	0	13600	1116	39	1	1898	1	ROBO3	11	124744033	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	4397930	124744033	10262483	99	54318											
B4GALNT3	283358	broad.mit.edu	37	chr12	653525	653525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccggggccgtgccaacctGcatgtgtttgaagactggtg	6	11	14	10	2	0	2	0	1	0	1	1	2	1	2	4	3	3	2	4	3	2	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:653525G>A	ENST00000266383.5	+	4	385	c.372G>A	c.(370-372)ctG>ctA	p.L124L	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	124						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)			GTGCCAACCTGCATGTGTTTG	0.632													9	75					0	0	0	0	A	653525	G	A	653525	2	1	303	1	0	0	0	0	0	0	0	1	1272	1306	46	4		4	B4GALNT3	12	653525	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08		653525	133198370	100	54319											
ZBTB39	9880	broad.mit.edu	37	chr12	57396829	57396829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcccccgtgtggatccGccggtggtagttgaattcgc	4	12	12	13	4	1	1	0	1	1	0	4	2	2	2	4	3	0	2	4	3	2	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:57396829G>A	ENST00000300101.2	-	2	1958	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GTGTGGATCCGCCGGTGGTAG	0.557													9	70					0	0	0	0	A	57396829	G	A	57396829	3	1	303	1	0	0	0	0	1	0	0	0	17635	1086	38	1	269	1	ZBTB39	12	57396829	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	56743304	57396829	76455066	101	54320											
TMEM132D	121256	broad.mit.edu	37	chr12	129569218	129569218	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcatttctttcccattGacaaagacgtagtcacatct	10	15	4	12	1	4	2	2	1	2	1	5	2	5	2	2	0	0	1	2	0	2	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:129569218G>T	ENST00000422113.2	-	6	1799	c.1473C>A	c.(1471-1473)gtC>gtA	p.V491V	TMEM132D_ENST00000389441.4_Silent_p.V29V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	491						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTTCCCATTGACAAAGACGT	0.542													7	28					2.0095e-06	2.18209e-06	1	0	T	129569218	G	T	129569218	2	4	303	1	0	0	0	0	0	0	0	1	16141	1277	45	2		2	TMEM132D	12	129569218	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	72172389	129569218	4282677	102	54321											
POLE	5426	broad.mit.edu	37	chr12	133225538	133225538	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgatacgaagcaccctcctCcgctttagcgactcgctggt	7	9	10	15	5	0	0	0	0	0	0	3	3	2	0	3	1	3	3	3	1	3	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:133225538C>A	ENST00000320574.5	-	32	4169	c.4126G>T	c.(4126-4128)Gag>Tag	p.E1376*	POLE_ENST00000535270.1_Nonsense_Mutation_p.E1349*	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1376					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCACCCTCCTCCGCTTTAGCG	0.612								DNA polymerases (catalytic subunits)					9	49					0.0477658	0.0485893	1	0	A	133225538	C	A	133225538	4	1	303	1	0	0	0	0	0	1	0	0	12268	864	30	2	2806	2	POLE	12	133225538	Nonsense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	3656320	133225538	626357	103	54322											
ANKLE2	23141	broad.mit.edu	37	chr12	133319798	133319798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacaatcaaatggtgtgacGaaagcacgttgactacatct	14	11	8	8	2	2	2	1	2	1	0	2	3	2	2	0	1	3	2	0	1	5	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:133319798G>A	ENST00000539605.1	-	5	7793	c.1109C>T	c.(1108-1110)tCg>tTg	p.S370L	ANKLE2_ENST00000357997.5_Missense_Mutation_p.S432L|ANKLE2_ENST00000337516.5_Missense_Mutation_p.S432L			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	432						cytoplasm|integral to membrane|nuclear envelope		p.S432L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ATGGTGTGACGAAAGCACGTT	0.353													6	25					0	0	0	0	A	133319798	G	A	133319798	3	1	303	1	0	0	0	0	1	0	0	0	633	1059	37	1	1553	1	ANKLE2	12	133319798	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	94260	133319798	532097	104	54323											
OR4N2	390429	broad.mit.edu	37	chr14	20295720	20295720	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatattctacttcatcaTcctccctggaaattttctca	10	18	2	11	0	4	0	3	0	2	0	7	1	6	1	2	1	1	0	2	1	4	8			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:20295720T>C	ENST00000568211.1	+	1	113	c.113T>C	c.(112-114)aTc>aCc	p.I38T	OR4N2_ENST00000315947.1_Missense_Mutation_p.I38T			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	38					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)		TACTTCATCATCCTCCCTGGA	0.438													20	277					0	0	0	0	C	20295720	T	C	20295720	3	2	303	1	0	0	0	0	1	0	0	0	11148	1435	50	5	115	5	OR4N2	14	20295720	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08		20295720	87053820	105	54324											
OR4K17	390436	broad.mit.edu	37	chr14	20586188	20586188	+	Frame_Shift_Del	DEL	T	T	-																															tcccaatgtggtagacagcaTtttttgtgacctccctttgg																										TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:20586188delT	ENST00000315543.4	+	1	623	c.623delT	c.(622-624)atfs	p.I208fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTAGACAGCATTTTTTGTGAC	0.448													17	150	---	---	---	---					-	20586188	T	-	20586188	7	5	303	1	0	1	0	1	0	0	0	0	11142	1493	52	0	625	0	OR4K17	14	20586188	Frame_Shift_Del	DEL	T	TCGA-CV-7407-01A-11D-2078-08	290468	20586188	86763352	106	54325											
METTL3	56339	broad.mit.edu	37	chr14	21971333	21971333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taccttcttgctctgttgttCcttagtggactgttggttca	4	19	9	9	0	3	0	1	0	2	0	4	1	4	1	2	2	2	5	2	2	2	8			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:21971333C>T	ENST00000298717.4	-	3	857	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	236					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CTCTGTTGTTCCTTAGTGGAC	0.448													38	114					0	0	0	0	T	21971333	C	T	21971333	3	4	303	1	0	0	0	0	1	0	0	0	9570	864	30	2	1072	2	METTL3	14	21971333	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	1385145	21971333	85378207	107	54326											
RTN1	6252	broad.mit.edu	37	chr14	60212930	60212930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtggactctgcaggagTcatctctattccagaatcag	9	12	9	11	1	4	1	2	0	2	1	7	3	6	3	2	2	1	1	2	2	2	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:60212930T>C	ENST00000267484.5	-	2	846	c.511A>G	c.(511-513)Act>Gct	p.T171A		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	171					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTGCAGGAGTCATCTCTATT	0.507													32	36					0	0	0	0	C	60212930	T	C	60212930	3	2	303	1	0	0	0	0	1	0	0	0	13810	1667	58	5	1916	5	RTN1	14	60212930	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08	38241597	60212930	47136610	108	54327											
SYNE2	23224	broad.mit.edu	37	chr14	64486767	64486767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctagaagagtggctgaaAtacagtttttgctccaaagc	12	13	9	7	0	1	3	0	1	1	2	2	3	2	3	1	1	3	3	1	1	5	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:64486767A>G	ENST00000358025.3	+	35	5337	c.5107A>G	c.(5107-5109)Ata>Gta	p.I1703V	SYNE2_ENST00000344113.4_Missense_Mutation_p.I1703V|SYNE2_ENST00000554584.1_Missense_Mutation_p.I1703V|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1703					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTGGCTGAAATACAGTTTTT	0.299													14	72					0	0	0	0	G	64486767	A	G	64486767	3	3	303	1	0	0	0	0	1	0	0	0	15537	101	4	5	5241	5	SYNE2	14	64486767	Missense_Mutation	SNP	A	TCGA-CV-7407-01A-11D-2078-08	4273837	64486767	42862773	109	54328											
ZC3H14	79882	broad.mit.edu	37	chr14	89060979	89060979	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatcactgcttttactttcGatgaaataacttaatgagct	12	16	6	7	1	1	3	1	3	0	0	2	4	1	3	0	0	4	2	0	0	4	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:89060979G>A	ENST00000555900.1	+	0	221				ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000406216.3_De_novo_Start_OutOfFrame|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000318308.6_De_novo_Start_OutOfFrame|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000251038.5_Intron			Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14							cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TTTTACTTTCGATGAAATAAC	0.323													4	22					0	0	0	0	A	89060979	G	A	89060979	1	1	303	1	0	0	0	0	0	0	0	0	17661	1073	37	1		1	ZC3H14	14	89060979	Translation_Start_Site	SNP	G	TCGA-CV-7407-01A-11D-2078-08	24574212	89060979	18288561	110	54329											
ITPK1	3705	broad.mit.edu	37	chr14	93412779	93412779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgcctgccgcagggcccgGgagagctcccggatgacctc	6	5	15	15	3	0	2	0	1	0	1	2	4	1	3	5	3	3	2	5	3	0	0			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:93412779G>A	ENST00000267615.6	-	10	971	c.798C>T	c.(796-798)tcC>tcT	p.S266S	ITPK1_ENST00000354313.3_Silent_p.S266S|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000556603.2_Silent_p.S266S|ITPK1_ENST00000555495.1_Silent_p.S147S			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	266	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GCAGGGCCCGGGAGAGCTCCC	0.617													12	43					0	0	0	0	A	93412779	G	A	93412779	2	1	303	1	0	0	0	0	0	0	0	1	7969	1219	43	4		4	ITPK1	14	93412779	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	4351800	93412779	13936761	111	54330											
CASC5	57082	broad.mit.edu	37	chr15	40915007	40915010	+	Frame_Shift_Del	DEL	GGAA	GGAA	-																															agcaaaatgtcaaaatttggGgaaggaaaagtgttggtgga																										TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr15:40915007_40915010delGGAA	ENST00000346991.5	+	11	3013_3016	c.2623_2626delGGAA	c.(2623-2628)ggfs	p.GR875fs	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Frame_Shift_Del_p.GR849fs			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	875	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CAAAATTTGGGGAAGGAAAAGTGT	0.319													7	39	---	---	---	---					-	40915010	GGAA	-	40915007	7	5	303	1	0	1	0	1	0	0	0	0	2688	1233	43	0	2661	0	CASC5	15	40915007	Frame_Shift_Del	DEL	GGAA	TCGA-CV-7407-01A-11D-2078-08		40915007	61616385	112	54331											
VPS33B	26276	broad.mit.edu	37	chr15	91557634	91557634	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcaatgtatcgcatattcTtgatgcggggtctgaccaag	9	12	12	8	2	2	2	0	2	2	0	3	2	2	2	1	3	1	3	1	3	4	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr15:91557634T>C	ENST00000333371.3	-	4	622	c.269A>G	c.(268-270)aAg>aGg	p.K90R	VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000535906.1_Missense_Mutation_p.K63R|VPS33B_ENST00000557358.1_5'UTR	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	90					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCGCATATTCTTGATGCGGGG	0.428													33	144					0	0	0	0	C	91557634	T	C	91557634	3	2	303	1	0	0	0	0	1	0	0	0	17298	1609	56	5	1664	5	VPS33B	15	91557634	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08	50642627	91557634	10973758	113	54332											
MSLNL	401827	broad.mit.edu	37	chr16	830539	830539	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtaggtgacagtgtgcaCgggtaggtgacagtgtgcac	9	9	16	7	1	0	2	0	2	0	0	0	2	0	2	0	3	2	4	0	3	2	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:830539C>T	ENST00000293892.3	-	3	461	c.462G>A	c.(460-462)ccG>ccA	p.P154P	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ACAGTGTGCACGGGTAGGTGA	0.562													12	93					0	0	0	0	T	830539	C	T	830539	2	4	303	1	0	0	0	0	0	0	0	1	9952	523	19	1		1	MSLNL	16	830539	Silent	SNP	C	TCGA-CV-7407-01A-11D-2078-08		830539	89524214	114	54333											
TNRC6A	27327	broad.mit.edu	37	chr16	24826581	24826581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataggagatggctggccaCgtgccaaatcgcctaacggc	11	6	12	12	3	0	1	0	0	0	1	1	2	0	1	3	4	2	1	3	4	4	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:24826581C>T	ENST00000395799.3	+	19	4915	c.4786C>T	c.(4786-4788)Cgt>Tgt	p.R1596C	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1547C|TNRC6A_ENST00000432286.2_Missense_Mutation_p.R74C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1596					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGCTGGCCACGTGCCAAATC	0.448													7	31					0	0	0	0	T	24826581	C	T	24826581	3	4	303	1	0	0	0	0	1	0	0	0	16434	536	19	1	4860	1	TNRC6A	16	24826581	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	23996042	24826581	65528172	115	54334											
CDH16	1014	broad.mit.edu	37	chr16	66945163	66945163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggactgggcggtgtgcacctCcccggagaatttctcaatgc	7	9	13	12	2	1	1	1	0	1	1	3	3	2	2	3	4	2	1	3	4	2	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:66945163C>T	ENST00000299752.4	-	14	2039	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	CDH16_ENST00000394055.3_Missense_Mutation_p.E616K|CDH16_ENST00000565796.1_Missense_Mutation_p.E616K|CDH16_ENST00000568632.1_Missense_Mutation_p.E519K|CDH16_ENST00000570262.1_Missense_Mutation_p.E536K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	616	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTGTGCACCTCCCCGGAGAAT	0.597													3	18					0	0	0	0	T	66945163	C	T	66945163	3	4	303	1	0	0	0	0	1	0	0	0	3130	864	30	2	663	2	CDH16	16	66945163	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	42118582	66945163	23409590	116	54335											
PMFBP1	83449	broad.mit.edu	37	chr16	72173223	72173223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acactcttctgaggagctagGagggtatctgtgggtggctg	7	11	16	7	0	3	1	0	1	3	0	3	3	3	3	0	5	1	3	0	5	2	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:72173223G>A	ENST00000537465.1	-	7	1041	c.883C>T	c.(883-885)Cct>Tct	p.P295S	PMFBP1_ENST00000355636.6_Missense_Mutation_p.P150S|PMFBP1_ENST00000237353.10_Missense_Mutation_p.P295S			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	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)				GAGGAGCTAGGAGGGTATCTG	0.463													4	15					0	0	0	0	A	72173223	G	A	72173223	3	1	303	1	0	0	0	0	1	0	0	0	12206	1174	41	2	2260	2	PMFBP1	16	72173223	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	5228060	72173223	18181530	117	54336											
PKD1L2	114780	broad.mit.edu	37	chr16	81142842	81142842	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaggctgaccatcgtcTccgccgcatcaaagagggtt	9	8	12	12	3	2	3	1	2	1	1	4	3	2	3	3	2	0	4	3	2	2	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:81142842T>C	ENST00000534142.1	-	0	1430				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACCATCGTCTCCGCCGCATC	0.502													4	9					0	0	0	0	C	81142842	T	C	81142842	1	2	303	0	1	0	0	0	0	0	0	0	12037	1551	54	5		5	PKD1L2	16	81142842	RNA	SNP	T	TCGA-CV-7407-01A-11D-2078-08	8969619	81142842	9211911	118	54337											
TP53	7157	broad.mit.edu	37	chr17	7577543	7577543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaggatgggcctccggttCatgccgcccatgcaggaact	7	8	14	12	2	1	1	1	1	0	0	2	3	2	3	4	4	3	2	4	4	1	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:7577543C>T	ENST00000420246.2	-	7	870	c.738G>A	c.(736-738)atG>atA	p.M246I	TP53_ENST00000269305.4_Missense_Mutation_p.M246I|TP53_ENST00000413465.2_Missense_Mutation_p.M246I|TP53_ENST00000445888.2_Missense_Mutation_p.M246I|TP53_ENST00000359597.4_Missense_Mutation_p.M246I|TP53_ENST00000455263.2_Missense_Mutation_p.M246I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M246I(24)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCTCCGGTTCATGCCGCCCA	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	52					0	0	0	0	T	7577543	C	T	7577543	3	4	303	1	0	0	0	0	1	0	0	0	16476	826	29	2	552	2	TP53	17	7577543	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08		7577543	73617667	119	54338											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	33					0	0	0	0	T	7578406	C	T	7578406	3	4	303	1	0	0	0	0	1	0	0	0	16476	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	863	7578406	73616804	120	54339											
SLC25A35	399512	broad.mit.edu	37	chr17	8197904	8197904	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtcggatgccattcatcagGaactggtacaagagggcggg	11	7	15	8	2	2	1	2	0	0	1	3	3	2	3	1	5	3	1	1	5	3	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:8197904G>A	ENST00000380067.2	-	1	266	c.222C>T	c.(220-222)ttC>ttT	p.F74F	SLC25A35_ENST00000579192.1_Silent_p.F74F|SLC25A35_ENST00000580340.1_Silent_p.F74F|SLC25A35_ENST00000577745.1_Silent_p.F74F|SLC25A35_ENST00000396278.1_Silent_p.F74F	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	74					transport	integral to membrane|mitochondrial inner membrane				breast(2)|large_intestine(2)|lung(2)	6						CATTCATCAGGAACTGGTACA	0.627													9	37					0	0	0	0	A	8197904	G	A	8197904	2	1	303	1	0	0	0	0	0	0	0	1	14587	1165	41	2		2	SLC25A35	17	8197904	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	619498	8197904	72997306	121	54340											
MYH8	4626	broad.mit.edu	37	chr17	10296168	10296168	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcctccagtttctggaTctgcttcttcccacccttca	4	14	6	17	0	4	0	1	0	3	0	6	1	6	1	5	2	1	2	5	2	0	4			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:10296168T>C	ENST00000403437.2	-	37	5537	c.5443A>G	c.(5443-5445)Atc>Gtc	p.I1815V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1815					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGTTTCTGGATCTGCTTCTTC	0.552									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				18	121					0	0	0	0	C	10296168	T	C	10296168	3	2	303	1	0	0	0	0	1	0	0	0	10111	1435	50	5	386	5	MYH8	17	10296168	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08	2098264	10296168	70899042	122	54341											
NCOR1	9611	broad.mit.edu	37	chr17	15971267	15971267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcgtgggcaggtggctcCgataaacctcgcctgcagtg	7	8	15	11	3	0	0	0	0	0	0	2	1	1	0	3	3	3	3	3	3	2	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:15971267C>T	ENST00000268712.3	-	32	4939	c.4682G>A	c.(4681-4683)cGg>cAg	p.R1561Q	NCOR1_ENST00000395857.3_Missense_Mutation_p.R145Q|NCOR1_ENST00000395851.1_Missense_Mutation_p.R1577Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1561	Interaction with C1D (By similarity).|Interaction with ETO.			R -> W (in Ref. 1; AAC33550).	cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGTGGCTCCGATAAACCTC	0.512													9	40					0	0	0	0	T	15971267	C	T	15971267	3	4	303	1	0	0	0	0	1	0	0	0	10305	652	23	1	2700	1	NCOR1	17	15971267	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	5675099	15971267	65223943	123	54342											
MYO15A	51168	broad.mit.edu	37	chr17	18052259	18052259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcagccagcaggggaggcCccaaagtgtaggtagctatg	10	6	15	10	0	0	0	0	0	0	0	0	1	0	1	3	4	4	5	3	4	4	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:18052259C>T	ENST00000205890.5	+	33	7287	c.6949C>T	c.(6949-6951)Ccc>Tcc	p.P2317S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2317	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGGGGAGGCCCCAAAGTGTA	0.642													2	4					0	0	0	0	T	18052259	C	T	18052259	3	4	303	1	0	0	0	0	1	0	0	0	10133	623	22	4	7071	4	MYO15A	17	18052259	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	2080992	18052259	63142951	124	54343											
C17orf66	256957	broad.mit.edu	37	chr17	34185484	34185484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctaggatggccttgatgaCtggggctgagtgcacgtgca	7	10	16	8	1	1	3	0	3	1	0	1	4	1	4	1	4	2	3	1	4	1	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:34185484C>T	ENST00000311880.2	-	10	1133	c.985G>A	c.(985-987)Gtc>Atc	p.V329I	C17orf66_ENST00000592980.1_Missense_Mutation_p.V289I	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	329							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GCCTTGATGACTGGGGCTGAG	0.572													3	24					0	0	0	0	T	34185484	C	T	34185484	3	4	303	1	0	0	0	0	1	0	0	0	1889	565	20	4	751	4	C17orf66	17	34185484	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	16133225	34185484	47009726	125	54344											
ACACA	31	broad.mit.edu	37	chr17	35600372	35600372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatagacttctccacattgGggggaatgcggccagacaca	11	8	12	10	1	1	3	0	1	1	2	2	4	1	4	2	4	1	0	2	4	2	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:35600372G>T	ENST00000353139.5	-	22	3327	c.2846C>A	c.(2845-2847)cCc>cAc	p.P949H	ACACA_ENST00000394406.2_Missense_Mutation_p.P912H|ACACA_ENST00000335166.5_Missense_Mutation_p.P834H|ACACA_ENST00000360679.3_Missense_Mutation_p.P854H	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	912					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCCACATTGGGGGGAATGCG	0.468													20	128					1.33834e-09	1.50883e-09	1	0	T	35600372	G	T	35600372	3	4	303	1	0	0	0	0	1	0	0	0	106	1232	43	4	4445	4	ACACA	17	35600372	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	1414888	35600372	45594838	126	54345											
CACNG5	27091	broad.mit.edu	37	chr17	64876725	64876725	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagcctcttcttcatgtTcattgggtttatcctgaaca	7	16	8	10	0	5	1	3	1	2	0	6	1	6	1	2	2	2	2	2	2	2	6			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:64876725T>G	ENST00000533854.1	+	4	572	c.335T>G	c.(334-336)tTc>tGc	p.F112C	CACNG5_ENST00000307139.3_Missense_Mutation_p.F112C|CACNG5_ENST00000169565.3_Missense_Mutation_p.F112C			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	112					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TTCTTCATGTTCATTGGGTTT	0.512													21	78					0	0	0	0	G	64876725	T	G	64876725	3	3	303	1	0	0	0	0	1	0	0	0	2585	1783	62	5	345	5	CACNG5	17	64876725	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08	29276353	64876725	16318485	127	54346											
POTEC	388468	broad.mit.edu	37	chr18	14542833	14542833	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgcagcaggggaagcAgtgacagcaccacttgccca	10	4	11	16	0	0	1	0	1	0	0	0	2	0	2	4	2	5	4	4	2	1	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr18:14542833A>C	ENST00000358970.5	-	1	312	c.313T>G	c.(313-315)Tgc>Ggc	p.C105G	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	105										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CAGGGGAAGCAGTGACAGCAC	0.617													11	147					0	0	0	0	C	14542833	A	C	14542833	3	2	303	1	0	0	0	0	1	0	0	0	12334	188	7	5	1359	5	POTEC	18	14542833	Missense_Mutation	SNP	A	TCGA-CV-7407-01A-11D-2078-08		14542833	63534415	128	54347											
ONECUT2	9480	broad.mit.edu	37	chr18	55143819	55143819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagatgcagatcaccatttCccagcagctgggcctggagc	9	7	13	12	0	1	2	1	0	0	2	2	4	2	3	3	3	4	3	3	3	0	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr18:55143819C>T	ENST00000491143.2	+	2	1411	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	460					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ATCACCATTTCCCAGCAGCTG	0.582													15	39					0	0	0	0	T	55143819	C	T	55143819	3	4	303	1	0	0	0	0	1	0	0	0	10940	855	30	2	1385	2	ONECUT2	18	55143819	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	40600986	55143819	22933429	129	54348											
MYO1F	4542	broad.mit.edu	37	chr19	8618065	8618065	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcacagtcttggcgttgccGaaggcctcgagcagcgggtt	6	8	15	12	5	1	0	0	0	1	0	2	2	1	0	2	3	3	4	2	3	1	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:8618065G>A	ENST00000338257.8	-	6	729	c.462C>T	c.(460-462)ttC>ttT	p.F154F		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	154	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGGCGTTGCCGAAGGCCTCGA	0.577													8	67					0	0	0	0	A	8618065	G	A	8618065	2	1	303	1	0	0	0	0	0	0	0	1	10143	1049	37	1		1	MYO1F	19	8618065	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08		8618065	50510918	130	54349											
PBX4	80714	broad.mit.edu	37	chr19	19681616	19681616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggcgtcagggggatcttCgtcttgaatgccacggatgc	6	10	15	10	3	3	1	1	1	2	0	4	3	3	3	1	4	2	0	1	4	1	2	rs147300531		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:19681616C>T	ENST00000251203.8	-	3	506	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	74							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GGGGGATCTTCGTCTTGAATG	0.537													7	65					0	0	0	0	T	19681616	C	T	19681616	3	4	303	1	0	0	0	0	1	0	0	0	11566	893	31	1	928	1	PBX4	19	19681616	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	11063551	19681616	39447367	131	54350											
ZNF585B	92285	broad.mit.edu	37	chr19	37677052	37677052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgcatacatagggcttttCtcctgtgtgaattcgtttat	8	18	8	7	1	1	1	0	1	1	0	3	1	1	1	1	1	2	3	1	1	4	8			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:37677052C>T	ENST00000532828.2	-	5	1638	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E408K|ZNF585B_ENST00000312908.5_Missense_Mutation_p.E51K|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGGGCTTTTCTCCTGTGTGA	0.368													17	296					0	0	0	0	T	37677052	C	T	37677052	3	4	303	1	0	0	0	0	1	0	0	0	18113	922	32	2	926	2	ZNF585B	19	37677052	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	17995436	37677052	21451931	132	54351											
ZNF383	163087	broad.mit.edu	37	chr19	37726884	37726884	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttttctcgtgagcaggacTttacactcctaagcctcaag	9	13	7	12	1	3	1	1	1	2	0	5	2	4	2	2	1	3	1	2	1	3	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:37726884T>G	ENST00000589413.1	+	7	723	c.140T>G	c.(139-141)cTt>cGt	p.L47R	ZNF383_ENST00000590503.1_Missense_Mutation_p.L47R|ZNF383_ENST00000352998.3_Missense_Mutation_p.L47R			Q8NA42	ZN383_HUMAN	zinc finger protein 383	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGCAGGACTTTACACTCCT	0.483													9	153					0	0	0	0	G	37726884	T	G	37726884	3	3	303	1	0	0	0	0	1	0	0	0	17969	1609	56	5	150	5	ZNF383	19	37726884	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08	49832	37726884	21402099	133	54352											
SLC17A7	57030	broad.mit.edu	37	chr19	49933917	49933917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgtcactgccagccagctgGtcatggccaacgaagccaca	10	6	10	15	2	2	0	2	0	0	0	3	1	2	0	4	2	5	1	4	2	2	0			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:49933917G>A	ENST00000221485.3	-	12	1713	c.1542C>T	c.(1540-1542)gaC>gaT	p.D514D	SLC17A7_ENST00000543531.1_Silent_p.D502D|SLC17A7_ENST00000600601.1_Silent_p.D447D	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	514					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CAGCCAGCTGGTCATGGCCAA	0.627													11	47					0	0	0	0	A	49933917	G	A	49933917	2	1	303	1	0	0	0	0	0	0	0	1	14510	1252	44	4		4	SLC17A7	19	49933917	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	12207033	49933917	9195066	134	54353											
NINL	22981	broad.mit.edu	37	chr20	25477346	25477346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggagtggcagtcgtcCatctctttcacaaactccag	9	10	11	11	1	2	0	1	0	1	0	6	1	4	1	2	3	1	1	2	3	1	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr20:25477346C>T	ENST00000278886.6	-	10	1336	c.1263G>A	c.(1261-1263)atG>atA	p.M421I	NINL_ENST00000422516.1_Missense_Mutation_p.M421I	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	421					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGCAGTCGTCCATCTCTTTCA	0.602													6	37					0	0	0	0	T	25477346	C	T	25477346	3	4	303	1	0	0	0	0	1	0	0	0	10490	594	21	4	2945	4	NINL	20	25477346	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08		25477346	37548174	135	54354											
ERG	2078	broad.mit.edu	37	chr21	39947591	39947591	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagacgggacttaccttgaTatgagctgctgggtccggga	9	9	14	9	2	0	3	0	2	0	1	1	5	1	5	2	3	3	2	2	3	3	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:39947591T>C	ENST00000442448.1	-	3	305	c.34A>G	c.(34-36)Atc>Gtc	p.I12V	ERG_ENST00000417133.2_Missense_Mutation_p.I12V|ERG_ENST00000398897.1_De_novo_Start_InFrame|ERG_ENST00000485493.1_5'UTR|ERG_ENST00000398910.1_Missense_Mutation_p.I12V|ERG_ENST00000398919.2_Missense_Mutation_p.I12V|ERG_ENST00000398911.1_Missense_Mutation_p.I12V	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	12					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CTTACCTTGATATGAGCTGCT	0.507			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								3	29					0	0	0	0	C	39947591	T	C	39947591	3	2	303	1	0	0	0	0	1	0	0	0	5260	1406	49	5	1488	5	ERG	21	39947591	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08		39947591	8182304	136	54355											
DSCAM	1826	broad.mit.edu	37	chr21	41496129	41496129	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaccaacttactgtgggaTaggggtgggagcagaataca	12	10	13	6	0	0	1	0	0	0	1	0	3	0	3	1	4	5	1	1	4	6	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:41496129T>C	ENST00000400454.1	-	20	4166	c.3689A>G	c.(3688-3690)tAt>tGt	p.Y1230C		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1230	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TACTGTGGGATAGGGGTGGGA	0.552													15	133					0	0	0	0	C	41496129	T	C	41496129	3	2	303	1	0	0	0	0	1	0	0	0	4804	1406	49	5	2405	5	DSCAM	21	41496129	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08	1548538	41496129	6633766	137	54356											
DSCAM	1826	broad.mit.edu	37	chr21	41711195	41711195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcatctggctgatgcggTgactgccacccttgagaatc	8	11	11	11	1	2	4	1	4	1	1	3	5	2	4	2	2	2	1	2	2	1	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:41711195T>C	ENST00000400454.1	-	7	1835	c.1358A>G	c.(1357-1359)cAc>cGc	p.H453R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	453	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTGATGCGGTGACTGCCACC	0.607													3	36					0	0	0	0	C	41711195	T	C	41711195	3	2	303	1	0	0	0	0	1	0	0	0	4804	1696	59	5	4788	5	DSCAM	21	41711195	Missense_Mutation	SNP	T	TCGA-CV-7407-01A-11D-2078-08	215066	41711195	6418700	138	54357											
PFKL	5211	broad.mit.edu	37	chr21	45730967	45730967	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctccaacatcatccagctgGtgaggcctgggaacgcggat	9	8	12	12	2	2	1	1	1	1	0	4	3	3	3	3	4	3	1	3	4	2	0			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:45730967G>T	ENST00000403390.1	+	4	378		c.e4+1		PFKL_ENST00000349048.4_Splice_Site|PFKL_ENST00000496824.1_Splice_Site			P17858	K6PL_HUMAN	phosphofructokinase, liver						fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CATCCAGCTGGTGAGGCCTGG	0.572													6	20					3.59834e-05	3.88357e-05	1	0	T	45730967	G	T	45730967	5	4	303	1	0	0	0	0	0	0	1	0	11836	1275	44	4	248	4	PFKL	21	45730967	Splice_Site	SNP	G	TCGA-CV-7407-01A-11D-2078-08	4019772	45730967	2398928	139	54358											
SFI1	9814	broad.mit.edu	37	chr22	32011159	32011159	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccctgcctggggccctgtCaagcgcccctggcccgaagc	4	5	12	20	2	1	0	1	0	0	0	1	1	1	0	7	3	3	0	7	3	2	0			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr22:32011159C>G	ENST00000432498.1	+	28	3494	c.3101C>G	c.(3100-3102)tCa>tGa	p.S1034*	SFI1_ENST00000400288.2_Nonsense_Mutation_p.S1065*|SFI1_ENST00000400289.1_Nonsense_Mutation_p.S983*|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000443326.1_Nonsense_Mutation_p.S983*|SFI1_ENST00000443011.1_Nonsense_Mutation_p.S912*|SFI1_ENST00000540643.1_Nonsense_Mutation_p.S1010*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.S912*	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1065					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						GGGGCCCTGTCAAGCGCCCCT	0.716													6	29					0	0	0	0	G	32011159	C	G	32011159	4	3	303	1	0	0	0	0	0	1	0	0	14243	838	29	2	3304	2	SFI1	22	32011159	Nonsense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08		32011159	19293407	140	54359											
SLC5A4	6527	broad.mit.edu	37	chr22	32650129	32650129	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacttcgatccacttacCggccaccaggccatatcacg	12	7	7	15	3	1	0	1	0	0	0	3	2	2	0	5	2	2	0	5	2	4	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr22:32650129C>T	ENST00000266086.4	-	2	218	c.207_splice	c.e2+1	p.P69_splice	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	69					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCCACTTACCGGCCACCAGG	0.522													29	35					0	0	0	0	T	32650129	C	T	32650129	5	4	303	1	0	0	0	0	0	0	1	0	14755	666	23	1	1828	1	SLC5A4	22	32650129	Splice_Site	SNP	C	TCGA-CV-7407-01A-11D-2078-08	638970	32650129	18654437	141	54360											
RS1	6247	broad.mit.edu	37	chrX	18660205	18660205	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagcgggatgaggcggatGaagcgggagatgatgggggg	9	4	22	6	3	0	4	0	3	0	1	0	7	0	6	1	7	2	0	1	7	1	0			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:18660205G>A	ENST00000379984.3	-	6	634	c.594C>T	c.(592-594)ttC>ttT	p.F198F	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	198	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TGAGGCGGATGAAGCGGGAGA	0.617													11	48					0	0	0	0	A	18660205	G	A	18660205	2	1	303	1	0	0	0	0	0	0	0	1	13778	1281	45	2		2	RS1	23	18660205	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08		18660205	136610355	142	54361											
MBTPS2	51360	broad.mit.edu	37	chrX	21896226	21896226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcacagatgtgtgcttttCctacagaaataattttaata	13	15	5	8	0	1	2	1	0	0	2	2	2	2	2	2	0	2	1	2	0	5	7			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:21896226C>A	ENST00000379484.5	+	8	1136	c.1037C>A	c.(1036-1038)tCc>tAc	p.S346Y		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	346	Cys-rich.				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GTGTGCTTTTCCTACAGAAAT	0.343													8	44					0.000157383	0.000168829	1	0	A	21896226	C	A	21896226	3	1	303	1	0	0	0	0	1	0	0	0	9431	855	30	2	1067	2	MBTPS2	23	21896226	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	3236021	21896226	133374334	143	54362											
SUV39H1	6839	broad.mit.edu	37	chrX	48564702	48564702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggggccagatctacgaccGtcagggcgccacctacctct	7	6	12	16	4	3	1	1	0	2	1	3	2	3	1	5	3	2	0	5	3	2	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:48564702G>A	ENST00000376687.3	+	4	1065	c.875G>A	c.(874-876)cGt>cAt	p.R292H	SUV39H1_ENST00000337852.6_Missense_Mutation_p.R303H|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Missense_Mutation_p.V140I|SUV39H1_ENST00000482260.1_3'UTR	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	292	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	p.R292H(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ATCTACGACCGTCAGGGCGCC	0.582													4	45					0	0	0	0	A	48564702	G	A	48564702	3	1	303	1	0	0	0	0	1	0	0	0	15502	1145	40	1	889	1	SUV39H1	23	48564702	Missense_Mutation	SNP	G	TCGA-CV-7407-01A-11D-2078-08	26668476	48564702	106705858	144	54363											
DGKK	139189	broad.mit.edu	37	chrX	50134545	50134545	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacgagccagatcattgccGgttccaagtgggatgactgc	10	8	12	11	2	1	2	1	1	0	1	2	4	2	3	3	2	3	1	3	2	1	2			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:50134545G>A	ENST00000376025.2	-	0	1793							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GATCATTGCCGGTTCCAAGTG	0.512													7	45					0	0	0	0	A	50134545	G	A	50134545	1	1	303	0	1	0	0	0	0	0	0	0	4509	1103	39	1		1	DGKK	23	50134545	RNA	SNP	G	TCGA-CV-7407-01A-11D-2078-08	1569843	50134545	105136015	145	54364											
ARR3	407	broad.mit.edu	37	chrX	69496004	69496004	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattggtctgacgttccgaaAagatctgtatgtgcagaccc	10	11	11	9	2	2	3	0	1	2	2	3	5	3	3	2	1	1	3	2	1	3	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:69496004A>T	ENST00000374495.3	+	6	316	c.218A>T	c.(217-219)aAa>aTa	p.K73I	ARR3_ENST00000307959.8_Missense_Mutation_p.K73I			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	73					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						ACGTTCCGAAAAGATCTGTAT	0.542													6	20					0	0	0	0	T	69496004	A	T	69496004	3	4	303	1	0	0	0	0	1	0	0	0	983	14	1	5	236	5	ARR3	23	69496004	Missense_Mutation	SNP	A	TCGA-CV-7407-01A-11D-2078-08	19361459	69496004	85774556	146	54365											
TCEAL8	90843	broad.mit.edu	37	chrX	102508843	102508843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtacatcctccaaagggCgatcttcctcggcctttggc	6	11	11	13	2	1	0	0	0	1	0	5	1	4	0	4	4	1	1	4	4	2	3			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:102508843C>T	ENST00000372685.3	-	3	301	c.65G>A	c.(64-66)cGc>cAc	p.R22H	TCEAL8_ENST00000360000.4_Missense_Mutation_p.R22H	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|lung(1)|ovary(1)	4						CTCCAAAGGGCGATCTTCCTC	0.443													9	139					0	0	0	0	T	102508843	C	T	102508843	3	4	303	1	0	0	0	0	1	0	0	0	15771	768	27	1	292	1	TCEAL8	23	102508843	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	33012839	102508843	52761717	147	54366											
ATP1B4	23439	broad.mit.edu	37	chrX	119509241	119509241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttaggttataatgacagtCttcaagaggaaatgaatgta	15	13	9	4	0	2	3	1	2	1	1	2	4	2	4	0	2	0	2	0	2	7	6			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:119509241C>G	ENST00000218008.3	+	5	634	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	ATP1B4_ENST00000539306.1_Missense_Mutation_p.L150V|ATP1B4_ENST00000361319.3_Missense_Mutation_p.L189V	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	193					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TAATGACAGTCTTCAAGAGGA	0.488													10	80					0	0	0	0	G	119509241	C	G	119509241	3	3	303	1	0	0	0	0	1	0	0	0	1139	913	32	2	595	2	ATP1B4	23	119509241	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	17000398	119509241	35761319	148	54367											
GPR112	139378	broad.mit.edu	37	chrX	135431431	135431431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccaaagacctctcctcctCccacatcccaaatggttgaa	11	9	4	17	0	1	2	0	1	1	1	6	2	5	2	6	1	0	1	6	1	3	1			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:135431431C>G	ENST00000394143.1	+	6	5857	c.5566C>G	c.(5566-5568)Ccc>Gcc	p.P1856A	GPR112_ENST00000370652.1_Missense_Mutation_p.P1856A|GPR112_ENST00000287534.4_Missense_Mutation_p.P1793A|GPR112_ENST00000412101.1_Missense_Mutation_p.P1651A|GPR112_ENST00000394141.1_Missense_Mutation_p.P1651A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1856					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTCTCCTCCTCCCACATCCCA	0.448													17	85					0	0	0	0	G	135431431	C	G	135431431	3	3	303	1	0	0	0	0	1	0	0	0	6678	855	30	2	5576	2	GPR112	23	135431431	Missense_Mutation	SNP	C	TCGA-CV-7407-01A-11D-2078-08	15922190	135431431	19839129	149	54368											
MCF2	4168	broad.mit.edu	37	chrX	138680607	138680607	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgattcgttgcactggtttGagtaaataggaatccagtct	10	14	11	6	1	1	2	0	2	1	0	3	3	2	3	1	2	1	4	1	2	4	5			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:138680607G>C	ENST00000520602.1	-	20	2352	c.2067C>G	c.(2065-2067)ctC>ctG	p.L689L	MCF2_ENST00000414978.1_Silent_p.L689L|MCF2_ENST00000536274.1_Silent_p.L590L|MCF2_ENST00000338585.6_Silent_p.L645L|MCF2_ENST00000370573.4_Silent_p.L629L|MCF2_ENST00000519895.1_Silent_p.L705L|MCF2_ENST00000370578.4_Silent_p.L774L|MCF2_ENST00000370576.4_Silent_p.L629L			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	629	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCACTGGTTTGAGTAAATAGG	0.299													7	43					0	0	0	0	C	138680607	G	C	138680607	2	2	303	1	0	0	0	0	0	0	0	1	9447	1277	45	2		2	MCF2	23	138680607	Silent	SNP	G	TCGA-CV-7407-01A-11D-2078-08	3249176	138680607	16589953	150	54369											
GABRD	2563	broad.mit.edu	37	chr1	1961583	1961583	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgaagaaggagggggcagcCcgctcaggaggccagggggg	10	1	21	9	2	1	1	1	0	0	1	1	4	1	3	2	8	1	2	2	8	2	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:1961583C>A	ENST00000378585.4	+	9	1304	c.1221C>A	c.(1219-1221)gcC>gcA	p.A407A		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	407						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		AGGGGGCAGCCCGCTCAGGAG	0.697													43	16					1.57945e-13	1.98431e-13	1	0	A	1961583	C	A	1961583	2	1	304	1	0	0	0	0	0	0	0	1	6217	610	22	4		4	GABRD	1	1961583	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08		1961583	247289038	1	54370											
PRDM16	63976	broad.mit.edu	37	chr1	3348575	3348575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttagctttggagccgatGccgacttttgggaaggggct	6	12	15	8	2	0	0	0	0	0	0	0	4	0	2	2	4	3	3	2	4	2	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:3348575G>A	ENST00000378398.3	+	17	3649	c.3567G>A	c.(3565-3567)atG>atA	p.M1189I	PRDM16_ENST00000378391.2_Missense_Mutation_p.M1189I|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.M1188I|PRDM16_ENST00000441472.2_Missense_Mutation_p.M1188I|PRDM16_ENST00000514189.1_Intron|PRDM16_ENST00000270722.5_Missense_Mutation_p.M1189I|PRDM16_ENST00000511072.1_Intron			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1189	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGGAGCCGATGCCGACTTTTG	0.552			T	EVI1	"MDS, AML"								17	54					0	0	0	0	A	3348575	G	A	3348575	3	1	304	1	0	0	0	0	1	0	0	0	12537	1319	46	4	3629	4	PRDM16	1	3348575	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	1386992	3348575	245902046	2	54371											
PER3	8863	broad.mit.edu	37	chr1	7887874	7887874	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgtgcccacaaactgagtAtgtaagtgatgctcattttc	11	12	8	10	1	1	2	1	2	0	0	2	2	1	2	1	0	3	3	1	0	3	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:7887874A>G	ENST00000377532.3	+	17	3109	c.2886_splice	c.e17+1	p.Y962_splice	PER3_ENST00000361923.2_Splice_Site_p.Y954_splice			P56645	PER3_HUMAN	period circadian clock 3	954	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CAAACTGAGTATGTAAGTGAT	0.443													31	26					0	0	0	0	G	7887874	A	G	7887874	5	3	304	1	0	0	0	0	0	0	1	0	11802	463	16	5	2927	5	PER3	1	7887874	Splice_Site	SNP	A	TCGA-CV-7409-01A-31D-2229-08	4539299	7887874	241362747	3	54372											
SRM	6723	broad.mit.edu	37	chr1	11119845	11119845	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggtacctgcggaagacGaggatgtcctggtagcgcga	8	6	17	10	6	0	1	0	0	0	1	1	5	1	3	2	5	3	2	2	5	3	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:11119845G>T	ENST00000376957.2	-	1	236	c.156C>A	c.(154-156)ctC>ctA	p.L52L		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	52					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	TGCGGAAGACGAGGATGTCCT	0.741													4	19					0.00024832	0.000265722	1	0	T	11119845	G	T	11119845	2	4	304	1	0	0	0	0	0	0	0	1	15241	1045	37	3		3	SRM	1	11119845	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	3231971	11119845	238130776	4	54373											
CROCC	9696	broad.mit.edu	37	chr1	17275397	17275397	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagccgaggggcaggccctgCtgctggccaaggagaccctg	8	4	16	13	1	0	1	0	0	0	1	0	3	0	1	4	5	3	3	4	5	2	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:17275397C>T	ENST00000375541.5	+	19	2881	c.2812C>T	c.(2812-2814)Ctg>Ttg	p.L938L	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	938					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGGCCCTGCTGCTGGCCAA	0.677													7	83					0	0	0	0	T	17275397	C	T	17275397	2	4	304	1	0	0	0	0	0	0	0	1	3923	796	28	4		4	CROCC	1	17275397	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	6155552	17275397	231975224	5	54374											
RCC2	55920	broad.mit.edu	37	chr1	17736528	17736528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctgcagtggaagacttgGgcttgtggtccccgtagccc	5	9	16	11	1	0	1	0	0	0	1	1	2	1	2	3	4	2	4	3	4	2	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:17736528G>A	ENST00000375436.4	-	12	1593	c.1406C>T	c.(1405-1407)cCc>cTc	p.P469L	RCC2_ENST00000375433.3_Missense_Mutation_p.P469L	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	469					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GGAAGACTTGGGCTTGTGGTC	0.572													15	36					0	0	0	0	A	17736528	G	A	17736528	3	1	304	1	0	0	0	0	1	0	0	0	13256	1232	43	4	170	4	RCC2	1	17736528	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	461131	17736528	231514093	6	54375											
CSMD2	114784	broad.mit.edu	37	chr1	34006187	34006187	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtgaacaccgcgggcAgggagagctggtacccctcc	9	4	14	14	2	0	2	0	1	0	1	1	3	1	2	4	4	3	3	4	4	2	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:34006187A>T	ENST00000373381.4	-	60	9745	c.9569T>A	c.(9568-9570)cTg>cAg	p.L3190Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3166	Sushi 26.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACCGCGGGCAGGGAGAGCTG	0.582													17	55					0	0	0	0	T	34006187	A	T	34006187	3	4	304	1	0	0	0	0	1	0	0	0	3977	188	7	5	1370	5	CSMD2	1	34006187	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	16269659	34006187	215244434	7	54376											
CYP4A11	1579	broad.mit.edu	37	chr1	47399621	47399621	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggaacttcataccttTgggcaaggagcgcccatcag	9	8	14	10	1	2	0	2	0	0	0	2	2	2	2	2	4	3	1	2	4	3	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:47399621T>G	ENST00000310638.4	-	9	1250	c.1219A>C	c.(1219-1221)Aaa>Caa	p.K407Q	CYP4A11_ENST00000371905.1_Missense_Mutation_p.K407Q|CYP4A11_ENST00000371904.4_Missense_Mutation_p.K408Q|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	407					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TTCATACCTTTGGGCAAGGAG	0.562													6	29					0	0	0	0	G	47399621	T	G	47399621	3	3	304	1	0	0	0	0	1	0	0	0	4215	1821	63	5	356	5	CYP4A11	1	47399621	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	13393434	47399621	201851000	8	54377											
KANK4	163782	broad.mit.edu	37	chr1	62740164	62740164	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatccttctgcaggttcAaaggtgccatcacagacact	11	9	8	13	0	3	1	2	0	1	1	4	1	4	1	3	2	2	2	3	2	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:62740164A>C	ENST00000371153.4	-	3	990	c.612T>G	c.(610-612)ttT>ttG	p.F204L	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	204	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTGCAGGTTCAAAGGTGCCAT	0.632													5	30					0	0	0	0	C	62740164	A	C	62740164	3	2	304	1	0	0	0	0	1	0	0	0	8032	127	5	5	2407	5	KANK4	1	62740164	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	15340543	62740164	186510457	9	54378											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507574	74507574	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgatatcctaaaactGgtatccaatttttcatccac	15	13	3	10	0	1	1	1	1	0	0	4	1	4	1	3	1	2	1	3	1	7	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:74507574G>T	ENST00000354431.4	-	7	1232	c.1041C>A	c.(1039-1041)acC>acA	p.T347T	LRRIQ3_ENST00000395089.1_Silent_p.T347T	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	347										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TCCTAAAACTGGTATCCAATT	0.308													17	21					0.006122	0.00626401	1	0	T	74507574	G	T	74507574	2	4	304	1	0	0	0	0	0	0	0	1	9094	1335	47	4		4	LRRIQ3	1	74507574	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	11767410	74507574	174743047	10	54379											
SLC44A5	204962	broad.mit.edu	37	chr1	75707693	75707693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgccacttacaaggtttGctgggaaaaatcgctgttgg	10	12	12	7	1	0	0	0	0	0	0	1	1	0	1	1	3	3	5	1	3	4	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:75707693G>T	ENST00000370855.5	-	9	638	c.525C>A	c.(523-525)agC>agA	p.S175R	SLC44A5_ENST00000535611.1_Missense_Mutation_p.S45R|SLC44A5_ENST00000370859.3_Missense_Mutation_p.S175R	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	175						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TACAAGGTTTGCTGGGAAAAA	0.378													14	48					4.7546e-09	5.48714e-09	1	0	T	75707693	G	T	75707693	3	4	304	1	0	0	0	0	1	0	0	0	14727	1310	46	4	1809	4	SLC44A5	1	75707693	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	1200119	75707693	173542928	11	54380											
LPHN2	23266	broad.mit.edu	37	chr1	82302736	82302736	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatcagcttcttaccaaatAcagaaggtaagatccagttt	15	12	6	8	0	2	2	1	0	1	2	3	2	3	2	2	1	3	3	2	1	6	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:82302736A>T	ENST00000370728.1	+	5	712	c.67A>T	c.(67-69)Aca>Tca	p.T23S	LPHN2_ENST00000335786.5_Missense_Mutation_p.T23S|LPHN2_ENST00000394879.1_Missense_Mutation_p.T23S|LPHN2_ENST00000370717.2_Missense_Mutation_p.T23S|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370715.1_Missense_Mutation_p.T23S|LPHN2_ENST00000370730.1_Missense_Mutation_p.T23S|LPHN2_ENST00000359929.3_Missense_Mutation_p.T23S|LPHN2_ENST00000370727.1_Missense_Mutation_p.T23S|LPHN2_ENST00000319517.6_Missense_Mutation_p.T23S|LPHN2_ENST00000370713.1_Missense_Mutation_p.T23S|LPHN2_ENST00000271029.4_Missense_Mutation_p.T23S|LPHN2_ENST00000370723.1_Missense_Mutation_p.T23S|LPHN2_ENST00000370721.1_Missense_Mutation_p.T23S|LPHN2_ENST00000370725.1_Missense_Mutation_p.T23S			O95490	LPHN2_HUMAN	latrophilin 2	23					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTTACCAAATACAGAAGGTAA	0.318													12	14					0	0	0	0	T	82302736	A	T	82302736	3	4	304	1	0	0	0	0	1	0	0	0	8980	391	14	5	69	5	LPHN2	1	82302736	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	6595043	82302736	166947885	12	54381											
ODF2L	57489	broad.mit.edu	37	chr1	86820356	86820356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagctctttattttctgCgtccatctgttctaattttc	6	20	4	11	1	5	0	1	0	4	0	7	0	6	0	1	0	2	2	1	0	3	8			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:86820356C>A	ENST00000359242.3	-	16	1905	c.1624G>T	c.(1624-1626)Gca>Tca	p.A542S	ODF2L_ENST00000317336.7_Missense_Mutation_p.A542S|ODF2L_ENST00000370566.3_Missense_Mutation_p.A460S|ODF2L_ENST00000394731.1_Missense_Mutation_p.A382S|ODF2L_ENST00000294678.2_Missense_Mutation_p.A526S|ODF2L_ENST00000370567.1_Missense_Mutation_p.A513S	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	542						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTATTTTCTGCGTCCATCTGT	0.313													18	25					6.94344e-10	8.2285e-10	1	0	A	86820356	C	A	86820356	3	1	304	1	0	0	0	0	1	0	0	0	10899	768	27	3	431	3	ODF2L	1	86820356	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	4517620	86820356	162430265	13	54382											
CCBL2	56267	broad.mit.edu	37	chr1	89418758	89418758	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttacctgtaaaggagtTgcacaagtataaatcgtgtt	14	12	8	7	1	0	0	0	0	0	0	1	1	0	1	1	1	2	5	1	1	7	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:89418758T>A	ENST00000260508.4	-	10	1279	c.942A>T	c.(940-942)gcA>gcT	p.A314A	CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Silent_p.A280A	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	314					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTAAAGGAGTTGCACAAGTAT	0.338													13	16					0	0	0	0	A	89418758	T	A	89418758	2	1	304	1	0	0	0	0	0	0	0	1	2758	1799	63	5		5	CCBL2	1	89418758	Silent	SNP	T	TCGA-CV-7409-01A-31D-2229-08	2598402	89418758	159831863	14	54383											
LPPR4	9890	broad.mit.edu	37	chr1	99771793	99771793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtacctcaaaatccagcctGgcgctgtccccggatgtaac	10	8	9	14	2	1	0	1	0	0	0	3	1	3	1	5	2	3	3	5	2	4	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:99771793G>A	ENST00000370185.3	+	7	2016	c.1519G>A	c.(1519-1521)Ggc>Agc	p.G507S	LPPR4_ENST00000370184.1_Missense_Mutation_p.G349S|LPPR4_ENST00000457765.1_Missense_Mutation_p.G449S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		507							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATCCAGCCTGGCGCTGTCCC	0.562													91	116					0	0	0	0	A	99771793	G	A	99771793	3	1	304	1	0	0	0	0	1	0	0	0	8991	1348	47	4	1545	4	LPPR4	1	99771793	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	10353035	99771793	149478828	15	54384											
AMPD2	271	broad.mit.edu	37	chr1	110172028	110172028	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagccccctgcctgaggCgtgggtggaggaggacaacc	8	4	18	11	1	0	2	0	1	0	1	0	6	0	5	4	6	3	0	4	6	1	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:110172028C>A	ENST00000256578.3	+	14	2300	c.1940C>A	c.(1939-1941)gCg>gAg	p.A647E	AMPD2_ENST00000528454.1_Missense_Mutation_p.A529E|AMPD2_ENST00000342115.4_Missense_Mutation_p.A566E|AMPD2_ENST00000393688.3_Missense_Mutation_p.A528E|AMPD2_ENST00000528667.1_Missense_Mutation_p.A647E|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000358729.4_Missense_Mutation_p.A572E	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	647					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGCCTGAGGCGTGGGTGGAG	0.562													58	231					1.19553e-41	1.82548e-41	1	0	A	110172028	C	A	110172028	3	1	304	1	0	0	0	0	1	0	0	0	586	768	27	3	2035	3	AMPD2	1	110172028	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	10400235	110172028	139078593	16	54385											
PIP5K1A	8394	broad.mit.edu	37	chr1	151210743	151210743	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattctacagtcttacaggTgaggagcatatggatcccaa	13	10	9	9	0	2	1	0	1	2	0	3	3	3	3	1	3	3	1	1	3	4	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:151210743T>C	ENST00000409426.1	+	9	1638		c.e9+2		PIP5K1A_ENST00000441902.2_Intron|PIP5K1A_ENST00000414290.2_Splice_Site|PIP5K1A_ENST00000368888.4_Splice_Site|PIP5K1A_ENST00000368890.4_Splice_Site			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha						phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCTTACAGGTGAGGAGCATA	0.433													17	35					0	0	0	0	C	151210743	T	C	151210743	5	2	304	1	0	0	0	0	0	0	1	0	12011	1710	59	5	1269	5	PIP5K1A	1	151210743	Splice_Site	SNP	T	TCGA-CV-7409-01A-31D-2229-08	41038715	151210743	98039878	17	54386											
GATAD2B	57459	broad.mit.edu	37	chr1	153789912	153789912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacaaggccaggcttaggcGggccccgctgaccctgtagc	7	6	14	14	2	0	1	0	1	0	0	0	1	0	1	4	4	2	4	4	4	4	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:153789912G>A	ENST00000368655.4	-	6	1079	c.836C>T	c.(835-837)cCg>cTg	p.P279L		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	279						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGCTTAGGCGGGCCCCGCTG	0.527													29	66					0	0	0	0	A	153789912	G	A	153789912	3	1	304	1	0	0	0	0	1	0	0	0	6310	1116	39	1	969	1	GATAD2B	1	153789912	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	2579169	153789912	95460709	18	54387											
SHC1	6464	broad.mit.edu	37	chr1	154940985	154940985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaacctgtttgcagtctgCggccatgaggttgaggctgc	7	10	13	11	1	1	2	0	2	1	0	1	2	1	2	3	3	4	4	3	3	1	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:154940985C>T	ENST00000448116.2	-	4	956	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000368445.5_Missense_Mutation_p.A246T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	246	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCAGTCTGCGGCCATGAGG	0.552													5	414					0	0	0	0	T	154940985	C	T	154940985	3	4	304	1	0	0	0	0	1	0	0	0	14358	768	27	1	1054	1	SHC1	1	154940985	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1151073	154940985	94309636	19	54388											
COPA	1314	broad.mit.edu	37	chr1	160283779	160283779	+	Splice_Site	DEL	C	C	-																															caacactgaggactaccttaCcgcttagacatatcccagac																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:160283779delC	ENST00000241704.7	-	9	1072		c.e9+1		COPA_ENST00000368069.3_Splice_Site	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha						COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACTACCTTACCGCTTAGACA	0.408													24	46	---	---	---	---					-	160283779	C	-	160283779	8	5	304	1	0	1	0	1	0	0	1	0	3757	521	18	0	2958	0	COPA	1	160283779	Splice_Site	DEL	C	TCGA-CV-7409-01A-31D-2229-08	5342794	160283779	88966842	20	54389											
NUF2	83540	broad.mit.edu	37	chr1	163306634	163306634	+	Frame_Shift_Del	DEL	A	A	-																															gtatatggaatttctttggcAatatgtaagatttaaatatg																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:163306634delA	ENST00000271452.3	+	6	710	c.431delA	c.(430-432)cafs	p.Q144fs	NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000367900.3_Frame_Shift_Del_p.Q144fs|NUF2_ENST00000524800.1_Frame_Shift_Del_p.Q144fs	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	144	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TTTCTTTGGCAATATGTAAGA	0.318													18	33	---	---	---	---					-	163306634	A	-	163306634	7	5	304	1	0	1	0	1	0	0	0	0	10818	130	5	0	449	0	NUF2	1	163306634	Frame_Shift_Del	DEL	A	TCGA-CV-7409-01A-31D-2229-08	3022855	163306634	85943987	21	54390											
LMX1A	4009	broad.mit.edu	37	chr1	165322430	165322430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaagctgtcgttgagcCgcagcagaaacctgtccaag	11	6	12	12	2	0	3	0	1	0	2	2	3	1	3	4	0	4	4	4	0	3	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:165322430C>A	ENST00000342310.3	-	3	528	c.146G>T	c.(145-147)cGg>cTg	p.R49L	LMX1A_ENST00000367893.4_Missense_Mutation_p.R49L|LMX1A_ENST00000294816.2_Missense_Mutation_p.R49L	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	49	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GTCGTTGAGCCGCAGCAGAAA	0.612													20	38					1.33834e-09	1.56731e-09	1	0	A	165322430	C	A	165322430	3	1	304	1	0	0	0	0	1	0	0	0	8916	652	23	3	1030	3	LMX1A	1	165322430	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	2015796	165322430	83928191	22	54391											
CFH	3075	broad.mit.edu	37	chr1	196648897	196648897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgtatgcactgaatctgGatggcgtccgttgccttcat	6	14	11	10	2	2	1	1	1	1	0	3	2	3	2	2	2	3	4	2	2	2	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:196648897G>T	ENST00000367429.4	+	6	1004	c.764G>T	c.(763-765)gGa>gTa	p.G255V	CFH_ENST00000439155.2_Missense_Mutation_p.G255V|CFH_ENST00000359637.2_Missense_Mutation_p.G191V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	255	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACTGAATCTGGATGGCGTCCG	0.308													10	27					3.07112e-06	3.40568e-06	1	0	T	196648897	G	T	196648897	3	4	304	1	0	0	0	0	1	0	0	0	3312	1174	41	2	786	2	CFH	1	196648897	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	31326467	196648897	52601724	23	54392											
LMOD1	25802	broad.mit.edu	37	chr1	201869086	201869087	+	Frame_Shift_Ins	INS	-	-	A																															gttgaactccagagcctcagINStaaaccggaccaagatctca																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:201869086_201869087insA	ENST00000367288.4	-	2	1300_1301	c.1054_1055insT	c.(1054-1056)tgafs	p.*352fs	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	352					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGAGCCTCAGTAAACCGGACC	0.525													16	29	---	---	---	---					A	201869087	-	A	201869086	7	5	304	1	0	1	1	0	0	0	0	0	8911	1029	36	0	755	0	LMOD1	1	201869086	Frame_Shift_Ins	INS	-	TCGA-CV-7409-01A-31D-2229-08	5220189	201869086	47381535	24	54393											
INTS7	25896	broad.mit.edu	37	chr1	212154469	212154478	+	Frame_Shift_Del	DEL	TGACTACAAA	TGACTACAAA	-																															gagcacctggactatcatctTgactacaaagtaccagtagg																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:212154469_212154478delTGACTACAAA	ENST00000366994.3	-	10	1291_1300	c.1187_1196delTTTGTAGTCA	c.(1186-1197)cafs	p.LCSQ396fs	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Frame_Shift_Del_p.LCSQ396fs|INTS7_ENST00000440600.2_Frame_Shift_Del_p.LCSQ347fs|INTS7_ENST00000366992.3_Frame_Shift_Del_p.LCSQ396fs	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	396					snRNA processing	integrator complex	protein binding	p.S398R(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ACTATCATCTTGACTACAAAGTACCAGTAG	0.367													11	53	---	---	---	---					-	212154478	TGACTACAAA	-	212154469	7	5	304	1	0	1	0	1	0	0	0	0	7836	1812	63	0	1736	0	INTS7	1	212154469	Frame_Shift_Del	DEL	TGACTACAAA	TCGA-CV-7409-01A-31D-2229-08	10285383	212154469	37096152	25	54394											
DISP1	84976	broad.mit.edu	37	chr1	223165426	223165426	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgactggaacttccacaAggacagctttttctgcgacg	10	11	10	10	2	1	1	0	1	1	0	2	4	2	3	1	2	3	2	1	2	2	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:223165426A>G	ENST00000284476.6	+	6	1027	c.863A>G	c.(862-864)aAg>aGg	p.K288R	DISP1_ENST00000495684.1_3'UTR	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	288					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AACTTCCACAAGGACAGCTTT	0.403													20	33					0	0	0	0	G	223165426	A	G	223165426	3	3	304	1	0	0	0	0	1	0	0	0	4576	72	3	5	881	5	DISP1	1	223165426	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	11010957	223165426	26085195	26	54395											
RYR2	6262	broad.mit.edu	37	chr1	237494248	237494248	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtccgggcgctgcaggAgatgctggctaacaccgtgg	6	8	15	12	3	1	1	0	0	1	1	2	2	2	1	2	4	3	4	2	4	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:237494248A>C	ENST00000366574.2	+	3	556	c.239A>C	c.(238-240)gAg>gCg	p.E80A	RYR2_ENST00000542537.1_Missense_Mutation_p.E64A|RYR2_ENST00000360064.6_Silent_p.R78R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	80					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCGCTGCAGGAGATGCTGGCT	0.498													26	55					0	0	0	0	C	237494248	A	C	237494248	3	2	304	1	0	0	0	0	1	0	0	0	13854	304	11	5	249	5	RYR2	1	237494248	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	14328822	237494248	11756373	27	54396											
RYR2	6262	broad.mit.edu	37	chr1	237806679	237806679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattaggtccattttgagatCcctcattcccctgggagatt	9	14	8	10	0	1	2	1	1	0	2	4	4	4	2	4	2	0	0	4	2	2	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:237806679C>A	ENST00000366574.2	+	48	7591	c.7274C>A	c.(7273-7275)tCc>tAc	p.S2425Y	RYR2_ENST00000542537.1_Missense_Mutation_p.S2409Y|RYR2_ENST00000360064.6_Missense_Mutation_p.S2423Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2425	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTTGAGATCCCTCATTCCC	0.423													35	81					4.11147e-13	5.14907e-13	1	0	A	237806679	C	A	237806679	3	1	304	1	0	0	0	0	1	0	0	0	13854	855	30	2	7464	2	RYR2	1	237806679	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	312431	237806679	11443942	28	54397											
MSH6	2956	broad.mit.edu	37	chr2	48025991	48025991	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatagtgagagtgaaggccTgaacagccctgtcaaagttg	12	8	14	7	0	1	3	1	3	0	1	1	5	1	4	2	2	2	1	2	2	4	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:48025991T>C	ENST00000234420.4	+	4	1021	c.869T>C	c.(868-870)cTg>cCg	p.L290P	MSH6_ENST00000540021.1_Missense_Mutation_p.L160P|MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	290					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTGAAGGCCTGAACAGCCCT	0.493			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				5	233					0	0	0	0	C	48025991	T	C	48025991	3	2	304	1	0	0	0	0	1	0	0	0	9944	1580	55	5	883	5	MSH6	2	48025991	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08		48025991	195173382	29	54398											
ALMS1	7840	broad.mit.edu	37	chr2	73677702	73677702	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaccaacaggtcttgccaCatagtcatccaactgaagag	13	9	7	12	0	3	2	1	1	2	1	4	2	4	2	3	1	4	0	3	1	5	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:73677702C>G	ENST00000264448.6	+	8	4156	c.4045C>G	c.(4045-4047)Cat>Gat	p.H1349D	ALMS1_ENST00000409009.1_Missense_Mutation_p.H1307D|ALMS1_ENST00000377715.1_Missense_Mutation_p.H1349D	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1349	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGTCTTGCCACATAGTCATCC	0.458													4	189					0	0	0	0	G	73677702	C	G	73677702	3	3	304	1	0	0	0	0	1	0	0	0	535	478	17	4	4075	4	ALMS1	2	73677702	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	25651711	73677702	169521671	30	54399											
LRRTM4	80059	broad.mit.edu	37	chr2	77746577	77746577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcttattgtaggagaGgtccagattgcggagattgg	10	11	15	5	1	0	4	0	1	0	3	1	6	1	4	1	4	2	2	1	4	3	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:77746577G>A	ENST00000409088.3	-	3	832	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F	LRRTM4_ENST00000409282.1_Missense_Mutation_p.L141F|LRRTM4_ENST00000409093.1_Missense_Mutation_p.L140F|LRRTM4_ENST00000409884.1_Missense_Mutation_p.L140F|LRRTM4_ENST00000409911.1_Missense_Mutation_p.L141F	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	140						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTGTAGGAGAGGTCCAGATTG	0.393													20	29					0	0	0	0	A	77746577	G	A	77746577	3	1	304	1	0	0	0	0	1	0	0	0	9106	1000	35	4	1368	4	LRRTM4	2	77746577	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	4068875	77746577	165452796	31	54400											
USP39	10713	broad.mit.edu	37	chr2	85868160	85868160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttaccaagttgcctccatAtctaatcttttgtatcaaga	11	15	5	10	0	3	1	1	0	2	1	4	1	4	1	3	0	2	3	3	0	6	7			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:85868160A>G	ENST00000323701.6	+	10	1356	c.1346A>G	c.(1345-1347)tAt>tGt	p.Y449C	USP39_ENST00000409766.3_Missense_Mutation_p.Y449C|USP39_ENST00000409470.1_Missense_Mutation_p.Y449C|USP39_ENST00000409025.1_Missense_Mutation_p.Y449C|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Missense_Mutation_p.Y346C	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	449					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTGCCTCCATATCTAATCTTT	0.358													19	28					0	0	0	0	G	85868160	A	G	85868160	3	3	304	1	0	0	0	0	1	0	0	0	17166	449	16	5	1384	5	USP39	2	85868160	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	8121583	85868160	157331213	32	54401											
SNRNP200	23020	broad.mit.edu	37	chr2	96949626	96949626	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggtggcactgcagcccagCcagtgggccacatccttggc	7	6	14	14	0	0	0	0	0	0	0	1	1	1	0	4	4	3	2	4	4	0	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:96949626C>G	ENST00000323853.5	-	32	4586	c.4509G>C	c.(4507-4509)tgG>tgC	p.W1503C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1503	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGCAGCCCAGCCAGTGGGCCA	0.597													4	8					0	0	0	0	G	96949626	C	G	96949626	3	3	304	1	0	0	0	0	1	0	0	0	14940	740	26	4	1957	4	SNRNP200	2	96949626	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	11081466	96949626	146249747	33	54402											
NPAS2	4862	broad.mit.edu	37	chr2	101591346	101591346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccttaataccagtcattcgCcatcggcgtcctcaagaagt	10	10	8	13	3	2	1	2	0	0	1	5	1	3	1	4	1	1	0	4	1	4	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:101591346C>T	ENST00000335681.5	+	13	1507	c.1222C>T	c.(1222-1224)Cca>Tca	p.P408S	AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.P473S|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	408					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGTCATTCGCCATCGGCGTC	0.547													13	31					0	0	0	0	T	101591346	C	T	101591346	3	4	304	1	0	0	0	0	1	0	0	0	10633	739	26	4	1268	4	NPAS2	2	101591346	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	4641720	101591346	141608027	34	54403											
CNTNAP5	129684	broad.mit.edu	37	chr2	125192073	125192073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcccagaatcagatgttgCtgactttgatggccgaagct	9	12	11	9	1	1	4	1	2	0	2	2	5	2	4	2	1	2	4	2	1	2	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:125192073C>T	ENST00000431078.1	+	5	906	c.542C>T	c.(541-543)gCt>gTt	p.A181V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	181	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCAGATGTTGCTGACTTTGAT	0.418													15	69					0	0	0	0	T	125192073	C	T	125192073	3	4	304	1	0	0	0	0	1	0	0	0	3680	797	28	4	560	4	CNTNAP5	2	125192073	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	23600727	125192073	118007300	35	54404											
CNTNAP5	129684	broad.mit.edu	37	chr2	125281896	125281896	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcagcaacttgaatgaTggcctgtggcactcggttag	9	9	14	9	1	0	2	0	2	0	0	1	2	0	2	1	4	2	5	1	4	3	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:125281896T>A	ENST00000431078.1	+	9	1705	c.1341T>A	c.(1339-1341)gaT>gaA	p.D447E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	447	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACTTGAATGATGGCCTGTGGC	0.557													29	31					0	0	0	0	A	125281896	T	A	125281896	3	1	304	1	0	0	0	0	1	0	0	0	3680	1461	51	5	1375	5	CNTNAP5	2	125281896	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	89823	125281896	117917477	36	54405											
CNTNAP5	129684	broad.mit.edu	37	chr2	125320815	125320815	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttgccaaactactgtgaAcatggaggaagctgctccca	11	10	10	10	0	0	1	0	1	0	0	1	3	1	3	2	2	6	3	2	2	4	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:125320815A>T	ENST00000431078.1	+	11	2032	c.1668A>T	c.(1666-1668)gaA>gaT	p.E556D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	556	EGF-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACTACTGTGAACATGGAGGAA	0.413													3	10					0	0	0	0	T	125320815	A	T	125320815	3	4	304	1	0	0	0	0	1	0	0	0	3680	40	2	5	1710	5	CNTNAP5	2	125320815	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	38919	125320815	117878558	37	54406											
LRP1B	53353	broad.mit.edu	37	chr2	141460021	141460021	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcgatggagatgccattcGgccatgctattcccatgctt	8	12	10	11	2	0	1	0	0	0	1	3	3	1	1	3	2	3	2	3	2	1	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:141460021G>C	ENST00000389484.3	-	38	7096	c.6125C>G	c.(6124-6126)cCg>cGg	p.P2042R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2042					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATGCCATTCGGCCATGCTAT	0.428										TSP Lung(27;0.18)			13	53					0	0	0	0	C	141460021	G	C	141460021	3	2	304	1	0	0	0	0	1	0	0	0	9019	1116	39	3	7890	3	LRP1B	2	141460021	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	16139206	141460021	101739352	38	54407											
NEB	4703	broad.mit.edu	37	chr2	152427093	152427094	+	Frame_Shift_Ins	INS	-	-	C																															acagcccgccttcatttcatINScccagccctcacggtaaagt																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:152427093_152427094insC	ENST00000397345.3	-	108	17237_17238	c.17035_17036insG	c.(17035-17037)tgafs	p.*5679fs	NEB_ENST00000603639.1_Frame_Shift_Ins_p.*5679fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.*3978fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.*5679fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.*3978fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.*5679fs	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5696					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTCATTTCATCCCAGCCCTCA	0.48													10	8	---	---	---	---					C	152427094	-	C	152427093	7	5	304	1	0	1	1	0	0	0	0	0	10372	1435	50	0	8950	0	NEB	2	152427093	Frame_Shift_Ins	INS	-	TCGA-CV-7409-01A-31D-2229-08	10967072	152427093	90772280	39	54408											
NEB	4703	broad.mit.edu	37	chr2	152500369	152500369	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgccgagcatggatgAcatcgctctggtcgggcagg	7	7	16	11	3	1	1	0	1	1	0	3	3	1	2	2	5	2	3	2	5	0	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:152500369A>T	ENST00000427231.2	-	57	8121	c.7919T>A	c.(7918-7920)gTc>gAc	p.V2640D	NEB_ENST00000409198.1_Missense_Mutation_p.V2640D|NEB_ENST00000603639.1_Missense_Mutation_p.V2640D|NEB_ENST00000172853.10_Missense_Mutation_p.V2640D|NEB_ENST00000397345.3_Missense_Mutation_p.V2640D|NEB_ENST00000604864.1_Missense_Mutation_p.V2640D	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2640					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCATGGATGACATCGCTCTG	0.512													37	154					0	0	0	0	T	152500369	A	T	152500369	3	4	304	1	0	0	0	0	1	0	0	0	10372	275	10	5	18271	5	NEB	2	152500369	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	73276	152500369	90699004	40	54409											
ACVR1	90	broad.mit.edu	37	chr2	158595049	158595049	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtcattgggaaccacaTcgtagaacggtggcttgtaa	10	11	13	7	2	1	1	1	0	0	1	2	2	1	2	1	4	2	3	1	4	4	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:158595049T>A	ENST00000263640.3	-	10	1727	c.1298A>T	c.(1297-1299)gAt>gTt	p.D433V	ACVR1_ENST00000434821.1_Missense_Mutation_p.D433V|ACVR1_ENST00000409283.2_Missense_Mutation_p.D433V|ACVR1_ENST00000410057.2_Missense_Mutation_p.D433V	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	433	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GGGAACCACATCGTAGAACGG	0.463													29	101					0	0	0	0	A	158595049	T	A	158595049	3	1	304	1	0	0	0	0	1	0	0	0	220	1435	50	5	239	5	ACVR1	2	158595049	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	6094680	158595049	84604324	41	54410											
TTN	7273	broad.mit.edu	37	chr2	179436458	179436458	+	Missense_Mutation	SNP	G	G	A																															gtcaagaacgataacattaaGggtttcaatagcttcaccag																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:179436458G>A	ENST00000589042.1	-	326	74625	c.74401C>T	c.(74401-74403)Ctt>Ttt	p.L24801F	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L15736F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L15861F|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L22233F|TTN_ENST00000342175.6_Missense_Mutation_p.L15928F|TTN_ENST00000591111.1_Missense_Mutation_p.L23160F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23160	Fibronectin type-III 80.						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)			ATAACATTAAGGGTTTCAATA	0.433													34	44					0	0	0	0	A	179436458	G	A	179436458	3	1	304	1	0	0	0	0	1	0	0	0	16831	1000	35	4	33726	4	TTN	2	179436458	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	20841409	179436458	63762915	42	54411	437	2									
TTN	7273	broad.mit.edu	37	chr2	179436459	179436459	+	Silent	SNP	G	G	T																															tcaagaacgataacattaagGgtttcaatagcttcaccagc																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:179436459G>T	ENST00000589042.1	-	326	74624	c.74400C>A	c.(74398-74400)acC>acA	p.T24800T	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.T15735T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.T15860T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.T22232T|TTN_ENST00000342175.6_Silent_p.T15927T|TTN_ENST00000591111.1_Silent_p.T23159T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23159	Fibronectin type-III 80.						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)			TAACATTAAGGGTTTCAATAG	0.438													34	42					4.3181e-19	5.81114e-19	1	0	T	179436459	G	T	179436459	2	4	304	1	0	0	0	0	0	0	0	1	16831	1219	43	4		4	TTN	2	179436459	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	1	179436459	63762914	43	54412	437	2									
TTN	7273	broad.mit.edu	37	chr2	179458723	179458723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacagaaacctttcctagagCctgtactgttctccacaacc	11	10	6	14	0	1	2	0	0	1	2	3	3	2	2	5	0	4	2	5	0	4	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:179458723C>A	ENST00000589042.1	-	297	58621	c.58397G>T	c.(58396-58398)gGc>gTc	p.G19466V	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G10401V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G10526V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16898V|TTN_ENST00000342175.6_Missense_Mutation_p.G10593V|TTN_ENST00000591111.1_Missense_Mutation_p.G17825V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17825	Fibronectin type-III 41.						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)			TTTCCTAGAGCCTGTACTGTT	0.383													28	110					2.68265e-12	3.30749e-12	1	0	A	179458723	C	A	179458723	3	1	304	1	0	0	0	0	1	0	0	0	16831	739	26	4	49846	4	TTN	2	179458723	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	22264	179458723	63740650	44	54413											
TTN	7273	broad.mit.edu	37	chr2	179472023	179472023	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacaacaggttttaagtcaAgaactggaccagggacatct	14	10	9	8	0	2	1	1	0	1	1	2	3	2	3	1	3	3	1	1	3	5	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:179472023A>G	ENST00000589042.1	-	278	53530	c.53306T>C	c.(53305-53307)cTt>cCt	p.L17769P	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L8704P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L8829P|TTN_ENST00000342992.6_Missense_Mutation_p.L15201P|TTN_ENST00000342175.6_Missense_Mutation_p.L8896P|TTN_ENST00000591111.1_Missense_Mutation_p.L16128P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16128	Ig-like 104.						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)			TTTTAAGTCAAGAACTGGACC	0.358													11	52					0	0	0	0	G	179472023	A	G	179472023	3	3	304	1	0	0	0	0	1	0	0	0	16831	72	3	5	54727	5	TTN	2	179472023	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	13300	179472023	63727350	45	54414											
TTN	7273	broad.mit.edu	37	chr2	179635148	179635148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcaacttactctccacgtGcagtctggcactggctccaa	10	10	7	14	1	3	0	1	0	2	0	5	0	4	0	2	2	3	3	2	2	4	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:179635148G>T	ENST00000589042.1	-	35	8595	c.8371C>A	c.(8371-8373)Cac>Aac	p.H2791N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H2745N|TTN_ENST00000359218.5_Missense_Mutation_p.H2745N|TTN_ENST00000342992.6_Missense_Mutation_p.H2791N|TTN_ENST00000342175.6_Missense_Mutation_p.H2745N|TTN_ENST00000591111.1_Missense_Mutation_p.H2791N|TTN_ENST00000360870.5_Missense_Mutation_p.H2791N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2529							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)			CTCTCCACGTGCAGTCTGGCA	0.433													15	49					3.27435e-08	3.72469e-08	1	0	T	179635148	G	T	179635148	3	4	304	1	0	0	0	0	1	0	0	0	16831	1319	46	4	102929	4	TTN	2	179635148	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	163125	179635148	63564225	46	54415											
DNAH7	56171	broad.mit.edu	37	chr2	196682469	196682469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgcttttcttcttcaaGgtctggcctttcttgtgcca	3	18	9	11	0	5	0	1	0	4	0	5	0	5	0	2	3	2	2	2	3	1	7			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:196682469G>A	ENST00000312428.6	-	50	9476	c.9376C>T	c.(9376-9378)Ctt>Ttt	p.L3126F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3126	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTTCTTCAAGGTCTGGCCTT	0.343													7	31					0	0	0	0	A	196682469	G	A	196682469	3	1	304	1	0	0	0	0	1	0	0	0	4642	1000	35	4	2762	4	DNAH7	2	196682469	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	17047321	196682469	46516904	47	54416											
DNAH7	56171	broad.mit.edu	37	chr2	196750877	196750877	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccttacctcaagcaaagaGtaagtttctcgatcatttct	12	13	6	10	1	4	1	2	0	2	1	5	3	4	1	2	0	2	3	2	0	4	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:196750877G>A	ENST00000312428.6	-	34	5626	c.5526C>T	c.(5524-5526)taC>taT	p.Y1842Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1842					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAAGCAAAGAGTAAGTTTCTC	0.383													8	91					0	0	0	0	A	196750877	G	A	196750877	2	1	304	1	0	0	0	0	0	0	0	1	4642	1024	36	4		4	DNAH7	2	196750877	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	68408	196750877	46448496	48	54417											
SATB2	23314	broad.mit.edu	37	chr2	200193507	200193507	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccgctccctctcatcctGgtagatgcgatctcgctcca	5	11	8	17	3	2	1	1	0	2	1	8	2	6	1	4	1	1	4	4	1	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:200193507G>A	ENST00000443023.1	-	7	2588	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	SATB2_ENST00000428695.1_Nonsense_Mutation_p.Q316*|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Q434*|SATB2_ENST00000417098.1_Nonsense_Mutation_p.Q434*|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Q434*|RP11-486F17.1_ENST00000489557.2_RNA			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	434						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCTCATCCTGGTAGATGCGA	0.557													42	43					0	0	0	0	A	200193507	G	A	200193507	4	1	304	1	0	0	0	0	0	1	0	0	13940	1357	47	4	917	4	SATB2	2	200193507	Nonsense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	3442630	200193507	43005866	49	54418											
TTLL4	9654	broad.mit.edu	37	chr2	219602784	219602784	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctataggcaaaaaccgtacCagcaactggagtctttctgc	12	9	9	11	1	2	0	0	0	2	0	2	1	2	1	2	2	5	4	2	2	6	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:219602784C>T	ENST00000392102.1	+	3	725	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	TTLL4_ENST00000457313.1_5'UTR|TTLL4_ENST00000442769.1_Nonsense_Mutation_p.Q129*|TTLL4_ENST00000258398.4_Nonsense_Mutation_p.Q129*	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	129					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AAAACCGTACCAGCAACTGGA	0.532													61	45					0	0	0	0	T	219602784	C	T	219602784	4	4	304	1	0	0	0	0	0	1	0	0	16825	595	21	4	387	4	TTLL4	2	219602784	Nonsense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	19409277	219602784	23596589	50	54419											
SPHKAP	80309	broad.mit.edu	37	chr2	228996727	228996727	+	Missense_Mutation	SNP	C	C	A																															ctgtgatggagttccccgggCcgcttcctgagctgccacag																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:228996727C>A	ENST00000392056.3	-	2	153	c.107G>T	c.(106-108)gGc>gTc	p.G36V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G36V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	36						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTCCCCGGGCCGCTTCCTGA	0.463													23	18					1.66031e-10	1.9974e-10	1	0	A	228996727	C	A	228996727	3	1	304	1	0	0	0	0	1	0	0	0	15138	739	26	4	5039	4	SPHKAP	2	228996727	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	9393943	228996727	14202646	51	54420	438	2									
SPHKAP	80309	broad.mit.edu	37	chr2	228996728	228996728	+	Missense_Mutation	SNP	C	C	G																															tgtgatggagttccccgggcCgcttcctgagctgccacagc																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:228996728C>G	ENST00000392056.3	-	2	152	c.106G>C	c.(106-108)Ggc>Cgc	p.G36R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G36R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	36						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCCCCGGGCCGCTTCCTGAG	0.463													23	19					0	0	0	0	G	228996728	C	G	228996728	3	3	304	1	0	0	0	0	1	0	0	0	15138	652	23	3	5040	3	SPHKAP	2	228996728	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1	228996728	14202645	52	54421	438	2									
CHRNG	1146	broad.mit.edu	37	chr2	233407649	233407649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctcctggacccagcggCgccagcccaggaagcaggcc	8	3	14	16	2	0	0	0	0	0	0	1	3	1	2	5	4	4	2	5	4	1	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:233407649C>T	ENST00000389494.3	+	7	683	c.662C>T	c.(661-663)gCg>gTg	p.A221V	CHRNG_ENST00000389492.3_Missense_Mutation_p.A169V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	221					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GACCCAGCGGCGCCAGCCCAG	0.632													11	37					0	0	0	0	T	233407649	C	T	233407649	3	4	304	1	0	0	0	0	1	0	0	0	3425	768	27	1	688	1	CHRNG	2	233407649	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	4410921	233407649	9791724	53	54422											
INPP5D	3635	broad.mit.edu	37	chr2	234072460	234072460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatgacatttacgtgatcGgcacccaagaggaccccctg	10	7	9	15	2	0	3	0	2	0	1	1	4	0	4	4	2	1	1	4	2	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:234072460G>A	ENST00000359570.5	+	14	1312	c.1312G>A	c.(1312-1314)Ggc>Agc	p.G438S	INPP5D_ENST00000455936.2_Missense_Mutation_p.G202S|INPP5D_ENST00000450745.1_Missense_Mutation_p.G202S|INPP5D_ENST00000538935.1_Missense_Mutation_p.G437S			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	450					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TTACGTGATCGGCACCCAAGA	0.552													39	37					0	0	0	0	A	234072460	G	A	234072460	3	1	304	1	0	0	0	0	1	0	0	0	7809	1116	39	1	902	1	INPP5D	2	234072460	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	664811	234072460	9126913	54	54423											
COL6A3	1293	broad.mit.edu	37	chr2	238275606	238275606	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcaatctgagggacccGctggtccaggcggctgcctg	8	6	15	12	2	1	1	0	1	1	0	2	2	2	2	3	5	1	3	3	5	2	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:238275606G>T	ENST00000295550.4	-	11	5676	c.5224C>A	c.(5224-5226)Cgg>Agg	p.R1742R	COL6A3_ENST00000472056.1_Silent_p.R1135R|COL6A3_ENST00000353578.4_Silent_p.R1536R|COL6A3_ENST00000409809.1_Silent_p.R1536R|COL6A3_ENST00000347401.3_Silent_p.R1541R|COL6A3_ENST00000346358.4_Silent_p.R1542R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1742	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGAGGGACCCGCTGGTCCAGG	0.592													25	19					4.4004e-07	4.93491e-07	1	0	T	238275606	G	T	238275606	2	4	304	1	0	0	0	0	0	0	0	1	3731	1086	38	3		3	COL6A3	2	238275606	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	4203146	238275606	4923767	55	54424											
SETD5	55209	broad.mit.edu	37	chr3	9512328	9512328	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggacatcagaccctcgtGagaaactcagaccaggcatt	13	7	10	11	1	2	3	2	1	0	3	3	6	2	4	2	2	1	1	2	2	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:9512328G>A	ENST00000402466.1	+	20	3384	c.2616G>A	c.(2614-2616)gtG>gtA	p.V872V	SETD5_ENST00000407969.1_Silent_p.V989V|SETD5_ENST00000302463.6_Silent_p.V872V|SETD5_ENST00000406341.1_Silent_p.V970V|SETD5_ENST00000402198.1_Silent_p.V970V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	970								p.D866_R873delDGHQTLVR(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCCTCGTGAGAAACTCAG	0.517													62	44					0	0	0	0	A	9512328	G	A	9512328	2	1	304	1	0	0	0	0	0	0	0	1	14221	1277	45	2		2	SETD5	3	9512328	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08		9512328	188510102	56	54425											
STT3B	201595	broad.mit.edu	37	chr3	31658535	31658535	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcactagctgcaggtgctgTgttccttagtgtcatctatt	7	16	9	9	0	3	0	2	0	1	0	4	0	4	0	1	1	3	4	1	1	3	5	rs35863057		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:31658535T>A	ENST00000295770.2	+	7	1300	c.1091T>A	c.(1090-1092)gTg>gAg	p.V364E	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	364					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						GCAGGTGCTGTGTTCCTTAGT	0.383													69	47					0	0	0	0	A	31658535	T	A	31658535	3	1	304	1	0	0	0	0	1	0	0	0	15424	1696	59	5	1117	5	STT3B	3	31658535	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	22146207	31658535	166363895	57	54426											
GLB1	2720	broad.mit.edu	37	chr3	33099621	33099621	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtagaggccctgcagggcCccacatttcaggaatgtttt	8	11	12	10	0	1	1	1	0	0	1	1	2	1	2	3	3	1	3	3	3	2	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:33099621C>A	ENST00000307363.5	-	6	837	c.693G>T	c.(691-693)ggG>ggT	p.G231G	GLB1_ENST00000445488.2_Silent_p.G279G|GLB1_ENST00000399402.3_Silent_p.G201G|GLB1_ENST00000307377.8_Intron	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	231					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	p.A232fs*27(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CCTGCAGGGCCCCACATTTCA	0.488													11	11					1.08611e-07	1.22845e-07	1	0	A	33099621	C	A	33099621	2	1	304	1	0	0	0	0	0	0	0	1	6478	610	22	4		4	GLB1	3	33099621	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1441086	33099621	164922809	58	54427											
DCLK3	85443	broad.mit.edu	37	chr3	36779293	36779293	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcgggtcctgcggagCttctcaaagcccgcctggtg	4	10	12	15	3	2	0	1	0	2	0	6	1	3	1	4	3	3	1	4	3	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:36779293C>G	ENST00000416516.2	-	2	1348	c.858G>C	c.(856-858)aaG>aaC	p.K286N		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	286						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCTGCGGAGCTTCTCAAAGC	0.572													59	44					0	0	0	0	G	36779293	C	G	36779293	3	3	304	1	0	0	0	0	1	0	0	0	4325	796	28	4	1104	4	DCLK3	3	36779293	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	3679672	36779293	161243137	59	54428											
DOCK3	1795	broad.mit.edu	37	chr3	51394511	51394511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcaacattaacctgctaaGcatgtgcctgaatggtgtca	11	11	10	9	0	1	1	1	1	0	0	1	1	1	1	2	2	5	3	2	2	4	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:51394511G>T	ENST00000266037.9	+	44	4645	c.4622G>T	c.(4621-4623)aGc>aTc	p.S1541I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1541	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AACCTGCTAAGCATGTGCCTG	0.517													20	74					6.33239e-15	8.05756e-15	1	0	T	51394511	G	T	51394511	3	4	304	1	0	0	0	0	1	0	0	0	4724	971	34	4	4796	4	DOCK3	3	51394511	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	14615218	51394511	146627919	60	54429											
NISCH	11188	broad.mit.edu	37	chr3	52504899	52504899	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatggcatcaccgcggcaCtggctgaagagctctttgag	10	9	12	10	2	2	3	1	2	1	1	2	3	2	3	1	3	1	4	1	3	3	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:52504899C>G	ENST00000345716.4	+	4	519	c.385C>G	c.(385-387)Ctg>Gtg	p.L129V	NISCH_ENST00000420808.2_Missense_Mutation_p.L129V|NISCH_ENST00000488380.1_Missense_Mutation_p.L129V|NISCH_ENST00000479054.1_Missense_Mutation_p.L129V	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	129	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CACCGCGGCACTGGCTGAAGA	0.507													66	53					0	0	0	0	G	52504899	C	G	52504899	3	3	304	1	0	0	0	0	1	0	0	0	10502	564	20	4	399	4	NISCH	3	52504899	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1110388	52504899	145517531	61	54430											
KBTBD8	84541	broad.mit.edu	37	chr3	67058734	67058734	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtatgagaccccagatcgGctctgggaccttggccggca	7	8	14	12	2	1	2	0	1	1	2	2	4	1	3	4	4	0	3	4	4	1	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:67058734G>T	ENST00000295568.4	+	4	1784	c.1653G>T	c.(1651-1653)cgG>cgT	p.R551R	KBTBD8_ENST00000417314.2_Silent_p.R577R|KBTBD8_ENST00000460576.1_Silent_p.R135R	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	577										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CCCCAGATCGGCTCTGGGACC	0.448													27	21					2.79863e-10	3.34656e-10	1	0	T	67058734	G	T	67058734	2	4	304	1	0	0	0	0	0	0	0	1	8052	1190	42	4		4	KBTBD8	3	67058734	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	14553835	67058734	130963696	62	54431											
TMF1	7110	broad.mit.edu	37	chr3	69096945	69096945	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaatcatctaaacgattaTattcaggacaagcagatgca	17	9	8	7	1	3	1	2	0	1	1	3	4	3	3	0	2	3	2	0	2	6	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:69096945T>C	ENST00000543976.1	-	2	1157	c.911A>G	c.(910-912)tAt>tGt	p.Y304C	CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.Y304C|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	304					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TAAACGATTATATTCAGGACA	0.398													10	27					0	0	0	0	C	69096945	T	C	69096945	3	2	304	1	0	0	0	0	1	0	0	0	16322	1406	49	5	2434	5	TMF1	3	69096945	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	2038211	69096945	128925485	63	54432											
ARL13B	200894	broad.mit.edu	37	chr3	93714736	93714736	+	Missense_Mutation	SNP	G	G	T																															agaaaggtgactcttttgatGgtgggacttgataatgctgg																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:93714736G>T	ENST00000394222.3	+	2	353	c.78G>T	c.(76-78)atG>atT	p.M26I	ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.M26I|ARL13B_ENST00000303097.7_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	26							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						CTCTTTTGATGGTGGGACTTG	0.289													11	29					3.86212e-05	4.21226e-05	1	0	T	93714736	G	T	93714736	3	4	304	1	0	0	0	0	1	0	0	0	931	1348	47	4	84	4	ARL13B	3	93714736	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	24617791	93714736	104307694	64	54433	439	2									
ARL13B	200894	broad.mit.edu	37	chr3	93714737	93714737	+	Missense_Mutation	SNP	G	G	T																															gaaaggtgactcttttgatgGtgggacttgataatgctggt																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:93714737G>T	ENST00000394222.3	+	2	354	c.79G>T	c.(79-81)Gtg>Ttg	p.V27L	ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.V27L|ARL13B_ENST00000303097.7_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	27							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TCTTTTGATGGTGGGACTTGA	0.294													11	29					3.86212e-05	4.21226e-05	1	0	T	93714737	G	T	93714737	3	4	304	1	0	0	0	0	1	0	0	0	931	1261	44	4	85	4	ARL13B	3	93714737	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	1	93714737	104307693	65	54434	439	2									
TOMM70A	9868	broad.mit.edu	37	chr3	100093901	100093901	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctgcattctgaggatcGatgtcagcagccatgttaaa	12	11	9	9	1	3	1	1	1	2	0	4	3	3	2	1	1	3	3	1	1	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:100093901G>T	ENST00000284320.5	-	7	1636	c.1188C>A	c.(1186-1188)atC>atA	p.I396I		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	396					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TCTGAGGATCGATGTCAGCAG	0.438													16	107					3.41278e-10	4.06869e-10	1	0	T	100093901	G	T	100093901	2	4	304	1	0	0	0	0	0	0	0	1	16457	1048	37	3		3	TOMM70A	3	100093901	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	6379164	100093901	97928529	66	54435											
CCDC54	84692	broad.mit.edu	37	chr3	107097154	107097154	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagcaaagccaaatatttaCatttacccagacttcagtac	17	10	4	10	0	1	1	1	0	0	1	1	1	1	1	2	0	5	2	2	0	7	7			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:107097154C>T	ENST00000261058.1	+	1	967	c.720C>T	c.(718-720)taC>taT	p.Y240Y		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	240										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CAAATATTTACATTTACCCAG	0.353													47	93					0	0	0	0	T	107097154	C	T	107097154	2	4	304	1	0	0	0	0	0	0	0	1	2851	489	17	4		4	CCDC54	3	107097154	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	7003253	107097154	90925276	67	54436											
DPPA4	55211	broad.mit.edu	37	chr3	109052773	109052773	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgctgatgttcctggcAaagcaattgaatttggttga	9	16	10	6	0	1	3	0	3	1	0	2	3	2	3	1	2	2	5	1	2	3	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:109052773A>C	ENST00000335658.6	-	2	176	c.122T>G	c.(121-123)tTg>tGg	p.L41W	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	41						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGTTCCTGGCAAAGCAATTGA	0.453													40	39					0	0	0	0	C	109052773	A	C	109052773	3	2	304	1	0	0	0	0	1	0	0	0	4772	131	5	5	816	5	DPPA4	3	109052773	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	1955619	109052773	88969657	68	54437											
GOLGB1	2804	broad.mit.edu	37	chr3	121413564	121413564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgcttccattaagttctgCtaattgattcataagcctct	11	16	5	9	0	3	1	1	1	2	0	4	1	4	1	2	0	3	3	2	0	4	7			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:121413564C>A	ENST00000393667.3	-	13	5916	c.5806G>T	c.(5806-5808)Gca>Tca	p.A1936S	GOLGB1_ENST00000340645.5_Missense_Mutation_p.A1931S	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1931					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTAAGTTCTGCTAATTGATTC	0.363													81	77					8.6838e-40	1.31583e-39	1	0	A	121413564	C	A	121413564	3	1	304	1	0	0	0	0	1	0	0	0	6613	797	28	4	4028	4	GOLGB1	3	121413564	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	12360791	121413564	76608866	69	54438											
PLXND1	23129	broad.mit.edu	37	chr3	129286540	129286540	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcagggtccccgcccactaCctttgcggatttcctctcgg	4	11	10	16	3	1	0	0	0	1	0	4	1	3	1	5	3	3	1	5	3	1	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:129286540C>A	ENST00000393239.1	-	21	4152		c.e21+1		PLXND1_ENST00000324093.4_Splice_Site			Q9Y4D7	PLXD1_HUMAN	plexin D1						axon guidance	integral to membrane|intracellular|plasma membrane		p.?(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCGCCCACTACCTTTGCGGAT	0.612													9	32					0.000442599	0.000469818	1	0	A	129286540	C	A	129286540	5	1	304	1	0	0	0	0	0	0	1	0	12199	521	18	4	1867	4	PLXND1	3	129286540	Splice_Site	SNP	C	TCGA-CV-7409-01A-31D-2229-08	7872976	129286540	68735890	70	54439											
EPHB1	2047	broad.mit.edu	37	chr3	134670219	134670219	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctatgtacagtgggaaGaagtcagtggctacgatgaa	12	9	13	7	1	1	2	1	1	0	1	1	4	1	3	1	2	3	3	1	2	6	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:134670219G>T	ENST00000398015.3	+	3	500	c.130G>T	c.(130-132)Gaa>Taa	p.E44*	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	44						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACAGTGGGAAGAAGTCAGTGG	0.483													8	19					0.00307968	0.00317567	1	0	T	134670219	G	T	134670219	4	4	304	1	0	0	0	0	0	1	0	0	5212	943	33	2	140	2	EPHB1	3	134670219	Nonsense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	5383679	134670219	63352211	71	54440											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721837	135721837	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagagggagaccagagagaTtttacaaattccagtagcca	16	7	11	7	0	0	4	0	0	0	4	1	7	1	4	3	1	2	1	3	1	4	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:135721837T>C	ENST00000264977.3	+	2	2114	c.1497T>C	c.(1495-1497)gaT>gaC	p.D499D	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	499					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACCAGAGAGATTTTACAAATT	0.338													27	67					0	0	0	0	C	135721837	T	C	135721837	2	2	304	1	0	0	0	0	0	0	0	1	12464	1490	52	5		5	PPP2R3A	3	135721837	Silent	SNP	T	TCGA-CV-7409-01A-31D-2229-08	1051618	135721837	62300593	72	54441											
CP	1356	broad.mit.edu	37	chr3	148916310	148916310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctacttctttggggacagtCcattcataggtgaatgtttc	8	15	9	9	0	2	1	1	1	1	0	4	2	3	2	2	3	1	1	2	3	3	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:148916310C>A	ENST00000264613.6	-	9	1819	c.1557G>T	c.(1555-1557)tgG>tgT	p.W519C		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	519	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TGGGGACAGTCCATTCATAGG	0.468													14	42					0.00185496	0.00193286	1	0	A	148916310	C	A	148916310	3	1	304	1	0	0	0	0	1	0	0	0	3817	856	30	2	1684	2	CP	3	148916310	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	13194473	148916310	49106120	73	54442											
AADACL2	344752	broad.mit.edu	37	chr3	151474781	151474781	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaccatatattttcaggTgcagaatgatgctgaaataa	15	14	7	5	0	1	3	1	2	0	1	1	3	1	3	1	1	3	2	1	1	7	7			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:151474781T>C	ENST00000356517.3	+	5	714	c.603_splice	c.e5-1	p.V202_splice	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	202						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TATTTTCAGGTGCAGAATGAT	0.303													32	29					0	0	0	0	C	151474781	T	C	151474781	5	2	304	1	0	0	0	0	0	0	1	0	11	1710	59	5	623	5	AADACL2	3	151474781	Splice_Site	SNP	T	TCGA-CV-7409-01A-31D-2229-08	2558471	151474781	46547649	74	54443											
MME	4311	broad.mit.edu	37	chr3	154832816	154832816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaacatggatgccaccaCtgagccttgtacagactttt	12	10	7	12	0	0	2	0	1	0	1	0	3	0	3	4	1	4	1	4	1	3	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:154832816C>A	ENST00000460393.1	+	4	350	c.230C>A	c.(229-231)aCt>aAt	p.T77N	MME_ENST00000462745.1_Missense_Mutation_p.T77N|MME_ENST00000493237.1_Missense_Mutation_p.T77N|MME_ENST00000492661.1_Missense_Mutation_p.T77N|MME_ENST00000477669.1_3'UTR|MME_ENST00000360490.2_Missense_Mutation_p.T77N	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	77					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GATGCCACCACTGAGCCTTGT	0.428													36	94					2.87052e-16	3.73638e-16	1	0	A	154832816	C	A	154832816	3	1	304	1	0	0	0	0	1	0	0	0	9714	565	20	4	240	4	MME	3	154832816	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	3358035	154832816	43189614	75	54444											
PPM1L	151742	broad.mit.edu	37	chr3	160474461	160474461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggccaacaagacgcacccgtCcatcttcgggatcttcgacg	9	7	10	15	5	2	1	0	0	2	1	5	3	3	2	3	2	1	1	3	2	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:160474461C>G	ENST00000498165.1	+	1	466	c.365C>G	c.(364-366)tCc>tGc	p.S122C	PPM1L_ENST00000497343.1_Missense_Mutation_p.S122C	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	122	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACGCACCCGTCCATCTTCGGG	0.582													10	78					0	0	0	0	G	160474461	C	G	160474461	3	3	304	1	0	0	0	0	1	0	0	0	12420	855	30	2	367	2	PPM1L	3	160474461	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	5641645	160474461	37547969	76	54445											
SLITRK3	22865	broad.mit.edu	37	chr3	164908119	164908119	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacttaggttccgaaatgccCcactctcaatacgtttaatg	11	13	6	11	2	1	0	1	0	1	0	3	1	2	0	3	1	3	2	3	1	6	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:164908119C>G	ENST00000475390.1	-	2	943	c.500G>C	c.(499-501)gGg>gCg	p.G167A	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G167A			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	167						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCGAAATGCCCCACTCTCAAT	0.378										HNSCC(40;0.11)			11	44					0	0	0	0	G	164908119	C	G	164908119	3	3	304	1	0	0	0	0	1	0	0	0	14832	623	22	4	2437	4	SLITRK3	3	164908119	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	4433658	164908119	33114311	77	54446											
SPATA16	83893	broad.mit.edu	37	chr3	172737301	172737301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctgaatacctctccaGacatctaaacactgttgctt	11	12	5	13	0	3	2	0	1	3	1	4	2	3	2	3	0	4	2	3	0	4	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:172737301G>T	ENST00000351008.3	-	4	1006	c.823C>A	c.(823-825)Ctg>Atg	p.L275M		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	275					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TACCTCTCCAGACATCTAAAC	0.348													66	168					2.0493e-37	3.08171e-37	1	0	T	172737301	G	T	172737301	3	4	304	1	0	0	0	0	1	0	0	0	15091	933	33	2	918	2	SPATA16	3	172737301	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	7829182	172737301	25285129	78	54447											
ETV5	2119	broad.mit.edu	37	chr3	185783684	185783684	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggggccctggcatgccCgggaccccatgttcatagag	6	7	15	13	1	1	1	1	0	0	1	1	2	1	2	4	4	1	3	4	4	1	2	rs146875211		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:185783684C>T	ENST00000306376.5	-	8	1074	c.828G>A	c.(826-828)ccG>ccA	p.P276P	ETV5_ENST00000434744.1_Silent_p.P276P|ETV5_ENST00000537818.1_Silent_p.P318P	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	276					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CTGGCATGCCCGGGACCCCAT	0.562			T	"TMPRSS2, SCL45A3"	Prostate								30	155					0	0	0	0	T	185783684	C	T	185783684	2	4	304	1	0	0	0	0	0	0	0	1	5320	639	23	1		1	ETV5	3	185783684	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	13046383	185783684	12238746	79	54448											
ATP13A4	84239	broad.mit.edu	37	chr3	193183873	193183873	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggtggctgttcctacaaGgcacaggaggaacctgatgg	11	8	14	8	0	0	1	0	1	0	0	1	3	1	3	2	6	2	3	2	6	4	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:193183873G>C	ENST00000342695.4	-	11	1535	c.1213C>G	c.(1213-1215)Ctt>Gtt	p.L405V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.L405V|ATP13A4_ENST00000295548.3_Missense_Mutation_p.L405V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	405					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTTCCTACAAGGCACAGGAGG	0.453													100	245					0	0	0	0	C	193183873	G	C	193183873	3	2	304	1	0	0	0	0	1	0	0	0	1130	1000	35	4	2457	4	ATP13A4	3	193183873	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	7400189	193183873	4838557	80	54449											
WDR1	9948	broad.mit.edu	37	chr4	10100635	10100635	+	Missense_Mutation	SNP	C	C	A																															cttctcccttccttccccgaCcacggcgatcctcttactgt																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:10100635C>A	ENST00000382452.2	-	4	640	c.358G>T	c.(358-360)Gtc>Ttc	p.V120F	WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Missense_Mutation_p.V120F	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	120					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCTTCCCCGACCACGGCGATC	0.562													16	85					5.01169e-05	5.43618e-05	1	0	A	10100635	C	A	10100635	3	1	304	1	0	0	0	0	1	0	0	0	17368	507	18	4	1510	4	WDR1	4	10100635	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08		10100635	181053641	81	54450	440	2									
WDR1	9948	broad.mit.edu	37	chr4	10100636	10100636	+	Silent	SNP	C	C	A																															ttctcccttccttccccgacCacggcgatcctcttactgtc																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:10100636C>A	ENST00000382452.2	-	4	639	c.357G>T	c.(355-357)gtG>gtT	p.V119V	WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Silent_p.V119V	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	119					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTTCCCCGACCACGGCGATCC	0.557													16	84					5.01169e-05	5.43618e-05	1	0	A	10100636	C	A	10100636	2	1	304	1	0	0	0	0	0	0	0	1	17368	581	21	4		4	WDR1	4	10100636	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1	10100636	181053640	82	54451	440	2									
SPATA18	132671	broad.mit.edu	37	chr4	52944914	52944914	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgcaggaggcattccatgTagcaaaaatggcattcagac	13	9	11	8	0	1	1	1	0	0	1	2	2	2	2	1	3	2	5	1	3	3	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:52944914T>A	ENST00000295213.4	+	8	1408	c.1034T>A	c.(1033-1035)gTa>gAa	p.V345E	SPATA18_ENST00000419395.2_Missense_Mutation_p.V313E	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	345					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCATTCCATGTAGCAAAAATG	0.393													14	48					0	0	0	0	A	52944914	T	A	52944914	3	1	304	1	0	0	0	0	1	0	0	0	15093	1638	57	5	1064	5	SPATA18	4	52944914	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	42844278	52944914	138209362	83	54452											
UGT2A3	79799	broad.mit.edu	37	chr4	69796895	69796895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagatcattctggggtatCcaatcatacagccgagtatt	13	11	9	8	1	3	2	2	0	1	2	4	3	4	2	2	2	2	2	2	2	5	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:69796895C>A	ENST00000251566.4	-	4	1092	c.1062G>T	c.(1060-1062)tgG>tgT	p.W354C	UGT2A3_ENST00000420231.2_Missense_Mutation_p.W65C	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	354						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTGGGGTATCCAATCATACA	0.373													18	29					4.35082e-09	5.06532e-09	1	0	A	69796895	C	A	69796895	3	1	304	1	0	0	0	0	1	0	0	0	17051	856	30	2	533	2	UGT2A3	4	69796895	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	16851981	69796895	121357381	84	54453											
ALB	213	broad.mit.edu	37	chr4	74274382	74274382	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatggtgaaatggctgactgCtgtgcaaaacaagaacctga	14	9	11	7	0	0	4	0	3	0	1	0	4	0	4	1	2	4	3	1	2	6	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:74274382C>A	ENST00000295897.4	+	4	431	c.342C>A	c.(340-342)tgC>tgA	p.C114*	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Nonsense_Mutation_p.C114*|ALB_ENST00000415165.2_Intron|ALB_ENST00000503124.1_Intron|ALB_ENST00000401494.3_Intron	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	114	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGGCTGACTGCTGTGCAAAAC	0.438													8	31					1.76689e-08	2.01568e-08	1	0	A	74274382	C	A	74274382	4	1	304	1	0	0	0	0	0	1	0	0	486	805	28	4	356	4	ALB	4	74274382	Nonsense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	4477487	74274382	116879894	85	54454											
PPEF2	5470	broad.mit.edu	37	chr4	76813035	76813035	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgctgcccagcatattctAtagactggaagatgctccag	10	11	9	11	0	1	2	0	0	1	2	2	3	2	3	2	1	4	3	2	1	4	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:76813035A>G	ENST00000286719.7	-	3	508	c.152T>C	c.(151-153)aTa>aCa	p.I51T		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	51					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGCATATTCTATAGACTGGAA	0.592													42	50					0	0	0	0	G	76813035	A	G	76813035	3	3	304	1	0	0	0	0	1	0	0	0	12379	449	16	5	2169	5	PPEF2	4	76813035	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	2538653	76813035	114341241	86	54455											
PKD2	5311	broad.mit.edu	37	chr4	88968011	88968011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaattgtctggatgttGtgatcgttgtggtaggtttg	5	18	15	3	1	2	1	0	1	2	0	3	3	2	3	0	4	0	4	0	4	2	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:88968011G>T	ENST00000237596.2	+	6	1603	c.1537G>T	c.(1537-1539)Gtg>Ttg	p.V513L	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	513						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCTGGATGTTGTGATCGTTGT	0.363													32	41					8.16721e-17	1.06657e-16	1	0	T	88968011	G	T	88968011	3	4	304	1	0	0	0	0	1	0	0	0	12038	1377	48	4	1559	4	PKD2	4	88968011	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	12154976	88968011	102186265	87	54456											
MMRN1	22915	broad.mit.edu	37	chr4	90874518	90874518	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaggaacaattccagcCaagtttccccctgttactac	13	9	6	13	0	0	0	0	0	0	0	2	1	2	1	4	1	4	3	4	1	7	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:90874518C>A	ENST00000394980.1	+	9	3955	c.3636C>A	c.(3634-3636)gcC>gcA	p.A1212A	MMRN1_ENST00000508372.1_Silent_p.A954A|MMRN1_ENST00000394981.1_Silent_p.A515A|MMRN1_ENST00000264790.2_Silent_p.A1212A			Q13201	MMRN1_HUMAN	multimerin 1	1212	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAATTCCAGCCAAGTTTCCCC	0.368													11	59					1.58986e-06	1.77297e-06	1	0	A	90874518	C	A	90874518	2	1	304	1	0	0	0	0	0	0	0	1	9740	581	21	4		4	MMRN1	4	90874518	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1906507	90874518	100279758	88	54457											
TACR3	6870	broad.mit.edu	37	chr4	104512796	104512796	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaatatgatagggcagccaGcagatagcaaatgtcatgac	16	8	10	7	0	1	3	1	2	0	1	1	3	1	3	1	1	3	3	1	1	6	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:104512796G>T	ENST00000304883.2	-	4	1073	c.933C>A	c.(931-933)tgC>tgA	p.C311*	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	311						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGGGCAGCCAGCAGATAGCAA	0.343													16	13					6.31663e-08	7.16486e-08	1	0	T	104512796	G	T	104512796	4	4	304	1	0	0	0	0	0	1	0	0	15598	963	34	4	472	4	TACR3	4	104512796	Nonsense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	13638278	104512796	86641480	89	54458											
ANK2	287	broad.mit.edu	37	chr4	114163291	114163291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaatcactcctctgcatgtgGcttccaaaagaggaaataca	14	9	8	10	0	2	1	1	0	1	1	4	3	4	2	2	2	2	2	2	2	5	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:114163291G>T	ENST00000357077.4	+	9	870	c.817G>T	c.(817-819)Gct>Tct	p.A273S	ANK2_ENST00000394537.3_Missense_Mutation_p.A273S|ANK2_ENST00000506722.1_Missense_Mutation_p.A252S|ANK2_ENST00000264366.6_Missense_Mutation_p.A273S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	273					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTGCATGTGGCTTCCAAAAG	0.458													8	38					3.09899e-07	3.48526e-07	1	0	T	114163291	G	T	114163291	3	4	304	1	0	0	0	0	1	0	0	0	621	1203	42	4	876	4	ANK2	4	114163291	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	9650495	114163291	76990985	90	54459											
PDE5A	8654	broad.mit.edu	37	chr4	120422353	120422353	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgcaagcagatggcatctAtgaacccaacttgcatactt	12	11	8	10	0	1	2	0	1	1	1	1	2	1	2	1	1	6	5	1	1	5	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:120422353A>G	ENST00000354960.3	-	20	2781	c.2462T>C	c.(2461-2463)aTa>aCa	p.I821T	PDE5A_ENST00000394439.1_Missense_Mutation_p.I769T|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.I779T	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	821	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GATGGCATCTATGAACCCAAC	0.348													16	22					0	0	0	0	G	120422353	A	G	120422353	3	3	304	1	0	0	0	0	1	0	0	0	11715	449	16	5	173	5	PDE5A	4	120422353	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	6259062	120422353	70731923	91	54460											
KIAA1109	84162	broad.mit.edu	37	chr4	123192226	123192226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaaccagcattaatgttggGaacctttagcatcagtgctg	12	11	9	9	0	1	0	1	0	0	0	1	1	1	1	2	1	5	4	2	1	4	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:123192226G>T	ENST00000264501.4	+	47	7920	c.7547G>T	c.(7546-7548)gGa>gTa	p.G2516V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.G2516V|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G2516V			Q2LD37	K1109_HUMAN	KIAA1109	2516					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTAATGTTGGGAACCTTTAGC	0.418													22	38					1.28384e-07	1.44797e-07	1	0	T	123192226	G	T	123192226	3	4	304	1	0	0	0	0	1	0	0	0	8259	1174	41	2	7725	2	KIAA1109	4	123192226	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	2769873	123192226	67962050	92	54461											
CLGN	1047	broad.mit.edu	37	chr4	141310459	141310459	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcatctgcttctttcatCtagaaaaaataattatgaaa	15	15	3	8	0	5	2	2	1	4	1	6	2	5	2	0	0	1	1	0	0	7	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:141310459C>G	ENST00000325617.5	-	15	2193		c.e15-1		CLGN_ENST00000537281.1_Splice_Site|CLGN_ENST00000414773.1_Splice_Site	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin						protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTTCTTTCATCTAGAAAAAAT	0.299													20	40					0	0	0	0	G	141310459	C	G	141310459	5	3	304	1	0	0	0	0	0	0	1	0	3554	927	32	2	84	2	CLGN	4	141310459	Splice_Site	SNP	C	TCGA-CV-7409-01A-31D-2229-08	18118233	141310459	49843817	93	54462											
RNF150	57484	broad.mit.edu	37	chr4	141888963	141888963	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacggtgatgtttctttcCagcaggcttactatctcctt	6	16	8	11	1	3	1	1	1	2	0	5	1	4	1	2	2	2	3	2	2	2	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:141888963C>A	ENST00000306799.3	-	2	1202	c.549G>T	c.(547-549)ctG>ctT	p.L183L	RNF150_ENST00000420921.2_Silent_p.L42L|RNF150_ENST00000515673.1_Silent_p.L183L|RNF150_ENST00000507500.1_Silent_p.L183L|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000379512.2_Silent_p.L42L	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	183	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TGTTTCTTTCCAGCAGGCTTA	0.478													59	102					3.76997e-23	5.26999e-23	1	0	A	141888963	C	A	141888963	2	1	304	1	0	0	0	0	0	0	0	1	13536	581	21	4		4	RNF150	4	141888963	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	578504	141888963	49265313	94	54463											
HHIP	64399	broad.mit.edu	37	chr4	145580832	145580832	+	Missense_Mutation	SNP	G	G	T																															gtattcaggaggttgtgagtGggctgcggcagcccgttggt																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:145580832G>T	ENST00000296575.3	+	4	1328	c.673G>T	c.(673-675)Ggg>Tgg	p.G225W	HHIP_ENST00000434550.2_Missense_Mutation_p.G225W|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	225						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGTTGTGAGTGGGCTGCGGCA	0.463													69	138					6.5469e-37	9.808e-37	1	0	T	145580832	G	T	145580832	3	4	304	1	0	0	0	0	1	0	0	0	7142	1348	47	4	687	4	HHIP	4	145580832	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	3691869	145580832	45573444	95	54464	441	2									
HHIP	64399	broad.mit.edu	37	chr4	145580834	145580834	+	Silent	SNP	G	G	C																															attcaggaggttgtgagtggGctgcggcagcccgttggtgc																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:145580834G>C	ENST00000296575.3	+	4	1330	c.675G>C	c.(673-675)ggG>ggC	p.G225G	HHIP_ENST00000434550.2_Silent_p.G225G|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	225						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTGTGAGTGGGCTGCGGCAGC	0.463													69	136					0	0	0	0	C	145580834	G	C	145580834	2	2	304	1	0	0	0	0	0	0	0	1	7142	1190	42	4		4	HHIP	4	145580834	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	2	145580834	45573442	96	54465	441	2									
KIAA0922	23240	broad.mit.edu	37	chr4	154525454	154525454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaaaacttcagagaacaCagccgagttcaaggaacggg	16	6	10	9	2	2	1	2	0	0	1	2	4	2	2	1	2	4	1	1	2	5	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:154525454C>T	ENST00000409959.3	+	25	3339	c.3290C>T	c.(3289-3291)aCa>aTa	p.T1097I	KIAA0922_ENST00000440693.1_Missense_Mutation_p.T1013I|KIAA0922_ENST00000409663.3_Missense_Mutation_p.T1096I	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1096						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TCAGAGAACACAGCCGAGTTC	0.423													17	56					0	0	0	0	T	154525454	C	T	154525454	3	4	304	1	0	0	0	0	1	0	0	0	8252	478	17	4	3388	4	KIAA0922	4	154525454	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	8944620	154525454	36628822	97	54466											
TLR2	7097	broad.mit.edu	37	chr4	154625775	154625775	+	Frame_Shift_Del	DEL	C	C	-																															tctccatcccatgtgcgtggCcagcaggttcaggatgtccg																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:154625775delC	ENST00000260010.6	+	1	3124	c.1716delC	c.(1714-1716)ggfs	p.G572fs		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	572					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				ATGTGCGTGGCCAGCAGGTTC	0.552													51	118	---	---	---	---					-	154625775	C	-	154625775	7	5	304	1	0	1	0	1	0	0	0	0	16045	726	26	0	1718	0	TLR2	4	154625775	Frame_Shift_Del	DEL	C	TCGA-CV-7409-01A-31D-2229-08	100321	154625775	36528501	98	54467											
DCHS2	54798	broad.mit.edu	37	chr4	155176799	155176799	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcaggccgttcaaaccActgtccaagtcggtagcaaa	13	8	8	12	2	3	0	3	0	0	0	5	0	4	0	3	2	2	3	3	2	5	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:155176799A>G	ENST00000357232.3	-	21	5447	c.5448T>C	c.(5446-5448)agT>agC	p.S1816S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1816	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGTTCAAACCACTGTCCAAGT	0.413													16	29					0	0	0	0	G	155176799	A	G	155176799	2	3	304	1	0	0	0	0	0	0	0	1	4320	156	6	5		5	DCHS2	4	155176799	Silent	SNP	A	TCGA-CV-7409-01A-31D-2229-08	551024	155176799	35977477	99	54468											
GUCY1B3	2983	broad.mit.edu	37	chr4	156726337	156726337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatgaagggcaaaaaagaaCcaatgcaagtttggtttcta	16	9	9	7	0	1	2	0	1	1	1	1	2	1	2	2	2	2	4	2	2	8	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:156726337C>T	ENST00000264424.8	+	13	1874	c.1792C>T	c.(1792-1794)Cca>Tca	p.P598S	GUCY1B3_ENST00000502959.1_Missense_Mutation_p.P620S|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.P530S|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.P578S|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.P565S|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.P573S|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.P530S	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	598					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CAAAAAAGAACCAATGCAAGT	0.388													13	18					0	0	0	0	T	156726337	C	T	156726337	3	4	304	1	0	0	0	0	1	0	0	0	6945	507	18	4	1842	4	GUCY1B3	4	156726337	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1549538	156726337	34427939	100	54469											
CTSO	1519	broad.mit.edu	37	chr4	156858588	156858588	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtaatggcacagaccattTtgtgctttaaaaggatattc	14	13	8	6	0	0	1	0	0	0	1	1	2	0	2	1	2	1	3	1	2	5	7			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:156858588T>C	ENST00000433477.3	-	5	669	c.600A>G	c.(598-600)caA>caG	p.Q200Q		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	200					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		ACAGACCATTTTGTGCTTTAA	0.299													18	21					0	0	0	0	C	156858588	T	C	156858588	2	2	304	1	0	0	0	0	0	0	0	1	4072	1838	64	5		5	CTSO	4	156858588	Silent	SNP	T	TCGA-CV-7409-01A-31D-2229-08	132251	156858588	34295688	101	54470											
ADAM29	11086	broad.mit.edu	37	chr4	175896994	175896994	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctactatcatggttatgtGgaaggggacccagaatccct	10	11	11	9	0	1	1	1	0	0	1	2	3	2	3	2	4	2	2	2	4	5	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:175896994G>T	ENST00000359240.3	+	5	988	c.318G>T	c.(316-318)gtG>gtT	p.V106V	ADAM29_ENST00000445694.1_Silent_p.V106V|ADAM29_ENST00000404450.4_Silent_p.V106V|ADAM29_ENST00000514159.1_Silent_p.V106V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	106					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATGGTTATGTGGAAGGGGACC	0.453													27	39					2.44723e-14	3.08429e-14	1	0	T	175896994	G	T	175896994	2	4	304	1	0	0	0	0	0	0	0	1	247	1335	47	4		4	ADAM29	4	175896994	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	19038406	175896994	15257282	102	54471											
FAT1	2195	broad.mit.edu	37	chr4	187531167	187531167	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attctcaatgataaatacggCccctgaatagaaatcaaaat	18	10	5	8	1	2	3	2	2	1	1	3	3	2	3	2	1	1	0	2	1	9	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:187531167C>G	ENST00000441802.2	-	15	10065	c.9856G>C	c.(9856-9858)Gcc>Ccc	p.A3286P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3286	Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATAAATACGGCCCCTGAATAG	0.413										HNSCC(5;0.00058)			9	17					0	0	0	0	G	187531167	C	G	187531167	3	3	304	1	0	0	0	0	1	0	0	0	5734	739	26	4	3962	4	FAT1	4	187531167	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	11634173	187531167	3623109	103	54472											
KIAA0947	23379	broad.mit.edu	37	chr5	5461973	5461973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcttcttagagaaaataaCaatcctgtagaattcaagac	17	11	6	7	0	3	3	1	0	2	3	4	5	4	3	1	0	1	1	1	0	8	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:5461973C>A	ENST00000296564.7	+	13	2748	c.2526C>A	c.(2524-2526)aaC>aaA	p.N842K		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	842										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGAAAATAACAATCCTGTAG	0.408													38	20					1.36161e-19	1.83864e-19	1	0	A	5461973	C	A	5461973	3	1	304	1	0	0	0	0	1	0	0	0	8253	477	17	4	2576	4	KIAA0947	5	5461973	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08		5461973	175453287	104	54473											
CTNND2	1501	broad.mit.edu	37	chr5	11082914	11082914	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctccacgaggatgggCaggcctttctcttttcggac	7	10	12	12	2	1	0	0	0	1	0	4	3	2	2	2	4	2	3	2	4	0	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:11082914C>A	ENST00000304623.8	-	16	2871	c.2682G>T	c.(2680-2682)ctG>ctT	p.L894L	CTNND2_ENST00000458100.2_Silent_p.L461L|CTNND2_ENST00000511377.1_Silent_p.L803L|CTNND2_ENST00000359640.2_Silent_p.L836L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.L557L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	894				L -> R (in Ref. 1; AAC63103 and 11; AAB96357).	multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CGAGGATGGGCAGGCCTTTCT	0.552													17	66					1.56452e-12	1.93494e-12	1	0	A	11082914	C	A	11082914	2	1	304	1	0	0	0	0	0	0	0	1	4052	697	25	4		4	CTNND2	5	11082914	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	5620941	11082914	169832346	105	54474											
CTNND2	1501	broad.mit.edu	37	chr5	11098693	11098693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaactggccataccttccaGctccctgcagccaagttctg	8	10	8	15	0	1	1	0	1	1	0	3	1	3	1	5	1	5	3	5	1	3	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:11098693G>T	ENST00000304623.8	-	15	2820	c.2631C>A	c.(2629-2631)agC>agA	p.S877R	CTNND2_ENST00000458100.2_Missense_Mutation_p.S444R|CTNND2_ENST00000511377.1_Missense_Mutation_p.S786R|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.S540R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	877					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATACCTTCCAGCTCCCTGCAG	0.468													21	37					1.64113e-05	1.79981e-05	1	0	T	11098693	G	T	11098693	3	4	304	1	0	0	0	0	1	0	0	0	4052	962	34	4	1078	4	CTNND2	5	11098693	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	15779	11098693	169816567	106	54475											
FBXL7	23194	broad.mit.edu	37	chr5	15937219	15937219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtccaggactgcgaggtctCcgtggaggccctgcgctttg	4	10	15	12	3	1	0	0	0	1	0	3	3	2	2	3	4	2	1	3	4	0	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:15937219C>A	ENST00000504595.1	+	4	1881	c.1400C>A	c.(1399-1401)tCc>tAc	p.S467Y	FBXL7_ENST00000510662.1_Missense_Mutation_p.S420Y|FBXL7_ENST00000329673.7_Missense_Mutation_p.S455Y	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	467					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.S467F(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGCGAGGTCTCCGTGGAGGCC	0.607													16	14					4.7546e-09	5.48714e-09	1	0	A	15937219	C	A	15937219	3	1	304	1	0	0	0	0	1	0	0	0	5769	855	30	2	1414	2	FBXL7	5	15937219	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	4838526	15937219	164978041	107	54476											
RXFP3	51289	broad.mit.edu	37	chr5	33937334	33937334	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtgtccatggtgacgtcCatgaacatgtacgccagcgt	9	10	11	11	4	0	2	0	2	0	0	3	2	2	2	3	1	3	1	3	1	2	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:33937334C>A	ENST00000330120.3	+	1	844	c.489C>A	c.(487-489)tcC>tcA	p.S163S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	163						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGGTGACGTCCATGAACATGT	0.582													60	42					2.5401e-28	3.69384e-28	1	0	A	33937334	C	A	33937334	2	1	304	1	0	0	0	0	0	0	0	1	13846	581	21	4		4	RXFP3	5	33937334	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	18000115	33937334	146977926	108	54477											
EGFLAM	133584	broad.mit.edu	37	chr5	38407018	38407018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaacccaaagaccatttCtaggctcatcccccctacct	11	10	3	17	0	3	1	1	0	2	1	4	1	4	1	6	1	2	1	6	1	4	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:38407018C>A	ENST00000322350.5	+	8	1263	c.917C>A	c.(916-918)tCt>tAt	p.S306Y	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Missense_Mutation_p.S306Y|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S72Y	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	306						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AAGACCATTTCTAGGCTCATC	0.483													23	93					9.86323e-18	1.29659e-17	1	0	A	38407018	C	A	38407018	3	1	304	1	0	0	0	0	1	0	0	0	5002	913	32	2	961	2	EGFLAM	5	38407018	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	4469684	38407018	142508242	109	54478											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81614007	81614007	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatcgcctctcctgcccActtctcgcagctgaaagctc	6	11	6	18	2	3	1	1	1	3	0	8	1	3	1	3	0	3	3	3	0	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:81614007A>T	ENST00000380167.4	+	10	1888	c.563A>T	c.(562-564)cAc>cTc	p.H188L	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.H188L			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	188					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TCTCCTGCCCACTTCTCGCAG	0.537													37	12					0	0	0	0	T	81614007	A	T	81614007	3	4	304	1	0	0	0	0	1	0	0	0	1170	159	6	5	577	5	ATP6AP1L	5	81614007	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	43206989	81614007	99301253	110	54479											
GLRX	2745	broad.mit.edu	37	chr5	95158243	95158243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatcgacaaattccagaaGcccttgtttgatgggcaatt	12	12	9	8	1	0	2	0	1	0	1	2	4	1	2	2	1	1	2	2	1	4	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:95158243G>T	ENST00000379979.4	-	1	175	c.124C>A	c.(124-126)Ctt>Att	p.L42I	GLRX_ENST00000505427.1_Missense_Mutation_p.L42I|GLRX_ENST00000237858.6_Missense_Mutation_p.L42I|GLRX_ENST00000512469.2_Missense_Mutation_p.L42I|GLRX_ENST00000508780.1_Missense_Mutation_p.L42I	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	42	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	AATTCCAGAAGCCCTTGTTTG	0.483													60	31					1.95512e-22	2.71393e-22	1	0	T	95158243	G	T	95158243	3	4	304	1	0	0	0	0	1	0	0	0	6510	971	34	4	204	4	GLRX	5	95158243	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	13544236	95158243	85757017	111	54480											
PRR16	51334	broad.mit.edu	37	chr5	120022149	120022151	+	In_Frame_Del	DEL	TGA	TGA	-																															catggctattgtcctgactgTgatacccggtataacataaa																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:120022149_120022151delTGA	ENST00000379551.2	+	3	948_950	c.591_593delTGA	c.(589-594)tgt>tg	p.CD197del	PRR16_ENST00000407149.2_In_Frame_Del_p.CD220del|PRR16_ENST00000505123.1_In_Frame_Del_p.CD150del|PRR16_ENST00000446965.1_In_Frame_Del_p.CD150del	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	220	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GTCCTGACTGTGATACCCGGTAT	0.498													7	51	---	---	---	---					-	120022151	TGA	-	120022149	7	5	304	1	0	1	0	1	0	0	0	0	12669	1702	59	0	597	0	PRR16	5	120022149	In_Frame_Del	DEL	TGA	TCGA-CV-7409-01A-31D-2229-08	24863906	120022149	60893111	112	54481											
ZNF608	57507	broad.mit.edu	37	chr5	124036938	124036943	+	In_Frame_Del	DEL	CTGGCA	CTGGCA	-																															ggaaatcggcggtggtggcgCtggcactgtaaacagggggt																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:124036938_124036943delCTGGCA	ENST00000306315.5	-	2	1361_1366	c.926_931delTGCCAG	c.(925-933)gcg>g	p.VPA309del	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	309						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGTGGTGGCGCTGGCACTGTAAACAG	0.476													36	37	---	---	---	---					-	124036943	CTGGCA	-	124036938	7	5	304	1	0	1	0	1	0	0	0	0	18129	797	28	0	3639	0	ZNF608	5	124036938	In_Frame_Del	DEL	CTGGCA	TCGA-CV-7409-01A-31D-2229-08	4014789	124036938	56878322	113	54482											
MEGF10	84466	broad.mit.edu	37	chr5	126732333	126732333	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactgtgctgcgggcttccgGggctggcgctgcgaggaccg	3	7	18	13	5	0	0	0	0	0	0	1	2	1	1	2	5	3	4	2	5	0	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:126732333G>T	ENST00000274473.6	+	7	789	c.522G>T	c.(520-522)cgG>cgT	p.R174R	MEGF10_ENST00000508365.1_Silent_p.R174R|MEGF10_ENST00000503335.2_Silent_p.R174R|MEGF10_ENST00000418761.2_Silent_p.R174R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	174	EGF-like 2.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CGGGCTTCCGGGGCTGGCGCT	0.642													70	40					1.31726e-23	1.86104e-23	1	0	T	126732333	G	T	126732333	2	4	304	1	0	0	0	0	0	0	0	1	9529	1219	43	4		4	MEGF10	5	126732333	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	2695395	126732333	54182927	114	54483											
CD74	972	broad.mit.edu	37	chr5	149792229	149792229	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcccagcatgggcagttgCtcattgttggagataaggtc	8	10	14	9	1	1	1	1	0	0	1	2	2	1	1	1	4	2	5	1	4	1	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:149792229C>G	ENST00000353334.6	-	1	263	c.84G>C	c.(82-84)gaG>gaC	p.E28D	CD74_ENST00000377795.3_Missense_Mutation_p.E28D|CD74_ENST00000524315.1_Missense_Mutation_p.E28D|CD74_ENST00000009530.7_Missense_Mutation_p.E28D	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	28					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGCAGTTGCTCATTGTTGG	0.622			T	ROS1	NSCLC								148	65					0	0	0	0	G	149792229	C	G	149792229	3	3	304	1	0	0	0	0	1	0	0	0	3064	796	28	4	842	4	CD74	5	149792229	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	23059896	149792229	31123031	115	54484											
ADAM19	8728	broad.mit.edu	37	chr5	156908860	156908860	+	Frame_Shift_Del	DEL	G	G	-																															cagcaccagggggccgcagtGgggatgcacctcctggcctg																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:156908860delG	ENST00000257527.4	-	22	2720	c.2642delC	c.(2641-2643)cafs	p.P881fs	ADAM19_ENST00000517905.1_Frame_Shift_Del_p.P881fs|ADAM19_ENST00000394020.1_Frame_Shift_Del_p.P883fs|ADAM19_ENST00000430702.2_Intron	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	881					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGCCGCAGTGGGGATGCACC	0.682													8	5	---	---	---	---					-	156908860	G	-	156908860	7	5	304	1	0	1	0	1	0	0	0	0	240	1348	47	0	122	0	ADAM19	5	156908860	Frame_Shift_Del	DEL	G	TCGA-CV-7409-01A-31D-2229-08	7116631	156908860	24006400	116	54485											
ADAM19	8728	broad.mit.edu	37	chr5	156920125	156920125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgtcaatgggcaccgcGttggactccaggggccgggc	5	7	18	11	3	1	0	1	0	0	0	2	1	2	1	3	6	0	2	3	6	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:156920125G>T	ENST00000257527.4	-	16	1842	c.1764C>A	c.(1762-1764)aaC>aaA	p.N588K	ADAM19_ENST00000517905.1_Missense_Mutation_p.N588K|ADAM19_ENST00000394020.1_Missense_Mutation_p.N590K|ADAM19_ENST00000430702.2_Missense_Mutation_p.N321K	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	588	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGGCACCGCGTTGGACTCCA	0.597													37	31					4.90274e-10	5.82751e-10	1	0	T	156920125	G	T	156920125	3	4	304	1	0	0	0	0	1	0	0	0	240	1136	40	3	1024	3	ADAM19	5	156920125	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	11265	156920125	23995135	117	54486											
CLINT1	9685	broad.mit.edu	37	chr5	157218892	157218892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccactaacaagttctaccGctggctgtgaggcactgcca	10	8	10	13	1	1	1	0	1	1	0	1	1	1	1	3	2	4	4	3	2	3	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:157218892G>A	ENST00000523094.1	-	10	1350	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	CLINT1_ENST00000411809.2_Missense_Mutation_p.A400V|CLINT1_ENST00000296951.5_Missense_Mutation_p.A382V|CLINT1_ENST00000530742.1_Missense_Mutation_p.A382V|CLINT1_ENST00000523908.1_Missense_Mutation_p.A400V	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	400					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGTTCTACCGCTGGCTGTGA	0.547													36	22					0	0	0	0	A	157218892	G	A	157218892	3	1	304	1	0	0	0	0	1	0	0	0	3561	1087	38	1	690	1	CLINT1	5	157218892	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	298767	157218892	23696368	118	54487											
NSD1	64324	broad.mit.edu	37	chr5	176638857	176638857	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaactcaatggtgtaaatCaagtggtgcctaaaaagcgg	15	9	11	6	1	2	1	2	1	0	0	2	1	2	1	1	3	3	1	1	3	8	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:176638857C>T	ENST00000439151.2	+	5	3502	c.3457C>T	c.(3457-3459)Caa>Taa	p.Q1153*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q1050*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q884*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q884*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1153					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGGTGTAAATCAAGTGGTGCC	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			36	13					0	0	0	0	T	176638857	C	T	176638857	4	4	304	1	0	0	0	0	0	1	0	0	10740	827	29	2	3471	2	NSD1	5	176638857	Nonsense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	19419965	176638857	4276403	119	54488											
RBM24	221662	broad.mit.edu	37	chr6	17292216	17292216	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatatgttactgctgggggcTatggctacgcagtccagcag	8	10	14	9	1	0	0	0	0	0	0	1	1	1	0	1	3	4	6	1	3	4	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:17292216T>C	ENST00000379052.5	+	4	813	c.577T>C	c.(577-579)Tat>Cat	p.Y193H	RBM24_ENST00000425446.2_Missense_Mutation_p.Y135H|RBM24_ENST00000318204.5_Missense_Mutation_p.Y148H|RBM24_ENST00000508508.1_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	193	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			TGCTGGGGGCTATGGCTACGC	0.642													3	29					0	0	0	0	C	17292216	T	C	17292216	3	2	304	1	0	0	0	0	1	0	0	0	13206	1522	53	5	624	5	RBM24	6	17292216	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08		17292216	153822851	120	54489											
HIST1H3A	8350	broad.mit.edu	37	chr6	26020994	26020994	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctccgctgtgatggctCtgcaggaggcgtgcgaggcc	6	7	17	11	3	1	2	0	1	1	1	2	4	2	3	2	4	3	4	2	4	0	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:26020994C>A	ENST00000357647.3	+	1	277	c.277C>A	c.(277-279)Ctg>Atg	p.L93M		NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	93					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGTGATGGCTCTGCAGGAGGC	0.552													28	12					1.77063e-15	2.26755e-15	1	0	A	26020994	C	A	26020994	3	1	304	1	0	0	0	0	1	0	0	0	7205	912	32	2	279	2	HIST1H3A	6	26020994	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	8728778	26020994	145094073	121	54490											
OPN5	221391	broad.mit.edu	37	chr6	47749839	47749839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctgcctcaggacgagCgcctgccccattaccttcga	6	8	9	18	3	1	0	1	0	0	0	2	3	1	1	6	1	5	0	6	1	1	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:47749839C>A	ENST00000489301.2	+	1	122	c.37C>A	c.(37-39)Cgc>Agc	p.R13S	OPN5_ENST00000393699.2_Missense_Mutation_p.R13S|OPN5_ENST00000371211.2_Missense_Mutation_p.R13S			Q6U736	OPN5_HUMAN	opsin 5	13					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TCAGGACGAGCGCCTGCCCCA	0.478													33	25					2.80507e-11	3.40555e-11	1	0	A	47749839	C	A	47749839	3	1	304	1	0	0	0	0	1	0	0	0	10954	768	27	3	39	3	OPN5	6	47749839	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	21728845	47749839	123365228	122	54491											
TFAP2D	83741	broad.mit.edu	37	chr6	50740409	50740409	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgtgcagctctaagcacTttccaaacagttctcagtga	12	12	7	10	0	2	1	1	1	2	0	4	1	3	1	1	0	4	4	1	0	3	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:50740409T>A	ENST00000008391.3	+	8	1419	c.1191T>A	c.(1189-1191)acT>acA	p.T397T		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	397	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CTCTAAGCACTTTCCAAACAG	0.463													4	53					0	0	0	0	A	50740409	T	A	50740409	2	1	304	1	0	0	0	0	0	0	0	1	15884	1596	56	5		5	TFAP2D	6	50740409	Silent	SNP	T	TCGA-CV-7409-01A-31D-2229-08	2990570	50740409	120374658	123	54492											
TFAP2D	83741	broad.mit.edu	37	chr6	50740422	50740422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcactttccaaacagttCtcagtgaaatgctgaactac	14	11	6	10	0	1	2	1	2	1	0	3	2	2	2	1	0	5	3	1	0	5	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:50740422C>A	ENST00000008391.3	+	8	1432	c.1204C>A	c.(1204-1206)Ctc>Atc	p.L402I		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	402	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCAAACAGTTCTCAGTGAAAT	0.473													5	52					8.12818e-05	8.79261e-05	1	0	A	50740422	C	A	50740422	3	1	304	1	0	0	0	0	1	0	0	0	15884	913	32	2	1234	2	TFAP2D	6	50740422	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	13	50740422	120374645	124	54493											
RIMS1	22999	broad.mit.edu	37	chr6	72970465	72970465	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgcagaatgcctacatacTaccaggtaaatacagggatt	15	9	9	8	0	0	1	0	0	0	1	0	2	0	2	2	2	6	2	2	2	7	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:72970465T>C	ENST00000264839.7	+	19	3111	c.3111T>C	c.(3109-3111)acT>acC	p.T1037T	RIMS1_ENST00000521978.1_Silent_p.T1037T|RIMS1_ENST00000520567.1_Silent_p.T1036T|RIMS1_ENST00000518273.1_Silent_p.T1037T|RIMS1_ENST00000517960.1_Silent_p.T1036T|RIMS1_ENST00000517827.1_Silent_p.T496T|RIMS1_ENST00000538414.1_Silent_p.T16T|RIMS1_ENST00000523963.1_Silent_p.T511T|RIMS1_ENST00000401910.3_Silent_p.T510T|RIMS1_ENST00000491071.2_Silent_p.T1037T|RIMS1_ENST00000348717.5_Silent_p.T1036T|RIMS1_ENST00000425662.2_Silent_p.T430T|RIMS1_ENST00000522291.1_Intron			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1037					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)				GCCTACATACTACCAGGTAAA	0.433													18	9					0	0	0	0	C	72970465	T	C	72970465	2	2	304	1	0	0	0	0	0	0	0	1	13452	1509	53	5		5	RIMS1	6	72970465	Silent	SNP	T	TCGA-CV-7409-01A-31D-2229-08	22230043	72970465	98144602	125	54494											
MANEA	79694	broad.mit.edu	37	chr6	96054237	96054237	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtctgaaaaatacagtaagGaaagagcaacttatgcatta	18	9	9	5	0	1	2	0	1	1	1	1	3	1	3	0	2	4	3	0	2	8	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:96054237G>C	ENST00000358812.4	+	5	1479	c.1345G>C	c.(1345-1347)Gaa>Caa	p.E449Q		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	449	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ATACAGTAAGGAAAGAGCAAC	0.353													18	20					0	0	0	0	C	96054237	G	C	96054237	3	2	304	1	0	0	0	0	1	0	0	0	9290	1175	41	2	1359	2	MANEA	6	96054237	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	23083772	96054237	75060830	126	54495											
RSPO3	84870	broad.mit.edu	37	chr6	127471623	127471623	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaatttctgcacaaaatgTaaaagtggattttacttaca	18	13	5	5	0	1	0	0	0	1	0	1	1	1	1	0	1	3	2	0	1	8	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:127471623T>A	ENST00000356698.4	+	3	931	c.342T>A	c.(340-342)tgT>tgA	p.C114*	RSPO3_ENST00000368317.3_Nonsense_Mutation_p.C114*|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	114						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GCACAAAATGTAAAAGTGGAT	0.373													36	21					0	0	0	0	A	127471623	T	A	127471623	4	1	304	1	0	0	0	0	0	1	0	0	13796	1644	57	5	352	5	RSPO3	6	127471623	Nonsense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	31417386	127471623	43643444	127	54496											
SYNE1	23345	broad.mit.edu	37	chr6	152539539	152539539	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataatcaagaactccagcCtttttttccacaaaagaaat	16	12	3	10	0	2	2	2	0	0	2	4	2	4	2	3	0	2	0	3	0	6	4	rs35128811		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:152539539C>A	ENST00000367255.5	-	121	22646		c.e121-1		SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAACTCCAGCCTTTTTTTCCA	0.343										HNSCC(10;0.0054)			124	64					1.67525e-54	2.59794e-54	1	0	A	152539539	C	A	152539539	5	1	304	1	0	0	0	0	0	0	1	0	15536	695	24	4	4526	4	SYNE1	6	152539539	Splice_Site	SNP	C	TCGA-CV-7409-01A-31D-2229-08	25067916	152539539	18575528	128	54497											
CREB5	9586	broad.mit.edu	37	chr7	28547350	28547350	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggaagaggagagcagcAagcgggtaggtttgcttgga	11	7	17	6	1	1	2	1	0	0	2	1	5	1	4	0	5	4	5	0	5	3	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:28547350A>T	ENST00000357727.2	+	4	676	c.286A>T	c.(286-288)Aag>Tag	p.K96*	CREB5_ENST00000396299.2_Nonsense_Mutation_p.K63*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.K63*|CREB5_ENST00000396300.2_Nonsense_Mutation_p.K89*	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	96					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GGAGAGCAGCAAGCGGGTAGG	0.562													42	107					0	0	0	0	T	28547350	A	T	28547350	4	4	304	1	0	0	0	0	0	1	0	0	3890	131	5	5	300	5	CREB5	7	28547350	Nonsense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08		28547350	130591313	129	54498											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31123764	31123764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgctgcagacatgggaGtggtgagccggaactgcacg	8	10	15	8	2	0	2	0	1	0	1	0	4	0	4	1	3	5	3	1	3	1	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:31123764G>T	ENST00000304166.4	+	7	626	c.337G>T	c.(337-339)Gtg>Ttg	p.V113L	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V92L|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V113L|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V113L	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	113					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						AGACATGGGAGTGGTGAGCCG	0.478													16	77					4.7546e-09	5.48714e-09	1	0	T	31123764	G	T	31123764	3	4	304	1	0	0	0	0	1	0	0	0	303	1029	36	4	359	4	ADCYAP1R1	7	31123764	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	2576414	31123764	128014899	130	54499											
CCDC129	223075	broad.mit.edu	37	chr7	31682745	31682745	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggcctgagggagctggCaaagtgcaaagccaccacaa	13	4	14	10	0	0	2	0	2	0	0	0	3	0	3	3	3	3	3	3	3	3	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:31682745C>A	ENST00000319386.3	+	11	2310	c.1317C>A	c.(1315-1317)ggC>ggA	p.G439G	CCDC129_ENST00000451887.2_Silent_p.G613G|CCDC129_ENST00000407970.3_Silent_p.G587G|CCDC129_ENST00000409210.1_Silent_p.G495G			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	587										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGGGAGCTGGCAAAGTGCAAA	0.498													88	166					3.99893e-49	6.17733e-49	1	0	A	31682745	C	A	31682745	2	1	304	1	0	0	0	0	0	0	0	1	2789	697	25	4		4	CCDC129	7	31682745	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	558981	31682745	127455918	131	54500											
FKBP9	11328	broad.mit.edu	37	chr7	33044785	33044785	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtccccttcttttccAgttctcagagtacattcacg	6	16	5	14	1	3	1	2	0	2	1	7	1	6	1	4	0	1	2	4	0	1	7			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:33044785A>T	ENST00000242209.4	+	10	1705		c.e10-1		FKBP9_ENST00000538443.1_Splice_Site|FKBP9_ENST00000538336.1_Splice_Site|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Splice_Site	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa						protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTTCTTTTCCAGTTCTCAGAG	0.542													4	90					0	0	0	0	T	33044785	A	T	33044785	5	4	304	1	0	0	0	0	0	0	1	0	5960	202	7	5	1573	5	FKBP9	7	33044785	Splice_Site	SNP	A	TCGA-CV-7409-01A-31D-2229-08	1362040	33044785	126093878	132	54501											
ZNF479	90827	broad.mit.edu	37	chr7	57194381	57194381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatccaggcattgccattcCtccagagagaattctatagc	12	10	7	12	0	1	2	0	0	1	2	4	3	4	2	4	1	2	1	4	1	4	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:57194381C>A	ENST00000331162.4	-	3	354	c.84G>T	c.(82-84)gaG>gaT	p.E28D		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATTGCCATTCCTCCAGAGAGA	0.438													44	78					1.61004e-24	2.2828e-24	1	0	A	57194381	C	A	57194381	3	1	304	1	0	0	0	0	1	0	0	0	18028	680	24	4	1502	4	ZNF479	7	57194381	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	24149596	57194381	101944282	133	54502											
AUTS2	26053	broad.mit.edu	37	chr7	70227908	70227908	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgacagccaggatgcaggGccgattgtccccaagatatc	11	7	11	12	1	0	2	0	1	0	1	2	4	1	3	4	2	2	1	4	2	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:70227908G>T	ENST00000342771.4	+	7	1116	c.795G>T	c.(793-795)ggG>ggT	p.G265G	AUTS2_ENST00000406775.2_Silent_p.G265G	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	265										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGGATGCAGGGCCGATTGTCC	0.527													51	213					1.39843e-22	1.94799e-22	1	0	T	70227908	G	T	70227908	2	4	304	1	0	0	0	0	0	0	0	1	1229	1190	42	4		4	AUTS2	7	70227908	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	13033527	70227908	88910755	134	54503											
SEMA3D	223117	broad.mit.edu	37	chr7	84649548	84649548	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcactctggactgagtcttaCcttgaatatctgcaactcct	9	13	7	12	0	3	2	0	2	3	0	4	3	4	3	2	1	3	2	2	1	4	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:84649548C>A	ENST00000284136.6	-	12	1547		c.e12+1		SEMA3D_ENST00000484038.1_Splice_Site	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTGAGTCTTACCTTGAATATC	0.413													16	22					6.72482e-11	8.1395e-11	1	0	A	84649548	C	A	84649548	5	1	304	1	0	0	0	0	0	0	1	0	14114	521	18	4	853	4	SEMA3D	7	84649548	Splice_Site	SNP	C	TCGA-CV-7409-01A-31D-2229-08	14421640	84649548	74489115	135	54504											
AKAP9	10142	broad.mit.edu	37	chr7	91630492	91630492	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgaaactgatatagtacaaCgaatggaacaagaaacacaa	21	6	7	7	2	0	2	0	1	0	1	1	5	0	3	0	1	5	1	0	1	10	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:91630492C>A	ENST00000359028.2	+	9	1522	c.1297C>A	c.(1297-1299)Cga>Aga	p.R433R	AKAP9_ENST00000356239.3_Silent_p.R421R|AKAP9_ENST00000358100.2_Silent_p.R433R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	433	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATAGTACAACGAATGGAACA	0.383			T	BRAF	papillary thyroid								47	106					3.76525e-18	4.96612e-18	1	0	A	91630492	C	A	91630492	2	1	304	1	0	0	0	0	0	0	0	1	459	528	19	3		3	AKAP9	7	91630492	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	6980944	91630492	67508171	136	54505											
TECPR1	25851	broad.mit.edu	37	chr7	97874006	97874006	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatggcgtacgtccacccCtgaaacaccaaggaaggggc	11	5	12	13	3	0	1	0	1	0	0	2	3	1	2	4	4	2	1	4	4	4	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:97874006C>G	ENST00000447648.2	-	5	708		c.e5-1		TECPR1_ENST00000379795.3_Splice_Site|TECPR1_ENST00000542604.1_Splice_Site			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1							integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGTCCACCCCTGAAACACCA	0.587													51	65					0	0	0	0	G	97874006	C	G	97874006	5	3	304	1	0	0	0	0	0	0	1	0	15837	695	24	4	3177	4	TECPR1	7	97874006	Splice_Site	SNP	C	TCGA-CV-7409-01A-31D-2229-08	6243514	97874006	61264657	137	54506											
MCM7	4176	broad.mit.edu	37	chr7	99697268	99697268	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcagcaaagagcttcgCgtagcgcctggcattctcac	9	8	11	13	3	2	1	2	0	1	1	4	1	2	1	1	2	3	5	1	2	2	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:99697268C>G	ENST00000303887.5	-	3	865	c.220G>C	c.(220-222)Gcg>Ccg	p.A74P	MCM7_ENST00000343023.6_Missense_Mutation_p.A74P|MCM7_ENST00000354230.3_5'UTR	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	74					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	AAGAGCTTCGCGTAGCGCCTG	0.547													32	95					0	0	0	0	G	99697268	C	G	99697268	3	3	304	1	0	0	0	0	1	0	0	0	9461	768	27	3	1991	3	MCM7	7	99697268	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1823262	99697268	59441395	138	54507											
STAG3	10734	broad.mit.edu	37	chr7	99802959	99802959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctgtggagaacacagcaGagaccagccctcaggtcctc	10	5	11	15	0	1	2	1	0	0	2	3	4	2	2	4	2	3	1	4	2	1	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:99802959G>A	ENST00000426455.1	+	29	3597	c.3190G>A	c.(3190-3192)Gag>Aag	p.E1064K	STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.E1006K|GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.E1064K			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1064					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAACACAGCAGAGACCAGCCC	0.632													31	26					0	0	0	0	A	99802959	G	A	99802959	3	1	304	1	0	0	0	0	1	0	0	0	15334	943	33	2	3300	2	STAG3	7	99802959	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	105691	99802959	59335704	139	54508											
KCND2	3751	broad.mit.edu	37	chr7	119915462	119915462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtcgttaccgttttgtgcGtagtgtcatgagtatcatcg	7	16	11	7	4	2	1	2	1	0	0	4	1	2	1	1	0	2	4	1	0	4	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:119915462G>A	ENST00000331113.4	+	1	1741	c.776G>A	c.(775-777)cGt>cAt	p.R259H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	259					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CGTTTTGTGCGTAGTGTCATG	0.532													14	40					0	0	0	0	A	119915462	G	A	119915462	3	1	304	1	0	0	0	0	1	0	0	0	8072	1145	40	1	778	1	KCND2	7	119915462	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	20112503	119915462	39223201	140	54509											
PLXNA4	91584	broad.mit.edu	37	chr7	131848901	131848901	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagatgggtgggctcacCagggttttgtagtcaatctg	10	11	13	7	0	3	1	2	0	1	1	3	1	3	1	1	3	1	3	1	3	3	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:131848901C>A	ENST00000359827.3	-	24	5462	c.4500_splice	c.e24+1	p.L1500_splice	PLXNA4_ENST00000321063.4_Splice_Site_p.L1500_splice			Q9HCM2	PLXA4_HUMAN	plexin A4	1500						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTGGGCTCACCAGGGTTTTGT	0.602													7	25					0.000157383	0.000168868	1	0	A	131848901	C	A	131848901	5	1	304	1	0	0	0	0	0	0	1	0	12194	608	21	4	1220	4	PLXNA4	7	131848901	Splice_Site	SNP	C	TCGA-CV-7409-01A-31D-2229-08	11933439	131848901	27289762	141	54510											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138764847	138764847	+	Silent	SNP	G	G	A																															tcctccagggaagccctgtgGctgatctgatctggactagg																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:138764847G>A	ENST00000242351.5	-	4	1156	c.840C>T	c.(838-840)agC>agT	p.S280S	ZC3HAV1_ENST00000464606.1_Silent_p.S280S|ZC3HAV1_ENST00000471652.1_Silent_p.S280S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	280					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AAGCCCTGTGGCTGATCTGAT	0.587													29	127					0	0	0	0	A	138764847	G	A	138764847	2	1	304	1	0	0	0	0	0	0	0	1	17670	1194	42	4		4	ZC3HAV1	7	138764847	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	6915946	138764847	20373816	142	54511	442	2									
ZC3HAV1	56829	broad.mit.edu	37	chr7	138764848	138764848	+	Missense_Mutation	SNP	C	C	A																															cctccagggaagccctgtggCtgatctgatctggactaggt																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:138764848C>A	ENST00000242351.5	-	4	1155	c.839G>T	c.(838-840)aGc>aTc	p.S280I	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S280I|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S280I	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	280					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AGCCCTGTGGCTGATCTGATC	0.587													28	129					1.5548e-18	2.0644e-18	1	0	A	138764848	C	A	138764848	3	1	304	1	0	0	0	0	1	0	0	0	17670	797	28	4	1913	4	ZC3HAV1	7	138764848	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1	138764848	20373815	143	54512	442	2									
PRSS1	5644	broad.mit.edu	37	chr7	142459789	142459789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcagtaatcaacgcccGcgtgtccaccatctctctgc	8	9	8	16	4	3	0	1	0	2	0	5	0	4	0	3	0	3	2	3	0	2	1	rs111033565		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:142459789G>T	ENST00000486171.1	+	4	424	c.407G>T	c.(406-408)cGc>cTc	p.R136L	PRSS1_ENST00000311737.7_Missense_Mutation_p.R122L			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	122	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATCAACGCCCGCGTGTCCACC	0.577													37	90					1.04352e-10	1.2592e-10	1	0	T	142459789	G	T	142459789	3	4	304	1	0	0	0	0	1	0	0	0	12693	1087	38	3	375	3	PRSS1	7	142459789	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	3694941	142459789	16678874	144	54513											
OR2A12	346525	broad.mit.edu	37	chr7	143792215	143792215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaacatggaaagcaatcaGacctggatcacagaagtcat	17	6	10	8	0	3	3	3	0	0	3	3	6	3	5	1	2	2	1	1	2	4	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:143792215G>C	ENST00000408949.2	+	1	75	c.15G>C	c.(13-15)caG>caC	p.Q5H		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAAGCAATCAGACCTGGATCA	0.398													17	18					0	0	0	0	C	143792215	G	C	143792215	3	2	304	1	0	0	0	0	1	0	0	0	11046	933	33	2	17	2	OR2A12	7	143792215	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	1332426	143792215	15346448	145	54514											
CNTNAP2	26047	broad.mit.edu	37	chr7	147815227	147815227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggaattattggaatgccGcctctttcccaaacccatcc	10	10	7	14	1	1	0	0	0	1	0	3	2	3	2	5	2	2	0	5	2	4	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:147815227G>T	ENST00000361727.3	+	16	2917	c.2401G>T	c.(2401-2403)Gcc>Tcc	p.A801S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	801	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTGGAATGCCGCCTCTTTCCC	0.443										HNSCC(39;0.1)			49	48					2.47907e-22	3.42923e-22	1	0	T	147815227	G	T	147815227	3	4	304	1	0	0	0	0	1	0	0	0	3677	1087	38	3	2463	3	CNTNAP2	7	147815227	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	4023012	147815227	11323436	146	54515											
REPIN1	29803	broad.mit.edu	37	chr7	150069096	150069096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacttgatcgctcaccgcCgcgtgcacacgggcgagcgg	7	5	13	16	7	1	1	1	1	0	0	2	2	1	1	3	2	3	2	3	2	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:150069096C>T	ENST00000397281.2	+	4	1255	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000540729.1_Missense_Mutation_p.R256C|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Missense_Mutation_p.R313C|REPIN1_ENST00000425389.2_Missense_Mutation_p.R256C|REPIN1_ENST00000444957.1_Missense_Mutation_p.R256C	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	256					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGCTCACCGCCGCGTGCACAC	0.682													8	30					0	0	0	0	T	150069096	C	T	150069096	3	4	304	1	0	0	0	0	1	0	0	0	13309	652	23	1	943	1	REPIN1	7	150069096	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	2253869	150069096	9069567	147	54516											
GIMAP7	168537	broad.mit.edu	37	chr7	150217216	150217216	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactgtcaaaaagcatccCgggaatggcaggggagagac	15	4	14	8	1	1	2	1	0	0	2	2	5	2	4	1	4	2	2	1	4	4	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:150217216C>G	ENST00000313543.4	+	2	311	c.154C>G	c.(154-156)Cgg>Ggg	p.R52G		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	52							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAAGCATCCCGGGAATGGCA	0.502													7	26					0	0	0	0	G	150217216	C	G	150217216	3	3	304	1	0	0	0	0	1	0	0	0	6435	643	23	3	156	3	GIMAP7	7	150217216	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	148120	150217216	8921447	148	54517											
DPP6	1804	broad.mit.edu	37	chr7	154263980	154263980	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagatagagagtatgcactTttttcatacaatgtggaacc	13	12	8	8	0	1	2	1	0	0	2	1	4	1	3	2	1	3	2	2	1	5	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:154263980T>G	ENST00000404039.1	+	5	1001	c.414T>G	c.(412-414)ctT>ctG	p.L138L	DPP6_ENST00000427557.1_Silent_p.L140L|DPP6_ENST00000406326.1_Silent_p.L202L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Silent_p.L140L|DPP6_ENST00000377770.3_Silent_p.L202L	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	202					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGTATGCACTTTTTTCATACA	0.289													9	23					0	0	0	0	G	154263980	T	G	154263980	2	3	304	1	0	0	0	0	0	0	0	1	4766	1828	64	5		5	DPP6	7	154263980	Silent	SNP	T	TCGA-CV-7409-01A-31D-2229-08	4046764	154263980	4874683	149	54518											
DPP6	1804	broad.mit.edu	37	chr7	154681021	154681021	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtctccgcgctggaagaaCagcagttcctgatcattcat	10	10	10	11	2	3	2	2	1	1	1	5	4	4	3	2	1	2	3	2	1	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:154681021C>A	ENST00000404039.1	+	24	2739	c.2152C>A	c.(2152-2154)Cag>Aag	p.Q718K	DPP6_ENST00000427557.1_Missense_Mutation_p.Q675K|DPP6_ENST00000332007.3_Missense_Mutation_p.Q720K|DPP6_ENST00000377770.3_Missense_Mutation_p.Q782K	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	782					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCTGGAAGAACAGCAGTTCCT	0.547													6	19					0.217242	0.217242	1	0	A	154681021	C	A	154681021	3	1	304	1	0	0	0	0	1	0	0	0	4766	479	17	4	2554	4	DPP6	7	154681021	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	417041	154681021	4457642	150	54519											
CSMD1	64478	broad.mit.edu	37	chr8	3087636	3087636	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgattttggcttgtcctTggagctgatagccagggtca	7	13	14	7	0	1	2	1	2	0	0	2	3	2	3	2	4	2	2	2	4	1	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:3087636T>A	ENST00000602557.1	-	28	4829	c.4274A>T	c.(4273-4275)cAa>cTa	p.Q1425L	CSMD1_ENST00000602723.1_Missense_Mutation_p.Q1425L|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q1424L|CSMD1_ENST00000520002.1_Missense_Mutation_p.Q1425L|CSMD1_ENST00000539096.1_Missense_Mutation_p.Q1424L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q1425L|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q1424L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1425	Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCTTGTCCTTGGAGCTGATA	0.498													13	31					0	0	0	0	A	3087636	T	A	3087636	3	1	304	1	0	0	0	0	1	0	0	0	3976	1812	63	5	6599	5	CSMD1	8	3087636	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08		3087636	143276386	151	54520											
RP1L1	94137	broad.mit.edu	37	chr8	10467869	10467869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttggttttccagatcccctgGgctctcataagttcttgaat	7	16	8	10	0	2	2	1	1	2	1	5	2	4	2	3	2	0	3	3	2	2	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:10467869G>A	ENST00000382483.3	-	4	3962	c.3739C>T	c.(3739-3741)Cca>Tca	p.P1247S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1247					intracellular signal transduction					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)		AGATCCCCTGGGCTCTCATAA	0.552													17	31					0	0	0	0	A	10467869	G	A	10467869	3	1	304	1	0	0	0	0	1	0	0	0	13618	1232	43	4	3467	4	RP1L1	8	10467869	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	7380233	10467869	135896153	152	54521											
HR	55806	broad.mit.edu	37	chr8	21986565	21986565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctctcccaggcacagcGgcccatggtgcagtccatct	7	7	11	16	1	2	0	0	0	2	0	4	0	3	0	3	4	2	3	3	4	0	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:21986565G>A	ENST00000381418.4	-	2	1599	c.119C>T	c.(118-120)cCg>cTg	p.P40L	HR_ENST00000312841.8_Missense_Mutation_p.P40L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	40							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CAGGCACAGCGGCCCATGGTG	0.672													17	50					0	0	0	0	A	21986565	G	A	21986565	3	1	304	1	0	0	0	0	1	0	0	0	7397	1116	39	1	3522	1	HR	8	21986565	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	11518696	21986565	124377457	153	54522											
ADAM28	10863	broad.mit.edu	37	chr8	24167434	24167434	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaaactgaattaaagtatAaaatgacaattaatggaaaa	22	11	6	2	0	0	3	0	3	0	0	0	4	0	4	0	1	1	1	0	1	11	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:24167434A>T	ENST00000265769.4	+	3	288	c.178A>T	c.(178-180)Aaa>Taa	p.K60*	ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Nonsense_Mutation_p.K60*|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	60					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATTAAAGTATAAAATGACAAT	0.274													9	27					0	0	0	0	T	24167434	A	T	24167434	4	4	304	1	0	0	0	0	0	1	0	0	246	363	13	5	188	5	ADAM28	8	24167434	Nonsense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	2180869	24167434	122196588	154	54523											
DPYSL2	1808	broad.mit.edu	37	chr8	26509930	26509930	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttccctgattttgtttacaAgcgtatcaaggcaaggagca	11	12	9	9	1	1	1	1	1	0	0	2	2	2	2	1	2	3	4	1	2	5	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:26509930A>T	ENST00000311151.5	+	12	1851	c.1439A>T	c.(1438-1440)aAg>aTg	p.K480M	DPYSL2_ENST00000521913.1_Missense_Mutation_p.K444M|DPYSL2_ENST00000523027.1_Missense_Mutation_p.K444M	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	480					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TTTGTTTACAAGCGTATCAAG	0.463													14	49					0	0	0	0	T	26509930	A	T	26509930	3	4	304	1	0	0	0	0	1	0	0	0	4783	72	3	5	1485	5	DPYSL2	8	26509930	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	2342496	26509930	119854092	155	54524											
KCNU1	157855	broad.mit.edu	37	chr8	36793341	36793341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaaacagtattatatcatCtcagatacctttaggtgaca	16	12	5	8	0	2	2	2	1	1	1	3	2	2	2	1	1	3	1	1	1	7	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:36793341C>T	ENST00000399881.3	+	27	3390	c.3353C>T	c.(3352-3354)tCt>tTt	p.S1118F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1118						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATTATATCATCTCAGATACCT	0.378													20	53					0	0	0	0	T	36793341	C	T	36793341	3	4	304	1	0	0	0	0	1	0	0	0	8146	913	32	2	3459	2	KCNU1	8	36793341	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	10283411	36793341	109570681	156	54525											
ADAM18	8749	broad.mit.edu	37	chr8	39525676	39525676	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctataacggacaatgtCaaactactgataaccagtgt	15	11	7	8	1	1	1	1	1	0	0	1	2	1	2	1	1	5	1	1	1	6	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:39525676C>A	ENST00000265707.5	+	14	1531	c.1486C>A	c.(1486-1488)Caa>Aaa	p.Q496K	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.Q472K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	496	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CGGACAATGTCAAACTACTGA	0.383													26	89					5.77227e-19	7.74186e-19	1	0	A	39525676	C	A	39525676	3	1	304	1	0	0	0	0	1	0	0	0	239	827	29	2	1540	2	ADAM18	8	39525676	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	2732335	39525676	106838346	157	54526											
CSPP1	79848	broad.mit.edu	37	chr8	68018208	68018208	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttttgcagggatgctctTtggtaggcacaaaacttcca	9	13	9	10	0	1	0	0	0	1	0	3	1	3	1	2	3	3	4	2	3	3	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:68018208T>G	ENST00000262210.5	+	8	1149	c.1118T>G	c.(1117-1119)tTt>tGt	p.F373C	CSPP1_ENST00000412460.1_Missense_Mutation_p.F79C	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	408						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GGGATGCTCTTTGGTAGGCAC	0.343													6	45					0	0	0	0	G	68018208	T	G	68018208	3	3	304	1	0	0	0	0	1	0	0	0	3994	1841	64	5	1261	5	CSPP1	8	68018208	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	28492532	68018208	78345814	158	54527											
KCNB2	9312	broad.mit.edu	37	chr8	73480110	73480110	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggggggcctcaaccacgaAgtcctgtggagaacgctgga	9	6	16	10	2	1	1	1	0	0	1	2	4	2	2	3	5	2	1	3	5	3	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:73480110A>C	ENST00000523207.1	+	2	729	c.141A>C	c.(139-141)gaA>gaC	p.E47D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	47					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCAACCACGAAGTCCTGTGGA	0.567													27	177					0	0	0	0	C	73480110	A	C	73480110	3	2	304	1	0	0	0	0	1	0	0	0	8066	69	3	5	143	5	KCNB2	8	73480110	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	5461902	73480110	72883912	159	54528											
ZFHX4	79776	broad.mit.edu	37	chr8	77618657	77618657	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgattatgaaaccaatgtCgccaggaacctccgaattca	13	10	8	10	2	1	2	1	2	0	0	3	4	2	3	4	1	2	0	4	1	5	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:77618657C>A	ENST00000521891.2	+	2	2782	c.2334C>A	c.(2332-2334)gtC>gtA	p.V778V	ZFHX4_ENST00000455469.2_Silent_p.V778V|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.V778V|ZFHX4_ENST00000050961.6_Silent_p.V778V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	778						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAACCAATGTCGCCAGGAACC	0.498										HNSCC(33;0.089)			11	45					0.000978159	0.00102733	1	0	A	77618657	C	A	77618657	2	1	304	1	0	0	0	0	0	0	0	1	17730	871	31	3		3	ZFHX4	8	77618657	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	4138547	77618657	68745365	160	54529											
ZFHX4	79776	broad.mit.edu	37	chr8	77764404	77764405	+	Frame_Shift_Ins	INS	-	-	T																															tacctgggacggagttcagcINSttggggccagatttgggctt																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:77764404_77764405insT	ENST00000521891.2	+	10	5695_5696	c.5247_5248insT	c.(5245-5250)agtgggfs	p.G1750fs	ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.G1705fs|ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.G1705fs|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.G1724fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1705	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGGAGTTCAGCTTGGGGCCAGA	0.51										HNSCC(33;0.089)			39	40	---	---	---	---					T	77764405	-	T	77764404	7	5	304	1	0	1	1	0	0	0	0	0	17730	796	28	0	5281	0	ZFHX4	8	77764404	Frame_Shift_Ins	INS	-	TCGA-CV-7409-01A-31D-2229-08	145747	77764404	68599618	161	54530											
MMP16	4325	broad.mit.edu	37	chr8	89053869	89053869	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgatgacaatgtctacAtcatctggtgggctgtgtcc	8	14	11	8	0	3	2	1	2	2	0	4	2	4	2	1	2	1	2	1	2	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:89053869A>G	ENST00000286614.6	-	10	1925	c.1644T>C	c.(1642-1644)gaT>gaC	p.D548D		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	548					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CAATGTCTACATCATCTGGTG	0.453													7	121					0	0	0	0	G	89053869	A	G	89053869	2	3	304	1	0	0	0	0	0	0	0	1	9724	214	8	5		5	MMP16	8	89053869	Silent	SNP	A	TCGA-CV-7409-01A-31D-2229-08	11289465	89053869	57310153	162	54531											
MMP16	4325	broad.mit.edu	37	chr8	89130936	89130936	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagtaacctaccatatatCttctggatgccctgtaaatc	12	13	6	10	0	2	0	0	0	2	0	3	1	2	1	3	1	3	3	3	1	7	7			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:89130936C>A	ENST00000286614.6	-	5	1145	c.864G>T	c.(862-864)aaG>aaT	p.K288N	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	288					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TACCATATATCTTCTGGATGC	0.383													22	110					1.1804e-14	1.49241e-14	1	0	A	89130936	C	A	89130936	3	1	304	1	0	0	0	0	1	0	0	0	9724	912	32	2	1139	2	MMP16	8	89130936	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	77067	89130936	57233086	163	54532											
RNF19A	25897	broad.mit.edu	37	chr8	101300161	101300161	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccgccatttagctcccttGatttacgtttgttatctttt	5	19	5	12	2	1	1	0	1	1	0	2	1	2	1	4	0	2	3	4	0	3	9			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:101300161G>C	ENST00000519449.1	-	3	558	c.242C>G	c.(241-243)tCa>tGa	p.S81*	RNF19A_ENST00000341084.2_Nonsense_Mutation_p.S81*	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	81					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TAGCTCCCTTGATTTACGTTT	0.388													116	64					0	0	0	0	C	101300161	G	C	101300161	4	2	304	1	0	0	0	0	0	1	0	0	13555	1294	45	2	2310	2	RNF19A	8	101300161	Nonsense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	12169225	101300161	45063861	164	54533											
RIMS2	9699	broad.mit.edu	37	chr8	105010427	105010427	+	Frame_Shift_Del	DEL	T	T	-																															ttgcagtcattttcttactcTacctcgctccagatacagtc																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:105010427delT	ENST00000507740.1	+	15	2671	c.2435delT	c.(2434-2436)cafs	p.L812fs	RIMS2_ENST00000436393.2_Frame_Shift_Del_p.L798fs|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1076	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTTCTTACTCTACCTCGCTCC	0.353										HNSCC(12;0.0054)			22	124	---	---	---	---					-	105010427	T	-	105010427	7	5	304	1	0	1	0	1	0	0	0	0	13453	1522	53	0	3255	0	RIMS2	8	105010427	Frame_Shift_Del	DEL	T	TCGA-CV-7409-01A-31D-2229-08	3710266	105010427	41353595	165	54534											
ANGPT1	284	broad.mit.edu	37	chr8	108334194	108334194	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagttgctgcttctgaagGacactgttgttggtggtagc	6	14	13	8	0	1	1	0	1	1	0	2	2	2	2	1	3	3	6	1	3	2	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:108334194G>T	ENST00000520734.1	-	3	423	c.138C>A	c.(136-138)gtC>gtA	p.V46V	ANGPT1_ENST00000520052.1_Silent_p.V46V|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	246					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GCTTCTGAAGGACACTGTTGT	0.428													80	47					2.35497e-27	3.39972e-27	1	0	T	108334194	G	T	108334194	2	4	304	1	0	0	0	0	0	0	0	1	610	1161	41	2		2	ANGPT1	8	108334194	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	3323767	108334194	38029828	166	54535											
CSMD3	114788	broad.mit.edu	37	chr8	113246666	113246666	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggtactttaataagataTatgcgtaacattaggcgagc	14	11	10	6	2	0	1	0	0	0	1	0	2	0	1	0	2	4	3	0	2	7	8			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:113246666T>C	ENST00000297405.5	-	68	10912	c.10668A>G	c.(10666-10668)atA>atG	p.I3556M	CSMD3_ENST00000455883.2_Missense_Mutation_p.I3387M|CSMD3_ENST00000343508.3_Missense_Mutation_p.I3516M|CSMD3_ENST00000352409.3_Missense_Mutation_p.I3486M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3556						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAATAAGATATATGCGTAACA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			157	71					0	0	0	0	C	113246666	T	C	113246666	3	2	304	1	0	0	0	0	1	0	0	0	3978	1396	49	5	471	5	CSMD3	8	113246666	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	4912472	113246666	33117356	167	54536											
PTK2	5747	broad.mit.edu	37	chr8	141669598	141669598	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcccaagcattttcagTcttgcttggtcaatgacatc	8	14	8	11	0	4	1	2	1	2	0	5	1	4	1	1	1	3	2	1	1	2	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:141669598T>C	ENST00000522684.1	-	32	3355	c.3126A>G	c.(3124-3126)agA>agG	p.R1042R	PTK2_ENST00000535192.1_Silent_p.R996R|PTK2_ENST00000517712.1_Silent_p.R105R|PTK2_ENST00000521059.1_Silent_p.R1042R|PTK2_ENST00000519419.1_Silent_p.R1086R|PTK2_ENST00000517887.1_Silent_p.R1086R|PTK2_ENST00000519465.1_Silent_p.R670R|PTK2_ENST00000395218.2_Silent_p.R1055R|PTK2_ENST00000430260.2_Silent_p.R352R|PTK2_ENST00000340930.3_Silent_p.R1055R|PTK2_ENST00000538769.1_Silent_p.R710R	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	1042	Interaction with RGNEF (By similarity).|Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GCATTTTCAGTCTTGCTTGGT	0.517													4	46					0	0	0	0	C	141669598	T	C	141669598	2	2	304	1	0	0	0	0	0	0	0	1	12842	1664	58	5		5	PTK2	8	141669598	Silent	SNP	T	TCGA-CV-7409-01A-31D-2229-08	28422932	141669598	4694424	168	54537											
PLEC	5339	broad.mit.edu	37	chr8	144995795	144995795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcctgaggccgcctgcgCctccagcaggatgagggccg	7	4	16	14	3	0	2	0	2	0	0	1	4	1	3	6	3	3	1	6	3	1	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:144995795C>A	ENST00000322810.4	-	32	8774	c.8605G>T	c.(8605-8607)Gcg>Tcg	p.A2869S	PLEC_ENST00000354958.2_Missense_Mutation_p.A2710S|PLEC_ENST00000356346.3_Missense_Mutation_p.A2718S|PLEC_ENST00000436759.2_Missense_Mutation_p.A2759S|PLEC_ENST00000357649.2_Missense_Mutation_p.A2736S|PLEC_ENST00000345136.3_Missense_Mutation_p.A2732S|PLEC_ENST00000398774.2_Missense_Mutation_p.A2700S|PLEC_ENST00000527096.1_Missense_Mutation_p.A2755S|PLEC_ENST00000354589.3_Missense_Mutation_p.A2732S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2869	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCGCCTGCGCCTCCAGCAGG	0.672													50	74					5.73435e-26	8.21854e-26	1	0	A	144995795	C	A	144995795	3	1	304	1	0	0	0	0	1	0	0	0	12124	739	26	4	5453	4	PLEC	8	144995795	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	3326197	144995795	1368227	169	54538											
SPATC1	375686	broad.mit.edu	37	chr8	145095915	145095915	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagtcaatgactctcgaggtCcacgcaccacagaaccgtcg	11	6	9	15	4	2	2	1	1	1	1	5	3	3	2	3	1	1	1	3	1	2	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:145095915C>G	ENST00000377470.3	+	3	1315	c.1213C>G	c.(1213-1215)Cca>Gca	p.P405A	SPATC1_ENST00000447830.2_Missense_Mutation_p.P405A	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	405										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCTCGAGGTCCACGCACCAC	0.622													15	136					0	0	0	0	G	145095915	C	G	145095915	3	3	304	1	0	0	0	0	1	0	0	0	15107	855	30	2	1223	2	SPATC1	8	145095915	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	100120	145095915	1268107	170	54539											
IFNA4	3441	broad.mit.edu	37	chr9	21187529	21187529	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagaaaaggacagggccAttgggatgttgcaaatattg	15	9	13	4	0	0	1	0	0	0	1	0	3	0	3	1	3	1	3	1	3	6	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:21187529A>G	ENST00000421715.1	-	1	69	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	1					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGACAGGGCCATTGGGATGTT	0.473													41	13					0	0	0	0	G	21187529	A	G	21187529	1	3	304	1	0	0	0	0	0	0	0	0	7592	217	8	5		5	IFNA4	9	21187529	Translation_Start_Site	SNP	A	TCGA-CV-7409-01A-31D-2229-08		21187529	120025902	171	54540											
MTAP	4507	broad.mit.edu	37	chr9	21854825	21854825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatttgttacgcaagtatcGccatggcgacagattatgac	12	11	10	8	3	0	2	0	1	0	1	1	4	0	2	1	1	1	3	1	1	5	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:21854825G>A	ENST00000380172.4	+	6	852	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000460874.2_Missense_Mutation_p.A233T|MTAP_ENST00000580900.1_Missense_Mutation_p.A216T	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	216					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	CGCAAGTATCGCCATGGCGAC	0.498													20	47					0	0	0	0	A	21854825	G	A	21854825	3	1	304	1	0	0	0	0	1	0	0	0	9981	1087	38	1	668	1	MTAP	9	21854825	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	667296	21854825	119358606	172	54541											
PAX5	5079	broad.mit.edu	37	chr9	37015109	37015109	+	Frame_Shift_Del	DEL	T	T	-																															ttggcgtttatattcagcgaTtttttccaccactttgggtg																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:37015109delT	ENST00000358127.4	-	3	369	c.295delA	c.(295-297)tcfs	p.I99fs	PAX5_ENST00000414447.1_Frame_Shift_Del_p.I99fs|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000520154.1_Frame_Shift_Del_p.I99fs|PAX5_ENST00000523241.1_Frame_Shift_Del_p.I99fs|PAX5_ENST00000377852.2_Frame_Shift_Del_p.I99fs|PAX5_ENST00000377853.2_Frame_Shift_Del_p.I99fs|PAX5_ENST00000377847.2_Frame_Shift_Del_p.I99fs|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000520281.1_Frame_Shift_Del_p.I99fs	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	99	Paired.			I -> F (in Ref. 3; AAC35286).	cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TATTCAGCGATTTTTTCCACC	0.512			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								306	219	---	---	---	---					-	37015109	T	-	37015109	7	5	304	1	0	1	0	1	0	0	0	0	11553	1493	52	0	912	0	PAX5	9	37015109	Frame_Shift_Del	DEL	T	TCGA-CV-7409-01A-31D-2229-08	15160284	37015109	104198322	173	54542											
FOXD4L5	653427	broad.mit.edu	37	chr9	70177822	70177822	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcagccccggctggagTgactgctctaggaactgctg	7	8	13	13	1	1	1	0	1	1	0	1	3	1	3	3	3	5	4	3	3	2	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:70177822T>C	ENST00000377420.1	-	1	993	c.162A>G	c.(160-162)tcA>tcG	p.S54S		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	54					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						CCGGCTGGAGTGACTGCTCTA	0.642													4	65					0	0	0	0	C	70177822	T	C	70177822	2	2	304	1	0	0	0	0	0	0	0	1	6049	1683	59	5		5	FOXD4L5	9	70177822	Silent	SNP	T	TCGA-CV-7409-01A-31D-2229-08	33162713	70177822	71035609	174	54543											
PCSK5	5125	broad.mit.edu	37	chr9	78710973	78710973	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaagagtgttcatccacGctggccacaacctacagcag	11	7	10	13	1	1	1	1	0	0	1	2	2	2	2	3	2	3	3	3	2	3	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:78710973G>T	ENST00000545128.1	+	8	1600	c.1062G>T	c.(1060-1062)acG>acT	p.T354T	PCSK5_ENST00000376752.4_Silent_p.T354T|PCSK5_ENST00000376767.3_Silent_p.T354T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	354	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTTCATCCACGCTGGCCACAA	0.478													55	38					4.17328e-34	6.20522e-34	1	0	T	78710973	G	T	78710973	2	4	304	1	0	0	0	0	0	0	0	1	11674	1074	38	3		3	PCSK5	9	78710973	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	8533151	78710973	62502458	175	54544											
PRUNE2	158471	broad.mit.edu	37	chr9	79320143	79320143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acatcatattcaaaatcaccCcacgaggcttcagatgagca	15	8	6	12	1	4	2	4	1	0	1	4	3	4	2	2	1	1	2	2	1	3	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:79320143C>A	ENST00000428286.1	-	8	7170	c.5970G>T	c.(5968-5970)tgG>tgT	p.W1990C	PRUNE2_ENST00000376718.3_Missense_Mutation_p.W2349C			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2349					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAAAATCACCCCACGAGGCTT	0.468													100	119					1.74666e-38	2.63659e-38	1	0	A	79320143	C	A	79320143	3	1	304	1	0	0	0	0	1	0	0	0	12720	624	22	4	2267	4	PRUNE2	9	79320143	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	609170	79320143	61893288	176	54545											
PRUNE2	158471	broad.mit.edu	37	chr9	79324702	79324702	+	Frame_Shift_Del	DEL	C	C	-																															catggcccactcattcgggtCcctaacagaaggtgtcttgc																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:79324702delC	ENST00000428286.1	-	8	2611	c.1411delG	c.(1411-1413)acfs	p.D471fs	PRUNE2_ENST00000376718.3_Frame_Shift_Del_p.D830fs			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	830					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCATTCGGGTCCCTAACAGAA	0.443													27	27	---	---	---	---					-	79324702	C	-	79324702	7	5	304	1	0	1	0	1	0	0	0	0	12720	855	30	0	6826	0	PRUNE2	9	79324702	Frame_Shift_Del	DEL	C	TCGA-CV-7409-01A-31D-2229-08	4559	79324702	61888729	177	54546											
OR13C4	138804	broad.mit.edu	37	chr9	107289110	107289110	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggggtatctcagagggttAcagatggccacataacgatc	12	9	12	8	1	1	2	1	0	1	2	3	3	1	2	1	4	2	2	1	4	3	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:107289110A>G	ENST00000277216.3	-	1	380	c.381T>C	c.(379-381)tgT>tgC	p.C127C		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCAGAGGGTTACAGATGGCCA	0.448													8	218					0	0	0	0	G	107289110	A	G	107289110	2	3	304	1	0	0	0	0	0	0	0	1	11007	389	14	5		5	OR13C4	9	107289110	Silent	SNP	A	TCGA-CV-7409-01A-31D-2229-08	27964408	107289110	33924321	178	54547											
OR13C3	138803	broad.mit.edu	37	chr9	107298663	107298663	+	Silent	SNP	A	A	G																															tcaaatgccatcatgccaagAagcagacattctgttgaccc																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:107298663A>G	ENST00000374781.2	-	1	474	c.432T>C	c.(430-432)ctT>ctC	p.L144L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	144					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						TCATGCCAAGAAGCAGACATT	0.453													14	335					0	0	0	0	G	107298663	A	G	107298663	2	3	304	1	0	0	0	0	0	0	0	1	11006	233	9	5		5	OR13C3	9	107298663	Silent	SNP	A	TCGA-CV-7409-01A-31D-2229-08	9553	107298663	33914768	179	54548	443	2									
OR13C3	138803	broad.mit.edu	37	chr9	107298666	107298666	+	Silent	SNP	C	C	G																															aatgccatcatgccaagaagCagacattctgttgaccccat																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:107298666C>G	ENST00000374781.2	-	1	471	c.429G>C	c.(427-429)ctG>ctC	p.L143L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	143					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						TGCCAAGAAGCAGACATTCTG	0.453													12	336					0	0	0	0	G	107298666	C	G	107298666	2	3	304	1	0	0	0	0	0	0	0	1	11006	697	25	4		4	OR13C3	9	107298666	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	3	107298666	33914765	180	54549	443	2									
OR13C2	392376	broad.mit.edu	37	chr9	107367223	107367223	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttctcccctcggaagagCtaattttgaagatgctcaca	10	12	8	11	1	2	3	1	1	1	2	4	4	2	4	2	1	3	3	2	1	3	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:107367223C>A	ENST00000542196.1	-	1	728	c.686G>T	c.(685-687)aGc>aTc	p.S229I		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CTCGGAAGAGCTAATTTTGAA	0.418													85	189					1.88935e-48	2.90726e-48	1	0	A	107367223	C	A	107367223	3	1	304	1	0	0	0	0	1	0	0	0	11005	797	28	4	273	4	OR13C2	9	107367223	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	68557	107367223	33846208	181	54550											
SVEP1	79987	broad.mit.edu	37	chr9	113228230	113228230	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccgggaaccaaatttTggctgataagtgcccagtgg	10	9	12	10	1	0	1	0	1	0	0	1	2	1	2	3	3	3	2	3	3	3	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:113228230T>A	ENST00000401783.2	-	18	3573	c.3237A>T	c.(3235-3237)ccA>ccT	p.P1079P	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.P1079P|SVEP1_ENST00000374469.1_Silent_p.P1056P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1079					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AACCAAATTTTGGCTGATAAG	0.448													10	31					0	0	0	0	A	113228230	T	A	113228230	2	1	304	1	0	0	0	0	0	0	0	1	15510	1799	63	5		5	SVEP1	9	113228230	Silent	SNP	T	TCGA-CV-7409-01A-31D-2229-08	5861007	113228230	27985201	182	54551											
DAB2IP	153090	broad.mit.edu	37	chr9	124528979	124528979	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccctcaccctcatcgccaAggtcacccagaacctggcca	10	5	6	20	1	3	1	3	0	0	1	4	1	3	1	6	2	1	0	6	2	2	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:124528979A>C	ENST00000408936.3	+	9	1849	c.1667A>C	c.(1666-1668)aAg>aCg	p.K556T	DAB2IP_ENST00000259371.2_Missense_Mutation_p.K528T|DAB2IP_ENST00000309989.1_Missense_Mutation_p.K432T			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	556	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTCATCGCCAAGGTCACCCAG	0.637													117	124					0	0	0	0	C	124528979	A	C	124528979	3	2	304	1	0	0	0	0	1	0	0	0	4252	72	3	5	1617	5	DAB2IP	9	124528979	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	11300749	124528979	16684452	183	54552											
TSC1	7248	broad.mit.edu	37	chr9	135778029	135778047	+	Frame_Shift_Del	DEL	TCATGCTGCAGCTGTCTGA	TCATGCTGCAGCTGTCTGA	-																															ggttgtagaattcctctcggTcatgctgcagctgtctgatc																								rs118203681		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:135778029_135778047delTCATGCTGCAGCTGTCTGA	ENST00000298552.3	-	18	2557_2575	c.2336_2354delTCAGACAGCTGCAGCATGA	c.(2335-2355)acfs	p.IRQLQHD779fs	TSC1_ENST00000440111.2_Frame_Shift_Del_p.IRQLQHD779fs|TSC1_ENST00000545250.1_Frame_Shift_Del_p.IRQLQHD728fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	779					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTG	0.521			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	130	---	---	---	---					-	135778047	TCATGCTGCAGCTGTCTGA	-	135778029	7	5	304	1	0	1	0	1	0	0	0	0	16700	1667	58	0	1164	0	TSC1	9	135778029	Frame_Shift_Del	DEL	TCATGCTGCAGCTGTCTGA	TCGA-CV-7409-01A-31D-2229-08	11249050	135778029	5435402	184	54553											
PFKP	5214	broad.mit.edu	37	chr10	3146081	3146081	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaccatcggcacggacTccgccctgcacaggatcatc	10	6	9	16	3	1	1	1	1	0	0	4	3	2	3	3	3	1	2	3	3	0	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:3146081T>C	ENST00000381075.2	+	7	765	c.541T>C	c.(541-543)Tcc>Ccc	p.S181P	PFKP_ENST00000381125.4_Missense_Mutation_p.S189P	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	189					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CGGCACGGACTCCGCCCTGCA	0.632													11	55					0	0	0	0	C	3146081	T	C	3146081	3	2	304	1	0	0	0	0	1	0	0	0	11838	1551	54	5	583	5	PFKP	10	3146081	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08		3146081	132388666	185	54554											
SLC39A12	221074	broad.mit.edu	37	chr10	18250514	18250514	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttttcttccacagtgctTtgaaccagatgcactattac	9	16	6	10	0	1	2	0	1	1	1	2	2	2	2	2	0	4	3	2	0	3	7			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:18250514T>A	ENST00000377369.2	+	3	539	c.266T>A	c.(265-267)tTt>tAt	p.F89Y	SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.F89Y|SLC39A12_ENST00000377374.4_Missense_Mutation_p.F89Y	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	89					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCACAGTGCTTTGAACCAGAT	0.368													8	41					0	0	0	0	A	18250514	T	A	18250514	3	1	304	1	0	0	0	0	1	0	0	0	14703	1841	64	5	272	5	SLC39A12	10	18250514	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	15104433	18250514	117284233	186	54555											
CACNB2	783	broad.mit.edu	37	chr10	18827231	18827231	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtagcctccccaaccctctCcttagccgtacattagccac	9	9	5	18	1	1	0	0	0	1	0	3	0	2	0	7	0	5	2	7	0	5	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:18827231C>G	ENST00000396576.2	+	12	1761	c.1260C>G	c.(1258-1260)ctC>ctG	p.L420L	CACNB2_ENST00000377319.3_Silent_p.L382L|CACNB2_ENST00000377331.2_Silent_p.L423L|CACNB2_ENST00000377329.4_Silent_p.L421L|CACNB2_ENST00000282343.8_Silent_p.L447L|CACNB2_ENST00000377328.1_Silent_p.L225L|CACNB2_ENST00000324631.7_Silent_p.L475L|CACNB2_ENST00000377315.4_Silent_p.L427L|CACNB2_ENST00000352115.6_Silent_p.L451L|RP11-499P20.2_ENST00000425669.1_RNA	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	475					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAACCCTCTCCTTAGCCGTA	0.502													70	204					0	0	0	0	G	18827231	C	G	18827231	2	3	304	1	0	0	0	0	0	0	0	1	2578	842	30	2		2	CACNB2	10	18827231	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	576717	18827231	116707516	187	54556											
ARMC4	55130	broad.mit.edu	37	chr10	28101547	28101547	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggacccaaccatatccAgtagaagctgtcacacataa	15	6	8	12	0	1	1	1	0	0	1	2	2	2	2	3	2	2	2	3	2	5	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:28101547A>T	ENST00000305242.5	-	20	3121	c.3029T>A	c.(3028-3030)cTg>cAg	p.L1010Q	ARMC4_ENST00000537576.1_Intron|ARMC4_ENST00000545014.1_Missense_Mutation_p.W576R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	1010							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AACCATATCCAGTAGAAGCTG	0.423													14	27					0	0	0	0	T	28101547	A	T	28101547	3	4	304	1	0	0	0	0	1	0	0	0	957	188	7	5	109	5	ARMC4	10	28101547	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	9274316	28101547	107433200	188	54557											
SLC18A3	6572	broad.mit.edu	37	chr10	50820008	50820008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcccacgctcgccttcCtggtggacgtgcgccatgtc	3	10	12	16	4	0	0	0	0	0	0	3	1	1	1	4	2	3	2	4	2	0	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:50820008C>A	ENST00000374115.3	+	1	1662	c.1222C>A	c.(1222-1224)Ctg>Atg	p.L408M	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	408					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCTCGCCTTCCTGGTGGACGT	0.642													6	28					0.00307968	0.00317567	1	0	A	50820008	C	A	50820008	3	1	304	1	0	0	0	0	1	0	0	0	14515	680	24	4	1224	4	SLC18A3	10	50820008	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	22718461	50820008	84714739	189	54558											
PRKG1	5592	broad.mit.edu	37	chr10	53227588	53227588	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caactgtacccggacagcgaCcgtcaagagtaagactattt	13	8	9	11	3	1	2	1	0	0	2	1	4	1	3	2	1	3	2	2	1	5	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:53227588C>A	ENST00000373980.4	+	3	1001	c.584C>A	c.(583-585)aCc>aAc	p.T195N	PRKG1_ENST00000401604.2_Missense_Mutation_p.T180N|PRKG1_ENST00000373985.1_Missense_Mutation_p.T168N	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	180					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CGGACAGCGACCGTCAAGAGT	0.363													10	22					1.76689e-08	2.01568e-08	1	0	A	53227588	C	A	53227588	3	1	304	1	0	0	0	0	1	0	0	0	12602	507	18	4	864	4	PRKG1	10	53227588	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	2407580	53227588	82307159	190	54559											
LRRTM3	347731	broad.mit.edu	37	chr10	68687344	68687344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaagctcaacctggccCtttttccaaggttggtcagc	7	13	8	13	0	2	0	2	0	0	0	4	0	4	0	4	3	3	2	4	3	3	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:68687344C>T	ENST00000361320.4	+	2	1248	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	224						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAACCTGGCCCTTTTTCCAAG	0.463													48	58					0	0	0	0	T	68687344	C	T	68687344	3	4	304	1	0	0	0	0	1	0	0	0	9105	681	24	4	676	4	LRRTM3	10	68687344	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	15459756	68687344	66847403	191	54560											
ZNF518A	9849	broad.mit.edu	37	chr10	97916239	97916239	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtgaaaattgatttgccaAaaataaatattccaaatgaa	20	12	5	4	0	0	3	0	3	0	0	1	3	1	3	2	0	1	0	2	0	9	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:97916239A>C	ENST00000534948.1	+	0	1017							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TGATTTGCCAAAAATAAATAT	0.294													26	29					0	0	0	0	C	97916239	A	C	97916239	1	2	304	0	1	0	0	0	0	0	0	0	18057	15	1	5		5	ZNF518A	10	97916239	RNA	SNP	A	TCGA-CV-7409-01A-31D-2229-08	29228895	97916239	37618508	192	54561											
ZDHHC16	84287	broad.mit.edu	37	chr10	99213336	99213336	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaccatcggtacttcttctcTttctgctttttcatgactct	6	19	4	12	1	5	1	1	1	4	0	7	1	5	1	1	1	3	2	1	1	2	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:99213336T>C	ENST00000393760.1	+	7	955	c.606T>C	c.(604-606)tcT>tcC	p.S202S	ZDHHC16_ENST00000370842.2_Silent_p.S202S|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000370854.3_Silent_p.S202S|ZDHHC16_ENST00000352634.4_Silent_p.S202S|ZDHHC16_ENST00000345745.5_Silent_p.S137S|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000353979.3_Intron	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	202					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		ACTTCTTCTCTTTCTGCTTTT	0.468													91	83					0	0	0	0	C	99213336	T	C	99213336	2	2	304	1	0	0	0	0	0	0	0	1	17701	1596	56	5		5	ZDHHC16	10	99213336	Silent	SNP	T	TCGA-CV-7409-01A-31D-2229-08	1297097	99213336	36321411	193	54562											
SORCS1	114815	broad.mit.edu	37	chr10	108357186	108357186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactgagttttggttgagcGtgtggatcagcaattctgat	8	15	13	5	1	2	3	1	3	1	0	2	4	2	4	0	2	3	4	0	2	2	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:108357186G>T	ENST00000263054.6	-	24	3195	c.3188C>A	c.(3187-3189)aCg>aAg	p.T1063K	SORCS1_ENST00000369698.1_Missense_Mutation_p.T598K|SORCS1_ENST00000344440.6_Missense_Mutation_p.T1063K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1063						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTGGTTGAGCGTGTGGATCAG	0.428													9	47					0.00448238	0.00461012	1	0	T	108357186	G	T	108357186	3	4	304	1	0	0	0	0	1	0	0	0	15018	1145	40	3	564	3	SORCS1	10	108357186	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	9143850	108357186	27177561	194	54563											
GFRA1	2674	broad.mit.edu	37	chr10	117849305	117849305	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatttcattctcagaccCtgctggccccaggggcttgt	6	11	12	12	0	2	1	2	0	1	1	3	2	2	2	3	4	1	2	3	4	1	3	rs77098230		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:117849305C>A	ENST00000439649.3	-	8	1496	c.1129G>T	c.(1129-1131)Ggg>Tgg	p.G377W	GFRA1_ENST00000369236.1_Missense_Mutation_p.G377W|GFRA1_ENST00000544592.1_Missense_Mutation_p.G261W|GFRA1_ENST00000355422.6_Missense_Mutation_p.G382W	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	382					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TTCTCAGACCCTGCTGGCCCC	0.577													25	35					3.6726e-16	4.74926e-16	1	0	A	117849305	C	A	117849305	3	1	304	1	0	0	0	0	1	0	0	0	6398	681	24	4	265	4	GFRA1	10	117849305	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	9492119	117849305	17685442	195	54564											
DMBT1	1755	broad.mit.edu	37	chr10	124351938	124351938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcaggcagctgggctGtggctgggccacgtcggccc	3	7	18	13	2	1	0	0	0	1	0	2	0	1	0	2	6	2	5	2	6	0	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:124351938G>A	ENST00000338354.3	+	20	2433	c.2327G>A	c.(2326-2328)tGt>tAt	p.C776Y	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.C766Y|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.C776Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.C766Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	776	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAGCTGGGCTGTGGCTGGGCC	0.617													61	488					0	0	0	0	A	124351938	G	A	124351938	3	1	304	1	0	0	0	0	1	0	0	0	4614	1377	48	4	2405	4	DMBT1	10	124351938	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	6502633	124351938	11182809	196	54565											
CPXM2	119587	broad.mit.edu	37	chr10	125539756	125539756	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatctcgttccggcggtgaTaataattattaggatctagg	10	14	10	7	3	3	1	1	1	2	0	5	2	4	2	1	4	0	1	1	4	5	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:125539756T>C	ENST00000241305.3	-	7	1059	c.905A>G	c.(904-906)tAt>tGt	p.Y302C	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	302					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCGGCGGTGATAATAATTATT	0.453													49	50					0	0	0	0	C	125539756	T	C	125539756	3	2	304	1	0	0	0	0	1	0	0	0	3868	1406	49	5	1397	5	CPXM2	10	125539756	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	1187818	125539756	9994991	197	54566											
MUC5B	727897	broad.mit.edu	37	chr11	1268755	1268755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacacccagcaagaccCgcacctcgaccctgctgccc	9	3	7	22	2	0	1	0	0	0	1	1	2	0	1	6	0	4	3	6	0	1	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:1268755C>A	ENST00000447027.1	+	31	10712	c.10654C>A	c.(10654-10656)Cgc>Agc	p.R3552S	MUC5B_ENST00000529681.1_Missense_Mutation_p.R3549S|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3549	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCAAGACCCGCACCTCGAC	0.687													68	118					1.76847e-28	2.58119e-28	1	0	A	1268755	C	A	1268755	3	1	304	1	0	0	0	0	1	0	0	0	10049	652	23	3	10776	3	MUC5B	11	1268755	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08		1268755	133737761	198	54567											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651162	1651162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctccggctgtggaggctGtggctctggctgtgggggct	1	11	20	9	1	1	0	0	0	1	0	2	1	2	1	1	8	0	6	1	8	0	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:1651162G>T	ENST00000399676.2	+	1	130	c.92G>T	c.(91-93)tGt>tTt	p.C31F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	31				C -> R (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		tgtggaggctgtggctctggc	0.716													6	200					0.00621372	0.00630907	1	0	T	1651162	G	T	1651162	3	4	304	1	0	0	0	0	1	0	0	0	8617	1377	48	4	94	4	KRTAP5-5	11	1651162	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	382407	1651162	133355354	199	54568											
OR52A5	390054	broad.mit.edu	37	chr11	5153280	5153280	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaataggccatatatcttgTtgactcggatatcttcagta	12	14	7	8	1	3	1	1	1	2	0	4	2	3	2	1	2	0	2	1	2	6	8			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:5153280T>C	ENST00000307388.1	-	1	592	c.593A>G	c.(592-594)aAc>aGc	p.N198S		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATATATCTTGTTGACTCGGAT	0.398													68	84					0	0	0	0	C	5153280	T	C	5153280	3	2	304	1	0	0	0	0	1	0	0	0	11181	1725	60	5	360	5	OR52A5	11	5153280	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	3502118	5153280	129853236	200	54569											
OR52A1	23538	broad.mit.edu	37	chr11	5173436	5173436	+	Missense_Mutation	SNP	C	C	G																															acaagggctcatggagactgCgctcagatttgatgatgctc																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:5173436C>G	ENST00000380367.1	-	2	581	c.164G>C	c.(163-165)cGc>cCc	p.R55P	OR52A1_ENST00000328942.1_Missense_Mutation_p.R55P			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	55					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGAGACTGCGCTCAGATTT	0.443													14	36					0	0	0	0	G	5173436	C	G	5173436	3	3	304	1	0	0	0	0	1	0	0	0	11179	768	27	3	776	3	OR52A1	11	5173436	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	20156	5173436	129833080	201	54570	444	2									
OR52A1	23538	broad.mit.edu	37	chr11	5173437	5173437	+	Missense_Mutation	SNP	G	G	A																															caagggctcatggagactgcGctcagatttgatgatgctca																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:5173437G>A	ENST00000380367.1	-	2	580	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R55C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	55					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAGACTGCGCTCAGATTTG	0.443													15	38					0	0	0	0	A	5173437	G	A	5173437	3	1	304	1	0	0	0	0	1	0	0	0	11179	1087	38	1	777	1	OR52A1	11	5173437	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	1	5173437	129833079	202	54571	444	2									
NLRP14	338323	broad.mit.edu	37	chr11	7064949	7064949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagttacttcagtgtatGgaagtattaggaaacagtga	15	12	10	4	0	2	1	2	1	0	0	2	3	2	3	0	2	2	3	0	2	7	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:7064949G>T	ENST00000299481.4	+	4	2038	c.1692G>T	c.(1690-1692)atG>atT	p.M564I		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	564					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTCAGTGTATGGAAGTATTAG	0.368													32	49					2.2171e-23	3.11021e-23	1	0	T	7064949	G	T	7064949	3	4	304	1	0	0	0	0	1	0	0	0	10546	1348	47	4	1702	4	NLRP14	11	7064949	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	1891512	7064949	127941567	203	54572											
SLC17A6	57084	broad.mit.edu	37	chr11	22396327	22396327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctatctgctgtgccacaCttagtaatgacaattattgt	11	15	7	8	0	1	1	0	1	1	0	1	1	1	1	1	0	3	3	1	0	5	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:22396327C>A	ENST00000263160.3	+	9	1505	c.1068C>A	c.(1066-1068)caC>caA	p.H356Q		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	356					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTGTGCCACACTTAGTAATGA	0.363													59	155					1.19403e-26	1.71751e-26	1	0	A	22396327	C	A	22396327	3	1	304	1	0	0	0	0	1	0	0	0	14509	564	20	4	1102	4	SLC17A6	11	22396327	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	15331378	22396327	112610189	204	54573											
ELP4	26610	broad.mit.edu	37	chr11	31531491	31531491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtccattgcgggcacgcgaCcgtcggtgcggaatggacag	7	7	16	11	6	0	0	0	0	0	0	2	3	1	2	2	4	2	1	2	4	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:31531491C>T	ENST00000395934.2	+	1	167	c.160C>T	c.(160-162)Ccg>Tcg	p.P54S	ELP4_ENST00000350638.5_Missense_Mutation_p.P54S|ELP4_ENST00000379163.5_Missense_Mutation_p.P54S			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	54					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GGGCACGCGACCGTCGGTGCG	0.637													20	88					0	0	0	0	T	31531491	C	T	31531491	3	4	304	1	0	0	0	0	1	0	0	0	5120	507	18	4	162	4	ELP4	11	31531491	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	9135164	31531491	103475025	205	54574											
LRRC4C	57689	broad.mit.edu	37	chr11	40137050	40137050	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactagtgactgaaggtTgtcaaaggcattccgttcaa	11	11	9	10	1	2	2	2	2	0	0	4	2	4	2	2	2	0	3	2	2	4	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:40137050T>G	ENST00000278198.2	-	2	2756	c.793A>C	c.(793-795)Aac>Cac	p.N265H	LRRC4C_ENST00000530763.1_Missense_Mutation_p.N265H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N265H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N265H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	265					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GACTGAAGGTTGTCAAAGGCA	0.453													58	117					0	0	0	0	G	40137050	T	G	40137050	3	3	304	1	0	0	0	0	1	0	0	0	9072	1812	63	5	1133	5	LRRC4C	11	40137050	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	8605559	40137050	94869466	206	54575											
SLC39A13	91252	broad.mit.edu	37	chr11	47431680	47431680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctggctgtggcatggCgggcccaaggctcctcttcc	3	9	13	16	1	1	0	0	0	1	0	3	0	3	0	4	5	1	3	4	5	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:47431680C>T	ENST00000524928.1	+	1	45	c.35C>T	c.(34-36)gCg>gTg	p.A12V	SLC39A13_ENST00000354884.4_Missense_Mutation_p.A12V|SLC39A13_ENST00000362021.4_Missense_Mutation_p.A12V|SLC39A13_ENST00000533076.1_Missense_Mutation_p.A12V|SLC39A13_ENST00000531974.1_Missense_Mutation_p.A12V			Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	12					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		TGTGGCATGGCGGGCCCAAGG	0.642													4	201					0	0	0	0	T	47431680	C	T	47431680	3	4	304	1	0	0	0	0	1	0	0	0	14704	768	27	1	37	1	SLC39A13	11	47431680	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	7294630	47431680	87574836	207	54576											
OR5D16	390144	broad.mit.edu	37	chr11	55606284	55606284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattcactctcttgggcttCtcagattacctggaactgca	9	13	7	12	0	3	1	2	0	2	1	5	2	3	2	1	2	3	2	1	2	2	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:55606284C>T	ENST00000378396.1	+	1	57	c.57C>T	c.(55-57)ttC>ttT	p.F19F		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCTTGGGCTTCTCAGATTACC	0.413													42	62					0	0	0	0	T	55606284	C	T	55606284	2	4	304	1	0	0	0	0	0	0	0	1	11227	912	32	2		2	OR5D16	11	55606284	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	8174604	55606284	79400232	208	54577											
OR5W2	390148	broad.mit.edu	37	chr11	55682057	55682057	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcaattttcccagtccAttcttccttgttcttgtttc	6	18	6	11	0	2	0	0	0	2	0	6	1	5	1	3	1	1	3	3	1	1	8			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:55682057A>T	ENST00000344514.1	-	1	1	c.0_splice	c.e1-1	p.M1_splice		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTCCCAGTCCATTCTTCCTTG	0.343													17	15					0	0	0	0	T	55682057	A	T	55682057	5	4	304	1	0	0	0	0	0	0	1	0	11256	231	8	5	932	5	OR5W2	11	55682057	Splice_Site	SNP	A	TCGA-CV-7409-01A-31D-2229-08	75773	55682057	79324459	209	54578											
OR5AS1	219447	broad.mit.edu	37	chr11	55798050	55798050	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataattctagttaatattaaTtcaagccttcaaattcccat	15	16	2	8	0	3	0	2	0	1	0	4	0	4	0	2	0	1	1	2	0	7	9			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:55798050T>C	ENST00000313555.1	+	1	156	c.156T>C	c.(154-156)aaT>aaC	p.N52N		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TTAATATTAATTCAAGCCTTC	0.328													19	21					0	0	0	0	C	55798050	T	C	55798050	2	2	304	1	0	0	0	0	0	0	0	1	11217	1490	52	5		5	OR5AS1	11	55798050	Silent	SNP	T	TCGA-CV-7409-01A-31D-2229-08	115993	55798050	79208466	210	54579											
OR8H2	390151	broad.mit.edu	37	chr11	55872764	55872765	+	Frame_Shift_Ins	INS	-	-	T																															ctgtcgtcacacctaaaaccINSttagcgaacttactgacttc																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:55872764_55872765insT	ENST00000313503.1	+	1	246_247	c.246_247insT	c.(244-249)actagcfs	p.S83fs		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CACCTAAAACCTTAGCGAACTT	0.436										HNSCC(53;0.14)			93	305	---	---	---	---					T	55872765	-	T	55872764	7	5	304	1	0	1	1	0	0	0	0	0	11309	668	24	0	248	0	OR8H2	11	55872764	Frame_Shift_Ins	INS	-	TCGA-CV-7409-01A-31D-2229-08	74714	55872764	79133752	211	54580											
OR5R1	219479	broad.mit.edu	37	chr11	56185101	56185101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagatcatatcaaagccaGcaaaggcaaatatcagaatt	20	7	7	7	0	3	2	3	0	0	2	3	3	3	2	1	1	2	2	1	1	7	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:56185101G>A	ENST00000312253.1	-	1	607	c.608C>T	c.(607-609)gCt>gTt	p.A203V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATCAAAGCCAGCAAAGGCAAA	0.438													11	48					0	0	0	0	A	56185101	G	A	56185101	3	1	304	1	0	0	0	0	1	0	0	0	11251	971	34	4	368	4	OR5R1	11	56185101	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	312337	56185101	78821415	212	54581											
OR9G4	283189	broad.mit.edu	37	chr11	56511121	56511121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agataaccaaggtcatgtttCctgacaaggttatcaaatag	15	11	8	7	0	2	2	2	1	0	1	3	2	3	2	2	2	1	2	2	2	6	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:56511121C>T	ENST00000302957.3	-	1	166	c.167G>A	c.(166-168)gGa>gAa	p.G56E		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTCATGTTTCCTGACAAGGT	0.403													34	41					0	0	0	0	T	56511121	C	T	56511121	3	4	304	1	0	0	0	0	1	0	0	0	11322	855	30	2	819	2	OR9G4	11	56511121	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	326020	56511121	78495395	213	54582											
OR10W1	81341	broad.mit.edu	37	chr11	58034437	58034437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgttctgggaaaggcagttCctggtaagaactctccctac	9	11	10	11	0	2	1	0	0	2	1	4	2	3	2	2	3	2	4	2	3	4	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:58034437C>A	ENST00000395079.2	-	1	1295	c.894G>T	c.(892-894)agG>agT	p.R298S		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AAAGGCAGTTCCTGGTAAGAA	0.493													44	55					9.9998e-32	1.48131e-31	1	0	A	58034437	C	A	58034437	3	1	304	1	0	0	0	0	1	0	0	0	10992	854	30	2	27	2	OR10W1	11	58034437	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1523316	58034437	76972079	214	54583											
OR5B2	390190	broad.mit.edu	37	chr11	58190361	58190361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtagtgtaggggtttgCacactgctgcatagcggtca	7	12	15	7	1	1	0	1	0	0	0	1	0	1	0	0	4	4	6	0	4	3	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:58190361C>A	ENST00000302581.2	-	1	425	c.374G>T	c.(373-375)tGc>tTc	p.C125F		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAGGGGTTTGCACACTGCTGC	0.502													14	49					0.000151284	0.000162764	1	0	A	58190361	C	A	58190361	3	1	304	1	0	0	0	0	1	0	0	0	11221	710	25	4	559	4	OR5B2	11	58190361	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	155924	58190361	76816155	215	54584											
PATL1	219988	broad.mit.edu	37	chr11	59420459	59420459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactgctccggtgacttcctCtatctcccgcaccattgaga	7	11	8	15	2	2	2	0	2	2	1	5	4	4	2	4	1	1	2	4	1	1	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:59420459C>T	ENST00000300146.9	-	10	1238	c.1154G>A	c.(1153-1155)aGa>aAa	p.R385K		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	385	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GTGACTTCCTCTATCTCCCGC	0.433													27	109					0	0	0	0	T	59420459	C	T	59420459	3	4	304	1	0	0	0	0	1	0	0	0	11546	913	32	2	1198	2	PATL1	11	59420459	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1230098	59420459	75586057	216	54585											
MS4A2	2206	broad.mit.edu	37	chr11	59857864	59857865	+	Frame_Shift_Ins	INS	-	-	T																															tttggaacagttgtctgctcINStgtacttgatatttcacaca																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:59857864_59857865insT	ENST00000278888.3	+	3	344_345	c.242_243insT	c.(241-243)tgtfs	p.C81fs		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	81					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GTTGTCTGCTCTGTACTTGATA	0.322													26	101	---	---	---	---					T	59857865	-	T	59857864	7	5	304	1	0	1	1	0	0	0	0	0	9930	913	32	0	252	0	MS4A2	11	59857864	Frame_Shift_Ins	INS	-	TCGA-CV-7409-01A-31D-2229-08	437405	59857864	75148652	217	54586											
PRCP	5547	broad.mit.edu	37	chr11	82571077	82571077	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgtagaaaagtattgatCcaccatttttcttccagtat	12	15	6	8	0	1	2	0	1	1	1	3	2	3	2	3	0	0	3	3	0	5	7			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:82571077C>A	ENST00000313010.3	-	2	445	c.251G>T	c.(250-252)gGa>gTa	p.G84V	PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Missense_Mutation_p.G105V	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	84					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AAGTATTGATCCACCATTTTT	0.338													5	17					0.000602214	0.000634162	1	0	A	82571077	C	A	82571077	3	1	304	1	0	0	0	0	1	0	0	0	12529	855	30	2	1271	2	PRCP	11	82571077	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	22713213	82571077	52435439	218	54587											
CCDC82	79780	broad.mit.edu	37	chr11	96106572	96106572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaaagattcatctaaagCgttgatcagaagagccttca	16	9	8	8	1	4	5	3	1	1	4	4	5	4	5	1	0	2	1	1	0	5	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:96106572C>A	ENST00000278520.5	-	5	1479	c.1051G>T	c.(1051-1053)Gct>Tct	p.A351S	CCDC82_ENST00000423339.2_Missense_Mutation_p.A351S|CCDC82_ENST00000542662.1_Missense_Mutation_p.A351S			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	351							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCATCTAAAGCGTTGATCAGA	0.289													4	47					0.00116845	0.00122394	1	0	A	96106572	C	A	96106572	3	1	304	1	0	0	0	0	1	0	0	0	2883	768	27	3	603	3	CCDC82	11	96106572	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	13535495	96106572	38899944	219	54588											
ZBTB16	7704	broad.mit.edu	37	chr11	113934426	113934426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacgacaatgacacggaggCcaccatggccgatggcgggg	11	3	16	11	4	0	2	0	1	0	1	0	5	0	3	3	6	0	0	3	6	1	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:113934426C>A	ENST00000335953.4	+	2	784	c.404C>A	c.(403-405)gCc>gAc	p.A135D	ZBTB16_ENST00000392996.2_Missense_Mutation_p.A135D	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	135					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GACACGGAGGCCACCATGGCC	0.582													8	17					0.000274275	0.000292708	1	0	A	113934426	C	A	113934426	3	1	304	1	0	0	0	0	1	0	0	0	17621	739	26	4	406	4	ZBTB16	11	113934426	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	17827854	113934426	21072090	220	54589											
ABCG4	64137	broad.mit.edu	37	chr11	119031672	119031672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttagaggaacgctgcccgttCcgggagccacagagcatcct	9	7	12	13	3	0	2	0	0	0	2	2	4	2	4	4	2	4	3	4	2	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:119031672C>A	ENST00000307417.3	+	15	2161	c.1797C>A	c.(1795-1797)ttC>ttA	p.F599L	ABCG4_ENST00000449422.2_Missense_Mutation_p.F599L|ABCG4_ENST00000531739.1_Missense_Mutation_p.F599L	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	599	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTGCCCGTTCCGGGAGCCAC	0.577													26	19					1.1804e-14	1.49241e-14	1	0	A	119031672	C	A	119031672	3	1	304	1	0	0	0	0	1	0	0	0	70	854	30	2	1851	2	ABCG4	11	119031672	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	5097246	119031672	15974844	221	54590											
TECTA	7007	broad.mit.edu	37	chr11	121008261	121008261	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtgatgagggctatgctCtactgggcagccagtgtgtc	7	11	15	8	0	1	2	0	2	1	0	2	2	1	2	1	2	3	3	1	2	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:121008261C>T	ENST00000392793.1	+	11	3344	c.3073C>T	c.(3073-3075)Cta>Tta	p.L1025L	TECTA_ENST00000264037.2_Silent_p.L1025L			O75443	TECTA_HUMAN	tectorin alpha	1025	TIL 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGCTATGCTCTACTGGGCAG	0.577													31	40					0	0	0	0	T	121008261	C	T	121008261	2	4	304	1	0	0	0	0	0	0	0	1	15841	912	32	2		2	TECTA	11	121008261	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1976589	121008261	13998255	222	54591											
BSX	390259	broad.mit.edu	37	chr11	122850143	122850143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgcgtgctgcgggtgcggGaacagcgctgggactggcat	5	7	18	11	5	0	0	0	0	0	0	1	2	1	2	1	4	5	3	1	4	1	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:122850143G>T	ENST00000343035.2	-	2	333	c.285C>A	c.(283-285)ttC>ttA	p.F95L		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	95										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCGGGTGCGGGAACAGCGCTG	0.677													23	21					6.21321e-17	8.14074e-17	1	0	T	122850143	G	T	122850143	3	4	304	1	0	0	0	0	1	0	0	0	1543	1165	41	2	423	2	BSX	11	122850143	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	1841882	122850143	12156373	223	54592											
OR8B12	219858	broad.mit.edu	37	chr11	124412750	124412750	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaggacactttcccttgctcGaggggcaggatggaaagggg	9	7	17	8	1	0	0	0	0	0	0	2	5	1	3	1	7	1	2	1	7	1	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:124412750G>C	ENST00000306842.2	-	1	825	c.801C>G	c.(799-801)ctC>ctG	p.L267L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L267L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TCCCTTGCTCGAGGGGCAGGA	0.438													9	34					0	0	0	0	C	124412750	G	C	124412750	2	2	304	1	0	0	0	0	0	0	0	1	11297	1045	37	3		3	OR8B12	11	124412750	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	1562607	124412750	10593766	224	54593											
PANX3	116337	broad.mit.edu	37	chr11	124481559	124481559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggaactgcccctggaccGgatagtcaagttcgtagctg	8	10	12	11	2	2	0	1	0	1	0	3	3	2	3	3	3	3	3	3	3	4	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:124481559G>A	ENST00000284288.2	+	1	174	c.107G>A	c.(106-108)cGg>cAg	p.R36Q		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	36					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.R36Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCCCTGGACCGGATAGTCAAG	0.597													19	26					0	0	0	0	A	124481559	G	A	124481559	3	1	304	1	0	0	0	0	1	0	0	0	11493	1116	39	1	109	1	PANX3	11	124481559	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	68809	124481559	10524957	225	54594											
ROBO3	64221	broad.mit.edu	37	chr11	124743986	124743986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcagctggcaacacatGgcgtactgtggcagatggcg	9	6	14	12	2	0	1	0	0	0	1	0	1	0	1	1	4	4	5	1	4	2	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:124743986G>T	ENST00000397801.1	+	12	1997	c.1805G>T	c.(1804-1806)tGg>tTg	p.W602L	ROBO3_ENST00000538940.1_Missense_Mutation_p.W580L	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	602	Fibronectin type-III 1.				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)		GGCAACACATGGCGTACTGTG	0.552													58	126					3.77215e-22	5.19981e-22	1	0	T	124743986	G	T	124743986	3	4	304	1	0	0	0	0	1	0	0	0	13600	1357	47	4	1851	4	ROBO3	11	124743986	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	262427	124743986	10262530	226	54595											
GLB1L2	89944	broad.mit.edu	37	chr11	134217282	134217282	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggcttcaccgaagcagtGgacctttattttgaccacct	10	11	9	11	1	1	1	1	1	0	0	1	3	1	2	4	2	1	2	4	2	3	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:134217282G>T	ENST00000535456.2	+	5	701	c.513G>T	c.(511-513)gtG>gtT	p.V171V	GLB1L2_ENST00000339772.7_Silent_p.V171V|GLB1L2_ENST00000389881.3_Silent_p.V171V|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	171					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCGAAGCAGTGGACCTTTATT	0.512													106	174					9.53166e-59	1.49568e-58	1	0	T	134217282	G	T	134217282	2	4	304	1	0	0	0	0	0	0	0	1	6480	1335	47	4		4	GLB1L2	11	134217282	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	9473296	134217282	789234	227	54596											
TAS2R31	259290	broad.mit.edu	37	chr12	11183120	11183120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaatgggtggattgaaGgatagctgaatctaatagct	13	11	14	3	0	1	3	0	3	1	0	1	6	1	6	0	4	2	2	0	4	6	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:11183120G>A	ENST00000390675.2	-	1	886	c.815C>T	c.(814-816)cCt>cTt	p.P272L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	272					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						GTGGATTGAAGGATAGCTGAA	0.418													117	218					0	0	0	0	A	11183120	G	A	11183120	3	1	304	1	0	0	0	0	1	0	0	0	15665	1000	35	4	118	4	TAS2R31	12	11183120	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08		11183120	122668775	228	54597											
TAS2R42	353164	broad.mit.edu	37	chr12	11339153	11339153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacaatataagaagcataaCaatcattccgttcatcctcc	16	10	4	11	1	2	2	2	0	0	2	5	2	5	2	3	0	2	2	3	0	6	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:11339153C>T	ENST00000334266.1	-	1	390	c.391G>A	c.(391-393)Gtt>Att	p.V131I		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	131					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AGAAGCATAACAATCATTCCG	0.368													12	30					0	0	0	0	T	11339153	C	T	11339153	3	4	304	1	0	0	0	0	1	0	0	0	15671	478	17	4	557	4	TAS2R42	12	11339153	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	156033	11339153	122512742	229	54598											
LRRK2	120892	broad.mit.edu	37	chr12	40671795	40671795	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccatcaaatgtcttccaatAtcatggaacaaaaggatcaa	17	10	5	9	0	4	0	3	0	1	0	6	2	6	2	2	2	1	0	2	2	7	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:40671795A>T	ENST00000298910.7	+	17	2105	c.2047A>T	c.(2047-2049)Atc>Ttc	p.I683F	LRRK2_ENST00000343742.2_Missense_Mutation_p.I683F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	683					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTCTTCCAATATCATGGAACA	0.333													16	35					0	0	0	0	T	40671795	A	T	40671795	3	4	304	1	0	0	0	0	1	0	0	0	9097	449	16	5	2113	5	LRRK2	12	40671795	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	29332642	40671795	93180100	230	54599											
DDX23	9416	broad.mit.edu	37	chr12	49226266	49226266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgctcatggggcttgcctgCggagccaatgtacaccacag	9	7	12	13	2	1	0	1	0	0	0	1	1	1	1	3	3	4	3	3	3	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:49226266C>T	ENST00000308025.3	-	14	1973	c.1894G>A	c.(1894-1896)Gca>Aca	p.A632T		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	632						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GGCTTGCCTGCGGAGCCAATG	0.577													13	67					0	0	0	0	T	49226266	C	T	49226266	3	4	304	1	0	0	0	0	1	0	0	0	4382	768	27	1	584	1	DDX23	12	49226266	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	8554471	49226266	84625629	231	54600											
KRT79	338785	broad.mit.edu	37	chr12	53227957	53227957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgagctgaagctggtgcGggcctgggacccactccctc	6	7	13	15	1	0	2	0	2	0	0	2	3	1	3	3	3	3	2	3	3	1	0	rs142757937	byFrequency	TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:53227957G>A	ENST00000330553.5	-	1	122	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	30	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCTGGTGCGGGCCTGGGAC	0.647													21	55					0	0	0	0	A	53227957	G	A	53227957	3	1	304	1	0	0	0	0	1	0	0	0	8544	1116	39	1	1555	1	KRT79	12	53227957	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	4001691	53227957	80623938	232	54601											
NXPH4	11247	broad.mit.edu	37	chr12	57619187	57619188	+	In_Frame_Ins	INS	-	-	GGC																															ctggggcccccgctggggatINSggcagcagcagcggcggggc																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:57619187_57619188insGGC	ENST00000349394.5	+	2	759_760	c.584_585insGGC	c.(583-585)agc>aGGCgc	p.195_195S>RR	NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	195	IV (linker domain).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						CCGCTGGGGATGGCAGCAGCAG	0.752													16	38	---	---	---	---					GGC	57619188	-	GGC	57619187	7	5	304	1	0	1	1	0	0	0	0	0	10864	1464	51	0	590	0	NXPH4	12	57619187	In_Frame_Ins	INS	-	TCGA-CV-7409-01A-31D-2229-08	4391230	57619187	76232708	233	54602											
RASSF3	283349	broad.mit.edu	37	chr12	65078646	65078646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcataaatacaacttagCagtcacagacaagttgaaga	18	9	7	7	0	2	3	2	1	0	2	2	3	2	3	0	0	3	3	0	0	7	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:65078646C>T	ENST00000542104.1	+	2	311	c.191C>T	c.(190-192)gCa>gTa	p.A64V	RASSF3_ENST00000336061.2_Missense_Mutation_p.A64V	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	64					signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		TACAACTTAGCAGTCACAGAC	0.358													24	23					0	0	0	0	T	65078646	C	T	65078646	3	4	304	1	0	0	0	0	1	0	0	0	13169	710	25	4	197	4	RASSF3	12	65078646	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	7459459	65078646	68773249	234	54603											
GLIPR1L2	144321	broad.mit.edu	37	chr12	75804291	75804291	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgcataatatttatttacaAgatgtacaaatggtccatcc	15	13	5	8	1	0	1	0	0	0	1	2	1	2	1	2	1	2	2	2	1	7	7			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:75804291A>T	ENST00000550916.1	+	2	359	c.312A>T	c.(310-312)caA>caT	p.Q104H	GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.Q104H|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.Q104H|GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.Q104H|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.Q39H	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	104						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TTTATTTACAAGATGTACAAA	0.348													16	61					0	0	0	0	T	75804291	A	T	75804291	3	4	304	1	0	0	0	0	1	0	0	0	6494	69	3	5	318	5	GLIPR1L2	12	75804291	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	10725645	75804291	58047604	235	54604											
NAV3	89795	broad.mit.edu	37	chr12	78444926	78444926	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactgatgacatcaacagtGggtaagtaaccctgttctcc	11	10	10	10	0	2	2	1	2	1	0	3	3	2	3	2	2	2	3	2	2	3	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:78444926G>A	ENST00000397909.2	+	11	2688	c.2516_splice	c.e11+1	p.G839_splice	NAV3_ENST00000228327.6_Splice_Site_p.G839_splice|NAV3_ENST00000536525.2_Splice_Site_p.G839_splice|NAV3_ENST00000266692.7_Splice_Site_p.G839_splice			Q8IVL0	NAV3_HUMAN	neuron navigator 3	839						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATCAACAGTGGGTAAGTAAC	0.448										HNSCC(70;0.22)			28	41					0	0	0	0	A	78444926	G	A	78444926	5	1	304	1	0	0	0	0	0	0	1	0	10255	1362	47	4	2557	4	NAV3	12	78444926	Splice_Site	SNP	G	TCGA-CV-7409-01A-31D-2229-08	2640635	78444926	55406969	236	54605											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100491235	100491235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgaactttgggtggcatCtgcctctattcttatcatct	7	17	8	9	0	5	1	1	1	4	0	5	1	5	1	1	2	2	1	1	2	3	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:100491235C>T	ENST00000279907.7	-	6	789	c.577G>A	c.(577-579)Gat>Aat	p.D193N	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D193N	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	193										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGGGTGGCATCTGCCTCTATT	0.358													23	17					0	0	0	0	T	100491235	C	T	100491235	3	4	304	1	0	0	0	0	1	0	0	0	17065	913	32	2	3905	2	UHRF1BP1L	12	100491235	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	22046309	100491235	33360660	237	54606											
SSH1	54434	broad.mit.edu	37	chr12	109186136	109186136	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggttttgatcgagctGggttggaagctgcccccacc	7	9	14	11	1	0	1	0	1	0	0	1	4	0	2	3	3	4	5	3	3	1	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:109186136G>C	ENST00000326495.5	-	14	1912	c.1819C>G	c.(1819-1821)Cag>Gag	p.Q607E	SSH1_ENST00000360239.3_Missense_Mutation_p.Q295E|SSH1_ENST00000551165.1_Missense_Mutation_p.Q607E|SSH1_ENST00000326470.5_Missense_Mutation_p.Q618E	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	607					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGATCGAGCTGGGTTGGAAGC	0.617													17	61					0	0	0	0	C	109186136	G	C	109186136	3	2	304	1	0	0	0	0	1	0	0	0	15274	1357	47	4	1524	4	SSH1	12	109186136	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	8694901	109186136	24665759	238	54607											
FRY	10129	broad.mit.edu	37	chr13	32757164	32757164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaagctctggaaagaaGaccagaggtaagaatttgaa	19	6	12	4	0	1	6	0	1	1	5	1	8	1	7	1	2	1	2	1	2	7	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr13:32757164G>T	ENST00000380250.3	+	24	3543	c.3047G>T	c.(3046-3048)aGa>aTa	p.R1016I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1016					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTGGAAAGAAGACCAGAGGTA	0.318													20	9					2.4624e-09	2.87521e-09	1	0	T	32757164	G	T	32757164	3	4	304	1	0	0	0	0	1	0	0	0	6111	942	33	2	3141	2	FRY	13	32757164	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08		32757164	82412714	239	54608											
PCDH17	27253	broad.mit.edu	37	chr13	58207782	58207782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgaggccgcccctcccGgcaccgtcatcgccctggtg	4	6	13	18	5	1	1	1	1	0	0	3	2	2	1	6	3	1	1	6	3	0	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr13:58207782G>A	ENST00000377918.3	+	1	1128	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	368	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGCCCCTCCCGGCACCGTCAT	0.692													49	25					0	0	0	0	A	58207782	G	A	58207782	3	1	304	1	0	0	0	0	1	0	0	0	11583	1116	39	1	1104	1	PCDH17	13	58207782	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	25450618	58207782	56962096	240	54609											
DOCK9	23348	broad.mit.edu	37	chr13	99508182	99508182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaattgctcttctcactattCctttctggaaggctgttacc	7	16	7	11	0	3	0	1	0	3	0	5	2	4	1	2	2	2	3	2	2	4	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr13:99508182C>A	ENST00000376460.1	-	34	3881	c.3801G>T	c.(3799-3801)agG>agT	p.R1267S	DOCK9_ENST00000339416.2_Missense_Mutation_p.R1268S|DOCK9_ENST00000448493.2_Missense_Mutation_p.R1279S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1268					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R1267S(1)|p.R1279S(1)|p.R1268S(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTCACTATTCCTTTCTGGAA	0.398													7	103					0.0381472	0.0382436	1	0	A	99508182	C	A	99508182	3	1	304	1	0	0	0	0	1	0	0	0	4730	854	30	2	2493	2	DOCK9	13	99508182	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	41300400	99508182	15661696	241	54610											
MYO16	23026	broad.mit.edu	37	chr13	109793138	109793138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccgtcacctgctccccCgcctccgacgagtcgcccct	4	6	7	24	5	1	0	1	0	0	0	4	2	3	0	9	0	1	1	9	0	0	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr13:109793138C>T	ENST00000356711.2	+	32	4638	c.4512C>T	c.(4510-4512)ccC>ccT	p.P1504P	MYO16_ENST00000357550.2_Silent_p.P1504P	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1504	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTGCTCCCCCGCCTCCGACG	0.726													15	4					0	0	0	0	T	109793138	C	T	109793138	2	4	304	1	0	0	0	0	0	0	0	1	10134	639	23	1		1	MYO16	13	109793138	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	10284956	109793138	5376740	242	54611											
ATP11A	23250	broad.mit.edu	37	chr13	113474237	113474237	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtgggtcgcatcaacgtttAcagtgacctgaatgaccccg	9	9	11	12	4	1	3	1	3	0	0	2	3	1	3	3	1	2	2	3	1	3	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr13:113474237A>T	ENST00000487903.1	+	8	786	c.698A>T	c.(697-699)tAc>tTc	p.Y233F	ATP11A_ENST00000375630.2_Missense_Mutation_p.Y233F|ATP11A_ENST00000375645.3_Missense_Mutation_p.Y233F|ATP11A_ENST00000283558.8_Missense_Mutation_p.Y233F			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	233					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCAACGTTTACAGTGACCTG	0.617													25	11					0	0	0	0	T	113474237	A	T	113474237	3	4	304	1	0	0	0	0	1	0	0	0	1123	391	14	5	728	5	ATP11A	13	113474237	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	3681099	113474237	1695641	243	54612											
EXD2	55218	broad.mit.edu	37	chr14	69704568	69704568	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcagcgaaaggaggagctGctgcaagcactcagagagtt	13	6	13	9	1	2	1	2	0	0	1	2	5	2	3	0	2	5	5	0	2	2	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:69704568G>T	ENST00000409014.1	+	10	1851	c.1194G>T	c.(1192-1194)ctG>ctT	p.L398L	EXD2_ENST00000449989.1_Silent_p.L398L|EXD2_ENST00000409949.1_Silent_p.L398L|EXD2_ENST00000409675.1_Silent_p.L398L|EXD2_ENST00000409242.1_Silent_p.L398L|EXD2_ENST00000409018.3_Silent_p.L523L|EXD2_ENST00000312994.5_Silent_p.L523L|EXD2_ENST00000492815.1_3'UTR	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	398					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						AGGAGGAGCTGCTGCAAGCAC	0.587													10	26					9.70103e-10	1.14622e-09	1	0	T	69704568	G	T	69704568	2	4	304	1	0	0	0	0	0	0	0	1	5335	1306	46	4		4	EXD2	14	69704568	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08		69704568	37644972	244	54613											
SLC8A3	6547	broad.mit.edu	37	chr14	70518747	70518747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caatgatgacttctagtttgGggtgttcacccaatactggc	9	13	10	9	0	2	2	1	2	1	0	2	2	2	2	1	3	1	2	1	3	4	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:70518747G>T	ENST00000381269.2	-	5	2744	c.1991C>A	c.(1990-1992)cCc>cAc	p.P664H	SLC8A3_ENST00000216568.7_Missense_Mutation_p.P35H|SLC8A3_ENST00000534137.1_Missense_Mutation_p.P661H|SLC8A3_ENST00000356921.2_Missense_Mutation_p.P658H|SLC8A3_ENST00000357887.3_Missense_Mutation_p.P662H|SLC8A3_ENST00000394330.2_Missense_Mutation_p.P21H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.P662H|SLC8A3_ENST00000533541.1_Missense_Mutation_p.P21H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	664					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTCTAGTTTGGGGTGTTCACC	0.423													64	42					2.3441e-25	3.33551e-25	1	0	T	70518747	G	T	70518747	3	4	304	1	0	0	0	0	1	0	0	0	14796	1232	43	4	808	4	SLC8A3	14	70518747	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	814179	70518747	36830793	245	54614											
FAM161B	145483	broad.mit.edu	37	chr14	74409087	74409087	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgcctccttccggtGgtggcagcatcacagggccg	5	8	12	16	2	2	0	2	0	0	0	4	0	4	0	5	4	2	2	5	4	0	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:74409087G>A	ENST00000286544.3	-	4	1644	c.1446C>T	c.(1444-1446)acC>acT	p.T482T	FAM161B_ENST00000534936.1_Silent_p.T419T	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TCCTTCCGGTGGTGGCAGCAT	0.622													18	88					0	0	0	0	A	74409087	G	A	74409087	2	1	304	1	0	0	0	0	0	0	0	1	5514	1335	47	4		4	FAM161B	14	74409087	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	3890340	74409087	32940453	246	54615											
RPS6KL1	83694	broad.mit.edu	37	chr14	75376632	75376632	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctccctctggggtctggtgGatggggcctccccagctagg	3	9	15	14	0	2	0	0	0	2	0	4	1	4	1	5	7	1	1	5	7	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:75376632G>C	ENST00000555647.1	-	8	1171	c.884C>G	c.(883-885)tCc>tGc	p.S295C	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.S295C|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.S295C|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.S264C			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	295	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GGGTCTGGTGGATGGGGCCTC	0.652													7	64					0	0	0	0	C	75376632	G	C	75376632	3	2	304	1	0	0	0	0	1	0	0	0	13744	1174	41	2	858	2	RPS6KL1	14	75376632	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	967545	75376632	31972908	247	54616											
ESRRB	2103	broad.mit.edu	37	chr14	76949004	76949004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctatgccatgcctccccCtggtatgcctgagggggaca	6	9	12	14	0	1	1	0	1	1	0	2	2	2	2	5	3	3	2	5	3	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:76949004C>T	ENST00000380887.2	+	5	761	c.689C>T	c.(688-690)cCt>cTt	p.P230L	ESRRB_ENST00000556177.1_Missense_Mutation_p.P230L|ESRRB_ENST00000261532.7_Missense_Mutation_p.P230L|ESRRB_ENST00000509242.1_Missense_Mutation_p.P230L			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	230						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ATGCCTCCCCCTGGTATGCCT	0.557													41	40					0	0	0	0	T	76949004	C	T	76949004	3	4	304	1	0	0	0	0	1	0	0	0	5299	681	24	4	703	4	ESRRB	14	76949004	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1572372	76949004	30400536	248	54617											
FLRT2	23768	broad.mit.edu	37	chr14	86088983	86088983	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttcaccccagccccaagTacagcttctccgaccactca	9	8	4	20	1	4	0	2	0	2	0	5	1	4	0	6	0	3	2	6	0	2	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:86088983T>G	ENST00000330753.4	+	2	1892	c.1125T>G	c.(1123-1125)agT>agG	p.S375R	FLRT2_ENST00000554746.1_Missense_Mutation_p.S375R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	375					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)		CAGCCCCAAGTACAGCTTCTC	0.557													39	187					0	0	0	0	G	86088983	T	G	86088983	3	3	304	1	0	0	0	0	1	0	0	0	5984	1635	57	5	1127	5	FLRT2	14	86088983	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	9139979	86088983	21260557	249	54618											
KCNK10	54207	broad.mit.edu	37	chr14	88729659	88729659	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcaaagggctgctccaatgCccggaagacaagaccgccag	12	4	11	14	2	1	2	1	0	0	2	2	3	2	3	4	2	2	2	4	2	4	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:88729659C>G	ENST00000340700.5	-	2	725	c.274G>C	c.(274-276)Gca>Cca	p.A92P	KCNK10_ENST00000312350.5_Missense_Mutation_p.A97P|KCNK10_ENST00000319231.5_Missense_Mutation_p.A97P	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	92					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TGCTCCAATGCCCGGAAGACA	0.572													9	57					0	0	0	0	G	88729659	C	G	88729659	3	3	304	1	0	0	0	0	1	0	0	0	8112	739	26	4	1366	4	KCNK10	14	88729659	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	2640676	88729659	18619881	250	54619											
CCDC88C	440193	broad.mit.edu	37	chr14	91755457	91755457	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcccctacctttccccAcagacccgttgtgggcgtcg	4	8	11	18	4	0	1	0	0	0	1	2	1	1	1	7	2	1	1	7	2	1	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:91755457A>G	ENST00000389857.6	-	25	4519	c.4433T>C	c.(4432-4434)gTg>gCg	p.V1478A		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1478					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ACCTTTCCCCACAGACCCGTT	0.687													5	36					0	0	0	0	G	91755457	A	G	91755457	3	3	304	1	0	0	0	0	1	0	0	0	2892	159	6	5	1677	5	CCDC88C	14	91755457	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	3025798	91755457	15594083	251	54620											
SERPINA3	12	broad.mit.edu	37	chr14	95090073	95090073	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgcgtttcaacaggccCttcctgatgatcattgtccc	7	14	8	12	1	2	2	2	2	0	0	4	2	4	2	3	1	2	1	3	1	1	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:95090073C>A	ENST00000553947.1	+	8	2157	c.1269C>A	c.(1267-1269)ccC>ccA	p.P423P	SERPINA3_ENST00000467132.1_Silent_p.P398P|SERPINA3_ENST00000393080.4_Silent_p.P398P|SERPINA3_ENST00000393078.3_Silent_p.P398P|SERPINA3_ENST00000482740.1_Silent_p.P180P			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	398					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCAACAGGCCCTTCCTGATGA	0.498													21	200					5.26018e-13	6.54637e-13	1	0	A	95090073	C	A	95090073	2	1	304	1	0	0	0	0	0	0	0	1	14177	668	24	4		4	SERPINA3	14	95090073	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	3334616	95090073	12259467	252	54621											
MTA1	9112	broad.mit.edu	37	chr14	105929539	105929539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcccgtggaagtcgctgAccagcatcattgagtactac	10	9	10	12	2	1	2	1	2	0	0	3	3	2	3	2	1	4	4	2	1	3	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:105929539A>G	ENST00000331320.7	+	11	1175	c.961A>G	c.(961-963)Acc>Gcc	p.T321A	MTA1_ENST00000406191.1_Missense_Mutation_p.T321A|MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000405646.1_Missense_Mutation_p.T304A	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	321	SANT.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GAAGTCGCTGACCAGCATCAT	0.657													40	259					0	0	0	0	G	105929539	A	G	105929539	3	3	304	1	0	0	0	0	1	0	0	0	9978	275	10	5	1003	5	MTA1	14	105929539	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	10839466	105929539	1420001	253	54622											
GABRB3	2562	broad.mit.edu	37	chr15	26866546	26866546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacaaatgactttttgtCatttaagaaatatgtgtcgg	13	15	8	5	1	1	2	1	1	0	1	2	2	1	2	0	1	1	1	0	1	4	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:26866546C>A	ENST00000541819.2	-	5	646	c.544G>T	c.(544-546)Gac>Tac	p.D182Y	GABRB3_ENST00000311550.5_Missense_Mutation_p.D126Y|GABRB3_ENST00000545868.1_Missense_Mutation_p.D41Y|GABRB3_ENST00000400188.3_Missense_Mutation_p.D55Y|GABRB3_ENST00000299267.4_Missense_Mutation_p.D126Y			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	126					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	GACTTTTTGTCATTTAAGAAA	0.493													42	53					2.45108e-15	3.12887e-15	1	0	A	26866546	C	A	26866546	3	1	304	1	0	0	0	0	1	0	0	0	6216	826	29	2	1069	2	GABRB3	15	26866546	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08		26866546	75664846	254	54623											
GABRG3	2567	broad.mit.edu	37	chr15	27222222	27222222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttggctccaaaatccCaagacaccgacgtgactctt	10	9	9	13	2	2	2	0	1	2	1	4	3	4	2	3	2	0	1	3	2	3	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:27222222C>A	ENST00000333743.6	+	2	381	c.127C>A	c.(127-129)Caa>Aaa	p.Q43K	GABRG3_ENST00000555083.1_Missense_Mutation_p.Q43K	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	43					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TCCAAAATCCCAAGACACCGA	0.398													16	48					1.02788e-11	1.25947e-11	1	0	A	27222222	C	A	27222222	3	1	304	1	0	0	0	0	1	0	0	0	6221	595	21	4	133	4	GABRG3	15	27222222	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	355676	27222222	75309170	255	54624											
OCA2	4948	broad.mit.edu	37	chr15	28235776	28235776	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaacccagcatggccgcCagagttctgtgcacgatctg	9	7	13	12	2	2	1	0	0	2	1	2	3	2	2	3	2	3	3	3	2	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:28235776C>A	ENST00000354638.3	-	10	1217	c.1062G>T	c.(1060-1062)ctG>ctT	p.L354L	OCA2_ENST00000382996.2_Silent_p.L354L|OCA2_ENST00000353809.5_Intron	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	354					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCATGGCCGCCAGAGTTCTGT	0.557									Oculocutaneous Albinism				56	96					8.44121e-28	1.22305e-27	1	0	A	28235776	C	A	28235776	2	1	304	1	0	0	0	0	0	0	0	1	10886	581	21	4		4	OCA2	15	28235776	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1013554	28235776	74295616	256	54625											
PLCB2	5330	broad.mit.edu	37	chr15	40584265	40584265	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgcaggcaacacagacCtcaggcagacctcccatggc	11	4	11	15	0	1	2	1	0	0	2	2	2	2	2	3	3	2	4	3	3	1	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:40584265C>T	ENST00000260402.3	-	23	2775	c.2526_splice	c.e23+1	p.E842_splice	PLCB2_ENST00000456256.2_Splice_Site_p.E842_splice|PLCB2_ENST00000557821.1_Splice_Site_p.E838_splice	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	842					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAACACAGACCTCAGGCAGAC	0.597													25	31					0	0	0	0	T	40584265	C	T	40584265	5	4	304	1	0	0	0	0	0	0	1	0	12100	695	24	4	1071	4	PLCB2	15	40584265	Splice_Site	SNP	C	TCGA-CV-7409-01A-31D-2229-08	12348489	40584265	61947127	257	54626											
SECISBP2L	9728	broad.mit.edu	37	chr15	49327610	49327610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccaagctgacttggaCgctcagtgcattctgtggtg	6	12	12	11	1	2	1	1	1	1	0	3	2	3	2	2	2	2	3	2	2	1	2	rs138614543		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:49327610C>T	ENST00000559471.1	-	3	712	c.449G>A	c.(448-450)cGt>cAt	p.R150H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.R150H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	150										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGACTTGGACGCTCAGTGCA	0.468													24	66					0	0	0	0	T	49327610	C	T	49327610	3	4	304	1	0	0	0	0	1	0	0	0	14094	536	19	1	2781	1	SECISBP2L	15	49327610	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	8743345	49327610	53203782	258	54627											
NARG2	79664	broad.mit.edu	37	chr15	60760373	60760373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctctctctgtgagaaacGagagaaacgaggataaggaa	15	7	12	7	2	2	2	0	1	2	2	3	8	2	4	0	2	3	1	0	2	4	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:60760373G>A	ENST00000261520.4	-	4	529	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	NARG2_ENST00000561114.1_Missense_Mutation_p.R99C|NARG2_ENST00000439632.1_Intron|NARG2_ENST00000558654.1_Intron	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	99						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TGTGAGAAACGAGAGAAACGA	0.393													25	20					0	0	0	0	A	60760373	G	A	60760373	3	1	304	1	0	0	0	0	1	0	0	0	10239	1058	37	1	2705	1	NARG2	15	60760373	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	11432763	60760373	41771019	259	54628											
CLPX	10845	broad.mit.edu	37	chr15	65447147	65447147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctgaataaggcctggtaCtgaggaataacagcatttcg	13	10	11	7	1	0	2	0	2	0	0	1	3	0	3	1	3	4	3	1	3	5	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:65447147C>T	ENST00000300107.3	-	11	1772	c.1584G>A	c.(1582-1584)caG>caA	p.Q528Q		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	528					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						AGGCCTGGTACTGAGGAATAA	0.343													12	23					0	0	0	0	T	65447147	C	T	65447147	2	4	304	1	0	0	0	0	0	0	0	1	3586	564	20	4		4	CLPX	15	65447147	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	4686774	65447147	37084245	260	54629											
SCNN1B	6338	broad.mit.edu	37	chr16	23364139	23364139	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtattccaaaatcaagcAtttgctgaaggacctggatg	13	10	10	8	0	1	1	1	1	0	0	2	3	2	3	2	3	2	3	2	3	5	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:23364139A>G	ENST00000343070.2	+	3	505	c.329A>G	c.(328-330)cAt>cGt	p.H110R	SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568923.1_Missense_Mutation_p.H110R|SCNN1B_ENST00000307331.5_Missense_Mutation_p.H155R|SCNN1B_ENST00000568085.1_Missense_Mutation_p.H110R	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	110					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.H110R(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AAAATCAAGCATTTGCTGAAG	0.507													38	68					0	0	0	0	G	23364139	A	G	23364139	3	3	304	1	0	0	0	0	1	0	0	0	14015	217	8	5	335	5	SCNN1B	16	23364139	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08		23364139	66990614	261	54630											
SETD1A	9739	broad.mit.edu	37	chr16	30976967	30976967	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acatggagatctccgacgacGaccggggtggctcaccccct	8	6	12	15	4	2	1	1	0	1	1	3	5	2	1	4	4	0	1	4	4	0	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:30976967G>C	ENST00000262519.8	+	8	2451	c.1765G>C	c.(1765-1767)Gac>Cac	p.D589H		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	589	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTCCGACGACGACCGGGGTGG	0.682													16	37					0	0	0	0	C	30976967	G	C	30976967	3	2	304	1	0	0	0	0	1	0	0	0	14217	1058	37	3	1791	3	SETD1A	16	30976967	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	7612828	30976967	59377786	262	54631											
STX4	6810	broad.mit.edu	37	chr16	31051061	31051061	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagaaagtcttgattgcCatctgtgtgtccatcaccgt	10	12	9	10	1	3	3	1	1	2	2	4	3	4	3	3	0	1	0	3	0	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:31051061C>T	ENST00000394998.1	+	11	1168	c.825C>T	c.(823-825)gcC>gcT	p.A275A	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Silent_p.A277A	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	277	Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TCTTGATTGCCATCTGTGTGT	0.582													81	177					0	0	0	0	T	31051061	C	T	31051061	2	4	304	1	0	0	0	0	0	0	0	1	15437	581	21	4		4	STX4	16	31051061	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	74094	31051061	59303692	263	54632											
CES1	1066	broad.mit.edu	37	chr16	55850844	55850844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaggtccttacctctctggGgtctccctgtaagtccagag	8	11	10	12	0	2	1	0	0	2	1	6	1	4	1	4	3	1	1	4	3	3	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:55850844G>T	ENST00000422046.2	-	8	1215	c.934C>A	c.(934-936)Ccc>Acc	p.P312T	CES1_ENST00000361503.4_Missense_Mutation_p.P312T|CES1_ENST00000360526.3_Missense_Mutation_p.P313T			P23141	EST1_HUMAN	carboxylesterase 1	312					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)	ACCTCTCTGGGGTCTCCCTGT	0.468													61	118					2.81305e-35	4.19842e-35	1	0	T	55850844	G	T	55850844	3	4	304	1	0	0	0	0	1	0	0	0	3298	1232	43	4	797	4	CES1	16	55850844	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	24799783	55850844	34503909	264	54633											
HYDIN	54768	broad.mit.edu	37	chr16	71026054	71026054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcctctgaggttgctGggatggactccatctgggac	6	10	15	10	0	2	1	0	1	2	0	3	4	3	4	2	5	2	3	2	5	0	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:71026054G>T	ENST00000393567.2	-	24	3854	c.3704C>A	c.(3703-3705)cCa>cAa	p.P1235Q	HYDIN_ENST00000448089.2_Missense_Mutation_p.P1187Q	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1235										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGAGGTTGCTGGGATGGACTC	0.512													33	48					9.04072e-19	1.20847e-18	1	0	T	71026054	G	T	71026054	3	4	304	1	0	0	0	0	1	0	0	0	7520	1348	47	4	11910	4	HYDIN	16	71026054	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	15175210	71026054	19328699	265	54634											
ZNRF1	84937	broad.mit.edu	37	chr16	75033821	75033821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcaccggcgactccgagagGgcgcccggcggcggagggtc	5	2	20	14	7	0	1	0	0	0	1	2	4	1	2	3	7	0	1	3	7	0	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:75033821G>A	ENST00000335325.4	+	1	894	c.252G>A	c.(250-252)agG>agA	p.R84R	ZNRF1_ENST00000566250.1_Silent_p.R84R|ZNRF1_ENST00000320619.6_Silent_p.R84R|ZNRF1_ENST00000567962.1_Silent_p.R84R	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	84						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						ACTCCGAGAGGGCGCCCGGCG	0.706													4	6					0	0	0	0	A	75033821	G	A	75033821	2	1	304	1	0	0	0	0	0	0	0	1	18304	1223	43	4		4	ZNRF1	16	75033821	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	4007767	75033821	15320932	266	54635											
ADAMTS18	170692	broad.mit.edu	37	chr16	77328833	77328833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgttacctgagaccagggtCcaaggctccattgtggaggg	8	9	14	10	0	0	1	0	1	0	1	2	3	2	2	4	4	1	2	4	4	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:77328833C>T	ENST00000282849.5	-	19	3411	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	998	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGACCAGGGTCCAAGGCTCCA	0.537													10	31					0	0	0	0	T	77328833	C	T	77328833	3	4	304	1	0	0	0	0	1	0	0	0	263	855	30	2	692	2	ADAMTS18	16	77328833	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	2295012	77328833	13025920	267	54636											
PRPF8	10594	broad.mit.edu	37	chr17	1576445	1576445	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaagcgctgcattgacTcatcgtccacacgcaggaaa	11	8	11	11	3	1	1	1	1	0	0	3	3	2	3	1	2	2	3	1	2	2	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:1576445T>C	ENST00000572621.1	-	23	3969	c.3704A>G	c.(3703-3705)gAg>gGg	p.E1235G	PRPF8_ENST00000304992.6_Missense_Mutation_p.E1235G			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1235						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTGCATTGACTCATCGTCCAC	0.547													58	24					0	0	0	0	C	1576445	T	C	1576445	3	2	304	1	0	0	0	0	1	0	0	0	12655	1551	54	5	3383	5	PRPF8	17	1576445	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08		1576445	79618765	268	54637											
TP53	7157	broad.mit.edu	37	chr17	7578526	7578526	+	Frame_Shift_Del	DEL	C	C	-																															ggcaggtcttggccagttggCaaaacatcttgttgagggca																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:7578526delC	ENST00000420246.2	-	5	536	c.404delG	c.(403-405)tcfs	p.C135fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.C135fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C135fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCAGTTGGCAAAACATCTT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	25	---	---	---	---					-	7578526	C	-	7578526	7	5	304	1	0	1	0	1	0	0	0	0	16476	710	25	0	894	0	TP53	17	7578526	Frame_Shift_Del	DEL	C	TCGA-CV-7409-01A-31D-2229-08	6002081	7578526	73616684	269	54638											
FLII	2314	broad.mit.edu	37	chr17	18151089	18151089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaggcgcggggacttgCggccgagccagatgaacacg	9	3	16	13	5	0	2	0	1	0	1	0	4	0	3	3	4	3	1	3	4	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:18151089C>A	ENST00000327031.4	-	20	2594	c.2369G>T	c.(2368-2370)cGc>cTc	p.R790L	FLII_ENST00000379450.4_Missense_Mutation_p.R704L|FLII_ENST00000579294.1_Missense_Mutation_p.R779L|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.R735L	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	790	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CGGGGACTTGCGGCCGAGCCA	0.672													31	14					3.80469e-20	5.15517e-20	1	0	A	18151089	C	A	18151089	3	1	304	1	0	0	0	0	1	0	0	0	5970	768	27	3	1484	3	FLII	17	18151089	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	10572563	18151089	63044121	270	54639											
RDM1	201299	broad.mit.edu	37	chr17	34251686	34251686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggatggcaacaccacttCtaaagcacagaagaacttca	17	6	7	11	0	2	2	1	0	1	2	2	3	2	3	1	2	3	2	1	2	5	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:34251686C>T	ENST00000394529.3	-	3	907	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	RDM1_ENST00000425909.3_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000419453.2_Missense_Mutation_p.E141K|RDM1_ENST00000293273.6_Missense_Mutation_p.E164K|RDM1_ENST00000431884.2_Missense_Mutation_p.E164K|RDM1_ENST00000430160.2_Missense_Mutation_p.E141K|RDM1_ENST00000394528.3_Missense_Mutation_p.E164K|RDM1_ENST00000394527.1_Intron	NM_001163130.1	NP_001156602.1	Q8NG50	RDM1_HUMAN	RAD52 motif 1	164					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AACACCACTTCTAAAGCACAG	0.488								Other identified genes with known or suspected DNA repair function					39	82					0	0	0	0	T	34251686	C	T	34251686	3	4	304	1	0	0	0	0	1	0	0	0	13279	922	32	2	424	2	RDM1	17	34251686	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	16100597	34251686	46943524	271	54640											
BECN1	8678	broad.mit.edu	37	chr17	40967928	40967928	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccctagctctcattaccaGatgtggaaggttgcattaaa	11	12	8	10	0	1	1	1	0	1	1	3	2	2	2	3	2	3	3	3	2	5	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:40967928G>A	ENST00000361523.4	-	8	960	c.828C>T	c.(826-828)atC>atT	p.I276I	BECN1_ENST00000590099.1_Silent_p.I276I|BECN1_ENST00000438274.3_Silent_p.I200I	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	276					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTCATTACCAGATGTGGAAGG	0.483													68	48					0	0	0	0	A	40967928	G	A	40967928	2	1	304	1	0	0	0	0	0	0	0	1	1400	932	33	2		2	BECN1	17	40967928	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	6716242	40967928	40227282	272	54641											
RAD51C	5889	broad.mit.edu	37	chr17	56787303	56787303	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtactcggttattaaaTggcctagcccagcaaatgat	11	12	8	10	2	0	1	0	1	0	0	2	1	0	1	2	2	3	3	2	2	6	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:56787303T>C	ENST00000337432.4	+	5	860	c.789T>C	c.(787-789)aaT>aaC	p.N263N	RAD51C_ENST00000583539.1_Silent_p.N263N	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	263					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTTATTAAATGGCCTAGCCC	0.373								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				33	77					0	0	0	0	C	56787303	T	C	56787303	2	2	304	1	0	0	0	0	0	0	0	1	13070	1461	51	5		5	RAD51C	17	56787303	Silent	SNP	T	TCGA-CV-7409-01A-31D-2229-08	15819375	56787303	24407907	273	54642											
TUBD1	51174	broad.mit.edu	37	chr17	57955549	57955549	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgatgtgcgaggacttgAttgatatcactaaaggagat	13	11	12	5	1	1	4	1	3	0	1	1	7	1	5	0	2	2	1	0	2	3	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:57955549A>G	ENST00000325752.3	-	5	961	c.684T>C	c.(682-684)aaT>aaC	p.N228N	TUBD1_ENST00000592426.1_Silent_p.N228N|TUBD1_ENST00000394239.3_Silent_p.N228N|TUBD1_ENST00000376094.4_Silent_p.N228N|TUBD1_ENST00000539018.1_Silent_p.N12N|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Silent_p.N228N	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	228					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			CGAGGACTTGATTGATATCAC	0.433													17	63					0	0	0	0	G	57955549	A	G	57955549	2	3	304	1	0	0	0	0	0	0	0	1	16858	330	12	5		5	TUBD1	17	57955549	Silent	SNP	A	TCGA-CV-7409-01A-31D-2229-08	1168246	57955549	23239661	274	54643											
ABCA9	10350	broad.mit.edu	37	chr17	66978735	66978735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaagcctgtgataaaGgtcgcacatcctcaacaggc	14	7	10	10	1	1	3	1	2	0	1	3	3	2	3	2	2	2	1	2	2	5	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:66978735G>A	ENST00000340001.4	-	37	4899	c.4688C>T	c.(4687-4689)cCt>cTt	p.P1563L	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Missense_Mutation_p.P1525L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1563					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTGTGATAAAGGTCGCACATC	0.448													57	22					0	0	0	0	A	66978735	G	A	66978735	3	1	304	1	0	0	0	0	1	0	0	0	39	1000	35	4	198	4	ABCA9	17	66978735	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	9023186	66978735	14216475	275	54644											
PTPRM	5797	broad.mit.edu	37	chr18	7955293	7955293	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagtcgattccacgagctAtaaaattggacaccttgacc	12	9	8	12	2	0	1	0	1	0	0	2	4	1	2	4	1	1	1	4	1	3	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:7955293A>G	ENST00000332175.8	+	7	2050	c.1013A>G	c.(1012-1014)tAt>tGt	p.Y338C	PTPRM_ENST00000444013.1_Missense_Mutation_p.Y125C|PTPRM_ENST00000400053.4_Missense_Mutation_p.Y276C|PTPRM_ENST00000400060.4_Missense_Mutation_p.Y338C|PTPRM_ENST00000580170.1_Missense_Mutation_p.Y338C	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	338	Fibronectin type-III 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCCACGAGCTATAAAATTGGA	0.572													15	34					0	0	0	0	G	7955293	A	G	7955293	3	3	304	1	0	0	0	0	1	0	0	0	12888	449	16	5	1039	5	PTPRM	18	7955293	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08		7955293	70121955	276	54645											
MC2R	4158	broad.mit.edu	37	chr18	13885460	13885460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaaccacacgaggacagtCggaattatttcttgctgtgt	12	11	9	9	2	1	0	0	0	1	0	2	3	1	2	1	2	2	1	1	2	4	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:13885460C>T	ENST00000327606.3	-	2	238	c.58G>A	c.(58-60)Gac>Aac	p.D20N		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	20					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	p.D20H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CGAGGACAGTCGGAATTATTT	0.418													12	23					0	0	0	0	T	13885460	C	T	13885460	3	4	304	1	0	0	0	0	1	0	0	0	9433	884	31	1	839	1	MC2R	18	13885460	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	5930167	13885460	64191788	277	54646											
MAPRE2	10982	broad.mit.edu	37	chr18	32682063	32682063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcaattcctcctcctgacCctggtgaacagatcttcaac	10	11	6	14	0	2	3	1	2	1	1	5	3	5	3	4	1	3	1	4	1	3	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:32682063C>T	ENST00000436190.2	+	5	788	c.514C>T	c.(514-516)Cct>Tct	p.P172S	MAPRE2_ENST00000588910.1_Missense_Mutation_p.P184S|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P131S|MAPRE2_ENST00000300249.5_Missense_Mutation_p.P184S|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P141S|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P141S	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	184					cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TCCTCCTGACCCTGGTGAACA	0.448													10	34					0	0	0	0	T	32682063	C	T	32682063	3	4	304	1	0	0	0	0	1	0	0	0	9364	623	22	4	658	4	MAPRE2	18	32682063	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	18796603	32682063	45395185	278	54647											
TCEB3B	51224	broad.mit.edu	37	chr18	44559812	44559812	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggcgtccggaagccgcagGtactgctccctccaagtttt	6	9	13	13	3	0	0	0	0	0	0	3	1	3	1	4	4	3	4	4	4	3	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:44559812G>T	ENST00000332567.4	-	1	2176	c.1824C>A	c.(1822-1824)taC>taA	p.Y608*	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	608	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAAGCCGCAGGTACTGCTCCC	0.512													22	64					1.42536e-11	1.74113e-11	1	0	T	44559812	G	T	44559812	4	4	304	1	0	0	0	0	0	1	0	0	15776	1256	44	4	441	4	TCEB3B	18	44559812	Nonsense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	11877749	44559812	33517436	279	54648											
MBD1	4152	broad.mit.edu	37	chr18	47806253	47806253	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccactacccacccagtacCtctggtaataggtgtctgag	9	9	9	14	0	2	1	0	1	2	0	2	1	2	1	4	2	2	2	4	2	4	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:47806253C>T	ENST00000591416.1	-	2	541	c.110_splice	c.e2+1	p.S37_splice	MBD1_ENST00000585595.1_Splice_Site_p.S37_splice|MBD1_ENST00000436910.1_Splice_Site_p.S37_splice|MBD1_ENST00000424334.2_Splice_Site_p.S63_splice|MBD1_ENST00000398488.1_Splice_Site_p.S37_splice|MBD1_ENST00000398493.1_Splice_Site_p.S37_splice|MBD1_ENST00000398495.2_Splice_Site_p.S37_splice|MBD1_ENST00000382948.5_Splice_Site_p.S37_splice|MBD1_ENST00000347968.3_Splice_Site_p.S37_splice|MBD1_ENST00000457839.2_Splice_Site_p.S37_splice|MBD1_ENST00000339998.6_Splice_Site_p.S37_splice|MBD1_ENST00000269471.5_Splice_Site_p.S37_splice|MBD1_ENST00000353909.3_Splice_Site_p.S37_splice|MBD1_ENST00000588937.1_Splice_Site_p.S37_splice|MBD1_ENST00000591535.1_Splice_Site_p.S37_splice|MBD1_ENST00000587605.1_Splice_Site_p.S37_splice|MBD1_ENST00000349085.2_Splice_Site_p.S37_splice|MBD1_ENST00000585672.1_Splice_Site_p.S37_splice|MBD1_ENST00000590208.1_Splice_Site_p.S37_splice|MBD1_ENST00000269468.5_Splice_Site_p.S37_splice			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	37	MBD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CACCCAGTACCTCTGGTAATA	0.542													15	38					0	0	0	0	T	47806253	C	T	47806253	5	4	304	1	0	0	0	0	0	0	1	0	9411	695	24	4	1961	4	MBD1	18	47806253	Splice_Site	SNP	C	TCGA-CV-7409-01A-31D-2229-08	3246441	47806253	30270995	280	54649											
DCC	1630	broad.mit.edu	37	chr18	50432616	50432616	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcagccgactccaaccgggGgacattggaatttaccgatg	11	8	11	11	3	1	0	1	0	0	0	2	4	2	2	4	3	3	0	4	3	3	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:50432616G>T	ENST00000442544.2	+	3	1231	c.615G>T	c.(613-615)ggG>ggT	p.G205G	DCC_ENST00000412726.1_Silent_p.G53G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	205	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCAACCGGGGGACATTGGAA	0.502													15	38					1.05317e-09	1.23701e-09	1	0	T	50432616	G	T	50432616	2	4	304	1	0	0	0	0	0	0	0	1	4314	1219	43	4		4	DCC	18	50432616	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	2626363	50432616	27644632	281	54650											
DCC	1630	broad.mit.edu	37	chr18	50832003	50832003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacacaaaatggatttattaCcggctataaaattcgacaca	18	10	5	8	2	0	0	0	0	0	0	1	2	0	1	1	2	2	1	1	2	8	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:50832003C>A	ENST00000442544.2	+	13	2583	c.1967C>A	c.(1966-1968)aCc>aAc	p.T656N	DCC_ENST00000412726.1_Missense_Mutation_p.T504N|DCC_ENST00000581580.1_Missense_Mutation_p.T311N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	656	Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGATTTATTACCGGCTATAAA	0.413													14	30					1.5842e-08	1.81771e-08	1	0	A	50832003	C	A	50832003	3	1	304	1	0	0	0	0	1	0	0	0	4314	507	18	4	2017	4	DCC	18	50832003	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	399387	50832003	27245245	282	54651											
DCC	1630	broad.mit.edu	37	chr18	50848513	50848513	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatactgcagagactccagAgaatgatctagatggtaaga	15	9	11	6	0	1	5	0	1	1	4	2	7	2	5	1	1	2	3	1	1	5	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:50848513A>T	ENST00000442544.2	+	14	2766	c.2150A>T	c.(2149-2151)gAg>gTg	p.E717V	DCC_ENST00000412726.1_Missense_Mutation_p.E565V|DCC_ENST00000581580.1_Missense_Mutation_p.E372V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	717					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAGACTCCAGAGAATGATCTA	0.418													15	27					0	0	0	0	T	50848513	A	T	50848513	3	4	304	1	0	0	0	0	1	0	0	0	4314	304	11	5	2204	5	DCC	18	50848513	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	16510	50848513	27228735	283	54652											
CDH7	1005	broad.mit.edu	37	chr18	63526186	63526186	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcaagtaggaagaggCtatgtggccatcactatact	12	10	9	10	0	2	1	2	0	1	1	3	2	2	2	2	3	1	2	2	3	6	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:63526186C>T	ENST00000536984.2	+	9	2092	c.1398C>T	c.(1396-1398)ggC>ggT	p.G466G	CDH7_ENST00000323011.3_Silent_p.G466G|CDH7_ENST00000397968.2_Silent_p.G466G			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	466	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TAGGAAGAGGCTATGTGGCCA	0.413													8	17					0	0	0	0	T	63526186	C	T	63526186	2	4	304	1	0	0	0	0	0	0	0	1	3144	784	28	4		4	CDH7	18	63526186	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	12677673	63526186	14551062	284	54653											
CDH19	28513	broad.mit.edu	37	chr18	64172293	64172293	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttcctgaatatggcaCtgtcggggccaacttgcaaa	11	11	10	9	1	0	2	0	2	0	0	2	2	1	2	2	3	2	2	2	3	5	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:64172293C>G	ENST00000262150.2	-	12	2367	c.2075G>C	c.(2074-2076)aGt>aCt	p.S692T	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	692					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GAATATGGCACTGTCGGGGCC	0.498													39	76					0	0	0	0	G	64172293	C	G	64172293	3	3	304	1	0	0	0	0	1	0	0	0	3133	565	20	4	247	4	CDH19	18	64172293	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	646107	64172293	13904955	285	54654											
DOK6	220164	broad.mit.edu	37	chr18	67231740	67231740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagattttcagacgatgctgGttggttttcaagaaggcttc	9	14	11	7	1	2	3	2	0	0	3	3	4	2	3	0	3	1	4	0	3	2	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:67231740G>T	ENST00000382713.5	+	2	274	c.84G>T	c.(82-84)tgG>tgT	p.W28C	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	28	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GACGATGCTGGTTGGTTTTCA	0.338													8	30					0.00621372	0.00630907	1	0	T	67231740	G	T	67231740	3	4	304	1	0	0	0	0	1	0	0	0	4737	1270	44	4	90	4	DOK6	18	67231740	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	3059447	67231740	10845508	286	54655											
SALL3	27164	broad.mit.edu	37	chr18	76754599	76754599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtccgtggagaacgggtccGgggagagtgaccgcctgagc	8	5	18	10	4	0	4	0	2	0	2	2	6	2	4	4	4	2	0	4	4	1	0	rs146129529		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:76754599G>T	ENST00000536229.3	+	1	2918	c.2209G>T	c.(2209-2211)Ggg>Tgg	p.G737W	SALL3_ENST00000537592.2_Missense_Mutation_p.G870W|SALL3_ENST00000575389.2_Missense_Mutation_p.G870W			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GAACGGGTCCGGGGAGAGTGA	0.667													11	53					6.42651e-13	7.97289e-13	1	0	T	76754599	G	T	76754599	3	4	304	1	0	0	0	0	1	0	0	0	13897	1116	39	3	2614	3	SALL3	18	76754599	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	9522859	76754599	1322649	287	54656											
ARID3A	1820	broad.mit.edu	37	chr19	971949	971950	+	In_Frame_Ins	INS	-	-	GCA																															aggaggcggcggcggcggcgINSgcagcagcagcaacgcaggc																								rs1051505	byFrequency	TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:971949_971950insGCA	ENST00000263620.3	+	9	1993_1994	c.1666_1667insGCA	c.(1666-1668)cag>GCAcag	p.555_556insA		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	555	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		cggcggcggcggcagcagcagc	0.653													21	36	---	---	---	---					GCA	971950	-	GCA	971949	7	5	304	1	0	1	1	0	0	0	0	0	918	1116	39	0	1696	0	ARID3A	19	971949	In_Frame_Ins	INS	-	TCGA-CV-7409-01A-31D-2229-08		971949	58157034	288	54657											
GRIN3B	116444	broad.mit.edu	37	chr19	1005351	1005351	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccgtcttctcctactcCtcagccctcaacctgtgcta	7	11	5	18	1	4	0	2	0	2	0	6	0	5	0	5	0	5	2	5	0	3	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:1005351C>A	ENST00000234389.3	+	3	1870	c.1851C>A	c.(1849-1851)tcC>tcA	p.S617S		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	617					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TCTCCTACTCCTCAGCCCTCA	0.657													56	69					5.82218e-30	8.59258e-30	1	0	A	1005351	C	A	1005351	2	1	304	1	0	0	0	0	0	0	0	1	6834	668	24	4		4	GRIN3B	19	1005351	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	33402	1005351	58123632	289	54658											
FEM1A	55527	broad.mit.edu	37	chr19	4792850	4792850	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggcgggccatggagctGcgtcaccaggggggcgagta	7	5	20	9	3	1	0	1	0	0	0	1	3	1	2	2	7	2	2	2	7	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:4792850G>A	ENST00000269856.3	+	1	1123	c.984G>A	c.(982-984)ctG>ctA	p.L328L	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	328					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCATGGAGCTGCGTCACCAGG	0.602													16	66					0	0	0	0	A	4792850	G	A	4792850	2	1	304	1	0	0	0	0	0	0	0	1	5854	1306	46	4		4	FEM1A	19	4792850	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	3787499	4792850	54336133	290	54659											
MUC16	94025	broad.mit.edu	37	chr19	9066714	9066714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccattggagctgtggccttgGttttttctgagtcagctagg	5	15	13	8	0	2	1	1	1	1	0	2	2	2	2	2	4	2	3	2	4	1	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:9066714G>T	ENST00000397910.4	-	3	20935	c.20732C>A	c.(20731-20733)aCc>aAc	p.T6911N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6913	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						TGTGGCCTTGGTTTTTTCTGA	0.478													59	200					1.44317e-28	2.12199e-28	1	0	T	9066714	G	T	9066714	3	4	304	1	0	0	0	0	1	0	0	0	10043	1261	44	4	23119	4	MUC16	19	9066714	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	4273864	9066714	50062269	291	54660											
ZNF560	147741	broad.mit.edu	37	chr19	9580305	9580305	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgttcttcacaaacactcaCcttggagaactcttggcagt	10	13	7	11	0	4	1	2	0	2	1	4	2	4	1	1	2	2	2	1	2	2	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:9580305C>T	ENST00000301480.4	-	8	743		c.e8+1			NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CAAACACTCACCTTGGAGAAC	0.458													8	32					0	0	0	0	T	9580305	C	T	9580305	5	4	304	1	0	0	0	0	0	0	1	0	18086	521	18	4	1854	4	ZNF560	19	9580305	Splice_Site	SNP	C	TCGA-CV-7409-01A-31D-2229-08	513591	9580305	49548678	292	54661											
KANK2	25959	broad.mit.edu	37	chr19	11304442	11304442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catactgagggtagaagccaCggccgcagtaggaataggct	12	6	14	9	2	0	2	0	1	0	1	0	3	0	3	2	4	2	4	2	4	6	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:11304442C>A	ENST00000432929.2	-	4	674	c.314G>T	c.(313-315)cGt>cTt	p.R105L	KANK2_ENST00000589359.1_Missense_Mutation_p.R105L|KANK2_ENST00000355150.5_Missense_Mutation_p.R105L|KANK2_ENST00000586659.1_Missense_Mutation_p.R105L|KANK2_ENST00000589894.1_Missense_Mutation_p.R105L	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	105								p.R105H(1)		endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTAGAAGCCACGGCCGCAGTA	0.667													23	107					8.24728e-16	1.0596e-15	1	0	A	11304442	C	A	11304442	3	1	304	1	0	0	0	0	1	0	0	0	8030	536	19	3	2305	3	KANK2	19	11304442	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1724137	11304442	47824541	293	54662											
ZNF136	7695	broad.mit.edu	37	chr19	12296670	12296670	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgctagatccttcccAgaagaatctctacagagatg	11	11	9	10	0	1	4	0	0	1	4	4	5	3	4	2	1	2	2	2	1	4	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:12296670A>T	ENST00000343979.4	+	2	214	c.74A>T	c.(73-75)cAg>cTg	p.Q25L	ZNF136_ENST00000398616.2_Intron	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	25	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GATCCTTCCCAGAAGAATCTC	0.448													30	47					0	0	0	0	T	12296670	A	T	12296670	3	4	304	1	0	0	0	0	1	0	0	0	17821	188	7	5	80	5	ZNF136	19	12296670	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	992228	12296670	46832313	294	54663											
NWD1	284434	broad.mit.edu	37	chr19	16860954	16860954	+	Missense_Mutation	SNP	C	C	A																															ccctttccggaaaccaaggcCagcagatgatccaactcctg																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:16860954C>A	ENST00000524140.2	+	6	1919	c.1501C>A	c.(1501-1503)Cag>Aag	p.Q501K	NWD1_ENST00000552788.1_Missense_Mutation_p.Q501K|NWD1_ENST00000549814.1_Missense_Mutation_p.Q501K|NWD1_ENST00000523826.1_Missense_Mutation_p.Q295K|NWD1_ENST00000339803.6_Missense_Mutation_p.Q366K|NWD1_ENST00000379808.3_Missense_Mutation_p.Q501K	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	501	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAACCAAGGCCAGCAGATGAT	0.637													28	63					9.78306e-22	1.33467e-21	1	0	A	16860954	C	A	16860954	3	1	304	1	0	0	0	0	1	0	0	0	10852	595	21	4	1102	4	NWD1	19	16860954	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	4564284	16860954	42268029	295	54664	445	2									
NWD1	284434	broad.mit.edu	37	chr19	16860955	16860955	+	Missense_Mutation	SNP	A	A	G																															cctttccggaaaccaaggccAgcagatgatccaactcctgc																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:16860955A>G	ENST00000524140.2	+	6	1920	c.1502A>G	c.(1501-1503)cAg>cGg	p.Q501R	NWD1_ENST00000552788.1_Missense_Mutation_p.Q501R|NWD1_ENST00000549814.1_Missense_Mutation_p.Q501R|NWD1_ENST00000523826.1_Missense_Mutation_p.Q295R|NWD1_ENST00000339803.6_Missense_Mutation_p.Q366R|NWD1_ENST00000379808.3_Missense_Mutation_p.Q501R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	501	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AACCAAGGCCAGCAGATGATC	0.642													28	63					0	0	0	0	G	16860955	A	G	16860955	3	3	304	1	0	0	0	0	1	0	0	0	10852	188	7	5	1103	5	NWD1	19	16860955	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	1	16860955	42268028	296	54665	445	2									
UNC13A	23025	broad.mit.edu	37	chr19	17768873	17768873	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactccgcagcacctacctGagggcttgtggctcagagaa	9	7	12	13	1	1	2	1	1	0	1	2	3	2	2	3	2	2	5	3	2	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:17768873G>T	ENST00000428389.2	-	10	1028	c.1029C>A	c.(1027-1029)ctC>ctA	p.L343L	UNC13A_ENST00000552293.1_Silent_p.L255L|UNC13A_ENST00000551649.1_Silent_p.L255L|UNC13A_ENST00000519716.2_Silent_p.L255L|UNC13A_ENST00000252773.7_Silent_p.L255L|UNC13A_ENST00000550896.1_Silent_p.L255L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	255	Glu-rich.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCACCTACCTGAGGGCTTGTG	0.602													9	11					7.48243e-07	8.36767e-07	1	0	T	17768873	G	T	17768873	2	4	304	1	0	0	0	0	0	0	0	1	17080	1277	45	2		2	UNC13A	19	17768873	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	907918	17768873	41360110	297	54666											
ZNF708	7562	broad.mit.edu	37	chr19	21477072	21477072	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagttgaggactggttaaaAgcttttccacattcttcaca	12	13	8	8	0	2	2	1	1	1	1	3	3	3	3	1	2	1	3	1	2	2	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:21477072A>G	ENST00000356929.3	-	4	893	c.696T>C	c.(694-696)gcT>gcC	p.A232A		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ACTGGTTAAAAGCTTTTCCAC	0.358													25	29					0	0	0	0	G	21477072	A	G	21477072	2	3	304	1	0	0	0	0	0	0	0	1	18207	59	3	5		5	ZNF708	19	21477072	Silent	SNP	A	TCGA-CV-7409-01A-31D-2229-08	3708199	21477072	37651911	298	54667											
NFKBID	84807	broad.mit.edu	37	chr19	36388629	36388629	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggaggcaggaaattttcgGcagcagaagcagggcaagag	14	4	16	7	1	0	2	0	0	0	2	1	4	0	4	0	5	2	5	0	5	3	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:36388629G>C	ENST00000352614.2	-	4	385	c.386C>G	c.(385-387)gCc>gGc	p.A129G	NFKBID_ENST00000606253.1_5'UTR|NFKBID_ENST00000396901.1_5'UTR			Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	0					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						GAAATTTTCGGCAGCAGAAGC	0.597													24	28					0	0	0	0	C	36388629	G	C	36388629	3	2	304	1	0	0	0	0	1	0	0	0	10449	1218	42	4		4	NFKBID	19	36388629	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	14911557	36388629	22740354	299	54668											
THAP8	199745	broad.mit.edu	37	chr19	36530944	36530944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcaggagggtgtgaagtgctCgctgcacaagtgctggtggc	7	8	18	8	1	0	1	0	1	0	0	1	2	0	2	0	4	3	5	0	4	2	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:36530944C>G	ENST00000292894.1	-	2	722	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	THAP8_ENST00000538849.1_Intron|AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000524106.1_5'UTR	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	60							DNA binding|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGAAGTGCTCGCTGCACAAG	0.652													23	54					0	0	0	0	G	36530944	C	G	36530944	3	3	304	1	0	0	0	0	1	0	0	0	15944	893	31	3	658	3	THAP8	19	36530944	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	142315	36530944	22598039	300	54669											
ZNF567	163081	broad.mit.edu	37	chr19	37203316	37203316	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttcaatgatgtgactgTggacttcactcaggaggagt	9	13	12	7	0	4	2	3	2	1	0	4	5	4	5	0	3	0	0	0	3	1	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:37203316T>C	ENST00000536254.2	+	4	260	c.38T>C	c.(37-39)gTg>gCg	p.V13A	ZNF567_ENST00000360729.4_5'UTR|ZNF567_ENST00000392163.2_5'UTR|ZNF567_ENST00000585696.1_5'UTR|ZNF567_ENST00000588311.1_5'UTR			Q8N184	ZN567_HUMAN	zinc finger protein 567	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GATGTGACTGTGGACTTCACT	0.468													5	37					0	0	0	0	C	37203316	T	C	37203316	3	2	304	1	0	0	0	0	1	0	0	0	18093	1711	59	5		5	ZNF567	19	37203316	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	672372	37203316	21925667	301	54670											
CYP2A7	1549	broad.mit.edu	37	chr19	41388039	41388039	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccccctgctcttcctcTgctgccagacagacatcaag	7	10	7	17	0	3	2	1	0	2	2	5	2	5	2	4	0	3	3	4	0	1	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:41388039T>A	ENST00000301146.4	-	1	618	c.77A>T	c.(76-78)cAg>cTg	p.Q26L	CYP2A7_ENST00000291764.3_Missense_Mutation_p.Q26L|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	26						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCTCTTCCTCTGCTGCCAGAC	0.572													33	25					0	0	0	0	A	41388039	T	A	41388039	3	1	304	1	0	0	0	0	1	0	0	0	4195	1580	55	5	1453	5	CYP2A7	19	41388039	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	4184723	41388039	17740944	302	54671											
AXL	558	broad.mit.edu	37	chr19	41754431	41754431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcatgcagtgaacagcctggGcatcagtgaagagctgaagg	12	6	15	8	0	1	4	1	3	0	1	1	4	1	4	1	2	4	4	1	2	3	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:41754431G>A	ENST00000301178.4	+	13	1740	c.1550G>A	c.(1549-1551)gGc>gAc	p.G517D	AXL_ENST00000593513.1_Missense_Mutation_p.G249D|AXL_ENST00000359092.3_Missense_Mutation_p.G508D	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	517						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AACAGCCTGGGCATCAGTGAA	0.582													30	39					0	0	0	0	A	41754431	G	A	41754431	3	1	304	1	0	0	0	0	1	0	0	0	1242	1203	42	4	1600	4	AXL	19	41754431	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	366392	41754431	17374552	303	54672											
GRIK5	2901	broad.mit.edu	37	chr19	42563568	42563568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggacaccttgtcatcaCggatctccttgagcagtggt	7	12	12	10	1	3	1	2	1	1	0	4	3	3	3	2	4	1	1	2	4	0	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:42563568C>A	ENST00000262895.3	-	5	619	c.620G>T	c.(619-621)cGt>cTt	p.R207L	GRIK5_ENST00000593562.1_Missense_Mutation_p.R207L|GRIK5_ENST00000301218.4_Missense_Mutation_p.R207L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	207						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTTGTCATCACGGATCTCCTT	0.572													32	73					3.86903e-22	5.31489e-22	1	0	A	42563568	C	A	42563568	3	1	304	1	0	0	0	0	1	0	0	0	6827	536	19	3	2382	3	GRIK5	19	42563568	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	809137	42563568	16565415	304	54673											
ZNF225	7768	broad.mit.edu	37	chr19	44635982	44635982	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcaaatgtgaagaatgTgggaagggattttatacaaa	17	11	10	3	0	1	2	1	1	0	1	1	4	1	4	0	2	1	0	0	2	7	4			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:44635982T>A	ENST00000262894.6	+	5	1495	c.1215T>A	c.(1213-1215)tgT>tgA	p.C405*	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Nonsense_Mutation_p.C405*	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GTGAAGAATGTGGGAAGGGAT	0.428													70	90					0	0	0	0	A	44635982	T	A	44635982	4	1	304	1	0	0	0	0	0	1	0	0	17874	1702	59	5	1229	5	ZNF225	19	44635982	Nonsense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	2072414	44635982	14493001	305	54674											
CGB2	114336	broad.mit.edu	37	chr19	49536447	49536447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcccatcccgactcccggGgccctcagacaccccgatcc	8	4	8	21	3	1	1	1	0	0	1	4	3	4	1	7	2	1	0	7	2	1	0			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:49536447G>T	ENST00000359342.6	+	3	579	c.461G>T	c.(460-462)gGg>gTg	p.G154V	CTB-60B18.6_ENST00000591656.1_Intron	NM_033378.1	NP_203696.2			chorionic gonadotropin, beta polypeptide 2											large_intestine(1)|lung(1)|stomach(1)	3		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CGACTCCCGGGGCCCTCAGAC	0.632													36	119					6.08268e-21	8.26995e-21	1	0	T	49536447	G	T	49536447	3	4	304	1	0	0	0	0	1	0	0	0	3327	1232	43	4	471	4	CGB2	19	49536447	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	4900465	49536447	9592536	306	54675											
C19orf73	55150	broad.mit.edu	37	chr19	49622086	49622086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaaccattagcctcgtcCgccgggggaaccctgcaggc	8	5	13	15	4	0	0	0	0	0	0	2	2	1	1	5	3	5	1	5	3	3	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:49622086C>A	ENST00000408991.2	-	1	311	c.194G>T	c.(193-195)cGg>cTg	p.R65L		NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	65										large_intestine(1)|lung(2)	3						TAGCCTCGTCCGCCGGGGGAA	0.701													39	50					2.19358e-23	3.08812e-23	1	0	A	49622086	C	A	49622086	3	1	304	1	0	0	0	0	1	0	0	0	1967	652	23	3	199	3	C19orf73	19	49622086	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	85639	49622086	9506897	307	54676											
TSKS	60385	broad.mit.edu	37	chr19	50243139	50243139	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggttgctgagatgatcgTggagggagcacatcttcaag	10	9	15	7	1	2	2	1	2	1	1	3	5	2	4	0	3	2	4	0	3	1	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:50243139T>C	ENST00000246801.3	-	11	1755	c.1673A>G	c.(1672-1674)cAc>cGc	p.H558R	TSKS_ENST00000358830.3_Missense_Mutation_p.H358R	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	558							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GAGATGATCGTGGAGGGAGCA	0.607													26	121					0	0	0	0	C	50243139	T	C	50243139	3	2	304	1	0	0	0	0	1	0	0	0	16721	1696	59	5	109	5	TSKS	19	50243139	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	621053	50243139	8885844	308	54677											
ZNF480	147657	broad.mit.edu	37	chr19	52817498	52817498	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggctttatacaaggatgtGatgttggagaactacaggaa	14	10	13	4	0	0	2	0	1	0	1	0	5	0	4	0	4	3	2	0	4	6	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:52817498G>A	ENST00000595962.1	+	3	231	c.165G>A	c.(163-165)gtG>gtA	p.V55V	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Intron|ZNF480_ENST00000334564.7_Silent_p.V55V|ZNF480_ENST00000490272.1_Intron	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ACAAGGATGTGATGTTGGAGA	0.512													43	195					0	0	0	0	A	52817498	G	A	52817498	2	1	304	1	0	0	0	0	0	0	0	1	18030	1277	45	2		2	ZNF480	19	52817498	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	2574359	52817498	6311485	309	54678											
ZNF160	90338	broad.mit.edu	37	chr19	53577459	53577459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttcacacagctcttcaCagtccagggctctttccctt	7	15	5	14	0	4	0	2	0	2	0	6	0	6	0	2	1	1	2	2	1	1	6			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:53577459C>G	ENST00000601421.1	-	2	973	c.97G>C	c.(97-99)Gtg>Ctg	p.V33L	ZNF160_ENST00000599056.1_Missense_Mutation_p.V69L|ZNF160_ENST00000355147.5_Missense_Mutation_p.V69L|ZNF160_ENST00000418871.1_Missense_Mutation_p.V69L|ZNF160_ENST00000429604.1_Missense_Mutation_p.V69L			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	69	KRAB.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CAGCTCTTCACAGTCCAGGGC	0.463													19	113					0	0	0	0	G	53577459	C	G	53577459	3	3	304	1	0	0	0	0	1	0	0	0	17834	478	17	4	2259	4	ZNF160	19	53577459	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	759961	53577459	5551524	310	54679											
VN1R4	317703	broad.mit.edu	37	chr19	53770125	53770125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctgaagtgttcaccagtAaactattgggattatccaaa	14	11	9	7	0	1	1	1	1	0	0	2	2	2	2	2	2	1	3	2	2	6	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:53770125A>G	ENST00000311170.4	-	1	847	c.794T>C	c.(793-795)tTa>tCa	p.L265S		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	265					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GTTCACCAGTAAACTATTGGG	0.453										HNSCC(26;0.072)			3	52					0	0	0	0	G	53770125	A	G	53770125	3	3	304	1	0	0	0	0	1	0	0	0	17276	372	13	5	114	5	VN1R4	19	53770125	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	192666	53770125	5358858	311	54680											
LILRB1	10859	broad.mit.edu	37	chr19	55142479	55142479	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctctctatcctgccagcaCcgagggctcatccatccaca	8	9	7	17	1	3	0	1	0	2	0	7	1	6	0	5	1	2	2	5	1	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:55142479C>T	ENST00000427581.2	+	1	396	c.63C>T	c.(61-63)caC>caT	p.H21H	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000324602.7_5'UTR|LILRB1_ENST00000434867.2_5'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396331.1_5'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000396332.4_5'UTR|LILRB1_ENST00000396327.3_5'UTR			Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	0					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTGCCAGCACCGAGGGCTCA	0.582										HNSCC(37;0.09)			36	53					0	0	0	0	T	55142479	C	T	55142479	2	4	304	1	0	0	0	0	0	0	0	1	8844	522	18	4		4	LILRB1	19	55142479	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1372354	55142479	3986504	312	54681											
ZNF419	79744	broad.mit.edu	37	chr19	58005445	58005445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatcgaaggattcacactgGagaaatgcagtgattgtgtg	13	10	12	6	1	1	2	1	1	0	1	2	5	1	3	0	2	1	1	0	2	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:58005445G>T	ENST00000424930.2	+	5	1752	c.1523G>T	c.(1522-1524)gGa>gTa	p.G508V	ZNF419_ENST00000442920.2_Missense_Mutation_p.G494V|ZNF419_ENST00000415379.2_Missense_Mutation_p.G461V|ZNF419_ENST00000426954.2_Missense_Mutation_p.G495V|ZNF419_ENST00000354197.4_Missense_Mutation_p.G439V|ZNF419_ENST00000347466.6_Missense_Mutation_p.G475V|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000221735.7_Missense_Mutation_p.G507V	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		ATTCACACTGGAGAAATGCAG	0.428													22	71					5.26018e-13	6.54637e-13	1	0	T	58005445	G	T	58005445	3	4	304	1	0	0	0	0	1	0	0	0	17991	1174	41	2	1541	2	ZNF419	19	58005445	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	2862966	58005445	1123538	313	54682											
ZNF324B	388569	broad.mit.edu	37	chr19	58967043	58967043	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagccctcgacctgggaCgagctgggcgaggctcttca	7	6	15	13	3	2	0	1	0	1	0	3	5	2	2	2	4	2	2	2	4	0	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:58967043C>T	ENST00000391696.1	+	3	1634	c.702C>T	c.(700-702)gaC>gaT	p.D234D	ZNF324B_ENST00000336614.4_Silent_p.D244D|ZNF324B_ENST00000545523.1_Silent_p.D244D			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGACCTGGGACGAGCTGGGCG	0.637													3	31					0	0	0	0	T	58967043	C	T	58967043	2	4	304	1	0	0	0	0	0	0	0	1	17940	535	19	1		1	ZNF324B	19	58967043	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	961598	58967043	161940	314	54683											
PTPRA	5786	broad.mit.edu	37	chr20	3017843	3017843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgtgccctgagcaccGtcctggagcgtgtgaaagca	7	9	12	13	2	1	2	0	2	1	0	2	3	2	3	4	1	4	2	4	1	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr20:3017843G>A	ENST00000216877.6	+	22	2615	c.2215G>A	c.(2215-2217)Gtc>Atc	p.V739I	PTPRA_ENST00000399903.2_Missense_Mutation_p.V748I|PTPRA_ENST00000356147.3_Missense_Mutation_p.V739I|PTPRA_ENST00000358719.4_Missense_Mutation_p.V604I|PTPRA_ENST00000380393.3_Missense_Mutation_p.V748I|PTPRA_ENST00000318266.5_Missense_Mutation_p.V739I|PTPRA_ENST00000425918.2_Missense_Mutation_p.V759I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	748	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCTGAGCACCGTCCTGGAGCG	0.592													15	56					0	0	0	0	A	3017843	G	A	3017843	3	1	304	1	0	0	0	0	1	0	0	0	12877	1145	40	1	2320	1	PTPRA	20	3017843	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08		3017843	60007677	315	54684											
SSTR4	6754	broad.mit.edu	37	chr20	23017157	23017157	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggaggagcccctggactActatgccactgctctcaaga	10	8	11	12	0	1	2	1	1	1	1	2	5	1	5	3	3	4	1	3	3	3	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr20:23017157A>C	ENST00000255008.3	+	1	1101	c.1037A>C	c.(1036-1038)tAc>tCc	p.Y346S	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	346					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCCCTGGACTACTATGCCACT	0.642													47	66					0	0	0	0	C	23017157	A	C	23017157	3	2	304	1	0	0	0	0	1	0	0	0	15290	391	14	5	1039	5	SSTR4	20	23017157	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	19999314	23017157	40008363	316	54685											
SLC12A5	57468	broad.mit.edu	37	chr20	44686242	44686242	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcatcaccatctactccTgagaaccaggacctgccacc	11	7	7	16	0	3	1	2	1	1	1	4	3	4	2	6	2	3	0	6	2	2	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr20:44686242T>A	ENST00000454036.1	+	26	3494	c.3418T>A	c.(3418-3420)Tga>Aga	p.*1140R	SLC12A5_ENST00000243964.3_Nonstop_Mutation_p.*1117R	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	0					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATCTACTCCTGAGAACCAGG	0.701													109	66					0	0	0	0	A	44686242	T	A	44686242	4	1	304	1	0	0	0	0	0	0	0	0	14474	1593	55	5	3576	5	SLC12A5	20	44686242	Nonstop_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	21669085	44686242	18339278	317	54686											
DIDO1	11083	broad.mit.edu	37	chr20	61512638	61512638	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcctgccgggggtccctgTggtttgacgcctggctggcg	1	10	17	13	4	0	1	0	1	0	0	2	1	1	1	4	5	1	2	4	5	0	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr20:61512638T>C	ENST00000266070.4	-	16	4995	c.4670A>G	c.(4669-4671)cAc>cGc	p.H1557R	DIDO1_ENST00000395343.1_Missense_Mutation_p.H1557R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1557					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGGGTCCCTGTGGTTTGACGC	0.692													104	66					0	0	0	0	C	61512638	T	C	61512638	3	2	304	1	0	0	0	0	1	0	0	0	4559	1696	59	5	2056	5	DIDO1	20	61512638	Missense_Mutation	SNP	T	TCGA-CV-7409-01A-31D-2229-08	16826396	61512638	1512882	318	54687											
ANKRD54	129138	broad.mit.edu	37	chr22	38228672	38228672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtactggtcatctgcaggCgggtgcagaggtcatccagg	7	9	16	9	1	3	1	2	0	1	1	4	1	4	1	1	6	3	3	1	6	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr22:38228672C>T	ENST00000215941.4	-	7	992	c.800G>A	c.(799-801)cGc>cAc	p.R267H	ANKRD54_ENST00000406423.1_Missense_Mutation_p.R147H|ANKRD54_ENST00000411961.2_Missense_Mutation_p.R251H|ANKRD54_ENST00000498417.1_5'UTR	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	267										lung(1)	1	Melanoma(58;0.045)					CATCTGCAGGCGGGTGCAGAG	0.617													30	21					0	0	0	0	T	38228672	C	T	38228672	3	4	304	1	0	0	0	0	1	0	0	0	679	768	27	1	110	1	ANKRD54	22	38228672	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08		38228672	13075894	319	54688											
NAGA	4668	broad.mit.edu	37	chr22	42461771	42461771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcattccagtgcccagggcCggccactggctgcagtatgt	6	9	13	13	1	1	0	1	0	0	0	2	0	2	0	4	3	2	3	4	3	1	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr22:42461771C>A	ENST00000396398.3	-	6	1262	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	NAGA_ENST00000403363.1_Missense_Mutation_p.G244C|NAGA_ENST00000402937.1_Missense_Mutation_p.G244C	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	244					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGCCCAGGGCCGGCCACTGGC	0.602													10	16					0.000442599	0.000469818	1	0	A	42461771	C	A	42461771	3	1	304	1	0	0	0	0	1	0	0	0	10211	652	23	3	521	3	NAGA	22	42461771	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	4233099	42461771	8842795	320	54689											
KLHDC7B	113730	broad.mit.edu	37	chr22	50987549	50987549	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccctgtgtccctgcctctAcctgcgcacctgcatgtgtt	3	12	9	17	1	1	0	0	0	1	0	2	0	2	0	6	0	4	3	6	0	1	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr22:50987549A>G	ENST00000395676.2	+	1	1088	c.954A>G	c.(952-954)ctA>ctG	p.L318L		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	318										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTGCCTCTACCTGCGCACC	0.721													29	45					0	0	0	0	G	50987549	A	G	50987549	2	3	304	1	0	0	0	0	0	0	0	1	8413	378	14	5		5	KLHDC7B	22	50987549	Silent	SNP	A	TCGA-CV-7409-01A-31D-2229-08	8525778	50987549	317017	321	54690											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998998	27998998	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggacttgccagcgagatcGgggcagggcagatgtctctg	9	7	16	9	2	1	2	0	0	1	2	3	4	1	3	1	4	2	2	1	4	1	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:27998998G>C	ENST00000441525.1	-	1	568	c.454C>G	c.(454-456)Cga>Gga	p.R152G		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	152										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CAGCGAGATCGGGGCAGGGCA	0.567													4	6					0	0	0	0	C	27998998	G	C	27998998	3	2	304	1	0	0	0	0	1	0	0	0	4310	1124	39	3	1352	3	DCAF8L1	23	27998998	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08		27998998	127271562	322	54691											
MAGEB3	4114	broad.mit.edu	37	chrX	30254871	30254871	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaattcctgtggggtcCaagagcccatgctgaaacca	11	9	10	11	0	0	3	0	2	0	1	2	3	2	3	4	2	3	1	4	2	4	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:30254871C>G	ENST00000361644.2	+	5	1567	c.830C>G	c.(829-831)cCa>cGa	p.P277R	MAGEB3_ENST00000378986.1_Missense_Mutation_p.P277R	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	277	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CTGTGGGGTCCAAGAGCCCAT	0.498													15	14					0	0	0	0	G	30254871	C	G	30254871	3	3	304	1	0	0	0	0	1	0	0	0	9246	594	21	4	832	4	MAGEB3	23	30254871	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	2255873	30254871	125015689	323	54692											
FAM47C	442444	broad.mit.edu	37	chrX	37026872	37026872	+	Missense_Mutation	SNP	C	C	G																															ccagctgatgaccaagcatcCcttggccatgtaccccaatc																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:37026872C>G	ENST00000358047.3	+	1	441	c.389C>G	c.(388-390)cCc>cGc	p.P130R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	130										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACCAAGCATCCCTTGGCCATG	0.572													17	16					0	0	0	0	G	37026872	C	G	37026872	3	3	304	1	0	0	0	0	1	0	0	0	5618	623	22	4	391	4	FAM47C	23	37026872	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	6772001	37026872	118243688	324	54693	446	2									
FAM47C	442444	broad.mit.edu	37	chrX	37026873	37026873	+	Silent	SNP	C	C	A																															cagctgatgaccaagcatccCttggccatgtaccccaatct																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:37026873C>A	ENST00000358047.3	+	1	442	c.390C>A	c.(388-390)ccC>ccA	p.P130P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	130										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGCATCCCTTGGCCATGT	0.567													16	17					8.00594e-06	8.80432e-06	1	0	A	37026873	C	A	37026873	2	1	304	1	0	0	0	0	0	0	0	1	5618	668	24	4		4	FAM47C	23	37026873	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1	37026873	118243687	325	54694	446	2									
ZNF81	347344	broad.mit.edu	37	chrX	47775780	47775780	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagaattcatactacaGagaagccttataaatgtcct	16	11	6	8	0	2	2	2	0	0	2	3	4	3	2	2	0	3	0	2	0	7	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:47775780G>T	ENST00000376954.1	+	6	2103	c.1735G>T	c.(1735-1737)Gag>Tag	p.E579*	ZNF81_ENST00000338637.7_Nonsense_Mutation_p.E579*			P51508	ZNF81_HUMAN	zinc finger protein 81	579						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCATACTACAGAGAAGCCTTA	0.418													13	18					0.000151284	0.000162764	1	0	T	47775780	G	T	47775780	4	4	304	1	0	0	0	0	0	1	0	0	18267	943	33	2	1749	2	ZNF81	23	47775780	Nonsense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	10748907	47775780	107494780	326	54695											
GAGE2A	729447	broad.mit.edu	37	chrX	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgctcaggagggaCaggatgagggagcatctgca	10	6	16	9	0	2	1	1	1	1	0	2	5	2	5	0	4	5	5	0	4	0	0	rs147803166	by1000genomes	TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562													5	331					0	0	0	0	G	49355893	C	G	49355893	3	3	304	1	0	0	0	0	1	0	0	0	6238	479	17	4	1282	4	GAGE2A	23	49355893	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	1580113	49355893	105914667	327	54696											
KDM5C	8242	broad.mit.edu	37	chrX	53239927	53239927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaggctgagaagaccatgCccacgtagagccagggcacc	14	3	12	12	1	0	3	0	1	0	3	0	4	0	3	4	2	2	3	4	2	4	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:53239927C>A	ENST00000452825.3	-	9	1845	c.1313G>T	c.(1312-1314)gGc>gTc	p.G438V	KDM5C_ENST00000404049.3_Missense_Mutation_p.G504V|KDM5C_ENST00000375383.3_Missense_Mutation_p.G464V|KDM5C_ENST00000375401.3_Missense_Mutation_p.G505V|KDM5C_ENST00000375379.3_Missense_Mutation_p.G505V	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	505					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GAAGACCATGCCCACGTAGAG	0.517			"N, F, S"		clear cell renal carcinoma								14	5					0.00185496	0.00193286	1	0	A	53239927	C	A	53239927	3	1	304	1	0	0	0	0	1	0	0	0	8187	739	26	4	3330	4	KDM5C	23	53239927	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	3884034	53239927	102030633	328	54697											
AR	367	broad.mit.edu	37	chrX	66905872	66905872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacagaagtacctgtgcGccagcagaaatgattgcact	14	7	11	9	1	0	3	0	1	0	2	0	4	0	4	2	1	5	3	2	1	4	2	rs137852569		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:66905872G>T	ENST00000374690.3	+	3	2313	c.1789G>T	c.(1789-1791)Gcc>Tcc	p.A597S	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.A597S|AR_ENST00000396044.3_Missense_Mutation_p.A597S|AR_ENST00000396043.2_Missense_Mutation_p.A65S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	596	Interaction with HIPK3 (By similarity).		S -> G (in PAIS; high dissociation rate; associated with P-617 in a PAIS patient; partially restores DNA-binding activity of P-617 mutant receptors).|S -> T (in a patient with severe hypospadias).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GTACCTGTGCGCCAGCAGAAA	0.413									Androgen Insensitivity Syndrome				15	8					1.05317e-09	1.23701e-09	1	0	T	66905872	G	T	66905872	3	4	304	1	0	0	0	0	1	0	0	0	838	1087	38	3	1823	3	AR	23	66905872	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	13665945	66905872	88364688	329	54698											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-																															ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc																										TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													7	37	---	---	---	---					-	72433666	TCC	-	72433664	7	5	304	1	0	1	0	1	0	0	0	0	10227	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-CV-7409-01A-31D-2229-08	5527792	72433664	82836896	330	54699											
CSTF2	1478	broad.mit.edu	37	chrX	100087825	100087825	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggggagggccattaccCgagcccagacctctaatggc	9	6	13	13	1	1	2	0	1	1	1	1	4	1	3	4	4	2	0	4	4	2	2			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:100087825C>T	ENST00000415585.2	+	11	1216	c.1194C>T	c.(1192-1194)ccC>ccT	p.P398P	CSTF2_ENST00000486615.1_3'UTR|CSTF2_ENST00000372972.2_Silent_p.P378P			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	378	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GGCCATTACCCGAGCCCAGAC	0.582													15	4					0	0	0	0	T	100087825	C	T	100087825	2	4	304	1	0	0	0	0	0	0	0	1	4016	639	23	1		1	CSTF2	23	100087825	Silent	SNP	C	TCGA-CV-7409-01A-31D-2229-08	27654161	100087825	55182735	331	54700											
BHLHB9	80823	broad.mit.edu	37	chrX	102004119	102004119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcagtgtctaagaacaagGttgttgctgagacgaaggaa	14	8	14	5	1	1	2	0	1	1	2	1	5	1	3	0	3	2	4	0	3	5	3			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:102004119G>A	ENST00000372735.1	+	4	781	c.196G>A	c.(196-198)Gtt>Att	p.V66I	BHLHB9_ENST00000448867.1_Missense_Mutation_p.V66I|BHLHB9_ENST00000361229.4_Missense_Mutation_p.V66I|BHLHB9_ENST00000447531.1_Missense_Mutation_p.V66I|BHLHB9_ENST00000457056.1_Missense_Mutation_p.V66I			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	66						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TAAGAACAAGGTTGTTGCTGA	0.517													43	8					0	0	0	0	A	102004119	G	A	102004119	3	1	304	1	0	0	0	0	1	0	0	0	1425	1261	44	4	198	4	BHLHB9	23	102004119	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	1916294	102004119	53266441	332	54701											
PLS3	5358	broad.mit.edu	37	chrX	114856588	114856588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacggattcatttgtgactAtgaacttcatgagctcttca	11	14	7	9	1	4	3	3	3	1	0	4	4	4	4	0	1	3	1	0	1	3	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:114856588A>G	ENST00000420625.2	+	3	238	c.104A>G	c.(103-105)tAt>tGt	p.Y35C	PLS3_ENST00000539310.1_5'UTR|PLS3_ENST00000537301.1_Missense_Mutation_p.Y13C|PLS3_ENST00000355899.3_Missense_Mutation_p.Y35C|PLS3_ENST00000289290.3_5'UTR	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	35	EF-hand 1.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						ATTTGTGACTATGAACTTCAT	0.353													23	29					0	0	0	0	G	114856588	A	G	114856588	3	3	304	1	0	0	0	0	1	0	0	0	12180	449	16	5	110	5	PLS3	23	114856588	Missense_Mutation	SNP	A	TCGA-CV-7409-01A-31D-2229-08	12852469	114856588	40413972	333	54702											
C1GALT1C1	29071	broad.mit.edu	37	chrX	119760791	119760798	+	Frame_Shift_Del	DEL	GGGTTTTA	GGGTTTTA	-																															gcccaaagactcacatctttGggttttacaaggataataca																								rs56255076		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:119760791_119760798delGGGTTTTA	ENST00000304661.5	-	2	462_469	c.224_231delTAAAACCC	c.(223-231)gfs	p.VKP75fs	C1GALT1C1_ENST00000371313.2_Frame_Shift_Del_p.VKP75fs	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	75						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						TCACATCTTTGGGTTTTACAAGGATAAT	0.399													33	10	---	---	---	---					-	119760798	GGGTTTTA	-	119760791	7	5	304	1	0	1	0	1	0	0	0	0	1972	1335	47	0	729	0	C1GALT1C1	23	119760791	Frame_Shift_Del	DEL	GGGTTTTA	TCGA-CV-7409-01A-31D-2229-08	4904203	119760791	35509769	334	54703											
VGLL1	51442	broad.mit.edu	37	chrX	135630910	135630910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctaggagggcctctgttcGgcctggggagctgtggcatt	4	10	18	9	1	1	0	0	0	1	0	2	2	1	2	2	7	1	4	2	7	1	3	rs140464879	byFrequency	TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:135630910G>T	ENST00000370634.3	+	3	547	c.377G>T	c.(376-378)cGg>cTg	p.R126L		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GCCTCTGTTCGGCCTGGGGAG	0.622													94	60					8.34767e-46	1.27955e-45	1	0	T	135630910	G	T	135630910	3	4	304	1	0	0	0	0	1	0	0	0	17254	1116	39	3	383	3	VGLL1	23	135630910	Missense_Mutation	SNP	G	TCGA-CV-7409-01A-31D-2229-08	15870119	135630910	19639650	335	54704											
CD40LG	959	broad.mit.edu	37	chrX	135741519	135741519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtcaatgtgactgatcCaagccaagtgagccatggca	11	10	11	9	0	1	3	1	3	0	0	2	3	2	3	3	1	2	2	3	1	3	1			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:135741519C>A	ENST00000370629.2	+	5	787	c.731C>A	c.(730-732)cCa>cAa	p.P244Q	CD40LG_ENST00000370628.2_Missense_Mutation_p.P223Q	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	244					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	GTGACTGATCCAAGCCAAGTG	0.522									Immune Deficiency with Hyper-IgM				86	26					4.41824e-40	6.72046e-40	1	0	A	135741519	C	A	135741519	3	1	304	1	0	0	0	0	1	0	0	0	3045	594	21	4	749	4	CD40LG	23	135741519	Missense_Mutation	SNP	C	TCGA-CV-7409-01A-31D-2229-08	110609	135741519	19529041	336	54705											
RAB39B	116442	broad.mit.edu	37	chrX	154490409	154490409	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagggctgaacgtgtactttGgtctcttctaaccactcatg	8	14	9	10	1	3	1	1	1	2	0	4	1	3	1	1	2	3	2	1	2	4	5			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:154490409G>T	ENST00000369454.3	-	2	621	c.321C>A	c.(319-321)acC>acA	p.T107T		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	107					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	p.T107T(1)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGTGTACTTTGGTCTCTTCTA	0.493													127	47					6.69922e-78	1.06384e-77	1	0	T	154490409	G	T	154490409	2	4	304	1	0	0	0	0	0	0	0	1	13012	1335	47	4		4	RAB39B	23	154490409	Silent	SNP	G	TCGA-CV-7409-01A-31D-2229-08	18748890	154490409	780151	337	54706											
MMEL1	79258	broad.mit.edu	37	chr1	2538485	2538485	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagatgtccagcaggggctGagagcctcgcttctctatca	9	9	11	12	1	2	2	1	1	1	2	5	3	3	2	2	2	2	3	2	2	2	2			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:2538485G>C	ENST00000288709.6	-	7	772	c.532C>G	c.(532-534)Cag>Gag	p.Q178E	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Missense_Mutation_p.Q187E	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	187					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AGCAGGGGCTGAGAGCCTCGC	0.652													3	36					0	0	0	0	C	2538485	G	C	2538485	3	2	305	1	0	0	0	0	1	0	0	0	9715	1299	45	2	1852	2	MMEL1	1	2538485	Missense_Mutation	SNP	G	TCGA-CV-7410-01A-21D-2078-08		2538485	246712136	1	54707											
SPEN	23013	broad.mit.edu	37	chr1	16257698	16257698	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcagccccatcagcactaGagaagaccactggtgacaaa	16	5	8	12	0	2	3	2	1	0	2	2	4	2	3	3	1	2	1	3	1	4	1			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:16257698G>C	ENST00000375759.3	+	11	5167	c.4963G>C	c.(4963-4965)Gag>Cag	p.E1655Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1655					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCAGCACTAGAGAAGACCAC	0.493													7	148					0	0	0	0	C	16257698	G	C	16257698	3	2	305	1	0	0	0	0	1	0	0	0	15128	943	33	2	5005	2	SPEN	1	16257698	Missense_Mutation	SNP	G	TCGA-CV-7410-01A-21D-2078-08	13719213	16257698	232992923	2	54708											
UTP11L	51118	broad.mit.edu	37	chr1	38484759	38484759	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactaaaatcagagctccAtctgctggatttccagggga	13	9	10	9	0	2	2	1	0	1	2	4	4	4	4	2	3	2	2	2	3	3	2			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:38484759A>T	ENST00000373014.4	+	5	432	c.371A>T	c.(370-372)cAt>cTt	p.H124L	UTP11L_ENST00000537711.1_Missense_Mutation_p.H124L|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	124					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCAGAGCTCCATCTGCTGGAT	0.363													4	58					0	0	0	0	T	38484759	A	T	38484759	3	4	305	1	0	0	0	0	1	0	0	0	17190	217	8	5	389	5	UTP11L	1	38484759	Missense_Mutation	SNP	A	TCGA-CV-7410-01A-21D-2078-08	22227061	38484759	210765862	3	54709											
CTBS	1486	broad.mit.edu	37	chr1	85029046	85029046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcacctgacgtcctgcaGcgtcactacaaggagccccc	9	5	11	16	2	1	1	1	1	0	0	2	2	2	2	4	2	4	2	4	2	2	1			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:85029046G>T	ENST00000370630.4	-	6	899	c.851C>A	c.(850-852)gCt>gAt	p.A284D	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	284						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ACGTCCTGCAGCGTCACTACA	0.408													4	38					0.00024832	0.000264086	1	0	T	85029046	G	T	85029046	3	4	305	1	0	0	0	0	1	0	0	0	4031	971	34	4	314	4	CTBS	1	85029046	Missense_Mutation	SNP	G	TCGA-CV-7410-01A-21D-2078-08	46544287	85029046	164221575	4	54710											
SPTA1	6708	broad.mit.edu	37	chr1	158646059	158646059	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatgggaaagtgtcagcttCtctgctttagcacataactc	10	12	10	9	0	2	0	1	0	1	0	4	2	2	2	0	2	4	3	0	2	3	4			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:158646059C>T	ENST00000368148.3	-	8	1164	c.984G>A	c.(982-984)gaG>gaA	p.E328E	SPTA1_ENST00000368147.3_Silent_p.E328E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	328					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E328E(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTGTCAGCTTCTCTGCTTTAG	0.498													6	146					0	0	0	0	T	158646059	C	T	158646059	2	4	305	1	0	0	0	0	0	0	0	1	15206	912	32	2		2	SPTA1	1	158646059	Silent	SNP	C	TCGA-CV-7410-01A-21D-2078-08	73617013	158646059	90604562	5	54711											
TTN	7273	broad.mit.edu	37	chr2	179635016	179635016	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggcattttccaaggctgtCacatcctttggctttttaat	7	17	8	9	0	1	0	1	0	0	0	3	0	3	0	2	3	0	3	2	3	2	6			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr2:179635016C>G	ENST00000589042.1	-	36	8636	c.8412G>C	c.(8410-8412)gtG>gtC	p.V2804V	TTN_ENST00000342175.6_Silent_p.V2758V|TTN_ENST00000591111.1_Silent_p.V2804V|TTN_ENST00000359218.5_Silent_p.V2758V|TTN_ENST00000342992.6_Silent_p.V2804V|TTN_ENST00000360870.5_Silent_p.V2804V|TTN_ENST00000460472.2_Silent_p.V2758V|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2542							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)			CCAAGGCTGTCACATCCTTTG	0.408													6	99					0	0	0	0	G	179635016	C	G	179635016	2	3	305	1	0	0	0	0	0	0	0	1	16831	813	29	2		2	TTN	2	179635016	Silent	SNP	C	TCGA-CV-7410-01A-21D-2078-08		179635016	63564357	6	54712											
TTN	7273	broad.mit.edu	37	chr2	179638098	179638098	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgataattttaatttcTggggaaaaaataaaataatc	17	14	5	5	0	2	1	0	1	2	0	3	2	2	2	1	2	0	0	1	2	8	6			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr2:179638098T>C	ENST00000589042.1	-	33	7819		c.e33-2		TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000360870.5_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			TTTTAATTTCTGGGGAAAAAA	0.348													6	39					0	0	0	0	C	179638098	T	C	179638098	5	2	305	1	0	0	0	0	0	0	1	0	16831	1594	55	5	103715	5	TTN	2	179638098	Splice_Site	SNP	T	TCGA-CV-7410-01A-21D-2078-08	3082	179638098	63561275	7	54713											
SLC40A1	30061	broad.mit.edu	37	chr2	190430213	190430213	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggataccaagttccatccCgaaataaagccacagccgat	15	7	7	12	2	0	0	0	0	0	0	2	3	2	1	5	1	3	1	5	1	5	3			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr2:190430213C>T	ENST00000261024.2	-	6	1053	c.627G>A	c.(625-627)tcG>tcA	p.S209S		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	209					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AGTTCCATCCCGAAATAAAGC	0.488													4	53					0	0	0	0	T	190430213	C	T	190430213	2	4	305	1	0	0	0	0	0	0	0	1	14716	639	23	1		1	SLC40A1	2	190430213	Silent	SNP	C	TCGA-CV-7410-01A-21D-2078-08	10792115	190430213	52769160	8	54714											
SPP2	6694	broad.mit.edu	37	chr2	234975872	234975872	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattactgtgttacaggtctCatttcagacgagtccataag	11	14	8	8	1	2	1	2	0	1	1	4	2	3	1	1	1	2	1	1	1	4	5			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr2:234975872C>T	ENST00000168148.3	+	6	592	c.504C>T	c.(502-504)ctC>ctT	p.L168L	SPP2_ENST00000373368.1_Silent_p.L168L	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	168					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TTACAGGTCTCATTTCAGACG	0.393													4	76					0	0	0	0	T	234975872	C	T	234975872	2	4	305	1	0	0	0	0	0	0	0	1	15177	813	29	2		2	SPP2	2	234975872	Silent	SNP	C	TCGA-CV-7410-01A-21D-2078-08	44545659	234975872	8223501	9	54715											
RHOA	387	broad.mit.edu	37	chr3	49412905	49412905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatatctgccacatagttctCaaacactgtgggcacataca	13	10	7	11	0	2	0	1	0	2	0	3	1	2	0	1	1	3	2	1	1	4	4			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr3:49412905C>G	ENST00000418115.1	-	2	502	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q|RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	40					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	p.E40Q(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ACATAGTTCTCAAACACTGTG	0.438													8	84					0	0	0	0	G	49412905	C	G	49412905	3	3	305	1	0	0	0	0	1	0	0	0	13414	835	29	2	479	2	RHOA	3	49412905	Missense_Mutation	SNP	C	TCGA-CV-7410-01A-21D-2078-08		49412905	148609525	10	54716											
MCM2	4171	broad.mit.edu	37	chr3	127335797	127335797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcagtttctcaagtatattGagaaagtgtccagccgagcc	11	10	10	10	2	1	1	1	1	1	1	3	3	2	1	3	0	2	3	3	0	4	4			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr3:127335797G>A	ENST00000265056.7	+	10	1853	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	537	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CAAGTATATTGAGAAAGTGTC	0.597													8	105					0	0	0	0	A	127335797	G	A	127335797	3	1	305	1	0	0	0	0	1	0	0	0	9455	1291	45	2	1647	2	MCM2	3	127335797	Missense_Mutation	SNP	G	TCGA-CV-7410-01A-21D-2078-08	77922892	127335797	70686633	11	54717											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	51					0	0	0	0	A	178936091	G	A	178936091	3	1	305	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CV-7410-01A-21D-2078-08	51600294	178936091	19086339	12	54718											
SMR3B	10879	broad.mit.edu	37	chr4	71255552	71255552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatatttccaccaccccCtcctcaaccctaaggtccac	10	8	5	18	0	1	0	1	0	0	0	4	1	4	1	7	2	1	0	7	2	3	3			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr4:71255552C>A	ENST00000304915.3	+	3	376	c.227C>A	c.(226-228)cCt>cAt	p.P76H	SMR3B_ENST00000504825.1_Missense_Mutation_p.P76H	NM_006685.3	NP_006676.1			submaxillary gland androgen regulated protein 3B											large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				CCACCACCCCCTCCTCAACCC	0.582													7	70					8.12818e-05	8.92768e-05	1	0	A	71255552	C	A	71255552	3	1	305	1	0	0	0	0	1	0	0	0	14900	681	24	4	233	4	SMR3B	4	71255552	Missense_Mutation	SNP	C	TCGA-CV-7410-01A-21D-2078-08		71255552	119898724	13	54719											
TMEM173	340061	broad.mit.edu	37	chr5	138856034	138856034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagaagctgctgtcatctgCaggttctggaacagggagat	10	9	14	8	1	3	2	1	0	2	2	3	5	3	3	0	3	4	4	0	3	2	1			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr5:138856034C>T	ENST00000330794.4	-	8	1285	c.952G>A	c.(952-954)Gca>Aca	p.A318T		NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	318					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGTCATCTGCAGGTTCTGGA	0.542													5	26					0	0	0	0	T	138856034	C	T	138856034	3	4	305	1	0	0	0	0	1	0	0	0	16183	710	25	4	191	4	TMEM173	5	138856034	Missense_Mutation	SNP	C	TCGA-CV-7410-01A-21D-2078-08		138856034	42059226	14	54720											
PCDHB8	56128	broad.mit.edu	37	chr5	140559562	140559562	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggtcaaggacaatggCgagcctccgtgctcggccac	7	7	14	13	3	1	0	1	0	0	0	3	2	2	1	3	4	3	2	3	4	2	0			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr5:140559562C>T	ENST00000239444.2	+	1	2192	c.1947C>T	c.(1945-1947)ggC>ggT	p.G649G		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		649	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGACAATGGCGAGCCTCCGT	0.706													4	42					0	0	0	0	T	140559562	C	T	140559562	2	4	305	1	0	0	0	0	0	0	0	1	11619	755	27	1		1	PCDHB8	5	140559562	Silent	SNP	C	TCGA-CV-7410-01A-21D-2078-08	1703528	140559562	40355698	15	54721											
BRPF3	27154	broad.mit.edu	37	chr6	36175192	36175192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgctgattgagctgattCggaagagagagaagctcaaa	13	8	14	6	1	1	5	1	3	0	2	2	8	1	6	0	2	3	4	0	2	3	2			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:36175192C>T	ENST00000357641.6	+	4	1961	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	BRPF3_ENST00000534694.1_Missense_Mutation_p.R570W|BRPF3_ENST00000443324.2_Missense_Mutation_p.R570W|BRPF3_ENST00000543502.1_Missense_Mutation_p.R570W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R570W|BRPF3_ENST00000534400.1_Missense_Mutation_p.R570W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	570					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGAGCTGATTCGGAAGAGAGA	0.547													5	27					0	0	0	0	T	36175192	C	T	36175192	3	4	305	1	0	0	0	0	1	0	0	0	1529	875	31	1	1718	1	BRPF3	6	36175192	Missense_Mutation	SNP	C	TCGA-CV-7410-01A-21D-2078-08		36175192	134939875	16	54722											
COL19A1	1310	broad.mit.edu	37	chr6	70637839	70637839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcctgaggagtactcagTagctgccatgtttcgagtac	8	12	10	11	1	1	1	1	1	0	0	3	3	2	2	3	1	4	5	3	1	3	5			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:70637839T>C	ENST00000322773.4	+	5	407	c.305T>C	c.(304-306)gTa>gCa	p.V102A		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	102	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAGTACTCAGTAGCTGCCATG	0.418													15	95					0	0	0	0	C	70637839	T	C	70637839	3	2	305	1	0	0	0	0	1	0	0	0	3706	1638	57	5	319	5	COL19A1	6	70637839	Missense_Mutation	SNP	T	TCGA-CV-7410-01A-21D-2078-08	34462647	70637839	100477228	17	54723											
SIM1	6492	broad.mit.edu	37	chr6	100868694	100868694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggggaagtcctggattttGactttgagctggagagccgg	8	11	16	6	1	0	3	0	2	0	1	1	6	1	5	2	5	2	1	2	5	1	3			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:100868694G>A	ENST00000369208.3	-	10	1921	c.1139C>T	c.(1138-1140)tCa>tTa	p.S380L	SIM1_ENST00000262901.4_Missense_Mutation_p.S380L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	380	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCTGGATTTTGACTTTGAGCT	0.478													4	43					0	0	0	0	A	100868694	G	A	100868694	3	1	305	1	0	0	0	0	1	0	0	0	14411	1294	45	2	1173	2	SIM1	6	100868694	Missense_Mutation	SNP	G	TCGA-CV-7410-01A-21D-2078-08	30230855	100868694	70246373	18	54724											
TAGAP	117289	broad.mit.edu	37	chr6	159457885	159457885	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgtttggtttgtcacccgGctctcgaggcactcctggga	5	12	13	11	2	2	0	1	0	1	0	4	2	3	1	2	4	0	4	2	4	0	2			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:159457885G>A	ENST00000367066.3	-	10	1501	c.1170C>T	c.(1168-1170)agC>agT	p.S390S	RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Silent_p.S212S|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	390					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGTCACCCGGCTCTCGAGGC	0.582													4	50					0	0	0	0	A	159457885	G	A	159457885	2	1	305	1	0	0	0	0	0	0	0	1	15628	1194	42	4		4	TAGAP	6	159457885	Silent	SNP	G	TCGA-CV-7410-01A-21D-2078-08	58589191	159457885	11657182	19	54725											
CCDC129	223075	broad.mit.edu	37	chr7	31683457	31683457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaggcaaagccctggccctGaaccctcagtctgtaggcac	10	6	11	14	0	2	2	1	1	1	1	2	2	2	2	3	3	2	3	3	3	3	1			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:31683457G>A	ENST00000319386.3	+	11	3022	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	CCDC129_ENST00000451887.2_Missense_Mutation_p.E851K|CCDC129_ENST00000409210.1_Missense_Mutation_p.E733K|CCDC129_ENST00000407970.3_Missense_Mutation_p.E825K			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	825										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCCTGGCCCTGAACCCTCAGT	0.567													6	69					0	0	0	0	A	31683457	G	A	31683457	3	1	305	1	0	0	0	0	1	0	0	0	2789	1291	45	2	2511	2	CCDC129	7	31683457	Missense_Mutation	SNP	G	TCGA-CV-7410-01A-21D-2078-08		31683457	127455206	20	54726											
DDC	1644	broad.mit.edu	37	chr7	50611665	50611665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcggcagggatcagcGgccgcaggtacccgggctcc	6	3	18	14	4	1	0	1	0	0	0	2	1	2	1	3	6	3	5	3	6	1	1			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:50611665G>A	ENST00000444124.2	-	2	319	c.119C>T	c.(118-120)cCg>cTg	p.P40L	DDC_ENST00000380984.4_Missense_Mutation_p.P40L|DDC_ENST00000426377.1_Missense_Mutation_p.P40L|DDC_ENST00000357936.5_Missense_Mutation_p.P40L|DDC_ENST00000431062.1_Missense_Mutation_p.P40L	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	40					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AGGGATCAGCGGCCGCAGGTA	0.572													7	141					0	0	0	0	A	50611665	G	A	50611665	3	1	305	1	0	0	0	0	1	0	0	0	4357	1116	39	1	1375	1	DDC	7	50611665	Missense_Mutation	SNP	G	TCGA-CV-7410-01A-21D-2078-08	18928208	50611665	108526998	21	54727											
SEMA3E	9723	broad.mit.edu	37	chr7	82997162	82997162	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggcatcctgtgatgccTgtcctcctcatcgtccttgt	6	13	8	14	1	1	1	1	1	0	0	6	1	5	1	5	1	1	1	5	1	1	1			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:82997162T>A	ENST00000307792.3	-	17	2535	c.2068A>T	c.(2068-2070)Agg>Tgg	p.R690W	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R630W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	690					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTGTGATGCCTGTCCTCCTCA	0.478													6	80					0	0	0	0	A	82997162	T	A	82997162	3	1	305	1	0	0	0	0	1	0	0	0	14115	1579	55	5	263	5	SEMA3E	7	82997162	Missense_Mutation	SNP	T	TCGA-CV-7410-01A-21D-2078-08	32385497	82997162	76141501	22	54728											
TAS2R60	338398	broad.mit.edu	37	chr7	143140947	143140947	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcttcttctggctaaaGcacaagttgtctgggtggct	6	14	11	10	0	4	0	0	0	4	0	4	0	4	0	1	3	1	4	1	3	3	4			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:143140947G>A	ENST00000332690.1	+	1	402	c.402G>A	c.(400-402)aaG>aaA	p.K134K	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	134					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTGGCTAAAGCACAAGTTGT	0.478													11	161					0	0	0	0	A	143140947	G	A	143140947	2	1	305	1	0	0	0	0	0	0	0	1	15676	962	34	4		4	TAS2R60	7	143140947	Silent	SNP	G	TCGA-CV-7410-01A-21D-2078-08	60143785	143140947	15997716	23	54729											
CHRNB3	1142	broad.mit.edu	37	chr8	42586940	42586940	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtttttcccgttcgacCgacagaactgctccatgaag	9	11	8	13	4	1	2	1	1	0	1	4	4	3	2	3	0	2	3	3	0	2	3			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr8:42586940C>T	ENST00000289957.2	+	5	618	c.490C>T	c.(490-492)Cga>Tga	p.R164*		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	164					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCCGTTCGACCGACAGAACTG	0.483													3	30					0	0	0	0	T	42586940	C	T	42586940	4	4	305	1	0	0	0	0	0	1	0	0	3421	644	23	1	508	1	CHRNB3	8	42586940	Nonsense_Mutation	SNP	C	TCGA-CV-7410-01A-21D-2078-08		42586940	103777082	24	54730											
RBM12B	389677	broad.mit.edu	37	chr8	94746334	94746335	+	Frame_Shift_Ins	INS	-	-	TG																															ggcgggcgcctgaaatgctcINStgggggtggccgcctgaagt																										TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr8:94746334_94746335insTG	ENST00000399300.2	-	3	2517_2518	c.2304_2305insCA	c.(2302-2307)ccagcafs	p.A769fs	RBM12B_ENST00000517700.1_Frame_Shift_Ins_p.A649fs|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	769							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTGAAATGCTCTGGGGGTGGCC	0.673													13	81	---	---	---	---					TG	94746335	-	TG	94746334	7	5	305	1	0	1	1	0	0	0	0	0	13196	922	32	0	704	0	RBM12B	8	94746334	Frame_Shift_Ins	INS	-	TCGA-CV-7410-01A-21D-2078-08	52159394	94746334	51617688	25	54731											
COL27A1	85301	broad.mit.edu	37	chr9	117014887	117014887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacagggtgatcgtggcatGatgggacccccaggcgtgcc	7	7	15	12	2	1	2	1	2	0	0	2	3	1	3	3	4	1	1	3	4	0	0			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr9:117014887G>A	ENST00000356083.3	+	26	3439	c.3048G>A	c.(3046-3048)atG>atA	p.M1016I		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1016	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ATCGTGGCATGATGGGACCCC	0.612													9	86					0	0	0	0	A	117014887	G	A	117014887	3	1	305	1	0	0	0	0	1	0	0	0	3715	1290	45	2	3150	2	COL27A1	9	117014887	Missense_Mutation	SNP	G	TCGA-CV-7410-01A-21D-2078-08		117014887	24198544	26	54732											
BEND7	222389	broad.mit.edu	37	chr10	13481367	13481367	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtaaggttgttcaggagcacGagatgctgctcctcccaggg	8	9	14	10	1	1	1	1	0	0	1	3	3	3	2	2	3	3	6	2	3	1	3			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr10:13481367G>C	ENST00000341083.3	-	9	1508	c.1212C>G	c.(1210-1212)ctC>ctG	p.L404L	BEND7_ENST00000396900.2_Silent_p.L455L|BEND7_ENST00000486542.1_5'UTR	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	455							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TCAGGAGCACGAGATGCTGCT	0.527													5	53					0	0	0	0	C	13481367	G	C	13481367	2	2	305	1	0	0	0	0	0	0	0	1	1407	1045	37	3		3	BEND7	10	13481367	Silent	SNP	G	TCGA-CV-7410-01A-21D-2078-08		13481367	122053380	27	54733											
ABCC2	1244	broad.mit.edu	37	chr10	101559038	101559038	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggttgatgaaggctctGttcaaaactttctacatggt	9	15	9	8	0	3	2	1	2	2	0	4	2	4	2	1	3	2	3	1	3	4	4			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr10:101559038G>A	ENST00000370449.4	+	8	1055	c.942G>A	c.(940-942)ctG>ctA	p.L314L		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	314						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGAAGGCTCTGTTCAAAACTT	0.403													8	251					0	0	0	0	A	101559038	G	A	101559038	2	1	305	1	0	0	0	0	0	0	0	1	53	1364	48	4		4	ABCC2	10	101559038	Silent	SNP	G	TCGA-CV-7410-01A-21D-2078-08	88077671	101559038	33975709	28	54734											
OR5D18	219438	broad.mit.edu	37	chr11	55587255	55587255	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgggttgattgtgatcatCaaaatcaaccccaaactgca	14	11	7	9	0	3	2	3	2	0	0	3	2	3	2	2	1	3	2	2	1	4	3			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr11:55587255C>G	ENST00000333976.4	+	1	170	c.150C>G	c.(148-150)atC>atG	p.I50M		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTGTGATCATCAAAATCAACC	0.453													15	127					0	0	0	0	G	55587255	C	G	55587255	3	3	305	1	0	0	0	0	1	0	0	0	11228	816	29	2	152	2	OR5D18	11	55587255	Missense_Mutation	SNP	C	TCGA-CV-7410-01A-21D-2078-08		55587255	79419261	29	54735											
IGHMBP2	3508	broad.mit.edu	37	chr11	68703725	68703725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaagttggttttcttgctGaggaccggaggatcaacgtg	8	12	15	6	2	2	2	1	2	1	0	2	5	2	5	1	4	2	3	1	4	2	4			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr11:68703725G>A	ENST00000255078.3	+	13	1888	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	593					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTTCTTGCTGAGGACCGGAG	0.532													11	136					0	0	0	0	A	68703725	G	A	68703725	3	1	305	1	0	0	0	0	1	0	0	0	7644	1291	45	2	1827	2	IGHMBP2	11	68703725	Missense_Mutation	SNP	G	TCGA-CV-7410-01A-21D-2078-08	13116470	68703725	66302791	30	54736											
LARP4	113251	broad.mit.edu	37	chr12	50869453	50869453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggagctcctgagaactccGttgagaaaccacatgagaag	14	7	11	9	1	0	3	0	3	0	3	2	7	2	4	3	1	3	2	3	1	3	1			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:50869453G>T	ENST00000398473.2	+	16	2093	c.1981G>T	c.(1981-1983)Gtt>Ttt	p.V661F	LARP4_ENST00000293618.8_Missense_Mutation_p.V590F|LARP4_ENST00000518444.1_Missense_Mutation_p.V660F|LARP4_ENST00000347328.5_Missense_Mutation_p.V590F|LARP4_ENST00000429001.3_Missense_Mutation_p.V667F	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	661							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TGAGAACTCCGTTGAGAAACC	0.488													8	115					0.000274275	0.000287132	1	0	T	50869453	G	T	50869453	3	4	305	1	0	0	0	0	1	0	0	0	8683	1145	40	3	2047	3	LARP4	12	50869453	Missense_Mutation	SNP	G	TCGA-CV-7410-01A-21D-2078-08		50869453	82982442	31	54737											
MBD6	114785	broad.mit.edu	37	chr12	57919453	57919454	+	Frame_Shift_Ins	INS	-	-	T																															actggggagctgccctcagaINStccagcctggtgccctctga																										TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:57919453_57919454insT	ENST00000355673.3	+	6	1058_1059	c.702_703insT	c.(700-705)agccagfs	p.Q235fs	MBD6_ENST00000431731.2_Frame_Shift_Ins_p.Q235fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	235	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTGCCCTCAGATCCAGCCTGGT	0.619													9	165	---	---	---	---					T	57919454	-	T	57919453	7	5	305	1	0	1	1	0	0	0	0	0	9417	330	12	0	716	0	MBD6	12	57919453	Frame_Shift_Ins	INS	-	TCGA-CV-7410-01A-21D-2078-08	7050000	57919453	75932442	32	54738											
IRAK3	11213	broad.mit.edu	37	chr12	66641854	66641854	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtaaatatagatccttcttCagaagctccagggcattctt	11	13	8	9	0	3	2	1	0	2	2	5	2	5	2	2	2	1	3	2	2	5	7			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:66641854C>G	ENST00000261233.4	+	12	2115	c.1694C>G	c.(1693-1695)tCa>tGa	p.S565*	IRAK3_ENST00000457197.2_Nonsense_Mutation_p.S504*	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	565					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GATCCTTCTTCAGAAGCTCCA	0.423													12	108					0	0	0	0	G	66641854	C	G	66641854	4	3	305	1	0	0	0	0	0	1	0	0	7877	838	29	2	1740	2	IRAK3	12	66641854	Nonsense_Mutation	SNP	C	TCGA-CV-7410-01A-21D-2078-08	8722401	66641854	67210041	33	54739											
PCDH9	5101	broad.mit.edu	37	chr13	67801363	67801363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaaatgggacctctctttCaataaaacagatcactttgc	14	12	6	9	0	3	2	2	1	1	1	4	3	3	3	1	1	2	0	1	1	4	3			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr13:67801363C>T	ENST00000544246.1	-	2	1901	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	PCDH9_ENST00000377861.3_Missense_Mutation_p.E404K|PCDH9_ENST00000328454.5_Missense_Mutation_p.E404K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E404K|PCDH9_ENST00000377865.2_Missense_Mutation_p.E404K	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	404	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCTCTCTTTCAATAAAACAG	0.378													7	103					0	0	0	0	T	67801363	C	T	67801363	3	4	305	1	0	0	0	0	1	0	0	0	11589	835	29	2	2519	2	PCDH9	13	67801363	Missense_Mutation	SNP	C	TCGA-CV-7410-01A-21D-2078-08		67801363	47368515	34	54740											
POU4F1	5457	broad.mit.edu	37	chr13	79175606	79175606	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctctggttgcaaaaccAcacccgcaccacgttctttt	8	12	6	15	2	2	0	0	0	2	0	3	0	2	0	3	1	2	4	3	1	2	4			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr13:79175606A>C	ENST00000377208.5	-	2	1415	c.1204T>G	c.(1204-1206)Tgg>Ggg	p.W402G	RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	402					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTGCAAAACCACACCCGCACC	0.607													5	71					0	0	0	0	C	79175606	A	C	79175606	3	2	305	1	0	0	0	0	1	0	0	0	12349	159	6	5	59	5	POU4F1	13	79175606	Missense_Mutation	SNP	A	TCGA-CV-7410-01A-21D-2078-08	11374243	79175606	35994272	35	54741											
MYO16	23026	broad.mit.edu	37	chr13	109535433	109535433	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtatttcagctcctcAgggaagctgtgttcctcgct	6	13	10	12	1	2	0	2	0	0	0	5	1	4	1	2	1	3	6	2	1	2	3			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr13:109535433A>T	ENST00000356711.2	+	13	1512	c.1386A>T	c.(1384-1386)tcA>tcT	p.S462S	MYO16_ENST00000251041.5_Silent_p.S462S|MYO16_ENST00000357550.2_Silent_p.S462S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	462	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCAGCTCCTCAGGGAAGCTGT	0.542													7	123					0	0	0	0	T	109535433	A	T	109535433	2	4	305	1	0	0	0	0	0	0	0	1	10134	175	7	5		5	MYO16	13	109535433	Silent	SNP	A	TCGA-CV-7410-01A-21D-2078-08	30359827	109535433	5634445	36	54742											
IQGAP1	8826	broad.mit.edu	37	chr15	91030272	91030272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaccaacaagttcgacGtgcctggagatgagaatgca	12	7	11	11	2	0	3	0	2	0	2	1	6	0	3	3	1	3	2	3	1	3	1			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr15:91030272G>A	ENST00000268182.5	+	32	4235	c.4111G>A	c.(4111-4113)Gtg>Atg	p.V1371M	IQGAP1_ENST00000560738.1_Missense_Mutation_p.V799M	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1371	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CAAGTTCGACGTGCCTGGAGA	0.433													7	66					0	0	0	0	A	91030272	G	A	91030272	3	1	305	1	0	0	0	0	1	0	0	0	7867	1145	40	1	4237	1	IQGAP1	15	91030272	Missense_Mutation	SNP	G	TCGA-CV-7410-01A-21D-2078-08		91030272	11501120	37	54743											
XYLT1	64131	broad.mit.edu	37	chr16	17211720	17211720	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatccacccaaatgacggtCacggtcacattaggtccctt	10	9	9	13	2	2	1	2	1	0	0	4	2	4	2	3	4	0	0	3	4	2	2			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr16:17211720C>T	ENST00000261381.6	-	11	2424	c.2340G>A	c.(2338-2340)gtG>gtA	p.V780V		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	780					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAATGACGGTCACGGTCACAT	0.552													4	65					0	0	0	0	T	17211720	C	T	17211720	2	4	305	1	0	0	0	0	0	0	0	1	17559	813	29	2		2	XYLT1	16	17211720	Silent	SNP	C	TCGA-CV-7410-01A-21D-2078-08		17211720	73143033	38	54744											
SF3B3	23450	broad.mit.edu	37	chr16	70595670	70595670	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgagggcattgtggccatCtccaccaacaccctacggtg	8	7	10	16	2	1	0	0	0	1	0	2	1	1	0	5	3	2	1	5	3	2	2			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr16:70595670C>G	ENST00000302516.5	+	17	2482	c.2271C>G	c.(2269-2271)atC>atG	p.I757M		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	757					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TTGTGGCCATCTCCACCAACA	0.542													6	59					0	0	0	0	G	70595670	C	G	70595670	3	3	305	1	0	0	0	0	1	0	0	0	14239	903	32	2	2333	2	SF3B3	16	70595670	Missense_Mutation	SNP	C	TCGA-CV-7410-01A-21D-2078-08	53383950	70595670	19759083	39	54745											
DHRS7C	201140	broad.mit.edu	37	chr17	9684831	9684831	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccacgctgatcaaggcatCatataggttctctagcctct	10	11	8	12	1	4	1	2	1	2	0	5	1	4	1	2	2	2	3	2	2	4	4			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr17:9684831C>G	ENST00000330255.4	-	2	247	c.235G>C	c.(235-237)Gat>Cat	p.D79H	DHRS7C_ENST00000571134.1_Missense_Mutation_p.D79H	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	79						extracellular region	binding|oxidoreductase activity	p.D79N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ATCAAGGCATCATATAGGTTC	0.547													7	55					0	0	0	0	G	9684831	C	G	9684831	3	3	305	1	0	0	0	0	1	0	0	0	4534	826	29	2	720	2	DHRS7C	17	9684831	Missense_Mutation	SNP	C	TCGA-CV-7410-01A-21D-2078-08		9684831	71510379	40	54746											
CASKIN2	57513	broad.mit.edu	37	chr17	73499573	73499573	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcttgtggtactgtggCagccccagtgcacacagcca	8	8	12	13	0	0	0	0	0	0	0	0	0	0	0	3	2	6	5	3	2	1	2			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr17:73499573C>T	ENST00000321617.3	-	17	2302	c.1716G>A	c.(1714-1716)ctG>ctA	p.L572L	CASKIN2_ENST00000433559.2_Silent_p.L490L	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	572	SAM 2.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGTACTGTGGCAGCCCCAGTG	0.637													4	59					0	0	0	0	T	73499573	C	T	73499573	2	4	305	1	0	0	0	0	0	0	0	1	2692	697	25	4		4	CASKIN2	17	73499573	Silent	SNP	C	TCGA-CV-7410-01A-21D-2078-08	63814742	73499573	7695637	41	54747											
RNF213	57674	broad.mit.edu	37	chr17	78263580	78263580	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagaagtgcagctgctgtGaaaaacgagaaggagcaaaa	19	4	12	6	1	0	3	0	1	0	2	0	5	0	4	0	1	6	4	0	1	7	0			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr17:78263580G>A	ENST00000582970.1	+	6	1199	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	RNF213_ENST00000508628.2_Silent_p.V401V|RNF213_ENST00000319921.4_Silent_p.V352V|RNF213_ENST00000456466.1_Silent_p.V352V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	352										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGCTGCTGTGAAAAACGAGA	0.527													3	24					0	0	0	0	A	78263580	G	A	78263580	2	1	305	1	0	0	0	0	0	0	0	1	13562	1277	45	2		2	RNF213	17	78263580	Silent	SNP	G	TCGA-CV-7410-01A-21D-2078-08	4764007	78263580	2931630	42	54748											
ZNF536	9745	broad.mit.edu	37	chr19	30935293	30935293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccccggcggcgggcttccGctgtaccttctgcaagggca	4	7	15	15	4	1	0	0	0	1	0	2	0	2	0	4	5	2	5	4	5	2	3			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr19:30935293G>A	ENST00000355537.3	+	2	971	c.824G>A	c.(823-825)cGc>cAc	p.R275H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGGGCTTCCGCTGTACCTTC	0.667													3	28					0	0	0	0	A	30935293	G	A	30935293	3	1	305	1	0	0	0	0	1	0	0	0	18069	1087	38	1	826	1	ZNF536	19	30935293	Missense_Mutation	SNP	G	TCGA-CV-7410-01A-21D-2078-08		30935293	28193690	43	54749											
COL20A1	57642	broad.mit.edu	37	chr20	61947987	61947987	+	Frame_Shift_Del	DEL	C	C	-																															gccatggagccctctgccttCggtgggaccccgaccttcac																										TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr20:61947987delC	ENST00000422202.1	+	20	2696	c.2628delC	c.(2626-2628)ttfs	p.F876fs	COL20A1_ENST00000358894.6_Frame_Shift_Del_p.F869fs|COL20A1_ENST00000435874.1_Frame_Shift_Del_p.F876fs|COL20A1_ENST00000326996.6_Frame_Shift_Del_p.F869fs			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	869	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTCTGCCTTCGGTGGGACCC	0.647													2	4	---	---	---	---					-	61947987	C	-	61947987	7	5	305	1	0	1	0	1	0	0	0	0	3709	883	31	0	2685	0	COL20A1	20	61947987	Frame_Shift_Del	DEL	C	TCGA-CV-7410-01A-21D-2078-08		61947987	1077533	44	54750											
MXRA5	25878	broad.mit.edu	37	chrX	3241208	3241208	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtacatctgctgaggattCttcagcactggttactgtct	8	14	10	9	0	4	1	1	1	3	0	4	2	4	2	0	3	4	4	0	3	2	4			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chrX:3241208C>A	ENST00000217939.6	-	5	2672	c.2518G>T	c.(2518-2520)Gaa>Taa	p.E840*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	840						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGAGGATTCTTCAGCACTG	0.488													7	68					2.0095e-06	2.28197e-06	1	0	A	3241208	C	A	3241208	4	1	305	1	0	0	0	0	0	1	0	0	10073	922	32	2	5980	2	MXRA5	23	3241208	Nonsense_Mutation	SNP	C	TCGA-CV-7410-01A-21D-2078-08		3241208	152029352	45	54751											
SYTL4	94121	broad.mit.edu	37	chrX	99931103	99931103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaccctgggtactgtcgCatcttctgccacaggctcac	8	9	9	15	1	3	1	1	0	2	1	4	1	3	1	2	2	2	3	2	2	2	2	rs143469082	byFrequency	TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chrX:99931103C>T	ENST00000455616.1	-	18	2284	c.1938G>A	c.(1936-1938)atG>atA	p.M646I	SYTL4_ENST00000372989.1_Missense_Mutation_p.M646I|SYTL4_ENST00000263033.5_Missense_Mutation_p.M646I|SYTL4_ENST00000276141.6_Missense_Mutation_p.M646I|SYTL4_ENST00000454200.2_Missense_Mutation_p.M648I|SYTL4_ENST00000491602.1_5'UTR			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	646					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTACTGTCGCATCTTCTGCC	0.547													3	23					0	0	0	0	T	99931103	C	T	99931103	3	4	305	1	0	0	0	0	1	0	0	0	15576	710	25	4	81	4	SYTL4	23	99931103	Missense_Mutation	SNP	C	TCGA-CV-7410-01A-21D-2078-08	96689895	99931103	55339457	46	54752											
MCF2	4168	broad.mit.edu	37	chrX	138699732	138699732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatccgttttgcttttatCtcattaaccaaaatatcaga	12	17	4	8	1	2	1	2	0	1	1	4	1	3	1	2	0	2	3	2	0	6	7			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chrX:138699732C>A	ENST00000520602.1	-	11	1404	c.1119G>T	c.(1117-1119)gaG>gaT	p.E373D	MCF2_ENST00000414978.1_Missense_Mutation_p.E373D|MCF2_ENST00000536274.1_Missense_Mutation_p.E274D|MCF2_ENST00000370576.4_Missense_Mutation_p.E313D|MCF2_ENST00000519895.1_Missense_Mutation_p.E373D|MCF2_ENST00000338585.6_Missense_Mutation_p.E313D|MCF2_ENST00000370573.4_Missense_Mutation_p.E313D|MCF2_ENST00000370578.4_Missense_Mutation_p.E458D			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	313					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTGCTTTTATCTCATTAACCA	0.393													6	74					0.217242	0.217242	1	0	A	138699732	C	A	138699732	3	1	305	1	0	0	0	0	1	0	0	0	9447	912	32	2	1990	2	MCF2	23	138699732	Missense_Mutation	SNP	C	TCGA-CV-7410-01A-21D-2078-08	38768629	138699732	16570828	47	54753											
ATP11C	286410	broad.mit.edu	37	chrX	138869398	138869398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatttcctaaaaatgtgaacCcgtacctatcaaaaacaata	18	10	4	9	1	1	1	1	1	0	0	2	2	2	1	3	0	3	1	3	0	10	5			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chrX:138869398C>A	ENST00000370557.1	-	15	2553	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	ATP11C_ENST00000361648.2_Missense_Mutation_p.G512V|ATP11C_ENST00000370543.1_Missense_Mutation_p.G512V|ATP11C_ENST00000359686.2_Missense_Mutation_p.G512V|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.G512V			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	512					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAATGTGAACCCGTACCTATC	0.308													4	38					0.00024832	0.000264086	1	0	A	138869398	C	A	138869398	3	1	305	1	0	0	0	0	1	0	0	0	1125	623	22	4	1990	4	ATP11C	23	138869398	Missense_Mutation	SNP	C	TCGA-CV-7410-01A-21D-2078-08	169666	138869398	16401162	48	54754											
FAM131C	348487	broad.mit.edu	37	chr1	16385163	16385163	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctgaaggctgtcatcCtgtgaggggccgctgggaag	8	7	17	9	1	1	2	1	2	0	0	2	3	2	3	3	5	0	2	3	5	3	0			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:16385163C>T	ENST00000375662.4	-	7	795	c.612G>A	c.(610-612)caG>caA	p.Q204Q	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	204										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTGTCATCCTGTGAGGGGC	0.652													2	4					0	0	0	0	T	16385163	C	T	16385163	2	4	306	1	0	0	0	0	0	0	0	1	5482	680	24	4		4	FAM131C	1	16385163	Silent	SNP	C	TCGA-CV-7411-01A-11D-2078-08		16385163	232865458	1	54755											
MATN1	4146	broad.mit.edu	37	chr1	31188840	31188840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcccaccttctgggcccCgggcctagccccactggaca	7	6	10	18	1	1	0	0	0	1	0	1	1	1	1	7	3	2	0	7	3	2	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:31188840C>T	ENST00000373765.4	-	5	1158	c.1123G>A	c.(1123-1125)Ggg>Agg	p.G375R		NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	375	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGGGCCCCGGGCCTAGCC	0.552													11	73					0	0	0	0	T	31188840	C	T	31188840	3	4	306	1	0	0	0	0	1	0	0	0	9402	652	23	1	383	1	MATN1	1	31188840	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	14803677	31188840	218061781	2	54756											
MRPS15	64960	broad.mit.edu	37	chr1	36929441	36929441	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acatatccgcgcgcggcctgGaggaggagacctacgcagaa	11	4	14	12	5	0	2	0	0	0	2	1	5	1	4	3	4	1	1	3	4	3	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:36929441G>C	ENST00000373116.5	-	2	302	c.141C>G	c.(139-141)ctC>ctG	p.L47L		NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	47				GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697).	translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGCGGCCTGGAGGAGGAGAC	0.607													6	36					0	0	0	0	C	36929441	G	C	36929441	2	2	306	1	0	0	0	0	0	0	0	1	9895	1161	41	2		2	MRPS15	1	36929441	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	5740601	36929441	212321180	3	54757											
MTF1	4520	broad.mit.edu	37	chr1	38305745	38305745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacaaaggtgtactctcctCggtgagtcttctggtgggtt	7	13	13	8	1	3	2	0	1	3	1	5	2	3	2	1	4	1	2	1	4	2	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:38305745C>T	ENST00000373036.4	-	3	634	c.494G>A	c.(493-495)cGa>cAa	p.R165Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	165						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTACTCTCCTCGGTGAGTCTT	0.547													11	50					0	0	0	0	T	38305745	C	T	38305745	3	4	306	1	0	0	0	0	1	0	0	0	9992	884	31	1	1803	1	MTF1	1	38305745	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	1376304	38305745	210944876	4	54758											
AKNAD1	254268	broad.mit.edu	37	chr1	109391400	109391400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttgtcttgcaaatggtaagGagagtcctgttttattcttt	8	18	9	6	0	2	1	0	0	2	1	3	2	3	1	1	2	1	3	1	2	3	7			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:109391400G>C	ENST00000370001.3	-	5	1487	c.1219C>G	c.(1219-1221)Cct>Gct	p.P407A	AKNAD1_ENST00000369994.1_Missense_Mutation_p.P407A|AKNAD1_ENST00000369995.3_Missense_Mutation_p.P407A|AKNAD1_ENST00000357393.4_Missense_Mutation_p.P114A	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	407										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AAATGGTAAGGAGAGTCCTGT	0.313													11	77					0	0	0	0	C	109391400	G	C	109391400	3	2	306	1	0	0	0	0	1	0	0	0	464	1174	41	2	1339	2	AKNAD1	1	109391400	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	71085655	109391400	139859221	5	54759											
POGZ	23126	broad.mit.edu	37	chr1	151377602	151377602	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctagcacttcacccagccaGacaagcaccagctgaagcag	13	4	8	16	0	1	2	1	1	0	1	1	2	1	2	4	0	5	4	4	0	3	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:151377602G>C	ENST00000271715.2	-	19	4223	c.3909C>G	c.(3907-3909)gtC>gtG	p.V1303V	POGZ_ENST00000491586.1_Silent_p.V1259V|POGZ_ENST00000368863.2_Silent_p.V1208V|POGZ_ENST00000540984.1_Silent_p.V665V|POGZ_ENST00000361398.3_Silent_p.V1250V|POGZ_ENST00000531094.1_Silent_p.V1241V|POGZ_ENST00000409503.1_Silent_p.V1294V|POGZ_ENST00000392723.1_Silent_p.V1250V	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1303	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACCCAGCCAGACAAGCACCA	0.517													27	85					0	0	0	0	C	151377602	G	C	151377602	2	2	306	1	0	0	0	0	0	0	0	1	12258	929	33	2		2	POGZ	1	151377602	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	41986202	151377602	97873019	6	54760											
NES	10763	broad.mit.edu	37	chr1	156642028	156642028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactaattcttgattttccGttcctggaaataaaaatgtc	12	17	5	7	1	1	1	0	1	1	0	4	2	3	2	2	1	1	1	2	1	6	8			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:156642028G>A	ENST00000368223.3	-	4	2084	c.1952C>T	c.(1951-1953)aCg>aTg	p.T651M		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	651	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGATTTTCCGTTCCTGGAAA	0.398													10	38					0	0	0	0	A	156642028	G	A	156642028	3	1	306	1	0	0	0	0	1	0	0	0	10407	1145	40	1	2917	1	NES	1	156642028	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	5264426	156642028	92608593	7	54761											
FCRL3	115352	broad.mit.edu	37	chr1	157665837	157665837	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcggaacttacttctcacGgtgactcgaatccacgtgct	10	11	8	12	4	1	1	1	1	1	0	5	3	2	2	1	2	3	1	1	2	4	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:157665837G>T	ENST00000368184.3	-	7	1416	c.1125C>A	c.(1123-1125)acC>acA	p.T375T	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.T375T|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	375						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)					TACTTCTCACGGTGACTCGAA	0.522													6	30					2.0095e-06	2.17466e-06	1	0	T	157665837	G	T	157665837	2	4	306	1	0	0	0	0	0	0	0	1	5841	1103	39	3		3	FCRL3	1	157665837	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	1023809	157665837	91584784	8	54762											
APOA2	336	broad.mit.edu	37	chr1	161192086	161192086	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataccaggctcagagctggaTtcattcagcatttattgtag	11	13	9	8	0	3	1	3	0	0	1	3	2	3	2	1	2	3	4	1	2	3	7			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:161192086T>C	ENST00000594609.1	+	2	21	c.21T>C	c.(19-21)gaT>gaC	p.D7D	APOA2_ENST00000481413.1_5'UTR|APOA2_ENST00000367990.3_3'UTR																							CAGAGCTGGATTCATTCAGCA	0.502													8	35					0	0	0	0	C	161192086	T	C	161192086	2	2	306	1	0	0	0	0	0	0	0	1	784	1508	52	5		5	APOA2	1	161192086	Silent	SNP	T	TCGA-CV-7411-01A-11D-2078-08	3526249	161192086	88058535	9	54763											
FMO4	2329	broad.mit.edu	37	chr1	171303659	171303659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaacctctgctgtctttGaagatgggacagtggaagaa	13	9	12	7	0	2	4	0	1	2	3	2	6	2	6	1	2	2	1	1	2	4	1			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:171303659G>A	ENST00000367749.3	+	8	1267	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	313					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGCTGTCTTTGAAGATGGGAC	0.378													11	50					0	0	0	0	A	171303659	G	A	171303659	3	1	306	1	0	0	0	0	1	0	0	0	6002	1291	45	2	959	2	FMO4	1	171303659	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	10111573	171303659	77946962	10	54764											
ASPM	259266	broad.mit.edu	37	chr1	197111547	197111547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttgttttcttaacagctGatgttttaggctctgaggga	7	19	10	5	0	2	2	0	2	2	0	2	3	2	3	0	2	2	4	0	2	2	7			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:197111547G>A	ENST00000367409.4	-	3	2091	c.1835C>T	c.(1834-1836)tCa>tTa	p.S612L	ASPM_ENST00000294732.7_Missense_Mutation_p.S612L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	612					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTAACAGCTGATGTTTTAGG	0.368													33	127					0	0	0	0	A	197111547	G	A	197111547	3	1	306	1	0	0	0	0	1	0	0	0	1060	1294	45	2	8702	2	ASPM	1	197111547	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	25807888	197111547	52139074	11	54765											
PLXNA2	5362	broad.mit.edu	37	chr1	208202360	208202360	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaactgggggttcttaatCacgttcacccagaagcgcag	11	8	11	11	3	3	1	2	0	1	1	3	2	3	1	1	2	2	3	1	2	3	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:208202360C>A	ENST00000367033.3	-	30	6010	c.5253G>T	c.(5251-5253)gtG>gtT	p.V1751V	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1751					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTTCTTAATCACGTTCACCC	0.562													14	34					1.99824e-07	2.22339e-07	1	0	A	208202360	C	A	208202360	2	1	306	1	0	0	0	0	0	0	0	1	12192	813	29	2		2	PLXNA2	1	208202360	Silent	SNP	C	TCGA-CV-7411-01A-11D-2078-08	11090813	208202360	41048261	12	54766											
RYR2	6262	broad.mit.edu	37	chr1	237780641	237780641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtccggcaccggatagaagCcattgtagccttttcagatg	9	10	12	10	2	1	2	1	0	0	2	2	3	2	3	4	3	2	2	4	3	3	5			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:237780641C>T	ENST00000366574.2	+	38	6088	c.5771C>T	c.(5770-5772)gCc>gTc	p.A1924V	RYR2_ENST00000542537.1_Missense_Mutation_p.A1908V|RYR2_ENST00000360064.6_Missense_Mutation_p.A1922V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1924	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGGATAGAAGCCATTGTAGCC	0.433													6	22					0	0	0	0	T	237780641	C	T	237780641	3	4	306	1	0	0	0	0	1	0	0	0	13854	739	26	4	5921	4	RYR2	1	237780641	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	29578281	237780641	11469980	13	54767											
CRIM1	51232	broad.mit.edu	37	chr2	36691747	36691747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactccccgcatagtctctCgtggcgatgggacacctgga	7	8	11	15	3	1	0	0	0	1	0	4	3	2	2	4	3	0	1	4	3	1	1			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:36691747C>T	ENST00000280527.2	+	5	1307	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	314					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CATAGTCTCTCGTGGCGATGG	0.498													30	109					0	0	0	0	T	36691747	C	T	36691747	3	4	306	1	0	0	0	0	1	0	0	0	3903	884	31	1	958	1	CRIM1	2	36691747	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08		36691747	206507626	14	54768											
LRRTM1	347730	broad.mit.edu	37	chr2	80530211	80530211	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagctgaccacaatggccAccttgttcctccgcaggcag	8	7	11	15	2	0	1	0	1	0	0	2	2	2	1	5	2	1	4	5	2	1	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:80530211A>T	ENST00000295057.3	-	2	1390	c.734T>A	c.(733-735)gTg>gAg	p.V245E	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.V245E	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	245						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CACAATGGCCACCTTGTTCCT	0.587										HNSCC(69;0.2)			18	58					0	0	0	0	T	80530211	A	T	80530211	3	4	306	1	0	0	0	0	1	0	0	0	9103	159	6	5	838	5	LRRTM1	2	80530211	Missense_Mutation	SNP	A	TCGA-CV-7411-01A-11D-2078-08	43838464	80530211	162669162	15	54769											
CNGA3	1261	broad.mit.edu	37	chr2	99013277	99013277	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcgatggcagctacttcggGgagatcagcattctgaacat	11	9	12	9	2	2	2	1	1	1	1	3	4	2	2	0	3	5	3	0	3	2	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:99013277G>A	ENST00000393504.1	+	8	2061	c.1644G>A	c.(1642-1644)ggG>ggA	p.G548G	CNGA3_ENST00000409937.1_Silent_p.G552G|CNGA3_ENST00000436404.2_Silent_p.G530G|CNGA3_ENST00000272602.2_Silent_p.G548G	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	548			G -> R (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCTACTTCGGGGAGATCAGCA	0.572													28	87					0	0	0	0	A	99013277	G	A	99013277	2	1	306	1	0	0	0	0	0	0	0	1	3628	1219	43	4		4	CNGA3	2	99013277	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	18483066	99013277	144186096	16	54770											
GALNT13	114805	broad.mit.edu	37	chr2	155102369	155102369	+	Frame_Shift_Del	DEL	C	C	-																															tgatgtgattagtgatgataCttttgaatatatggctgggt																										TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:155102369delC	ENST00000392825.3	+	7	1298	c.731delC	c.(730-732)atfs	p.T244fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.T244fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	244						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AGTGATGATACTTTTGAATAT	0.373													17	68	---	---	---	---					-	155102369	C	-	155102369	7	5	306	1	0	1	0	1	0	0	0	0	6260	565	20	0	749	0	GALNT13	2	155102369	Frame_Shift_Del	DEL	C	TCGA-CV-7411-01A-11D-2078-08	56089092	155102369	88097004	17	54771											
SCN1A	6323	broad.mit.edu	37	chr2	166856255	166856255	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctggaatcaactgctgcaTacattatatccatccatcct	11	14	4	12	0	2	0	1	0	1	0	5	1	5	1	3	1	4	2	3	1	5	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:166856255T>C	ENST00000423058.2	-	22	4333	c.4316A>G	c.(4315-4317)tAt>tGt	p.Y1439C	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.Y1411C|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.Y1428C|SCN1A_ENST00000303395.4_Missense_Mutation_p.Y1439C	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1439						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACTGCTGCATACATTATATC	0.303													19	58					0	0	0	0	C	166856255	T	C	166856255	3	2	306	1	0	0	0	0	1	0	0	0	14001	1406	49	5	1733	5	SCN1A	2	166856255	Missense_Mutation	SNP	T	TCGA-CV-7411-01A-11D-2078-08	11753886	166856255	76343118	18	54772											
MAP2	4133	broad.mit.edu	37	chr2	210559592	210559592	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaccttttacgaaggcActgatgataaagttcgaaga	13	11	11	6	2	0	3	0	2	0	1	1	5	0	3	1	2	2	3	1	2	6	5			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:210559592A>C	ENST00000360351.4	+	7	3204	c.2698A>C	c.(2698-2700)Act>Cct	p.T900P	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.T896P|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	900					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTACGAAGGCACTGATGATAA	0.453													11	53					0	0	0	0	C	210559592	A	C	210559592	3	2	306	1	0	0	0	0	1	0	0	0	9304	159	6	5	2712	5	MAP2	2	210559592	Missense_Mutation	SNP	A	TCGA-CV-7411-01A-11D-2078-08	43703337	210559592	32639781	19	54773											
CPS1	1373	broad.mit.edu	37	chr2	211464248	211464248	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagaacagccagatgggttAattctgggcatgggtggcca	10	8	15	8	0	1	2	0	0	1	2	1	2	1	2	2	4	2	3	2	4	2	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:211464248A>T	ENST00000233072.5	+	14	1708	c.1512A>T	c.(1510-1512)ttA>ttT	p.L504F	CPS1_ENST00000451903.2_Missense_Mutation_p.L53F|CPS1_ENST00000430249.2_Missense_Mutation_p.L510F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	504					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAGATGGGTTAATTCTGGGCA	0.453													18	54					0	0	0	0	T	211464248	A	T	211464248	3	4	306	1	0	0	0	0	1	0	0	0	3853	359	13	5	1588	5	CPS1	2	211464248	Missense_Mutation	SNP	A	TCGA-CV-7411-01A-11D-2078-08	904656	211464248	31735125	20	54774											
ALPP	250	broad.mit.edu	37	chr2	233243766	233243766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcctgcacagacagcCgccaagaacctcatcatctt	11	7	7	16	1	3	2	2	0	1	2	3	2	3	2	4	0	5	2	4	0	2	1			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:233243766C>T	ENST00000392027.2	+	2	431	c.162C>T	c.(160-162)gcC>gcT	p.A54A		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	54						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CACAGACAGCCGCCAAGAACC	0.667													22	85					0	0	0	0	T	233243766	C	T	233243766	2	4	306	1	0	0	0	0	0	0	0	1	548	639	23	1		1	ALPP	2	233243766	Silent	SNP	C	TCGA-CV-7411-01A-11D-2078-08	21779518	233243766	9955607	21	54775											
AGAP1	116987	broad.mit.edu	37	chr2	237032610	237032610	+	Silent	SNP	G	G	T																															gcccacgggaacacagctctGgcctacgcccggcaggcctc																										TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:237032610G>T	ENST00000409538.1	+	17	3550	c.3054G>T	c.(3052-3054)ctG>ctT	p.L1018L	AGAP1_ENST00000428334.2_Silent_p.L645L|AGAP1_ENST00000336665.5_Silent_p.L753L|AGAP1_ENST00000304032.7_Silent_p.L806L			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	806					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACACAGCTCTGGCCTACGCCC	0.642													13	40					7.03913e-09	8.17781e-09	1	0	T	237032610	G	T	237032610	2	4	306	1	0	0	0	0	0	0	0	1	366	1335	47	4		4	AGAP1	2	237032610	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	3788844	237032610	6166763	22	54776	447	2									
AGAP1	116987	broad.mit.edu	37	chr2	237032611	237032611	+	Missense_Mutation	SNP	G	G	A																															cccacgggaacacagctctgGcctacgcccggcaggcctcc																										TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:237032611G>A	ENST00000409538.1	+	17	3551	c.3055G>A	c.(3055-3057)Gcc>Acc	p.A1019T	AGAP1_ENST00000428334.2_Missense_Mutation_p.A646T|AGAP1_ENST00000336665.5_Missense_Mutation_p.A754T|AGAP1_ENST00000304032.7_Missense_Mutation_p.A807T			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	807					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CACAGCTCTGGCCTACGCCCG	0.642													14	41					0	0	0	0	A	237032611	G	A	237032611	3	1	306	1	0	0	0	0	1	0	0	0	366	1203	42	4	2489	4	AGAP1	2	237032611	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	1	237032611	6166762	23	54777	447	2									
OR6B3	150681	broad.mit.edu	37	chr2	240984616	240984616	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaaattccttattcctcaGgcagtatatcaaggggttca	11	14	7	9	0	3	0	3	0	0	0	5	0	5	0	2	3	0	3	2	3	6	7			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:240984616G>A	ENST00000319423.4	-	1	873	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TTATTCCTCAGGCAGTATATC	0.493													25	121					0	0	0	0	A	240984616	G	A	240984616	2	1	306	1	0	0	0	0	0	0	0	1	11260	991	35	4		4	OR6B3	2	240984616	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	3952005	240984616	2214757	24	54778											
TGFBR2	7048	broad.mit.edu	37	chr3	30715717	30715717	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctctgggaaatgacaTctcgctgtaatgcagtggga	9	11	14	7	1	2	1	0	1	2	0	3	3	2	3	0	3	2	4	0	3	2	1			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:30715717T>C	ENST00000295754.5	+	5	1757	c.1375T>C	c.(1375-1377)Tct>Cct	p.S459P	TGFBR2_ENST00000359013.4_Missense_Mutation_p.S484P	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	459	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGAAATGACATCTCGCTGTAA	0.463													27	49					0	0	0	0	C	30715717	T	C	30715717	3	2	306	1	0	0	0	0	1	0	0	0	15916	1435	50	5	1472	5	TGFBR2	3	30715717	Missense_Mutation	SNP	T	TCGA-CV-7411-01A-11D-2078-08		30715717	167306713	25	54779											
STAB1	23166	broad.mit.edu	37	chr3	52552020	52552020	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgtgcccgagtcggcctgGtaatgatgcccaagtcagac	8	7	13	13	3	1	2	1	1	0	1	2	3	1	2	4	2	2	1	4	2	2	1			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:52552020G>C	ENST00000321725.6	+	45	4837		c.e45+1			NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1						cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGTCGGCCTGGTAATGATGCC	0.612													11	49					0	0	0	0	C	52552020	G	C	52552020	5	2	306	1	0	0	0	0	0	0	1	0	15327	1275	44	4	4940	4	STAB1	3	52552020	Splice_Site	SNP	G	TCGA-CV-7411-01A-11D-2078-08	21836303	52552020	145470410	26	54780											
SEMA5B	54437	broad.mit.edu	37	chr3	122629868	122629868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagcaggagatgcccgtgGccaccaagtggatgagattg	12	6	15	8	1	0	3	0	1	0	3	0	6	0	4	3	3	2	1	3	3	2	1			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:122629868G>A	ENST00000195173.4	-	22	3544	c.3241C>T	c.(3241-3243)Cca>Tca	p.P1081S	SEMA5B_ENST00000357599.3_Missense_Mutation_p.A1039V|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A1093V			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	0					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GATGCCCGTGGCCACCAAGTG	0.597													5	21					0	0	0	0	A	122629868	G	A	122629868	3	1	306	1	0	0	0	0	1	0	0	0	14125	1203	42	4	347	4	SEMA5B	3	122629868	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	70077848	122629868	75392562	27	54781											
A4GNT	51146	broad.mit.edu	37	chr3	137850095	137850095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagagctggagctccttccGcatgtcctcttctctgtgcc	4	12	11	14	1	2	1	0	0	2	1	6	3	5	2	4	2	3	3	4	2	0	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:137850095G>A	ENST00000236709.3	-	2	205	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	2					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AGCTCCTTCCGCATGTCCTCT	0.473													6	26					0	0	0	0	A	137850095	G	A	137850095	3	1	306	1	0	0	0	0	1	0	0	0	7	1086	38	1	1026	1	A4GNT	3	137850095	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	15220227	137850095	60172335	28	54782											
CLSTN2	64084	broad.mit.edu	37	chr3	140185547	140185547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgacacctttcgccccGcggagttccactggaagctg	7	8	12	14	3	0	1	0	1	0	0	2	3	1	3	4	3	1	3	4	3	1	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:140185547G>A	ENST00000458420.3	+	8	1508	c.1318G>A	c.(1318-1320)Gcg>Acg	p.A440T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	440					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTTTCGCCCCGCGGAGTTCCA	0.572										HNSCC(16;0.037)			6	28					0	0	0	0	A	140185547	G	A	140185547	3	1	306	1	0	0	0	0	1	0	0	0	3592	1087	38	1	1348	1	CLSTN2	3	140185547	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	2335452	140185547	57836883	29	54783											
PIK3CA	5290	broad.mit.edu	37	chr3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccagtacctcatggattaGaagatttgctgaaccctatt	11	12	9	9	0	1	3	1	1	0	2	1	4	1	4	3	2	3	2	3	2	5	5			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	59					0	0	0	0	A	178928079	G	A	178928079	3	1	306	1	0	0	0	0	1	0	0	0	11985	943	33	2	1383	2	PIK3CA	3	178928079	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	38742532	178928079	19094351	30	54784											
FRYL	285527	broad.mit.edu	37	chr4	48523208	48523208	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatggtctggtattgtttCatcagtggcagaatcactgt	9	14	12	6	0	4	1	3	0	1	1	4	2	4	2	0	4	0	3	0	4	2	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:48523208C>A	ENST00000358350.4	-	55	8150	c.7546G>T	c.(7546-7548)Gaa>Taa	p.E2516*	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Nonsense_Mutation_p.E2516*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.E2516*	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2516					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGTATTGTTTCATCAGTGGCA	0.388													12	45					1.5842e-08	1.81379e-08	1	0	A	48523208	C	A	48523208	4	1	306	1	0	0	0	0	0	1	0	0	6112	835	29	2	1535	2	FRYL	4	48523208	Nonsense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08		48523208	142631068	31	54785											
CEP135	9662	broad.mit.edu	37	chr4	56823519	56823519	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgcagacctccttcaagtGgctgataacaggtgcattaa	12	11	9	9	0	1	2	1	1	0	1	2	2	2	2	2	2	3	3	2	2	3	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:56823519G>A	ENST00000257287.4	+	5	727	c.603G>A	c.(601-603)gtG>gtA	p.V201V	CEP135_ENST00000422247.2_Silent_p.V201V	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	201					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCCTTCAAGTGGCTGATAACA	0.413													11	53					0	0	0	0	A	56823519	G	A	56823519	2	1	306	1	0	0	0	0	0	0	0	1	3276	1335	47	4		4	CEP135	4	56823519	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	8300311	56823519	134330757	32	54786											
SULT1E1	6783	broad.mit.edu	37	chr4	70713465	70713465	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtacacgtggactctttcccTtttcccaccaagattttaca	9	14	5	13	1	1	1	0	0	1	1	3	2	3	2	3	1	2	1	3	1	3	6			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:70713465T>C	ENST00000226444.3	-	6	654	c.542A>G	c.(541-543)aAg>aGg	p.K181R		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						ACTCTTTCCCTTTTCCCACCA	0.373													3	63					0	0	0	0	C	70713465	T	C	70713465	3	2	306	1	0	0	0	0	1	0	0	0	15470	1609	56	5	354	5	SULT1E1	4	70713465	Missense_Mutation	SNP	T	TCGA-CV-7411-01A-11D-2078-08	13889946	70713465	120440811	33	54787											
HELQ	113510	broad.mit.edu	37	chr4	84348802	84348802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattagatgaagaaggctttCaagcacaagtccttcaagac	15	9	9	8	0	2	4	2	1	0	3	3	5	3	4	1	1	1	2	1	1	6	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:84348802C>T	ENST00000295488.3	-	13	2752	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	HELQ_ENST00000510985.1_Missense_Mutation_p.E797K	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	864							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGAAGGCTTTCAAGCACAAGT	0.368								Other identified genes with known or suspected DNA repair function					10	47					0	0	0	0	T	84348802	C	T	84348802	3	4	306	1	0	0	0	0	1	0	0	0	7097	835	29	2	739	2	HELQ	4	84348802	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	13635337	84348802	106805474	34	54788											
TRPC3	7222	broad.mit.edu	37	chr4	122800994	122800994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttccaaaagttcataaCgaaggctggagatatcttgc	12	12	9	8	1	3	1	1	0	2	1	4	3	4	1	1	2	2	2	1	2	5	5			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:122800994C>T	ENST00000264811.5	-	11	2862	c.2444G>A	c.(2443-2445)cGt>cAt	p.R815H	TRPC3_ENST00000379645.3_Missense_Mutation_p.R888H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R760H	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	803					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAGTTCATAACGAAGGCTGGA	0.333													9	28					0	0	0	0	T	122800994	C	T	122800994	3	4	306	1	0	0	0	0	1	0	0	0	16674	536	19	1	106	1	TRPC3	4	122800994	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	38452192	122800994	68353282	35	54789											
FAT4	79633	broad.mit.edu	37	chr4	126336256	126336256	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttgttggatgtaaatgaTaacccaccgacatttctttc	11	16	6	8	1	1	1	0	1	1	0	2	3	1	2	2	1	1	2	2	1	3	7			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:126336256T>A	ENST00000394329.3	+	5	6151	c.6138T>A	c.(6136-6138)gaT>gaA	p.D2046E	FAT4_ENST00000335110.5_Missense_Mutation_p.D344E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2046	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGTAAATGATAACCCACCGA	0.408													24	118					0	0	0	0	A	126336256	T	A	126336256	3	1	306	1	0	0	0	0	1	0	0	0	5737	1403	49	5	6156	5	FAT4	4	126336256	Missense_Mutation	SNP	T	TCGA-CV-7411-01A-11D-2078-08	3535262	126336256	64818020	36	54790											
MCCC2	64087	broad.mit.edu	37	chr5	70948526	70948526	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgaagcggctttaaaaGagcccatcattaagaagttt	14	11	9	7	1	1	4	1	2	0	2	1	4	1	4	1	1	2	2	1	1	5	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:70948526G>T	ENST00000340941.6	+	16	1648	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	MCCC2_ENST00000323375.8_Nonsense_Mutation_p.E469*	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	507	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GGCTTTAAAAGAGCCCATCAT	0.463													9	32					2.17888e-05	2.29508e-05	1	0	T	70948526	G	T	70948526	4	4	306	1	0	0	0	0	0	1	0	0	9444	943	33	2	1581	2	MCCC2	5	70948526	Nonsense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08		70948526	109966734	37	54791											
PCDHB2	56133	broad.mit.edu	37	chr5	140476702	140476702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagccaattatccccaacttCgttgctcagggtgcagagag	11	9	10	11	1	1	1	1	0	0	1	3	2	2	1	3	1	4	3	3	1	4	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:140476702C>T	ENST00000194155.4	+	1	2476	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		776					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCGTTGCTCAGG	0.507													20	79					0	0	0	0	T	140476702	C	T	140476702	2	4	306	1	0	0	0	0	0	0	0	1	11613	883	31	1		1	PCDHB2	5	140476702	Silent	SNP	C	TCGA-CV-7411-01A-11D-2078-08	69528176	140476702	40438558	38	54792											
SYNPO	11346	broad.mit.edu	37	chr5	150027825	150027825	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagagccccgacagaggggtCcctggccacagcatggaggg	9	3	16	13	1	0	2	0	0	0	2	1	4	1	3	4	5	2	1	4	5	0	0			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:150027825C>T	ENST00000394243.1	+	3	1094	c.720C>T	c.(718-720)gtC>gtT	p.V240V	SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Silent_p.V240V|SYNPO_ENST00000307662.4_5'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	240					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGAGGGGTCCCTGGCCACA	0.667													10	23					0	0	0	0	T	150027825	C	T	150027825	2	4	306	1	0	0	0	0	0	0	0	1	15547	842	30	2		2	SYNPO	5	150027825	Silent	SNP	C	TCGA-CV-7411-01A-11D-2078-08	9551123	150027825	30887435	39	54793											
FAT2	2196	broad.mit.edu	37	chr5	150922849	150922849	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctgcgttctgaccttcAtctgcatcataggccaacac	10	11	6	14	1	5	1	2	1	3	0	5	1	5	1	2	1	3	2	2	1	2	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:150922849A>C	ENST00000261800.5	-	9	7851	c.7839T>G	c.(7837-7839)gaT>gaG	p.D2613E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2613	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTGACCTTCATCTGCATCAT	0.458													39	154					0	0	0	0	C	150922849	A	C	150922849	3	2	306	1	0	0	0	0	1	0	0	0	5735	214	8	5	5270	5	FAT2	5	150922849	Missense_Mutation	SNP	A	TCGA-CV-7411-01A-11D-2078-08	895024	150922849	29992411	40	54794											
HAVCR2	84868	broad.mit.edu	37	chr5	156514184	156514184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgacatagcaataatactCattgggctcctccacttcat	11	12	6	12	0	2	1	2	1	0	0	4	1	4	1	2	1	2	3	2	1	4	5			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:156514184C>T	ENST00000307851.4	-	7	1565	c.835G>A	c.(835-837)Gag>Aag	p.E279K	HAVCR2_ENST00000522593.1_Missense_Mutation_p.E251K	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	279						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATAATACTCATTGGGCTCC	0.463													11	43					0	0	0	0	T	156514184	C	T	156514184	3	4	306	1	0	0	0	0	1	0	0	0	7024	835	29	2	74	2	HAVCR2	5	156514184	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	5591335	156514184	24401076	41	54795											
DOCK2	1794	broad.mit.edu	37	chr5	169502981	169502981	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagctgggattaagatcCatgagaaaagggtgtcagat	13	9	15	4	0	1	3	1	1	0	3	2	6	2	5	1	3	1	1	1	3	3	1			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:169502981C>A	ENST00000256935.8	+	47	4839	c.4759C>A	c.(4759-4761)Cat>Aat	p.H1587N	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.H1079N|DOCK2_ENST00000540750.1_Missense_Mutation_p.H648N	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1587	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATTAAGATCCATGAGAAAAG	0.532													23	107					1.96895e-08	2.23808e-08	1	0	A	169502981	C	A	169502981	3	1	306	1	0	0	0	0	1	0	0	0	4723	594	21	4	4945	4	DOCK2	5	169502981	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	12988797	169502981	11412279	42	54796											
HIST1H4E	8367	broad.mit.edu	37	chr6	26205150	26205150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggtctacgcgctgaagaGacagggacgcactctttacg	9	9	13	10	4	2	2	0	1	2	1	2	4	2	3	0	2	2	2	0	2	3	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:26205150G>C	ENST00000360441.4	+	1	293	c.278G>C	c.(277-279)aGa>aCa	p.R93T		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	93					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.R93T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GCGCTGAAGAGACAGGGACGC	0.537													6	43					0	0	0	0	C	26205150	G	C	26205150	3	2	306	1	0	0	0	0	1	0	0	0	7219	942	33	2	280	2	HIST1H4E	6	26205150	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08		26205150	144909917	43	54797											
MICB	4277	broad.mit.edu	37	chr6	31474816	31474816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgccccccatggtgaatGtcacctgcagcgaggtctca	8	8	11	14	1	2	1	2	1	1	0	3	2	2	1	4	2	3	1	4	2	1	0			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:31474816G>A	ENST00000252229.6	+	4	710	c.631G>A	c.(631-633)Gtc>Atc	p.V211I	MICB_ENST00000399150.3_Missense_Mutation_p.V168I|MICB_ENST00000538442.1_Missense_Mutation_p.V179I	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	211	Ig-like C1-type.				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CATGGTGAATGTCACCTGCAG	0.587													10	42					0	0	0	0	A	31474816	G	A	31474816	3	1	306	1	0	0	0	0	1	0	0	0	9644	1377	48	4	645	4	MICB	6	31474816	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	5269666	31474816	139640251	44	54798											
ENPP1	5167	broad.mit.edu	37	chr6	132195426	132195426	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaatccctcagaaaggaaAtattgtggaagtggatttca	15	10	11	5	0	2	1	2	0	0	1	3	5	3	5	1	4	0	0	1	4	5	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:132195426A>G	ENST00000360971.2	+	16	1604	c.1584A>G	c.(1582-1584)aaA>aaG	p.K528K		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	528	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAGAAAGGAAATATTGTGGAA	0.259													19	83					0	0	0	0	G	132195426	A	G	132195426	2	3	306	1	0	0	0	0	0	0	0	1	5167	98	4	5		5	ENPP1	6	132195426	Silent	SNP	A	TCGA-CV-7411-01A-11D-2078-08	100720610	132195426	38919641	45	54799											
SYNE1	23345	broad.mit.edu	37	chr6	152647096	152647096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccaaaactctgaccttGtgttctgacaatttttcttc	8	16	6	11	0	3	2	0	2	3	0	4	2	3	2	2	1	1	1	2	1	3	5			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:152647096G>T	ENST00000367255.5	-	80	16036	c.15435C>A	c.(15433-15435)caC>caA	p.H5145Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.H5074Q|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.H5074Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.H5145Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5145					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTGACCTTGTGTTCTGACA	0.313										HNSCC(10;0.0054)			4	31					0.00024832	0.000256435	1	0	T	152647096	G	T	152647096	3	4	306	1	0	0	0	0	1	0	0	0	15536	1368	48	4	11299	4	SYNE1	6	152647096	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	20451670	152647096	18467971	46	54800											
HDAC9	9734	broad.mit.edu	37	chr7	18788641	18788641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttaaaggaattgcctatgaCcccttgatgctgaaacacca	13	10	7	11	0	0	3	0	3	0	0	0	4	0	4	4	1	3	1	4	1	5	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:18788641C>T	ENST00000406451.3	+	14	2064	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	HDAC9_ENST00000401921.1_Silent_p.D597D|HDAC9_ENST00000441542.2_Silent_p.D641D|HDAC9_ENST00000432645.2_Silent_p.D638D	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	638	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTGCCTATGACCCCTTGATGC	0.428													6	15					0	0	0	0	T	18788641	C	T	18788641	2	4	306	1	0	0	0	0	0	0	0	1	7064	506	18	4		4	HDAC9	7	18788641	Silent	SNP	C	TCGA-CV-7411-01A-11D-2078-08		18788641	140350022	47	54801											
BBS9	27241	broad.mit.edu	37	chr7	33185916	33185916	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctactattctgggagataaaGaagaatttgatcaaggctgt	14	12	10	5	0	2	4	1	1	1	3	2	5	2	4	0	2	1	1	0	2	7	5			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:33185916G>C	ENST00000242067.6	+	2	573	c.52G>C	c.(52-54)Gaa>Caa	p.E18Q	BBS9_ENST00000355070.2_Missense_Mutation_p.E18Q|BBS9_ENST00000354265.4_Missense_Mutation_p.E18Q|BBS9_ENST00000350941.3_Missense_Mutation_p.E18Q|BBS9_ENST00000425508.2_5'UTR|BBS9_ENST00000482941.1_3'UTR|BBS9_ENST00000396127.2_Missense_Mutation_p.E18Q	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	18					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GGGAGATAAAGAAGAATTTGA	0.333									Bardet-Biedl syndrome				15	58					0	0	0	0	C	33185916	G	C	33185916	3	2	306	1	0	0	0	0	1	0	0	0	1346	943	33	2	54	2	BBS9	7	33185916	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	14397275	33185916	125952747	48	54802											
PKD1L1	168507	broad.mit.edu	37	chr7	47920383	47920383	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagtatggcttgattgTcactgtctgttctgtaatac	9	15	10	7	0	3	2	1	1	2	1	3	3	3	2	0	1	1	4	0	1	3	6			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:47920383T>C	ENST00000289672.2	-	21	3513	c.3463A>G	c.(3463-3465)Aca>Gca	p.T1155A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1155	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGCTTGATTGTCACTGTCTGT	0.468													9	43					0	0	0	0	C	47920383	T	C	47920383	3	2	306	1	0	0	0	0	1	0	0	0	12036	1667	58	5	5234	5	PKD1L1	7	47920383	Missense_Mutation	SNP	T	TCGA-CV-7411-01A-11D-2078-08	14734467	47920383	111218280	49	54803											
ABCB4	5244	broad.mit.edu	37	chr7	87081037	87081037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatcccactatgaatcctgCaaaaaacgtggctactgctt	13	10	7	11	1	0	1	0	1	0	0	2	2	2	1	2	1	4	3	2	1	7	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:87081037C>T	ENST00000265723.4	-	7	721	c.610G>A	c.(610-612)Gca>Aca	p.A204T	ABCB4_ENST00000453593.1_Missense_Mutation_p.A204T|ABCB4_ENST00000359206.3_Missense_Mutation_p.A204T|ABCB4_ENST00000545634.1_Missense_Mutation_p.A204T|ABCB4_ENST00000358400.3_Missense_Mutation_p.A204T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	204	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ATGAATCCTGCAAAAAACGTG	0.443													15	76					0	0	0	0	T	87081037	C	T	87081037	3	4	306	1	0	0	0	0	1	0	0	0	43	710	25	4	3338	4	ABCB4	7	87081037	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	39160654	87081037	72057626	50	54804											
DNAJB6	10049	broad.mit.edu	37	chr7	157208714	157208714	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccgtgtttccttaggattGaaagaaggtggcaagaggaa	13	9	14	5	1	0	3	0	1	0	2	1	5	1	5	2	4	1	2	2	4	5	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:157208714G>A	ENST00000262177.4	+	10	1108	c.903G>A	c.(901-903)ttG>ttA	p.L301L	DNAJB6_ENST00000452797.2_Silent_p.L252L|DNAJB6_ENST00000494267.1_3'UTR|DNAJB6_ENST00000443280.1_Silent_p.L186L	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	301					intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CCTTAGGATTGAAAGAAGGTG	0.478													25	48					0	0	0	0	A	157208714	G	A	157208714	2	1	306	1	0	0	0	0	0	0	0	1	4660	1281	45	2		2	DNAJB6	7	157208714	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	70127677	157208714	1929949	51	54805											
KCNU1	157855	broad.mit.edu	37	chr8	36673194	36673194	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagttcctatgaagcactCaaaggaaagaagtaagtagt	17	8	9	7	0	1	2	1	1	0	1	2	3	2	3	2	1	1	4	2	1	7	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:36673194C>G	ENST00000399881.3	+	9	1021	c.984C>G	c.(982-984)ctC>ctG	p.L328L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	328						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATGAAGCACTCAAAGGAAAGA	0.323													6	26					0	0	0	0	G	36673194	C	G	36673194	2	3	306	1	0	0	0	0	0	0	0	1	8146	813	29	2		2	KCNU1	8	36673194	Silent	SNP	C	TCGA-CV-7411-01A-11D-2078-08		36673194	109690828	52	54806											
GOT1L1	137362	broad.mit.edu	37	chr8	37793279	37793279	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgacacgtgcacccgtgTtgggggggtttagccacagg	7	9	16	9	2	0	2	0	2	0	0	0	2	0	2	2	4	2	3	2	4	1	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:37793279T>C	ENST00000307599.4	-	7	971	c.872A>G	c.(871-873)aAc>aGc	p.N291S	GOT1L1_ENST00000518826.1_Missense_Mutation_p.N32S	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	291					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TGCACCCGTGTTGGGGGGGTT	0.612													9	22					0	0	0	0	C	37793279	T	C	37793279	3	2	306	1	0	0	0	0	1	0	0	0	6628	1725	60	5	405	5	GOT1L1	8	37793279	Missense_Mutation	SNP	T	TCGA-CV-7411-01A-11D-2078-08	1120085	37793279	108570743	53	54807											
ARFGEF1	10565	broad.mit.edu	37	chr8	68208832	68208832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatgtgttgtgatgttactGcagtaagtaaagcctttaag	11	15	10	5	0	0	1	0	1	0	0	0	1	0	1	1	0	3	5	1	0	6	7			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:68208832G>A	ENST00000262215.3	-	5	862	c.473C>T	c.(472-474)gCa>gTa	p.A158V		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	158					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGATGTTACTGCAGTAAGTAA	0.348													3	31					0	0	0	0	A	68208832	G	A	68208832	3	1	306	1	0	0	0	0	1	0	0	0	854	1319	46	4	5216	4	ARFGEF1	8	68208832	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	30415553	68208832	78155190	54	54808											
NECAB1	64168	broad.mit.edu	37	chr8	91836982	91836982	+	Frame_Shift_Del	DEL	T	T	-																															tttgaagaattcaaagcataTtttgcagatggtgttctcag																										TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:91836982delT	ENST00000417640.2	+	3	499	c.162delT	c.(160-162)tafs	p.Y54fs	RP11-662G23.1_ENST00000517884.1_RNA|NECAB1_ENST00000521954.1_3'UTR	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	54	EF-hand 1.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TCAAAGCATATTTTGCAGATG	0.313													2	4	---	---	---	---					-	91836982	T	-	91836982	7	5	306	1	0	1	0	1	0	0	0	0	10374	1500	52	0	172	0	NECAB1	8	91836982	Frame_Shift_Del	DEL	T	TCGA-CV-7411-01A-11D-2078-08	23628150	91836982	54527040	55	54809											
RBM12B	389677	broad.mit.edu	37	chr8	94748464	94748464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgataaaccctcctgaacGacttatggcacgtcttgcat	10	12	7	12	2	1	2	0	2	1	0	2	3	2	2	2	1	3	2	2	1	4	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:94748464G>A	ENST00000399300.2	-	3	388	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	RBM12B_ENST00000517700.1_Missense_Mutation_p.R59C|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	59							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCTGAACGACTTATGGCA	0.403													31	99					0	0	0	0	A	94748464	G	A	94748464	3	1	306	1	0	0	0	0	1	0	0	0	13196	1058	37	1	2834	1	RBM12B	8	94748464	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	2911482	94748464	51615558	56	54810											
PLEC	5339	broad.mit.edu	37	chr8	144993120	144993122	+	In_Frame_Del	DEL	GAT	GAT	-																															tctgtcttctcaatgatctcGatgatgatgatgatcatgcg																										TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:144993120_144993122delGAT	ENST00000322810.4	-	32	11447_11449	c.11278_11280delATC	c.(11278-11280)del	p.I3760del	PLEC_ENST00000356346.3_In_Frame_Del_p.I3609del|PLEC_ENST00000527096.1_In_Frame_Del_p.I3646del|PLEC_ENST00000357649.2_In_Frame_Del_p.I3627del|PLEC_ENST00000436759.2_In_Frame_Del_p.I3650del|PLEC_ENST00000345136.3_In_Frame_Del_p.I3623del|PLEC_ENST00000354958.2_In_Frame_Del_p.I3601del|PLEC_ENST00000398774.2_In_Frame_Del_p.I3591del|PLEC_ENST00000354589.3_In_Frame_Del_p.I3623del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3760	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAATGATCTCGATGATGATGATG	0.621													15	68	---	---	---	---					-	144993122	GAT	-	144993120	7	5	306	1	0	1	0	1	0	0	0	0	12124	1048	37	0	2778	0	PLEC	8	144993120	In_Frame_Del	DEL	GAT	TCGA-CV-7411-01A-11D-2078-08	50244656	144993120	1370902	57	54811											
UNC13B	10497	broad.mit.edu	37	chr9	35389887	35389887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagggcccagcattcggaaCctggatttctggcccaagct	9	8	11	13	1	1	0	0	0	1	0	2	2	1	2	3	4	3	2	3	4	3	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:35389887C>A	ENST00000378495.3	+	24	3114	c.2892C>A	c.(2890-2892)aaC>aaA	p.N964K	UNC13B_ENST00000378496.4_Missense_Mutation_p.N964K|UNC13B_ENST00000396787.1_Missense_Mutation_p.N976K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	964					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCATTCGGAACCTGGATTTCT	0.483													23	83					1.50039e-11	1.76912e-11	1	0	A	35389887	C	A	35389887	3	1	306	1	0	0	0	0	1	0	0	0	17081	506	18	4	2986	4	UNC13B	9	35389887	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08		35389887	105823544	58	54812											
SPTAN1	6709	broad.mit.edu	37	chr9	131345356	131345356	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccccttcttttattcacagGatccatccaacctacaagga	11	11	4	15	0	2	0	1	0	1	0	4	2	4	2	5	2	2	0	5	2	4	5			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:131345356G>T	ENST00000372739.3	+	15	1917	c.1806_splice	c.e15-1	p.D603_splice	SPTAN1_ENST00000358161.5_Splice_Site_p.D603_splice|SPTAN1_ENST00000372731.4_Splice_Site_p.D603_splice	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	603					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTATTCACAGGATCCATCCAA	0.438													8	27					0.00307968	0.00311916	1	0	T	131345356	G	T	131345356	5	4	306	1	0	0	0	0	0	0	1	0	15207	1188	41	2	1861	2	SPTAN1	9	131345356	Splice_Site	SNP	G	TCGA-CV-7411-01A-11D-2078-08	95955469	131345356	9868075	59	54813											
NOTCH1	4851	broad.mit.edu	37	chr9	139401394	139401394	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggggtcaacggggggattGcagtcgtccacgttgatctc	7	9	15	10	4	2	1	1	1	1	0	5	2	3	2	1	5	2	2	1	5	1	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:139401394G>T	ENST00000277541.6	-	23	3750	c.3675C>A	c.(3673-3675)tgC>tgA	p.C1225*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1225	EGF-like 32; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGGGGGGATTGCAGTCGTCCA	0.687			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			3	6					0.00024832	0.000256435	1	0	T	139401394	G	T	139401394	4	4	306	1	0	0	0	0	0	1	0	0	10617	1311	46	4	4040	4	NOTCH1	9	139401394	Nonsense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	8056038	139401394	1812037	60	54814											
KIAA1462	57608	broad.mit.edu	37	chr10	30316132	30316132	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtggttttgcgtcacttGatcttgaagacattctcgtc	7	15	10	9	2	3	3	1	2	2	1	5	3	3	3	0	1	1	2	0	1	1	5			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:30316132G>C	ENST00000375377.1	-	3	3046	c.2945C>G	c.(2944-2946)tCa>tGa	p.S982*		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	982										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGCGTCACTTGATCTTGAAGA	0.527													29	91					0	0	0	0	C	30316132	G	C	30316132	4	2	306	1	0	0	0	0	0	1	0	0	8285	1294	45	2	1142	2	KIAA1462	10	30316132	Nonsense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08		30316132	105218615	61	54815											
KIAA1462	57608	broad.mit.edu	37	chr10	30316271	30316271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgccaccttcttccacgcGaaagcggcccggggatggag	8	5	13	15	5	1	0	0	0	1	0	2	3	2	2	5	4	1	0	5	4	1	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:30316271G>A	ENST00000375377.1	-	3	2907	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	936								p.R936C(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTTCCACGCGAAAGCGGCCC	0.607													12	44					0	0	0	0	A	30316271	G	A	30316271	3	1	306	1	0	0	0	0	1	0	0	0	8285	1058	37	1	1281	1	KIAA1462	10	30316271	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	139	30316271	105218476	62	54816											
OGDHL	55753	broad.mit.edu	37	chr10	50952744	50952744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatatgcagaatctttttatCcttggacctgccataagcct	10	15	6	10	0	1	1	0	0	1	1	2	2	2	2	4	1	3	1	4	1	5	7			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:50952744C>T	ENST00000374103.4	-	13	1769	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N	OGDHL_ENST00000419399.1_Missense_Mutation_p.D505N|OGDHL_ENST00000432695.1_Missense_Mutation_p.D353N	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	562					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ATCTTTTTATCCTTGGACCTG	0.537													15	44					0	0	0	0	T	50952744	C	T	50952744	3	4	306	1	0	0	0	0	1	0	0	0	10911	855	30	2	1392	2	OGDHL	10	50952744	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	20636473	50952744	84582003	63	54817											
ANK3	288	broad.mit.edu	37	chr10	61834987	61834987	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagacaacttaagggcagaGggtgcaaggaacaaagatga	17	5	14	5	0	0	4	0	1	0	3	0	5	0	5	0	3	3	3	0	3	6	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:61834987G>T	ENST00000280772.1	-	37	5843	c.5652C>A	c.(5650-5652)ccC>ccA	p.P1884P	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1884	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAAGGGCAGAGGGTGCAAGGA	0.443													7	56					1.12685e-05	1.19492e-05	1	0	T	61834987	G	T	61834987	2	4	306	1	0	0	0	0	0	0	0	1	622	987	35	4		4	ANK3	10	61834987	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	10882243	61834987	73699760	64	54818											
PAPSS2	9060	broad.mit.edu	37	chr10	89474820	89474820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttgaccacgtccgagctGaggctgaaactctcccttca	10	9	8	14	2	2	3	1	3	1	0	4	4	3	3	3	1	3	2	3	1	2	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:89474820G>A	ENST00000361175.4	+	6	1087	c.718G>A	c.(718-720)Gag>Aag	p.E240K	PAPSS2_ENST00000427144.2_Missense_Mutation_p.E244K|PAPSS2_ENST00000456849.1_Missense_Mutation_p.E240K	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	240					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CGTCCGAGCTGAGGCTGAAAC	0.363													15	26					0	0	0	0	A	89474820	G	A	89474820	3	1	306	1	0	0	0	0	1	0	0	0	11506	1291	45	2	740	2	PAPSS2	10	89474820	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	27639833	89474820	46059927	65	54819											
PSD	5662	broad.mit.edu	37	chr10	104164418	104164418	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctaacagcagctgggaagggGggcgcagagaacatagcggc	12	3	17	9	2	0	1	0	0	0	1	0	3	0	2	0	5	5	3	0	5	4	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:104164418G>A	ENST00000020673.5	-	15	3148	c.2622C>T	c.(2620-2622)ccC>ccT	p.P874P	PSD_ENST00000406432.1_Silent_p.P874P	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	874					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CTGGGAAGGGGGGCGCAGAGA	0.617													35	99					0	0	0	0	A	104164418	G	A	104164418	2	1	306	1	0	0	0	0	0	0	0	1	12725	1219	43	4		4	PSD	10	104164418	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	14689598	104164418	31370329	66	54820											
SCGB1C1	147199	broad.mit.edu	37	chr11	193783	193783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactactggtggggaccccaGaggagctctatgaggggacc	9	6	15	11	0	1	2	0	1	1	1	1	5	1	5	3	6	2	1	3	6	2	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:193783G>A	ENST00000342878.2	+	2	147	c.127G>A	c.(127-129)Gag>Aag	p.E43K	BET1L_ENST00000410108.1_Intron	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	43						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGGGACCCCAGAGGAGCTCTA	0.532													5	50					0	0	0	0	A	193783	G	A	193783	3	1	306	1	0	0	0	0	1	0	0	0	13981	943	33	2	133	2	SCGB1C1	11	193783	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08		193783	134812733	67	54821											
ANO3	63982	broad.mit.edu	37	chr11	26558965	26558966	+	Frame_Shift_Del	DEL	TT	TT	-																															ctttgcaggtatccgtaaacTtataaacaatggctcataca																										TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:26558965_26558966delTT	ENST00000256737.3	+	10	1841_1842	c.989_990delTT	c.(988-990)cfs	p.L330fs	ANO3_ENST00000525139.1_Frame_Shift_Del_p.L314fs|ANO3_ENST00000537978.1_Frame_Shift_Del_p.L314fs|ANO3_ENST00000531568.1_Frame_Shift_Del_p.L184fs	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	330						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATCCGTAAACTTATAAACAATG	0.361													16	82	---	---	---	---					-	26558966	TT	-	26558965	7	5	306	1	0	1	0	1	0	0	0	0	697	1609	56	0	1027	0	ANO3	11	26558965	Frame_Shift_Del	DEL	TT	TCGA-CV-7411-01A-11D-2078-08	26365182	26558965	108447551	68	54822											
KCNA4	3739	broad.mit.edu	37	chr11	30033675	30033675	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgggtctcaaagcgtaggCctgacacatttatcaccaca	11	11	8	11	1	2	1	2	1	1	0	3	1	2	1	2	2	1	1	2	2	3	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:30033675C>G	ENST00000328224.6	-	2	1784	c.551G>C	c.(550-552)gGc>gCc	p.G184A		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	184						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AAAGCGTAGGCCTGACACATT	0.512													10	47					0	0	0	0	G	30033675	C	G	30033675	3	3	306	1	0	0	0	0	1	0	0	0	8058	739	26	4	1414	4	KCNA4	11	30033675	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	3474710	30033675	104972841	69	54823											
C11orf68	83638	broad.mit.edu	37	chr11	65685181	65685181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaacacagatgacctggcGcccaccctccttggcacgtg	9	7	10	15	2	0	2	0	1	0	1	1	2	1	2	4	2	1	2	4	2	2	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:65685181G>A	ENST00000438576.2	-	2	716	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	C11orf68_ENST00000449692.3_Missense_Mutation_p.R210C|C11orf68_ENST00000530188.1_Missense_Mutation_p.R169C			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	169										large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		ATGACCTGGCGCCCACCCTCC	0.637													8	30					0	0	0	0	A	65685181	G	A	65685181	3	1	306	1	0	0	0	0	1	0	0	0	1669	1087	38	1	254	1	C11orf68	11	65685181	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	35651506	65685181	69321335	70	54824											
UCP2	7351	broad.mit.edu	37	chr11	73689424	73689424	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggccttgaacccaaccatGatgctgatttcctgctacgt	8	12	9	12	1	0	3	0	3	0	0	1	3	1	3	4	1	5	2	4	1	3	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:73689424G>C	ENST00000310473.3	-	0	842				UCP2_ENST00000536983.1_De_novo_Start_InFrame	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)						proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					ACCCAACCATGATGCTGATTT	0.527													9	31					0	0	0	0	C	73689424	G	C	73689424	1	2	306	1	0	0	0	0	0	0	0	0	17027	1305	45	2		2	UCP2	11	73689424	Translation_Start_Site	SNP	G	TCGA-CV-7411-01A-11D-2078-08	8004243	73689424	61317092	71	54825											
GRIA4	2893	broad.mit.edu	37	chr11	105797542	105797542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atatcatcttatactgctaaCctcgctgctttcctgacggt	8	15	6	12	2	2	1	1	1	1	0	4	1	3	1	2	1	4	3	2	1	4	5			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:105797542C>A	ENST00000393127.2	+	13	2369	c.1923C>A	c.(1921-1923)aaC>aaA	p.N641K	GRIA4_ENST00000282499.5_Missense_Mutation_p.N641K|GRIA4_ENST00000525187.1_Missense_Mutation_p.N641K|GRIA4_ENST00000530497.1_Missense_Mutation_p.N641K	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	641					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATACTGCTAACCTCGCTGCTT	0.428													8	42					1.58986e-06	1.7324e-06	1	0	A	105797542	C	A	105797542	3	1	306	1	0	0	0	0	1	0	0	0	6820	506	18	4	2006	4	GRIA4	11	105797542	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	32108118	105797542	29208974	72	54826											
RNF214	257160	broad.mit.edu	37	chr11	117152363	117152363	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaggaacggagccaagctGagcagccttcctcaaatccc	11	6	11	13	1	1	2	1	2	0	0	3	4	3	4	4	2	5	2	4	2	3	1			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:117152363G>A	ENST00000530849.1	+	9	829	c.819G>A	c.(817-819)ctG>ctA	p.L273L	RNF214_ENST00000531452.1_Silent_p.L428L|RNF214_ENST00000300650.4_Silent_p.L428L|RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000531287.1_Silent_p.L273L			Q8ND24	RN214_HUMAN	ring finger protein 214	428							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GAGCCAAGCTGAGCAGCCTTC	0.453													25	125					0	0	0	0	A	117152363	G	A	117152363	2	1	306	1	0	0	0	0	0	0	0	1	13563	1277	45	2		2	RNF214	11	117152363	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	11354821	117152363	17854153	73	54827											
VPS11	55823	broad.mit.edu	37	chr11	118948900	118948900	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggccaactctgaggagttCatccccatctttgccaataa	11	11	7	12	0	3	1	1	1	2	0	4	2	4	2	4	2	2	1	4	2	4	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:118948900C>A	ENST00000300793.6	+	12	1818	c.1776C>A	c.(1774-1776)ttC>ttA	p.F592L	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	593					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CTGAGGAGTTCATCCCCATCT	0.532													32	134					4.31634e-10	5.05171e-10	1	0	A	118948900	C	A	118948900	3	1	306	1	0	0	0	0	1	0	0	0	17284	825	29	2	1820	2	VPS11	11	118948900	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	1796537	118948900	16057616	74	54828											
TECTA	7007	broad.mit.edu	37	chr11	121000377	121000377	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaagtggaattgccttttTtccatccttcggggaagctg	8	13	12	8	1	0	0	0	0	0	0	3	3	2	3	3	4	2	1	3	4	3	5			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:121000377T>C	ENST00000392793.1	+	10	2669	c.2398T>C	c.(2398-2400)Ttc>Ctc	p.F800L	TECTA_ENST00000264037.2_Missense_Mutation_p.F800L			O75443	TECTA_HUMAN	tectorin alpha	800	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATTGCCTTTTTTCCATCCTTC	0.438													25	69					0	0	0	0	C	121000377	T	C	121000377	3	2	306	1	0	0	0	0	1	0	0	0	15841	1841	64	5	2432	5	TECTA	11	121000377	Missense_Mutation	SNP	T	TCGA-CV-7411-01A-11D-2078-08	2051477	121000377	14006139	75	54829											
GRIN2B	2904	broad.mit.edu	37	chr12	13715902	13715902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccggcttgttggtgacaaGggcccggaagtccggcctgg	6	7	16	12	3	0	1	0	1	0	0	1	2	1	2	4	6	0	2	4	6	2	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:13715902G>A	ENST00000279593.3	-	13	4479	c.4270C>T	c.(4270-4272)Ctt>Ttt	p.L1424F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1424					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGGTGACAAGGGCCCGGAAG	0.622													13	27					0	0	0	0	A	13715902	G	A	13715902	3	1	306	1	0	0	0	0	1	0	0	0	6830	1000	35	4	188	4	GRIN2B	12	13715902	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08		13715902	120135993	76	54830											
DDX11	1663	broad.mit.edu	37	chr12	31242845	31242845	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaaggagctgaggaggaGaagccaaagaggaggaggca	18	1	18	4	0	0	4	0	1	0	3	0	9	0	8	1	6	2	2	1	6	4	0			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:31242845G>A	ENST00000407793.2	+	9	1157	c.906G>A	c.(904-906)gaG>gaA	p.E302E	DDX11_ENST00000228264.6_Silent_p.E276E|DDX11_ENST00000545668.1_Silent_p.E302E|DDX11_ENST00000350437.4_Silent_p.E302E|DDX11_ENST00000542838.1_Silent_p.E302E|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	302	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	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)					CTGAGGAGGAGAAGCCAAAGA	0.587										Multiple Myeloma(12;0.14)			6	8					0	0	0	0	A	31242845	G	A	31242845	2	1	306	1	0	0	0	0	0	0	0	1	4375	933	33	2		2	DDX11	12	31242845	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	17526943	31242845	102609050	77	54831											
FMNL3	91010	broad.mit.edu	37	chr12	50043581	50043581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcagcatgaagcggtcctCagctgccaactcctccaggg	9	6	12	14	1	1	1	1	1	0	0	4	2	4	1	4	2	6	3	4	2	2	0			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:50043581C>G	ENST00000335154.5	-	18	2361	c.2128G>C	c.(2128-2130)Gag>Cag	p.E710Q	FMNL3_ENST00000352151.5_Missense_Mutation_p.E659Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.E710Q|FMNL3_ENST00000293590.5_Missense_Mutation_p.E710Q	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	710	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						AAGCGGTCCTCAGCTGCCAAC	0.602													18	63					0	0	0	0	G	50043581	C	G	50043581	3	3	306	1	0	0	0	0	1	0	0	0	5998	835	29	2	991	2	FMNL3	12	50043581	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	18800736	50043581	83808314	78	54832											
PLXNC1	10154	broad.mit.edu	37	chr12	94641745	94641745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttaaagagttcaaaagtgCgcacgaatgtcactgtgaag	14	10	11	6	2	2	2	2	1	0	1	2	3	2	2	0	0	1	3	0	0	6	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:94641745C>T	ENST00000258526.4	+	13	2704	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	819					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.R819C(2)|p.R819G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCAAAAGTGCGCACGAATGT	0.463													17	62					0	0	0	0	T	94641745	C	T	94641745	3	4	306	1	0	0	0	0	1	0	0	0	12198	768	27	1	2505	1	PLXNC1	12	94641745	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	44598164	94641745	39210150	79	54833											
C12orf42	374470	broad.mit.edu	37	chr12	103795437	103795437	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcactgctcacaatgggaAtatagcaaggggatttctga	12	10	12	7	0	2	1	1	1	1	0	2	3	2	3	0	4	2	3	0	4	5	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:103795437A>C	ENST00000378113.2	-	3	320	c.95T>G	c.(94-96)aTt>aGt	p.I32S	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.I32S|C12orf42_ENST00000315192.8_Missense_Mutation_p.I32S	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	32										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CACAATGGGAATATAGCAAGG	0.443													7	18					0	0	0	0	C	103795437	A	C	103795437	3	2	306	1	0	0	0	0	1	0	0	0	1700	101	4	5	1003	5	C12orf42	12	103795437	Missense_Mutation	SNP	A	TCGA-CV-7411-01A-11D-2078-08	9153692	103795437	30056458	80	54834											
MYO1H	283446	broad.mit.edu	37	chr12	109845600	109845600	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgtcattcttttcaggTgatctgcccgttgacactag	7	15	8	11	1	4	2	2	2	2	0	4	2	4	2	2	1	1	1	2	1	1	6			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:109845600T>C	ENST00000310903.5	+	10	1095	c.987_splice	c.e10-1	p.V330_splice	MYO1H_ENST00000431443.2_Splice_Site_p.V330_splice|MYO1H_ENST00000542883.1_3'UTR			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TCTTTTCAGGTGATCTGCCCG	0.383													8	31					0	0	0	0	C	109845600	T	C	109845600	5	2	306	1	0	0	0	0	0	0	1	0	10145	1710	59	5	1023	5	MYO1H	12	109845600	Splice_Site	SNP	T	TCGA-CV-7411-01A-11D-2078-08	6050163	109845600	24006295	81	54835											
GCN1L1	10985	broad.mit.edu	37	chr12	120588998	120588998	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatggcatcagtcagtgcCgccatcatctcctgttgctt	6	13	10	12	1	4	0	3	0	1	0	5	1	4	1	3	2	2	3	3	2	0	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:120588998C>A	ENST00000300648.6	-	34	4272	c.4260G>T	c.(4258-4260)gcG>gcT	p.A1420A		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1420					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGTCAGTGCCGCCATCATCT	0.612													11	62					0.000978159	0.000997091	1	0	A	120588998	C	A	120588998	2	1	306	1	0	0	0	0	0	0	0	1	6348	639	23	3		3	GCN1L1	12	120588998	Silent	SNP	C	TCGA-CV-7411-01A-11D-2078-08	10743398	120588998	13262897	82	54836											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465689	24465689	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtaggtgaagtaatagacCccagcaatgtggcacgtgaa	13	8	13	7	1	0	3	0	2	0	1	0	3	0	3	2	3	1	4	2	3	6	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr13:24465689C>A	ENST00000382137.3	-	3	809	c.741G>T	c.(739-741)ggG>ggT	p.G247G	C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382140.2_Silent_p.G247G|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	247	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						AGTAATAGACCCCAGCAATGT	0.408													17	105					2.23348e-06	2.40062e-06	1	0	A	24465689	C	A	24465689	2	1	306	1	0	0	0	0	0	0	0	1	1990	610	22	4		4	C1QTNF9B	13	24465689	Silent	SNP	C	TCGA-CV-7411-01A-11D-2078-08		24465689	90704189	83	54837											
RXFP2	122042	broad.mit.edu	37	chr13	32367045	32367045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaacattcgacctggaaaaCggcagacctcagtcatcctc	12	8	8	13	2	2	1	2	0	0	1	5	3	3	2	3	2	2	2	3	2	3	2	rs142857153	byFrequency	TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr13:32367045C>T	ENST00000298386.2	+	16	1677	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	RXFP2_ENST00000380314.1_Missense_Mutation_p.R512W	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	536						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACCTGGAAAACGGCAGACCTC	0.428													7	31					0	0	0	0	T	32367045	C	T	32367045	3	4	306	1	0	0	0	0	1	0	0	0	13845	527	19	1	1668	1	RXFP2	13	32367045	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	7901356	32367045	82802833	84	54838											
SLC15A1	6564	broad.mit.edu	37	chr13	99376168	99376168	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagcaccaactcacacGtgcacaggaaggctgtcggg	11	5	13	12	2	1	1	1	1	0	0	2	2	1	2	1	3	3	3	1	3	2	0			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr13:99376168G>A	ENST00000376503.5	-	5	418	c.363C>T	c.(361-363)caC>caT	p.H121H		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	121					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CAACTCACACGTGCACAGGAA	0.512													7	35					0	0	0	0	A	99376168	G	A	99376168	2	1	306	1	0	0	0	0	0	0	0	1	14486	1136	40	1		1	SLC15A1	13	99376168	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	67009123	99376168	15793710	85	54839											
RPGRIP1	57096	broad.mit.edu	37	chr14	21788328	21788328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtattgcaagagaacactCagatcgaggtaagagcctct	13	9	10	9	1	2	3	1	0	1	3	3	5	2	3	1	1	3	3	1	1	4	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr14:21788328C>G	ENST00000206660.6	+	11	1459	c.1459C>G	c.(1459-1461)Cag>Gag	p.Q487E	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.Q487E|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.Q129E|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q460E|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q460E|RPGRIP1_ENST00000553500.1_3'UTR			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	487					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGAGAACACTCAGATCGAGGT	0.448													3	20					0	0	0	0	G	21788328	C	G	21788328	3	3	306	1	0	0	0	0	1	0	0	0	13634	827	29	2	1501	2	RPGRIP1	14	21788328	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08		21788328	85561212	86	54840											
SERPINA1	5265	broad.mit.edu	37	chr14	94847230	94847230	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtcttcattttccaggaActtggtgatgatatcgtggg	7	16	11	7	1	3	2	1	2	2	0	5	3	4	3	1	3	1	0	1	3	2	5			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr14:94847230A>C	ENST00000448921.1	-	5	1467	c.895T>G	c.(895-897)Ttc>Gtc	p.F299V	SERPINA1_ENST00000437397.1_Missense_Mutation_p.F299V|SERPINA1_ENST00000355814.4_Missense_Mutation_p.F299V|SERPINA1_ENST00000402629.1_Missense_Mutation_p.F299V|SERPINA1_ENST00000449399.3_Missense_Mutation_p.F299V|SERPINA1_ENST00000393087.4_Missense_Mutation_p.F299V|SERPINA1_ENST00000393088.4_Missense_Mutation_p.F299V|SERPINA1_ENST00000440909.1_Missense_Mutation_p.F299V|SERPINA1_ENST00000404814.4_Missense_Mutation_p.F299V	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	299					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TTTTCCAGGAACTTGGTGATG	0.517													10	70					0	0	0	0	C	94847230	A	C	94847230	3	2	306	1	0	0	0	0	1	0	0	0	14173	43	2	5	373	5	SERPINA1	14	94847230	Missense_Mutation	SNP	A	TCGA-CV-7411-01A-11D-2078-08	73058902	94847230	12502310	87	54841											
CLMN	79789	broad.mit.edu	37	chr14	95658065	95658065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcttctcctgagctgttggCcttcctacagaagaaacaca	10	10	9	12	0	1	3	0	1	1	2	3	3	2	3	3	2	3	3	3	2	3	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr14:95658065C>T	ENST00000298912.4	-	13	2958	c.2845G>A	c.(2845-2847)Gcc>Acc	p.A949T	CLMN_ENST00000556441.1_Splice_Site_p.A14_splice|CLMN_ENST00000557215.1_5'UTR	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	949						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GAGCTGTTGGCCTTCCTACAG	0.567													9	39					0	0	0	0	T	95658065	C	T	95658065	3	4	306	1	0	0	0	0	1	0	0	0	3572	739	26	4	167	4	CLMN	14	95658065	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	810835	95658065	11691475	88	54842											
TUBGCP5	114791	broad.mit.edu	37	chr15	22861874	22861874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaagatgcagtccattGctgaaagccatcttgaactg	12	11	10	8	0	1	5	0	4	1	1	2	5	2	5	2	0	4	2	2	0	3	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:22861874G>A	ENST00000283645.4	+	14	2024	c.1894G>A	c.(1894-1896)Gct>Act	p.A632T	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.A632T|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	632					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GCAGTCCATTGCTGAAAGCCA	0.458													11	70					0	0	0	0	A	22861874	G	A	22861874	3	1	306	1	0	0	0	0	1	0	0	0	16865	1319	46	4	1948	4	TUBGCP5	15	22861874	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08		22861874	79669518	89	54843											
RYR3	6263	broad.mit.edu	37	chr15	34115205	34115205	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcccttgcagaaaatgctAgattacctaaaggagaaaaa	17	9	7	8	0	1	3	0	0	1	3	2	4	1	3	2	1	3	2	2	1	8	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:34115205A>G	ENST00000389232.4	+	81	11074	c.11004A>G	c.(11002-11004)ctA>ctG	p.L3668L	RYR3_ENST00000415757.3_Silent_p.L3663L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3668					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAAAATGCTAGATTACCTAA	0.433													5	34					0	0	0	0	G	34115205	A	G	34115205	2	3	306	1	0	0	0	0	0	0	0	1	13855	407	15	5		5	RYR3	15	34115205	Silent	SNP	A	TCGA-CV-7411-01A-11D-2078-08	11253331	34115205	68416187	90	54844											
CEP152	22995	broad.mit.edu	37	chr15	49052415	49052415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgatactctgccagctctgGtagttctcccagccatcgct	6	13	8	14	1	3	1	0	1	3	0	5	1	3	1	3	1	4	4	3	1	2	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:49052415G>A	ENST00000380950.2	-	19	2798	c.2611C>T	c.(2611-2613)Cca>Tca	p.P871S	CEP152_ENST00000325747.5_Missense_Mutation_p.P778S|CEP152_ENST00000399334.3_Missense_Mutation_p.P871S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	871					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCCAGCTCTGGTAGTTCTCCC	0.428													17	66					0	0	0	0	A	49052415	G	A	49052415	3	1	306	1	0	0	0	0	1	0	0	0	3277	1261	44	4	2385	4	CEP152	15	49052415	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	14937210	49052415	53478977	91	54845											
RNF111	54778	broad.mit.edu	37	chr15	59350644	59350644	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaatccatctacctctgagCaggcctctgatactgcttca	10	11	6	14	0	4	2	1	2	3	0	5	2	5	2	3	1	4	2	3	1	3	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:59350644C>T	ENST00000348370.4	+	5	1694	c.1261C>T	c.(1261-1263)Cag>Tag	p.Q421*	RNF111_ENST00000559209.1_Nonsense_Mutation_p.Q421*|RNF111_ENST00000557998.1_Nonsense_Mutation_p.Q421*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.Q421*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.Q421*	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	421	Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TACCTCTGAGCAGGCCTCTGA	0.443													19	207					0	0	0	0	T	59350644	C	T	59350644	4	4	306	1	0	0	0	0	0	1	0	0	13510	711	25	4	1275	4	RNF111	15	59350644	Nonsense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	10298229	59350644	43180748	92	54846											
IGDCC4	57722	broad.mit.edu	37	chr15	65693167	65693167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcggacccaggacacaaaaGgggtggggtcagctgaggcc	10	4	17	10	1	1	1	1	1	0	0	2	3	1	3	2	7	1	1	2	7	2	0			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:65693167G>A	ENST00000352385.2	-	5	1027	c.818C>T	c.(817-819)cCt>cTt	p.P273L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	273	Ig-like C2-type 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGACACAAAAGGGGTGGGGTC	0.612											OREG0023196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	71					0	0	0	0	A	65693167	G	A	65693167	3	1	306	1	0	0	0	0	1	0	0	0	7622	1000	35	4	2998	4	IGDCC4	15	65693167	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	6342523	65693167	36838225	93	54847											
CHD2	1106	broad.mit.edu	37	chr15	93547934	93547934	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagtgaacctgtccccAttggagaggatgaggatgat	12	8	14	7	0	0	4	0	3	0	1	1	8	1	7	3	4	1	0	3	4	2	1			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:93547934A>T	ENST00000394196.4	+	34	5434	c.4366A>T	c.(4366-4368)Att>Ttt	p.I1456F	CHD2_ENST00000557381.1_Missense_Mutation_p.I1456F	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1456					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ACCTGTCCCCATTGGAGAGGA	0.478													11	71					0	0	0	0	T	93547934	A	T	93547934	3	4	306	1	0	0	0	0	1	0	0	0	3354	217	8	5	4500	5	CHD2	15	93547934	Missense_Mutation	SNP	A	TCGA-CV-7411-01A-11D-2078-08	27854767	93547934	8983458	94	54848											
RGMA	56963	broad.mit.edu	37	chr15	93595681	93595681	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaggctggggcgtggctgcCcgacgtggcgctccagaact	5	7	17	12	4	0	2	0	1	0	1	1	3	1	2	2	5	2	3	2	5	1	0			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:93595681C>A	ENST00000329082.7	-	3	458	c.187G>T	c.(187-189)Ggc>Tgc	p.G63C	RGMA_ENST00000556087.1_Missense_Mutation_p.G47C|RGMA_ENST00000542321.2_Missense_Mutation_p.G47C|RGMA_ENST00000555584.1_5'UTR|RGMA_ENST00000557301.1_Missense_Mutation_p.G71C|RGMA_ENST00000425933.2_Missense_Mutation_p.G47C|RGMA_ENST00000543599.1_Missense_Mutation_p.G47C|RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000538818.1_5'UTR	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	63					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCGTGGCTGCCCGACGTGGCG	0.672													3	15					0.00909568	0.00915361	1	0	A	93595681	C	A	93595681	3	1	306	1	0	0	0	0	1	0	0	0	13362	623	22	4	1173	4	RGMA	15	93595681	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	47747	93595681	8935711	95	54849											
TNRC6A	27327	broad.mit.edu	37	chr16	24829935	24829935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcatcctcatccttgaacaCcacgctgccttcaactagtg	9	11	6	15	1	3	1	3	1	0	0	5	1	5	1	4	0	3	1	4	0	3	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:24829935C>T	ENST00000395799.3	+	21	5123	c.4994C>T	c.(4993-4995)aCc>aTc	p.T1665I	TNRC6A_ENST00000432286.2_Missense_Mutation_p.T143I|TNRC6A_ENST00000315183.7_Missense_Mutation_p.T1616I|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1665					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCCTTGAACACCACGCTGCCT	0.532													3	31					0	0	0	0	T	24829935	C	T	24829935	3	4	306	1	0	0	0	0	1	0	0	0	16434	507	18	4	5076	4	TNRC6A	16	24829935	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08		24829935	65524818	96	54850											
ATP2A1	487	broad.mit.edu	37	chr16	28906272	28906272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagccaacgcctgcaacTcggtgagcctgcggagcccc	9	4	13	15	3	0	2	0	1	0	1	1	4	0	3	5	2	7	1	5	2	2	0			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:28906272T>C	ENST00000395503.4	+	12	1601	c.1417T>C	c.(1417-1419)Tcg>Ccg	p.S473P	ATP2A1_ENST00000357084.3_Missense_Mutation_p.S473P|ATP2A1_ENST00000536376.1_Missense_Mutation_p.S348P	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	473					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CGCCTGCAACTCGGTGAGCCT	0.602													4	21					0	0	0	0	C	28906272	T	C	28906272	3	2	306	1	0	0	0	0	1	0	0	0	1140	1551	54	5	1463	5	ATP2A1	16	28906272	Missense_Mutation	SNP	T	TCGA-CV-7411-01A-11D-2078-08	4076337	28906272	61448481	97	54851											
CCDC135	84229	broad.mit.edu	37	chr16	57762377	57762377	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccccattcctggcccagCtcccgccaggagagaaacta	9	6	10	16	1	0	1	0	0	0	1	2	3	2	2	6	3	2	1	6	3	2	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:57762377C>A	ENST00000360716.3	+	17	2493	c.2272C>A	c.(2272-2274)Ctc>Atc	p.L758I	CCDC135_ENST00000336825.8_Missense_Mutation_p.L693I|CCDC135_ENST00000394337.4_Missense_Mutation_p.L758I			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	758						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCTGGCCCAGCTCCCGCCAGG	0.602													13	72					2.27111e-07	2.50934e-07	1	0	A	57762377	C	A	57762377	3	1	306	1	0	0	0	0	1	0	0	0	2794	797	28	4	2330	4	CCDC135	16	57762377	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	28856105	57762377	32592376	98	54852											
DHX38	9785	broad.mit.edu	37	chr16	72139499	72139499	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggcatcatgtttgttatCgattctggttattgcaaatt	9	17	9	6	2	2	0	1	0	1	0	3	2	2	0	0	2	1	5	0	2	3	6			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:72139499C>A	ENST00000268482.3	+	18	2972	c.2463C>A	c.(2461-2463)atC>atA	p.I821I	DHX38_ENST00000536867.1_Silent_p.I133I	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	821	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGTTTGTTATCGATTCTGGTT	0.512													8	44					3.09899e-07	3.40028e-07	1	0	A	72139499	C	A	72139499	2	1	306	1	0	0	0	0	0	0	0	1	4548	874	31	3		3	DHX38	16	72139499	Silent	SNP	C	TCGA-CV-7411-01A-11D-2078-08	14377122	72139499	18215254	99	54853											
SDR42E1	93517	broad.mit.edu	37	chr16	82033306	82033306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgtagctgactatcctggGaaggtgtctttgttctccag	7	14	12	8	0	2	1	0	1	2	0	4	3	3	2	2	2	1	3	2	2	3	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:82033306G>T	ENST00000328945.5	-	3	719	c.592C>A	c.(592-594)Ccc>Acc	p.P198T		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	198					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						ACTATCCTGGGAAGGTGTCTT	0.562													19	100					1.50039e-11	1.76912e-11	1	0	T	82033306	G	T	82033306	3	4	306	1	0	0	0	0	1	0	0	0	14060	1174	41	2	593	2	SDR42E1	16	82033306	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	9893807	82033306	8321447	100	54854											
P2RX1	5023	broad.mit.edu	37	chr17	3802281	3802281	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacaccttgaagaggtgacGgtagttggtcccgttctcca	10	10	11	10	2	1	3	0	2	1	1	3	3	2	3	3	3	1	3	3	3	3	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:3802281G>C	ENST00000225538.3	-	9	1187	c.913C>G	c.(913-915)Cgt>Ggt	p.R305G		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	305					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		AAGAGGTGACGGTAGTTGGTC	0.562													20	80					0	0	0	0	C	3802281	G	C	3802281	3	2	306	1	0	0	0	0	1	0	0	0	11410	1116	39	3	302	3	P2RX1	17	3802281	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08		3802281	77392929	101	54855											
GUCY2D	3000	broad.mit.edu	37	chr17	7907216	7907216	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgggtggcgaggagcaGcgctacctcctggaggccgc	5	6	17	13	3	0	0	0	0	0	0	1	3	1	2	3	5	4	3	3	5	1	1			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:7907216G>A	ENST00000254854.4	+	3	918	c.768G>A	c.(766-768)caG>caA	p.Q256Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	256					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GCGAGGAGCAGCGCTACCTCC	0.692													11	46					0	0	0	0	A	7907216	G	A	7907216	2	1	306	1	0	0	0	0	0	0	0	1	6947	962	34	4		4	GUCY2D	17	7907216	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	4104935	7907216	73287994	102	54856											
DHRS7B	25979	broad.mit.edu	37	chr17	21094308	21094308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccctgtggaggtggccCaggatgttcttgctgctgtg	5	11	16	9	0	1	0	0	0	1	0	1	3	1	2	2	4	3	3	2	4	1	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:21094308C>G	ENST00000395511.3	+	7	1140	c.820C>G	c.(820-822)Cag>Gag	p.Q274E	DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_Missense_Mutation_p.Q259E	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	274						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						GGAGGTGGCCCAGGATGTTCT	0.498													17	90					0	0	0	0	G	21094308	C	G	21094308	3	3	306	1	0	0	0	0	1	0	0	0	4533	595	21	4	846	4	DHRS7B	17	21094308	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	13187092	21094308	60100902	103	54857											
NF1	4763	broad.mit.edu	37	chr17	29683523	29683523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatcagacacaaaggctcCtaaaaggcaagaaatggaat	19	6	9	7	0	1	2	1	0	0	2	2	4	2	3	1	3	0	2	1	3	7	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:29683523C>T	ENST00000358273.4	+	52	8044	c.7661C>T	c.(7660-7662)cCt>cTt	p.P2554L	NF1_ENST00000356175.3_Missense_Mutation_p.P2533L|NF1_ENST00000444181.2_Missense_Mutation_p.P347L|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2554					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAAAGGCTCCTAAAAGGCAA	0.358			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			9	49					0	0	0	0	T	29683523	C	T	29683523	3	4	306	1	0	0	0	0	1	0	0	0	10426	681	24	4	7928	4	NF1	17	29683523	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	8589215	29683523	51511687	104	54858											
AOC2	314	broad.mit.edu	37	chr17	40997732	40997732	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagtgtccaggagtgtgtAtctatctatggtgccgattc	7	14	12	8	1	3	0	1	0	2	0	5	2	4	1	2	2	1	1	2	2	3	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:40997732A>T	ENST00000253799.3	+	1	1116	c.1089A>T	c.(1087-1089)gtA>gtT	p.V363V	AOC2_ENST00000452774.2_Silent_p.V363V	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	363					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGAGTGTGTATCTATCTATG	0.532													28	105					0	0	0	0	T	40997732	A	T	40997732	2	4	306	1	0	0	0	0	0	0	0	1	728	436	16	5		5	AOC2	17	40997732	Silent	SNP	A	TCGA-CV-7411-01A-11D-2078-08	11314209	40997732	40197478	105	54859											
TBX2	6909	broad.mit.edu	37	chr17	59477583	59477583	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgccatggcttaccacccgTtccacgcgccacggcccgcc	5	5	10	21	6	0	0	0	0	0	0	1	0	1	0	7	2	1	2	7	2	1	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:59477583T>A	ENST00000240328.3	+	1	327	c.46T>A	c.(46-48)Ttc>Atc	p.F16I	RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	16					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						TTACCACCCGTTCCACGCGCC	0.796													4	18					0	0	0	0	A	59477583	T	A	59477583	3	1	306	1	0	0	0	0	1	0	0	0	15749	1725	60	5	48	5	TBX2	17	59477583	Missense_Mutation	SNP	T	TCGA-CV-7411-01A-11D-2078-08	18479851	59477583	21717627	106	54860											
MRC2	9902	broad.mit.edu	37	chr17	60744755	60744755	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccctccccacagaccaGccggacaaccccagtgagga	10	3	9	19	1	0	2	0	1	0	1	1	4	1	4	8	2	3	0	8	2	1	0			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:60744755G>C	ENST00000303375.5	+	6	1380	c.978G>C	c.(976-978)caG>caC	p.Q326H		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	326	C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCACAGACCAGCCGGACAACC	0.667													5	30					0	0	0	0	C	60744755	G	C	60744755	3	2	306	1	0	0	0	0	1	0	0	0	9828	962	34	4	1000	4	MRC2	17	60744755	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	1267172	60744755	20450455	107	54861											
MYOM1	8736	broad.mit.edu	37	chr18	3102583	3102583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcacactcgaagttcaatGaaatgactccatcatcatcc	14	11	4	12	1	4	2	4	2	0	0	7	3	6	2	2	0	0	1	2	0	4	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:3102583G>A	ENST00000400569.3	-	23	3797	c.3464C>T	c.(3463-3465)tCa>tTa	p.S1155L	MYOM1_ENST00000261606.7_Missense_Mutation_p.S1059L|MYOM1_ENST00000356443.4_Missense_Mutation_p.S1155L			P52179	MYOM1_HUMAN	myomesin 1	1155	Ig-like C2-type 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAAGTTCAATGAAATGACTCC	0.428													22	81					0	0	0	0	A	3102583	G	A	3102583	3	1	306	1	0	0	0	0	1	0	0	0	10161	1294	45	2	1657	2	MYOM1	18	3102583	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08		3102583	74974665	108	54862											
SPIRE1	56907	broad.mit.edu	37	chr18	12454464	12454464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaagagcgaggcattccaCtgggtagcagaattcctcct	11	9	11	10	1	0	2	0	0	0	2	3	3	3	2	3	2	2	4	3	2	3	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:12454464C>T	ENST00000409402.4	-	13	1924	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Missense_Mutation_p.V539M|SPIRE1_ENST00000383356.2_Missense_Mutation_p.V380M|SPIRE1_ENST00000309836.5_Missense_Mutation_p.V342M|SPIRE1_ENST00000453447.2_Missense_Mutation_p.V419M	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	553						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AGGCATTCCACTGGGTAGCAG	0.453													4	103					0	0	0	0	T	12454464	C	T	12454464	3	4	306	1	0	0	0	0	1	0	0	0	15161	565	20	4	633	4	SPIRE1	18	12454464	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	9351881	12454464	65622784	109	54863											
DSG3	1830	broad.mit.edu	37	chr18	29052346	29052346	+	Frame_Shift_Del	DEL	T	T	-																															tgatggctcagaaggaacaaTtcatcagtggggaattgaag																										TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:29052346delT	ENST00000257189.4	+	13	2080	c.1997delT	c.(1996-1998)atfs	p.I666fs		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	666					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAAGGAACAATTCATCAGTGG	0.453													13	42	---	---	---	---					-	29052346	T	-	29052346	7	5	306	1	0	1	0	1	0	0	0	0	4814	1493	52	0	2047	0	DSG3	18	29052346	Frame_Shift_Del	DEL	T	TCGA-CV-7411-01A-11D-2078-08	16597882	29052346	49024902	110	54864											
DSG2	1829	broad.mit.edu	37	chr18	29104786	29104786	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgcatcaggaaatGaaggaggttatttccacata	14	13	8	6	0	1	1	1	1	0	0	2	3	2	3	1	3	2	2	1	3	5	5			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:29104786G>T	ENST00000261590.8	+	8	1158	c.949G>T	c.(949-951)Gaa>Taa	p.E317*		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	317	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.E317K(1)		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)			ATCAGGAAATGAAGGAGGTTA	0.378													12	25					1.08611e-07	1.21706e-07	1	0	T	29104786	G	T	29104786	4	4	306	1	0	0	0	0	0	1	0	0	4813	1291	45	2	979	2	DSG2	18	29104786	Nonsense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	52440	29104786	48972462	111	54865											
MIDN	90007	broad.mit.edu	37	chr19	1257108	1257108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgggacgcgcggggtcCgtaccactggtcacccagcc	5	4	15	17	6	1	0	1	0	0	0	2	1	2	1	5	5	2	1	5	5	1	1			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:1257108C>T	ENST00000300952.2	+	8	1759	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L	MIDN_ENST00000591446.2_Missense_Mutation_p.P415L	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	415						nucleolus		p.P415L(1)		NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GCGCGGGGTCCGTACCACTGG	0.706													4	28					0	0	0	0	T	1257108	C	T	1257108	3	4	306	1	0	0	0	0	1	0	0	0	9648	652	23	1	1270	1	MIDN	19	1257108	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08		1257108	57871875	112	54866											
KHSRP	8570	broad.mit.edu	37	chr19	6416646	6416646	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtctgctggtttatggctTtcacattctcgccacctgca	5	14	8	14	2	3	0	1	0	2	0	4	0	3	0	3	2	2	4	3	2	1	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:6416646T>A	ENST00000398148.3	-	14	1435	c.1343A>T	c.(1342-1344)aAa>aTa	p.K448I		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	448	Gly-rich.|KH 4.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTTTATGGCTTTCACATTCTC	0.602													4	27					0	0	0	0	A	6416646	T	A	6416646	3	1	306	1	0	0	0	0	1	0	0	0	8202	1841	64	5	820	5	KHSRP	19	6416646	Missense_Mutation	SNP	T	TCGA-CV-7411-01A-11D-2078-08	5159538	6416646	52712337	113	54867			1	83		2	2	18	T		7.24857e-05
KHSRP	8570	broad.mit.edu	37	chr19	6416663	6416663	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcacattctcgccaccTgcagaaacgcagaaggtgaa	12	8	9	12	2	2	3	1	1	1	2	3	3	2	3	2	1	2	3	2	1	3	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:6416663T>A	ENST00000398148.3	-	14	1420		c.e14-2			NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TCTCGCCACCTGCAGAAACGC	0.602													7	30					0	0	0	0	A	6416663	T	A	6416663	5	1	306	1	0	0	0	0	0	0	1	0	8202	1594	55	5	837	5	KHSRP	19	6416663	Splice_Site	SNP	T	TCGA-CV-7411-01A-11D-2078-08	17	6416663	52712320	114	54868			1	83		2	2	18	T		7.24857e-05
AKAP8	10270	broad.mit.edu	37	chr19	15484099	15484099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggcggtaggggttgtgctCcggcaggcagggcctggagt	4	7	22	8	2	0	0	0	0	0	0	1	1	1	1	2	9	1	5	2	9	1	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:15484099C>T	ENST00000269701.2	-	5	484	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	142					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GGGTTGTGCTCCGGCAGGCAG	0.627													4	23					0	0	0	0	T	15484099	C	T	15484099	3	4	306	1	0	0	0	0	1	0	0	0	457	864	30	2	1694	2	AKAP8	19	15484099	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	9067436	15484099	43644884	115	54869											
ZNF98	148198	broad.mit.edu	37	chr19	22575526	22575526	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgtcctatcttatgtcTgtttgaatttgaaaatttat	11	20	6	4	0	2	2	0	2	2	0	3	2	3	2	1	0	0	2	1	0	7	7			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:22575526T>C	ENST00000357774.5	-	4	632	c.511A>G	c.(511-513)Aga>Gga	p.R171G		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ATCTTATGTCTGTTTGAATTT	0.299													4	17					0	0	0	0	C	22575526	T	C	22575526	3	2	306	1	0	0	0	0	1	0	0	0	18296	1588	55	5	1211	5	ZNF98	19	22575526	Missense_Mutation	SNP	T	TCGA-CV-7411-01A-11D-2078-08	7091427	22575526	36553457	116	54870											
NLRP9	338321	broad.mit.edu	37	chr19	56235505	56235505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtccaaagtacacagaaGtaaatctgcaaaagattaaa	20	8	6	7	0	1	2	0	0	1	2	2	2	2	2	1	0	2	3	1	0	9	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:56235505G>A	ENST00000332836.2	-	4	2027	c.2000C>T	c.(1999-2001)aCt>aTt	p.T667I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	667						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTACACAGAAGTAAATCTGCA	0.423													4	25					0	0	0	0	A	56235505	G	A	56235505	3	1	306	1	0	0	0	0	1	0	0	0	10554	1029	36	4	999	4	NLRP9	19	56235505	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	33659979	56235505	2893478	117	54871											
NLRP9	338321	broad.mit.edu	37	chr19	56244753	56244753	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaggaccttccaggacCacagtgtgtcgtctagccgc	8	8	10	15	2	2	0	1	0	1	0	4	2	3	2	5	2	1	0	5	2	1	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:56244753C>T	ENST00000332836.2	-	2	471	c.444G>A	c.(442-444)gtG>gtA	p.V148V		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	148	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTTCCAGGACCACAGTGTGTC	0.433													7	51					0	0	0	0	T	56244753	C	T	56244753	2	4	306	1	0	0	0	0	0	0	0	1	10554	581	21	4		4	NLRP9	19	56244753	Silent	SNP	C	TCGA-CV-7411-01A-11D-2078-08	9248	56244753	2884230	118	54872											
USP29	57663	broad.mit.edu	37	chr19	57642147	57642147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaaaccaatacattcgtaGagttcaattttgacagtgtc	15	12	7	7	1	1	3	1	1	0	2	3	3	1	3	1	0	2	2	1	0	6	6			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:57642147G>C	ENST00000254181.4	+	4	2558	c.2104G>C	c.(2104-2106)Gag>Cag	p.E702Q	USP29_ENST00000598197.1_Missense_Mutation_p.E702Q	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	702					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TACATTCGTAGAGTTCAATTT	0.443													15	40					0	0	0	0	C	57642147	G	C	57642147	3	2	306	1	0	0	0	0	1	0	0	0	17155	943	33	2	2106	2	USP29	19	57642147	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	1397394	57642147	1486836	119	54873											
RBCK1	10616	broad.mit.edu	37	chr20	402811	402811	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgcaacagccaggaggcgGaggtctcctgccccttcatt	7	8	11	15	2	2	0	1	0	1	0	4	2	3	2	5	4	3	1	5	4	1	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr20:402811G>T	ENST00000356286.5	+	8	1663	c.958G>T	c.(958-960)Gag>Tag	p.E320*	RBCK1_ENST00000382181.2_Nonsense_Mutation_p.E150*|RBCK1_ENST00000353660.3_Nonsense_Mutation_p.E278*	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	320					interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCAGGAGGCGGAGGTCTCCTG	0.612													20	72					3.51602e-12	4.20857e-12	1	0	T	402811	G	T	402811	4	4	306	1	0	0	0	0	0	1	0	0	13189	1175	41	2	1007	2	RBCK1	20	402811	Nonsense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08		402811	62622709	120	54874											
PLCG1	5335	broad.mit.edu	37	chr20	39793623	39793623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagcattgcccagcagaGaaacatggcccaatacttca	13	7	8	13	0	1	1	1	0	0	1	1	2	1	1	2	1	6	3	2	1	3	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr20:39793623G>A	ENST00000373272.2	+	13	1673	c.1268G>A	c.(1267-1269)aGa>aAa	p.R423K	PLCG1_ENST00000244007.3_Missense_Mutation_p.R423K|PLCG1_ENST00000373271.1_Missense_Mutation_p.R423K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	423	PI-PLC X-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCCCAGCAGAGAAACATGGCC	0.567													8	33					0	0	0	0	A	39793623	G	A	39793623	3	1	306	1	0	0	0	0	1	0	0	0	12107	942	33	2	1318	2	PLCG1	20	39793623	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	39390812	39793623	23231897	121	54875											
CHRNA4	1137	broad.mit.edu	37	chr20	61978195	61978195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtcgatgaccatggccacGtacttccagtcctccttcac	7	10	8	16	3	1	1	1	1	0	0	5	2	4	1	5	2	1	1	5	2	1	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr20:61978195G>A	ENST00000370263.4	-	6	2000	c.1779C>T	c.(1777-1779)taC>taT	p.Y593Y	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	593					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCATGGCCACGTACTTCCAGT	0.682													3	44					0	0	0	0	A	61978195	G	A	61978195	2	1	306	1	0	0	0	0	0	0	0	1	3414	1140	40	1		1	CHRNA4	20	61978195	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	22184572	61978195	1047325	122	54876											
CHAF1B	8208	broad.mit.edu	37	chr21	37769777	37769777	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaacctgggaccctttGggtcaatatgttgctactct	8	13	11	9	0	2	0	1	0	1	0	2	2	2	2	2	3	3	3	2	3	4	5			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr21:37769777G>A	ENST00000314103.4	+	6	697	c.546G>A	c.(544-546)ttG>ttA	p.L182L	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	182					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GGGACCCTTTGGGTCAATATG	0.363													11	34					0	0	0	0	A	37769777	G	A	37769777	2	1	306	1	0	0	0	0	0	0	0	1	3341	1339	47	4		4	CHAF1B	21	37769777	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08		37769777	10360118	123	54877											
SEC14L4	284904	broad.mit.edu	37	chr22	30887573	30887573	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcttacagacgccagcctgGaggcaggtgaggctcccatc	8	7	12	14	1	1	2	0	1	1	1	3	3	2	3	3	4	2	2	3	4	1	1	rs141872549		TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:30887573G>A	ENST00000392772.2	-	11	1183	c.906C>T	c.(904-906)ctC>ctT	p.L302L	SEC14L4_ENST00000540456.1_Silent_p.L341L|SEC14L4_ENST00000381982.3_Silent_p.L356L|SEC14L4_ENST00000255858.7_Silent_p.L356L			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	356	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CGCCAGCCTGGAGGCAGGTGA	0.617													8	76					0	0	0	0	A	30887573	G	A	30887573	2	1	306	1	0	0	0	0	0	0	0	1	14071	1161	41	2		2	SEC14L4	22	30887573	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08		30887573	20416993	124	54878											
SREBF2	6721	broad.mit.edu	37	chr22	42266924	42266924	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagatcatcaagacagAttcccttgttttgaccacac	11	11	6	13	0	3	4	3	1	0	3	4	4	4	4	3	0	0	1	3	0	1	4			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:42266924A>T	ENST00000361204.4	+	4	918	c.752A>T	c.(751-753)gAt>gTt	p.D251V		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	251	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATCAAGACAGATTCCCTTGTT	0.502													23	95					0	0	0	0	T	42266924	A	T	42266924	3	4	306	1	0	0	0	0	1	0	0	0	15232	333	12	5	766	5	SREBF2	22	42266924	Missense_Mutation	SNP	A	TCGA-CV-7411-01A-11D-2078-08	11379351	42266924	9037642	125	54879											
TNFRSF13C	115650	broad.mit.edu	37	chr22	42322147	42322147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctctgcggaggacgcgccgcGaagccgccgctgtcgccgcc	4	4	15	18	9	1	0	0	0	1	0	2	3	1	2	5	2	2	1	5	2	1	0			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:42322147G>C	ENST00000291232.3	-	2	369	c.325C>G	c.(325-327)Cgc>Ggc	p.R109G		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	109						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						GACGCGCCGCGAAGCCGCCGC	0.731													5	23					0	0	0	0	C	42322147	G	C	42322147	3	2	306	1	0	0	0	0	1	0	0	0	16382	1058	37	3	237	3	TNFRSF13C	22	42322147	Missense_Mutation	SNP	G	TCGA-CV-7411-01A-11D-2078-08	55223	42322147	8982419	126	54880											
TNFRSF13C	115650	broad.mit.edu	37	chr22	42322238	42322238	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagcgcgggggcgccaaaGagcagcccgggcaggggcag	9	0	20	12	4	0	1	0	0	0	1	0	1	0	1	2	5	4	4	2	5	1	0			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:42322238G>C	ENST00000291232.3	-	2	278	c.234C>G	c.(232-234)ctC>ctG	p.L78L		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	78						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						GGGCGCCAAAGAGCAGCCCGG	0.791													3	6					0	0	0	0	C	42322238	G	C	42322238	2	2	306	1	0	0	0	0	0	0	0	1	16382	929	33	2		2	TNFRSF13C	22	42322238	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	91	42322238	8982328	127	54881											
EFCAB6	64800	broad.mit.edu	37	chr22	44063042	44063042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgctgaagtcaagaaatCgttttttgaatgccgggtcc	9	13	10	9	2	1	3	1	2	0	1	3	3	2	3	3	1	2	2	3	1	4	4	rs148107489	byFrequency	TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:44063042C>T	ENST00000262726.7	-	17	2178	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R490Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	642	EF-hand 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTCAAGAAATCGTTTTTTGAA	0.403													13	110					0	0	0	0	T	44063042	C	T	44063042	3	4	306	1	0	0	0	0	1	0	0	0	4975	884	31	1	2644	1	EFCAB6	22	44063042	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	1740804	44063042	7241524	128	54882											
ATP7A	538	broad.mit.edu	37	chrX	77245061	77245061	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtagtttctttagagaatAggtctgccattgtgaagtat	11	16	10	4	0	2	2	0	1	2	1	2	3	2	2	1	1	1	3	1	1	7	8			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:77245061A>T	ENST00000341514.6	+	4	1098	c.943A>T	c.(943-945)Agg>Tgg	p.R315W	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.R315W	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	315	HMA 3.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TTTAGAGAATAGGTCTGCCAT	0.388													34	166					0	0	0	0	T	77245061	A	T	77245061	3	4	306	1	0	0	0	0	1	0	0	0	1194	411	15	5	953	5	ATP7A	23	77245061	Missense_Mutation	SNP	A	TCGA-CV-7411-01A-11D-2078-08		77245061	78025499	129	54883											
DRP2	1821	broad.mit.edu	37	chrX	100497333	100497333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgttcaaagaagaattctCccccatgaaagatggagtaa	15	9	9	8	0	2	4	1	1	1	3	3	5	2	5	2	1	0	3	2	1	5	3			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:100497333C>A	ENST00000395209.3	+	8	1375	c.848C>A	c.(847-849)tCc>tAc	p.S283Y	DRP2_ENST00000538510.1_Missense_Mutation_p.S283Y|DRP2_ENST00000541709.1_Missense_Mutation_p.S205Y|DRP2_ENST00000402866.1_Missense_Mutation_p.S283Y	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	283					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GAAGAATTCTCCCCCATGAAA	0.478													46	226					8.20599e-20	9.8973e-20	1	0	A	100497333	C	A	100497333	3	1	306	1	0	0	0	0	1	0	0	0	4800	855	30	2	870	2	DRP2	23	100497333	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	23252272	100497333	54773227	130	54884											
KIAA1210	57481	broad.mit.edu	37	chrX	118222748	118222748	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaaactttttgattctgaGaagacttcttgttcatcttc	11	17	5	8	0	4	3	1	2	3	2	5	4	4	3	0	0	1	1	0	0	3	7			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:118222748G>A	ENST00000402510.2	-	11	2444	c.2445C>T	c.(2443-2445)ttC>ttT	p.F815F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	815										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTGATTCTGAGAAGACTTCTT	0.483													6	28					0	0	0	0	A	118222748	G	A	118222748	2	1	306	1	0	0	0	0	0	0	0	1	8265	933	33	2		2	KIAA1210	23	118222748	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	17725415	118222748	37047812	131	54885											
GPR112	139378	broad.mit.edu	37	chrX	135428693	135428693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatgtagcacattggacttCagagacatctgagggaattt	12	12	10	7	0	2	2	1	1	1	1	2	5	2	4	0	2	1	2	0	2	3	5			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:135428693C>T	ENST00000394143.1	+	6	3119	c.2828C>T	c.(2827-2829)tCa>tTa	p.S943L	GPR112_ENST00000287534.4_Missense_Mutation_p.S880L|GPR112_ENST00000370652.1_Missense_Mutation_p.S943L|GPR112_ENST00000412101.1_Missense_Mutation_p.S738L|GPR112_ENST00000394141.1_Missense_Mutation_p.S738L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	943					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATTGGACTTCAGAGACATCT	0.423													36	168					0	0	0	0	T	135428693	C	T	135428693	3	4	306	1	0	0	0	0	1	0	0	0	6678	838	29	2	2838	2	GPR112	23	135428693	Missense_Mutation	SNP	C	TCGA-CV-7411-01A-11D-2078-08	17205945	135428693	19841867	132	54886											
L1CAM	3897	broad.mit.edu	37	chrX	153135917	153135917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggctgctggagttggtgggGaagagcaggcgcggcttcct	5	9	19	8	2	0	1	0	0	0	1	1	3	1	3	1	7	2	5	1	7	1	2			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:153135917G>A	ENST00000370060.1	-	8	921	c.732C>T	c.(730-732)ttC>ttT	p.F244F	L1CAM_ENST00000361981.3_Silent_p.F239F|L1CAM_ENST00000370055.1_Silent_p.F239F|L1CAM_ENST00000361699.4_Silent_p.F244F|L1CAM_ENST00000370057.3_Silent_p.F244F|L1CAM_ENST00000543994.1_Silent_p.F246F|L1CAM_ENST00000538883.1_Silent_p.F246F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	244	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTTGGTGGGGAAGAGCAGGC	0.637													9	36					0	0	0	0	A	153135917	G	A	153135917	2	1	306	1	0	0	0	0	0	0	0	1	8641	1165	41	2		2	L1CAM	23	153135917	Silent	SNP	G	TCGA-CV-7411-01A-11D-2078-08	17707224	153135917	2134643	133	54887											
UBE4B	10277	broad.mit.edu	37	chr1	10239993	10239993	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcaggcgtggatgagagaGaaacagaacagcgatcacta	16	6	12	7	2	2	3	2	1	0	3	2	7	2	4	0	2	3	0	0	2	3	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:10239993G>A	ENST00000377157.3	+	27	4226	c.3165G>A	c.(3163-3165)gaG>gaA	p.E1055E	UBE4B_ENST00000253251.8_Silent_p.E1167E|UBE4B_ENST00000343090.6_Silent_p.E1296E	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1296					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GGATGAGAGAGAAACAGAACA	0.552													8	40					0	0	0	0	A	10239993	G	A	10239993	2	1	307	1	0	0	0	0	0	0	0	1	16979	933	33	2		2	UBE4B	1	10239993	Silent	SNP	G	TCGA-CV-7413-01A-11D-2078-08		10239993	239010628	1	54888											
PTCHD2	57540	broad.mit.edu	37	chr1	11561896	11561896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcatcttcctggcgcgcGgcgacgcggagcgcaacatt	7	7	13	14	7	2	0	1	0	1	0	3	2	3	1	1	3	3	2	1	3	1	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:11561896G>A	ENST00000294484.6	+	2	985	c.847G>A	c.(847-849)Ggc>Agc	p.G283S	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G283S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	283					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTGGCGCGCGGCGACGCGGA	0.647													5	20					0	0	0	0	A	11561896	G	A	11561896	3	1	307	1	0	0	0	0	1	0	0	0	12812	1116	39	1	849	1	PTCHD2	1	11561896	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	1321903	11561896	237688725	2	54889											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18023742	18023742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcccaccgcaaggagatttGctctgtggccatcatctccg	7	9	10	15	3	3	1	1	0	2	1	4	2	3	1	4	2	1	2	4	2	1	1			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:18023742G>T	ENST00000361221.3	+	29	3866	c.3707G>T	c.(3706-3708)tGc>tTc	p.C1236F	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.C1009F|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.C1197F|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.C1197F|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.C939F	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1236					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGGAGATTTGCTCTGTGGCC	0.687													13	31					7.03913e-09	7.85418e-09	1	0	T	18023742	G	T	18023742	3	4	307	1	0	0	0	0	1	0	0	0	897	1319	46	4	3817	4	ARHGEF10L	1	18023742	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	6461846	18023742	231226879	3	54890											
KPNA6	23633	broad.mit.edu	37	chr1	32628883	32628883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccctgagagccgtgggtaAcatcgtcactggggatgaca	9	8	14	10	2	1	2	1	2	0	1	2	4	1	3	2	3	3	1	2	3	1	1			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:32628883A>G	ENST00000373625.3	+	10	1052	c.959A>G	c.(958-960)aAc>aGc	p.N320S	KPNA6_ENST00000545542.1_Missense_Mutation_p.N325S|KPNA6_ENST00000537234.1_Missense_Mutation_p.N317S	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	320	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCCGTGGGTAACATCGTCACT	0.542													6	18					0	0	0	0	G	32628883	A	G	32628883	3	3	307	1	0	0	0	0	1	0	0	0	8486	43	2	5	997	5	KPNA6	1	32628883	Missense_Mutation	SNP	A	TCGA-CV-7413-01A-11D-2078-08	14605141	32628883	216621738	4	54891											
MAEL	84944	broad.mit.edu	37	chr1	166985521	166985521	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgtttgcaagaagattgCgtaagttggggaaaggagtt	12	11	15	3	1	0	2	0	0	0	2	0	4	0	4	0	3	3	6	0	3	4	5			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:166985521C>T	ENST00000367872.4	+	9	1152	c.908_splice	c.e9+1	p.A303_splice	MAEL_ENST00000367870.2_Splice_Site_p.A272_splice|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	303					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	p.A303V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AAGAAGATTGCGTAAGTTGGG	0.368													11	52					0	0	0	0	T	166985521	C	T	166985521	5	4	307	1	0	0	0	0	0	0	1	0	9219	782	27	1	942	1	MAEL	1	166985521	Splice_Site	SNP	C	TCGA-CV-7413-01A-11D-2078-08	134356638	166985521	82265100	5	54892											
DUSP27	92235	broad.mit.edu	37	chr1	167095880	167095880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagcaagagagaggaggcGgcagacaggagctcagaagc	16	1	17	7	1	1	5	1	0	0	5	1	8	1	7	0	4	3	3	0	4	3	0			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:167095880G>A	ENST00000361200.2	+	6	1678	c.1512G>A	c.(1510-1512)gcG>gcA	p.A504A	DUSP27_ENST00000443333.1_Silent_p.A504A|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.A504A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	504					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGAGGAGGCGGCAGACAGGA	0.602													11	29					0	0	0	0	A	167095880	G	A	167095880	2	1	307	1	0	0	0	0	0	0	0	1	4860	1103	39	1		1	DUSP27	1	167095880	Silent	SNP	G	TCGA-CV-7413-01A-11D-2078-08	110359	167095880	82154741	6	54893											
RASAL2	9462	broad.mit.edu	37	chr1	178411963	178411963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcagacaatattttctggGgcgaacattttgaattcttc	12	14	8	7	1	2	2	0	1	2	1	3	3	2	2	0	2	2	1	0	2	5	7			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:178411963G>A	ENST00000448150.3	+	8	1845	c.1027G>A	c.(1027-1029)Ggc>Agc	p.G343S	RASAL2_ENST00000462775.1_Missense_Mutation_p.G213S|RASAL2_ENST00000367649.3_Missense_Mutation_p.G361S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	213	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TATTTTCTGGGGCGAACATTT	0.388													16	84					0	0	0	0	A	178411963	G	A	178411963	3	1	307	1	0	0	0	0	1	0	0	0	13146	1232	43	4	1128	4	RASAL2	1	178411963	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	11316083	178411963	70838658	7	54894											
CYB5R1	51706	broad.mit.edu	37	chr1	202935050	202935050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacatagccttgatcctcatCactggtgacaggagtgtatg	10	11	10	10	0	2	2	2	2	0	0	3	3	3	3	2	2	1	1	2	2	2	3			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:202935050C>T	ENST00000367249.4	-	4	384	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	104	FAD-binding FR-type.				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGATCCTCATCACTGGTGACA	0.507													6	26					0	0	0	0	T	202935050	C	T	202935050	3	4	307	1	0	0	0	0	1	0	0	0	4158	826	29	2	631	2	CYB5R1	1	202935050	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	24523087	202935050	46315571	8	54895											
GALNT2	2590	broad.mit.edu	37	chr1	230381875	230381875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaactttcagtatgtggggGcatctgctgacttgaagggc	9	11	13	8	0	2	2	1	2	1	0	2	2	2	2	0	3	2	3	0	3	3	3			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:230381875G>A	ENST00000366672.4	+	8	868	c.796G>A	c.(796-798)Gca>Aca	p.A266T	GALNT2_ENST00000541865.1_Missense_Mutation_p.A176T|GALNT2_ENST00000543760.1_Missense_Mutation_p.A228T	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	266					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A266P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTATGTGGGGGCATCTGCTGA	0.493													9	45					0	0	0	0	A	230381875	G	A	230381875	3	1	307	1	0	0	0	0	1	0	0	0	6262	1203	42	4	826	4	GALNT2	1	230381875	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	27446825	230381875	18868746	9	54896											
NT5C1B	93034	broad.mit.edu	37	chr2	18757571	18757571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccccatcaaaggctacaCggagctgagtgtcacagtaa	13	7	9	12	1	2	1	2	1	0	0	3	2	3	2	2	2	2	3	2	2	3	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr2:18757571C>T	ENST00000304081.4	-	8	1308	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	NT5C1B_ENST00000600945.1_Missense_Mutation_p.R463H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R463H|NT5C1B_ENST00000359846.2_Missense_Mutation_p.R463H	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AAAGGCTACACGGAGCTGAGT	0.443													11	31					0	0	0	0	T	18757571	C	T	18757571	3	4	307	1	0	0	0	0	1	0	0	0	10757	536	19	1	452	1	NT5C1B	2	18757571	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08		18757571	224441802	10	54897											
VWA3B	200403	broad.mit.edu	37	chr2	98914449	98914449	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaggtcgtgtccacctcCttcatcacgcctgtgggggg	6	9	12	14	2	2	0	2	0	0	0	5	0	4	0	5	4	0	0	5	4	1	1			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr2:98914449C>T	ENST00000477737.1	+	24	3441	c.3237C>T	c.(3235-3237)tcC>tcT	p.S1079S	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1079										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTCCACCTCCTTCATCACGC	0.577													9	59					0	0	0	0	T	98914449	C	T	98914449	2	4	307	1	0	0	0	0	0	0	0	1	17337	668	24	4		4	VWA3B	2	98914449	Silent	SNP	C	TCGA-CV-7413-01A-11D-2078-08	80156878	98914449	144284924	11	54898											
EPB41L5	57669	broad.mit.edu	37	chr2	120857851	120857851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtttcgacccaaagtaatGgctcccaacaggtaagacaa	15	8	8	10	1	0	1	0	0	0	1	2	2	1	1	2	2	1	4	2	2	5	3			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr2:120857851G>T	ENST00000263713.5	+	15	1424	c.1210G>T	c.(1210-1212)Ggc>Tgc	p.G404C	EPB41L5_ENST00000331393.4_Missense_Mutation_p.G404C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.G404C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.G404C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.G404C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	404						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CCAAAGTAATGGCTCCCAACA	0.328													3	39					0.115264	0.118379	1	0	T	120857851	G	T	120857851	3	4	307	1	0	0	0	0	1	0	0	0	5195	1348	47	4	1264	4	EPB41L5	2	120857851	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	21943402	120857851	122341522	12	54899											
LRP1B	53353	broad.mit.edu	37	chr2	141806672	141806672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgaaagtctaaagcacgagGgtttaccagattttctatgg	12	12	11	6	1	2	2	0	1	2	1	2	3	2	2	1	2	2	2	1	2	5	6			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr2:141806672G>T	ENST00000389484.3	-	11	2643	c.1672C>A	c.(1672-1674)Cct>Act	p.P558T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	558					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAGCACGAGGGTTTACCAGA	0.438										TSP Lung(27;0.18)			31	116					1.61788e-16	1.84403e-16	1	0	T	141806672	G	T	141806672	3	4	307	1	0	0	0	0	1	0	0	0	9019	1232	43	4	12451	4	LRP1B	2	141806672	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	20948821	141806672	101392701	13	54900											
FIGN	55137	broad.mit.edu	37	chr2	164467771	164467771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagaatgcaaatatgatcCgttgtatcctggggcatatt	12	13	10	6	1	0	2	0	1	0	1	2	2	2	2	2	2	1	5	2	2	6	6			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr2:164467771C>T	ENST00000333129.3	-	3	885	c.571G>A	c.(571-573)Gga>Aga	p.G191R	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	191						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AAATATGATCCGTTGTATCCT	0.507													6	39					0	0	0	0	T	164467771	C	T	164467771	3	4	307	1	0	0	0	0	1	0	0	0	5936	661	23	1	1712	1	FIGN	2	164467771	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	22661099	164467771	78731602	14	54901											
CASP8	841	broad.mit.edu	37	chr2	202131394	202131394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagcaatctgtccttccTgaaggagctgctcttccgaa	10	10	10	11	1	2	1	0	1	2	0	5	4	5	3	3	2	3	3	3	2	4	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr2:202131394T>C	ENST00000358485.4	+	2	558	c.362T>C	c.(361-363)cTg>cCg	p.L121P	CASP8_ENST00000264275.5_Missense_Mutation_p.L62P|CASP8_ENST00000432109.2_Missense_Mutation_p.L62P|CASP8_ENST00000264274.9_Missense_Mutation_p.L62P|CASP8_ENST00000323492.7_Missense_Mutation_p.L62P|CASP8_ENST00000392258.3_Missense_Mutation_p.L62P|CASP8_ENST00000392259.2_Missense_Mutation_p.L62P|CASP8_ENST00000392266.3_Missense_Mutation_p.L62P	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	62	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.L62P(1)|p.L121P(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGTCCTTCCTGAAGGAGCTG	0.453										HNSCC(4;0.00038)			6	23					0	0	0	0	C	202131394	T	C	202131394	3	2	307	1	0	0	0	0	1	0	0	0	2702	1580	55	5	368	5	CASP8	2	202131394	Missense_Mutation	SNP	T	TCGA-CV-7413-01A-11D-2078-08	37663623	202131394	41067979	15	54902											
ERC2	26059	broad.mit.edu	37	chr3	56044571	56044571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctcttctagtctttccCgatcatctctttctcgctgt	4	19	4	14	2	6	0	1	0	5	0	10	1	7	0	1	0	0	1	1	0	2	5			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr3:56044571C>T	ENST00000288221.6	-	9	2081	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	609						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TAGTCTTTCCCGATCATCTCT	0.413													13	49					0	0	0	0	T	56044571	C	T	56044571	3	4	307	1	0	0	0	0	1	0	0	0	5249	652	23	1	1073	1	ERC2	3	56044571	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08		56044571	141977859	16	54903											
TIPARP	25976	broad.mit.edu	37	chr3	156396202	156396202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccacactcaccaagagaacgGaattgaaatttgcatggact	15	8	8	10	1	1	2	1	1	0	1	1	5	1	4	2	2	2	1	2	2	4	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr3:156396202G>A	ENST00000461166.1	+	2	1304	c.716G>A	c.(715-717)gGa>gAa	p.G239E	TIPARP_ENST00000295924.7_Missense_Mutation_p.G239E|TIPARP_ENST00000542783.1_Missense_Mutation_p.G239E|TIPARP_ENST00000486483.1_Missense_Mutation_p.G239E	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	239							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAAGAGAACGGAATTGAAATT	0.458													22	127					0	0	0	0	A	156396202	G	A	156396202	3	1	307	1	0	0	0	0	1	0	0	0	16018	1174	41	2	718	2	TIPARP	3	156396202	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	100351631	156396202	41626228	17	54904											
FAT4	79633	broad.mit.edu	37	chr4	126371855	126371855	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactctggaacaaatgctgtGattgcgtatactgtacagtc	11	12	10	8	1	1	1	0	1	1	0	2	3	1	2	0	1	5	3	0	1	5	4			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr4:126371855G>C	ENST00000394329.3	+	9	9697	c.9684G>C	c.(9682-9684)gtG>gtC	p.V3228V	FAT4_ENST00000335110.5_Silent_p.V1526V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3228	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAATGCTGTGATTGCGTATA	0.428													9	50					0	0	0	0	C	126371855	G	C	126371855	2	2	307	1	0	0	0	0	0	0	0	1	5737	1277	45	2		2	FAT4	4	126371855	Silent	SNP	G	TCGA-CV-7413-01A-11D-2078-08		126371855	64782421	18	54905											
LRBA	987	broad.mit.edu	37	chr4	151842388	151842388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaagttaaaaaaggcatcagGaccatacttctgaggcatat	17	9	8	7	0	2	1	1	1	1	0	2	2	2	2	1	3	1	3	1	3	6	4			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr4:151842388G>A	ENST00000535741.1	-	5	1080	c.607C>T	c.(607-609)Cct>Tct	p.P203S	LRBA_ENST00000507224.1_Missense_Mutation_p.P203S|LRBA_ENST00000510413.1_Missense_Mutation_p.P203S|LRBA_ENST00000357115.3_Missense_Mutation_p.P203S			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	203						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAGGCATCAGGACCATACTTC	0.383													25	52					0	0	0	0	A	151842388	G	A	151842388	3	1	307	1	0	0	0	0	1	0	0	0	8995	1174	41	2	8200	2	LRBA	4	151842388	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	25470533	151842388	39311888	19	54906											
FAT1	2195	broad.mit.edu	37	chr4	187549812	187549812	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatccacagcactgatttGcaaaatttctgtttctggcg	9	14	8	10	1	2	2	0	2	2	0	3	2	3	2	1	1	2	3	1	1	2	3			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr4:187549812G>A	ENST00000441802.2	-	8	4638	c.4429C>T	c.(4429-4431)Caa>Taa	p.Q1477*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1477	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCACTGATTTGCAAAATTTCT	0.393										HNSCC(5;0.00058)			9	27					0	0	0	0	A	187549812	G	A	187549812	4	1	307	1	0	0	0	0	0	1	0	0	5734	1328	46	4	9417	4	FAT1	4	187549812	Nonsense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	35707424	187549812	3604464	20	54907											
TRIO	7204	broad.mit.edu	37	chr5	14488246	14488246	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggctccttcaccttcccGggggacagcgactccctcca	5	7	9	20	3	1	0	1	0	0	0	5	2	5	1	6	3	1	1	6	3	0	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:14488246G>C	ENST00000344204.4	+	48	7533	c.7509G>C	c.(7507-7509)ccG>ccC	p.P2503P	TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2503					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCACCTTCCCGGGGGACAGCG	0.721													4	15					0	0	0	0	C	14488246	G	C	14488246	2	2	307	1	0	0	0	0	0	0	0	1	16647	1103	39	3		3	TRIO	5	14488246	Silent	SNP	G	TCGA-CV-7413-01A-11D-2078-08		14488246	166427014	21	54908											
GPBP1	65056	broad.mit.edu	37	chr5	56546884	56546884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctcaagagaatggcaatgCctcagtgatttcccagcaga	12	9	9	11	0	2	3	2	1	0	2	4	4	4	3	3	1	2	2	3	1	3	1			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:56546884C>T	ENST00000424459.3	+	11	2410	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	GPBP1_ENST00000454432.2_Missense_Mutation_p.A379V|GPBP1_ENST00000538707.1_Missense_Mutation_p.A366V|GPBP1_ENST00000264779.6_Missense_Mutation_p.A366V|GPBP1_ENST00000514387.2_Missense_Mutation_p.A188V|GPBP1_ENST00000506184.2_Missense_Mutation_p.A359V|GPBP1_ENST00000511209.1_Missense_Mutation_p.A351V	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AATGGCAATGCCTCAGTGATT	0.393													19	37					0	0	0	0	T	56546884	C	T	56546884	3	4	307	1	0	0	0	0	1	0	0	0	6644	739	26	4	1131	4	GPBP1	5	56546884	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	42058638	56546884	124368376	22	54909											
RASA1	5921	broad.mit.edu	37	chr5	86681171	86681171	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattagtggctaaatctgtgCagaacttagcaaatcttgtg	12	14	9	6	0	2	1	0	0	2	1	2	1	2	1	0	1	3	3	0	1	7	5			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:86681171C>T	ENST00000456692.2	+	22	2396	c.2281C>T	c.(2281-2283)Cag>Tag	p.Q761*	RASA1_ENST00000506290.1_Nonsense_Mutation_p.Q772*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.Q938*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.Q771*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	938	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TAAATCTGTGCAGAACTTAGC	0.353													4	24					0	0	0	0	T	86681171	C	T	86681171	4	4	307	1	0	0	0	0	0	1	0	0	13142	711	25	4	2910	4	RASA1	5	86681171	Nonsense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	30134287	86681171	94234089	23	54910											
GPR98	84059	broad.mit.edu	37	chr5	89970029	89970029	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacgactgatatcaccatCaaagctagtgatcatccata	16	9	6	10	1	3	2	3	2	0	0	4	4	4	2	2	0	2	1	2	0	5	3			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:89970029C>A	ENST00000405460.2	+	23	5184	c.5088C>A	c.(5086-5088)atC>atA	p.I1696I	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1696					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATATCACCATCAAAGCTAGTG	0.423													6	12					0.0293803	0.0308348	1	0	A	89970029	C	A	89970029	2	1	307	1	0	0	0	0	0	0	0	1	6771	816	29	2		2	GPR98	5	89970029	Silent	SNP	C	TCGA-CV-7413-01A-11D-2078-08	3288858	89970029	90945231	24	54911											
AFF4	27125	broad.mit.edu	37	chr5	132269973	132269973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttccatggactcctgtcCgtccatgggccgcacatagg	6	10	12	13	2	0	0	0	0	0	0	4	1	4	1	5	4	0	2	5	4	1	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:132269973C>T	ENST00000265343.5	-	3	1163	c.784G>A	c.(784-786)Gga>Aga	p.G262R	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.G262R	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	262	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACTCCTGTCCGTCCATGGGC	0.512													15	61					0	0	0	0	T	132269973	C	T	132269973	3	4	307	1	0	0	0	0	1	0	0	0	359	661	23	1	2783	1	AFF4	5	132269973	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	42299944	132269973	48645287	25	54912											
PCDHB2	56133	broad.mit.edu	37	chr5	140475797	140475797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccctgcacatcggcagcGtcagcgccacagacagagac	10	3	11	17	4	1	2	1	0	0	2	2	3	1	2	3	1	3	2	3	1	0	0			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:140475797G>A	ENST00000194155.4	+	1	1571	c.1423G>A	c.(1423-1425)Gtc>Atc	p.V475I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		475	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCGGCAGCGTCAGCGCCAC	0.667													34	117					0	0	0	0	A	140475797	G	A	140475797	3	1	307	1	0	0	0	0	1	0	0	0	11613	1145	40	1	1425	1	PCDHB2	5	140475797	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	8205824	140475797	40439463	26	54913											
PCDHB13	56123	broad.mit.edu	37	chr5	140595724	140595724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctgcctctcccggaggcgGccccgacccaggcccaggcc	5	3	12	21	3	1	0	0	0	1	0	2	2	1	1	8	5	1	0	8	5	0	0			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:140595724G>C	ENST00000341948.4	+	1	2216	c.2029G>C	c.(2029-2031)Gcc>Ccc	p.A677P		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		677					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGAGGCGGCCCCGACCCA	0.682													36	114					0	0	0	0	C	140595724	G	C	140595724	3	2	307	1	0	0	0	0	1	0	0	0	11609	1203	42	4	2031	4	PCDHB13	5	140595724	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	119927	140595724	40319536	27	54914											
HIST1H4F	8361	broad.mit.edu	37	chr6	26240713	26240713	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcgccaagcgccatcgCaaagtgctgcgtgacaacat	11	5	13	12	4	0	1	0	1	0	0	1	2	0	2	2	2	4	2	2	2	3	0			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr6:26240713C>T	ENST00000377745.2	+	1	153	c.60C>T	c.(58-60)cgC>cgT	p.R20R		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	20					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGCGCCATCGCAAAGTGCTGC	0.537													5	18					0	0	0	0	T	26240713	C	T	26240713	2	4	307	1	0	0	0	0	0	0	0	1	7220	697	25	4		4	HIST1H4F	6	26240713	Silent	SNP	C	TCGA-CV-7413-01A-11D-2078-08		26240713	144874354	28	54915											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834874	27834874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctttttcgcccctgcaGccttcttggccttcttaggc	2	15	8	16	1	2	0	0	0	2	0	3	0	2	0	5	2	3	1	5	2	1	6			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr6:27834874G>T	ENST00000331442.3	-	1	485	c.434C>A	c.(433-435)gCt>gAt	p.A145D		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	145					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CGCCCCTGCAGCCTTCTTGGC	0.617													41	192					9.84934e-19	1.14729e-18	1	0	T	27834874	G	T	27834874	3	4	307	1	0	0	0	0	1	0	0	0	7173	971	34	4	250	4	HIST1H1B	6	27834874	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	1594161	27834874	143280193	29	54916											
TCTE1	202500	broad.mit.edu	37	chr6	44254022	44254022	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaggtcgaggatcacCgcagggtctgtggtgcctgg	6	7	18	10	2	2	0	1	0	1	0	3	2	2	1	2	6	2	3	2	6	0	0			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr6:44254022C>T	ENST00000371505.4	-	3	647	c.525G>A	c.(523-525)gcG>gcA	p.A175A	TCTE1_ENST00000371503.3_Silent_p.A22A|TCTE1_ENST00000371504.1_Silent_p.A22A|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	175										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGAGGATCACCGCAGGGTCTG	0.652													20	41					0	0	0	0	T	44254022	C	T	44254022	2	4	307	1	0	0	0	0	0	0	0	1	15811	639	23	1		1	TCTE1	6	44254022	Silent	SNP	C	TCGA-CV-7413-01A-11D-2078-08	16419148	44254022	126861045	30	54917											
LFNG	3955	broad.mit.edu	37	chr7	2552941	2552941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccagctctcaggtcctaCggaggtggcctctctcagca	8	8	10	15	1	3	0	2	0	2	0	6	1	4	1	3	4	3	2	3	4	1	1			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr7:2552941C>T	ENST00000402506.1	+	2	324	c.198C>T	c.(196-198)taC>taT	p.Y66Y		NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	0					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		TCAGGTCCTACGGAGGTGGCC	0.532													8	27					0	0	0	0	T	2552941	C	T	2552941	2	4	307	1	0	0	0	0	0	0	0	1	8790	547	19	1		1	LFNG	7	2552941	Silent	SNP	C	TCGA-CV-7413-01A-11D-2078-08		2552941	156585722	31	54918											
ZAN	7455	broad.mit.edu	37	chr7	100388502	100388504	+	RNA	DEL	AAA	AAA	-																															gcaacagagcaagactgtctAaaaaaaaaaaaaaaaaaaag																								rs5886138		TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr7:100388502_100388504delAAA	ENST00000542585.1	+	0	7502				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			aagactgtctaaaaaaaaaaaaa	0.527													2	4	---	---	---	---					-	100388504	AAA	-	100388502	6	5	307	0	1	1	0	1	0	0	0	0	17609	377	13	0		0	ZAN	7	100388502	RNA	DEL	AAA	TCGA-CV-7413-01A-11D-2078-08	97835561	100388502	58750161	32	54919											
GRM8	2918	broad.mit.edu	37	chr7	126746580	126746580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgagatctgggtgaaggcctCcacaccgctctcaccatagt	9	8	10	14	2	2	2	1	1	2	1	4	3	3	2	4	2	0	1	4	2	2	1			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr7:126746580C>T	ENST00000339582.2	-	3	1505	c.697G>A	c.(697-699)Gag>Aag	p.E233K	GRM8_ENST00000444921.2_Missense_Mutation_p.E233K|GRM8_ENST00000405249.1_Missense_Mutation_p.E233K|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.E233K			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	233					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTGAAGGCCTCCACACCGCTC	0.498										HNSCC(24;0.065)			7	20					0	0	0	0	T	126746580	C	T	126746580	3	4	307	1	0	0	0	0	1	0	0	0	6853	864	30	2	2115	2	GRM8	7	126746580	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	26358078	126746580	32392083	33	54920											
TNKS	8658	broad.mit.edu	37	chr8	9605599	9605599	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgcaacagataagtgggcGtttactcccctccatgaagc	12	9	9	11	1	0	2	0	1	0	1	2	2	2	2	3	1	4	2	3	1	5	3	rs35491087	byFrequency	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:9605599G>A	ENST00000310430.6	+	18	2735	c.2709G>A	c.(2707-2709)gcG>gcA	p.A903A	TNKS_ENST00000518281.1_Silent_p.A666A	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	903					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATAAGTGGGCGTTTACTCCCC	0.473													8	31					0	0	0	0	A	9605599	G	A	9605599	2	1	307	1	0	0	0	0	0	0	0	1	16413	1132	40	1		1	TNKS	8	9605599	Silent	SNP	G	TCGA-CV-7413-01A-11D-2078-08		9605599	136758423	34	54921											
HR	55806	broad.mit.edu	37	chr8	21976769	21976769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacacagaggttcttggtcCccaggtgtccccggtgcggg	5	8	14	14	2	1	1	0	0	1	1	3	1	3	1	5	5	1	1	5	5	0	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:21976769C>T	ENST00000381418.4	-	15	4485	c.3005G>A	c.(3004-3006)gGg>gAg	p.G1002E	HR_ENST00000312841.8_Missense_Mutation_p.G1002E	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1002	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTTCTTGGTCCCCAGGTGTCC	0.597													6	34					0	0	0	0	T	21976769	C	T	21976769	3	4	307	1	0	0	0	0	1	0	0	0	7397	623	22	4	584	4	HR	8	21976769	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	12371170	21976769	124387253	35	54922											
ADAM28	10863	broad.mit.edu	37	chr8	24209561	24209561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcaatgagcccccagcctCttttgtgagttagcaacttc	9	11	9	12	0	1	2	0	2	1	0	2	2	1	2	3	1	4	3	3	1	3	4			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:24209561C>G	ENST00000265769.4	+	21	2350	c.2240C>G	c.(2239-2241)tCt>tGt	p.S747C	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_3'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	747					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCCCCAGCCTCTTTTGTGAGT	0.408													9	58					0	0	0	0	G	24209561	C	G	24209561	3	3	307	1	0	0	0	0	1	0	0	0	246	913	32	2	2378	2	ADAM28	8	24209561	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	2232792	24209561	122154461	36	54923											
RBM12B	389677	broad.mit.edu	37	chr8	94746535	94746535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgaaatcctcctctggggGccgcctgaagtcatcctcgg	6	9	11	15	2	2	2	1	2	1	0	6	2	5	2	6	3	0	0	6	3	2	0			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:94746535G>A	ENST00000399300.2	-	3	2317	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	702							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCTCTGGGGGCCGCCTGAAG	0.642													34	124					0	0	0	0	A	94746535	G	A	94746535	3	1	307	1	0	0	0	0	1	0	0	0	13196	1203	42	4	905	4	RBM12B	8	94746535	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	70536974	94746535	51617487	37	54924											
KCNQ3	3786	broad.mit.edu	37	chr8	133141591	133141591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcatggagccgctgggcGtgaaggggtccgtgtctgtg	5	8	20	8	3	1	1	0	1	1	0	2	3	2	2	2	5	1	2	2	5	1	0			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:133141591G>A	ENST00000388996.4	-	15	2957	c.2537C>T	c.(2536-2538)aCg>aTg	p.T846M	KCNQ3_ENST00000519445.1_Missense_Mutation_p.T834M|KCNQ3_ENST00000521134.1_Missense_Mutation_p.T726M	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	846					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCCGCTGGGCGTGAAGGGGTC	0.572													8	34					0	0	0	0	A	133141591	G	A	133141591	3	1	307	1	0	0	0	0	1	0	0	0	8137	1145	40	1	85	1	KCNQ3	8	133141591	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	38395056	133141591	13222431	38	54925											
OPLAH	26873	broad.mit.edu	37	chr8	145107418	145107418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcgctgcgacgtgagcacGttgccgcccaccaccgccgc	6	4	12	19	8	0	1	0	1	0	0	0	2	0	1	5	0	3	3	5	0	0	1			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:145107418G>A	ENST00000426825.1	-	23	3318	c.3237C>T	c.(3235-3237)aaC>aaT	p.N1079N	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1079							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	ACGTGAGCACGTTGCCGCCCA	0.771													3	7					0	0	0	0	A	145107418	G	A	145107418	2	1	307	1	0	0	0	0	0	0	0	1	10947	1136	40	1		1	OPLAH	8	145107418	Silent	SNP	G	TCGA-CV-7413-01A-11D-2078-08	11965827	145107418	1256604	39	54926											
DOCK8	81704	broad.mit.edu	37	chr9	382632	382632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagtaacccagacctcGcggggacacactccgcagca	11	3	11	16	3	0	1	0	0	0	1	2	2	1	2	3	2	3	5	3	2	1	1			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:382632G>A	ENST00000432829.2	+	22	2837	c.2521G>A	c.(2521-2523)Gcg>Acg	p.A841T	DOCK8_ENST00000382331.1_Missense_Mutation_p.A211T|DOCK8_ENST00000453981.1_Missense_Mutation_p.A909T|DOCK8_ENST00000469391.1_Missense_Mutation_p.A841T|DOCK8_ENST00000382329.1_Missense_Mutation_p.A376T	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	909					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCCAGACCTCGCGGGGACACA	0.542													7	30					0	0	0	0	A	382632	G	A	382632	3	1	307	1	0	0	0	0	1	0	0	0	4729	1087	38	1	2811	1	DOCK8	9	382632	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08		382632	140830799	40	54927											
CDKN2A	1029	broad.mit.edu	37	chr9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtccacgggcagacggccCcaggcatcgcgcacgtccag	8	3	14	16	5	0	1	0	0	0	1	3	1	2	1	4	4	0	3	4	4	0	0	rs121913389		TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	17					0	0	0	0	T	21971028	C	T	21971028	4	4	307	1	0	0	0	0	0	1	0	0	3190	624	22	4	148	4	CDKN2A	9	21971028	Nonsense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	21588396	21971028	119242403	41	54928											
CCDC107	203260	broad.mit.edu	37	chr9	35658653	35658653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcaacgcgagcggacccggGccgggtcgctgcctctgggg	5	5	17	14	6	2	0	1	0	1	0	3	2	2	1	3	5	3	1	3	5	1	0			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:35658653G>A	ENST00000421582.2	+	2	250	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	CCDC107_ENST00000327351.2_Missense_Mutation_p.A63T|CCDC107_ENST00000378409.3_Missense_Mutation_p.A63T|CCDC107_ENST00000426546.2_Missense_Mutation_p.A63T|CCDC107_ENST00000378407.3_Missense_Mutation_p.A63T|CCDC107_ENST00000378406.1_Missense_Mutation_p.A63T			Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	63						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCGGACCCGGGCCGGGTCGCT	0.716													8	13					0	0	0	0	A	35658653	G	A	35658653	3	1	307	1	0	0	0	0	1	0	0	0	2767	1203	42	4	193	4	CCDC107	9	35658653	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	13687625	35658653	105554778	42	54929											
ZNF189	7743	broad.mit.edu	37	chr9	104170879	104170879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggaaatcacaccttattGagcatcaaagaactcacact	15	10	6	10	0	3	2	3	1	0	1	3	3	3	3	1	1	2	2	1	1	4	3			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:104170879G>A	ENST00000374861.3	+	3	1071	c.787G>A	c.(787-789)Gag>Aag	p.E263K	ZNF189_ENST00000259395.4_Missense_Mutation_p.E235K|ZNF189_ENST00000339664.2_Missense_Mutation_p.E277K	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	277					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ACACCTTATTGAGCATCAAAG	0.393													55	106					0	0	0	0	A	104170879	G	A	104170879	3	1	307	1	0	0	0	0	1	0	0	0	17849	1291	45	2	839	2	ZNF189	9	104170879	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	68512226	104170879	37042552	43	54930											
PSMB7	5695	broad.mit.edu	37	chr9	127177670	127177670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agttatcaaaagagaagcctCcaactggtggagcatacacc	15	7	9	10	0	1	1	1	0	0	1	2	3	2	2	3	2	4	2	3	2	6	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:127177670C>T	ENST00000536392.1	-	1	51	c.35G>A	c.(34-36)gGa>gAa	p.G12E	PSMB7_ENST00000259457.3_Missense_Mutation_p.G12E			Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	12					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						AGAGAAGCCTCCAACTGGTGG	0.607											OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	13					0	0	0	0	T	127177670	C	T	127177670	3	4	307	1	0	0	0	0	1	0	0	0	12761	855	30	2	830	2	PSMB7	9	127177670	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	23006791	127177670	14035761	44	54931											
CELF2	10659	broad.mit.edu	37	chr10	11370983	11370983	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacgcttgaaggtgcagctGaagcgttccaaaaacgacag	15	6	11	9	3	0	2	0	2	0	0	1	3	1	2	1	1	5	4	1	1	5	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr10:11370983G>A	ENST00000379261.4	+	13	1586	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	CELF2_ENST00000450189.1_Silent_p.L511L|CELF2_ENST00000399850.3_Silent_p.L480L|CELF2_ENST00000354440.2_Silent_p.L480L|CELF2_ENST00000354897.3_Silent_p.L492L|CELF2_ENST00000542579.1_Silent_p.L511L|CELF2_ENST00000417956.2_Silent_p.L478L|CELF2_ENST00000537122.1_Silent_p.L393L|CELF2_ENST00000427450.1_Silent_p.L480L|CELF2_ENST00000416382.2_Silent_p.L498L|CELF2_ENST00000315874.3_Silent_p.L480L	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	498	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						AGGTGCAGCTGAAGCGTTCCA	0.488													12	59					0	0	0	0	A	11370983	G	A	11370983	2	1	307	1	0	0	0	0	0	0	0	1	3245	1277	45	2		2	CELF2	10	11370983	Silent	SNP	G	TCGA-CV-7413-01A-11D-2078-08		11370983	124163764	45	54932											
SEC61A2	55176	broad.mit.edu	37	chr10	12191922	12191922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatgtatggggaccctgcaGaaatgggtgccggaatctgt	9	9	16	7	1	1	1	0	0	1	1	1	4	1	4	2	5	2	2	2	5	3	1			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr10:12191922G>A	ENST00000379033.3	+	5	505	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	SEC61A2_ENST00000298428.9_Missense_Mutation_p.E142K|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000304267.8_Missense_Mutation_p.E142K|SEC61A2_ENST00000379017.3_Missense_Mutation_p.E142K|SEC61A2_ENST00000379051.1_Missense_Mutation_p.E142K|SEC61A2_ENST00000379020.4_Missense_Mutation_p.E142K	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	142						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGACCCTGCAGAAATGGGTGC	0.428													15	60					0	0	0	0	A	12191922	G	A	12191922	3	1	307	1	0	0	0	0	1	0	0	0	14088	943	33	2	446	2	SEC61A2	10	12191922	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	820939	12191922	123342825	46	54933											
HPS6	79803	broad.mit.edu	37	chr10	103826339	103826339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggaggatgaggaagagctgGagacccgagggaatcttcgt	11	7	17	6	2	1	3	0	1	1	2	2	9	1	7	1	5	1	1	1	5	2	1			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr10:103826339G>A	ENST00000299238.5	+	1	1193	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	370						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGAAGAGCTGGAGACCCGAGG	0.582									Hermansky-Pudlak syndrome				12	47					0	0	0	0	A	103826339	G	A	103826339	3	1	307	1	0	0	0	0	1	0	0	0	7393	1175	41	2	1110	2	HPS6	10	103826339	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	91634417	103826339	31708408	47	54934											
SORCS3	22986	broad.mit.edu	37	chr10	106899230	106899230	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagataaagctgcctaagTactcgttgccaaaggtactg	12	10	9	10	1	1	1	1	0	0	1	2	1	1	1	2	1	5	4	2	1	6	5			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr10:106899230T>C	ENST00000369701.3	+	8	1515	c.1288T>C	c.(1288-1290)Tac>Cac	p.Y430H		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	430						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCTGCCTAAGTACTCGTTGCC	0.512													14	53					0	0	0	0	C	106899230	T	C	106899230	3	2	307	1	0	0	0	0	1	0	0	0	15020	1638	57	5	1318	5	SORCS3	10	106899230	Missense_Mutation	SNP	T	TCGA-CV-7413-01A-11D-2078-08	3072891	106899230	28635517	48	54935											
SIRT3	23410	broad.mit.edu	37	chr11	219014	219014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaactgagctccgcacggCctcggtcaagctggcaaaag	10	5	14	12	3	1	1	1	1	0	0	3	2	2	2	2	4	3	4	2	4	4	0			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr11:219014C>T	ENST00000382743.4	-	6	1099	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	SIRT3_ENST00000524564.1_Missense_Mutation_p.A269T|SIRT3_ENST00000529382.1_Missense_Mutation_p.A191T|SIRT3_ENST00000525319.1_Missense_Mutation_p.A252T|SIRT3_ENST00000532956.1_Missense_Mutation_p.A279T	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	333	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CTCCGCACGGCCTCGGTCAAG	0.612													8	13					0	0	0	0	T	219014	C	T	219014	3	4	307	1	0	0	0	0	1	0	0	0	14427	739	26	4	210	4	SIRT3	11	219014	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08		219014	134787502	49	54936											
HBG2	3048	broad.mit.edu	37	chr11	5274626	5274626	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaacggtcaccagcacatTtcccaggagctgttgagatg	12	8	10	11	1	1	1	1	1	0	1	2	3	2	2	2	2	3	3	2	2	2	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr11:5274626T>A	ENST00000380259.2	-	8	1565	c.325A>T	c.(325-327)Aat>Tat	p.N109Y	HBG2_ENST00000336906.4_Missense_Mutation_p.N109Y|HBG2_ENST00000380252.1_Missense_Mutation_p.N99Y					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGCACATTTCCCAGGAGC	0.522													7	27					0	0	0	0	A	5274626	T	A	5274626	3	1	307	1	0	0	0	0	1	0	0	0	7033	1841	64	5	122	5	HBG2	11	5274626	Missense_Mutation	SNP	T	TCGA-CV-7413-01A-11D-2078-08	5055612	5274626	129731890	50	54937											
OR4C15	81309	broad.mit.edu	37	chr11	55322484	55322484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcactttatgtgtgacttGtacccgttactggagcttgc	8	15	9	9	1	1	1	1	1	0	0	1	2	1	2	1	1	4	3	1	1	4	6			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr11:55322484G>T	ENST00000314644.2	+	1	702	c.702G>T	c.(700-702)ttG>ttT	p.L234F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTGTGACTTGTACCCGTTAC	0.458										HNSCC(20;0.049)			7	27					0.0293803	0.0308348	1	0	T	55322484	G	T	55322484	3	4	307	1	0	0	0	0	1	0	0	0	11119	1368	48	4	704	4	OR4C15	11	55322484	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	50047858	55322484	79684032	51	54938											
RAD51AP1	10635	broad.mit.edu	37	chr12	4665701	4665701	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcatcaaggacaggagctTggaaaattatcactggtaaa	16	10	9	6	0	3	0	3	0	0	0	3	3	3	3	0	4	1	2	0	4	7	4			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:4665701T>C	ENST00000543041.1	+	7	858	c.550T>C	c.(550-552)Tgg>Cgg	p.W184R	RAD51AP1_ENST00000352618.4_Intron|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000228843.9_Intron|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000544931.1_Intron			Q96B01	R51A1_HUMAN	RAD51 associated protein 1	307					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			GACAGGAGCTTGGAAAATTAT	0.378													5	25					0	0	0	0	C	4665701	T	C	4665701	3	2	307	1	0	0	0	0	1	0	0	0	13068	1827	63	5		5	RAD51AP1	12	4665701	Missense_Mutation	SNP	T	TCGA-CV-7413-01A-11D-2078-08		4665701	129186194	52	54939											
ACSM4	341392	broad.mit.edu	37	chr12	7469847	7469847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccagcactctcagagcagCctcggcattgggttcaccct	7	8	10	16	1	2	1	2	0	1	1	4	1	2	1	3	2	3	4	3	2	0	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:7469847C>T	ENST00000399422.4	+	4	783	c.735C>T	c.(733-735)agC>agT	p.S245S		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	245					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CTCAGAGCAGCCTCGGCATTG	0.488													4	4					0	0	0	0	T	7469847	C	T	7469847	2	4	307	1	0	0	0	0	0	0	0	1	186	738	26	4		4	ACSM4	12	7469847	Silent	SNP	C	TCGA-CV-7413-01A-11D-2078-08	2804146	7469847	126382048	53	54940											
CLEC9A	283420	broad.mit.edu	37	chr12	10213747	10213747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgcaggtgtccaccattgCgatgcagcagcaagaaaaac	13	7	11	10	1	0	1	0	0	0	1	1	2	1	1	2	1	6	5	2	1	3	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:10213747C>T	ENST00000355819.1	+	6	807	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	65					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TCCACCATTGCGATGCAGCAG	0.403													5	16					0	0	0	0	T	10213747	C	T	10213747	3	4	307	1	0	0	0	0	1	0	0	0	3552	768	27	1	204	1	CLEC9A	12	10213747	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	2743900	10213747	123638148	54	54941											
APOLD1	81575	broad.mit.edu	37	chr12	12940351	12940353	+	In_Frame_Del	DEL	TCT	TCT	-																															caattctgtctacttcatcgTcttctttggctcacgtggct																										TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:12940351_12940353delTCT	ENST00000356591.4	+	2	597_599	c.512_514delTCT	c.(511-516)gtc>g	p.VF171del	RP11-59H1.3_ENST00000534843.1_Intron|APOLD1_ENST00000326765.6_In_Frame_Del_p.VF202del	NM_030817.2	NP_110444.3	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	202					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		TACTTCATCGTCTTCTTTGGCTC	0.616													45	129	---	---	---	---					-	12940353	TCT	-	12940351	7	5	307	1	0	1	0	1	0	0	0	0	813	1667	58	0	618	0	APOLD1	12	12940351	In_Frame_Del	DEL	TCT	TCGA-CV-7413-01A-11D-2078-08	2726604	12940351	120911544	55	54942											
KRT79	338785	broad.mit.edu	37	chr12	53217762	53217762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgtcccgcaggttgtccCcatgcttcccagcagtcacc	5	10	10	16	1	1	0	1	0	0	0	4	0	4	0	5	2	2	4	5	2	0	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:53217762C>T	ENST00000330553.5	-	6	1089	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	352	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGTTGTCCCCATGCTTCCC	0.612													10	33					0	0	0	0	T	53217762	C	T	53217762	3	4	307	1	0	0	0	0	1	0	0	0	8544	623	22	4	568	4	KRT79	12	53217762	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	40277411	53217762	80634133	56	54943											
OR6C4	341418	broad.mit.edu	37	chr12	55945682	55945682	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattatcaggactattctGaggatcccttctgcccagca	10	12	7	12	0	3	1	1	1	2	0	4	3	4	3	2	2	3	1	2	2	3	5			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:55945682G>T	ENST00000394256.2	+	1	700	c.672G>T	c.(670-672)ctG>ctT	p.L224L	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						GGACTATTCTGAGGATCCCTT	0.468													13	64					4.36969e-10	4.92752e-10	1	0	T	55945682	G	T	55945682	2	4	307	1	0	0	0	0	0	0	0	1	11264	1277	45	2		2	OR6C4	12	55945682	Silent	SNP	G	TCGA-CV-7413-01A-11D-2078-08	2727920	55945682	77906213	57	54944											
LRP1	4035	broad.mit.edu	37	chr12	57579467	57579467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacctgctctactcagagcGcaccattctcaagagtatcc	10	10	6	15	1	3	2	2	0	2	2	5	2	4	2	3	0	4	3	3	0	4	4			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:57579467G>T	ENST00000243077.3	+	41	7083	c.6617G>T	c.(6616-6618)cGc>cTc	p.R2206L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2206					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TACTCAGAGCGCACCATTCTC	0.642													6	22					0.0215528	0.0230767	1	0	T	57579467	G	T	57579467	3	4	307	1	0	0	0	0	1	0	0	0	9015	1087	38	3	6779	3	LRP1	12	57579467	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	1633785	57579467	76272428	58	54945											
OAS2	4939	broad.mit.edu	37	chr12	113444282	113444282	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggctcattgatctgtataaAtcctcggacctcccgggagg	8	10	12	11	2	2	1	1	1	1	0	5	3	4	3	3	4	0	2	3	4	3	3			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:113444282A>G	ENST00000392583.2	+	8	1740	c.1533A>G	c.(1531-1533)aaA>aaG	p.K511K	OAS2_ENST00000342315.4_Silent_p.K511K|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	511	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATCTGTATAAATCCTCGGACC	0.512													26	69					0	0	0	0	G	113444282	A	G	113444282	2	3	307	1	0	0	0	0	0	0	0	1	10871	98	4	5		5	OAS2	12	113444282	Silent	SNP	A	TCGA-CV-7413-01A-11D-2078-08	55864815	113444282	20407613	59	54946											
RIMBP2	23504	broad.mit.edu	37	chr12	130892282	130892282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggtacctcgacatcgaCgttgggcgagctttctctgg	5	11	14	11	4	1	0	0	0	1	0	4	3	1	0	1	4	2	4	1	4	1	3	rs142858015	byFrequency	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:130892282C>T	ENST00000261655.4	-	16	3077	c.2914G>A	c.(2914-2916)Gtc>Atc	p.V972I		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	972	SH3 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCGACATCGACGTTGGGCGAG	0.567													52	186					0	0	0	0	T	130892282	C	T	130892282	3	4	307	1	0	0	0	0	1	0	0	0	13446	536	19	1	260	1	RIMBP2	12	130892282	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	17448000	130892282	2959613	60	54947											
ACSBG1	23205	broad.mit.edu	37	chr15	78526821	78526821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccgtgtgggcagccgtatCcagctccagaattgcgtggc	6	8	13	14	3	0	1	0	0	0	1	2	1	2	1	5	2	3	3	5	2	2	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr15:78526821C>T	ENST00000258873.4	-	1	228	c.23G>A	c.(22-24)gGa>gAa	p.G8E	ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	8					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCAGCCGTATCCAGCTCCAGA	0.597													38	195					0	0	0	0	T	78526821	C	T	78526821	3	4	307	1	0	0	0	0	1	0	0	0	173	855	30	2	2207	2	ACSBG1	15	78526821	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08		78526821	24004571	61	54948											
AGBL1	123624	broad.mit.edu	37	chr15	87531246	87531246	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catccaatttcctgccaaagCatatttggtttgcttaccac	10	14	5	12	0	0	0	0	0	0	0	2	0	2	0	4	1	4	3	4	1	4	5			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr15:87531246C>G	ENST00000441037.2	+	23	3207	c.3112C>G	c.(3112-3114)Cat>Gat	p.H1038D	AGBL1_ENST00000389298.3_Missense_Mutation_p.H769D|RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000421325.2_Missense_Mutation_p.H1038D	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1038					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						cctgccaaagcatatttggtt	0.348													43	104					0	0	0	0	G	87531246	C	G	87531246	3	3	307	1	0	0	0	0	1	0	0	0	375	710	25	4	3198	4	AGBL1	15	87531246	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	9004425	87531246	15000146	62	54949											
ADAMTS17	170691	broad.mit.edu	37	chr15	100657103	100657103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcttggggctcagccggtCgtgtgcctggcactgctggt	2	12	15	12	2	2	0	1	0	1	0	3	0	2	0	2	5	3	3	2	5	0	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr15:100657103C>T	ENST00000268070.4	-	13	1942	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	613	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTCAGCCGGTCGTGTGCCTGG	0.627													22	38					0	0	0	0	T	100657103	C	T	100657103	3	4	307	1	0	0	0	0	1	0	0	0	262	884	31	1	1490	1	ADAMTS17	15	100657103	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	13125857	100657103	1874289	63	54950											
PDXDC1	23042	broad.mit.edu	37	chr16	15128328	15128328	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcagggggtgttgcggcaGatccctgtagtgggctccgt	4	11	17	9	2	0	1	0	0	0	1	2	1	2	1	2	4	2	5	2	4	1	3			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr16:15128328G>A	ENST00000396410.4	+	21	2017	c.1920G>A	c.(1918-1920)caG>caA	p.Q640Q	PDXDC1_ENST00000325823.7_Silent_p.Q625Q|PDXDC1_ENST00000563679.1_Silent_p.Q658Q|PDXDC1_ENST00000447912.2_Silent_p.Q549Q|PDXDC1_ENST00000450288.2_Silent_p.Q612Q|PDXDC1_ENST00000569715.1_Silent_p.Q613Q|PDXDC1_ENST00000535621.2_Intron	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	640					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TGTTGCGGCAGATCCCTGTAG	0.602													30	105					0	0	0	0	A	15128328	G	A	15128328	2	1	307	1	0	0	0	0	0	0	0	1	11767	933	33	2		2	PDXDC1	16	15128328	Silent	SNP	G	TCGA-CV-7413-01A-11D-2078-08		15128328	75226425	64	54951											
TAOK2	9344	broad.mit.edu	37	chr16	29994159	29994159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctgcagtaccgcaagatGaagaagatcctgttccaaga	15	7	9	10	1	0	5	0	1	0	4	2	5	2	5	4	0	3	4	4	0	6	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr16:29994159G>A	ENST00000308893.4	+	11	1979	c.936G>A	c.(934-936)atG>atA	p.M312I	TAOK2_ENST00000279394.3_Missense_Mutation_p.M312I|TAOK2_ENST00000543033.1_Missense_Mutation_p.M312I|TAOK2_ENST00000416441.2_Missense_Mutation_p.M139I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	312					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ACCGCAAGATGAAGAAGATCC	0.607													20	61					0	0	0	0	A	29994159	G	A	29994159	3	1	307	1	0	0	0	0	1	0	0	0	15639	1290	45	2	974	2	TAOK2	16	29994159	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	14865831	29994159	60360594	65	54952											
THAP11	57215	broad.mit.edu	37	chr16	67876720	67876720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgcggcgtcaatgagcGcaaagtagcgcgcagacccg	9	4	15	13	7	1	2	1	1	0	1	1	2	1	2	1	1	3	4	1	1	3	1			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr16:67876720G>C	ENST00000303596.1	+	1	508	c.263G>C	c.(262-264)cGc>cCc	p.R88P	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GTCAATGAGCGCAAAGTAGCG	0.682													7	17					0	0	0	0	C	67876720	G	C	67876720	3	2	307	1	0	0	0	0	1	0	0	0	15937	1087	38	3	265	3	THAP11	16	67876720	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	37882561	67876720	22478033	66	54953											
TP53	7157	broad.mit.edu	37	chr17	7579374	7579374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagacggaaaccgtagctgcCctggtaggttttctgggaag	9	9	14	9	2	1	1	0	0	1	1	1	3	1	3	2	4	3	4	2	4	4	4			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr17:7579374C>A	ENST00000420246.2	-	4	445	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C	TP53_ENST00000413465.2_Missense_Mutation_p.G105C|TP53_ENST00000445888.2_Missense_Mutation_p.G105C|TP53_ENST00000359597.4_Missense_Mutation_p.G105C|TP53_ENST00000455263.2_Missense_Mutation_p.G105C|TP53_ENST00000269305.4_Missense_Mutation_p.G105C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	105	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G105C(5)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105R(2)|p.G105fs*18(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105S(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGTAGCTGCCCTGGTAGGTT	0.627		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	38					3.99451e-17	4.60237e-17	1	0	A	7579374	C	A	7579374	3	1	307	1	0	0	0	0	1	0	0	0	16476	623	22	4	989	4	TP53	17	7579374	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08		7579374	73615836	67	54954											
RAI1	10743	broad.mit.edu	37	chr17	17696924	17696924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccttccccacctcctccaCctactcctcctctgtccagg	4	11	4	22	0	1	0	0	0	1	0	8	0	8	0	10	1	1	0	10	1	1	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr17:17696924C>T	ENST00000353383.1	+	3	1131	c.662C>T	c.(661-663)aCc>aTc	p.T221I	RAI1_ENST00000261641.6_Missense_Mutation_p.T221I	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	221	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCTCCTCCACCTACTCCTCC	0.627													36	68					0	0	0	0	T	17696924	C	T	17696924	3	4	307	1	0	0	0	0	1	0	0	0	13089	507	18	4	664	4	RAI1	17	17696924	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08	10117550	17696924	63498286	68	54955											
GAS2L2	246176	broad.mit.edu	37	chr17	34077219	34077219	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctcctcctccagctgcacGagtgtgggcgccgcaacacc	7	7	10	17	3	1	0	0	0	1	0	4	1	3	0	5	1	3	3	5	1	1	0			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr17:34077219G>A	ENST00000254466.6	-	2	531	c.504C>T	c.(502-504)ctC>ctT	p.L168L	GAS2L2_ENST00000587565.1_Silent_p.L168L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	168					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGCTGCACGAGTGTGGGCG	0.721													31	132					0	0	0	0	A	34077219	G	A	34077219	2	1	307	1	0	0	0	0	0	0	0	1	6296	1045	37	1		1	GAS2L2	17	34077219	Silent	SNP	G	TCGA-CV-7413-01A-11D-2078-08	16380295	34077219	47117991	69	54956											
MAP3K14	9020	broad.mit.edu	37	chr17	43343801	43343801	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accaggcgccttcctccctcCcactgtgccagaggagggga	7	6	12	16	1	0	1	0	0	0	1	3	3	3	3	6	4	1	0	6	4	0	1			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr17:43343801C>T	ENST00000344686.2	-	0	2684				MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTCCTCCCTCCCACTGTGCCA	0.577													11	28					0	0	0	0	T	43343801	C	T	43343801	1	4	307	0	1	0	0	0	0	0	0	0	9317	638	22	4		4	MAP3K14	17	43343801	RNA	SNP	C	TCGA-CV-7413-01A-11D-2078-08	9266582	43343801	37851409	70	54957											
ARHGAP27	201176	broad.mit.edu	37	chr17	43472974	43472974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgctctgcaccgacatgcGgttctgctcgccgtgctcga	5	9	11	16	6	2	0	0	0	2	0	4	2	2	0	2	1	4	5	2	1	0	1			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr17:43472974G>A	ENST00000532038.1	-	16	1987	c.1852C>T	c.(1852-1854)Cgc>Tgc	p.R618C	ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R499C|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R813C|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R840C|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R472C|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R818C|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R499C			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	840					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ACCGACATGCGGTTCTGCTCG	0.667													3	9					0	0	0	0	A	43472974	G	A	43472974	3	1	307	1	0	0	0	0	1	0	0	0	878	1116	39	1	155	1	ARHGAP27	17	43472974	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	129173	43472974	37722236	71	54958											
LAMA3	3909	broad.mit.edu	37	chr18	21444832	21444832	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcttctggaaaagaagccGgatgtacagctcactgtagg	11	10	12	8	1	3	1	1	0	2	1	3	3	3	3	1	3	3	4	1	3	5	4			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr18:21444832G>A	ENST00000313654.9	+	36	4909	c.4668G>A	c.(4666-4668)ccG>ccA	p.P1556P	LAMA3_ENST00000399516.3_Silent_p.P1556P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1556	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAAGAAGCCGGATGTACAGC	0.448													3	51					0	0	0	0	A	21444832	G	A	21444832	2	1	307	1	0	0	0	0	0	0	0	1	8660	1103	39	1		1	LAMA3	18	21444832	Silent	SNP	G	TCGA-CV-7413-01A-11D-2078-08		21444832	56632416	72	54959											
DSEL	92126	broad.mit.edu	37	chr18	65179933	65179933	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggactattgccatgatgaTcaaaccaaaacattttgtaa	15	12	7	7	0	1	2	1	2	0	0	1	3	1	3	2	1	3	1	2	1	5	5			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr18:65179933T>A	ENST00000310045.7	-	2	3416	c.1943A>T	c.(1942-1944)gAt>gTt	p.D648V	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	638						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GCCATGATGATCAAACCAAAA	0.348													12	44					0	0	0	0	A	65179933	T	A	65179933	3	1	307	1	0	0	0	0	1	0	0	0	4811	1435	50	5	1729	5	DSEL	18	65179933	Missense_Mutation	SNP	T	TCGA-CV-7413-01A-11D-2078-08	43735101	65179933	12897315	73	54960											
CARM1	10498	broad.mit.edu	37	chr19	11018790	11018790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgttcagcgagcggaCggaggagtcttctgccgtgc	5	10	16	10	4	4	0	1	0	3	0	4	4	4	3	1	3	4	1	1	3	0	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr19:11018790C>T	ENST00000327064.4	+	3	612	c.422C>T	c.(421-423)aCg>aTg	p.T141M	CARM1_ENST00000344150.4_Missense_Mutation_p.T141M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	141					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						AGCGAGCGGACGGAGGAGTCT	0.637													15	77					0	0	0	0	T	11018790	C	T	11018790	3	4	307	1	0	0	0	0	1	0	0	0	2680	536	19	1	432	1	CARM1	19	11018790	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08		11018790	48110193	74	54961											
KANK2	25959	broad.mit.edu	37	chr19	11280802	11280802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggccgtgctcacaggcGcacatgagggccgtggagcc	6	7	16	12	3	1	1	1	1	0	0	1	2	1	2	3	4	2	2	3	4	0	1			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr19:11280802G>A	ENST00000432929.2	-	11	2718	c.2358C>T	c.(2356-2358)tgC>tgT	p.C786C	KANK2_ENST00000355150.5_Silent_p.C778C|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000589359.1_Silent_p.C786C|KANK2_ENST00000589894.1_Silent_p.C778C|KANK2_ENST00000586659.1_Silent_p.C778C	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	778										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCTCACAGGCGCACATGAGGG	0.637													15	44					0	0	0	0	A	11280802	G	A	11280802	2	1	307	1	0	0	0	0	0	0	0	1	8030	1079	38	1		1	KANK2	19	11280802	Silent	SNP	G	TCGA-CV-7413-01A-11D-2078-08	262012	11280802	47848181	75	54962											
PAF1	54623	broad.mit.edu	37	chr19	39879970	39879970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cataacggttgaactcagtgGagatgtactctgtctttcgc	9	13	10	9	2	3	2	1	1	2	1	4	3	3	2	0	2	3	2	0	2	3	4			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr19:39879970G>A	ENST00000221265.3	-	6	743	c.413C>T	c.(412-414)tCc>tTc	p.S138F	PAF1_ENST00000595564.1_Missense_Mutation_p.S128F|PAF1_ENST00000221266.7_Missense_Mutation_p.S128F	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	138					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GAACTCAGTGGAGATGTACTC	0.517													11	53					0	0	0	0	A	39879970	G	A	39879970	3	1	307	1	0	0	0	0	1	0	0	0	11454	1174	41	2	1218	2	PAF1	19	39879970	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	28599168	39879970	19249013	76	54963											
NLRP7	199713	broad.mit.edu	37	chr19	55450492	55450492	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagacctccttcaggtcggtCacggataagggcttatttgc	9	11	11	10	2	2	1	2	0	0	1	4	2	3	2	2	4	1	1	2	4	3	4			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr19:55450492C>G	ENST00000446217.1	-	6	2181	c.1779G>C	c.(1777-1779)gtG>gtC	p.V593V	NLRP7_ENST00000592784.1_Silent_p.V565V|NLRP7_ENST00000590030.1_Silent_p.V565V|NLRP7_ENST00000588756.1_Silent_p.V565V|NLRP7_ENST00000340844.2_Silent_p.V565V|NLRP7_ENST00000328092.5_Silent_p.V565V|NLRP7_ENST00000448121.2_Silent_p.V565V			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	565							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)		TCAGGTCGGTCACGGATAAGG	0.527													21	39					0	0	0	0	G	55450492	C	G	55450492	2	3	307	1	0	0	0	0	0	0	0	1	10552	813	29	2		2	NLRP7	19	55450492	Silent	SNP	C	TCGA-CV-7413-01A-11D-2078-08	15570522	55450492	3678491	77	54964											
NFATC2	4773	broad.mit.edu	37	chr20	50140118	50140118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggcgaggctggttcgaggtGacattattggcgaggttctg	6	11	17	7	4	1	1	0	1	1	0	2	4	1	1	0	6	0	3	0	6	1	4			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr20:50140118G>A	ENST00000371564.3	-	2	881	c.662C>T	c.(661-663)tCa>tTa	p.S221L	NFATC2_ENST00000414705.1_Missense_Mutation_p.S201L|NFATC2_ENST00000396009.3_Missense_Mutation_p.S221L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	221	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGTTCGAGGTGACATTATTGG	0.652													20	71					0	0	0	0	A	50140118	G	A	50140118	3	1	307	1	0	0	0	0	1	0	0	0	10432	1294	45	2	2199	2	NFATC2	20	50140118	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08		50140118	12885402	78	54965											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	16	7	12	6	1	0	2	0	1	0	1	1	3	0	2	0	3	3	4	0	3	6	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383													13	159					0	0	0	0	T	11058322	C	T	11058322	1	4	307	0	1	0	0	0	0	0	0	0	1296	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-CV-7413-01A-11D-2078-08		11058322	37071573	79	54966											
KRTAP6-3	337968	broad.mit.edu	37	chr21	31965096	31965096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctttggctactactattGaggacaccatgggagactct	10	11	10	10	0	1	2	0	1	1	1	1	4	1	3	1	3	3	2	1	3	3	5			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr21:31965096G>A	ENST00000391624.1	+	1	338	c.311G>A	c.(310-312)tGa>tAa	p.*104*		NM_181605.3	NP_853636.3			keratin associated protein 6-3											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						TACTACTATTGAGGACACCAT	0.512													3	11					0	0	0	0	A	31965096	G	A	31965096	2	1	307	1	0	0	0	0	0	0	0	1	8624	1285	45	2		2	KRTAP6-3	21	31965096	Silent	SNP	G	TCGA-CV-7413-01A-11D-2078-08	20906774	31965096	16164799	80	54967											
CECR1	51816	broad.mit.edu	37	chr22	17669265	17669265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagtaaggcagcttaaCgccatccttggcggggatca	12	7	13	9	2	1	1	1	0	0	1	2	3	2	2	2	4	2	3	2	4	4	3	rs74317375	byFrequency	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr22:17669265C>T	ENST00000399839.1	-	7	1315	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	CECR1_ENST00000330232.4_Missense_Mutation_p.V108I|CECR1_ENST00000262607.3_Missense_Mutation_p.V349I|CECR1_ENST00000399837.2_Missense_Mutation_p.V349I|CECR1_ENST00000449907.2_Missense_Mutation_p.V307I			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	349					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGCAGCTTAACGCCATCCTTG	0.607													3	51					0	0	0	0	T	17669265	C	T	17669265	3	4	307	1	0	0	0	0	1	0	0	0	3234	536	19	1	506	1	CECR1	22	17669265	Missense_Mutation	SNP	C	TCGA-CV-7413-01A-11D-2078-08		17669265	33635301	81	54968											
NHS	4810	broad.mit.edu	37	chrX	17744146	17744146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgggagcagctccacGtgcccctcgcagacctcaga	8	6	13	14	2	1	2	1	0	0	2	3	4	2	4	4	2	3	3	4	2	0	0			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chrX:17744146G>A	ENST00000380060.3	+	6	2195	c.1857G>A	c.(1855-1857)acG>acA	p.T619T	NHS_ENST00000398097.3_Silent_p.T463T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	619						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCAGCTCCACGTGCCCCTCGC	0.582													26	100					0	0	0	0	A	17744146	G	A	17744146	2	1	307	1	0	0	0	0	0	0	0	1	10481	1132	40	1		1	NHS	23	17744146	Silent	SNP	G	TCGA-CV-7413-01A-11D-2078-08		17744146	137526414	82	54969											
ZCCHC13	389874	broad.mit.edu	37	chrX	73524270	73524270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgagtccggtcgtaatGctaagaactgtgtccttctc	7	13	12	9	2	1	2	0	1	1	1	5	2	3	2	2	2	2	2	2	2	3	3			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chrX:73524270G>T	ENST00000339534.2	+	1	246	c.169G>T	c.(169-171)Gct>Tct	p.A57S		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	57							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						CGGTCGTAATGCTAAGAACTG	0.527													6	27					0.00116845	0.00126383	1	0	T	73524270	G	T	73524270	3	4	307	1	0	0	0	0	1	0	0	0	17677	1319	46	4	171	4	ZCCHC13	23	73524270	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	55780124	73524270	81746290	83	54970											
RNF128	79589	broad.mit.edu	37	chrX	105937342	105937342	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgtgactgtgacttattAcaatgaaaccagcaactaca	15	11	6	9	0	0	3	0	3	0	0	0	3	0	3	1	0	5	1	1	0	7	4			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chrX:105937342A>G	ENST00000324342.3	+	1	275	c.110A>G	c.(109-111)tAc>tGc	p.Y37C		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	52						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTGACTTATTACAATGAAACC	0.388													24	90					0	0	0	0	G	105937342	A	G	105937342	3	3	307	1	0	0	0	0	1	0	0	0	13521	391	14	5	112	5	RNF128	23	105937342	Missense_Mutation	SNP	A	TCGA-CV-7413-01A-11D-2078-08	32413072	105937342	49333218	84	54971											
MORC4	79710	broad.mit.edu	37	chrX	106228467	106228468	+	Frame_Shift_Ins	INS	-	-	T																															tgaatcctcggtaataatcaINSttttttgtaaaatcaaatat																										TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chrX:106228467_106228468insT	ENST00000355610.4	-	5	806_807	c.532_533insA	c.(532-534)gatfs	p.D178fs	MORC4_ENST00000255495.7_Frame_Shift_Ins_p.D178fs|MORC4_ENST00000535534.1_Intron	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	178							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGTAATAATCATTTTTTGTAAA	0.361													15	54	---	---	---	---					T	106228468	-	T	106228467	7	5	307	1	0	1	1	0	0	0	0	0	9774	217	8	0	2332	0	MORC4	23	106228467	Frame_Shift_Ins	INS	-	TCGA-CV-7413-01A-11D-2078-08	291125	106228467	49042093	85	54972											
AFF2	2334	broad.mit.edu	37	chrX	148055022	148055022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagaaatttggcaaagctGtgaattatgctgatgccgcc	11	11	11	8	2	0	3	0	2	0	1	1	4	0	3	2	1	3	3	2	1	4	2			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chrX:148055022G>A	ENST00000370460.2	+	16	3768	c.3289G>A	c.(3289-3291)Gtg>Atg	p.V1097M	AFF2_ENST00000342251.3_Missense_Mutation_p.V1064M|AFF2_ENST00000370457.5_Missense_Mutation_p.V1062M|AFF2_ENST00000286437.5_Missense_Mutation_p.V738M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1097					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCAAAGCTGTGAATTATGC	0.463													25	85					0	0	0	0	A	148055022	G	A	148055022	3	1	307	1	0	0	0	0	1	0	0	0	357	1377	48	4	3406	4	AFF2	23	148055022	Missense_Mutation	SNP	G	TCGA-CV-7413-01A-11D-2078-08	41826555	148055022	7215538	86	54973											
CA6	765	broad.mit.edu	37	chr1	9034714	9034714	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctgaattccagttttaccTacataagattgaggaaattc	13	14	6	8	0	1	3	0	2	1	1	3	4	2	4	2	1	2	1	2	1	5	7			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:9034714T>G	ENST00000377443.2	+	8	882	c.878T>G	c.(877-879)cTa>cGa	p.L293R	CA6_ENST00000377442.2_Missense_Mutation_p.L233R|CA6_ENST00000476083.1_3'UTR	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	293					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTTTTACCTACATAAGATT	0.383													8	10					0	0	0	0	G	9034714	T	G	9034714	3	3	308	1	0	0	0	0	1	0	0	0	2546	1522	53	5	908	5	CA6	1	9034714	Missense_Mutation	SNP	T	TCGA-CV-7414-01A-11D-2078-08		9034714	240215907	1	54974											
SLC2A5	6518	broad.mit.edu	37	chr1	9097693	9097693	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagttcctccttttcCgggtacacttcagacacctt	6	16	5	14	1	3	1	2	0	1	1	6	1	6	1	4	1	1	2	4	1	1	7			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:9097693C>T	ENST00000377424.4	-	12	1637	c.1458G>A	c.(1456-1458)ccG>ccA	p.P486P	SLC2A5_ENST00000535586.1_Silent_p.P371P|SLC2A5_ENST00000536305.1_Silent_p.P427P	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	486					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCTTTTCCGGGTACACTT	0.507													50	74					0	0	0	0	T	9097693	C	T	9097693	2	4	308	1	0	0	0	0	0	0	0	1	14636	639	23	1		1	SLC2A5	1	9097693	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	62979	9097693	240152928	2	54975											
CLSTN1	22883	broad.mit.edu	37	chr1	9794124	9794124	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctctcctgctcgtggttCagctcctctccctccaccgt	3	12	8	18	2	3	0	1	0	2	0	8	0	5	0	5	2	2	4	5	2	0	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:9794124C>G	ENST00000377298.4	-	15	2979	c.2187G>C	c.(2185-2187)ctG>ctC	p.L729L	CLSTN1_ENST00000377288.3_Silent_p.L710L|CLSTN1_ENST00000361311.4_Silent_p.L719L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	729					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCGTGGTTCAGCTCCTCTC	0.572													18	30					0	0	0	0	G	9794124	C	G	9794124	2	3	308	1	0	0	0	0	0	0	0	1	3591	813	29	2		2	CLSTN1	1	9794124	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	696431	9794124	239456497	3	54976											
CROCC	9696	broad.mit.edu	37	chr1	17266512	17266512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgcctgcgggacaagaccGacggcgccatgcaggcccac	9	2	14	16	5	0	1	0	0	0	1	0	3	0	2	4	3	3	1	4	3	1	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:17266512G>A	ENST00000375541.5	+	13	1801	c.1732G>A	c.(1732-1734)Gac>Aac	p.D578N	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	578					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGACAAGACCGACGGCGCCAT	0.706													6	33					0	0	0	0	A	17266512	G	A	17266512	3	1	308	1	0	0	0	0	1	0	0	0	3923	1058	37	1	1782	1	CROCC	1	17266512	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	7472388	17266512	231984109	4	54977											
YRDC	79693	broad.mit.edu	37	chr1	38272639	38272639	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgatcaggaatccgaaTgcctacaagctgtaaggcaa	15	7	10	9	1	1	1	1	1	0	0	2	3	2	2	2	2	4	4	2	2	6	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:38272639T>C	ENST00000373044.2	-	3	518	c.514A>G	c.(514-516)Att>Gtt	p.I172V		NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	172	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGAATCCGAATGCCTACAAGC	0.498													17	20					0	0	0	0	C	38272639	T	C	38272639	3	2	308	1	0	0	0	0	1	0	0	0	17590	1464	51	5	337	5	YRDC	1	38272639	Missense_Mutation	SNP	T	TCGA-CV-7414-01A-11D-2078-08	21006127	38272639	210977982	5	54978											
ELOVL1	64834	broad.mit.edu	37	chr1	43830081	43830081	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatccgtagtacaggtacaTtatgacatgcacggaagagt	14	10	10	7	2	0	2	0	1	0	1	1	3	1	3	1	2	3	4	1	2	6	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:43830081T>C	ENST00000372458.3	-	7	649	c.532A>G	c.(532-534)Atg>Gtg	p.M178V	ELOVL1_ENST00000413844.2_Missense_Mutation_p.M151V|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	178					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TACAGGTACATTATGACATGC	0.522													66	105					0	0	0	0	C	43830081	T	C	43830081	3	2	308	1	0	0	0	0	1	0	0	0	5111	1493	52	5	315	5	ELOVL1	1	43830081	Missense_Mutation	SNP	T	TCGA-CV-7414-01A-11D-2078-08	5557442	43830081	205420540	6	54979											
CYP4A11	1579	broad.mit.edu	37	chr1	47403778	47403778	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgtctccacccatttcTgaatccgttgtagctcctgg	7	13	9	12	1	2	1	0	1	2	0	5	2	4	2	4	2	1	3	4	2	3	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:47403778T>G	ENST00000310638.4	-	2	258	c.227A>C	c.(226-228)cAg>cCg	p.Q76P	CYP4A11_ENST00000371904.4_Missense_Mutation_p.Q76P|CYP4A11_ENST00000371905.1_Missense_Mutation_p.Q76P|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	76					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CACCCATTTCTGAATCCGTTG	0.488													26	53					0	0	0	0	G	47403778	T	G	47403778	3	3	308	1	0	0	0	0	1	0	0	0	4215	1580	55	5	1376	5	CYP4A11	1	47403778	Missense_Mutation	SNP	T	TCGA-CV-7414-01A-11D-2078-08	3573697	47403778	201846843	7	54980											
ZFYVE9	9372	broad.mit.edu	37	chr1	52759159	52759159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttgggacattccttcttCagtcaaagtttccttggcag	9	14	8	10	0	3	0	2	0	1	0	5	1	5	1	2	2	1	2	2	2	2	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:52759159C>T	ENST00000287727.3	+	11	3232	c.3060C>T	c.(3058-3060)ttC>ttT	p.F1020F	ZFYVE9_ENST00000357206.2_Silent_p.F961F|ZFYVE9_ENST00000371591.1_Silent_p.F1020F	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1020					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ATTCCTTCTTCAGTCAAAGTT	0.353													15	25					0	0	0	0	T	52759159	C	T	52759159	2	4	308	1	0	0	0	0	0	0	0	1	17766	825	29	2		2	ZFYVE9	1	52759159	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	5355381	52759159	196491462	8	54981											
COL11A1	1301	broad.mit.edu	37	chr1	103427750	103427750	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgagctccaggaagaccTctttcccctgggaaaccacg	10	7	9	15	1	1	2	0	1	1	1	3	4	3	4	6	2	2	1	6	2	2	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:103427750T>A	ENST00000358392.2	-	40	3449	c.3132A>T	c.(3130-3132)agA>agT	p.R1044S	COL11A1_ENST00000353414.4_Missense_Mutation_p.R993S|COL11A1_ENST00000370096.3_Missense_Mutation_p.R1032S|COL11A1_ENST00000512756.1_Missense_Mutation_p.R916S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1032	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGGAAGACCTCTTTCCCCTG	0.388													26	7					0	0	0	0	A	103427750	T	A	103427750	3	1	308	1	0	0	0	0	1	0	0	0	3697	1548	54	5	2436	5	COL11A1	1	103427750	Missense_Mutation	SNP	T	TCGA-CV-7414-01A-11D-2078-08	50668591	103427750	145822871	9	54982											
FCRL3	115352	broad.mit.edu	37	chr1	157666065	157666065	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accatattttctccttcaatCagctgccctccggtgggccg	6	12	8	15	2	3	0	2	0	1	0	5	0	4	0	5	2	2	1	5	2	2	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:157666065C>G	ENST00000368184.3	-	7	1188	c.897G>C	c.(895-897)ctG>ctC	p.L299L	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.L299L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	299	Ig-like C2-type 4.					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)					CTCCTTCAATCAGCTGCCCTC	0.517													7	95					0	0	0	0	G	157666065	C	G	157666065	2	3	308	1	0	0	0	0	0	0	0	1	5841	813	29	2		2	FCRL3	1	157666065	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	54238315	157666065	91584556	10	54983											
ARHGAP30	257106	broad.mit.edu	37	chr1	161021182	161021182	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctgtagagcagggcactCaaggccacgggtgagcctgg	8	6	17	10	1	1	2	1	1	0	1	1	2	1	2	2	4	3	4	2	4	2	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:161021182C>G	ENST00000368013.3	-	10	1662	c.1342G>C	c.(1342-1344)Gag>Cag	p.E448Q	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E271Q|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E448Q	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	448					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCAGGGCACTCAAGGCCACGG	0.627													6	49					0	0	0	0	G	161021182	C	G	161021182	3	3	308	1	0	0	0	0	1	0	0	0	881	835	29	2	1975	2	ARHGAP30	1	161021182	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	3355117	161021182	88229439	11	54984											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179815318	179815318	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgagtccatgtggttgaagGaggtgggagtgtcagagttg	8	11	18	4	0	1	3	1	2	0	1	2	5	2	5	1	4	0	2	1	4	1	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:179815318G>C	ENST00000367612.3	-	6	1688	c.1301C>G	c.(1300-1302)tCc>tGc	p.S434C		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	434						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GTGGTTGAAGGAGGTGGGAGT	0.502													5	61					0	0	0	0	C	179815318	G	C	179815318	3	2	308	1	0	0	0	0	1	0	0	0	16468	1174	41	2	115	2	TOR1AIP2	1	179815318	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	18794136	179815318	69435303	12	54985											
DHX9	1660	broad.mit.edu	37	chr1	182845596	182845596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atataggaagccatcggtatCagattctacccctgcattct	11	12	7	11	1	3	1	1	0	2	1	4	2	3	2	3	2	3	2	3	2	5	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:182845596C>G	ENST00000367549.3	+	18	2154	c.2044C>G	c.(2044-2046)Cag>Gag	p.Q682E		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	682	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CCATCGGTATCAGATTCTACC	0.383													6	56					0	0	0	0	G	182845596	C	G	182845596	3	3	308	1	0	0	0	0	1	0	0	0	4553	827	29	2	2110	2	DHX9	1	182845596	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	3030278	182845596	66405025	13	54986											
CDK18	5129	broad.mit.edu	37	chr1	205499409	205499409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaatccaagagtcgcatgtCagcagaggctgccctgagtc	10	8	12	11	1	1	4	1	2	0	2	4	4	2	4	2	1	2	3	2	1	2	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:205499409C>T	ENST00000360066.2	+	14	1545	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	CDK18_ENST00000506784.1_Missense_Mutation_p.S445L|CDK18_ENST00000429964.2_Missense_Mutation_p.S415L|CDK18_ENST00000509056.1_3'UTR	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	413	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						AGTCGCATGTCAGCAGAGGCT	0.622													5	70					0	0	0	0	T	205499409	C	T	205499409	3	4	308	1	0	0	0	0	1	0	0	0	3163	838	29	2	1384	2	CDK18	1	205499409	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	22653813	205499409	43751212	14	54987											
SLC26A9	115019	broad.mit.edu	37	chr1	205892256	205892256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgttgtgtgggcctcattCtccgcttctcctgcttcttg	1	18	9	13	1	5	0	1	0	4	0	7	0	5	0	3	1	1	3	3	1	0	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:205892256C>T	ENST00000367135.3	-	16	1840	c.1727G>A	c.(1726-1728)aGa>aAa	p.R576K	SLC26A9_ENST00000367134.2_Missense_Mutation_p.R576K|SLC26A9_ENST00000340781.4_Missense_Mutation_p.R576K	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	576	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGGCCTCATTCTCCGCTTCTC	0.517													28	78					0	0	0	0	T	205892256	C	T	205892256	3	4	308	1	0	0	0	0	1	0	0	0	14612	913	32	2	968	2	SLC26A9	1	205892256	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	392847	205892256	43358365	15	54988											
CR1	1378	broad.mit.edu	37	chr1	207787831	207787831	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcagtgttccagtgtgtGaacgtgagtagaaagaacta	14	10	12	5	1	0	4	0	2	0	2	1	4	1	4	1	0	3	3	1	0	6	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:207787831G>T	ENST00000367049.4	+	40	6658	c.6658G>T	c.(6658-6660)Gaa>Taa	p.E2220*	CR1_ENST00000400960.2_Nonsense_Mutation_p.E1770*|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000367052.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000367053.1_Nonsense_Mutation_p.E1770*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1770					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.E2220*(6)|p.E1775*(6)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCAGTGTGTGAACGTGAGTA	0.408													5	45					8.12818e-05	8.2443e-05	1	0	T	207787831	G	T	207787831	4	4	308	1	0	0	0	0	0	1	0	0	3870	1291	45	2	6816	2	CR1	1	207787831	Nonsense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1895575	207787831	41462790	16	54989											
CAPN2	824	broad.mit.edu	37	chr1	223958200	223958200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtaccatgaattcctatGaaatgcggaaggcattagaa	14	10	10	7	1	0	3	0	2	0	1	1	4	1	4	2	3	2	2	2	3	7	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:223958200G>A	ENST00000295006.5	+	18	2185	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	CAPN2_ENST00000433674.2_Missense_Mutation_p.E548K|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	626	Domain IV.|EF-hand 2.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GAATTCCTATGAAATGCGGAA	0.393													4	37					0	0	0	0	A	223958200	G	A	223958200	3	1	308	1	0	0	0	0	1	0	0	0	2652	1291	45	2	1953	2	CAPN2	1	223958200	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	16170369	223958200	25292421	17	54990											
EXOC8	149371	broad.mit.edu	37	chr1	231473420	231473420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcttcacgtacagccgCgcctcaaaaccccctgactc	9	7	7	18	3	2	1	2	1	0	0	3	1	2	1	4	0	5	3	4	0	3	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:231473420C>T	ENST00000366645.1	-	1	178	c.60G>A	c.(58-60)gcG>gcA	p.A20A	EXOC8_ENST00000360394.2_Silent_p.A24A|SPRTN_ENST00000391858.4_5'UTR			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	24					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CGTACAGCCGCGCCTCAAAAC	0.677													6	50					0	0	0	0	T	231473420	C	T	231473420	2	4	308	1	0	0	0	0	0	0	0	1	5348	755	27	1		1	EXOC8	1	231473420	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	7515220	231473420	17777201	18	54991											
SIPA1L2	57568	broad.mit.edu	37	chr1	232615429	232615429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacacgtggaacatgagttCgtagtctttgtatgtggtat	9	15	12	5	2	1	2	0	2	1	0	2	3	1	3	0	2	1	4	0	2	4	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:232615429C>T	ENST00000366630.1	-	6	2387	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E677K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	677	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.E677K(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AACATGAGTTCGTAGTCTTTG	0.458													5	57					0	0	0	0	T	232615429	C	T	232615429	3	4	308	1	0	0	0	0	1	0	0	0	14418	893	31	1	3207	1	SIPA1L2	1	232615429	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	1142009	232615429	16635192	19	54992											
GPR137B	7107	broad.mit.edu	37	chr1	236347168	236347168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttacctaccaccttagtcGtttatttcttccgagttaga	8	17	5	11	2	2	1	0	0	2	1	4	2	3	1	4	0	2	2	4	0	5	8	rs147708340		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:236347168G>A	ENST00000366592.3	+	5	1019	c.928G>A	c.(928-930)Gtt>Att	p.V310I	GPR137B_ENST00000477559.1_3'UTR	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	310						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CACCTTAGTCGTTTATTTCTT	0.373													18	28					0	0	0	0	A	236347168	G	A	236347168	3	1	308	1	0	0	0	0	1	0	0	0	6695	1145	40	1	946	1	GPR137B	1	236347168	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	3731739	236347168	12903453	20	54993											
OR6F1	343169	broad.mit.edu	37	chr1	247875239	247875239	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgttcaggacgtggacAgctttgatcagatccaaggc	11	9	12	9	1	2	2	2	1	0	1	3	4	3	4	1	3	1	2	1	3	1	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:247875239A>C	ENST00000302084.2	-	1	866	c.819T>G	c.(817-819)gcT>gcG	p.A273A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGACGTGGACAGCTTTGATCA	0.483													43	55					0	0	0	0	C	247875239	A	C	247875239	2	2	308	1	0	0	0	0	0	0	0	1	11272	175	7	5		5	OR6F1	1	247875239	Silent	SNP	A	TCGA-CV-7414-01A-11D-2078-08	11528071	247875239	1375382	21	54994											
SNTG2	54221	broad.mit.edu	37	chr2	1251141	1251141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagaaactccaaggagctGactcctctcaaaccttcaga	14	8	7	12	0	2	3	2	2	1	2	5	5	4	4	3	1	3	1	3	1	3	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:1251141G>A	ENST00000308624.5	+	12	1060	c.931G>A	c.(931-933)Gac>Aac	p.D311N	SNTG2_ENST00000407292.1_Missense_Mutation_p.D184N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	311	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCAAGGAGCTGACTCCTCTCA	0.502													11	22					0	0	0	0	A	1251141	G	A	1251141	3	1	308	1	0	0	0	0	1	0	0	0	14963	1290	45	2	977	2	SNTG2	2	1251141	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08		1251141	241948232	22	54995											
GREB1	9687	broad.mit.edu	37	chr2	11733135	11733135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtgcttactccctggccGagggcctctccgagatgttc	5	11	12	13	2	1	1	0	0	1	1	4	3	2	1	4	2	2	2	4	2	1	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:11733135G>A	ENST00000381486.2	+	11	1879	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	GREB1_ENST00000234142.5_Missense_Mutation_p.E527K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	527						integral to membrane		p.E527K(2)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCCCTGGCCGAGGGCCTCTC	0.667													3	11					0	0	0	0	A	11733135	G	A	11733135	3	1	308	1	0	0	0	0	1	0	0	0	6810	1059	37	1	1725	1	GREB1	2	11733135	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	10481994	11733135	231466238	23	54996											
ITSN2	50618	broad.mit.edu	37	chr2	24480764	24480764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagatgcttactcttcccGttttacttcactcccaggaa	10	14	5	12	1	2	1	1	0	1	1	4	2	4	2	2	1	3	2	2	1	5	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:24480764G>A	ENST00000355123.4	-	23	3324	c.2881C>T	c.(2881-2883)Cgg>Tgg	p.R961W	ITSN2_ENST00000406921.3_Missense_Mutation_p.R961W|ITSN2_ENST00000361999.3_Missense_Mutation_p.R934W	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	961					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTCTTCCCGTTTTACTTCA	0.403													27	43					0	0	0	0	A	24480764	G	A	24480764	3	1	308	1	0	0	0	0	1	0	0	0	7980	1144	40	1	2335	1	ITSN2	2	24480764	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	12747629	24480764	218718609	24	54997											
ITSN2	50618	broad.mit.edu	37	chr2	24494796	24494796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttccataagttttcttttCcttgctttgctttcctttac	4	23	3	11	0	1	0	0	0	1	0	4	0	4	0	3	0	3	3	3	0	2	11			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:24494796C>A	ENST00000355123.4	-	19	2539	c.2096G>T	c.(2095-2097)gGa>gTa	p.G699V	ITSN2_ENST00000406921.3_Missense_Mutation_p.G699V|ITSN2_ENST00000361999.3_Missense_Mutation_p.G672V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	699					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					gttttcttttccttgctttgc	0.299													16	5					1.3612e-06	1.38858e-06	1	0	A	24494796	C	A	24494796	3	1	308	1	0	0	0	0	1	0	0	0	7980	855	30	2	3136	2	ITSN2	2	24494796	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	14032	24494796	218704577	25	54998											
CGREF1	10669	broad.mit.edu	37	chr2	27324303	27324303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcccgggggcatctccttCagcctctgcctggcccccag	3	7	13	18	1	3	0	1	0	2	0	4	0	3	0	6	4	2	1	6	4	0	1	rs113949888		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:27324303C>T	ENST00000402394.1	-	6	1064	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	258					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTCCTTCAGCCTCTGCC	0.687													79	29					0	0	0	0	T	27324303	C	T	27324303	3	4	308	1	0	0	0	0	1	0	0	0	3334	835	29	2	356	2	CGREF1	2	27324303	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	2829507	27324303	215875070	26	54999											
PLB1	151056	broad.mit.edu	37	chr2	28812554	28812554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaccaggaaggattgcctGacaactctttcttcgctcct	8	12	9	12	1	2	2	0	2	2	0	4	4	3	4	3	2	2	1	3	2	2	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:28812554G>A	ENST00000422425.2	+	27	1944	c.1900G>A	c.(1900-1902)Gac>Aac	p.D634N	PLB1_ENST00000329020.6_Missense_Mutation_p.D333N|PLB1_ENST00000327757.5_Missense_Mutation_p.D645N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	645	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.D634N(1)|p.D645N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGGATTGCCTGACAACTCTTT	0.498													7	72					0	0	0	0	A	28812554	G	A	28812554	3	1	308	1	0	0	0	0	1	0	0	0	12096	1290	45	2	2076	2	PLB1	2	28812554	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1488251	28812554	214386819	27	55000											
C2orf71	388939	broad.mit.edu	37	chr2	29294945	29294945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagcttcttgacggatgttCtggtgggacagcctctgaca	8	12	12	9	1	3	2	0	2	3	0	3	4	3	4	1	3	2	2	1	3	1	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:29294945C>G	ENST00000331664.5	-	1	2182	c.2183G>C	c.(2182-2184)aGa>aCa	p.R728T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	728					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GACGGATGTTCTGGTGGGACA	0.547													5	80					0	0	0	0	G	29294945	C	G	29294945	3	3	308	1	0	0	0	0	1	0	0	0	2211	913	32	2	1691	2	C2orf71	2	29294945	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	482391	29294945	213904428	28	55001											
PRKD3	23683	broad.mit.edu	37	chr2	37520323	37520323	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcatgtatttcatctgctGaggtaatcagctgcaaaatg	11	14	8	8	0	4	1	3	1	1	0	4	1	4	1	0	1	3	5	0	1	4	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:37520323G>C	ENST00000379066.1	-	3	1142	c.380C>G	c.(379-381)tCa>tGa	p.S127*	PRKD3_ENST00000234179.2_Nonsense_Mutation_p.S127*			O94806	KPCD3_HUMAN	protein kinase D3	127					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTCATCTGCTGAGGTAATCAG	0.408													6	76					0	0	0	0	C	37520323	G	C	37520323	4	2	308	1	0	0	0	0	0	1	0	0	12600	1294	45	2	2360	2	PRKD3	2	37520323	Nonsense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	8225378	37520323	205679050	29	55002											
GKN1	56287	broad.mit.edu	37	chr2	69206027	69206027	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctgcaaccagactctttCaaaagaagacatgcattgtg	13	11	8	9	0	2	3	1	0	1	3	2	3	2	3	1	0	4	3	1	0	4	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:69206027C>T	ENST00000377938.2	+	4	334	c.271C>T	c.(271-273)Caa>Taa	p.Q91*		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	91	BRICHOS.				digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						CAGACTCTTTCAAAAGAAGAC	0.433													4	53					0	0	0	0	T	69206027	C	T	69206027	4	4	308	1	0	0	0	0	0	1	0	0	6475	827	29	2	285	2	GKN1	2	69206027	Nonsense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	31685704	69206027	173993346	30	55003											
POLR1A	25885	broad.mit.edu	37	chr2	86302279	86302279	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcctcattgatgaccatGgaggctcctgggtgcacatt	7	11	11	12	1	1	2	1	2	0	0	3	3	3	3	4	3	1	2	4	3	0	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:86302279G>A	ENST00000263857.6	-	12	1863	c.1485C>T	c.(1483-1485)tcC>tcT	p.S495S	POLR1A_ENST00000409681.1_Silent_p.S495S			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	495					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGATGACCATGGAGGCTCCTG	0.602													20	6					0	0	0	0	A	86302279	G	A	86302279	2	1	308	1	0	0	0	0	0	0	0	1	12281	1335	47	4		4	POLR1A	2	86302279	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	17096252	86302279	156897094	31	55004											
AFF3	3899	broad.mit.edu	37	chr2	100266105	100266105	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacctgtcagagagagcgcgGagagccgttctctgagctgc	8	8	14	11	3	2	4	1	1	1	3	3	6	2	4	2	1	5	2	2	1	1	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:100266105G>A	ENST00000317233.4	-	12	1402	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	AFF3_ENST00000409236.1_Silent_p.L389L|AFF3_ENST00000409579.1_Silent_p.L414L|AFF3_ENST00000356421.2_Silent_p.L414L	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	389					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGAGAGCGCGGAGAGCCGTTC	0.363													8	76					0	0	0	0	A	100266105	G	A	100266105	2	1	308	1	0	0	0	0	0	0	0	1	358	1161	41	2		2	AFF3	2	100266105	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	13963826	100266105	142933268	32	55005											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257406	114257406	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgcctcccaggacatgttCgacaatggcagctttctccg	7	9	9	16	3	1	0	0	0	1	0	4	2	2	1	4	2	1	3	4	2	1	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:114257406C>T	ENST00000306507.5	+	1	746	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	191					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						AGGACATGTTCGACAATGGCA	0.652													13	180					0	0	0	0	T	114257406	C	T	114257406	2	4	308	1	0	0	0	0	0	0	0	1	6045	883	31	1		1	FOXD4L1	2	114257406	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	13991301	114257406	128941967	33	55006											
TMEM177	80775	broad.mit.edu	37	chr2	120439145	120439145	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgccgcacggcctccctctCtgcagcctatgcctgtggtg	3	9	11	18	3	1	0	0	0	1	0	3	0	2	0	6	2	3	2	6	2	1	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:120439145C>G	ENST00000424086.1	+	2	1189	c.716C>G	c.(715-717)tCt>tGt	p.S239C	TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.S239C|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.S239C	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	239						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GCCTCCCTCTCTGCAGCCTAT	0.607													16	33					0	0	0	0	G	120439145	C	G	120439145	3	3	308	1	0	0	0	0	1	0	0	0	16188	913	32	2	718	2	TMEM177	2	120439145	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	6181739	120439145	122760228	34	55007											
NEB	4703	broad.mit.edu	37	chr2	152398055	152398055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgcttcttgcctgcagctCtgtagaccagctagacataa	9	12	8	12	0	3	2	0	0	3	2	3	2	3	2	2	0	5	5	2	0	3	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:152398055C>T	ENST00000427231.2	-	136	20790	c.20588G>A	c.(20587-20589)aGa>aAa	p.R6863K	NEB_ENST00000172853.10_Missense_Mutation_p.R5162K|NEB_ENST00000603639.1_Missense_Mutation_p.R6863K|NEB_ENST00000397345.3_Missense_Mutation_p.R6863K|NEB_ENST00000604864.1_Missense_Mutation_p.R6863K|NEB_ENST00000409198.1_Missense_Mutation_p.R5162K	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5162					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCTGCAGCTCTGTAGACCAG	0.433													7	90					0	0	0	0	T	152398055	C	T	152398055	3	4	308	1	0	0	0	0	1	0	0	0	10372	913	32	2	5286	2	NEB	2	152398055	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	31958910	152398055	90801318	35	55008											
BAZ2B	29994	broad.mit.edu	37	chr2	160194092	160194092	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agataccttctttcaatgttCcgctccaaatcagccagcct	10	12	5	14	1	3	1	2	0	1	1	5	1	5	1	5	0	3	2	5	0	3	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:160194092C>T	ENST00000392783.2	-	32	6141	c.5646G>A	c.(5644-5646)cgG>cgA	p.R1882R	BAZ2B_ENST00000392782.1_Silent_p.R1846R|BAZ2B_ENST00000355831.2_Silent_p.R1848R|BAZ2B_ENST00000343439.5_Silent_p.R1782R	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1882					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTCAATGTTCCGCTCCAAAT	0.488													37	84					0	0	0	0	T	160194092	C	T	160194092	2	4	308	1	0	0	0	0	0	0	0	1	1336	842	30	2		2	BAZ2B	2	160194092	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	7796037	160194092	83005281	36	55009											
XIRP2	129446	broad.mit.edu	37	chr2	168107133	168107133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaataaaattgccaaagaGaaaacagtacagcaccaagt	22	5	7	7	0	0	1	0	0	0	1	0	3	0	1	2	0	4	2	2	0	9	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:168107133G>T	ENST00000409195.1	+	9	9320	c.9231G>T	c.(9229-9231)gaG>gaT	p.E3077D	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2855D|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3077D|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2902					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						TTGCCAAAGAGAAAACAGTAC	0.353													55	18					1.27862e-28	1.35495e-28	1	0	T	168107133	G	T	168107133	3	4	308	1	0	0	0	0	1	0	0	0	17526	933	33	2	9261	2	XIRP2	2	168107133	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	7913041	168107133	75092240	37	55010											
ZAK	51776	broad.mit.edu	37	chr2	174131080	174131080	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaatactgacacctcttcaGagaggggtcgatactcagac	12	8	10	11	1	3	3	2	1	1	2	4	5	3	3	1	2	2	1	1	2	3	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:174131080G>C	ENST00000375213.3	+	20	2083	c.2005G>C	c.(2005-2007)Gag>Cag	p.E669Q	MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.E669Q	NM_016653.2	NP_057737.2																					CACCTCTTCAGAGAGGGGTCG	0.458													17	61					0	0	0	0	C	174131080	G	C	174131080	3	2	308	1	0	0	0	0	1	0	0	0	17608	943	33	2	2464	2	ZAK	2	174131080	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	6023947	174131080	69068293	38	55011											
TTN	7273	broad.mit.edu	37	chr2	179413442	179413442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaatctgttgtatggatatCagcccgaaggctaaggttag	11	11	13	6	1	2	0	1	0	1	0	2	3	2	2	1	4	1	4	1	4	6	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:179413442C>G	ENST00000589042.1	-	339	93135	c.92911G>C	c.(92911-92913)Gat>Cat	p.D30971H	TTN_ENST00000342992.6_Missense_Mutation_p.D28403H|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22031H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D29330H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D21906H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22098H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29330	Fibronectin type-III 126.						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)			GTATGGATATCAGCCCGAAGG	0.478													5	73					0	0	0	0	G	179413442	C	G	179413442	3	3	308	1	0	0	0	0	1	0	0	0	16831	826	29	2	15164	2	TTN	2	179413442	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	5282362	179413442	63785931	39	55012											
TRAK2	66008	broad.mit.edu	37	chr2	202285154	202285154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttaccagtgatgctctccGagtctctgtgattgctattc	7	15	8	11	1	2	2	0	2	2	0	5	3	2	2	2	0	3	2	2	0	2	4	rs146913241	byFrequency	TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:202285154G>A	ENST00000332624.3	-	2	505	c.77C>T	c.(76-78)tCg>tTg	p.S26L	TRAK2_ENST00000430254.1_Missense_Mutation_p.S26L|TRAK2_ENST00000451703.1_5'UTR	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	26						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GATGCTCTCCGAGTCTCTGTG	0.398													11	88					0	0	0	0	A	202285154	G	A	202285154	3	1	308	1	0	0	0	0	1	0	0	0	16545	1059	37	1	2727	1	TRAK2	2	202285154	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	22871712	202285154	40914219	40	55013											
ILKAP	80895	broad.mit.edu	37	chr2	239079271	239079271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcaggctgcttcgtagCgggcgtcggctgcggacttc	3	11	16	11	5	0	0	0	0	0	0	3	1	0	1	0	4	4	6	0	4	1	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:239079271C>T	ENST00000254654.3	-	12	1260	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	362	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TGCTTCGTAGCGGGCGTCGGC	0.612													20	27					0	0	0	0	T	239079271	C	T	239079271	3	4	308	1	0	0	0	0	1	0	0	0	7767	768	27	1	97	1	ILKAP	2	239079271	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	36794117	239079271	4120102	41	55014											
BRPF1	7862	broad.mit.edu	37	chr3	9786777	9786777	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatgactgcagccttccccgGagcagctcagactctgagtc	9	8	10	14	1	2	3	1	2	1	1	4	4	3	4	3	1	4	3	3	1	1	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:9786777G>C	ENST00000383829.2	+	10	3410	c.3006G>C	c.(3004-3006)cgG>cgC	p.R1002R	BRPF1_ENST00000302054.3_Silent_p.R996R|BRPF1_ENST00000424362.1_Silent_p.R995R|BRPF1_ENST00000457855.1_Silent_p.R996R|BRPF1_ENST00000433861.2_Silent_p.R901R	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	996	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GCCTTCCCCGGAGCAGCTCAG	0.557													11	18					0	0	0	0	C	9786777	G	C	9786777	2	2	308	1	0	0	0	0	0	0	0	1	1528	1161	41	2		2	BRPF1	3	9786777	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08		9786777	188235653	42	55015											
SLC6A1	6529	broad.mit.edu	37	chr3	11072889	11072889	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttatgtcttcaaactcttTgactactactctgccagtgg	9	16	6	10	0	4	1	1	1	3	0	4	1	4	1	1	1	4	0	1	1	4	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:11072889T>C	ENST00000287766.4	+	13	1771	c.1350T>C	c.(1348-1350)ttT>ttC	p.F450F	SLC6A1_ENST00000536032.1_Silent_p.F272F	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	450					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCAAACTCTTTGACTACTACT	0.498													25	95					0	0	0	0	C	11072889	T	C	11072889	2	2	308	1	0	0	0	0	0	0	0	1	14761	1809	63	5		5	SLC6A1	3	11072889	Silent	SNP	T	TCGA-CV-7414-01A-11D-2078-08	1286112	11072889	186949541	43	55016											
C3orf20	84077	broad.mit.edu	37	chr3	14799082	14799082	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagtgctggtgtttgggatCatctcaagccagaactacac	11	10	10	10	0	2	1	2	0	1	1	3	2	2	2	1	2	4	2	1	2	4	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:14799082C>T	ENST00000253697.3	+	13	2597	c.2145C>T	c.(2143-2145)atC>atT	p.I715I	C3orf20_ENST00000435614.1_Silent_p.I593I|C3orf20_ENST00000412910.1_Silent_p.I593I	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	715						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGTTTGGGATCATCTCAAGCC	0.637													4	28					0	0	0	0	T	14799082	C	T	14799082	2	4	308	1	0	0	0	0	0	0	0	1	2233	816	29	2		2	C3orf20	3	14799082	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	3726193	14799082	183223348	44	55017											
SATB1	6304	broad.mit.edu	37	chr3	18462478	18462478	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atactcagtcactgtctaaaGatcacctgccagaatttaaa	15	11	5	10	0	4	2	3	0	1	2	4	2	4	2	2	0	2	0	2	0	6	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:18462478G>C	ENST00000338745.6	-	0	1716				SATB1_ENST00000454909.2_De_novo_Start_InFrame|SATB1_ENST00000417717.2_De_novo_Start_InFrame|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000493952.2_De_novo_Start_InFrame	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1						cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ACTGTCTAAAGATCACCTGCC	0.418													7	49					0	0	0	0	C	18462478	G	C	18462478	1	2	308	1	0	0	0	0	0	0	0	0	13939	957	33	2		2	SATB1	3	18462478	Translation_Start_Site	SNP	G	TCGA-CV-7414-01A-11D-2078-08	3663396	18462478	179559952	45	55018											
KAT2B	8850	broad.mit.edu	37	chr3	20181763	20181763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaaatatgttggctatatCaaggattatgaaggagccac	15	10	9	7	0	1	1	1	1	0	0	1	3	1	3	2	3	1	2	2	3	7	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:20181763C>G	ENST00000263754.4	+	13	2366	c.1911C>G	c.(1909-1911)atC>atG	p.I637M		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	637	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TTGGCTATATCAAGGATTATG	0.353													5	44					0	0	0	0	G	20181763	C	G	20181763	3	3	308	1	0	0	0	0	1	0	0	0	8035	816	29	2	1961	2	KAT2B	3	20181763	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	1719285	20181763	177840667	46	55019											
SCN11A	11280	broad.mit.edu	37	chr3	38888469	38888469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcatactatctaggccatCagagccaccgagtaccctag	11	10	7	13	1	3	1	2	0	1	1	3	2	3	1	4	1	3	1	4	1	5	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:38888469C>G	ENST00000302328.3	-	26	5290	c.5092G>C	c.(5092-5094)Gat>Cat	p.D1698H	SCN11A_ENST00000456224.3_Missense_Mutation_p.D1660H|SCN11A_ENST00000450244.1_Missense_Mutation_p.D1698H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1698					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTAGGCCATCAGAGCCACCG	0.453													4	74					0	0	0	0	G	38888469	C	G	38888469	3	3	308	1	0	0	0	0	1	0	0	0	14000	826	29	2	287	2	SCN11A	3	38888469	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	18706706	38888469	159133961	47	55020											
SCN11A	11280	broad.mit.edu	37	chr3	38941542	38941542	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatttttaggcacatttctGctataaaaatgctagtgaaa	14	15	7	5	0	1	2	0	2	1	0	1	2	1	2	0	1	2	3	0	1	7	7			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:38941542G>C	ENST00000302328.3	-	13	2063	c.1865C>G	c.(1864-1866)gCa>gGa	p.A622G	SCN11A_ENST00000444237.2_Missense_Mutation_p.A622G|SCN11A_ENST00000456224.3_Missense_Mutation_p.A622G|SCN11A_ENST00000450244.1_Missense_Mutation_p.A622G	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	622					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCACATTTCTGCTATAAAAAT	0.428													3	19					0	0	0	0	C	38941542	G	C	38941542	3	2	308	1	0	0	0	0	1	0	0	0	14000	1319	46	4	3566	4	SCN11A	3	38941542	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	53073	38941542	159080888	48	55021											
XCR1	2829	broad.mit.edu	37	chr3	46062824	46062824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtcctgaggatctccaCgtagcagaacaggataatcc	12	7	11	11	1	1	2	0	1	1	1	4	4	3	4	3	3	2	2	3	3	3	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:46062824C>T	ENST00000309285.3	-	2	972	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	XCR1_ENST00000542109.1_Missense_Mutation_p.V206M	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	206					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGGATCTCCACGTAGCAGAAC	0.587													9	12					0	0	0	0	T	46062824	C	T	46062824	3	4	308	1	0	0	0	0	1	0	0	0	17521	536	19	1	389	1	XCR1	3	46062824	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	7121282	46062824	151959606	49	55022											
BSN	8927	broad.mit.edu	37	chr3	49699342	49699342	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctccagctgccatctcctCaaagcgcagcaagcaccgga	10	5	10	16	2	2	0	1	0	1	0	4	1	3	1	4	2	5	5	4	2	2	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:49699342C>G	ENST00000296452.4	+	6	10178	c.10064C>G	c.(10063-10065)tCa>tGa	p.S3355*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3355					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCATCTCCTCAAAGCGCAGC	0.572													3	29					0	0	0	0	G	49699342	C	G	49699342	4	3	308	1	0	0	0	0	0	1	0	0	1538	838	29	2	10086	2	BSN	3	49699342	Nonsense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	3636518	49699342	148323088	50	55023											
TEX264	51368	broad.mit.edu	37	chr3	51708516	51708516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agactgggcggcttttcactGagagctgcagcatctctccc	7	10	11	13	1	2	2	1	1	1	2	4	3	3	2	1	2	3	4	1	2	0	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:51708516G>C	ENST00000415259.1	+	2	1277	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	TEX264_ENST00000416589.1_Missense_Mutation_p.E66Q|TEX264_ENST00000341333.5_Missense_Mutation_p.E66Q|TEX264_ENST00000457573.1_Missense_Mutation_p.E66Q|TEX264_ENST00000395057.1_Missense_Mutation_p.E66Q			Q9Y6I9	TX264_HUMAN	testis expressed 264	66						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GCTTTTCACTGAGAGCTGCAG	0.587													4	39					0	0	0	0	C	51708516	G	C	51708516	3	2	308	1	0	0	0	0	1	0	0	0	15877	1291	45	2	198	2	TEX264	3	51708516	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	2009174	51708516	146313914	51	55024											
RYBP	23429	broad.mit.edu	37	chr3	72428559	72428559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacttgttgtgccaccagctGagaattgatccgaggttttc	8	13	10	10	1	0	2	0	2	0	1	2	4	1	2	3	1	2	3	3	1	1	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:72428559G>A	ENST00000477973.1	-	2	442	c.443C>T	c.(442-444)tCa>tTa	p.S148L		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	200	Interaction with E4TF1B.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GCCACCAGCTGAGAATTGATC	0.388													16	18					0	0	0	0	A	72428559	G	A	72428559	3	1	308	1	0	0	0	0	1	0	0	0	13851	1299	45	2	520	2	RYBP	3	72428559	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	20720043	72428559	125593871	52	55025											
DPPA2	151871	broad.mit.edu	37	chr3	109028157	109028157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtggagctgtaaattgctCatttgtttgaagtagatgac	10	16	11	4	0	1	3	1	2	0	1	1	4	1	4	0	1	2	5	0	1	4	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:109028157C>T	ENST00000478945.1	-	4	448	c.202G>A	c.(202-204)Gag>Aag	p.E68K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	68						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAAATTGCTCATTTGTTTGA	0.383													5	112					0	0	0	0	T	109028157	C	T	109028157	3	4	308	1	0	0	0	0	1	0	0	0	4770	835	29	2	714	2	DPPA2	3	109028157	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	36599598	109028157	88994273	53	55026											
MUC13	56667	broad.mit.edu	37	chr3	124646819	124646819	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggttgttacagcatcagctGagttgccttggttggtggct	5	15	14	7	0	1	1	1	1	0	0	1	1	1	1	1	4	4	7	1	4	1	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:124646819G>C	ENST00000311075.3	-	2	109	c.71C>G	c.(70-72)tCa>tGa	p.S24*	MUC13_ENST00000497378.1_5'UTR	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	24						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AGCATCAGCTGAGTTGCCTTG	0.428													5	110					0	0	0	0	C	124646819	G	C	124646819	4	2	308	1	0	0	0	0	0	1	0	0	10041	1294	45	2	1504	2	MUC13	3	124646819	Nonsense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	15618662	124646819	73375611	54	55027											
MSL2	55167	broad.mit.edu	37	chr3	135870295	135870295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagggcagcgttggcctcgGcatgtaagaacacttggatt	10	9	13	9	2	0	1	0	0	0	1	1	2	0	2	1	4	2	4	1	4	3	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:135870295G>C	ENST00000309993.2	-	2	2160	c.1428C>G	c.(1426-1428)tgC>tgG	p.C476W	MSL2_ENST00000434835.2_Missense_Mutation_p.C402W	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	476					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GTTGGCCTCGGCATGTAAGAA	0.478													21	48					0	0	0	0	C	135870295	G	C	135870295	3	2	308	1	0	0	0	0	1	0	0	0	9948	1195	42	4	309	4	MSL2	3	135870295	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	11223476	135870295	62152135	55	55028											
A4GNT	51146	broad.mit.edu	37	chr3	137850006	137850006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttgaaagaaggcaaacaGaagaggcagctggacttcag	16	5	13	7	0	1	4	1	1	0	3	1	6	1	5	0	3	2	3	0	3	4	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:137850006G>C	ENST00000236709.3	-	2	294	c.93C>G	c.(91-93)ttC>ttG	p.F31L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	31					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AAGGCAAACAGAAGAGGCAGC	0.562													5	90					0	0	0	0	C	137850006	G	C	137850006	3	2	308	1	0	0	0	0	1	0	0	0	7	933	33	2	937	2	A4GNT	3	137850006	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1979711	137850006	60172424	56	55029											
COPB2	9276	broad.mit.edu	37	chr3	139093347	139093347	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaccatcttctgaacctgtGataatgattggcaactcagg	11	13	8	9	0	3	3	1	3	2	0	3	3	3	3	2	2	3	1	2	2	4	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:139093347G>A	ENST00000333188.5	-	7	916	c.735C>T	c.(733-735)atC>atT	p.I245I	COPB2_ENST00000507777.1_Silent_p.I216I	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	245					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CTGAACCTGTGATAATGATTG	0.388													33	72					0	0	0	0	A	139093347	G	A	139093347	2	1	308	1	0	0	0	0	0	0	0	1	3759	1280	45	2		2	COPB2	3	139093347	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1243341	139093347	58929083	57	55030											
PTX3	5806	broad.mit.edu	37	chr3	157160376	157160376	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtgtttgtggtgggtggaGaggagaacaaactggttgct	9	12	17	3	0	0	2	0	0	0	2	0	4	0	2	0	5	3	3	0	5	3	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:157160376G>C	ENST00000295927.3	+	3	899	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	252	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTGGGTGGAGAGGAGAACAA	0.488													39	78					0	0	0	0	C	157160376	G	C	157160376	3	2	308	1	0	0	0	0	1	0	0	0	12904	943	33	2	764	2	PTX3	3	157160376	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	18067029	157160376	40862054	58	55031											
SI	6476	broad.mit.edu	37	chr3	164785231	164785231	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgggtccagtaaactcttTtacatactgatgaggaactt	11	14	9	7	0	1	2	0	2	1	0	2	3	2	3	1	2	4	1	1	2	5	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:164785231T>G	ENST00000264382.3	-	6	594	c.532A>C	c.(532-534)Aaa>Caa	p.K178Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	178	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTAAACTCTTTTACATACTGA	0.343										HNSCC(35;0.089)			33	79					0	0	0	0	G	164785231	T	G	164785231	3	3	308	1	0	0	0	0	1	0	0	0	14385	1850	64	5	5123	5	SI	3	164785231	Missense_Mutation	SNP	T	TCGA-CV-7414-01A-11D-2078-08	7624855	164785231	33237199	59	55032											
PRKCI	5584	broad.mit.edu	37	chr3	170011198	170011198	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgttgactggtgggctcttgGagtgctcatgtttgagatga	6	15	15	5	0	2	3	1	3	1	1	2	5	2	4	0	3	1	4	0	3	0	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:170011198G>C	ENST00000295797.4	+	14	1624	c.1319G>C	c.(1318-1320)gGa>gCa	p.G440A		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	440	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGGGCTCTTGGAGTGCTCATG	0.393													21	71					0	0	0	0	C	170011198	G	C	170011198	3	2	308	1	0	0	0	0	1	0	0	0	12594	1174	41	2	1373	2	PRKCI	3	170011198	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	5225967	170011198	28011232	60	55033											
MCF2L2	23101	broad.mit.edu	37	chr3	182923993	182923993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagctggcgaattgaaaGtgtcatcagctattataaag	14	11	9	7	1	2	1	2	1	0	0	3	2	3	1	1	1	2	2	1	1	7	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:182923993G>C	ENST00000328913.3	-	24	3019	c.2722C>G	c.(2722-2724)Ctt>Gtt	p.L908V	MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.L908V	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	908	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGAATTGAAAGTGTCATCAGC	0.408													8	95					0	0	0	0	C	182923993	G	C	182923993	3	2	308	1	0	0	0	0	1	0	0	0	9449	1029	36	4	650	4	MCF2L2	3	182923993	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	12912795	182923993	15098437	61	55034											
EIF4A2	1974	broad.mit.edu	37	chr3	186504984	186504984	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacaggctgttatttttctCaatacgaggcgcaaggtgga	11	11	11	8	2	1	0	1	0	1	0	2	2	1	1	0	4	1	3	0	4	4	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:186504984C>G	ENST00000323963.5	+	8	904	c.840C>G	c.(838-840)ctC>ctG	p.L280L	EIF4A2_ENST00000440191.2_Silent_p.L281L|EIF4A2_ENST00000356531.5_Silent_p.L185L			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	280	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TTATTTTTCTCAATACGAGGC	0.423			T	BCL6	NHL								27	139					0	0	0	0	G	186504984	C	G	186504984	2	3	308	1	0	0	0	0	0	0	0	1	5063	813	29	2		2	EIF4A2	3	186504984	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	3580991	186504984	11517446	62	55035											
ZNF595	152687	broad.mit.edu	37	chr4	59346	59346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtaacattcagggatgtGgccatagaattctcccctga	10	11	9	11	1	2	2	1	1	1	1	4	3	2	3	3	2	1	1	3	2	3	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:59346G>A	ENST00000509152.2	+	2	212	c.27G>A	c.(25-27)gtG>gtA	p.V9V	ZNF595_ENST00000526473.2_Silent_p.V9V|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TCAGGGATGTGGCCATAGAAT	0.413													53	173					0	0	0	0	A	59346	G	A	59346	2	1	308	1	0	0	0	0	0	0	0	1	18120	1335	47	4		4	ZNF595	4	59346	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08		59346	191094930	63	55036											
JAKMIP1	152789	broad.mit.edu	37	chr4	6055779	6055779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagatagagtctcttacttCgagttctagcactctgaatt	11	14	7	9	1	3	3	0	1	3	2	5	4	3	3	0	0	2	2	0	0	4	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:6055779C>T	ENST00000409021.3	-	13	2253	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E602K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E602K|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E417K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E437K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	602	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTCTTACTTCGAGTTCTAGC	0.403													9	135					0	0	0	0	T	6055779	C	T	6055779	3	4	308	1	0	0	0	0	1	0	0	0	7993	893	31	1	802	1	JAKMIP1	4	6055779	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	5996433	6055779	185098497	64	55037											
MAN2B2	23324	broad.mit.edu	37	chr4	6606982	6606982	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccatgcgggcaggtacttGgtgcctgtggcaaacgactg	8	8	15	10	2	0	0	0	0	0	0	0	1	0	0	2	4	5	3	2	4	2	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:6606982G>A	ENST00000285599.3	+	11	1776	c.1740G>A	c.(1738-1740)ttG>ttA	p.L580L	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Silent_p.L529L	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	580					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCAGGTACTTGGTGCCTGTGG	0.612													39	7					0	0	0	0	A	6606982	G	A	6606982	2	1	308	1	0	0	0	0	0	0	0	1	9286	1339	47	4		4	MAN2B2	4	6606982	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	551203	6606982	184547294	65	55038											
SORCS2	57537	broad.mit.edu	37	chr4	7714493	7714493	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcagcttccgctccgattgGgagctggtcaaggtggactt	7	11	13	10	2	2	0	2	0	0	0	4	3	4	2	2	4	2	3	2	4	1	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:7714493G>C	ENST00000507866.2	+	15	2011	c.1902G>C	c.(1900-1902)tgG>tgC	p.W634C	SORCS2_ENST00000329016.9_Missense_Mutation_p.W462C	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	634						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GCTCCGATTGGGAGCTGGTCA	0.597													18	20					0	0	0	0	C	7714493	G	C	7714493	3	2	308	1	0	0	0	0	1	0	0	0	15019	1241	43	4	1960	4	SORCS2	4	7714493	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1107511	7714493	183439783	66	55039											
NSUN7	79730	broad.mit.edu	37	chr4	40752793	40752793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcacttccctgcctctgtCcggtgggaaaagctcagctg	7	10	10	14	1	3	0	2	0	1	0	5	1	5	1	3	2	3	2	3	2	2	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:40752793C>A	ENST00000381782.2	+	2	578	c.83C>A	c.(82-84)tCc>tAc	p.S28Y	NSUN7_ENST00000316607.5_Missense_Mutation_p.S28Y	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTGCCTCTGTCCGGTGGGAAA	0.527													54	52					3.68337e-26	3.89166e-26	1	0	A	40752793	C	A	40752793	3	1	308	1	0	0	0	0	1	0	0	0	10754	855	30	2	85	2	NSUN7	4	40752793	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	33038300	40752793	150401483	67	55040											
FRYL	285527	broad.mit.edu	37	chr4	48581067	48581067	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctcacagctgtagagcaGtgtttaggaagattttcttg	10	14	11	6	0	2	2	1	0	1	2	2	3	2	3	0	1	3	5	0	1	4	7			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:48581067G>C	ENST00000358350.4	-	23	3055	c.2451C>G	c.(2449-2451)caC>caG	p.H817Q	FRYL_ENST00000503238.1_Missense_Mutation_p.H817Q|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.H817Q|FRYL_ENST00000507711.1_Missense_Mutation_p.H817Q	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGTAGAGCAGTGTTTAGGAA	0.393													40	62					0	0	0	0	C	48581067	G	C	48581067	3	2	308	1	0	0	0	0	1	0	0	0	6112	1020	36	4	6758	4	FRYL	4	48581067	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	7828274	48581067	142573209	68	55041											
REST	5978	broad.mit.edu	37	chr4	57777137	57777137	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggactggaaaacatggaactGagaagtttggaactcagcgt	14	8	13	6	1	1	1	1	1	0	1	1	6	1	5	0	4	4	1	0	4	5	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:57777137G>C	ENST00000309042.7	+	2	647	c.333G>C	c.(331-333)ctG>ctC	p.L111L		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	111	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ACATGGAACTGAGAAGTTTGG	0.433													19	56					0	0	0	0	C	57777137	G	C	57777137	2	2	308	1	0	0	0	0	0	0	0	1	13316	1277	45	2		2	REST	4	57777137	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	9196070	57777137	133377139	69	55042											
ENAM	10117	broad.mit.edu	37	chr4	71509397	71509397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctactacgttaataatgccGctggaccagaagaaagcact	14	8	9	10	2	0	2	0	0	0	2	0	3	0	3	2	1	4	4	2	1	6	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:71509397G>A	ENST00000396073.3	+	9	2535	c.2254G>A	c.(2254-2256)Gct>Act	p.A752T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	752					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.A752T(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAATAATGCCGCTGGACCAGA	0.453													27	38					0	0	0	0	A	71509397	G	A	71509397	3	1	308	1	0	0	0	0	1	0	0	0	5150	1087	38	1	2284	1	ENAM	4	71509397	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	13732260	71509397	119644879	70	55043											
MAPK10	5602	broad.mit.edu	37	chr4	87028405	87028405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcacacacttcatgaggaCcagctcccggtacgctctct	8	10	8	15	2	3	1	2	1	1	0	5	2	4	2	2	2	2	4	2	2	1	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:87028405C>T	ENST00000395169.3	-	5	943	c.223G>A	c.(223-225)Gtc>Atc	p.V75I	MAPK10_ENST00000395166.1_Missense_Mutation_p.V75I|MAPK10_ENST00000359221.3_Missense_Mutation_p.V113I|MAPK10_ENST00000395160.3_5'UTR|MAPK10_ENST00000361569.2_Missense_Mutation_p.V113I|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395157.3_5'UTR|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000395161.2_Missense_Mutation_p.V113I	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	113	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TTCATGAGGACCAGCTCCCGG	0.438													28	36					0	0	0	0	T	87028405	C	T	87028405	3	4	308	1	0	0	0	0	1	0	0	0	9341	507	18	4	1102	4	MAPK10	4	87028405	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	15519008	87028405	104125871	71	55044											
SLC10A6	345274	broad.mit.edu	37	chr4	87754557	87754557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcccagggcggccacggtgGaacaggttgtcatactgatg	8	9	14	10	2	1	1	1	1	0	0	2	2	2	2	2	5	2	1	2	5	2	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:87754557G>A	ENST00000273905.6	-	2	545	c.398C>T	c.(397-399)tCc>tTc	p.S133F	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	133						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GGCCACGGTGGAACAGGTTGT	0.443													19	61					0	0	0	0	A	87754557	G	A	87754557	3	1	308	1	0	0	0	0	1	0	0	0	14466	1174	41	2	755	2	SLC10A6	4	87754557	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	726152	87754557	103399719	72	55045											
KIAA1109	84162	broad.mit.edu	37	chr4	123160874	123160874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagtttagtagtgatgtctCtcgaagtgatgagaatgtac	11	13	11	6	1	1	3	0	3	1	1	3	5	1	3	1	0	1	3	1	0	5	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:123160874C>G	ENST00000264501.4	+	29	4410	c.4037C>G	c.(4036-4038)tCt>tGt	p.S1346C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1346C|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1346C|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1346					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGTGATGTCTCTCGAAGTGAT	0.433													6	129					0	0	0	0	G	123160874	C	G	123160874	3	3	308	1	0	0	0	0	1	0	0	0	8259	913	32	2	4143	2	KIAA1109	4	123160874	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	35406317	123160874	67993402	73	55046											
KIAA0922	23240	broad.mit.edu	37	chr4	154502640	154502640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaacttttcaaaagaatttGaagaaaacacacaacatttg	21	10	4	6	0	1	3	1	1	0	2	1	3	1	3	0	0	3	0	0	0	9	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:154502640G>C	ENST00000409959.3	+	9	869	c.820G>C	c.(820-822)Gaa>Caa	p.E274Q	KIAA0922_ENST00000409663.3_Missense_Mutation_p.E274Q|KIAA0922_ENST00000440693.1_Missense_Mutation_p.E274Q	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	274						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AAAAGAATTTGAAGAAAACAC	0.343													3	33					0	0	0	0	C	154502640	G	C	154502640	3	2	308	1	0	0	0	0	1	0	0	0	8252	1291	45	2	854	2	KIAA0922	4	154502640	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	31341766	154502640	36651636	74	55047											
SORBS2	8470	broad.mit.edu	37	chr4	186567862	186567862	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatgacttgccaggttcaTattcaaaaatactccttggc	11	14	7	9	0	2	2	2	2	0	0	3	2	3	2	2	2	2	1	2	2	4	7			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:186567862T>C	ENST00000431808.1	-	11	1207	c.644A>G	c.(643-645)tAt>tGt	p.Y215C	SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000418609.1_Missense_Mutation_p.Y119C|SORBS2_ENST00000393528.3_Missense_Mutation_p.Y261C|SORBS2_ENST00000355634.5_Missense_Mutation_p.Y315C|SORBS2_ENST00000437304.2_Missense_Mutation_p.Y394C|SORBS2_ENST00000319471.9_Missense_Mutation_p.Y301C|SORBS2_ENST00000284776.7_Missense_Mutation_p.Y215C|SORBS2_ENST00000449407.2_Missense_Mutation_p.Y286C|SORBS2_ENST00000448662.2_Missense_Mutation_p.Y284C			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	215						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCCAGGTTCATATTCAAAAAT	0.428													26	12					0	0	0	0	C	186567862	T	C	186567862	3	2	308	1	0	0	0	0	1	0	0	0	15016	1406	49	5	3018	5	SORBS2	4	186567862	Missense_Mutation	SNP	T	TCGA-CV-7414-01A-11D-2078-08	32065222	186567862	4586414	75	55048											
KLKB1	3818	broad.mit.edu	37	chr4	187173205	187173205	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagcacacgcattgttggAggaacaaactcttcttgggg	12	9	11	9	1	2	0	0	0	2	0	2	2	2	2	0	4	3	3	0	4	3	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:187173205A>G	ENST00000264690.6	+	11	1366	c.1179A>G	c.(1177-1179)ggA>ggG	p.G393G	KLKB1_ENST00000513864.1_Silent_p.G393G	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	393	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GCATTGTTGGAGGAACAAACT	0.507													25	15					0	0	0	0	G	187173205	A	G	187173205	2	3	308	1	0	0	0	0	0	0	0	1	8464	291	11	5		5	KLKB1	4	187173205	Silent	SNP	A	TCGA-CV-7414-01A-11D-2078-08	605343	187173205	3981071	76	55049											
FAT1	2195	broad.mit.edu	37	chr4	187539265	187539266	+	Frame_Shift_Ins	INS	-	-	C																															tgatctgaattactctacttINSccccctggcaggttttcaac																										TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:187539265_187539266insC	ENST00000441802.2	-	10	8683_8684	c.8474_8475insG	c.(8473-8475)gagfs	p.E2825fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2825	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTACTCTACTTCCCCCTGGCAG	0.436										HNSCC(5;0.00058)			29	24	---	---	---	---					C	187539266	-	C	187539265	7	5	308	1	0	1	1	0	0	0	0	0	5734	1770	62	0	5363	0	FAT1	4	187539265	Frame_Shift_Ins	INS	-	TCGA-CV-7414-01A-11D-2078-08	366060	187539265	3615011	77	55050											
LRRC14B	389257	broad.mit.edu	37	chr5	192316	192316	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctggaggtggtgcacaaCgtgcggctgcatgcgggcca	8	6	17	10	3	0	0	0	0	0	0	0	1	0	1	1	5	6	4	1	5	2	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:192316C>T	ENST00000328278.3	+	1	691	c.663C>T	c.(661-663)aaC>aaT	p.N221N		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	221										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TGGTGCACAACGTGCGGCTGC	0.716													3	4					0	0	0	0	T	192316	C	T	192316	2	4	308	1	0	0	0	0	0	0	0	1	9033	535	19	1		1	LRRC14B	5	192316	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08		192316	180722944	78	55051											
DNAH5	1767	broad.mit.edu	37	chr5	13885256	13885256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttctttctttttcctcGtgactgtcgtcaaaagcagg	7	16	8	10	2	3	1	1	1	2	0	6	1	4	1	1	1	1	2	1	1	2	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:13885256G>A	ENST00000265104.4	-	19	2929	c.2825C>T	c.(2824-2826)aCg>aTg	p.T942M	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	942	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTTTCCTCGTGACTGTCGT	0.423									Kartagener syndrome				27	42					0	0	0	0	A	13885256	G	A	13885256	3	1	308	1	0	0	0	0	1	0	0	0	4641	1145	40	1	11293	1	DNAH5	5	13885256	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	13692940	13885256	167030004	79	55052											
RANBP3L	202151	broad.mit.edu	37	chr5	36265071	36265071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttctcaccttattatttGttttttctttagtcttgcaa	6	23	4	8	0	3	0	1	0	3	0	4	0	3	0	1	0	1	3	1	0	4	10			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:36265071G>T	ENST00000296604.3	-	6	955	c.470C>A	c.(469-471)aCa>aAa	p.T157K	RANBP3L_ENST00000502994.1_Missense_Mutation_p.T182K|RANBP3L_ENST00000515759.1_Missense_Mutation_p.T157K	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	157					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CTTATTATTTGTTTTTTCTTT	0.418													36	63					1.36161e-19	1.42588e-19	1	0	T	36265071	G	T	36265071	3	4	308	1	0	0	0	0	1	0	0	0	13112	1377	48	4	963	4	RANBP3L	5	36265071	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	22379815	36265071	144650189	80	55053											
RASA1	5921	broad.mit.edu	37	chr5	86672284	86672284	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtttctgctcagctcccatAtaccattaaaaggtattgaa	12	13	7	9	0	2	1	1	1	1	0	3	1	3	1	2	2	3	4	2	2	6	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:86672284A>G	ENST00000456692.2	+	16	1670	c.1555A>G	c.(1555-1557)Ata>Gta	p.I519V	RASA1_ENST00000506290.1_Missense_Mutation_p.I530V|RASA1_ENST00000274376.6_Missense_Mutation_p.I696V|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Missense_Mutation_p.I529V	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	696	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CAGCTCCCATATACCATTAAA	0.423													6	24					0	0	0	0	G	86672284	A	G	86672284	3	3	308	1	0	0	0	0	1	0	0	0	13142	449	16	5	2160	5	RASA1	5	86672284	Missense_Mutation	SNP	A	TCGA-CV-7414-01A-11D-2078-08	50407213	86672284	94242976	81	55054											
TRIM36	55521	broad.mit.edu	37	chr5	114469606	114469606	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctgctgcaaggactacaGattgaacccttgtaagctct	10	12	8	11	0	2	2	0	1	2	1	3	3	2	3	1	1	5	4	1	1	4	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:114469606G>C	ENST00000513154.1	-	8	1775	c.1449C>G	c.(1447-1449)atC>atG	p.I483M	TRIM36_ENST00000514154.1_Missense_Mutation_p.I340M|TRIM36_ENST00000282369.3_Missense_Mutation_p.I495M			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	495	Fibronectin type-III.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AAGGACTACAGATTGAACCCT	0.388													7	38					0	0	0	0	C	114469606	G	C	114469606	3	2	308	1	0	0	0	0	1	0	0	0	16605	932	33	2	713	2	TRIM36	5	114469606	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	27797322	114469606	66445654	82	55055											
HSPA4	3308	broad.mit.edu	37	chr5	132427045	132427045	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagccaatggaaacagaTcagaatgcaaaggaggaaga	19	3	14	5	0	1	3	1	0	0	3	1	8	1	7	1	4	3	1	1	4	5	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:132427045T>C	ENST00000304858.2	+	12	1828	c.1539T>C	c.(1537-1539)gaT>gaC	p.D513D		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	513					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGAAACAGATCAGAATGCAA	0.438													15	28					0	0	0	0	C	132427045	T	C	132427045	2	2	308	1	0	0	0	0	0	0	0	1	7464	1432	50	5		5	HSPA4	5	132427045	Silent	SNP	T	TCGA-CV-7414-01A-11D-2078-08	17957439	132427045	48488215	83	55056											
PCDHB6	56130	broad.mit.edu	37	chr5	140531735	140531735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctgagcgagcgagacGcagccaagcacaggctggtg	9	4	17	11	3	0	2	0	1	0	1	0	4	0	2	1	3	5	5	1	3	1	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:140531735G>A	ENST00000231136.1	+	1	1897	c.1897G>A	c.(1897-1899)Gca>Aca	p.A633T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A497T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		633	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCGAGACGCAGCCAAGCA	0.677													9	26					0	0	0	0	A	140531735	G	A	140531735	3	1	308	1	0	0	0	0	1	0	0	0	11617	1087	38	1	1899	1	PCDHB6	5	140531735	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	8104690	140531735	40383525	84	55057											
ARHGAP26	23092	broad.mit.edu	37	chr5	142500686	142500686	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttcagaacattgtcattGagatcctaatagaaaaccac	17	11	5	8	0	2	3	2	1	0	3	3	4	3	3	2	0	2	0	2	0	6	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:142500686G>C	ENST00000378004.3	+	18	2027	c.1672G>C	c.(1672-1674)Gag>Cag	p.E558Q	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E558Q	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	558	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTGTCATTGAGATCCTAAT	0.443													10	35					0	0	0	0	C	142500686	G	C	142500686	3	2	308	1	0	0	0	0	1	0	0	0	877	1291	45	2	1742	2	ARHGAP26	5	142500686	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1968951	142500686	38414574	85	55058											
FBXO38	81545	broad.mit.edu	37	chr5	147807315	147807315	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgccttttcctttaggactCtgccacaaggggggtcttca	6	12	10	13	1	3	0	1	0	2	0	4	1	4	1	4	4	1	0	4	4	2	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:147807315C>G	ENST00000340253.5	+	15	2626	c.2458C>G	c.(2458-2460)Ctg>Gtg	p.L820V	FBXO38_ENST00000394370.3_Intron|FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000513826.1_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	820						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTAGGACTCTGCCACAAGG	0.577													13	4					0	0	0	0	G	147807315	C	G	147807315	3	3	308	1	0	0	0	0	1	0	0	0	5791	912	32	2	2512	2	FBXO38	5	147807315	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	5306629	147807315	33107945	86	55059											
FOXI1	2299	broad.mit.edu	37	chr5	169532981	169532981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagctccttcgacctgcCggcgccctccccacctcgct	4	8	8	21	4	0	1	0	1	0	0	4	2	2	1	7	1	2	2	7	1	0	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:169532981C>T	ENST00000449804.2	+	1	65	c.20C>T	c.(19-21)cCg>cTg	p.P7L	FOXI1_ENST00000306268.6_Missense_Mutation_p.P7L	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	7	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCGACCTGCCGGCGCCCTCC	0.697									Pendred syndrome				8	3					0	0	0	0	T	169532981	C	T	169532981	3	4	308	1	0	0	0	0	1	0	0	0	6056	652	23	1	22	1	FOXI1	5	169532981	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	21725666	169532981	11382279	87	55060											
HUS1B	135458	broad.mit.edu	37	chr6	656504	656504	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggaggcgcgcaggctgggCggcaggcagtcccgccacac	6	3	17	15	5	0	0	0	0	0	0	2	1	1	1	2	6	0	4	2	6	0	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:656504C>T	ENST00000380907.2	-	1	459	c.441G>A	c.(439-441)ccG>ccA	p.P147P	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	147										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GCAGGCTGGGCGGCAGGCAGT	0.716													15	24					0	0	0	0	T	656504	C	T	656504	2	4	308	1	0	0	0	0	0	0	0	1	7513	755	27	1		1	HUS1B	6	656504	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08		656504	170458563	88	55061											
DSP	1832	broad.mit.edu	37	chr6	7569532	7569532	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttccctctgtggggctgatCatccctcctccgaacccact	5	11	8	17	1	2	1	1	1	1	0	6	2	6	1	5	2	1	2	5	2	1	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:7569532C>T	ENST00000379802.3	+	12	1874	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	DSP_ENST00000418664.2_Silent_p.I511I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	511	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGGGGCTGATCATCCCTCCTC	0.577													21	45					0	0	0	0	T	7569532	C	T	7569532	2	4	308	1	0	0	0	0	0	0	0	1	4817	816	29	2		2	DSP	6	7569532	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	6913028	7569532	163545535	89	55062											
MRS2	57380	broad.mit.edu	37	chr6	24409763	24409763	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttcagcatgtaatgagtAtcacagtcagaaacaatagg	16	10	9	6	0	3	2	3	1	0	1	3	3	3	2	0	1	2	3	0	1	5	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:24409763A>G	ENST00000378386.3	+	4	469	c.376A>G	c.(376-378)Atc>Gtc	p.I126V	MRS2_ENST00000378353.1_Missense_Mutation_p.I126V|MRS2_ENST00000443868.2_Missense_Mutation_p.I126V|MRS2_ENST00000274747.7_Intron|MRS2_ENST00000535061.1_Intron|MRS2_ENST00000483634.1_Intron|MRS2_ENST00000543597.1_5'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	126					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TGTAATGAGTATCACAGTCAG	0.313													22	39					0	0	0	0	G	24409763	A	G	24409763	3	3	308	1	0	0	0	0	1	0	0	0	9921	449	16	5	390	5	MRS2	6	24409763	Missense_Mutation	SNP	A	TCGA-CV-7414-01A-11D-2078-08	16840231	24409763	146705304	90	55063											
FAM65B	9750	broad.mit.edu	37	chr6	24843781	24843781	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgtcatcaggtagatttGactatagataaaagatacct	16	12	8	5	0	2	5	2	1	0	4	2	5	2	5	1	1	1	1	1	1	6	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:24843781G>C	ENST00000259698.4	-	14	1404	c.1227_splice	c.e14-1	p.S410_splice	FAM65B_ENST00000378023.4_Splice_Site_p.S360_splice|FAM65B_ENST00000540914.1_Splice_Site_p.S360_splice|FAM65B_ENST00000538035.1_Splice_Site_p.S389_splice|FAM65B_ENST00000510784.2_Splice_Site_p.S394_splice	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	410					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AGGTAGATTTGACTATAGATA	0.413													3	17					0	0	0	0	C	24843781	G	C	24843781	5	2	308	1	0	0	0	0	0	0	1	0	5646	1304	45	2	2027	2	FAM65B	6	24843781	Splice_Site	SNP	G	TCGA-CV-7414-01A-11D-2078-08	434018	24843781	146271286	91	55064											
HIST1H4C	8364	broad.mit.edu	37	chr6	26104378	26104378	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttcttagagaacgttattcGagacgccgtcacctatacgg	10	12	9	10	5	2	2	1	0	1	2	3	4	2	2	2	1	2	1	2	1	5	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:26104378G>C	ENST00000377803.2	+	1	275	c.203G>C	c.(202-204)cGa>cCa	p.R68P		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	68					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.R68P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AACGTTATTCGAGACGCCGTC	0.527													9	29					0	0	0	0	C	26104378	G	C	26104378	3	2	308	1	0	0	0	0	1	0	0	0	7217	1058	37	3	205	3	HIST1H4C	6	26104378	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1260597	26104378	145010689	92	55065											
BRPF3	27154	broad.mit.edu	37	chr6	36193116	36193116	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctggtgtgggccaagtgccGaggctacccctcctaccctg	5	8	13	15	1	0	0	0	0	0	0	1	1	1	0	6	3	3	2	6	3	3	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:36193116G>C	ENST00000357641.6	+	11	3507	c.3254G>C	c.(3253-3255)cGa>cCa	p.R1085P	BRPF3_ENST00000534400.1_Intron|BRPF3_ENST00000443324.2_Missense_Mutation_p.R751P|BRPF3_ENST00000339717.7_Missense_Mutation_p.R815P|BRPF3_ENST00000543502.1_Missense_Mutation_p.R815P|BRPF3_ENST00000534694.1_Missense_Mutation_p.R751P	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1085	PWWP.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCCAAGTGCCGAGGCTACCCC	0.642													4	26					0	0	0	0	C	36193116	G	C	36193116	3	2	308	1	0	0	0	0	1	0	0	0	1529	1058	37	3	3292	3	BRPF3	6	36193116	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	10088738	36193116	134921951	93	55066											
KIF6	221458	broad.mit.edu	37	chr6	39311516	39311516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaatgctctgtctggccttGatgaaggcgatgatgtccga	9	11	13	8	2	2	4	0	3	2	1	3	6	3	4	2	2	1	1	2	2	2	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:39311516G>C	ENST00000287152.7	-	22	2491	c.2397C>G	c.(2395-2397)atC>atG	p.I799M	KIF6_ENST00000541946.1_Missense_Mutation_p.I250M|KIF6_ENST00000373213.4_Missense_Mutation_p.I638M|KIF6_ENST00000229913.5_Missense_Mutation_p.I250M|KIF6_ENST00000538893.1_Missense_Mutation_p.I743M|KIF6_ENST00000373216.3_Missense_Mutation_p.I782M|KIF6_ENST00000394362.1_Missense_Mutation_p.I233M|KIF6_ENST00000373215.3_Missense_Mutation_p.I782M	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	799					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTCTGGCCTTGATGAAGGCGA	0.582													15	35					0	0	0	0	C	39311516	G	C	39311516	3	2	308	1	0	0	0	0	1	0	0	0	8359	1280	45	2	55	2	KIF6	6	39311516	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	3118400	39311516	131803551	94	55067											
HSP90AB1	3326	broad.mit.edu	37	chr6	44216418	44216418	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtggagacttttgcctttCaggcagaaattgcccaactc	10	11	10	10	0	1	2	1	0	0	2	2	3	1	2	2	3	3	1	2	3	2	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:44216418C>G	ENST00000371554.1	+	2	266	c.52C>G	c.(52-54)Cag>Gag	p.Q18E	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.Q18E|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.Q18E			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	18					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	p.Q18*(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTTTGCCTTTCAGGCAGAAAT	0.423													15	115					0	0	0	0	G	44216418	C	G	44216418	3	3	308	1	0	0	0	0	1	0	0	0	7454	827	29	2	54	2	HSP90AB1	6	44216418	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	4904902	44216418	126898649	95	55068											
ELOVL5	60481	broad.mit.edu	37	chr6	53156755	53156755	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaaaccatccttttactCtagtatctgaaaaattaaaa	18	12	4	7	0	2	2	0	1	2	1	3	3	3	2	2	0	2	1	2	0	9	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:53156755C>G	ENST00000542638.1	-	3	512	c.65G>C	c.(64-66)aGa>aCa	p.R22T	ELOVL5_ENST00000370918.4_Missense_Mutation_p.R22T|ELOVL5_ENST00000304434.6_Missense_Mutation_p.R22T|ELOVL5_ENST00000541407.1_Missense_Mutation_p.R22T|ELOVL5_ENST00000486973.1_5'UTR			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	22					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TCCTTTTACTCTAGTATCTGa	0.279													30	26					0	0	0	0	G	53156755	C	G	53156755	3	3	308	1	0	0	0	0	1	0	0	0	5115	913	32	2	858	2	ELOVL5	6	53156755	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	8940337	53156755	117958312	96	55069											
DOPEY1	23033	broad.mit.edu	37	chr6	83863897	83863897	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaatccttatctctttcAgttggagagcaattatggac	10	16	8	7	0	2	1	1	0	1	1	4	3	3	2	1	2	1	3	1	2	4	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:83863897A>T	ENST00000349129.2	+	33	6649		c.e33-1		DOPEY1_ENST00000484282.1_Splice_Site|DOPEY1_ENST00000369739.3_Splice_Site|DOPEY1_ENST00000237163.5_Splice_Site	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1						protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TATCTCTTTCAGTTGGAGAGC	0.363													23	39					0	0	0	0	T	83863897	A	T	83863897	5	4	308	1	0	0	0	0	0	0	1	0	4743	202	7	5	6510	5	DOPEY1	6	83863897	Splice_Site	SNP	A	TCGA-CV-7414-01A-11D-2078-08	30707142	83863897	87251170	97	55070											
LAMA4	3910	broad.mit.edu	37	chr6	112430786	112430786	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgtggtgtcagtagagattCtgaaaagagcaagaaataaa	17	8	12	4	1	2	4	1	1	1	3	2	5	2	4	0	1	1	2	0	1	7	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:112430786C>G	ENST00000230538.7	-	39	5724		c.e39-1		LAMA4_ENST00000424408.2_Splice_Site|LAMA4_ENST00000389463.4_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGTAGAGATTCTGAAAAGAGC	0.418													15	19					0	0	0	0	G	112430786	C	G	112430786	5	3	308	1	0	0	0	0	0	0	1	0	8661	927	32	2	149	2	LAMA4	6	112430786	Splice_Site	SNP	C	TCGA-CV-7414-01A-11D-2078-08	28566889	112430786	58684281	98	55071											
TSPYL4	23270	broad.mit.edu	37	chr6	116574228	116574228	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccagaggatctgcgttcaTattccttgacaagcccctca	9	10	9	13	1	3	2	2	1	1	1	4	3	4	3	4	2	2	1	4	2	2	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:116574228T>C	ENST00000420283.1	-	1	1033	c.944A>G	c.(943-945)tAt>tGt	p.Y315C		NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	315					nucleosome assembly	nucleus				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		TCTGCGTTCATATTCCTTGAC	0.552													17	29					0	0	0	0	C	116574228	T	C	116574228	3	2	308	1	0	0	0	0	1	0	0	0	16756	1406	49	5	304	5	TSPYL4	6	116574228	Missense_Mutation	SNP	T	TCGA-CV-7414-01A-11D-2078-08	4143442	116574228	54540839	99	55072											
GRM1	2911	broad.mit.edu	37	chr6	146673517	146673517	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggccacgtgggcctctgcGatgccatgaagcccatcgac	7	7	12	15	3	1	1	0	1	1	0	2	3	1	1	4	2	3	0	4	2	1	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:146673517G>C	ENST00000392299.2	+	5	1788	c.1318G>C	c.(1318-1320)Gat>Cat	p.D440H	GRM1_ENST00000282753.1_Missense_Mutation_p.D440H|GRM1_ENST00000355289.4_Missense_Mutation_p.D440H|GRM1_ENST00000492807.2_Missense_Mutation_p.D440H|GRM1_ENST00000361719.2_Missense_Mutation_p.D440H|GRM1_ENST00000507907.1_Missense_Mutation_p.D440H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	440					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGGCCTCTGCGATGCCATGAA	0.547													9	90					0	0	0	0	C	146673517	G	C	146673517	3	2	308	1	0	0	0	0	1	0	0	0	6846	1058	37	3	1332	3	GRM1	6	146673517	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	30099289	146673517	24441550	100	55073											
PNLDC1	154197	broad.mit.edu	37	chr6	160222146	160222146	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgcctgtttgttcacagtCtttttgatttgccatcggag	6	17	10	8	1	2	1	1	1	1	0	3	3	2	2	2	1	2	2	2	1	0	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:160222146C>G	ENST00000275275.5	+	3	274	c.101_splice	c.e3-1	p.L35_splice	PNLDC1_ENST00000392167.3_Splice_Site_p.L46_splice	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	35						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGTTCACAGTCTTTTTGATTT	0.483													5	117					0	0	0	0	G	160222146	C	G	160222146	5	3	308	1	0	0	0	0	0	0	1	0	12220	927	32	2	109	2	PNLDC1	6	160222146	Splice_Site	SNP	C	TCGA-CV-7414-01A-11D-2078-08	13548629	160222146	10892921	101	55074											
MAP3K4	4216	broad.mit.edu	37	chr6	161469773	161469773	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttagaacaacagagcgtgatCgtaaaaaaaatgtacagtgc	18	8	9	6	2	0	3	0	1	0	2	1	3	0	3	0	0	5	2	0	0	8	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:161469773C>G	ENST00000392142.4	+	3	617	c.469C>G	c.(469-471)Cgt>Ggt	p.R157G	MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R157G|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R157G|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R157G	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	157			R -> H (in dbSNP:rs4559074).		activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGAGCGTGATCGTAAAAAAAA	0.403													7	75					0	0	0	0	G	161469773	C	G	161469773	3	3	308	1	0	0	0	0	1	0	0	0	9321	884	31	3	479	3	MAP3K4	6	161469773	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	1247627	161469773	9645294	102	55075											
DLL1	28514	broad.mit.edu	37	chr6	170592437	170592437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacccttgaggtcctgcaCgaggttatagtccaccgctg	7	10	11	13	2	1	1	1	1	0	0	3	2	3	1	4	2	1	3	4	2	2	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:170592437C>T	ENST00000366756.3	-	9	2263	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	644					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGGTCCTGCACGAGGTTATAG	0.627													28	57					0	0	0	0	T	170592437	C	T	170592437	3	4	308	1	0	0	0	0	1	0	0	0	4603	536	19	1	253	1	DLL1	6	170592437	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	9122664	170592437	522630	103	55076											
ETV1	2115	broad.mit.edu	37	chr7	14027742	14027742	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagccagatctctgttaatGaattttcttttcctgacatt	9	18	6	8	0	2	4	0	3	2	1	4	4	3	4	2	0	1	1	2	0	2	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:14027742G>A	ENST00000343495.5	-	4	840	c.102C>T	c.(100-102)ttC>ttT	p.F34F	ETV1_ENST00000430479.1_Silent_p.F34F|ETV1_ENST00000242066.5_Silent_p.F34F|ETV1_ENST00000403685.1_Silent_p.F34F|ETV1_ENST00000405218.2_Silent_p.F34F|ETV1_ENST00000405358.4_Silent_p.F48F|ETV1_ENST00000405192.2_Silent_p.F34F			P50549	ETV1_HUMAN	ets variant 1	34					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTCTGTTAATGAATTTTCTTT	0.378			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								4	36					0	0	0	0	A	14027742	G	A	14027742	2	1	308	1	0	0	0	0	0	0	0	1	5315	1281	45	2		2	ETV1	7	14027742	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08		14027742	145110921	104	55077											
DNAH11	8701	broad.mit.edu	37	chr7	21745088	21745088	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctctgcaggttgtccagcTtgaggaactgttggctgtgc	5	13	14	9	0	1	1	0	1	1	0	2	2	2	2	1	3	5	6	1	3	1	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:21745088T>G	ENST00000328843.6	+	40	6531	c.6500T>G	c.(6499-6501)cTt>cGt	p.L2167R	DNAH11_ENST00000409508.3_Missense_Mutation_p.L2160R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2167	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTTGTCCAGCTTGAGGAACTG	0.433									Kartagener syndrome				7	12					0	0	0	0	G	21745088	T	G	21745088	3	3	308	1	0	0	0	0	1	0	0	0	4636	1609	56	5	6655	5	DNAH11	7	21745088	Missense_Mutation	SNP	T	TCGA-CV-7414-01A-11D-2078-08	7717346	21745088	137393575	105	55078											
FZD9	8326	broad.mit.edu	37	chr7	72849813	72849813	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggccgcggggcccggAggccggagggactgctcgct	4	3	20	14	6	0	0	0	0	0	0	1	3	0	3	3	7	2	3	3	7	0	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:72849813A>G	ENST00000344575.3	+	1	1705	c.1476A>G	c.(1474-1476)ggA>ggG	p.G492G		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	492					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGGGGCCCGGAGGCCGGAGGG	0.652													4	40					0	0	0	0	G	72849813	A	G	72849813	2	3	308	1	0	0	0	0	0	0	0	1	6185	291	11	5		5	FZD9	7	72849813	Silent	SNP	A	TCGA-CV-7414-01A-11D-2078-08	51104725	72849813	86288850	106	55079											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73952488	73952488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagacaagggcagcatgtctGaagactgtgggccaggtgag	11	6	16	8	0	1	4	0	2	1	2	1	4	1	4	1	3	1	2	1	3	2	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:73952488G>A	ENST00000476977.1	+	12	3123	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E478K|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E510K|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.E478K			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	478						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGCATGTCTGAAGACTGTGG	0.642													5	65					0	0	0	0	A	73952488	G	A	73952488	3	1	308	1	0	0	0	0	1	0	0	0	6918	1291	45	2	1474	2	GTF2IRD1	7	73952488	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1102675	73952488	85186175	107	55080											
CACNA2D1	781	broad.mit.edu	37	chr7	81964507	81964507	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatatccctggctgcaatttCtaccagctggcgtgcattat	9	13	8	11	1	1	0	0	0	1	0	2	0	2	0	2	2	4	4	2	2	5	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:81964507C>G	ENST00000356860.3	-	3	576	c.238G>C	c.(238-240)Gaa>Caa	p.E80Q	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.E80Q|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.E80Q	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	80						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GCTGCAATTTCTACCAGCTGG	0.343													58	105					0	0	0	0	G	81964507	C	G	81964507	3	3	308	1	0	0	0	0	1	0	0	0	2573	922	32	2	3185	2	CACNA2D1	7	81964507	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	8012019	81964507	77174156	108	55081											
PCLO	27445	broad.mit.edu	37	chr7	82595320	82595320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagatttaagtaagtcatGtttctgttcttctggggctg	7	18	11	5	0	4	1	1	1	3	1	4	2	4	1	0	2	0	4	0	2	2	7			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:82595320G>A	ENST00000423517.2	-	4	4121	c.3784C>T	c.(3784-3786)Cat>Tat	p.H1262Y	PCLO_ENST00000333891.8_Missense_Mutation_p.H1262Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1201					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTAAGTCATGTTTCTGTTCT	0.418													74	96					0	0	0	0	A	82595320	G	A	82595320	3	1	308	1	0	0	0	0	1	0	0	0	11654	1377	48	4	11749	4	PCLO	7	82595320	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	630813	82595320	76543343	109	55082											
C7orf63	79846	broad.mit.edu	37	chr7	89929196	89929196	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaagttgaaccaaaaaaaaTtctgtaatctaatacttgga	19	12	5	5	0	2	1	0	1	2	0	2	2	2	2	1	1	2	2	1	1	10	7			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:89929196T>A	ENST00000389297.4	+	17	2124	c.1873T>A	c.(1873-1875)Ttc>Atc	p.F625I	C7orf63_ENST00000497910.1_Missense_Mutation_p.F607I|C7orf63_ENST00000316089.8_Missense_Mutation_p.F625I	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	625							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CCAAAAAAAATTCTGTAATCT	0.323													8	10					0	0	0	0	A	89929196	T	A	89929196	3	1	308	1	0	0	0	0	1	0	0	0	2432	1493	52	5	1939	5	C7orf63	7	89929196	Missense_Mutation	SNP	T	TCGA-CV-7414-01A-11D-2078-08	7333876	89929196	69209467	110	55083											
FAM133B	257415	broad.mit.edu	37	chr7	92195342	92195342	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttgctgttgctttttctcGttcttcactgcttttcttct	2	23	5	11	1	5	0	1	0	4	0	6	0	5	0	0	0	3	5	0	0	0	9			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:92195342G>A	ENST00000438306.1	-	11	843	c.613C>T	c.(613-615)Cga>Tga	p.R205*	FAM133B_ENST00000445716.1_Nonsense_Mutation_p.R215*|FAM133B_ENST00000427372.1_Nonsense_Mutation_p.R205*	NM_001040057.1	NP_001035146.1	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	215	Lys-rich.									endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCTTTTTCTCGTTCTTCACTG	0.323													11	16					0	0	0	0	A	92195342	G	A	92195342	4	1	308	1	0	0	0	0	0	1	0	0	5485	1153	40	1	108	1	FAM133B	7	92195342	Nonsense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	2266146	92195342	66943321	111	55084											
SPDYE3	441272	broad.mit.edu	37	chr7	99917593	99917593	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcactgggtgtgggcgcgaGatcgcgcccacctttcctag	6	8	14	13	4	0	1	0	0	0	1	2	2	1	1	3	2	1	1	3	2	1	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:99917593G>C	ENST00000332397.6	+	10	1814	c.1630G>C	c.(1630-1632)Gat>Cat	p.D544H	SPDYE3_ENST00000437326.2_Missense_Mutation_p.D167H	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	544								p.D544N(1)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTGGGCGCGAGATCGCGCCCA	0.582													9	59					0	0	0	0	C	99917593	G	C	99917593	3	2	308	1	0	0	0	0	1	0	0	0	15120	942	33	2	1668	2	SPDYE3	7	99917593	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	7722251	99917593	59221070	112	55085											
MUC17	140453	broad.mit.edu	37	chr7	100686712	100686712	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagctcccctcacatatgtGaccatgtctactgcccccag	8	9	7	17	0	2	1	1	1	1	0	3	1	3	1	5	0	3	2	5	0	2	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:100686712G>A	ENST00000306151.4	+	3	12079	c.12015G>A	c.(12013-12015)gtG>gtA	p.V4005V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4005						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCACATATGTGACCATGTCTA	0.488													11	318					0	0	0	0	A	100686712	G	A	100686712	2	1	308	1	0	0	0	0	0	0	0	1	10044	1277	45	2		2	MUC17	7	100686712	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	769119	100686712	58451951	113	55086											
MUC17	140453	broad.mit.edu	37	chr7	100686943	100686943	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaacctctgcctcctccacGactgtgaaccctgaggctgt	8	9	8	16	1	1	2	0	2	1	0	3	3	3	2	5	1	3	1	5	1	2	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:100686943G>A	ENST00000306151.4	+	3	12310	c.12246G>A	c.(12244-12246)acG>acA	p.T4082T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4082						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTCCTCCACGACTGTGAACC	0.572													40	280					0	0	0	0	A	100686943	G	A	100686943	2	1	308	1	0	0	0	0	0	0	0	1	10044	1045	37	1		1	MUC17	7	100686943	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	231	100686943	58451720	114	55087											
PLOD3	8985	broad.mit.edu	37	chr7	100855553	100855553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catggccatgtccctggcctCgcctgggctcagagcctcct	4	9	11	17	1	1	1	1	0	0	1	4	1	3	1	6	3	1	1	6	3	0	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:100855553C>T	ENST00000223127.3	-	10	1506	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	370					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TCCCTGGCCTCGCCTGGGCTC	0.667													23	165					0	0	0	0	T	100855553	C	T	100855553	3	4	308	1	0	0	0	0	1	0	0	0	12175	893	31	1	1148	1	PLOD3	7	100855553	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	168610	100855553	58283110	115	55088											
PLOD3	8985	broad.mit.edu	37	chr7	100859523	100859523	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactcgggccagcagaagctCtctgcagagaagagcaggcg	11	4	14	12	2	1	3	0	0	1	3	3	4	1	3	1	2	4	4	1	2	2	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:100859523C>G	ENST00000223127.3	-	4	821	c.423G>C	c.(421-423)gaG>gaC	p.E141D		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	141					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGCAGAAGCTCTCTGCAGAGA	0.637													17	97					0	0	0	0	G	100859523	C	G	100859523	3	3	308	1	0	0	0	0	1	0	0	0	12175	912	32	2	1857	2	PLOD3	7	100859523	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	3970	100859523	58279140	116	55089											
KIAA1549	57670	broad.mit.edu	37	chr7	138602191	138602191	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagacgcttcaacaaactcGagagaatcagaagggaagct	16	6	11	8	2	2	3	2	0	0	3	3	6	2	4	0	1	3	3	0	1	6	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:138602191G>A	ENST00000440172.1	-	2	2229	c.2181C>T	c.(2179-2181)ctC>ctT	p.L727L	KIAA1549_ENST00000422774.1_Silent_p.L727L|KIAA1549_ENST00000242365.4_Silent_p.L677L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	727	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAACAAACTCGAGAGAATCAG	0.468			O	BRAF	pilocytic astrocytoma								4	26					0	0	0	0	A	138602191	G	A	138602191	2	1	308	1	0	0	0	0	0	0	0	1	8295	1045	37	1		1	KIAA1549	7	138602191	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	37742668	138602191	20536472	117	55090											
ASH2L	9070	broad.mit.edu	37	chr8	37964677	37964677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggctgacacatttggcataGatacctcgtgagtacttttc	9	13	9	10	2	0	3	0	2	0	1	2	3	0	3	1	2	2	3	1	2	3	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:37964677G>C	ENST00000343823.6	+	3	703	c.394G>C	c.(394-396)Gat>Cat	p.D132H	ASH2L_ENST00000521652.1_Missense_Mutation_p.D38H|ASH2L_ENST00000545394.1_Intron|ASH2L_ENST00000250635.7_Missense_Mutation_p.D38H|ASH2L_ENST00000428278.2_Missense_Mutation_p.D38H	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	132					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ATTTGGCATAGATACCTCGTG	0.433													12	228					0	0	0	0	C	37964677	G	C	37964677	3	2	308	1	0	0	0	0	1	0	0	0	1046	942	33	2	404	2	ASH2L	8	37964677	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08		37964677	108399345	118	55091											
WHSC1L1	54904	broad.mit.edu	37	chr8	38172976	38172976	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcattccagtgcctcttctCgacaaacttgaatccatgga	10	12	6	13	1	3	1	1	1	2	0	6	3	5	2	3	1	2	0	3	1	2	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:38172976C>T	ENST00000317025.8	-	11	2590	c.2073G>A	c.(2071-2073)tcG>tcA	p.S691S	WHSC1L1_ENST00000527502.1_Silent_p.S691S|WHSC1L1_ENST00000433384.2_Silent_p.S691S	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	691					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCCTCTTCTCGACAAACTTG	0.428			T	NUP98	AML								29	271					0	0	0	0	T	38172976	C	T	38172976	2	4	308	1	0	0	0	0	0	0	0	1	17459	871	31	1		1	WHSC1L1	8	38172976	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	208299	38172976	108191046	119	55092											
CEBPD	1052	broad.mit.edu	37	chr8	48650425	48650425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgccttgtgattgctgttGaagaggtcggcgaagagctc	7	10	14	10	3	0	4	0	2	0	2	2	5	0	4	2	2	2	3	2	2	2	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:48650425G>A	ENST00000408965.3	-	1	1223	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_005195.3	NP_005186.2	P49716	CEBPD_HUMAN	CCAAT/enhancer binding protein (C/EBP), delta	86					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(86;0.0782)|Lung NSC(58;0.00363)|all_epithelial(80;0.0042)|all_lung(54;0.00914)				GATTGCTGTTGAAGAGGTCGG	0.716													5	5					0	0	0	0	A	48650425	G	A	48650425	2	1	308	1	0	0	0	0	0	0	0	1	3230	1281	45	2		2	CEBPD	8	48650425	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	10477449	48650425	97713597	120	55093											
PXDNL	137902	broad.mit.edu	37	chr8	52320812	52320812	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagccgcggagaagagcctCtgggtcagctcaggactgag	10	6	15	10	2	3	3	2	1	1	2	3	5	3	4	2	3	3	1	2	3	2	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:52320812C>G	ENST00000356297.4	-	17	3472	c.3372G>C	c.(3370-3372)caG>caC	p.Q1124H	PXDNL_ENST00000543296.1_Missense_Mutation_p.Q1124H	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1124					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGAAGAGCCTCTGGGTCAGCT	0.577													11	64					0	0	0	0	G	52320812	C	G	52320812	3	3	308	1	0	0	0	0	1	0	0	0	12930	912	32	2	1047	2	PXDNL	8	52320812	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	3670387	52320812	94043210	121	55094											
NSMAF	8439	broad.mit.edu	37	chr8	59511881	59511881	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgttcagacacataattgcTttccaatgcatctttgctct	9	16	6	10	0	3	1	1	0	2	1	4	1	4	1	1	0	3	4	1	0	2	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:59511881T>C	ENST00000038176.3	-	19	1707	c.1495A>G	c.(1495-1497)Agc>Ggc	p.S499G	NSMAF_ENST00000427130.2_Missense_Mutation_p.S530G	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	499	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ACATAATTGCTTTCCAATGCA	0.393													49	73					0	0	0	0	C	59511881	T	C	59511881	3	2	308	1	0	0	0	0	1	0	0	0	10745	1609	56	5	1310	5	NSMAF	8	59511881	Missense_Mutation	SNP	T	TCGA-CV-7414-01A-11D-2078-08	7191069	59511881	86852141	122	55095											
CSPP1	79848	broad.mit.edu	37	chr8	68071344	68071344	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttcagcactactgtgaaaGagacaatttgattggggaag	14	10	11	6	0	1	3	1	2	0	1	1	5	1	4	0	2	2	1	0	2	4	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:68071344G>C	ENST00000262210.5	+	19	2526	c.2495G>C	c.(2494-2496)aGa>aCa	p.R832T	CSPP1_ENST00000412460.1_Missense_Mutation_p.R487T|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	867	Glu-rich.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TACTGTGAAAGAGACAATTTG	0.353													8	107					0	0	0	0	C	68071344	G	C	68071344	3	2	308	1	0	0	0	0	1	0	0	0	3994	942	33	2	2682	2	CSPP1	8	68071344	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	8559463	68071344	78292678	123	55096											
FAM92A1	137392	broad.mit.edu	37	chr8	94740469	94740469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagaaaggatcaacaagcaGaagatgatgaggatgacgag	19	5	13	4	1	1	6	1	3	0	3	1	9	1	8	0	2	2	1	0	2	5	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:94740469G>A	ENST00000518322.1	+	9	955	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	FAM92A1_ENST00000520363.1_3'UTR|FAM92A1_ENST00000517718.1_Missense_Mutation_p.E117K|FAM92A1_ENST00000423990.2_Missense_Mutation_p.E234K	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	272										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCAACAAGCAGAAGATGATGA	0.289													5	46					0	0	0	0	A	94740469	G	A	94740469	3	1	308	1	0	0	0	0	1	0	0	0	5697	943	33	2	844	2	FAM92A1	8	94740469	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	26669125	94740469	51623553	124	55097											
KIAA1429	25962	broad.mit.edu	37	chr8	95550492	95550492	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctagcaggtacataccttcCcaacctatcgaaaacagggg	13	7	8	13	1	0	0	0	0	0	0	2	1	1	0	4	3	5	2	4	3	7	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:95550492C>G	ENST00000297591.5	-	3	337	c.262G>C	c.(262-264)Gga>Cga	p.G88R	KIAA1429_ENST00000437199.1_Missense_Mutation_p.G88R|KIAA1429_ENST00000421249.2_Missense_Mutation_p.G88R	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	88					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACATACCTTCCCAACCTATCG	0.368													21	38					0	0	0	0	G	95550492	C	G	95550492	3	3	308	1	0	0	0	0	1	0	0	0	8282	632	22	4	5318	4	KIAA1429	8	95550492	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	810023	95550492	50813530	125	55098											
MTDH	92140	broad.mit.edu	37	chr8	98735238	98735238	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatccaagtcaaataccaaGcaaaatagtgtgcctccttc	16	9	5	11	0	1	0	1	0	0	0	4	0	3	0	4	0	3	1	4	0	8	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:98735238G>C	ENST00000336273.3	+	11	1981	c.1653G>C	c.(1651-1653)aaG>aaC	p.K551N	MTDH_ENST00000519934.1_Missense_Mutation_p.K495N	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	551					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CAAATACCAAGCAAAATAGTG	0.373													32	95					0	0	0	0	C	98735238	G	C	98735238	3	2	308	1	0	0	0	0	1	0	0	0	9987	962	34	4	1695	4	MTDH	8	98735238	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	3184746	98735238	47628784	126	55099											
VPS13B	157680	broad.mit.edu	37	chr8	100847876	100847876	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactgcaagaccaaagacttActtccaagcctacttttgag	13	10	7	11	0	0	3	0	1	0	2	1	4	1	3	3	0	4	1	3	0	5	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:100847876A>G	ENST00000358544.2	+	54	10038	c.9927A>G	c.(9925-9927)ttA>ttG	p.L3309L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3284L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3309					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCAAAGACTTACTTCCAAGCC	0.428													21	48					0	0	0	0	G	100847876	A	G	100847876	2	3	308	1	0	0	0	0	0	0	0	1	17286	388	14	5		5	VPS13B	8	100847876	Silent	SNP	A	TCGA-CV-7414-01A-11D-2078-08	2112638	100847876	45516146	127	55100											
PABPC1	26986	broad.mit.edu	37	chr8	101733737	101733737	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgaacttctcgtagagcatCgcctcggtcacgtcggggtg	6	10	13	12	5	2	2	1	1	1	1	6	2	2	2	1	3	2	2	1	3	2	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:101733737C>G	ENST00000318607.5	-	1	1203	c.75G>C	c.(73-75)gcG>gcC	p.A25A	PABPC1_ENST00000519004.1_Intron|PABPC1_ENST00000522387.1_Silent_p.A25A	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	25	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CGTAGAGCATCGCCTCGGTCA	0.672													7	43					0	0	0	0	G	101733737	C	G	101733737	2	3	308	1	0	0	0	0	0	0	0	1	11434	871	31	3		3	PABPC1	8	101733737	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	885861	101733737	44630285	128	55101											
KLF10	7071	broad.mit.edu	37	chr8	103664280	103664280	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtcagaaggactgtaaggtgGagtcaaacactaaagaaaag	18	6	12	5	0	2	2	2	0	0	2	2	4	2	4	0	3	1	1	0	3	7	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:103664280G>C	ENST00000395884.3	-	3	1149	c.247C>G	c.(247-249)Cca>Gca	p.P83A	KLF10_ENST00000285407.6_Missense_Mutation_p.P94A	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	94					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CTGTAAGGTGGAGTCAAACAC	0.348											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	32					0	0	0	0	C	103664280	G	C	103664280	3	2	308	1	0	0	0	0	1	0	0	0	8390	1174	41	2	1170	2	KLF10	8	103664280	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1930543	103664280	42699742	129	55102											
CSMD3	114788	broad.mit.edu	37	chr8	114031357	114031357	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtaacaaaatgcagtctGagccagtttttgttgctgat	10	15	9	7	0	2	2	0	2	2	0	2	2	2	2	1	0	4	5	1	0	3	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:114031357G>A	ENST00000297405.5	-	6	1213	c.969C>T	c.(967-969)ctC>ctT	p.L323L	CSMD3_ENST00000343508.3_Silent_p.L283L|CSMD3_ENST00000455883.2_Silent_p.L323L|CSMD3_ENST00000352409.3_Silent_p.L323L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	323	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATGCAGTCTGAGCCAGTTTT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	115					0	0	0	0	A	114031357	G	A	114031357	2	1	308	1	0	0	0	0	0	0	0	1	3978	1277	45	2		2	CSMD3	8	114031357	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	10367077	114031357	32332665	130	55103											
ZC3H3	23144	broad.mit.edu	37	chr8	144621302	144621302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctgagggtcccgggggccGattcacgagggagtatttct	6	10	16	9	3	3	1	1	1	2	0	4	4	4	2	2	4	0	1	2	4	1	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:144621302G>A	ENST00000262577.5	-	2	266	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	79					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCCGGGGGCCGATTCACGAGG	0.672													62	46					0	0	0	0	A	144621302	G	A	144621302	3	1	308	1	0	0	0	0	1	0	0	0	17664	1057	37	1	2655	1	ZC3H3	8	144621302	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	30589945	144621302	1742720	131	55104											
ZNF251	90987	broad.mit.edu	37	chr8	145947498	145947498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccatgttttctgcacttaCgagtctctccgctgtgaact	7	14	8	12	2	2	1	0	1	2	0	4	3	3	1	2	0	3	3	2	0	2	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:145947498C>T	ENST00000292562.7	-	5	1822	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTGCACTTACGAGTCTCTCC	0.532													28	62					0	0	0	0	T	145947498	C	T	145947498	3	4	308	1	0	0	0	0	1	0	0	0	17891	536	19	1	472	1	ZNF251	8	145947498	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	1326196	145947498	416524	132	55105											
CDKN2A	1029	broad.mit.edu	37	chr9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacgggcagacggcccCaggcatcgcgcacgtccagc	7	3	14	17	5	0	1	0	0	0	1	3	1	2	1	4	4	1	3	4	4	0	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			26	7					0	0	0	0	T	21971029	C	T	21971029	4	4	308	1	0	0	0	0	0	1	0	0	3190	595	21	4	149	4	CDKN2A	9	21971029	Nonsense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08		21971029	119242402	133	55106											
GNAQ	2776	broad.mit.edu	37	chr9	80537224	80537224	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacccatggatgattctcatCtgcttgataaacgtactctt	10	14	7	10	1	3	2	1	2	3	0	4	4	3	3	1	1	3	2	1	1	3	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:80537224C>T	ENST00000286548.4	-	2	396	c.174G>A	c.(172-174)caG>caA	p.Q58Q		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	58					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						TGATTCTCATCTGCTTGATAA	0.463			Mis		uveal melanoma								66	82					0	0	0	0	T	80537224	C	T	80537224	2	4	308	1	0	0	0	0	0	0	0	1	6560	912	32	2		2	GNAQ	9	80537224	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	58566195	80537224	60676207	134	55107											
COL27A1	85301	broad.mit.edu	37	chr9	117015171	117015171	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggcagggtcatcctggaAtgccaggtggtatggggacc	7	9	16	9	0	1	0	1	0	0	0	2	2	2	2	3	7	1	2	3	7	2	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:117015171A>C	ENST00000356083.3	+	27	3491	c.3100A>C	c.(3100-3102)Atg>Ctg	p.M1034L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1034	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCATCCTGGAATGCCAGGTGG	0.567													21	31					0	0	0	0	C	117015171	A	C	117015171	3	2	308	1	0	0	0	0	1	0	0	0	3715	101	4	5	3206	5	COL27A1	9	117015171	Missense_Mutation	SNP	A	TCGA-CV-7414-01A-11D-2078-08	36477947	117015171	24198260	135	55108											
TNC	3371	broad.mit.edu	37	chr9	117797486	117797486	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatatacttaaaataccttGactgtgccatccactgattc	12	15	4	10	0	0	2	0	2	0	0	2	2	1	2	3	0	3	0	3	0	6	7			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:117797486G>C	ENST00000350763.4	-	22	6195	c.5784C>G	c.(5782-5784)gtC>gtG	p.V1928V	TNC_ENST00000423613.2_Silent_p.V1655V|TNC_ENST00000345230.3_Silent_p.V1291V|TNC_ENST00000346706.3_Silent_p.V1382V|TNC_ENST00000341037.4_Silent_p.V1746V|TNC_ENST00000542877.1_Silent_p.V1565V|TNC_ENST00000340094.3_Silent_p.V1564V|TNC_ENST00000537320.1_Silent_p.V1291V|TNC_ENST00000535648.1_Silent_p.V1473V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1928	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AAAATACCTTGACTGTGCCAT	0.468													8	73					0	0	0	0	C	117797486	G	C	117797486	2	2	308	1	0	0	0	0	0	0	0	1	16364	1277	45	2		2	TNC	9	117797486	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	782315	117797486	23415945	136	55109											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123169396	123169396	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccttgccagctgttccttGagcctgctctgcagagtgct	4	12	10	15	0	1	2	0	1	1	1	2	2	2	2	5	0	6	5	5	0	0	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:123169396G>C	ENST00000349780.4	-	32	5036	c.4857C>G	c.(4855-4857)ctC>ctG	p.L1619L	CDK5RAP2_ENST00000359309.3_Silent_p.L1578L|CDK5RAP2_ENST00000360822.3_Silent_p.L1587L|CDK5RAP2_ENST00000360190.4_Intron	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1619					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|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						GCTGTTCCTTGAGCCTGCTCT	0.592													18	56					0	0	0	0	C	123169396	G	C	123169396	2	2	308	1	0	0	0	0	0	0	0	1	3175	1277	45	2		2	CDK5RAP2	9	123169396	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	5371910	123169396	18044035	137	55110											
PTGS1	5742	broad.mit.edu	37	chr9	125154519	125154519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgtatggagacattgatgCgttggagttctaccctggac	9	13	12	7	1	1	2	0	1	1	1	1	5	1	4	1	3	2	3	1	3	2	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:125154519C>T	ENST00000362012.2	+	11	1501	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	PTGS1_ENST00000540753.1_Missense_Mutation_p.A437V|PTGS1_ENST00000373698.5_Missense_Mutation_p.A390V|PTGS1_ENST00000223423.4_Missense_Mutation_p.A462V	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	499					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GACATTGATGCGTTGGAGTTC	0.468													5	57					0	0	0	0	T	125154519	C	T	125154519	3	4	308	1	0	0	0	0	1	0	0	0	12835	768	27	1	1538	1	PTGS1	9	125154519	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	1985123	125154519	16058912	138	55111											
GOLGA2	2801	broad.mit.edu	37	chr9	131022404	131022404	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcagctcgcccagcttctttCccagctccctcttgacgtgc	4	11	8	18	2	2	1	0	1	2	0	5	1	4	1	3	0	4	4	3	0	0	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:131022404C>G	ENST00000421699.2	-	18	1754	c.1742G>C	c.(1741-1743)gGa>gCa	p.G581A		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	581						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CAGCTTCTTTCCCAGCTCCCT	0.612													7	124					0	0	0	0	G	131022404	C	G	131022404	3	3	308	1	0	0	0	0	1	0	0	0	6603	855	30	2	1302	2	GOLGA2	9	131022404	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	5867885	131022404	10191027	139	55112											
NUP188	23511	broad.mit.edu	37	chr9	131745290	131745290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcccatcacatctcgcatCtacatgctgctgcagcggtg	7	10	9	15	2	3	0	1	0	2	0	4	0	3	0	1	1	6	4	1	1	1	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:131745290C>G	ENST00000372577.2	+	17	1800	c.1779C>G	c.(1777-1779)atC>atG	p.I593M		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	593					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CATCTCGCATCTACATGCTGC	0.532													40	65					0	0	0	0	G	131745290	C	G	131745290	3	3	308	1	0	0	0	0	1	0	0	0	10829	903	32	2	1845	2	NUP188	9	131745290	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	722886	131745290	9468141	140	55113											
SETX	23064	broad.mit.edu	37	chr9	135204799	135204799	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcccctttctggaccatttCttgaagtacagtcctttggt	7	16	7	11	0	2	1	0	1	2	0	4	2	4	2	4	2	1	1	4	2	2	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:135204799C>G	ENST00000372169.2	-	10	2368	c.2186G>C	c.(2185-2187)aGa>aCa	p.R729T	SETX_ENST00000224140.5_Missense_Mutation_p.R729T|SETX_ENST00000393220.1_Missense_Mutation_p.R729T			Q7Z333	SETX_HUMAN	senataxin	729					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGGACCATTTCTTGAAGTACA	0.363													9	106					0	0	0	0	G	135204799	C	G	135204799	3	3	308	1	0	0	0	0	1	0	0	0	14228	913	32	2	5915	2	SETX	9	135204799	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	3459509	135204799	6008632	141	55114											
LARP4B	23185	broad.mit.edu	37	chr10	882344	882344	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagaaattacttactTccacgggggtagattcagat	13	10	11	7	1	1	4	1	0	0	4	2	5	2	4	1	3	2	1	1	3	4	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:882344T>A	ENST00000316157.3	-	7	789	c.750_splice	c.e7+1	p.E250_splice		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	250	RRM.						nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ATTACTTACTTCCACGGGGGT	0.363													15	33					0	0	0	0	A	882344	T	A	882344	5	1	308	1	0	0	0	0	0	0	1	0	8684	1797	62	5	1511	5	LARP4B	10	882344	Splice_Site	SNP	T	TCGA-CV-7414-01A-11D-2078-08		882344	134652403	142	55115											
SLC39A12	221074	broad.mit.edu	37	chr10	18276458	18276458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcacactgggctccatgCtggggacagcgctggtcctt	5	11	12	13	1	1	0	1	0	1	0	4	1	3	1	2	4	2	3	2	4	0	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:18276458C>T	ENST00000377369.2	+	7	1420	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	SLC39A12_ENST00000377371.3_Silent_p.L383L|SLC39A12_ENST00000539911.1_Silent_p.L249L|SLC39A12_ENST00000377374.4_Silent_p.L383L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	383					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGGCTCCATGCTGGGGACAGC	0.557													22	40					0	0	0	0	T	18276458	C	T	18276458	2	4	308	1	0	0	0	0	0	0	0	1	14703	796	28	4		4	SLC39A12	10	18276458	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	17394114	18276458	117258289	143	55116											
PDSS1	23590	broad.mit.edu	37	chr10	27035305	27035305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctcgcccagcagtactGccatgaagcaataagagaga	14	6	9	12	1	0	3	0	1	0	2	1	4	0	3	3	0	5	3	3	0	5	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:27035305G>A	ENST00000376215.5	+	12	1204	c.1151G>A	c.(1150-1152)tGc>tAc	p.C384Y	PDSS1_ENST00000376203.5_3'UTR|PDSS1_ENST00000470978.1_3'UTR	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	384					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CAGCAGTACTGCCATGAAGCA	0.423													6	49					0	0	0	0	A	27035305	G	A	27035305	3	1	308	1	0	0	0	0	1	0	0	0	11764	1319	46	4	1197	4	PDSS1	10	27035305	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	8758847	27035305	108499442	144	55117											
ZNF248	57209	broad.mit.edu	37	chr10	38121209	38121209	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gacttcttgctgaaattactCccattttcattgtaatcata	11	17	4	9	0	3	1	2	1	1	0	4	2	4	1	1	0	2	2	1	0	4	8			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:38121209C>G	ENST00000395867.3	-	6	1624	c.1074G>C	c.(1072-1074)ggG>ggC	p.G358G	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Silent_p.G358G|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TGAAATTACTCCCATTTTCAT	0.403													29	58					0	0	0	0	G	38121209	C	G	38121209	2	3	308	1	0	0	0	0	0	0	0	1	17888	842	30	2		2	ZNF248	10	38121209	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	11085904	38121209	97413538	145	55118											
HNRNPF	3185	broad.mit.edu	37	chr10	43882509	43882509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaactcactgtcgccgtatCtgtggtcatacattccggag	8	12	10	11	3	3	1	2	1	1	0	5	2	4	2	2	2	2	1	2	2	3	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:43882509C>T	ENST00000443950.2	-	3	1310	c.824G>A	c.(823-825)aGa>aAa	p.R275K	HNRNPF_ENST00000356053.3_Missense_Mutation_p.R275K|HNRNPF_ENST00000337970.3_Missense_Mutation_p.R275K|HNRNPF_ENST00000357065.4_Missense_Mutation_p.R275K|HNRNPF_ENST00000544000.1_Missense_Mutation_p.R275K	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	275					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GTCGCCGTATCTGTGGTCATA	0.562													16	11					0	0	0	0	T	43882509	C	T	43882509	3	4	308	1	0	0	0	0	1	0	0	0	7315	913	32	2	427	2	HNRNPF	10	43882509	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	5761300	43882509	91652238	146	55119											
TMEM72	643236	broad.mit.edu	37	chr10	45430193	45430193	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgaggtgctggcctccccaGagcagtacacagacccctct	8	6	10	17	1	1	2	0	0	1	2	2	3	2	2	6	2	3	3	6	2	1	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:45430193G>C	ENST00000544540.1	+	4	569	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	147						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						GGCCTCCCCAGAGCAGTACAC	0.612													7	83					0	0	0	0	C	45430193	G	C	45430193	3	2	308	1	0	0	0	0	1	0	0	0	16295	943	33	2	457	2	TMEM72	10	45430193	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1547684	45430193	90104554	147	55120											
OR13A1	79290	broad.mit.edu	37	chr10	45799279	45799279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcagcaggggagggacctCgcagaagaaatggataatga	16	4	15	6	1	0	3	0	1	0	2	1	6	0	6	1	4	2	3	1	4	4	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:45799279C>T	ENST00000553795.1	-	4	900	c.592G>A	c.(592-594)Gag>Aag	p.E198K	OR13A1_ENST00000374401.2_Missense_Mutation_p.E198K|OR13A1_ENST00000536058.1_Missense_Mutation_p.E198K	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GGAGGGACCTCGCAGAAGAAA	0.567													17	23					0	0	0	0	T	45799279	C	T	45799279	3	4	308	1	0	0	0	0	1	0	0	0	11004	893	31	1	398	1	OR13A1	10	45799279	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	369086	45799279	89735468	148	55121											
FAM21C	253725	broad.mit.edu	37	chr10	46250521	46250521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatgatggtgatgatgatGacgactttttctcggcaccc	9	13	11	8	2	1	6	0	6	1	0	2	7	1	6	1	2	0	1	1	2	0	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:46250521G>A	ENST00000336378.4	+	15	1496	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	FAM21C_ENST00000540872.1_Missense_Mutation_p.D460N|FAM21C_ENST00000359860.4_Missense_Mutation_p.D404N|FAM21C_ENST00000537517.1_Missense_Mutation_p.D436N|FAM21C_ENST00000374362.2_Missense_Mutation_p.D460N	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	460										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						tgatgatgatgacgaCTTTTT	0.498													10	13					0	0	0	0	A	46250521	G	A	46250521	3	1	308	1	0	0	0	0	1	0	0	0	5585	1290	45	2	1436	2	FAM21C	10	46250521	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	451242	46250521	89284226	149	55122											
LRRC18	474354	broad.mit.edu	37	chr10	50122006	50122006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aacttggagatggagtcaggGatcttcctgataagattccg	11	11	12	7	1	2	3	1	1	1	2	4	6	4	5	2	3	1	0	2	3	2	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:50122006G>C	ENST00000374160.3	-	1	271	c.195C>G	c.(193-195)atC>atG	p.I65M	WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.I65M	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	65						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TGGAGTCAGGGATCTTCCTGA	0.527													10	22					0	0	0	0	C	50122006	G	C	50122006	3	2	308	1	0	0	0	0	1	0	0	0	9038	1164	41	2	598	2	LRRC18	10	50122006	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	3871485	50122006	85412741	150	55123											
CDH23	64072	broad.mit.edu	37	chr10	73326583	73326583	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgtcctctactccttcCagcccccctcccaattcttc	5	11	4	21	1	2	0	0	0	2	0	7	0	6	0	7	0	3	1	7	0	2	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:73326583C>T	ENST00000224721.6	+	6	534	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	CDH23_ENST00000398809.4_Nonsense_Mutation_p.Q172*|CDH23_ENST00000299366.7_Nonsense_Mutation_p.Q217*|CDH23_ENST00000398842.3_Nonsense_Mutation_p.Q172*|CDH23_ENST00000461841.3_Nonsense_Mutation_p.Q217*	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	172	Cadherin 2.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTACTCCTTCCAGCCCCCCTC	0.612													3	42					0	0	0	0	T	73326583	C	T	73326583	4	4	308	1	0	0	0	0	0	1	0	0	3137	595	21	4	536	4	CDH23	10	73326583	Nonsense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	23204577	73326583	62208164	151	55124											
ATAD1	84896	broad.mit.edu	37	chr10	89536107	89536107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgatcagtatccaatccatCccagagactcataaactgag	14	9	7	11	0	2	3	2	2	0	1	5	4	5	3	3	0	1	1	3	0	4	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:89536107C>T	ENST00000308448.7	-	6	1039	c.661G>A	c.(661-663)Gat>Aat	p.D221N	ATAD1_ENST00000328142.3_Missense_Mutation_p.D221N|ATAD1_ENST00000400215.3_Missense_Mutation_p.D163N|ATAD1_ENST00000541004.1_Missense_Mutation_p.D221N	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	221						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		TCCAATCCATCCCAGAGACTC	0.403													41	31					0	0	0	0	T	89536107	C	T	89536107	3	4	308	1	0	0	0	0	1	0	0	0	1074	855	30	2	444	2	ATAD1	10	89536107	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	16209524	89536107	45998640	152	55125											
DNTT	1791	broad.mit.edu	37	chr10	98064368	98064368	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcaagatttggtcgtcttCattttggagaagaaaatggg	11	15	11	4	1	3	3	2	0	1	3	4	4	3	3	0	3	0	0	0	3	4	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:98064368C>T	ENST00000419175.1	+	1	284	c.114C>T	c.(112-114)ttC>ttT	p.F38F	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Silent_p.F38F	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	38	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGGTCGTCTTCATTTTGGAGA	0.542													13	12					0	0	0	0	T	98064368	C	T	98064368	2	4	308	1	0	0	0	0	0	0	0	1	4716	825	29	2		2	DNTT	10	98064368	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	8528261	98064368	37470379	153	55126											
SMC3	9126	broad.mit.edu	37	chr10	112360248	112360248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aattagaaggtattattactCgagtagagacttatctcaat	15	14	7	5	1	1	2	1	0	1	2	3	4	1	2	0	1	1	2	0	1	9	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:112360248C>G	ENST00000361804.4	+	22	2605	c.2479C>G	c.(2479-2481)Cga>Gga	p.R827G		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	827					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TATTATTACTCGAGTAGAGAC	0.328													4	86					0	0	0	0	G	112360248	C	G	112360248	3	3	308	1	0	0	0	0	1	0	0	0	14872	876	31	3	2565	3	SMC3	10	112360248	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	14295880	112360248	23174499	154	55127											
DOCK1	1793	broad.mit.edu	37	chr10	129224216	129224216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggccgttccacgagaggatgGaggcctgtttcaaacagctg	9	8	14	10	2	1	1	1	0	0	1	2	4	2	3	3	4	2	3	3	4	1	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:129224216G>C	ENST00000280333.6	+	47	4901	c.4792G>C	c.(4792-4794)Gag>Cag	p.E1598Q		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1598	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CGAGAGGATGGAGGCCTGTTT	0.507													27	93					0	0	0	0	C	129224216	G	C	129224216	3	2	308	1	0	0	0	0	1	0	0	0	4720	1175	41	2	4978	2	DOCK1	10	129224216	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	16863968	129224216	6310531	155	55128											
CYP2E1	1571	broad.mit.edu	37	chr10	135346344	135346344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caactgtccccgggacctcaCcgactgcctgctcgtggaaa	8	7	10	16	3	1	0	1	0	0	0	3	3	2	2	5	2	3	1	5	2	2	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:135346344C>G	ENST00000463117.2	+	7	1069	c.797C>G	c.(796-798)aCc>aGc	p.T266S	CYP2E1_ENST00000252945.3_Missense_Mutation_p.T266S|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	266					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CGGGACCTCACCGACTGCCTG	0.512									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				18	24					0	0	0	0	G	135346344	C	G	135346344	3	3	308	1	0	0	0	0	1	0	0	0	4202	507	18	4	815	4	CYP2E1	10	135346344	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	6122128	135346344	188403	156	55129											
SYCE1	93426	broad.mit.edu	37	chr10	135370596	135370596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtctctgtttgttcttctCttcttcaatctgcaagttca	5	20	5	11	0	7	0	2	0	5	0	9	0	7	0	0	0	1	4	0	0	2	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:135370596C>G	ENST00000368517.3	-	7	469	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	SYCE1_ENST00000432597.2_Missense_Mutation_p.E111Q|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.E147Q	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	147					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTGTTCTTCTCTTCTTCAATC	0.498													14	290					0	0	0	0	G	135370596	C	G	135370596	3	3	308	1	0	0	0	0	1	0	0	0	15518	922	32	2	687	2	SYCE1	10	135370596	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	24252	135370596	164151	157	55130											
ATHL1	80162	broad.mit.edu	37	chr11	294725	294725	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagccccaccgagtcactCactgtggaccctgcctctga	7	8	8	18	1	3	1	2	1	1	0	4	3	4	2	6	1	2	0	6	1	0	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:294725C>G	ENST00000409548.2	+	14	2305	c.2190C>G	c.(2188-2190)ctC>ctG	p.L730L	ATHL1_ENST00000409655.1_Silent_p.L482L|ATHL1_ENST00000409479.1_Silent_p.L757L	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	730					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCGAGTCACTCACTGTGGACC	0.627													11	178					0	0	0	0	G	294725	C	G	294725	2	3	308	1	0	0	0	0	0	0	0	1	1108	813	29	2		2	ATHL1	11	294725	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08		294725	134711791	158	55131											
SLC25A22	79751	broad.mit.edu	37	chr11	794488	794488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgaagtagccctcggagcGgacggtcttgatgaggcagt	8	7	16	10	4	1	2	0	2	1	0	2	5	1	4	2	4	2	2	2	4	2	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:794488G>A	ENST00000320230.5	-	4	653	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	SLC25A22_ENST00000531214.1_Missense_Mutation_p.R58C	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	58						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	CCCTCGGAGCGGACGGTCTTG	0.692													4	11					0	0	0	0	A	794488	G	A	794488	3	1	308	1	0	0	0	0	1	0	0	0	14573	1116	39	1	827	1	SLC25A22	11	794488	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	499763	794488	134212028	159	55132											
SYT8	90019	broad.mit.edu	37	chr11	1858629	1858629	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggccctgcagccccgcCttcgcctgcgcctgcccttg	1	9	11	20	3	0	0	0	0	0	0	1	0	0	0	7	1	5	2	7	1	0	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:1858629C>G	ENST00000341958.3	+	8	1434	c.1132C>G	c.(1132-1134)Ctt>Gtt	p.L378V	SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000381968.3_Missense_Mutation_p.L392V			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	392						acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAGCCCCGCCTTCGCCTGCG	0.726													9	7					0	0	0	0	G	1858629	C	G	1858629	3	3	308	1	0	0	0	0	1	0	0	0	15571	681	24	4	1208	4	SYT8	11	1858629	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	1064141	1858629	133147887	160	55133											
SYT9	143425	broad.mit.edu	37	chr11	7335110	7335110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggtggtggatcacttcCtagacttggctgatttcccc	7	13	11	10	0	1	2	1	1	0	1	3	3	3	3	3	4	0	1	3	4	2	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:7335110C>G	ENST00000318881.6	+	3	1219	c.982C>G	c.(982-984)Cta>Gta	p.L328V	SYT9_ENST00000396716.2_Missense_Mutation_p.L296V	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	328						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGATCACTTCCTAGACTTGGC	0.478													46	77					0	0	0	0	G	7335110	C	G	7335110	3	3	308	1	0	0	0	0	1	0	0	0	15572	680	24	4	992	4	SYT9	11	7335110	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	5476481	7335110	127671406	161	55134											
NRIP3	56675	broad.mit.edu	37	chr11	9007292	9007292	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagtccaggcggagggaGcccagtgtgatcactaggtg	8	6	18	9	1	1	1	1	1	0	0	2	3	2	3	2	5	1	1	2	5	1	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:9007292G>A	ENST00000309166.3	-	4	641	c.528C>T	c.(526-528)ggC>ggT	p.G176G	NRIP3_ENST00000531090.1_Intron	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	176					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		GGCGGAGGGAGCCCAGTGTGA	0.542													34	40					0	0	0	0	A	9007292	G	A	9007292	2	1	308	1	0	0	0	0	0	0	0	1	10725	958	34	4		4	NRIP3	11	9007292	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1672182	9007292	125999224	162	55135											
CSRP3	8048	broad.mit.edu	37	chr11	19209824	19209824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatgagccgcgactgtcGtgctgtcaagagccttcctg	7	10	11	13	3	2	2	2	1	0	1	4	3	3	2	3	0	3	1	3	0	1	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:19209824G>A	ENST00000533783.1	-	4	380	c.140C>T	c.(139-141)aCg>aTg	p.T47M	CSRP3_ENST00000265968.3_Missense_Mutation_p.T47M	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	47	LIM zinc-binding 1.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						CGCGACTGTCGTGCTGTCAAG	0.557													37	50					0	0	0	0	A	19209824	G	A	19209824	3	1	308	1	0	0	0	0	1	0	0	0	4001	1145	40	1	460	1	CSRP3	11	19209824	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	10202532	19209824	115796692	163	55136											
HARBI1	283254	broad.mit.edu	37	chr11	46625165	46625165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctcatactcctcttccGggggctgttccatgggtcct	3	14	11	13	1	2	0	1	0	1	0	6	0	6	0	4	3	2	3	4	3	1	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:46625165G>A	ENST00000326737.3	-	3	1212	c.965C>T	c.(964-966)cCg>cTg	p.P322L		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	322						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CTCCTCTTCCGGGGGCTGTTC	0.512													21	29					0	0	0	0	A	46625165	G	A	46625165	3	1	308	1	0	0	0	0	1	0	0	0	7008	1116	39	1	88	1	HARBI1	11	46625165	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	27415341	46625165	88381351	164	55137											
PTPRJ	5795	broad.mit.edu	37	chr11	48166647	48166647	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtccttcagtcgctactCagatgctgtttccttgcccc	4	15	8	14	1	2	1	2	0	0	1	5	1	4	1	4	0	3	3	4	0	1	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:48166647C>G	ENST00000418331.2	+	14	3234	c.2882C>G	c.(2881-2883)tCa>tGa	p.S961*		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	961					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGTCGCTACTCAGATGCTGTT	0.537													9	107					0	0	0	0	G	48166647	C	G	48166647	4	3	308	1	0	0	0	0	0	1	0	0	12886	838	29	2	2945	2	PTPRJ	11	48166647	Nonsense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	1541482	48166647	86839869	165	55138											
AHNAK	79026	broad.mit.edu	37	chr11	62297223	62297223	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtttcccctctggagcttCaagattcacatctggaacat	10	13	7	11	0	4	1	2	0	2	1	5	3	5	3	2	2	2	2	2	2	3	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:62297223C>G	ENST00000378024.4	-	5	4940	c.4666G>C	c.(4666-4668)Gaa>Caa	p.E1556Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1556					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGAGCTTCAAGATTCACA	0.458													54	109					0	0	0	0	G	62297223	C	G	62297223	3	3	308	1	0	0	0	0	1	0	0	0	414	835	29	2	13126	2	AHNAK	11	62297223	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	14130576	62297223	72709293	166	55139											
CATSPER1	117144	broad.mit.edu	37	chr11	65789074	65789074	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgaaggagtgggtctgcatCagcaagaagtccagcacggc	11	5	15	10	2	2	1	1	0	1	1	3	3	3	2	1	3	3	3	1	3	3	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:65789074C>G	ENST00000312106.5	-	4	1721	c.1584G>C	c.(1582-1584)ctG>ctC	p.L528L		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	528					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGGTCTGCATCAGCAAGAAGT	0.632													9	6					0	0	0	0	G	65789074	C	G	65789074	2	3	308	1	0	0	0	0	0	0	0	1	2712	813	29	2		2	CATSPER1	11	65789074	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	3491851	65789074	69217442	167	55140											
SUV420H1	51111	broad.mit.edu	37	chr11	67941319	67941319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattttgttctgatgagtatCtattacatggcaatatttca	11	18	6	6	0	3	2	1	2	2	0	3	2	3	2	0	1	1	3	0	1	5	8			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:67941319C>G	ENST00000304363.4	-	6	958	c.605G>C	c.(604-606)aGa>aCa	p.R202T	SUV420H1_ENST00000402185.2_Missense_Mutation_p.R179T|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R202T|SUV420H1_ENST00000405515.1_Missense_Mutation_p.R202T|SUV420H1_ENST00000402789.1_Missense_Mutation_p.R202T	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	202	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGATGAGTATCTATTACATGG	0.284													22	34					0	0	0	0	G	67941319	C	G	67941319	3	3	308	1	0	0	0	0	1	0	0	0	15504	913	32	2	2084	2	SUV420H1	11	67941319	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	2152245	67941319	67065197	168	55141											
C11orf24	53838	broad.mit.edu	37	chr11	68029521	68029521	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacatggcctccatctcaggGattgggctggtgtgaggtac	7	10	15	9	0	1	1	1	1	1	0	3	3	2	2	2	5	1	2	2	5	1	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:68029521G>A	ENST00000304271.6	-	4	1344	c.942C>T	c.(940-942)atC>atT	p.I314I	C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	314	Pro-rich.					integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						CCATCTCAGGGATTGGGCTGG	0.667													10	34					0	0	0	0	A	68029521	G	A	68029521	2	1	308	1	0	0	0	0	0	0	0	1	1646	1164	41	2		2	C11orf24	11	68029521	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	88202	68029521	66976995	169	55142											
AQP11	282679	broad.mit.edu	37	chr11	77301533	77301533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagtcgacttgctcaaaGcggtcatcacagaggccgtc	9	8	11	13	4	3	1	3	0	0	1	6	3	4	1	2	2	2	1	2	2	1	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:77301533G>A	ENST00000313578.3	+	1	854	c.496G>A	c.(496-498)Gcg>Acg	p.A166T	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	166						cell surface|integral to membrane	transporter activity			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CTTGCTCAAAGCGGTCATCAC	0.567													30	14					0	0	0	0	A	77301533	G	A	77301533	3	1	308	1	0	0	0	0	1	0	0	0	825	971	34	4	498	4	AQP11	11	77301533	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	9272012	77301533	57704983	170	55143											
CCDC90B	60492	broad.mit.edu	37	chr11	82985036	82985036	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctaattcaattttcattttCtaggtacaggaaagatcaca	14	15	5	7	0	5	1	3	0	2	1	5	2	5	2	0	2	1	1	0	2	5	8	rs11556842		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:82985036C>G	ENST00000529689.1	-	5	861		c.e5-1		CCDC90B_ENST00000529611.1_Splice_Site|CCDC90B_ENST00000455220.2_Splice_Site|CCDC90B_ENST00000525503.1_Splice_Site|CCDC90B_ENST00000529073.1_Splice_Site			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B							integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TTTTCATTTTCTAGGTACAGG	0.284													6	5					0	0	0	0	G	82985036	C	G	82985036	5	3	308	1	0	0	0	0	0	0	1	0	2896	927	32	2	358	2	CCDC90B	11	82985036	Splice_Site	SNP	C	TCGA-CV-7414-01A-11D-2078-08	5683503	82985036	52021480	171	55144											
OR10G8	219869	broad.mit.edu	37	chr11	123900988	123900988	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctgtcctatgtgtccaTcgtctgttccatcctgcgga	5	14	10	12	2	1	0	0	0	1	0	6	1	5	1	4	1	2	2	4	1	1	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:123900988T>C	ENST00000431524.1	+	1	692	c.659T>C	c.(658-660)aTc>aCc	p.I220T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TATGTGTCCATCGTCTGTTCC	0.542													29	11					0	0	0	0	C	123900988	T	C	123900988	3	2	308	1	0	0	0	0	1	0	0	0	10974	1435	50	5	661	5	OR10G8	11	123900988	Missense_Mutation	SNP	T	TCGA-CV-7414-01A-11D-2078-08	40915952	123900988	11105528	172	55145											
DCP1B	196513	broad.mit.edu	37	chr12	2061703	2061703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggccaaggctggccggttaGaggcatgcagctgctgctcc	6	7	15	13	2	0	1	0	0	0	1	1	1	1	1	3	5	4	7	3	5	2	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:2061703G>C	ENST00000280665.6	-	7	1482	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C	DCP1B_ENST00000397173.4_Missense_Mutation_p.S366C|DCP1B_ENST00000540622.1_Missense_Mutation_p.S342C	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	468					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TGGCCGGTTAGAGGCATGCAG	0.537													6	67					0	0	0	0	C	2061703	G	C	2061703	3	2	308	1	0	0	0	0	1	0	0	0	4331	942	33	2	462	2	DCP1B	12	2061703	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08		2061703	131790192	173	55146											
TAS2R46	259292	broad.mit.edu	37	chr12	11214516	11214516	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatcaccagaacaacactCttaactctcctctttaagtg	13	12	4	12	0	4	1	1	0	3	1	5	1	4	1	2	0	3	1	2	0	5	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:11214516C>T	ENST00000533467.1	-	1	377	c.378G>A	c.(376-378)aaG>aaA	p.K126K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	126					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GAACAACACTCTTAACTCTCC	0.348													33	59					0	0	0	0	T	11214516	C	T	11214516	2	4	308	1	0	0	0	0	0	0	0	1	15673	912	32	2		2	TAS2R46	12	11214516	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	9152813	11214516	122637379	174	55147											
GRIN2B	2904	broad.mit.edu	37	chr12	13764753	13764753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgatgagcagcatcacaaaCatcatcacccatacgtcagc	15	6	6	14	2	4	1	4	1	0	0	4	2	4	1	1	0	5	2	1	0	2	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:13764753C>T	ENST00000279593.3	-	8	1895	c.1686G>A	c.(1684-1686)atG>atA	p.M562I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	562					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCATCACAAACATCATCACCC	0.478													7	67					0	0	0	0	T	13764753	C	T	13764753	3	4	308	1	0	0	0	0	1	0	0	0	6830	478	17	4	2792	4	GRIN2B	12	13764753	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	2550237	13764753	120087142	175	55148											
SLC38A2	54407	broad.mit.edu	37	chr12	46760703	46760703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaaaggcaactcatatttCactatgaagaggtagcttga	15	10	8	8	0	2	3	2	2	0	1	2	3	2	3	1	2	2	3	1	2	6	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:46760703C>T	ENST00000256689.5	-	7	951	c.507G>A	c.(505-507)gtG>gtA	p.V169V	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	169					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ACTCATATTTCACTATGAAGA	0.388													14	37					0	0	0	0	T	46760703	C	T	46760703	2	4	308	1	0	0	0	0	0	0	0	1	14692	813	29	2		2	SLC38A2	12	46760703	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	32995950	46760703	87091192	176	55149											
GPD1	2819	broad.mit.edu	37	chr12	50500130	50500130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagtgattggggagcgcctCggcatccccatgagtgtgct	7	9	15	10	2	0	2	0	2	0	0	2	4	1	3	3	3	2	2	3	3	1	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:50500130C>T	ENST00000301149.3	+	4	652	c.420C>T	c.(418-420)ctC>ctT	p.L140L	GPD1_ENST00000548814.1_Silent_p.L117L|GPD1_ENST00000547190.1_3'UTR	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	140					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GGGAGCGCCTCGGCATCCCCA	0.617													11	10					0	0	0	0	T	50500130	C	T	50500130	2	4	308	1	0	0	0	0	0	0	0	1	6653	871	31	1		1	GPD1	12	50500130	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	3739427	50500130	83351765	177	55150											
TARBP2	6895	broad.mit.edu	37	chr12	53899914	53899914	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctgcagtacctcaagatCatggcaggcagcaagtgaag	12	6	12	11	0	2	2	2	1	0	1	2	2	2	2	2	2	3	5	2	2	4	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:53899914C>T	ENST00000266987.2	+	9	1566	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	TARBP2_ENST00000552857.1_3'UTR|TARBP2_ENST00000456234.2_Silent_p.I340I|TARBP2_ENST00000394357.2_Silent_p.I340I	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	361	DRBM 3.|Sufficient for interaction with DICER1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						ACCTCAAGATCATGGCAGGCA	0.617													7	21					0	0	0	0	T	53899914	C	T	53899914	2	4	308	1	0	0	0	0	0	0	0	1	15647	816	29	2		2	TARBP2	12	53899914	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	3399784	53899914	79951981	178	55151											
HOXC13	3229	broad.mit.edu	37	chr12	54332775	54332775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggcggagagcggcatcGgcggcggcggcggaggagga	6	1	24	10	9	0	1	0	0	0	1	1	5	0	4	0	10	1	1	0	10	0	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:54332775G>A	ENST00000243056.3	+	1	241	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	29	Gly-rich.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						gagcggcatcggcggcggcgg	0.697			T	NUP98	AML								5	5					0	0	0	0	A	54332775	G	A	54332775	3	1	308	1	0	0	0	0	1	0	0	0	7362	1116	39	1	87	1	HOXC13	12	54332775	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	432861	54332775	79519120	179	55152											
MYO1A	4640	broad.mit.edu	37	chr12	57430774	57430774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatctgactctttcgcatCagttggtagtgggtgcggca	7	12	14	8	2	3	1	1	1	2	0	4	2	3	2	0	4	1	4	0	4	1	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:57430774C>T	ENST00000442789.2	-	21	2444	c.2157G>A	c.(2155-2157)ctG>ctA	p.L719L	MYO1A_ENST00000300119.3_Silent_p.L719L|MYO1A_ENST00000544473.1_Silent_p.L557L	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	719	IQ 1.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCTTTCGCATCAGTTGGTAGT	0.522													37	64					0	0	0	0	T	57430774	C	T	57430774	2	4	308	1	0	0	0	0	0	0	0	1	10138	813	29	2		2	MYO1A	12	57430774	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	3097999	57430774	76421121	180	55153											
CRADD	8738	broad.mit.edu	37	chr12	94244018	94244018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcgggctgtggaggtggacCcctcgctgctcctgcacatg	4	9	15	13	2	0	0	0	0	0	0	2	2	1	2	3	4	3	4	3	4	0	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:94244018C>T	ENST00000542893.2	+	3	889	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000332896.3_Missense_Mutation_p.P191S			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	191					apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GGAGGTGGACCCCTCGCTGCT	0.632													11	26					0	0	0	0	T	94244018	C	T	94244018	3	4	308	1	0	0	0	0	1	0	0	0	3875	623	22	4	577	4	CRADD	12	94244018	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	36813244	94244018	39607877	181	55154											
CCDC63	160762	broad.mit.edu	37	chr12	111318961	111318961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgccatgaaagaccgccaGaagaaggacacctctcagta	14	5	10	12	1	1	4	1	1	1	3	2	5	1	5	4	1	1	2	4	1	4	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:111318961G>A	ENST00000308208.5	+	7	956	c.714G>A	c.(712-714)caG>caA	p.Q238Q	CCDC63_ENST00000552694.1_Silent_p.Q159Q|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Silent_p.Q198Q	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	238										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AAGACCGCCAGAAGAAGGACA	0.557													3	21					0	0	0	0	A	111318961	G	A	111318961	2	1	308	1	0	0	0	0	0	0	0	1	2861	933	33	2		2	CCDC63	12	111318961	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	17074943	111318961	22532934	182	55155											
KSR2	283455	broad.mit.edu	37	chr12	117968797	117968797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggcgcccgggtcggcGtctccggcaccggcaccaca	4	4	15	18	6	1	0	0	0	1	0	3	0	1	0	5	6	0	2	5	6	0	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:117968797G>A	ENST00000425217.1	-	12	1718	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	KSR2_ENST00000302438.5_Missense_Mutation_p.T281M|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.T584M	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	584					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGGGTCGGCGTCTCCGGCAC	0.562													45	72					0	0	0	0	A	117968797	G	A	117968797	3	1	308	1	0	0	0	0	1	0	0	0	8635	1145	40	1	1137	1	KSR2	12	117968797	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	6649836	117968797	15883098	183	55156											
SRRM4	84530	broad.mit.edu	37	chr12	119568510	119568510	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccggtcccctgaggaaggGcagaagtcccgccgaaggca	9	3	16	13	3	0	2	0	1	0	1	2	4	2	3	5	5	0	2	5	5	3	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:119568510G>A	ENST00000267260.4	+	8	1030	c.642G>A	c.(640-642)ggG>ggA	p.G214G	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	214	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTGAGGAAGGGCAGAAGTCCC	0.652													5	4					0	0	0	0	A	119568510	G	A	119568510	2	1	308	1	0	0	0	0	0	0	0	1	15261	1190	42	4		4	SRRM4	12	119568510	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1599713	119568510	14283385	184	55157											
UBC	7316	broad.mit.edu	37	chr12	125397967	125397967	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccggcaaagatcaacctCtgctggtcaggaggaatgcc	10	9	11	11	1	3	1	2	0	1	1	4	3	4	3	3	4	3	2	3	4	3	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:125397967C>G	ENST00000536769.1	-	1	1927	c.351G>C	c.(349-351)caG>caC	p.Q117H	UBC_ENST00000339647.5_Missense_Mutation_p.Q117H|UBC_ENST00000538617.1_Missense_Mutation_p.Q117H|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	117	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.G111fs*15(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGATCAACCTCTGCTGGTCAG	0.547													60	112					0	0	0	0	G	125397967	C	G	125397967	3	3	308	1	0	0	0	0	1	0	0	0	16938	912	32	2	1710	2	UBC	12	125397967	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	5829457	125397967	8453928	185	55158											
USPL1	10208	broad.mit.edu	37	chr13	31233392	31233392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagagtccgatgaagactGatattttcgatgagtttttt	10	16	11	4	2	0	5	0	3	0	2	2	8	1	5	1	1	0	1	1	1	2	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr13:31233392G>C	ENST00000255304.4	+	9	3520	c.3178G>C	c.(3178-3180)Gat>Cat	p.D1060H		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1060					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GATGAAGACTGATATTTTCGA	0.378													7	56					0	0	0	0	C	31233392	G	C	31233392	3	2	308	1	0	0	0	0	1	0	0	0	17188	1290	45	2	3208	2	USPL1	13	31233392	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08		31233392	83936486	186	55159											
COG3	83548	broad.mit.edu	37	chr13	46092895	46092895	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagtaattttgtttcacAgatgcagcatttaaaatcct	13	15	7	6	0	1	2	1	1	0	1	2	3	2	2	1	0	2	4	1	0	3	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr13:46092895A>G	ENST00000349995.5	+	18	2042		c.e18-1			NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3						ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TTTGTTTCACAGATGCAGCAT	0.398													6	56					0	0	0	0	G	46092895	A	G	46092895	5	3	308	1	0	0	0	0	0	0	1	0	3689	202	7	5	1999	5	COG3	13	46092895	Splice_Site	SNP	A	TCGA-CV-7414-01A-11D-2078-08	14859503	46092895	69076983	187	55160											
LCP1	3936	broad.mit.edu	37	chr13	46732751	46732751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgattgcttttctaaaggtCttggcaacatctgtgctttt	7	19	8	7	0	3	1	0	1	3	0	3	1	3	1	0	2	3	3	0	2	3	8			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr13:46732751C>G	ENST00000398576.2	-	7	652	c.264G>C	c.(262-264)aaG>aaC	p.K88N	LCP1_ENST00000323076.2_Missense_Mutation_p.K88N			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	88					regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TTCTAAAGGTCTTGGCAACAT	0.398			T	BCL6	NHL								13	38					0	0	0	0	G	46732751	C	G	46732751	3	3	308	1	0	0	0	0	1	0	0	0	8744	912	32	2	1671	2	LCP1	13	46732751	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	639856	46732751	68437127	188	55161											
ARHGEF7	8874	broad.mit.edu	37	chr13	111919901	111919901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcatttctccaggttgccCgaagctcagcagagagtcgg	8	9	12	12	3	2	1	1	0	1	1	5	3	2	1	2	2	3	4	2	2	1	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr13:111919901C>G	ENST00000544132.1	+	8	791	c.127C>G	c.(127-129)Cga>Gga	p.R43G	ARHGEF7_ENST00000375723.1_Silent_p.P162P|ARHGEF7_ENST00000375736.4_Silent_p.P162P|ARHGEF7_ENST00000478679.1_Silent_p.P84P|ARHGEF7_ENST00000426073.2_Silent_p.P162P|ARHGEF7_ENST00000375739.2_Silent_p.P290P|ARHGEF7_ENST00000218789.5_Silent_p.P162P|ARHGEF7_ENST00000375741.2_Silent_p.P340P|ARHGEF7_ENST00000375737.5_Silent_p.P237P|ARHGEF7_ENST00000370623.3_Silent_p.P247P|ARHGEF7_ENST00000317133.5_Silent_p.P319P|ARHGEF7_ENST00000483189.1_3'UTR			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	0	CH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.P162P(1)|p.P319P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CCAGGTTGCCCGAAGCTCAGC	0.453													33	130					0	0	0	0	G	111919901	C	G	111919901	3	3	308	1	0	0	0	0	1	0	0	0	913	639	23	3	1058	3	ARHGEF7	13	111919901	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	65187150	111919901	3249977	189	55162											
ATP11A	23250	broad.mit.edu	37	chr13	113481013	113481013	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctgctcttgcagttcctCaaggcattcacggacttcct	6	14	7	14	1	4	0	2	0	2	0	6	1	6	1	2	2	2	4	2	2	1	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr13:113481013C>G	ENST00000487903.1	+	12	1117	c.1029C>G	c.(1027-1029)ctC>ctG	p.L343L	ATP11A_ENST00000375630.2_Silent_p.L343L|ATP11A_ENST00000375645.3_Silent_p.L343L|ATP11A_ENST00000283558.8_Silent_p.L343L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	343					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGCAGTTCCTCAAGGCATTCA	0.537													19	89					0	0	0	0	G	113481013	C	G	113481013	2	3	308	1	0	0	0	0	0	0	0	1	1123	813	29	2		2	ATP11A	13	113481013	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	1561112	113481013	1688865	190	55163											
RNASE10	338879	broad.mit.edu	37	chr14	20978796	20978796	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggacaaagctgaggccActgaggagggagacggcacc	13	2	15	11	1	0	3	0	2	0	1	0	6	0	5	2	5	1	2	2	5	1	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:20978796A>T	ENST00000430083.1	+	2	654	c.250A>T	c.(250-252)Act>Tct	p.T84S	RNASE10_ENST00000328444.5_Missense_Mutation_p.T56S			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	56						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		AGCTGAGGCCACTGAGGAGGG	0.537													24	33					0	0	0	0	T	20978796	A	T	20978796	3	4	308	1	0	0	0	0	1	0	0	0	13485	159	6	5	168	5	RNASE10	14	20978796	Missense_Mutation	SNP	A	TCGA-CV-7414-01A-11D-2078-08		20978796	86370744	191	55164											
MMP14	4323	broad.mit.edu	37	chr14	23310776	23310776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgctcaccccagtcactctCagcggccatcgctgccatgc	6	7	9	19	3	3	0	3	0	1	0	5	0	3	0	4	1	3	2	4	1	0	0	rs139231227		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:23310776C>T	ENST00000311852.6	+	2	446	c.185C>T	c.(184-186)tCa>tTa	p.S62L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	62						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CAGTCACTCTCAGCGGCCATC	0.557													3	20					0	0	0	0	T	23310776	C	T	23310776	3	4	308	1	0	0	0	0	1	0	0	0	9722	838	29	2	191	2	MMP14	14	23310776	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	2331980	23310776	84038764	192	55165											
FOXG1	2290	broad.mit.edu	37	chr14	29237831	29237831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgtcgccgcaggccccctCgaccctgccctgtgagtctt	4	8	10	19	4	1	1	0	1	1	0	3	2	1	1	5	1	1	1	5	1	0	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:29237831C>T	ENST00000382535.3	+	2	1715	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	FOXG1_ENST00000313071.4_Missense_Mutation_p.S449L			P55316	FOXG1_HUMAN	forkhead box G1	449				QAPST -> AGPPRP (in Ref. 1; CAA52240 and 2; CAA55038).|ST -> RP (in Ref. 1; CAA52239).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CAGGCCCCCTCGACCCTGCCC	0.582													22	37					0	0	0	0	T	29237831	C	T	29237831	3	4	308	1	0	0	0	0	1	0	0	0	6054	893	31	1	1348	1	FOXG1	14	29237831	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	5927055	29237831	78111709	193	55166											
ARHGAP5	394	broad.mit.edu	37	chr14	32560615	32560615	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactggtacaaatgttggAtaaaactcgtagcaagccta	14	10	9	8	1	0	0	0	0	0	0	1	1	0	1	1	2	5	5	1	2	7	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:32560615A>G	ENST00000345122.3	+	2	1055	c.740A>G	c.(739-741)gAt>gGt	p.D247G	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.D247G|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.D247G|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.D247G|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	247					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAAATGTTGGATAAAACTCGT	0.343													55	92					0	0	0	0	G	32560615	A	G	32560615	3	3	308	1	0	0	0	0	1	0	0	0	888	333	12	5	742	5	ARHGAP5	14	32560615	Missense_Mutation	SNP	A	TCGA-CV-7414-01A-11D-2078-08	3322784	32560615	74788925	194	55167											
AKAP6	9472	broad.mit.edu	37	chr14	33004796	33004796	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctgatcatgttgagcaaAtccatgccctccttgaaaca	11	13	6	11	0	2	3	1	3	1	0	4	3	4	3	3	0	3	2	3	0	2	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:33004796A>G	ENST00000280979.4	+	3	531	c.361A>G	c.(361-363)Atc>Gtc	p.I121V	AKAP6_ENST00000557354.1_Missense_Mutation_p.I121V|AKAP6_ENST00000557272.1_Missense_Mutation_p.I121V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	121					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)		TGTTGAGCAAATCCATGCCCT	0.473													30	63					0	0	0	0	G	33004796	A	G	33004796	3	3	308	1	0	0	0	0	1	0	0	0	455	101	4	5	367	5	AKAP6	14	33004796	Missense_Mutation	SNP	A	TCGA-CV-7414-01A-11D-2078-08	444181	33004796	74344744	195	55168											
RALGAPA1	253959	broad.mit.edu	37	chr14	36103865	36103865	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagactttccaaatgcatAaaaggatcataatctacaga	17	11	5	8	0	3	2	2	0	1	2	4	3	4	3	1	1	2	1	1	1	5	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:36103865A>G	ENST00000258840.6	-	33	4923	c.4533T>C	c.(4531-4533)ttT>ttC	p.F1511F	RALGAPA1_ENST00000389698.3_Silent_p.F1464F|RALGAPA1_ENST00000307138.6_Silent_p.F1464F|RALGAPA1_ENST00000382366.3_Silent_p.F1477F			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1464	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCAAATGCATAAAAGGATCAT	0.423													16	35					0	0	0	0	G	36103865	A	G	36103865	2	3	308	1	0	0	0	0	0	0	0	1	13095	359	13	5		5	RALGAPA1	14	36103865	Silent	SNP	A	TCGA-CV-7414-01A-11D-2078-08	3099069	36103865	71245675	196	55169											
FRMD6	122786	broad.mit.edu	37	chr14	52156612	52156612	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccgccgcagtgtgtgcAttttccttcccaacgatgaa	10	10	9	12	3	0	2	0	1	0	1	2	3	2	2	4	0	2	2	4	0	3	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:52156612A>G	ENST00000395718.2	+	2	343	c.58A>G	c.(58-60)Att>Gtt	p.I20V	FRMD6_ENST00000344768.5_Missense_Mutation_p.I20V|FRMD6_ENST00000356218.4_Missense_Mutation_p.I20V	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	20	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CAGTGTGTGCATTTTCCTTCC	0.433													23	21					0	0	0	0	G	52156612	A	G	52156612	3	3	308	1	0	0	0	0	1	0	0	0	6102	217	8	5	60	5	FRMD6	14	52156612	Missense_Mutation	SNP	A	TCGA-CV-7414-01A-11D-2078-08	16052747	52156612	55192928	197	55170											
NID2	22795	broad.mit.edu	37	chr14	52534779	52534779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggctcgtgtcgatgtccgCcagaaaaggggcgatggccg	7	7	17	10	5	0	1	0	0	0	1	3	3	1	1	3	4	0	1	3	4	2	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:52534779C>A	ENST00000216286.5	-	2	330	c.331G>T	c.(331-333)Gcg>Tcg	p.A111S	NID2_ENST00000541773.1_Missense_Mutation_p.A58S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	111	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCGATGTCCGCCAGAAAAGGG	0.642													3	8					0.115264	0.11559	1	0	A	52534779	C	A	52534779	3	1	308	1	0	0	0	0	1	0	0	0	10485	739	26	4	3880	4	NID2	14	52534779	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	378167	52534779	54814761	198	55171											
PTGDR	5729	broad.mit.edu	37	chr14	52741596	52741596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcagatctccagtatttCggatattttttcacaagatt	10	19	5	7	1	3	2	2	0	1	2	5	3	3	3	1	1	0	1	1	1	3	9			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:52741596C>T	ENST00000306051.2	+	2	1096	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	PTGDR_ENST00000553372.1_3'UTR	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	332			R -> Q (in dbSNP:rs41312506).			integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TCCAGTATTTCGGATATTTTT	0.413													11	13					0	0	0	0	T	52741596	C	T	52741596	3	4	308	1	0	0	0	0	1	0	0	0	12820	875	31	1	1000	1	PTGDR	14	52741596	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	206817	52741596	54607944	199	55172											
RTN1	6252	broad.mit.edu	37	chr14	60072193	60072193	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacttctgaatctgctcctGagaaagggtgatctcaagct	10	12	10	9	0	3	3	1	3	3	1	5	4	4	3	1	1	3	3	1	1	4	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:60072193G>A	ENST00000267484.5	-	5	2340	c.2005C>T	c.(2005-2007)Cag>Tag	p.Q669*	RTN1_ENST00000395090.1_Nonsense_Mutation_p.Q86*|RTN1_ENST00000557422.1_Intron|RTN1_ENST00000342503.4_Nonsense_Mutation_p.Q101*	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	669	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ATCTGCTCCTGAGAAAGGGTG	0.517													13	35					0	0	0	0	A	60072193	G	A	60072193	4	1	308	1	0	0	0	0	0	1	0	0	13810	1299	45	2	345	2	RTN1	14	60072193	Nonsense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	7330597	60072193	47277347	200	55173											
ZBTB1	22890	broad.mit.edu	37	chr14	64988268	64988268	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccttcagcagctaaacAaccaaagagaatggggtttt	14	10	9	8	0	1	1	1	0	0	1	2	2	2	1	2	2	4	3	2	2	5	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:64988268A>T	ENST00000358738.3	+	2	437	c.46A>T	c.(46-48)Aac>Tac	p.N16Y	ZBTB1_ENST00000554015.1_Missense_Mutation_p.N16Y|ZBTB1_ENST00000394712.2_Missense_Mutation_p.N16Y|RP11-973N13.4_ENST00000554918.1_RNA	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GCAGCTAAACAACCAAAGAGA	0.393													26	42					0	0	0	0	T	64988268	A	T	64988268	3	4	308	1	0	0	0	0	1	0	0	0	17617	130	5	5	48	5	ZBTB1	14	64988268	Missense_Mutation	SNP	A	TCGA-CV-7414-01A-11D-2078-08	4916075	64988268	42361272	201	55174											
RDH11	51109	broad.mit.edu	37	chr14	68151825	68151825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaggagtcttgatgaaaaagGagaaaagccaccacatccat	17	6	10	8	0	1	3	0	2	1	1	2	6	2	4	3	2	1	0	3	2	4	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:68151825G>C	ENST00000381346.4	-	6	871	c.761C>G	c.(760-762)tCc>tGc	p.S254C	RP11-1012A1.4_ENST00000554493.1_5'UTR|RDH11_ENST00000553384.1_Missense_Mutation_p.S241C|RDH11_ENST00000428130.2_Missense_Mutation_p.S184C|RP11-1012A1.4_ENST00000553306.1_Missense_Mutation_p.P85A	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	254					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GATGAAAAAGGAGAAAAGCCA	0.493													4	64					0	0	0	0	C	68151825	G	C	68151825	3	2	308	1	0	0	0	0	1	0	0	0	13272	1174	41	2	203	2	RDH11	14	68151825	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	3163557	68151825	39197715	202	55175											
RDH12	145226	broad.mit.edu	37	chr14	68196078	68196078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgagggcctggagcccCtgagtggcaagtacttcagg	7	8	16	10	0	1	2	1	2	0	0	1	3	1	3	3	5	2	3	3	5	2	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:68196078C>G	ENST00000551171.1	+	8	1153	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	RDH12_ENST00000539142.1_Missense_Mutation_p.L277V|RDH12_ENST00000267502.3_Missense_Mutation_p.L277V	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	277					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CCTGGAGCCCCTGAGTGGCAA	0.642													5	86					0	0	0	0	G	68196078	C	G	68196078	3	3	308	1	0	0	0	0	1	0	0	0	13273	680	24	4	851	4	RDH12	14	68196078	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	44253	68196078	39153462	203	55176											
SIPA1L1	26037	broad.mit.edu	37	chr14	72138364	72138364	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatgtgtttcagtgggtagTtttattaacattgaggagat	11	16	12	2	0	1	2	1	1	0	1	1	4	1	2	0	2	1	3	0	2	4	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:72138364T>C	ENST00000555818.1	+	8	3132	c.2784T>C	c.(2782-2784)agT>agC	p.S928S	SIPA1L1_ENST00000358550.2_Silent_p.S928S|SIPA1L1_ENST00000381232.3_Silent_p.S928S|SIPA1L1_ENST00000537413.1_Silent_p.S403S	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	928					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGTGGGTAGTTTTATTAACA	0.398													53	35					0	0	0	0	C	72138364	T	C	72138364	2	2	308	1	0	0	0	0	0	0	0	1	14417	1722	60	5		5	SIPA1L1	14	72138364	Silent	SNP	T	TCGA-CV-7414-01A-11D-2078-08	3942286	72138364	35211176	204	55177											
RGS6	9628	broad.mit.edu	37	chr14	72939626	72939626	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaggaaaattttggatagtCaagaacgagccttttgggat	15	11	11	4	1	1	1	1	0	0	1	1	5	1	4	1	3	2	0	1	3	6	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:72939626C>G	ENST00000553530.1	+	9	790	c.583C>G	c.(583-585)Caa>Gaa	p.Q195E	RGS6_ENST00000407322.4_Missense_Mutation_p.Q195E|RGS6_ENST00000343854.6_Missense_Mutation_p.Q195E|RGS6_ENST00000404301.2_Missense_Mutation_p.Q195E|RGS6_ENST00000402788.2_Missense_Mutation_p.Q195E|RGS6_ENST00000355512.6_Missense_Mutation_p.Q195E|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000406236.4_Missense_Mutation_p.Q195E|RGS6_ENST00000556437.1_Missense_Mutation_p.Q195E|RGS6_ENST00000555571.1_Missense_Mutation_p.Q195E|RGS6_ENST00000553525.1_Missense_Mutation_p.Q195E|RGS6_ENST00000434263.2_Missense_Mutation_p.Q126E|RGS6_ENST00000554782.1_Missense_Mutation_p.Q56E	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	195					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTTGGATAGTCAAGAACGAGC	0.363													11	219					0	0	0	0	G	72939626	C	G	72939626	3	3	308	1	0	0	0	0	1	0	0	0	13392	827	29	2	613	2	RGS6	14	72939626	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	801262	72939626	34409914	205	55178											
SPTLC2	9517	broad.mit.edu	37	chr14	78028787	78028787	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgacagtctggctcccaGaaccagtgatgcatgattca	10	10	9	12	0	2	4	1	3	1	1	4	4	4	4	3	1	2	2	3	1	1	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:78028787G>C	ENST00000216484.2	-	6	995	c.802C>G	c.(802-804)Ctg>Gtg	p.L268V		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	268						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CTGGCTCCCAGAACCAGTGAT	0.453													32	42					0	0	0	0	C	78028787	G	C	78028787	3	2	308	1	0	0	0	0	1	0	0	0	15214	933	33	2	914	2	SPTLC2	14	78028787	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	5089161	78028787	29320753	206	55179											
TDP1	55775	broad.mit.edu	37	chr14	90446954	90446954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccaacctcatccatgctGactggcaccagaaaactcaa	13	7	5	16	0	2	2	2	1	0	1	4	2	4	2	5	1	3	2	5	1	4	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:90446954G>C	ENST00000335725.4	+	8	1112	c.862G>C	c.(862-864)Gac>Cac	p.D288H	TDP1_ENST00000393452.3_Missense_Mutation_p.D288H|TDP1_ENST00000357382.3_Missense_Mutation_p.D49H|TDP1_ENST00000393454.2_Missense_Mutation_p.D288H|TDP1_ENST00000555880.1_Missense_Mutation_p.D288H	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	288					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CATCCATGCTGACTGGCACCA	0.453								Repair of DNA-protein crosslinks					8	42					0	0	0	0	C	90446954	G	C	90446954	3	2	308	1	0	0	0	0	1	0	0	0	15822	1290	45	2	884	2	TDP1	14	90446954	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	12418167	90446954	16902586	207	55180											
PRIMA1	145270	broad.mit.edu	37	chr14	94245530	94245530	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccattacttacctggggcgGagaggagtctgggaggtggc	7	8	18	8	1	1	1	0	0	1	1	1	4	1	3	2	7	2	0	2	7	2	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:94245530G>C	ENST00000393140.1	-	3	323	c.221C>G	c.(220-222)tCc>tGc	p.S74C	PRIMA1_ENST00000316227.3_Missense_Mutation_p.S74C|PRIMA1_ENST00000393143.1_Missense_Mutation_p.S74C	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	74					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		ACCTggggcggagaggagtct	0.647													3	7					0	0	0	0	C	94245530	G	C	94245530	3	2	308	1	0	0	0	0	1	0	0	0	12572	1174	41	2	252	2	PRIMA1	14	94245530	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	3798576	94245530	13104010	208	55181											
MAGEL2	54551	broad.mit.edu	37	chr15	23890666	23890666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttttgaaggggccctgcGctccttcgaggaggtcctgc	4	11	14	12	2	1	1	0	1	1	0	4	3	3	2	3	4	2	1	3	4	1	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:23890666G>A	ENST00000532292.1	-	1	509	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGGGCCCTGCGCTCCTTCGAG	0.577													10	15					0	0	0	0	A	23890666	G	A	23890666	3	1	308	1	0	0	0	0	1	0	0	0	9258	1087	38	1	1529	1	MAGEL2	15	23890666	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08		23890666	78640726	209	55182											
TP53BP1	7158	broad.mit.edu	37	chr15	43708450	43708450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatatctgctgcctttgtaaGaggtgttactgcttcatagg	8	15	11	7	0	2	1	1	0	1	1	2	2	2	1	1	2	4	4	1	2	4	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:43708450G>C	ENST00000263801.3	-	22	5083	c.4831C>G	c.(4831-4833)Ctt>Gtt	p.L1611V	TP53BP1_ENST00000382039.3_Missense_Mutation_p.L1566V|TP53BP1_ENST00000450115.2_Missense_Mutation_p.L1616V|TP53BP1_ENST00000382044.4_Missense_Mutation_p.L1616V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1611					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCCTTTGTAAGAGGTGTTACT	0.483								Other conserved DNA damage response genes					5	75					0	0	0	0	C	43708450	G	C	43708450	3	2	308	1	0	0	0	0	1	0	0	0	16478	942	33	2	1115	2	TP53BP1	15	43708450	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	19817784	43708450	58822942	210	55183											
SLC27A2	11001	broad.mit.edu	37	chr15	50494767	50494767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagcggattgaaggcagatGatgtcatctatatcactctg	12	12	10	7	1	4	3	2	2	2	1	4	4	4	4	0	2	1	1	0	2	4	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:50494767G>A	ENST00000267842.5	+	3	1004	c.772G>A	c.(772-774)Gat>Aat	p.D258N	SLC27A2_ENST00000380902.4_Intron|SLC27A2_ENST00000544960.1_Missense_Mutation_p.D23N	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	258					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GAAGGCAGATGATGTCATCTA	0.428													7	89					0	0	0	0	A	50494767	G	A	50494767	3	1	308	1	0	0	0	0	1	0	0	0	14614	1290	45	2	782	2	SLC27A2	15	50494767	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	6786317	50494767	52036625	211	55184											
TRPM7	54822	broad.mit.edu	37	chr15	50940979	50940979	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttccacagaccattcttCtattgcctgattaaaatggt	10	16	5	10	0	2	2	0	1	2	1	3	2	3	2	3	1	1	0	3	1	3	7			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:50940979C>G	ENST00000313478.7	-	4	507	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	TRPM7_ENST00000560955.1_Missense_Mutation_p.E76Q	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	76					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GACCATTCTTCTATTGCCTGA	0.413													36	95					0	0	0	0	G	50940979	C	G	50940979	3	3	308	1	0	0	0	0	1	0	0	0	16686	922	32	2	5515	2	TRPM7	15	50940979	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	446212	50940979	51590413	212	55185											
MYO5C	55930	broad.mit.edu	37	chr15	52515861	52515861	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgcaccactttgaagttCaaagcttcaatctccttttc	11	14	5	11	0	3	2	2	1	1	1	5	2	3	2	2	0	2	3	2	0	3	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:52515861C>T	ENST00000261839.7	-	29	3668	c.3507G>A	c.(3505-3507)ttG>ttA	p.L1169L		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1169						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTTTGAAGTTCAAAGCTTCAA	0.398													19	39					0	0	0	0	T	52515861	C	T	52515861	2	4	308	1	0	0	0	0	0	0	0	1	10150	825	29	2		2	MYO5C	15	52515861	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	1574882	52515861	50015531	213	55186											
WDR72	256764	broad.mit.edu	37	chr15	53994481	53994481	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttggtctaatttcgaagaGagaccatgtggatagagtaa	13	12	11	5	1	1	3	0	0	1	3	2	6	1	4	1	2	0	1	1	2	4	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:53994481G>C	ENST00000396328.1	-	12	1658	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L	WDR72_ENST00000557913.1_Silent_p.L470L|WDR72_ENST00000559418.1_Silent_p.L483L|WDR72_ENST00000360509.5_Silent_p.L473L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	473										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATTTCGAAGAGAGACCATGTG	0.378													6	98					0	0	0	0	C	53994481	G	C	53994481	2	2	308	1	0	0	0	0	0	0	0	1	17418	929	33	2		2	WDR72	15	53994481	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1478620	53994481	48536911	214	55187											
VPS13C	54832	broad.mit.edu	37	chr15	62258317	62258317	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtttttccaaaagcagtttGaaaactaggtccattcttat	13	15	6	7	0	1	1	0	1	1	0	3	1	3	1	2	1	2	3	2	1	6	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:62258317G>A	ENST00000261517.5	-	30	3089	c.3016C>T	c.(3016-3018)Caa>Taa	p.Q1006*	VPS13C_ENST00000249837.3_Nonsense_Mutation_p.Q963*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.Q963*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.Q1006*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1006					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAAGCAGTTTGAAAACTAGGT	0.308													14	22					0	0	0	0	A	62258317	G	A	62258317	4	1	308	1	0	0	0	0	0	1	0	0	17287	1299	45	2	8497	2	VPS13C	15	62258317	Nonsense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	8263836	62258317	40273075	215	55188											
TLN2	83660	broad.mit.edu	37	chr15	63017195	63017195	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcccatgaagcttgtggtccGatggaaatcgattcagctct	9	11	11	10	2	2	1	1	1	1	0	4	4	3	2	2	2	2	2	2	2	2	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:63017195G>C	ENST00000561311.1	+	26	3377	c.3147G>C	c.(3145-3147)ccG>ccC	p.P1049P	TLN2_ENST00000306829.6_Silent_p.P1049P			Q9Y4G6	TLN2_HUMAN	talin 2	1049	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTTGTGGTCCGATGGAAATCG	0.493													16	24					0	0	0	0	C	63017195	G	C	63017195	2	2	308	1	0	0	0	0	0	0	0	1	16042	1045	37	3		3	TLN2	15	63017195	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	758878	63017195	39514197	216	55189											
DIS3L	115752	broad.mit.edu	37	chr15	66601162	66601162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggaagtgaaacagaaggaGtattcgtgattactttcaag	15	11	11	4	1	1	3	1	2	0	1	2	5	1	5	0	2	2	1	0	2	6	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:66601162G>T	ENST00000319194.5	+	4	550	c.289G>T	c.(289-291)Gta>Tta	p.V97L	DIS3L_ENST00000441424.2_Missense_Mutation_p.V46L|DIS3L_ENST00000319212.4_Missense_Mutation_p.V180L	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	180					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			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						AACAGAAGGAGTATTCGTGAT	0.398													33	58					1.836e-18	1.917e-18	1	0	T	66601162	G	T	66601162	3	4	308	1	0	0	0	0	1	0	0	0	4573	1029	36	4	552	4	DIS3L	15	66601162	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	3583967	66601162	35930230	217	55190											
LRRC49	54839	broad.mit.edu	37	chr15	71302304	71302304	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtttaggctaagccatttCagtatgcagaaaataaatgg	14	12	9	6	0	1	1	1	0	0	1	1	1	1	1	1	2	2	4	1	2	7	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:71302304C>T	ENST00000260382.5	+	13	1826	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Silent_p.F210F|LRRC49_ENST00000544974.2_Silent_p.F512F|LRRC49_ENST00000560691.1_Silent_p.F228F|LRRC49_ENST00000560369.1_Silent_p.F527F|LRRC49_ENST00000443425.2_Silent_p.F478F	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	522						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TAAGCCATTTCAGTATGCAGA	0.318													17	22					0	0	0	0	T	71302304	C	T	71302304	2	4	308	1	0	0	0	0	0	0	0	1	9070	825	29	2		2	LRRC49	15	71302304	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	4701142	71302304	31229088	218	55191											
CCDC33	80125	broad.mit.edu	37	chr15	74536424	74536424	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggagaccatcatggtcacCctccatggggctaccaacct	11	7	9	14	0	2	1	2	0	0	1	3	2	3	1	5	4	2	1	5	4	3	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:74536424C>T	ENST00000321288.5	+	4	729	c.729C>T	c.(727-729)acC>acT	p.T243T	CCDC33_ENST00000398814.3_Silent_p.T40T			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	243	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCATGGTCACCCTCCATGGGG	0.607													20	31					0	0	0	0	T	74536424	C	T	74536424	2	4	308	1	0	0	0	0	0	0	0	1	2832	610	22	4		4	CCDC33	15	74536424	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	3234120	74536424	27994968	219	55192											
MTHFS	10588	broad.mit.edu	37	chr15	80181621	80181621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgtccttgatgatctcttCtgtctcaatttcatcttgca	8	18	5	10	0	5	2	2	2	4	0	8	2	6	2	1	0	1	1	1	0	2	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:80181621C>G	ENST00000258874.3	-	2	253	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.E41Q|MTHFS_ENST00000559722.1_5'UTR|ST20-MTHFS_ENST00000494999.1_5'UTR	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	65					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		ATGATCTCTTCTGTCTCAATT	0.408													30	45					0	0	0	0	G	80181621	C	G	80181621	3	3	308	1	0	0	0	0	1	0	0	0	10002	922	32	2	426	2	MTHFS	15	80181621	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	5645197	80181621	22349771	220	55193											
AGBL1	123624	broad.mit.edu	37	chr15	86697725	86697725	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgacattgattctggccagGaagaacctatcccatggcca	11	9	10	11	0	1	3	0	2	1	1	2	4	2	4	4	3	1	0	4	3	3	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:86697725G>C	ENST00000441037.2	+	3	284	c.189G>C	c.(187-189)agG>agC	p.R63S	AGBL1_ENST00000421325.2_Missense_Mutation_p.R63S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	63					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTCTGGCCAGGAAGAACCTAT	0.478													7	15					0	0	0	0	C	86697725	G	C	86697725	3	2	308	1	0	0	0	0	1	0	0	0	375	1165	41	2	195	2	AGBL1	15	86697725	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	6516104	86697725	15833667	221	55194											
DNAJA3	9093	broad.mit.edu	37	chr16	4491549	4491549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcctcttcatttggagatttCcagaccgtgtttgatcagcc	7	15	8	11	1	3	3	2	1	1	2	5	4	5	3	4	1	1	1	4	1	0	4	rs141103865		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:4491549C>G	ENST00000262375.6	+	4	680	c.603C>G	c.(601-603)ttC>ttG	p.F201L	DNAJA3_ENST00000431375.2_Missense_Mutation_p.F48L|DNAJA3_ENST00000355296.4_Missense_Mutation_p.F201L	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	201					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TTGGAGATTTCCAGACCGTGT	0.443													14	40					0	0	0	0	G	4491549	C	G	4491549	3	3	308	1	0	0	0	0	1	0	0	0	4649	854	30	2	617	2	DNAJA3	16	4491549	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08		4491549	85863204	222	55195											
NAGPA	51172	broad.mit.edu	37	chr16	5081854	5081854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctgcacaaatgggttctCagtgtccagcacctcctcct	8	10	8	15	0	1	0	1	0	1	0	5	0	4	0	4	1	3	4	4	1	1	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:5081854C>T	ENST00000312251.3	-	3	593	c.574G>A	c.(574-576)Gag>Aag	p.E192K	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.E192K|NAGPA_ENST00000564922.1_5'UTR	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	192					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	AATGGGTTCTCAGTGTCCAGC	0.557													8	93					0	0	0	0	T	5081854	C	T	5081854	3	4	308	1	0	0	0	0	1	0	0	0	10214	835	29	2	1005	2	NAGPA	16	5081854	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	590305	5081854	85272899	223	55196											
RRN3	54700	broad.mit.edu	37	chr16	15180300	15180300	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattctagcagccagttgatGatctggtcatccttaagtta	11	14	8	8	0	3	2	1	2	2	0	4	2	4	2	2	1	2	3	2	1	4	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:15180300G>C	ENST00000198767.6	-	4	347	c.264C>G	c.(262-264)atC>atG	p.I88M	RRN3_ENST00000327307.7_Missense_Mutation_p.I55M|RRN3_ENST00000429751.2_Intron|RRN3_ENST00000564131.1_Missense_Mutation_p.I88M|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000563559.1_Missense_Mutation_p.I88M	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	88					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						GCCAGTTGATGATCTGGTCAT	0.303													4	73					0	0	0	0	C	15180300	G	C	15180300	3	2	308	1	0	0	0	0	1	0	0	0	13769	1280	45	2	1751	2	RRN3	16	15180300	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	10098446	15180300	75174453	224	55197											
SMG1	23049	broad.mit.edu	37	chr16	18887543	18887543	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacattgaacacatgattcTtaaaagcctcatgttttatt	13	16	4	8	0	2	2	1	2	1	0	2	2	2	2	1	0	3	1	1	0	5	7			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:18887543T>A	ENST00000446231.2	-	13	2205	c.1793A>T	c.(1792-1794)aAg>aTg	p.K598M	SMG1_ENST00000565224.1_Missense_Mutation_p.K572M|SMG1_ENST00000389467.3_Missense_Mutation_p.K598M			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	598	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CACATGATTCTTAAAAGCCTC	0.373													28	62					0	0	0	0	A	18887543	T	A	18887543	3	1	308	1	0	0	0	0	1	0	0	0	14883	1609	56	5	9396	5	SMG1	16	18887543	Missense_Mutation	SNP	T	TCGA-CV-7414-01A-11D-2078-08	3707243	18887543	71467210	225	55198											
C16orf62	57020	broad.mit.edu	37	chr16	19663399	19663399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtggccttggccaaccaGtgcctctcccaaggtaagtc	8	8	11	14	0	1	0	0	0	1	0	3	0	1	0	5	4	2	1	5	4	3	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:19663399G>T	ENST00000438132.3	+	26	2523	c.2475G>T	c.(2473-2475)caG>caT	p.Q825H	C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000543152.1_Missense_Mutation_p.Q485H|C16orf62_ENST00000542263.1_Missense_Mutation_p.Q732H|C16orf62_ENST00000417362.2_Missense_Mutation_p.Q643H|C16orf62_ENST00000448695.1_Missense_Mutation_p.Q586H|C16orf62_ENST00000251143.5_Missense_Mutation_p.Q736H	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	736						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGGCCAACCAGTGCCTCTCCC	0.542													7	6					5.18039e-06	5.26945e-06	1	0	T	19663399	G	T	19663399	3	4	308	1	0	0	0	0	1	0	0	0	1838	1020	36	4	2310	4	C16orf62	16	19663399	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	775856	19663399	70691354	226	55199											
USP31	57478	broad.mit.edu	37	chr16	23116857	23116857	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaccaatcctcatgcagtGagaacatttgccttgataca	13	10	6	12	0	1	2	1	2	0	1	2	3	2	2	3	0	4	1	3	0	3	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:23116857G>C	ENST00000219689.7	-	5	993	c.994C>G	c.(994-996)Cac>Gac	p.H332D		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	332					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTCATGCAGTGAGAACATTTG	0.438													10	33					0	0	0	0	C	23116857	G	C	23116857	3	2	308	1	0	0	0	0	1	0	0	0	17158	1290	45	2	3112	2	USP31	16	23116857	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	3453458	23116857	67237896	227	55200											
COG7	91949	broad.mit.edu	37	chr16	23436072	23436072	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggaaggaatgtttacgtAggtgggggagcagtgccatc	10	8	17	6	1	0	0	0	0	0	0	1	3	0	3	1	5	3	4	1	5	4	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:23436072A>T	ENST00000307149.5	-	7	1192	c.1007T>A	c.(1006-1008)cTa>cAa	p.L336Q		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	336					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		ATGTTTACGTAGGTGGGGGAG	0.557													31	59					0	0	0	0	T	23436072	A	T	23436072	3	4	308	1	0	0	0	0	1	0	0	0	3693	420	15	5	1349	5	COG7	16	23436072	Missense_Mutation	SNP	A	TCGA-CV-7414-01A-11D-2078-08	319215	23436072	66918681	228	55201											
CORO1A	11151	broad.mit.edu	37	chr16	30199516	30199516	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttccccttcccacaggttCtacaagctgcacgagcggag	8	8	9	16	2	1	0	0	0	1	0	3	2	3	1	4	2	4	3	4	2	2	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:30199516C>G	ENST00000219150.5	+	9	1316	c.1011C>G	c.(1009-1011)ttC>ttG	p.F337L	CORO1A_ENST00000570045.1_Missense_Mutation_p.F337L|CORO1A_ENST00000565497.1_Missense_Mutation_p.F337L	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	337					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CCCACAGGTTCTACAAGCTGC	0.662													3	39					0	0	0	0	G	30199516	C	G	30199516	3	3	308	1	0	0	0	0	1	0	0	0	3783	912	32	2	1041	2	CORO1A	16	30199516	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	6763444	30199516	60155237	229	55202											
ZNF423	23090	broad.mit.edu	37	chr16	49559375	49559375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagtcgaacatctggttgCacagcttacactcgtggttg	8	11	13	9	2	1	0	0	0	1	0	3	2	1	1	0	3	4	4	0	3	2	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:49559375C>T	ENST00000561648.1	-	6	3661	c.3608G>A	c.(3607-3609)tGc>tAc	p.C1203Y	ZNF423_ENST00000262383.2_Missense_Mutation_p.C1203Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.C1086Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.C1143Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.C1086Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.C1143Y|ZNF423_ENST00000563137.2_Missense_Mutation_p.C1143Y	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1203					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CATCTGGTTGCACAGCTTACA	0.572													4	22					0	0	0	0	T	49559375	C	T	49559375	3	4	308	1	0	0	0	0	1	0	0	0	17993	710	25	4	258	4	ZNF423	16	49559375	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	19359859	49559375	40795378	230	55203											
NUP93	9688	broad.mit.edu	37	chr16	56875739	56875739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagtcatcgaggaccgCgactctgtaagatcccagca	11	6	11	13	4	2	1	1	0	1	1	4	5	3	2	2	1	2	2	2	1	1	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:56875739C>T	ENST00000564887.1	+	19	2603	c.1974C>T	c.(1972-1974)cgC>cgT	p.R658R	NUP93_ENST00000569842.1_Silent_p.R781R|NUP93_ENST00000308159.5_Silent_p.R781R|NUP93_ENST00000542526.1_Silent_p.R658R	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	781					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCGAGGACCGCGACTCTGTAA	0.512													21	10					0	0	0	0	T	56875739	C	T	56875739	2	4	308	1	0	0	0	0	0	0	0	1	10843	755	27	1		1	NUP93	16	56875739	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	7316364	56875739	33479014	231	55204											
CDH11	1009	broad.mit.edu	37	chr16	65032599	65032599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattggtgtccctgtccaccGcctgagccatcaacgtgtac	7	10	10	14	2	1	1	1	1	0	0	3	2	3	1	5	1	3	1	5	1	2	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:65032599G>A	ENST00000394156.3	-	4	842	c.389C>T	c.(388-390)gCg>gTg	p.A130V	CDH11_ENST00000566827.1_Missense_Mutation_p.A4V|CDH11_ENST00000268603.4_Missense_Mutation_p.A130V			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	130	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCTGTCCACCGCCTGAGCCAT	0.527			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			17	7					0	0	0	0	A	65032599	G	A	65032599	3	1	308	1	0	0	0	0	1	0	0	0	3126	1087	38	1	2041	1	CDH11	16	65032599	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	8156860	65032599	25322154	232	55205											
MYO1C	4641	broad.mit.edu	37	chr17	1373933	1373933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgatctcttcacccggaGgaatttctgccgccagtgaa	9	10	9	13	2	3	2	1	2	2	0	4	4	3	4	4	2	1	0	4	2	2	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:1373933G>T	ENST00000359786.5	-	22	2587	c.2263C>A	c.(2263-2265)Ctc>Atc	p.L755I	MYO1C_ENST00000575158.1_Missense_Mutation_p.L720I|MYO1C_ENST00000361007.2_Missense_Mutation_p.L720I|MYO1C_ENST00000545534.2_Missense_Mutation_p.L731I|MYO1C_ENST00000438665.2_Missense_Mutation_p.L736I	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	755	IQ 1.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTCACCCGGAGGAATTTCTGC	0.622													10	21					0.000219431	0.000221932	1	0	T	1373933	G	T	1373933	3	4	308	1	0	0	0	0	1	0	0	0	10140	1000	35	4	972	4	MYO1C	17	1373933	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08		1373933	79821277	233	55206											
ZZEF1	23140	broad.mit.edu	37	chr17	3928237	3928237	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgttttatacaatcctttCagggccagggacaggaccca	11	10	10	10	0	1	0	1	0	0	0	2	2	2	2	3	3	1	1	3	3	3	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:3928237C>T	ENST00000381638.2	-	43	7192	c.7068G>A	c.(7066-7068)ctG>ctA	p.L2356L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2356							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACAATCCTTTCAGGGCCAGGG	0.493													8	108					0	0	0	0	T	3928237	C	T	3928237	2	4	308	1	0	0	0	0	0	0	0	1	18346	813	29	2		2	ZZEF1	17	3928237	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	2554304	3928237	77266973	234	55207											
POLR2A	5430	broad.mit.edu	37	chr17	7404130	7404130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcccgatgatgaagacaGtggcccttacaagcacatct	12	8	8	13	1	1	3	0	2	1	1	2	4	2	3	3	1	2	1	3	1	3	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:7404130G>A	ENST00000322644.6	+	11	2243	c.1844G>A	c.(1843-1845)aGt>aAt	p.S615N		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	615					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GATGAAGACAGTGGCCCTTAC	0.547													98	7					0	0	0	0	A	7404130	G	A	7404130	3	1	308	1	0	0	0	0	1	0	0	0	12286	1029	36	4	1886	4	POLR2A	17	7404130	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	3475893	7404130	73791080	235	55208											
TP53	7157	broad.mit.edu	37	chr17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgcggagattctcttcctCtgtgcgccggtctctcccag	3	13	10	15	3	3	1	0	0	3	1	7	2	5	1	3	2	2	0	3	2	0	3	rs112431538		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTCTTCCTCTGTGCGCCGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	9					0	0	0	0	T	7577085	C	T	7577085	3	4	308	1	0	0	0	0	1	0	0	0	16476	922	32	2	433	2	TP53	17	7577085	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	172955	7577085	73618125	236	55209											
DNAH2	146754	broad.mit.edu	37	chr17	7735024	7735024	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatccagggtctcatcgtCatgtctacaagcctggaaga	10	9	11	11	1	3	1	2	0	2	1	6	2	4	2	2	3	2	1	2	3	3	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:7735024C>G	ENST00000572933.1	+	82	14117	c.12657C>G	c.(12655-12657)gtC>gtG	p.V4219V	DNAH2_ENST00000389173.2_Silent_p.V4219V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4219					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTCTCATCGTCATGTCTACAA	0.488													11	48					0	0	0	0	G	7735024	C	G	7735024	2	3	308	1	0	0	0	0	0	0	0	1	4639	813	29	2		2	DNAH2	17	7735024	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	157939	7735024	73460186	237	55210											
NCOR1	9611	broad.mit.edu	37	chr17	16024584	16024584	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttttccttggtattttctCtggacacaaaagcaaatgaa	12	14	6	9	0	1	1	0	1	1	0	3	2	2	2	2	2	1	2	2	2	5	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:16024584C>T	ENST00000268712.3	-	16	1892		c.e16-1		NCOR1_ENST00000395848.1_Splice_Site|NCOR1_ENST00000395851.1_Splice_Site|NCOR1_ENST00000583226.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGTATTTTCTCTGGACACAAA	0.383													5	132					0	0	0	0	T	16024584	C	T	16024584	5	4	308	1	0	0	0	0	0	0	1	0	10305	927	32	2	5812	2	NCOR1	17	16024584	Splice_Site	SNP	C	TCGA-CV-7414-01A-11D-2078-08	8289560	16024584	65170626	238	55211											
MYO15A	51168	broad.mit.edu	37	chr17	18023707	18023707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgccctacggccaccctttCtggggcttcctcacgccgcg	3	9	11	18	4	2	0	1	0	1	0	3	0	3	0	5	3	2	1	5	3	1	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:18023707C>G	ENST00000205890.5	+	2	1931	c.1593C>G	c.(1591-1593)ttC>ttG	p.F531L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	531	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCACCCTTTCTGGGGCTTCC	0.706													4	9					0	0	0	0	G	18023707	C	G	18023707	3	3	308	1	0	0	0	0	1	0	0	0	10133	912	32	2	1595	2	MYO15A	17	18023707	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	1999123	18023707	63171503	239	55212											
SHMT1	6470	broad.mit.edu	37	chr17	18238931	18238931	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaacacagcagaattgatAagagactccaggttgtacag	15	7	12	7	0	0	3	0	1	0	2	1	5	1	4	1	2	3	3	1	2	4	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:18238931A>C	ENST00000316694.3	-	8	1007	c.873T>G	c.(871-873)ctT>ctG	p.L291L	SHMT1_ENST00000352886.6_Intron|SHMT1_ENST00000354098.3_Intron|SHMT1_ENST00000539052.1_Silent_p.L153L	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	291					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CAGAATTGATAAGAGACTCCA	0.502													102	92					0	0	0	0	C	18238931	A	C	18238931	2	2	308	1	0	0	0	0	0	0	0	1	14373	349	13	5		5	SHMT1	17	18238931	Silent	SNP	A	TCGA-CV-7414-01A-11D-2078-08	215224	18238931	62956279	240	55213											
TRIM16L	147166	broad.mit.edu	37	chr17	18638380	18638380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtactattttgaggtggaGatcttcggggcaggcaccta	9	11	14	7	1	1	2	0	1	1	1	2	3	1	2	1	6	1	3	1	6	3	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:18638380G>T	ENST00000449552.2	+	7	2138	c.654G>T	c.(652-654)gaG>gaT	p.E218D	TRIM16L_ENST00000395671.4_Missense_Mutation_p.E218D|TRIM16L_ENST00000571708.1_Missense_Mutation_p.E218D|TRIM16L_ENST00000572555.1_Missense_Mutation_p.E218D|TRIM16L_ENST00000395672.2_Missense_Mutation_p.E218D|TRIM16L_ENST00000395902.3_Missense_Mutation_p.E272D|TRIM16L_ENST00000414850.2_Missense_Mutation_p.R131I			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	218	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TTGAGGTGGAGATCTTCGGGG	0.587													42	2					1.41504e-22	1.48621e-22	1	0	T	18638380	G	T	18638380	3	4	308	1	0	0	0	0	1	0	0	0	16587	933	33	2	668	2	TRIM16L	17	18638380	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	399449	18638380	62556830	241	55214											
ATAD5	79915	broad.mit.edu	37	chr17	29220591	29220591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaaacattggtaatattaGatgatagtgatctatttgac	16	14	8	3	0	1	5	0	3	1	2	1	5	1	5	0	1	1	1	0	1	7	7			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:29220591G>C	ENST00000321990.4	+	21	5098	c.4720G>C	c.(4720-4722)Gat>Cat	p.D1574H		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1574					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GGTAATATTAGATGATAGTGA	0.358													11	46					0	0	0	0	C	29220591	G	C	29220591	3	2	308	1	0	0	0	0	1	0	0	0	1080	942	33	2	4802	2	ATAD5	17	29220591	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	10582211	29220591	51974619	242	55215											
ATAD5	79915	broad.mit.edu	37	chr17	29221718	29221718	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaagactgagaagctaaaaGaacaaggaaaaagtaaaaga	24	4	10	3	0	0	4	0	1	0	4	0	6	0	5	0	1	2	3	0	1	10	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:29221718G>C	ENST00000321990.4	+	22	5812	c.5434G>C	c.(5434-5436)Gaa>Caa	p.E1812Q		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1812					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAGCTAAAAGAACAAGGAAA	0.303													7	36					0	0	0	0	C	29221718	G	C	29221718	3	2	308	1	0	0	0	0	1	0	0	0	1080	943	33	2	5520	2	ATAD5	17	29221718	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1127	29221718	51973492	243	55216											
FBXL20	84961	broad.mit.edu	37	chr17	37421664	37421664	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcaccaatacttgaagtcGaggacagtgtatagaaagtt	15	10	9	7	1	1	2	1	1	0	1	2	4	1	3	1	1	1	2	1	1	6	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:37421664G>A	ENST00000264658.6	-	13	1236	c.976C>T	c.(976-978)Cga>Tga	p.R326*	FBXL20_ENST00000577399.1_Nonsense_Mutation_p.R328*|FBXL20_ENST00000394294.3_Nonsense_Mutation_p.R294*|FBXL20_ENST00000583610.1_Nonsense_Mutation_p.R326*	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	326						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			ACTTGAAGTCGAGGACAGTGT	0.338													16	101					0	0	0	0	A	37421664	G	A	37421664	4	1	308	1	0	0	0	0	0	1	0	0	5762	1066	37	1	346	1	FBXL20	17	37421664	Nonsense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	8199946	37421664	43773546	244	55217											
MED1	5469	broad.mit.edu	37	chr17	37565028	37565028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagcctggcttccccccaGactgggatgaatttttggac	8	10	12	11	0	0	2	0	1	0	1	1	5	1	5	4	4	1	1	4	4	1	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:37565028G>A	ENST00000300651.6	-	17	3669	c.3446C>T	c.(3445-3447)tCt>tTt	p.S1149F	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1149	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTTCCCCCCAGACTGGGATGA	0.478										HNSCC(31;0.082)			9	74					0	0	0	0	A	37565028	G	A	37565028	3	1	308	1	0	0	0	0	1	0	0	0	9494	942	33	2	1303	2	MED1	17	37565028	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	143364	37565028	43630182	245	55218											
MED1	5469	broad.mit.edu	37	chr17	37565889	37565889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatcaggattgaaatctactCcatcatgaaaaaaatgattg	18	11	6	6	0	3	3	2	3	1	0	4	4	4	4	1	1	1	0	1	1	6	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:37565889C>T	ENST00000300651.6	-	17	2808	c.2585G>A	c.(2584-2586)gGa>gAa	p.G862E	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	862	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAAATCTACTCCATCATGAAA	0.388										HNSCC(31;0.082)			31	223					0	0	0	0	T	37565889	C	T	37565889	3	4	308	1	0	0	0	0	1	0	0	0	9494	855	30	2	2164	2	MED1	17	37565889	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	861	37565889	43629321	246	55219											
KRT26	353288	broad.mit.edu	37	chr17	38928008	38928008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agagccaggctcacatttctCgtaccagcccttgatcttct	8	12	7	14	1	4	2	1	1	3	1	5	2	4	2	3	1	3	2	3	1	1	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:38928008C>G	ENST00000335552.4	-	1	406	c.358G>C	c.(358-360)Gag>Cag	p.E120Q		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	120	Linker 1.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TCACATTTCTCGTACCAGCCC	0.498													10	104					0	0	0	0	G	38928008	C	G	38928008	3	3	308	1	0	0	0	0	1	0	0	0	8515	893	31	3	1080	3	KRT26	17	38928008	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	1362119	38928008	42267202	247	55220											
WNK4	65266	broad.mit.edu	37	chr17	40932738	40932738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgttggcatccccggccacgGagaccaccgtcctcatgtcc	6	8	10	17	3	1	1	1	0	0	1	4	2	4	1	7	3	0	2	7	3	0	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:40932738G>C	ENST00000246914.5	+	1	43	c.22G>C	c.(22-24)Gag>Cag	p.E8Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	8					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCGGCCACGGAGACCACCGT	0.711													9	6					0	0	0	0	C	40932738	G	C	40932738	3	2	308	1	0	0	0	0	1	0	0	0	17476	1175	41	2	24	2	WNK4	17	40932738	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	2004730	40932738	40262472	248	55221											
SPAG9	9043	broad.mit.edu	37	chr17	49057213	49057213	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgaatggagacccacacGccatcccccacccacgcaag	13	2	8	18	3	0	1	0	0	0	1	1	3	1	1	5	1	1	1	5	1	3	0	rs149696370		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:49057213G>C	ENST00000262013.7	-	26	3511	c.3303C>G	c.(3301-3303)ggC>ggG	p.G1101G	SPAG9_ENST00000510283.1_Silent_p.G944G|SPAG9_ENST00000357122.4_Silent_p.G1087G|SPAG9_ENST00000505279.1_Silent_p.G1091G	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1101					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AGACCCACACGCCATCCCCCA	0.473													26	14					0	0	0	0	C	49057213	G	C	49057213	2	2	308	1	0	0	0	0	0	0	0	1	15075	1074	38	3		3	SPAG9	17	49057213	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	8124475	49057213	32137997	249	55222											
CSH2	1443	broad.mit.edu	37	chr17	61949939	61949939	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctggcgccaccctcacccCcatcagcgtttggatgcctt	5	9	8	19	2	2	0	2	0	0	0	2	1	2	1	6	2	2	1	6	2	0	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:61949939C>A	ENST00000336844.5	-	4	605	c.454G>T	c.(454-456)Ggg>Tgg	p.G152W	CSH2_ENST00000560142.1_Missense_Mutation_p.G95W|CSH2_ENST00000392886.2_Missense_Mutation_p.G152W|CSH2_ENST00000345366.7_Intron	NM_022644.3	NP_072170.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	152					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						ACCCTCACCCCCATCAGCGTT	0.582													14	84					8.60227e-14	8.92926e-14	1	0	A	61949939	C	A	61949939	3	1	308	1	0	0	0	0	1	0	0	0	3973	623	22	4	255	4	CSH2	17	61949939	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	12892726	61949939	19245271	250	55223											
PRKCA	5578	broad.mit.edu	37	chr17	64299066	64299066	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgaggcagaagaacgtgcacGaggtgaaggaccacaaattc	15	5	13	8	2	0	4	0	2	0	2	1	6	0	5	1	3	2	2	1	3	4	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:64299066G>C	ENST00000413366.3	+	1	123	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	33					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.E33K(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GAACGTGCACGAGGTGAAGGA	0.627													21	40					0	0	0	0	C	64299066	G	C	64299066	3	2	308	1	0	0	0	0	1	0	0	0	12587	1059	37	3	99	3	PRKCA	17	64299066	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	2349127	64299066	16896144	251	55224											
HELZ	9931	broad.mit.edu	37	chr17	65119122	65119122	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataactacattccctccataGacagcaggtacataaagaat	17	9	5	10	0	0	2	0	0	0	2	2	2	2	2	2	1	4	2	2	1	7	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:65119122G>C	ENST00000358691.5	-	26	3760	c.3594C>G	c.(3592-3594)gtC>gtG	p.V1198V	HELZ_ENST00000580168.1_Silent_p.V1199V	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCCTCCATAGACAGCAGGTA	0.408													9	86					0	0	0	0	C	65119122	G	C	65119122	2	2	308	1	0	0	0	0	0	0	0	1	7099	929	33	2		2	HELZ	17	65119122	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	820056	65119122	16076088	252	55225											
QRICH2	84074	broad.mit.edu	37	chr17	74287156	74287156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttggccggcctgctcctcatCcagatccttcatactctcct	5	13	6	17	1	3	1	2	0	1	1	7	1	6	1	6	2	2	1	6	2	1	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:74287156C>G	ENST00000262765.5	-	4	3333	c.3154G>C	c.(3154-3156)Gat>Cat	p.D1052H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1052							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TGCTCCTCATCCAGATCCTTC	0.527													32	63					0	0	0	0	G	74287156	C	G	74287156	3	3	308	1	0	0	0	0	1	0	0	0	12962	855	30	2	1901	2	QRICH2	17	74287156	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	9168034	74287156	6908054	253	55226											
ENPP7	339221	broad.mit.edu	37	chr17	77710865	77710865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taacgtccagttcaacaatgGggagcacggctttgacaaca	13	8	10	10	2	1	1	1	1	0	0	2	2	2	2	1	3	4	3	1	3	4	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:77710865G>A	ENST00000328313.5	+	4	1273	c.1052G>A	c.(1051-1053)gGg>gAg	p.G351E		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	351					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TTCAACAATGGGGAGCACGGC	0.602													28	6					0	0	0	0	A	77710865	G	A	77710865	3	1	308	1	0	0	0	0	1	0	0	0	5173	1232	43	4	1066	4	ENPP7	17	77710865	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	3423709	77710865	3484345	254	55227											
RNF213	57674	broad.mit.edu	37	chr17	78321903	78321903	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtctgaggaggccaaatcGatcctgctgaactgcgctac	9	9	12	11	2	1	2	0	2	1	0	3	4	2	3	2	2	4	2	2	2	3	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:78321903G>A	ENST00000582970.1	+	29	9911	c.9768G>A	c.(9766-9768)tcG>tcA	p.S3256S	RNF213_ENST00000508628.2_Silent_p.S3305S|RNF213_ENST00000336301.6_Silent_p.S1329S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGCCAAATCGATCCTGCTGA	0.642													37	6					0	0	0	0	A	78321903	G	A	78321903	2	1	308	1	0	0	0	0	0	0	0	1	13562	1045	37	1		1	RNF213	17	78321903	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	611038	78321903	2873307	255	55228											
ZNF750	79755	broad.mit.edu	37	chr17	80789425	80789425	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaaacctgtagtgatcGtatgtggctggagatggagc	11	10	15	5	1	0	2	0	1	0	1	1	5	0	4	1	4	2	3	1	4	4	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:80789425G>C	ENST00000269394.3	-	2	1739	c.906C>G	c.(904-906)taC>taG	p.Y302*	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	302						intracellular	zinc ion binding	p.Y302Y(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGTAGTGATCGTATGTGGCTG	0.547													115	31					0	0	0	0	C	80789425	G	C	80789425	4	2	308	1	0	0	0	0	0	1	0	0	18226	1140	40	3	1273	3	ZNF750	17	80789425	Nonsense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	2467522	80789425	405785	256	55229											
COLEC12	81035	broad.mit.edu	37	chr18	346848	346848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctctgcactttctccttCagccaatccgtgtccttctt	6	15	5	15	1	4	0	1	0	3	0	7	0	6	0	4	0	3	2	4	0	2	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr18:346848C>T	ENST00000400256.3	-	5	981	c.774G>A	c.(772-774)ctG>ctA	p.L258L		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	258					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTTTCTCCTTCAGCCAATCCG	0.512													9	30					0	0	0	0	T	346848	C	T	346848	2	4	308	1	0	0	0	0	0	0	0	1	3742	813	29	2		2	COLEC12	18	346848	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08		346848	77730400	257	55230											
CTAGE1	64693	broad.mit.edu	37	chr18	19995601	19995601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaggaagaaaacctctcGgtaaatagacatttctcatt	15	11	8	7	1	2	2	1	0	2	2	4	3	2	3	1	3	1	2	1	3	7	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr18:19995601G>T	ENST00000391403.2	-	1	2277	c.2174C>A	c.(2173-2175)cCg>cAg	p.P725Q		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	725	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AAAACCTCTCGGTAAATAGAC	0.498													22	26					5.26018e-13	5.42838e-13	1	0	T	19995601	G	T	19995601	3	4	308	1	0	0	0	0	1	0	0	0	4024	1116	39	3	67	3	CTAGE1	18	19995601	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	19648753	19995601	58081647	258	55231											
SETBP1	26040	broad.mit.edu	37	chr18	42532870	42532870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagccacatcctgagcgagCggctgagtagcgcagacaaa	12	4	12	13	3	0	3	0	2	0	1	1	4	1	3	3	1	4	3	3	1	2	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr18:42532870C>T	ENST00000282030.5	+	4	3861	c.3565C>T	c.(3565-3567)Cgg>Tgg	p.R1189W		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1189						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCTGAGCGAGCGGCTGAGTAG	0.552									Schinzel-Giedion syndrome				3	43					0	0	0	0	T	42532870	C	T	42532870	3	4	308	1	0	0	0	0	1	0	0	0	14216	759	27	1	3768	1	SETBP1	18	42532870	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	22537269	42532870	35544378	259	55232											
CDH7	1005	broad.mit.edu	37	chr18	63489364	63489364	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatagagaggctaaagacCagtatttgcttgtcattcag	12	12	11	6	0	2	2	2	0	0	2	2	4	2	3	1	2	1	3	1	2	4	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr18:63489364C>A	ENST00000536984.2	+	5	1367	c.673C>A	c.(673-675)Cag>Aag	p.Q225K	CDH7_ENST00000323011.3_Missense_Mutation_p.Q225K|CDH7_ENST00000397968.2_Missense_Mutation_p.Q225K			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	225	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGCTAAAGACCAGTATTTGCT	0.403													18	34					5.35267e-07	5.47607e-07	1	0	A	63489364	C	A	63489364	3	1	308	1	0	0	0	0	1	0	0	0	3144	595	21	4	687	4	CDH7	18	63489364	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	20956494	63489364	14587884	260	55233											
CTDP1	9150	broad.mit.edu	37	chr18	77513778	77513778	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgctggaggcggagctcaaCgacctcatgtgagcgcgggc	7	5	17	12	5	2	1	2	1	0	0	2	4	2	3	1	4	3	2	1	4	1	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr18:77513778C>T	ENST00000299543.7	+	13	3021	c.2874C>T	c.(2872-2874)aaC>aaT	p.N958N	CTDP1_ENST00000075430.7_3'UTR	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	958					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CGGAGCTCAACGACCTCATGT	0.687													9	13					0	0	0	0	T	77513778	C	T	77513778	2	4	308	1	0	0	0	0	0	0	0	1	4034	535	19	1		1	CTDP1	18	77513778	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	14024414	77513778	563470	261	55234											
APC2	10297	broad.mit.edu	37	chr19	1462153	1462153	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccgcaatgtgtccagcctCgtcgccacccgtgaggacta	7	8	10	16	4	0	1	0	1	0	0	4	2	2	2	5	1	1	1	5	1	2	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:1462153C>T	ENST00000535453.1	+	13	3543	c.1830C>T	c.(1828-1830)ctC>ctT	p.L610L	APC2_ENST00000238483.4_Silent_p.L336L|APC2_ENST00000233607.2_Silent_p.L610L|C19orf25_ENST00000588427.1_Intron|CTB-25B13.12_ENST00000588225.1_RNA			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	610					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		TGTCCAGCCTCGTCGCCACCC	0.692													4	5					0	0	0	0	T	1462153	C	T	1462153	2	4	308	1	0	0	0	0	0	0	0	1	765	871	31	1		1	APC2	19	1462153	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08		1462153	57666830	262	55235											
ADAMTSL5	339366	broad.mit.edu	37	chr19	1510410	1510410	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgggagtctccccagcacGgttcttccccaggaagcctg	7	8	11	15	1	2	0	0	0	2	0	4	2	3	2	5	3	2	2	5	3	1	2	rs149832091		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:1510410G>C	ENST00000330475.4	-	4	652	c.209C>G	c.(208-210)cCg>cGg	p.P70R	ADAMTSL5_ENST00000395467.2_5'UTR|ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.P80R|ADAMTSL5_ENST00000590562.1_5'UTR	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	70	TSP type-1.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCAGCACGGTTCTTCCCC	0.672													4	12					0	0	0	0	C	1510410	G	C	1510410	3	2	308	1	0	0	0	0	1	0	0	0	278	1116	39	3	1242	3	ADAMTSL5	19	1510410	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	48257	1510410	57618573	263	55236											
S1PR4	8698	broad.mit.edu	37	chr19	3179237	3179237	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctttgccaccatggtgcgGccggtggccgagagcggggc	4	6	18	13	5	0	1	0	0	0	1	0	2	0	1	4	6	3	1	4	6	0	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:3179237G>A	ENST00000246115.3	+	1	502	c.447G>A	c.(445-447)cgG>cgA	p.R149R	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	149					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CCATGGTGCGGCCGGTGGCCG	0.692													4	66					0	0	0	0	A	3179237	G	A	3179237	2	1	308	1	0	0	0	0	0	0	0	1	13881	1190	42	4		4	S1PR4	19	3179237	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1668827	3179237	55949746	264	55237											
PLIN3	10226	broad.mit.edu	37	chr19	4859609	4859609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacatcgttaccttctccGtgggctgctgcaggatgggg	5	10	15	11	3	1	0	0	0	1	0	3	2	1	2	2	5	3	4	2	5	1	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:4859609G>A	ENST00000221957.4	-	4	517	c.341C>T	c.(340-342)aCg>aTg	p.T114M	PLIN3_ENST00000592528.1_Missense_Mutation_p.T114M|PLIN3_ENST00000585479.1_Missense_Mutation_p.T114M	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	114					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TACCTTCTCCGTGGGCTGCTG	0.572													21	29					0	0	0	0	A	4859609	G	A	4859609	3	1	308	1	0	0	0	0	1	0	0	0	12163	1145	40	1	983	1	PLIN3	19	4859609	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1680372	4859609	54269374	265	55238											
MUC16	94025	broad.mit.edu	37	chr19	9085082	9085082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagacagtgggaatactctCagccccatctgaaggtgtgt	10	9	13	9	0	2	2	1	1	2	1	3	4	2	3	2	3	2	0	2	3	3	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:9085082C>T	ENST00000397910.4	-	1	6936	c.6733G>A	c.(6733-6735)Gag>Aag	p.E2245K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2245	Ser-rich.|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						GGAATACTCTCAGCCCCATCT	0.448													11	19					0	0	0	0	T	9085082	C	T	9085082	3	4	308	1	0	0	0	0	1	0	0	0	10043	835	29	2	37126	2	MUC16	19	9085082	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	4225473	9085082	50043901	266	55239											
ZNF699	374879	broad.mit.edu	37	chr19	9407596	9407596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataacattcatagatgttctCtaccatatgatttcttttaa	13	18	3	7	0	3	2	1	1	2	1	4	2	3	2	1	0	2	1	1	0	5	9			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:9407596C>G	ENST00000591998.1	-	6	712	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	ZNF699_ENST00000308650.3_Missense_Mutation_p.E162Q			Q32M78	ZN699_HUMAN	zinc finger protein 699	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGATGTTCTCTACCATATGA	0.299													5	18					0	0	0	0	G	9407596	C	G	9407596	3	3	308	1	0	0	0	0	1	0	0	0	18196	922	32	2	1448	2	ZNF699	19	9407596	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	322514	9407596	49721387	267	55240											
MAN2B1	4125	broad.mit.edu	37	chr19	12776599	12776599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgcacgttcagcatgttCggctgcactgtggggcatgt	6	11	15	9	2	1	0	1	0	0	0	2	0	1	0	0	4	3	7	0	4	0	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:12776599C>T	ENST00000456935.2	-	2	220	c.180G>A	c.(178-180)ccG>ccA	p.P60P	MAN2B1_ENST00000221363.4_Silent_p.P60P|CTD-2192J16.24_ENST00000597961.1_Silent_p.P57P	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	60					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCAGCATGTTCGGCTGCACTG	0.547													15	33					0	0	0	0	T	12776599	C	T	12776599	2	4	308	1	0	0	0	0	0	0	0	1	9285	871	31	1		1	MAN2B1	19	12776599	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	3369003	12776599	46352384	268	55241											
DHPS	1725	broad.mit.edu	37	chr19	12790281	12790281	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcctcaccttctgggccCagtaatacacggactctggg	8	9	11	13	1	3	0	1	0	2	0	4	1	4	1	3	4	1	1	3	4	2	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:12790281C>T	ENST00000210060.7	-	5	803	c.668G>A	c.(667-669)tGg>tAg	p.W223*	DHPS_ENST00000351660.5_Nonsense_Mutation_p.W223*|DHPS_ENST00000594424.1_Nonsense_Mutation_p.W181*	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	223					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	CTTCTGGGCCCAGTAATACAC	0.512													72	98					0	0	0	0	T	12790281	C	T	12790281	4	4	308	1	0	0	0	0	0	1	0	0	4522	595	21	4	461	4	DHPS	19	12790281	Nonsense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	13682	12790281	46338702	269	55242											
PKN1	5585	broad.mit.edu	37	chr19	14562741	14562741	+	Frame_Shift_Del	DEL	C	C	-																															cctgggaccccagacagccgCccccccttcctgagccgccc																										TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:14562741delC	ENST00000242783.6	+	7	1236	c.1071delC	c.(1069-1071)cgfs	p.R357fs	PKN1_ENST00000342216.4_Frame_Shift_Del_p.R363fs	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	357	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	p.F360fs*2(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGACAGCCGCCCCCCCTTCC	0.667													11	10	---	---	---	---					-	14562741	C	-	14562741	7	5	308	1	0	1	0	1	0	0	0	0	12051	726	26	0	1140	0	PKN1	19	14562741	Frame_Shift_Del	DEL	C	TCGA-CV-7414-01A-11D-2078-08	1772460	14562741	44566242	270	55243											
TSSK6	83983	broad.mit.edu	37	chr19	19626011	19626011	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacacctcgatgaactcgaAgacgtgcacgatgtgcgggt	10	7	13	11	5	0	2	0	1	0	1	2	5	0	2	1	1	3	2	1	1	2	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:19626011A>G	ENST00000360913.3	-	1	827	c.226T>C	c.(226-228)Ttc>Ctc	p.F76L	TSSK6_ENST00000585580.3_Missense_Mutation_p.F76L			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	76	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						ATGAACTCGAAGACGTGCACG	0.667													11	26					0	0	0	0	G	19626011	A	G	19626011	3	3	308	1	0	0	0	0	1	0	0	0	16767	72	3	5	599	5	TSSK6	19	19626011	Missense_Mutation	SNP	A	TCGA-CV-7414-01A-11D-2078-08	5063270	19626011	39502972	271	55244											
ZNF91	7644	broad.mit.edu	37	chr19	23544721	23544721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctaaaagctttgccacattCtttacatttgtagggtttct	9	17	7	8	0	2	0	0	0	2	0	2	0	2	0	1	1	3	4	1	1	4	8			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:23544721C>G	ENST00000300619.7	-	4	1265	c.1060G>C	c.(1060-1062)Gaa>Caa	p.E354Q	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E322Q	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	354						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTGCCACATTCTTTACATTTG	0.368													14	32					0	0	0	0	G	23544721	C	G	23544721	3	3	308	1	0	0	0	0	1	0	0	0	18293	922	32	2	2519	2	ZNF91	19	23544721	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	3918710	23544721	35584262	272	55245											
ZNF536	9745	broad.mit.edu	37	chr19	30935350	30935350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagctggaccgccacatccGcatcttgcacaagccctaca	10	6	9	16	2	1	0	0	0	1	0	2	2	2	2	4	2	4	3	4	2	2	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:30935350G>A	ENST00000355537.3	+	2	1028	c.881G>A	c.(880-882)cGc>cAc	p.R294H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGCCACATCCGCATCTTGCAC	0.647													33	45					0	0	0	0	A	30935350	G	A	30935350	3	1	308	1	0	0	0	0	1	0	0	0	18069	1087	38	1	883	1	ZNF536	19	30935350	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	7390629	30935350	28193633	273	55246											
LGALS14	56891	broad.mit.edu	37	chr19	40196569	40196569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccctgacccacaggcttCatttgtgcaagtactggggc	7	11	11	12	0	1	1	1	1	0	0	2	1	2	1	2	3	2	3	2	3	2	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:40196569C>T	ENST00000360675.3	+	2	288	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	LGALS14_ENST00000392052.3_Intron	NM_203471.1	NP_982297.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	0	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CCACAGGCTTCATTTGTGCAA	0.478													8	85					0	0	0	0	T	40196569	C	T	40196569	3	4	308	1	0	0	0	0	1	0	0	0	8794	826	29	2	43	2	LGALS14	19	40196569	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	9261219	40196569	18932414	274	55247											
FCGBP	8857	broad.mit.edu	37	chr19	40363228	40363228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaaccatgtttcggccctCggcggtcacccgcacgcggc	6	6	12	17	6	1	1	1	0	0	1	3	1	1	1	3	4	1	2	3	4	1	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:40363228C>T	ENST00000221347.6	-	32	14849	c.14842G>A	c.(14842-14844)Gag>Aag	p.E4948K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4948	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTTCGGCCCTCGGCGGTCACC	0.662													10	13					0	0	0	0	T	40363228	C	T	40363228	3	4	308	1	0	0	0	0	1	0	0	0	5823	893	31	1	1395	1	FCGBP	19	40363228	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	166659	40363228	18765755	275	55248											
ZNF226	7769	broad.mit.edu	37	chr19	44680376	44680376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaattcagtcagggcgctCatctacagacccatcagaaa	14	7	9	11	1	5	2	4	0	1	2	5	3	5	3	1	2	1	1	1	2	3	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:44680376C>T	ENST00000590089.1	+	7	1328	c.961C>T	c.(961-963)Cat>Tat	p.H321Y	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.H321Y|ZNF226_ENST00000337433.5_Missense_Mutation_p.H321Y			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TCAGGGCGCTCATCTACAGAC	0.428													5	38					0	0	0	0	T	44680376	C	T	44680376	3	4	308	1	0	0	0	0	1	0	0	0	17875	826	29	2	1029	2	ZNF226	19	44680376	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	4317148	44680376	14448607	276	55249											
ZNF320	162967	broad.mit.edu	37	chr19	53385154	53385154	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgataacttgcttgtctCtgcaatgtccctgtgtggat	7	16	10	8	0	1	1	0	1	1	0	3	2	2	2	1	1	3	2	1	1	2	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:53385154C>T	ENST00000595635.1	-	8	726	c.225G>A	c.(223-225)caG>caA	p.Q75Q	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Silent_p.Q75Q|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TTGCTTGTCTCTGCAATGTCC	0.393													11	149					0	0	0	0	T	53385154	C	T	53385154	2	4	308	1	0	0	0	0	0	0	0	1	17934	912	32	2		2	ZNF320	19	53385154	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	8704778	53385154	5743829	277	55250											
ZNF347	84671	broad.mit.edu	37	chr19	53652521	53652521	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggccaggttcctataattctCcaacatcacgtccctgtaca	10	11	6	14	1	2	0	1	0	1	0	5	0	4	0	4	2	2	2	4	2	4	5			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:53652521C>G	ENST00000452676.2	-	3	541	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.E39Q|ZNF347_ENST00000601469.2_Missense_Mutation_p.E39Q	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CTATAATTCTCCAACATCACG	0.517													41	71					0	0	0	0	G	53652521	C	G	53652521	3	3	308	1	0	0	0	0	1	0	0	0	17956	864	30	2	2419	2	ZNF347	19	53652521	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	267367	53652521	5476462	278	55251											
NLRP7	199713	broad.mit.edu	37	chr19	55451377	55451377	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcttctcccagtccccGcagatgtcctggatcagcgc	5	12	8	16	2	4	1	1	0	3	1	7	2	6	2	4	1	1	1	4	1	0	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:55451377G>A	ENST00000588756.1	-	6	1296	c.810C>T	c.(808-810)tgC>tgT	p.C270C	NLRP7_ENST00000590030.1_Silent_p.C270C|NLRP7_ENST00000448121.2_Silent_p.C270C|NLRP7_ENST00000592784.1_Silent_p.C270C|NLRP7_ENST00000328092.5_Silent_p.C270C|NLRP7_ENST00000340844.2_Silent_p.C270C|NLRP7_ENST00000446217.1_Silent_p.C298C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	270	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)		CCCAGTCCCCGCAGATGTCCT	0.592													28	38					0	0	0	0	A	55451377	G	A	55451377	2	1	308	1	0	0	0	0	0	0	0	1	10552	1079	38	1		1	NLRP7	19	55451377	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1798856	55451377	3677606	279	55252											
U2AF2	11338	broad.mit.edu	37	chr19	56166482	56166482	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcctcagcatgtcggacttCgacgagttcgagcggcagct	7	8	13	13	6	1	0	1	0	0	0	4	4	1	1	1	2	3	4	1	2	0	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:56166482C>T	ENST00000450554.2	+	1	971	c.12C>T	c.(10-12)ttC>ttT	p.F4F	U2AF2_ENST00000308924.4_Silent_p.F4F	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	4					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TGTCGGACTTCGACGAGTTCG	0.692													6	15					0	0	0	0	T	56166482	C	T	56166482	2	4	308	1	0	0	0	0	0	0	0	1	16919	883	31	1		1	U2AF2	19	56166482	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	715105	56166482	2962501	280	55253											
SIRPD	128646	broad.mit.edu	37	chr20	1517864	1517864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagtttgtgctgtttctctCaggcagggccgagaggcagg	7	11	15	8	1	2	1	1	0	1	1	3	2	2	1	1	4	1	5	1	4	1	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:1517864C>G	ENST00000381623.3	-	3	1703	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	SIRPD_ENST00000381621.1_Missense_Mutation_p.E173Q			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	172						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CTGTTTCTCTCAGGCAGGGCC	0.602													5	83					0	0	0	0	G	1517864	C	G	1517864	3	3	308	1	0	0	0	0	1	0	0	0	14423	835	29	2	87	2	SIRPD	20	1517864	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08		1517864	61507656	281	55254											
SLC4A11	83959	broad.mit.edu	37	chr20	3210904	3210904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcgatgatctcctccgtcGacctgccaggaggccatgag	7	7	14	13	3	1	2	0	2	1	0	4	5	2	3	5	3	1	0	5	3	0	0	rs121909388		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:3210904G>A	ENST00000380059.3	-	13	1648	c.1547C>T	c.(1546-1548)tCg>tTg	p.S516L	SLC4A11_ENST00000539553.1_Missense_Mutation_p.S473L|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.S489L	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	489	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CTCCTCCGTCGACCTGCCAGG	0.637													14	20					0	0	0	0	A	3210904	G	A	3210904	3	1	308	1	0	0	0	0	1	0	0	0	14740	1059	37	1	1241	1	SLC4A11	20	3210904	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1693040	3210904	59814616	282	55255											
NKX2-2	4821	broad.mit.edu	37	chr20	21494272	21494272	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaggtctaagatgtccttGaccgaaaaccccgtctttgt	9	11	10	11	2	2	2	0	1	2	1	3	3	3	2	4	2	1	1	4	2	3	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:21494272G>A	ENST00000377142.4	-	1	392	c.36C>T	c.(34-36)gtC>gtT	p.V12V		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	12					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGATGTCCTTGACCGAAAACC	0.572													6	51					0	0	0	0	A	21494272	G	A	21494272	2	1	308	1	0	0	0	0	0	0	0	1	10520	1277	45	2		2	NKX2-2	20	21494272	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	18283368	21494272	41531248	283	55256											
EIF2S2	8894	broad.mit.edu	37	chr20	32677564	32677564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttggcacggagctgtgctCgcttgcccgtgacagcctgg	4	10	14	13	3	0	1	0	1	0	0	1	2	0	2	2	3	4	4	2	3	0	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:32677564C>T	ENST00000374980.2	-	9	1195	c.974G>A	c.(973-975)cGa>cAa	p.R325Q		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	325						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						GAGCTGTGCTCGCTTGCCCGT	0.473													23	40					0	0	0	0	T	32677564	C	T	32677564	3	4	308	1	0	0	0	0	1	0	0	0	5046	884	31	1	31	1	EIF2S2	20	32677564	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	11183292	32677564	30347956	284	55257											
LBP	3929	broad.mit.edu	37	chr20	36993299	36993299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagtcatgagccttcctgagGaacacaacaaaatggtctac	14	8	8	11	0	2	2	1	2	1	0	3	3	3	3	2	2	4	0	2	2	5	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:36993299G>A	ENST00000217407.2	+	8	975	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	272					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CCTTCCTGAGGAACACAACAA	0.468													45	84					0	0	0	0	A	36993299	G	A	36993299	3	1	308	1	0	0	0	0	1	0	0	0	8704	1175	41	2	844	2	LBP	20	36993299	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	4315735	36993299	26032221	285	55258											
CHD6	84181	broad.mit.edu	37	chr20	40050616	40050616	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgcagctgagggcacttGagcacttgctctcggacttt	7	12	11	11	1	2	2	1	2	1	0	3	3	2	3	0	2	4	5	0	2	0	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:40050616G>C	ENST00000373233.3	-	31	4836	c.4659C>G	c.(4657-4659)ctC>ctG	p.L1553L		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1553					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGGGCACTTGAGCACTTGCT	0.562													14	39					0	0	0	0	C	40050616	G	C	40050616	2	2	308	1	0	0	0	0	0	0	0	1	3358	1277	45	2		2	CHD6	20	40050616	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	3057317	40050616	22974904	286	55259											
RBPJL	11317	broad.mit.edu	37	chr20	43942191	43942191	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cacgctacctctctgtggagGatggggcctttgtggccagt	5	11	14	11	1	1	0	0	0	1	0	2	2	1	2	3	5	1	1	3	5	1	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:43942191G>C	ENST00000343694.3	+	7	775	c.703G>C	c.(703-705)Gat>Cat	p.D235H	RBPJL_ENST00000372743.1_Missense_Mutation_p.D235H|RBPJL_ENST00000372741.3_Missense_Mutation_p.D235H	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	235					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTCTGTGGAGGATGGGGCCTT	0.597													7	15					0	0	0	0	C	43942191	G	C	43942191	3	2	308	1	0	0	0	0	1	0	0	0	13244	1174	41	2	729	2	RBPJL	20	43942191	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	3891575	43942191	19083329	287	55260											
ZNF335	63925	broad.mit.edu	37	chr20	44577711	44577711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcttgggccatggcagcatCagccactgctgccaggggag	7	6	16	12	0	1	0	1	0	0	0	1	1	1	1	3	5	4	4	3	5	0	1			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:44577711C>G	ENST00000322927.2	-	28	4010	c.3910G>C	c.(3910-3912)Gat>Cat	p.D1304H	ZNF335_ENST00000426788.1_Missense_Mutation_p.D1149H	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1304	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ATGGCAGCATCAGCCACTGCT	0.597													6	32					0	0	0	0	G	44577711	C	G	44577711	3	3	308	1	0	0	0	0	1	0	0	0	17947	826	29	2	122	2	ZNF335	20	44577711	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	635520	44577711	18447809	288	55261											
CD40	958	broad.mit.edu	37	chr20	44757575	44757575	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttcccgacgatcttcctGgctccaacactgctgctcca	7	12	6	16	2	1	0	0	0	1	0	5	2	5	0	4	1	3	3	4	1	1	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:44757575G>C	ENST00000372285.3	+	9	802	c.730G>C	c.(730-732)Ggc>Cgc	p.G244R	CD40_ENST00000372276.3_3'UTR|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	244					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CGATCTTCCTGGCTCCAACAC	0.597									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	28					0	0	0	0	C	44757575	G	C	44757575	3	2	308	1	0	0	0	0	1	0	0	0	3044	1348	47	4	764	4	CD40	20	44757575	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	179864	44757575	18267945	289	55262											
ARFGEF2	10564	broad.mit.edu	37	chr20	47633821	47633821	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcgatcaggtacaaattgcTtagaaaacttagtaatatcc	15	11	7	8	2	1	1	1	0	0	1	2	2	2	1	1	1	3	3	1	1	8	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:47633821T>C	ENST00000371917.4	+	32	4351	c.4351T>C	c.(4351-4353)Tta>Cta	p.L1451L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1451					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TACAAATTGCTTAGAAAACTT	0.368													23	32					0	0	0	0	C	47633821	T	C	47633821	2	2	308	1	0	0	0	0	0	0	0	1	855	1606	56	5		5	ARFGEF2	20	47633821	Silent	SNP	T	TCGA-CV-7414-01A-11D-2078-08	2876246	47633821	15391699	290	55263											
ZNF217	7764	broad.mit.edu	37	chr20	52198233	52198233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaagctttgccgcactcgGagcagtgagtgggcttctcc	7	10	13	11	2	1	2	0	2	1	0	3	3	1	3	2	2	3	4	2	2	1	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:52198233G>T	ENST00000371471.2	-	2	1558	c.1133C>A	c.(1132-1134)tCc>tAc	p.S378Y	ZNF217_ENST00000302342.3_Missense_Mutation_p.S378Y			O75362	ZN217_HUMAN	zinc finger protein 217	378					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCCGCACTCGGAGCAGTGAGT	0.607													6	57					0.00198382	0.00200073	1	0	T	52198233	G	T	52198233	3	4	308	1	0	0	0	0	1	0	0	0	17867	1174	41	2	2029	2	ZNF217	20	52198233	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	4564412	52198233	10827287	291	55264											
KRTAP27-1	643812	broad.mit.edu	37	chr21	31709900	31709900	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacacaatctgtcttcaaaGgttataggattagtgccatg	14	12	8	7	0	3	0	1	0	2	0	3	1	3	1	1	2	2	1	1	2	6	4			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr21:31709900G>T	ENST00000382835.2	-	1	112	c.87C>A	c.(85-87)acC>acA	p.T29T		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	29						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TGTCTTCAAAGGTTATAGGAT	0.468													44	99					7.05121e-23	7.42784e-23	1	0	T	31709900	G	T	31709900	2	4	308	1	0	0	0	0	0	0	0	1	8597	987	35	4		4	KRTAP27-1	21	31709900	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08		31709900	16419995	292	55265											
MRAP	56246	broad.mit.edu	37	chr21	33686872	33686872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatttcagctttaacacaGatgaatctcttctgcattca	12	14	5	10	0	4	2	2	1	2	1	5	3	4	2	0	0	3	2	0	0	2	5	rs150983600		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr21:33686872G>T	ENST00000399786.3	+	5	404	c.217G>T	c.(217-219)Gat>Tat	p.D73Y	URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000339944.4_Missense_Mutation_p.D73Y	NM_206898.1	NP_996781.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	0					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						CTTTAACACAGATGAATCTCT	0.448													23	28					3.28513e-13	3.40006e-13	1	0	T	33686872	G	T	33686872	3	4	308	1	0	0	0	0	1	0	0	0	9823	942	33	2	544	2	MRAP	21	33686872	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	1976972	33686872	14443023	293	55266											
TMPRSS3	64699	broad.mit.edu	37	chr21	43795836	43795836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcacccacctccatctgctCgtggatccagtccaggaagg	8	7	10	16	2	1	0	0	0	1	0	5	2	4	2	5	3	1	2	5	3	1	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr21:43795836C>T	ENST00000291532.3	-	12	2291	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	TMPRSS3_ENST00000398405.1_Missense_Mutation_p.E443K|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.E445K|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.E530K	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	446	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TCCATCTGCTCGTGGATCCAG	0.582													37	78					0	0	0	0	T	43795836	C	T	43795836	3	4	308	1	0	0	0	0	1	0	0	0	16342	893	31	1	36	1	TMPRSS3	21	43795836	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08	10108964	43795836	4334059	294	55267											
TMPRSS3	64699	broad.mit.edu	37	chr21	43816189	43816189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacgaaagtacccgagccgtCcggtgcccggtccttccccc	7	6	10	18	5	0	0	0	0	0	0	3	2	3	0	7	2	4	1	7	2	3	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr21:43816189C>T	ENST00000380399.1	-	1	766	c.63G>A	c.(61-63)cgG>cgA	p.R21R	TMPRSS3_ENST00000291532.3_5'UTR|TMPRSS3_ENST00000398397.3_5'UTR			P57727	TMPS3_HUMAN	transmembrane protease, serine 3	0					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CCCGAGCCGTCCGGTGCCCGG	0.527													11	16					0	0	0	0	T	43816189	C	T	43816189	2	4	308	1	0	0	0	0	0	0	0	1	16342	870	30	2		2	TMPRSS3	21	43816189	Silent	SNP	C	TCGA-CV-7414-01A-11D-2078-08	20353	43816189	4313706	295	55268											
ATP6V1E1	529	broad.mit.edu	37	chr22	18083871	18083871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggtacctggagaaccagtCcatccagcagcacttggtac	11	7	11	12	0	0	1	0	0	0	1	2	2	2	1	4	3	5	4	4	3	3	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr22:18083871C>A	ENST00000253413.5	-	5	535	c.353G>T	c.(352-354)gGa>gTa	p.G118V	ATP6V1E1_ENST00000399798.2_Missense_Mutation_p.G96V|ATP6V1E1_ENST00000399796.2_Intron	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	118					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		GAGAACCAGTCCATCCAGCAG	0.403													41	69					3.05275e-18	3.17808e-18	1	0	A	18083871	C	A	18083871	3	1	308	1	0	0	0	0	1	0	0	0	1187	855	30	2	347	2	ATP6V1E1	22	18083871	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08		18083871	33220695	296	55269											
SF3A1	10291	broad.mit.edu	37	chr22	30730681	30730681	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttggaatctttgatgaagaTaccctggaaaacagacagcg	14	9	11	7	1	1	4	0	2	1	2	1	6	1	6	1	2	3	1	1	2	5	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr22:30730681T>C	ENST00000439242.1	-	16	2220	c.2089A>G	c.(2089-2091)Atc>Gtc	p.I697V	SF3A1_ENST00000215793.7_Missense_Mutation_p.I762V	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	762					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TTGATGAAGATACCCTGGAAA	0.537													26	46					0	0	0	0	C	30730681	T	C	30730681	3	2	308	1	0	0	0	0	1	0	0	0	14233	1406	49	5	101	5	SF3A1	22	30730681	Missense_Mutation	SNP	T	TCGA-CV-7414-01A-11D-2078-08	12646810	30730681	20573885	297	55270											
CSF2RB	1439	broad.mit.edu	37	chr22	37334191	37334191	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccggtcccccaggtcaccaAggaacaatcctgtcccccct	8	6	8	19	1	1	0	1	0	0	0	4	1	4	1	8	3	1	0	8	3	3	0			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr22:37334191A>T	ENST00000262825.5	+	14	2576	c.2359A>T	c.(2359-2361)Agg>Tgg	p.R787W	CSF2RB_ENST00000403662.3_Missense_Mutation_p.R781W|CSF2RB_ENST00000536485.1_Missense_Mutation_p.R728W|CSF2RB_ENST00000406230.1_Missense_Mutation_p.R787W	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	781					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CAGGTCACCAAGGAACAATCC	0.652													15	32					0	0	0	0	T	37334191	A	T	37334191	3	4	308	1	0	0	0	0	1	0	0	0	3967	63	3	5	2391	5	CSF2RB	22	37334191	Missense_Mutation	SNP	A	TCGA-CV-7414-01A-11D-2078-08	6603510	37334191	13970375	298	55271											
WNT7B	7477	broad.mit.edu	37	chr22	46319005	46319005	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgtctccatgggcttctGatagctgcgcagctgtttga	5	14	12	10	1	3	2	0	2	3	0	4	2	3	2	1	1	3	5	1	1	1	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr22:46319005G>C	ENST00000339464.4	-	4	1155	c.781C>G	c.(781-783)Cag>Gag	p.Q261E	WNT7B_ENST00000410089.1_Missense_Mutation_p.Q245E|WNT7B_ENST00000409496.3_Missense_Mutation_p.Q265E	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	261					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		ATGGGCTTCTGATAGCTGCGC	0.647													7	62					0	0	0	0	C	46319005	G	C	46319005	3	2	308	1	0	0	0	0	1	0	0	0	17491	1299	45	2	272	2	WNT7B	22	46319005	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	8984814	46319005	4985561	299	55272											
FAM9B	171483	broad.mit.edu	37	chrX	8995923	8995923	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagacctttacgaattggtCacgtagcagcttcatctctt	10	13	7	11	2	3	1	2	0	1	1	4	2	3	1	1	1	3	3	1	1	3	6			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chrX:8995923C>G	ENST00000362066.3	-	6	786	c.598G>C	c.(598-600)Gac>Cac	p.D200H	FAM9B_ENST00000428477.1_Missense_Mutation_p.D160H|FAM9B_ENST00000327220.5_Missense_Mutation_p.D160H			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	160						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				ACGAATTGGTCACGTAGCAGC	0.358													4	30					0	0	0	0	G	8995923	C	G	8995923	3	3	308	1	0	0	0	0	1	0	0	0	5705	826	29	2	90	2	FAM9B	23	8995923	Missense_Mutation	SNP	C	TCGA-CV-7414-01A-11D-2078-08		8995923	146274637	300	55273											
CXorf21	80231	broad.mit.edu	37	chrX	30578057	30578057	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaaaatctgttgtcactGaattaatggccatcacctgg	12	11	10	8	0	3	1	2	1	1	0	3	2	3	2	2	3	0	1	2	3	4	2			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chrX:30578057G>T	ENST00000378962.3	-	3	738	c.416C>A	c.(415-417)tCa>tAa	p.S139*		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	139										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TGTTGTCACTGAATTAATGGC	0.433													36	9					4.23469e-30	4.50094e-30	1	0	T	30578057	G	T	30578057	4	4	308	1	0	0	0	0	0	1	0	0	4133	1294	45	2	493	2	CXorf21	23	30578057	Nonsense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	21582134	30578057	124692503	301	55274											
AR	367	broad.mit.edu	37	chrX	66905872	66905872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacagaagtacctgtgcGccagcagaaatgattgcact	14	7	11	9	1	0	3	0	1	0	2	0	4	0	4	2	1	5	3	2	1	4	2	rs137852569		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chrX:66905872G>A	ENST00000374690.3	+	3	2313	c.1789G>A	c.(1789-1791)Gcc>Acc	p.A597T	AR_ENST00000504326.1_Missense_Mutation_p.A597T|AR_ENST00000396043.2_Missense_Mutation_p.A65T|AR_ENST00000396044.3_Missense_Mutation_p.A597T|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	596	Interaction with HIPK3 (By similarity).		S -> G (in PAIS; high dissociation rate; associated with P-617 in a PAIS patient; partially restores DNA-binding activity of P-617 mutant receptors).|S -> T (in a patient with severe hypospadias).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GTACCTGTGCGCCAGCAGAAA	0.413									Androgen Insensitivity Syndrome				3	33					0	0	0	0	A	66905872	G	A	66905872	3	1	308	1	0	0	0	0	1	0	0	0	838	1087	38	1	1823	1	AR	23	66905872	Missense_Mutation	SNP	G	TCGA-CV-7414-01A-11D-2078-08	36327815	66905872	88364688	302	55275											
KIAA2022	340533	broad.mit.edu	37	chrX	73964209	73964209	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaggcaggagacctctGggatacatcagggtctcttt	9	10	14	8	0	3	2	1	0	2	2	4	4	3	3	1	5	1	2	1	5	2	3			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chrX:73964209G>A	ENST00000373468.1	-	3	834	c.183C>T	c.(181-183)ccC>ccT	p.P61P	KIAA2022_ENST00000055682.5_Silent_p.P61P			Q5QGS0	K2022_HUMAN	KIAA2022	61					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGAGACCTCTGGGATACATCA	0.537													3	9					0	0	0	0	A	73964209	G	A	73964209	2	1	308	1	0	0	0	0	0	0	0	1	8320	1335	47	4		4	KIAA2022	23	73964209	Silent	SNP	G	TCGA-CV-7414-01A-11D-2078-08	7058337	73964209	81306351	303	55276											
PER3	8863	broad.mit.edu	37	chr1	7870006	7870006	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctggggagcagcgggtcGcaggagcagcttgtcagcat	8	6	17	10	2	1	0	1	0	0	0	2	2	1	2	1	4	6	5	1	4	0	1	rs139242507		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:7870006G>T	ENST00000377532.3	+	11	1520	c.1296G>T	c.(1294-1296)tcG>tcT	p.S432S	PER3_ENST00000361923.2_Silent_p.S431S			P56645	PER3_HUMAN	period circadian clock 3	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCGGGTCGCAGGAGCAGC	0.592													11	34					9.70103e-10	2.32132e-09	1	0	T	7870006	G	T	7870006	2	4	309	1	0	0	0	0	0	0	0	1	11802	1074	38	3		3	PER3	1	7870006	Silent	SNP	G	TCGA-CV-7415-01A-11D-2078-08		7870006	241380615	1	55277											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837316	12837316	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgagcccctctcagttctGctggagcaagctgaggccac	7	8	11	15	0	2	2	1	2	2	0	3	3	2	3	4	2	4	4	4	2	1	1			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:12837316G>A	ENST00000357726.4	+	3	1053	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	342								p.L342L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCAGTTCTGCTGGAGCAAG	0.587													16	55					0	0	0	0	A	12837316	G	A	12837316	2	1	309	1	0	0	0	0	0	0	0	1	12504	1306	46	4		4	PRAMEF12	1	12837316	Silent	SNP	G	TCGA-CV-7415-01A-11D-2078-08	4967310	12837316	236413305	2	55278											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855677	12855677	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctctcccagtacccaagcctCggttacctaaagcatctgaa	11	9	6	15	1	2	1	0	1	2	0	4	1	2	1	4	1	4	3	4	1	6	3	rs142654121		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:12855677C>G	ENST00000332296.7	+	4	1060	c.957C>G	c.(955-957)ctC>ctG	p.L319L	PRAMEF1_ENST00000400814.3_Silent_p.L74L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	319										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCAAGCCTCGGTTACCTAA	0.493													23	110					0	0	0	0	G	12855677	C	G	12855677	2	3	309	1	0	0	0	0	0	0	0	1	12501	871	31	3		3	PRAMEF1	1	12855677	Silent	SNP	C	TCGA-CV-7415-01A-11D-2078-08	18361	12855677	236394944	3	55279											
MAGI3	260425	broad.mit.edu	37	chr1	114184803	114184803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctggagcagaatggaaaatCgggacacactttgactggtg	12	9	13	7	1	1	2	0	1	1	1	2	5	1	5	0	4	1	1	0	4	3	1			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:114184803C>T	ENST00000369615.1	+	10	1693	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L	MAGI3_ENST00000369611.4_Missense_Mutation_p.S544L|MAGI3_ENST00000369617.4_Missense_Mutation_p.S569L|MAGI3_ENST00000307546.9_Missense_Mutation_p.S544L	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	569					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGGAAAATCGGGACACACT	0.493													28	79					0	0	0	0	T	114184803	C	T	114184803	3	4	309	1	0	0	0	0	1	0	0	0	9261	893	31	1	1669	1	MAGI3	1	114184803	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	101329126	114184803	135065818	4	55280											
THEM4	117145	broad.mit.edu	37	chr1	151867562	151867562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaacgtttccaggagccgtCttcacatttcttcataaact	11	13	5	12	2	4	0	2	0	2	0	5	1	5	1	2	1	3	1	2	1	3	5			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:151867562C>T	ENST00000368814.3	-	2	557	c.208G>A	c.(208-210)Gac>Aac	p.D70N	THEM4_ENST00000489410.1_Missense_Mutation_p.D70N	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	70					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane				endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGAGCCGTCTTCACATTTC	0.433													4	89					0	0	0	0	T	151867562	C	T	151867562	3	4	309	1	0	0	0	0	1	0	0	0	15952	913	32	2	534	2	THEM4	1	151867562	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	37682759	151867562	97383059	5	55281											
TCHHL1	126637	broad.mit.edu	37	chr1	152058810	152058810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagtctgatctcctccttCtgagcttagatattgtgtct	6	17	9	9	0	4	4	0	3	4	1	6	4	5	4	2	0	1	1	2	0	2	4			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:152058810C>T	ENST00000368806.1	-	3	1412	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	450							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTCCTCCTTCTGAGCTTAGA	0.448													18	192					0	0	0	0	T	152058810	C	T	152058810	3	4	309	1	0	0	0	0	1	0	0	0	15795	922	32	2	1370	2	TCHHL1	1	152058810	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	191248	152058810	97191811	6	55282											
CCDC19	25790	broad.mit.edu	37	chr1	159857775	159857775	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatctccttctgtttcatGatcttctttcgtgtcatcac	6	18	4	13	1	7	1	3	1	4	0	9	1	7	1	2	0	0	1	2	0	0	4			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:159857775G>T	ENST00000426543.2	-	5	644	c.189C>A	c.(187-189)atC>atA	p.I63I	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Silent_p.I148I			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	148						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTGTTTCATGATCTTCTTTC	0.542													29	54					1.55811e-20	3.79612e-20	1	0	T	159857775	G	T	159857775	2	4	309	1	0	0	0	0	0	0	0	1	2821	1280	45	2		2	CCDC19	1	159857775	Silent	SNP	G	TCGA-CV-7415-01A-11D-2078-08	7798965	159857775	89392846	7	55283											
SELE	6401	broad.mit.edu	37	chr1	169701064	169701064	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattcaccgtggccactgcaGgatgtattggtacaggcagc	9	9	12	11	1	1	0	1	0	0	0	1	1	1	1	2	4	3	4	2	4	2	4			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:169701064G>A	ENST00000333360.7	-	4	580	c.441C>T	c.(439-441)tcC>tcT	p.S147S	SELE_ENST00000367776.1_Silent_p.S147S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Silent_p.S147S|SELE_ENST00000367775.1_Silent_p.S147S|SELE_ENST00000367781.4_Silent_p.S147S|SELE_ENST00000461085.1_5'UTR|SELE_ENST00000367774.1_Silent_p.S147S|SELE_ENST00000367779.4_Silent_p.S147S|SELE_ENST00000367782.4_Silent_p.S147S|SELE_ENST00000367777.1_Silent_p.S147S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	147	EGF-like.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GGCCACTGCAGGATGTATTGG	0.438													11	20					0	0	0	0	A	169701064	G	A	169701064	2	1	309	1	0	0	0	0	0	0	0	1	14100	987	35	4		4	SELE	1	169701064	Silent	SNP	G	TCGA-CV-7415-01A-11D-2078-08	9843289	169701064	79549557	8	55284											
RABGAP1L	9910	broad.mit.edu	37	chr1	174606603	174606603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atactggaggagatggtcaaGaatcgctctataagatctgc	13	10	11	7	1	3	3	1	0	2	3	4	5	3	4	0	3	2	1	0	3	5	3			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:174606603G>A	ENST00000251507.4	+	14	1975	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K		NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	601	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AGATGGTCAAGAATCGCTCTA	0.358													16	57					0	0	0	0	A	174606603	G	A	174606603	3	1	309	1	0	0	0	0	1	0	0	0	13047	943	33	2	1851	2	RABGAP1L	1	174606603	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	4905539	174606603	74644018	9	55285											
PRG4	10216	broad.mit.edu	37	chr1	186273956	186273956	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttctgaaaatcaagagtcctCctcctcctcctcctcttcct	7	14	3	17	0	3	2	1	1	2	1	10	2	10	2	7	0	0	0	7	0	3	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:186273956C>G	ENST00000445192.2	+	6	545	c.500C>G	c.(499-501)tCc>tGc	p.S167C	PRG4_ENST00000367483.4_Missense_Mutation_p.S126C|PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_Missense_Mutation_p.S126C	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	167	Ser-rich.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGAGtcctcctcctcctcc	0.353													4	40					0	0	0	0	G	186273956	C	G	186273956	3	3	309	1	0	0	0	0	1	0	0	0	12561	855	30	2	518	2	PRG4	1	186273956	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	11667353	186273956	62976665	10	55286											
CDC73	79577	broad.mit.edu	37	chr1	193104562	193104562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgctcccttagaaataGgtcttcagcgatctactcaa	12	10	8	11	2	4	1	2	0	2	1	5	3	5	1	1	1	3	1	1	1	6	4			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:193104562G>A	ENST00000367435.3	+	4	533	c.349G>A	c.(349-351)Ggt>Agt	p.G117S		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	117					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CTTAGAAATAGGTCTTCAGCG	0.333													23	42					0	0	0	0	A	193104562	G	A	193104562	3	1	309	1	0	0	0	0	1	0	0	0	3114	1000	35	4	363	4	CDC73	1	193104562	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	6830606	193104562	56146059	11	55287											
ASPM	259266	broad.mit.edu	37	chr1	197115445	197115445	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagacctgcagaagtggctGagagacaggaccggcgggga	11	3	19	8	2	0	4	0	1	0	3	0	8	0	6	2	6	1	2	2	6	1	0			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:197115445G>C	ENST00000367409.4	-	1	379	c.123C>G	c.(121-123)ctC>ctG	p.L41L	ASPM_ENST00000294732.7_Silent_p.L41L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	41					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGAAGTGGCTGAGAGACAGGA	0.692													10	50					0	0	0	0	C	197115445	G	C	197115445	2	2	309	1	0	0	0	0	0	0	0	1	1060	1277	45	2		2	ASPM	1	197115445	Silent	SNP	G	TCGA-CV-7415-01A-11D-2078-08	4010883	197115445	52135176	12	55288											
OR2M3	127062	broad.mit.edu	37	chr1	248366902	248366902	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggaaatagcccacttctTctgtgacttcccctccctac	7	12	6	16	1	2	1	0	1	2	0	5	2	4	2	4	1	2	0	4	1	3	5			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:248366902T>C	ENST00000456743.1	+	1	571	c.533T>C	c.(532-534)tTc>tCc	p.F178S		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCCACTTCTTCTGTGACTTC	0.423													38	182					0	0	0	0	C	248366902	T	C	248366902	3	2	309	1	0	0	0	0	1	0	0	0	11082	1783	62	5	535	5	OR2M3	1	248366902	Missense_Mutation	SNP	T	TCGA-CV-7415-01A-11D-2078-08	51251457	248366902	883719	13	55289											
OR2M7	391196	broad.mit.edu	37	chr1	248487479	248487479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctcatgagattggtgtatCttagagggtggcaaatggca	10	12	14	5	0	2	2	1	1	2	2	3	3	2	2	0	4	0	3	0	4	3	3			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:248487479C>G	ENST00000317965.2	-	1	420	c.392G>C	c.(391-393)aGa>aCa	p.R131T		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTGGTGTATCTTAGAGGGTG	0.438													8	241					0	0	0	0	G	248487479	C	G	248487479	3	3	309	1	0	0	0	0	1	0	0	0	11085	913	32	2	549	2	OR2M7	1	248487479	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	120577	248487479	763142	14	55290											
ANKRD36	375248	broad.mit.edu	37	chr2	97808556	97808556	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagaaataaaggatggAcaaaaatctgggacaggtat	18	6	11	6	0	1	1	0	0	1	1	1	4	1	4	1	4	0	1	1	4	6	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:97808556A>G	ENST00000420699.2	+	8	1129	c.885A>G	c.(883-885)ggA>ggG	p.G295G	ANKRD36_ENST00000461153.2_Silent_p.G295G	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	295										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TAAAGGATGGACAAAAATCTG	0.348													2	3					0	0	0	0	G	97808556	A	G	97808556	2	3	309	1	0	0	0	0	0	0	0	1	664	262	10	5		5	ANKRD36	2	97808556	Silent	SNP	A	TCGA-CV-7415-01A-11D-2078-08		97808556	145390817	15	55291											
SLC9A4	389015	broad.mit.edu	37	chr2	103120006	103120006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcccgattcatcgttgtgGggcttggaggggtattgttt	4	15	16	6	2	1	0	1	0	0	0	2	2	1	1	1	5	1	4	1	5	1	6			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:103120006G>A	ENST00000295269.4	+	3	1277	c.820G>A	c.(820-822)Ggg>Agg	p.G274R		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	274					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						CATCGTTGTGGGGCTTGGAGG	0.393													8	46					0	0	0	0	A	103120006	G	A	103120006	3	1	309	1	0	0	0	0	1	0	0	0	14804	1232	43	4	830	4	SLC9A4	2	103120006	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	5311450	103120006	140079367	16	55292											
TTN	7273	broad.mit.edu	37	chr2	179594065	179594065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgccgccttcattggatAcaatgcactggtattcccca	9	11	8	13	1	1	0	1	0	0	0	2	1	2	1	4	2	4	3	4	2	3	5			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:179594065A>G	ENST00000589042.1	-	64	19042	c.18818T>C	c.(18817-18819)gTa>gCa	p.V6273A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V5956A|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V5029A|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5956	Ig-like 44.						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)			TTCATTGGATACAATGCACTG	0.433													11	63					0	0	0	0	G	179594065	A	G	179594065	3	3	309	1	0	0	0	0	1	0	0	0	16831	391	14	5	85907	5	TTN	2	179594065	Missense_Mutation	SNP	A	TCGA-CV-7415-01A-11D-2078-08	76474059	179594065	63605308	17	55293											
NCKAP1	10787	broad.mit.edu	37	chr2	183790481	183790481	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcatggtatgcatttctCagcaagacataaggaaaaca	17	8	8	8	0	1	1	1	0	1	1	2	2	1	2	0	2	4	4	0	2	5	3			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:183790481C>G	ENST00000360982.2	-	32	4112	c.3354G>C	c.(3352-3354)ctG>ctC	p.L1118L	NCKAP1_ENST00000361354.3_Silent_p.L1112L	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1112					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATGCATTTCTCAGCAAGACAT	0.323													7	78					0	0	0	0	G	183790481	C	G	183790481	2	3	309	1	0	0	0	0	0	0	0	1	10291	813	29	2		2	NCKAP1	2	183790481	Silent	SNP	C	TCGA-CV-7415-01A-11D-2078-08	4196416	183790481	59408892	18	55294											
ZNF804A	91752	broad.mit.edu	37	chr2	185800736	185800736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagttggggatcaagccCaggggattcacagacacaaa	15	5	11	10	0	2	1	2	0	0	1	2	3	2	3	2	4	1	1	2	4	3	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:185800736C>A	ENST00000302277.6	+	4	1207	c.613C>A	c.(613-615)Cag>Aag	p.Q205K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	205						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGATCAAGCCCAGGGGATTCA	0.418													23	56					1.96895e-08	4.54895e-08	1	0	A	185800736	C	A	185800736	3	1	309	1	0	0	0	0	1	0	0	0	18263	595	21	4	627	4	ZNF804A	2	185800736	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	2010255	185800736	57398637	19	55295											
COL5A2	1290	broad.mit.edu	37	chr2	189898825	189898825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaactggcccaatttcaaCgccgaattcctggtctgtgc	10	10	8	13	2	2	0	1	0	1	0	3	1	3	0	3	2	3	0	3	2	4	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:189898825C>T	ENST00000374866.3	-	54	4745	c.4471G>A	c.(4471-4473)Gtt>Att	p.V1491I		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1491	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAATTTCAACGCCGAATTCC	0.473													7	51					0	0	0	0	T	189898825	C	T	189898825	3	4	309	1	0	0	0	0	1	0	0	0	3727	536	19	1	32	1	COL5A2	2	189898825	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	4098089	189898825	53300548	20	55296											
MECOM	2122	broad.mit.edu	37	chr3	168838959	168838959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaccgacatgctgagaGcgaatgtgccgctgaaggtt	9	7	15	10	4	0	2	0	2	0	1	0	5	0	2	2	2	3	4	2	2	2	1			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr3:168838959G>A	ENST00000464456.1	-	6	1653	c.453C>T	c.(451-453)cgC>cgT	p.R151R	MECOM_ENST00000468789.1_Silent_p.R151R|MECOM_ENST00000264674.3_Silent_p.R216R|MECOM_ENST00000460814.1_Silent_p.R151R|MECOM_ENST00000433243.2_Silent_p.R152R|MECOM_ENST00000392736.3_Silent_p.R151R|MECOM_ENST00000494292.1_Silent_p.R339R|MECOM_ENST00000472280.1_Silent_p.R152R	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATGCTGAGAGCGAATGTGCC	0.517													39	22					0	0	0	0	A	168838959	G	A	168838959	2	1	309	1	0	0	0	0	0	0	0	1	9491	958	34	4		4	MECOM	3	168838959	Silent	SNP	G	TCGA-CV-7415-01A-11D-2078-08		168838959	29183471	21	55297											
MCF2L2	23101	broad.mit.edu	37	chr3	183017859	183017859	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattttttcttgtttccattGatgaaatcgtcacagaggtg	9	17	8	7	1	2	3	1	2	1	1	4	3	3	3	1	1	0	1	1	1	1	6			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr3:183017859G>A	ENST00000328913.3	-	11	1536	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	MCF2L2_ENST00000447025.2_Silent_p.I413I|MCF2L2_ENST00000414362.2_Silent_p.I413I|MCF2L2_ENST00000473233.1_Silent_p.I413I	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	413					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGTTTCCATTGATGAAATCGT	0.488													17	104					0	0	0	0	A	183017859	G	A	183017859	2	1	309	1	0	0	0	0	0	0	0	1	9449	1280	45	2		2	MCF2L2	3	183017859	Silent	SNP	G	TCGA-CV-7415-01A-11D-2078-08	14178900	183017859	15004571	22	55298											
PAK2	5062	broad.mit.edu	37	chr3	196529909	196529909	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcatgccagaacagtgggctCgattactacagacctccaat	12	8	9	12	1	0	2	0	0	0	2	2	3	1	2	3	1	4	2	3	1	4	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr3:196529909C>G	ENST00000327134.3	+	4	632	c.310C>G	c.(310-312)Cga>Gga	p.R104G		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	104	Autoregulatory region (By similarity).|GTPase-binding (By similarity).				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ACAGTGGGCTCGATTACTACA	0.378													4	90					0	0	0	0	G	196529909	C	G	196529909	3	3	309	1	0	0	0	0	1	0	0	0	11472	876	31	3	320	3	PAK2	3	196529909	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	13512050	196529909	1492521	23	55299											
STX18	53407	broad.mit.edu	37	chr4	4426946	4426946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtcgctgattttcctgttCaaactgtgaggaaacagaca	12	12	9	8	1	1	3	1	2	0	1	3	4	2	4	1	1	2	2	1	1	3	4			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr4:4426946C>T	ENST00000306200.2	-	8	769	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	STX18_ENST00000505286.1_Missense_Mutation_p.E236K	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	236					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		TTTTCCTGTTCAAACTGTGAG	0.448													5	33					0	0	0	0	T	4426946	C	T	4426946	3	4	309	1	0	0	0	0	1	0	0	0	15431	835	29	2	317	2	STX18	4	4426946	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08		4426946	186727330	24	55300											
ANKRD17	26057	broad.mit.edu	37	chr4	73957032	73957032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggttgttgctgattagaatGagctgatgaactcccagaag	12	11	12	6	0	0	6	0	4	0	2	1	6	1	6	1	1	3	4	1	1	4	3			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr4:73957032G>C	ENST00000358602.4	-	29	6429	c.6313C>G	c.(6313-6315)Cat>Gat	p.H2105D	ANKRD17_ENST00000509867.2_Missense_Mutation_p.H1992D|ANKRD17_ENST00000330838.6_Missense_Mutation_p.H1854D	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2105	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATTAGAATGAGCTGATGAA	0.498													11	124					0	0	0	0	C	73957032	G	C	73957032	3	2	309	1	0	0	0	0	1	0	0	0	646	1290	45	2	1522	2	ANKRD17	4	73957032	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	69530086	73957032	117197244	25	55301											
TACR3	6870	broad.mit.edu	37	chr4	104579371	104579371	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cataatagagaattaacttaCgtgaaatgttgtttgggacc	14	13	9	5	1	0	2	0	1	0	1	0	4	0	3	1	1	2	2	1	1	6	6			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr4:104579371C>T	ENST00000304883.2	-	2	878		c.e2+1			NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3							integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AATTAACTTACGTGAAATGTT	0.393													16	50					0	0	0	0	T	104579371	C	T	104579371	5	4	309	1	0	0	0	0	0	0	1	0	15598	550	19	1	675	1	TACR3	4	104579371	Splice_Site	SNP	C	TCGA-CV-7415-01A-11D-2078-08	30622339	104579371	86574905	26	55302											
PCDH10	57575	broad.mit.edu	37	chr4	134072862	134072862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctatcaactctgagaacGgctacttgtacgccctgcgc	8	12	8	13	3	3	1	1	1	2	1	3	2	3	1	1	1	5	2	1	1	5	5			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr4:134072862G>A	ENST00000264360.4	+	1	2393	c.1567G>A	c.(1567-1569)Ggc>Agc	p.G523S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	523	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G523R(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCTGAGAACGGCTACTTGTA	0.602													17	68					0	0	0	0	A	134072862	G	A	134072862	3	1	309	1	0	0	0	0	1	0	0	0	11578	1116	39	1	1569	1	PCDH10	4	134072862	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	29493491	134072862	57081414	27	55303											
FSTL5	56884	broad.mit.edu	37	chr4	163032465	163032465	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgataggatttaaggccAtatcctccttctttggttgg	7	15	11	8	0	1	1	0	1	1	0	3	2	3	2	3	5	0	2	3	5	3	7			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr4:163032465A>G	ENST00000306100.5	-	2	520	c.84T>C	c.(82-84)taT>taC	p.Y28Y	FSTL5_ENST00000536695.1_Silent_p.Y28Y|FSTL5_ENST00000379164.4_Silent_p.Y28Y|FSTL5_ENST00000427802.2_Silent_p.Y28Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	28						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATTTAAGGCCATATCCTCCTT	0.408													14	116					0	0	0	0	G	163032465	A	G	163032465	2	3	309	1	0	0	0	0	0	0	0	1	6128	224	8	5		5	FSTL5	4	163032465	Silent	SNP	A	TCGA-CV-7415-01A-11D-2078-08	28959603	163032465	28121811	28	55304											
FBN2	2201	broad.mit.edu	37	chr5	127595501	127595501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctgtccatgtcgacactCtctaggctgatctgttcaac	7	12	10	12	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	2	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr5:127595501C>T	ENST00000508053.1	-	71	9359	c.8385G>A	c.(8383-8385)gaG>gaA	p.E2795E	FBN2_ENST00000262464.4_Silent_p.E2795E			P35556	FBN2_HUMAN	fibrillin 2	2795					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGTCGACACTCTCTAGGCTGA	0.537													11	68					0	0	0	0	T	127595501	C	T	127595501	2	4	309	1	0	0	0	0	0	0	0	1	5748	912	32	2		2	FBN2	5	127595501	Silent	SNP	C	TCGA-CV-7415-01A-11D-2078-08		127595501	53319759	29	55305											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856119	140856119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgaaattggagattagcGaggccgtggctccggggacg	11	7	16	7	4	0	2	0	1	0	1	1	5	1	3	2	5	1	1	2	5	3	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr5:140856119G>A	ENST00000308177.3	+	1	540	c.436G>A	c.(436-438)Gag>Aag	p.E146K	PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGATTAGCGAGGCCGTGGC	0.547													7	44					0	0	0	0	A	140856119	G	A	140856119	3	1	309	1	0	0	0	0	1	0	0	0	11640	1059	37	1	438	1	PCDHGC3	5	140856119	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	13260618	140856119	40059141	30	55306											
CDHR2	54825	broad.mit.edu	37	chr5	176011455	176011455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgggacgcggaccagacgGaagccaacaaccgcatcagc	12	2	12	15	4	1	1	1	0	0	1	1	4	1	4	4	3	4	1	4	3	3	0			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr5:176011455G>A	ENST00000510636.1	+	19	2447	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	CDHR2_ENST00000261944.5_Missense_Mutation_p.E725K|CDHR2_ENST00000506348.1_Missense_Mutation_p.E725K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	725	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGACCAGACGGAAGCCAACAA	0.637													10	78					0	0	0	0	A	176011455	G	A	176011455	3	1	309	1	0	0	0	0	1	0	0	0	3148	1175	41	2	2243	2	CDHR2	5	176011455	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	35155336	176011455	4903805	31	55307											
F12	2161	broad.mit.edu	37	chr5	176829658	176829658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgctccagggagaggaacgGtacctgcgcctcctgcagga	8	5	15	13	3	0	1	0	0	0	1	2	4	2	3	4	4	4	3	4	4	2	1			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr5:176829658G>A	ENST00000253496.3	-	13	1621	c.1573C>T	c.(1573-1575)Ccg>Tcg	p.P525S	F12_ENST00000514943.1_5'UTR	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	525	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGGAACGGTACCTGCGCC	0.662									Hereditary Angioedema				7	23					0	0	0	0	A	176829658	G	A	176829658	3	1	309	1	0	0	0	0	1	0	0	0	5377	1261	44	4	282	4	F12	5	176829658	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	818203	176829658	4085602	32	55308											
GSTA1	2938	broad.mit.edu	37	chr6	52662432	52662432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agattttataaatttctcttCaaactggaagcagaaacagt	16	13	6	6	0	2	2	1	0	1	2	3	3	2	3	0	1	3	1	0	1	6	5			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr6:52662432C>T	ENST00000334575.5	-	3	246	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	31	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	AATTTCTCTTCAAACTGGAAG	0.368													6	43					0	0	0	0	T	52662432	C	T	52662432	3	4	309	1	0	0	0	0	1	0	0	0	6880	835	29	2	597	2	GSTA1	6	52662432	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08		52662432	118452635	33	55309											
LAMB4	22798	broad.mit.edu	37	chr7	107752371	107752371	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatggaaatctagagtcacaGatgaagcatttttgttcccc	12	13	8	8	0	2	3	1	1	1	2	3	4	3	4	2	1	1	2	2	1	4	5			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr7:107752371G>A	ENST00000388781.3	-	4	296	c.213C>T	c.(211-213)atC>atT	p.I71I	LAMB4_ENST00000205386.4_Silent_p.I71I|LAMB4_ENST00000388780.3_Silent_p.I71I|LAMB4_ENST00000414450.2_Silent_p.I71I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	71	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TAGAGTCACAGATGAAGCATT	0.348													13	86					0	0	0	0	A	107752371	G	A	107752371	2	1	309	1	0	0	0	0	0	0	0	1	8666	932	33	2		2	LAMB4	7	107752371	Silent	SNP	G	TCGA-CV-7415-01A-11D-2078-08		107752371	51386292	34	55310											
THAP5	168451	broad.mit.edu	37	chr7	108204640	108204640	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaacctagttattctataTcatagtgacttcatatgttg	13	17	5	6	0	3	1	2	1	1	0	3	1	3	1	1	0	1	2	1	0	8	10			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr7:108204640T>A	ENST00000415914.3	-	3	1336	c.1183A>T	c.(1183-1185)Ata>Tta	p.I395L	THAP5_ENST00000313516.5_Missense_Mutation_p.I353L	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	395					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TTATTCTATATCATAGTGACT	0.328													14	22					0	0	0	0	A	108204640	T	A	108204640	3	1	309	1	0	0	0	0	1	0	0	0	15941	1435	50	5	8	5	THAP5	7	108204640	Missense_Mutation	SNP	T	TCGA-CV-7415-01A-11D-2078-08	452269	108204640	50934023	35	55311											
PEX2	5828	broad.mit.edu	37	chr8	77895656	77895657	+	Frame_Shift_Ins	INS	-	-	A																															cacatcctatggtgtgaggcINSatggtgggccactctccaca																										TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr8:77895656_77895657insA	ENST00000419564.2	-	4	1222_1223	c.758_759insT	c.(757-759)accfs	p.T253fs	PEX2_ENST00000357039.4_Frame_Shift_Ins_p.T253fs|PEX2_ENST00000520103.1_Frame_Shift_Ins_p.T253fs|PEX2_ENST00000522527.1_Frame_Shift_Ins_p.T253fs	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	253					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						TGGTGTGAGGCATGGTGGGCCA	0.436													51	72	---	---	---	---					A	77895657	-	A	77895656	7	5	309	1	0	1	1	0	0	0	0	0	11817	710	25	0	162	0	PEX2	8	77895656	Frame_Shift_Ins	INS	-	TCGA-CV-7415-01A-11D-2078-08		77895656	68468366	36	55312											
PKHD1L1	93035	broad.mit.edu	37	chr8	110448632	110448632	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggtattagttggaaatGaaacctgcaatgtgattgaa	16	11	10	4	0	0	3	0	3	0	0	0	4	0	4	1	2	2	3	1	2	7	4			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr8:110448632G>T	ENST00000378402.5	+	30	3675	c.3571G>T	c.(3571-3573)Gaa>Taa	p.E1191*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1191	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTTGGAAATGAAACCTGCAA	0.358										HNSCC(38;0.096)			22	36					7.41877e-09	1.74406e-08	1	0	T	110448632	G	T	110448632	4	4	309	1	0	0	0	0	0	1	0	0	12044	1291	45	2	3689	2	PKHD1L1	8	110448632	Nonsense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	32552976	110448632	35915390	37	55313											
PRUNE2	158471	broad.mit.edu	37	chr9	79321541	79321541	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtcactaaaaggattagtAtagtgtgtttccacgggctc	10	14	10	7	1	1	0	1	0	0	0	3	1	2	1	1	2	0	3	1	2	5	6			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr9:79321541A>G	ENST00000428286.1	-	8	5772	c.4572T>C	c.(4570-4572)taT>taC	p.Y1524Y	PRUNE2_ENST00000376718.3_Silent_p.Y1883Y			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1883					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGGATTAGTATAGTGTGTTT	0.473													17	14					0	0	0	0	G	79321541	A	G	79321541	2	3	309	1	0	0	0	0	0	0	0	1	12720	456	16	5		5	PRUNE2	9	79321541	Silent	SNP	A	TCGA-CV-7415-01A-11D-2078-08		79321541	61891890	38	55314											
TLE4	7091	broad.mit.edu	37	chr9	82334979	82334979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacagggataactacatcCgttcctgcagattgctccct	11	10	8	12	1	0	2	0	0	0	2	3	3	3	3	3	1	5	3	3	1	3	4			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr9:82334979C>T	ENST00000376520.4	+	17	2533	c.1705C>T	c.(1705-1707)Cgt>Tgt	p.R569C	TLE4_ENST00000376552.2_Missense_Mutation_p.R537C|TLE4_ENST00000376534.4_Missense_Mutation_p.R174C|TLE4_ENST00000376537.4_Missense_Mutation_p.R569C|TLE4_ENST00000376544.3_Missense_Mutation_p.R468C|TLE4_ENST00000265284.6_Missense_Mutation_p.R512C			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TAACTACATCCGTTCCTGCAG	0.463													8	42					0	0	0	0	T	82334979	C	T	82334979	3	4	309	1	0	0	0	0	1	0	0	0	16035	652	23	1	1671	1	TLE4	9	82334979	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	3013438	82334979	58878452	39	55315											
FBXO18	84893	broad.mit.edu	37	chr10	5948405	5948405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaagatgctggggacgtggGtcctgatcccattcctgact	7	10	12	12	1	0	3	0	2	0	1	3	4	3	4	4	3	1	1	4	3	1	1			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:5948405G>A	ENST00000379999.5	+	4	820	c.716G>A	c.(715-717)gGt>gAt	p.G239D	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.G188D	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	188					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGGGACGTGGGTCCTGATCCC	0.587													5	19					0	0	0	0	A	5948405	G	A	5948405	3	1	309	1	0	0	0	0	1	0	0	0	5776	1261	44	4	735	4	FBXO18	10	5948405	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08		5948405	129586342	40	55316											
APBB1IP	54518	broad.mit.edu	37	chr10	26785285	26785285	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaatccacccagagctgAatttaactacagtgtggggt	11	10	9	11	0	0	2	0	1	0	1	1	2	1	2	3	2	3	1	3	2	4	4			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:26785285A>T	ENST00000376236.4	+	4	580	c.125A>T	c.(124-126)gAa>gTa	p.E42V	APBB1IP_ENST00000356785.4_Missense_Mutation_p.E42V	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	42					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CCCAGAGCTGAATTTAACTAC	0.343													18	56					0	0	0	0	T	26785285	A	T	26785285	3	4	309	1	0	0	0	0	1	0	0	0	761	246	9	5	131	5	APBB1IP	10	26785285	Missense_Mutation	SNP	A	TCGA-CV-7415-01A-11D-2078-08	20836880	26785285	108749462	41	55317											
PARD3	56288	broad.mit.edu	37	chr10	34408630	34408630	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcacctccacggacacCgagtgtcgcccgctctgcgt	6	8	10	17	5	2	0	0	0	2	0	4	2	3	1	4	1	2	2	4	1	0	0			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:34408630C>T	ENST00000374789.3	-	24	3913	c.3588G>A	c.(3586-3588)tcG>tcA	p.S1196S	PARD3_ENST00000374794.3_Silent_p.S1084S|PARD3_ENST00000374790.3_Silent_p.S1136S|PARD3_ENST00000346874.4_Silent_p.S1159S|PARD3_ENST00000350537.4_Silent_p.S1150S|PARD3_ENST00000374788.3_Silent_p.S1193S|PARD3_ENST00000545693.1_Silent_p.S1180S|PARD3_ENST00000545260.1_Silent_p.S1106S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1196					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CCACGGACACCGAGTGTCGCC	0.617													5	11					0	0	0	0	T	34408630	C	T	34408630	2	4	309	1	0	0	0	0	0	0	0	1	11514	639	23	1		1	PARD3	10	34408630	Silent	SNP	C	TCGA-CV-7415-01A-11D-2078-08	7623345	34408630	101126117	42	55318											
ANK3	288	broad.mit.edu	37	chr10	61900111	61900111	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaactcaaagatcttactCtgcggtaaagccatttccac	13	11	5	12	1	3	1	1	0	2	1	4	1	4	1	2	1	5	1	2	1	6	4			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:61900111C>G	ENST00000355288.2	-	1	663	c.16_splice	c.e1+1	p.Q5_splice	ANK3_ENST00000460468.1_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000280772.1_Intron|ANK3_ENST00000373827.2_Intron	NM_001149.3	NP_001140.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	871					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGATCTTACTCTGCGGTAAAG	0.388													19	82					0	0	0	0	G	61900111	C	G	61900111	5	3	309	1	0	0	0	0	0	0	1	0	622	927	32	2	10917	2	ANK3	10	61900111	Splice_Site	SNP	C	TCGA-CV-7415-01A-11D-2078-08	27491481	61900111	73634636	43	55319											
JMJD1C	221037	broad.mit.edu	37	chr10	64974590	64974590	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagacttccgcttctctGcttcttcatgttttttatct	6	19	4	12	1	4	1	1	0	3	1	6	1	5	1	1	0	2	3	1	0	2	7			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:64974590G>C	ENST00000399262.2	-	8	1555	c.1337C>G	c.(1336-1338)gCa>gGa	p.A446G	JMJD1C_ENST00000399251.1_Missense_Mutation_p.A227G|JMJD1C_ENST00000542921.1_Missense_Mutation_p.A264G|JMJD1C_ENST00000402544.1_Missense_Mutation_p.A227G	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	446					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCGCTTCTCTGCTTCTTCATG	0.388													29	42					0	0	0	0	C	64974590	G	C	64974590	3	2	309	1	0	0	0	0	1	0	0	0	8003	1319	46	4	6361	4	JMJD1C	10	64974590	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	3074479	64974590	70560157	44	55320											
CTNNA3	29119	broad.mit.edu	37	chr10	67726429	67726429	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctttaacttgactgcagaTtttcagttggtgggagtaga	10	14	12	5	0	1	3	1	1	0	2	1	4	1	4	0	2	3	4	0	2	2	7			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:67726429T>A	ENST00000433211.1	-	17	2515	c.2341A>T	c.(2341-2343)Atc>Ttc	p.I781F	CTNNA3_ENST00000373735.1_Missense_Mutation_p.I120F|CTNNA3_ENST00000373744.4_Missense_Mutation_p.I781F	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	781					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGACTGCAGATTTTCAGTTGG	0.428													14	46					0	0	0	0	A	67726429	T	A	67726429	3	1	309	1	0	0	0	0	1	0	0	0	4046	1493	52	5	354	5	CTNNA3	10	67726429	Missense_Mutation	SNP	T	TCGA-CV-7415-01A-11D-2078-08	2751839	67726429	67808318	45	55321											
GRID1	2894	broad.mit.edu	37	chr10	87614310	87614310	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgccaaggatttcaaactgGacatagggattcgaactgtc	12	10	11	8	1	1	0	1	0	0	0	3	4	1	3	1	3	3	0	1	3	4	3			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:87614310G>C	ENST00000327946.7	-	8	1261	c.1176C>G	c.(1174-1176)gtC>gtG	p.V392V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	392						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TTTCAAACTGGACATAGGGAT	0.498										Multiple Myeloma(13;0.14)			10	34					0	0	0	0	C	87614310	G	C	87614310	2	2	309	1	0	0	0	0	0	0	0	1	6821	1161	41	2		2	GRID1	10	87614310	Silent	SNP	G	TCGA-CV-7415-01A-11D-2078-08	19887881	87614310	47920437	46	55322											
WAPAL	23063	broad.mit.edu	37	chr10	88259533	88259533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgctttctgggggaggCtgcaaggagggtgatggagc	7	10	18	6	0	2	1	1	1	1	0	2	4	2	4	0	6	3	3	0	6	1	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:88259533C>T	ENST00000298767.5	-	3	1939	c.1467G>A	c.(1465-1467)caG>caA	p.Q489Q		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	489	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTGGGGGAGGCTGCAAGGAGG	0.383													18	63					0	0	0	0	T	88259533	C	T	88259533	2	4	309	1	0	0	0	0	0	0	0	1	17344	796	28	4		4	WAPAL	10	88259533	Silent	SNP	C	TCGA-CV-7415-01A-11D-2078-08	645223	88259533	47275214	47	55323											
HPS6	79803	broad.mit.edu	37	chr10	103826369	103826369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcttcgtctgctttcaGccttgggtctgttttgtgtg	3	18	12	8	1	4	0	1	0	3	0	5	1	4	1	1	2	2	2	1	2	1	5			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:103826369G>A	ENST00000299238.5	+	1	1223	c.1138G>A	c.(1138-1140)Gcc>Acc	p.A380T		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	380						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TCTGCTTTCAGCCTTGGGTCT	0.582									Hermansky-Pudlak syndrome				5	39					0	0	0	0	A	103826369	G	A	103826369	3	1	309	1	0	0	0	0	1	0	0	0	7393	971	34	4	1140	4	HPS6	10	103826369	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	15566836	103826369	31708378	48	55324											
TAF5	6877	broad.mit.edu	37	chr10	105133180	105133180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagcctacaaccaacaaGgagatcccacaatgtatgaa	16	7	7	11	0	1	2	1	1	0	1	2	3	2	2	3	1	4	1	3	1	7	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:105133180G>A	ENST00000369839.3	+	2	648	c.625G>A	c.(625-627)Gga>Aga	p.G209R	TAF5_ENST00000351396.4_Missense_Mutation_p.G209R	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	209					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CAACCAACAAGGAGATCCCAC	0.413													8	87					0	0	0	0	A	105133180	G	A	105133180	3	1	309	1	0	0	0	0	1	0	0	0	15619	1001	35	4	631	4	TAF5	10	105133180	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	1306811	105133180	30401567	49	55325											
APBB1	322	broad.mit.edu	37	chr11	6425033	6425033	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggaatccgtctcgaaggcGttggggttccagaaggaatc	9	9	14	9	4	1	1	0	0	1	1	6	4	3	3	2	5	0	2	2	5	4	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr11:6425033G>A	ENST00000533407.1	-	0	106				APBB1_ENST00000311051.3_Silent_p.N247N|APBB1_ENST00000389906.2_Silent_p.N247N|APBB1_ENST00000299402.6_Silent_p.N247N|APBB1_ENST00000530885.1_Silent_p.N27N	NM_001257322.1|NM_001257324.1	NP_001244251.1|NP_001244253.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCTCGAAGGCGTTGGGGTTCC	0.617													17	14					0	0	0	0	A	6425033	G	A	6425033	1	1	309	1	0	0	0	0	0	0	0	0	760	1136	40	1		1	APBB1	11	6425033	Translation_Start_Site	SNP	G	TCGA-CV-7415-01A-11D-2078-08		6425033	128581483	50	55326											
GALNT8	26290	broad.mit.edu	37	chr12	4855415	4855415	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggagagaacgtggagctTagcctgagggtgggtacatt	10	8	18	5	1	0	2	0	1	0	1	0	6	0	5	1	5	4	2	1	5	3	3			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr12:4855415T>C	ENST00000252318.2	+	6	1501	c.1164T>C	c.(1162-1164)ctT>ctC	p.L388L		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	388	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACGTGGAGCTTAGCCTGAGGG	0.498													4	45					0	0	0	0	C	4855415	T	C	4855415	2	2	309	1	0	0	0	0	0	0	0	1	6268	1741	61	5		5	GALNT8	12	4855415	Silent	SNP	T	TCGA-CV-7415-01A-11D-2078-08		4855415	128996480	51	55327											
CD163L1	283316	broad.mit.edu	37	chr12	7559320	7559320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcccaactgcttgcataCgacatcagctgcagcattgt	11	10	7	13	1	1	0	1	0	0	0	2	1	2	0	1	0	7	5	1	0	2	3			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr12:7559320C>T	ENST00000313599.3	-	5	952	c.895G>A	c.(895-897)Gta>Ata	p.V299I	CD163L1_ENST00000416109.2_Missense_Mutation_p.V309I|CD163L1_ENST00000396630.1_Missense_Mutation_p.V299I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	299	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCTTGCATACGACATCAGCT	0.522													22	55					0	0	0	0	T	7559320	C	T	7559320	3	4	309	1	0	0	0	0	1	0	0	0	2997	536	19	1	3526	1	CD163L1	12	7559320	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	2703905	7559320	126292575	52	55328											
BRAP	8315	broad.mit.edu	37	chr12	112082288	112082288	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaggacttggttggcTcgcaaacacttgttcatttc	8	13	11	9	1	1	0	1	0	0	0	3	2	1	2	0	4	2	5	0	4	1	5			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr12:112082288T>C	ENST00000419234.4	-	12	1687	c.1494A>G	c.(1492-1494)cgA>cgG	p.R498R	BRAP_ENST00000539060.1_Silent_p.R319R|BRAP_ENST00000327551.6_Silent_p.R468R	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	498					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CTTGGTTGGCTCGCAAACACT	0.483													20	78					0	0	0	0	C	112082288	T	C	112082288	2	2	309	1	0	0	0	0	0	0	0	1	1505	1538	54	5		5	BRAP	12	112082288	Silent	SNP	T	TCGA-CV-7415-01A-11D-2078-08	104522968	112082288	21769607	53	55329											
RPLP0	6175	broad.mit.edu	37	chr12	120636708	120636708	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtggtgatacctaaagcctgGaaaaaggaggtcttctcggg	11	9	14	7	1	2	1	0	1	2	0	3	3	2	3	2	5	2	0	2	5	5	3			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr12:120636708G>C	ENST00000551150.1	-	4	729	c.414C>G	c.(412-414)ttC>ttG	p.F138L	RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000313104.5_Missense_Mutation_p.F138L|RPLP0_ENST00000228306.4_Missense_Mutation_p.F138L|RPLP0_ENST00000546989.1_Missense_Mutation_p.F138L|RPLP0_ENST00000392514.4_Missense_Mutation_p.F138L			P05388	RLA0_HUMAN	ribosomal protein, large, P0	138					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAAAGCCTGGAAAAAGGAGG	0.567													6	18					0	0	0	0	C	120636708	G	C	120636708	3	2	309	1	0	0	0	0	1	0	0	0	13689	1165	41	2	555	2	RPLP0	12	120636708	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	8554420	120636708	13215187	54	55330											
SBNO1	55206	broad.mit.edu	37	chr12	123812541	123812541	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagaaccaacaggacataAgtttttggctttatgacact	14	12	8	7	0	0	3	0	2	0	1	0	4	0	4	1	2	2	2	1	2	5	5			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr12:123812541A>C	ENST00000420886.2	-	10	1329	c.1330T>G	c.(1330-1332)Tta>Gta	p.L444V	SBNO1_ENST00000602750.1_Missense_Mutation_p.L443V|SBNO1_ENST00000602398.1_Missense_Mutation_p.L444V|SBNO1_ENST00000267176.4_Missense_Mutation_p.L443V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	444							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACAGGACATAAGTTTTTGGCT	0.368													14	70					0	0	0	0	C	123812541	A	C	123812541	3	2	309	1	0	0	0	0	1	0	0	0	13948	69	3	5	2939	5	SBNO1	12	123812541	Missense_Mutation	SNP	A	TCGA-CV-7415-01A-11D-2078-08	3175833	123812541	10039354	55	55331											
MTUS2	23281	broad.mit.edu	37	chr13	29599504	29599504	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagacattgccagaccaCgctgtcccggcagctttccc	9	7	9	16	2	0	3	0	0	0	3	2	3	2	3	4	1	2	3	4	1	1	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr13:29599504C>T	ENST00000431530.3	+	1	757	c.699C>T	c.(697-699)caC>caT	p.H233H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	223						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGCCAGACCACGCTGTCCCGG	0.587													6	9					0	0	0	0	T	29599504	C	T	29599504	2	4	309	1	0	0	0	0	0	0	0	1	10036	535	19	1		1	MTUS2	13	29599504	Silent	SNP	C	TCGA-CV-7415-01A-11D-2078-08		29599504	85570374	56	55332											
MYO16	23026	broad.mit.edu	37	chr13	109318469	109318469	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacggacatgctacaggaCgcgattatccaccacaatga	13	7	8	13	3	1	1	1	1	0	0	2	4	2	3	2	2	2	1	2	2	3	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr13:109318469C>T	ENST00000356711.2	+	2	324	c.198C>T	c.(196-198)gaC>gaT	p.D66D	MYO16_ENST00000357550.2_Silent_p.D66D|MYO16_ENST00000251041.5_Silent_p.D66D	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	66					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGCTACAGGACGCGATTATCC	0.428													4	16					0	0	0	0	T	109318469	C	T	109318469	2	4	309	1	0	0	0	0	0	0	0	1	10134	535	19	1		1	MYO16	13	109318469	Silent	SNP	C	TCGA-CV-7415-01A-11D-2078-08	79718965	109318469	5851409	57	55333											
MMP14	4323	broad.mit.edu	37	chr14	23313687	23313687	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatcaacactgcctacgaGaggaaggatggcaaattcgt	13	8	10	10	2	1	1	1	0	0	1	3	4	2	3	2	3	3	1	2	3	4	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr14:23313687G>C	ENST00000311852.6	+	7	1380	c.1119G>C	c.(1117-1119)gaG>gaC	p.E373D	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	373	Hemopexin-like 2.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CTGCCTACGAGAGGAAGGATG	0.537													15	170					0	0	0	0	C	23313687	G	C	23313687	3	2	309	1	0	0	0	0	1	0	0	0	9722	933	33	2	1145	2	MMP14	14	23313687	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08		23313687	84035853	58	55334											
HECTD1	25831	broad.mit.edu	37	chr14	31619322	31619322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taattccaaggctgctgcatCactccaaatatataagcagt	14	11	6	10	0	1	0	1	0	0	0	3	0	3	0	2	1	3	4	2	1	6	5			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr14:31619322C>T	ENST00000399332.1	-	13	2526	c.2038G>A	c.(2038-2040)Gat>Aat	p.D680N	HECTD1_ENST00000553700.1_Missense_Mutation_p.D680N	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	680					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCTGCTGCATCACTCCAAATA	0.418													19	147					0	0	0	0	T	31619322	C	T	31619322	3	4	309	1	0	0	0	0	1	0	0	0	7089	826	29	2	5918	2	HECTD1	14	31619322	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	8305635	31619322	75730218	59	55335											
BAZ1A	11177	broad.mit.edu	37	chr14	35343736	35343736	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgttggtgactttacagtaGaaaacttcctcgtcgggccg	8	12	11	10	4	0	2	0	1	0	1	4	2	1	2	2	2	2	2	2	2	4	5			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr14:35343736G>C	ENST00000360310.1	-	2	642	c.75C>G	c.(73-75)ttC>ttG	p.F25L	BAZ1A_ENST00000382422.2_Missense_Mutation_p.F25L|RP11-73E17.2_ENST00000557373.1_RNA|BAZ1A_ENST00000358716.4_Missense_Mutation_p.F25L	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	25	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CTTTACAGTAGAAAACTTCCT	0.667													4	58					0	0	0	0	C	35343736	G	C	35343736	3	2	309	1	0	0	0	0	1	0	0	0	1333	933	33	2	4699	2	BAZ1A	14	35343736	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	3724414	35343736	72005804	60	55336											
MDGA2	161357	broad.mit.edu	37	chr14	47530684	47530684	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctcctcagaaggaacagcTtctacttggcaagatatttt	12	12	8	9	0	2	2	1	0	1	2	3	3	3	3	1	2	4	3	1	2	5	6			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr14:47530684T>A	ENST00000426342.1	-	7	1145	c.399A>T	c.(397-399)gaA>gaT	p.E133D	MDGA2_ENST00000357362.3_Missense_Mutation_p.E133D|MDGA2_ENST00000439988.2_Missense_Mutation_p.E362D|MDGA2_ENST00000399232.2_Missense_Mutation_p.E431D	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	362					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAGGAACAGCTTCTACTTGGC	0.403													40	64					0	0	0	0	A	47530684	T	A	47530684	3	1	309	1	0	0	0	0	1	0	0	0	9476	1606	56	5	1828	5	MDGA2	14	47530684	Missense_Mutation	SNP	T	TCGA-CV-7415-01A-11D-2078-08	12186948	47530684	59818856	61	55337											
DUOX1	53905	broad.mit.edu	37	chr15	45437213	45437213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagcaggagctgatgagaGcagctgtgacacgggagcag	11	4	19	7	1	0	3	0	3	0	1	0	7	0	6	0	3	5	5	0	3	0	0			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr15:45437213G>T	ENST00000321429.4	+	19	2664	c.2257G>T	c.(2257-2259)Gca>Tca	p.A753S	DUOX1_ENST00000389037.3_Missense_Mutation_p.A753S|DUOX1_ENST00000561166.1_Missense_Mutation_p.A399S	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	753					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCTGATGAGAGCAGCTGTGAC	0.592													7	61					5.18039e-06	1.17656e-05	1	0	T	45437213	G	T	45437213	3	4	309	1	0	0	0	0	1	0	0	0	4836	971	34	4	2323	4	DUOX1	15	45437213	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08		45437213	57094179	62	55338											
BLM	641	broad.mit.edu	37	chr15	91312807	91312807	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactcagctgaagattctcaGacctcaggtgtaagttgttg	10	12	11	8	0	3	3	3	1	1	2	4	4	3	3	1	1	1	4	1	1	2	4			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr15:91312807G>C	ENST00000355112.3	+	12	2664	c.2546G>C	c.(2545-2547)aGa>aCa	p.R849T	BLM_ENST00000560509.1_Missense_Mutation_p.R849T|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	849	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAGATTCTCAGACCTCAGGTG	0.517			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				4	27					0	0	0	0	C	91312807	G	C	91312807	3	2	309	1	0	0	0	0	1	0	0	0	1450	942	33	2	2588	2	BLM	15	91312807	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	45875594	91312807	11218585	63	55339											
MSLN	10232	broad.mit.edu	37	chr16	816458	816458	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccctgaaggctttgcttGaagtcaacaaagggcacgaa	14	7	11	9	1	1	3	1	2	0	1	1	4	1	3	1	2	2	3	1	2	5	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr16:816458G>C	ENST00000566549.1	+	12	1615	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q	MSLN_ENST00000382862.3_Missense_Mutation_p.E400Q|MSLN_ENST00000563941.1_Missense_Mutation_p.E400Q|MSLN_ENST00000545450.2_Missense_Mutation_p.E400Q			Q13421	MSLN_HUMAN	mesothelin	400					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGCTTTGCTTGAAGTCAACAA	0.572													10	62					0	0	0	0	C	816458	G	C	816458	3	2	309	1	0	0	0	0	1	0	0	0	9951	1291	45	2	1240	2	MSLN	16	816458	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08		816458	89538295	64	55340											
SETD6	79918	broad.mit.edu	37	chr16	58550236	58550236	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagctgggccgcttggagcaCccgatgttctggtgagagcc	6	8	16	11	2	1	1	0	1	1	1	1	5	1	2	3	3	3	4	3	3	0	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr16:58550236C>T	ENST00000394266.4	+	4	449	c.393C>T	c.(391-393)caC>caT	p.H131H	SETD6_ENST00000219315.4_Silent_p.H155H|SETD6_ENST00000310682.2_Silent_p.H131H|SETD6_ENST00000418480.1_3'UTR			Q8TBK2	SETD6_HUMAN	SET domain containing 6	155	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GCTTGGAGCACCCGATGTTCT	0.672													5	34					0	0	0	0	T	58550236	C	T	58550236	2	4	309	1	0	0	0	0	0	0	0	1	14222	506	18	4		4	SETD6	16	58550236	Silent	SNP	C	TCGA-CV-7415-01A-11D-2078-08	57733778	58550236	31804517	65	55341											
DHODH	1723	broad.mit.edu	37	chr16	72046004	72046004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaggacttctcttcgcctCctacctgatggccacgggag	7	9	12	13	2	1	1	0	1	1	0	4	4	2	4	4	4	1	0	4	4	1	3			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr16:72046004C>A	ENST00000572887.1	+	2	254	c.77C>A	c.(76-78)tCc>tAc	p.S26Y	DHODH_ENST00000219240.4_Missense_Mutation_p.S26Y			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	26					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CTCTTCGCCTCCTACCTGATG	0.602													16	105					1.3612e-06	3.11797e-06	1	0	A	72046004	C	A	72046004	3	1	309	1	0	0	0	0	1	0	0	0	4521	855	30	2	83	2	DHODH	16	72046004	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	13495768	72046004	18308749	66	55342											
CDT1	81620	broad.mit.edu	37	chr16	88873832	88873832	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgaacgcaagcctgcgctCagcatggaggtggcctgtgc	7	7	14	13	3	1	0	1	0	0	0	2	2	2	1	3	3	5	3	3	3	2	0			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr16:88873832C>G	ENST00000301019.4	+	9	2038	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	473					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		AGCCTGCGCTCAGCATGGAGG	0.657													5	47					0	0	0	0	G	88873832	C	G	88873832	2	3	309	1	0	0	0	0	0	0	0	1	3209	813	29	2		2	CDT1	16	88873832	Silent	SNP	C	TCGA-CV-7415-01A-11D-2078-08	16827828	88873832	1480921	67	55343											
ALOX12	239	broad.mit.edu	37	chr17	6909233	6909233	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccgtcgggcggcagctcaGctgacctactgctccctctg	4	9	11	17	3	2	1	1	1	1	0	5	1	4	1	3	2	4	4	3	2	1	1	rs114312186	byFrequency	TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:6909233G>A	ENST00000251535.6	+	10	1358	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q	AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000573939.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	435	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CGGCAGCTCAGCTGACCTACT	0.632													3	27					0	0	0	0	A	6909233	G	A	6909233	2	1	309	1	0	0	0	0	0	0	0	1	536	962	34	4		4	ALOX12	17	6909233	Silent	SNP	G	TCGA-CV-7415-01A-11D-2078-08		6909233	74285977	68	55344											
TP53	7157	broad.mit.edu	37	chr17	7578532	7578532	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggccagttggcaaaacAtcttgttgagggcaggggag	9	10	15	7	0	2	1	0	1	2	0	2	2	2	2	1	5	1	4	1	5	2	4	rs28934873		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:7578532A>T	ENST00000420246.2	-	5	530	c.398T>A	c.(397-399)aTg>aAg	p.M133K	TP53_ENST00000269305.4_Missense_Mutation_p.M133K|TP53_ENST00000445888.2_Missense_Mutation_p.M133K|TP53_ENST00000455263.2_Missense_Mutation_p.M133K|TP53_ENST00000413465.2_Missense_Mutation_p.M133K|TP53_ENST00000359597.4_Missense_Mutation_p.M133K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	133	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		KM -> NL (in a sporadic cancer; somatic mutation).|M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934873).|M -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M133K(12)|p.0?(8)|p.M133R(5)|p.N131fs*27(2)|p.M133T(2)|p.V73fs*9(1)|p.M133fs*37(1)|p.S127fs*36(1)|p.Y126fs*11(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGGCAAAACATCTTGTTGAG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	12					0	0	0	0	T	7578532	A	T	7578532	3	4	309	1	0	0	0	0	1	0	0	0	16476	217	8	5	900	5	TP53	17	7578532	Missense_Mutation	SNP	A	TCGA-CV-7415-01A-11D-2078-08	669299	7578532	73616678	69	55345											
STX8	9482	broad.mit.edu	37	chr17	9448488	9448488	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtaaataaaaacatcctaCctgattagatctggttcggc	13	12	7	9	1	1	2	0	1	1	1	3	2	2	2	2	2	2	2	2	2	7	5			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:9448488C>T	ENST00000306357.3	-	4	751		c.e4+1		STX8_ENST00000574431.1_Splice_Site	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8						transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						AAACATCCTACCTGATTAGAT	0.418													5	36					0	0	0	0	T	9448488	C	T	9448488	5	4	309	1	0	0	0	0	0	0	1	0	15441	521	18	4	406	4	STX8	17	9448488	Splice_Site	SNP	C	TCGA-CV-7415-01A-11D-2078-08	1869956	9448488	71746722	70	55346											
DNAH9	1770	broad.mit.edu	37	chr17	11511572	11511572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttatacttgagcaagtgaagGgaaaaactttgctgcctctt	12	13	9	7	0	1	2	0	2	1	0	1	3	1	3	1	1	5	2	1	1	6	5			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:11511572G>A	ENST00000262442.3	+	2	612	c.544G>A	c.(544-546)Gga>Aga	p.G182R	DNAH9_ENST00000454412.2_Missense_Mutation_p.G182R|DNAH9_ENST00000579828.1_Missense_Mutation_p.G182R|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	182	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAAGTGAAGGGAAAAACTTT	0.512													10	118					0	0	0	0	A	11511572	G	A	11511572	3	1	309	1	0	0	0	0	1	0	0	0	4644	1233	43	4	550	4	DNAH9	17	11511572	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	2063084	11511572	69683638	71	55347											
CNP	1267	broad.mit.edu	37	chr17	40125676	40125676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgcccacatcaccctcGgctgtgcagctgacgtagag	7	6	12	16	4	1	2	1	1	0	1	2	2	1	2	3	1	2	4	3	1	1	1			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:40125676G>A	ENST00000393892.2	+	4	1144	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S	CNP_ENST00000472031.1_3'UTR|CNP_ENST00000393888.1_Missense_Mutation_p.G314S|CNP_ENST00000591072.1_Missense_Mutation_p.G99S	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	334					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CATCACCCTCGGCTGTGCAGC	0.647													7	38					0	0	0	0	A	40125676	G	A	40125676	3	1	309	1	0	0	0	0	1	0	0	0	3656	1116	39	1	1014	1	CNP	17	40125676	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	28614104	40125676	41069534	72	55348											
NMT1	4836	broad.mit.edu	37	chr17	43175850	43175850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagatcaccaggcgggttCacctggagggcatcttccaa	10	7	13	11	1	3	1	2	0	1	1	4	4	4	2	3	4	0	2	3	4	1	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:43175850C>T	ENST00000592782.1	+	8	945	c.814C>T	c.(814-816)Cac>Tac	p.H272Y	NMT1_ENST00000258960.2_Missense_Mutation_p.H272Y			P30419	NMT1_HUMAN	N-myristoyltransferase 1	272					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CAGGCGGGTTCACCTGGAGGG	0.527													11	100					0	0	0	0	T	43175850	C	T	43175850	3	4	309	1	0	0	0	0	1	0	0	0	10573	826	29	2	840	2	NMT1	17	43175850	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	3050174	43175850	38019360	73	55349											
MYO5B	4645	broad.mit.edu	37	chr18	47373592	47373592	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctggaaatccttctctttCcgctggaccgtgacctgcct	5	12	8	16	2	1	1	0	1	1	0	4	3	3	3	6	2	1	1	6	2	1	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr18:47373592C>T	ENST00000285039.7	-	33	4682	c.4383G>A	c.(4381-4383)cgG>cgA	p.R1461R	MYO5B_ENST00000592688.1_Silent_p.R31R|MYO5B_ENST00000324581.6_Silent_p.R576R|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1461					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCTTCTCTTTCCGCTGGACCG	0.572													8	26					0	0	0	0	T	47373592	C	T	47373592	2	4	309	1	0	0	0	0	0	0	0	1	10149	842	30	2		2	MYO5B	18	47373592	Silent	SNP	C	TCGA-CV-7415-01A-11D-2078-08		47373592	30703656	74	55350											
MUC16	94025	broad.mit.edu	37	chr19	9048921	9048921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccattgaaggtgtggtctCtggttcaccaggagaaagag	10	9	15	7	0	2	3	1	1	1	2	3	4	2	3	2	5	0	1	2	5	2	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:9048921C>T	ENST00000397910.4	-	5	32913	c.32710G>A	c.(32710-32712)Gag>Aag	p.E10904K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10906	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						GGTGTGGTCTCTGGTTCACCA	0.502													14	65					0	0	0	0	T	9048921	C	T	9048921	3	4	309	1	0	0	0	0	1	0	0	0	10043	922	32	2	11133	2	MUC16	19	9048921	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08		9048921	50080062	75	55351											
ZNF844	284391	broad.mit.edu	37	chr19	12187210	12187210	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctatgaatgtaagcagtgtAgtaaagccttcatttcttcc	11	14	7	9	0	2	1	1	1	1	0	3	1	3	1	3	0	2	4	3	0	6	7	rs6511764	by1000genomes	TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:12187210A>G	ENST00000439326.3	+	4	1450	c.1275A>G	c.(1273-1275)gtA>gtG	p.V425V	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TAAGCAGTGTAGTAAAGCCTT	0.428													3	36					0	0	0	0	G	12187210	A	G	12187210	2	3	309	1	0	0	0	0	0	0	0	1	18283	407	15	5		5	ZNF844	19	12187210	Silent	SNP	A	TCGA-CV-7415-01A-11D-2078-08	3138289	12187210	46941773	76	55352											
CHERP	10523	broad.mit.edu	37	chr19	16629998	16629998	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcgtccctggccttcatgCgggcgatgaaggagtagctc	7	9	13	12	3	1	1	1	1	0	0	4	3	2	2	2	3	2	2	2	3	2	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:16629998C>G	ENST00000546361.2	-	17	2874	c.2723G>C	c.(2722-2724)cGc>cCc	p.R908P	CHERP_ENST00000198939.6_Missense_Mutation_p.R919P|CTD-3222D19.2_ENST00000409035.1_3'UTR|C19orf44_ENST00000221671.3_Intron|CHERP_ENST00000544299.1_5'UTR	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	908					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGCCTTCATGCGGGCGATGAA	0.637													3	13					0	0	0	0	G	16629998	C	G	16629998	3	3	309	1	0	0	0	0	1	0	0	0	3365	768	27	3	31	3	CHERP	19	16629998	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	4442788	16629998	42498985	77	55353											
SPTBN4	57731	broad.mit.edu	37	chr19	40993612	40993612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctctcctccagatgagcggGaagccgtgcagaagaaaacc	12	5	11	13	2	1	4	0	1	1	3	3	5	2	5	5	1	4	1	5	1	4	0			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:40993612G>A	ENST00000352632.3	+	3	264	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E60K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E60K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E60K|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E60K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	60	Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGATGAGCGGGAAGCCGTGCA	0.647													8	103					0	0	0	0	A	40993612	G	A	40993612	3	1	309	1	0	0	0	0	1	0	0	0	15211	1175	41	2	184	2	SPTBN4	19	40993612	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	24363614	40993612	18135371	78	55354											
PSG6	5675	broad.mit.edu	37	chr19	43414874	43414874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagctgcaacctgtgagtCatagggaggttctgaccatt	10	10	12	9	0	2	2	1	2	1	0	2	4	2	3	2	2	3	3	2	2	2	3			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:43414874C>T	ENST00000187910.2	-	3	629	c.564G>A	c.(562-564)atG>atA	p.M188I	PSG6_ENST00000292125.2_Missense_Mutation_p.M188I|PSG6_ENST00000402603.4_Missense_Mutation_p.M188I	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACCTGTGAGTCATAGGGAGGT	0.493													86	145					0	0	0	0	T	43414874	C	T	43414874	3	4	309	1	0	0	0	0	1	0	0	0	12738	826	29	2	798	2	PSG6	19	43414874	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	2421262	43414874	15714109	79	55355											
FTL	2512	broad.mit.edu	37	chr19	49468783	49468783	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatgagctcccagattcgtCagaattattccaccgacgtg	10	10	8	13	3	1	3	1	1	0	2	4	4	3	3	4	0	1	1	4	0	2	3			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:49468783C>T	ENST00000331825.6	+	1	226	c.19C>T	c.(19-21)Cag>Tag	p.Q7*		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	7	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	CCAGATTCGTCAGAATTATTC	0.567													69	52					0	0	0	0	T	49468783	C	T	49468783	4	4	309	1	0	0	0	0	0	1	0	0	6132	827	29	2	21	2	FTL	19	49468783	Nonsense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	6053909	49468783	9660200	80	55356											
LILRA5	353514	broad.mit.edu	37	chr19	54823872	54823872	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactggctgcagctgtgcaGatggatgagaccatggtgcc	8	8	14	11	0	0	2	0	1	0	2	0	4	0	3	3	3	4	4	3	3	0	0			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:54823872G>C	ENST00000301219.3	-	2	142	c.23C>G	c.(22-24)tCt>tGt	p.S8C	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.S8C|LILRA5_ENST00000346508.3_Missense_Mutation_p.S8C|LILRA5_ENST00000432233.3_Missense_Mutation_p.S8C	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	8					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCTGTGCAGATGGATGAGA	0.597													5	40					0	0	0	0	C	54823872	G	C	54823872	3	2	309	1	0	0	0	0	1	0	0	0	8842	942	33	2	986	2	LILRA5	19	54823872	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	5355089	54823872	4305111	81	55357											
SLC27A5	10998	broad.mit.edu	37	chr19	59011756	59011756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctcacaggctccgccGcctccatgtcgaactgcacc	6	8	8	19	3	1	0	1	0	0	0	5	1	4	0	6	1	2	2	6	1	1	0			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:59011756G>T	ENST00000263093.2	-	6	1527	c.1418C>A	c.(1417-1419)gCg>gAg	p.A473E	SLC27A5_ENST00000601355.1_Missense_Mutation_p.A389E	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	473					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGGCTCCGCCGCCTCCATGTC	0.627													10	48					1.05317e-09	2.49778e-09	1	0	T	59011756	G	T	59011756	3	4	309	1	0	0	0	0	1	0	0	0	14617	1087	38	3	674	3	SLC27A5	19	59011756	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08	4187884	59011756	117227	82	55358											
EIF6	3692	broad.mit.edu	37	chr20	33872130	33872130	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctcccactgccggagctcTtgactcctgcgcacgcctcc	4	8	8	21	3	1	1	0	1	1	0	4	2	4	2	6	1	3	2	6	1	0	1			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr20:33872130T>G	ENST00000374443.3	-	2	210	c.161A>C	c.(160-162)aAg>aCg	p.K54T	EIF6_ENST00000462894.1_Intron|EIF6_ENST00000374436.3_Intron|EIF6_ENST00000374450.3_Intron	NM_181466.2	NP_852131.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	57					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCGGAGCTCTTGACTCCTGC	0.667													25	50					0	0	0	0	G	33872130	T	G	33872130	3	3	309	1	0	0	0	0	1	0	0	0	5083	1609	56	5	715	5	EIF6	20	33872130	Missense_Mutation	SNP	T	TCGA-CV-7415-01A-11D-2078-08		33872130	29153390	83	55359											
BTG3	10950	broad.mit.edu	37	chr21	18981460	18981460	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcagcaatttcattcttCatttttttccctgcaaagat	10	16	5	10	1	3	1	2	0	1	1	4	1	4	1	1	1	2	3	1	1	2	6			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr21:18981460C>A	ENST00000339775.6	-	2	156	c.3G>T	c.(1-3)atG>atT	p.M1I	BTG3_ENST00000464058.1_5'UTR|BTG3_ENST00000348354.6_Start_Codon_SNP_p.M1I	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	1					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TTTCATTCTTCATTTTTTTCC	0.348													33	35					5.8336e-16	1.40847e-15	1	0	A	18981460	C	A	18981460	1	1	309	1	0	0	0	0	0	0	0	0	1564	826	29	2		2	BTG3	21	18981460	Translation_Start_Site	SNP	C	TCGA-CV-7415-01A-11D-2078-08		18981460	29148435	84	55360											
RIPK4	54101	broad.mit.edu	37	chr21	43161792	43161803	+	In_Frame_Del	DEL	GTGTGCTAGACT	GTGTGCTAGACT	-																															gttcttctccaacagcagccGtgtgctagactcgtccccgt																								rs148559295		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr21:43161792_43161803delGTGTGCTAGACT	ENST00000352483.2	-	9	1758_1769	c.1694_1705delAGTCTAGCACAC	c.(1693-1707)ggg>g	p.ESSTR565del	RIPK4_ENST00000332512.3_In_Frame_Del_p.ESSTR517del|RIPK4_ENST00000542057.1_In_Frame_Del_p.ESSTR454del|RIPK4_ENST00000544709.1_In_Frame_Del_p.ESSTR454del			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	517						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						AACAGCAGCCGTGTGCTAGACTCGTCCCCGTT	0.632													12	27	---	---	---	---					-	43161803	GTGTGCTAGACT	-	43161792	7	5	309	1	0	1	0	1	0	0	0	0	13468	1144	40	0	797	0	RIPK4	21	43161792	In_Frame_Del	DEL	GTGTGCTAGACT	TCGA-CV-7415-01A-11D-2078-08	24180332	43161792	4968103	85	55361											
TRPM2	7226	broad.mit.edu	37	chr21	45833913	45833913	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctactctgcctctacctgctCttcaccaacatcctgctgct	6	13	4	18	0	4	0	1	0	3	0	5	0	5	0	4	0	7	3	4	0	3	3			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr21:45833913C>G	ENST00000397928.1	+	20	3547	c.3102C>G	c.(3100-3102)ctC>ctG	p.L1034L	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.L1014L|TRPM2_ENST00000300482.5_Silent_p.L1034L|TRPM2_ENST00000397932.2_Silent_p.L1034L	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1034						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCTACCTGCTCTTCACCAACA	0.657													38	299					0	0	0	0	G	45833913	C	G	45833913	2	3	309	1	0	0	0	0	0	0	0	1	16681	900	32	2		2	TRPM2	21	45833913	Silent	SNP	C	TCGA-CV-7415-01A-11D-2078-08	2672121	45833913	2295982	86	55362											
FGD1	2245	broad.mit.edu	37	chrX	54497839	54497839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtctgagcgaagccgctggGgaccttctggatgaggctct	6	9	16	10	2	3	2	0	2	3	0	3	5	3	4	2	5	2	2	2	5	1	1			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:54497839G>A	ENST00000375135.3	-	2	1122	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	130	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAGCCGCTGGGGACCTTCTGG	0.607													4	14					0	0	0	0	A	54497839	G	A	54497839	3	1	309	1	0	0	0	0	1	0	0	0	5877	1232	43	4	2564	4	FGD1	23	54497839	Missense_Mutation	SNP	G	TCGA-CV-7415-01A-11D-2078-08		54497839	100772721	87	55363											
GPR174	84636	broad.mit.edu	37	chrX	78426986	78426986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcagaaccagtgatgataCctctggcaataggaccaaat	14	8	8	11	0	2	3	1	2	1	1	2	4	2	4	4	2	2	1	4	2	5	2			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:78426986C>A	ENST00000276077.1	+	1	518	c.482C>A	c.(481-483)aCc>aAc	p.T161N		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	161						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						AGTGATGATACCTCTGGCAAT	0.478										HNSCC(63;0.18)			18	29					9.16793e-09	2.13653e-08	1	0	A	78426986	C	A	78426986	3	1	309	1	0	0	0	0	1	0	0	0	6721	507	18	4	484	4	GPR174	23	78426986	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	23929147	78426986	76843574	88	55364											
PABPC5	140886	broad.mit.edu	37	chrX	90690579	90690579	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagtgctcagagagatGgggagcggggagcctaatcc	9	6	15	11	1	1	2	1	0	0	2	3	5	3	4	3	4	3	1	3	4	1	1			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:90690579G>A	ENST00000312600.3	+	2	217	c.3G>A	c.(1-3)atG>atA	p.M1I	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	1						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TCAGAGAGATGGGGAGCGGGG	0.512													10	6					0	0	0	0	A	90690579	G	A	90690579	1	1	309	1	0	0	0	0	0	0	0	0	11438	1348	47	4		4	PABPC5	23	90690579	Translation_Start_Site	SNP	G	TCGA-CV-7415-01A-11D-2078-08	12263593	90690579	64579981	89	55365											
THOC2	57187	broad.mit.edu	37	chrX	122767908	122767908	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtaccacttctttcaataTaagcaggtcaaaactattca	14	14	4	9	0	4	0	3	0	1	0	4	0	4	0	1	1	3	2	1	1	7	8			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:122767908T>C	ENST00000245838.8	-	20	2063	c.2032A>G	c.(2032-2034)Ata>Gta	p.I678V	THOC2_ENST00000355725.4_Missense_Mutation_p.I678V|THOC2_ENST00000491737.1_Missense_Mutation_p.I563V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	678					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCTTTCAATATAAGCAGGTCA	0.323													11	49					0	0	0	0	C	122767908	T	C	122767908	3	2	309	1	0	0	0	0	1	0	0	0	15959	1406	49	5	2825	5	THOC2	23	122767908	Missense_Mutation	SNP	T	TCGA-CV-7415-01A-11D-2078-08	32077329	122767908	32502652	90	55366											
GPC3	2719	broad.mit.edu	37	chrX	132888182	132888182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtagttcttggcatggCgaacaacaatttcaaaggcc	11	11	11	8	1	2	0	1	0	1	0	2	1	2	0	1	4	2	3	1	4	5	4	rs148021273	byFrequency	TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:132888182C>T	ENST00000370818.3	-	3	804	c.359G>A	c.(358-360)cGc>cAc	p.R120H	GPC3_ENST00000394299.2_Missense_Mutation_p.R120H|GPC3_ENST00000543339.1_Missense_Mutation_p.R66H	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	120						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CTTGGCATGGCGAACAACAAT	0.363			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				7	72					0	0	0	0	T	132888182	C	T	132888182	3	4	309	1	0	0	0	0	1	0	0	0	6648	768	27	1	1480	1	GPC3	23	132888182	Missense_Mutation	SNP	C	TCGA-CV-7415-01A-11D-2078-08	10120274	132888182	22382378	91	55367											
PLAC1	10761	broad.mit.edu	37	chrX	133700419	133700419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcccttagaagagtagtgTatctcagtgctgtagataac	11	12	11	7	0	1	3	1	0	1	3	2	3	1	3	1	0	3	4	1	0	6	5			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:133700419T>C	ENST00000359237.4	-	3	579	c.294A>G	c.(292-294)atA>atG	p.I98M	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	98					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					AAGAGTAGTGTATCTCAGTGC	0.522													80	22					0	0	0	0	C	133700419	T	C	133700419	3	2	309	1	0	0	0	0	1	0	0	0	12084	1628	57	5	348	5	PLAC1	23	133700419	Missense_Mutation	SNP	T	TCGA-CV-7415-01A-11D-2078-08	812237	133700419	21570141	92	55368											
CASZ1	54897	broad.mit.edu	37	chr1	10699678	10699678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtttgccgtggtgcttgCgatgcgccgtgaccttggtg	2	13	15	11	4	0	1	0	1	0	0	0	2	0	1	4	2	4	2	4	2	0	3			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:10699678C>T	ENST00000377022.3	-	21	4918	c.4601G>A	c.(4600-4602)cGc>cAc	p.R1534H	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTGGTGCTTGCGATGCGCCGT	0.662													5	7					0	0	0	0	T	10699678	C	T	10699678	3	4	310	1	0	0	0	0	1	0	0	0	2710	768	27	1	682	1	CASZ1	1	10699678	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08		10699678	238550943	1	55369											
PADI4	23569	broad.mit.edu	37	chr1	17682852	17682852	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccagtgtttctgcctccagGgcttccggctgctcctggcc	2	11	11	17	1	1	0	0	0	1	0	4	0	4	0	6	3	2	4	6	3	0	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:17682852G>A	ENST00000375448.4	+	13	1482	c.1455_splice	c.e13-1	p.G486_splice	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	486					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTGCCTCCAGGGCTTCCGGCT	0.607													3	21					0	0	0	0	A	17682852	G	A	17682852	5	1	310	1	0	0	0	0	0	0	1	0	11451	1246	43	4	1506	4	PADI4	1	17682852	Splice_Site	SNP	G	TCGA-CV-7416-01A-11D-2078-08	6983174	17682852	231567769	2	55370											
UBR4	23352	broad.mit.edu	37	chr1	19487581	19487581	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaatcctgggttcactctGaaatgccgactccttcatgg	9	12	9	11	1	3	2	2	2	1	0	5	3	5	2	3	2	1	1	3	2	2	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:19487581G>A	ENST00000375267.2	-	38	5239	c.5236C>T	c.(5236-5238)Cag>Tag	p.Q1746*	UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q1746*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.Q1746*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q1746*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1746					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGTTCACTCTGAAATGCCGAC	0.512													3	23					0	0	0	0	A	19487581	G	A	19487581	4	1	310	1	0	0	0	0	0	1	0	0	17000	1299	45	2	10591	2	UBR4	1	19487581	Nonsense_Mutation	SNP	G	TCGA-CV-7416-01A-11D-2078-08	1804729	19487581	229763040	3	55371											
GJA9	81025	broad.mit.edu	37	chr1	39341347	39341347	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagctttatttagtttccTtttctccagctgacaaagct	8	17	7	9	0	1	1	0	1	1	0	3	2	2	2	2	1	3	4	2	1	3	7			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:39341347T>G	ENST00000454994.2	-	2	700	c.424A>C	c.(424-426)Agg>Cgg	p.R142R	RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000360786.3_Silent_p.R142R|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000357771.3_Silent_p.R142R			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	142					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTTAGTTTCCTTTTCTCCAGC	0.433													26	51					0	0	0	0	G	39341347	T	G	39341347	2	3	310	1	0	0	0	0	0	0	0	1	6457	1608	56	5		5	GJA9	1	39341347	Silent	SNP	T	TCGA-CV-7416-01A-11D-2078-08	19853766	39341347	209909274	4	55372											
MSH4	4438	broad.mit.edu	37	chr1	76269464	76269464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagaaaacacagttgcatCaaattttacttttggtgcaa	14	13	7	7	0	1	1	1	0	0	1	1	1	1	1	0	1	5	4	0	1	5	5			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:76269464C>T	ENST00000263187.3	+	2	397	c.293C>T	c.(292-294)tCa>tTa	p.S98L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	98					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ACAGTTGCATCAAATTTTACT	0.328								Mismatch excision repair (MMR)					5	39					0	0	0	0	T	76269464	C	T	76269464	3	4	310	1	0	0	0	0	1	0	0	0	9942	838	29	2	299	2	MSH4	1	76269464	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	36928117	76269464	172981157	5	55373											
IGSF8	93185	broad.mit.edu	37	chr1	160062266	160062266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagggcctcctccaggcCggactcccagctctgccaca	7	6	10	18	1	1	1	0	1	1	0	4	2	4	2	6	3	2	1	6	3	0	0			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:160062266C>T	ENST00000368086.1	-	5	1748	c.1532G>A	c.(1531-1533)cGg>cAg	p.R511Q	IGSF8_ENST00000314485.7_Missense_Mutation_p.R511Q			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	511	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTCCAGGCCGGACTCCCAG	0.662													5	19					0	0	0	0	T	160062266	C	T	160062266	3	4	310	1	0	0	0	0	1	0	0	0	7657	652	23	1	317	1	IGSF8	1	160062266	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	83792802	160062266	89188355	6	55374											
PFDN2	5202	broad.mit.edu	37	chr1	161071851	161071851	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctcacctgctccttgttgTtctccaaagcgggcagcacc	6	11	9	15	1	2	0	1	0	1	0	4	0	3	0	4	1	4	6	4	1	1	3			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:161071851T>C	ENST00000368010.3	-	3	359	c.275A>G	c.(274-276)aAc>aGc	p.N92S	PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	92					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTCCTTGTTGTTCTCCAAAGC	0.522													6	22					0	0	0	0	C	161071851	T	C	161071851	3	2	310	1	0	0	0	0	1	0	0	0	11828	1725	60	5	197	5	PFDN2	1	161071851	Missense_Mutation	SNP	T	TCGA-CV-7416-01A-11D-2078-08	1009585	161071851	88178770	7	55375											
SOX13	9580	broad.mit.edu	37	chr1	204085788	204085788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagcagcagatggagcttgCccggcagcagcaggagcagg	10	3	17	11	1	0	1	0	0	0	1	0	3	0	3	1	4	7	8	1	4	0	1			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:204085788C>T	ENST00000367204.1	+	5	681	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	191	Gln-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGGAGCTTGCCCGGCAGCAG	0.587													3	38					0	0	0	0	T	204085788	C	T	204085788	3	4	310	1	0	0	0	0	1	0	0	0	15032	739	26	4	586	4	SOX13	1	204085788	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	43013937	204085788	45164833	8	55376											
KHK	3795	broad.mit.edu	37	chr2	27317367	27317367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctggatgacctccgcCgctattctgtggacctacgc	5	12	10	14	3	1	1	0	1	1	0	3	3	3	3	5	2	1	1	5	2	2	4			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:27317367C>T	ENST00000260599.6	+	3	745	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Intron	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	78					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACCTCCGCCGCTATTCTGT	0.597													20	51					0	0	0	0	T	27317367	C	T	27317367	3	4	310	1	0	0	0	0	1	0	0	0	8200	652	23	1	242	1	KHK	2	27317367	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08		27317367	215882006	9	55377											
FBXO11	80204	broad.mit.edu	37	chr2	48066041	48066041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcactgaagcgtttacataCacaagctgctctacaaagat	14	11	6	10	1	2	2	1	1	1	1	2	2	2	2	0	0	6	3	0	0	6	5			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:48066041C>T	ENST00000403359.3	-	4	616	c.544G>A	c.(544-546)Gta>Ata	p.V182I	FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Missense_Mutation_p.V98I|FBXO11_ENST00000378314.3_Missense_Mutation_p.V64I|FBXO11_ENST00000316377.4_Missense_Mutation_p.V98I	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	182	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGTTTACATACACAAGCTGCT	0.378			"Mis, F, D"		DLBCL								3	40					0	0	0	0	T	48066041	C	T	48066041	3	4	310	1	0	0	0	0	1	0	0	0	5772	478	17	4	2409	4	FBXO11	2	48066041	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	20748674	48066041	195133332	10	55378											
POLR1A	25885	broad.mit.edu	37	chr2	86279995	86279995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagaggcgggccaggcaGgttagaaccttgccgctggt	8	7	17	9	2	0	3	0	1	0	2	0	3	0	3	3	5	2	3	3	5	3	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:86279995G>A	ENST00000263857.6	-	16	2715	c.2337C>T	c.(2335-2337)acC>acT	p.T779T	POLR1A_ENST00000409681.1_Silent_p.T779T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	779					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGGCCAGGCAGGTTAGAACCT	0.642													11	19					0	0	0	0	A	86279995	G	A	86279995	2	1	310	1	0	0	0	0	0	0	0	1	12281	987	35	4		4	POLR1A	2	86279995	Silent	SNP	G	TCGA-CV-7416-01A-11D-2078-08	38213954	86279995	156919378	11	55379											
TBR1	10716	broad.mit.edu	37	chr2	162273105	162273105	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaccagggggatgacgaatCagtcagatacagacaatttt	14	10	10	7	1	2	3	2	1	0	2	2	5	2	4	1	2	2	0	1	2	4	4			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:162273105C>T	ENST00000389554.3	+	1	501	c.184C>T	c.(184-186)Cag>Tag	p.Q62*		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	62						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GATGACGAATCAGTCAGATAC	0.493													13	38					0	0	0	0	T	162273105	C	T	162273105	4	4	310	1	0	0	0	0	0	1	0	0	15741	827	29	2	186	2	TBR1	2	162273105	Nonsense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	75993110	162273105	80926268	12	55380											
WIPF1	7456	broad.mit.edu	37	chr2	175431842	175431842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggataacttttggtcGtttgtacatatggctctgga	7	16	12	6	1	1	0	0	0	1	0	2	2	1	2	0	4	3	4	0	4	3	6			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:175431842G>A	ENST00000392547.2	-	7	1511	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.T471M|WIPF1_ENST00000392546.2_Missense_Mutation_p.T471M|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.T471M|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000359761.3_Missense_Mutation_p.T471M	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	471					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ACTTTTGGTCGTTTGTACATA	0.458													14	33					0	0	0	0	A	175431842	G	A	175431842	3	1	310	1	0	0	0	0	1	0	0	0	17463	1145	40	1	107	1	WIPF1	2	175431842	Missense_Mutation	SNP	G	TCGA-CV-7416-01A-11D-2078-08	13158737	175431842	67767531	13	55381											
CXCR2	3579	broad.mit.edu	37	chr2	219000421	219000421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgggctctggatgccacCgagattctgggcatccttca	7	9	12	13	2	3	1	1	0	2	1	4	4	4	2	4	3	1	2	4	3	0	2	rs13306439		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:219000421C>T	ENST00000318507.2	+	3	1324	c.897C>T	c.(895-897)acC>acT	p.T299T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	299					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.T299T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TGGATGCCACCGAGATTCTGG	0.567													9	60					0	0	0	0	T	219000421	C	T	219000421	2	4	310	1	0	0	0	0	0	0	0	1	4123	639	23	1		1	CXCR2	2	219000421	Silent	SNP	C	TCGA-CV-7416-01A-11D-2078-08	43568579	219000421	24198952	14	55382											
WDFY1	57590	broad.mit.edu	37	chr2	224743419	224743419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacccagtcgccagactgCagcccaccacaggtgtcatg	12	5	9	15	1	1	1	1	0	0	1	2	1	1	1	4	1	3	1	4	1	2	0			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:224743419C>T	ENST00000233055.4	-	12	1304	c.1202G>A	c.(1201-1203)tGc>tAc	p.C401Y		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	401						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CGCCAGACTGCAGCCCACCAC	0.542													4	15					0	0	0	0	T	224743419	C	T	224743419	3	4	310	1	0	0	0	0	1	0	0	0	17364	710	25	4	34	4	WDFY1	2	224743419	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	5742998	224743419	18455954	15	55383											
COL4A4	1286	broad.mit.edu	37	chr2	227945173	227945173	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acatactggaggtcctggatCccctttttctccagcatgtc	7	13	8	13	0	1	0	0	0	1	0	5	2	3	2	4	3	2	1	4	3	1	3			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:227945173C>G	ENST00000396625.3	-	24	1996	c.1789G>C	c.(1789-1791)Gat>Cat	p.D597H	COL4A4_ENST00000329662.7_Missense_Mutation_p.D597H	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	597	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGTCCTGGATCCCCTTTTTCT	0.463													15	54					0	0	0	0	G	227945173	C	G	227945173	3	3	310	1	0	0	0	0	1	0	0	0	3723	855	30	2	3383	2	COL4A4	2	227945173	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	3201754	227945173	15254200	16	55384											
DCLK3	85443	broad.mit.edu	37	chr3	36779850	36779850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgctactgggttctggctCccatttccccctcccccact	3	13	6	19	0	1	0	0	0	1	0	4	0	4	0	5	2	2	3	5	2	1	4			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:36779850C>T	ENST00000416516.2	-	2	791	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	101						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.E101*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGTTCTGGCTCCCATTTCCCC	0.592													46	85					0	0	0	0	T	36779850	C	T	36779850	3	4	310	1	0	0	0	0	1	0	0	0	4325	864	30	2	1661	2	DCLK3	3	36779850	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08		36779850	161242580	17	55385											
DCLK3	85443	broad.mit.edu	37	chr3	36779895	36779895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggtcctcgctctgtcatCtagtgaaagctcctcgggga	6	11	12	12	2	3	1	1	1	2	0	7	2	5	2	2	3	1	2	2	3	2	1			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:36779895C>G	ENST00000416516.2	-	2	746	c.256G>C	c.(256-258)Gat>Cat	p.D86H		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	86						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GCTCTGTCATCTAGTGAAAGC	0.622													51	100					0	0	0	0	G	36779895	C	G	36779895	3	3	310	1	0	0	0	0	1	0	0	0	4325	913	32	2	1706	2	DCLK3	3	36779895	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	45	36779895	161242535	18	55386											
PLCD1	5333	broad.mit.edu	37	chr3	38050888	38050888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcagtaaatgaccatgTcagagagctcctgtgctagc	10	11	10	10	0	2	2	1	1	1	1	3	3	3	2	2	0	4	4	2	0	3	3			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:38050888T>C	ENST00000463876.1	-	10	1897	c.1544A>G	c.(1543-1545)gAc>gGc	p.D515G	PLCD1_ENST00000334661.4_Missense_Mutation_p.D494G	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	494	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AATGACCATGTCAGAGAGCTC	0.577													17	14					0	0	0	0	C	38050888	T	C	38050888	3	2	310	1	0	0	0	0	1	0	0	0	12103	1667	58	5	813	5	PLCD1	3	38050888	Missense_Mutation	SNP	T	TCGA-CV-7416-01A-11D-2078-08	1270993	38050888	159971542	19	55387											
CACNA2D2	9254	broad.mit.edu	37	chr3	50402370	50402370	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctccggtatcgcggtctCtgcactagctcacactgctc	5	11	8	17	3	3	0	1	0	2	0	7	0	3	0	2	2	3	4	2	2	2	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:50402370C>T	ENST00000435965.1	-	38	3443	c.3270G>A	c.(3268-3270)caG>caA	p.Q1090Q	CACNA2D2_ENST00000479441.1_Silent_p.Q1087Q|CACNA2D2_ENST00000429770.1_Silent_p.Q1081Q|CACNA2D2_ENST00000424201.2_Silent_p.Q1080Q|CACNA2D2_ENST00000423994.2_Silent_p.Q1090Q|CACNA2D2_ENST00000395083.1_Silent_p.Q1083Q|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000360963.3_Silent_p.Q1013Q|CACNA2D2_ENST00000266039.3_Silent_p.Q1082Q			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1087					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	ATCGCGGTCTCTGCACTAGCT	0.721													8	30					0	0	0	0	T	50402370	C	T	50402370	2	4	310	1	0	0	0	0	0	0	0	1	2574	912	32	2		2	CACNA2D2	3	50402370	Silent	SNP	C	TCGA-CV-7416-01A-11D-2078-08	12351482	50402370	147620060	20	55388											
MYH15	22989	broad.mit.edu	37	chr3	108117636	108117636	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagccacagccacctgctCcttcagatcactgttcagtt	8	11	6	16	0	4	1	4	0	0	1	5	1	5	1	4	0	3	3	4	0	0	3			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:108117636C>A	ENST00000273353.3	-	36	5097	c.5041G>T	c.(5041-5043)Gag>Tag	p.E1681*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1681						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCCACCTGCTCCTTCAGATCA	0.537													9	163					0.000673444	0.000711927	1	0	A	108117636	C	A	108117636	4	1	310	1	0	0	0	0	0	1	0	0	10104	864	30	2	827	2	MYH15	3	108117636	Nonsense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	57715266	108117636	89904794	21	55389											
SEMA5B	54437	broad.mit.edu	37	chr3	122647874	122647874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgctttggcaggagcggCgcgtgtcctcactggaggcc	4	10	15	12	3	1	0	1	0	0	0	2	2	2	2	2	5	2	2	2	5	0	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:122647874C>T	ENST00000195173.4	-	6	809	c.506G>A	c.(505-507)cGc>cAc	p.R169H	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R223H|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R169H			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	169	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCAGGAGCGGCGCGTGTCCTC	0.617													8	30					0	0	0	0	T	122647874	C	T	122647874	3	4	310	1	0	0	0	0	1	0	0	0	14125	768	27	1	3021	1	SEMA5B	3	122647874	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	14530238	122647874	75374556	22	55390											
KLHL6	89857	broad.mit.edu	37	chr3	183210339	183210339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgcatttagcctccacggGcatggccgccttcaaactcc	8	9	9	15	2	1	0	1	0	0	0	3	1	3	0	5	2	3	2	5	2	2	3			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:183210339G>A	ENST00000341319.3	-	6	1542	c.1507C>T	c.(1507-1509)Ccc>Tcc	p.P503S		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	503										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCCTCCACGGGCATGGCCGCC	0.517													3	46					0	0	0	0	A	183210339	G	A	183210339	3	1	310	1	0	0	0	0	1	0	0	0	8445	1203	42	4	366	4	KLHL6	3	183210339	Missense_Mutation	SNP	G	TCGA-CV-7416-01A-11D-2078-08	60562465	183210339	14812091	23	55391											
MTTP	4547	broad.mit.edu	37	chr4	100543978	100543978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtttgcccctcagccGgatagtacttccagcggatg	6	11	13	11	2	1	0	1	0	0	0	2	2	2	2	4	3	4	2	4	3	2	4			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr4:100543978G>A	ENST00000457717.1	+	19	2914	c.2658G>A	c.(2656-2658)ccG>ccA	p.P886P	MTTP_ENST00000511045.1_Silent_p.P913P|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.P886P	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	886					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CCCCTCAGCCGGATAGTACTT	0.443													24	55					0	0	0	0	A	100543978	G	A	100543978	2	1	310	1	0	0	0	0	0	0	0	1	10034	1103	39	1		1	MTTP	4	100543978	Silent	SNP	G	TCGA-CV-7416-01A-11D-2078-08		100543978	90610298	24	55392											
NKD2	85409	broad.mit.edu	37	chr5	1032273	1032273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgttcttcctgcaggagctgCccaatggggaccccaaggag	8	7	13	13	1	1	0	0	0	1	0	2	3	2	3	4	4	3	3	4	4	2	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr5:1032273C>T	ENST00000296849.5	+	4	377	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	NKD2_ENST00000274150.4_Missense_Mutation_p.P50S|NKD2_ENST00000537972.1_Missense_Mutation_p.P50S	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	50	Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GCAGGAGCTGCCCAATGGGGA	0.662													22	204					0	0	0	0	T	1032273	C	T	1032273	3	4	310	1	0	0	0	0	1	0	0	0	10512	739	26	4	162	4	NKD2	5	1032273	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08		1032273	179882987	25	55393											
RXFP3	51289	broad.mit.edu	37	chr5	33937016	33937016	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggggctggagttgccGgacggcgcgccgccaggaca	6	4	19	12	5	0	0	0	0	0	0	0	4	0	3	3	6	2	3	3	6	0	1			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr5:33937016G>A	ENST00000330120.3	+	1	526	c.171G>A	c.(169-171)ccG>ccA	p.P57P		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	57						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGGAGTTGCCGGACGGCGCGC	0.687													14	153					0	0	0	0	A	33937016	G	A	33937016	2	1	310	1	0	0	0	0	0	0	0	1	13846	1103	39	1		1	RXFP3	5	33937016	Silent	SNP	G	TCGA-CV-7416-01A-11D-2078-08	32904743	33937016	146978244	26	55394											
MARVELD2	153562	broad.mit.edu	37	chr5	68716051	68716051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcatgtccatgtattaccGgaccattcttctggactcta	8	14	8	11	1	3	0	0	0	3	0	4	2	4	2	3	3	1	2	3	3	3	5			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr5:68716051G>A	ENST00000325631.5	+	2	913	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	280	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ATGTATTACCGGACCATTCTT	0.433													15	55					0	0	0	0	A	68716051	G	A	68716051	3	1	310	1	0	0	0	0	1	0	0	0	9387	1116	39	1	841	1	MARVELD2	5	68716051	Missense_Mutation	SNP	G	TCGA-CV-7416-01A-11D-2078-08	34779035	68716051	112199209	27	55395											
PCDHA4	56144	broad.mit.edu	37	chr5	140187182	140187182	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggtgttcccagcaacacAaaagaacctgtccatcgcgg	11	6	10	14	3	0	1	0	0	0	1	3	1	2	1	4	2	3	2	4	2	4	1	rs144914662	byFrequency	TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr5:140187182A>C	ENST00000530339.1	+	1	410	c.410A>C	c.(409-411)cAa>cCa	p.Q137P	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.Q137P|PCDHA4_ENST00000356878.4_Missense_Mutation_p.Q137P	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCAACACAAAAGAACCTG	0.572													4	82					0	0	0	0	C	140187182	A	C	140187182	3	2	310	1	0	0	0	0	1	0	0	0	11597	130	5	5	412	5	PCDHA4	5	140187182	Missense_Mutation	SNP	A	TCGA-CV-7416-01A-11D-2078-08	71471131	140187182	40728078	28	55396											
ZFAND3	60685	broad.mit.edu	37	chr6	38084407	38084407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cacgactacttgagaatacgGaacggtccgaggaaaccagt	14	6	11	10	4	0	1	0	1	0	1	1	6	1	3	2	3	4	0	2	3	5	3			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr6:38084407G>C	ENST00000287218.4	+	5	868	c.421G>C	c.(421-423)Gaa>Caa	p.E141Q	ZFAND3_ENST00000373391.2_Missense_Mutation_p.E119Q	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	141							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						TGAGAATACGGAACGGTCCGA	0.498													14	33					0	0	0	0	C	38084407	G	C	38084407	3	2	310	1	0	0	0	0	1	0	0	0	17724	1175	41	2	439	2	ZFAND3	6	38084407	Missense_Mutation	SNP	G	TCGA-CV-7416-01A-11D-2078-08		38084407	133030660	29	55397											
SLC22A7	10864	broad.mit.edu	37	chr6	43267656	43267656	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctggagtggctggatgtgGagcaccgcaccgtggctgga	7	7	18	9	2	0	0	0	0	0	0	0	4	0	4	2	6	2	5	2	6	0	0			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr6:43267656G>C	ENST00000372585.5	+	5	774	c.679G>C	c.(679-681)Gag>Cag	p.E227Q	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Missense_Mutation_p.E225Q|SLC22A7_ENST00000372589.3_Missense_Mutation_p.E225Q	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	227						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCTGGATGTGGAGCACCGCAC	0.607													17	42					0	0	0	0	C	43267656	G	C	43267656	3	2	310	1	0	0	0	0	1	0	0	0	14547	1175	41	2	693	2	SLC22A7	6	43267656	Missense_Mutation	SNP	G	TCGA-CV-7416-01A-11D-2078-08	5183249	43267656	127847411	30	55398											
HNRNPA2B1	3181	broad.mit.edu	37	chr7	26233291	26233291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttcctcctccataacCggggctacctccaaaattgc	8	11	5	17	1	1	0	0	0	1	0	6	0	6	0	7	2	3	1	7	2	4	4			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr7:26233291C>T	ENST00000354667.4	-	9	949	c.781G>A	c.(781-783)Ggt>Agt	p.G261S	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.G249S	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	261	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCTCCATAACCGGGGCTACCT	0.448			T	ETV1	prostate								20	55					0	0	0	0	T	26233291	C	T	26233291	3	4	310	1	0	0	0	0	1	0	0	0	7309	652	23	1	292	1	HNRNPA2B1	7	26233291	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08		26233291	132905372	31	55399											
AUTS2	26053	broad.mit.edu	37	chr7	70254942	70254942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgagcacaaggcgaaagagGgccacctgcccgagaaggac	14	1	14	12	3	0	2	0	0	0	2	0	6	0	3	3	3	2	1	3	3	3	0			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr7:70254942G>A	ENST00000342771.4	+	19	3061	c.2740G>A	c.(2740-2742)Ggc>Agc	p.G914S	AUTS2_ENST00000406775.2_Missense_Mutation_p.G890S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	914										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGCGAAAGAGGGCCACCTGCC	0.687													3	15					0	0	0	0	A	70254942	G	A	70254942	3	1	310	1	0	0	0	0	1	0	0	0	1229	1232	43	4	2959	4	AUTS2	7	70254942	Missense_Mutation	SNP	G	TCGA-CV-7416-01A-11D-2078-08	44021651	70254942	88883721	32	55400											
FLNC	2318	broad.mit.edu	37	chr7	128497288	128497288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtgtcctgagggccatGtggtcacttatactcccatg	7	11	13	10	0	1	1	1	1	0	0	3	2	3	2	3	3	1	0	3	3	2	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr7:128497288G>A	ENST00000325888.8	+	46	7939	c.7678G>A	c.(7678-7680)Gtg>Atg	p.V2560M	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.V2527M	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2560	Interaction with INPPL1.				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						TGAGGGCCATGTGGTCACTTA	0.607													16	71					0	0	0	0	A	128497288	G	A	128497288	3	1	310	1	0	0	0	0	1	0	0	0	5980	1377	48	4	7860	4	FLNC	7	128497288	Missense_Mutation	SNP	G	TCGA-CV-7416-01A-11D-2078-08	58242346	128497288	30641375	33	55401											
PKHD1L1	93035	broad.mit.edu	37	chr8	110441662	110441662	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaacatgtacttggagacCtacttcgtacacccagtcaa	13	9	7	12	1	1	1	1	0	0	1	2	3	1	1	2	1	4	2	2	1	5	5			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr8:110441662C>T	ENST00000378402.5	+	26	3198	c.3094C>T	c.(3094-3096)Cta>Tta	p.L1032L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1032					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTTGGAGACCTACTTCGTAC	0.323										HNSCC(38;0.096)			4	8					0	0	0	0	T	110441662	C	T	110441662	2	4	310	1	0	0	0	0	0	0	0	1	12044	680	24	4		4	PKHD1L1	8	110441662	Silent	SNP	C	TCGA-CV-7416-01A-11D-2078-08		110441662	35922360	34	55402											
GTF3C4	9329	broad.mit.edu	37	chr9	135553693	135553693	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctaaaaatgaggccccGgaaggaaatctcggggattt	12	9	11	9	2	2	1	0	1	2	0	4	4	2	4	2	5	0	0	2	5	5	2	rs138509726	byFrequency	TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr9:135553693G>A	ENST00000372146.4	+	2	1251	c.687G>A	c.(685-687)ccG>ccA	p.P229P	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	229					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ATGAGGCCCCGGAAGGAAATC	0.517													37	29					0	0	0	0	A	135553693	G	A	135553693	2	1	310	1	0	0	0	0	0	0	0	1	6925	1103	39	1		1	GTF3C4	9	135553693	Silent	SNP	G	TCGA-CV-7416-01A-11D-2078-08		135553693	5659738	35	55403											
FBXO18	84893	broad.mit.edu	37	chr10	5951214	5951214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccccgaggctgaggCgtgtgtgcggcaacacctcc	5	7	12	17	3	0	1	0	1	0	0	3	2	3	1	6	3	2	2	6	3	1	0			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr10:5951214C>T	ENST00000379999.5	+	6	1234	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379994.1_Missense_Mutation_p.A63V|FBXO18_ENST00000362091.4_Missense_Mutation_p.A326V|FBXO18_ENST00000470089.1_3'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	326					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GAGGCTGAGGCGTGTGTGCGG	0.612													11	19					0	0	0	0	T	5951214	C	T	5951214	3	4	310	1	0	0	0	0	1	0	0	0	5776	768	27	1	1157	1	FBXO18	10	5951214	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08		5951214	129583533	36	55404											
KIAA1462	57608	broad.mit.edu	37	chr10	30317939	30317939	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggctgaccgctggccccagCcttctcggtcggagactgct	5	8	13	15	3	1	2	0	1	1	1	3	3	1	2	4	4	2	3	4	4	0	1			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr10:30317939C>A	ENST00000375377.1	-	3	1239	c.1138G>T	c.(1138-1140)Gct>Tct	p.A380S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	380	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGGCCCCAGCCTTCTCGGTC	0.632													7	90					8.12818e-05	8.7595e-05	1	0	A	30317939	C	A	30317939	3	1	310	1	0	0	0	0	1	0	0	0	8285	739	26	4	2949	4	KIAA1462	10	30317939	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	24366725	30317939	105216808	37	55405											
COL17A1	1308	broad.mit.edu	37	chr10	105812854	105812854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtcccatggggccttctCgccctctctggcccatgggg	3	9	14	15	1	2	0	0	0	2	0	5	1	3	0	4	6	0	0	4	6	0	1			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr10:105812854C>T	ENST00000353479.5	-	23	2164	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	COL17A1_ENST00000369733.3_Missense_Mutation_p.R625Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	625	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGGCCTTCTCGCCCTCTCTG	0.597													34	50					0	0	0	0	T	105812854	C	T	105812854	3	4	310	1	0	0	0	0	1	0	0	0	3704	884	31	1	2755	1	COL17A1	10	105812854	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	75494915	105812854	29721893	38	55406											
ADAM12	8038	broad.mit.edu	37	chr10	127786990	127786990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccttggcttaccatgaCaattcccccagactggtctg	8	11	8	14	0	1	2	0	1	1	1	2	2	2	2	4	2	2	1	4	2	2	3			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr10:127786990C>A	ENST00000368679.4	-	10	1309	c.1000G>T	c.(1000-1002)Gtc>Ttc	p.V334F	ADAM12_ENST00000368676.4_Missense_Mutation_p.V334F	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	334	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTTACCATGACAATTCCCCCA	0.483													43	75					2.01872e-29	2.26341e-29	1	0	A	127786990	C	A	127786990	3	1	310	1	0	0	0	0	1	0	0	0	236	478	17	4	1893	4	ADAM12	10	127786990	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	21974136	127786990	7747757	39	55407											
OR51I1	390063	broad.mit.edu	37	chr11	5461808	5461808	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcagccttcctcaggcctGggatttatggaagaacttga	9	12	10	10	0	2	2	2	1	0	1	3	4	3	4	3	3	2	0	3	3	3	5			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr11:5461808G>C	ENST00000380211.1	-	1	936	c.937C>G	c.(937-939)Cag>Gag	p.Q313E	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCAGGCCTGGGATTTATGG	0.463													7	34					0	0	0	0	C	5461808	G	C	5461808	3	2	310	1	0	0	0	0	1	0	0	0	11171	1357	47	4	11	4	OR51I1	11	5461808	Missense_Mutation	SNP	G	TCGA-CV-7416-01A-11D-2078-08		5461808	129544708	40	55408											
KCNC1	3746	broad.mit.edu	37	chr11	17793574	17793574	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgctgggcttcctgcgCgtcgtccgcttcgtgcgcat	2	11	14	14	7	0	0	0	0	0	0	4	1	2	0	2	1	3	4	2	1	0	2	rs76882721	byFrequency	TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr11:17793574C>T	ENST00000379472.3	+	2	963	c.933C>T	c.(931-933)cgC>cgT	p.R311R	KCNC1_ENST00000265969.6_Silent_p.R311R	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	311						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCTTCCTGCGCGTCGTCCGCT	0.627													3	19					0	0	0	0	T	17793574	C	T	17793574	2	4	310	1	0	0	0	0	0	0	0	1	8067	755	27	1		1	KCNC1	11	17793574	Silent	SNP	C	TCGA-CV-7416-01A-11D-2078-08	12331766	17793574	117212942	41	55409											
HTATIP2	10553	broad.mit.edu	37	chr11	20404742	20404742	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaaagcgcatggctctctCaagccatgaccacattggag	11	7	12	11	1	2	1	1	1	1	0	3	3	2	3	2	3	2	2	2	3	2	1			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr11:20404742C>G	ENST00000451739.2	+	5	1161	c.720C>G	c.(718-720)ctC>ctG	p.L240L	HTATIP2_ENST00000419348.2_Silent_p.L274L|HTATIP2_ENST00000531058.1_Silent_p.L194L|HTATIP2_ENST00000421577.2_Silent_p.L240L|HTATIP2_ENST00000443524.2_Silent_p.L240L	NM_001098522.1	NP_001091992.1	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa	240					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity			large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ATGGCTCTCTCAAGCCATGAC	0.443													4	5					0	0	0	0	G	20404742	C	G	20404742	2	3	310	1	0	0	0	0	0	0	0	1	7485	813	29	2		2	HTATIP2	11	20404742	Silent	SNP	C	TCGA-CV-7416-01A-11D-2078-08	2611168	20404742	114601774	42	55410											
OR8H3	390152	broad.mit.edu	37	chr11	55890111	55890111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttagcgaacttactgaCttccaactatatttccttca	12	14	3	12	1	1	1	1	1	0	0	3	2	3	1	3	0	5	0	3	0	7	7			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr11:55890111C>T	ENST00000313472.3	+	1	263	c.263C>T	c.(262-264)aCt>aTt	p.T88I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AACTTACTGACTTCCAACTAT	0.423													69	290					0	0	0	0	T	55890111	C	T	55890111	3	4	310	1	0	0	0	0	1	0	0	0	11310	565	20	4	265	4	OR8H3	11	55890111	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	35485369	55890111	79116405	43	55411											
PGA5	5222	broad.mit.edu	37	chr11	61018663	61018663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccccaccgaatctggagaGctttggatcctgggtgatgt	7	11	13	10	1	1	2	0	1	1	1	3	5	3	3	4	3	1	1	4	3	1	1			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr11:61018663G>T	ENST00000312403.5	+	9	1262	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D	PGA5_ENST00000541528.1_Missense_Mutation_p.E99D|PGA4_ENST00000422676.2_Missense_Mutation_p.E359D|PGA5_ENST00000451616.2_Missense_Mutation_p.E205D	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	359					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						AATCTGGAGAGCTTTGGATCC	0.552													31	139					4.62619e-21	5.13507e-21	1	0	T	61018663	G	T	61018663	3	4	310	1	0	0	0	0	1	0	0	0	11844	962	34	4	1111	4	PGA5	11	61018663	Missense_Mutation	SNP	G	TCGA-CV-7416-01A-11D-2078-08	5128552	61018663	73987853	44	55412											
IQSEC3	440073	broad.mit.edu	37	chr12	247432	247432	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctgtcctcgtccttgcaGattgaaatgctagaacataa	11	13	7	10	1	1	3	0	1	1	2	5	3	3	3	2	0	3	2	2	0	4	4			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr12:247432G>A	ENST00000538872.1	+	4	1021		c.e4-1		IQSEC3_ENST00000326261.4_Splice_Site|IQSEC3_ENST00000382841.2_Splice_Site|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3						regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGTCCTTGCAGATTGAAATGC	0.612													3	28					0	0	0	0	A	247432	G	A	247432	5	1	310	1	0	0	0	0	0	0	1	0	7872	956	33	2	917	2	IQSEC3	12	247432	Splice_Site	SNP	G	TCGA-CV-7416-01A-11D-2078-08		247432	133604463	45	55413											
CACNA2D4	93589	broad.mit.edu	37	chr12	1995395	1995405	+	Frame_Shift_Del	DEL	GATATTAATGA	GATATTAATGA	-																															gaaggcacatttaccgctatGatattaatgaagtcattctc																								rs10735005	by1000genomes	TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr12:1995395_1995405delGATATTAATGA	ENST00000382722.5	-	8	1339_1349	c.977_987delTCATTAATATC	c.(976-987)tfs	p.FINI326fs	CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.FINI326fs|CACNA2D4_ENST00000588077.1_Frame_Shift_Del_p.FINI262fs|CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.FINI326fs|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Frame_Shift_Del_p.FINI262fs	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	326	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.F326F(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TTACCGCTATGATATTAATGAAGTCATTCTC	0.498													8	38	---	---	---	---					-	1995405	GATATTAATGA	-	1995395	7	5	310	1	0	1	0	1	0	0	0	0	2576	1280	45	0	2550	0	CACNA2D4	12	1995395	Frame_Shift_Del	DEL	GATATTAATGA	TCGA-CV-7416-01A-11D-2078-08	1747963	1995395	131856500	46	55414											
OR9K2	441639	broad.mit.edu	37	chr12	55523868	55523868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catctgttattgaacccaagGctatgatcaacttctggtct	10	14	7	10	0	4	2	1	2	3	0	4	2	4	2	1	2	2	2	1	2	5	4			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr12:55523868G>T	ENST00000305377.5	+	1	404	c.316G>T	c.(316-318)Gct>Tct	p.A106S		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGAACCCAAGGCTATGATCAA	0.423													19	70					2.35188e-11	2.5594e-11	1	0	T	55523868	G	T	55523868	3	4	310	1	0	0	0	0	1	0	0	0	11325	1203	42	4	318	4	OR9K2	12	55523868	Missense_Mutation	SNP	G	TCGA-CV-7416-01A-11D-2078-08	53528473	55523868	78328027	47	55415											
ORAI1	84876	broad.mit.edu	37	chr12	122079507	122079507	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacaggaccagctggaccaCagaggggaccaccccctgac	11	4	11	15	0	0	2	0	1	0	1	0	5	0	5	5	4	2	1	5	4	1	1			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr12:122079507C>G	ENST00000330079.7	+	2	1063	c.870C>G	c.(868-870)caC>caG	p.H290Q		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	288					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		AGCTGGACCACAGAGGGGACC	0.612													19	62					0	0	0	0	G	122079507	C	G	122079507	3	3	310	1	0	0	0	0	1	0	0	0	11328	477	17	4	876	4	ORAI1	12	122079507	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	66555639	122079507	11772388	48	55416											
DGKH	160851	broad.mit.edu	37	chr13	42761205	42761205	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacgctatgtgaaactgtaaAggacttcgttgccaaagtag	13	10	11	7	2	0	1	0	1	0	0	1	3	0	2	1	1	2	4	1	1	6	5			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr13:42761205A>C	ENST00000379274.2	+	14	1580	c.1151A>C	c.(1150-1152)aAg>aCg	p.K384T	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.K384T|DGKH_ENST00000538674.1_Missense_Mutation_p.K275T|DGKH_ENST00000337343.4_Missense_Mutation_p.K520T|DGKH_ENST00000261491.4_Missense_Mutation_p.K520T|DGKH_ENST00000540693.1_Missense_Mutation_p.K520T			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	520	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GAAACTGTAAAGGACTTCGTT	0.373													14	51					0	0	0	0	C	42761205	A	C	42761205	3	2	310	1	0	0	0	0	1	0	0	0	4507	72	3	5	1613	5	DGKH	13	42761205	Missense_Mutation	SNP	A	TCGA-CV-7416-01A-11D-2078-08		42761205	72408673	49	55417											
TRMT5	57570	broad.mit.edu	37	chr14	61442681	61442696	+	Frame_Shift_Del	DEL	TTCTTTGCTACTGGAA	TTCTTTGCTACTGGAA	-																															tggcaaatacagtgcagtttTtctttgctactggaatggca																										TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr14:61442681_61442696delTTCTTTGCTACTGGAA	ENST00000261249.6	-	4	1325_1340	c.941_956delTTCCAGTAGCAAAGAA	c.(940-957)aafs	p.IPVAKK314fs	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	314						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		AGTGCAGTTTTTCTTTGCTACTGGAATGGCAAAGGG	0.417													7	117	---	---	---	---					-	61442696	TTCTTTGCTACTGGAA	-	61442681	7	5	310	1	0	1	0	1	0	0	0	0	16662	1841	64	0	581	0	TRMT5	14	61442681	Frame_Shift_Del	DEL	TTCTTTGCTACTGGAA	TCGA-CV-7416-01A-11D-2078-08		61442681	45906859	50	55418											
NRXN3	9369	broad.mit.edu	37	chr14	80164200	80164200	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgacctccatgccaccagaaAtgtctactactgtcatggaa	12	9	7	13	1	2	1	1	0	1	1	3	3	3	2	4	1	3	0	4	1	4	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr14:80164200A>C	ENST00000281127.7	+	4	1708	c.829A>C	c.(829-831)Atg>Ctg	p.M277L	NRXN3_ENST00000554719.1_Missense_Mutation_p.M909L|NRXN3_ENST00000335750.5_Missense_Mutation_p.M909L|NRXN3_ENST00000557594.1_Missense_Mutation_p.M277L|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.M307L|RP11-242P2.1_ENST00000553322.1_RNA	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	277					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)		GCCACCAGAAATGTCTACTAC	0.453													8	47					0	0	0	0	C	80164200	A	C	80164200	3	2	310	1	0	0	0	0	1	0	0	0	10738	101	4	5	3120	5	NRXN3	14	80164200	Missense_Mutation	SNP	A	TCGA-CV-7416-01A-11D-2078-08	18721519	80164200	27185340	51	55419											
HERC2	8924	broad.mit.edu	37	chr15	28517376	28517376	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgtgcatgtcgccctcGgagtggggtgcatccttcct	4	11	12	14	3	1	0	1	0	0	0	5	1	3	1	3	3	2	2	3	3	0	1	rs141677977		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:28517376G>A	ENST00000261609.7	-	9	1176	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	356					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTCGCCCTCGGAGTGGGGTG	0.527													3	24					0	0	0	0	A	28517376	G	A	28517376	2	1	310	1	0	0	0	0	0	0	0	1	7108	1103	39	1		1	HERC2	15	28517376	Silent	SNP	G	TCGA-CV-7416-01A-11D-2078-08		28517376	74014016	52	55420											
UBR1	197131	broad.mit.edu	37	chr15	43330042	43330042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaccaacaccagacaacGtaaaggatattccactagta	17	6	7	11	1	0	1	0	0	0	1	1	2	1	2	3	2	3	3	3	2	8	5			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:43330042G>A	ENST00000290650.4	-	17	2029	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	UBR1_ENST00000382177.2_Missense_Mutation_p.R651C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	651					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCAGACAACGTAAAGGATAT	0.393													4	22					0	0	0	0	A	43330042	G	A	43330042	3	1	310	1	0	0	0	0	1	0	0	0	16997	1145	40	1	3422	1	UBR1	15	43330042	Missense_Mutation	SNP	G	TCGA-CV-7416-01A-11D-2078-08	14812666	43330042	59201350	53	55421											
ITGA11	22801	broad.mit.edu	37	chr15	68624774	68624774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagtcacgccgtcgccgtCgatgtccaccgaggtgattt	7	10	11	13	6	2	1	2	1	0	0	5	3	3	1	4	1	0	0	4	1	0	1			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:68624774C>T	ENST00000423218.2	-	13	1563	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N	ITGA11_ENST00000315757.7_Missense_Mutation_p.D490N			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	490					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CCGTCGCCGTCGATGTCCACC	0.602													6	9					0	0	0	0	T	68624774	C	T	68624774	3	4	310	1	0	0	0	0	1	0	0	0	7927	884	31	1	2170	1	ITGA11	15	68624774	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	25294732	68624774	33906618	54	55422											
CCDC33	80125	broad.mit.edu	37	chr15	74610933	74610933	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactgctagcagtaaagatGggggagccagggcccccatc	10	5	15	11	0	0	1	0	0	0	1	1	3	0	3	3	4	3	3	3	4	3	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:74610933G>A	ENST00000268082.4	+	1	23	c.3G>A	c.(1-3)atG>atA	p.M1I	CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000558821.1_Start_Codon_SNP_p.M1I			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	0							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAGTAAAGATGGGGGAGCCAG	0.632													10	17					0	0	0	0	A	74610933	G	A	74610933	1	1	310	1	0	0	0	0	0	0	0	0	2832	1348	47	4		4	CCDC33	15	74610933	Translation_Start_Site	SNP	G	TCGA-CV-7416-01A-11D-2078-08	5986159	74610933	27920459	55	55423											
C15orf27	123591	broad.mit.edu	37	chr15	76496314	76496314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactgcccgcgaggagccGtcctctgagcccggcccttc	5	6	12	18	4	1	1	0	1	1	0	3	3	2	2	5	2	4	1	5	2	0	1			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:76496314G>A	ENST00000388942.3	+	11	1530	c.1254G>A	c.(1252-1254)ccG>ccA	p.P418P		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	418						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GCGAGGAGCCGTCCTCTGAGC	0.701													10	28					0	0	0	0	A	76496314	G	A	76496314	2	1	310	1	0	0	0	0	0	0	0	1	1800	1132	40	1		1	C15orf27	15	76496314	Silent	SNP	G	TCGA-CV-7416-01A-11D-2078-08	1885381	76496314	26035078	56	55424											
SCAPER	49855	broad.mit.edu	37	chr15	76957999	76957999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtatttaaggtacctgaaGttcatccgggcttttatctt	8	16	10	7	1	2	1	1	1	1	0	3	1	3	1	2	3	1	4	2	3	5	8			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:76957999G>C	ENST00000538941.2	-	21	2841	c.1902C>G	c.(1900-1902)aaC>aaG	p.N634K	SCAPER_ENST00000324767.7_Missense_Mutation_p.N880K|SCAPER_ENST00000563290.1_Missense_Mutation_p.N880K	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	879	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GGTACCTGAAGTTCATCCGGG	0.328													2	3					0	0	0	0	C	76957999	G	C	76957999	3	2	310	1	0	0	0	0	1	0	0	0	13964	1020	36	4	1610	4	SCAPER	15	76957999	Missense_Mutation	SNP	G	TCGA-CV-7416-01A-11D-2078-08	461685	76957999	25573393	57	55425											
IL16	3603	broad.mit.edu	37	chr15	81598782	81598782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggccacagtctgcaCggtgacactggagaagatgt	12	6	14	9	1	1	4	0	1	1	3	1	5	1	4	1	3	2	2	1	3	1	0			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:81598782C>T	ENST00000394660.2	+	18	4058	c.3698C>T	c.(3697-3699)aCg>aTg	p.T1233M	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000302987.4_Missense_Mutation_p.T1234M|IL16_ENST00000394652.2_Missense_Mutation_p.T533M	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1234					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACAGTCTGCACGGTGACACTG	0.577													5	100					0	0	0	0	T	81598782	C	T	81598782	3	4	310	1	0	0	0	0	1	0	0	0	7686	536	19	1	3767	1	IL16	15	81598782	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	4640783	81598782	20932610	58	55426											
C15orf32	145858	broad.mit.edu	37	chr15	93016181	93016181	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctctcttgttttccacAgacacatcctcgacccaaag	9	13	4	15	1	1	1	0	0	1	1	6	2	4	1	4	0	0	1	4	0	1	4			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:93016181A>G	ENST00000333334.2	+	2	869		c.e2-1		C15orf32_ENST00000556865.1_Splice_Site	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32											endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TGTTTTCCACAGACACATCCT	0.493													21	68					0	0	0	0	G	93016181	A	G	93016181	5	3	310	1	0	0	0	0	0	0	1	0	1802	202	7	5	379	5	C15orf32	15	93016181	Splice_Site	SNP	A	TCGA-CV-7416-01A-11D-2078-08	11417399	93016181	9515211	59	55427											
MTSS1L	92154	broad.mit.edu	37	chr16	70712271	70712271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggtacatgtcgttgacgtCctgcagggcactgtccagct	7	10	12	12	2	0	1	0	1	0	0	3	1	2	1	2	2	3	5	2	2	1	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr16:70712271C>T	ENST00000338779.6	-	8	782	c.508G>A	c.(508-510)Gac>Aac	p.D170N		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	170	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCGTTGACGTCCTGCAGGGCA	0.662													12	46					0	0	0	0	T	70712271	C	T	70712271	3	4	310	1	0	0	0	0	1	0	0	0	10033	855	30	2	1767	2	MTSS1L	16	70712271	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08		70712271	19642482	60	55428											
CHST6	4166	broad.mit.edu	37	chr16	75512907	75512907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggctcccgcgccaggtcctCgaagcgcaccaggcggtagc	6	4	14	17	6	0	0	0	0	0	0	3	1	2	0	4	4	2	3	4	4	2	1	rs72547538		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr16:75512907C>T	ENST00000332272.4	-	3	999	c.820G>A	c.(820-822)Gag>Aag	p.E274K	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.E274K	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	274			E -> K (in MCD; abolishes ability to sulfate keratan).		keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCAGGTCCTCGAAGCGCACC	0.672													5	60					0	0	0	0	T	75512907	C	T	75512907	3	4	310	1	0	0	0	0	1	0	0	0	3437	893	31	1	371	1	CHST6	16	75512907	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	4800636	75512907	14841846	61	55429											
CNTNAP4	85445	broad.mit.edu	37	chr16	76513352	76513352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgaagcctataagcacaGaggaaatacttcagggtttt	14	11	10	6	0	1	2	1	1	0	1	1	3	1	3	1	2	3	2	1	2	5	6			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr16:76513352G>A	ENST00000307431.8	+	13	2181	c.1796G>A	c.(1795-1797)aGa>aAa	p.R599K	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R551K|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R603K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R527K	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	600	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TATAAGCACAGAGGAAATACT	0.343													16	81					0	0	0	0	A	76513352	G	A	76513352	3	1	310	1	0	0	0	0	1	0	0	0	3679	942	33	2	1858	2	CNTNAP4	16	76513352	Missense_Mutation	SNP	G	TCGA-CV-7416-01A-11D-2078-08	1000445	76513352	13841401	62	55430											
OR1D2	4991	broad.mit.edu	37	chr17	2995956	2995966	+	Frame_Shift_Del	DEL	TTGTCCAGGGC	TTGTCCAGGGC	-																															ccatcacagccaggatgaggTtgtccagggccaccaaggag																								rs138671819		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:2995956_2995966delTTGTCCAGGGC	ENST00000331459.1	-	1	324_334	c.325_335delGCCCTGGACAA	c.(325-336)cfs	p.ALDN109fs		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	109					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.A109T(1)|p.A109A(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CAGGATGAGGTTGTCCAGGGCCACCAAGGAG	0.54													22	73	---	---	---	---					-	2995966	TTGTCCAGGGC	-	2995956	7	5	310	1	0	1	0	1	0	0	0	0	11024	1725	60	0	606	0	OR1D2	17	2995956	Frame_Shift_Del	DEL	TTGTCCAGGGC	TCGA-CV-7416-01A-11D-2078-08		2995956	78199254	63	55431											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	21					0	0	0	0	T	7578406	C	T	7578406	3	4	310	1	0	0	0	0	1	0	0	0	16476	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	4582450	7578406	73616804	64	55432											
TAOK1	57551	broad.mit.edu	37	chr17	27849481	27849481	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatataataagcgaagagaaCgagaactaagacgaaagcat	22	5	9	5	3	0	3	0	0	0	3	0	7	0	3	0	0	4	1	0	0	9	4			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:27849481C>T	ENST00000261716.3	+	17	2611	c.2092C>T	c.(2092-2094)Cga>Tga	p.R698*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	698					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GCGAAGAGAACGAGAACTAAG	0.428													12	48					0	0	0	0	T	27849481	C	T	27849481	4	4	310	1	0	0	0	0	0	1	0	0	15638	528	19	1	2154	1	TAOK1	17	27849481	Nonsense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	20271075	27849481	53345729	65	55433											
KRT24	192666	broad.mit.edu	37	chr17	38855898	38855898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgtgtcagccagggttcCctccagggagcttttctaag	6	13	11	11	0	3	0	1	0	2	0	5	1	5	1	3	2	2	2	3	2	1	5			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:38855898C>T	ENST00000264651.2	-	6	1215	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	387	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GCCAGGGTTCCCTCCAGGGAG	0.423													29	55					0	0	0	0	T	38855898	C	T	38855898	3	4	310	1	0	0	0	0	1	0	0	0	8513	632	22	4	430	4	KRT24	17	38855898	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	11006417	38855898	42339312	66	55434											
KIF19	124602	broad.mit.edu	37	chr17	72322500	72322500	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaatcatgaaggacagCggggactccaaggaccagca	13	4	13	11	1	1	1	1	1	0	0	2	4	2	4	2	4	3	3	2	4	3	0			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:72322500C>T	ENST00000389916.4	+	1	150	c.12C>T	c.(10-12)agC>agT	p.S4S		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	4					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TGAAGGACAGCGGGGACTCCA	0.672													11	51					0	0	0	0	T	72322500	C	T	72322500	2	4	310	1	0	0	0	0	0	0	0	1	8333	767	27	1		1	KIF19	17	72322500	Silent	SNP	C	TCGA-CV-7416-01A-11D-2078-08	33466602	72322500	8872710	67	55435											
CCDC40	55036	broad.mit.edu	37	chr17	78073373	78073373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacgccttaagcacctgcaGgctgtgaaggaggggcgcta	10	6	14	11	2	0	1	0	1	0	0	0	2	0	2	2	4	2	4	2	4	3	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:78073373G>A	ENST00000397545.4	+	20	3255	c.3228G>A	c.(3226-3228)caG>caA	p.Q1076Q		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1076					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCACCTGCAGGCTGTGAAGG	0.572													13	41					0	0	0	0	A	78073373	G	A	78073373	2	1	310	1	0	0	0	0	0	0	0	1	2838	991	35	4		4	CCDC40	17	78073373	Silent	SNP	G	TCGA-CV-7416-01A-11D-2078-08	5750873	78073373	3121837	68	55436											
TMEM161A	54929	broad.mit.edu	37	chr19	19231608	19231608	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagtgtgcagttgagggtGaggatgagcggcgtcaggta	10	8	19	4	2	1	4	1	3	0	1	1	5	1	5	0	4	2	3	0	4	2	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:19231608G>A	ENST00000450333.2	-	9	880	c.843C>T	c.(841-843)ctC>ctT	p.L281L	TMEM161A_ENST00000587583.2_Silent_p.L359L|TMEM161A_ENST00000162044.9_Silent_p.L384L	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	384					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			AGTTGAGGGTGAGGATGAGCG	0.612													7	46					0	0	0	0	A	19231608	G	A	19231608	2	1	310	1	0	0	0	0	0	0	0	1	16170	1277	45	2		2	TMEM161A	19	19231608	Silent	SNP	G	TCGA-CV-7416-01A-11D-2078-08		19231608	39897375	69	55437											
ZNF493	284443	broad.mit.edu	37	chr19	21607093	21607093	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacactggagaaaaaccCtacaaatgtgaagaatgtgg	17	8	9	7	0	1	3	1	1	0	2	1	4	1	3	1	2	2	0	1	2	6	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:21607093C>A	ENST00000392288.2	+	4	1741	c.1632C>A	c.(1630-1632)ccC>ccA	p.P544P	ZNF493_ENST00000355504.4_Silent_p.P416P|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAGAAAAACCCTACAAATGTG	0.358													4	11					0.00909568	0.00943571	1	0	A	21607093	C	A	21607093	2	1	310	1	0	0	0	0	0	0	0	1	18039	668	24	4		4	ZNF493	19	21607093	Silent	SNP	C	TCGA-CV-7416-01A-11D-2078-08	2375485	21607093	37521890	70	55438											
RYR1	6261	broad.mit.edu	37	chr19	38948883	38948883	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctggggcggcaacggggtCggcgatgacctctattccta	6	8	16	11	4	1	1	0	1	1	0	3	2	2	1	2	7	1	2	2	7	3	3			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:38948883C>T	ENST00000355481.4	+	18	2249	c.2118C>T	c.(2116-2118)gtC>gtT	p.V706V	RYR1_ENST00000360985.3_Silent_p.V706V|RYR1_ENST00000359596.3_Silent_p.V706V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	706	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAACGGGGTCGGCGATGACC	0.657													24	51					0	0	0	0	T	38948883	C	T	38948883	2	4	310	1	0	0	0	0	0	0	0	1	13853	871	31	1		1	RYR1	19	38948883	Silent	SNP	C	TCGA-CV-7416-01A-11D-2078-08	17341790	38948883	20180100	71	55439											
SHKBP1	92799	broad.mit.edu	37	chr19	41086523	41086527	+	Frame_Shift_Del	DEL	GGATC	GGATC	-																															ggtgtgtggacaccataattGgatcgctgtggcctataccc																										TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:41086523_41086527delGGATC	ENST00000291842.5	+	8	663_667	c.614_618delGGATC	c.(613-618)tfs	p.WI205fs	SHKBP1_ENST00000600733.1_Frame_Shift_Del_p.WI205fs	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	205						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCATAATTGGATCGCTGTGGCCT	0.595													8	41	---	---	---	---					-	41086527	GGATC	-	41086523	7	5	310	1	0	1	0	1	0	0	0	0	14372	1357	47	0	644	0	SHKBP1	19	41086523	Frame_Shift_Del	DEL	GGATC	TCGA-CV-7416-01A-11D-2078-08	2137640	41086523	18042460	72	55440											
KPTN	11133	broad.mit.edu	37	chr19	47984035	47984035	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctactggtcaggttcgtcAgctctgggaagaggttttcc	7	12	12	10	1	3	1	2	0	1	1	5	2	4	2	2	4	2	3	2	4	2	4			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:47984035A>G	ENST00000338134.3	-	6	688	c.581T>C	c.(580-582)cTg>cCg	p.L194P	KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	194					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CAGGTTCGTCAGCTCTGGGAA	0.587													25	101					0	0	0	0	G	47984035	A	G	47984035	3	3	310	1	0	0	0	0	1	0	0	0	8489	188	7	5	757	5	KPTN	19	47984035	Missense_Mutation	SNP	A	TCGA-CV-7416-01A-11D-2078-08	6897512	47984035	11144948	73	55441											
DBP	1628	broad.mit.edu	37	chr19	49134221	49134221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggaaggccgcccgcaccGatatctggttctccttgagc	7	8	11	15	3	2	1	0	1	2	0	3	3	2	2	5	3	1	2	5	3	2	3			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:49134221G>A	ENST00000222122.5	-	4	1294	c.851C>T	c.(850-852)tCg>tTg	p.S284L	DBP_ENST00000599385.1_Missense_Mutation_p.S82L|DBP_ENST00000593500.1_Missense_Mutation_p.S82L	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	284					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CGCCCGCACCGATATCTGGTT	0.647													3	8					0	0	0	0	A	49134221	G	A	49134221	3	1	310	1	0	0	0	0	1	0	0	0	4289	1059	37	1	130	1	DBP	19	49134221	Missense_Mutation	SNP	G	TCGA-CV-7416-01A-11D-2078-08	1150186	49134221	9994762	74	55442											
PPP2R1A	5518	broad.mit.edu	37	chr19	52722988	52722988	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctctaacctggactgtgtGaacgaggtgattggcatccg	9	11	12	9	2	1	2	0	2	1	0	3	4	2	3	2	3	2	1	2	3	2	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:52722988G>A	ENST00000322088.6	+	10	1231	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V	PPP2R1A_ENST00000462990.1_Silent_p.V212V|PPP2R1A_ENST00000444322.2_Silent_p.V336V	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	391	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGACTGTGTGAACGAGGTGA	0.577			Mis		clear cell ovarian carcinoma								11	22					0	0	0	0	A	52722988	G	A	52722988	2	1	310	1	0	0	0	0	0	0	0	1	12458	1277	45	2		2	PPP2R1A	19	52722988	Silent	SNP	G	TCGA-CV-7416-01A-11D-2078-08	3588767	52722988	6405995	75	55443											
ZNF667	63934	broad.mit.edu	37	chr19	56952582	56952582	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcgaatcagggatgaactCcgactatatgccttcccaca	11	10	8	12	2	1	1	1	1	0	0	4	4	3	2	3	1	2	0	3	1	4	3			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:56952582C>A	ENST00000504904.3	-	7	2501	c.1782G>T	c.(1780-1782)cgG>cgT	p.R594R	ZNF667_ENST00000342634.3_Silent_p.R722R|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Silent_p.R594R			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGGATGAACTCCGACTATATG	0.388													21	42					7.87624e-14	8.65607e-14	1	0	A	56952582	C	A	56952582	2	1	310	1	0	0	0	0	0	0	0	1	18169	842	30	2		2	ZNF667	19	56952582	Silent	SNP	C	TCGA-CV-7416-01A-11D-2078-08	4229594	56952582	2176401	76	55444											
ZNF329	79673	broad.mit.edu	37	chr19	58639326	58639326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggaacatttttccacaCtgaggacaccggctgggacc	9	11	10	11	1	0	1	0	1	0	0	1	4	1	4	3	4	1	1	3	4	1	4			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:58639326C>T	ENST00000598312.1	-	4	1778	c.1545G>A	c.(1543-1545)caG>caA	p.Q515Q	ZNF329_ENST00000358067.4_Silent_p.Q515Q	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTTTTCCACACTGAGGACACC	0.512													29	72					0	0	0	0	T	58639326	C	T	58639326	2	4	310	1	0	0	0	0	0	0	0	1	17942	564	20	4		4	ZNF329	19	58639326	Silent	SNP	C	TCGA-CV-7416-01A-11D-2078-08	1686744	58639326	489657	77	55445											
SAMHD1	25939	broad.mit.edu	37	chr20	35580031	35580032	+	In_Frame_Ins	INS	-	-	ATC																															cgcttggagggctgctcggaINSatcggctcgctgcatggcta																										TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr20:35580031_35580032insATC	ENST00000262878.4	-	1	214_215	c.15_16insGAT	c.(13-18)gaccga>gaGATccga	p.5_5D>EI	SAMHD1_ENST00000373694.5_De_novo_Start_InFrame	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	5					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GGCTGCTCGGAATCGGCTCGCT	0.693													42	281	---	---	---	---					ATC	35580032	-	ATC	35580031	7	5	310	1	0	1	1	0	0	0	0	0	13913	246	9	0	1928	0	SAMHD1	20	35580031	In_Frame_Ins	INS	-	TCGA-CV-7416-01A-11D-2078-08		35580031	27445489	78	55446											
COL18A1	80781	broad.mit.edu	37	chr21	46899995	46899995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttcccagggagaccctggGgttggagagagagggccccc	7	6	17	11	0	0	3	0	0	0	3	1	6	1	3	4	5	0	2	4	5	0	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr21:46899995G>A	ENST00000359759.4	+	10	2589	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G	COL18A1_ENST00000400337.2_Silent_p.G441G|COL18A1_ENST00000355480.5_Silent_p.G621G			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	856	Triple-helical region 2 (COL2).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAGACCCTGGGGTTGGAGAGA	0.657													3	47					0	0	0	0	A	46899995	G	A	46899995	2	1	310	1	0	0	0	0	0	0	0	1	3705	1219	43	4		4	COL18A1	21	46899995	Silent	SNP	G	TCGA-CV-7416-01A-11D-2078-08		46899995	1229900	79	55447											
CECR1	51816	broad.mit.edu	37	chr22	17670900	17670900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccattcggatggattctgCgatgacagccacatctttgg	8	11	12	10	2	2	1	0	1	2	0	3	4	2	3	2	4	2	0	2	4	0	3			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr22:17670900C>T	ENST00000399839.1	-	6	1174	c.904G>A	c.(904-906)Gca>Aca	p.A302T	CECR1_ENST00000449907.2_Missense_Mutation_p.A260T|CECR1_ENST00000330232.4_Missense_Mutation_p.A61T|CECR1_ENST00000262607.3_Missense_Mutation_p.A302T|CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000399837.2_Missense_Mutation_p.A302T			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	302					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATGGATTCTGCGATGACAGCC	0.577													10	37					0	0	0	0	T	17670900	C	T	17670900	3	4	310	1	0	0	0	0	1	0	0	0	3234	768	27	1	651	1	CECR1	22	17670900	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08		17670900	33633666	80	55448											
GNB1L	54584	broad.mit.edu	37	chr22	19789706	19789706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgatccatcctcatagcCggccagaaggagtgggcggg	9	5	14	13	3	1	1	1	0	0	1	3	3	3	2	5	4	1	0	5	4	2	1			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr22:19789706C>T	ENST00000329517.6	-	7	786	c.550G>A	c.(550-552)Ggc>Agc	p.G184S	GNB1L_ENST00000403325.1_Missense_Mutation_p.G184S|GNB1L_ENST00000405009.1_Missense_Mutation_p.G184S|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	184					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TCCTCATAGCCGGCCAGAAGG	0.622													12	31					0	0	0	0	T	19789706	C	T	19789706	3	4	310	1	0	0	0	0	1	0	0	0	6567	652	23	1	441	1	GNB1L	22	19789706	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	2118806	19789706	31514860	81	55449											
MCAT	27349	broad.mit.edu	37	chr22	43539128	43539128	+	Frame_Shift_Del	DEL	C	C	-																															tgagcagaccgcggcccatgCccaccacctggctgccctgg																										TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr22:43539128delC	ENST00000290429.5	-	1	272	c.227delG	c.(226-228)gcfs	p.G76fs	MCAT_ENST00000327555.5_Frame_Shift_Del_p.G76fs|MCAT_ENST00000464244.1_5'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	76					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GCGGCCCATGCCCACCACCTG	0.746													2	4	---	---	---	---					-	43539128	C	-	43539128	7	5	310	1	0	1	0	1	0	0	0	0	9441	739	26	0	961	0	MCAT	22	43539128	Frame_Shift_Del	DEL	C	TCGA-CV-7416-01A-11D-2078-08	23749422	43539128	7765438	82	55450											
POLA1	5422	broad.mit.edu	37	chrX	24745918	24745918	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctcttgaatcagccagtCagttggtgtaaagttgaggc	10	11	13	7	0	3	2	2	2	1	0	3	3	3	2	1	2	2	4	1	2	3	4			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:24745918C>G	ENST00000379068.3	+	15	1594	c.1551C>G	c.(1549-1551)gtC>gtG	p.V517V	POLA1_ENST00000379059.3_Silent_p.V511V|POLA1_ENST00000493342.1_3'UTR			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	511					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ATCAGCCAGTCAGTTGGTGTA	0.388													8	46					0	0	0	0	G	24745918	C	G	24745918	2	3	310	1	0	0	0	0	0	0	0	1	12259	813	29	2		2	POLA1	23	24745918	Silent	SNP	C	TCGA-CV-7416-01A-11D-2078-08		24745918	130524642	83	55451											
ZC4H2	55906	broad.mit.edu	37	chrX	64196325	64196325	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagggatacaatagacaCaatgtagccacctcctccgg	13	6	9	13	1	0	1	0	0	0	1	2	2	2	2	5	2	2	1	5	2	6	3			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:64196325C>T	ENST00000374839.3	-	0	39				ZC4H2_ENST00000545618.1_De_novo_Start_InFrame|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Intron|ZC4H2_ENST00000447788.2_De_novo_Start_OutOfFrame	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing								metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACAATAGACACAATGTAGCCA	0.527													10	20					0	0	0	0	T	64196325	C	T	64196325	1	4	310	1	0	0	0	0	0	0	0	0	17673	493	17	4		4	ZC4H2	23	64196325	Translation_Start_Site	SNP	C	TCGA-CV-7416-01A-11D-2078-08	39450407	64196325	91074235	84	55452											
FAM155B	27112	broad.mit.edu	37	chrX	68749788	68749788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctagaggagggcctgacaCgggaagagtgacagtaggga	12	4	17	8	1	0	4	0	2	0	2	0	7	0	7	2	4	0	1	2	4	3	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:68749788C>T	ENST00000252338.4	+	3	1450	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	471						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GGGCCTGACACGGGAAGAGTG	0.632													3	21					0	0	0	0	T	68749788	C	T	68749788	3	4	310	1	0	0	0	0	1	0	0	0	5507	527	19	1	1418	1	FAM155B	23	68749788	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	4553463	68749788	86520772	85	55453											
BRWD3	254065	broad.mit.edu	37	chrX	79960224	79960224	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctttcttctagggactTcaaattttcctcatcagagc	8	15	6	12	0	5	1	3	0	2	1	6	2	6	2	2	1	2	0	2	1	2	6			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:79960224T>A	ENST00000373275.4	-	23	2890	c.2674A>T	c.(2674-2676)Aag>Tag	p.K892*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	892										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTAGGGACTTCAAATTTTCC	0.348													16	444					0	0	0	0	A	79960224	T	A	79960224	4	1	310	1	0	0	0	0	0	1	0	0	1534	1792	62	5	2810	5	BRWD3	23	79960224	Nonsense_Mutation	SNP	T	TCGA-CV-7416-01A-11D-2078-08	11210436	79960224	75310336	86	55454											
BRWD3	254065	broad.mit.edu	37	chrX	80001189	80001189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggaaaatatgaccaaagCgactacagccggttaattgc	16	7	10	8	2	0	1	0	1	0	0	0	3	0	2	2	2	4	1	2	2	7	4			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:80001189C>T	ENST00000373275.4	-	7	686	c.470G>A	c.(469-471)cGc>cAc	p.R157H		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	157										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATGACCAAAGCGACTACAGCC	0.373													184	15					0	0	0	0	T	80001189	C	T	80001189	3	4	310	1	0	0	0	0	1	0	0	0	1534	768	27	1	5078	1	BRWD3	23	80001189	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	40965	80001189	75269371	87	55455											
POU3F4	5456	broad.mit.edu	37	chrX	82763808	82763808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctccagctgccgcctctgCacagagcctgcacccggtgc	6	6	10	19	2	1	1	0	0	1	1	2	1	2	1	6	1	6	3	6	1	0	0			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:82763808C>T	ENST00000373200.2	+	1	540	c.476C>T	c.(475-477)gCa>gTa	p.A159V	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	159					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCCGCCTCTGCACAGAGCCTG	0.657													6	63					0	0	0	0	T	82763808	C	T	82763808	3	4	310	1	0	0	0	0	1	0	0	0	12348	710	25	4	478	4	POU3F4	23	82763808	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	2762619	82763808	72506752	88	55456											
TEX13A	56157	broad.mit.edu	37	chrX	104463741	104463741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaccaagggcagtcccagtCccctggcctgcgatatactg	9	7	10	15	1	0	0	0	0	0	0	2	1	2	0	5	2	2	1	5	2	3	2			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:104463741C>T	ENST00000413579.1	-	5	1246	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_3'UTR|TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	379						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CAGTCCCAGTCCCCTGGCCTG	0.532													11	83					0	0	0	0	T	104463741	C	T	104463741	3	4	310	1	0	0	0	0	1	0	0	0	15870	842	30	2	98	2	TEX13A	23	104463741	Missense_Mutation	SNP	C	TCGA-CV-7416-01A-11D-2078-08	21699933	104463741	50806819	89	55457											
MAGEC1	9947	broad.mit.edu	37	chrX	140995293	140995293	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagagtcctcttgagggAgaggactccctgtcttctct	6	12	10	13	0	4	3	1	1	3	2	7	5	6	4	3	2	0	0	3	2	0	2	rs147024850		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:140995293A>T	ENST00000285879.4	+	4	2389	c.2103A>T	c.(2101-2103)ggA>ggT	p.G701G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	701							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTTGAGGGAGAGGACTCCC	0.567										HNSCC(15;0.026)			19	43					0	0	0	0	T	140995293	A	T	140995293	2	4	310	1	0	0	0	0	0	0	0	1	9249	291	11	5		5	MAGEC1	23	140995293	Silent	SNP	A	TCGA-CV-7416-01A-11D-2078-08	36531552	140995293	14275267	90	55458											
PLEKHM2	23207	broad.mit.edu	37	chr1	16046240	16046240	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcctcaggatgccccttaCctagacctggccccctacat	7	10	6	18	0	2	1	1	0	1	1	3	2	2	2	7	2	3	0	7	2	3	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:16046240C>T	ENST00000375799.3	+	6	704	c.477C>T	c.(475-477)taC>taT	p.Y159Y	PLEKHM2_ENST00000375793.2_Silent_p.Y159Y	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	159	Interaction with KIF5B.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ATGCCCCTTACCTAGACCTGG	0.607													27	20					0	0	0	0	T	16046240	C	T	16046240	2	4	311	1	0	0	0	0	0	0	0	1	12153	518	18	4		4	PLEKHM2	1	16046240	Silent	SNP	C	TCGA-CV-7418-01A-11D-2078-08		16046240	233204381	1	55459											
SRRM1	10250	broad.mit.edu	37	chr1	24978993	24978993	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	accttctccggaaaaaaattCcaaaaaagaaaaggagaagg	21	5	8	7	1	1	2	0	0	1	2	3	4	2	3	3	3	0	0	3	3	9	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:24978993C>G	ENST00000323848.9	+	7	1109	c.794C>G	c.(793-795)tCc>tGc	p.S265C	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.S265C|SRRM1_ENST00000374389.4_Missense_Mutation_p.S265C|SRRM1_ENST00000537199.1_Missense_Mutation_p.S134C	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	265	Arg-rich.|Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GAAAAAAATTCCAAAAAAGAA	0.448													10	11					0	0	0	0	G	24978993	C	G	24978993	3	3	311	1	0	0	0	0	1	0	0	0	15258	855	30	2	820	2	SRRM1	1	24978993	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	8932753	24978993	224271628	2	55460											
COL16A1	1307	broad.mit.edu	37	chr1	32140630	32140630	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaggaggtgctgttcaattGgtaaggatccctgcaagaga	12	10	13	6	0	1	1	1	0	0	1	2	4	2	3	1	4	2	4	1	4	4	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:32140630G>C	ENST00000373672.3	-	44	3353	c.2837C>G	c.(2836-2838)cCa>cGa	p.P946R	COL16A1_ENST00000271069.6_Intron	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	946	Nonhelical region 4 (NC4).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGTTCAATTGGTAAGGATCC	0.542													7	11					0	0	0	0	C	32140630	G	C	32140630	3	2	311	1	0	0	0	0	1	0	0	0	3703	1348	47	4	2089	4	COL16A1	1	32140630	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	7161637	32140630	217109991	3	55461											
IQCC	55721	broad.mit.edu	37	chr1	32671343	32671343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtgcgggggcgggcgcggGgttcacaggatttttccttt	4	11	18	8	4	1	0	1	0	0	0	2	1	2	1	1	7	1	1	1	7	0	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:32671343G>A	ENST00000537469.1	+	1	108	c.61G>A	c.(61-63)Ggt>Agt	p.G21S	IQCC_ENST00000291358.6_Intron|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	31	IQ.									endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCGGGCGCGGGGTTCACAGGA	0.632													3	8					0	0	0	0	A	32671343	G	A	32671343	3	1	311	1	0	0	0	0	1	0	0	0	7857	1232	43	4	63	4	IQCC	1	32671343	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	530713	32671343	216579278	4	55462											
CYP2J2	1573	broad.mit.edu	37	chr1	60392390	60392390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccactgcccagagggcaGccgccagagagcccatcgcc	9	2	13	17	2	0	2	0	0	0	2	1	4	0	3	6	2	3	1	6	2	0	0	rs146801076	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:60392390G>A	ENST00000371204.3	-	1	72	c.29C>T	c.(28-30)gCt>gTt	p.A10V		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	10					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					CCAGAGGGCAGCCGCCAGAGA	0.657													4	9					0	0	0	0	A	60392390	G	A	60392390	3	1	311	1	0	0	0	0	1	0	0	0	4204	971	34	4	1515	4	CYP2J2	1	60392390	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	27721047	60392390	188858231	5	55463											
NBPF9	400818	broad.mit.edu	37	chr1	144828684	144828684	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttactcatttgaggaacAgcacatcagcttcgcccttt	9	14	7	11	1	2	1	2	1	0	0	3	2	2	2	1	1	4	3	1	1	2	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:144828684A>G	ENST00000338347.4	+	14	1730	c.1730A>G	c.(1729-1731)cAg>cGg	p.Q577R	NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Q175R					neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						TTTGAGGAACAGCACATCAGC	0.433													11	388					0	0	0	0	G	144828684	A	G	144828684	3	3	311	1	0	0	0	0	1	0	0	0	10269	188	7	5	2805	5	NBPF9	1	144828684	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	84436294	144828684	104421937	6	55464											
ATP1A4	480	broad.mit.edu	37	chr1	160156092	160156095	+	Frame_Shift_Del	DEL	CCTA	CCTA	-																															ctggtggctctgtgccattcCctacagtattctcatcttcg																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:160156092_160156095delCCTA	ENST00000368081.4	+	21	3467_3470	c.2996_2999delCCTA	c.(2995-3000)ccfs	p.PY999fs	ATP1A4_ENST00000470705.1_Frame_Shift_Del_p.PY135fs	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	999				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGCCATTCCCTACAGTATTCTC	0.549													16	615	---	---	---	---					-	160156095	CCTA	-	160156092	7	5	311	1	0	1	0	1	0	0	0	0	1135	623	22	0	3078	0	ATP1A4	1	160156092	Frame_Shift_Del	DEL	CCTA	TCGA-CV-7418-01A-11D-2078-08	15327408	160156092	89094529	7	55465											
GPR161	23432	broad.mit.edu	37	chr1	168074064	168074068	+	Frame_Shift_Del	DEL	AGCTG	AGCTG	-																															attactcagctccttcctgcAgctgagggaggagttgaggc																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:168074064_168074068delAGCTG	ENST00000367838.1	-	4	334_338	c.21_25delCAGCT	c.(19-27)ctgcfs	p.LSC7fs	GPR161_ENST00000539777.1_Intron|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000537209.1_Frame_Shift_Del_p.LSC27fs|GPR161_ENST00000367835.1_Frame_Shift_Del_p.LSC7fs|GPR161_ENST00000271357.5_Frame_Shift_Del_p.LSC7fs|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000361697.2_Frame_Shift_Del_p.LSC7fs	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	7					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TCCTTCCTGCAGCTGAGGGAGGAGT	0.566													22	892	---	---	---	---					-	168074068	AGCTG	-	168074064	7	5	311	1	0	1	0	1	0	0	0	0	6714	188	7	0	1584	0	GPR161	1	168074064	Frame_Shift_Del	DEL	AGCTG	TCGA-CV-7418-01A-11D-2078-08	7917972	168074064	81176557	8	55466											
ASPM	259266	broad.mit.edu	37	chr1	197091324	197091324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttgacatatctgaatGattaatcatagcaggtattc	13	16	7	5	0	2	3	1	3	1	0	3	3	2	3	0	1	1	3	0	1	6	7			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:197091324G>T	ENST00000367409.4	-	15	3962	c.3706C>A	c.(3706-3708)Cat>Aat	p.H1236N	ASPM_ENST00000367408.1_Missense_Mutation_p.H486N|ASPM_ENST00000294732.7_Missense_Mutation_p.H1236N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1236					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATATCTGAATGATTAATCATA	0.308													10	40					0.000978159	0.00103379	1	0	T	197091324	G	T	197091324	3	4	311	1	0	0	0	0	1	0	0	0	1060	1290	45	2	6783	2	ASPM	1	197091324	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	29017260	197091324	52159297	9	55467											
ZC3H11A	9877	broad.mit.edu	37	chr1	203786208	203786208	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctacccagcatgcctaatCaaggagaagactgctatttt	13	11	7	10	0	2	2	1	0	1	2	2	3	2	2	2	1	4	2	2	1	5	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:203786208C>G	ENST00000545588.1	+	2	3837	c.10C>G	c.(10-12)Caa>Gaa	p.Q4E	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q4E|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q4E|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q4E|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q4E	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	4							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CATGCCTAATCAAGGAGAAGA	0.388													16	89					0	0	0	0	G	203786208	C	G	203786208	3	3	311	1	0	0	0	0	1	0	0	0	17655	827	29	2	12	2	ZC3H11A	1	203786208	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	6694884	203786208	45464413	10	55468											
TMCC2	9911	broad.mit.edu	37	chr1	205210771	205210771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcagcagggtatgtccGaccatgactccccagatgag	11	6	12	12	1	0	3	0	2	0	1	2	4	2	3	4	1	3	4	4	1	1	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:205210771G>T	ENST00000358024.3	+	2	735	c.346G>T	c.(346-348)Gac>Tac	p.D116Y	TMCC2_ENST00000545499.1_Missense_Mutation_p.D38Y|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	116						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGGTATGTCCGACCATGACTC	0.637													6	38					0.00116845	0.0012233	1	0	T	205210771	G	T	205210771	3	4	311	1	0	0	0	0	1	0	0	0	16087	1058	37	3	352	3	TMCC2	1	205210771	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	1424563	205210771	44039850	11	55469											
NID1	4811	broad.mit.edu	37	chr1	236205526	236205526	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacgtctgcaggcaccacGccattggtggtggctggact	7	9	13	12	2	2	0	1	0	1	0	2	1	2	1	2	5	1	3	2	5	0	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:236205526G>A	ENST00000264187.6	-	4	901	c.819C>T	c.(817-819)ggC>ggT	p.G273G	NID1_ENST00000366595.3_Silent_p.G273G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	273					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CAGGCACCACGCCATTGGTGG	0.557													59	152					0	0	0	0	A	236205526	G	A	236205526	2	1	311	1	0	0	0	0	0	0	0	1	10484	1074	38	1		1	NID1	1	236205526	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08	30994755	236205526	13045095	12	55470											
OR2M3	127062	broad.mit.edu	37	chr1	248367254	248367254	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctacagcctccgcaacaaGgaggtgaccagagcattcat	13	7	9	12	1	2	2	1	1	1	1	3	3	3	3	3	2	4	2	3	2	3	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:248367254G>A	ENST00000456743.1	+	1	923	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCCGCAACAAGGAGGTGACCA	0.458													30	83					0	0	0	0	A	248367254	G	A	248367254	2	1	311	1	0	0	0	0	0	0	0	1	11082	991	35	4		4	OR2M3	1	248367254	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08	12161728	248367254	883367	13	55471											
OR2T1	26696	broad.mit.edu	37	chr1	248569576	248569576	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcactgatggccaatggggTtatgatcttcctgatccaaa	10	11	10	10	1	1	3	0	3	1	0	3	3	3	3	3	3	0	2	3	3	3	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:248569576T>A	ENST00000366474.1	+	1	281	c.281T>A	c.(280-282)gTt>gAt	p.V94D		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCAATGGGGTTATGATCTTC	0.428													20	136					0	0	0	0	A	248569576	T	A	248569576	3	1	311	1	0	0	0	0	1	0	0	0	11087	1725	60	5	283	5	OR2T1	1	248569576	Missense_Mutation	SNP	T	TCGA-CV-7418-01A-11D-2078-08	202322	248569576	681045	14	55472											
HS1BP3	64342	broad.mit.edu	37	chr2	20818936	20818936	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagctgccactggtggcttGggcttaagctggggcttggg	4	12	17	8	0	0	0	0	0	0	0	0	0	0	0	1	6	3	5	1	6	2	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:20818936G>T	ENST00000304031.3	-	7	1015	c.990C>A	c.(988-990)ccC>ccA	p.P330P		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	330	Pro-rich.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTggcttgggcttaagct	0.602													37	67					1.90571e-15	2.29715e-15	1	0	T	20818936	G	T	20818936	2	4	311	1	0	0	0	0	0	0	0	1	7411	1335	47	4		4	HS1BP3	2	20818936	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08		20818936	222380437	15	55473											
EHBP1	23301	broad.mit.edu	37	chr2	63086416	63086417	+	Frame_Shift_Ins	INS	-	-	GACTCAGA																															taaatccatttggagatcctINSgactcagaaggtagcaagtt																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:63086416_63086417insGACTCAGA	ENST00000263991.5	+	9	1334_1335	c.852_853insGACTCAGA	c.(850-855)ccactcfs	p.L285fs	EHBP1_ENST00000405015.3_Frame_Shift_Ins_p.L250fs|EHBP1_ENST00000431489.1_Frame_Shift_Ins_p.L250fs|EHBP1_ENST00000354487.3_Frame_Shift_Ins_p.L250fs|EHBP1_ENST00000405289.1_Frame_Shift_Ins_p.L250fs	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	285						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTGGAGATCCTGACTCAGAAGG	0.361													11	54	---	---	---	---					GACTCAGA	63086417	-	GACTCAGA	63086416	7	5	311	1	0	1	1	0	0	0	0	0	5011	1567	55	0	882	0	EHBP1	2	63086416	Frame_Shift_Ins	INS	-	TCGA-CV-7418-01A-11D-2078-08	42267480	63086416	180112957	16	55474											
ZRANB3	84083	broad.mit.edu	37	chr2	135988170	135988170	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagactacattgccagccctCtacaggaaaggctggggtgg	10	7	14	10	0	1	1	0	0	1	1	1	3	1	2	2	5	4	1	2	5	3	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:135988170C>G	ENST00000401392.1	-	13	2079	c.1867G>C	c.(1867-1869)Gag>Cag	p.E623Q	ZRANB3_ENST00000264159.6_Missense_Mutation_p.E623Q|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.E623Q			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	623						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGCCAGCCCTCTACAGGAAAG	0.488													21	35					0	0	0	0	G	135988170	C	G	135988170	3	3	311	1	0	0	0	0	1	0	0	0	18317	922	32	2	1408	2	ZRANB3	2	135988170	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	72901754	135988170	107211203	17	55475											
THSD7B	80731	broad.mit.edu	37	chr2	137814502	137814502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttggtggtttgcaatgtCcaaatctgactgagtcaaga	10	14	10	7	0	3	3	1	2	2	1	4	3	4	3	1	2	1	2	1	2	3	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:137814502C>A	ENST00000409968.1	+	3	830	c.652C>A	c.(652-654)Cca>Aca	p.P218T	THSD7B_ENST00000413152.2_Missense_Mutation_p.P187T|THSD7B_ENST00000543459.1_Missense_Mutation_p.P77T|THSD7B_ENST00000272643.3_Missense_Mutation_p.P218T					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTTGCAATGTCCAAATCTGAC	0.478													58	136					1.22119e-34	1.53856e-34	1	0	A	137814502	C	A	137814502	3	1	311	1	0	0	0	0	1	0	0	0	15974	855	30	2	565	2	THSD7B	2	137814502	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	1826332	137814502	105384871	18	55476											
KIF5C	3800	broad.mit.edu	37	chr2	149847689	149847689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgagcgggagctggcaGcctgccagctgctcatctcc	6	6	13	16	2	2	0	1	0	1	0	3	2	2	1	4	2	7	4	4	2	0	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:149847689G>T	ENST00000435030.1	+	16	2250	c.1882G>T	c.(1882-1884)Gcc>Tcc	p.A628S	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.A533S|KIF5C_ENST00000397413.1_Missense_Mutation_p.A396S			O60282	KIF5C_HUMAN	kinesin family member 5C	628					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGCTGGCAGCCTGCCAGCT	0.587													6	16					3.59834e-05	3.93348e-05	1	0	T	149847689	G	T	149847689	3	4	311	1	0	0	0	0	1	0	0	0	8358	971	34	4	1866	4	KIF5C	2	149847689	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	12033187	149847689	93351684	19	55477											
KCNH7	90134	broad.mit.edu	37	chr2	163374317	163374317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcatggaccgaagatgctCtccgtatactacataagctt	12	12	7	10	2	2	1	1	0	1	1	3	3	2	2	2	1	4	3	2	1	6	6			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:163374317C>A	ENST00000332142.5	-	4	914	c.815G>T	c.(814-816)aGa>aTa	p.R272I	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R272I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	272					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CGAAGATGCTCTCCGTATACT	0.458													5	53					5.9392e-07	6.6891e-07	1	0	A	163374317	C	A	163374317	3	1	311	1	0	0	0	0	1	0	0	0	8090	913	32	2	2893	2	KCNH7	2	163374317	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	13526628	163374317	79825056	20	55478											
LRP2	4036	broad.mit.edu	37	chr2	169989168	169989168	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacttccataattcttattAtccacattttcagatacagt	12	16	4	9	0	2	1	1	0	1	1	4	2	4	2	2	1	1	0	2	1	4	8			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:169989168A>G	ENST00000263816.3	-	77	13929	c.13644T>C	c.(13642-13644)gaT>gaC	p.D4548D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4548					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATTCTTATTATCCACATTTT	0.383													25	52					0	0	0	0	G	169989168	A	G	169989168	2	3	311	1	0	0	0	0	0	0	0	1	9020	446	16	5		5	LRP2	2	169989168	Silent	SNP	A	TCGA-CV-7418-01A-11D-2078-08	6614851	169989168	73210205	21	55479											
TTN	7273	broad.mit.edu	37	chr2	179534354	179534354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggctttttcagaacaGcttcacgaactttttcttct	8	17	5	11	1	5	1	3	0	2	1	5	2	5	1	0	1	3	2	0	1	2	7			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:179534354G>A	ENST00000589042.1	-	158	35659	c.35435C>T	c.(35434-35436)gCt>gTt	p.A11812V	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9935	Glu-rich.|Pro-rich.						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)			TTTCAGAACAGCTTCACGAAC	0.333													51	96					0	0	0	0	A	179534354	G	A	179534354	3	1	311	1	0	0	0	0	1	0	0	0	16831	986	34	4		4	TTN	2	179534354	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	9545186	179534354	63665019	22	55480											
ZNF804A	91752	broad.mit.edu	37	chr2	185731223	185731223	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcacattaattcatatgAccatgctcacaagcaggtaa	16	10	5	10	0	3	1	3	1	0	0	3	1	3	1	1	1	2	3	1	1	5	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:185731223A>G	ENST00000302277.6	+	2	833	c.239A>G	c.(238-240)gAc>gGc	p.D80G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	80						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AATTCATATGACCATGCTCAC	0.358													15	74					0	0	0	0	G	185731223	A	G	185731223	3	3	311	1	0	0	0	0	1	0	0	0	18263	275	10	5	245	5	ZNF804A	2	185731223	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	6196869	185731223	57468150	23	55481											
SLC40A1	30061	broad.mit.edu	37	chr2	190428622	190428622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccaaaccacattttcgacGtagccaagtaaaagctacag	17	7	6	11	2	0	0	0	0	0	0	1	1	0	0	3	0	5	3	3	0	7	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:190428622G>A	ENST00000261024.2	-	7	1516	c.1090C>T	c.(1090-1092)Cgt>Tgt	p.R364C		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	364					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CATTTTCGACGTAGCCAAGTA	0.468													18	111					0	0	0	0	A	190428622	G	A	190428622	3	1	311	1	0	0	0	0	1	0	0	0	14716	1145	40	1	633	1	SLC40A1	2	190428622	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	4697399	190428622	52770751	24	55482											
ANKAR	150709	broad.mit.edu	37	chr2	190584297	190584297	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttgctcttgtcattacaGgcaccattcctgccttaatc	7	17	5	12	0	2	0	1	0	1	0	4	0	3	0	3	1	3	2	3	1	2	6			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:190584297G>A	ENST00000520309.1	+	11	2312		c.e11-1		ANKAR_ENST00000431575.2_Splice_Site|ANKAR_ENST00000313581.4_Splice_Site|ANKAR_ENST00000281412.6_Splice_Site|ANKAR_ENST00000438402.2_Splice_Site	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing							integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGTCATTACAGGCACCATTCC	0.313													4	117					0	0	0	0	A	190584297	G	A	190584297	5	1	311	1	0	0	0	0	0	0	1	0	623	1014	35	4	2262	4	ANKAR	2	190584297	Splice_Site	SNP	G	TCGA-CV-7418-01A-11D-2078-08	155675	190584297	52615076	25	55483											
CUL3	8452	broad.mit.edu	37	chr2	225368470	225368470	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataataacgttcaaatacatCtttttcttgcataaacctaa	16	15	2	8	1	3	0	1	0	2	0	3	0	3	0	1	0	4	2	1	0	7	9			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:225368470C>G	ENST00000264414.4	-	9	1614	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	CUL3_ENST00000409777.1_Missense_Mutation_p.D402H|CUL3_ENST00000344951.4_Missense_Mutation_p.D360H|CUL3_ENST00000409096.1_Missense_Mutation_p.D402H	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	426					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAAATACATCTTTTTCTTGC	0.294													7	4					0	0	0	0	G	225368470	C	G	225368470	3	3	311	1	0	0	0	0	1	0	0	0	4088	913	32	2	1062	2	CUL3	2	225368470	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	34784173	225368470	17830903	26	55484											
CYP8B1	1582	broad.mit.edu	37	chr3	42917176	42917176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccggaaagccatggcatGgccaagccagggcacggtac	10	5	13	13	2	0	0	0	0	0	0	1	1	1	1	4	5	3	3	4	5	3	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:42917176G>T	ENST00000316161.4	-	1	457	c.133C>A	c.(133-135)Cat>Aat	p.H45N	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.H45N|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	45					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)		GCCATGGCATGGCCAAGCCAG	0.577													28	25					7.26314e-15	8.70796e-15	1	0	T	42917176	G	T	42917176	3	4	311	1	0	0	0	0	1	0	0	0	4230	1348	47	4	1376	4	CYP8B1	3	42917176	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08		42917176	155105254	27	55485											
KIAA1143	57456	broad.mit.edu	37	chr3	44795015	44795015	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactggttttcgatatatgaTtcttccatcggctggagttg	7	16	11	7	2	1	1	0	1	1	0	4	4	2	2	1	3	0	3	1	3	2	7			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr3:44795015T>C	ENST00000296121.4	-	3	342	c.283A>G	c.(283-285)Atc>Gtc	p.I95V	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	95										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		CGATATATGATTCTTCCATCG	0.343													3	41					0	0	0	0	C	44795015	T	C	44795015	3	2	311	1	0	0	0	0	1	0	0	0	8260	1493	52	5	185	5	KIAA1143	3	44795015	Missense_Mutation	SNP	T	TCGA-CV-7418-01A-11D-2078-08	1877839	44795015	153227415	28	55486											
CELSR3	1951	broad.mit.edu	37	chr3	48694603	48694603	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgttgaagatgaagacGtcctcagcgggcgtagcgag	10	8	16	7	4	1	4	1	2	0	2	2	6	2	5	1	2	2	2	1	2	3	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:48694603G>A	ENST00000544264.1	-	2	4207	c.3927C>T	c.(3925-3927)gaC>gaT	p.D1309D	CELSR3_ENST00000164024.4_Silent_p.D1309D			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1309					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGATGAAGACGTCCTCAGCGG	0.657													9	14					0	0	0	0	A	48694603	G	A	48694603	2	1	311	1	0	0	0	0	0	0	0	1	3252	1136	40	1		1	CELSR3	3	48694603	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08	3899588	48694603	149327827	29	55487											
FILIP1L	11259	broad.mit.edu	37	chr3	99569270	99569270	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttttactgagtttttcaAcctctagtttaaagtcttta	9	21	4	7	0	4	1	1	1	3	0	4	1	4	1	1	0	2	2	1	0	6	10			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:99569270A>C	ENST00000331335.5	-	5	1720	c.1250T>G	c.(1249-1251)gTt>gGt	p.V417G	FILIP1L_ENST00000487087.1_5'UTR|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.V177G|FILIP1L_ENST00000471562.1_Missense_Mutation_p.V177G|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.V417G	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	417						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GAGTTTTTCAACCTCTAGTTT	0.368													45	46					0	0	0	0	C	99569270	A	C	99569270	3	2	311	1	0	0	0	0	1	0	0	0	5940	43	2	5	2186	5	FILIP1L	3	99569270	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	50874667	99569270	98453160	30	55488											
SNX4	8723	broad.mit.edu	37	chr3	125172710	125172710	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcatttatttgttcttcTagcacctttattctggcttc	5	21	4	11	0	4	0	1	0	3	0	5	0	4	0	2	1	1	3	2	1	3	11			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:125172710T>C	ENST00000251775.4	-	12	1158	c.1134A>G	c.(1132-1134)ctA>ctG	p.L378L	SNX4_ENST00000536067.1_Silent_p.L233L	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	378					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TTTGTTCTTCTAGCACCTTTA	0.393													20	46					0	0	0	0	C	125172710	T	C	125172710	2	2	311	1	0	0	0	0	0	0	0	1	14992	1509	53	5		5	SNX4	3	125172710	Silent	SNP	T	TCGA-CV-7418-01A-11D-2078-08	25603440	125172710	72849720	31	55489											
COL6A6	131873	broad.mit.edu	37	chr3	130283910	130283910	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatggaagtgaggagaactTtgactatcttaaaggattct	14	12	10	5	0	2	3	0	2	2	1	2	6	2	5	0	3	1	0	0	3	6	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:130283910T>C	ENST00000358511.6	+	3	765	c.734T>C	c.(733-735)tTt>tCt	p.F245S	COL6A6_ENST00000453409.2_Missense_Mutation_p.F245S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	245	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAGGAGAACTTTGACTATCTT	0.418													43	83					0	0	0	0	C	130283910	T	C	130283910	3	2	311	1	0	0	0	0	1	0	0	0	3733	1841	64	5	744	5	COL6A6	3	130283910	Missense_Mutation	SNP	T	TCGA-CV-7418-01A-11D-2078-08	5111200	130283910	67738520	32	55490											
IL20RB	53833	broad.mit.edu	37	chr3	136708366	136708366	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggacctggggccccagtttGagttccttgtggcctactgg	5	11	14	11	0	0	1	0	1	0	0	1	2	1	2	5	5	1	2	5	5	1	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:136708366G>C	ENST00000329582.4	+	4	739	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	IL20RB_ENST00000309741.5_Missense_Mutation_p.E117Q	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	164	Fibronectin type-III 2.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCCCCAGTTTGAGTTCCTTGT	0.567													12	39					0	0	0	0	C	136708366	G	C	136708366	3	2	311	1	0	0	0	0	1	0	0	0	7722	1291	45	2	504	2	IL20RB	3	136708366	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	6424456	136708366	61314064	33	55491											
COPB2	9276	broad.mit.edu	37	chr3	139092255	139092255	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggttcctcccgaccaagCtgaaagaaagaaaaatagct	16	6	9	10	1	0	3	0	1	0	2	2	4	2	3	3	1	2	4	3	1	6	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:139092255C>A	ENST00000333188.5	-	9	1076		c.e9-1		COPB2_ENST00000507777.1_Splice_Site	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)						COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CCCGACCAAGCTGAAAGAAAG	0.408													9	29					3.09899e-07	3.50799e-07	1	0	A	139092255	C	A	139092255	5	1	311	1	0	0	0	0	0	0	1	0	3759	811	28	4	1882	4	COPB2	3	139092255	Splice_Site	SNP	C	TCGA-CV-7418-01A-11D-2078-08	2383889	139092255	58930175	34	55492											
SLC33A1	9197	broad.mit.edu	37	chr3	155551699	155551699	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctggggacctgcagtgtaTttgctgataatcagaggcag	9	10	15	7	0	1	2	1	1	0	1	1	3	1	3	1	4	2	5	1	4	2	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:155551699T>C	ENST00000392845.2	-	3	1475	c.1095A>G	c.(1093-1095)aaA>aaG	p.K365K	SLC33A1_ENST00000359479.3_Silent_p.K365K	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	365					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGCAGTGTATTTGCTGATAA	0.388													16	38					0	0	0	0	C	155551699	T	C	155551699	2	2	311	1	0	0	0	0	0	0	0	1	14654	1490	52	5		5	SLC33A1	3	155551699	Silent	SNP	T	TCGA-CV-7418-01A-11D-2078-08	16459444	155551699	42470731	35	55493											
GOLIM4	27333	broad.mit.edu	37	chr3	167747722	167747722	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttcctggtgttcccgcaGctgctgggcctcctccacct	3	11	10	17	1	0	0	0	0	0	0	4	0	4	0	6	2	3	5	6	2	0	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:167747722G>C	ENST00000470487.1	-	10	1968	c.1279C>G	c.(1279-1281)Ctg>Gtg	p.L427V	GOLIM4_ENST00000309027.4_Missense_Mutation_p.L399V	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	427	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						tgttcccgcagctgctgGGCC	0.577													30	112					0	0	0	0	C	167747722	G	C	167747722	3	2	311	1	0	0	0	0	1	0	0	0	6614	962	34	4	839	4	GOLIM4	3	167747722	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	12196023	167747722	30274708	36	55494											
KLHL24	54800	broad.mit.edu	37	chr3	183369021	183369021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagcaagacggtaccacAtacttgggaatgaaatgatg	16	8	11	6	1	0	4	0	3	0	1	0	5	0	5	1	2	3	2	1	2	6	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:183369021A>G	ENST00000454652.1	+	4	1263	c.877A>G	c.(877-879)Ata>Gta	p.I293V	KLHL24_ENST00000476808.1_Missense_Mutation_p.I293V|KLHL24_ENST00000242810.6_Missense_Mutation_p.I293V			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	293						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ACGGTACCACATACTTGGGAA	0.388													13	48					0	0	0	0	G	183369021	A	G	183369021	3	3	311	1	0	0	0	0	1	0	0	0	8431	217	8	5	879	5	KLHL24	3	183369021	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	15621299	183369021	14653409	37	55495											
TBCK	93627	broad.mit.edu	37	chr4	107165855	107165855	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctctttctccaagtcacctCcagccaaacaccaaaggtaa	13	8	5	15	0	3	0	1	0	2	0	5	0	4	0	5	1	2	2	5	1	4	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr4:107165855C>G	ENST00000273980.4	-	12	1445	c.998G>C	c.(997-999)gGa>gCa	p.G333A	TBCK_ENST00000361687.4_Missense_Mutation_p.G270A|TBCK_ENST00000394708.2_Missense_Mutation_p.G333A|TBCK_ENST00000432496.2_Missense_Mutation_p.G333A|TBCK_ENST00000394706.3_Missense_Mutation_p.G294A			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	333						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CAAGTCACCTCCAGCCAAACA	0.363													18	12					0	0	0	0	G	107165855	C	G	107165855	3	3	311	1	0	0	0	0	1	0	0	0	15730	855	30	2	1747	2	TBCK	4	107165855	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08		107165855	83988421	38	55496											
GAB1	2549	broad.mit.edu	37	chr4	144361302	144361303	+	Frame_Shift_Ins	INS	-	-	T																															gaaaattacgtcccaatgaaINStcccaattcaccaccacgac																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr4:144361302_144361303insT	ENST00000262995.4	+	6	1779_1780	c.1352_1353insT	c.(1351-1353)accfs	p.T451fs	GAB1_ENST00000262994.4_Frame_Shift_Ins_p.T451fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.T348fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	451	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTCCCAATGAATCCCAATTCAC	0.351													35	31	---	---	---	---					T	144361303	-	T	144361302	7	5	311	1	0	1	1	0	0	0	0	0	6196	101	4	0	1374	0	GAB1	4	144361302	Frame_Shift_Ins	INS	-	TCGA-CV-7418-01A-11D-2078-08	37195447	144361302	46792974	39	55497											
PRSS48	345062	broad.mit.edu	37	chr4	152201007	152201007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggatgctgctgcagggCgctggccttggcaggtcagc	5	7	17	12	1	1	0	1	0	0	0	1	1	1	1	2	5	4	5	2	5	0	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr4:152201007C>T	ENST00000455694.2	+	2	114	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	38	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TGCTGCAGGGCGCTGGCCTTG	0.527													28	30					0	0	0	0	T	152201007	C	T	152201007	3	4	311	1	0	0	0	0	1	0	0	0	12709	768	27	1	118	1	PRSS48	4	152201007	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	7839705	152201007	38953269	40	55498											
FGA	2243	broad.mit.edu	37	chr4	155510666	155510666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccacaacccttgggccacGcacgcctcctccttcagcta	7	9	6	19	2	1	0	1	0	0	0	4	0	4	0	6	1	2	2	6	1	2	4	rs121909606		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr4:155510666G>A	ENST00000302053.3	-	2	181	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	FGA_ENST00000403106.3_Missense_Mutation_p.R35C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	35		Cleavage; by thrombin; to release fibrinopeptide A.	R -> C.|R -> H.		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R35C(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTGGGCCACGCACGCCTCCT	0.493													42	19					0	0	0	0	A	155510666	G	A	155510666	3	1	311	1	0	0	0	0	1	0	0	0	5875	1087	38	1	2561	1	FGA	4	155510666	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	3309659	155510666	35643610	41	55499											
KIAA0947	23379	broad.mit.edu	37	chr5	5461761	5461761	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccagatttcacatcattaAtaggttctcaggctgccttg	10	13	8	10	0	3	1	3	0	1	1	4	1	3	1	2	2	2	2	2	2	2	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:5461761A>G	ENST00000296564.7	+	13	2536	c.2314A>G	c.(2314-2316)Ata>Gta	p.I772V		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	772										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CACATCATTAATAGGTTCTCA	0.388													9	22					0	0	0	0	G	5461761	A	G	5461761	3	3	311	1	0	0	0	0	1	0	0	0	8253	101	4	5	2364	5	KIAA0947	5	5461761	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08		5461761	175453499	42	55500											
CDH18	1016	broad.mit.edu	37	chr5	19571938	19571938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctttttctcatagttcaGtggctgtggggaaaaaaaat	11	15	9	6	0	3	0	2	0	2	0	4	1	3	1	0	3	0	2	0	3	5	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:19571938G>T	ENST00000507958.1	-	10	1993	c.1003C>A	c.(1003-1005)Ctg>Atg	p.L335M	CDH18_ENST00000502796.1_Missense_Mutation_p.L335M|CDH18_ENST00000274170.4_Missense_Mutation_p.L335M|CDH18_ENST00000382275.1_Missense_Mutation_p.L335M|CDH18_ENST00000511273.1_Missense_Mutation_p.L335M|CDH18_ENST00000506372.1_Missense_Mutation_p.L335M			Q13634	CAD18_HUMAN	cadherin 18, type 2	335	Cadherin 3.				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)					TCATAGTTCAGTGGCTGTGGG	0.299													14	20					1.49906e-05	1.6549e-05	1	0	T	19571938	G	T	19571938	3	4	311	1	0	0	0	0	1	0	0	0	3132	1020	36	4	1393	4	CDH18	5	19571938	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	14110177	19571938	161343322	43	55501											
APC	324	broad.mit.edu	37	chr5	112173680	112173680	+	Frame_Shift_Del	DEL	G	G	-																															gacacaagcaaagtctctatGgtgattatgtttttgacacc																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:112173680delG	ENST00000457016.1	+	16	2769	c.2389delG	c.(2389-2391)gtfs	p.G797fs	APC_ENST00000257430.4_Frame_Shift_Del_p.G797fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Del_p.G797fs			P25054	APC_HUMAN	adenomatous polyposis coli	797	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGTCTCTATGGTGATTATGT	0.358		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			12	59	---	---	---	---					-	112173680	G	-	112173680	7	5	311	1	0	1	0	1	0	0	0	0	764	1348	47	0	2447	0	APC	5	112173680	Frame_Shift_Del	DEL	G	TCGA-CV-7418-01A-11D-2078-08	92601742	112173680	68741580	44	55502											
SLC27A6	28965	broad.mit.edu	37	chr5	128324299	128324299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttcttccaggtctacCaaaagcagctgtgattagtc	9	15	7	10	0	3	1	0	1	3	0	5	1	4	1	2	1	3	2	2	1	4	6			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:128324299C>T	ENST00000262462.4	+	3	1702	c.692C>T	c.(691-693)cCa>cTa	p.P231L	SLC27A6_ENST00000506176.1_Missense_Mutation_p.P231L|SLC27A6_ENST00000395266.1_Missense_Mutation_p.P231L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	231				P -> S (in Ref. 3; CAG33410).	long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CCAGGTCTACCAAAAGCAGCT	0.368													30	32					0	0	0	0	T	128324299	C	T	128324299	3	4	311	1	0	0	0	0	1	0	0	0	14618	594	21	4	702	4	SLC27A6	5	128324299	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	16150619	128324299	52590961	45	55503											
WNT8A	7478	broad.mit.edu	37	chr5	137426396	137426396	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgagagctgggaacagCgccgagggccactgggtgcc	8	4	17	12	2	0	1	0	1	0	1	0	4	0	2	3	3	5	2	3	3	1	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:137426396C>T	ENST00000506684.1	+	5	980	c.744C>T	c.(742-744)agC>agT	p.S248S	WNT8A_ENST00000398754.1_Silent_p.S230S			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	230					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGGGAACAGCGCCGAGGGCC	0.542													19	28					0	0	0	0	T	137426396	C	T	137426396	2	4	311	1	0	0	0	0	0	0	0	1	17492	767	27	1		1	WNT8A	5	137426396	Silent	SNP	C	TCGA-CV-7418-01A-11D-2078-08	9102097	137426396	43488864	46	55504											
PCDHA2	56146	broad.mit.edu	37	chr5	140175998	140175998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcagcgtgggatgcggaCgcgcaggagaacgcgctggt	7	6	19	9	6	1	1	1	0	0	1	1	4	1	3	0	4	3	2	0	4	1	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:140175998C>A	ENST00000526136.1	+	1	1449	c.1449C>A	c.(1447-1449)gaC>gaA	p.D483E	PCDHA2_ENST00000520672.2_Missense_Mutation_p.D483E|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D483E|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGATGCGGACGCGCAGGAGA	0.657													38	82					7.05121e-23	8.73567e-23	1	0	A	140175998	C	A	140175998	3	1	311	1	0	0	0	0	1	0	0	0	11595	535	19	3	1451	3	PCDHA2	5	140175998	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	2749602	140175998	40739262	47	55505											
PCDHA3	56145	broad.mit.edu	37	chr5	140182672	140182672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggctgtacacgggagaGatcagcacgacccgtgccct	8	6	15	12	3	1	1	1	0	0	1	1	4	1	2	2	3	3	3	2	3	1	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:140182672G>T	ENST00000522353.2	+	1	1890	c.1890G>T	c.(1888-1890)gaG>gaT	p.E630D	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.E630D|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGGAGAGATCAGCACGA	0.657													22	56					2.89027e-11	3.39226e-11	1	0	T	140182672	G	T	140182672	3	4	311	1	0	0	0	0	1	0	0	0	11596	933	33	2	1892	2	PCDHA3	5	140182672	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	6674	140182672	40732588	48	55506											
PCDHGB3	56102	broad.mit.edu	37	chr5	140750142	140750142	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggtttggcgtgggggatTtacctactaggaacctgcgg	6	11	17	7	2	0	0	0	0	0	0	0	2	0	2	2	7	4	1	2	7	4	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:140750142T>G	ENST00000576222.1	+	1	312	c.181T>G	c.(181-183)Tta>Gta	p.L61V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGGGATTTACCTACTAG	0.557													6	141					0	0	0	0	G	140750142	T	G	140750142	3	3	311	1	0	0	0	0	1	0	0	0	11635	1838	64	5	183	5	PCDHGB3	5	140750142	Missense_Mutation	SNP	T	TCGA-CV-7418-01A-11D-2078-08	567470	140750142	40165118	49	55507											
GLRA1	2741	broad.mit.edu	37	chr5	151202317	151202317	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgaggaaggccatggggaAgccaatgcgggatattttgt	12	9	15	5	1	0	1	0	1	0	0	0	4	0	4	2	5	2	0	2	5	5	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:151202317A>C	ENST00000274576.4	-	9	1559	c.1267T>G	c.(1267-1269)Ttc>Gtc	p.F423V	GLRA1_ENST00000545569.1_Missense_Mutation_p.F340V|GLRA1_ENST00000455880.2_Missense_Mutation_p.F431V	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	431					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCATGGGGAAGCCAATGCGG	0.507													26	42					0	0	0	0	C	151202317	A	C	151202317	3	2	311	1	0	0	0	0	1	0	0	0	6505	72	3	5	86	5	GLRA1	5	151202317	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	10452175	151202317	29712943	50	55508											
MICB	4277	broad.mit.edu	37	chr6	31473459	31473459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgtgcagtcagggtttCtcgctgagggacatctggat	7	12	14	8	1	4	1	1	1	3	0	5	4	4	3	0	3	1	3	0	3	0	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:31473459C>A	ENST00000252229.6	+	2	215	c.136C>A	c.(136-138)Ctc>Atc	p.L46I	MICB_ENST00000399150.3_Missense_Mutation_p.L46I|MICB_ENST00000538442.1_Missense_Mutation_p.L14I	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	46					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GTCAGGGTTTCTCGCTGAGGG	0.562													27	19					2.4375e-19	3.00311e-19	1	0	A	31473459	C	A	31473459	3	1	311	1	0	0	0	0	1	0	0	0	9644	913	32	2	142	2	MICB	6	31473459	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08		31473459	139641608	51	55509											
UBR2	23304	broad.mit.edu	37	chr6	42603184	42603184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccaattacacgtcaagtagGacaacatattgaaatggaac	17	9	7	8	1	1	1	1	1	0	0	2	3	2	3	1	2	3	1	1	2	8	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:42603184G>A	ENST00000372899.1	+	14	1832	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	UBR2_ENST00000372883.3_Missense_Mutation_p.G29E|UBR2_ENST00000372901.1_Missense_Mutation_p.G525E	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	525					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CGTCAAGTAGGACAACATATT	0.348													16	10					0	0	0	0	A	42603184	G	A	42603184	3	1	311	1	0	0	0	0	1	0	0	0	16998	1174	41	2	1774	2	UBR2	6	42603184	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	11129725	42603184	128511883	52	55510											
GPR115	221393	broad.mit.edu	37	chr6	47682615	47682615	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccagagaaaggctacatgaGacctgaggcctgttggctta	11	8	13	9	0	0	3	0	2	0	2	0	5	0	3	3	3	1	3	3	3	3	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:47682615G>C	ENST00000283303.2	+	6	1892	c.1634G>C	c.(1633-1635)aGa>aCa	p.R545T	GPR115_ENST00000371220.1_Missense_Mutation_p.R602T|GPR115_ENST00000327753.3_Missense_Mutation_p.R545T	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	545					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GGCTACATGAGACCTGAGGCC	0.483													40	166					0	0	0	0	C	47682615	G	C	47682615	3	2	311	1	0	0	0	0	1	0	0	0	6681	942	33	2	1652	2	GPR115	6	47682615	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	5079431	47682615	123432452	53	55511											
DST	667	broad.mit.edu	37	chr6	56716396	56716396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgataggacgcgttccCggaactctacagagaatgac	12	6	12	11	4	1	2	0	1	1	1	2	6	2	4	1	2	3	2	1	2	4	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:56716396C>A	ENST00000370754.5	-	4	423	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GACGCGTTCCCGGAACTCTAC	0.502											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	14					3.86212e-05	4.20123e-05	1	0	A	56716396	C	A	56716396	3	1	311	1	0	0	0	0	1	0	0	0	4819	667	23	3		3	DST	6	56716396	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	9033781	56716396	114398671	54	55512											
COL12A1	1303	broad.mit.edu	37	chr6	75851809	75851809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgtactgcagaaacgctGactgtgtacaaggtctgtga	11	11	11	8	1	2	3	1	2	1	1	2	3	2	3	0	1	4	4	0	1	4	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:75851809G>A	ENST00000322507.8	-	27	5205	c.4896C>T	c.(4894-4896)gtC>gtT	p.V1632V	COL12A1_ENST00000416123.2_Silent_p.V1632V|COL12A1_ENST00000483888.2_Silent_p.V1632V|COL12A1_ENST00000345356.6_Silent_p.V468V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1632	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGAAACGCTGACTGTGTACA	0.493													47	61					0	0	0	0	A	75851809	G	A	75851809	2	1	311	1	0	0	0	0	0	0	0	1	3699	1277	45	2		2	COL12A1	6	75851809	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08	19135413	75851809	95263258	55	55513											
LAMA4	3910	broad.mit.edu	37	chr6	112493962	112493962	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgacaggaaacagagtgcGggtctcattgtgcagccgct	10	7	14	10	3	1	1	1	0	1	1	2	4	1	2	1	2	4	2	1	2	1	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:112493962G>C	ENST00000230538.7	-	12	1799	c.1402C>G	c.(1402-1404)Cgc>Ggc	p.R468G	LAMA4_ENST00000522006.1_Missense_Mutation_p.R461G|LAMA4_ENST00000424408.2_Missense_Mutation_p.R461G|LAMA4_ENST00000389463.4_Missense_Mutation_p.R461G	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	468	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AACAGAGTGCGGGTCTCATTG	0.527													4	29					0	0	0	0	C	112493962	G	C	112493962	3	2	311	1	0	0	0	0	1	0	0	0	8661	1116	39	3	4181	3	LAMA4	6	112493962	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	36642153	112493962	58621105	56	55514											
GJA1	2697	broad.mit.edu	37	chr6	121768632	121768632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatcttcatcatcttcatGctggtggtgtccttggtgtc	5	16	9	11	0	5	0	3	0	2	0	7	0	6	0	2	3	1	1	2	3	0	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:121768632G>T	ENST00000282561.3	+	2	796	c.639G>T	c.(637-639)atG>atT	p.M213I		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	213					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCATCTTCATGCTGGTGGTGT	0.488													47	78					2.27781e-18	2.79094e-18	1	0	T	121768632	G	T	121768632	3	4	311	1	0	0	0	0	1	0	0	0	6451	1319	46	4	641	4	GJA1	6	121768632	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	9274670	121768632	49346435	57	55515											
ZMIZ2	83637	broad.mit.edu	37	chr7	44801094	44801094	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccttccctgtgcgcgaTggggtggtcctggagccctt	3	11	14	13	2	0	1	0	1	0	0	2	3	2	2	4	4	2	0	4	4	0	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:44801094T>C	ENST00000309315.4	+	10	1410	c.1287T>C	c.(1285-1287)gaT>gaC	p.D429D	ZMIZ2_ENST00000441627.1_Silent_p.D429D|ZMIZ2_ENST00000413916.1_Silent_p.D371D|ZMIZ2_ENST00000265346.7_Silent_p.D403D|ZMIZ2_ENST00000433667.1_Silent_p.D397D	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	429					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGTGCGCGATGGGGTGGTCC	0.612													5	80					0	0	0	0	C	44801094	T	C	44801094	2	2	311	1	0	0	0	0	0	0	0	1	17792	1461	51	5		5	ZMIZ2	7	44801094	Silent	SNP	T	TCGA-CV-7418-01A-11D-2078-08		44801094	114337569	58	55516											
ADCY1	107	broad.mit.edu	37	chr7	45697403	45697403	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtcctctgtggtgtccTgggcttgcgcaagtggcagt	4	11	16	10	1	1	0	0	0	1	0	3	0	3	0	2	4	1	3	2	4	1	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:45697403T>A	ENST00000297323.7	+	6	1248	c.1226T>A	c.(1225-1227)cTg>cAg	p.L409Q	ADCY1_ENST00000432715.1_Missense_Mutation_p.L184Q	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	409					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGTGGTGTCCTGGGCTTGCGC	0.602													10	18					0	0	0	0	A	45697403	T	A	45697403	3	1	311	1	0	0	0	0	1	0	0	0	292	1580	55	5	1248	5	ADCY1	7	45697403	Missense_Mutation	SNP	T	TCGA-CV-7418-01A-11D-2078-08	896309	45697403	113441260	59	55517											
ACN9	57001	broad.mit.edu	37	chr7	96747113	96747113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccgtgttctgcccccggaCctcaaatccctgggcgacca	7	7	9	18	3	2	0	1	0	1	0	3	2	3	1	6	2	1	1	6	2	1	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:96747113C>T	ENST00000432641.2	+	1	1212	c.78C>T	c.(76-78)gaC>gaT	p.D26D	ACN9_ENST00000360382.4_Silent_p.D26D	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN	ACN9 homolog (S. cerevisiae)	26					regulation of gluconeogenesis	mitochondrial intermembrane space				large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TGCCCCCGGACCTCAAATCCC	0.597													16	58					0	0	0	0	T	96747113	C	T	96747113	2	4	311	1	0	0	0	0	0	0	0	1	145	506	18	4		4	ACN9	7	96747113	Silent	SNP	C	TCGA-CV-7418-01A-11D-2078-08	51049710	96747113	62391550	60	55518											
ZNF394	84124	broad.mit.edu	37	chr7	99091989	99091989	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcactgttctgcaattcattAtttttagagtcttccccttc	7	18	5	11	0	3	1	1	0	2	1	5	1	4	1	2	0	1	3	2	0	3	8			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:99091989A>G	ENST00000337673.6	-	3	1052	c.849T>C	c.(847-849)aaT>aaC	p.N283N	ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	283					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCAATTCATTATTTTTAGAGT	0.458													9	103					0	0	0	0	G	99091989	A	G	99091989	2	3	311	1	0	0	0	0	0	0	0	1	17975	446	16	5		5	ZNF394	7	99091989	Silent	SNP	A	TCGA-CV-7418-01A-11D-2078-08	2344876	99091989	60046674	61	55519											
PRKAR2B	5577	broad.mit.edu	37	chr7	106781395	106781395	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaacttttatgtaattgAtaggtaagttttgcccaacc	12	15	7	7	0	0	2	0	2	0	0	0	2	0	2	2	1	3	3	2	1	6	8			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:106781395A>T	ENST00000265717.4	+	5	843	c.584A>T	c.(583-585)gAt>gTt	p.D195V	PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	195					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TATGTAATTGATAGGTAAGTT	0.348													15	28					0	0	0	0	T	106781395	A	T	106781395	3	4	311	1	0	0	0	0	1	0	0	0	12586	333	12	5	602	5	PRKAR2B	7	106781395	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	7689406	106781395	52357268	62	55520											
AHCYL2	23382	broad.mit.edu	37	chr7	129043233	129043233	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	attgcagatcttggatgatgGaggggatcttacccactgga	10	11	13	7	0	2	2	0	1	2	1	2	6	2	6	1	5	2	1	1	5	1	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:129043233G>C	ENST00000325006.3	+	7	986	c.932G>C	c.(931-933)gGa>gCa	p.G311A	AHCYL2_ENST00000446544.2_Missense_Mutation_p.G310A|AHCYL2_ENST00000474594.1_Missense_Mutation_p.G208A|AHCYL2_ENST00000446212.1_Missense_Mutation_p.G209A|AHCYL2_ENST00000531335.2_Missense_Mutation_p.G230A|AHCYL2_ENST00000490911.1_Missense_Mutation_p.G208A	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	311					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TTGGATGATGGAGGGGATCTT	0.403													30	54					0	0	0	0	C	129043233	G	C	129043233	3	2	311	1	0	0	0	0	1	0	0	0	411	1174	41	2	1080	2	AHCYL2	7	129043233	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	22261838	129043233	30095430	63	55521											
PARP12	64761	broad.mit.edu	37	chr7	139727186	139727186	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttctgatactcttccgaGgaagaactaagggtgatctt	11	12	9	9	1	3	3	0	2	3	1	4	5	4	4	2	2	2	0	2	2	4	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:139727186G>T	ENST00000263549.3	-	10	2391	c.1518C>A	c.(1516-1518)tcC>tcA	p.S506S		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	506	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ACTCTTCCGAGGAAGAACTAA	0.448													19	55					2.94398e-08	3.34953e-08	1	0	T	139727186	G	T	139727186	2	4	311	1	0	0	0	0	0	0	0	1	11528	987	35	4		4	PARP12	7	139727186	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08	10683953	139727186	19411477	64	55522											
ESCO2	157570	broad.mit.edu	37	chr8	27657230	27657230	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacgactggttgatacccTcaggtaagaaataaaatgga	17	8	10	6	1	1	3	1	1	0	2	1	5	1	4	1	3	1	2	1	3	6	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:27657230T>G	ENST00000305188.8	+	10	1908	c.1670T>G	c.(1669-1671)cTc>cGc	p.L557R	ESCO2_ENST00000397418.2_Missense_Mutation_p.L205R	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	557					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GTTGATACCCTCAGGTAAGAA	0.428									SC Phocomelia syndrome				26	53					0	0	0	0	G	27657230	T	G	27657230	3	3	311	1	0	0	0	0	1	0	0	0	5287	1551	54	5	1704	5	ESCO2	8	27657230	Missense_Mutation	SNP	T	TCGA-CV-7418-01A-11D-2078-08		27657230	118706792	65	55523											
ADAM32	203102	broad.mit.edu	37	chr8	39022614	39022614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatggtcagatgaaaataaGatttctacagttggtgaggc	13	13	11	4	0	2	4	1	2	1	2	2	4	2	4	0	3	1	1	0	3	5	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:39022614G>T	ENST00000379907.4	+	9	859	c.732G>T	c.(730-732)aaG>aaT	p.K244N	ADAM32_ENST00000519315.1_Missense_Mutation_p.K244N|ADAM32_ENST00000437682.2_Missense_Mutation_p.K251N	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	244	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATGAAAATAAGATTTCTACAG	0.303													22	32					7.87624e-14	9.39253e-14	1	0	T	39022614	G	T	39022614	3	4	311	1	0	0	0	0	1	0	0	0	249	933	33	2	766	2	ADAM32	8	39022614	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	11365384	39022614	107341408	66	55524											
ZMAT4	79698	broad.mit.edu	37	chr8	40554847	40554847	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgataatgggaatcggccAccaccgctgaagtgaatgac	12	8	11	10	2	0	4	0	4	0	0	1	5	0	5	3	2	0	1	3	2	4	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:40554847A>G	ENST00000297737.6	-	4	412	c.266T>C	c.(265-267)gTg>gCg	p.V89A	ZMAT4_ENST00000315769.7_Missense_Mutation_p.V89A	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	89						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			GGAATCGGCCACCACCGCTGA	0.502													23	62					0	0	0	0	G	40554847	A	G	40554847	3	3	311	1	0	0	0	0	1	0	0	0	17789	159	6	5	439	5	ZMAT4	8	40554847	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	1532233	40554847	105809175	67	55525											
SULF1	23213	broad.mit.edu	37	chr8	70517085	70517085	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcaagaatatccaacagtCaaatcacttgcccaaatatg	17	8	5	11	0	2	1	2	0	0	1	3	1	3	1	2	0	3	1	2	0	7	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:70517085C>G	ENST00000260128.4	+	13	2012	c.1295C>G	c.(1294-1296)tCa>tGa	p.S432*	SULF1_ENST00000458141.2_Nonsense_Mutation_p.S432*|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Nonsense_Mutation_p.S432*|SULF1_ENST00000419716.3_Nonsense_Mutation_p.S432*	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	432					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATCCAACAGTCAAATCACTTG	0.463													29	49					0	0	0	0	G	70517085	C	G	70517085	4	3	311	1	0	0	0	0	0	1	0	0	15460	838	29	2	1329	2	SULF1	8	70517085	Nonsense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	29962238	70517085	75846937	68	55526											
VPS13B	157680	broad.mit.edu	37	chr8	100880545	100880545	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggtatagttgatcagccGatgcagaacttccagaaaac	13	9	10	9	1	1	3	1	1	0	2	2	4	2	3	2	1	4	4	2	1	5	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:100880545G>A	ENST00000358544.2	+	59	11430	c.11319G>A	c.(11317-11319)ccG>ccA	p.P3773P	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.P3748P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3773					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGATCAGCCGATGCAGAACT	0.493													17	50					0	0	0	0	A	100880545	G	A	100880545	2	1	311	1	0	0	0	0	0	0	0	1	17286	1045	37	1		1	VPS13B	8	100880545	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08	30363460	100880545	45483477	69	55527											
DPYS	1807	broad.mit.edu	37	chr8	105459661	105459661	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtcaccatgtacagatctTtataggccataaacatcttg	12	13	6	10	0	3	1	1	0	2	1	3	1	3	1	2	1	2	1	2	1	5	6			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:105459661T>C	ENST00000351513.2	-	3	626	c.494A>G	c.(493-495)aAa>aGa	p.K165R		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	165					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTACAGATCTTTATAGGCCAT	0.413													22	70					0	0	0	0	C	105459661	T	C	105459661	3	2	311	1	0	0	0	0	1	0	0	0	4782	1841	64	5	1093	5	DPYS	8	105459661	Missense_Mutation	SNP	T	TCGA-CV-7418-01A-11D-2078-08	4579116	105459661	40904361	70	55528											
PKHD1L1	93035	broad.mit.edu	37	chr8	110487466	110487466	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggatcacataaccaacAtttcatatacatcgacattc	14	12	5	10	1	2	0	2	0	0	0	4	2	2	1	1	1	3	0	1	1	4	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:110487466A>G	ENST00000378402.5	+	51	8829	c.8725A>G	c.(8725-8727)Att>Gtt	p.I2909V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2909					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATAACCAACATTTCATATAC	0.338										HNSCC(38;0.096)			6	29					0	0	0	0	G	110487466	A	G	110487466	3	3	311	1	0	0	0	0	1	0	0	0	12044	217	8	5	8927	5	PKHD1L1	8	110487466	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	5027805	110487466	35876556	71	55529											
CSMD3	114788	broad.mit.edu	37	chr8	113585824	113585824	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactactaagtgtcagtccGcgcatagatgcaccagtaaa	13	9	9	10	2	1	1	1	0	0	1	2	1	2	1	2	0	3	4	2	0	6	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:113585824G>A	ENST00000297405.5	-	24	4192	c.3948C>T	c.(3946-3948)cgC>cgT	p.R1316R	CSMD3_ENST00000455883.2_Silent_p.R1212R|CSMD3_ENST00000352409.3_Silent_p.R1316R|CSMD3_ENST00000343508.3_Silent_p.R1276R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1316	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGTCAGTCCGCGCATAGATG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	88					0	0	0	0	A	113585824	G	A	113585824	2	1	311	1	0	0	0	0	0	0	0	1	3978	1074	38	1		1	CSMD3	8	113585824	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08	3098358	113585824	32778198	72	55530											
CSMD3	114788	broad.mit.edu	37	chr8	113988125	113988125	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgttcagcatgtcttggtCttctcctggtactttgtgta	4	19	9	9	0	5	0	1	0	4	0	6	0	5	0	1	2	2	4	1	2	2	6			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:113988125C>G	ENST00000297405.5	-	7	1527	c.1283G>C	c.(1282-1284)aGa>aCa	p.R428T	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.R428T|CSMD3_ENST00000343508.3_Missense_Mutation_p.R388T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	428						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGTCTTGGTCTTCTCCTGGT	0.453										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	92					0	0	0	0	G	113988125	C	G	113988125	3	3	311	1	0	0	0	0	1	0	0	0	3978	913	32	2	10100	2	CSMD3	8	113988125	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	402301	113988125	32375897	73	55531											
KIAA0196	9897	broad.mit.edu	37	chr8	126061386	126061386	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacgatggaatccatccatGgtcgctcccaactctttcag	10	10	8	13	2	2	0	1	0	1	0	6	3	5	1	3	2	2	1	3	2	3	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:126061386G>A	ENST00000318410.7	-	19	2590	c.2241C>T	c.(2239-2241)acC>acT	p.T747T	KIAA0196_ENST00000517845.1_Silent_p.T599T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	747					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATCCATCCATGGTCGCTCCCA	0.403													16	39					0	0	0	0	A	126061386	G	A	126061386	2	1	311	1	0	0	0	0	0	0	0	1	8212	1335	47	4		4	KIAA0196	8	126061386	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08	12073261	126061386	20302636	74	55532											
KCNQ3	3786	broad.mit.edu	37	chr8	133141630	133141630	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgtctcaccctcggcgAggtaccgcttctccctcatc	4	11	8	18	4	3	0	2	0	2	0	8	1	4	0	4	2	1	2	4	2	1	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:133141630A>T	ENST00000388996.4	-	15	2918	c.2498T>A	c.(2497-2499)cTc>cAc	p.L833H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.L713H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.L821H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	833					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACCCTCGGCGAGGTACCGCTT	0.597													8	34					0	0	0	0	T	133141630	A	T	133141630	3	4	311	1	0	0	0	0	1	0	0	0	8137	304	11	5	124	5	KCNQ3	8	133141630	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	7080244	133141630	13222392	75	55533											
CYC1	1537	broad.mit.edu	37	chr8	145151332	145151332	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaaccataccccaacagTgaggctgctcgagctgccaa	13	5	8	15	1	0	1	0	1	0	0	1	2	0	1	5	1	6	3	5	1	5	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:145151332T>C	ENST00000318911.4	+	4	619	c.546T>C	c.(544-546)agT>agC	p.S182S		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	182	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCCAACAGTGAGGCTGCTC	0.587											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	56					0	0	0	0	C	145151332	T	C	145151332	2	2	311	1	0	0	0	0	0	0	0	1	4167	1693	59	5		5	CYC1	8	145151332	Silent	SNP	T	TCGA-CV-7418-01A-11D-2078-08	12009702	145151332	1212690	76	55534											
PTPLAD2	401494	broad.mit.edu	37	chr9	21029378	21029378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattaagtaatagatgaaaaGatacgcattcttcctatacc	16	12	6	7	1	1	3	0	1	1	2	2	4	2	3	2	0	2	2	2	0	8	8			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr9:21029378G>A	ENST00000495827.1	-	2	103	c.58C>T	c.(58-60)Ctt>Ttt	p.L20F	PTPLAD2_ENST00000513293.2_Missense_Mutation_p.L20F	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	20					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TAGATGAAAAGATACGCATTC	0.328													23	73					0	0	0	0	A	21029378	G	A	21029378	3	1	311	1	0	0	0	0	1	0	0	0	12856	942	33	2	664	2	PTPLAD2	9	21029378	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08		21029378	120184053	77	55535											
PIP5K1B	8395	broad.mit.edu	37	chr9	71532554	71532554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagaaagaggaggagaccCcacaaaatgtgcctgatgct	16	5	12	8	0	0	4	0	1	0	3	0	7	0	5	3	2	2	1	3	2	4	0	rs146846422		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr9:71532554C>T	ENST00000265382.3	+	9	1167	c.862C>T	c.(862-864)Cca>Tca	p.P288S	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.P288S	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	288	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GGAGGAGACCCCACAAAATGT	0.473													163	56					0	0	0	0	T	71532554	C	T	71532554	3	4	311	1	0	0	0	0	1	0	0	0	12012	623	22	4	884	4	PIP5K1B	9	71532554	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	50503176	71532554	69680877	78	55536											
C5	727	broad.mit.edu	37	chr9	123797114	123797114	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatcttgaagtcaggaaaaGagataattccaatatgatca	18	10	8	5	0	3	3	2	2	1	1	4	6	4	4	1	1	0	0	1	1	7	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr9:123797114G>C	ENST00000223642.1	-	5	580	c.551C>G	c.(550-552)tCt>tGt	p.S184C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	184					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GTCAGGAAAAGAGATAATTCC	0.353													12	22					0	0	0	0	C	123797114	G	C	123797114	3	2	311	1	0	0	0	0	1	0	0	0	2301	942	33	2	4627	2	C5	9	123797114	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	52264560	123797114	17416317	79	55537											
CC2D2B	387707	broad.mit.edu	37	chr10	97779477	97779477	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtctggtttaatattcaaCaaaataatacaccaatggct	16	12	6	7	0	2	0	1	0	1	0	2	0	2	0	1	3	2	2	1	3	8	6			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:97779477C>G	ENST00000344386.3	+	8	840	c.676C>G	c.(676-678)Caa>Gaa	p.Q226E	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|CC2D2B_ENST00000410012.2_Missense_Mutation_p.Q226E|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000458228.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	226										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TAATATTCAACAAAATAATAC	0.333													34	126					0	0	0	0	G	97779477	C	G	97779477	3	3	311	1	0	0	0	0	1	0	0	0	2754	479	17	4	702	4	CC2D2B	10	97779477	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08		97779477	37755270	80	55538											
TM9SF3	56889	broad.mit.edu	37	chr10	98292908	98292908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattgtaccaacaagatttaGaggaagaataacaaaaaaac	22	8	6	5	0	0	3	0	0	0	3	0	4	0	4	1	1	4	1	1	1	11	6			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:98292908G>C	ENST00000371142.4	-	10	1441	c.1225C>G	c.(1225-1227)Cta>Gta	p.L409V		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	409						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ACAAGATTTAGAGGAAGAATA	0.363													17	31					0	0	0	0	C	98292908	G	C	98292908	3	2	311	1	0	0	0	0	1	0	0	0	16073	933	33	2	568	2	TM9SF3	10	98292908	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	513431	98292908	37241839	81	55539											
C10orf12	26148	broad.mit.edu	37	chr10	98744407	98744407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctaaagcagaagttcagaGtaaacgcaagagaacagaag	19	4	11	7	1	1	4	1	0	0	4	1	5	1	4	1	0	3	4	1	0	8	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:98744407G>A	ENST00000286067.2	+	1	3367	c.3260G>A	c.(3259-3261)aGt>aAt	p.S1087N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1087										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAGTTCAGAGTAAACGCAAG	0.488													20	24					0	0	0	0	A	98744407	G	A	98744407	3	1	311	1	0	0	0	0	1	0	0	0	1599	1029	36	4	3262	4	C10orf12	10	98744407	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	451499	98744407	36790340	82	55540											
PDCD11	22984	broad.mit.edu	37	chr10	105174033	105174033	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccttgtcctaggtctatTattgaagctcagtaccttag	8	16	7	10	0	3	1	1	1	2	0	5	1	4	1	3	1	2	2	3	1	6	7			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:105174033T>C	ENST00000369797.3	+	11	1411	c.1317T>C	c.(1315-1317)atT>atC	p.I439I		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	439					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTAGGTCTATTATTGAAGCTC	0.438													7	19					0	0	0	0	C	105174033	T	C	105174033	2	2	311	1	0	0	0	0	0	0	0	1	11688	1742	61	5		5	PDCD11	10	105174033	Silent	SNP	T	TCGA-CV-7418-01A-11D-2078-08	6429626	105174033	30360714	83	55541											
SORCS3	22986	broad.mit.edu	37	chr10	106982948	106982948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaacatcagtgcagtcGtgtggcccagtcaactgggg	9	8	14	10	1	3	0	3	0	0	0	4	0	3	0	1	4	3	1	1	4	2	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:106982948G>A	ENST00000369701.3	+	20	3036	c.2809G>A	c.(2809-2811)Gtg>Atg	p.V937M	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	937						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGTGCAGTCGTGTGGCCCAG	0.448													50	53					0	0	0	0	A	106982948	G	A	106982948	3	1	311	1	0	0	0	0	1	0	0	0	15020	1145	40	1	2887	1	SORCS3	10	106982948	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	1808915	106982948	28551799	84	55542											
KIAA1598	57698	broad.mit.edu	37	chr10	118713583	118713583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgacactgtactgagaCacaagtctcggcggcaccgt	9	9	10	13	3	2	2	0	2	2	1	3	3	2	2	1	2	1	2	1	2	2	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:118713583C>A	ENST00000355371.4	-	5	903	c.406G>T	c.(406-408)Gtc>Ttc	p.V136F	KIAA1598_ENST00000392903.2_Missense_Mutation_p.V136F|KIAA1598_ENST00000260777.10_Missense_Mutation_p.V136F|KIAA1598_ENST00000392901.4_Missense_Mutation_p.V76F|KIAA1598_ENST00000497044.1_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	136					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TGTACTGAGACACAAGTCTCG	0.418													19	26					6.44725e-10	7.52742e-10	1	0	A	118713583	C	A	118713583	3	1	311	1	0	0	0	0	1	0	0	0	8297	478	17	4	1541	4	KIAA1598	10	118713583	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	11730635	118713583	16821164	85	55543											
PDZD8	118987	broad.mit.edu	37	chr10	119044328	119044328	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcgtctatggcatccAcattttttgcttgcttttca	6	18	6	11	1	2	0	1	0	1	0	4	0	3	0	1	1	3	4	1	1	1	7			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:119044328A>G	ENST00000334464.5	-	5	2155	c.1916T>C	c.(1915-1917)gTg>gCg	p.V639A	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	639					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TATGGCATCCACATTTTTTGC	0.453													6	55					0	0	0	0	G	119044328	A	G	119044328	3	3	311	1	0	0	0	0	1	0	0	0	11776	159	6	5	1552	5	PDZD8	10	119044328	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	330745	119044328	16490419	86	55544											
CTBP2	1488	broad.mit.edu	37	chr10	126715243	126715244	+	Frame_Shift_Ins	INS	-	-	C																															accgcgcccggggcagcgggINScccccccggtcctgcctccg																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:126715243_126715244insC	ENST00000309035.6	-	1	1215_1216	c.1085_1086insG	c.(1084-1086)gccfs	p.A362fs	CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ggggcagcgggcccccccggTC	0.668													5	9	---	---	---	---					C	126715244	-	C	126715243	7	5	311	1	0	1	1	0	0	0	0	0	4030	1190	42	0	1907	0	CTBP2	10	126715243	Frame_Shift_Ins	INS	-	TCGA-CV-7418-01A-11D-2078-08	7670915	126715243	8819504	87	55545											
ODF3	113746	broad.mit.edu	37	chr11	197593	197593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacgcccaccaagctgcgtGcaccggcctacagcttccgt	8	6	9	18	4	0	0	0	0	0	0	1	0	1	0	5	1	5	3	5	1	2	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:197593G>A	ENST00000325113.4	+	3	459	c.142G>A	c.(142-144)Gca>Aca	p.A48T	BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Missense_Mutation_p.A48T|ODF3_ENST00000342593.5_Missense_Mutation_p.A48T	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	48					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAAGCTGCGTGCACCGGCCTA	0.637													20	23					0	0	0	0	A	197593	G	A	197593	3	1	311	1	0	0	0	0	1	0	0	0	10900	1319	46	4	148	4	ODF3	11	197593	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08		197593	134808923	88	55546											
MUC6	4588	broad.mit.edu	37	chr11	1016769	1016771	+	In_Frame_Del	DEL	GGT	GGT	-																															tcaccaaggaggtggagaaaGgtggaacgtgagtgggaagt																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:1016769_1016771delGGT	ENST00000421673.2	-	31	6080_6082	c.6030_6032delACC	c.(6028-6033)cct>cc	p.PP2010del		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2010	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.P2011S(1)		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)		GGTGGAGAAAGGTGGAACGTGAG	0.537													9	1388	---	---	---	---					-	1016771	GGT	-	1016769	7	5	311	1	0	1	0	1	0	0	0	0	10050	1000	35	0	1299	0	MUC6	11	1016769	In_Frame_Del	DEL	GGT	TCGA-CV-7418-01A-11D-2078-08	819176	1016769	133989747	89	55547											
TNNI2	7136	broad.mit.edu	37	chr11	1862048	1862048	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcccccacacccacccctaGgagctctgcaaacagctgca	10	4	7	20	1	1	0	0	0	1	0	1	1	1	1	5	1	5	4	5	1	2	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:1862048G>A	ENST00000381906.1	+	6	255		c.e6-1		TNNI2_ENST00000252898.7_Splice_Site|TNNI2_ENST00000381911.1_Splice_Site|TNNI2_ENST00000381905.3_Splice_Site	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)						muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACCCCTAGGAGCTCTGCA	0.637													7	10					0	0	0	0	A	1862048	G	A	1862048	5	1	311	1	0	0	0	0	0	0	1	0	16421	1014	35	4	219	4	TNNI2	11	1862048	Splice_Site	SNP	G	TCGA-CV-7418-01A-11D-2078-08	845279	1862048	133144468	90	55548											
KCNJ11	3767	broad.mit.edu	37	chr11	17409554	17409554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagcgggccctccgctggcGggcacggtacctgggcttgg	5	6	17	13	4	0	0	0	0	0	0	1	0	1	0	3	6	2	4	3	6	2	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:17409554G>A	ENST00000339994.4	-	1	652	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	KCNJ11_ENST00000528731.1_Intron	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	0						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CTCCGCTGGCGGGCACGGTAC	0.652													24	50					0	0	0	0	A	17409554	G	A	17409554	3	1	311	1	0	0	0	0	1	0	0	0	8098	1116	39	1	1091	1	KCNJ11	11	17409554	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	15547506	17409554	117596962	91	55549											
HRASLS2	54979	broad.mit.edu	37	chr11	63325937	63325937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcactggtcagcgaataaGgcaactcctgccccaccaac	11	7	8	15	1	2	0	2	0	0	0	3	1	3	0	4	2	4	1	4	2	4	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:63325937G>A	ENST00000255695.1	-	3	372	c.314C>T	c.(313-315)cCt>cTt	p.P105L		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	105					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						CAGCGAATAAGGCAACTCCTG	0.547													12	46					0	0	0	0	A	63325937	G	A	63325937	3	1	311	1	0	0	0	0	1	0	0	0	7400	1000	35	4	182	4	HRASLS2	11	63325937	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	45916383	63325937	71680579	92	55550											
SLC25A45	283130	broad.mit.edu	37	chr11	65144112	65144112	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacccaggaagcaatgccTgcaaagccccctgccaccag	11	3	9	18	0	0	0	0	0	0	0	0	1	0	1	7	1	5	2	7	1	3	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:65144112T>A	ENST00000417511.2	-	10	1641	c.507A>T	c.(505-507)gcA>gcT	p.A169A	SLC25A45_ENST00000534028.1_Silent_p.A187A|SLC25A45_ENST00000360662.3_Silent_p.A187A|SLC25A45_ENST00000526432.1_Silent_p.A149A|SLC25A45_ENST00000294187.6_Silent_p.A169A|SLC25A45_ENST00000527174.1_Silent_p.A211A|SLC25A45_ENST00000377152.2_Silent_p.A107A|SLC25A45_ENST00000398802.1_Silent_p.A211A	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	211					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						AAGCAATGCCTGCAAAGCCCC	0.612													30	19					0	0	0	0	A	65144112	T	A	65144112	2	1	311	1	0	0	0	0	0	0	0	1	14598	1567	55	5		5	SLC25A45	11	65144112	Silent	SNP	T	TCGA-CV-7418-01A-11D-2078-08	1818175	65144112	69862404	93	55551											
CD248	57124	broad.mit.edu	37	chr11	66083244	66083244	+	Missense_Mutation	SNP	C	C	T																															cgggtagggtatctgtggctCtctgtcctctgggaagctcg																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083244C>T	ENST00000311330.3	-	1	1271	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	419	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	ATCTGTGGCTCTCTGTCCTCT	0.657													32	107					0	0	0	0	T	66083244	C	T	66083244	3	4	311	1	0	0	0	0	1	0	0	0	3018	922	32	2	1022	2	CD248	11	66083244	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	939132	66083244	68923272	94	55552	448	2	1	84		14	12	841	N	C	1.263886e-33
CD248	57124	broad.mit.edu	37	chr11	66083246	66083246	+	Missense_Mutation	SNP	C	C	T																															ggtagggtatctgtggctctCtgtcctctgggaagctcggt																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083246C>T	ENST00000311330.3	-	1	1269	c.1253G>A	c.(1252-1254)aGa>aAa	p.R418K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	418	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CTGTGGCTCTCTGTCCTCTGG	0.652													32	107					0	0	0	0	T	66083246	C	T	66083246	3	4	311	1	0	0	0	0	1	0	0	0	3018	913	32	2	1024	2	CD248	11	66083246	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	2	66083246	68923270	95	55553	448	2	1	84		14	12	841	N	C	1.263886e-33
CD248	57124	broad.mit.edu	37	chr11	66083267	66083267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcctctgggaagctcggtCtataggccagggcaaagtca	9	9	13	10	1	3	0	1	0	2	0	5	1	4	1	2	4	1	2	2	4	4	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083267C>G	ENST00000311330.3	-	1	1248	c.1232G>C	c.(1231-1233)aGa>aCa	p.R411T	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	411	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GAAGCTCGGTCTATAGGCCAG	0.647													28	95					0	0	0	0	G	66083267	C	G	66083267	3	3	311	1	0	0	0	0	1	0	0	0	3018	913	32	2	1045	2	CD248	11	66083267	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	21	66083267	68923249	96	55554			1	84		14	12	841	N	C	1.263886e-33
CD248	57124	broad.mit.edu	37	chr11	66083379	66083379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcgtcttcatcttcctcatCctccccgtcatccagcaact	6	13	3	19	2	5	0	3	0	2	0	10	0	9	0	5	0	2	1	5	0	1	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083379C>T	ENST00000311330.3	-	1	1136	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	374						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TCTTCCTCATCCTCCCCGTCA	0.622													41	55					0	0	0	0	T	66083379	C	T	66083379	3	4	311	1	0	0	0	0	1	0	0	0	3018	855	30	2	1157	2	CD248	11	66083379	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	112	66083379	68923137	97	55555			1	84		14	12	841	N	C	1.263886e-33
CD248	57124	broad.mit.edu	37	chr11	66083463	66083463	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggctgcagctgatgccatCagcctccagctcatgtccct	7	9	10	15	0	2	1	2	1	0	0	4	1	4	1	4	1	5	4	4	1	0	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083463C>G	ENST00000311330.3	-	1	1052	c.1036G>C	c.(1036-1038)Gat>Cat	p.D346H	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	346	EGF-like; calcium-binding (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CTGATGCCATCAGCCTCCAGC	0.577													29	33					0	0	0	0	G	66083463	C	G	66083463	3	3	311	1	0	0	0	0	1	0	0	0	3018	826	29	2	1241	2	CD248	11	66083463	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	84	66083463	68923053	98	55556			1	84		14	12	841	N	C	1.263886e-33
CD248	57124	broad.mit.edu	37	chr11	66083527	66083527	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaacgtagttgacacacatCtgctggcacacaccggcaat	12	7	8	14	2	1	1	0	1	1	0	1	1	1	1	2	2	2	5	2	2	3	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083527C>T	ENST00000311330.3	-	1	988	c.972G>A	c.(970-972)caG>caA	p.Q324Q	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	324	EGF-like; calcium-binding (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGACACACATCTGCTGGCACA	0.602													17	31					0	0	0	0	T	66083527	C	T	66083527	2	4	311	1	0	0	0	0	0	0	0	1	3018	912	32	2		2	CD248	11	66083527	Silent	SNP	C	TCGA-CV-7418-01A-11D-2078-08	64	66083527	68922989	99	55557			1	84		14	12	841	N	C	1.263886e-33
CD248	57124	broad.mit.edu	37	chr11	66083548	66083548	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctggcacacaccggcaatCtggcactcatctgtgtccac	8	9	9	15	1	3	0	1	0	2	0	4	0	4	0	2	3	1	4	2	3	1	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083548C>G	ENST00000311330.3	-	1	967	c.951G>C	c.(949-951)caG>caC	p.Q317H	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	317	EGF-like; calcium-binding (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CACCGGCAATCTGGCACTCAT	0.597													13	29					0	0	0	0	G	66083548	C	G	66083548	3	3	311	1	0	0	0	0	1	0	0	0	3018	912	32	2	1326	2	CD248	11	66083548	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	21	66083548	68922968	100	55558			1	84		14	12	841	N	C	1.263886e-33
CD248	57124	broad.mit.edu	37	chr11	66083586	66083586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacacagcggtgcggatcatCctccgctggccggaaaccca	9	5	11	16	4	1	0	1	0	0	0	3	2	3	2	4	4	3	1	4	4	1	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083586C>A	ENST00000311330.3	-	1	929	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	305						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGCGGATCATCCTCCGCTGGC	0.617													12	25					1.05317e-09	1.22321e-09	1	0	A	66083586	C	A	66083586	3	1	311	1	0	0	0	0	1	0	0	0	3018	855	30	2	1364	2	CD248	11	66083586	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	38	66083586	68922930	101	55559			1	84		14	12	841	N	C	1.263886e-33
CD248	57124	broad.mit.edu	37	chr11	66083748	66083748	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggcaggacacgtgaccatCcacctcctccacacattcgt	9	7	8	17	3	0	1	0	1	0	0	4	2	3	2	5	2	0	1	5	2	0	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083748C>A	ENST00000311330.3	-	1	767	c.751G>T	c.(751-753)Gat>Tat	p.D251Y	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	251						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	ACGTGACCATCCACCTCCTCC	0.687													27	33					0.000184323	0.000195734	1	0	A	66083748	C	A	66083748	3	1	311	1	0	0	0	0	1	0	0	0	3018	855	30	2	1526	2	CD248	11	66083748	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	162	66083748	68922768	102	55560			1	84		14	12	841	N	C	1.263886e-33
CD248	57124	broad.mit.edu	37	chr11	66083845	66083845	+	Silent	SNP	C	C	T																															cgtgaccagcccacacctccCtcaggctgcttcacgcagag																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083845C>T	ENST00000311330.3	-	1	670	c.654G>A	c.(652-654)gaG>gaA	p.E218E	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	218	Sushi.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CCACACCTCCCTCAGGCTGCT	0.662													25	20					0	0	0	0	T	66083845	C	T	66083845	2	4	311	1	0	0	0	0	0	0	0	1	3018	680	24	4		4	CD248	11	66083845	Silent	SNP	C	TCGA-CV-7418-01A-11D-2078-08	97	66083845	68922671	103	55561	449	2	1	84		14	12	841	N	C	1.263886e-33
CD248	57124	broad.mit.edu	37	chr11	66083847	66083847	+	Missense_Mutation	SNP	C	C	T																															tgaccagcccacacctccctCaggctgcttcacgcagagca																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083847C>T	ENST00000311330.3	-	1	668	c.652G>A	c.(652-654)Gag>Aag	p.E218K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	218	Sushi.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	ACACCTCCCTCAGGCTGCTTC	0.667													24	20					0	0	0	0	T	66083847	C	T	66083847	3	4	311	1	0	0	0	0	1	0	0	0	3018	835	29	2	1625	2	CD248	11	66083847	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	2	66083847	68922669	104	55562	449	2	1	84		14	12	841	N	C	1.263886e-33
CD248	57124	broad.mit.edu	37	chr11	66083928	66083928	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagccgaagggcagccactCaaactctgtggagaccaggt	12	5	13	11	1	2	2	1	0	1	2	2	4	2	2	3	3	3	1	3	3	2	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083928C>G	ENST00000311330.3	-	1	587	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	191	Sushi.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGCAGCCACTCAAACTCTGTG	0.677													12	22					0	0	0	0	G	66083928	C	G	66083928	3	3	311	1	0	0	0	0	1	0	0	0	3018	835	29	2	1706	2	CD248	11	66083928	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	81	66083928	68922588	105	55563			1	84		14	12	841	N	C	1.263886e-33
CD248	57124	broad.mit.edu	37	chr11	66084045	66084045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaactggcacaggtagccgtCgacagccagcgtgcacgagc	11	4	13	13	4	0	0	0	0	0	0	1	2	0	0	2	2	6	3	2	2	2	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66084045C>T	ENST00000311330.3	-	1	470	c.454G>A	c.(454-456)Gac>Aac	p.D152N	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	152	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	AGGTAGCCGTCGACAGCCAGC	0.716													17	15					0	0	0	0	T	66084045	C	T	66084045	3	4	311	1	0	0	0	0	1	0	0	0	3018	884	31	1	1823	1	CD248	11	66084045	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	117	66084045	68922471	106	55564			1	84		14	12	841	N	C	1.263886e-33
CD248	57124	broad.mit.edu	37	chr11	66084084	66084084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctccagccagcggtgctCgccacttgcctccagggcca	5	6	11	19	2	0	0	0	0	0	0	3	0	2	0	7	2	4	1	7	2	0	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66084084C>T	ENST00000311330.3	-	1	431	c.415G>A	c.(415-417)Gag>Aag	p.E139K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	139	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CAGCGGTGCTCGCCACTTGCC	0.706													21	17					0	0	0	0	T	66084084	C	T	66084084	3	4	311	1	0	0	0	0	1	0	0	0	3018	893	31	1	1862	1	CD248	11	66084084	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	39	66084084	68922432	107	55565			1	84		14	12	841	N	C	1.263886e-33
TPCN2	219931	broad.mit.edu	37	chr11	68835058	68835058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctggtgctgctgaccacgGccaacaaccccgatggtgcg	7	7	12	15	3	0	1	0	1	0	0	1	2	1	1	5	3	5	2	5	3	2	0	rs142288453	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:68835058G>A	ENST00000294309.3	+	8	915	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	TPCN2_ENST00000542467.1_Missense_Mutation_p.A272T|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	272					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCTGACCACGGCCAACAACCC	0.637													12	366					0	0	0	0	A	68835058	G	A	68835058	3	1	311	1	0	0	0	0	1	0	0	0	16491	1203	42	4	844	4	TPCN2	11	68835058	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	2750974	68835058	66171458	108	55566											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249400	71249400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgttgctcctcaggctGtgggtcatcctgctgccagt	3	13	12	13	0	2	0	2	0	0	0	4	0	4	0	3	2	4	5	3	2	0	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:71249400G>T	ENST00000398534.3	+	1	330	c.299G>T	c.(298-300)tGt>tTt	p.C100F		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	100	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TCCTCAGGCTGTGGGTCATCC	0.612													72	504					3.79363e-24	4.72615e-24	1	0	T	71249400	G	T	71249400	3	4	311	1	0	0	0	0	1	0	0	0	8620	1377	48	4	301	4	KRTAP5-8	11	71249400	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	2414342	71249400	63757116	109	55567											
TMEM135	65084	broad.mit.edu	37	chr11	87016978	87016978	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgggttcaatttcagAtgcaaacatggaccaaggca	12	13	9	7	0	2	1	2	0	0	1	2	2	2	2	1	3	2	3	1	3	3	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:87016978A>G	ENST00000340353.7	+	8	835	c.632_splice	c.e8-1	p.I211_splice	TMEM135_ENST00000305494.5_Splice_Site_p.I233_splice|TMEM135_ENST00000532959.1_Splice_Site_p.I104_splice|TMEM135_ENST00000535167.1_Splice_Site_p.I94_splice	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	233						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCAATTTCAGATGCAAACATG	0.284													18	25					0	0	0	0	G	87016978	A	G	87016978	5	3	311	1	0	0	0	0	0	0	1	0	16145	347	12	5	733	5	TMEM135	11	87016978	Splice_Site	SNP	A	TCGA-CV-7418-01A-11D-2078-08	15767578	87016978	47989538	110	55568											
HSPA8	3312	broad.mit.edu	37	chr11	122930647	122930647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagctgtagacttgacCtcaaagattccatcctcaat	11	12	5	13	0	3	3	2	1	1	2	6	3	5	3	4	0	1	2	4	0	3	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:122930647C>T	ENST00000534624.1	-	5	930	c.654G>A	c.(652-654)gaG>gaA	p.E218E	HSPA8_ENST00000526110.1_Silent_p.E199E|HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000532636.1_Silent_p.E218E|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000227378.3_Silent_p.E218E|HSPA8_ENST00000453788.2_Silent_p.E218E	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	218	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TAGACTTGACCTCAAAGATTC	0.453													5	32					0	0	0	0	T	122930647	C	T	122930647	2	4	311	1	0	0	0	0	0	0	0	1	7468	680	24	4		4	HSPA8	11	122930647	Silent	SNP	C	TCGA-CV-7418-01A-11D-2078-08	35913669	122930647	12075869	111	55569											
PARP11	57097	broad.mit.edu	37	chr12	3921420	3921420	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgtctttggaaggaggtcGcatgtatttggagtctccgt	6	13	13	9	3	2	0	0	0	2	0	4	3	2	3	2	4	0	2	2	4	2	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:3921420G>A	ENST00000228820.4	-	8	1030	c.886C>T	c.(886-888)Cga>Tga	p.R296*	PARP11_ENST00000476985.1_Intron|PARP11_ENST00000447133.3_Nonsense_Mutation_p.R215*|PARP11_ENST00000397096.2_Intron|PARP11_ENST00000427057.2_Nonsense_Mutation_p.R215*	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	289	PARP catalytic.						NAD+ ADP-ribosyltransferase activity	p.R289*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GAAGGAGGTCGCATGTATTTG	0.413													39	82					0	0	0	0	A	3921420	G	A	3921420	4	1	311	1	0	0	0	0	0	1	0	0	11527	1095	38	1	134	1	PARP11	12	3921420	Nonsense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08		3921420	129930475	112	55570											
C12orf4	57102	broad.mit.edu	37	chr12	4627336	4627336	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgatgaagtttcacaccActtcgatgatttcttttatg	10	15	7	9	2	2	2	1	2	1	0	3	4	2	2	2	0	1	1	2	0	2	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:4627336A>T	ENST00000261250.3	-	8	1008	c.921T>A	c.(919-921)agT>agA	p.S307R	C12orf4_ENST00000545746.1_Missense_Mutation_p.S307R	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	307										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		GTTTCACACCACTTCGATGAT	0.413													55	67					0	0	0	0	T	4627336	A	T	4627336	3	4	311	1	0	0	0	0	1	0	0	0	1697	156	6	5	765	5	C12orf4	12	4627336	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	705916	4627336	129224559	113	55571											
COPZ1	22818	broad.mit.edu	37	chr12	54744278	54744278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgctgcagtcagccaaaGaacagatcaagtggtcactc	13	7	11	10	0	3	2	3	0	0	2	4	2	3	2	1	2	4	2	1	2	3	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:54744278G>A	ENST00000262061.2	+	9	542	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	COPZ1_ENST00000551779.1_3'UTR|COPZ1_ENST00000552218.1_Missense_Mutation_p.E190K|COPZ1_ENST00000549116.1_Missense_Mutation_p.E111K|COPZ1_ENST00000552362.1_Missense_Mutation_p.E152K|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000548753.1_Missense_Mutation_p.E81K|COPZ1_ENST00000455864.2_Missense_Mutation_p.E146K|COPZ1_ENST00000416254.2_Missense_Mutation_p.E118K|COPZ1_ENST00000549043.1_Missense_Mutation_p.E177K	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	169					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						GTCAGCCAAAGAACAGATCAA	0.493													10	148					0	0	0	0	A	54744278	G	A	54744278	3	1	311	1	0	0	0	0	1	0	0	0	3771	943	33	2	539	2	COPZ1	12	54744278	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	50116942	54744278	79107617	114	55572											
TMEM5	10329	broad.mit.edu	37	chr12	64202512	64202512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccaagatgccttgcttcaGagtgatctcacattgtgccc	9	12	8	12	0	2	3	2	1	1	2	3	3	2	3	3	0	4	1	3	0	2	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:64202512G>C	ENST00000537373.1	+	6	1140	c.192G>C	c.(190-192)caG>caC	p.Q64H	TMEM5_ENST00000261234.6_Missense_Mutation_p.Q324H	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	324						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CCTTGCTTCAGAGTGATCTCA	0.428													27	60					0	0	0	0	C	64202512	G	C	64202512	3	2	311	1	0	0	0	0	1	0	0	0	16268	933	33	2	994	2	TMEM5	12	64202512	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	9458234	64202512	69649383	115	55573											
ZFC3H1	196441	broad.mit.edu	37	chr12	72057278	72057278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctccgaCtccgtatctggctgttatta	4	15	10	12	2	1	0	0	0	1	0	3	1	3	0	2	1	5	8	2	1	3	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:72057278C>T	ENST00000378743.3	-	1	471	c.113G>A	c.(112-114)aGt>aAt	p.S38N	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S38N|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S38N|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	38	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCTGCTCCGACTCCGTATCTG	0.657											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	106					0	0	0	0	T	72057278	C	T	72057278	3	4	311	1	0	0	0	0	1	0	0	0	17728	565	20	4	5996	4	ZFC3H1	12	72057278	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	7854766	72057278	61794617	116	55574											
LHX5	64211	broad.mit.edu	37	chr12	113906037	113906037	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttgagcgtctccagctgCttggccttgatggtggtgcg	3	12	15	11	2	1	2	0	2	1	0	2	2	1	2	3	3	4	2	3	3	0	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:113906037C>T	ENST00000261731.3	-	3	1143	c.570G>A	c.(568-570)aaG>aaA	p.K190K		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	190						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						TCTCCAGCTGCTTGGCCTTGA	0.672													15	24					0	0	0	0	T	113906037	C	T	113906037	2	4	311	1	0	0	0	0	0	0	0	1	8828	796	28	4		4	LHX5	12	113906037	Silent	SNP	C	TCGA-CV-7418-01A-11D-2078-08	41848759	113906037	19945858	117	55575											
FBXO21	23014	broad.mit.edu	37	chr12	117615346	117615346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaagatacgactcatagtCatctggctgctgaagaaagg	13	10	10	8	1	4	3	3	1	1	2	4	4	4	3	0	2	2	2	0	2	5	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:117615346C>T	ENST00000427718.2	-	4	645	c.571G>A	c.(571-573)Gac>Aac	p.D191N	FBXO21_ENST00000330622.5_Missense_Mutation_p.D191N|FBXO21_ENST00000549689.1_5'UTR	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	191					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GACTCATAGTCATCTGGCTGC	0.378													47	50					0	0	0	0	T	117615346	C	T	117615346	3	4	311	1	0	0	0	0	1	0	0	0	5778	826	29	2	1351	2	FBXO21	12	117615346	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	3709309	117615346	16236549	118	55576											
KSR2	283455	broad.mit.edu	37	chr12	117968797	117968797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggcgcccgggtcggcGtctccggcaccggcaccaca	4	4	15	18	6	1	0	0	0	1	0	3	0	1	0	5	6	0	2	5	6	0	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:117968797G>A	ENST00000425217.1	-	12	1718	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	KSR2_ENST00000302438.5_Missense_Mutation_p.T281M|KSR2_ENST00000339824.5_Missense_Mutation_p.T584M|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	584					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGGGTCGGCGTCTCCGGCAC	0.562													51	94					0	0	0	0	A	117968797	G	A	117968797	3	1	311	1	0	0	0	0	1	0	0	0	8635	1145	40	1	1137	1	KSR2	12	117968797	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	353451	117968797	15883098	119	55577											
CIT	11113	broad.mit.edu	37	chr12	120128169	120128169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgtgcttggctctcgcggGtggctggggccttcgggcgg	0	10	21	10	4	1	0	0	0	1	0	3	0	1	0	1	8	1	3	1	8	0	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:120128169G>T	ENST00000392521.2	-	47	6028	c.5973C>A	c.(5971-5973)caC>caA	p.H1991Q	CIT_ENST00000261833.7_Missense_Mutation_p.H1949Q|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1949					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTCTCGCGGGTGGCTGGGGC	0.716													6	15					0.0215528	0.0222512	1	0	T	120128169	G	T	120128169	3	4	311	1	0	0	0	0	1	0	0	0	3468	1252	44	4	244	4	CIT	12	120128169	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	2159372	120128169	13723726	120	55578											
HSPH1	10808	broad.mit.edu	37	chr13	31711647	31711647	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttacaacgggttcacaTgtgttgttcaattcctaaag	10	15	9	7	1	2	0	2	0	0	0	3	0	3	0	1	1	2	4	1	1	5	6			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr13:31711647T>C	ENST00000320027.5	-	18	2729	c.2385A>G	c.(2383-2385)acA>acG	p.T795T	HSPH1_ENST00000429785.2_Silent_p.T614T|HSPH1_ENST00000380405.4_Silent_p.T751T|HSPH1_ENST00000445273.2_Silent_p.T797T|HSPH1_ENST00000380406.5_Silent_p.T754T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	795					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGGGTTCACATGTGTTGTTCA	0.358													23	22					0	0	0	0	C	31711647	T	C	31711647	2	2	311	1	0	0	0	0	0	0	0	1	7484	1451	51	5		5	HSPH1	13	31711647	Silent	SNP	T	TCGA-CV-7418-01A-11D-2078-08		31711647	83458231	121	55579											
MLNR	2862	broad.mit.edu	37	chr13	49796405	49796405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgcaaggaagtccaggccGagaggcttccacagaagcag	12	4	13	12	2	0	2	0	0	0	2	3	4	2	3	3	3	1	3	3	3	3	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr13:49796405G>A	ENST00000218721.1	+	2	1131	c.1131G>A	c.(1129-1131)ccG>ccA	p.P377P	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	377					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AGTCCAGGCCGAGAGGCTTCC	0.552													29	15					0	0	0	0	A	49796405	G	A	49796405	2	1	311	1	0	0	0	0	0	0	0	1	9701	1045	37	1		1	MLNR	13	49796405	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08	18084758	49796405	65373473	122	55580											
TEP1	7011	broad.mit.edu	37	chr14	20837659	20837659	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgccacatgttacctgtGgtccattctccttctgggct	4	16	8	13	0	3	0	0	0	3	0	5	0	4	0	4	2	2	2	4	2	1	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:20837659G>A	ENST00000262715.5	-	53	7540	c.7500C>T	c.(7498-7500)acC>acT	p.T2500T	TEP1_ENST00000556935.1_Silent_p.T2392T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2500					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGTTACCTGTGGTCCATTCTC	0.488													5	73					0	0	0	0	A	20837659	G	A	20837659	2	1	311	1	0	0	0	0	0	0	0	1	15853	1335	47	4		4	TEP1	14	20837659	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08		20837659	86511881	123	55581											
PSMB5	5693	broad.mit.edu	37	chr14	23502633	23502633	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatggacagccccatgcctTtgtactgatacaccatgttg	9	11	8	13	0	0	1	0	1	0	0	0	2	0	2	5	1	4	2	5	1	2	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:23502633T>C	ENST00000361611.6	-	2	712	c.449A>G	c.(448-450)aAa>aGa	p.K150R	PSMB5_ENST00000493471.2_Missense_Mutation_p.K150R|PSMB5_ENST00000460922.2_Intron|PSMB5_ENST00000425762.2_Missense_Mutation_p.K47R	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	150					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	CCCCATGCCTTTGTACTGATA	0.517													33	69					0	0	0	0	C	23502633	T	C	23502633	3	2	311	1	0	0	0	0	1	0	0	0	12759	1841	64	5	439	5	PSMB5	14	23502633	Missense_Mutation	SNP	T	TCGA-CV-7418-01A-11D-2078-08	2664974	23502633	83846907	124	55582											
ACIN1	22985	broad.mit.edu	37	chr14	23535181	23535181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggctggacttacagacaaCggagatcttcctcttgaatg	10	10	12	9	1	2	3	0	1	2	2	3	5	3	4	1	4	2	1	1	4	3	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:23535181C>T	ENST00000262710.1	-	10	2803	c.2476G>A	c.(2476-2478)Gtt>Att	p.V826I	ACIN1_ENST00000357481.2_Missense_Mutation_p.V68I|ACIN1_ENST00000338631.6_Missense_Mutation_p.V99I|ACIN1_ENST00000555053.1_Missense_Mutation_p.V826I|ACIN1_ENST00000457657.1_Missense_Mutation_p.V786I|ACIN1_ENST00000397341.3_Missense_Mutation_p.V68I|ACIN1_ENST00000605057.1_Missense_Mutation_p.V768I|ACIN1_ENST00000557515.1_Missense_Mutation_p.V68I	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	826					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTACAGACAACGGAGATCTTC	0.433													15	39					0	0	0	0	T	23535181	C	T	23535181	3	4	311	1	0	0	0	0	1	0	0	0	142	536	19	1	1589	1	ACIN1	14	23535181	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	32548	23535181	83814359	125	55583											
HECTD1	25831	broad.mit.edu	37	chr14	31626071	31626071	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggttttgattcctcttcaTtctcatcatcagaggaagga	9	15	8	9	0	5	2	4	1	2	1	7	4	6	4	1	3	0	1	1	3	1	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:31626071T>G	ENST00000399332.1	-	12	2395	c.1907A>C	c.(1906-1908)aAt>aCt	p.N636T	HECTD1_ENST00000553700.1_Missense_Mutation_p.N636T	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	636					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTCCTCTTCATTCTCATCATC	0.343													25	36					0	0	0	0	G	31626071	T	G	31626071	3	3	311	1	0	0	0	0	1	0	0	0	7089	1493	52	5	6053	5	HECTD1	14	31626071	Missense_Mutation	SNP	T	TCGA-CV-7418-01A-11D-2078-08	8090890	31626071	75723469	126	55584											
SLC35F4	341880	broad.mit.edu	37	chr14	58036671	58036671	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcttccccaaagttggCacttccaagaaacattttaa	13	11	6	11	0	0	1	0	0	0	1	2	1	2	1	3	1	3	4	3	1	4	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:58036671C>A	ENST00000556826.1	-	6	1197	c.961G>T	c.(961-963)Gcc>Tcc	p.A321S	SLC35F4_ENST00000339762.6_Missense_Mutation_p.A357S|SLC35F4_ENST00000554729.1_Missense_Mutation_p.A198S	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAAAGTTGGCACTTCCAAGA	0.428													9	12					0.00829132	0.00859983	1	0	A	58036671	C	A	58036671	3	1	311	1	0	0	0	0	1	0	0	0	14679	710	25	4	508	4	SLC35F4	14	58036671	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	26410600	58036671	49312869	127	55585											
SIX4	51804	broad.mit.edu	37	chr14	61180764	61180764	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcctttccaagccttcCtgtttcacagatcctatagt	8	14	6	13	0	1	1	1	0	0	1	5	1	5	1	5	1	1	2	5	1	3	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:61180764C>T	ENST00000216513.4	-	3	1766	c.1707G>A	c.(1705-1707)caG>caA	p.Q569Q		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	569						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CCAAGCCTTCCTGTTTCACAG	0.468													13	19					0	0	0	0	T	61180764	C	T	61180764	2	4	311	1	0	0	0	0	0	0	0	1	14437	680	24	4		4	SIX4	14	61180764	Silent	SNP	C	TCGA-CV-7418-01A-11D-2078-08	3144093	61180764	46168776	128	55586											
EXD2	55218	broad.mit.edu	37	chr14	69704290	69704290	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccggctgggcttgttccAggaagaacgtgattccacat	8	12	11	10	2	0	2	0	1	0	1	3	3	3	3	3	3	1	3	3	3	2	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:69704290A>G	ENST00000409014.1	+	10	1574		c.e10-1		EXD2_ENST00000312994.5_Splice_Site|EXD2_ENST00000492815.1_Splice_Site|EXD2_ENST00000449989.1_Splice_Site|EXD2_ENST00000409949.1_Splice_Site|EXD2_ENST00000409675.1_Splice_Site|EXD2_ENST00000409242.1_Splice_Site|EXD2_ENST00000409018.3_Splice_Site	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGCTTGTTCCAGGAAGAACGT	0.552													14	23					0	0	0	0	G	69704290	A	G	69704290	5	3	311	1	0	0	0	0	0	0	1	0	5335	202	7	5	938	5	EXD2	14	69704290	Splice_Site	SNP	A	TCGA-CV-7418-01A-11D-2078-08	8523526	69704290	37645250	129	55587											
SNW1	22938	broad.mit.edu	37	chr14	78184661	78184661	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaaaaaactatgaactacTttgctttcaccagtgtaaac	16	11	6	8	0	1	2	1	1	0	1	1	3	1	2	1	0	5	2	1	0	8	5	rs17825620	by1000genomes	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:78184661T>G	ENST00000555761.1	-	13	1489	c.1461A>C	c.(1459-1461)aaA>aaC	p.K487N	SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000261531.7_Intron|SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron			Q13573	SNW1_HUMAN	SNW domain containing 1	0					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TATGAACTACTTTGCTTTCAC	0.438													4	107					0	0	0	0	G	78184661	T	G	78184661	3	3	311	1	0	0	0	0	1	0	0	0	14967	1624	56	5		5	SNW1	14	78184661	Missense_Mutation	SNP	T	TCGA-CV-7418-01A-11D-2078-08	8480371	78184661	29164879	130	55588											
SEL1L	6400	broad.mit.edu	37	chr14	81965994	81965994	+	Missense_Mutation	SNP	G	G	T																															accaagtccagaggcatacaGaaagccaagagcctgaaata																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:81965994G>T	ENST00000336735.4	-	7	906	c.790C>A	c.(790-792)Ctg>Atg	p.L264M	SEL1L_ENST00000555824.1_Missense_Mutation_p.L264M	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	264	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GAGGCATACAGAAAGCCAAGA	0.338													8	34					1.76689e-08	2.04154e-08	1	0	T	81965994	G	T	81965994	3	4	311	1	0	0	0	0	1	0	0	0	14097	933	33	2	1654	2	SEL1L	14	81965994	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	3781333	81965994	25383546	131	55589	450	2									
SEL1L	6400	broad.mit.edu	37	chr14	81965995	81965995	+	Missense_Mutation	SNP	A	A	T																															ccaagtccagaggcatacagAaagccaagagcctgaaatag																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:81965995A>T	ENST00000336735.4	-	7	905	c.789T>A	c.(787-789)ttT>ttA	p.F263L	SEL1L_ENST00000555824.1_Missense_Mutation_p.F263L	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	263	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AGGCATACAGAAAGCCAAGAG	0.338													8	34					0	0	0	0	T	81965995	A	T	81965995	3	4	311	1	0	0	0	0	1	0	0	0	14097	243	9	5	1655	5	SEL1L	14	81965995	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	1	81965995	25383545	132	55590	450	2									
HERC2	8924	broad.mit.edu	37	chr15	28389228	28389228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatggtggcatttacctaggGcactcagctgtgcacaagct	10	10	11	10	0	1	0	1	0	0	0	1	0	1	0	1	3	4	5	1	3	4	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:28389228G>A	ENST00000261609.7	-	73	11402	c.11294C>T	c.(11293-11295)gCc>gTc	p.A3765V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3765					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTTACCTAGGGCACTCAGCTG	0.507													30	64					0	0	0	0	A	28389228	G	A	28389228	3	1	311	1	0	0	0	0	1	0	0	0	7108	1203	42	4	3294	4	HERC2	15	28389228	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08		28389228	74142164	133	55591											
TTBK2	146057	broad.mit.edu	37	chr15	43102902	43102902	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtttcaacatgagcctGtggtcatatctctccttaat	10	15	7	9	0	3	2	2	1	1	1	5	2	4	2	2	1	2	1	2	1	3	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr15:43102902G>A	ENST00000267890.6	-	9	840	c.732C>T	c.(730-732)caC>caT	p.H244H	TTBK2_ENST00000567274.1_Silent_p.H209H|TTBK2_ENST00000567840.1_Silent_p.H244H	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	244	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		ACATGAGCCTGTGGTCATATC	0.413													31	52					0	0	0	0	A	43102902	G	A	43102902	2	1	311	1	0	0	0	0	0	0	0	1	16773	1368	48	4		4	TTBK2	15	43102902	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08	14713674	43102902	59428490	134	55592											
TGM7	116179	broad.mit.edu	37	chr15	43579612	43579612	+	Frame_Shift_Del	DEL	C	C	-																															cccctttggagtagtcctcgCcccagttcccctgcagcacg																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:43579612delC	ENST00000452443.2	-	6	735	c.731delG	c.(730-732)gcfs	p.G244fs		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	244					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GTAGTCCTCGCCCCAGTTCCC	0.607													17	34	---	---	---	---					-	43579612	C	-	43579612	7	5	311	1	0	1	0	1	0	0	0	0	15929	739	26	0	1433	0	TGM7	15	43579612	Frame_Shift_Del	DEL	C	TCGA-CV-7418-01A-11D-2078-08	476710	43579612	58951780	135	55593											
SLC30A4	7782	broad.mit.edu	37	chr15	45814465	45814465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccgcctcatccgagaagtCaaaggcgctggtgtcattta	9	9	10	13	3	3	1	3	0	0	1	4	2	4	1	4	2	0	1	4	2	3	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:45814465C>G	ENST00000261867.4	-	2	402	c.88G>C	c.(88-90)Gac>Cac	p.D30H	HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	30	Asp-rich (acidic).			D -> E (in Ref. 1; AAB82561).	regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TCCGAGAAGTCAAAGGCGCTG	0.572													23	33					0	0	0	0	G	45814465	C	G	45814465	3	3	311	1	0	0	0	0	1	0	0	0	14645	826	29	2	1229	2	SLC30A4	15	45814465	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	2234853	45814465	56716927	136	55594											
ADPGK	83440	broad.mit.edu	37	chr15	73044806	73044806	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggaaggatattccctctCtgtgccattctactactggc	8	13	9	11	0	2	0	0	0	2	0	4	2	3	2	2	3	3	0	2	3	4	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:73044806C>G	ENST00000311669.8	-	7	1460	c.1367G>C	c.(1366-1368)aGa>aCa	p.R456T	ADPGK_ENST00000456471.2_Missense_Mutation_p.R182T	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	457	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						TATTCCCTCTCTGTGCCATTC	0.493													41	116					0	0	0	0	G	73044806	C	G	73044806	3	3	311	1	0	0	0	0	1	0	0	0	330	913	32	2	127	2	ADPGK	15	73044806	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	27230341	73044806	29486586	137	55595											
SNX33	257364	broad.mit.edu	37	chr15	75942185	75942185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaattcaagggcatcaaaAgctacatctcctacaagctc	15	8	5	13	0	3	0	2	0	1	0	5	0	3	0	2	1	4	3	2	1	7	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:75942185A>G	ENST00000308527.5	+	1	1939	c.742A>G	c.(742-744)Agc>Ggc	p.S248G		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	248	PX.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GGGCATCAAAAGCTACATCTC	0.547													12	212					0	0	0	0	G	75942185	A	G	75942185	3	3	311	1	0	0	0	0	1	0	0	0	14991	72	3	5	744	5	SNX33	15	75942185	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	2897379	75942185	26589207	138	55596											
CHRNB4	1143	broad.mit.edu	37	chr15	78923490	78923490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgttcacaccctcgtagCgggagctgttccaggtcagg	7	9	14	11	2	2	0	2	0	0	0	4	2	3	2	2	4	2	4	2	4	1	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:78923490C>T	ENST00000261751.3	-	4	398	c.287G>A	c.(286-288)cGc>cAc	p.R96H	CHRNB4_ENST00000412074.2_Missense_Mutation_p.R96H|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	96					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ACCCTCGTAGCGGGAGCTGTT	0.577													27	72					0	0	0	0	T	78923490	C	T	78923490	3	4	311	1	0	0	0	0	1	0	0	0	3422	768	27	1	1221	1	CHRNB4	15	78923490	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	2981305	78923490	23607902	139	55597											
HAPLN3	145864	broad.mit.edu	37	chr15	89424690	89424691	+	Frame_Shift_Del	DEL	GC	GC	-																															ccgcagatcctggatctccaGcgagacgtcatgctctttgt																								rs78894646	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:89424690_89424691delGC	ENST00000359595.3	-	3	604_605	c.390_391delGC	c.(388-393)tctgfs	p.SL130fs	HAPLN3_ENST00000562889.1_Frame_Shift_Del_p.SL192fs	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	130	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					TGGATCTCCAGCGAGACGTCAT	0.629													32	142	---	---	---	---					-	89424691	GC	-	89424690	7	5	311	1	0	1	0	1	0	0	0	0	7006	962	34	0	703	0	HAPLN3	15	89424690	Frame_Shift_Del	DEL	GC	TCGA-CV-7418-01A-11D-2078-08	10501200	89424690	13106702	140	55598											
POLG	5428	broad.mit.edu	37	chr15	89876485	89876485	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccgcccaggcccaagcCgggggcttcgggggcagctg	4	4	16	17	3	0	0	0	0	0	0	2	0	1	0	5	5	2	3	5	5	1	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr15:89876485C>T	ENST00000268124.5	-	2	834	c.501G>A	c.(499-501)ccG>ccA	p.P167P	POLG_ENST00000442287.2_Silent_p.P167P	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	167					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AGGCCCAAGCCGGGGGCTTCG	0.726								DNA polymerases (catalytic subunits)					8	15					0	0	0	0	T	89876485	C	T	89876485	2	4	311	1	0	0	0	0	0	0	0	1	12272	639	23	1		1	POLG	15	89876485	Silent	SNP	C	TCGA-CV-7418-01A-11D-2078-08	451795	89876485	12654907	141	55599											
TEKT5	146279	broad.mit.edu	37	chr16	10788556	10788556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaggtctggacgttggCtatcttgtagaagaggctag	8	10	16	7	2	2	2	0	0	2	2	2	3	2	3	0	5	0	5	0	5	4	5	rs16957557	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr16:10788556C>T	ENST00000283025.2	-	1	246	c.175G>A	c.(175-177)Gcc>Acc	p.A59T		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	59			A -> T (in dbSNP:rs16957557).		microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGGACGTTGGCTATCTTGTAG	0.607													3	50					0	0	0	0	T	10788556	C	T	10788556	3	4	311	1	0	0	0	0	1	0	0	0	15850	797	28	4	1310	4	TEKT5	16	10788556	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08		10788556	79566197	142	55600											
KIAA0556	23247	broad.mit.edu	37	chr16	27765493	27765493	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttctccaacccatgtgcaGatcccggagctagagctccc	8	8	9	16	1	1	2	0	0	1	2	4	3	3	3	4	1	4	4	4	1	2	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr16:27765493G>A	ENST00000261588.4	+	18	3571		c.e18-1			NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556											breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCCATGTGCAGATCCCGGAGC	0.562													31	30					0	0	0	0	A	27765493	G	A	27765493	5	1	311	1	0	0	0	0	0	0	1	0	8234	956	33	2	3622	2	KIAA0556	16	27765493	Splice_Site	SNP	G	TCGA-CV-7418-01A-11D-2078-08	16976937	27765493	62589260	143	55601											
CES2	8824	broad.mit.edu	37	chr16	66975087	66975087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccctggtgggctgcctgCggggcaagagtaaagaggag	9	5	19	8	1	0	2	0	0	0	2	0	3	0	3	2	6	2	3	2	6	3	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr16:66975087C>T	ENST00000317091.4	+	6	2053	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	CES2_ENST00000417689.1_Missense_Mutation_p.R357W	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	293					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGGCTGCCTGCGGGGCAAGAG	0.572													3	43					0	0	0	0	T	66975087	C	T	66975087	3	4	311	1	0	0	0	0	1	0	0	0	3299	759	27	1	1091	1	CES2	16	66975087	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	39209594	66975087	23379666	144	55602											
ELMO3	79767	broad.mit.edu	37	chr16	67234109	67234109	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccaggaccttgaggctgaGcagctcttgggtgggctgca	6	9	16	10	0	1	2	0	2	1	0	1	3	1	3	2	4	4	5	2	4	0	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr16:67234109G>A	ENST00000393997.2	+	5	474	c.417G>A	c.(415-417)gaG>gaA	p.E139E	ELMO3_ENST00000477898.1_5'UTR|ELMO3_ENST00000571638.1_3'UTR|ELMO3_ENST00000360833.1_Silent_p.E122E	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	86					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TTGAGGCTGAGCAGCTCTTGG	0.642													7	7					0	0	0	0	A	67234109	G	A	67234109	2	1	311	1	0	0	0	0	0	0	0	1	5105	962	34	4		4	ELMO3	16	67234109	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08	259022	67234109	23120644	145	55603											
MNT	4335	broad.mit.edu	37	chr17	2290453	2290453	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtgggccacatggttgagGgtggcagggtgcacagtgat	8	8	19	6	0	0	2	0	2	0	0	0	2	0	2	1	6	1	3	1	6	0	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:2290453G>C	ENST00000174618.4	-	6	1896	c.1491C>G	c.(1489-1491)acC>acG	p.T497T		NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	497					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CATGGTTGAGGGTGGCAGGGT	0.682													7	5					0	0	0	0	C	2290453	G	C	2290453	2	2	311	1	0	0	0	0	0	0	0	1	9748	1219	43	4		4	MNT	17	2290453	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08		2290453	78904757	146	55604											
ANKFY1	51479	broad.mit.edu	37	chr17	4098291	4098291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgtcgccgtgtcaggtgCgtctgtgtggctgccgcgct	2	11	15	13	5	2	0	1	0	1	0	3	0	2	0	3	2	2	2	3	2	0	0	rs147745463	by1000genomes	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:4098291C>T	ENST00000341657.4	-	10	1389	c.1354G>A	c.(1354-1356)Gca>Aca	p.A452T	ANKFY1_ENST00000433651.1_Missense_Mutation_p.A452T|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A494T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A452T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	452						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTGTCAGGTGCGTCTGTGTGG	0.572													14	31					0	0	0	0	T	4098291	C	T	4098291	3	4	311	1	0	0	0	0	1	0	0	0	626	768	27	1	2314	1	ANKFY1	17	4098291	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	1807838	4098291	77096919	147	55605											
TP53	7157	broad.mit.edu	37	chr17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgatgatggtgaggatgggCctccggttcatgccgcccat	6	10	15	10	2	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	0	1	rs28934571		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:7577534C>A	ENST00000420246.2	-	7	879	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000269305.4_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGAGGATGGGCCTCCGGTTCA	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			38	19					7.63091e-17	9.29887e-17	1	0	A	7577534	C	A	7577534	3	1	311	1	0	0	0	0	1	0	0	0	16476	738	26	4	543	4	TP53	17	7577534	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	3479243	7577534	73617676	148	55606											
MYH10	4628	broad.mit.edu	37	chr17	8383589	8383589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgtgcattgtcactcttCtgggcggcgctgcgctcggc	2	11	15	13	5	3	0	1	0	2	0	4	0	3	0	0	4	2	3	0	4	0	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:8383589C>A	ENST00000360416.3	-	40	5574	c.5436G>T	c.(5434-5436)caG>caT	p.Q1812H	MYH10_ENST00000379980.4_Missense_Mutation_p.Q1797H|MYH10_ENST00000396239.1_Missense_Mutation_p.Q1802H|MYH10_ENST00000269243.4_Missense_Mutation_p.Q1781H|NDEL1_ENST00000299734.7_Intron	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1781					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGTCACTCTTCTGGGCGGCGC	0.592													33	71					1.57351e-24	1.97131e-24	1	0	A	8383589	C	A	8383589	3	1	311	1	0	0	0	0	1	0	0	0	10100	912	32	2	603	2	MYH10	17	8383589	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	806055	8383589	72811621	149	55607											
PIGS	94005	broad.mit.edu	37	chr17	26882020	26882020	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcattagcccttcactcGtaggccctgaaagcaggcat	10	9	10	12	1	2	1	2	1	0	0	3	1	2	1	2	3	2	3	2	3	3	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:26882020G>C	ENST00000308360.7	-	11	1616	c.1241C>G	c.(1240-1242)aCg>aGg	p.T414R	PIGS_ENST00000543734.1_Missense_Mutation_p.T353R|PIGS_ENST00000395346.2_Missense_Mutation_p.T406R	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	414					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCTTCACTCGTAGGCCCTGA	0.592													18	25					0	0	0	0	C	26882020	G	C	26882020	3	2	311	1	0	0	0	0	1	0	0	0	11970	1145	40	3	434	3	PIGS	17	26882020	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	18498431	26882020	54313190	150	55608											
SLC6A4	6532	broad.mit.edu	37	chr17	28537590	28537590	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaccacggcgagcacgaaCcgctcccggcgcttggccca	8	4	12	17	6	0	1	0	1	0	0	1	3	1	1	4	3	2	3	4	3	1	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:28537590C>T	ENST00000401766.2	-	10	1904	c.1392G>A	c.(1390-1392)cgG>cgA	p.R464R	SLC6A4_ENST00000261707.3_Silent_p.R464R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	464					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CGAGCACGAACCGCTCCCGGC	0.597													12	48					0	0	0	0	T	28537590	C	T	28537590	2	4	311	1	0	0	0	0	0	0	0	1	14774	494	18	4		4	SLC6A4	17	28537590	Silent	SNP	C	TCGA-CV-7418-01A-11D-2078-08	1655570	28537590	52657620	151	55609											
SYNRG	11276	broad.mit.edu	37	chr17	35896099	35896100	+	Frame_Shift_Ins	INS	-	-	A																															ctgtgagtgtggcgagtgacINSatgaagccgattaggttatt																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:35896099_35896100insA	ENST00000339208.6	-	19	3787_3788	c.3647_3648insT	c.(3646-3648)atcfs	p.I1216fs	SYNRG_ENST00000345615.4_Frame_Shift_Ins_p.I1138fs|SYNRG_ENST00000591288.1_Frame_Shift_Ins_p.I1010fs|SYNRG_ENST00000585472.1_Frame_Shift_Ins_p.I1137fs|SYNRG_ENST00000502449.2_Frame_Shift_Ins_p.I1093fs|SYNRG_ENST00000346661.4_Frame_Shift_Ins_p.I1216fs|SYNRG_ENST00000394378.2_Frame_Shift_Ins_p.I1138fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1216					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGCGAGTGACATGAAGCCGAT	0.46													9	63	---	---	---	---					A	35896100	-	A	35896099	7	5	311	1	0	1	1	0	0	0	0	0	15551	478	17	0	385	0	SYNRG	17	35896099	Frame_Shift_Ins	INS	-	TCGA-CV-7418-01A-11D-2078-08	7358509	35896099	45299111	152	55610											
CACNB1	782	broad.mit.edu	37	chr17	37347836	37347836	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacggctggtgtaggacTccgctgagccctgaaaatag	10	8	14	9	2	0	2	0	2	0	0	1	4	1	4	2	4	1	3	2	4	4	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:37347836T>C	ENST00000394303.3	-	3	389	c.182A>G	c.(181-183)gAg>gGg	p.E61G	CACNB1_ENST00000394310.3_Missense_Mutation_p.E61G|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000344140.5_Missense_Mutation_p.E61G	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	61					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GGTGTAGGACTCCGCTGAGCC	0.597													11	23					0	0	0	0	C	37347836	T	C	37347836	3	2	311	1	0	0	0	0	1	0	0	0	2577	1551	54	5	1926	5	CACNB1	17	37347836	Missense_Mutation	SNP	T	TCGA-CV-7418-01A-11D-2078-08	1451737	37347836	43847374	153	55611											
GRB7	2886	broad.mit.edu	37	chr17	37899470	37899470	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgagtccgtggtggaagtGcaggctgcctggcccgtggg	5	7	18	11	3	0	0	0	0	0	0	1	2	1	1	3	5	2	2	3	5	1	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:37899470G>T	ENST00000309156.4	+	5	758	c.501G>T	c.(499-501)gtG>gtT	p.V167V	GRB7_ENST00000309185.3_Silent_p.V167V|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000445327.2_Silent_p.V190V|GRB7_ENST00000394204.1_Silent_p.V167V|GRB7_ENST00000394211.3_Silent_p.V167V|GRB7_ENST00000394209.2_Silent_p.V167V	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	167	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGTGGAAGTGCAGGCTGCCT	0.582													8	82					2.17888e-05	2.39354e-05	1	0	T	37899470	G	T	37899470	2	4	311	1	0	0	0	0	0	0	0	1	6809	1306	46	4		4	GRB7	17	37899470	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08	551634	37899470	43295740	154	55612											
KLHL10	317719	broad.mit.edu	37	chr17	39994252	39994252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggagaggaagatgagtgCgatggcctgtgagatcttca	11	9	15	6	1	2	4	1	2	1	3	2	8	2	5	1	3	1	0	1	3	1	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:39994252C>T	ENST00000293303.4	+	1	221	c.68C>T	c.(67-69)gCg>gTg	p.A23V	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	23						cytoplasm		p.A23V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AAGATGAGTGCGATGGCCTGT	0.562													38	73					0	0	0	0	T	39994252	C	T	39994252	3	4	311	1	0	0	0	0	1	0	0	0	8418	768	27	1	70	1	KLHL10	17	39994252	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	2094782	39994252	41200958	155	55613											
HELZ	9931	broad.mit.edu	37	chr17	65186378	65186378	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcaattttatcagccgTgaagcatatcttttctgcca	9	17	6	9	1	4	1	2	1	2	0	4	1	4	1	2	0	3	2	2	0	4	6			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:65186378T>G	ENST00000358691.5	-	10	817	c.651A>C	c.(649-651)tcA>tcC	p.S217S	HELZ_ENST00000580662.1_5'UTR|HELZ_ENST00000580168.1_Silent_p.S217S	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTATCAGCCGTGAAGCATATC	0.393													12	50					0	0	0	0	G	65186378	T	G	65186378	2	3	311	1	0	0	0	0	0	0	0	1	7099	1683	59	5		5	HELZ	17	65186378	Silent	SNP	T	TCGA-CV-7418-01A-11D-2078-08	25192126	65186378	16008832	156	55614											
OTOP2	92736	broad.mit.edu	37	chr17	72929559	72929559	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactccctctgggcggtcatCgtcaacatctgcctcccttt	5	13	7	16	2	4	0	2	0	2	0	7	0	6	0	3	2	3	0	3	2	2	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:72929559C>T	ENST00000331427.4	+	7	1700	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	OTOP2_ENST00000580223.1_Silent_p.I536I	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	536						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGCGGTCATCGTCAACATCT	0.592													15	77					0	0	0	0	T	72929559	C	T	72929559	2	4	311	1	0	0	0	0	0	0	0	1	11377	874	31	1		1	OTOP2	17	72929559	Silent	SNP	C	TCGA-CV-7418-01A-11D-2078-08	7743181	72929559	8265651	157	55615											
ZNF750	79755	broad.mit.edu	37	chr17	80790003	80790003	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccaggttttccttgatgtCttccctggcagagctgtgct	4	15	10	12	0	1	2	0	1	1	1	4	2	4	2	3	2	2	4	3	2	0	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:80790003C>G	ENST00000269394.3	-	2	1161	c.328G>C	c.(328-330)Gac>Cac	p.D110H	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	110						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCTTGATGTCTTCCCTGGCA	0.612													9	55					0	0	0	0	G	80790003	C	G	80790003	3	3	311	1	0	0	0	0	1	0	0	0	18226	913	32	2	1851	2	ZNF750	17	80790003	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	7860444	80790003	405207	158	55616											
ZNF521	25925	broad.mit.edu	37	chr18	22806653	22806653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaaataattgtttgttgCagtaaatacagctgtaggta	14	15	9	3	0	0	1	0	1	0	0	0	1	0	1	0	1	3	7	0	1	8	9			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr18:22806653C>A	ENST00000361524.3	-	4	1377	c.1229G>T	c.(1228-1230)tGc>tTc	p.C410F	ZNF521_ENST00000538137.2_Missense_Mutation_p.C410F|ZNF521_ENST00000584787.1_Missense_Mutation_p.C190F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	410					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGTTTGTTGCAGTAAATACA	0.438			T	PAX5	ALL								27	44					6.32553e-13	7.46346e-13	1	0	A	22806653	C	A	22806653	3	1	311	1	0	0	0	0	1	0	0	0	18060	710	25	4	2726	4	ZNF521	18	22806653	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08		22806653	55270595	159	55617											
CDH2	1000	broad.mit.edu	37	chr18	25589801	25589801	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctggcccagttacactgtaCcgcagtgaaaggtttttatc	9	12	9	11	1	0	1	0	1	0	0	1	1	0	1	3	2	2	4	3	2	4	5			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr18:25589801C>A	ENST00000269141.3	-	5	1005	c.582G>T	c.(580-582)cgG>cgT	p.R194R	CDH2_ENST00000399380.3_Silent_p.R163R	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	194	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTACACTGTACCGCAGTGAAA	0.483													28	44					1.77063e-15	2.14593e-15	1	0	A	25589801	C	A	25589801	2	1	311	1	0	0	0	0	0	0	0	1	3134	494	18	4		4	CDH2	18	25589801	Silent	SNP	C	TCGA-CV-7418-01A-11D-2078-08	2783148	25589801	52487447	160	55618											
KLHL14	57565	broad.mit.edu	37	chr18	30350122	30350122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggacagggtcacgttggCcgtgtagaggtactcgagca	9	7	16	9	3	1	1	1	0	0	1	2	3	1	2	1	4	2	4	1	4	2	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr18:30350122C>T	ENST00000359358.4	-	2	871	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	KLHL14_ENST00000358095.4_Missense_Mutation_p.A145T|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	145	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTCACGTTGGCCGTGTAGAGG	0.637													38	130					0	0	0	0	T	30350122	C	T	30350122	3	4	311	1	0	0	0	0	1	0	0	0	8422	739	26	4	1485	4	KLHL14	18	30350122	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	4760321	30350122	47727126	161	55619											
MBD1	4152	broad.mit.edu	37	chr18	47799236	47799236	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctcttcctctggggccaaTttggaggcagaatcatcctt	7	12	10	12	0	3	1	1	0	2	1	5	2	5	2	4	4	0	1	4	4	2	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr18:47799236T>C	ENST00000591416.1	-	14	2105	c.1674A>G	c.(1672-1674)aaA>aaG	p.K558K	MBD1_ENST00000382948.5_Silent_p.K558K|MBD1_ENST00000347968.3_Silent_p.K502K|MBD1_ENST00000398488.1_Silent_p.K456K|MBD1_ENST00000398495.2_Silent_p.K527K|MBD1_ENST00000398493.1_Silent_p.K502K|MBD1_ENST00000424334.2_Silent_p.K609K|MBD1_ENST00000436910.1_Silent_p.K489K|MBD1_ENST00000349085.2_Silent_p.K456K|MBD1_ENST00000591535.1_Silent_p.K489K|MBD1_ENST00000353909.3_Silent_p.K509K|MBD1_ENST00000339998.6_Silent_p.K512K|MBD1_ENST00000588937.1_Silent_p.K489K|MBD1_ENST00000585595.1_Silent_p.K583K|MBD1_ENST00000590208.1_Silent_p.K558K|MBD1_ENST00000585672.1_Silent_p.K508K|MBD1_ENST00000269468.5_Silent_p.K558K|MBD1_ENST00000457839.2_Silent_p.K583K|MBD1_ENST00000587605.1_Silent_p.K456K|MBD1_ENST00000269471.5_Silent_p.K489K			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	558	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTGGGGCCAATTTGGAGGCAG	0.607													3	49					0	0	0	0	C	47799236	T	C	47799236	2	2	311	1	0	0	0	0	0	0	0	1	9411	1490	52	5		5	MBD1	18	47799236	Silent	SNP	T	TCGA-CV-7418-01A-11D-2078-08	17449114	47799236	30278012	162	55620											
CHAF1A	10036	broad.mit.edu	37	chr19	4432045	4432045	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcgctttcgcgtcctgCaacctgtgaagatcggctgc	7	9	13	12	4	0	2	0	1	0	1	3	3	1	3	2	2	4	3	2	2	3	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:4432045C>T	ENST00000301280.5	+	12	2145	c.2044C>T	c.(2044-2046)Caa>Taa	p.Q682*	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	682	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCGTCCTGCAACCTGTGAA	0.602								Chromatin Structure					25	56					0	0	0	0	T	4432045	C	T	4432045	4	4	311	1	0	0	0	0	0	1	0	0	3340	711	25	4	2090	4	CHAF1A	19	4432045	Nonsense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08		4432045	54696938	163	55621											
OR7E24	26648	broad.mit.edu	37	chr19	9361989	9361989	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtccttggctgacatcggTttcacctccaccacggtccc	5	11	8	17	2	1	1	1	1	0	0	5	1	4	1	5	3	0	2	5	3	0	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:9361989T>G	ENST00000456448.1	+	1	384	c.270T>G	c.(268-270)ggT>ggG	p.G90G		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CTGACATCGGTTTCACCTCCA	0.532													23	27					0	0	0	0	G	9361989	T	G	9361989	2	3	311	1	0	0	0	0	0	0	0	1	11292	1712	60	5		5	OR7E24	19	9361989	Silent	SNP	T	TCGA-CV-7418-01A-11D-2078-08	4929944	9361989	49766994	164	55622											
ICAM3	3385	broad.mit.edu	37	chr19	10446518	10446518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcgggctgccggctcagctCctcctcccagcgaagcagca	6	6	12	17	3	1	0	1	0	0	0	4	1	4	0	4	2	6	5	4	2	1	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:10446518C>T	ENST00000589261.1	-	3	779	c.247G>A	c.(247-249)Gag>Aag	p.E83K	ICAM3_ENST00000160262.5_Missense_Mutation_p.E160K			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	160	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CGGCTCAGCTCCTCCTCCCAG	0.677													3	10					0	0	0	0	T	10446518	C	T	10446518	3	4	311	1	0	0	0	0	1	0	0	0	7534	864	30	2	1185	2	ICAM3	19	10446518	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	1084529	10446518	48682465	165	55623											
PGLYRP2	114770	broad.mit.edu	37	chr19	15587132	15587132	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctccacagccacggtcgAgccatcaggtgccagcacca	10	4	11	16	2	1	0	1	0	0	0	3	1	2	0	5	3	4	2	5	3	0	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:15587132A>T	ENST00000292609.4	-	2	478	c.349T>A	c.(349-351)Tcg>Acg	p.S117T	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.S117T			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	117					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCCACGGTCGAGCCATCAGGT	0.627													43	68					0	0	0	0	T	15587132	A	T	15587132	3	4	311	1	0	0	0	0	1	0	0	0	11866	304	11	5	1397	5	PGLYRP2	19	15587132	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	5140614	15587132	43541851	166	55624											
DDX49	54555	broad.mit.edu	37	chr19	19035702	19035702	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctccaggggcctggacaTccctacggtacaggtggtca	7	8	13	13	1	1	0	1	0	0	0	3	1	3	1	4	6	3	1	4	6	2	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:19035702T>A	ENST00000438170.2	+	10	1061	c.649T>A	c.(649-651)Tcc>Acc	p.S217T	DDX49_ENST00000247003.4_Missense_Mutation_p.I314N|DDX49_ENST00000599156.1_3'UTR|AC002985.3_ENST00000596918.1_Intron			Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	0							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GGCCTGGACATCCCTACGGTA	0.637													23	27					0	0	0	0	A	19035702	T	A	19035702	3	1	311	1	0	0	0	0	1	0	0	0	4398	1435	50	5	975	5	DDX49	19	19035702	Missense_Mutation	SNP	T	TCGA-CV-7418-01A-11D-2078-08	3448570	19035702	40093281	167	55625											
HAPLN4	404037	broad.mit.edu	37	chr19	19369367	19369367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcagaaggcgtcgtagCgttcctcggcgttatggcga	8	9	15	9	6	0	2	0	1	0	1	3	3	1	2	1	3	2	4	1	3	4	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:19369367C>T	ENST00000291481.7	-	4	845	c.782G>A	c.(781-783)cGc>cAc	p.R261H	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	261	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GGCGTCGTAGCGTTCCTCGGC	0.687													20	24					0	0	0	0	T	19369367	C	T	19369367	3	4	311	1	0	0	0	0	1	0	0	0	7007	768	27	1	434	1	HAPLN4	19	19369367	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	333665	19369367	39759616	168	55626											
ZNF737	100129842	broad.mit.edu	37	chr19	20728176	20728176	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggtttctctccagtatgaAttatcttatgtgtagtaagg	10	16	10	5	0	2	1	0	1	2	0	4	1	3	1	1	2	0	4	1	2	6	6			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:20728176A>T	ENST00000427401.4	-	4	927	c.833T>A	c.(832-834)aTt>aAt	p.I278N		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	278					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCCAGTATGAATTATCTTATG	0.408													14	18					0	0	0	0	T	20728176	A	T	20728176	3	4	311	1	0	0	0	0	1	0	0	0	18220	101	4	5	781	5	ZNF737	19	20728176	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	1358809	20728176	38400807	169	55627											
ZNF573	126231	broad.mit.edu	37	chr19	38262306	38262306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccgagagaagtctatggCcacatccctgaatgtcacta	11	9	9	12	1	2	2	1	1	1	1	3	4	3	2	3	1	1	0	3	1	4	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:38262306C>T	ENST00000590414.2	-	2	121	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	ZNF573_ENST00000357309.3_Intron|ZNF573_ENST00000392138.1_5'UTR|ZNF573_ENST00000536220.1_5'UTR|ZNF573_ENST00000585724.1_Intron|ZNF573_ENST00000339503.4_5'UTR			Q86YE8	ZN573_HUMAN	zinc finger protein 573	14	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			AAGTCTATGGCCACATCCCTG	0.408													6	22					0	0	0	0	T	38262306	C	T	38262306	3	4	311	1	0	0	0	0	1	0	0	0	18100	739	26	4	2034	4	ZNF573	19	38262306	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	17534130	38262306	20866677	170	55628											
GRIN2D	2906	broad.mit.edu	37	chr19	48946565	48946565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcggcgcgtcgctgggcGgcctggagccctggtggttc	1	8	20	12	5	0	0	0	0	0	0	2	1	0	1	2	7	1	2	2	7	0	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr19:48946565G>A	ENST00000263269.3	+	13	3470	c.3382G>A	c.(3382-3384)Ggc>Agc	p.G1128S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	1128						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GTCGCTGGGCGGCCTGGAGCC	0.756													6	8					0	0	0	0	A	48946565	G	A	48946565	3	1	311	1	0	0	0	0	1	0	0	0	6832	1116	39	1	3428	1	GRIN2D	19	48946565	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	10684259	48946565	10182418	171	55629											
FUT2	2524	broad.mit.edu	37	chr19	49206855	49206855	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgccaaaagtgtggaaGggggtggtggccgaccggcg	8	6	19	8	3	1	0	1	0	0	0	1	2	1	1	3	6	1	0	3	6	3	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:49206855G>C	ENST00000425340.2	+	2	759	c.642G>C	c.(640-642)aaG>aaC	p.K214N	FUT2_ENST00000391876.4_Missense_Mutation_p.K214N	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	214					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		AAGTGTGGAAGGGGGTGGTGG	0.627													34	54					0	0	0	0	C	49206855	G	C	49206855	3	2	311	1	0	0	0	0	1	0	0	0	6152	991	35	4	644	4	FUT2	19	49206855	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	260290	49206855	9922128	172	55630											
FTL	2512	broad.mit.edu	37	chr19	49469858	49469861	+	Frame_Shift_Del	DEL	ACTC	ACTC	-																															agctctgtgacttcctggagActcacttcctagatgaggaa																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:49469858_49469861delACTC	ENST00000331825.6	+	4	601_604	c.394_397delACTC	c.(394-399)acfs	p.TH132fs		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	132	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	CTTCCTGGAGACTCACTTCCTAGA	0.525													60	157	---	---	---	---					-	49469861	ACTC	-	49469858	7	5	311	1	0	1	0	1	0	0	0	0	6132	275	10	0	408	0	FTL	19	49469858	Frame_Shift_Del	DEL	ACTC	TCGA-CV-7418-01A-11D-2078-08	263003	49469858	9659125	173	55631											
LILRB5	10990	broad.mit.edu	37	chr19	54754838	54754839	+	Frame_Shift_Ins	INS	-	-	G																															gtaaggaacgtggtgggggtINSggggaggcctgggggcctgg																								rs11375503		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:54754838_54754839insG	ENST00000450632.1	-	13	1873_1874	c.1796_1797insC	c.(1795-1797)cccfs	p.P599fs	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	424					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGTGGGGGTGGGGAGGCCTG	0.604													11	6	---	---	---	---					G	54754839	-	G	54754838	7	5	311	1	0	1	1	0	0	0	0	0	8848	1711	59	0		0	LILRB5	19	54754838	Frame_Shift_Ins	INS	-	TCGA-CV-7418-01A-11D-2078-08	5284980	54754838	4374145	174	55632											
BRSK1	84446	broad.mit.edu	37	chr19	55805723	55805723	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatgatggccgccgggcAgacatgtggagctgtggagt	10	8	16	7	2	0	2	0	1	0	1	0	4	0	4	2	4	1	2	2	4	2	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:55805723A>C	ENST00000309383.1	+	7	913	c.636A>C	c.(634-636)gcA>gcC	p.A212A	BRSK1_ENST00000585418.1_Silent_p.A212A|BRSK1_ENST00000590333.1_Silent_p.A228A	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	212	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCGCCGGGCAGACATGTGGA	0.587													10	24					0	0	0	0	C	55805723	A	C	55805723	2	2	311	1	0	0	0	0	0	0	0	1	1531	175	7	5		5	BRSK1	19	55805723	Silent	SNP	A	TCGA-CV-7418-01A-11D-2078-08	1050885	55805723	3323260	175	55633											
JAG1	182	broad.mit.edu	37	chr20	10620273	10620273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctctgtctaccagcGtgtacgccggctgcttggca	4	13	10	14	3	3	0	0	0	3	0	5	0	3	0	2	2	4	4	2	2	2	4			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr20:10620273G>A	ENST00000254958.5	-	26	4045	c.3530C>T	c.(3529-3531)aCg>aTg	p.T1177M	JAG1_ENST00000423891.2_Missense_Mutation_p.T1018M	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1177					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GTCTACCAGCGTGTACGCCGG	0.507									Alagille Syndrome				82	41					0	0	0	0	A	10620273	G	A	10620273	3	1	311	1	0	0	0	0	1	0	0	0	7987	1145	40	1	130	1	JAG1	20	10620273	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08		10620273	52405247	176	55634											
BTBD3	22903	broad.mit.edu	37	chr20	11903683	11903683	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaaataaacgcaaggttcTaggaaaggcactttacttga	16	10	9	6	1	1	2	0	2	1	0	1	3	1	3	0	3	2	3	0	3	8	6			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr20:11903683T>A	ENST00000405977.1	+	5	1563	c.938T>A	c.(937-939)cTa>cAa	p.L313Q	BTBD3_ENST00000254977.3_Missense_Mutation_p.L252Q|BTBD3_ENST00000399006.2_Missense_Mutation_p.L252Q|BTBD3_ENST00000378226.2_Missense_Mutation_p.L313Q			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	313										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CGCAAGGTTCTAGGAAAGGCA	0.463													37	37					0	0	0	0	A	11903683	T	A	11903683	3	1	311	1	0	0	0	0	1	0	0	0	1553	1522	53	5	952	5	BTBD3	20	11903683	Missense_Mutation	SNP	T	TCGA-CV-7418-01A-11D-2078-08	1283410	11903683	51121837	177	55635											
CST9L	128821	broad.mit.edu	37	chr20	23545618	23545618	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccaagcaggtcttgttcagGaggctgaactgagtcatcca	10	10	11	10	0	3	2	2	2	1	0	5	3	5	3	2	3	2	3	2	3	2	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr20:23545618G>C	ENST00000376979.3	-	3	709	c.411C>G	c.(409-411)ctC>ctG	p.L137L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	137						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TCTTGTTCAGGAGGCTGAACT	0.552													21	19					0	0	0	0	C	23545618	G	C	23545618	2	2	311	1	0	0	0	0	0	0	0	1	4012	1161	41	2		2	CST9L	20	23545618	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08	11641935	23545618	39479902	178	55636											
CEP250	11190	broad.mit.edu	37	chr20	34090746	34090746	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagagctcgagaaggatCgggagactcagaggaacgtc	13	5	15	8	3	2	4	2	0	0	4	5	9	2	6	0	3	2	1	0	3	2	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr20:34090746C>A	ENST00000397527.1	+	30	5269	c.4549C>A	c.(4549-4551)Cgg>Agg	p.R1517R	CEP250_ENST00000342580.4_Silent_p.R1461R	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1517	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGAGAAGGATCGGGAGACTCA	0.512													14	16					0.000151284	0.000162194	1	0	A	34090746	C	A	34090746	2	1	311	1	0	0	0	0	0	0	0	1	3281	875	31	3		3	CEP250	20	34090746	Silent	SNP	C	TCGA-CV-7418-01A-11D-2078-08	10545128	34090746	28934774	179	55637											
SYNJ1	8867	broad.mit.edu	37	chr21	34099218	34099218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacgccattctcctttcttCggaggcagccctgcgaaaac	9	9	9	14	3	2	0	0	0	2	0	4	3	2	1	3	2	4	1	3	2	3	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr21:34099218C>T	ENST00000382499.2	-	2	105	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	SYNJ1_ENST00000382491.3_5'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.E36K|SYNJ1_ENST00000357345.3_5'UTR	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	0							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTCCTTTCTTCGGAGGCAGCC	0.488													24	46					0	0	0	0	T	34099218	C	T	34099218	3	4	311	1	0	0	0	0	1	0	0	0	15543	893	31	1	4890	1	SYNJ1	21	34099218	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08		34099218	14030677	180	55638											
RIPK4	54101	broad.mit.edu	37	chr21	43166824	43166824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagcaccgctgcatgaGgcgtatcaggtggctgcagg	7	7	15	12	2	1	1	1	1	0	0	1	1	1	1	2	4	4	6	2	4	1	1	rs67846875		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr21:43166824G>A	ENST00000352483.2	-	5	845	c.781C>T	c.(781-783)Ctc>Ttc	p.L261F	RIPK4_ENST00000542057.1_Missense_Mutation_p.L198F|RIPK4_ENST00000332512.3_Missense_Mutation_p.L261F|RIPK4_ENST00000544709.1_Missense_Mutation_p.L198F			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	261						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						CGCTGCATGAGGCGTATCAGG	0.672													22	42					0	0	0	0	A	43166824	G	A	43166824	3	1	311	1	0	0	0	0	1	0	0	0	13468	1000	35	4	1589	4	RIPK4	21	43166824	Missense_Mutation	SNP	G	TCGA-CV-7418-01A-11D-2078-08	9067606	43166824	4963071	181	55639											
PCNT	5116	broad.mit.edu	37	chr21	47841931	47841931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagcccggggtcaggaggcCctgaggctcaaactgctggt	7	7	16	11	1	2	2	2	2	0	0	2	3	2	3	2	6	3	2	2	6	1	0			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr21:47841931C>G	ENST00000359568.5	+	32	7179	c.7072C>G	c.(7072-7074)Cct>Gct	p.P2358A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2358					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTCAGGAGGCCCTGAGGCTCA	0.612													22	49					0	0	0	0	G	47841931	C	G	47841931	3	3	311	1	0	0	0	0	1	0	0	0	11661	623	22	4	7198	4	PCNT	21	47841931	Missense_Mutation	SNP	C	TCGA-CV-7418-01A-11D-2078-08	4675107	47841931	287964	182	55640											
MYH9	4627	broad.mit.edu	37	chr22	36701124	36701124	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatgaaacccttgggaatGgagtttggagtcaggatctc	10	11	12	8	0	2	1	1	1	1	0	4	5	3	5	2	4	1	1	2	4	2	2			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr22:36701124G>T	ENST00000216181.5	-	18	2414	c.2184C>A	c.(2182-2184)tcC>tcA	p.S728S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	728	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTTGGGAATGGAGTTTGGAG	0.537			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				20	45					2.37509e-13	2.81726e-13	1	0	T	36701124	G	T	36701124	2	4	311	1	0	0	0	0	0	0	0	1	10112	1335	47	4		4	MYH9	22	36701124	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08		36701124	14603442	183	55641											
NDUFA6	4700	broad.mit.edu	37	chr22	42482286	42482286	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgtgtccgctgcttccaTactttaattgtttcttccag	7	17	6	11	1	1	0	0	0	1	0	4	0	4	0	3	0	2	3	3	0	2	7			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr22:42482286T>C	ENST00000498737.2	-	3	498	c.366A>G	c.(364-366)gtA>gtG	p.V122V	NDUFA6_ENST00000602404.1_Silent_p.V96V|SMDT1_ENST00000547929.1_Intron|NDUFA6_ENST00000470753.1_Silent_p.V39V	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	122					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5					NADH(DB00157)	GCTGCTTCCATACTTTAATTG	0.453													28	59					0	0	0	0	C	42482286	T	C	42482286	2	2	311	1	0	0	0	0	0	0	0	1	10339	1393	49	5		5	NDUFA6	22	42482286	Silent	SNP	T	TCGA-CV-7418-01A-11D-2078-08	5781162	42482286	8822280	184	55642											
OTUD5	55593	broad.mit.edu	37	chrX	48780923	48780923	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcttaccaaaggcagagggGgacatctgctgaatgagggc	11	6	16	8	0	1	3	0	2	1	1	1	4	1	4	1	5	2	3	1	5	3	1			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chrX:48780923G>T	ENST00000156084.4	-	8	1641	c.1581C>A	c.(1579-1581)tcC>tcA	p.S527S	OTUD5_ENST00000376488.3_Silent_p.S522S|OTUD5_ENST00000428668.2_Silent_p.S305S|OTUD5_ENST00000396743.3_Silent_p.S522S	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	527					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						AGGCAGAGGGGGACATCTGCT	0.607													8	3					0.000157383	0.000167926	1	0	T	48780923	G	T	48780923	2	4	311	1	0	0	0	0	0	0	0	1	11386	1219	43	4		4	OTUD5	23	48780923	Silent	SNP	G	TCGA-CV-7418-01A-11D-2078-08		48780923	106489637	185	55643											
ERCC6L	54821	broad.mit.edu	37	chrX	71426165	71426165	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagttcttctacacttccaaAcccctttggtaaagtagcta	12	13	5	11	0	2	0	0	0	2	0	3	0	3	0	3	1	3	4	3	1	7	8			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chrX:71426165A>C	ENST00000373657.1	-	3	2685	c.2083T>G	c.(2083-2085)Ttt>Gtt	p.F695V	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.F818V			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	818					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ACACTTCCAAACCCCTTTGGT	0.383													23	10					0	0	0	0	C	71426165	A	C	71426165	3	2	311	1	0	0	0	0	1	0	0	0	5256	43	2	5	1304	5	ERCC6L	23	71426165	Missense_Mutation	SNP	A	TCGA-CV-7418-01A-11D-2078-08	22645242	71426165	83844395	186	55644											
LPAR4	2846	broad.mit.edu	37	chrX	78011180	78011180	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaactctgtcctcttcttgTatgccctggtgcgctcccaa	6	13	7	15	1	3	0	0	0	3	0	5	0	5	0	3	1	3	2	3	1	3	3			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chrX:78011180T>G	ENST00000435339.2	+	2	1219	c.814T>G	c.(814-816)Tat>Gat	p.Y272D	LPAR4_ENST00000373301.2_Missense_Mutation_p.Y272D	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	272						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCTCTTCTTGTATGCCCTGGT	0.408													21	9					0	0	0	0	G	78011180	T	G	78011180	3	3	311	1	0	0	0	0	1	0	0	0	8971	1638	57	5	816	5	LPAR4	23	78011180	Missense_Mutation	SNP	T	TCGA-CV-7418-01A-11D-2078-08	6585015	78011180	77259380	187	55645											
CAPN6	827	broad.mit.edu	37	chrX	110490693	110490698	+	In_Frame_Del	DEL	TCCTCC	TCCTCC	-																															tctggacaggagaacggactTcctcctttccacatttgatg																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chrX:110490693_110490698delTCCTCC	ENST00000324068.1	-	12	1808_1813	c.1641_1646delGGAGGA	c.(1639-1647)aaa>aa	p.KEE547del	CAPN6_ENST00000541758.1_In_Frame_Del_p.KEE292del	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	547	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AGAACGGACTTCCTCCTTTCCACATT	0.393													21	26	---	---	---	---					-	110490698	TCCTCC	-	110490693	7	5	311	1	0	1	0	1	0	0	0	0	2655	1783	62	0	287	0	CAPN6	23	110490693	In_Frame_Del	DEL	TCCTCC	TCGA-CV-7418-01A-11D-2078-08	32479513	110490693	44779867	188	55646											
TBL1Y	90665	broad.mit.edu	37	chrY	6948772	6948773	+	Splice_Site	INS	-	-	C																															gtcctccctccctgctgcagINScccccgcccttgatgtggac																										TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chrY:6948772_6948773insC	ENST00000383032.1	+	14	1602_1603		c.e14-1		TBL1Y_ENST00000355162.2_Splice_Site|TBL1Y_ENST00000346432.3_Splice_Site	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked						transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						CCCTGCTGCAGCCCCCGCCCTT	0.51													34	15	---	---	---	---					C	6948773	-	C	6948772	8	5	311	1	0	1	1	0	0	0	1	0	15735	985	34	0	989	0	TBL1Y	24	6948772	Splice_Site	INS	-	TCGA-CV-7418-01A-11D-2078-08		6948772	52424794	189	55647											
PPIH	10465	broad.mit.edu	37	chr1	43124905	43124905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtccctttcaggcagttCtgcaccggagaattcaggtc	7	13	10	11	1	3	1	2	0	1	1	5	2	4	1	2	3	1	3	2	3	1	4			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:43124905C>G	ENST00000304979.3	+	3	160	c.138C>G	c.(136-138)ttC>ttG	p.F46L	PPIH_ENST00000372549.1_Missense_Mutation_p.F20L|PPIH_ENST00000372550.1_5'UTR|PPIH_ENST00000455203.2_5'UTR	NM_006347.3	NP_006338.1	O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	46	PPIase cyclophilin-type.				protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	TCAGGCAGTTCTGCACCGGAG	0.483													30	120					0	0	0	0	G	43124905	C	G	43124905	3	3	312	1	0	0	0	0	1	0	0	0	12401	912	32	2	148	2	PPIH	1	43124905	Missense_Mutation	SNP	C	TCGA-CV-7421-01A-11D-2078-08		43124905	206125716	1	55648											
GPSM2	29899	broad.mit.edu	37	chr1	109465042	109465042	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctctcaatattttagaaaAtcagtgcagatactattgga	14	14	6	7	0	2	2	2	0	1	2	4	3	3	3	1	1	2	1	1	1	7	6			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:109465042A>G	ENST00000406462.1	+	14	2217	c.1444A>G	c.(1444-1446)Atc>Gtc	p.I482V	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.I482V			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	482					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		ATTTTAGAAAATCAGTGCAGA	0.318													16	19					0	0	0	0	G	109465042	A	G	109465042	3	3	312	1	0	0	0	0	1	0	0	0	6785	101	4	5	1490	5	GPSM2	1	109465042	Missense_Mutation	SNP	A	TCGA-CV-7421-01A-11D-2078-08	66340137	109465042	139785579	2	55649											
KPRP	448834	broad.mit.edu	37	chr1	152732431	152732431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgtcctacgtgcagtgcGaagcgtcacaacctgttcag	9	9	12	11	3	2	0	2	0	0	0	3	1	3	0	2	1	5	2	2	1	3	2			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:152732431G>A	ENST00000368773.1	+	2	425	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	KPRP_ENST00000606109.1_Missense_Mutation_p.E123K	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	123	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGCAGTGCGAAGCGTCACA	0.493													57	116					0	0	0	0	A	152732431	G	A	152732431	3	1	312	1	0	0	0	0	1	0	0	0	8488	1059	37	1	369	1	KPRP	1	152732431	Missense_Mutation	SNP	G	TCGA-CV-7421-01A-11D-2078-08	43267389	152732431	96518190	3	55650											
RABGAP1L	9910	broad.mit.edu	37	chr1	174671345	174671345	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcactctttttactgccaAgttcccactctgcatggtgt	6	16	6	13	0	3	0	1	0	3	0	5	0	4	0	2	1	3	2	2	1	2	4			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:174671345A>T	ENST00000251507.4	+	17	2294	c.2120A>T	c.(2119-2121)aAg>aTg	p.K707M	RABGAP1L_ENST00000367687.1_Missense_Mutation_p.K33M|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.K34M|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.K14M	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	707	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TTTACTGCCAAGTTCCCACTC	0.428													7	52					0	0	0	0	T	174671345	A	T	174671345	3	4	312	1	0	0	0	0	1	0	0	0	13047	72	3	5	2182	5	RABGAP1L	1	174671345	Missense_Mutation	SNP	A	TCGA-CV-7421-01A-11D-2078-08	21938914	174671345	74579276	4	55651											
OR2L3	391192	broad.mit.edu	37	chr1	248224417	248224417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgtgtgctgatgataaCagggtcttggatcataggct	10	13	13	5	0	2	2	1	2	1	0	2	3	2	3	0	3	2	2	0	3	3	3			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:248224417C>T	ENST00000359959.3	+	1	434	c.434C>T	c.(433-435)aCa>aTa	p.T145I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTGATGATAACAGGGTCTTGG	0.423													11	124					0	0	0	0	T	248224417	C	T	248224417	3	4	312	1	0	0	0	0	1	0	0	0	11079	478	17	4	436	4	OR2L3	1	248224417	Missense_Mutation	SNP	C	TCGA-CV-7421-01A-11D-2078-08	73553072	248224417	1026204	5	55652											
ROCK2	9475	broad.mit.edu	37	chr2	11347878	11347878	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcagcattttgtttttcCaagttcattttcatttccat	8	21	4	8	0	3	0	3	0	0	0	5	0	5	0	2	0	1	4	2	0	1	9			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:11347878C>T	ENST00000315872.6	-	20	2971	c.2523G>A	c.(2521-2523)ttG>ttA	p.L841L	ROCK2_ENST00000401753.1_Silent_p.L598L	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	841					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTGTTTTTCCAAGTTCATTT	0.303													5	27					0	0	0	0	T	11347878	C	T	11347878	2	4	312	1	0	0	0	0	0	0	0	1	13603	593	21	4		4	ROCK2	2	11347878	Silent	SNP	C	TCGA-CV-7421-01A-11D-2078-08		11347878	231851495	6	55653											
FAM49A	81553	broad.mit.edu	37	chr2	16734259	16734259	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcatcgttcaagtgctttGtagtgaacctggatggagag	10	13	12	6	1	2	2	2	1	0	1	3	4	2	3	1	2	2	3	1	2	3	4			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:16734259G>C	ENST00000381323.3	-	12	1137	c.917C>G	c.(916-918)aCa>aGa	p.T306R	FAM49A_ENST00000406434.1_Missense_Mutation_p.T306R|FAM49A_ENST00000355549.2_Missense_Mutation_p.T306R	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	306						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CAAGTGCTTTGTAGTGAACCT	0.438													8	44					0	0	0	0	C	16734259	G	C	16734259	3	2	312	1	0	0	0	0	1	0	0	0	5622	1377	48	4	58	4	FAM49A	2	16734259	Missense_Mutation	SNP	G	TCGA-CV-7421-01A-11D-2078-08	5386381	16734259	226465114	7	55654											
EIF2AK2	5610	broad.mit.edu	37	chr2	37347201	37347201	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactttgtctagtttctcGcctcttcttttttcaatcca	8	19	3	11	1	5	0	1	0	4	0	7	0	6	0	2	0	1	1	2	0	4	7			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:37347201G>A	ENST00000233057.4	-	13	1471	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	EIF2AK2_ENST00000405334.1_Silent_p.G342G|EIF2AK2_ENST00000395127.2_Silent_p.G383G	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	383	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CTAGTTTCTCGCCTCTTCTTT	0.343													7	33					0	0	0	0	A	37347201	G	A	37347201	2	1	312	1	0	0	0	0	0	0	0	1	5033	1074	38	1		1	EIF2AK2	2	37347201	Silent	SNP	G	TCGA-CV-7421-01A-11D-2078-08	20612942	37347201	205852172	8	55655											
LRPPRC	10128	broad.mit.edu	37	chr2	44204310	44204310	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttactcgatttggttgaatgTttgcttcctccatttttgcc	5	20	7	9	1	0	1	0	1	0	0	3	2	2	1	3	1	3	3	3	1	2	7			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:44204310T>C	ENST00000260665.7	-	4	632	c.575A>G	c.(574-576)aAc>aGc	p.N192S	LRPPRC_ENST00000409946.1_Missense_Mutation_p.N192S|LRPPRC_ENST00000409659.1_Missense_Mutation_p.N192S	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	192					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGTTGAATGTTTGCTTCCTC	0.289													25	29					0	0	0	0	C	44204310	T	C	44204310	3	2	312	1	0	0	0	0	1	0	0	0	9029	1725	60	5	3749	5	LRPPRC	2	44204310	Missense_Mutation	SNP	T	TCGA-CV-7421-01A-11D-2078-08	6857109	44204310	198995063	9	55656											
MRPL53	116540	broad.mit.edu	37	chr2	74699750	74699750	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaacccgaacctgtttgAcaggccgcagaccaagccga	12	5	10	14	3	0	3	0	2	0	1	0	5	0	3	5	1	3	2	5	1	3	1			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:74699750A>G	ENST00000258105.7	-	1	699	c.38T>C	c.(37-39)gTc>gCc	p.V13A	MRPL53_ENST00000409710.1_Missense_Mutation_p.V13A	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	13						mitochondrion|ribosome				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						AACCTGTTTGACAGGCCGCAG	0.592													6	56					0	0	0	0	G	74699750	A	G	74699750	3	3	312	1	0	0	0	0	1	0	0	0	9887	275	10	5	312	5	MRPL53	2	74699750	Missense_Mutation	SNP	A	TCGA-CV-7421-01A-11D-2078-08	30495440	74699750	168499623	10	55657											
AUP1	550	broad.mit.edu	37	chr2	74754072	74754072	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctaaccccctcaccttcTtgcgtattcatatagtgctt	7	15	4	15	1	4	0	2	0	2	0	4	0	4	0	4	0	3	2	4	0	4	8			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:74754072T>C	ENST00000377526.3	-	11	1501	c.1192A>G	c.(1192-1194)Aga>Gga	p.R398G		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	464	CUE.					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						CCTCACCTTCTTGCGTATTCA	0.507													32	55					0	0	0	0	C	74754072	T	C	74754072	3	2	312	1	0	0	0	0	1	0	0	0	1224	1617	56	5	48	5	AUP1	2	74754072	Missense_Mutation	SNP	T	TCGA-CV-7421-01A-11D-2078-08	54322	74754072	168445301	11	55658											
POLR1A	25885	broad.mit.edu	37	chr2	86255166	86255166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatggcgagggtcgaccGcgatgcctgtcaaacgggag	10	5	17	9	5	1	1	1	0	0	1	2	6	1	2	2	3	2	0	2	3	1	0			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:86255166G>A	ENST00000263857.6	-	33	5282	c.4904C>T	c.(4903-4905)gCg>gTg	p.A1635V	POLR1A_ENST00000409681.1_Missense_Mutation_p.A1574V			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1635					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGGGTCGACCGCGATGCCTGT	0.542													8	28					0	0	0	0	A	86255166	G	A	86255166	3	1	312	1	0	0	0	0	1	0	0	0	12281	1087	38	1	266	1	POLR1A	2	86255166	Missense_Mutation	SNP	G	TCGA-CV-7421-01A-11D-2078-08	11501094	86255166	156944207	12	55659											
NEB	4703	broad.mit.edu	37	chr2	152426612	152426612	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacatcgctctgcagttcgtAggccttcttggcctgaatca	7	12	9	13	2	3	1	1	1	2	0	5	1	3	1	2	2	1	4	2	2	2	4			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:152426612A>C	ENST00000397345.3	-	109	17615	c.17413T>G	c.(17413-17415)Tac>Gac	p.Y5805D	NEB_ENST00000427231.2_Missense_Mutation_p.Y5805D|NEB_ENST00000604864.1_Missense_Mutation_p.Y5805D|NEB_ENST00000409198.1_Missense_Mutation_p.Y4104D|NEB_ENST00000603639.1_Missense_Mutation_p.Y5805D|NEB_ENST00000172853.10_Missense_Mutation_p.Y4104D	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5824					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCAGTTCGTAGGCCTTCTTG	0.507													2	9					0	0	0	0	C	152426612	A	C	152426612	3	2	312	1	0	0	0	0	1	0	0	0	10372	420	15	5	8569	5	NEB	2	152426612	Missense_Mutation	SNP	A	TCGA-CV-7421-01A-11D-2078-08	66171446	152426612	90772761	13	55660											
LRP2	4036	broad.mit.edu	37	chr2	170099508	170099508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgcaatcaaaaacacCatcacaacgatttgtgacgc	15	8	6	12	2	3	1	3	1	0	0	3	2	3	1	1	0	3	1	1	0	4	1			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:170099508C>T	ENST00000263816.3	-	24	3910	c.3625G>A	c.(3625-3627)Ggt>Agt	p.G1209S	LRP2_ENST00000443831.1_Missense_Mutation_p.G1072S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1209	LDL-receptor class A 12.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCAAAAACACCATCACAACGA	0.398													16	106					0	0	0	0	T	170099508	C	T	170099508	3	4	312	1	0	0	0	0	1	0	0	0	9020	594	21	4	10566	4	LRP2	2	170099508	Missense_Mutation	SNP	C	TCGA-CV-7421-01A-11D-2078-08	17672896	170099508	73099865	14	55661											
DZIP3	9666	broad.mit.edu	37	chr3	108355484	108355484	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttagtgggaaaaaatgtTtgaaggaaggatgtacaggt	14	12	14	1	0	0	1	0	1	0	0	0	4	0	4	0	4	1	3	0	4	7	4			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:108355484T>A	ENST00000361582.3	+	11	1170	c.940T>A	c.(940-942)Ttg>Atg	p.L314M	DZIP3_ENST00000463306.1_Missense_Mutation_p.L314M	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	314					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GAAAAAATGTTTGAAGGAAGG	0.274													8	111					0	0	0	0	A	108355484	T	A	108355484	3	1	312	1	0	0	0	0	1	0	0	0	4901	1838	64	5	978	5	DZIP3	3	108355484	Missense_Mutation	SNP	T	TCGA-CV-7421-01A-11D-2078-08		108355484	89666946	15	55662											
PIK3CB	5291	broad.mit.edu	37	chr3	138374244	138374244	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcgttaagatctgtagTctttccgaactgtgtgggcc	7	14	11	9	2	2	2	0	1	2	1	4	3	3	2	2	1	1	2	2	1	3	3			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:138374244T>A	ENST00000477593.1	-	23	3273	c.3200A>T	c.(3199-3201)gAc>gTc	p.D1067V	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1067V|PIK3CB_ENST00000544716.1_Missense_Mutation_p.D518V			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1067	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.D1067V(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGATCTGTAGTCTTTCCGAAC	0.408													37	63					0	0	0	0	A	138374244	T	A	138374244	3	1	312	1	0	0	0	0	1	0	0	0	11986	1667	58	5	14	5	PIK3CB	3	138374244	Missense_Mutation	SNP	T	TCGA-CV-7421-01A-11D-2078-08	30018760	138374244	59648186	16	55663											
TRIM42	287015	broad.mit.edu	37	chr3	140406956	140406956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caataaactacgtgcccttgGactttgttgagctttccagt	9	14	8	10	1	0	1	0	1	0	0	1	2	1	2	2	1	4	2	2	1	4	6			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:140406956G>T	ENST00000286349.3	+	3	1623	c.1432G>T	c.(1432-1434)Gac>Tac	p.D478Y		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	478	COS.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGTGCCCTTGGACTTTGTTGA	0.602													11	22					5.50884e-06	1.24413e-05	1	0	T	140406956	G	T	140406956	3	4	312	1	0	0	0	0	1	0	0	0	16612	1174	41	2	1442	2	TRIM42	3	140406956	Missense_Mutation	SNP	G	TCGA-CV-7421-01A-11D-2078-08	2032712	140406956	57615474	17	55664											
POLR2H	5437	broad.mit.edu	37	chr3	184082973	184082998	+	Frame_Shift_Del	DEL	GGATGATGGTGAATACAACCCCACTG	GGATGATGGTGAATACAACCCCACTG	-																															ttgtatgaagatggtaccctGgatgatggtgaatacaaccc																								rs112012928		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:184082973_184082998delGGATGATGGTGAATACAACCCCACTG	ENST00000456318.1	+	4	1259_1284	c.210_235delGGATGATGGTGAATACAACCCCACTG	c.(208-237)ctatfs	p.LDDGEYNPTD70fs	POLR2H_ENST00000429568.1_Frame_Shift_Del_p.LDDGEYNPTD70fs|POLR2H_ENST00000452961.1_Frame_Shift_Del_p.LDDGEYNPTD34fs|POLR2H_ENST00000296223.3_Frame_Shift_Del_p.LDDGEYNPTD70fs|POLR2H_ENST00000430783.1_Frame_Shift_Del_p.LDDGEYNPTD70fs|POLR2H_ENST00000438240.1_Frame_Shift_Del_p.LDDGEYNPTD34fs|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000443489.1_Frame_Shift_Del_p.LDDGEYNPTD34fs	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	70					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.P77P(1)|p.N76N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGGTACCCTGGATGATGGTGAATACAACCCCACTGATGATAGGCC	0.407													9	141	---	---	---	---					-	184082998	GGATGATGGTGAATACAACCCCACTG	-	184082973	7	5	312	1	0	1	0	1	0	0	0	0	12293	1335	47	0	220	0	POLR2H	3	184082973	Frame_Shift_Del	DEL	GGATGATGGTGAATACAACCCCACTG	TCGA-CV-7421-01A-11D-2078-08	43676017	184082973	13939457	18	55665											
RFC1	5981	broad.mit.edu	37	chr4	39310409	39310409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaattttccactttgttttCactgctgtcatcagccaaat	10	16	4	11	0	3	0	3	0	0	0	4	0	4	0	2	0	2	2	2	0	2	5			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:39310409C>G	ENST00000381897.1	-	13	1865	c.1732G>C	c.(1732-1734)Gaa>Caa	p.E578Q	RFC1_ENST00000349703.2_Missense_Mutation_p.E578Q	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	578					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACTTTGTTTTCACTGCTGTCA	0.463													26	131					0	0	0	0	G	39310409	C	G	39310409	3	3	312	1	0	0	0	0	1	0	0	0	13326	835	29	2	1763	2	RFC1	4	39310409	Missense_Mutation	SNP	C	TCGA-CV-7421-01A-11D-2078-08		39310409	151843867	19	55666											
PTPN13	5783	broad.mit.edu	37	chr4	87692491	87692491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agttacagtgacagcagtggGagtggagaagatgacttagt	13	9	15	4	0	0	4	0	2	0	2	0	6	0	5	0	2	2	2	0	2	3	2			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:87692491G>A	ENST00000436978.1	+	31	5466	c.4986G>A	c.(4984-4986)ggG>ggA	p.G1662G	PTPN13_ENST00000316707.6_Silent_p.G1466G|PTPN13_ENST00000511467.1_Silent_p.G1662G|PTPN13_ENST00000411767.2_Silent_p.G1657G|PTPN13_ENST00000427191.2_Silent_p.G1638G	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1657						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAGCAGTGGGAGTGGAGAAG	0.453													4	4					0	0	0	0	A	87692491	G	A	87692491	2	1	312	1	0	0	0	0	0	0	0	1	12862	1161	41	2		2	PTPN13	4	87692491	Silent	SNP	G	TCGA-CV-7421-01A-11D-2078-08	48382082	87692491	103461785	20	55667											
SYNPO2	171024	broad.mit.edu	37	chr4	119952308	119952308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacccaacctcctgccttccCcacatccaacccatcaaagg	11	6	3	21	0	1	0	1	0	0	0	4	0	4	0	8	1	3	0	8	1	3	1			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:119952308C>G	ENST00000307142.4	+	4	2574	c.2378C>G	c.(2377-2379)cCc>cGc	p.P793R	SYNPO2_ENST00000429713.2_Missense_Mutation_p.P793R|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P793R|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	793	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTGCCTTCCCCACATCCAAC	0.567													4	61					0	0	0	0	G	119952308	C	G	119952308	3	3	312	1	0	0	0	0	1	0	0	0	15548	623	22	4	2392	4	SYNPO2	4	119952308	Missense_Mutation	SNP	C	TCGA-CV-7421-01A-11D-2078-08	32259817	119952308	71201968	21	55668											
FABP2	2169	broad.mit.edu	37	chr4	120243207	120243207	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacccattttttccatgaaCttgtcatagttttcactccg	8	18	4	11	1	2	1	2	1	0	0	4	1	4	1	3	0	2	1	3	0	3	8			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:120243207C>T	ENST00000274024.3	-	1	338	c.51G>A	c.(49-51)aaG>aaA	p.K17K		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	17							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						TTTCCATGAACTTGTCATAGT	0.393													27	132					0	0	0	0	T	120243207	C	T	120243207	2	4	312	1	0	0	0	0	0	0	0	1	5398	564	20	4		4	FABP2	4	120243207	Silent	SNP	C	TCGA-CV-7421-01A-11D-2078-08	290899	120243207	70911069	22	55669											
SLC6A3	6531	broad.mit.edu	37	chr5	1422042	1422042	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaagtagagcagcacgatGaccagcaccaggcaggctgt	12	5	13	11	1	0	3	0	2	0	1	0	4	0	3	2	2	3	6	2	2	2	1			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr5:1422042G>C	ENST00000270349.9	-	5	868	c.741C>G	c.(739-741)gtC>gtG	p.V247V	SLC6A3_ENST00000453492.2_Silent_p.V247V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	247					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCAGCACGATGACCAGCACCA	0.647													7	88					0	0	0	0	C	1422042	G	C	1422042	2	2	312	1	0	0	0	0	0	0	0	1	14773	1277	45	2		2	SLC6A3	5	1422042	Silent	SNP	G	TCGA-CV-7421-01A-11D-2078-08		1422042	179493218	23	55670											
TRIO	7204	broad.mit.edu	37	chr5	14508431	14508431	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcgtcctcgacacgtccaGactgacttccttcattgagc	7	10	10	14	3	1	3	1	2	0	1	5	4	4	3	3	1	1	0	3	1	0	3			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr5:14508431G>C	ENST00000344204.4	+	57	9218	c.9194G>C	c.(9193-9195)aGa>aCa	p.R3065T	TRIO_ENST00000537187.1_Missense_Mutation_p.R2889T|TRIO_ENST00000344135.5_Missense_Mutation_p.R564T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	3065					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GACACGTCCAGACTGACTTCC	0.592													4	67					0	0	0	0	C	14508431	G	C	14508431	3	2	312	1	0	0	0	0	1	0	0	0	16647	942	33	2	9420	2	TRIO	5	14508431	Missense_Mutation	SNP	G	TCGA-CV-7421-01A-11D-2078-08	13086389	14508431	166406829	24	55671											
POLK	51426	broad.mit.edu	37	chr5	74892047	74892047	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtgattggtttaatttagGtgttcggatatctagttttc	7	21	10	3	1	1	1	0	1	1	0	3	2	1	2	0	3	0	3	0	3	4	11			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr5:74892047G>A	ENST00000241436.4	+	13	1701	c.1528_splice	c.e13-1	p.G510_splice	POLK_ENST00000504026.1_Intron|POLK_ENST00000352007.5_Splice_Site_p.G312_splice|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Splice_Site_p.G312_splice|POLK_ENST00000380481.3_Splice_Site_p.G420_splice	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	510					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TTTAATTTAGGTGTTCGGATA	0.373								DNA polymerases (catalytic subunits)					8	12					0	0	0	0	A	74892047	G	A	74892047	5	1	312	1	0	0	0	0	0	0	1	0	12276	1275	44	4	1575	4	POLK	5	74892047	Splice_Site	SNP	G	TCGA-CV-7421-01A-11D-2078-08	60383616	74892047	106023213	25	55672											
HLA-DRB1	3123	broad.mit.edu	37	chr6	32557568	32557569	+	Translation_Start_Site	INS	-	-	AT																															gagaagcaggcaagtctcacINStcagggagaactatgaaccc																								rs17204758		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:32557568_32557569insAT	ENST00000360004.5	-	0	56_57					NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCAAGTCTCACTCAGGGAGAAC	0.54										Multiple Myeloma(14;0.17)			2	4	---	---	---	---					AT	32557569	-	AT	32557568	6	5	312	1	0	1	1	0	0	0	0	0	7258	580	20	0		0	HLA-DRB1	6	32557568	Translation_Start_Site	INS	-	TCGA-CV-7421-01A-11D-2078-08		32557568	138557499	26	55673											
LEMD2	221496	broad.mit.edu	37	chr6	33744932	33744933	+	Frame_Shift_Ins	INS	-	-	TC																															acctataatcttcttcaccaINStctcatacatggcttgttcc																										TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:33744932_33744933insTC	ENST00000293760.5	-	7	1259_1260	c.1240_1241insGA	c.(1240-1242)ggtfs	p.G414fs	LEMD2_ENST00000508327.1_Frame_Shift_Ins_p.G112fs|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	414						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CTTCTTCACCATCTCATACATG	0.51													32	193	---	---	---	---					TC	33744933	-	TC	33744932	7	5	312	1	0	1	1	0	0	0	0	0	8773	217	8	0	282	0	LEMD2	6	33744932	Frame_Shift_Ins	INS	-	TCGA-CV-7421-01A-11D-2078-08	1187364	33744932	137370135	27	55674											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826614	34826614	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccccggcccatgtccgCgtgaggcttgaccactacca	7	8	9	17	3	0	2	0	2	0	0	2	2	2	2	6	2	1	1	6	2	1	3	rs149495470	by1000genomes	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:34826614C>T	ENST00000192788.5	+	14	2652	c.2481C>T	c.(2479-2481)cgC>cgT	p.R827R	UHRF1BP1_ENST00000452449.2_Silent_p.R827R	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	827										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCCATGTCCGCGTGAGGCTTG	0.527													29	101					0	0	0	0	T	34826614	C	T	34826614	2	4	312	1	0	0	0	0	0	0	0	1	17064	755	27	1		1	UHRF1BP1	6	34826614	Silent	SNP	C	TCGA-CV-7421-01A-11D-2078-08	1081682	34826614	136288453	28	55675											
SOBP	55084	broad.mit.edu	37	chr6	107956480	107956480	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccttaataaccccgcggAcgaggaccatgcctatgctc	11	7	9	14	3	0	0	0	0	0	0	1	4	0	2	5	2	4	1	5	2	4	3			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:107956480A>G	ENST00000317357.5	+	6	3091	c.2432A>G	c.(2431-2433)gAc>gGc	p.D811G	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	811							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AACCCCGCGGACGAGGACCAT	0.647													16	46					0	0	0	0	G	107956480	A	G	107956480	3	3	312	1	0	0	0	0	1	0	0	0	15000	275	10	5	2454	5	SOBP	6	107956480	Missense_Mutation	SNP	A	TCGA-CV-7421-01A-11D-2078-08	73129866	107956480	63158587	29	55676											
TCF21	6943	broad.mit.edu	37	chr6	134210564	134210564	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctccctcagcgatgtggAggaccttcaagaggtggaga	9	7	15	10	2	2	2	2	0	0	2	3	6	3	4	2	5	1	1	2	5	1	1			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:134210564A>G	ENST00000367882.4	+	1	289	c.29A>G	c.(28-30)gAg>gGg	p.E10G	TCF21_ENST00000237316.3_Missense_Mutation_p.E10G|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	10					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		AGCGATGTGGAGGACCTTCAA	0.532													6	60					0	0	0	0	G	134210564	A	G	134210564	3	3	312	1	0	0	0	0	1	0	0	0	15785	304	11	5	31	5	TCF21	6	134210564	Missense_Mutation	SNP	A	TCGA-CV-7421-01A-11D-2078-08	26254084	134210564	36904503	30	55677											
RSPH3	83861	broad.mit.edu	37	chr6	159403578	159403579	+	Frame_Shift_Ins	INS	-	-	TC																															aacttcagcacgttcactatINStccgtagttcttcatactca																										TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:159403578_159403579insTC	ENST00000367069.2	-	5	1270_1271	c.634_635insGA	c.(634-636)tagfs	p.*212fs	RSPH3_ENST00000252655.1_Frame_Shift_Ins_p.*354fs|RSPH3_ENST00000297262.3_Frame_Shift_Ins_p.*258fs|RSPH3_ENST00000449822.1_Frame_Shift_Ins_p.*116fs			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	354										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		ACGTTCACTATTCCGTAGTTCT	0.431													12	68	---	---	---	---					TC	159403579	-	TC	159403578	7	5	312	1	0	1	1	0	0	0	0	0	13790	1493	52	0	637	0	RSPH3	6	159403578	Frame_Shift_Ins	INS	-	TCGA-CV-7421-01A-11D-2078-08	25193014	159403578	11711489	31	55678											
PLEKHA8	84725	broad.mit.edu	37	chr7	30113748	30113748	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagttcgaggggtttttgcGgtaagtgatccttcttgtct	5	17	13	6	2	2	1	0	1	2	0	4	2	3	1	1	3	1	4	1	3	2	7			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr7:30113748G>T	ENST00000449726.1	+	13	1712	c.1362_splice	c.e13+1	p.A454_splice	PLEKHA8_ENST00000396259.1_Intron|PLEKHA8_ENST00000396257.2_Splice_Site_p.A454_splice|AC007285.7_ENST00000433088.1_RNA|PLEKHA8_ENST00000258679.7_Intron	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	454					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GGGTTTTTGCGGTAAGTGATC	0.403													10	11					0.00136819	0.00295706	1	0	T	30113748	G	T	30113748	5	4	312	1	0	0	0	0	0	0	1	0	12134	1131	39	3		3	PLEKHA8	7	30113748	Splice_Site	SNP	G	TCGA-CV-7421-01A-11D-2078-08		30113748	129024915	32	55679											
AP4M1	9179	broad.mit.edu	37	chr7	99703604	99703604	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaggtttatctaaagttgCgatgtgacctgctctcaaag	10	13	9	9	1	2	1	1	1	2	0	4	2	3	1	2	1	2	3	2	1	4	4			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr7:99703604C>T	ENST00000429084.1	+	12	1131	c.973C>T	c.(973-975)Cga>Tga	p.R325*	AP4M1_ENST00000359593.4_Nonsense_Mutation_p.R318*|AP4M1_ENST00000422582.1_Nonsense_Mutation_p.R190*|AP4M1_ENST00000421755.1_Nonsense_Mutation_p.R318*			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	318	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTAAAGTTGCGATGTGACCT	0.552													10	106					0	0	0	0	T	99703604	C	T	99703604	4	4	312	1	0	0	0	0	0	1	0	0	754	760	27	1	998	1	AP4M1	7	99703604	Nonsense_Mutation	SNP	C	TCGA-CV-7421-01A-11D-2078-08	69589856	99703604	59435059	33	55680											
CHRNB3	1142	broad.mit.edu	37	chr8	42587134	42587134	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttatcacgtattccttcgtCctgagacgcctgcctttatt	6	17	6	12	3	1	1	1	1	0	1	4	2	3	1	4	0	1	1	4	0	3	8			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:42587134C>G	ENST00000289957.2	+	5	812	c.684C>G	c.(682-684)gtC>gtG	p.V228V		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	228					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATTCCTTCGTCCTGAGACGCC	0.478													28	57					0	0	0	0	G	42587134	C	G	42587134	2	3	312	1	0	0	0	0	0	0	0	1	3421	842	30	2		2	CHRNB3	8	42587134	Silent	SNP	C	TCGA-CV-7421-01A-11D-2078-08		42587134	103776888	34	55681											
CHRNB3	1142	broad.mit.edu	37	chr8	42587173	42587173	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctataccctctttctcatCatcccctgcctggggctgtc	4	15	6	16	0	4	0	2	0	3	0	7	0	5	0	4	2	2	1	4	2	2	4			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:42587173C>A	ENST00000289957.2	+	5	851	c.723C>A	c.(721-723)atC>atA	p.I241I		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	241					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCTTTCTCATCATCCCCTGCC	0.468													26	49					3.73988e-18	8.84372e-18	1	0	A	42587173	C	A	42587173	2	1	312	1	0	0	0	0	0	0	0	1	3421	816	29	2		2	CHRNB3	8	42587173	Silent	SNP	C	TCGA-CV-7421-01A-11D-2078-08	39	42587173	103776849	35	55682											
PKHD1L1	93035	broad.mit.edu	37	chr8	110460576	110460576	+	Frame_Shift_Del	DEL	T	T	-																															ctcagccatgtccacagttgTatttgagtacccgcttaata																										TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:110460576delT	ENST00000378402.5	+	39	6085	c.5981delT	c.(5980-5982)gafs	p.V1994fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1994	IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCACAGTTGTATTTGAGTAC	0.393										HNSCC(38;0.096)			8	32	---	---	---	---					-	110460576	T	-	110460576	7	5	312	1	0	1	0	1	0	0	0	0	12044	1638	57	0	6135	0	PKHD1L1	8	110460576	Frame_Shift_Del	DEL	T	TCGA-CV-7421-01A-11D-2078-08	67873403	110460576	35903446	36	55683											
FAM135B	51059	broad.mit.edu	37	chr8	139164397	139164397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctctgggctactgatgtggGgagcagatacagacttggtt	8	11	14	8	0	1	3	0	1	1	2	1	4	1	4	1	4	3	3	1	4	2	4			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:139164397G>T	ENST00000395297.1	-	13	2491	c.2321C>A	c.(2320-2322)cCc>cAc	p.P774H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	774										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTGATGTGGGGAGCAGATAC	0.522										HNSCC(54;0.14)			8	99					1.58986e-06	3.63139e-06	1	0	T	139164397	G	T	139164397	3	4	312	1	0	0	0	0	1	0	0	0	5490	1232	43	4	1931	4	FAM135B	8	139164397	Missense_Mutation	SNP	G	TCGA-CV-7421-01A-11D-2078-08	28703821	139164397	7199625	37	55684											
NAPRT1	93100	broad.mit.edu	37	chr8	144658293	144658293	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcgtcaatgttgttgctGactacgatgaggactgactc	8	13	10	10	2	1	3	1	3	0	0	4	5	2	4	1	1	2	3	1	1	2	3			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:144658293G>A	ENST00000449291.2	-	8	1356	c.1062C>T	c.(1060-1062)gtC>gtT	p.V354V	RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000435154.3_Silent_p.V354V|NAPRT1_ENST00000426292.3_Silent_p.V354V|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000276844.7_Silent_p.V354V			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	354					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGTTGTTGCTGACTACGATGA	0.672													12	40					0	0	0	0	A	144658293	G	A	144658293	2	1	312	1	0	0	0	0	0	0	0	1	10235	1277	45	2		2	NAPRT1	8	144658293	Silent	SNP	G	TCGA-CV-7421-01A-11D-2078-08	5493896	144658293	1705729	38	55685											
SUSD1	64420	broad.mit.edu	37	chr9	114911525	114911525	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccccttcttgagtaccTgtacaaaaggtgccatcgtt	9	11	8	13	1	1	1	0	1	1	0	2	1	1	1	4	1	4	3	4	1	4	5			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr9:114911525T>A	ENST00000374270.3	-	3	544	c.373_splice	c.e3+1	p.T124_splice	SUSD1_ENST00000374264.2_Splice_Site_p.T124_splice|SUSD1_ENST00000374263.3_Splice_Site_p.T124_splice	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	124						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTTGAGTACCTGTACAAAAGG	0.458													39	211					0	0	0	0	A	114911525	T	A	114911525	5	1	312	1	0	0	0	0	0	0	1	0	15497	1594	55	5	1931	5	SUSD1	9	114911525	Splice_Site	SNP	T	TCGA-CV-7421-01A-11D-2078-08		114911525	26301906	39	55686											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123239729	123239729	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgattgtttcttttcCtggaaatgacaatgggcatt	9	17	9	6	0	2	3	0	3	2	0	3	4	3	4	1	2	0	2	1	2	2	5			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr9:123239729C>T	ENST00000349780.4	-	15	1806		c.e15-1		CDK5RAP2_ENST00000360822.3_Splice_Site|CDK5RAP2_ENST00000360190.4_Splice_Site|CDK5RAP2_ENST00000359309.3_Splice_Site	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2						brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|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						GTTTCTTTTCCTGGAAATGAC	0.358											OREG0019439	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	60					0	0	0	0	T	123239729	C	T	123239729	5	4	312	1	0	0	0	0	0	0	1	0	3175	695	24	4	4151	4	CDK5RAP2	9	123239729	Splice_Site	SNP	C	TCGA-CV-7421-01A-11D-2078-08	8328204	123239729	17973702	40	55687											
C10orf67	256815	broad.mit.edu	37	chr10	23633575	23633575	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagcagacccgcagctcGgtggccttggctttcatggc	5	8	14	14	3	1	1	1	0	0	1	2	1	1	1	2	4	2	5	2	4	0	2			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr10:23633575G>T	ENST00000323327.4	-	1	199	c.132C>A	c.(130-132)acC>acA	p.T44T	RP11-371A19.2_ENST00000443224.1_RNA	NM_153714.2	NP_714925.2	Q8IYJ2	CJ067_HUMAN	chromosome 10 open reading frame 67	44										central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						CCCGCAGCTCGGTGGCCTTGG	0.597													3	5					0.004672	0.00999013	1	0	T	23633575	G	T	23633575	2	4	312	1	0	0	0	0	0	0	0	1	1622	1103	39	3		3	C10orf67	10	23633575	Silent	SNP	G	TCGA-CV-7421-01A-11D-2078-08		23633575	111901172	41	55688											
SGPL1	8879	broad.mit.edu	37	chr10	72636950	72636950	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctctttctttggatttgtAgggtgccatctatggcatgg	5	17	12	7	0	3	0	0	0	3	0	4	1	3	1	1	4	1	2	1	4	2	5			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr10:72636950A>G	ENST00000373202.3	+	15	1766		c.e15-1			NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1						apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TTGGATTTGTAGGGTGCCATC	0.483													3	29					0	0	0	0	G	72636950	A	G	72636950	5	3	312	1	0	0	0	0	0	0	1	0	14305	434	15	5	1619	5	SGPL1	10	72636950	Splice_Site	SNP	A	TCGA-CV-7421-01A-11D-2078-08	49003375	72636950	62897797	42	55689											
SYNPO2L	79933	broad.mit.edu	37	chr10	75407893	75407893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagacaagaaggggggtGgggcggggctgaggcccccc	8	2	21	10	2	0	3	0	1	0	2	0	4	0	3	3	8	0	1	3	8	3	0			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr10:75407893G>A	ENST00000394810.2	-	4	1666	c.1517C>T	c.(1516-1518)cCa>cTa	p.P506L	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P282L|SYNPO2L_ENST00000372872.4_Missense_Mutation_p.P506L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	506	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GAAGGGGGGTGGGGCGGGGCT	0.677													3	8					0	0	0	0	A	75407893	G	A	75407893	3	1	312	1	0	0	0	0	1	0	0	0	15549	1348	47	4	1420	4	SYNPO2L	10	75407893	Missense_Mutation	SNP	G	TCGA-CV-7421-01A-11D-2078-08	2770943	75407893	60126854	43	55690											
MUC5B	727897	broad.mit.edu	37	chr11	1270883	1270883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgaccacaacagccaCtacgactgcatccactggat	13	6	8	14	1	0	2	0	1	0	1	1	4	1	3	3	1	5	2	3	1	2	1			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:1270883C>G	ENST00000447027.1	+	31	12840	c.12782C>G	c.(12781-12783)aCt>aGt	p.T4261S	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4258S|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4258	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAACAGCCACTACGACTGCA	0.677													4	63					0	0	0	0	G	1270883	C	G	1270883	3	3	312	1	0	0	0	0	1	0	0	0	10049	565	20	4	12904	4	MUC5B	11	1270883	Missense_Mutation	SNP	C	TCGA-CV-7421-01A-11D-2078-08		1270883	133735633	44	55691											
CALCB	797	broad.mit.edu	37	chr11	15098881	15098881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgccacctgtgtgactcatCggctggcaggcttgctgagc	5	10	13	13	1	1	2	1	2	0	0	2	2	1	2	2	3	3	4	2	3	0	1			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:15098881C>T	ENST00000523376.1	+	9	1569	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CALCB_ENST00000533448.1_Missense_Mutation_p.R92W|CALCB_ENST00000324229.6_Missense_Mutation_p.R92W			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	92					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TGTGACTCATCGGCTGGCAGG	0.567													6	11					0	0	0	0	T	15098881	C	T	15098881	3	4	312	1	0	0	0	0	1	0	0	0	2601	875	31	1	284	1	CALCB	11	15098881	Missense_Mutation	SNP	C	TCGA-CV-7421-01A-11D-2078-08	13827998	15098881	119907635	45	55692											
LRRC4C	57689	broad.mit.edu	37	chr11	40136993	40136993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagggagtgaagaggtcatGaggcagtaatgttagattat	14	10	14	3	0	1	4	1	2	0	2	1	5	1	5	0	3	0	3	0	3	5	3			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:40136993G>A	ENST00000278198.2	-	2	2813	c.850C>T	c.(850-852)Cat>Tat	p.H284Y	LRRC4C_ENST00000530763.1_Missense_Mutation_p.H284Y|LRRC4C_ENST00000528697.1_Missense_Mutation_p.H284Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H284Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	284					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGAGGTCATGAGGCAGTAAT	0.443													37	58					0	0	0	0	A	40136993	G	A	40136993	3	1	312	1	0	0	0	0	1	0	0	0	9072	1290	45	2	1076	2	LRRC4C	11	40136993	Missense_Mutation	SNP	G	TCGA-CV-7421-01A-11D-2078-08	25038112	40136993	94869523	46	55693											
RAPSN	5913	broad.mit.edu	37	chr11	47464319	47464319	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcctttgccatagttgttGacaagctctgccgccttgca	7	12	9	13	1	1	1	0	1	1	0	1	1	1	1	4	0	5	4	4	0	2	5			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:47464319G>C	ENST00000298854.2	-	3	792	c.579C>G	c.(577-579)gtC>gtG	p.V193V	RAPSN_ENST00000352508.3_Silent_p.V193V|RAPSN_ENST00000529341.1_Silent_p.V193V|RAPSN_ENST00000524487.1_Intron	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	193					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						CATAGTTGTTGACAAGCTCTG	0.612													13	26					0	0	0	0	C	47464319	G	C	47464319	2	2	312	1	0	0	0	0	0	0	0	1	13133	1277	45	2		2	RAPSN	11	47464319	Silent	SNP	G	TCGA-CV-7421-01A-11D-2078-08	7327326	47464319	87542197	47	55694											
SORL1	6653	broad.mit.edu	37	chr11	121384941	121384941	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccgcaccaatttatacatCtcagaggcagaggggctgaa	14	7	10	10	1	1	3	1	1	1	2	2	3	1	3	2	3	2	3	2	3	5	3			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:121384941C>T	ENST00000260197.7	+	8	1251	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	374					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATTTATACATCTCAGAGGCAG	0.507													6	75					0	0	0	0	T	121384941	C	T	121384941	2	4	312	1	0	0	0	0	0	0	0	1	15022	903	32	2		2	SORL1	11	121384941	Silent	SNP	C	TCGA-CV-7421-01A-11D-2078-08	73920622	121384941	13621575	48	55695											
CRTAM	56253	broad.mit.edu	37	chr11	122733161	122733161	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagcagaattttgtttttcCcctttcctagttactgatga	8	18	7	8	0	0	3	0	2	0	1	2	3	2	3	3	0	2	4	3	0	4	8			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:122733161C>A	ENST00000533709.1	+	1	151	c.45C>A	c.(43-45)tcC>tcA	p.S15S	CRTAM_ENST00000227348.4_Intron			O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	215					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TTTGTTTTTCCCCTTTCCTAG	0.438													20	49					1.00905e-13	2.35835e-13	1	0	A	122733161	C	A	122733161	2	1	312	1	0	0	0	0	0	0	0	1	3927	638	22	4		4	CRTAM	11	122733161	Silent	SNP	C	TCGA-CV-7421-01A-11D-2078-08	1348220	122733161	12273355	49	55696											
GAPDH	2597	broad.mit.edu	37	chr12	6646508	6646508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accaccaactgcttagcaccCctggccaaggtcatccatga	11	7	7	16	0	1	1	1	1	0	0	2	1	2	1	6	2	3	2	6	2	3	1			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr12:6646508C>T	ENST00000229239.5	+	7	1143	c.477C>T	c.(475-477)ccC>ccT	p.P159P	GAPDH_ENST00000396856.1_Silent_p.P84P|GAPDH_ENST00000396858.1_Silent_p.P117P|GAPDH_ENST00000396859.1_Silent_p.P159P|GAPDH_ENST00000396861.1_Silent_p.P159P	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	159					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	GCTTAGCACCCCTGGCCAAGG	0.577													15	39					0	0	0	0	T	6646508	C	T	6646508	2	4	312	1	0	0	0	0	0	0	0	1	6285	610	22	4		4	GAPDH	12	6646508	Silent	SNP	C	TCGA-CV-7421-01A-11D-2078-08		6646508	127205387	50	55697											
SOAT2	8435	broad.mit.edu	37	chr12	53516948	53516948	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgagtatatcttctgcttCgtcctggggttcttctatcc	5	17	8	11	1	4	1	0	1	4	0	7	1	6	1	2	2	1	3	2	2	3	7			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr12:53516948C>T	ENST00000301466.3	+	13	1380	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	440					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TCTTCTGCTTCGTCCTGGGGT	0.592													14	37					0	0	0	0	T	53516948	C	T	53516948	2	4	312	1	0	0	0	0	0	0	0	1	14999	883	31	1		1	SOAT2	12	53516948	Silent	SNP	C	TCGA-CV-7421-01A-11D-2078-08	46870440	53516948	80334947	51	55698											
RDH16	8608	broad.mit.edu	37	chr12	57351084	57351084	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagacatgcagccagcacccGcaagcctcgtgcatccagct	10	5	9	17	2	0	1	0	0	0	1	2	1	1	1	4	0	6	5	4	0	1	0			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr12:57351084G>T	ENST00000398138.3	-	1	1019	c.163C>A	c.(163-165)Cgg>Agg	p.R55R	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	55					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						GCCAGCACCCGCAAGCCTCGT	0.587													10	33					1.08611e-07	2.50928e-07	1	0	T	57351084	G	T	57351084	2	4	312	1	0	0	0	0	0	0	0	1	13276	1086	38	3		3	RDH16	12	57351084	Silent	SNP	G	TCGA-CV-7421-01A-11D-2078-08	3834136	57351084	76500811	52	55699											
NHLRC3	387921	broad.mit.edu	37	chr13	39618272	39618272	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaatgggacagggcctgCtaagttcaacatacctcaca	15	7	9	10	0	2	1	2	0	0	1	2	2	2	2	2	2	3	2	2	2	5	3			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr13:39618272C>G	ENST00000379600.3	+	5	954	c.632C>G	c.(631-633)gCt>gGt	p.A211G	NHLRC3_ENST00000379599.2_Missense_Mutation_p.A144G|NHLRC3_ENST00000470258.1_Missense_Mutation_p.A14G	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	211						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ACAGGGCCTGCTAAGTTCAAC	0.403													69	80					0	0	0	0	G	39618272	C	G	39618272	3	3	312	1	0	0	0	0	1	0	0	0	10477	797	28	4	650	4	NHLRC3	13	39618272	Missense_Mutation	SNP	C	TCGA-CV-7421-01A-11D-2078-08		39618272	75551606	53	55700											
OR4K17	390436	broad.mit.edu	37	chr14	20585923	20585923	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgaacttgttaaaaaagCagaaggtaatttcttttgct	13	16	7	5	0	2	2	0	1	2	1	2	2	2	2	0	1	3	4	0	1	6	7			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:20585923C>G	ENST00000315543.4	+	1	358	c.358C>G	c.(358-360)Cag>Gag	p.Q120E		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTTAAAAAAGCAGAAGGTAAT	0.413													45	78					0	0	0	0	G	20585923	C	G	20585923	3	3	312	1	0	0	0	0	1	0	0	0	11142	711	25	4	360	4	OR4K17	14	20585923	Missense_Mutation	SNP	C	TCGA-CV-7421-01A-11D-2078-08		20585923	86763617	54	55701											
OR11H6	122748	broad.mit.edu	37	chr14	20692287	20692287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagttatggcttatgatcGgtacctggccatctgtcgtc	7	14	10	10	2	2	1	1	1	1	0	5	1	2	1	2	3	1	3	2	3	3	3	rs146448571		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:20692287G>A	ENST00000315519.2	+	1	497	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R140Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTATGATCGGTACCTGGCC	0.428													10	81					0	0	0	0	A	20692287	G	A	20692287	3	1	312	1	0	0	0	0	1	0	0	0	11000	1116	39	1	421	1	OR11H6	14	20692287	Missense_Mutation	SNP	G	TCGA-CV-7421-01A-11D-2078-08	106364	20692287	86657253	55	55702											
SPATA7	55812	broad.mit.edu	37	chr14	88892892	88892892	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatcttttggataaacattCtgaactcttttctaacaaac	13	15	5	8	0	4	1	0	1	4	0	4	3	4	3	0	2	4	0	0	2	5	7			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:88892892C>G	ENST00000556553.1	+	6	1152	c.593C>G	c.(592-594)tCt>tGt	p.S198C	SPATA7_ENST00000393545.4_Missense_Mutation_p.S230C|SPATA7_ENST00000356583.5_Missense_Mutation_p.S198C|SPATA7_ENST00000045347.7_Missense_Mutation_p.S230C			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	230					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GATAAACATTCTGAACTCTTT	0.428													15	51					0	0	0	0	G	88892892	C	G	88892892	3	3	312	1	0	0	0	0	1	0	0	0	15104	913	32	2	711	2	SPATA7	14	88892892	Missense_Mutation	SNP	C	TCGA-CV-7421-01A-11D-2078-08	68200605	88892892	18456648	56	55703											
DYNC1H1	1778	broad.mit.edu	37	chr14	102502847	102502847	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccgctgatcattgacccCtctggacaggccacagaatt	10	10	8	13	1	2	3	1	2	1	1	3	4	3	4	4	2	0	1	4	2	2	3			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:102502847C>A	ENST00000360184.4	+	57	10940	c.10776C>A	c.(10774-10776)ccC>ccA	p.P3592P	RP11-1017G21.4_ENST00000557551.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3592	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCATTGACCCCTCTGGACAGG	0.488													13	67					0.000151284	0.000337869	1	0	A	102502847	C	A	102502847	2	1	312	1	0	0	0	0	0	0	0	1	4877	668	24	4		4	DYNC1H1	14	102502847	Silent	SNP	C	TCGA-CV-7421-01A-11D-2078-08	13609955	102502847	4846693	57	55704											
BTBD1	53339	broad.mit.edu	37	chr15	83710628	83710628	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacagctccaaaaagtcgActttctcgaatactgagtgt	14	10	7	10	2	1	1	0	1	1	0	4	3	2	1	1	0	3	1	1	0	5	2			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr15:83710628A>G	ENST00000261721.4	-	4	916	c.714T>C	c.(712-714)agT>agC	p.S238S	RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Silent_p.S238S|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	238						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		CAAAAAGTCGACTTTCTCGAA	0.373													18	39					0	0	0	0	G	83710628	A	G	83710628	2	3	312	1	0	0	0	0	0	0	0	1	1545	272	10	5		5	BTBD1	15	83710628	Silent	SNP	A	TCGA-CV-7421-01A-11D-2078-08		83710628	18820764	58	55705											
SLC5A2	6524	broad.mit.edu	37	chr16	31500299	31500299	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgattacatccaggcagtctCtagctacctggcaccgcccg	8	8	9	16	3	1	0	0	0	1	0	3	1	2	0	4	2	3	3	4	2	3	3			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr16:31500299C>G	ENST00000330498.3	+	11	1398	c.1379C>G	c.(1378-1380)tCt>tGt	p.S460C		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	460					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CAGGCAGTCTCTAGCTACCTG	0.662													10	18					0	0	0	0	G	31500299	C	G	31500299	3	3	312	1	0	0	0	0	1	0	0	0	14753	913	32	2	1421	2	SLC5A2	16	31500299	Missense_Mutation	SNP	C	TCGA-CV-7421-01A-11D-2078-08		31500299	58854454	59	55706											
TP53	7157	broad.mit.edu	37	chr17	7578549	7578549	+	Silent	SNP	G	G	A																															aacatcttgttgagggcaggGgagtactgtaggaagaggaa																										TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:7578549G>A	ENST00000420246.2	-	5	513	c.381C>T	c.(379-381)tcC>tcT	p.S127S	TP53_ENST00000445888.2_Silent_p.S127S|TP53_ENST00000455263.2_Silent_p.S127S|TP53_ENST00000269305.4_Silent_p.S127S|TP53_ENST00000359597.4_Silent_p.S127S|TP53_ENST00000413465.2_Silent_p.S127S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.S127F(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGAGGGCAGGGGAGTACTGTA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	11					0	0	0	0	A	7578549	G	A	7578549	2	1	312	1	0	0	0	0	0	0	0	1	16476	1219	43	4		4	TP53	17	7578549	Silent	SNP	G	TCGA-CV-7421-01A-11D-2078-08		7578549	73616661	60	55707	451	2									
TP53	7157	broad.mit.edu	37	chr17	7578550	7578550	+	Missense_Mutation	SNP	G	G	A																															acatcttgttgagggcagggGagtactgtaggaagaggaag																										TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:7578550G>A	ENST00000420246.2	-	5	512	c.380C>T	c.(379-381)tCc>tTc	p.S127F	TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000269305.4_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGGCAGGGGAGTACTGTAG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	10					0	0	0	0	A	7578550	G	A	7578550	3	1	312	1	0	0	0	0	1	0	0	0	16476	1174	41	2	918	2	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-CV-7421-01A-11D-2078-08	1	7578550	73616660	61	55708	451	2									
RARA	5914	broad.mit.edu	37	chr17	38508322	38508322	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggcaaatacactacGgtatggctttcccccggcct	8	9	10	14	2	0	0	0	0	0	0	1	0	1	0	3	4	3	4	3	4	4	4			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:38508322G>A	ENST00000254066.5	+	5	1085	c.630_splice	c.e5+1	p.T210_splice	RARA_ENST00000394081.3_Splice_Site_p.T205_splice|RARA_ENST00000425707.3_Splice_Site_p.T113_splice|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394086.3_Splice_Site_p.T226_splice|RARA_ENST00000394089.2_Splice_Site_p.T210_splice	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	210	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AATACACTACGGTATGGCTTT	0.632			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL								4	4					0	0	0	0	A	38508322	G	A	38508322	5	1	312	1	0	0	0	0	0	0	1	0	13134	1130	39	1	811	1	RARA	17	38508322	Splice_Site	SNP	G	TCGA-CV-7421-01A-11D-2078-08	30929772	38508322	42686888	62	55709											
EPX	8288	broad.mit.edu	37	chr17	56280505	56280505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatttggcacagcttagccGggtgctgaaaaaccaggact	12	8	12	9	1	0	1	0	1	0	0	0	3	0	2	2	3	4	3	2	3	4	2	rs149971221	byFrequency	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:56280505G>A	ENST00000225371.5	+	11	1882	c.1772G>A	c.(1771-1773)cGg>cAg	p.R591Q		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	591					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CAGCTTAGCCGGGTGCTGAAA	0.542													49	50					0	0	0	0	A	56280505	G	A	56280505	3	1	312	1	0	0	0	0	1	0	0	0	5238	1116	39	1	1814	1	EPX	17	56280505	Missense_Mutation	SNP	G	TCGA-CV-7421-01A-11D-2078-08	17772183	56280505	24914705	63	55710											
ABCA9	10350	broad.mit.edu	37	chr17	67020425	67020425	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactttgtgctgtcaatttGgcatcagagatgtgctgctt	7	16	10	8	0	3	1	3	0	0	1	3	2	3	1	0	1	3	4	0	1	1	3			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:67020425G>T	ENST00000340001.4	-	17	2422	c.2211C>A	c.(2209-2211)gcC>gcA	p.A737A	ABCA9_ENST00000370732.2_Silent_p.A737A|ABCA9_ENST00000453985.2_Silent_p.A737A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	737					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTGTCAATTTGGCATCAGAGA	0.323													6	15					0.00116845	0.0025528	1	0	T	67020425	G	T	67020425	2	4	312	1	0	0	0	0	0	0	0	1	39	1335	47	4		4	ABCA9	17	67020425	Silent	SNP	G	TCGA-CV-7421-01A-11D-2078-08	10739920	67020425	14174785	64	55711											
MC2R	4158	broad.mit.edu	37	chr18	13885087	13885087	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaccacagtgcggcgcAtggtcacgatgctgtggtac	8	7	13	13	3	1	0	1	0	0	0	1	1	1	0	2	3	3	4	2	3	1	1			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr18:13885087A>G	ENST00000327606.3	-	2	611	c.431T>C	c.(430-432)aTg>aCg	p.M144T		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	144					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGTGCGGCGCATGGTCACGAT	0.582													20	21					0	0	0	0	G	13885087	A	G	13885087	3	3	312	1	0	0	0	0	1	0	0	0	9433	217	8	5	466	5	MC2R	18	13885087	Missense_Mutation	SNP	A	TCGA-CV-7421-01A-11D-2078-08		13885087	64192161	65	55712											
TSHZ1	10194	broad.mit.edu	37	chr18	73000485	73000485	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacattccaatgtaagctCtgcaaccggacttttgcgag	10	11	8	12	2	1	0	0	0	1	0	3	2	3	1	3	1	4	3	3	1	3	4	rs147097201		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr18:73000485C>T	ENST00000322038.5	+	2	3572	c.2988C>T	c.(2986-2988)ctC>ctT	p.L996L	TSHZ1_ENST00000580243.1_Silent_p.L1041L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	1041						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AATGTAAGCTCTGCAACCGGA	0.527													20	39					0	0	0	0	T	73000485	C	T	73000485	2	4	312	1	0	0	0	0	0	0	0	1	16718	900	32	2		2	TSHZ1	18	73000485	Silent	SNP	C	TCGA-CV-7421-01A-11D-2078-08	59115398	73000485	5076763	66	55713											
ASNA1	439	broad.mit.edu	37	chr19	12856229	12856229	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtggcggagctgcctgaCgagttcttcgaggaggacaa	8	7	17	9	4	1	1	0	1	1	0	2	6	1	4	1	5	2	2	1	5	1	2			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr19:12856229C>T	ENST00000591090.1	+	4	450	c.348C>T	c.(346-348)gaC>gaT	p.D116D	ASNA1_ENST00000357332.3_Silent_p.D116D			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	116					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	AGCTGCCTGACGAGTTCTTCG	0.612													8	20					0	0	0	0	T	12856229	C	T	12856229	2	4	312	1	0	0	0	0	0	0	0	1	1051	535	19	1		1	ASNA1	19	12856229	Silent	SNP	C	TCGA-CV-7421-01A-11D-2078-08		12856229	46272754	67	55714											
NCAN	1463	broad.mit.edu	37	chr19	19338829	19338829	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccccatctgcccccctgggGagccctggagtcttcttggt	3	11	11	16	0	3	0	0	0	3	0	4	2	4	2	6	4	2	0	6	4	0	2			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr19:19338829G>C	ENST00000252575.5	+	8	2443	c.2400G>C	c.(2398-2400)ggG>ggC	p.G800G	NCAN_ENST00000538881.1_Silent_p.G251G	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	800					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCCCCCTGGGGAGCCCTGGAG	0.567													11	136					0	0	0	0	C	19338829	G	C	19338829	2	2	312	1	0	0	0	0	0	0	0	1	10274	1161	41	2		2	NCAN	19	19338829	Silent	SNP	G	TCGA-CV-7421-01A-11D-2078-08	6482600	19338829	39790154	68	55715											
PRKCG	5582	broad.mit.edu	37	chr19	54395868	54395868	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtcctttggcgtctcGgagctgctcaaggcgcccgt	4	10	13	14	4	2	0	1	0	1	0	4	1	3	1	3	3	2	2	3	3	1	1			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr19:54395868G>A	ENST00000263431.3	+	7	1074	c.792G>A	c.(790-792)tcG>tcA	p.S264S	PRKCG_ENST00000542049.1_Silent_p.S151S|PRKCG_ENST00000540413.1_Silent_p.S264S|PRKCG_ENST00000536044.1_Silent_p.S264S	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	264					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TTGGCGTCTCGGAGCTGCTCA	0.642													7	9					0	0	0	0	A	54395868	G	A	54395868	2	1	312	1	0	0	0	0	0	0	0	1	12592	1103	39	1		1	PRKCG	19	54395868	Silent	SNP	G	TCGA-CV-7421-01A-11D-2078-08	35057039	54395868	4733115	69	55716											
LRRN4	164312	broad.mit.edu	37	chr20	6031559	6031559	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaatgtccccctccagggtCgtcagccgaggcatcttcct	8	9	9	15	2	2	0	1	0	1	0	6	1	5	0	5	2	1	1	5	2	2	1	rs149005401	byFrequency	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:6031559C>T	ENST00000378858.4	-	3	950	c.726G>A	c.(724-726)acG>acA	p.T242T		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	242						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCTCCAGGGTCGTCAGCCGAG	0.552													10	21					0	0	0	0	T	6031559	C	T	6031559	2	4	312	1	0	0	0	0	0	0	0	1	9101	871	31	1		1	LRRN4	20	6031559	Silent	SNP	C	TCGA-CV-7421-01A-11D-2078-08		6031559	56993961	70	55717											
XRN2	22803	broad.mit.edu	37	chr20	21328869	21328869	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgcagacatgccatctgAttttgagaagggtacgaaac	13	10	10	8	1	1	3	0	2	1	2	1	5	1	3	1	1	4	2	1	1	3	4			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:21328869A>C	ENST00000377191.3	+	18	1846	c.1751A>C	c.(1750-1752)gAt>gCt	p.D584A	XRN2_ENST00000430571.2_Missense_Mutation_p.D508A|XRN2_ENST00000539513.1_Missense_Mutation_p.D530A	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	584				D -> E (in Ref. 1; AAD55138).	cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						ATGCCATCTGATTTTGAGAAG	0.348													5	49					0	0	0	0	C	21328869	A	C	21328869	3	2	312	1	0	0	0	0	1	0	0	0	17556	333	12	5	1821	5	XRN2	20	21328869	Missense_Mutation	SNP	A	TCGA-CV-7421-01A-11D-2078-08	15297310	21328869	41696651	71	55718											
HM13	81502	broad.mit.edu	37	chr20	30154066	30154066	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttttcctgtcctggtggcGctggccaagggagaagtgac	6	10	16	9	1	0	2	0	1	0	1	2	3	2	2	3	5	0	2	3	5	2	2			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:30154066G>A	ENST00000335574.5	+	11	1126	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	HM13_ENST00000340852.5_Silent_p.A334A|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000376127.3_Silent_p.A292A|HM13_ENST00000398174.3_Silent_p.A334A	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	334					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TCCTGGTGGCGCTGGCCAAGG	0.612													10	107					0	0	0	0	A	30154066	G	A	30154066	2	1	312	1	0	0	0	0	0	0	0	1	7267	1074	38	1		1	HM13	20	30154066	Silent	SNP	G	TCGA-CV-7421-01A-11D-2078-08	8825197	30154066	32871454	72	55719											
NDRG3	57446	broad.mit.edu	37	chr20	35312834	35312834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttaggtgggtaagaacaGgaggcagcatttcagccagc	12	7	13	9	0	1	1	1	0	0	1	1	2	1	2	2	4	4	3	2	4	3	3			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:35312834G>A	ENST00000373803.2	-	6	421	c.365C>T	c.(364-366)cCt>cTt	p.P122L	NDRG3_ENST00000349004.1_Missense_Mutation_p.P122L|NDRG3_ENST00000540765.1_Missense_Mutation_p.P18L|NDRG3_ENST00000373773.3_Missense_Mutation_p.P27L|NDRG3_ENST00000359675.2_Missense_Mutation_p.P110L			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	122				P -> S (in Ref. 2; AAK34944).	cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				GGTAAGAACAGGAGGCAGCAT	0.418													7	38					0	0	0	0	A	35312834	G	A	35312834	3	1	312	1	0	0	0	0	1	0	0	0	10323	1000	35	4	806	4	NDRG3	20	35312834	Missense_Mutation	SNP	G	TCGA-CV-7421-01A-11D-2078-08	5158768	35312834	27712686	73	55720											
CYYR1	116159	broad.mit.edu	37	chr21	27840862	27840862	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggagggggtggagaacgCtgtgctggaccctgtggggt	7	8	20	6	1	0	1	0	0	0	1	0	4	0	3	1	7	2	2	1	7	2	1			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:27840862C>T	ENST00000299340.4	-	4	766	c.423G>A	c.(421-423)caG>caA	p.Q141Q	CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000414486.1_RNA|AP001596.6_ENST00000421771.1_RNA|AP001596.6_ENST00000444306.1_RNA|AP001596.6_ENST00000429340.1_RNA|AP001597.1_ENST00000357401.3_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	141						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GTGGAGAACGCTGTGCTGGAC	0.532													5	41					0	0	0	0	T	27840862	C	T	27840862	2	4	312	1	0	0	0	0	0	0	0	1	4243	796	28	4		4	CYYR1	21	27840862	Silent	SNP	C	TCGA-CV-7421-01A-11D-2078-08		27840862	20289033	74	55721											
RWDD2B	10069	broad.mit.edu	37	chr21	30380219	30380219	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttgcatttgttatagatAtgatggctgtagatccagag	10	16	10	5	0	0	4	0	1	0	3	1	4	1	4	1	1	1	4	1	1	4	7			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:30380219A>T	ENST00000493196.1	-	4	688	c.588T>A	c.(586-588)caT>caA	p.H196Q	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	196										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TGTTATAGATATGATGGCTGT	0.458													7	59					0	0	0	0	T	30380219	A	T	30380219	3	4	312	1	0	0	0	0	1	0	0	0	13841	446	16	5	379	5	RWDD2B	21	30380219	Missense_Mutation	SNP	A	TCGA-CV-7421-01A-11D-2078-08	2539357	30380219	17749676	75	55722											
SON	6651	broad.mit.edu	37	chr21	34923613	34923613	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acggtagcacaggagctgccTactacattagtgggggagac	11	7	14	9	1	0	1	0	0	0	1	0	3	0	2	1	4	5	3	1	4	4	4			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:34923613T>A	ENST00000356577.4	+	3	2551	c.2076T>A	c.(2074-2076)ccT>ccA	p.P692P	SON_ENST00000381679.4_Silent_p.P692P|SON_ENST00000290239.6_Silent_p.P692P|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.P692P	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	692					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGGAGCTGCCTACTACATTAG	0.512													16	56					0	0	0	0	A	34923613	T	A	34923613	2	1	312	1	0	0	0	0	0	0	0	1	15014	1509	53	5		5	SON	21	34923613	Silent	SNP	T	TCGA-CV-7421-01A-11D-2078-08	4543394	34923613	13206282	76	55723											
MCM3AP	8888	broad.mit.edu	37	chr21	47704324	47704324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgatcctggtcctccttccTtttcagtcctttcattaggc	4	16	7	14	1	2	0	2	0	0	0	7	1	7	0	5	2	0	0	5	2	1	5			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:47704324T>C	ENST00000397708.1	-	2	1131	c.877A>G	c.(877-879)Agg>Ggg	p.R293G	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R293G			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	293					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCCTCCTTCCTTTTCAGTCCT	0.572													31	64					0	0	0	0	C	47704324	T	C	47704324	3	2	312	1	0	0	0	0	1	0	0	0	9457	1608	56	5	5177	5	MCM3AP	21	47704324	Missense_Mutation	SNP	T	TCGA-CV-7421-01A-11D-2078-08	12780711	47704324	425571	77	55724											
HIRA	7290	broad.mit.edu	37	chr22	19393354	19393354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacaccgccactgctccaCattggcaagcttaccactgg	10	7	8	16	1	0	0	0	0	0	0	1	1	1	0	4	2	3	3	4	2	2	2			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr22:19393354C>T	ENST00000263208.5	-	5	608	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	HIRA_ENST00000340170.4_Missense_Mutation_p.V118M|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000541063.1_Missense_Mutation_p.V74M|HIRA_ENST00000546308.1_Missense_Mutation_p.V74M	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	118					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CACTGCTCCACATTGGCAAGC	0.602													5	32					0	0	0	0	T	19393354	C	T	19393354	3	4	312	1	0	0	0	0	1	0	0	0	7170	478	17	4	2785	4	HIRA	22	19393354	Missense_Mutation	SNP	C	TCGA-CV-7421-01A-11D-2078-08		19393354	31911212	78	55725											
MAP7D2	256714	broad.mit.edu	37	chrX	20043130	20043130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttctgcagccgggcctGtcttctcttttcagccaaga	5	14	8	14	1	4	1	1	0	3	1	6	1	5	1	4	1	3	1	4	1	1	5			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:20043130G>T	ENST00000379651.3	-	9	1246	c.1228C>A	c.(1228-1230)Cag>Aag	p.Q410K	MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q295K|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q358K|MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q365K|MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q451K	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	410										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						AGCCGGGCCTGTCTTCTCTTT	0.527													56	44					3.40343e-31	8.14391e-31	1	0	T	20043130	G	T	20043130	3	4	312	1	0	0	0	0	1	0	0	0	9337	1386	48	4	998	4	MAP7D2	23	20043130	Missense_Mutation	SNP	G	TCGA-CV-7421-01A-11D-2078-08		20043130	135227430	79	55726											
BCOR	54880	broad.mit.edu	37	chrX	39937101	39937101	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgggcgcattcacctgtCttcgctcgccccacacatgc	7	9	9	16	3	2	1	1	0	1	1	4	1	2	1	3	1	1	2	3	1	0	2			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:39937101C>G	ENST00000342274.4	-	2	444	c.82G>C	c.(82-84)Gac>Cac	p.D28H	BCOR_ENST00000378444.4_Missense_Mutation_p.D28H|BCOR_ENST00000397354.3_Missense_Mutation_p.D28H|BCOR_ENST00000378455.4_Missense_Mutation_p.D28H	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	28					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ATTCACCTGTCTTCGCTCGCC	0.627			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						18	9					0	0	0	0	G	39937101	C	G	39937101	3	3	312	1	0	0	0	0	1	0	0	0	1390	913	32	2	5241	2	BCOR	23	39937101	Missense_Mutation	SNP	C	TCGA-CV-7421-01A-11D-2078-08	19893971	39937101	115333459	80	55727											
AR	367	broad.mit.edu	37	chrX	66765243	66765245	+	In_Frame_Del	DEL	GCA	GCA	-																															cagcaagagactagccccagGcagcagcagcagcagcaggg																										TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:66765243_66765245delGCA	ENST00000374690.3	+	1	779_781	c.255_257delGCA	c.(253-258)agg>ag	p.RQ85del	AR_ENST00000396044.3_In_Frame_Del_p.RQ85del|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_In_Frame_Del_p.RQ85del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	83	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ctagccccaggcagcagcagcag	0.631									Androgen Insensitivity Syndrome				3	5	---	---	---	---					-	66765245	GCA	-	66765243	7	5	312	1	0	1	0	1	0	0	0	0	838	1194	42	0	257	0	AR	23	66765243	In_Frame_Del	DEL	GCA	TCGA-CV-7421-01A-11D-2078-08	26828142	66765243	88505317	81	55728											
TMEM187	8269	broad.mit.edu	37	chrX	153247560	153247560	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtgcacgtggccgtggccgGtggcctctgtgccgtggctg	1	9	18	13	5	1	0	0	0	1	0	1	0	1	0	4	5	2	2	4	5	0	0			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:153247560G>C	ENST00000369982.4	+	2	794	c.47G>C	c.(46-48)gGt>gCt	p.G16A		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	16						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGTGGCCGGTGGCCTCTGT	0.647													14	10					0	0	0	0	C	153247560	G	C	153247560	3	2	312	1	0	0	0	0	1	0	0	0	16203	1261	44	4	49	4	TMEM187	23	153247560	Missense_Mutation	SNP	G	TCGA-CV-7421-01A-11D-2078-08	86482317	153247560	2023000	82	55729											
RPL10	6134	broad.mit.edu	37	chrX	153628946	153628946	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccctgcgcagggccaagttCaagtttcctggccgccagaa	8	7	12	14	2	1	1	1	0	0	1	2	1	2	1	5	2	1	3	5	2	3	2			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:153628946C>G	ENST00000424325.2	+	6	659	c.471C>G	c.(469-471)ttC>ttG	p.F157L	RPL10_ENST00000369817.2_Missense_Mutation_p.F157L|RPL10_ENST00000406022.2_Missense_Mutation_p.F106L	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	157				F -> L (in Ref. 8; BAD97029).	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCCAAGTTCAAGTTTCCTG	0.562													3	35					0	0	0	0	G	153628946	C	G	153628946	3	3	312	1	0	0	0	0	1	0	0	0	13639	825	29	2	489	2	RPL10	23	153628946	Missense_Mutation	SNP	C	TCGA-CV-7421-01A-11D-2078-08	381386	153628946	1641614	83	55730											
ACAP3	116983	broad.mit.edu	37	chr1	1236026	1236026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacagctccaggtcctcccGcaccttgtcaaactgcttct	7	10	8	16	1	2	0	1	0	1	0	5	1	5	1	4	2	3	3	4	2	1	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:1236026G>A	ENST00000354700.5	-	6	587	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	ACAP3_ENST00000353662.3_Missense_Mutation_p.R87W	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	129					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGGTCCTCCCGCACCTTGTCA	0.647													11	45					0	0	0	0	A	1236026	G	A	1236026	3	1	313	1	0	0	0	0	1	0	0	0	120	1086	38	1	2195	1	ACAP3	1	1236026	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08		1236026	248014595	1	55731											
UBE4B	10277	broad.mit.edu	37	chr1	10132157	10132157	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accaccccactcacctctccCcagagggagaaccctccggg	9	4	8	20	1	2	2	1	0	1	2	4	3	3	2	8	2	1	0	8	2	1	0			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:10132157C>A	ENST00000343090.6	+	2	171	c.96C>A	c.(94-96)ccC>ccA	p.P32P	UBE4B_ENST00000253251.8_Silent_p.P32P|UBE4B_ENST00000377157.3_5'UTR|UBE4B_ENST00000377153.1_Silent_p.P32P	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	32					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCACCTCTCCCCAGAGGGAGA	0.597													17	47					1.33834e-09	1.58096e-09	1	0	A	10132157	C	A	10132157	2	1	313	1	0	0	0	0	0	0	0	1	16979	610	22	4		4	UBE4B	1	10132157	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08	8896131	10132157	239118464	2	55732											
ARID1A	8289	broad.mit.edu	37	chr1	27106228	27106228	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttggcattagcccagcaCagagccaccggaacatcaag	13	6	9	13	1	1	1	1	0	0	1	1	2	1	2	3	2	4	2	3	2	3	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:27106228C>T	ENST00000324856.7	+	20	6210	c.5839C>T	c.(5839-5841)Cag>Tag	p.Q1947*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1730*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1564*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q275*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1947					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TAGCCCAGCACAGAGCCACCG	0.532			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								18	73					0	0	0	0	T	27106228	C	T	27106228	4	4	313	1	0	0	0	0	0	1	0	0	915	479	17	4	5917	4	ARID1A	1	27106228	Nonsense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	16974071	27106228	222144393	3	55733											
EPHA10	284656	broad.mit.edu	37	chr1	38227731	38227731	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggatgggacggtcgtgttCatccacgccgctgatctcct	5	10	13	13	5	2	1	1	1	1	0	5	3	3	3	3	3	0	2	3	3	0	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:38227731C>G	ENST00000373048.4	-	3	195	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	EPHA10_ENST00000427468.2_Missense_Mutation_p.E66Q|EPHA10_ENST00000319637.6_Missense_Mutation_p.E66Q	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	66						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)				CGGTCGTGTTCATCCACGCCG	0.617													8	56					0	0	0	0	G	38227731	C	G	38227731	3	3	313	1	0	0	0	0	1	0	0	0	5204	835	29	2	2928	2	EPHA10	1	38227731	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	11121503	38227731	211022890	4	55734											
MACF1	23499	broad.mit.edu	37	chr1	39854051	39854051	+	Silent	SNP	T	T	A																															aaattagacatagaggcctcTgaagcagagtgtcgacatat																										TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:39854051T>A	ENST00000564288.1	+	58	16314	c.15537T>A	c.(15535-15537)tcT>tcA	p.S5179S	MACF1_ENST00000361689.2_Silent_p.S3117S|MACF1_ENST00000567887.1_Silent_p.S5216S|MACF1_ENST00000317713.7_Silent_p.S3117S|MACF1_ENST00000539005.1_Silent_p.S3096S|MACF1_ENST00000372915.3_Silent_p.S5184S|MACF1_ENST00000289893.4_Silent_p.S3619S|MACF1_ENST00000545844.1_Silent_p.S3117S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5184					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAGAGGCCTCTGAAGCAGAGT	0.468													5	40					0	0	0	0	A	39854051	T	A	39854051	2	1	313	1	0	0	0	0	0	0	0	1	9209	1567	55	5		5	MACF1	1	39854051	Silent	SNP	T	TCGA-CV-7422-01A-21D-2078-08	1626320	39854051	209396570	5	55735	452	2									
MACF1	23499	broad.mit.edu	37	chr1	39854052	39854052	+	Nonsense_Mutation	SNP	G	G	T																															aattagacatagaggcctctGaagcagagtgtcgacatatg																										TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:39854052G>T	ENST00000564288.1	+	58	16315	c.15538G>T	c.(15538-15540)Gaa>Taa	p.E5180*	MACF1_ENST00000361689.2_Nonsense_Mutation_p.E3118*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E5217*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.E3118*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.E3097*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.E5185*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E3620*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.E3118*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5185					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGGCCTCTGAAGCAGAGTG	0.468													5	40					1.23904e-05	1.39048e-05	1	0	T	39854052	G	T	39854052	4	4	313	1	0	0	0	0	0	1	0	0	9209	1291	45	2	15713	2	MACF1	1	39854052	Nonsense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	1	39854052	209396569	6	55736	452	2									
C8B	732	broad.mit.edu	37	chr1	57415426	57415426	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcgtatttgccttgggtCtaaagaagaaaaaagaaagg	17	10	10	4	1	1	3	0	0	1	3	2	3	1	3	1	2	1	1	1	2	9	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:57415426C>A	ENST00000543257.1	-	7	1077		c.e7-1		C8B_ENST00000371237.4_Splice_Site|C8B_ENST00000535057.1_Splice_Site	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide						complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGCCTTGGGTCTAAAGAAGAA	0.368													8	26					6.5536e-12	7.92711e-12	1	0	A	57415426	C	A	57415426	5	1	313	1	0	0	0	0	0	0	1	0	2440	927	32	2	1137	2	C8B	1	57415426	Splice_Site	SNP	C	TCGA-CV-7422-01A-21D-2078-08	17561374	57415426	191835195	7	55737											
ZNF644	84146	broad.mit.edu	37	chr1	91406244	91406244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaccatcctcacccacctCtacttgatttattaaagtgc	10	14	3	14	0	3	1	2	1	1	0	4	1	4	1	4	0	2	0	4	0	4	6			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:91406244C>G	ENST00000370440.1	-	3	884	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.E223Q|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCACCCACCTCTACTTGATTT	0.373													35	171					0	0	0	0	G	91406244	C	G	91406244	3	3	313	1	0	0	0	0	1	0	0	0	18155	922	32	2	3332	2	ZNF644	1	91406244	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	33990818	91406244	157844377	8	55738											
VCAM1	7412	broad.mit.edu	37	chr1	101186049	101186049	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagctcaagcttttaaaatcGagaccaccccagaatctaga	15	8	6	12	1	2	3	1	0	1	3	3	4	2	3	3	0	2	2	3	0	5	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:101186049G>C	ENST00000294728.2	+	2	183	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	VCAM1_ENST00000347652.2_Missense_Mutation_p.E28Q|VCAM1_ENST00000370119.4_Missense_Mutation_p.E28Q|VCAM1_ENST00000370115.1_Missense_Mutation_p.E28Q	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	28	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.E28*(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTTTAAAATCGAGACCACCCC	0.413													8	111					0	0	0	0	C	101186049	G	C	101186049	3	2	313	1	0	0	0	0	1	0	0	0	17233	1059	37	3	88	3	VCAM1	1	101186049	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	9779805	101186049	148064572	9	55739											
FLG2	388698	broad.mit.edu	37	chr1	152327955	152327955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaactgtgttggccataGctagactgacctgatctaga	11	10	10	10	0	1	5	0	2	1	3	1	5	1	5	3	1	2	2	3	1	4	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517													23	411					0	0	0	0	A	152327955	G	A	152327955	2	1	313	1	0	0	0	0	0	0	0	1	5968	962	34	4		4	FLG2	1	152327955	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08	51141906	152327955	96922666	10	55740											
UBE2Q1	55585	broad.mit.edu	37	chr1	154523418	154523418	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggctccagcctcaccgttTttttcgtggatctgcaccaa	6	13	8	14	2	2	0	1	0	1	0	4	1	3	1	4	2	2	3	4	2	1	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:154523418T>C	ENST00000292211.4	-	12	1312	c.1233A>G	c.(1231-1233)aaA>aaG	p.K411K		NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	411							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCACCGTTTTTTTCGTGGA	0.532													49	129					0	0	0	0	C	154523418	T	C	154523418	2	2	313	1	0	0	0	0	0	0	0	1	16965	1838	64	5		5	UBE2Q1	1	154523418	Silent	SNP	T	TCGA-CV-7422-01A-21D-2078-08	2195463	154523418	94727203	11	55741											
SHC1	6464	broad.mit.edu	37	chr1	154938440	154938440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcatgtcaaacaggtcccGgggtgcactgccattgatag	10	9	11	11	1	2	1	2	1	0	0	3	1	3	1	2	3	3	1	2	3	2	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:154938440G>A	ENST00000448116.2	-	10	1589	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	SHC1_ENST00000368453.4_Missense_Mutation_p.R347W|SHC1_ENST00000368445.5_Missense_Mutation_p.R456W|SHC1_ENST00000368450.1_Missense_Mutation_p.R346W|SHC1_ENST00000368449.4_Missense_Mutation_p.R227W|SHC1_ENST00000606391.1_Missense_Mutation_p.R257W	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	456	CH1.|Pro-rich.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.R347W(1)|p.R457W(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACAGGTCCCGGGGTGCACTG	0.562													26	91					0	0	0	0	A	154938440	G	A	154938440	3	1	313	1	0	0	0	0	1	0	0	0	14358	1115	39	1	397	1	SHC1	1	154938440	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	415022	154938440	94312181	12	55742											
OR6N1	128372	broad.mit.edu	37	chr1	158735880	158735880	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaatttataacaaaatctActaggacatttatagacgta	18	12	6	5	1	1	1	0	0	1	1	1	3	1	3	0	2	2	1	0	2	10	9			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:158735880A>G	ENST00000335094.2	-	1	612	c.593T>C	c.(592-594)gTa>gCa	p.V198A		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AACAAAATCTACTAGGACATT	0.483													10	90					0	0	0	0	G	158735880	A	G	158735880	3	3	313	1	0	0	0	0	1	0	0	0	11277	391	14	5	348	5	OR6N1	1	158735880	Missense_Mutation	SNP	A	TCGA-CV-7422-01A-21D-2078-08	3797440	158735880	90514741	13	55743											
CCDC19	25790	broad.mit.edu	37	chr1	159842833	159842833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcaaaggtggcaatcCggttctgcacttccttctgc	6	12	8	15	1	3	0	1	0	2	0	6	0	6	0	4	3	2	3	4	3	2	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:159842833C>T	ENST00000426543.2	-	11	1678	c.1223G>A	c.(1222-1224)cGg>cAg	p.R408Q	CCDC19_ENST00000368099.4_Missense_Mutation_p.R493Q|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	493						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GGTGGCAATCCGGTTCTGCAC	0.597													6	77					0	0	0	0	T	159842833	C	T	159842833	3	4	313	1	0	0	0	0	1	0	0	0	2821	652	23	1	185	1	CCDC19	1	159842833	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	1106953	159842833	89407788	14	55744											
PLA2G4A	5321	broad.mit.edu	37	chr1	186909195	186909195	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttcacctgtcttcatgtCaaacctgacgtttcagagct	8	15	6	12	1	5	2	4	1	1	1	5	2	5	2	2	0	2	2	2	0	1	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:186909195C>T	ENST00000367466.3	+	10	1154	c.1002C>T	c.(1000-1002)gtC>gtT	p.V334V	PLA2G4A_ENST00000442353.2_Silent_p.V274V	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	334	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GTCTTCATGTCAAACCTGACG	0.418													5	87					0	0	0	0	T	186909195	C	T	186909195	2	4	313	1	0	0	0	0	0	0	0	1	12073	813	29	2		2	PLA2G4A	1	186909195	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08	27066362	186909195	62341426	15	55745											
SLC30A10	55532	broad.mit.edu	37	chr1	220088985	220088985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagccattgacgtgagccaGaggcagtgccccggggggac	9	4	16	12	2	0	3	0	2	0	1	0	4	0	4	4	4	3	1	4	4	0	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:220088985G>C	ENST00000366926.3	-	4	1425	c.1264C>G	c.(1264-1266)Ctg>Gtg	p.L422V	SLC30A10_ENST00000536446.1_Missense_Mutation_p.L177V|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	422					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		ACGTGAGCCAGAGGCAGTGCC	0.567													31	61					0	0	0	0	C	220088985	G	C	220088985	3	2	313	1	0	0	0	0	1	0	0	0	14642	933	33	2	197	2	SLC30A10	1	220088985	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	33179790	220088985	29161636	16	55746											
HNRNPU	3192	broad.mit.edu	37	chr1	245019248	245019248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcatattgaatcctccacGtcctctatggccaccacctc	9	10	5	17	2	1	1	0	1	1	0	5	1	4	1	6	1	0	1	6	1	3	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:245019248G>A	ENST00000444376.2	-	11	2302	c.2068C>T	c.(2068-2070)Cgt>Tgt	p.R690C	HNRNPU_ENST00000283179.9_Missense_Mutation_p.R709C	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	709					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			AATCCTCCACGTCCTCTATGG	0.403													12	206					0	0	0	0	A	245019248	G	A	245019248	3	1	313	1	0	0	0	0	1	0	0	0	7323	1145	40	1	368	1	HNRNPU	1	245019248	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	24930263	245019248	4231373	17	55747											
APOB	338	broad.mit.edu	37	chr2	21233595	21233595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacaattgtaaattcttgggGcttctcaacggcatctctca	11	13	7	10	1	4	0	2	0	3	0	6	0	4	0	0	3	2	3	0	3	5	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:21233595G>A	ENST00000233242.1	-	26	6272	c.6145C>T	c.(6145-6147)Ccc>Tcc	p.P2049S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2049	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATTCTTGGGGCTTCTCAACG	0.373													11	133					0	0	0	0	A	21233595	G	A	21233595	3	1	313	1	0	0	0	0	1	0	0	0	787	1203	42	4	7562	4	APOB	2	21233595	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08		21233595	221965778	18	55748											
TMEM131	23505	broad.mit.edu	37	chr2	98411468	98411468	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcttctgcacaggttgctAacatatggtaaggaagggat	11	10	14	6	0	1	0	0	0	1	0	1	2	1	2	0	5	3	5	0	5	4	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:98411468A>C	ENST00000186436.5	-	29	3539	c.3311T>G	c.(3310-3312)tTa>tGa	p.L1104*		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1104						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACAGGTTGCTAACATATGGTA	0.403													11	22					0	0	0	0	C	98411468	A	C	98411468	4	2	313	1	0	0	0	0	0	1	0	0	16138	372	13	5	2392	5	TMEM131	2	98411468	Nonsense_Mutation	SNP	A	TCGA-CV-7422-01A-21D-2078-08	77177873	98411468	144787905	19	55749											
CCDC138	165055	broad.mit.edu	37	chr2	109463283	109463283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcaggataattctccacaGcattctgtggagaataaacc	14	11	7	9	0	3	1	1	0	2	1	4	3	3	2	2	2	2	1	2	2	4	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:109463283G>A	ENST00000295124.4	+	12	1473	c.1413G>A	c.(1411-1413)caG>caA	p.Q471Q	CCDC138_ENST00000412964.2_Silent_p.Q471Q	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	471										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						ATTCTCCACAGCATTCTGTGG	0.363													4	69					0	0	0	0	A	109463283	G	A	109463283	2	1	313	1	0	0	0	0	0	0	0	1	2797	962	34	4		4	CCDC138	2	109463283	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08	11051815	109463283	133736090	20	55750											
TTN	7273	broad.mit.edu	37	chr2	179592514	179592514	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaaatggtggtgttcctttTagtattgccttaaattccac	9	18	7	7	0	0	0	0	0	0	0	2	0	2	0	3	2	1	2	3	2	6	8			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:179592514T>C	ENST00000589042.1	-	68	20015	c.19791A>G	c.(19789-19791)ctA>ctG	p.L6597L	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.L6280L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.L5353L|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6280	Ig-like 47.						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)			GTGTTCCTTTTAGTATTGCCT	0.393													16	157					0	0	0	0	C	179592514	T	C	179592514	2	2	313	1	0	0	0	0	0	0	0	1	16831	1741	61	5		5	TTN	2	179592514	Silent	SNP	T	TCGA-CV-7422-01A-21D-2078-08	70129231	179592514	63606859	21	55751											
TTLL4	9654	broad.mit.edu	37	chr2	219610493	219610493	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacattgtcaagcagacCattggacggtcccacttcaa	12	8	7	14	1	2	1	2	0	0	1	3	2	3	2	3	2	2	1	3	2	3	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:219610493C>T	ENST00000392102.1	+	7	2206	c.1866C>T	c.(1864-1866)acC>acT	p.T622T	TTLL4_ENST00000258398.4_Silent_p.T622T|TTLL4_ENST00000457313.1_Silent_p.T457T|TTLL4_ENST00000442769.1_Silent_p.T622T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	622	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TCAAGCAGACCATTGGACGGT	0.512													4	24					0	0	0	0	T	219610493	C	T	219610493	2	4	313	1	0	0	0	0	0	0	0	1	16825	581	21	4		4	TTLL4	2	219610493	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08	40017979	219610493	23588880	22	55752											
FGD5	152273	broad.mit.edu	37	chr3	14965561	14965561	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcttcaccccgcttctcGggcagtgccttttcatccgt	3	14	8	16	3	4	0	2	0	2	0	6	0	5	0	4	1	1	2	4	1	0	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:14965561G>A	ENST00000285046.5	+	17	4094	c.3984G>A	c.(3982-3984)tcG>tcA	p.S1328S	FGD5_ENST00000543601.1_Silent_p.S1087S|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1328					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCCGCTTCTCGGGCAGTGCCT	0.572													8	53					0	0	0	0	A	14965561	G	A	14965561	2	1	313	1	0	0	0	0	0	0	0	1	5881	1103	39	1		1	FGD5	3	14965561	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08		14965561	183056869	23	55753											
TRIM71	131405	broad.mit.edu	37	chr3	32931948	32931948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagagcaccatcagtgccGtgcagcaggtcctggaggag	9	7	15	10	1	1	1	1	1	0	1	2	4	2	3	3	3	4	3	3	3	0	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:32931948G>A	ENST00000383763.4	+	4	1315	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	418					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATCAGTGCCGTGCAGCAGGT	0.597													5	62					0	0	0	0	A	32931948	G	A	32931948	3	1	313	1	0	0	0	0	1	0	0	0	16639	1145	40	1	1266	1	TRIM71	3	32931948	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	17966387	32931948	165090482	24	55754											
SCN10A	6336	broad.mit.edu	37	chr3	38739930	38739930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagggcaaagagcagtgtgCggatccccttggccgctcgg	7	7	16	11	3	0	2	0	1	0	1	2	3	1	3	3	4	2	3	3	4	1	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:38739930C>T	ENST00000449082.2	-	27	4780	c.4781G>A	c.(4780-4782)cGc>cAc	p.R1594H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1594					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GAGCAGTGTGCGGATCCCCTT	0.537													8	90					0	0	0	0	T	38739930	C	T	38739930	3	4	313	1	0	0	0	0	1	0	0	0	13999	768	27	1	1093	1	SCN10A	3	38739930	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	5807982	38739930	159282500	25	55755											
HTR1F	3355	broad.mit.edu	37	chr3	88040986	88040986	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcattccaaaagcttgtgCgatgtcgatgttagttttaa	12	14	9	6	2	0	0	0	0	0	0	2	2	1	0	1	0	3	4	1	0	5	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:88040986C>T	ENST00000319595.4	+	1	1141	c.1087C>T	c.(1087-1089)Cga>Tga	p.R363*		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	363					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AAAGCTTGTGCGATGTCGATG	0.338													13	53					0	0	0	0	T	88040986	C	T	88040986	4	4	313	1	0	0	0	0	0	1	0	0	7493	760	27	1	1089	1	HTR1F	3	88040986	Nonsense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	49301056	88040986	109981444	26	55756											
IMPG2	50939	broad.mit.edu	37	chr3	100962722	100962722	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagattgtggttggaggcAatttggtagactgtgtcaca	9	13	15	4	0	1	2	1	0	0	2	1	4	1	3	0	5	0	3	0	5	2	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:100962722A>G	ENST00000193391.7	-	13	2640	c.2453T>C	c.(2452-2454)tTg>tCg	p.L818S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	818					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGTTGGAGGCAATTTGGTAGA	0.448													12	92					0	0	0	0	G	100962722	A	G	100962722	3	3	313	1	0	0	0	0	1	0	0	0	7782	131	5	5	1300	5	IMPG2	3	100962722	Missense_Mutation	SNP	A	TCGA-CV-7422-01A-21D-2078-08	12921736	100962722	97059708	27	55757											
MYH15	22989	broad.mit.edu	37	chr3	108195321	108195321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcaagcactttaccaactCagaggagttaatgcccatga	14	9	8	10	0	2	2	2	1	0	1	2	4	2	3	2	1	4	2	2	1	4	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:108195321C>T	ENST00000273353.3	-	13	1272	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	406	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTTACCAACTCAGAGGAGTTA	0.393													6	29					0	0	0	0	T	108195321	C	T	108195321	3	4	313	1	0	0	0	0	1	0	0	0	10104	835	29	2	4744	2	MYH15	3	108195321	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	7232599	108195321	89827109	28	55758											
CASR	846	broad.mit.edu	37	chr3	121980531	121980531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacaattgcagctgatgacGactatgggcggccggggatt	9	8	15	9	3	0	2	0	2	0	0	0	4	0	3	1	4	2	3	1	4	2	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:121980531G>A	ENST00000498619.1	+	4	1087	c.649G>A	c.(649-651)Gac>Aac	p.D217N	CASR_ENST00000296154.5_Missense_Mutation_p.D217N|CASR_ENST00000490131.1_Missense_Mutation_p.D217N	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	217					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGCTGATGACGACTATGGGCG	0.537													10	127					0	0	0	0	A	121980531	G	A	121980531	3	1	313	1	0	0	0	0	1	0	0	0	2707	1058	37	1	659	1	CASR	3	121980531	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	13785210	121980531	76041899	29	55759											
OSBPL11	114885	broad.mit.edu	37	chr3	125282600	125282600	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggactgccaccggcttaCtctgatcagttgcaaagggc	8	9	12	12	1	2	1	1	1	1	0	2	2	2	2	2	3	3	3	2	3	2	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:125282600C>G	ENST00000296220.5	-	7	1245	c.956G>C	c.(955-957)aGt>aCt	p.S319T		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	319					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CACCGGCTTACTCTGATCAGT	0.413													13	67					0	0	0	0	G	125282600	C	G	125282600	3	3	313	1	0	0	0	0	1	0	0	0	11347	565	20	4	1315	4	OSBPL11	3	125282600	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	3302069	125282600	72739830	30	55760											
TOPBP1	11073	broad.mit.edu	37	chr3	133358856	133358856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcgtctgctctctttcccGttctagcagtctccaacagc	5	15	6	15	2	4	0	0	0	4	0	8	0	5	0	2	0	4	3	2	0	2	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:133358856G>A	ENST00000260810.5	-	13	2311	c.2180C>T	c.(2179-2181)aCg>aTg	p.T727M		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	727	BRCT 5.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCTCTTTCCCGTTCTAGCAGT	0.363								Other conserved DNA damage response genes					10	42					0	0	0	0	A	133358856	G	A	133358856	3	1	313	1	0	0	0	0	1	0	0	0	16464	1145	40	1	2452	1	TOPBP1	3	133358856	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	8076256	133358856	64663574	31	55761											
ATR	545	broad.mit.edu	37	chr3	142274981	142274981	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatctttgactttatcTctggggaaaaaaaagaaaaa	18	11	7	5	0	3	2	1	1	2	1	4	4	3	3	0	2	0	0	0	2	8	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:142274981T>C	ENST00000350721.4	-	10	2200	c.2078_splice	c.e10-1	p.I693_splice	ATR_ENST00000383101.3_Splice_Site_p.I629_splice	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	693					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGACTTTATCTCTGGGGAAAA	0.338								Other conserved DNA damage response genes					9	80					0	0	0	0	C	142274981	T	C	142274981	5	2	313	1	0	0	0	0	0	0	1	0	1208	1565	54	5	6007	5	ATR	3	142274981	Splice_Site	SNP	T	TCGA-CV-7422-01A-21D-2078-08	8916125	142274981	55747449	32	55762											
MME	4311	broad.mit.edu	37	chr3	154890356	154890356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctataggccagagtatgCggttaactccattaaaacag	15	9	8	9	1	0	1	0	0	0	1	1	1	1	1	3	2	4	2	3	2	7	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:154890356C>T	ENST00000460393.1	+	22	2228	c.2108C>T	c.(2107-2109)gCg>gTg	p.A703V	MME_ENST00000493237.1_Missense_Mutation_p.A703V|MME_ENST00000492661.1_Missense_Mutation_p.A703V|MME_ENST00000462745.1_Missense_Mutation_p.A703V|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.A703V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	703					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CCAGAGTATGCGGTTAACTCC	0.428													13	128					0	0	0	0	T	154890356	C	T	154890356	3	4	313	1	0	0	0	0	1	0	0	0	9714	768	27	1	2190	1	MME	3	154890356	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	12615375	154890356	43132074	33	55763											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			26	47					0	0	0	0	A	178936082	G	A	178936082	3	1	313	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	24045726	178936082	19086348	34	55764											
NOP14	8602	broad.mit.edu	37	chr4	2954030	2954030	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaggtgctcctgctctTcctttgccaattctgcctcc	3	15	7	16	0	2	1	0	1	2	0	6	1	6	1	6	1	4	2	6	1	1	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr4:2954030T>C	ENST00000416614.2	-	6	907	c.842A>G	c.(841-843)gAa>gGa	p.E281G	NOP14_ENST00000314262.6_Missense_Mutation_p.E281G|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.E281G|NOP14_ENST00000398071.4_Missense_Mutation_p.E281G			P78316	NOP14_HUMAN	NOP14 nucleolar protein	281					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTCCTGCTCTTCCTTTGCCAA	0.567													17	48					0	0	0	0	C	2954030	T	C	2954030	3	2	313	1	0	0	0	0	1	0	0	0	10606	1783	62	5	1783	5	NOP14	4	2954030	Missense_Mutation	SNP	T	TCGA-CV-7422-01A-21D-2078-08		2954030	188200246	35	55765											
PCDH7	5099	broad.mit.edu	37	chr4	30723146	30723146	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcggccgccaagcagctcctCcggtaccggctggccgagga	6	4	15	16	5	0	0	0	0	0	0	2	2	2	1	6	5	3	4	6	5	2	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr4:30723146C>G	ENST00000361762.2	+	1	1110	c.102C>G	c.(100-102)ctC>ctG	p.L34L	PCDH7_ENST00000543491.1_Silent_p.L34L	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	34	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGCAGCTCCTCCGGTACCGGC	0.711													8	13					0	0	0	0	G	30723146	C	G	30723146	2	3	313	1	0	0	0	0	0	0	0	1	11587	842	30	2		2	PCDH7	4	30723146	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08	27769116	30723146	160431130	36	55766											
GC	2638	broad.mit.edu	37	chr4	72620734	72620734	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgagtcttcaacatcacaGcattcaccaaggctttttag	11	13	7	10	0	4	1	3	1	1	0	4	1	4	1	1	1	2	3	1	1	3	6			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr4:72620734G>A	ENST00000273951.8	-	9	1468	c.1125C>T	c.(1123-1125)tgC>tgT	p.C375C	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.C375C|GC_ENST00000504199.1_Silent_p.C394C	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	375	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CAACATCACAGCATTCACCAA	0.378													11	48					0	0	0	0	A	72620734	G	A	72620734	2	1	313	1	0	0	0	0	0	0	0	1	6331	963	34	4		4	GC	4	72620734	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08	41897588	72620734	118533542	37	55767											
F11	2160	broad.mit.edu	37	chr4	187208888	187208888	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatacccttagtgaccaacGaagagtgccagaagagatac	16	6	10	9	1	0	5	0	1	0	4	0	7	0	5	3	0	4	0	3	0	6	3	rs142952627		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr4:187208888G>T	ENST00000264692.4	+	14	1804	c.1471G>T	c.(1471-1473)Gaa>Taa	p.E491*	F11_ENST00000403665.2_Nonsense_Mutation_p.E543*|RP11-215A19.1_ENST00000505103.1_RNA			P03951	FA11_HUMAN	coagulation factor XI	543	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGTGACCAACGAAGAGTGCCA	0.408													8	68					0.000157383	0.000173724	1	0	T	187208888	G	T	187208888	4	4	313	1	0	0	0	0	0	1	0	0	5375	1059	37	3	1677	3	F11	4	187208888	Nonsense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	114588154	187208888	3945388	38	55768											
FAT1	2195	broad.mit.edu	37	chr4	187540153	187540154	+	Frame_Shift_Ins	INS	-	-	T																															caaagtcatttacaatatggINStaagtaacgtgaccataaat																										TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr4:187540153_187540154insT	ENST00000441802.2	-	10	7795_7796	c.7586_7587insA	c.(7585-7587)tcafs	p.S2529fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2529	Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTACAATATGGTAAGTAACGTG	0.411										HNSCC(5;0.00058)			41	100	---	---	---	---					T	187540154	-	T	187540153	7	5	313	1	0	1	1	0	0	0	0	0	5734	1256	44	0	6251	0	FAT1	4	187540153	Frame_Shift_Ins	INS	-	TCGA-CV-7422-01A-21D-2078-08	331265	187540153	3614123	39	55769											
LRRC14B	389257	broad.mit.edu	37	chr5	195405	195405	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaatgagcttggtgctttCttgctgcaagctttcaaaac	10	13	9	9	0	2	1	1	1	1	0	2	1	2	1	0	1	7	6	0	1	4	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:195405C>T	ENST00000328278.3	+	2	1510	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	494										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TTGGTGCTTTCTTGCTGCAAG	0.473													17	46					0	0	0	0	T	195405	C	T	195405	2	4	313	1	0	0	0	0	0	0	0	1	9033	912	32	2		2	LRRC14B	5	195405	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08		195405	180719855	40	55770											
MAP1B	4131	broad.mit.edu	37	chr5	71494067	71494067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatttctcccctaaaactGcaaagtccaggacacccgtt	12	9	6	14	1	1	1	0	0	1	1	3	2	2	2	4	1	2	2	4	1	3	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:71494067G>T	ENST00000296755.7	+	5	5183	c.4885G>T	c.(4885-4887)Gca>Tca	p.A1629S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1629						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCCTAAAACTGCAAAGTCCAG	0.443													7	102					0.00307968	0.00324008	1	0	T	71494067	G	T	71494067	3	4	313	1	0	0	0	0	1	0	0	0	9297	1319	46	4	4903	4	MAP1B	5	71494067	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	71298662	71494067	109421193	41	55771											
IQGAP2	10788	broad.mit.edu	37	chr5	75906864	75906864	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagttgtagctgtagggtaCatcaatgaagctattgatga	12	12	13	4	0	1	3	1	3	0	0	1	4	1	4	0	2	3	6	0	2	6	6			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:75906864C>T	ENST00000274364.6	+	13	1674	c.1377C>T	c.(1375-1377)taC>taT	p.Y459Y	IQGAP2_ENST00000379730.3_Silent_p.Y18Y|IQGAP2_ENST00000502745.1_Silent_p.Y12Y|IQGAP2_ENST00000396234.3_Silent_p.Y12Y	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	459					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CTGTAGGGTACATCAATGAAG	0.398													8	57					0	0	0	0	T	75906864	C	T	75906864	2	4	313	1	0	0	0	0	0	0	0	1	7868	489	17	4		4	IQGAP2	5	75906864	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08	4412797	75906864	105008396	42	55772											
ANKHD1	54882	broad.mit.edu	37	chr5	139921779	139921779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgcttccttcagtccCtgctctcaaaggggaaatcc	8	11	8	14	0	3	0	2	0	2	0	7	1	6	1	3	2	2	2	3	2	2	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:139921779C>T	ENST00000297183.6	+	34	7716	c.7592C>T	c.(7591-7593)cCt>cTt	p.P2531L	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P2531L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCAGTCCCTGCTCTCAAA	0.453													7	42					0	0	0	0	T	139921779	C	T	139921779	3	4	313	1	0	0	0	0	1	0	0	0	628	681	24	4		4	ANKHD1	5	139921779	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	64014915	139921779	40993481	43	55773											
PCDHA12	56137	broad.mit.edu	37	chr5	140256490	140256490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgccacatcttcacggtgtCggcatgggacgcggacgcgc	6	7	14	14	6	2	0	1	0	1	0	3	2	2	2	1	4	1	1	1	4	0	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:140256490C>T	ENST00000398631.2	+	1	1433	c.1433C>T	c.(1432-1434)tCg>tTg	p.S478L	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCACGGTGTCGGCATGGGAC	0.657													10	86					0	0	0	0	T	140256490	C	T	140256490	3	4	313	1	0	0	0	0	1	0	0	0	11593	893	31	1	1435	1	PCDHA12	5	140256490	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	334711	140256490	40658770	44	55774											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745472	140745472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttcgactatgagcagttGagagacctacagttgtgggt	9	12	12	8	1	0	3	0	2	0	1	2	5	1	3	2	1	2	3	2	1	2	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:140745472G>C	ENST00000518069.1	+	1	1575	c.1575G>C	c.(1573-1575)ttG>ttC	p.L525F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGCAGTTGAGAGACCTAC	0.527													19	146					0	0	0	0	C	140745472	G	C	140745472	3	2	313	1	0	0	0	0	1	0	0	0	11628	1281	45	2	1577	2	PCDHGA5	5	140745472	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	488982	140745472	40169788	45	55775											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768196	140768196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagtcaagacgtatacaggGtgagcctttcagaaaacgtg	13	9	11	8	2	3	3	3	1	0	2	3	3	3	3	1	1	3	1	1	1	5	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:140768196G>T	ENST00000519479.1	+	1	745	c.745G>T	c.(745-747)Gtg>Ttg	p.V249L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTATACAGGGTGAGCCTTTC	0.517													22	137					6.21321e-17	7.69981e-17	1	0	T	140768196	G	T	140768196	3	4	313	1	0	0	0	0	1	0	0	0	11636	1261	44	4	747	4	PCDHGB4	5	140768196	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	22724	140768196	40147064	46	55776											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271479	26271479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcgcgcagagccacggtgCcgggacggtagcgatgaggt	7	6	17	11	6	1	2	0	1	1	1	2	4	1	3	2	4	3	2	2	4	1	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:26271479C>A	ENST00000305910.3	-	1	133	c.134G>T	c.(133-135)gGc>gTc	p.G45V		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	45					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						AGCCACGGTGCCGGGACGGTA	0.642													9	80					0.00010058	0.000111633	1	0	A	26271479	C	A	26271479	3	1	313	1	0	0	0	0	1	0	0	0	7211	739	26	4	280	4	HIST1H3G	6	26271479	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08		26271479	144843588	47	55777											
BTN2A2	10385	broad.mit.edu	37	chr6	26392973	26392973	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccgggtgggcgtcttcctGgactatgaagctggagatgt	6	11	16	8	2	1	2	0	1	1	1	2	4	2	3	2	4	2	1	2	4	2	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:26392973G>A	ENST00000356709.4	+	8	1461	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000482536.1_Silent_p.L240L|BTN2A2_ENST00000352867.2_Silent_p.L334L|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000416795.2_Silent_p.L450L	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	450	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GCGTCTTCCTGGACTATGAAG	0.547													10	101					0	0	0	0	A	26392973	G	A	26392973	2	1	313	1	0	0	0	0	0	0	0	1	1570	1335	47	4		4	BTN2A2	6	26392973	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08	121494	26392973	144722094	48	55778											
BAI3	577	broad.mit.edu	37	chr6	70071087	70071087	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagaatgatggaaagtgacTatattgtgatgcccagaagt	16	10	11	4	0	0	5	0	3	0	2	0	6	0	6	1	1	1	0	1	1	6	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:70071087T>C	ENST00000370598.1	+	29	4743	c.3922T>C	c.(3922-3924)Tat>Cat	p.Y1308H	BAI3_ENST00000546190.1_Missense_Mutation_p.Y272H|BAI3_ENST00000238918.8_Missense_Mutation_p.Y514H	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1308					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGAAAGTGACTATATTGTGAT	0.398													6	50					0	0	0	0	C	70071087	T	C	70071087	3	2	313	1	0	0	0	0	1	0	0	0	1304	1522	53	5	4028	5	BAI3	6	70071087	Missense_Mutation	SNP	T	TCGA-CV-7422-01A-21D-2078-08	43678114	70071087	101043980	49	55779											
DOPEY1	23033	broad.mit.edu	37	chr6	83834483	83834483	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtaatgactcatctgaatTacagctgaccaatttctgct	12	14	6	9	0	3	3	1	3	2	0	3	3	3	3	1	0	3	3	1	0	5	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:83834483T>A	ENST00000349129.2	+	13	1660	c.1400T>A	c.(1399-1401)tTa>tAa	p.L467*	DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.L458*|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.L458*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	467					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCATCTGAATTACAGCTGACC	0.368													13	164					0	0	0	0	A	83834483	T	A	83834483	4	1	313	1	0	0	0	0	0	1	0	0	4743	1764	61	5	1442	5	DOPEY1	6	83834483	Nonsense_Mutation	SNP	T	TCGA-CV-7422-01A-21D-2078-08	13763396	83834483	87280584	50	55780											
RSPH4A	345895	broad.mit.edu	37	chr6	116938023	116938023	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccgcgggaccagaaacAtcatcacctgctcctgtctc	8	7	9	17	2	3	1	2	0	1	1	5	2	4	2	5	2	2	1	5	2	1	0	rs145831200		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:116938023A>G	ENST00000229554.5	+	1	374	c.237A>G	c.(235-237)acA>acG	p.T79T	RSPH4A_ENST00000368581.4_Silent_p.T79T|RSPH4A_ENST00000368580.4_Silent_p.T79T	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	79					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GACCAGAAACATCATCACCTG	0.657									Kartagener syndrome				13	57					0	0	0	0	G	116938023	A	G	116938023	2	3	313	1	0	0	0	0	0	0	0	1	13791	204	8	5		5	RSPH4A	6	116938023	Silent	SNP	A	TCGA-CV-7422-01A-21D-2078-08	33103540	116938023	54177044	51	55781											
TMEM200A	114801	broad.mit.edu	37	chr6	130762772	130762772	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtccttggacttagaccGgggtccctccactctaactg	9	10	9	13	1	1	1	0	0	1	1	4	2	4	2	4	3	1	0	4	3	3	3	rs148429620		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:130762772G>C	ENST00000392429.1	+	2	3583	c.1205G>C	c.(1204-1206)cGg>cCg	p.R402P	TMEM200A_ENST00000545622.1_Missense_Mutation_p.R402P|TMEM200A_ENST00000296978.3_Missense_Mutation_p.R402P	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	402						integral to membrane		p.R402Q(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GACTTAGACCGGGGTCCCTCC	0.502													7	82					0	0	0	0	C	130762772	G	C	130762772	3	2	313	1	0	0	0	0	1	0	0	0	16217	1116	39	3	1207	3	TMEM200A	6	130762772	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	13824749	130762772	40352295	52	55782											
SYNE1	23345	broad.mit.edu	37	chr6	152631904	152631904	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccgtcccagttctgccacTtgctgagacattttttctgt	5	16	7	13	1	2	1	0	1	2	1	4	2	4	1	3	0	2	2	3	0	0	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:152631904T>C	ENST00000367255.5	-	88	17416	c.16815A>G	c.(16813-16815)caA>caG	p.Q5605Q	SYNE1_ENST00000423061.1_Silent_p.Q5534Q|SYNE1_ENST00000448038.1_Silent_p.Q5534Q|SYNE1_ENST00000356820.4_Silent_p.Q129Q|SYNE1_ENST00000341594.5_Silent_p.Q5217Q|SYNE1_ENST00000265368.4_Silent_p.Q5605Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5605					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCTGCCACTTGCTGAGACA	0.413										HNSCC(10;0.0054)			15	20					0	0	0	0	C	152631904	T	C	152631904	2	2	313	1	0	0	0	0	0	0	0	1	15536	1606	56	5		5	SYNE1	6	152631904	Silent	SNP	T	TCGA-CV-7422-01A-21D-2078-08	21869132	152631904	18483163	53	55783											
UNC93A	54346	broad.mit.edu	37	chr6	167708122	167708122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgagaggctgggctgcaagGggaccatcatcctctccatg	8	8	13	12	1	2	1	1	0	1	1	5	3	3	2	3	4	1	3	3	4	1	0			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:167708122G>T	ENST00000230256.3	+	2	380	c.205G>T	c.(205-207)Ggg>Tgg	p.G69W	UNC93A_ENST00000366829.2_Missense_Mutation_p.G69W|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	69						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGCTGCAAGGGGACCATCAT	0.652													14	190					6.72482e-11	7.99067e-11	1	0	T	167708122	G	T	167708122	3	4	313	1	0	0	0	0	1	0	0	0	17092	1232	43	4	211	4	UNC93A	6	167708122	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	15076218	167708122	3406945	54	55784											
NPTX2	4885	broad.mit.edu	37	chr7	98256574	98256574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgggaggcattccaggacgGagagaagctgggcactgggg	9	5	20	7	1	0	1	0	0	0	1	1	5	1	4	1	7	1	3	1	7	1	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr7:98256574G>A	ENST00000265634.3	+	4	1151	c.986G>A	c.(985-987)gGa>gAa	p.G329E		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	329	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCAGGACGGAGAGAAGCTG	0.642													15	44					0	0	0	0	A	98256574	G	A	98256574	3	1	313	1	0	0	0	0	1	0	0	0	10674	1174	41	2	1000	2	NPTX2	7	98256574	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08		98256574	60882089	55	55785											
SLC13A1	6561	broad.mit.edu	37	chr7	122787224	122787224	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttacttacgtattgaaataCtctgcaaagatcaagttggt	13	14	8	6	1	2	2	1	1	1	1	2	2	2	2	0	1	4	4	0	1	7	6			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr7:122787224C>T	ENST00000194130.2	-	7	840	c.801G>A	c.(799-801)gaG>gaA	p.E267E	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	267						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TATTGAAATACTCTGCAAAGA	0.368													4	25					0	0	0	0	T	122787224	C	T	122787224	2	4	313	1	0	0	0	0	0	0	0	1	14479	564	20	4		4	SLC13A1	7	122787224	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08	24530650	122787224	36351439	56	55786											
USP17L2	377630	broad.mit.edu	37	chr8	11995148	11995148	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctttcccattcactcttCtggatgtaaaagaggacata	11	14	7	9	0	4	1	1	0	3	1	5	3	5	3	1	2	0	1	1	2	3	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr8:11995148C>G	ENST00000333796.3	-	1	1438	c.1122G>C	c.(1120-1122)caG>caC	p.Q374H	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	374					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ATTCACTCTTCTGGATGTAAA	0.517													4	52					0	0	0	0	G	11995148	C	G	11995148	3	3	313	1	0	0	0	0	1	0	0	0	17144	912	32	2	474	2	USP17L2	8	11995148	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08		11995148	134368874	57	55787											
ZFHX4	79776	broad.mit.edu	37	chr8	77766752	77766752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctccgttcttggaaaggcCcatggacatgccctacatga	9	10	9	13	1	2	1	0	1	2	0	3	3	2	3	3	3	2	1	3	3	2	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr8:77766752C>G	ENST00000521891.2	+	10	8043	c.7595C>G	c.(7594-7596)cCc>cGc	p.P2532R	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2487R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2487R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2506R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2487						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGGAAAGGCCCATGGACATG	0.527										HNSCC(33;0.089)			12	98					0	0	0	0	G	77766752	C	G	77766752	3	3	313	1	0	0	0	0	1	0	0	0	17730	623	22	4	7629	4	ZFHX4	8	77766752	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	65771604	77766752	68597270	58	55788											
LRP12	29967	broad.mit.edu	37	chr8	105521200	105521200	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcgcctgggtttgcccttAtgaaccagctacagttgatt	7	15	9	10	1	0	2	0	2	0	0	1	2	0	2	3	1	4	3	3	1	3	6			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr8:105521200A>G	ENST00000276654.5	-	3	347	c.239T>C	c.(238-240)aTa>aCa	p.I80T	LRP12_ENST00000424843.2_Missense_Mutation_p.I61T	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	80	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTTTGCCCTTATGAACCAGCT	0.368													7	82					0	0	0	0	G	105521200	A	G	105521200	3	3	313	1	0	0	0	0	1	0	0	0	9018	449	16	5	2360	5	LRP12	8	105521200	Missense_Mutation	SNP	A	TCGA-CV-7422-01A-21D-2078-08	27754448	105521200	40842822	59	55789											
KLHL9	55958	broad.mit.edu	37	chr9	21333736	21333736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcatccatttattataccGaggatcaaatctgaaaactg	14	12	6	9	1	2	1	1	1	1	0	3	3	3	2	2	1	3	1	2	1	6	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:21333736G>A	ENST00000359039.4	-	1	1643	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	KLHL9_ENST00000537938.1_Missense_Mutation_p.R307W			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	375					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		p.R375W(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTATTATACCGAGGATCAAAT	0.383													29	65					0	0	0	0	A	21333736	G	A	21333736	3	1	313	1	0	0	0	0	1	0	0	0	8448	1057	37	1	734	1	KLHL9	9	21333736	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08		21333736	119879695	60	55790											
FBP2	8789	broad.mit.edu	37	chr9	97346868	97346868	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctactcacctttctataGatggcaaagatggttccgat	10	14	8	9	1	3	2	1	0	2	2	4	3	4	2	2	2	1	2	2	2	4	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:97346868G>C	ENST00000375337.3	-	3	483	c.417C>G	c.(415-417)atC>atG	p.I139M		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	139					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CCTTTCTATAGATGGCAAAGA	0.493													6	39					0	0	0	0	C	97346868	G	C	97346868	3	2	313	1	0	0	0	0	1	0	0	0	5751	932	33	2	622	2	FBP2	9	97346868	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	76013132	97346868	43866563	61	55791											
ASTN2	23245	broad.mit.edu	37	chr9	119770538	119770538	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cactcaccacgaagctgcttCctatgggtgaacggagagac	11	7	11	12	2	1	2	1	1	0	1	2	5	2	3	2	2	3	2	2	2	3	2	rs139435569		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:119770538C>T	ENST00000313400.4	-	7	1524	c.1423_splice	c.e7-1	p.G475_splice	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Splice_Site_p.G475_splice|ASTN2_ENST00000361209.2_Splice_Site_p.G424_splice			O75129	ASTN2_HUMAN	astrotactin 2	475						integral to membrane		p.G424E(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAAGCTGCTTCCTATGGGTGA	0.498													8	46					0	0	0	0	T	119770538	C	T	119770538	5	4	313	1	0	0	0	0	0	0	1	0	1069	869	30	2	2895	2	ASTN2	9	119770538	Splice_Site	SNP	C	TCGA-CV-7422-01A-21D-2078-08	22423670	119770538	21442893	62	55792											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123201903	123201903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaggtcatttcttcccCatcagaaccattcttgggct	10	13	7	11	0	4	2	2	1	2	1	5	2	5	2	3	2	1	1	3	2	3	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:123201903C>T	ENST00000349780.4	-	24	3675	c.3496G>A	c.(3496-3498)Ggg>Agg	p.G1166R	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.G1134R|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.G1166R|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.G1125R	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1166	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|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						ATTTCTTCCCCATCAGAACCA	0.512											OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	42					0	0	0	0	T	123201903	C	T	123201903	3	4	313	1	0	0	0	0	1	0	0	0	3175	594	21	4	2245	4	CDK5RAP2	9	123201903	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	3431365	123201903	18011528	63	55793											
OR1L4	254973	broad.mit.edu	37	chr9	125486388	125486388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatgtacctactcactgcGgtggggaatgtgctcatcat	9	12	10	10	1	4	0	4	0	0	0	4	1	4	1	1	3	4	2	1	3	3	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:125486388G>A	ENST00000259466.1	+	1	120	c.120G>A	c.(118-120)gcG>gcA	p.A40A		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A40A(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TACTCACTGCGGTGGGGAATG	0.517													15	145					0	0	0	0	A	125486388	G	A	125486388	2	1	313	1	0	0	0	0	0	0	0	1	11036	1103	39	1		1	OR1L4	9	125486388	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08	2284485	125486388	15727043	64	55794											
FBXO18	84893	broad.mit.edu	37	chr10	5958323	5958323	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactctagaaaacttcttTgcctcggctgacgaagagct	12	10	9	10	2	2	4	0	1	2	3	3	5	2	4	1	1	3	2	1	1	5	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:5958323T>C	ENST00000379999.5	+	11	1949	c.1845T>C	c.(1843-1845)ttT>ttC	p.F615F	FBXO18_ENST00000379994.1_Silent_p.F301F|FBXO18_ENST00000397269.3_Silent_p.F51F|FBXO18_ENST00000362091.4_Silent_p.F564F	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	564					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAAACTTCTTTGCCTCGGCTG	0.468													6	98					0	0	0	0	C	5958323	T	C	5958323	2	2	313	1	0	0	0	0	0	0	0	1	5776	1809	63	5		5	FBXO18	10	5958323	Silent	SNP	T	TCGA-CV-7422-01A-21D-2078-08		5958323	129576424	65	55795											
CUBN	8029	broad.mit.edu	37	chr10	17126316	17126316	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcattgcagctccacgTgggtgaagttgatttgtatt	7	15	12	7	1	1	2	0	2	1	0	2	2	2	2	1	2	2	5	1	2	2	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:17126316T>A	ENST00000377833.4	-	17	2320	c.2255A>T	c.(2254-2256)cAc>cTc	p.H752L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	752	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGCTCCACGTGGGTGAAGTT	0.438													7	62					0	0	0	0	A	17126316	T	A	17126316	3	1	313	1	0	0	0	0	1	0	0	0	4083	1696	59	5	8820	5	CUBN	10	17126316	Missense_Mutation	SNP	T	TCGA-CV-7422-01A-21D-2078-08	11167993	17126316	118408431	66	55796											
KIAA1462	57608	broad.mit.edu	37	chr10	30315990	30315990	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggacagtgggagccctgcCcccctctctccaccactgtc	6	7	10	18	0	1	0	0	0	1	0	4	2	2	2	6	2	2	0	6	2	0	0			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:30315990C>G	ENST00000375377.1	-	3	3188	c.3087G>C	c.(3085-3087)ggG>ggC	p.G1029G		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1029										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGAGCCCTGCCCCCCTCTCTC	0.587													27	96					0	0	0	0	G	30315990	C	G	30315990	2	3	313	1	0	0	0	0	0	0	0	1	8285	610	22	4		4	KIAA1462	10	30315990	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08	13189674	30315990	105218757	67	55797											
ZNF239	8187	broad.mit.edu	37	chr10	44052206	44052206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaggttggagctctggCtgaagcccttcccacacttg	7	11	12	11	0	1	2	0	2	1	0	2	3	2	3	2	3	2	3	2	3	2	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:44052206C>A	ENST00000306006.6	-	2	1974	c.1322G>T	c.(1321-1323)aGc>aTc	p.S441I	ZNF239_ENST00000535642.1_Missense_Mutation_p.S441I|ZNF239_ENST00000426961.1_Missense_Mutation_p.S441I|ZNF239_ENST00000374446.2_Missense_Mutation_p.S441I	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGCTCTGGCTGAAGCCCTT	0.502													5	28					0.00116845	0.00124224	1	0	A	44052206	C	A	44052206	3	1	313	1	0	0	0	0	1	0	0	0	17886	797	28	4	58	4	ZNF239	10	44052206	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	13736216	44052206	91482541	68	55798											
BICC1	80114	broad.mit.edu	37	chr10	60461890	60461890	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaactgaagatcggagcCaaatccaagaaaggtaaatt	19	7	8	7	1	1	3	1	1	0	2	3	4	2	4	2	2	2	1	2	2	8	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:60461890C>A	ENST00000373886.3	+	3	298	c.294C>A	c.(292-294)gcC>gcA	p.A98A		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	98					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGATCGGAGCCAAATCCAAGA	0.373													6	33					0.00116845	0.00124224	1	0	A	60461890	C	A	60461890	2	1	313	1	0	0	0	0	0	0	0	1	1432	581	21	4		4	BICC1	10	60461890	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08	16409684	60461890	75072857	69	55799											
LRIT1	26103	broad.mit.edu	37	chr10	85992510	85992510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgtgttctgtggaagtcgGtggctcagtgacaatcaagg	9	11	14	7	1	3	1	2	1	1	0	4	2	3	2	0	4	0	2	0	4	3	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:85992510G>T	ENST00000372105.3	-	4	1066	c.1045C>A	c.(1045-1047)Ccg>Acg	p.P349T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	349						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GTGGAAGTCGGTGGCTCAGTG	0.567													3	35					0.004672	0.00486466	1	0	T	85992510	G	T	85992510	3	4	313	1	0	0	0	0	1	0	0	0	9011	1261	44	4	830	4	LRIT1	10	85992510	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	25530620	85992510	49542237	70	55800											
ACTA2	59	broad.mit.edu	37	chr10	90707105	90707105	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctctgtgcttcgtcaccCacgtagctgtctttttgtcc	3	17	8	13	2	3	0	1	0	2	0	5	0	4	0	2	0	3	4	2	0	1	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:90707105C>G	ENST00000458208.1	-	3	642	c.168G>C	c.(166-168)gtG>gtC	p.V56V	ACTA2_ENST00000224784.6_Silent_p.V56V|ACTA2_ENST00000480297.1_5'UTR|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	56					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CTTCGTCACCCACGTAGCTGT	0.473													34	117					0	0	0	0	G	90707105	C	G	90707105	2	3	313	1	0	0	0	0	0	0	0	1	192	581	21	4		4	ACTA2	10	90707105	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08	4714595	90707105	44827642	71	55801											
HPS1	3257	broad.mit.edu	37	chr10	100195167	100195167	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggcaatgaacaggcattctCcaaactgcaggcacaggcag	13	6	11	11	0	1	1	0	1	1	0	2	1	1	1	1	4	3	5	1	4	3	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:100195167C>G	ENST00000325103.6	-	5	493	c.260G>C	c.(259-261)gGa>gCa	p.G87A	HPS1_ENST00000361490.4_Missense_Mutation_p.G87A|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Missense_Mutation_p.G87A	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	87					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CAGGCATTCTCCAAACTGCAG	0.597									Hermansky-Pudlak syndrome				5	55					0	0	0	0	G	100195167	C	G	100195167	3	3	313	1	0	0	0	0	1	0	0	0	7389	855	30	2	1944	2	HPS1	10	100195167	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	9488062	100195167	35339580	72	55802											
CNNM1	26507	broad.mit.edu	37	chr10	101090475	101090475	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agactgcttcatgctgcgctCagacgcggtgctcgacttcg	6	10	12	13	5	2	2	2	0	0	2	4	3	2	2	0	1	4	4	0	1	0	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:101090475C>G	ENST00000356713.4	+	1	1620	c.1331C>G	c.(1330-1332)tCa>tGa	p.S444*	CNNM1_ENST00000370534.4_Nonsense_Mutation_p.S79*|CNNM1_ENST00000370528.3_Nonsense_Mutation_p.S373*|CNNM1_ENST00000446890.1_Nonsense_Mutation_p.S373*	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	444	CBS 1.			S -> P (in Ref. 4; AAH98307).	ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		ATGCTGCGCTCAGACGCGGTG	0.612													8	47					0	0	0	0	G	101090475	C	G	101090475	4	3	313	1	0	0	0	0	0	1	0	0	3642	838	29	2	1333	2	CNNM1	10	101090475	Nonsense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	895308	101090475	34444272	73	55803											
ELOVL3	83401	broad.mit.edu	37	chr10	103989006	103989006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccaagaccaagagccaGtgaaggtttggagagaacaa	18	4	12	7	0	0	4	0	1	0	3	0	6	0	5	3	2	3	1	3	2	6	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:103989006G>T	ENST00000370005.3	+	4	1031	c.810G>T	c.(808-810)caG>caT	p.Q270H		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	270					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CCAAGAGCCAGTGAAGGTTTG	0.493											OREG0020475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	41					0.004672	0.00486466	1	0	T	103989006	G	T	103989006	3	4	313	1	0	0	0	0	1	0	0	0	5113	1020	36	4	824	4	ELOVL3	10	103989006	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	2898531	103989006	31545741	74	55804											
OR52N1	79473	broad.mit.edu	37	chr11	5809578	5809578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtggaagggataacaaGcatcacacccctaagaaaag	19	4	10	8	0	1	1	1	0	0	1	1	4	1	3	2	2	2	1	2	2	7	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:5809578G>T	ENST00000317078.1	-	1	468	c.469C>A	c.(469-471)Ctt>Att	p.L157I	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGGATAACAAGCATCACACCC	0.507													9	35					0.000442599	0.000478102	1	0	T	5809578	G	T	5809578	3	4	313	1	0	0	0	0	1	0	0	0	11198	971	34	4	496	4	OR52N1	11	5809578	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08		5809578	129196938	75	55805											
OR10A2	341276	broad.mit.edu	37	chr11	6891559	6891559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgccatcgtcggaaccattCtggtggtcatgatcccctgc	7	10	10	14	3	2	1	1	1	1	0	5	2	3	2	4	3	2	0	4	3	1	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:6891559C>G	ENST00000307322.4	+	1	636	c.574C>G	c.(574-576)Ctg>Gtg	p.L192V		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGGAACCATTCTGGTGGTCAT	0.502													20	106					0	0	0	0	G	6891559	C	G	6891559	3	3	313	1	0	0	0	0	1	0	0	0	10961	912	32	2	576	2	OR10A2	11	6891559	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	1081981	6891559	128114957	76	55806											
CALCA	796	broad.mit.edu	37	chr11	14989343	14989343	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatctgctcagcaagccTgccagccgatgagtcacaca	10	7	9	15	1	3	2	2	2	1	0	3	3	3	2	4	0	5	2	4	0	1	0			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:14989343T>G	ENST00000361010.3	-	4	359	c.285A>C	c.(283-285)gcA>gcC	p.A95A	CALCB_ENST00000523376.1_Intron|CALCA_ENST00000486207.1_Silent_p.A95A	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	95					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	TCAGCAAGCCTGCCAGCCGAT	0.542													10	75					0	0	0	0	G	14989343	T	G	14989343	2	3	313	1	0	0	0	0	0	0	0	1	2600	1567	55	5		5	CALCA	11	14989343	Silent	SNP	T	TCGA-CV-7422-01A-21D-2078-08	8097784	14989343	120017173	77	55807											
OR4C12	283093	broad.mit.edu	37	chr11	50003965	50003965	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaaaatactacaaacgTgactttctccattatggggt	15	11	6	9	1	1	1	0	1	1	0	2	1	1	1	2	2	4	0	2	2	7	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:50003965T>G	ENST00000335238.4	-	1	106	c.73A>C	c.(73-75)Acg>Ccg	p.T25P		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ACTACAAACGTGACTTTCTCC	0.408													6	54					0	0	0	0	G	50003965	T	G	50003965	3	3	313	1	0	0	0	0	1	0	0	0	11117	1696	59	5	860	5	OR4C12	11	50003965	Missense_Mutation	SNP	T	TCGA-CV-7422-01A-21D-2078-08	35014622	50003965	85002551	78	55808											
NPAS4	266743	broad.mit.edu	37	chr11	66191816	66191816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccactaactagcccactGcaaggccagttgactgaaac	13	7	8	13	0	0	2	0	2	0	0	1	3	1	2	3	1	4	2	3	1	4	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:66191816G>A	ENST00000311034.2	+	7	1631	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	485					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTAGCCCACTGCAAGGCCAGT	0.557													136	217					0	0	0	0	A	66191816	G	A	66191816	2	1	313	1	0	0	0	0	0	0	0	1	10635	1306	46	4		4	NPAS4	11	66191816	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08	16187851	66191816	68814700	79	55809											
PC	5091	broad.mit.edu	37	chr11	66638327	66638327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attcccaaaggcggccagagCctctgagtaggcccgggtgt	8	7	14	12	2	1	2	0	1	1	1	2	2	2	2	4	4	1	1	4	4	2	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:66638327C>T	ENST00000393960.1	-	8	951	c.670G>A	c.(670-672)Gct>Act	p.A224T	PC_ENST00000393955.2_Missense_Mutation_p.A224T|PC_ENST00000355677.3_Missense_Mutation_p.A224T|PC_ENST00000393958.2_Missense_Mutation_p.A224T|PC_ENST00000524491.1_Missense_Mutation_p.A184T	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	224	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCGGCCAGAGCCTCTGAGTAG	0.637													35	214					0	0	0	0	T	66638327	C	T	66638327	3	4	313	1	0	0	0	0	1	0	0	0	11568	739	26	4	2930	4	PC	11	66638327	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	446511	66638327	68368189	80	55810											
PPFIA1	8500	broad.mit.edu	37	chr11	70224267	70224267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgacttcttctatgtcttcCccctctatgcagccaaagaa	9	13	6	13	0	4	2	0	1	4	1	5	2	5	2	3	0	2	1	3	0	4	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:70224267C>T	ENST00000253925.7	+	26	3731	c.3516C>T	c.(3514-3516)tcC>tcT	p.S1172S	AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000389547.3_Silent_p.S1172S	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1172					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTATGTCTTCCCCCTCTATGC	0.488													20	215					0	0	0	0	T	70224267	C	T	70224267	2	4	313	1	0	0	0	0	0	0	0	1	12380	610	22	4		4	PPFIA1	11	70224267	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08	3585940	70224267	64782249	81	55811											
PAK1	5058	broad.mit.edu	37	chr11	77066805	77066805	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctggtggagtggtgttaTtttcagtaggtgaaatggga	9	14	15	3	0	2	1	1	1	1	0	2	3	2	3	0	5	0	2	0	5	3	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:77066805T>C	ENST00000356341.3	-	7	1211	c.680A>G	c.(679-681)aAt>aGt	p.N227S	PAK1_ENST00000278568.4_Missense_Mutation_p.N227S|PAK1_ENST00000530617.1_Missense_Mutation_p.N227S|PAK1_ENST00000525542.1_Intron|PAK1_ENST00000528203.1_Missense_Mutation_p.N129S	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	227	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					AGTGGTGTTATTTTCAGTAGG	0.443													36	69					0	0	0	0	C	77066805	T	C	77066805	3	2	313	1	0	0	0	0	1	0	0	0	11470	1493	52	5	1046	5	PAK1	11	77066805	Missense_Mutation	SNP	T	TCGA-CV-7422-01A-21D-2078-08	6842538	77066805	57939711	82	55812											
PANX1	24145	broad.mit.edu	37	chr11	93911630	93911630	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcatatttgctcagacttGaagtttatcatggaagaact	12	14	7	8	0	3	3	3	1	0	2	3	4	3	4	1	1	2	2	1	1	5	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:93911630G>C	ENST00000227638.3	+	3	802	c.417G>C	c.(415-417)ttG>ttC	p.L139F	PANX1_ENST00000436171.2_Missense_Mutation_p.L139F	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	139					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTCAGACTTGAAGTTTATCA	0.493													9	42					0	0	0	0	C	93911630	G	C	93911630	3	2	313	1	0	0	0	0	1	0	0	0	11491	1281	45	2	427	2	PANX1	11	93911630	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	16844825	93911630	41094886	83	55813											
BSX	390259	broad.mit.edu	37	chr11	122848470	122848470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagccgagcctcggcggCggtggcggcctctgaaccgc	4	5	16	16	6	2	1	1	1	1	0	3	2	2	1	4	5	3	1	4	5	1	0			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:122848470C>T	ENST00000343035.2	-	3	637	c.589G>A	c.(589-591)Gcc>Acc	p.A197T		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	197										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCCTCGGCGGCGGTGGCGGCC	0.672													3	27					0	0	0	0	T	122848470	C	T	122848470	3	4	313	1	0	0	0	0	1	0	0	0	1543	768	27	1	115	1	BSX	11	122848470	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	28936840	122848470	12158046	84	55814											
ETS1	2113	broad.mit.edu	37	chr11	128354827	128354827	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggtctcggagaatgacCgaggggtagtcattctcata	11	9	14	7	2	3	3	2	1	2	2	5	5	3	3	1	4	0	1	1	4	3	3	rs142070153	byFrequency	TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:128354827C>G	ENST00000392668.3	-	7	821	c.753G>C	c.(751-753)tcG>tcC	p.S251S	ETS1_ENST00000319397.5_Silent_p.S207S|ETS1_ENST00000526145.1_Silent_p.S207S|ETS1_ENST00000345075.4_Silent_p.S207S|ETS1_ENST00000531611.1_Silent_p.S207S|ETS1_ENST00000535549.1_Intron	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	207					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GGAGAATGACCGAGGGGTAGT	0.517													27	55					0	0	0	0	G	128354827	C	G	128354827	2	3	313	1	0	0	0	0	0	0	0	1	5313	639	23	3		3	ETS1	11	128354827	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08	5506357	128354827	6651689	85	55815											
TAPBPL	55080	broad.mit.edu	37	chr12	6566666	6566666	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctccatggcaccgggcttGgacctcatcagtgtggagtg	6	11	13	11	1	3	0	2	0	1	0	4	2	3	2	3	4	0	2	3	4	0	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:6566666G>C	ENST00000266556.7	+	4	825	c.660G>C	c.(658-660)ttG>ttC	p.L220F	TAPBPL_ENST00000544021.1_Missense_Mutation_p.L143F|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	220	Ig-like V-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CACCGGGCTTGGACCTCATCA	0.622													12	74					0	0	0	0	C	6566666	G	C	6566666	3	2	313	1	0	0	0	0	1	0	0	0	15644	1339	47	4	674	4	TAPBPL	12	6566666	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08		6566666	127285229	86	55816											
PLCZ1	89869	broad.mit.edu	37	chr12	18847863	18847863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttattgtaagtgtaattGgcataccctcttttatgtta	9	18	6	8	0	1	0	0	0	1	0	1	0	1	0	2	1	1	4	2	1	6	9			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:18847863G>T	ENST00000266505.7	-	12	1705	c.1442C>A	c.(1441-1443)cCa>cAa	p.P481Q	PLCZ1_ENST00000435379.1_Missense_Mutation_p.P286Q|PLCZ1_ENST00000534932.1_Intron|PLCZ1_ENST00000541695.1_Missense_Mutation_p.P344Q|PLCZ1_ENST00000538330.1_Missense_Mutation_p.P263Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.P288Q|PLCZ1_ENST00000447925.2_Missense_Mutation_p.P479Q			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	481	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AAGTGTAATTGGCATACCCTC	0.269													4	38					1.23904e-05	1.39048e-05	1	0	T	18847863	G	T	18847863	3	4	313	1	0	0	0	0	1	0	0	0	12116	1348	47	4	400	4	PLCZ1	12	18847863	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	12281197	18847863	115004032	87	55817											
LRMP	4033	broad.mit.edu	37	chr12	25259893	25259893	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaactaaagatgactcaGagccatctggagaagaaaca	19	5	9	8	0	2	6	1	1	1	5	2	7	2	6	1	1	3	0	1	1	5	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:25259893G>T	ENST00000354454.3	+	20	1994	c.1165G>T	c.(1165-1167)Gag>Tag	p.E389*	LRMP_ENST00000547044.1_Nonsense_Mutation_p.E389*|LRMP_ENST00000548766.1_Nonsense_Mutation_p.E389*	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	445					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AGATGACTCAGAGCCATCTGG	0.303													5	33					0.0215528	0.0220998	1	0	T	25259893	G	T	25259893	4	4	313	1	0	0	0	0	0	1	0	0	9014	943	33	2	1227	2	LRMP	12	25259893	Nonsense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	6412030	25259893	108592002	88	55818											
KRT71	112802	broad.mit.edu	37	chr12	52938396	52938396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaatcgttggcactgccccGgctcctgccctccccgcctc	3	9	9	20	3	0	0	0	0	0	0	4	0	2	0	7	2	2	4	7	2	1	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:52938396G>A	ENST00000267119.5	-	9	1561	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	498	Tail.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCACTGCCCCGGCTCCTGCCC	0.622													32	105					0	0	0	0	A	52938396	G	A	52938396	3	1	313	1	0	0	0	0	1	0	0	0	8536	1115	39	1	83	1	KRT71	12	52938396	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	27678503	52938396	80913499	89	55819											
RNF41	10193	broad.mit.edu	37	chr12	56604300	56604300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggacatgtctgttgctgaGagaaccactgggtgatgcag	9	10	14	8	0	1	3	0	2	1	1	1	5	1	4	1	2	3	3	1	2	1	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:56604300G>A	ENST00000345093.4	-	4	512	c.143C>T	c.(142-144)tCt>tTt	p.S48F	RNF41_ENST00000552656.1_Missense_Mutation_p.S48F|RNF41_ENST00000394013.2_5'UTR|RNF41_ENST00000552244.1_Missense_Mutation_p.S48F	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	48					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						CTGTTGCTGAGAGAACCACTG	0.532													12	38					0	0	0	0	A	56604300	G	A	56604300	3	1	313	1	0	0	0	0	1	0	0	0	13579	942	33	2	826	2	RNF41	12	56604300	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	3665904	56604300	77247595	90	55820											
GPR182	11318	broad.mit.edu	37	chr12	57389441	57389441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctggtgtgcctcagtgtcGaccgctatgtcaccctcacc	5	11	9	16	2	3	0	3	0	0	0	5	1	4	0	5	1	1	1	5	1	1	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:57389441G>A	ENST00000300098.1	+	2	667	c.448G>A	c.(448-450)Gac>Aac	p.D150N		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	150						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CCTCAGTGTCGACCGCTATGT	0.597													12	71					0	0	0	0	A	57389441	G	A	57389441	3	1	313	1	0	0	0	0	1	0	0	0	6726	1058	37	1	450	1	GPR182	12	57389441	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	785141	57389441	76462454	91	55821											
NXPH4	11247	broad.mit.edu	37	chr12	57619422	57619422	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggctctgtgccaagccCttcaaagtcatctgtatctt	7	13	8	13	0	5	0	2	0	3	0	5	0	5	0	3	1	2	2	3	1	3	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:57619422C>A	ENST00000349394.5	+	2	994	c.819C>A	c.(817-819)ccC>ccA	p.P273P		NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	273	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GTGCCAAGCCCTTCAAAGTCA	0.577													18	49					5.3912e-06	6.11811e-06	1	0	A	57619422	C	A	57619422	2	1	313	1	0	0	0	0	0	0	0	1	10864	668	24	4		4	NXPH4	12	57619422	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08	229981	57619422	76232473	92	55822											
TMBIM4	51643	broad.mit.edu	37	chr12	66539718	66539718	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgaaagcttgcagaataaTatatacatcatagaaagtaa	20	11	6	4	0	1	3	1	1	0	2	1	3	1	3	0	0	3	3	0	0	10	8			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:66539718T>C	ENST00000544599.1	-	0	866				TMBIM4_ENST00000556010.1_Missense_Mutation_p.I123V|TMBIM4_ENST00000542724.1_Missense_Mutation_p.I92V|TMBIM4_ENST00000358230.3_Missense_Mutation_p.I123V|TMBIM4_ENST00000539652.1_Missense_Mutation_p.I123V|TMBIM4_ENST00000398033.4_Missense_Mutation_p.I123V|TMBIM4_ENST00000286424.7_Missense_Mutation_p.I170V			Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4							integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TGCAGAATAATATATACATCA	0.303													10	41					0	0	0	0	C	66539718	T	C	66539718	1	2	313	1	0	0	0	0	0	0	0	0	16076	1406	49	5		5	TMBIM4	12	66539718	Translation_Start_Site	SNP	T	TCGA-CV-7422-01A-21D-2078-08	8920296	66539718	67312177	93	55823											
ZFC3H1	196441	broad.mit.edu	37	chr12	72020216	72020216	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagcagaatccaaggattCtgagcactccctgtatatat	14	11	7	9	0	1	2	0	1	1	1	3	3	3	3	2	1	2	3	2	1	7	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:72020216C>A	ENST00000378743.3	-	22	4499	c.4141G>T	c.(4141-4143)Gaa>Taa	p.E1381*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1381					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCCAAGGATTCTGAGCACTCC	0.353													16	54					4.7546e-09	5.55162e-09	1	0	A	72020216	C	A	72020216	4	1	313	1	0	0	0	0	0	1	0	0	17728	922	32	2	1884	2	ZFC3H1	12	72020216	Nonsense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	5480498	72020216	61831679	94	55824											
NAV3	89795	broad.mit.edu	37	chr12	78400890	78400890	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcttaattccgtcttcCagtggtattccaaaaccagg	12	11	8	10	1	1	0	0	0	1	0	4	1	4	0	4	2	2	2	4	2	5	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:78400890C>G	ENST00000397909.2	+	8	1745	c.1572C>G	c.(1570-1572)tcC>tcG	p.S524S	NAV3_ENST00000228327.6_Silent_p.S524S|NAV3_ENST00000266692.7_Silent_p.S524S|NAV3_ENST00000536525.2_Silent_p.S524S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	524						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTCCGTCTTCCAGTGGTATTC	0.448										HNSCC(70;0.22)			13	69					0	0	0	0	G	78400890	C	G	78400890	2	3	313	1	0	0	0	0	0	0	0	1	10255	581	21	4		4	NAV3	12	78400890	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08	6380674	78400890	55451005	95	55825											
ATP2B1	490	broad.mit.edu	37	chr12	90010659	90010659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcattttcattatcccactCtggttctggttctcctgctg	5	18	6	12	0	5	0	2	0	3	0	7	0	6	0	2	2	1	3	2	2	1	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:90010659C>T	ENST00000428670.3	-	12	2443	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	ATP2B1_ENST00000348959.3_Missense_Mutation_p.E663K|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E663K|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E663K|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E406K			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	663					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTATCCCACTCTGGTTCTGGT	0.428													22	131					0	0	0	0	T	90010659	C	T	90010659	3	4	313	1	0	0	0	0	1	0	0	0	1143	922	32	2	1873	2	ATP2B1	12	90010659	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	11609769	90010659	43841236	96	55826											
OAS1	4938	broad.mit.edu	37	chr12	113346624	113346624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgctgcctgcctttgatgCcctgggtgagagctcccagc	4	11	13	13	0	0	2	0	2	0	1	1	3	1	2	4	1	6	2	4	1	0	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:113346624C>T	ENST00000452357.2	+	2	654	c.464C>T	c.(463-465)gCc>gTc	p.A155V	OAS1_ENST00000553185.1_Missense_Mutation_p.A155V|OAS1_ENST00000551241.1_Missense_Mutation_p.A155V|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.A155V|OAS1_ENST00000202917.5_Missense_Mutation_p.A155V	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	155	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GCCTTTGATGCCCTGGGTGAG	0.582													12	106					0	0	0	0	T	113346624	C	T	113346624	3	4	313	1	0	0	0	0	1	0	0	0	10870	739	26	4	470	4	OAS1	12	113346624	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	23335965	113346624	20505271	97	55827											
UBC	7316	broad.mit.edu	37	chr12	125398024	125398024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgctttgacgttctcgatGgtgtcactgggctcgacctc	4	15	11	11	3	2	1	1	1	1	0	5	3	2	1	1	2	1	3	1	2	0	3	rs1138413		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:125398024G>A	ENST00000536769.1	-	1	1870	c.294C>T	c.(292-294)acC>acT	p.T98T	UBC_ENST00000546120.1_Silent_p.T98T|UBC_ENST00000339647.5_Silent_p.T98T|UBC_ENST00000538617.1_Silent_p.T98T			P0CG48	UBC_HUMAN	ubiquitin C	98	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CGTTCTCGATGGTGTCACTGG	0.562													8	202					0	0	0	0	A	125398024	G	A	125398024	2	1	313	1	0	0	0	0	0	0	0	1	16938	1335	47	4		4	UBC	12	125398024	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08	12051400	125398024	8453871	98	55828											
DIS3	22894	broad.mit.edu	37	chr13	73350163	73350163	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggtatgtaccagattttAtgccttgctgtagcttactt	9	16	9	7	0	0	1	0	0	0	1	0	2	0	1	2	1	5	5	2	1	6	8			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr13:73350163A>C	ENST00000377767.4	-	5	822	c.722T>G	c.(721-723)aTa>aGa	p.I241R	DIS3_ENST00000377780.4_Missense_Mutation_p.I211R|DIS3_ENST00000545453.1_Missense_Mutation_p.I79R	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	241					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ACCAGATTTTATGCCTTGCTG	0.358										Multiple Myeloma(4;0.011)			10	28					0	0	0	0	C	73350163	A	C	73350163	3	2	313	1	0	0	0	0	1	0	0	0	4572	449	16	5	2222	5	DIS3	13	73350163	Missense_Mutation	SNP	A	TCGA-CV-7422-01A-21D-2078-08		73350163	41819715	99	55829											
RNASE12	493901	broad.mit.edu	37	chr14	21058750	21058750	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgatcatgtggttgcagtAccttgcaggaacgggaacgt	10	11	13	7	2	1	1	1	1	0	0	1	3	1	3	1	3	5	4	1	3	4	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr14:21058750A>C	ENST00000556526.1	-	1	232	c.133T>G	c.(133-135)Tac>Gac	p.Y45D	RP11-14J7.6_ENST00000554993.1_RNA|RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|AL163195.3_ENST00000555283.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	45						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		TGGTTGCAGTACCTTGCAGGA	0.443													17	61					0	0	0	0	C	21058750	A	C	21058750	3	2	313	1	0	0	0	0	1	0	0	0	13487	391	14	5	314	5	RNASE12	14	21058750	Missense_Mutation	SNP	A	TCGA-CV-7422-01A-21D-2078-08		21058750	86290790	100	55830											
DICER1	23405	broad.mit.edu	37	chr14	95562901	95562901	+	Frame_Shift_Del	DEL	A	A	-																															cccattaacatattatctatAaatctgatatgttcctgatc																										TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr14:95562901delA	ENST00000526495.1	-	25	4647	c.4356delT	c.(4354-4356)ttfs	p.F1452fs	DICER1_ENST00000343455.3_Frame_Shift_Del_p.F1452fs|DICER1_ENST00000527414.1_Frame_Shift_Del_p.F1452fs|DICER1_ENST00000393063.1_Frame_Shift_Del_p.F1452fs|DICER1_ENST00000541352.1_Frame_Shift_Del_p.F1452fs|DICER1_ENST00000556045.1_Frame_Shift_Del_p.F350fs			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1452					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TATTATCTATAAATCTGATAT	0.413			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				11	67	---	---	---	---					-	95562901	A	-	95562901	7	5	313	1	0	1	0	1	0	0	0	0	4558	359	13	0	1432	0	DICER1	14	95562901	Frame_Shift_Del	DEL	A	TCGA-CV-7422-01A-21D-2078-08	74504151	95562901	11786639	101	55831											
CYFIP1	23191	broad.mit.edu	37	chr15	22990179	22990179	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggtcatggaggagctGctgaaggtcgtcaagagcct	8	8	16	9	2	2	2	2	1	0	1	3	4	2	4	2	4	3	2	2	4	2	0			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:22990179G>C	ENST00000313077.7	+	24	2924	c.2799G>C	c.(2797-2799)ctG>ctC	p.L933L	CYFIP1_ENST00000435939.2_Silent_p.L502L|CYFIP1_ENST00000560848.1_Silent_p.L933L	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	933					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGAGGAGCTGCTGAAGGTCG	0.582													6	69					0	0	0	0	C	22990179	G	C	22990179	2	2	313	1	0	0	0	0	0	0	0	1	4169	1306	46	4		4	CYFIP1	15	22990179	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08		22990179	79541213	102	55832											
HERC2	8924	broad.mit.edu	37	chr15	28459109	28459109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagtcggggaagtagtcctCtaactgggcctagtgcagac	9	8	15	9	1	1	1	0	0	1	1	3	3	2	3	2	4	2	2	2	4	4	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:28459109C>T	ENST00000261609.7	-	42	6673	c.6565G>A	c.(6565-6567)Gag>Aag	p.E2189K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2189					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGTAGTCCTCTAACTGGGCC	0.572													4	27					0	0	0	0	T	28459109	C	T	28459109	3	4	313	1	0	0	0	0	1	0	0	0	7108	922	32	2	8147	2	HERC2	15	28459109	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	5468930	28459109	74072283	103	55833											
RYR3	6263	broad.mit.edu	37	chr15	34040341	34040341	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttatcgctggcctgcGcgagagtccctgaaaaccat	11	9	10	11	3	0	2	0	1	0	1	2	4	1	2	3	1	2	1	3	1	4	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:34040341G>T	ENST00000389232.4	+	54	8086	c.8016G>T	c.(8014-8016)gcG>gcT	p.A2672A	RYR3_ENST00000415757.3_Silent_p.A2672A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2672	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A2672A(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGGCCTGCGCGAGAGTCCC	0.522													9	63					0.000442599	0.000478102	1	0	T	34040341	G	T	34040341	2	4	313	1	0	0	0	0	0	0	0	1	13855	1074	38	3		3	RYR3	15	34040341	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08	5581232	34040341	68491051	104	55834											
C15orf54	400360	broad.mit.edu	37	chr15	39544747	39544747	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgagttcaacaaagcgTgtgtgcactatattggctga	13	11	10	7	1	1	2	1	2	0	0	1	2	1	2	0	1	4	3	0	1	5	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:39544747T>G	ENST00000318578.3	+	2	779	c.411T>G	c.(409-411)cgT>cgG	p.R137R	RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.R137R|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	137										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		CAACAAAGCGTGTGTGCACTA	0.473													14	101					0	0	0	0	G	39544747	T	G	39544747	2	3	313	1	0	0	0	0	0	0	0	1	1814	1683	59	5		5	C15orf54	15	39544747	Silent	SNP	T	TCGA-CV-7422-01A-21D-2078-08	5504406	39544747	62986645	105	55835											
ALPK3	57538	broad.mit.edu	37	chr15	85401044	85401044	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaacaaccacctggtgcaGagtgcacagaccctgctgct	11	6	11	13	0	0	3	0	0	0	3	0	4	0	3	3	1	6	4	3	1	2	0			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:85401044G>A	ENST00000258888.5	+	6	3848	c.3681G>A	c.(3679-3681)caG>caA	p.Q1227Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1227					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACCTGGTGCAGAGTGCACAGA	0.672													13	35					0	0	0	0	A	85401044	G	A	85401044	2	1	313	1	0	0	0	0	0	0	0	1	546	933	33	2		2	ALPK3	15	85401044	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08	45856297	85401044	17130348	106	55836											
CCNF	899	broad.mit.edu	37	chr16	2493727	2493727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagtgagatcgtctgccaGctatttcaggcttcccaggc	7	11	10	13	1	2	1	1	1	1	1	5	2	4	1	3	2	2	2	3	2	1	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr16:2493727G>T	ENST00000397066.4	+	9	943	c.855G>T	c.(853-855)caG>caT	p.Q285H		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	285					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TCGTCTGCCAGCTATTTCAGG	0.502													6	69					0.0215528	0.0220998	1	0	T	2493727	G	T	2493727	3	4	313	1	0	0	0	0	1	0	0	0	2951	962	34	4	889	4	CCNF	16	2493727	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08		2493727	87861026	107	55837											
ITGAD	3681	broad.mit.edu	37	chr16	31419085	31419085	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggctgtctctctgctgcAggtgggacacgctttccagg	4	11	13	13	2	2	0	0	0	2	0	5	1	3	1	1	4	2	4	1	4	0	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr16:31419085A>T	ENST00000389202.2	+	9	907		c.e9-1			NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D						cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTCTGCTGCAGGTGGGACAC	0.622													8	31					0	0	0	0	T	31419085	A	T	31419085	5	4	313	1	0	0	0	0	0	0	1	0	7937	202	7	5	891	5	ITGAD	16	31419085	Splice_Site	SNP	A	TCGA-CV-7422-01A-21D-2078-08	28925358	31419085	58935668	108	55838											
NUP93	9688	broad.mit.edu	37	chr16	56865770	56865770	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtagattgtccccagctacgGaaaacaagctccggctgcat	11	8	10	12	2	0	1	0	0	0	1	2	2	2	2	3	2	5	5	3	2	5	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr16:56865770G>T	ENST00000564887.1	+	9	1362	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	NUP93_ENST00000542526.1_Nonsense_Mutation_p.E245*|NUP93_ENST00000569842.1_Nonsense_Mutation_p.E368*|NUP93_ENST00000308159.5_Nonsense_Mutation_p.E368*	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	368					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCCAGCTACGGAAAACAAGCT	0.493													4	47					0.00909568	0.00942219	1	0	T	56865770	G	T	56865770	4	4	313	1	0	0	0	0	0	1	0	0	10843	1175	41	2	1140	2	NUP93	16	56865770	Nonsense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	25446685	56865770	33488983	109	55839											
TP53	7157	broad.mit.edu	37	chr17	7579377	7579377	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggaaaccgtagctgccctGgtaggttttctgggaaggga	9	9	15	8	2	1	0	0	0	1	0	1	3	1	3	2	5	3	4	2	5	4	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:7579377G>A	ENST00000420246.2	-	4	442	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q104*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	104	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q104*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TAGCTGCCCTGGTAGGTTTTC	0.632		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	57					0	0	0	0	A	7579377	G	A	7579377	4	1	313	1	0	0	0	0	0	1	0	0	16476	1357	47	4	992	4	TP53	17	7579377	Nonsense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08		7579377	73615833	110	55840											
MYH1	4619	broad.mit.edu	37	chr17	10399767	10399767	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcttcatctggtcaatttCctcatctttttcagcaattt	7	20	3	11	0	7	0	4	0	3	0	9	0	8	0	1	1	1	1	1	1	2	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:10399767C>A	ENST00000226207.5	-	34	4850	c.4756G>T	c.(4756-4758)Gaa>Taa	p.E1586*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1586						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTCAATTTCCTCATCTTTT	0.453													22	87					4.35082e-09	5.10968e-09	1	0	A	10399767	C	A	10399767	4	1	313	1	0	0	0	0	0	1	0	0	10099	864	30	2	1091	2	MYH1	17	10399767	Nonsense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	2820390	10399767	70795443	111	55841											
DHRS11	79154	broad.mit.edu	37	chr17	34954655	34954655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccatgaaggagcggaatGtggacgatgggcacatcatt	12	8	14	7	2	1	1	1	1	0	0	2	5	2	4	1	4	1	1	1	4	2	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:34954655G>A	ENST00000251312.5	+	3	633	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	DHRS11_ENST00000590554.1_Missense_Mutation_p.V62M	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	141						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						GGAGCGGAATGTGGACGATGG	0.587													12	87					0	0	0	0	A	34954655	G	A	34954655	3	1	313	1	0	0	0	0	1	0	0	0	4524	1377	48	4	431	4	DHRS11	17	34954655	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	24554888	34954655	46240555	112	55842											
KRT37	8688	broad.mit.edu	37	chr17	39577792	39577792	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctgggccagctctgtGccgtagcggtcctccgcttc	3	11	12	15	3	2	0	0	0	2	0	5	0	4	0	4	2	4	4	4	2	1	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:39577792G>A	ENST00000225550.3	-	6	1067	c.1068C>T	c.(1066-1068)ggC>ggT	p.G356G	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	356	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CCAGCTCTGTGCCGTAGCGGT	0.562													22	39					0	0	0	0	A	39577792	G	A	39577792	2	1	313	1	0	0	0	0	0	0	0	1	8526	1306	46	4		4	KRT37	17	39577792	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08	4623137	39577792	41617418	113	55843											
HEXIM1	10614	broad.mit.edu	37	chr17	43227248	43227248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtactccaagcgggccgccGccaaatccgacgacaccagc	10	4	10	17	5	0	0	0	0	0	0	2	2	2	0	6	1	3	1	6	1	3	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:43227248G>A	ENST00000332499.2	+	1	2565	c.691G>A	c.(691-693)Gcc>Acc	p.A231T		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	231	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGGGCCGCCGCCAAATCCGA	0.622													19	49					0	0	0	0	A	43227248	G	A	43227248	3	1	313	1	0	0	0	0	1	0	0	0	7126	1087	38	1	693	1	HEXIM1	17	43227248	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	3649456	43227248	37967962	114	55844											
CDC27	996	broad.mit.edu	37	chr17	45235606	45235606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gattcaaagggagaccagagGaaaggatttaaactaaggct	17	7	12	5	0	1	2	1	0	0	2	1	6	1	4	1	4	1	1	1	4	5	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:45235606G>A	ENST00000066544.3	-	5	534	c.441C>T	c.(439-441)ttC>ttT	p.F147F	CDC27_ENST00000527547.1_Silent_p.F147F|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Silent_p.F147F|CDC27_ENST00000446365.2_Silent_p.F86F	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	147					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GAGACCAGAGGAAAGGATTTA	0.418													6	54					0	0	0	0	A	45235606	G	A	45235606	2	1	313	1	0	0	0	0	0	0	0	1	3095	1165	41	2		2	CDC27	17	45235606	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08	2008358	45235606	35959604	115	55845											
CA10	56934	broad.mit.edu	37	chr17	49710870	49710870	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttctgggctcggttgtttgGacagtccttcccctgtaaac	5	14	10	12	1	1	0	0	0	1	0	4	1	3	1	3	3	1	4	3	3	2	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:49710870G>C	ENST00000451037.2	-	8	1871	c.931C>G	c.(931-933)Cca>Gca	p.P311A	CA10_ENST00000340813.6_Missense_Mutation_p.P317A|CA10_ENST00000570565.1_Missense_Mutation_p.P236A|CA10_ENST00000285273.4_Missense_Mutation_p.P311A|CA10_ENST00000442502.2_Missense_Mutation_p.P311A	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	311					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CGGTTGTTTGGACAGTCCTTC	0.507													16	53					0	0	0	0	C	49710870	G	C	49710870	3	2	313	1	0	0	0	0	1	0	0	0	2536	1174	41	2	63	2	CA10	17	49710870	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	4475264	49710870	31484340	116	55846											
SLC16A6	9120	broad.mit.edu	37	chr17	66268877	66268877	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgtgataggatggttacAgttgggagaaaactaaagca	15	11	12	3	0	0	2	0	1	0	1	0	4	0	3	0	3	3	3	0	3	7	6			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:66268877A>G	ENST00000327268.4	-	5	572	c.408T>C	c.(406-408)acT>acC	p.T136T	SLC16A6_ENST00000580666.1_Silent_p.T136T|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	136						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GGATGGTTACAGTTGGGAGAA	0.423													10	61					0	0	0	0	G	66268877	A	G	66268877	2	3	313	1	0	0	0	0	0	0	0	1	14500	175	7	5		5	SLC16A6	17	66268877	Silent	SNP	A	TCGA-CV-7422-01A-21D-2078-08	16558007	66268877	14926333	117	55847											
GPR142	350383	broad.mit.edu	37	chr17	72368126	72368126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacggttgaccgctacactgCcctgtgccaccccctgcacc	6	7	8	20	2	0	1	0	1	0	0	0	1	0	1	6	1	4	3	6	1	1	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:72368126C>A	ENST00000335666.4	+	4	824	c.776C>A	c.(775-777)gCc>gAc	p.A259D		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	259						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CGCTACACTGCCCTGTGCCAC	0.682													4	31					0.00024832	0.000272612	1	0	A	72368126	C	A	72368126	3	1	313	1	0	0	0	0	1	0	0	0	6699	739	26	4	790	4	GPR142	17	72368126	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	6099249	72368126	8827084	118	55848											
ZNF562	54811	broad.mit.edu	37	chr19	9764328	9764328	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgagaatttcaagatgcAcagcaaggcctggagttaag	14	9	11	7	0	1	2	1	1	0	2	1	4	1	3	1	2	2	3	1	2	4	3	rs61743320		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:9764328A>G	ENST00000448622.1	-	6	740	c.578T>C	c.(577-579)gTg>gCg	p.V193A	ZNF562_ENST00000537617.1_Missense_Mutation_p.V77A|ZNF562_ENST00000293648.4_Missense_Mutation_p.V121A|ZNF562_ENST00000453792.2_Missense_Mutation_p.V124A|ZNF562_ENST00000453372.2_Missense_Mutation_p.V193A|ZNF562_ENST00000590155.1_Missense_Mutation_p.V192A|ZNF562_ENST00000541032.1_Missense_Mutation_p.V156A	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTCAAGATGCACAGCAAGGCC	0.403													8	65					0	0	0	0	G	9764328	A	G	9764328	3	3	313	1	0	0	0	0	1	0	0	0	18088	159	6	5	706	5	ZNF562	19	9764328	Missense_Mutation	SNP	A	TCGA-CV-7422-01A-21D-2078-08		9764328	49364655	119	55849											
OR10H4	126541	broad.mit.edu	37	chr19	16060695	16060695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttagcccaatcattttcaGcctaaggaacaaggagctga	13	9	8	11	0	2	1	2	1	0	0	2	3	2	3	3	2	4	1	3	2	5	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:16060695G>A	ENST00000322107.1	+	1	878	c.878G>A	c.(877-879)aGc>aAc	p.S293N		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						ATCATTTTCAGCCTAAGGAAC	0.448													44	95					0	0	0	0	A	16060695	G	A	16060695	3	1	313	1	0	0	0	0	1	0	0	0	10979	971	34	4	880	4	OR10H4	19	16060695	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	6296367	16060695	43068288	120	55850											
ELL	8178	broad.mit.edu	37	chr19	18632829	18632829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctaacccgcccgcacgAcagcccgtagctcctatcct	7	7	8	19	5	0	0	0	0	0	0	3	1	2	0	5	0	3	4	5	0	3	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:18632829A>G	ENST00000262809.4	-	1	108	c.37T>C	c.(37-39)Tcg>Ccg	p.S13P		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	13					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CGCCCGCACGACAGCCCGTAG	0.697			T	MLL	AL								3	33					0	0	0	0	G	18632829	A	G	18632829	3	3	313	1	0	0	0	0	1	0	0	0	5100	275	10	5	1876	5	ELL	19	18632829	Missense_Mutation	SNP	A	TCGA-CV-7422-01A-21D-2078-08	2572134	18632829	40496154	121	55851											
WDR62	284403	broad.mit.edu	37	chr19	36593683	36593683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtggaggcctctgaagctGaagaccacttcttcaaccca	11	8	9	13	1	3	3	1	2	2	1	3	4	3	4	3	2	2	1	3	2	3	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:36593683G>A	ENST00000401500.2	+	27	3300	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	WDR62_ENST00000270301.7_Missense_Mutation_p.E1084K	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1084					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCTGAAGCTGAAGACCACTT	0.617													5	36					0	0	0	0	A	36593683	G	A	36593683	3	1	313	1	0	0	0	0	1	0	0	0	17409	1291	45	2	3371	2	WDR62	19	36593683	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	17960854	36593683	22535300	122	55852											
ZNF790	388536	broad.mit.edu	37	chr19	37310699	37310699	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgttgagtatgatctgAaccagaaataaaggctttcc	13	12	9	7	0	1	5	0	4	1	1	2	5	2	5	2	1	1	3	2	1	5	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:37310699A>G	ENST00000356725.4	-	5	667	c.547T>C	c.(547-549)Tca>Cca	p.S183P	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTATGATCTGAACCAGAAATA	0.348													11	67					0	0	0	0	G	37310699	A	G	37310699	3	3	313	1	0	0	0	0	1	0	0	0	18255	246	9	5	1367	5	ZNF790	19	37310699	Missense_Mutation	SNP	A	TCGA-CV-7422-01A-21D-2078-08	717016	37310699	21818284	123	55853											
ZNF569	148266	broad.mit.edu	37	chr19	37904514	37904514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttataaggtttttctcctGtatgacttctcatatgaaga	11	18	6	6	0	2	3	1	2	2	1	4	3	2	3	1	1	0	2	1	1	5	8			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:37904514G>T	ENST00000316950.6	-	6	1603	c.1046C>A	c.(1045-1047)aCa>aAa	p.T349K	ZNF569_ENST00000392150.2_Missense_Mutation_p.T190K|ZNF569_ENST00000392149.2_Missense_Mutation_p.T349K	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTTCTCCTGTATGACTTCT	0.368													11	107					0.000978159	0.001051	1	0	T	37904514	G	T	37904514	3	4	313	1	0	0	0	0	1	0	0	0	18095	1377	48	4	1018	4	ZNF569	19	37904514	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	593815	37904514	21224469	124	55854											
LGALS4	3960	broad.mit.edu	37	chr19	39292682	39292682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggtgatcttcttctcctCggatccccacgagccattca	6	12	9	14	2	4	1	1	1	3	0	7	3	5	2	4	2	1	0	4	2	0	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:39292682C>T	ENST00000307751.4	-	9	1252	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	259	Beta-galactoside binding (By similarity).|Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TTCTTCTCCTCGGATCCCCAC	0.567													15	77					0	0	0	0	T	39292682	C	T	39292682	3	4	313	1	0	0	0	0	1	0	0	0	8798	893	31	1	204	1	LGALS4	19	39292682	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	1388168	39292682	19836301	125	55855											
DYRK1B	9149	broad.mit.edu	37	chr19	40318983	40318983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaagtccacaatcttgatgGcgctgcgcttggggttgcac	7	10	13	11	3	1	1	0	1	1	0	2	2	2	1	1	3	2	4	1	3	2	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:40318983G>T	ENST00000593685.1	-	6	1229	c.761C>A	c.(760-762)gCc>gAc	p.A254D	DYRK1B_ENST00000323039.5_Missense_Mutation_p.A254D|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A254D|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A254D|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A254D			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	254	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AATCTTGATGGCGCTGCGCTT	0.622													6	31					0.00307968	0.00324008	1	0	T	40318983	G	T	40318983	3	4	313	1	0	0	0	0	1	0	0	0	4891	1203	42	4	1152	4	DYRK1B	19	40318983	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	1026301	40318983	18810000	126	55856											
MEIS3	56917	broad.mit.edu	37	chr19	47909780	47909780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttcaaactcatccccactGatcctggaagacaaaaaaaa	18	7	5	11	0	2	2	2	1	0	1	4	3	4	3	3	1	1	1	3	1	6	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:47909780G>A	ENST00000331559.5	-	12	1610	c.1169C>T	c.(1168-1170)tCa>tTa	p.S390L	MEIS3_ENST00000561293.1_Missense_Mutation_p.S407L|MEIS3_ENST00000561096.1_Missense_Mutation_p.S449L|MEIS3_ENST00000559524.1_Missense_Mutation_p.S407L|MEIS3_ENST00000558555.1_Missense_Mutation_p.S361L|MEIS3_ENST00000560253.1_Intron|MEIS3_ENST00000441740.2_Missense_Mutation_p.S344L	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	361						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CATCCCCACTGATCCTGGAAG	0.507													12	94					0	0	0	0	A	47909780	G	A	47909780	3	1	313	1	0	0	0	0	1	0	0	0	9538	1294	45	2	49	2	MEIS3	19	47909780	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	7590797	47909780	11219203	127	55857											
KCNC3	3748	broad.mit.edu	37	chr19	50826961	50826961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggatgcggacgaagcGgaccacccgcaggaagccca	11	1	15	14	5	0	0	0	0	0	0	0	5	0	4	3	4	3	2	3	4	2	0			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:50826961G>A	ENST00000376959.2	-	2	1412	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C	KCNC3_ENST00000477616.1_Missense_Mutation_p.R417C|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	417					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CGGACGAAGCGGACCACCCGC	0.657													10	31					0	0	0	0	A	50826961	G	A	50826961	3	1	313	1	0	0	0	0	1	0	0	0	8069	1116	39	1	1036	1	KCNC3	19	50826961	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	2917181	50826961	8302022	128	55858											
MBOAT7	79143	broad.mit.edu	37	chr19	54677887	54677887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagatggaggcccagtaccGaagggtgtcggccaaggaga	11	5	17	8	2	0	2	0	0	0	2	1	5	0	3	3	5	1	2	3	5	4	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:54677887G>A	ENST00000245615.1	-	8	1750	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	MBOAT7_ENST00000338624.6_Missense_Mutation_p.R351W|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R351W	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	424					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCAGTACCGAAGGGTGTCG	0.647													16	88					0	0	0	0	A	54677887	G	A	54677887	3	1	313	1	0	0	0	0	1	0	0	0	9427	1057	37	1	152	1	MBOAT7	19	54677887	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	3850926	54677887	4451096	129	55859											
PEG3	5178	broad.mit.edu	37	chr19	57325822	57325822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccttgcattcatagaatgGtatagctcctttgaggggct	9	14	10	8	0	1	2	1	1	0	1	3	2	3	2	2	3	2	4	2	3	4	6			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:57325822G>T	ENST00000326441.9	-	10	4351	c.3988C>A	c.(3988-3990)Cca>Aca	p.P1330T	PEG3_ENST00000598410.1_Missense_Mutation_p.P1206T|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.P1204T|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.P1330T|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1330					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCATAGAATGGTATAGCTCCT	0.423													16	46					7.05477e-17	8.68941e-17	1	0	T	57325822	G	T	57325822	3	4	313	1	0	0	0	0	1	0	0	0	11791	1261	44	4	782	4	PEG3	19	57325822	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	2647935	57325822	1803161	130	55860											
CHGB	1114	broad.mit.edu	37	chr20	5904039	5904039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgagccgggaaagggaCgccatcacagaggcagggga	11	3	17	10	2	1	2	1	1	0	1	1	5	1	5	3	5	1	1	3	5	1	1			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr20:5904039C>T	ENST00000378961.4	+	4	1453	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	417			R -> H (in dbSNP:rs742711).			extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGGAAAGGGACGCCATCACAG	0.532													6	67					0	0	0	0	T	5904039	C	T	5904039	3	4	313	1	0	0	0	0	1	0	0	0	3368	536	19	1	1263	1	CHGB	20	5904039	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08		5904039	57121481	131	55861											
PCSK2	5126	broad.mit.edu	37	chr20	17462541	17462541	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcagcgccccgcagaaGggggtgctgaaggagtggac	8	4	19	10	3	0	2	0	1	0	1	1	4	0	4	2	5	2	3	2	5	2	0			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr20:17462541G>C	ENST00000262545.2	+	12	2058	c.1743G>C	c.(1741-1743)aaG>aaC	p.K581N	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.K562N|PCSK2_ENST00000536609.1_Missense_Mutation_p.K546N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	581					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCCGCAGAAGGGGGTGCTGA	0.617													6	32					0	0	0	0	C	17462541	G	C	17462541	3	2	313	1	0	0	0	0	1	0	0	0	11672	991	35	4	1789	4	PCSK2	20	17462541	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	11558502	17462541	45562979	132	55862											
LBP	3929	broad.mit.edu	37	chr20	36975003	36975003	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctctgggtgccaacccCggcttggtcgccaggatcac	6	7	14	14	2	2	0	1	0	1	0	3	2	2	1	4	5	2	2	4	5	1	1	rs149360570		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr20:36975003C>T	ENST00000217407.2	+	1	245	c.84C>T	c.(82-84)ccC>ccT	p.P28P		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	28					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTGCCAACCCCGGCTTGGTCG	0.612													7	47					0	0	0	0	T	36975003	C	T	36975003	2	4	313	1	0	0	0	0	0	0	0	1	8704	639	23	1		1	LBP	20	36975003	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08	19512462	36975003	26050517	133	55863											
TSHZ2	128553	broad.mit.edu	37	chr20	51870578	51870578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaacccagcctgttcagctCggtgcagttgtaccgacaga	10	8	11	12	2	1	1	1	0	0	1	2	3	1	1	3	1	5	5	3	1	2	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr20:51870578C>T	ENST00000371497.5	+	2	1468	c.581C>T	c.(580-582)tCg>tTg	p.S194L	TSHZ2_ENST00000603338.2_Missense_Mutation_p.S191L|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S191L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	194					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTGTTCAGCTCGGTGCAGTTG	0.562													8	40					0	0	0	0	T	51870578	C	T	51870578	3	4	313	1	0	0	0	0	1	0	0	0	16719	893	31	1	587	1	TSHZ2	20	51870578	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	14895575	51870578	11154942	134	55864											
KRTAP6-1	337966	broad.mit.edu	37	chr21	31986075	31986075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagggagcgggagccatagCcatagccacagcccagtctg	11	4	14	12	1	1	1	0	0	1	1	1	3	1	3	4	2	5	0	4	2	2	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr21:31986075C>A	ENST00000329122.2	-	1	174	c.149G>T	c.(148-150)gGc>gTc	p.G50V		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	50						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						GGAGCCATAGCCATAGCCACA	0.592													19	111					5.03518e-11	6.01838e-11	1	0	A	31986075	C	A	31986075	3	1	313	1	0	0	0	0	1	0	0	0	8622	739	26	4	70	4	KRTAP6-1	21	31986075	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08		31986075	16143820	135	55865											
CCT8L2	150160	broad.mit.edu	37	chr22	17071848	17071848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagagtcaggattccagatCtcctgatgtgtgggactttt	8	15	11	7	0	2	3	1	1	1	2	4	5	3	5	2	2	0	0	2	2	1	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr22:17071848C>A	ENST00000359963.3	-	1	1852	c.1593G>T	c.(1591-1593)gaG>gaT	p.E531D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	531					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GATTCCAGATCTCCTGATGTG	0.438													31	108					4.4194e-11	5.31381e-11	1	0	A	17071848	C	A	17071848	3	1	313	1	0	0	0	0	1	0	0	0	2990	912	32	2	84	2	CCT8L2	22	17071848	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08		17071848	34232718	136	55866											
TRIOBP	11078	broad.mit.edu	37	chr22	38165092	38165092	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatcggagcagtactcgcaGaagtgcctggagattggggc	9	8	15	9	2	0	2	0	0	0	2	2	4	0	3	1	4	3	3	1	4	3	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr22:38165092G>A	ENST00000406386.3	+	20	6888	c.6633G>A	c.(6631-6633)caG>caA	p.Q2211Q	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Silent_p.Q498Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2211					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					AGTACTCGCAGAAGTGCCTGG	0.637													16	52					0	0	0	0	A	38165092	G	A	38165092	2	1	313	1	0	0	0	0	0	0	0	1	16648	933	33	2		2	TRIOBP	22	38165092	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08	21093244	38165092	13139474	137	55867											
GPM6B	2824	broad.mit.edu	37	chrX	13825851	13825851	+	Frame_Shift_Del	DEL	G	G	-																															tttgagcctgggtacatccaGtggtacctgccaatttccat																								rs112718705		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:13825851delG	ENST00000316715.4	-	2	536	c.99delC	c.(97-99)cafs	p.H33fs	GPM6B_ENST00000355135.2_Frame_Shift_Del_p.H33fs|GPM6B_ENST00000398361.3_Intron|GPM6B_ENST00000454189.2_Intron|GPM6B_ENST00000356942.5_Intron|GPM6B_ENST00000493677.1_Frame_Shift_Del_p.H7fs	NM_001001995.1	NP_001001995.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	20					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						GGTACATCCAGTGGTACCTGC	0.517													11	135	---	---	---	---					-	13825851	G	-	13825851	7	5	313	1	0	1	0	1	0	0	0	0	6665	1020	36	0	1000	0	GPM6B	23	13825851	Frame_Shift_Del	DEL	G	TCGA-CV-7422-01A-21D-2078-08		13825851	141444709	138	55868											
FANCB	2187	broad.mit.edu	37	chrX	14871234	14871235	+	Frame_Shift_Ins	INS	-	-	T																															tttgtaagattttgaaataaINSttttttccttaagcaacaga																										TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:14871234_14871235insT	ENST00000398334.1	-	6	1519_1520	c.1252_1253insA	c.(1252-1254)tatfs	p.Y418fs	FANCB_ENST00000324138.3_Frame_Shift_Ins_p.Y418fs	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	418					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)					TTTTGAAATAATTTTTTCCTTA	0.312								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	82	---	---	---	---					T	14871235	-	T	14871234	7	5	313	1	0	1	1	0	0	0	0	0	5708	101	4	0	1346	0	FANCB	23	14871234	Frame_Shift_Ins	INS	-	TCGA-CV-7422-01A-21D-2078-08	1045383	14871234	140399326	139	55869											
REPS2	9185	broad.mit.edu	37	chrX	17072947	17072947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagggagcttagtgatgctGactgtgatggagccctgacc	8	11	14	8	0	0	4	0	4	0	0	0	6	0	6	2	2	3	2	2	2	2	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:17072947G>C	ENST00000357277.3	+	8	1159	c.988G>C	c.(988-990)Gac>Cac	p.D330H	REPS2_ENST00000380064.4_Missense_Mutation_p.D190H|REPS2_ENST00000303843.7_Missense_Mutation_p.D329H	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	330	EF-hand.|EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TAGTGATGCTGACTGTGATGG	0.512													8	83					0	0	0	0	C	17072947	G	C	17072947	3	2	313	1	0	0	0	0	1	0	0	0	13311	1290	45	2	1018	2	REPS2	23	17072947	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	2201713	17072947	138197613	140	55870											
GPR64	10149	broad.mit.edu	37	chrX	19039220	19039220	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagcaataatagacaacttAcccattggtcgaatctttac	14	11	6	10	1	1	1	0	0	1	1	2	2	1	1	1	1	4	2	1	1	7	6			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:19039220A>G	ENST00000354791.3	-	13	837		c.e13+1		GPR64_ENST00000360279.4_Splice_Site|GPR64_ENST00000357991.3_Splice_Site|GPR64_ENST00000379869.3_Splice_Site|GPR64_ENST00000379873.2_Splice_Site|GPR64_ENST00000340581.3_Splice_Site|GPR64_ENST00000357544.3_Splice_Site|GPR64_ENST00000356606.4_Splice_Site|GPR64_ENST00000379878.3_Splice_Site|GPR64_ENST00000379876.1_Splice_Site			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64						neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TAGACAACTTACCCATTGGTC	0.284													4	68					0	0	0	0	G	19039220	A	G	19039220	5	3	313	1	0	0	0	0	0	0	1	0	6754	405	14	5	2472	5	GPR64	23	19039220	Splice_Site	SNP	A	TCGA-CV-7422-01A-21D-2078-08	1966273	19039220	136231340	141	55871											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998267	27998267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgtggctgtacacaacGcaggtgatgtttgttgggaa	9	11	13	8	2	0	1	0	1	0	0	1	2	0	2	1	3	2	5	1	3	3	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:27998267G>C	ENST00000441525.1	-	1	1299	c.1185C>G	c.(1183-1185)tgC>tgG	p.C395W		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	395								p.C395C(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGTACACAACGCAGGTGATGT	0.418													24	81					0	0	0	0	C	27998267	G	C	27998267	3	2	313	1	0	0	0	0	1	0	0	0	4310	1079	38	3	621	3	DCAF8L1	23	27998267	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	8959047	27998267	127272293	142	55872											
WDR13	64743	broad.mit.edu	37	chrX	48457988	48457988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggccccctggcagcGtggtgcccacgtcagcagca	6	4	14	17	2	1	0	1	0	0	0	1	0	1	0	4	4	4	3	4	4	0	0			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:48457988G>A	ENST00000218056.5	+	4	911	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	136						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CCCTGGCAGCGTGGTGCCCAC	0.617													15	98					0	0	0	0	A	48457988	G	A	48457988	3	1	313	1	0	0	0	0	1	0	0	0	17371	1145	40	1	420	1	WDR13	23	48457988	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	20459721	48457988	106812572	143	55873											
GSPT2	23708	broad.mit.edu	37	chrX	51486870	51486870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagctcggctttcagcCgtaagctcaacgtcaacgcc	8	8	8	17	4	4	0	4	0	0	0	5	0	4	0	3	1	5	4	3	1	3	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:51486870C>T	ENST00000340438.4	+	1	390	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	50					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GGCTTTCAGCCGTAAGCTCAA	0.697													10	38					0	0	0	0	T	51486870	C	T	51486870	3	4	313	1	0	0	0	0	1	0	0	0	6877	652	23	1	150	1	GSPT2	23	51486870	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	3028882	51486870	103783690	144	55874											
FGD1	2245	broad.mit.edu	37	chrX	54492144	54492144	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctgcacctcatggatGatgactttaaactgggtgga	10	12	10	9	0	1	2	1	2	0	0	1	4	1	4	2	3	3	1	2	3	3	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:54492144G>T	ENST00000375135.3	-	7	2215	c.1482C>A	c.(1480-1482)atC>atA	p.I494I		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	494	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCTCATGGATGATGACTTTAA	0.562													6	71					5.9392e-07	6.85553e-07	1	0	T	54492144	G	T	54492144	2	4	313	1	0	0	0	0	0	0	0	1	5877	1280	45	2		2	FGD1	23	54492144	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08	3005274	54492144	100778416	145	55875											
MED12	9968	broad.mit.edu	37	chrX	70347860	70347860	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaccctgcagctcacacCttcacctacacggggctagg	10	6	10	15	1	2	1	2	0	0	1	2	2	2	1	3	3	4	3	3	3	3	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:70347860C>G	ENST00000333646.6	+	22	3298	c.3099C>G	c.(3097-3099)acC>acG	p.T1033T	MED12_ENST00000374102.1_Silent_p.T1033T|MED12_ENST00000374080.3_Silent_p.T1033T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1033					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGCTCACACCTTCACCTACA	0.527			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	68					0	0	0	0	G	70347860	C	G	70347860	2	3	313	1	0	0	0	0	0	0	0	1	9497	668	24	4		4	MED12	23	70347860	Silent	SNP	C	TCGA-CV-7422-01A-21D-2078-08	15855716	70347860	84922700	146	55876											
PCDH11X	27328	broad.mit.edu	37	chrX	91090649	91090649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgaaagaccttaactTgtcgctgattccaaacaagt	12	13	7	9	1	0	3	0	2	0	1	2	3	1	3	2	0	2	2	2	0	4	5			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:91090649T>C	ENST00000373094.1	+	1	991	c.146T>C	c.(145-147)tTg>tCg	p.L49S	PCDH11X_ENST00000504220.1_Missense_Mutation_p.L49S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.L49S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.L49S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L49S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L49S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L49S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L49S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L49S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	49	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GACCTTAACTTGTCGCTGATT	0.473													11	88					0	0	0	0	C	91090649	T	C	91090649	3	2	313	1	0	0	0	0	1	0	0	0	11579	1821	63	5	148	5	PCDH11X	23	91090649	Missense_Mutation	SNP	T	TCGA-CV-7422-01A-21D-2078-08	20742789	91090649	64179911	147	55877											
PCDH11X	27328	broad.mit.edu	37	chrX	91090730	91090730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggagatgtgccactgattcGaattgaagaggatactggtg	11	10	14	6	2	0	4	0	2	0	2	1	7	0	5	1	3	2	0	1	3	3	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:91090730G>A	ENST00000373094.1	+	1	1072	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	PCDH11X_ENST00000504220.1_Missense_Mutation_p.R76Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R76Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R76Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R76Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R76Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R76Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R76Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R76Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	76	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCACTGATTCGAATTGAAGAG	0.438													21	141					0	0	0	0	A	91090730	G	A	91090730	3	1	313	1	0	0	0	0	1	0	0	0	11579	1058	37	1	229	1	PCDH11X	23	91090730	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	81	91090730	64179830	148	55878											
CENPI	2491	broad.mit.edu	37	chrX	100403043	100403043	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttgggaaaggaatatatAttgaccctgaaatcctagaa	15	11	8	7	0	0	3	0	2	0	1	1	5	1	5	3	2	0	0	3	2	8	6			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:100403043A>T	ENST00000372927.1	+	19	2264	c.1987A>T	c.(1987-1989)Att>Ttt	p.I663F	CENPI_ENST00000218507.5_Missense_Mutation_p.I663F|CENPI_ENST00000423383.1_Missense_Mutation_p.I663F	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	663					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGGAATATATATTGACCCTGA	0.363													16	178					0	0	0	0	T	100403043	A	T	100403043	3	4	313	1	0	0	0	0	1	0	0	0	3262	449	16	5	2057	5	CENPI	23	100403043	Missense_Mutation	SNP	A	TCGA-CV-7422-01A-21D-2078-08	9312313	100403043	54867517	149	55879											
DOCK11	139818	broad.mit.edu	37	chrX	117815169	117815169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctctactgacgtggacatGattcagctccaacttaaatt	11	13	6	11	1	2	2	1	2	1	0	4	3	4	3	2	1	3	1	2	1	4	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:117815169G>C	ENST00000276204.6	+	50	5894	c.5820G>C	c.(5818-5820)atG>atC	p.M1940I	DOCK11_ENST00000276202.7_Missense_Mutation_p.M1940I			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1940	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ACGTGGACATGATTCAGCTCC	0.373													29	86					0	0	0	0	C	117815169	G	C	117815169	3	2	313	1	0	0	0	0	1	0	0	0	4722	1290	45	2	6018	2	DOCK11	23	117815169	Missense_Mutation	SNP	G	TCGA-CV-7422-01A-21D-2078-08	17412126	117815169	37455391	150	55880											
CUL4B	8450	broad.mit.edu	37	chrX	119672528	119672528	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctaccatgtttaagtttGgacagcattgatttttcagc	11	15	7	8	0	1	1	1	1	0	0	1	2	1	2	2	1	4	3	2	1	3	7			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:119672528G>T	ENST00000371322.5	-	13	1900	c.1839C>A	c.(1837-1839)tcC>tcA	p.S613S	CUL4B_ENST00000404115.3_Silent_p.S631S|CUL4B_ENST00000336592.6_Silent_p.S618S	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	631					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTAAGTTTGGACAGCATTG	0.383													25	103					7.26314e-15	8.83828e-15	1	0	T	119672528	G	T	119672528	2	4	313	1	0	0	0	0	0	0	0	1	4090	1335	47	4		4	CUL4B	23	119672528	Silent	SNP	G	TCGA-CV-7422-01A-21D-2078-08	1857359	119672528	35598032	151	55881											
THOC2	57187	broad.mit.edu	37	chrX	122837338	122837338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcagcaagaatggagggCatatcctcacgaaattccta	15	8	8	10	1	2	1	2	0	0	1	4	3	4	2	2	2	1	2	2	2	5	3			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:122837338C>T	ENST00000245838.8	-	4	271	c.240G>A	c.(238-240)atG>atA	p.M80I	THOC2_ENST00000355725.4_Missense_Mutation_p.M80I	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	80					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GAATGGAGGGCATATCCTCAC	0.308													5	80					0	0	0	0	T	122837338	C	T	122837338	3	4	313	1	0	0	0	0	1	0	0	0	15959	710	25	4	4681	4	THOC2	23	122837338	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	3164810	122837338	32433222	152	55882											
HMGB3	3149	broad.mit.edu	37	chrX	150156302	150156302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatggtgcaaagggtcctgCtaaagttgcccggaaaaagg	12	8	14	7	1	0	1	0	1	0	0	1	2	1	2	2	4	3	3	2	4	5	2			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:150156302C>T	ENST00000325307.7	+	5	614	c.518C>T	c.(517-519)gCt>gTt	p.A173V	HMGB3_ENST00000448905.2_Missense_Mutation_p.A173V	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	173					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.A173D(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGTCCTGCTAAAGTTGCC	0.443													5	84					0	0	0	0	T	150156302	C	T	150156302	3	4	313	1	0	0	0	0	1	0	0	0	7277	797	28	4	532	4	HMGB3	23	150156302	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	27318964	150156302	5114258	153	55883											
GABRA3	2556	broad.mit.edu	37	chrX	151336737	151336737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttgatagctgactccCggttgacatatgtggcccaa	8	11	10	12	1	0	3	0	3	0	0	1	3	1	3	3	2	2	2	3	2	3	4			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:151336737C>A	ENST00000370314.4	-	10	1680	c.1442G>T	c.(1441-1443)cGg>cTg	p.R481L	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.R481L|GABRA3_ENST00000370311.1_Missense_Mutation_p.R481L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	481					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGCTGACTCCCGGTTGACATA	0.493													8	88					5.18039e-06	5.94568e-06	1	0	A	151336737	C	A	151336737	3	1	313	1	0	0	0	0	1	0	0	0	6210	652	23	3	40	3	GABRA3	23	151336737	Missense_Mutation	SNP	C	TCGA-CV-7422-01A-21D-2078-08	1180435	151336737	3933823	154	55884											
PADI6	353238	broad.mit.edu	37	chr1	17727771	17727771	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccaaatcaaggggacctGctgcctggaagaaaagattt	13	7	11	10	0	1	2	1	0	0	2	1	4	1	4	4	3	2	1	4	3	5	1			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:17727771G>A	ENST00000434762.2	+	0	1973							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAGGGGACCTGCTGCCTGGAA	0.537													4	38					0	0	0	0	A	17727771	G	A	17727771	1	1	314	0	1	0	0	0	0	0	0	0	11452	1319	46	4		4	PADI6	1	17727771	RNA	SNP	G	TCGA-CV-7423-01A-11D-2078-08		17727771	231522850	1	55885											
HCRTR1	3061	broad.mit.edu	37	chr1	32084929	32084931	+	In_Frame_Del	DEL	GAG	GAG	-																															atctgtacccaaaacagtatGagtgggtcctcatcgcagcc																										TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:32084929_32084931delGAG	ENST00000403528.2	+	3	521_523	c.136_138delGAG	c.(136-138)del	p.E46del	HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_In_Frame_Del_p.E46del|HCRTR1_ENST00000373706.5_In_Frame_Del_p.E46del	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	46					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		AAAACAGTATGAGTGGGTCCTCA	0.606													27	110	---	---	---	---					-	32084931	GAG	-	32084929	7	5	314	1	0	1	0	1	0	0	0	0	7051	1291	45	0	138	0	HCRTR1	1	32084929	In_Frame_Del	DEL	GAG	TCGA-CV-7423-01A-11D-2078-08	14357158	32084929	217165692	2	55886											
KIAA0754	643314	broad.mit.edu	37	chr1	39878082	39878082	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgtggagaaagtttgTgatgaggatggtgaggcaaa	11	12	16	2	0	1	4	0	3	1	1	1	6	1	5	0	4	0	2	0	4	2	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:39878082T>C	ENST00000530275.1	+	1	1932	c.1737T>C	c.(1735-1737)tgT>tgC	p.C579C	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	579										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAGTTTGTGATGAGGATG	0.423													6	38					0	0	0	0	C	39878082	T	C	39878082	2	2	314	1	0	0	0	0	0	0	0	1	8243	1702	59	5		5	KIAA0754	1	39878082	Silent	SNP	T	TCGA-CV-7423-01A-11D-2078-08	7793153	39878082	209372539	3	55887											
EVI5	7813	broad.mit.edu	37	chr1	93167729	93167729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatccaactataaaagcaCttccttgacagtaaccaacc	17	8	3	13	0	0	1	0	1	0	0	2	1	2	1	4	0	4	2	4	0	7	5			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:93167729C>T	ENST00000370331.1	-	5	749	c.740G>A	c.(739-741)aGt>aAt	p.S247N	EVI5_ENST00000543509.1_Missense_Mutation_p.S247N|EVI5_ENST00000540033.1_Missense_Mutation_p.S247N	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	247	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TATAAAAGCACTTCCTTGACA	0.308													8	34					0	0	0	0	T	93167729	C	T	93167729	3	4	314	1	0	0	0	0	1	0	0	0	5327	565	20	4	1748	4	EVI5	1	93167729	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	53289647	93167729	156082892	4	55888											
ABCA4	24	broad.mit.edu	37	chr1	94496611	94496611	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcaaagcggggtattcGccaaaaggagggataacaat	15	6	14	6	2	1	0	1	0	0	0	2	2	1	2	1	5	2	1	1	5	6	3			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:94496611G>A	ENST00000370225.3	-	28	4280	c.4194C>T	c.(4192-4194)ggC>ggT	p.G1398G		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1398					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGGGGTATTCGCCAAAAGGAG	0.512													6	23					0	0	0	0	A	94496611	G	A	94496611	2	1	314	1	0	0	0	0	0	0	0	1	34	1074	38	1		1	ABCA4	1	94496611	Silent	SNP	G	TCGA-CV-7423-01A-11D-2078-08	1328882	94496611	154754010	5	55889											
CSF1	1435	broad.mit.edu	37	chr1	110456910	110456910	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctccctgctgttgttggtCtgtctcctggcgagcaggag	3	12	15	11	1	2	0	0	0	2	0	4	2	3	1	2	4	2	5	2	4	0	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:110456910C>T	ENST00000329608.6	+	2	460	c.69C>T	c.(67-69)gtC>gtT	p.V23V	CSF1_ENST00000420111.2_Silent_p.V23V|CSF1_ENST00000369801.1_Silent_p.V23V|CSF1_ENST00000369802.3_Silent_p.V23V|CSF1_ENST00000344188.5_Silent_p.V23V	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	23					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGTTGTTGGTCTGTCTCCTGG	0.587													16	29					0	0	0	0	T	110456910	C	T	110456910	2	4	314	1	0	0	0	0	0	0	0	1	3963	900	32	2		2	CSF1	1	110456910	Silent	SNP	C	TCGA-CV-7423-01A-11D-2078-08	15960299	110456910	138793711	6	55890											
RSBN1	54665	broad.mit.edu	37	chr1	114354936	114354936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgaccgcccccccgtcCgcgcatcgcgcaagcgccgc	4	2	12	23	9	0	0	0	0	0	0	2	1	1	0	7	1	1	2	7	1	1	0			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:114354936C>T	ENST00000261441.5	-	1	162	c.99G>A	c.(97-99)gcG>gcA	p.A33A		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	33						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCCCCCGTCCGCGCATCGCG	0.672													4	53					0	0	0	0	T	114354936	C	T	114354936	2	4	314	1	0	0	0	0	0	0	0	1	13781	639	23	1		1	RSBN1	1	114354936	Silent	SNP	C	TCGA-CV-7423-01A-11D-2078-08	3898026	114354936	134895685	7	55891											
ANXA9	8416	broad.mit.edu	37	chr1	150967079	150967079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcccaattaccaagtcctGattcgcatccttatctctcg	9	12	6	14	2	1	1	0	1	1	0	6	2	3	1	4	0	2	1	4	0	4	3			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:150967079G>A	ENST00000368947.4	+	13	1355	c.879G>A	c.(877-879)ctG>ctA	p.L293L		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	293					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCAAGTCCTGATTCGCATCC	0.483													12	149					0	0	0	0	A	150967079	G	A	150967079	2	1	314	1	0	0	0	0	0	0	0	1	726	1277	45	2		2	ANXA9	1	150967079	Silent	SNP	G	TCGA-CV-7423-01A-11D-2078-08	36612143	150967079	98283542	8	55892											
CR1	1378	broad.mit.edu	37	chr1	207793408	207793408	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctctggccaaatgtacctCtcgtaagtgcaagtgcaagg	10	10	10	11	1	2	0	0	0	2	0	4	0	3	0	3	2	3	4	3	2	5	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:207793408C>G	ENST00000367049.4	+	43	7250	c.7250C>G	c.(7249-7251)tCt>tGt	p.S2417C	CR1_ENST00000367051.1_Missense_Mutation_p.S1967C|CR1_ENST00000400960.2_Missense_Mutation_p.S1967C|CR1_ENST00000367053.1_Missense_Mutation_p.S1967C|CR1_ENST00000367052.1_Missense_Mutation_p.S1967C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1967					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAATGTACCTCTCGTAAGTGC	0.493											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	14					0	0	0	0	G	207793408	C	G	207793408	3	3	314	1	0	0	0	0	1	0	0	0	3870	913	32	2	7420	2	CR1	1	207793408	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	56826329	207793408	41457213	9	55893											
NID1	4811	broad.mit.edu	37	chr1	236180536	236180536	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttattgcagattgtgtggctCccacacactgagggttgttc	7	14	11	9	0	0	2	0	1	0	1	2	2	1	2	1	2	1	4	1	2	1	5			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:236180536C>T	ENST00000264187.6	-	10	2248	c.2166G>A	c.(2164-2166)ggG>ggA	p.G722G	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	722	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TTGTGTGGCTCCCACACACTG	0.433													18	93					0	0	0	0	T	236180536	C	T	236180536	2	4	314	1	0	0	0	0	0	0	0	1	10484	842	30	2		2	NID1	1	236180536	Silent	SNP	C	TCGA-CV-7423-01A-11D-2078-08	28387128	236180536	13070085	10	55894											
CHRM3	1131	broad.mit.edu	37	chr1	240071198	240071198	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctggcttgccattgactaCgtagccagcaatgcctctgt	7	12	9	13	1	2	1	0	1	2	0	2	1	2	1	3	1	5	3	3	1	3	4			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:240071198C>A	ENST00000255380.4	+	5	1226	c.447C>A	c.(445-447)taC>taA	p.Y149*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	149					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCATTGACTACGTAGCCAGCA	0.473													27	34					9.86323e-18	1.10468e-17	1	0	A	240071198	C	A	240071198	4	1	314	1	0	0	0	0	0	1	0	0	3407	547	19	3	449	3	CHRM3	1	240071198	Nonsense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	3890662	240071198	9179423	11	55895											
FMN2	56776	broad.mit.edu	37	chr1	240492666	240492666	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaactgtcactaatcccCaacttttcagagcgagtctt	11	13	6	11	1	3	2	2	1	1	1	4	3	4	2	2	0	3	0	2	0	4	5			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:240492666C>A	ENST00000319653.9	+	10	4565	c.4335C>A	c.(4333-4335)ccC>ccA	p.P1445P	FMN2_ENST00000545751.1_Silent_p.P41P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1445	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACTAATCCCCAACTTTTCAG	0.363													11	87					0.000673444	0.000698386	1	0	A	240492666	C	A	240492666	2	1	314	1	0	0	0	0	0	0	0	1	5995	581	21	4		4	FMN2	1	240492666	Silent	SNP	C	TCGA-CV-7423-01A-11D-2078-08	421468	240492666	8757955	12	55896											
TTC27	55622	broad.mit.edu	37	chr2	33012122	33012122	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggcagatttgggaaaactAcatcctcaccagcactgacg	12	8	9	12	1	1	2	1	1	0	1	2	3	2	3	2	2	3	2	2	2	3	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:33012122A>G	ENST00000317907.4	+	16	2135	c.1904A>G	c.(1903-1905)tAc>tGc	p.Y635C		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	635							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TGGGAAAACTACATCCTCACC	0.393													11	50					0	0	0	0	G	33012122	A	G	33012122	3	3	314	1	0	0	0	0	1	0	0	0	16791	391	14	5	1966	5	TTC27	2	33012122	Missense_Mutation	SNP	A	TCGA-CV-7423-01A-11D-2078-08		33012122	210187251	13	55897											
TTC7A	57217	broad.mit.edu	37	chr2	47238537	47238537	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaccccaccgtgccccTgatggccgcgaaggtctgca	6	6	12	17	4	1	1	0	1	1	0	2	3	1	2	6	3	2	1	6	3	1	0			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr2:47238537T>C	ENST00000319190.5	+	11	1723	c.1355T>C	c.(1354-1356)cTg>cCg	p.L452P	TTC7A_ENST00000394850.2_Missense_Mutation_p.L452P|TTC7A_ENST00000263737.6_Missense_Mutation_p.L98P|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.L418P	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	452							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ACCGTGCCCCTGATGGCCGCG	0.637													3	14					0	0	0	0	C	47238537	T	C	47238537	3	2	314	1	0	0	0	0	1	0	0	0	16808	1580	55	5	1397	5	TTC7A	2	47238537	Missense_Mutation	SNP	T	TCGA-CV-7423-01A-11D-2078-08	14226415	47238537	195960836	14	55898											
CTNNA2	1496	broad.mit.edu	37	chr2	80646578	80646578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttcaactgtagcttcGgaaagcagtgatggatcaca	11	13	10	7	1	2	1	2	1	0	0	3	3	2	3	0	2	3	4	0	2	3	4			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:80646578G>A	ENST00000466387.1	+	13	1866	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	CTNNA2_ENST00000343114.3_Missense_Mutation_p.R60Q|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R381Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R415Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R381Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	381					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTGTAGCTTCGGAAAGCAGTG	0.358													8	51					0	0	0	0	A	80646578	G	A	80646578	3	1	314	1	0	0	0	0	1	0	0	0	4045	1116	39	1	964	1	CTNNA2	2	80646578	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	33408041	80646578	162552795	15	55899											
PSD4	23550	broad.mit.edu	37	chr2	113942946	113942946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcctctctcaacaggcctCtctcagccctgagggctggc	5	10	10	16	0	4	1	2	1	2	0	6	1	4	1	3	3	3	1	3	3	1	1			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:113942946C>T	ENST00000245796.6	+	4	1373	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	PSD4_ENST00000441564.2_Missense_Mutation_p.S393F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	393					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACAGGCCTCTCTCAGCCCT	0.587													21	90					0	0	0	0	T	113942946	C	T	113942946	3	4	314	1	0	0	0	0	1	0	0	0	12728	913	32	2	1188	2	PSD4	2	113942946	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	33296368	113942946	129256427	16	55900											
SCN2A	6326	broad.mit.edu	37	chr2	166152455	166152455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagagacccaaacaggaacGcaaggatgaggatgatgaaa	19	4	12	6	1	0	4	0	3	0	1	0	8	0	7	1	3	2	1	1	3	5	1			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:166152455G>A	ENST00000357398.3	+	2	412	c.122G>A	c.(121-123)cGc>cAc	p.R41H	SCN2A_ENST00000283256.6_Missense_Mutation_p.R41H|SCN2A_ENST00000375437.2_Missense_Mutation_p.R41H|SCN2A_ENST00000375427.2_Missense_Mutation_p.R41H			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	41					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAACAGGAACGCAAGGATGAG	0.473													9	19					0	0	0	0	A	166152455	G	A	166152455	3	1	314	1	0	0	0	0	1	0	0	0	14003	1087	38	1	124	1	SCN2A	2	166152455	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	52209509	166152455	77046918	17	55901											
TTN	7273	broad.mit.edu	37	chr2	179451387	179451387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactgagtactctgtccagCgatctgcaggctgctcttct	6	12	9	14	1	4	1	0	1	4	0	5	2	5	1	2	1	4	4	2	1	1	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:179451387C>T	ENST00000589042.1	-	308	64465	c.64241G>A	c.(64240-64242)cGc>cAc	p.R21414H	TTN_ENST00000342175.6_Missense_Mutation_p.R12541H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12349H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12474H|TTN_ENST00000342992.6_Missense_Mutation_p.R18846H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19773H|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19773	Fibronectin type-III 55.						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)			CTCTGTCCAGCGATCTGCAGG	0.468													26	73					0	0	0	0	T	179451387	C	T	179451387	3	4	314	1	0	0	0	0	1	0	0	0	16831	768	27	1	43958	1	TTN	2	179451387	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	13298932	179451387	63747986	18	55902											
TTN	7273	broad.mit.edu	37	chr2	179606565	179606565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagattcagacaaaagttCaagtgtttcatttattttag	13	16	8	4	0	3	2	3	0	0	2	3	3	3	2	0	1	0	2	0	1	5	7			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:179606565C>T	ENST00000589042.1	-	48	11619	c.11395G>A	c.(11395-11397)Gaa>Aaa	p.E3799K	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3628K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3436K|TTN_ENST00000359218.5_Missense_Mutation_p.E3561K|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E3482K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3482			S -> Y (in CMD1G).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E3436K(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)			GACAAAAGTTCAAGTGTTTCA	0.373													4	12					0	0	0	0	T	179606565	C	T	179606565	3	4	314	1	0	0	0	0	1	0	0	0	16831	835	29	2	93394	2	TTN	2	179606565	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	155178	179606565	63592808	19	55903											
CNTN6	27255	broad.mit.edu	37	chr3	1424634	1424636	+	In_Frame_Del	DEL	AGA	AGA	-																															attctgcccaagtcaattccAgaagaactgcagaatgggga																										TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:1424634_1424636delAGA	ENST00000446702.2	+	18	2802_2804	c.2175_2177delAGA	c.(2173-2178)cca>cc	p.PE725del	CNTN6_ENST00000350110.2_In_Frame_Del_p.PE725del|CNTN6_ENST00000539053.1_In_Frame_Del_p.PE653del			Q9UQ52	CNTN6_HUMAN	contactin 6	725	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGTCAATTCCAGAAGAACTGCAG	0.384													12	29	---	---	---	---					-	1424636	AGA	-	1424634	7	5	314	1	0	1	0	1	0	0	0	0	3675	175	7	0	2241	0	CNTN6	3	1424634	In_Frame_Del	DEL	AGA	TCGA-CV-7423-01A-11D-2078-08		1424634	196597796	20	55904											
DPPA4	55211	broad.mit.edu	37	chr3	109049479	109049479	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagttgtcaccacaactgTattaactccctcaaggagag	14	9	8	10	0	2	2	2	0	0	2	3	3	3	2	2	1	2	2	2	1	5	3			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:109049479T>G	ENST00000335658.6	-	5	625	c.571A>C	c.(571-573)Aca>Cca	p.T191P	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	191						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						ACCACAACTGTATTAACTCCC	0.562													43	35					0	0	0	0	G	109049479	T	G	109049479	3	3	314	1	0	0	0	0	1	0	0	0	4772	1638	57	5	355	5	DPPA4	3	109049479	Missense_Mutation	SNP	T	TCGA-CV-7423-01A-11D-2078-08	107624845	109049479	88972951	21	55905											
SI	6476	broad.mit.edu	37	chr3	164725717	164725717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctgggaaataaggtggatAatttagttcgtcatttctgc	11	14	10	6	1	2	0	1	0	1	0	3	2	2	2	1	3	1	1	1	3	4	6			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:164725717A>G	ENST00000264382.3	-	36	4311	c.4249T>C	c.(4249-4251)Tat>Cat	p.Y1417H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1417	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAAGGTGGATAATTTAGTTCG	0.264										HNSCC(35;0.089)			8	75					0	0	0	0	G	164725717	A	G	164725717	3	3	314	1	0	0	0	0	1	0	0	0	14385	362	13	5	1286	5	SI	3	164725717	Missense_Mutation	SNP	A	TCGA-CV-7423-01A-11D-2078-08	55676238	164725717	33296713	22	55906											
TRA2B	6434	broad.mit.edu	37	chr3	185644425	185644425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggactttgatctggaaCgcctggaatcttccttggag	8	12	11	10	1	2	1	0	1	2	0	3	5	3	5	3	4	1	0	3	4	2	3			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:185644425C>T	ENST00000453386.2	-	2	409	c.134G>A	c.(133-135)cGt>cAt	p.R45H	TRA2B_ENST00000382191.4_Intron	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	45	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TGATCTGGAACGCCTGGAATC	0.488													28	61					0	0	0	0	T	185644425	C	T	185644425	3	4	314	1	0	0	0	0	1	0	0	0	16529	536	19	1	764	1	TRA2B	3	185644425	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	20918708	185644425	12378005	23	55907											
ATP8A1	10396	broad.mit.edu	37	chr4	42551058	42551058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccaagacattgagcaattCatatctttcttcctgcccca	10	13	4	14	0	3	2	1	1	2	1	5	2	5	2	4	0	2	1	4	0	3	5			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr4:42551058C>T	ENST00000381668.5	-	19	1855	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E527K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	542					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTGAGCAATTCATATCTTTCT	0.308													9	40					0	0	0	0	T	42551058	C	T	42551058	3	4	314	1	0	0	0	0	1	0	0	0	1196	835	29	2	1946	2	ATP8A1	4	42551058	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08		42551058	148603218	24	55908											
IRX1	79192	broad.mit.edu	37	chr5	3600115	3600115	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccctccgccggggcgccGctgcaacaccccgccttcct	3	5	12	21	5	0	0	0	0	0	0	2	0	2	0	8	3	2	2	8	3	1	1			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:3600115G>A	ENST00000302006.3	+	2	1105	c.1053G>A	c.(1051-1053)ccG>ccA	p.P351P	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	351						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ccggggcgccgcTGCAACACC	0.721													5	9					0	0	0	0	A	3600115	G	A	3600115	2	1	314	1	0	0	0	0	0	0	0	1	7896	1074	38	1		1	IRX1	5	3600115	Silent	SNP	G	TCGA-CV-7423-01A-11D-2078-08		3600115	177315145	25	55909											
MAP1B	4131	broad.mit.edu	37	chr5	71491407	71491407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctaaagacgcaaagaaatCatctactcctctgtctgaag	14	9	6	12	1	4	3	1	1	3	2	5	3	5	3	2	0	1	1	2	0	6	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:71491407C>T	ENST00000296755.7	+	5	2523	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	742	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCAAAGAAATCATCTACTCCT	0.393													8	77					0	0	0	0	T	71491407	C	T	71491407	3	4	314	1	0	0	0	0	1	0	0	0	9297	838	29	2	2243	2	MAP1B	5	71491407	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	67891292	71491407	109423853	26	55910											
ERAP1	51752	broad.mit.edu	37	chr5	96121595	96121595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaagagtcccatccatcatCctcgtaatgcacaatgtaat	14	10	5	12	1	1	1	1	0	0	1	5	1	4	1	3	0	1	3	3	0	4	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:96121595C>T	ENST00000296754.3	-	13	2097	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000443439.2_Missense_Mutation_p.D614N	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	614					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CATCCATCATCCTCGTAATGC	0.413													4	49					0	0	0	0	T	96121595	C	T	96121595	3	4	314	1	0	0	0	0	1	0	0	0	5241	855	30	2	1046	2	ERAP1	5	96121595	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	24630188	96121595	84793665	27	55911											
TRIM36	55521	broad.mit.edu	37	chr5	114499269	114499269	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggggaggggagccgaagtcGaggactgctttgattggagt	9	8	19	5	2	0	1	0	1	0	0	1	7	0	5	1	6	2	1	1	6	1	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:114499269G>C	ENST00000513154.1	-	2	534	c.208C>G	c.(208-210)Cga>Gga	p.R70G	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Missense_Mutation_p.R82G			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	82						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGCCGAAGTCGAGGACTGCTT	0.453													5	49					0	0	0	0	C	114499269	G	C	114499269	3	2	314	1	0	0	0	0	1	0	0	0	16605	1066	37	3	1978	3	TRIM36	5	114499269	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	18377674	114499269	66415991	28	55912											
PCDHA7	56141	broad.mit.edu	37	chr5	140215474	140215474	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcgggtgggcgagcgCgcgctgtcgagctacgtgtc	4	7	19	11	7	0	0	0	0	0	0	2	3	0	0	0	2	5	3	0	2	1	1			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:140215474C>T	ENST00000525929.1	+	1	1506	c.1506C>T	c.(1504-1506)cgC>cgT	p.R502R	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.R502R|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGAGCGCGCGCTGTCGA	0.677													13	79					0	0	0	0	T	140215474	C	T	140215474	2	4	314	1	0	0	0	0	0	0	0	1	11600	755	27	1		1	PCDHA7	5	140215474	Silent	SNP	C	TCGA-CV-7423-01A-11D-2078-08	25716205	140215474	40699786	29	55913											
SLC34A1	6569	broad.mit.edu	37	chr5	176824887	176824887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccaaggcgctggggaaacGcacggccaagtaccgctggt	9	4	16	12	4	0	0	0	0	0	0	0	1	0	1	3	6	2	4	3	6	4	1			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:176824887G>A	ENST00000324417.5	+	13	1611	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	507					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGGAAACGCACGGCCAAG	0.607													16	63					0	0	0	0	A	176824887	G	A	176824887	3	1	314	1	0	0	0	0	1	0	0	0	14655	1087	38	1	1657	1	SLC34A1	5	176824887	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	36609413	176824887	4090373	30	55914											
CSNK2B	1460	broad.mit.edu	37	chr6	31635648	31635648	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttccatgtcctgacaggtgGatgaagactacatccaggac	11	9	10	11	0	0	3	0	2	0	1	3	5	3	5	3	3	1	0	3	3	2	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:31635648G>C	ENST00000375880.2	+	3	194	c.76G>C	c.(76-78)Gat>Cat	p.D26H	CSNK2B_ENST00000375866.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375885.4_Missense_Mutation_p.D45H																							CTGACAGGTGGATGAAGACTA	0.458													13	20					0	0	0	0	C	31635648	G	C	31635648	3	2	314	1	0	0	0	0	1	0	0	0	3991	1174	41	2	82	2	CSNK2B	6	31635648	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08		31635648	139479419	31	55915											
GLO1	2739	broad.mit.edu	37	chr6	38670758	38670758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgcccaccttggtactggGgtccgcgtcggagcagcaac	6	8	14	13	3	0	0	0	0	0	0	2	1	1	1	3	4	5	3	3	4	2	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:38670758G>A	ENST00000373365.4	-	1	159	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	25					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	TTGGTACTGGGGTCCGCGTCG	0.711													3	23					0	0	0	0	A	38670758	G	A	38670758	3	1	314	1	0	0	0	0	1	0	0	0	6500	1232	43	4	505	4	GLO1	6	38670758	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	7035110	38670758	132444309	32	55916											
DNAH8	1769	broad.mit.edu	37	chr6	38704881	38704881	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggatgcgtcgaaaggactCttaaatggaattagggatat	13	11	12	5	2	1	0	0	0	1	0	2	5	1	4	0	4	1	0	0	4	6	3			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:38704881C>G	ENST00000359357.3	+	4	404	c.150C>G	c.(148-150)ctC>ctG	p.L50L	DNAH8_ENST00000449981.2_Silent_p.L267L|DNAH8_ENST00000441566.1_Silent_p.L50L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGAAAGGACTCTTAAATGGAA	0.398													5	83					0	0	0	0	G	38704881	C	G	38704881	2	3	314	1	0	0	0	0	0	0	0	1	4643	900	32	2		2	DNAH8	6	38704881	Silent	SNP	C	TCGA-CV-7423-01A-11D-2078-08	34123	38704881	132410186	33	55917											
SLC17A5	26503	broad.mit.edu	37	chr6	74331548	74331548	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttgaacattgaaccttagGatctccttcatataagtagg	12	14	7	8	0	3	2	1	2	2	0	4	3	3	3	2	2	2	1	2	2	6	7	rs147732875		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:74331548G>A	ENST00000355773.5	-	7	1225	c.957C>T	c.(955-957)atC>atT	p.I319I	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	319					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGAACCTTAGGATCTCCTTCA	0.313													9	21					0	0	0	0	A	74331548	G	A	74331548	2	1	314	1	0	0	0	0	0	0	0	1	14508	1164	41	2		2	SLC17A5	6	74331548	Silent	SNP	G	TCGA-CV-7423-01A-11D-2078-08	35626667	74331548	96783519	34	55918											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C																															cgccctgggccccggcgctgINSccccctttgcccccctgcag																										TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)cccfs	p.P728fs	ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698													3	6	---	---	---	---					C	44805119	-	C	44805118	7	5	314	1	0	1	1	0	0	0	0	0	17792	1319	46	0	2240	0	ZMIZ2	7	44805118	Frame_Shift_Ins	INS	-	TCGA-CV-7423-01A-11D-2078-08		44805118	114333545	35	55919											
ELN	2006	broad.mit.edu	37	chr7	73474265	73474265	+	Silent	SNP	T	T	A																															ggagttggcgtggctcctggTgtcggtgtggctcctggagt																										TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:73474265T>A	ENST00000252034.7	+	23	1863	c.1464T>A	c.(1462-1464)ggT>ggA	p.G488G	ELN_ENST00000458204.1_Silent_p.G478G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G474G|ELN_ENST00000380584.4_Silent_p.G455G|ELN_ENST00000414324.1_Silent_p.G464G|ELN_ENST00000380553.4_Silent_p.G352G|ELN_ENST00000358929.4_Silent_p.G523G|ELN_ENST00000380575.4_Silent_p.G459G|ELN_ENST00000380576.5_Silent_p.G469G|ELN_ENST00000357036.5_Silent_p.G493G|ELN_ENST00000320399.6_Silent_p.G488G|ELN_ENST00000445912.1_Silent_p.G488G|ELN_ENST00000320492.7_Silent_p.G407G|ELN_ENST00000380562.4_Silent_p.G494G	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	517	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGCTCCTGGTGTCGGTGTGG	0.602			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						9	175					0	0	0	0	A	73474265	T	A	73474265	2	1	314	1	0	0	0	0	0	0	0	1	5109	1683	59	5		5	ELN	7	73474265	Silent	SNP	T	TCGA-CV-7423-01A-11D-2078-08	28669147	73474265	85664398	36	55920	453	2									
ELN	2006	broad.mit.edu	37	chr7	73474271	73474271	+	Silent	SNP	T	T	C																															ggcgtggctcctggtgtcggTgtggctcctggagttggctt																										TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:73474271T>C	ENST00000252034.7	+	23	1869	c.1470T>C	c.(1468-1470)ggT>ggC	p.G490G	ELN_ENST00000458204.1_Silent_p.G480G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G476G|ELN_ENST00000380584.4_Silent_p.G457G|ELN_ENST00000414324.1_Silent_p.G466G|ELN_ENST00000380553.4_Silent_p.G354G|ELN_ENST00000358929.4_Silent_p.G525G|ELN_ENST00000380575.4_Silent_p.G461G|ELN_ENST00000380576.5_Silent_p.G471G|ELN_ENST00000357036.5_Silent_p.G495G|ELN_ENST00000320399.6_Silent_p.G490G|ELN_ENST00000445912.1_Silent_p.G490G|ELN_ENST00000320492.7_Silent_p.G409G|ELN_ENST00000380562.4_Silent_p.G496G	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	519	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTGGTGTCGGTGTGGCTCCTG	0.602			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						16	173					0	0	0	0	C	73474271	T	C	73474271	2	2	314	1	0	0	0	0	0	0	0	1	5109	1683	59	5		5	ELN	7	73474271	Silent	SNP	T	TCGA-CV-7423-01A-11D-2078-08	6	73474271	85664392	37	55921	453	2									
ACTL6B	51412	broad.mit.edu	37	chr7	100246281	100246281	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgccagaggggacttgacGatgcctagaaggaaggcact	11	6	14	10	1	0	3	0	1	0	2	0	6	0	5	3	4	2	1	3	4	3	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:100246281G>A	ENST00000160382.5	-	7	673	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	189					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGACTTGACGATGCCTAGAA	0.597													9	13					0	0	0	0	A	100246281	G	A	100246281	2	1	314	1	0	0	0	0	0	0	0	1	199	1048	37	1		1	ACTL6B	7	100246281	Silent	SNP	G	TCGA-CV-7423-01A-11D-2078-08	26772010	100246281	58892382	38	55922											
MUC17	140453	broad.mit.edu	37	chr7	100678877	100678877	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaactcaaatcctagtgaaGgaaccactccgttaacaagt	16	8	6	11	1	1	1	1	1	0	0	3	2	3	2	3	1	3	1	3	1	7	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:100678877G>T	ENST00000306151.4	+	3	4244	c.4180G>T	c.(4180-4182)Gga>Tga	p.G1394*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1394	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTAGTGAAGGAACCACTCC	0.507													91	272					4.21773e-46	4.77158e-46	1	0	T	100678877	G	T	100678877	4	4	314	1	0	0	0	0	0	1	0	0	10044	1001	35	4	4190	4	MUC17	7	100678877	Nonsense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	432596	100678877	58459786	39	55923											
IMMP2L	83943	broad.mit.edu	37	chr7	110303748	110303748	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggccacaggatatgtgtGgcatgggcatgcagaagtcc	9	7	17	8	0	0	1	0	0	0	1	1	2	1	2	2	5	1	3	2	5	2	1			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:110303748G>A	ENST00000405709.2	-	6	880	c.438C>T	c.(436-438)gcC>gcT	p.A146A	IMMP2L_ENST00000452895.1_Silent_p.A146A|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000415362.1_Silent_p.A146A|IMMP2L_ENST00000331762.3_Silent_p.A146A|IMMP2L_ENST00000450877.1_Silent_p.A128A	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	146					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GGATATGTGTGGCATGGGCAT	0.418													6	48					0	0	0	0	A	110303748	G	A	110303748	2	1	314	1	0	0	0	0	0	0	0	1	7770	1335	47	4		4	IMMP2L	7	110303748	Silent	SNP	G	TCGA-CV-7423-01A-11D-2078-08	9624871	110303748	48834915	40	55924											
FBXO43	286151	broad.mit.edu	37	chr8	101149817	101149817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatctgttttcagttgtgtGatataaaatttcctcctccg	9	17	7	8	1	2	1	1	1	1	0	5	2	5	1	3	0	0	2	3	0	4	6			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:101149817G>A	ENST00000428847.2	-	3	1966	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	550					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCAGTTGTGTGATATAAAATT	0.303													17	20					0	0	0	0	A	101149817	G	A	101149817	2	1	314	1	0	0	0	0	0	0	0	1	5797	1280	45	2		2	FBXO43	8	101149817	Silent	SNP	G	TCGA-CV-7423-01A-11D-2078-08		101149817	45214205	41	55925											
UBR5	51366	broad.mit.edu	37	chr8	103309160	103309160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaaacccttgcacattccGtacaacaacacagtgactcc	14	7	5	15	1	0	1	0	1	0	0	2	2	2	1	3	0	5	2	3	0	4	3			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:103309160G>A	ENST00000520539.1	-	28	4232	c.3626C>T	c.(3625-3627)aCg>aTg	p.T1209M	UBR5_ENST00000220959.4_Missense_Mutation_p.T1209M|UBR5_ENST00000521922.1_Missense_Mutation_p.T1203M	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1209					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCACATTCCGTACAACAACA	0.318													4	33					0	0	0	0	A	103309160	G	A	103309160	3	1	314	1	0	0	0	0	1	0	0	0	17001	1145	40	1	4901	1	UBR5	8	103309160	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	2159343	103309160	43054862	42	55926											
ZFAT	57623	broad.mit.edu	37	chr8	135620985	135620985	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttacctgcttgacttcaTtggttgctcataaggtgtct	7	17	8	9	0	3	1	2	1	1	0	3	1	3	1	1	2	3	3	1	2	2	7			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:135620985T>C	ENST00000520727.1	-	6	1035	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	ZFAT_ENST00000523399.1_Missense_Mutation_p.M196V|ZFAT_ENST00000377838.3_Missense_Mutation_p.M258V|ZFAT_ENST00000520356.1_Missense_Mutation_p.M246V|ZFAT_ENST00000429442.2_Missense_Mutation_p.M246V|ZFAT_ENST00000520214.1_Missense_Mutation_p.M246V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTGACTTCATTGGTTGCTCA	0.483													52	42					0	0	0	0	C	135620985	T	C	135620985	3	2	314	1	0	0	0	0	1	0	0	0	17727	1493	52	5	3007	5	ZFAT	8	135620985	Missense_Mutation	SNP	T	TCGA-CV-7423-01A-11D-2078-08	32311825	135620985	10743037	43	55927											
ZC3H3	23144	broad.mit.edu	37	chr8	144589967	144589967	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggcagagacagggggaagGgcggggcgctgagaggcgag	10	1	24	6	3	0	2	0	1	0	2	0	6	0	3	0	7	0	2	0	7	1	0			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:144589967G>C	ENST00000262577.5	-	4	1695	c.1664C>G	c.(1663-1665)cCc>cGc	p.P555R		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	555					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CAGGGGGAAGGGCGGGGCGCT	0.667													32	45					0	0	0	0	C	144589967	G	C	144589967	3	2	314	1	0	0	0	0	1	0	0	0	17664	1232	43	4	1218	4	ZC3H3	8	144589967	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	8968982	144589967	1774055	44	55928											
DOCK8	81704	broad.mit.edu	37	chr9	446516	446517	+	Frame_Shift_Ins	INS	-	-	CA																															ggcggcctcggggagagctgINScatgagcagtacagaaggaa																										TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:446516_446517insCA	ENST00000432829.2	+	44	5839_5840	c.5523_5524insCA	c.(5521-5526)ctatgafs	p.*1842fs	DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.*1377fs|DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.*1910fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.*1810fs	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1910					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGGGAGAGCTGCATGAGCAGTA	0.545													12	51	---	---	---	---					CA	446517	-	CA	446516	7	5	314	1	0	1	1	0	0	0	0	0	4729	1306	46	0	5901	0	DOCK8	9	446516	Frame_Shift_Ins	INS	-	TCGA-CV-7423-01A-11D-2078-08		446516	140766915	45	55929											
ACO1	48	broad.mit.edu	37	chr9	32423392	32423392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcgagatttcaatgaccCttctcaagacccagacttca	11	12	6	12	1	3	4	3	1	1	3	5	5	3	4	2	0	0	1	2	0	2	4			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:32423392C>T	ENST00000379923.1	+	10	1252	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L	ACO1_ENST00000541043.1_Missense_Mutation_p.P250L|ACO1_ENST00000309951.5_Missense_Mutation_p.P349L	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	349					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTCAATGACCCTTCTCAAGAC	0.398													6	43					0	0	0	0	T	32423392	C	T	32423392	3	4	314	1	0	0	0	0	1	0	0	0	146	681	24	4	1076	4	ACO1	9	32423392	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	31976876	32423392	108790039	46	55930											
C9orf170	401535	broad.mit.edu	37	chr9	89771559	89771559	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaacttcaggagaaagtcTgatttaggagtcggaagccc	13	8	12	8	1	2	2	1	1	1	1	3	6	2	4	1	3	2	0	1	3	4	3			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:89771559T>C	ENST00000375941.2	+	2	327	c.240T>C	c.(238-240)tcT>tcC	p.S80S		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	80										large_intestine(3)|lung(2)|prostate(1)	6						ggagaaagtctgatttaggag	0.393													4	20					0	0	0	0	C	89771559	T	C	89771559	2	2	314	1	0	0	0	0	0	0	0	1	2494	1567	55	5		5	C9orf170	9	89771559	Silent	SNP	T	TCGA-CV-7423-01A-11D-2078-08	57348167	89771559	51441872	47	55931											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112900135	112900135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagggccgaggagaaggcGtctccaagtcatttagtgat	11	8	14	8	2	2	3	1	1	1	2	3	5	2	3	2	3	0	0	2	3	3	2	rs142423891		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:112900135G>A	ENST00000374530.3	+	8	2491	c.2311G>A	c.(2311-2313)Gtc>Atc	p.V771I	AKAP2_ENST00000434623.2_Missense_Mutation_p.V629I|AKAP2_ENST00000259318.7_Missense_Mutation_p.V540I|AKAP2_ENST00000510514.5_Missense_Mutation_p.V771I|AKAP2_ENST00000374525.1_Missense_Mutation_p.V629I|AKAP2_ENST00000555236.1_Missense_Mutation_p.V771I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V771I	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		540							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGGAGAAGGCGTCTCCAAGTC	0.532													5	46					0	0	0	0	A	112900135	G	A	112900135	3	1	314	1	0	0	0	0	1	0	0	0	11481	1145	40	1	2341	1	PALM2-AKAP2	9	112900135	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	23128576	112900135	28313296	48	55932											
UPF2	26019	broad.mit.edu	37	chr10	11973704	11973704	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctttttcattctcatcctCtcttcttgttctgcctgttg	3	21	5	12	0	5	0	2	0	4	0	8	0	6	0	2	0	2	3	2	0	0	7			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr10:11973704C>G	ENST00000356352.2	-	19	4097	c.3624G>C	c.(3622-3624)gaG>gaC	p.E1208D	UPF2_ENST00000357604.5_Missense_Mutation_p.E1208D|UPF2_ENST00000397053.2_Missense_Mutation_p.E1208D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1208	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTCTCATCCTCTCTTCTTGTT	0.373													10	58					0	0	0	0	G	11973704	C	G	11973704	3	3	314	1	0	0	0	0	1	0	0	0	17100	912	32	2	206	2	UPF2	10	11973704	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08		11973704	123561043	49	55933											
CHST15	51363	broad.mit.edu	37	chr10	125804104	125804104	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagcactcaccaaagcgcTtccgggtccaccagtgtggc	8	6	10	17	2	1	0	1	0	0	0	3	0	3	0	5	2	2	2	5	2	1	1			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr10:125804104T>C	ENST00000346248.5	-	3	1520	c.878A>G	c.(877-879)aAg>aGg	p.K293R	CHST15_ENST00000435907.1_Missense_Mutation_p.K293R|CHST15_ENST00000421115.1_Missense_Mutation_p.K293R	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	293					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						ACCAAAGCGCTTCCGGGTCCA	0.637													7	12					0	0	0	0	C	125804104	T	C	125804104	3	2	314	1	0	0	0	0	1	0	0	0	3432	1609	56	5	831	5	CHST15	10	125804104	Missense_Mutation	SNP	T	TCGA-CV-7423-01A-11D-2078-08	113830400	125804104	9730643	50	55934											
PHLDA2	7262	broad.mit.edu	37	chr11	2950579	2950579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgccctcgcgtagcacctCgtcgggggatttcatgtcgt	4	11	12	14	6	1	0	1	0	0	0	6	1	1	1	2	2	1	2	2	2	1	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:2950579C>T	ENST00000314222.4	-	1	106	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	6					apoptosis	cytoplasm|membrane				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGTAGCACCTCGTCGGGGGAT	0.677													10	8					0	0	0	0	T	2950579	C	T	2950579	3	4	314	1	0	0	0	0	1	0	0	0	11921	893	31	1	446	1	PHLDA2	11	2950579	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08		2950579	132055937	51	55935											
HPX	3263	broad.mit.edu	37	chr11	6452604	6452604	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggccaagggacttttccAtacacaaggctccgtctacc	10	9	9	13	1	1	0	0	0	1	0	3	1	3	1	4	3	2	1	4	3	5	5			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:6452604A>G	ENST00000265983.3	-	10	1326	c.1226T>C	c.(1225-1227)aTg>aCg	p.M409T		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	409					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GGACTTTTCCATACACAAGGC	0.562													15	34					0	0	0	0	G	6452604	A	G	6452604	3	3	314	1	0	0	0	0	1	0	0	0	7396	217	8	5	166	5	HPX	11	6452604	Missense_Mutation	SNP	A	TCGA-CV-7423-01A-11D-2078-08	3502025	6452604	128553912	52	55936											
TUB	7275	broad.mit.edu	37	chr11	8123160	8123160	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgacagcaagctggcgtgCgagtagaggcctcttcgtgc	7	9	14	11	4	1	1	0	0	1	1	3	3	1	1	1	2	4	3	1	2	2	3			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:8123160C>T	ENST00000305253.4	+	13	1921	c.1680C>T	c.(1678-1680)tgC>tgT	p.C560C	TUB_ENST00000534099.1_Silent_p.C511C|TUB_ENST00000299506.2_Silent_p.C505C	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	505					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGCTGGCGTGCGAGTAGAGGC	0.597													15	8					0	0	0	0	T	8123160	C	T	8123160	2	4	314	1	0	0	0	0	0	0	0	1	16838	776	27	1		1	TUB	11	8123160	Silent	SNP	C	TCGA-CV-7423-01A-11D-2078-08	1670556	8123160	126883356	53	55937											
MS4A14	84689	broad.mit.edu	37	chr11	60170536	60170536	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtagaactcttttcattgTaagtggtcttattttgcatg	9	18	8	6	0	3	1	1	0	2	1	3	1	3	1	0	1	2	3	0	1	4	8			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:60170536T>C	ENST00000300187.6	+	4	745		c.e4+2		MS4A14_ENST00000395001.1_Splice_Site|MS4A14_ENST00000531787.1_Splice_Site|MS4A14_ENST00000531783.1_Splice_Site|MS4A14_ENST00000395005.2_Splice_Site	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14							integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTTTTCATTGTAAGTGGTCTT	0.343													21	57					0	0	0	0	C	60170536	T	C	60170536	5	2	314	1	0	0	0	0	0	0	1	0	9928	1652	57	5	484	5	MS4A14	11	60170536	Splice_Site	SNP	T	TCGA-CV-7423-01A-11D-2078-08	52047376	60170536	74835980	54	55938											
MTA2	9219	broad.mit.edu	37	chr11	62361790	62361790	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatcagctgggtttagtttCtgacgcttggctgctggctg	4	14	14	9	1	2	1	1	1	1	0	2	1	2	1	0	3	2	8	0	3	1	4			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:62361790C>G	ENST00000278823.2	-	17	2171	c.1782G>C	c.(1780-1782)caG>caC	p.Q594H	MTA2_ENST00000524902.1_Missense_Mutation_p.Q421H|MTA2_ENST00000527204.1_Missense_Mutation_p.Q421H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	594					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGTTTAGTTTCTGACGCTTGG	0.567													8	49					0	0	0	0	G	62361790	C	G	62361790	3	3	314	1	0	0	0	0	1	0	0	0	9979	912	32	2	232	2	MTA2	11	62361790	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	2191254	62361790	72644726	55	55939											
TBC1D10C	374403	broad.mit.edu	37	chr11	67172899	67172899	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgccggaaaggcatcccGtctgccctgcgcgcccgatg	6	6	13	16	5	1	0	0	0	1	0	2	2	2	1	4	2	3	1	4	2	1	0			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:67172899G>A	ENST00000312390.5	+	4	311	c.282G>A	c.(280-282)ccG>ccA	p.P94P	TBC1D10C_ENST00000542590.1_Silent_p.P94P|TBC1D10C_ENST00000526387.1_Silent_p.P94P	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	94	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AAGGCATCCCGTCTGCCCTGC	0.657													13	38					0	0	0	0	A	67172899	G	A	67172899	2	1	314	1	0	0	0	0	0	0	0	1	15691	1132	40	1		1	TBC1D10C	11	67172899	Silent	SNP	G	TCGA-CV-7423-01A-11D-2078-08	4811109	67172899	67833617	56	55940											
TPCN2	219931	broad.mit.edu	37	chr11	68822187	68822187	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatgtgacttttcgcttgtAgtaccgctccatcaaccacc	8	13	6	14	2	2	1	2	1	0	0	4	1	3	1	4	0	2	4	4	0	3	5			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:68822187A>G	ENST00000294309.3	+	3	275		c.e3-1		TPCN2_ENST00000542467.1_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTCGCTTGTAGTACCGCTCC	0.577													6	25					0	0	0	0	G	68822187	A	G	68822187	5	3	314	1	0	0	0	0	0	0	1	0	16491	434	15	5	183	5	TPCN2	11	68822187	Splice_Site	SNP	A	TCGA-CV-7423-01A-11D-2078-08	1649288	68822187	66184329	57	55941											
NFRKB	4798	broad.mit.edu	37	chr11	129748208	129748208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagtattgtactcacacccGagggacaggtgttgtggcat	10	10	12	9	1	1	0	1	0	0	0	1	2	1	1	1	3	1	4	1	3	2	4			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:129748208G>A	ENST00000446488.3	-	14	1610	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	NFRKB_ENST00000304521.5_Missense_Mutation_p.R503W|NFRKB_ENST00000524746.1_Missense_Mutation_p.R503W|NFRKB_ENST00000524794.1_Missense_Mutation_p.R528W	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	503					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACTCACACCCGAGGGACAGGT	0.433													19	20					0	0	0	0	A	129748208	G	A	129748208	3	1	314	1	0	0	0	0	1	0	0	0	10454	1057	37	1	2444	1	NFRKB	11	129748208	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	60926021	129748208	5258308	58	55942											
PUS7L	83448	broad.mit.edu	37	chr12	44130374	44130374	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctggatacaaccttccTcggtcatgccaaagcggtgc	9	9	10	13	2	1	0	1	0	0	0	3	1	2	1	4	3	6	0	4	3	3	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr12:44130374T>A	ENST00000416848.2	-	7	2023	c.1535A>T	c.(1534-1536)gAg>gTg	p.E512V	PUS7L_ENST00000551923.1_Missense_Mutation_p.E512V|PUS7L_ENST00000344862.5_Missense_Mutation_p.E512V|PUS7L_ENST00000431332.3_Missense_Mutation_p.E199V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	512	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ACAACCTTCCTCGGTCATGCC	0.448													12	50					0	0	0	0	A	44130374	T	A	44130374	3	1	314	1	0	0	0	0	1	0	0	0	12916	1551	54	5	582	5	PUS7L	12	44130374	Missense_Mutation	SNP	T	TCGA-CV-7423-01A-11D-2078-08		44130374	89721521	59	55943											
PUS7L	83448	broad.mit.edu	37	chr12	44148848	44148848	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagttttggttttttgggAaaattatttggctcaagttg	8	20	10	3	0	2	0	1	0	1	0	2	1	2	1	0	3	0	4	0	3	5	9			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr12:44148848A>G	ENST00000416848.2	-	2	689	c.201T>C	c.(199-201)ttT>ttC	p.F67F	PUS7L_ENST00000553166.1_Silent_p.F67F|PUS7L_ENST00000551923.1_Silent_p.F67F|PUS7L_ENST00000344862.5_Silent_p.F67F|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	67					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTTTGGGAAAATTATTTG	0.323													4	52					0	0	0	0	G	44148848	A	G	44148848	2	3	314	1	0	0	0	0	0	0	0	1	12916	243	9	5		5	PUS7L	12	44148848	Silent	SNP	A	TCGA-CV-7423-01A-11D-2078-08	18474	44148848	89703047	60	55944											
EIF4B	1975	broad.mit.edu	37	chr12	53410391	53410391	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacggatgacctggaaggaGatggtaacttttcttttgtc	11	13	11	6	1	1	2	0	1	1	1	2	5	1	4	1	4	2	1	1	4	3	5			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr12:53410391G>C	ENST00000262056.9	+	2	474	c.148G>C	c.(148-150)Gat>Cat	p.D50H	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000416762.3_Missense_Mutation_p.D50H|EIF4B_ENST00000420463.3_Missense_Mutation_p.D50H|RP11-983P16.4_ENST00000549388.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	50					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CCTGGAAGGAGATGGTAACTT	0.403													11	52					0	0	0	0	C	53410391	G	C	53410391	3	2	314	1	0	0	0	0	1	0	0	0	5065	942	33	2	154	2	EIF4B	12	53410391	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	9261543	53410391	80441504	61	55945											
TGM5	9333	broad.mit.edu	37	chr15	43545012	43545012	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtagcgcacgggctggcaGcctgtggcgttccactgctt	4	9	14	14	4	0	0	0	0	0	0	1	0	1	0	3	3	3	6	3	3	1	3			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:43545012G>C	ENST00000220420.5	-	6	814	c.807C>G	c.(805-807)ggC>ggG	p.G269G	TGM5_ENST00000349114.4_Silent_p.G187G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	269					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CGGGCTGGCAGCCTGTGGCGT	0.592													11	51					0	0	0	0	C	43545012	G	C	43545012	2	2	314	1	0	0	0	0	0	0	0	1	15927	958	34	4		4	TGM5	15	43545012	Silent	SNP	G	TCGA-CV-7423-01A-11D-2078-08		43545012	58986380	62	55946											
CGNL1	84952	broad.mit.edu	37	chr15	57730854	57730854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgacagctattcgtttatgCagctccgtggtcatagagga	9	12	12	8	2	1	2	1	1	0	1	3	3	2	3	1	2	3	4	1	2	3	5			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:57730854C>T	ENST00000281282.5	+	2	735	c.657C>T	c.(655-657)tgC>tgT	p.C219C		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	219	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TTCGTTTATGCAGCTCCGTGG	0.527													19	127					0	0	0	0	T	57730854	C	T	57730854	2	4	314	1	0	0	0	0	0	0	0	1	3333	718	25	4		4	CGNL1	15	57730854	Silent	SNP	C	TCGA-CV-7423-01A-11D-2078-08	14185842	57730854	44800538	63	55947											
FAM63B	54629	broad.mit.edu	37	chr15	59064131	59064131	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggactctctggagtcgttCtctaacctgcattcttttcc	5	16	7	13	1	3	0	0	0	3	0	7	2	4	2	2	2	2	2	2	2	1	5			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:59064131C>T	ENST00000559228.1	+	1	619	c.537C>T	c.(535-537)ttC>ttT	p.F179F	FAM63B_ENST00000450403.2_Silent_p.F179F			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	179										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGAGTCGTTCTCTAACCTGC	0.647													11	19					0	0	0	0	T	59064131	C	T	59064131	2	4	314	1	0	0	0	0	0	0	0	1	5643	912	32	2		2	FAM63B	15	59064131	Silent	SNP	C	TCGA-CV-7423-01A-11D-2078-08	1333277	59064131	43467261	64	55948											
CORO2B	10391	broad.mit.edu	37	chr15	69003203	69003203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaacatcctgttcagcGctggctacgactacaaggta	12	8	8	13	2	1	0	1	0	0	0	2	1	2	0	2	2	5	4	2	2	6	4			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:69003203G>A	ENST00000543950.1	+	4	805	c.451G>A	c.(451-453)Gct>Act	p.A151T	CORO2B_ENST00000540068.1_Missense_Mutation_p.A151T|CORO2B_ENST00000566799.1_Missense_Mutation_p.A156T|CORO2B_ENST00000261861.5_Missense_Mutation_p.A151T	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	156					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTGTTCAGCGCTGGCTACGA	0.622													3	5					0	0	0	0	A	69003203	G	A	69003203	3	1	314	1	0	0	0	0	1	0	0	0	3787	1087	38	1	480	1	CORO2B	15	69003203	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	9939072	69003203	33528189	65	55949											
ISLR2	57611	broad.mit.edu	37	chr15	74426761	74426761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcaacgcctactggttcCgcggcctgcggccgggtacc	4	7	14	16	6	1	0	1	0	0	0	2	0	2	0	5	4	4	2	5	4	3	3			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:74426761C>T	ENST00000361742.3	+	4	2435	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	ISLR2_ENST00000565540.1_Missense_Mutation_p.R556C|ISLR2_ENST00000565159.1_Missense_Mutation_p.R556C|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.R556C|ISLR2_ENST00000445793.1_Missense_Mutation_p.R556C|ISLR2_ENST00000435464.1_Missense_Mutation_p.R556C|ISLR2_ENST00000419208.1_Missense_Mutation_p.R556C	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	556					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CTACTGGTTCCGCGGCCTGCG	0.682													4	9					0	0	0	0	T	74426761	C	T	74426761	3	4	314	1	0	0	0	0	1	0	0	0	7912	652	23	1	1668	1	ISLR2	15	74426761	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	5423558	74426761	28104631	66	55950											
UBL7	84993	broad.mit.edu	37	chr15	74740855	74740855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggcctgaagggcatgCtgtagggcttggctgaagag	9	7	17	8	0	0	4	0	2	0	2	0	4	0	4	2	4	1	5	2	4	3	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:74740855C>T	ENST00000567435.1	-	10	1432	c.969G>A	c.(967-969)caG>caA	p.Q323Q	UBL7_ENST00000395081.2_Silent_p.Q323Q|UBL7_ENST00000564488.1_Silent_p.Q323Q|UBL7_ENST00000565335.1_Silent_p.Q323Q|UBL7_ENST00000361351.4_Silent_p.Q323Q			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	323							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GAAGGGCATGCTGTAGGGCTT	0.542													23	106					0	0	0	0	T	74740855	C	T	74740855	2	4	314	1	0	0	0	0	0	0	0	1	16986	796	28	4		4	UBL7	15	74740855	Silent	SNP	C	TCGA-CV-7423-01A-11D-2078-08	314094	74740855	27790537	67	55951											
PKD1	5310	broad.mit.edu	37	chr16	2158547	2158547	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccggctcacgtccacgccGggcagggccacacgcgctgg	5	3	16	17	6	1	0	1	0	0	0	2	0	2	0	4	5	0	3	4	5	0	0			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:2158547G>A	ENST00000262304.4	-	15	6829	c.6621C>T	c.(6619-6621)ccC>ccT	p.P2207P	PKD1_ENST00000423118.1_Silent_p.P2207P	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2207	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTCCACGCCGGGCAGGGCCA	0.697													4	11					0	0	0	0	A	2158547	G	A	2158547	2	1	314	1	0	0	0	0	0	0	0	1	12035	1103	39	1		1	PKD1	16	2158547	Silent	SNP	G	TCGA-CV-7423-01A-11D-2078-08		2158547	88196206	68	55952											
MVP	9961	broad.mit.edu	37	chr16	29851704	29851704	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccatctgccaaagtggAggtggtggaggagcgccagg	8	7	18	8	1	1	0	0	0	1	0	1	3	1	3	3	6	3	0	3	6	1	0			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:29851704A>G	ENST00000357402.5	+	8	1253	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.E372G	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	372					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCCAAAGTGGAGGTGGTGGAG	0.612													2	8					0	0	0	0	G	29851704	A	G	29851704	3	3	314	1	0	0	0	0	1	0	0	0	10066	304	11	5	1141	5	MVP	16	29851704	Missense_Mutation	SNP	A	TCGA-CV-7423-01A-11D-2078-08	27693157	29851704	60503049	69	55953											
ZNF423	23090	broad.mit.edu	37	chr16	49672378	49672378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggtggaggagaagccgcGcttgcacacagtgcacttga	9	7	15	10	2	0	2	0	1	0	1	0	4	0	3	1	3	3	4	1	3	1	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:49672378G>A	ENST00000561648.1	-	4	738	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ZNF423_ENST00000562871.1_Missense_Mutation_p.R169C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R169C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R229C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R169C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R112C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R112C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	229					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAGAAGCCGCGCTTGCACACA	0.597													6	46					0	0	0	0	A	49672378	G	A	49672378	3	1	314	1	0	0	0	0	1	0	0	0	17993	1087	38	1	3189	1	ZNF423	16	49672378	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	19820674	49672378	40682375	70	55954											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39261988	39261988	+	Frame_Shift_Del	DEL	C	C	-																															tgtgagacgacctgctgccaCcctaggtgctgcatctccag																										TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr17:39261988delC	ENST00000391415.1	+	1	405	c.348delC	c.(346-348)cafs	p.H116fs		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	116	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CCTGCTGCCACCCTAGGtgct	0.652													8	12	---	---	---	---					-	39261988	C	-	39261988	7	5	314	1	0	1	0	1	0	0	0	0	8610	506	18	0	350	0	KRTAP4-9	17	39261988	Frame_Shift_Del	DEL	C	TCGA-CV-7423-01A-11D-2078-08		39261988	41933222	71	55955											
ZNF516	9658	broad.mit.edu	37	chr18	74154962	74154962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccccggccggccctggtggGgctggggcctcgcctcagct	1	6	17	17	3	1	0	1	0	0	0	2	0	1	0	6	7	1	2	6	7	0	0			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr18:74154962G>A	ENST00000443185.2	-	3	366	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCCCTGGTGGGGCTGGGGCCT	0.692													7	4					0	0	0	0	A	74154962	G	A	74154962	3	1	314	1	0	0	0	0	1	0	0	0	18055	1232	43	4	3463	4	ZNF516	18	74154962	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08		74154962	3922286	72	55956											
CNN1	1264	broad.mit.edu	37	chr19	11651894	11651894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctcccctcgccccagctgGcccagaagtatgaccaccag	8	5	8	20	1	0	2	0	1	0	1	2	2	1	2	8	1	1	2	8	1	2	1			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:11651894G>A	ENST00000252456.2	+	2	278	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.A3T	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	23					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCCCCAGCTGGCCCAGAAGTA	0.632													3	14					0	0	0	0	A	11651894	G	A	11651894	3	1	314	1	0	0	0	0	1	0	0	0	3639	1203	42	4	73	4	CNN1	19	11651894	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08		11651894	47477089	73	55957											
MAST1	22983	broad.mit.edu	37	chr19	12951871	12951871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcccacttctcgtttgcctCctcccgaaggtgagtccctc	4	11	8	18	3	1	1	0	1	1	0	6	2	4	1	5	1	1	1	5	1	1	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:12951871C>T	ENST00000251472.4	+	3	278	c.239C>T	c.(238-240)tCc>tTc	p.S80F	MAST1_ENST00000591495.1_Missense_Mutation_p.S76F	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	80					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCGTTTGCCTCCTCCCGAAGG	0.627													4	38					0	0	0	0	T	12951871	C	T	12951871	3	4	314	1	0	0	0	0	1	0	0	0	9393	855	30	2	249	2	MAST1	19	12951871	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	1299977	12951871	46177112	74	55958											
EMR3	84658	broad.mit.edu	37	chr19	14752358	14752358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggagaaaagtgagggccGccaggaggaggcacagcaga	15	1	17	8	1	0	3	0	1	0	2	0	6	0	5	2	5	1	2	2	5	2	0	rs146538980	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:14752358G>T	ENST00000253673.5	-	10	1221	c.1121C>A	c.(1120-1122)gCg>gAg	p.A374E	EMR3_ENST00000599900.1_Missense_Mutation_p.A159E|EMR3_ENST00000443157.2_Missense_Mutation_p.A248E|EMR3_ENST00000344373.4_Missense_Mutation_p.A322E	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	374					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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						AGTGAGGGCCGCCAGGAGGAG	0.582													8	37					2.17888e-05	2.32414e-05	1	0	T	14752358	G	T	14752358	3	4	314	1	0	0	0	0	1	0	0	0	5144	1087	38	3	865	3	EMR3	19	14752358	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	1800487	14752358	44376625	75	55959											
HAUS8	93323	broad.mit.edu	37	chr19	17163638	17163638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcattttccgaggtaccttCggagctcaaggtcctttttc	7	14	9	11	2	1	0	1	0	0	0	5	2	3	1	3	3	3	3	3	3	2	6			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:17163638C>T	ENST00000593360.1	-	9	2761	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	HAUS8_ENST00000253669.5_Missense_Mutation_p.R309Q|CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000448593.2_Missense_Mutation_p.R308Q			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	309					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						GAGGTACCTTCGGAGCTCAAG	0.527											OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	80					0	0	0	0	T	17163638	C	T	17163638	3	4	314	1	0	0	0	0	1	0	0	0	7022	884	31	1	314	1	HAUS8	19	17163638	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	2411280	17163638	41965345	76	55960											
GPR4	2828	broad.mit.edu	37	chr19	46094975	46094975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaggtagacgcccagctcGttgcgctgttgcacctggcg	6	9	13	13	4	1	1	1	0	0	1	2	1	1	1	2	2	3	6	2	2	1	3			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:46094975G>A	ENST00000323040.4	-	2	1094	c.150C>T	c.(148-150)aaC>aaT	p.N50N	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	50						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617													18	46					0	0	0	0	A	46094975	G	A	46094975	2	1	314	1	0	0	0	0	0	0	0	1	6743	1136	40	1		1	GPR4	19	46094975	Silent	SNP	G	TCGA-CV-7423-01A-11D-2078-08	28931337	46094975	13034008	77	55961											
LILRA1	11024	broad.mit.edu	37	chr19	55106360	55106360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtatcgctgtttctacGgtagccacactgcaggctgg	6	10	14	11	3	1	0	0	0	1	0	2	0	1	0	1	5	3	6	1	5	3	4			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:55106360G>A	ENST00000453777.1	+	4	471	c.301G>A	c.(301-303)Ggt>Agt	p.G101S	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.G101S|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	101	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGTTTCTACGGTAGCCACAC	0.607													11	52					0	0	0	0	A	55106360	G	A	55106360	3	1	314	1	0	0	0	0	1	0	0	0	8838	1116	39	1	311	1	LILRA1	19	55106360	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	9011385	55106360	4022623	78	55962											
ISM1	140862	broad.mit.edu	37	chr20	13279972	13279972	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactacaaggtggacgtcCtgccctggattatctgcaag	9	10	10	12	1	1	0	0	0	1	0	3	2	3	2	3	3	3	1	3	3	4	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:13279972C>T	ENST00000262487.3	+	6	1267	c.1261C>T	c.(1261-1263)Ctg>Ttg	p.L421L	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	421	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GGTGGACGTCCTGCCCTGGAT	0.622													5	21					0	0	0	0	T	13279972	C	T	13279972	2	4	314	1	0	0	0	0	0	0	0	1	7913	680	24	4		4	ISM1	20	13279972	Silent	SNP	C	TCGA-CV-7423-01A-11D-2078-08		13279972	49745548	79	55963											
PCK1	5105	broad.mit.edu	37	chr20	56137828	56137828	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatcggcatcgagctgacGgattcaccctacgtggtggc	9	8	13	11	4	1	2	1	1	0	1	3	4	1	3	1	4	2	2	1	4	2	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:56137828G>A	ENST00000319441.4	+	4	647	c.483G>A	c.(481-483)acG>acA	p.T161T	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Silent_p.T29T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	161					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCGAGCTGACGGATTCACCCT	0.612													4	46					0	0	0	0	A	56137828	G	A	56137828	2	1	314	1	0	0	0	0	0	0	0	1	11652	1103	39	1		1	PCK1	20	56137828	Silent	SNP	G	TCGA-CV-7423-01A-11D-2078-08	42857856	56137828	6887692	80	55964											
CECR5	27440	broad.mit.edu	37	chr22	17619607	17619607	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaatggtttccaggcacagCagaaaggtgccatgtccaaa	14	8	10	9	0	0	1	0	0	0	1	2	1	2	1	3	3	2	3	3	3	4	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:17619607C>A	ENST00000336737.4	-	7	793	c.768G>T	c.(766-768)ctG>ctT	p.L256L	CECR5_ENST00000155674.5_Silent_p.L226L|CECR5_ENST00000399852.3_Intron	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	256							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCAGGCACAGCAGAAAGGTGC	0.537													13	121					9.31168e-06	1.01253e-05	1	0	A	17619607	C	A	17619607	2	1	314	1	0	0	0	0	0	0	0	1	3236	697	25	4		4	CECR5	22	17619607	Silent	SNP	C	TCGA-CV-7423-01A-11D-2078-08		17619607	33684959	81	55965											
PISD	23761	broad.mit.edu	37	chr22	32017676	32017676	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggccgggcctgcggcttcaGcttgcgccggaagaactcgc	6	6	15	14	5	1	1	1	0	0	1	2	2	1	2	3	4	4	2	3	4	2	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:32017676G>A	ENST00000382151.2	-	4	834	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	PISD_ENST00000266095.5_Silent_p.L139L|PISD_ENST00000397500.1_Silent_p.L139L|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000336566.4_Silent_p.L173L|PISD_ENST00000439502.2_Silent_p.L173L			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	173					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGCGGCTTCAGCTTGCGCCGG	0.602													5	29					0	0	0	0	A	32017676	G	A	32017676	2	1	314	1	0	0	0	0	0	0	0	1	12018	962	34	4		4	PISD	22	32017676	Silent	SNP	G	TCGA-CV-7423-01A-11D-2078-08	14398069	32017676	19286890	82	55966											
KCNJ4	3761	broad.mit.edu	37	chr22	38823814	38823814	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagggcttgggggccacCggggctgctccgccaccacc	5	5	15	16	2	0	0	0	0	0	0	1	0	1	0	6	5	2	4	6	5	0	1			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:38823814C>T	ENST00000303592.3	-	2	582	c.324G>A	c.(322-324)ccG>ccA	p.P108P		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	108	Val/Gly/Ala/Pro stretch.				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGGGGGCCACCGGGGCTGCTC	0.692													15	23					0	0	0	0	T	38823814	C	T	38823814	2	4	314	1	0	0	0	0	0	0	0	1	8106	639	23	1		1	KCNJ4	22	38823814	Silent	SNP	C	TCGA-CV-7423-01A-11D-2078-08	6806138	38823814	12480752	83	55967											
ZC3H7B	23264	broad.mit.edu	37	chr22	41752804	41752804	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccatgggcgagttccggctCtgcgacaggtgctcctggga	5	8	15	13	3	1	0	0	0	1	0	3	3	3	1	3	4	2	3	3	4	0	1			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:41752804C>G	ENST00000352645.4	+	22	2930	c.2673C>G	c.(2671-2673)ctC>ctG	p.L891L	ZC3H7B_ENST00000351589.4_Silent_p.L891L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	907					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGTTCCGGCTCTGCGACAGGT	0.667													7	39					0	0	0	0	G	41752804	C	G	41752804	2	3	314	1	0	0	0	0	0	0	0	1	17668	900	32	2		2	ZC3H7B	22	41752804	Silent	SNP	C	TCGA-CV-7423-01A-11D-2078-08	2928990	41752804	9551762	84	55968											
FBLN1	2192	broad.mit.edu	37	chr22	45929029	45929029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctaccagctgctgtctgatGgtgtctcctgtgaaggtaat	7	13	12	9	0	2	2	0	2	2	0	3	2	2	2	2	2	3	4	2	2	3	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:45929029G>C	ENST00000348697.2	+	6	778	c.631G>C	c.(631-633)Ggt>Cgt	p.G211R	FBLN1_ENST00000340923.5_Missense_Mutation_p.G211R|FBLN1_ENST00000327858.6_Missense_Mutation_p.G211R|FBLN1_ENST00000262722.7_Missense_Mutation_p.G211R|FBLN1_ENST00000402984.3_Missense_Mutation_p.G249R|FBLN1_ENST00000442170.2_Missense_Mutation_p.G211R			P23142	FBLN1_HUMAN	fibulin 1	211	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTGTCTGATGGTGTCTCCTG	0.637													8	35					0	0	0	0	C	45929029	G	C	45929029	3	2	314	1	0	0	0	0	1	0	0	0	5743	1348	47	4	653	4	FBLN1	22	45929029	Missense_Mutation	SNP	G	TCGA-CV-7423-01A-11D-2078-08	4176225	45929029	5375537	85	55969											
RBBP7	5931	broad.mit.edu	37	chrX	16887232	16887232	+	Missense_Mutation	SNP	C	C	A																															gaagccactgaacggtaagaCtgggccactgaagagcatgg																										TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:16887232C>A	ENST00000380087.2	-	2	488	c.128G>T	c.(127-129)aGt>aTt	p.S43I	RBBP7_ENST00000380084.4_Missense_Mutation_p.S87I|RBBP7_ENST00000404022.1_Missense_Mutation_p.S43I			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	43					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AACGGTAAGACTGGGCCACTG	0.403													8	28					1.12685e-05	1.21353e-05	1	0	A	16887232	C	A	16887232	3	1	314	1	0	0	0	0	1	0	0	0	13186	565	20	4	1193	4	RBBP7	23	16887232	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08		16887232	138383328	86	55970	454	2									
RBBP7	5931	broad.mit.edu	37	chrX	16887237	16887237	+	Missense_Mutation	SNP	C	C	G																															cactgaacggtaagactgggCcactgaagagcatgggtcat																										TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:16887237C>G	ENST00000380087.2	-	2	483	c.123G>C	c.(121-123)tgG>tgC	p.W41C	RBBP7_ENST00000380084.4_Missense_Mutation_p.W85C|RBBP7_ENST00000404022.1_Missense_Mutation_p.W41C			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	41					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TAAGACTGGGCCACTGAAGAG	0.393													10	27					0	0	0	0	G	16887237	C	G	16887237	3	3	314	1	0	0	0	0	1	0	0	0	13186	740	26	4	1198	4	RBBP7	23	16887237	Missense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	5	16887237	138383323	87	55971	454	2									
DGKK	139189	broad.mit.edu	37	chrX	50119144	50119144	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagacacatgctggtggAtcttgctcaggtcattaagt	10	11	12	8	0	3	1	2	0	1	1	3	3	3	3	0	4	2	2	0	4	1	2			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:50119144A>T	ENST00000376025.2	-	0	3351							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGCTGGTGGATCTTGCTCAG	0.478													6	4					0	0	0	0	T	50119144	A	T	50119144	1	4	314	0	1	0	0	0	0	0	0	0	4509	333	12	5		5	DGKK	23	50119144	RNA	SNP	A	TCGA-CV-7423-01A-11D-2078-08	33231907	50119144	105151416	88	55972											
KLHL4	56062	broad.mit.edu	37	chrX	86877396	86877396	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggggatgctgctttcttaCatcagactgccattactccc	7	13	8	13	0	2	1	1	0	1	1	3	2	3	2	2	2	5	2	2	2	2	3			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:86877396C>A	ENST00000373119.4	+	5	1255	c.1110C>A	c.(1108-1110)taC>taA	p.Y370*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.Y370*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	370						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGCTTTCTTACATCAGACTGC	0.413													10	34					0.00010058	0.00010528	1	0	A	86877396	C	A	86877396	4	1	314	1	0	0	0	0	0	1	0	0	8443	489	17	4	1128	4	KLHL4	23	86877396	Nonsense_Mutation	SNP	C	TCGA-CV-7423-01A-11D-2078-08	36758252	86877396	68393164	89	55973											
KLHDC7A	127707	broad.mit.edu	37	chr1	18808991	18808991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccccaaggaagactccGgcggcctctgttgctatgac	7	9	12	13	2	1	2	0	1	1	1	2	3	2	3	4	3	2	2	4	3	3	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:18808991G>A	ENST00000400664.1	+	1	1568	c.1516G>A	c.(1516-1518)Ggc>Agc	p.G506S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	506						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGACTCCGGCGGCCTCTG	0.697													11	54					0	0	0	0	A	18808991	G	A	18808991	3	1	315	1	0	0	0	0	1	0	0	0	8412	1116	39	1	1518	1	KLHDC7A	1	18808991	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08		18808991	230441630	1	55974											
ZMYM4	9202	broad.mit.edu	37	chr1	35881288	35881288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catatctgaggttcttcccaCctttacagaagcaggagtca	11	11	8	11	0	3	2	1	1	2	1	4	3	4	3	2	2	2	2	2	2	3	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:35881288C>T	ENST00000314607.6	+	28	4362	c.4282C>T	c.(4282-4284)Cct>Tct	p.P1428S	ZMYM4_ENST00000373297.2_Missense_Mutation_p.P1339S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1428					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTCTTCCCACCTTTACAGAA	0.428													21	34					0	0	0	0	T	35881288	C	T	35881288	3	4	315	1	0	0	0	0	1	0	0	0	17797	507	18	4	4392	4	ZMYM4	1	35881288	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	17072297	35881288	213369333	2	55975											
LRP8	7804	broad.mit.edu	37	chr1	53746315	53746316	+	Frame_Shift_Ins	INS	-	-	A																															gtccttctccccgtcgcagcINSgccacgaggcaggtacacac																								rs146690956		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:53746315_53746316insA	ENST00000306052.6	-	4	540_541	c.439_440insT	c.(439-441)ctgfs	p.L147fs	LRP8_ENST00000347547.2_Frame_Shift_Ins_p.L147fs|LRP8_ENST00000354412.3_Frame_Shift_Ins_p.L147fs|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Frame_Shift_Ins_p.L147fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	147	LDL-receptor class A 3.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCCGTCGCAGCGCCACGAGGCA	0.614													12	42	---	---	---	---					A	53746316	-	A	53746315	7	5	315	1	0	1	1	0	0	0	0	0	9027	768	27	0	2515	0	LRP8	1	53746315	Frame_Shift_Ins	INS	-	TCGA-CV-7424-01A-11D-2078-08	17865027	53746315	195504306	3	55976											
ACADM	34	broad.mit.edu	37	chr1	76205698	76205698	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaacctggagcaggctctGatgtagctggtataaagacc	12	8	12	9	0	1	3	0	1	1	2	1	4	1	4	2	3	3	5	2	3	5	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:76205698G>A	ENST00000543667.1	+	0	253				ACADM_ENST00000370834.5_Missense_Mutation_p.D201N|ACADM_ENST00000370841.4_Missense_Mutation_p.D168N|ACADM_ENST00000541113.1_Missense_Mutation_p.D132N|ACADM_ENST00000420607.2_Missense_Mutation_p.D172N			P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain						carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						AGCAGGCTCTGATGTAGCTGG	0.338													18	11					0	0	0	0	A	76205698	G	A	76205698	1	1	315	1	0	0	0	0	0	0	0	0	113	1290	45	2		2	ACADM	1	76205698	Translation_Start_Site	SNP	G	TCGA-CV-7424-01A-11D-2078-08	22459383	76205698	173044923	4	55977											
ELTD1	64123	broad.mit.edu	37	chr1	79357299	79357299	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagctgtaaccactgatgcGtgcacaacatggagaacccc	13	7	9	12	1	0	2	0	1	0	1	0	3	0	2	3	1	6	3	3	1	4	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:79357299G>A	ENST00000370742.3	-	14	1983	c.1920C>T	c.(1918-1920)caC>caT	p.H640H		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	640					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CCACTGATGCGTGCACAACAT	0.448													20	29					0	0	0	0	A	79357299	G	A	79357299	2	1	315	1	0	0	0	0	0	0	0	1	5122	1136	40	1		1	ELTD1	1	79357299	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	3151601	79357299	169893322	5	55978											
HIPK1	204851	broad.mit.edu	37	chr1	114499787	114499787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggagatctgcaagcggaGggttcacatgtatgatacag	12	9	13	7	1	2	2	1	1	1	1	2	4	2	3	0	3	3	3	0	3	3	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:114499787G>A	ENST00000369558.1	+	7	1866	c.1634G>A	c.(1633-1635)aGg>aAg	p.R545K	HIPK1_ENST00000369553.1_Missense_Mutation_p.R151K|HIPK1_ENST00000426820.2_Missense_Mutation_p.R545K|HIPK1_ENST00000340480.4_Missense_Mutation_p.R171K|HIPK1_ENST00000406344.1_Missense_Mutation_p.R151K|HIPK1_ENST00000369554.2_Missense_Mutation_p.R545K|HIPK1_ENST00000369555.2_Missense_Mutation_p.R545K|HIPK1_ENST00000369559.4_Missense_Mutation_p.R545K|HIPK1_ENST00000369561.4_Missense_Mutation_p.R545K			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCAAGCGGAGGGTTCACATG	0.388													26	26					0	0	0	0	A	114499787	G	A	114499787	3	1	315	1	0	0	0	0	1	0	0	0	7166	1000	35	4	1674	4	HIPK1	1	114499787	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	35142488	114499787	134750834	6	55979											
PI4KB	5298	broad.mit.edu	37	chr1	151274435	151274435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgtagggggagccctctCtgatccgcctgtgaagacag	7	7	15	12	2	1	3	0	2	1	1	3	4	2	4	4	3	1	1	4	3	2	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:151274435C>T	ENST00000368875.2	-	9	2250	c.1670G>A	c.(1669-1671)aGa>aAa	p.R557K	PI4KB_ENST00000368873.1_Missense_Mutation_p.R545K|PI4KB_ENST00000529142.1_Missense_Mutation_p.R213K|PI4KB_ENST00000368872.1_Missense_Mutation_p.R530K|PI4KB_ENST00000368874.4_Missense_Mutation_p.R530K|PI4KB_ENST00000271657.5_Missense_Mutation_p.R557K	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	545					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGAGCCCTCTCTGATCCGCCT	0.547													11	50					0	0	0	0	T	151274435	C	T	151274435	3	4	315	1	0	0	0	0	1	0	0	0	11946	913	32	2	836	2	PI4KB	1	151274435	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	36774648	151274435	97976186	7	55980											
TDRKH	11022	broad.mit.edu	37	chr1	151751319	151751319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcagtcggctccatgctaGaactggtgtttttccataat	8	14	10	9	1	0	1	0	0	0	1	3	1	2	1	2	2	3	4	2	2	3	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:151751319G>C	ENST00000368822.1	-	6	1358	c.725C>G	c.(724-726)tCt>tGt	p.S242C	TDRKH_ENST00000368827.6_Missense_Mutation_p.S242C|TDRKH_ENST00000368824.3_Missense_Mutation_p.S242C|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Missense_Mutation_p.S197C|TDRKH_ENST00000440583.2_Missense_Mutation_p.S18C|TDRKH_ENST00000368823.1_Missense_Mutation_p.S238C|TDRKH_ENST00000458431.2_Missense_Mutation_p.S242C			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	242							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCATGCTAGAACTGGTGTT	0.542													17	100					0	0	0	0	C	151751319	G	C	151751319	3	2	315	1	0	0	0	0	1	0	0	0	15831	942	33	2	992	2	TDRKH	1	151751319	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	476884	151751319	97499302	8	55981											
RPTN	126638	broad.mit.edu	37	chr1	152128205	152128208	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															catagtgggaactctggcctTgtctgtctgtctgaccatag																										TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:152128205_152128208delTGTC	ENST00000316073.3	-	3	1431_1434	c.1367_1370delGACA	c.(1366-1371)aafs	p.RQ456fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	456	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.52													8	1298	---	---	---	---					-	152128208	TGTC	-	152128205	7	5	315	1	0	1	0	1	0	0	0	0	13749	1812	63	0	988	0	RPTN	1	152128205	Frame_Shift_Del	DEL	TGTC	TCGA-CV-7424-01A-11D-2078-08	376886	152128205	97122416	9	55982											
SPTA1	6708	broad.mit.edu	37	chr1	158612629	158612629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttagtggcgtctttgtagGattcatcacaggctgtgggc	6	14	14	7	1	3	0	2	0	1	0	3	1	3	1	0	4	0	3	0	4	2	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:158612629G>T	ENST00000368148.3	-	32	4760	c.4580C>A	c.(4579-4581)tCc>tAc	p.S1527Y	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1527Y	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1527					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.S1527Y(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCTTTGTAGGATTCATCACA	0.443													27	98					1.08312e-15	1.23467e-15	1	0	T	158612629	G	T	158612629	3	4	315	1	0	0	0	0	1	0	0	0	15206	1174	41	2	2763	2	SPTA1	1	158612629	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	6484424	158612629	90637992	10	55983											
DNM3	26052	broad.mit.edu	37	chr1	172356476	172356476	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccccctccagtggatgaCtcctggatacagcactctcg	8	8	9	16	1	1	1	0	1	1	0	4	3	3	3	4	2	2	2	4	2	1	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:172356476C>T	ENST00000358155.4	+	19	2438	c.2262C>T	c.(2260-2262)gaC>gaT	p.D754D	DNM3_ENST00000367731.1_Silent_p.D750D|DNM3_ENST00000355305.5_Silent_p.D760D	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	760					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAGTGGATGACTCCTGGATAC	0.592													5	25					0	0	0	0	T	172356476	C	T	172356476	2	4	315	1	0	0	0	0	0	0	0	1	4709	564	20	4		4	DNM3	1	172356476	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08	13743847	172356476	76894145	11	55984											
RGL1	23179	broad.mit.edu	37	chr1	183891440	183891440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaccccgccgaggagtacGagctggtgcaggtcatctcg	8	6	14	13	4	2	1	1	0	1	1	3	4	2	2	3	3	3	3	3	3	1	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:183891440G>A	ENST00000304685.3	+	18	2655	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	RGL1_ENST00000360851.3_Missense_Mutation_p.E697K|RGL1_ENST00000367531.1_Missense_Mutation_p.E732K|RGL1_ENST00000536277.1_Missense_Mutation_p.E695K|RGL1_ENST00000539189.1_Missense_Mutation_p.E668K	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	697	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CGAGGAGTACGAGCTGGTGCA	0.572											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	29					0	0	0	0	A	183891440	G	A	183891440	3	1	315	1	0	0	0	0	1	0	0	0	13358	1059	37	1	2260	1	RGL1	1	183891440	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	11534964	183891440	65359181	12	55985											
TPR	7175	broad.mit.edu	37	chr1	186310164	186310164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttaactgcatttacctggTtacgtgctttccaacgtttg	7	18	7	9	2	0	0	0	0	0	0	1	0	1	0	2	1	6	4	2	1	4	7			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:186310164T>C	ENST00000367478.3	-	29	4312	c.4016A>G	c.(4015-4017)aAc>aGc	p.N1339S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1339					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATTTACCTGGTTACGTGCTTT	0.393			T	NTRK1	papillary thyroid								32	66					0	0	0	0	C	186310164	T	C	186310164	3	2	315	1	0	0	0	0	1	0	0	0	16511	1725	60	5	3167	5	TPR	1	186310164	Missense_Mutation	SNP	T	TCGA-CV-7424-01A-11D-2078-08	2418724	186310164	62940457	13	55986											
RGS21	431704	broad.mit.edu	37	chr1	192321331	192321331	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaattcattgaagctgaTgcacctaaagaggtgagtga	13	11	11	6	0	2	6	1	5	1	1	2	6	2	6	1	1	2	2	1	1	4	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:192321331T>C	ENST00000417209.2	+	4	417	c.243T>C	c.(241-243)gaT>gaC	p.D81D		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	81	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTGAAGCTGATGCACCTAAAG	0.378													21	19					0	0	0	0	C	192321331	T	C	192321331	2	2	315	1	0	0	0	0	0	0	0	1	13387	1461	51	5		5	RGS21	1	192321331	Silent	SNP	T	TCGA-CV-7424-01A-11D-2078-08	6011167	192321331	56929290	14	55987											
PLEKHA6	22874	broad.mit.edu	37	chr1	204228389	204228389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccggcatgcctcacctcCgaaggtcttcaggcgggggt	5	7	14	15	4	3	0	2	0	1	0	4	1	4	0	5	5	1	1	5	5	1	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:204228389C>T	ENST00000272203.3	-	8	1320	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R355Q	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	335	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCCTCACCTCCGAAGGTCTTC	0.617													6	33					0	0	0	0	T	204228389	C	T	204228389	3	4	315	1	0	0	0	0	1	0	0	0	12132	652	23	1	2202	1	PLEKHA6	1	204228389	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	11907058	204228389	45022232	15	55988											
RYR2	6262	broad.mit.edu	37	chr1	237664039	237664039	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtactgtaagctcaccAaaccaacatctgttaagaac	14	9	6	12	1	2	1	1	0	1	1	3	1	2	1	2	0	5	5	2	0	6	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:237664039A>G	ENST00000366574.2	+	21	2549	c.2232A>G	c.(2230-2232)ccA>ccG	p.P744P	RYR2_ENST00000360064.6_Silent_p.P742P|RYR2_ENST00000542537.1_Silent_p.P728P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	744	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAAGCTCACCAAACCAACATC	0.413													81	205					0	0	0	0	G	237664039	A	G	237664039	2	3	315	1	0	0	0	0	0	0	0	1	13854	117	5	5		5	RYR2	1	237664039	Silent	SNP	A	TCGA-CV-7424-01A-11D-2078-08	33435650	237664039	11586582	16	55989											
SDCCAG8	10806	broad.mit.edu	37	chr1	243437866	243437866	+	Missense_Mutation	SNP	A	A	T																															ggtcattagaacatgaggaaAccaatatgcctactatgcac																										TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:243437866A>T	ENST00000366541.3	+	4	446	c.328A>T	c.(328-330)Acc>Tcc	p.T110S	SDCCAG8_ENST00000391846.1_Missense_Mutation_p.T110S|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.T110S|SDCCAG8_ENST00000343783.6_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	110					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ACATGAGGAAACCAATATGCC	0.294													17	41					0	0	0	0	T	243437866	A	T	243437866	3	4	315	1	0	0	0	0	1	0	0	0	14046	43	2	5	342	5	SDCCAG8	1	243437866	Missense_Mutation	SNP	A	TCGA-CV-7424-01A-11D-2078-08	5773827	243437866	5812755	17	55990	455	2									
SDCCAG8	10806	broad.mit.edu	37	chr1	243437867	243437867	+	Missense_Mutation	SNP	C	C	T																															gtcattagaacatgaggaaaCcaatatgcctactatgcacg																										TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:243437867C>T	ENST00000366541.3	+	4	447	c.329C>T	c.(328-330)aCc>aTc	p.T110I	SDCCAG8_ENST00000391846.1_Missense_Mutation_p.T110I|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.T110I|SDCCAG8_ENST00000343783.6_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	110					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CATGAGGAAACCAATATGCCT	0.299													17	41					0	0	0	0	T	243437867	C	T	243437867	3	4	315	1	0	0	0	0	1	0	0	0	14046	507	18	4	343	4	SDCCAG8	1	243437867	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	1	243437867	5812754	18	55991	455	2									
NLRP3	114548	broad.mit.edu	37	chr1	247588430	247588430	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagacgtgacagtccttcTggaaaactatggcaaattcg	12	9	10	10	3	1	2	0	1	1	1	3	4	2	3	2	2	1	1	2	2	4	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:247588430T>G	ENST00000366497.2	+	4	2465	c.1685T>G	c.(1684-1686)cTg>cGg	p.L562R	NLRP3_ENST00000348069.2_Missense_Mutation_p.L562R|NLRP3_ENST00000391827.2_Missense_Mutation_p.L562R|NLRP3_ENST00000391828.3_Missense_Mutation_p.L562R|NLRP3_ENST00000336119.3_Missense_Mutation_p.L562R|NLRP3_ENST00000366496.2_Missense_Mutation_p.L562R|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	562					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACAGTCCTTCTGGAAAACTAT	0.478													9	48					0	0	0	0	G	247588430	T	G	247588430	3	3	315	1	0	0	0	0	1	0	0	0	10548	1580	55	5	1695	5	NLRP3	1	247588430	Missense_Mutation	SNP	T	TCGA-CV-7424-01A-11D-2078-08	4150563	247588430	1662191	19	55992											
OR2T4	127074	broad.mit.edu	37	chr1	248525602	248525602	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgtcctcatgctcctCatccctgtggtgatcatttc	4	16	8	13	0	3	1	3	1	0	0	7	1	6	1	3	1	2	2	3	1	0	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:248525602C>A	ENST00000366475.1	+	1	720	c.720C>A	c.(718-720)ctC>ctA	p.L240L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATGCTCCTCATCCCTGTGG	0.478													46	116					1.4374e-25	1.659e-25	1	0	A	248525602	C	A	248525602	2	1	315	1	0	0	0	0	0	0	0	1	11098	813	29	2		2	OR2T4	1	248525602	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08	937172	248525602	725019	20	55993											
MYT1L	23040	broad.mit.edu	37	chr2	1805525	1805525	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattggattcatttagctcCttgatttcttcatctaactg	9	18	6	8	0	4	1	2	1	2	0	5	3	5	2	1	1	2	1	1	1	3	8			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:1805525C>T	ENST00000399161.2	-	23	3966	c.3219G>A	c.(3217-3219)aaG>aaA	p.K1073K	MYT1L_ENST00000428368.2_Silent_p.K1071K|MYT1L_ENST00000407844.1_Silent_p.K69K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1073					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CATTTAGCTCCTTGATTTCTT	0.323													30	102					0	0	0	0	T	1805525	C	T	1805525	2	4	315	1	0	0	0	0	0	0	0	1	10177	680	24	4		4	MYT1L	2	1805525	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08		1805525	241393848	21	55994											
APOB	338	broad.mit.edu	37	chr2	21224689	21224689	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttttcagtaactccgtGatgtatatcagaaatgtgtg	11	15	9	6	1	2	2	2	1	0	1	3	2	3	2	1	0	2	3	1	0	4	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:21224689G>T	ENST00000233242.1	-	29	13732	c.13605C>A	c.(13603-13605)atC>atA	p.I4535I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4535					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTAACTCCGTGATGTATATCA	0.358													61	95					2.2129e-31	2.56474e-31	1	0	T	21224689	G	T	21224689	2	4	315	1	0	0	0	0	0	0	0	1	787	1280	45	2		2	APOB	2	21224689	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	19419164	21224689	221974684	22	55995											
CENPA	1058	broad.mit.edu	37	chr2	27016146	27016146	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgaggagggactcggctGagctcctgcacccagtgttt	6	10	13	12	1	0	2	0	2	0	0	2	4	1	4	3	3	2	4	3	3	0	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:27016146G>A	ENST00000335756.4	+	4	622	c.422G>A	c.(421-423)tGa>tAa	p.*141*	CENPA_ENST00000475662.1_3'UTR|CENPA_ENST00000233505.8_Silent_p.*115*	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	0					CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTCGGCTGAGCTCCTGCA	0.557													76	136					0	0	0	0	A	27016146	G	A	27016146	2	1	315	1	0	0	0	0	0	0	0	1	3255	1285	45	2		2	CENPA	2	27016146	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	5791457	27016146	216183227	23	55996											
XDH	7498	broad.mit.edu	37	chr2	31572647	31572647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtgaaaccctcaagcttCtggttgaagtgtgtcaggtc	10	11	12	8	0	3	2	2	2	1	0	4	2	3	2	1	3	2	2	1	3	4	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:31572647C>T	ENST00000379416.3	-	26	2922	c.2874G>A	c.(2872-2874)caG>caA	p.Q958Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	958					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCTCAAGCTTCTGGTTGAAGT	0.507													17	110					0	0	0	0	T	31572647	C	T	31572647	2	4	315	1	0	0	0	0	0	0	0	1	17522	912	32	2		2	XDH	2	31572647	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08	4556501	31572647	211626726	24	55997											
ALMS1	7840	broad.mit.edu	37	chr2	73678290	73678290	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggtagtcaaatacctgaaGaggctctcagagtttcttct	11	13	9	8	0	4	3	2	1	3	2	5	3	4	3	1	2	1	3	1	2	5	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:73678290G>C	ENST00000264448.6	+	8	4744	c.4633G>C	c.(4633-4635)Gag>Cag	p.E1545Q	ALMS1_ENST00000409009.1_Missense_Mutation_p.E1503Q|ALMS1_ENST00000377715.1_Missense_Mutation_p.E1545Q	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1545	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AATACCTGAAGAGGCTCTCAG	0.473													38	201					0	0	0	0	C	73678290	G	C	73678290	3	2	315	1	0	0	0	0	1	0	0	0	535	943	33	2	4663	2	ALMS1	2	73678290	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	42105643	73678290	169521083	25	55998											
DCTN1	1639	broad.mit.edu	37	chr2	74593384	74593384	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctaccttgctggggggcCgctctgcatcatactccccc	5	9	9	18	1	2	0	1	0	1	0	3	0	3	0	5	3	4	3	5	3	2	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:74593384C>G	ENST00000361874.3	-	23	3064	c.2747G>C	c.(2746-2748)cGg>cCg	p.R916P	DCTN1_ENST00000407639.2_Missense_Mutation_p.R782P|DCTN1_ENST00000409868.1_Missense_Mutation_p.R899P|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Missense_Mutation_p.R879P|DCTN1_ENST00000394003.3_Missense_Mutation_p.R909P|DCTN1_ENST00000409567.3_Missense_Mutation_p.R896P|DCTN1_ENST00000409438.1_Missense_Mutation_p.R782P	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	916					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCTGGGGGGCCGCTCTGCATC	0.562													28	87					0	0	0	0	G	74593384	C	G	74593384	3	3	315	1	0	0	0	0	1	0	0	0	4338	652	23	3	1129	3	DCTN1	2	74593384	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	915094	74593384	168605989	26	55999											
WDR54	84058	broad.mit.edu	37	chr2	74652067	74652067	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctggcggtcagggccAgaattcacattattgacccg	8	11	12	10	2	3	2	2	1	1	1	3	2	3	2	2	3	0	0	2	3	2	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:74652067A>T	ENST00000348227.4	+	7	688	c.600A>T	c.(598-600)ccA>ccT	p.P200P	WDR54_ENST00000409791.1_Silent_p.P148P|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	200										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GGTCAGGGCCAGAATTCACAT	0.522													32	90					0	0	0	0	T	74652067	A	T	74652067	2	4	315	1	0	0	0	0	0	0	0	1	17402	175	7	5		5	WDR54	2	74652067	Silent	SNP	A	TCGA-CV-7424-01A-11D-2078-08	58683	74652067	168547306	27	56000											
REG3A	5068	broad.mit.edu	37	chr2	79385808	79385808	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaggattttggtgacaaaAacaaggcatagcagtgggag	14	8	13	6	0	0	1	0	1	0	0	1	3	1	3	1	4	2	2	1	4	4	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:79385808A>T	ENST00000393878.1	-	2	418	c.164T>A	c.(163-165)tTt>tAt	p.F55Y	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.F55Y|REG3A_ENST00000409839.3_Missense_Mutation_p.F55Y	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	55	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TGGTGACAAAAACAAGGCATA	0.552													23	42					0	0	0	0	T	79385808	A	T	79385808	3	4	315	1	0	0	0	0	1	0	0	0	13294	14	1	5	379	5	REG3A	2	79385808	Missense_Mutation	SNP	A	TCGA-CV-7424-01A-11D-2078-08	4733741	79385808	163813565	28	56001											
PTCD3	55037	broad.mit.edu	37	chr2	86344259	86344259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accccaaatattttcagaagGacatagctgaacctcatata	16	10	5	10	0	2	2	2	1	0	1	2	3	2	3	3	1	2	1	3	1	7	6			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:86344259G>A	ENST00000254630.7	+	6	457	c.391G>A	c.(391-393)Gac>Aac	p.D131N	PTCD3_ENST00000465560.1_3'UTR|PTCD3_ENST00000409277.3_Missense_Mutation_p.D131N	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	131						mitochondrion	protein binding	p.D131N(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TTTTCAGAAGGACATAGCTGA	0.313													23	36					0	0	0	0	A	86344259	G	A	86344259	3	1	315	1	0	0	0	0	1	0	0	0	12808	1174	41	2	413	2	PTCD3	2	86344259	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	6958451	86344259	156855114	29	56002											
SMYD1	150572	broad.mit.edu	37	chr2	88405860	88405860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaggttgtgaaattatgccGggagtgcctggagaagcagg	10	9	16	6	1	0	2	0	1	0	1	0	4	0	3	2	4	3	2	2	4	4	3	rs114851602	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:88405860G>A	ENST00000419482.2	+	8	1083	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	SMYD1_ENST00000444564.2_Missense_Mutation_p.R320Q|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R333Q(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AAATTATGCCGGGAGTGCCTG	0.522													15	46					0	0	0	0	A	88405860	G	A	88405860	3	1	315	1	0	0	0	0	1	0	0	0	14909	1116	39	1	1028	1	SMYD1	2	88405860	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	2061601	88405860	154793513	30	56003											
TRIM43	129868	broad.mit.edu	37	chr2	96260835	96260835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgaggattttatggaaaaAgattcaagaaaatcagagaa	21	9	9	2	0	2	4	2	1	0	3	2	7	2	6	0	2	0	0	0	2	8	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:96260835A>G	ENST00000272395.2	+	3	585	c.449A>G	c.(448-450)aAg>aGg	p.K150R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	150						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						TTATGGAAAAAGATTCAAGAA	0.403													24	31					0	0	0	0	G	96260835	A	G	96260835	3	3	315	1	0	0	0	0	1	0	0	0	16613	72	3	5	455	5	TRIM43	2	96260835	Missense_Mutation	SNP	A	TCGA-CV-7424-01A-11D-2078-08	7854975	96260835	146938538	31	56004											
RANBP2	5903	broad.mit.edu	37	chr2	109392196	109392196	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctctttgcagaaatctcaGacagaagaaataactagcac	16	9	6	10	0	2	4	1	0	2	4	4	4	3	4	1	0	3	2	1	0	5	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:109392196G>C	ENST00000283195.6	+	24	8427	c.8301G>C	c.(8299-8301)caG>caC	p.Q2767H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2767					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGAAATCTCAGACAGAAGAAA	0.343													15	88					0	0	0	0	C	109392196	G	C	109392196	3	2	315	1	0	0	0	0	1	0	0	0	13110	933	33	2	8395	2	RANBP2	2	109392196	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	13131361	109392196	133807177	32	56005											
CNTNAP5	129684	broad.mit.edu	37	chr2	125504962	125504962	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacgctgacaaggatgaatGgtaatgagaatctccatctt	13	10	10	8	2	2	3	0	3	2	1	3	6	2	4	1	2	0	2	1	2	4	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:125504962G>T	ENST00000431078.1	+	14	2595	c.2231_splice	c.e14+1	p.W744_splice		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	744	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAGGATGAATGGTAATGAGAA	0.458													29	82					1.99505e-19	2.29307e-19	1	0	T	125504962	G	T	125504962	5	4	315	1	0	0	0	0	0	0	1	0	3680	1362	47	4	2285	4	CNTNAP5	2	125504962	Splice_Site	SNP	G	TCGA-CV-7424-01A-11D-2078-08	16112766	125504962	117694411	33	56006											
LRP1B	53353	broad.mit.edu	37	chr2	141751681	141751681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctccagctttacatatgtGaggtagtgcttctccaggat	8	14	9	10	0	2	1	0	1	2	0	4	2	2	2	2	2	3	3	2	2	3	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:141751681G>A	ENST00000389484.3	-	16	3498	c.2527C>T	c.(2527-2529)Cac>Tac	p.H843Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	843					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTACATATGTGAGGTAGTGCT	0.408										TSP Lung(27;0.18)			18	57					0	0	0	0	A	141751681	G	A	141751681	3	1	315	1	0	0	0	0	1	0	0	0	9019	1290	45	2	11576	2	LRP1B	2	141751681	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	16246719	141751681	101447692	34	56007											
HOXD13	3239	broad.mit.edu	37	chr2	176958202	176958202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaggtatccttctaccaggGctatacgagcccttaccagc	9	9	10	13	1	1	0	0	0	1	0	2	2	2	1	4	3	5	2	4	3	5	6			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:176958202G>A	ENST00000392539.3	+	1	584	c.584G>A	c.(583-585)gGc>gAc	p.G195D		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	195					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TTCTACCAGGGCTATACGAGC	0.622			T	NUP98	AML*								11	71					0	0	0	0	A	176958202	G	A	176958202	3	1	315	1	0	0	0	0	1	0	0	0	7372	1203	42	4	586	4	HOXD13	2	176958202	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	35206521	176958202	66241171	35	56008											
HOXD4	3233	broad.mit.edu	37	chr2	177016735	177016735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcagccgccctccgggaCggcactcaagcagccggccg	8	2	13	18	5	1	0	1	0	0	0	2	1	2	1	5	3	4	3	5	3	2	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:177016735C>T	ENST00000306324.3	+	1	786	c.374C>T	c.(373-375)aCg>aTg	p.T125M	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCCTCCGGGACGGCACTCAAG	0.682													5	28					0	0	0	0	T	177016735	C	T	177016735	3	4	315	1	0	0	0	0	1	0	0	0	7374	536	19	1	376	1	HOXD4	2	177016735	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	58533	177016735	66182638	36	56009											
NFE2L2	4780	broad.mit.edu	37	chr2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcgacttactccaagatCtatatcttgcctccaaagta	11	14	4	12	1	3	1	0	0	3	1	6	2	5	1	3	0	2	1	3	0	6	6			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			6	56					0	0	0	0	G	178098960	C	G	178098960	3	3	315	1	0	0	0	0	1	0	0	0	10438	913	32	2	1748	2	NFE2L2	2	178098960	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	1082225	178098960	65100413	37	56010											
ZNF804A	91752	broad.mit.edu	37	chr2	185801912	185801912	+	Frame_Shift_Del	DEL	A	A	-																															tccataaaagtagaagaaagAaaaaaagaaaaaagttatgt																										TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:185801912delA	ENST00000302277.6	+	4	2383	c.1789delA	c.(1789-1791)aafs	p.K598fs		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	598						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAGAAGAAAGAAAAAAAGAAA	0.323													13	89	---	---	---	---					-	185801912	A	-	185801912	7	5	315	1	0	1	0	1	0	0	0	0	18263	247	9	0	1803	0	ZNF804A	2	185801912	Frame_Shift_Del	DEL	A	TCGA-CV-7424-01A-11D-2078-08	7702952	185801912	57397461	38	56011											
DNAH7	56171	broad.mit.edu	37	chr2	196866401	196866401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaactgaaccatacttactgGgggttgtgcaattaagtccg	11	11	11	8	1	0	1	0	1	0	0	1	2	1	1	2	2	5	2	2	2	6	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:196866401G>A	ENST00000312428.6	-	11	1271	c.1171C>T	c.(1171-1173)Cca>Tca	p.P391S	DNAH7_ENST00000410072.1_Missense_Mutation_p.P391S	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	391	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATACTTACTGGGGGTTGTGCA	0.368													21	56					0	0	0	0	A	196866401	G	A	196866401	3	1	315	1	0	0	0	0	1	0	0	0	4642	1232	43	4	11123	4	DNAH7	2	196866401	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	11064489	196866401	46332972	39	56012											
CLK1	1195	broad.mit.edu	37	chr2	201722606	201722606	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaacatctggacacagcGgctacaaacacatgaaaaat	17	7	6	11	1	1	1	0	1	1	0	2	2	2	2	1	2	4	1	1	2	5	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:201722606G>A	ENST00000434813.2	-	7	1127	c.791_splice	c.e7-1	p.R265_splice	CLK1_ENST00000321356.4_Splice_Site_p.R223_splice|CLK1_ENST00000409769.2_Splice_Site_p.R46_splice	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	223	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGGACACAGCGGCTACAAACA	0.353													19	193					0	0	0	0	A	201722606	G	A	201722606	5	1	315	1	0	0	0	0	0	0	1	0	3566	1130	39	1	815	1	CLK1	2	201722606	Splice_Site	SNP	G	TCGA-CV-7424-01A-11D-2078-08	4856205	201722606	41476767	40	56013											
ING5	84289	broad.mit.edu	37	chr2	242650891	242650891	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgaaagctccggagggCgagggttaaaaagcaagtct	13	9	13	6	2	1	1	0	1	1	0	2	3	2	2	1	3	2	3	1	3	5	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:242650891C>T	ENST00000313552.6	+	4	402	c.376C>T	c.(376-378)Cga>Tga	p.R126*	ING5_ENST00000406941.1_Nonsense_Mutation_p.R126*|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	126					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTCCGGAGGGCGAGGGTTAAA	0.398													10	56					0	0	0	0	T	242650891	C	T	242650891	4	4	315	1	0	0	0	0	0	1	0	0	7792	760	27	1	390	1	ING5	2	242650891	Nonsense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	40928285	242650891	548482	41	56014											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37033161	37033161	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaaaatgtctctcaaattCtttttggagacgacagatca	13	14	6	8	1	4	2	2	0	2	2	5	4	4	2	0	1	0	0	0	1	3	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:37033161C>G	ENST00000322716.5	-	1	1634	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	470						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CTCTCAAATTCTTTTTGGAGA	0.328													3	21					0	0	0	0	G	37033161	C	G	37033161	3	3	315	1	0	0	0	0	1	0	0	0	5222	922	32	2	419	2	EPM2AIP1	3	37033161	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08		37033161	160989269	42	56015											
EPHA6	285220	broad.mit.edu	37	chr3	96706569	96706569	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggattttatctggctttTcaagacattggggcgtgcat	10	14	11	6	1	2	1	1	0	1	1	2	2	2	2	0	4	1	2	0	4	3	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:96706569T>A	ENST00000389672.5	+	3	884	c.846T>A	c.(844-846)ttT>ttA	p.F282L	EPHA6_ENST00000470610.2_Missense_Mutation_p.F282L|EPHA6_ENST00000542517.1_Missense_Mutation_p.F188L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	187						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATCTGGCTTTTCAAGACATTG	0.453													52	472					0	0	0	0	A	96706569	T	A	96706569	3	1	315	1	0	0	0	0	1	0	0	0	5209	1780	62	5	856	5	EPHA6	3	96706569	Missense_Mutation	SNP	T	TCGA-CV-7424-01A-11D-2078-08	59673408	96706569	101315861	43	56016											
GSK3B	2932	broad.mit.edu	37	chr3	119642255	119642255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agggagcgtctgtttggctcGactatagtgtctggcaactc	7	12	13	9	2	2	0	0	0	2	0	4	2	2	1	0	3	2	3	0	3	3	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:119642255G>C	ENST00000264235.8	-	4	1424	c.442C>G	c.(442-444)Cga>Gga	p.R148G	GSK3B_ENST00000316626.5_Missense_Mutation_p.R148G	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	148	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TGTTTGGCTCGACTATAGTGT	0.358													3	25					0	0	0	0	C	119642255	G	C	119642255	3	2	315	1	0	0	0	0	1	0	0	0	6874	1066	37	3	895	3	GSK3B	3	119642255	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	22935686	119642255	78380175	44	56017											
ITGB5	3693	broad.mit.edu	37	chr3	124540208	124540208	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctcgttcaggtggcactgGccatcgtgtggctgcaccag	5	9	14	13	2	1	0	1	0	0	0	3	0	1	0	3	4	1	4	3	4	0	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:124540208G>A	ENST00000296181.4	-	6	1190	c.894C>T	c.(892-894)ggC>ggT	p.G298G	ITGB5_ENST00000488466.1_Intron	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	298	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GGTGGCACTGGCCATCGTGTG	0.572													4	62					0	0	0	0	A	124540208	G	A	124540208	2	1	315	1	0	0	0	0	0	0	0	1	7951	1190	42	4		4	ITGB5	3	124540208	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	4897953	124540208	73482222	45	56018											
NPHP3	27031	broad.mit.edu	37	chr3	132435688	132435688	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgctgaagctggatcaTgcttcctatggaaggttcac	9	11	12	9	0	2	1	2	1	0	0	3	4	3	4	1	4	3	4	1	4	3	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:132435688T>C	ENST00000326682.8	-	4	812	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	NPHP3_ENST00000337331.5_Missense_Mutation_p.M246V			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	246					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTGGATCATGCTTCCTATG	0.458													24	105					0	0	0	0	C	132435688	T	C	132435688	3	2	315	1	0	0	0	0	1	0	0	0	10650	1464	51	5	3352	5	NPHP3	3	132435688	Missense_Mutation	SNP	T	TCGA-CV-7424-01A-11D-2078-08	7895480	132435688	65586742	46	56019											
SLC9A9	285195	broad.mit.edu	37	chr3	143082405	143082405	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttatccaagttatttgcttCctggggagaaacaatagaaa	14	13	8	6	0	0	2	0	0	0	2	2	3	2	2	2	2	2	2	2	2	7	6			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:143082405C>A	ENST00000316549.6	-	14	1733	c.1524_splice	c.e14-1	p.E509_splice		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	509					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTATTTGCTTCCTGGGGAGAA	0.318													14	117					9.31168e-06	9.92052e-06	1	0	A	143082405	C	A	143082405	5	1	315	1	0	0	0	0	0	0	1	0	14809	869	30	2	424	2	SLC9A9	3	143082405	Splice_Site	SNP	C	TCGA-CV-7424-01A-11D-2078-08	10646717	143082405	54940025	47	56020											
PLOD2	5352	broad.mit.edu	37	chr3	145809656	145809656	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatcctgtgtccatgaattGggtacatagtttccaaaata	12	15	7	7	0	0	1	0	1	0	0	3	1	3	1	3	1	1	2	3	1	7	6			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:145809656G>T	ENST00000282903.5	-	8	987	c.810C>A	c.(808-810)ccC>ccA	p.P270P	PLOD2_ENST00000360060.3_Silent_p.P270P|PLOD2_ENST00000494950.1_Silent_p.P215P|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	270					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCCATGAATTGGGTACATAGT	0.373													6	70					0.00116845	0.00119432	1	0	T	145809656	G	T	145809656	2	4	315	1	0	0	0	0	0	0	0	1	12174	1335	47	4		4	PLOD2	3	145809656	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	2727251	145809656	52212774	48	56021											
VEPH1	79674	broad.mit.edu	37	chr3	157081226	157081227	+	Frame_Shift_Ins	INS	-	-	T																															atgctttcactttgctgaggINStttttttttaagtgcaagta																										TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:157081226_157081227insT	ENST00000362010.2	-	9	1968_1969	c.1661_1662insA	c.(1660-1662)actfs	p.T554fs	VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.T554fs|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.T554fs	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTTGCTGAGGTTTTTTTTTAA	0.396													7	345	---	---	---	---					T	157081227	-	T	157081226	7	5	315	1	0	1	1	0	0	0	0	0	17250	1252	44	0	863	0	VEPH1	3	157081226	Frame_Shift_Ins	INS	-	TCGA-CV-7424-01A-11D-2078-08	11271570	157081226	40941204	49	56022											
OTOL1	131149	broad.mit.edu	37	chr3	161221227	161221227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggacctactgggccgaagGgtgacattggcaacaaaggg	11	6	16	8	1	0	1	0	1	0	0	0	3	0	2	2	5	2	1	2	5	4	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:161221227G>A	ENST00000327928.4	+	4	931	c.931G>A	c.(931-933)Ggt>Agt	p.G311S		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	311	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TGGGCCGAAGGGTGACATTGG	0.597													20	26					0	0	0	0	A	161221227	G	A	161221227	3	1	315	1	0	0	0	0	1	0	0	0	11375	1232	43	4	945	4	OTOL1	3	161221227	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	4140001	161221227	36801203	50	56023											
SI	6476	broad.mit.edu	37	chr3	164773033	164773033	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaatactgcattcattTgcccaccaatcaatgcagtt	13	12	6	10	0	2	0	2	0	0	0	2	1	2	1	2	1	4	3	2	1	5	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:164773033T>G	ENST00000264382.3	-	13	1523	c.1461A>C	c.(1459-1461)gcA>gcC	p.A487A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	487	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCATTCATTTGCCCACCAAT	0.343										HNSCC(35;0.089)			65	77					0	0	0	0	G	164773033	T	G	164773033	2	3	315	1	0	0	0	0	0	0	0	1	14385	1799	63	5		5	SI	3	164773033	Silent	SNP	T	TCGA-CV-7424-01A-11D-2078-08	3551806	164773033	33249397	51	56024											
SI	6476	broad.mit.edu	37	chr3	164783161	164783161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatataatcacttggaagaCgggttgagatctgtaagtac	15	11	10	5	1	2	2	1	1	1	2	2	4	2	3	0	2	1	3	0	2	6	6			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:164783161C>T	ENST00000264382.3	-	7	757	c.695G>A	c.(694-696)cGt>cAt	p.R232H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	232	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACTTGGAAGACGGGTTGAGAT	0.353										HNSCC(35;0.089)			8	63					0	0	0	0	T	164783161	C	T	164783161	3	4	315	1	0	0	0	0	1	0	0	0	14385	536	19	1	4956	1	SI	3	164783161	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	10128	164783161	33239269	52	56025											
SKIL	6498	broad.mit.edu	37	chr3	170099035	170099035	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatgtttttctgcagacaGatgcaccatcaggaatggaa	12	11	9	9	0	2	2	1	0	1	2	3	4	3	4	2	2	2	3	2	2	2	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:170099035G>C	ENST00000458537.3	+	2	1811	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	SKIL_ENST00000259119.4_Missense_Mutation_p.D368H|SKIL_ENST00000413427.2_Missense_Mutation_p.D368H|SKIL_ENST00000426052.2_Missense_Mutation_p.D348H	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	368					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCTGCAGACAGATGCACCATC	0.403													14	177					0	0	0	0	C	170099035	G	C	170099035	3	2	315	1	0	0	0	0	1	0	0	0	14446	942	33	2	1108	2	SKIL	3	170099035	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	5315874	170099035	27923395	53	56026											
PIK3CA	5290	broad.mit.edu	37	chr3	178916836	178916836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acattttcgtaagtgttactCaagaagcagaaagggaagaa	17	9	10	5	1	1	3	1	0	0	3	2	4	1	4	0	1	2	3	0	1	7	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:178916836C>G	ENST00000263967.3	+	2	380	c.223C>G	c.(223-225)Caa>Gaa	p.Q75E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	75	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q75E(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAGTGTTACTCAAGAAGCAGA	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			38	178					0	0	0	0	G	178916836	C	G	178916836	3	3	315	1	0	0	0	0	1	0	0	0	11985	827	29	2	225	2	PIK3CA	3	178916836	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	8817801	178916836	19105594	54	56027											
ETV5	2119	broad.mit.edu	37	chr3	185774946	185774946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggctgggtcatcaagaaggGtgaccaggaactgccacagc	11	6	14	10	0	2	2	2	1	0	1	2	3	2	3	2	4	3	1	2	4	3	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:185774946G>A	ENST00000306376.5	-	11	1373	c.1127C>T	c.(1126-1128)aCc>aTc	p.T376I	ETV5_ENST00000537818.1_Missense_Mutation_p.T418I|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.T376I	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	376					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATCAAGAAGGGTGACCAGGAA	0.552			T	"TMPRSS2, SCL45A3"	Prostate								34	127					0	0	0	0	A	185774946	G	A	185774946	3	1	315	1	0	0	0	0	1	0	0	0	5320	1261	44	4	417	4	ETV5	3	185774946	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	6858110	185774946	12247484	55	56028											
CTBP1	1487	broad.mit.edu	37	chr4	1222118	1222118	+	Missense_Mutation	SNP	G	G	A																															ggtacatcagggcccccacaGcctcgttcaggacctgcagc																										TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:1222118G>A	ENST00000382952.3	-	4	560	c.176C>T	c.(175-177)gCt>gTt	p.A59V	CTBP1_ENST00000290921.6_Missense_Mutation_p.A70V	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	70	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGCCCCCACAGCCTCGTTCAG	0.622													4	59					0	0	0	0	A	1222118	G	A	1222118	3	1	315	1	0	0	0	0	1	0	0	0	4029	971	34	4	1141	4	CTBP1	4	1222118	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08		1222118	189932158	56	56029	456	2									
CTBP1	1487	broad.mit.edu	37	chr4	1222119	1222119	+	Missense_Mutation	SNP	C	C	A																															gtacatcagggcccccacagCctcgttcaggacctgcagcg																										TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:1222119C>A	ENST00000382952.3	-	4	559	c.175G>T	c.(175-177)Gct>Tct	p.A59S	CTBP1_ENST00000290921.6_Missense_Mutation_p.A70S	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	70	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GCCCCCACAGCCTCGTTCAGG	0.617													4	59					0.000602214	0.000620124	1	0	A	1222119	C	A	1222119	3	1	315	1	0	0	0	0	1	0	0	0	4029	739	26	4	1142	4	CTBP1	4	1222119	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	1	1222119	189932157	57	56030	456	2									
ADD1	118	broad.mit.edu	37	chr4	2883674	2883674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaggagcaatttaagaaggGgaagaaccccacaggcctat	16	5	11	9	0	0	2	0	0	0	2	0	4	0	4	3	4	2	1	3	4	6	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:2883674G>A	ENST00000355842.3	+	4	1108	c.245G>A	c.(244-246)gGg>gAg	p.G82E	ADD1_ENST00000264758.7_Missense_Mutation_p.G82E|ADD1_ENST00000398125.1_Missense_Mutation_p.G82E|ADD1_ENST00000513328.2_Missense_Mutation_p.G82E|ADD1_ENST00000398129.1_Missense_Mutation_p.G82E|ADD1_ENST00000446856.1_Missense_Mutation_p.G82E|ADD1_ENST00000503455.2_Missense_Mutation_p.G82E|ADD1_ENST00000398123.2_Missense_Mutation_p.G82E			P35611	ADDA_HUMAN	adducin 1 (alpha)	82					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTTAAGAAGGGGAAGAACCCC	0.408													14	84					0	0	0	0	A	2883674	G	A	2883674	3	1	315	1	0	0	0	0	1	0	0	0	304	1232	43	4	251	4	ADD1	4	2883674	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	1661555	2883674	188270602	58	56031											
NKX3-2	579	broad.mit.edu	37	chr4	13545814	13545814	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgcagctgttctggtaccGgcaggagacgccagcagaga	9	5	14	13	3	1	2	0	0	1	2	1	4	1	2	3	3	3	6	3	3	1	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:13545814G>A	ENST00000382438.5	-	1	860	c.225C>T	c.(223-225)gcC>gcT	p.A75A		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	75					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TTCTGGTACCGGCAGGAGACG	0.731													6	9					0	0	0	0	A	13545814	G	A	13545814	2	1	315	1	0	0	0	0	0	0	0	1	10526	1103	39	1		1	NKX3-2	4	13545814	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	10662140	13545814	177608462	59	56032											
HSD17B13	345275	broad.mit.edu	37	chr4	88243866	88243866	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcctattccatgcccagctCcagtaatgagaacaatctcc	11	10	6	14	0	1	1	0	1	1	1	4	2	3	1	5	0	4	2	5	0	4	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:88243866C>G	ENST00000328546.4	-	1	192	c.128G>C	c.(127-129)gGa>gCa	p.G43A	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B13_ENST00000302219.6_Missense_Mutation_p.G43A	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	43						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		ATGCCCAGCTCCAGTAATGAG	0.423													5	92					0	0	0	0	G	88243866	C	G	88243866	3	3	315	1	0	0	0	0	1	0	0	0	7432	855	30	2	802	2	HSD17B13	4	88243866	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	74698052	88243866	102910410	60	56033											
PDLIM5	10611	broad.mit.edu	37	chr4	95496940	95496940	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccttcaccccagcccatgcGaccacctcatcacatgcttc	8	8	5	20	1	3	0	3	0	0	0	4	1	3	0	6	0	3	1	6	0	0	2	rs115743950	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:95496940G>A	ENST00000317968.4	+	5	601	c.465G>A	c.(463-465)gcG>gcA	p.A155A	PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000542407.1_Silent_p.A33A|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000508216.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	155					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	p.A155A(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CAGCCCATGCGACCACCTCAT	0.552													8	172					0	0	0	0	A	95496940	G	A	95496940	2	1	315	1	0	0	0	0	0	0	0	1	11754	1045	37	1		1	PDLIM5	4	95496940	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	7253074	95496940	95657336	61	56034											
BANK1	55024	broad.mit.edu	37	chr4	102984276	102984276	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattattgggaaaaggccAgaagaagaaaatgtctatag	17	9	11	4	0	1	3	0	0	1	3	1	4	1	4	1	2	1	1	1	2	9	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:102984276A>G	ENST00000504592.1	+	17	2566	c.2148A>G	c.(2146-2148)ccA>ccG	p.P716P	BANK1_ENST00000428908.1_Silent_p.P598P|BANK1_ENST00000444316.2_Silent_p.P701P|BANK1_ENST00000322953.4_Silent_p.P731P|BANK1_ENST00000508653.1_Silent_p.P598P			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	731					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)		GGAAAAGGCCAGAAGAAGAAA	0.358													6	47					0	0	0	0	G	102984276	A	G	102984276	2	3	315	1	0	0	0	0	0	0	0	1	1313	175	7	5		5	BANK1	4	102984276	Silent	SNP	A	TCGA-CV-7424-01A-11D-2078-08	7487336	102984276	88170000	62	56035											
GSTCD	79807	broad.mit.edu	37	chr4	106638773	106638773	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccaatgaaagaagaaaatGaaagccataaagaaaagtct	23	5	7	6	0	1	5	0	2	1	3	1	5	1	5	2	0	1	0	2	0	10	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:106638773G>A	ENST00000515279.1	+	2	223	c.3G>A	c.(1-3)atG>atA	p.M1I	GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000507281.1_Start_Codon_SNP_p.M1I|GSTCD_ENST00000360505.5_Start_Codon_SNP_p.M1I|GSTCD_ENST00000394728.3_Start_Codon_SNP_p.M1I|GSTCD_ENST00000394730.3_Start_Codon_SNP_p.M1I			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	1						cytoplasm	rRNA methyltransferase activity	p.M1I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AGAAGAAAATGAAAGCCATAA	0.313													8	35					0	0	0	0	A	106638773	G	A	106638773	1	1	315	1	0	0	0	0	0	0	0	0	6885	1290	45	2		2	GSTCD	4	106638773	Translation_Start_Site	SNP	G	TCGA-CV-7424-01A-11D-2078-08	3654497	106638773	84515503	63	56036											
SCLT1	132320	broad.mit.edu	37	chr4	129886441	129886441	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgcctatctgatgcttcCtctcttccatgggcagacac	9	11	7	14	1	2	2	0	1	2	1	5	2	4	2	3	1	2	2	3	1	2	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:129886441C>T	ENST00000281142.5	-	11	1313	c.810G>A	c.(808-810)gaG>gaA	p.E270E	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	270						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTGATGCTTCCTCTCTTCCAT	0.343													14	44					0	0	0	0	T	129886441	C	T	129886441	2	4	315	1	0	0	0	0	0	0	0	1	13993	680	24	4		4	SCLT1	4	129886441	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08	23247668	129886441	61267835	64	56037											
SH3RF1	57630	broad.mit.edu	37	chr4	170028206	170028206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgccatggccacctcCtggtggcagttcgggcccca	4	8	12	17	1	0	0	0	0	0	0	2	0	1	0	7	4	2	2	7	4	0	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:170028206C>T	ENST00000284637.9	-	11	2631	c.2290G>A	c.(2290-2292)Gga>Aga	p.G764R		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	764						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TGGCCACCTCCTGGTGGCAGT	0.672													13	31					0	0	0	0	T	170028206	C	T	170028206	3	4	315	1	0	0	0	0	1	0	0	0	14346	690	24	4	384	4	SH3RF1	4	170028206	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	40141765	170028206	21126070	65	56038											
C5orf38	153571	broad.mit.edu	37	chr5	2755277	2755277	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggacgcggccgactgagAaggccggggcgctcgccggg	5	2	21	13	8	0	1	0	1	0	1	1	4	0	2	3	7	0	1	3	7	1	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:2755277A>T	ENST00000397835.4	+	3	468	c.468A>T	c.(466-468)agA>agT	p.R156S	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	42						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GCCGACTGAGAAggccggggc	0.776													10	24					0	0	0	0	T	2755277	A	T	2755277	3	4	315	1	0	0	0	0	1	0	0	0	2317	261	9	5		5	C5orf38	5	2755277	Missense_Mutation	SNP	A	TCGA-CV-7424-01A-11D-2078-08		2755277	178159983	66	56039											
KIAA0947	23379	broad.mit.edu	37	chr5	5461296	5461296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaagatgatgactcaggtGatggaatggatgtagcaggg	13	8	16	4	0	1	5	1	3	0	2	1	7	1	7	0	4	1	2	0	4	3	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:5461296G>A	ENST00000296564.7	+	13	2071	c.1849G>A	c.(1849-1851)Gat>Aat	p.D617N		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	617										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGACTCAGGTGATGGAATGGA	0.418													46	85					0	0	0	0	A	5461296	G	A	5461296	3	1	315	1	0	0	0	0	1	0	0	0	8253	1290	45	2	1899	2	KIAA0947	5	5461296	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	2706019	5461296	175453964	67	56040											
PAPD7	11044	broad.mit.edu	37	chr5	6749698	6749698	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaatcatcaaagtaactCaggaggtgattgactaccgg	15	8	11	7	1	3	3	3	2	0	1	3	5	3	4	1	3	2	1	1	3	5	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:6749698C>T	ENST00000230859.6	+	9	994	c.865C>T	c.(865-867)Cag>Tag	p.Q289*		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	289					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAAAGTAACTCAGGAGGTGAT	0.488													35	153					0	0	0	0	T	6749698	C	T	6749698	4	4	315	1	0	0	0	0	0	1	0	0	11497	827	29	2	895	2	PAPD7	5	6749698	Nonsense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	1288402	6749698	174165562	68	56041											
DNAH5	1767	broad.mit.edu	37	chr5	13737360	13737360	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctttcattaccaaactcaCcaggtctgtattcctcccgg	8	13	6	14	1	4	0	2	0	2	0	6	0	6	0	4	2	2	1	4	2	3	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:13737360C>A	ENST00000265104.4	-	66	11560		c.e66+1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCAAACTCACCAGGTCTGTA	0.403									Kartagener syndrome				25	90					1.55469e-16	1.77955e-16	1	0	A	13737360	C	A	13737360	5	1	315	1	0	0	0	0	0	0	1	0	4641	521	18	4	2474	4	DNAH5	5	13737360	Splice_Site	SNP	C	TCGA-CV-7424-01A-11D-2078-08	6987662	13737360	167177900	69	56042											
DNAH5	1767	broad.mit.edu	37	chr5	13850873	13850873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgggcacttcatgtgcccGagtcatgatcttcacccaag	9	10	9	13	1	4	1	3	1	1	0	4	2	4	1	2	1	1	1	2	1	1	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:13850873G>A	ENST00000265104.4	-	31	5106	c.5002C>T	c.(5002-5004)Cgg>Tgg	p.R1668W		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1668	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATGTGCCCGAGTCATGATC	0.468									Kartagener syndrome				27	87					0	0	0	0	A	13850873	G	A	13850873	3	1	315	1	0	0	0	0	1	0	0	0	4641	1057	37	1	9068	1	DNAH5	5	13850873	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	113513	13850873	167064387	70	56043											
PRDM9	56979	broad.mit.edu	37	chr5	23526576	23526576	+	Missense_Mutation	SNP	C	C	A																															tcaagagatcaaagaaaggtCcaaactcttgaataaaagga																										TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:23526576C>A	ENST00000296682.3	+	11	1561	c.1379C>A	c.(1378-1380)tCc>tAc	p.S460Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	460					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGAAAGGTCCAAACTCTTG	0.468										HNSCC(3;0.000094)			6	47					0.217242	0.218029	1	0	A	23526576	C	A	23526576	3	1	315	1	0	0	0	0	1	0	0	0	12543	855	30	2	1417	2	PRDM9	5	23526576	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	9675703	23526576	157388684	71	56044	457	2									
PRDM9	56979	broad.mit.edu	37	chr5	23526577	23526577	+	Silent	SNP	C	C	A																															caagagatcaaagaaaggtcCaaactcttgaataaaaggac																										TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:23526577C>A	ENST00000296682.3	+	11	1562	c.1380C>A	c.(1378-1380)tcC>tcA	p.S460S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	460					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGAAAGGTCCAAACTCTTGA	0.463										HNSCC(3;0.000094)			6	46					0.217242	0.218029	1	0	A	23526577	C	A	23526577	2	1	315	1	0	0	0	0	0	0	0	1	12543	581	21	4		4	PRDM9	5	23526577	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08	1	23526577	157388683	72	56045	457	2									
TTC23L	153657	broad.mit.edu	37	chr5	34863073	34863073	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgacctggaaggcaaatacGacctcaaataaggagaaaga	18	6	10	7	1	1	3	1	1	0	2	1	6	1	4	2	3	1	1	2	3	6	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:34863073G>A	ENST00000505624.1	+	5	553	c.450G>A	c.(448-450)acG>acA	p.T150T	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	150			T -> M (in dbSNP:rs34566695).				binding	p.T150T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AGGCAAATACGACCTCAAATA	0.512													13	60					0	0	0	0	A	34863073	G	A	34863073	2	1	315	1	0	0	0	0	0	0	0	1	16787	1045	37	1		1	TTC23L	5	34863073	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	11336496	34863073	146052187	73	56046											
PRLR	5618	broad.mit.edu	37	chr5	35070259	35070259	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaggtcgctggactccAtgcactccagtatccatggt	10	10	10	11	1	0	1	0	1	0	0	4	2	3	2	3	3	1	3	3	3	3	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:35070259A>C	ENST00000382002.5	-	7	1078	c.652T>G	c.(652-654)Tgg>Ggg	p.W218G	PRLR_ENST00000342362.5_Missense_Mutation_p.W117G|PRLR_ENST00000231423.3_Missense_Mutation_p.W218G|PRLR_ENST00000513753.1_Missense_Mutation_p.W218G|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Missense_Mutation_p.W147G|PRLR_ENST00000511486.1_Missense_Mutation_p.W117G|PRLR_ENST00000542609.1_Missense_Mutation_p.W218G|PRLR_ENST00000310101.5_Missense_Mutation_p.W218G|PRLR_ENST00000348262.3_Missense_Mutation_p.W218G	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	218	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCTGGACTCCATGCACTCCAG	0.433													14	31					0	0	0	0	C	35070259	A	C	35070259	3	2	315	1	0	0	0	0	1	0	0	0	12611	217	8	5	1232	5	PRLR	5	35070259	Missense_Mutation	SNP	A	TCGA-CV-7424-01A-11D-2078-08	207186	35070259	145845001	74	56047											
C5orf42	65250	broad.mit.edu	37	chr5	37157808	37157808	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtgggggaacagcattagTaactgaagctgccatataat	14	10	11	6	0	0	1	0	1	0	0	0	2	0	2	1	2	5	3	1	2	6	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:37157808T>C	ENST00000274258.7	-	40	8202	c.4615A>G	c.(4615-4617)Act>Gct	p.T1539A	C5orf42_ENST00000425232.2_Missense_Mutation_p.T2641A|C5orf42_ENST00000508244.1_Missense_Mutation_p.T2641A			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2641										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)			ACAGCATTAGTAACTGAAGCT	0.328													15	68					0	0	0	0	C	37157808	T	C	37157808	3	2	315	1	0	0	0	0	1	0	0	0	2322	1638	57	5	1724	5	C5orf42	5	37157808	Missense_Mutation	SNP	T	TCGA-CV-7424-01A-11D-2078-08	2087549	37157808	143757452	75	56048											
WDR70	55100	broad.mit.edu	37	chr5	37379491	37379491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagcgctctgggcccagcGaaggtgggtttcatgaggcg	6	8	18	9	3	2	1	1	1	1	0	2	3	2	2	1	5	2	2	1	5	1	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:37379491G>A	ENST00000265107.4	+	1	178	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	WDR70_ENST00000504564.1_Missense_Mutation_p.E8K	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	8										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGCCCAGCGAAGGTGGGTT	0.642													45	125					0	0	0	0	A	37379491	G	A	37379491	3	1	315	1	0	0	0	0	1	0	0	0	17417	1059	37	1	24	1	WDR70	5	37379491	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	221683	37379491	143535769	76	56049											
CARD6	84674	broad.mit.edu	37	chr5	40854255	40854255	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcccatgtgcaagagctctCagttcaaatccgatcagtcc	11	10	7	13	1	3	1	3	0	1	1	7	2	6	1	3	0	2	3	3	0	2	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:40854255C>G	ENST00000254691.5	+	3	3020	c.2821C>G	c.(2821-2823)Cag>Gag	p.Q941E	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	941					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAAGAGCTCTCAGTTCAAATC	0.493													29	206					0	0	0	0	G	40854255	C	G	40854255	3	3	315	1	0	0	0	0	1	0	0	0	2675	827	29	2	2831	2	CARD6	5	40854255	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	3474764	40854255	140061005	77	56050											
VCAN	1462	broad.mit.edu	37	chr5	82832967	82832967	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgacataattgaaatagAcctataccacagtgaagaaa	18	8	6	9	0	0	5	0	3	0	2	0	5	0	5	3	0	1	0	3	0	7	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:82832967A>T	ENST00000265077.3	+	8	4710	c.4145A>T	c.(4144-4146)gAc>gTc	p.D1382V	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D395V|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1382	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATTGAAATAGACCTATACCAC	0.383													12	41					0	0	0	0	T	82832967	A	T	82832967	3	4	315	1	0	0	0	0	1	0	0	0	17234	275	10	5	4171	5	VCAN	5	82832967	Missense_Mutation	SNP	A	TCGA-CV-7424-01A-11D-2078-08	41978712	82832967	98082293	78	56051											
GPR98	84059	broad.mit.edu	37	chr5	89924449	89924449	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaattgggtgttgacaCggaacagcactgatccctca	10	9	11	11	2	1	2	1	2	0	0	2	4	2	3	1	2	3	2	1	2	2	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:89924449C>G	ENST00000405460.2	+	8	1405	c.1309C>G	c.(1309-1311)Cgg>Ggg	p.R437G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	437				LTR -> VTP (in Ref. 2; AAL30811).	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGTGTTGACACGGAACAGCAC	0.423													27	40					0	0	0	0	G	89924449	C	G	89924449	3	3	315	1	0	0	0	0	1	0	0	0	6771	527	19	3	1339	3	GPR98	5	89924449	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	7091482	89924449	90990811	79	56052											
PCDHA11	56138	broad.mit.edu	37	chr5	140250371	140250371	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgagaacgacaacgcGccggcactgctggcgactca	10	4	13	14	6	1	1	1	0	0	1	1	5	1	2	1	3	3	2	1	3	2	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:140250371G>A	ENST00000398640.2	+	1	1683	c.1683G>A	c.(1681-1683)gcG>gcA	p.A561A	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACGCGCCGGCACTGC	0.682													33	108					0	0	0	0	A	140250371	G	A	140250371	2	1	315	1	0	0	0	0	0	0	0	1	11592	1074	38	1		1	PCDHA11	5	140250371	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	50325922	140250371	40664889	80	56053											
PCDHB12	56124	broad.mit.edu	37	chr5	140590194	140590194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaacggctccgcgccctGcaccgagctggtgccctggg	5	5	15	16	4	0	1	0	0	0	1	1	2	1	1	4	3	4	4	4	3	1	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:140590194G>T	ENST00000239450.2	+	1	1904	c.1715G>T	c.(1714-1716)tGc>tTc	p.C572F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.C235F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		572	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGCGCCCTGCACCGAGCTG	0.701													40	59					2.59497e-14	2.92198e-14	1	0	T	140590194	G	T	140590194	3	4	315	1	0	0	0	0	1	0	0	0	11608	1319	46	4	1717	4	PCDHB12	5	140590194	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	339823	140590194	40325066	81	56054											
CLINT1	9685	broad.mit.edu	37	chr5	157240172	157240172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagcctgtcgtcatcctggGcaaattcaaccaattccttc	10	11	7	13	1	2	0	2	0	0	0	6	1	4	0	4	1	2	1	4	1	4	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:157240172G>A	ENST00000523094.1	-	5	567	c.362C>T	c.(361-363)gCc>gTc	p.A121V	CLINT1_ENST00000296951.5_Missense_Mutation_p.A121V|CLINT1_ENST00000530742.1_Missense_Mutation_p.A121V|CLINT1_ENST00000523908.1_Missense_Mutation_p.A139V|CLINT1_ENST00000411809.2_Missense_Mutation_p.A139V	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	139	ENTH.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCATCCTGGGCAAATTCAAC	0.413													18	53					0	0	0	0	A	157240172	G	A	157240172	3	1	315	1	0	0	0	0	1	0	0	0	3561	1203	42	4	1493	4	CLINT1	5	157240172	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	16649978	157240172	23675088	82	56055											
OR2W1	26692	broad.mit.edu	37	chr6	29012395	29012395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtgtctacacaagctatCttgaccagagctggcaactc	10	10	10	11	0	2	2	0	1	2	1	3	2	2	2	1	2	4	3	1	2	4	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:29012395C>T	ENST00000377175.1	-	1	622	c.558G>A	c.(556-558)aaG>aaA	p.K186K		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CACAAGCTATCTTGACCAGAG	0.403													28	113					0	0	0	0	T	29012395	C	T	29012395	2	4	315	1	0	0	0	0	0	0	0	1	11103	912	32	2		2	OR2W1	6	29012395	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08		29012395	142102672	83	56056											
DEFB112	245915	broad.mit.edu	37	chr6	50011492	50011492	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttccacctactaaaggtGatatggtgcccttcacttct	9	13	7	12	0	2	1	1	1	1	0	3	2	3	1	3	2	2	0	3	2	4	6			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:50011492G>A	ENST00000322246.4	-	2	137	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	46					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TACTAAAGGTGATATGGTGCC	0.403													16	51					0	0	0	0	A	50011492	G	A	50011492	2	1	315	1	0	0	0	0	0	0	0	1	4437	1280	45	2		2	DEFB112	6	50011492	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	20999097	50011492	121103575	84	56057											
PHF3	23469	broad.mit.edu	37	chr6	64394278	64394278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtatcagtgtcttcaagtCattcttcagtgtcatcttgt	9	17	7	8	0	8	0	5	0	3	0	8	0	8	0	0	0	0	1	0	0	3	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:64394278C>T	ENST00000262043.3	+	4	995	c.655C>T	c.(655-657)Cat>Tat	p.H219Y	PHF3_ENST00000393387.1_Missense_Mutation_p.H219Y|PHF3_ENST00000509330.1_Missense_Mutation_p.H219Y			Q92576	PHF3_HUMAN	PHD finger protein 3	219					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTCTTCAAGTCATTCTTCAGT	0.393													20	102					0	0	0	0	T	64394278	C	T	64394278	3	4	315	1	0	0	0	0	1	0	0	0	11908	826	29	2	665	2	PHF3	6	64394278	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	14382786	64394278	106720789	85	56058											
COL12A1	1303	broad.mit.edu	37	chr6	75875236	75875236	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctacattcagttgtggcAtctccagtcaaaggttctcc	9	13	7	12	0	4	0	2	0	2	0	6	0	4	0	3	2	2	3	3	2	3	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:75875236A>G	ENST00000322507.8	-	14	3279	c.2970T>C	c.(2968-2970)gaT>gaC	p.D990D	COL12A1_ENST00000416123.2_Silent_p.D990D|COL12A1_ENST00000483888.2_Silent_p.D990D|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	990	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGTTGTGGCATCTCCAGTCA	0.423													12	120					0	0	0	0	G	75875236	A	G	75875236	2	3	315	1	0	0	0	0	0	0	0	1	3699	214	8	5		5	COL12A1	6	75875236	Silent	SNP	A	TCGA-CV-7424-01A-11D-2078-08	11480958	75875236	95239831	86	56059											
MDN1	23195	broad.mit.edu	37	chr6	90459426	90459426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggccaaatttaattcatCtaaaataatccaatagcctt	16	12	5	8	0	2	0	1	0	1	0	3	0	3	0	3	2	1	0	3	2	7	7			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:90459426C>T	ENST00000369393.3	-	25	3566	c.3451G>A	c.(3451-3453)Gat>Aat	p.D1151N	MDN1_ENST00000428876.1_Missense_Mutation_p.D1151N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1151					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTAATTCATCTAAAATAATC	0.353													34	51					0	0	0	0	T	90459426	C	T	90459426	3	4	315	1	0	0	0	0	1	0	0	0	9484	913	32	2	13651	2	MDN1	6	90459426	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	14584190	90459426	80655641	87	56060											
RFPL4B	442247	broad.mit.edu	37	chr6	112671570	112671570	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacttagaagaaatccagttTtttgatgttgacaataatgt	14	15	8	4	0	0	4	0	2	0	2	1	5	1	4	1	0	0	2	1	0	5	6			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:112671570T>C	ENST00000441065.2	+	3	972	c.660T>C	c.(658-660)ttT>ttC	p.F220F		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	220	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AAATCCAGTTTTTTGATGTTG	0.458													13	57					0	0	0	0	C	112671570	T	C	112671570	2	2	315	1	0	0	0	0	0	0	0	1	13338	1838	64	5		5	RFPL4B	6	112671570	Silent	SNP	T	TCGA-CV-7424-01A-11D-2078-08	22212144	112671570	58443497	88	56061											
AKAP12	9590	broad.mit.edu	37	chr6	151671406	151671406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagcgtgttagacggccttCggaaagtgataaagaagatg	14	8	14	5	3	0	4	0	1	0	3	1	6	0	5	1	2	1	1	1	2	6	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:151671406C>T	ENST00000402676.2	+	4	2120	c.1880C>T	c.(1879-1881)tCg>tTg	p.S627L	AKAP12_ENST00000354675.6_Missense_Mutation_p.S529L|AKAP12_ENST00000253332.1_Missense_Mutation_p.S627L|AKAP12_ENST00000359755.5_Missense_Mutation_p.S522L	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	627	AKAP 1.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGACGGCCTTCGGAAAGTGAT	0.488													6	32					0	0	0	0	T	151671406	C	T	151671406	3	4	315	1	0	0	0	0	1	0	0	0	448	893	31	1	1919	1	AKAP12	6	151671406	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	38999836	151671406	19443661	89	56062											
PDE10A	10846	broad.mit.edu	37	chr6	165848793	165848793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagacggtggtgccctGagtgatgggcccagcaggga	9	5	18	9	1	0	3	0	2	0	1	0	5	0	4	2	4	3	2	2	4	0	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:165848793G>T	ENST00000366882.1	-	7	593	c.439C>A	c.(439-441)Cag>Aag	p.Q147K	PDE10A_ENST00000354448.4_Missense_Mutation_p.Q147K|PDE10A_ENST00000539869.2_Missense_Mutation_p.Q157K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	147	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTGGTGCCCTGAGTGATGGGC	0.483													8	47					0.27861	0.27861	1	0	T	165848793	G	T	165848793	3	4	315	1	0	0	0	0	1	0	0	0	11701	1299	45	2	1968	2	PDE10A	6	165848793	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	14177387	165848793	5266274	90	56063											
CCT6A	908	broad.mit.edu	37	chr7	56130445	56130445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaagaaacagcttcttcactCctggtaagtttgggaaaatg	14	11	9	7	0	2	1	1	0	1	1	3	2	3	2	1	2	2	3	1	2	5	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:56130445C>G	ENST00000275603.4	+	13	1739	c.1520C>G	c.(1519-1521)tCc>tGc	p.S507C	CCT6A_ENST00000462133.1_3'UTR|CCT6A_ENST00000540286.1_Missense_Mutation_p.S476C|CCT6A_ENST00000335503.3_Missense_Mutation_p.S462C	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	507					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTCTTCACTCCTGGTAAGTT	0.378													18	58					0	0	0	0	G	56130445	C	G	56130445	3	3	315	1	0	0	0	0	1	0	0	0	2986	855	30	2	1570	2	CCT6A	7	56130445	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08		56130445	103008218	91	56064											
TAF6	6878	broad.mit.edu	37	chr7	99711749	99711749	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctcctcctgaatctgggcGatgcccatggattcagccac	7	10	10	14	1	3	1	1	1	2	0	5	3	4	2	4	2	2	0	4	2	1	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:99711749G>A	ENST00000344095.4	-	2	609	c.84C>T	c.(82-84)atC>atT	p.I28I	TAF6_ENST00000472509.1_Silent_p.I85I|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000453269.2_Silent_p.I28I|TAF6_ENST00000437822.2_Silent_p.I65I|TAF6_ENST00000452041.1_Silent_p.I28I	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	28					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCTGGGCGATGCCCATGG	0.567													22	149					0	0	0	0	A	99711749	G	A	99711749	2	1	315	1	0	0	0	0	0	0	0	1	15621	1048	37	1		1	TAF6	7	99711749	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	43581304	99711749	59426914	92	56065											
CUX1	1523	broad.mit.edu	37	chr7	101840399	101840399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgattaagcacaatatcGgacaacgtattttcggacat	14	11	8	8	3	0	1	0	1	0	0	2	3	0	3	0	2	3	3	0	2	5	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:101840399G>A	ENST00000360264.3	+	15	1761	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.G468R|CUX1_ENST00000550008.2_Missense_Mutation_p.G570R|CUX1_ENST00000549414.2_Missense_Mutation_p.G570R|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.G468R|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.G570R|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	570					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCACAATATCGGACAACGTAT	0.542													82	121					0	0	0	0	A	101840399	G	A	101840399	3	1	315	1	0	0	0	0	1	0	0	0	4096	1117	39	1	1833	1	CUX1	7	101840399	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	2128650	101840399	57298264	93	56066											
ZNF277	11179	broad.mit.edu	37	chr7	111970331	111970331	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgcaaacaaaatctttctGaggaccaactaatatttgaa	17	11	5	8	0	2	2	0	2	2	0	2	3	2	3	1	1	3	1	1	1	7	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:111970331G>C	ENST00000450657.1	+	7	877	c.861G>C	c.(859-861)ctG>ctC	p.L287L	AC004112.4_ENST00000431064.1_RNA|ZNF277_ENST00000361822.3_Intron			Q9NRM2	ZN277_HUMAN	zinc finger protein 277	0						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AAATCTTTCTGAGGACCAACT	0.303													10	27					0	0	0	0	C	111970331	G	C	111970331	2	2	315	1	0	0	0	0	0	0	0	1	17907	1305	45	2		2	ZNF277	7	111970331	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	10129932	111970331	47168332	94	56067											
LRGUK	136332	broad.mit.edu	37	chr7	133948645	133948645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagagtctcaccaacacaGacaacactcggtcccagtca	16	5	6	14	1	2	2	2	0	1	2	5	2	3	2	2	1	2	0	2	1	4	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:133948645G>A	ENST00000285928.2	+	20	2465	c.2396G>A	c.(2395-2397)aGa>aAa	p.R799K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	799							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CACCAACACAGACAACACTCG	0.458													9	87					0	0	0	0	A	133948645	G	A	133948645	3	1	315	1	0	0	0	0	1	0	0	0	9007	942	33	2	2474	2	LRGUK	7	133948645	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	21978314	133948645	25190018	95	56068											
ZNF282	8427	broad.mit.edu	37	chr7	148895756	148895756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtacgggctgctgcagaGgcggctggagaacttggaga	9	6	19	7	2	0	3	0	0	0	3	0	6	0	4	0	6	4	5	0	6	2	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:148895756G>A	ENST00000262085.3	+	2	602	c.497G>A	c.(496-498)aGg>aAg	p.R166K	ZNF282_ENST00000479907.1_Missense_Mutation_p.R166K	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	166					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTGCTGCAGAGGCGGCTGGAG	0.637													13	81					0	0	0	0	A	148895756	G	A	148895756	3	1	315	1	0	0	0	0	1	0	0	0	17914	1000	35	4	503	4	ZNF282	7	148895756	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	14947111	148895756	10242907	96	56069											
SLC4A2	6522	broad.mit.edu	37	chr7	150771922	150771922	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttcatggagacacagaTcaccacgtgagtggtcctag	11	9	10	11	1	3	3	2	1	1	2	4	4	4	3	2	2	0	0	2	2	1	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:150771922T>A	ENST00000485713.1	+	19	4081	c.3041T>A	c.(3040-3042)aTc>aAc	p.I1014N	SLC4A2_ENST00000310317.5_Missense_Mutation_p.I932N|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Missense_Mutation_p.I1000N|SLC4A2_ENST00000392826.2_Missense_Mutation_p.I1005N|SLC4A2_ENST00000413384.2_Missense_Mutation_p.I1014N	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1014	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			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)		GAGACACAGATCACCACGTGA	0.602													13	8					0	0	0	0	A	150771922	T	A	150771922	3	1	315	1	0	0	0	0	1	0	0	0	14742	1435	50	5	3111	5	SLC4A2	7	150771922	Missense_Mutation	SNP	T	TCGA-CV-7424-01A-11D-2078-08	1876166	150771922	8366741	97	56070											
AGAP3	116988	broad.mit.edu	37	chr7	150817161	150817161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagcgggagctgcgcatcGagaccatcgctgcctcctcc	6	6	12	17	4	0	1	0	0	0	1	4	3	2	2	5	1	4	3	5	1	0	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:150817161G>A	ENST00000397238.2	+	8	1057	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	AGAP3_ENST00000473312.1_Missense_Mutation_p.E353K|AGAP3_ENST00000335367.3_Missense_Mutation_p.E533K|AGAP3_ENST00000463381.1_Missense_Mutation_p.E125K|AGAP3_ENST00000479901.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	317	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTGCGCATCGAGACCATCGC	0.652													31	17					0	0	0	0	A	150817161	G	A	150817161	3	1	315	1	0	0	0	0	1	0	0	0	369	1059	37	1	1087	1	AGAP3	7	150817161	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	45239	150817161	8321502	98	56071											
FBXO25	26260	broad.mit.edu	37	chr8	381402	381402	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcatgaatatgcatcgaaaAaaaggaaaaaggaccatttt	20	8	8	5	1	0	1	0	1	0	0	1	4	0	3	1	2	2	2	1	2	7	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:381402A>T	ENST00000276326.5	+	3	315	c.196A>T	c.(196-198)Aaa>Taa	p.K66*	FBXO25_ENST00000352684.2_Missense_Mutation_p.K15N|FBXO25_ENST00000350302.3_Nonsense_Mutation_p.K66*|FBXO25_ENST00000382824.1_Missense_Mutation_p.K15N	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	66	Interaction with beta-actin.					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TGCATCGAAAAAAAGGAAAAA	0.249													10	54					0	0	0	0	T	381402	A	T	381402	4	4	315	1	0	0	0	0	0	1	0	0	5781	15	1	5	202	5	FBXO25	8	381402	Nonsense_Mutation	SNP	A	TCGA-CV-7424-01A-11D-2078-08		381402	145982620	99	56072											
LOXL2	4017	broad.mit.edu	37	chr8	23179757	23179757	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatggacttctcattgccTgtgcactggatctcgttgag	8	14	10	9	1	2	1	1	1	2	0	4	3	2	3	1	2	2	2	1	2	1	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:23179757T>G	ENST00000389131.3	-	7	1557	c.1188A>C	c.(1186-1188)acA>acC	p.T396T		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	396	SRCR 3.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCTCATTGCCTGTGCACTGGA	0.517													28	41					0	0	0	0	G	23179757	T	G	23179757	2	3	315	1	0	0	0	0	0	0	0	1	8964	1567	55	5		5	LOXL2	8	23179757	Silent	SNP	T	TCGA-CV-7424-01A-11D-2078-08	22798355	23179757	123184265	100	56073											
ANK1	286	broad.mit.edu	37	chr8	41543691	41543691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcgttttggccttcacGgatgacccagaggttcagca	7	12	12	10	2	2	2	2	1	0	1	2	3	2	3	2	3	2	4	2	3	0	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:41543691G>A	ENST00000396942.1	-	36	4452	c.4369C>T	c.(4369-4371)Cgt>Tgt	p.R1457C	ANK1_ENST00000289734.7_Missense_Mutation_p.R1457C|ANK1_ENST00000396945.1_Missense_Mutation_p.R1457C|ANK1_ENST00000379758.2_Missense_Mutation_p.R1457C|ANK1_ENST00000347528.4_Missense_Mutation_p.R1457C|ANK1_ENST00000265709.8_Missense_Mutation_p.R1498C|ANK1_ENST00000352337.4_Missense_Mutation_p.R1457C			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1457	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCTTCACGGATGACCCAG	0.522													8	73					0	0	0	0	A	41543691	G	A	41543691	3	1	315	1	0	0	0	0	1	0	0	0	620	1116	39	1	1630	1	ANK1	8	41543691	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	18363934	41543691	104820331	101	56074											
CYP7A1	1581	broad.mit.edu	37	chr8	59407110	59407110	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgcttgactcaaacaaatagGattgccttccaagctgactt	12	12	7	10	0	1	2	1	2	0	0	2	3	2	3	2	1	4	2	2	1	4	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:59407110G>C	ENST00000301645.3	-	4	1131	c.994C>G	c.(994-996)Cct>Gct	p.P332A		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	332					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AAACAAATAGGATTGCCTTCC	0.373									Neonatal Giant Cell Hepatitis				32	43					0	0	0	0	C	59407110	G	C	59407110	3	2	315	1	0	0	0	0	1	0	0	0	4228	1174	41	2	532	2	CYP7A1	8	59407110	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	17863419	59407110	86956912	102	56075											
PREX2	80243	broad.mit.edu	37	chr8	68934362	68934362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacaaaataagaacaatccGgacatttcttttggtaagtg	16	11	7	7	1	1	1	0	0	1	1	2	2	2	2	1	2	2	1	1	2	7	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:68934362G>A	ENST00000288368.4	+	4	705	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	143	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R143Q(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAACAATCCGGACATTTCTT	0.328													19	25					0	0	0	0	A	68934362	G	A	68934362	3	1	315	1	0	0	0	0	1	0	0	0	12557	1116	39	1	442	1	PREX2	8	68934362	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	9527252	68934362	77429660	103	56076											
COL14A1	7373	broad.mit.edu	37	chr8	121170405	121170405	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttaagatataatgtaatatCtcatgacagtatacagattt	16	15	6	4	0	1	3	1	1	1	2	2	3	1	3	0	0	1	3	0	0	7	8			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:121170405C>G	ENST00000297848.3	+	3	395	c.125C>G	c.(124-126)tCt>tGt	p.S42C	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.S42C|COL14A1_ENST00000247781.3_Missense_Mutation_p.S42C|COL14A1_ENST00000537875.1_Missense_Mutation_p.S42C	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	42	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATGTAATATCTCATGACAGT	0.343													12	72					0	0	0	0	G	121170405	C	G	121170405	3	3	315	1	0	0	0	0	1	0	0	0	3701	913	32	2	131	2	COL14A1	8	121170405	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	52236043	121170405	25193617	104	56077											
ADCY8	114	broad.mit.edu	37	chr8	132052284	132052284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgcaggtgctgtgcgctCgctctcccgggcccagcgag	3	7	15	16	5	1	0	0	0	1	0	3	1	1	0	3	2	4	4	3	2	0	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr8:132052284C>A	ENST00000286355.5	-	1	2388	c.296G>T	c.(295-297)cGa>cTa	p.R99L	ADCY8_ENST00000377928.3_Missense_Mutation_p.R99L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	99					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTGTGCGCTCGCTCTCCCGG	0.736										HNSCC(32;0.087)			3	8					0.115264	0.116642	1	0	A	132052284	C	A	132052284	3	1	315	1	0	0	0	0	1	0	0	0	300	884	31	3	3531	3	ADCY8	8	132052284	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	10881879	132052284	14311738	105	56078											
KCNQ3	3786	broad.mit.edu	37	chr8	133192492	133192492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcaggatctgcaggaagCgcaggcttcgcagggaggtg	8	6	18	9	3	1	0	0	0	1	0	2	3	1	3	0	5	3	5	0	5	1	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:133192492C>T	ENST00000388996.4	-	4	1109	c.689G>A	c.(688-690)cGc>cAc	p.R230H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R110H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R230H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	230					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R230H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTGCAGGAAGCGCAGGCTTCG	0.587													15	77					0	0	0	0	T	133192492	C	T	133192492	3	4	315	1	0	0	0	0	1	0	0	0	8137	768	27	1	1977	1	KCNQ3	8	133192492	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	1140208	133192492	13171530	106	56079											
ZFAT	57623	broad.mit.edu	37	chr8	135614794	135614794	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtcatcaggcagagctCgtccaaggcctctttgacct	7	10	9	15	2	3	2	2	1	1	1	6	2	4	2	4	2	1	2	4	2	1	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:135614794C>A	ENST00000520727.1	-	7	1431	c.1132G>T	c.(1132-1134)Gag>Tag	p.E378*	ZFAT_ENST00000429442.2_Nonsense_Mutation_p.E378*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.E378*|ZFAT_ENST00000377838.3_Nonsense_Mutation_p.E390*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.E328*|ZFAT_ENST00000520356.1_Nonsense_Mutation_p.E378*	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGGCAGAGCTCGTCCAAGGCC	0.557													7	99					8.12818e-05	8.49625e-05	1	0	A	135614794	C	A	135614794	4	1	315	1	0	0	0	0	0	1	0	0	17727	893	31	3	2607	3	ZFAT	8	135614794	Nonsense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	2422302	135614794	10749228	107	56080											
COL22A1	169044	broad.mit.edu	37	chr8	139696689	139696689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggttcctaggggtccaggGagtccaggtgatccacggag	7	9	16	9	1	0	1	0	1	0	0	4	3	4	3	4	6	0	1	4	6	1	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:139696689G>A	ENST00000303045.6	-	39	3437	c.2991C>T	c.(2989-2991)ctC>ctT	p.L997L	COL22A1_ENST00000435777.1_Silent_p.L997L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	997	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGTCCAGGGAGTCCAGGTG	0.493										HNSCC(7;0.00092)			22	166					0	0	0	0	A	139696689	G	A	139696689	2	1	315	1	0	0	0	0	0	0	0	1	3711	1161	41	2		2	COL22A1	8	139696689	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	4081895	139696689	6667333	108	56081											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	8	6	10	17	3	2	1	2	1	0	0	4	1	3	1	3	1	4	4	3	1	0	0	rs121913387		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			9	11					0	0	0	0	A	21971186	G	A	21971186	4	1	315	1	0	0	0	0	0	1	0	0	3190	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08		21971186	119242245	109	56082											
TAF1L	138474	broad.mit.edu	37	chr9	32630185	32630185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccaccatatcccacatcaGagtcacttccactttcactc	10	12	2	17	0	3	1	3	0	0	1	7	1	6	1	4	0	0	0	4	0	1	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:32630185G>A	ENST00000242310.4	-	1	5482	c.5393C>T	c.(5392-5394)tCt>tTt	p.S1798F		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1798					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCCACATCAGAGTCACTTCC	0.453													14	82					0	0	0	0	A	32630185	G	A	32630185	3	1	315	1	0	0	0	0	1	0	0	0	15614	942	33	2	91	2	TAF1L	9	32630185	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	10658999	32630185	108583246	110	56083											
FBXO10	26267	broad.mit.edu	37	chr9	37537796	37537796	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcccacaaattcacagttttCcaggacacacaggggcacgt	12	7	9	13	1	1	0	1	0	0	0	2	1	2	1	2	3	0	2	2	3	1	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:37537796C>G	ENST00000432825.2	-	3	778	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	244						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TCACAGTTTTCCAGGACACAC	0.498													6	49					0	0	0	0	G	37537796	C	G	37537796	3	3	315	1	0	0	0	0	1	0	0	0	5771	864	30	2	2176	2	FBXO10	9	37537796	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	4907611	37537796	103675635	111	56084											
WNK2	65268	broad.mit.edu	37	chr9	96021855	96021855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcccctccagccccacCttcctgaacaagctgctcca	8	7	6	20	0	0	2	0	2	0	0	3	2	3	2	8	0	5	2	8	0	2	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:96021855C>T	ENST00000297954.4	+	11	3025	c.3025C>T	c.(3025-3027)Ctt>Ttt	p.L1009F	WNK2_ENST00000427277.2_Missense_Mutation_p.L621F|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.L621F|WNK2_ENST00000395477.2_Missense_Mutation_p.L1009F|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1009					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCAGCCCCACCTTCCTGAACA	0.687													3	17					0	0	0	0	T	96021855	C	T	96021855	3	4	315	1	0	0	0	0	1	0	0	0	17474	681	24	4	3067	4	WNK2	9	96021855	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	58484059	96021855	45191576	112	56085											
PTCH1	5727	broad.mit.edu	37	chr9	98242784	98242784	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttattcagcatttcctccCagctgtccacttgatagttt	7	16	5	13	0	1	1	1	1	0	0	4	1	4	1	4	0	2	3	4	0	2	6			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:98242784C>T	ENST00000430669.2	-	6	1220	c.635G>A	c.(634-636)tGg>tAg	p.W212*	PTCH1_ENST00000418258.1_Nonsense_Mutation_p.W127*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.W277*|PTCH1_ENST00000331920.6_Nonsense_Mutation_p.W278*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.W127*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.W212*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.W127*|PTCH1_ENST00000548379.1_5'UTR			Q13635	PTC1_HUMAN	patched 1	278					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.W278*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CATTTCCTCCCAGCTGTCCAC	0.498													44	39					0	0	0	0	T	98242784	C	T	98242784	4	4	315	1	0	0	0	0	0	1	0	0	12809	595	21	4	3582	4	PTCH1	9	98242784	Nonsense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	2220929	98242784	42970647	113	56086											
STX17	55014	broad.mit.edu	37	chr9	102677620	102677620	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacctggaaaggttaagAaagcaccagataaatattga	19	7	9	6	0	0	4	0	1	0	3	0	5	0	5	2	2	1	2	2	2	6	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:102677620A>C	ENST00000259400.6	+	2	235	c.99A>C	c.(97-99)agA>agC	p.R33S	STX17_ENST00000525640.1_Missense_Mutation_p.R33S|STX17_ENST00000534052.1_Missense_Mutation_p.R33S|RP11-60I3.4_ENST00000524512.1_RNA	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	33					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AAAGGTTAAGAAAGCACCAGA	0.343													21	56					0	0	0	0	C	102677620	A	C	102677620	3	2	315	1	0	0	0	0	1	0	0	0	15430	243	9	5	101	5	STX17	9	102677620	Missense_Mutation	SNP	A	TCGA-CV-7424-01A-11D-2078-08	4434836	102677620	38535811	114	56087											
SLC44A1	23446	broad.mit.edu	37	chr9	108110642	108110642	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttttctttcaacaggttCagccctatgtagctacaacc	11	14	5	11	0	3	0	2	0	1	0	3	0	3	0	2	1	5	3	2	1	6	7			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:108110642C>G	ENST00000374720.3	+	5	657	c.410C>G	c.(409-411)tCa>tGa	p.S137*	SLC44A1_ENST00000374724.1_Nonsense_Mutation_p.S137*|SLC44A1_ENST00000374723.1_Nonsense_Mutation_p.S137*	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	137						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TCAACAGGTTCAGCCCTATGT	0.353													15	61					0	0	0	0	G	108110642	C	G	108110642	4	3	315	1	0	0	0	0	0	1	0	0	14723	838	29	2	428	2	SLC44A1	9	108110642	Nonsense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	5433022	108110642	33102789	115	56088											
ZFP37	7539	broad.mit.edu	37	chr9	115818900	115818900	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcccggcctctttggtcgtTtccgcacttctcctccggtc	1	13	9	18	5	2	0	0	0	2	0	7	0	4	0	5	3	0	2	5	3	0	3	rs144129779		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:115818900T>G	ENST00000374227.3	-	1	96	c.69A>C	c.(67-69)gaA>gaC	p.E23D	ZFP37_ENST00000553380.1_Missense_Mutation_p.E23D|ZFP37_ENST00000555206.1_Missense_Mutation_p.E23D			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	23						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTTGGTCGTTTCCGCACTTC	0.652													16	134					0	0	0	0	G	115818900	T	G	115818900	3	3	315	1	0	0	0	0	1	0	0	0	17743	1838	64	5	1839	5	ZFP37	9	115818900	Missense_Mutation	SNP	T	TCGA-CV-7424-01A-11D-2078-08	7708258	115818900	25394531	116	56089											
TTF1	7270	broad.mit.edu	37	chr9	135251352	135251363	+	In_Frame_Del	DEL	GAGCCATGCATG	GAGCCATGCATG	-																															agtactggaattacaggcgtGagccatgcatggcgcctggc																										TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:135251352_135251363delGAGCCATGCATG	ENST00000334270.2	-	11	2696_2707	c.2657_2668delCATGCATGGCTC	c.(2656-2670)cac>c	p.PCMAH886del	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	886					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ttacaggcgtgagccatgcatggcgcctggcc	0.509													15	16	---	---	---	---					-	135251363	GAGCCATGCATG	-	135251352	7	5	315	1	0	1	0	1	0	0	0	0	16814	1290	45	0	53	0	TTF1	9	135251352	In_Frame_Del	DEL	GAGCCATGCATG	TCGA-CV-7424-01A-11D-2078-08	19432452	135251352	5962079	117	56090											
GFI1B	8328	broad.mit.edu	37	chr9	135866405	135866405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcaaggtggacctgcggCggcaccgcgagagccagcac	9	2	16	14	5	0	1	0	0	0	1	0	3	0	2	3	4	4	3	3	4	1	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:135866405C>T	ENST00000339463.3	+	11	1780	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	GFI1B_ENST00000372124.1_Missense_Mutation_p.R275W|GFI1B_ENST00000450530.1_Missense_Mutation_p.R321W|GFI1B_ENST00000372122.1_Missense_Mutation_p.R321W|GFI1B_ENST00000372123.1_Missense_Mutation_p.R275W|GFI1B_ENST00000534944.1_Missense_Mutation_p.R275W			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	321	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	p.R321W(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GGACCTGCGGCGGCACCGCGA	0.652													6	61					0	0	0	0	T	135866405	C	T	135866405	3	4	315	1	0	0	0	0	1	0	0	0	6391	759	27	1	983	1	GFI1B	9	135866405	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	615053	135866405	5347026	118	56091											
NOTCH1	4851	broad.mit.edu	37	chr9	139405241	139405241	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaacgcactcgttgatgtcGacctcacaggtctgccctgc	8	9	10	14	3	2	2	1	1	1	1	4	3	2	2	2	1	3	2	2	1	1	1	rs115235667	by1000genomes	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:139405241G>A	ENST00000277541.6	-	17	2679	c.2604C>T	c.(2602-2604)gtC>gtT	p.V868V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	868					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTTGATGTCGACCTCACAGG	0.706			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			19	17					0	0	0	0	A	139405241	G	A	139405241	2	1	315	1	0	0	0	0	0	0	0	1	10617	1045	37	1		1	NOTCH1	9	139405241	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	3538836	139405241	1808190	119	56092											
GAD2	2572	broad.mit.edu	37	chr10	26581498	26581498	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatgagatggtgtttgatggGaaggtatgtatttggatttc	9	17	14	1	0	0	2	0	2	0	1	1	5	0	4	0	4	0	3	0	4	4	6			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:26581498G>A	ENST00000376261.3	+	14	1994	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G	GAD2_ENST00000259271.3_Silent_p.G497G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	497					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGTTTGATGGGAAGGTATGTA	0.388													10	50					0	0	0	0	A	26581498	G	A	26581498	2	1	315	1	0	0	0	0	0	0	0	1	6228	1161	41	2		2	GAD2	10	26581498	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08		26581498	108953249	120	56093											
ZNF438	220929	broad.mit.edu	37	chr10	31138093	31138093	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggggatcattttttactCtttctttaccatctctacac	7	19	4	11	0	4	0	1	0	3	0	5	1	4	1	1	2	3	0	1	2	3	8			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:31138093C>G	ENST00000538351.1	-	7	1848	c.1094G>C	c.(1093-1095)aGa>aCa	p.R365T	ZNF438_ENST00000331737.6_Missense_Mutation_p.R404T|ZNF438_ENST00000452305.1_Missense_Mutation_p.R404T|ZNF438_ENST00000442986.1_Missense_Mutation_p.R414T|ZNF438_ENST00000413025.1_Missense_Mutation_p.R414T|ZNF438_ENST00000361310.3_Missense_Mutation_p.R414T|ZNF438_ENST00000436087.2_Missense_Mutation_p.R414T|ZNF438_ENST00000444692.2_Missense_Mutation_p.R404T|ZNF438_ENST00000375311.1_5'UTR	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				ATTTTTTACTCTTTCTTTACC	0.378													8	32					0	0	0	0	G	31138093	C	G	31138093	3	3	315	1	0	0	0	0	1	0	0	0	18005	913	32	2	1253	2	ZNF438	10	31138093	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	4556595	31138093	104396654	121	56094											
ANKRD30A	91074	broad.mit.edu	37	chr10	37431034	37431034	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccgcaaaagaaacatcTgagaaatttacgtgggcagc	15	7	10	9	2	1	2	0	1	1	2	2	3	2	2	1	1	3	2	1	1	5	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:37431034T>G	ENST00000374660.1	+	7	1140	c.1041T>G	c.(1039-1041)tcT>tcG	p.S347S	ANKRD30A_ENST00000361713.1_Silent_p.S347S|ANKRD30A_ENST00000602533.1_Silent_p.S347S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	403						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGAAACATCTGAGAAATTTA	0.433													21	79					0	0	0	0	G	37431034	T	G	37431034	2	3	315	1	0	0	0	0	0	0	0	1	658	1567	55	5		5	ANKRD30A	10	37431034	Silent	SNP	T	TCGA-CV-7424-01A-11D-2078-08	6292941	37431034	98103713	122	56095											
BMS1	9790	broad.mit.edu	37	chr10	43285840	43285840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttctaaacatctgtcaaGtacatggctttcctaaaatt	13	15	5	8	0	3	0	1	0	2	0	4	0	4	0	1	1	2	3	1	1	6	6			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:43285840G>A	ENST00000374518.4	+	5	580	c.517G>A	c.(517-519)Gta>Ata	p.V173I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	173					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATCTGTCAAGTACATGGCTT	0.378													18	66					0	0	0	0	A	43285840	G	A	43285840	3	1	315	1	0	0	0	0	1	0	0	0	1477	1029	36	4	531	4	BMS1	10	43285840	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	5854806	43285840	92248907	123	56096											
OR13A1	79290	broad.mit.edu	37	chr10	45799763	45799763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccggtattctgggtgctcCgaaaagccctgcaggatgaa	10	8	12	11	2	1	1	0	1	1	0	2	3	2	2	3	3	3	3	3	3	4	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:45799763C>T	ENST00000553795.1	-	4	416	c.108G>A	c.(106-108)tcG>tcA	p.S36S	OR13A1_ENST00000536058.1_Silent_p.S36S|OR13A1_ENST00000374401.2_Silent_p.S36S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S36S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CTGGGTGCTCCGAAAAGCCCT	0.527													12	33					0	0	0	0	T	45799763	C	T	45799763	2	4	315	1	0	0	0	0	0	0	0	1	11004	639	23	1		1	OR13A1	10	45799763	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08	2513923	45799763	89734984	124	56097											
OGDHL	55753	broad.mit.edu	37	chr10	50946288	50946288	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggaacctttcgggcctCgctgacgagtgctctgggcc	5	9	14	13	3	1	1	0	1	1	0	3	3	1	2	3	3	3	3	3	3	1	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:50946288C>T	ENST00000374103.4	-	18	2425	c.2340G>A	c.(2338-2340)gcG>gcA	p.A780A	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Silent_p.A571A|OGDHL_ENST00000419399.1_Silent_p.A723A	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	780					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.A780A(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTTCGGGCCTCGCTGACGAGT	0.617													9	27					0	0	0	0	T	50946288	C	T	50946288	2	4	315	1	0	0	0	0	0	0	0	1	10911	871	31	1		1	OGDHL	10	50946288	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08	5146525	50946288	84588459	125	56098											
FAM13C	220965	broad.mit.edu	37	chr10	61011420	61011420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccctagtttctcggagatGgtcaagaagtacaggcctat	11	10	11	9	1	2	2	1	0	1	2	3	3	2	2	2	3	2	2	2	3	5	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:61011420G>T	ENST00000373867.3	-	14	1762	c.1297C>A	c.(1297-1299)Cat>Aat	p.H433N	FAM13C_ENST00000442566.3_Missense_Mutation_p.H538N|FAM13C_ENST00000373868.2_Missense_Mutation_p.H517N|FAM13C_ENST00000468840.2_Missense_Mutation_p.H434N|FAM13C_ENST00000435852.2_Missense_Mutation_p.H517N|FAM13C_ENST00000419214.2_Missense_Mutation_p.H419N|FAM13C_ENST00000277705.6_Missense_Mutation_p.H537N	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	517										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						TCTCGGAGATGGTCAAGAAGT	0.403													9	96					2.17888e-05	2.30362e-05	1	0	T	61011420	G	T	61011420	3	4	315	1	0	0	0	0	1	0	0	0	5495	1348	47	4	216	4	FAM13C	10	61011420	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	10065132	61011420	74523327	126	56099											
HK1	3098	broad.mit.edu	37	chr10	71103643	71103643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctcatagatatcatgactCgcttcaggaaggagatgaag	13	10	10	8	1	3	4	3	2	1	2	5	6	3	5	0	2	0	1	0	2	4	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:71103643C>T	ENST00000448642.2	+	7	618	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	HK1_ENST00000404387.2_Missense_Mutation_p.R46C|HK1_ENST00000360289.2_Missense_Mutation_p.R30C|HK1_ENST00000359426.6_Missense_Mutation_p.R42C|HK1_ENST00000298649.3_Missense_Mutation_p.R41C|HK1_ENST00000494253.1_3'UTR			P19367	HXK1_HUMAN	hexokinase 1	42	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TATCATGACTCGCTTCAGGAA	0.498													17	121					0	0	0	0	T	71103643	C	T	71103643	3	4	315	1	0	0	0	0	1	0	0	0	7240	884	31	1	308	1	HK1	10	71103643	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	10092223	71103643	64431104	127	56100											
ZNF503	84858	broad.mit.edu	37	chr10	77158752	77158752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaagccatggcggccgCggcagcgctggccagagacg	7	3	18	13	5	0	1	0	0	0	1	0	2	0	1	3	5	2	3	3	5	1	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:77158752C>T	ENST00000372524.4	-	2	2182	c.1696G>A	c.(1696-1698)Gcg>Acg	p.A566T	ZNF503_ENST00000535216.1_Missense_Mutation_p.A566T|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					ATGGCGGCCGCGGCAGCGCTG	0.697													3	11					0	0	0	0	T	77158752	C	T	77158752	3	4	315	1	0	0	0	0	1	0	0	0	18046	768	27	1	248	1	ZNF503	10	77158752	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	6055109	77158752	58375995	128	56101											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118396336	118396336	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaggatgccccaaaaTggggcactatgctgaccaat	13	7	11	10	0	0	2	0	2	0	0	0	3	0	3	3	3	3	3	3	3	5	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:118396336T>C	ENST00000537242.1	+	0	1003				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGCCCCAAAATGGGGCACTAT	0.403													3	10					0	0	0	0	C	118396336	T	C	118396336	1	2	315	0	1	0	0	0	0	0	0	0	12223	1464	51	5		5	PNLIPRP2	10	118396336	RNA	SNP	T	TCGA-CV-7424-01A-11D-2078-08	41237584	118396336	17138411	129	56102											
C10orf82	143379	broad.mit.edu	37	chr10	118425293	118425293	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcacacagtggttcatgtCatcctccttggacattcctt	7	16	6	12	0	3	0	3	0	0	0	6	1	6	1	3	2	0	1	3	2	0	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:118425293C>G	ENST00000369210.3	-	3	154	c.100G>C	c.(100-102)Gac>Cac	p.D34H	C10orf82_ENST00000588184.1_Missense_Mutation_p.D34H	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	34										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		TGGTTCATGTCATCCTCCTTG	0.517													15	50					0	0	0	0	G	118425293	C	G	118425293	3	3	315	1	0	0	0	0	1	0	0	0	1630	826	29	2	376	2	C10orf82	10	118425293	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	28957	118425293	17109454	130	56103											
OR51B2	79345	broad.mit.edu	37	chr11	5345347	5345347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcctgccagcatggtgaGgaagtagtacatgggctcat	9	10	14	8	0	1	1	1	1	0	0	1	2	1	2	2	3	4	4	2	3	3	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:5345347G>A	ENST00000328813.2	-	1	235	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATGGTGAGGAAGTAGTAC	0.512													14	94					0	0	0	0	A	5345347	G	A	5345347	3	1	315	1	0	0	0	0	1	0	0	0	11160	1000	35	4	761	4	OR51B2	11	5345347	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08		5345347	129661169	131	56104											
LRRC4C	57689	broad.mit.edu	37	chr11	40136643	40136643	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgagcacagctatccgcacTttgtacgccccatgtgtcat	8	11	8	14	2	1	1	1	1	0	0	2	1	2	1	3	0	3	4	3	0	2	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:40136643T>A	ENST00000278198.2	-	2	3163	c.1200A>T	c.(1198-1200)aaA>aaT	p.K400N	LRRC4C_ENST00000527150.1_Missense_Mutation_p.K400N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.K400N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.K400N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	400	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTATCCGCACTTTGTACGCCC	0.463													38	160					0	0	0	0	A	40136643	T	A	40136643	3	1	315	1	0	0	0	0	1	0	0	0	9072	1606	56	5	726	5	LRRC4C	11	40136643	Missense_Mutation	SNP	T	TCGA-CV-7424-01A-11D-2078-08	34791296	40136643	94869873	132	56105											
LRP4	4038	broad.mit.edu	37	chr11	46900560	46900560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacacaggtggctacagcCgccattctccatagcacatg	12	7	9	13	1	1	1	0	0	1	1	2	1	1	1	3	2	3	2	3	2	3	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:46900560C>T	ENST00000378623.1	-	22	3276	c.3034G>A	c.(3034-3036)Ggc>Agc	p.G1012S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1012					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.G1012C(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGGCTACAGCCGCCATTCTCC	0.567													10	195					0	0	0	0	T	46900560	C	T	46900560	3	4	315	1	0	0	0	0	1	0	0	0	9023	652	23	1	2751	1	LRP4	11	46900560	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	6763917	46900560	88105956	133	56106											
OR4C46	119749	broad.mit.edu	37	chr11	51515672	51515672	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgcaagcccttgcactatAtgactatcatgaaccagtgt	11	12	7	11	0	2	2	1	2	1	0	2	2	2	2	2	0	4	2	2	0	5	4	rs140334906		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:51515672A>C	ENST00000328188.1	+	1	391	c.391A>C	c.(391-393)Atg>Ctg	p.M131L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M131V(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTTGCACTATATGACTATCAT	0.478													46	120					0	0	0	0	C	51515672	A	C	51515672	3	2	315	1	0	0	0	0	1	0	0	0	11122	449	16	5	393	5	OR4C46	11	51515672	Missense_Mutation	SNP	A	TCGA-CV-7424-01A-11D-2078-08	4615112	51515672	83490844	134	56107											
OR5L1	219437	broad.mit.edu	37	chr11	55579363	55579363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatgtcttggaaggtgCgtgtggagctggcttcttgc	5	13	14	9	1	3	0	1	0	2	0	3	2	3	2	1	4	3	2	1	4	1	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:55579363C>T	ENST00000333973.2	+	1	510	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTGGAAGGTGCGTGTGGAGCT	0.498													32	113					0	0	0	0	T	55579363	C	T	55579363	3	4	315	1	0	0	0	0	1	0	0	0	11241	768	27	1	423	1	OR5L1	11	55579363	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	4063691	55579363	79427153	135	56108											
OR5R1	219479	broad.mit.edu	37	chr11	56185142	56185142	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttcatgtgtgtgtctgaGcaggacagagctaagaaggg	10	10	14	7	0	2	3	1	1	1	2	3	4	3	4	1	2	2	2	1	2	2	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:56185142G>A	ENST00000312253.1	-	1	566	c.567C>T	c.(565-567)tgC>tgT	p.C189C		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GTGTGTCTGAGCAGGACAGAG	0.428													14	61					0	0	0	0	A	56185142	G	A	56185142	2	1	315	1	0	0	0	0	0	0	0	1	11251	963	34	4		4	OR5R1	11	56185142	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	605779	56185142	78821374	136	56109											
OR10W1	81341	broad.mit.edu	37	chr11	58034658	58034658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggagaaggcccggtggcGgccagcagccgagtggatct	7	5	19	10	3	1	1	0	0	1	1	1	4	1	2	3	7	2	1	3	7	1	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:58034658G>T	ENST00000395079.2	-	1	1074	c.673C>A	c.(673-675)Cgc>Agc	p.R225S		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GCCCGGTGGCGGCCAGCAGCC	0.587													14	43					2.4624e-09	2.72834e-09	1	0	T	58034658	G	T	58034658	3	4	315	1	0	0	0	0	1	0	0	0	10992	1116	39	3	248	3	OR10W1	11	58034658	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	1849516	58034658	76971858	137	56110											
RTN3	10313	broad.mit.edu	37	chr11	63517599	63517599	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctggctcttctctctgtCaccatcagcttcaggatcta	7	14	6	14	0	7	0	3	0	4	0	9	1	8	1	2	2	1	2	2	2	1	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:63517599C>T	ENST00000377819.5	+	4	2821	c.2667C>T	c.(2665-2667)gtC>gtT	p.V889V	RTN3_ENST00000339997.4_Silent_p.V870V|RTN3_ENST00000356000.3_Silent_p.V112V|RTN3_ENST00000540798.1_Silent_p.V777V|RTN3_ENST00000537981.1_Silent_p.V93V|RTN3_ENST00000354497.4_Silent_p.V93V|RTN3_ENST00000341307.2_Silent_p.V93V	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	889	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTCTCTCTGTCACCATCAGCT	0.473													4	16					0	0	0	0	T	63517599	C	T	63517599	2	4	315	1	0	0	0	0	0	0	0	1	13812	813	29	2		2	RTN3	11	63517599	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08	5482941	63517599	71488917	138	56111											
BRMS1	25855	broad.mit.edu	37	chr11	66108786	66108786	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgcaaccgcagctgactCagtcgttccctgaacaacct	10	7	8	16	3	1	2	1	2	0	0	3	2	2	2	4	0	5	4	4	0	3	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:66108786C>A	ENST00000359957.3	-	4	409	c.249G>T	c.(247-249)ctG>ctT	p.L83L	BRMS1_ENST00000425825.2_Silent_p.L83L	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	83					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						GCAGCTGACTCAGTCGTTCCC	0.597													13	46					1.5842e-08	1.74136e-08	1	0	A	66108786	C	A	66108786	2	1	315	1	0	0	0	0	0	0	0	1	1524	813	29	2		2	BRMS1	11	66108786	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08	2591187	66108786	68897730	139	56112											
C2CD3	26005	broad.mit.edu	37	chr11	73789513	73789513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagcagcacacaatggatgGgcagccacagccttggggtg	11	5	14	11	0	0	0	0	0	0	0	0	1	0	1	2	4	4	3	2	4	2	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:73789513G>A	ENST00000334126.7	-	23	4476	c.4250C>T	c.(4249-4251)cCc>cTc	p.P1417L	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1417L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1417				P -> S (in Ref. 1; BAE17137).		centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACAATGGATGGGCAGCCACAG	0.493													26	52					0	0	0	0	A	73789513	G	A	73789513	3	1	315	1	0	0	0	0	1	0	0	0	2174	1232	43	4	1677	4	C2CD3	11	73789513	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	7680727	73789513	61217003	140	56113											
MOGAT2	80168	broad.mit.edu	37	chr11	75439149	75439149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatccttcacgctgttactgCggaaccgaaagggcttcgtc	8	10	11	12	4	1	0	1	0	0	0	4	3	2	1	2	2	3	3	2	2	3	3	rs144185928		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:75439149C>T	ENST00000526712.1	+	3	1137	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	MOGAT2_ENST00000198801.5_Missense_Mutation_p.R204W			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	204					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GCTGTTACTGCGGAACCGAAA	0.562													10	30					0	0	0	0	T	75439149	C	T	75439149	3	4	315	1	0	0	0	0	1	0	0	0	9765	759	27	1	624	1	MOGAT2	11	75439149	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	1649636	75439149	59567367	141	56114											
SYTL2	54843	broad.mit.edu	37	chr11	85456724	85456724	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctggctcttctacaacGccagccagctctggaggaag	8	10	10	13	1	5	0	0	0	5	0	5	2	5	2	2	3	4	2	2	3	3	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:85456724G>A	ENST00000316356.4	-	4	909	c.345C>T	c.(343-345)ggC>ggT	p.G115G	SYTL2_ENST00000389960.4_Silent_p.G115G|SYTL2_ENST00000524452.1_Silent_p.G115G|SYTL2_ENST00000528231.1_Silent_p.G115G|SYTL2_ENST00000527523.1_Silent_p.G67G			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	115					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTCTACAACGCCAGCCAGCT	0.517													25	102					0	0	0	0	A	85456724	G	A	85456724	2	1	315	1	0	0	0	0	0	0	0	1	15574	1074	38	1		1	SYTL2	11	85456724	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	10017575	85456724	49549792	142	56115											
DYNC2H1	79659	broad.mit.edu	37	chr11	103029735	103029735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccatcagtgattcagtctCacctgaagaagctttttgct	10	13	7	11	0	3	3	3	2	1	1	4	3	3	3	2	0	2	2	2	0	2	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:103029735C>T	ENST00000375735.2	+	28	4501	c.4357C>T	c.(4357-4359)Cac>Tac	p.H1453Y	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H1453Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1453	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATTCAGTCTCACCTGAAGAA	0.363													3	14					0	0	0	0	T	103029735	C	T	103029735	3	4	315	1	0	0	0	0	1	0	0	0	4882	826	29	2	4467	2	DYNC2H1	11	103029735	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	17573011	103029735	31976781	143	56116											
FGF23	8074	broad.mit.edu	37	chr12	4479716	4479716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggtcccgctccgagtcGtcctcggcgctccgggtgtg	2	8	17	14	6	0	0	0	0	0	0	6	1	4	0	4	4	0	2	4	4	0	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:4479716G>A	ENST00000237837.1	-	3	694	c.549C>T	c.(547-549)gaC>gaT	p.D183D		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	183					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GCTCCGAGTCGTCCTCGGCGC	0.682													11	47					0	0	0	0	A	4479716	G	A	4479716	2	1	315	1	0	0	0	0	0	0	0	1	5897	1136	40	1		1	FGF23	12	4479716	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08		4479716	129372179	144	56117											
KCNA6	3742	broad.mit.edu	37	chr12	4920723	4920723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacttccccgaggctaacCgggaacggagacccagctac	10	5	11	15	3	0	2	0	1	0	1	1	5	1	3	4	3	4	2	4	3	3	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:4920723C>T	ENST00000433855.1	+	1	2382	c.1516C>T	c.(1516-1518)Cgg>Tgg	p.R506W	KCNA6_ENST00000280684.3_Missense_Mutation_p.R506W	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	506						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CGAGGCTAACCGGGAACGGAG	0.612										HNSCC(72;0.22)			7	81					0	0	0	0	T	4920723	C	T	4920723	3	4	315	1	0	0	0	0	1	0	0	0	8060	643	23	1	1518	1	KCNA6	12	4920723	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	441007	4920723	128931172	145	56118											
C12orf36	283422	broad.mit.edu	37	chr12	13529255	13529255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatagtggagcatgaagtgtCttcatcaggaacacacagaa	16	8	10	7	0	3	2	2	1	1	1	3	4	3	4	0	2	2	1	0	2	5	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:13529255C>T	ENST00000318426.2	-	2	302	c.85G>A	c.(85-87)Gac>Aac	p.D29N	C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000539026.1_Missense_Mutation_p.D29N|C12orf36_ENST00000532841.1_Missense_Mutation_p.D29N|C12orf36_ENST00000527705.2_Missense_Mutation_p.D29N					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		catgaagtgtcttcatcagga	0.478													12	28					0	0	0	0	T	13529255	C	T	13529255	3	4	315	1	0	0	0	0	1	0	0	0	1695	913	32	2	339	2	C12orf36	12	13529255	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	8608532	13529255	120322640	146	56119											
SLCO1C1	53919	broad.mit.edu	37	chr12	20905254	20905254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctagacatatatatctggGactaactgtgatactgggca	12	13	9	7	0	2	2	0	1	2	1	2	3	2	3	0	2	2	1	0	2	6	7			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:20905254G>A	ENST00000266509.2	+	15	2299	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G595E|SLCO1C1_ENST00000381552.1_Silent_p.G678G|SLCO1C1_ENST00000545604.1_Silent_p.G678G|SLCO1C1_ENST00000545102.1_Silent_p.G560G	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	644					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					ATATATCTGGGACTAACTGTG	0.303													10	34					0	0	0	0	A	20905254	G	A	20905254	3	1	315	1	0	0	0	0	1	0	0	0	14813	1174	41	2	2088	2	SLCO1C1	12	20905254	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	7375999	20905254	112946641	147	56120											
R3HDM2	22864	broad.mit.edu	37	chr12	57660592	57660592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtactgctcagagccaggggGttgcagaaaccctacagaag	12	6	13	10	0	1	3	1	0	0	3	1	3	1	3	2	2	6	4	2	2	4	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:57660592G>A	ENST00000402412.1	-	19	2443	c.2053C>T	c.(2053-2055)Ccc>Tcc	p.P685S	R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000403821.2_Missense_Mutation_p.P705S|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Missense_Mutation_p.P366S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.P398S|R3HDM2_ENST00000393811.2_Missense_Mutation_p.P398S|R3HDM2_ENST00000358907.2_Missense_Mutation_p.P671S|R3HDM2_ENST00000347140.3_Missense_Mutation_p.P671S			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	671	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGCCAGGGGGTTGCAGAAAC	0.552													5	19					0	0	0	0	A	57660592	G	A	57660592	3	1	315	1	0	0	0	0	1	0	0	0	12970	1261	44	4	943	4	R3HDM2	12	57660592	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	36755338	57660592	76191303	148	56121											
NAV3	89795	broad.mit.edu	37	chr12	78516145	78516145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgtctggactgaccacagGcactcacgaggtccagagcc	9	7	11	14	1	2	2	1	1	1	1	3	4	3	3	3	3	1	1	3	3	0	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:78516145G>A	ENST00000397909.2	+	16	4348	c.4175G>A	c.(4174-4176)gGc>gAc	p.G1392D	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.G1392D|NAV3_ENST00000228327.6_Missense_Mutation_p.G1392D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1392	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGACCACAGGCACTCACGAG	0.547										HNSCC(70;0.22)			26	101					0	0	0	0	A	78516145	G	A	78516145	3	1	315	1	0	0	0	0	1	0	0	0	10255	1203	42	4	4237	4	NAV3	12	78516145	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	20855553	78516145	55335750	149	56122											
ACACB	32	broad.mit.edu	37	chr12	109660402	109660402	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaaaagcgagcactgcAaagtggccctcagagcccgg	12	4	13	12	2	1	2	1	1	0	1	1	3	1	2	2	2	5	3	2	2	3	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:109660402A>G	ENST00000338432.7	+	25	3774	c.3655A>G	c.(3655-3657)Aaa>Gaa	p.K1219E	ACACB_ENST00000377848.3_Missense_Mutation_p.K1219E|ACACB_ENST00000377854.5_Missense_Mutation_p.K1149E			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1219					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CGAGCACTGCAAAGTGGCCCT	0.622													5	34					0	0	0	0	G	109660402	A	G	109660402	3	3	315	1	0	0	0	0	1	0	0	0	107	131	5	5	3749	5	ACACB	12	109660402	Missense_Mutation	SNP	A	TCGA-CV-7424-01A-11D-2078-08	31144257	109660402	24191493	150	56123											
TUBA3C	7278	broad.mit.edu	37	chr13	19751321	19751321	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggggcgtaggtggccagggGgaagtggatgcgggggtacg	6	5	24	6	4	0	0	0	0	0	0	0	2	0	2	1	9	2	2	1	9	3	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr13:19751321G>C	ENST00000400113.3	-	4	906	c.802C>G	c.(802-804)Ccc>Gcc	p.P268A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	268					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GTGGCCAGGGGGAAGTGGATG	0.617													40	113					0	0	0	0	C	19751321	G	C	19751321	3	2	315	1	0	0	0	0	1	0	0	0	16842	1232	43	4	558	4	TUBA3C	13	19751321	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08		19751321	95418557	151	56124											
SPATA13	221178	broad.mit.edu	37	chr13	24868931	24868931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagaatgtggcctgtctGatcaacgagcgcaagcgcaa	13	7	12	9	3	2	3	1	2	1	1	2	4	2	3	1	1	3	2	1	1	5	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr13:24868931G>A	ENST00000424834.2	+	12	3608	c.3135G>A	c.(3133-3135)ctG>ctA	p.L1045L	SPATA13_ENST00000382095.4_Silent_p.L420L|SPATA13_ENST00000343003.6_Silent_p.L364L|SPATA13_ENST00000409126.1_Silent_p.L280L|SPATA13_ENST00000399949.2_Silent_p.L342L|SPATA13_ENST00000382108.3_Silent_p.L1045L			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	420					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGCCTGTCTGATCAACGAGC	0.488													6	67					0	0	0	0	A	24868931	G	A	24868931	2	1	315	1	0	0	0	0	0	0	0	1	15090	1277	45	2		2	SPATA13	13	24868931	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	5117610	24868931	90300947	152	56125											
FLT1	2321	broad.mit.edu	37	chr13	28959121	28959121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggtggaactgctgatggCcactgtgtgatcactgaggt	8	11	15	7	0	1	3	1	3	0	0	1	4	1	4	1	4	2	1	1	4	1	0	rs137937570		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr13:28959121C>T	ENST00000282397.4	-	14	2268	c.2017G>A	c.(2017-2019)Gcc>Acc	p.A673T	FLT1_ENST00000541932.1_Missense_Mutation_p.A673T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	673	Ig-like C2-type 7.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTGCTGATGGCCACTGTGTGA	0.448													26	73					0	0	0	0	T	28959121	C	T	28959121	3	4	315	1	0	0	0	0	1	0	0	0	5986	739	26	4	2157	4	FLT1	13	28959121	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	4090190	28959121	86210757	153	56126											
PDS5B	23047	broad.mit.edu	37	chr13	33247377	33247377	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaatcaggttctgatgcttGggaaaacatctatcagcgat	12	13	9	7	1	4	1	2	1	2	0	4	3	4	2	0	2	3	2	0	2	4	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr13:33247377G>C	ENST00000315596.10	+	8	916	c.730G>C	c.(730-732)Ggg>Cgg	p.G244R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	244					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TCTGATGCTTGGGAAAACATC	0.353													18	55					0	0	0	0	C	33247377	G	C	33247377	3	2	315	1	0	0	0	0	1	0	0	0	11763	1348	47	4	756	4	PDS5B	13	33247377	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	4288256	33247377	81922501	154	56127											
OR4N2	390429	broad.mit.edu	37	chr14	20295797	20295797	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccccctctatttctttctgGgcaacttggccttcctggat	4	15	7	15	0	3	0	0	0	3	0	4	1	4	1	5	3	1	1	5	3	2	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:20295797G>C	ENST00000568211.1	+	1	190	c.190G>C	c.(190-192)Ggc>Cgc	p.G64R	OR4N2_ENST00000315947.1_Missense_Mutation_p.G64R			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	64					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)		TTTCTTTCTGGGCAACTTGGC	0.468													132	616					0	0	0	0	C	20295797	G	C	20295797	3	2	315	1	0	0	0	0	1	0	0	0	11148	1232	43	4	192	4	OR4N2	14	20295797	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08		20295797	87053743	155	56128											
OR4E2	26686	broad.mit.edu	37	chr14	22134074	22134074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtatcttcatctatactCggccagacaccagcttctcc	9	12	5	15	1	4	1	1	0	3	1	6	1	4	1	3	1	2	2	3	1	3	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:22134074C>T	ENST00000408935.1	+	1	778	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CATCTATACTCGGCCAGACAC	0.512													36	39					0	0	0	0	T	22134074	C	T	22134074	3	4	315	1	0	0	0	0	1	0	0	0	11131	875	31	1	780	1	OR4E2	14	22134074	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	1838277	22134074	85215466	156	56129											
LTB4R	1241	broad.mit.edu	37	chr14	24785327	24785327	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgtcctcgcgtaccgcaCagtagtgccctggaaaacga	10	6	10	15	5	0	0	0	0	0	0	2	2	1	1	4	1	3	3	4	1	4	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:24785327C>G	ENST00000396789.4	+	2	2195	c.470C>G	c.(469-471)aCa>aGa	p.T157R	LTB4R_ENST00000345363.3_Missense_Mutation_p.T157R|LTB4R_ENST00000396782.2_Missense_Mutation_p.T157R	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	157					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GCGTACCGCACAGTAGTGCCC	0.632													68	41					0	0	0	0	G	24785327	C	G	24785327	3	3	315	1	0	0	0	0	1	0	0	0	9135	478	17	4	472	4	LTB4R	14	24785327	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	2651253	24785327	82564213	157	56130											
TSHR	7253	broad.mit.edu	37	chr14	81609450	81609450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggatactcataacaacGctcattattacgtcttcttt	11	15	4	11	2	4	0	2	0	2	0	5	1	5	1	1	1	4	1	1	1	5	6			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:81609450G>A	ENST00000541158.2	+	11	1370	c.1048G>A	c.(1048-1050)Gct>Act	p.A350T	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.A350T			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	350					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCATAACAACGCTCATTATTA	0.448			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						16	78					0	0	0	0	A	81609450	G	A	81609450	3	1	315	1	0	0	0	0	1	0	0	0	16717	1087	38	1	1223	1	TSHR	14	81609450	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	56824123	81609450	25740090	158	56131											
TRIP11	9321	broad.mit.edu	37	chr14	92491671	92491671	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctctttttgttgaagttGatttcggtaacttgtagatt	8	20	8	5	1	1	3	0	2	1	1	2	3	1	3	1	1	2	4	1	1	4	10			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:92491671G>A	ENST00000267622.4	-	3	668	c.295C>T	c.(295-297)Caa>Taa	p.Q99*		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	99					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGTTGAAGTTGATTTCGGTAA	0.308			T	PDGFRB	AML								12	20					0	0	0	0	A	92491671	G	A	92491671	4	1	315	1	0	0	0	0	0	1	0	0	16650	1299	45	2	5720	2	TRIP11	14	92491671	Nonsense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	10882221	92491671	14857869	159	56132											
AHNAK2	113146	broad.mit.edu	37	chr14	105416847	105416847	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcagtcaccgccttgtcGgccagggacaggtccccctc	5	8	12	16	2	1	0	1	0	0	0	4	1	2	1	5	4	0	1	5	4	0	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:105416847G>A	ENST00000333244.5	-	7	5060	c.4941C>T	c.(4939-4941)gcC>gcT	p.A1647A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1647						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGCCTTGTCGGCCAGGGACA	0.607													143	128					0	0	0	0	A	105416847	G	A	105416847	2	1	315	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105416847	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	12925176	105416847	1932693	160	56133											
FAM98B	283742	broad.mit.edu	37	chr15	38773502	38773502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcatttaggtaaaaacaGatgatatagcaagaatttat	17	14	7	3	0	1	3	1	1	0	2	1	3	1	3	0	1	2	2	0	1	9	8			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr15:38773502G>T	ENST00000397609.2	+	7	774	c.739G>T	c.(739-741)Gat>Tat	p.D247Y	FAM98B_ENST00000491535.1_Missense_Mutation_p.D247Y	NM_173611.2	NP_775882.2	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	247						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GGTAAAAACAGATGATATAGC	0.328													9	44					7.48243e-07	8.03346e-07	1	0	T	38773502	G	T	38773502	3	4	315	1	0	0	0	0	1	0	0	0	5702	942	33	2	765	2	FAM98B	15	38773502	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08		38773502	63757890	161	56134											
PRTG	283659	broad.mit.edu	37	chr15	55933315	55933315	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggctttcacttacacacGcatcctggagtgctgacagt	9	11	9	12	1	1	1	1	1	0	0	2	2	2	2	1	2	2	3	1	2	1	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr15:55933315G>A	ENST00000389286.4	-	12	2180	c.2133C>T	c.(2131-2133)tgC>tgT	p.C711C		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	711					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACTTACACACGCATCCTGGAG	0.448													4	33					0	0	0	0	A	55933315	G	A	55933315	2	1	315	1	0	0	0	0	0	0	0	1	12717	1079	38	1		1	PRTG	15	55933315	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	17159813	55933315	46598077	162	56135											
NR2F2	7026	broad.mit.edu	37	chr15	96880846	96880846	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actggccgtatatggcaattCaataaataaataaaataaga	20	10	6	5	1	1	1	1	0	0	1	1	1	1	1	1	2	0	2	1	2	11	7			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr15:96880846C>T	ENST00000394166.3	+	3	2629	c.1240C>T	c.(1240-1242)Caa>Taa	p.Q414*	NR2F2_ENST00000453270.2_Nonsense_Mutation_p.Q261*|NR2F2_ENST00000394171.2_Nonsense_Mutation_p.Q261*|NR2F2_ENST00000421109.2_Nonsense_Mutation_p.Q281*	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	414	Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TATGGCAATTCAATAAATAAA	0.378													14	111					0	0	0	0	T	96880846	C	T	96880846	4	4	315	1	0	0	0	0	0	1	0	0	10699	827	29	2	1297	2	NR2F2	15	96880846	Nonsense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	40947531	96880846	5650546	163	56136											
PKD1	5310	broad.mit.edu	37	chr16	2164217	2164217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggggctgggcgtggcgCggaggccacagatgggctcc	4	5	19	13	4	0	1	0	0	0	1	2	2	1	2	3	7	0	2	3	7	0	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:2164217C>T	ENST00000262304.4	-	11	3015	c.2807G>A	c.(2806-2808)cGc>cAc	p.R936H	PKD1_ENST00000423118.1_Missense_Mutation_p.R936H	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	936	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGCGTGGCGCGGAGGCCACA	0.697													3	29					0	0	0	0	T	2164217	C	T	2164217	3	4	315	1	0	0	0	0	1	0	0	0	12035	768	27	1	10248	1	PKD1	16	2164217	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08		2164217	88190536	164	56137											
ABCC6	368	broad.mit.edu	37	chr16	16256934	16256934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacaaagggggcctgggttCggaatgcccggaccactgtg	8	6	15	12	2	0	0	0	0	0	0	1	2	0	2	4	5	1	1	4	5	2	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:16256934C>T	ENST00000205557.7	-	24	3451	c.3422G>A	c.(3421-3423)cGa>cAa	p.R1141Q		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1141	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGCCTGGGTTCGGAATGCCCG	0.597													18	75					0	0	0	0	T	16256934	C	T	16256934	3	4	315	1	0	0	0	0	1	0	0	0	57	884	31	1	1121	1	ABCC6	16	16256934	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	14092717	16256934	74097819	165	56138											
PRKCB	5579	broad.mit.edu	37	chr16	24202473	24202473	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggcgaacgtgatatcaaAgagcatgcatttttccggta	13	10	11	7	3	1	2	1	1	0	1	2	4	2	2	1	2	3	3	1	2	5	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:24202473A>T	ENST00000303531.7	+	16	1937	c.1785A>T	c.(1783-1785)aaA>aaT	p.K595N	PRKCB_ENST00000321728.7_Missense_Mutation_p.K595N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	595	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GTGATATCAAAGAGCATGCAT	0.443													6	94					0	0	0	0	T	24202473	A	T	24202473	3	4	315	1	0	0	0	0	1	0	0	0	12588	69	3	5	1847	5	PRKCB	16	24202473	Missense_Mutation	SNP	A	TCGA-CV-7424-01A-11D-2078-08	7945539	24202473	66152280	166	56139											
ZNF646	9726	broad.mit.edu	37	chr16	31090886	31090886	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagactggagactttctcTgccctgtctgctcccgctgc	5	11	9	16	1	2	2	0	0	2	2	4	3	3	2	3	1	3	2	3	1	0	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:31090886T>G	ENST00000394979.2	+	1	3664	c.3241T>G	c.(3241-3243)Tgc>Ggc	p.C1081G	ZNF646_ENST00000300850.5_Missense_Mutation_p.C1081G			O15015	ZN646_HUMAN	zinc finger protein 646	1081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGACTTTCTCTGCCCTGTCTG	0.627													38	133					0	0	0	0	G	31090886	T	G	31090886	3	3	315	1	0	0	0	0	1	0	0	0	18157	1580	55	5	3243	5	ZNF646	16	31090886	Missense_Mutation	SNP	T	TCGA-CV-7424-01A-11D-2078-08	6888413	31090886	59263867	167	56140											
ZNF423	23090	broad.mit.edu	37	chr16	49670062	49670062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagtgctcaataaactcctCctcgctctgcaggggcatct	8	10	9	14	1	3	0	1	0	2	0	6	0	5	0	2	2	3	5	2	2	3	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:49670062C>T	ENST00000561648.1	-	4	3054	c.3001G>A	c.(3001-3003)Gag>Aag	p.E1001K	ZNF423_ENST00000535559.1_Missense_Mutation_p.E884K|ZNF423_ENST00000567169.1_Missense_Mutation_p.E884K|ZNF423_ENST00000563137.2_Missense_Mutation_p.E941K|ZNF423_ENST00000562520.1_Missense_Mutation_p.E941K|ZNF423_ENST00000262383.2_Missense_Mutation_p.E1001K|ZNF423_ENST00000562871.1_Missense_Mutation_p.E941K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1001					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATAAACTCCTCCTCGCTCTGC	0.592													5	29					0	0	0	0	T	49670062	C	T	49670062	3	4	315	1	0	0	0	0	1	0	0	0	17993	864	30	2	873	2	ZNF423	16	49670062	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	18579176	49670062	40684691	168	56141											
CDH8	1006	broad.mit.edu	37	chr16	61687979	61687979	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttcatttttatgccgccGtagagttacaaacagcacca	11	12	8	10	2	1	1	1	0	0	1	1	1	1	1	3	1	4	4	3	1	4	6			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:61687979G>T	ENST00000577390.1	-	12	2887	c.1933C>A	c.(1933-1935)Cgg>Agg	p.R645R	CDH8_ENST00000299345.6_Silent_p.R645R|CDH8_ENST00000577730.1_Silent_p.R645R	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	645					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTATGCCGCCGTAGAGTTACA	0.383													10	53					3.86212e-05	4.0523e-05	1	0	T	61687979	G	T	61687979	2	4	315	1	0	0	0	0	0	0	0	1	3145	1144	40	3		3	CDH8	16	61687979	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	12017917	61687979	28666774	169	56142											
CHST4	10164	broad.mit.edu	37	chr16	71571468	71571468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtatgaattcgtgggattGgaattcttgccccatcttca	9	15	9	8	1	3	1	1	1	2	0	4	3	3	3	2	2	1	1	2	2	3	6			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:71571468G>T	ENST00000338482.5	+	3	1231	c.888G>T	c.(886-888)ttG>ttT	p.L296F	CHST4_ENST00000572450.1_Missense_Mutation_p.L296F|RP11-510M2.9_ENST00000572693.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.L296F			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	296					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TCGTGGGATTGGAATTCTTGC	0.567											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	36					2.27111e-07	2.45741e-07	1	0	T	71571468	G	T	71571468	3	4	315	1	0	0	0	0	1	0	0	0	3435	1339	47	4	890	4	CHST4	16	71571468	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	9883489	71571468	18783285	170	56143											
MON1B	22879	broad.mit.edu	37	chr16	77228545	77228545	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgagacgcactaggtgcGctcctccgacgttgcacagc	7	7	12	15	5	0	1	0	0	0	1	2	3	2	1	2	1	4	4	2	1	1	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:77228545G>T	ENST00000248248.3	+	4	1139	c.789G>T	c.(787-789)gcG>gcT	p.A263A	MON1B_ENST00000545553.1_Silent_p.A117A|MON1B_ENST00000439557.2_Silent_p.A154A|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	263							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CACTAGGTGCGCTCCTCCGAC	0.657													9	37					5.4927e-09	6.06167e-09	1	0	T	77228545	G	T	77228545	2	4	315	1	0	0	0	0	0	0	0	1	9769	1074	38	3		3	MON1B	16	77228545	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	5657077	77228545	13126208	171	56144											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	3	14	11	13	1	0	0	0	0	0	0	3	0	2	0	3	2	4	5	3	2	2	4	rs121913344		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	39					0	0	0	0	A	7577022	G	A	7577022	4	1	315	1	0	0	0	0	0	1	0	0	16476	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08		7577022	73618188	172	56145											
MYH1	4619	broad.mit.edu	37	chr17	10412811	10412811	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaagccaaccttctcgatGagctcgatgcaggcagccag	11	6	11	13	2	1	1	0	1	1	0	3	3	1	1	3	1	6	4	3	1	2	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:10412811G>C	ENST00000226207.5	-	15	1672	c.1578C>G	c.(1576-1578)ctC>ctG	p.L526L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	526	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTTCTCGATGAGCTCGATGC	0.443													42	45					0	0	0	0	C	10412811	G	C	10412811	2	2	315	1	0	0	0	0	0	0	0	1	10099	1277	45	2		2	MYH1	17	10412811	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	2835789	10412811	70782399	173	56146											
SLFN5	162394	broad.mit.edu	37	chr17	33592764	33592764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacattgtgttggacagtGtctgtcgattttcaggcctg	7	15	11	8	1	3	0	2	0	1	0	4	2	3	1	1	2	0	1	1	2	0	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:33592764G>A	ENST00000299977.4	+	5	2681	c.2533G>A	c.(2533-2535)Gtc>Atc	p.V845I	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	845					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTTGGACAGTGTCTGTCGATT	0.488													13	88					0	0	0	0	A	33592764	G	A	33592764	3	1	315	1	0	0	0	0	1	0	0	0	14825	1377	48	4	2547	4	SLFN5	17	33592764	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	23179953	33592764	47602446	174	56147											
JUP	3728	broad.mit.edu	37	chr17	39914709	39914709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcggttcatggggtccCgggcgaggatgtgcagtgct	5	9	17	10	3	1	0	1	0	0	0	2	2	2	1	2	5	3	3	2	5	0	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:39914709C>T	ENST00000393931.3	-	10	1833	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	JUP_ENST00000310706.5_Missense_Mutation_p.R572Q|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.R572Q	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	572					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CATGGGGTCCCGGGCGAGGAT	0.627													10	47					0	0	0	0	T	39914709	C	T	39914709	3	4	315	1	0	0	0	0	1	0	0	0	8025	652	23	1	542	1	JUP	17	39914709	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	6321945	39914709	41280501	175	56148											
BRCA1	672	broad.mit.edu	37	chr17	41276072	41276072	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttctgcatagcattaatGacattttgtacttcttcaac	11	18	4	8	0	3	1	1	1	2	0	3	1	3	1	0	0	4	3	0	0	4	9	rs80356827		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:41276072G>A	ENST00000357654.3	-	2	160	c.42C>T	c.(40-42)gtC>gtT	p.V14V	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_5'UTR|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Silent_p.V14V|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Silent_p.V14V|BRCA1_ENST00000351666.3_Silent_p.V14V|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000471181.2_Silent_p.V14V|BRCA1_ENST00000354071.3_Silent_p.V14V|BRCA1_ENST00000468300.1_Silent_p.V14V|BRCA1_ENST00000346315.3_Silent_p.V14V	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	14					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TAGCATTAATGACATTTTGTA	0.318			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			5	60					0	0	0	0	A	41276072	G	A	41276072	2	1	315	1	0	0	0	0	0	0	0	1	1506	1277	45	2		2	BRCA1	17	41276072	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	1361363	41276072	39919138	176	56149											
ITGA2B	3674	broad.mit.edu	37	chr17	42466667	42466667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggctcacctcccatggctgtCcttgtggaagtccagtgaaa	8	10	11	12	0	1	1	1	1	0	0	4	2	4	2	4	3	0	2	4	3	2	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:42466667C>G	ENST00000262407.5	-	1	206	c.175G>C	c.(175-177)Gac>Cac	p.D59H	ITGA2B_ENST00000353281.4_Missense_Mutation_p.D59H	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	59					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CCATGGCTGTCCTTGTGGAAG	0.587													17	154					0	0	0	0	G	42466667	C	G	42466667	3	3	315	1	0	0	0	0	1	0	0	0	7929	855	30	2	3064	2	ITGA2B	17	42466667	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	1190595	42466667	38728543	177	56150											
MTMR4	9110	broad.mit.edu	37	chr17	56581705	56581705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacaggcaggggaactgctTaagcaactgatgaacagaat	17	6	11	7	0	0	3	0	2	0	1	0	4	0	4	0	3	6	3	0	3	6	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:56581705T>C	ENST00000323456.5	-	13	1568	c.1444A>G	c.(1444-1446)Aag>Gag	p.K482E	MTMR4_ENST00000579925.1_Missense_Mutation_p.K482E	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	482	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGAACTGCTTAAGCAACTGA	0.517													10	96					0	0	0	0	C	56581705	T	C	56581705	3	2	315	1	0	0	0	0	1	0	0	0	10016	1763	61	5	2171	5	MTMR4	17	56581705	Missense_Mutation	SNP	T	TCGA-CV-7424-01A-11D-2078-08	14115038	56581705	24613505	178	56151											
SLC39A11	201266	broad.mit.edu	37	chr17	70645045	70645045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcagccagcaccacggCaaaggcaccaaagaccccgg	12	1	12	16	2	1	1	1	0	0	1	1	1	1	1	5	4	2	4	5	4	2	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:70645045C>A	ENST00000542342.2	-	9	935	c.847G>T	c.(847-849)Gcc>Tcc	p.A283S	SLC39A11_ENST00000255559.3_Missense_Mutation_p.A276S|SLC39A11_ENST00000579988.1_5'UTR	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	283					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AGCACCACGGCAAAGGCACCA	0.622													11	18					1.61879e-10	1.80082e-10	1	0	A	70645045	C	A	70645045	3	1	315	1	0	0	0	0	1	0	0	0	14702	710	25	4	189	4	SLC39A11	17	70645045	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	14063340	70645045	10550165	179	56152											
FDXR	2232	broad.mit.edu	37	chr17	72860034	72860034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacctggcacatccataacCcggccctccacattggggat	9	8	8	16	1	1	0	1	0	0	0	3	1	3	1	5	4	1	1	5	4	1	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:72860034C>A	ENST00000455107.2	-	10	1522	c.1106G>T	c.(1105-1107)gGg>gTg	p.G369V	FDXR_ENST00000544854.1_Silent_p.R334R|FDXR_ENST00000581530.1_Silent_p.R392R|FDXR_ENST00000442102.2_Silent_p.R429R|FDXR_ENST00000293195.5_Silent_p.R386R|FDXR_ENST00000413947.2_Silent_p.R417R|FDXR_ENST00000582944.1_Silent_p.R378R|FDXR_ENST00000583917.1_Silent_p.R358R|FDXR_ENST00000420580.2_Silent_p.R346R			P22570	ADRO_HUMAN	ferredoxin reductase	0					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CATCCATAACCCGGCCCTCCA	0.587													48	147					1.30409e-13	1.46248e-13	1	0	A	72860034	C	A	72860034	3	1	315	1	0	0	0	0	1	0	0	0	5852	610	22	4	329	4	FDXR	17	72860034	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	2214989	72860034	8335176	180	56153											
OTOP2	92736	broad.mit.edu	37	chr17	72923807	72923807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctggccatctggatggCggccgtggtggatgaatctg	7	9	15	10	2	2	1	0	1	2	0	2	3	2	3	3	6	1	0	3	6	2	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:72923807C>A	ENST00000331427.4	+	5	649	c.557C>A	c.(556-558)gCg>gAg	p.A186E	OTOP2_ENST00000580223.1_Missense_Mutation_p.A186E	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	186						integral to membrane		p.A186V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ATCTGGATGGCGGCCGTGGTG	0.577													19	46					8.34094e-07	8.92061e-07	1	0	A	72923807	C	A	72923807	3	1	315	1	0	0	0	0	1	0	0	0	11377	768	27	3	571	3	OTOP2	17	72923807	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	63773	72923807	8271403	181	56154											
UBE2O	63893	broad.mit.edu	37	chr17	74392380	74392380	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctacgtcgggcactgcttCcatcttctcctcctctacaa	6	13	5	17	2	4	0	0	0	4	0	8	0	6	0	3	1	3	2	3	1	3	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:74392380C>A	ENST00000319380.7	-	14	2702	c.2638G>T	c.(2638-2640)Gaa>Taa	p.E880*		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	880							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGCACTGCTTCCATCTTCTCC	0.567													85	146					2.93434e-44	3.41517e-44	1	0	A	74392380	C	A	74392380	4	1	315	1	0	0	0	0	0	1	0	0	16964	864	30	2	1260	2	UBE2O	17	74392380	Nonsense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	1468573	74392380	6802830	182	56155											
UTS2R	2837	broad.mit.edu	37	chr17	80333144	80333144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcgccaaccccttcctctAcacgctgctcaccaggaact	8	8	6	19	2	2	0	1	0	1	0	3	1	3	1	5	1	5	2	5	1	3	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:80333144A>G	ENST00000313135.2	+	1	992	c.944A>G	c.(943-945)tAc>tGc	p.Y315C		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	315						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CCCTTCCTCTACACGCTGCTC	0.736													5	4					0	0	0	0	G	80333144	A	G	80333144	3	3	315	1	0	0	0	0	1	0	0	0	17202	391	14	5	946	5	UTS2R	17	80333144	Missense_Mutation	SNP	A	TCGA-CV-7424-01A-11D-2078-08	5940764	80333144	862066	183	56156											
YES1	7525	broad.mit.edu	37	chr18	756831	756831	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttaatgcagcccattatCaaatctacagagacaataaa	17	11	4	9	0	2	1	1	0	1	1	2	2	2	1	1	0	3	1	1	0	7	5			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr18:756831C>G	ENST00000577961.1	-	2	82	c.12G>C	c.(10-12)ttG>ttC	p.L4F	YES1_ENST00000577611.1_5'UTR|YES1_ENST00000314574.4_5'UTR|YES1_ENST00000584307.1_5'UTR			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	0					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	AGCCCATTATCAAATCTACAG	0.343													11	42					0	0	0	0	G	756831	C	G	756831	3	3	315	1	0	0	0	0	1	0	0	0	17570	841	29	2		2	YES1	18	756831	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08		756831	77320417	184	56157											
ZNF521	25925	broad.mit.edu	37	chr18	22804524	22804524	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcagattctcattctGgcccaagcctggtctattcg	7	12	9	13	1	4	1	2	0	3	1	6	1	4	1	2	3	1	1	2	3	2	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr18:22804524G>A	ENST00000361524.3	-	4	3506	c.3358C>T	c.(3358-3360)Cag>Tag	p.Q1120*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.Q900*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.Q1120*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1120					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTCTCATTCTGGCCCAAGCCT	0.552			T	PAX5	ALL								6	38					0	0	0	0	A	22804524	G	A	22804524	4	1	315	1	0	0	0	0	0	1	0	0	18060	1357	47	4	597	4	ZNF521	18	22804524	Nonsense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	22047693	22804524	55272724	185	56158											
ZNRF4	148066	broad.mit.edu	37	chr19	5455848	5455848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcggtggactttgcggatCtgccggcgctgttcggcgtc	2	11	16	12	6	1	0	0	0	1	0	4	2	1	2	1	5	2	3	1	5	0	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:5455848C>G	ENST00000222033.4	+	1	423	c.346C>G	c.(346-348)Ctg>Gtg	p.L116V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	116						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTTTGCGGATCTGCCGGCGCT	0.672													16	87					0	0	0	0	G	5455848	C	G	5455848	3	3	315	1	0	0	0	0	1	0	0	0	18307	912	32	2	348	2	ZNRF4	19	5455848	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08		5455848	53673135	186	56159											
FCER2	2208	broad.mit.edu	37	chr19	7754154	7754154	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaggtcccatggactcCgcggaaccttcgctggctgg	7	8	13	13	3	1	0	1	0	0	0	4	3	3	2	3	5	1	2	3	5	2	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:7754154C>A	ENST00000346664.5	-	11	1103	c.891G>T	c.(889-891)gcG>gcT	p.A297A	FCER2_ENST00000597921.1_Silent_p.A297A|FCER2_ENST00000360067.4_Silent_p.A296A	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	297					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CCATGGACTCCGCGGAACCTT	0.677													7	23					0.000157383	0.000163892	1	0	A	7754154	C	A	7754154	2	1	315	1	0	0	0	0	0	0	0	1	5821	639	23	3		3	FCER2	19	7754154	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08	2298306	7754154	51374829	187	56160											
MUC16	94025	broad.mit.edu	37	chr19	9006359	9006359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcacctgagcaaggtcagtCtgcagccagaatacagaggg	12	6	12	11	0	3	3	2	1	1	2	3	3	3	3	2	2	4	2	2	2	3	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:9006359C>G	ENST00000397910.4	-	45	39862	c.39659G>C	c.(39658-39660)aGa>aCa	p.R13220T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13222	SEA 8.				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						CAAGGTCAGTCTGCAGCCAGA	0.512													18	58					0	0	0	0	G	9006359	C	G	9006359	3	3	315	1	0	0	0	0	1	0	0	0	10043	913	32	2	4024	2	MUC16	19	9006359	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	1252205	9006359	50122624	188	56161											
MUC16	94025	broad.mit.edu	37	chr19	9065156	9065156	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacacctcagtagtcttcacTtggcctggtgtgagaagtga	10	11	11	9	0	3	2	2	2	1	1	3	3	3	2	2	2	1	1	2	2	3	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:9065156T>C	ENST00000397910.4	-	3	22493	c.22290A>G	c.(22288-22290)caA>caG	p.Q7430Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7432	Ser-rich.|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						TAGTCTTCACTTGGCCTGGTG	0.488													18	44					0	0	0	0	C	9065156	T	C	9065156	2	2	315	1	0	0	0	0	0	0	0	1	10043	1606	56	5		5	MUC16	19	9065156	Silent	SNP	T	TCGA-CV-7424-01A-11D-2078-08	58797	9065156	50063827	189	56162											
ZNF627	199692	broad.mit.edu	37	chr19	11727528	11727528	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcatattccagagagactCtgtgaaagtaaagaaggtgg	15	9	12	5	0	2	4	1	1	1	3	3	5	3	4	1	2	0	1	1	2	5	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:11727528C>T	ENST00000361113.5	+	4	418	c.210C>T	c.(208-210)ctC>ctT	p.L70L	ZNF627_ENST00000588174.1_Silent_p.L67L	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CAGAGAGACTCTGTGAAAGTA	0.328													10	86					0	0	0	0	T	11727528	C	T	11727528	2	4	315	1	0	0	0	0	0	0	0	1	18146	900	32	2		2	ZNF627	19	11727528	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08	2662372	11727528	47401455	190	56163											
EPS15L1	58513	broad.mit.edu	37	chr19	16528779	16528779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgggccgggcgtgcctctctCcgaaggcgggaccatgtccg	4	6	16	15	6	1	0	0	0	1	0	4	2	3	1	5	4	1	0	5	4	1	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:16528779C>T	ENST00000602009.1	-	5	1520	c.625G>A	c.(625-627)Gag>Aag	p.E209K	EPS15L1_ENST00000455140.2_Missense_Mutation_p.E363K|EPS15L1_ENST00000535753.2_Missense_Mutation_p.E363K|EPS15L1_ENST00000597937.1_Missense_Mutation_p.E363K|EPS15L1_ENST00000594975.1_Missense_Mutation_p.E363K|EPS15L1_ENST00000248070.6_Missense_Mutation_p.E363K			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	363	EH 2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GTGCCTCTCTCCGAAGGCGGG	0.592											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	69					0	0	0	0	T	16528779	C	T	16528779	3	4	315	1	0	0	0	0	1	0	0	0	5231	864	30	2	1559	2	EPS15L1	19	16528779	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	4801251	16528779	42600204	191	56164											
UNC13A	23025	broad.mit.edu	37	chr19	17766855	17766855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctggcgggaggctgatgcGtttgaagtctttgggctcag	6	11	17	7	2	2	2	1	2	1	0	2	3	2	3	0	4	2	4	0	4	1	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:17766855G>A	ENST00000428389.2	-	11	1383	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C	UNC13A_ENST00000519716.2_Missense_Mutation_p.R374C|UNC13A_ENST00000552293.1_Missense_Mutation_p.R374C|UNC13A_ENST00000252773.7_Missense_Mutation_p.R374C|UNC13A_ENST00000551649.1_Missense_Mutation_p.R374C|UNC13A_ENST00000550896.1_Missense_Mutation_p.R374C			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	374					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGGCTGATGCGTTTGAAGTCT	0.652													3	4					0	0	0	0	A	17766855	G	A	17766855	3	1	315	1	0	0	0	0	1	0	0	0	17080	1145	40	1	4123	1	UNC13A	19	17766855	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	1238076	17766855	41362128	192	56165											
ZNF208	7757	broad.mit.edu	37	chr19	22171649	22171649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaattctgctgtgcagtGtccaggcattgccactcctc	8	13	8	12	0	1	0	0	0	1	0	4	0	3	0	3	1	3	3	3	1	3	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:22171649G>T	ENST00000397126.4	-	2	214	c.66C>A	c.(64-66)gaC>gaA	p.D22E	ZNF208_ENST00000601773.1_Missense_Mutation_p.D22E|ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000599916.1_Missense_Mutation_p.D22E	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCTGTGCAGTGTCCAGGCATT	0.398													37	189					2.20474e-14	2.4927e-14	1	0	T	22171649	G	T	22171649	3	4	315	1	0	0	0	0	1	0	0	0	17861	1368	48	4	3788	4	ZNF208	19	22171649	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	4404794	22171649	36957334	193	56166											
ZNF681	148213	broad.mit.edu	37	chr19	23938239	23938239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctcacccaagaagaccaGgtttctgtagttctctaaca	12	11	6	12	0	3	2	1	0	2	2	5	2	4	2	3	1	1	3	3	1	4	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:23938239G>T	ENST00000402377.3	-	2	259	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGAAGACCAGGTTTCTGTAG	0.353													19	139					5.03518e-11	5.62397e-11	1	0	T	23938239	G	T	23938239	3	4	315	1	0	0	0	0	1	0	0	0	18183	991	35	4	1831	4	ZNF681	19	23938239	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	1766590	23938239	35190744	194	56167											
ZNF527	84503	broad.mit.edu	37	chr19	37880679	37880679	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactacaccagagaattcaCgctggagaaaaaccttataa	18	7	7	9	1	1	3	1	0	0	3	1	5	1	3	2	1	2	1	2	1	6	4			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:37880679C>T	ENST00000436120.2	+	5	1835	c.1728C>T	c.(1726-1728)caC>caT	p.H576H	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAATTCACGCTGGAGAAA	0.388													15	63					0	0	0	0	T	37880679	C	T	37880679	2	4	315	1	0	0	0	0	0	0	0	1	18063	535	19	1		1	ZNF527	19	37880679	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08	13942440	37880679	21248304	195	56168											
FKRP	79147	broad.mit.edu	37	chr19	47258781	47258781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctggtcctcttctatgtctCgtggctgcagcaccagccta	5	13	9	14	1	4	0	0	0	4	0	6	0	5	0	3	2	3	3	3	2	2	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:47258781C>T	ENST00000318584.5	+	4	371	c.74C>T	c.(73-75)tCg>tTg	p.S25L	FKRP_ENST00000391909.3_Missense_Mutation_p.S25L|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	25						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TTCTATGTCTCGTGGCTGCAG	0.701													4	22					0	0	0	0	T	47258781	C	T	47258781	3	4	315	1	0	0	0	0	1	0	0	0	5962	893	31	1	76	1	FKRP	19	47258781	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	9378102	47258781	11870202	196	56169											
TPRX1	284355	broad.mit.edu	37	chr19	48305438	48305438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccttggagtctgcctgggCctgggatctgggctgggctg	2	10	19	10	0	2	0	0	0	2	0	2	2	2	2	3	6	1	2	3	6	0	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:48305438C>T	ENST00000535759.1	-	4	1120	c.1121G>A	c.(1120-1122)gGc>gAc	p.G374D	TPRX1_ENST00000543508.1_Missense_Mutation_p.G267D|TPRX1_ENST00000322175.3_Missense_Mutation_p.G277D			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	277						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TCTGCCTGGGCCTGGGATCTG	0.642													10	19					0	0	0	0	T	48305438	C	T	48305438	3	4	315	1	0	0	0	0	1	0	0	0	16517	739	26	4	409	4	TPRX1	19	48305438	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	1046657	48305438	10823545	197	56170											
TSKS	60385	broad.mit.edu	37	chr19	50266465	50266465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccccggcctcatggatctCtttggactgccagatcgtct	5	12	10	14	2	3	1	1	0	2	1	6	3	4	3	4	3	1	0	4	3	0	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:50266465C>G	ENST00000246801.3	-	1	122	c.40G>C	c.(40-42)Gag>Cag	p.E14Q		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	14							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TCATGGATCTCTTTGGACTGC	0.657													32	61					0	0	0	0	G	50266465	C	G	50266465	3	3	315	1	0	0	0	0	1	0	0	0	16721	922	32	2	1782	2	TSKS	19	50266465	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	1961027	50266465	8862518	198	56171											
ZNF616	90317	broad.mit.edu	37	chr19	52619089	52619089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgcttactgtacaccttgCcacatttattgcatttgtaa	11	16	5	9	0	0	0	0	0	0	0	0	0	0	0	2	0	5	4	2	0	5	8			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:52619089C>A	ENST00000600228.1	-	4	1589	c.1328G>T	c.(1327-1329)gGc>gTc	p.G443V	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTACACCTTGCCACATTTATT	0.388													13	148					0.0135373	0.0137356	1	0	A	52619089	C	A	52619089	3	1	315	1	0	0	0	0	1	0	0	0	18136	739	26	4	1021	4	ZNF616	19	52619089	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	2352624	52619089	6509894	199	56172											
ZNF610	162963	broad.mit.edu	37	chr19	52869650	52869650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagagaagtcacacggCggaaaaaccttacaaatgta	17	7	8	9	2	3	1	3	0	0	1	3	3	3	2	1	2	2	1	1	2	6	2	rs149251185		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:52869650C>T	ENST00000601151.1	+	5	1342	c.890C>T	c.(889-891)gCg>gTg	p.A297V	ZNF610_ENST00000321287.8_Missense_Mutation_p.A340V|ZNF610_ENST00000403906.3_Missense_Mutation_p.A340V|ZNF610_ENST00000327920.8_Missense_Mutation_p.A340V	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGTCACACGGCGGAAAAACCT	0.393													13	64					0	0	0	0	T	52869650	C	T	52869650	3	4	315	1	0	0	0	0	1	0	0	0	18131	768	27	1	1033	1	ZNF610	19	52869650	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	250561	52869650	6259333	200	56173											
ZNF808	388558	broad.mit.edu	37	chr19	53058461	53058461	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtgagaaaccttacaaGtgtaacgactgtggcaatac	14	9	11	7	1	0	1	0	1	0	1	0	3	0	1	1	2	4	2	1	2	6	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:53058461G>A	ENST00000359798.4	+	5	2472	c.2292G>A	c.(2290-2292)aaG>aaA	p.K764K		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AACCTTACAAGTGTAACGACT	0.443													11	230					0	0	0	0	A	53058461	G	A	53058461	2	1	315	1	0	0	0	0	0	0	0	1	18266	1020	36	4		4	ZNF808	19	53058461	Silent	SNP	G	TCGA-CV-7424-01A-11D-2078-08	188811	53058461	6070522	201	56174											
VN1R4	317703	broad.mit.edu	37	chr19	53770328	53770328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaccatggagctgctgacCcagagcatgagccccagaca	13	4	10	14	0	0	4	0	2	0	2	0	5	0	5	4	1	5	3	4	1	1	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:53770328C>A	ENST00000311170.4	-	1	644	c.591G>T	c.(589-591)tgG>tgT	p.W197C		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	197					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AGCTGCTGACCCAGAGCATGA	0.537										HNSCC(26;0.072)			12	38					0.000308642	0.000319007	1	0	A	53770328	C	A	53770328	3	1	315	1	0	0	0	0	1	0	0	0	17276	624	22	4	317	4	VN1R4	19	53770328	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	711867	53770328	5358655	202	56175											
ZNF761	388561	broad.mit.edu	37	chr19	53945504	53945504	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaagtatgaagaggtggctCgtaagttggtgatcattgaa	12	11	15	3	1	1	4	1	3	0	1	2	5	1	5	0	4	0	4	0	4	5	4	rs12983857	by1000genomes	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:53945504C>T	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGAGGTGGCTCGTAAGTTGGT	0.483													5	59					0	0	0	0	T	53945504	C	T	53945504	1	4	315	0	1	0	0	0	0	0	0	0	18230	899	31	1		1	ZNF761	19	53945504	RNA	SNP	C	TCGA-CV-7424-01A-11D-2078-08	175176	53945504	5183479	203	56176											
ZNF761	388561	broad.mit.edu	37	chr19	53945701	53945701	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagattcttactgataatctCaaggaggcagagacccatgc	14	9	9	9	0	2	3	1	1	2	2	3	5	2	4	1	2	2	1	1	2	4	3	rs12984381	by1000genomes	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:53945701C>T	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CTGATAATCTCAAGGAGGCAG	0.428													5	73					0	0	0	0	T	53945701	C	T	53945701	1	4	315	0	1	0	0	0	0	0	0	0	18230	841	29	2		2	ZNF761	19	53945701	RNA	SNP	C	TCGA-CV-7424-01A-11D-2078-08	197	53945701	5183282	204	56177											
ZNF835	90485	broad.mit.edu	37	chr19	57175082	57175082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtcccgaactgtctgcatgCgtcctctggtgtcggatgag	5	11	13	12	4	2	1	0	1	2	0	5	3	4	2	2	2	3	1	2	2	1	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:57175082C>T	ENST00000537055.2	-	2	1716	c.1485G>A	c.(1483-1485)acG>acA	p.T495T		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGTCTGCATGCGTCCTCTGGT	0.637													64	126					0	0	0	0	T	57175082	C	T	57175082	2	4	315	1	0	0	0	0	0	0	0	1	18279	755	27	1		1	ZNF835	19	57175082	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08	3229381	57175082	1953901	205	56178											
FLRT3	23767	broad.mit.edu	37	chr20	14306666	14306666	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagtttcagtctcaataCaaacaggagtttcatcaaat	14	12	7	8	0	4	0	4	0	1	0	5	1	4	1	0	1	3	3	0	1	4	3			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr20:14306666C>G	ENST00000378053.3	-	2	1743	c.1487G>C	c.(1486-1488)tGt>tCt	p.C496S	FLRT3_ENST00000341420.4_Missense_Mutation_p.C496S|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	496	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AGTCTCAATACAAACAGGAGT	0.448													23	67					0	0	0	0	G	14306666	C	G	14306666	3	3	315	1	0	0	0	0	1	0	0	0	5985	478	17	4	466	4	FLRT3	20	14306666	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08		14306666	48718854	206	56179											
RALGAPB	57148	broad.mit.edu	37	chr20	37150265	37150265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actatgaagcaggaagagctGaggcttgtgggacactgtgt	11	9	15	6	0	0	3	0	2	0	1	0	5	0	5	0	3	2	3	0	3	3	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr20:37150265G>C	ENST00000262879.6	+	10	1827	c.1543G>C	c.(1543-1545)Gag>Cag	p.E515Q	RALGAPB_ENST00000397040.1_Missense_Mutation_p.E515Q|RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E293Q|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E515Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	515					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGGAAGAGCTGAGGCTTGTGG	0.413													26	101					0	0	0	0	C	37150265	G	C	37150265	3	2	315	1	0	0	0	0	1	0	0	0	13097	1291	45	2	1577	2	RALGAPB	20	37150265	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	22843599	37150265	25875255	207	56180											
ZNF334	55713	broad.mit.edu	37	chr20	45130768	45130768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acattcactacattcataggGtttttcccctgtgtgaattc	9	16	6	10	0	2	1	2	1	0	0	4	1	3	1	2	1	1	1	2	1	3	7	rs141823361	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr20:45130768G>A	ENST00000457685.2	-	6	2419	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	ZNF334_ENST00000593880.1_Missense_Mutation_p.P427S|ZNF334_ENST00000347606.4_Missense_Mutation_p.P404S			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATTCATAGGGTTTTTCCCCT	0.438													25	129					0	0	0	0	A	45130768	G	A	45130768	3	1	315	1	0	0	0	0	1	0	0	0	17946	1261	44	4	836	4	ZNF334	20	45130768	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	7980503	45130768	17894752	208	56181											
LAMA5	3911	broad.mit.edu	37	chr20	60885489	60885489	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acagacctaaagtgataactCccccgctgcctgggaagaac	13	6	9	13	1	0	3	0	1	0	2	1	4	1	4	4	1	3	1	4	1	5	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr20:60885489C>G	ENST00000252999.3	-	76	10652	c.10586G>C	c.(10585-10587)gGa>gCa	p.G3529A		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3529	Laminin G-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTGATAACTCCCCCGCTGCC	0.692													6	40					0	0	0	0	G	60885489	C	G	60885489	3	3	315	1	0	0	0	0	1	0	0	0	8662	855	30	2	521	2	LAMA5	20	60885489	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	15754721	60885489	2140031	209	56182											
IGSF5	150084	broad.mit.edu	37	chr21	41142937	41142937	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctcacactggacccggctCccggatatttcctgggagct	6	9	10	16	2	1	0	1	0	0	0	3	3	3	3	4	4	1	2	4	4	1	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr21:41142937C>T	ENST00000380588.4	+	4	616	c.513C>T	c.(511-513)ctC>ctT	p.L171L	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	171	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GGACCCGGCTCCCGGATATTT	0.502													31	37					0	0	0	0	T	41142937	C	T	41142937	2	4	315	1	0	0	0	0	0	0	0	1	7655	842	30	2		2	IGSF5	21	41142937	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08		41142937	6986958	210	56183											
C21orf33	8209	broad.mit.edu	37	chr21	45563136	45563136	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccaaggtgctcagaggcgtcGaggtgactgtgggccacgag	8	6	17	10	3	1	2	1	1	0	1	2	4	1	2	2	4	1	1	2	4	1	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr21:45563136G>C	ENST00000291577.6	+	6	664	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	C21orf33_ENST00000348499.5_Missense_Mutation_p.E160Q	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	191						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CAGAGGCGTCGAGGTGACTGT	0.622													8	17					0	0	0	0	C	45563136	G	C	45563136	3	2	315	1	0	0	0	0	1	0	0	0	2145	1059	37	3	593	3	C21orf33	21	45563136	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	4420199	45563136	2566759	211	56184											
KLHL22	84861	broad.mit.edu	37	chr22	20843396	20843396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcagccctcggagcagagCctgggagtgctgtgcgctgc	6	6	16	13	2	0	1	0	0	0	1	1	3	0	3	2	2	7	4	2	2	0	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr22:20843396C>T	ENST00000328879.4	-	2	259	c.103G>A	c.(103-105)Gct>Act	p.A35T	KLHL22_ENST00000470335.1_5'UTR|KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	35					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGAGCAGAGCCTGGGAGTGC	0.627													17	41					0	0	0	0	T	20843396	C	T	20843396	3	4	315	1	0	0	0	0	1	0	0	0	8429	739	26	4	1825	4	KLHL22	22	20843396	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08		20843396	30461170	212	56185											
SUSD2	56241	broad.mit.edu	37	chr22	24581256	24581256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgggctgactccggccGcttcttcgtgagcctcccat	3	9	12	17	4	1	2	0	2	1	0	4	2	3	2	5	3	1	2	5	3	0	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr22:24581256G>T	ENST00000358321.3	+	6	1238	c.977G>T	c.(976-978)cGc>cTc	p.R326L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	326	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GACTCCGGCCGCTTCTTCGTG	0.677													6	15					0.0215528	0.0217887	1	0	T	24581256	G	T	24581256	3	4	315	1	0	0	0	0	1	0	0	0	15498	1087	38	3	999	3	SUSD2	22	24581256	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	3737860	24581256	26723310	213	56186											
CELSR1	9620	broad.mit.edu	37	chr22	46859643	46859643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgcaggtgtagccgccctCgcggctgcggcagcggccgt	3	6	16	16	7	0	0	0	0	0	0	2	0	0	0	3	4	3	4	3	4	1	1			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr22:46859643C>T	ENST00000262738.3	-	2	4143	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	CELSR1_ENST00000395964.1_Missense_Mutation_p.E1382K	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1382	EGF-like 2; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TAGCCGCCCTCGCGGCTGCGG	0.687													3	15					0	0	0	0	T	46859643	C	T	46859643	3	4	315	1	0	0	0	0	1	0	0	0	3250	893	31	1	5036	1	CELSR1	22	46859643	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	22278387	46859643	4444923	214	56187											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29973400	29973400	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagtgaactgagaggaatTatgaactaccaggaggtgga	14	8	14	5	0	0	3	0	3	0	1	0	7	0	6	1	4	4	1	1	4	5	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:29973400T>G	ENST00000378993.1	+	11	2227	c.1554T>G	c.(1552-1554)atT>atG	p.I518M	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.I518M	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	518	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGAGAGGAATTATGAACTACC	0.448													27	17					0	0	0	0	G	29973400	T	G	29973400	3	3	315	1	0	0	0	0	1	0	0	0	7714	1742	61	5	1592	5	IL1RAPL1	23	29973400	Missense_Mutation	SNP	T	TCGA-CV-7424-01A-11D-2078-08		29973400	125297160	215	56188											
DMD	1756	broad.mit.edu	37	chrX	32305682	32305682	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattttgttaactttttccCattggaaatcaagctgggag	11	15	8	7	0	1	0	1	0	0	0	2	2	2	2	1	2	2	2	1	2	3	6			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:32305682C>T	ENST00000357033.4	-	43	6460	c.6254G>A	c.(6253-6255)tGg>tAg	p.W2085*	DMD_ENST00000378677.2_Nonsense_Mutation_p.W2081*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2085					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACTTTTTCCCATTGGAAATC	0.398													31	28					0	0	0	0	T	32305682	C	T	32305682	4	4	315	1	0	0	0	0	0	1	0	0	4617	595	21	4	5099	4	DMD	23	32305682	Nonsense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	2332282	32305682	122964878	216	56189											
UPRT	139596	broad.mit.edu	37	chrX	74494189	74494189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagctgcgacctggcgatCtgatcctggaccacgcaggg	8	6	14	13	3	1	1	0	1	1	0	2	4	2	2	3	3	3	3	3	3	0	0			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:74494189C>T	ENST00000373379.1	+	1	265	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L	UPRT_ENST00000373383.4_Silent_p.L34L|UPRT_ENST00000531704.1_3'UTR			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	34					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						ACCTGGCGATCTGATCCTGGA	0.612													4	12					0	0	0	0	T	74494189	C	T	74494189	2	4	315	1	0	0	0	0	0	0	0	1	17110	912	32	2		2	UPRT	23	74494189	Silent	SNP	C	TCGA-CV-7424-01A-11D-2078-08	42188507	74494189	80776371	217	56190											
MAGEC1	9947	broad.mit.edu	37	chrX	140994922	140994922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaggactccctgtctcctCactactttcctcagagccct	6	11	8	16	0	3	1	2	0	1	1	6	3	5	3	4	2	2	0	4	2	1	2			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:140994922C>T	ENST00000285879.4	+	4	2018	c.1732C>T	c.(1732-1734)Cac>Tac	p.H578Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	578							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTCTCCTCACTACTTTCC	0.582										HNSCC(15;0.026)			177	139					0	0	0	0	T	140994922	C	T	140994922	3	4	315	1	0	0	0	0	1	0	0	0	9249	826	29	2	1738	2	MAGEC1	23	140994922	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	66500733	140994922	14275638	218	56191											
CXorf40A	91966	broad.mit.edu	37	chrX	148627337	148627337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaaggcgatgcctggcGggagctgctggtggagagac	7	6	20	8	2	0	1	0	0	0	1	0	6	0	4	1	6	3	2	1	6	1	0	rs149793182	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:148627337G>A	ENST00000441248.1	+	3	1748	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	CXorf40A_ENST00000423421.1_Missense_Mutation_p.R54Q|CXorf40A_ENST00000393985.3_Missense_Mutation_p.R54Q|CXorf40A_ENST00000450602.2_Missense_Mutation_p.R54Q|CXorf40A_ENST00000359293.5_Missense_Mutation_p.R54Q|CXorf40A_ENST00000428236.1_5'UTR|CXorf40A_ENST00000423540.2_Missense_Mutation_p.R54Q|CXorf40A_ENST00000514208.1_Missense_Mutation_p.R54Q|CXorf40A_ENST00000422892.2_Missense_Mutation_p.R54Q|CXorf40A_ENST00000434353.2_Missense_Mutation_p.R54Q			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	54							protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GATGCCTGGCGGGAGCTGCTG	0.592													14	26					0	0	0	0	A	148627337	G	A	148627337	3	1	315	1	0	0	0	0	1	0	0	0	4140	1116	39	1	163	1	CXorf40A	23	148627337	Missense_Mutation	SNP	G	TCGA-CV-7424-01A-11D-2078-08	7632415	148627337	6643223	219	56192											
G6PD	2539	broad.mit.edu	37	chrX	153760877	153760877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcttggtgtacacggcctCgttgggctgcacgcggatca	6	10	13	12	4	2	0	1	0	1	0	3	1	2	1	1	4	2	4	1	4	1	3	rs137852325		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:153760877C>T	ENST00000393562.2	-	10	1665	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	G6PD_ENST00000393564.2_Missense_Mutation_p.E398K|G6PD_ENST00000369620.2_Missense_Mutation_p.E444K	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	398					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACACGGCCTCGTTGGGCTGC	0.607													15	63					0	0	0	0	T	153760877	C	T	153760877	3	4	315	1	0	0	0	0	1	0	0	0	6194	893	31	1	371	1	G6PD	23	153760877	Missense_Mutation	SNP	C	TCGA-CV-7424-01A-11D-2078-08	5133540	153760877	1509683	220	56193											
EPHA2	1969	broad.mit.edu	37	chr1	16464477	16464478	+	Frame_Shift_Ins	INS	-	-	G																															tcgctcactgtcacactggtINSgcgggtcagtccgtgaggag																								rs139909813		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:16464477_16464478insG	ENST00000358432.5	-	5	1336_1337	c.1182_1183insC	c.(1180-1185)cgccagfs	p.Q395fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	395	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GTCACACTGGTGCGGGTCAGTC	0.644													9	9	---	---	---	---					G	16464478	-	G	16464477	7	5	316	1	0	1	1	0	0	0	0	0	5205	1696	59	0	1799	0	EPHA2	1	16464477	Frame_Shift_Ins	INS	-	TCGA-CV-7425-01A-11D-2078-08		16464477	232786144	1	56194											
ARID1A	8289	broad.mit.edu	37	chr1	27102150	27102150	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcattagataccatcaaCatcctgctgtatgatgacaa	13	11	8	9	0	1	3	1	2	0	1	2	3	2	3	2	1	3	3	2	1	5	3	rs149468118	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:27102150C>T	ENST00000324856.7	+	19	5447	c.5076C>T	c.(5074-5076)aaC>aaT	p.N1692N	ARID1A_ENST00000540690.1_Silent_p.N20N|ARID1A_ENST00000374152.2_Silent_p.N1309N|ARID1A_ENST00000457599.2_Silent_p.N1475N	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1692					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATACCATCAACATCCTGCTGT	0.498			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								7	24					0	0	0	0	T	27102150	C	T	27102150	2	4	316	1	0	0	0	0	0	0	0	1	915	477	17	4		4	ARID1A	1	27102150	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08	10637673	27102150	222148471	2	56195											
BAI2	576	broad.mit.edu	37	chr1	32193839	32193839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggaacttctggttgagctCgtggtagagttctgaatgcc	7	13	14	7	1	2	3	0	2	2	1	3	4	2	4	1	3	3	4	1	3	3	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:32193839C>T	ENST00000373658.3	-	31	4800	c.4459G>A	c.(4459-4461)Gag>Aag	p.E1487K	BAI2_ENST00000373655.2_Missense_Mutation_p.E1486K|BAI2_ENST00000398547.1_Missense_Mutation_p.E1420K|BAI2_ENST00000257070.4_Missense_Mutation_p.E1453K|BAI2_ENST00000398538.1_Missense_Mutation_p.E1475K|BAI2_ENST00000398556.3_Missense_Mutation_p.E1402K|BAI2_ENST00000440175.2_Missense_Mutation_p.E1096K|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000527361.1_Missense_Mutation_p.E1453K|BAI2_ENST00000398542.1_Missense_Mutation_p.E1387K	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1487					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGTTGAGCTCGTGGTAGAGT	0.637													6	26					0	0	0	0	T	32193839	C	T	32193839	3	4	316	1	0	0	0	0	1	0	0	0	1303	893	31	1	310	1	BAI2	1	32193839	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	5091689	32193839	217056782	3	56196											
IPP	3652	broad.mit.edu	37	chr1	46206708	46206708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctaagaagacctggtattCatcctcaatgctaagctctt	12	12	7	10	0	3	2	2	0	1	2	4	2	4	2	2	1	3	4	2	1	5	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:46206708C>T	ENST00000396478.3	-	3	691	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	197						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					ACCTGGTATTCATCCTCAATG	0.413													23	61					0	0	0	0	T	46206708	C	T	46206708	3	4	316	1	0	0	0	0	1	0	0	0	7853	835	29	2	1295	2	IPP	1	46206708	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	14012869	46206708	203043913	4	56197											
NEGR1	257194	broad.mit.edu	37	chr1	72400876	72400876	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatctggaggctgtagtcccTtttattcaatgttgaaattg	9	17	9	6	0	2	1	1	1	1	0	3	2	3	2	1	2	0	3	1	2	5	7			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:72400876T>G	ENST00000357731.4	-	2	534	c.295A>C	c.(295-297)Agg>Cgg	p.R99R	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Silent_p.R97R|NEGR1_ENST00000306821.3_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	99	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTGTAGTCCCTTTTATTCAAT	0.453													16	60					0	0	0	0	G	72400876	T	G	72400876	2	3	316	1	0	0	0	0	0	0	0	1	10387	1608	56	5		5	NEGR1	1	72400876	Silent	SNP	T	TCGA-CV-7425-01A-11D-2078-08	26194168	72400876	176849745	5	56198											
RPF1	80135	broad.mit.edu	37	chr1	84961625	84961625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaataattttacaacaCggctgggtcattcaattgga	12	14	8	7	1	3	1	2	1	1	0	3	2	3	2	0	3	2	1	0	3	5	6	rs139410871		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:84961625C>T	ENST00000370654.5	+	7	775	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W		NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	254	Brix.				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TTTTACAACACGGCTGGGTCA	0.383													12	37					0	0	0	0	T	84961625	C	T	84961625	3	4	316	1	0	0	0	0	1	0	0	0	13631	527	19	1	786	1	RPF1	1	84961625	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	12560749	84961625	164288996	6	56199											
CLK2	1196	broad.mit.edu	37	chr1	155234031	155234031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtctttcggatcatccGggaagggataggacccaaga	10	9	12	10	2	2	1	1	0	1	1	4	5	3	5	3	4	0	0	3	4	3	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:155234031G>A	ENST00000368361.4	-	11	1522	c.1207C>T	c.(1207-1209)Cgg>Tgg	p.R403W	CLK2_ENST00000361168.5_Missense_Mutation_p.R402W|CLK2_ENST00000355560.4_Missense_Mutation_p.R401W|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.R403W			P49760	CLK2_HUMAN	CDC-like kinase 2	403	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R403R(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGGATCATCCGGGAAGGGATA	0.443								Other conserved DNA damage response genes					16	48					0	0	0	0	A	155234031	G	A	155234031	3	1	316	1	0	0	0	0	1	0	0	0	3567	1115	39	1	304	1	CLK2	1	155234031	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	70272406	155234031	94016590	7	56200											
CD1E	913	broad.mit.edu	37	chr1	158325354	158325354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggagtcagaactgaaacGgaaaggtgagcccaactctc	14	5	13	9	1	2	3	1	2	1	1	3	5	2	5	1	4	4	0	1	4	4	0			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:158325354G>A	ENST00000444681.2	+	2	616	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	CD1E_ENST00000434258.1_Missense_Mutation_p.R205Q|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.R207Q|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.R207Q|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.R207Q|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.R207Q	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	207					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GAACTGAAACGGAAAGGTGAG	0.453													5	15					0	0	0	0	A	158325354	G	A	158325354	3	1	316	1	0	0	0	0	1	0	0	0	3007	1116	39	1	630	1	CD1E	1	158325354	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	3091323	158325354	90925267	8	56201											
SPTA1	6708	broad.mit.edu	37	chr1	158631136	158631136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaatgcgtggttcatggctgGcaatgttctccaggatgact	8	12	13	8	1	2	1	1	1	1	0	3	3	2	2	1	4	1	4	1	4	2	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:158631136G>A	ENST00000368148.3	-	18	2708	c.2528C>T	c.(2527-2529)gCc>gTc	p.A843V	SPTA1_ENST00000368147.3_Missense_Mutation_p.A843V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	843					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCATGGCTGGCAATGTTCTC	0.423													4	81					0	0	0	0	A	158631136	G	A	158631136	3	1	316	1	0	0	0	0	1	0	0	0	15206	1203	42	4	4871	4	SPTA1	1	158631136	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	305782	158631136	90619485	9	56202											
SPTA1	6708	broad.mit.edu	37	chr1	158655086	158655086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caacacttcctgacgcctctCctggatctcttctgctgttt	5	15	6	15	1	3	1	0	1	3	0	6	2	4	2	3	1	2	2	3	1	1	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:158655086C>T	ENST00000368148.3	-	2	256	c.76G>A	c.(76-78)Gag>Aag	p.E26K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E26K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	26					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E26*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGACGCCTCTCCTGGATCTCT	0.443													22	74					0	0	0	0	T	158655086	C	T	158655086	3	4	316	1	0	0	0	0	1	0	0	0	15206	864	30	2	7387	2	SPTA1	1	158655086	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	23950	158655086	90595535	10	56203											
TBX19	9095	broad.mit.edu	37	chr1	168274332	168274332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctcctctgcctctgcctGctccccacacccaccatggc	4	8	6	23	1	2	0	0	0	2	0	4	0	4	0	8	1	3	2	8	1	0	0			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:168274332G>T	ENST00000367821.3	+	6	865	c.814G>T	c.(814-816)Gct>Tct	p.A272S		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	272					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GCCTCTGCCTGCTCCCCACAC	0.552													22	54					7.41877e-09	8.56012e-09	1	0	T	168274332	G	T	168274332	3	4	316	1	0	0	0	0	1	0	0	0	15748	1319	46	4	836	4	TBX19	1	168274332	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	9619246	168274332	80976289	11	56204											
NPHS2	7827	broad.mit.edu	37	chr1	179544754	179544754	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccgctcgctctccaacagCgccaccacctcggtgccctc	5	6	9	21	4	1	0	0	0	1	0	5	0	1	0	6	2	3	2	6	2	1	0			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:179544754C>T	ENST00000367615.4	-	1	314	c.246G>A	c.(244-246)gcG>gcA	p.A82A	NPHS2_ENST00000367616.4_Silent_p.A82A	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	82					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TCTCCAACAGCGCCACCACCT	0.672													7	15					0	0	0	0	T	179544754	C	T	179544754	2	4	316	1	0	0	0	0	0	0	0	1	10653	755	27	1		1	NPHS2	1	179544754	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08	11270422	179544754	69705867	12	56205											
LAMC2	3918	broad.mit.edu	37	chr1	183192457	183192457	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaccaagacttacacattCaggtaaaaagagagaccata	18	7	6	10	0	2	3	2	0	0	3	2	4	2	3	2	1	1	1	2	1	6	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:183192457C>T	ENST00000264144.4	+	7	1016	c.951C>T	c.(949-951)ttC>ttT	p.F317F	LAMC2_ENST00000493293.1_Silent_p.F317F	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	317	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTTACACATTCAGGTAAAAAG	0.413													16	36					0	0	0	0	T	183192457	C	T	183192457	2	4	316	1	0	0	0	0	0	0	0	1	8668	825	29	2		2	LAMC2	1	183192457	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08	3647703	183192457	66058164	13	56206											
HMCN1	83872	broad.mit.edu	37	chr1	186158913	186158913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgagaagcagagacctaccGcatgagggtccgagcctcat	12	5	12	12	3	1	3	1	1	0	2	2	6	2	3	4	1	3	2	4	1	2	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:186158913G>T	ENST00000271588.4	+	107	17040	c.16811G>T	c.(16810-16812)cGc>cTc	p.R5604L	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5487L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5604					response to stimulus|visual perception	basement membrane	calcium ion binding	p.R5604H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGACCTACCGCATGAGGGTC	0.468													11	35					1.58986e-06	1.77248e-06	1	0	T	186158913	G	T	186158913	3	4	316	1	0	0	0	0	1	0	0	0	7270	1087	38	3	17237	3	HMCN1	1	186158913	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	2966456	186158913	63091708	14	56207											
CACNA1S	779	broad.mit.edu	37	chr1	201022706	201022706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctggagatgcgggcactctCatctgggtcctgcggggcag	5	8	17	11	2	2	1	1	0	2	1	4	2	3	1	1	5	2	3	1	5	0	0			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:201022706C>T	ENST00000362061.3	-	30	3902	c.3676G>A	c.(3676-3678)Gag>Aag	p.E1226K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1207K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1226					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGGGCACTCTCATCTGGGTCC	0.642													3	35					0	0	0	0	T	201022706	C	T	201022706	3	4	316	1	0	0	0	0	1	0	0	0	2572	835	29	2	2005	2	CACNA1S	1	201022706	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	14863793	201022706	48227915	15	56208											
SNTG2	54221	broad.mit.edu	37	chr2	1079296	1079296	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaggtgctgacaattcaGaaacaagatgttgtctgtgt	14	11	11	5	0	2	4	1	1	1	3	2	4	2	4	0	1	2	2	0	1	4	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:1079296G>C	ENST00000308624.5	+	2	294	c.165G>C	c.(163-165)caG>caC	p.Q55H	SNTG2_ENST00000407292.1_Missense_Mutation_p.Q55H	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	55					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGACAATTCAGAAACAAGATG	0.498													22	36					0	0	0	0	C	1079296	G	C	1079296	3	2	316	1	0	0	0	0	1	0	0	0	14963	933	33	2	171	2	SNTG2	2	1079296	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08		1079296	242120077	16	56209											
MYCN	4613	broad.mit.edu	37	chr2	16086016	16086016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagcgccgcaacgaccttCggtccagctttctcacgctc	6	8	9	18	5	1	0	1	0	1	0	5	1	2	0	4	1	3	3	4	1	1	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:16086016C>T	ENST00000281043.3	+	3	1489	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	398	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CAACGACCTTCGGTCCAGCTT	0.567			A		neuroblastoma								13	69					0	0	0	0	T	16086016	C	T	16086016	3	4	316	1	0	0	0	0	1	0	0	0	10091	875	31	1	1198	1	MYCN	2	16086016	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	15006720	16086016	227113357	17	56210											
CCDC88A	55704	broad.mit.edu	37	chr2	55570925	55570925	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttttctatccatatctcGttccttttttattggcaagg	6	21	5	9	1	2	0	0	0	2	0	5	0	4	0	2	2	0	2	2	2	4	10			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:55570925G>A	ENST00000436346.1	-	12	2033	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.R398*|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.R398*|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.R398*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	398					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCCATATCTCGTTCCTTTTTT	0.308													8	14					0	0	0	0	A	55570925	G	A	55570925	4	1	316	1	0	0	0	0	0	1	0	0	2890	1153	40	1	4507	1	CCDC88A	2	55570925	Nonsense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	39484909	55570925	187628448	18	56211											
DOK1	1796	broad.mit.edu	37	chr2	74783065	74783065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggactgaggccgccgagCgctgtggcctgcatggctcc	6	6	16	13	3	0	2	0	1	0	1	1	4	1	3	4	4	2	3	4	4	0	0			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:74783065C>T	ENST00000233668.5	+	4	1168	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.R28C|DOK1_ENST00000340004.6_Intron	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	167	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCGCCGAGCGCTGTGGCCT	0.637													12	31					0	0	0	0	T	74783065	C	T	74783065	3	4	316	1	0	0	0	0	1	0	0	0	4732	768	27	1	513	1	DOK1	2	74783065	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	19212140	74783065	168416308	19	56212											
SNRNP200	23020	broad.mit.edu	37	chr2	96942823	96942823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacctctggctcacctgcGgatgctgtccttatctacca	7	11	7	16	1	3	0	1	0	2	0	4	1	4	1	5	2	3	2	5	2	2	2	rs150442718		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:96942823G>A	ENST00000323853.5	-	42	6165	c.6088C>T	c.(6088-6090)Cgc>Tgc	p.R2030C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	2030	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCTCACCTGCGGATGCTGTCC	0.552													9	71					0	0	0	0	A	96942823	G	A	96942823	3	1	316	1	0	0	0	0	1	0	0	0	14940	1116	39	1	338	1	SNRNP200	2	96942823	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	22159758	96942823	146256550	20	56213											
DPP10	57628	broad.mit.edu	37	chr2	116535403	116535403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctcccagaggaaggcagCtgtacaggtaagcagtgtgc	10	8	13	10	0	1	1	0	0	1	1	2	2	1	2	1	3	4	5	1	3	3	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:116535403C>A	ENST00000410059.1	+	15	1834	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	DPP10_ENST00000310323.8_Missense_Mutation_p.L445M|DPP10_ENST00000393147.2_Missense_Mutation_p.L456M|DPP10_ENST00000409163.1_Missense_Mutation_p.L402M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	452					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGGAAGGCAGCTGTACAGGTA	0.403													17	41					1.00905e-13	1.19779e-13	1	0	A	116535403	C	A	116535403	3	1	316	1	0	0	0	0	1	0	0	0	4763	796	28	4	1583	4	DPP10	2	116535403	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	19592580	116535403	126663970	21	56214											
LRP1B	53353	broad.mit.edu	37	chr2	140992441	140992441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcactgggtcctccccCtatgtacctggcctgtatat	8	11	9	13	0	0	0	0	0	0	0	2	1	2	0	5	2	2	3	5	2	5	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:140992441C>T	ENST00000389484.3	-	90	14544	c.13573G>A	c.(13573-13575)Ggg>Agg	p.G4525R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4525					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ggtcctccccctatgtacctg	0.383										TSP Lung(27;0.18)			6	29					0	0	0	0	T	140992441	C	T	140992441	3	4	316	1	0	0	0	0	1	0	0	0	9019	681	24	4	234	4	LRP1B	2	140992441	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	24457038	140992441	102206932	22	56215											
LRP1B	53353	broad.mit.edu	37	chr2	141359128	141359128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtccacagtgtgtctggTgatggatgaggtggtagagc	7	11	17	6	0	1	3	0	2	1	1	2	4	2	4	1	5	1	1	1	5	1	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:141359128T>C	ENST00000389484.3	-	42	7851	c.6880A>G	c.(6880-6882)Acc>Gcc	p.T2294A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2294					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTGTGTCTGGTGATGGATGAG	0.512										TSP Lung(27;0.18)			9	29					0	0	0	0	C	141359128	T	C	141359128	3	2	316	1	0	0	0	0	1	0	0	0	9019	1696	59	5	7119	5	LRP1B	2	141359128	Missense_Mutation	SNP	T	TCGA-CV-7425-01A-11D-2078-08	366687	141359128	101840245	23	56216											
FIGN	55137	broad.mit.edu	37	chr2	164467308	164467308	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattctgtacataggactcTgtgtagatctctgttggcca	8	14	10	9	0	3	1	0	0	3	1	4	2	3	2	1	2	1	4	1	2	3	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:164467308T>A	ENST00000333129.3	-	3	1348	c.1034A>T	c.(1033-1035)cAg>cTg	p.Q345L	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	345						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CATAGGACTCTGTGTAGATCT	0.438													21	54					0	0	0	0	A	164467308	T	A	164467308	3	1	316	1	0	0	0	0	1	0	0	0	5936	1580	55	5	1249	5	FIGN	2	164467308	Missense_Mutation	SNP	T	TCGA-CV-7425-01A-11D-2078-08	23108180	164467308	78732065	24	56217											
TTN	7273	broad.mit.edu	37	chr2	179467097	179467097	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttcactctgaatctgtaCttcctgagctctttcagatt	7	17	6	11	0	5	3	2	2	3	1	6	3	6	3	1	0	2	3	1	0	2	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:179467097C>T	ENST00000589042.1	-	283	55256	c.55032G>A	c.(55030-55032)aaG>aaA	p.K18344K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.K9471K|TTN_ENST00000359218.5_Silent_p.K9404K|TTN_ENST00000342992.6_Silent_p.K15776K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.K16703K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.K9279K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16703	Fibronectin type-III 33.						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)			TGAATCTGTACTTCCTGAGCT	0.418													4	41					0	0	0	0	T	179467097	C	T	179467097	2	4	316	1	0	0	0	0	0	0	0	1	16831	564	20	4		4	TTN	2	179467097	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08	14999789	179467097	63732276	25	56218											
HIBCH	26275	broad.mit.edu	37	chr2	191116990	191116990	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtaaccaagttttccttgGagtcgtggcaagaaataacc	14	10	9	8	1	0	1	0	0	0	1	2	2	1	2	3	2	2	3	3	2	6	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:191116990G>A	ENST00000392332.3	-	8	700	c.561C>T	c.(559-561)ctC>ctT	p.L187L	HIBCH_ENST00000359678.5_Silent_p.L187L			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	187				LPRLQGKLGYFLALT -> FATTPRKTWLLPCIN (in Ref. 1; AAC52114).	branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			GTTTTCCTTGGAGTCGTGGCA	0.363													21	33					0	0	0	0	A	191116990	G	A	191116990	2	1	316	1	0	0	0	0	0	0	0	1	7150	1161	41	2		2	HIBCH	2	191116990	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08	11649893	191116990	52082383	26	56219											
DNAH7	56171	broad.mit.edu	37	chr2	196726485	196726485	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgaaggtggagattaattcGaggtaagaggtaggagtcac	13	10	15	3	1	1	3	1	1	0	2	2	6	1	4	0	5	0	2	0	5	4	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:196726485G>C	ENST00000312428.6	-	42	7792	c.7692C>G	c.(7690-7692)ctC>ctG	p.L2564L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2564					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGATTAATTCGAGGTAAGAGG	0.308													17	24					0	0	0	0	C	196726485	G	C	196726485	2	2	316	1	0	0	0	0	0	0	0	1	4642	1045	37	3		3	DNAH7	2	196726485	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08	5609495	196726485	46472888	27	56220											
CASP8	841	broad.mit.edu	37	chr2	202150030	202150030	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgccagagcctgagagagCgatgtcctcggtaagttttg	8	12	13	8	2	0	3	0	1	0	2	2	5	1	3	3	1	3	2	3	1	1	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:202150030C>T	ENST00000358485.4	+	8	1667	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R432*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	432					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R449*(2)|p.R491*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTGAGAGAGCGATGTCCTCG	0.507										HNSCC(4;0.00038)			21	45					0	0	0	0	T	202150030	C	T	202150030	4	4	316	1	0	0	0	0	0	1	0	0	2702	760	27	1	1601	1	CASP8	2	202150030	Nonsense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	5423545	202150030	41049343	28	56221											
TMEM198	130612	broad.mit.edu	37	chr2	220413898	220413898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagccggcagcgccgacGcgtgcaactgatgcggattc	8	6	13	14	6	1	1	1	1	0	0	2	3	1	2	2	2	5	2	2	2	1	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:220413898G>A	ENST00000344458.2	+	5	1352	c.767G>A	c.(766-768)cGc>cAc	p.R256H	TMEM198_ENST00000373883.3_Missense_Mutation_p.R256H			Q66K66	TM198_HUMAN	transmembrane protein 198	256	Arg-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CAGCGCCGACGCGTGCAACTG	0.627													16	99					0	0	0	0	A	220413898	G	A	220413898	3	1	316	1	0	0	0	0	1	0	0	0	16213	1087	38	1	777	1	TMEM198	2	220413898	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	18263868	220413898	22785475	29	56222											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239237417	239237417	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacctcaagatctcaggaaTtggataataagaatgtgcga	15	10	10	6	1	2	3	2	1	1	2	3	6	2	5	1	2	1	0	1	2	5	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:239237417T>C	ENST00000373327.4	+	4	667	c.445T>C	c.(445-447)Ttg>Ctg	p.L149L	TRAF3IP1_ENST00000391993.3_Silent_p.L149L|TRAF3IP1_ENST00000391994.2_Silent_p.L149L	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	149	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		ATCTCAGGAATTGGATAATAA	0.458													3	24					0	0	0	0	C	239237417	T	C	239237417	2	2	316	1	0	0	0	0	0	0	0	1	16535	1490	52	5		5	TRAF3IP1	2	239237417	Silent	SNP	T	TCGA-CV-7425-01A-11D-2078-08	18823519	239237417	3961956	30	56223											
MTERFD2	130916	broad.mit.edu	37	chr2	242035518	242035518	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatcattgtcctcctcAtcatcgtcatcctcatcctc	6	15	2	18	1	6	0	6	0	0	0	13	0	11	0	5	0	0	0	5	0	0	1	rs71862226		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:242035518A>C	ENST00000391980.2	-	4	1099	c.1041T>G	c.(1039-1041)gaT>gaG	p.D347E	MTERFD2_ENST00000406593.1_Missense_Mutation_p.D159E|MTERFD2_ENST00000495694.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	347			D -> E (in dbSNP:rs10203977).							endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		tgtcctcctcatcatcgtcat	0.517													22	28					0	0	0	0	C	242035518	A	C	242035518	3	2	316	1	0	0	0	0	1	0	0	0	9990	214	8	5	108	5	MTERFD2	2	242035518	Missense_Mutation	SNP	A	TCGA-CV-7425-01A-11D-2078-08	2798101	242035518	1163855	31	56224											
TADA3	10474	broad.mit.edu	37	chr3	9822068	9822068	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagcagcttcaggatgctCtcacgctccttcagagtctt	7	12	8	14	1	4	1	3	0	2	1	7	2	6	2	2	1	3	4	2	1	0	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:9822068C>G	ENST00000301964.2	-	9	1830	c.1272G>C	c.(1270-1272)gaG>gaC	p.E424D	TADA3_ENST00000440161.1_Missense_Mutation_p.E424D	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	424					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TCAGGATGCTCTCACGCTCCT	0.587													9	30					0	0	0	0	G	9822068	C	G	9822068	3	3	316	1	0	0	0	0	1	0	0	0	15603	912	32	2	30	2	TADA3	3	9822068	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08		9822068	188200362	32	56225											
MLH1	4292	broad.mit.edu	37	chr3	37056031	37056031	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcatcttcttactcttcatCaaccgtaagttaaaaagaac	14	13	4	10	1	5	1	2	0	3	1	5	1	5	1	1	0	4	3	1	0	7	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:37056031C>G	ENST00000231790.2	+	9	1002	c.786C>G	c.(784-786)atC>atG	p.I262M	MLH1_ENST00000458205.2_Missense_Mutation_p.I21M|MLH1_ENST00000539477.1_Missense_Mutation_p.I21M|MLH1_ENST00000435176.1_Missense_Mutation_p.I164M|MLH1_ENST00000536378.1_Missense_Mutation_p.I21M|MLH1_ENST00000455445.2_Missense_Mutation_p.I21M	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	262			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TACTCTTCATCAACCGTAAGT	0.383		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				10	25					0	0	0	0	G	37056031	C	G	37056031	3	3	316	1	0	0	0	0	1	0	0	0	9686	816	29	2	820	2	MLH1	3	37056031	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	27233963	37056031	160966399	33	56226											
CYP8B1	1582	broad.mit.edu	37	chr3	42915828	42915828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaggatgcaggcggtagCggaagcgcacatcgtggctg	8	7	17	9	4	0	0	0	0	0	0	1	2	0	2	0	5	3	5	0	5	3	2	rs145159025	by1000genomes	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:42915828C>T	ENST00000316161.4	-	1	1805	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	494					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)		CAGGCGGTAGCGGAAGCGCAC	0.582													7	31					0	0	0	0	T	42915828	C	T	42915828	3	4	316	1	0	0	0	0	1	0	0	0	4230	768	27	1	28	1	CYP8B1	3	42915828	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	5859797	42915828	155106602	34	56227											
NBEAL2	23218	broad.mit.edu	37	chr3	47041650	47041650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctctccccattctgcaCgccctttgacctgggcctgg	3	12	9	17	1	2	1	0	1	2	0	4	1	3	1	5	2	2	2	5	2	0	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:47041650C>T	ENST00000450053.3	+	27	4240	c.4061C>T	c.(4060-4062)aCg>aTg	p.T1354M	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1354							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCATTCTGCACGCCCTTTGAC	0.617													4	104					0	0	0	0	T	47041650	C	T	47041650	3	4	316	1	0	0	0	0	1	0	0	0	10259	536	19	1	4167	1	NBEAL2	3	47041650	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	4125822	47041650	150980780	35	56228											
CCDC51	79714	broad.mit.edu	37	chr3	48476325	48476325	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggaggtcgctcgttgctGaatgctgtgccccagggctc	4	11	15	11	2	0	1	0	1	0	0	3	2	0	2	2	3	3	5	2	3	1	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:48476325G>A	ENST00000395694.2	-	2	299	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	CCDC51_ENST00000447018.1_5'UTR|CCDC51_ENST00000442740.1_5'UTR|CCDC51_ENST00000395696.1_Nonsense_Mutation_p.Q72*|CCDC51_ENST00000412398.2_5'UTR	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	72						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCTCGTTGCTGAATGCTGTGC	0.612													16	59					0	0	0	0	A	48476325	G	A	48476325	4	1	316	1	0	0	0	0	0	1	0	0	2848	1299	45	2	1033	2	CCDC51	3	48476325	Nonsense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	1434675	48476325	149546105	36	56229											
COL7A1	1294	broad.mit.edu	37	chr3	48617463	48617463	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagacccagcgcagcccttaCcagccgtcccgggggtcctg	6	5	12	18	3	0	1	0	0	0	1	2	1	2	1	6	2	4	1	6	2	1	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:48617463C>A	ENST00000328333.8	-	56	5232		c.e56+1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGCCCTTACCAGCCGTCCC	0.592													10	29					0.00829132	0.00855042	1	0	A	48617463	C	A	48617463	5	1	316	1	0	0	0	0	0	0	1	0	3734	521	18	4	3961	4	COL7A1	3	48617463	Splice_Site	SNP	C	TCGA-CV-7425-01A-11D-2078-08	141138	48617463	149404967	37	56230											
C3orf30	152405	broad.mit.edu	37	chr3	118865966	118865966	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaagactcaccaccaagtGtacggccaagccactgaact	14	6	8	13	1	1	2	1	1	0	1	1	2	1	2	4	1	3	2	4	1	6	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:118865966G>C	ENST00000295622.1	+	1	970	c.930G>C	c.(928-930)gtG>gtC	p.V310V		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	310										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACCACCAAGTGTACGGCCAAG	0.493													7	33					0	0	0	0	C	118865966	G	C	118865966	2	2	316	1	0	0	0	0	0	0	0	1	2240	1364	48	4		4	C3orf30	3	118865966	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08	70248503	118865966	79156464	38	56231											
UROC1	131669	broad.mit.edu	37	chr3	126220703	126220703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctcccccaggggtgcaaGgttgacaaagcaggaaagga	12	4	13	12	0	0	1	0	1	0	0	1	3	1	3	4	5	2	3	4	5	3	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:126220703G>T	ENST00000383579.3	-	10	1024	c.991C>A	c.(991-993)Ctt>Att	p.L331I	UROC1_ENST00000290868.2_Intron	NM_001165974.1	NP_001159446.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	0					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AGGGGTGCAAGGTTGACAAAG	0.622													9	39					0.0692343	0.0709544	1	0	T	126220703	G	T	126220703	3	4	316	1	0	0	0	0	1	0	0	0	17124	1000	35	4	1267	4	UROC1	3	126220703	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	7354737	126220703	71801727	39	56232											
GOLIM4	27333	broad.mit.edu	37	chr3	167742370	167742370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	attgtcctcctgctggtctgGatttcctgccatctgttgga	4	16	10	11	0	2	0	0	0	2	0	5	2	5	2	4	3	2	2	4	3	0	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:167742370G>C	ENST00000470487.1	-	14	2493	c.1804C>G	c.(1804-1806)Cca>Gca	p.P602A	GOLIM4_ENST00000309027.4_Missense_Mutation_p.P574A	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	602	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGCTGGTCTGGATTTCCTGCC	0.463													6	28					0	0	0	0	C	167742370	G	C	167742370	3	2	316	1	0	0	0	0	1	0	0	0	6614	1174	41	2	298	2	GOLIM4	3	167742370	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	41521667	167742370	30280060	40	56233											
GBA3	57733	broad.mit.edu	37	chr4	22820400	22820400	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcatggtctcttctggatAactttgagtggaaccaggga	9	12	13	7	0	2	1	0	1	2	0	3	4	2	4	1	4	3	1	1	4	2	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr4:22820400A>T	ENST00000508264.1	+	0	222				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA			Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.N422Y(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCTTCTGGATAACTTTGAGTG	0.423													3	19					0	0	0	0	T	22820400	A	T	22820400	1	4	316	0	1	0	0	0	0	0	0	0	6317	362	13	5		5	GBA3	4	22820400	RNA	SNP	A	TCGA-CV-7425-01A-11D-2078-08		22820400	168333876	41	56234											
CHRNA9	55584	broad.mit.edu	37	chr4	40339349	40339349	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcaggatccccagtgacctCgtgtggaggccagacatcgt	9	8	12	12	2	1	2	1	1	0	1	4	4	2	4	4	3	0	0	4	3	0	0	rs148584579	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr4:40339349C>T	ENST00000310169.2	+	3	472	c.333C>T	c.(331-333)ctC>ctT	p.L111L	CHRNA9_ENST00000502377.1_3'UTR	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	111					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CCAGTGACCTCGTGTGGAGGC	0.468													8	23					0	0	0	0	T	40339349	C	T	40339349	2	4	316	1	0	0	0	0	0	0	0	1	3418	871	31	1		1	CHRNA9	4	40339349	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08	17518949	40339349	150814927	42	56235											
FAT4	79633	broad.mit.edu	37	chr4	126241794	126241794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtcagtggttattcacGtgagggactttaatgacaat	12	13	10	6	1	2	2	2	2	0	0	2	3	2	3	0	2	0	1	0	2	4	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr4:126241794G>A	ENST00000394329.3	+	1	4241	c.4228G>A	c.(4228-4230)Gtg>Atg	p.V1410M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1410	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V1410M(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTTATTCACGTGAGGGACTT	0.383													25	100					0	0	0	0	A	126241794	G	A	126241794	3	1	316	1	0	0	0	0	1	0	0	0	5737	1145	40	1	4230	1	FAT4	4	126241794	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	85902445	126241794	64912482	43	56236											
FBXW7	55294	broad.mit.edu	37	chr4	153247377	153247379	+	In_Frame_Del	DEL	AAC	AAC	-																															gtggcatctcgagaaccgctAacaactctgcagagggagaa																										TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr4:153247377_153247379delAAC	ENST00000281708.4	-	10	2652_2654	c.1423_1425delGTT	c.(1423-1425)del	p.V475del	FBXW7_ENST00000263981.5_In_Frame_Del_p.V395del|FBXW7_ENST00000603841.1_In_Frame_Del_p.V475del|FBXW7_ENST00000296555.5_In_Frame_Del_p.V357del|FBXW7_ENST00000603548.1_In_Frame_Del_p.V475del|FBXW7_ENST00000393956.3_In_Frame_Del_p.V299del	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	475					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAGAACCGCTAACAACTCTGCAG	0.389			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								16	60	---	---	---	---					-	153247379	AAC	-	153247377	7	5	316	1	0	1	0	1	0	0	0	0	5814	349	13	0	710	0	FBXW7	4	153247377	In_Frame_Del	DEL	AAC	TCGA-CV-7425-01A-11D-2078-08	27005583	153247377	37906899	44	56237											
PLCXD3	345557	broad.mit.edu	37	chr5	41382584	41382584	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacagtttctggctgctcAggacctactggagaggcttc	7	11	13	10	0	2	1	1	0	1	1	3	4	2	3	1	5	2	4	1	5	1	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:41382584A>G	ENST00000377801.3	-	2	230	c.156T>C	c.(154-156)ccT>ccC	p.P52P	PLCXD3_ENST00000328457.3_Silent_p.P52P			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	52	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTGGCTGCTCAGGACCTACTG	0.448													8	52					0	0	0	0	G	41382584	A	G	41382584	2	3	316	1	0	0	0	0	0	0	0	1	12115	175	7	5		5	PLCXD3	5	41382584	Silent	SNP	A	TCGA-CV-7425-01A-11D-2078-08		41382584	139532676	45	56238											
THBS4	7060	broad.mit.edu	37	chr5	79336023	79336023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagctgcagactaaaagttCagccaccatcttcggtcttt	11	11	7	12	1	3	1	1	0	2	1	4	1	3	1	2	1	3	3	2	1	3	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:79336023C>T	ENST00000350881.2	+	2	402	c.212C>T	c.(211-213)tCa>tTa	p.S71L	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	71	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACTAAAAGTTCAGCCACCATC	0.443													11	31					0	0	0	0	T	79336023	C	T	79336023	3	4	316	1	0	0	0	0	1	0	0	0	15950	838	29	2	218	2	THBS4	5	79336023	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	37953439	79336023	101579237	46	56239											
PCDHA3	56145	broad.mit.edu	37	chr5	140181874	140181874	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtattagaagactctccActtagcacagtcatcgctct	10	12	6	13	1	3	2	1	0	2	2	5	2	3	2	2	0	1	3	2	0	4	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:140181874A>T	ENST00000522353.2	+	1	1092	c.1092A>T	c.(1090-1092)ccA>ccT	p.P364P	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.P364P|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACTCTCCACTTAGCACAG	0.488													24	58					0	0	0	0	T	140181874	A	T	140181874	2	4	316	1	0	0	0	0	0	0	0	1	11596	146	6	5		5	PCDHA3	5	140181874	Silent	SNP	A	TCGA-CV-7425-01A-11D-2078-08	60845851	140181874	40733386	47	56240											
PCDHA13	56136	broad.mit.edu	37	chr5	140263705	140263705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctggcggcggtcggcGcgcgcatcccgttccgcgtg	2	7	17	15	9	0	0	0	0	0	0	3	0	2	0	2	4	2	4	2	4	0	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:140263705G>A	ENST00000289272.2	+	1	1852	c.1852G>A	c.(1852-1854)Gcg>Acg	p.A618T	PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A618T|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGTCGGCGCGCGCATCCC	0.687													25	48					0	0	0	0	A	140263705	G	A	140263705	3	1	316	1	0	0	0	0	1	0	0	0	11594	1087	38	1	1854	1	PCDHA13	5	140263705	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	81831	140263705	40651555	48	56241											
PCDHB8	56128	broad.mit.edu	37	chr5	140558774	140558774	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaataagttgctccattCaggaggatctacccttcctc	11	11	8	11	0	2	0	1	0	1	0	5	3	4	3	3	3	2	2	3	3	4	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:140558774C>T	ENST00000239444.2	+	1	1404	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		387	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCTCCATTCAGGAGGATCT	0.458													15	135					0	0	0	0	T	140558774	C	T	140558774	4	4	316	1	0	0	0	0	0	1	0	0	11619	827	29	2	1161	2	PCDHB8	5	140558774	Nonsense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	295069	140558774	40356486	49	56242											
KIF4B	285643	broad.mit.edu	37	chr5	154395571	154395571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaagcgactcaaggatgctCtccagaaacaacgagaggtc	15	5	10	11	2	2	2	1	0	1	2	4	5	2	3	1	2	4	1	1	2	4	0			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:154395571C>T	ENST00000435029.4	+	1	2312	c.2152C>T	c.(2152-2154)Ctc>Ttc	p.L718F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	718	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAAGGATGCTCTCCAGAAACA	0.473													13	33					0	0	0	0	T	154395571	C	T	154395571	3	4	316	1	0	0	0	0	1	0	0	0	8355	913	32	2	2154	2	KIF4B	5	154395571	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	13836797	154395571	26519689	50	56243											
GPRIN1	114787	broad.mit.edu	37	chr5	176025296	176025296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccttttccccccgtcgCtggctcagcctttactgcag	4	13	7	17	2	2	0	1	0	1	0	5	0	3	0	5	1	3	3	5	1	1	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:176025296C>T	ENST00000303991.4	-	2	1717	c.1540G>A	c.(1540-1542)Gcg>Acg	p.A514T		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	514						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCCCGTCGCTGGCTCAGCC	0.627													12	34					0	0	0	0	T	176025296	C	T	176025296	3	4	316	1	0	0	0	0	1	0	0	0	6779	797	28	4	1490	4	GPRIN1	5	176025296	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	21629725	176025296	4889964	51	56244											
HLA-C	3107	broad.mit.edu	37	chr6	31239382	31239382	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggtcactcaccgtcctCgctctggttgtagtagccgc	4	10	12	15	4	3	0	2	0	1	0	5	0	4	0	4	3	1	4	4	3	2	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:31239382C>A	ENST00000383329.3	-	2	351	c.337G>T	c.(337-339)Gag>Tag	p.E113*	HLA-C_ENST00000376228.5_Nonsense_Mutation_p.E113*			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	113	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TCACCGTCCTCGCTCTGGTTG	0.692													5	20					1.23904e-05	1.33622e-05	1	0	A	31239382	C	A	31239382	4	1	316	1	0	0	0	0	0	1	0	0	7247	893	31	3	791	3	HLA-C	6	31239382	Nonsense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08		31239382	139875685	52	56245											
POU3F2	5454	broad.mit.edu	37	chr6	99283616	99283616	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaactgggatttacccaagcGgacgtggggctggctctggg	8	8	16	9	2	1	0	0	0	1	0	1	2	1	2	1	6	3	2	1	6	3	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:99283616G>A	ENST00000328345.5	+	1	1037	c.867G>A	c.(865-867)gcG>gcA	p.A289A		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	289	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		TTACCCAAGCGGACGTGGGGC	0.607													39	153					0	0	0	0	A	99283616	G	A	99283616	2	1	316	1	0	0	0	0	0	0	0	1	12346	1103	39	1		1	POU3F2	6	99283616	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08	68044234	99283616	71831451	53	56246											
LIN28B	389421	broad.mit.edu	37	chr6	105474273	105474273	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgagtcaatacgggtaaCaggacctggtgggagcccct	9	8	13	11	1	1	1	1	1	0	0	1	3	1	3	4	4	3	1	4	4	3	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:105474273C>G	ENST00000345080.4	+	3	502	c.299C>G	c.(298-300)aCa>aGa	p.T100R		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	100	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATACGGGTAACAGGACCTGGT	0.403													21	87					0	0	0	0	G	105474273	C	G	105474273	3	3	316	1	0	0	0	0	1	0	0	0	8861	478	17	4	309	4	LIN28B	6	105474273	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	6190657	105474273	65640794	54	56247											
SYNE1	23345	broad.mit.edu	37	chr6	152674420	152674420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaacgtcttcaatttcttcCccatcattactgtatctact	9	16	2	14	1	5	0	2	0	3	0	6	0	6	0	3	0	3	1	3	0	5	6			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:152674420C>T	ENST00000367255.5	-	69	11832	c.11231G>A	c.(11230-11232)gGg>gAg	p.G3744E	SYNE1_ENST00000341594.5_Missense_Mutation_p.G3715E|SYNE1_ENST00000448038.1_Missense_Mutation_p.G3729E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G3744E|SYNE1_ENST00000423061.1_Missense_Mutation_p.G3729E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3744					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAATTTCTTCCCCATCATTAC	0.423										HNSCC(10;0.0054)			38	149					0	0	0	0	T	152674420	C	T	152674420	3	4	316	1	0	0	0	0	1	0	0	0	15536	623	22	4	15547	4	SYNE1	6	152674420	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	47200147	152674420	18440647	55	56248											
SYNJ2	8871	broad.mit.edu	37	chr6	158449945	158449945	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagctttgaagaaaatcctCagctcgggggtgttctattt	10	14	10	7	1	2	2	1	1	1	1	4	2	3	2	1	2	2	3	1	2	5	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:158449945C>G	ENST00000355585.4	+	3	447	c.372C>G	c.(370-372)ctC>ctG	p.L124L	SYNJ2_ENST00000449859.2_Silent_p.L73L|SYNJ2_ENST00000367122.2_Silent_p.L124L|SYNJ2_ENST00000367121.3_Silent_p.L124L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	124	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGAAAATCCTCAGCTCGGGGG	0.512													12	29					0	0	0	0	G	158449945	C	G	158449945	2	3	316	1	0	0	0	0	0	0	0	1	15544	813	29	2		2	SYNJ2	6	158449945	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08	5775525	158449945	12665122	56	56249											
DGKB	1607	broad.mit.edu	37	chr7	14758228	14758228	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtaacagacaatgtccttCagatggattacttctgggga	12	11	11	7	0	2	2	1	0	1	2	3	4	3	4	1	4	2	1	1	4	3	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:14758228C>T	ENST00000403951.2	-	6	824	c.405G>A	c.(403-405)ctG>ctA	p.L135L	DGKB_ENST00000258767.5_Silent_p.L135L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Silent_p.L128L|DGKB_ENST00000444700.2_Silent_p.L128L|DGKB_ENST00000402815.1_Silent_p.L135L|DGKB_ENST00000406247.3_Silent_p.L135L|DGKB_ENST00000399322.3_Silent_p.L135L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	135					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CAATGTCCTTCAGATGGATTA	0.428													11	25					0	0	0	0	T	14758228	C	T	14758228	2	4	316	1	0	0	0	0	0	0	0	1	4503	813	29	2		2	DGKB	7	14758228	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08		14758228	144380435	57	56250											
ZNF804B	219578	broad.mit.edu	37	chr7	88963052	88963052	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgattgtaacaagtcaccCatttataaaacaaaacaaac	20	9	3	9	0	1	1	1	1	0	0	1	1	1	1	1	0	4	1	1	0	8	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:88963052C>G	ENST00000333190.4	+	4	1365	c.756C>G	c.(754-756)ccC>ccG	p.P252P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	252						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACAAGTCACCCATTTATAAAA	0.343										HNSCC(36;0.09)			7	36					0	0	0	0	G	88963052	C	G	88963052	2	3	316	1	0	0	0	0	0	0	0	1	18264	581	21	4		4	ZNF804B	7	88963052	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08	74204824	88963052	70175611	58	56251											
DOCK4	9732	broad.mit.edu	37	chr7	111368497	111368497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggtagcgggacggggcGccgcagagtccgctcgtaga	7	5	19	10	6	0	3	0	1	0	2	2	4	1	4	2	4	1	4	2	4	2	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:111368497G>A	ENST00000428084.1	-	53	6033	c.5761C>T	c.(5761-5763)Cgc>Tgc	p.R1921C	DOCK4_ENST00000494651.2_Missense_Mutation_p.R795C|DOCK4_ENST00000437633.1_Missense_Mutation_p.R1912C			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1912	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGGACGGGGCGCCGCAGAGTC	0.716													13	34					0	0	0	0	A	111368497	G	A	111368497	3	1	316	1	0	0	0	0	1	0	0	0	4725	1087	38	1	170	1	DOCK4	7	111368497	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	22405445	111368497	47770166	59	56252											
PRSS1	5644	broad.mit.edu	37	chr7	142458445	142458445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatgacaagatcgttggggGctacaactgtgaggagaatt	12	10	14	5	1	0	5	0	3	0	2	1	6	0	5	0	3	2	2	0	3	4	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:142458445G>A	ENST00000486171.1	+	2	97	c.80G>A	c.(79-81)gGc>gAc	p.G27D	PRSS1_ENST00000311737.7_Missense_Mutation_p.G27D			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	27	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATCGTTGGGGGCTACAACTGT	0.537													22	153					0	0	0	0	A	142458445	G	A	142458445	3	1	316	1	0	0	0	0	1	0	0	0	12693	1203	42	4	86	4	PRSS1	7	142458445	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	31089948	142458445	16680218	60	56253											
TMEM176B	28959	broad.mit.edu	37	chr7	150490279	150490279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagggaagacagggtctgagCgatcacacacagtgtcgatg	12	7	14	8	2	2	2	1	1	1	1	3	5	2	3	0	2	1	0	0	2	2	1	rs144557912		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:150490279C>T	ENST00000447204.2	-	5	869	c.497G>A	c.(496-498)cGc>cAc	p.R166H	TMEM176B_ENST00000450753.2_Missense_Mutation_p.R129H|TMEM176B_ENST00000434545.1_Missense_Mutation_p.R166H|TMEM176B_ENST00000429904.2_Missense_Mutation_p.R166H|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R166H|TMEM176B_ENST00000492607.1_Missense_Mutation_p.R166H	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	166					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)		AGGGTCTGAGCGATCACACAC	0.507													11	48					0	0	0	0	T	150490279	C	T	150490279	3	4	316	1	0	0	0	0	1	0	0	0	16187	768	27	1	327	1	TMEM176B	7	150490279	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	8031834	150490279	8648384	61	56254											
NCOA2	10499	broad.mit.edu	37	chr8	71071826	71071826	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcgtttgtgcagcaacAagagtgccatcagacaagga	12	9	10	10	1	2	2	1	0	1	2	3	3	2	3	1	1	4	3	1	1	3	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr8:71071826A>G	ENST00000452400.2	-	10	1219	c.1038T>C	c.(1036-1038)ctT>ctC	p.L346L		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	346					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTGCAGCAACAAGAGTGCCAT	0.408			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								21	47					0	0	0	0	G	71071826	A	G	71071826	2	3	316	1	0	0	0	0	0	0	0	1	10299	117	5	5		5	NCOA2	8	71071826	Silent	SNP	A	TCGA-CV-7425-01A-11D-2078-08		71071826	75292196	62	56255											
INTS8	55656	broad.mit.edu	37	chr8	95866050	95866050	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtgggaagtaccttctgtCtatagtggtgttatcctggg	7	15	13	6	0	2	0	0	0	2	0	3	1	3	1	2	3	1	2	2	3	6	6			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr8:95866050C>G	ENST00000523731.1	+	14	1792	c.1659C>G	c.(1657-1659)gtC>gtG	p.V553V	INTS8_ENST00000447247.1_Silent_p.V553V|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	553					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TACCTTCTGTCTATAGTGGTG	0.333													18	64					0	0	0	0	G	95866050	C	G	95866050	2	3	316	1	0	0	0	0	0	0	0	1	7837	900	32	2		2	INTS8	8	95866050	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08	24794224	95866050	50497972	63	56256											
UBR5	51366	broad.mit.edu	37	chr8	103317373	103317373	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactgatacacaagcatgcaAaatatttcgatttccatcac	16	11	4	10	1	1	1	1	1	0	0	3	2	2	1	1	0	4	2	1	0	6	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr8:103317373A>G	ENST00000520539.1	-	21	3373	c.2767T>C	c.(2767-2769)Ttg>Ctg	p.L923L	UBR5_ENST00000220959.4_Silent_p.L923L|UBR5_ENST00000521922.1_Silent_p.L917L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	923					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAAGCATGCAAAATATTTCGA	0.373													25	104					0	0	0	0	G	103317373	A	G	103317373	2	3	316	1	0	0	0	0	0	0	0	1	17001	11	1	5		5	UBR5	8	103317373	Silent	SNP	A	TCGA-CV-7425-01A-11D-2078-08	7451323	103317373	43046649	64	56257											
EBAG9	9166	broad.mit.edu	37	chr8	110575682	110575682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtttcatcatcccactcctaCctccactccctacattaacc	9	12	1	19	0	2	0	2	0	0	0	6	0	6	0	6	0	3	1	6	0	3	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr8:110575682C>T	ENST00000531677.1	+	6	578	c.578C>T	c.(577-579)aCc>aTc	p.T193I	EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron			O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	174					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CCCACTCCTACCTCCACTCCC	0.428													47	138					0	0	0	0	T	110575682	C	T	110575682	3	4	316	1	0	0	0	0	1	0	0	0	4915	522	18	4		4	EBAG9	8	110575682	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	7258309	110575682	35788340	65	56258											
NAPRT1	93100	broad.mit.edu	37	chr8	144659308	144659308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccggccaccggcacacctCgcagctggcccgctagcacg	6	4	11	20	5	0	0	0	0	0	0	2	0	1	0	5	3	2	5	5	3	1	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr8:144659308C>T	ENST00000449291.2	-	5	902	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Missense_Mutation_p.R203Q|NAPRT1_ENST00000435154.3_Missense_Mutation_p.R203Q|NAPRT1_ENST00000276844.7_Missense_Mutation_p.R203Q			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	203					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGGCACACCTCGCAGCTGGCC	0.677													6	20					0	0	0	0	T	144659308	C	T	144659308	3	4	316	1	0	0	0	0	1	0	0	0	10235	884	31	1	1044	1	NAPRT1	8	144659308	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	34083626	144659308	1704714	66	56259											
ZDHHC21	340481	broad.mit.edu	37	chr9	14674243	14674243	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaaagaggacaattttGggaattaaaacaatattgta	18	11	10	2	0	0	2	0	1	0	1	0	5	0	5	0	3	1	1	0	3	8	6			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:14674243G>T	ENST00000380916.3	-	4	562	c.96C>A	c.(94-96)ccC>ccA	p.P32P		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	32					nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		GGACAATTTTGGGAATTAAAA	0.333													12	198					0.000151284	0.000160012	1	0	T	14674243	G	T	14674243	2	4	316	1	0	0	0	0	0	0	0	1	17707	1348	47	4		4	ZDHHC21	9	14674243	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08		14674243	126539188	67	56260											
FREM1	158326	broad.mit.edu	37	chr9	14740170	14740170	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaaaaggactttctcccaCcaatgtcccagagccaccgc	11	7	6	17	1	1	1	0	0	1	1	4	2	3	2	6	1	1	0	6	1	3	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:14740170C>G	ENST00000380881.4	-	37	7135	c.6320G>C	c.(6319-6321)gGt>gCt	p.G2107A	FREM1_ENST00000380880.3_Missense_Mutation_p.G2106A|FREM1_ENST00000422223.2_Missense_Mutation_p.G2106A|FREM1_ENST00000380894.1_Missense_Mutation_p.G642A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2106	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTTCTCCCACCAATGTCCCA	0.502													11	162					0	0	0	0	G	14740170	C	G	14740170	3	3	316	1	0	0	0	0	1	0	0	0	6092	507	18	4	230	4	FREM1	9	14740170	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	65927	14740170	126473261	68	56261											
UNC13B	10497	broad.mit.edu	37	chr9	35310565	35310565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaacaagatgacgaccatcGggagacggactcgattcatt	13	7	11	10	5	1	3	1	1	0	2	3	8	1	4	1	2	1	0	1	2	2	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:35310565G>A	ENST00000378495.3	+	9	1085	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	UNC13B_ENST00000396787.1_Missense_Mutation_p.R300Q|UNC13B_ENST00000378496.4_Missense_Mutation_p.R288Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	288					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GACGACCATCGGGAGACGGAC	0.517													40	218					0	0	0	0	A	35310565	G	A	35310565	3	1	316	1	0	0	0	0	1	0	0	0	17081	1116	39	1	897	1	UNC13B	9	35310565	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	20570395	35310565	105902866	69	56262											
TRPM3	80036	broad.mit.edu	37	chr9	73151732	73151732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcccaaggatgttcaCggaattgtccagagggtcta	10	8	12	11	1	2	1	1	0	1	1	3	3	3	3	3	3	1	1	3	3	3	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:73151732C>A	ENST00000377110.2	-	25	4504	c.4261G>T	c.(4261-4263)Gtg>Ttg	p.V1421L	TRPM3_ENST00000357533.2_Missense_Mutation_p.V1425L|TRPM3_ENST00000423814.3_Missense_Mutation_p.V1448L|TRPM3_ENST00000377105.1_Missense_Mutation_p.V1280L|TRPM3_ENST00000377106.1_Missense_Mutation_p.V1293L|TRPM3_ENST00000408909.2_Missense_Mutation_p.V1280L|TRPM3_ENST00000396280.5_Missense_Mutation_p.V1270L|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.V1283L|TRPM3_ENST00000396292.4_Missense_Mutation_p.V1293L|TRPM3_ENST00000396285.1_Missense_Mutation_p.V1280L|TRPM3_ENST00000360823.2_Missense_Mutation_p.V1283L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1446						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGGATGTTCACGGAATTGTCC	0.502													13	55					2.61681e-11	3.0841e-11	1	0	A	73151732	C	A	73151732	3	1	316	1	0	0	0	0	1	0	0	0	16682	536	19	3	866	3	TRPM3	9	73151732	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	37841167	73151732	68061699	70	56263											
PCSK5	5125	broad.mit.edu	37	chr9	78848501	78848501	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggccctacccactgcacctCctgtggagcaggtgagagac	8	7	12	14	0	0	2	0	1	0	1	1	4	1	3	4	3	3	2	4	3	1	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:78848501C>A	ENST00000545128.1	+	22	3393	c.2855C>A	c.(2854-2856)tCc>tAc	p.S952Y		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	655					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACTGCACCTCCTGTGGAGCA	0.532													11	54					3.07112e-06	3.37823e-06	1	0	A	78848501	C	A	78848501	3	1	316	1	0	0	0	0	1	0	0	0	11674	870	30	2		2	PCSK5	9	78848501	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	5696769	78848501	62364930	71	56264											
DAB2IP	153090	broad.mit.edu	37	chr9	124522529	124522529	+	Frame_Shift_Del	DEL	G	G	-																															ggcaagggccctggacccatGatccgcatcaaggcgcgcta																										TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:124522529delG	ENST00000408936.3	+	6	1163	c.981delG	c.(979-981)atfs	p.M327fs	DAB2IP_ENST00000309989.1_Frame_Shift_Del_p.M203fs|DAB2IP_ENST00000259371.2_Frame_Shift_Del_p.M299fs			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	327					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGGACCCATGATCCGCATCA	0.622													16	12	---	---	---	---					-	124522529	G	-	124522529	7	5	316	1	0	1	0	1	0	0	0	0	4252	1290	45	0	919	0	DAB2IP	9	124522529	Frame_Shift_Del	DEL	G	TCGA-CV-7425-01A-11D-2078-08	45674028	124522529	16690902	72	56265											
MAN1B1	11253	broad.mit.edu	37	chr9	139994165	139994165	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgcatctgaactatcgcCagaagggcgtgattgacgtc	10	10	12	9	3	1	4	0	3	1	1	3	4	1	4	1	1	2	1	1	1	4	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:139994165C>T	ENST00000371589.4	+	6	821	c.748C>T	c.(748-750)Cag>Tag	p.Q250*	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	250					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GAACTATCGCCAGAAGGGCGT	0.582													50	49					0	0	0	0	T	139994165	C	T	139994165	4	4	316	1	0	0	0	0	0	1	0	0	9281	595	21	4	770	4	MAN1B1	9	139994165	Nonsense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	15471636	139994165	1219266	73	56266											
SORCS3	22986	broad.mit.edu	37	chr10	106937929	106937929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatggagacccacatcatGacgtgagtacttcttttgct	10	12	10	9	1	2	3	1	2	1	1	2	5	2	4	1	2	2	2	1	2	2	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr10:106937929G>T	ENST00000369701.3	+	14	2234	c.2007G>T	c.(2005-2007)atG>atT	p.M669I	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	669						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCCACATCATGACGTGAGTAC	0.493													4	34					0.00024832	0.000259322	1	0	T	106937929	G	T	106937929	3	4	316	1	0	0	0	0	1	0	0	0	15020	1290	45	2	2061	2	SORCS3	10	106937929	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08		106937929	28596818	74	56267											
ABCC8	6833	broad.mit.edu	37	chr11	17428629	17428629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggatctcagcacgctggtGcagcatggacgacaggttgt	8	9	15	9	2	1	0	1	0	1	0	2	3	1	2	0	4	3	5	0	4	0	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:17428629G>A	ENST00000302539.4	-	25	3096	c.2971C>T	c.(2971-2973)Cac>Tac	p.H991Y	ABCC8_ENST00000389817.3_Missense_Mutation_p.H990Y	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	990					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCACGCTGGTGCAGCATGGAC	0.607													8	23					0	0	0	0	A	17428629	G	A	17428629	3	1	316	1	0	0	0	0	1	0	0	0	58	1319	46	4	1837	4	ABCC8	11	17428629	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08		17428629	117577887	75	56268											
CELF1	10658	broad.mit.edu	37	chr11	47504267	47504267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaaatactggggtccaaGagtatttagaccagcaaggt	13	10	11	7	0	0	2	0	0	0	2	1	2	1	2	2	3	3	3	2	3	7	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:47504267G>T	ENST00000395290.2	-	6	673	c.664C>A	c.(664-666)Ctt>Att	p.L222I	CELF1_ENST00000361904.3_Missense_Mutation_p.L223I|CELF1_ENST00000358597.3_Missense_Mutation_p.L223I|CELF1_ENST00000310513.5_Missense_Mutation_p.L223I|CELF1_ENST00000395292.2_Missense_Mutation_p.L223I|CELF1_ENST00000532048.1_Missense_Mutation_p.L249I|CELF1_ENST00000531165.1_Missense_Mutation_p.L250I	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	223					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TGGGGTCCAAGAGTATTTAGA	0.502													10	33					3.07112e-06	3.37823e-06	1	0	T	47504267	G	T	47504267	3	4	316	1	0	0	0	0	1	0	0	0	3244	942	33	2	824	2	CELF1	11	47504267	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	30075638	47504267	87502249	76	56269											
SLC3A2	6520	broad.mit.edu	37	chr11	62656109	62656109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcccctcttgagctggaaCgcctgaaactggagcctcac	8	8	10	15	1	2	2	1	2	1	0	3	4	3	4	4	2	4	2	4	2	2	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:62656109C>T	ENST00000377892.1	+	13	2154	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	SLC3A2_ENST00000377891.2_Missense_Mutation_p.R614C|SLC3A2_ENST00000535296.1_Missense_Mutation_p.R582C|SLC3A2_ENST00000377889.2_Missense_Mutation_p.R551C|SLC3A2_ENST00000536981.1_Missense_Mutation_p.R158C|SLC3A2_ENST00000338663.7_Missense_Mutation_p.R512C|SLC3A2_ENST00000377890.2_Missense_Mutation_p.R613C			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	613					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TGAGCTGGAACGCCTGAAACT	0.657													12	36					0	0	0	0	T	62656109	C	T	62656109	3	4	316	1	0	0	0	0	1	0	0	0	14715	536	19	1	1983	1	SLC3A2	11	62656109	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	15151842	62656109	72350407	77	56270											
SART1	9092	broad.mit.edu	37	chr11	65732031	65732031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacccttggaggttaatgcCatcaagaagggtgagtatgg	13	9	13	6	0	1	2	1	1	0	1	1	3	1	3	2	4	2	2	2	4	5	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:65732031C>T	ENST00000312397.5	+	3	509	c.417C>T	c.(415-417)gcC>gcT	p.A139A	SART1_ENST00000528573.1_3'UTR	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	139					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGTTAATGCCATCAAGAAGG	0.517													5	51					0	0	0	0	T	65732031	C	T	65732031	2	4	316	1	0	0	0	0	0	0	0	1	13932	581	21	4		4	SART1	11	65732031	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08	3075922	65732031	69274485	78	56271											
MTNR1B	4544	broad.mit.edu	37	chr11	92715442	92715442	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagagcccagctccaccCatcattggtgtgcagcacca	9	7	9	16	0	1	1	1	0	0	1	2	1	2	1	4	1	5	4	4	1	0	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:92715442C>T	ENST00000257068.2	+	2	1059	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	351					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.P351P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CAGCTCCACCCATCATTGGTG	0.567													9	53					0	0	0	0	T	92715442	C	T	92715442	2	4	316	1	0	0	0	0	0	0	0	1	10022	581	21	4		4	MTNR1B	11	92715442	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08	26983411	92715442	42291074	79	56272											
CASP4	837	broad.mit.edu	37	chr11	104820329	104820329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagactgaggcagttgCggttgttgaatatctggaag	9	12	13	7	1	2	3	1	2	1	1	2	4	2	4	1	3	1	4	1	3	3	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:104820329C>T	ENST00000444739.2	-	5	1632	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CASP4_ENST00000393150.3_Missense_Mutation_p.R185H	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	241					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.R241H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GAGGCAGTTGCGGTTGTTGAA	0.473													14	77					0	0	0	0	T	104820329	C	T	104820329	3	4	316	1	0	0	0	0	1	0	0	0	2698	768	27	1	427	1	CASP4	11	104820329	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	12104887	104820329	30186187	80	56273											
HTR3B	9177	broad.mit.edu	37	chr11	113803665	113803665	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgtttgcagtggaagaCgtagacctggcctttctgag	7	13	14	7	1	1	3	0	1	1	2	1	4	1	4	2	2	1	4	2	2	2	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:113803665C>T	ENST00000260191.2	+	6	803	c.546C>T	c.(544-546)gaC>gaT	p.D182D	HTR3B_ENST00000537778.1_Silent_p.D171D	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	182					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CAGTGGAAGACGTAGACCTGG	0.463													3	51					0	0	0	0	T	113803665	C	T	113803665	2	4	316	1	0	0	0	0	0	0	0	1	7498	535	19	1		1	HTR3B	11	113803665	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08	8983336	113803665	21202851	81	56274											
PANX3	116337	broad.mit.edu	37	chr11	124489330	124489330	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctccgccacttacctataCcttggtcatttccatctgga	8	13	5	15	1	2	0	1	0	1	0	4	1	4	1	6	2	2	0	6	2	3	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:124489330C>A	ENST00000284288.2	+	4	745	c.678C>A	c.(676-678)taC>taA	p.Y226*		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	226					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CTTACCTATACCTTGGTCATT	0.507													3	23					6.4e-05	6.85714e-05	1	0	A	124489330	C	A	124489330	4	1	316	1	0	0	0	0	0	1	0	0	11493	518	18	4	692	4	PANX3	11	124489330	Nonsense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	10685665	124489330	10517186	82	56275											
PDE3A	5139	broad.mit.edu	37	chr12	20766410	20766410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattactgtggacatcgccGtcatgggcgaggcccacggc	7	8	14	12	4	1	0	1	0	0	0	2	2	1	1	2	4	1	1	2	4	2	2	rs150253039	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:20766410G>A	ENST00000359062.3	+	3	1085	c.1045G>A	c.(1045-1047)Gtc>Atc	p.V349I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	349					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.V349I(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGACATCGCCGTCATGGGCGA	0.517													8	44					0	0	0	0	A	20766410	G	A	20766410	3	1	316	1	0	0	0	0	1	0	0	0	11708	1145	40	1	1055	1	PDE3A	12	20766410	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08		20766410	113085485	83	56276											
AQP6	363	broad.mit.edu	37	chr12	50369453	50369453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtggagatggagagtgtgtGaaacagcctacgcctggccg	9	7	16	9	3	0	3	0	1	0	2	0	5	0	3	3	3	3	0	3	3	2	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:50369453G>A	ENST00000315520.5	+	4	1185	c.848G>A	c.(847-849)tGa>tAa	p.*283*	AQP6_ENST00000551733.1_Silent_p.*109*	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	0					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	p.*283S(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GAGAGTGTGTGAAACAGCCTA	0.672													4	12					0	0	0	0	A	50369453	G	A	50369453	2	1	316	1	0	0	0	0	0	0	0	1	832	1285	45	2		2	AQP6	12	50369453	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08	29603043	50369453	83482442	84	56277											
SLC4A8	9498	broad.mit.edu	37	chr12	51855040	51855040	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcagcagtaccatgagAttggcagatccatggccacc	12	7	11	11	0	1	2	1	1	0	2	2	3	2	2	4	3	2	3	4	3	2	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:51855040A>T	ENST00000453097.2	+	9	1283	c.1066A>T	c.(1066-1068)Att>Ttt	p.I356F	SLC4A8_ENST00000394856.1_Missense_Mutation_p.I303F|SLC4A8_ENST00000358657.3_Missense_Mutation_p.I383F|SLC4A8_ENST00000535225.2_Missense_Mutation_p.I303F|SLC4A8_ENST00000514353.3_Missense_Mutation_p.I303F	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	356					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GTACCATGAGATTGGCAGATC	0.378													7	23					0	0	0	0	T	51855040	A	T	51855040	3	4	316	1	0	0	0	0	1	0	0	0	14747	333	12	5	1100	5	SLC4A8	12	51855040	Missense_Mutation	SNP	A	TCGA-CV-7425-01A-11D-2078-08	1485587	51855040	81996855	85	56278											
CSAD	51380	broad.mit.edu	37	chr12	53554091	53554091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgggacccatggcagcGcttgagcaggttctgtgtgg	5	9	17	10	1	1	1	0	1	1	0	1	2	1	2	2	5	2	4	2	5	0	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:53554091G>A	ENST00000267085.4	-	14	1293	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	CSAD_ENST00000453446.2_Missense_Mutation_p.R327C|CSAD_ENST00000379843.3_Missense_Mutation_p.R180C|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000444623.1_Missense_Mutation_p.R327C|CSAD_ENST00000379846.1_Missense_Mutation_p.R180C	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	327					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCATGGCAGCGCTTGAGCAGG	0.602													3	37					0	0	0	0	A	53554091	G	A	53554091	3	1	316	1	0	0	0	0	1	0	0	0	3955	1087	38	1	518	1	CSAD	12	53554091	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	1699051	53554091	80297804	86	56279											
KIF5A	3798	broad.mit.edu	37	chr12	57968891	57968891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagatcagtggggccatcGaggaggagttcactgtggcc	8	8	17	8	1	2	1	2	0	0	1	3	5	2	3	2	6	0	1	2	6	0	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:57968891G>A	ENST00000455537.2	+	16	2015	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E492K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	581					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TGGGGCCATCGAGGAGGAGTT	0.527													4	19					0	0	0	0	A	57968891	G	A	57968891	3	1	316	1	0	0	0	0	1	0	0	0	8356	1059	37	1	1803	1	KIF5A	12	57968891	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	4414800	57968891	75883004	87	56280											
TRHDE	29953	broad.mit.edu	37	chr12	72969274	72969274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattggcctcaggttctttCtgtcagtaaccgagcgggct	7	13	11	10	2	4	0	2	0	2	0	4	1	4	0	2	3	2	3	2	3	2	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:72969274C>A	ENST00000261180.4	+	12	2234	c.2138C>A	c.(2137-2139)tCt>tAt	p.S713Y	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	713					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAGGTTCTTTCTGTCAGTAAC	0.403													14	30					3.27435e-08	3.75186e-08	1	0	A	72969274	C	A	72969274	3	1	316	1	0	0	0	0	1	0	0	0	16574	913	32	2	2184	2	TRHDE	12	72969274	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	15000383	72969274	60882621	88	56281											
OSBPL8	114882	broad.mit.edu	37	chr12	76763056	76763056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttcaaactgtatcatatCattaagtgggtcccatggtc	10	16	7	8	0	3	0	3	0	0	0	5	0	4	0	1	2	1	1	1	2	4	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:76763056C>T	ENST00000261183.3	-	21	2745	c.2266G>A	c.(2266-2268)Gat>Aat	p.D756N	OSBPL8_ENST00000393250.4_Missense_Mutation_p.D714N|OSBPL8_ENST00000393249.2_Missense_Mutation_p.D714N	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	756					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGTATCATATCATTAAGTGGG	0.303													8	42					0	0	0	0	T	76763056	C	T	76763056	3	4	316	1	0	0	0	0	1	0	0	0	11354	826	29	2	419	2	OSBPL8	12	76763056	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	3793782	76763056	57088839	89	56282											
PCDH17	27253	broad.mit.edu	37	chr13	58207860	58207860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgtcgggtcctaggcGgaggagggacgggcggcggc	5	5	22	9	5	0	0	0	0	0	0	2	3	1	3	1	8	1	1	1	8	1	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr13:58207860G>A	ENST00000377918.3	+	1	1206	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	394	Cadherin 4.|Gly-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGTCCTAGGCGGAGGAGGGAc	0.692													4	6					0	0	0	0	A	58207860	G	A	58207860	3	1	316	1	0	0	0	0	1	0	0	0	11583	1117	39	1	1182	1	PCDH17	13	58207860	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08		58207860	56962018	90	56283											
PIBF1	10464	broad.mit.edu	37	chr13	73505317	73505317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctagtgttcacttggcaaGaagagtgcttcaattagaaa	13	11	10	7	0	2	3	2	0	0	3	2	3	2	3	1	1	1	3	1	1	6	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr13:73505317G>A	ENST00000326291.6	+	14	2083	c.1745G>A	c.(1744-1746)aGa>aAa	p.R582K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	582						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CACTTGGCAAGAAGAGTGCTT	0.318													12	30					0	0	0	0	A	73505317	G	A	73505317	3	1	316	1	0	0	0	0	1	0	0	0	11951	942	33	2	1795	2	PIBF1	13	73505317	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	15297457	73505317	41664561	91	56284											
DUOX2	50506	broad.mit.edu	37	chr15	45388040	45388040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcacctttgggtatccagCacagccattgccctttgggg	6	10	13	12	0	0	0	0	0	0	0	1	0	1	0	4	4	3	3	4	4	1	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr15:45388040C>T	ENST00000389039.6	-	30	4451	c.4066G>A	c.(4066-4068)Gct>Act	p.A1356T	DUOX2_ENST00000603300.1_Missense_Mutation_p.A1356T			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1356	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGGTATCCAGCACAGCCATTG	0.622													12	10					0	0	0	0	T	45388040	C	T	45388040	3	4	316	1	0	0	0	0	1	0	0	0	4837	710	25	4	600	4	DUOX2	15	45388040	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08		45388040	57143352	92	56285											
NEDD4	4734	broad.mit.edu	37	chr15	56134138	56134138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaaaggtacttacgtagcaGaatattcaaacaacccataa	18	9	6	8	1	1	1	1	0	0	1	1	1	1	1	1	1	5	4	1	1	10	7			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr15:56134138G>A	ENST00000508342.1	-	15	3388	c.3089C>T	c.(3088-3090)tCt>tTt	p.S1030F	NEDD4_ENST00000435532.3_Missense_Mutation_p.S611F|NEDD4_ENST00000338963.2_Missense_Mutation_p.S958F|NEDD4_ENST00000506154.1_Missense_Mutation_p.S1014F			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1030	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.S611C(1)|p.S958C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTACGTAGCAGAATATTCAAA	0.403													28	28					0	0	0	0	A	56134138	G	A	56134138	3	1	316	1	0	0	0	0	1	0	0	0	10380	942	33	2	914	2	NEDD4	15	56134138	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	10746098	56134138	46397254	93	56286											
IQCH	64799	broad.mit.edu	37	chr15	67571827	67571827	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagacagcacagttcatctCtgcctgtctttccaagagca	12	10	7	12	0	3	2	1	0	2	2	5	2	4	2	2	0	3	3	2	0	2	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr15:67571827C>T	ENST00000335894.4	+	4	430	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000512104.1_Silent_p.L122L|IQCH_ENST00000560790.1_3'UTR|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	122										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CAGTTCATCTCTGCCTGTCTT	0.428													28	27					0	0	0	0	T	67571827	C	T	67571827	2	4	316	1	0	0	0	0	0	0	0	1	7864	912	32	2		2	IQCH	15	67571827	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08	11437689	67571827	34959565	94	56287											
CHD2	1106	broad.mit.edu	37	chr15	93563370	93563370	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccattatggggaccggCgacatatggatgcccaccgt	10	7	11	13	3	0	0	0	0	0	0	0	3	0	2	5	4	1	0	5	4	2	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr15:93563370C>T	ENST00000394196.4	+	38	6103	c.5035C>T	c.(5035-5037)Cga>Tga	p.R1679*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.R1679*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1679					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGGGGACCGGCGACATATGGA	0.547													12	17					0	0	0	0	T	93563370	C	T	93563370	4	4	316	1	0	0	0	0	0	1	0	0	3354	760	27	1	5185	1	CHD2	15	93563370	Nonsense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	25991543	93563370	8968022	95	56288											
MSLN	10232	broad.mit.edu	37	chr16	815614	815614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatcatccgcagcatcccGcaggtgagaccccaatcccc	9	5	7	20	2	1	1	1	1	0	1	4	2	4	1	7	1	1	3	7	1	1	0			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr16:815614G>A	ENST00000566549.1	+	9	1209	c.792G>A	c.(790-792)ccG>ccA	p.P264P	MSLN_ENST00000382862.3_Silent_p.P264P|MSLN_ENST00000545450.2_Silent_p.P264P|MSLN_ENST00000563941.1_Silent_p.P264P			Q13421	MSLN_HUMAN	mesothelin	264	Required for megakaryocyte-potentiating factor activity.				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCAGCATCCCGCAGGTGAGAC	0.706													5	15					0	0	0	0	A	815614	G	A	815614	2	1	316	1	0	0	0	0	0	0	0	1	9951	1074	38	1		1	MSLN	16	815614	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08		815614	89539139	96	56289											
CES1	1066	broad.mit.edu	37	chr16	55860122	55860122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatattgaggtaaagacagtCttcagaaagcttgagaggaa	17	9	11	4	0	2	4	1	2	1	3	2	6	2	5	0	2	1	2	0	2	6	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr16:55860122C>T	ENST00000422046.2	-	3	624	c.343G>A	c.(343-345)Gac>Aac	p.D115N	CES1_ENST00000361503.4_Missense_Mutation_p.D115N|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.D116N			P23141	EST1_HUMAN	carboxylesterase 1	115				D -> H (in Ref. 19; AAA83932).	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)	TAAAGACAGTCTTCAGAAAGC	0.512													27	103					0	0	0	0	T	55860122	C	T	55860122	3	4	316	1	0	0	0	0	1	0	0	0	3298	913	32	2	1408	2	CES1	16	55860122	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	55044508	55860122	34494631	97	56290											
CDH13	1012	broad.mit.edu	37	chr16	83813633	83813633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggaggacgtgaatgacaAtgccccgttcatttacccca	10	9	9	13	2	1	2	1	2	0	0	1	4	1	4	5	2	2	1	5	2	3	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr16:83813633A>G	ENST00000566620.1	+	12	2032	c.1742A>G	c.(1741-1743)aAt>aGt	p.N581S	CDH13_ENST00000428848.3_Missense_Mutation_p.N542S|CDH13_ENST00000268613.10_Missense_Mutation_p.N628S	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	581	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTGAATGACAATGCCCCGTTC	0.488													6	18					0	0	0	0	G	83813633	A	G	83813633	3	3	316	1	0	0	0	0	1	0	0	0	3128	101	4	5	1788	5	CDH13	16	83813633	Missense_Mutation	SNP	A	TCGA-CV-7425-01A-11D-2078-08	27953511	83813633	6541120	98	56291											
MYH4	4622	broad.mit.edu	37	chr17	10363395	10363395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgtagatggctttggcCagagcacccactgcattgta	8	12	10	11	1	1	2	0	0	1	2	2	2	1	2	2	2	2	5	2	2	2	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr17:10363395C>T	ENST00000255381.2	-	14	1400	c.1290G>A	c.(1288-1290)ctG>ctA	p.L430L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	430	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCTTTGGCCAGAGCACCCA	0.473													16	164					0	0	0	0	T	10363395	C	T	10363395	2	4	316	1	0	0	0	0	0	0	0	1	10107	581	21	4		4	MYH4	17	10363395	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08		10363395	70831815	99	56292											
ALDOC	230	broad.mit.edu	37	chr17	26902241	26902241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catggaagaaaatgacgcctCcaatgcactttttcacacgg	13	9	8	11	2	1	2	1	1	0	1	2	3	2	3	2	2	1	1	2	2	4	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr17:26902241C>G	ENST00000226253.4	-	3	699	c.224G>C	c.(223-225)gGa>gCa	p.G75A	ALDOC_ENST00000395319.3_Missense_Mutation_p.G75A|ALDOC_ENST00000395321.2_Missense_Mutation_p.G75A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	75					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AATGACGCCTCCAATGCACTT	0.527											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	24					0	0	0	0	G	26902241	C	G	26902241	3	3	316	1	0	0	0	0	1	0	0	0	509	855	30	2	898	2	ALDOC	17	26902241	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	16538846	26902241	54292969	100	56293											
ATAD5	79915	broad.mit.edu	37	chr17	29220528	29220528	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttgctaggaaacactctGaaagagaacagccattgaaa	16	8	9	8	0	2	3	0	2	2	1	2	5	2	4	1	1	4	1	1	1	5	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr17:29220528G>C	ENST00000321990.4	+	21	5035	c.4657G>C	c.(4657-4659)Gaa>Caa	p.E1553Q		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1553					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAACACTCTGAAAGAGAACA	0.368													19	28					0	0	0	0	C	29220528	G	C	29220528	3	2	316	1	0	0	0	0	1	0	0	0	1080	1291	45	2	4739	2	ATAD5	17	29220528	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	2318287	29220528	51974682	101	56294											
UNC45B	146862	broad.mit.edu	37	chr17	33507656	33507656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgatcagctgcggcaggcGgccaccgagtgcatgtgcaa	9	6	14	12	3	1	1	1	1	0	0	1	2	1	1	2	3	4	4	2	3	1	0			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr17:33507656G>A	ENST00000268876.5	+	18	2437	c.2340G>A	c.(2338-2340)gcG>gcA	p.A780A	UNC45B_ENST00000591048.1_Silent_p.A699A|UNC45B_ENST00000433649.1_Silent_p.A778A|UNC45B_ENST00000394570.2_Silent_p.A778A|UNC45B_ENST00000378449.1_Silent_p.A699A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	780					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGCGGCAGGCGGCCACCGAGT	0.587													9	27					0	0	0	0	A	33507656	G	A	33507656	2	1	316	1	0	0	0	0	0	0	0	1	17085	1103	39	1		1	UNC45B	17	33507656	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08	4287128	33507656	47687554	102	56295											
ERBB2	2064	broad.mit.edu	37	chr17	37883113	37883113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggacagcaccttctacCgctcactgctggaggacgat	8	9	10	14	2	2	0	1	0	1	0	2	4	2	3	3	3	3	3	3	3	1	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr17:37883113C>T	ENST00000406381.2	+	27	3436	c.2926C>T	c.(2926-2928)Cgc>Tgc	p.R976C	ERBB2_ENST00000584450.1_Missense_Mutation_p.R1006C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R991C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R976C|ERBB2_ENST00000269571.5_Missense_Mutation_p.R1006C|ERBB2_ENST00000445658.2_Missense_Mutation_p.R730C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R976C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1006	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CACCTTCTACCGCTCACTGCT	0.637		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			14	58					0	0	0	0	T	37883113	C	T	37883113	3	4	316	1	0	0	0	0	1	0	0	0	5244	652	23	1	3114	1	ERBB2	17	37883113	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	4375457	37883113	43312097	103	56296											
L3MBTL4	91133	broad.mit.edu	37	chr18	6311562	6311562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcttaccaagcgtccGtcctgatccaaacgctcttt	9	11	7	14	3	2	1	0	1	2	0	5	2	5	2	4	1	3	1	4	1	3	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr18:6311562G>A	ENST00000400104.3	-	3	263	c.63C>T	c.(61-63)gaC>gaT	p.D21D	L3MBTL4_ENST00000284898.6_Silent_p.D21D|L3MBTL4_ENST00000400105.2_Silent_p.D21D|L3MBTL4_ENST00000317931.7_Silent_p.D21D			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	21					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CCAAGCGTCCGTCCTGATCCA	0.483													38	131					0	0	0	0	A	6311562	G	A	6311562	2	1	316	1	0	0	0	0	0	0	0	1	8647	1136	40	1		1	L3MBTL4	18	6311562	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08		6311562	71765686	104	56297											
POTEC	388468	broad.mit.edu	37	chr18	14534921	14534921	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccatatctatcaagtgcaTttaaattagcttttttcttg	10	20	4	7	0	3	0	1	0	2	0	4	0	4	0	1	0	2	2	1	0	6	10			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr18:14534921T>A	ENST00000358970.5	-	4	895	c.896A>T	c.(895-897)aAt>aTt	p.N299I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	299										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATCAAGTGCATTTAAATTAGC	0.308													6	54					0	0	0	0	A	14534921	T	A	14534921	3	1	316	1	0	0	0	0	1	0	0	0	12334	1493	52	5	764	5	POTEC	18	14534921	Missense_Mutation	SNP	T	TCGA-CV-7425-01A-11D-2078-08	8223359	14534921	63542327	105	56298											
DOK6	220164	broad.mit.edu	37	chr18	67266711	67266711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctttcacgatgaaacatCgaagacatttgcctgtgagt	12	12	8	9	2	2	3	1	2	1	1	3	5	2	3	1	0	2	0	1	0	2	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr18:67266711C>T	ENST00000382713.5	+	3	456	c.266C>T	c.(265-267)tCg>tTg	p.S89L	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	89	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GATGAAACATCGAAGACATTT	0.448													8	29					0	0	0	0	T	67266711	C	T	67266711	3	4	316	1	0	0	0	0	1	0	0	0	4737	893	31	1	276	1	DOK6	18	67266711	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	52731790	67266711	10810537	106	56299											
NETO1	81832	broad.mit.edu	37	chr18	70526309	70526309	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caatgcactgtcttggagcgGctgtaaagaagaaagattgt	13	10	12	6	1	1	3	0	0	1	3	1	4	1	4	0	2	2	3	0	2	5	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr18:70526309G>T	ENST00000327305.6	-	4	878	c.220_splice	c.e4-1	p.A74_splice	NETO1_ENST00000397929.1_Splice_Site_p.A73_splice|NETO1_ENST00000299430.2_Splice_Site_p.A73_splice|NETO1_ENST00000583169.1_Splice_Site_p.A74_splice|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	74	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCTTGGAGCGGCTGTAAAGAA	0.368													11	49					5.16669e-11	6.04612e-11	1	0	T	70526309	G	T	70526309	5	4	316	1	0	0	0	0	0	0	1	0	10409	1217	42	4	1417	4	NETO1	18	70526309	Splice_Site	SNP	G	TCGA-CV-7425-01A-11D-2078-08	3259598	70526309	7550939	107	56300											
MUC16	94025	broad.mit.edu	37	chr19	9009703	9009703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaacggcaccaggagaGgaacagctgctgtagtggga	11	5	18	7	1	0	2	0	1	0	1	0	5	0	4	1	5	4	4	1	5	3	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:9009703G>T	ENST00000397910.4	-	39	39226	c.39023C>A	c.(39022-39024)cCt>cAt	p.P13008H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13010					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						CACCAGGAGAGGAACAGCTGC	0.453													5	59					5.9392e-07	6.66645e-07	1	0	T	9009703	G	T	9009703	3	4	316	1	0	0	0	0	1	0	0	0	10043	1000	35	4	4684	4	MUC16	19	9009703	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08		9009703	50119280	108	56301											
NR2C2AP	126382	broad.mit.edu	37	chr19	19313662	19313662	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atgtttttttccaaactgccGagtgttgcgattcagcactg	8	15	9	9	2	1	0	1	0	0	0	2	2	2	0	2	0	4	3	2	0	1	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:19313662G>C	ENST00000331552.6	-	2	430	c.67C>G	c.(67-69)Cgg>Ggg	p.R23G	NR2C2AP_ENST00000544883.1_Missense_Mutation_p.R23G|NR2C2AP_ENST00000420605.2_Missense_Mutation_p.R23G|NR2C2AP_ENST00000590907.2_Intron|NR2C2AP_ENST00000538165.2_Missense_Mutation_p.R23G	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	23					cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			CCAAACTGCCGAGTGTTGCGA	0.577													12	41					0	0	0	0	C	19313662	G	C	19313662	3	2	316	1	0	0	0	0	1	0	0	0	10695	1057	37	3	368	3	NR2C2AP	19	19313662	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	10303959	19313662	39815321	109	56302											
ZNF536	9745	broad.mit.edu	37	chr19	30935483	30935483	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggccccaacggcggtggCgagcagtcggccaacgagtt	8	4	16	13	5	0	0	0	0	0	0	1	2	0	0	3	5	3	2	3	5	2	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:30935483C>A	ENST00000355537.3	+	2	1161	c.1014C>A	c.(1012-1014)ggC>ggA	p.G338G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACGGCGGTGGCGAGCAGTCGG	0.652													8	77					5.18039e-06	5.62345e-06	1	0	A	30935483	C	A	30935483	2	1	316	1	0	0	0	0	0	0	0	1	18069	755	27	3		3	ZNF536	19	30935483	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08	11621821	30935483	28193500	110	56303											
WDR88	126248	broad.mit.edu	37	chr19	33623312	33623312	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaagcaccaggtgccGgagaaattgatctggggcga	11	6	15	9	2	1	3	0	2	1	2	1	6	1	3	3	4	2	1	3	4	2	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:33623312G>A	ENST00000361680.2	+	1	315	c.237G>A	c.(235-237)ccG>ccA	p.P79P	WDR88_ENST00000355868.3_Silent_p.P79P|WDR88_ENST00000592765.1_Silent_p.P79P			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	79										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ACCAGGTGCCGGAGAAATTGA	0.657													12	43					0	0	0	0	A	33623312	G	A	33623312	2	1	316	1	0	0	0	0	0	0	0	1	17431	1103	39	1		1	WDR88	19	33623312	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08	2687829	33623312	25505671	111	56304											
ATP4A	495	broad.mit.edu	37	chr19	36048663	36048663	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttgataaggatggagctGcagcgctccagcacgcgctc	8	7	12	14	3	0	1	0	1	0	0	2	3	1	3	2	2	4	5	2	2	1	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:36048663G>T	ENST00000262623.3	-	11	1615	c.1587C>A	c.(1585-1587)tgC>tgA	p.C529*		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	529					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGATGGAGCTGCAGCGCTCCA	0.701													4	11					1.024e-07	1.16524e-07	1	0	T	36048663	G	T	36048663	4	4	316	1	0	0	0	0	0	1	0	0	1149	1311	46	4	1568	4	ATP4A	19	36048663	Nonsense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	2425351	36048663	23080320	112	56305											
ARHGAP35	2909	broad.mit.edu	37	chr19	47491269	47491269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcacggaaggcatctacCgggtcagcgggaacaagtct	11	6	14	10	3	3	1	1	1	2	0	3	3	3	3	1	4	4	2	1	4	4	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:47491269C>T	ENST00000404338.3	+	3	3850	c.3850C>T	c.(3850-3852)Cgg>Tgg	p.R1284W		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1284	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AGGCATCTACCGGGTCAGCGG	0.572													4	15					0	0	0	0	T	47491269	C	T	47491269	3	4	316	1	0	0	0	0	1	0	0	0	6845	643	23	1	3860	1	ARHGAP35	19	47491269	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	11442606	47491269	11637714	113	56306											
NTF4	4909	broad.mit.edu	37	chr19	49564712	49564712	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacggccctgggcatcagcGgtcaatgcccgcacatagga	10	5	12	14	3	2	0	2	0	0	0	2	1	2	1	2	4	2	2	2	4	2	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:49564712G>A	ENST00000301411.3	-	2	683	c.543C>T	c.(541-543)acC>acT	p.T181T	NTF4_ENST00000451356.2_Intron|NTF4_ENST00000593537.1_Silent_p.T181T	NM_006179.4	NP_006170.1	P34130	NTF4_HUMAN	neurotrophin 4	181					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GGGCATCAGCGGTCAATGCCC	0.662													12	26					0	0	0	0	A	49564712	G	A	49564712	2	1	316	1	0	0	0	0	0	0	0	1	10768	1103	39	1		1	NTF4	19	49564712	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08	2073443	49564712	9564271	114	56307											
CEACAM18	729767	broad.mit.edu	37	chr19	51981929	51981929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacccagatggagcctgtgGaggagggtcttcctcatggg	8	8	16	9	0	2	2	1	0	1	2	3	5	3	5	3	5	1	0	3	5	0	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:51981929G>T	ENST00000396477.4	+	1	54	c.33G>T	c.(31-33)tgG>tgT	p.W11C	CEACAM18_ENST00000451626.1_Missense_Mutation_p.W72C	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	72						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGAGCCTGTGGAGGAGGGTCT	0.632													6	16					5.18039e-06	5.62345e-06	1	0	T	51981929	G	T	51981929	3	4	316	1	0	0	0	0	1	0	0	0	3218	1183	41	2	222	2	CEACAM18	19	51981929	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	2417217	51981929	7147054	115	56308											
ZNF613	79898	broad.mit.edu	37	chr19	52443551	52443551	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggacctgtaccgagaCgtgatgttggagaactatag	13	8	13	7	2	0	4	0	1	0	3	0	7	0	5	2	2	2	2	2	2	5	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:52443551C>T	ENST00000293471.6	+	4	784	c.105C>T	c.(103-105)gaC>gaT	p.D35D	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TGTACCGAGACGTGATGTTGG	0.542													26	102					0	0	0	0	T	52443551	C	T	52443551	2	4	316	1	0	0	0	0	0	0	0	1	18133	535	19	1		1	ZNF613	19	52443551	Silent	SNP	C	TCGA-CV-7425-01A-11D-2078-08	461622	52443551	6685432	116	56309											
ZNF616	90317	broad.mit.edu	37	chr19	52619658	52619658	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgtcttacaaaatatgaAttttttctgaagatcttgcc	11	17	7	6	0	3	3	0	2	3	1	3	3	3	3	1	1	2	0	1	1	6	6			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:52619658A>T	ENST00000600228.1	-	4	1020	c.759T>A	c.(757-759)aaT>aaA	p.N253K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CAAAATATGAATTTTTTCTGA	0.398													8	72					0	0	0	0	T	52619658	A	T	52619658	3	4	316	1	0	0	0	0	1	0	0	0	18136	98	4	5	1590	5	ZNF616	19	52619658	Missense_Mutation	SNP	A	TCGA-CV-7425-01A-11D-2078-08	176107	52619658	6509325	117	56310											
LILRA2	11027	broad.mit.edu	37	chr19	55087311	55087311	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctctctctcggtgcagccGgtccccacagtagccccagg	5	7	10	19	2	2	0	0	0	2	0	5	0	3	0	6	3	3	2	6	3	1	1	rs146068077	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:55087311G>T	ENST00000251377.3	+	7	1123	c.990G>T	c.(988-990)ccG>ccT	p.P330P	LILRA2_ENST00000391737.1_Silent_p.P318P|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.P330P|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.P330P|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CGGTGCAGCCGGTCCCCACAG	0.607													11	23					0.00010058	0.000107069	1	0	T	55087311	G	T	55087311	2	4	316	1	0	0	0	0	0	0	0	1	8839	1103	39	3		3	LILRA2	19	55087311	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08	2467653	55087311	4041672	118	56311											
LILRB1	10859	broad.mit.edu	37	chr19	55146110	55146110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtctgggaaggcacctggGggttgtgatcggcatcttgg	6	10	18	7	1	2	1	0	1	2	0	3	2	2	2	1	7	0	3	1	7	1	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:55146110G>T	ENST00000396331.1	+	11	1736	c.1379G>T	c.(1378-1380)gGg>gTg	p.G460V	LILRB1_ENST00000396315.1_Missense_Mutation_p.G461V|LILRB1_ENST00000396327.3_Missense_Mutation_p.G461V|LILRB1_ENST00000418536.2_Missense_Mutation_p.G444V|LILRB1_ENST00000396317.1_Missense_Mutation_p.G444V|LILRB1_ENST00000396332.4_Missense_Mutation_p.G460V|LILRB1_ENST00000396321.2_Missense_Mutation_p.G460V|LILRB1_ENST00000448689.1_Missense_Mutation_p.G460V|LILRB1_ENST00000427581.2_Missense_Mutation_p.G510V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_Missense_Mutation_p.G461V|LILRB1_ENST00000434867.2_Missense_Mutation_p.G460V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	460					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGGCACCTGGGGGTTGTGATC	0.572										HNSCC(37;0.09)			4	17					0.00024832	0.000259322	1	0	T	55146110	G	T	55146110	3	4	316	1	0	0	0	0	1	0	0	0	8844	1232	43	4	1416	4	LILRB1	19	55146110	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	58799	55146110	3982873	119	56312											
NLRP7	199713	broad.mit.edu	37	chr19	55449436	55449436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgcagatgacaggtgCtacgggttacgtggtcacaa	9	11	12	9	2	2	2	1	1	1	1	2	2	2	2	0	3	4	3	0	3	3	3	rs139797510	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:55449436C>T	ENST00000446217.1	-	7	2591	c.2189G>A	c.(2188-2190)aGc>aAc	p.S730N	NLRP7_ENST00000592784.1_Missense_Mutation_p.S702N|NLRP7_ENST00000340844.2_Missense_Mutation_p.S702N|NLRP7_ENST00000328092.5_Missense_Mutation_p.S674N|NLRP7_ENST00000590030.1_Missense_Mutation_p.S702N|NLRP7_ENST00000588756.1_Missense_Mutation_p.S702N|NLRP7_ENST00000448121.2_Missense_Mutation_p.S674N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	702							ATP binding	p.S674I(1)		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)		ATGACAGGTGCTACGGGTTAC	0.433													52	171					0	0	0	0	T	55449436	C	T	55449436	3	4	316	1	0	0	0	0	1	0	0	0	10552	797	28	4	1036	4	NLRP7	19	55449436	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	303326	55449436	3679547	120	56313											
SLC4A11	83959	broad.mit.edu	37	chr20	3211199	3211199	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaggctgaggttgaaaaaGgcataaagcgcaaggaagaa	18	4	13	6	1	0	3	0	2	0	1	0	4	0	4	1	4	1	4	1	4	7	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr20:3211199G>A	ENST00000380059.3	-	12	1607	c.1506C>T	c.(1504-1506)gcC>gcT	p.A502A	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.A475A|SLC4A11_ENST00000539553.1_Silent_p.A459A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	475	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGTTGAAAAAGGCATAAAGCG	0.532													16	57					0	0	0	0	A	3211199	G	A	3211199	2	1	316	1	0	0	0	0	0	0	0	1	14740	987	35	4		4	SLC4A11	20	3211199	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08		3211199	59814321	121	56314											
MCM8	84515	broad.mit.edu	37	chr20	5948561	5948561	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaaaggacagaaaacaaaGagttctgaggatgggtgtaa	18	6	13	4	0	1	3	0	1	1	2	1	5	1	5	0	3	2	3	0	3	5	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr20:5948561G>A	ENST00000378896.3	+	10	1490	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	MCM8_ENST00000265187.4_Silent_p.K355K|MCM8_ENST00000378883.1_Silent_p.K371K|MCM8_ENST00000378886.2_Silent_p.K371K	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	371					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGAAAACAAAGAGTTCTGAGG	0.343													19	36					0	0	0	0	A	5948561	G	A	5948561	2	1	316	1	0	0	0	0	0	0	0	1	9462	933	33	2		2	MCM8	20	5948561	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08	2737362	5948561	57076959	122	56315											
ATP9A	10079	broad.mit.edu	37	chr20	50225128	50225128	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacatctttgtccaggaccaGagaaaacacaggaaacatgg	16	6	10	9	0	1	1	0	0	1	1	2	5	2	3	2	3	2	0	2	3	3	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr20:50225128G>C	ENST00000338821.5	-	25	2938	c.2674C>G	c.(2674-2676)Ctg>Gtg	p.L892V	ATP9A_ENST00000402822.1_Missense_Mutation_p.L771V|ATP9A_ENST00000311637.5_Missense_Mutation_p.L756V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	892					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCAGGACCAGAGAAAACACA	0.483													10	31					0	0	0	0	C	50225128	G	C	50225128	3	2	316	1	0	0	0	0	1	0	0	0	1202	933	33	2	485	2	ATP9A	20	50225128	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	44276567	50225128	12800392	123	56316											
ITGB2	3689	broad.mit.edu	37	chr21	46320235	46320235	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctggggtggggacttacGaattcgttgctcctcttgta	5	14	13	9	2	1	0	0	0	1	0	3	2	2	1	2	4	3	3	2	4	3	5	rs150327269		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr21:46320235G>A	ENST00000397850.2	-	8	1349	c.897_splice	c.e8+1	p.F299_splice	ITGB2_ENST00000302347.5_Splice_Site_p.F299_splice|ITGB2_ENST00000397854.3_Splice_Site_p.F242_splice|ITGB2_ENST00000397857.1_Splice_Site_p.F299_splice|ITGB2_ENST00000397852.1_Splice_Site_p.F299_splice|ITGB2_ENST00000355153.4_Splice_Site_p.F299_splice			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	299	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGGACTTACGAATTCGTTGC	0.637													7	29					0	0	0	0	A	46320235	G	A	46320235	5	1	316	1	0	0	0	0	0	0	1	0	7947	1072	37	1	1452	1	ITGB2	21	46320235	Splice_Site	SNP	G	TCGA-CV-7425-01A-11D-2078-08		46320235	1809660	124	56317											
TOP3B	8940	broad.mit.edu	37	chr22	22316888	22316888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctccagcatcttcacctCgcccacagggaaggcatcac	9	8	7	17	1	4	0	2	0	2	0	6	1	4	1	3	2	1	2	3	2	1	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr22:22316888C>T	ENST00000398793.2	-	13	1872	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	TOP3B_ENST00000357179.5_Missense_Mutation_p.E480K|TOP3B_ENST00000413067.2_Missense_Mutation_p.E209K	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	480					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		ATCTTCACCTCGCCCACAGGG	0.637													15	32					0	0	0	0	T	22316888	C	T	22316888	3	4	316	1	0	0	0	0	1	0	0	0	16463	893	31	1	1174	1	TOP3B	22	22316888	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08		22316888	28987678	125	56318											
PRAME	23532	broad.mit.edu	37	chr22	22890816	22890816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgggagcagtggctcagGgaaggcaggagggcaaggag	11	3	21	6	0	1	0	1	0	0	0	1	4	1	4	0	7	2	5	0	7	2	0			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr22:22890816G>A	ENST00000543184.1	-	5	2065	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	PRAME_ENST00000398741.1_Silent_p.S401S|PRAME_ENST00000402697.1_Silent_p.S401S|PRAME_ENST00000398743.2_Silent_p.S401S|PRAME_ENST00000424204.2_Silent_p.S385S|PRAME_ENST00000405655.3_Silent_p.S401S|PRAME_ENST00000539862.1_Silent_p.S385S	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	401					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGTGGCTCAGGGAAGGCAGGA	0.572													8	47					0	0	0	0	A	22890816	G	A	22890816	2	1	316	1	0	0	0	0	0	0	0	1	12500	1219	43	4		4	PRAME	22	22890816	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08	573928	22890816	28413750	126	56319											
PRR5-ARHGAP8	553158	broad.mit.edu	37	chr22	45204236	45204236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaacgattataccatcGtctatttccactacgggctg	10	13	8	10	3	1	1	0	1	1	1	3	3	2	1	2	1	3	1	2	1	5	6	rs148849830		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr22:45204236G>A	ENST00000361473.5	+	7	852	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	ARHGAP8_ENST00000517296.3_Intron|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.V73I|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V73I|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V73I|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V195I																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						TTATACCATCGTCTATTTCCA	0.478													10	43					0	0	0	0	A	45204236	G	A	45204236	3	1	316	1	0	0	0	0	1	0	0	0	12680	1145	40	1	609	1	PRR5-ARHGAP8	22	45204236	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	22313420	45204236	6100330	127	56320											
FAM47B	170062	broad.mit.edu	37	chrX	34962243	34962243	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcctaccaagaccggagCgtcccatctaaaagaactgt	13	6	10	12	2	1	2	0	0	1	2	2	4	2	4	4	2	4	0	4	2	5	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:34962243C>A	ENST00000329357.5	+	1	1331	c.1295C>A	c.(1294-1296)gCg>gAg	p.A432E		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	432										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAGACCGGAGCGTCCCATCTA	0.527													21	58					6.44725e-10	7.49153e-10	1	0	A	34962243	C	A	34962243	3	1	316	1	0	0	0	0	1	0	0	0	5617	768	27	3	1297	3	FAM47B	23	34962243	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08		34962243	120308317	128	56321											
SRPX	8406	broad.mit.edu	37	chrX	38009017	38009017	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaccatctcttcttttcTcaagggaaaagtgtcaatca	12	13	7	9	0	5	0	3	0	3	0	7	2	5	2	1	2	0	0	1	2	5	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:38009017T>C	ENST00000378533.3	-	10	1448	c.1342A>G	c.(1342-1344)Aga>Gga	p.R448G	SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000343800.6_Missense_Mutation_p.R435G|SRPX_ENST00000432886.2_Missense_Mutation_p.R389G|SRPX_ENST00000544439.1_Missense_Mutation_p.R428G|SRPX_ENST00000538295.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	448					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TCTTCTTTTCTCAAGGGAAAA	0.478													4	32					0	0	0	0	C	38009017	T	C	38009017	3	2	316	1	0	0	0	0	1	0	0	0	15254	1559	54	5	56	5	SRPX	23	38009017	Missense_Mutation	SNP	T	TCGA-CV-7425-01A-11D-2078-08	3046774	38009017	117261543	129	56322											
DGKK	139189	broad.mit.edu	37	chrX	50213157	50213157	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatggtgctggacttggaCggaactctggagccgcctca	8	8	14	11	2	2	0	1	0	1	0	2	5	2	4	2	5	3	1	2	5	1	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:50213157C>T	ENST00000376025.2	-	0	580							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGGACTTGGACGGAACTCTGG	0.612													3	21					0	0	0	0	T	50213157	C	T	50213157	1	4	316	0	1	0	0	0	0	0	0	0	4509	536	19	1		1	DGKK	23	50213157	RNA	SNP	C	TCGA-CV-7425-01A-11D-2078-08	12204140	50213157	105057403	130	56323											
HUWE1	10075	broad.mit.edu	37	chrX	53613475	53613475	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatctgggctctcctttttGaggagatggctgtcttttca	5	17	10	9	0	5	2	2	1	3	1	6	3	5	2	1	3	0	2	1	3	0	4			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:53613475G>C	ENST00000342160.3	-	38	5256	c.4799C>G	c.(4798-4800)tCa>tGa	p.S1600*	HUWE1_ENST00000218328.8_Nonsense_Mutation_p.S1600*|HUWE1_ENST00000262854.6_Nonsense_Mutation_p.S1600*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1600					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTCCTTTTTGAGGAGATGGC	0.423													3	14					0	0	0	0	C	53613475	G	C	53613475	4	2	316	1	0	0	0	0	0	1	0	0	7514	1294	45	2	8509	2	HUWE1	23	53613475	Nonsense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	3400318	53613475	101657085	131	56324											
HUWE1	10075	broad.mit.edu	37	chrX	53620464	53620464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccagcataagccaggCatctaggaattctcctgtgc	10	9	8	14	0	2	0	0	0	2	0	4	1	3	1	4	2	3	2	4	2	3	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:53620464C>T	ENST00000342160.3	-	31	4058	c.3601G>A	c.(3601-3603)Gcc>Acc	p.A1201T	HUWE1_ENST00000218328.8_Missense_Mutation_p.A1201T|HUWE1_ENST00000262854.6_Missense_Mutation_p.A1201T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1201					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATAAGCCAGGCATCTAGGAAT	0.507													3	27					0	0	0	0	T	53620464	C	T	53620464	3	4	316	1	0	0	0	0	1	0	0	0	7514	710	25	4	9735	4	HUWE1	23	53620464	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	6989	53620464	101650096	132	56325											
USP51	158880	broad.mit.edu	37	chrX	55513554	55513554	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaaggtattaatctttcGcctctgtttgcctacatgct	9	16	7	9	1	2	0	0	0	2	0	3	1	2	0	2	1	3	3	2	1	5	6			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:55513554G>A	ENST00000500968.3	-	2	1901	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	607					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TTAATCTTTCGCCTCTGTTTG	0.443													3	45					0	0	0	0	A	55513554	G	A	55513554	4	1	316	1	0	0	0	0	0	1	0	0	17179	1095	38	1	320	1	USP51	23	55513554	Nonsense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	1893090	55513554	99757006	133	56326											
UPRT	139596	broad.mit.edu	37	chrX	74494381	74494381	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctggcaactccttcctaGaggactgcgaactctcccgg	8	8	10	15	2	1	1	0	0	1	1	4	3	3	2	3	3	4	2	3	3	3	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:74494381G>C	ENST00000373379.1	+	1	457	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000373383.4_Missense_Mutation_p.E98Q			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	98					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CTCCTTCCTAGAGGACTGCGA	0.582													2	18					0	0	0	0	C	74494381	G	C	74494381	3	2	316	1	0	0	0	0	1	0	0	0	17110	943	33	2	294	2	UPRT	23	74494381	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	18980827	74494381	80776179	134	56327											
ZDHHC15	158866	broad.mit.edu	37	chrX	74742782	74742782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcacgacgaggacaataacGagcactggcacccaggacag	15	2	12	12	3	0	0	0	0	0	0	0	5	0	2	1	3	3	3	1	3	2	1			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:74742782G>A	ENST00000541184.1	-	1	555	c.78C>T	c.(76-78)ctC>ctT	p.L26L	ZDHHC15_ENST00000373361.3_Silent_p.L26L|ZDHHC15_ENST00000482827.1_5'UTR|ZDHHC15_ENST00000373367.3_Silent_p.L26L	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	26						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GGACAATAACGAGCACTGGCA	0.587													4	31					0	0	0	0	A	74742782	G	A	74742782	2	1	316	1	0	0	0	0	0	0	0	1	17700	1045	37	1		1	ZDHHC15	23	74742782	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08	248401	74742782	80527778	135	56328											
ATP7A	538	broad.mit.edu	37	chrX	77245124	77245124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatccctgagaaaagcaataGaggctgtatcaccggggcta	14	7	11	9	1	1	2	1	1	0	2	2	3	2	2	2	3	1	4	2	3	7	3			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:77245124G>A	ENST00000341514.6	+	4	1161	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	ATP7A_ENST00000343533.5_Missense_Mutation_p.E336K|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	336	HMA 3.			E -> V (in Ref. 1; AAA35580 and 8; AAA96010).	ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAAAGCAATAGAGGCTGTATC	0.418													78	131					0	0	0	0	A	77245124	G	A	77245124	3	1	316	1	0	0	0	0	1	0	0	0	1194	943	33	2	1016	2	ATP7A	23	77245124	Missense_Mutation	SNP	G	TCGA-CV-7425-01A-11D-2078-08	2502342	77245124	78025436	136	56329											
NXF3	56000	broad.mit.edu	37	chrX	102337277	102337277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctttccacttgtccatctCccctgcagacatcacctgca	7	11	4	19	0	2	1	1	0	1	1	5	1	4	1	6	0	2	2	6	0	0	2			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:102337277C>T	ENST00000395065.3	-	9	897	c.796G>A	c.(796-798)Gag>Aag	p.E266K	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.E177K	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	266						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTGTCCATCTCCCCTGCAGAC	0.542													13	112					0	0	0	0	T	102337277	C	T	102337277	3	4	316	1	0	0	0	0	1	0	0	0	10856	864	30	2	843	2	NXF3	23	102337277	Missense_Mutation	SNP	C	TCGA-CV-7425-01A-11D-2078-08	25092153	102337277	52933283	137	56330											
BCORL1	63035	broad.mit.edu	37	chrX	129149172	129149172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctttgtggaaacccacGgggccggcaaatatttatcc	9	11	9	12	2	1	0	0	0	1	0	3	1	2	1	3	4	1	1	3	4	4	4	rs138691600	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:129149172G>A	ENST00000540052.1	+	3	2468	c.2424G>A	c.(2422-2424)acG>acA	p.T808T	BCORL1_ENST00000303743.5_Silent_p.T808T|BCORL1_ENST00000218147.7_Silent_p.T808T|BCORL1_ENST00000359304.2_Silent_p.T808T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	808					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.T808T(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGAAACCCACGGGGCCGGCAA	0.587													9	71					0	0	0	0	A	129149172	G	A	129149172	2	1	316	1	0	0	0	0	0	0	0	1	1391	1103	39	1		1	BCORL1	23	129149172	Silent	SNP	G	TCGA-CV-7425-01A-11D-2078-08	26811895	129149172	26121388	138	56331											
SLITRK2	84631	broad.mit.edu	37	chrX	144904556	144904556	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctggcgtccttgaacatAttggagggatcatggagatt	9	13	13	6	1	1	2	1	1	0	1	2	5	2	4	1	4	2	1	1	4	2	5			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:144904556A>T	ENST00000370490.1	+	1	4868	c.613A>T	c.(613-615)Att>Ttt	p.I205F	SLITRK2_ENST00000428560.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.I205F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	205						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTGAACATATTGGAGGGAT	0.473													19	128					0	0	0	0	T	144904556	A	T	144904556	3	4	316	1	0	0	0	0	1	0	0	0	14831	449	16	5	615	5	SLITRK2	23	144904556	Missense_Mutation	SNP	A	TCGA-CV-7425-01A-11D-2078-08	15755384	144904556	10366004	139	56332											
GABRE	2564	broad.mit.edu	37	chrX	151138747	151138752	+	In_Frame_Del	DEL	CAGTCT	CAGTCT	-																															cagtttgccaactctgctccCagtctcagtctcagttgact																										TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:151138747_151138752delCAGTCT	ENST00000370325.1	-	2	232_237	c.179_184delAGACTG	c.(178-186)ggg>g	p.ETG60del	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_In_Frame_Del_p.ETG60del			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	60					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCTGCTCCCAGTCTCAGTCTCAGT	0.519													38	138	---	---	---	---					-	151138752	CAGTCT	-	151138747	7	5	316	1	0	1	0	1	0	0	0	0	6218	594	21	0	1368	0	GABRE	23	151138747	In_Frame_Del	DEL	CAGTCT	TCGA-CV-7425-01A-11D-2078-08	6234191	151138747	4131813	140	56333											
TNFRSF4	7293	broad.mit.edu	37	chr1	1147457	1147457	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggggggtccctgtcctCacagattgcgtccgagctat	5	10	14	12	2	1	1	1	0	0	1	4	2	4	1	3	4	2	2	3	4	1	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:1147457C>A	ENST00000379236.3	-	5	503	c.499G>T	c.(499-501)Gag>Tag	p.E167*	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	167					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCCTGTCCTCACAGATTGCG	0.662													6	18					0.00198382	0.00202396	1	0	A	1147457	C	A	1147457	4	1	317	1	0	0	0	0	0	1	0	0	16391	835	29	2	346	2	TNFRSF4	1	1147457	Nonsense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08		1147457	248103164	1	56334											
CCDC27	148870	broad.mit.edu	37	chr1	3679939	3679939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccctggccgagtcgtttGaggaggagctgctggcccag	5	8	15	13	2	0	1	0	1	0	0	2	4	1	3	4	4	2	3	4	4	0	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:3679939G>A	ENST00000294600.2	+	7	1306	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	408	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CGAGTCGTTTGAGGAGGAGCT	0.612													4	26					0	0	0	0	A	3679939	G	A	3679939	3	1	317	1	0	0	0	0	1	0	0	0	2827	1291	45	2	1248	2	CCDC27	1	3679939	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2532482	3679939	245570682	2	56335											
CLSTN1	22883	broad.mit.edu	37	chr1	9795145	9795145	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaaaatggtggacgccactCaggctgatcttgggctcctc	8	9	12	12	1	2	1	1	1	1	0	4	2	3	2	2	4	0	3	2	4	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:9795145C>G	ENST00000377298.4	-	14	2763	c.1971G>C	c.(1969-1971)ctG>ctC	p.L657L	CLSTN1_ENST00000361311.4_Silent_p.L647L|CLSTN1_ENST00000377288.3_Silent_p.L638L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	657					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GGACGCCACTCAGGCTGATCT	0.542													29	112					0	0	0	0	G	9795145	C	G	9795145	2	3	317	1	0	0	0	0	0	0	0	1	3591	813	29	2		2	CLSTN1	1	9795145	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	6115206	9795145	239455476	3	56336											
TARDBP	23435	broad.mit.edu	37	chr1	11077026	11077026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaccgaacaggacctgaaaGagtattttagtacctttgga	14	10	9	8	1	0	2	0	1	0	1	0	5	0	4	3	2	3	2	3	2	6	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:11077026G>A	ENST00000240185.3	+	3	478	c.364G>A	c.(364-366)Gag>Aag	p.E122K	TARDBP_ENST00000439080.2_Intron|TARDBP_ENST00000315091.3_Missense_Mutation_p.E122K	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	122	RRM 1.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GGACCTGAAAGAGTATTTTAG	0.383													21	78					0	0	0	0	A	11077026	G	A	11077026	3	1	317	1	0	0	0	0	1	0	0	0	15648	943	33	2	370	2	TARDBP	1	11077026	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1281881	11077026	238173595	4	56337											
C1orf158	93190	broad.mit.edu	37	chr1	12819396	12819396	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagttgctgtggctgccaGagaagtctgactttcccctt	8	12	11	10	0	1	3	0	1	1	2	2	4	2	3	3	1	2	3	3	1	2	3	rs148059585		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:12819396G>C	ENST00000288048.5	+	3	595	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	C1orf158_ENST00000376210.3_Missense_Mutation_p.E89Q	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	127										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGCTGCCAGAGAAGTCTGA	0.522													13	50					0	0	0	0	C	12819396	G	C	12819396	3	2	317	1	0	0	0	0	1	0	0	0	2026	943	33	2	389	2	C1orf158	1	12819396	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1742370	12819396	236431225	5	56338											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837643	12837643	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcccaagattattgtgttCagcactgtcccctgccctcg	7	11	8	15	1	1	1	1	0	0	1	3	1	2	1	4	0	3	2	4	0	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:12837643C>T	ENST00000357726.4	+	3	1380	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	451										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTATTGTGTTCAGCACTGTCC	0.527													25	73					0	0	0	0	T	12837643	C	T	12837643	2	4	317	1	0	0	0	0	0	0	0	1	12504	825	29	2		2	PRAMEF12	1	12837643	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	18247	12837643	236412978	6	56339											
AGMAT	79814	broad.mit.edu	37	chr1	15904338	15904338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgacttcatccagcagtcttCagccaggactacccggaagc	10	7	9	15	2	3	0	2	0	1	0	4	3	4	2	3	2	4	1	3	2	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:15904338C>T	ENST00000375826.3	-	5	884	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	248					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCAGTCTTCAGCCAGGACT	0.537													7	19					0	0	0	0	T	15904338	C	T	15904338	3	4	317	1	0	0	0	0	1	0	0	0	385	835	29	2	328	2	AGMAT	1	15904338	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	3066695	15904338	233346283	7	56340											
UBR4	23352	broad.mit.edu	37	chr1	19478158	19478158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaggttcagcttcttatCagcctgcagggcttcttctc	7	13	10	11	0	5	1	2	0	3	1	6	2	5	1	1	2	3	4	1	2	2	5	rs55848569		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:19478158C>T	ENST00000375267.2	-	48	7195	c.7192G>A	c.(7192-7194)Gat>Aat	p.D2398N	UBR4_ENST00000375254.3_Missense_Mutation_p.D2398N|UBR4_ENST00000375217.2_Missense_Mutation_p.D2398N|UBR4_ENST00000375226.2_Missense_Mutation_p.D2398N			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2398					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGCTTCTTATCAGCCTGCAGG	0.537													21	54					0	0	0	0	T	19478158	C	T	19478158	3	4	317	1	0	0	0	0	1	0	0	0	17000	826	29	2	8595	2	UBR4	1	19478158	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	3573820	19478158	229772463	8	56341											
PLA2G2F	64600	broad.mit.edu	37	chr1	20474786	20474786	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgagaggagtaccgtggcttCctcaatgtctactgccaggg	8	9	13	11	2	2	1	1	0	1	1	3	3	3	2	3	3	3	2	3	3	3	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:20474786C>T	ENST00000375102.3	+	5	630	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	133					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		ACCGTGGCTTCCTCAATGTCT	0.582													8	44					0	0	0	0	T	20474786	C	T	20474786	2	4	317	1	0	0	0	0	0	0	0	1	12071	854	30	2		2	PLA2G2F	1	20474786	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	996628	20474786	228775835	9	56342											
WNT4	54361	broad.mit.edu	37	chr1	22456196	22456196	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaactggtactggcactcctCaatggccagctgggcaccgc	8	7	12	14	1	1	0	1	0	0	0	2	1	2	0	3	4	3	4	3	4	3	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:22456196C>G	ENST00000290167.6	-	2	269	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	WNT4_ENST00000542383.1_Missense_Mutation_p.E21Q	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	76					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TGGCACTCCTCAATGGCCAGC	0.627													14	40					0	0	0	0	G	22456196	C	G	22456196	3	3	317	1	0	0	0	0	1	0	0	0	17486	835	29	2	845	2	WNT4	1	22456196	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1981410	22456196	226794425	10	56343											
FGR	2268	broad.mit.edu	37	chr1	27942093	27942093	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcccggcttcagcgtcttCaccgccaccttagtgctgcc	4	10	10	17	3	3	0	2	0	1	0	3	0	3	0	5	1	4	2	5	1	1	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:27942093C>T	ENST00000374005.3	-	9	1158	c.870G>A	c.(868-870)gtG>gtA	p.V290V	FGR_ENST00000545953.1_Silent_p.V224V|FGR_ENST00000399173.1_Silent_p.V290V|FGR_ENST00000374004.1_Silent_p.V290V	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	290	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGCGTCTTCACCGCCACCT	0.682													8	23					0	0	0	0	T	27942093	C	T	27942093	2	4	317	1	0	0	0	0	0	0	0	1	5919	813	29	2		2	FGR	1	27942093	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	5485897	27942093	221308528	11	56344											
PHACTR4	65979	broad.mit.edu	37	chr1	28793131	28793131	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagactgttaatctctctgtCaccccttccccagcacccag	9	10	5	17	0	3	1	1	0	2	1	5	1	4	1	5	0	1	2	5	0	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:28793131C>T	ENST00000373839.3	+	6	936	c.675C>T	c.(673-675)gtC>gtT	p.V225V	PHACTR4_ENST00000373836.3_Silent_p.V235V|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	225							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCTCTGTCACCCCTTCCC	0.597													11	36					0	0	0	0	T	28793131	C	T	28793131	2	4	317	1	0	0	0	0	0	0	0	1	11884	813	29	2		2	PHACTR4	1	28793131	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	851038	28793131	220457490	12	56345											
KPNA6	23633	broad.mit.edu	37	chr1	32632895	32632895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggaacccctgagcagatCaggtattacattcctttccc	10	10	9	12	0	1	2	1	1	0	1	3	4	3	4	4	3	3	2	4	3	3	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:32632895C>G	ENST00000373625.3	+	12	1335	c.1242C>G	c.(1240-1242)atC>atG	p.I414M	KPNA6_ENST00000537234.1_Missense_Mutation_p.I411M|KPNA6_ENST00000545542.1_Missense_Mutation_p.I419M	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	414					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTGAGCAGATCAGGTATTACA	0.473													22	79					0	0	0	0	G	32632895	C	G	32632895	3	3	317	1	0	0	0	0	1	0	0	0	8486	816	29	2	1288	2	KPNA6	1	32632895	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	3839764	32632895	216617726	13	56346											
YARS	8565	broad.mit.edu	37	chr1	33263435	33263435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctacttttaaatactcttCatccaaagcctgtggaaaga	14	13	5	9	0	3	1	1	0	2	1	4	2	4	2	2	1	3	0	2	1	6	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:33263435C>T	ENST00000373477.4	-	5	1428	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	174					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AAATACTCTTCATCCAAAGCC	0.423													13	31					0	0	0	0	T	33263435	C	T	33263435	3	4	317	1	0	0	0	0	1	0	0	0	17563	835	29	2	1102	2	YARS	1	33263435	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	630540	33263435	215987186	14	56347											
ZC3H12A	80149	broad.mit.edu	37	chr1	37941518	37941518	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acctgagaccagtggtcatcGatgggagcaacgtggccatg	10	7	14	10	2	1	1	1	1	0	1	2	4	1	2	3	3	2	1	3	3	1	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:37941518G>C	ENST00000373087.6	+	2	537	c.421G>C	c.(421-423)Gat>Cat	p.D141H		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	141					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGGTCATCGATGGGAGCAA	0.592													5	8					0	0	0	0	C	37941518	G	C	37941518	3	2	317	1	0	0	0	0	1	0	0	0	17656	1058	37	3	423	3	ZC3H12A	1	37941518	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4678083	37941518	211309103	15	56348											
GNL2	29889	broad.mit.edu	37	chr1	38040301	38040301	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtccggaaagcgagcttctCaagaaagtcctcagcattct	12	9	9	11	2	3	1	2	0	2	1	6	3	5	2	2	1	3	2	2	1	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:38040301C>G	ENST00000373062.3	-	11	1365	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	423					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GCGAGCTTCTCAAGAAAGTCC	0.428													18	28					0	0	0	0	G	38040301	C	G	38040301	3	3	317	1	0	0	0	0	1	0	0	0	6587	835	29	2	952	2	GNL2	1	38040301	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	98783	38040301	211210320	16	56349											
MTF1	4520	broad.mit.edu	37	chr1	38323027	38323027	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttattgtcaaatgaatctGatctggtgagataatgtgct	11	16	10	4	0	3	3	1	3	2	1	3	4	3	3	0	1	1	2	0	1	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:38323027G>C	ENST00000373036.4	-	2	444	c.304C>G	c.(304-306)Cag>Gag	p.Q102E	MTF1_ENST00000468190.1_5'UTR	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	102						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAATGAATCTGATCTGGTGAG	0.453													19	63					0	0	0	0	C	38323027	G	C	38323027	3	2	317	1	0	0	0	0	1	0	0	0	9992	1299	45	2	1997	2	MTF1	1	38323027	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	282726	38323027	210927594	17	56350											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43630388	43630388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggaagctagatacatcatCatagctctcccgagtgttcc	10	10	8	13	2	3	1	2	0	1	1	5	3	4	2	3	1	3	3	3	1	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:43630388C>T	ENST00000431635.2	-	9	1109	c.961G>A	c.(961-963)Gat>Aat	p.D321N	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.D266N	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	266					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATACATCATCATAGCTCTCC	0.502													13	57					0	0	0	0	T	43630388	C	T	43630388	3	4	317	1	0	0	0	0	1	0	0	0	4921	826	29	2	132	2	EBNA1BP2	1	43630388	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	5307361	43630388	205620233	18	56351											
PTPRF	5792	broad.mit.edu	37	chr1	44069508	44069508	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttccggcttgctgccaaGaaccgggctggcttgggtga	6	10	14	11	2	1	2	0	1	1	1	2	2	2	2	3	4	3	4	3	4	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:44069508G>A	ENST00000359947.4	+	16	3025	c.2685G>A	c.(2683-2685)aaG>aaA	p.K895K	PTPRF_ENST00000438120.1_Silent_p.K886K|PTPRF_ENST00000372413.3_Silent_p.K886K|PTPRF_ENST00000372414.3_Silent_p.K895K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.K243K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	895	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGCTGCCAAGAACCGGGCTG	0.607													11	26					0	0	0	0	A	44069508	G	A	44069508	2	1	317	1	0	0	0	0	0	0	0	1	12883	933	33	2		2	PTPRF	1	44069508	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	439120	44069508	205181113	19	56352			1	85		3	3	224	G		6.237777e-06
PTPRF	5792	broad.mit.edu	37	chr1	44069632	44069632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaccacagaactggcctggGacccgccagtgctggcggag	8	5	14	14	2	0	1	0	0	0	1	0	3	0	3	4	4	3	1	4	4	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:44069632G>T	ENST00000359947.4	+	16	3149	c.2809G>T	c.(2809-2811)Gac>Tac	p.D937Y	PTPRF_ENST00000438120.1_Missense_Mutation_p.D928Y|PTPRF_ENST00000372413.3_Missense_Mutation_p.D928Y|PTPRF_ENST00000372414.3_Missense_Mutation_p.D937Y|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.D285Y	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	937	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACTGGCCTGGGACCCGCCAGT	0.602													9	21					1.12685e-05	1.17542e-05	1	0	T	44069632	G	T	44069632	3	4	317	1	0	0	0	0	1	0	0	0	12883	1174	41	2	2863	2	PTPRF	1	44069632	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	124	44069632	205180989	20	56353			1	85		3	3	224	G		6.237777e-06
PTPRF	5792	broad.mit.edu	37	chr1	44069731	44069731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgcagaacatcacgacaGacacccgctttacccttact	12	8	6	15	2	1	2	1	0	0	2	1	3	1	2	2	0	5	3	2	0	3	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:44069731G>C	ENST00000359947.4	+	16	3248	c.2908G>C	c.(2908-2910)Gac>Cac	p.D970H	PTPRF_ENST00000438120.1_Missense_Mutation_p.D961H|PTPRF_ENST00000372413.3_Missense_Mutation_p.D961H|PTPRF_ENST00000372414.3_Missense_Mutation_p.D970H|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.D318H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	970	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATCACGACAGACACCCGCTT	0.597													20	59					0	0	0	0	C	44069731	G	C	44069731	3	2	317	1	0	0	0	0	1	0	0	0	12883	942	33	2	2962	2	PTPRF	1	44069731	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	99	44069731	205180890	21	56354			1	85		3	3	224	G		6.237777e-06
B4GALT2	8704	broad.mit.edu	37	chr1	44456097	44456097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtggacattgggcggcctCcgtcgtggccccctcggggc	3	7	16	15	4	0	0	0	0	0	0	3	1	1	1	4	6	0	0	4	6	0	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:44456097C>T	ENST00000356836.6	+	7	1886	c.1096C>T	c.(1096-1098)Ccg>Tcg	p.P366S	B4GALT2_ENST00000434555.2_Missense_Mutation_p.P300S|B4GALT2_ENST00000309519.7_Missense_Mutation_p.P395S|B4GALT2_ENST00000372324.1_Missense_Mutation_p.P366S	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	366					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TGGGCGGCCTCCGTCGTGGCC	0.617													26	99					0	0	0	0	T	44456097	C	T	44456097	3	4	317	1	0	0	0	0	1	0	0	0	1275	855	30	2	1118	2	B4GALT2	1	44456097	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	386366	44456097	204794524	22	56355											
B4GALT2	8704	broad.mit.edu	37	chr1	44456112	44456112	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccgtcgtggccccctCggggctgacactaatggaca	6	7	13	15	3	0	1	0	1	0	0	3	2	1	2	4	5	0	1	4	5	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:44456112C>A	ENST00000356836.6	+	7	1901	c.1111C>A	c.(1111-1113)Cgg>Agg	p.R371R	B4GALT2_ENST00000434555.2_Silent_p.R305R|B4GALT2_ENST00000309519.7_Silent_p.R400R|B4GALT2_ENST00000372324.1_Silent_p.R371R	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	371					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GTGGCCCCCTCGGGGCTGACA	0.622													16	81					0.000566183	0.000582552	1	0	A	44456112	C	A	44456112	2	1	317	1	0	0	0	0	0	0	0	1	1275	875	31	3		3	B4GALT2	1	44456112	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	15	44456112	204794509	23	56356											
LRRC42	115353	broad.mit.edu	37	chr1	54426051	54426051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taactcagctccacctgaagGataattgtttatctgatgct	11	14	7	9	0	2	2	1	2	1	0	3	3	3	3	2	1	3	3	2	1	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:54426051G>A	ENST00000371370.3	+	5	1149	c.628G>A	c.(628-630)Gat>Aat	p.D210N	LRRC42_ENST00000319223.4_Missense_Mutation_p.D210N	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	210										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CCACCTGAAGGATAATTGTTT	0.373													32	62					0	0	0	0	A	54426051	G	A	54426051	3	1	317	1	0	0	0	0	1	0	0	0	9064	1174	41	2	638	2	LRRC42	1	54426051	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	9969939	54426051	194824570	24	56357											
HOOK1	51361	broad.mit.edu	37	chr1	60334000	60334000	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagcagttggcagagaaaGagagaagaattgagattctg	17	7	14	3	0	1	5	0	1	1	5	1	9	1	5	0	1	1	3	0	1	4	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:60334000G>C	ENST00000371208.3	+	20	2181	c.1924G>C	c.(1924-1926)Gag>Cag	p.E642Q	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.E600Q	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	642					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GGCAGAGAAAGAGAGAAGAAT	0.303													11	37					0	0	0	0	C	60334000	G	C	60334000	3	2	317	1	0	0	0	0	1	0	0	0	7332	943	33	2	2002	2	HOOK1	1	60334000	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	5907949	60334000	188916621	25	56358											
KANK4	163782	broad.mit.edu	37	chr1	62703988	62703988	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgctccgcgtgggctctCagaagcccagcaatttccat	7	9	9	16	2	1	1	1	0	1	1	4	1	3	1	4	1	3	3	4	1	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:62703988C>T	ENST00000371153.4	-	10	3327	c.2949G>A	c.(2947-2949)ctG>ctA	p.L983L	KANK4_ENST00000354381.3_Silent_p.L355L|KANK4_ENST00000371150.1_Silent_p.L339L|KANK4_ENST00000317477.4_Silent_p.L121L	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	983										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CGTGGGCTCTCAGAAGCCCAG	0.557													7	29					0	0	0	0	T	62703988	C	T	62703988	2	4	317	1	0	0	0	0	0	0	0	1	8032	813	29	2		2	KANK4	1	62703988	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2369988	62703988	186546633	26	56359											
TCTEX1D1	200132	broad.mit.edu	37	chr1	67236139	67236139	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctctcgccttacagttcaGatggaaaacacctatcagtt	12	12	6	11	1	3	1	2	0	1	1	5	2	3	2	2	1	2	2	2	1	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:67236139G>A	ENST00000282670.2	+	3	317	c.189G>A	c.(187-189)caG>caA	p.Q63Q	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	63										large_intestine(2)|lung(10)|skin(1)	13						TTACAGTTCAGATGGAAAACA	0.348													33	105					0	0	0	0	A	67236139	G	A	67236139	2	1	317	1	0	0	0	0	0	0	0	1	15813	933	33	2		2	TCTEX1D1	1	67236139	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4532151	67236139	182014482	27	56360											
C1orf173	127254	broad.mit.edu	37	chr1	75055435	75055435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatgtttcccggacttctCagataaaccctctgcaatct	11	12	5	13	1	3	1	1	0	3	1	5	2	4	2	2	1	3	2	2	1	4	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:75055435C>T	ENST00000326665.5	-	12	2274	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.E489K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	686	Glu-rich.									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						CCGGACTTCTCAGATAAACCC	0.443													16	102					0	0	0	0	T	75055435	C	T	75055435	3	4	317	1	0	0	0	0	1	0	0	0	2033	835	29	2	2548	2	C1orf173	1	75055435	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	7819296	75055435	174195186	28	56361											
COL24A1	255631	broad.mit.edu	37	chr1	86289244	86289244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcctctctctccttttagtCcttgttcaccctggtcacct	4	17	4	16	0	4	0	2	0	2	0	8	0	6	0	5	1	0	1	5	1	1	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:86289244C>T	ENST00000370571.2	-	45	4130	c.3764G>A	c.(3763-3765)gGa>gAa	p.G1255E	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1255E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1255	Collagen-like 14.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCTTTTAGTCCTTGTTCACC	0.338													21	60					0	0	0	0	T	86289244	C	T	86289244	3	4	317	1	0	0	0	0	1	0	0	0	3713	855	30	2	1444	2	COL24A1	1	86289244	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	11233809	86289244	162961377	29	56362											
CLCA1	1179	broad.mit.edu	37	chr1	86939133	86939133	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcatctctgtatctgcttGaagctacaggaaagcgattt	11	12	10	8	1	2	1	0	1	2	0	3	3	2	2	0	2	4	4	0	2	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:86939133G>C	ENST00000234701.3	+	3	547	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	CLCA1_ENST00000394711.1_Missense_Mutation_p.E66Q			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	66					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GTATCTGCTTGAAGCTACAGG	0.358													7	44					0	0	0	0	C	86939133	G	C	86939133	3	2	317	1	0	0	0	0	1	0	0	0	3487	1291	45	2	202	2	CLCA1	1	86939133	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	649889	86939133	162311488	30	56363											
GBP3	2635	broad.mit.edu	37	chr1	89486310	89486310	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacaggctgtgtaatggcaGacaggattttcagagcttct	10	11	11	9	0	2	2	1	0	1	2	2	3	2	3	1	3	1	4	1	3	1	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:89486310G>C	ENST00000370481.4	-	2	315	c.95C>G	c.(94-96)tCt>tGt	p.S32C	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	32						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TGTAATGGCAGACAGGATTTT	0.517													26	78					0	0	0	0	C	89486310	G	C	89486310	3	2	317	1	0	0	0	0	1	0	0	0	6324	942	33	2	1732	2	GBP3	1	89486310	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2547177	89486310	159764311	31	56364											
BCAR3	8412	broad.mit.edu	37	chr1	94037340	94037340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagagtggccgctcggtcctCcaaagtgcccgtgcatccca	7	7	11	16	3	0	1	0	0	0	1	4	1	3	1	5	2	2	2	5	2	1	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:94037340C>T	ENST00000370244.1	-	11	2149	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	BCAR3_ENST00000539242.1_Missense_Mutation_p.E297K|BCAR3_ENST00000370247.3_Missense_Mutation_p.E530K|BCAR3_ENST00000370243.1_Missense_Mutation_p.E621K|BCAR3_ENST00000260502.6_Missense_Mutation_p.E621K	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	621	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GCTCGGTCCTCCAAAGTGCCC	0.557													6	90					0	0	0	0	T	94037340	C	T	94037340	3	4	317	1	0	0	0	0	1	0	0	0	1353	864	30	2	632	2	BCAR3	1	94037340	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	4551030	94037340	155213281	32	56365											
EXTL2	2135	broad.mit.edu	37	chr1	101339776	101339776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatcacagttttgagtatCatctatcaaagcatggacag	14	12	7	8	0	5	1	4	1	1	0	5	2	5	2	0	1	1	3	0	1	3	4	rs142198700		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:101339776C>T	ENST00000370114.3	-	5	2151	c.715G>A	c.(715-717)Gat>Aat	p.D239N	EXTL2_ENST00000370113.3_Missense_Mutation_p.D239N|EXTL2_ENST00000535414.1_Missense_Mutation_p.D226N	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	239					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTTGAGTATCATCTATCAAA	0.383													7	14					0	0	0	0	T	101339776	C	T	101339776	3	4	317	1	0	0	0	0	1	0	0	0	5364	826	29	2	281	2	EXTL2	1	101339776	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	7302436	101339776	147910845	33	56366											
CSDE1	7812	broad.mit.edu	37	chr1	115282405	115282405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacactgaataaatccgtaaGaggttaacagtttttcaata	17	12	6	6	1	1	2	1	1	0	1	2	2	2	2	1	1	2	3	1	1	8	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:115282405G>T	ENST00000438362.2	-	3	623	c.245C>A	c.(244-246)tCt>tAt	p.S82Y	CSDE1_ENST00000369530.1_Missense_Mutation_p.S82Y|CSDE1_ENST00000261443.5_Missense_Mutation_p.S36Y|CSDE1_ENST00000339438.6_Missense_Mutation_p.S36Y|CSDE1_ENST00000534699.1_Missense_Mutation_p.S36Y|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000358528.4_Missense_Mutation_p.S36Y	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	36	CSD 1.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		AAATCCGTAAGAGGTTAACAG	0.408													96	258					3.71036e-49	4.03735e-49	1	0	T	115282405	G	T	115282405	3	4	317	1	0	0	0	0	1	0	0	0	3961	942	33	2	2361	2	CSDE1	1	115282405	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	13942629	115282405	133968216	34	56367											
NOTCH2	4853	broad.mit.edu	37	chr1	120480487	120480487	+	Frame_Shift_Del	DEL	G	G	-																															gagcaaagcttacctctcctGgaggctgctatgtcacaaga																										TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:120480487delG	ENST00000256646.2	-	20	3549	c.3330delC	c.(3328-3330)tcfs	p.S1110fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1110	EGF-like 29.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		TACCTCTCCTGGAGGCTGCTA	0.483			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				14	43	---	---	---	---					-	120480487	G	-	120480487	7	5	317	1	0	1	0	1	0	0	0	0	10618	1335	47	0	4145	0	NOTCH2	1	120480487	Frame_Shift_Del	DEL	G	TCGA-CV-7427-01A-11D-2078-08	5198082	120480487	128770134	35	56368											
CA14	23632	broad.mit.edu	37	chr1	150233959	150233959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtgtgacatttgaccctGatttgcctgctctgcagccc	7	12	9	13	0	1	3	0	3	1	0	1	3	1	3	3	0	4	2	3	0	0	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:150233959G>A	ENST00000369111.4	+	3	1148	c.178G>A	c.(178-180)Gat>Aat	p.D60N		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	60						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATTTGACCCTGATTTGCCTGC	0.552													14	36					0	0	0	0	A	150233959	G	A	150233959	3	1	317	1	0	0	0	0	1	0	0	0	2540	1290	45	2	188	2	CA14	1	150233959	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	29753472	150233959	99016662	36	56369											
SETDB1	9869	broad.mit.edu	37	chr1	150923439	150923439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcccctatcctgtgtcaatGagattgacacaacccctcca	10	11	5	15	0	1	2	1	2	0	1	4	3	4	2	6	0	1	0	6	0	3	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:150923439G>A	ENST00000271640.5	+	13	2276	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.E696K	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTGTCAATGAGATTGACAC	0.468													16	52					0	0	0	0	A	150923439	G	A	150923439	3	1	317	1	0	0	0	0	1	0	0	0	14225	1291	45	2	2132	2	SETDB1	1	150923439	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	689480	150923439	98327182	37	56370											
SNX27	81609	broad.mit.edu	37	chr1	151630850	151630850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtggccattttcattatCagaacaacaattagatgccc	14	11	7	9	0	2	2	2	0	0	2	2	3	2	2	2	1	3	0	2	1	6	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:151630850C>T	ENST00000368843.3	+	3	803	c.683C>T	c.(682-684)tCa>tTa	p.S228L	SNX27_ENST00000368838.1_Missense_Mutation_p.S135L|SNX27_ENST00000458013.2_Missense_Mutation_p.S228L	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	228	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTTCATTATCAGAACAACAA	0.433													18	124					0	0	0	0	T	151630850	C	T	151630850	3	4	317	1	0	0	0	0	1	0	0	0	14985	838	29	2	693	2	SNX27	1	151630850	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	707411	151630850	97619771	38	56371											
HRNR	388697	broad.mit.edu	37	chr1	152191644	152191644	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccctgtcctgagccagactCgtgttgcccaaaaccagaag	10	7	10	14	1	0	3	0	1	0	2	2	3	1	3	5	0	3	1	5	0	3	1	rs141963410		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:152191644C>G	ENST00000368801.2	-	3	2536	c.2461G>C	c.(2461-2463)Gag>Cag	p.E821Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	821					keratinization		calcium ion binding|protein binding	p.E821*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGACTCGTGTTGCCCA	0.567													11	45					0	0	0	0	G	152191644	C	G	152191644	3	3	317	1	0	0	0	0	1	0	0	0	7409	893	31	3	6095	3	HRNR	1	152191644	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	560794	152191644	97058977	39	56372											
S100A2	6273	broad.mit.edu	37	chr1	153536239	153536239	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgggcagctccttgtgcaGaagttccttcatttccccct	5	13	9	14	0	1	1	1	0	0	1	4	1	4	1	4	1	2	5	4	1	1	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:153536239G>C	ENST00000368708.3	-	2	484	c.112C>G	c.(112-114)Ctg>Gtg	p.L38V	S100A2_ENST00000368707.4_Missense_Mutation_p.L38V|S100A2_ENST00000368709.1_Missense_Mutation_p.L38V|S100A2_ENST00000368710.1_Missense_Mutation_p.L38V|S100A2_ENST00000497140.1_Missense_Mutation_p.L5V|S100A2_ENST00000487430.2_Missense_Mutation_p.L38V	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	39	EF-hand 1.				endothelial cell migration		calcium ion binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCTTGTGCAGAAGTTCCTTC	0.582													16	43					0	0	0	0	C	153536239	G	C	153536239	3	2	317	1	0	0	0	0	1	0	0	0	13863	933	33	2	189	2	S100A2	1	153536239	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1344595	153536239	95714382	40	56373											
ADAM15	8751	broad.mit.edu	37	chr1	155030888	155030888	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcccagcccctcctgactCtgcctggcacagcctgtggc	4	8	11	18	0	1	1	0	1	1	0	2	1	2	1	6	3	3	1	6	3	0	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:155030888C>T	ENST00000356955.2	+	15	1989	c.1888C>T	c.(1888-1890)Ctg>Ttg	p.L630L	ADAM15_ENST00000360674.4_Silent_p.L630L|ADAM15_ENST00000355956.2_Silent_p.L630L|ADAM15_ENST00000368410.2_Silent_p.L336L|ADAM15_ENST00000368413.1_Silent_p.L336L|ADAM15_ENST00000449910.2_Silent_p.L630L|ADAM15_ENST00000447332.3_Silent_p.L614L|ADAM15_ENST00000531455.1_Silent_p.L640L|ADAM15_ENST00000359280.4_Silent_p.L630L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000271836.6_Silent_p.L630L|ADAM15_ENST00000368412.3_Silent_p.L630L	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	630	Cys-rich.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTCCTGACTCTGCCTGGCAC	0.597													8	24					0	0	0	0	T	155030888	C	T	155030888	2	4	317	1	0	0	0	0	0	0	0	1	237	912	32	2		2	ADAM15	1	155030888	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1494649	155030888	94219733	41	56374											
CD1E	913	broad.mit.edu	37	chr1	158324275	158324275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggcacacagtgagggctCaggatggctgggtgacctgc	7	7	17	10	0	1	2	1	2	0	0	1	3	1	3	1	5	1	3	1	5	0	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:158324275C>T	ENST00000368160.3	+	2	167	c.167C>T	c.(166-168)tCa>tTa	p.S56L	CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.S56L|CD1E_ENST00000368156.1_Missense_Mutation_p.S56L|CD1E_ENST00000368163.3_Missense_Mutation_p.S56L|CD1E_ENST00000368155.3_Missense_Mutation_p.S56L|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.S56L|CD1E_ENST00000434258.1_Missense_Mutation_p.S54L|CD1E_ENST00000368161.3_Missense_Mutation_p.S56L|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000444681.2_Intron	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	56					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGTGAGGGCTCAGGATGGCTG	0.567													19	52					0	0	0	0	T	158324275	C	T	158324275	3	4	317	1	0	0	0	0	1	0	0	0	3007	838	29	2	173	2	CD1E	1	158324275	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	3293387	158324275	90926346	42	56375											
SPTA1	6708	broad.mit.edu	37	chr1	158641186	158641186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaaagtcttcatgcttctGaagaagggcttctgcactgc	9	12	9	11	0	5	2	2	1	3	1	5	2	5	2	0	1	3	3	0	1	3	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:158641186G>A	ENST00000368148.3	-	12	1726	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.Q516*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	516					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q516K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATGCTTCTGAAGAAGGGCT	0.488													9	36					0	0	0	0	A	158641186	G	A	158641186	4	1	317	1	0	0	0	0	0	1	0	0	15206	1299	45	2	5877	2	SPTA1	1	158641186	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	316911	158641186	90609435	43	56376											
COPA	1314	broad.mit.edu	37	chr1	160281696	160281696	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctacatctttggagctgttGaaatccagctgtcgtaagaa	11	12	10	8	1	1	2	0	1	1	1	3	3	2	3	1	1	3	5	1	1	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:160281696G>A	ENST00000241704.7	-	11	1267	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	COPA_ENST00000368069.3_Silent_p.F346F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	346					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGAGCTGTTGAAATCCAGCT	0.473													6	28					0	0	0	0	A	160281696	G	A	160281696	2	1	317	1	0	0	0	0	0	0	0	1	3757	1281	45	2		2	COPA	1	160281696	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1640510	160281696	88968925	44	56377											
CD84	8832	broad.mit.edu	37	chr1	160535406	160535406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtgttacataagcaacaGatgttttagaagtccaagca	14	11	9	7	0	0	2	0	0	0	2	1	2	1	2	1	1	4	4	1	1	6	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:160535406G>A	ENST00000368054.3	-	2	211	c.176C>T	c.(175-177)tCt>tTt	p.S59F	RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000311224.4_Missense_Mutation_p.S59F|CD84_ENST00000368051.3_Missense_Mutation_p.S59F|CD84_ENST00000534968.1_Intron|CD84_ENST00000368048.3_Missense_Mutation_p.S59F|CD84_ENST00000368047.3_5'UTR	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	59					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATAAGCAACAGATGTTTTAGA	0.423													36	111					0	0	0	0	A	160535406	G	A	160535406	3	1	317	1	0	0	0	0	1	0	0	0	3071	942	33	2	889	2	CD84	1	160535406	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	253710	160535406	88715215	45	56378											
TNR	7143	broad.mit.edu	37	chr1	175299264	175299264	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaggtttctgctgtcctCgacagagaacctgtcgtagg	8	11	12	10	2	1	1	0	0	1	1	4	3	2	1	2	2	3	4	2	2	3	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:175299264C>A	ENST00000367674.1	-	21	4447	c.3739G>T	c.(3739-3741)Gag>Tag	p.E1247*	TNR_ENST00000263525.2_Nonsense_Mutation_p.E1247*|RP3-518E13.2_ENST00000569593.1_RNA	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1247	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E1247K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGCTGTCCTCGACAGAGAAC	0.587													13	32					4.3838e-07	4.60451e-07	1	0	A	175299264	C	A	175299264	4	1	317	1	0	0	0	0	0	1	0	0	16432	893	31	3	349	3	TNR	1	175299264	Nonsense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	14763858	175299264	73951357	46	56379											
FAM20B	9917	broad.mit.edu	37	chr1	179041145	179041145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgaccccatctccccaGtgctctctgatcctcatctg	6	11	5	19	0	4	2	1	2	3	0	7	2	5	2	6	0	1	1	6	0	0	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:179041145G>A	ENST00000263733.4	+	8	1432	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	366						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CATCTCCCCAGTGCTCTCTGA	0.557													35	89					0	0	0	0	A	179041145	G	A	179041145	3	1	317	1	0	0	0	0	1	0	0	0	5581	1029	36	4	1122	4	FAM20B	1	179041145	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	3741881	179041145	70209476	47	56380											
TMCC2	9911	broad.mit.edu	37	chr1	205238423	205238423	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccggcgcctgaaggagattGagcagaacgggccctcgcgg	8	4	17	12	5	0	4	0	2	0	2	1	5	0	4	3	4	2	1	3	4	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:205238423G>C	ENST00000358024.3	+	3	1482	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000329800.7_Missense_Mutation_p.E125Q|TMCC2_ENST00000330675.7_Missense_Mutation_p.E140Q|TMCC2_ENST00000545499.1_Missense_Mutation_p.E287Q	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	365						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GAAGGAGATTGAGCAGAACGG	0.632													9	9					0	0	0	0	C	205238423	G	C	205238423	3	2	317	1	0	0	0	0	1	0	0	0	16087	1291	45	2	1103	2	TMCC2	1	205238423	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	26197278	205238423	44012198	48	56381											
CR2	1380	broad.mit.edu	37	chr1	207643212	207643212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgttgtacagttgatagtcaGaagactgggacctggagtgg	10	10	15	6	1	1	3	1	1	0	2	1	5	1	5	1	3	1	3	1	3	3	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:207643212G>A	ENST00000367057.3	+	6	1179	c.990G>A	c.(988-990)caG>caA	p.Q330Q	CR2_ENST00000458541.2_Silent_p.Q330Q|CR2_ENST00000367058.3_Silent_p.Q330Q|CR2_ENST00000367059.3_Silent_p.Q330Q|CR2_ENST00000485707.1_3'UTR	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	330	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTGATAGTCAGAAGACTGGGA	0.517													10	25					0	0	0	0	A	207643212	G	A	207643212	2	1	317	1	0	0	0	0	0	0	0	1	3872	933	33	2		2	CR2	1	207643212	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2404789	207643212	41607409	49	56382											
SERTAD4	56256	broad.mit.edu	37	chr1	210415084	210415084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctgcctgctctttcaatgGcacctctgcccaagagtggt	6	11	9	15	0	3	1	1	0	2	1	3	1	3	1	4	2	3	2	4	2	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:210415084G>A	ENST00000367012.3	+	4	703	c.473G>A	c.(472-474)gGc>gAc	p.G158D	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	158							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TCTTTCAATGGCACCTCTGCC	0.453													42	97					0	0	0	0	A	210415084	G	A	210415084	3	1	317	1	0	0	0	0	1	0	0	0	14210	1203	42	4	483	4	SERTAD4	1	210415084	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2771872	210415084	38835537	50	56383											
KCNK2	3776	broad.mit.edu	37	chr1	215368397	215368397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcctgagcatgattggaGattggctccgagtgatatct	8	13	12	8	1	1	4	0	3	1	1	3	6	3	4	2	2	1	2	2	2	1	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:215368397G>A	ENST00000444842.2	+	6	1075	c.925G>A	c.(925-927)Gat>Aat	p.D309N	KCNK2_ENST00000391894.2_Missense_Mutation_p.D294N|KCNK2_ENST00000391895.2_Missense_Mutation_p.D305N	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	309				DWL -> RLV (in Ref. 3; AAD01203).			outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CATGATTGGAGATTGGCTCCG	0.373													46	134					0	0	0	0	A	215368397	G	A	215368397	3	1	317	1	0	0	0	0	1	0	0	0	8119	942	33	2	990	2	KCNK2	1	215368397	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4953313	215368397	33882224	51	56384											
ZNF678	339500	broad.mit.edu	37	chr1	227842557	227842557	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaactagccataagaaaatTcatagtggagagaaaccata	19	8	7	7	0	1	2	1	0	0	2	1	4	1	3	2	1	3	0	2	1	8	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:227842557T>G	ENST00000343776.4	+	4	951	c.606T>G	c.(604-606)atT>atG	p.I202M	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.I257M			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	257					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ATAAGAAAATTCATAGTGGAG	0.368													39	116					0	0	0	0	G	227842557	T	G	227842557	3	3	317	1	0	0	0	0	1	0	0	0	18180	1771	62	5	785	5	ZNF678	1	227842557	Missense_Mutation	SNP	T	TCGA-CV-7427-01A-11D-2078-08	12474160	227842557	21408064	52	56385											
KIDINS220	57498	broad.mit.edu	37	chr2	8871880	8871880	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttttcttgctctaggtttGaatgaatagagccccctgat	8	15	8	10	0	2	4	0	3	2	1	2	4	2	4	3	1	2	2	3	1	4	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:8871880G>C	ENST00000256707.3	-	30	4467	c.4286C>G	c.(4285-4287)tCa>tGa	p.S1429*	KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.S1410*|KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.S1330*|KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.S1410*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1429					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCTAGGTTTGAATGAATAGA	0.463													29	99					0	0	0	0	C	8871880	G	C	8871880	4	2	317	1	0	0	0	0	0	1	0	0	8322	1294	45	2	1033	2	KIDINS220	2	8871880	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08		8871880	234327493	53	56386											
NBAS	51594	broad.mit.edu	37	chr2	15415720	15415720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataggcatgaagccactccGgtgaagagcctgggacttgt	10	8	13	10	1	0	3	0	2	0	1	1	4	1	4	3	3	2	1	3	3	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:15415720G>A	ENST00000281513.5	-	44	5637	c.5612C>T	c.(5611-5613)cCg>cTg	p.P1871L	NBAS_ENST00000441750.1_Missense_Mutation_p.P1751L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1871										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGCCACTCCGGTGAAGAGCC	0.478													14	50					0	0	0	0	A	15415720	G	A	15415720	3	1	317	1	0	0	0	0	1	0	0	0	10256	1116	39	1	1539	1	NBAS	2	15415720	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	6543840	15415720	227783653	54	56387											
KCNS3	3790	broad.mit.edu	37	chr2	18113476	18113476	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcatcttggtggtggcccttCccatcaccatcatcttcaac	7	12	7	15	0	5	0	3	0	2	0	6	0	6	0	3	3	1	1	3	3	1	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:18113476C>G	ENST00000403915.1	+	3	1652	c.1201C>G	c.(1201-1203)Ccc>Gcc	p.P401A	KCNS3_ENST00000304101.4_Missense_Mutation_p.P401A|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	401					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTGGCCCTTCCCATCACCAT	0.517													20	48					0	0	0	0	G	18113476	C	G	18113476	3	3	317	1	0	0	0	0	1	0	0	0	8143	855	30	2	1203	2	KCNS3	2	18113476	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2697756	18113476	225085897	55	56388											
ASXL2	55252	broad.mit.edu	37	chr2	25965130	25965130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtgacagtcactgaaaatGacatgacatcacctacattg	15	10	7	9	0	2	4	2	4	0	0	2	4	2	4	1	0	1	0	1	0	4	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:25965130G>A	ENST00000435504.4	-	13	4369	c.4076C>T	c.(4075-4077)tCa>tTa	p.S1359L	ASXL2_ENST00000272341.4_Missense_Mutation_p.S842L|ASXL2_ENST00000336112.4_Missense_Mutation_p.S1331L|ASXL2_ENST00000404843.1_Missense_Mutation_p.S842L			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGAAAATGACATGACATC	0.493													9	21					0	0	0	0	A	25965130	G	A	25965130	3	1	317	1	0	0	0	0	1	0	0	0	1071	1294	45	2	235	2	ASXL2	2	25965130	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	7851654	25965130	217234243	56	56389											
BIRC6	57448	broad.mit.edu	37	chr2	32605289	32605289	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagagggttatgatttgttCatcacacagctcaaagatgg	13	11	10	7	0	3	3	3	1	0	2	3	3	3	3	0	2	1	3	0	2	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:32605289C>T	ENST00000421745.2	+	3	710	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	192					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGATTTGTTCATCACACAGC	0.333													3	10					0	0	0	0	T	32605289	C	T	32605289	2	4	317	1	0	0	0	0	0	0	0	1	1443	825	29	2		2	BIRC6	2	32605289	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	6640159	32605289	210594084	57	56390											
VIT	5212	broad.mit.edu	37	chr2	37028511	37028511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatctgaagacagccataGagaaaattactcagagagga	18	6	11	6	0	2	5	1	1	1	4	2	9	2	6	1	1	2	0	1	1	5	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:37028511G>C	ENST00000379242.3	+	13	1428	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	VIT_ENST00000389975.3_Missense_Mutation_p.E361Q|VIT_ENST00000497382.1_Missense_Mutation_p.E30Q|VIT_ENST00000404084.1_Missense_Mutation_p.E313Q|VIT_ENST00000379241.3_Missense_Mutation_p.E339Q|VIT_ENST00000401530.1_Missense_Mutation_p.E340Q	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	361	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GACAGCCATAGAGAAAATTAC	0.393													39	106					0	0	0	0	C	37028511	G	C	37028511	3	2	317	1	0	0	0	0	1	0	0	0	17267	943	33	2	1297	2	VIT	2	37028511	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4423222	37028511	206170862	58	56391											
CCDC88A	55704	broad.mit.edu	37	chr2	55561259	55561259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtaaccaacgtttttatatCaatagttgctcttttcacaa	12	17	4	8	1	3	0	2	0	1	0	3	0	3	0	1	0	3	4	1	0	7	9			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:55561259C>T	ENST00000436346.1	-	15	3539	c.2698G>A	c.(2698-2700)Gat>Aat	p.D900N	AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D900N|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D900N|CCDC88A_ENST00000413716.2_Missense_Mutation_p.D900N	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	900					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTTTTTATATCAATAGTTGCT	0.279													10	27					0	0	0	0	T	55561259	C	T	55561259	3	4	317	1	0	0	0	0	1	0	0	0	2890	826	29	2	2989	2	CCDC88A	2	55561259	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	18532748	55561259	187638114	59	56392											
KIAA1841	84542	broad.mit.edu	37	chr2	61300626	61300626	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcttccacaaggaattgttCttcagaaagtgaaaattgta	15	12	8	6	0	2	2	1	1	1	1	3	3	3	3	1	1	1	3	1	1	6	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:61300626C>G	ENST00000402291.1	+	5	612	c.371C>G	c.(370-372)tCt>tGt	p.S124C	KIAA1841_ENST00000295031.5_Missense_Mutation_p.S124C|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S124C|KIAA1841_ENST00000356719.2_Missense_Mutation_p.S124C|KIAA1841_ENST00000482513.1_3'UTR	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	124										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AGGAATTGTTCTTCAGAAAGT	0.353													10	35					0	0	0	0	G	61300626	C	G	61300626	3	3	317	1	0	0	0	0	1	0	0	0	8312	913	32	2	381	2	KIAA1841	2	61300626	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	5739367	61300626	181898747	60	56393											
ARHGAP25	9938	broad.mit.edu	37	chr2	69045102	69045102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctcatcaggtcgaaggtcGaagaccctgccgtgatcatg	10	9	11	11	3	3	2	3	1	1	1	6	4	3	2	2	2	1	0	2	2	2	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:69045102G>A	ENST00000295381.3	+	8	1395	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	ARHGAP25_ENST00000497079.1_Missense_Mutation_p.E320K|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E327K|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E287K|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E319K|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E320K|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E20K	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	326	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTCGAAGGTCGAAGACCCTGC	0.468													15	36					0	0	0	0	A	69045102	G	A	69045102	3	1	317	1	0	0	0	0	1	0	0	0	876	1059	37	1	1049	1	ARHGAP25	2	69045102	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	7744476	69045102	174154271	61	56394											
HTRA2	27429	broad.mit.edu	37	chr2	74757145	74757145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggagctgatggctgcgccGagggcggggcggggtgcagg	4	4	24	9	5	0	1	0	1	0	0	0	3	0	2	1	8	3	3	1	8	0	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:74757145G>A	ENST00000258080.3	+	1	642	c.12G>A	c.(10-12)ccG>ccA	p.P4P	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Silent_p.P4P	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	4					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	p.P4P(2)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TGGCTGCGCCGAGGGCGGGGC	0.741													8	33					0	0	0	0	A	74757145	G	A	74757145	2	1	317	1	0	0	0	0	0	0	0	1	7507	1045	37	1		1	HTRA2	2	74757145	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	5712043	74757145	168442228	62	56395											
HTRA2	27429	broad.mit.edu	37	chr2	74757169	74757169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcggggcggggtgcaggctgGagccttcgggcatggcgggc	3	5	23	10	4	0	0	0	0	0	0	1	1	0	1	1	9	2	3	1	9	0	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:74757169G>C	ENST00000258080.3	+	1	666	c.36G>C	c.(34-36)tgG>tgC	p.W12C	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Missense_Mutation_p.W12C	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	12					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GTGCAGGCTGGAGCCTTCGGG	0.716													10	39					0	0	0	0	C	74757169	G	C	74757169	3	2	317	1	0	0	0	0	1	0	0	0	7507	1183	41	2	38	2	HTRA2	2	74757169	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	24	74757169	168442204	63	56396											
HK2	3099	broad.mit.edu	37	chr2	75100416	75100416	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccagagtttcctggtctCatggaccaagggattcaagt	9	13	10	9	0	2	1	2	0	1	1	5	3	4	3	3	3	0	1	3	3	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:75100416C>G	ENST00000290573.2	+	5	1109	c.509C>G	c.(508-510)tCa>tGa	p.S170*	HK2_ENST00000409174.1_Nonsense_Mutation_p.S142*	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	170	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTCCTGGTCTCATGGACCAAG	0.522													17	94					0	0	0	0	G	75100416	C	G	75100416	4	3	317	1	0	0	0	0	0	1	0	0	7241	838	29	2	527	2	HK2	2	75100416	Nonsense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	343247	75100416	168098957	64	56397											
TMEM131	23505	broad.mit.edu	37	chr2	98409038	98409038	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggcgggagacagcctttCaggctgcggctcctggggct	4	7	19	11	2	1	1	1	0	0	1	2	2	2	1	2	7	2	3	2	7	0	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:98409038C>G	ENST00000186436.5	-	31	4183	c.3955G>C	c.(3955-3957)Gaa>Caa	p.E1319Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1319	Pro-rich.					integral to membrane		p.E1206Q(1)|p.E1206*(1)|p.E1319Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GACAGCCTTTCAGGCTGCGGC	0.677													6	9					0	0	0	0	G	98409038	C	G	98409038	3	3	317	1	0	0	0	0	1	0	0	0	16138	835	29	2	1740	2	TMEM131	2	98409038	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	23308622	98409038	144790335	65	56398											
CHST10	9486	broad.mit.edu	37	chr2	101010229	101010229	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcttacaataaaaaacttGaagtatgttttcaatctaag	16	15	4	6	0	3	1	1	1	2	0	4	1	3	1	0	0	2	2	0	0	9	7			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:101010229G>C	ENST00000264249.3	-	7	934	c.549C>G	c.(547-549)ttC>ttG	p.F183L	CHST10_ENST00000409701.1_Missense_Mutation_p.F183L|CHST10_ENST00000542617.1_Missense_Mutation_p.F231L	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	183					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TAAAAAACTTGAAGTATGTTT	0.423													13	37					0	0	0	0	C	101010229	G	C	101010229	3	2	317	1	0	0	0	0	1	0	0	0	3427	1281	45	2	525	2	CHST10	2	101010229	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2601191	101010229	142189144	66	56399											
SMPD4	55627	broad.mit.edu	37	chr2	130911298	130911298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaatatctggcgcaggtactCcagggccttctccaggtatt	8	11	11	11	1	2	0	0	0	2	0	4	1	3	0	3	4	1	3	3	4	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:130911298C>T	ENST00000409031.1	-	17	3135	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	SMPD4_ENST00000453750.1_Missense_Mutation_p.E412K|SMPD4_ENST00000431183.2_Missense_Mutation_p.E561K|SMPD4_ENST00000443958.2_Missense_Mutation_p.E327K|SMPD4_ENST00000339679.7_Missense_Mutation_p.E521K|SMPD4_ENST00000351288.6_Missense_Mutation_p.E634K|SMPD4_ENST00000452225.2_Missense_Mutation_p.E404K|SMPD4_ENST00000426662.2_Missense_Mutation_p.E299K	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	624					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CGCAGGTACTCCAGGGCCTTC	0.597													6	45					0	0	0	0	T	130911298	C	T	130911298	3	4	317	1	0	0	0	0	1	0	0	0	14895	864	30	2	629	2	SMPD4	2	130911298	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	29901069	130911298	112288075	67	56400											
LRP1B	53353	broad.mit.edu	37	chr2	141259290	141259290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggtcttgacagtcttgaGaacatccactgactttctta	11	13	8	9	0	3	3	0	3	3	1	4	5	4	3	1	1	1	0	1	1	3	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:141259290G>A	ENST00000389484.3	-	55	9787	c.8816C>T	c.(8815-8817)tCt>tTt	p.S2939F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2939	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGTCTTGAGAACATCCACT	0.388										TSP Lung(27;0.18)			12	79					0	0	0	0	A	141259290	G	A	141259290	3	1	317	1	0	0	0	0	1	0	0	0	9019	942	33	2	5131	2	LRP1B	2	141259290	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	10347992	141259290	101940083	68	56401											
SCN3A	6328	broad.mit.edu	37	chr2	166020352	166020352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagagctctcaagactctGaaagttcgaagggctgaaac	13	9	10	9	1	3	4	2	2	2	2	5	5	3	4	0	1	2	3	0	1	4	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:166020352G>A	ENST00000360093.3	-	7	1145	c.654C>T	c.(652-654)ttC>ttT	p.F218F	SCN3A_ENST00000409101.3_Silent_p.F218F|SCN3A_ENST00000283254.7_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	218						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCAAGACTCTGAAAGTTCGAA	0.373													8	19					0	0	0	0	A	166020352	G	A	166020352	2	1	317	1	0	0	0	0	0	0	0	1	14005	1281	45	2		2	SCN3A	2	166020352	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	24761062	166020352	77179021	69	56402											
CSRNP3	80034	broad.mit.edu	37	chr2	166533010	166533010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagattgacgtggaagaaaaGcacgaactccgagccatccg	15	5	11	10	4	0	3	0	1	0	2	2	6	2	4	3	1	3	1	3	1	5	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:166533010G>T	ENST00000314499.7	+	6	973	c.597G>T	c.(595-597)aaG>aaT	p.K199N	CSRNP3_ENST00000342316.4_Missense_Mutation_p.K199N|CSRNP3_ENST00000409420.1_Missense_Mutation_p.K231N	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	199					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGGAAGAAAAGCACGAACTCC	0.522													30	78					1.2476e-16	1.34545e-16	1	0	T	166533010	G	T	166533010	3	4	317	1	0	0	0	0	1	0	0	0	3997	962	34	4	607	4	CSRNP3	2	166533010	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	512658	166533010	76666363	70	56403											
HOXD10	3236	broad.mit.edu	37	chr2	176982029	176982029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatattttagactgagtcaGacctacgccaccgggaaaac	13	8	10	10	2	1	3	1	1	0	2	1	5	1	5	3	2	2	0	3	2	5	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:176982029G>C	ENST00000249501.4	+	1	723	c.468G>C	c.(466-468)caG>caC	p.Q156H	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	156						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GACTGAGTCAGACCTACGCCA	0.582													16	107					0	0	0	0	C	176982029	G	C	176982029	3	2	317	1	0	0	0	0	1	0	0	0	7369	933	33	2	470	2	HOXD10	2	176982029	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	10449019	176982029	66217344	71	56404											
STAT1	6772	broad.mit.edu	37	chr2	191859795	191859795	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccttgagttacctctgaatGagctgctggaaaagactgaa	12	10	10	9	0	1	5	0	4	1	1	1	6	1	6	2	1	3	3	2	1	5	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:191859795G>C	ENST00000361099.3	-	10	1323	c.936C>G	c.(934-936)ctC>ctG	p.L312L	STAT1_ENST00000409465.1_Silent_p.L312L|STAT1_ENST00000392323.2_Silent_p.L314L|STAT1_ENST00000392322.3_Silent_p.L312L|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	312					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ACCTCTGAATGAGCTGCTGGA	0.388													7	44					0	0	0	0	C	191859795	G	C	191859795	2	2	317	1	0	0	0	0	0	0	0	1	15354	1277	45	2		2	STAT1	2	191859795	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	14877766	191859795	51339578	72	56405											
STAT1	6772	broad.mit.edu	37	chr2	191859849	191859849	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacacttgtttgttttttgtGatagggtcatgttcgtaggt	7	19	11	4	1	1	1	1	1	0	0	2	1	1	1	0	2	1	4	0	2	3	8			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:191859849G>C	ENST00000361099.3	-	10	1269	c.882C>G	c.(880-882)atC>atG	p.I294M	STAT1_ENST00000409465.1_Missense_Mutation_p.I294M|STAT1_ENST00000392323.2_Missense_Mutation_p.I296M|STAT1_ENST00000392322.3_Missense_Mutation_p.I294M|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	294					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGTTTTTTGTGATAGGGTCAT	0.438													7	49					0	0	0	0	C	191859849	G	C	191859849	3	2	317	1	0	0	0	0	1	0	0	0	15354	1280	45	2	1438	2	STAT1	2	191859849	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	54	191859849	51339524	73	56406											
NBEAL1	65065	broad.mit.edu	37	chr2	204000956	204000956	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctttagtgatgacttctCtttacttgaaagccaagagg	10	13	11	7	0	1	4	0	3	1	1	2	4	1	4	1	2	2	1	1	2	4	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:204000956C>G	ENST00000449802.1	+	27	4616	c.4283C>G	c.(4282-4284)tCt>tGt	p.S1428C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1428							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GATGACTTCTCTTTACTTGAA	0.363													11	40					0	0	0	0	G	204000956	C	G	204000956	3	3	317	1	0	0	0	0	1	0	0	0	10258	913	32	2	4385	2	NBEAL1	2	204000956	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	12141107	204000956	39198417	74	56407											
GLB1L	79411	broad.mit.edu	37	chr2	220102389	220102389	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaaggttatcaattttcaGagggaacatcatccactggg	13	10	9	9	0	3	1	3	0	0	1	4	2	4	2	1	3	1	1	1	3	4	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:220102389G>C	ENST00000295759.7	-	16	1847	c.1534C>G	c.(1534-1536)Ctg>Gtg	p.L512V	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Missense_Mutation_p.L422V|GLB1L_ENST00000392089.2_Missense_Mutation_p.L512V|GLB1L_ENST00000356283.3_Missense_Mutation_p.L422V			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	512					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAATTTTCAGAGGGAACATC	0.453													19	46					0	0	0	0	C	220102389	G	C	220102389	3	2	317	1	0	0	0	0	1	0	0	0	6479	933	33	2	438	2	GLB1L	2	220102389	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	16101433	220102389	23096984	75	56408											
STK16	8576	broad.mit.edu	37	chr2	220111834	220111834	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagggaaacttgtgttgcaGagaggtacgctgtggaatga	11	10	16	4	1	0	2	0	1	0	1	0	5	0	4	0	3	3	5	0	3	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:220111834G>C	ENST00000409638.3	+	4	478		c.e4-1		STK16_ENST00000396738.2_Splice_Site|STK16_ENST00000409743.1_Splice_Site|STK16_ENST00000486813.1_Splice_Site|STK16_ENST00000409260.1_Splice_Site|STK16_ENST00000409516.3_Intron	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16						protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGTTGCAGAGAGGTACGC	0.502													9	21					0	0	0	0	C	220111834	G	C	220111834	5	2	317	1	0	0	0	0	0	0	1	0	15379	956	33	2	316	2	STK16	2	220111834	Splice_Site	SNP	G	TCGA-CV-7427-01A-11D-2078-08	9445	220111834	23087539	76	56409											
IRS1	3667	broad.mit.edu	37	chr2	227660640	227660640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccatcttcatgtactcctCagtgccagtctcttcctctc	5	15	5	16	0	5	0	2	0	3	0	10	0	8	0	4	0	2	1	4	0	1	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:227660640C>T	ENST00000305123.4	-	1	3835	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	939					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ATGTACTCCTCAGTGCCAGTC	0.652													19	82					0	0	0	0	T	227660640	C	T	227660640	3	4	317	1	0	0	0	0	1	0	0	0	7893	835	29	2	917	2	IRS1	2	227660640	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	7548806	227660640	15538733	77	56410											
GIGYF2	26058	broad.mit.edu	37	chr2	233710554	233710554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggatttacgcagtggtgtGaacagatgcttcatgccctt	9	13	11	8	1	1	2	1	1	0	1	1	3	1	3	1	2	4	2	1	2	2	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:233710554G>A	ENST00000373566.3	+	27	3681	c.3484G>A	c.(3484-3486)Gaa>Aaa	p.E1162K	GIGYF2_ENST00000409547.1_Missense_Mutation_p.E1140K|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E1162K|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E1140K|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E1161K|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E1134K			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1140					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCAGTGGTGTGAACAGATGCT	0.453													11	40					0	0	0	0	A	233710554	G	A	233710554	3	1	317	1	0	0	0	0	1	0	0	0	6429	1291	45	2	3582	2	GIGYF2	2	233710554	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	6049914	233710554	9488819	78	56411											
INPP5D	3635	broad.mit.edu	37	chr2	234104054	234104054	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttccttccagactttgtgaAgacggagcgtgatgaatcca	10	12	10	9	2	0	5	0	3	0	2	3	6	3	6	3	1	1	0	3	1	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:234104054A>G	ENST00000359570.5	+	26	2570	c.2570A>G	c.(2569-2571)aAg>aGg	p.K857R	INPP5D_ENST00000455936.2_Missense_Mutation_p.K621R|INPP5D_ENST00000450745.1_Missense_Mutation_p.K621R			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	869					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GACTTTGTGAAGACGGAGCGT	0.562													15	50					0	0	0	0	G	234104054	A	G	234104054	3	3	317	1	0	0	0	0	1	0	0	0	7809	72	3	5	2208	5	INPP5D	2	234104054	Missense_Mutation	SNP	A	TCGA-CV-7427-01A-11D-2078-08	393500	234104054	9095319	79	56412											
TRPM8	79054	broad.mit.edu	37	chr2	234888876	234888876	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttactgacctgtggaatgtGatggacacgctggggctttt	7	14	13	7	1	0	2	0	2	0	0	0	4	0	4	1	4	1	2	1	4	2	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:234888876G>T	ENST00000324695.4	+	18	2440	c.2400G>T	c.(2398-2400)gtG>gtT	p.V800V	TRPM8_ENST00000433712.2_Silent_p.V378V	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	800						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGTGGAATGTGATGGACACGC	0.408													6	25					0.00198382	0.00202396	1	0	T	234888876	G	T	234888876	2	4	317	1	0	0	0	0	0	0	0	1	16687	1277	45	2		2	TRPM8	2	234888876	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	784822	234888876	8310497	80	56413											
HDLBP	3069	broad.mit.edu	37	chr2	242194963	242194963	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttgtgttgggatttcttCacttccactgcaatggttgt	6	18	9	8	0	2	0	1	0	1	0	3	1	3	1	1	2	2	3	1	2	2	7			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:242194963C>G	ENST00000391975.1	-	8	1133	c.906G>C	c.(904-906)gtG>gtC	p.V302V	HDLBP_ENST00000427183.2_Intron|HDLBP_ENST00000310931.4_Silent_p.V302V|HDLBP_ENST00000391976.2_Silent_p.V302V	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	302	KH 2.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGGATTTCTTCACTTCCACTG	0.493													20	74					0	0	0	0	G	242194963	C	G	242194963	2	3	317	1	0	0	0	0	0	0	0	1	7075	813	29	2		2	HDLBP	2	242194963	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	7306087	242194963	1004410	81	56414											
LRRN1	57633	broad.mit.edu	37	chr3	3887186	3887186	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacttcaaaaatatgctTcggttaaaagaactgggaat	15	10	11	5	1	1	1	1	0	0	1	2	3	1	3	0	4	2	2	0	4	7	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:3887186T>C	ENST00000319331.3	+	2	1622	c.861T>C	c.(859-861)ctT>ctC	p.L287L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	287						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAAATATGCTTCGGTTAAAAG	0.438													16	69					0	0	0	0	C	3887186	T	C	3887186	2	2	317	1	0	0	0	0	0	0	0	1	9098	1770	62	5		5	LRRN1	3	3887186	Silent	SNP	T	TCGA-CV-7427-01A-11D-2078-08		3887186	194135244	82	56415											
RAD18	56852	broad.mit.edu	37	chr3	8940660	8940660	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctcttctctgtcaggttCcaattcctctggggagtcca	6	14	8	13	0	4	0	1	0	3	0	9	1	8	1	4	3	0	1	4	3	1	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:8940660C>A	ENST00000264926.2	-	11	1356	c.1240G>T	c.(1240-1242)Gaa>Taa	p.E414*		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	414					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CTGTCAGGTTCCAATTCCTCT	0.368								Rad6 pathway					9	31					1.76689e-08	1.87868e-08	1	0	A	8940660	C	A	8940660	4	1	317	1	0	0	0	0	0	1	0	0	13062	864	30	2	259	2	RAD18	3	8940660	Nonsense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	5053474	8940660	189081770	83	56416											
IRAK2	3656	broad.mit.edu	37	chr3	10264469	10264469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgccagaggatttcatccGggtggggcagctgacaaagc	9	8	14	10	1	2	2	1	1	1	1	3	3	3	3	2	4	3	2	2	4	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:10264469G>A	ENST00000256458.4	+	9	1253	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	388	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GATTTCATCCGGGTGGGGCAG	0.527													22	72					0	0	0	0	A	10264469	G	A	10264469	3	1	317	1	0	0	0	0	1	0	0	0	7876	1116	39	1	1197	1	IRAK2	3	10264469	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1323809	10264469	187757961	84	56417											
NR1D2	9975	broad.mit.edu	37	chr3	24003755	24003755	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatacctttatgtataatCaagagcagcaagaaaactca	18	9	7	7	0	2	2	2	0	0	2	2	3	2	3	1	1	4	3	1	1	8	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:24003755C>G	ENST00000312521.4	+	5	1124	c.805C>G	c.(805-807)Caa>Gaa	p.Q269E	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	269					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TATGTATAATCAAGAGCAGCA	0.423													12	39					0	0	0	0	G	24003755	C	G	24003755	3	3	317	1	0	0	0	0	1	0	0	0	10687	827	29	2	823	2	NR1D2	3	24003755	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	13739286	24003755	174018675	85	56418											
NR1D2	9975	broad.mit.edu	37	chr3	24003916	24003916	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcatctcaatggacagttCaaagggaggaatataatgca	16	8	10	7	0	2	0	2	0	1	0	3	3	2	3	0	3	2	3	0	3	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:24003916C>T	ENST00000312521.4	+	5	1285	c.966C>T	c.(964-966)ttC>ttT	p.F322F	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	322					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ATGGACAGTTCAAAGGGAGGA	0.398													9	28					0	0	0	0	T	24003916	C	T	24003916	2	4	317	1	0	0	0	0	0	0	0	1	10687	825	29	2		2	NR1D2	3	24003916	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	161	24003916	174018514	86	56419											
MYRIP	25924	broad.mit.edu	37	chr3	40223839	40223839	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgctctgcccagctggaaGagtgtggacaggctggatga	8	9	15	9	0	2	2	0	1	2	1	2	5	2	5	1	4	3	3	1	4	1	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:40223839G>A	ENST00000302541.6	+	9	1344	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	MYRIP_ENST00000444716.1_Silent_p.K334K|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Silent_p.K147K|MYRIP_ENST00000396217.3_Silent_p.K245K|MYRIP_ENST00000425621.1_Silent_p.K334K	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	334	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCAGCTGGAAGAGTGTGGACA	0.522													9	29					0	0	0	0	A	40223839	G	A	40223839	2	1	317	1	0	0	0	0	0	0	0	1	10170	933	33	2		2	MYRIP	3	40223839	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	16219923	40223839	157798591	87	56420											
PTPN23	25930	broad.mit.edu	37	chr3	47448093	47448093	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatctactacttcgcagcCgtggctcatgtgagggcctg	8	10	12	11	2	2	2	1	1	1	1	3	2	2	2	2	2	3	2	2	2	3	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:47448093C>G	ENST00000265562.4	+	8	827	c.750C>G	c.(748-750)gcC>gcG	p.A250A	PTPN23_ENST00000431726.1_Silent_p.A124A	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	250	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTTCGCAGCCGTGGCTCATG	0.627													9	23					0	0	0	0	G	47448093	C	G	47448093	2	3	317	1	0	0	0	0	0	0	0	1	12870	639	23	3		3	PTPN23	3	47448093	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	7224254	47448093	150574337	88	56421											
SCAP	22937	broad.mit.edu	37	chr3	47484421	47484421	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatgggataggatgcacaGaggagcccatggttgtagaa	12	7	17	5	0	0	2	0	0	0	2	0	6	0	6	1	5	2	3	1	5	3	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:47484421G>A	ENST00000265565.5	-	2	475	c.63C>T	c.(61-63)ctC>ctT	p.L21L	SCAP_ENST00000441517.2_5'UTR|SCAP_ENST00000545718.1_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	21					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	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi 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)		AGGATGCACAGAGGAGCCCAT	0.537													6	29					0	0	0	0	A	47484421	G	A	47484421	2	1	317	1	0	0	0	0	0	0	0	1	13963	929	33	2		2	SCAP	3	47484421	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	36328	47484421	150538009	89	56422											
NAT6	24142	broad.mit.edu	37	chr3	50334679	50334679	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtcagcacaagcatcCaggagctcgggtcggcggtg	9	6	16	10	3	1	1	1	1	0	0	4	2	2	2	1	5	3	3	1	5	1	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:50334679C>A	ENST00000443842.1	-	2	1023	c.216G>T	c.(214-216)ctG>ctT	p.L72L	HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000354862.4_Silent_p.L94L|NAT6_ENST00000417393.1_Silent_p.L72L|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000443094.2_Silent_p.L72L|HYAL3_ENST00000415204.1_Intron					N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CACAAGCATCCAGGAGCTCGG	0.642													9	40					0.000442599	0.000456171	1	0	A	50334679	C	A	50334679	2	1	317	1	0	0	0	0	0	0	0	1	10248	581	21	4		4	NAT6	3	50334679	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2850258	50334679	147687751	90	56423											
CACNA1D	776	broad.mit.edu	37	chr3	53834389	53834389	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaagaagatgatgtgttCaaagtaattattccacgcct	15	11	9	6	1	1	4	1	1	0	3	2	5	2	4	2	0	0	2	2	0	6	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:53834389C>T	ENST00000288139.3	+	42	5215	c.5097C>T	c.(5095-5097)ttC>ttT	p.F1699F	CACNA1D_ENST00000544977.1_Silent_p.F58F|CACNA1D_ENST00000350061.5_Silent_p.F1679F|CACNA1D_ENST00000422281.2_Silent_p.F1664F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1679					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATGATGTGTTCAAAGTAATTA	0.468													17	49					0	0	0	0	T	53834389	C	T	53834389	2	4	317	1	0	0	0	0	0	0	0	1	2566	825	29	2		2	CACNA1D	3	53834389	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	3499710	53834389	144188041	91	56424											
SLMAP	7871	broad.mit.edu	37	chr3	57857389	57857389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctttcaaagagtggcgggGactgcacttttattcatcaa	10	13	10	8	1	3	1	3	0	0	1	3	2	3	2	0	3	2	2	0	3	3	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:57857389G>A	ENST00000295951.3	+	12	2379	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	SLMAP_ENST00000428312.1_Missense_Mutation_p.D405N|SLMAP_ENST00000383718.3_Intron|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.D388N			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	405					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GAGTGGCGGGGACTGCACTTT	0.358													9	38					0	0	0	0	A	57857389	G	A	57857389	3	1	317	1	0	0	0	0	1	0	0	0	14837	1174	41	2	1204	2	SLMAP	3	57857389	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4023000	57857389	140165041	92	56425											
DZIP3	9666	broad.mit.edu	37	chr3	108380811	108380811	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctttataaattgcactatCagtgtgaagtaagtattttt	13	17	7	4	0	1	1	1	1	0	0	1	1	1	1	0	0	2	4	0	0	7	9			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:108380811C>T	ENST00000361582.3	+	20	2517	c.2287C>T	c.(2287-2289)Cag>Tag	p.Q763*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.Q763*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	763					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATTGCACTATCAGTGTGAAGT	0.373													10	23					0	0	0	0	T	108380811	C	T	108380811	4	4	317	1	0	0	0	0	0	1	0	0	4901	827	29	2	2361	2	DZIP3	3	108380811	Nonsense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	50523422	108380811	89641619	93	56426											
DPPA2	151871	broad.mit.edu	37	chr3	109026903	109026903	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcttgcatcaaaaaggcctCaacagaaacaggaatggaac	17	5	10	9	0	2	1	2	0	0	1	2	3	2	3	1	4	4	2	1	4	6	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:109026903C>G	ENST00000478945.1	-	6	880	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	212						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAAAAGGCCTCAACAGAAACA	0.458													11	15					0	0	0	0	G	109026903	C	G	109026903	3	3	317	1	0	0	0	0	1	0	0	0	4770	835	29	2	274	2	DPPA2	3	109026903	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	646092	109026903	88995527	94	56427											
ARHGAP31	57514	broad.mit.edu	37	chr3	119135106	119135106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaagtgggaggcaaataGaatgatttcggttcacctgc	13	9	13	6	1	1	3	1	1	0	2	2	5	1	4	1	3	1	2	1	3	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:119135106G>C	ENST00000264245.4	+	12	4862	c.4330G>C	c.(4330-4332)Gaa>Caa	p.E1444Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1444					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAGGCAAATAGAATGATTTCG	0.463													14	31					0	0	0	0	C	119135106	G	C	119135106	3	2	317	1	0	0	0	0	1	0	0	0	882	943	33	2	4376	2	ARHGAP31	3	119135106	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	10108203	119135106	78887324	95	56428											
GOLGB1	2804	broad.mit.edu	37	chr3	121410602	121410602	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctatattggatcagttCtgcatctagcttggcattct	7	18	7	9	0	5	0	1	0	4	0	6	1	5	1	0	2	2	4	0	2	3	8			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:121410602C>G	ENST00000393667.3	-	14	7719	c.7609G>C	c.(7609-7611)Gaa>Caa	p.E2537Q	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E2532Q	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2532					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGGATCAGTTCTGCATCTAGC	0.398													51	116					0	0	0	0	G	121410602	C	G	121410602	3	3	317	1	0	0	0	0	1	0	0	0	6613	922	32	2	2221	2	GOLGB1	3	121410602	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2275496	121410602	76611828	96	56429											
GOLGB1	2804	broad.mit.edu	37	chr3	121411229	121411229	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctaaagagttacttaaatCagtcaactggtctttgagac	13	14	7	7	0	4	2	2	1	2	2	4	3	4	2	0	1	2	1	0	1	6	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:121411229C>G	ENST00000393667.3	-	14	7092	c.6982G>C	c.(6982-6984)Gat>Cat	p.D2328H	GOLGB1_ENST00000340645.5_Missense_Mutation_p.D2323H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2323					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTACTTAAATCAGTCAACTGG	0.373													24	66					0	0	0	0	G	121411229	C	G	121411229	3	3	317	1	0	0	0	0	1	0	0	0	6613	826	29	2	2848	2	GOLGB1	3	121411229	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	627	121411229	76611201	97	56430											
HEG1	57493	broad.mit.edu	37	chr3	124731790	124731790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggtcagcgagagctgttttCcagctgtagtctgtacggct	6	12	14	9	2	2	1	1	0	1	1	3	2	3	1	1	2	4	6	1	2	2	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:124731790C>T	ENST00000311127.4	-	6	2700	c.2633G>A	c.(2632-2634)gGa>gAa	p.G878E		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	878						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAGCTGTTTTCCAGCTGTAGT	0.507													21	72					0	0	0	0	T	124731790	C	T	124731790	3	4	317	1	0	0	0	0	1	0	0	0	7094	855	30	2	1560	2	HEG1	3	124731790	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	3320561	124731790	73290640	98	56431											
TPRA1	131601	broad.mit.edu	37	chr3	127298673	127298673	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagcaggaagatgaggaaGagcacattggggatgagcag	15	4	17	5	0	0	5	0	2	0	3	0	8	0	8	0	4	3	3	0	4	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:127298673G>A	ENST00000355552.3	-	3	544	c.168C>T	c.(166-168)ctC>ctT	p.L56L	TPRA1_ENST00000489960.1_Silent_p.L56L|TPRA1_ENST00000296210.7_Silent_p.L56L|TPRA1_ENST00000450633.2_Silent_p.L56L	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	56					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						AGATGAGGAAGAGCACATTGG	0.582													4	43					0	0	0	0	A	127298673	G	A	127298673	2	1	317	1	0	0	0	0	0	0	0	1	16512	929	33	2		2	TPRA1	3	127298673	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2566883	127298673	70723757	99	56432											
PLXND1	23129	broad.mit.edu	37	chr3	129324855	129324855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaaccggtgtacgtggcgcCcacgagcaggcggctgcccc	6	5	15	15	5	0	0	0	0	0	0	0	1	0	0	4	4	4	4	4	4	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:129324855C>T	ENST00000393239.1	-	1	806	c.628G>A	c.(628-630)Ggc>Agc	p.G210S	PLXND1_ENST00000324093.4_Missense_Mutation_p.G210S			Q9Y4D7	PLXD1_HUMAN	plexin D1	210	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TACGTGGCGCCCACGAGCAGG	0.711													3	12					0	0	0	0	T	129324855	C	T	129324855	3	4	317	1	0	0	0	0	1	0	0	0	12199	623	22	4	5293	4	PLXND1	3	129324855	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2026182	129324855	68697575	100	56433											
RASA2	5922	broad.mit.edu	37	chr3	141272764	141272764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacccttatgcaacagtttCtctagtgggcccttctaggt	7	14	9	11	0	2	1	0	1	2	0	3	1	2	1	2	2	2	2	2	2	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:141272764C>T	ENST00000286364.3	+	6	628	c.593C>T	c.(592-594)tCt>tTt	p.S198F	RASA2_ENST00000452898.1_Missense_Mutation_p.S198F			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	198	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GCAACAGTTTCTCTAGTGGGC	0.323													21	63					0	0	0	0	T	141272764	C	T	141272764	3	4	317	1	0	0	0	0	1	0	0	0	13143	913	32	2	615	2	RASA2	3	141272764	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	11947909	141272764	56749666	101	56434											
SI	6476	broad.mit.edu	37	chr3	164733862	164733862	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagtcaatgtctgtgtactGaacatcctgaaatatccaaa	14	12	7	8	0	2	2	1	2	1	0	4	2	4	2	2	0	2	2	2	0	7	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:164733862G>A	ENST00000264382.3	-	32	3828	c.3766C>T	c.(3766-3768)Cag>Tag	p.Q1256*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1256	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.Q1256E(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTGTGTACTGAACATCCTGA	0.333										HNSCC(35;0.089)			24	75					0	0	0	0	A	164733862	G	A	164733862	4	1	317	1	0	0	0	0	0	1	0	0	14385	1299	45	2	1785	2	SI	3	164733862	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	23461098	164733862	33288568	102	56435											
SLITRK3	22865	broad.mit.edu	37	chr3	164906954	164906954	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttctcattgaggtctatctgGacaatggcattcaagtgttc	9	15	9	8	0	4	1	2	1	3	0	6	2	4	2	0	3	0	2	0	3	3	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:164906954G>C	ENST00000475390.1	-	2	2108	c.1665C>G	c.(1663-1665)gtC>gtG	p.V555V	SLITRK3_ENST00000241274.3_Silent_p.V555V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	555						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGTCTATCTGGACAATGGCAT	0.527										HNSCC(40;0.11)			4	50					0	0	0	0	C	164906954	G	C	164906954	2	2	317	1	0	0	0	0	0	0	0	1	14832	1161	41	2		2	SLITRK3	3	164906954	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	173092	164906954	33115476	103	56436											
LRRC31	79782	broad.mit.edu	37	chr3	169572619	169572619	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcagtgacatcacgtcatCtgctgttagtgagcactggt	9	12	10	10	1	4	2	3	2	1	0	4	2	4	2	0	1	2	3	0	1	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:169572619C>G	ENST00000316428.5	-	6	1030	c.973G>C	c.(973-975)Gat>Cat	p.D325H	LRRC31_ENST00000264676.5_Missense_Mutation_p.D269H|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Missense_Mutation_p.D325H	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	325										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			ATCACGTCATCTGCTGTTAGT	0.408													16	63					0	0	0	0	G	169572619	C	G	169572619	3	3	317	1	0	0	0	0	1	0	0	0	9050	913	32	2	701	2	LRRC31	3	169572619	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	4665665	169572619	28449811	104	56437											
TTC14	151613	broad.mit.edu	37	chr3	180327993	180327993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagaaaagagcactataGaaggtgggaaccaggttctg	15	6	15	5	0	1	3	0	0	1	3	1	5	1	5	1	4	2	2	1	4	7	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:180327993G>T	ENST00000296015.4	+	12	2108	c.1976G>T	c.(1975-1977)aGa>aTa	p.R659I	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	659							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAGCACTATAGAAGGTGGGAA	0.403													9	39					0.000274275	0.000283168	1	0	T	180327993	G	T	180327993	3	4	317	1	0	0	0	0	1	0	0	0	16777	942	33	2	2052	2	TTC14	3	180327993	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	10755374	180327993	17694437	105	56438											
DCUN1D1	54165	broad.mit.edu	37	chr3	182683478	182683478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaacttactgctgttttttCactagattgtgtgaagatca	11	16	7	7	0	2	3	2	1	0	2	2	3	2	3	0	0	3	2	0	0	4	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:182683478C>T	ENST00000292782.4	-	2	220	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.E8K	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	23	UBA-like.					ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GCTGTTTTTTCACTAGATTGT	0.323													18	53					0	0	0	0	T	182683478	C	T	182683478	3	4	317	1	0	0	0	0	1	0	0	0	4345	835	29	2	736	2	DCUN1D1	3	182683478	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2355485	182683478	15338952	106	56439											
EIF4G1	1981	broad.mit.edu	37	chr3	184039824	184039824	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaggaggagaggaactgctCcccccagagagtacccctat	13	5	11	12	0	0	2	0	0	0	2	1	6	1	4	5	3	3	2	5	3	4	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:184039824C>T	ENST00000342981.4	+	9	1866	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	EIF4G1_ENST00000352767.3_Silent_p.L491L|EIF4G1_ENST00000392537.2_Silent_p.L397L|EIF4G1_ENST00000319274.6_Silent_p.L484L|EIF4G1_ENST00000350481.5_Silent_p.L320L|EIF4G1_ENST00000435046.2_Silent_p.L288L|EIF4G1_ENST00000382330.3_Silent_p.L491L|EIF4G1_ENST00000411531.1_Silent_p.L444L|EIF4G1_ENST00000414031.1_Silent_p.L444L|EIF4G1_ENST00000434061.2_Silent_p.L288L|EIF4G1_ENST00000441154.1_Silent_p.L320L|EIF4G1_ENST00000346169.2_Silent_p.L484L|EIF4G1_ENST00000424196.1_Silent_p.L491L|EIF4G1_ENST00000427845.1_Silent_p.L397L|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	484					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGAACTGCTCCCCCCAGAGA	0.537													18	49					0	0	0	0	T	184039824	C	T	184039824	2	4	317	1	0	0	0	0	0	0	0	1	5074	842	30	2		2	EIF4G1	3	184039824	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1356346	184039824	13982606	107	56440											
EIF4G1	1981	broad.mit.edu	37	chr3	184039888	184039888	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaggcagcagcagccactCaaggtaaggtgtggttggac	10	7	16	8	0	1	0	1	0	0	0	1	2	1	2	1	6	3	5	1	6	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:184039888C>G	ENST00000342981.4	+	9	1930	c.1516C>G	c.(1516-1518)Caa>Gaa	p.Q506E	EIF4G1_ENST00000352767.3_Missense_Mutation_p.Q513E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.Q419E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.Q506E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.Q342E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.Q310E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.Q513E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.Q466E|EIF4G1_ENST00000414031.1_Missense_Mutation_p.Q466E|EIF4G1_ENST00000434061.2_Missense_Mutation_p.Q310E|EIF4G1_ENST00000441154.1_Missense_Mutation_p.Q342E|EIF4G1_ENST00000346169.2_Missense_Mutation_p.Q506E|EIF4G1_ENST00000424196.1_Missense_Mutation_p.Q513E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.Q419E|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	506					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCAGCCACTCAAGGTAAGGT	0.547													14	55					0	0	0	0	G	184039888	C	G	184039888	3	3	317	1	0	0	0	0	1	0	0	0	5074	827	29	2	1546	2	EIF4G1	3	184039888	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	64	184039888	13982542	108	56441											
EIF4G1	1981	broad.mit.edu	37	chr3	184044351	184044351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaacaaccagctctttgcaCctggagggcgactgagctgg	9	8	12	12	1	1	1	0	1	1	0	1	3	1	2	2	3	5	3	2	3	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:184044351C>T	ENST00000342981.4	+	21	3676	c.3262C>T	c.(3262-3264)Cct>Tct	p.P1088S	EIF4G1_ENST00000352767.3_Missense_Mutation_p.P1094S|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P1000S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P1087S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P923S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P891S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P1094S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P1048S|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P1047S|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P892S|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P924S|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P1087S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P1094S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P1001S|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1087					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTCTTTGCACCTGGAGGGCG	0.597													18	47					0	0	0	0	T	184044351	C	T	184044351	3	4	317	1	0	0	0	0	1	0	0	0	5074	507	18	4	3337	4	EIF4G1	3	184044351	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	4463	184044351	13978079	109	56442											
PCYT1A	5130	broad.mit.edu	37	chr3	195965715	195965715	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctgctggggctctgcttCgggctgatggcctgcagcat	3	11	15	12	1	1	1	0	1	1	0	2	1	1	1	1	4	5	7	1	4	0	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:195965715C>T	ENST00000292823.2	-	10	1120	c.948G>A	c.(946-948)ccG>ccA	p.P316P	PCYT1A_ENST00000419333.1_Silent_p.P316P|PCYT1A_ENST00000431016.1_Silent_p.P316P	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	316						cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	GGCTCTGCTTCGGGCTGATGG	0.587													3	12					0	0	0	0	T	195965715	C	T	195965715	2	4	317	1	0	0	0	0	0	0	0	1	11681	871	31	1		1	PCYT1A	3	195965715	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	11921364	195965715	2056715	110	56443											
PCGF3	10336	broad.mit.edu	37	chr4	755157	755157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaggcgaccgtcttgcatCtgaagaagttcatcgccaaa	11	8	9	13	3	3	2	1	1	2	1	4	3	3	2	3	1	1	2	3	1	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:755157C>G	ENST00000362003.5	+	9	948	c.553C>G	c.(553-555)Ctg>Gtg	p.L185V	PCGF3_ENST00000521023.2_Missense_Mutation_p.L151V|PCGF3_ENST00000505655.2_Missense_Mutation_p.L185V|PCGF3_ENST00000470161.2_Missense_Mutation_p.L185V	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CGTCTTGCATCTGAAGAAGTT	0.488													18	51					0	0	0	0	G	755157	C	G	755157	3	3	317	1	0	0	0	0	1	0	0	0	11647	912	32	2	575	2	PCGF3	4	755157	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08		755157	190399119	111	56444											
GAK	2580	broad.mit.edu	37	chr4	844827	844827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggaggagaagccttgattgGacaacagatcttcaaagtcg	13	9	12	7	1	2	3	1	1	1	2	3	6	2	5	1	3	2	0	1	3	3	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:844827G>A	ENST00000314167.4	-	26	3664	c.3554C>T	c.(3553-3555)tCc>tTc	p.S1185F	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.S1106F	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1185					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCCTTGATTGGACAACAGATC	0.468													25	75					0	0	0	0	A	844827	G	A	844827	3	1	317	1	0	0	0	0	1	0	0	0	6244	1174	41	2	393	2	GAK	4	844827	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	89670	844827	190309449	112	56445											
RGS12	6002	broad.mit.edu	37	chr4	3317944	3317944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgcccattgcctgggccgtCgcccccaagggtgcggagtg	5	6	15	15	4	0	0	0	0	0	0	1	1	0	1	5	3	2	0	5	3	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:3317944C>T	ENST00000336727.3	+	2	951	c.47C>T	c.(46-48)tCg>tTg	p.S16L	RGS12_ENST00000344733.5_Missense_Mutation_p.S16L|RGS12_ENST00000382788.3_Missense_Mutation_p.S16L|RGS12_ENST00000543385.1_Missense_Mutation_p.S16L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	16						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTGGGCCGTCGCCCCCAAGG	0.607													25	94					0	0	0	0	T	3317944	C	T	3317944	3	4	317	1	0	0	0	0	1	0	0	0	13378	893	31	1	49	1	RGS12	4	3317944	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2473117	3317944	187836332	113	56446											
SLC34A2	10568	broad.mit.edu	37	chr4	25676182	25676182	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcacgctgggctccaacatCggcaccaccaccaccgccat	9	5	7	20	3	1	0	1	0	0	0	3	0	2	0	6	2	1	3	6	2	1	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:25676182C>T	ENST00000382051.3	+	12	1439	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	SLC34A2_ENST00000503434.1_Silent_p.I462I|SLC34A2_ENST00000504570.1_Silent_p.I462I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	463					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTCCAACATCGGCACCACCA	0.592			T	ROS1	NSCLC								15	58					0	0	0	0	T	25676182	C	T	25676182	2	4	317	1	0	0	0	0	0	0	0	1	14656	874	31	1		1	SLC34A2	4	25676182	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	22358238	25676182	165478094	114	56447											
SLC10A4	201780	broad.mit.edu	37	chr4	48490651	48490651	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactgtatgtctggaaacaGgtagtcagaatgtgcagctc	11	10	13	7	0	2	1	1	0	1	1	3	3	2	3	0	3	3	4	0	3	4	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:48490651G>C	ENST00000273861.4	+	3	1228	c.1009G>C	c.(1009-1011)Ggt>Cgt	p.G337R		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	337						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						TCTGGAAACAGGTAGTCAGAA	0.443													36	95					0	0	0	0	C	48490651	G	C	48490651	3	2	317	1	0	0	0	0	1	0	0	0	14464	1000	35	4	1019	4	SLC10A4	4	48490651	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	22814469	48490651	142663625	115	56448											
LPHN3	23284	broad.mit.edu	37	chr4	62679581	62679581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgccaattcaccttgactCtgagctagaaagaccctctg	10	10	7	14	1	3	4	1	2	2	2	4	4	4	4	4	0	1	1	4	0	3	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:62679581C>G	ENST00000512091.1	+	8	1997	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C	LPHN3_ENST00000504896.1_Missense_Mutation_p.S417C|LPHN3_ENST00000514157.1_Missense_Mutation_p.S417C|LPHN3_ENST00000507625.1_Missense_Mutation_p.S485C|LPHN3_ENST00000509896.1_Missense_Mutation_p.S485C|LPHN3_ENST00000506746.1_Missense_Mutation_p.S485C|LPHN3_ENST00000508946.1_Missense_Mutation_p.S417C|LPHN3_ENST00000545650.1_Missense_Mutation_p.S417C|LPHN3_ENST00000506720.1_Missense_Mutation_p.S485C|LPHN3_ENST00000514996.1_Missense_Mutation_p.S417C|LPHN3_ENST00000514591.1_Missense_Mutation_p.S417C|LPHN3_ENST00000507164.1_Missense_Mutation_p.S485C|LPHN3_ENST00000508693.1_Missense_Mutation_p.S485C|LPHN3_ENST00000506700.1_Missense_Mutation_p.S417C|LPHN3_ENST00000511324.1_Missense_Mutation_p.S485C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	417					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						caccttgactctgagctagaa	0.383													7	40					0	0	0	0	G	62679581	C	G	62679581	3	3	317	1	0	0	0	0	1	0	0	0	8981	913	32	2	1272	2	LPHN3	4	62679581	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	14188930	62679581	128474695	116	56449											
SULT1E1	6783	broad.mit.edu	37	chr4	70710039	70710039	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaggaaatgtatcaatttTatcacctcttttctgatatc	11	17	4	9	0	4	1	2	1	2	0	6	2	5	2	2	1	0	1	2	1	5	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:70710039T>C	ENST00000226444.3	-	7	724	c.612A>G	c.(610-612)atA>atG	p.I204M		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	204					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTATCAATTTTATCACCTCTT	0.343													8	63					0	0	0	0	C	70710039	T	C	70710039	3	2	317	1	0	0	0	0	1	0	0	0	15470	1744	61	5	280	5	SULT1E1	4	70710039	Missense_Mutation	SNP	T	TCGA-CV-7427-01A-11D-2078-08	8030458	70710039	120444237	117	56450											
CXCL3	2921	broad.mit.edu	37	chr4	74904074	74904074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttggatgttcttgaggtGaattccctgcagtgtctgca	7	15	11	8	0	2	2	0	2	2	0	3	3	3	3	1	2	2	3	1	2	1	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:74904074G>A	ENST00000296026.4	-	2	234	c.157C>T	c.(157-159)Cac>Tac	p.H53Y	CXCL3_ENST00000511669.1_5'UTR	NM_002090.2	NP_002081.2	P19876	CXCL3_HUMAN	chemokine (C-X-C motif) ligand 3	53					immune response|inflammatory response|neutrophil chemotaxis	extracellular space	chemokine activity			central_nervous_system(1)|endometrium(1)	2	Breast(15;0.00612)		all cancers(17;0.00273)|Lung(101;0.196)			TTCTTGAGGTGAATTCCCTGC	0.607													15	61					0	0	0	0	A	74904074	G	A	74904074	3	1	317	1	0	0	0	0	1	0	0	0	4118	1290	45	2	178	2	CXCL3	4	74904074	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4194035	74904074	116250202	118	56451											
KIAA1109	84162	broad.mit.edu	37	chr4	123109097	123109097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagccgcaaactctgtgcatCaactttgatgatgctttctt	9	14	7	11	1	3	2	1	2	2	0	3	2	3	2	1	0	5	3	1	0	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:123109097C>G	ENST00000264501.4	+	9	1048	c.675C>G	c.(673-675)atC>atG	p.I225M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.I225M|KIAA1109_ENST00000455637.1_Missense_Mutation_p.I225M			Q2LD37	K1109_HUMAN	KIAA1109	225					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTCTGTGCATCAACTTTGATG	0.358													13	52					0	0	0	0	G	123109097	C	G	123109097	3	3	317	1	0	0	0	0	1	0	0	0	8259	816	29	2	701	2	KIAA1109	4	123109097	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	48205023	123109097	68045179	119	56452											
SPATA5	166378	broad.mit.edu	37	chr4	123844435	123844435	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggcaacctccgggactctGacggtgaccaacttattaga	10	8	11	12	3	1	3	0	2	1	1	2	4	2	4	3	3	2	1	3	3	4	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:123844435G>A	ENST00000274008.3	+	1	207	c.138G>A	c.(136-138)ctG>ctA	p.L46L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	46					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CCGGGACTCTGACGGTGACCA	0.587													35	84					0	0	0	0	A	123844435	G	A	123844435	2	1	317	1	0	0	0	0	0	0	0	1	15101	1277	45	2		2	SPATA5	4	123844435	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	735338	123844435	67309841	120	56453											
FAT4	79633	broad.mit.edu	37	chr4	126238052	126238052	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagacaccgccaccgactcGgacatcggctcaaacggtgt	10	7	10	14	5	1	1	1	0	0	1	3	3	1	2	3	3	1	1	3	3	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:126238052G>T	ENST00000394329.3	+	1	499	c.486G>T	c.(484-486)tcG>tcT	p.S162S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	162	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCACCGACTCGGACATCGGCT	0.617											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	24					0.00909568	0.00926412	1	0	T	126238052	G	T	126238052	2	4	317	1	0	0	0	0	0	0	0	1	5737	1103	39	3		3	FAT4	4	126238052	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2393617	126238052	64916224	121	56454											
SETD7	80854	broad.mit.edu	37	chr4	140468192	140468192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgtgcggtaatccgtcatCgtccaggtgccctggagaaa	8	8	12	13	4	1	1	1	0	0	1	4	2	3	1	4	3	2	1	4	3	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:140468192C>T	ENST00000274031.3	-	2	688	c.52G>A	c.(52-54)Gat>Aat	p.D18N	SETD7_ENST00000506866.2_Missense_Mutation_p.D18N|SETD7_ENST00000404104.3_Missense_Mutation_p.D18N|SETD7_ENST00000406354.1_5'UTR	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	18					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AATCCGTCATCGTCCAGGTGC	0.522													13	40					0	0	0	0	T	140468192	C	T	140468192	3	4	317	1	0	0	0	0	1	0	0	0	14223	884	31	1	1076	1	SETD7	4	140468192	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	14230140	140468192	50686084	122	56455											
MAP9	79884	broad.mit.edu	37	chr4	156281397	156281397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcaactgttctgtcatCatccataatcagttccgctt	9	15	6	11	1	5	0	4	0	1	0	7	1	7	1	2	1	1	3	2	1	2	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:156281397C>A	ENST00000311277.4	-	7	1236	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000594492.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.D301Y|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000596754.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	325					cell division|mitosis	cytoplasm|microtubule|spindle		p.D325Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GTTCTGTCATCATCCATAATC	0.378													13	42					9.31168e-06	9.72982e-06	1	0	A	156281397	C	A	156281397	3	1	317	1	0	0	0	0	1	0	0	0	9339	826	29	2	1002	2	MAP9	4	156281397	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	15813205	156281397	34872879	123	56456											
MTNR1A	4543	broad.mit.edu	37	chr4	187455394	187455394	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatcctcgggtcgtactggaGagtccctgcacggaggttgg	6	9	16	10	3	0	1	0	0	0	1	4	4	2	2	2	5	2	3	2	5	1	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:187455394G>C	ENST00000307161.5	-	2	703	c.502C>G	c.(502-504)Ctc>Gtc	p.L168V	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	168					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TCGTACTGGAGAGTCCCTGCA	0.602													13	60					0	0	0	0	C	187455394	G	C	187455394	3	2	317	1	0	0	0	0	1	0	0	0	10021	942	33	2	554	2	MTNR1A	4	187455394	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	31173997	187455394	3698882	124	56457											
FAT1	2195	broad.mit.edu	37	chr4	187549762	187549763	+	Frame_Shift_Ins	INS	-	-	A																															gtggatctctactgctctgcINSagagtgtagattagtttgtt																										TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:187549762_187549763insA	ENST00000441802.2	-	8	4687_4688	c.4478_4479insT	c.(4477-4479)ccafs	p.P1493fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1493	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TACTGCTCTGCAGAGTGTAGAT	0.416										HNSCC(5;0.00058)			12	48	---	---	---	---					A	187549763	-	A	187549762	7	5	317	1	0	1	1	0	0	0	0	0	5734	697	25	0	9367	0	FAT1	4	187549762	Frame_Shift_Ins	INS	-	TCGA-CV-7427-01A-11D-2078-08	94368	187549762	3604514	125	56458											
FAT1	2195	broad.mit.edu	37	chr4	187628329	187628329	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctcatgctgcagctctcGatccagagggcgtgcgatgt	6	10	14	11	3	2	1	1	0	1	1	4	3	3	1	1	1	5	4	1	1	0	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:187628329G>A	ENST00000441802.2	-	2	2862	c.2653C>T	c.(2653-2655)Cga>Tga	p.R885*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	885	Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCAGCTCTCGATCCAGAGGG	0.512										HNSCC(5;0.00058)			13	64					0	0	0	0	A	187628329	G	A	187628329	4	1	317	1	0	0	0	0	0	1	0	0	5734	1066	37	1	11217	1	FAT1	4	187628329	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	78567	187628329	3525947	126	56459											
TARS	6897	broad.mit.edu	37	chr5	33455163	33455163	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctattatgacatgtacctCgaagaagggtaagccatcaa	14	11	8	8	1	2	2	1	1	1	1	3	3	2	2	2	1	2	2	2	1	7	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:33455163C>T	ENST00000265112.3	+	5	878	c.567C>T	c.(565-567)ctC>ctT	p.L189L	TARS_ENST00000455217.2_Silent_p.L222L|TARS_ENST00000414361.2_Silent_p.L68L|TARS_ENST00000502553.1_Silent_p.L189L|TARS_ENST00000541634.1_Silent_p.L85L	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	189					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	ACATGTACCTCGAAGAAGGGT	0.388													13	27					0	0	0	0	T	33455163	C	T	33455163	2	4	317	1	0	0	0	0	0	0	0	1	15650	871	31	1		1	TARS	5	33455163	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08		33455163	147460097	127	56460											
NIPBL	25836	broad.mit.edu	37	chr5	36976261	36976261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgcccactaaatgctgctCaatgtttgtcgcagcaagaa	12	9	8	12	2	1	1	1	0	0	1	2	1	1	1	2	0	3	5	2	0	5	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:36976261C>G	ENST00000282516.8	+	9	1751	c.1252C>G	c.(1252-1254)Caa>Gaa	p.Q418E	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.Q418E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	418	Gln-rich.				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAATGCTGCTCAATGTTTGTC	0.413													21	58					0	0	0	0	G	36976261	C	G	36976261	3	3	317	1	0	0	0	0	1	0	0	0	10498	827	29	2	1282	2	NIPBL	5	36976261	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	3521098	36976261	143938999	128	56461											
BDP1	55814	broad.mit.edu	37	chr5	70841044	70841044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttacacttcctgtgccaGaggtaaaagaatgtacagta	13	11	9	8	0	0	2	0	0	0	2	1	2	1	2	2	1	4	4	2	1	6	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:70841044G>A	ENST00000358731.4	+	32	7005	c.6742G>A	c.(6742-6744)Gag>Aag	p.E2248K	BDP1_ENST00000380675.2_Missense_Mutation_p.E384K	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2248					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCCTGTGCCAGAGGTAAAAGA	0.373													12	48					0	0	0	0	A	70841044	G	A	70841044	3	1	317	1	0	0	0	0	1	0	0	0	1399	943	33	2	6868	2	BDP1	5	70841044	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	33864783	70841044	110074216	129	56462											
PPIP5K2	23262	broad.mit.edu	37	chr5	102472491	102472491	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaggaatccatttgtaatCaatgacttgaatatgcagta	14	13	7	7	0	2	2	2	2	0	0	3	3	3	3	1	1	1	3	1	1	6	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:102472491C>T	ENST00000321521.9	+	4	939	c.366C>T	c.(364-366)atC>atT	p.I122I	PPIP5K2_ENST00000358359.3_Silent_p.I122I|PPIP5K2_ENST00000414217.1_Silent_p.I122I|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	122					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CATTTGTAATCAATGACTTGA	0.338													42	135					0	0	0	0	T	102472491	C	T	102472491	2	4	317	1	0	0	0	0	0	0	0	1	12409	816	29	2		2	PPIP5K2	5	102472491	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	31631447	102472491	78442769	130	56463											
FBXL17	64839	broad.mit.edu	37	chr5	107700445	107700445	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctaaaatttacctgcttGagtccttcatcagtgagttt	10	16	7	8	0	2	2	2	2	0	0	3	2	3	2	2	0	3	3	2	0	3	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:107700445G>C	ENST00000542267.1	-	3	1774	c.1368C>G	c.(1366-1368)ctC>ctG	p.L456L	FBXL17_ENST00000359660.5_Silent_p.L58L|FBXL17_ENST00000496714.1_Silent_p.L58L	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	456										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TTACCTGCTTGAGTCCTTCAT	0.343													19	60					0	0	0	0	C	107700445	G	C	107700445	2	2	317	1	0	0	0	0	0	0	0	1	5758	1277	45	2		2	FBXL17	5	107700445	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	5227954	107700445	73214815	131	56464											
MCC	4163	broad.mit.edu	37	chr5	112418582	112418582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccgttctgtttccacctCaaactctctaatcttgcttt	7	16	4	14	1	4	0	1	0	3	0	6	0	5	0	3	0	3	3	3	0	2	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:112418582C>T	ENST00000302475.4	-	9	1752	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	MCC_ENST00000515367.2_Missense_Mutation_p.E334K|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.E587K	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	397					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTTTCCACCTCAAACTCTCTA	0.478													23	81					0	0	0	0	T	112418582	C	T	112418582	3	4	317	1	0	0	0	0	1	0	0	0	9442	835	29	2	1336	2	MCC	5	112418582	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	4718137	112418582	68496678	132	56465											
FBN2	2201	broad.mit.edu	37	chr5	127637197	127637197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaaaggaactgcactcatCtatgtctgtaagcaaacagg	17	8	8	8	0	3	0	1	0	2	0	3	1	3	1	0	2	4	3	0	2	7	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:127637197C>G	ENST00000508053.1	-	53	6897	c.5923G>C	c.(5923-5925)Gat>Cat	p.D1975H	FBN2_ENST00000262464.4_Missense_Mutation_p.D1975H			P35556	FBN2_HUMAN	fibrillin 2	1975	EGF-like 33; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGCACTCATCTATGTCTGTA	0.353													26	73					0	0	0	0	G	127637197	C	G	127637197	3	3	317	1	0	0	0	0	1	0	0	0	5748	913	32	2	2891	2	FBN2	5	127637197	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	15218615	127637197	53278063	133	56466											
HSPA4	3308	broad.mit.edu	37	chr5	132439956	132439956	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttgtagccctataatttCaaagcccaaacccaaagtgg	14	10	6	11	0	1	0	1	0	0	0	1	0	1	0	3	1	4	1	3	1	7	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:132439956C>G	ENST00000304858.2	+	19	2640	c.2351C>G	c.(2350-2352)tCa>tGa	p.S784*		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	784					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTATAATTTCAAAGCCCAAA	0.433													11	41					0	0	0	0	G	132439956	C	G	132439956	4	3	317	1	0	0	0	0	0	1	0	0	7464	838	29	2	2425	2	HSPA4	5	132439956	Nonsense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	4802759	132439956	48475304	134	56467											
SLC23A1	9963	broad.mit.edu	37	chr5	138707763	138707763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctggaattgcaatctgatCttttgaacttgaagaaaatc	13	15	7	6	0	3	4	0	3	3	1	4	5	3	5	0	1	2	1	0	1	6	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:138707763C>T	ENST00000353963.3	-	14	1779	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	SLC23A1_ENST00000348729.3_Missense_Mutation_p.D577N	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	577					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GCAATCTGATCTTTTGAACTT	0.398													37	138					0	0	0	0	T	138707763	C	T	138707763	3	4	317	1	0	0	0	0	1	0	0	0	14550	913	32	2	71	2	SLC23A1	5	138707763	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	6267807	138707763	42207497	135	56468											
UBE2D2	7322	broad.mit.edu	37	chr5	138979957	138979957	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttctttcttttttctgtagGaattgaatgatctggcacgg	7	19	9	6	1	4	2	0	2	4	0	4	3	4	3	0	3	0	2	0	3	3	7			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:138979957G>C	ENST00000398733.3	+	2	651	c.24_splice	c.e2-1	p.E9_splice	UBE2D2_ENST00000253815.2_5'UTR|UBE2D2_ENST00000511725.1_5'UTR|UBE2D2_ENST00000505548.1_5'UTR	NM_003339.2	NP_003330.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	9					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|protein binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTTCTGTAGGAATTGAATGA	0.348													9	24					0	0	0	0	C	138979957	G	C	138979957	5	2	317	1	0	0	0	0	0	0	1	0	16945	1188	41	2	31	2	UBE2D2	5	138979957	Splice_Site	SNP	G	TCGA-CV-7427-01A-11D-2078-08	272194	138979957	41935303	136	56469											
PCDHB15	56121	broad.mit.edu	37	chr5	140625334	140625334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggggagctagccgagcgggGagcccgggtagtttctgagg	6	6	21	8	3	1	1	0	1	1	0	1	4	1	3	2	6	4	3	2	6	2	3	rs2907300		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:140625334G>A	ENST00000231173.3	+	1	188	c.188G>A	c.(187-189)gGa>gAa	p.G63E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		63	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGAGCGGGGAGCCCGGGTA	0.552													11	40					0	0	0	0	A	140625334	G	A	140625334	3	1	317	1	0	0	0	0	1	0	0	0	11611	1174	41	2	190	2	PCDHB15	5	140625334	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1645377	140625334	40289926	137	56470											
PCDHGA5	56110	broad.mit.edu	37	chr5	140743929	140743929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctaggggctggggctgcgGagagctgctgctgcccttca	5	8	16	12	1	1	1	1	0	0	1	1	2	1	1	2	5	5	5	2	5	1	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:140743929G>A	ENST00000518069.1	+	1	32	c.32G>A	c.(31-33)gGa>gAa	p.G11E	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCTGCGGAGAGCTGCTG	0.582													6	20					0	0	0	0	A	140743929	G	A	140743929	3	1	317	1	0	0	0	0	1	0	0	0	11628	1174	41	2	34	2	PCDHGA5	5	140743929	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	118595	140743929	40171331	138	56471											
SPINK9	643394	broad.mit.edu	37	chr5	147715230	147715230	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgacacttgcaaccatgttCagtgagtatctctgataata	12	13	7	9	0	2	3	1	3	1	0	3	3	2	3	1	0	2	3	1	0	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:147715230C>T	ENST00000377906.1	+	1	109	c.55_splice	c.e1+1	p.F18_splice	SPINK9_ENST00000511717.2_Intron|RP11-373N22.3_ENST00000501695.3_RNA	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	18						extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCATGTTCAGTGAGTATC	0.433													10	80					0	0	0	0	T	147715230	C	T	147715230	5	4	317	1	0	0	0	0	0	0	1	0	15156	840	29	2	56	2	SPINK9	5	147715230	Splice_Site	SNP	C	TCGA-CV-7427-01A-11D-2078-08	6971301	147715230	33200030	139	56472											
ZNF300	91975	broad.mit.edu	37	chr5	150275396	150275396	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagaatgtctttccacattCagtacattcataaggttttt	11	16	7	7	0	3	1	2	0	1	1	4	2	4	1	1	2	1	2	1	2	3	7			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:150275396C>G	ENST00000446148.2	-	7	1880	c.1453G>C	c.(1453-1455)Gaa>Caa	p.E485Q	ZNF300_ENST00000394226.2_Missense_Mutation_p.E469Q|ZNF300_ENST00000418587.2_Missense_Mutation_p.E433Q|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.E469Q	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCCACATTCAGTACATTCA	0.413													12	45					0	0	0	0	G	150275396	C	G	150275396	3	3	317	1	0	0	0	0	1	0	0	0	17926	835	29	2	413	2	ZNF300	5	150275396	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2560166	150275396	30639864	140	56473											
GRIA1	2890	broad.mit.edu	37	chr5	153026577	153026577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctccttttgtggggccCtccacgtctgcttcattacg	4	14	9	14	2	2	1	1	1	1	0	4	1	4	1	4	2	2	1	4	2	1	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:153026577C>T	ENST00000285900.5	+	3	653	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Missense_Mutation_p.L114F|GRIA1_ENST00000521843.2_Missense_Mutation_p.L35F|GRIA1_ENST00000448073.4_Missense_Mutation_p.L114F|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000340592.5_Missense_Mutation_p.L104F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	104					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTGTGGGGCCCTCCACGTCTG	0.498													29	82					0	0	0	0	T	153026577	C	T	153026577	3	4	317	1	0	0	0	0	1	0	0	0	6817	681	24	4	320	4	GRIA1	5	153026577	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2751181	153026577	27888683	141	56474											
FAM114A2	10827	broad.mit.edu	37	chr5	153390822	153390822	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaagtttctctggtttGgaggaaacgtgcagctggga	8	11	15	7	1	1	0	0	0	1	0	2	3	1	3	0	5	3	5	0	5	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:153390822G>A	ENST00000351797.4	-	9	1048	c.972C>T	c.(970-972)tcC>tcT	p.S324S	FAM114A2_ENST00000520667.1_Silent_p.S324S|FAM114A2_ENST00000522858.1_Silent_p.S324S|FAM114A2_ENST00000520313.1_Silent_p.S254S	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	324							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TCTCTGGTTTGGAGGAAACGT	0.368													11	53					0	0	0	0	A	153390822	G	A	153390822	2	1	317	1	0	0	0	0	0	0	0	1	5445	1335	47	4		4	FAM114A2	5	153390822	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	364245	153390822	27524438	142	56475											
KIF4B	285643	broad.mit.edu	37	chr5	154397020	154397020	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcgaaacatggagcaacaGaataccaacaaaataagcct	20	5	7	9	1	0	1	0	0	0	1	1	3	0	2	2	1	6	1	2	1	8	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:154397020G>C	ENST00000435029.4	+	1	3761	c.3601G>C	c.(3601-3603)Gaa>Caa	p.E1201Q		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1201	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGAGCAACAGAATACCAACA	0.507													7	25					0	0	0	0	C	154397020	G	C	154397020	3	2	317	1	0	0	0	0	1	0	0	0	8355	943	33	2	3603	2	KIF4B	5	154397020	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1006198	154397020	26518240	143	56476											
GABRA1	2554	broad.mit.edu	37	chr5	161322869	161322869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcaaaagtgtggttccaGaaaaggtaaatgctttaatg	15	11	11	4	0	0	1	0	0	0	1	1	1	1	1	1	3	1	4	1	3	7	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:161322869G>A	ENST00000428797.2	+	10	1409	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	GABRA1_ENST00000023897.6_Missense_Mutation_p.E352K|GABRA1_ENST00000444819.1_Missense_Mutation_p.E352K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E352K|GABRA1_ENST00000420560.1_Missense_Mutation_p.E352K|GABRA1_ENST00000393943.4_Missense_Mutation_p.E352K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	352					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGTGGTTCCAGAAAAGGTAAA	0.393													26	62					0	0	0	0	A	161322869	G	A	161322869	3	1	317	1	0	0	0	0	1	0	0	0	6208	943	33	2	1084	2	GABRA1	5	161322869	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	6925849	161322869	19592391	144	56477											
GABRA1	2554	broad.mit.edu	37	chr5	161324342	161324342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaagaatagccttcccgCtgctatttggaatctttaac	10	14	7	10	1	2	1	1	0	1	1	3	2	3	2	2	1	3	2	2	1	6	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:161324342C>A	ENST00000428797.2	+	11	1640	c.1285C>A	c.(1285-1287)Ctg>Atg	p.L429M	GABRA1_ENST00000023897.6_Missense_Mutation_p.L429M|GABRA1_ENST00000444819.1_Missense_Mutation_p.L429M|GABRA1_ENST00000437025.2_Missense_Mutation_p.L429M|GABRA1_ENST00000420560.1_Missense_Mutation_p.L429M|GABRA1_ENST00000393943.4_Missense_Mutation_p.L429M	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	429					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AGCCTTCCCGCTGCTATTTGG	0.428													24	101					7.87624e-14	8.44881e-14	1	0	A	161324342	C	A	161324342	3	1	317	1	0	0	0	0	1	0	0	0	6208	796	28	4	1319	4	GABRA1	5	161324342	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1473	161324342	19590918	145	56478											
DRD1	1812	broad.mit.edu	37	chr5	174869513	174869513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagcttattacagaggatGagatggcatatgtcctgctg	13	11	11	6	0	0	2	0	1	0	2	1	4	1	3	1	2	3	3	1	2	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:174869513G>A	ENST00000393752.2	-	2	1582	c.590C>T	c.(589-591)tCa>tTa	p.S197L		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	197					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TACAGAGGATGAGATGGCATA	0.502													13	84					0	0	0	0	A	174869513	G	A	174869513	3	1	317	1	0	0	0	0	1	0	0	0	4792	1294	45	2	754	2	DRD1	5	174869513	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	13545171	174869513	6045747	146	56479											
GPRIN1	114787	broad.mit.edu	37	chr5	176026823	176026823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggagccaggccgggtcttCagcagtgtccatctgccctc	5	9	12	15	1	3	0	1	0	2	0	5	1	4	1	4	3	3	1	4	3	0	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:176026823C>T	ENST00000303991.4	-	2	190	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	5						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGGGTCTTCAGCAGTGTCC	0.612													3	16					0	0	0	0	T	176026823	C	T	176026823	3	4	317	1	0	0	0	0	1	0	0	0	6779	835	29	2	3017	2	GPRIN1	5	176026823	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1157310	176026823	4888437	147	56480											
NSD1	64324	broad.mit.edu	37	chr5	176709547	176709547	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcgctatgctcaagaacatGatatcactaatttctatatg	13	15	5	8	1	3	2	2	1	1	1	4	2	3	2	0	0	2	2	0	0	7	7			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:176709547G>C	ENST00000439151.2	+	19	6019	c.5974G>C	c.(5974-5976)Gat>Cat	p.D1992H	NSD1_ENST00000361032.4_Missense_Mutation_p.D1889H|NSD1_ENST00000347982.4_Missense_Mutation_p.D1723H|NSD1_ENST00000354179.4_Missense_Mutation_p.D1723H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1992	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCAAGAACATGATATCACTAA	0.378			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			30	80					0	0	0	0	C	176709547	G	C	176709547	3	2	317	1	0	0	0	0	1	0	0	0	10740	1290	45	2	6044	2	NSD1	5	176709547	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	682724	176709547	4205713	148	56481											
NSD1	64324	broad.mit.edu	37	chr5	176709577	176709577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttctatatgctcaccctaGacaaagtaagtaatgggaaa	16	11	7	7	0	2	1	1	0	1	1	2	2	2	2	1	1	1	3	1	1	7	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:176709577G>C	ENST00000439151.2	+	19	6049	c.6004G>C	c.(6004-6006)Gac>Cac	p.D2002H	NSD1_ENST00000361032.4_Missense_Mutation_p.D1899H|NSD1_ENST00000347982.4_Missense_Mutation_p.D1733H|NSD1_ENST00000354179.4_Missense_Mutation_p.D1733H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2002	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCTCACCCTAGACAAAGTAAG	0.388			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			24	65					0	0	0	0	C	176709577	G	C	176709577	3	2	317	1	0	0	0	0	1	0	0	0	10740	942	33	2	6074	2	NSD1	5	176709577	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	30	176709577	4205683	149	56482											
SERPINB6	5269	broad.mit.edu	37	chr6	2954925	2954925	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcttggtagaatttttGgcaggaatctctaaaagact	11	14	9	7	0	2	2	0	0	2	2	3	3	2	3	0	3	1	3	0	3	5	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:2954925G>C	ENST00000380520.1	-	3	2325	c.331C>G	c.(331-333)Caa>Gaa	p.Q111E	SERPINB6_ENST00000380546.3_Missense_Mutation_p.Q111E|SERPINB6_ENST00000380529.1_Missense_Mutation_p.Q111E|SERPINB6_ENST00000380539.1_Missense_Mutation_p.Q111E|SERPINB6_ENST00000380524.1_Missense_Mutation_p.Q111E|SERPINB6_ENST00000335686.5_Missense_Mutation_p.Q111E			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	111					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TAGAATTTTTGGCAGGAATCT	0.443													12	42					0	0	0	0	C	2954925	G	C	2954925	3	2	317	1	0	0	0	0	1	0	0	0	14192	1357	47	4	815	4	SERPINB6	6	2954925	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08		2954925	168160142	150	56483											
BMP6	654	broad.mit.edu	37	chr6	7861772	7861772	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatcacggccactagcaatCtgtgggttgtgactccacag	10	9	10	12	1	2	1	1	1	1	0	3	1	3	1	2	2	1	2	2	2	2	2	rs147293908	byFrequency	TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:7861772C>G	ENST00000283147.6	+	3	1105	c.946C>G	c.(946-948)Ctg>Gtg	p.L316V		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	316					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CACTAGCAATCTGTGGGTTGT	0.502													30	88					0	0	0	0	G	7861772	C	G	7861772	3	3	317	1	0	0	0	0	1	0	0	0	1469	912	32	2	956	2	BMP6	6	7861772	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	4906847	7861772	163253295	151	56484											
TFAP2A	7020	broad.mit.edu	37	chr6	10404933	10404933	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccttgttaatagggatggcgGagacggcattgctgttggac	8	11	15	7	2	0	1	0	0	0	1	0	4	0	3	1	5	1	4	1	5	2	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:10404933G>C	ENST00000379613.3	-	4	834	c.578C>G	c.(577-579)tCc>tGc	p.S193C	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000482890.1_Missense_Mutation_p.S191C|TFAP2A_ENST00000379604.2_Missense_Mutation_p.S191C|TFAP2A_ENST00000319516.4_Missense_Mutation_p.S187C|TFAP2A_ENST00000379608.3_Missense_Mutation_p.S185C			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	191					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S191C(1)|p.S185C(1)|p.S187C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGGGATGGCGGAGACGGCATT	0.627													11	52					0	0	0	0	C	10404933	G	C	10404933	3	2	317	1	0	0	0	0	1	0	0	0	15881	1174	41	2	757	2	TFAP2A	6	10404933	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2543161	10404933	160710134	152	56485											
NRSN1	140767	broad.mit.edu	37	chr6	24145891	24145891	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgattttgtggtggtcgAcacacatgctgtccagttta	8	13	11	9	2	0	0	0	0	0	0	2	2	1	0	2	2	2	2	2	2	1	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:24145891A>G	ENST00000378491.4	+	4	606	c.305A>G	c.(304-306)gAc>gGc	p.D102G		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	102					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GTGGTGGTCGACACACATGCT	0.527													34	31					0	0	0	0	G	24145891	A	G	24145891	3	3	317	1	0	0	0	0	1	0	0	0	10733	275	10	5	311	5	NRSN1	6	24145891	Missense_Mutation	SNP	A	TCGA-CV-7427-01A-11D-2078-08	13740958	24145891	146969176	153	56486											
SLC17A3	10786	broad.mit.edu	37	chr6	25862525	25862525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcaacaggcagcacctcaGaggaatcattgagctgggat	13	7	12	9	0	3	2	3	1	0	1	3	4	3	4	1	3	3	3	1	3	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:25862525G>C	ENST00000397060.4	-	3	348	c.239C>G	c.(238-240)tCt>tGt	p.S80C	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S80C|SLC17A3_ENST00000360657.3_Missense_Mutation_p.S80C	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	80					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CAGCACCTCAGAGGAATCATT	0.428													5	64					0	0	0	0	C	25862525	G	C	25862525	3	2	317	1	0	0	0	0	1	0	0	0	14506	942	33	2	1297	2	SLC17A3	6	25862525	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1716634	25862525	145252542	154	56487											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017460	26017460	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttgggtttttttggattCttggaggatttccttgttgc	3	22	12	4	0	1	0	0	0	1	0	2	3	2	3	1	4	1	3	1	4	0	10			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:26017460C>T	ENST00000244573.3	-	1	580	c.501G>A	c.(499-501)aaG>aaA	p.K167K		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	167					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						TTTTTGGATTCTTGGAGGATT	0.473													41	156					0	0	0	0	T	26017460	C	T	26017460	2	4	317	1	0	0	0	0	0	0	0	1	7172	912	32	2		2	HIST1H1A	6	26017460	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	154935	26017460	145097607	155	56488											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225488	26225488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctccggccacgggcggcGtgaagaagccccatcgctac	7	4	14	16	6	0	2	0	1	0	1	2	2	1	2	4	3	2	2	4	3	3	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:26225488G>A	ENST00000360408.1	+	1	106	c.106G>A	c.(106-108)Gtg>Atg	p.V36M		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	36					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CACGGGCGGCGTGAAGAAGCC	0.622													31	24					0	0	0	0	A	26225488	G	A	26225488	3	1	317	1	0	0	0	0	1	0	0	0	7209	1145	40	1	108	1	HIST1H3E	6	26225488	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	208028	26225488	144889579	156	56489											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114494	27114494	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcggctgcgcttgcgcttCttgccgtccttcttctgcgc	0	15	11	15	5	3	0	0	0	3	0	4	0	4	0	2	1	5	3	2	1	0	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:27114494C>G	ENST00000396891.4	-	1	125	c.84G>C	c.(82-84)aaG>aaC	p.K28N	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.K28N	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	28					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GCTTGCGCTTCTTGCCGTCCT	0.597													20	142					0	0	0	0	G	27114494	C	G	27114494	3	3	317	1	0	0	0	0	1	0	0	0	7200	912	32	2	300	2	HIST1H2BK	6	27114494	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	889006	27114494	144000573	157	56490											
HLA-A	3105	broad.mit.edu	37	chr6	29912344	29912344	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggttctccttggagctgtGatcactggagctgtggtcgc	4	13	14	10	1	2	1	1	1	1	0	4	3	2	3	1	4	2	3	1	4	0	2	rs45513603		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:29912344G>A	ENST00000396634.1	+	7	1304	c.963G>A	c.(961-963)gtG>gtA	p.V321V	HLA-A_ENST00000376809.5_Silent_p.V321V|HLA-A_ENST00000376806.5_Silent_p.V321V|HLA-A_ENST00000376802.2_Intron			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	321					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTGGAGCTGTGATCACTGGAG	0.592									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			30	48					0	0	0	0	A	29912344	G	A	29912344	2	1	317	1	0	0	0	0	0	0	0	1	7245	1277	45	2		2	HLA-A	6	29912344	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2797850	29912344	141202723	158	56491											
NFKBIL1	4795	broad.mit.edu	37	chr6	31525604	31525604	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggaggacgagtggcaGgaagtcatggggaggtttga	10	7	20	4	1	1	1	1	1	0	0	1	7	1	5	0	7	1	3	0	7	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:31525604G>A	ENST00000376148.4	+	3	648	c.534G>A	c.(532-534)caG>caA	p.Q178Q	NFKBIL1_ENST00000376145.4_Intron	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	178					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						ACGAGTGGCAGGAAGTCATGG	0.567													4	30					0	0	0	0	A	31525604	G	A	31525604	2	1	317	1	0	0	0	0	0	0	0	1	10451	991	35	4		4	NFKBIL1	6	31525604	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1613260	31525604	139589463	159	56492											
LTB	4050	broad.mit.edu	37	chr6	31548552	31548552	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaccatatcggggtgactGatgttgacgtacaccctctc	8	11	9	13	2	1	3	0	3	1	0	4	3	2	3	3	2	1	2	3	2	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:31548552G>A	ENST00000429299.2	-	4	676	c.669C>T	c.(667-669)atC>atT	p.I223I	LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	223					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	CGGGGTGACTGATGTTGACGT	0.622													6	22					0	0	0	0	A	31548552	G	A	31548552	2	1	317	1	0	0	0	0	0	0	0	1	9134	1280	45	2		2	LTB	6	31548552	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	22948	31548552	139566515	160	56493											
TAP2	6891	broad.mit.edu	37	chr6	32782246	32782246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtggacatgaccccagctCtctcctcctgcccattcagg	7	9	8	17	0	2	1	1	1	1	0	5	2	4	2	5	2	2	1	5	2	0	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:32782246C>T	ENST00000452392.2	-	14	2488	c.2315G>A	c.(2314-2316)aGa>aAa	p.R772K	HLA-DOB_ENST00000438763.2_Missense_Mutation_p.R165K			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GACCCCAGCTCTCTCCTCCTG	0.522													29	98					0	0	0	0	T	32782246	C	T	32782246	3	4	317	1	0	0	0	0	1	0	0	0	15642	913	32	2		2	TAP2	6	32782246	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1233694	32782246	138332821	161	56494											
ZBTB22	9278	broad.mit.edu	37	chr6	33284041	33284041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcctcttgggaggaagatGagaaatcagtggactccctg	11	9	13	8	0	2	2	1	1	1	2	3	6	3	5	2	3	1	0	2	3	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:33284041G>A	ENST00000431845.2	-	2	804	c.653C>T	c.(652-654)tCa>tTa	p.S218L	ZBTB22_ENST00000418724.1_Missense_Mutation_p.S218L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGAGGAAGATGAGAAATCAGT	0.612													6	39					0	0	0	0	A	33284041	G	A	33284041	3	1	317	1	0	0	0	0	1	0	0	0	17625	1294	45	2	1255	2	ZBTB22	6	33284041	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	501795	33284041	137831026	162	56495											
TREM1	54210	broad.mit.edu	37	chr6	41250194	41250194	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctccttgggaggctggtaGatcacacactgatacagtcc	9	9	12	11	0	1	2	1	1	0	1	3	3	3	3	2	4	1	3	2	4	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:41250194G>C	ENST00000591620.1	-	2	371	c.345C>G	c.(343-345)atC>atG	p.I115M	TREM1_ENST00000589614.1_Missense_Mutation_p.I115M|TREM1_ENST00000244709.4_Missense_Mutation_p.I115M|TREM1_ENST00000334475.6_Missense_Mutation_p.I115M	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	115	Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	GAGGCTGGTAGATCACACACT	0.537													6	27					0	0	0	0	C	41250194	G	C	41250194	3	2	317	1	0	0	0	0	1	0	0	0	16565	932	33	2	371	2	TREM1	6	41250194	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	7966153	41250194	129864873	163	56496											
PRPH2	5961	broad.mit.edu	37	chr6	42666224	42666224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgacgtctgtaggtagcGcagcccaattgtaatggtca	10	9	12	10	3	2	0	1	0	1	0	2	1	2	0	1	2	3	4	1	2	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:42666224G>A	ENST00000230381.5	-	3	1089	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	284					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGTAGGTAGCGCAGCCCAATT	0.587													11	21					0	0	0	0	A	42666224	G	A	42666224	3	1	317	1	0	0	0	0	1	0	0	0	12657	1087	38	1	194	1	PRPH2	6	42666224	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1416030	42666224	128448843	164	56497											
TDRD6	221400	broad.mit.edu	37	chr6	46660213	46660213	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggctgcaataagatgtGaatttgttaaatttcaagac	14	12	10	5	1	1	3	1	1	0	2	1	4	1	3	0	1	1	3	0	1	6	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:46660213G>T	ENST00000544460.1	+	1	4602	c.4348G>T	c.(4348-4350)Gaa>Taa	p.E1450*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1450*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1450					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AATAAGATGTGAATTTGTTAA	0.383													33	109					2.5098e-30	2.72609e-30	1	0	T	46660213	G	T	46660213	4	4	317	1	0	0	0	0	0	1	0	0	15828	1291	45	2	4350	2	TDRD6	6	46660213	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	3993989	46660213	124454854	165	56498											
CRISP3	10321	broad.mit.edu	37	chr6	49704110	49704110	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatcacctcttaccatcttCagcatgtttctggcaggggg	8	13	9	11	0	5	0	2	0	3	0	5	0	5	0	2	3	2	3	2	3	2	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:49704110C>T	ENST00000433368.2	-	3	321	c.252G>A	c.(250-252)ctG>ctA	p.L84L	CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000263045.4_Silent_p.L74L|CRISP3_ENST00000371159.4_Silent_p.L92L|CRISP3_ENST00000393666.1_Silent_p.L61L	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	61					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTACCATCTTCAGCATGTTTC	0.438													43	96					0	0	0	0	T	49704110	C	T	49704110	2	4	317	1	0	0	0	0	0	0	0	1	3911	813	29	2		2	CRISP3	6	49704110	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	3043897	49704110	121410957	166	56499											
PGK2	5232	broad.mit.edu	37	chr6	49754450	49754450	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcttggaaagtgatgctcGgaaggcttctattttatctg	9	15	11	6	1	2	1	0	1	2	0	3	3	2	3	0	3	2	3	0	3	5	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:49754450G>A	ENST00000304801.3	-	1	603	c.451C>T	c.(451-453)Cga>Tga	p.R151*		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	151					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGTGATGCTCGGAAGGCTTCT	0.502													20	52					0	0	0	0	A	49754450	G	A	49754450	4	1	317	1	0	0	0	0	0	1	0	0	11863	1124	39	1	806	1	PGK2	6	49754450	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	50340	49754450	121360617	167	56500											
IL17A	3605	broad.mit.edu	37	chr6	52053869	52053869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagccgcaatgaggaccctGagagatatccctctgtgatc	10	8	11	12	1	1	4	0	3	1	1	3	6	2	5	3	1	1	2	3	1	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:52053869G>C	ENST00000340057.1	+	3	292	c.247G>C	c.(247-249)Gag>Cag	p.E83Q		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	83					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					TGAGGACCCTGAGAGATATCC	0.502													8	28					0	0	0	0	C	52053869	G	C	52053869	3	2	317	1	0	0	0	0	1	0	0	0	7687	1291	45	2	257	2	IL17A	6	52053869	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2299419	52053869	119061198	168	56501											
GSTA1	2938	broad.mit.edu	37	chr6	52659022	52659022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catacgggcagaaggaggatCatttcacccaaatctgctat	13	9	9	10	1	3	1	2	0	1	1	3	3	3	3	1	3	2	2	1	3	4	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:52659022C>T	ENST00000334575.5	-	5	470	c.315G>A	c.(313-315)atG>atA	p.M105I	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	105	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GAAGGAGGATCATTTCACCCA	0.378													43	108					0	0	0	0	T	52659022	C	T	52659022	3	4	317	1	0	0	0	0	1	0	0	0	6880	826	29	2	365	2	GSTA1	6	52659022	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	605153	52659022	118456045	169	56502											
FAM83B	222584	broad.mit.edu	37	chr6	54806332	54806332	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtaacagttagcccatctCaagagataaatgctccacca	15	9	6	11	0	1	1	1	0	1	1	3	2	2	1	3	0	3	3	3	0	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:54806332C>G	ENST00000306858.7	+	5	2679	c.2563C>G	c.(2563-2565)Caa>Gaa	p.Q855E		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	855										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TAGCCCATCTCAAGAGATAAA	0.438													7	34					0	0	0	0	G	54806332	C	G	54806332	3	3	317	1	0	0	0	0	1	0	0	0	5680	827	29	2	2577	2	FAM83B	6	54806332	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2147310	54806332	116308735	170	56503											
REV3L	5980	broad.mit.edu	37	chr6	111688626	111688626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaagggggaattactggaGaatcaggggagctataacta	14	7	14	6	0	1	1	1	0	0	1	1	4	1	3	1	5	3	1	1	5	7	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:111688626G>A	ENST00000435970.1	-	16	6947	c.6131C>T	c.(6130-6132)tCt>tTt	p.S2044F	REV3L_ENST00000368805.1_Missense_Mutation_p.S2122F|REV3L_ENST00000358835.3_Missense_Mutation_p.S2122F|REV3L_ENST00000368802.3_Missense_Mutation_p.S2122F			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2122					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATTACTGGAGAATCAGGGGA	0.438								DNA polymerases (catalytic subunits)					19	173					0	0	0	0	A	111688626	G	A	111688626	3	1	317	1	0	0	0	0	1	0	0	0	13322	942	33	2	3103	2	REV3L	6	111688626	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	56882294	111688626	59426441	171	56504											
AIG1	51390	broad.mit.edu	37	chr6	143486275	143486275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacagagagatgatatacccGaagctgctggataattttat	14	11	10	6	1	0	3	0	1	0	2	0	7	0	4	1	1	3	2	1	1	5	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:143486275G>A	ENST00000494282.2	+	3	379	c.354G>A	c.(352-354)ccG>ccA	p.P118P	AIG1_ENST00000275235.4_Silent_p.P118P|AIG1_ENST00000344492.5_Silent_p.P66P|AIG1_ENST00000367598.5_Silent_p.P118P|AIG1_ENST00000357847.4_Silent_p.P118P			Q9NVV5	AIG1_HUMAN	androgen-induced 1	118						integral to membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		TGATATACCCGAAGCTGCTGG	0.358													22	100					0	0	0	0	A	143486275	G	A	143486275	2	1	317	1	0	0	0	0	0	0	0	1	429	1045	37	1		1	AIG1	6	143486275	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	31797649	143486275	27628792	172	56505											
WTAP	9589	broad.mit.edu	37	chr6	160164726	160164726	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactggcctaagagagtctGaagaaaaactaaagcaacaa	20	6	8	7	0	1	3	0	1	1	2	1	4	1	3	1	1	4	1	1	1	9	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:160164726G>T	ENST00000358372.4	+	5	1932	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	WTAP_ENST00000337387.4_Nonsense_Mutation_p.E59*|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	59					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AAGAGAGTCTGAAGAAAAACT	0.363													9	33					2.17888e-05	2.26888e-05	1	0	T	160164726	G	T	160164726	4	4	317	1	0	0	0	0	0	1	0	0	17505	1291	45	2	189	2	WTAP	6	160164726	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	16678451	160164726	10950341	173	56506											
THBS2	7058	broad.mit.edu	37	chr6	169623478	169623478	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagttcctgaagtctgtctCactgatggcattgttttcag	8	15	10	8	0	3	2	2	2	2	0	5	3	4	2	1	1	0	3	1	1	2	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:169623478C>G	ENST00000366787.3	-	19	3115	c.2866G>C	c.(2866-2868)Gag>Cag	p.E956Q	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	956					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AAGTCTGTCTCACTGATGGCA	0.468													13	67					0	0	0	0	G	169623478	C	G	169623478	3	3	317	1	0	0	0	0	1	0	0	0	15948	835	29	2	672	2	THBS2	6	169623478	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	9458752	169623478	1491589	174	56507											
TBP	6908	broad.mit.edu	37	chr6	170873691	170873691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctaaagaccattgcacttCgtgcccgaaacgccgaatat	13	8	7	13	4	0	1	0	0	0	1	1	3	0	1	4	0	3	1	4	0	5	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:170873691C>T	ENST00000392092.2	+	4	835	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	TBP_ENST00000540980.1_Missense_Mutation_p.R166C|TBP_ENST00000230354.6_Missense_Mutation_p.R186C	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	186					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		CATTGCACTTCGTGCCCGAAA	0.318													11	34					0	0	0	0	T	170873691	C	T	170873691	3	4	317	1	0	0	0	0	1	0	0	0	15738	884	31	1	566	1	TBP	6	170873691	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1250213	170873691	241376	175	56508											
EIF2AK1	27102	broad.mit.edu	37	chr7	6089666	6089666	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccccattttgataaacgtCtggcaaagtactataaaaag	16	10	7	8	1	1	1	0	1	1	0	1	1	1	1	2	1	3	2	2	1	8	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:6089666C>G	ENST00000199389.6	-	3	434	c.288G>C	c.(286-288)caG>caC	p.Q96H	EIF2AK1_ENST00000536084.1_Intron	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	96					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	p.Q96H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TGATAAACGTCTGGCAAAGTA	0.318													9	35					0	0	0	0	G	6089666	C	G	6089666	3	3	317	1	0	0	0	0	1	0	0	0	5032	912	32	2	1656	2	EIF2AK1	7	6089666	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08		6089666	153048997	176	56509											
RAC1	5879	broad.mit.edu	37	chr7	6426892	6426892	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttacacaaccaatgcatttCctggagaatatatccctact	13	12	5	11	0	0	1	0	0	0	1	2	2	2	1	3	1	4	2	3	1	7	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:6426892C>A	ENST00000348035.4	+	2	298	c.85C>A	c.(85-87)Cct>Act	p.P29T	RAC1_ENST00000356142.4_Missense_Mutation_p.P29T|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353													20	54					9.95505e-16	1.06977e-15	1	0	A	6426892	C	A	6426892	3	1	317	1	0	0	0	0	1	0	0	0	13056	855	30	2	91	2	RAC1	7	6426892	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	337226	6426892	152711771	177	56510											
TMEM106B	54664	broad.mit.edu	37	chr7	12254482	12254482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgcattcaagcaaagaaGatgcttatgatggagtcaca	14	11	9	7	0	2	3	2	1	0	2	2	4	2	4	0	1	3	3	0	1	4	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:12254482G>A	ENST00000396667.2	+	3	368	c.46G>A	c.(46-48)Gat>Aat	p.D16N	TMEM106B_ENST00000396668.3_Missense_Mutation_p.D16N	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	16						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AAGCAAAGAAGATGCTTATGA	0.353													11	31					0	0	0	0	A	12254482	G	A	12254482	3	1	317	1	0	0	0	0	1	0	0	0	16115	942	33	2	48	2	TMEM106B	7	12254482	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	5827590	12254482	146884181	178	56511											
DNAH11	8701	broad.mit.edu	37	chr7	21678666	21678666	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttgacattctctcaaaaGgagctcagcctaaacaggta	14	10	7	10	0	3	1	2	1	1	0	4	2	3	2	1	2	4	2	1	2	6	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:21678666G>T	ENST00000328843.6	+	28	4973	c.4942G>T	c.(4942-4944)Gga>Tga	p.G1648*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.G1643*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1648	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTCTCAAAAGGAGCTCAGCC	0.398									Kartagener syndrome				9	47					3.09899e-07	3.26067e-07	1	0	T	21678666	G	T	21678666	4	4	317	1	0	0	0	0	0	1	0	0	4636	1001	35	4	5052	4	DNAH11	7	21678666	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	9424184	21678666	137459997	179	56512											
STK31	56164	broad.mit.edu	37	chr7	23768842	23768842	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggactacacattccttctGatcaagaagttacccagttt	11	12	8	10	0	2	2	1	1	1	1	3	3	3	3	2	2	2	2	2	2	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:23768842G>C	ENST00000354639.3	+	6	852	c.388G>C	c.(388-390)Gat>Cat	p.D130H	STK31_ENST00000433467.2_Missense_Mutation_p.D153H|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.D153H|STK31_ENST00000428484.1_Missense_Mutation_p.D130H	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	153	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CATTCCTTCTGATCAAGAAGT	0.328													10	22					0	0	0	0	C	23768842	G	C	23768842	3	2	317	1	0	0	0	0	1	0	0	0	15386	1290	45	2	479	2	STK31	7	23768842	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2090176	23768842	135369821	180	56513											
CHN2	1124	broad.mit.edu	37	chr7	29552289	29552289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaccctgaccaccctgcatGatatgcggtaccaaaagctg	11	7	9	14	1	0	2	0	2	0	0	0	2	0	2	4	1	4	4	4	1	4	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:29552289G>A	ENST00000222792.6	+	13	1875	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	CHN2_ENST00000439711.2_Missense_Mutation_p.D267N|CHN2_ENST00000424025.2_Missense_Mutation_p.D268N|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000421775.2_Missense_Mutation_p.D255N|CHN2_ENST00000495789.2_Missense_Mutation_p.D462N|CHN2_ENST00000409041.4_Missense_Mutation_p.D313N|CHN2_ENST00000539389.1_Missense_Mutation_p.D305N|CHN2_ENST00000539406.1_Missense_Mutation_p.D524N|CHN2_ENST00000435288.2_Missense_Mutation_p.D173N|CHN2_ENST00000546235.1_Missense_Mutation_p.D434N	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	449	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CACCCTGCATGATATGCGGTA	0.463													13	49					0	0	0	0	A	29552289	G	A	29552289	3	1	317	1	0	0	0	0	1	0	0	0	3392	1290	45	2	1563	2	CHN2	7	29552289	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	5783447	29552289	129586374	181	56514											
CCDC129	223075	broad.mit.edu	37	chr7	31614170	31614170	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagcattcctgaatggctgGaattttgggagatagatcca	12	11	11	7	0	0	3	0	1	0	2	2	5	2	4	2	3	1	2	2	3	3	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:31614170G>T	ENST00000319386.3	+	7	1405	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000451887.2_Nonsense_Mutation_p.E164*|CCDC129_ENST00000407970.3_Nonsense_Mutation_p.E138*|CCDC129_ENST00000409210.1_Nonsense_Mutation_p.E46*			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	138										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGAATGGCTGGAATTTTGGGA	0.438													29	102					4.02929e-09	4.29933e-09	1	0	T	31614170	G	T	31614170	4	4	317	1	0	0	0	0	0	1	0	0	2789	1175	41	2	434	2	CCDC129	7	31614170	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2061881	31614170	127524493	182	56515											
AVL9	23080	broad.mit.edu	37	chr7	32612918	32612918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctagtgaggcacgtgactgaGaatcgggatgacgtcttcct	9	10	13	9	3	1	4	0	4	1	1	3	6	2	5	1	2	0	1	1	2	2	2	rs139006890		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:32612918G>C	ENST00000318709.4	+	12	1679	c.1458G>C	c.(1456-1458)gaG>gaC	p.E486D	AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Missense_Mutation_p.E486D	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	486						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACGTGACTGAGAATCGGGATG	0.557													14	36					0	0	0	0	C	32612918	G	C	32612918	3	2	317	1	0	0	0	0	1	0	0	0	1232	933	33	2	1504	2	AVL9	7	32612918	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	998748	32612918	126525745	183	56516											
UPP1	7378	broad.mit.edu	37	chr7	48147942	48147942	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcatcaagaagaaactGagcaaggcctgagcgctgcc	13	7	10	11	1	2	4	2	2	0	2	2	4	2	4	2	1	5	2	2	1	5	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:48147942G>T	ENST00000331803.4	+	10	1544	c.921G>T	c.(919-921)ctG>ctT	p.L307L	UPP1_ENST00000395564.4_Silent_p.L307L|UPP1_ENST00000429491.2_Silent_p.L170L|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Silent_p.L307L			Q16831	UPP1_HUMAN	uridine phosphorylase 1	307					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						AGAAGAAACTGAGCAAGGCCT	0.567													11	30					0.000673444	0.000690565	1	0	T	48147942	G	T	48147942	2	4	317	1	0	0	0	0	0	0	0	1	17108	1277	45	2		2	UPP1	7	48147942	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	15535024	48147942	110990721	184	56517											
EGFR	1956	broad.mit.edu	37	chr7	55241688	55241688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttgaaggaaactgaattCaaaaagatcaaagtgctggg	17	9	10	5	0	3	3	2	2	1	1	3	4	3	4	0	2	2	1	0	2	6	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:55241688C>G	ENST00000275493.2	+	18	2313	c.2136C>G	c.(2134-2136)ttC>ttG	p.F712L	EGFR_ENST00000455089.1_Missense_Mutation_p.F667L|EGFR_ENST00000454757.2_Missense_Mutation_p.F659L|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	712	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.F712F(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAACTGAATTCAAAAAGATCA	0.562		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			16	49					0	0	0	0	G	55241688	C	G	55241688	3	3	317	1	0	0	0	0	1	0	0	0	5003	825	29	2	2470	2	EGFR	7	55241688	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	7093746	55241688	103896975	185	56518											
PHTF2	57157	broad.mit.edu	37	chr7	77558594	77558594	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacagatgtggaaaatcatCagattaatccatgtgtgaaa	17	10	9	5	0	2	4	2	1	0	3	3	5	3	5	1	1	0	0	1	1	4	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:77558594C>G	ENST00000416283.2	+	10	1312	c.1186C>G	c.(1186-1188)Cag>Gag	p.Q396E	PHTF2_ENST00000422959.2_Missense_Mutation_p.Q396E|PHTF2_ENST00000248550.7_Missense_Mutation_p.Q430E|PHTF2_ENST00000307305.8_Missense_Mutation_p.Q392E|PHTF2_ENST00000424760.1_Missense_Mutation_p.Q392E|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000275575.7_Missense_Mutation_p.Q392E	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GGAAAATCATCAGATTAATCC	0.388													5	14					0	0	0	0	G	77558594	C	G	77558594	3	3	317	1	0	0	0	0	1	0	0	0	11935	827	29	2	1278	2	PHTF2	7	77558594	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	22316906	77558594	81580069	186	56519											
CACNA2D1	781	broad.mit.edu	37	chr7	81598239	81598239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcccttgaatatatatttCtacagctttgcttaccataa	11	18	3	9	0	1	1	0	1	1	0	2	1	2	1	2	0	4	2	2	0	7	10			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:81598239C>T	ENST00000356860.3	-	29	2697	c.2359G>A	c.(2359-2361)Gaa>Aaa	p.E787K	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.E799K|CACNA2D1_ENST00000535308.1_Intron	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	799						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATATATATTTCTACAGCTTTG	0.269													16	76					0	0	0	0	T	81598239	C	T	81598239	3	4	317	1	0	0	0	0	1	0	0	0	2573	922	32	2	960	2	CACNA2D1	7	81598239	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	4039645	81598239	77540424	187	56520											
PCLO	27445	broad.mit.edu	37	chr7	82586178	82586178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atattccatcggaagaatatCccgtgtcgctcagaccttgg	10	11	9	11	3	1	2	1	0	0	2	5	3	3	3	3	2	0	1	3	2	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:82586178C>T	ENST00000423517.2	-	5	4428	c.4091G>A	c.(4090-4092)gGa>gAa	p.G1364E	PCLO_ENST00000333891.8_Missense_Mutation_p.G1364E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1295					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAAGAATATCCCGTGTCGCT	0.423													6	24					0	0	0	0	T	82586178	C	T	82586178	3	4	317	1	0	0	0	0	1	0	0	0	11654	855	30	2	11438	2	PCLO	7	82586178	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	987939	82586178	76552485	188	56521											
ABCB1	5243	broad.mit.edu	37	chr7	87179592	87179592	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgcccactctgcaccttCaggttcagacccttcaagat	8	11	7	15	0	5	2	3	0	2	2	5	2	5	2	3	1	2	2	3	1	1	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:87179592C>G	ENST00000265724.3	-	13	1662	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	ABCB1_ENST00000543898.1_Silent_p.L351L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	415	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCTGCACCTTCAGGTTCAGAC	0.502													8	35					0	0	0	0	G	87179592	C	G	87179592	2	3	317	1	0	0	0	0	0	0	0	1	40	813	29	2		2	ABCB1	7	87179592	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	4593414	87179592	71959071	189	56522											
ARPC1B	10095	broad.mit.edu	37	chr7	98992106	98992106	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttgaaggacctcaagatCaaatgacctgtgaggaatat	14	9	10	8	0	2	4	2	3	0	1	2	6	2	6	3	2	0	0	3	2	5	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:98992106C>G	ENST00000451682.1	+	12	1422	c.1113C>G	c.(1111-1113)atC>atG	p.I371M	PDAP1_ENST00000496335.1_Intron|ARPC1B_ENST00000252725.5_Missense_Mutation_p.I371M			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	371					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ACCTCAAGATCAAATGACCTG	0.572													15	52					0	0	0	0	G	98992106	C	G	98992106	3	3	317	1	0	0	0	0	1	0	0	0	974	816	29	2	1147	2	ARPC1B	7	98992106	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	11812514	98992106	60146557	190	56523											
TRIM4	89122	broad.mit.edu	37	chr7	99489924	99489924	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcgctgtagaaggagacattCccagtcccacgatccaggta	11	7	11	12	2	0	2	0	0	0	2	3	4	3	2	3	2	0	3	3	2	3	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:99489924C>T	ENST00000355947.2	-	7	1494	c.1365G>A	c.(1363-1365)ggG>ggA	p.G455G	TRIM4_ENST00000349062.2_Silent_p.G429G	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	455	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGGAGACATTCCCAGTCCCAC	0.557													23	102					0	0	0	0	T	99489924	C	T	99489924	2	4	317	1	0	0	0	0	0	0	0	1	16609	842	30	2		2	TRIM4	7	99489924	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	497818	99489924	59648739	191	56524											
SRPK2	6733	broad.mit.edu	37	chr7	104783666	104783666	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttctattattttcctttCagcttctcgctccaattctt	5	22	2	12	1	5	0	1	0	4	0	8	0	7	0	2	0	1	2	2	0	3	10			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:104783666C>G	ENST00000357311.3	-	9	1063	c.892G>C	c.(892-894)Gaa>Caa	p.E298Q	SRPK2_ENST00000489828.1_Missense_Mutation_p.E298Q|SRPK2_ENST00000393651.3_Missense_Mutation_p.E309Q	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	298	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATTTTCCTTTCAGCTTCTCGC	0.408													18	81					0	0	0	0	G	104783666	C	G	104783666	3	3	317	1	0	0	0	0	1	0	0	0	15250	835	29	2	1202	2	SRPK2	7	104783666	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	5293742	104783666	54354997	192	56525											
NDUFA5	4698	broad.mit.edu	37	chr7	123185709	123185709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgccttgaagttggtcttCtaattttttaacatctggtt	8	18	7	8	1	3	1	0	1	3	0	3	1	3	1	2	2	1	2	2	2	3	8			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:123185709C>T	ENST00000471770.1	-	4	339	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	NDUFA5_ENST00000467117.1_5'UTR|NDUFA5_ENST00000355749.2_Missense_Mutation_p.E69K			Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	69					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|urinary_tract(1)	2					NADH(DB00157)	AGTTGGTCTTCTAATTTTTTA	0.313													13	51					0	0	0	0	T	123185709	C	T	123185709	3	4	317	1	0	0	0	0	1	0	0	0	10338	922	32	2	153	2	NDUFA5	7	123185709	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	18402043	123185709	35952954	193	56526											
TMEM209	84928	broad.mit.edu	37	chr7	129841908	129841908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatttgggttgctgccagatCatgtggaggcgtagtctgta	7	13	15	6	1	2	1	1	0	1	1	2	3	2	2	1	3	2	4	1	3	2	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:129841908C>T	ENST00000397622.2	-	5	477	c.355G>A	c.(355-357)Gat>Aat	p.D119N	TMEM209_ENST00000473456.1_Missense_Mutation_p.D119N|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.D118N|TMEM209_ENST00000462753.1_Missense_Mutation_p.D118N	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	119						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GCTGCCAGATCATGTGGAGGC	0.428													7	29					0	0	0	0	T	129841908	C	T	129841908	3	4	317	1	0	0	0	0	1	0	0	0	16228	826	29	2	1374	2	TMEM209	7	129841908	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	6656199	129841908	29296755	194	56527											
WEE2	494551	broad.mit.edu	37	chr7	141408625	141408625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcctattgtgaggagactGagattgaagggcagaagaaa	14	10	13	4	0	0	6	0	3	0	4	1	8	1	6	1	2	0	1	1	2	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:141408625G>A	ENST00000397541.2	+	1	473	c.67G>A	c.(67-69)Gag>Aag	p.E23K	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	23					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TGAGGAGACTGAGATTGAAGG	0.443													24	73					0	0	0	0	A	141408625	G	A	141408625	3	1	317	1	0	0	0	0	1	0	0	0	17441	1291	45	2	69	2	WEE2	7	141408625	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	11566717	141408625	17730038	195	56528											
TRPV5	56302	broad.mit.edu	37	chr7	142605909	142605909	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggtcatcctccttgtctGagttcttgaacacttccaca	7	14	6	14	0	3	2	1	2	2	0	6	2	6	2	4	1	1	1	4	1	1	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:142605909G>C	ENST00000265310.1	-	15	2309	c.1961C>G	c.(1960-1962)tCa>tGa	p.S654*		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	654					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCTTGTCTGAGTTCTTGAA	0.522													9	34					0	0	0	0	C	142605909	G	C	142605909	4	2	317	1	0	0	0	0	0	1	0	0	16694	1294	45	2	232	2	TRPV5	7	142605909	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1197284	142605909	16532754	196	56529											
SSPO	23145	broad.mit.edu	37	chr7	149482281	149482281	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggcagtggtacctgccCaacgccaccatccaggaaga	11	5	12	13	1	0	1	0	0	0	1	1	2	1	2	5	3	3	2	5	3	3	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:149482281C>G	ENST00000378016.2	+	0	2955							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTACCTGCCCAACGCCACCA	0.612													11	50					0	0	0	0	G	149482281	C	G	149482281	1	3	317	0	1	0	0	0	0	0	0	0	15279	581	21	4		4	SSPO	7	149482281	RNA	SNP	C	TCGA-CV-7427-01A-11D-2078-08	6876372	149482281	9656382	197	56530											
GBX1	2636	broad.mit.edu	37	chr7	150845999	150845999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgtcggcttttccccccagGagctgtgacccctgctgtca	4	10	10	17	2	1	1	1	1	0	0	3	2	2	2	6	2	2	3	6	2	0	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:150845999G>A	ENST00000297537.4	-	2	768	c.769C>T	c.(769-771)Cct>Tct	p.P257S		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	257						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCCCCCAGGAGCTGTGACC	0.582													26	69					0	0	0	0	A	150845999	G	A	150845999	3	1	317	1	0	0	0	0	1	0	0	0	6329	1174	41	2	325	2	GBX1	7	150845999	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1363718	150845999	8292664	198	56531											
XKR6	286046	broad.mit.edu	37	chr8	10755509	10755509	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatagaggagtggtccgtCtcgatatcgaatgcctactg	9	11	11	10	3	2	1	1	0	1	1	5	4	3	2	2	2	2	0	2	2	4	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:10755509C>G	ENST00000416569.2	-	3	1905	c.1879G>C	c.(1879-1881)Gac>Cac	p.D627H	XKR6_ENST00000304437.2_Missense_Mutation_p.D348H	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	627						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGTGGTCCGTCTCGATATCGA	0.463													20	34					0	0	0	0	G	10755509	C	G	10755509	3	3	317	1	0	0	0	0	1	0	0	0	17531	913	32	2	50	2	XKR6	8	10755509	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08		10755509	135608513	199	56532											
FGL1	2267	broad.mit.edu	37	chr8	17731930	17731930	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtccatcctcctccatcGgacatgtcacaataaacaga	14	8	5	14	1	1	1	1	0	0	1	6	2	5	2	4	1	1	0	4	1	3	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:17731930G>A	ENST00000398056.2	-	6	1160	c.345C>T	c.(343-345)tcC>tcT	p.S115S	FGL1_ENST00000427924.1_Silent_p.S115S|FGL1_ENST00000381840.2_Silent_p.S115S|FGL1_ENST00000522444.1_Silent_p.S115S|FGL1_ENST00000398054.1_Silent_p.S115S|FGL1_ENST00000518650.1_Silent_p.S115S|FGL1_ENST00000381841.2_Silent_p.S115S			Q08830	FGL1_HUMAN	fibrinogen-like 1	115	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CTCCTCCATCGGACATGTCAC	0.383													29	44					0	0	0	0	A	17731930	G	A	17731930	2	1	317	1	0	0	0	0	0	0	0	1	5917	1103	39	1		1	FGL1	8	17731930	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	6976421	17731930	128632092	200	56533											
NKX3-1	4824	broad.mit.edu	37	chr8	23538827	23538827	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagggaggcccgggagaaGgcctcctctttcagggccgg	7	5	16	13	2	2	1	1	0	1	1	3	3	3	2	5	6	0	0	5	6	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:23538827G>C	ENST00000380871.4	-	2	649	c.612C>G	c.(610-612)gcC>gcG	p.A204A	NKX3-1_ENST00000523261.1_Silent_p.A129A	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	204					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CCCGGGAGAAGGCCTCCTCTT	0.562													4	44					0	0	0	0	C	23538827	G	C	23538827	2	2	317	1	0	0	0	0	0	0	0	1	10525	987	35	4		4	NKX3-1	8	23538827	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	5806897	23538827	122825195	201	56534											
GPR124	25960	broad.mit.edu	37	chr8	37687368	37687368	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccctctgcccaccctgcaGggacttgggcaccgagttcc	6	7	10	18	1	1	0	0	0	1	0	2	2	2	1	6	2	2	3	6	2	0	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:37687368G>T	ENST00000315215.7	+	6	917		c.e6-1		GPR124_ENST00000412232.2_Splice_Site			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCACCCTGCAGGGACTTGGGC	0.667													11	39					5.50884e-06	5.76617e-06	1	0	T	37687368	G	T	37687368	5	4	317	1	0	0	0	0	0	0	1	0	6687	1014	35	4	555	4	GPR124	8	37687368	Splice_Site	SNP	G	TCGA-CV-7427-01A-11D-2078-08	14148541	37687368	108676654	202	56535											
SNAI2	6591	broad.mit.edu	37	chr8	49832516	49832516	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaacgccttgccgcagatCttgcaaacacaaggtaatgt	14	8	9	10	2	1	1	0	0	1	1	1	2	1	1	2	1	4	3	2	1	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:49832516C>G	ENST00000396822.1	-	3	921	c.564G>C	c.(562-564)aaG>aaC	p.K188N	SNAI2_ENST00000020945.1_Missense_Mutation_p.K188N			O43623	SNAI2_HUMAN	snail family zinc finger 2	188					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TGCCGCAGATCTTGCAAACAC	0.458													9	72					0	0	0	0	G	49832516	C	G	49832516	3	3	317	1	0	0	0	0	1	0	0	0	14915	912	32	2	250	2	SNAI2	8	49832516	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	12145148	49832516	96531506	203	56536											
SGK3	23678	broad.mit.edu	37	chr8	67759505	67759505	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaagtttgaggccaggagtGagtcttacagcctggtccat	9	11	12	9	0	1	2	0	2	1	0	2	3	2	3	3	3	2	1	3	3	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:67759505G>C	ENST00000396596.1	+	15	1366	c.1152G>C	c.(1150-1152)gtG>gtC	p.V384V	SGK3_ENST00000522398.1_Silent_p.V384V|SGK3_ENST00000345714.4_Silent_p.V384V|SGK3_ENST00000521198.2_Silent_p.V384V|C8orf44-SGK3_ENST00000519289.1_Silent_p.V384V|SGK3_ENST00000520976.1_Silent_p.V352V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	384	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGCCAGGAGTGAGTCTTACAG	0.408													46	56					0	0	0	0	C	67759505	G	C	67759505	2	2	317	1	0	0	0	0	0	0	0	1	14299	1277	45	2		2	SGK3	8	67759505	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	17926989	67759505	78604517	204	56537											
CSPP1	79848	broad.mit.edu	37	chr8	68005835	68005835	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttctcaggggtaaggaaGaatccagtgaaaagttcagg	14	9	13	5	0	2	2	2	1	1	1	4	3	3	3	1	4	0	3	1	4	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:68005835G>C	ENST00000262210.5	+	5	500	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	192						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GGGTAAGGAAGAATCCAGTGA	0.338													31	40					0	0	0	0	C	68005835	G	C	68005835	3	2	317	1	0	0	0	0	1	0	0	0	3994	943	33	2	600	2	CSPP1	8	68005835	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	246330	68005835	78358187	205	56538											
C8orf34	116328	broad.mit.edu	37	chr8	69633646	69633646	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaggagggtgacgaatttGagaaagcatctaaactaaca	16	8	12	5	1	1	2	0	2	1	1	1	6	1	4	0	3	3	1	0	3	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:69633646G>C	ENST00000337103.4	+	9	2637	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	C8orf34_ENST00000325233.3_Missense_Mutation_p.E118Q|C8orf34_ENST00000539993.1_Missense_Mutation_p.E374Q|C8orf34_ENST00000518698.1_Missense_Mutation_p.E460Q			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	374					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGACGAATTTGAGAAAGCATC	0.274													12	20					0	0	0	0	C	69633646	G	C	69633646	3	2	317	1	0	0	0	0	1	0	0	0	2446	1291	45	2	1079	2	C8orf34	8	69633646	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1627811	69633646	76730376	206	56539											
ZFHX4	79776	broad.mit.edu	37	chr8	77766385	77766385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaaacctgaatatcccGcagaaaagccaaagcagagt	17	5	7	12	1	0	3	0	1	0	2	2	3	2	3	4	0	3	2	4	0	7	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:77766385G>A	ENST00000521891.2	+	10	7676	c.7228G>A	c.(7228-7230)Gca>Aca	p.A2410T	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2365T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2365T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2384T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2365	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A2394T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAATATCCCGCAGAAAAGCC	0.567										HNSCC(33;0.089)			3	12					0	0	0	0	A	77766385	G	A	77766385	3	1	317	1	0	0	0	0	1	0	0	0	17730	1087	38	1	7262	1	ZFHX4	8	77766385	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	8132739	77766385	68597637	207	56540											
PAG1	55824	broad.mit.edu	37	chr8	81899695	81899695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggctgaacatctccttgtCtgaaggctgaaaacaaaaac	15	8	8	10	1	2	3	0	3	2	0	3	3	2	3	1	2	3	2	1	2	6	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:81899695C>G	ENST00000220597.4	-	6	894	c.184G>C	c.(184-186)Gac>Cac	p.D62H		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	62					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			ATCTCCTTGTCTGAAGGCTGa	0.448													7	66					0	0	0	0	G	81899695	C	G	81899695	3	3	317	1	0	0	0	0	1	0	0	0	11459	913	32	2	1130	2	PAG1	8	81899695	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	4133310	81899695	64464327	208	56541											
RBM12B	389677	broad.mit.edu	37	chr8	94746486	94746486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccggaaatgctcctggggtGactgcctgaagtcctcctca	7	10	11	13	1	1	2	1	2	0	0	5	3	5	3	5	3	2	1	5	3	2	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:94746486G>A	ENST00000399300.2	-	3	2366	c.2153C>T	c.(2152-2154)tCa>tTa	p.S718L	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	718							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTCCTGGGGTGACTGCCTGAA	0.627													7	162					0	0	0	0	A	94746486	G	A	94746486	3	1	317	1	0	0	0	0	1	0	0	0	13196	1294	45	2	856	2	RBM12B	8	94746486	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	12846791	94746486	51617536	209	56542											
PTDSS1	9791	broad.mit.edu	37	chr8	97299316	97299316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatttcgagcaggttaaatCtctaatgtattggctagatc	12	14	9	6	1	1	1	0	0	1	1	4	3	1	1	0	2	1	4	0	2	6	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:97299316C>T	ENST00000517309.1	+	4	709	c.383C>T	c.(382-384)tCt>tTt	p.S128F	PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	128					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CAGGTTAAATCTCTAATGTAT	0.433													31	185					0	0	0	0	T	97299316	C	T	97299316	3	4	317	1	0	0	0	0	1	0	0	0	12815	913	32	2	397	2	PTDSS1	8	97299316	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2552830	97299316	49064706	210	56543											
VPS13B	157680	broad.mit.edu	37	chr8	100779029	100779029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagcttggaatactgggatGaactccagaaggtttttgtt	10	14	12	5	0	0	2	0	1	0	1	1	4	1	4	1	3	3	4	1	3	5	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:100779029G>A	ENST00000358544.2	+	40	7264	c.7153G>A	c.(7153-7155)Gaa>Aaa	p.E2385K	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E2360K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2385					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATACTGGGATGAACTCCAGAA	0.318													14	36					0	0	0	0	A	100779029	G	A	100779029	3	1	317	1	0	0	0	0	1	0	0	0	17286	1291	45	2	7501	2	VPS13B	8	100779029	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	3479713	100779029	45584993	211	56544											
FZD6	8323	broad.mit.edu	37	chr8	104337587	104337587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaaatttatgattcgaattgGagtcttcagcggcttgtatc	10	15	10	6	2	2	1	1	1	1	0	4	4	2	2	0	2	1	2	0	2	4	7			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:104337587G>C	ENST00000358755.4	+	4	1570	c.1253G>C	c.(1252-1254)gGa>gCa	p.G418A	FZD6_ENST00000523739.1_Missense_Mutation_p.G386A|FZD6_ENST00000540287.1_Missense_Mutation_p.G113A|FZD6_ENST00000522566.1_Missense_Mutation_p.G418A	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	418					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ATTCGAATTGGAGTCTTCAGC	0.403													26	157					0	0	0	0	C	104337587	G	C	104337587	3	2	317	1	0	0	0	0	1	0	0	0	6182	1174	41	2	1263	2	FZD6	8	104337587	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	3558558	104337587	42026435	212	56545											
TAF2	6873	broad.mit.edu	37	chr8	120809951	120809951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacttcaacataagcctcatCaatgaagacagtcttaaaac	17	9	4	11	0	4	2	3	1	1	1	4	2	4	2	1	0	3	0	1	0	6	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:120809951C>T	ENST00000378164.2	-	7	1226	c.928G>A	c.(928-930)Gat>Aat	p.D310N		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	310					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TAAGCCTCATCAATGAAGACA	0.353													6	75					0	0	0	0	T	120809951	C	T	120809951	3	4	317	1	0	0	0	0	1	0	0	0	15615	826	29	2	2751	2	TAF2	8	120809951	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	16472364	120809951	25554071	213	56546											
SNTB1	6641	broad.mit.edu	37	chr8	121823703	121823703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttctccttgccccccttGatgctgatccccagcccgcc	3	12	7	19	1	1	2	0	2	1	0	3	2	2	2	8	0	3	2	8	0	0	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:121823703G>C	ENST00000395601.3	-	2	795	c.381C>G	c.(379-381)atC>atG	p.I127M	SNTB1_ENST00000517992.1_Missense_Mutation_p.I127M|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	127	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGCCCCCCTTGATGCTGATCC	0.632													10	20					0	0	0	0	C	121823703	G	C	121823703	3	2	317	1	0	0	0	0	1	0	0	0	14960	1280	45	2	1263	2	SNTB1	8	121823703	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1013752	121823703	24540319	214	56547											
FOXD4	2298	broad.mit.edu	37	chr9	117889	117889	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaaactctgaggggtcGctcgggccgccgccgccctc	4	6	14	17	5	1	1	0	1	1	0	4	1	1	1	5	3	2	1	5	3	1	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:117889G>A	ENST00000382500.2	-	1	528	c.231C>T	c.(229-231)agC>agT	p.S77S		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	77					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGAGGGGTCGCTCGGGCCGC	0.706													26	105					0	0	0	0	A	117889	G	A	117889	2	1	317	1	0	0	0	0	0	0	0	1	6044	1078	38	1		1	FOXD4	9	117889	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08		117889	141095542	215	56548											
SLC24A2	25769	broad.mit.edu	37	chr9	19619622	19619622	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtgtatcatgagttggaaGatgctattcctcatgagact	10	14	11	6	0	2	3	2	2	0	2	3	5	3	4	1	1	1	3	1	1	3	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:19619622G>C	ENST00000341998.2	-	3	1099	c.1038C>G	c.(1036-1038)atC>atG	p.I346M	SLC24A2_ENST00000286344.3_Missense_Mutation_p.I346M	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	346					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TGAGTTGGAAGATGCTATTCC	0.507													16	105					0	0	0	0	C	19619622	G	C	19619622	3	2	317	1	0	0	0	0	1	0	0	0	14554	932	33	2	979	2	SLC24A2	9	19619622	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	19501733	19619622	121593809	216	56549											
IFNA8	3445	broad.mit.edu	37	chr9	21409280	21409280	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcacagcctgggtaacagGagggccttgatactcctggc	9	8	12	12	0	1	1	1	1	0	0	2	2	2	2	3	4	3	1	3	4	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:21409280G>A	ENST00000380205.1	+	1	135	c.105G>A	c.(103-105)agG>agA	p.R35R		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	35					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		TGGGTAACAGGAGGGCCTTGA	0.498													30	85					0	0	0	0	A	21409280	G	A	21409280	2	1	317	1	0	0	0	0	0	0	0	1	7596	1165	41	2		2	IFNA8	9	21409280	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1789658	21409280	119804151	217	56550											
DNAJA1	3301	broad.mit.edu	37	chr9	33038791	33038791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatgagatggaccaagtaGaactggtggactttgatcca	12	10	12	7	0	0	4	0	3	0	2	1	7	1	6	2	3	1	1	2	3	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:33038791G>A	ENST00000330899.4	+	9	1267	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	DNAJA1_ENST00000544625.1_Missense_Mutation_p.E205K	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	362					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		GGACCAAGTAGAACTGGTGGA	0.468													9	46					0	0	0	0	A	33038791	G	A	33038791	3	1	317	1	0	0	0	0	1	0	0	0	4647	943	33	2	1114	2	DNAJA1	9	33038791	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	11629511	33038791	108174640	218	56551											
CCDC107	203260	broad.mit.edu	37	chr9	35660981	35660981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttctgtttaaaggaggacGaggaggagattggtgacagt	12	10	15	4	1	1	2	0	1	1	1	1	7	1	5	0	5	0	1	0	5	2	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:35660981G>A	ENST00000426546.2	+	5	715	c.649G>A	c.(649-651)Gag>Aag	p.E217K	CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000327351.2_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.E190K|CCDC107_ENST00000378406.1_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	217						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AAAGGAGGACGAGGAGGAGAT	0.557													19	91					0	0	0	0	A	35660981	G	A	35660981	3	1	317	1	0	0	0	0	1	0	0	0	2767	1059	37	1	667	1	CCDC107	9	35660981	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2622190	35660981	105552450	219	56552											
POLR1E	64425	broad.mit.edu	37	chr9	37486584	37486584	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgggtcaggacccgagcttCcttgccatccccattctgac	6	11	9	15	1	2	1	1	1	1	0	4	3	4	2	5	2	2	1	5	2	0	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:37486584C>T	ENST00000377792.3	+	1	435	c.147C>T	c.(145-147)ttC>ttT	p.F49F	POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	49					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		ACCCGAGCTTCCTTGCCATCC	0.582													9	11					0	0	0	0	T	37486584	C	T	37486584	2	4	317	1	0	0	0	0	0	0	0	1	12285	870	30	2		2	POLR1E	9	37486584	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1825603	37486584	103726847	220	56553											
TRPM6	140803	broad.mit.edu	37	chr9	77354741	77354741	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaaaacttgtcccggcttGagaatgtcatcctcagacca	12	10	8	11	1	2	3	2	2	0	2	4	4	4	3	3	1	1	1	3	1	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:77354741G>A	ENST00000451710.3	-	33	5634	c.5397C>T	c.(5395-5397)ctC>ctT	p.L1799L	TRPM6_ENST00000360774.1_Silent_p.L1795L|TRPM6_ENST00000376872.3_Silent_p.L750L|TRPM6_ENST00000376864.4_Silent_p.L1799L|TRPM6_ENST00000376871.3_Silent_p.L632L|TRPM6_ENST00000361255.3_Silent_p.L1790L|TRPM6_ENST00000449912.2_Silent_p.L1790L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1795	Alpha-type protein kinase.				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						GTCCCGGCTTGAGAATGTCAT	0.507													53	71					0	0	0	0	A	77354741	G	A	77354741	2	1	317	1	0	0	0	0	0	0	0	1	16685	1277	45	2		2	TRPM6	9	77354741	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	39868157	77354741	63858690	221	56554											
COL15A1	1306	broad.mit.edu	37	chr9	101765755	101765755	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttagcagcaacagcagcGgggctggccgaggtgcccat	10	6	14	11	2	0	0	0	0	0	0	0	1	0	0	2	4	6	4	2	4	3	2	rs142437738		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:101765755G>C	ENST00000375001.3	+	8	1509	c.1086G>C	c.(1084-1086)gcG>gcC	p.A362A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	362	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAACAGCAGCGGGGCTGGCCG	0.582													16	76					0	0	0	0	C	101765755	G	C	101765755	2	2	317	1	0	0	0	0	0	0	0	1	3702	1103	39	3		3	COL15A1	9	101765755	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	24411014	101765755	39447676	222	56555											
ERP44	23071	broad.mit.edu	37	chr9	102769866	102769866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaatctgtctacctttttCacttattaattgccgagcta	9	18	4	10	1	3	0	1	0	2	0	3	1	3	0	2	0	3	1	2	0	5	8			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:102769866C>T	ENST00000262455.6	-	9	1067	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	290					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						CTACCTTTTTCACTTATTAAT	0.338													12	42					0	0	0	0	T	102769866	C	T	102769866	3	4	317	1	0	0	0	0	1	0	0	0	5281	835	29	2	368	2	ERP44	9	102769866	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1004111	102769866	38443565	223	56556											
KIAA0368	23392	broad.mit.edu	37	chr9	114134893	114134893	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagcacaagaggtcttgtaGataggttctgaaaaggagaa	17	8	12	4	0	2	4	0	1	2	3	2	5	2	4	0	3	1	3	0	3	7	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:114134893G>A	ENST00000259335.4	-	43	4877	c.4878C>T	c.(4876-4878)atC>atT	p.I1626I	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Silent_p.I1448I	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AGGTCTTGTAGATAGGTTCTG	0.348													4	22					0	0	0	0	A	114134893	G	A	114134893	2	1	317	1	0	0	0	0	0	0	0	1	8222	932	33	2		2	KIAA0368	9	114134893	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	11365027	114134893	27078538	224	56557											
ZFP37	7539	broad.mit.edu	37	chr9	115805660	115805660	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatgagttatacctaaaaGacttcccacattccttacat	14	12	5	10	0	0	3	0	1	0	2	2	4	2	3	3	0	2	1	3	0	5	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:115805660G>C	ENST00000374227.3	-	4	1265	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C	ZFP37_ENST00000553380.1_Missense_Mutation_p.S428C|ZFP37_ENST00000555206.1_Missense_Mutation_p.S414C			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	413						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ATACCTAAAAGACTTCCCACA	0.393													28	86					0	0	0	0	C	115805660	G	C	115805660	3	2	317	1	0	0	0	0	1	0	0	0	17743	942	33	2	658	2	ZFP37	9	115805660	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1670767	115805660	25407771	225	56558											
TRIM32	22954	broad.mit.edu	37	chr9	119460354	119460354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggcgtctgccccggcaattCtgccggagctgtggtttggt	3	11	15	12	4	2	0	0	0	2	0	2	1	2	1	3	5	3	3	3	5	1	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:119460354C>T	ENST00000450136.1	+	2	494	c.333C>T	c.(331-333)ttC>ttT	p.F111F	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.F111F|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361477.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	111					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CCCGGCAATTCTGCCGGAGCT	0.592													18	74					0	0	0	0	T	119460354	C	T	119460354	2	4	317	1	0	0	0	0	0	0	0	1	16601	912	32	2		2	TRIM32	9	119460354	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	3654694	119460354	21753077	226	56559											
ASTN2	23245	broad.mit.edu	37	chr9	119976688	119976688	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggatgtcccagactgtccaGagtgtgggtcacctggctgc	6	10	14	11	0	1	2	1	0	0	2	3	3	3	3	3	3	1	1	3	3	0	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:119976688G>C	ENST00000313400.4	-	3	1064	c.964C>G	c.(964-966)Ctg>Gtg	p.L322V	ASTN2_ENST00000361209.2_Missense_Mutation_p.L322V|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.L322V			O75129	ASTN2_HUMAN	astrotactin 2	322						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGACTGTCCAGAGTGTGGGTC	0.552													16	114					0	0	0	0	C	119976688	G	C	119976688	3	2	317	1	0	0	0	0	1	0	0	0	1069	933	33	2	3214	2	ASTN2	9	119976688	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	516334	119976688	21236743	227	56560											
ANGPTL2	23452	broad.mit.edu	37	chr9	129851244	129851244	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgttggggttcggtcGgatcatcatcaccactttct	7	13	12	9	2	4	0	3	0	1	0	6	2	4	1	1	5	0	2	1	5	1	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:129851244G>A	ENST00000373425.3	-	5	2073	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.R184*|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	486	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GGGTTCGGTCGGATCATCATC	0.607													23	111					0	0	0	0	A	129851244	G	A	129851244	4	1	317	1	0	0	0	0	0	1	0	0	614	1124	39	1	29	1	ANGPTL2	9	129851244	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	9874556	129851244	11362187	228	56561											
TTC16	158248	broad.mit.edu	37	chr9	130486622	130486622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacgagcagcaggagaaaGgactctacatcaaccgaggc	14	3	14	10	2	2	1	1	0	1	1	2	6	2	3	1	4	4	2	1	4	3	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:130486622G>A	ENST00000373289.3	+	8	1176	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.G190R	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	366							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCAGGAGAAAGGACTCTACAT	0.662													6	23					0	0	0	0	A	130486622	G	A	130486622	3	1	317	1	0	0	0	0	1	0	0	0	16779	1001	35	4	1126	4	TTC16	9	130486622	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	635378	130486622	10726809	229	56562											
FPGS	2356	broad.mit.edu	37	chr9	130569916	130569916	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcatcgaccacaccagcctCctgggggatacggtggagaa	10	5	14	12	2	0	1	0	0	0	1	2	4	1	2	4	5	2	1	4	5	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:130569916C>T	ENST00000373245.1	+	8	743	c.693C>T	c.(691-693)ctC>ctT	p.L231L	FPGS_ENST00000393706.2_Silent_p.L205L|FPGS_ENST00000373247.2_Silent_p.L231L|FPGS_ENST00000373225.3_Silent_p.L181L|FPGS_ENST00000460181.1_3'UTR			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	231					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)	ACACCAGCCTCCTGGGGGATA	0.622													4	25					0	0	0	0	T	130569916	C	T	130569916	2	4	317	1	0	0	0	0	0	0	0	1	6083	842	30	2		2	FPGS	9	130569916	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	83294	130569916	10643515	230	56563											
TRUB2	26995	broad.mit.edu	37	chr9	131084583	131084583	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttcgaggcactcacccttCagaagttgtagctccactgt	8	11	10	12	1	2	1	2	0	0	1	4	2	3	1	2	2	1	5	2	2	2	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:131084583C>G	ENST00000372890.4	-	1	438	c.105G>C	c.(103-105)ctG>ctC	p.L35L	TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	35					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.L35L(1)		kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						ACTCACCCTTCAGAAGTTGTA	0.562													7	62					0	0	0	0	G	131084583	C	G	131084583	2	3	317	1	0	0	0	0	0	0	0	1	16698	813	29	2		2	TRUB2	9	131084583	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	514667	131084583	10128848	231	56564											
TOR1B	27348	broad.mit.edu	37	chr9	132566591	132566591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcgactctgcacttccctCatgagcagaagataaaactg	13	10	7	11	1	2	3	1	1	1	2	4	4	3	3	1	0	3	2	1	0	4	3	rs78770065		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:132566591C>T	ENST00000259339.2	+	2	499	c.439C>T	c.(439-441)Cat>Tat	p.H147Y	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	147					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GCACTTCCCTCATGAGCAGAA	0.483													26	82					0	0	0	0	T	132566591	C	T	132566591	3	4	317	1	0	0	0	0	1	0	0	0	16469	826	29	2	445	2	TOR1B	9	132566591	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1482008	132566591	8646840	232	56565											
OLFM1	10439	broad.mit.edu	37	chr9	137990304	137990304	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacgatgaacttcagagcaGagtgtccaatcttgaagaaa	15	9	9	8	1	2	5	1	2	1	3	3	6	3	5	1	0	3	1	1	0	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:137990304G>C	ENST00000252854.4	+	4	762	c.575G>C	c.(574-576)aGa>aCa	p.R192T	OLFM1_ENST00000371793.3_Missense_Mutation_p.R210T|OLFM1_ENST00000371796.3_Missense_Mutation_p.R183T	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	210					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CTTCAGAGCAGAGTGTCCAAT	0.527													15	56					0	0	0	0	C	137990304	G	C	137990304	3	2	317	1	0	0	0	0	1	0	0	0	10923	942	33	2	599	2	OLFM1	9	137990304	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	5423713	137990304	3223127	233	56566											
NOTCH1	4851	broad.mit.edu	37	chr9	139402742	139402742	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acgtcgcagtaaaggccggtCcagccgctggggcactcgca	8	5	14	14	5	0	0	0	0	0	0	3	0	1	0	3	4	1	5	3	4	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:139402742C>T	ENST00000277541.6	-	20	3342	c.3267G>A	c.(3265-3267)tgG>tgA	p.W1089*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1089	EGF-like 28.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AAAGGCCGGTCCAGCCGCTGG	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			31	64					0	0	0	0	T	139402742	C	T	139402742	4	4	317	1	0	0	0	0	0	1	0	0	10617	856	30	2	4460	2	NOTCH1	9	139402742	Nonsense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1412438	139402742	1810689	234	56567											
TMEM141	85014	broad.mit.edu	37	chr9	139686222	139686222	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaagggcgttttcaccttCgtcacaggtaggctgcgtcc	7	11	12	11	3	2	1	2	1	0	0	4	1	3	1	2	3	1	3	2	3	2	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:139686222C>T	ENST00000290079.8	+	2	130	c.114C>T	c.(112-114)ttC>ttT	p.F38F	TMEM141_ENST00000465017.1_3'UTR	NM_032928.3	NP_116317.1	Q96I45	TM141_HUMAN	transmembrane protein 141	38						integral to membrane				large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.67e-06)|Epithelial(140;0.000112)		TTTTCACCTTCGTCACAGGTA	0.672											OREG0019622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	49					0	0	0	0	T	139686222	C	T	139686222	2	4	317	1	0	0	0	0	0	0	0	1	16150	883	31	1		1	TMEM141	9	139686222	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	283480	139686222	1527209	235	56568											
MRPL41	64975	broad.mit.edu	37	chr9	140446891	140446891	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acctggaaaagtacggcttcGagcccacacaggagggaaag	14	4	13	10	2	0	0	0	0	0	0	1	4	0	3	2	4	2	2	2	4	4	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:140446891G>C	ENST00000371443.5	+	2	1146	c.358G>C	c.(358-360)Gag>Cag	p.E120Q		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	120					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GTACGGCTTCGAGCCCACACA	0.602													11	23					0	0	0	0	C	140446891	G	C	140446891	3	2	317	1	0	0	0	0	1	0	0	0	9875	1059	37	3	360	3	MRPL41	9	140446891	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	760669	140446891	766540	236	56569											
EHMT1	79813	broad.mit.edu	37	chr9	140622883	140622883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagatcaacaaaaacatttCtgactttggacgacagcagc	15	8	9	9	1	2	2	1	1	1	1	2	5	2	3	0	2	4	1	0	2	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:140622883C>G	ENST00000460843.1	+	4	752	c.725C>G	c.(724-726)tCt>tGt	p.S242C	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.S242C|EHMT1_ENST00000334856.6_Missense_Mutation_p.S211C	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	242					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AAAAACATTTCTGACTTTGGA	0.458													11	85					0	0	0	0	G	140622883	C	G	140622883	3	3	317	1	0	0	0	0	1	0	0	0	5019	913	32	2	739	2	EHMT1	9	140622883	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	175992	140622883	590548	237	56570											
GTPBP4	23560	broad.mit.edu	37	chr10	1063059	1063059	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaagaatgctcagaagaaGatgaatcggttggggaagaa	17	7	14	3	1	1	7	1	2	0	5	2	8	1	8	0	3	1	2	0	3	7	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:1063059G>C	ENST00000360803.4	+	17	1879	c.1797G>C	c.(1795-1797)aaG>aaC	p.K599N	GTPBP4_ENST00000545048.1_Missense_Mutation_p.K552N|GTPBP4_ENST00000538293.1_Missense_Mutation_p.K483N	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	599					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CTCAGAAGAAGATGAATCGGT	0.403													15	63					0	0	0	0	C	1063059	G	C	1063059	3	2	317	1	0	0	0	0	1	0	0	0	6932	933	33	2	1863	2	GTPBP4	10	1063059	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08		1063059	134471688	238	56571											
WDR37	22884	broad.mit.edu	37	chr10	1123898	1123898	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacttctggaactgtttggtCaaatagaaagagaatttgaa	15	12	9	5	0	2	3	1	1	1	2	2	5	2	4	0	2	1	1	0	2	6	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:1123898C>G	ENST00000358220.1	+	3	334	c.190C>G	c.(190-192)Caa>Gaa	p.Q64E	WDR37_ENST00000263150.4_Missense_Mutation_p.Q64E|WDR37_ENST00000381329.1_Missense_Mutation_p.Q64E			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	64										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		ACTGTTTGGTCAAATAGAAAG	0.318													19	63					0	0	0	0	G	1123898	C	G	1123898	3	3	317	1	0	0	0	0	1	0	0	0	17387	827	29	2	196	2	WDR37	10	1123898	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	60839	1123898	134410849	239	56572											
DHTKD1	55526	broad.mit.edu	37	chr10	12126746	12126746	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgaaactaatgctggaatCtcaggtaaaaaggagcatct	15	9	10	7	1	2	0	1	0	2	0	4	3	2	2	0	3	3	3	0	3	6	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:12126746C>G	ENST00000263035.4	+	3	580	c.518C>G	c.(517-519)tCt>tGt	p.S173C	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	173					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ATGCTGGAATCTCAGGTAAAA	0.527													12	54					0	0	0	0	G	12126746	C	G	12126746	3	3	317	1	0	0	0	0	1	0	0	0	4537	913	32	2	528	2	DHTKD1	10	12126746	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	11002848	12126746	123408001	240	56573											
JMJD1C	221037	broad.mit.edu	37	chr10	64946111	64946111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttccataggctaatgttCattttcttatgcacaccaga	10	14	6	11	0	2	1	1	0	1	1	3	1	3	1	3	1	1	3	3	1	3	7			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:64946111C>T	ENST00000399262.2	-	19	6821	c.6603G>A	c.(6601-6603)atG>atA	p.M2201I	JMJD1C_ENST00000542921.1_Missense_Mutation_p.M2019I|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.M1964I	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2201					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGCTAATGTTCATTTTCTTAT	0.338													8	32					0	0	0	0	T	64946111	C	T	64946111	3	4	317	1	0	0	0	0	1	0	0	0	8003	826	29	2	1051	2	JMJD1C	10	64946111	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	52819365	64946111	70588636	241	56574											
MYPN	84665	broad.mit.edu	37	chr10	69881415	69881415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagccaagaagaattagacGaaagtgtcaatttggcaaga	17	8	11	5	1	1	5	1	1	0	4	1	6	1	5	1	1	1	1	1	1	7	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:69881415G>A	ENST00000358913.5	+	2	708	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	MYPN_ENST00000373675.3_Missense_Mutation_p.E74K|MYPN_ENST00000540630.1_Missense_Mutation_p.E74K|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	74	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGAATTAGACGAAAGTGTCAA	0.488													12	50					0	0	0	0	A	69881415	G	A	69881415	3	1	317	1	0	0	0	0	1	0	0	0	10168	1059	37	1	222	1	MYPN	10	69881415	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4935304	69881415	65653332	242	56575											
RUFY2	55680	broad.mit.edu	37	chr10	70156607	70156607	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttgcatgagggctaatcGaagccacgctcttgctcgac	8	12	10	11	3	1	1	0	1	1	0	3	3	1	1	1	1	3	4	1	1	2	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:70156607G>A	ENST00000388768.2	-	4	759	c.433C>T	c.(433-435)Cga>Tga	p.R145*	RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Nonsense_Mutation_p.R52*|RUFY2_ENST00000602465.1_Nonsense_Mutation_p.R110*|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Nonsense_Mutation_p.R110*	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	159	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AGGGCTAATCGAAGCCACGCT	0.428													17	38					0	0	0	0	A	70156607	G	A	70156607	4	1	317	1	0	0	0	0	0	1	0	0	13824	1066	37	1	1665	1	RUFY2	10	70156607	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	275192	70156607	65378140	243	56576											
SUPV3L1	6832	broad.mit.edu	37	chr10	70958267	70958267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcggcagattgaaattcGgggattagaatcagctgtta	12	11	13	5	2	1	3	1	1	0	2	3	5	1	4	0	3	1	3	0	3	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:70958267G>A	ENST00000359655.4	+	9	1223	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	388	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTGAAATTCGGGGATTAGAA	0.393													21	84					0	0	0	0	A	70958267	G	A	70958267	3	1	317	1	0	0	0	0	1	0	0	0	15492	1116	39	1	1197	1	SUPV3L1	10	70958267	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	801660	70958267	64576480	244	56577											
TTC18	118491	broad.mit.edu	37	chr10	75051064	75051064	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactagattctctcttccctCtttcctcagtgtcttctaca	7	17	3	14	0	6	1	1	0	5	1	9	1	8	1	2	0	2	0	2	0	3	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:75051064C>G	ENST00000310715.3	-	20	2489	c.2369G>C	c.(2368-2370)aGa>aCa	p.R790T	TTC18_ENST00000394865.1_Missense_Mutation_p.R790T|TTC18_ENST00000355577.3_Missense_Mutation_p.R259T|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.R790T	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	790							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCTCTTCCCTCTTTCCTCAGT	0.493													23	121					0	0	0	0	G	75051064	C	G	75051064	3	3	317	1	0	0	0	0	1	0	0	0	16781	913	32	2	1032	2	TTC18	10	75051064	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	4092797	75051064	60483683	245	56578											
VCL	7414	broad.mit.edu	37	chr10	75877857	75877857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcgggaagctgaagctgCttcaatcaaaattcgaacag	13	9	11	8	2	2	1	2	1	0	0	3	3	2	2	0	1	5	3	0	1	6	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:75877857C>T	ENST00000211998.4	+	22	3429	c.3335C>T	c.(3334-3336)gCt>gTt	p.A1112V	VCL_ENST00000372755.3_Missense_Mutation_p.A1044V|VCL_ENST00000417648.2_Missense_Mutation_p.A305V	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1112	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GCTGAAGCTGCTTCAATCAAA	0.517													4	69					0	0	0	0	T	75877857	C	T	75877857	3	4	317	1	0	0	0	0	1	0	0	0	17235	797	28	4	3421	4	VCL	10	75877857	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	826793	75877857	59656890	246	56579											
HECTD2	143279	broad.mit.edu	37	chr10	93242780	93242780	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgctcacttgctacgacaGatagctaccttagtggaagc	11	11	9	10	1	1	1	1	0	0	1	1	3	1	2	1	1	6	3	1	1	6	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:93242780G>C	ENST00000446394.1	+	8	868	c.768G>C	c.(766-768)caG>caC	p.Q256H	HECTD2_ENST00000298068.5_Missense_Mutation_p.Q256H|HECTD2_ENST00000536715.1_5'UTR			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	256					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TGCTACGACAGATAGCTACCT	0.308													16	35					0	0	0	0	C	93242780	G	C	93242780	3	2	317	1	0	0	0	0	1	0	0	0	7090	933	33	2	822	2	HECTD2	10	93242780	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	17364923	93242780	42291967	247	56580											
CYP2C9	1559	broad.mit.edu	37	chr10	96702031	96702031	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaattttgggatggggaaGaggagcattgaggaccgtgt	10	9	18	4	2	0	2	0	1	0	1	0	7	0	7	1	6	1	1	1	6	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:96702031G>C	ENST00000260682.6	+	3	426	c.414G>C	c.(412-414)aaG>aaC	p.K138N	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	138					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GGATGGGGAAGAGGAGCATTG	0.502													16	68					0	0	0	0	C	96702031	G	C	96702031	3	2	317	1	0	0	0	0	1	0	0	0	4200	933	33	2	424	2	CYP2C9	10	96702031	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	3459251	96702031	38832716	248	56581											
SFRP5	6425	broad.mit.edu	37	chr10	99527298	99527298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgccgccccgtagaaGaaagggtagtagagggagca	11	5	16	9	2	1	3	0	0	1	3	1	4	1	4	3	3	2	5	3	3	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:99527298G>T	ENST00000266066.3	-	3	1045	c.927C>A	c.(925-927)ttC>ttA	p.F309L		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	309					apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		CCCCGTAGAAGAAAGGGTAGT	0.587													5	21					0.00116845	0.00119612	1	0	T	99527298	G	T	99527298	3	4	317	1	0	0	0	0	1	0	0	0	14251	933	33	2	30	2	SFRP5	10	99527298	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2825267	99527298	36007449	249	56582											
SFRP5	6425	broad.mit.edu	37	chr10	99527328	99527328	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagagggagcaggggtaggaGaacatgaatttgactgcaaa	15	7	15	4	0	0	4	0	2	0	2	0	6	0	5	0	4	3	3	0	4	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:99527328G>A	ENST00000266066.3	-	3	1015	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	299	NTR.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		AGGGGTAGGAGAACATGAATT	0.567													8	29					0	0	0	0	A	99527328	G	A	99527328	2	1	317	1	0	0	0	0	0	0	0	1	14251	933	33	2		2	SFRP5	10	99527328	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	30	99527328	36007419	250	56583											
CWF19L1	55280	broad.mit.edu	37	chr10	102003530	102003530	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagcagggtcctggaggCtgagcttcatgtaaaagaaa	14	7	12	8	0	1	2	1	1	0	1	2	3	2	3	2	3	3	4	2	3	4	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:102003530C>A	ENST00000354105.4	-	10	1055	c.969G>T	c.(967-969)caG>caT	p.Q323H	CWF19L1_ENST00000370379.1_Missense_Mutation_p.Q78H|CWF19L1_ENST00000478047.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	323							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GTCCTGGAGGCTGAGCTTCAT	0.443													29	90					1.88708e-17	2.03872e-17	1	0	A	102003530	C	A	102003530	3	1	317	1	0	0	0	0	1	0	0	0	4103	796	28	4	667	4	CWF19L1	10	102003530	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2476202	102003530	33531217	251	56584											
PSD	5662	broad.mit.edu	37	chr10	104173810	104173810	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaaggcctccagcgaggcGaggctggtataggaggtgcc	8	5	17	11	2	0	0	0	0	0	0	1	3	1	1	4	6	2	2	4	6	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:104173810G>A	ENST00000020673.5	-	5	1795	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	PSD_ENST00000406432.1_Silent_p.L423L	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	423					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCAGCGAGGCGAGGCTGGTAT	0.652													4	46					0	0	0	0	A	104173810	G	A	104173810	2	1	317	1	0	0	0	0	0	0	0	1	12725	1045	37	1		1	PSD	10	104173810	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2170280	104173810	31360937	252	56585											
MUC6	4588	broad.mit.edu	37	chr11	1016425	1016425	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaatgaggaggacagctGattagttgtggaaacaggag	16	7	15	3	0	0	3	0	2	0	1	0	7	0	7	0	4	2	2	0	4	4	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:1016425G>A	ENST00000421673.2	-	31	6426	c.6376C>T	c.(6376-6378)Cag>Tag	p.Q2126*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2126	Ser-rich.|Thr-rich.				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)		GAGGACAGCTGATTAGTTGTG	0.527													5	26					0	0	0	0	A	1016425	G	A	1016425	4	1	317	1	0	0	0	0	0	1	0	0	10050	1299	45	2	955	2	MUC6	11	1016425	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08		1016425	133990091	253	56586											
RRP8	23378	broad.mit.edu	37	chr11	6622653	6622653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgtcttctctgtgggggCctcagctggggcctggtctg	1	13	15	12	0	5	0	1	0	4	0	6	0	5	0	2	5	1	1	2	5	0	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:6622653C>T	ENST00000254605.6	-	3	760	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	215					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						TCTGTGGGGGCCTCAGCTGGG	0.592													11	39					0	0	0	0	T	6622653	C	T	6622653	3	4	317	1	0	0	0	0	1	0	0	0	13775	739	26	4	747	4	RRP8	11	6622653	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	5606228	6622653	128383863	254	56587											
DKK3	27122	broad.mit.edu	37	chr11	11988594	11988594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggccattttggtgcagtGaccccagacacacagctggt	8	9	13	11	0	0	2	0	1	0	1	0	2	0	2	3	4	2	2	3	4	0	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:11988594G>A	ENST00000396505.2	-	6	818	c.580C>T	c.(580-582)Cac>Tac	p.H194Y	DKK3_ENST00000525493.1_Missense_Mutation_p.H194Y|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Missense_Mutation_p.H166Y|DKK3_ENST00000326932.4_Missense_Mutation_p.H194Y	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	194	DKK-type Cys-1.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		TTGGTGCAGTGACCCCAGACA	0.622											OREG0020766	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	41					0	0	0	0	A	11988594	G	A	11988594	3	1	317	1	0	0	0	0	1	0	0	0	4583	1290	45	2	484	2	DKK3	11	11988594	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	5365941	11988594	123017922	255	56588											
WT1	7490	broad.mit.edu	37	chr11	32417879	32417879	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcctgggtaagcacacatGaaggggcgtttctcactggt	9	9	13	10	1	1	1	1	1	1	0	2	1	1	1	1	4	2	3	1	4	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:32417879G>A	ENST00000332351.3	-	7	1457	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	WT1_ENST00000530998.1_Silent_p.F162F|WT1_ENST00000448076.3_Silent_p.F391F|WT1_ENST00000379079.2_Silent_p.F179F	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	323					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AAGCACACATGAAGGGGCGTT	0.542			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				17	49					0	0	0	0	A	32417879	G	A	32417879	2	1	317	1	0	0	0	0	0	0	0	1	17504	1281	45	2		2	WT1	11	32417879	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	20429285	32417879	102588637	256	56589											
AHNAK	79026	broad.mit.edu	37	chr11	62286412	62286412	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgcactttggggcctttCaggtcaccctctatttttgg	4	15	10	12	0	3	0	2	0	1	0	3	0	3	0	3	4	1	1	3	4	1	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62286412C>G	ENST00000378024.4	-	5	15751	c.15477G>C	c.(15475-15477)ctG>ctC	p.L5159L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5159					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGGCCTTTCAGGTCACCCT	0.522													9	44					0	0	0	0	G	62286412	C	G	62286412	2	3	317	1	0	0	0	0	0	0	0	1	414	813	29	2		2	AHNAK	11	62286412	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	29868533	62286412	72720104	257	56590			2	86		8	8	12375	C		1.897932e-09
AHNAK	79026	broad.mit.edu	37	chr11	62291157	62291157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactttagggcctttgatatCaacctctggccctttcagat	8	14	7	12	0	3	2	2	1	1	1	3	2	3	2	3	2	1	0	3	2	3	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62291157C>T	ENST00000378024.4	-	5	11006	c.10732G>A	c.(10732-10734)Gat>Aat	p.D3578N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3578					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTGATATCAACCTCTGGC	0.468													56	161					0	0	0	0	T	62291157	C	T	62291157	3	4	317	1	0	0	0	0	1	0	0	0	414	826	29	2	7060	2	AHNAK	11	62291157	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	4745	62291157	72715359	258	56591			2	86		8	8	12375	C		1.897932e-09
AHNAK	79026	broad.mit.edu	37	chr11	62294428	62294428	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttggggcccctgatgttCatatctggtacttcaagttt	7	16	9	9	0	3	1	2	1	1	0	3	1	3	1	2	3	1	3	2	3	3	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62294428C>G	ENST00000378024.4	-	5	7735	c.7461G>C	c.(7459-7461)atG>atC	p.M2487I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2487					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCTGATGTTCATATCTGGTA	0.478													49	147					0	0	0	0	G	62294428	C	G	62294428	3	3	317	1	0	0	0	0	1	0	0	0	414	826	29	2	10331	2	AHNAK	11	62294428	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	3271	62294428	72712088	259	56592			2	86		8	8	12375	C		1.897932e-09
AHNAK	79026	broad.mit.edu	37	chr11	62296791	62296791	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggtcgtgaacctccacatCtggggcatcaatgtccactt	8	11	10	12	1	2	1	1	1	1	0	5	1	4	1	3	3	1	1	3	3	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62296791C>G	ENST00000378024.4	-	5	5372	c.5098G>C	c.(5098-5100)Gat>Cat	p.D1700H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1700					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACCTCCACATCTGGGGCATCA	0.493													60	241					0	0	0	0	G	62296791	C	G	62296791	3	3	317	1	0	0	0	0	1	0	0	0	414	913	32	2	12694	2	AHNAK	11	62296791	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2363	62296791	72709725	260	56593			2	86		8	8	12375	C		1.897932e-09
AHNAK	79026	broad.mit.edu	37	chr11	62296833	62296833	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggccctttaatgtcaacatCtggcactttcatttcacctt	8	15	6	12	0	4	0	3	0	1	0	4	0	4	0	2	2	1	1	2	2	2	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62296833C>G	ENST00000378024.4	-	5	5330	c.5056G>C	c.(5056-5058)Gat>Cat	p.D1686H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1686					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGTCAACATCTGGCACTTTC	0.488													71	259					0	0	0	0	G	62296833	C	G	62296833	3	3	317	1	0	0	0	0	1	0	0	0	414	913	32	2	12736	2	AHNAK	11	62296833	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	42	62296833	72709683	261	56594			2	86		8	8	12375	C		1.897932e-09
AHNAK	79026	broad.mit.edu	37	chr11	62297749	62297749	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttcaccttgggcatcttCaggtgccaatctgggccatg	7	13	10	11	0	4	0	2	0	2	0	4	0	4	0	3	3	1	1	3	3	1	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62297749C>T	ENST00000378024.4	-	5	4414	c.4140G>A	c.(4138-4140)ctG>ctA	p.L1380L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1380					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCATCTTCAGGTGCCAAT	0.498													81	236					0	0	0	0	T	62297749	C	T	62297749	2	4	317	1	0	0	0	0	0	0	0	1	414	813	29	2		2	AHNAK	11	62297749	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	916	62297749	72708767	262	56595			2	86		8	8	12375	C		1.897932e-09
AHNAK	79026	broad.mit.edu	37	chr11	62298201	62298201	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattttgggtcctttgatttCaacatctggcactttcattt	7	19	6	9	0	3	1	2	1	1	0	4	1	4	1	1	2	1	1	1	2	1	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62298201C>G	ENST00000378024.4	-	5	3962	c.3688G>C	c.(3688-3690)Gaa>Caa	p.E1230Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1230					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTGATTTCAACATCTGGC	0.483													89	285					0	0	0	0	G	62298201	C	G	62298201	3	3	317	1	0	0	0	0	1	0	0	0	414	835	29	2	14104	2	AHNAK	11	62298201	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	452	62298201	72708315	263	56596			2	86		8	8	12375	C		1.897932e-09
AHNAK	79026	broad.mit.edu	37	chr11	62298786	62298786	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatctggagcattagtatCtacttttggtgcagaaatgt	11	14	10	6	0	2	2	0	0	2	2	2	3	2	3	0	2	3	3	0	2	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62298786C>G	ENST00000378024.4	-	5	3377	c.3103G>C	c.(3103-3105)Gat>Cat	p.D1035H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1035					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATTAGTATCTACTTTTGGT	0.463													14	84					0	0	0	0	G	62298786	C	G	62298786	3	3	317	1	0	0	0	0	1	0	0	0	414	913	32	2	14689	2	AHNAK	11	62298786	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	585	62298786	72707730	264	56597			2	86		8	8	12375	C		1.897932e-09
SLC3A2	6520	broad.mit.edu	37	chr11	62649516	62649516	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaagattttgacagtctCttgcaatcggctaaaaaaaa	17	10	8	6	1	1	2	0	1	1	1	3	3	1	3	0	2	1	2	0	2	7	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62649516C>T	ENST00000377892.1	+	6	1196	c.972C>T	c.(970-972)ctC>ctT	p.L324L	SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000535296.1_Silent_p.L262L|SLC3A2_ENST00000338663.7_Silent_p.L192L|SLC3A2_ENST00000377889.2_Silent_p.L231L|SLC3A2_ENST00000377890.2_Silent_p.L293L|SLC3A2_ENST00000377891.2_Silent_p.L294L			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	293					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TTGACAGTCTCTTGCAATCGG	0.473													12	51					0	0	0	0	T	62649516	C	T	62649516	2	4	317	1	0	0	0	0	0	0	0	1	14715	900	32	2		2	SLC3A2	11	62649516	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	350730	62649516	72357000	265	56598											
SF1	7536	broad.mit.edu	37	chr11	64536578	64536578	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtaatgctgcgggtctctGagctctgccagggtcttaag	6	12	14	9	1	3	1	0	1	3	0	4	1	3	1	1	3	4	3	1	3	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:64536578G>C	ENST00000377390.3	-	8	1140	c.803C>G	c.(802-804)tCa>tGa	p.S268*	SF1_ENST00000422298.2_Nonsense_Mutation_p.S153*|SF1_ENST00000377394.3_Nonsense_Mutation_p.S268*|SF1_ENST00000433274.2_Nonsense_Mutation_p.S242*|SF1_ENST00000377387.1_Nonsense_Mutation_p.S393*|SF1_ENST00000334944.5_Nonsense_Mutation_p.S268*|SF1_ENST00000227503.9_Nonsense_Mutation_p.S268*|SF1_ENST00000489544.1_5'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	268					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	p.S268L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCGGGTCTCTGAGCTCTGCCA	0.488													16	82					0	0	0	0	C	64536578	G	C	64536578	4	2	317	1	0	0	0	0	0	1	0	0	14232	1294	45	2	1278	2	SF1	11	64536578	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1887062	64536578	70469938	266	56599											
CFL1	1072	broad.mit.edu	37	chr11	65623593	65623593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgatgttcttcttgtcctCactcaggcagaagagcaccg	9	11	10	11	1	4	3	2	1	2	2	5	4	5	3	2	1	1	3	2	1	1	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:65623593C>T	ENST00000525451.2	-	3	839	c.124G>A	c.(124-126)Gag>Aag	p.E42K	CFL1_ENST00000308162.5_Missense_Mutation_p.E42K|CFL1_ENST00000527344.1_Missense_Mutation_p.E25K|CFL1_ENST00000534769.1_Missense_Mutation_p.E80K|CFL1_ENST00000524553.1_Missense_Mutation_p.E25K|CFL1_ENST00000531407.1_Missense_Mutation_p.E25K|CFL1_ENST00000531413.1_Missense_Mutation_p.E25K			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	42	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		TTCTTGTCCTCACTCAGGCAG	0.547													17	56					0	0	0	0	T	65623593	C	T	65623593	3	4	317	1	0	0	0	0	1	0	0	0	3319	835	29	2	388	2	CFL1	11	65623593	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1087015	65623593	69382923	267	56600											
IGHMBP2	3508	broad.mit.edu	37	chr11	68704300	68704300	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggttcatcactgtgagcaaGagggccccgcgaccccgagc	9	5	13	14	3	2	2	2	1	0	1	2	4	2	2	4	2	2	2	4	2	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:68704300G>C	ENST00000255078.3	+	13	2463	c.2352G>C	c.(2350-2352)aaG>aaC	p.K784N		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	784	R3H.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGTGAGCAAGAGGGCCCCGC	0.682													5	17					0	0	0	0	C	68704300	G	C	68704300	3	2	317	1	0	0	0	0	1	0	0	0	7644	933	33	2	2402	2	IGHMBP2	11	68704300	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	3080707	68704300	66302216	268	56601											
FCHSD2	9873	broad.mit.edu	37	chr11	72600885	72600885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacacttacccgttgttggtGaacaatgtttttatgctcac	9	16	7	9	1	1	1	1	1	0	0	1	1	1	1	1	1	4	4	1	1	5	7			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:72600885G>A	ENST00000409314.1	-	12	1270	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	FCHSD2_ENST00000458644.2_Missense_Mutation_p.H208Y|FCHSD2_ENST00000311172.7_Missense_Mutation_p.H288Y|FCHSD2_ENST00000409853.1_Missense_Mutation_p.H288Y|FCHSD2_ENST00000409418.4_Missense_Mutation_p.H344Y			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	344							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CGTTGTTGGTGAACAATGTTT	0.393													7	12					0	0	0	0	A	72600885	G	A	72600885	3	1	317	1	0	0	0	0	1	0	0	0	5835	1290	45	2	1232	2	FCHSD2	11	72600885	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	3896585	72600885	62405631	269	56602											
PLEKHB1	58473	broad.mit.edu	37	chr11	73372592	73372592	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggccatgggcatgcttgcggGagccgccactggggcggcgc	4	5	19	13	4	0	0	0	0	0	0	0	1	0	1	3	6	3	2	3	6	0	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:73372592G>C	ENST00000354190.5	+	8	1108	c.677G>C	c.(676-678)gGa>gCa	p.G226A	PLEKHB1_ENST00000398492.4_Missense_Mutation_p.G191A|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.G207A|PLEKHB1_ENST00000535129.1_Missense_Mutation_p.G172A|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.G121A|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.G172A	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	226					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						ATGCTTGCGGGAGCCGCCACT	0.692											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	62					0	0	0	0	C	73372592	G	C	73372592	3	2	317	1	0	0	0	0	1	0	0	0	12136	1174	41	2	707	2	PLEKHB1	11	73372592	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	771707	73372592	61633924	270	56603											
PGM2L1	283209	broad.mit.edu	37	chr11	74056565	74056565	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttcagaattttagaagaGactgtggtggctaacatata	13	12	10	6	0	1	3	1	0	0	3	1	4	1	3	1	2	1	1	1	2	6	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:74056565G>C	ENST00000298198.4	-	9	1478	c.1167C>G	c.(1165-1167)gtC>gtG	p.V389V		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	389					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTTTAGAAGAGACTGTGGTGG	0.333													10	52					0	0	0	0	C	74056565	G	C	74056565	2	2	317	1	0	0	0	0	0	0	0	1	11871	929	33	2		2	PGM2L1	11	74056565	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	683973	74056565	60949951	271	56604											
OR2AT4	341152	broad.mit.edu	37	chr11	74799889	74799889	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgtgtaaatgagggggttGagaattggtgtgagaatggc	11	10	18	2	1	0	3	0	3	0	2	0	5	0	3	0	4	1	2	0	4	4	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:74799889G>C	ENST00000305159.3	-	1	910	c.870C>G	c.(868-870)ctC>ctG	p.L290L		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGAGGGGGTTGAGAATTGGTG	0.483													20	61					0	0	0	0	C	74799889	G	C	74799889	2	2	317	1	0	0	0	0	0	0	0	1	11058	1277	45	2		2	OR2AT4	11	74799889	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	743324	74799889	60206627	272	56605											
MRE11A	4361	broad.mit.edu	37	chr11	94179020	94179020	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctgacacagcagtctttGagttcctgctacgggtagaa	10	11	11	9	1	1	3	0	2	1	1	2	3	2	3	1	1	4	5	1	1	3	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:94179020G>C	ENST00000323929.3	-	16	2045	c.1823C>G	c.(1822-1824)tCa>tGa	p.S608*	MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000407439.3_Nonsense_Mutation_p.S611*|MRE11A_ENST00000393241.4_Nonsense_Mutation_p.S607*	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	608					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AGCAGTCTTTGAGTTCCTGCT	0.378								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				32	89					0	0	0	0	C	94179020	G	C	94179020	4	2	317	1	0	0	0	0	0	1	0	0	9829	1294	45	2	323	2	MRE11A	11	94179020	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	19379131	94179020	40827496	273	56606											
BIRC3	330	broad.mit.edu	37	chr11	102195711	102195711	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcaagatttttctgccttGatgagaagttcctaccactg	11	14	7	9	0	2	3	1	2	1	2	3	4	3	3	3	0	2	1	3	0	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:102195711G>A	ENST00000263464.3	+	2	3221	c.471G>A	c.(469-471)ttG>ttA	p.L157L	BIRC3_ENST00000532808.1_Silent_p.L157L	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	157					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TTTCTGCCTTGATGAGAAGTT	0.408			T	MALT1	MALT								49	150					0	0	0	0	A	102195711	G	A	102195711	2	1	317	1	0	0	0	0	0	0	0	1	1441	1281	45	2		2	BIRC3	11	102195711	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	8016691	102195711	32810805	274	56607											
EXPH5	23086	broad.mit.edu	37	chr11	108384448	108384448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctgttgacttaccaactCactagatttgacgtgatagc	10	13	8	10	1	1	4	1	3	0	1	2	4	2	4	2	0	3	1	2	0	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:108384448C>T	ENST00000265843.4	-	6	1896	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	EXPH5_ENST00000525344.1_Missense_Mutation_p.E589K|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.E520K|EXPH5_ENST00000443411.1_Missense_Mutation_p.E408K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	596					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTACCAACTCACTAGATTTG	0.418													6	85					0	0	0	0	T	108384448	C	T	108384448	3	4	317	1	0	0	0	0	1	0	0	0	5360	835	29	2	4187	2	EXPH5	11	108384448	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	6188737	108384448	26622068	275	56608											
FDX1	2230	broad.mit.edu	37	chr11	110306635	110306635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaggaaaagttggtgattCtctgctagatgttgtggttg	10	14	13	4	0	1	2	0	1	1	1	2	3	1	3	0	3	1	4	0	3	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:110306635C>T	ENST00000260270.2	+	2	501	c.263C>T	c.(262-264)tCt>tTt	p.S88F		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	88	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	GTTGGTGATTCTCTGCTAGAT	0.323													12	39					0	0	0	0	T	110306635	C	T	110306635	3	4	317	1	0	0	0	0	1	0	0	0	5849	913	32	2	269	2	FDX1	11	110306635	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1922187	110306635	24699881	276	56609											
DRD2	1813	broad.mit.edu	37	chr11	113281596	113281596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcagtcacagtgtatgttCaggatgtgtgtgatgaagaa	11	13	13	4	0	2	3	2	2	0	1	2	4	2	4	0	1	1	3	0	1	3	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:113281596C>T	ENST00000362072.3	-	8	1529	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L	DRD2_ENST00000544518.1_Silent_p.L394L|DRD2_ENST00000355319.2_Silent_p.L397L|DRD2_ENST00000542968.1_Silent_p.L395L|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Silent_p.L366L|DRD2_ENST00000538967.1_Silent_p.L397L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	395					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	AGTGTATGTTCAGGATGTGTG	0.602													12	42					0	0	0	0	T	113281596	C	T	113281596	2	4	317	1	0	0	0	0	0	0	0	1	4793	813	29	2		2	DRD2	11	113281596	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2974961	113281596	21724920	277	56610											
NTM	50863	broad.mit.edu	37	chr11	132082033	132082033	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttacttggagacacatctCtcccaaaggtaagagaacag	14	8	10	9	0	1	2	0	0	1	2	3	4	2	2	1	3	2	2	1	3	4	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:132082033C>G	ENST00000374786.1	+	3	997	c.518C>G	c.(517-519)tCt>tGt	p.S173C	NTM_ENST00000427481.2_Missense_Mutation_p.S164C|NTM_ENST00000374791.3_Missense_Mutation_p.S173C|NTM_ENST00000539799.1_Missense_Mutation_p.S173C|NTM_ENST00000374784.1_Missense_Mutation_p.S173C|NTM_ENST00000425719.2_Missense_Mutation_p.S173C|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	173	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGACACATCTCTCCCAAAGGT	0.443													18	66					0	0	0	0	G	132082033	C	G	132082033	3	3	317	1	0	0	0	0	1	0	0	0	10770	913	32	2	614	2	NTM	11	132082033	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	18800437	132082033	2924483	278	56611											
WNK1	65125	broad.mit.edu	37	chr12	978248	978248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aactgcctcattttcttcagGaggatctgcacttcatccac	9	13	6	13	0	5	0	3	0	2	0	6	2	6	2	2	2	3	1	2	2	1	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:978248G>A	ENST00000537687.1	+	9	3999	c.3356G>A	c.(3355-3357)gGa>gAa	p.G1119E	WNK1_ENST00000340908.4_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.G1204E|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.G418E	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	857					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTTTCTTCAGGAGGATCTGCA	0.393													35	266					0	0	0	0	A	978248	G	A	978248	3	1	317	1	0	0	0	0	1	0	0	0	17473	1174	41	2	3649	2	WNK1	12	978248	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08		978248	132873647	279	56612											
NANOG	79923	broad.mit.edu	37	chr12	7942253	7942253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaaagcttgccttgctttGaagcatccgactgtaaagaa	12	10	8	11	1	0	2	0	1	0	1	1	3	1	2	3	0	4	4	3	0	5	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:7942253G>C	ENST00000229307.4	+	1	262	c.43G>C	c.(43-45)Gaa>Caa	p.E15Q	NANOG_ENST00000526286.1_Missense_Mutation_p.E15Q	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	15					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		GCCTTGCTTTGAAGCATCCGA	0.438													9	105					0	0	0	0	C	7942253	G	C	7942253	3	2	317	1	0	0	0	0	1	0	0	0	10220	1291	45	2	45	2	NANOG	12	7942253	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	6964005	7942253	125909642	280	56613											
TAS2R46	259292	broad.mit.edu	37	chr12	11214128	11214128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catgaagacaggtttgttttCcagactctcaaaactccaaa	14	11	6	10	0	1	3	1	1	1	2	4	3	3	3	2	1	1	2	2	1	4	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:11214128C>G	ENST00000533467.1	-	1	765	c.766G>C	c.(766-768)Gaa>Caa	p.E256Q	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	256					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GGTTTGTTTTCCAGACTCTCA	0.423													18	126					0	0	0	0	G	11214128	C	G	11214128	3	3	317	1	0	0	0	0	1	0	0	0	15673	864	30	2	167	2	TAS2R46	12	11214128	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	3271875	11214128	122637767	281	56614											
LRP6	4040	broad.mit.edu	37	chr12	12284896	12284896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagttcatcactgtggtcttCacattcagtaaacccatcgc	10	12	7	12	1	5	0	4	0	1	0	6	1	5	0	1	1	1	2	1	1	2	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:12284896C>T	ENST00000261349.4	-	18	3905	c.3829G>A	c.(3829-3831)Gaa>Aaa	p.E1277K	LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Intron|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1277	LDL-receptor class A 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTGTGGTCTTCACATTCAGTA	0.498													11	51					0	0	0	0	T	12284896	C	T	12284896	3	4	317	1	0	0	0	0	1	0	0	0	9026	835	29	2	1036	2	LRP6	12	12284896	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1070768	12284896	121566999	282	56615											
ABCC9	10060	broad.mit.edu	37	chr12	22015908	22015908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctgtttgttaaaaggacttCcaaaagtaatattttcttct	12	18	5	6	0	3	0	0	0	3	0	4	1	4	1	1	1	0	3	1	1	6	8			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:22015908C>T	ENST00000261200.4	-	18	2317	c.2318G>A	c.(2317-2319)gGa>gAa	p.G773E	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G737E|ABCC9_ENST00000261201.4_Missense_Mutation_p.G773E	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	773	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAAGGACTTCCAAAAGTAAT	0.343													5	27					0	0	0	0	T	22015908	C	T	22015908	3	4	317	1	0	0	0	0	1	0	0	0	59	855	30	2	2557	2	ABCC9	12	22015908	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	9731012	22015908	111835987	283	56616											
TSPAN11	441631	broad.mit.edu	37	chr12	31116785	31116785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagcagccgtcctggctGtgggcatctggaccctggtg	4	8	18	11	1	1	0	0	0	1	0	2	2	2	2	3	6	2	3	3	6	0	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:31116785G>A	ENST00000261177.9	+	3	168	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	TSPAN11_ENST00000546076.1_Missense_Mutation_p.V37M|TSPAN11_ENST00000535215.1_5'UTR|TSPAN11_ENST00000544427.1_Missense_Mutation_p.V27M	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	37						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGTCCTGGCTGTGGGCATCTG	0.662													20	52					0	0	0	0	A	31116785	G	A	31116785	3	1	317	1	0	0	0	0	1	0	0	0	16730	1377	48	4	115	4	TSPAN11	12	31116785	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	9100877	31116785	102735110	284	56617											
ABCD2	225	broad.mit.edu	37	chr12	39947792	39947792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacatagttcattgagtctCtgctgcattttgggaattcc	8	17	8	8	0	2	1	1	1	1	0	4	2	3	2	1	1	3	3	1	1	3	7			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:39947792C>G	ENST00000308666.3	-	10	2280	c.2145G>C	c.(2143-2145)caG>caC	p.Q715H		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	715					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CATTGAGTCTCTGCTGCATTT	0.343													6	37					0	0	0	0	G	39947792	C	G	39947792	3	3	317	1	0	0	0	0	1	0	0	0	61	912	32	2	81	2	ABCD2	12	39947792	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	8831007	39947792	93904103	285	56618											
ADCY6	112	broad.mit.edu	37	chr12	49171950	49171950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgtaaccgcgggtctcctGaaaggcctggcgctgagaca	9	7	14	11	3	1	2	0	2	1	1	2	4	1	2	3	3	1	2	3	3	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:49171950G>C	ENST00000307885.4	-	2	1649	c.955C>G	c.(955-957)Cag>Gag	p.Q319E	ADCY6_ENST00000550422.1_Missense_Mutation_p.Q319E|ADCY6_ENST00000357869.3_Missense_Mutation_p.Q319E	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	319					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CGGGTCTCCTGAAAGGCCTGG	0.632													5	18					0	0	0	0	C	49171950	G	C	49171950	3	2	317	1	0	0	0	0	1	0	0	0	298	1299	45	2	2631	2	ADCY6	12	49171950	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	9224158	49171950	84679945	286	56619											
PRPF40B	25766	broad.mit.edu	37	chr12	50027427	50027427	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcccatcacagttctagtCaaacaagaggctgcagggtg	11	10	10	10	0	3	1	2	0	1	1	4	1	4	1	1	2	2	3	1	2	3	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:50027427C>G	ENST00000261897.1	+	8	1055	c.504C>G	c.(502-504)gtC>gtG	p.V168V	PRPF40B_ENST00000548825.2_Silent_p.V196V|PRPF40B_ENST00000380281.1_Silent_p.V174V			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	174					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CAGTTCTAGTCAAACAAGAGG	0.537													4	46					0	0	0	0	G	50027427	C	G	50027427	2	3	317	1	0	0	0	0	0	0	0	1	12652	813	29	2		2	PRPF40B	12	50027427	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	855477	50027427	83824468	287	56620											
KRT74	121391	broad.mit.edu	37	chr12	52967185	52967185	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcagggtccagctccacgTtgaggggggccaagaggctc	7	7	15	12	1	1	2	1	1	1	1	5	2	3	2	3	5	1	3	3	5	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:52967185T>C	ENST00000549343.1	-	1	415	c.377A>G	c.(376-378)aAc>aGc	p.N126S	KRT74_ENST00000305620.2_Missense_Mutation_p.N126S			Q7RTS7	K2C74_HUMAN	keratin 74	126	Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CAGCTCCACGTTGAGGGGGGC	0.597													26	65					0	0	0	0	C	52967185	T	C	52967185	3	2	317	1	0	0	0	0	1	0	0	0	8539	1725	60	5	1248	5	KRT74	12	52967185	Missense_Mutation	SNP	T	TCGA-CV-7427-01A-11D-2078-08	2939758	52967185	80884710	288	56621											
HOXC11	3227	broad.mit.edu	37	chr12	54367025	54367025	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccggcaggagaggagaacGatgtttaactcggtcaacct	12	7	13	9	3	1	2	1	0	0	2	2	5	1	2	2	4	4	2	2	4	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:54367025G>A	ENST00000546378.1	+	0	116				HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_De_novo_Start_InFrame|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11						endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						AGAGGAGAACGATGTTTAACT	0.592			T	NUP98	AML								8	20					0	0	0	0	A	54367025	G	A	54367025	1	1	317	1	0	0	0	0	0	0	0	0	7360	1073	37	1		1	HOXC11	12	54367025	Translation_Start_Site	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1399840	54367025	79484870	289	56622											
ESYT1	23344	broad.mit.edu	37	chr12	56531676	56531676	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagtctttgacaaggacttgGacaaggatgattttctgggc	11	12	12	6	0	2	2	0	2	2	0	2	5	2	5	0	4	0	0	0	4	3	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:56531676G>C	ENST00000394048.5	+	19	2440	c.2176G>C	c.(2176-2178)Gac>Cac	p.D726H	ESYT1_ENST00000541590.1_Missense_Mutation_p.D736H|ESYT1_ENST00000267113.4_Missense_Mutation_p.D736H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	726	C2 3.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CAAGGACTTGGACAAGGATGA	0.488													18	53					0	0	0	0	C	56531676	G	C	56531676	3	2	317	1	0	0	0	0	1	0	0	0	5302	1174	41	2	2280	2	ESYT1	12	56531676	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2164651	56531676	77320219	290	56623											
SLC26A10	65012	broad.mit.edu	37	chr12	58018660	58018660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acctcttagctcctccaggtCccggggctctgcatcctgag	5	10	10	16	1	2	1	0	1	2	0	6	1	6	1	5	3	2	3	5	3	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:58018660C>T	ENST00000379218.2	+	11	1657	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000320442.4_Silent_p.V413V			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	0	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCCTCCAGGTCCCGGGGCTCT	0.587													19	69					0	0	0	0	T	58018660	C	T	58018660	3	4	317	1	0	0	0	0	1	0	0	0	14603	842	30	2	1277	2	SLC26A10	12	58018660	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1486984	58018660	75833235	291	56624											
MSRB3	253827	broad.mit.edu	37	chr12	65722331	65722331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaggagaatacacacatCacaaagatcctggaatatat	18	9	7	7	0	1	3	1	1	0	2	2	5	2	4	1	2	1	0	1	2	7	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:65722331C>T	ENST00000308259.5	+	4	485	c.211C>T	c.(211-213)Cac>Tac	p.H71Y	MSRB3_ENST00000535664.1_Missense_Mutation_p.H71Y|MSRB3_ENST00000355192.3_Missense_Mutation_p.H78Y|MSRB3_ENST00000540804.1_Missense_Mutation_p.H78Y	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	78					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		ATACACACATCACAAAGATCC	0.299													9	46					0	0	0	0	T	65722331	C	T	65722331	3	4	317	1	0	0	0	0	1	0	0	0	9959	826	29	2	322	2	MSRB3	12	65722331	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	7703671	65722331	68129564	292	56625											
CAND1	55832	broad.mit.edu	37	chr12	67699870	67699870	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtgtagctgcccttactCgagcatgccctaaagaggga	11	9	11	10	1	0	1	0	0	0	1	1	3	0	2	2	1	5	3	2	1	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:67699870C>T	ENST00000545606.1	+	10	2859	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	808					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGCCCTTACTCGAGCATGCCC	0.443													31	50					0	0	0	0	T	67699870	C	T	67699870	4	4	317	1	0	0	0	0	0	1	0	0	2640	876	31	1	2460	1	CAND1	12	67699870	Nonsense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1977539	67699870	66152025	293	56626											
PTPRB	5787	broad.mit.edu	37	chr12	70983837	70983837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccggtacgagccccgtgtCatccatgacatactgtgttt	7	12	9	13	3	1	1	1	1	0	0	3	2	3	1	4	1	3	2	4	1	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:70983837C>T	ENST00000334414.6	-	8	2001	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	PTPRB_ENST00000538708.1_Missense_Mutation_p.D435N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000261266.5_Missense_Mutation_p.D435N|PTPRB_ENST00000551525.1_Missense_Mutation_p.D652N|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000550358.1_Missense_Mutation_p.D653N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	435	Fibronectin type-III 8.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCCCCGTGTCATCCATGACA	0.493											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	102					0	0	0	0	T	70983837	C	T	70983837	3	4	317	1	0	0	0	0	1	0	0	0	12878	826	29	2	4798	2	PTPRB	12	70983837	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	3283967	70983837	62868058	294	56627											
KCNC2	3747	broad.mit.edu	37	chr12	75444683	75444683	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatgtccaagcaccctcaGacctacaaaatggcgggtga	13	7	10	11	1	1	2	1	1	0	1	2	2	2	2	3	2	2	2	3	2	5	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:75444683G>A	ENST00000549446.1	-	3	1782	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	KCNC2_ENST00000341669.3_Silent_p.L368L|KCNC2_ENST00000548513.1_Silent_p.L368L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000298972.1_Silent_p.L368L|KCNC2_ENST00000393288.2_Silent_p.L368L|KCNC2_ENST00000550433.1_Silent_p.L368L|KCNC2_ENST00000350228.2_Silent_p.L368L|KCNC2_ENST00000540018.1_Silent_p.L368L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	368					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AGCACCCTCAGACCTACAAAA	0.438													19	25					0	0	0	0	A	75444683	G	A	75444683	2	1	317	1	0	0	0	0	0	0	0	1	8068	933	33	2		2	KCNC2	12	75444683	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4460846	75444683	58407212	295	56628											
ACSS3	79611	broad.mit.edu	37	chr12	81613830	81613830	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgcaaaaactgaaggctCggtgtttaggaaatattgtg	14	11	11	5	1	0	1	0	1	0	0	1	2	0	2	0	3	2	3	0	3	6	4	rs142377880		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:81613830C>A	ENST00000548058.1	+	11	2399	c.1489C>A	c.(1489-1491)Cgg>Agg	p.R497R	ACSS3_ENST00000548324.1_Silent_p.R179R|ACSS3_ENST00000261206.3_Silent_p.R496R			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	497						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ACTGAAGGCTCGGTGTTTAGG	0.269													7	48					4.68919e-08	4.95106e-08	1	0	A	81613830	C	A	81613830	2	1	317	1	0	0	0	0	0	0	0	1	190	875	31	3		3	ACSS3	12	81613830	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	6169147	81613830	52238065	296	56629											
FGD6	55785	broad.mit.edu	37	chr12	95478362	95478362	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactttagactcggaattctCatctttaacttgaataacag	13	15	5	8	1	2	2	1	1	2	1	4	3	2	3	0	1	3	0	0	1	6	8			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:95478362C>G	ENST00000343958.4	-	20	4391	c.4168G>C	c.(4168-4170)Gag>Cag	p.E1390Q		NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1390	PH 2.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCGGAATTCTCATCTTTAACT	0.343													25	39					0	0	0	0	G	95478362	C	G	95478362	3	3	317	1	0	0	0	0	1	0	0	0	5882	835	29	2	132	2	FGD6	12	95478362	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	13864532	95478362	38373533	297	56630											
ACACB	32	broad.mit.edu	37	chr12	109613984	109613984	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagaattggttttccattGatgatcaaagcttctgaagg	13	13	10	5	0	2	4	1	3	1	1	3	5	3	4	1	2	1	2	1	2	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:109613984G>C	ENST00000338432.7	+	9	1472	c.1353G>C	c.(1351-1353)ttG>ttC	p.L451F	ACACB_ENST00000377854.5_Missense_Mutation_p.L451F|ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377848.3_Missense_Mutation_p.L451F			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	451	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GTTTTCCATTGATGATCAAAG	0.512													119	164					0	0	0	0	C	109613984	G	C	109613984	3	2	317	1	0	0	0	0	1	0	0	0	107	1281	45	2	1383	2	ACACB	12	109613984	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	14135622	109613984	24237911	298	56631											
IFT81	28981	broad.mit.edu	37	chr12	110628776	110628776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatatagttacacccaagaaGagctagaaagagtatctgca	17	8	9	7	0	1	4	0	0	1	4	1	5	1	4	1	0	3	4	1	0	8	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:110628776G>C	ENST00000242591.5	+	13	1896	c.1390G>C	c.(1390-1392)Gag>Cag	p.E464Q	IFT81_ENST00000552912.1_Missense_Mutation_p.E464Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	464					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						CACCCAAGAAGAGCTAGAAAG	0.338													20	48					0	0	0	0	C	110628776	G	C	110628776	3	2	317	1	0	0	0	0	1	0	0	0	7618	943	33	2	1548	2	IFT81	12	110628776	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1014792	110628776	23223119	299	56632											
IFT81	28981	broad.mit.edu	37	chr12	110628806	110628806	+	Frame_Shift_Del	DEL	G	G	-																															gagtatctgcactgaagagtGaagttgatgaaatgaaagga																										TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:110628806delG	ENST00000242591.5	+	13	1926	c.1420delG	c.(1420-1422)aafs	p.E474fs	IFT81_ENST00000552912.1_Frame_Shift_Del_p.E474fs	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	474					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						ACTGAAGAGTGAAGTTGATGA	0.333													34	76	---	---	---	---					-	110628806	G	-	110628806	7	5	317	1	0	1	0	1	0	0	0	0	7618	1291	45	0	1578	0	IFT81	12	110628806	Frame_Shift_Del	DEL	G	TCGA-CV-7427-01A-11D-2078-08	30	110628806	23223089	300	56633											
FBXO21	23014	broad.mit.edu	37	chr12	117603392	117603392	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagagatccagcgagtctctCaggagctggtatgactggtc	9	10	13	9	1	2	2	1	1	1	1	5	5	3	3	1	3	2	2	1	3	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:117603392C>T	ENST00000427718.2	-	9	1298	c.1224G>A	c.(1222-1224)ctG>ctA	p.L408L	FBXO21_ENST00000330622.5_Silent_p.L408L	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	408					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.L408L(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GCGAGTCTCTCAGGAGCTGGT	0.507													7	59					0	0	0	0	T	117603392	C	T	117603392	2	4	317	1	0	0	0	0	0	0	0	1	5778	813	29	2		2	FBXO21	12	117603392	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	6974586	117603392	16248503	301	56634											
P2RX4	5025	broad.mit.edu	37	chr12	121670829	121670829	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgtgacatcatagtcctCtactgcatgaagaaaagact	13	11	8	9	0	2	4	1	2	1	2	3	4	3	4	1	0	2	1	1	0	5	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:121670829C>T	ENST00000337233.4	+	11	1382	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	P2RX4_ENST00000543171.1_Silent_p.L257L|P2RX4_ENST00000359949.7_Silent_p.L374L	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	358					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCATAGTCCTCTACTGCATGA	0.507													21	232					0	0	0	0	T	121670829	C	T	121670829	2	4	317	1	0	0	0	0	0	0	0	1	11413	900	32	2		2	P2RX4	12	121670829	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	4067437	121670829	12181066	302	56635											
P2RX4	5025	broad.mit.edu	37	chr12	121670850	121670850	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactgcatgaagaaaagactCtactatcgggagaagaaata	18	8	9	6	1	1	5	0	1	1	4	2	6	1	5	0	1	3	1	0	1	9	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:121670850C>G	ENST00000337233.4	+	11	1403	c.1095C>G	c.(1093-1095)ctC>ctG	p.L365L	P2RX4_ENST00000543171.1_Silent_p.L264L|P2RX4_ENST00000359949.7_Silent_p.L381L	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	365					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAAAAGACTCTACTATCGGG	0.512													18	202					0	0	0	0	G	121670850	C	G	121670850	2	3	317	1	0	0	0	0	0	0	0	1	11413	900	32	2		2	P2RX4	12	121670850	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	21	121670850	12181045	303	56636											
UBC	7316	broad.mit.edu	37	chr12	125398224	125398224	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagggatgccttccttatCttggatctttgccttgacat	7	15	10	9	0	2	1	0	1	2	0	3	4	3	4	3	3	2	0	3	3	1	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:125398224C>G	ENST00000536769.1	-	1	1670	c.94G>C	c.(94-96)Gat>Cat	p.D32H	UBC_ENST00000339647.5_Missense_Mutation_p.D32H|UBC_ENST00000536661.1_5'UTR|UBC_ENST00000546120.1_Missense_Mutation_p.D32H|UBC_ENST00000538617.1_Missense_Mutation_p.D32H			P0CG48	UBC_HUMAN	ubiquitin C	32	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCTTCCTTATCTTGGATCTTT	0.502													13	175					0	0	0	0	G	125398224	C	G	125398224	3	3	317	1	0	0	0	0	1	0	0	0	16938	913	32	2	1967	2	UBC	12	125398224	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	3727374	125398224	8453671	304	56637											
TMEM132D	121256	broad.mit.edu	37	chr12	129569056	129569056	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acccacctcctgctggagacGatgggcactctccaaccctt	8	8	8	17	1	1	1	0	0	1	1	3	3	2	1	5	2	2	2	5	2	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:129569056G>C	ENST00000422113.2	-	6	1961	c.1635C>G	c.(1633-1635)atC>atG	p.I545M	TMEM132D_ENST00000389441.4_Missense_Mutation_p.I83M	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	545						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGCTGGAGACGATGGGCACTC	0.592													5	11					0	0	0	0	C	129569056	G	C	129569056	3	2	317	1	0	0	0	0	1	0	0	0	16141	1048	37	3	1680	3	TMEM132D	12	129569056	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4170832	129569056	4282839	305	56638											
GJA3	2700	broad.mit.edu	37	chr13	20716822	20716822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccagcatgaagatgatgaaGatggtcttctccgtgggcct	9	10	13	9	1	2	5	0	3	2	2	3	5	2	5	3	2	1	1	3	2	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:20716822G>C	ENST00000241125.3	-	2	782	c.606C>G	c.(604-606)atC>atG	p.I202M		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	202					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGATGATGAAGATGGTCTTCT	0.612													13	36					0	0	0	0	C	20716822	G	C	20716822	3	2	317	1	0	0	0	0	1	0	0	0	6453	932	33	2	705	2	GJA3	13	20716822	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08		20716822	94453056	306	56639											
SACS	26278	broad.mit.edu	37	chr13	23912713	23912713	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatccttctgaacacatggtGaaattcttccactgtgatct	11	14	6	10	0	3	3	0	3	3	0	5	3	5	3	2	1	1	0	2	1	3	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:23912713G>C	ENST00000382298.3	-	10	5890	c.5302C>G	c.(5302-5304)Cac>Gac	p.H1768D	SACS_ENST00000382292.3_Missense_Mutation_p.H1768D|SACS_ENST00000402364.1_Missense_Mutation_p.H1018D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1768					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACACATGGTGAAATTCTTCC	0.443													22	140					0	0	0	0	C	23912713	G	C	23912713	3	2	317	1	0	0	0	0	1	0	0	0	13889	1290	45	2	8441	2	SACS	13	23912713	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	3195891	23912713	91257165	307	56640											
PARP4	143	broad.mit.edu	37	chr13	25026704	25026704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggagtgttttccagaagtCtgtgttccccatggtaggtg	6	14	13	8	1	1	1	0	0	1	1	4	2	3	2	3	3	0	3	3	3	2	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:25026704C>T	ENST00000381989.3	-	24	2959	c.2854G>A	c.(2854-2856)Gac>Aac	p.D952N		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	952	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTCCAGAAGTCTGTGTTCCCC	0.488													20	62					0	0	0	0	T	25026704	C	T	25026704	3	4	317	1	0	0	0	0	1	0	0	0	11534	913	32	2	2364	2	PARP4	13	25026704	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1113991	25026704	90143174	308	56641											
ATP8A2	51761	broad.mit.edu	37	chr13	26125501	26125501	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccaaagcgcctctcaagaGatcaaatgttgagaaggtga	16	7	10	8	1	2	3	2	2	1	2	3	5	2	3	2	1	2	1	2	1	5	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:26125501G>C	ENST00000381655.2	+	11	1059	c.917G>C	c.(916-918)aGa>aCa	p.R306T	ATP8A2_ENST00000255283.8_Missense_Mutation_p.R266T	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	266					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCTCTCAAGAGATCAAATGTT	0.507													9	33					0	0	0	0	C	26125501	G	C	26125501	3	2	317	1	0	0	0	0	1	0	0	0	1197	942	33	2	959	2	ATP8A2	13	26125501	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1098797	26125501	89044377	309	56642											
MTIF3	219402	broad.mit.edu	37	chr13	28009980	28009980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcttgtggcctagatgaGaatgtagctattccaggcat	11	11	11	8	0	0	2	0	1	0	2	1	3	1	2	2	2	2	4	2	2	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:28009980G>C	ENST00000381116.1	-	7	903	c.669C>G	c.(667-669)ttC>ttG	p.F223L	MTIF3_ENST00000431572.2_Missense_Mutation_p.F223L|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Missense_Mutation_p.F223L|MTIF3_ENST00000405591.2_Missense_Mutation_p.F223L			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	223					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		GCCTAGATGAGAATGTAGCTA	0.383													19	61					0	0	0	0	C	28009980	G	C	28009980	3	2	317	1	0	0	0	0	1	0	0	0	10005	933	33	2	171	2	MTIF3	13	28009980	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1884479	28009980	87159898	310	56643											
NBEA	26960	broad.mit.edu	37	chr13	35751193	35751193	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatccggatagacttcttCaggatgttgatatcaatcgc	11	12	10	8	2	3	2	2	1	1	1	5	5	4	5	1	3	0	1	1	3	3	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:35751193C>T	ENST00000540320.1	+	28	5149	c.4615C>T	c.(4615-4617)Cag>Tag	p.Q1539*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q1536*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q1539*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.Q1539*			Q8NFP9	NBEA_HUMAN	neurobeachin	1539						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGACTTCTTCAGGATGTTGA	0.363													3	8					0	0	0	0	T	35751193	C	T	35751193	4	4	317	1	0	0	0	0	0	1	0	0	10257	827	29	2	4725	2	NBEA	13	35751193	Nonsense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	7741213	35751193	79418685	311	56644											
AKAP11	11215	broad.mit.edu	37	chr13	42876840	42876840	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaagtggatccgtttattCtttcattaccaccaagttct	10	15	7	9	1	3	1	1	0	2	1	4	3	4	2	3	1	1	2	3	1	4	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:42876840C>G	ENST00000025301.2	+	8	4133	c.3958C>G	c.(3958-3960)Ctt>Gtt	p.L1320V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1320					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCCGTTTATTCTTTCATTACC	0.398													5	45					0	0	0	0	G	42876840	C	G	42876840	3	3	317	1	0	0	0	0	1	0	0	0	447	913	32	2	3980	2	AKAP11	13	42876840	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	7125647	42876840	72293038	312	56645											
LCP1	3936	broad.mit.edu	37	chr13	46733075	46733075	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaggcaagcaagcagccttGaacaagtcattcaactcatt	16	8	7	10	0	3	1	3	1	0	0	3	1	3	1	1	1	5	3	1	1	6	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:46733075G>C	ENST00000398576.2	-	6	502	c.114C>G	c.(112-114)ttC>ttG	p.F38L	LCP1_ENST00000323076.2_Missense_Mutation_p.F38L			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	38	EF-hand 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AAGCAGCCTTGAACAAGTCAT	0.433			T	BCL6	NHL								31	90					0	0	0	0	C	46733075	G	C	46733075	3	2	317	1	0	0	0	0	1	0	0	0	8744	1281	45	2	1825	2	LCP1	13	46733075	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	3856235	46733075	68436803	313	56646											
SUCLA2	8803	broad.mit.edu	37	chr13	48563043	48563043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actatcttcactcctcctttGaggccactttcaaatgttcc	8	15	4	14	0	3	1	2	1	1	0	6	1	6	1	4	1	0	1	4	1	2	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:48563043G>A	ENST00000378654.3	-	3	401	c.345C>T	c.(343-345)ctC>ctT	p.L115L	SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000534875.1_Silent_p.L57L|SUCLA2_ENST00000543413.1_Silent_p.L57L	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	115	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CTCCTCCTTTGAGGCCACTTT	0.328													37	118					0	0	0	0	A	48563043	G	A	48563043	2	1	317	1	0	0	0	0	0	0	0	1	15453	1277	45	2		2	SUCLA2	13	48563043	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1829968	48563043	66606835	314	56647											
PCDH17	27253	broad.mit.edu	37	chr13	58207078	58207078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgacaacgcgccctccttctCctcggaccagatcgaaatgg	9	7	9	16	5	1	1	0	0	1	1	5	4	2	2	4	2	1	0	4	2	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:58207078C>G	ENST00000377918.3	+	1	424	c.398C>G	c.(397-399)tCc>tGc	p.S133C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	133	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCTCCTTCTCCTCGGACCAG	0.612													6	11					0	0	0	0	G	58207078	C	G	58207078	3	3	317	1	0	0	0	0	1	0	0	0	11583	855	30	2	400	2	PCDH17	13	58207078	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	9644035	58207078	56962800	315	56648											
MYCBP2	23077	broad.mit.edu	37	chr13	77633702	77633702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgccaacagcagataactCtgttccactcctggaaccac	12	8	6	15	0	1	1	0	0	1	1	3	2	3	2	4	1	5	2	4	1	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:77633702C>T	ENST00000407578.2	-	77	13362	c.13096G>A	c.(13096-13098)Gag>Aag	p.E4366K	MYCBP2_ENST00000544440.2_Missense_Mutation_p.E4328K|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E4328K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAGATAACTCTGTTCCACTC	0.463													8	67					0	0	0	0	T	77633702	C	T	77633702	3	4	317	1	0	0	0	0	1	0	0	0	10088	922	32	2	968	2	MYCBP2	13	77633702	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	19426624	77633702	37536176	316	56649											
MYCBP2	23077	broad.mit.edu	37	chr13	77699528	77699528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctagctaaggaccatgcctCtccttcatcactctcacaga	10	11	5	15	0	5	1	3	0	3	1	7	2	5	2	3	1	2	1	3	1	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:77699528C>G	ENST00000407578.2	-	54	8226	c.7960G>C	c.(7960-7962)Gag>Cag	p.E2654Q	MYCBP2_ENST00000544440.2_Missense_Mutation_p.E2616Q|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E2616Q|MYCBP2_ENST00000360084.5_Missense_Mutation_p.E79Q	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GACCATGCCTCTCCTTCATCA	0.433													43	162					0	0	0	0	G	77699528	C	G	77699528	3	3	317	1	0	0	0	0	1	0	0	0	10088	922	32	2	6196	2	MYCBP2	13	77699528	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	65826	77699528	37470350	317	56650											
COL4A2	1284	broad.mit.edu	37	chr13	111077163	111077163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggactgcagggacgtaaagGagacaagggtgaaaggggag	14	3	20	4	1	0	2	0	1	0	1	0	6	0	5	0	6	1	2	0	6	4	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:111077163G>A	ENST00000360467.5	+	5	569	c.263G>A	c.(262-264)gGa>gAa	p.G88E		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	88					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGACGTAAAGGAGACAAGGGT	0.627													13	41					0	0	0	0	A	111077163	G	A	111077163	3	1	317	1	0	0	0	0	1	0	0	0	3720	1174	41	2	277	2	COL4A2	13	111077163	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	33377635	111077163	4092715	318	56651											
ADPRHL1	113622	broad.mit.edu	37	chr13	114079395	114079395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctgcatcataattgTcggggaagatggctttattt	8	17	9	7	1	3	1	1	0	2	1	5	2	3	2	0	3	1	2	0	3	3	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:114079395T>C	ENST00000356501.4	-	5	675	c.500A>G	c.(499-501)gAc>gGc	p.D167G	ADPRHL1_ENST00000375418.3_Missense_Mutation_p.D249G	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	249					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			ATCATAATTGTCGGGGAAGAT	0.438													15	69					0	0	0	0	C	114079395	T	C	114079395	3	2	317	1	0	0	0	0	1	0	0	0	332	1667	58	5	330	5	ADPRHL1	13	114079395	Missense_Mutation	SNP	T	TCGA-CV-7427-01A-11D-2078-08	3002232	114079395	1090483	319	56652											
RASA3	22821	broad.mit.edu	37	chr13	114781703	114781703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaggttttctccgtctttCaacttcacagggtcgatttc	7	16	7	11	2	5	0	3	0	2	0	8	1	5	0	1	2	1	1	1	2	2	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:114781703C>T	ENST00000334062.7	-	13	1372	c.1251G>A	c.(1249-1251)ttG>ttA	p.L417L	RASA3_ENST00000389544.4_Silent_p.L385L	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	417	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.L417L(1)|p.L417F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTCCGTCTTTCAACTTCACAG	0.517													10	44					0	0	0	0	T	114781703	C	T	114781703	2	4	317	1	0	0	0	0	0	0	0	1	13144	825	29	2		2	RASA3	13	114781703	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	702308	114781703	388175	320	56653											
L2HGDH	79944	broad.mit.edu	37	chr14	50734600	50734600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccttggtgtgaagtgaactCctaggaaaggaaaccggcta	12	9	12	8	1	0	2	0	2	0	0	2	4	2	4	3	4	2	1	3	4	6	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:50734600C>T	ENST00000267436.4	-	8	1332	c.935G>A	c.(934-936)gGa>gAa	p.G312E	L2HGDH_ENST00000421284.3_Missense_Mutation_p.G312E|L2HGDH_ENST00000261699.4_Missense_Mutation_p.G312E			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	312					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					GAAGTGAACTCCTAGGAAAGG	0.423													27	65					0	0	0	0	T	50734600	C	T	50734600	3	4	317	1	0	0	0	0	1	0	0	0	8643	855	30	2	468	2	L2HGDH	14	50734600	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08		50734600	56614940	321	56654											
DAAM1	23002	broad.mit.edu	37	chr14	59821922	59821922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggtgtttaggagtggtgCcctcaagcagttgctggagg	8	10	17	6	0	1	1	1	0	0	1	1	3	1	3	1	5	3	4	1	5	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:59821922C>T	ENST00000395125.1	+	20	2449	c.2426C>T	c.(2425-2427)gCc>gTc	p.A809V	DAAM1_ENST00000360909.3_Missense_Mutation_p.A799V|DAAM1_ENST00000553966.1_Intron|DAAM1_ENST00000351081.1_Missense_Mutation_p.A809V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	809	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGGAGTGGTGCCCTCAAGCAG	0.378													40	118					0	0	0	0	T	59821922	C	T	59821922	3	4	317	1	0	0	0	0	1	0	0	0	4248	739	26	4	2504	4	DAAM1	14	59821922	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	9087322	59821922	47527618	322	56655											
SYNE2	23224	broad.mit.edu	37	chr14	64691209	64691209	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacccctgcccagcttcgacGaggtagactcgggggaccag	8	5	13	15	3	0	1	0	0	0	1	2	4	0	2	4	3	2	2	4	3	1	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:64691209G>C	ENST00000357395.3	+	114	20643	c.9499G>C	c.(9499-9501)Gag>Cag	p.E3167Q	SYNE2_ENST00000344113.4_Missense_Mutation_p.E6782Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.E327Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6698Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.E453Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3439Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.E660Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E3167Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.E565Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6805Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6782					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGCTTCGACGAGGTAGACTC	0.517													9	83					0	0	0	0	C	64691209	G	C	64691209	3	2	317	1	0	0	0	0	1	0	0	0	15537	1059	37	3	20905	3	SYNE2	14	64691209	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4869287	64691209	42658331	323	56656											
SLC8A3	6547	broad.mit.edu	37	chr14	70518823	70518823	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccatagtcagcttcctgtCtgtcacatctgcaacaaaac	11	12	5	13	0	4	0	2	0	2	0	6	0	6	0	2	0	4	2	2	0	4	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:70518823C>G	ENST00000381269.2	-	5	2668	c.1915G>C	c.(1915-1917)Gac>Cac	p.D639H	SLC8A3_ENST00000216568.7_Missense_Mutation_p.D10H|SLC8A3_ENST00000528359.1_Splice_Site|SLC8A3_ENST00000394330.2_5'UTR|SLC8A3_ENST00000534137.1_Splice_Site|SLC8A3_ENST00000357887.3_Splice_Site|SLC8A3_ENST00000533541.1_5'UTR|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D633H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	639					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGCTTCCTGTCTGTCACATCT	0.458													24	59					0	0	0	0	G	70518823	C	G	70518823	3	3	317	1	0	0	0	0	1	0	0	0	14796	927	32	2	884	2	SLC8A3	14	70518823	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	5827614	70518823	36830717	324	56657											
YLPM1	56252	broad.mit.edu	37	chr14	75279341	75279341	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggaatcctaggagaacgaagGacttatcctgaggagcgaat	14	7	13	7	2	0	2	0	1	0	1	2	8	2	5	2	4	2	0	2	4	6	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:75279341G>C	ENST00000325680.7	+	11	5482	c.5358G>C	c.(5356-5358)agG>agC	p.R1786S	YLPM1_ENST00000552421.1_Missense_Mutation_p.R1080S|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1591S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAGAACGAAGGACTTATCCTG	0.443													5	8					0	0	0	0	C	75279341	G	C	75279341	3	2	317	1	0	0	0	0	1	0	0	0	17582	1165	41	2	5400	2	YLPM1	14	75279341	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4760518	75279341	32070199	325	56658											
C14orf166B	145497	broad.mit.edu	37	chr14	77319682	77319682	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctggatatcggtggcaatGacatcggcaatgaaggggcc	11	7	14	9	2	0	2	0	2	0	0	2	3	0	3	2	6	0	2	2	6	4	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:77319682G>C	ENST00000393774.3	+	9	1061	c.937G>C	c.(937-939)Gac>Cac	p.D313H		NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	313										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CGGTGGCAATGACATCGGCAA	0.532													12	36					0	0	0	0	C	77319682	G	C	77319682	3	2	317	1	0	0	0	0	1	0	0	0	1769	1290	45	2	971	2	C14orf166B	14	77319682	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2040341	77319682	30029858	326	56659											
C14orf166B	145497	broad.mit.edu	37	chr14	77319694	77319694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggcaatgacatcggcaatGaaggggcctccaaaatcagc	13	6	12	10	1	1	2	1	2	0	0	3	2	2	2	2	4	1	2	2	4	5	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:77319694G>A	ENST00000393774.3	+	9	1073	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	317										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CATCGGCAATGAAGGGGCCTC	0.532													7	26					0	0	0	0	A	77319694	G	A	77319694	3	1	317	1	0	0	0	0	1	0	0	0	1769	1291	45	2	983	2	C14orf166B	14	77319694	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	12	77319694	30029846	327	56660											
PTPN21	11099	broad.mit.edu	37	chr14	88935898	88935898	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaggccagtctgtgtattgGaggtgccagacggtcctctc	6	11	13	11	1	3	1	1	0	2	1	5	2	4	2	3	4	1	1	3	4	1	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:88935898G>T	ENST00000556564.1	-	17	3464	c.3180C>A	c.(3178-3180)ctC>ctA	p.L1060L	PTPN21_ENST00000328736.3_Silent_p.L1060L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1060	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGTGTATTGGAGGTGCCAGA	0.537													5	53					2.7689e-08	2.93892e-08	1	0	T	88935898	G	T	88935898	2	4	317	1	0	0	0	0	0	0	0	1	12868	1161	41	2		2	PTPN21	14	88935898	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	11616204	88935898	18413642	328	56661											
DDX24	57062	broad.mit.edu	37	chr14	94528623	94528623	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagattttcctcctcattctCattctgtttgggaacaggtt	8	17	7	9	0	3	1	2	0	2	1	6	2	5	2	2	2	1	2	2	2	2	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:94528623C>G	ENST00000330836.5	-	3	1194	c.1063G>C	c.(1063-1065)Gag>Cag	p.E355Q	DDX24_ENST00000555054.1_Missense_Mutation_p.E312Q|DDX24_ENST00000544005.1_Missense_Mutation_p.E105Q	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	355	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCCTCATTCTCATTCTGTTTG	0.483													23	70					0	0	0	0	G	94528623	C	G	94528623	3	3	317	1	0	0	0	0	1	0	0	0	4383	835	29	2	1544	2	DDX24	14	94528623	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	5592725	94528623	12820917	329	56662											
SETD3	84193	broad.mit.edu	37	chr14	99929847	99929847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctttttccgtattttctCaaccagagtccggatctgca	7	16	7	11	2	2	1	1	0	2	1	5	2	4	2	3	1	3	3	3	1	2	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:99929847C>G	ENST00000331768.5	-	3	331	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	SETD3_ENST00000436070.2_Missense_Mutation_p.E58Q|SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000329331.3_Missense_Mutation_p.E58Q	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	58					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CGTATTTTCTCAACCAGAGTC	0.413													4	22					0	0	0	0	G	99929847	C	G	99929847	3	3	317	1	0	0	0	0	1	0	0	0	14219	835	29	2	1702	2	SETD3	14	99929847	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	5401224	99929847	7419693	330	56663											
EML1	2009	broad.mit.edu	37	chr14	100405558	100405558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggccagaaggctcggacgGaaccgacatcaatgccgtct	10	6	13	12	4	2	1	1	0	1	1	3	4	2	3	3	4	2	1	3	4	3	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:100405558G>A	ENST00000262233.6	+	21	2355	c.2216G>A	c.(2215-2217)gGa>gAa	p.G739E	EML1_ENST00000327921.9_Missense_Mutation_p.G727E|EML1_ENST00000334192.4_Missense_Mutation_p.G758E	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	739						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGCTCGGACGGAACCGACATC	0.587													4	40					0	0	0	0	A	100405558	G	A	100405558	3	1	317	1	0	0	0	0	1	0	0	0	5134	1174	41	2	2359	2	EML1	14	100405558	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	475711	100405558	6943982	331	56664											
EML1	2009	broad.mit.edu	37	chr14	100405590	100405590	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgccgtctgtcgggcccatGagaagaaactcctgtcaaca	11	8	10	12	2	2	2	1	1	1	2	4	3	3	2	3	1	3	0	3	1	3	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:100405590G>C	ENST00000262233.6	+	21	2387	c.2248G>C	c.(2248-2250)Gag>Cag	p.E750Q	EML1_ENST00000327921.9_Missense_Mutation_p.E738Q|EML1_ENST00000334192.4_Missense_Mutation_p.E769Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	750						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCGGGCCCATGAGAAGAAACT	0.537													4	33					0	0	0	0	C	100405590	G	C	100405590	3	2	317	1	0	0	0	0	1	0	0	0	5134	1291	45	2	2391	2	EML1	14	100405590	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	32	100405590	6943950	332	56665											
DYNC1H1	1778	broad.mit.edu	37	chr14	102455173	102455173	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agttagtcacaagcctggtgGagagccaaagatcaaagtga	15	7	12	7	0	2	3	2	1	0	2	2	4	2	3	2	2	2	1	2	2	4	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:102455173G>C	ENST00000360184.4	+	10	3016	c.2852G>C	c.(2851-2853)gGa>gCa	p.G951A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	951	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAGCCTGGTGGAGAGCCAAAG	0.428													11	30					0	0	0	0	C	102455173	G	C	102455173	3	2	317	1	0	0	0	0	1	0	0	0	4877	1174	41	2	2890	2	DYNC1H1	14	102455173	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2049583	102455173	4894367	333	56666											
HSP90AA1	3320	broad.mit.edu	37	chr14	102549502	102549502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctttggtgactgacaCtaaagtcttcccctcaaatt	9	14	6	12	0	3	2	1	2	2	0	4	2	4	2	3	1	0	0	3	1	3	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:102549502C>T	ENST00000334701.7	-	10	2271	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.V363M|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.V542M	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	542					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GTGACTGACACTAAAGTCTTC	0.418													22	77					0	0	0	0	T	102549502	C	T	102549502	3	4	317	1	0	0	0	0	1	0	0	0	7453	565	20	4	586	4	HSP90AA1	14	102549502	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	94329	102549502	4800038	334	56667											
TNFAIP2	7127	broad.mit.edu	37	chr14	103596165	103596165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaggcagatccgactgctgGaggccacattcctgtccagt	8	8	11	14	1	0	1	0	0	0	1	3	3	3	2	5	3	1	2	5	3	0	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:103596165G>A	ENST00000560869.1	+	4	1588	c.949G>A	c.(949-951)Gag>Aag	p.E317K	TNFAIP2_ENST00000451723.2_Intron|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.E317K			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	317					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CCGACTGCTGGAGGCCACATT	0.662													7	19					0	0	0	0	A	103596165	G	A	103596165	3	1	317	1	0	0	0	0	1	0	0	0	16367	1175	41	2	959	2	TNFAIP2	14	103596165	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1046663	103596165	3753375	335	56668											
KLC1	3831	broad.mit.edu	37	chr14	104129155	104129155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgcctcgcaggggcgctacGaggtagctgtgcccctctgc	5	7	14	15	4	1	0	0	0	1	0	2	1	1	0	3	3	4	4	3	3	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:104129155G>A	ENST00000389744.4	+	5	957	c.688G>A	c.(688-690)Gag>Aag	p.E230K	KLC1_ENST00000555836.1_Missense_Mutation_p.E230K|KLC1_ENST00000445352.4_Missense_Mutation_p.E230K|KLC1_ENST00000553286.1_Missense_Mutation_p.E230K|KLC1_ENST00000334553.6_Missense_Mutation_p.E230K|KLC1_ENST00000246489.7_Missense_Mutation_p.E230K|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.E402K|KLC1_ENST00000452929.2_Missense_Mutation_p.E230K|KLC1_ENST00000554280.1_Missense_Mutation_p.E230K|KLC1_ENST00000380038.3_Missense_Mutation_p.E230K|KLC1_ENST00000557450.1_Missense_Mutation_p.E230K|KLC1_ENST00000348520.6_Missense_Mutation_p.E230K|KLC1_ENST00000347839.6_Missense_Mutation_p.E230K|KLC1_ENST00000557575.1_Missense_Mutation_p.E230K			Q07866	KLC1_HUMAN	kinesin light chain 1	230					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GGGGCGCTACGAGGTAGCTGT	0.672													9	19					0	0	0	0	A	104129155	G	A	104129155	3	1	317	1	0	0	0	0	1	0	0	0	8385	1059	37	1	702	1	KLC1	14	104129155	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	532990	104129155	3220385	336	56669											
OIP5	11339	broad.mit.edu	37	chr15	41602045	41602045	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttagcactatcttctctttCagctaggaagagaaatatat	13	14	7	7	0	3	1	1	0	2	1	4	3	3	2	0	1	2	3	0	1	7	7			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:41602045C>G	ENST00000220514.3	-	5	656	c.597G>C	c.(595-597)ctG>ctC	p.L199L		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	199					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TCTTCTCTTTCAGCTAGGAAG	0.393													20	54					0	0	0	0	G	41602045	C	G	41602045	2	3	317	1	0	0	0	0	0	0	0	1	10919	813	29	2		2	OIP5	15	41602045	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08		41602045	60929347	337	56670											
CKMT1B	1159	broad.mit.edu	37	chr15	43891383	43891383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtgcaactggtcatcgatgGagtaaactatttgattgatt	11	14	11	5	1	1	2	1	2	0	0	2	4	1	3	0	3	3	2	0	3	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:43891383G>C	ENST00000300283.6	+	10	1558	c.1166G>C	c.(1165-1167)gGa>gCa	p.G389A	CKMT1B_ENST00000441322.1_Missense_Mutation_p.G389A	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	389	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GTCATCGATGGAGTAAACTAT	0.488													55	119					0	0	0	0	C	43891383	G	C	43891383	3	2	317	1	0	0	0	0	1	0	0	0	3480	1174	41	2	1200	2	CKMT1B	15	43891383	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2289338	43891383	58640009	338	56671											
SECISBP2L	9728	broad.mit.edu	37	chr15	49327631	49327631	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagtgcattctgtggtgAtagcatttacagtatttgca	9	15	10	7	0	2	1	1	1	1	0	2	1	2	1	0	1	4	5	0	1	3	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:49327631A>G	ENST00000559471.1	-	3	691	c.428T>C	c.(427-429)aTc>aCc	p.I143T	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.I143T	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	143										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTCTGTGGTGATAGCATTTAC	0.483													24	95					0	0	0	0	G	49327631	A	G	49327631	3	3	317	1	0	0	0	0	1	0	0	0	14094	333	12	5	2802	5	SECISBP2L	15	49327631	Missense_Mutation	SNP	A	TCGA-CV-7427-01A-11D-2078-08	5436248	49327631	53203761	339	56672											
TMOD2	29767	broad.mit.edu	37	chr15	52069169	52069169	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctcaacaatccaaagttCgatgaagaaacagccaacaa	18	7	6	10	1	1	2	1	1	0	1	3	3	2	2	2	0	5	2	2	0	7	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:52069169C>T	ENST00000249700.4	+	5	668	c.447C>T	c.(445-447)ttC>ttT	p.F149F	TMOD2_ENST00000435126.2_Silent_p.F149F|TMOD2_ENST00000539962.2_Silent_p.F105F	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	149					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		ATCCAAAGTTCGATGAAGAAA	0.413													13	38					0	0	0	0	T	52069169	C	T	52069169	2	4	317	1	0	0	0	0	0	0	0	1	16328	883	31	1		1	TMOD2	15	52069169	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2741538	52069169	50462223	340	56673											
ZNF609	23060	broad.mit.edu	37	chr15	64791723	64791723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attggagtagggaatctcatCattgacctggacgccgatct	10	11	11	9	2	3	1	2	1	2	0	4	5	3	4	2	3	0	1	2	3	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:64791723C>T	ENST00000326648.3	+	1	233	c.105C>T	c.(103-105)atC>atT	p.I35I	ZNF609_ENST00000416172.1_Silent_p.I35I	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	35						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAATCTCATCATTGACCTGG	0.547													16	61					0	0	0	0	T	64791723	C	T	64791723	2	4	317	1	0	0	0	0	0	0	0	1	18130	816	29	2		2	ZNF609	15	64791723	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	12722554	64791723	37739669	341	56674											
CLPX	10845	broad.mit.edu	37	chr15	65458988	65458988	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttagggggaggtggtGgtttctgttggaatgccaat	6	14	15	6	0	2	0	0	0	2	0	2	2	2	2	2	6	1	2	2	6	3	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:65458988G>C	ENST00000300107.3	-	4	682	c.494C>G	c.(493-495)cCa>cGa	p.P165R		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	165					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GGGAGGTGGTGGTTTCTGTTG	0.378													52	137					0	0	0	0	C	65458988	G	C	65458988	3	2	317	1	0	0	0	0	1	0	0	0	3586	1348	47	4	1451	4	CLPX	15	65458988	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	667265	65458988	37072404	342	56675											
CILP	8483	broad.mit.edu	37	chr15	65499240	65499240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggccagtgctgcccgCaggtgtccagtcagtggtcc	5	8	13	15	1	1	0	1	0	0	0	3	0	3	0	5	3	2	2	5	3	0	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:65499240C>T	ENST00000261883.4	-	4	470	c.304G>A	c.(304-306)Gcg>Acg	p.A102T		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	102					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTGCTGCCCGCAGGTGTCCAG	0.627													6	24					0	0	0	0	T	65499240	C	T	65499240	3	4	317	1	0	0	0	0	1	0	0	0	3458	710	25	4	3274	4	CILP	15	65499240	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	40252	65499240	37032152	343	56676											
SMAD3	4088	broad.mit.edu	37	chr15	67482843	67482843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtcctcacccagatgggctCcccaagcatccgctgttcca	7	8	9	17	1	1	1	1	0	0	1	5	1	5	1	6	2	1	4	6	2	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:67482843C>T	ENST00000327367.4	+	9	1557	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	SMAD3_ENST00000540846.2_Missense_Mutation_p.S311F|SMAD3_ENST00000537194.2_Missense_Mutation_p.S221F|SMAD3_ENST00000439724.3_Missense_Mutation_p.S372F	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	416	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CAGATGGGCTCCCCAAGCATC	0.547													14	15					0	0	0	0	T	67482843	C	T	67482843	3	4	317	1	0	0	0	0	1	0	0	0	14847	855	30	2	1359	2	SMAD3	15	67482843	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1983603	67482843	35048549	344	56677											
HCN4	10021	broad.mit.edu	37	chr15	73615835	73615835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctcagtccagcgggggCagagaatccagccagctgtt	8	7	15	11	1	1	1	1	0	0	1	3	2	3	1	3	3	3	4	3	3	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:73615835C>A	ENST00000261917.3	-	8	3592	c.2599G>T	c.(2599-2601)Gcc>Tcc	p.A867S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	867					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCAGCGGGGGCAGAGAATCCA	0.692													8	38					0.000157383	0.000163043	1	0	A	73615835	C	A	73615835	3	1	317	1	0	0	0	0	1	0	0	0	7049	710	25	4	1016	4	HCN4	15	73615835	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	6132992	73615835	28915557	345	56678											
HCN4	10021	broad.mit.edu	37	chr15	73616079	73616079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacagaagtggtggcagcGgcagcctgcagtggtgcctg	7	6	17	11	1	0	1	0	0	0	1	0	1	0	1	3	4	4	3	3	4	1	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:73616079G>A	ENST00000261917.3	-	8	3348	c.2355C>T	c.(2353-2355)gcC>gcT	p.A785A		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	785					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGTGGCAGCGGCAGCCTGCA	0.701													8	26					0	0	0	0	A	73616079	G	A	73616079	2	1	317	1	0	0	0	0	0	0	0	1	7049	1103	39	1		1	HCN4	15	73616079	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	244	73616079	28915313	346	56679											
PML	5371	broad.mit.edu	37	chr15	74325651	74325651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcacctccaaggcagtctCaccaccccacctggatggac	10	5	8	18	0	1	0	1	0	1	0	3	2	2	2	6	3	1	2	6	3	1	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:74325651C>T	ENST00000565898.1	+	5	1493	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	PML_ENST00000435786.2_Missense_Mutation_p.S518L|PML_ENST00000569477.1_Missense_Mutation_p.S518L|PML_ENST00000569965.1_Missense_Mutation_p.S518L|PML_ENST00000564428.1_Missense_Mutation_p.S470L|PML_ENST00000395135.3_Missense_Mutation_p.S518L|PML_ENST00000563500.1_Missense_Mutation_p.S470L|PML_ENST00000567543.1_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.S470L|PML_ENST00000268058.3_Missense_Mutation_p.S518L|PML_ENST00000268059.6_Missense_Mutation_p.S518L|PML_ENST00000436891.3_Missense_Mutation_p.S518L			P29590	PML_HUMAN	promyelocytic leukemia	518					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AAGGCAGTCTCACCACCCCAC	0.657			T	"RARA, PAX5"	"APL, ALL"								9	28					0	0	0	0	T	74325651	C	T	74325651	3	4	317	1	0	0	0	0	1	0	0	0	12207	838	29	2	1575	2	PML	15	74325651	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	709572	74325651	28205741	347	56680											
GOLGA6A	342096	broad.mit.edu	37	chr15	74365132	74365132	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggtctctagctgttggttCtggtggctggcagcttctag	3	15	15	8	0	3	0	0	0	3	0	4	0	3	0	0	5	2	6	0	5	2	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:74365132C>G	ENST00000290438.3	-	13	1492	c.1452G>C	c.(1450-1452)caG>caC	p.Q484H		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	484										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GCTGTTGGTTCTGGTGGCTGG	0.622													5	85					0	0	0	0	G	74365132	C	G	74365132	3	3	317	1	0	0	0	0	1	0	0	0	6608	912	32	2	653	2	GOLGA6A	15	74365132	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	39481	74365132	28166260	348	56681											
CPEB1	64506	broad.mit.edu	37	chr15	83221346	83221346	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggacagacttctctagttCgaagaccagatacacatacc	13	9	7	12	2	1	3	0	0	1	3	4	5	1	4	2	1	2	1	2	1	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:83221346C>A	ENST00000563800.1	-	8	2890	c.1165G>T	c.(1165-1167)Gaa>Taa	p.E389*	RP11-152F13.10_ENST00000562833.1_Silent_p.S96S|CPEB1_ENST00000564522.1_Nonsense_Mutation_p.E287*|CPEB1_ENST00000568128.1_Nonsense_Mutation_p.E362*|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000398592.2_Nonsense_Mutation_p.E136*|CPEB1_ENST00000450751.2_Nonsense_Mutation_p.E287*|CPEB1_ENST00000562019.1_Nonsense_Mutation_p.E367*|CPEB1_ENST00000398591.2_Nonsense_Mutation_p.E292*|CPEB1_ENST00000423133.2_Nonsense_Mutation_p.E287*|CPEB1_ENST00000261723.6_Nonsense_Mutation_p.E365*|CPEB1_ENST00000568757.1_Nonsense_Mutation_p.E287*			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	367	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTCTCTAGTTCGAAGACCAGA	0.493													18	56					4.96729e-08	5.23556e-08	1	0	A	83221346	C	A	83221346	4	1	317	1	0	0	0	0	0	1	0	0	3830	893	31	3	621	3	CPEB1	15	83221346	Nonsense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	8856214	83221346	19310046	349	56682											
POLG	5428	broad.mit.edu	37	chr15	89862269	89862269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaagcttattgaacatttCtgactctgtgccccccttcc	7	14	5	15	0	3	2	1	2	2	0	4	2	4	2	4	0	3	1	4	0	3	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:89862269C>T	ENST00000268124.5	-	20	3499	c.3166G>A	c.(3166-3168)Gaa>Aaa	p.E1056K	POLG_ENST00000442287.2_Missense_Mutation_p.E1056K	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1056					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTGAACATTTCTGACTCTGTG	0.562								DNA polymerases (catalytic subunits)					6	93					0	0	0	0	T	89862269	C	T	89862269	3	4	317	1	0	0	0	0	1	0	0	0	12272	922	32	2	569	2	POLG	15	89862269	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	6640923	89862269	12669123	350	56683											
PRC1	9055	broad.mit.edu	37	chr15	91510405	91510405	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggattccagaagtagcatCagatttggaagcctttgaaa	14	10	11	6	0	1	3	1	1	0	2	2	6	2	5	2	2	2	2	2	2	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:91510405C>G	ENST00000361919.3	-	14	1856	c.1700G>C	c.(1699-1701)tGa>tCa	p.*567S	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Nonstop_Mutation_p.*526S|PRC1_ENST00000394249.3_Missense_Mutation_p.D607H|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000361188.5_Missense_Mutation_p.D593H	NM_199413.2	NP_955445.1	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	0	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GAAGTAGCATCAGATTTGGAA	0.448													22	55					0	0	0	0	G	91510405	C	G	91510405	4	3	317	1	0	0	0	0	0	0	0	0	12526	838	29	2	47	2	PRC1	15	91510405	Nonstop_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1648136	91510405	11020987	351	56684											
XYLT1	64131	broad.mit.edu	37	chr16	17235129	17235129	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaaccagtccgaaccgccatCcacggcaatgccctctggga	10	5	10	16	3	1	0	0	0	1	0	3	3	3	1	6	2	3	1	6	2	3	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:17235129C>G	ENST00000261381.6	-	7	1552	c.1468G>C	c.(1468-1470)Gat>Cat	p.D490H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	490					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAACCGCCATCCACGGCAATG	0.567													38	102					0	0	0	0	G	17235129	C	G	17235129	3	3	317	1	0	0	0	0	1	0	0	0	17559	855	30	2	1435	2	XYLT1	16	17235129	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08		17235129	73119624	352	56685											
CD2BP2	10421	broad.mit.edu	37	chr16	30365574	30365574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatcatcctcctcctcatCgctatccaaagagtgtttgc	9	13	5	14	1	3	1	3	0	0	1	8	1	7	1	4	0	1	2	4	0	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:30365574C>T	ENST00000305596.3	-	3	323	c.148G>A	c.(148-150)Gat>Aat	p.D50N	CD2BP2_ENST00000569466.1_Missense_Mutation_p.D50N	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	50					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TCCTCCTCATCGCTATCCAAA	0.527													61	189					0	0	0	0	T	30365574	C	T	30365574	3	4	317	1	0	0	0	0	1	0	0	0	3024	884	31	1	897	1	CD2BP2	16	30365574	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	13130445	30365574	59989179	353	56686											
SLC5A2	6524	broad.mit.edu	37	chr16	31499472	31499472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatggtcatgccaggcatGatcagccgcattctgtaccc	8	10	9	14	1	4	1	3	1	1	0	4	1	4	1	3	2	3	3	3	2	1	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:31499472G>C	ENST00000330498.3	+	8	1018	c.999G>C	c.(997-999)atG>atC	p.M333I	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	333					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TGCCAGGCATGATCAGCCGCA	0.627													24	90					0	0	0	0	C	31499472	G	C	31499472	3	2	317	1	0	0	0	0	1	0	0	0	14753	1290	45	2	1029	2	SLC5A2	16	31499472	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1133898	31499472	58855281	354	56687											
LONP2	83752	broad.mit.edu	37	chr16	48286135	48286135	+	Frame_Shift_Del	DEL	G	G	-																															acaggcctatgccgtttccaGattgtacaggtcttaaaaga																										TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:48286135delG	ENST00000285737.4	+	2	420	c.327delG	c.(325-327)cafs	p.Q109fs	LONP2_ENST00000535754.1_Frame_Shift_Del_p.Q109fs	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	109	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCCGTTTCCAGATTGTACAGG	0.507													14	30	---	---	---	---					-	48286135	G	-	48286135	7	5	317	1	0	1	0	1	0	0	0	0	8957	933	33	0	333	0	LONP2	16	48286135	Frame_Shift_Del	DEL	G	TCGA-CV-7427-01A-11D-2078-08	16786663	48286135	42068618	355	56688											
OGFOD1	55239	broad.mit.edu	37	chr16	56492471	56492471	+	Missense_Mutation	SNP	G	G	C																															atgatcaagtctgatgatttGaagaagagaagagagcctca																										TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:56492471G>C	ENST00000566157.1	+	3	435	c.312G>C	c.(310-312)ttG>ttC	p.L104F	OGFOD1_ENST00000568397.1_Missense_Mutation_p.L104F|OGFOD1_ENST00000565209.1_3'UTR	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	104							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CTGATGATTTGAAGAAGAGAA	0.378													7	31					0	0	0	0	C	56492471	G	C	56492471	3	2	317	1	0	0	0	0	1	0	0	0	10912	1281	45	2	322	2	OGFOD1	16	56492471	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	8206336	56492471	33862282	356	56689	458	2									
OGFOD1	55239	broad.mit.edu	37	chr16	56492479	56492479	+	Missense_Mutation	SNP	G	G	A																															gtctgatgatttgaagaagaGaagagagcctcacatctcca																										TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:56492479G>A	ENST00000566157.1	+	3	443	c.320G>A	c.(319-321)aGa>aAa	p.R107K	OGFOD1_ENST00000568397.1_Missense_Mutation_p.R107K|OGFOD1_ENST00000565209.1_3'UTR	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	107							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	TTGAAGAAGAGAAGAGAGCCT	0.368													7	31					0	0	0	0	A	56492479	G	A	56492479	3	1	317	1	0	0	0	0	1	0	0	0	10912	942	33	2	330	2	OGFOD1	16	56492479	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	8	56492479	33862274	357	56690	458	2									
BBS2	583	broad.mit.edu	37	chr16	56535295	56535295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaatgcgtaattctgtatGagcagtttgggtctcattcc	9	14	11	7	1	2	1	1	1	2	0	4	2	3	2	1	2	2	4	1	2	3	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:56535295G>C	ENST00000245157.5	-	10	1615	c.1195C>G	c.(1195-1197)Cat>Gat	p.H399D	BBS2_ENST00000568104.1_Missense_Mutation_p.H399D	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	399					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						AATTCTGTATGAGCAGTTTGG	0.478									Bardet-Biedl syndrome				36	127					0	0	0	0	C	56535295	G	C	56535295	3	2	317	1	0	0	0	0	1	0	0	0	1342	1290	45	2	1002	2	BBS2	16	56535295	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	42816	56535295	33819458	358	56691											
CETP	1071	broad.mit.edu	37	chr16	57016142	57016142	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtgggcatccctgaggtCatgtctcgtaagtgtgggct	5	12	15	9	1	2	1	1	1	1	0	4	1	3	1	1	3	0	4	1	3	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:57016142C>T	ENST00000200676.3	+	14	1444	c.1314C>T	c.(1312-1314)gtC>gtT	p.V438V	CETP_ENST00000379780.2_Silent_p.V378V|CETP_ENST00000566128.1_Silent_p.V373V	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	438					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TCCCTGAGGTCATGTCTCGTA	0.597													5	47					0	0	0	0	T	57016142	C	T	57016142	2	4	317	1	0	0	0	0	0	0	0	1	3306	813	29	2		2	CETP	16	57016142	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	480847	57016142	33338611	359	56692											
TEPP	374739	broad.mit.edu	37	chr16	58019836	58019836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cactttccgaagcttcggctCcagctacaggtaggggaacg	9	8	12	12	3	0	0	0	0	0	0	3	2	2	1	2	4	4	4	2	4	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:58019836C>G	ENST00000290871.5	+	7	894	c.857C>G	c.(856-858)tCc>tGc	p.S286C	TEPP_ENST00000569996.1_3'UTR|TEPP_ENST00000441824.2_Missense_Mutation_p.S259C	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	259						extracellular region		p.S286Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						AGCTTCGGCTCCAGCTACAGG	0.652													8	46					0	0	0	0	G	58019836	C	G	58019836	3	3	317	1	0	0	0	0	1	0	0	0	15854	855	30	2	883	2	TEPP	16	58019836	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1003694	58019836	32334917	360	56693											
CCDC113	29070	broad.mit.edu	37	chr16	58296295	58296295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctgagctgtagaaggaaGaggtgagtgaggcccttcac	10	10	14	7	0	2	5	1	3	1	2	2	6	2	6	1	3	1	2	1	3	3	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:58296295G>C	ENST00000219299.4	+	6	713	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	CCDC113_ENST00000443128.2_Missense_Mutation_p.E158Q	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	212						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GTAGAAGGAAGAGGTGAGTGA	0.418													29	94					0	0	0	0	C	58296295	G	C	58296295	3	2	317	1	0	0	0	0	1	0	0	0	2775	943	33	2	656	2	CCDC113	16	58296295	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	276459	58296295	32058458	361	56694											
GOT2	2806	broad.mit.edu	37	chr16	58757719	58757719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaccaactcccagattcatCtttttgctattggtgtccct	7	15	6	13	0	2	1	1	0	1	1	4	1	4	1	3	1	2	2	3	1	2	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:58757719C>G	ENST00000245206.5	-	2	305	c.177G>C	c.(175-177)aaG>aaC	p.K59N	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.K59N	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	59					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCAGATTCATCTTTTTGCTAT	0.493													41	137					0	0	0	0	G	58757719	C	G	58757719	3	3	317	1	0	0	0	0	1	0	0	0	6629	912	32	2	1151	2	GOT2	16	58757719	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	461424	58757719	31597034	362	56695											
LRRC36	55282	broad.mit.edu	37	chr16	67405069	67405069	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcactaagcccatcgaagaGaggattcaaatggaaggaca	16	6	11	8	1	2	1	2	0	0	1	3	6	2	4	1	3	1	0	1	3	4	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:67405069G>C	ENST00000329956.6	+	9	1437	c.1418G>C	c.(1417-1419)aGa>aCa	p.R473T	LRRC36_ENST00000563189.1_Missense_Mutation_p.R352T|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.R352T|LRRC36_ENST00000290940.7_Missense_Mutation_p.R205T	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	473										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CCATCGAAGAGAGGATTCAAA	0.468													23	90					0	0	0	0	C	67405069	G	C	67405069	3	2	317	1	0	0	0	0	1	0	0	0	9054	942	33	2	1480	2	LRRC36	16	67405069	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	8647350	67405069	22949684	363	56696											
FAM65A	79567	broad.mit.edu	37	chr16	67573997	67573997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tactgtgtccagcggcgtctCcgggatggtgcctacaacat	7	10	12	12	3	1	0	0	0	1	0	3	1	2	1	3	3	5	0	3	3	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:67573997C>T	ENST00000540839.3	+	8	736	c.516C>T	c.(514-516)ctC>ctT	p.L172L	FAM65A_ENST00000379312.3_Silent_p.L156L|FAM65A_ENST00000042381.4_Silent_p.L152L|FAM65A_ENST00000428437.2_Silent_p.L166L|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000422602.2_Silent_p.L172L|CTD-2012K14.2_ENST00000567122.1_RNA			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	156						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AGCGGCGTCTCCGGGATGGTG	0.637													30	72					0	0	0	0	T	67573997	C	T	67573997	2	4	317	1	0	0	0	0	0	0	0	1	5645	842	30	2		2	FAM65A	16	67573997	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	168928	67573997	22780756	364	56697											
HAS3	3038	broad.mit.edu	37	chr16	69148496	69148496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcctgagccttggctaccGaactaagtataccgcgcgct	9	9	10	13	4	0	1	0	1	0	0	1	2	1	1	4	1	4	3	4	1	5	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:69148496G>A	ENST00000306560.1	+	4	1145	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	HAS3_ENST00000569188.1_Missense_Mutation_p.R330Q|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	330					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	p.R330Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CTTGGCTACCGAACTAAGTAT	0.582													16	40					0	0	0	0	A	69148496	G	A	69148496	3	1	317	1	0	0	0	0	1	0	0	0	7013	1058	37	1	999	1	HAS3	16	69148496	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1574499	69148496	21206257	365	56698											
COG4	25839	broad.mit.edu	37	chr16	70553601	70553601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcaatggtgttttgctgttCcaaaagagcatccagctctc	9	14	8	10	0	2	1	1	0	1	1	5	1	4	1	2	1	3	5	2	1	3	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:70553601C>G	ENST00000323786.5	-	2	226	c.205G>C	c.(205-207)Gaa>Caa	p.E69Q	COG4_ENST00000393612.4_Missense_Mutation_p.E65Q|COG4_ENST00000564653.1_Missense_Mutation_p.E69Q	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	65	Interacts with SCFD1.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TTTTGCTGTTCCAAAAGAGCA	0.433													4	24					0	0	0	0	G	70553601	C	G	70553601	3	3	317	1	0	0	0	0	1	0	0	0	3690	864	30	2	2236	2	COG4	16	70553601	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1405105	70553601	19801152	366	56699											
ZCCHC14	23174	broad.mit.edu	37	chr16	87451158	87451158	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccattctgctcctgggtctGaggggtctgcagactggaag	6	10	14	11	0	3	2	0	1	3	1	4	3	4	3	2	4	2	2	2	4	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:87451158G>C	ENST00000268616.4	-	8	1097	c.880C>G	c.(880-882)Cag>Gag	p.Q294E		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	294					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TCCTGGGTCTGAGGGGTCTGC	0.572													46	132					0	0	0	0	C	87451158	G	C	87451158	3	2	317	1	0	0	0	0	1	0	0	0	17678	1299	45	2	1993	2	ZCCHC14	16	87451158	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	16897557	87451158	2903595	367	56700											
CPNE7	27132	broad.mit.edu	37	chr16	89655212	89655212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgagatctgccaggactatGacaggtgcgcccaccacctt	9	7	11	14	2	1	2	0	1	1	1	1	4	1	3	4	2	2	0	4	2	1	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:89655212G>A	ENST00000268720.5	+	12	1412	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	CPNE7_ENST00000319518.8_Missense_Mutation_p.D353N	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	428	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CCAGGACTATGACAGGTGCGC	0.642													13	26					0	0	0	0	A	89655212	G	A	89655212	3	1	317	1	0	0	0	0	1	0	0	0	3847	1290	45	2	1328	2	CPNE7	16	89655212	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2204054	89655212	699541	368	56701											
VPS53	55275	broad.mit.edu	37	chr17	455171	455171	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatcctgaaccagcagctGaatactgctggagatgacgc	12	7	11	11	1	0	5	0	3	0	2	1	6	1	5	2	1	5	3	2	1	3	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:455171G>A	ENST00000437048.2	-	17	1953	c.1807C>T	c.(1807-1809)Cag>Tag	p.Q603*	VPS53_ENST00000571805.1_Nonsense_Mutation_p.Q603*|VPS53_ENST00000446250.2_Nonsense_Mutation_p.Q405*|VPS53_ENST00000401468.3_Nonsense_Mutation_p.Q326*|VPS53_ENST00000291074.5_Nonsense_Mutation_p.Q574*|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000574029.1_Intron	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	603					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		ACCAGCAGCTGAATACTGCTG	0.502													5	9					0	0	0	0	A	455171	G	A	455171	4	1	317	1	0	0	0	0	0	1	0	0	17311	1299	45	2	730	2	VPS53	17	455171	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08		455171	80740039	369	56702											
GEMIN4	50628	broad.mit.edu	37	chr17	649539	649539	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagggcagggaaggcagtgaGaatctgggccaggaacttgt	12	6	17	6	0	1	1	0	1	1	1	1	4	1	3	1	5	1	2	1	5	4	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:649539G>C	ENST00000576778.1	-	1	3052	c.1711C>G	c.(1711-1713)Ctc>Gtc	p.L571V	GEMIN4_ENST00000319004.5_Missense_Mutation_p.L582V			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	582					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AAGGCAGTGAGAATCTGGGCC	0.547													16	41					0	0	0	0	C	649539	G	C	649539	3	2	317	1	0	0	0	0	1	0	0	0	6381	942	33	2	1436	2	GEMIN4	17	649539	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	194368	649539	80545671	370	56703											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2930332	2930332	+	Frame_Shift_Del	DEL	C	C	-																															ccccagcctgggggcagctgCcaccccgatcatcatgagcc																										TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:2930332delC	ENST00000254695.8	+	22	2165	c.2075delC	c.(2074-2076)gcfs	p.A692fs	RAP1GAP2_ENST00000542807.1_Frame_Shift_Del_p.A692fs|RAP1GAP2_ENST00000366401.4_Frame_Shift_Del_p.A677fs|RAP1GAP2_ENST00000540393.2_Frame_Shift_Del_p.A673fs	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	692	Ser-rich.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GGGGCAGCTGCCACCCCGATC	0.647													2	4	---	---	---	---					-	2930332	C	-	2930332	7	5	317	1	0	1	0	1	0	0	0	0	13120	739	26	0	2161	0	RAP1GAP2	17	2930332	Frame_Shift_Del	DEL	C	TCGA-CV-7427-01A-11D-2078-08	2280793	2930332	78264878	371	56704											
OR1A1	8383	broad.mit.edu	37	chr17	3119610	3119610	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttccttccaccaagggCgtgctcaaggccttctccac	7	9	9	16	1	2	0	1	0	1	0	5	0	4	0	5	3	1	2	5	3	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:3119610C>T	ENST00000304094.1	+	1	696	c.696C>T	c.(694-696)ggC>ggT	p.G232G		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CCACCAAGGGCGTGCTCAAGG	0.483													35	108					0	0	0	0	T	3119610	C	T	3119610	2	4	317	1	0	0	0	0	0	0	0	1	11020	755	27	1		1	OR1A1	17	3119610	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	189278	3119610	78075600	372	56705											
YBX2	51087	broad.mit.edu	37	chr17	7192869	7192869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggggctgcgggctgccGggggccaggggcctgctggg	2	5	22	12	2	1	0	1	0	0	0	1	0	1	0	3	8	3	3	3	8	0	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:7192869G>A	ENST00000007699.5	-	7	1087	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	342	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GCGGGCTGCCGGGGGCCAGGG	0.667													6	11					0	0	0	0	A	7192869	G	A	7192869	3	1	317	1	0	0	0	0	1	0	0	0	17566	1115	39	1	78	1	YBX2	17	7192869	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4073259	7192869	74002341	373	56706											
NEURL4	84461	broad.mit.edu	37	chr17	7228995	7228995	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatgaagaagtgtagggcaGagttggacttccttgtgagg	11	11	15	4	0	0	4	0	2	0	2	1	5	1	5	1	3	0	3	1	3	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:7228995G>C	ENST00000399464.2	-	7	1346	c.1331C>G	c.(1330-1332)tCt>tGt	p.S444C	NEURL4_ENST00000570460.1_Missense_Mutation_p.S422C|NEURL4_ENST00000315614.7_Missense_Mutation_p.S444C	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGTAGGGCAGAGTTGGACTT	0.567													25	86					0	0	0	0	C	7228995	G	C	7228995	3	2	317	1	0	0	0	0	1	0	0	0	10417	942	33	2	3449	2	NEURL4	17	7228995	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	36126	7228995	73966215	374	56707											
FXR2	9513	broad.mit.edu	37	chr17	7496331	7496331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagatgaagaattgtatctcGaagtgggccggggggcaggt	10	9	17	5	2	1	3	0	1	1	2	2	4	1	3	1	5	0	2	1	5	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:7496331G>A	ENST00000250113.7	-	13	1833	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	500						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ATTGTATCTCGAAGTGGGCCG	0.617													10	44					0	0	0	0	A	7496331	G	A	7496331	3	1	317	1	0	0	0	0	1	0	0	0	6164	1059	37	1	442	1	FXR2	17	7496331	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	267336	7496331	73698879	375	56708											
KDM6B	23135	broad.mit.edu	37	chr17	7752247	7752247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggcgggccctgggcccggGagcgcagggcgggcgaagag	6	1	22	12	5	0	1	0	0	0	1	0	3	0	2	2	6	1	1	2	6	1	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:7752247G>A	ENST00000254846.5	+	11	3030	c.2641G>A	c.(2641-2643)Gag>Aag	p.E881K	KDM6B_ENST00000448097.2_Missense_Mutation_p.E881K	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	881	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGGGCCCGGGAGCGCAGGGC	0.716													4	11					0	0	0	0	A	7752247	G	A	7752247	3	1	317	1	0	0	0	0	1	0	0	0	8190	1175	41	2	2671	2	KDM6B	17	7752247	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	255916	7752247	73442963	376	56709											
KDM6B	23135	broad.mit.edu	37	chr17	7753196	7753196	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcccctgcccagtctgtGaaaccgaagatcaacactga	11	9	7	14	1	2	3	1	2	1	1	3	4	3	3	4	0	3	0	4	0	3	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:7753196G>A	ENST00000254846.5	+	12	3887	c.3498G>A	c.(3496-3498)gtG>gtA	p.V1166V	KDM6B_ENST00000448097.2_Silent_p.V1166V	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1166					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.V1166V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCAGTCTGTGAAACCGAAGA	0.532													40	120					0	0	0	0	A	7753196	G	A	7753196	2	1	317	1	0	0	0	0	0	0	0	1	8190	1277	45	2		2	KDM6B	17	7753196	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	949	7753196	73442014	377	56710											
NCOR1	9611	broad.mit.edu	37	chr17	15942786	15942786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttcctctcttcgtgtctCaccactggtcacaactgagg	6	12	7	16	1	3	1	2	1	2	0	7	1	4	1	3	2	1	0	3	2	1	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:15942786C>T	ENST00000268712.3	-	44	7173	c.6916G>A	c.(6916-6918)Gag>Aag	p.E2306K	NCOR1_ENST00000395851.1_Missense_Mutation_p.E2203K|NCOR1_ENST00000395857.3_Missense_Mutation_p.E890K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2306	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTCGTGTCTCACCACTGGTC	0.483													7	36					0	0	0	0	T	15942786	C	T	15942786	3	4	317	1	0	0	0	0	1	0	0	0	10305	835	29	2	418	2	NCOR1	17	15942786	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	8189590	15942786	65252424	378	56711											
NCOR1	9611	broad.mit.edu	37	chr17	16029434	16029434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttttcctcttcatctttCttttcttcttcttttttttc	1	29	0	11	0	8	0	1	0	7	0	10	0	9	0	1	0	0	0	1	0	0	12			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:16029434C>G	ENST00000268712.3	-	15	1853	c.1596G>C	c.(1594-1596)aaG>aaC	p.K532N	NCOR1_ENST00000395848.1_Missense_Mutation_p.K423N|NCOR1_ENST00000395851.1_Missense_Mutation_p.K532N	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	532					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		cttcatctttcttttcttctt	0.264													3	7					0	0	0	0	G	16029434	C	G	16029434	3	3	317	1	0	0	0	0	1	0	0	0	10305	912	32	2	5854	2	NCOR1	17	16029434	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	86648	16029434	65165776	379	56712											
SREBF1	6720	broad.mit.edu	37	chr17	17719301	17719301	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggaggcactgagccactCtgtgccaggcaggcctggcg	7	5	16	13	1	1	1	0	1	1	0	1	2	1	2	3	5	2	3	3	5	0	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:17719301C>G	ENST00000355815.4	-	13	2515	c.2346G>C	c.(2344-2346)caG>caC	p.Q782H	SREBF1_ENST00000261646.5_Missense_Mutation_p.Q752H|SREBF1_ENST00000395757.1_Missense_Mutation_p.Q498H|SREBF1_ENST00000338854.5_Missense_Mutation_p.Q752H	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	752					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTGAGCCACTCTGTGCCAGGC	0.667													5	43					0	0	0	0	G	17719301	C	G	17719301	3	3	317	1	0	0	0	0	1	0	0	0	15231	912	32	2	1219	2	SREBF1	17	17719301	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1689867	17719301	63475909	380	56713											
SMCR8	140775	broad.mit.edu	37	chr17	18220060	18220060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgttttgacaagaagttGaagaccttggaggagctctg	12	11	13	5	0	1	4	0	2	1	2	1	6	1	6	1	2	1	3	1	2	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:18220060G>A	ENST00000406438.3	+	1	1437	c.957G>A	c.(955-957)ttG>ttA	p.L319L		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	319										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ACAAGAAGTTGAAGACCTTGG	0.493													18	55					0	0	0	0	A	18220060	G	A	18220060	2	1	317	1	0	0	0	0	0	0	0	1	14880	1281	45	2		2	SMCR8	17	18220060	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	500759	18220060	62975150	381	56714											
NOS2	4843	broad.mit.edu	37	chr17	26114730	26114730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggagccgtaatattggttGacaaattcgatagcttgagg	13	11	12	5	2	0	2	0	2	0	0	1	4	0	3	1	3	2	3	1	3	5	7			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:26114730G>A	ENST00000313735.6	-	5	674	c.441C>T	c.(439-441)gtC>gtT	p.V147V		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	147					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AATATTGGTTGACAAATTCGA	0.537													23	82					0	0	0	0	A	26114730	G	A	26114730	2	1	317	1	0	0	0	0	0	0	0	1	10613	1277	45	2		2	NOS2	17	26114730	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	7894670	26114730	55080480	382	56715											
GGNBP2	79893	broad.mit.edu	37	chr17	34937844	34937844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaattttcagaagaggaacGagtaagagaactcaagcaag	18	6	12	5	1	2	3	2	0	0	3	2	7	2	5	0	2	3	2	0	2	7	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:34937844G>A	ENST00000304718.4	+	9	1407	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	364					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.R364L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAAGAGGAACGAGTAAGAGAA	0.368													29	60					0	0	0	0	A	34937844	G	A	34937844	3	1	317	1	0	0	0	0	1	0	0	0	6410	1058	37	1	1121	1	GGNBP2	17	34937844	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	8823114	34937844	46257366	383	56716											
CDC6	990	broad.mit.edu	37	chr17	38450695	38450695	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgtaagccacagctgttGaacttcccaccttataccag	13	10	6	12	0	0	1	0	1	0	0	1	1	1	1	4	0	4	3	4	0	5	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:38450695G>C	ENST00000209728.4	+	7	1494	c.1023G>C	c.(1021-1023)ttG>ttC	p.L341F		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	341					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CACAGCTGTTGAACTTCCCAC	0.398													20	70					0	0	0	0	C	38450695	G	C	38450695	3	2	317	1	0	0	0	0	1	0	0	0	3112	1281	45	2	1045	2	CDC6	17	38450695	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	3512851	38450695	42744515	384	56717											
KRT10	3858	broad.mit.edu	37	chr17	38978336	38978336	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctcatagtttgattcttCcagagcccgaactttgtcca	9	13	7	12	1	2	2	1	1	1	1	4	3	4	2	3	0	3	2	3	0	2	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:38978336C>A	ENST00000269576.5	-	1	511	c.502G>T	c.(502-504)Gaa>Taa	p.E168*	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	168	Coil 1A.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TTTGATTCTTCCAGAGCCCGA	0.463													32	109					1.55811e-20	1.68935e-20	1	0	A	38978336	C	A	38978336	4	1	317	1	0	0	0	0	0	1	0	0	8500	864	30	2	1284	2	KRT10	17	38978336	Nonsense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	527641	38978336	42216874	385	56718											
FKBP10	60681	broad.mit.edu	37	chr17	39975508	39975508	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtctttcacgtcctcctGattgacgtgcacaacccgaa	8	11	8	14	3	2	2	1	2	1	0	4	3	4	2	3	1	2	1	3	1	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:39975508G>C	ENST00000321562.4	+	5	878	c.774G>C	c.(772-774)ctG>ctC	p.L258L		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	258	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ACGTCCTCCTGATTGACGTGC	0.632													27	73					0	0	0	0	C	39975508	G	C	39975508	2	2	317	1	0	0	0	0	0	0	0	1	5947	1277	45	2		2	FKBP10	17	39975508	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	997172	39975508	41219702	386	56719											
KCNH4	23415	broad.mit.edu	37	chr17	40318431	40318431	+	Missense_Mutation	SNP	G	G	A																															actcgcccggagcgcagaacGaggtcttgatgtgcagcgat																								rs140560707		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:40318431G>A	ENST00000264661.3	-	10	2056	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L	KCNH4_ENST00000607371.1_Missense_Mutation_p.S575L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	575					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGCGCAGAACGAGGTCTTGAT	0.622													4	24					0	0	0	0	A	40318431	G	A	40318431	3	1	317	1	0	0	0	0	1	0	0	0	8087	1059	37	1	1357	1	KCNH4	17	40318431	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	342923	40318431	40876779	387	56720	459	2									
KCNH4	23415	broad.mit.edu	37	chr17	40318439	40318439	+	Missense_Mutation	SNP	G	G	C																															ggagcgcagaacgaggtcttGatgtgcagcgatagggcccg																										TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:40318439G>C	ENST00000264661.3	-	10	2048	c.1716C>G	c.(1714-1716)atC>atG	p.I572M	KCNH4_ENST00000607371.1_Missense_Mutation_p.I572M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	572					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACGAGGTCTTGATGTGCAGCG	0.627													5	21					0	0	0	0	C	40318439	G	C	40318439	3	2	317	1	0	0	0	0	1	0	0	0	8087	1280	45	2	1365	2	KCNH4	17	40318439	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	8	40318439	40876771	388	56721	459	2									
STAT5B	6777	broad.mit.edu	37	chr17	40362425	40362425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaataatgattctcacccatCattccaatgaggcttgagat	14	12	6	9	0	2	3	2	3	1	1	4	4	3	3	2	1	0	1	2	1	3	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:40362425C>T	ENST00000293328.3	-	14	1939	c.1771G>A	c.(1771-1773)Gat>Aat	p.D591N		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	591	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TCTCACCCATCATTCCAATGA	0.448													19	87					0	0	0	0	T	40362425	C	T	40362425	3	4	317	1	0	0	0	0	1	0	0	0	15359	826	29	2	616	2	STAT5B	17	40362425	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	43986	40362425	40832785	389	56722											
CNTNAP1	8506	broad.mit.edu	37	chr17	40843231	40843231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggaggctcccagcctgggatCcagcgctgtgcctgtggtct	4	9	15	13	1	1	0	0	0	1	0	3	2	3	2	4	4	3	2	4	4	0	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:40843231C>G	ENST00000264638.4	+	14	2353	c.2136C>G	c.(2134-2136)atC>atG	p.I712M	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	712	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGCCTGGGATCCAGCGCTGTG	0.617													13	95					0	0	0	0	G	40843231	C	G	40843231	3	3	317	1	0	0	0	0	1	0	0	0	3676	845	30	2	2190	2	CNTNAP1	17	40843231	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	480806	40843231	40351979	390	56723											
ADAM11	4185	broad.mit.edu	37	chr17	42855094	42855094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagctggcggacggctctGacctgagctatgtggaggat	7	9	16	9	2	1	2	0	2	1	0	1	5	1	5	1	5	3	4	1	5	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:42855094G>A	ENST00000200557.6	+	23	2102	c.1933G>A	c.(1933-1935)Gac>Aac	p.D645N	ADAM11_ENST00000535346.1_Missense_Mutation_p.D445N	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	645	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGACGGCTCTGACCTGAGCTA	0.642													9	31					0	0	0	0	A	42855094	G	A	42855094	3	1	317	1	0	0	0	0	1	0	0	0	235	1290	45	2	2023	2	ADAM11	17	42855094	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2011863	42855094	38340116	391	56724											
NMT1	4836	broad.mit.edu	37	chr17	43159088	43159088	+	Missense_Mutation	SNP	G	G	A																															agaagaaagaaaaaggcagtGagacagattcagcccaggat																										TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:43159088G>A	ENST00000592782.1	+	3	339	c.208G>A	c.(208-210)Gag>Aag	p.E70K	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.E70K			P30419	NMT1_HUMAN	N-myristoyltransferase 1	70					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				aaaaGGCAGTGAGACAGATTC	0.383													7	8					0	0	0	0	A	43159088	G	A	43159088	3	1	317	1	0	0	0	0	1	0	0	0	10573	1291	45	2	214	2	NMT1	17	43159088	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	303994	43159088	38036122	392	56725	460	2									
NMT1	4836	broad.mit.edu	37	chr17	43159090	43159090	+	Silent	SNP	G	G	A																															aagaaagaaaaaggcagtgaGacagattcagcccaggatca																										TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:43159090G>A	ENST00000592782.1	+	3	341	c.210G>A	c.(208-210)gaG>gaA	p.E70E	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Silent_p.E70E			P30419	NMT1_HUMAN	N-myristoyltransferase 1	70					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				aaGGCAGTGAGACAGATTCAG	0.383													5	7					0	0	0	0	A	43159090	G	A	43159090	2	1	317	1	0	0	0	0	0	0	0	1	10573	933	33	2		2	NMT1	17	43159090	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2	43159090	38036120	393	56726	460	2									
MAP3K14	9020	broad.mit.edu	37	chr17	43364681	43364681	+	RNA	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgggccattttgccctCtgtagcatgggccacattgt	7	11	10	13	1	1	0	0	0	1	0	1	0	1	0	3	2	2	2	3	2	1	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:43364681C>A	ENST00000344686.2	-	0	484							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATTTTGCCCTCTGTAGCATGG	0.522													7	31					0.000157383	0.000163043	1	0	A	43364681	C	A	43364681	1	1	317	0	1	0	0	0	0	0	0	0	9317	922	32	2		2	MAP3K14	17	43364681	RNA	SNP	C	TCGA-CV-7427-01A-11D-2078-08	205591	43364681	37830529	394	56727											
CALCOCO2	10241	broad.mit.edu	37	chr17	46926688	46926688	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgaaggacagctgtatCagcctccagaagcagaactc	13	6	11	11	0	1	3	1	1	0	2	3	5	2	4	2	1	5	4	2	1	4	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:46926688C>A	ENST00000258947.3	+	5	593	c.492C>A	c.(490-492)atC>atA	p.I164I	CALCOCO2_ENST00000508679.1_Silent_p.I92I|CALCOCO2_ENST00000509507.1_Silent_p.I185I|CALCOCO2_ENST00000448105.2_Silent_p.I188I|CALCOCO2_ENST00000416445.2_Intron	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	164					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACAGCTGTATCAGCCTCCAGA	0.473													32	72					2.68265e-12	2.8675e-12	1	0	A	46926688	C	A	46926688	2	1	317	1	0	0	0	0	0	0	0	1	2603	816	29	2		2	CALCOCO2	17	46926688	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	3562007	46926688	34268522	395	56728											
ZNF652	22834	broad.mit.edu	37	chr17	47388699	47388699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgttttcatgtgttcgtcGaagtactgcttcatgttgaa	7	18	10	6	2	2	1	2	1	0	0	4	2	2	1	0	0	2	5	0	0	3	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:47388699G>A	ENST00000362063.2	-	5	1602	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	ZNF652_ENST00000430262.2_Silent_p.F428F	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TGTGTTCGTCGAAGTACTGCT	0.423													24	79					0	0	0	0	A	47388699	G	A	47388699	2	1	317	1	0	0	0	0	0	0	0	1	18160	1049	37	1		1	ZNF652	17	47388699	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	462011	47388699	33806511	396	56729											
CACNA1G	8913	broad.mit.edu	37	chr17	48646576	48646576	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgtggagatggtggtgaaGatggtggccttgggcatctt	6	11	18	6	1	1	3	0	1	1	2	1	4	1	3	2	6	0	1	2	6	1	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:48646576G>C	ENST00000352832.5	+	3	777	c.405G>C	c.(403-405)aaG>aaC	p.K135N	CACNA1G_ENST00000515765.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K135N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K135N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K135N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.K135N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K135N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	135					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGTGGTGAAGATGGTGGCCT	0.527													9	32					0	0	0	0	C	48646576	G	C	48646576	3	2	317	1	0	0	0	0	1	0	0	0	2569	933	33	2	415	2	CACNA1G	17	48646576	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1257877	48646576	32548634	397	56730											
TUBD1	51174	broad.mit.edu	37	chr17	57963531	57963531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccagactgggcagcctttGacagcatttgattgataact	10	11	11	9	0	0	4	0	3	0	1	0	4	0	4	2	2	3	2	2	2	1	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:57963531G>A	ENST00000325752.3	-	3	510	c.233C>T	c.(232-234)tCa>tTa	p.S78L	TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.S78L|TUBD1_ENST00000376094.4_Missense_Mutation_p.S78L|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.S78L|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000592426.1_Missense_Mutation_p.S78L	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	78					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GGCAGCCTTTGACAGCATTTG	0.413													6	75					0	0	0	0	A	57963531	G	A	57963531	3	1	317	1	0	0	0	0	1	0	0	0	16858	1294	45	2	1156	2	TUBD1	17	57963531	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	9316955	57963531	23231679	398	56731											
USP32	84669	broad.mit.edu	37	chr17	58288742	58288742	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccagaaagattacctgttGagttcataaagatgtctccc	12	12	7	10	0	2	4	1	1	1	3	4	4	3	4	3	0	1	2	3	0	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:58288742G>C	ENST00000300896.4	-	20	2507	c.2313C>G	c.(2311-2313)ctC>ctG	p.L771L	USP32_ENST00000592339.1_Silent_p.L441L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	771					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATTACCTGTTGAGTTCATAAA	0.408													8	120					0	0	0	0	C	58288742	G	C	58288742	2	2	317	1	0	0	0	0	0	0	0	1	17159	1277	45	2		2	USP32	17	58288742	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	325211	58288742	22906468	399	56732											
CYB561	1534	broad.mit.edu	37	chr17	61512584	61512584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagctccggggaacaggaaGaagctgaagcccaccagcca	14	2	13	12	1	0	2	0	1	0	1	1	5	1	4	4	3	5	2	4	3	5	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:61512584G>A	ENST00000584031.1	-	5	772	c.473C>T	c.(472-474)tCt>tTt	p.S158F	CYB561_ENST00000392976.1_Silent_p.F142F|CYB561_ENST00000360793.3_Silent_p.F142F|CYB561_ENST00000582034.1_Silent_p.F113F|CYB561_ENST00000582297.1_Silent_p.F142F|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000581573.1_Silent_p.F142F|CYB561_ENST00000448884.2_Intron|CYB561_ENST00000542042.1_Silent_p.F209F|CYB561_ENST00000392975.2_Silent_p.F142F|CYB561_ENST00000582997.1_Silent_p.F149F			P49447	CY561_HUMAN	cytochrome b561	0	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GGAACAGGAAGAAGCTGAAGC	0.642													11	43					0	0	0	0	A	61512584	G	A	61512584	3	1	317	1	0	0	0	0	1	0	0	0	4151	933	33	2	337	2	CYB561	17	61512584	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	3223842	61512584	19682626	400	56733											
KCNH6	81033	broad.mit.edu	37	chr17	61611639	61611639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggtggccgccatccctttCgacctcctgatcttccgcac	5	11	8	17	3	1	1	0	1	1	0	5	2	4	1	6	2	0	1	6	2	0	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:61611639C>T	ENST00000583023.1	+	5	1079	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	KCNH6_ENST00000581784.1_Silent_p.F356F|KCNH6_ENST00000456941.2_Silent_p.F356F|KCNH6_ENST00000580652.1_Silent_p.F356F|KCNH6_ENST00000314672.5_Silent_p.F356F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	356					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCATCCCTTTCGACCTCCTGA	0.622													15	36					0	0	0	0	T	61611639	C	T	61611639	2	4	317	1	0	0	0	0	0	0	0	1	8089	883	31	1		1	KCNH6	17	61611639	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	99055	61611639	19583571	401	56734											
ABCA9	10350	broad.mit.edu	37	chr17	66972084	66972084	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcaggaggagtttcCacttcaccgagggatcaaag	10	9	11	11	1	2	0	2	0	0	0	4	4	4	3	3	3	1	2	3	3	1	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:66972084C>T	ENST00000340001.4	-	39	5058	c.4847G>A	c.(4846-4848)tGg>tAg	p.W1616*	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.W1578*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1616					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GAGGAGTTTCCACTTCACCGA	0.408													3	12					0	0	0	0	T	66972084	C	T	66972084	4	4	317	1	0	0	0	0	0	1	0	0	39	595	21	4	31	4	ABCA9	17	66972084	Nonsense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	5360445	66972084	14223126	402	56735											
CCDC40	55036	broad.mit.edu	37	chr17	78063659	78063659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagacggagatccgggccatGaagggcgagatccacaggat	12	4	15	10	3	0	4	0	1	0	3	2	7	2	5	3	4	0	0	3	4	1	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:78063659G>A	ENST00000397545.4	+	17	2835	c.2808G>A	c.(2806-2808)atG>atA	p.M936I	CCDC40_ENST00000374877.3_Missense_Mutation_p.M936I|CCDC40_ENST00000573903.1_3'UTR	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	936					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		p.M936N(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCGGGCCATGAAGGGCGAGA	0.582													6	29					0	0	0	0	A	78063659	G	A	78063659	3	1	317	1	0	0	0	0	1	0	0	0	2838	1290	45	2	2874	2	CCDC40	17	78063659	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	11091575	78063659	3131551	403	56736											
RNF213	57674	broad.mit.edu	37	chr17	78317686	78317686	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaatttgggtgtttcttttCaagctcctcattttacaata	9	18	7	7	0	3	0	2	0	1	0	4	1	4	1	1	2	2	2	1	2	5	7			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:78317686C>G	ENST00000582970.1	+	28	6356	c.6213C>G	c.(6211-6213)ttC>ttG	p.F2071L	RNF213_ENST00000508628.2_Missense_Mutation_p.F2120L|RNF213_ENST00000336301.6_Missense_Mutation_p.F144L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.F144L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGTTTCTTTTCAAGCTCCTCA	0.438													18	89					0	0	0	0	G	78317686	C	G	78317686	3	3	317	1	0	0	0	0	1	0	0	0	13562	825	29	2	6638	2	RNF213	17	78317686	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	254027	78317686	2877524	404	56737											
EMILIN2	84034	broad.mit.edu	37	chr18	2913162	2913162	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgctgtcggtctccaaCgccagcgtggcccagctgca	6	7	13	15	3	1	0	0	0	1	0	3	0	1	0	3	2	5	4	3	2	1	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:2913162C>T	ENST00000254528.3	+	8	3081	c.2922C>T	c.(2920-2922)aaC>aaT	p.N974N	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	974	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CGGTCTCCAACGCCAGCGTGG	0.642													8	42					0	0	0	0	T	2913162	C	T	2913162	2	4	317	1	0	0	0	0	0	0	0	1	5132	535	19	1		1	EMILIN2	18	2913162	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08		2913162	75164086	405	56738											
PTPRM	5797	broad.mit.edu	37	chr18	8370921	8370921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatactggccagatgacacaGagatatataaagacattaaa	20	8	7	6	0	0	4	0	1	0	3	0	5	0	4	1	1	1	0	1	1	8	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:8370921G>C	ENST00000332175.8	+	22	4086	c.3049G>C	c.(3049-3051)Gag>Cag	p.E1017Q	PTPRM_ENST00000444013.1_Missense_Mutation_p.E804Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1030Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.E955Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1031Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1017	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGATGACACAGAGATATATAA	0.348													9	74					0	0	0	0	C	8370921	G	C	8370921	3	2	317	1	0	0	0	0	1	0	0	0	12888	943	33	2	3182	2	PTPRM	18	8370921	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	5457759	8370921	69706327	406	56739											
ANKRD12	23253	broad.mit.edu	37	chr18	9256444	9256444	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctaagtcatcaccagcatCaaaagatacccgacctaaag	17	6	5	13	1	3	1	3	0	0	1	3	2	3	1	4	0	2	1	4	0	6	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:9256444C>G	ENST00000383440.2	+	8	3367	c.3110C>G	c.(3109-3111)tCa>tGa	p.S1037*	ANKRD12_ENST00000262126.3_Nonsense_Mutation_p.S1060*|ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.S1037*	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1060						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TCACCAGCATCAAAAGATACC	0.333													24	106					0	0	0	0	G	9256444	C	G	9256444	4	3	317	1	0	0	0	0	0	1	0	0	640	838	29	2	3209	2	ANKRD12	18	9256444	Nonsense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	885523	9256444	68820804	407	56740											
TXNDC2	84203	broad.mit.edu	37	chr18	9887362	9887362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagaagccatccagcccaagGagggtgacctccccaagtcc	12	4	10	15	0	0	2	0	1	0	1	3	3	3	3	7	2	2	0	7	2	4	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:9887362G>A	ENST00000306084.6	+	2	1085	c.886G>A	c.(886-888)Gag>Aag	p.E296K	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E229K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	296	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCAGCCCAAGGAGGGTGACCT	0.602													32	73					0	0	0	0	A	9887362	G	A	9887362	3	1	317	1	0	0	0	0	1	0	0	0	16893	1175	41	2	892	2	TXNDC2	18	9887362	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	630918	9887362	68189886	408	56741											
TUBB6	84617	broad.mit.edu	37	chr18	12324975	12324975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggctaacagcacatcatgGaatcacttcacaccctcctt	11	11	5	14	0	3	0	3	0	0	0	4	1	4	1	2	2	2	2	2	2	2	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:12324975G>A	ENST00000592683.1	+	4	333	c.287G>A	c.(286-288)gGa>gAa	p.G96E	TUBB6_ENST00000591208.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000317702.5_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	96					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GCACATCATGGAATCACTTCA	0.557													8	20					0	0	0	0	A	12324975	G	A	12324975	3	1	317	1	0	0	0	0	1	0	0	0	16856	1189	41	2		2	TUBB6	18	12324975	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2437613	12324975	65752273	409	56742											
LAMA3	3909	broad.mit.edu	37	chr18	21478998	21478998	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgcaaaagaactggatgtGaagattaaaaatgtcatccg	17	8	10	6	2	1	3	1	1	0	2	2	4	2	4	1	1	2	1	1	1	7	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:21478998G>A	ENST00000313654.9	+	46	6046	c.5805G>A	c.(5803-5805)gtG>gtA	p.V1935V	LAMA3_ENST00000399516.3_Silent_p.V1935V|LAMA3_ENST00000587184.1_Silent_p.V326V|LAMA3_ENST00000269217.6_Silent_p.V326V|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1935	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACTGGATGTGAAGATTAAAA	0.318													17	34					0	0	0	0	A	21478998	G	A	21478998	2	1	317	1	0	0	0	0	0	0	0	1	8660	1277	45	2		2	LAMA3	18	21478998	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	9154023	21478998	56598250	410	56743											
KIAA1328	57536	broad.mit.edu	37	chr18	34802101	34802101	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtactttccgactcagtcctCtaaaatcaacccggaagaag	13	9	7	12	2	3	1	2	0	1	1	5	3	5	2	3	1	2	1	3	1	6	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:34802101C>G	ENST00000591619.1	+	10	2419	c.1633C>G	c.(1633-1635)Cta>Gta	p.L545V	KIAA1328_ENST00000280020.5_Missense_Mutation_p.L549V|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000543923.1_Intron			Q86T90	K1328_HUMAN	KIAA1328	549										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		ACTCAGTCCTCTAAAATCAAC	0.473													5	5					0	0	0	0	G	34802101	C	G	34802101	3	3	317	1	0	0	0	0	1	0	0	0	8276	912	32	2	1683	2	KIAA1328	18	34802101	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	13323103	34802101	43275147	411	56744											
TCEB3C	162699	broad.mit.edu	37	chr18	44555035	44555035	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcctggaggcaatgaatcctCcataattcatctgtctctcg	9	13	7	12	1	3	1	1	1	2	0	8	2	6	2	3	2	0	1	3	2	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:44555035C>G	ENST00000330682.2	-	1	1414	c.1179G>C	c.(1177-1179)tgG>tgC	p.W393C	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	393	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AATGAATCCTCCATAATTCAT	0.577													7	221					0	0	0	0	G	44555035	C	G	44555035	3	3	317	1	0	0	0	0	1	0	0	0	15777	856	30	2	2108	2	TCEB3C	18	44555035	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	9752934	44555035	33522213	412	56745											
TCEB3B	51224	broad.mit.edu	37	chr18	44560858	44560858	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcatccttggggtttcctCtcttaagcaggccccgcatg	5	11	12	13	1	1	0	0	0	1	0	4	0	3	0	4	4	1	4	4	4	1	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:44560858C>G	ENST00000332567.4	-	1	1130	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	260					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGGTTTCCTCTCTTAAGCAG	0.597													13	57					0	0	0	0	G	44560858	C	G	44560858	3	3	317	1	0	0	0	0	1	0	0	0	15776	922	32	2	1487	2	TCEB3B	18	44560858	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	5823	44560858	33516390	413	56746											
ATP8B1	5205	broad.mit.edu	37	chr18	55359051	55359051	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccttacctgacatagagaGagatgggtaccatggtgttg	11	10	13	7	0	0	3	0	1	0	2	0	5	0	3	3	2	3	2	3	2	3	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:55359051G>C	ENST00000536015.1	-	12	1327	c.1208C>G	c.(1207-1209)tCt>tGt	p.S403C	ATP8B1_ENST00000283684.4_Missense_Mutation_p.S403C|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	403			S -> Y (in PFIC1).		ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GACATAGAGAGAGATGGGTAC	0.443													8	37					0	0	0	0	C	55359051	G	C	55359051	3	2	317	1	0	0	0	0	1	0	0	0	1198	942	33	2	2615	2	ATP8B1	18	55359051	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	10798193	55359051	22718197	414	56747											
PHLPP1	23239	broad.mit.edu	37	chr18	60642651	60642651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacttggaactgctgggcaGaagcttggtggtgccgctgt	8	10	15	8	1	0	1	0	0	0	1	0	2	0	2	1	4	5	4	1	4	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:60642651G>A	ENST00000400316.4	+	16	4022	c.2241G>A	c.(2239-2241)caG>caA	p.Q747Q	PHLPP1_ENST00000262719.5_Silent_p.Q1259Q	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1259					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CTGCTGGGCAGAAGCTTGGTG	0.527													7	84					0	0	0	0	A	60642651	G	A	60642651	2	1	317	1	0	0	0	0	0	0	0	1	11926	933	33	2		2	PHLPP1	18	60642651	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	5283600	60642651	17434597	415	56748											
DOK6	220164	broad.mit.edu	37	chr18	67365819	67365819	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcaacgtggttcacgtttGagtcaggaaggtaagatcta	12	11	11	7	2	4	2	3	1	1	1	4	3	4	3	0	3	1	3	0	3	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:67365819G>C	ENST00000382713.5	+	5	779	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	197	IRS-type PTB.						insulin receptor binding	p.E197K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GTTCACGTTTGAGTCAGGAAG	0.478													3	17					0	0	0	0	C	67365819	G	C	67365819	3	2	317	1	0	0	0	0	1	0	0	0	4737	1291	45	2	607	2	DOK6	18	67365819	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	6723168	67365819	10711429	416	56749											
DOK6	220164	broad.mit.edu	37	chr18	67406304	67406304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggccatagctgagcaacatGaaagattaatgctagaaatg	16	9	10	6	0	0	4	0	2	0	2	0	4	0	4	1	1	4	3	1	1	6	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:67406304G>A	ENST00000382713.5	+	6	893	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	235	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TGAGCAACATGAAAGATTAAT	0.448													10	106					0	0	0	0	A	67406304	G	A	67406304	3	1	317	1	0	0	0	0	1	0	0	0	4737	1291	45	2	725	2	DOK6	18	67406304	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	40485	67406304	10670944	417	56750											
CNDP2	55748	broad.mit.edu	37	chr18	72183552	72183552	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtctggggccaagaccgtGattcccaggaaggtggttgg	7	8	18	8	1	1	2	0	1	1	1	2	3	2	3	3	7	0	1	3	7	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:72183552G>A	ENST00000324262.4	+	9	1309	c.993G>A	c.(991-993)gtG>gtA	p.V331V	CNDP2_ENST00000324301.8_Silent_p.V247V|CNDP2_ENST00000579847.1_Silent_p.V331V	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	331						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CCAAGACCGTGATTCCCAGGA	0.597													14	48					0	0	0	0	A	72183552	G	A	72183552	2	1	317	1	0	0	0	0	0	0	0	1	3624	1277	45	2		2	CNDP2	18	72183552	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4777248	72183552	5893696	418	56751											
SBNO2	22904	broad.mit.edu	37	chr19	1109708	1109708	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccacctgcccgtcctGcgggtgcccgggagccagga	7	4	15	15	3	0	1	0	0	0	1	1	4	1	3	6	3	4	0	6	3	1	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:1109708G>A	ENST00000361757.3	-	27	3334	c.3097C>T	c.(3097-3099)Cag>Tag	p.Q1033*	SBNO2_ENST00000587024.1_Nonsense_Mutation_p.Q1023*|SBNO2_ENST00000438103.2_Nonsense_Mutation_p.Q976*	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1033					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TGCCCGTCCTGCGGGTGCCCG	0.672													10	34					0	0	0	0	A	1109708	G	A	1109708	4	1	317	1	0	0	0	0	0	1	0	0	13949	1328	46	4	1027	4	SBNO2	19	1109708	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08		1109708	58019275	419	56752											
AP3D1	8943	broad.mit.edu	37	chr19	2110821	2110821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatgcccttgaggatgctGctgctcctgttctccagcac	5	12	9	15	0	1	1	0	1	1	0	4	2	3	2	4	1	5	5	4	1	0	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:2110821G>A	ENST00000355272.6	-	27	3266	c.3060C>T	c.(3058-3060)agC>agT	p.S1020S	AP3D1_ENST00000345016.5_Silent_p.S958S|AP3D1_ENST00000356926.4_Silent_p.S917S|AP3D1_ENST00000350812.6_Silent_p.S789S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	958					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TGAGGATGCTGCTGCTCCTGT	0.642													8	36					0	0	0	0	A	2110821	G	A	2110821	2	1	317	1	0	0	0	0	0	0	0	1	747	1310	46	4		4	AP3D1	19	2110821	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1001113	2110821	57018162	420	56753											
TLE2	7089	broad.mit.edu	37	chr19	3028341	3028341	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acataatgtcgctgcatttcCgtcttctcgctggccagctt	6	14	8	13	3	2	0	0	0	2	0	5	0	3	0	2	1	2	4	2	1	1	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:3028341C>A	ENST00000262953.6	-	3	424	c.162G>T	c.(160-162)acG>acT	p.T54T	TLE2_ENST00000443826.3_5'UTR|TLE2_ENST00000426948.2_Silent_p.T67T|TLE2_ENST00000586422.1_5'UTR|TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000591529.1_Silent_p.T67T|TLE2_ENST00000590536.1_Silent_p.T54T	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	54	Gln-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GCTGCATTTCCGTCTTCTCGC	0.592													4	10					0.000602214	0.000618573	1	0	A	3028341	C	A	3028341	2	1	317	1	0	0	0	0	0	0	0	1	16033	639	23	3		3	TLE2	19	3028341	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	917520	3028341	56100642	421	56754											
DOHH	83475	broad.mit.edu	37	chr19	3494056	3494056	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtccgaggaatactgcttCaggatctccagaacttccgg	9	9	12	11	2	2	1	1	0	1	1	5	4	4	3	3	4	3	1	3	4	3	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:3494056C>T	ENST00000427575.1	-	3	772	c.321G>A	c.(319-321)ctG>ctA	p.L107L	DOHH_ENST00000250937.3_Silent_p.L107L	NM_001145165.1	NP_001138637.1	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	107					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AATACTGCTTCAGGATCTCCA	0.642													4	15					0	0	0	0	T	3494056	C	T	3494056	2	4	317	1	0	0	0	0	0	0	0	1	4731	813	29	2		2	DOHH	19	3494056	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	465715	3494056	55634927	422	56755											
DOHH	83475	broad.mit.edu	37	chr19	3494073	3494073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcaggatctccagaacttCcgggtccccgatggccccca	7	8	9	17	2	2	1	1	0	1	1	5	3	4	2	6	3	1	0	6	3	1	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:3494073C>T	ENST00000427575.1	-	3	755	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	DOHH_ENST00000250937.3_Missense_Mutation_p.E102K	NM_001145165.1	NP_001138637.1	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	102					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGAACTTCCGGGTCCCCG	0.632													5	14					0	0	0	0	T	3494073	C	T	3494073	3	4	317	1	0	0	0	0	1	0	0	0	4731	864	30	2	616	2	DOHH	19	3494073	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	17	3494073	55634910	423	56756											
SAFB2	9667	broad.mit.edu	37	chr19	5622555	5622555	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctcaccttcttgagccgctCcatcaggacgctcttgttgc	5	12	8	16	2	4	1	2	1	2	0	5	2	5	2	4	1	2	3	4	1	0	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:5622555C>G	ENST00000252542.4	-	1	436	c.172G>C	c.(172-174)Gag>Cag	p.E58Q		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	58	SAP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TTGAGCCGCTCCATCAGGACG	0.731													8	12					0	0	0	0	G	5622555	C	G	5622555	3	3	317	1	0	0	0	0	1	0	0	0	13892	864	30	2	2773	2	SAFB2	19	5622555	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	2128482	5622555	53506428	424	56757											
RFX2	5990	broad.mit.edu	37	chr19	6007164	6007164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgggcaggacggcgccctCggggtcttcgtcactgtgga	4	9	16	12	4	2	0	1	0	1	0	4	2	2	2	1	6	0	1	1	6	0	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:6007164C>T	ENST00000303657.5	-	12	1410	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.E396K|RFX2_ENST00000359161.3_Missense_Mutation_p.E421K	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACGGCGCCCTCGGGGTCTTCG	0.667													7	27					0	0	0	0	T	6007164	C	T	6007164	3	4	317	1	0	0	0	0	1	0	0	0	13345	893	31	1	938	1	RFX2	19	6007164	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	384609	6007164	53121819	425	56758											
TNFSF14	8740	broad.mit.edu	37	chr19	6665352	6665352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccccgctgccggtcaagctgGagttggcccctgttgggaag	5	8	15	13	2	1	0	1	0	0	0	1	2	1	2	5	4	2	4	5	4	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:6665352G>C	ENST00000326176.9	-	5	581	c.200C>G	c.(199-201)tCc>tGc	p.S67C	TNFSF14_ENST00000599359.1_Missense_Mutation_p.S103C|TNFSF14_ENST00000245912.3_Missense_Mutation_p.S67C	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	103					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GGTCAAGCTGGAGTTGGCCCC	0.602													3	3					0	0	0	0	C	6665352	G	C	6665352	3	2	317	1	0	0	0	0	1	0	0	0	16401	1174	41	2	418	2	TNFSF14	19	6665352	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	658188	6665352	52463631	426	56759											
VAV1	7409	broad.mit.edu	37	chr19	6833552	6833552	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctcagaggtaccttctatCagggctaccgctgccatcgg	8	10	10	13	2	3	1	2	0	2	1	5	1	3	1	3	3	3	3	3	3	3	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:6833552C>G	ENST00000304076.2	+	17	1718	c.1624C>G	c.(1624-1626)Cag>Gag	p.Q542E	VAV1_ENST00000539284.1_Missense_Mutation_p.Q445E|VAV1_ENST00000602142.1_Missense_Mutation_p.Q542E|VAV1_ENST00000596764.1_Missense_Mutation_p.Q510E|VAV1_ENST00000599806.1_Missense_Mutation_p.Q487E	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	542					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q542E(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TACCTTCTATCAGGGCTACCG	0.547													20	95					0	0	0	0	G	6833552	C	G	6833552	3	3	317	1	0	0	0	0	1	0	0	0	17227	827	29	2	1690	2	VAV1	19	6833552	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	168200	6833552	52295431	427	56760											
MYO1F	4542	broad.mit.edu	37	chr19	8587564	8587564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggaattctgtgttgtgctCtgagggcggacgtgcccggg	5	10	18	8	3	2	1	0	1	2	0	2	4	2	3	1	4	2	2	1	4	1	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:8587564C>T	ENST00000338257.8	-	26	3271	c.3004G>A	c.(3004-3006)Gag>Aag	p.E1002K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1002						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTGTTGTGCTCTGAGGGCGGA	0.687													7	24					0	0	0	0	T	8587564	C	T	8587564	3	4	317	1	0	0	0	0	1	0	0	0	10143	922	32	2	304	2	MYO1F	19	8587564	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1754012	8587564	50541419	428	56761											
ADAMTS10	81794	broad.mit.edu	37	chr19	8650504	8650504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggctgcgcacgcctgcatCgcagctgcggctgcagagcg	5	5	16	15	6	0	1	0	0	0	1	1	1	0	1	1	2	6	7	1	2	0	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:8650504C>T	ENST00000270328.4	-	22	2967	c.2701G>A	c.(2701-2703)Gat>Aat	p.D901N	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.D901N|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.D388N			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	901	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACGCCTGCATCGCAGCTGCGG	0.672													7	13					0	0	0	0	T	8650504	C	T	8650504	3	4	317	1	0	0	0	0	1	0	0	0	256	884	31	1	626	1	ADAMTS10	19	8650504	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	62940	8650504	50478479	429	56762											
ZNF177	7730	broad.mit.edu	37	chr19	9492159	9492159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgatcagtcatcccttaaGaaacacacacgctctcacac	14	8	4	15	2	3	1	3	0	1	1	6	2	4	1	1	0	1	1	1	0	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:9492159G>C	ENST00000541595.2	+	12	1301	c.672G>C	c.(670-672)aaG>aaC	p.K224N	ZNF177_ENST00000434737.2_Missense_Mutation_p.K384N|ZNF177_ENST00000343499.4_Missense_Mutation_p.K224N|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000589262.1_Missense_Mutation_p.K384N|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.K224N|ZNF177_ENST00000446085.4_3'UTR	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	224					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CATCCCTTAAGAAACACACAC	0.463													16	131					0	0	0	0	C	9492159	G	C	9492159	3	2	317	1	0	0	0	0	1	0	0	0	17841	933	33	2	1170	2	ZNF177	19	9492159	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	841655	9492159	49636824	430	56763											
EIF3G	8666	broad.mit.edu	37	chr19	10226442	10226442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagagctcctgcaggtcgGtctcacgcgtgtcctctgac	6	9	13	13	3	2	2	1	1	2	1	6	3	4	3	2	3	2	2	2	3	1	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:10226442G>T	ENST00000253108.4	-	9	800	c.758C>A	c.(757-759)aCc>aAc	p.T253N		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	253	RRM.					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CTGCAGGTCGGTCTCACGCGT	0.632													17	57					2.94398e-08	3.11928e-08	1	0	T	10226442	G	T	10226442	3	4	317	1	0	0	0	0	1	0	0	0	5055	1261	44	4	216	4	EIF3G	19	10226442	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	734283	10226442	48902541	431	56764											
DNM2	1785	broad.mit.edu	37	chr19	10870479	10870479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattctgcagctcatcttctCaaaaacaggtaaaatggggc	13	10	8	10	0	4	0	2	0	3	0	5	0	4	0	0	3	3	3	0	3	4	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:10870479C>T	ENST00000314646.5	+	2	391	c.227C>T	c.(226-228)tCa>tTa	p.S76L	DNM2_ENST00000585892.1_Missense_Mutation_p.S76L|DNM2_ENST00000408974.4_Missense_Mutation_p.S76L|DNM2_ENST00000359692.6_Missense_Mutation_p.S76L|DNM2_ENST00000355667.6_Missense_Mutation_p.S76L|DNM2_ENST00000389253.4_Missense_Mutation_p.S76L			P50570	DYN2_HUMAN	dynamin 2	76					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTCATCTTCTCAAAAACAGGT	0.577			"F, N, Splice, Mis, O"		ETP ALL								33	97					0	0	0	0	T	10870479	C	T	10870479	3	4	317	1	0	0	0	0	1	0	0	0	4708	838	29	2	233	2	DNM2	19	10870479	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	644037	10870479	48258504	432	56765											
YIPF2	78992	broad.mit.edu	37	chr19	11036435	11036435	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggggcagcagtgagcctttGatccggtccaggacctgggg	6	7	17	11	2	0	2	0	2	0	0	2	3	2	3	4	6	2	2	4	6	0	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:11036435G>A	ENST00000586748.1	-	5	466	c.294C>T	c.(292-294)atC>atT	p.I98I	YIPF2_ENST00000590329.1_Silent_p.I98I|YIPF2_ENST00000253031.2_Silent_p.I98I			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	98						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GTGAGCCTTTGATCCGGTCCA	0.602													8	18					0	0	0	0	A	11036435	G	A	11036435	2	1	317	1	0	0	0	0	0	0	0	1	17574	1280	45	2		2	YIPF2	19	11036435	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	165956	11036435	48092548	433	56766											
ZNF136	7695	broad.mit.edu	37	chr19	12297854	12297854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaaagaagtcacactggaGagaaaccctatgaatgtcag	17	7	10	7	0	2	4	2	2	0	2	2	6	2	5	1	1	1	0	1	1	5	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:12297854G>C	ENST00000343979.4	+	4	801	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	ZNF136_ENST00000398616.2_Missense_Mutation_p.E155Q	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	221					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TCACACTGGAGAGAAACCCTA	0.398													17	33					0	0	0	0	C	12297854	G	C	12297854	3	2	317	1	0	0	0	0	1	0	0	0	17821	943	33	2	675	2	ZNF136	19	12297854	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1261419	12297854	46831129	434	56767											
ZNF44	51710	broad.mit.edu	37	chr19	12383859	12383859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctttgaaatacactaggaGaatcaaaggctttcccacat	14	11	7	9	0	2	2	1	1	1	1	3	3	3	2	1	2	1	1	1	2	5	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:12383859G>A	ENST00000356109.5	-	5	1473	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	ZNF44_ENST00000355684.5_Missense_Mutation_p.S404F	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TACACTAGGAGAATCAAAGGC	0.453													10	42					0	0	0	0	A	12383859	G	A	12383859	3	1	317	1	0	0	0	0	1	0	0	0	18007	942	33	2	640	2	ZNF44	19	12383859	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	86005	12383859	46745124	435	56768											
HOOK2	29911	broad.mit.edu	37	chr19	12883482	12883482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcttccagcgtcatgattCtctggatgtggtctggggat	6	15	12	8	1	4	1	1	1	3	0	6	3	5	3	1	4	1	0	1	4	0	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:12883482C>G	ENST00000264827.5	-	6	571	c.401G>C	c.(400-402)aGa>aCa	p.R134T	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.R134T	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	134	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	p.R134I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CGTCATGATTCTCTGGATGTG	0.582													13	125					0	0	0	0	G	12883482	C	G	12883482	3	3	317	1	0	0	0	0	1	0	0	0	7333	913	32	2	1830	2	HOOK2	19	12883482	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	499623	12883482	46245501	436	56769											
CACNA1A	773	broad.mit.edu	37	chr19	13356019	13356019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaactcagtcacgaggatatCggtgatgctgcccagaacag	13	7	11	10	2	2	2	2	1	0	1	3	4	2	3	1	2	4	1	1	2	3	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:13356019C>T	ENST00000360228.5	-	31	4926	c.4927G>A	c.(4927-4929)Gat>Aat	p.D1643N	CACNA1A_ENST00000573710.2_Missense_Mutation_p.D1644N|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1644					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACGAGGATATCGGTGATGCTG	0.582													18	38					0	0	0	0	T	13356019	C	T	13356019	3	4	317	1	0	0	0	0	1	0	0	0	2563	884	31	1	2763	1	CACNA1A	19	13356019	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	472537	13356019	45772964	437	56770											
MYO9B	4650	broad.mit.edu	37	chr19	17311114	17311114	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgcagatccacgtttaaGaggctttttctgcataaaac	11	13	7	10	1	1	2	0	0	1	2	3	2	3	2	2	1	3	4	2	1	3	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:17311114G>C	ENST00000595618.1	+	25	4403	c.4251G>C	c.(4249-4251)aaG>aaC	p.K1417N	MYO9B_ENST00000397274.2_Missense_Mutation_p.K1417N|MYO9B_ENST00000594824.1_Missense_Mutation_p.K1417N	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1417	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCACGTTTAAGAGGCTTTTTC	0.502													4	22					0	0	0	0	C	17311114	G	C	17311114	3	2	317	1	0	0	0	0	1	0	0	0	10155	933	33	2	4345	2	MYO9B	19	17311114	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	3955095	17311114	41817869	438	56771											
MAP1S	55201	broad.mit.edu	37	chr19	17835961	17835961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctacagacagggggcttctCgcctcaccacttcctccagg	7	8	10	16	1	2	1	1	0	1	1	5	1	4	1	4	3	1	2	4	3	1	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:17835961C>T	ENST00000324096.4	+	4	558	c.407C>T	c.(406-408)tCg>tTg	p.S136L	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.S110L	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	136	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGGGGCTTCTCGCCTCACCAC	0.612													21	63					0	0	0	0	T	17835961	C	T	17835961	3	4	317	1	0	0	0	0	1	0	0	0	9303	893	31	1	421	1	MAP1S	19	17835961	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	524847	17835961	41293022	439	56772											
ZNF43	7594	broad.mit.edu	37	chr19	21992317	21992317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccacattctttgcatttGaaaagttttttttcagtatg	9	20	6	6	0	2	1	1	1	1	0	2	1	2	1	1	0	2	3	1	0	3	9			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:21992317G>A	ENST00000594012.1	-	7	1018	c.504C>T	c.(502-504)ttC>ttT	p.F168F	ZNF43_ENST00000595461.1_Silent_p.F168F|ZNF43_ENST00000598381.1_Silent_p.F168F|ZNF43_ENST00000354959.4_Silent_p.F174F	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTTTGCATTTGAAAAGTTTTT	0.303													11	13					0	0	0	0	A	21992317	G	A	21992317	2	1	317	1	0	0	0	0	0	0	0	1	17998	1281	45	2		2	ZNF43	19	21992317	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4156356	21992317	37136666	440	56773											
ZNF208	7757	broad.mit.edu	37	chr19	22155770	22155770	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacatttgtagggtttctctCcagtatgaattaccttatgt	9	17	7	8	0	1	1	0	1	1	0	3	1	2	1	2	1	1	3	2	1	5	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:22155770C>G	ENST00000397126.4	-	4	2214	c.2066G>C	c.(2065-2067)gGa>gCa	p.G689A	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTTCTCTCCAGTATGAAT	0.383													12	43					0	0	0	0	G	22155770	C	G	22155770	3	3	317	1	0	0	0	0	1	0	0	0	17861	855	30	2	1780	2	ZNF208	19	22155770	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	163453	22155770	36973213	441	56774											
ZNF345	25850	broad.mit.edu	37	chr19	37368436	37368436	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttatgaatgcaaagcatGtggaatggcctttagcagtg	12	11	11	7	0	0	1	0	1	0	0	0	2	0	2	2	2	3	3	2	2	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:37368436G>C	ENST00000529555.1	+	2	1492	c.704G>C	c.(703-705)tGt>tCt	p.C235S	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.C235S|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.C235S			Q14585	ZN345_HUMAN	zinc finger protein 345	235					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCAAAGCATGTGGAATGGCC	0.418													19	57					0	0	0	0	C	37368436	G	C	37368436	3	2	317	1	0	0	0	0	1	0	0	0	17954	1377	48	4	706	4	ZNF345	19	37368436	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	15212666	37368436	21760547	442	56775											
DLL3	10683	broad.mit.edu	37	chr19	39989650	39989650	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtccgggctcctctcccaGactgtgatcctagcgctcat	6	11	9	15	2	2	2	1	1	1	1	6	2	5	2	4	1	1	2	4	1	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:39989650G>A	ENST00000205143.4	+	1	43	c.36G>A	c.(34-36)caG>caA	p.Q12Q	DLL3_ENST00000356433.5_Silent_p.Q12Q|DLL3_ENST00000600579.1_3'UTR	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	12					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCTCTCCCAGACTGTGATCC	0.617													22	79					0	0	0	0	A	39989650	G	A	39989650	2	1	317	1	0	0	0	0	0	0	0	1	4604	933	33	2		2	DLL3	19	39989650	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2621214	39989650	19139333	443	56776											
ERF	2077	broad.mit.edu	37	chr19	42753748	42753748	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggccaccacagccgagaaGagggaagatgaagatgaaga	16	2	15	8	2	0	7	0	2	0	5	0	9	0	8	3	2	1	0	3	2	4	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:42753748G>A	ENST00000222329.4	-	4	673	c.516C>T	c.(514-516)ctC>ctT	p.L172L	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Silent_p.L97L	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	172					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CAGCCGAGAAGAGGGAAGATG	0.657													13	58					0	0	0	0	A	42753748	G	A	42753748	2	1	317	1	0	0	0	0	0	0	0	1	5259	929	33	2		2	ERF	19	42753748	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2764098	42753748	16375235	444	56777											
MEGF8	1954	broad.mit.edu	37	chr19	42875617	42875617	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcccccagtgaccgtcgaGactgctacaagtaccaggtg	9	7	11	14	2	0	2	0	1	0	1	2	3	1	2	4	1	3	3	4	1	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:42875617G>C	ENST00000334370.4	+	40	7686	c.7051G>C	c.(7051-7053)Gac>Cac	p.D2351H	MEGF8_ENST00000251268.6_Missense_Mutation_p.D2418H|MEGF8_ENST00000378073.4_Intron	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2418						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGACCGTCGAGACTGCTACAA	0.627													9	44					0	0	0	0	C	42875617	G	C	42875617	3	2	317	1	0	0	0	0	1	0	0	0	9532	942	33	2	7209	2	MEGF8	19	42875617	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	121869	42875617	16253366	445	56778											
GYS1	2997	broad.mit.edu	37	chr19	49477904	49477904	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcggcactgctattgaaGaggccgattcggcggatggt	7	10	15	9	4	0	2	0	1	0	1	2	4	0	3	1	5	1	2	1	5	2	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:49477904G>A	ENST00000323798.3	-	11	1591	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L	GYS1_ENST00000544287.1_Silent_p.L98L|GYS1_ENST00000263276.6_Silent_p.L401L|GYS1_ENST00000541188.1_Silent_p.L385L	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	465					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGCTATTGAAGAGGCCGATTC	0.617													8	32					0	0	0	0	A	49477904	G	A	49477904	2	1	317	1	0	0	0	0	0	0	0	1	6962	929	33	2		2	GYS1	19	49477904	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	6602287	49477904	9651079	446	56779											
ZNF175	7728	broad.mit.edu	37	chr19	52091027	52091027	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatcagtgccacaactgtggGaaatccttcatttccaagtc	11	12	7	11	0	2	0	2	0	0	0	5	1	4	1	3	1	2	0	3	1	4	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:52091027G>A	ENST00000262259.2	+	5	1801	c.1443G>A	c.(1441-1443)ggG>ggA	p.G481G	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	481					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		ACAACTGTGGGAAATCCTTCA	0.448													11	19					0	0	0	0	A	52091027	G	A	52091027	2	1	317	1	0	0	0	0	0	0	0	1	17840	1161	41	2		2	ZNF175	19	52091027	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2613123	52091027	7037956	447	56780											
LILRB4	11006	broad.mit.edu	37	chr19	55179456	55179456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcccagtgtctatgccactCtggccatccactaatccagg	9	9	8	15	0	2	0	0	0	2	0	4	0	4	0	5	2	2	0	5	2	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:55179456C>G	ENST00000391736.1	+	14	1648	c.1333C>G	c.(1333-1335)Ctg>Gtg	p.L445V	LILRB4_ENST00000391733.3_Missense_Mutation_p.L446V|LILRB4_ENST00000270452.2_Missense_Mutation_p.L445V|LILRB4_ENST00000391734.3_Missense_Mutation_p.L392V|LILRB4_ENST00000430952.2_Missense_Mutation_p.L444V	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	445						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CTATGCCACTCTGGCCATCCA	0.597													15	59					0	0	0	0	G	55179456	C	G	55179456	3	3	317	1	0	0	0	0	1	0	0	0	8847	912	32	2	1379	2	LILRB4	19	55179456	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	3088429	55179456	3949527	448	56781											
EPS8L1	54869	broad.mit.edu	37	chr19	55591869	55591869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgggatgaggacatgaacaGaacatggccaagaaggatct	15	6	14	6	0	1	4	0	2	1	2	1	7	1	7	1	4	2	0	1	4	4	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:55591869G>C	ENST00000245618.5	+	1	110	c.8G>C	c.(7-9)aGa>aCa	p.R3T	EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000592824.1_Intron|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R3T|EPS8L1_ENST00000201647.6_Intron	NM_017729.3	NP_060199.3	Q8TE68	ES8L1_HUMAN	EPS8-like 1	0						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GACATGAACAGAACATGGCCA	0.602													4	18					0	0	0	0	C	55591869	G	C	55591869	3	2	317	1	0	0	0	0	1	0	0	0	5233	942	33	2	459	2	EPS8L1	19	55591869	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	412413	55591869	3537114	449	56782											
ZNF444	55311	broad.mit.edu	37	chr19	56658417	56658417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctccgcgccctgtgccGggactggctgcggcccgagg	2	6	17	16	5	0	0	0	0	0	0	1	2	1	1	4	4	3	3	4	4	0	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:56658417G>T	ENST00000337080.3	+	3	504	c.137G>T	c.(136-138)cGg>cTg	p.R46L	ZNF444_ENST00000592949.1_Missense_Mutation_p.R46L	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	46	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GCCCTGTGCCGGGACTGGCTG	0.746													4	5					0.00024832	0.00025681	1	0	T	56658417	G	T	56658417	3	4	317	1	0	0	0	0	1	0	0	0	18012	1116	39	3	139	3	ZNF444	19	56658417	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1066548	56658417	2470566	450	56783											
ZNF418	147686	broad.mit.edu	37	chr19	58439254	58439254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatgtgtcccctgatgatCtgccaagtgcaaaatgtctc	9	12	10	10	0	2	3	0	3	2	0	4	3	3	3	3	0	2	1	3	0	3	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:58439254C>T	ENST00000396147.1	-	4	586	c.295G>A	c.(295-297)Gat>Aat	p.D99N	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.D120N|ZNF418_ENST00000599852.1_Missense_Mutation_p.D14N|ZNF418_ENST00000595830.1_Missense_Mutation_p.D99N	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CCCTGATGATCTGCCAAGTGC	0.512													21	92					0	0	0	0	T	58439254	C	T	58439254	3	4	317	1	0	0	0	0	1	0	0	0	17990	913	32	2	1739	2	ZNF418	19	58439254	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1780837	58439254	689729	451	56784											
SIRPB1	10326	broad.mit.edu	37	chr20	1559329	1559329	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcacctgtagctcgtcctCacctgccactcctggaaagg	9	9	8	15	1	2	0	2	0	0	0	5	1	4	1	5	2	2	2	5	2	3	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:1559329C>G	ENST00000381605.4	-	2	152	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	SIRPB1_ENST00000381603.3_Missense_Mutation_p.E30Q|SIRPB1_ENST00000262929.5_Missense_Mutation_p.E29Q|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.E30Q	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	30	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGCTCGTCCTCACCTGCCACT	0.507													7	93					0	0	0	0	G	1559329	C	G	1559329	3	3	317	1	0	0	0	0	1	0	0	0	14421	835	29	2	1124	2	SIRPB1	20	1559329	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08		1559329	61466191	452	56785											
XKR7	343702	broad.mit.edu	37	chr20	30584822	30584822	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatattcttcatgtgtgtCtactactgtctcctgcaccc	6	15	7	13	0	4	0	1	0	3	0	5	0	4	0	2	1	3	2	2	1	3	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:30584822C>G	ENST00000217299.3	+	3	1476	c.1302C>G	c.(1300-1302)gtC>gtG	p.V434V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	434						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCATGTGTGTCTACTACTGTC	0.587													15	46					0	0	0	0	G	30584822	C	G	30584822	2	3	317	1	0	0	0	0	0	0	0	1	17532	900	32	2		2	XKR7	20	30584822	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	29025493	30584822	32440698	453	56786											
ASXL1	171023	broad.mit.edu	37	chr20	31022345	31022345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccggggttggactggCgccaggaccctcgcagacat	6	7	14	14	3	0	1	0	0	0	1	2	3	1	3	4	5	1	2	4	5	0	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:31022345C>T	ENST00000375687.4	+	13	2254	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_ENST00000306058.5_Silent_p.G605G	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	610					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.Q592fs*5(1)|p.G610G(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"F, N, Mis"		"MDS, CMML"								8	31					0	0	0	0	T	31022345	C	T	31022345	2	4	317	1	0	0	0	0	0	0	0	1	1070	755	27	1		1	ASXL1	20	31022345	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	437523	31022345	32003175	454	56787											
RPN2	6185	broad.mit.edu	37	chr20	35827507	35827507	+	Missense_Mutation	SNP	T	T	A																															tggcagctgtcagtgaggacTcatctgttacccagatctac																										TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:35827507T>A	ENST00000237530.6	+	4	669	c.358T>A	c.(358-360)Tca>Aca	p.S120T	RPN2_ENST00000373622.5_Missense_Mutation_p.S88T	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	120					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CAGTGAGGACTCATCTGTTAC	0.478													22	69					0	0	0	0	A	35827507	T	A	35827507	3	1	317	1	0	0	0	0	1	0	0	0	13693	1551	54	5	372	5	RPN2	20	35827507	Missense_Mutation	SNP	T	TCGA-CV-7427-01A-11D-2078-08	4805162	35827507	27198013	455	56788	461	2									
RPN2	6185	broad.mit.edu	37	chr20	35827508	35827508	+	Nonsense_Mutation	SNP	C	C	A																															ggcagctgtcagtgaggactCatctgttacccagatctacc																										TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:35827508C>A	ENST00000237530.6	+	4	670	c.359C>A	c.(358-360)tCa>tAa	p.S120*	RPN2_ENST00000373622.5_Nonsense_Mutation_p.S88*	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	120					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AGTGAGGACTCATCTGTTACC	0.483													22	69					2.37509e-13	2.54324e-13	1	0	A	35827508	C	A	35827508	4	1	317	1	0	0	0	0	0	1	0	0	13693	838	29	2	373	2	RPN2	20	35827508	Nonsense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1	35827508	27198012	456	56789	461	2									
HNF4A	3172	broad.mit.edu	37	chr20	43047076	43047076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctttcaggtggccctgctCagagcccatgctggcgagca	6	9	12	14	1	3	1	2	0	1	1	3	2	3	1	2	3	4	3	2	3	0	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:43047076C>T	ENST00000316099.3	+	6	749	c.660C>T	c.(658-660)ctC>ctT	p.L220L	HNF4A_ENST00000457232.1_Silent_p.L198L|HNF4A_ENST00000415691.1_Silent_p.L220L|HNF4A_ENST00000443598.2_Silent_p.L220L	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	220					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGGCCCTGCTCAGAGCCCATG	0.602													25	84					0	0	0	0	T	43047076	C	T	43047076	2	4	317	1	0	0	0	0	0	0	0	1	7303	813	29	2		2	HNF4A	20	43047076	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	7219568	43047076	19978444	457	56790											
KCNK15	60598	broad.mit.edu	37	chr20	43379022	43379022	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cctcggggccgtcgccttctCgcacttcgagggctggacct	3	9	13	16	5	1	0	0	0	1	0	5	2	1	1	4	4	0	2	4	4	0	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:43379022C>G	ENST00000372861.3	+	2	667	c.536C>G	c.(535-537)tCg>tGg	p.S179W		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	179						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GTCGCCTTCTCGCACTTCGAG	0.677													4	19					0	0	0	0	G	43379022	C	G	43379022	3	3	317	1	0	0	0	0	1	0	0	0	8115	893	31	3	542	3	KCNK15	20	43379022	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	331946	43379022	19646498	458	56791											
ARFGEF2	10564	broad.mit.edu	37	chr20	47582443	47582443	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggtctgacagaacctgaGagagttctaggtgaactgga	12	9	13	7	0	2	5	0	3	2	2	2	7	2	6	1	3	2	1	1	3	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:47582443G>C	ENST00000371917.4	+	8	942	c.942G>C	c.(940-942)gaG>gaC	p.E314D		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	314					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGAACCTGAGAGAGTTCTAG	0.473													14	67					0	0	0	0	C	47582443	G	C	47582443	3	2	317	1	0	0	0	0	1	0	0	0	855	933	33	2	972	2	ARFGEF2	20	47582443	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4203421	47582443	15443077	459	56792											
ADNP	23394	broad.mit.edu	37	chr20	49510683	49510683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaggtgctgccacatgctGaaaatgttccctgtaaatgt	11	12	10	8	0	0	1	0	1	0	0	1	1	1	1	2	1	3	5	2	1	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:49510683G>C	ENST00000396029.3	-	5	1135	c.568C>G	c.(568-570)Cag>Gag	p.Q190E	ADNP_ENST00000396032.3_Missense_Mutation_p.Q190E|ADNP_ENST00000371602.4_Missense_Mutation_p.Q190E|ADNP_ENST00000349014.3_Missense_Mutation_p.Q190E	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	190						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GCCACATGCTGAAAATGTTCC	0.448													24	82					0	0	0	0	C	49510683	G	C	49510683	3	2	317	1	0	0	0	0	1	0	0	0	323	1299	45	2	2744	2	ADNP	20	49510683	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1928240	49510683	13514837	460	56793											
NFATC2	4773	broad.mit.edu	37	chr20	50049030	50049030	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccatgagggccggctgctGatagcccagcaggctggggc	6	5	18	12	1	0	2	0	2	0	0	0	2	0	2	3	6	3	4	3	6	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:50049030G>A	ENST00000371564.3	-	9	2515	c.2296C>T	c.(2296-2298)Cag>Tag	p.Q766*	NFATC2_ENST00000396009.3_Nonsense_Mutation_p.Q766*|NFATC2_ENST00000414705.1_Nonsense_Mutation_p.Q746*	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	766					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCCGGCTGCTGATAGCCCAGC	0.697													5	18					0	0	0	0	A	50049030	G	A	50049030	4	1	317	1	0	0	0	0	0	1	0	0	10432	1299	45	2	537	2	NFATC2	20	50049030	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	538347	50049030	12976490	461	56794											
LIPI	149998	broad.mit.edu	37	chr21	15561416	15561416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctggtgtttttaactgctCtattataaataaaagttgta	12	19	6	4	0	2	0	0	0	2	0	2	0	2	0	0	1	2	4	0	1	8	10			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr21:15561416C>G	ENST00000344577.2	-	2	459	c.434G>C	c.(433-435)aGa>aCa	p.R145T	LIPI_ENST00000536861.1_Missense_Mutation_p.R124T	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	124					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTTAACTGCTCTATTATAAAT	0.338													5	43					0	0	0	0	G	15561416	C	G	15561416	3	3	317	1	0	0	0	0	1	0	0	0	8880	913	32	2	1047	2	LIPI	21	15561416	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08		15561416	32568479	462	56795											
TMPRSS15	5651	broad.mit.edu	37	chr21	19725330	19725331	+	Frame_Shift_Ins	INS	-	-	A																															tagatcctggacccagaaacINSaaaagccatcctcaaagtta																										TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr21:19725330_19725331insA	ENST00000284885.3	-	10	1093_1094	c.1060_1061insT	c.(1060-1062)tttfs	p.F354fs		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	354	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.C354F(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GACCCAGAAACAAAAGCCATCC	0.332													27	93	---	---	---	---					A	19725331	-	A	19725330	7	5	317	1	0	1	1	0	0	0	0	0	16340	478	17	0	2062	0	TMPRSS15	21	19725330	Frame_Shift_Ins	INS	-	TCGA-CV-7427-01A-11D-2078-08	4163914	19725330	28404565	463	56796											
SUMO3	6612	broad.mit.edu	37	chr21	46226908	46226908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctccggcacacctccCgtctgctgctggaacacgtc	5	9	9	18	3	2	0	0	0	2	0	5	1	3	1	3	2	4	4	3	2	1	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr21:46226908C>T	ENST00000397898.3	-	4	402	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	SUMO3_ENST00000411651.2_Silent_p.T128T|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000332859.6_Silent_p.T90T			P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	0					protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		GCACACCTCCCGTCTGCTGCT	0.612													10	35					0	0	0	0	T	46226908	C	T	46226908	3	4	317	1	0	0	0	0	1	0	0	0	15479	639	23	1	45	1	SUMO3	21	46226908	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	26501578	46226908	1902987	464	56797											
COL6A2	1292	broad.mit.edu	37	chr21	47546045	47546045	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcacgagagtgaaaacctCtactccatcgcctgcgacaa	14	6	8	13	3	1	2	0	1	1	1	3	4	2	2	3	0	4	1	3	0	5	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr21:47546045C>G	ENST00000300527.4	+	26	2420	c.2316C>G	c.(2314-2316)ctC>ctG	p.L772L	COL6A2_ENST00000409416.1_Silent_p.L772L|COL6A2_ENST00000357838.4_Silent_p.L772L|COL6A2_ENST00000397763.1_Silent_p.L772L|COL6A2_ENST00000310645.5_Silent_p.L772L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	772	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GTGAAAACCTCTACTCCATCG	0.587													48	143					0	0	0	0	G	47546045	C	G	47546045	2	3	317	1	0	0	0	0	0	0	0	1	3730	900	32	2		2	COL6A2	21	47546045	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1319137	47546045	583850	465	56798											
PI4KA	5297	broad.mit.edu	37	chr22	21104247	21104247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatggcctcctggaggatCatcccacagcgtgcagcgaa	9	8	11	13	2	2	0	2	0	0	0	4	3	4	2	3	3	3	1	3	3	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:21104247C>T	ENST00000255882.6	-	28	3275	c.3189G>A	c.(3187-3189)atG>atA	p.M1063I	PI4KA_ENST00000572273.1_Missense_Mutation_p.M1005I	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1005					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)			CCTGGAGGATCATCCCACAGC	0.527													8	30					0	0	0	0	T	21104247	C	T	21104247	3	4	317	1	0	0	0	0	1	0	0	0	11945	826	29	2	3231	2	PI4KA	22	21104247	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08		21104247	30200319	466	56799											
RAB36	9609	broad.mit.edu	37	chr22	23495243	23495243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcaagaatgtttttgatcGagactacaaggccaccattg	12	12	9	8	1	0	3	0	1	0	2	1	4	0	3	2	1	2	2	2	1	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:23495243G>A	ENST00000263116.2	+	5	489	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	RAB36_ENST00000341989.4_Missense_Mutation_p.R128Q	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	150					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GTTTTTGATCGAGACTACAAG	0.493													23	97					0	0	0	0	A	23495243	G	A	23495243	3	1	317	1	0	0	0	0	1	0	0	0	13008	1058	37	1	467	1	RAB36	22	23495243	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	2390996	23495243	27809323	467	56800											
OSM	5008	broad.mit.edu	37	chr22	30660370	30660370	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccgcctgcccagccccctCagggtctcctcactggggaa	5	6	10	20	1	3	0	2	0	1	0	4	1	3	1	7	3	2	0	7	3	1	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:30660370C>T	ENST00000215781.2	-	3	301	c.261G>A	c.(259-261)ctG>ctA	p.L87L	OSM_ENST00000403463.1_3'UTR|OSM_ENST00000403389.1_Silent_p.L66L	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	87					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			CCAGCCCCCTCAGGGTCTCCT	0.657													8	18					0	0	0	0	T	30660370	C	T	30660370	2	4	317	1	0	0	0	0	0	0	0	1	11362	813	29	2		2	OSM	22	30660370	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	7165127	30660370	20644196	468	56801											
APOL1	8542	broad.mit.edu	37	chr22	36661869	36661869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacccagcatcctggaaatGagcagaggagtcaagctcac	14	5	11	11	0	2	2	2	1	0	1	3	5	3	4	2	2	4	3	2	2	3	0			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:36661869G>C	ENST00000319136.4	+	7	1302	c.1035G>C	c.(1033-1035)atG>atC	p.M345I	APOL1_ENST00000397279.4_Missense_Mutation_p.M329I|APOL1_ENST00000426053.1_Missense_Mutation_p.M311I|APOL1_ENST00000347595.7_Missense_Mutation_p.M208I|APOL1_ENST00000397278.3_Missense_Mutation_p.M329I|APOL1_ENST00000422706.1_Missense_Mutation_p.M329I	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	329					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TCCTGGAAATGAGCAGAGGAG	0.542													6	47					0	0	0	0	C	36661869	G	C	36661869	3	2	317	1	0	0	0	0	1	0	0	0	807	1290	45	2	1057	2	APOL1	22	36661869	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	6001499	36661869	14642697	469	56802											
EP300	2033	broad.mit.edu	37	chr22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtatacatatcttacctcGatagtgttcatttcttccgt	9	17	6	9	2	3	0	1	0	2	0	5	2	4	0	2	0	2	2	2	0	5	8			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				13	55					0	0	0	0	A	41565529	G	A	41565529	3	1	317	1	0	0	0	0	1	0	0	0	5186	1058	37	1	4297	1	EP300	22	41565529	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4903660	41565529	9739037	470	56803											
PIM3	415116	broad.mit.edu	37	chr22	50356510	50356510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttccggaggagggtctctCcaggtgcgtggtggctcgag	4	10	17	10	3	2	0	0	0	2	0	6	3	4	2	2	6	1	1	2	6	0	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:50356510C>T	ENST00000360612.4	+	5	1225	c.790C>T	c.(790-792)Cca>Tca	p.P264S		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	264	Protein kinase.				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGGTCTCTCCAGGTGCGTG	0.682													8	25					0	0	0	0	T	50356510	C	T	50356510	3	4	317	1	0	0	0	0	1	0	0	0	12001	855	30	2	808	2	PIM3	22	50356510	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	8790981	50356510	948056	471	56804											
TUBGCP6	85378	broad.mit.edu	37	chr22	50656779	50656779	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgctgcatctcgtgcttGaacagctgcagctgacggaa	11	9	11	10	2	1	2	0	2	1	0	2	3	1	3	0	1	7	6	0	1	3	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:50656779G>C	ENST00000248846.5	-	23	5111	c.5007C>G	c.(5005-5007)ttC>ttG	p.F1669L	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1669					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTCGTGCTTGAACAGCTGCA	0.632													12	36					0	0	0	0	C	50656779	G	C	50656779	3	2	317	1	0	0	0	0	1	0	0	0	16866	1281	45	2	464	2	TUBGCP6	22	50656779	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	300269	50656779	647787	472	56805											
PLXNB2	23654	broad.mit.edu	37	chr22	50724643	50724643	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggcctggcggcagtcgtaGaaggggtactggtaggacgt	8	8	18	7	3	0	1	0	0	0	1	1	2	0	2	1	7	1	4	1	7	4	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:50724643G>C	ENST00000449103.1	-	9	1976	c.1836C>G	c.(1834-1836)ttC>ttG	p.F612L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F612L|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	612					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGTCGTAGAAGGGGTACT	0.627													28	79					0	0	0	0	C	50724643	G	C	50724643	3	2	317	1	0	0	0	0	1	0	0	0	12196	933	33	2	3796	2	PLXNB2	22	50724643	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	67864	50724643	579923	473	56806											
ARHGAP6	395	broad.mit.edu	37	chrX	11187648	11187648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacagggcttcataattttCaatcatcttttgcacaacag	13	13	6	9	0	4	0	3	0	1	0	4	1	4	0	0	1	3	2	0	1	4	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:11187648C>T	ENST00000337414.4	-	9	2658	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.E596K|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.E628K|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.E405K|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.E421K|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.E393K|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.E393K	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	596	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCATAATTTTCAATCATCTTT	0.488													14	45					0	0	0	0	T	11187648	C	T	11187648	3	4	317	1	0	0	0	0	1	0	0	0	889	835	29	2	1280	2	ARHGAP6	23	11187648	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08		11187648	144082912	474	56807											
PRPS2	5634	broad.mit.edu	37	chrX	12837668	12837668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaatgtggaatttgctttGatccacaaagagaggaagaa	15	11	11	4	0	0	4	0	2	0	2	1	7	1	6	1	2	1	1	1	2	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:12837668G>C	ENST00000380668.5	+	5	701	c.573G>C	c.(571-573)ttG>ttC	p.L191F	PRPS2_ENST00000398491.2_Missense_Mutation_p.L194F	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	191					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						AATTTGCTTTGATCCACAAAG	0.488													36	120					0	0	0	0	C	12837668	G	C	12837668	3	2	317	1	0	0	0	0	1	0	0	0	12660	1281	45	2	600	2	PRPS2	23	12837668	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1650020	12837668	142432892	475	56808											
DMD	1756	broad.mit.edu	37	chrX	31986604	31986604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgttctgacaacagtttGccgctgcccaatgccatcct	9	11	7	14	1	1	1	0	1	1	0	2	1	2	1	4	0	4	3	4	0	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:31986604G>T	ENST00000357033.4	-	45	6672	c.6466C>A	c.(6466-6468)Caa>Aaa	p.Q2156K	DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.Q2152K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2156					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACAACAGTTTGCCGCTGCCCA	0.393													20	53					1.37657e-19	1.48984e-19	1	0	T	31986604	G	T	31986604	3	4	317	1	0	0	0	0	1	0	0	0	4617	1328	46	4	4879	4	DMD	23	31986604	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	19148936	31986604	123283956	476	56809											
SYTL5	94122	broad.mit.edu	37	chrX	37969686	37969686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtagagattccttttgactCatggaactttgaaaatccaa	14	13	7	7	0	1	3	1	2	0	1	3	5	3	4	2	1	1	1	2	1	5	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:37969686C>T	ENST00000357972.5	+	13	2093	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.S516L|SYTL5_ENST00000456733.2_Missense_Mutation_p.S538L			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	516					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CCTTTTGACTCATGGAACTTT	0.438													18	113					0	0	0	0	T	37969686	C	T	37969686	3	4	317	1	0	0	0	0	1	0	0	0	15577	838	29	2	1663	2	SYTL5	23	37969686	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	5983082	37969686	117300874	477	56810											
PAGE5	90737	broad.mit.edu	37	chrX	55247872	55247872	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaggaaatgaccaagagtcTtcccagccagttggacctgt	12	8	11	10	0	1	3	0	1	1	2	2	5	2	5	4	2	1	1	4	2	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:55247872T>C	ENST00000289619.5	+	2	362	c.117T>C	c.(115-117)tcT>tcC	p.S39S	PAGE5_ENST00000374952.1_Silent_p.S19S|PAGE5_ENST00000374955.3_Silent_p.S19S	NM_130467.3	NP_569734.2	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 (prostate associated)	39										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						ACCAAGAGTCTTCCCAGCCAG	0.348													25	53					0	0	0	0	C	55247872	T	C	55247872	2	2	317	1	0	0	0	0	0	0	0	1	11464	1596	56	5		5	PAGE5	23	55247872	Silent	SNP	T	TCGA-CV-7427-01A-11D-2078-08	17278186	55247872	100022688	478	56811											
SPIN4	139886	broad.mit.edu	37	chrX	62570191	62570191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagtcaccatctttgtagtCatcaagcagcgtgtacatat	12	13	7	9	1	4	0	3	0	1	0	4	0	4	0	1	0	3	3	1	0	5	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:62570191C>T	ENST00000374884.2	-	1	1032	c.454G>A	c.(454-456)Gac>Aac	p.D152N	SPIN4_ENST00000335144.3_Missense_Mutation_p.D170N|SPIN4-AS1_ENST00000451979.1_RNA			Q56A73	SPIN4_HUMAN	spindlin family, member 4	170					gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						TCTTTGTAGTCATCAAGCAGC	0.478													25	91					0	0	0	0	T	62570191	C	T	62570191	3	4	317	1	0	0	0	0	1	0	0	0	15146	826	29	2	245	2	SPIN4	23	62570191	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	7322319	62570191	92700369	479	56812											
LPAR4	2846	broad.mit.edu	37	chrX	78010707	78010707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacaccctctgcaagatctCtggaactgcattccttacca	10	11	6	14	0	2	2	0	1	2	1	4	3	3	3	3	1	4	2	3	1	3	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:78010707C>G	ENST00000435339.2	+	2	746	c.341C>G	c.(340-342)tCt>tGt	p.S114C	LPAR4_ENST00000373301.2_Missense_Mutation_p.S114C	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	114						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGCAAGATCTCTGGAACTGCA	0.433													27	121					0	0	0	0	G	78010707	C	G	78010707	3	3	317	1	0	0	0	0	1	0	0	0	8971	913	32	2	343	2	LPAR4	23	78010707	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	15440516	78010707	77259853	480	56813											
P2RY10	27334	broad.mit.edu	37	chrX	78216233	78216233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaataaagccatcattttCatgatcaacctctctgtggc	14	12	5	10	0	4	1	3	1	1	0	5	1	4	1	2	1	2	0	2	1	5	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:78216233C>G	ENST00000171757.2	+	4	496	c.216C>G	c.(214-216)ttC>ttG	p.F72L	P2RY10_ENST00000544091.1_Missense_Mutation_p.F72L|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	72						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCATCATTTTCATGATCAACC	0.458													12	101					0	0	0	0	G	78216233	C	G	78216233	3	3	317	1	0	0	0	0	1	0	0	0	11418	825	29	2	218	2	P2RY10	23	78216233	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	205526	78216233	77054327	481	56814											
NAP1L3	4675	broad.mit.edu	37	chrX	92928297	92928297	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccattttaaaatctgcttCtgccatcttgcaagcctaca	11	13	5	12	0	3	0	0	0	3	0	3	1	3	0	3	0	5	2	3	0	4	5			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:92928297C>G	ENST00000373079.3	-	1	270	c.7G>C	c.(7-9)Gaa>Caa	p.E3Q	NAP1L3_ENST00000475430.1_Intron	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	3					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						AAATCTGCTTCTGCCATCTTG	0.562													17	55					0	0	0	0	G	92928297	C	G	92928297	3	3	317	1	0	0	0	0	1	0	0	0	10228	922	32	2	1517	2	NAP1L3	23	92928297	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	14712064	92928297	62342263	482	56815											
CENPI	2491	broad.mit.edu	37	chrX	100382652	100382652	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagaacatccattgcttaGaggtatgtgactggaccatg	12	11	10	8	0	0	3	0	1	0	2	1	4	1	4	2	2	3	2	2	2	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:100382652G>C	ENST00000372927.1	+	10	1349	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	CENPI_ENST00000218507.5_Missense_Mutation_p.E358Q|CENPI_ENST00000423383.1_Missense_Mutation_p.E358Q|CENPI_ENST00000372926.1_Missense_Mutation_p.E358Q	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	358					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CCATTGCTTAGAGGTATGTGA	0.353													41	103					0	0	0	0	C	100382652	G	C	100382652	3	2	317	1	0	0	0	0	1	0	0	0	3262	943	33	2	1106	2	CENPI	23	100382652	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	7454355	100382652	54887908	483	56816											
DRP2	1821	broad.mit.edu	37	chrX	100505953	100505953	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccagttcctggagtgggtCaacctggagccccagtccat	7	9	11	14	0	1	0	1	0	0	0	4	2	4	2	6	3	2	1	6	3	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:100505953C>T	ENST00000395209.3	+	16	2273	c.1746C>T	c.(1744-1746)gtC>gtT	p.V582V	DRP2_ENST00000541709.1_Silent_p.V504V|DRP2_ENST00000402866.1_Silent_p.V582V|DRP2_ENST00000538510.1_Silent_p.V582V	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	582					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGGAGTGGGTCAACCTGGAGC	0.537													23	98					0	0	0	0	T	100505953	C	T	100505953	2	4	317	1	0	0	0	0	0	0	0	1	4800	813	29	2		2	DRP2	23	100505953	Silent	SNP	C	TCGA-CV-7427-01A-11D-2078-08	123301	100505953	54764607	484	56817											
ARMCX2	9823	broad.mit.edu	37	chrX	100911314	100911314	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatttgcggattgtctcttGattgcatgaataattggcat	10	16	9	6	1	1	2	0	2	1	0	2	3	1	3	0	2	2	2	0	2	3	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:100911314G>A	ENST00000328766.5	-	5	1714	c.1261C>T	c.(1261-1263)Caa>Taa	p.Q421*	ARMCX2_ENST00000356824.4_Nonsense_Mutation_p.Q421*|ARMCX2_ENST00000330154.2_Nonsense_Mutation_p.Q421*	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	421						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						ATTGTCTCTTGATTGCATGAA	0.413													20	68					0	0	0	0	A	100911314	G	A	100911314	4	1	317	1	0	0	0	0	0	1	0	0	964	1299	45	2	641	2	ARMCX2	23	100911314	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	405361	100911314	54359246	485	56818											
BHLHB9	80823	broad.mit.edu	37	chrX	102004986	102004986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggtgtccataatgttcacCcatttgcccaagagtttatt	9	15	8	9	0	1	1	1	0	0	1	2	1	2	1	3	1	1	2	3	1	3	6			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:102004986C>T	ENST00000372735.1	+	4	1648	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	BHLHB9_ENST00000457056.1_Missense_Mutation_p.P355S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.P355S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.P355S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.P355S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	355						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TAATGTTCACCCATTTGCCCA	0.363													5	73					0	0	0	0	T	102004986	C	T	102004986	3	4	317	1	0	0	0	0	1	0	0	0	1425	623	22	4	1065	4	BHLHB9	23	102004986	Missense_Mutation	SNP	C	TCGA-CV-7427-01A-11D-2078-08	1093672	102004986	53265574	486	56819											
ESX1	80712	broad.mit.edu	37	chrX	103498857	103498857	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgccacaacgtcgggatattGagattcatcgaaaaagttct	13	10	9	9	4	2	1	1	1	1	1	4	4	2	2	1	1	1	1	1	1	4	4			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:103498857G>A	ENST00000372588.4	-	2	567	c.484C>T	c.(484-486)Caa>Taa	p.Q162*		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	162					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TCGGGATATTGAGATTCATCG	0.612													22	70					0	0	0	0	A	103498857	G	A	103498857	4	1	317	1	0	0	0	0	0	1	0	0	5301	1299	45	2	748	2	ESX1	23	103498857	Nonsense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1493871	103498857	51771703	487	56820											
IRS4	8471	broad.mit.edu	37	chrX	107976960	107976960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctgaaggctttgaaggtGatcccccatctccaggcttt	8	12	10	11	0	2	3	0	3	2	0	4	4	3	3	3	3	0	2	3	3	2	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:107976960G>A	ENST00000372129.2	-	1	2691	c.2615C>T	c.(2614-2616)tCa>tTa	p.S872L		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	872						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTTTGAAGGTGATCCCCCATC	0.443													58	201					0	0	0	0	A	107976960	G	A	107976960	3	1	317	1	0	0	0	0	1	0	0	0	7895	1294	45	2	1162	2	IRS4	23	107976960	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	4478103	107976960	47293600	488	56821											
IRS4	8471	broad.mit.edu	37	chrX	107976981	107976981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcccccatctccaggctttGagaatgatccctcacctgaa	10	10	6	15	0	2	3	1	3	1	1	5	4	4	3	5	1	0	1	5	1	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:107976981G>A	ENST00000372129.2	-	1	2670	c.2594C>T	c.(2593-2595)tCa>tTa	p.S865L		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	865						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCCAGGCTTTGAGAATGATCC	0.468													60	212					0	0	0	0	A	107976981	G	A	107976981	3	1	317	1	0	0	0	0	1	0	0	0	7895	1294	45	2	1183	2	IRS4	23	107976981	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	21	107976981	47293579	489	56822											
WDR44	54521	broad.mit.edu	37	chrX	117526862	117526862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacctgtgagaaaccagtaGatgaaaccacgaagttaact	18	7	8	8	1	0	3	0	2	0	2	0	5	0	3	3	0	4	2	3	0	6	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:117526862G>C	ENST00000254029.3	+	4	849	c.454G>C	c.(454-456)Gat>Cat	p.D152H	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.D152H|WDR44_ENST00000371822.5_Missense_Mutation_p.D127H	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	152	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GAAACCAGTAGATGAAACCAC	0.378													25	91					0	0	0	0	C	117526862	G	C	117526862	3	2	317	1	0	0	0	0	1	0	0	0	17392	942	33	2	468	2	WDR44	23	117526862	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	9549881	117526862	37743698	490	56823											
SASH3	54440	broad.mit.edu	37	chrX	128926786	128926786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagcctaagaccctgcatGagctgctggagcgcatcggc	9	6	12	14	2	0	2	0	1	0	1	1	3	0	3	3	2	5	4	3	2	2	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:128926786G>A	ENST00000356892.3	+	6	889	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	259	SAM.									breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GACCCTGCATGAGCTGCTGGA	0.607													13	15					0	0	0	0	A	128926786	G	A	128926786	3	1	317	1	0	0	0	0	1	0	0	0	13935	1291	45	2	797	2	SASH3	23	128926786	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	11399924	128926786	26343774	491	56824											
GPR101	83550	broad.mit.edu	37	chrX	136113291	136113291	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccccccagatcatggagcaGagagcattgcgctcatcaaa	12	6	10	13	1	3	2	3	0	0	2	3	4	3	3	3	1	3	3	3	1	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:136113291G>C	ENST00000298110.1	-	1	542	c.543C>G	c.(541-543)ctC>ctG	p.L181L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	181						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCATGGAGCAGAGAGCATTGC	0.572													11	22					0	0	0	0	C	136113291	G	C	136113291	2	2	317	1	0	0	0	0	0	0	0	1	6671	929	33	2		2	GPR101	23	136113291	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	7186505	136113291	19157269	492	56825											
FMR1NB	158521	broad.mit.edu	37	chrX	147084799	147084799	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaatctctggaagaagAttccgcattggaagctttgc	10	11	11	9	1	1	2	0	0	1	2	3	4	2	4	2	3	2	2	2	3	4	3			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:147084799A>T	ENST00000370467.3	+	2	430	c.356A>T	c.(355-357)gAt>gTt	p.D119V		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	119						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAAGAAGATTCCGCATTG	0.353													26	62					0	0	0	0	T	147084799	A	T	147084799	3	4	317	1	0	0	0	0	1	0	0	0	6006	333	12	5	362	5	FMR1NB	23	147084799	Missense_Mutation	SNP	A	TCGA-CV-7427-01A-11D-2078-08	10971508	147084799	8185761	493	56826											
MAGEA8	4107	broad.mit.edu	37	chrX	149013285	149013285	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaccgacagcactctgtGgagccaatccgatgagggtt	9	9	12	11	2	2	1	1	1	1	0	3	4	3	2	3	2	2	2	3	2	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:149013285G>C	ENST00000535454.1	+	4	788	c.239G>C	c.(238-240)tGg>tCg	p.W80S	MAGEA8_ENST00000286482.1_Missense_Mutation_p.W80S|MAGEA8_ENST00000542674.1_Missense_Mutation_p.W80S|MAGEA8_ENST00000493910.1_3'UTR	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	80										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AGCACTCTGTGGAGCCAATCC	0.597													14	52					0	0	0	0	C	149013285	G	C	149013285	3	2	317	1	0	0	0	0	1	0	0	0	9238	1357	47	4	241	4	MAGEA8	23	149013285	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	1928486	149013285	6257275	494	56827											
ABCD1	215	broad.mit.edu	37	chrX	153006073	153006073	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaccaggtgatctacccGgactcagtggaggacatgca	10	7	13	11	2	2	2	1	2	1	0	2	5	2	5	2	4	2	1	2	4	1	1			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:153006073G>A	ENST00000218104.3	+	7	2079	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	560	ABC transporter.		P -> L (in X-ALD; CALD-type).|P -> R (in X-ALD; AMN and ALMD-types).|P -> S (in X-ALD).		fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGATCTACCCGGACTCAGTGG	0.637													15	54					0	0	0	0	A	153006073	G	A	153006073	2	1	317	1	0	0	0	0	0	0	0	1	60	1103	39	1		1	ABCD1	23	153006073	Silent	SNP	G	TCGA-CV-7427-01A-11D-2078-08	3992788	153006073	2264487	495	56828											
FAM50A	9130	broad.mit.edu	37	chrX	153677638	153677638	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttcggaaagacttcagtGagctgaggtgtgaggtgtgc	8	11	15	7	1	1	4	1	3	0	1	3	5	2	5	1	3	2	1	1	3	1	2			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:153677638G>C	ENST00000393600.3	+	8	828	c.718G>C	c.(718-720)Gag>Cag	p.E240Q		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	240					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGACTTCAGTGAGCTGAGGTG	0.592													11	33					0	0	0	0	C	153677638	G	C	153677638	3	2	317	1	0	0	0	0	1	0	0	0	5624	1291	45	2	748	2	FAM50A	23	153677638	Missense_Mutation	SNP	G	TCGA-CV-7427-01A-11D-2078-08	671565	153677638	1592922	496	56829											
KIAA2013	90231	broad.mit.edu	37	chr1	11983424	11983424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgactccatctggtctcgctCcctgtggctcagggaggggc	4	9	14	14	2	3	0	1	0	2	0	6	2	5	1	2	5	0	2	2	5	0	0			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:11983424C>T	ENST00000376572.3	-	2	1341	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	KIAA2013_ENST00000376576.3_Missense_Mutation_p.E386K	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	386						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTCTCGCTCCCTGTGGCTC	0.637													5	75					0	0	0	0	T	11983424	C	T	11983424	3	4	318	1	0	0	0	0	1	0	0	0	8318	864	30	2	756	2	KIAA2013	1	11983424	Missense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08		11983424	237267197	1	56830											
VPS13D	55187	broad.mit.edu	37	chr1	12304423	12304423	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatacaggatttcaatgAtgaaaaggagaagctgttgg	17	9	12	3	0	1	3	1	2	0	1	1	6	1	4	0	3	2	2	0	3	7	3			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:12304423A>G	ENST00000358136.3	+	4	426	c.296A>G	c.(295-297)gAt>gGt	p.D99G	VPS13D_ENST00000356315.4_Missense_Mutation_p.D99G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	99					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATTTCAATGATGAAAAGGAG	0.478													26	61					0	0	0	0	G	12304423	A	G	12304423	3	3	318	1	0	0	0	0	1	0	0	0	17288	333	12	5	306	5	VPS13D	1	12304423	Missense_Mutation	SNP	A	TCGA-CV-7429-01A-11D-2129-08	320999	12304423	236946198	2	56831											
RUNX3	864	broad.mit.edu	37	chr1	25245773	25245773	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggtcaccttgatggctcGgtggtaggtcgccacttggg	5	10	15	11	3	1	1	1	1	0	0	3	1	1	1	2	6	0	2	2	6	1	3			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:25245773G>A	ENST00000399916.1	-	4	982	c.544C>T	c.(544-546)Cga>Tga	p.R182*	RUNX3_ENST00000338888.3_Nonsense_Mutation_p.R182*|RUNX3_ENST00000540420.1_Nonsense_Mutation_p.R75*|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000308873.6_Nonsense_Mutation_p.R168*	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	168	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TTGATGGCTCGGTGGTAGGTC	0.652													10	62					0	0	0	0	A	25245773	G	A	25245773	4	1	318	1	0	0	0	0	0	1	0	0	13834	1124	39	1	757	1	RUNX3	1	25245773	Nonsense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08	12941350	25245773	224004848	3	56832											
ARID1A	8289	broad.mit.edu	37	chr1	27088729	27088729	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtcagccttccggaggaCagatacacacaggcatgggc	10	5	13	13	3	1	1	1	0	0	1	2	3	2	3	2	4	2	1	2	4	1	2			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:27088729C>T	ENST00000324856.7	+	7	2709	c.2338C>T	c.(2338-2340)Cag>Tag	p.Q780*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q397*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q780*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	780					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCCGGAGGACAGATACACAC	0.577			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								22	70					0	0	0	0	T	27088729	C	T	27088729	4	4	318	1	0	0	0	0	0	1	0	0	915	479	17	4	2364	4	ARID1A	1	27088729	Nonsense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08	1842956	27088729	222161892	4	56833											
INADL	10207	broad.mit.edu	37	chr1	62321821	62321821	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctcagtcaatgaatactgTttggacaacacctcacttgc	11	12	7	11	0	3	1	3	1	1	0	4	2	3	2	1	1	3	1	1	1	4	3			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:62321821T>C	ENST00000371158.2	+	18	2346	c.2232T>C	c.(2230-2232)tgT>tgC	p.C744C	INADL_ENST00000316485.6_Silent_p.C744C	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	744	PDZ 5.		C -> R (in dbSNP:rs1134764).		intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATGAATACTGTTTGGACAACA	0.493													42	76					0	0	0	0	C	62321821	T	C	62321821	2	2	318	1	0	0	0	0	0	0	0	1	7784	1731	60	5		5	INADL	1	62321821	Silent	SNP	T	TCGA-CV-7429-01A-11D-2129-08	35233092	62321821	186928800	5	56834											
SASS6	163786	broad.mit.edu	37	chr1	100550935	100550935	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgaagacgcagaggggagCgctgtgggtttggaagatgt	9	8	19	5	2	0	4	0	1	0	3	0	6	0	6	0	4	1	4	0	4	2	1			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:100550935C>T	ENST00000287482.5	-	17	2063	c.1923G>A	c.(1921-1923)gcG>gcA	p.A641A	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Silent_p.A474A	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	641					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CAGAGGGGAGCGCTGTGGGTT	0.408													54	117					0	0	0	0	T	100550935	C	T	100550935	2	4	318	1	0	0	0	0	0	0	0	1	13936	755	27	1		1	SASS6	1	100550935	Silent	SNP	C	TCGA-CV-7429-01A-11D-2129-08	38229114	100550935	148699686	6	56835											
FLAD1	80308	broad.mit.edu	37	chr1	154962992	154962992	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcccgcattcatgcgcatCaacccactgctggtaatggg	8	9	11	13	2	2	0	2	0	0	0	2	0	2	0	2	3	3	4	2	3	2	2			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:154962992C>T	ENST00000292180.3	+	5	1864	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368433.1_3'UTR|FLAD1_ENST00000315144.10_Silent_p.I417I|FLAD1_ENST00000368432.1_Silent_p.I417I|FLAD1_ENST00000368428.1_Silent_p.I55I	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	514	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCATGCGCATCAACCCACTGC	0.607													7	28					0	0	0	0	T	154962992	C	T	154962992	2	4	318	1	0	0	0	0	0	0	0	1	5965	816	29	2		2	FLAD1	1	154962992	Silent	SNP	C	TCGA-CV-7429-01A-11D-2129-08	54412057	154962992	94287629	7	56836											
TMCO1	54499	broad.mit.edu	37	chr1	165721337	165721337	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatataaaaggacactcAcatggaattgaacattccca	18	8	6	9	0	1	1	1	1	0	0	2	3	2	3	1	2	2	1	1	2	6	4			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:165721337A>G	ENST00000367881.5	-	5	752		c.e5+1		TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					AAGGACACTCACATGGAATTG	0.299													5	62					0	0	0	0	G	165721337	A	G	165721337	5	3	318	1	0	0	0	0	0	0	1	0	16089	173	6	5	253	5	TMCO1	1	165721337	Splice_Site	SNP	A	TCGA-CV-7429-01A-11D-2129-08	10758345	165721337	83529284	8	56837											
C1orf35	79169	broad.mit.edu	37	chr1	228288911	228288911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccccgcttcctcctcttaCagcagggggagttggagtcg	5	10	13	13	2	1	0	0	0	1	0	5	2	4	2	4	3	2	3	4	3	1	3			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:228288911C>A	ENST00000272139.4	-	8	947	c.713G>T	c.(712-714)tGt>tTt	p.C238F	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	238										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CCTCCTCTTACAGCAGGGGGA	0.647													28	25					2.48779e-11	2.89624e-11	1	0	A	228288911	C	A	228288911	3	1	318	1	0	0	0	0	1	0	0	0	2058	478	17	4	82	4	C1orf35	1	228288911	Missense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08	62567574	228288911	20961710	9	56838											
OR2L13	284521	broad.mit.edu	37	chr1	248262831	248262831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcacctcatccacgtggatCctcgtctccacacaccgatg	8	10	6	17	3	3	0	2	0	1	0	7	2	5	1	5	1	0	0	5	1	0	1			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:248262831C>T	ENST00000366478.2	+	3	491	c.154C>T	c.(154-156)Cct>Tct	p.P52S	OR2L13_ENST00000358120.2_Missense_Mutation_p.P52S	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.P52S(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCACGTGGATCCTCGTCTCCA	0.498													17	137					0	0	0	0	T	248262831	C	T	248262831	3	4	318	1	0	0	0	0	1	0	0	0	11077	855	30	2	156	2	OR2L13	1	248262831	Missense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08	19973920	248262831	987790	10	56839											
NFE2L2	4780	broad.mit.edu	37	chr2	178098804	178098804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaattgggagaaattcacCtgtctcttcatctagttgta	10	15	8	8	0	4	2	2	1	2	1	5	3	4	2	1	1	0	2	1	1	4	6			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr2:178098804C>A	ENST00000397062.3	-	2	795	c.241G>T	c.(241-243)Ggt>Tgt	p.G81C	NFE2L2_ENST00000446151.2_Missense_Mutation_p.G65C|NFE2L2_ENST00000423513.1_Missense_Mutation_p.G65C|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G65C|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G65C	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	81					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G81S(2)|p.G81_F83delGEF(1)|p.G81C(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGAAATTCACCTGTCTCTTCA	0.438			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			46	68					1.42923e-14	1.74187e-14	1	0	A	178098804	C	A	178098804	3	1	318	1	0	0	0	0	1	0	0	0	10438	681	24	4	1592	4	NFE2L2	2	178098804	Missense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08		178098804	65100569	11	56840											
TTN	7273	broad.mit.edu	37	chr2	179600758	179600758	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccttacccacaaaagtTgtaagggacttaggtctgga	11	10	11	9	0	1	0	0	0	1	0	1	2	1	2	2	3	2	3	2	3	5	4			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr2:179600758T>C	ENST00000589042.1	-	50	14639	c.14415A>G	c.(14413-14415)acA>acG	p.T4805T	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.T4488T|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.T3561T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4488	Ig-like 28.						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)			CCACAAAAGTTGTAAGGGACT	0.458													25	54					0	0	0	0	C	179600758	T	C	179600758	2	2	318	1	0	0	0	0	0	0	0	1	16831	1799	63	5		5	TTN	2	179600758	Silent	SNP	T	TCGA-CV-7429-01A-11D-2129-08	1501954	179600758	63598615	12	56841											
SP140	11262	broad.mit.edu	37	chr2	231155199	231155199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaaagcacaaagatgaaaCtgtggattttaaggctcctt	16	10	9	6	0	0	3	0	1	0	2	1	4	1	4	1	2	2	2	1	2	5	3			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr2:231155199C>A	ENST00000392045.3	+	19	1859	c.1745C>A	c.(1744-1746)aCt>aAt	p.T582N	SP140_ENST00000417495.3_Missense_Mutation_p.T468N|SP140_ENST00000350136.5_Missense_Mutation_p.T451N|SP140_ENST00000343805.6_Missense_Mutation_p.T522N|SP140_ENST00000420434.3_Missense_Mutation_p.T555N|SP140_ENST00000486687.2_Missense_Mutation_p.T506N	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	582	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAGATGAAACTGTGGATTTT	0.428													34	104					4.02929e-09	4.62183e-09	1	0	A	231155199	C	A	231155199	3	1	318	1	0	0	0	0	1	0	0	0	15050	565	20	4	1936	4	SP140	2	231155199	Missense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08	51554441	231155199	12044174	13	56842											
TMEM207	131920	broad.mit.edu	37	chr3	190158157	190158157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagagaagagctgccacCaaaaccagcagcaggaggat	16	2	11	12	0	0	2	0	0	0	2	0	5	0	4	4	2	5	3	4	2	3	0			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr3:190158157C>A	ENST00000354905.2	-	4	246	c.180G>T	c.(178-180)ttG>ttT	p.L60F		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	60						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		GAGCTGCCACCAAAACCAGCA	0.517													9	32					0.000274275	0.000289101	1	0	A	190158157	C	A	190158157	3	1	318	1	0	0	0	0	1	0	0	0	16226	593	21	4	268	4	TMEM207	3	190158157	Missense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08		190158157	7864273	14	56843											
UGT2B7	7364	broad.mit.edu	37	chr4	69962247	69962247	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattgcaccaggatgtctgtGaaatggacttcagtaatttt	11	14	9	7	0	2	1	1	1	1	0	2	3	2	3	1	2	1	2	1	2	2	5			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr4:69962247G>A	ENST00000305231.7	+	1	55	c.9G>A	c.(7-9)gtG>gtA	p.V3V	UGT2B7_ENST00000508661.1_Silent_p.V3V|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	3					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGATGTCTGTGAAATGGACTT	0.408													15	77					0	0	0	0	A	69962247	G	A	69962247	2	1	318	1	0	0	0	0	0	0	0	1	17058	1277	45	2		2	UGT2B7	4	69962247	Silent	SNP	G	TCGA-CV-7429-01A-11D-2129-08		69962247	121192029	15	56844											
FSTL5	56884	broad.mit.edu	37	chr4	162307374	162307374	+	Frame_Shift_Del	DEL	T	T	-																															gagtgcccgtcacatcactaTtgaacccaatgactgagtca																										TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr4:162307374delT	ENST00000306100.5	-	16	2505	c.2069delA	c.(2068-2070)atfs	p.N690fs	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Frame_Shift_Del_p.N689fs|FSTL5_ENST00000427802.2_Frame_Shift_Del_p.N680fs|FSTL5_ENST00000379164.4_Frame_Shift_Del_p.N689fs	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	690						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CACATCACTATTGAACCCAAT	0.488													17	56	---	---	---	---					-	162307374	T	-	162307374	7	5	318	1	0	1	0	1	0	0	0	0	6128	1493	52	0	478	0	FSTL5	4	162307374	Frame_Shift_Del	DEL	T	TCGA-CV-7429-01A-11D-2129-08	92345127	162307374	28846902	16	56845											
GALNT10	55568	broad.mit.edu	37	chr5	153783633	153783633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaactggaagcagaaacGtcatcctctctcttccttct	9	12	8	12	1	4	2	1	1	3	1	7	3	6	3	2	2	3	1	2	2	3	2			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr5:153783633G>A	ENST00000377657.3	+	1	39	c.39G>A	c.(37-39)acG>acA	p.T13T	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000519544.1_Intron|GALNT10_ENST00000297107.6_Intron			Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	0						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AAGCAGAAACGTCATCCTCTC	0.562													3	36					0	0	0	0	A	153783633	G	A	153783633	2	1	318	1	0	0	0	0	0	0	0	1	6257	1160	40	1		1	GALNT10	5	153783633	Silent	SNP	G	TCGA-CV-7429-01A-11D-2129-08		153783633	27131627	17	56846											
SAP30L	79685	broad.mit.edu	37	chr5	153826344	153826344	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatctcgcagaagaaactCaagctggacatcgacaagag	16	5	10	10	2	2	3	1	0	1	3	4	5	2	4	0	1	3	3	0	1	4	0			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr5:153826344C>A	ENST00000297109.6	+	1	828	c.180C>A	c.(178-180)ctC>ctA	p.L60L	SAP30L_ENST00000426761.2_Silent_p.L60L|SAP30L_ENST00000523198.1_3'UTR|SAP30L_ENST00000440364.2_Silent_p.L60L	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGAAGAAACTCAAGCTGGACA	0.687													5	12					1.23904e-05	1.34229e-05	1	0	A	153826344	C	A	153826344	2	1	318	1	0	0	0	0	0	0	0	1	13921	813	29	2		2	SAP30L	5	153826344	Silent	SNP	C	TCGA-CV-7429-01A-11D-2129-08	42711	153826344	27088916	18	56847											
HIST1H2BL	8340	broad.mit.edu	37	chr6	27775637	27775638	+	Frame_Shift_Ins	INS	-	-	TT																															gggccttggtcaccgccttcINSttggagcccttcttcggggc																										TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:27775637_27775638insTT	ENST00000377401.2	-	1	71_72	c.47_48insAA	c.(46-48)aaafs	p.K16fs		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	16					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TCACCGCCTTCTTGGAGCCCTT	0.54													7	141	---	---	---	---					TT	27775638	-	TT	27775637	7	5	318	1	0	1	1	0	0	0	0	0	7201	912	32	0	336	0	HIST1H2BL	6	27775637	Frame_Shift_Ins	INS	-	TCGA-CV-7429-01A-11D-2129-08		27775637	143339430	19	56848											
KLHL31	401265	broad.mit.edu	37	chr6	53519325	53519325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaaagatctgcagcgtatTttactctcttttggtcaaat	11	16	6	8	1	4	1	2	0	2	1	5	1	4	1	0	1	3	2	0	1	5	5			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:53519325T>C	ENST00000370905.3	-	2	886	c.746A>G	c.(745-747)aAa>aGa	p.K249R	KLHL31_ENST00000407079.1_Missense_Mutation_p.K249R	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	249	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGCAGCGTATTTTACTCTCTT	0.373													26	97					0	0	0	0	C	53519325	T	C	53519325	3	2	318	1	0	0	0	0	1	0	0	0	8437	1841	64	5	1166	5	KLHL31	6	53519325	Missense_Mutation	SNP	T	TCGA-CV-7429-01A-11D-2129-08	25743688	53519325	117595742	20	56849											
HS3ST5	222537	broad.mit.edu	37	chr6	114379002	114379002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatatgctgggctcttttCaattgtgatttgctgagggt	9	16	11	5	0	2	2	1	2	1	0	2	2	2	2	0	2	2	3	0	2	4	5			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:114379002C>G	ENST00000312719.5	-	5	1648	c.460G>C	c.(460-462)Gaa>Caa	p.E154Q	RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.E154Q|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	154					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	p.E154K(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGGCTCTTTTCAATTGTGATT	0.383													29	145					0	0	0	0	G	114379002	C	G	114379002	3	3	318	1	0	0	0	0	1	0	0	0	7418	835	29	2	584	2	HS3ST5	6	114379002	Missense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08	60859677	114379002	56736065	21	56850											
QKI	9444	broad.mit.edu	37	chr6	163956139	163956139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagttgaagaagtgaaGaaattattggtacctgcagt	15	10	12	4	0	0	5	0	2	0	3	0	5	0	5	1	1	3	4	1	1	6	4			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:163956139G>T	ENST00000361752.3	+	4	1079	c.528G>T	c.(526-528)aaG>aaT	p.K176N	QKI_ENST00000361195.2_Missense_Mutation_p.K176N|QKI_ENST00000453779.2_Missense_Mutation_p.K176N|QKI_ENST00000275262.7_Missense_Mutation_p.K176N|QKI_ENST00000392127.2_Missense_Mutation_p.K176N|QKI_ENST00000424802.3_Missense_Mutation_p.K176N	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	176					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AAGAAGTGAAGAAATTATTGG	0.343													24	96					1.75199e-13	2.10238e-13	1	0	T	163956139	G	T	163956139	3	4	318	1	0	0	0	0	1	0	0	0	12955	933	33	2	542	2	QKI	6	163956139	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08	49577137	163956139	7158928	22	56851											
HGF	3082	broad.mit.edu	37	chr7	81381502	81381502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgcttgtgaaacaccaggGtcccccttcttcccctcgag	7	11	8	15	1	1	1	0	1	1	0	4	2	3	1	5	1	2	1	5	1	1	4			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr7:81381502G>A	ENST00000222390.5	-	5	785	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S	HGF_ENST00000453411.1_Missense_Mutation_p.P182S|HGF_ENST00000457544.2_Missense_Mutation_p.P182S|HGF_ENST00000423064.2_Missense_Mutation_p.P187S|HGF_ENST00000444829.2_Missense_Mutation_p.P187S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	187	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.P187S(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AAACACCAGGGTCCCCCTTCT	0.443													8	31					0	0	0	0	A	81381502	G	A	81381502	3	1	318	1	0	0	0	0	1	0	0	0	7135	1261	44	4	1703	4	HGF	7	81381502	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08		81381502	77757161	23	56852											
PRKDC	5591	broad.mit.edu	37	chr8	48701554	48701555	+	Frame_Shift_Ins	INS	-	-	T																															tttcatacattttttcaatgINSttttttttatttacaggggt																										TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr8:48701554_48701555insT	ENST00000314191.2	-	77	10867_10868	c.10811_10812insA	c.(10810-10812)aatfs	p.N3604fs	PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.N3604fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3605					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTTTTTCAATGTTTTTTTTATT	0.401								Non-homologous end-joining					15	69	---	---	---	---					T	48701555	-	T	48701554	7	5	318	1	0	1	1	0	0	0	0	0	12601	1368	48	0	1615	0	PRKDC	8	48701554	Frame_Shift_Ins	INS	-	TCGA-CV-7429-01A-11D-2129-08		48701554	97662468	24	56853											
ZFAT	57623	broad.mit.edu	37	chr8	135614165	135614165	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaggaggtatcatttttCaacaaaaaatcatctgaaac	16	10	8	7	1	4	1	3	1	1	0	4	3	4	3	0	3	2	1	0	3	6	3			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr8:135614165C>A	ENST00000520727.1	-	7	2060	c.1761G>T	c.(1759-1761)ttG>ttT	p.L587F	ZFAT_ENST00000523399.1_Missense_Mutation_p.L537F|ZFAT_ENST00000377838.3_Missense_Mutation_p.L599F|ZFAT_ENST00000520356.1_Missense_Mutation_p.L587F|ZFAT_ENST00000429442.2_Missense_Mutation_p.L587F|ZFAT_ENST00000520214.1_Missense_Mutation_p.L587F	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TATCATTTTTCAACAAAAAAT	0.537													9	37					1.12685e-05	1.23795e-05	1	0	A	135614165	C	A	135614165	3	1	318	1	0	0	0	0	1	0	0	0	17727	825	29	2	1978	2	ZFAT	8	135614165	Missense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08	86912611	135614165	10749857	25	56854											
CDH23	64072	broad.mit.edu	37	chr10	73569779	73569779	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcggcttcgaggaggagttCatccacctgctctccaacat	8	9	10	14	3	2	0	1	0	1	0	5	3	3	2	3	3	2	3	3	3	1	2			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr10:73569779C>T	ENST00000224721.6	+	60	8945	c.8940C>T	c.(8938-8940)ttC>ttT	p.F2980F	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.F735F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2975					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGAGGAGTTCATCCACCTGC	0.602													26	102					0	0	0	0	T	73569779	C	T	73569779	2	4	318	1	0	0	0	0	0	0	0	1	3137	825	29	2		2	CDH23	10	73569779	Silent	SNP	C	TCGA-CV-7429-01A-11D-2129-08		73569779	61964968	26	56855											
RPP30	10556	broad.mit.edu	37	chr10	92634657	92634657	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttgctatcaatcatatCgttgactttaaggaaaagaa	14	14	8	5	1	2	2	2	1	0	1	3	3	2	3	0	1	1	4	0	1	7	7			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr10:92634657C>A	ENST00000413330.1	+	2	149	c.114C>A	c.(112-114)atC>atA	p.I38I	RPP30_ENST00000371703.3_Silent_p.I38I	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	38					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						TCAATCATATCGTTGACTTTA	0.294													12	50					3.27435e-08	3.64856e-08	1	0	A	92634657	C	A	92634657	2	1	318	1	0	0	0	0	0	0	0	1	13697	874	31	3		3	RPP30	10	92634657	Silent	SNP	C	TCGA-CV-7429-01A-11D-2129-08	19064878	92634657	42900090	27	56856											
TAF5	6877	broad.mit.edu	37	chr10	105139408	105139408	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagaaattgaggtaccttTggatgacgaggatgaagagg	14	8	14	5	1	0	5	0	3	0	2	0	8	0	7	2	4	1	1	2	4	3	3			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr10:105139408T>G	ENST00000369839.3	+	4	1180	c.1157T>G	c.(1156-1158)tTg>tGg	p.L386W	TAF5_ENST00000351396.4_Missense_Mutation_p.L386W	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	386					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GAGGTACCTTTGGATGACGAG	0.308													9	49					0	0	0	0	G	105139408	T	G	105139408	3	3	318	1	0	0	0	0	1	0	0	0	15619	1821	63	5	1171	5	TAF5	10	105139408	Missense_Mutation	SNP	T	TCGA-CV-7429-01A-11D-2129-08	12504751	105139408	30395339	28	56857											
CNGA4	1262	broad.mit.edu	37	chr11	6262969	6262969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtatgctgtgctcggtgCagggctctactttggggaga	7	11	15	8	1	1	1	0	0	1	1	2	2	1	1	0	4	4	5	0	4	2	3			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:6262969C>A	ENST00000379936.2	+	5	1341	c.1226C>A	c.(1225-1227)gCa>gAa	p.A409E	CNGA4_ENST00000533426.1_Missense_Mutation_p.A178E	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	409					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCTCGGTGCAGGGCTCTAC	0.537													39	152					2.24893e-16	2.8293e-16	1	0	A	6262969	C	A	6262969	3	1	318	1	0	0	0	0	1	0	0	0	3629	710	25	4	1244	4	CNGA4	11	6262969	Missense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08		6262969	128743547	29	56858											
USH1C	10083	broad.mit.edu	37	chr11	17548774	17548774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctggcctcactcacgtctCactttgatggacacagtttt	7	14	7	13	1	4	1	3	1	2	0	5	2	4	2	1	2	0	1	1	2	0	3			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:17548774C>T	ENST00000005226.7	-	5	491	c.492G>A	c.(490-492)gtG>gtA	p.V164V	USH1C_ENST00000318024.4_Silent_p.V164V|USH1C_ENST00000527020.1_Silent_p.V164V|USH1C_ENST00000527720.1_Silent_p.V133V	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	164	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ACTCACGTCTCACTTTGATGG	0.572													19	65					0	0	0	0	T	17548774	C	T	17548774	2	4	318	1	0	0	0	0	0	0	0	1	17130	813	29	2		2	USH1C	11	17548774	Silent	SNP	C	TCGA-CV-7429-01A-11D-2129-08	11285805	17548774	117457742	30	56859											
FRMD8	83786	broad.mit.edu	37	chr11	65161133	65161133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaccagtgccccagacgatGacgtggccatgggtcagtgc	8	7	13	13	2	2	2	2	1	0	1	2	3	2	2	4	2	2	0	4	2	0	0			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:65161133G>A	ENST00000317568.5	+	4	506	c.343G>A	c.(343-345)Gac>Aac	p.D115N	FRMD8_ENST00000355991.5_Missense_Mutation_p.D59N|FRMD8_ENST00000416776.2_Intron	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	115	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CCCAGACGATGACGTGGCCAT	0.652													5	24					0	0	0	0	A	65161133	G	A	65161133	3	1	318	1	0	0	0	0	1	0	0	0	6104	1290	45	2	353	2	FRMD8	11	65161133	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08	47612359	65161133	69845383	31	56860											
EFEMP2	30008	broad.mit.edu	37	chr11	65635459	65635459	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgctccgaggtgatggtcAtgtagcggtgcacaatggat	8	10	14	9	3	1	1	1	1	0	0	3	3	3	2	2	4	2	3	2	4	2	1			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:65635459A>T	ENST00000307998.6	-	10	1273	c.1043T>A	c.(1042-1044)aTg>aAg	p.M348K	EFEMP2_ENST00000528176.1_Missense_Mutation_p.M348K	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	348					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGTGATGGTCATGTAGCGGTG	0.612													5	86					0	0	0	0	T	65635459	A	T	65635459	3	4	318	1	0	0	0	0	1	0	0	0	4978	217	8	5	296	5	EFEMP2	11	65635459	Missense_Mutation	SNP	A	TCGA-CV-7429-01A-11D-2129-08	474326	65635459	69371057	32	56861											
ARHGEF12	23365	broad.mit.edu	37	chr11	120352148	120352148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatttcaccattcacccccGaatttctggtccagcagcgc	9	10	6	16	2	3	0	2	0	1	0	4	1	4	0	4	1	2	1	4	1	2	3			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:120352148G>A	ENST00000397843.2	+	39	4583	c.4417G>A	c.(4417-4419)Gaa>Aaa	p.E1473K	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.E1454K|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.E1370K	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1473					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATTCACCCCCGAATTTCTGGT	0.532			T	MLL	AML								22	65					0	0	0	0	A	120352148	G	A	120352148	3	1	318	1	0	0	0	0	1	0	0	0	899	1059	37	1	4571	1	ARHGEF12	11	120352148	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08	54716689	120352148	14654368	33	56862											
RAPGEF3	10411	broad.mit.edu	37	chr12	48142708	48142708	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccgcatggtctttgcctCcacatcctggagaacaggcc	8	8	10	15	1	1	1	0	0	1	1	3	2	3	1	5	3	3	1	5	3	1	1			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:48142708C>A	ENST00000405493.2	-	11	1131	c.922G>T	c.(922-924)Gag>Tag	p.E308*	RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.E308*|RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.E308*|RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.E308*|RAPGEF3_ENST00000449771.2_Nonsense_Mutation_p.E350*|RAPGEF3_ENST00000395358.3_Nonsense_Mutation_p.E350*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.E350*	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	308					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GTCTTTGCCTCCACATCCTGG	0.592													30	93					3.99451e-17	5.10773e-17	1	0	A	48142708	C	A	48142708	4	1	318	1	0	0	0	0	0	1	0	0	13127	864	30	2	1795	2	RAPGEF3	12	48142708	Nonsense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08		48142708	85709187	34	56863											
SART3	9733	broad.mit.edu	37	chr12	108917341	108917341	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagggccgttctcagcctGaggagctgcagcacttgggc	6	7	16	12	1	1	1	1	1	1	0	2	2	1	2	2	4	4	5	2	4	0	2			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:108917341G>C	ENST00000228284.3	-	19	3019	c.2785C>G	c.(2785-2787)Cag>Gag	p.Q929E	SART3_ENST00000431469.2_Missense_Mutation_p.Q893E	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	929					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTCTCAGCCTGAGGAGCTGCA	0.602									Porokeratosis				34	84					0	0	0	0	C	108917341	G	C	108917341	3	2	318	1	0	0	0	0	1	0	0	0	13933	1299	45	2	110	2	SART3	12	108917341	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08	60774633	108917341	24934554	35	56864											
ATXN2	6311	broad.mit.edu	37	chr12	111893892	111893892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctgaacgtgagaaggatGgatcgtaaagacagtctgtt	12	9	14	6	3	1	3	0	2	1	2	2	6	1	5	0	3	1	3	0	3	4	2			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:111893892G>A	ENST00000377617.3	-	23	3846	c.3685C>T	c.(3685-3687)Cat>Tat	p.H1229Y	ATXN2_ENST00000542287.2_Missense_Mutation_p.H964Y|ATXN2_ENST00000535949.1_Missense_Mutation_p.H922Y|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000389153.4_Missense_Mutation_p.H966Y	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1229					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGAGAAGGATGGATCGTAAAG	0.557													39	247					0	0	0	0	A	111893892	G	A	111893892	3	1	318	1	0	0	0	0	1	0	0	0	1215	1348	47	4	268	4	ATXN2	12	111893892	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08	2976551	111893892	21958003	36	56865											
SOX1	6656	broad.mit.edu	37	chr13	112722100	112722100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcggcggcggcggcggggGcgccaaggccaaccaggacc	6	0	21	14	6	0	0	0	0	0	0	0	1	0	1	4	9	1	0	4	9	2	0			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr13:112722100G>A	ENST00000330949.1	+	1	188	c.128G>A	c.(127-129)gGc>gAc	p.G43D		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	43	Poly-Gly.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		ggcggcgggggcgCCAAGGCC	0.781													5	2					0	0	0	0	A	112722100	G	A	112722100	3	1	318	1	0	0	0	0	1	0	0	0	15028	1203	42	4	130	4	SOX1	13	112722100	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08		112722100	2447778	37	56866											
WDR90	197335	broad.mit.edu	37	chr16	715685	715685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggcttcccccaggtgaacGaggtggtcttcagccccggg	6	7	14	14	3	2	1	1	1	1	0	3	2	3	1	4	5	2	1	4	5	1	2	rs150784706	by1000genomes	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:715685G>A	ENST00000549091.1	+	35	4416	c.4324G>A	c.(4324-4326)Gag>Aag	p.E1442K	WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000547944.1_Missense_Mutation_p.E39K|WDR90_ENST00000315764.4_Missense_Mutation_p.E39K|WDR90_ENST00000293879.4_Missense_Mutation_p.E1440K	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1440										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCAGGTGAACGAGGTGGTCTT	0.647													5	66					0	0	0	0	A	715685	G	A	715685	3	1	318	1	0	0	0	0	1	0	0	0	17433	1059	37	1	4456	1	WDR90	16	715685	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08		715685	89639068	38	56867											
PTX4	390667	broad.mit.edu	37	chr16	1536086	1536086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccgggaaccagcgcccgatCccagatagccaagccagaca	12	2	10	17	3	0	2	0	0	0	2	1	4	1	3	6	1	4	0	6	1	3	1			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:1536086C>T	ENST00000447419.2	-	3	1316	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Missense_Mutation_p.D426N			Q96A99	PTX4_HUMAN	pentraxin 4, long	431	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AGCGCCCGATCCCAGATAGCC	0.642													12	62					0	0	0	0	T	1536086	C	T	1536086	3	4	318	1	0	0	0	0	1	0	0	0	12905	855	30	2	148	2	PTX4	16	1536086	Missense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08	820401	1536086	88818667	39	56868											
TRAP1	10131	broad.mit.edu	37	chr16	3726128	3726128	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaactcccgaagcttcggcGatttcaaacactccagaact	12	9	6	14	3	1	1	1	0	0	1	4	3	3	1	2	1	4	1	2	1	4	3			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:3726128G>A	ENST00000575671.1	-	2	825	c.96C>T	c.(94-96)atC>atT	p.I32I	TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000538171.1_Silent_p.I188I|TRAP1_ENST00000246957.5_Silent_p.I241I			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	241					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				AAGCTTCGGCGATTTCAAACA	0.557													18	54					0	0	0	0	A	3726128	G	A	3726128	2	1	318	1	0	0	0	0	0	0	0	1	16550	1048	37	1		1	TRAP1	16	3726128	Silent	SNP	G	TCGA-CV-7429-01A-11D-2129-08	2190042	3726128	86628625	40	56869											
CREBBP	1387	broad.mit.edu	37	chr16	3779591	3779591	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagggcgatgagctgcttGcacaccgggcagcccccgtt	7	6	14	14	3	0	2	0	1	0	1	0	3	0	2	3	2	4	5	3	2	0	2			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:3779591G>T	ENST00000262367.5	-	31	6266	c.5457C>A	c.(5455-5457)tgC>tgA	p.C1819*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.C1781*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1819	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAGCTGCTTGCACACCGGGC	0.607			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						31	97					1.39806e-14	1.73093e-14	1	0	T	3779591	G	T	3779591	4	4	318	1	0	0	0	0	0	1	0	0	3891	1311	46	4	1875	4	CREBBP	16	3779591	Nonsense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08	53463	3779591	86575162	41	56870											
HS3ST2	9956	broad.mit.edu	37	chr16	22926408	22926408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcggaaccctgtgacccGtgccatctctgattacacgc	7	10	10	14	3	1	2	0	2	1	0	2	3	1	3	3	1	4	0	3	1	2	1			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:22926408G>A	ENST00000261374.3	+	2	1063	c.629G>A	c.(628-630)cGt>cAt	p.R210H		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	210						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	p.R210H(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CCTGTGACCCGTGCCATCTCT	0.587													38	120					0	0	0	0	A	22926408	G	A	22926408	3	1	318	1	0	0	0	0	1	0	0	0	7414	1145	40	1	635	1	HS3ST2	16	22926408	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08	19146817	22926408	67428345	42	56871											
SF3B3	23450	broad.mit.edu	37	chr16	70602265	70602265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaagaaagtttcatctGggttcgctacaagcgtaatg	11	12	10	8	2	2	1	1	0	1	1	4	1	3	1	1	1	2	4	1	1	5	4			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:70602265G>C	ENST00000302516.5	+	22	3243	c.3032G>C	c.(3031-3033)tGg>tCg	p.W1011S		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1011					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTTTCATCTGGGTTCGCTAC	0.438													13	67					0	0	0	0	C	70602265	G	C	70602265	3	2	318	1	0	0	0	0	1	0	0	0	14239	1357	47	4	3114	4	SF3B3	16	70602265	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08	47675857	70602265	19752488	43	56872											
MYO1C	4641	broad.mit.edu	37	chr17	1375218	1375218	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctttgcaggaaagcttcGtatttgcggcgataggcaaa	11	10	11	9	3	0	0	0	0	0	0	1	2	0	1	1	3	3	4	1	3	4	5	rs78672478	byFrequency	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:1375218G>A	ENST00000359786.5	-	19	2328	c.2004C>T	c.(2002-2004)taC>taT	p.Y668Y	MYO1C_ENST00000438665.2_Silent_p.Y649Y|MYO1C_ENST00000545534.2_Silent_p.Y644Y|MYO1C_ENST00000361007.2_Silent_p.Y633Y|MYO1C_ENST00000575158.1_Silent_p.Y633Y	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	668	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGAAAGCTTCGTATTTGCGGC	0.632													6	121					0	0	0	0	A	1375218	G	A	1375218	2	1	318	1	0	0	0	0	0	0	0	1	10140	1140	40	1		1	MYO1C	17	1375218	Silent	SNP	G	TCGA-CV-7429-01A-11D-2129-08		1375218	79819992	44	56873											
TNFSF13	8741	broad.mit.edu	37	chr17	7462496	7462496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtggcttgtgccatggCtctgctgacccaacaaacag	8	8	12	13	1	1	1	0	1	1	0	1	1	1	1	3	3	4	3	3	3	2	1			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:7462496C>T	ENST00000349228.4	+	1	704	c.140C>T	c.(139-141)gCt>gTt	p.A47V	TNFSF13_ENST00000396545.4_Missense_Mutation_p.A47V|TNFSF13_ENST00000380535.4_Missense_Mutation_p.A47V|TNFSF12_ENST00000557233.1_Intron|TNFSF13_ENST00000483039.1_Intron|TNFSF13_ENST00000338784.4_Missense_Mutation_p.A47V|TNFSF13_ENST00000396542.1_Missense_Mutation_p.A30V|TNFSF12-TNFSF13_ENST00000293826.4_Intron	NM_172087.2	NP_742084.1			tumor necrosis factor (ligand) superfamily, member 13											large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				TGTGCCATGGCTCTGCTGACC	0.652													5	28					0	0	0	0	T	7462496	C	T	7462496	3	4	318	1	0	0	0	0	1	0	0	0	16399	797	28	4	142	4	TNFSF13	17	7462496	Missense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08	6087278	7462496	73732714	45	56874											
MYH4	4622	broad.mit.edu	37	chr17	10369674	10369674	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtcatcatggccatgtcctcGatcttgtcatatttgggagg	7	14	11	9	1	4	0	3	0	1	0	6	2	5	1	2	3	0	0	2	3	1	3			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:10369674G>C	ENST00000255381.2	-	4	374	c.264C>G	c.(262-264)atC>atG	p.I88M	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	88	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCATGTCCTCGATCTTGTCAT	0.438													30	103					0	0	0	0	C	10369674	G	C	10369674	3	2	318	1	0	0	0	0	1	0	0	0	10107	1048	37	3	5703	3	MYH4	17	10369674	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08	2907178	10369674	70825536	46	56875											
NUFIP2	57532	broad.mit.edu	37	chr17	27614070	27614071	+	Frame_Shift_Ins	INS	-	-	T																															ctttgggccgatcatcaaacINStttttgctgctcacaccagg																										TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:27614070_27614071insT	ENST00000225388.4	-	2	999_1000	c.941_942insA	c.(940-942)attfs	p.I314fs	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	314						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GATCATCAAACTTTTTGCTGCT	0.475													38	82	---	---	---	---					T	27614071	-	T	27614070	7	5	318	1	0	1	1	0	0	0	0	0	10820	564	20	0	1157	0	NUFIP2	17	27614070	Frame_Shift_Ins	INS	-	TCGA-CV-7429-01A-11D-2129-08	17244396	27614070	53581140	47	56876											
CSH2	1443	broad.mit.edu	37	chr17	61950577	61950577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatggccagctggtgcgcgcGatgggcttggagcatagcgt	7	8	17	9	4	0	0	0	0	0	0	0	2	0	1	1	4	4	3	1	4	2	2			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:61950577G>A	ENST00000336844.5	-	2	284	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	CSH2_ENST00000392886.2_Missense_Mutation_p.R45C|CSH2_ENST00000345366.7_Missense_Mutation_p.R45C|CSH2_ENST00000560142.1_Intron	NM_022644.3	NP_072170.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	45					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						TGGTGCGCGCGATGGGCTTGG	0.592													20	102					0	0	0	0	A	61950577	G	A	61950577	3	1	318	1	0	0	0	0	1	0	0	0	3973	1058	37	1	584	1	CSH2	17	61950577	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08	34336507	61950577	19244633	48	56877											
KCNJ2	3759	broad.mit.edu	37	chr17	68172221	68172221	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattccaggttccacaaaacTtacgaagtccccaacactcc	13	9	4	15	1	0	0	0	0	0	0	4	1	4	0	5	1	3	1	5	1	6	4			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:68172221T>G	ENST00000243457.3	+	2	1424	c.1041T>G	c.(1039-1041)acT>acG	p.T347T	KCNJ2_ENST00000535240.1_Silent_p.T347T	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	347					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TCCACAAAACTTACGAAGTCC	0.418													22	136					0	0	0	0	G	68172221	T	G	68172221	2	3	318	1	0	0	0	0	0	0	0	1	8104	1596	56	5		5	KCNJ2	17	68172221	Silent	SNP	T	TCGA-CV-7429-01A-11D-2129-08	6221644	68172221	13022989	49	56878											
POTEC	388468	broad.mit.edu	37	chr18	14543020	14543020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtctccagaagtgcccatGttgctcttgccgctcccctt	4	13	9	15	1	2	1	0	0	2	1	4	1	3	1	5	1	3	3	5	1	1	3			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr18:14543020G>T	ENST00000358970.5	-	1	125	c.126C>A	c.(124-126)aaC>aaA	p.N42K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	42										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTGCCCATGTTGCTCTTGC	0.587													11	193					2.48551e-13	2.93742e-13	1	0	T	14543020	G	T	14543020	3	4	318	1	0	0	0	0	1	0	0	0	12334	1368	48	4	1546	4	POTEC	18	14543020	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08		14543020	63534228	50	56879											
TJP3	27134	broad.mit.edu	37	chr19	3734415	3734415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcggagccccgaggccaGccagaccgactctcccgtgt	7	5	12	17	4	2	1	1	0	1	1	3	4	2	2	6	2	3	0	6	2	0	0			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:3734415G>T	ENST00000541714.2	+	8	1430	c.968G>T	c.(967-969)aGc>aTc	p.S323I	TJP3_ENST00000262968.9_Missense_Mutation_p.S356I|TJP3_ENST00000382008.3_Missense_Mutation_p.S337I|TJP3_ENST00000589378.1_Missense_Mutation_p.S332I|TJP3_ENST00000587686.1_Missense_Mutation_p.S342I|TJP3_ENST00000539908.2_Missense_Mutation_p.S287I	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	337						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGAGGCCAGCCAGACCGAC	0.657													5	29					3.59834e-05	3.8448e-05	1	0	T	3734415	G	T	3734415	3	4	318	1	0	0	0	0	1	0	0	0	16025	971	34	4	1093	4	TJP3	19	3734415	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08		3734415	55394568	51	56880											
CREB3L3	84699	broad.mit.edu	37	chr19	4171778	4171778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagtctccaggaagccccGgggcagactggggcttccag	9	5	15	12	1	1	2	0	0	1	2	3	3	2	3	4	5	1	2	4	5	2	1			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:4171778G>A	ENST00000078445.2	+	10	1345	c.1198G>A	c.(1198-1200)Ggg>Agg	p.G400R	CREB3L3_ENST00000602257.1_Missense_Mutation_p.G398R|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000595923.1_Missense_Mutation_p.G399R|CREB3L3_ENST00000252587.3_Silent_p.P288P	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	400					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAAGCCCCGGGGCAGACTG	0.667													29	83					0	0	0	0	A	4171778	G	A	4171778	3	1	318	1	0	0	0	0	1	0	0	0	3888	1116	39	1	1236	1	CREB3L3	19	4171778	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08	437363	4171778	54957205	52	56881											
U2AF1L4	199746	broad.mit.edu	37	chr19	36233655	36233655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagtgatcaggggaacaccGatggttcctctctcggggat	8	9	13	11	2	2	1	1	1	1	0	5	4	3	3	3	5	1	1	3	5	1	1			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:36233655G>A	ENST00000412391.2	-	8	641	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	AD000671.6_ENST00000589807.1_Intron|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.R171W|U2AF1L4_ENST00000292879.5_Silent_p.I151I			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	210					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGAACACCGATGGTTCCTC	0.597													32	133					0	0	0	0	A	36233655	G	A	36233655	3	1	318	1	0	0	0	0	1	0	0	0	16918	1057	37	1	159	1	U2AF1L4	19	36233655	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08	32061877	36233655	22895328	53	56882											
ITPKC	80271	broad.mit.edu	37	chr19	41239201	41239201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcagtcaccaagcccCgctacatgcagtggagggaa	11	5	14	11	1	1	0	1	0	0	0	1	2	1	2	3	3	4	3	3	3	3	1			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:41239201C>T	ENST00000263370.2	+	4	1639	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	536	Substrate binding.					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CACCAAGCCCCGCTACATGCA	0.642													4	15					0	0	0	0	T	41239201	C	T	41239201	3	4	318	1	0	0	0	0	1	0	0	0	7972	652	23	1	1620	1	ITPKC	19	41239201	Missense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08	5005546	41239201	17889782	54	56883											
ZFP64	55734	broad.mit.edu	37	chr20	50803572	50803572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccgcagatatggatgtCgggagtcagctccaccagca	10	7	13	11	2	1	1	1	0	0	1	3	4	2	3	3	2	3	3	3	2	1	1			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr20:50803572C>A	ENST00000216923.4	-	2	434	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	ZFP64_ENST00000371518.2_Missense_Mutation_p.D29Y|ZFP64_ENST00000361387.2_Missense_Mutation_p.D29Y|ZFP64_ENST00000371515.4_Missense_Mutation_p.D27Y|ZFP64_ENST00000346617.4_Missense_Mutation_p.D29Y	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						ATATGGATGTCGGGAGTCAGC	0.512													8	31					5.4927e-09	6.20914e-09	1	0	A	50803572	C	A	50803572	3	1	318	1	0	0	0	0	1	0	0	0	17747	884	31	3	3171	3	ZFP64	20	50803572	Missense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08		50803572	12221948	55	56884											
COL6A1	1291	broad.mit.edu	37	chr21	47412128	47412128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaggagaggcgggcgaCgaggtgagtgagggctcctg	10	4	21	6	3	0	4	0	2	0	2	1	8	1	4	1	5	0	1	1	5	1	0	rs140478280		TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr21:47412128C>T	ENST00000361866.3	+	17	1347	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	411	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	p.D411D(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGCGGGCGACGAGGTGAGTG	0.627													7	32					0	0	0	0	T	47412128	C	T	47412128	2	4	318	1	0	0	0	0	0	0	0	1	3729	535	19	1		1	COL6A1	21	47412128	Silent	SNP	C	TCGA-CV-7429-01A-11D-2129-08		47412128	717767	56	56885											
SMC1A	8243	broad.mit.edu	37	chrX	53432540	53432540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatatgaggtggctcatagCgaatcacatcaatcactagc	13	10	9	9	1	4	2	4	2	0	0	4	3	4	2	0	2	2	1	0	2	5	3			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chrX:53432540C>T	ENST00000322213.4	-	11	1923	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	SMC1A_ENST00000375340.6_Missense_Mutation_p.R365H	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	599	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TGGCTCATAGCGAATCACATC	0.532													32	14					0	0	0	0	T	53432540	C	T	53432540	3	4	318	1	0	0	0	0	1	0	0	0	14869	768	27	1	1965	1	SMC1A	23	53432540	Missense_Mutation	SNP	C	TCGA-CV-7429-01A-11D-2129-08		53432540	101838020	57	56886											
WDR44	54521	broad.mit.edu	37	chrX	117578415	117578415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaaaaatcagaagggaacGagaaaagtgaagatgctgaa	20	5	12	4	1	1	6	1	3	0	3	1	8	1	7	0	1	2	1	0	1	8	0			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chrX:117578415G>A	ENST00000254029.3	+	19	3000	c.2605G>A	c.(2605-2607)Gag>Aag	p.E869K	WDR44_ENST00000371825.3_Missense_Mutation_p.E861K|WDR44_ENST00000371822.5_Missense_Mutation_p.E780K	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	869						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGAAGGGAACGAGAAAAGTGA	0.393													42	41					0	0	0	0	A	117578415	G	A	117578415	3	1	318	1	0	0	0	0	1	0	0	0	17392	1059	37	1	2679	1	WDR44	23	117578415	Missense_Mutation	SNP	G	TCGA-CV-7429-01A-11D-2129-08	64145875	117578415	37692145	58	56887											
CROCC	9696	broad.mit.edu	37	chr1	17256382	17256382	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcctggggagctggagacGcaggagcccagggggctggt	7	4	21	9	1	0	1	0	0	0	1	0	5	0	3	2	7	3	3	2	7	0	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:17256382G>T	ENST00000375541.5	+	4	462	c.393G>T	c.(391-393)acG>acT	p.T131T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	131					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCTGGAGACGCAGGAGCCCA	0.697													2	2					0.115264	0.115264	1	0	T	17256382	G	T	17256382	2	4	319	1	0	0	0	0	0	0	0	1	3923	1074	38	3		3	CROCC	1	17256382	Silent	SNP	G	TCGA-CV-7430-01A-11D-2129-08		17256382	231994239	1	56888											
PAFAH2	5051	broad.mit.edu	37	chr1	26301058	26301058	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtctggaatttctcagtaTtgataaagaacacaggtcct	12	14	8	7	0	2	2	1	1	2	1	4	3	3	3	1	2	1	1	1	2	5	5			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:26301058T>G	ENST00000374282.3	-	9	1021	c.842A>C	c.(841-843)aAt>aCt	p.N281T	PAFAH2_ENST00000374284.1_Missense_Mutation_p.N281T	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	281					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTCAGTATTGATAAAGAA	0.468													24	28					0	0	0	0	G	26301058	T	G	26301058	3	3	319	1	0	0	0	0	1	0	0	0	11458	1493	52	5	348	5	PAFAH2	1	26301058	Missense_Mutation	SNP	T	TCGA-CV-7430-01A-11D-2129-08	9044676	26301058	222949563	2	56889											
ARID1A	8289	broad.mit.edu	37	chr1	27089635	27089635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgagtcacgcctccatggGcaaccggccttatggcccta	8	8	11	14	2	1	1	1	1	0	0	2	2	2	1	5	3	1	1	5	3	3	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:27089635G>T	ENST00000324856.7	+	8	2962	c.2591G>T	c.(2590-2592)gGc>gTc	p.G864V	ARID1A_ENST00000457599.2_Missense_Mutation_p.G864V|ARID1A_ENST00000374152.2_Missense_Mutation_p.G481V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	864					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTCCATGGGCAACCGGCCT	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								15	15					1.5739e-10	1.70851e-10	1	0	T	27089635	G	T	27089635	3	4	319	1	0	0	0	0	1	0	0	0	915	1203	42	4	2621	4	ARID1A	1	27089635	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	788577	27089635	222160986	3	56890											
CLCA2	9635	broad.mit.edu	37	chr1	86913313	86913313	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgtggaagcctttgtggaAagagacagcctccattttcc	10	11	10	10	0	0	1	0	0	0	1	2	4	2	3	4	2	2	0	4	2	2	3			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:86913313A>G	ENST00000370565.4	+	11	1998	c.1836A>G	c.(1834-1836)gaA>gaG	p.E612E		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	612					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCTTTGTGGAAAGAGACAGCC	0.493													63	105					0	0	0	0	G	86913313	A	G	86913313	2	3	319	1	0	0	0	0	0	0	0	1	3488	11	1	5		5	CLCA2	1	86913313	Silent	SNP	A	TCGA-CV-7430-01A-11D-2129-08	59823678	86913313	162337308	4	56891											
BARHL2	343472	broad.mit.edu	37	chr1	91178026	91178026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtacatgctgctgtacatgGcagcggcagccgccgccgcc	6	6	14	15	4	0	0	0	0	0	0	0	0	0	0	4	3	6	6	4	3	2	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:91178026G>A	ENST00000370445.4	-	3	1048	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	336						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GCTGTACATGGCAGCGGCAGC	0.647													7	15					0	0	0	0	A	91178026	G	A	91178026	3	1	319	1	0	0	0	0	1	0	0	0	1318	1203	42	4	160	4	BARHL2	1	91178026	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	4264713	91178026	158072595	5	56892											
AGL	178	broad.mit.edu	37	chr1	100358058	100358058	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaactgtgtggagtaggaAaattcccttccctgccaatt	10	13	8	10	0	1	0	1	0	0	0	3	2	3	2	3	2	2	1	3	2	5	5			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:100358058A>G	ENST00000294724.4	+	24	3632	c.3154A>G	c.(3154-3156)Aaa>Gaa	p.K1052E	AGL_ENST00000361915.3_Missense_Mutation_p.K1052E|AGL_ENST00000370165.3_Missense_Mutation_p.K1052E|AGL_ENST00000370163.3_Missense_Mutation_p.K1052E|AGL_ENST00000361302.3_Missense_Mutation_p.K1036E|AGL_ENST00000370161.2_Missense_Mutation_p.K1036E|AGL_ENST00000361522.4_Missense_Mutation_p.K1035E	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1052					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGAGTAGGAAAATTCCCTTC	0.378													55	54					0	0	0	0	G	100358058	A	G	100358058	3	3	319	1	0	0	0	0	1	0	0	0	384	15	1	5	3313	5	AGL	1	100358058	Missense_Mutation	SNP	A	TCGA-CV-7430-01A-11D-2129-08	9180032	100358058	148892563	6	56893											
LINGO4	339398	broad.mit.edu	37	chr1	151774779	151774779	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcggaggtccagcagggtCagagcagagaggcctgagaa	12	3	18	8	1	1	3	1	1	0	3	2	6	2	4	2	5	2	2	2	5	1	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:151774779C>T	ENST00000368820.3	-	2	1339	c.402G>A	c.(400-402)ctG>ctA	p.L134L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	134						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGCAGGGTCAGAGCAGAGA	0.597													82	89					0	0	0	0	T	151774779	C	T	151774779	2	4	319	1	0	0	0	0	0	0	0	1	8872	813	29	2		2	LINGO4	1	151774779	Silent	SNP	C	TCGA-CV-7430-01A-11D-2129-08	51416721	151774779	97475842	7	56894											
PMVK	10654	broad.mit.edu	37	chr1	154898884	154898884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccaacgctacaacgcGgaccgtctgcgtcacggccc	7	6	10	18	6	2	0	1	0	1	0	3	1	3	1	3	2	5	2	3	2	3	1	rs150445298		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:154898884G>A	ENST00000368467.3	-	4	693	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	130					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTACAACGCGGACCGTCTGC	0.622													4	62					0	0	0	0	A	154898884	G	A	154898884	3	1	319	1	0	0	0	0	1	0	0	0	12216	1116	39	1	198	1	PMVK	1	154898884	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	3124105	154898884	94351737	8	56895											
CD1A	909	broad.mit.edu	37	chr1	158226702	158226702	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcggggtgagcaggagcAgcagggcactcagcgagggg	9	3	21	8	2	1	1	1	1	0	0	1	4	1	2	0	6	5	4	0	6	0	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:158226702A>T	ENST00000289429.5	+	4	1264	c.731A>T	c.(730-732)cAg>cTg	p.Q244L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	244	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GAGCAGGAGCAGCAGGGCACT	0.642													32	83					0	0	0	0	T	158226702	A	T	158226702	3	4	319	1	0	0	0	0	1	0	0	0	3003	188	7	5	745	5	CD1A	1	158226702	Missense_Mutation	SNP	A	TCGA-CV-7430-01A-11D-2129-08	3327818	158226702	91023919	9	56896											
KCNJ9	3765	broad.mit.edu	37	chr1	160054148	160054148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcaacggcttcgtggccGccttcctcttctccatcgag	5	11	8	17	4	3	0	1	0	2	0	7	1	4	0	5	2	1	1	5	2	1	3			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:160054148G>C	ENST00000368088.3	+	2	570	c.328G>C	c.(328-330)Gcc>Ccc	p.A110P		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	110					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCGTGGCCGCCTTCCTCTT	0.677													15	36					0	0	0	0	C	160054148	G	C	160054148	3	2	319	1	0	0	0	0	1	0	0	0	8110	1087	38	3	330	3	KCNJ9	1	160054148	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	1827446	160054148	89196473	10	56897											
RYR2	6262	broad.mit.edu	37	chr1	237949308	237949308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaaaggaagaaaaagaaGaaaccaaatctgaacctgaa	25	3	8	5	0	1	6	0	2	1	4	1	7	1	7	2	1	2	0	2	1	11	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:237949308G>C	ENST00000366574.2	+	91	13617	c.13300G>C	c.(13300-13302)Gaa>Caa	p.E4434Q	RYR2_ENST00000360064.6_Missense_Mutation_p.E4440Q|RYR2_ENST00000542537.1_Missense_Mutation_p.E4418Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4434	Glu-rich (acidic).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			agaaaaagaagaaACCAAATC	0.358													5	6					0	0	0	0	C	237949308	G	C	237949308	3	2	319	1	0	0	0	0	1	0	0	0	13854	943	33	2	13662	2	RYR2	1	237949308	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	77895160	237949308	11301313	11	56898											
OR2T12	127064	broad.mit.edu	37	chr1	248458473	248458473	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcatcctcaggcacagctgCcagctcatgagagtgggata	10	8	12	11	0	3	1	3	1	0	1	4	3	4	2	2	2	3	3	2	2	1	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:248458473C>T	ENST00000317996.1	-	1	407	c.408G>A	c.(406-408)tgG>tgA	p.W136*		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGCACAGCTGCCAGCTCATGA	0.607													25	31					0	0	0	0	T	248458473	C	T	248458473	4	4	319	1	0	0	0	0	0	1	0	0	11090	740	26	4	557	4	OR2T12	1	248458473	Nonsense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	10509165	248458473	792148	12	56899											
MYT1L	23040	broad.mit.edu	37	chr2	1843127	1843127	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtggccctggccgtcgcaCccggggaccggacacctgta	6	6	14	15	4	0	0	0	0	0	0	1	2	0	2	5	5	0	2	5	5	1	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:1843127C>A	ENST00000399161.2	-	21	3621	c.2874G>T	c.(2872-2874)ggG>ggT	p.G958G	MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000428368.2_Silent_p.G956G|MYT1L_ENST00000407844.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	958					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGCCGTCGCACCCGGGGACCG	0.617													30	53					2.68265e-12	2.95092e-12	1	0	A	1843127	C	A	1843127	2	1	319	1	0	0	0	0	0	0	0	1	10177	494	18	4		4	MYT1L	2	1843127	Silent	SNP	C	TCGA-CV-7430-01A-11D-2129-08		1843127	241356246	13	56900											
AGBL5	60509	broad.mit.edu	37	chr2	27276859	27276859	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctaccccttctcctaCagtgactgccaggaactgct	7	12	7	15	0	2	1	0	1	2	0	3	2	2	2	4	1	6	2	4	1	3	4			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:27276859C>A	ENST00000360131.4	+	4	642	c.483C>A	c.(481-483)taC>taA	p.Y161*	AGBL5_ENST00000323064.8_Nonsense_Mutation_p.Y161*|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	161					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTCTCCTACAGTGACTGCC	0.552													87	138					1.02218e-41	1.19617e-41	1	0	A	27276859	C	A	27276859	4	1	319	1	0	0	0	0	0	1	0	0	378	489	17	4	493	4	AGBL5	2	27276859	Nonsense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	25433732	27276859	215922514	14	56901											
LTBP1	4052	broad.mit.edu	37	chr2	33614263	33614282	+	Frame_Shift_Del	DEL	AGCTGTGTAACATCCCCGTG	AGCTGTGTAACATCCCCGTG	-																															ctccttagatgactatgctcAgctgtgtaacatccccgtga																								rs146752637		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:33614263_33614282delAGCTGTGTAACATCCCCGTG	ENST00000404816.2	+	32	5077_5096	c.4724_4743delAGCTGTGTAACATCCCCGTG	c.(4723-4743)cfs	p.QLCNIPV1575fs	LTBP1_ENST00000354476.3_Frame_Shift_Del_p.QLCNIPV1576fs|LTBP1_ENST00000272273.5_Frame_Shift_Del_p.QLCNIPV473fs|LTBP1_ENST00000390003.4_Frame_Shift_Del_p.QLCNIPV1250fs|LTBP1_ENST00000407925.1_Frame_Shift_Del_p.QLCNIPV1249fs|LTBP1_ENST00000418533.2_Frame_Shift_Del_p.QLCNIPV1207fs|LTBP1_ENST00000402934.1_Frame_Shift_Del_p.QLCNIPV1194fs|LTBP1_ENST00000404525.1_Frame_Shift_Del_p.QLCNIPV1196fs			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1575	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GACTATGCTCAGCTGTGTAACATCCCCGTGACGGGACGCC	0.564													23	102	---	---	---	---					-	33614282	AGCTGTGTAACATCCCCGTG	-	33614263	7	5	319	1	0	1	0	1	0	0	0	0	9137	188	7	0	4905	0	LTBP1	2	33614263	Frame_Shift_Del	DEL	AGCTGTGTAACATCCCCGTG	TCGA-CV-7430-01A-11D-2129-08	6337404	33614263	209585110	15	56902											
APLF	200558	broad.mit.edu	37	chr2	68772422	68772422	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgatgaccggcctgaatgtCcctatggaccatcctgttat	8	12	9	12	1	0	3	0	3	0	0	2	4	2	4	5	2	0	1	5	2	3	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:68772422C>G	ENST00000303795.4	+	8	1435	c.1264C>G	c.(1264-1266)Ccc>Gcc	p.P422A	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	422					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GCCTGAATGTCCCTATGGACC	0.423													38	95					0	0	0	0	G	68772422	C	G	68772422	3	3	319	1	0	0	0	0	1	0	0	0	777	855	30	2	1294	2	APLF	2	68772422	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	35158159	68772422	174426951	16	56903											
FER1L5	90342	broad.mit.edu	37	chr2	97361486	97361486	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggattgcagctcatgcCgacggaggaggcctatgcac	8	7	14	12	3	1	0	1	0	0	0	2	4	1	3	2	4	4	3	2	4	1	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:97361486C>T	ENST00000457909.1	+	0	3405							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CAGCTCATGCCGACGGAGGAG	0.642													7	14					0	0	0	0	T	97361486	C	T	97361486	1	4	319	0	1	0	0	0	0	0	0	0	5859	652	23	1		1	FER1L5	2	97361486	RNA	SNP	C	TCGA-CV-7430-01A-11D-2129-08	28589064	97361486	145837887	17	56904											
SAP130	79595	broad.mit.edu	37	chr2	128775458	128775458	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatgtgctccctggcactGacttcagaatctcgaccaga	9	10	8	14	1	3	3	2	1	1	2	5	4	4	3	2	1	1	2	2	1	1	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:128775458G>A	ENST00000357702.5	-	3	353	c.222C>T	c.(220-222)gtC>gtT	p.V74V	SAP130_ENST00000259234.6_Silent_p.V48V|SAP130_ENST00000259235.3_Silent_p.V74V	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	74					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCCTGGCACTGACTTCAGAAT	0.498													31	52					0	0	0	0	A	128775458	G	A	128775458	2	1	319	1	0	0	0	0	0	0	0	1	13916	1277	45	2		2	SAP130	2	128775458	Silent	SNP	G	TCGA-CV-7430-01A-11D-2129-08	31413972	128775458	114423915	18	56905											
TTN	7273	broad.mit.edu	37	chr2	179484368	179484368	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgccagttcaagcttagctCtggcttctttgtctttggca	5	16	9	11	0	4	0	1	0	3	0	4	0	4	0	1	2	3	5	1	2	2	5			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:179484368C>G	ENST00000589042.1	-	250	46900	c.46676G>C	c.(46675-46677)aGa>aCa	p.R15559T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6686T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6619T|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R13918T|TTN_ENST00000460472.2_Missense_Mutation_p.R6494T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12991T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13918	Fibronectin type-III 13.						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)			AAGCTTAGCTCTGGCTTCTTT	0.373													43	75					0	0	0	0	G	179484368	C	G	179484368	3	3	319	1	0	0	0	0	1	0	0	0	16831	913	32	2	61469	2	TTN	2	179484368	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	50708910	179484368	63715005	19	56906											
NT5DC2	64943	broad.mit.edu	37	chr3	52562303	52562303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccggtagcgagaagatgtCcatgaactgcttaatggagg	11	9	13	8	2	0	3	0	1	0	2	2	5	2	4	2	3	3	2	2	3	4	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:52562303C>T	ENST00000307076.4	-	6	956	c.556G>A	c.(556-558)Gac>Aac	p.D186N	NT5DC2_ENST00000307092.4_Missense_Mutation_p.D127N|NT5DC2_ENST00000459839.1_Missense_Mutation_p.D198N|NT5DC2_ENST00000422318.2_Missense_Mutation_p.D223N	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	186							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAGAAGATGTCCATGAACTGC	0.572													4	55					0	0	0	0	T	52562303	C	T	52562303	3	4	319	1	0	0	0	0	1	0	0	0	10762	855	30	2	1042	2	NT5DC2	3	52562303	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08		52562303	145460127	20	56907											
CLDND1	56650	broad.mit.edu	37	chr3	98240121	98240121	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaatgaattcatcccagaTgcttttattcaaatcactgg	13	14	5	9	0	3	2	3	1	0	1	4	2	4	2	1	1	1	1	1	1	4	5			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:98240121T>A	ENST00000503004.1	-	2	1027	c.148A>T	c.(148-150)Atc>Ttc	p.I50F	CLDND1_ENST00000394181.2_Missense_Mutation_p.I50F|CLDND1_ENST00000394185.2_Missense_Mutation_p.I50F|CLDND1_ENST00000513287.1_Missense_Mutation_p.I50F|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000510545.1_Missense_Mutation_p.I50F|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000341181.6_Missense_Mutation_p.I50F|CLDND1_ENST00000507874.1_Missense_Mutation_p.I50F|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.I73F|CLDND1_ENST00000394180.2_Missense_Mutation_p.I50F			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	50						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TCATCCCAGATGCTTTTATTC	0.413													33	63					0	0	0	0	A	98240121	T	A	98240121	3	1	319	1	0	0	0	0	1	0	0	0	3523	1464	51	5	629	5	CLDND1	3	98240121	Missense_Mutation	SNP	T	TCGA-CV-7430-01A-11D-2129-08	45677818	98240121	99782309	21	56908											
MORC1	27136	broad.mit.edu	37	chr3	108773582	108773582	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgaatactcactgatgccGgtgtccttacagtactggac	10	12	9	10	1	1	2	1	2	0	0	2	3	2	3	2	2	4	1	2	2	4	4			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:108773582G>T	ENST00000232603.5	-	14	1405	c.1323C>A	c.(1321-1323)acC>acA	p.T441T	MORC1_ENST00000483760.1_Silent_p.T441T	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	441					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACTGATGCCGGTGTCCTTAC	0.373													43	118					7.05121e-23	8.13601e-23	1	0	T	108773582	G	T	108773582	2	4	319	1	0	0	0	0	0	0	0	1	9771	1103	39	3		3	MORC1	3	108773582	Silent	SNP	G	TCGA-CV-7430-01A-11D-2129-08	10533461	108773582	89248848	22	56909											
ALDH1L1	10840	broad.mit.edu	37	chr3	125856801	125856801	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttcacttcctccaccAgcctggaggaaggagatgga	9	8	11	13	0	1	1	1	0	0	1	4	5	4	4	5	4	1	1	5	4	1	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:125856801A>T	ENST00000393434.2	-	10	1428	c.1079T>A	c.(1078-1080)cTg>cAg	p.L360Q	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L259Q|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L370Q	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	360	Acyl carrier.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCCTCCACCAGCCTGGAGGA	0.567													34	24					0	0	0	0	T	125856801	A	T	125856801	3	4	319	1	0	0	0	0	1	0	0	0	494	188	7	5	1685	5	ALDH1L1	3	125856801	Missense_Mutation	SNP	A	TCGA-CV-7430-01A-11D-2129-08	17083219	125856801	72165629	23	56910											
SI	6476	broad.mit.edu	37	chr3	164739124	164739124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttattggggtggttggaatGtttaacggtactggtacttc	7	16	13	5	1	0	0	0	0	0	0	1	1	0	1	0	6	3	4	0	6	5	8			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:164739124G>T	ENST00000264382.3	-	27	3209	c.3147C>A	c.(3145-3147)aaC>aaA	p.N1049K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1049	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGGTTGGAATGTTTAACGGTA	0.368										HNSCC(35;0.089)			402	263					3.03833e-170	3.58088e-170	1	0	T	164739124	G	T	164739124	3	4	319	1	0	0	0	0	1	0	0	0	14385	1368	48	4	2424	4	SI	3	164739124	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	38882323	164739124	33283306	24	56911											
SERPINI1	5274	broad.mit.edu	37	chr3	167525052	167525052	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcacagtggaacaggaaaTtgatttaaaagatgttttga	15	13	10	3	0	1	3	1	2	0	1	1	5	1	5	0	2	1	2	0	2	4	6			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:167525052T>A	ENST00000295777.5	+	6	1333	c.902T>A	c.(901-903)aTt>aAt	p.I301N	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Missense_Mutation_p.I301N	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	301					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GAACAGGAAATTGATTTAAAA	0.338													68	221					0	0	0	0	A	167525052	T	A	167525052	3	1	319	1	0	0	0	0	1	0	0	0	14205	1493	52	5	920	5	SERPINI1	3	167525052	Missense_Mutation	SNP	T	TCGA-CV-7430-01A-11D-2129-08	2785928	167525052	30497378	25	56912											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540249	169540249	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgaaaccagtttgaagttttCccccaggagctctgtgttct	8	13	9	11	1	2	1	0	1	2	0	3	3	3	2	3	1	2	4	3	1	2	4			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:169540249C>T	ENST00000340806.6	+	1	540	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	180										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGAAGTTTTCCCCCAGGAGC	0.517													48	252					0	0	0	0	T	169540249	C	T	169540249	2	4	319	1	0	0	0	0	0	0	0	1	9095	854	30	2		2	LRRIQ4	3	169540249	Silent	SNP	C	TCGA-CV-7430-01A-11D-2129-08	2015197	169540249	28482181	26	56913											
SKIL	6498	broad.mit.edu	37	chr3	170102443	170102443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catatcaagacagtcagagaAggctcacagtagtggtaaac	16	7	10	8	0	3	2	3	0	0	2	3	3	3	2	0	2	1	3	0	2	6	3			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:170102443A>G	ENST00000458537.3	+	3	2028	c.1319A>G	c.(1318-1320)aAg>aGg	p.K440R	SKIL_ENST00000426052.2_Missense_Mutation_p.K420R|SKIL_ENST00000259119.4_Missense_Mutation_p.K440R|SKIL_ENST00000413427.2_Intron	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	440					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAGTCAGAGAAGGCTCACAGT	0.398													52	426					0	0	0	0	G	170102443	A	G	170102443	3	3	319	1	0	0	0	0	1	0	0	0	14446	72	3	5	1329	5	SKIL	3	170102443	Missense_Mutation	SNP	A	TCGA-CV-7430-01A-11D-2129-08	562194	170102443	27919987	27	56914											
PEX5L	51555	broad.mit.edu	37	chr3	179592166	179592166	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgactcagagttgagggcGctttttccaccactcagttc	7	11	10	13	2	2	2	2	1	0	1	4	3	3	2	3	1	0	3	3	1	0	4	rs139208096		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:179592166G>C	ENST00000467460.1	-	7	1005	c.675C>G	c.(673-675)agC>agG	p.S225R	PEX5L_ENST00000464614.1_Missense_Mutation_p.S117R|PEX5L_ENST00000392649.3_Missense_Mutation_p.S117R|PEX5L_ENST00000485199.1_Missense_Mutation_p.S190R|PEX5L_ENST00000476138.1_Missense_Mutation_p.S182R|PEX5L_ENST00000472994.1_Missense_Mutation_p.S166R|PEX5L_ENST00000468741.1_Missense_Mutation_p.S33R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.S201R|PEX5L_ENST00000263962.8_Missense_Mutation_p.S223R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	225					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AGTTGAGGGCGCTTTTTCCAC	0.393													43	165					0	0	0	0	C	179592166	G	C	179592166	3	2	319	1	0	0	0	0	1	0	0	0	11821	1078	38	3	1241	3	PEX5L	3	179592166	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	9489723	179592166	18430264	28	56915											
CCDC39	339829	broad.mit.edu	37	chr3	180397180	180397180	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctactcatgactgcaaacgGatagagaagatacagagcaa	17	6	10	8	1	1	4	1	1	0	3	1	6	1	5	0	1	5	3	0	1	6	3			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:180397180G>C	ENST00000442201.2	-	0	108				CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39						axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACTGCAAACGGATAGAGAAGA	0.582													45	450					0	0	0	0	C	180397180	G	C	180397180	1	2	319	1	0	0	0	0	0	0	0	0	2837	1189	41	2		2	CCDC39	3	180397180	Translation_Start_Site	SNP	G	TCGA-CV-7430-01A-11D-2129-08	805014	180397180	17625250	29	56916											
IQCG	84223	broad.mit.edu	37	chr3	197619560	197619560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtggctttgagagcatttAgttcattctgtttcatttct	6	21	8	6	0	4	1	2	1	2	1	4	2	4	1	0	1	1	4	0	1	1	8			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:197619560A>G	ENST00000265239.6	-	10	1458	c.1034T>C	c.(1033-1035)cTa>cCa	p.L345P	IQCG_ENST00000455191.1_Missense_Mutation_p.L345P	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	345										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GAGAGCATTTAGTTCATTCTG	0.438													104	633					0	0	0	0	G	197619560	A	G	197619560	3	3	319	1	0	0	0	0	1	0	0	0	7863	420	15	5	309	5	IQCG	3	197619560	Missense_Mutation	SNP	A	TCGA-CV-7430-01A-11D-2129-08	17222380	197619560	402870	30	56917											
CRIPAK	285464	broad.mit.edu	37	chr4	1388818	1388818	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgctcacacgtgcccAtgtggagtgcccgcctgctc	4	8	11	18	3	1	0	1	0	0	0	2	1	1	1	5	1	4	2	5	1	0	0	rs71299249	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:1388818A>T	ENST00000324803.4	+	1	3479	c.519A>T	c.(517-519)ccA>ccT	p.P173P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	173					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ACACGTGCCCATGTGGAGTGC	0.682													4	14					0	0	0	0	T	1388818	A	T	1388818	2	4	319	1	0	0	0	0	0	0	0	1	3907	204	8	5		5	CRIPAK	4	1388818	Silent	SNP	A	TCGA-CV-7430-01A-11D-2129-08		1388818	189765458	31	56918											
UGT2B7	7364	broad.mit.edu	37	chr4	69962284	69962290	+	Frame_Shift_Del	DEL	TTTTGCT	TTTTGCT	-																															ttttgctaatacaactgagcTtttgctttagctctgggaat																										TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:69962284_69962290delTTTTGCT	ENST00000305231.7	+	1	92_98	c.46_52delTTTTGCT	c.(46-54)ttfs	p.FCF16fs	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Frame_Shift_Del_p.FCF16fs	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	16					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAACTGAGCTTTTGCTTTAGCTCTGG	0.42													105	196	---	---	---	---					-	69962290	TTTTGCT	-	69962284	7	5	319	1	0	1	0	1	0	0	0	0	17058	1609	56	0	48	0	UGT2B7	4	69962284	Frame_Shift_Del	DEL	TTTTGCT	TCGA-CV-7430-01A-11D-2129-08	68573466	69962284	121191992	32	56919											
ANK2	287	broad.mit.edu	37	chr4	114277023	114277023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttgcactccctagccgaGatagcgaagtcctcagcgct	10	8	9	14	3	1	1	1	0	0	1	3	3	3	1	3	0	5	2	3	0	4	3			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:114277023G>A	ENST00000357077.4	+	38	7302	c.7249G>A	c.(7249-7251)Gat>Aat	p.D2417N	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2384N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2384					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCTAGCCGAGATAGCGAAGT	0.498													26	17					0	0	0	0	A	114277023	G	A	114277023	3	1	319	1	0	0	0	0	1	0	0	0	621	942	33	2	7464	2	ANK2	4	114277023	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	44314739	114277023	76877253	33	56920											
TIGD4	201798	broad.mit.edu	37	chr4	153691671	153691671	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaggaagtacattttggtaCcagacagtcgaagggtctac	13	10	11	7	1	1	1	0	0	1	1	2	3	1	2	1	3	3	2	1	3	6	6			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:153691671C>T	ENST00000304337.2	-	2	1306	c.486G>A	c.(484-486)tgG>tgA	p.W162*		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	162					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CATTTTGGTACCAGACAGTCG	0.363													35	30					0	0	0	0	T	153691671	C	T	153691671	4	4	319	1	0	0	0	0	0	1	0	0	15992	508	18	4	1056	4	TIGD4	4	153691671	Nonsense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	39414648	153691671	37462605	34	56921											
TKTL2	84076	broad.mit.edu	37	chr4	164393621	164393621	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcttctccagtggatacCccacagtgggaaccaataag	12	8	8	13	0	2	0	0	0	2	0	3	2	2	2	5	2	2	0	5	2	4	3			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:164393621C>G	ENST00000280605.3	-	1	1426	c.1266G>C	c.(1264-1266)ggG>ggC	p.G422G		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	422						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGTGGATACCCCACAGTGGG	0.478													36	21					0	0	0	0	G	164393621	C	G	164393621	2	3	319	1	0	0	0	0	0	0	0	1	16030	610	22	4		4	TKTL2	4	164393621	Silent	SNP	C	TCGA-CV-7430-01A-11D-2129-08	10701950	164393621	26760655	35	56922											
SEMA5A	9037	broad.mit.edu	37	chr5	9202097	9202097	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagatgccatagatcaaaTccagctcaggcaggaagaaa	18	6	9	8	0	2	3	2	0	0	3	3	4	3	4	2	2	2	2	2	2	6	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:9202097T>C	ENST00000382496.5	-	9	1567	c.902A>G	c.(901-903)gAt>gGt	p.D301G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	301	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATAGATCAAATCCAGCTCAGG	0.438													34	43					0	0	0	0	C	9202097	T	C	9202097	3	2	319	1	0	0	0	0	1	0	0	0	14124	1435	50	5	2382	5	SEMA5A	5	9202097	Missense_Mutation	SNP	T	TCGA-CV-7430-01A-11D-2129-08		9202097	171713163	36	56923											
DNAH5	1767	broad.mit.edu	37	chr5	13876803	13876803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgacatacctttttggtgGagttgataattgtgctaagc	9	16	10	6	0	0	2	0	2	0	0	0	3	0	3	1	2	3	2	1	2	3	8			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:13876803G>T	ENST00000265104.4	-	22	3490	c.3386C>A	c.(3385-3387)tCc>tAc	p.S1129Y	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1129	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTTTGGTGGAGTTGATAAT	0.383									Kartagener syndrome				38	66					1.57019e-19	1.78677e-19	1	0	T	13876803	G	T	13876803	3	4	319	1	0	0	0	0	1	0	0	0	4641	1174	41	2	10720	2	DNAH5	5	13876803	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	4674706	13876803	167038457	37	56924											
PDZD2	23037	broad.mit.edu	37	chr5	32088330	32088330	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacaaggaagatccttcGgagtcagaagaggaacagat	15	7	12	7	1	1	4	1	0	0	4	3	7	2	7	1	3	2	1	1	3	4	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:32088330G>T	ENST00000438447.1	+	20	5164	c.4776G>T	c.(4774-4776)tcG>tcT	p.S1592S	PDZD2_ENST00000282493.3_Silent_p.S1592S			O15018	PDZD2_HUMAN	PDZ domain containing 2	1592					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGATCCTTCGGAGTCAGAAG	0.577													47	102					1.47857e-17	1.67099e-17	1	0	T	32088330	G	T	32088330	2	4	319	1	0	0	0	0	0	0	0	1	11772	1103	39	3		3	PDZD2	5	32088330	Silent	SNP	G	TCGA-CV-7430-01A-11D-2129-08	18211527	32088330	148826930	38	56925											
MAP3K1	4214	broad.mit.edu	37	chr5	56167806	56167806	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatgaagaaagtcttacAgtgtgtgaagacggctgcag	12	10	13	6	1	1	5	0	3	1	2	1	5	1	5	0	1	2	2	0	1	4	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:56167806A>T	ENST00000399503.3	+	7	1371	c.1371A>T	c.(1369-1371)acA>acT	p.T457T		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	457					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAAGTCTTACAGTGTGTGAAG	0.428													34	29					0	0	0	0	T	56167806	A	T	56167806	2	4	319	1	0	0	0	0	0	0	0	1	9312	175	7	5		5	MAP3K1	5	56167806	Silent	SNP	A	TCGA-CV-7430-01A-11D-2129-08	24079476	56167806	124747454	39	56926											
PCDHB2	56133	broad.mit.edu	37	chr5	140475050	140475050	+	Missense_Mutation	SNP	G	G	T																															gcgggagtccacccaggtccGgcacggccctggtacggatt																										TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:140475050G>T	ENST00000194155.4	+	1	824	c.676G>T	c.(676-678)Ggc>Tgc	p.G226C		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		226	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAGGTCCGGCACGGCCCT	0.582													11	27					4.68919e-08	4.95972e-08	1	0	T	140475050	G	T	140475050	3	4	319	1	0	0	0	0	1	0	0	0	11613	1116	39	3	678	3	PCDHB2	5	140475050	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	84307244	140475050	40440210	40	56927	462	2									
PCDHB2	56133	broad.mit.edu	37	chr5	140475051	140475051	+	Missense_Mutation	SNP	G	G	A																															cgggagtccacccaggtccgGcacggccctggtacggattg																										TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:140475051G>A	ENST00000194155.4	+	1	825	c.677G>A	c.(676-678)gGc>gAc	p.G226D		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		226	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGGTCCGGCACGGCCCTG	0.582													11	27					0	0	0	0	A	140475051	G	A	140475051	3	1	319	1	0	0	0	0	1	0	0	0	11613	1203	42	4	679	4	PCDHB2	5	140475051	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	1	140475051	40440209	41	56928	462	2									
PCDHGA4	56111	broad.mit.edu	37	chr5	140735600	140735600	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagccaatggagacgtgaCgtattctttccggaaagtaa	13	9	12	7	3	1	2	0	1	1	1	2	5	2	4	2	3	1	2	2	3	4	4			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:140735600C>A	ENST00000571252.1	+	1	833	c.833C>A	c.(832-834)aCg>aAg	p.T278K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACGTGACGTATTCTTTC	0.458													4	32					0.014758	0.014848	1	0	A	140735600	C	A	140735600	3	1	319	1	0	0	0	0	1	0	0	0	11627	536	19	3	835	3	PCDHGA4	5	140735600	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	260549	140735600	40179660	42	56929											
FAF2	23197	broad.mit.edu	37	chr5	175913467	175913467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacaggatctacagctatGttgtctcaagacctcaacca	13	9	6	13	0	3	1	2	0	2	1	4	2	3	2	3	1	3	2	3	1	4	3			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:175913467G>A	ENST00000261942.6	+	3	297	c.244G>A	c.(244-246)Gtt>Att	p.V82I	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	82					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CTACAGCTATGTTGTCTCAAG	0.443													37	53					0	0	0	0	A	175913467	G	A	175913467	3	1	319	1	0	0	0	0	1	0	0	0	5411	1377	48	4	254	4	FAF2	5	175913467	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	35177867	175913467	5001793	43	56930											
RREB1	6239	broad.mit.edu	37	chr6	7231221	7231221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcctgaggaggaggcGgggagcagcgagcagccctc	11	2	18	10	2	0	2	0	1	0	1	1	6	0	5	2	5	5	2	2	5	2	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:7231221G>A	ENST00000379938.2	+	10	3426	c.2889G>A	c.(2887-2889)gcG>gcA	p.A963A	RREB1_ENST00000334984.6_Silent_p.A963A|RREB1_ENST00000349384.6_Silent_p.A963A|RREB1_ENST00000379933.3_Silent_p.A963A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	963					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGAGGAGGCGGGGAGCAGCG	0.632													12	4					0	0	0	0	A	7231221	G	A	7231221	2	1	319	1	0	0	0	0	0	0	0	1	13764	1103	39	1		1	RREB1	6	7231221	Silent	SNP	G	TCGA-CV-7430-01A-11D-2129-08		7231221	163883846	44	56931											
FOXP4	116113	broad.mit.edu	37	chr6	41557787	41557787	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggtctcgtgcaccccccGacctcggccgcagcccctgt	4	7	11	19	4	1	0	0	0	1	0	3	2	1	0	7	2	2	2	7	2	0	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:41557787G>A	ENST00000373060.1	+	11	1694	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	FOXP4_ENST00000373063.3_Silent_p.P399P|FOXP4_ENST00000409208.1_Silent_p.P400P|FOXP4_ENST00000373057.3_Silent_p.P410P|FOXP4_ENST00000307972.4_Silent_p.P412P	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	412					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGCACCCCCCGACCTCGGCCG	0.672													4	48					0	0	0	0	A	41557787	G	A	41557787	2	1	319	1	0	0	0	0	0	0	0	1	6076	1045	37	1		1	FOXP4	6	41557787	Silent	SNP	G	TCGA-CV-7430-01A-11D-2129-08	34326566	41557787	129557280	45	56932											
MTHFD1L	25902	broad.mit.edu	37	chr6	151293189	151293189	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggttggtgaagaaggatTtgtaggtaagttatttcttt	10	17	12	2	0	1	2	0	1	1	1	1	3	1	3	0	4	0	4	0	4	5	7			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:151293189T>A	ENST00000367321.3	+	20	2394	c.2120T>A	c.(2119-2121)tTt>tAt	p.F707Y	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	707	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GAAGAAGGATTTGTAGGTAAG	0.398													19	50					0	0	0	0	A	151293189	T	A	151293189	3	1	319	1	0	0	0	0	1	0	0	0	9998	1841	64	5	2198	5	MTHFD1L	6	151293189	Missense_Mutation	SNP	T	TCGA-CV-7430-01A-11D-2129-08	109735402	151293189	19821878	46	56933											
TIAM2	26230	broad.mit.edu	37	chr6	155451295	155451295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caacctggggagcctctcccCctcaggtatccgcctttctg	5	10	9	17	1	3	0	1	0	2	0	5	1	4	1	6	3	2	1	6	3	2	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:155451295C>T	ENST00000461783.3	+	6	2211	c.938C>T	c.(937-939)cCc>cTc	p.P313L	TIAM2_ENST00000360366.4_Missense_Mutation_p.P313L|TIAM2_ENST00000456144.1_Missense_Mutation_p.P313L|TIAM2_ENST00000529824.2_Missense_Mutation_p.P313L|TIAM2_ENST00000318981.5_Missense_Mutation_p.P313L|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	313					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCCTCTCCCCCTCAGGTATC	0.557													24	41					0	0	0	0	T	155451295	C	T	155451295	3	4	319	1	0	0	0	0	1	0	0	0	15985	623	22	4	940	4	TIAM2	6	155451295	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	4158106	155451295	15663772	47	56934											
FNDC1	84624	broad.mit.edu	37	chr6	159655239	159655239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccatcgcgcttgcccCtcgcggagggagcctggctc	3	7	14	17	4	0	0	0	0	0	0	3	2	0	2	5	3	3	2	5	3	0	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:159655239C>A	ENST00000297267.9	+	11	3895	c.3695C>A	c.(3694-3696)cCt>cAt	p.P1232H	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1169H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1232						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCGCTTGCCCCTCGCGGAGGG	0.697													4	10					0.014758	0.014848	1	0	A	159655239	C	A	159655239	3	1	319	1	0	0	0	0	1	0	0	0	6013	681	24	4	3737	4	FNDC1	6	159655239	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	4203944	159655239	11459828	48	56935											
ZNF804B	219578	broad.mit.edu	37	chr7	88962841	88962841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcatatccgataaacagcGgtccaccatgccaaatcgac	15	7	6	13	3	1	0	1	0	0	0	4	2	3	0	4	1	3	0	4	1	5	2	rs139327261	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr7:88962841G>A	ENST00000333190.4	+	4	1154	c.545G>A	c.(544-546)cGg>cAg	p.R182Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	182						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GATAAACAGCGGTCCACCATG	0.418										HNSCC(36;0.09)			35	63					0	0	0	0	A	88962841	G	A	88962841	3	1	319	1	0	0	0	0	1	0	0	0	18264	1116	39	1	559	1	ZNF804B	7	88962841	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08		88962841	70175822	49	56936											
SLC7A2	6542	broad.mit.edu	37	chr8	17407860	17407860	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggggctggtggctttaTgccttatggctttacgggaa	6	14	14	7	1	0	0	0	0	0	0	0	1	0	1	1	6	2	3	1	6	5	6			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:17407860T>C	ENST00000470360.1	+	7	986	c.869T>C	c.(868-870)aTg>aCg	p.M290T	SLC7A2_ENST00000004531.10_Missense_Mutation_p.M290T|SLC7A2_ENST00000398090.3_Missense_Mutation_p.M290T|SLC7A2_ENST00000522656.1_Missense_Mutation_p.M250T|SLC7A2_ENST00000494857.1_Missense_Mutation_p.M250T			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	250					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTGGCTTTATGCCTTATGGC	0.448													31	10					0	0	0	0	C	17407860	T	C	17407860	3	2	319	1	0	0	0	0	1	0	0	0	14785	1464	51	5	887	5	SLC7A2	8	17407860	Missense_Mutation	SNP	T	TCGA-CV-7430-01A-11D-2129-08		17407860	128956162	50	56937											
KCNU1	157855	broad.mit.edu	37	chr8	36766941	36766941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctttgtaatgcccttgagagCcagcaactataccaggaagg	12	9	10	10	0	0	1	0	1	0	1	0	3	0	2	3	2	5	2	3	2	5	5			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:36766941C>G	ENST00000399881.3	+	21	2256	c.2219C>G	c.(2218-2220)gCc>gGc	p.A740G		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	740						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCTTGAGAGCCAGCAACTAT	0.458													106	247					0	0	0	0	G	36766941	C	G	36766941	3	3	319	1	0	0	0	0	1	0	0	0	8146	739	26	4	2301	4	KCNU1	8	36766941	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	19359081	36766941	109597081	51	56938											
SLCO5A1	81796	broad.mit.edu	37	chr8	70667725	70667725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcactgttgtttgattTctccttcagaacatcgtcat	7	19	6	9	1	4	2	3	1	1	1	6	2	4	2	1	0	1	3	1	0	1	6			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:70667725T>C	ENST00000260126.3	-	4	1898	c.1192A>G	c.(1192-1194)Aaa>Gaa	p.K398E	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K398E|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K398E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	398						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTGTTTGATTTCTCCTTCAGA	0.358													28	49					0	0	0	0	C	70667725	T	C	70667725	3	2	319	1	0	0	0	0	1	0	0	0	14819	1792	62	5	1382	5	SLCO5A1	8	70667725	Missense_Mutation	SNP	T	TCGA-CV-7430-01A-11D-2129-08	33900784	70667725	75696297	52	56939											
COL14A1	7373	broad.mit.edu	37	chr8	121228628	121228628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaacctgagaatctccaatGttggctctaacagtgctcga	12	10	9	10	1	2	1	0	1	2	1	4	4	2	1	2	1	3	3	2	1	4	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:121228628G>A	ENST00000297848.3	+	14	1906	c.1636G>A	c.(1636-1638)Gtt>Att	p.V546I	COL14A1_ENST00000309791.4_Missense_Mutation_p.V546I|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.V451I|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	546	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATCTCCAATGTTGGCTCTAA	0.353													57	80					0	0	0	0	A	121228628	G	A	121228628	3	1	319	1	0	0	0	0	1	0	0	0	3701	1377	48	4	1686	4	COL14A1	8	121228628	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	50560903	121228628	25135394	53	56940											
FAM135B	51059	broad.mit.edu	37	chr8	139277978	139277978	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagagtaaatgaactcggaAgaccacagcatcatttatgg	16	8	9	8	1	1	3	1	1	0	2	2	4	1	4	1	2	2	2	1	2	6	3			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:139277978A>G	ENST00000395297.1	-	4	435	c.265T>C	c.(265-267)Ttc>Ctc	p.F89L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	89										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAACTCGGAAGACCACAGCA	0.488										HNSCC(54;0.14)			19	47					0	0	0	0	G	139277978	A	G	139277978	3	3	319	1	0	0	0	0	1	0	0	0	5490	72	3	5	4023	5	FAM135B	8	139277978	Missense_Mutation	SNP	A	TCGA-CV-7430-01A-11D-2129-08	18049350	139277978	7086044	54	56941											
JRK	8629	broad.mit.edu	37	chr8	143745934	143745934	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggcacgcagcgcccgcagCtgccccacttcctgcgcact	6	5	10	20	5	0	0	0	0	0	0	1	0	1	0	4	1	4	5	4	1	0	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:143745934C>A	ENST00000507178.2	-	0	1876									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				GCGCCCgcagctgccccactt	0.706													8	6					1.26484e-09	1.35519e-09	1	0	A	143745934	C	A	143745934	1	1	319	0	1	0	0	0	0	0	0	0	8017	797	28	4		4	JRK	8	143745934	RNA	SNP	C	TCGA-CV-7430-01A-11D-2129-08	4467956	143745934	2618088	55	56942											
GLIS3	169792	broad.mit.edu	37	chr9	4117821	4117821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcatgtggatcagcagttTatagcgggcgttgaagggct	8	12	14	7	2	2	1	2	1	1	0	3	2	2	2	0	3	2	4	0	3	3	4			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:4117821T>C	ENST00000324333.10	-	3	1385	c.1192A>G	c.(1192-1194)Aaa>Gaa	p.K398E	GLIS3_ENST00000381971.3_Missense_Mutation_p.K553E	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	398					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		ATCAGCAGTTTATAGCGGGCG	0.567													70	31					0	0	0	0	C	4117821	T	C	4117821	3	2	319	1	0	0	0	0	1	0	0	0	6498	1763	61	5	1167	5	GLIS3	9	4117821	Missense_Mutation	SNP	T	TCGA-CV-7430-01A-11D-2129-08		4117821	137095610	56	56943											
ZNF484	83744	broad.mit.edu	37	chr9	95610231	95610231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctcacattcatggcattCatgctgcttttcttcagcac	7	15	6	13	0	5	0	4	0	1	0	5	0	5	0	1	1	4	4	1	1	0	5			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:95610231C>T	ENST00000395505.2	-	3	822	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.E244K|ZNF484_ENST00000395506.3_Missense_Mutation_p.E282K|ZNF484_ENST00000375495.3_Missense_Mutation_p.E280K	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E280*(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCATGGCATTCATGCTGCTTT	0.428													33	121					0	0	0	0	T	95610231	C	T	95610231	3	4	319	1	0	0	0	0	1	0	0	0	18032	835	29	2	1724	2	ZNF484	9	95610231	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	91492410	95610231	45603200	57	56944											
KIAA0368	23392	broad.mit.edu	37	chr9	114173351	114173351	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgctctgacattctcatTttctttttagccaaatacct	8	19	4	10	0	3	1	1	1	3	0	4	1	3	1	2	0	3	2	2	0	3	8			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:114173351T>G	ENST00000259335.4	-	23	2819	c.2820A>C	c.(2818-2820)aaA>aaC	p.K940N	KIAA0368_ENST00000338205.5_Missense_Mutation_p.K762N	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACATTCTCATTTTCTTTTTAG	0.418													199	180					0	0	0	0	G	114173351	T	G	114173351	3	3	319	1	0	0	0	0	1	0	0	0	8222	1838	64	5	3349	5	KIAA0368	9	114173351	Missense_Mutation	SNP	T	TCGA-CV-7430-01A-11D-2129-08	18563120	114173351	27040080	58	56945											
PAPPA	5069	broad.mit.edu	37	chr9	119065052	119065052	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagatgaacccagccggtgCtatttccatgatggtgatgg	9	10	13	9	1	0	4	0	3	0	1	1	4	1	4	3	3	3	2	3	3	2	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:119065052C>A	ENST00000328252.3	+	10	3339	c.2970C>A	c.(2968-2970)tgC>tgA	p.C990*	PAPPA_ENST00000534838.1_Nonsense_Mutation_p.C28*|RP11-45A16.4_ENST00000451100.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	990					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCAGCCGGTGCTATTTCCATG	0.458													21	59					2.70639e-06	2.8263e-06	1	0	A	119065052	C	A	119065052	4	1	319	1	0	0	0	0	0	1	0	0	11503	805	28	4	3008	4	PAPPA	9	119065052	Nonsense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	4891701	119065052	22148379	59	56946											
OLFML2A	169611	broad.mit.edu	37	chr9	127557384	127557384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgcctacgtccacaaggtgGcctcccagatgaacacactg	11	6	9	15	2	0	2	0	1	0	1	2	2	2	2	4	2	2	0	4	2	3	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:127557384G>A	ENST00000373580.3	+	3	436	c.436G>A	c.(436-438)Gcc>Acc	p.A146T		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	146										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCACAAGGTGGCCTCCCAGAT	0.652													8	15					0	0	0	0	A	127557384	G	A	127557384	3	1	319	1	0	0	0	0	1	0	0	0	10928	1203	42	4	446	4	OLFML2A	9	127557384	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	8492332	127557384	13656047	60	56947											
OLFML2A	169611	broad.mit.edu	37	chr9	127566456	127566456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccgcagagcccaactccGcagagcaggatgaggctgag	11	4	13	13	2	0	4	0	2	0	2	2	5	2	5	3	2	3	4	3	2	1	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:127566456G>A	ENST00000373580.3	+	6	1003	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	OLFML2A_ENST00000288815.5_Missense_Mutation_p.A121T	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	335										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCCCAACTCCGCAGAGCAGGA	0.652													47	22					0	0	0	0	A	127566456	G	A	127566456	3	1	319	1	0	0	0	0	1	0	0	0	10928	1087	38	1	1025	1	OLFML2A	9	127566456	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	9072	127566456	13646975	61	56948											
SCAI	286205	broad.mit.edu	37	chr9	127715225	127715225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatgattctggataatttCgtgtttcctggtaggcaaag	10	15	11	5	1	1	1	0	1	1	0	3	3	2	2	1	3	0	3	1	3	4	6			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:127715225C>T	ENST00000336505.5	-	18	1740	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	SCAI_ENST00000373549.4_Missense_Mutation_p.R584Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	561					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.R584Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TGGATAATTTCGTGTTTCCTG	0.358													43	43					0	0	0	0	T	127715225	C	T	127715225	3	4	319	1	0	0	0	0	1	0	0	0	13955	884	31	1	142	1	SCAI	9	127715225	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	148769	127715225	13498206	62	56949											
MRPS2	51116	broad.mit.edu	37	chr9	138395504	138395504	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcccacatggcctaccgcaAgggcatcatcttgtttataa	10	10	8	13	2	2	0	1	0	1	0	2	0	2	0	3	2	1	3	3	2	4	5			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:138395504A>T	ENST00000371785.1	+	5	625	c.416A>T	c.(415-417)aAg>aTg	p.K139M	MRPS2_ENST00000241600.5_Missense_Mutation_p.K139M|MRPS2_ENST00000488610.1_3'UTR|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	139					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GCCTACCGCAAGGGCATCATC	0.577													26	60					0	0	0	0	T	138395504	A	T	138395504	3	4	319	1	0	0	0	0	1	0	0	0	9901	72	3	5	430	5	MRPS2	9	138395504	Missense_Mutation	SNP	A	TCGA-CV-7430-01A-11D-2129-08	10680279	138395504	2817927	63	56950											
EXD3	54932	broad.mit.edu	37	chr9	140245541	140245541	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaatctgcttctccacAtgggccagggcggggcagga	8	6	14	13	1	2	1	0	0	2	1	3	2	2	2	3	5	1	2	3	5	1	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:140245541A>G	ENST00000340951.4	-	14	1638	c.1443T>C	c.(1441-1443)caT>caC	p.H481H	EXD3_ENST00000342129.4_Silent_p.H161H	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	481					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GCTTCTCCACATGGGCCAGGG	0.672													6	6					0	0	0	0	G	140245541	A	G	140245541	2	3	319	1	0	0	0	0	0	0	0	1	5336	214	8	5		5	EXD3	9	140245541	Silent	SNP	A	TCGA-CV-7430-01A-11D-2129-08	1850037	140245541	967890	64	56951											
NOXA1	10811	broad.mit.edu	37	chr9	140327703	140327703	+	Silent	SNP	C	C	T																															cccggcccctgtgaggacccCgcgggtgctggggtaagagg																										TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:140327703C>T	ENST00000341349.2	+	10	1077	c.897C>T	c.(895-897)ccC>ccT	p.P299P	NOXA1_ENST00000392815.2_Silent_p.P243P	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	299			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		GTGAGGACCCCGCGGGTGCTG	0.652													4	13					0	0	0	0	T	140327703	C	T	140327703	2	4	319	1	0	0	0	0	0	0	0	1	10630	639	23	1		1	NOXA1	9	140327703	Silent	SNP	C	TCGA-CV-7430-01A-11D-2129-08	82162	140327703	885728	65	56952	463	2									
NOXA1	10811	broad.mit.edu	37	chr9	140327704	140327704	+	Missense_Mutation	SNP	G	G	T																															ccggcccctgtgaggaccccGcgggtgctggggtaagaggc																										TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:140327704G>T	ENST00000341349.2	+	10	1078	c.898G>T	c.(898-900)Gcg>Tcg	p.A300S	NOXA1_ENST00000392815.2_Missense_Mutation_p.A244S	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	300			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		TGAGGACCCCGCGGGTGCTGG	0.652													4	13					0.00024832	0.000254489	1	0	T	140327704	G	T	140327704	3	4	319	1	0	0	0	0	1	0	0	0	10630	1087	38	3	936	3	NOXA1	9	140327704	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	1	140327704	885727	66	56953	463	2									
FAM178A	55719	broad.mit.edu	37	chr10	102684308	102684308	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttctgggcattctacagAatccaccaaacacaaggaac	15	8	7	11	0	2	1	0	0	2	1	3	2	3	2	2	2	3	2	2	2	5	3			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr10:102684308A>G	ENST00000238961.3	+	5	1698	c.1550A>G	c.(1549-1551)gAa>gGa	p.E517G	FAM178A_ENST00000370269.3_Missense_Mutation_p.E517G|FAM178A_ENST00000370271.3_Missense_Mutation_p.E517G	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	517																	CATTCTACAGAATCCACCAAA	0.393													70	82					0	0	0	0	G	102684308	A	G	102684308	3	3	319	1	0	0	0	0	1	0	0	0	5544	246	9	5	1568	5	FAM178A	10	102684308	Missense_Mutation	SNP	A	TCGA-CV-7430-01A-11D-2129-08		102684308	32850439	67	56954											
SORCS1	114815	broad.mit.edu	37	chr10	108371726	108371726	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccactcagggatgtcCgggttgtagtcatccaggtt	6	12	11	12	1	2	0	2	0	0	0	6	1	6	1	4	3	0	3	4	3	1	3			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr10:108371726C>T	ENST00000263054.6	-	22	2983	c.2976G>A	c.(2974-2976)ccG>ccA	p.P992P	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Silent_p.P527P|SORCS1_ENST00000344440.6_Silent_p.P992P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	992						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAGGGATGTCCGGGTTGTAGT	0.483													24	27					0	0	0	0	T	108371726	C	T	108371726	2	4	319	1	0	0	0	0	0	0	0	1	15018	639	23	1		1	SORCS1	10	108371726	Silent	SNP	C	TCGA-CV-7430-01A-11D-2129-08	5687418	108371726	27163021	68	56955											
FAM160B1	57700	broad.mit.edu	37	chr10	116590627	116590627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcttgcaccttctcttcCtttacaagaagattttgttt	8	18	6	9	0	1	2	0	0	1	2	3	2	2	2	2	0	3	4	2	0	4	9			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr10:116590627C>G	ENST00000369248.4	+	2	397	c.62C>G	c.(61-63)cCt>cGt	p.P21R	FAM160B1_ENST00000369246.1_Missense_Mutation_p.P21R|FAM160B1_ENST00000369250.3_Missense_Mutation_p.P21R	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	21										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CCTTCTCTTCCTTTACAAGAA	0.318													22	61					0	0	0	0	G	116590627	C	G	116590627	3	3	319	1	0	0	0	0	1	0	0	0	5511	681	24	4	68	4	FAM160B1	10	116590627	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	8218901	116590627	18944120	69	56956											
ZNF214	7761	broad.mit.edu	37	chr11	7021319	7021319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aactgtgactaaaaccctttCcacaatcatgacatttatag	15	12	4	10	0	1	2	1	2	0	0	2	2	2	2	2	0	2	0	2	0	6	5			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:7021319C>T	ENST00000278314.4	-	3	1910	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	ZNF214_ENST00000536068.1_Missense_Mutation_p.G532E	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		AAAACCCTTTCCACAATCATG	0.413													56	41					0	0	0	0	T	7021319	C	T	7021319	3	4	319	1	0	0	0	0	1	0	0	0	17865	855	30	2	229	2	ZNF214	11	7021319	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08		7021319	127985197	70	56957											
RRAS2	22800	broad.mit.edu	37	chr11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggctccaaactcttctTgtcctgctgtatccaaaact	9	14	5	13	0	3	0	1	0	2	0	6	0	6	0	3	1	3	3	3	1	4	3	rs113954997		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:14316390T>A	ENST00000545643.1	-	3	546	c.233A>T	c.(232-234)cAa>cTa	p.Q78L	RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	72						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	p.Q72L(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393													37	38					0	0	0	0	A	14316390	T	A	14316390	3	1	319	1	0	0	0	0	1	0	0	0	13762	1812	63	5	415	5	RRAS2	11	14316390	Missense_Mutation	SNP	T	TCGA-CV-7430-01A-11D-2129-08	7295071	14316390	120690126	71	56958											
RAG2	5897	broad.mit.edu	37	chr11	36614195	36614195	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaagatttttccagaaccTtttttacggagggatttcat	10	16	8	7	1	2	2	2	0	0	2	3	4	3	4	2	2	2	0	2	2	3	6			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:36614195T>A	ENST00000311485.3	-	2	1685	c.1524A>T	c.(1522-1524)aaA>aaT	p.K508N		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	508					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTCCAGAACCTTTTTTACGGA	0.393									Familial Hemophagocytic Lymphohistiocytosis				4	43					0	0	0	0	A	36614195	T	A	36614195	3	1	319	1	0	0	0	0	1	0	0	0	13087	1606	56	5	63	5	RAG2	11	36614195	Missense_Mutation	SNP	T	TCGA-CV-7430-01A-11D-2129-08	22297805	36614195	98392321	72	56959											
IGHMBP2	3508	broad.mit.edu	37	chr11	68696742	68696742	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggccctcgaggcgagCtgctggatccccctgctgaa	6	6	13	16	2	0	1	0	1	0	0	2	4	1	2	4	3	3	3	4	3	1	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:68696742C>T	ENST00000255078.3	+	8	1263	c.1152C>T	c.(1150-1152)agC>agT	p.S384S		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	384	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCGAGGCGAGCTGCTGGATCC	0.622													41	100					0	0	0	0	T	68696742	C	T	68696742	2	4	319	1	0	0	0	0	0	0	0	1	7644	796	28	4		4	IGHMBP2	11	68696742	Silent	SNP	C	TCGA-CV-7430-01A-11D-2129-08	32082547	68696742	66309774	73	56960											
DLG2	1740	broad.mit.edu	37	chr11	84996292	84996292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttgaagtctgtcatggCacggagcaagaagggatgtc	11	11	13	6	1	2	2	1	1	1	1	3	4	2	4	0	3	1	2	0	3	3	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:84996292C>T	ENST00000376104.2	-	4	469	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	DLG2_ENST00000543673.1_Missense_Mutation_p.C53Y	NM_001142699.1	NP_001136171.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTGTCATGGCACGGAGCAAG	0.383													41	113					0	0	0	0	T	84996292	C	T	84996292	3	4	319	1	0	0	0	0	1	0	0	0	4592	710	25	4	3074	4	DLG2	11	84996292	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	16299550	84996292	50010224	74	56961											
TMEM133	83935	broad.mit.edu	37	chr11	100863058	100863058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgacctcacatcactgcGtaggacccggaaatcacatc	12	7	8	14	2	3	1	3	1	0	0	4	3	3	3	2	2	1	2	2	2	2	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:100863058G>T	ENST00000303130.2	+	1	248	c.19G>T	c.(19-21)Gta>Tta	p.V7L		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	7						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		ACATCACTGCGTAGGACCCGG	0.428													33	53					9.65021e-13	1.06865e-12	1	0	T	100863058	G	T	100863058	3	4	319	1	0	0	0	0	1	0	0	0	16143	1145	40	3	21	3	TMEM133	11	100863058	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	15866766	100863058	34143458	75	56962											
MCAM	4162	broad.mit.edu	37	chr11	119181165	119181165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagttcgctcttacgagacGggggtagcgtgctgggagga	8	8	17	8	4	1	1	0	0	1	1	2	4	1	3	0	4	3	4	0	4	3	3			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:119181165G>A	ENST00000264036.4	-	15	1819	c.1805C>T	c.(1804-1806)cCg>cTg	p.P602L	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	602					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTTACGAGACGGGGGTAGCGT	0.587													58	99					0	0	0	0	A	119181165	G	A	119181165	3	1	319	1	0	0	0	0	1	0	0	0	9437	1116	39	1	143	1	MCAM	11	119181165	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	18318107	119181165	15825351	76	56963											
ROBO4	54538	broad.mit.edu	37	chr11	124756993	124756993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacaggcgactggaagctGggctggggccagagagggaa	10	4	20	7	1	0	1	0	0	0	1	0	6	0	4	1	7	1	2	1	7	2	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:124756993G>T	ENST00000306534.3	-	15	2800	c.2315C>A	c.(2314-2316)cCa>cAa	p.P772Q	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.P627Q	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	772	Pro/Ser-rich.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACTGGAAGCTGGGCTGGGGCC	0.652													29	45					1.77063e-15	1.97402e-15	1	0	T	124756993	G	T	124756993	3	4	319	1	0	0	0	0	1	0	0	0	13601	1348	47	4	724	4	ROBO4	11	124756993	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	5575828	124756993	10249523	77	56964											
RECQL	5965	broad.mit.edu	37	chr12	21630754	21630754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacctcataatatagatttgGcctattaaaagaagctgtaa	16	13	6	6	0	1	2	1	0	0	2	1	2	1	2	2	1	2	2	2	1	9	8			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:21630754G>A	ENST00000444129.2	-	7	1318	c.850C>T	c.(850-852)Cca>Tca	p.P284S	RECQL_ENST00000421138.2_Missense_Mutation_p.P284S	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	284					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TATAGATTTGGCCTATTAAAA	0.328								Other identified genes with known or suspected DNA repair function					24	73					0	0	0	0	A	21630754	G	A	21630754	3	1	319	1	0	0	0	0	1	0	0	0	13283	1203	42	4	1135	4	RECQL	12	21630754	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08		21630754	112221141	78	56965											
KCNJ8	3764	broad.mit.edu	37	chr12	21918866	21918866	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtttctcatccagctctcGggcactgcaccgtggagcag	7	9	12	13	2	2	0	1	0	2	0	5	1	3	1	2	3	3	5	2	3	0	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:21918866G>A	ENST00000240662.2	-	3	1411	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	356						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TCCAGCTCTCGGGCACTGCAC	0.463													72	152					0	0	0	0	A	21918866	G	A	21918866	4	1	319	1	0	0	0	0	0	1	0	0	8109	1124	39	1	212	1	KCNJ8	12	21918866	Nonsense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	288112	21918866	111933029	79	56966											
LRRC10	376132	broad.mit.edu	37	chr12	70004207	70004207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actcagctcacagaccacatCcggcagctgggtgaggcagt	10	6	12	13	1	2	2	2	1	0	1	3	2	3	2	2	3	2	4	2	3	0	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:70004207C>T	ENST00000361484.3	-	1	735	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	138						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CAGACCACATCCGGCAGCTGG	0.632													30	85					0	0	0	0	T	70004207	C	T	70004207	3	4	319	1	0	0	0	0	1	0	0	0	9031	855	30	2	425	2	LRRC10	12	70004207	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	48085341	70004207	63847688	80	56967											
NAV3	89795	broad.mit.edu	37	chr12	78225481	78225481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggagaaagaagacagCaaggttagttgctgaagtta	16	7	13	5	0	0	4	0	1	0	3	0	5	0	4	1	2	2	5	1	2	7	3			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:78225481C>A	ENST00000397909.2	+	1	413	c.240C>A	c.(238-240)agC>agA	p.S80R	NAV3_ENST00000228327.6_Missense_Mutation_p.S80R|NAV3_ENST00000266692.7_Missense_Mutation_p.S80R|NAV3_ENST00000536525.2_Missense_Mutation_p.S80R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	80	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S80R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGAAGACAGCAAGGTTAGTT	0.413										HNSCC(70;0.22)			61	24					3.36121e-32	3.90563e-32	1	0	A	78225481	C	A	78225481	3	1	319	1	0	0	0	0	1	0	0	0	10255	709	25	4	242	4	NAV3	12	78225481	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	8221274	78225481	55626414	81	56968											
WSCD2	9671	broad.mit.edu	37	chr12	108634152	108634152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcgggaccactggcgcagCggacggaccatctgcatcaa	10	4	14	13	4	2	0	1	0	1	0	2	4	2	3	2	4	3	2	2	4	1	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:108634152C>T	ENST00000332082.4	+	9	1994	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	WSCD2_ENST00000547525.1_Silent_p.S392S|WSCD2_ENST00000261400.3_Silent_p.S392S|WSCD2_ENST00000549903.1_Silent_p.S392S			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	392						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ACTGGCGCAGCGGACGGACCA	0.607													148	54					0	0	0	0	T	108634152	C	T	108634152	2	4	319	1	0	0	0	0	0	0	0	1	17503	767	27	1		1	WSCD2	12	108634152	Silent	SNP	C	TCGA-CV-7430-01A-11D-2129-08	30408671	108634152	25217743	82	56969											
SELPLG	6404	broad.mit.edu	37	chr12	109016914	109016914	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctctggcgtcaggccCgggctcttggccttggacag	3	9	16	13	2	3	0	1	0	2	0	3	1	3	1	2	6	0	2	2	6	0	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:109016914C>A	ENST00000388962.3	-	3	1299	c.1140G>T	c.(1138-1140)ccG>ccT	p.P380P	SELPLG_ENST00000228463.6_Silent_p.P406P|SELPLG_ENST00000550948.1_Silent_p.P390P	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	390					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCGTCAGGCCCGGGCTCTTGG	0.642													20	8					8.00594e-06	8.30805e-06	1	0	A	109016914	C	A	109016914	2	1	319	1	0	0	0	0	0	0	0	1	14107	639	23	3		3	SELPLG	12	109016914	Silent	SNP	C	TCGA-CV-7430-01A-11D-2129-08	382762	109016914	24834981	83	56970											
BRCA2	675	broad.mit.edu	37	chr13	32972595	32972595	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaacacccataaagaaaaaAgaactgaattctcctcagat	20	7	5	9	0	2	4	1	1	1	3	3	5	2	4	2	0	2	0	2	0	8	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr13:32972595A>T	ENST00000544455.1	+	27	10172	c.9945A>T	c.(9943-9945)aaA>aaT	p.K3315N	BRCA2_ENST00000380152.3_Missense_Mutation_p.K3315N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3315					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAAAGAAAAAAGAACTGAATT	0.368			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			34	51					0	0	0	0	T	32972595	A	T	32972595	3	4	319	1	0	0	0	0	1	0	0	0	1507	69	3	5	10047	5	BRCA2	13	32972595	Missense_Mutation	SNP	A	TCGA-CV-7430-01A-11D-2129-08		32972595	82197283	84	56971											
SUGT1	10910	broad.mit.edu	37	chr13	53233376	53233376	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacttttacagaaggacaaaAattagatagtaagtattaaa	21	11	6	3	0	0	2	0	0	0	2	0	3	0	3	0	1	2	2	0	1	11	7	rs12875900		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr13:53233376A>G	ENST00000535397.1	+	6	525	c.152A>G	c.(151-153)aAa>aGa	p.K51R	SUGT1_ENST00000310528.7_Missense_Mutation_p.K107R|SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.K107R			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	107					mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GAAGGACAAAAATTAGATAGT	0.249													17	23					0	0	0	0	G	53233376	A	G	53233376	3	3	319	1	0	0	0	0	1	0	0	0	15459	14	1	5	338	5	SUGT1	13	53233376	Missense_Mutation	SNP	A	TCGA-CV-7430-01A-11D-2129-08	20260781	53233376	61936502	85	56972											
RASA3	22821	broad.mit.edu	37	chr13	114758033	114758033	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccgtctcacggtccccatCaatgtccagctggatgttgg	6	11	10	14	2	2	0	2	0	1	0	6	1	5	1	4	3	1	2	4	3	1	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr13:114758033C>G	ENST00000334062.7	-	22	2294	c.2173G>C	c.(2173-2175)Gat>Cat	p.D725H	RASA3_ENST00000389544.4_Missense_Mutation_p.D693H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	725					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CGGTCCCCATCAATGTCCAGC	0.483													17	29					0	0	0	0	G	114758033	C	G	114758033	3	3	319	1	0	0	0	0	1	0	0	0	13144	826	29	2	343	2	RASA3	13	114758033	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	61524657	114758033	411845	86	56973											
KTN1	3895	broad.mit.edu	37	chr14	56142559	56142559	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttatttttacagttgaagGcacagttaaatgaaacactc	14	14	6	7	0	0	2	0	2	0	0	1	2	0	2	0	1	2	3	0	1	6	7			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:56142559G>C	ENST00000416613.1	+	40	3850	c.3778G>C	c.(3778-3780)Gca>Cca	p.A1260P	KTN1_ENST00000438792.2_Missense_Mutation_p.A1203P|KTN1_ENST00000554507.1_Missense_Mutation_p.A498P|KTN1_ENST00000555573.1_Missense_Mutation_p.A237P|KTN1_ENST00000395309.3_Missense_Mutation_p.A1260P|KTN1_ENST00000395308.1_Missense_Mutation_p.A1209P|KTN1_ENST00000413890.2_Missense_Mutation_p.A1209P|KTN1_ENST00000395314.3_Missense_Mutation_p.A1260P|KTN1_ENST00000395311.1_Missense_Mutation_p.A1209P			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1260					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ACAGTTGAAGGCACAGTTAAA	0.368			T	RET	papillary thryoid								26	47					0	0	0	0	C	56142559	G	C	56142559	3	2	319	1	0	0	0	0	1	0	0	0	8638	1203	42	4	3936	4	KTN1	14	56142559	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08		56142559	51206981	87	56974											
SLC8A3	6547	broad.mit.edu	37	chr14	70633852	70633852	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctgttttgtagtccacatAcatggtctttgacatgtctc	7	17	7	10	0	3	1	0	1	3	0	5	1	4	1	1	1	1	2	1	1	2	5			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:70633852A>T	ENST00000381269.2	-	2	2041	c.1288T>A	c.(1288-1290)Tat>Aat	p.Y430N	SLC8A3_ENST00000528359.1_Missense_Mutation_p.Y430N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.Y430N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.Y430N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.Y430N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	430	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TAGTCCACATACATGGTCTTT	0.522													74	102					0	0	0	0	T	70633852	A	T	70633852	3	4	319	1	0	0	0	0	1	0	0	0	14796	391	14	5	1634	5	SLC8A3	14	70633852	Missense_Mutation	SNP	A	TCGA-CV-7430-01A-11D-2129-08	14491293	70633852	36715688	88	56975											
MKRN3	7681	broad.mit.edu	37	chr15	23811475	23811475	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggggtttctttgaagcCgagagagacaatgcagaccg	13	7	14	7	2	1	4	0	1	1	3	1	7	1	4	2	2	2	2	2	2	3	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr15:23811475C>T	ENST00000314520.3	+	1	1022	c.546C>T	c.(544-546)gcC>gcT	p.A182A	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	182						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCTTTGAAGCCGAGAGAGACA	0.617													23	30					0	0	0	0	T	23811475	C	T	23811475	2	4	319	1	0	0	0	0	0	0	0	1	9677	639	23	1		1	MKRN3	15	23811475	Silent	SNP	C	TCGA-CV-7430-01A-11D-2129-08		23811475	78719917	89	56976											
CHST14	113189	broad.mit.edu	37	chr15	40763950	40763950	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacagcgtggacgtccgcCtcaagatggaccaccgcagt	9	6	13	13	4	1	1	1	0	0	1	2	4	2	4	4	3	1	1	4	3	1	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr15:40763950C>A	ENST00000306243.5	+	1	791	c.538C>A	c.(538-540)Ctc>Atc	p.L180I	CHST14_ENST00000559991.1_Missense_Mutation_p.L155I	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	180					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGACGTCCGCCTCAAGATGGA	0.602													26	42					4.59853e-10	4.9592e-10	1	0	A	40763950	C	A	40763950	3	1	319	1	0	0	0	0	1	0	0	0	3431	681	24	4	540	4	CHST14	15	40763950	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	16952475	40763950	61767442	90	56977											
LIPC	3990	broad.mit.edu	37	chr15	58834054	58834054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcagccggcccagccagTgaacgtggggctggtggact	6	7	16	12	2	1	1	1	1	1	0	2	2	1	2	3	5	3	1	3	5	1	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr15:58834054T>C	ENST00000414170.3	+	4	631	c.344T>C	c.(343-345)gTg>gCg	p.V115A	LIPC_ENST00000356113.6_Missense_Mutation_p.V115A|LIPC_ENST00000299022.5_Missense_Mutation_p.V115A|LIPC_ENST00000433326.2_Intron			P11150	LIPC_HUMAN	lipase, hepatic	115					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCCCAGCCAGTGAACGTGGGG	0.652													14	11					0	0	0	0	C	58834054	T	C	58834054	3	2	319	1	0	0	0	0	1	0	0	0	8875	1696	59	5	354	5	LIPC	15	58834054	Missense_Mutation	SNP	T	TCGA-CV-7430-01A-11D-2129-08	18070104	58834054	43697338	91	56978											
CLEC16A	23274	broad.mit.edu	37	chr16	11097000	11097000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcccttgagatgaacaagCacaagggcaagaggcgggtg	12	5	16	8	1	0	3	0	2	0	2	1	4	1	3	1	4	2	2	1	4	4	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:11097000C>T	ENST00000409790.1	+	11	1371	c.1141C>T	c.(1141-1143)Cac>Tac	p.H381Y	CLEC16A_ENST00000409552.3_Missense_Mutation_p.H379Y	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	381										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GATGAACAAGCACAAGGGCAA	0.537													15	35					0	0	0	0	T	11097000	C	T	11097000	3	4	319	1	0	0	0	0	1	0	0	0	3530	710	25	4	1179	4	CLEC16A	16	11097000	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08		11097000	79257753	92	56979											
CDH8	1006	broad.mit.edu	37	chr16	61859022	61859022	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccatatctttggcttggatAacaaccaggtactcctcctt	9	13	6	13	0	1	0	0	0	1	0	3	1	3	1	4	3	3	2	4	3	4	6			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:61859022A>T	ENST00000577390.1	-	5	1683	c.729T>A	c.(727-729)gtT>gtA	p.V243V	CDH8_ENST00000299345.6_Silent_p.V243V|CDH8_ENST00000584337.1_Silent_p.V243V|CDH8_ENST00000577730.1_Silent_p.V243V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	243	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGCTTGGATAACAACCAGGT	0.458													31	84					0	0	0	0	T	61859022	A	T	61859022	2	4	319	1	0	0	0	0	0	0	0	1	3145	349	13	5		5	CDH8	16	61859022	Silent	SNP	A	TCGA-CV-7430-01A-11D-2129-08	50762022	61859022	28495731	93	56980											
CDH3	1001	broad.mit.edu	37	chr16	68729736	68729736	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccaggccggaggtggttctCcgcaatgacgtggcaccaac	8	6	14	13	3	1	1	0	1	1	0	2	2	1	2	4	5	1	3	4	5	2	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:68729736C>T	ENST00000264012.4	+	15	2734	c.2190C>T	c.(2188-2190)ctC>ctT	p.L730L	CDH3_ENST00000581171.1_Silent_p.L675L|CDH3_ENST00000429102.2_Silent_p.L730L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	730					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		AGGTGGTTCTCCGCAATGACG	0.582													48	56					0	0	0	0	T	68729736	C	T	68729736	2	4	319	1	0	0	0	0	0	0	0	1	3140	842	30	2		2	CDH3	16	68729736	Silent	SNP	C	TCGA-CV-7430-01A-11D-2129-08	6870714	68729736	21625017	94	56981											
SF3B3	23450	broad.mit.edu	37	chr16	70590203	70590203	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgtggggcttgtggAcaacactgtcagaatcatct	8	11	12	10	0	3	1	2	0	1	1	3	2	3	2	1	4	1	2	1	4	2	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:70590203A>T	ENST00000302516.5	+	14	2043	c.1832A>T	c.(1831-1833)gAc>gTc	p.D611V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	611					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGGCTTGTGGACAACACTGTC	0.542													59	157					0	0	0	0	T	70590203	A	T	70590203	3	4	319	1	0	0	0	0	1	0	0	0	14239	275	10	5	1882	5	SF3B3	16	70590203	Missense_Mutation	SNP	A	TCGA-CV-7430-01A-11D-2129-08	1860467	70590203	19764550	95	56982											
CALB2	794	broad.mit.edu	37	chr16	71423757	71423757	+	Frame_Shift_Del	DEL	C	C	-																															agattgtgctctgcagcgagCcccccatgtaaagtggggac																										TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:71423757delC	ENST00000302628.4	+	11	882	c.805delC	c.(805-807)ccfs	p.P270fs	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	270	EF-hand 6.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CTGCAGCGAGCCCCCCATGTA	0.587													50	135	---	---	---	---					-	71423757	C	-	71423757	7	5	319	1	0	1	0	1	0	0	0	0	2599	739	26	0	847	0	CALB2	16	71423757	Frame_Shift_Del	DEL	C	TCGA-CV-7430-01A-11D-2129-08	833554	71423757	18930996	96	56983											
CNTNAP4	85445	broad.mit.edu	37	chr16	76555134	76555134	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggatgtatctttctttttTaagacaacagcttcatctgg	9	16	8	8	1	4	1	1	0	3	1	4	2	4	2	0	2	2	2	0	2	3	6			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:76555134T>C	ENST00000307431.8	+	17	2845	c.2460T>C	c.(2458-2460)ttT>ttC	p.F820F	CNTNAP4_ENST00000377504.4_Silent_p.F772F|CNTNAP4_ENST00000478060.1_Silent_p.F748F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.F824F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	821	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTTTCTTTTTTAAGACAACAG	0.408													79	249					0	0	0	0	C	76555134	T	C	76555134	2	2	319	1	0	0	0	0	0	0	0	1	3679	1751	61	5		5	CNTNAP4	16	76555134	Silent	SNP	T	TCGA-CV-7430-01A-11D-2129-08	5131377	76555134	13799619	97	56984											
FBXO31	79791	broad.mit.edu	37	chr16	87376494	87376494	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctcacctcctgcctccCgccggacatcctgtggtggt	3	10	12	16	2	1	0	1	0	0	0	4	1	4	1	6	4	1	1	6	4	0	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:87376494C>A	ENST00000311635.7	-	5	733	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W		NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	241					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TCCTGCCTCCCGCCGGACATC	0.557													10	5					2.17888e-05	2.24697e-05	1	0	A	87376494	C	A	87376494	3	1	319	1	0	0	0	0	1	0	0	0	5786	652	23	3	918	3	FBXO31	16	87376494	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	10821360	87376494	2978259	98	56985											
ZC3H18	124245	broad.mit.edu	37	chr16	88689626	88689626	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccgtcccgcccgccccaGgtcgtcttcgcggtcatcgt	2	9	11	19	7	2	0	1	0	1	0	7	0	4	0	5	2	0	1	5	2	0	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:88689626G>A	ENST00000301011.5	+	10	1867		c.e10-1		ZC3H18_ENST00000452588.2_Splice_Site	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18							nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCCGCCCCAGGTCGTCTTCG	0.657													24	20					0	0	0	0	A	88689626	G	A	88689626	5	1	319	1	0	0	0	0	0	0	1	0	17663	1014	35	4	1701	4	ZC3H18	16	88689626	Splice_Site	SNP	G	TCGA-CV-7430-01A-11D-2129-08	1313132	88689626	1665127	99	56986											
TP53	7157	broad.mit.edu	37	chr17	7578553	7578553	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgttgagggcaggggagTactgtaggaagaggaaggag	11	8	19	3	0	1	2	0	1	1	1	1	6	1	6	0	6	1	4	0	6	4	4			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:7578553T>C	ENST00000420246.2	-	5	509	c.375_splice	c.e5-1	p.Y126_splice	TP53_ENST00000269305.4_Splice_Site_p.Y126_splice|TP53_ENST00000455263.2_Splice_Site_p.Y126_splice|TP53_ENST00000413465.2_Splice_Site_p.Y126_splice|TP53_ENST00000445888.2_Splice_Site_p.Y126_splice|TP53_ENST00000359597.4_Splice_Site_p.Y126_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126_N131delYSPALN(3)|p.Y126fs*44(2)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAGGGGAGTACTGTAGGAA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	12					0	0	0	0	C	7578553	T	C	7578553	5	2	319	1	0	0	0	0	0	0	1	0	16476	1652	57	5	921	5	TP53	17	7578553	Splice_Site	SNP	T	TCGA-CV-7430-01A-11D-2129-08		7578553	73616657	100	56987											
MYH4	4622	broad.mit.edu	37	chr17	10369589	10369589	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcgttgaaagggtgctcaCgtagatcatccaggctgcgt	9	10	13	9	3	2	2	2	1	0	1	3	2	3	2	1	2	3	4	1	2	3	3			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:10369589C>A	ENST00000255381.2	-	4	459		c.e4+1		CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.?(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGGTGCTCACGTAGATCATC	0.433													55	99					4.88482e-21	5.59719e-21	1	0	A	10369589	C	A	10369589	5	1	319	1	0	0	0	0	0	0	1	0	10107	550	19	3	5618	3	MYH4	17	10369589	Splice_Site	SNP	C	TCGA-CV-7430-01A-11D-2129-08	2791036	10369589	70825621	101	56988											
ITGB3	3690	broad.mit.edu	37	chr17	45368453	45368453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactcaagattggagacaCggtgaggtgggctgggcagg	9	6	20	6	1	1	3	1	1	0	2	1	5	1	4	0	7	0	2	0	7	1	1	rs147758772		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:45368453C>T	ENST00000571680.1	+	9	1268	c.1259C>T	c.(1258-1260)aCg>aTg	p.T420M	ITGB3_ENST00000559488.1_Splice_Site_p.T420_splice|ITGB3_ENST00000560629.1_Splice_Site_p.H408_splice|ITGB3_ENST00000435993.2_Splice_Site_p.T373_splice			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	420					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	ATTGGAGACACGGTGAGGTGG	0.542													36	56					0	0	0	0	T	45368453	C	T	45368453	3	4	319	1	0	0	0	0	1	0	0	0	7948	550	19	1	1293	1	ITGB3	17	45368453	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	34998864	45368453	35826757	102	56989											
KCNJ2	3759	broad.mit.edu	37	chr17	68171810	68171810	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagacggcaagctgtgtttGatgtggcgagtgggcaatct	9	10	16	6	2	1	2	0	1	1	1	1	4	1	2	0	3	1	4	0	3	2	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:68171810G>A	ENST00000243457.3	+	2	1013	c.630G>A	c.(628-630)ttG>ttA	p.L210L	KCNJ2_ENST00000535240.1_Silent_p.L210L	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	210					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGCTGTGTTTGATGTGGCGAG	0.498													29	62					0	0	0	0	A	68171810	G	A	68171810	2	1	319	1	0	0	0	0	0	0	0	1	8104	1281	45	2		2	KCNJ2	17	68171810	Silent	SNP	G	TCGA-CV-7430-01A-11D-2129-08	22803357	68171810	13023400	103	56990											
CDR2L	30850	broad.mit.edu	37	chr17	72998278	72998278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagcgggaacgcaggcgtaCcatccacaccttcccctgcc	9	5	10	17	3	0	0	0	0	0	0	2	2	2	1	6	2	4	2	6	2	3	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:72998278C>T	ENST00000337231.5	+	4	873	c.461C>T	c.(460-462)aCc>aTc	p.T154I		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	154												all_lung(278;0.226)					CGCAGGCGTACCATCCACACC	0.647													4	13					0	0	0	0	T	72998278	C	T	72998278	3	4	319	1	0	0	0	0	1	0	0	0	3202	507	18	4	475	4	CDR2L	17	72998278	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	4826468	72998278	8196932	104	56991											
EVPL	2125	broad.mit.edu	37	chr17	74019475	74019475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactccgcacactcctgggtCacccgctcgtgcagctgctt	5	10	9	17	3	1	0	1	0	0	0	4	0	3	0	3	1	4	5	3	1	1	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:74019475C>T	ENST00000301607.3	-	4	631	c.378G>A	c.(376-378)gtG>gtA	p.V126V	EVPL_ENST00000586740.1_Silent_p.V126V	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	126	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ACTCCTGGGTCACCCGCTCGT	0.672													38	54					0	0	0	0	T	74019475	C	T	74019475	2	4	319	1	0	0	0	0	0	0	0	1	5330	813	29	2		2	EVPL	17	74019475	Silent	SNP	C	TCGA-CV-7430-01A-11D-2129-08	1021197	74019475	7175735	105	56992											
C17orf62	79415	broad.mit.edu	37	chr17	80401777	80401777	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgggctcaggcacaccGggaatgtgccacgggtcctg	7	6	15	13	3	1	0	1	0	0	0	2	1	2	1	3	4	2	3	3	4	1	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:80401777G>C	ENST00000336995.7	-	6	669	c.222C>G	c.(220-222)ccC>ccG	p.P74P	C17orf62_ENST00000585064.1_3'UTR|C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000578919.1_3'UTR|C17orf62_ENST00000437807.2_3'UTR|C17orf62_ENST00000583617.1_Intron|C17orf62_ENST00000577732.1_3'UTR|C17orf62_ENST00000342572.8_3'UTR			Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	0						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAGGCACACCGGGAATGTGCC	0.706													8	168					0	0	0	0	C	80401777	G	C	80401777	2	2	319	1	0	0	0	0	0	0	0	1	1885	1131	39	3		3	C17orf62	17	80401777	Silent	SNP	G	TCGA-CV-7430-01A-11D-2129-08	6382302	80401777	793433	106	56993											
ALPK2	115701	broad.mit.edu	37	chr18	56205156	56205156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagatgccttgagaacaCacctggggacatagtctcat	11	8	13	9	0	1	2	1	1	1	2	2	5	1	3	2	4	2	0	2	4	2	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr18:56205156C>T	ENST00000361673.3	-	5	2476	c.2263G>A	c.(2263-2265)Gtg>Atg	p.V755M	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	755							ATP binding|protein serine/threonine kinase activity			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						CTTGAGAACACACCTGGGGAC	0.502													6	121					0	0	0	0	T	56205156	C	T	56205156	3	4	319	1	0	0	0	0	1	0	0	0	545	478	17	4	4285	4	ALPK2	18	56205156	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08		56205156	21872092	107	56994											
ZNF791	163049	broad.mit.edu	37	chr19	12735473	12735473	+	Frame_Shift_Del	DEL	G	G	-																															ctacattttaggggaaaaatGggaagacccgaatgttgaag																										TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:12735473delG	ENST00000343325.4	+	3	302	c.140delG	c.(139-141)tgfs	p.W47fs	ZNF791_ENST00000540038.1_5'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Frame_Shift_Del_p.W15fs|ZNF791_ENST00000446165.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GGGGAAAAATGGGAAGACCCG	0.318													26	15	---	---	---	---					-	12735473	G	-	12735473	7	5	319	1	0	1	0	1	0	0	0	0	18256	1357	47	0	150	0	ZNF791	19	12735473	Frame_Shift_Del	DEL	G	TCGA-CV-7430-01A-11D-2129-08		12735473	46393510	108	56995											
MAST1	22983	broad.mit.edu	37	chr19	12975624	12975624	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatttcctggcctgcaggCggcgactgtgccaccctgct	4	9	11	17	2	0	0	0	0	0	0	1	1	1	0	5	3	3	2	5	3	0	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:12975624C>T	ENST00000251472.4	+	13	1407	c.1366_splice	c.e13-1	p.G456_splice		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	456	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGCCTGCAGGCGGCGACTGTG	0.537													21	45					0	0	0	0	T	12975624	C	T	12975624	5	4	319	1	0	0	0	0	0	0	1	0	9393	782	27	1	1418	1	MAST1	19	12975624	Splice_Site	SNP	C	TCGA-CV-7430-01A-11D-2129-08	240151	12975624	46153359	109	56996											
SLC5A5	6528	broad.mit.edu	37	chr19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtggtgggacctcgcaCggcagacagcatcagtggcc	7	8	15	11	2	1	1	1	0	0	1	2	2	1	2	2	4	1	4	2	4	0	1			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.R569W(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602													44	92					0	0	0	0	T	18001748	C	T	18001748	3	4	319	1	0	0	0	0	1	0	0	0	14756	527	19	1	1759	1	SLC5A5	19	18001748	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	5026124	18001748	41127235	110	56997											
ZNF285	26974	broad.mit.edu	37	chr19	44890792	44890792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatgccttacacttataggGcctctctcttgtgtggactc	7	14	8	12	0	2	0	0	0	2	0	4	1	2	1	2	2	2	0	2	2	3	4			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:44890792G>C	ENST00000330997.4	-	4	1679	c.1615C>G	c.(1615-1617)Ccc>Gcc	p.P539A	ZNF285_ENST00000591679.1_Missense_Mutation_p.P546A|ZNF285_ENST00000544719.2_Missense_Mutation_p.P539A|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CACTTATAGGGCCTCTCTCTT	0.438													36	27					0	0	0	0	C	44890792	G	C	44890792	3	2	319	1	0	0	0	0	1	0	0	0	17917	1203	42	4	161	4	ZNF285	19	44890792	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	26889044	44890792	14238191	111	56998											
ZNF83	55769	broad.mit.edu	37	chr19	53117347	53117347	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgtgacatattatggaaGaccttgccacattcattaca	13	12	8	8	0	1	2	1	1	0	1	1	3	1	3	2	2	2	0	2	2	4	5			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:53117347G>A	ENST00000597597.1	-	2	2724	c.471C>T	c.(469-471)gtC>gtT	p.V157V	ZNF83_ENST00000541777.2_Silent_p.V157V|ZNF83_ENST00000536937.1_Silent_p.V157V|ZNF83_ENST00000391789.4_Silent_p.V157V|ZNF83_ENST00000301096.3_Silent_p.V157V|ZNF83_ENST00000544146.1_Silent_p.V157V|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.V157V|ZNF83_ENST00000601257.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	157						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TATTATGGAAGACCTTGCCAC	0.353													28	24					0	0	0	0	A	53117347	G	A	53117347	2	1	319	1	0	0	0	0	0	0	0	1	18276	929	33	2		2	ZNF83	19	53117347	Silent	SNP	G	TCGA-CV-7430-01A-11D-2129-08	8226555	53117347	6011636	112	56999											
LILRA4	23547	broad.mit.edu	37	chr19	54850163	54850163	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccgggtcctggggcccAggctcagccctggaagagag	7	4	16	14	1	1	1	1	0	0	1	2	3	2	2	4	5	1	2	4	5	1	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:54850163A>G	ENST00000291759.4	-	2	100	c.44T>C	c.(43-45)cTg>cCg	p.L15P		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	15						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTGGGGCCCAGGCTCAGCCC	0.622											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	27					0	0	0	0	G	54850163	A	G	54850163	3	3	319	1	0	0	0	0	1	0	0	0	8841	188	7	5	1483	5	LILRA4	19	54850163	Missense_Mutation	SNP	A	TCGA-CV-7430-01A-11D-2129-08	1732816	54850163	4278820	113	57000											
RNF24	11237	broad.mit.edu	37	chr20	3914726	3914726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagctatacaatgttctctGccccaggaaggggcccctga	10	9	10	12	0	1	1	0	1	1	0	2	2	1	2	4	3	3	2	4	3	5	4			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr20:3914726G>A	ENST00000336095.5	-	6	682	c.431C>T	c.(430-432)gCa>gTa	p.A144V	RNF24_ENST00000432261.2_Missense_Mutation_p.A165V|RNF24_ENST00000358395.6_Missense_Mutation_p.A144V|RNF24_ENST00000545616.1_Missense_Mutation_p.A165V	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	144						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						AATGTTCTCTGCCCCAGGAAG	0.562													55	88					0	0	0	0	A	3914726	G	A	3914726	3	1	319	1	0	0	0	0	1	0	0	0	13569	1319	46	4	19	4	RNF24	20	3914726	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08		3914726	59110794	114	57001											
PHACTR3	116154	broad.mit.edu	37	chr20	58349395	58349395	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggcaaggagagggaggagGcttggagctttgacggggca	9	5	22	5	1	0	2	0	1	0	1	0	6	0	5	0	9	1	4	0	9	1	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr20:58349395G>C	ENST00000371015.1	+	7	1491	c.1024G>C	c.(1024-1026)Gct>Cct	p.A342P	PHACTR3_ENST00000361300.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A301P|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A301P|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A339P|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A301P|PHACTR3_ENST00000395639.4_Missense_Mutation_p.A231P	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	342						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAGGGAGGAGGCTTGGAGCTT	0.512													37	70					0	0	0	0	C	58349395	G	C	58349395	3	2	319	1	0	0	0	0	1	0	0	0	11883	1203	42	4	1050	4	PHACTR3	20	58349395	Missense_Mutation	SNP	G	TCGA-CV-7430-01A-11D-2129-08	54434669	58349395	4676125	115	57002											
TCFL5	10732	broad.mit.edu	37	chr20	61488812	61488812	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcctccctggggcccactCtgggcctgctcccccaggtt	2	10	10	19	0	1	0	0	0	1	0	4	0	4	0	6	4	1	2	6	4	0	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr20:61488812C>T	ENST00000335351.3	-	4	1265	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	TCFL5_ENST00000217162.5_Silent_p.Q343Q	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	391					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GGGGCCCACTCTGGGCCTGCT	0.572													137	40					0	0	0	0	T	61488812	C	T	61488812	2	4	319	1	0	0	0	0	0	0	0	1	15793	912	32	2		2	TCFL5	20	61488812	Silent	SNP	C	TCGA-CV-7430-01A-11D-2129-08	3139417	61488812	1536708	116	57003											
DSCAM	1826	broad.mit.edu	37	chr21	41684252	41684252	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgctgcccaatggagaaTcttggaaactcaaagggttg	12	8	11	10	1	2	1	1	0	1	1	2	3	2	2	2	3	2	2	2	3	4	2			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr21:41684252T>C	ENST00000400454.1	-	9	2295	c.1818A>G	c.(1816-1818)agA>agG	p.R606R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	606	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAATGGAGAATCTTGGAAACT	0.478													16	42					0	0	0	0	C	41684252	T	C	41684252	2	2	319	1	0	0	0	0	0	0	0	1	4804	1432	50	5		5	DSCAM	21	41684252	Silent	SNP	T	TCGA-CV-7430-01A-11D-2129-08		41684252	6445643	117	57004											
MYO18B	84700	broad.mit.edu	37	chr22	26242142	26242142	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggcaggcctggagggCacctcccagcaggccctgca	6	5	15	15	0	0	0	0	0	0	0	1	1	1	1	4	5	2	5	4	5	0	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr22:26242142C>G	ENST00000335473.7	+	19	3694	c.3444C>G	c.(3442-3444)ggC>ggG	p.G1148G	MYO18B_ENST00000407587.2_Silent_p.G1149G|MYO18B_ENST00000536101.1_Silent_p.G1148G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1148	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCTGGAGGGCACCTCCCAGC	0.667													9	15					0	0	0	0	G	26242142	C	G	26242142	2	3	319	1	0	0	0	0	0	0	0	1	10136	697	25	4		4	MYO18B	22	26242142	Silent	SNP	C	TCGA-CV-7430-01A-11D-2129-08		26242142	25062424	118	57005											
ADM2	79924	broad.mit.edu	37	chr22	50921172	50921172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgggcccccgaagacactCgggcccccgcaggacccaag	8	2	12	19	4	0	1	0	0	0	1	2	3	0	2	5	3	0	1	5	3	2	0			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr22:50921172C>T	ENST00000395738.2	+	2	579	c.287C>T	c.(286-288)tCg>tTg	p.S96L	ADM2_ENST00000362068.2_Missense_Mutation_p.R13W|ADM2_ENST00000395737.1_Missense_Mutation_p.S96L	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	96					positive regulation of angiogenesis	extracellular region	hormone activity			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAGACACTCGGGCCCCCGC	0.697													11	7					0	0	0	0	T	50921172	C	T	50921172	3	4	319	1	0	0	0	0	1	0	0	0	322	893	31	1	293	1	ADM2	22	50921172	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	24679030	50921172	383394	119	57006											
CNKSR2	22866	broad.mit.edu	37	chrX	21515965	21515965	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactggaaccacagaaaatGtaagtattctaacctttcaa	16	12	5	8	0	2	1	1	0	1	1	2	2	2	2	2	1	3	2	2	1	8	6			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chrX:21515965G>A	ENST00000425654.2	+	7	1221		c.e7+1		CNKSR2_ENST00000379510.3_Splice_Site|CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2						regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CACAGAAAATGTAAGTATTCT	0.308													15	8					0	0	0	0	A	21515965	G	A	21515965	5	1	319	1	0	0	0	0	0	0	1	0	3637	1391	48	4	768	4	CNKSR2	23	21515965	Splice_Site	SNP	G	TCGA-CV-7430-01A-11D-2129-08		21515965	133754595	120	57007											
GAGE2D	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																										TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													11	21	---	---	---	---					TAT	49208296	-	TAT	49208295	7	5	319	1	0	1	1	0	0	0	0	0	6241	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-CV-7430-01A-11D-2129-08	27692330	49208295	106062265	121	57008											
NXF3	56000	broad.mit.edu	37	chrX	102337236	102337236	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactgggcttctgtccgcAcacttctctcctggctctat	5	13	7	16	1	3	0	0	0	3	0	6	0	5	0	2	2	0	3	2	2	1	3			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chrX:102337236A>C	ENST00000395065.3	-	9	938	c.837T>G	c.(835-837)tgT>tgG	p.C279W	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.C190W	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	279						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTCTGTCCGCACACTTCTCTC	0.532													8	109					0	0	0	0	C	102337236	A	C	102337236	3	2	319	1	0	0	0	0	1	0	0	0	10856	157	6	5	802	5	NXF3	23	102337236	Missense_Mutation	SNP	A	TCGA-CV-7430-01A-11D-2129-08	53128941	102337236	52933324	122	57009											
BCORL1	63035	broad.mit.edu	37	chrX	129146962	129146962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagtggcagcaatgccCggggggcagacccagatggc	9	5	17	10	1	0	2	0	0	0	2	0	3	0	3	2	6	2	3	2	6	2	1	rs141901231	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chrX:129146962C>T	ENST00000540052.1	+	3	258	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000218147.7_Missense_Mutation_p.R72W|BCORL1_ENST00000303743.5_Missense_Mutation_p.R72W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R72W	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	72					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCAATGCCCGGGGGGCAGA	0.567													6	99					0	0	0	0	T	129146962	C	T	129146962	3	4	319	1	0	0	0	0	1	0	0	0	1391	643	23	1	224	1	BCORL1	23	129146962	Missense_Mutation	SNP	C	TCGA-CV-7430-01A-11D-2129-08	26809726	129146962	26123598	123	57010											
KIAA1522	57648	broad.mit.edu	37	chr1	33237322	33237322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagctcctgctagttccGccccagggcatgtggccaag	6	7	11	17	1	0	0	0	0	0	0	2	0	2	0	7	2	2	4	7	2	2	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:33237322G>A	ENST00000401073.2	+	6	2612	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T	KIAA1522_ENST00000373481.3_Missense_Mutation_p.A800T|KIAA1522_ENST00000373480.1_Missense_Mutation_p.A789T|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	789	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCTAGTTCCGCCCCAGGGCA	0.677													3	31					0	0	0	0	A	33237322	G	A	33237322	3	1	320	1	0	0	0	0	1	0	0	0	8289	1087	38	1	2564	1	KIAA1522	1	33237322	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08		33237322	216013299	1	57011											
C1orf87	127795	broad.mit.edu	37	chr1	60503714	60503714	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctcaggtctgcagctgcTttattttgctgtggataatc	6	18	9	8	0	2	0	1	0	2	0	4	1	2	1	0	2	4	4	0	2	2	6			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:60503714T>A	ENST00000371201.3	-	6	920	c.813A>T	c.(811-813)aaA>aaT	p.K271N	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	271							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCAGCTGCTTTATTTTGCT	0.383													19	38					0	0	0	0	A	60503714	T	A	60503714	3	1	320	1	0	0	0	0	1	0	0	0	2084	1606	56	5	855	5	C1orf87	1	60503714	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	27266392	60503714	188746907	2	57012											
BRDT	676	broad.mit.edu	37	chr1	92459659	92459659	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataggatattgtgtgcaagAcacaacctctgccaatacta	14	10	8	9	0	1	1	0	0	1	1	1	3	1	2	2	1	4	1	2	1	7	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:92459659A>G	ENST00000370389.2	+	15	2840	c.1916A>G	c.(1915-1917)gAc>gGc	p.D639G	BRDT_ENST00000362005.3_Missense_Mutation_p.D712G|BRDT_ENST00000402388.1_Missense_Mutation_p.D712G|BRDT_ENST00000399546.2_Missense_Mutation_p.D712G|BRDT_ENST00000394530.3_Missense_Mutation_p.D666G	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	712	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TGTGTGCAAGACACAACCTCT	0.348													41	76					0	0	0	0	G	92459659	A	G	92459659	3	3	320	1	0	0	0	0	1	0	0	0	1516	275	10	5	2189	5	BRDT	1	92459659	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	31955945	92459659	156790962	3	57013											
KIAA0907	22889	broad.mit.edu	37	chr1	155891296	155891296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggcactatgcttggtactCcgtagggaggttgaactggc	7	11	15	8	1	0	1	0	1	0	0	1	2	1	2	1	5	3	5	1	5	4	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:155891296C>T	ENST00000368320.3	-	10	1161	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Silent_p.R345R|KIAA0907_ENST00000368321.3_Missense_Mutation_p.G379E			Q7Z7F0	K0907_HUMAN	KIAA0907	379	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCTTGGTACTCCGTAGGGAGG	0.517													25	63					0	0	0	0	T	155891296	C	T	155891296	3	4	320	1	0	0	0	0	1	0	0	0	8250	855	30	2	728	2	KIAA0907	1	155891296	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	63431637	155891296	93359325	4	57014											
OR10K1	391109	broad.mit.edu	37	chr1	158435777	158435777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggacatggggtgtgtatGggactaatggctgctgcctg	7	11	17	6	0	0	0	0	0	0	0	0	2	0	2	1	5	2	3	1	5	2	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:158435777G>A	ENST00000289451.2	+	1	506	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GGGTGTGTATGGGACTAATGG	0.562													62	121					0	0	0	0	A	158435777	G	A	158435777	3	1	320	1	0	0	0	0	1	0	0	0	10984	1348	47	4	428	4	OR10K1	1	158435777	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	2544481	158435777	90814844	5	57015											
TNN	63923	broad.mit.edu	37	chr1	175063297	175063297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagcagcactgtcctgaCgggcctgaagccaggagagg	10	5	16	10	1	0	4	0	3	0	2	1	6	1	4	3	3	3	2	3	3	1	0	rs17374761		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:175063297C>T	ENST00000239462.4	+	7	1609	c.1496C>T	c.(1495-1497)aCg>aTg	p.T499M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	499	Fibronectin type-III 3.		T -> M (in dbSNP:rs17374761).		cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACTGTCCTGACGGGCCTGAAG	0.547													16	32					0	0	0	0	T	175063297	C	T	175063297	3	4	320	1	0	0	0	0	1	0	0	0	16417	536	19	1	1518	1	TNN	1	175063297	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	16627520	175063297	74187324	6	57016											
SLC41A1	254428	broad.mit.edu	37	chr1	205764562	205764562	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattcatgtgcaggaaggTggagatgcggctggcctgca	8	9	15	9	1	1	1	1	0	0	1	2	3	2	2	2	5	3	3	2	5	1	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:205764562T>A	ENST00000367137.3	-	9	2131	c.1117A>T	c.(1117-1119)Acc>Tcc	p.T373S	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	373						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGCAGGAAGGTGGAGATGCGG	0.587													19	29					0	0	0	0	A	205764562	T	A	205764562	3	1	320	1	0	0	0	0	1	0	0	0	14717	1696	59	5	436	5	SLC41A1	1	205764562	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	30701265	205764562	43486059	7	57017											
RYR2	6262	broad.mit.edu	37	chr1	237982376	237982376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgttggagttcgtgctggagGagggatcggggatgaaatcg	8	10	19	4	3	0	1	0	1	0	0	3	6	0	6	0	6	1	3	0	6	1	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:237982376G>A	ENST00000366574.2	+	101	14791	c.14474G>A	c.(14473-14475)gGa>gAa	p.G4825E	RYR2_ENST00000542537.1_Missense_Mutation_p.G4809E|RYR2_ENST00000360064.6_Missense_Mutation_p.G4831E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4825					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGTGCTGGAGGAGGGATCGGG	0.408													15	37					0	0	0	0	A	237982376	G	A	237982376	3	1	320	1	0	0	0	0	1	0	0	0	13854	1174	41	2	14876	2	RYR2	1	237982376	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	32217814	237982376	11268245	8	57018											
RGS7	6000	broad.mit.edu	37	chr1	240975267	240975267	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaatttaaggaactgttCtctcccaactgggtctttca	11	14	7	9	0	3	1	1	0	2	1	5	2	4	2	1	2	2	1	1	2	5	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:240975267C>A	ENST00000366565.1	-	14	1414	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	RGS7_ENST00000331110.7_Nonsense_Mutation_p.E319*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.E345*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.E345*|RGS7_ENST00000348120.2_Nonsense_Mutation_p.E292*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.E292*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.E345*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.E345*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.E261*	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	345	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AGGAACTGTTCTCTCCCAACT	0.413													33	84					4.3181e-19	5.16756e-19	1	0	A	240975267	C	A	240975267	4	1	320	1	0	0	0	0	0	1	0	0	13393	922	32	2	450	2	RGS7	1	240975267	Nonsense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	2992891	240975267	8275354	9	57019											
REG3G	130120	broad.mit.edu	37	chr2	79255001	79255001	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaattactttgcatgggaGaaaaatccctccaccatctt	13	12	6	10	0	1	2	0	1	1	1	3	3	3	2	3	1	2	1	3	1	4	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:79255001G>A	ENST00000272324.5	+	5	586	c.402G>A	c.(400-402)gaG>gaA	p.E134E	REG3G_ENST00000393897.2_Silent_p.E134E|REG3G_ENST00000409471.1_Silent_p.E88E	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	134	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGCATGGGAGAAAAATCCCT	0.507													36	41					0	0	0	0	A	79255001	G	A	79255001	2	1	320	1	0	0	0	0	0	0	0	1	13295	933	33	2		2	REG3G	2	79255001	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08		79255001	163944372	10	57020											
ANAPC1	64682	broad.mit.edu	37	chr2	112608465	112608465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagagagggagctggcagtCcaggaataaaaacctttccc	13	7	11	10	0	1	1	1	0	0	1	3	4	3	3	3	3	2	2	3	3	4	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:112608465C>A	ENST00000341068.3	-	14	2310	c.1538G>T	c.(1537-1539)gGa>gTa	p.G513V		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	513					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AGCTGGCAGTCCAGGAATAAA	0.398													16	46					5.01169e-05	5.17717e-05	1	0	A	112608465	C	A	112608465	3	1	320	1	0	0	0	0	1	0	0	0	598	855	30	2	4436	2	ANAPC1	2	112608465	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	33353464	112608465	130590908	11	57021											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257667	114257667	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcggcccccgcctatgcCggggcaccgaagaaagcaga	9	4	12	16	4	1	2	0	0	1	2	2	3	1	2	5	3	2	2	5	3	3	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:114257667C>A	ENST00000306507.5	+	1	1007	c.834C>A	c.(832-834)gcC>gcA	p.A278A		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	278	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CCGCCTATGCCGGGGCACCGA	0.701													24	29					2.61193e-14	3.0106e-14	1	0	A	114257667	C	A	114257667	2	1	320	1	0	0	0	0	0	0	0	1	6045	639	23	3		3	FOXD4L1	2	114257667	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08	1649202	114257667	128941706	12	57022											
DPP10	57628	broad.mit.edu	37	chr2	116485420	116485420	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgaaaataatatctactAtcaacctgatataaagagca	18	13	4	6	0	2	3	1	2	1	1	2	3	2	3	1	0	3	1	1	0	10	8			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:116485420A>G	ENST00000410059.1	+	8	1085	c.605A>G	c.(604-606)tAt>tGt	p.Y202C	DPP10_ENST00000409163.1_Missense_Mutation_p.Y152C|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.Y206C|DPP10_ENST00000310323.8_Missense_Mutation_p.Y195C	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	202					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATATCTACTATCAACCTGAT	0.313													7	32					0	0	0	0	G	116485420	A	G	116485420	3	3	320	1	0	0	0	0	1	0	0	0	4763	449	16	5	806	5	DPP10	2	116485420	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	2227753	116485420	126713953	13	57023											
LRP1B	53353	broad.mit.edu	37	chr2	141771236	141771236	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaaaaatggaaccattcaTataatcagtccagaacacat	18	10	5	8	0	2	2	2	1	0	1	3	3	3	3	2	1	2	0	2	1	6	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:141771236T>G	ENST00000389484.3	-	14	3240	c.2269A>C	c.(2269-2271)Atg>Ctg	p.M757L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	757					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAACCATTCATATAATCAGTC	0.393										TSP Lung(27;0.18)			33	78					0	0	0	0	G	141771236	T	G	141771236	3	3	320	1	0	0	0	0	1	0	0	0	9019	1406	49	5	11842	5	LRP1B	2	141771236	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	25285816	141771236	101428137	14	57024											
GALNT13	114805	broad.mit.edu	37	chr2	155102432	155102432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taactggaaactgaatttccGctggtatcctgttccccaaa	11	12	7	11	1	0	1	0	1	0	0	3	2	3	2	4	2	2	3	4	2	5	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:155102432G>A	ENST00000392825.3	+	7	1361	c.794G>A	c.(793-795)cGc>cAc	p.R265H	GALNT13_ENST00000409237.1_Missense_Mutation_p.R265H	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	265						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CTGAATTTCCGCTGGTATCCT	0.403													22	47					0	0	0	0	A	155102432	G	A	155102432	3	1	320	1	0	0	0	0	1	0	0	0	6260	1087	38	1	812	1	GALNT13	2	155102432	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	13331196	155102432	88096941	15	57025											
SCN1A	6323	broad.mit.edu	37	chr2	166852534	166852534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acttcttactcctggtcgagGtataggcttttgcggttttt	5	18	10	8	2	1	0	0	0	1	0	3	1	2	0	1	4	2	3	1	4	3	8	rs143088184		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:166852534G>T	ENST00000423058.2	-	24	4587	c.4570C>A	c.(4570-4572)Cct>Act	p.P1524T	SCN1A_ENST00000409050.1_Missense_Mutation_p.P1496T|SCN1A_ENST00000303395.4_Missense_Mutation_p.P1524T|SCN1A_ENST00000375405.3_Missense_Mutation_p.P1513T|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1524						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCTGGTCGAGGTATAGGCTTT	0.338													22	69					2.39556e-15	2.79058e-15	1	0	T	166852534	G	T	166852534	3	4	320	1	0	0	0	0	1	0	0	0	14001	1261	44	4	1471	4	SCN1A	2	166852534	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	11750102	166852534	76346839	16	57026											
XIRP2	129446	broad.mit.edu	37	chr2	168114998	168114998	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgagtgaagctgaagacAcaaagagtaacaggaaaagt	18	4	13	6	1	0	4	0	2	0	2	0	6	0	5	1	2	2	2	1	2	6	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:168114998A>C	ENST00000409728.1	+	11	2130	c.2041A>C	c.(2041-2043)Aca>Cca	p.T681P	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.T648P|XIRP2_ENST00000409043.1_Missense_Mutation_p.T648P|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.T426P|XIRP2_ENST00000420519.1_Missense_Mutation_p.T681P|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2759					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						AGCTGAAGACACAAAGAGTAA	0.358													15	34					0	0	0	0	C	168114998	A	C	168114998	3	2	320	1	0	0	0	0	1	0	0	0	17526	159	6	5	11359	5	XIRP2	2	168114998	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	1262464	168114998	75084375	17	57027											
LRP2	4036	broad.mit.edu	37	chr2	170063445	170063445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagttctctccattgataCgaatccttgcaattatatct	11	15	5	10	1	2	2	0	1	2	1	5	3	4	2	2	0	2	2	2	0	5	6			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:170063445C>T	ENST00000263816.3	-	39	7070	c.6785G>A	c.(6784-6786)cGt>cAt	p.R2262H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2262					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCATTGATACGAATCCTTGC	0.433													35	107					0	0	0	0	T	170063445	C	T	170063445	3	4	320	1	0	0	0	0	1	0	0	0	9020	536	19	1	7346	1	LRP2	2	170063445	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	1948447	170063445	73135928	18	57028											
TLK1	9874	broad.mit.edu	37	chr2	171853218	171853224	+	Frame_Shift_Del	DEL	AATATTG	AATATTG	-																															actggacttctgtggcttttAatattgtattttcttgaaga																										TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:171853218_171853224delAATATTG	ENST00000442919.2	-	20	2534_2540	c.1919_1925delCAATATT	c.(1918-1926)aafs	p.TIL640fs	TLK1_ENST00000431350.2_Frame_Shift_Del_p.TIL688fs|TLK1_ENST00000434911.2_Frame_Shift_Del_p.TIL592fs|TLK1_ENST00000360843.3_Frame_Shift_Del_p.TIL709fs|TLK1_ENST00000521943.1_Frame_Shift_Del_p.TIL640fs	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	688	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGTGGCTTTTAATATTGTATTTTCTTG	0.3													21	66	---	---	---	---					-	171853224	AATATTG	-	171853218	7	5	320	1	0	1	0	1	0	0	0	0	16037	372	13	0	239	0	TLK1	2	171853218	Frame_Shift_Del	DEL	AATATTG	TCGA-CV-7432-01A-11D-2129-08	1789773	171853218	71346155	19	57029											
TTN	7273	broad.mit.edu	37	chr2	179457503	179457503	+	Splice_Site	DEL	A	A	-																															gtgagagcattttactcaccAagcctgtcttttactaggac																										TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:179457503delA	ENST00000589042.1	-	300	59567	c.59344_splice	c.e300+1	p.L19781_splice	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.L17213_splice|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.L10841_splice|TTN_ENST00000342175.6_Splice_Site_p.L10908_splice|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.L18140_splice|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.L10716_splice	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18140	Fibronectin type-III 43.						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)			TTTACTCACCAAGCCTGTCTT	0.413													47	78	---	---	---	---					-	179457503	A	-	179457503	8	5	320	1	0	1	0	1	0	0	1	0	16831	144	5	0	48888	0	TTN	2	179457503	Splice_Site	DEL	A	TCGA-CV-7432-01A-11D-2129-08	7604285	179457503	63741870	20	57030											
TTN	7273	broad.mit.edu	37	chr2	179587087	179587087	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcagtttgcaaaatttttAaagttgccacattatctaca	14	15	5	7	0	2	0	1	0	1	0	2	0	2	0	1	0	3	3	1	0	6	7			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:179587087A>G	ENST00000589042.1	-	77	22651	c.22427T>C	c.(22426-22428)tTa>tCa	p.L7476S	TTN_ENST00000342992.6_Missense_Mutation_p.L6232S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.L7159S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7159							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)			CAAAATTTTTAAAGTTGCCAC	0.423													13	28					0	0	0	0	G	179587087	A	G	179587087	3	3	320	1	0	0	0	0	1	0	0	0	16831	372	13	5	82246	5	TTN	2	179587087	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	129584	179587087	63612286	21	57031											
CCDC108	255101	broad.mit.edu	37	chr2	219886544	219886544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggctgccctgctccaGgtagaggcggtaatagaggg	8	7	16	10	1	1	2	1	0	0	2	2	2	2	2	2	5	2	4	2	5	3	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:219886544G>T	ENST00000341552.5	-	18	3171	c.3088C>A	c.(3088-3090)Ctg>Atg	p.L1030M	CCDC108_ENST00000453220.1_Missense_Mutation_p.L1030M|CCDC108_ENST00000441968.1_Missense_Mutation_p.L1030M	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1030						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTGCTCCAGGTAGAGGCGG	0.602													79	114					2.43828e-56	2.99991e-56	1	0	T	219886544	G	T	219886544	3	4	320	1	0	0	0	0	1	0	0	0	2768	991	35	4	2761	4	CCDC108	2	219886544	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	40299457	219886544	23312829	22	57032											
COL4A3	1285	broad.mit.edu	37	chr2	228148997	228148997	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagggggaacaaggagataaAggaaatcccgggccttcaga	16	4	14	7	1	1	2	1	0	0	2	2	5	2	4	2	5	1	0	2	5	6	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:228148997A>G	ENST00000396578.3	+	34	2979	c.2817A>G	c.(2815-2817)aaA>aaG	p.K939K	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	939	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGAGATAAAGGAAATCCCG	0.502													13	30					0	0	0	0	G	228148997	A	G	228148997	2	3	320	1	0	0	0	0	0	0	0	1	3721	69	3	5		5	COL4A3	2	228148997	Silent	SNP	A	TCGA-CV-7432-01A-11D-2129-08	8262453	228148997	15050376	23	57033											
ILKAP	80895	broad.mit.edu	37	chr2	239090740	239090740	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccttctgtatcctcatccGctcttcatactgagttggat	7	15	7	12	1	4	1	2	1	2	0	6	2	6	2	3	1	2	3	3	1	2	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:239090740G>T	ENST00000254654.3	-	9	977	c.802C>A	c.(802-804)Cgg>Agg	p.R268R		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	268	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		ATCCTCATCCGCTCTTCATAC	0.498													84	187					2.56433e-40	3.13736e-40	1	0	T	239090740	G	T	239090740	2	4	320	1	0	0	0	0	0	0	0	1	7767	1086	38	3		3	ILKAP	2	239090740	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08	10941743	239090740	4108633	24	57034											
NUP210	23225	broad.mit.edu	37	chr3	13370375	13370375	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcattcccaaaggcacggcCaccagggcctccttgttctg	7	9	10	15	1	2	0	1	0	1	0	4	0	4	0	5	3	0	2	5	3	1	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:13370375C>T	ENST00000254508.5	-	31	4264	c.4182G>A	c.(4180-4182)gtG>gtA	p.V1394V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1394					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AAGGCACGGCCACCAGGGCCT	0.537													26	19					0	0	0	0	T	13370375	C	T	13370375	2	4	320	1	0	0	0	0	0	0	0	1	10831	581	21	4		4	NUP210	3	13370375	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08		13370375	184652055	25	57035											
PTPRG	5793	broad.mit.edu	37	chr3	62254758	62254758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaacagtgaggaatatggaAacattattgtcacgctgaag	16	9	11	5	1	1	3	1	2	0	1	1	5	1	5	0	2	2	1	0	2	6	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:62254758A>G	ENST00000474889.1	+	20	3300	c.2923A>G	c.(2923-2925)Aac>Gac	p.N975D	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.N946D|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	975	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGAATATGGAAACATTATTGT	0.363													28	20					0	0	0	0	G	62254758	A	G	62254758	3	3	320	1	0	0	0	0	1	0	0	0	12884	14	1	5	3001	5	PTPRG	3	62254758	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	48884383	62254758	135767672	26	57036											
EPHA3	2042	broad.mit.edu	37	chr3	89390133	89390133	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctaagtgcccgcctcacagTtctactcaggaagatggttc	9	10	10	12	1	3	1	2	0	1	1	4	2	3	2	2	2	2	3	2	2	3	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:89390133T>G	ENST00000336596.2	+	4	1107	c.882T>G	c.(880-882)agT>agG	p.S294R	EPHA3_ENST00000494014.1_Missense_Mutation_p.S294R|EPHA3_ENST00000452448.2_Missense_Mutation_p.S294R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	294	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGCCTCACAGTTCTACTCAGG	0.443										TSP Lung(6;0.00050)			30	84					0	0	0	0	G	89390133	T	G	89390133	3	3	320	1	0	0	0	0	1	0	0	0	5206	1722	60	5	896	5	EPHA3	3	89390133	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	27135375	89390133	108632297	27	57037											
PLA1A	51365	broad.mit.edu	37	chr3	119343977	119343977	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggtttcctagtgcatcAcagcctcgtggagtttcact	6	15	9	11	1	2	0	2	0	0	0	4	1	3	1	2	2	2	3	2	2	1	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:119343977A>T	ENST00000273371.4	+	9	1091	c.1019A>T	c.(1018-1020)cAc>cTc	p.H340L	PLA1A_ENST00000488919.1_Missense_Mutation_p.H167L|PLA1A_ENST00000495992.1_Missense_Mutation_p.H324L|PLA1A_ENST00000494440.1_Missense_Mutation_p.H324L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	340					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTAGTGCATCACAGCCTCGTG	0.498													19	34					0	0	0	0	T	119343977	A	T	119343977	3	4	320	1	0	0	0	0	1	0	0	0	12060	159	6	5	1053	5	PLA1A	3	119343977	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	29953844	119343977	78678453	28	57038											
MYLK	4638	broad.mit.edu	37	chr3	123512632	123512632	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaactcttgagggatcCacactgagggaggttttgga	10	10	14	7	0	2	2	1	2	1	0	3	6	3	5	1	4	1	1	1	4	1	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:123512632C>T	ENST00000360772.3	-	5	435	c.57G>A	c.(55-57)gtG>gtA	p.V19V	MYLK_ENST00000359169.1_Silent_p.V19V|MYLK_ENST00000475616.1_Silent_p.V19V|MYLK_ENST00000360304.3_Silent_p.V19V|MYLK_ENST00000346322.5_Silent_p.V19V			Q15746	MYLK_HUMAN	myosin light chain kinase	19					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGAGGGATCCACACTGAGGG	0.532													11	36					0	0	0	0	T	123512632	C	T	123512632	2	4	320	1	0	0	0	0	0	0	0	1	10126	581	21	4		4	MYLK	3	123512632	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08	4168655	123512632	74509798	29	57039											
GMPS	8833	broad.mit.edu	37	chr3	155633846	155633846	+	Silent	SNP	A	A	T																															ggagaaatgaacttgaaaccAgaggaggttttccttgccca																										TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:155633846A>T	ENST00000496455.1	+	9	1412	c.1077A>T	c.(1075-1077)ccA>ccT	p.P359P	GMPS_ENST00000295920.7_Silent_p.P260P	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	359					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTTGAAACCAGAGGAGGTTT	0.378			T	MLL	AML								9	33					0	0	0	0	T	155633846	A	T	155633846	2	4	320	1	0	0	0	0	0	0	0	1	6549	175	7	5		5	GMPS	3	155633846	Silent	SNP	A	TCGA-CV-7432-01A-11D-2129-08	32121214	155633846	42388584	30	57040	464	2									
GMPS	8833	broad.mit.edu	37	chr3	155633847	155633847	+	Missense_Mutation	SNP	G	G	A																															gagaaatgaacttgaaaccaGaggaggttttccttgcccaa																										TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:155633847G>A	ENST00000496455.1	+	9	1413	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	GMPS_ENST00000295920.7_Missense_Mutation_p.E261K	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	360					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTGAAACCAGAGGAGGTTTT	0.378			T	MLL	AML								9	32					0	0	0	0	A	155633847	G	A	155633847	3	1	320	1	0	0	0	0	1	0	0	0	6549	943	33	2	1112	2	GMPS	3	155633847	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	1	155633847	42388583	31	57041	464	2									
ABCC5	10057	broad.mit.edu	37	chr3	183655818	183655818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagataactccaccagaCggaagagggccatccccagc	12	4	9	16	1	0	3	0	0	0	3	3	4	3	4	6	2	2	0	6	2	2	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:183655818C>T	ENST00000334444.6	-	26	3965	c.3725G>A	c.(3724-3726)cGt>cAt	p.R1242H	ABCC5_ENST00000265586.6_Missense_Mutation_p.R1199H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1242	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCCACCAGACGGAAGAGGGC	0.502													6	92					0	0	0	0	T	183655818	C	T	183655818	3	4	320	1	0	0	0	0	1	0	0	0	56	536	19	1	608	1	ABCC5	3	183655818	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	28021971	183655818	14366612	32	57042											
PCYT1A	5130	broad.mit.edu	37	chr3	195966589	195966589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttgtcaaccctctcctgCaagtggtatttcttctccta	7	16	5	13	0	4	0	1	0	3	0	6	0	4	0	3	1	2	2	3	1	4	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:195966589C>A	ENST00000292823.2	-	9	898	c.726G>T	c.(724-726)ttG>ttT	p.L242F	PCYT1A_ENST00000419333.1_Missense_Mutation_p.L242F|PCYT1A_ENST00000431016.1_Missense_Mutation_p.L242F	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	242	Amphipathic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	CCCTCTCCTGCAAGTGGTATT	0.368													22	82					4.16121e-05	4.31898e-05	1	0	A	195966589	C	A	195966589	3	1	320	1	0	0	0	0	1	0	0	0	11681	709	25	4	385	4	PCYT1A	3	195966589	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	12310771	195966589	2055841	33	57043											
STK32B	55351	broad.mit.edu	37	chr4	5448436	5448436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgtacatggacagaggccCcggatactcgtaccctgtcg	8	8	13	12	3	0	1	0	0	0	1	2	3	0	3	3	4	3	2	3	4	3	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:5448436C>T	ENST00000282908.5	+	7	1021	c.599C>T	c.(598-600)cCc>cTc	p.P200L	STK32B_ENST00000512636.1_Missense_Mutation_p.P123L|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.P153L	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	200	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GACAGAGGCCCCGGATACTCG	0.572													24	27					0	0	0	0	T	5448436	C	T	5448436	3	4	320	1	0	0	0	0	1	0	0	0	15388	623	22	4	625	4	STK32B	4	5448436	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08		5448436	185705840	34	57044											
GBA3	57733	broad.mit.edu	37	chr4	22749519	22749519	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaagaagagaagaaaaTgatcaaaggcactgctgatt	18	7	10	6	0	1	6	1	3	0	3	1	7	1	6	0	1	1	2	0	1	6	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:22749519T>C	ENST00000511446.1	+	0	890				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						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						GAGAAGAAAATGATCAAAGGC	0.403													8	6					0	0	0	0	C	22749519	T	C	22749519	1	2	320	0	1	0	0	0	0	0	0	0	6317	1464	51	5		5	GBA3	4	22749519	RNA	SNP	T	TCGA-CV-7432-01A-11D-2129-08	17301083	22749519	168404757	35	57045											
ARAP2	116984	broad.mit.edu	37	chr4	36122929	36122929	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgggcattcatgtgattgaTttctgagcatttctgaaccc	9	15	9	8	0	3	4	1	4	2	0	3	4	3	4	1	1	2	2	1	1	1	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:36122929T>C	ENST00000303965.4	-	23	4255	c.3766A>G	c.(3766-3768)Atc>Gtc	p.I1256V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1256	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ATGTGATTGATTTCTGAGCAT	0.343													45	48					0	0	0	0	C	36122929	T	C	36122929	3	2	320	1	0	0	0	0	1	0	0	0	841	1493	52	5	1392	5	ARAP2	4	36122929	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	13373410	36122929	155031347	36	57046											
LPHN3	23284	broad.mit.edu	37	chr4	62679537	62679537	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccacagggcaggcacaTcatggacaagtttcatacat	12	8	11	10	0	2	0	2	0	0	0	3	1	3	1	1	4	1	3	1	4	2	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:62679537T>A	ENST00000512091.1	+	8	1953	c.1206T>A	c.(1204-1206)caT>caA	p.H402Q	LPHN3_ENST00000504896.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.H470Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	402					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ggcaggcacatcatggacaag	0.353													6	53					0	0	0	0	A	62679537	T	A	62679537	3	1	320	1	0	0	0	0	1	0	0	0	8981	1432	50	5	1228	5	LPHN3	4	62679537	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	26556608	62679537	128474739	37	57047											
PDHA2	5161	broad.mit.edu	37	chr4	96762054	96762054	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattttatccctgggctaaaGgtcgatggaatggatgttct	10	14	11	6	1	1	0	0	0	1	0	3	3	2	2	1	4	0	2	1	4	5	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:96762054G>A	ENST00000295266.4	+	1	816	c.753G>A	c.(751-753)aaG>aaA	p.K251K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	251					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTGGGCTAAAGGTCGATGGAA	0.463													13	63					0	0	0	0	A	96762054	G	A	96762054	2	1	320	1	0	0	0	0	0	0	0	1	11736	991	35	4		4	PDHA2	4	96762054	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08	34082517	96762054	94392222	38	57048											
GUCY1A3	2982	broad.mit.edu	37	chr4	156643246	156643246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcgttggagttaaaatGccccgttactgtctttttgg	6	15	12	8	3	1	0	0	0	1	0	2	1	1	1	2	3	2	3	2	3	3	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:156643246G>A	ENST00000296518.7	+	9	1982	c.1773G>A	c.(1771-1773)atG>atA	p.M591I	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.M591I|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.M333I|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.M591I|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.M591I|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.M591I|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.M591I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	591	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAGTTAAAATGCCCCGTTACT	0.423													115	129					0	0	0	0	A	156643246	G	A	156643246	3	1	320	1	0	0	0	0	1	0	0	0	6944	1319	46	4	1814	4	GUCY1A3	4	156643246	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	59881192	156643246	34511030	39	57049											
ADCY2	108	broad.mit.edu	37	chr5	7717334	7717334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgattcaagcaattgatGggattaatgcacagaagtga	15	10	12	4	0	1	4	1	3	0	1	1	6	1	6	0	2	2	2	0	2	4	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:7717334G>A	ENST00000338316.4	+	12	1776	c.1687G>A	c.(1687-1689)Ggg>Agg	p.G563R	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.G383R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	563					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCAATTGATGGGATTAATGC	0.308													22	62					0	0	0	0	A	7717334	G	A	7717334	3	1	320	1	0	0	0	0	1	0	0	0	294	1348	47	4	1733	4	ADCY2	5	7717334	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08		7717334	173197926	40	57050											
CTNND2	1501	broad.mit.edu	37	chr5	11023090	11023090	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcgcatggcgtatttGcctggaaaagaaaataaaga	15	9	11	6	2	1	2	0	0	1	2	2	3	1	3	1	3	1	2	1	3	7	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:11023090G>T	ENST00000304623.8	-	17	2979	c.2788_splice	c.e17-1	p.G930_splice	CTNND2_ENST00000503622.1_Splice_Site_p.G593_splice|CTNND2_ENST00000359640.2_Splice_Site_p.G872_splice|CTNND2_ENST00000458100.2_Splice_Site_p.G497_splice|CTNND2_ENST00000511377.1_Splice_Site_p.G839_splice|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	930					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCGTATTTGCCTGGAAAAG	0.507													12	35					0.00185496	0.00188072	1	0	T	11023090	G	T	11023090	5	4	320	1	0	0	0	0	0	0	1	0	4052	1333	46	4	911	4	CTNND2	5	11023090	Splice_Site	SNP	G	TCGA-CV-7432-01A-11D-2129-08	3305756	11023090	169892170	41	57051											
FAM105A	54491	broad.mit.edu	37	chr5	14608915	14608915	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaagtatgtgcaacacccTtttttcagatgccattctgg	10	13	9	9	0	2	1	1	0	1	1	2	2	2	2	2	2	3	2	2	2	3	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:14608915T>G	ENST00000274217.3	+	7	806	c.686T>G	c.(685-687)cTt>cGt	p.L229R		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	229								p.S231fs*13(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGCAACACCCTTTTTTCAGAT	0.328													16	38					0	0	0	0	G	14608915	T	G	14608915	3	3	320	1	0	0	0	0	1	0	0	0	5428	1609	56	5	712	5	FAM105A	5	14608915	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	3585825	14608915	166306345	42	57052											
CDH6	1004	broad.mit.edu	37	chr5	31316322	31316322	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgtgacagataatccAaagcaaagtagtcgagtacc	14	10	10	7	1	0	2	0	1	0	1	2	3	1	2	2	1	2	4	2	1	5	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:31316322A>G	ENST00000265071.2	+	9	1663	c.1398A>G	c.(1396-1398)ccA>ccG	p.P466P	CDH6_ENST00000514738.1_Silent_p.P411P	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	466	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGATAATCCAAAGCAAAGTA	0.368													12	44					0	0	0	0	G	31316322	A	G	31316322	2	3	320	1	0	0	0	0	0	0	0	1	3143	117	5	5		5	CDH6	5	31316322	Silent	SNP	A	TCGA-CV-7432-01A-11D-2129-08	16707407	31316322	149598938	43	57053											
SLC45A2	51151	broad.mit.edu	37	chr5	33982466	33982466	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagaacgacacctatcAtggtgacacttatggcccaa	15	7	8	11	1	1	2	1	1	0	1	1	4	1	2	2	2	1	0	2	2	5	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:33982466A>C	ENST00000382102.3	-	2	494	c.437T>G	c.(436-438)aTg>aGg	p.M146R	SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000296589.4_Missense_Mutation_p.M146R|SLC45A2_ENST00000509381.1_Missense_Mutation_p.M146R|SLC45A2_ENST00000345083.5_Missense_Mutation_p.M146R	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	146					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GACACCTATCATGGTGACACT	0.433													19	50					0	0	0	0	C	33982466	A	C	33982466	3	2	320	1	0	0	0	0	1	0	0	0	14729	217	8	5	1194	5	SLC45A2	5	33982466	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	2666144	33982466	146932794	44	57054											
LIFR	3977	broad.mit.edu	37	chr5	38489306	38489306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttactaatatcgaatctgCagaagtatcctcaacagtaa	15	13	5	8	1	2	1	1	0	1	1	4	2	3	1	1	0	3	3	1	0	8	6			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:38489306C>T	ENST00000263409.4	-	16	2371	c.2209G>A	c.(2209-2211)Gca>Aca	p.A737T	LIFR_ENST00000453190.2_Missense_Mutation_p.A737T	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	737	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATCGAATCTGCAGAAGTATCC	0.358			T	PLAG1	salivary adenoma								9	48					0	0	0	0	T	38489306	C	T	38489306	3	4	320	1	0	0	0	0	1	0	0	0	8834	710	25	4	1104	4	LIFR	5	38489306	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	4506840	38489306	142425954	45	57055											
HTR1A	3350	broad.mit.edu	37	chr5	63256467	63256467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagagccacgatgaagaaGggcagccagcagaggatgaa	17	2	14	8	1	0	5	0	2	0	3	0	7	0	6	2	2	3	2	2	2	4	0			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:63256467G>A	ENST00000323865.3	-	1	1313	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	360					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CGATGAAGAAGGGCAGCCAGC	0.597													35	132					0	0	0	0	A	63256467	G	A	63256467	2	1	320	1	0	0	0	0	0	0	0	1	7489	987	35	4		4	HTR1A	5	63256467	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08	24767161	63256467	117658793	46	57056											
VCAN	1462	broad.mit.edu	37	chr5	82817564	82817564	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaaacagaaggtagtagtAcaacaggatttacatcatct	17	10	8	6	0	2	2	1	1	1	1	2	3	2	3	0	2	4	3	0	2	7	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:82817564A>G	ENST00000265077.3	+	7	4004	c.3439A>G	c.(3439-3441)Aca>Gca	p.T1147A	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.T1147A|VCAN_ENST00000512590.2_Missense_Mutation_p.T1099A|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1147	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGGTAGTAGTACAACAGGATT	0.388													38	55					0	0	0	0	G	82817564	A	G	82817564	3	3	320	1	0	0	0	0	1	0	0	0	17234	391	14	5	3461	5	VCAN	5	82817564	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	19561097	82817564	98097696	47	57057											
TTC37	9652	broad.mit.edu	37	chr5	94852669	94852669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcattcatgttgctgcctGtttctgctagatgttgtgct	5	18	10	8	0	3	1	2	0	1	1	3	2	3	1	1	0	4	6	1	0	1	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:94852669G>A	ENST00000358746.2	-	22	2685	c.2387C>T	c.(2386-2388)aCa>aTa	p.T796I		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	796							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GTTGCTGCCTGTTTCTGCTAG	0.333													7	21					0	0	0	0	A	94852669	G	A	94852669	3	1	320	1	0	0	0	0	1	0	0	0	16801	1377	48	4	2395	4	TTC37	5	94852669	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	12035105	94852669	86062591	48	57058											
PCSK1	5122	broad.mit.edu	37	chr5	95746664	95746664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtttcccgaagcccagacGaagatggaccccttcccctg	8	7	9	17	3	0	2	0	0	0	2	2	5	2	3	7	1	1	1	7	1	2	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:95746664G>A	ENST00000311106.3	-	8	1146	c.909C>T	c.(907-909)ttC>ttT	p.F303F	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.F256F|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	303	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGCCCAGACGAAGATGGACC	0.498													14	145					0	0	0	0	A	95746664	G	A	95746664	2	1	320	1	0	0	0	0	0	0	0	1	11671	1049	37	1		1	PCSK1	5	95746664	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08	893995	95746664	85168596	49	57059											
FBN2	2201	broad.mit.edu	37	chr5	127638678	127638678	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacttacccaggcaatcattAttatgagtgagttcaaaccc	13	12	6	10	0	2	2	2	2	0	0	2	2	2	2	2	1	3	2	2	1	6	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:127638678A>C	ENST00000508053.1	-	52	6878	c.5904T>G	c.(5902-5904)aaT>aaG	p.N1968K	FBN2_ENST00000262464.4_Missense_Mutation_p.N1968K			P35556	FBN2_HUMAN	fibrillin 2	1968	EGF-like 32; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCAATCATTATTATGAGTGA	0.373													41	91					0	0	0	0	C	127638678	A	C	127638678	3	2	320	1	0	0	0	0	1	0	0	0	5748	446	16	5	2914	5	FBN2	5	127638678	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	31892014	127638678	53276582	50	57060											
RAPGEF6	51735	broad.mit.edu	37	chr5	130883877	130883878	+	Frame_Shift_Ins	INS	-	-	C																															tcttcattatctttggcattINSctctacctgaaacacatgtt																										TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:130883877_130883878insC	ENST00000509018.1	-	6	562_563	c.357_358insG	c.(355-360)gaatgcfs	p.C120fs	RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.C120fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.C120fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.C120fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.C120fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.C120fs|FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.C170fs|RAPGEF6_ENST00000503398.2_5'UTR	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	120					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCTTTGGCATTCTCTACCTGAA	0.342													13	55	---	---	---	---					C	130883878	-	C	130883877	7	5	320	1	0	1	1	0	0	0	0	0	13130	1783	62	0	5025	0	RAPGEF6	5	130883877	Frame_Shift_Ins	INS	-	TCGA-CV-7432-01A-11D-2129-08	3245199	130883877	50031383	51	57061											
PCDHA13	56136	broad.mit.edu	37	chr5	140261865	140261865	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtaccatgctgtcttcCtggcaaggaggcccaagacc	9	8	12	12	0	1	1	0	0	1	1	2	3	2	2	4	3	2	3	4	3	3	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140261865C>T	ENST00000289272.2	+	1	12	c.12C>T	c.(10-12)tcC>tcT	p.S4S	PCDHA13_ENST00000409494.1_Silent_p.S4S|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGTCTTCCTGGCAAGGAG	0.542													49	151					0	0	0	0	T	140261865	C	T	140261865	2	4	320	1	0	0	0	0	0	0	0	1	11594	668	24	4		4	PCDHA13	5	140261865	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08	9377988	140261865	40653395	52	57062											
PCDHA13	56136	broad.mit.edu	37	chr5	140262129	140262129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaattctcggatcgaccgCgaggagctgtgtgggcggag	7	8	18	8	5	1	1	0	1	1	0	3	6	1	4	1	4	1	1	1	4	1	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140262129C>T	ENST00000289272.2	+	1	276	c.276C>T	c.(274-276)cgC>cgT	p.R92R	PCDHA13_ENST00000409494.1_Silent_p.R92R|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGCGAGGAGCTGT	0.587													17	284					0	0	0	0	T	140262129	C	T	140262129	2	4	320	1	0	0	0	0	0	0	0	1	11594	755	27	1		1	PCDHA13	5	140262129	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08	264	140262129	40653131	53	57063											
PCDHB3	56132	broad.mit.edu	37	chr5	140480873	140480873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcagcttaacgctcaccGcgctggacggcggctctccc	7	7	10	17	5	3	0	2	0	1	0	4	1	3	1	2	3	3	4	2	3	2	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140480873G>A	ENST00000231130.2	+	1	640	c.640G>A	c.(640-642)Gcg>Acg	p.A214T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		214	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGCTCACCGCGCTGGACGG	0.562													18	51					0	0	0	0	A	140480873	G	A	140480873	3	1	320	1	0	0	0	0	1	0	0	0	11614	1087	38	1	642	1	PCDHB3	5	140480873	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	218744	140480873	40434387	54	57064											
PCDHB14	56122	broad.mit.edu	37	chr5	140605137	140605137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccaggccgactccctcaCcgtctacctggtggtggcat	5	8	12	16	2	2	0	1	0	1	0	3	1	3	0	5	5	1	1	5	5	1	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140605137C>T	ENST00000239449.4	+	1	2060	c.2060C>T	c.(2059-2061)aCc>aTc	p.T687I	PCDHB14_ENST00000515856.2_Missense_Mutation_p.T534I	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		687					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTCCCTCACCGTCTACCTG	0.711													75	115					0	0	0	0	T	140605137	C	T	140605137	3	4	320	1	0	0	0	0	1	0	0	0	11610	507	18	4	2062	4	PCDHB14	5	140605137	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	124264	140605137	40310123	55	57065											
CDX1	1044	broad.mit.edu	37	chr5	149562461	149562461	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagctggctgccaatctgggGctcactgaacggcaggtgtg	7	8	16	10	1	2	1	1	1	1	0	2	2	2	1	1	5	3	4	1	5	2	0			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:149562461G>A	ENST00000231656.8	+	2	658	c.576G>A	c.(574-576)ggG>ggA	p.G192G		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	192						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAATCTGGGGCTCACTGAAC	0.562													40	81					0	0	0	0	A	149562461	G	A	149562461	2	1	320	1	0	0	0	0	0	0	0	1	3211	1190	42	4		4	CDX1	5	149562461	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08	8957324	149562461	31352799	56	57066											
GRIA1	2890	broad.mit.edu	37	chr5	153175081	153175081	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaactcagtgagcaaggcgtCttagacaagctgaaaagcaa	17	6	10	8	1	2	3	1	2	1	1	2	3	2	3	0	1	4	3	0	1	7	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:153175081C>G	ENST00000340592.5	+	14	2389	c.2316C>G	c.(2314-2316)gtC>gtG	p.V772V	GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000448073.4_Silent_p.V782V|GRIA1_ENST00000285900.5_Intron|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000518142.1_Intron	NM_001114183.1|NM_001258020.1	NP_001107655.1|NP_001244949.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	772					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGCAAGGCGTCTTAGACAAGC	0.448													15	29					0	0	0	0	G	153175081	C	G	153175081	2	3	320	1	0	0	0	0	0	0	0	1	6817	900	32	2		2	GRIA1	5	153175081	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08	3612620	153175081	27740179	57	57067											
CYFIP2	26999	broad.mit.edu	37	chr5	156721850	156721850	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtacacctggcgcagctGttcccgggccattcccaggt	5	9	12	15	2	0	0	0	0	0	0	2	0	2	0	4	3	2	5	4	3	1	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:156721850G>C	ENST00000347377.6	+	4	697	c.266G>C	c.(265-267)tGt>tCt	p.C89S	CYFIP2_ENST00000318218.6_Missense_Mutation_p.C89S|CYFIP2_ENST00000377576.3_Missense_Mutation_p.C89S|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Intron	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	89					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGCAGCTGTTCCCGGGCC	0.537													11	18					0	0	0	0	C	156721850	G	C	156721850	3	2	320	1	0	0	0	0	1	0	0	0	4170	1377	48	4	276	4	CYFIP2	5	156721850	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	3546769	156721850	24193410	58	57068											
CYFIP2	26999	broad.mit.edu	37	chr5	156738742	156738742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggttcagatccgggatGaccacatccgcttcatctcc	9	10	9	13	2	3	3	2	1	1	2	6	4	5	4	4	2	0	2	4	2	0	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:156738742G>T	ENST00000347377.6	+	11	1494	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y	CYFIP2_ENST00000318218.6_Missense_Mutation_p.D355Y|CYFIP2_ENST00000377576.3_Missense_Mutation_p.D355Y|CYFIP2_ENST00000521420.1_Missense_Mutation_p.D329Y|CYFIP2_ENST00000541131.1_Missense_Mutation_p.D280Y|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.D29Y|CYFIP2_ENST00000522463.1_Missense_Mutation_p.D159Y	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	355					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATCCGGGATGACCACATCCG	0.612													5	10					5.9392e-07	6.43903e-07	1	0	T	156738742	G	T	156738742	3	4	320	1	0	0	0	0	1	0	0	0	4170	1290	45	2	1101	2	CYFIP2	5	156738742	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	16892	156738742	24176518	59	57069											
SLIT3	6586	broad.mit.edu	37	chr5	168123340	168123340	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgtagttgttgatcccGtccacgcaggtggcattgtt	7	12	11	11	3	0	1	0	1	0	0	2	1	2	1	2	2	0	6	2	2	1	5	rs79266600	by1000genomes	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:168123340G>A	ENST00000519560.1	-	28	3458	c.3039C>T	c.(3037-3039)gaC>gaT	p.D1013D	SLIT3_ENST00000332966.8_Silent_p.D1020D|SLIT3_ENST00000404867.3_Silent_p.D1013D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1013	EGF-like 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTGATCCCGTCCACGCAGG	0.532													24	78					0	0	0	0	A	168123340	G	A	168123340	2	1	320	1	0	0	0	0	0	0	0	1	14829	1136	40	1		1	SLIT3	5	168123340	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08	11384598	168123340	12791920	60	57070											
DOCK2	1794	broad.mit.edu	37	chr5	169461497	169461497	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctggagaagctgctggatTaccggggtgtgatgacagat	9	10	15	7	1	0	4	0	2	0	2	1	6	1	5	2	4	3	2	2	4	2	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:169461497T>A	ENST00000256935.8	+	35	3642	c.3562T>A	c.(3562-3564)Tac>Aac	p.Y1188N	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.Y680N|DOCK2_ENST00000540750.1_Missense_Mutation_p.Y249N	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1188	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGCTGGATTACCGGGGTGT	0.587													7	59					0	0	0	0	A	169461497	T	A	169461497	3	1	320	1	0	0	0	0	1	0	0	0	4723	1754	61	5	3700	5	DOCK2	5	169461497	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	1338157	169461497	11453763	61	57071											
FAF2	23197	broad.mit.edu	37	chr5	175913486	175913486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtctcaagacctcaacCaagggcaagttatttcatag	12	12	8	9	0	3	1	3	0	1	1	4	1	3	1	2	1	1	3	2	1	6	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:175913486C>T	ENST00000261942.6	+	3	316	c.263C>T	c.(262-264)cCa>cTa	p.P88L	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	88					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGACCTCAACCAAGGGCAAGT	0.433													16	62					0	0	0	0	T	175913486	C	T	175913486	3	4	320	1	0	0	0	0	1	0	0	0	5411	594	21	4	273	4	FAF2	5	175913486	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	6451989	175913486	5001774	62	57072											
SCGN	10590	broad.mit.edu	37	chr6	25689756	25689756	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatctttgcctactatgAtgttgtaagtgtgcgtcttt	9	17	9	6	1	2	1	0	1	2	0	2	2	2	1	1	0	3	2	1	0	5	6	rs143515197		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:25689756A>T	ENST00000377961.2	+	9	797	c.629A>T	c.(628-630)gAt>gTt	p.D210V	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	210	EF-hand 5.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCCTACTATGATGTTGTAAGT	0.398													38	88					0	0	0	0	T	25689756	A	T	25689756	3	4	320	1	0	0	0	0	1	0	0	0	13990	333	12	5	663	5	SCGN	6	25689756	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08		25689756	145425311	63	57073											
PI16	221476	broad.mit.edu	37	chr6	36930839	36930839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttccctagcaacggggattCcggctttcttggtaacagag	8	11	11	11	2	1	1	0	0	1	1	3	2	3	2	2	4	3	3	2	4	3	6			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:36930839C>T	ENST00000373674.3	+	5	1049	c.721C>T	c.(721-723)Ccg>Tcg	p.P241S	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	241						extracellular region|integral to membrane	peptidase inhibitor activity	p.P241S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AACGGGGATTCCGGCTTTCTT	0.562													42	90					0	0	0	0	T	36930839	C	T	36930839	3	4	320	1	0	0	0	0	1	0	0	0	11941	855	30	2	739	2	PI16	6	36930839	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	11241083	36930839	134184228	64	57074											
PGK2	5232	broad.mit.edu	37	chr6	49753700	49753700	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattttaccttccagaagctCtagactggcaccgcctccag	9	10	8	14	1	1	2	0	0	1	2	3	3	3	2	5	1	2	2	5	1	3	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:49753700C>A	ENST00000304801.3	-	1	1353	c.1201G>T	c.(1201-1203)Gag>Tag	p.E401*		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	401					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCCAGAAGCTCTAGACTGGCA	0.473													33	86					1.06801e-11	1.2182e-11	1	0	A	49753700	C	A	49753700	4	1	320	1	0	0	0	0	0	1	0	0	11863	922	32	2	56	2	PGK2	6	49753700	Nonsense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	12822861	49753700	121361367	65	57075											
LRRC1	55227	broad.mit.edu	37	chr6	53787549	53787549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggactggactcaaacaaaaaCgaggtcaatcatgccattga	16	7	9	9	1	3	1	3	1	0	0	3	4	3	3	1	3	3	0	1	3	4	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:53787549C>T	ENST00000370888.1	+	14	1810	c.1533C>T	c.(1531-1533)aaC>aaT	p.N511N		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	511						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CAAACAAAAACGAGGTCAATC	0.473													41	233					0	0	0	0	T	53787549	C	T	53787549	2	4	320	1	0	0	0	0	0	0	0	1	9030	535	19	1		1	LRRC1	6	53787549	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08	4033849	53787549	117327518	66	57076											
DOPEY1	23033	broad.mit.edu	37	chr6	83820000	83820000	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctttctatggaagatcaActttatataattggcagtga	14	14	8	5	0	2	2	1	1	1	1	2	3	2	3	0	2	2	2	0	2	7	7			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:83820000A>T	ENST00000349129.2	+	6	908	c.648A>T	c.(646-648)caA>caT	p.Q216H	DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q216H|DOPEY1_ENST00000536812.1_Missense_Mutation_p.Q216H|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q216H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	216					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGGAAGATCAACTTTATATAA	0.403													80	152					0	0	0	0	T	83820000	A	T	83820000	3	4	320	1	0	0	0	0	1	0	0	0	4743	40	2	5	662	5	DOPEY1	6	83820000	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	30032451	83820000	87295067	67	57077											
GJA10	84694	broad.mit.edu	37	chr6	90604421	90604421	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atctctttgatcaggttctgGgttttacagatcatctttgt	7	19	8	7	0	5	2	2	1	3	1	6	2	5	2	0	2	1	2	0	2	1	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:90604421G>A	ENST00000369352.1	+	1	234	c.234G>A	c.(232-234)tgG>tgA	p.W78*		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	78					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCAGGTTCTGGGTTTTACAGA	0.453													15	54					0	0	0	0	A	90604421	G	A	90604421	4	1	320	1	0	0	0	0	0	1	0	0	6452	1241	43	4	236	4	GJA10	6	90604421	Nonsense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	6784421	90604421	80510646	68	57078											
KIAA1919	91749	broad.mit.edu	37	chr6	111587184	111587184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttttggctccactgctagCtaaactggctttgggtccga	6	14	10	11	1	0	0	0	0	0	0	2	1	2	0	2	3	3	4	2	3	3	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:111587184C>A	ENST00000368847.4	+	4	772	c.419C>A	c.(418-420)gCt>gAt	p.A140D		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	140					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CCACTGCTAGCTAAACTGGCT	0.507													5	47					1.23904e-05	1.29214e-05	1	0	A	111587184	C	A	111587184	3	1	320	1	0	0	0	0	1	0	0	0	8313	797	28	4	433	4	KIAA1919	6	111587184	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	20982763	111587184	59527883	69	57079											
REV3L	5980	broad.mit.edu	37	chr6	111695451	111695451	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatatctgtgtattctgTgctacctgagataaatgatt	12	15	9	5	0	2	3	0	2	2	2	2	5	2	3	1	0	2	2	1	0	6	6			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:111695451T>C	ENST00000435970.1	-	15	4689	c.3873A>G	c.(3871-3873)gcA>gcG	p.A1291A	REV3L_ENST00000368802.3_Silent_p.A1369A|REV3L_ENST00000368805.1_Silent_p.A1369A|REV3L_ENST00000358835.3_Silent_p.A1369A			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1369					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTGTATTCTGTGCTACCTGAG	0.303								DNA polymerases (catalytic subunits)					38	68					0	0	0	0	C	111695451	T	C	111695451	2	2	320	1	0	0	0	0	0	0	0	1	13322	1683	59	5		5	REV3L	6	111695451	Silent	SNP	T	TCGA-CV-7432-01A-11D-2129-08	108267	111695451	59419616	70	57080											
NMBR	4829	broad.mit.edu	37	chr6	142399733	142399733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattctccaggaagattgtGtgcgcttttaattaaggtct	9	16	10	6	1	2	1	0	0	2	1	3	2	2	2	1	2	1	2	1	2	4	6			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:142399733G>T	ENST00000258042.1	-	2	870	c.730C>A	c.(730-732)Cac>Aac	p.H244N		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	244					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GGAAGATTGTGTGCGCTTTTA	0.358													17	39					3.52763e-06	3.75025e-06	1	0	T	142399733	G	T	142399733	3	4	320	1	0	0	0	0	1	0	0	0	10557	1377	48	4	450	4	NMBR	6	142399733	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	30704282	142399733	28715334	71	57081											
UTRN	7402	broad.mit.edu	37	chr6	144844227	144844227	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagccagatgtcatccttGaagcctctggacctgaagcc	11	8	9	13	0	2	3	1	2	1	1	3	4	3	4	5	1	4	0	5	1	3	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:144844227G>T	ENST00000367545.3	+	40	5809	c.5809G>T	c.(5809-5811)Gaa>Taa	p.E1937*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1937					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGTCATCCTTGAAGCCTCTGG	0.383													19	56					2.5808e-16	3.05511e-16	1	0	T	144844227	G	T	144844227	4	4	320	1	0	0	0	0	0	1	0	0	17199	1291	45	2	5967	2	UTRN	6	144844227	Nonsense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	2444494	144844227	26270840	72	57082											
SYNE1	23345	broad.mit.edu	37	chr6	152786398	152786398	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaccaatcttaccttttTggcattttctgattgattga	10	18	6	7	0	2	4	0	4	2	0	2	4	2	4	2	1	2	1	2	1	3	7			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:152786398T>A	ENST00000367255.5	-	18	2528	c.1927A>T	c.(1927-1929)Aaa>Taa	p.K643*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.K650*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.K650*|SYNE1_ENST00000466159.2_Nonsense_Mutation_p.K643*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.K643*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.K633*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.K650*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.K643*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.K643*|SYNE1_ENST00000495090.2_Nonsense_Mutation_p.K210*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	643					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTACCTTTTTGGCATTTTCT	0.403										HNSCC(10;0.0054)			34	84					0	0	0	0	A	152786398	T	A	152786398	4	1	320	1	0	0	0	0	0	1	0	0	15536	1821	63	5	25055	5	SYNE1	6	152786398	Nonsense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	7942171	152786398	18328669	73	57083											
DAGLB	221955	broad.mit.edu	37	chr7	6452471	6452471	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgcagtgcgcgaccactcGcaagattcttctcttcagat	9	12	8	12	3	3	2	1	0	2	2	5	3	3	2	1	0	2	2	1	0	1	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:6452471G>A	ENST00000297056.6	-	13	1709	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*	DAGLB_ENST00000425398.2_Nonsense_Mutation_p.R385*|DAGLB_ENST00000436575.1_Nonsense_Mutation_p.R473*|DAGLB_ENST00000428902.2_Missense_Mutation_p.A373V	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	514					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GCGACCACTCGCAAGATTCTT	0.592													3	14					0	0	0	0	A	6452471	G	A	6452471	4	1	320	1	0	0	0	0	0	1	0	0	4260	1095	38	1	490	1	DAGLB	7	6452471	Nonsense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08		6452471	152686192	74	57084											
THSD7A	221981	broad.mit.edu	37	chr7	11676534	11676534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagcacaccacacagccCtcgtttggatgcctccggga	9	7	10	15	2	0	1	0	1	0	0	2	3	1	3	4	2	3	2	4	2	0	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:11676534C>A	ENST00000423059.3	-	2	496	c.245G>T	c.(244-246)aGg>aTg	p.R82M	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	82	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCACACAGCCCTCGTTTGGAT	0.463										HNSCC(18;0.044)			30	81					2.28855e-06	2.44484e-06	1	0	A	11676534	C	A	11676534	3	1	320	1	0	0	0	0	1	0	0	0	15973	681	24	4	4832	4	THSD7A	7	11676534	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	5224063	11676534	147462129	75	57085											
MPP6	51678	broad.mit.edu	37	chr7	24708126	24708126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcatttagaatttgatCgtcatgaaatccagatatat	13	18	5	5	1	2	4	2	2	0	2	4	4	3	4	1	0	0	0	1	0	5	7			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:24708126C>A	ENST00000396475.2	+	10	1260	c.961C>A	c.(961-963)Cgt>Agt	p.R321S	MPP6_ENST00000409761.1_Missense_Mutation_p.R209S|MPP6_ENST00000222644.4_Missense_Mutation_p.R321S	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	321					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AGAATTTGATCGTCATGAAAT	0.368													13	23					9.31168e-06	9.75721e-06	1	0	A	24708126	C	A	24708126	3	1	320	1	0	0	0	0	1	0	0	0	9808	884	31	3	991	3	MPP6	7	24708126	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	13031592	24708126	134430537	76	57086											
COBL	23242	broad.mit.edu	37	chr7	51287530	51287530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcctccttcatgcgaacCaagttctgctgcgacccgag	8	8	10	15	4	2	0	1	0	1	0	3	3	3	0	4	0	5	2	4	0	2	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:51287530C>G	ENST00000395542.2	-	2	337	c.153G>C	c.(151-153)ttG>ttC	p.L51F	COBL_ENST00000265136.7_Missense_Mutation_p.L51F|COBL_ENST00000441453.1_Missense_Mutation_p.L51F|COBL_ENST00000395540.2_Missense_Mutation_p.L51F			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	51										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCATGCGAACCAAGTTCTGCT	0.642													5	72					0	0	0	0	G	51287530	C	G	51287530	3	3	320	1	0	0	0	0	1	0	0	0	3683	593	21	4	3680	4	COBL	7	51287530	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	26579404	51287530	107851133	77	57087											
ABCB1	5243	broad.mit.edu	37	chr7	87135328	87135328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggccaccagagagctgaGttcctttgtctcctacttta	7	14	8	12	0	2	2	0	1	2	1	4	3	3	2	4	1	2	2	4	1	2	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:87135328G>A	ENST00000265724.3	-	28	3938	c.3521C>T	c.(3520-3522)aCt>aTt	p.T1174I	ABCB1_ENST00000543898.1_Missense_Mutation_p.T1110I|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1174	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGAGAGCTGAGTTCCTTTGTC	0.403													32	55					0	0	0	0	A	87135328	G	A	87135328	3	1	320	1	0	0	0	0	1	0	0	0	40	1029	36	4	329	4	ABCB1	7	87135328	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	35847798	87135328	72003335	78	57088											
DYNC1I1	1780	broad.mit.edu	37	chr7	95439771	95439771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcgcaaacgacgagagaCagaggctttgctgcaaagca	14	5	13	9	3	0	2	0	0	0	2	1	6	0	3	0	2	4	5	0	2	2	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:95439771C>G	ENST00000324972.6	+	3	369	c.176C>G	c.(175-177)aCa>aGa	p.T59R	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.T59R|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.T59R|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.T59R|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.T59R|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.T59R|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.T59R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	59	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CGACGAGAGACAGAGGCTTTG	0.453													5	35					0	0	0	0	G	95439771	C	G	95439771	3	3	320	1	0	0	0	0	1	0	0	0	4878	478	17	4	182	4	DYNC1I1	7	95439771	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	8304443	95439771	63698892	79	57089											
CFTR	1080	broad.mit.edu	37	chr7	117235095	117235095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgctaatttggtgcttaGtaatttttctggcagaggta	8	18	11	4	0	1	1	0	0	1	1	1	1	1	1	0	3	2	5	0	3	4	8			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:117235095G>A	ENST00000003084.6	+	15	2734	c.2602G>A	c.(2602-2604)Gta>Ata	p.V868I	CFTR_ENST00000454343.1_Missense_Mutation_p.V807I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	868	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTGGTGCTTAGTAATTTTTCT	0.333									Cystic Fibrosis				17	36					0	0	0	0	A	117235095	G	A	117235095	3	1	320	1	0	0	0	0	1	0	0	0	3323	1029	36	4	2660	4	CFTR	7	117235095	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	21795324	117235095	41903568	80	57090											
CHRM2	1129	broad.mit.edu	37	chr7	136700564	136700564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgggccattccaaagatGagaactctaagcaaacatgc	14	7	8	12	0	1	2	0	1	1	2	2	3	2	2	3	1	4	1	3	1	4	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:136700564G>A	ENST00000445907.2	+	3	1480	c.952G>A	c.(952-954)Gag>Aag	p.E318K	CHRM2_ENST00000453373.1_Missense_Mutation_p.E318K|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.E318K|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.E318K|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.E318K|CHRM2_ENST00000397608.3_Missense_Mutation_p.E318K	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	318					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.E318K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TTCCAAAGATGAGAACTCTAA	0.468													33	74					0	0	0	0	A	136700564	G	A	136700564	3	1	320	1	0	0	0	0	1	0	0	0	3406	1291	45	2	954	2	CHRM2	7	136700564	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	19465469	136700564	22438099	81	57091											
SSPO	23145	broad.mit.edu	37	chr7	149493814	149493814	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaggagggctgtgtgttGctgcctgagggcactggcag	6	9	19	7	0	0	2	0	2	0	0	0	4	0	3	1	4	2	5	1	4	0	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:149493814G>A	ENST00000378016.2	+	0	6810							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGTGTGTTGCTGCCTGAGG	0.652													4	10					0	0	0	0	A	149493814	G	A	149493814	1	1	320	0	1	0	0	0	0	0	0	0	15279	1310	46	4		4	SSPO	7	149493814	RNA	SNP	G	TCGA-CV-7432-01A-11D-2129-08	12793250	149493814	9644849	82	57092											
MYOM2	9172	broad.mit.edu	37	chr8	2024315	2024315	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcgtgacctggaagccGcccaacaccaccactgagag	11	5	10	15	2	1	2	1	2	0	1	2	4	1	3	5	1	2	0	5	1	2	0			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:2024315G>A	ENST00000262113.4	+	11	1356	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	405	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGGAAGCCGCCCAACACCA	0.622													10	18					0	0	0	0	A	2024315	G	A	2024315	2	1	320	1	0	0	0	0	0	0	0	1	10162	1074	38	1		1	MYOM2	8	2024315	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08		2024315	144339707	83	57093											
CSMD1	64478	broad.mit.edu	37	chr8	2820134	2820134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactaagtcgcccttctgcgGggatgccagggtctccgcag	6	8	13	14	3	2	0	0	0	2	0	4	1	2	1	3	3	2	1	3	3	1	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:2820134G>A	ENST00000602557.1	-	62	10040	c.9485C>T	c.(9484-9486)cCc>cTc	p.P3162L	CSMD1_ENST00000602723.1_Missense_Mutation_p.P2985L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2984L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P3161L|CSMD1_ENST00000520002.1_Missense_Mutation_p.P3162L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2985L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3162	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCTTCTGCGGGGATGCCAGG	0.493													9	28					0	0	0	0	A	2820134	G	A	2820134	3	1	320	1	0	0	0	0	1	0	0	0	3976	1232	43	4	1252	4	CSMD1	8	2820134	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	795819	2820134	143543888	84	57094											
NECAB1	64168	broad.mit.edu	37	chr8	91929769	91929769	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgtaactagatttttatTgaaggaaaccctgaatcagc	14	13	7	7	1	1	3	1	2	0	1	2	4	1	4	1	1	3	1	1	1	6	7			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:91929769T>A	ENST00000417640.2	+	6	744	c.407T>A	c.(406-408)tTg>tAg	p.L136*		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	136					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			AGATTTTTATTGAAGGAAACC	0.403													15	31					0	0	0	0	A	91929769	T	A	91929769	4	1	320	1	0	0	0	0	0	1	0	0	10374	1821	63	5	429	5	NECAB1	8	91929769	Nonsense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	89109635	91929769	54434253	85	57095											
TSPYL5	85453	broad.mit.edu	37	chr8	98290055	98290055	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcgggaggactttcgaccCcgacttcggccgctcatggt	5	8	14	14	6	1	0	1	0	0	0	3	4	1	2	3	4	0	1	3	4	0	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:98290055C>A	ENST00000322128.3	-	1	121	c.18G>T	c.(16-18)cgG>cgT	p.R6R		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	6					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					ACTTTCGACCCCGACTTCGGC	0.706													7	6					3.09899e-07	3.39339e-07	1	0	A	98290055	C	A	98290055	2	1	320	1	0	0	0	0	0	0	0	1	16757	610	22	4		4	TSPYL5	8	98290055	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08	6360286	98290055	48073967	86	57096											
ABRA	137735	broad.mit.edu	37	chr8	107782189	107782189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggcgactttggggcaCtctgagctttctggtgtgaa	5	12	17	7	1	2	2	0	2	2	0	2	3	2	2	0	6	1	2	0	6	1	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:107782189C>A	ENST00000311955.3	-	1	284	c.230G>T	c.(229-231)aGt>aTt	p.S77I		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	77					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	p.S77I(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTTGGGGCACTCTGAGCTTT	0.572													31	89					3.11337e-16	3.66575e-16	1	0	A	107782189	C	A	107782189	3	1	320	1	0	0	0	0	1	0	0	0	100	565	20	4	923	4	ABRA	8	107782189	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	9492134	107782189	38581833	87	57097											
PTK2	5747	broad.mit.edu	37	chr8	141900746	141900746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatactcgctccattgcacCaggagaacgttccataccag	12	9	7	13	2	0	1	0	0	0	1	3	2	2	1	4	1	4	3	4	1	4	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:141900746C>A	ENST00000522684.1	-	3	320	c.91G>T	c.(91-93)Ggt>Tgt	p.G31C	PTK2_ENST00000340930.3_Missense_Mutation_p.G31C|PTK2_ENST00000519419.1_Missense_Mutation_p.G75C|PTK2_ENST00000521059.1_Missense_Mutation_p.G31C|PTK2_ENST00000395218.2_Missense_Mutation_p.G31C|PTK2_ENST00000517887.1_Missense_Mutation_p.G75C|PTK2_ENST00000535192.1_Missense_Mutation_p.G31C|PTK2_ENST00000520892.1_Missense_Mutation_p.G31C|PTK2_ENST00000519881.1_Missense_Mutation_p.G31C	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	31					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCCATTGCACCAGGAGAACGT	0.443													27	76					1.1804e-14	1.36776e-14	1	0	A	141900746	C	A	141900746	3	1	320	1	0	0	0	0	1	0	0	0	12842	594	21	4	3187	4	PTK2	8	141900746	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	34118557	141900746	4463276	88	57098											
ZNF623	9831	broad.mit.edu	37	chr8	144732254	144732254	+	Frame_Shift_Del	DEL	C	C	-																															aggtcagagcctggggagttCcccctctcaggacaggggct																										TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:144732254delC	ENST00000501748.2	+	1	301	c.212delC	c.(211-213)tcfs	p.S71fs	ZNF623_ENST00000458270.2_Frame_Shift_Del_p.S31fs|ZNF623_ENST00000526926.1_Frame_Shift_Del_p.S31fs	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGGGGAGTTCCCCCTCTCAG	0.572													31	90	---	---	---	---					-	144732254	C	-	144732254	7	5	320	1	0	1	0	1	0	0	0	0	18142	855	30	0	214	0	ZNF623	8	144732254	Frame_Shift_Del	DEL	C	TCGA-CV-7432-01A-11D-2129-08	2831508	144732254	1631768	89	57099											
PLEC	5339	broad.mit.edu	37	chr8	144990748	144990748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcgtccaccgtgccgCgctgcagggcctcgtccagg	3	6	16	16	6	0	0	0	0	0	0	3	0	2	0	5	3	3	2	5	3	0	0			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:144990748C>T	ENST00000322810.4	-	32	13821	c.13652G>A	c.(13651-13653)cGc>cAc	p.R4551H	PLEC_ENST00000345136.3_Missense_Mutation_p.R4414H|PLEC_ENST00000527096.1_Missense_Mutation_p.R4437H|PLEC_ENST00000398774.2_Missense_Mutation_p.R4382H|PLEC_ENST00000357649.2_Missense_Mutation_p.R4418H|PLEC_ENST00000436759.2_Missense_Mutation_p.R4441H|PLEC_ENST00000354958.2_Missense_Mutation_p.R4392H|PLEC_ENST00000354589.3_Missense_Mutation_p.R4414H|PLEC_ENST00000356346.3_Missense_Mutation_p.R4400H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4551	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCGTGCCGCGCTGCAGGGC	0.672													7	75					0	0	0	0	T	144990748	C	T	144990748	3	4	320	1	0	0	0	0	1	0	0	0	12124	768	27	1	406	1	PLEC	8	144990748	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	258494	144990748	1373274	90	57100											
CDKN2A	1029	broad.mit.edu	37	chr9	21971196	21971198	+	In_Frame_Del	DEL	CAT	CAT	-																															tccgccactcgggcgctgccCatcatcatgacctgccagag																										TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:21971196_21971198delCAT	ENST00000579755.1	-	2	495_497	c.203_205delATG	c.(202-207)ggg>g	p.DG68del	CDKN2A_ENST00000530628.2_In_Frame_Del_p.DG68del|CDKN2A_ENST00000498628.2_In_Frame_Del_p.M3del|CDKN2A_ENST00000479692.2_In_Frame_Del_p.M3del|CDKN2A_ENST00000497750.1_In_Frame_Del_p.M3del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.M54del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.M54del|CDKN2A_ENST00000578845.2_In_Frame_Del_p.M3del|CDKN2A_ENST00000494262.1_In_Frame_Del_p.M3del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.M54del|CDKN2A_ENST00000361570.3_In_Frame_Del_p.DG109del|CDKN2A_ENST00000304494.5_In_Frame_Del_p.M54del			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44			A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> T (in an esophagus tumor).|A -> V.|Missing (in melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.M53_R58del(3)|p.M54fs*92(2)|p.M54fs*61(2)|p.M54fs*66(2)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGGCGCTGCCCATCATCATGACC	0.68		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	5	---	---	---	---					-	21971198	CAT	-	21971196	7	5	320	1	0	1	0	1	0	0	0	0	3190	594	21	0	316	0	CDKN2A	9	21971196	In_Frame_Del	DEL	CAT	TCGA-CV-7432-01A-11D-2129-08		21971196	119242235	91	57101											
ALDH1A1	216	broad.mit.edu	37	chr9	75531989	75531989	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggccctggtggtagaatacCccatggtgtgcaaattcaac	10	10	11	10	0	1	1	1	0	0	1	1	1	1	1	3	4	3	2	3	4	5	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:75531989C>T	ENST00000297785.3	-	9	936	c.882G>A	c.(880-882)ggG>ggA	p.G294G	ALDH1A1_ENST00000376939.1_Intron	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	294					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GGTAGAATACCCCATGGTGTG	0.378													60	101					0	0	0	0	T	75531989	C	T	75531989	2	4	320	1	0	0	0	0	0	0	0	1	490	610	22	4		4	ALDH1A1	9	75531989	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08	53560793	75531989	65681442	92	57102											
GABBR2	9568	broad.mit.edu	37	chr9	101216493	101216493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactctctctcatactgctGtggagtctggaaaaacaggg	10	11	11	9	0	3	0	1	0	3	0	5	2	3	2	0	3	4	2	0	3	4	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:101216493G>T	ENST00000259455.2	-	7	1465	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	336					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCATACTGCTGTGGAGTCTGG	0.547													25	64					1.12875e-08	1.26768e-08	1	0	T	101216493	G	T	101216493	3	4	320	1	0	0	0	0	1	0	0	0	6204	1386	48	4	1871	4	GABBR2	9	101216493	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	25684504	101216493	39996938	93	57103											
MUSK	4593	broad.mit.edu	37	chr9	113445040	113445040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagtggaatcctaccccCagcctgagatttcctggact	8	10	10	13	0	0	1	0	1	0	1	2	4	2	3	5	2	3	1	5	2	2	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:113445040C>A	ENST00000416899.2	+	2	292	c.166C>A	c.(166-168)Cag>Aag	p.Q56K	MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000374448.4_Missense_Mutation_p.Q56K|MUSK_ENST00000189978.5_Missense_Mutation_p.Q56K			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	56	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATCCTACCCCCAGCCTGAGAT	0.373													11	115					0.000673444	0.000689179	1	0	A	113445040	C	A	113445040	3	1	320	1	0	0	0	0	1	0	0	0	10059	595	21	4	172	4	MUSK	9	113445040	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	12228547	113445040	27768391	94	57104											
MAPKAP1	79109	broad.mit.edu	37	chr9	128206807	128206807	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatttcattgacggtagcAgcgtccgattcaaagtagag	13	10	10	8	3	2	2	2	1	0	1	3	3	3	2	1	1	2	3	1	1	4	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:128206807A>G	ENST00000265960.3	-	11	1748	c.1416T>C	c.(1414-1416)gcT>gcC	p.A472A	MAPKAP1_ENST00000373497.5_Silent_p.A185A|MAPKAP1_ENST00000394063.1_Silent_p.A280A|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000373503.3_Silent_p.A280A|MAPKAP1_ENST00000373498.1_Silent_p.A472A|MAPKAP1_ENST00000350766.3_Silent_p.A436A|MAPKAP1_ENST00000373511.2_Silent_p.A425A	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	472	Interaction with ATF2.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGACGGTAGCAGCGTCCGATT	0.473													53	93					0	0	0	0	G	128206807	A	G	128206807	2	3	320	1	0	0	0	0	0	0	0	1	9357	175	7	5		5	MAPKAP1	9	128206807	Silent	SNP	A	TCGA-CV-7432-01A-11D-2129-08	14761767	128206807	13006624	95	57105											
FAM102A	399665	broad.mit.edu	37	chr9	130707135	130707135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcatcgatccgcgtgtcGtccacccaggtcgggtggct	4	9	13	15	6	0	0	0	0	0	0	6	1	3	0	4	3	0	2	4	3	0	0	rs139831125		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:130707135G>T	ENST00000373095.1	-	9	1335	c.960C>A	c.(958-960)gaC>gaA	p.D320E	FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_Missense_Mutation_p.D178E	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	320										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCCGCGTGTCGTCCACCCAGG	0.617													10	34					7.48243e-07	8.07218e-07	1	0	T	130707135	G	T	130707135	3	4	320	1	0	0	0	0	1	0	0	0	5423	1136	40	3	206	3	FAM102A	9	130707135	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	2500328	130707135	10506296	96	57106											
BARHL1	56751	broad.mit.edu	37	chr9	135462840	135462840	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcagctggagcgcagcttCgagcggcagaagtacctgag	9	5	16	11	4	0	2	0	1	0	1	1	4	0	3	1	2	5	6	1	2	2	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:135462840C>T	ENST00000263610.2	+	2	1204	c.591C>T	c.(589-591)ttC>ttT	p.F197F	BARHL1_ENST00000542090.1_Silent_p.F197F	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	197						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		AGCGCAGCTTCGAGCGGCAGA	0.657													10	20					0	0	0	0	T	135462840	C	T	135462840	2	4	320	1	0	0	0	0	0	0	0	1	1317	883	31	1		1	BARHL1	9	135462840	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08	4755705	135462840	5750591	97	57107											
SURF4	6836	broad.mit.edu	37	chr9	136234283	136234283	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgatcagacagaggcgCgccacgtggggcaggtactg	8	6	17	10	3	1	3	1	1	0	2	1	3	1	3	1	4	2	3	1	4	1	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:136234283C>T	ENST00000371989.3	-	2	216	c.87G>A	c.(85-87)gcG>gcA	p.A29A	SURF4_ENST00000485435.2_Silent_p.A29A|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Silent_p.A29A|SURF4_ENST00000545297.1_Silent_p.A29A	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	29						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GACAGAGGCGCGCCACGTGGG	0.642													6	62					0	0	0	0	T	136234283	C	T	136234283	2	4	320	1	0	0	0	0	0	0	0	1	15495	755	27	1		1	SURF4	9	136234283	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08	771443	136234283	4979148	98	57108											
CUBN	8029	broad.mit.edu	37	chr10	16949520	16949520	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattacctgcatcttcactGgaggtataggaagcagtgaa	13	10	10	8	0	2	1	1	1	1	0	2	3	2	3	1	3	3	3	1	3	5	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:16949520G>T	ENST00000377833.4	-	49	7757	c.7692C>A	c.(7690-7692)tcC>tcA	p.S2564S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2564	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATCTTCACTGGAGGTATAGG	0.463													11	48					4.3838e-07	4.77638e-07	1	0	T	16949520	G	T	16949520	2	4	320	1	0	0	0	0	0	0	0	1	4083	1335	47	4		4	CUBN	10	16949520	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08		16949520	118585227	99	57109											
SPAG6	9576	broad.mit.edu	37	chr10	22676869	22676869	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctgaaggacaaggatgaaTacgtgaagaaaaatgcttct	16	9	11	5	1	2	4	0	3	2	1	2	6	2	6	0	2	2	1	0	2	7	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:22676869T>A	ENST00000376603.2	+	6	1166	c.1024T>A	c.(1024-1026)Tac>Aac	p.Y342N	SPAG6_ENST00000313311.6_Missense_Mutation_p.Y266N|SPAG6_ENST00000376624.3_Missense_Mutation_p.Y266N|SPAG6_ENST00000538630.1_Missense_Mutation_p.Y241N|SPAG6_ENST00000376601.1_Intron|RP11-301N24.3_ENST00000422675.1_RNA			O75602	SPAG6_HUMAN	sperm associated antigen 6	266					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CAAGGATGAATACGTGAAGAA	0.373													19	39					0	0	0	0	A	22676869	T	A	22676869	3	1	320	1	0	0	0	0	1	0	0	0	15072	1406	49	5	818	5	SPAG6	10	22676869	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	5727349	22676869	112857878	100	57110											
ZNF33B	7582	broad.mit.edu	37	chr10	43088789	43088789	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtattgtgaggtctgactTcaagcagaaggttttcccac	10	13	10	8	0	2	3	1	2	1	1	3	3	3	3	1	2	1	3	1	2	3	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:43088789T>C	ENST00000359467.3	-	5	1723	c.1609A>G	c.(1609-1611)Aag>Gag	p.K537E	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	537						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						AGGTCTGACTTCAAGCAGAAG	0.423													27	110					0	0	0	0	C	43088789	T	C	43088789	3	2	320	1	0	0	0	0	1	0	0	0	17950	1792	62	5	731	5	ZNF33B	10	43088789	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	20411920	43088789	92445958	101	57111											
SFTPD	6441	broad.mit.edu	37	chr10	81697729	81697729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggctcccctggggcccagTtggaatagaccagggactct	7	8	14	12	0	1	1	0	0	1	1	2	3	2	3	4	5	0	2	4	5	2	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:81697729T>C	ENST00000372292.3	-	8	1047	c.1007A>G	c.(1006-1008)aAc>aGc	p.N336S		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	336	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TGGGGCCCAGTTGGAATAGAC	0.552													25	145					0	0	0	0	C	81697729	T	C	81697729	3	2	320	1	0	0	0	0	1	0	0	0	14280	1725	60	5	124	5	SFTPD	10	81697729	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	38608940	81697729	53837018	102	57112											
PPP2R2D	55844	broad.mit.edu	37	chr10	133758916	133758916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtagcaaagggaccatccGcctgtgtgacatgcgctcct	9	8	11	13	2	0	1	0	1	0	0	2	2	2	2	4	1	2	3	4	1	2	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:133758916G>A	ENST00000422256.2	+	4	577	c.92G>A	c.(91-93)cGc>cAc	p.R31H	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	258					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.R227H(1)|p.R31H(1)		endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GGGACCATCCGCCTGTGTGAC	0.582													20	46					0	0	0	0	A	133758916	G	A	133758916	3	1	320	1	0	0	0	0	1	0	0	0	12463	1087	38	1	693	1	PPP2R2D	10	133758916	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	52061187	133758916	1775831	103	57113											
TAF10	6881	broad.mit.edu	37	chr11	6632501	6632501	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattggcaatatctgagatGaatttctgggcagctaagga	12	12	11	6	0	3	2	1	2	2	1	3	4	3	3	0	3	1	3	0	3	4	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:6632501G>A	ENST00000299424.4	-	4	963	c.486C>T	c.(484-486)ttC>ttT	p.F162F	TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	162					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATCTGAGATGAATTTCTGGG	0.488													37	74					0	0	0	0	A	6632501	G	A	6632501	2	1	320	1	0	0	0	0	0	0	0	1	15605	1281	45	2		2	TAF10	11	6632501	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08		6632501	128374015	104	57114											
OR5D14	219436	broad.mit.edu	37	chr11	55563785	55563785	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacctgacttctatcaccAtcttccatgggaccatcctt	8	12	4	17	0	3	1	1	1	2	0	5	2	5	2	6	1	0	0	6	1	1	4	rs149902192		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:55563785A>G	ENST00000335605.1	+	1	754	c.754A>G	c.(754-756)Atc>Gtc	p.I252V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I252F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTCTATCACCATCTTCCATGG	0.458													24	62					0	0	0	0	G	55563785	A	G	55563785	3	3	320	1	0	0	0	0	1	0	0	0	11226	217	8	5	756	5	OR5D14	11	55563785	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	48931284	55563785	79442731	105	57115											
OR5D18	219438	broad.mit.edu	37	chr11	55587248	55587248	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaatattgggttgattgTgatcatcaaaatcaacccca	14	11	9	7	0	3	2	3	2	0	0	3	3	3	3	2	2	1	1	2	2	5	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:55587248T>A	ENST00000333976.4	+	1	163	c.143T>A	c.(142-144)gTg>gAg	p.V48E		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GGGTTGATTGTGATCATCAAA	0.458													69	119					0	0	0	0	A	55587248	T	A	55587248	3	1	320	1	0	0	0	0	1	0	0	0	11228	1696	59	5	145	5	OR5D18	11	55587248	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	23463	55587248	79419268	106	57116											
KCNE3	10008	broad.mit.edu	37	chr11	74168458	74168458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagttgtcatcacggccagGtaggctggcccgcctctctt	5	10	13	13	2	3	0	2	0	1	0	4	1	3	1	3	5	0	3	3	5	1	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:74168458G>A	ENST00000310128.4	-	3	570	c.151C>T	c.(151-153)Cct>Tct	p.P51S	KCNE3_ENST00000525550.1_Missense_Mutation_p.P51S|RP11-702H23.4_ENST00000533008.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	51						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TCACGGCCAGGTAGGCTGGCC	0.557													19	116					0	0	0	0	A	74168458	G	A	74168458	3	1	320	1	0	0	0	0	1	0	0	0	8077	1261	44	4	164	4	KCNE3	11	74168458	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	18581210	74168458	60838058	107	57117											
MMP12	4321	broad.mit.edu	37	chr11	102743846	102743847	+	RNA	INS	-	-	A																															atttttctaagtatctctggINSaaaaaaaaatacattcagca																										TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:102743846_102743847insA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGTATCTCTGGAAAAAAAAATA	0.332													9	271	---	---	---	---					A	102743847	-	A	102743846	6	5	320	0	1	1	1	0	0	0	0	0	9720	1189	41	0		0	MMP12	11	102743846	RNA	INS	-	TCGA-CV-7432-01A-11D-2129-08	28575388	102743846	32262670	108	57118											
DYNC2H1	79659	broad.mit.edu	37	chr11	103175431	103175431	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttacatcttgtggtatcttgGctgccagttctggaaaaggt	8	15	11	7	0	3	0	0	0	3	0	3	1	3	1	1	4	2	3	1	4	4	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:103175431G>C	ENST00000375735.2	+	77	11508	c.11364G>C	c.(11362-11364)tgG>tgC	p.W3788C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.W3795C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3788	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGTATCTTGGCTGCCAGTTC	0.378													21	645					0	0	0	0	C	103175431	G	C	103175431	3	2	320	1	0	0	0	0	1	0	0	0	4882	1212	42	4	11695	4	DYNC2H1	11	103175431	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	431585	103175431	31831085	109	57119											
ITFG2	55846	broad.mit.edu	37	chr12	2927360	2927360	+	Frame_Shift_Del	DEL	A	A	-																															ggatgcttctgggcaccacgAgacactaatcggagaggagc																										TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:2927360delA	ENST00000228799.2	+	4	462	c.323delA	c.(322-324)ggfs	p.E108fs	ITFG2_ENST00000419778.2_Intron|ITFG2_ENST00000542548.1_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	108										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGGCACCACGAGACACTAATC	0.537													28	37	---	---	---	---					-	2927360	A	-	2927360	7	5	320	1	0	1	0	1	0	0	0	0	7923	304	11	0	337	0	ITFG2	12	2927360	Frame_Shift_Del	DEL	A	TCGA-CV-7432-01A-11D-2129-08		2927360	130924535	110	57120											
GALNT8	26290	broad.mit.edu	37	chr12	4854710	4854710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtatgaactggcagttgatGggtttaactgggaactctgg	10	12	14	5	0	1	2	0	2	1	0	1	3	1	3	0	4	3	4	0	4	4	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:4854710G>A	ENST00000252318.2	+	5	1313	c.976G>A	c.(976-978)Ggg>Agg	p.G326R		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	326						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGCAGTTGATGGGTTTAACTG	0.493													11	49					0	0	0	0	A	4854710	G	A	4854710	3	1	320	1	0	0	0	0	1	0	0	0	6268	1348	47	4	994	4	GALNT8	12	4854710	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	1927350	4854710	128997185	111	57121											
ENO2	2026	broad.mit.edu	37	chr12	7028878	7028878	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccttcccgatacatcacTggggaccagctgggggcact	8	8	12	13	1	1	0	1	0	0	0	3	3	3	1	3	4	2	2	3	4	1	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:7028878T>A	ENST00000535366.1	+	7	1442	c.816T>A	c.(814-816)acT>acA	p.T272T	ENO2_ENST00000229277.1_Silent_p.T272T|ENO2_ENST00000538763.1_Silent_p.T229T|ENO2_ENST00000545045.2_Silent_p.T153T|ENO2_ENST00000544774.1_Silent_p.T229T|ENO2_ENST00000541477.1_Silent_p.T272T			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	272					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GATACATCACTGGGGACCAGC	0.542													21	54					0	0	0	0	A	7028878	T	A	7028878	2	1	320	1	0	0	0	0	0	0	0	1	5160	1567	55	5		5	ENO2	12	7028878	Silent	SNP	T	TCGA-CV-7432-01A-11D-2129-08	2174168	7028878	126823017	112	57122											
SLCO1B1	10599	broad.mit.edu	37	chr12	21358894	21358894	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcaatgggaaccagtctgtgGaaacaatggaataacttaca	16	9	9	7	0	2	0	1	0	1	0	2	3	2	3	1	3	4	0	1	3	7	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:21358894G>C	ENST00000256958.2	+	11	1520	c.1424G>C	c.(1423-1425)gGa>gCa	p.G475A		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	475	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CCAGTCTGTGGAAACAATGGA	0.378													17	110					0	0	0	0	C	21358894	G	C	21358894	3	2	320	1	0	0	0	0	1	0	0	0	14811	1174	41	2	1462	2	SLCO1B1	12	21358894	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	14330016	21358894	112493001	113	57123											
TROAP	10024	broad.mit.edu	37	chr12	49717991	49717991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttagaagatctccctttcctCcagcaaaatgtcatctcgcc	10	12	5	14	1	3	2	1	0	2	2	7	2	5	2	4	0	1	1	4	0	4	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:49717991C>T	ENST00000380327.5	+	4	491	c.391C>T	c.(391-393)Cca>Tca	p.P131S	TROAP_ENST00000551245.1_Intron|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000548311.1_Intron|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000257909.3_Intron	NM_001100620.1	NP_001094090.1	Q12815	TROAP_HUMAN	trophinin associated protein	550					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TCCCTTTCCTCCAGCAAAATG	0.517													14	42					0	0	0	0	T	49717991	C	T	49717991	3	4	320	1	0	0	0	0	1	0	0	0	16670	855	30	2	401	2	TROAP	12	49717991	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	28359097	49717991	84133904	114	57124											
KCNH3	23416	broad.mit.edu	37	chr12	49951243	49951243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggagggtccgtgccctcGggcatcgggagaggggccgt	5	5	20	11	4	0	1	0	0	0	1	3	3	1	2	3	6	1	1	3	6	0	0			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:49951243G>A	ENST00000257981.6	+	15	3019	c.2759G>A	c.(2758-2760)cGg>cAg	p.R920Q		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	920					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCGTGCCCTCGGGCATCGGGA	0.677													4	18					0	0	0	0	A	49951243	G	A	49951243	3	1	320	1	0	0	0	0	1	0	0	0	8086	1116	39	1	2817	1	KCNH3	12	49951243	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	233252	49951243	83900652	115	57125											
KRT5	3852	broad.mit.edu	37	chr12	52909018	52909018	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaaacactgcttgtgAcaacagctgcagggaaagga	15	5	13	8	0	0	2	0	1	0	1	0	5	0	5	0	3	5	3	0	3	3	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:52909018A>T	ENST00000252242.4	-	9	1871	c.1481T>A	c.(1480-1482)gTc>gAc	p.V494D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	494	Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTGCTTGTGACAACAGCTGC	0.587													12	26					0	0	0	0	T	52909018	A	T	52909018	3	4	320	1	0	0	0	0	1	0	0	0	8531	275	10	5	295	5	KRT5	12	52909018	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	2957775	52909018	80942877	116	57126											
OAS2	4939	broad.mit.edu	37	chr12	113435452	113435452	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcgtcagaaccgtacTggagctgatcaaatgccagg	12	7	13	9	2	2	3	2	2	0	1	2	4	2	4	2	3	4	2	2	3	4	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:113435452T>A	ENST00000392583.2	+	4	962	c.755T>A	c.(754-756)cTg>cAg	p.L252Q	OAS2_ENST00000342315.4_Missense_Mutation_p.L252Q|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	252	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGAACCGTACTGGAGCTGATC	0.502													16	41					0	0	0	0	A	113435452	T	A	113435452	3	1	320	1	0	0	0	0	1	0	0	0	10871	1580	55	5	840	5	OAS2	12	113435452	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	60526434	113435452	20416443	117	57127											
ULK1	8408	broad.mit.edu	37	chr12	132401102	132401102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgttgggccctggcctgCggccaggcgaggaccccaag	6	4	16	15	3	0	0	0	0	0	0	0	2	0	1	6	5	2	1	6	5	1	1	rs147399196	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:132401102C>T	ENST00000321867.4	+	20	2389	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	680					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCCTGGCCTGCGGCCAGGCGA	0.687													5	47					0	0	0	0	T	132401102	C	T	132401102	3	4	320	1	0	0	0	0	1	0	0	0	17071	759	27	1	2116	1	ULK1	12	132401102	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	18965650	132401102	1450793	118	57128											
POSTN	10631	broad.mit.edu	37	chr13	38137487	38137487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttttcactgagaacgaccttCccttaatcgtcttctagatc	9	15	5	12	2	3	2	1	1	2	2	6	4	4	2	2	0	1	0	2	0	3	6			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:38137487C>T	ENST00000379747.4	-	23	2611	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	POSTN_ENST00000541481.1_Missense_Mutation_p.E745K|POSTN_ENST00000379743.4_Missense_Mutation_p.E805K|POSTN_ENST00000541179.1_Missense_Mutation_p.E777K|POSTN_ENST00000379749.4_Missense_Mutation_p.E804K|POSTN_ENST00000379742.4_Missense_Mutation_p.E775K	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	832					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GAACGACCTTCCCTTAATCGT	0.303													16	39					0	0	0	0	T	38137487	C	T	38137487	3	4	320	1	0	0	0	0	1	0	0	0	12331	864	30	2	20	2	POSTN	13	38137487	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08		38137487	77032391	119	57129											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281497	49281497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtggctctgagcagaacGgcagtgtcacatcatgctta	11	9	11	10	1	3	2	2	1	1	1	3	2	3	2	0	2	3	4	0	2	2	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:49281497G>A	ENST00000282018.3	+	1	547	c.544G>A	c.(544-546)Ggc>Agc	p.G182S		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	182					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGAGCAGAACGGCAGTGTCAC	0.483													39	122					0	0	0	0	A	49281497	G	A	49281497	3	1	320	1	0	0	0	0	1	0	0	0	4234	1116	39	1	546	1	CYSLTR2	13	49281497	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	11144010	49281497	65888381	120	57130											
DIAPH3	81624	broad.mit.edu	37	chr13	60485887	60485887	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacaaccacaaactgctcAggttcacataagttgctata	15	9	5	12	0	2	0	2	0	0	0	2	0	2	0	2	1	4	4	2	1	5	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:60485887A>T	ENST00000400324.4	-	20	2569	c.2349T>A	c.(2347-2349)ccT>ccA	p.P783P	DIAPH3_ENST00000400330.1_Silent_p.P783P|DIAPH3_ENST00000377908.2_Silent_p.P772P|DIAPH3_ENST00000400320.1_Silent_p.P737P|DIAPH3_ENST00000267215.4_Silent_p.P783P|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Silent_p.P713P	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	783	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAAACTGCTCAGGTTCACATA	0.348													30	56					0	0	0	0	T	60485887	A	T	60485887	2	4	320	1	0	0	0	0	0	0	0	1	4557	175	7	5		5	DIAPH3	13	60485887	Silent	SNP	A	TCGA-CV-7432-01A-11D-2129-08	11204390	60485887	54683991	121	57131											
GPC5	2262	broad.mit.edu	37	chr13	92797193	92797193	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatgatgaagatggttgCgggggatcaggaagtggaga	11	9	19	2	1	1	5	1	3	0	2	1	8	1	7	0	5	1	1	0	5	2	1	rs147244156		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:92797193C>T	ENST00000377067.3	+	7	1884	c.1512C>T	c.(1510-1512)tgC>tgT	p.C504C		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	504						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGATGGTTGCGGGGGATCAG	0.443													16	62					0	0	0	0	T	92797193	C	T	92797193	2	4	320	1	0	0	0	0	0	0	0	1	6650	776	27	1		1	GPC5	13	92797193	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08	32311306	92797193	22372685	122	57132											
TTC5	91875	broad.mit.edu	37	chr14	20768886	20768886	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcttcacagcctttgaCagaagctcctcagccttagg	9	10	8	14	0	2	2	2	1	0	1	4	2	4	2	4	1	4	2	4	1	2	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:20768886C>A	ENST00000258821.3	-	3	332	c.276G>T	c.(274-276)ctG>ctT	p.L92L		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	92					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CAGCCTTTGACAGAAGCTCCT	0.532													62	64					4.17052e-40	5.07413e-40	1	0	A	20768886	C	A	20768886	2	1	320	1	0	0	0	0	0	0	0	1	16807	465	17	4		4	TTC5	14	20768886	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08		20768886	86580654	123	57133											
HEATR5A	25938	broad.mit.edu	37	chr14	31858116	31858116	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagcatatctccactggCtcgaaggaatcctgaactcc	10	11	7	13	1	2	1	1	1	1	0	6	3	4	2	3	2	2	2	3	2	4	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:31858116C>G	ENST00000543095.2	-	7	1052	c.868G>C	c.(868-870)Gcc>Ccc	p.A290P	HEATR5A_ENST00000404677.3_Missense_Mutation_p.A290P|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A284P|HEATR5A_ENST00000439727.1_5'UTR|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A284P	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	284							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCTCCACTGGCTCGAAGGAAT	0.458													22	22					0	0	0	0	G	31858116	C	G	31858116	3	3	320	1	0	0	0	0	1	0	0	0	7081	812	28	4		4	HEATR5A	14	31858116	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	11089230	31858116	75491424	124	57134											
C14orf105	55195	broad.mit.edu	37	chr14	57938276	57938276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtagttattcactgcttGatgtttcaaaaattctgtat	12	17	6	6	0	3	1	2	1	1	0	3	1	3	1	0	0	1	5	0	0	5	7			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:57938276G>T	ENST00000216445.3	-	6	824	c.688C>A	c.(688-690)Caa>Aaa	p.Q230K	C14orf105_ENST00000422976.2_Missense_Mutation_p.Q270K|C14orf105_ENST00000534126.1_Missense_Mutation_p.Q229K	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	230										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TTCACTGCTTGATGTTTCAAA	0.358													12	21					1.61879e-10	1.83687e-10	1	0	T	57938276	G	T	57938276	3	4	320	1	0	0	0	0	1	0	0	0	1749	1299	45	2	206	2	C14orf105	14	57938276	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	26080160	57938276	49411264	125	57135											
SIPA1L1	26037	broad.mit.edu	37	chr14	72054661	72054661	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgttgttggcacagaCggcacccccaaagtccacac	9	7	9	16	1	1	1	0	0	1	1	2	1	2	1	4	2	0	4	4	2	1	2	rs112129340		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:72054661C>T	ENST00000555818.1	+	2	420	c.72C>T	c.(70-72)gaC>gaT	p.D24D	SIPA1L1_ENST00000358550.2_Silent_p.D24D|SIPA1L1_ENST00000381232.3_Silent_p.D24D	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	24					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTGGCACAGACGGCACCCCCA	0.522													48	93					0	0	0	0	T	72054661	C	T	72054661	2	4	320	1	0	0	0	0	0	0	0	1	14417	535	19	1		1	SIPA1L1	14	72054661	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08	14116385	72054661	35294879	126	57136											
NRXN3	9369	broad.mit.edu	37	chr14	80328189	80328189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctatcaagtggacgagaCgcggaactacatcagcaact	13	7	10	11	3	2	1	2	0	0	1	3	4	3	3	1	2	4	1	1	2	5	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:80328189C>T	ENST00000281127.7	+	6	2060	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	NRXN3_ENST00000554719.1_Missense_Mutation_p.T1023M|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000335750.5_Missense_Mutation_p.T1023M|NRXN3_ENST00000428277.2_Missense_Mutation_p.T421M|NRXN3_ENST00000557594.1_Missense_Mutation_p.T599M	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	599					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)		GTGGACGAGACGCGGAACTAC	0.562													8	18					0	0	0	0	T	80328189	C	T	80328189	3	4	320	1	0	0	0	0	1	0	0	0	10738	536	19	1	3480	1	NRXN3	14	80328189	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	8273528	80328189	27021351	127	57137											
FLRT2	23768	broad.mit.edu	37	chr14	86088735	86088735	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaactgcggatgctgactCaaggggtttttgataatctc	10	12	10	9	1	2	2	1	2	1	0	3	3	2	3	1	3	3	2	1	3	3	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:86088735C>G	ENST00000330753.4	+	2	1644	c.877C>G	c.(877-879)Caa>Gaa	p.Q293E	FLRT2_ENST00000554746.1_Missense_Mutation_p.Q293E	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	293					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)		GATGCTGACTCAAGGGGTTTT	0.463													75	205					0	0	0	0	G	86088735	C	G	86088735	3	3	320	1	0	0	0	0	1	0	0	0	5984	827	29	2	879	2	FLRT2	14	86088735	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	5760546	86088735	21260805	128	57138											
TYRO3	7301	broad.mit.edu	37	chr15	41857341	41857342	+	Splice_Site	INS	-	-	A																															cagtcctgtacagttcaggtINSaggctctccgggccgggcca																										TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr15:41857341_41857342insA	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579													16	13	---	---	---	---					A	41857342	-	A	41857341	8	5	320	1	0	1	1	0	0	0	1	0	16910	1652	57	0	807	0	TYRO3	15	41857341	Splice_Site	INS	-	TCGA-CV-7432-01A-11D-2129-08		41857341	60674051	129	57139											
CAPN3	825	broad.mit.edu	37	chr15	42693865	42693865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaccaaccctcagtacCgtctgaagctcctggaggag	9	8	11	13	1	3	1	1	1	2	0	4	4	4	4	4	3	3	2	4	3	3	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr15:42693865C>T	ENST00000397163.3	+	11	1600	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.R461C|CAPN3_ENST00000356316.3_Missense_Mutation_p.R374C|CAPN3_ENST00000349748.3_Missense_Mutation_p.R413C|CAPN3_ENST00000318023.7_Missense_Mutation_p.R461C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	461	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	p.R461C(1)|p.R374C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCCTCAGTACCGTCTGAAGCT	0.582													7	24					0	0	0	0	T	42693865	C	T	42693865	3	4	320	1	0	0	0	0	1	0	0	0	2653	652	23	1	1475	1	CAPN3	15	42693865	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	836524	42693865	59837527	130	57140											
PKD1	5310	broad.mit.edu	37	chr16	2143887	2143888	+	Frame_Shift_Ins	INS	-	-	G																															gccacgcaacactcacgcccINSggggggaagctcgcacccac																										TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:2143887_2143888insG	ENST00000262304.4	-	36	10953_10954	c.10745_10746insC	c.(10744-10746)cggfs	p.R3582fs	PKD1_ENST00000423118.1_Frame_Shift_Ins_p.R3581fs|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3582					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACTCACGCCCGGGGGGAAGCT	0.698													2	4	---	---	---	---					G	2143888	-	G	2143887	7	5	320	1	0	1	1	0	0	0	0	0	12035	639	23	0	2209	0	PKD1	16	2143887	Frame_Shift_Ins	INS	-	TCGA-CV-7432-01A-11D-2129-08		2143887	88210866	131	57141											
ACSM2B	348158	broad.mit.edu	37	chr16	20554275	20554275	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgctgatcacagccgtCtcaaccacagcagggtgctt	8	8	12	13	1	2	1	2	1	1	0	3	1	2	1	2	2	5	4	2	2	1	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:20554275C>A	ENST00000329697.6	-	12	1638	c.1470G>T	c.(1468-1470)gaG>gaT	p.E490D	ACSM2B_ENST00000567001.1_Missense_Mutation_p.E490D|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E490D|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E411D	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	490					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCACAGCCGTCTCAACCACAG	0.557													15	60					1.15088e-07	1.26654e-07	1	0	A	20554275	C	A	20554275	3	1	320	1	0	0	0	0	1	0	0	0	184	912	32	2	275	2	ACSM2B	16	20554275	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	18410388	20554275	69800478	132	57142											
CDH8	1006	broad.mit.edu	37	chr16	61687870	61687870	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattttgtaaagttgcaatgTcaaaagcctctgtgtcctcc	10	14	8	9	0	2	0	1	0	1	0	4	1	4	0	3	0	2	3	3	0	5	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:61687870T>A	ENST00000577390.1	-	12	2996	c.2042A>T	c.(2041-2043)gAc>gTc	p.D681V	CDH8_ENST00000299345.6_Missense_Mutation_p.D681V|CDH8_ENST00000577730.1_Missense_Mutation_p.D681V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	681					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGTTGCAATGTCAAAAGCCTC	0.398													43	88					0	0	0	0	A	61687870	T	A	61687870	3	1	320	1	0	0	0	0	1	0	0	0	3145	1667	58	5	361	5	CDH8	16	61687870	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	41133595	61687870	28666883	133	57143											
ZFHX3	463	broad.mit.edu	37	chr16	72993956	72993956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggtttgtcagggaggtggGtgctgttgagttcagtccat	5	14	17	5	0	2	1	2	1	0	0	3	2	3	2	1	4	1	4	1	4	0	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:72993956G>A	ENST00000268489.5	-	2	761	c.89C>T	c.(88-90)aCc>aTc	p.T30I	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	30					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGGAGGTGGGTGCTGTTGAG	0.627													17	59					0	0	0	0	A	72993956	G	A	72993956	3	1	320	1	0	0	0	0	1	0	0	0	17729	1261	44	4	11058	4	ZFHX3	16	72993956	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	11306086	72993956	17360797	134	57144											
LDHD	197257	broad.mit.edu	37	chr16	75148731	75148731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcgcgagtcctacccacggGaaaccagaggccgctgtccc	8	6	11	16	4	0	1	0	0	0	1	3	3	2	2	5	2	2	1	5	2	2	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:75148731G>T	ENST00000300051.4	-	4	509	c.463C>A	c.(463-465)Ccc>Acc	p.P155T	LDHD_ENST00000450168.2_Missense_Mutation_p.P155T	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	155	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CTACCCACGGGAAACCAGAGG	0.657													9	32					1.76689e-08	1.96421e-08	1	0	T	75148731	G	T	75148731	3	4	320	1	0	0	0	0	1	0	0	0	8756	1174	41	2	1092	2	LDHD	16	75148731	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	2154775	75148731	15206022	135	57145											
ATP2A3	489	broad.mit.edu	37	chr17	3853822	3853822	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagaaaacagcatgttctTcttgtcctggttcacagctc	10	13	7	11	0	3	1	1	0	2	1	5	1	4	1	1	1	4	4	1	1	3	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:3853822T>C	ENST00000309890.7	-	7	763	c.613A>G	c.(613-615)Aag>Gag	p.K205E	ATP2A3_ENST00000352011.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000397035.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000397041.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000397043.3_Missense_Mutation_p.K205E	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	205					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGCATGTTCTTCTTGTCCTGG	0.483													12	71					0	0	0	0	C	3853822	T	C	3853822	3	2	320	1	0	0	0	0	1	0	0	0	1142	1792	62	5	2657	5	ATP2A3	17	3853822	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08		3853822	77341388	136	57146											
FXR2	9513	broad.mit.edu	37	chr17	7495898	7495898	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggcggctgcgattacgacgTtgaggtcttgattcatcttc	6	13	12	10	5	3	2	1	2	2	0	4	4	3	2	0	3	2	2	0	3	1	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:7495898T>C	ENST00000250113.7	-	15	2083	c.1749A>G	c.(1747-1749)caA>caG	p.Q583Q	MPDU1_ENST00000423172.2_3'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	583						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GATTACGACGTTGAGGTCTTG	0.542													49	125					0	0	0	0	C	7495898	T	C	7495898	2	2	320	1	0	0	0	0	0	0	0	1	6164	1722	60	5		5	FXR2	17	7495898	Silent	SNP	T	TCGA-CV-7432-01A-11D-2129-08	3642076	7495898	73699312	137	57147											
TP53	7157	broad.mit.edu	37	chr17	7577554	7577564	+	Frame_Shift_Del	DEL	TGCAGGAACTG	TGCAGGAACTG	-																															cctccggttcatgccgcccaTgcaggaactgttacacatgt																								rs121912655		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:7577554_7577564delTGCAGGAACTG	ENST00000420246.2	-	7	849_859	c.717_727delCAGTTCCTGCA	c.(715-729)aatgfs	p.NSSCM239fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.NSSCM239fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.NSSCM239fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.NSSCM239fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.NSSCM239fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.NSSCM239fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.C242F(82)|p.C242Y(44)|p.C242S(26)|p.S241C(26)|p.C242fs*5(16)|p.S240G(14)|p.C242R(12)|p.M243L(10)|p.S241fs*6(9)|p.S240R(8)|p.0?(8)|p.S241T(8)|p.S241Y(8)|p.S241A(8)|p.N239K(7)|p.C242W(7)|p.C149F(6)|p.S240I(6)|p.S241del(5)|p.?(5)|p.S148F(4)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.M243V(3)|p.C242*(3)|p.S241S(3)|p.S240C(3)|p.S241P(3)|p.S240S(2)|p.S240T(2)|p.C242C(2)|p.C242G(2)|p.N239fs*25(2)|p.S240fs*7(2)|p.C149Y(2)|p.N239_S240delNS(2)|p.N239_S240insX(2)|p.S241fs*22(2)|p.S148T(1)|p.S148C(1)|p.N239*(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.M243fs*4(1)|p.C238fs*21(1)|p.N239S(1)|p.C242fs*98(1)|p.N239N(1)|p.M144_N146delMCN(1)|p.M243fs*18(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.N239fs*>48(1)|p.S240fs*26(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.S241_G245delSCMGG(1)|p.N239_S240insN(1)|p.S240fs*23(1)|p.N146fs*>10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGCCGCCCATGCAGGAACTGTTACACATGT	0.583		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	78	---	---	---	---					-	7577564	TGCAGGAACTG	-	7577554	7	5	320	1	0	1	0	1	0	0	0	0	16476	1464	51	0	563	0	TP53	17	7577554	Frame_Shift_Del	DEL	TGCAGGAACTG	TCGA-CV-7432-01A-11D-2129-08	81656	7577554	73617656	138	57148											
TP53	7157	broad.mit.edu	37	chr17	7579312	7579312	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctcagggcaactgacCgtgcaagtcacagacttggc	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs55863639		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAACTGACCGTGCAAGTCA	0.537		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	55					7.88262e-20	9.48514e-20	1	0	A	7579312	C	A	7579312	5	1	320	1	0	0	0	0	0	0	1	0	16476	666	23	3	927	3	TP53	17	7579312	Splice_Site	SNP	C	TCGA-CV-7432-01A-11D-2129-08	1758	7579312	73615898	139	57149											
MYH4	4622	broad.mit.edu	37	chr17	10369620	10369620	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggctgcgtaacgctctttGaggttatacagcacagcagg	10	9	12	10	2	1	1	0	1	1	0	1	1	1	1	0	3	5	6	0	3	3	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:10369620G>A	ENST00000255381.2	-	4	428	c.318C>T	c.(316-318)ctC>ctT	p.L106L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	106	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AACGCTCTTTGAGGTTATACA	0.453													34	92					0	0	0	0	A	10369620	G	A	10369620	2	1	320	1	0	0	0	0	0	0	0	1	10107	1277	45	2		2	MYH4	17	10369620	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08	2790308	10369620	70825590	140	57150											
DBF4B	80174	broad.mit.edu	37	chr17	42828265	42828265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggcccactcctcttccctGaagccagaccgtggcttatg	7	9	10	15	1	1	2	0	1	1	1	3	2	3	2	5	2	1	1	5	2	2	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:42828265G>A	ENST00000315005.3	+	14	1630	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	498					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTCTTCCCTGAAGCCAGACC	0.587													20	105					0	0	0	0	A	42828265	G	A	42828265	3	1	320	1	0	0	0	0	1	0	0	0	4282	1291	45	2	1591	2	DBF4B	17	42828265	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	32458645	42828265	38366945	141	57151											
ZNF652	22834	broad.mit.edu	37	chr17	47394438	47394438	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttacgcttaggtggctctAcactcttcctacgacctctt	6	15	6	14	2	4	0	0	0	4	0	5	1	5	0	2	2	3	2	2	2	4	6			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:47394438A>C	ENST00000362063.2	-	2	968	c.650T>G	c.(649-651)gTa>gGa	p.V217G	ZNF652_ENST00000430262.2_Missense_Mutation_p.V217G	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			AGGTGGCTCTACACTCTTCCT	0.522													19	42					0	0	0	0	C	47394438	A	C	47394438	3	2	320	1	0	0	0	0	1	0	0	0	18160	391	14	5	1190	5	ZNF652	17	47394438	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	4566173	47394438	33800772	142	57152											
ABCA8	10351	broad.mit.edu	37	chr17	66865847	66865847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcatacttcttacccttctCtaatttgaagaaagcttggg	10	15	7	9	0	3	2	1	1	2	1	4	2	3	2	1	1	3	1	1	1	5	7			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:66865847C>G	ENST00000269080.2	-	36	4722	c.4585G>C	c.(4585-4587)Gag>Cag	p.E1529Q	ABCA8_ENST00000430352.2_Missense_Mutation_p.E1569Q|ABCA8_ENST00000586539.1_Missense_Mutation_p.E1569Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1529						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTACCCTTCTCTAATTTGAAG	0.363													56	128					0	0	0	0	G	66865847	C	G	66865847	3	3	320	1	0	0	0	0	1	0	0	0	38	922	32	2	172	2	ABCA8	17	66865847	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	19471409	66865847	14329363	143	57153											
CCDC40	55036	broad.mit.edu	37	chr17	78013907	78013907	+	Missense_Mutation	SNP	T	T	G																															cctggagaggaggcatacgaTagtgttagcggggaggctgg																										TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:78013907T>G	ENST00000397545.4	+	3	417	c.390T>G	c.(388-390)gaT>gaG	p.D130E	CCDC40_ENST00000374877.3_Missense_Mutation_p.D130E|CCDC40_ENST00000269318.5_Missense_Mutation_p.D130E|CCDC40_ENST00000374876.4_Missense_Mutation_p.D130E	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	130					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCATACGATAGTGTTAGCG	0.562													5	48					0	0	0	0	G	78013907	T	G	78013907	3	3	320	1	0	0	0	0	1	0	0	0	2838	1403	49	5	400	5	CCDC40	17	78013907	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	11148060	78013907	3181303	144	57154	465	2									
CCDC40	55036	broad.mit.edu	37	chr17	78013909	78013909	+	Missense_Mutation	SNP	G	G	T																															tggagaggaggcatacgataGtgttagcggggaggctggtc																										TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:78013909G>T	ENST00000397545.4	+	3	419	c.392G>T	c.(391-393)aGt>aTt	p.S131I	CCDC40_ENST00000374877.3_Missense_Mutation_p.S131I|CCDC40_ENST00000269318.5_Missense_Mutation_p.S131I|CCDC40_ENST00000374876.4_Missense_Mutation_p.S131I	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	131					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCATACGATAGTGTTAGCGGG	0.567													5	46					1.024e-07	1.13261e-07	1	0	T	78013909	G	T	78013909	3	4	320	1	0	0	0	0	1	0	0	0	2838	1029	36	4	402	4	CCDC40	17	78013909	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	2	78013909	3181301	145	57155	465	2									
LRRC30	339291	broad.mit.edu	37	chr18	7231433	7231433	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgacccggatcgtggtcctGaacttgtgcgggaaccgcct	6	9	13	13	4	0	2	0	2	0	0	2	4	1	4	4	3	3	0	4	3	2	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:7231433G>A	ENST00000383467.2	+	1	311	c.297G>A	c.(295-297)ctG>ctA	p.L99L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	99										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCGTGGTCCTGAACTTGTGCG	0.577													10	29					0	0	0	0	A	7231433	G	A	7231433	2	1	320	1	0	0	0	0	0	0	0	1	9049	1277	45	2		2	LRRC30	18	7231433	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08		7231433	70845815	146	57156											
ANKRD12	23253	broad.mit.edu	37	chr18	9256801	9256801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgactttagggaagtcatCttttgtttcagataatagct	12	16	8	5	0	3	2	2	1	1	1	3	3	3	3	0	1	1	2	0	1	5	7			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:9256801C>G	ENST00000383440.2	+	8	3724	c.3467C>G	c.(3466-3468)tCt>tGt	p.S1156C	ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1156C|ANKRD12_ENST00000262126.3_Missense_Mutation_p.S1179C	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1179						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GGGAAGTCATCTTTTGTTTCA	0.383													16	48					0	0	0	0	G	9256801	C	G	9256801	3	3	320	1	0	0	0	0	1	0	0	0	640	913	32	2	3566	2	ANKRD12	18	9256801	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	2025368	9256801	68820447	147	57157											
CCDC11	220136	broad.mit.edu	37	chr18	47777156	47777156	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctttttatctgcctctTcctgtaagtcttgaagggcc	5	18	8	10	0	4	1	0	1	4	0	5	1	5	1	3	1	1	2	3	1	3	7			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:47777156T>A	ENST00000398545.4	-	5	1085	c.968A>T	c.(967-969)gAa>gTa	p.E323V		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	323										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ATCTGCCTCTTCCTGTAAGTC	0.428													52	182					0	0	0	0	A	47777156	T	A	47777156	3	1	320	1	0	0	0	0	1	0	0	0	2771	1783	62	5	592	5	CCDC11	18	47777156	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	38520355	47777156	30300092	148	57158											
PIGN	23556	broad.mit.edu	37	chr18	59742026	59742026	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaccaaagccataatgtCtgatatgacgagaacaatga	16	9	7	9	1	1	4	0	3	1	1	1	5	1	4	3	0	3	0	3	0	6	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:59742026C>A	ENST00000357637.5	-	29	3020	c.2605G>T	c.(2605-2607)Gac>Tac	p.D869Y	PIGN_ENST00000400334.3_Missense_Mutation_p.D869Y	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	869					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				GCCATAATGTCTGATATGACG	0.318													13	17					1.3612e-06	1.46129e-06	1	0	A	59742026	C	A	59742026	3	1	320	1	0	0	0	0	1	0	0	0	11965	913	32	2	202	2	PIGN	18	59742026	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	11964870	59742026	18335222	149	57159											
BTBD2	55643	broad.mit.edu	37	chr19	1993106	1993106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgagcgctggcaccgcgtaCttcttggcggtgtatagcgt	5	11	14	11	6	1	0	0	0	1	0	2	1	1	0	1	3	3	4	1	3	3	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:1993106C>T	ENST00000255608.4	-	3	613	c.597G>A	c.(595-597)aaG>aaA	p.K199K	BTBD2_ENST00000590646.1_5'UTR	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	199						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|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)		GCACCGCGTACTTCTTGGCGG	0.632													5	24					0	0	0	0	T	1993106	C	T	1993106	2	4	320	1	0	0	0	0	0	0	0	1	1552	564	20	4		4	BTBD2	19	1993106	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08		1993106	57135877	150	57160											
PLIN5	440503	broad.mit.edu	37	chr19	4523797	4523797	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctccacaaggatgggcgCgaagggtcccaccagccagg	9	4	14	14	3	0	0	0	0	0	0	3	2	2	1	4	4	1	1	4	4	2	0			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:4523797C>G	ENST00000381848.3	-	8	1215	c.1135G>C	c.(1135-1137)Gcg>Ccg	p.A379P		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	379						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						AGGATGGGCGCGAAGGGTCCC	0.751													12	25					0	0	0	0	G	4523797	C	G	4523797	3	3	320	1	0	0	0	0	1	0	0	0	12165	768	27	3	260	3	PLIN5	19	4523797	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	2530691	4523797	54605186	151	57161											
ZNF700	90592	broad.mit.edu	37	chr19	12060067	12060067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcctttcgatatcatgaaAggattcacactggagagaaa	14	11	9	7	1	2	2	2	1	0	1	4	6	3	4	1	2	0	1	1	2	3	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:12060067A>G	ENST00000482090.1	+	3	1592	c.1174A>G	c.(1174-1176)Agg>Ggg	p.R392G	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.R410G|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ATATCATGAAAGGATTCACAC	0.443													22	62					0	0	0	0	G	12060067	A	G	12060067	3	3	320	1	0	0	0	0	1	0	0	0	18199	63	3	5	1242	5	ZNF700	19	12060067	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	7536270	12060067	47068916	152	57162											
ZNF709	163051	broad.mit.edu	37	chr19	12575299	12575299	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaaaggctttaccacactgTttacattcatagggtttctc	10	15	6	10	0	2	0	1	0	1	0	3	0	2	0	1	2	2	3	1	2	5	8			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:12575299T>C	ENST00000397732.3	-	4	1608	c.1437A>G	c.(1435-1437)aaA>aaG	p.K479K	ZNF709_ENST00000428311.1_Silent_p.K479K|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TACCACACTGTTTACATTCAT	0.398													42	102					0	0	0	0	C	12575299	T	C	12575299	2	2	320	1	0	0	0	0	0	0	0	1	18208	1722	60	5		5	ZNF709	19	12575299	Silent	SNP	T	TCGA-CV-7432-01A-11D-2129-08	515232	12575299	46553684	153	57163											
MAP1S	55201	broad.mit.edu	37	chr19	17844128	17844128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcttccagcgcgtgcGcgcgctctgctacgtcatca	5	10	12	14	6	4	0	2	0	2	0	5	1	5	1	1	1	4	3	1	1	1	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:17844128G>T	ENST00000324096.4	+	6	3066	c.2915G>T	c.(2914-2916)cGc>cTc	p.R972L	MAP1S_ENST00000544059.2_Missense_Mutation_p.R946L|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	972	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CAGCGCGTGCGCGCGCTCTGC	0.672													8	12					0.00448238	0.00452369	1	0	T	17844128	G	T	17844128	3	4	320	1	0	0	0	0	1	0	0	0	9303	1087	38	3	2937	3	MAP1S	19	17844128	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	5268829	17844128	41284855	154	57164											
ZNF626	199777	broad.mit.edu	37	chr19	20807449	20807449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattttcttatgtgtagtaaGgttagaggagtacttaaaag	14	15	10	2	0	1	1	0	0	1	1	1	2	1	2	0	2	1	4	0	2	8	8			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:20807449G>T	ENST00000601440.1	-	4	1380	c.1234C>A	c.(1234-1236)Ctt>Att	p.L412I	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTGTAGTAAGGTTAGAGGAG	0.403													16	49					3.41278e-10	3.85257e-10	1	0	T	20807449	G	T	20807449	3	4	320	1	0	0	0	0	1	0	0	0	18145	1000	35	4	356	4	ZNF626	19	20807449	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	2963321	20807449	38321534	155	57165											
PTOV1	53635	broad.mit.edu	37	chr19	50361873	50361873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccaaggacctggagaCactgaagagcctgtgccgga	11	6	12	12	1	1	3	1	1	0	2	1	6	1	5	4	3	2	0	4	3	2	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:50361873C>T	ENST00000391842.1	+	10	1174	c.1004C>T	c.(1003-1005)aCa>aTa	p.T335I	PTOV1_ENST00000600603.1_Missense_Mutation_p.T303I|AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000598325.1_3'UTR|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000601638.1_Missense_Mutation_p.T303I|PTOV1_ENST00000601675.1_Missense_Mutation_p.T335I|PTOV1_ENST00000221557.9_Missense_Mutation_p.T303I|PTOV1_ENST00000599732.1_Missense_Mutation_p.T335I	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	335	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GACCTGGAGACACTGAAGAGC	0.667													4	9					0	0	0	0	T	50361873	C	T	50361873	3	4	320	1	0	0	0	0	1	0	0	0	12849	478	17	4	1042	4	PTOV1	19	50361873	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	29554424	50361873	8767110	156	57166											
ZNF845	91664	broad.mit.edu	37	chr19	53855800	53855800	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgttcataccttgcagtTcattggcgaactcatagtgg	9	13	9	10	2	3	0	3	0	0	0	4	1	3	0	1	2	3	3	1	2	3	6			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:53855800T>C	ENST00000458035.1	+	4	1989	c.1872T>C	c.(1870-1872)gtT>gtC	p.V624V	ZNF845_ENST00000595091.1_Silent_p.V624V	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTGCAGTTCATTGGCGAA	0.363													2	11					0	0	0	0	C	53855800	T	C	53855800	2	2	320	1	0	0	0	0	0	0	0	1	18284	1770	62	5		5	ZNF845	19	53855800	Silent	SNP	T	TCGA-CV-7432-01A-11D-2129-08	3493927	53855800	5273183	157	57167											
CACNG8	59283	broad.mit.edu	37	chr19	54466453	54466453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctggtgcgagaagggggtGcaggtgctgctgacgacggt	6	8	19	8	3	1	2	0	1	1	1	1	4	1	2	0	5	4	3	0	5	1	0			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr19:54466453G>A	ENST00000270458.2	+	1	160	c.57G>A	c.(55-57)gtG>gtA	p.V19V		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	19					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		AGAAGGGGGTGCAGGTGCTGC	0.682													6	13					0	0	0	0	A	54466453	G	A	54466453	2	1	320	1	0	0	0	0	0	0	0	1	2588	1306	46	4		4	CACNG8	19	54466453	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08	610653	54466453	4662530	158	57168											
LILRA2	11027	broad.mit.edu	37	chr19	55086773	55086773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccaggtcctatggtggccCccggggagagcctgaccctc	6	6	14	15	1	0	2	0	1	0	1	2	3	1	2	6	5	2	0	6	5	1	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:55086773C>T	ENST00000251377.3	+	6	839	c.706C>T	c.(706-708)Ccc>Tcc	p.P236S	LILRA2_ENST00000391737.1_Missense_Mutation_p.P224S|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P236S|LILRA2_ENST00000391738.3_Missense_Mutation_p.P236S					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TATGGTGGCCCCCGGGGAGAG	0.567													47	83					0	0	0	0	T	55086773	C	T	55086773	3	4	320	1	0	0	0	0	1	0	0	0	8839	623	22	4	724	4	LILRA2	19	55086773	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	620320	55086773	4042210	159	57169											
NLRP7	199713	broad.mit.edu	37	chr19	55450643	55450643	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtgtcctacttgaatcAggtcggggttcttgagtctt	8	14	12	7	1	3	3	1	2	2	1	5	3	4	3	1	3	1	1	1	3	3	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:55450643A>T	ENST00000446217.1	-	6	2030	c.1628T>A	c.(1627-1629)cTg>cAg	p.L543Q	NLRP7_ENST00000448121.2_Missense_Mutation_p.L515Q|NLRP7_ENST00000592784.1_Missense_Mutation_p.L515Q|NLRP7_ENST00000590030.1_Missense_Mutation_p.L515Q|NLRP7_ENST00000588756.1_Missense_Mutation_p.L515Q|NLRP7_ENST00000328092.5_Missense_Mutation_p.L515Q|NLRP7_ENST00000340844.2_Missense_Mutation_p.L515Q			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	515							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)		TACTTGAATCAGGTCGGGGTT	0.567													28	66					0	0	0	0	T	55450643	A	T	55450643	3	4	320	1	0	0	0	0	1	0	0	0	10552	188	7	5	1601	5	NLRP7	19	55450643	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	363870	55450643	3678340	160	57170											
NLRP4	147945	broad.mit.edu	37	chr19	56370318	56370318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaactggatgcgttttttgGcttccaactgtcccaagaga	11	12	9	9	1	0	1	0	0	0	1	2	3	2	2	2	2	3	2	2	2	4	4			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:56370318G>T	ENST00000301295.6	+	3	1981	c.1559G>T	c.(1558-1560)gGc>gTc	p.G520V	NLRP4_ENST00000587891.1_Missense_Mutation_p.G445V|NLRP4_ENST00000346986.5_Missense_Mutation_p.G520V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	520							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCGTTTTTTGGCTTCCAACTG	0.428													24	61					1.55469e-16	1.85042e-16	1	0	T	56370318	G	T	56370318	3	4	320	1	0	0	0	0	1	0	0	0	10549	1203	42	4	1565	4	NLRP4	19	56370318	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	919675	56370318	2758665	161	57171											
TMC2	117532	broad.mit.edu	37	chr20	2517943	2517943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagtgaaagggcgggtgaaGagcggctctccacacacagg	11	4	17	9	2	1	3	0	2	1	1	2	4	1	4	1	5	1	1	1	5	2	0			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr20:2517943G>A	ENST00000358864.1	+	2	78	c.63G>A	c.(61-63)aaG>aaA	p.K21K		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	21	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGCGGGTGAAGAGCGGCTCTC	0.632													6	14					0	0	0	0	A	2517943	G	A	2517943	2	1	320	1	0	0	0	0	0	0	0	1	16079	933	33	2		2	TMC2	20	2517943	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08		2517943	60507577	162	57172											
SIGLEC1	6614	broad.mit.edu	37	chr20	3684491	3684491	+	Frame_Shift_Del	DEL	G	G	-																															ctgaagatgtggaggctgatGgggggtgagaccaaagagcc																										TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:3684491delG	ENST00000344754.4	-	4	953	c.954delC	c.(952-954)ccfs	p.P318fs	SIGLEC1_ENST00000202578.4_Frame_Shift_Del_p.P318fs	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	318	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P318P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGAGGCTGATGGGGGGTGAGA	0.617													9	32	---	---	---	---					-	3684491	G	-	3684491	7	5	320	1	0	1	0	1	0	0	0	0	14393	1335	47	0	4247	0	SIGLEC1	20	3684491	Frame_Shift_Del	DEL	G	TCGA-CV-7432-01A-11D-2129-08	1166548	3684491	59341029	163	57173											
SNRPB2	6629	broad.mit.edu	37	chr20	16712386	16712386	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catacaatttatatcaacaaTatgaatgacaaaattaaaaa	23	11	2	5	0	1	2	1	2	0	0	1	2	1	2	0	0	2	0	0	0	13	6			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:16712386T>C	ENST00000246071.6	+	2	255	c.39T>C	c.(37-39)aaT>aaC	p.N13N	SNRPB2_ENST00000478522.1_3'UTR|SNRPB2_ENST00000377943.5_Silent_p.N13N	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	13	RRM 1.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						ATATCAACAATATGAATGACA	0.274													39	102					0	0	0	0	C	16712386	T	C	16712386	2	2	320	1	0	0	0	0	0	0	0	1	14950	1403	49	5		5	SNRPB2	20	16712386	Silent	SNP	T	TCGA-CV-7432-01A-11D-2129-08	13027895	16712386	46313134	164	57174											
CST11	140880	broad.mit.edu	37	chr20	23433318	23433318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccactgcaagctgtccttcGcatagttttctactgccatc	7	14	6	14	1	1	0	0	0	1	0	5	0	3	0	3	0	4	4	3	0	3	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:23433318G>A	ENST00000377009.3	-	1	164	c.131C>T	c.(130-132)gCg>gTg	p.A44V	CST11_ENST00000377007.3_Missense_Mutation_p.A44V	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	44					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GCTGTCCTTCGCATAGTTTTC	0.483													45	113					0	0	0	0	A	23433318	G	A	23433318	3	1	320	1	0	0	0	0	1	0	0	0	4003	1087	38	1	297	1	CST11	20	23433318	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	6720932	23433318	39592202	165	57175											
CST5	1473	broad.mit.edu	37	chr20	23860167	23860167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtactcgctgatggcaaaGtccagggcacactgcacact	10	9	10	12	1	0	1	0	1	0	0	2	1	1	1	1	2	2	5	1	2	2	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:23860167G>A	ENST00000304710.4	-	1	220	c.147C>T	c.(145-147)gaC>gaT	p.D49D		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	49						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TGATGGCAAAGTCCAGGGCAC	0.577													59	130					0	0	0	0	A	23860167	G	A	23860167	2	1	320	1	0	0	0	0	0	0	0	1	4007	1020	36	4		4	CST5	20	23860167	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08	426849	23860167	39165353	166	57176											
MYLK2	85366	broad.mit.edu	37	chr20	30414610	30414610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacacagcatcgagggcGgagagctcttcgagaggatt	10	7	15	9	3	1	2	0	0	1	2	3	6	1	3	0	3	3	3	0	3	0	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:30414610G>A	ENST00000375994.2	+	7	1366	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.G365R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	365	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATCGAGGGCGGAGAGCTCTT	0.587													9	25					0	0	0	0	A	30414610	G	A	30414610	3	1	320	1	0	0	0	0	1	0	0	0	10127	1117	39	1	1119	1	MYLK2	20	30414610	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	6554443	30414610	32610910	167	57177											
ASXL1	171023	broad.mit.edu	37	chr20	31021634	31021634	+	Frame_Shift_Del	DEL	C	C	-																															agaagccccggcttgaagatCgtcagtcctttcgtaacaca																								rs137920574	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:31021634delC	ENST00000375687.4	+	12	2057	c.1633delC	c.(1633-1635)gtfs	p.R545fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.R540fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	545					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GCTTGAAGATCGTCAGTCCTT	0.517			"F, N, Mis"		"MDS, CMML"								51	113	---	---	---	---					-	31021634	C	-	31021634	7	5	320	1	0	1	0	1	0	0	0	0	1070	884	31	0	1685	0	ASXL1	20	31021634	Frame_Shift_Del	DEL	C	TCGA-CV-7432-01A-11D-2129-08	607024	31021634	32003886	168	57178											
PTGIS	5740	broad.mit.edu	37	chr20	48124503	48124503	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtcgtgttccggctgcAtcagaccgaagccgtacctg	7	8	12	14	5	1	1	1	0	0	1	3	2	2	1	4	1	3	5	4	1	2	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:48124503A>G	ENST00000244043.4	-	10	1486	c.1457T>C	c.(1456-1458)aTg>aCg	p.M486T	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	486					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TTCCGGCTGCATCAGACCGAA	0.602													15	36					0	0	0	0	G	48124503	A	G	48124503	3	3	320	1	0	0	0	0	1	0	0	0	12832	217	8	5	49	5	PTGIS	20	48124503	Missense_Mutation	SNP	A	TCGA-CV-7432-01A-11D-2129-08	17102869	48124503	14901017	169	57179											
LAMA5	3911	broad.mit.edu	37	chr20	60893707	60893707	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcacccgggccagcaCtagccgagaccagggtgagg	8	4	14	15	2	0	2	0	1	0	1	1	3	1	2	5	3	3	2	5	3	1	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:60893707C>A	ENST00000252999.3	-	53	7109		c.e53-1			NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGGCCAGCACTAGCCGAGAC	0.677													18	23					5.3912e-06	5.70374e-06	1	0	A	60893707	C	A	60893707	5	1	320	1	0	0	0	0	0	0	1	0	8662	579	20	4	4157	4	LAMA5	20	60893707	Splice_Site	SNP	C	TCGA-CV-7432-01A-11D-2129-08	12769204	60893707	2131813	170	57180											
BTG3	10950	broad.mit.edu	37	chr21	18971032	18971032	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggatcctgaatgataaTcagaggtaaccttatcaagg	16	9	10	6	0	2	4	2	2	0	2	3	5	3	5	2	3	1	1	2	3	6	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr21:18971032T>A	ENST00000339775.6	-	5	707	c.554A>T	c.(553-555)gAt>gTt	p.D185V	BTG3_ENST00000348354.6_Missense_Mutation_p.D141V	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	141					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TGAATGATAATCAGAGGTAAC	0.423													12	25					0	0	0	0	A	18971032	T	A	18971032	3	1	320	1	0	0	0	0	1	0	0	0	1564	1435	50	5	344	5	BTG3	21	18971032	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08		18971032	29158863	171	57181											
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744360	31744360	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgggctcccagcagatctCctgacagcccctatagagag	9	7	12	13	0	1	3	0	1	1	2	3	4	2	3	4	2	2	2	4	2	2	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr21:31744360C>A	ENST00000399889.2	-	1	197	c.172G>T	c.(172-174)Gag>Tag	p.E58*		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	58	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CAGCAGATCTCCTGACAGCCC	0.612													12	53					0.000978159	0.000996357	1	0	A	31744360	C	A	31744360	4	1	320	1	0	0	0	0	0	1	0	0	8575	864	30	2	359	2	KRTAP13-2	21	31744360	Nonsense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	12773328	31744360	16385535	172	57182											
GGTLC2	91227	broad.mit.edu	37	chr22	22988902	22988902	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctactacaagcccgagttCtacacgccggttgatggggg	8	9	12	12	3	1	1	0	1	1	0	2	2	2	1	3	3	4	2	3	3	4	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr22:22988902C>G	ENST00000448514.1	+	1	87	c.87C>G	c.(85-87)ttC>ttG	p.F29L	GGTLC2_ENST00000480559.1_Missense_Mutation_p.F29L			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	29					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		AGCCCGAGTTCTACACGCCGG	0.607													13	15					0	0	0	0	G	22988902	C	G	22988902	3	3	320	1	0	0	0	0	1	0	0	0	6417	912	32	2	89	2	GGTLC2	22	22988902	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08		22988902	28315664	173	57183											
ASPHD2	57168	broad.mit.edu	37	chr22	26830196	26830196	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgtgagtttgagaccctCtacaaagctttctcaaactg	10	13	8	10	0	2	2	1	2	2	1	3	3	2	2	1	0	3	2	1	0	3	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr22:26830196C>T	ENST00000215906.5	+	2	1053	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	205					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTGAGACCCTCTACAAAGCTT	0.532													22	28					0	0	0	0	T	26830196	C	T	26830196	2	4	320	1	0	0	0	0	0	0	0	1	1059	900	32	2		2	ASPHD2	22	26830196	Silent	SNP	C	TCGA-CV-7432-01A-11D-2129-08	3841294	26830196	24474370	174	57184											
CACNA1I	8911	broad.mit.edu	37	chr22	40073401	40073401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcatctatgctgctctcgGggtggagctctttgggaagc	5	13	13	10	1	4	0	1	0	3	0	5	2	4	2	0	4	4	3	0	4	2	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr22:40073401G>T	ENST00000336649.4	+	33	4928	c.4928G>T	c.(4927-4929)gGg>gTg	p.G1643V	CACNA1I_ENST00000407673.1_Missense_Mutation_p.G1602V|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G1602V|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G1602V|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G1637V|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G1637V			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1637					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTGCTCTCGGGGTGGAGCTC	0.682													3	6					0.000602214	0.000619178	1	0	T	40073401	G	T	40073401	3	4	320	1	0	0	0	0	1	0	0	0	2571	1232	43	4	5028	4	CACNA1I	22	40073401	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	13243205	40073401	11231165	175	57185											
MXRA5	25878	broad.mit.edu	37	chrX	3238516	3238516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgtggaaaagaaagaGtcttgttggtaaagaaaggg	16	8	13	4	0	1	3	0	0	1	3	1	4	1	4	1	3	1	2	1	3	7	3			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:3238516G>A	ENST00000217939.6	-	5	5364	c.5210C>T	c.(5209-5211)aCt>aTt	p.T1737I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1737						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAAAGAAAGAGTCTTGTTGGT	0.463													4	10					0	0	0	0	A	3238516	G	A	3238516	3	1	320	1	0	0	0	0	1	0	0	0	10073	1029	36	4	3288	4	MXRA5	23	3238516	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08		3238516	152032044	176	57186											
CDKL5	6792	broad.mit.edu	37	chrX	18606257	18606257	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtaatcctcgcttccatggGctccgggtaagaggttttgc	7	12	12	10	2	0	1	0	0	0	1	4	1	3	1	3	3	1	5	3	3	2	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:18606257G>T	ENST00000379989.3	+	10	1023	c.738G>T	c.(736-738)ggG>ggT	p.G246G	CDKL5_ENST00000379996.3_Silent_p.G246G	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	246	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCTTCCATGGGCTCCGGGTAA	0.403													44	55					2.68985e-26	3.25457e-26	1	0	T	18606257	G	T	18606257	2	4	320	1	0	0	0	0	0	0	0	1	3186	1190	42	4		4	CDKL5	23	18606257	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08	15367741	18606257	136664303	177	57187											
FAM47C	442444	broad.mit.edu	37	chrX	37028110	37028111	+	Frame_Shift_Ins	INS	-	-	TA																															ggcacctcctgagagtagcgINStatctcatctccgcccagag																								rs143115052	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:37028110_37028111insTA	ENST00000358047.3	+	1	1679_1680	c.1627_1628insTA	c.(1627-1629)atcfs	p.I543fs		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	543										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGAGAGTAGCGTATCTCATCTC	0.619													8	69	---	---	---	---					TA	37028111	-	TA	37028110	7	5	320	1	0	1	1	0	0	0	0	0	5618	1145	40	0	1629	0	FAM47C	23	37028110	Frame_Shift_Ins	INS	-	TCGA-CV-7432-01A-11D-2129-08	18421853	37028110	118242450	178	57188											
FAM47C	442444	broad.mit.edu	37	chrX	37028185	37028185	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcctcccaagactcggatgTacagtctccgcccggagcct	8	7	10	16	3	1	1	0	0	1	1	4	3	2	3	5	2	3	1	5	2	2	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:37028185T>C	ENST00000358047.3	+	1	1754	c.1702T>C	c.(1702-1704)Tac>Cac	p.Y568H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	568										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GACTCGGATGTACAGTCTCCG	0.647													25	33					0	0	0	0	C	37028185	T	C	37028185	3	2	320	1	0	0	0	0	1	0	0	0	5618	1638	57	5	1704	5	FAM47C	23	37028185	Missense_Mutation	SNP	T	TCGA-CV-7432-01A-11D-2129-08	75	37028185	118242375	179	57189											
TBC1D25	4943	broad.mit.edu	37	chrX	48419318	48419318	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgattacctgcagtcagaGgtgtgggactcagaggaggg	9	8	17	7	0	2	3	2	1	0	2	2	5	2	5	1	4	2	2	1	4	1	1			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:48419318G>A	ENST00000376771.4	+	6	2363	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E	TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Silent_p.E420E	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	674						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGCAGTCAGAGGTGTGGGACT	0.597													14	8					0	0	0	0	A	48419318	G	A	48419318	2	1	320	1	0	0	0	0	0	0	0	1	15706	991	35	4		4	TBC1D25	23	48419318	Silent	SNP	G	TCGA-CV-7432-01A-11D-2129-08	11391133	48419318	106851242	180	57190											
GNL3L	54552	broad.mit.edu	37	chrX	54569430	54569430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatgtttcctcagctggatGacgaggccacgaggaaggct	10	9	13	9	2	1	1	1	1	0	0	2	5	2	3	2	4	1	3	2	4	2	2			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:54569430G>A	ENST00000336470.4	+	6	488	c.349G>A	c.(349-351)Gac>Aac	p.D117N	GNL3L_ENST00000489691.1_3'UTR|GNL3L_ENST00000360845.2_Missense_Mutation_p.D117N	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	117					ribosome biogenesis	nucleolus	GTP binding	p.D117N(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TCAGCTGGATGACGAGGCCAC	0.488													10	11					0	0	0	0	A	54569430	G	A	54569430	3	1	320	1	0	0	0	0	1	0	0	0	6589	1290	45	2	367	2	GNL3L	23	54569430	Missense_Mutation	SNP	G	TCGA-CV-7432-01A-11D-2129-08	6150112	54569430	100701130	181	57191											
MCF2	4168	broad.mit.edu	37	chrX	138687074	138687074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgtttccaaagagaatgtCctttttatttctcaggagag	11	15	8	7	0	1	2	1	0	1	2	4	4	3	2	2	1	0	1	2	1	3	5			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:138687074C>A	ENST00000520602.1	-	17	2092	c.1807G>T	c.(1807-1809)Gac>Tac	p.D603Y	MCF2_ENST00000536274.1_Missense_Mutation_p.D504Y|MCF2_ENST00000370573.4_Missense_Mutation_p.D543Y|MCF2_ENST00000370578.4_Missense_Mutation_p.D688Y|MCF2_ENST00000370576.4_Missense_Mutation_p.D543Y|MCF2_ENST00000338585.6_Missense_Mutation_p.D559Y|MCF2_ENST00000519895.1_Missense_Mutation_p.D619Y|MCF2_ENST00000414978.1_Missense_Mutation_p.D603Y			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	543	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AAGAGAATGTCCTTTTTATTT	0.313													54	58					1.27102e-15	1.48852e-15	1	0	A	138687074	C	A	138687074	3	1	320	1	0	0	0	0	1	0	0	0	9447	855	30	2	1226	2	MCF2	23	138687074	Missense_Mutation	SNP	C	TCGA-CV-7432-01A-11D-2129-08	84117644	138687074	16583486	182	57192											
TAS1R1	80835	broad.mit.edu	37	chr1	6639390	6639390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttgccagagaactacaacGaggccaaatgtgtcaccttc	13	8	8	12	1	1	1	1	0	0	1	2	3	1	1	3	1	4	0	3	1	4	3			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:6639390G>A	ENST00000333172.6	+	6	2465	c.2272G>A	c.(2272-2274)Gag>Aag	p.E758K	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.E504K	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	758					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAACTACAACGAGGCCAAATG	0.572													22	63					0	0	0	0	A	6639390	G	A	6639390	3	1	321	1	0	0	0	0	1	0	0	0	15653	1059	37	1	2294	1	TAS1R1	1	6639390	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08		6639390	242611231	1	57193											
SPEN	23013	broad.mit.edu	37	chr1	16257103	16257103	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctaaatccctctcttcAtctcgtgaagaaaattggtc	12	12	7	10	1	3	3	1	1	2	2	7	3	4	3	1	1	1	1	1	1	5	3			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:16257103A>G	ENST00000375759.3	+	11	4572	c.4368A>G	c.(4366-4368)tcA>tcG	p.S1456S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1456					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCTCTCTTCATCTCGTGAAG	0.368													13	114					0	0	0	0	G	16257103	A	G	16257103	2	3	321	1	0	0	0	0	0	0	0	1	15128	204	8	5		5	SPEN	1	16257103	Silent	SNP	A	TCGA-CV-7433-01A-11D-2129-08	9617713	16257103	232993518	2	57194											
IL12RB2	3595	broad.mit.edu	37	chr1	67787482	67787482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaattctcaagtcacaggtCttccccttggtacaaccttg	9	13	6	13	0	4	0	3	0	2	0	6	0	5	0	3	2	2	1	3	2	4	5			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:67787482C>G	ENST00000262345.1	+	3	914	c.274C>G	c.(274-276)Ctt>Gtt	p.L92V	IL12RB2_ENST00000544434.1_Missense_Mutation_p.L92V|IL12RB2_ENST00000371000.1_Missense_Mutation_p.L92V|IL12RB2_ENST00000541374.1_Missense_Mutation_p.L92V	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	92					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AGTCACAGGTCTTCCCCTTGG	0.423													14	190					0	0	0	0	G	67787482	C	G	67787482	3	3	321	1	0	0	0	0	1	0	0	0	7680	913	32	2	280	2	IL12RB2	1	67787482	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	51530379	67787482	181463139	3	57195											
RPAP2	79871	broad.mit.edu	37	chr1	92789160	92789160	+	Missense_Mutation	SNP	T	T	A																															agactttgtttcctccattcTaccaggaaacagaccaaatt																										TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:92789160T>A	ENST00000370343.3	+	8	792	c.683T>A	c.(682-684)cTa>cAa	p.L228Q	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	228						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TCCTCCATTCTACCAGGAAAC	0.383													18	114					0	0	0	0	A	92789160	T	A	92789160	3	1	321	1	0	0	0	0	1	0	0	0	13627	1522	53	5	713	5	RPAP2	1	92789160	Missense_Mutation	SNP	T	TCGA-CV-7433-01A-11D-2129-08	25001678	92789160	156461461	4	57196	466	2									
RPAP2	79871	broad.mit.edu	37	chr1	92789163	92789163	+	Missense_Mutation	SNP	C	C	A																															ctttgtttcctccattctacCaggaaacagaccaaattcaa																										TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:92789163C>A	ENST00000370343.3	+	8	795	c.686C>A	c.(685-687)cCa>cAa	p.P229Q	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	229						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TCCATTCTACCAGGAAACAGA	0.383													17	115					1.15088e-07	1.25034e-07	1	0	A	92789163	C	A	92789163	3	1	321	1	0	0	0	0	1	0	0	0	13627	594	21	4	716	4	RPAP2	1	92789163	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	3	92789163	156461458	5	57197	466	2									
DENND4B	9909	broad.mit.edu	37	chr1	153907281	153907281	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgctgacacctgctcctGctgctgctgctgctgctgct	3	13	11	14	0	0	1	0	1	0	0	1	1	1	1	2	0	9	9	2	0	0	0	rs3835302		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:153907281G>C	ENST00000361217.4	-	18	3146	c.2728C>G	c.(2728-2730)Cag>Gag	p.Q910E		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	910	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACctgctcctgctgctgctgc	0.637													5	49					0	0	0	0	C	153907281	G	C	153907281	3	2	321	1	0	0	0	0	1	0	0	0	4471	1328	46	4	1806	4	DENND4B	1	153907281	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	61118118	153907281	95343340	6	57198											
SSR2	6746	broad.mit.edu	37	chr1	155989899	155989899	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagccaaaagcctggcTccttcctctgcttgagtgac	8	11	10	12	0	1	2	0	2	1	0	3	3	3	3	4	2	3	2	4	2	3	3			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:155989899T>A	ENST00000295702.4	-	2	131	c.60A>T	c.(58-60)ggA>ggT	p.G20G	SSR2_ENST00000529008.1_Silent_p.G20G|SSR2_ENST00000496742.1_Silent_p.G20G|SSR2_ENST00000480567.1_Silent_p.G20G	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	20					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAAGCCTGGCTCCTTCCTCTG	0.468													17	60					0	0	0	0	A	155989899	T	A	155989899	2	1	321	1	0	0	0	0	0	0	0	1	15281	1538	54	5		5	SSR2	1	155989899	Silent	SNP	T	TCGA-CV-7433-01A-11D-2129-08	2082618	155989899	93260722	7	57199											
F11R	50848	broad.mit.edu	37	chr1	160990822	160990822	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaggatcgccaatatgaaGaggcacaacagtttcctctc	14	8	8	11	1	1	2	0	1	1	1	4	3	2	3	2	2	2	2	2	2	5	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:160990822G>C	ENST00000368026.6	-	1	316	c.42C>G	c.(40-42)ctC>ctG	p.L14L	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Silent_p.L14L	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	14					blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CCAATATGAAGAGGCACAACA	0.587													9	35					0	0	0	0	C	160990822	G	C	160990822	2	2	321	1	0	0	0	0	0	0	0	1	5376	929	33	2		2	F11R	1	160990822	Silent	SNP	G	TCGA-CV-7433-01A-11D-2129-08	5000923	160990822	88259799	8	57200											
CFHR1	3078	broad.mit.edu	37	chr1	196796099	196796099	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaacatttcatgtgtagaaCggggctggtccacccctccc	9	9	9	14	1	1	1	1	0	0	1	3	1	3	1	4	3	2	2	4	3	3	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:196796099C>A	ENST00000320493.5	+	3	482	c.394C>A	c.(394-396)Cgg>Agg	p.R132R	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Silent_p.R132R	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	132	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ATGTGTAGAACGGGGCTGGTC	0.393													19	78					3.32936e-07	3.59489e-07	1	0	A	196796099	C	A	196796099	2	1	321	1	0	0	0	0	0	0	0	1	3313	527	19	3		3	CFHR1	1	196796099	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08	35805277	196796099	52454522	9	57201											
C1orf101	257044	broad.mit.edu	37	chr1	244681992	244681992	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattcttcaaatgagaaaatGagaagggggtatttaatttt	15	15	9	2	0	2	2	1	2	1	2	2	4	2	2	0	2	0	1	0	2	7	8			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:244681992G>C	ENST00000366534.4	+	8	582	c.528G>C	c.(526-528)atG>atC	p.M176I	C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.M176I|C1orf101_ENST00000366531.3_Missense_Mutation_p.M25I	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	176						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATGAGAAAATGAGAAGGGGGt	0.299													10	62					0	0	0	0	C	244681992	G	C	244681992	3	2	321	1	0	0	0	0	1	0	0	0	1995	1290	45	2	558	2	C1orf101	1	244681992	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	47885893	244681992	4568629	10	57202											
NLRP3	114548	broad.mit.edu	37	chr1	247588376	247588376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaaaaggaaggaaggaCgaacgttccagggagtcgtt	15	5	16	5	3	0	1	0	0	0	1	2	7	1	6	1	5	1	2	1	5	5	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:247588376C>T	ENST00000366497.2	+	4	2411	c.1631C>T	c.(1630-1632)aCg>aTg	p.T544M	NLRP3_ENST00000391827.2_Missense_Mutation_p.T544M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.T544M|NLRP3_ENST00000336119.3_Missense_Mutation_p.T544M|NLRP3_ENST00000348069.2_Missense_Mutation_p.T544M|NLRP3_ENST00000366496.2_Missense_Mutation_p.T544M	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	544					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.T544M(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAGGAAGGACGAACGTTCCA	0.473													8	49					0	0	0	0	T	247588376	C	T	247588376	3	4	321	1	0	0	0	0	1	0	0	0	10548	536	19	1	1641	1	NLRP3	1	247588376	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	2906384	247588376	1662245	11	57203											
ID2	3398	broad.mit.edu	37	chr2	8822625	8822625	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaccctcaacacggatatCagcatcctgtccttgcaggt	10	9	7	15	1	2	0	2	0	0	0	4	1	4	1	4	2	3	2	4	2	2	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:8822625C>T	ENST00000234091.4	+	3	1190	c.330C>T	c.(328-330)atC>atT	p.I110I	ID2_ENST00000396290.1_Silent_p.I110I|ID2_ENST00000331129.3_Silent_p.I110I			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	110					cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACACGGATATCAGCATCCTGT	0.652													5	67					0	0	0	0	T	8822625	C	T	8822625	2	4	321	1	0	0	0	0	0	0	0	1	7543	816	29	2		2	ID2	2	8822625	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08		8822625	234376748	12	57204											
ROCK2	9475	broad.mit.edu	37	chr2	11341183	11341183	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttctctttttccaaatcaGaatattgttcttcagcaatt	10	19	3	9	0	5	1	2	0	3	1	7	1	6	1	1	0	1	2	1	0	4	8			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:11341183G>C	ENST00000315872.6	-	23	3258	c.2810C>G	c.(2809-2811)tCt>tGt	p.S937C	ROCK2_ENST00000401753.1_Missense_Mutation_p.S694C	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	937					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTCCAAATCAGAATATTGTTC	0.413													16	143					0	0	0	0	C	11341183	G	C	11341183	3	2	321	1	0	0	0	0	1	0	0	0	13603	942	33	2	1400	2	ROCK2	2	11341183	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	2518558	11341183	231858190	13	57205											
CLIP4	79745	broad.mit.edu	37	chr2	29356553	29356553	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctgtaaaatttgcaactCagcttattgacctgggagca	12	11	9	9	0	1	1	1	1	0	0	1	2	1	2	1	1	5	5	1	1	4	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:29356553C>G	ENST00000320081.5	+	5	655	c.400C>G	c.(400-402)Cag>Gag	p.Q134E	CLIP4_ENST00000401617.2_Missense_Mutation_p.Q27E|CLIP4_ENST00000401605.1_Missense_Mutation_p.Q134E|CLIP4_ENST00000404424.1_Missense_Mutation_p.Q134E	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	134										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATTTGCAACTCAGCTTATTGA	0.368													15	42					0	0	0	0	G	29356553	C	G	29356553	3	3	321	1	0	0	0	0	1	0	0	0	3565	827	29	2	414	2	CLIP4	2	29356553	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	18015370	29356553	213842820	14	57206											
MSH6	2956	broad.mit.edu	37	chr2	48026701	48026714	+	Frame_Shift_Del	DEL	CTGGAAGGTGATCC	CTGGAAGGTGATCC	-																															gtacacagacttacagtgtgCtggaaggtgatccctctgag																								rs63751090		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:48026701_48026714delCTGGAAGGTGATCC	ENST00000234420.4	+	4	1731_1744	c.1579_1592delCTGGAAGGTGATCC	c.(1579-1593)cfs	p.LEGDP527fs	MSH6_ENST00000540021.1_Frame_Shift_Del_p.LEGDP397fs|MSH6_ENST00000538136.1_Frame_Shift_Del_p.LEGDP225fs|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	527					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTACAGTGTGCTGGAAGGTGATCCCTCTGAGAAC	0.435			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				11	85	---	---	---	---					-	48026714	CTGGAAGGTGATCC	-	48026701	7	5	321	1	0	1	0	1	0	0	0	0	9944	796	28	0	1593	0	MSH6	2	48026701	Frame_Shift_Del	DEL	CTGGAAGGTGATCC	TCGA-CV-7433-01A-11D-2129-08	18670148	48026701	195172672	15	57207											
RTN4	57142	broad.mit.edu	37	chr2	55252633	55252633	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatgtagggaactcatctaTaatttcaattggagatgaat	15	13	8	5	0	3	2	2	1	1	1	3	4	3	3	0	2	1	1	0	2	7	5			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:55252633T>C	ENST00000337526.6	-	3	2845	c.2602A>G	c.(2602-2604)Ata>Gta	p.I868V	RTN4_ENST00000394611.2_Missense_Mutation_p.I662V|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.I662V|RTN4_ENST00000405240.1_Missense_Mutation_p.I662V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.I662V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.I636V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	868					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AACTCATCTATAATTTCAATT	0.333													21	86					0	0	0	0	C	55252633	T	C	55252633	3	2	321	1	0	0	0	0	1	0	0	0	13813	1406	49	5	1042	5	RTN4	2	55252633	Missense_Mutation	SNP	T	TCGA-CV-7433-01A-11D-2129-08	7225932	55252633	187946740	16	57208											
SNRNP27	11017	broad.mit.edu	37	chr2	70131458	70131458	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgagaattgaagtgttgaagGatgattttttttcccctcat	10	17	9	5	0	1	4	1	4	0	1	2	6	2	5	2	1	0	1	2	1	3	6			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:70131458G>C	ENST00000409116.1	+	5	447	c.421G>C	c.(421-423)Gat>Cat	p.D141H	SNRNP27_ENST00000244227.3_3'UTR			Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	0					mRNA processing|RNA splicing	nucleus	nucleic acid binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AGTGTTGAAGGATGATTTTTT	0.348													7	64					0	0	0	0	C	70131458	G	C	70131458	3	2	321	1	0	0	0	0	1	0	0	0	14942	1189	41	2		2	SNRNP27	2	70131458	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	14878825	70131458	173067915	17	57209											
STAM2	10254	broad.mit.edu	37	chr2	152989924	152989924	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagggaccctacctcatctaTataaacaggctcaggctctg	11	9	9	12	0	4	0	2	0	2	0	4	2	4	1	2	3	2	2	2	3	5	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:152989924T>C	ENST00000263904.4	-	9	1223	c.874A>G	c.(874-876)Ata>Gta	p.I292V		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	292					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACCTCATCTATATAAACAGGC	0.318													24	106					0	0	0	0	C	152989924	T	C	152989924	3	2	321	1	0	0	0	0	1	0	0	0	15339	1406	49	5	727	5	STAM2	2	152989924	Missense_Mutation	SNP	T	TCGA-CV-7433-01A-11D-2129-08	82858466	152989924	90209449	18	57210											
PKP4	8502	broad.mit.edu	37	chr2	159433849	159433849	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agattgttgccagtcagctaGaaagatgtaggcttggagca	12	10	13	6	0	1	3	1	0	0	3	1	4	1	4	1	2	3	5	1	2	3	5			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:159433849G>C	ENST00000389757.3	+	3	324	c.199G>C	c.(199-201)Gaa>Caa	p.E67Q	PKP4_ENST00000389759.3_Missense_Mutation_p.E67Q	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	67					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CAGTCAGCTAGAAAGATGTAG	0.478										HNSCC(62;0.18)			6	33					0	0	0	0	C	159433849	G	C	159433849	3	2	321	1	0	0	0	0	1	0	0	0	12059	943	33	2	205	2	PKP4	2	159433849	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	6443925	159433849	83765524	19	57211											
SATB2	23314	broad.mit.edu	37	chr2	200245204	200245204	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcaagtcttccaacttTgaacaactgcaaaacagagc	15	7	8	11	0	1	2	0	1	1	1	2	2	2	2	1	1	6	3	1	1	6	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:200245204T>A	ENST00000443023.1	-	4	1768	c.303A>T	c.(301-303)tcA>tcT	p.S101S	SATB2_ENST00000260926.5_Silent_p.S160S|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000457245.1_Silent_p.S160S|SATB2_ENST00000417098.1_Silent_p.S160S			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	160						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTCCAACTTTGAACAACTGC	0.483													8	84					0	0	0	0	A	200245204	T	A	200245204	2	1	321	1	0	0	0	0	0	0	0	1	13940	1799	63	5		5	SATB2	2	200245204	Silent	SNP	T	TCGA-CV-7433-01A-11D-2129-08	40811355	200245204	42954169	20	57212											
SLC22A14	9389	broad.mit.edu	37	chr3	38349184	38349184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcatctcgcagtcagtggtgGgctacgccatcagcagcatt	8	9	12	12	2	3	0	2	0	1	0	4	0	3	0	1	2	3	5	1	2	1	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:38349184G>A	ENST00000273173.4	+	3	839	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	SLC22A14_ENST00000448498.1_Missense_Mutation_p.G250S	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	250						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GTCAGTGGTGGGCTACGCCAT	0.577													34	100					0	0	0	0	A	38349184	G	A	38349184	3	1	321	1	0	0	0	0	1	0	0	0	14533	1232	43	4	758	4	SLC22A14	3	38349184	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08		38349184	159673246	21	57213											
PFKFB4	5210	broad.mit.edu	37	chr3	48560992	48560992	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgccacaggagtcagcttCaggactgtgtgcagcggaca	10	8	13	10	1	2	0	2	0	0	0	2	3	2	3	1	3	4	2	1	3	1	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:48560992C>G	ENST00000232375.3	-	12	1375	c.1263G>C	c.(1261-1263)ctG>ctC	p.L421L	PFKFB4_ENST00000383734.2_Silent_p.L386L|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Silent_p.L387L|PFKFB4_ENST00000536104.1_Silent_p.L410L|PFKFB4_ENST00000416568.1_Silent_p.L414L	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	421	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GAGTCAGCTTCAGGACTGTGT	0.522													10	69					0	0	0	0	G	48560992	C	G	48560992	2	3	321	1	0	0	0	0	0	0	0	1	11835	813	29	2		2	PFKFB4	3	48560992	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08	10211808	48560992	149461438	22	57214											
BOC	91653	broad.mit.edu	37	chr3	112987215	112987215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggaaacacagcagtcattgCctgccacctgcctgagagcc	10	6	11	14	0	1	1	1	1	0	1	1	3	1	2	5	1	6	1	5	1	1	1	rs139434929		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:112987215C>T	ENST00000495514.1	+	5	1150	c.446C>T	c.(445-447)gCc>gTc	p.A149V	BOC_ENST00000273395.4_Missense_Mutation_p.A149V|BOC_ENST00000355385.3_Missense_Mutation_p.A149V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	149	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCAGTCATTGCCTGCCACCTG	0.572													3	15					0	0	0	0	T	112987215	C	T	112987215	3	4	321	1	0	0	0	0	1	0	0	0	1486	739	26	4	456	4	BOC	3	112987215	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	64426223	112987215	85035215	23	57215											
MCM2	4171	broad.mit.edu	37	chr3	127339922	127339922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttttcctgcagacttttGcccgctacctttcattccgg	4	17	6	14	2	1	1	1	0	0	1	3	1	3	1	4	1	3	2	4	1	1	8			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:127339922G>T	ENST00000265056.7	+	15	2699	c.2455G>T	c.(2455-2457)Gcc>Tcc	p.A819S	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	819					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GCAGACTTTTGCCCGCTACCT	0.547													18	194					3.41278e-10	3.75406e-10	1	0	T	127339922	G	T	127339922	3	4	321	1	0	0	0	0	1	0	0	0	9455	1319	46	4	2513	4	MCM2	3	127339922	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	14352707	127339922	70682508	24	57216											
PLSCR4	57088	broad.mit.edu	37	chr3	145913005	145913005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcagcatctgccattgctGataacaaaccattccacttc	11	11	6	13	0	2	1	1	1	1	0	4	1	3	1	3	1	5	2	3	1	2	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:145913005G>A	ENST00000354952.2	-	8	1091	c.851C>T	c.(850-852)tCa>tTa	p.S284L	PLSCR4_ENST00000383083.2_Missense_Mutation_p.S194L|PLSCR4_ENST00000493382.1_Missense_Mutation_p.S284L|PLSCR4_ENST00000433593.2_Missense_Mutation_p.S179L|PLSCR4_ENST00000446574.2_Missense_Mutation_p.S284L	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	284					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TGCCATTGCTGATAACAAACC	0.423													21	111					0	0	0	0	A	145913005	G	A	145913005	3	1	321	1	0	0	0	0	1	0	0	0	12184	1294	45	2	146	2	PLSCR4	3	145913005	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	18573083	145913005	52109425	25	57217											
SSR3	6747	broad.mit.edu	37	chr3	156272786	156272786	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaacgcgtttccgaagaaGagcgcggaggacttggccga	11	6	15	9	6	0	3	0	1	0	2	1	7	1	5	2	3	2	1	2	3	3	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:156272786G>C	ENST00000265044.2	-	1	187	c.93C>G	c.(91-93)ctC>ctG	p.L31L	SSR3_ENST00000467789.1_Silent_p.L31L|SSR3_ENST00000476217.1_Silent_p.L31L	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	31					cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTCCGAAGAAGAGCGCGGAGG	0.637													3	30					0	0	0	0	C	156272786	G	C	156272786	2	2	321	1	0	0	0	0	0	0	0	1	15282	929	33	2		2	SSR3	3	156272786	Silent	SNP	G	TCGA-CV-7433-01A-11D-2129-08	10359781	156272786	41749644	26	57218											
FAM131A	131408	broad.mit.edu	37	chr3	184062544	184062547	+	Frame_Shift_Del	DEL	TGGG	TGGG	-																															ggaaagtgccttccgcagccTgggcccactggaggcccagg																								rs145523198	byFrequency	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:184062544_184062547delTGGG	ENST00000310585.4	+	3	2158_2161	c.794_797delTGGG	c.(793-798)ccfs	p.LG265fs	FAM131A_ENST00000340957.5_Frame_Shift_Del_p.LG211fs|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000453072.1_Frame_Shift_Del_p.LG211fs|FAM131A_ENST00000418281.1_Frame_Shift_Del_p.LG173fs|FAM131A_ENST00000450976.1_Frame_Shift_Del_p.LG211fs|FAM131A_ENST00000383847.2_Frame_Shift_Del_p.LG296fs			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	265						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCCGCAGCCTGGGCCCACTGGAG	0.691													11	181	---	---	---	---					-	184062547	TGGG	-	184062544	7	5	321	1	0	1	0	1	0	0	0	0	5480	1580	55	0	909	0	FAM131A	3	184062544	Frame_Shift_Del	DEL	TGGG	TCGA-CV-7433-01A-11D-2129-08	27789758	184062544	13959886	27	57219											
GABRA4	2557	broad.mit.edu	37	chr4	46979498	46979498	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagctgtcatattatgtgaGacagatttctttccattcct	9	16	8	8	0	2	2	1	1	1	2	4	4	4	3	2	1	1	1	2	1	2	5			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:46979498G>C	ENST00000264318.3	-	4	1405	c.423C>G	c.(421-423)gtC>gtG	p.V141V		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	141					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATTATGTGAGACAGATTTCT	0.328													7	68					0	0	0	0	C	46979498	G	C	46979498	2	2	321	1	0	0	0	0	0	0	0	1	6211	929	33	2		2	GABRA4	4	46979498	Silent	SNP	G	TCGA-CV-7433-01A-11D-2129-08		46979498	144174778	28	57220											
DCK	1633	broad.mit.edu	37	chr4	71892453	71892453	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagactttaaagacaaatAtgaaagtctggttgaaaagg	18	10	10	3	0	1	5	0	3	1	2	1	5	1	5	0	2	0	1	0	2	8	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:71892453A>T	ENST00000286648.5	+	6	1134	c.737A>T	c.(736-738)tAt>tTt	p.Y246F	DCK_ENST00000504730.1_3'UTR|DCK_ENST00000504952.1_Missense_Mutation_p.Y246F	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	246					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	AAAGACAAATATGAAAGTCTG	0.294													10	50					0	0	0	0	T	71892453	A	T	71892453	3	4	321	1	0	0	0	0	1	0	0	0	4322	449	16	5	759	5	DCK	4	71892453	Missense_Mutation	SNP	A	TCGA-CV-7433-01A-11D-2129-08	24912955	71892453	119261823	29	57221											
AFM	173	broad.mit.edu	37	chr4	74350051	74350051	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctggtgaaagacatggtaGaatacaaagacagatgtatg	17	8	12	4	0	0	5	0	1	0	4	0	5	0	5	0	2	2	3	0	2	6	3			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:74350051G>C	ENST00000226355.3	+	3	307	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	72	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGACATGGTAGAATACAAAGA	0.388													14	94					0	0	0	0	C	74350051	G	C	74350051	3	2	321	1	0	0	0	0	1	0	0	0	361	943	33	2	224	2	AFM	4	74350051	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	2457598	74350051	116804225	30	57222											
BTC	685	broad.mit.edu	37	chr4	75673268	75673268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttaagcaatatttgtctCttcaatatcttcattgatag	12	18	4	7	0	4	1	2	1	2	0	5	1	4	1	0	0	1	1	0	0	6	9			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:75673268C>T	ENST00000395743.3	-	5	880	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	174					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			ATATTTGTCTCTTCAATATCT	0.338													9	58					0	0	0	0	T	75673268	C	T	75673268	3	4	321	1	0	0	0	0	1	0	0	0	1558	922	32	2	20	2	BTC	4	75673268	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	1323217	75673268	115481008	31	57223											
CNOT6L	246175	broad.mit.edu	37	chr4	78697453	78697453	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaattctgcccagtgagaTtttttcccattggctacctc	7	16	6	12	0	2	1	0	1	2	1	4	2	3	1	3	1	2	1	3	1	2	7			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:78697453T>C	ENST00000504123.1	-	2	229	c.99A>G	c.(97-99)aaA>aaG	p.K33K	CNOT6L_ENST00000264903.4_Silent_p.K33K|CNOT6L_ENST00000506166.1_5'UTR			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	33					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CCCAGTGAGATTTTTTCCCAT	0.373													27	131					0	0	0	0	C	78697453	T	C	78697453	2	2	321	1	0	0	0	0	0	0	0	1	3653	1490	52	5		5	CNOT6L	4	78697453	Silent	SNP	T	TCGA-CV-7433-01A-11D-2129-08	3024185	78697453	112456823	32	57224											
HELQ	113510	broad.mit.edu	37	chr4	84350691	84350691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttacccttaaatgaagcaCgtcccaactttgtaatatga	13	13	5	10	1	1	2	0	2	1	0	2	2	2	2	2	0	3	2	2	0	7	5			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:84350691C>T	ENST00000295488.3	-	12	2666	c.2504G>A	c.(2503-2505)cGt>cAt	p.R835H	HELQ_ENST00000510985.1_Missense_Mutation_p.R768H	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	835							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AAATGAAGCACGTCCCAACTT	0.313								Other identified genes with known or suspected DNA repair function					7	68					0	0	0	0	T	84350691	C	T	84350691	3	4	321	1	0	0	0	0	1	0	0	0	7097	536	19	1	829	1	HELQ	4	84350691	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	5653238	84350691	106803585	33	57225											
NPY1R	4886	broad.mit.edu	37	chr4	164246608	164246608	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaaatcacaaaagttgaaGaagaactgcaagtctctctg	16	8	9	8	1	3	3	1	1	2	2	4	4	3	4	0	1	2	2	0	1	7	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:164246608G>C	ENST00000296533.2	-	3	1533	c.1002C>G	c.(1000-1002)ttC>ttG	p.F334L	NPY1R_ENST00000509586.1_Missense_Mutation_p.F91L	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	334					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAAAGTTGAAGAAGAACTGCA	0.418													24	128					0	0	0	0	C	164246608	G	C	164246608	3	2	321	1	0	0	0	0	1	0	0	0	10679	933	33	2	156	2	NPY1R	4	164246608	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	79895917	164246608	26907668	34	57226											
SLC6A19	340024	broad.mit.edu	37	chr5	1212490	1212490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacgctcaacatctccaCgtccatcagcgactcgggct	10	7	9	15	4	3	1	2	0	1	1	6	3	4	1	2	1	2	2	2	1	1	0			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:1212490C>T	ENST00000304460.10	+	4	610	c.554C>T	c.(553-555)aCg>aTg	p.T185M		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	185					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AACATCTCCACGTCCATCAGC	0.617													18	122					0	0	0	0	T	1212490	C	T	1212490	3	4	321	1	0	0	0	0	1	0	0	0	14770	536	19	1	568	1	SLC6A19	5	1212490	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08		1212490	179702770	35	57227											
SLC6A3	6531	broad.mit.edu	37	chr5	1432607	1432607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcagcaggtgtggtccCaaaagtgtcgttgaggcccg	7	8	15	11	3	0	1	0	1	0	0	3	1	1	1	2	4	1	3	2	4	2	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:1432607C>A	ENST00000270349.9	-	4	752	c.625G>T	c.(625-627)Ggg>Tgg	p.G209W	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G209W	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	209					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGTGTGGTCCCAAAAGTGTCG	0.612													12	36					5.16669e-11	5.7191e-11	1	0	A	1432607	C	A	1432607	3	1	321	1	0	0	0	0	1	0	0	0	14773	594	21	4	1285	4	SLC6A3	5	1432607	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	220117	1432607	179482653	36	57228											
RICTOR	253260	broad.mit.edu	37	chr5	38957791	38957791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgttttgctacataacctCtttcattcagataggaaaat	13	16	5	7	0	3	1	2	0	1	1	3	2	3	2	1	1	3	2	1	1	5	8			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:38957791C>T	ENST00000357387.3	-	25	2492	c.2462G>A	c.(2461-2463)aGa>aAa	p.R821K	RICTOR_ENST00000503698.1_5'UTR|RICTOR_ENST00000296782.5_Missense_Mutation_p.R821K	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	821					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TACATAACCTCTTTCATTCAG	0.308													12	93					0	0	0	0	T	38957791	C	T	38957791	3	4	321	1	0	0	0	0	1	0	0	0	13441	913	32	2	2720	2	RICTOR	5	38957791	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	37525184	38957791	141957469	37	57229											
TTC33	23548	broad.mit.edu	37	chr5	40716521	40716521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgctgctcctggagcgttCttgcccaagagaggtcttct	5	13	11	12	1	4	1	0	0	4	1	5	3	5	2	2	2	4	3	2	2	1	3			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:40716521C>T	ENST00000337702.4	-	5	667	c.515G>A	c.(514-516)aGa>aAa	p.R172K	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	172							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CTGGAGCGTTCTTGCCCAAGA	0.423													11	150					0	0	0	0	T	40716521	C	T	40716521	3	4	321	1	0	0	0	0	1	0	0	0	16798	913	32	2	277	2	TTC33	5	40716521	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	1758730	40716521	140198739	38	57230											
CARD6	84674	broad.mit.edu	37	chr5	40854219	40854219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggcttcaaatccagctCtccaaatagggtcccatccc	9	9	9	14	0	2	0	1	0	1	0	6	0	5	0	4	3	1	2	4	3	3	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:40854219C>A	ENST00000254691.5	+	3	2984	c.2785C>A	c.(2785-2787)Ctc>Atc	p.L929I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	929					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAATCCAGCTCTCCAAATAGG	0.507													37	154					2.09667e-21	2.42772e-21	1	0	A	40854219	C	A	40854219	3	1	321	1	0	0	0	0	1	0	0	0	2675	913	32	2	2795	2	CARD6	5	40854219	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	137698	40854219	140061041	39	57231											
RGS7BP	401190	broad.mit.edu	37	chr5	63871704	63871704	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctaaaatccatatgtctgCtggggtctcttcagtttcat	8	16	8	9	0	4	0	2	0	2	0	6	0	5	0	1	2	2	3	1	2	3	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:63871704C>T	ENST00000334025.2	+	3	762	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	146					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CATATGTCTGCTGGGGTCTCT	0.418													6	93					0	0	0	0	T	63871704	C	T	63871704	2	4	321	1	0	0	0	0	0	0	0	1	13394	796	28	4		4	RGS7BP	5	63871704	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08	23017485	63871704	117043556	40	57232											
CXCL14	9547	broad.mit.edu	37	chr5	134910294	134910294	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccaggcgttgtaccacttGatgaagcgcttggtgctctg	6	13	12	10	2	1	2	0	2	1	0	2	2	2	2	2	2	3	4	2	2	2	5			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:134910294G>C	ENST00000337225.5	-	3	752	c.288C>G	c.(286-288)atC>atG	p.I96M	CXCL14_ENST00000512158.1_Missense_Mutation_p.I84M|CTC-321K16.1_ENST00000509372.1_RNA	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	96					cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTACCACTTGATGAAGCGCT	0.602													4	48					0	0	0	0	C	134910294	G	C	134910294	3	2	321	1	0	0	0	0	1	0	0	0	4114	1280	45	2	55	2	CXCL14	5	134910294	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	71038590	134910294	46004966	41	57233											
PCDHB7	56129	broad.mit.edu	37	chr5	140552561	140552561	+	Missense_Mutation	SNP	G	G	C																															gcacctttcttaccaacttgGcaaaagacctagggttaggg																										TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:140552561G>C	ENST00000231137.3	+	1	319	c.145G>C	c.(145-147)Gca>Cca	p.A49P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		49	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCAACTTGGCAAAAGACCT	0.493													13	92					0	0	0	0	C	140552561	G	C	140552561	3	2	321	1	0	0	0	0	1	0	0	0	11618	1203	42	4	147	4	PCDHB7	5	140552561	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	5642267	140552561	40362699	42	57234	467	2									
PCDHB7	56129	broad.mit.edu	37	chr5	140552562	140552562	+	Missense_Mutation	SNP	C	C	T																															cacctttcttaccaacttggCaaaagacctagggttagggg																										TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:140552562C>T	ENST00000231137.3	+	1	320	c.146C>T	c.(145-147)gCa>gTa	p.A49V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		49	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCAACTTGGCAAAAGACCTA	0.493													14	92					0	0	0	0	T	140552562	C	T	140552562	3	4	321	1	0	0	0	0	1	0	0	0	11618	710	25	4	148	4	PCDHB7	5	140552562	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	1	140552562	40362698	43	57235	467	2									
PCDHGA7	56108	broad.mit.edu	37	chr5	140764402	140764402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagcctcgtggtggccGtccaggaccacggtcagcct	7	6	14	14	3	1	1	1	0	0	1	3	2	2	2	5	4	3	1	5	4	0	0			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:140764402G>A	ENST00000518325.1	+	1	1936	c.1936G>A	c.(1936-1938)Gtc>Atc	p.V646I	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGGCCGTCCAGGACCA	0.662													8	57					0	0	0	0	A	140764402	G	A	140764402	3	1	321	1	0	0	0	0	1	0	0	0	11630	1145	40	1	1938	1	PCDHGA7	5	140764402	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	211840	140764402	40150858	44	57236											
NR3C1	2908	broad.mit.edu	37	chr5	142779482	142779482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tattaccaattatatttgctCcaggaaagcttgcctgacag	12	13	7	9	0	0	1	0	1	0	0	1	2	1	2	3	1	4	2	3	1	6	6			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:142779482C>G	ENST00000343796.2	-	2	1916	c.923G>C	c.(922-924)gGa>gCa	p.G308A	NR3C1_ENST00000503201.1_Missense_Mutation_p.G308A|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Missense_Mutation_p.G308A|NR3C1_ENST00000504572.1_Missense_Mutation_p.G308A|NR3C1_ENST00000394464.2_Missense_Mutation_p.G308A|NR3C1_ENST00000394466.2_Missense_Mutation_p.G308A|NR3C1_ENST00000424646.2_Missense_Mutation_p.G308A|NR3C1_ENST00000231509.3_Missense_Mutation_p.G308A	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	308	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TATATTTGCTCCAGGAAAGCT	0.418													14	144					0	0	0	0	G	142779482	C	G	142779482	3	3	321	1	0	0	0	0	1	0	0	0	10701	855	30	2	1497	2	NR3C1	5	142779482	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	2015080	142779482	38135778	45	57237											
ADRA1B	147	broad.mit.edu	37	chr5	159343986	159343986	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagttgaaaaatgccaactTcactggccccaaccagacct	14	7	7	13	0	1	3	1	1	0	2	1	3	1	3	5	1	3	1	5	1	4	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:159343986T>G	ENST00000306675.3	+	1	197	c.74T>G	c.(73-75)tTc>tGc	p.F25C		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	25					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	AATGCCAACTTCACTGGCCCC	0.597													5	64					0	0	0	0	G	159343986	T	G	159343986	3	3	321	1	0	0	0	0	1	0	0	0	335	1783	62	5	76	5	ADRA1B	5	159343986	Missense_Mutation	SNP	T	TCGA-CV-7433-01A-11D-2129-08	16564504	159343986	21571274	46	57238											
DSP	1832	broad.mit.edu	37	chr6	7566626	7566626	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatacgcatgagtcaacTggaagttaaagaaaaagagc	19	6	10	6	1	1	4	1	1	0	3	1	5	1	5	0	1	3	2	0	1	7	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7566626T>C	ENST00000379802.3	+	8	1297	c.956T>C	c.(955-957)cTg>cCg	p.L319P	DSP_ENST00000418664.2_Missense_Mutation_p.L319P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	319	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGAGTCAACTGGAAGTTAAA	0.378													15	59					0	0	0	0	C	7566626	T	C	7566626	3	2	321	1	0	0	0	0	1	0	0	0	4817	1580	55	5	986	5	DSP	6	7566626	Missense_Mutation	SNP	T	TCGA-CV-7433-01A-11D-2129-08		7566626	163548441	47	57239											
DSP	1832	broad.mit.edu	37	chr6	7581448	7581448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccaggaacaggaaagtgtCaaacaagctcacttgaggaa	16	6	10	9	0	2	1	2	1	0	0	3	4	3	4	1	3	3	1	1	3	5	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7581448C>T	ENST00000379802.3	+	23	5366	c.5025C>T	c.(5023-5025)gtC>gtT	p.V1675V	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1675	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGAAAGTGTCAAACAAGCTC	0.493													13	145					0	0	0	0	T	7581448	C	T	7581448	2	4	321	1	0	0	0	0	0	0	0	1	4817	813	29	2		2	DSP	6	7581448	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08	14822	7581448	163533619	48	57240											
DSP	1832	broad.mit.edu	37	chr6	7583519	7583519	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaagaagttgcttctgaaatCcagccattccttcggggtgc	9	11	11	10	1	1	2	0	1	1	1	4	3	3	2	3	2	3	2	3	2	3	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7583519C>G	ENST00000379802.3	+	24	6365	c.6024C>G	c.(6022-6024)atC>atG	p.I2008M	DSP_ENST00000418664.2_Missense_Mutation_p.I1409M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2008	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTTCTGAAATCCAGCCATTCC	0.453													14	96					0	0	0	0	G	7583519	C	G	7583519	3	3	321	1	0	0	0	0	1	0	0	0	4817	845	30	2	6118	2	DSP	6	7583519	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	2071	7583519	163531548	49	57241											
DSP	1832	broad.mit.edu	37	chr6	7585993	7585993	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccggctcccgctcgggatCtcgctccggatctcgctccg	2	9	11	19	7	2	0	0	0	2	0	9	2	6	2	4	3	0	4	4	3	0	0			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7585993C>A	ENST00000379802.3	+	24	8839	c.8498C>A	c.(8497-8499)tCt>tAt	p.S2833Y	DSP_ENST00000418664.2_Missense_Mutation_p.S2234Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2833	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		cgctcgggatctcgctccgga	0.617													10	121					2.17888e-05	2.2963e-05	1	0	A	7585993	C	A	7585993	3	1	321	1	0	0	0	0	1	0	0	0	4817	913	32	2	8592	2	DSP	6	7585993	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	2474	7585993	163529074	50	57242											
NOTCH4	4855	broad.mit.edu	37	chr6	32172089	32172089	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtttgggagtacaggtTccatggttgtgacagggttg	7	12	16	6	0	0	1	0	1	0	0	1	2	1	2	2	5	1	5	2	5	1	5			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:32172089T>A	ENST00000375023.3	-	19	3081	c.2943A>T	c.(2941-2943)ggA>ggT	p.G981G		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	981	EGF-like 25.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGTACAGGTTCCATGGTTGT	0.562													7	46					0	0	0	0	A	32172089	T	A	32172089	2	1	321	1	0	0	0	0	0	0	0	1	10621	1770	62	5		5	NOTCH4	6	32172089	Silent	SNP	T	TCGA-CV-7433-01A-11D-2129-08	24586096	32172089	138942978	51	57243											
ZBTB22	9278	broad.mit.edu	37	chr6	33284113	33284113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gattctcactggcccggctgGaggcatgggagcgcgcagag	7	6	17	11	3	1	1	1	0	1	1	2	4	1	3	1	5	1	3	1	5	0	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:33284113G>T	ENST00000431845.2	-	2	732	c.581C>A	c.(580-582)tCc>tAc	p.S194Y	ZBTB22_ENST00000418724.1_Missense_Mutation_p.S194Y	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGCCCGGCTGGAGGCATGGGA	0.622													5	47					0.000602214	0.000619823	1	0	T	33284113	G	T	33284113	3	4	321	1	0	0	0	0	1	0	0	0	17625	1174	41	2	1327	2	ZBTB22	6	33284113	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	1112024	33284113	137830954	52	57244											
PPP2R5D	5528	broad.mit.edu	37	chr6	42975736	42975736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctcaagaccattttgcatCgcatctatggcaagtttttg	9	15	7	10	1	2	1	1	0	1	1	4	1	3	1	2	1	1	4	2	1	3	5			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:42975736C>T	ENST00000485511.1	+	7	969	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.R256C|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.R158C|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.R232C	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	264					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CATTTTGCATCGCATCTATGG	0.537													14	152					0	0	0	0	T	42975736	C	T	42975736	3	4	321	1	0	0	0	0	1	0	0	0	12471	884	31	1	816	1	PPP2R5D	6	42975736	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	9691623	42975736	128139331	53	57245											
SLC35B2	347734	broad.mit.edu	37	chr6	44222466	44222466	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccttctgcacaggagactCaacaggcacagccttctttc	11	9	7	14	0	3	1	1	0	2	1	4	2	3	1	2	2	4	2	2	2	2	3	rs150122797		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:44222466C>G	ENST00000393812.3	-	4	1419	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q	SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000537814.1_Missense_Mutation_p.E293Q|SLC35B2_ENST00000538577.1_Missense_Mutation_p.E333Q	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	426					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAGGAGACTCAACAGGCACA	0.602													10	134					0	0	0	0	G	44222466	C	G	44222466	3	3	321	1	0	0	0	0	1	0	0	0	14664	835	29	2	26	2	SLC35B2	6	44222466	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	1246730	44222466	126892601	54	57246											
GPR111	222611	broad.mit.edu	37	chr6	47646751	47646751	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgtacagactactccCagtgtactcaaccttgccct	8	12	7	14	0	2	1	1	0	1	1	3	1	3	1	3	0	5	2	3	0	4	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:47646751C>T	ENST00000398742.2	+	3	197	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	GPR111_ENST00000507065.1_Nonsense_Mutation_p.Q50*|GPR111_ENST00000296862.1_Nonsense_Mutation_p.Q118*			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	118					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGACTACTCCCAGTGTACTCA	0.512													17	81					0	0	0	0	T	47646751	C	T	47646751	4	4	321	1	0	0	0	0	0	1	0	0	6677	595	21	4	158	4	GPR111	6	47646751	Nonsense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	3424285	47646751	123468316	55	57247											
COL9A1	1297	broad.mit.edu	37	chr6	70993468	70993468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctggcagctcatggcaaGtttctctcctgggccgcagg	5	10	14	12	1	2	0	1	0	1	0	4	0	3	0	2	5	1	6	2	5	1	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:70993468G>A	ENST00000357250.6	-	6	910	c.752C>T	c.(751-753)aCt>aTt	p.T251I	COL9A1_ENST00000370496.3_Missense_Mutation_p.T251I	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	251	Nonhelical region (NC4).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTCATGGCAAGTTTCTCTCCT	0.522													4	22					0	0	0	0	A	70993468	G	A	70993468	3	1	321	1	0	0	0	0	1	0	0	0	3737	1029	36	4	2221	4	COL9A1	6	70993468	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	23346717	70993468	100121599	56	57248											
PHIP	55023	broad.mit.edu	37	chr6	79665371	79665371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcattgaattataaaGtggaattatgttataacaag	15	16	6	4	0	2	1	1	1	1	0	2	2	2	2	0	1	1	1	0	1	9	8			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:79665371G>A	ENST00000275034.4	-	33	3978	c.3811C>T	c.(3811-3813)Ctt>Ttt	p.L1271F	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1271					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GAATTATAAAGTGGAATTATG	0.239													4	38					0	0	0	0	A	79665371	G	A	79665371	3	1	321	1	0	0	0	0	1	0	0	0	11914	1029	36	4	1686	4	PHIP	6	79665371	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	8671903	79665371	91449696	57	57249											
TTK	7272	broad.mit.edu	37	chr6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A																															ttcatcctccaagacttttgINSaaaaaaaaaggggaaaaaaa																										TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:80751896_80751897insA	ENST00000509894.1	+	22	3377_3378	c.2548_2549insA	c.(2548-2550)aaafs	p.K850fs	TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs			P33981	TTK_HUMAN	TTK protein kinase	851					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302													8	92	---	---	---	---					A	80751897	-	A	80751896	7	5	321	1	0	1	1	0	0	0	0	0	16816	1291	45	0	2633	0	TTK	6	80751896	Frame_Shift_Ins	INS	-	TCGA-CV-7433-01A-11D-2129-08	1086525	80751896	90363171	58	57250											
MICAL1	64780	broad.mit.edu	37	chr6	109766982	109766982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccactcacctgttccaCatctgagtccaaaggcacat	10	9	7	15	0	2	1	1	1	1	0	4	1	4	1	4	2	0	2	4	2	1	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:109766982C>T	ENST00000368952.4	-	20	3012	c.2722G>A	c.(2722-2724)Gtg>Atg	p.V908M	MICAL1_ENST00000358577.3_Missense_Mutation_p.V803M|MICAL1_ENST00000358807.3_Missense_Mutation_p.V889M			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	889					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ACCTGTTCCACATCTGAGTCC	0.522													3	12					0	0	0	0	T	109766982	C	T	109766982	3	4	321	1	0	0	0	0	1	0	0	0	9638	478	17	4	562	4	MICAL1	6	109766982	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	29015086	109766982	61348085	59	57251											
HS3ST5	222537	broad.mit.edu	37	chr6	114378702	114378702	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgtgatgaggcgatctccatCgacgacatgaaattgctcaa	12	9	10	10	4	2	3	1	3	1	0	4	6	2	3	1	1	1	1	1	1	2	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:114378702C>G	ENST00000312719.5	-	5	1948	c.760G>C	c.(760-762)Gat>Cat	p.D254H	RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.D254H|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	254					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CGATCTCCATCGACGACATGA	0.418													8	158					0	0	0	0	G	114378702	C	G	114378702	3	3	321	1	0	0	0	0	1	0	0	0	7418	884	31	3	284	3	HS3ST5	6	114378702	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	4611720	114378702	56736365	60	57252											
HS3ST5	222537	broad.mit.edu	37	chr6	114378831	114378831	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggtctatggccagcttctCaaacttgtaataagttttgt	10	15	9	7	0	2	0	1	0	2	0	3	0	2	0	1	2	2	3	1	2	4	7			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:114378831C>G	ENST00000312719.5	-	5	1819	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.E211Q|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	211					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GCCAGCTTCTCAAACTTGTAA	0.413													27	328					0	0	0	0	G	114378831	C	G	114378831	3	3	321	1	0	0	0	0	1	0	0	0	7418	835	29	2	413	2	HS3ST5	6	114378831	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	129	114378831	56736236	61	57253											
RSPH4A	345895	broad.mit.edu	37	chr6	116938343	116938343	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtttttcaggaggaagactCaaacagtgactatgatttac	13	12	9	7	1	2	3	2	2	0	1	2	5	2	5	0	2	2	1	0	2	4	5			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:116938343C>G	ENST00000229554.5	+	1	694	c.557C>G	c.(556-558)tCa>tGa	p.S186*	RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.S186*|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.S186*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	186					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGGAAGACTCAAACAGTGAC	0.512									Kartagener syndrome				20	180					0	0	0	0	G	116938343	C	G	116938343	4	3	321	1	0	0	0	0	0	1	0	0	13791	838	29	2	559	2	RSPH4A	6	116938343	Nonsense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	2559512	116938343	54176724	62	57254											
FNDC1	84624	broad.mit.edu	37	chr6	159655365	159655365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccgtgagccccgtcgcggGcacccacccctggccgcagt	5	4	12	20	5	0	1	0	1	0	0	1	1	0	1	7	2	1	2	7	2	0	0			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:159655365G>T	ENST00000297267.9	+	11	4021	c.3821G>T	c.(3820-3822)gGc>gTc	p.G1274V	FNDC1_ENST00000340366.6_Missense_Mutation_p.G1211V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1274						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCGTCGCGGGCACCCACCCC	0.706													3	21					0.115264	0.115923	1	0	T	159655365	G	T	159655365	3	4	321	1	0	0	0	0	1	0	0	0	6013	1203	42	4	3863	4	FNDC1	6	159655365	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	42717022	159655365	11459702	63	57255											
PLG	5340	broad.mit.edu	37	chr6	161139457	161139457	+	Frame_Shift_Del	DEL	C	C	-																															gtgcacagacccctcacacaCataacaggacaccagaaaac																										TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:161139457delC	ENST00000308192.9	+	8	982	c.919delC	c.(919-921)atfs	p.H307fs		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	307	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCCTCACACACATAACAGGAC	0.512													13	115	---	---	---	---					-	161139457	C	-	161139457	7	5	321	1	0	1	0	1	0	0	0	0	12158	478	17	0	953	0	PLG	6	161139457	Frame_Shift_Del	DEL	C	TCGA-CV-7433-01A-11D-2129-08	1484092	161139457	9975610	64	57256											
DNAH11	8701	broad.mit.edu	37	chr7	21723498	21723498	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaatatttgtgatgcccagTtccagtacttctatgaatac	11	16	6	8	0	1	2	0	2	1	0	2	2	2	2	2	0	3	2	2	0	6	8			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:21723498T>C	ENST00000328843.6	+	33	5609	c.5578T>C	c.(5578-5580)Ttc>Ctc	p.F1860L	DNAH11_ENST00000409508.3_Missense_Mutation_p.F1853L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1860	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGATGCCCAGTTCCAGTACTT	0.433									Kartagener syndrome				14	172					0	0	0	0	C	21723498	T	C	21723498	3	2	321	1	0	0	0	0	1	0	0	0	4636	1725	60	5	5705	5	DNAH11	7	21723498	Missense_Mutation	SNP	T	TCGA-CV-7433-01A-11D-2129-08		21723498	137415165	65	57257											
DNAH11	8701	broad.mit.edu	37	chr7	21747407	21747407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctgtgacaacagatgaaCtctttggtttcatacatcat	13	13	7	8	0	3	3	2	2	1	1	3	3	3	3	0	1	4	2	0	1	4	3			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:21747407C>G	ENST00000328843.6	+	41	6689	c.6658C>G	c.(6658-6660)Ctc>Gtc	p.L2220V	DNAH11_ENST00000409508.3_Missense_Mutation_p.L2213V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2220	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACAGATGAACTCTTTGGTTT	0.393									Kartagener syndrome				4	38					0	0	0	0	G	21747407	C	G	21747407	3	3	321	1	0	0	0	0	1	0	0	0	4636	565	20	4	6817	4	DNAH11	7	21747407	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	23909	21747407	137391256	66	57258											
FKBP14	55033	broad.mit.edu	37	chr7	30065984	30065984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcatagtggaccaacatCaaatcccctcctttggtctt	9	13	5	14	0	3	0	2	0	1	0	5	1	5	1	5	2	1	0	5	2	3	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:30065984C>G	ENST00000222803.5	-	1	316	c.141G>C	c.(139-141)ttG>ttC	p.L47F		NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	47	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						GGACCAACATCAAATCCCCTC	0.428													19	129					0	0	0	0	G	30065984	C	G	30065984	3	3	321	1	0	0	0	0	1	0	0	0	5949	825	29	2	510	2	FKBP14	7	30065984	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	8318577	30065984	129072679	67	57259											
GGCT	79017	broad.mit.edu	37	chr7	30538508	30538508	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttccttcttgagttgcaaCtttaacttctattacaacat	10	19	3	9	0	2	1	0	1	2	0	3	1	3	1	1	0	5	2	1	0	5	10			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:30538508C>G	ENST00000275428.4	-	3	468	c.334G>C	c.(334-336)Gtt>Ctt	p.V112L	GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409436.1_Missense_Mutation_p.V112L|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000598361.1_Missense_Mutation_p.V27L|GGCT_ENST00000005374.6_Intron	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	112					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						TGAGTTGCAACTTTAACTTCT	0.373													8	100					0	0	0	0	G	30538508	C	G	30538508	3	3	321	1	0	0	0	0	1	0	0	0	6406	565	20	4	240	4	GGCT	7	30538508	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	472524	30538508	128600155	68	57260											
HIP1	3092	broad.mit.edu	37	chr7	75171237	75171237	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acttacagatggagctctcaCctgagaatccatctcttggc	10	11	8	12	0	2	2	1	1	2	2	5	4	3	3	2	2	2	1	2	2	2	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:75171237C>T	ENST00000336926.6	-	29	2979		c.e29+1		HIP1_ENST00000434438.2_Splice_Site	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1						activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGAGCTCTCACCTGAGAATCC	0.443			T	PDGFRB	CMML								14	94					0	0	0	0	T	75171237	C	T	75171237	5	4	321	1	0	0	0	0	0	0	1	0	7164	521	18	4	172	4	HIP1	7	75171237	Splice_Site	SNP	C	TCGA-CV-7433-01A-11D-2129-08	44632729	75171237	83967426	69	57261											
POR	5447	broad.mit.edu	37	chr7	75612939	75612939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacctggaattggacatctCggactccaaaatcaggtacc	12	8	9	12	1	2	0	1	0	1	0	4	3	3	3	3	4	1	2	3	4	4	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:75612939C>T	ENST00000394893.1	+	9	952	c.932C>T	c.(931-933)tCg>tTg	p.S311L	POR_ENST00000439269.1_Missense_Mutation_p.S49L|POR_ENST00000419840.1_Missense_Mutation_p.S125L|POR_ENST00000461988.1_Missense_Mutation_p.S311L|POR_ENST00000545601.1_Missense_Mutation_p.S119L|POR_ENST00000450476.1_Missense_Mutation_p.S210L			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	308	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	TTGGACATCTCGGACTCCAAA	0.622													14	96					0	0	0	0	T	75612939	C	T	75612939	3	4	321	1	0	0	0	0	1	0	0	0	12329	893	31	1	962	1	POR	7	75612939	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	441702	75612939	83525724	70	57262											
IDO1	3620	broad.mit.edu	37	chr8	39782292	39782292	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcgcatatatttgtctggGtatgtagtcttatgtttgaa	8	19	9	5	1	2	1	0	1	2	0	3	1	2	1	0	1	0	4	0	1	6	8			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:39782292G>T	ENST00000518237.1	+	8	1346		c.e8+1		RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Splice_Site	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1						female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	ATTTGTCTGGGTATGTAGTCT	0.353													3	13					1	1	1	0	T	39782292	G	T	39782292	5	4	321	1	0	0	0	0	0	0	1	0	7554	1275	44	4	738	4	IDO1	8	39782292	Splice_Site	SNP	G	TCGA-CV-7433-01A-11D-2129-08		39782292	106581730	71	57263											
VPS13B	157680	broad.mit.edu	37	chr8	100493856	100493856	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatgaactaactgatatCatgaataaggtctggaacaa	16	12	7	6	0	3	3	1	3	2	0	3	4	3	4	0	2	3	0	0	2	8	5			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:100493856C>A	ENST00000395996.1	+	25	3807	c.3696C>A	c.(3694-3696)atC>atA	p.I1232I	VPS13B_ENST00000358544.2_Silent_p.I1232I|VPS13B_ENST00000357162.2_Silent_p.I1232I			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1232					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAACTGATATCATGAATAAGG	0.393													38	301					3.61848e-18	4.1354e-18	1	0	A	100493856	C	A	100493856	2	1	321	1	0	0	0	0	0	0	0	1	17286	816	29	2		2	VPS13B	8	100493856	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08	60711564	100493856	45870166	72	57264											
VPS13B	157680	broad.mit.edu	37	chr8	100796680	100796680	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccacagtcaccagtacagCtggcgctctcacaaatcccc	10	7	6	18	1	2	0	2	0	1	0	5	0	4	0	4	1	2	3	4	1	2	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:100796680C>T	ENST00000358544.2	+	43	8103	c.7992C>T	c.(7990-7992)agC>agT	p.S2664S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.S2639S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2664					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACCAGTACAGCTGGCGCTCTC	0.473													34	133					0	0	0	0	T	100796680	C	T	100796680	2	4	321	1	0	0	0	0	0	0	0	1	17286	796	28	4		4	VPS13B	8	100796680	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08	302824	100796680	45567342	73	57265											
LRP12	29967	broad.mit.edu	37	chr8	105503225	105503225	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctcaaaggactctggttCtgacttagggaacttgatcg	9	13	11	8	1	3	2	1	2	3	0	5	4	3	4	0	3	1	1	0	3	3	3			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:105503225C>T	ENST00000276654.5	-	7	2364	c.2256G>A	c.(2254-2256)caG>caA	p.Q752Q	LRP12_ENST00000424843.2_Silent_p.Q733Q|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	752					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GACTCTGGTTCTGACTTAGGG	0.443													17	107					0	0	0	0	T	105503225	C	T	105503225	2	4	321	1	0	0	0	0	0	0	0	1	9018	912	32	2		2	LRP12	8	105503225	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08	4706545	105503225	40860797	74	57266											
ADCY8	114	broad.mit.edu	37	chr8	132002670	132002670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtctccaggcgcagcCtggcctccacacacctccga	6	8	8	19	2	2	0	0	0	2	0	6	1	4	0	6	2	1	1	6	2	0	0			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:132002670C>T	ENST00000286355.5	-	2	3171	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K	ADCY8_ENST00000377928.3_Missense_Mutation_p.R360K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	360					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAGGCGCAGCCTGGCCTCCAC	0.502										HNSCC(32;0.087)			33	165					0	0	0	0	T	132002670	C	T	132002670	3	4	321	1	0	0	0	0	1	0	0	0	300	681	24	4	2744	4	ADCY8	8	132002670	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	26499445	132002670	14361352	75	57267											
LRRC8A	56262	broad.mit.edu	37	chr9	131678540	131678540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgcctgtggagctgggcGagtgcccactgctcaagcgc	5	7	15	14	2	1	0	1	0	0	0	1	2	1	1	3	2	5	2	3	2	1	0	rs146661687		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr9:131678540G>A	ENST00000259324.5	+	4	2846	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K	LRRC8A_ENST00000372600.4_Missense_Mutation_p.E775K|LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372599.3_Missense_Mutation_p.E775K	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	775					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GGAGCTGGGCGAGTGCCCACT	0.662													8	41					0	0	0	0	A	131678540	G	A	131678540	3	1	321	1	0	0	0	0	1	0	0	0	9085	1059	37	1	2329	1	LRRC8A	9	131678540	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08		131678540	9534891	76	57268											
NOTCH1	4851	broad.mit.edu	37	chr9	139412326	139412326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgtgtagccctgcagaCactggcactcgaaggagccc	8	5	13	15	2	0	1	0	0	0	1	1	3	0	2	3	3	3	3	3	3	2	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr9:139412326C>A	ENST00000277541.6	-	8	1394	c.1319G>T	c.(1318-1320)tGt>tTt	p.C440F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	440	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCCTGCAGACACTGGCACTC	0.657			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			25	53					3.28513e-13	3.65938e-13	1	0	A	139412326	C	A	139412326	3	1	321	1	0	0	0	0	1	0	0	0	10617	478	17	4	6456	4	NOTCH1	9	139412326	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	7733786	139412326	1801105	77	57269											
RET	5979	broad.mit.edu	37	chr10	43612115	43612115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatttggaaaagtggtcaaGgcaacggccttccatctgaa	13	9	11	8	1	2	1	1	1	1	0	3	3	3	2	2	4	1	1	2	4	6	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr10:43612115G>T	ENST00000355710.3	+	12	2452	c.2220G>T	c.(2218-2220)aaG>aaT	p.K740N	RET_ENST00000340058.5_Missense_Mutation_p.K740N	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	740	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AAGTGGTCAAGGCAACGGCCT	0.532		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				32	174					8.16721e-17	9.27373e-17	1	0	T	43612115	G	T	43612115	3	4	321	1	0	0	0	0	1	0	0	0	13317	991	35	4	2266	4	RET	10	43612115	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08		43612115	91922632	78	57270											
DDX21	9188	broad.mit.edu	37	chr10	70728861	70728861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtaaaaagactcagaaaaCggcaataactgtggaggtaa	18	7	11	5	1	1	2	1	0	0	2	1	3	1	3	0	4	2	3	0	4	8	3			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr10:70728861C>T	ENST00000354185.4	+	7	1318	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	407						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ACTCAGAAAACGGCAATAACT	0.328													10	79					0	0	0	0	T	70728861	C	T	70728861	3	4	321	1	0	0	0	0	1	0	0	0	4381	536	19	1	1246	1	DDX21	10	70728861	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	27116746	70728861	64805886	79	57271											
PDCD4	27250	broad.mit.edu	37	chr10	112641196	112641196	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcgacagtgggagtgaCgcccttagaagtggattaac	11	8	14	8	2	1	2	1	1	0	1	1	5	1	4	1	2	2	0	1	2	3	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr10:112641196C>T	ENST00000393104.2	+	4	576	c.216C>T	c.(214-216)gaC>gaT	p.D72D	PDCD4_ENST00000280154.7_Silent_p.D83D	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	83					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GTGGGAGTGACGCCCTTAGAA	0.502													22	88					0	0	0	0	T	112641196	C	T	112641196	2	4	321	1	0	0	0	0	0	0	0	1	11692	535	19	1		1	PDCD4	10	112641196	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08	41912335	112641196	22893551	80	57272											
CTSD	1509	broad.mit.edu	37	chr11	1775232	1775232	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccggcgctcacctcgccctGaatcagcggcacggccccga	6	4	11	20	6	2	1	2	1	0	0	3	2	2	1	5	3	1	2	5	3	1	0			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:1775232G>A	ENST00000236671.2	-	7	1096	c.964C>T	c.(964-966)Cag>Tag	p.Q322*	RP11-295K3.1_ENST00000427721.1_Silent_p.F192F	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	322					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCTCGCCCTGAATCAGCGGC	0.692													5	17					0	0	0	0	A	1775232	G	A	1775232	4	1	321	1	0	0	0	0	0	1	0	0	4064	1299	45	2	286	2	CTSD	11	1775232	Nonsense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08		1775232	133231284	81	57273											
SPON1	10418	broad.mit.edu	37	chr11	14277228	14277228	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accattccccaggagaaaatCcggcccctgaccagcctgga	11	5	9	16	1	0	2	0	1	0	1	2	4	2	3	8	3	1	0	8	3	2	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:14277228C>A	ENST00000310358.7	+	0	1663							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGGAGAAAATCCGGCCCCTGA	0.488													19	114					7.21436e-19	8.29888e-19	1	0	A	14277228	C	A	14277228	1	1	321	0	1	0	0	0	0	0	0	0	15172	845	30	2		2	SPON1	11	14277228	RNA	SNP	C	TCGA-CV-7433-01A-11D-2129-08	12501996	14277228	120729288	82	57274											
OR4X2	119764	broad.mit.edu	37	chr11	48266856	48266856	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagatctgctactcctcCgctacagcccccaaactcat	10	9	6	16	1	2	1	1	0	1	1	4	2	4	1	4	1	5	2	4	1	3	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:48266856C>T	ENST00000302329.3	+	1	249	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTACTCCTCCGCTACAGCCC	0.502													19	120					0	0	0	0	T	48266856	C	T	48266856	2	4	321	1	0	0	0	0	0	0	0	1	11156	639	23	1		1	OR4X2	11	48266856	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08	33989628	48266856	86739660	83	57275											
PLCB3	5331	broad.mit.edu	37	chr11	64032844	64032844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggtcaagctccggagcCggcaagagcgagacctgcgg	8	5	15	13	4	2	2	1	0	1	2	3	4	3	3	3	4	4	2	3	4	2	0			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:64032844C>T	ENST00000540288.1	+	25	3008	c.2905C>T	c.(2905-2907)Cgg>Tgg	p.R969W	PLCB3_ENST00000325234.5_Missense_Mutation_p.R902W|PLCB3_ENST00000279230.6_Missense_Mutation_p.R969W	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	969					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GCTCCGGAGCCGGCAAGAGCG	0.692													3	23					0	0	0	0	T	64032844	C	T	64032844	3	4	321	1	0	0	0	0	1	0	0	0	12101	643	23	1	3003	1	PLCB3	11	64032844	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	15765988	64032844	70973672	84	57276											
LTBP3	4054	broad.mit.edu	37	chr11	65314018	65314018	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgagcaggggctgccctCggcgcactcgttcacgtctg	5	7	15	14	5	2	0	1	0	1	0	4	1	2	0	1	4	2	4	1	4	0	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:65314018C>A	ENST00000301873.5	-	16	2516	c.2248G>T	c.(2248-2250)Gag>Tag	p.E750*	LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000532932.1_Nonsense_Mutation_p.E180*|LTBP3_ENST00000322147.4_Nonsense_Mutation_p.E750*|LTBP3_ENST00000536982.1_Nonsense_Mutation_p.E376*	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	750	Cys-rich.|EGF-like 6; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GGGCTGCCCTCGGCGCACTCG	0.726													4	8					3.59834e-05	3.76969e-05	1	0	A	65314018	C	A	65314018	4	1	321	1	0	0	0	0	0	1	0	0	9139	893	31	3	1715	3	LTBP3	11	65314018	Nonsense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	1281174	65314018	69692498	85	57277											
CPT1A	1374	broad.mit.edu	37	chr11	68527764	68527764	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacagctccacttgctgctGaggggtctggcttgttgata	8	12	12	9	0	1	2	0	2	1	0	2	2	2	2	1	3	4	5	1	3	2	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:68527764G>A	ENST00000265641.5	-	17	2225	c.2071C>T	c.(2071-2073)Cag>Tag	p.Q691*	CPT1A_ENST00000376618.2_Nonsense_Mutation_p.Q691*|CPT1A_ENST00000540367.1_Nonsense_Mutation_p.Q691*|CPT1A_ENST00000539743.1_Nonsense_Mutation_p.Q691*	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	691					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ACTTGCTGCTGAGGGGTCTGG	0.552													4	49					0	0	0	0	A	68527764	G	A	68527764	4	1	321	1	0	0	0	0	0	1	0	0	3861	1299	45	2	302	2	CPT1A	11	68527764	Nonsense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	3213746	68527764	66478752	86	57278											
OR10G4	390264	broad.mit.edu	37	chr11	123887153	123887153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgtgtacaccctgagaaAcaaggaggtgaagaaagctg	14	8	13	6	0	0	3	0	2	0	2	0	5	0	4	1	2	3	3	1	2	5	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:123887153A>G	ENST00000320891.4	+	1	872	c.872A>G	c.(871-873)aAc>aGc	p.N291S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACCCTGAGAAACAAGGAGGTG	0.433													16	89					0	0	0	0	G	123887153	A	G	123887153	3	3	321	1	0	0	0	0	1	0	0	0	10972	43	2	5	874	5	OR10G4	11	123887153	Missense_Mutation	SNP	A	TCGA-CV-7433-01A-11D-2129-08	55359389	123887153	11119363	87	57279											
HEPACAM	220296	broad.mit.edu	37	chr11	124794745	124794745	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcagggagccattttcAaagagtcggatacggtctcg	12	8	13	8	3	2	2	1	0	1	2	4	4	2	4	1	3	3	1	1	3	3	3			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:124794745A>G	ENST00000298251.4	-	2	711	c.306T>C	c.(304-306)ttT>ttC	p.F102F		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	102	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AGCCATTTTCAAAGAGTCGGA	0.592													28	122					0	0	0	0	G	124794745	A	G	124794745	2	3	321	1	0	0	0	0	0	0	0	1	7102	127	5	5		5	HEPACAM	11	124794745	Silent	SNP	A	TCGA-CV-7433-01A-11D-2129-08	907592	124794745	10211771	88	57280											
PEX5	5830	broad.mit.edu	37	chr12	7343015	7343015	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgaatgcgggggtgcCaacccgctcatgaagctcgc	8	5	15	13	4	1	1	1	1	0	0	2	3	1	1	3	3	4	2	3	3	3	0			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:7343015C>T	ENST00000266563.5	+	2	225	c.42C>T	c.(40-42)gcC>gcT	p.A14A	PEX5_ENST00000434354.2_Silent_p.A14A|PEX5_ENST00000455147.2_Silent_p.A14A|PEX5_ENST00000266564.3_Silent_p.A14A|PEX5_ENST00000545220.1_Intron|PEX5_ENST00000412720.2_Silent_p.A35A|PEX5_ENST00000420616.2_Silent_p.A14A	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	14					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GCGGGGGTGCCAACCCGCTCA	0.667													21	83					0	0	0	0	T	7343015	C	T	7343015	2	4	321	1	0	0	0	0	0	0	0	1	11820	581	21	4		4	PEX5	12	7343015	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08		7343015	126508880	89	57281											
OLR1	4973	broad.mit.edu	37	chr12	10319441	10319441	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccttgagttcgttttcTgactcctgtgaagcttcttc	5	19	7	10	1	2	3	0	3	2	0	6	3	4	3	2	0	1	3	2	0	1	7			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:10319441T>A	ENST00000309539.3	-	3	354	c.294A>T	c.(292-294)tcA>tcT	p.S98S	OLR1_ENST00000544577.1_Silent_p.S98S|OLR1_ENST00000432556.2_Silent_p.S98S|OLR1_ENST00000545927.1_Silent_p.S98S|OLR1_ENST00000543993.1_5'UTR	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	98	Neck.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GTTCGTTTTCTGACTCCTGTG	0.453													10	157					0	0	0	0	A	10319441	T	A	10319441	2	1	321	1	0	0	0	0	0	0	0	1	10934	1567	55	5		5	OLR1	12	10319441	Silent	SNP	T	TCGA-CV-7433-01A-11D-2129-08	2976426	10319441	123532454	90	57282											
PDZRN4	29951	broad.mit.edu	37	chr12	41966576	41966576	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagagggagtggagcatgaGctacagttgcttaatgaaga	14	8	14	5	0	0	4	0	2	0	2	0	6	0	6	0	2	4	4	0	2	4	3			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:41966576G>C	ENST00000298919.7	+	10	1603	c.1215G>C	c.(1213-1215)gaG>gaC	p.E405D	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E407D|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E665D			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	665	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGGAGCATGAGCTACAGTTGC	0.443													10	87					0	0	0	0	C	41966576	G	C	41966576	3	2	321	1	0	0	0	0	1	0	0	0	11781	962	34	4	2106	4	PDZRN4	12	41966576	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	31647135	41966576	91885319	91	57283											
MIP	4284	broad.mit.edu	37	chr12	56848316	56848316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgcagtgaggaccccaGcccaaagaagacatagaaga	16	2	11	12	1	0	5	0	1	0	4	0	6	0	6	4	1	2	1	4	1	4	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:56848316G>T	ENST00000257979.4	-	1	110	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	28					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GAGGACCCCAGCCCAAAGAAG	0.587													9	107					0.00448238	0.00458662	1	0	T	56848316	G	T	56848316	3	4	321	1	0	0	0	0	1	0	0	0	9660	962	34	4	725	4	MIP	12	56848316	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	14881740	56848316	77003579	92	57284											
INHBC	3626	broad.mit.edu	37	chr12	57828902	57828902	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaggactgcactgcagcAcctccacggggtcccacagg	8	7	12	14	1	0	1	0	1	0	0	2	2	2	2	3	4	3	3	3	4	0	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:57828902A>C	ENST00000309668.2	+	1	360	c.233A>C	c.(232-234)cAc>cCc	p.H78P	INHBC_ENST00000550133.1_Missense_Mutation_p.H78P	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	78					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GCACTGCAGCACCTCCACGGG	0.567													5	61					0	0	0	0	C	57828902	A	C	57828902	3	2	321	1	0	0	0	0	1	0	0	0	7796	159	6	5	235	5	INHBC	12	57828902	Missense_Mutation	SNP	A	TCGA-CV-7433-01A-11D-2129-08	980586	57828902	76022993	93	57285											
TBK1	29110	broad.mit.edu	37	chr12	64891448	64891448	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacaagaaactctgcctcaGaaaatgtttacagcttccag	14	11	6	10	0	2	2	1	0	1	2	3	2	3	2	2	0	5	2	2	0	6	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:64891448G>C	ENST00000331710.5	+	19	2319	c.1980G>C	c.(1978-1980)caG>caC	p.Q660H		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	660					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CTCTGCCTCAGAAAATGTTTA	0.333													16	58					0	0	0	0	C	64891448	G	C	64891448	3	2	321	1	0	0	0	0	1	0	0	0	15731	933	33	2	2050	2	TBK1	12	64891448	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	7062546	64891448	68960447	94	57286											
PWP1	11137	broad.mit.edu	37	chr12	108086644	108086644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacggtctacgggagtaatGatcaagatccttacgttact	11	13	9	8	3	2	2	1	1	1	1	3	3	3	3	1	2	4	2	1	2	6	5			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:108086644G>C	ENST00000412830.3	+	4	541	c.373G>C	c.(373-375)Gat>Cat	p.D125H	PWP1_ENST00000541166.1_Missense_Mutation_p.D63H	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	125					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						CGGGAGTAATGATCAAGATCC	0.348													11	51					0	0	0	0	C	108086644	G	C	108086644	3	2	321	1	0	0	0	0	1	0	0	0	12925	1290	45	2	387	2	PWP1	12	108086644	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	43195196	108086644	25765251	95	57287											
TRPV4	59341	broad.mit.edu	37	chr12	110232203	110232203	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacacaggtaggagaccacGttgatgtagaaggagacggc	13	5	15	8	2	0	4	0	1	0	3	0	6	0	4	1	4	0	4	1	4	3	3	rs140533102		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:110232203G>A	ENST00000418703.2	-	7	1516	c.1422C>T	c.(1420-1422)aaC>aaT	p.N474N	TRPV4_ENST00000392719.2_Silent_p.N427N|TRPV4_ENST00000261740.2_Silent_p.N474N|TRPV4_ENST00000537083.1_Silent_p.N414N|TRPV4_ENST00000544971.1_Silent_p.N367N|TRPV4_ENST00000536838.1_Silent_p.N440N|TRPV4_ENST00000541794.1_Silent_p.N427N|TRPV4_ENST00000346520.2_Silent_p.N414N	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	474					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.N474N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGGAGACCACGTTGATGTAGA	0.622													9	112					0	0	0	0	A	110232203	G	A	110232203	2	1	321	1	0	0	0	0	0	0	0	1	16693	1136	40	1		1	TRPV4	12	110232203	Silent	SNP	G	TCGA-CV-7433-01A-11D-2129-08	2145559	110232203	23619692	96	57288											
OR4K2	390431	broad.mit.edu	37	chr14	20345320	20345320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaagtaaagatagccatGaggaaactgaaaaataggtt	20	7	10	4	0	0	4	0	2	0	2	0	5	0	5	1	2	2	2	1	2	9	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:20345320G>T	ENST00000298642.2	+	1	930	c.894G>T	c.(892-894)atG>atT	p.M298I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	298					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)		AGATAGCCATGAGGAAACTGA	0.343													15	107					1.3612e-06	1.4608e-06	1	0	T	20345320	G	T	20345320	3	4	321	1	0	0	0	0	1	0	0	0	11143	1290	45	2	896	2	OR4K2	14	20345320	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08		20345320	87004220	97	57289											
OR4K13	390433	broad.mit.edu	37	chr14	20502196	20502196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacaactgtgatgtgagctGagagagtggagaaagcctta	13	9	13	6	0	1	5	1	3	0	2	1	7	1	5	1	1	3	1	1	1	3	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:20502196G>A	ENST00000315693.2	-	1	723	c.722C>T	c.(721-723)tCa>tTa	p.S241L		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GATGTGAGCTGAGAGAGTGGA	0.458													26	64					0	0	0	0	A	20502196	G	A	20502196	3	1	321	1	0	0	0	0	1	0	0	0	11139	1294	45	2	194	2	OR4K13	14	20502196	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	156876	20502196	86847344	98	57290											
IL25	64806	broad.mit.edu	37	chr14	23842343	23842350	+	Frame_Shift_Del	DEL	AGATTAGG	AGATTAGG	-																															tgcagatgagggagcgacccAgattaggtgaggacagttct																										TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:23842343_23842350delAGATTAGG	ENST00000329715.2	+	1	274_281	c.16_23delAGATTAGG	c.(16-24)tfs	p.RLG6fs	IL25_ENST00000397242.2_Intron	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	6					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		GGAGCGACCCAGATTAGGTGAGGACAGT	0.596													13	116	---	---	---	---					-	23842350	AGATTAGG	-	23842343	7	5	321	1	0	1	0	1	0	0	0	0	7731	180	7	0	31	0	IL25	14	23842343	Frame_Shift_Del	DEL	AGATTAGG	TCGA-CV-7433-01A-11D-2129-08	3340147	23842343	83507197	99	57291											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055487	72055487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctatttttcgtaaattgCgcaatgccaaaggtgaagaa	14	12	8	7	2	1	2	0	1	1	1	2	2	1	2	1	1	2	2	1	1	7	5			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:72055487C>T	ENST00000555818.1	+	2	1246	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R300C|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R300C	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	300					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.R300C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCGTAAATTGCGCAATGCCAA	0.443													8	99					0	0	0	0	T	72055487	C	T	72055487	3	4	321	1	0	0	0	0	1	0	0	0	14417	768	27	1	900	1	SIPA1L1	14	72055487	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	48213144	72055487	35294053	100	57292											
STON2	85439	broad.mit.edu	37	chr14	81744353	81744353	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgatgtttttcttctcaggGatcctcaacatcattggcca	9	15	7	10	0	4	1	3	1	2	0	6	2	5	2	2	2	1	1	2	2	1	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:81744353G>T	ENST00000555447.1	-	6	1714	c.1302C>A	c.(1300-1302)atC>atA	p.I434I	STON2_ENST00000267540.2_Silent_p.I434I	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	434	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TCTTCTCAGGGATCCTCAACA	0.537													16	238					0.000308642	0.000319535	1	0	T	81744353	G	T	81744353	2	4	321	1	0	0	0	0	0	0	0	1	15408	1164	41	2		2	STON2	14	81744353	Silent	SNP	G	TCGA-CV-7433-01A-11D-2129-08	9688866	81744353	25605187	101	57293											
PTPN21	11099	broad.mit.edu	37	chr14	88936012	88936012	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcttaaaccttccataGgtgacagtgttgtgcctgga	9	13	11	8	0	1	2	0	2	1	0	2	3	2	3	3	2	2	1	3	2	3	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:88936012G>T	ENST00000556564.1	-	17	3350	c.3066C>A	c.(3064-3066)acC>acA	p.T1022T	PTPN21_ENST00000328736.3_Silent_p.T1022T	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1022	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACCTTCCATAGGTGACAGTGT	0.517													9	55					1.76689e-08	1.93151e-08	1	0	T	88936012	G	T	88936012	2	4	321	1	0	0	0	0	0	0	0	1	12868	987	35	4		4	PTPN21	14	88936012	Silent	SNP	G	TCGA-CV-7433-01A-11D-2129-08	7191659	88936012	18413528	102	57294											
SERPINA4	5267	broad.mit.edu	37	chr14	95030432	95030432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgagctcaagaaggacGtcttgatggtgctggtgaat	10	11	14	6	1	3	4	2	3	1	1	3	5	3	5	0	3	2	2	0	3	3	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:95030432G>A	ENST00000557004.1	+	2	1034	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	SERPINA4_ENST00000298841.5_Missense_Mutation_p.V205I|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.V205I			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	205					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.V205F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CAAGAAGGACGTCTTGATGGT	0.458													15	209					0	0	0	0	A	95030432	G	A	95030432	3	1	321	1	0	0	0	0	1	0	0	0	14178	1145	40	1	615	1	SERPINA4	14	95030432	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	6094420	95030432	12319108	103	57295											
FRMD5	84978	broad.mit.edu	37	chr15	44202113	44202113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctgctaacaaggcagcatCcgatgttttacagaggagtc	12	9	11	9	1	0	1	0	0	0	1	2	3	1	2	1	2	5	5	1	2	3	3			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr15:44202113C>T	ENST00000417257.1	-	5	570	c.394G>A	c.(394-396)Gat>Aat	p.D132N	FRMD5_ENST00000402883.1_Missense_Mutation_p.D132N|FRMD5_ENST00000484674.1_Missense_Mutation_p.D43N	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	132	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		AAGGCAGCATCCGATGTTTTA	0.388											OREG0003950	type=REGULATORY REGION|Gene=FRMD5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	53					0	0	0	0	T	44202113	C	T	44202113	3	4	321	1	0	0	0	0	1	0	0	0	6101	855	30	2	1358	2	FRMD5	15	44202113	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08		44202113	58329279	104	57296											
ZNF280D	54816	broad.mit.edu	37	chr15	56961080	56961080	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tataaatgttcgatggtgttGagtcttatgatccattttct	9	19	8	5	1	2	2	0	2	2	0	4	3	3	2	1	1	0	2	1	1	4	7			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr15:56961080G>A	ENST00000559237.1	-	13	2130	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*	ZNF280D_ENST00000267807.7_Nonsense_Mutation_p.Q496*|ZNF280D_ENST00000396245.1_Nonsense_Mutation_p.Q200*|ZNF280D_ENST00000559000.1_Nonsense_Mutation_p.Q483*	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CGATGGTGTTGAGTCTTATGA	0.313													11	87					0	0	0	0	A	56961080	G	A	56961080	4	1	321	1	0	0	0	0	0	1	0	0	17912	1299	45	2	1489	2	ZNF280D	15	56961080	Nonsense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	12758967	56961080	45570312	105	57297											
TLN2	83660	broad.mit.edu	37	chr15	62939604	62939604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgtgtacgatgcgtgtcGagtcattcgggaacgggtgc	7	10	16	8	5	1	0	1	0	0	0	3	3	1	1	0	2	5	2	0	2	2	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr15:62939604G>A	ENST00000561311.1	+	3	325	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	TLN2_ENST00000306829.6_Missense_Mutation_p.R32Q			Q9Y4G6	TLN2_HUMAN	talin 2	32					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GATGCGTGTCGAGTCATTCGG	0.473													15	175					0	0	0	0	A	62939604	G	A	62939604	3	1	321	1	0	0	0	0	1	0	0	0	16042	1058	37	1	97	1	TLN2	15	62939604	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	5978524	62939604	39591788	106	57298											
CASKIN1	57524	broad.mit.edu	37	chr16	2236796	2236796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtcatggatgcagcccttCcaccggccatccggatgctg	6	10	11	14	2	1	0	1	0	0	0	3	2	3	2	5	3	3	2	5	3	0	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:2236796C>A	ENST00000343516.6	-	10	1052	c.960G>T	c.(958-960)tgG>tgT	p.W320C		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	320	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TGCAGCCCTTCCACCGGCCAT	0.662													11	52					0.010729	0.0109151	1	0	A	2236796	C	A	2236796	3	1	321	1	0	0	0	0	1	0	0	0	2691	856	30	2	3379	2	CASKIN1	16	2236796	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08		2236796	88117957	107	57299											
PRSS22	64063	broad.mit.edu	37	chr16	2903246	2903246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccccgggcctgttgcgctCggcacagccctcgccccagc	4	5	12	20	4	0	0	0	0	0	0	2	1	0	0	6	2	3	3	6	2	0	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:2903246C>T	ENST00000161006.3	-	6	867	c.802G>A	c.(802-804)Gag>Aag	p.E268K	PRSS22_ENST00000571228.1_Missense_Mutation_p.E158K	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	268	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CTGTTGCGCTCGGCACAGCCC	0.721													6	38					0	0	0	0	T	2903246	C	T	2903246	3	4	321	1	0	0	0	0	1	0	0	0	12698	893	31	1	155	1	PRSS22	16	2903246	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	666450	2903246	87451507	108	57300											
NFATC2IP	84901	broad.mit.edu	37	chr16	28967619	28967619	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgactcttcccactcaaaatCcgttgccgggctgacctggt	7	10	9	15	3	2	1	1	1	1	0	4	2	4	1	4	2	1	2	4	2	2	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:28967619C>T	ENST00000320805.4	+	5	882	c.807C>T	c.(805-807)atC>atT	p.I269I	NFATC2IP_ENST00000562977.1_Intron|NFATC2IP_ENST00000564978.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	269						cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						CACTCAAAATCCGTTGCCGGG	0.607													4	48					0	0	0	0	T	28967619	C	T	28967619	2	4	321	1	0	0	0	0	0	0	0	1	10433	845	30	2		2	NFATC2IP	16	28967619	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08	26064373	28967619	61387134	109	57301											
KCTD13	253980	broad.mit.edu	37	chr16	29937220	29937220	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaacgagccgcccacgttCagcttcacgtatttgctgtt	7	12	9	13	4	2	0	2	0	0	0	2	1	2	0	2	0	5	6	2	0	2	5			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:29937220C>T	ENST00000568000.1	-	1	1136	c.135G>A	c.(133-135)ctG>ctA	p.L45L	KCTD13_ENST00000561540.1_Silent_p.L45L|KCTD13_ENST00000568721.1_5'UTR	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	45	BTB.				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CGCCCACGTTCAGCTTCACGT	0.672													7	54					0	0	0	0	T	29937220	C	T	29937220	2	4	321	1	0	0	0	0	0	0	0	1	8153	813	29	2		2	KCTD13	16	29937220	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08	969601	29937220	60417533	110	57302											
ACD	65057	broad.mit.edu	37	chr16	67691743	67691743	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagaaccatcacgatgcCtctttgggggttcctgaaag	10	9	12	10	1	2	2	1	1	1	1	3	3	3	2	3	3	2	2	3	3	2	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:67691743C>A	ENST00000219251.8	-	11	1800	c.1469G>T	c.(1468-1470)aGg>aTg	p.R490M	ACD_ENST00000393919.4_Missense_Mutation_p.R493M	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	493					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ATCACGATGCCTCTTTGGGGG	0.587													27	68					1.75199e-13	1.96401e-13	1	0	A	67691743	C	A	67691743	3	1	321	1	0	0	0	0	1	0	0	0	135	681	24	4	164	4	ACD	16	67691743	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	37754523	67691743	22663010	111	57303											
AP1G1	164	broad.mit.edu	37	chr16	71783838	71783838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactggccagatacaagaaGatcaccatattcacctatac	16	8	5	12	0	2	3	2	0	0	3	2	3	2	3	3	1	2	0	3	1	6	5			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:71783838G>A	ENST00000299980.4	-	15	1897	c.1456C>T	c.(1456-1458)Ctt>Ttt	p.L486F	AP1G1_ENST00000423132.2_Missense_Mutation_p.L489F|AP1G1_ENST00000393512.3_Missense_Mutation_p.L489F|AP1G1_ENST00000569748.1_Missense_Mutation_p.L486F|AP1G1_ENST00000433195.2_Missense_Mutation_p.L509F	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	486					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GATACAAGAAGATCACCATAT	0.408													38	269					0	0	0	0	A	71783838	G	A	71783838	3	1	321	1	0	0	0	0	1	0	0	0	733	942	33	2	1048	2	AP1G1	16	71783838	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	4092095	71783838	18570915	112	57304											
DEF8	54849	broad.mit.edu	37	chr16	90030604	90030604	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatcggcagcattttgtggaGaacgacgagatgtactctgt	10	11	13	7	3	1	2	0	0	1	2	2	6	1	2	0	2	3	3	0	2	2	3			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:90030604G>C	ENST00000563594.1	+	11	2026	c.1029G>C	c.(1027-1029)gaG>gaC	p.E343D	DEF8_ENST00000563795.1_Intron|DEF8_ENST00000569453.1_Missense_Mutation_p.E343D|DEF8_ENST00000570182.1_Missense_Mutation_p.E333D|DEF8_ENST00000567874.1_Missense_Mutation_p.E283D|DEF8_ENST00000268676.7_Missense_Mutation_p.E404D	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	404					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		ATTTTGTGGAGAACGACGAGA	0.657													5	52					0	0	0	0	C	90030604	G	C	90030604	3	2	321	1	0	0	0	0	1	0	0	0	4419	933	33	2	1330	2	DEF8	16	90030604	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	18246766	90030604	324149	113	57305											
TP53	7157	broad.mit.edu	37	chr17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtgcgccggtctctcccagGacaggcacaaacacgcacct	9	6	10	16	3	1	0	0	0	1	0	3	1	2	1	3	3	2	2	3	3	1	0	rs17849781		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:7577106G>A	ENST00000420246.2	-	8	964	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCTCCCAGGACAGGCACAA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	31					0	0	0	0	A	7577106	G	A	7577106	3	1	321	1	0	0	0	0	1	0	0	0	16476	1174	41	2	454	2	TP53	17	7577106	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08		7577106	73618104	114	57306											
PIK3R5	23533	broad.mit.edu	37	chr17	8790999	8790999	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgattgttctccagccGcctggcaagaagaagatggt	9	9	14	9	2	1	3	0	0	1	3	2	4	1	3	3	3	1	2	3	3	3	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:8790999G>A	ENST00000447110.1	-	11	1742	c.1616_splice	c.e11-1	p.R540_splice	PIK3R5_ENST00000584803.1_Splice_Site_p.R540_splice|PIK3R5_ENST00000581552.1_Splice_Site_p.R540_splice	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	540					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTCTCCAGCCGCCTGGCAAGA	0.582													3	10					0	0	0	0	A	8790999	G	A	8790999	5	1	321	1	0	0	0	0	0	0	1	0	11994	1101	38	1	1060	1	PIK3R5	17	8790999	Splice_Site	SNP	G	TCGA-CV-7433-01A-11D-2129-08	1213893	8790999	72404211	115	57307											
MYO15A	51168	broad.mit.edu	37	chr17	18066632	18066632	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctcaaaatcaaaacatgCactgtaagtgaagaaatgtc	18	9	6	8	0	2	2	2	1	1	1	4	2	2	2	0	0	2	2	0	0	7	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:18066632C>T	ENST00000205890.5	+	59	10025	c.9687C>T	c.(9685-9687)tgC>tgT	p.C3229C	MYO15A_ENST00000418233.3_Silent_p.C493C|MYO15A_ENST00000451725.2_Silent_p.C121C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3229	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCAAAACATGCACTGTAAGTG	0.552													9	88					0	0	0	0	T	18066632	C	T	18066632	2	4	321	1	0	0	0	0	0	0	0	1	10133	718	25	4		4	MYO15A	17	18066632	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08	9275633	18066632	63128578	116	57308											
SSH2	85464	broad.mit.edu	37	chr17	27999102	27999102	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctgggtagtagttatgCgctctggcgacttcacaagc	7	11	12	11	2	2	0	1	0	1	0	2	1	2	0	1	2	3	4	1	2	4	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:27999102C>T	ENST00000269033.3	-	8	730	c.579G>A	c.(577-579)gcG>gcA	p.A193A	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.A220A	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	193					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTAGTTATGCGCTCTGGCGA	0.473													16	75					0	0	0	0	T	27999102	C	T	27999102	2	4	321	1	0	0	0	0	0	0	0	1	15275	755	27	1		1	SSH2	17	27999102	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08	9932470	27999102	53196108	117	57309											
ATAD5	79915	broad.mit.edu	37	chr17	29220393	29220393	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcggaatgtagattttttaTatagtaatcttgagtttatt	11	20	8	2	1	1	2	0	1	1	1	1	3	1	3	0	1	1	3	0	1	7	11			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:29220393T>C	ENST00000321990.4	+	21	4900	c.4522T>C	c.(4522-4524)Tat>Cat	p.Y1508H		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1508					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGATTTTTTATATAGTAATCT	0.353													32	135					0	0	0	0	C	29220393	T	C	29220393	3	2	321	1	0	0	0	0	1	0	0	0	1080	1406	49	5	4604	5	ATAD5	17	29220393	Missense_Mutation	SNP	T	TCGA-CV-7433-01A-11D-2129-08	1221291	29220393	51974817	118	57310											
TADA2A	6871	broad.mit.edu	37	chr17	35802715	35802715	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccttgctttctcgggacAtggccgggtacatgccagct	6	11	11	13	2	1	0	0	0	1	0	3	1	2	1	3	3	4	3	3	3	1	3			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:35802715A>G	ENST00000394395.2	+	7	666	c.493A>G	c.(493-495)Atg>Gtg	p.M165V	TADA2A_ENST00000586023.1_Missense_Mutation_p.M165V|TADA2A_ENST00000417170.1_Missense_Mutation_p.M165V|TADA2A_ENST00000225396.6_Missense_Mutation_p.M165V|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	165					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TTCTCGGGACATGGCCGGGTA	0.418													4	53					0	0	0	0	G	35802715	A	G	35802715	3	3	321	1	0	0	0	0	1	0	0	0	15601	217	8	5	515	5	TADA2A	17	35802715	Missense_Mutation	SNP	A	TCGA-CV-7433-01A-11D-2129-08	6582322	35802715	45392495	119	57311											
GPR142	350383	broad.mit.edu	37	chr17	72368688	72368688	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacagccagagggcatggcGgcgaagcctgtgatggagcc	9	5	16	11	2	1	2	1	1	0	1	1	4	1	3	3	4	3	1	3	4	1	0			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:72368688G>A	ENST00000335666.4	+	4	1386	c.1338G>A	c.(1336-1338)gcG>gcA	p.A446A		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	446						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AGGGCATGGCGGCGAAGCCTG	0.617													4	41					0	0	0	0	A	72368688	G	A	72368688	2	1	321	1	0	0	0	0	0	0	0	1	6699	1103	39	1		1	GPR142	17	72368688	Silent	SNP	G	TCGA-CV-7433-01A-11D-2129-08	36565973	72368688	8826522	120	57312											
MFSD11	79157	broad.mit.edu	37	chr17	74734467	74734467	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctaaaaagcttttcaacatCattattttaggagttgcctt	12	17	5	7	0	3	0	2	0	1	0	3	1	3	1	1	1	3	2	1	1	6	8			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:74734467C>T	ENST00000588460.1	+	1	2075	c.33C>T	c.(31-33)atC>atT	p.I11I	MFSD11_ENST00000590514.1_Silent_p.I11I|MFSD11_ENST00000590393.1_Silent_p.I11I|MFSD11_ENST00000336509.4_Silent_p.I11I|MFSD11_ENST00000593181.1_Silent_p.I11I|MFSD11_ENST00000591864.1_Silent_p.I11I|RP11-318A15.7_ENST00000587459.1_3'UTR|MFSD11_ENST00000586622.1_Silent_p.I11I|MFSD11_ENST00000355954.3_Silent_p.I11I	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	11						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TTTTCAACATCATTATTTTAG	0.502													8	44					0	0	0	0	T	74734467	C	T	74734467	2	4	321	1	0	0	0	0	0	0	0	1	9598	816	29	2		2	MFSD11	17	74734467	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08	2365779	74734467	6460743	121	57313											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941241	13941241	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgcgagaagaaccacTcggccttcgaggcggcctac	8	6	12	15	4	0	2	0	0	0	2	2	4	0	2	4	3	3	0	4	3	3	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:13941241T>G	ENST00000254323.2	+	13	2536	c.2347T>G	c.(2347-2349)Tcg>Gcg	p.S783A	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.S617A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	783							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GAAGAACCACTCGGCCTTCGA	0.697													14	144					0	0	0	0	G	13941241	T	G	13941241	3	3	321	1	0	0	0	0	1	0	0	0	18334	1551	54	5	2397	5	ZSWIM4	19	13941241	Missense_Mutation	SNP	T	TCGA-CV-7433-01A-11D-2129-08		13941241	45187742	122	57314											
UBA52	7311	broad.mit.edu	37	chr19	18684147	18684147	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctcactggcaaaaccAtcacccttgaggtcgagccc	11	6	8	16	1	2	2	2	1	0	1	3	3	2	2	4	2	2	1	4	2	2	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:18684147A>G	ENST00000442744.2	+	2	95	c.37A>G	c.(37-39)Atc>Gtc	p.I13V	UBA52_ENST00000599551.1_Missense_Mutation_p.I13V|UBA52_ENST00000595683.1_Missense_Mutation_p.I13V|UBA52_ENST00000597451.1_Missense_Mutation_p.I13V|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000596273.1_Missense_Mutation_p.I13V|UBA52_ENST00000595158.1_Missense_Mutation_p.I13V|UBA52_ENST00000599595.1_Missense_Mutation_p.I13V|UBA52_ENST00000598780.1_Missense_Mutation_p.I13V|UBA52_ENST00000430157.2_Missense_Mutation_p.I13V|UBA52_ENST00000596304.1_Missense_Mutation_p.I13V	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	13	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						TGGCAAAACCATCACCCTTGA	0.537													7	47					0	0	0	0	G	18684147	A	G	18684147	3	3	321	1	0	0	0	0	1	0	0	0	16927	217	8	5	39	5	UBA52	19	18684147	Missense_Mutation	SNP	A	TCGA-CV-7433-01A-11D-2129-08	4742906	18684147	40444836	123	57315											
CCNE1	898	broad.mit.edu	37	chr19	30312987	30312987	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatctaaatgacttacatGaagtgctactgccgcagtat	13	12	7	9	1	1	2	0	2	1	0	1	2	1	2	1	0	4	3	1	0	7	5			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:30312987G>T	ENST00000262643.3	+	9	1069	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	CCNE1_ENST00000357943.5_Nonsense_Mutation_p.E221*|CCNE1_ENST00000444983.2_Nonsense_Mutation_p.E249*	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	264					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TGACTTACATGAAGTGCTACT	0.488			A		serous ovarian								8	142					5.18039e-06	5.49246e-06	1	0	T	30312987	G	T	30312987	4	4	321	1	0	0	0	0	0	1	0	0	2949	1291	45	2	820	2	CCNE1	19	30312987	Nonsense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	11628840	30312987	28815996	124	57316											
CCDC8	83987	broad.mit.edu	37	chr19	46914545	46914545	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctcctgccctggggactCtcttgggcagggttggcaac	4	10	13	14	0	2	0	0	0	2	0	4	1	2	1	3	5	2	3	3	5	1	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:46914545C>G	ENST00000307522.3	-	1	2296	c.1523G>C	c.(1522-1524)aGa>aCa	p.R508T		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	508						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CCTGGGGACTCTCTTGGGCAG	0.622													9	76					0	0	0	0	G	46914545	C	G	46914545	3	3	321	1	0	0	0	0	1	0	0	0	2880	913	32	2	97	2	CCDC8	19	46914545	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	16601558	46914545	12214438	125	57317											
CCDC8	83987	broad.mit.edu	37	chr19	46915167	46915167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctcttccctttgactatCtgcagcctctcccccctgat	4	13	6	18	0	3	2	0	2	3	0	5	2	4	2	6	1	2	1	6	1	1	3			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:46915167C>T	ENST00000307522.3	-	1	1674	c.901G>A	c.(901-903)Gat>Aat	p.D301N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	301						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTTGACTATCTGCAGCCTCT	0.627													12	186					0	0	0	0	T	46915167	C	T	46915167	3	4	321	1	0	0	0	0	1	0	0	0	2880	913	32	2	719	2	CCDC8	19	46915167	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	622	46915167	12213816	126	57318											
SOX12	6666	broad.mit.edu	37	chr20	307440	307440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcgagttcccggactactGcacccccgaggttaccgaga	8	8	10	15	4	0	1	0	0	0	1	2	5	1	2	4	2	3	3	4	2	2	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:307440G>A	ENST00000342665.2	+	1	1202	c.872G>A	c.(871-873)tGc>tAc	p.C291Y	SOX12_ENST00000544632.1_Missense_Mutation_p.C291Y|RP5-1103G7.4_ENST00000442637.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	291					cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCGGACTACTGCACCCCCGAG	0.701													12	37					0	0	0	0	A	307440	G	A	307440	3	1	321	1	0	0	0	0	1	0	0	0	15031	1319	46	4	874	4	SOX12	20	307440	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08		307440	62718080	127	57319											
SIRPB1	10326	broad.mit.edu	37	chr20	1558986	1558986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccacgctgtactcaccgCgcacagacagctcagtgcct	8	6	10	17	3	2	1	2	0	0	1	2	1	2	1	3	1	3	4	3	1	1	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:1558986C>T	ENST00000381605.4	-	2	495	c.431G>A	c.(430-432)cGc>cAc	p.R144H	SIRPB1_ENST00000262929.5_Missense_Mutation_p.R143H|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R144H|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R144H	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	144					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GTACTCACCGCGCACAGACAG	0.552													24	131					0	0	0	0	T	1558986	C	T	1558986	3	4	321	1	0	0	0	0	1	0	0	0	14421	768	27	1	781	1	SIRPB1	20	1558986	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	1251546	1558986	61466534	128	57320											
JAG1	182	broad.mit.edu	37	chr20	10622312	10622312	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactcgctgtgccctttgtgGagcaggcaaggtcgagggcc	6	8	15	12	2	0	0	0	0	0	0	2	2	0	1	2	4	2	3	2	4	1	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:10622312G>A	ENST00000254958.5	-	23	3227	c.2712C>T	c.(2710-2712)ctC>ctT	p.L904L	JAG1_ENST00000423891.2_Silent_p.L745L	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	904					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCCCTTTGTGGAGCAGGCAAG	0.612									Alagille Syndrome				15	66					0	0	0	0	A	10622312	G	A	10622312	2	1	321	1	0	0	0	0	0	0	0	1	7987	1161	41	2		2	JAG1	20	10622312	Silent	SNP	G	TCGA-CV-7433-01A-11D-2129-08	9063326	10622312	52403208	129	57321											
ASXL1	171023	broad.mit.edu	37	chr20	31023178	31023178	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaagaaaacttgaaaaccaAggctctcgtttctaacagtt	16	10	6	9	1	2	2	0	1	2	1	3	2	2	2	1	1	3	3	1	1	7	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:31023178A>G	ENST00000375687.4	+	13	3087	c.2663A>G	c.(2662-2664)aAg>aGg	p.K888R	ASXL1_ENST00000306058.5_Missense_Mutation_p.K883R	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	888					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TTGAAAACCAAGGCTCTCGTT	0.448			"F, N, Mis"		"MDS, CMML"								34	162					0	0	0	0	G	31023178	A	G	31023178	3	3	321	1	0	0	0	0	1	0	0	0	1070	72	3	5	2719	5	ASXL1	20	31023178	Missense_Mutation	SNP	A	TCGA-CV-7433-01A-11D-2129-08	20400866	31023178	32002342	130	57322											
NTSR1	4923	broad.mit.edu	37	chr20	61391421	61391421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtgaccaacgcactcttCtacgtcagctccaccatcaa	11	9	6	15	2	4	1	2	1	2	0	5	1	5	1	3	1	3	2	3	1	3	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:61391421C>G	ENST00000370501.3	+	4	1430	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	353						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ACGCACTCTTCTACGTCAGCT	0.577													15	232					0	0	0	0	G	61391421	C	G	61391421	3	3	321	1	0	0	0	0	1	0	0	0	10781	912	32	2	1073	2	NTSR1	20	61391421	Missense_Mutation	SNP	C	TCGA-CV-7433-01A-11D-2129-08	30368243	61391421	1634099	131	57323											
BAGE2	85319	broad.mit.edu	37	chr21	11049306	11049307	+	RNA	INS	-	-	T																															taaacgttaatatccagtaaINStttttttaagtatgatgaag																								rs57143135		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr21:11049306_11049307insT	ENST00000470054.1	-	0	659									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATATCCAGTAATTTTTTTAAGT	0.272													7	69	---	---	---	---					T	11049307	-	T	11049306	6	5	321	0	1	1	1	0	0	0	0	0	1296	116	4	0		0	BAGE2	21	11049306	RNA	INS	-	TCGA-CV-7433-01A-11D-2129-08		11049306	37080589	132	57324											
CECR2	27443	broad.mit.edu	37	chr22	18022154	18022154	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgagtacactctgccgtctgGaatgggaaccatggtgctac	9	9	12	11	2	2	0	0	0	2	0	2	3	2	2	2	3	5	2	2	3	4	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:18022154G>A	ENST00000262608.8	+	15	2259	c.2259G>A	c.(2257-2259)tgG>tgA	p.W753*	CECR2_ENST00000400573.4_Nonsense_Mutation_p.W752*|CECR2_ENST00000400585.2_Nonsense_Mutation_p.W611*	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	794					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTGCCGTCTGGAATGGGAACC	0.577													12	50					0	0	0	0	A	18022154	G	A	18022154	4	1	321	1	0	0	0	0	0	1	0	0	3235	1183	41	2	2316	2	CECR2	22	18022154	Nonsense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08		18022154	33282412	133	57325											
SLC2A11	66035	broad.mit.edu	37	chr22	24219248	24219248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgagcatgaacatccaGcccatgtacctgggggagag	10	7	15	9	0	0	3	0	2	0	1	1	4	1	3	3	3	4	2	3	3	2	1			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:24219248G>A	ENST00000345044.6	+	5	694	c.426G>A	c.(424-426)caG>caA	p.Q142Q	SLC2A11_ENST00000316185.8_Silent_p.Q145Q|AP000350.10_ENST00000433835.3_Silent_p.Q107Q|SLC2A11_ENST00000405847.1_Silent_p.Q142Q|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000398356.2_Silent_p.Q149Q			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	142						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						TGAACATCCAGCCCATGTACC	0.642													12	76					0	0	0	0	A	24219248	G	A	24219248	2	1	321	1	0	0	0	0	0	0	0	1	14628	962	34	4		4	SLC2A11	22	24219248	Silent	SNP	G	TCGA-CV-7433-01A-11D-2129-08	6197094	24219248	27085318	134	57326											
EMID1	129080	broad.mit.edu	37	chr22	29627077	29627077	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccctgaggaccctgccccGctctggggtccccctcctgc	3	7	10	21	1	1	1	0	1	1	0	3	2	3	2	8	3	2	1	8	3	0	0			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:29627077G>T	ENST00000334018.6	+	6	722	c.534G>T	c.(532-534)ccG>ccT	p.P178P	EMID1_ENST00000404755.3_Silent_p.P178P|EMID1_ENST00000404820.3_Silent_p.P178P|EMID1_ENST00000484039.1_3'UTR	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	176						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						ACCCTGCCCCGCTCTGGGGTC	0.637													9	85					1.58986e-06	1.69585e-06	1	0	T	29627077	G	T	29627077	2	4	321	1	0	0	0	0	0	0	0	1	5129	1074	38	3		3	EMID1	22	29627077	Silent	SNP	G	TCGA-CV-7433-01A-11D-2129-08	5407829	29627077	21677489	135	57327											
THOC5	8563	broad.mit.edu	37	chr22	29913096	29913096	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccacaatgtctttggtgaAgtgcagctcctagaagaggt	11	11	11	8	0	1	3	0	1	1	2	3	3	3	3	2	2	2	2	2	2	4	2			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:29913096A>G	ENST00000490103.1	-	17	1725	c.1603T>C	c.(1603-1605)Ttc>Ctc	p.F535L	THOC5_ENST00000397873.2_Missense_Mutation_p.F535L|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.F535L|THOC5_ENST00000397872.1_Missense_Mutation_p.F535L	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	535					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTTTGGTGAAGTGCAGCTCC	0.537													10	78					0	0	0	0	G	29913096	A	G	29913096	3	3	321	1	0	0	0	0	1	0	0	0	15962	72	3	5	464	5	THOC5	22	29913096	Missense_Mutation	SNP	A	TCGA-CV-7433-01A-11D-2129-08	286019	29913096	21391470	136	57328											
HMGXB4	10042	broad.mit.edu	37	chr22	35660938	35660938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacactgacccttcgggAgcctgatggtttaaaaatga	13	9	11	8	1	0	4	0	3	0	1	1	6	0	5	2	2	1	1	2	2	3	3			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:35660938A>G	ENST00000216106.5	+	5	685	c.557A>G	c.(556-558)gAg>gGg	p.E186G	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E77G	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	186					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCCTTCGGGAGCCTGATGGT	0.463													36	174					0	0	0	0	G	35660938	A	G	35660938	3	3	321	1	0	0	0	0	1	0	0	0	7289	304	11	5	571	5	HMGXB4	22	35660938	Missense_Mutation	SNP	A	TCGA-CV-7433-01A-11D-2129-08	5747842	35660938	15643628	137	57329											
KCNJ4	3761	broad.mit.edu	37	chr22	38824021	38824021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtccgccatgtagcgctgCgacttgttgctcaggttggc	5	12	13	11	3	1	0	1	0	0	0	2	1	2	0	2	2	3	5	2	2	1	4			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:38824021C>T	ENST00000303592.3	-	2	375	c.117G>A	c.(115-117)tcG>tcA	p.S39S		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	39					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGTAGCGCTGCGACTTGTTGC	0.612													55	282					0	0	0	0	T	38824021	C	T	38824021	2	4	321	1	0	0	0	0	0	0	0	1	8106	755	27	1		1	KCNJ4	22	38824021	Silent	SNP	C	TCGA-CV-7433-01A-11D-2129-08	3163083	38824021	12480545	138	57330											
MXRA5	25878	broad.mit.edu	37	chrX	3239737	3239737	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttgtcaacatttgtggcaAcatcatccttaatttctttt	9	19	5	8	0	3	0	2	0	1	0	4	0	4	0	1	1	2	2	1	1	3	6			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chrX:3239737A>G	ENST00000217939.6	-	5	4143	c.3989T>C	c.(3988-3990)gTt>gCt	p.V1330A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1330						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATTTGTGGCAACATCATCCTT	0.378													14	67					0	0	0	0	G	3239737	A	G	3239737	3	3	321	1	0	0	0	0	1	0	0	0	10073	43	2	5	4509	5	MXRA5	23	3239737	Missense_Mutation	SNP	A	TCGA-CV-7433-01A-11D-2129-08		3239737	152030823	139	57331											
USP9X	8239	broad.mit.edu	37	chrX	40990715	40990715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaaaacttttaggcctcGatgggtggttccagttttgc	7	15	12	7	1	0	0	0	0	0	0	2	1	1	0	2	4	2	3	2	4	3	6			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chrX:40990715G>T	ENST00000324545.7	+	4	881	c.248G>T	c.(247-249)cGa>cTa	p.R83L	USP9X_ENST00000378308.2_Missense_Mutation_p.R83L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	83					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTAGGCCTCGATGGGTGGTT	0.343													23	43					1.64293e-13	1.85357e-13	1	0	T	40990715	G	T	40990715	3	4	321	1	0	0	0	0	1	0	0	0	17186	1058	37	3	258	3	USP9X	23	40990715	Missense_Mutation	SNP	G	TCGA-CV-7433-01A-11D-2129-08	37750978	40990715	114279845	140	57332											
SPEN	23013	broad.mit.edu	37	chr1	16254617	16254617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcctacgactataacCaagatcgtacatattatgag	14	10	8	9	2	0	2	0	1	0	1	2	3	1	2	2	1	3	2	2	1	7	6			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:16254617C>G	ENST00000375759.3	+	11	2086	c.1882C>G	c.(1882-1884)Caa>Gaa	p.Q628E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	628	Arg-rich.|Tyr-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGACTATAACCAAGATCGTAC	0.403													32	56					0	0	0	0	G	16254617	C	G	16254617	3	3	322	1	0	0	0	0	1	0	0	0	15128	595	21	4	1924	4	SPEN	1	16254617	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08		16254617	232996004	1	57333											
COL11A1	1301	broad.mit.edu	37	chr1	103471421	103471421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgtcacctggcagaccCggaagtccatcaaaccctcg	9	8	8	16	2	2	1	2	0	0	1	4	2	3	2	5	2	1	1	5	2	2	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:103471421C>T	ENST00000358392.2	-	18	2171	c.1854G>A	c.(1852-1854)ccG>ccA	p.P618P	COL11A1_ENST00000512756.1_Silent_p.P490P|COL11A1_ENST00000370096.3_Silent_p.P606P|COL11A1_ENST00000353414.4_Silent_p.P567P|COL11A1_ENST00000461720.1_5'UTR	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	606	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.P606P(2)|p.P618P(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGCAGACCCGGAAGTCCAT	0.358													28	54					0	0	0	0	T	103471421	C	T	103471421	2	4	322	1	0	0	0	0	0	0	0	1	3697	639	23	1		1	COL11A1	1	103471421	Silent	SNP	C	TCGA-CV-7434-01A-11D-2129-08	87216804	103471421	145779200	2	57334											
KCNA10	3744	broad.mit.edu	37	chr1	111060811	111060811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaggagccagaactgaCggtggatgtcattggtgggt	11	8	16	6	1	1	3	1	1	0	2	1	5	1	5	1	5	2	0	1	5	2	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:111060811C>T	ENST00000369771.2	-	1	986	c.599G>A	c.(598-600)cGt>cAt	p.R200H		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	200			R -> H (in a colorectal cancer sample; somatic mutation).			voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.R200H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CCAGAACTGACGGTGGATGTC	0.547													27	45					0	0	0	0	T	111060811	C	T	111060811	3	4	322	1	0	0	0	0	1	0	0	0	8055	536	19	1	940	1	KCNA10	1	111060811	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	7589390	111060811	138189810	3	57335											
KCNA2	3737	broad.mit.edu	37	chr1	111147063	111147063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttctcccagctcataaaaCcgaatttcttcagagaatat	13	13	4	11	1	5	1	2	0	3	1	6	3	5	1	2	0	2	1	2	0	5	5			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:111147063C>T	ENST00000485317.1	-	3	1015	c.342G>A	c.(340-342)cgG>cgA	p.R114R	KCNA2_ENST00000369770.3_Silent_p.R114R|KCNA2_ENST00000440270.1_Silent_p.R114R|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Silent_p.R114R			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	114						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GCTCATAAAACCGAATTTCTT	0.478													14	34					0	0	0	0	T	111147063	C	T	111147063	2	4	322	1	0	0	0	0	0	0	0	1	8056	494	18	4		4	KCNA2	1	111147063	Silent	SNP	C	TCGA-CV-7434-01A-11D-2129-08	86252	111147063	138103558	4	57336											
RSBN1	54665	broad.mit.edu	37	chr1	114310877	114310877	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtacagctttcaaaactccaAcagcagccgtactctgccag	12	8	7	14	1	2	0	1	0	1	0	3	0	3	0	3	0	8	4	3	0	5	3			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:114310877A>G	ENST00000261441.5	-	5	1856	c.1793T>C	c.(1792-1794)gTt>gCt	p.V598A		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	598						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAACTCCAACAGCAGCCGT	0.438													16	35					0	0	0	0	G	114310877	A	G	114310877	3	3	322	1	0	0	0	0	1	0	0	0	13781	43	2	5	627	5	RSBN1	1	114310877	Missense_Mutation	SNP	A	TCGA-CV-7434-01A-11D-2129-08	3163814	114310877	134939744	5	57337											
HIPK1	204851	broad.mit.edu	37	chr1	114506106	114506106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactctgagctgcgcagccgGccggccggcgctggttgaac	5	7	15	14	5	1	2	0	2	1	0	1	2	1	2	3	4	5	4	3	4	2	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:114506106G>T	ENST00000369558.1	+	10	2433	c.2201G>T	c.(2200-2202)gGc>gTc	p.G734V	HIPK1_ENST00000369553.1_Missense_Mutation_p.G340V|HIPK1_ENST00000369561.4_Missense_Mutation_p.G700V|HIPK1_ENST00000426820.2_Missense_Mutation_p.G734V|HIPK1_ENST00000406344.1_Missense_Mutation_p.G340V|HIPK1_ENST00000340480.4_Missense_Mutation_p.G360V|HIPK1_ENST00000369554.2_Intron|HIPK1_ENST00000369555.2_Intron|HIPK1_ENST00000369559.4_Missense_Mutation_p.G734V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCGCAGCCGGCCGGCCGGCG	0.517													22	42					1.10513e-12	1.37395e-12	1	0	T	114506106	G	T	114506106	3	4	322	1	0	0	0	0	1	0	0	0	7166	1203	42	4	2253	4	HIPK1	1	114506106	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	195229	114506106	134744515	6	57338											
ANKRD35	148741	broad.mit.edu	37	chr1	145562297	145562297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtgcccaagccagaggCgcaggtccagctacagcagt	9	7	13	12	1	0	1	0	0	0	1	1	1	1	1	3	2	5	4	3	2	2	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:145562297C>T	ENST00000355594.4	+	10	2072	c.1985C>T	c.(1984-1986)gCg>gTg	p.A662V		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	662										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGCCAGAGGCGCAGGTCCAG	0.632													19	41					0	0	0	0	T	145562297	C	T	145562297	3	4	322	1	0	0	0	0	1	0	0	0	663	768	27	1	2023	1	ANKRD35	1	145562297	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	31056191	145562297	103688324	7	57339											
FLG	2312	broad.mit.edu	37	chr1	152285838	152285838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctgaccctcttgggaCgctgaatgcctggagctgtc	5	11	13	12	1	1	2	0	2	1	0	3	4	2	4	3	2	2	2	3	2	1	1	rs148161383	byFrequency	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:152285838C>T	ENST00000368799.1	-	3	1559	c.1524G>A	c.(1522-1524)gcG>gcA	p.A508A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	508	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTTGGGACGCTGAATGCC	0.597									Ichthyosis				143	278					0	0	0	0	T	152285838	C	T	152285838	2	4	322	1	0	0	0	0	0	0	0	1	5967	523	19	1		1	FLG	1	152285838	Silent	SNP	C	TCGA-CV-7434-01A-11D-2129-08	6723541	152285838	96964783	8	57340											
NTRK1	4914	broad.mit.edu	37	chr1	156846199	156846199	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcttccatccaggcactgaAggaggcgtccgagagtgctc	8	7	13	13	3	0	2	0	1	0	1	4	4	3	3	3	3	1	3	3	3	1	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:156846199A>C	ENST00000368196.3	+	13	1742	c.1622A>C	c.(1621-1623)aAg>aCg	p.K541T	NTRK1_ENST00000358660.3_Missense_Mutation_p.K544T|NTRK1_ENST00000392302.2_Missense_Mutation_p.K511T|NTRK1_ENST00000524377.1_Missense_Mutation_p.K547T	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	547	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CAGGCACTGAAGGAGGCGTCC	0.657			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			6	27					0	0	0	0	C	156846199	A	C	156846199	3	2	322	1	0	0	0	0	1	0	0	0	10777	72	3	5	1824	5	NTRK1	1	156846199	Missense_Mutation	SNP	A	TCGA-CV-7434-01A-11D-2129-08	4560361	156846199	92404422	9	57341											
FASLG	356	broad.mit.edu	37	chr1	172634881	172634881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaaactgggctgtactttGtatattccaaagtatacttc	12	15	7	7	0	0	1	0	1	0	0	2	1	1	1	1	1	3	4	1	1	7	8			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:172634881G>T	ENST00000367721.2	+	4	755	c.571G>T	c.(571-573)Gta>Tta	p.V191L	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	191					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GCTGTACTTTGTATATTCCAA	0.468													25	61					1.42536e-11	1.75624e-11	1	0	T	172634881	G	T	172634881	3	4	322	1	0	0	0	0	1	0	0	0	5727	1377	48	4	585	4	FASLG	1	172634881	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	15788682	172634881	76615740	10	57342											
RASAL2	9462	broad.mit.edu	37	chr1	178423671	178423671	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgctttcttttggagatctCtaatccagacaccatctcaa	10	13	6	12	1	3	2	1	0	3	2	6	3	4	2	2	1	0	1	2	1	2	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:178423671C>G	ENST00000448150.3	+	12	2863	c.2045C>G	c.(2044-2046)tCt>tGt	p.S682C	RASAL2_ENST00000367649.3_Missense_Mutation_p.S700C|RASAL2_ENST00000462775.1_Missense_Mutation_p.S552C	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	552					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTGGAGATCTCTAATCCAGAC	0.423													37	77					0	0	0	0	G	178423671	C	G	178423671	3	3	322	1	0	0	0	0	1	0	0	0	13146	913	32	2	2162	2	RASAL2	1	178423671	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	5788790	178423671	70826950	11	57343											
C1orf27	54953	broad.mit.edu	37	chr1	186367550	186367550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttatatccacagcagtaaaCccaaagttaaagatgctgtg	15	10	7	9	0	0	1	0	0	0	1	1	1	1	1	2	0	3	4	2	0	7	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:186367550C>A	ENST00000367470.3	+	9	1053	c.817C>A	c.(817-819)Ccc>Acc	p.P273T	C1orf27_ENST00000432021.3_Missense_Mutation_p.P273T|C1orf27_ENST00000287859.6_Missense_Mutation_p.P296T|C1orf27_ENST00000419367.3_Missense_Mutation_p.P264T	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	296						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						CAGCAGTAAACCCAAAGTTAA	0.378													28	30					7.41945e-09	8.53237e-09	1	0	A	186367550	C	A	186367550	3	1	322	1	0	0	0	0	1	0	0	0	2056	507	18	4	920	4	C1orf27	1	186367550	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	7943879	186367550	62883071	12	57344											
KCNT2	343450	broad.mit.edu	37	chr1	196309633	196309633	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtagaattcataatgtatcGaggacctggattcagcaaaa	15	11	9	6	1	2	1	2	0	0	1	3	4	2	3	1	2	1	3	1	2	6	5			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:196309633G>A	ENST00000367433.5	-	16	1722	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.R152*|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.R541*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R491*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	541	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATAATGTATCGAGGACCTGGA	0.323													14	34					0	0	0	0	A	196309633	G	A	196309633	4	1	322	1	0	0	0	0	0	1	0	0	8145	1066	37	1	1838	1	KCNT2	1	196309633	Nonsense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	9942083	196309633	52940988	13	57345											
KIF14	9928	broad.mit.edu	37	chr1	200555247	200555247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgtaaaagttttatcccTattattccgattctgctgta	10	17	5	9	1	1	0	0	0	1	0	3	1	3	0	3	0	1	4	3	0	6	8			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:200555247T>C	ENST00000367350.4	-	19	3661	c.3223A>G	c.(3223-3225)Agg>Ggg	p.R1075G		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1075	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTTTTATCCCTATTATTCCGA	0.303													3	42					0	0	0	0	C	200555247	T	C	200555247	3	2	322	1	0	0	0	0	1	0	0	0	8327	1521	53	5	1771	5	KIF14	1	200555247	Missense_Mutation	SNP	T	TCGA-CV-7434-01A-11D-2129-08	4245614	200555247	48695374	14	57346											
OBSCN	84033	broad.mit.edu	37	chr1	228434319	228434319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacactgagctgtgaggtggCccaggcccagacagaggtga	10	5	15	11	0	0	5	0	3	0	2	0	5	0	5	2	4	1	1	2	4	0	0			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:228434319C>A	ENST00000570156.2	+	14	4198	c.4124C>A	c.(4123-4125)gCc>gAc	p.A1375D	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1283D|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1283D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	357	Ig-like 14.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTGAGGTGGCCCAGGCCCAG	0.612													33	45					2.85442e-18	3.71613e-18	1	0	A	228434319	C	A	228434319	3	1	322	1	0	0	0	0	1	0	0	0	10883	739	26	4	3894	4	OBSCN	1	228434319	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	27879072	228434319	20816302	15	57347											
C1orf198	84886	broad.mit.edu	37	chr1	231004121	231004121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgcggatcttctccttGtcctgcatgatcttcctggc	3	16	8	14	2	4	1	0	1	4	0	8	2	6	2	3	2	1	1	3	2	0	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:231004121G>T	ENST00000366663.5	-	1	278	c.138C>A	c.(136-138)gaC>gaA	p.D46E	C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000470540.1_Missense_Mutation_p.D8E	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	46										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCTTCTCCTTGTCCTGCATGA	0.682													15	16					1.15088e-07	1.25056e-07	1	0	T	231004121	G	T	231004121	3	4	322	1	0	0	0	0	1	0	0	0	2045	1368	48	4	861	4	C1orf198	1	231004121	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	2569802	231004121	18246500	16	57348											
CCDC85A	114800	broad.mit.edu	37	chr2	56420052	56420052	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccggagcacctgcagaaGccccggagcgagggcagccc	9	1	15	16	3	0	1	0	0	0	1	0	4	0	3	5	3	6	3	5	3	1	0			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:56420052G>A	ENST00000407595.2	+	2	1219	c.717G>A	c.(715-717)aaG>aaA	p.K239K	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	239	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCTGCAGAAGCCCCGGAGCG	0.672													16	18					0	0	0	0	A	56420052	G	A	56420052	2	1	322	1	0	0	0	0	0	0	0	1	2886	962	34	4		4	CCDC85A	2	56420052	Silent	SNP	G	TCGA-CV-7434-01A-11D-2129-08		56420052	186779321	17	57349											
ANKRD36	375248	broad.mit.edu	37	chr2	97784187	97784187	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctctgcactacgctgtgtAtaatgaagatacatccatga	12	12	8	9	1	1	3	0	2	1	1	2	3	2	3	1	0	4	4	1	0	5	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:97784187A>G	ENST00000420699.2	+	3	663	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	ANKRD36_ENST00000461153.2_Missense_Mutation_p.Y140C	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	140										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TACGCTGTGTATAATGAAGAT	0.398													21	11					0	0	0	0	G	97784187	A	G	97784187	3	3	322	1	0	0	0	0	1	0	0	0	664	449	16	5	429	5	ANKRD36	2	97784187	Missense_Mutation	SNP	A	TCGA-CV-7434-01A-11D-2129-08	41364135	97784187	145415186	18	57350											
RGPD4	285190	broad.mit.edu	37	chr2	108475958	108475958	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaaacagctttgtacagaaAgacaaaaatcttggtgggat	16	10	10	5	0	1	2	0	0	1	2	1	3	1	3	0	2	3	3	0	2	6	4	rs142985549	by1000genomes	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:108475958A>G	ENST00000408999.3	+	11	1659	c.1582A>G	c.(1582-1584)Aga>Gga	p.R528G	RGPD4_ENST00000354986.4_Missense_Mutation_p.R528G	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	528					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTGTACAGAAAGACAAAAATC	0.393													8	230					0	0	0	0	G	108475958	A	G	108475958	3	3	322	1	0	0	0	0	1	0	0	0	13370	64	3	5	1624	5	RGPD4	2	108475958	Missense_Mutation	SNP	A	TCGA-CV-7434-01A-11D-2129-08	10691771	108475958	134723415	19	57351											
SCN9A	6335	broad.mit.edu	37	chr2	167055277	167055277	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctttgttacactatcatAtgaaggtggagaggtggtgg	9	13	15	4	0	1	2	1	1	0	1	1	3	1	2	0	6	1	2	0	6	4	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:167055277A>G	ENST00000303354.6	-	27	6215	c.5875T>C	c.(5875-5877)Tat>Cat	p.Y1959H	SCN9A_ENST00000409435.1_Missense_Mutation_p.Y1958H|SCN9A_ENST00000375387.4_Missense_Mutation_p.Y1959H|SCN9A_ENST00000409672.1_Missense_Mutation_p.Y1947H|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1958						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACACTATCATATGAAGGTGGA	0.358													3	17					0	0	0	0	G	167055277	A	G	167055277	3	3	322	1	0	0	0	0	1	0	0	0	14012	449	16	5	98	5	SCN9A	2	167055277	Missense_Mutation	SNP	A	TCGA-CV-7434-01A-11D-2129-08	58579319	167055277	76144096	20	57352											
FARSB	10056	broad.mit.edu	37	chr2	223497951	223497951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcattgaaaggacgacacCattgctatcatagataactg	15	9	9	8	1	1	2	1	1	0	1	1	4	1	3	1	2	2	2	1	2	4	5			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:223497951C>A	ENST00000281828.6	-	7	945	c.682G>T	c.(682-684)Ggt>Tgt	p.G228C	FARSB_ENST00000536361.1_Missense_Mutation_p.G129C	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	228					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	AGGACGACACCATTGCTATCA	0.333													32	83					9.62906e-15	1.21909e-14	1	0	A	223497951	C	A	223497951	3	1	322	1	0	0	0	0	1	0	0	0	5725	594	21	4	1131	4	FARSB	2	223497951	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	56442674	223497951	19701422	21	57353											
ARMC9	80210	broad.mit.edu	37	chr2	232209757	232209757	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcggggatgagccccTgcaaaggcccgtcacccccg	7	4	15	15	3	1	1	1	1	0	0	1	3	1	3	5	4	3	1	5	4	1	0			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:232209757T>A	ENST00000349938.4	+	21	2143	c.1949T>A	c.(1948-1950)cTg>cAg	p.L650Q	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	650							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GATGAGCCCCTGCAAAGGCCC	0.547													33	52					0	0	0	0	A	232209757	T	A	232209757	3	1	322	1	0	0	0	0	1	0	0	0	962	1580	55	5	2027	5	ARMC9	2	232209757	Missense_Mutation	SNP	T	TCGA-CV-7434-01A-11D-2129-08	8711806	232209757	10989616	22	57354											
PLXNB1	5364	broad.mit.edu	37	chr3	48451945	48451945	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcgtcagaaagaatgaggtgCccggccaccccagaccgcca	11	4	11	15	3	1	4	1	1	0	3	2	4	1	4	6	2	1	0	6	2	2	0			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:48451945C>A	ENST00000358536.4	-	30	5708	c.5439G>T	c.(5437-5439)ggG>ggT	p.G1813G	PLXNB1_ENST00000456774.1_Silent_p.G1630G|PLXNB1_ENST00000448774.2_Silent_p.G424G|PLXNB1_ENST00000358459.4_Silent_p.G1630G|PLXNB1_ENST00000296440.6_Silent_p.G1813G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1813					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAATGAGGTGCCCGGCCACCC	0.597													18	21					4.96729e-08	5.48389e-08	1	0	A	48451945	C	A	48451945	2	1	322	1	0	0	0	0	0	0	0	1	12195	726	26	4		4	PLXNB1	3	48451945	Silent	SNP	C	TCGA-CV-7434-01A-11D-2129-08		48451945	149570485	23	57355											
SHISA5	51246	broad.mit.edu	37	chr3	48510918	48510918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgggcggcacacttggaGgctgaggataaggggcatgc	9	6	18	8	1	0	1	0	1	0	0	0	3	0	3	0	7	2	4	0	7	1	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:48510918G>T	ENST00000296444.2	-	5	821	c.485C>A	c.(484-486)cCt>cAt	p.P162H	SHISA5_ENST00000426002.1_Missense_Mutation_p.P59H|SHISA5_ENST00000443308.2_Missense_Mutation_p.P155H|SHISA5_ENST00000442747.1_Missense_Mutation_p.P131H|SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000444115.1_Missense_Mutation_p.P131H	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	162	Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						CACACTTGGAGGCTGAGGATA	0.607													13	20					2.27111e-07	2.44854e-07	1	0	T	48510918	G	T	48510918	3	4	322	1	0	0	0	0	1	0	0	0	14371	1000	35	4	245	4	SHISA5	3	48510918	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	58973	48510918	149511512	24	57356											
RNF123	63891	broad.mit.edu	37	chr3	49742142	49742142	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctccagtcaaccgccAtggatgacctagatgaggat	11	8	12	10	1	1	3	1	2	0	1	2	6	2	6	4	3	2	1	4	3	2	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:49742142A>G	ENST00000327697.6	+	22	2056	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	RNF123_ENST00000432042.1_Missense_Mutation_p.M492V	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	638						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTCAACCGCCATGGATGACCT	0.587													4	6					0	0	0	0	G	49742142	A	G	49742142	3	3	322	1	0	0	0	0	1	0	0	0	13518	217	8	5	1994	5	RNF123	3	49742142	Missense_Mutation	SNP	A	TCGA-CV-7434-01A-11D-2129-08	1231224	49742142	148280288	25	57357											
SEMA3B	7869	broad.mit.edu	37	chr3	50308040	50308040	+	RNA	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgggatgagggcagggaggtCgaggtggctgaggtctgggg	6	7	24	4	1	1	2	0	2	1	0	2	5	1	4	0	9	0	2	0	9	0	0	rs55689339	by1000genomes	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:50308040C>G	ENST00000418948.1	+	0	564							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCAGGGAGGTCGAGGTGGCTG	0.657													3	11					0	0	0	0	G	50308040	C	G	50308040	1	3	322	0	1	0	0	0	0	0	0	0	14112	899	31	3		3	SEMA3B	3	50308040	RNA	SNP	C	TCGA-CV-7434-01A-11D-2129-08	565898	50308040	147714390	26	57358											
EPHB1	2047	broad.mit.edu	37	chr3	134884901	134884901	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgtgtccttggtggccatCtctatcgtctgtagcaggta	5	15	12	9	1	2	0	0	0	2	0	5	0	3	0	2	3	1	4	2	3	3	5			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:134884901C>T	ENST00000398015.3	+	8	2047	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	EPHB1_ENST00000493838.1_Silent_p.I120I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	559						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGTGGCCATCTCTATCGTCT	0.587													32	106					0	0	0	0	T	134884901	C	T	134884901	2	4	322	1	0	0	0	0	0	0	0	1	5212	903	32	2		2	EPHB1	3	134884901	Silent	SNP	C	TCGA-CV-7434-01A-11D-2129-08	84576861	134884901	63137529	27	57359											
ZIC1	7545	broad.mit.edu	37	chr3	147128258	147128258	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagcgcacagcacagccTctttgctgcatcggccgggg	7	6	13	15	3	1	0	0	0	1	0	2	0	1	0	3	3	6	4	3	3	0	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:147128258T>C	ENST00000282928.4	+	1	1088	c.359T>C	c.(358-360)cTc>cCc	p.L120P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	120					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CAGCACAGCCTCTTTGCTGCA	0.706													16	40					0	0	0	0	C	147128258	T	C	147128258	3	2	322	1	0	0	0	0	1	0	0	0	17773	1551	54	5	361	5	ZIC1	3	147128258	Missense_Mutation	SNP	T	TCGA-CV-7434-01A-11D-2129-08	12243357	147128258	50894172	28	57360											
ATP11B	23200	broad.mit.edu	37	chr3	182597414	182597414	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctgtattatgctgtcgtAtggctccactgcagaaagca	10	11	10	10	1	0	1	0	0	0	1	2	1	1	1	1	1	4	7	1	1	4	3			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:182597414A>G	ENST00000323116.5	+	20	2643	c.2383A>G	c.(2383-2385)Atg>Gtg	p.M795V		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	795					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATGCTGTCGTATGGCTCCACT	0.353													22	67					0	0	0	0	G	182597414	A	G	182597414	3	3	322	1	0	0	0	0	1	0	0	0	1124	449	16	5	2461	5	ATP11B	3	182597414	Missense_Mutation	SNP	A	TCGA-CV-7434-01A-11D-2129-08	35469156	182597414	15425016	29	57361											
CCDC50	152137	broad.mit.edu	37	chr3	191098615	191098615	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattgactgtattttgtttAggaaatcgctcgacttctaa	11	17	7	6	2	1	1	0	1	1	0	3	3	1	2	0	1	0	3	0	1	5	9			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:191098615A>C	ENST00000392455.3	+	8	1207		c.e8-1		CCDC50_ENST00000392456.3_Splice_Site	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TATTTTGTTTAGGAAATCGCT	0.368													11	42					0	0	0	0	C	191098615	A	C	191098615	5	2	322	1	0	0	0	0	0	0	1	0	2847	434	15	5	1170	5	CCDC50	3	191098615	Splice_Site	SNP	A	TCGA-CV-7434-01A-11D-2129-08	8501201	191098615	6923815	30	57362											
GPR125	166647	broad.mit.edu	37	chr4	22439976	22439976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcctcgtattattcccacGtttggtctggacatgacagc	8	13	9	11	2	1	1	0	1	1	0	4	2	3	2	2	2	1	2	2	2	2	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:22439976G>A	ENST00000334304.5	-	8	1257	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	GPR125_ENST00000508133.1_Missense_Mutation_p.R104C|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.R330C	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	330	Ig-like.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTATTCCCACGTTTGGTCTGG	0.423													29	46					0	0	0	0	A	22439976	G	A	22439976	3	1	322	1	0	0	0	0	1	0	0	0	6688	1145	40	1	3025	1	GPR125	4	22439976	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08		22439976	168714300	31	57363											
SHROOM3	57619	broad.mit.edu	37	chr4	77676119	77676119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatatctgagtctgtcctgCgggactccccgccacctcat	7	10	9	15	2	3	1	1	1	2	0	5	3	5	2	5	1	1	0	5	1	2	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:77676119C>T	ENST00000296043.6	+	7	5436	c.4483C>T	c.(4483-4485)Cgg>Tgg	p.R1495W		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1495					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTCTGTCCTGCGGGACTCCCC	0.577													20	55					0	0	0	0	T	77676119	C	T	77676119	3	4	322	1	0	0	0	0	1	0	0	0	14383	759	27	1	4509	1	SHROOM3	4	77676119	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	55236143	77676119	113478157	32	57364											
CENPE	1062	broad.mit.edu	37	chr4	104070291	104070291	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttactgtagcttcaatttctCttatatatcctctaaggtgg	9	18	6	8	0	3	0	1	0	2	0	5	0	4	0	1	2	2	2	1	2	7	8			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:104070291C>G	ENST00000265148.3	-	27	3760	c.3671G>C	c.(3670-3672)aGa>aCa	p.R1224T	CENPE_ENST00000380026.3_Missense_Mutation_p.R1199T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1224					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCAATTTCTCTTATATATCC	0.338													21	39					0	0	0	0	G	104070291	C	G	104070291	3	3	322	1	0	0	0	0	1	0	0	0	3259	913	32	2	4526	2	CENPE	4	104070291	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	26394172	104070291	87083985	33	57365											
SEC24B	10427	broad.mit.edu	37	chr4	110442694	110442694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtctccaacaggtggccGtgtgtctgtatttcagacac	9	12	10	10	1	3	1	1	0	2	1	4	1	3	1	2	2	1	1	2	2	3	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:110442694G>T	ENST00000265175.5	+	14	2475	c.2420G>T	c.(2419-2421)cGt>cTt	p.R807L	SEC24B_ENST00000399100.2_Missense_Mutation_p.R772L|SEC24B_ENST00000504968.2_Missense_Mutation_p.R837L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	807					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	p.R807H(1)|p.R772H(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACAGGTGGCCGTGTGTCTGTA	0.428													18	21					4.96729e-08	5.48389e-08	1	0	T	110442694	G	T	110442694	3	4	322	1	0	0	0	0	1	0	0	0	14082	1145	40	3	2474	3	SEC24B	4	110442694	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	6372403	110442694	80711582	34	57366											
HELT	391723	broad.mit.edu	37	chr4	185940787	185940787	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgagcgcagggcgaacctCaggaggctctggcgcagatc	8	5	15	13	3	2	2	1	1	1	1	3	4	2	3	2	4	2	3	2	4	1	0			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:185940787C>T	ENST00000338875.4	+	3	274	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	HELT_ENST00000505610.1_Intron|HELT_ENST00000515777.1_Intron	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	92	Helix-loop-helix motif.						DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GGGCGAACCTCAGGAGGCTCT	0.746													3	13					0	0	0	0	T	185940787	C	T	185940787	4	4	322	1	0	0	0	0	0	1	0	0	7098	827	29	2	284	2	HELT	4	185940787	Nonsense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	75498093	185940787	5213489	35	57367											
TIMD4	91937	broad.mit.edu	37	chr5	156346537	156346537	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggacatttttactatcTccaatgtagtctagcctgta	10	16	7	8	0	2	1	0	1	2	0	3	2	2	2	2	1	2	2	2	1	6	8			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr5:156346537T>A	ENST00000274532.2	-	9	1124	c.1068A>T	c.(1066-1068)ggA>ggT	p.G356G	TIMD4_ENST00000406964.1_Silent_p.G58G|TIMD4_ENST00000407087.3_Silent_p.G328G	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	356						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTACTATCTCCAATGTAGT	0.423													19	37					0	0	0	0	A	156346537	T	A	156346537	2	1	322	1	0	0	0	0	0	0	0	1	15997	1538	54	5		5	TIMD4	5	156346537	Silent	SNP	T	TCGA-CV-7434-01A-11D-2129-08		156346537	24568723	36	57368											
ME1	4199	broad.mit.edu	37	chr6	83937086	83937091	+	In_Frame_Del	DEL	ATTCTG	ATTCTG	-																															gtagcactgctctgcagaacAttctgctttgctagttggat																										TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:83937086_83937091delATTCTG	ENST00000369705.3	-	11	1354_1359	c.1238_1243delCAGAAT	c.(1237-1245)ggt>g	p.AEC413del	ME1_ENST00000543031.1_In_Frame_Del_p.AEC338del|ME1_ENST00000541327.1_In_Frame_Del_p.AEC247del	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	413					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCTGCAGAACATTCTGCTTTGCTAGT	0.35													8	43	---	---	---	---					-	83937091	ATTCTG	-	83937086	7	5	322	1	0	1	0	1	0	0	0	0	9486	217	8	0	491	0	ME1	6	83937086	In_Frame_Del	DEL	ATTCTG	TCGA-CV-7434-01A-11D-2129-08		83937086	87177981	37	57369											
OSTM1	28962	broad.mit.edu	37	chr6	108370556	108370556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacagaaacagcaattacagGcactgtgtcactgcaaggga	15	6	10	10	0	1	1	1	0	0	1	1	2	1	2	0	2	4	3	0	2	4	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:108370556G>A	ENST00000193322.3	-	5	935	c.850C>T	c.(850-852)Cct>Tct	p.P284S		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	284						integral to membrane				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		GCAATTACAGGCACTGTGTCA	0.398													20	119					0	0	0	0	A	108370556	G	A	108370556	3	1	322	1	0	0	0	0	1	0	0	0	11369	1203	42	4	162	4	OSTM1	6	108370556	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	24433470	108370556	62744511	38	57370											
LACE1	246269	broad.mit.edu	37	chr6	108645100	108645100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttatttgaaagctttggccGtttgccatggacctctggac	7	14	10	10	1	1	1	0	1	1	0	1	3	1	3	3	3	2	2	3	3	2	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:108645100G>A	ENST00000368977.4	+	2	397	c.211G>A	c.(211-213)Gtt>Att	p.V71I		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	71							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AGCTTTGGCCGTTTGCCATGG	0.398													118	74					0	0	0	0	A	108645100	G	A	108645100	3	1	322	1	0	0	0	0	1	0	0	0	8648	1145	40	1	217	1	LACE1	6	108645100	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	274544	108645100	62469967	39	57371											
DCBLD1	285761	broad.mit.edu	37	chr6	117865742	117865742	+	Splice_Site	DEL	T	T	-																															gcagaggctcagaaaacaggTtggttgaaaactctatctac																										TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:117865742delT	ENST00000338728.5	+	13	1615		c.e13+2		DCBLD1_ENST00000368503.4_Splice_Site|DCBLD1_ENST00000534777.1_Splice_Site|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Splice_Site			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1						cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		AGAAAACAGGTTGGTTGAAAA	0.403													13	45	---	---	---	---					-	117865742	T	-	117865742	8	5	322	1	0	1	0	1	0	0	1	0	4312	1739	60	0	1547	0	DCBLD1	6	117865742	Splice_Site	DEL	T	TCGA-CV-7434-01A-11D-2129-08	9220642	117865742	53249325	40	57372											
ACAT2	39	broad.mit.edu	37	chr6	160199796	160199796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagagaatgggcagaagtCgtggtgttgcagccctgtgc	8	9	17	7	1	0	2	0	0	0	2	1	4	0	3	1	3	3	3	1	3	2	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:160199796C>T	ENST00000367048.4	+	9	2889	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	ACAT2_ENST00000541436.1_Missense_Mutation_p.R406C|ACAT2_ENST00000472052.1_3'UTR|TCP1_ENST00000321394.7_3'UTR	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	377						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGGCAGAAGTCGTGGTGTTGC	0.478													33	108					0	0	0	0	T	160199796	C	T	160199796	3	4	322	1	0	0	0	0	1	0	0	0	122	884	31	1	1163	1	ACAT2	6	160199796	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	42334054	160199796	10915271	41	57373											
TNRC18	84629	broad.mit.edu	37	chr7	5427413	5427413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccactgcaatgcccacaGgcgggtgtcgcacttctgcc	7	7	11	16	2	1	0	0	0	1	0	2	0	1	0	3	2	4	2	3	2	1	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr7:5427413G>A	ENST00000399537.4	-	5	2390	c.2042C>T	c.(2041-2043)cCt>cTt	p.P681L	TNRC18_ENST00000430969.1_Missense_Mutation_p.P681L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	681							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AATGCCCACAGGCGGGTGTCG	0.701													20	35					0	0	0	0	A	5427413	G	A	5427413	3	1	322	1	0	0	0	0	1	0	0	0	16433	1000	35	4	6968	4	TNRC18	7	5427413	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08		5427413	153711250	42	57374											
TMEM168	64418	broad.mit.edu	37	chr7	112424255	112424255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaaaaataacaaaactGcaaaaataactaagtttgga	24	7	6	4	0	0	0	0	0	0	0	0	2	0	2	0	2	4	2	0	2	10	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr7:112424255G>T	ENST00000312814.5	-	2	1186	c.626C>A	c.(625-627)gCa>gAa	p.A209E	TMEM168_ENST00000454074.1_Missense_Mutation_p.A209E	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	209						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TAACAAAACTGCAAAAATAAC	0.333													11	40					6.40141e-05	6.64207e-05	1	0	T	112424255	G	T	112424255	3	4	322	1	0	0	0	0	1	0	0	0	16177	1319	46	4	1483	4	TMEM168	7	112424255	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	106996842	112424255	46714408	43	57375											
CTTNBP2	83992	broad.mit.edu	37	chr7	117351685	117351685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatttgccttgtattactgCtgctgctgcttcttttggtg	3	20	9	9	0	1	0	0	0	1	0	1	0	1	0	1	1	6	5	1	1	3	8			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr7:117351685C>T	ENST00000160373.3	-	23	4989	c.4898G>A	c.(4897-4899)aGc>aAc	p.S1633N	CFTR_ENST00000429014.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1633										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGTATTACTGCTGCTGCTGCT	0.383													4	89					0	0	0	0	T	117351685	C	T	117351685	3	4	322	1	0	0	0	0	1	0	0	0	4077	797	28	4	97	4	CTTNBP2	7	117351685	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	4927430	117351685	41786978	44	57376											
FAM135B	51059	broad.mit.edu	37	chr8	139165127	139165127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtatccacatctgccaCtggatatgtcccagcatcag	12	9	8	12	0	2	1	1	0	1	1	4	2	4	2	3	1	2	2	3	1	3	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr8:139165127C>G	ENST00000395297.1	-	13	1761	c.1591G>C	c.(1591-1593)Gtg>Ctg	p.V531L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	531								p.V531L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACATCTGCCACTGGATATGTC	0.458										HNSCC(54;0.14)			34	125					0	0	0	0	G	139165127	C	G	139165127	3	3	322	1	0	0	0	0	1	0	0	0	5490	565	20	4	2661	4	FAM135B	8	139165127	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08		139165127	7198895	45	57377											
ZNF251	90987	broad.mit.edu	37	chr8	145947838	145947839	+	Frame_Shift_Del	DEL	TC	TC	-																															ttcattacatacatagggttTctctccagtatgaacccgat																										TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr8:145947838_145947839delTC	ENST00000292562.7	-	5	1481_1482	c.1206_1207delGA	c.(1204-1209)gaaafs	p.EK402fs	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACATAGGGTTTCTCTCCAGTAT	0.441													45	214	---	---	---	---					-	145947839	TC	-	145947838	7	5	322	1	0	1	0	1	0	0	0	0	17891	1792	62	0	812	0	ZNF251	8	145947838	Frame_Shift_Del	DEL	TC	TCGA-CV-7434-01A-11D-2129-08	6782711	145947838	416184	46	57378											
INSL4	3641	broad.mit.edu	37	chr9	5233853	5233853	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtaatttgtgacgatggAacttcagttaaattatgtac	14	14	9	4	1	1	1	1	1	0	0	1	4	1	2	0	1	2	3	0	1	7	6			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr9:5233853A>G	ENST00000239316.4	+	2	501	c.396A>G	c.(394-396)ggA>ggG	p.G132G		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	132					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GTGACGATGGAACTTCAGTTA	0.363													38	99					0	0	0	0	G	5233853	A	G	5233853	2	3	322	1	0	0	0	0	0	0	0	1	7821	233	9	5		5	INSL4	9	5233853	Silent	SNP	A	TCGA-CV-7434-01A-11D-2129-08		5233853	135979578	47	57379											
ZNF510	22869	broad.mit.edu	37	chr9	99522150	99522150	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattatattcctccacagttGacttctcaaaggatttccca	11	15	4	11	0	1	1	1	1	1	0	5	2	4	2	3	1	0	1	3	1	4	7			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr9:99522150G>C	ENST00000375231.1	-	6	1612	c.962C>G	c.(961-963)tCa>tGa	p.S321*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.S321*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTCCACAGTTGACTTCTCAAA	0.358													24	78					0	0	0	0	C	99522150	G	C	99522150	4	2	322	1	0	0	0	0	0	1	0	0	18049	1294	45	2	1093	2	ZNF510	9	99522150	Nonsense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	94288297	99522150	41691281	48	57380											
TEX10	54881	broad.mit.edu	37	chr9	103091488	103091488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacttcaataacaaagtcCgaactggaaggataaggccc	18	6	8	9	1	1	0	1	0	0	0	2	3	2	2	2	3	3	0	2	3	8	3			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr9:103091488C>A	ENST00000374902.4	-	7	1735	c.1559G>T	c.(1558-1560)cGg>cTg	p.R520L	TEX10_ENST00000535814.1_Missense_Mutation_p.R523L	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	520						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TAACAAAGTCCGAACTGGAAG	0.343													52	195					2.81731e-22	3.70275e-22	1	0	A	103091488	C	A	103091488	3	1	322	1	0	0	0	0	1	0	0	0	15866	652	23	3	1266	3	TEX10	9	103091488	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	3569338	103091488	38121943	49	57381											
CACNA1B	774	broad.mit.edu	37	chr9	140811748	140811748	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggccccagcccggctgtgCgagggcgacactgagtgccg	6	4	17	14	4	0	1	0	1	0	0	0	4	0	1	4	3	3	1	4	3	0	0			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr9:140811748C>T	ENST00000371372.1	+	6	976	c.831C>T	c.(829-831)tgC>tgT	p.C277C	CACNA1B_ENST00000277551.2_Silent_p.C277C|CACNA1B_ENST00000371357.1_Silent_p.C277C|CACNA1B_ENST00000371355.4_Silent_p.C277C|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.C277C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	277					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCGGCTGTGCGAGGGCGACA	0.572													43	54					0	0	0	0	T	140811748	C	T	140811748	2	4	322	1	0	0	0	0	0	0	0	1	2564	776	27	1		1	CACNA1B	9	140811748	Silent	SNP	C	TCGA-CV-7434-01A-11D-2129-08	37720260	140811748	401683	50	57382											
CTNNA3	29119	broad.mit.edu	37	chr10	68139106	68139106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgacatcttccaagatatgGctttctgtaagtaaatgaat	13	15	7	6	0	2	3	0	2	2	1	3	3	3	3	1	1	0	3	1	1	6	6			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr10:68139106G>T	ENST00000433211.1	-	12	1710	c.1536C>A	c.(1534-1536)agC>agA	p.S512R	CTNNA3_ENST00000373744.4_Missense_Mutation_p.S512R	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	512					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCAAGATATGGCTTTCTGTAA	0.378													18	40					2.35188e-11	2.87221e-11	1	0	T	68139106	G	T	68139106	3	4	322	1	0	0	0	0	1	0	0	0	4046	1194	42	4	1179	4	CTNNA3	10	68139106	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08		68139106	67395641	51	57383											
DDIT4	54541	broad.mit.edu	37	chr10	74034470	74034470	+	Frame_Shift_Del	DEL	G	G	-																															cagacacggcttacctggatGgggtgtcgttgcccgacttc																										TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr10:74034470delG	ENST00000307365.3	+	3	424	c.223delG	c.(223-225)ggfs	p.G75fs		NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	75					apoptosis			p.G75R(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TTACCTGGATGGGGTGTCGTT	0.587													64	133	---	---	---	---					-	74034470	G	-	74034470	7	5	322	1	0	1	0	1	0	0	0	0	4363	1348	47	0	229	0	DDIT4	10	74034470	Frame_Shift_Del	DEL	G	TCGA-CV-7434-01A-11D-2129-08	5895364	74034470	61500277	52	57384											
CTBP2	1488	broad.mit.edu	37	chr10	126682531	126682531	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgccacgggctgcgttCacaaggaatgctccctgcct	7	7	12	15	3	1	0	1	0	0	0	2	1	2	1	4	3	3	3	4	3	2	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr10:126682531C>A	ENST00000309035.6	-	6	2554	c.2424G>T	c.(2422-2424)gtG>gtT	p.V808V	CTBP2_ENST00000337195.5_Silent_p.V268V|CTBP2_ENST00000334808.6_Silent_p.V336V|CTBP2_ENST00000411419.2_Silent_p.V268V|CTBP2_ENST00000531469.1_Silent_p.V268V|CTBP2_ENST00000494626.2_Silent_p.V268V	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	268					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGGCTGCGTTCACAAGGAATG	0.557													40	66					3.4345e-17	4.42954e-17	1	0	A	126682531	C	A	126682531	2	1	322	1	0	0	0	0	0	0	0	1	4030	813	29	2		2	CTBP2	10	126682531	Silent	SNP	C	TCGA-CV-7434-01A-11D-2129-08	52648061	126682531	8852216	53	57385											
OSBPL5	114879	broad.mit.edu	37	chr11	3121473	3121473	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgccgtccagcagcgcCgacagcgagttccctgcaga	7	7	12	15	4	0	1	0	0	0	1	2	3	2	1	4	0	5	4	4	0	0	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:3121473C>T	ENST00000263650.7	-	14	1695	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	OSBPL5_ENST00000389989.3_Silent_p.S444S|OSBPL5_ENST00000542243.1_Silent_p.S143S|OSBPL5_ENST00000525498.1_Silent_p.S423S|OSBPL5_ENST00000348039.5_Silent_p.S444S	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	512					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCAGCAGCGCCGACAGCGAGT	0.607													11	13					0	0	0	0	T	3121473	C	T	3121473	2	4	322	1	0	0	0	0	0	0	0	1	11351	639	23	1		1	OSBPL5	11	3121473	Silent	SNP	C	TCGA-CV-7434-01A-11D-2129-08		3121473	131885043	54	57386											
OR5D14	219436	broad.mit.edu	37	chr11	55563815	55563815	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccatccttttcctttacTgtgtacccaactccaaaaac	11	12	4	14	0	0	0	0	0	0	0	3	1	3	1	5	1	4	1	5	1	5	5			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:55563815T>A	ENST00000335605.1	+	1	784	c.784T>A	c.(784-786)Tgt>Agt	p.C262S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTTCCTTTACTGTGTACCCAA	0.488													21	30					0	0	0	0	A	55563815	T	A	55563815	3	1	322	1	0	0	0	0	1	0	0	0	11226	1580	55	5	786	5	OR5D14	11	55563815	Missense_Mutation	SNP	T	TCGA-CV-7434-01A-11D-2129-08	52442342	55563815	79442701	55	57387											
MARK2	2011	broad.mit.edu	37	chr11	63666242	63666242	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtctcttacaggagaggtAtttgattacctagtggctca	9	14	11	7	0	2	2	1	1	1	1	3	3	2	2	1	4	2	2	1	4	4	5			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:63666242A>G	ENST00000402010.2	+	6	990	c.411A>G	c.(409-411)gtA>gtG	p.V137V	MARK2_ENST00000408948.3_Silent_p.V104V|MARK2_ENST00000315032.8_Silent_p.V137V|MARK2_ENST00000509502.2_Silent_p.V104V|MARK2_ENST00000508192.1_Silent_p.V137V|MARK2_ENST00000425897.2_Silent_p.V104V|MARK2_ENST00000502399.3_Silent_p.V137V|MARK2_ENST00000413835.2_Silent_p.V137V|MARK2_ENST00000361128.5_Silent_p.V137V|MARK2_ENST00000377810.3_Silent_p.V104V|MARK2_ENST00000513765.2_Silent_p.V104V|MARK2_ENST00000377809.4_Silent_p.V137V|MARK2_ENST00000350490.7_Silent_p.V137V	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	137	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGGAGAGGTATTTGATTACC	0.552													17	52					0	0	0	0	G	63666242	A	G	63666242	2	3	322	1	0	0	0	0	0	0	0	1	9382	436	16	5		5	MARK2	11	63666242	Silent	SNP	A	TCGA-CV-7434-01A-11D-2129-08	8102427	63666242	71340274	56	57388											
CPT1A	1374	broad.mit.edu	37	chr11	68552321	68552321	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgccagcctggcctccccGggctgaggctccgaggtatt	4	8	14	15	2	0	1	0	1	0	0	2	2	2	1	6	4	2	4	6	4	1	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:68552321G>A	ENST00000265641.5	-	10	1279	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	CPT1A_ENST00000540367.1_Silent_p.P375P|CPT1A_ENST00000539743.1_Silent_p.P375P|CPT1A_ENST00000376618.2_Silent_p.P375P	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	375					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TGGCCTCCCCGGGCTGAGGCT	0.642													28	30					0	0	0	0	A	68552321	G	A	68552321	2	1	322	1	0	0	0	0	0	0	0	1	3861	1103	39	1		1	CPT1A	11	68552321	Silent	SNP	G	TCGA-CV-7434-01A-11D-2129-08	4886079	68552321	66454195	57	57389											
GRIA4	2893	broad.mit.edu	37	chr11	105804580	105804580	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaaatttgcctttctcctgGagtccactatgaatgaatac	11	13	7	10	0	1	2	0	2	1	0	3	3	2	3	3	1	2	1	3	1	5	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:105804580G>T	ENST00000393127.2	+	14	2625	c.2179G>T	c.(2179-2181)Gag>Tag	p.E727*	GRIA4_ENST00000530497.1_Nonsense_Mutation_p.E727*|GRIA4_ENST00000525187.1_Nonsense_Mutation_p.E727*|GRIA4_ENST00000282499.5_Nonsense_Mutation_p.E727*	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	727					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CTTTCTCCTGGAGTCCACTAT	0.488													20	31					4.63292e-17	5.91985e-17	1	0	T	105804580	G	T	105804580	4	4	322	1	0	0	0	0	0	1	0	0	6820	1175	41	2	2266	2	GRIA4	11	105804580	Nonsense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	37252259	105804580	29201936	58	57390											
ADAMTS8	11095	broad.mit.edu	37	chr11	130275888	130275888	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagagatggccaggttgccGttgagcaggtactgcccatc	8	8	14	11	1	0	2	0	1	0	1	1	3	0	2	3	3	4	5	3	3	1	3			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:130275888G>A	ENST00000257359.6	-	9	2941	c.2235C>T	c.(2233-2235)aaC>aaT	p.N745N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	745	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCAGGTTGCCGTTGAGCAGGT	0.597													17	70					0	0	0	0	A	130275888	G	A	130275888	2	1	322	1	0	0	0	0	0	0	0	1	272	1136	40	1		1	ADAMTS8	11	130275888	Silent	SNP	G	TCGA-CV-7434-01A-11D-2129-08	24471308	130275888	4730628	59	57391											
FMNL3	91010	broad.mit.edu	37	chr12	50044492	50044492	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatctcctcagccgagCggccagccttgcgtagggtg	6	8	14	13	3	2	1	1	0	1	1	3	2	2	1	4	2	5	2	4	2	1	2	rs149056505	by1000genomes	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:50044492C>A	ENST00000335154.5	-	17	2200	c.1967G>T	c.(1966-1968)cGc>cTc	p.R656L	FMNL3_ENST00000550488.1_Missense_Mutation_p.R656L|FMNL3_ENST00000293590.5_Missense_Mutation_p.R656L|FMNL3_ENST00000352151.5_Missense_Mutation_p.R605L	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	656	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CTCAGCCGAGCGGCCAGCCTT	0.582													23	32					4.72057e-08	5.29625e-08	1	0	A	50044492	C	A	50044492	3	1	322	1	0	0	0	0	1	0	0	0	5998	768	27	3	1156	3	FMNL3	12	50044492	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08		50044492	83807403	60	57392											
DAZAP2	9802	broad.mit.edu	37	chr12	51636287	51636287	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaagacatcacataccttCagcacttctcacaatgtaac	15	9	5	12	0	3	1	3	0	1	1	4	2	3	2	1	1	3	2	1	1	4	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:51636287C>T	ENST00000549555.1	+	4	559	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000412716.3_3'UTR|DAZAP2_ENST00000551313.1_3'UTR|DAZAP2_ENST00000549732.2_3'UTR|DAZAP2_ENST00000449723.3_3'UTR|DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000439799.2_3'UTR	NM_001136266.1	NP_001129738.1	Q15038	DAZP2_HUMAN	DAZ associated protein 2	0							WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CACATACCTTCAGCACTTCTC	0.483													19	46					0	0	0	0	T	51636287	C	T	51636287	4	4	322	1	0	0	0	0	0	1	0	0	4278	827	29	2	566	2	DAZAP2	12	51636287	Nonsense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	1591795	51636287	82215608	61	57393											
NR4A1	3164	broad.mit.edu	37	chr12	52451148	52451148	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccaggtctaagccaggCgagggcaagctcatcttctg	8	8	12	13	1	4	0	1	0	3	0	4	1	4	0	3	3	3	2	3	3	2	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:52451148C>A	ENST00000545748.1	+	7	2531	c.1536C>A	c.(1534-1536)ggC>ggA	p.G512G	NR4A1_ENST00000360284.3_Silent_p.G471G|NR4A1_ENST00000243050.1_Silent_p.G458G|NR4A1_ENST00000394824.2_Silent_p.G458G|NR4A1_ENST00000394825.1_Silent_p.G458G|NR4A1_ENST00000550082.1_Silent_p.G471G			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	458					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTAAGCCAGGCGAGGGCAAGC	0.607													17	33					3.41278e-10	4.06003e-10	1	0	A	52451148	C	A	52451148	2	1	322	1	0	0	0	0	0	0	0	1	10703	755	27	3		3	NR4A1	12	52451148	Silent	SNP	C	TCGA-CV-7434-01A-11D-2129-08	814861	52451148	81400747	62	57394											
PA2G4	5036	broad.mit.edu	37	chr12	56506656	56506656	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggaaacattagaagaaaAtgaagctggggactgaggtg	15	7	16	3	0	0	4	0	2	0	2	0	6	0	6	0	5	2	1	0	5	6	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:56506656A>G	ENST00000303305.6	+	13	1588	c.1169A>G	c.(1168-1170)aAt>aGt	p.N390S	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	390	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TTAGAAGAAAATGAAGCTGGG	0.517													27	65					0	0	0	0	G	56506656	A	G	56506656	3	3	322	1	0	0	0	0	1	0	0	0	11432	101	4	5	1219	5	PA2G4	12	56506656	Missense_Mutation	SNP	A	TCGA-CV-7434-01A-11D-2129-08	4055508	56506656	77345239	63	57395											
RAB21	23011	broad.mit.edu	37	chr12	72176380	72176380	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgggagcaaaacattaTcatacttcagccaaacagaa	16	9	7	9	0	3	1	2	0	1	1	3	2	3	2	1	1	5	1	1	1	6	3			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:72176380T>G	ENST00000261263.3	+	6	733	c.477T>G	c.(475-477)taT>taG	p.Y159*		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	159					protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)	6						CAAAACATTATCATACTTCAG	0.303													10	22					0	0	0	0	G	72176380	T	G	72176380	4	3	322	1	0	0	0	0	0	1	0	0	12990	1442	50	5	499	5	RAB21	12	72176380	Nonsense_Mutation	SNP	T	TCGA-CV-7434-01A-11D-2129-08	15669724	72176380	61675515	64	57396											
ACSS3	79611	broad.mit.edu	37	chr12	81545669	81545669	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtcatgctacactggtCaatgtcttccatatacggac	9	12	8	12	2	3	0	2	0	1	0	4	1	4	1	1	2	3	2	1	2	4	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:81545669C>A	ENST00000548058.1	+	6	1878	c.968C>A	c.(967-969)tCa>tAa	p.S323*	ACSS3_ENST00000548324.1_Nonsense_Mutation_p.S5*|ACSS3_ENST00000261206.3_Nonsense_Mutation_p.S322*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	323						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTACACTGGTCAATGTCTTCC	0.353													19	45					5.26018e-13	6.59913e-13	1	0	A	81545669	C	A	81545669	4	1	322	1	0	0	0	0	0	1	0	0	190	838	29	2	990	2	ACSS3	12	81545669	Nonsense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	9369289	81545669	52306226	65	57397											
CMKLR1	1240	broad.mit.edu	37	chr12	108686279	108686279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggccatgtaagccaggCgaacgctgcggtggttctgg	7	8	16	10	3	1	0	0	0	1	0	1	1	1	0	2	5	4	4	2	5	2	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:108686279C>T	ENST00000397688.2	-	3	824	c.455G>A	c.(454-456)cGc>cAc	p.R152H	CMKLR1_ENST00000550402.1_Missense_Mutation_p.R154H|CMKLR1_ENST00000312143.7_Missense_Mutation_p.R154H|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R152H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R154H	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	154					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTAAGCCAGGCGAACGCTGCG	0.562													10	38					0	0	0	0	T	108686279	C	T	108686279	3	4	322	1	0	0	0	0	1	0	0	0	3609	768	27	1	664	1	CMKLR1	12	108686279	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	27140610	108686279	25165616	66	57398											
TPTE2	93492	broad.mit.edu	37	chr13	20025355	20025355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtttcttatctagaaacCgcacaacttcctaaaaaaga	16	11	5	9	1	2	2	0	0	2	2	3	3	3	2	2	0	2	2	2	0	7	5			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr13:20025355C>T	ENST00000400230.2	-	11	796	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	TPTE2_ENST00000457266.2_Missense_Mutation_p.R140Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.R211Q|TPTE2_ENST00000382977.4_Missense_Mutation_p.R251Q|TPTE2_ENST00000390680.2_Missense_Mutation_p.R174Q|TPTE2_ENST00000382978.1_Missense_Mutation_p.R211Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.R140Q|TPTE2_ENST00000255310.6_Missense_Mutation_p.R174Q			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	251	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATCTAGAAACCGCACAACTTC	0.338													20	41					0	0	0	0	T	20025355	C	T	20025355	3	4	322	1	0	0	0	0	1	0	0	0	16526	652	23	1	856	1	TPTE2	13	20025355	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08		20025355	95144523	67	57399											
PCDH9	5101	broad.mit.edu	37	chr13	67802486	67802486	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggcaattcctctctaatAgtgtaaataagttcttgagc	12	14	7	8	0	3	1	1	1	2	0	5	1	4	1	1	1	1	3	1	1	6	7			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr13:67802486A>T	ENST00000544246.1	-	2	778	c.87T>A	c.(85-87)acT>acA	p.T29T	PCDH9_ENST00000377861.3_Silent_p.T29T|PCDH9_ENST00000328454.5_Silent_p.T29T|PCDH9_ENST00000456367.1_Silent_p.T29T|PCDH9_ENST00000377865.2_Silent_p.T29T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	29	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCTCTCTAATAGTGTAAATAA	0.433													27	42					0	0	0	0	T	67802486	A	T	67802486	2	4	322	1	0	0	0	0	0	0	0	1	11589	407	15	5		5	PCDH9	13	67802486	Silent	SNP	A	TCGA-CV-7434-01A-11D-2129-08	47777131	67802486	47367392	68	57400											
TPP2	7174	broad.mit.edu	37	chr13	103271177	103271177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatgactgcttggtatggCatgatggcgaagtctggagg	9	12	15	5	1	1	2	0	2	1	0	1	4	1	3	0	5	1	3	0	5	4	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr13:103271177C>T	ENST00000376052.3	+	5	617	c.601C>T	c.(601-603)Cat>Tat	p.H201Y	TPP2_ENST00000376065.4_Missense_Mutation_p.H201Y			P29144	TPP2_HUMAN	tripeptidyl peptidase II	201					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGGTATGGCATGATGGCGA	0.368													29	85					0	0	0	0	T	103271177	C	T	103271177	3	4	322	1	0	0	0	0	1	0	0	0	16507	710	25	4	619	4	TPP2	13	103271177	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	35468691	103271177	11898701	69	57401											
SEC23A	10484	broad.mit.edu	37	chr14	39509955	39509955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgcctccatgttcaGtgtcaatgtatcttggcatt	6	15	9	11	0	3	0	2	0	1	0	4	0	4	0	3	2	1	4	3	2	2	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr14:39509955G>A	ENST00000537403.1	-	14	2719	c.1517C>T	c.(1516-1518)aCt>aTt	p.T506I	SEC23A_ENST00000307712.6_Missense_Mutation_p.T708I|SEC23A_ENST00000536508.1_Missense_Mutation_p.T606I|SEC23A_ENST00000545328.2_Missense_Mutation_p.T679I			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	708					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCCATGTTCAGTGTCAATGTA	0.428													83	84					0	0	0	0	A	39509955	G	A	39509955	3	1	322	1	0	0	0	0	1	0	0	0	14078	1029	36	4	186	4	SEC23A	14	39509955	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08		39509955	67839585	70	57402											
SOS2	6655	broad.mit.edu	37	chr14	50597308	50597308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtatttggagaggttGgtgctgacactgttgattcc	7	15	14	5	0	0	3	0	2	0	1	1	4	1	3	1	4	1	4	1	4	1	5			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr14:50597308G>T	ENST00000216373.5	-	20	3522	c.3248C>A	c.(3247-3249)cCa>cAa	p.P1083Q	SOS2_ENST00000543680.1_Missense_Mutation_p.P1050Q	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1083					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGGAGAGGTTGGTGCTGACAC	0.423													65	83					1.32218e-49	1.77146e-49	1	0	T	50597308	G	T	50597308	3	4	322	1	0	0	0	0	1	0	0	0	15025	1348	47	4	766	4	SOS2	14	50597308	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	11087353	50597308	56752232	71	57403											
ZC3H14	79882	broad.mit.edu	37	chr14	89063145	89063145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcagaaactctgcagatGagtcaaggttggtaatgttt	12	12	12	5	0	2	3	1	1	1	2	2	3	2	3	0	3	2	5	0	3	3	3			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr14:89063145G>A	ENST00000251038.5	+	10	1572	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	ZC3H14_ENST00000359301.3_Missense_Mutation_p.M415I|ZC3H14_ENST00000336693.4_Missense_Mutation_p.M415I|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000556945.1_Missense_Mutation_p.M449I|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000555900.1_Missense_Mutation_p.M151I|ZC3H14_ENST00000555755.1_Missense_Mutation_p.M449I|ZC3H14_ENST00000318308.6_Missense_Mutation_p.M151I|ZC3H14_ENST00000557607.1_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	449						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CTCTGCAGATGAGTCAAGGTT	0.383													23	56					0	0	0	0	A	89063145	G	A	89063145	3	1	322	1	0	0	0	0	1	0	0	0	17661	1290	45	2	1774	2	ZC3H14	14	89063145	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	38465837	89063145	18286395	72	57404											
TTC7B	145567	broad.mit.edu	37	chr14	91007854	91007854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccgttccagacctcgtggGctgtcgagttcacctgcacc	5	9	11	16	3	1	1	1	0	0	1	4	2	2	1	5	1	1	4	5	1	0	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr14:91007854G>T	ENST00000357056.2	-	21	2562	c.2441C>A	c.(2440-2442)gCc>gAc	p.A814D	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Missense_Mutation_p.A797D			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	797							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GACCTCGTGGGCTGTCGAGTT	0.647													12	42					1.5842e-08	1.80677e-08	1	0	T	91007854	G	T	91007854	3	4	322	1	0	0	0	0	1	0	0	0	16809	1203	42	4	145	4	TTC7B	14	91007854	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	1944709	91007854	16341686	73	57405											
PLA2G4E	123745	broad.mit.edu	37	chr15	42292147	42292147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcacctgaccatcggaaaGgcagtcgaggggctggctga	10	6	14	11	2	1	2	1	2	0	0	3	4	1	3	2	5	0	3	2	5	1	0			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr15:42292147G>A	ENST00000399518.3	-	9	1390	c.904C>T	c.(904-906)Ctt>Ttt	p.L302F	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L273F	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	295					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CCATCGGAAAGGCAGTCGAGG	0.642													4	6					0	0	0	0	A	42292147	G	A	42292147	3	1	322	1	0	0	0	0	1	0	0	0	12077	1000	35	4	1750	4	PLA2G4E	15	42292147	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08		42292147	60239245	74	57406											
STRA6	64220	broad.mit.edu	37	chr15	74490148	74490148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggtatgctggtgtggcagGagggcacttccctgcagagc	6	9	17	9	0	0	1	0	0	0	1	1	2	1	2	1	5	3	5	1	5	1	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr15:74490148G>A	ENST00000323940.5	-	3	370	c.125C>T	c.(124-126)tCc>tTc	p.S42F	STRA6_ENST00000563965.1_Missense_Mutation_p.S81F|STRA6_ENST00000395105.4_Missense_Mutation_p.S42F|STRA6_ENST00000432245.2_Missense_Mutation_p.S42F|STRA6_ENST00000535552.1_Missense_Mutation_p.S79F|STRA6_ENST00000449139.2_Missense_Mutation_p.S42F|STRA6_ENST00000574278.1_Missense_Mutation_p.S57F|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Missense_Mutation_p.S42F|STRA6_ENST00000416286.3_Missense_Mutation_p.S42F	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	42					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGTGTGGCAGGAGGGCACTTC	0.622													3	25					0	0	0	0	A	74490148	G	A	74490148	3	1	322	1	0	0	0	0	1	0	0	0	15412	1174	41	2	1996	2	STRA6	15	74490148	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	32198001	74490148	28041244	75	57407											
CREBBP	1387	broad.mit.edu	37	chr16	3788645	3788645	+	Missense_Mutation	SNP	T	T	A																															acgtggccggaagaaatgaaTactatccagataagaaatgt																										TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:3788645T>A	ENST00000262367.5	-	26	5118	c.4309A>T	c.(4309-4311)Att>Ttt	p.I1437F	CREBBP_ENST00000382070.3_Missense_Mutation_p.I1399F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1437	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGAAATGAATACTATCCAGA	0.418			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						3	19					0	0	0	0	A	3788645	T	A	3788645	3	1	322	1	0	0	0	0	1	0	0	0	3891	1406	49	5	3043	5	CREBBP	16	3788645	Missense_Mutation	SNP	T	TCGA-CV-7434-01A-11D-2129-08		3788645	86566108	76	57408	468	2									
CREBBP	1387	broad.mit.edu	37	chr16	3788646	3788646	+	Missense_Mutation	SNP	A	A	C																															cgtggccggaagaaatgaatActatccagataagaaatgta																										TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:3788646A>C	ENST00000262367.5	-	26	5117	c.4308T>G	c.(4306-4308)agT>agG	p.S1436R	CREBBP_ENST00000382070.3_Missense_Mutation_p.S1398R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1436	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGAAATGAATACTATCCAGAT	0.418			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						4	18					0	0	0	0	C	3788646	A	C	3788646	3	2	322	1	0	0	0	0	1	0	0	0	3891	388	14	5	3044	5	CREBBP	16	3788646	Missense_Mutation	SNP	A	TCGA-CV-7434-01A-11D-2129-08	1	3788646	86566107	77	57409	468	2									
ERCC4	2072	broad.mit.edu	37	chr16	14029437	14029437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctttcggaatcctgaaagaaCccctcactatcatccatccg	11	10	5	15	2	2	2	2	1	0	1	6	3	5	3	5	1	1	0	5	1	4	2	rs139197943		TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:14029437C>T	ENST00000311895.7	+	8	1657	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	550					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CCTGAAAGAACCCCTCACTAT	0.463			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				22	53					0	0	0	0	T	14029437	C	T	14029437	3	4	322	1	0	0	0	0	1	0	0	0	5253	507	18	4	1678	4	ERCC4	16	14029437	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	10240791	14029437	76325316	78	57410											
ACSM2B	348158	broad.mit.edu	37	chr16	20570579	20570579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcgaatgcagcccaggAtcaccagccaccactcaggc	10	5	9	17	1	2	0	2	0	0	0	3	2	2	1	4	2	4	2	4	2	1	0			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:20570579A>G	ENST00000329697.6	-	3	536	c.368T>C	c.(367-369)aTc>aCc	p.I123T	ACSM2B_ENST00000567001.1_Missense_Mutation_p.I123T|ACSM2B_ENST00000565232.1_Missense_Mutation_p.I123T|ACSM2B_ENST00000565322.1_Missense_Mutation_p.I44T|ACSM2B_ENST00000414188.2_Missense_Mutation_p.I123T	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	123					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCAGCCCAGGATCACCAGCCA	0.577													8	17					0	0	0	0	G	20570579	A	G	20570579	3	3	322	1	0	0	0	0	1	0	0	0	184	333	12	5	1413	5	ACSM2B	16	20570579	Missense_Mutation	SNP	A	TCGA-CV-7434-01A-11D-2129-08	6541142	20570579	69784174	79	57411											
CLN3	1201	broad.mit.edu	37	chr16	28497943	28497943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaaggtgacctccccaagGcctgatgagatgctagcgaa	12	6	13	10	1	0	3	0	3	0	1	1	6	1	4	4	3	2	1	4	3	4	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:28497943G>A	ENST00000569430.1	-	9	1308	c.489C>T	c.(487-489)ggC>ggT	p.G163G	CLN3_ENST00000333496.9_Silent_p.G139G|CLN3_ENST00000357806.7_Intron|CLN3_ENST00000360019.2_Silent_p.G163G|CLN3_ENST00000357857.9_Silent_p.G109G|CLN3_ENST00000567963.1_Silent_p.G163G|CLN3_ENST00000568224.1_Silent_p.G85G|CLN3_ENST00000354630.5_Silent_p.G163G|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000565316.1_Silent_p.G163G|CLN3_ENST00000535392.1_Silent_p.G85G|CLN3_ENST00000395653.4_Silent_p.G63G|CLN3_ENST00000359984.7_Silent_p.G163G|CLN3_ENST00000355477.5_Silent_p.G163G			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	163					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CCTCCCCAAGGCCTGATGAGA	0.607													3	9					0	0	0	0	A	28497943	G	A	28497943	2	1	322	1	0	0	0	0	0	0	0	1	3573	1190	42	4		4	CLN3	16	28497943	Silent	SNP	G	TCGA-CV-7434-01A-11D-2129-08	7927364	28497943	61856810	80	57412											
CENPBD1	92806	broad.mit.edu	37	chr16	90038291	90038291	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccgttcccttttggcacTagggatgacagttgcatctg	6	15	10	10	1	1	1	0	1	1	0	3	2	3	2	2	2	1	4	2	2	1	6			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:90038291T>G	ENST00000314994.3	-	1	651	c.40A>C	c.(40-42)Agt>Cgt	p.S14R	RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	14	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|lung(2)	3						CTTTTGGCACTAGGGATGACA	0.502													9	23					0	0	0	0	G	90038291	T	G	90038291	3	3	322	1	0	0	0	0	1	0	0	0	3257	1522	53	5	527	5	CENPBD1	16	90038291	Missense_Mutation	SNP	T	TCGA-CV-7434-01A-11D-2129-08	61540348	90038291	316462	81	57413											
ACADVL	37	broad.mit.edu	37	chr17	7124963	7124963	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcctgctctttggcacaaAggcccagaaagaaaaatacc	15	7	7	12	0	1	2	0	0	1	2	2	2	2	2	3	2	2	2	3	2	5	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr17:7124963A>G	ENST00000356839.5	+	7	763	c.584A>G	c.(583-585)aAg>aGg	p.K195R	ACADVL_ENST00000543245.2_Missense_Mutation_p.K218R|ACADVL_ENST00000581562.1_Intron|ACADVL_ENST00000350303.5_Missense_Mutation_p.K173R	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	195	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						TTTGGCACAAAGGCCCAGAAA	0.577													27	57					0	0	0	0	G	7124963	A	G	7124963	3	3	322	1	0	0	0	0	1	0	0	0	116	72	3	5	610	5	ACADVL	17	7124963	Missense_Mutation	SNP	A	TCGA-CV-7434-01A-11D-2129-08		7124963	74070247	82	57414											
TP53	7157	broad.mit.edu	37	chr17	7578527	7578527	+	Frame_Shift_Del	DEL	A	A	-																															gcaggtcttggccagttggcAaaacatcttgttgagggcag																										TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr17:7578527delA	ENST00000420246.2	-	5	535	c.403delT	c.(403-405)gcfs	p.C135fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.C135fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C135fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C135fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C135R(11)|p.0?(8)|p.C135G(6)|p.C135fs*35(4)|p.C135S(4)|p.N131fs*27(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.C135fs*36(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F134fs*14(1)|p.C42R(1)|p.M133fs*13(1)|p.C3R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCAGTTGGCAAAACATCTTG	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	11	---	---	---	---					-	7578527	A	-	7578527	7	5	322	1	0	1	0	1	0	0	0	0	16476	130	5	0	895	0	TP53	17	7578527	Frame_Shift_Del	DEL	A	TCGA-CV-7434-01A-11D-2129-08	453564	7578527	73616683	83	57415											
ACACA	31	broad.mit.edu	37	chr17	35631184	35631184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttcctgccagtccacaCgaagacctgcaacagacaat	13	8	6	14	1	0	2	0	0	0	2	2	3	2	2	4	0	3	1	4	0	3	2	rs73982299	byFrequency	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr17:35631184C>T	ENST00000353139.5	-	9	1389	c.908G>A	c.(907-909)cGt>cAt	p.R303H	ACACA_ENST00000360679.3_Missense_Mutation_p.R208H|ACACA_ENST00000335166.5_Missense_Mutation_p.R188H|ACACA_ENST00000394406.2_Missense_Mutation_p.R266H	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	266	ATP-grasp.|Biotin carboxylation.			E -> K (in Ref. 1; AAC50139).	acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCAGTCCACACGAAGACCTGC	0.388													26	46					0	0	0	0	T	35631184	C	T	35631184	3	4	322	1	0	0	0	0	1	0	0	0	106	536	19	1	6435	1	ACACA	17	35631184	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	28052657	35631184	45564026	84	57416											
RAB5C	5878	broad.mit.edu	37	chr17	40282496	40282496	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctggtccattgggtcGtgctgcgcctccccgacccg	4	8	13	16	4	0	0	0	0	0	0	3	1	2	0	5	2	4	3	5	2	0	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr17:40282496G>A	ENST00000393860.3	-	3	341	c.25C>T	c.(25-27)Cga>Tga	p.R9*	RAB5C_ENST00000346213.4_Nonsense_Mutation_p.R9*|CTD-2132N18.3_ENST00000592574.1_Nonsense_Mutation_p.R9*|RAB5C_ENST00000547517.1_Nonsense_Mutation_p.R42*	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	9					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCATTGGGTCGTGCTGCGCCT	0.602													11	19					0	0	0	0	A	40282496	G	A	40282496	4	1	322	1	0	0	0	0	0	1	0	0	13032	1153	40	1	645	1	RAB5C	17	40282496	Nonsense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	4651312	40282496	40912714	85	57417											
MGAT5B	146664	broad.mit.edu	37	chr17	74944756	74944756	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacagcaccgagtcggagAtgaaccacctgtacccggcg	10	5	13	13	4	0	3	0	2	0	1	1	5	0	3	4	2	3	2	4	2	2	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr17:74944756A>T	ENST00000569840.2	+	18	2789	c.2215A>T	c.(2215-2217)Atg>Ttg	p.M739L	MGAT5B_ENST00000428789.2_Missense_Mutation_p.M748L|MGAT5B_ENST00000301618.4_Missense_Mutation_p.M737L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	739						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGTCGGAGATGAACCACCT	0.652													4	9					0	0	0	0	T	74944756	A	T	74944756	3	4	322	1	0	0	0	0	1	0	0	0	9618	333	12	5	2376	5	MGAT5B	17	74944756	Missense_Mutation	SNP	A	TCGA-CV-7434-01A-11D-2129-08	34662260	74944756	6250454	86	57418											
CDH2	1000	broad.mit.edu	37	chr18	25593761	25593761	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttggcatgctcagaagaGagtggaaagcttctcacggc	12	8	12	9	1	2	2	2	0	1	2	3	4	2	3	0	3	3	3	0	3	3	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr18:25593761G>C	ENST00000269141.3	-	3	708	c.285C>G	c.(283-285)ctC>ctG	p.L95L	CDH2_ENST00000399380.3_Silent_p.L64L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	95					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTCAGAAGAGAGTGGAAAGC	0.448													24	21					0	0	0	0	C	25593761	G	C	25593761	2	2	322	1	0	0	0	0	0	0	0	1	3134	929	33	2		2	CDH2	18	25593761	Silent	SNP	G	TCGA-CV-7434-01A-11D-2129-08		25593761	52483487	87	57419											
CCDC159	126075	broad.mit.edu	37	chr19	11464486	11464486	+	Silent	SNP	G	G	T																															aggtctgctgtgcacgtgctGcagaactccatagacagcct																										TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:11464486G>T	ENST00000588790.1	+	11	1155	c.708G>T	c.(706-708)ctG>ctT	p.L236L	CCDC159_ENST00000458408.1_Silent_p.L236L			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	351										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGCACGTGCTGCAGAACTCCA	0.602													4	7					1.23904e-05	1.30525e-05	1	0	T	11464486	G	T	11464486	2	4	322	1	0	0	0	0	0	0	0	1	2817	1306	46	4		4	CCDC159	19	11464486	Silent	SNP	G	TCGA-CV-7434-01A-11D-2129-08		11464486	47664497	88	57420	469	2									
CCDC159	126075	broad.mit.edu	37	chr19	11464488	11464488	+	Missense_Mutation	SNP	A	A	T																															gtctgctgtgcacgtgctgcAgaactccatagacagcctca																										TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:11464488A>T	ENST00000588790.1	+	11	1157	c.710A>T	c.(709-711)cAg>cTg	p.Q237L	CCDC159_ENST00000458408.1_Missense_Mutation_p.Q237L			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	352										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CACGTGCTGCAGAACTCCATA	0.597													4	7					0	0	0	0	T	11464488	A	T	11464488	3	4	322	1	0	0	0	0	1	0	0	0	2817	188	7	5	744	5	CCDC159	19	11464488	Missense_Mutation	SNP	A	TCGA-CV-7434-01A-11D-2129-08	2	11464488	47664495	89	57421	469	2									
ZNF333	84449	broad.mit.edu	37	chr19	14805946	14805946	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggaccctggcctccagggGtaaggctggcgtcacctggc	6	6	15	14	1	1	0	1	0	0	0	2	1	2	1	4	7	0	2	4	7	1	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:14805946G>A	ENST00000292530.6	+	3	218		c.e3+1		ZNF333_ENST00000601629.1_Splice_Site|ZNF333_ENST00000601134.1_Splice_Site|ZNF333_ENST00000536363.1_Splice_Site|ZNF333_ENST00000540689.2_Splice_Site	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GCCTCCAGGGGTAAGGCTGGC	0.582													13	26					0	0	0	0	A	14805946	G	A	14805946	5	1	322	1	0	0	0	0	0	0	1	0	17945	1275	44	4	134	4	ZNF333	19	14805946	Splice_Site	SNP	G	TCGA-CV-7434-01A-11D-2129-08	3341458	14805946	44323037	90	57422											
JAK3	3718	broad.mit.edu	37	chr19	17941381	17941381	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaccccgaagctccagacGtctgactggcgagagaagat	12	5	12	12	4	1	4	0	1	1	3	2	8	2	4	3	1	1	1	3	1	2	0			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:17941381G>A	ENST00000458235.1	-	22	3126	c.3027C>T	c.(3025-3027)gaC>gaT	p.D1009D	JAK3_ENST00000534444.1_Silent_p.D1009D|JAK3_ENST00000527670.1_Silent_p.D1009D	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	1009	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGCTCCAGACGTCTGACTGGC	0.597		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								18	24					0	0	0	0	A	17941381	G	A	17941381	2	1	322	1	0	0	0	0	0	0	0	1	7992	1136	40	1		1	JAK3	19	17941381	Silent	SNP	G	TCGA-CV-7434-01A-11D-2129-08	3135435	17941381	41187602	91	57423											
ZNF546	339327	broad.mit.edu	37	chr19	40520277	40520277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgtggcaagacctttaGggtacaacgacatattagtc	11	12	11	7	1	0	1	0	0	0	1	1	2	0	1	1	3	2	3	1	3	6	6			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:40520277G>A	ENST00000347077.4	+	7	1316	c.1100G>A	c.(1099-1101)aGg>aAg	p.R367K	ZNF546_ENST00000600094.1_Missense_Mutation_p.R341K|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGACCTTTAGGGTACAACGA	0.388													18	35					0	0	0	0	A	40520277	G	A	40520277	3	1	322	1	0	0	0	0	1	0	0	0	18073	1000	35	4	1118	4	ZNF546	19	40520277	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	22578896	40520277	18608706	92	57424											
PSG8	440533	broad.mit.edu	37	chr19	43268311	43268311	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtaccagatgtagccagTaagattctggggcaaattgt	11	13	11	6	0	1	2	0	0	1	2	1	2	1	2	2	2	2	4	2	2	4	6			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr19:43268311T>C	ENST00000404209.4	-	2	283	c.187A>G	c.(187-189)Act>Gct	p.T63A	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.T63A|PSG8_ENST00000306511.4_Missense_Mutation_p.T63A	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	63	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATGTAGCCAGTAAGATTCTGG	0.458													90	197					0	0	0	0	C	43268311	T	C	43268311	3	2	322	1	0	0	0	0	1	0	0	0	12740	1638	57	5	1130	5	PSG8	19	43268311	Missense_Mutation	SNP	T	TCGA-CV-7434-01A-11D-2129-08	2748034	43268311	15860672	93	57425											
AP2A1	160	broad.mit.edu	37	chr19	50302996	50302996	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcggtacctggagacGgcagactacgccatccgcga	9	6	13	13	5	0	2	0	0	0	2	1	4	1	2	3	3	4	3	3	3	2	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:50302996G>A	ENST00000354293.5	+	10	1411	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	AP2A1_ENST00000359032.5_Silent_p.T415T	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	415					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ACCTGGAGACGGCAGACTACG	0.642													9	18					0	0	0	0	A	50302996	G	A	50302996	2	1	322	1	0	0	0	0	0	0	0	1	740	1103	39	1		1	AP2A1	19	50302996	Silent	SNP	G	TCGA-CV-7434-01A-11D-2129-08	7034685	50302996	8825987	94	57426											
SIGLEC10	89790	broad.mit.edu	37	chr19	51914599	51914599	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtccgaggactgtttggTgtggctttctgattccgctt	3	15	15	8	2	1	1	0	1	1	0	3	3	3	2	2	5	0	3	2	5	0	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:51914599T>C	ENST00000353836.5	-	10	1784	c.1563A>G	c.(1561-1563)acA>acG	p.T521T	SIGLEC10_ENST00000356298.5_Silent_p.T616T|SIGLEC10_ENST00000339313.5_Silent_p.T616T|SIGLEC10_ENST00000525998.1_Silent_p.T431T|SIGLEC10_ENST00000442846.3_Silent_p.T373T|SIGLEC10_ENST00000441969.3_Silent_p.T463T|SIGLEC10_ENST00000439889.2_Silent_p.T558T|SIGLEC10_ENST00000436984.2_Silent_p.T473T|SIGLEC10_ENST00000432469.2_Silent_p.T438T	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	616					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GACTGTTTGGTGTGGCTTTCT	0.507													27	52					0	0	0	0	C	51914599	T	C	51914599	2	2	322	1	0	0	0	0	0	0	0	1	14394	1683	59	5		5	SIGLEC10	19	51914599	Silent	SNP	T	TCGA-CV-7434-01A-11D-2129-08	1611603	51914599	7214384	95	57427											
KIR3DL3	115653	broad.mit.edu	37	chr19	55239225	55239225	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaccccttgcgcctcgtTggacagctccacgatgcggg	6	7	14	14	4	0	0	0	0	0	0	2	4	1	2	4	3	3	2	4	3	0	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:55239225T>C	ENST00000291860.1	+	4	522	c.504T>C	c.(502-504)gtT>gtC	p.V168V	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	168	Ig-like C2-type 2.		V -> I (in allele KIR3DL3*00101, allele KIR3DL3*00102, allele KIR3DL3*00103, allele KIR3DL3*0030101, allele KIR3DL3*00901, allele KIR3DL3*00902, allele KIR3DL3*010 and allele KIR3DL3*028; dbSNP:rs270790).			integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGCGCCTCGTTGGACAGCTCC	0.557													4	71					0	0	0	0	C	55239225	T	C	55239225	2	2	322	1	0	0	0	0	0	0	0	1	8374	1799	63	5		5	KIR3DL3	19	55239225	Silent	SNP	T	TCGA-CV-7434-01A-11D-2129-08	3324626	55239225	3889758	96	57428											
ZNF671	79891	broad.mit.edu	37	chr19	58232346	58232346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccacatttgccacactGatagagtctttcacccgtgt	8	14	6	13	1	2	2	1	1	1	1	3	2	3	2	3	0	1	0	3	0	1	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:58232346G>T	ENST00000317398.6	-	4	1203	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.Q272K	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGCCACACTGATAGAGTCTT	0.473													18	34					5.01169e-05	5.2395e-05	1	0	T	58232346	G	T	58232346	3	4	322	1	0	0	0	0	1	0	0	0	18173	1299	45	2	500	2	ZNF671	19	58232346	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	2993121	58232346	896637	97	57429											
CSNK2A1	1457	broad.mit.edu	37	chr20	468128	468128	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgactggtggtcatatcGcagcagtttgtccaggaaat	9	11	12	9	2	1	1	1	1	0	0	3	2	2	2	2	3	1	3	2	3	2	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:468128G>A	ENST00000217244.3	-	12	1291	c.916C>T	c.(916-918)Cga>Tga	p.R306*	CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R306*|CSNK2A1_ENST00000400217.1_Nonsense_Mutation_p.R170*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R306*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	306	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TGGTCATATCGCAGCAGTTTG	0.527													39	68					0	0	0	0	A	468128	G	A	468128	4	1	322	1	0	0	0	0	0	1	0	0	3989	1095	38	1	271	1	CSNK2A1	20	468128	Nonsense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08		468128	62557392	98	57430											
ISM1	140862	broad.mit.edu	37	chr20	13279750	13279750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaagcgcaaggacttcCgctggaaggacgccagcggg	10	4	15	12	4	1	0	1	0	0	0	2	3	2	3	2	4	2	3	2	4	3	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:13279750C>T	ENST00000262487.3	+	6	1045	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	347	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CAAGGACTTCCGCTGGAAGGA	0.627													4	26					0	0	0	0	T	13279750	C	T	13279750	3	4	322	1	0	0	0	0	1	0	0	0	7913	652	23	1	1061	1	ISM1	20	13279750	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	12811622	13279750	49745770	99	57431											
VSX1	30813	broad.mit.edu	37	chr20	25057052	25057052	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccattctcagggctcaCtttatctgagcctctctgtg	7	13	8	13	0	4	1	2	1	3	0	6	1	4	1	2	1	2	1	2	1	2	3			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:25057052C>A	ENST00000376709.4	-	5	1206	c.943G>T	c.(943-945)Gtg>Ttg	p.V315L	VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	315					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TCAGGGCTCACTTTATCTGAG	0.547													37	53					5.73237e-09	6.64762e-09	1	0	A	25057052	C	A	25057052	3	1	322	1	0	0	0	0	1	0	0	0	17327	565	20	4	158	4	VSX1	20	25057052	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	11777302	25057052	37968468	100	57432											
PHF20	51230	broad.mit.edu	37	chr20	34389470	34389470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcatccacctaacagacGaggaatcagctttgaagtgg	15	7	10	9	1	1	2	1	1	0	1	2	4	2	3	2	2	3	2	2	2	4	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:34389470G>T	ENST00000374012.3	+	2	155	c.26G>T	c.(25-27)cGa>cTa	p.R9L	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Missense_Mutation_p.R9L			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCTAACAGACGAGGAATCAGC	0.408													15	37					1.5739e-10	1.90524e-10	1	0	T	34389470	G	T	34389470	3	4	322	1	0	0	0	0	1	0	0	0	11903	1058	37	3	28	3	PHF20	20	34389470	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	9332418	34389470	28636050	101	57433											
PTPRT	11122	broad.mit.edu	37	chr20	40730876	40730876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgattcttatcatggttcCggggcaggagcccaatgctg	7	12	12	10	2	2	0	1	0	1	0	4	2	3	1	2	4	2	3	2	4	2	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:40730876C>A	ENST00000373198.3	-	27	3903	c.3668G>T	c.(3667-3669)cGg>cTg	p.R1223L	PTPRT_ENST00000373184.1_Missense_Mutation_p.R1211L|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1201L|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1200L|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1204L|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1191L|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1210L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1201	Tyrosine-protein phosphatase 2.				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)				ATCATGGTTCCGGGGCAGGAG	0.557													20	29					2.4624e-09	2.87975e-09	1	0	A	40730876	C	A	40730876	3	1	322	1	0	0	0	0	1	0	0	0	12894	652	23	3	747	3	PTPRT	20	40730876	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	6341406	40730876	22294644	102	57434											
DGCR14	8220	broad.mit.edu	37	chr22	19130247	19130247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcctcatacagggtggcGggggctcccgggacatcttg	5	8	17	11	2	2	0	1	0	1	0	4	1	4	1	2	6	1	1	2	6	1	2	rs111488352	byFrequency	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:19130247G>A	ENST00000252137.6	-	2	339	c.296C>T	c.(295-297)cCg>cTg	p.P99L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	99					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					ACAGGGTGGCGGGGGCTCCCG	0.582													5	112					0	0	0	0	A	19130247	G	A	19130247	3	1	322	1	0	0	0	0	1	0	0	0	4497	1116	39	1	1170	1	DGCR14	22	19130247	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08		19130247	32174319	103	57435											
MN1	4330	broad.mit.edu	37	chr22	28193502	28193502	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaactcagcccccttcccCcaggatggcgacgtgagcgc	8	5	11	17	3	1	1	1	1	0	0	2	3	2	2	4	2	4	1	4	2	1	1			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:28193502C>G	ENST00000302326.4	-	1	3984	c.3030G>C	c.(3028-3030)tgG>tgC	p.W1010C		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1010							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCCCCTTCCCCCAGGATGGCG	0.692			T	ETV6	"AML, meningioma"								21	42					0	0	0	0	G	28193502	C	G	28193502	3	3	322	1	0	0	0	0	1	0	0	0	9743	624	22	4	940	4	MN1	22	28193502	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08	9063255	28193502	23111064	104	57436											
OSBP2	23762	broad.mit.edu	37	chr22	31286872	31286872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctactccaccacagtgcaccGcatcgccaagcccttcaacc	10	6	5	20	2	1	0	1	0	0	0	3	0	2	0	6	0	4	2	6	0	3	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:31286872G>A	ENST00000332585.6	+	8	1885	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	OSBP2_ENST00000382310.3_Missense_Mutation_p.R545H|OSBP2_ENST00000401475.1_Missense_Mutation_p.R227H|OSBP2_ENST00000446658.2_Missense_Mutation_p.R593H|OSBP2_ENST00000535268.1_Missense_Mutation_p.R138H|OSBP2_ENST00000437268.2_Missense_Mutation_p.R336H|OSBP2_ENST00000407373.1_Missense_Mutation_p.R421H|OSBP2_ENST00000403222.3_Missense_Mutation_p.R428H	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	594					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ACAGTGCACCGCATCGCCAAG	0.642											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	36					0	0	0	0	A	31286872	G	A	31286872	3	1	322	1	0	0	0	0	1	0	0	0	11345	1087	38	1	1811	1	OSBP2	22	31286872	Missense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	3093370	31286872	20017694	105	57437											
CSF2RB	1439	broad.mit.edu	37	chr22	37322077	37322077	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcagtgatgacatgccctgGtcagcctgcccccatccccg	6	8	9	18	1	2	2	2	2	0	0	3	2	3	2	6	1	3	0	6	1	0	0			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:37322077G>A	ENST00000262825.5	+	4	466	c.249G>A	c.(247-249)tgG>tgA	p.W83*	CSF2RB_ENST00000403662.3_Nonsense_Mutation_p.W83*|CSF2RB_ENST00000406230.1_Nonsense_Mutation_p.W83*|CSF2RB_ENST00000536485.1_Nonsense_Mutation_p.W24*	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	83					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ACATGCCCTGGTCAGCCTGCC	0.572													11	36					0	0	0	0	A	37322077	G	A	37322077	4	1	322	1	0	0	0	0	0	1	0	0	3967	1270	44	4	259	4	CSF2RB	22	37322077	Nonsense_Mutation	SNP	G	TCGA-CV-7434-01A-11D-2129-08	6035205	37322077	13982489	106	57438											
CYTH4	27128	broad.mit.edu	37	chr22	37695300	37695300	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaggtcctccaggccttCgtggactgccacgagttcgc	5	9	12	15	3	0	0	0	0	0	0	4	2	2	1	4	3	2	2	4	3	0	2			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:37695300C>T	ENST00000248901.6	+	6	574	c.387C>T	c.(385-387)ttC>ttT	p.F129F	CYTH4_ENST00000405206.3_Silent_p.F129F|CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000402997.1_Silent_p.F129F	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	129	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCCAGGCCTTCGTGGACTGCC	0.657													10	22					0	0	0	0	T	37695300	C	T	37695300	2	4	322	1	0	0	0	0	0	0	0	1	4238	883	31	1		1	CYTH4	22	37695300	Silent	SNP	C	TCGA-CV-7434-01A-11D-2129-08	373223	37695300	13609266	107	57439											
CNKSR2	22866	broad.mit.edu	37	chrX	21534662	21534662	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggacccgagtggtgttatCttaactttgaaaaagcgacc	12	10	11	8	2	1	1	0	1	1	0	1	5	1	2	2	2	2	1	2	2	4	3			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chrX:21534662C>G	ENST00000425654.2	+	9	1350	c.870C>G	c.(868-870)atC>atG	p.I290M	CNKSR2_ENST00000279451.4_Missense_Mutation_p.I290M|CNKSR2_ENST00000379510.3_Missense_Mutation_p.I290M|CNKSR2_ENST00000543067.1_Intron	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	290	PDZ.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTGGTGTTATCTTAACTTTGA	0.433													29	15					0	0	0	0	G	21534662	C	G	21534662	3	3	322	1	0	0	0	0	1	0	0	0	3637	903	32	2	904	2	CNKSR2	23	21534662	Missense_Mutation	SNP	C	TCGA-CV-7434-01A-11D-2129-08		21534662	133735898	108	57440											
ATRX	546	broad.mit.edu	37	chrX	76776335	76776335	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatcaagctcctggctggcTtgtctacttaatgctaacgc	9	12	8	12	1	2	0	1	0	1	0	3	0	3	0	1	2	4	4	1	2	4	4			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chrX:76776335T>C	ENST00000373344.5	-	34	7345	c.7131A>G	c.(7129-7131)caA>caG	p.Q2377Q	ATRX_ENST00000395603.3_Silent_p.Q2339Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2377					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCTGGCTGGCTTGTCTACTTA	0.378			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						17	10					0	0	0	0	C	76776335	T	C	76776335	2	2	322	1	0	0	0	0	0	0	0	1	1212	1606	56	5		5	ATRX	23	76776335	Silent	SNP	T	TCGA-CV-7434-01A-11D-2129-08	55241673	76776335	78494225	109	57441											
PTCHD2	57540	broad.mit.edu	37	chr1	11596425	11596425	+	Missense_Mutation	SNP	G	G	T																															cgtacgctggaggccgtgcgGcacgtgggcgtggccatcgt																										TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:11596425G>T	ENST00000304391.6	+	5	638	c.520G>T	c.(520-522)Gca>Tca	p.A174S	PTCHD2_ENST00000294484.6_Silent_p.R1287R|PTCHD2_ENST00000389575.3_Silent_p.R1287R			Q9P2K9	PTHD2_HUMAN	patched domain containing 2	0					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGGCCGTGCGGCACGTGGGCG	0.677													25	29					2.79863e-10	3.19844e-10	1	0	T	11596425	G	T	11596425	3	4	323	1	0	0	0	0	1	0	0	0	12812	1190	42	4	3939	4	PTCHD2	1	11596425	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08		11596425	237654196	1	57442	470	2									
PTCHD2	57540	broad.mit.edu	37	chr1	11596426	11596426	+	Missense_Mutation	SNP	C	C	T																															gtacgctggaggccgtgcggCacgtgggcgtggccatcgtc																										TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:11596426C>T	ENST00000294484.6	+	21	4000	c.3862C>T	c.(3862-3864)Cac>Tac	p.H1288Y	PTCHD2_ENST00000389575.3_Missense_Mutation_p.H1288Y|PTCHD2_ENST00000304391.6_Missense_Mutation_p.A174V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1288					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCCGTGCGGCACGTGGGCGT	0.672													26	30					0	0	0	0	T	11596426	C	T	11596426	3	4	323	1	0	0	0	0	1	0	0	0	12812	710	25	4	3940	4	PTCHD2	1	11596426	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	1	11596426	237654195	2	57443	470	2									
EPHA10	284656	broad.mit.edu	37	chr1	38227471	38227471	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtccgccgcgatcgtgtcGattttgcggggccggctgcc	2	10	15	14	8	0	0	0	0	0	0	4	2	1	0	4	3	2	1	4	3	0	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:38227471G>A	ENST00000373048.4	-	3	455	c.456C>T	c.(454-456)atC>atT	p.I152I	EPHA10_ENST00000427468.2_Silent_p.I152I|EPHA10_ENST00000319637.6_Silent_p.I152I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	152						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)				CGATCGTGTCGATTTTGCGGG	0.662													13	28					0	0	0	0	A	38227471	G	A	38227471	2	1	323	1	0	0	0	0	0	0	0	1	5204	1048	37	1		1	EPHA10	1	38227471	Silent	SNP	G	TCGA-CV-7435-01A-11D-2129-08	26631045	38227471	211023150	3	57444											
HOOK1	51361	broad.mit.edu	37	chr1	60314747	60314747	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtttctgacattaggtTcaagatcttcatgttaaact	10	19	6	6	0	4	2	2	1	2	1	4	2	4	2	0	1	1	3	0	1	4	7			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:60314747T>G	ENST00000371208.3	+	12	1391	c.1134T>G	c.(1132-1134)gtT>gtG	p.V378V	HOOK1_ENST00000395561.2_Silent_p.V336V|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	378	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GACATTAGGTTCAAGATCTTC	0.338													20	51					0	0	0	0	G	60314747	T	G	60314747	2	3	323	1	0	0	0	0	0	0	0	1	7332	1770	62	5		5	HOOK1	1	60314747	Silent	SNP	T	TCGA-CV-7435-01A-11D-2129-08	22087276	60314747	188935874	4	57445											
PIGK	10026	broad.mit.edu	37	chr1	77632420	77632420	+	Frame_Shift_Del	DEL	A	A	-																															ttacctgtcatataaattagAatattgcttctgtcatcaga																										TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:77632420delA	ENST00000370812.3	-	5	494	c.471delT	c.(469-471)atfs	p.I157fs	PIGK_ENST00000445065.1_Frame_Shift_Del_p.I63fs|PIGK_ENST00000359130.1_Frame_Shift_Del_p.I157fs|PIGK_ENST00000370813.5_Frame_Shift_Del_p.I81fs|PIGK_ENST00000478391.1_5'UTR	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	157					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TATAAATTAGAATATTGCTTC	0.333													18	33	---	---	---	---					-	77632420	A	-	77632420	7	5	323	1	0	1	0	1	0	0	0	0	11962	242	9	0	744	0	PIGK	1	77632420	Frame_Shift_Del	DEL	A	TCGA-CV-7435-01A-11D-2129-08	17317673	77632420	171618201	5	57446											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879069	144879069	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatctcagctcctcagccaGcttctcttctagtccatttt	6	16	5	14	0	4	1	2	1	3	0	8	1	6	1	3	0	3	2	3	0	1	5			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:144879069G>A	ENST00000369359.4	-	30	4827	c.4789C>T	c.(4789-4791)Ctg>Ttg	p.L1597L	PDE4DIP_ENST00000369354.3_Silent_p.L1461L|PDE4DIP_ENST00000369356.4_Silent_p.L1461L|PDE4DIP_ENST00000530740.1_Silent_p.L1597L|PDE4DIP_ENST00000313382.9_Silent_p.L1417L|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1461	NBPF.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.L1461V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTCAGCCAGCTTCTCTTCT	0.517			T	PDGFRB	MPD								15	221					0	0	0	0	A	144879069	G	A	144879069	2	1	323	1	0	0	0	0	0	0	0	1	11714	962	34	4		4	PDE4DIP	1	144879069	Silent	SNP	G	TCGA-CV-7435-01A-11D-2129-08	67246649	144879069	104371552	6	57447											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145281460	145281460	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccaaccagttctcctgcaaAtgcctcacaggcttcacagg	10	8	8	15	0	3	0	2	0	1	0	4	0	3	0	4	2	3	3	4	2	2	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:145281460A>G	ENST00000369340.3	+	5	834	c.390A>G	c.(388-390)aaA>aaG	p.K130K	NOTCH2NL_ENST00000362074.6_Silent_p.K130K|NOTCH2NL_ENST00000344859.3_Silent_p.K130K|RP11-458D21.5_ENST00000468030.1_Silent_p.K130K			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	130	EGF-like 4.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TCTCCTGCAAATGCCTCACAG	0.537													37	404					0	0	0	0	G	145281460	A	G	145281460	2	3	323	1	0	0	0	0	0	0	0	1	10619	98	4	5		5	NOTCH2NL	1	145281460	Silent	SNP	A	TCGA-CV-7435-01A-11D-2129-08	402391	145281460	103969161	7	57448											
CHRNB2	1141	broad.mit.edu	37	chr1	154543837	154543837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgttcgtggacctacgacCgcacagagatcgacttggtg	8	9	12	12	5	0	1	0	0	0	1	3	5	1	2	3	2	1	2	3	2	1	3			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:154543837C>T	ENST00000368476.3	+	5	802	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	180					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GACCTACGACCGCACAGAGAT	0.577													5	48					0	0	0	0	T	154543837	C	T	154543837	3	4	323	1	0	0	0	0	1	0	0	0	3420	652	23	1	556	1	CHRNB2	1	154543837	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	9262377	154543837	94706784	8	57449											
USP21	27005	broad.mit.edu	37	chr1	161132797	161132798	+	Frame_Shift_Ins	INS	-	-	T																															ccgccgggctccaccgatacINSttgccaatggtccagttccc																								rs147410329		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:161132797_161132798insT	ENST00000368002.3	+	7	1359_1360	c.982_983insT	c.(982-984)tgcfs	p.C328fs	USP21_ENST00000289865.8_Frame_Shift_Ins_p.C328fs|USP21_ENST00000368001.1_Frame_Shift_Ins_p.C328fs|USP21_ENST00000487163.1_3'UTR	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	328					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCACCGATACTTGCCAATGGT	0.594													40	88	---	---	---	---					T	161132798	-	T	161132797	7	5	323	1	0	1	1	0	0	0	0	0	17149	565	20	0	1000	0	USP21	1	161132797	Frame_Shift_Ins	INS	-	TCGA-CV-7435-01A-11D-2129-08	6588960	161132797	88117824	9	57450											
CEP350	9857	broad.mit.edu	37	chr1	179983098	179983098	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaaataatataaagaaaCtagcttcatctcttccagat	17	12	4	8	0	2	3	1	1	1	2	4	3	3	3	1	0	2	1	1	0	8	6			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:179983098C>G	ENST00000367607.3	+	10	1928	c.1510C>G	c.(1510-1512)Cta>Gta	p.L504V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	504						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TATAAAGAAACTAGCTTCATC	0.368													18	43					0	0	0	0	G	179983098	C	G	179983098	3	3	323	1	0	0	0	0	1	0	0	0	3283	564	20	4	1544	4	CEP350	1	179983098	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	18850301	179983098	69267523	10	57451											
XPR1	9213	broad.mit.edu	37	chr1	180794421	180794421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatttatggttttcttcCttatcaaccccaccaaaact	11	15	4	11	0	2	0	1	0	1	0	3	1	3	1	4	2	2	1	4	2	5	6			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:180794421C>T	ENST00000367590.4	+	9	1273	c.1075C>T	c.(1075-1077)Ctt>Ttt	p.L359F	XPR1_ENST00000367589.3_Missense_Mutation_p.L359F	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	359						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GGTTTTCTTCCTTATCAACCC	0.423													40	117					0	0	0	0	T	180794421	C	T	180794421	3	4	323	1	0	0	0	0	1	0	0	0	17547	681	24	4	1109	4	XPR1	1	180794421	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	811323	180794421	68456200	11	57452											
IAH1	285148	broad.mit.edu	37	chr2	9628388	9628388	+	Frame_Shift_Del	DEL	T	T	-																															ggtctcttctctacctttgcTgcttccttactggcgggatg																										TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:9628388delT	ENST00000470914.1	+	5	654	c.338delT	c.(337-339)cgfs	p.L114fs	IAH1_ENST00000545602.1_Frame_Shift_Del_p.L114fs|IAH1_ENST00000497473.1_Frame_Shift_Del_p.L227fs|IAH1_ENST00000482918.1_Frame_Shift_Del_p.L114fs			Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	227					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTACCTTTGCTGCTTCCTTAC	0.433													36	84	---	---	---	---					-	9628388	T	-	9628388	7	5	323	1	0	1	0	1	0	0	0	0	7524	1580	55	0	699	0	IAH1	2	9628388	Frame_Shift_Del	DEL	T	TCGA-CV-7435-01A-11D-2129-08		9628388	233570985	12	57453											
CD207	50489	broad.mit.edu	37	chr2	71060135	71060136	+	Frame_Shift_Ins	INS	-	-	C																															agagaaaagtaatagaagttINSccccttgaagtacttccagc																										TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:71060135_71060136insC	ENST00000410009.3	-	4	657_658	c.612_613insG	c.(610-615)ggacttfs	p.L205fs		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	205	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TAATAGAAGTTCCCCTTGAAGT	0.446													21	61	---	---	---	---					C	71060136	-	C	71060135	7	5	323	1	0	1	1	0	0	0	0	0	3012	1783	62	0	385	0	CD207	2	71060135	Frame_Shift_Ins	INS	-	TCGA-CV-7435-01A-11D-2129-08	61431747	71060135	172139238	13	57454											
PLCL1	5334	broad.mit.edu	37	chr2	199011631	199011631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaggccaagagcaagcGcagcctggaagccatagagg	12	4	15	10	1	0	3	0	1	0	2	0	4	0	4	3	3	5	3	3	3	4	1			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:199011631G>A	ENST00000428675.1	+	6	3631	c.3233G>A	c.(3232-3234)cGc>cAc	p.R1078H	PLCL1_ENST00000437704.2_Missense_Mutation_p.R980H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1078					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAGAGCAAGCGCAGCCTGGAA	0.512													12	31					0	0	0	0	A	199011631	G	A	199011631	3	1	323	1	0	0	0	0	1	0	0	0	12111	1087	38	1	3255	1	PLCL1	2	199011631	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08	127951496	199011631	44187742	14	57455											
FZD7	8324	broad.mit.edu	37	chr2	202899737	202899737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcccgccgtgtcgttctCtgtgcgagcgcgcccgccag	3	8	12	18	7	1	0	0	0	1	0	4	1	2	0	5	0	2	1	5	0	0	1			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:202899737C>T	ENST00000286201.1	+	1	428	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	123	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GTGTCGTTCTCTGTGCGAGCG	0.642											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	65					0	0	0	0	T	202899737	C	T	202899737	2	4	323	1	0	0	0	0	0	0	0	1	6183	912	32	2		2	FZD7	2	202899737	Silent	SNP	C	TCGA-CV-7435-01A-11D-2129-08	3888106	202899737	40299636	15	57456											
C2orf57	165100	broad.mit.edu	37	chr2	232458286	232458286	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccccacaccctgaagctgaAgctttaccatctgatgagtc	10	9	8	14	0	1	4	0	4	1	0	2	4	1	4	4	0	3	2	4	0	3	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:232458286A>C	ENST00000313965.2	+	1	712	c.624A>C	c.(622-624)gaA>gaC	p.E208D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	208										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTGAAGCTGAAGCTTTACCAT	0.582													10	117					0	0	0	0	C	232458286	A	C	232458286	3	2	323	1	0	0	0	0	1	0	0	0	2198	69	3	5	626	5	C2orf57	2	232458286	Missense_Mutation	SNP	A	TCGA-CV-7435-01A-11D-2129-08	29558549	232458286	10741087	16	57457											
FBLN2	2199	broad.mit.edu	37	chr3	13611903	13611903	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcttgctctgggcctGgccctggccctgggccccag	1	8	15	17	0	1	0	0	0	1	0	1	0	1	0	6	5	1	2	6	5	0	1			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr3:13611903G>T	ENST00000404922.3	+	2	167	c.48G>T	c.(46-48)ctG>ctT	p.L16L	FBLN2_ENST00000492059.1_Silent_p.L16L|FBLN2_ENST00000295760.7_Silent_p.L16L|FBLN2_ENST00000535798.1_Silent_p.L42L	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	16						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTCTGGGCCTGGCCCTGGCCC	0.706													3	3					1.024e-07	1.12439e-07	1	0	T	13611903	G	T	13611903	2	4	323	1	0	0	0	0	0	0	0	1	5744	1335	47	4		4	FBLN2	3	13611903	Silent	SNP	G	TCGA-CV-7435-01A-11D-2129-08		13611903	184410527	17	57458											
ARL13B	200894	broad.mit.edu	37	chr3	93769695	93769695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaacccctaaagtcactaGacttccaaaacttgagcctc	13	8	7	13	0	1	2	1	1	0	1	3	3	2	3	4	1	3	0	4	1	6	4			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:93769695G>A	ENST00000535334.1	+	8	1383	c.860G>A	c.(859-861)aGa>aAa	p.R287K	ARL13B_ENST00000539730.1_Missense_Mutation_p.R111K|ARL13B_ENST00000471138.1_Missense_Mutation_p.R390K|ARL13B_ENST00000303097.7_Missense_Mutation_p.R283K|DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000394222.3_Missense_Mutation_p.R390K	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	390							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AAAGTCACTAGACTTCCAAAA	0.368													13	43					0	0	0	0	A	93769695	G	A	93769695	3	1	323	1	0	0	0	0	1	0	0	0	931	942	33	2	1203	2	ARL13B	3	93769695	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08	80157792	93769695	104252735	18	57459											
UROC1	131669	broad.mit.edu	37	chr3	126224562	126224562	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctctgctatcacaccgatGcaccccacgatgactgcggc	9	7	8	17	3	2	1	1	1	1	0	2	3	2	1	4	1	3	2	4	1	1	1			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:126224562G>A	ENST00000290868.2	-	8	848	c.795C>T	c.(793-795)tgC>tgT	p.C265C	UROC1_ENST00000383579.3_Silent_p.C265C	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	265					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TCACACCGATGCACCCCACGA	0.642													15	37					0	0	0	0	A	126224562	G	A	126224562	2	1	323	1	0	0	0	0	0	0	0	1	17124	1311	46	4		4	UROC1	3	126224562	Silent	SNP	G	TCGA-CV-7435-01A-11D-2129-08	32454867	126224562	71797868	19	57460											
PLSCR1	5359	broad.mit.edu	37	chr3	146246480	146246494	+	In_Frame_Del	DEL	ACTGGCTGATTATAT	ACTGGCTGATTATAT	-																															atggtacccctgcagctccaActggctgattatatactggc																								rs147509085	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:146246480_146246494delACTGGCTGATTATAT	ENST00000342435.4	-	4	629_643	c.219_233delATATAATCAGCCAGT	c.(217-234)gtt>gt	p.VYNQPV73del	PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_In_Frame_Del_p.VYNQPV66del|PLSCR1_ENST00000448787.2_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	73					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TGCAGCTCCAACTGGCTGATTATATACTGGCTGAT	0.521													9	124	---	---	---	---					-	146246494	ACTGGCTGATTATAT	-	146246480	7	5	323	1	0	1	0	1	0	0	0	0	12181	43	2	0	747	0	PLSCR1	3	146246480	In_Frame_Del	DEL	ACTGGCTGATTATAT	TCGA-CV-7435-01A-11D-2129-08	20021918	146246480	51775950	20	57461											
MED12L	116931	broad.mit.edu	37	chr3	150908705	150908705	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactattcaaaggaccatgAtgtgaaaatggaggtatggc	15	9	11	6	0	1	2	1	2	0	0	1	4	1	4	1	4	0	1	1	4	5	3			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:150908705A>T	ENST00000474524.1	+	13	1993	c.1955A>T	c.(1954-1956)gAt>gTt	p.D652V	MED12L_ENST00000273432.4_Missense_Mutation_p.D512V|MED12L_ENST00000422248.2_Missense_Mutation_p.D652V|MED12L_ENST00000309237.4_Missense_Mutation_p.D652V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	652					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGACCATGATGTGAAAATG	0.483													11	35					0	0	0	0	T	150908705	A	T	150908705	3	4	323	1	0	0	0	0	1	0	0	0	9498	333	12	5	2005	5	MED12L	3	150908705	Missense_Mutation	SNP	A	TCGA-CV-7435-01A-11D-2129-08	4662225	150908705	47113725	21	57462											
PLD1	5337	broad.mit.edu	37	chr3	171394576	171394576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccgtggactgcagaggCaatgtcatgccagggcatcc	8	8	12	13	1	1	1	1	0	0	1	3	2	3	2	3	3	2	3	3	3	1	1			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:171394576C>T	ENST00000356327.5	-	17	2000	c.1930G>A	c.(1930-1932)Gcc>Acc	p.A644T	PLD1_ENST00000340989.4_Missense_Mutation_p.A682T|PLD1_ENST00000351298.4_Missense_Mutation_p.A682T|PLD1_ENST00000342215.6_Silent_p.L572L	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	682	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTGCAGAGGCAATGTCATGC	0.527													13	78					0	0	0	0	T	171394576	C	T	171394576	3	4	323	1	0	0	0	0	1	0	0	0	12117	710	25	4	1220	4	PLD1	3	171394576	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	20485871	171394576	26627854	22	57463											
LRRC15	131578	broad.mit.edu	37	chr3	194081302	194081302	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtattccaggtggttgccGtgcaactgcagctccttgag	7	12	12	10	1	0	1	0	1	0	0	2	1	2	1	3	2	5	5	3	2	2	4	rs143343570	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:194081302G>A	ENST00000347624.3	-	2	556	c.471C>T	c.(469-471)caC>caT	p.H157H	LRRC15_ENST00000439944.2_Silent_p.H163H|LRRC15_ENST00000428839.1_Silent_p.H163H	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	157						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGTGGTTGCCGTGCAACTGCA	0.572													31	251					0	0	0	0	A	194081302	G	A	194081302	2	1	323	1	0	0	0	0	0	0	0	1	9034	1136	40	1		1	LRRC15	3	194081302	Silent	SNP	G	TCGA-CV-7435-01A-11D-2129-08	22686726	194081302	3941128	23	57464											
MAP9	79884	broad.mit.edu	37	chr4	156274418	156274418	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttttggcagctattttCtttgcttccttttctttcat	3	24	4	10	0	4	0	1	0	3	0	5	0	5	0	1	1	2	3	1	1	1	10			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr4:156274418C>A	ENST00000311277.4	-	11	1718	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N	AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000593387.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K461N	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	485					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAGCTATTTTCTTTGCTTCCT	0.353													10	53					1.76689e-08	1.97892e-08	1	0	A	156274418	C	A	156274418	3	1	323	1	0	0	0	0	1	0	0	0	9339	912	32	2	504	2	MAP9	4	156274418	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08		156274418	34879858	24	57465											
FAT1	2195	broad.mit.edu	37	chr4	187629852	187629853	+	Frame_Shift_Ins	INS	-	-	T																															gttgggaggagcaaattcacINSttatttctgctctgtaaaca																										TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr4:187629852_187629853insT	ENST00000441802.2	-	2	1338_1339	c.1129_1130insA	c.(1129-1131)tgafs	p.*377fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	377	Cadherin 3.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAAATTCACTTATTTCTGCT	0.431										HNSCC(5;0.00058)			36	50	---	---	---	---					T	187629853	-	T	187629852	7	5	323	1	0	1	1	0	0	0	0	0	5734	565	20	0	12740	0	FAT1	4	187629852	Frame_Shift_Ins	INS	-	TCGA-CV-7435-01A-11D-2129-08	31355434	187629852	3524424	25	57466											
APC	324	broad.mit.edu	37	chr5	112173816	112173816	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcaagaggaagcttagAtagttctcgttctgaaaaag	14	12	9	6	1	4	3	2	1	2	2	5	4	4	4	0	1	1	3	0	1	6	5			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:112173816A>T	ENST00000457016.1	+	16	2905	c.2525A>T	c.(2524-2526)gAt>gTt	p.D842V	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.D842V|APC_ENST00000508376.2_Missense_Mutation_p.D842V			P25054	APC_HUMAN	adenomatous polyposis coli	842	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGAAGCTTAGATAGTTCTCGT	0.403		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			17	43					0	0	0	0	T	112173816	A	T	112173816	3	4	323	1	0	0	0	0	1	0	0	0	764	333	12	5	2583	5	APC	5	112173816	Missense_Mutation	SNP	A	TCGA-CV-7435-01A-11D-2129-08		112173816	68741444	26	57467											
RAD50	10111	broad.mit.edu	37	chr5	131911505	131911505	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgagagcccagattcgtCtgcaatttcgtgatgtcaat	10	13	10	8	2	2	3	1	2	1	2	4	4	2	3	1	0	2	1	1	0	2	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:131911505C>T	ENST00000265335.6	+	3	637	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	84					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGATTCGTCTGCAATTTCG	0.378								Homologous recombination					12	46					0	0	0	0	T	131911505	C	T	131911505	2	4	323	1	0	0	0	0	0	0	0	1	13066	912	32	2		2	RAD50	5	131911505	Silent	SNP	C	TCGA-CV-7435-01A-11D-2129-08	19737689	131911505	49003755	27	57468											
PPP2R2B	5521	broad.mit.edu	37	chr5	146077680	146077680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgctgtaaacattgtattCacccctacgatgaacctgat	11	13	7	10	1	1	2	1	2	0	0	1	3	1	2	3	0	4	3	3	0	5	5			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:146077680C>T	ENST00000394413.3	-	3	766	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	PPP2R2B_ENST00000394410.2_Missense_Mutation_p.E55K|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.E66K|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.E124K|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.E66K|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.E132K|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.E55K|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.E69K|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.E66K|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.E72K			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	66					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATTGTATTCACCCCTACGA	0.373													33	52					0	0	0	0	T	146077680	C	T	146077680	3	4	323	1	0	0	0	0	1	0	0	0	12461	835	29	2	1163	2	PPP2R2B	5	146077680	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	14166175	146077680	34837580	28	57469											
WWC1	23286	broad.mit.edu	37	chr5	167812359	167812359	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgcctggagcttgcaCagcaggagtaccagcaactg	11	5	13	12	1	0	0	0	0	0	0	0	2	0	2	2	2	8	6	2	2	2	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:167812359C>T	ENST00000265293.4	+	3	875	c.373C>T	c.(373-375)Cag>Tag	p.Q125*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.Q125*	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	125					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGAGCTTGCACAGCAGGAGTA	0.587													16	31					0	0	0	0	T	167812359	C	T	167812359	4	4	323	1	0	0	0	0	0	1	0	0	17507	479	17	4	383	4	WWC1	5	167812359	Nonsense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	21734679	167812359	13102901	29	57470											
HIST1H4E	8367	broad.mit.edu	37	chr6	26205057	26205057	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcggggttctgaaggtgtTtctggaaaacgtgattcgtg	7	13	15	6	4	2	2	0	2	2	0	4	3	2	3	0	4	1	2	0	4	3	3			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:26205057T>G	ENST00000360441.4	+	1	200	c.185T>G	c.(184-186)tTt>tGt	p.F62C		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	62					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CTGAAGGTGTTTCTGGAAAAC	0.567													13	88					0	0	0	0	G	26205057	T	G	26205057	3	3	323	1	0	0	0	0	1	0	0	0	7219	1841	64	5	187	5	HIST1H4E	6	26205057	Missense_Mutation	SNP	T	TCGA-CV-7435-01A-11D-2129-08		26205057	144910010	30	57471											
FAM83B	222584	broad.mit.edu	37	chr6	54804590	54804590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctttgatgaagaatttaGaactctctatgccagatcct	11	14	7	9	0	1	5	0	2	1	3	4	5	3	5	3	0	2	0	3	0	5	4			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:54804590G>A	ENST00000306858.7	+	5	937	c.821G>A	c.(820-822)aGa>aAa	p.R274K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	274										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAGAATTTAGAACTCTCTAT	0.423													11	60					0	0	0	0	A	54804590	G	A	54804590	3	1	323	1	0	0	0	0	1	0	0	0	5680	942	33	2	835	2	FAM83B	6	54804590	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08	28599533	54804590	116310477	31	57472											
MDN1	23195	broad.mit.edu	37	chr6	90497660	90497660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctccattctccaagagaGggatcagcacagaaacctaa	14	7	8	12	0	3	2	1	0	2	2	5	4	3	3	3	1	2	2	3	1	3	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:90497660G>A	ENST00000369393.3	-	8	1362	c.1247C>T	c.(1246-1248)cCt>cTt	p.P416L	MDN1_ENST00000428876.1_Missense_Mutation_p.P416L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	416					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCCAAGAGAGGGATCAGCAC	0.408													25	36					0	0	0	0	A	90497660	G	A	90497660	3	1	323	1	0	0	0	0	1	0	0	0	9484	1000	35	4	15923	4	MDN1	6	90497660	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08	35693070	90497660	80617407	32	57473											
GTF3C6	112495	broad.mit.edu	37	chr6	111288940	111288941	+	Frame_Shift_Ins	INS	-	-	T																															ttctggtcctcttattgataINStaccttctgagacagaaggt																								rs41289884	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:111288940_111288941insT	ENST00000329970.7	+	6	799_800	c.589_590insT	c.(589-591)accfs	p.T197fs	GTF3C6_ENST00000480191.1_3'UTR	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	197						transcription factor TFIIIC complex	DNA binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TCTTATTGATATACCTTCTGAG	0.371													35	78	---	---	---	---					T	111288941	-	T	111288940	7	5	323	1	0	1	1	0	0	0	0	0	6927	449	16	0	611	0	GTF3C6	6	111288940	Frame_Shift_Ins	INS	-	TCGA-CV-7435-01A-11D-2129-08	20791280	111288940	59826127	33	57474											
MIOS	54468	broad.mit.edu	37	chr7	7636027	7636027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaagttgtcctggctgtcGaaaaccacttcctcgatgtg	9	11	9	12	2	0	0	0	0	0	0	4	2	2	0	3	1	1	2	3	1	3	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:7636027G>A	ENST00000340080.4	+	11	2757	c.2336G>A	c.(2335-2337)cGa>cAa	p.R779Q	MIOS_ENST00000405785.1_Missense_Mutation_p.R779Q	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	779										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTGGCTGTCGAAAACCACTT	0.428													11	154					0	0	0	0	A	7636027	G	A	7636027	3	1	323	1	0	0	0	0	1	0	0	0	9658	1058	37	1	2366	1	MIOS	7	7636027	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08		7636027	151502636	34	57475											
SEMA3C	10512	broad.mit.edu	37	chr7	80435066	80435066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatatacattccagagaaaaGctcctcatctatgaaaaaga	18	10	5	8	0	2	3	1	1	1	2	4	4	4	3	2	0	2	1	2	0	8	5			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:80435066G>A	ENST00000265361.3	-	7	1108	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F	SEMA3C_ENST00000419255.2_Missense_Mutation_p.L183F|SEMA3C_ENST00000536800.1_Missense_Mutation_p.L35F|SEMA3C_ENST00000544525.1_Missense_Mutation_p.L201F	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	183	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCAGAGAAAAGCTCCTCATCT	0.323													17	34					0	0	0	0	A	80435066	G	A	80435066	3	1	323	1	0	0	0	0	1	0	0	0	14113	971	34	4	1756	4	SEMA3C	7	80435066	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08	72799039	80435066	78703597	35	57476											
PCLO	27445	broad.mit.edu	37	chr7	82387992	82387992	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcttcaccaatcaaggTctttttcataaacttccctc	11	13	4	13	0	4	0	3	0	1	0	6	0	5	0	2	2	1	1	2	2	4	5			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:82387992T>G	ENST00000333891.8	-	25	15665	c.15328A>C	c.(15328-15330)Acc>Ccc	p.T5110P		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5033					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCAATCAAGGTCTTTTTCATA	0.333													32	107					0	0	0	0	G	82387992	T	G	82387992	3	3	323	1	0	0	0	0	1	0	0	0	11654	1667	58	5	104	5	PCLO	7	82387992	Missense_Mutation	SNP	T	TCGA-CV-7435-01A-11D-2129-08	1952926	82387992	76750671	36	57477											
PODXL	5420	broad.mit.edu	37	chr7	131194197	131194197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttgatgctgctgtggggCtggagctcatggtctctggc	4	13	16	8	0	2	1	1	1	1	0	3	2	2	2	0	5	3	5	0	5	1	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:131194197C>T	ENST00000541194.1	-	4	1213	c.956G>A	c.(955-957)aGc>aAc	p.S319N	PODXL_ENST00000322985.9_Missense_Mutation_p.S285N|PODXL_ENST00000537928.1_Missense_Mutation_p.S285N|PODXL_ENST00000378555.3_Missense_Mutation_p.S317N	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	317	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGCTGTGGGGCTGGAGCTCAT	0.602													45	85					0	0	0	0	T	131194197	C	T	131194197	3	4	323	1	0	0	0	0	1	0	0	0	12252	797	28	4	750	4	PODXL	7	131194197	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	48806205	131194197	27944466	37	57478											
LONRF1	91694	broad.mit.edu	37	chr8	12586780	12586780	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttggctcaaatacatggaGagggcaaggcacagtggggt	11	8	15	7	0	2	1	1	0	1	1	2	2	2	1	0	6	1	3	0	6	3	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr8:12586780G>C	ENST00000398246.3	-	9	1819	c.1750C>G	c.(1750-1752)Ctc>Gtc	p.L584V	LONRF1_ENST00000525024.1_Missense_Mutation_p.L10V|LONRF1_ENST00000533751.1_Missense_Mutation_p.L227V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	584	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		AATACATGGAGAGGGCAAGGC	0.388													19	59					0	0	0	0	C	12586780	G	C	12586780	3	2	323	1	0	0	0	0	1	0	0	0	8958	942	33	2	587	2	LONRF1	8	12586780	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08		12586780	133777242	38	57479											
PURG	29942	broad.mit.edu	37	chr8	30890027	30890027	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccggcctctccctatcCagacttcggctatctttagg	5	12	8	16	2	2	1	0	0	2	1	5	1	3	1	5	3	1	1	5	3	3	5			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr8:30890027C>T	ENST00000475541.1	-	1	1204	c.272G>A	c.(271-273)tGg>tAg	p.W91*	PURG_ENST00000339382.2_Nonsense_Mutation_p.W91*	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	91						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TCTCCCTATCCAGACTTCGGC	0.547													21	36					0	0	0	0	T	30890027	C	T	30890027	4	4	323	1	0	0	0	0	0	1	0	0	12911	595	21	4	884	4	PURG	8	30890027	Nonsense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	18303247	30890027	115473995	39	57480											
EIF3H	8667	broad.mit.edu	37	chr8	117671059	117671059	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcctactaaccataaatGagaacgacagattcttcaat	16	10	4	11	1	2	2	1	1	1	2	3	4	3	2	3	0	3	0	3	0	6	5			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr8:117671059G>A	ENST00000521861.1	-	3	473	c.450C>T	c.(448-450)ctC>ctT	p.L150L	EIF3H_ENST00000276682.4_Silent_p.L164L	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	150					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					AACCATAAATGAGAACGACAG	0.413													24	107					0	0	0	0	A	117671059	G	A	117671059	2	1	323	1	0	0	0	0	0	0	0	1	5056	1277	45	2		2	EIF3H	8	117671059	Silent	SNP	G	TCGA-CV-7435-01A-11D-2129-08	86781032	117671059	28692963	40	57481											
PIP5K1B	8395	broad.mit.edu	37	chr9	71503904	71503904	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacccttttagtattccaTctgcagtgaacctctaatag	10	16	5	10	0	2	1	0	1	2	0	3	1	3	1	3	0	3	2	3	0	6	8			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:71503904T>A	ENST00000265382.3	+	7	631	c.326T>A	c.(325-327)aTc>aAc	p.I109N	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.I109N	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	109	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TAGTATTCCATCTGCAGTGAA	0.383													41	68					0	0	0	0	A	71503904	T	A	71503904	3	1	323	1	0	0	0	0	1	0	0	0	12012	1435	50	5	340	5	PIP5K1B	9	71503904	Missense_Mutation	SNP	T	TCGA-CV-7435-01A-11D-2129-08		71503904	69709527	41	57482											
AGTPBP1	23287	broad.mit.edu	37	chr9	88293287	88293287	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaagaatgcttaagatattAagtgtagtttgaagatcttt	15	15	8	3	0	1	4	0	1	1	3	1	4	1	4	0	0	1	3	0	0	7	6			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:88293287A>T	ENST00000357081.3	-	5	396	c.252T>A	c.(250-252)ctT>ctA	p.L84L	AGTPBP1_ENST00000376080.1_Silent_p.L26L|AGTPBP1_ENST00000376109.3_Silent_p.L136L|AGTPBP1_ENST00000432218.1_5'UTR|AGTPBP1_ENST00000491784.1_Intron|AGTPBP1_ENST00000376083.3_Silent_p.L84L|AGTPBP1_ENST00000376081.4_Silent_p.L84L|AGTPBP1_ENST00000337006.4_Silent_p.L26L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	84					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTAAGATATTAAGTGTAGTTT	0.308													4	15					0	0	0	0	T	88293287	A	T	88293287	2	4	323	1	0	0	0	0	0	0	0	1	400	349	13	5		5	AGTPBP1	9	88293287	Silent	SNP	A	TCGA-CV-7435-01A-11D-2129-08	16789383	88293287	52920144	42	57483											
C9orf156	51531	broad.mit.edu	37	chr9	100672670	100672670	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtttcctcttagtgctaTggtggggttgtggctcatca	5	16	13	7	0	3	0	2	0	1	0	4	0	4	0	1	5	1	4	1	5	3	5			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:100672670T>C	ENST00000375119.3	-	4	714	c.638A>G	c.(637-639)cAt>cGt	p.H213R	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	213					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				CTTAGTGCTATGGTGGGGTTG	0.473													17	42					0	0	0	0	C	100672670	T	C	100672670	3	2	323	1	0	0	0	0	1	0	0	0	2490	1464	51	5	695	5	C9orf156	9	100672670	Missense_Mutation	SNP	T	TCGA-CV-7435-01A-11D-2129-08	12379383	100672670	40540761	43	57484											
ODF2	4957	broad.mit.edu	37	chr9	131221864	131221864	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtttccatcgtgtgggaaGaacggagtaacgagtctcac	11	9	13	8	3	1	1	1	0	1	1	4	4	2	3	1	3	2	2	1	3	3	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:131221864G>A	ENST00000434106.2	+	3	414	c.51G>A	c.(49-51)aaG>aaA	p.K17K	ODF2_ENST00000393533.2_Silent_p.K17K|ODF2_ENST00000303890.5_5'UTR|ODF2_ENST00000448249.3_5'UTR|ODF2_ENST00000351030.3_5'UTR|ODF2_ENST00000546203.1_Silent_p.K17K|ODF2_ENST00000372796.4_Silent_p.K17K|ODF2_ENST00000372814.3_Silent_p.K61K|ODF2_ENST00000535026.1_5'UTR|ODF2_ENST00000372791.3_Silent_p.K17K	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	17					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CGTGTGGGAAGAACGGAGTAA	0.483													9	13					0	0	0	0	A	131221864	G	A	131221864	2	1	323	1	0	0	0	0	0	0	0	1	10898	933	33	2		2	ODF2	9	131221864	Silent	SNP	G	TCGA-CV-7435-01A-11D-2129-08	30549194	131221864	9991567	44	57485											
PCDH15	65217	broad.mit.edu	37	chr10	55955480	55955480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagctactattcttaaaGgtgaagtcaaattgagactg	14	11	9	7	0	2	3	1	2	1	2	2	4	2	3	1	1	2	1	1	1	6	5			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:55955480G>T	ENST00000373965.2	-	11	1662	c.1268C>A	c.(1267-1269)cCt>cAt	p.P423H	PCDH15_ENST00000320301.6_Missense_Mutation_p.P423H|PCDH15_ENST00000373957.3_Missense_Mutation_p.P401H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P423H|PCDH15_ENST00000409834.1_Missense_Mutation_p.P27H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P423H|PCDH15_ENST00000395438.1_Missense_Mutation_p.P423H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P401H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P386H|PCDH15_ENST00000373955.1_Missense_Mutation_p.P423H|PCDH15_ENST00000395440.1_Missense_Mutation_p.P423H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P428H|PCDH15_ENST00000395446.1_Missense_Mutation_p.P423H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P423H|PCDH15_ENST00000395430.1_Missense_Mutation_p.P423H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	423	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TATTCTTAAAGGTGAAGTCAA	0.368										HNSCC(58;0.16)			10	108					4.68919e-08	5.19989e-08	1	0	T	55955480	G	T	55955480	3	4	323	1	0	0	0	0	1	0	0	0	11582	1000	35	4	6335	4	PCDH15	10	55955480	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08		55955480	79579267	45	57486											
ZNF365	22891	broad.mit.edu	37	chr10	64148197	64148197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctggaagcggcagctgaGaaggaggttcaagggaaagc	12	6	16	7	1	1	1	1	1	0	1	2	5	2	4	1	5	3	3	1	5	4	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:64148197G>A	ENST00000395254.3	+	3	1066	c.786G>A	c.(784-786)gaG>gaA	p.E262E	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Silent_p.E262E|ZNF365_ENST00000410046.3_Silent_p.E262E	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGGCAGCTGAGAAGGAGGTTC	0.473													7	57					0	0	0	0	A	64148197	G	A	64148197	2	1	323	1	0	0	0	0	0	0	0	1	17964	933	33	2		2	ZNF365	10	64148197	Silent	SNP	G	TCGA-CV-7435-01A-11D-2129-08	8192717	64148197	71386550	46	57487											
TET1	80312	broad.mit.edu	37	chr10	70333405	70333405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttccttcctgttcctcCaaatccaattgctaccttta	7	17	3	14	0	1	0	0	0	1	0	6	0	6	0	6	0	2	2	6	0	4	7			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:70333405C>T	ENST00000373644.4	+	2	1519	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	437					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCTGTTCCTCCAAATCCAATT	0.468													27	102					0	0	0	0	T	70333405	C	T	70333405	3	4	323	1	0	0	0	0	1	0	0	0	15863	594	21	4	1312	4	TET1	10	70333405	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	6185208	70333405	65201342	47	57488											
AVPI1	60370	broad.mit.edu	37	chr10	99437758	99437758	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcactctgtgggttggcCagtgcagagtggggctccag	5	9	18	9	0	1	1	0	0	1	1	2	1	2	1	2	5	1	4	2	5	0	1			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:99437758C>T	ENST00000370626.3	-	3	879	c.312G>A	c.(310-312)ctG>ctA	p.L104L		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	104					cell cycle					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		GTGGGTTGGCCAGTGCAGAGT	0.522													26	62					0	0	0	0	T	99437758	C	T	99437758	2	4	323	1	0	0	0	0	0	0	0	1	1234	581	21	4		4	AVPI1	10	99437758	Silent	SNP	C	TCGA-CV-7435-01A-11D-2129-08	29104353	99437758	36096989	48	57489											
C10orf90	118611	broad.mit.edu	37	chr10	128191398	128191398	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttatgttgtccttcttgtaAtaagtctgtaagacatgcat	10	17	7	7	0	2	1	0	0	2	1	3	1	3	1	1	0	1	4	1	0	4	7			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:128191398A>G	ENST00000392694.1	-	4	1369	c.1108T>C	c.(1108-1110)Tta>Cta	p.L370L	C10orf90_ENST00000544758.1_Intron|C10orf90_ENST00000356858.3_Intron|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000284694.7_Intron			Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	0										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CCTTCTTGTAATAAGTCTGTA	0.333													27	92					0	0	0	0	G	128191398	A	G	128191398	2	3	323	1	0	0	0	0	0	0	0	1	1633	116	4	5		5	C10orf90	10	128191398	Silent	SNP	A	TCGA-CV-7435-01A-11D-2129-08	28753640	128191398	7343349	49	57490											
LUZP2	338645	broad.mit.edu	37	chr11	24750809	24750809	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagacatcaagagaacttGatggaattaaagtcaatctt	18	10	7	6	0	3	3	2	1	1	2	3	5	3	4	0	1	1	0	0	1	7	3			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr11:24750809G>A	ENST00000533227.1	+	0	186				LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000336930.6_Missense_Mutation_p.D53N	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2							extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAGAGAACTTGATGGAATTAA	0.403													4	62					0	0	0	0	A	24750809	G	A	24750809	1	1	323	1	0	0	0	0	0	0	0	0	9151	1290	45	2		2	LUZP2	11	24750809	Translation_Start_Site	SNP	G	TCGA-CV-7435-01A-11D-2129-08		24750809	110255707	50	57491											
DCDC1	341019	broad.mit.edu	37	chr11	31113007	31113007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccttgactctgataggatGaccaatagccaggcagccct	11	8	10	12	0	1	3	0	3	1	0	1	4	1	4	4	2	3	1	4	2	3	3			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr11:31113007G>A	ENST00000597505.1	-	15	2169	c.2170C>T	c.(2170-2172)Cat>Tat	p.H724Y	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTGATAGGATGACCAATAGCC	0.393													3	11					0	0	0	0	A	31113007	G	A	31113007	3	1	323	1	0	0	0	0	1	0	0	0	4316	1305	45	2		2	DCDC1	11	31113007	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08	6362198	31113007	103893509	51	57492											
LGALS12	85329	broad.mit.edu	37	chr11	63276452	63276452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctctttctcttcgggaatGaggaagtgaaggtgaaggaa	11	11	13	6	1	2	3	0	3	2	0	5	6	3	6	1	4	0	0	1	4	5	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr11:63276452G>A	ENST00000415491.2	+	2	858	c.244G>A	c.(244-246)Gag>Aag	p.E82K	LGALS12_ENST00000425950.2_Missense_Mutation_p.E82K|LGALS12_ENST00000394618.3_Missense_Mutation_p.E143K|LGALS12_ENST00000255684.5_Missense_Mutation_p.E143K|LGALS12_ENST00000340246.5_Missense_Mutation_p.E144K	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	143	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTTCGGGAATGAGGAAGTGAA	0.592													10	27					0	0	0	0	A	63276452	G	A	63276452	3	1	323	1	0	0	0	0	1	0	0	0	8792	1291	45	2	440	2	LGALS12	11	63276452	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08	32163445	63276452	71730064	52	57493											
SLC29A2	3177	broad.mit.edu	37	chr11	66134014	66134014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagctactttctggggaCtactgggaatcccgttctca	8	12	10	11	1	3	1	2	0	2	1	5	3	4	3	1	3	3	2	1	3	3	4			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr11:66134014C>T	ENST00000357440.2	-	8	983	c.755G>A	c.(754-756)aGt>aAt	p.S252N	SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000544554.1_Missense_Mutation_p.S252N|SLC29A2_ENST00000546034.1_Missense_Mutation_p.S252N	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	252					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						TTTCTGGGGACTACTGGGAAT	0.577													7	52					0	0	0	0	T	66134014	C	T	66134014	3	4	323	1	0	0	0	0	1	0	0	0	14623	565	20	4	635	4	SLC29A2	11	66134014	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	2857562	66134014	68872502	53	57494											
GRM5	2915	broad.mit.edu	37	chr11	88242175	88242175	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacagcatcatggagttgAgctcgctgatgttggccgtg	7	11	15	8	2	1	2	1	2	0	0	2	4	1	4	1	3	2	5	1	3	0	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr11:88242175A>T	ENST00000418177.2	-	10	3591	c.3224T>A	c.(3223-3225)cTc>cAc	p.L1075H	GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000455756.2_Missense_Mutation_p.L1043H|GRM5_ENST00000305432.5_Missense_Mutation_p.L1043H|GRM5_ENST00000305447.4_Missense_Mutation_p.L1075H|GRM5_ENST00000393297.1_Intron			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1075					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CATGGAGTTGAGCTCGCTGAT	0.667													3	7					0	0	0	0	T	88242175	A	T	88242175	3	4	323	1	0	0	0	0	1	0	0	0	6850	304	11	5	418	5	GRM5	11	88242175	Missense_Mutation	SNP	A	TCGA-CV-7435-01A-11D-2129-08	22108161	88242175	46764341	54	57495											
PPFIBP1	8496	broad.mit.edu	37	chr12	27829391	27829391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcagaaagcaggccatttGggacccttcctcccaggccc	8	6	11	16	1	0	1	0	0	0	1	2	2	2	2	5	4	1	2	5	4	1	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:27829391G>T	ENST00000318304.8	+	18	1775	c.1492G>T	c.(1492-1494)Ggg>Tgg	p.G498W	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G481W|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G345W|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G467W	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	498					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGGCCATTTGGGACCCTTCC	0.552													11	227					7.03913e-09	7.96346e-09	1	0	T	27829391	G	T	27829391	3	4	323	1	0	0	0	0	1	0	0	0	12384	1348	47	4	1545	4	PPFIBP1	12	27829391	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08		27829391	106022504	55	57496											
SENP1	29843	broad.mit.edu	37	chr12	48468185	48468185	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgatggggatgatgaagagTaccagaatctttggatccaa	14	10	12	5	0	1	5	0	3	1	2	2	7	2	7	2	3	1	1	2	3	4	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:48468185T>C	ENST00000004980.5	-	8	1340	c.862A>G	c.(862-864)Act>Gct	p.T288A	SENP1_ENST00000549518.1_Missense_Mutation_p.T288A|SENP1_ENST00000551330.1_Missense_Mutation_p.T288A|SENP1_ENST00000549595.1_Missense_Mutation_p.T288A|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.T288A			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	288					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGATGAAGAGTACCAGAATCT	0.408													18	98					0	0	0	0	C	48468185	T	C	48468185	3	2	323	1	0	0	0	0	1	0	0	0	14133	1638	57	5	1113	5	SENP1	12	48468185	Missense_Mutation	SNP	T	TCGA-CV-7435-01A-11D-2129-08	20638794	48468185	85383710	56	57497											
AQP6	363	broad.mit.edu	37	chr12	50367087	50367087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgttctttggcgtgggctCagtcatgcgctggcccacag	4	12	14	11	2	3	0	2	0	1	0	3	0	3	0	1	3	1	3	1	3	0	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:50367087C>T	ENST00000315520.5	+	1	468	c.131C>T	c.(130-132)tCa>tTa	p.S44L	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	44					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GGCGTGGGCTCAGTCATGCGC	0.607													23	80					0	0	0	0	T	50367087	C	T	50367087	3	4	323	1	0	0	0	0	1	0	0	0	832	838	29	2	133	2	AQP6	12	50367087	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	1898902	50367087	83484808	57	57498											
BBS10	79738	broad.mit.edu	37	chr12	76741323	76741323	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaaagtgtctacttaggtActggtccataataccgtcta	13	12	7	9	1	2	0	0	0	2	0	3	0	3	0	2	2	3	1	2	2	8	6			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:76741323A>T	ENST00000393262.3	-	2	525	c.442T>A	c.(442-444)Tac>Aac	p.Y148N		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	148					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTACTTAGGTACTGGTCCATA	0.393									Bardet-Biedl syndrome				11	65					0	0	0	0	T	76741323	A	T	76741323	3	4	323	1	0	0	0	0	1	0	0	0	1340	391	14	5	1733	5	BBS10	12	76741323	Missense_Mutation	SNP	A	TCGA-CV-7435-01A-11D-2129-08	26374236	76741323	57110572	58	57499											
HAL	3034	broad.mit.edu	37	chr12	96377733	96377733	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtggtaatgatgttctTcacaaatgctattgtatcat	10	18	7	6	0	4	1	2	1	2	0	4	1	4	1	0	1	1	4	0	1	4	7			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:96377733T>C	ENST00000261208.3	-	15	1611	c.1243A>G	c.(1243-1245)Aag>Gag	p.K415E	HAL_ENST00000541929.1_Missense_Mutation_p.K207E|HAL_ENST00000538703.1_Missense_Mutation_p.K415E	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	415					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ATGATGTTCTTCACAAATGCT	0.338													21	39					0	0	0	0	C	96377733	T	C	96377733	3	2	323	1	0	0	0	0	1	0	0	0	6997	1792	62	5	758	5	HAL	12	96377733	Missense_Mutation	SNP	T	TCGA-CV-7435-01A-11D-2129-08	19636410	96377733	37474162	59	57500											
DHRS1	115817	broad.mit.edu	37	chr14	24760813	24760813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattctgtggtttccgcagAtgagaaggctgatttgaact	10	13	11	7	1	1	4	0	3	1	2	2	5	2	4	1	2	1	3	1	2	3	3			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr14:24760813A>G	ENST00000288111.7	-	7	949	c.673T>C	c.(673-675)Tct>Cct	p.S225P	DHRS1_ENST00000396813.1_Missense_Mutation_p.S225P|DHRS1_ENST00000559088.1_5'UTR	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	225						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		GTTTCCGCAGATGAGAAGGCT	0.488													34	218					0	0	0	0	G	24760813	A	G	24760813	3	3	323	1	0	0	0	0	1	0	0	0	4523	333	12	5	280	5	DHRS1	14	24760813	Missense_Mutation	SNP	A	TCGA-CV-7435-01A-11D-2129-08		24760813	82588727	60	57501											
SYT16	83851	broad.mit.edu	37	chr14	62567240	62567240	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttccaggtggccctctttCagctgtctgatgtcacgttg	4	16	10	11	1	4	1	2	1	2	0	5	1	5	1	2	2	1	2	2	2	0	4			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr14:62567240C>T	ENST00000430451.2	+	6	1950	c.1753C>T	c.(1753-1755)Cag>Tag	p.Q585*		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	585	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGCCCTCTTTCAGCTGTCTGA	0.502													15	31					0	0	0	0	T	62567240	C	T	62567240	4	4	323	1	0	0	0	0	0	1	0	0	15563	827	29	2	1775	2	SYT16	14	62567240	Nonsense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	37806427	62567240	44782300	61	57502											
SYNE2	23224	broad.mit.edu	37	chr14	64496627	64496627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttaggattctgtgcaaaaCttggacggtcacgttcgaga	10	13	11	7	3	2	1	1	0	1	1	3	4	2	3	0	3	2	2	0	3	3	5			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr14:64496627C>G	ENST00000358025.3	+	44	6959	c.6729C>G	c.(6727-6729)aaC>aaG	p.N2243K	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.N2243K|SYNE2_ENST00000554584.1_Missense_Mutation_p.N2243K	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2243					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGTGCAAAACTTGGACGGTC	0.338													5	25					0	0	0	0	G	64496627	C	G	64496627	3	3	323	1	0	0	0	0	1	0	0	0	15537	564	20	4	6899	4	SYNE2	14	64496627	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	1929387	64496627	42852913	62	57503											
MTFMT	123263	broad.mit.edu	37	chr15	65313852	65313852	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatattggggaattatacCatgttggcacccagtcttga	11	12	11	7	0	1	1	0	1	1	0	1	3	1	3	2	4	1	2	2	4	4	6			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr15:65313852C>A	ENST00000220058.4	-	4	658	c.645_splice	c.e4+1	p.M215_splice	MTFMT_ENST00000561025.1_5'UTR	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	215						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	GGAATTATACCATGTTGGCAC	0.383													20	50					1.01871e-10	1.17625e-10	1	0	A	65313852	C	A	65313852	5	1	323	1	0	0	0	0	0	0	1	0	9994	608	21	4	548	4	MTFMT	15	65313852	Splice_Site	SNP	C	TCGA-CV-7435-01A-11D-2129-08		65313852	37217540	63	57504											
RGS11	8786	broad.mit.edu	37	chr16	321023	321023	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtccatgaagtgggcccgCcccacggggtcctccaggag	8	5	14	14	2	0	1	0	1	0	0	3	2	3	2	6	4	0	0	6	4	2	0			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:321023C>A	ENST00000397770.3	-	13	956	c.939G>T	c.(937-939)ggG>ggT	p.G313G	RGS11_ENST00000359740.5_Silent_p.G302G|RGS11_ENST00000316163.5_Silent_p.G292G|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	313	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				AGTGGGCCCGCCCCACGGGGT	0.682													3	36					0.00024832	0.000262376	1	0	A	321023	C	A	321023	2	1	323	1	0	0	0	0	0	0	0	1	13377	726	26	4		4	RGS11	16	321023	Silent	SNP	C	TCGA-CV-7435-01A-11D-2129-08		321023	90033730	64	57505											
SRRM2	23524	broad.mit.edu	37	chr16	2812431	2812431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgatcaccagtacgacgcagGtctcgtagtagatcaccagc	11	7	10	13	4	3	1	2	0	1	1	4	3	3	1	2	1	2	4	2	1	3	3			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:2812431G>T	ENST00000301740.8	+	11	2451	c.1902G>T	c.(1900-1902)agG>agT	p.R634S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	634	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TACGACGCAGGTCTCGTAGTA	0.622													22	80					3.5997e-14	4.19965e-14	1	0	T	2812431	G	T	2812431	3	4	323	1	0	0	0	0	1	0	0	0	15259	1252	44	4	1940	4	SRRM2	16	2812431	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08	2491408	2812431	87542322	65	57506											
ACSM2A	123876	broad.mit.edu	37	chr16	20480920	20480920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaggccaaggctattgttGctggggatgaagtcatccaa	11	10	12	8	0	1	1	1	1	0	0	2	2	2	2	2	4	1	3	2	4	5	4			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:20480920G>T	ENST00000573854.1	+	4	589	c.475G>T	c.(475-477)Gct>Tct	p.A159S	ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A159S|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A80S|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A159S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A159S|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A159S|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	159					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCTATTGTTGCTGGGGATGA	0.458													52	128					2.76378e-25	3.25836e-25	1	0	T	20480920	G	T	20480920	3	4	323	1	0	0	0	0	1	0	0	0	183	1319	46	4	485	4	ACSM2A	16	20480920	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08	17668489	20480920	69873833	66	57507											
DNAH3	55567	broad.mit.edu	37	chr16	21069448	21069448	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgggacacctcctgggTccaaaagatggaggagacac	11	6	14	10	0	0	2	0	0	0	2	2	5	2	4	3	5	0	1	3	5	2	1			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:21069448T>A	ENST00000261383.3	-	27	3882	c.3883A>T	c.(3883-3885)Acc>Tcc	p.T1295S	DNAH3_ENST00000415178.1_Missense_Mutation_p.T1295S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1295	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCTCCTGGGTCCAAAAGATG	0.478													16	36					0	0	0	0	A	21069448	T	A	21069448	3	1	323	1	0	0	0	0	1	0	0	0	4640	1667	58	5	8610	5	DNAH3	16	21069448	Missense_Mutation	SNP	T	TCGA-CV-7435-01A-11D-2129-08	588528	21069448	69285305	67	57508											
GTF3C1	2975	broad.mit.edu	37	chr16	27476027	27476027	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctggcctgggggtcttctCtctggatgtcggcgtcttct	1	15	14	11	2	6	0	0	0	6	0	8	1	6	1	1	5	0	0	1	5	0	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:27476027C>G	ENST00000356183.4	-	34	5501	c.5486G>C	c.(5485-5487)aGa>aCa	p.R1829T	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1829T	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1829						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGGTCTTCTCTCTGGATGTC	0.672													17	69					0	0	0	0	G	27476027	C	G	27476027	3	3	323	1	0	0	0	0	1	0	0	0	6922	913	32	2	859	2	GTF3C1	16	27476027	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	6406579	27476027	62878726	68	57509											
CNOT1	23019	broad.mit.edu	37	chr16	58592411	58592411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtcctccaataccactGaatgcagtggtctgattggg	11	10	11	9	0	1	2	0	2	1	0	3	3	3	2	3	2	2	1	3	2	4	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:58592411G>T	ENST00000317147.5	-	18	2630	c.2298C>A	c.(2296-2298)ttC>ttA	p.F766L	CNOT1_ENST00000441024.2_Missense_Mutation_p.F766L|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.F766L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	766					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAATACCACTGAATGCAGTGG	0.463													10	35					6.40141e-05	6.89383e-05	1	0	T	58592411	G	T	58592411	3	4	323	1	0	0	0	0	1	0	0	0	3647	1281	45	2	5182	2	CNOT1	16	58592411	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08	31116384	58592411	31762342	69	57510											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	20					0	0	0	0	C	7578190	T	C	7578190	3	2	323	1	0	0	0	0	1	0	0	0	16476	1406	49	5	635	5	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-CV-7435-01A-11D-2129-08		7578190	73617020	70	57511											
DNAH2	146754	broad.mit.edu	37	chr17	7734767	7734767	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaaatgatcgactatgagggGactcaaaaactgctagctct	14	9	10	8	1	2	2	1	2	1	0	3	5	2	3	0	2	3	2	0	2	5	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:7734767G>C	ENST00000572933.1	+	81	13979	c.12519G>C	c.(12517-12519)ggG>ggC	p.G4173G	DNAH2_ENST00000389173.2_Silent_p.G4173G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4173					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTATGAGGGGACTCAAAAAC	0.527													12	37					0	0	0	0	C	7734767	G	C	7734767	2	2	323	1	0	0	0	0	0	0	0	1	4639	1161	41	2		2	DNAH2	17	7734767	Silent	SNP	G	TCGA-CV-7435-01A-11D-2129-08	156577	7734767	73460443	71	57512											
RNF135	84282	broad.mit.edu	37	chr17	29326075	29326075	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaggagggaaagcttgccTtctattcagtggacaatcag	11	11	12	7	0	3	1	2	1	1	0	3	4	3	4	1	3	2	1	1	3	3	5			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:29326075T>C	ENST00000328381.5	+	5	2038	c.1165T>C	c.(1165-1167)Ttc>Ctc	p.F389L	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	389	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				AAAGCTTGCCTTCTATTCAGT	0.532													25	71					0	0	0	0	C	29326075	T	C	29326075	3	2	323	1	0	0	0	0	1	0	0	0	13525	1609	56	5	1252	5	RNF135	17	29326075	Missense_Mutation	SNP	T	TCGA-CV-7435-01A-11D-2129-08	21591308	29326075	51869135	72	57513											
MED13	9969	broad.mit.edu	37	chr17	60032881	60032881	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttagctgagatgtctgcaTatttagagtcgtgcttcttc	8	17	9	7	1	2	2	0	1	2	2	4	3	2	2	0	0	3	3	0	0	3	7			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:60032881T>A	ENST00000397786.2	-	26	5906	c.5830A>T	c.(5830-5832)Atg>Ttg	p.M1944L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1944					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGTCTGCATATTTAGAGTC	0.343													23	134					0	0	0	0	A	60032881	T	A	60032881	3	1	323	1	0	0	0	0	1	0	0	0	9499	1406	49	5	714	5	MED13	17	60032881	Missense_Mutation	SNP	T	TCGA-CV-7435-01A-11D-2129-08	30706806	60032881	21162329	73	57514											
SLC26A11	284129	broad.mit.edu	37	chr17	78223009	78223009	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgcagcatcgactacActgtggtgctgggactcggc	7	10	13	11	2	1	0	0	0	1	0	3	2	1	1	0	3	4	3	0	3	1	1			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:78223009A>G	ENST00000361193.3	+	16	1859	c.1579A>G	c.(1579-1581)Act>Gct	p.T527A	SLC26A11_ENST00000572725.1_Missense_Mutation_p.T527A|SLC26A11_ENST00000411502.3_Missense_Mutation_p.T527A|SLC26A11_ENST00000546047.2_Missense_Mutation_p.T527A	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	527	STAS.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CATCGACTACACTGTGGTGCT	0.672													5	25					0	0	0	0	G	78223009	A	G	78223009	3	3	323	1	0	0	0	0	1	0	0	0	14604	159	6	5	1633	5	SLC26A11	17	78223009	Missense_Mutation	SNP	A	TCGA-CV-7435-01A-11D-2129-08	18190128	78223009	2972201	74	57515											
ROCK1	6093	broad.mit.edu	37	chr18	18534911	18534911	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtaggaataaactcaTggcctttgtgattttggaaa	13	13	11	4	0	1	2	1	1	0	1	1	4	1	4	1	3	1	1	1	3	5	5			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr18:18534911T>C	ENST00000399799.1	-	31	4626	c.3686A>G	c.(3685-3687)cAt>cGt	p.H1229R		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1229	Auto-inhibitory.|PH.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AATAAACTCATGGCCTTTGTG	0.413													11	37					0	0	0	0	C	18534911	T	C	18534911	3	2	323	1	0	0	0	0	1	0	0	0	13602	1464	51	5	390	5	ROCK1	18	18534911	Missense_Mutation	SNP	T	TCGA-CV-7435-01A-11D-2129-08		18534911	59542337	75	57516											
B4GALT6	9331	broad.mit.edu	37	chr18	29211087	29211087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacattgaaaagcatcgcaCggttaaaaggttgtgtgcca	13	9	10	9	2	0	1	0	1	0	0	1	1	0	1	2	2	2	4	2	2	4	3			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr18:29211087C>T	ENST00000306851.5	-	6	907	c.611G>A	c.(610-612)cGt>cAt	p.R204H	B4GALT6_ENST00000383131.3_Missense_Mutation_p.R165H|B4GALT6_ENST00000237019.7_Missense_Mutation_p.R165H	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	204					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			AAGCATCGCACGGTTAAAAGG	0.398													19	37					0	0	0	0	T	29211087	C	T	29211087	3	4	323	1	0	0	0	0	1	0	0	0	1279	536	19	1	553	1	B4GALT6	18	29211087	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	10676176	29211087	48866161	76	57517											
S1PR4	8698	broad.mit.edu	37	chr19	3179854	3179854	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccaccgacagctctcTgaggccaagggacagctttc	9	8	9	15	1	1	1	0	1	1	0	4	3	2	2	4	2	2	2	4	2	1	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:3179854T>A	ENST00000246115.3	+	1	1119	c.1064T>A	c.(1063-1065)cTg>cAg	p.L355Q		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	355					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GACAGCTCTCTGAGGCCAAGG	0.682													30	89					0	0	0	0	A	3179854	T	A	3179854	3	1	323	1	0	0	0	0	1	0	0	0	13881	1580	55	5	1066	5	S1PR4	19	3179854	Missense_Mutation	SNP	T	TCGA-CV-7435-01A-11D-2129-08		3179854	55949129	77	57518											
MUC16	94025	broad.mit.edu	37	chr19	9073955	9073955	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaggttccatgcttgtgttCaacatatctgtggtcttcac	8	15	8	10	0	4	0	2	0	2	0	5	0	5	0	1	2	2	3	1	2	2	5			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:9073955C>G	ENST00000397910.4	-	3	13694	c.13491G>C	c.(13489-13491)ttG>ttC	p.L4497F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4499	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						TGCTTGTGTTCAACATATCTG	0.453													28	76					0	0	0	0	G	9073955	C	G	9073955	3	3	323	1	0	0	0	0	1	0	0	0	10043	825	29	2	30360	2	MUC16	19	9073955	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	5894101	9073955	50055028	78	57519											
ZNF433	163059	broad.mit.edu	37	chr19	12126659	12126659	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gataatactttcccacaatgTttacattcatagggtttttt	11	18	5	7	0	1	0	1	0	0	0	2	1	2	0	1	1	2	2	1	1	5	10			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:12126659T>G	ENST00000419886.2	-	5	1209	c.918A>C	c.(916-918)aaA>aaC	p.K306N	ZNF433_ENST00000344980.6_Missense_Mutation_p.K341N|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TCCCACAATGTTTACATTCAT	0.388													6	58					0	0	0	0	G	12126659	T	G	12126659	3	3	323	1	0	0	0	0	1	0	0	0	18002	1722	60	5	1002	5	ZNF433	19	12126659	Missense_Mutation	SNP	T	TCGA-CV-7435-01A-11D-2129-08	3052704	12126659	47002324	79	57520											
ZNF99	7652	broad.mit.edu	37	chr19	22940586	22940586	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctaaaagctttgccacattCttcacatttgtagggtttct	9	16	7	9	0	3	0	1	0	2	0	3	0	3	0	1	1	2	4	1	1	3	7			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:22940586C>G	ENST00000397104.3	-	5	1851	c.1852G>C	c.(1852-1854)Gaa>Caa	p.E618Q	ZNF99_ENST00000596209.1_Missense_Mutation_p.E709Q					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCCACATTCTTCACATTTG	0.373													16	38					0	0	0	0	G	22940586	C	G	22940586	3	3	323	1	0	0	0	0	1	0	0	0	18297	922	32	2	1272	2	ZNF99	19	22940586	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	10813927	22940586	36188397	80	57521											
CEACAM21	90273	broad.mit.edu	37	chr19	42085740	42085740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctccatccaagccagcagCaccacagtcacagagaaggg	13	3	9	16	0	1	1	1	0	0	1	3	2	3	1	5	1	3	2	5	1	2	0			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:42085740C>A	ENST00000407170.2	+	4	888	c.75C>A	c.(73-75)agC>agA	p.S25R	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S153R|CEACAM21_ENST00000401445.2_Missense_Mutation_p.S153R			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	153						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						AAGCCAGCAGCACCACAGTCA	0.537													6	75					8.12818e-05	8.67006e-05	1	0	A	42085740	C	A	42085740	3	1	323	1	0	0	0	0	1	0	0	0	3221	709	25	4	469	4	CEACAM21	19	42085740	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	19145154	42085740	17043243	81	57522											
LILRB4	11006	broad.mit.edu	37	chr19	55174502	55174502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccatgatccccaccttcaCggctctgctctgcctcggtg	4	10	9	18	3	3	1	1	1	2	0	5	1	4	1	5	2	2	2	5	2	0	1			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:55174502C>T	ENST00000391736.1	+	3	332	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LILRB4_ENST00000391733.3_Missense_Mutation_p.T6M|LILRB4_ENST00000270452.2_Missense_Mutation_p.T6M|LILRB4_ENST00000430952.2_Missense_Mutation_p.T6M|LILRB4_ENST00000391734.3_Missense_Mutation_p.T6M	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	6						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCCACCTTCACGGCTCTGCTC	0.602											OREG0003670	type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	105					0	0	0	0	T	55174502	C	T	55174502	3	4	323	1	0	0	0	0	1	0	0	0	8847	536	19	1	19	1	LILRB4	19	55174502	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	13088762	55174502	3954481	82	57523											
ZMYND8	23613	broad.mit.edu	37	chr20	45875011	45875011	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccagggtctgccttctcGctggctggtgacgtgctttt	2	14	13	12	2	2	1	0	1	2	0	4	1	3	1	2	3	2	4	2	3	0	3			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr20:45875011G>A	ENST00000311275.7	-	14	2218	c.1965C>T	c.(1963-1965)agC>agT	p.S655S	ZMYND8_ENST00000540497.1_Silent_p.S603S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000446994.2_Silent_p.S592S|ZMYND8_ENST00000352431.2_Silent_p.S675S|ZMYND8_ENST00000262975.4_Silent_p.S655S|ZMYND8_ENST00000355972.4_Silent_p.S655S|ZMYND8_ENST00000372023.3_Silent_p.S650S|ZMYND8_ENST00000461685.1_Silent_p.S675S|ZMYND8_ENST00000536340.1_Silent_p.S682S|ZMYND8_ENST00000458360.2_Silent_p.S650S|ZMYND8_ENST00000360911.3_Silent_p.S650S|ZMYND8_ENST00000471951.2_Silent_p.S675S|ZMYND8_ENST00000396281.4_Silent_p.S655S			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	655							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTGCCTTCTCGCTGGCTGGTG	0.502													39	194					0	0	0	0	A	45875011	G	A	45875011	2	1	323	1	0	0	0	0	0	0	0	1	17806	1078	38	1		1	ZMYND8	20	45875011	Silent	SNP	G	TCGA-CV-7435-01A-11D-2129-08		45875011	17150509	83	57524											
GART	2618	broad.mit.edu	37	chr21	34897183	34897183	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggcttcctcaagggctgaTatgagattttcccggatggc	7	13	12	9	1	1	2	1	2	0	1	3	4	3	3	2	4	0	2	2	4	2	5			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr21:34897183T>C	ENST00000381831.3	-	11	1454	c.1191A>G	c.(1189-1191)atA>atG	p.I397M	GART_ENST00000381839.3_Missense_Mutation_p.I397M|GART_ENST00000361093.5_Missense_Mutation_p.I397M|GART_ENST00000381815.4_Missense_Mutation_p.I397M	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	397					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CAAGGGCTGATATGAGATTTT	0.488													34	70					0	0	0	0	C	34897183	T	C	34897183	3	2	323	1	0	0	0	0	1	0	0	0	6292	1396	49	5	1893	5	GART	21	34897183	Missense_Mutation	SNP	T	TCGA-CV-7435-01A-11D-2129-08		34897183	13232712	84	57525											
FANCB	2187	broad.mit.edu	37	chrX	14883285	14883285	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaaacgcatttcaaatttAttagtactgtgaaggattag	14	14	7	6	1	2	1	2	1	0	0	2	2	2	2	0	1	2	2	0	1	7	6			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:14883285A>G	ENST00000398334.1	-	3	615	c.348T>C	c.(346-348)aaT>aaC	p.N116N	FANCB_ENST00000324138.3_Silent_p.N116N	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	116					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)					TTTCAAATTTATTAGTACTGT	0.318								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	48					0	0	0	0	G	14883285	A	G	14883285	2	3	323	1	0	0	0	0	0	0	0	1	5708	446	16	5		5	FANCB	23	14883285	Silent	SNP	A	TCGA-CV-7435-01A-11D-2129-08		14883285	140387275	85	57526											
CXorf21	80231	broad.mit.edu	37	chrX	30577998	30577998	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggtaaaggaatctcagAtgacttcagcaaagggccat	14	8	11	8	0	2	2	2	1	1	1	3	3	2	3	1	3	1	2	1	3	4	2			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:30577998A>T	ENST00000378962.3	-	3	797	c.475T>A	c.(475-477)Tct>Act	p.S159T		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	159										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GGAATCTCAGATGACTTCAGC	0.453													22	54					0	0	0	0	T	30577998	A	T	30577998	3	4	323	1	0	0	0	0	1	0	0	0	4133	333	12	5	434	5	CXorf21	23	30577998	Missense_Mutation	SNP	A	TCGA-CV-7435-01A-11D-2129-08	15694713	30577998	124692562	86	57527											
FAM47C	442444	broad.mit.edu	37	chrX	37026592	37026592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgaagcgcaagcacaggCgcctgaggttcccgcctgtg	7	6	14	14	5	0	1	0	1	0	0	2	2	1	1	3	2	2	3	3	2	2	1			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:37026592C>T	ENST00000358047.3	+	1	161	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	37										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAAGCACAGGCGCCTGAGGTT	0.617													17	25					0	0	0	0	T	37026592	C	T	37026592	3	4	323	1	0	0	0	0	1	0	0	0	5618	768	27	1	111	1	FAM47C	23	37026592	Missense_Mutation	SNP	C	TCGA-CV-7435-01A-11D-2129-08	6448594	37026592	118243968	87	57528											
ZNF630	57232	broad.mit.edu	37	chrX	47918974	47918974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacatatggtttctctccaGtatgaattctttgatgtata	11	18	6	6	0	2	2	0	2	2	0	4	2	3	2	1	1	1	3	1	1	6	8			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:47918974G>A	ENST00000276054.4	-	5	1419	c.485C>T	c.(484-486)aCt>aTt	p.T162I	ZNF630_ENST00000409324.3_Missense_Mutation_p.T286I|ZNF630_ENST00000442455.3_Missense_Mutation_p.T272I|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TTTCTCTCCAGTATGAATTCT	0.388													32	100					0	0	0	0	A	47918974	G	A	47918974	3	1	323	1	0	0	0	0	1	0	0	0	18149	1029	36	4	1120	4	ZNF630	23	47918974	Missense_Mutation	SNP	G	TCGA-CV-7435-01A-11D-2129-08	10892382	47918974	107351586	88	57529											
HEPH	9843	broad.mit.edu	37	chrX	65476116	65476116	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacccatgggtcccaggAtccaggcagtattaacctac	11	7	10	13	0	0	0	0	0	0	0	2	1	2	1	4	4	3	3	4	4	4	3			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:65476116A>G	ENST00000519389.1	+	17	3181	c.3002A>G	c.(3001-3003)gAt>gGt	p.D1001G	HEPH_ENST00000419594.1_Missense_Mutation_p.D758G|HEPH_ENST00000374727.3_Missense_Mutation_p.D950G|HEPH_ENST00000336279.5_Missense_Mutation_p.D680G|HEPH_ENST00000343002.2_Missense_Mutation_p.D947G|HEPH_ENST00000441993.2_Missense_Mutation_p.D950G			Q9BQS7	HEPH_HUMAN	hephaestin	947	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGGTCCCAGGATCCAGGCAGT	0.413													23	87					0	0	0	0	G	65476116	A	G	65476116	3	3	323	1	0	0	0	0	1	0	0	0	7104	333	12	5	3068	5	HEPH	23	65476116	Missense_Mutation	SNP	A	TCGA-CV-7435-01A-11D-2129-08	17557142	65476116	89794444	89	57530											
CDK11B	984	broad.mit.edu	37	chr1	1586909	1586909	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcagctccccctcctcaagGgaatcccgcttggaatcccg	7	8	8	18	2	2	0	2	0	0	0	6	2	6	2	5	2	1	2	5	2	3	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:1586909G>T	ENST00000407249.3	-	2	140	c.141C>A	c.(139-141)tcC>tcA	p.S47S	CDK11B_ENST00000341832.6_Silent_p.S13S|CDK11B_ENST00000317673.7_Silent_p.S47S|CDK11B_ENST00000340677.5_Silent_p.S47S			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	47					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						cctcctcaagggaatcccgct	0.408													18	14					1.40151e-16	1.59139e-16	1	0	T	1586909	G	T	1586909	2	4	324	1	0	0	0	0	0	0	0	1	3156	1247	43	4		4	CDK11B	1	1586909	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08		1586909	247663712	1	57531											
KIAA1522	57648	broad.mit.edu	37	chr1	33235551	33235551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggatgccgtacgcatcccCacagtggacggccgcccccg	6	4	13	18	6	0	0	0	0	0	0	1	2	1	2	6	3	2	2	6	3	1	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:33235551C>T	ENST00000401073.2	+	6	841	c.771C>T	c.(769-771)ccC>ccT	p.P257P	KIAA1522_ENST00000373480.1_Silent_p.P198P|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.P209P	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	198										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TACGCATCCCCACAGTGGACG	0.721													13	14					0	0	0	0	T	33235551	C	T	33235551	2	4	324	1	0	0	0	0	0	0	0	1	8289	581	21	4		4	KIAA1522	1	33235551	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	31648642	33235551	216015070	2	57532											
NSUN4	387338	broad.mit.edu	37	chr1	46810800	46810800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgacagaggggatatcagtCgcttccctcctgccaggtag	8	10	12	11	1	1	2	1	1	0	1	4	3	3	3	3	3	1	2	3	3	2	4			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:46810800C>T	ENST00000474844.1	+	2	1071	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	NSUN4_ENST00000536062.1_Missense_Mutation_p.R92C|NSUN4_ENST00000537428.1_Missense_Mutation_p.R92C|NSUN4_ENST00000498008.1_3'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	141							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GGATATCAGTCGCTTCCCTCC	0.567													16	55					0	0	0	0	T	46810800	C	T	46810800	3	4	324	1	0	0	0	0	1	0	0	0	10751	884	31	1	427	1	NSUN4	1	46810800	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	13575249	46810800	202439821	3	57533											
EPHX4	253152	broad.mit.edu	37	chr1	92495663	92495663	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggctgcgggattgcctgccCcgcctgatgctcacgctccg	4	8	13	16	4	1	1	1	1	0	0	2	2	2	2	5	2	4	3	5	2	0	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:92495663C>G	ENST00000370383.4	+	1	125	c.27C>G	c.(25-27)ccC>ccG	p.P9P		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	9						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ATTGCCTGCCCCGCCTGATGC	0.701													9	7					0	0	0	0	G	92495663	C	G	92495663	2	3	324	1	0	0	0	0	0	0	0	1	5220	610	22	4		4	EPHX4	1	92495663	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	45684863	92495663	156754958	4	57534											
KCNA3	3738	broad.mit.edu	37	chr1	111216794	111216794	+	Frame_Shift_Del	DEL	C	C	-																															cctggcgctggaagtcgcggCggggcaagggccgctcctcc																										TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:111216794delC	ENST00000369769.2	-	1	861	c.638delG	c.(637-639)ccfs	p.R214fs		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	214						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGTCGCGGCGGGGCAAGGG	0.682													38	30	---	---	---	---					-	111216794	C	-	111216794	7	5	324	1	0	1	0	1	0	0	0	0	8057	768	27	0	1093	0	KCNA3	1	111216794	Frame_Shift_Del	DEL	C	TCGA-CV-7437-01A-21D-2129-08	18721131	111216794	138033827	5	57535											
NOTCH2	4853	broad.mit.edu	37	chr1	120467945	120467945	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacttgcatgtcttgctgttCccctggcattcaaagttgtc	6	16	8	11	0	2	0	1	0	1	0	4	0	3	0	2	1	3	5	2	1	2	6			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:120467945C>T	ENST00000256646.2	-	25	4713	c.4494G>A	c.(4492-4494)ggG>ggA	p.G1498G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1498	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		TCTTGCTGTTCCCCTGGCATT	0.498			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				27	466					0	0	0	0	T	120467945	C	T	120467945	2	4	324	1	0	0	0	0	0	0	0	1	10618	842	30	2		2	NOTCH2	1	120467945	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	9251151	120467945	128782676	6	57536											
PLEKHO1	51177	broad.mit.edu	37	chr1	150128284	150128284	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgagaaaaatattcaaGaggtatttgacctgagtgac	17	10	10	4	0	1	6	1	4	0	3	1	7	1	6	1	1	0	1	1	1	6	4			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:150128284G>T	ENST00000369124.4	+	3	480	c.202G>T	c.(202-204)Gag>Tag	p.E68*	PLEKHO1_ENST00000025469.6_Nonsense_Mutation_p.E68*|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_5'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	68	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAATATTCAAGAGGTATTTGA	0.438													9	236					0.000673444	0.000693135	1	0	T	150128284	G	T	150128284	4	4	324	1	0	0	0	0	0	1	0	0	12156	943	33	2	212	2	PLEKHO1	1	150128284	Nonsense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	29660339	150128284	99122337	7	57537											
FLG	2312	broad.mit.edu	37	chr1	152281214	152281214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctgagtcttctgaatGtccctcactgtcactggcct	5	15	9	12	0	5	2	2	2	3	0	6	2	6	2	2	1	0	0	2	1	1	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:152281214G>T	ENST00000368799.1	-	3	6183	c.6148C>A	c.(6148-6150)Cat>Aat	p.H2050N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2050	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCTGAATGTCCCTCACTG	0.562									Ichthyosis				30	863					1.08312e-15	1.22198e-15	1	0	T	152281214	G	T	152281214	3	4	324	1	0	0	0	0	1	0	0	0	5967	1377	48	4	6041	4	FLG	1	152281214	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	2152930	152281214	96969407	8	57538											
RUSC1	23623	broad.mit.edu	37	chr1	155292476	155292476	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatggagaagtgacgtcagCgaggagccggtgccccaccg	9	4	17	11	4	1	2	1	1	0	1	1	6	1	4	4	4	3	0	4	4	1	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:155292476C>T	ENST00000368352.5	+	2	1063	c.912C>T	c.(910-912)agC>agT	p.S304S	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Silent_p.S304S	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	304						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GTGACGTCAGCGAGGAGCCGG	0.557													35	117					0	0	0	0	T	155292476	C	T	155292476	2	4	324	1	0	0	0	0	0	0	0	1	13835	767	27	1		1	RUSC1	1	155292476	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	3011262	155292476	93958145	9	57539											
CD247	919	broad.mit.edu	37	chr1	167400951	167400951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcctgcatgtgaagggcGtcgtaggtgtccttggtggc	5	10	18	8	2	0	1	0	1	0	0	2	1	1	1	2	5	1	2	2	5	2	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:167400951G>A	ENST00000392122.3	-	8	603	c.459C>T	c.(457-459)gaC>gaT	p.D153D	CD247_ENST00000362089.5_Silent_p.D154D|CD247_ENST00000483825.1_5'UTR	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	154	ITAM 3.				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			TGTGAAGGGCGTCGTAGGTGT	0.562													8	211					0	0	0	0	A	167400951	G	A	167400951	2	1	324	1	0	0	0	0	0	0	0	1	3017	1136	40	1		1	CD247	1	167400951	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	12108475	167400951	81849670	10	57540											
SERPINC1	462	broad.mit.edu	37	chr1	173881055	173881055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggctgatactaacttggagGatttgttggcttttcgatag	8	16	12	5	1	0	1	0	1	0	0	1	4	0	3	0	4	2	3	0	4	3	8			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:173881055G>T	ENST00000367698.3	-	3	624	c.506C>A	c.(505-507)tCc>tAc	p.S169Y		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	169					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TAACTTGGAGGATTTGTTGGC	0.423													18	186					7.07596e-05	7.36905e-05	1	0	T	173881055	G	T	173881055	3	4	324	1	0	0	0	0	1	0	0	0	14196	1174	41	2	908	2	SERPINC1	1	173881055	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	6480104	173881055	75369566	11	57541											
PRG4	10216	broad.mit.edu	37	chr1	186275519	186275519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	accagttgtagatgaagctgGaagtggattggacaatggtg	12	10	15	4	0	0	2	0	1	0	1	0	5	0	5	1	4	1	3	1	4	4	3	rs28698702		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:186275519G>C	ENST00000445192.2	+	7	713	c.668G>C	c.(667-669)gGa>gCa	p.G223A	PRG4_ENST00000367485.4_Missense_Mutation_p.G130A|PRG4_ENST00000367486.3_Missense_Mutation_p.G180A|PRG4_ENST00000367483.4_Missense_Mutation_p.G182A|PRG4_ENST00000367484.3_Missense_Mutation_p.G182A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	223					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GATGAAGCTGGAAGTGGATTG	0.393													57	206					0	0	0	0	C	186275519	G	C	186275519	3	2	324	1	0	0	0	0	1	0	0	0	12561	1174	41	2	690	2	PRG4	1	186275519	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	12394464	186275519	62975102	12	57542											
CFH	3075	broad.mit.edu	37	chr1	196642255	196642255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aataatggtatgcaggaaggGagaatgggttgctcttaatc	13	11	13	4	0	1	1	0	0	1	1	2	3	1	2	0	4	2	4	0	4	6	4			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:196642255G>T	ENST00000367429.4	+	2	446	c.206G>T	c.(205-207)gGa>gTa	p.G69V	CFH_ENST00000496761.1_3'UTR|CFH_ENST00000359637.2_Missense_Mutation_p.G69V|CFH_ENST00000439155.2_Missense_Mutation_p.G69V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	69	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGCAGGAAGGGAGAATGGGTT	0.363													69	44					2.72615e-36	3.28632e-36	1	0	T	196642255	G	T	196642255	3	4	324	1	0	0	0	0	1	0	0	0	3312	1174	41	2	212	2	CFH	1	196642255	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	10366736	196642255	52608366	13	57543											
AVPR1B	553	broad.mit.edu	37	chr1	206224960	206224960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagtcttcattttttccCtgcgggaggtgatccagggc	6	13	11	11	1	3	1	2	1	1	0	5	2	5	2	2	3	1	0	2	3	1	4			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:206224960C>T	ENST00000367126.4	+	1	985	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	174					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CATTTTTTCCCTGCGGGAGGT	0.647													14	107					0	0	0	0	T	206224960	C	T	206224960	2	4	324	1	0	0	0	0	0	0	0	1	1236	680	24	4		4	AVPR1B	1	206224960	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	9582705	206224960	43025661	14	57544											
PGBD5	79605	broad.mit.edu	37	chr1	230468601	230468601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcactcaccctgctgcaccGgggagtaggcgttggtcagg	6	7	15	13	3	2	0	2	0	0	0	2	1	2	1	2	5	2	5	2	5	1	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:230468601G>A	ENST00000321327.2	-	7	1351	c.1352C>T	c.(1351-1353)cCg>cTg	p.P451L	PGBD5_ENST00000391860.1_Missense_Mutation_p.P306L|PGBD5_ENST00000525115.1_Missense_Mutation_p.P352L|PGBD5_ENST00000530424.1_5'UTR			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	352						integral to membrane		p.P451L(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTGCTGCACCGGGGAGTAGGC	0.627													33	63					0	0	0	0	A	230468601	G	A	230468601	3	1	324	1	0	0	0	0	1	0	0	0	11856	1116	39	1	324	1	PGBD5	1	230468601	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	24243641	230468601	18782020	15	57545											
PGBD2	267002	broad.mit.edu	37	chr1	249211729	249211729	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagccctcacagggcacaCtgtttaccaagccagacagg	11	7	10	13	0	1	2	1	1	0	1	1	2	1	2	3	2	3	2	3	2	2	3	rs75935520		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:249211729C>G	ENST00000355360.4	+	3	463	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	PGBD2_ENST00000539153.1_Missense_Mutation_p.L313V|PGBD2_ENST00000329291.5_Missense_Mutation_p.L316V	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	316										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACAGGGCACACTGTTTACCAA	0.512													82	33					0	0	0	0	G	249211729	C	G	249211729	3	3	324	1	0	0	0	0	1	0	0	0	11853	564	20	4	952	4	PGBD2	1	249211729	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	18743128	249211729	38892	16	57546											
OSR1	130497	broad.mit.edu	37	chr2	19552911	19552911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgccgcacctgtggtctCgcaggtggtcttgcctccgg	3	10	14	14	3	2	0	0	0	2	0	4	0	3	0	4	4	2	2	4	4	0	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:19552911C>T	ENST00000536433.1	-	1	3766	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	OSR1_ENST00000272223.2_Missense_Mutation_p.R219Q			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	219					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CCTGTGGTCTCGCAGGTGGTC	0.597													48	65					0	0	0	0	T	19552911	C	T	19552911	3	4	324	1	0	0	0	0	1	0	0	0	11364	884	31	1	152	1	OSR1	2	19552911	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08		19552911	223646462	17	57547											
PLEKHH2	130271	broad.mit.edu	37	chr2	43927243	43927243	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggaacaagatagttcCtcggatgaactgaataaaaa	21	7	8	5	1	0	3	0	2	0	1	2	5	1	5	1	2	2	1	1	2	10	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:43927243C>T	ENST00000282406.4	+	8	1256	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	382						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGATAGTTCCTCGGATGAAC	0.403													51	63					0	0	0	0	T	43927243	C	T	43927243	2	4	324	1	0	0	0	0	0	0	0	1	12149	668	24	4		4	PLEKHH2	2	43927243	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	24374332	43927243	199272130	18	57548											
ABCG8	64241	broad.mit.edu	37	chr2	44078781	44078781	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaggtcacggcggcaagatCaagtcaggccagatctggat	11	6	14	10	3	4	2	3	0	1	2	4	4	4	3	1	5	0	1	1	5	2	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:44078781C>G	ENST00000272286.2	+	4	471	c.381C>G	c.(379-381)atC>atG	p.I127M		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	127	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCGGCAAGATCAAGTCAGGCC	0.602													42	48					0	0	0	0	G	44078781	C	G	44078781	3	3	324	1	0	0	0	0	1	0	0	0	72	816	29	2	395	2	ABCG8	2	44078781	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	151538	44078781	199120592	19	57549											
ZNF514	84874	broad.mit.edu	37	chr2	95815442	95815442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggctctcccacattcaCtgcattcatagggcttttct	8	14	7	12	0	4	1	2	1	2	0	5	1	4	1	1	2	1	3	1	2	2	5			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:95815442C>A	ENST00000295208.2	-	5	1250	c.788G>T	c.(787-789)aGt>aTt	p.S263I	ZNF514_ENST00000411425.1_Missense_Mutation_p.S263I	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						CCCACATTCACTGCATTCATA	0.433													26	115					3.01185e-09	3.23223e-09	1	0	A	95815442	C	A	95815442	3	1	324	1	0	0	0	0	1	0	0	0	18054	565	20	4	418	4	ZNF514	2	95815442	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	51736661	95815442	147383931	20	57550			1	87		2	2	12	N	G_C	5.649668e-05
ZNF514	84874	broad.mit.edu	37	chr2	95815453	95815453	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcactgcattcataGggcttttctccagtatgagt	9	14	7	11	0	3	1	2	1	1	0	4	1	3	1	2	1	1	3	2	1	2	6	rs140564139		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:95815453G>C	ENST00000295208.2	-	5	1239	c.777C>G	c.(775-777)ccC>ccG	p.P259P	ZNF514_ENST00000411425.1_Silent_p.P259P	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGCATTCATAGGGCTTTTCTC	0.418													30	130					0	0	0	0	C	95815453	G	C	95815453	2	2	324	1	0	0	0	0	0	0	0	1	18054	987	35	4		4	ZNF514	2	95815453	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	11	95815453	147383920	21	57551			1	87		2	2	12	N	G_C	5.649668e-05
TUBA3E	112714	broad.mit.edu	37	chr2	130951598	130951598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctgagatgactggggCgtaggtggccagggggaagt	8	7	19	7	1	1	2	1	2	0	1	1	4	1	3	1	6	1	2	1	6	2	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:130951598C>T	ENST00000312988.7	-	4	917	c.817G>A	c.(817-819)Gcc>Acc	p.A273T		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	273					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ATGACTGGGGCGTAGGTGGCC	0.597													32	199					0	0	0	0	T	130951598	C	T	130951598	3	4	324	1	0	0	0	0	1	0	0	0	16844	768	27	1	543	1	TUBA3E	2	130951598	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	35136145	130951598	112247775	22	57552											
BAZ2B	29994	broad.mit.edu	37	chr2	160204131	160204131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgagttacttggttttcttCattttcattcagttcaataa	9	20	5	7	1	5	0	4	0	1	0	6	1	5	0	0	1	1	3	0	1	3	10			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:160204131C>T	ENST00000392783.2	-	31	5815	c.5320G>A	c.(5320-5322)Gaa>Aaa	p.E1774K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1738K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1740K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1674K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGGTTTTCTTCATTTTCATTC	0.343													14	33					0	0	0	0	T	160204131	C	T	160204131	3	4	324	1	0	0	0	0	1	0	0	0	1336	835	29	2	1214	2	BAZ2B	2	160204131	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	29252533	160204131	82995242	23	57553											
TBR1	10716	broad.mit.edu	37	chr2	162274717	162274717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatttctttctctaggaaatCgggtctatatgcatccggat	9	16	8	8	2	3	0	0	0	3	0	6	2	4	2	1	3	1	1	1	3	5	6			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:162274717C>T	ENST00000389554.3	+	3	1170	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	TBR1_ENST00000410035.1_5'UTR	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	285						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TCTAGGAAATCGGGTCTATAT	0.478													19	28					0	0	0	0	T	162274717	C	T	162274717	3	4	324	1	0	0	0	0	1	0	0	0	15741	875	31	1	863	1	TBR1	2	162274717	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	2070586	162274717	80924656	24	57554											
NFE2L2	4780	broad.mit.edu	37	chr2	178098962	178098962	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcgacttactccaagatctAtatcttgcctccaaagtatg	11	13	5	12	1	2	1	0	0	2	1	5	2	4	1	3	0	2	1	3	0	6	5			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:178098962A>G	ENST00000397062.3	-	2	637	c.83T>C	c.(82-84)aTa>aCa	p.I28T	NFE2L2_ENST00000464747.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000446151.2_Missense_Mutation_p.I12T|NFE2L2_ENST00000423513.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.I12T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	28					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I28T(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCCAAGATCTATATCTTGCCT	0.358			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			19	14					0	0	0	0	G	178098962	A	G	178098962	3	3	324	1	0	0	0	0	1	0	0	0	10438	449	16	5	1750	5	NFE2L2	2	178098962	Missense_Mutation	SNP	A	TCGA-CV-7437-01A-21D-2129-08	15824245	178098962	65100411	25	57555											
TTN	7273	broad.mit.edu	37	chr2	179463494	179463494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaattggatctctagcagtCgctgggtctgatggcagact	8	11	12	10	1	2	2	0	1	2	1	4	3	2	3	1	3	1	3	1	3	2	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:179463494C>T	ENST00000589042.1	-	291	57167	c.56943G>A	c.(56941-56943)gcG>gcA	p.A18981A	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.A17340A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.A16413A|TTN_ENST00000359218.5_Silent_p.A10041A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.A10108A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.A9916A|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17340	Fibronectin type-III 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A16411A(1)|p.A9916A(1)|p.A10108A(1)|p.A10041A(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)			CTCTAGCAGTCGCTGGGTCTG	0.418													56	162					0	0	0	0	T	179463494	C	T	179463494	2	4	324	1	0	0	0	0	0	0	0	1	16831	871	31	1		1	TTN	2	179463494	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	1364532	179463494	63735879	26	57556											
TTN	7273	broad.mit.edu	37	chr2	179517412	179517412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcaggctttttaggaGgagccgagggcactttcttt	7	13	13	8	1	2	0	1	0	1	0	2	4	2	3	1	5	1	2	1	5	1	6			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:179517412G>A	ENST00000589042.1	-	201	39235	c.39011C>T	c.(39010-39012)cCt>cTt	p.P13004L	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11346	Ig-like 86.						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)			CTTTTTAGGAGGAGCCGAGGG	0.388													92	140					0	0	0	0	A	179517412	G	A	179517412	3	1	324	1	0	0	0	0	1	0	0	0	16831	1015	35	4		4	TTN	2	179517412	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	53918	179517412	63681961	27	57557											
BARD1	580	broad.mit.edu	37	chr2	215645436	215645436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacctggtgaaagactaaTgaattcatcggacatgttac	13	12	9	7	1	1	3	1	2	0	1	2	4	1	4	1	2	2	2	1	2	5	4			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:215645436T>C	ENST00000260947.4	-	4	1296	c.1162A>G	c.(1162-1164)Att>Gtt	p.I388V	BARD1_ENST00000449967.2_Missense_Mutation_p.I244V	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	388					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAAAGACTAATGAATTCATCG	0.423									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				6	114					0	0	0	0	C	215645436	T	C	215645436	3	2	324	1	0	0	0	0	1	0	0	0	1316	1464	51	5	1203	5	BARD1	2	215645436	Missense_Mutation	SNP	T	TCGA-CV-7437-01A-21D-2129-08	36128024	215645436	27553937	28	57558											
PAX3	5077	broad.mit.edu	37	chr2	223161823	223161823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacgcagggccggatgccGtggtgggccatctccacgat	7	7	15	12	4	1	1	0	1	1	0	2	3	1	2	4	4	1	1	4	4	0	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:223161823G>T	ENST00000350526.4	-	2	331	c.195C>A	c.(193-195)caC>caA	p.H65Q	PAX3_ENST00000258387.5_Missense_Mutation_p.H65Q|PAX3_ENST00000344493.4_Missense_Mutation_p.H65Q|PAX3_ENST00000336840.6_Missense_Mutation_p.H65Q|PAX3_ENST00000409828.3_Missense_Mutation_p.H65Q|PAX3_ENST00000392070.2_Missense_Mutation_p.H65Q|PAX3_ENST00000409551.3_Missense_Mutation_p.H65Q|PAX3_ENST00000392069.2_Missense_Mutation_p.H65Q	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	65	Paired.		Missing (in WS1).		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H65H(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCGGATGCCGTGGTGGGCCA	0.657			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						15	7					4.7546e-09	5.07158e-09	1	0	T	223161823	G	T	223161823	3	4	324	1	0	0	0	0	1	0	0	0	11551	1136	40	3	1487	3	PAX3	2	223161823	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	7516387	223161823	20037550	29	57559											
TTC21A	199223	broad.mit.edu	37	chr3	39170771	39170771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctacctgcagaccctcaGagacaggcgcctctacatca	11	7	7	16	1	4	2	2	0	2	2	4	3	4	2	3	1	3	1	3	1	2	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:39170771G>A	ENST00000301819.6	+	15	2306	c.2129G>A	c.(2128-2130)aGa>aAa	p.R710K	TTC21A_ENST00000440121.1_Missense_Mutation_p.R661K|TTC21A_ENST00000431162.2_Missense_Mutation_p.R709K	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	709							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGACCCTCAGAGACAGGCGC	0.522													67	52					0	0	0	0	A	39170771	G	A	39170771	3	1	324	1	0	0	0	0	1	0	0	0	16783	942	33	2	2187	2	TTC21A	3	39170771	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08		39170771	158851659	30	57560											
MAGI1	9223	broad.mit.edu	37	chr3	65376930	65376930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctctgcaggtgggaactcgGggagcacctgtgtgctgtgg	5	9	17	10	1	1	0	0	0	1	0	2	2	1	2	2	5	4	3	2	5	1	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:65376930G>A	ENST00000330909.8	-	14	2302	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L	MAGI1_ENST00000483466.1_Missense_Mutation_p.P768L|MAGI1_ENST00000497477.2_Missense_Mutation_p.P768L|MAGI1_ENST00000402939.2_Missense_Mutation_p.P768L	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	768					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGGGAACTCGGGGAGCACCTG	0.547													54	25					0	0	0	0	A	65376930	G	A	65376930	3	1	324	1	0	0	0	0	1	0	0	0	9259	1232	43	4	2359	4	MAGI1	3	65376930	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	26206159	65376930	132645500	31	57561											
ZDHHC23	254887	broad.mit.edu	37	chr3	113672830	113672830	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagccttggactgttctctCtgggctacatgtactatgtg	6	15	11	9	0	2	1	0	1	2	0	3	2	2	2	1	2	3	3	1	2	3	5			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:113672830C>T	ENST00000330212.3	+	3	744	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	ZDHHC23_ENST00000498275.1_Silent_p.L143L	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	149						integral to membrane	acyltransferase activity|zinc ion binding	p.L149V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ACTGTTCTCTCTGGGCTACAT	0.522													34	96					0	0	0	0	T	113672830	C	T	113672830	2	4	324	1	0	0	0	0	0	0	0	1	17709	912	32	2		2	ZDHHC23	3	113672830	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	48295900	113672830	84349600	32	57562											
SHOX2	6474	broad.mit.edu	37	chr3	157820514	157820514	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgctggctcagttcctctcGcatgaaggcgtcgggatagt	6	11	13	11	4	2	1	1	1	1	0	6	2	3	2	1	3	0	4	1	3	2	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:157820514G>A	ENST00000490689.2	-	2	1654	c.121C>T	c.(121-123)Cga>Tga	p.R41*	SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000425436.3_Nonsense_Mutation_p.R170*|SHOX2_ENST00000483851.2_Nonsense_Mutation_p.R170*|SHOX2_ENST00000441443.2_Nonsense_Mutation_p.R41*|SHOX2_ENST00000389589.4_Nonsense_Mutation_p.R194*			O60902	SHOX2_HUMAN	short stature homeobox 2	170					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGTTCCTCTCGCATGAAGGCG	0.597													23	246					0	0	0	0	A	157820514	G	A	157820514	4	1	324	1	0	0	0	0	0	1	0	0	14377	1095	38	1	503	1	SHOX2	3	157820514	Nonsense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	44147684	157820514	40201916	33	57563											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540507	169540507	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acggaaatcgggctgagcggGaaccgcctggagaaggtgcc	10	4	17	10	4	0	2	0	1	0	1	1	5	0	4	3	5	3	1	3	5	3	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:169540507G>A	ENST00000340806.6	+	1	798	c.798G>A	c.(796-798)ggG>ggA	p.G266G		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	266										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GGCTGAGCGGGAACCGCCTGG	0.612													7	114					0	0	0	0	A	169540507	G	A	169540507	2	1	324	1	0	0	0	0	0	0	0	1	9095	1161	41	2		2	LRRIQ4	3	169540507	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	11719993	169540507	28481923	34	57564											
PHC3	80012	broad.mit.edu	37	chr3	169840414	169840414	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagtcaaatcttctcctCtccccactgttatagctgct	9	13	5	14	0	4	1	1	0	3	1	6	1	4	1	3	0	2	3	3	0	4	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:169840414C>G	ENST00000494943.1	-	9	1939	c.1871G>C	c.(1870-1872)aGa>aCa	p.R624T	PHC3_ENST00000467570.1_Missense_Mutation_p.R583T|PHC3_ENST00000495893.1_Missense_Mutation_p.R636T			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	624	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATCTTCTCCTCTCCCCACTGT	0.398													10	202					0	0	0	0	G	169840414	C	G	169840414	3	3	324	1	0	0	0	0	1	0	0	0	11890	913	32	2	1108	2	PHC3	3	169840414	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	299907	169840414	28182016	35	57565											
N4BP2	55728	broad.mit.edu	37	chr4	40122594	40122594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctgaaatgctgctcagtGaaatgacctgtgagagtcag	11	11	12	7	0	3	4	2	4	1	1	3	5	3	4	1	0	2	3	1	0	2	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:40122594G>A	ENST00000261435.6	+	9	3279	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	955						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GCTGCTCAGTGAAATGACCTG	0.438													28	36					0	0	0	0	A	40122594	G	A	40122594	3	1	324	1	0	0	0	0	1	0	0	0	10180	1291	45	2	2889	2	N4BP2	4	40122594	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08		40122594	151031682	36	57566											
ADAMTS3	9508	broad.mit.edu	37	chr4	73149358	73149358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acttgttataacctggtatgGagcagtatcgtgccaacact	11	12	9	9	1	0	0	0	0	0	0	1	1	0	1	2	2	4	4	2	2	5	5			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:73149358G>A	ENST00000286657.4	-	22	3149	c.3113C>T	c.(3112-3114)tCc>tTc	p.S1038F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1038	PLAC.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCTGGTATGGAGCAGTATCG	0.418													7	116					0	0	0	0	A	73149358	G	A	73149358	3	1	324	1	0	0	0	0	1	0	0	0	267	1174	41	2	508	2	ADAMTS3	4	73149358	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	33026764	73149358	118004918	37	57567											
IL2	3558	broad.mit.edu	37	chr4	123377563	123377563	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaagtgcaagacttagTgcaatgcaagacaggagttg	14	8	13	6	0	0	3	0	1	0	2	0	4	0	4	0	1	3	4	0	1	5	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:123377563T>C	ENST00000226730.4	-	1	317	c.33A>G	c.(31-33)gcA>gcG	p.A11A		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	11					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		CAAGACTTAGTGCAATGCAAG	0.413			T	TNFRSF17	intestinal T-cell lymphoma								39	22					0	0	0	0	C	123377563	T	C	123377563	2	2	324	1	0	0	0	0	0	0	0	1	7719	1683	59	5		5	IL2	4	123377563	Silent	SNP	T	TCGA-CV-7437-01A-21D-2129-08	50228205	123377563	67776713	38	57568											
HHIP	64399	broad.mit.edu	37	chr4	145581029	145581029	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttatttttgtgctggctaCgttaattttattttagtgtt	7	24	7	3	1	0	0	0	0	0	0	0	0	0	0	0	1	2	4	0	1	5	11			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:145581029C>T	ENST00000434550.2	+	4	1374	c.870C>T	c.(868-870)taC>taT	p.Y290Y	HHIP_ENST00000296575.3_Intron|HHIP-AS1_ENST00000512359.1_RNA			Q96QV1	HHIP_HUMAN	hedgehog interacting protein	155						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GTGCTGGCTACGTTAATTTTA	0.313													5	10					0	0	0	0	T	145581029	C	T	145581029	2	4	324	1	0	0	0	0	0	0	0	1	7142	551	19	1		1	HHIP	4	145581029	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	22203466	145581029	45573247	39	57569											
F11	2160	broad.mit.edu	37	chr4	187205256	187205256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgcagagtgtaccacCaaaatcaagcccaggatcgt	12	9	9	11	1	2	1	1	0	1	1	3	2	2	2	3	1	3	3	3	1	4	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:187205256C>T	ENST00000264692.4	+	11	1323	c.990C>T	c.(988-990)acC>acT	p.T330T	F11_ENST00000403665.2_Silent_p.T382T			P03951	FA11_HUMAN	coagulation factor XI	382	Apple 4.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGTGTACCACCAAAATCAAGC	0.502													32	27					0	0	0	0	T	187205256	C	T	187205256	2	4	324	1	0	0	0	0	0	0	0	1	5375	581	21	4		4	F11	4	187205256	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	41624227	187205256	3949020	40	57570											
FAT1	2195	broad.mit.edu	37	chr4	187630671	187630692	+	Frame_Shift_Del	DEL	TTTCCTCCTTTGGTCCTTATTC	TTTCCTCCTTTGGTCCTTATTC	-																															ctctattaagaatagctgtaTttcctcctttggtccttatt																										TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr4:187630671_187630692delTTTCCTCCTTTGGTCCTTATTC	ENST00000441802.2	-	2	499_520	c.290_311delGAATAAGGACCAAAGGAGGAAA	c.(289-312)atfs	p.RIRTKGGN97fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	97	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATAGCTGTATTTCCTCCTTTGGTCCTTATTCTTAGAAAGCA	0.405										HNSCC(5;0.00058)			10	26	---	---	---	---					-	187630692	TTTCCTCCTTTGGTCCTTATTC	-	187630671	7	5	324	1	0	1	0	1	0	0	0	0	5734	1493	52	0	13559	0	FAT1	4	187630671	Frame_Shift_Del	DEL	TTTCCTCCTTTGGTCCTTATTC	TCGA-CV-7437-01A-21D-2129-08	425415	187630671	3523605	41	57571											
NKD2	85409	broad.mit.edu	37	chr5	1033581	1033581	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaaaccgcgagggcccGcgaggaccgggcgggcagcg	8	0	19	14	7	0	0	0	0	0	0	0	3	0	1	3	4	3	3	3	4	1	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr5:1033581G>A	ENST00000296849.5	+	5	526	c.297G>A	c.(295-297)ccG>ccA	p.P99P	NKD2_ENST00000274150.4_Silent_p.P99P|NKD2_ENST00000537972.1_Silent_p.P99P	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	99	Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GCGAGGGCCCGCGAGGACCGG	0.692													4	2					0	0	0	0	A	1033581	G	A	1033581	2	1	324	1	0	0	0	0	0	0	0	1	10512	1074	38	1		1	NKD2	5	1033581	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08		1033581	179881679	42	57572											
SLC6A3	6531	broad.mit.edu	37	chr5	1416215	1416215	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctgctaggggctcacctGtagcagttgttggtgaactt	6	12	13	10	0	1	1	1	1	0	0	1	1	1	1	2	3	3	6	2	3	3	5			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:1416215G>T	ENST00000270349.9	-	7	1156	c.1029C>A	c.(1027-1029)taC>taA	p.Y343*	SLC6A3_ENST00000453492.2_Nonsense_Mutation_p.Y343*	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	343					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGGCTCACCTGTAGCAGTTGT	0.587													14	57					1.05317e-09	1.14419e-09	1	0	T	1416215	G	T	1416215	4	4	324	1	0	0	0	0	0	1	0	0	14773	1372	48	4	869	4	SLC6A3	5	1416215	Nonsense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	382634	1416215	179499045	43	57573											
FAM173B	134145	broad.mit.edu	37	chr5	10239377	10239377	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcccagtaagtaagaacccCcagttgcttttctgcaaact	12	10	7	12	0	1	1	0	0	1	1	1	1	1	1	3	0	5	5	3	0	4	5			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:10239377C>T	ENST00000511437.1	-	2	120	c.108G>A	c.(106-108)tgG>tgA	p.W36*	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Nonsense_Mutation_p.W36*|FAM173B_ENST00000510052.1_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	36						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GTAAGAACCCCCAGTTGCTTT	0.478													60	109					0	0	0	0	T	10239377	C	T	10239377	4	4	324	1	0	0	0	0	0	1	0	0	5535	624	22	4	609	4	FAM173B	5	10239377	Nonsense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	8823162	10239377	170675883	44	57574											
CTNND2	1501	broad.mit.edu	37	chr5	11364898	11364898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagggggcttctgatagaCgcggtcttcatagatgggat	9	11	14	7	2	3	3	1	1	2	2	3	4	3	4	0	4	0	1	0	4	3	5	rs148824970	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:11364898C>T	ENST00000304623.8	-	8	1471	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	CTNND2_ENST00000503622.1_Missense_Mutation_p.V91I|CTNND2_ENST00000511377.1_Missense_Mutation_p.V337I|CTNND2_ENST00000359640.2_Missense_Mutation_p.V428I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	428					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.V428I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCTGATAGACGCGGTCTTCA	0.617													15	59					0	0	0	0	T	11364898	C	T	11364898	3	4	324	1	0	0	0	0	1	0	0	0	4052	536	19	1	2455	1	CTNND2	5	11364898	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	1125521	11364898	169550362	45	57575											
DNAH5	1767	broad.mit.edu	37	chr5	13830755	13830755	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatctggtctgaacaattGaaaaccacgacgtatttccc	12	11	6	12	2	2	2	0	2	2	0	4	3	4	2	3	1	2	1	3	1	5	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:13830755G>A	ENST00000265104.4	-	36	6116	c.6012C>T	c.(6010-6012)ttC>ttT	p.F2004F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2004	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGAACAATTGAAAACCACGA	0.473									Kartagener syndrome				19	104					0	0	0	0	A	13830755	G	A	13830755	2	1	324	1	0	0	0	0	0	0	0	1	4641	1281	45	2		2	DNAH5	5	13830755	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	2465857	13830755	167084505	46	57576											
UGT3A2	167127	broad.mit.edu	37	chr5	36049095	36049095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcagagttaatgaaccAcaactctgctttcagtagaa	16	10	7	8	0	3	3	2	1	1	2	3	3	3	3	1	0	3	3	1	0	6	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:36049095A>G	ENST00000282507.3	-	4	840	c.739T>C	c.(739-741)Tgg>Cgg	p.W247R	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.W213R|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	247						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAATGAACCACAACTCTGCT	0.428													66	77					0	0	0	0	G	36049095	A	G	36049095	3	3	324	1	0	0	0	0	1	0	0	0	17060	159	6	5	848	5	UGT3A2	5	36049095	Missense_Mutation	SNP	A	TCGA-CV-7437-01A-21D-2129-08	22218340	36049095	144866165	47	57577											
LMBRD2	92255	broad.mit.edu	37	chr5	36111350	36111350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgagcagattcaaacaacGggttcccaaactaataaaag	18	6	7	10	2	1	1	1	0	0	1	2	2	2	1	2	1	4	2	2	1	6	4			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:36111350G>A	ENST00000296603.4	-	14	2113	c.1651C>T	c.(1651-1653)Cgt>Tgt	p.R551C		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	551						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAAACAACGGGTTCCCAAA	0.313													16	36					0	0	0	0	A	36111350	G	A	36111350	3	1	324	1	0	0	0	0	1	0	0	0	8898	1116	39	1	456	1	LMBRD2	5	36111350	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	62255	36111350	144803910	48	57578											
PCDHA2	56146	broad.mit.edu	37	chr5	140176624	140176624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccgcgggctcagaggctaCgctggtggatgtcaacgtgt	6	8	16	11	5	2	1	2	0	0	1	2	2	2	2	1	4	2	3	1	4	2	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140176624C>T	ENST00000526136.1	+	1	2075	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.T692M|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.T692M	NM_018905.2	NP_061728.1												p.T692M(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGGCTACGCTGGTGGAT	0.647													41	97					0	0	0	0	T	140176624	C	T	140176624	3	4	324	1	0	0	0	0	1	0	0	0	11595	536	19	1	2077	1	PCDHA2	5	140176624	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	104065274	140176624	40738636	49	57579											
PCDHA7	56141	broad.mit.edu	37	chr5	140215817	140215817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttgcaaccggtggcggccGgtgcgagcatcccgttccgc	5	7	15	14	6	0	0	0	0	0	0	2	1	2	0	4	4	4	4	4	4	1	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140215817G>A	ENST00000525929.1	+	1	1849	c.1849G>A	c.(1849-1851)Ggt>Agt	p.G617S	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G617S	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGGCCGGTGCGAGCAT	0.642													28	41					0	0	0	0	A	140215817	G	A	140215817	3	1	324	1	0	0	0	0	1	0	0	0	11600	1116	39	1	1851	1	PCDHA7	5	140215817	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	39193	140215817	40699443	50	57580											
PCDHB1	29930	broad.mit.edu	37	chr5	140431883	140431883	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgagggcaccaacaaagcGataacttactctttagctca	14	8	8	11	2	2	0	1	0	1	0	2	3	2	0	1	1	5	2	1	1	5	4			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140431883G>T	ENST00000306549.3	+	1	905	c.828G>T	c.(826-828)gcG>gcT	p.A276A		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		276	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAACAAAGCGATAACTTACT	0.507													7	31					0.00198382	0.00202995	1	0	T	140431883	G	T	140431883	2	4	324	1	0	0	0	0	0	0	0	1	11605	1045	37	3		3	PCDHB1	5	140431883	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	216066	140431883	40483377	51	57581											
PCDHB7	56129	broad.mit.edu	37	chr5	140554402	140554402	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacgctgcacgtgctcctGgtggacggcttctcccagcc	4	8	12	17	3	1	0	0	0	1	0	3	1	2	1	4	3	3	4	4	3	0	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140554402G>T	ENST00000231137.3	+	1	2160	c.1986G>T	c.(1984-1986)ctG>ctT	p.L662L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		662	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGTGCTCCTGGTGGACGGCT	0.701													15	54					1.33834e-09	1.44508e-09	1	0	T	140554402	G	T	140554402	2	4	324	1	0	0	0	0	0	0	0	1	11618	1335	47	4		4	PCDHB7	5	140554402	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	122519	140554402	40360858	52	57582											
PCDHB12	56124	broad.mit.edu	37	chr5	140590512	140590512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcccggaggcggcccCggcccaggcccaggccgact	4	3	14	20	4	1	0	0	0	1	0	2	2	1	1	7	6	0	0	7	6	0	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140590512C>T	ENST00000239450.2	+	1	2222	c.2033C>T	c.(2032-2034)cCg>cTg	p.P678L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P341L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		678					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCGGCCCCGGCCCAGGCC	0.692													11	148					0	0	0	0	T	140590512	C	T	140590512	3	4	324	1	0	0	0	0	1	0	0	0	11608	652	23	1	2035	1	PCDHB12	5	140590512	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	36110	140590512	40324748	53	57583											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171849445	171849445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaaaaaacttgctgtagCgccggtaaatggcctcggtg	10	9	13	9	3	1	0	1	0	0	0	2	0	1	0	2	4	3	3	2	4	6	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:171849445C>T	ENST00000311601.5	-	2	301	c.131G>A	c.(130-132)cGc>cAc	p.R44H	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.R44H	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	44	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTGCTGTAGCGCCGGTAAAT	0.517													6	11					0	0	0	0	T	171849445	C	T	171849445	3	4	324	1	0	0	0	0	1	0	0	0	14345	768	27	1	2652	1	SH3PXD2B	5	171849445	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	31258933	171849445	9065815	54	57584											
IRF4	3662	broad.mit.edu	37	chr6	407576	407576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattaccacagatctatccGccattcctctattcaagaat	13	12	4	12	1	3	3	1	0	2	3	5	3	5	3	4	0	1	0	4	0	5	5			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr6:407576G>A	ENST00000380956.4	+	9	1460	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	445					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AGATCTATCCGCCATTCCTCT	0.373			T	IGH@	MM								21	49					0	0	0	0	A	407576	G	A	407576	3	1	324	1	0	0	0	0	1	0	0	0	7885	1087	38	1	1364	1	IRF4	6	407576	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08		407576	170707491	55	57585											
F13A1	2162	broad.mit.edu	37	chr6	6266932	6266932	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagactggatggacagccGcacagacctgtcctctctca	10	7	11	13	1	2	2	1	0	1	2	4	5	3	5	3	3	1	1	3	3	1	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr6:6266932G>T	ENST00000264870.3	-	4	695	c.430C>A	c.(430-432)Cgg>Agg	p.R144R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	144					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)	ATGGACAGCCGCACAGACCTG	0.512													20	43					3.99206e-14	4.39126e-14	1	0	T	6266932	G	T	6266932	2	4	324	1	0	0	0	0	0	0	0	1	5378	1086	38	3		3	F13A1	6	6266932	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	5859356	6266932	164848135	56	57586											
DNAH8	1769	broad.mit.edu	37	chr6	38951989	38951989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttttaataaagggtgtatCatggaatacggttcggtaca	13	13	10	5	2	1	0	1	0	0	0	2	1	1	1	0	4	2	3	0	4	7	7			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr6:38951989C>T	ENST00000359357.3	+	85	12562	c.12308C>T	c.(12307-12309)tCa>tTa	p.S4103L	DNAH8_ENST00000441566.1_Missense_Mutation_p.S4067L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGGGTGTATCATGGAATACG	0.373													11	45					0	0	0	0	T	38951989	C	T	38951989	3	4	324	1	0	0	0	0	1	0	0	0	4643	838	29	2	12638	2	DNAH8	6	38951989	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	32685057	38951989	132163078	57	57587											
DST	667	broad.mit.edu	37	chr6	56471961	56471961	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgcaattcccagaaactGgtcttgaaatttttctccta	11	14	6	10	0	2	2	0	1	2	1	4	2	3	2	2	1	3	2	2	1	4	5			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr6:56471961G>A	ENST00000370754.5	-	39	7365	c.7366C>T	c.(7366-7368)Cag>Tag	p.Q2456*	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Nonsense_Mutation_p.Q2278*|DST_ENST00000312431.6_Nonsense_Mutation_p.Q2278*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q1952*|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Nonsense_Mutation_p.Q2278*			Q03001	DYST_HUMAN	dystonin	2278					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.Q2278K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCAGAAACTGGTCTTGAAAT	0.383													12	41					0	0	0	0	A	56471961	G	A	56471961	4	1	324	1	0	0	0	0	0	1	0	0	4819	1363	47	4		4	DST	6	56471961	Nonsense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	17519972	56471961	114643106	58	57588											
PAPOLB	56903	broad.mit.edu	37	chr7	4901062	4901062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaggtgaaaaagtcgcttCgatccacatgacttggtgca	12	10	11	8	2	0	3	0	3	0	0	3	4	1	3	1	2	1	2	1	2	2	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:4901062C>T	ENST00000404991.1	-	1	563	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	126					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAAGTCGCTTCGATCCACATG	0.438													13	36					0	0	0	0	T	4901062	C	T	4901062	3	4	324	1	0	0	0	0	1	0	0	0	11501	884	31	1	1537	1	PAPOLB	7	4901062	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08		4901062	154237601	59	57589											
NXPH1	30010	broad.mit.edu	37	chr7	8790658	8790658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcacatgtgccaatttaacGaacggtggaaagtcagaact	14	9	10	8	2	2	1	2	0	0	1	2	3	2	2	1	2	4	0	1	2	5	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:8790658G>A	ENST00000405863.1	+	3	986	c.75G>A	c.(73-75)acG>acA	p.T25T	NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	25	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCAATTTAACGAACGGTGGAA	0.423													69	71					0	0	0	0	A	8790658	G	A	8790658	2	1	324	1	0	0	0	0	0	0	0	1	10861	1045	37	1		1	NXPH1	7	8790658	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	3889596	8790658	150348005	60	57590											
DNAH11	8701	broad.mit.edu	37	chr7	21730399	21730399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtagatttgtatttcttgggGaagctatcacactgaagcca	11	13	10	7	0	2	2	1	1	1	1	2	3	2	3	1	2	2	3	1	2	5	6			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:21730399G>A	ENST00000328843.6	+	36	5993	c.5962G>A	c.(5962-5964)Gaa>Aaa	p.E1988K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E1981K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1988	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTTCTTGGGGAAGCTATCAC	0.363									Kartagener syndrome				48	194					0	0	0	0	A	21730399	G	A	21730399	3	1	324	1	0	0	0	0	1	0	0	0	4636	1175	41	2	6101	2	DNAH11	7	21730399	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	12939741	21730399	137408264	61	57591											
TRA2A	29896	broad.mit.edu	37	chr7	23561437	23561437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggagttcccgttggaGattttgactgagagcgagac	10	9	15	7	2	0	4	0	2	0	3	1	9	1	5	1	2	2	3	1	2	0	4			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:23561437G>T	ENST00000297071.4	-	2	275	c.59C>A	c.(58-60)tCt>tAt	p.S20Y	TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	20					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TCCCGTTGGAGATTTTGACTG	0.433													17	89					5.3912e-06	5.64793e-06	1	0	T	23561437	G	T	23561437	3	4	324	1	0	0	0	0	1	0	0	0	16528	942	33	2	817	2	TRA2A	7	23561437	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	1831038	23561437	135577226	62	57592											
ZNF713	349075	broad.mit.edu	37	chr7	56007358	56007358	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcagcattcatcctttactCaacatctgaggattcatact	11	14	5	11	0	5	1	4	1	1	0	6	2	6	2	1	1	4	1	1	1	3	5			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:56007358C>T	ENST00000429591.2	+	4	990	c.952C>T	c.(952-954)Caa>Taa	p.Q318*	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCCTTTACTCAACATCTGAG	0.398													39	147					0	0	0	0	T	56007358	C	T	56007358	4	4	324	1	0	0	0	0	0	1	0	0	18212	827	29	2	966	2	ZNF713	7	56007358	Nonsense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	32445921	56007358	103131305	63	57593											
CCT6A	908	broad.mit.edu	37	chr7	56120139	56120139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttctggcgctggagacatCaaacttactaaagacggcaa	13	9	10	9	2	2	2	1	0	1	2	2	3	2	2	0	3	2	3	0	3	5	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:56120139C>T	ENST00000275603.4	+	2	381	c.162C>T	c.(160-162)atC>atT	p.I54I	CCT6A_ENST00000540286.1_Silent_p.I23I|CCT6A_ENST00000335503.3_Silent_p.I54I	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	54					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGAGACATCAAACTTACTA	0.423													48	88					0	0	0	0	T	56120139	C	T	56120139	2	4	324	1	0	0	0	0	0	0	0	1	2986	816	29	2		2	CCT6A	7	56120139	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	112781	56120139	103018524	64	57594											
ELN	2006	broad.mit.edu	37	chr7	73477973	73477973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctagtgggagccgctgggctCggaggactcggagtcggagg	6	6	20	9	4	0	0	0	0	0	0	3	5	0	5	1	7	1	2	1	7	1	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:73477973C>T	ENST00000252034.7	+	29	2340	c.1941C>T	c.(1939-1941)ctC>ctT	p.L647L	ELN_ENST00000429192.1_Silent_p.L633L|ELN_ENST00000358929.4_Silent_p.L715L|ELN_ENST00000380576.5_Silent_p.L628L|ELN_ENST00000414324.1_Silent_p.L623L|ELN_ENST00000380553.4_Silent_p.L511L|ELN_ENST00000357036.5_Silent_p.L652L|ELN_ENST00000445912.1_Silent_p.L647L|ELN_ENST00000380562.4_Silent_p.L653L|ELN_ENST00000380584.4_Silent_p.L599L|ELN_ENST00000320492.7_Silent_p.L566L|ELN_ENST00000320399.6_Silent_p.L680L|ELN_ENST00000458204.1_Silent_p.L637L|ELN_ENST00000380575.4_Silent_p.L618L	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	709	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCGCTGGGCTCGGAGGACTCG	0.602			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						58	86					0	0	0	0	T	73477973	C	T	73477973	2	4	324	1	0	0	0	0	0	0	0	1	5109	871	31	1		1	ELN	7	73477973	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	17357834	73477973	85660690	65	57595											
CACNA2D1	781	broad.mit.edu	37	chr7	81620503	81620503	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaatacagttaattacctGtaatctgtgccattgacagg	14	13	7	7	0	1	1	0	1	1	0	1	1	1	1	2	1	3	2	2	1	6	6			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:81620503G>C	ENST00000356860.3	-	21	2132	c.1794C>G	c.(1792-1794)taC>taG	p.Y598*	CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.Y617*	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	617						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTAATTACCTGTAATCTGTGC	0.308													17	32					0	0	0	0	C	81620503	G	C	81620503	4	2	324	1	0	0	0	0	0	1	0	0	2573	1372	48	4	1557	4	CACNA2D1	7	81620503	Nonsense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	8142530	81620503	77518160	66	57596											
DNAJB9	4189	broad.mit.edu	37	chr7	108213555	108213555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaatcatttccagacaCgccaggatggtggttccagt	11	11	10	9	1	1	2	1	1	0	1	3	3	3	3	3	3	0	1	3	3	2	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:108213555C>T	ENST00000249356.3	+	3	976	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	144					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	p.R144C(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TTTCCAGACACGCCAGGATGG	0.348													21	62					0	0	0	0	T	108213555	C	T	108213555	3	4	324	1	0	0	0	0	1	0	0	0	4663	536	19	1	436	1	DNAJB9	7	108213555	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	26593052	108213555	50925108	67	57597											
FEZF1	389549	broad.mit.edu	37	chr7	121943848	121943848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acaggtctttgaaagctactCcagaagggtatttctccacc	11	11	8	11	0	2	2	0	1	2	1	4	2	3	2	3	2	2	2	3	2	4	4			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:121943848C>G	ENST00000442488.2	-	1	711	c.644G>C	c.(643-645)gGa>gCa	p.G215A	FEZF1_ENST00000331178.4_Missense_Mutation_p.G215A|FEZF1_ENST00000427185.2_Missense_Mutation_p.G165A|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	215					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GAAAGCTACTCCAGAAGGGTA	0.507													23	55					0	0	0	0	G	121943848	C	G	121943848	3	3	324	1	0	0	0	0	1	0	0	0	5870	855	30	2	799	2	FEZF1	7	121943848	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	13730293	121943848	37194815	68	57598											
SPAM1	6677	broad.mit.edu	37	chr7	123593871	123593871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaagcccccgaataaacGccaccgggcaaggtgttaca	13	5	11	12	3	0	0	0	0	0	0	0	2	0	1	4	3	3	2	4	3	7	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:123593871G>A	ENST00000340011.5	+	3	604	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	SPAM1_ENST00000402183.2_Missense_Mutation_p.A83T|SPAM1_ENST00000223028.7_Missense_Mutation_p.A83T|SPAM1_ENST00000439500.1_Missense_Mutation_p.A83T|SPAM1_ENST00000460182.1_Missense_Mutation_p.A83T	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	83					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CCGAATAAACGCCACCGGGCA	0.443													26	33					0	0	0	0	A	123593871	G	A	123593871	3	1	324	1	0	0	0	0	1	0	0	0	15076	1087	38	1	249	1	SPAM1	7	123593871	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	1650023	123593871	35544792	69	57599											
ZNF800	168850	broad.mit.edu	37	chr7	127014179	127014179	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caactttaacttttatttctGaactgttggcagtattatta	11	19	5	6	0	1	1	0	1	1	0	1	1	1	1	0	1	3	3	0	1	7	9			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:127014179G>C	ENST00000393313.1	-	5	1802	c.1211C>G	c.(1210-1212)tCa>tGa	p.S404*	ZNF800_ENST00000393312.1_Nonsense_Mutation_p.S404*|ZNF800_ENST00000265827.3_Nonsense_Mutation_p.S404*			Q2TB10	ZN800_HUMAN	zinc finger protein 800	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTTTATTTCTGAACTGTTGGC	0.348													30	64					0	0	0	0	C	127014179	G	C	127014179	4	2	324	1	0	0	0	0	0	1	0	0	18262	1294	45	2	791	2	ZNF800	7	127014179	Nonsense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	3420308	127014179	32124484	70	57600											
WEE2	494551	broad.mit.edu	37	chr7	141418927	141418927	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaaaaagaattcttggAggttgaaaaaattggggttg	15	12	12	2	0	1	3	0	2	1	1	1	4	1	4	0	4	0	2	0	4	7	6			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:141418927A>T	ENST00000397541.2	+	4	1047	c.641A>T	c.(640-642)gAg>gTg	p.E214V	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	214	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GAATTCTTGGAGGTTGAAAAA	0.353													60	52					0	0	0	0	T	141418927	A	T	141418927	3	4	324	1	0	0	0	0	1	0	0	0	17441	304	11	5	655	5	WEE2	7	141418927	Missense_Mutation	SNP	A	TCGA-CV-7437-01A-21D-2129-08	14404748	141418927	17719736	71	57601											
MGAM	8972	broad.mit.edu	37	chr7	141721402	141721402	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagttgactgaccaaaccaAtaacaggtttgaagtgcccc	14	8	8	11	0	0	3	0	3	0	0	0	3	0	3	4	1	3	2	4	1	4	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:141721402A>C	ENST00000475668.2	+	6	629	c.575A>C	c.(574-576)aAt>aCt	p.N192T	MGAM_ENST00000549489.2_Missense_Mutation_p.N192T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	192					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACCAAACCAATAACAGGTTT	0.433													10	33					0	0	0	0	C	141721402	A	C	141721402	3	2	324	1	0	0	0	0	1	0	0	0	9610	101	4	5	593	5	MGAM	7	141721402	Missense_Mutation	SNP	A	TCGA-CV-7437-01A-21D-2129-08	302475	141721402	17417261	72	57602											
GIMAP8	155038	broad.mit.edu	37	chr7	150174742	150174742	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaaaggtcaatgatctGagaaaagaaagtgggtggtc	16	9	12	4	0	2	3	1	2	1	2	3	4	2	3	0	3	1	0	0	3	6	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:150174742G>T	ENST00000307271.3	+	5	2446	c.1872G>T	c.(1870-1872)ctG>ctT	p.L624L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	624						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCAATGATCTGAGAAAAGAAA	0.443													25	103					2.44723e-14	2.70888e-14	1	0	T	150174742	G	T	150174742	2	4	324	1	0	0	0	0	0	0	0	1	6436	1277	45	2		2	GIMAP8	7	150174742	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	8453340	150174742	8963921	73	57603											
TNKS	8658	broad.mit.edu	37	chr8	9588487	9588487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagcaggctacaaccgcGtgtctgttgtagagtacctg	8	10	12	11	3	1	1	0	0	1	1	2	1	1	1	2	1	4	6	2	1	4	4			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:9588487G>A	ENST00000310430.6	+	14	2115	c.2089G>A	c.(2089-2091)Gtg>Atg	p.V697M	TNKS_ENST00000518281.1_Missense_Mutation_p.V460M	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	697					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CTACAACCGCGTGTCTGTTGT	0.502													33	6					0	0	0	0	A	9588487	G	A	9588487	3	1	324	1	0	0	0	0	1	0	0	0	16413	1145	40	1	2143	1	TNKS	8	9588487	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08		9588487	136775535	74	57604											
FDFT1	2222	broad.mit.edu	37	chr8	11660408	11660408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgcgcttccggatcgggGgcaagcggaaggtgatgccc	6	7	18	10	4	0	1	0	1	0	0	2	3	1	3	2	6	3	2	2	6	2	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:11660408G>A	ENST00000220584.4	+	1	289	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	FDFT1_ENST00000525900.1_Missense_Mutation_p.G23S|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000538689.1_Intron|FDFT1_ENST00000443614.2_Missense_Mutation_p.G23S	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	23					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCGGATCGGGGGCAAGCGGAA	0.692													4	15					0	0	0	0	A	11660408	G	A	11660408	3	1	324	1	0	0	0	0	1	0	0	0	5847	1232	43	4	69	4	FDFT1	8	11660408	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	2071921	11660408	134703614	75	57605											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864371	22864371	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtctttgacaacgccatcCgagctgcactcatctcccgc	8	9	7	17	4	3	1	1	1	2	0	5	2	4	1	3	0	3	2	3	0	1	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:22864371C>T	ENST00000251822.6	+	5	1150	c.613C>T	c.(613-615)Cga>Tga	p.R205*	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Nonsense_Mutation_p.R227*|RHOBTB2_ENST00000522948.1_Nonsense_Mutation_p.R212*|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	205	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAACGCCATCCGAGCTGCACT	0.632													29	56					0	0	0	0	T	22864371	C	T	22864371	4	4	324	1	0	0	0	0	0	1	0	0	13417	644	23	1	712	1	RHOBTB2	8	22864371	Nonsense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	11203963	22864371	123499651	76	57606											
TNFRSF10A	8797	broad.mit.edu	37	chr8	23082438	23082438	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcccccgcctcgtggtTcaatcctccccgcggaagag	5	7	11	18	5	1	1	1	0	0	1	5	2	3	2	6	3	0	1	6	3	2	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr8:23082438T>C	ENST00000221132.3	-	1	201	c.137A>G	c.(136-138)gAa>gGa	p.E46G	RP11-1149O23.3_ENST00000517774.1_RNA	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	46					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GCCTCGTGGTTCAATCCTCCC	0.726													3	1					0	0	0	0	C	23082438	T	C	23082438	3	2	324	1	0	0	0	0	1	0	0	0	16374	1783	62	5	1309	5	TNFRSF10A	8	23082438	Missense_Mutation	SNP	T	TCGA-CV-7437-01A-21D-2129-08	218067	23082438	123281584	77	57607											
LETM2	137994	broad.mit.edu	37	chr8	38264944	38264944	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccatcaacacctatttCattacctaaaggacccatca	16	9	2	14	0	3	0	3	0	0	0	3	1	3	1	4	1	3	0	4	1	6	4			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:38264944C>A	ENST00000379957.4	+	10	1503	c.1376C>A	c.(1375-1377)tCa>tAa	p.S459*	LETM2_ENST00000527710.1_Nonsense_Mutation_p.S245*|LETM2_ENST00000524874.1_Nonsense_Mutation_p.S411*|LETM2_ENST00000523983.2_Nonsense_Mutation_p.S412*|LETM2_ENST00000297720.5_Nonsense_Mutation_p.S364*	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	459						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			ACACCTATTTCATTACCTAAA	0.378													30	89					3.1745e-13	3.47026e-13	1	0	A	38264944	C	A	38264944	4	1	324	1	0	0	0	0	0	1	0	0	8788	838	29	2	1117	2	LETM2	8	38264944	Nonsense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	15182506	38264944	108099078	78	57608											
PXDNL	137902	broad.mit.edu	37	chr8	52321226	52321226	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtgggggttcagggcGgacagctccgtggccatcct	5	8	15	13	2	1	0	1	0	0	0	4	1	4	1	4	5	1	2	4	5	0	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:52321226G>A	ENST00000356297.4	-	17	3058	c.2958C>T	c.(2956-2958)tcC>tcT	p.S986S	PXDNL_ENST00000543296.1_Silent_p.S986S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	986					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTTCAGGGCGGACAGCTCCG	0.642													4	5					0	0	0	0	A	52321226	G	A	52321226	2	1	324	1	0	0	0	0	0	0	0	1	12930	1103	39	1		1	PXDNL	8	52321226	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	14056282	52321226	94042796	79	57609											
TOX	9760	broad.mit.edu	37	chr8	59764139	59764139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggatggtgaaggagttgCagacttgcttccaggtggag	9	10	16	6	0	0	2	0	1	0	1	1	5	1	5	1	5	2	3	1	5	1	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:59764139C>T	ENST00000361421.1	-	4	857	c.637G>A	c.(637-639)Gca>Aca	p.A213T		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	213						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GAAGGAGTTGCAGACTTGCTT	0.438													15	79					0	0	0	0	T	59764139	C	T	59764139	3	4	324	1	0	0	0	0	1	0	0	0	16472	710	25	4	967	4	TOX	8	59764139	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	7442913	59764139	86599883	80	57610											
KCNB2	9312	broad.mit.edu	37	chr8	73849229	73849229	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagatgctatacaatgaaAtcaccaagacacagcctcat	16	8	7	10	0	2	3	2	1	0	2	2	4	2	3	2	1	3	1	2	1	5	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:73849229A>G	ENST00000523207.1	+	3	2227	c.1639A>G	c.(1639-1641)Atc>Gtc	p.I547V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	547					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ATACAATGAAATCACCAAGAC	0.488													23	88					0	0	0	0	G	73849229	A	G	73849229	3	3	324	1	0	0	0	0	1	0	0	0	8066	101	4	5	1645	5	KCNB2	8	73849229	Missense_Mutation	SNP	A	TCGA-CV-7437-01A-21D-2129-08	14085090	73849229	72514793	81	57611											
CNGB3	54714	broad.mit.edu	37	chr8	87660048	87660048	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttaacatcctatttgctCtaaacattggattaaaccca	13	14	3	11	0	1	0	0	0	1	0	2	1	2	1	3	1	4	1	3	1	6	7			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:87660048C>G	ENST00000320005.5	-	8	1018	c.971G>C	c.(970-972)aGa>aCa	p.R324T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	324					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCTATTTGCTCTAAACATTGG	0.294													26	114					0	0	0	0	G	87660048	C	G	87660048	3	3	324	1	0	0	0	0	1	0	0	0	3631	913	32	2	1502	2	CNGB3	8	87660048	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	13810819	87660048	58703974	82	57612											
SLC45A4	57210	broad.mit.edu	37	chr8	142229896	142229896	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtgagcacgatgccaatggGctgccggttggggacatcgc	7	7	16	11	4	0	1	0	1	0	0	1	3	0	2	2	4	3	3	2	4	1	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr8:142229896G>C	ENST00000519067.1	-	3	613	c.310C>G	c.(310-312)Ccc>Gcc	p.P104A	SLC45A4_ENST00000517878.1_Missense_Mutation_p.P155A|SLC45A4_ENST00000024061.3_Missense_Mutation_p.P104A|SLC45A4_ENST00000433583.2_Missense_Mutation_p.P97A			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	155					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ATGCCAATGGGCTGCCGGTTG	0.662													6	5					0	0	0	0	C	142229896	G	C	142229896	3	2	324	1	0	0	0	0	1	0	0	0	14731	1203	42	4	2110	4	SLC45A4	8	142229896	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	54569848	142229896	4134126	83	57613											
IFNK	56832	broad.mit.edu	37	chr9	27524569	27524569	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgcaatacacccaacctAtgaagagggacatcaagaag	16	7	8	10	0	2	3	1	1	1	2	2	4	2	4	2	1	3	1	2	1	7	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:27524569A>G	ENST00000276943.2	+	1	258	c.235A>G	c.(235-237)Atg>Gtg	p.M79V	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	79					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		CACCCAACCTATGAAGAGGGA	0.423													32	82					0	0	0	0	G	27524569	A	G	27524569	3	3	324	1	0	0	0	0	1	0	0	0	7604	449	16	5	237	5	IFNK	9	27524569	Missense_Mutation	SNP	A	TCGA-CV-7437-01A-21D-2129-08		27524569	113688862	84	57614											
ALDH1B1	219	broad.mit.edu	37	chr9	38396909	38396909	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaactcctctgtggcggAgagcgtttcggggagcgtgg	7	8	17	9	4	1	1	0	0	1	1	3	3	2	2	1	5	3	2	1	5	2	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr9:38396909A>G	ENST00000377698.3	+	2	1317	c.1164A>G	c.(1162-1164)ggA>ggG	p.G388G		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	388					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TCTGTGGCGGAGAGCGTTTCG	0.562													8	52					0	0	0	0	G	38396909	A	G	38396909	2	3	324	1	0	0	0	0	0	0	0	1	493	291	11	5		5	ALDH1B1	9	38396909	Silent	SNP	A	TCGA-CV-7437-01A-21D-2129-08	10872340	38396909	102816522	85	57615											
PIP5K1B	8395	broad.mit.edu	37	chr9	71532547	71532547	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctcaaagagaaagaggaGgagaccccacaaaatgtgcc	16	4	10	11	0	1	3	1	0	0	3	2	6	2	4	4	2	1	0	4	2	4	0	rs61752951	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:71532547G>A	ENST00000265382.3	+	9	1160	c.855G>A	c.(853-855)gaG>gaA	p.E285E	PIP5K1B_ENST00000541509.1_Silent_p.E285E	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	285	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AGAAAGAGGAGGAGACCCCAC	0.463													10	215					0	0	0	0	A	71532547	G	A	71532547	2	1	324	1	0	0	0	0	0	0	0	1	12012	991	35	4		4	PIP5K1B	9	71532547	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	33135638	71532547	69680884	86	57616											
TRPM3	80036	broad.mit.edu	37	chr9	73151427	73151427	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgagggggaaaacataaaGctatgagatttcacaatggg	15	9	12	5	0	1	2	1	2	0	1	1	4	1	3	0	3	2	1	0	3	6	4			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:73151427G>A	ENST00000377110.2	-	25	4809	c.4566C>T	c.(4564-4566)agC>agT	p.S1522S	TRPM3_ENST00000423814.3_Silent_p.S1549S|TRPM3_ENST00000358082.3_Silent_p.S1384S|TRPM3_ENST00000377105.1_Silent_p.S1381S|TRPM3_ENST00000408909.2_Silent_p.S1381S|TRPM3_ENST00000396280.5_Silent_p.S1371S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Silent_p.S1381S|TRPM3_ENST00000360823.2_Silent_p.S1384S|TRPM3_ENST00000396292.4_Silent_p.S1394S|TRPM3_ENST00000377106.1_Silent_p.S1394S|TRPM3_ENST00000357533.2_Silent_p.S1526S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1547						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAAACATAAAGCTATGAGATT	0.458													59	30					0	0	0	0	A	73151427	G	A	73151427	2	1	324	1	0	0	0	0	0	0	0	1	16682	962	34	4		4	TRPM3	9	73151427	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	1618880	73151427	68062004	87	57617											
ZNF484	83744	broad.mit.edu	37	chr9	95609196	95609196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgaatctgctgatgtaCgtggagctgtgatttcttag	7	16	13	5	1	2	3	0	3	2	0	2	4	2	4	0	1	3	3	0	1	3	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:95609196C>T	ENST00000395505.2	-	3	1857	c.1765G>A	c.(1765-1767)Gta>Ata	p.V589I	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.V589I|ZNF484_ENST00000375495.3_Missense_Mutation_p.V625I|ZNF484_ENST00000395506.3_Missense_Mutation_p.V627I	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGCTGATGTACGTGGAGCTGT	0.393													25	41					0	0	0	0	T	95609196	C	T	95609196	3	4	324	1	0	0	0	0	1	0	0	0	18032	536	19	1	689	1	ZNF484	9	95609196	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	22457769	95609196	45604235	88	57618											
RAPGEF1	2889	broad.mit.edu	37	chr9	134473675	134473675	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccgactgagccgactccaGagcatctggtgactttgggg	7	9	13	12	2	1	3	0	2	1	1	3	5	3	3	3	3	2	1	3	3	0	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:134473675G>C	ENST00000372195.1	-	13	2260	c.2017C>G	c.(2017-2019)Ctg>Gtg	p.L673V	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.L656V|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.L674V			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	656					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCCGACTCCAGAGCATCTGGT	0.582													10	16					0	0	0	0	C	134473675	G	C	134473675	3	2	324	1	0	0	0	0	1	0	0	0	13125	933	33	2	1315	2	RAPGEF1	9	134473675	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	38864479	134473675	6739756	89	57619											
LARP4B	23185	broad.mit.edu	37	chr10	931622	931622	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggactctctgcgtctGcggttcagccacaaccttag	6	11	9	15	2	3	0	1	0	2	0	5	1	4	1	3	2	4	1	3	2	2	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:931622G>A	ENST00000316157.3	-	1	80	c.40C>T	c.(40-42)Cag>Tag	p.Q14*		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	14							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTCTGCGTCTGCGGTTCAGCC	0.512													26	45					0	0	0	0	A	931622	G	A	931622	4	1	324	1	0	0	0	0	0	1	0	0	8684	1328	46	4	2244	4	LARP4B	10	931622	Nonsense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08		931622	134603125	90	57620											
SLC39A12	221074	broad.mit.edu	37	chr10	18280093	18280093	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaggttcttggtttacAtaagcaggaagccccagaat	12	10	10	9	0	1	2	0	1	1	1	1	3	1	3	3	3	3	3	3	3	5	5			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:18280093A>T	ENST00000377369.2	+	8	1556	c.1283A>T	c.(1282-1284)cAt>cTt	p.H428L	SLC39A12_ENST00000377371.3_Missense_Mutation_p.H428L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.H428L|SLC39A12_ENST00000539911.1_Missense_Mutation_p.H294L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	428					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CTTGGTTTACATAAGCAGGAA	0.373													11	42					0	0	0	0	T	18280093	A	T	18280093	3	4	324	1	0	0	0	0	1	0	0	0	14703	217	8	5	1309	5	SLC39A12	10	18280093	Missense_Mutation	SNP	A	TCGA-CV-7437-01A-21D-2129-08	17348471	18280093	117254654	91	57621											
OR13A1	79290	broad.mit.edu	37	chr10	45799805	45799805	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcggttaccaacgtctggttActcatcatccttgggctggg	6	13	11	11	2	3	0	2	0	1	0	5	0	4	0	2	4	3	3	2	4	3	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:45799805A>G	ENST00000553795.1	-	4	374	c.66T>C	c.(64-66)agT>agC	p.S22S	OR13A1_ENST00000536058.1_Silent_p.S22S|OR13A1_ENST00000374401.2_Silent_p.S22S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						ACGTCTGGTTACTCATCATCC	0.502													23	60					0	0	0	0	G	45799805	A	G	45799805	2	3	324	1	0	0	0	0	0	0	0	1	11004	388	14	5		5	OR13A1	10	45799805	Silent	SNP	A	TCGA-CV-7437-01A-21D-2129-08	27519712	45799805	89734942	92	57622											
TMEM26	219623	broad.mit.edu	37	chr10	63170317	63170317	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacgaggaagttcttcgcGgcaaagaacaccagcatctg	13	6	10	12	3	2	1	0	0	2	1	3	3	2	2	2	2	2	3	2	2	3	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:63170317G>A	ENST00000399298.3	-	6	1238	c.870C>T	c.(868-870)gcC>gcT	p.A290A	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	290						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGTTCTTCGCGGCAAAGAACA	0.507													3	46					0	0	0	0	A	63170317	G	A	63170317	2	1	324	1	0	0	0	0	0	0	0	1	16245	1103	39	1		1	TMEM26	10	63170317	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	17370512	63170317	72364430	93	57623											
RTKN2	219790	broad.mit.edu	37	chr10	64022543	64022543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatattccttctcgcattCgaatttctaagtctattttt	8	20	3	10	2	3	0	0	0	3	0	7	1	5	0	2	0	0	1	2	0	4	9			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:64022543C>T	ENST00000373789.3	-	2	194	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	RTKN2_ENST00000395265.1_Missense_Mutation_p.R33Q|RTKN2_ENST00000395260.3_Missense_Mutation_p.R33Q	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	33					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TTCTCGCATTCGAATTTCTAA	0.333													7	26					0	0	0	0	T	64022543	C	T	64022543	3	4	324	1	0	0	0	0	1	0	0	0	13808	884	31	1	1775	1	RTKN2	10	64022543	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	852226	64022543	71512204	94	57624											
CDH23	64072	broad.mit.edu	37	chr10	73545397	73545397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcccagacagggatcGtcactgtgaaccggcccctg	9	6	10	16	2	1	2	1	1	0	1	3	3	2	3	5	2	1	0	5	2	1	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:73545397G>A	ENST00000224721.6	+	43	5742	c.5737G>A	c.(5737-5739)Gtc>Atc	p.V1913I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1908	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACAGGGATCGTCACTGTGAA	0.582													3	4					0	0	0	0	A	73545397	G	A	73545397	3	1	324	1	0	0	0	0	1	0	0	0	3137	1145	40	1	6237	1	CDH23	10	73545397	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	9522854	73545397	61989350	95	57625											
C10orf12	26148	broad.mit.edu	37	chr10	98742657	98742657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaattccctgaggcctctGataggtgcctaagaagtcaa	14	9	9	9	0	2	3	1	2	1	1	3	3	3	3	3	2	1	0	3	2	6	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:98742657G>A	ENST00000286067.2	+	1	1617	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	504										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGAGGCCTCTGATAGGTGCCT	0.398													32	62					0	0	0	0	A	98742657	G	A	98742657	3	1	324	1	0	0	0	0	1	0	0	0	1599	1290	45	2	1512	2	C10orf12	10	98742657	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	25197260	98742657	36792090	96	57626											
CHST15	51363	broad.mit.edu	37	chr10	125771991	125771991	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcatagagcccaacctggagCctcacctaggaccacagaag	13	4	10	14	0	1	2	1	0	0	2	1	4	1	4	5	2	3	1	5	2	4	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:125771991C>G	ENST00000346248.5	-	7	1995	c.1353G>C	c.(1351-1353)agG>agC	p.R451S	CHST15_ENST00000435907.1_Missense_Mutation_p.R451S	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	451					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CAACCTGGAGCCTCACCTAGG	0.493													8	18					0	0	0	0	G	125771991	C	G	125771991	3	3	324	1	0	0	0	0	1	0	0	0	3432	738	26	4	340	4	CHST15	10	125771991	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	27029334	125771991	9762756	97	57627											
OR52N1	79473	broad.mit.edu	37	chr11	5809550	5809550	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgcagtatggaaggcgcTtggtgaggaaagtggaaggg	10	8	18	5	1	0	1	0	1	0	0	0	4	0	4	1	6	1	3	1	6	4	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:5809550T>C	ENST00000317078.1	-	1	496	c.497A>G	c.(496-498)aAg>aGg	p.K166R	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGGAAGGCGCTTGGTGAGGAA	0.488													15	32					0	0	0	0	C	5809550	T	C	5809550	3	2	324	1	0	0	0	0	1	0	0	0	11198	1609	56	5	468	5	OR52N1	11	5809550	Missense_Mutation	SNP	T	TCGA-CV-7437-01A-21D-2129-08		5809550	129196966	98	57628											
DKK3	27122	broad.mit.edu	37	chr11	12030045	12030045	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggcttgactggagccgAggtcgccgtcggagcgggcg	4	5	20	12	7	0	1	0	1	0	0	2	4	0	3	3	5	2	1	3	5	0	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:12030045A>T	ENST00000396505.2	-	2	323	c.85T>A	c.(85-87)Tcg>Acg	p.S29T	DKK3_ENST00000326932.4_Missense_Mutation_p.S29T|DKK3_ENST00000527132.1_5'UTR|DKK3_ENST00000450094.2_Missense_Mutation_p.S29T|DKK3_ENST00000525493.1_Missense_Mutation_p.S29T	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	29	O-glycosylated at one site.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		ACTGGAGCCGAGGTCGCCGTC	0.716													3	13					0	0	0	0	T	12030045	A	T	12030045	3	4	324	1	0	0	0	0	1	0	0	0	4583	304	11	5	995	5	DKK3	11	12030045	Missense_Mutation	SNP	A	TCGA-CV-7437-01A-21D-2129-08	6220495	12030045	122976471	99	57629											
COPB1	1315	broad.mit.edu	37	chr11	14504607	14504607	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgttcatgagcaggatgctCttttaattctatcaagcgat	10	15	8	8	2	4	1	2	1	2	0	5	3	4	2	0	1	3	3	0	1	3	5			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:14504607C>G	ENST00000249923.3	-	8	1228	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	COPB1_ENST00000439561.2_Missense_Mutation_p.E310Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	310					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GCAGGATGCTCTTTTAATTCT	0.333													27	5					0	0	0	0	G	14504607	C	G	14504607	3	3	324	1	0	0	0	0	1	0	0	0	3758	922	32	2	1993	2	COPB1	11	14504607	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	2474562	14504607	120501909	100	57630											
EXT2	2132	broad.mit.edu	37	chr11	44146485	44146485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagggtgtcctttctgtccGtaagcgctgccacaagcacc	8	9	11	13	2	1	1	0	0	1	1	3	1	3	1	4	1	3	3	4	1	2	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:44146485G>A	ENST00000395673.3	+	5	1045	c.989G>A	c.(988-990)cGt>cAt	p.R330H	EXT2_ENST00000343631.3_Missense_Mutation_p.R297H|EXT2_ENST00000358681.4_Missense_Mutation_p.R297H|EXT2_ENST00000533608.1_Missense_Mutation_p.R297H	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	297					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTTTCTGTCCGTAAGCGCTGC	0.502			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				19	75					0	0	0	0	A	44146485	G	A	44146485	3	1	324	1	0	0	0	0	1	0	0	0	5362	1145	40	1	1007	1	EXT2	11	44146485	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	29641878	44146485	90860031	101	57631											
NXF1	10482	broad.mit.edu	37	chr11	62571396	62571396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccatatttccaccggaagGgaccccggcctttcttcttt	7	12	7	15	2	2	0	0	0	2	0	3	2	3	2	6	3	0	0	6	3	2	5			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:62571396G>A	ENST00000531709.2	-	2	196	c.83C>T	c.(82-84)cCc>cTc	p.P28L	NXF1_ENST00000439713.2_Missense_Mutation_p.P28L|NXF1_ENST00000532297.1_Missense_Mutation_p.P28L|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000294172.2_Missense_Mutation_p.P28L	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	28	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCACCGGAAGGGACCCCGGCC	0.473													96	183					0	0	0	0	A	62571396	G	A	62571396	3	1	324	1	0	0	0	0	1	0	0	0	10853	1232	43	4	1911	4	NXF1	11	62571396	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	18424911	62571396	72435120	102	57632											
RASGRP2	10235	broad.mit.edu	37	chr11	64510284	64510284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaaggcttcgatgcaccCgcggagcagctcctccaccg	8	5	11	17	5	0	0	0	0	0	0	3	3	2	1	5	2	3	4	5	2	1	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:64510284C>T	ENST00000377494.1	-	1	977	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	RASGRP2_ENST00000377486.3_Missense_Mutation_p.G19R|RASGRP2_ENST00000377487.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000394428.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000377489.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000394430.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000354024.3_Missense_Mutation_p.G19R|RASGRP2_ENST00000394432.3_Missense_Mutation_p.G19R|RASGRP2_ENST00000377497.3_Missense_Mutation_p.G19R|RASGRP2_ENST00000394429.1_Missense_Mutation_p.G19R			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	19	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCGATGCACCCGCGGAGCAGC	0.731													3	9					0	0	0	0	T	64510284	C	T	64510284	3	4	324	1	0	0	0	0	1	0	0	0	13157	652	23	1	1834	1	RASGRP2	11	64510284	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	1938888	64510284	70496232	103	57633											
POLA2	23649	broad.mit.edu	37	chr11	65064593	65064608	+	Frame_Shift_Del	DEL	TGTCCTCGGCTGTGTC	TGTCCTCGGCTGTGTC	-																															ctctcctctcctccccaggaTgtcctcggctgtgtctgtgt																										TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:65064593_65064608delTGTCCTCGGCTGTGTC	ENST00000265465.3	+	18	2181_2196	c.1650_1665delTGTCCTCGGCTGTGTC	c.(1648-1665)gafs	p.DVLGCV550fs	POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	550					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTCCCCAGGATGTCCTCGGCTGTGTCTGTGTGAACC	0.602													14	103	---	---	---	---					-	65064608	TGTCCTCGGCTGTGTC	-	65064593	7	5	324	1	0	1	0	1	0	0	0	0	12260	1461	51	0	1720	0	POLA2	11	65064593	Frame_Shift_Del	DEL	TGTCCTCGGCTGTGTC	TCGA-CV-7437-01A-21D-2129-08	554309	65064593	69941923	104	57634											
RCE1	9986	broad.mit.edu	37	chr11	66612403	66612403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaaccaagtgatcgcccCgctgacagaggagctggtgt	9	6	15	11	3	0	3	0	2	0	1	1	5	0	5	3	3	2	2	3	3	2	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:66612403C>T	ENST00000309657.3	+	5	559	c.515C>T	c.(514-516)cCg>cTg	p.P172L	RCE1_ENST00000525356.1_Missense_Mutation_p.P49L|RCE1_ENST00000524506.1_Missense_Mutation_p.P172L	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	172					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTGATCGCCCCGCTGACAGAG	0.632													21	10					0	0	0	0	T	66612403	C	T	66612403	3	4	324	1	0	0	0	0	1	0	0	0	13258	652	23	1	533	1	RCE1	11	66612403	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	1547810	66612403	68394113	105	57635											
B3GNT6	192134	broad.mit.edu	37	chr11	76750656	76750656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgcctcctggtgggcGtgagtttcttagcactgcag	4	12	14	11	1	1	1	0	1	1	0	2	1	2	1	3	3	3	3	3	3	1	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:76750656G>A	ENST00000533140.1	+	2	199	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	B3GNT6_ENST00000354301.5_Missense_Mutation_p.V21M|B3GNT6_ENST00000421061.1_Missense_Mutation_p.V21M			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	21					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						CCTGGTGGGCGTGAGTTTCTT	0.657											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	78	37					0	0	0	0	A	76750656	G	A	76750656	3	1	324	1	0	0	0	0	1	0	0	0	1265	1145	40	1	63	1	B3GNT6	11	76750656	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	10138253	76750656	58255860	106	57636											
C1S	716	broad.mit.edu	37	chr12	7169971	7169971	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgtcagagaactgtgcGtatgactcagtgcaggtatg	10	10	14	7	1	2	2	2	1	0	1	2	4	2	2	0	1	4	4	0	1	3	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:7169971G>A	ENST00000406697.1	+	6	826	c.198G>A	c.(196-198)gcG>gcA	p.A66A	C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Silent_p.A66A|C1S_ENST00000328916.3_Silent_p.A66A			P09871	C1S_HUMAN	complement component 1, s subcomponent	66	CUB 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)	AGAACTGTGCGTATGACTCAG	0.468													37	151					0	0	0	0	A	7169971	G	A	7169971	2	1	324	1	0	0	0	0	0	0	0	1	1993	1132	40	1		1	C1S	12	7169971	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08		7169971	126681924	107	57637											
CLSTN3	9746	broad.mit.edu	37	chr12	7302138	7302138	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgacagacacacgcatgtcGgatgagattgtgcacaacct	12	8	11	10	2	0	3	0	2	0	2	1	5	0	4	1	1	2	2	1	1	1	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:7302138G>T	ENST00000537408.1	+	13	2668	c.2130G>T	c.(2128-2130)tcG>tcT	p.S710S	CLSTN3_ENST00000266546.6_Silent_p.S698S			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	698					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CACGCATGTCGGATGAGATTG	0.577													36	54					9.9191e-30	1.17957e-29	1	0	T	7302138	G	T	7302138	2	4	324	1	0	0	0	0	0	0	0	1	3593	1103	39	3		3	CLSTN3	12	7302138	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	132167	7302138	126549757	108	57638											
MFAP5	8076	broad.mit.edu	37	chr12	8800752	8800752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtcggaagtaattggagcGacggagtctcctagggggca	11	7	16	7	3	1	0	0	0	1	0	3	4	1	3	1	5	1	2	1	5	4	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:8800752G>A	ENST00000359478.2	-	10	644	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	MFAP5_ENST00000535336.1_Missense_Mutation_p.R89C|MFAP5_ENST00000396549.2_Missense_Mutation_p.R143C|MFAP5_ENST00000433590.2_Missense_Mutation_p.R128C|MFAP5_ENST00000540087.1_Missense_Mutation_p.R143C|MFAP5_ENST00000543369.1_Missense_Mutation_p.R131C	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	153						microfibril	extracellular matrix structural constituent	p.R153C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TAATTGGAGCGACGGAGTCTC	0.458													27	56					0	0	0	0	A	8800752	G	A	8800752	3	1	324	1	0	0	0	0	1	0	0	0	9587	1058	37	1	68	1	MFAP5	12	8800752	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	1498614	8800752	125051143	109	57639											
C12orf68	387856	broad.mit.edu	37	chr12	48578417	48578417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtctccttgggggggAcgggccacttgtggagcccc	3	9	17	12	1	1	0	0	0	1	0	2	2	1	2	4	6	2	1	4	6	0	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:48578417A>G	ENST00000316554.3	+	1	1052	c.512A>G	c.(511-513)gAc>gGc	p.D171G		NM_001013635.3	NP_001013657.3	Q52MB2	CL068_HUMAN	chromosome 12 open reading frame 68	171						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CTTGGGGGGGACGGGCCACTT	0.657													2	5					0	0	0	0	G	48578417	A	G	48578417	3	3	324	1	0	0	0	0	1	0	0	0	1722	275	10	5	514	5	C12orf68	12	48578417	Missense_Mutation	SNP	A	TCGA-CV-7437-01A-21D-2129-08	39777665	48578417	85273478	110	57640											
KCNH3	23416	broad.mit.edu	37	chr12	49950962	49950966	+	Splice_Site	DEL	ACAGA	ACAGA	-																															ataaccccatcctactacccAcagagagcggcctgctcact																										TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:49950962_49950966delACAGA	ENST00000257981.6	+	14	2835_2836	c.2575_splice	c.e14-1	p.859_splice		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	859					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCTACTACCCACAGAGAGCGGCCTG	0.595													16	48	---	---	---	---					-	49950966	ACAGA	-	49950962	8	5	324	1	0	1	0	1	0	0	1	0	8086	174	6	0		0	KCNH3	12	49950962	Splice_Site	DEL	ACAGA	TCGA-CV-7437-01A-21D-2129-08	1372545	49950962	83900933	111	57641											
ATF7	11016	broad.mit.edu	37	chr12	53918430	53918430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttcgcttttggcggcagCgggaggctgcagcccggttg	3	10	17	11	4	0	0	0	0	0	0	1	1	0	1	1	5	3	6	1	5	0	4			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:53918430C>A	ENST00000420353.2	-	10	1192	c.1043G>T	c.(1042-1044)cGc>cTc	p.R348L	ATF7_ENST00000328463.7_Missense_Mutation_p.R359L|ATF7_ENST00000456903.4_Missense_Mutation_p.R348L|ATF7_ENST00000415113.1_Missense_Mutation_p.R327L|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000548446.2_Missense_Mutation_p.R359L|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.R348L	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	359	Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						TTGGCGGCAGCGGGAGGCTGC	0.607													33	45					3.03874e-20	3.51854e-20	1	0	A	53918430	C	A	53918430	3	1	324	1	0	0	0	0	1	0	0	0	1090	768	27	3	420	3	ATF7	12	53918430	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	3967468	53918430	79933465	112	57642											
OR10A7	121364	broad.mit.edu	37	chr12	55615608	55615608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcggcccaaatcaaaccagtCccctgagagcaagaagctag	14	4	10	13	1	1	2	1	1	0	2	2	3	2	2	4	1	3	2	4	1	5	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:55615608C>T	ENST00000326258.1	+	1	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCAAACCAGTCCCCTGAGAGC	0.507													15	76					0	0	0	0	T	55615608	C	T	55615608	3	4	324	1	0	0	0	0	1	0	0	0	10966	855	30	2	802	2	OR10A7	12	55615608	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	1697178	55615608	78236287	113	57643											
DNAJC14	85406	broad.mit.edu	37	chr12	56221350	56221350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatccagccaagagaagaGccaggtagccttatccctcc	13	6	9	13	0	0	3	0	0	0	3	3	4	3	3	6	1	3	1	6	1	5	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:56221350G>A	ENST00000357606.3	-	3	1382	c.1093C>T	c.(1093-1095)Ctc>Ttc	p.L365F	DNAJC14_ENST00000317269.3_Missense_Mutation_p.L365F|DNAJC14_ENST00000317287.5_Missense_Mutation_p.L365F			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	365					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CAAGAGAAGAGCCAGGTAGCC	0.567													22	70					0	0	0	0	A	56221350	G	A	56221350	3	1	324	1	0	0	0	0	1	0	0	0	4669	971	34	4	1039	4	DNAJC14	12	56221350	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	605742	56221350	77630545	114	57644											
TIMELESS	8914	broad.mit.edu	37	chr12	56815168	56815168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaactttttctgccgtttCttgtacagctcccgccgctc	4	14	7	16	3	2	0	0	0	2	0	4	0	3	0	4	0	4	4	4	0	2	5	rs113553695		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:56815168C>T	ENST00000229201.4	-	23	2986	c.2832G>A	c.(2830-2832)aaG>aaA	p.K944K	TIMELESS_ENST00000554616.1_Silent_p.K442K|TIMELESS_ENST00000553532.1_Silent_p.K945K	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	945					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCTGCCGTTTCTTGTACAGCT	0.527													75	66					0	0	0	0	T	56815168	C	T	56815168	2	4	324	1	0	0	0	0	0	0	0	1	15998	912	32	2		2	TIMELESS	12	56815168	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	593818	56815168	77036727	115	57645											
TMEM194A	23306	broad.mit.edu	37	chr12	57454716	57454716	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaggcttttctgctccCttacacacctttctgtgctc	6	14	7	14	0	2	0	0	0	2	0	4	1	3	1	2	2	4	3	2	2	2	4			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:57454716C>T	ENST00000300128.4	-	8	1016	c.993G>A	c.(991-993)aaG>aaA	p.K331K	TMEM194A_ENST00000379391.3_Silent_p.K258K	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	331						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TTTCTGCTCCCTTACACACCT	0.438													29	76					0	0	0	0	T	57454716	C	T	57454716	2	4	324	1	0	0	0	0	0	0	0	1	16210	680	24	4		4	TMEM194A	12	57454716	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	639548	57454716	76397179	116	57646											
TMTC2	160335	broad.mit.edu	37	chr12	83324299	83324299	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctttgtactaccgcagcAacatggctgacatgctttat	10	13	8	10	1	0	1	0	1	0	0	0	1	0	1	1	1	6	6	1	1	4	5			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:83324299A>G	ENST00000549919.1	+	5	3360	c.1555A>G	c.(1555-1557)Aac>Gac	p.N519D	TMTC2_ENST00000548305.1_Missense_Mutation_p.N525D|TMTC2_ENST00000321196.3_Missense_Mutation_p.N525D			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	525						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTACCGCAGCAACATGGCTGA	0.433													9	43					0	0	0	0	G	83324299	A	G	83324299	3	3	324	1	0	0	0	0	1	0	0	0	16355	130	5	5	1587	5	TMTC2	12	83324299	Missense_Mutation	SNP	A	TCGA-CV-7437-01A-21D-2129-08	25869583	83324299	50527596	117	57647											
FREM2	341640	broad.mit.edu	37	chr13	39265184	39265184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattacccaattccccactCatggtcacatcatgaatcag	12	11	4	14	0	4	1	4	1	0	0	5	1	5	1	3	1	1	0	3	1	4	3	rs151214132		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr13:39265184C>A	ENST00000280481.7	+	1	3919	c.3703C>A	c.(3703-3705)Cat>Aat	p.H1235N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1235					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTCCCCACTCATGGTCACAT	0.428													58	258					2.12129e-23	2.48898e-23	1	0	A	39265184	C	A	39265184	3	1	324	1	0	0	0	0	1	0	0	0	6093	826	29	2	3705	2	FREM2	13	39265184	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08		39265184	75904694	118	57648											
GPC5	2262	broad.mit.edu	37	chr13	92380812	92380812	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggatttgtggccgccctgtAagaacacccacacaaagccc	12	6	9	14	1	0	1	0	0	0	1	0	2	0	2	4	2	2	1	4	2	3	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr13:92380812A>T	ENST00000377067.3	+	4	1419	c.1047A>T	c.(1045-1047)gtA>gtT	p.V349V	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	349						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCCGCCCTGTAAGAACACCCA	0.423													14	126					0	0	0	0	T	92380812	A	T	92380812	2	4	324	1	0	0	0	0	0	0	0	1	6650	349	13	5		5	GPC5	13	92380812	Silent	SNP	A	TCGA-CV-7437-01A-21D-2129-08	53115628	92380812	22789066	119	57649											
UGGT2	55757	broad.mit.edu	37	chr13	96675306	96675306	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatttaccttgaagcagctTtcttcagcagctttttaatc	10	17	5	9	0	2	1	1	1	1	0	3	1	2	1	1	0	5	4	1	0	4	9			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr13:96675306T>A	ENST00000376747.3	-	4	543	c.473A>T	c.(472-474)aAa>aTa	p.K158I	UGGT2_ENST00000376712.4_Missense_Mutation_p.K158I|UGGT2_ENST00000376714.3_Missense_Mutation_p.K158I|UGGT2_ENST00000397618.3_Missense_Mutation_p.K158I	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	158					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGAAGCAGCTTTCTTCAGCAG	0.323													22	56					0	0	0	0	A	96675306	T	A	96675306	3	1	324	1	0	0	0	0	1	0	0	0	17038	1841	64	5	4221	5	UGGT2	13	96675306	Missense_Mutation	SNP	T	TCGA-CV-7437-01A-21D-2129-08	4294494	96675306	18494572	120	57650											
AKAP6	9472	broad.mit.edu	37	chr14	33293503	33293503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttttgaggcctgtgttgagGgtgactctgatggagaggag	7	13	17	4	0	1	5	0	4	1	1	1	7	1	6	1	4	0	1	1	4	0	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:33293503G>A	ENST00000280979.4	+	13	6654	c.6484G>A	c.(6484-6486)Ggt>Agt	p.G2162S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2162					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)		CTGTGTTGAGGGTGACTCTGA	0.478													30	17					0	0	0	0	A	33293503	G	A	33293503	3	1	324	1	0	0	0	0	1	0	0	0	455	1232	43	4	6530	4	AKAP6	14	33293503	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08		33293503	74056037	121	57651											
C14orf37	145407	broad.mit.edu	37	chr14	58471868	58471868	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctccagctatcccaaccccTacaggcaccagcatcccaga	11	5	6	19	0	0	1	0	0	0	1	3	1	3	1	6	1	4	4	6	1	3	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:58471868T>G	ENST00000267485.7	-	7	2348	c.2154A>C	c.(2152-2154)gtA>gtC	p.V718V		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	718						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCCCAACCCCTACAGGCACCA	0.488													47	50					0	0	0	0	G	58471868	T	G	58471868	2	3	324	1	0	0	0	0	0	0	0	1	1783	1509	53	5		5	C14orf37	14	58471868	Silent	SNP	T	TCGA-CV-7437-01A-21D-2129-08	25178365	58471868	48877672	122	57652											
SNAPC1	6617	broad.mit.edu	37	chr14	62233670	62233672	+	In_Frame_Del	DEL	CCA	CCA	-																															cttggcgatattttttacctCcatacaccttccagatcaga																										TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:62233670_62233672delCCA	ENST00000216294.4	+	2	309_311	c.205_207delCCA	c.(205-207)del	p.P69del	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	69	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TTTTTTACCTCCATACACCTTCC	0.33													18	33	---	---	---	---					-	62233672	CCA	-	62233670	7	5	324	1	0	1	0	1	0	0	0	0	14922	855	30	0	211	0	SNAPC1	14	62233670	In_Frame_Del	DEL	CCA	TCGA-CV-7437-01A-21D-2129-08	3761802	62233670	45115870	123	57653											
FCF1	51077	broad.mit.edu	37	chr14	75182665	75182665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcagtccccaacaccCttcctgcttatttttccaat	7	16	2	16	0	1	0	1	0	0	0	5	0	5	0	6	0	2	1	6	0	3	6	rs114572906	by1000genomes	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:75182665C>G	ENST00000341162.4	+	4	209	c.155C>G	c.(154-156)cCt>cGt	p.P52R	FCF1_ENST00000534938.2_Missense_Mutation_p.P40R|FCF1_ENST00000553615.1_Missense_Mutation_p.P37R	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	52					rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CCCCAACACCCTTCCTGCTTA	0.373													12	178					0	0	0	0	G	75182665	C	G	75182665	3	3	324	1	0	0	0	0	1	0	0	0	5822	681	24	4	169	4	FCF1	14	75182665	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	12948995	75182665	32166875	124	57654											
KCNK13	56659	broad.mit.edu	37	chr14	90650616	90650616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccaccagcggcagctcCggagacgaggggccctgccc	6	3	15	17	4	0	1	0	0	0	1	1	3	1	1	5	4	4	2	5	4	0	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:90650616C>T	ENST00000282146.4	+	2	937	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	166						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GCGGCAGCTCCGGAGACGAGG	0.612													5	76					0	0	0	0	T	90650616	C	T	90650616	3	4	324	1	0	0	0	0	1	0	0	0	8114	643	23	1	502	1	KCNK13	14	90650616	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	15467951	90650616	16698924	125	57655											
DICER1	23405	broad.mit.edu	37	chr14	95584087	95584087	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgccagcttcctttaTcaatctaagaaaattataca	13	16	4	8	0	2	1	1	0	1	1	3	1	3	1	2	0	3	2	2	0	7	8	rs141163928		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:95584087T>C	ENST00000526495.1	-	11	1672	c.1381A>G	c.(1381-1383)Ata>Gta	p.I461V	DICER1_ENST00000541352.1_Missense_Mutation_p.I461V|DICER1_ENST00000527414.1_Missense_Mutation_p.I461V|DICER1_ENST00000393063.1_Missense_Mutation_p.I461V|DICER1_ENST00000343455.3_Missense_Mutation_p.I461V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	461	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCTTCCTTTATCAATCTAAGA	0.348			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				8	43					0	0	0	0	C	95584087	T	C	95584087	3	2	324	1	0	0	0	0	1	0	0	0	4558	1435	50	5	4463	5	DICER1	14	95584087	Missense_Mutation	SNP	T	TCGA-CV-7437-01A-21D-2129-08	4933471	95584087	11765453	126	57656											
SEMA6D	80031	broad.mit.edu	37	chr15	48063143	48063143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagagccactcagaaaagGcccatggccatggagcttca	13	6	11	11	0	2	3	2	1	0	2	2	4	2	4	3	3	2	1	3	3	3	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr15:48063143G>T	ENST00000316364.5	+	19	2822	c.2383G>T	c.(2383-2385)Gcc>Tcc	p.A795S	SEMA6D_ENST00000536845.2_Missense_Mutation_p.A795S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.A733S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.A720S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.A733S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.A776S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.A752S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.A739S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.A733S|SEMA6D_ENST00000355997.3_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	795					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTCAGAAAAGGCCCATGGCCA	0.542													24	53					5.45024e-15	6.10982e-15	1	0	T	48063143	G	T	48063143	3	4	324	1	0	0	0	0	1	0	0	0	14129	1203	42	4	2496	4	SEMA6D	15	48063143	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08		48063143	54468249	127	57657											
EFTUD1	79631	broad.mit.edu	37	chr15	82456255	82456259	+	Frame_Shift_Del	DEL	AAATG	AAATG	-																															gcttcgaagttgagtggtatAaatggtgggcaggatggcag																										TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr15:82456255_82456259delAAATG	ENST00000268206.7	-	16	1985_1989	c.1817_1821delCATTT	c.(1816-1821)cfs	p.PF606fs	EFTUD1_ENST00000359445.3_Frame_Shift_Del_p.PF555fs	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	606					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGAGTGGTATAAATGGTGGGCAGGA	0.4													14	39	---	---	---	---					-	82456259	AAATG	-	82456255	7	5	324	1	0	1	0	1	0	0	0	0	4996	359	13	0	1561	0	EFTUD1	15	82456255	Frame_Shift_Del	DEL	AAATG	TCGA-CV-7437-01A-21D-2129-08	34393112	82456255	20075137	128	57658											
TAOK2	9344	broad.mit.edu	37	chr16	29993064	29993064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgaatcccccgtgctccaGtcaggacactggtgaggact	10	7	11	13	2	1	1	1	1	0	0	3	4	3	3	3	3	2	1	3	3	2	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr16:29993064G>T	ENST00000308893.4	+	9	1781	c.738G>T	c.(736-738)caG>caT	p.Q246H	TAOK2_ENST00000279394.3_Missense_Mutation_p.Q246H|TAOK2_ENST00000416441.2_Missense_Mutation_p.Q73H|TAOK2_ENST00000543033.1_Missense_Mutation_p.Q246H	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	246	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCGTGCTCCAGTCAGGACACT	0.542													14	59					7.93312e-07	8.36065e-07	1	0	T	29993064	G	T	29993064	3	4	324	1	0	0	0	0	1	0	0	0	15639	1020	36	4	768	4	TAOK2	16	29993064	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08		29993064	60361689	129	57659											
TP53	7157	broad.mit.edu	37	chr17	7579336	7579336	+	Frame_Shift_Del	DEL	C	C	-																															caagtcacagacttggctgtCccagaatgcaagaagcccag																										TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:7579336delC	ENST00000420246.2	-	4	483	c.351delG	c.(349-351)ggfs	p.G117fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.G117fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.G117fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G117fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.G117fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.G117fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	117	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.T118fs*6(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.T118fs*5(1)|p.T118fs*31(1)|p.L114fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACTTGGCTGTCCCAGAATGCA	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			52	25	---	---	---	---					-	7579336	C	-	7579336	7	5	324	1	0	1	0	1	0	0	0	0	16476	842	30	0	951	0	TP53	17	7579336	Frame_Shift_Del	DEL	C	TCGA-CV-7437-01A-21D-2129-08		7579336	73615874	130	57660											
NOS2	4843	broad.mit.edu	37	chr17	26114800	26114800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggtcctctggtcaaaCttttgggagtcataatggac	8	12	11	10	0	3	0	2	0	1	0	4	2	4	2	2	4	1	0	2	4	2	3	rs148763708	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:26114800C>T	ENST00000313735.6	-	5	604	c.371G>A	c.(370-372)aGt>aAt	p.S124N		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	124					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCTGGTCAAACTTTTGGGAGT	0.498													6	164					0	0	0	0	T	26114800	C	T	26114800	3	4	324	1	0	0	0	0	1	0	0	0	10613	565	20	4	3182	4	NOS2	17	26114800	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	18535464	26114800	55080410	131	57661											
ABCA5	23461	broad.mit.edu	37	chr17	67302927	67302927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttatttttttttctttttCtgctacgatatgaattgcca	7	24	4	6	1	2	1	0	1	2	0	2	2	2	1	1	0	3	1	1	0	4	11			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:67302927C>T	ENST00000392676.3	-	6	791	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	ABCA5_ENST00000588877.1_Missense_Mutation_p.E243K|ABCA5_ENST00000392677.2_Missense_Mutation_p.E243K			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	243					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTTTCTTTTTCTGCTACGATA	0.254													13	32					0	0	0	0	T	67302927	C	T	67302927	3	4	324	1	0	0	0	0	1	0	0	0	35	922	32	2	4337	2	ABCA5	17	67302927	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	41188127	67302927	13892283	132	57662											
FAM104A	84923	broad.mit.edu	37	chr17	71223343	71223343	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaagacagggtttctgctActtcttttggtctggggggg	6	14	15	6	0	3	2	0	1	3	1	3	2	3	2	0	5	2	2	0	5	2	5			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:71223343A>G	ENST00000405159.3	-	2	346	c.282T>C	c.(280-282)agT>agC	p.S94S	FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000403627.3_Silent_p.S94S|FAM104A_ENST00000580032.1_5'UTR	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	94	Ser-rich.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GGTTTCTGCTACTTCTTTTGG	0.408													20	103					0	0	0	0	G	71223343	A	G	71223343	2	3	324	1	0	0	0	0	0	0	0	1	5426	388	14	5		5	FAM104A	17	71223343	Silent	SNP	A	TCGA-CV-7437-01A-21D-2129-08	3920416	71223343	9971867	133	57663											
LAMA1	284217	broad.mit.edu	37	chr18	6943269	6943269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaactgcgttcccgtcaaCaatcagagtgatacggtgtt	10	10	10	11	3	2	2	2	1	0	1	3	2	3	2	2	1	4	2	2	1	4	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:6943269C>A	ENST00000389658.3	-	62	9070	c.8977G>T	c.(8977-8979)Gtt>Ttt	p.V2993F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2993	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCCCGTCAACAATCAGAGTG	0.488													99	30					1.54295e-31	1.84734e-31	1	0	A	6943269	C	A	6943269	3	1	324	1	0	0	0	0	1	0	0	0	8658	478	17	4	258	4	LAMA1	18	6943269	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08		6943269	71133979	134	57664											
SS18	6760	broad.mit.edu	37	chr18	23619368	23619369	+	Frame_Shift_Ins	INS	-	-	C																															cttggtaatgctgtccgcctINSccctgtggcatattgtattg																										TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:23619368_23619369insC	ENST00000415083.2	-	6	714_715	c.659_660insG	c.(658-660)gggfs	p.G220fs	SS18_ENST00000542743.1_Frame_Shift_Ins_p.G168fs|SS18_ENST00000542420.2_Frame_Shift_Ins_p.G197fs|SS18_ENST00000545952.1_Frame_Shift_Ins_p.G168fs|SS18_ENST00000269137.7_Frame_Shift_Ins_p.G220fs|SS18_ENST00000539849.1_Frame_Shift_Ins_p.G138fs	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	220	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GCTGTCCGCCTCCCTGTGGCAT	0.426			T	"SSX1,  SSX2"	synovial sarcoma								79	42	---	---	---	---					C	23619369	-	C	23619368	7	5	324	1	0	1	1	0	0	0	0	0	15265	1538	54	0	620	0	SS18	18	23619368	Frame_Shift_Ins	INS	-	TCGA-CV-7437-01A-21D-2129-08	16676099	23619368	54457880	135	57665											
CDH20	28316	broad.mit.edu	37	chr18	59166671	59166671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaatgagcccaagttcctgGacggaccttatgtggccact	10	9	10	12	1	0	1	0	1	0	0	1	3	1	3	4	3	1	1	4	3	3	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:59166671G>A	ENST00000262717.4	+	3	897	c.499G>A	c.(499-501)Gac>Aac	p.D167N	CDH20_ENST00000538374.1_Missense_Mutation_p.D167N|CDH20_ENST00000536675.2_Missense_Mutation_p.D167N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	167	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D167N(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAAGTTCCTGGACGGACCTTA	0.502													14	42					0	0	0	0	A	59166671	G	A	59166671	3	1	324	1	0	0	0	0	1	0	0	0	3135	1174	41	2	505	2	CDH20	18	59166671	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	35547303	59166671	18910577	136	57666											
KCNG2	26251	broad.mit.edu	37	chr18	77659522	77659522	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtcatctccatgaccacCgtgggctacggcgacatggt	7	8	12	14	4	2	1	1	1	1	0	3	2	2	1	4	3	1	1	4	3	1	1	rs3744887		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:77659522C>T	ENST00000316249.3	+	2	1107	c.1107C>T	c.(1105-1107)acC>acT	p.T369T	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	369					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCATGACCACCGTGGGCTACG	0.706													25	15					0	0	0	0	T	77659522	C	T	77659522	2	4	324	1	0	0	0	0	0	0	0	1	8081	639	23	1		1	KCNG2	18	77659522	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	18492851	77659522	417726	137	57667											
DOT1L	84444	broad.mit.edu	37	chr19	2223362	2223362	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcccctgtgccctaccAggaccacgaccagccccccg	7	4	9	21	2	0	0	0	0	0	0	1	3	1	1	9	1	4	1	9	1	1	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:2223362A>G	ENST00000398665.3	+	25	3509	c.3473A>G	c.(3472-3474)cAg>cGg	p.Q1158R		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1158						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GTGCCCTACCAGGACCACGAC	0.622													11	62					0	0	0	0	G	2223362	A	G	2223362	3	3	324	1	0	0	0	0	1	0	0	0	4745	188	7	5	3571	5	DOT1L	19	2223362	Missense_Mutation	SNP	A	TCGA-CV-7437-01A-21D-2129-08		2223362	56905621	138	57668											
TICAM1	148022	broad.mit.edu	37	chr19	4816803	4816803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcctgaagcctgtggggCttgaaggtgttggccacctt	5	10	16	10	1	0	2	0	2	0	0	0	2	0	2	4	5	1	2	4	5	2	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:4816803C>A	ENST00000248244.5	-	2	1816	c.1587G>T	c.(1585-1587)aaG>aaT	p.K529N		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	529	Sufficient to induce apoptosis.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	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)		GCCTGTGGGGCTTGAAGGTGT	0.657													13	23					7.93312e-07	8.36065e-07	1	0	A	4816803	C	A	4816803	3	1	324	1	0	0	0	0	1	0	0	0	15986	796	28	4	555	4	TICAM1	19	4816803	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	2593441	4816803	54312180	139	57669											
FUT5	2527	broad.mit.edu	37	chr19	5867388	5867388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtgcacgatgaccgcgtCtgcctgtgggtacacactgg	6	9	15	11	3	1	1	0	1	1	0	1	2	1	1	2	3	3	2	2	3	1	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:5867388C>T	ENST00000252675.5	-	5	911	c.349G>A	c.(349-351)Gac>Aac	p.D117N	FUT5_ENST00000588525.1_Missense_Mutation_p.D117N			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	117					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						ATGACCGCGTCTGCCTGTGGG	0.642													21	38					0	0	0	0	T	5867388	C	T	5867388	3	4	324	1	0	0	0	0	1	0	0	0	6155	913	32	2	779	2	FUT5	19	5867388	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	1050585	5867388	53261595	140	57670											
SLC1A6	6511	broad.mit.edu	37	chr19	15072831	15072831	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagataatgatgcccacCagcctcataatagcctcatt	13	9	5	14	0	2	2	2	1	0	1	2	2	2	2	5	0	3	0	5	0	3	4			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:15072831C>A	ENST00000598504.1	-	8	2277	c.918G>T	c.(916-918)ctG>ctT	p.L306L	SLC1A6_ENST00000430939.2_Silent_p.L242L|SLC1A6_ENST00000600144.1_Silent_p.L306L|SLC1A6_ENST00000544886.2_Silent_p.L306L|SLC1A6_ENST00000221742.3_Silent_p.L306L	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	306					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TGATGCCCACCAGCCTCATAA	0.572													4	92					0.00909568	0.00920023	1	0	A	15072831	C	A	15072831	2	1	324	1	0	0	0	0	0	0	0	1	14524	581	21	4		4	SLC1A6	19	15072831	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	9205443	15072831	44056152	141	57671											
CYP4F12	66002	broad.mit.edu	37	chr19	15784508	15784508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttcccacagcccccaaaaCggaactggttttggggtcac	9	9	10	13	1	1	0	1	0	0	0	2	1	2	1	3	4	3	2	3	4	3	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:15784508C>T	ENST00000550308.1	+	2	549	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R57W	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCCCCCAAAACGGAACTGGTT	0.592													6	123					0	0	0	0	T	15784508	C	T	15784508	3	4	324	1	0	0	0	0	1	0	0	0	4219	527	19	1	171	1	CYP4F12	19	15784508	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	711677	15784508	43344475	142	57672											
FCGBP	8857	broad.mit.edu	37	chr19	40408592	40408592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccacctcctcccaggagttgCcgaactcattggcgttgcct	6	10	9	16	2	1	0	1	0	0	0	3	2	3	1	6	2	3	2	6	2	1	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:40408592C>T	ENST00000221347.6	-	8	4254	c.4247G>A	c.(4246-4248)gGc>gAc	p.G1416D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1416	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAGGAGTTGCCGAACTCATT	0.637													70	35					0	0	0	0	T	40408592	C	T	40408592	3	4	324	1	0	0	0	0	1	0	0	0	5823	739	26	4	12086	4	FCGBP	19	40408592	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	24624084	40408592	18720391	143	57673											
RPL13A	23521	broad.mit.edu	37	chr19	49993179	49993179	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctaaacaggtactgctgGgtaagtcgctgctcgtggcc	7	10	14	10	2	0	0	0	0	0	0	2	0	0	0	1	4	4	6	1	4	4	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:49993179G>A	ENST00000391857.4	+	2	164	c.88_splice	c.e2+1	p.G30_splice	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	30					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GGTACTGCTGGGTAAGTCGCT	0.592													38	100					0	0	0	0	A	49993179	G	A	49993179	5	1	324	1	0	0	0	0	0	0	1	0	13645	1246	43	4	94	4	RPL13A	19	49993179	Splice_Site	SNP	G	TCGA-CV-7437-01A-21D-2129-08	9584587	49993179	9135804	144	57674											
SYT5	6861	broad.mit.edu	37	chr19	55687172	55687172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccggcagcaggtagacccGcacataggggtccgaggagc	9	4	16	12	3	0	1	0	0	0	1	2	3	2	2	3	5	2	4	3	5	2	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:55687172G>A	ENST00000354308.3	-	5	814	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	SYT5_ENST00000590851.1_Missense_Mutation_p.R146W|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.R149W	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	149	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AGGTAGACCCGCACATAGGGG	0.622													27	82					0	0	0	0	A	55687172	G	A	55687172	3	1	324	1	0	0	0	0	1	0	0	0	15568	1086	38	1	735	1	SYT5	19	55687172	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	5693993	55687172	3441811	145	57675											
SBK2	646643	broad.mit.edu	37	chr19	56042631	56042631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggctgagtgcgcgcccagcGagagccccacacagaactcg	9	4	13	15	4	0	3	0	1	0	2	1	4	0	3	3	1	4	1	3	1	1	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:56042631G>C	ENST00000413299.1	-	3	372	c.335C>G	c.(334-336)tCg>tGg	p.S112W	SBK2_ENST00000344158.3_Missense_Mutation_p.S112W	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	112	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGCGCCCAGCGAGAGCCCCAC	0.667													5	24					0	0	0	0	C	56042631	G	C	56042631	3	2	324	1	0	0	0	0	1	0	0	0	13947	1059	37	3	718	3	SBK2	19	56042631	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	355459	56042631	3086352	146	57676											
PLCB1	23236	broad.mit.edu	37	chr20	8745992	8745992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaaaagtccgccaaaaagGacagtaagaaaaagtaagtt	20	6	10	5	1	0	1	0	0	0	1	1	3	1	3	2	2	0	3	2	2	8	3			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:8745992G>T	ENST00000378641.3	+	26	3392	c.2917G>T	c.(2917-2919)Gac>Tac	p.D973Y	PLCB1_ENST00000378637.2_Missense_Mutation_p.D973Y|PLCB1_ENST00000338037.6_Missense_Mutation_p.D973Y|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	973					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CGCCAAAAAGGACAGTAAGAA	0.328													31	27					7.63505e-26	9.01858e-26	1	0	T	8745992	G	T	8745992	3	4	324	1	0	0	0	0	1	0	0	0	12099	1174	41	2	3019	2	PLCB1	20	8745992	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08		8745992	54279528	147	57677											
SSTR4	6754	broad.mit.edu	37	chr20	23016973	23016973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctgctgaacctcttcGtgaccagccttgatgccacc	7	10	9	15	1	1	3	0	3	1	0	2	3	1	3	5	0	6	3	5	0	1	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:23016973G>A	ENST00000255008.3	+	1	917	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	285					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.V285M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAACCTCTTCGTGACCAGCCT	0.552													42	127					0	0	0	0	A	23016973	G	A	23016973	3	1	324	1	0	0	0	0	1	0	0	0	15290	1145	40	1	855	1	SSTR4	20	23016973	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08	14270981	23016973	40008547	148	57678											
TTLL9	164395	broad.mit.edu	37	chr20	30486334	30486334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacacactcatggacgtcCttcgccacaggccaggatgg	10	7	11	13	2	1	1	1	1	0	0	3	3	2	3	3	4	1	0	3	4	1	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:30486334C>T	ENST00000375938.4	+	4	425	c.172C>T	c.(172-174)Ctt>Ttt	p.L58F	TTLL9_ENST00000375921.2_Missense_Mutation_p.L8F|TTLL9_ENST00000310998.4_Missense_Mutation_p.L8F|TTLL9_ENST00000375922.4_Missense_Mutation_p.L8F|TTLL9_ENST00000535842.1_Missense_Mutation_p.L58F|TTLL9_ENST00000375934.4_Missense_Mutation_p.L40F			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	58	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATGGACGTCCTTCGCCACAG	0.522													24	45					0	0	0	0	T	30486334	C	T	30486334	3	4	324	1	0	0	0	0	1	0	0	0	16830	681	24	4	182	4	TTLL9	20	30486334	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	7469361	30486334	32539186	149	57679											
ATP9A	10079	broad.mit.edu	37	chr20	50234077	50234077	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcctgaatcatgctgacGtcattgcctccgtcccctgc	6	12	8	15	2	2	2	2	2	0	0	5	3	5	2	5	0	3	1	5	0	1	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:50234077G>A	ENST00000338821.5	-	22	2631	c.2367C>T	c.(2365-2367)gaC>gaT	p.D789D	ATP9A_ENST00000402822.1_Silent_p.D668D|ATP9A_ENST00000311637.5_Silent_p.D653D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	789					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCATGCTGACGTCATTGCCTC	0.498													6	11					0	0	0	0	A	50234077	G	A	50234077	2	1	324	1	0	0	0	0	0	0	0	1	1202	1136	40	1		1	ATP9A	20	50234077	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	19747743	50234077	12791443	150	57680											
LIPI	149998	broad.mit.edu	37	chr21	15538694	15538694	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagtatacctgagaaaattGatttaggacagccaggttgt	13	12	10	6	0	1	2	1	2	0	1	1	4	1	3	2	2	2	2	2	2	5	6			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr21:15538694G>C	ENST00000344577.2	-	5	810	c.785C>G	c.(784-786)tCa>tGa	p.S262*	LIPI_ENST00000536861.1_Nonsense_Mutation_p.S241*	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	241					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGAGAAAATTGATTTAGGACA	0.358													21	57					0	0	0	0	C	15538694	G	C	15538694	4	2	324	1	0	0	0	0	0	1	0	0	8880	1294	45	2	684	2	LIPI	21	15538694	Nonsense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08		15538694	32591201	151	57681											
CECR2	27443	broad.mit.edu	37	chr22	18022469	18022469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagggaggggactccatGatggacagcccagagatgat	11	6	16	8	0	0	3	0	2	0	1	1	7	1	6	2	4	2	1	2	4	0	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:18022469G>T	ENST00000262608.8	+	15	2574	c.2574G>T	c.(2572-2574)atG>atT	p.M858I	CECR2_ENST00000400585.2_Missense_Mutation_p.M716I|CECR2_ENST00000400573.4_Missense_Mutation_p.M857I	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	899					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGGACTCCATGATGGACAGCC	0.637													26	61					2.44723e-14	2.70888e-14	1	0	T	18022469	G	T	18022469	3	4	324	1	0	0	0	0	1	0	0	0	3235	1290	45	2	2631	2	CECR2	22	18022469	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08		18022469	33282097	152	57682											
LZTR1	8216	broad.mit.edu	37	chr22	21349206	21349206	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtcccacttcaaccaggtGatcatgatgaaggagttcga	12	9	11	9	1	2	3	2	3	0	0	4	6	3	4	2	2	1	1	2	2	2	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:21349206G>A	ENST00000215739.8	+	16	2192	c.1833G>A	c.(1831-1833)gtG>gtA	p.V611V	LZTR1_ENST00000389355.3_Silent_p.V592V|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	611					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCAACCAGGTGATCATGATGA	0.617													51	108					0	0	0	0	A	21349206	G	A	21349206	2	1	324	1	0	0	0	0	0	0	0	1	9202	1277	45	2		2	LZTR1	22	21349206	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	3326737	21349206	29955360	153	57683											
MN1	4330	broad.mit.edu	37	chr22	28196406	28196418	+	Frame_Shift_Del	DEL	CCCAGTGTGGAAA	CCCAGTGTGGAAA	-																															tccacagggccagggggcccCccagtgtggaaagccggggc																										TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:28196406_28196418delCCCAGTGTGGAAA	ENST00000302326.4	-	1	1068_1080	c.114_126delTTTCCACACTGGG	c.(112-126)gcfs	p.AFHTG38fs		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	38							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CAGGGGGCCCCCCAGTGTGGAAAGCCGGGGCCT	0.634			T	ETV6	"AML, meningioma"								12	74	---	---	---	---					-	28196418	CCCAGTGTGGAAA	-	28196406	7	5	324	1	0	1	0	1	0	0	0	0	9743	610	22	0	3844	0	MN1	22	28196406	Frame_Shift_Del	DEL	CCCAGTGTGGAAA	TCGA-CV-7437-01A-21D-2129-08	6847200	28196406	23108160	154	57684											
MYH9	4627	broad.mit.edu	37	chr22	36698676	36698678	+	In_Frame_Del	DEL	GGA	GGA	-																															gtaggcagcgcagttccgctGgaggaccttcatggcggtaa																										TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:36698676_36698678delGGA	ENST00000216181.5	-	20	2665_2667	c.2435_2437delTCC	c.(2434-2439)cag>c	p.LQ812del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	812					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGTTCCGCTGGAGGACCTTCAT	0.611			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				31	48	---	---	---	---					-	36698678	GGA	-	36698676	7	5	324	1	0	1	0	1	0	0	0	0	10112	1357	47	0	3533	0	MYH9	22	36698676	In_Frame_Del	DEL	GGA	TCGA-CV-7437-01A-21D-2129-08	8502270	36698676	14605890	155	57685											
SEPT3	55964	broad.mit.edu	37	chr22	42383247	42383247	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaaaatgaagctgaccgtCatcgacaccccaggctttgg	11	8	10	12	2	2	2	2	2	0	0	3	3	2	2	3	2	1	2	3	2	3	1			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:42383247C>T	ENST00000396425.3	+	4	500	c.369C>T	c.(367-369)gtC>gtT	p.V123V	SEPT3_ENST00000328414.8_Intron|SEPT3_ENST00000406029.1_Silent_p.V59V|SEPT3_ENST00000291236.11_Silent_p.V59V|SEPT3_ENST00000396426.3_Silent_p.V123V	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	123					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						AGCTGACCGTCATCGACACCC	0.493													22	54					0	0	0	0	T	42383247	C	T	42383247	2	4	324	1	0	0	0	0	0	0	0	1	14152	813	29	2		2	SEPT3	22	42383247	Silent	SNP	C	TCGA-CV-7437-01A-21D-2129-08	5684571	42383247	8921319	156	57686											
GRAMD4	23151	broad.mit.edu	37	chr22	47054120	47054120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgagaagaaaccaacgCggagatgctgcggcaggagc	12	3	16	10	4	0	3	0	0	0	3	0	6	0	4	1	3	6	3	1	3	3	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:47054120C>T	ENST00000406902.1	+	4	533	c.320C>T	c.(319-321)gCg>gTg	p.A107V	GRAMD4_ENST00000361034.3_Missense_Mutation_p.A107V			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	107					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GAAACCAACGCGGAGATGCTG	0.657													10	42					0	0	0	0	T	47054120	C	T	47054120	3	4	324	1	0	0	0	0	1	0	0	0	6802	768	27	1	330	1	GRAMD4	22	47054120	Missense_Mutation	SNP	C	TCGA-CV-7437-01A-21D-2129-08	4670873	47054120	4250446	157	57687											
GLRA2	2742	broad.mit.edu	37	chrX	14748410	14748410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaagtgaaagatggaacaGctgtcaaggccacacctgcc	13	6	10	12	0	1	2	1	1	0	1	2	3	2	3	4	2	3	1	4	2	4	0			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chrX:14748410G>A	ENST00000218075.4	+	9	1692	c.1162G>A	c.(1162-1164)Gct>Act	p.A388T	GLRA2_ENST00000443437.2_Missense_Mutation_p.A299T|GLRA2_ENST00000355020.4_Missense_Mutation_p.A388T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	388					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGATGGAACAGCTGTCAAGGC	0.473													7	172					0	0	0	0	A	14748410	G	A	14748410	3	1	324	1	0	0	0	0	1	0	0	0	6506	971	34	4	1268	4	GLRA2	23	14748410	Missense_Mutation	SNP	G	TCGA-CV-7437-01A-21D-2129-08		14748410	140522150	158	57688											
ASB9	140462	broad.mit.edu	37	chrX	15270437	15270437	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttgaacgctggctccGtgctgcagaagcaaattcac	10	9	11	11	2	2	2	2	1	0	1	3	2	3	2	1	2	4	6	1	2	3	2			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chrX:15270437G>A	ENST00000546332.1	-	5	855	c.372C>T	c.(370-372)caC>caT	p.H124H	ASB9_ENST00000380485.3_Silent_p.H124H|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Silent_p.H124H|ASB9_ENST00000380488.4_Silent_p.H124H	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	124					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CGCTGGCTCCGTGCTGCAGAA	0.488													46	13					0	0	0	0	A	15270437	G	A	15270437	2	1	324	1	0	0	0	0	0	0	0	1	1034	1136	40	1		1	ASB9	23	15270437	Silent	SNP	G	TCGA-CV-7437-01A-21D-2129-08	522027	15270437	140000123	159	57689											
EPHA2	1969	broad.mit.edu	37	chr1	16475205	16475210	+	In_Frame_Del	DEL	TTCAGC	TTCAGC	-																															ccacggagcgctcctccacgTtcagcttcacgtggcgtgcc																								rs146626026	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:16475205_16475210delTTCAGC	ENST00000358432.5	-	3	640_645	c.486_491delGCTGAA	c.(484-492)aac>aa	p.KLN162del	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	162					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTCCTCCACGTTCAGCTTCACGTGGC	0.612													25	48	---	---	---	---					-	16475210	TTCAGC	-	16475205	7	5	325	1	0	1	0	1	0	0	0	0	5205	1725	60	0	2499	0	EPHA2	1	16475205	In_Frame_Del	DEL	TTCAGC	TCGA-CV-7438-01A-21D-2129-08		16475205	232775416	1	57690											
UBR4	23352	broad.mit.edu	37	chr1	19478948	19478948	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaagtcaatggggaaagtCacctggctagacgtgcgggt	13	7	14	7	2	2	1	2	0	0	1	2	2	2	2	1	4	1	1	1	4	5	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:19478948C>T	ENST00000375267.2	-	47	6858	c.6855G>A	c.(6853-6855)gtG>gtA	p.V2285V	UBR4_ENST00000375226.2_Silent_p.V2285V|UBR4_ENST00000375254.3_Silent_p.V2285V|UBR4_ENST00000375217.2_Silent_p.V2285V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2285					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGGGAAAGTCACCTGGCTAG	0.507													8	153					0	0	0	0	T	19478948	C	T	19478948	2	4	325	1	0	0	0	0	0	0	0	1	17000	813	29	2		2	UBR4	1	19478948	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	3003743	19478948	229771673	2	57691											
KHDRBS1	10657	broad.mit.edu	37	chr1	32498892	32498892	+	Frame_Shift_Del	DEL	T	T	-																															cccatgtgaggcttatgctcTtatggcccatgccatggagg																										TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:32498892delT	ENST00000327300.7	+	4	895	c.728delT	c.(727-729)ctfs	p.L243fs	KHDRBS1_ENST00000492989.1_Frame_Shift_Del_p.L204fs|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	243					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCTTATGCTCTTATGGCCCAT	0.458													32	80	---	---	---	---					-	32498892	T	-	32498892	7	5	325	1	0	1	0	1	0	0	0	0	8197	1609	56	0	742	0	KHDRBS1	1	32498892	Frame_Shift_Del	DEL	T	TCGA-CV-7438-01A-21D-2129-08	13019944	32498892	216751729	3	57692											
COL9A2	1298	broad.mit.edu	37	chr1	40775985	40775985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtagcccctgatgccctggGgaccctgttgagaaagaaaa	11	7	13	10	0	0	3	0	2	0	2	0	5	0	4	4	3	2	2	4	3	4	2			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:40775985G>A	ENST00000372748.3	-	14	785	c.689C>T	c.(688-690)cCc>cTc	p.P230L		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	230	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GATGCCCTGGGGACCCTGTTG	0.527													6	71					0	0	0	0	A	40775985	G	A	40775985	3	1	325	1	0	0	0	0	1	0	0	0	3738	1232	43	4	1456	4	COL9A2	1	40775985	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	8277093	40775985	208474636	4	57693											
PTGFR	5737	broad.mit.edu	37	chr1	78958948	78958948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgctgcccatccttggaCatcgagactataaaattcag	11	12	7	11	1	1	1	1	0	0	1	3	3	2	2	2	1	2	1	2	1	3	5			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:78958948C>T	ENST00000370756.3	+	2	757	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	PTGFR_ENST00000370757.3_Missense_Mutation_p.H174Y|PTGFR_ENST00000370758.1_Missense_Mutation_p.H174Y	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	174					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CATCCTTGGACATCGAGACTA	0.368													11	131					0	0	0	0	T	78958948	C	T	78958948	3	4	325	1	0	0	0	0	1	0	0	0	12829	478	17	4	522	4	PTGFR	1	78958948	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	38182963	78958948	170291673	5	57694											
CLCA4	22802	broad.mit.edu	37	chr1	87031654	87031654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttctcattgctgaagaTcagtcaaagaattgtgtgct	10	15	9	7	0	4	3	3	1	2	2	5	3	4	3	0	0	2	2	0	0	3	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:87031654T>C	ENST00000370563.3	+	6	947	c.905T>C	c.(904-906)aTc>aCc	p.I302T	CLCA4_ENST00000263723.5_Missense_Mutation_p.I15T	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	302						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTGCTGAAGATCAGTCAAAGA	0.413													25	84					0	0	0	0	C	87031654	T	C	87031654	3	2	325	1	0	0	0	0	1	0	0	0	3489	1435	50	5	927	5	CLCA4	1	87031654	Missense_Mutation	SNP	T	TCGA-CV-7438-01A-21D-2129-08	8072706	87031654	162218967	6	57695											
SLC6A17	388662	broad.mit.edu	37	chr1	110709557	110709557	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccaggtggcatcaatgccGaagaacagcaaagtgaccca	14	4	11	12	1	1	2	1	1	0	1	1	3	1	2	3	2	3	2	3	2	4	0			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:110709557G>A	ENST00000331565.4	+	2	491	c.6G>A	c.(4-6)ccG>ccA	p.P2P	RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	2					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CATCAATGCCGAAGAACAGCA	0.572													12	11					0	0	0	0	A	110709557	G	A	110709557	2	1	325	1	0	0	0	0	0	0	0	1	14768	1045	37	1		1	SLC6A17	1	110709557	Silent	SNP	G	TCGA-CV-7438-01A-21D-2129-08	23677903	110709557	138541064	7	57696											
NBPF15	284565	broad.mit.edu	37	chr1	148594513	148594513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactcattccagcactacaGaagtgtgttttactcatttg	10	15	7	9	0	2	2	2	1	0	1	3	2	3	2	1	0	3	2	1	0	3	5			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:148594513G>A	ENST00000442702.2	+	21	2953	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K	NBPF15_ENST00000369187.3_Missense_Mutation_p.R629K	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	629	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CAGCACTACAGAAGTGTGTTT	0.438													18	421					0	0	0	0	A	148594513	G	A	148594513	3	1	325	1	0	0	0	0	1	0	0	0	10265	942	33	2	1944	2	NBPF15	1	148594513	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	37884956	148594513	100656108	8	57697											
FCRL4	83417	broad.mit.edu	37	chr1	157557115	157557115	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttgtggatgttacccctCactgtttcagcaccacacca	8	12	7	14	0	2	0	2	0	0	0	2	1	2	1	4	1	3	4	4	1	1	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:157557115C>G	ENST00000271532.1	-	5	933	c.798G>C	c.(796-798)gtG>gtC	p.V266V	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	266	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGTTACCCCTCACTGTTTCAG	0.572													108	218					0	0	0	0	G	157557115	C	G	157557115	2	3	325	1	0	0	0	0	0	0	0	1	5842	813	29	2		2	FCRL4	1	157557115	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	8962602	157557115	91693506	9	57698											
CFHR4	10877	broad.mit.edu	37	chr1	196871631	196871631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactatactttccagcagctGcaggacaatcttattcctat	11	13	6	11	0	1	0	0	0	1	0	3	2	3	1	2	1	4	3	2	1	5	6			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:196871631G>T	ENST00000367416.2	+	2	276	c.139G>T	c.(139-141)Gca>Tca	p.A47S	CFHR4_ENST00000251424.4_Missense_Mutation_p.A48S|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TCCAGCAGCTGCAGGACAATC	0.363													20	117					4.35082e-09	4.85283e-09	1	0	T	196871631	G	T	196871631	3	4	325	1	0	0	0	0	1	0	0	0	3316	1319	46	4	148	4	CFHR4	1	196871631	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	39314516	196871631	52378990	10	57699											
USH2A	7399	broad.mit.edu	37	chr1	215955425	215955425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaaccgtgcaagctttcaGctgatatgaatattcctgaa	13	11	8	9	1	1	3	1	3	0	0	2	3	2	3	2	0	5	4	2	0	6	4			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:215955425G>T	ENST00000366943.2	-	54	11085	c.10699C>A	c.(10699-10701)Ctg>Atg	p.L3567M	USH2A_ENST00000307340.3_Missense_Mutation_p.L3567M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3567	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAGCTTTCAGCTGATATGAA	0.438										HNSCC(13;0.011)			26	64					2.41591e-17	2.78021e-17	1	0	T	215955425	G	T	215955425	3	4	325	1	0	0	0	0	1	0	0	0	17132	962	34	4	4985	4	USH2A	1	215955425	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	19083794	215955425	33295196	11	57700											
VIT	5212	broad.mit.edu	37	chr2	37028521	37028521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagccatagagaaaattaCtcagagaggaggactttcta	16	8	10	7	0	2	2	1	0	1	2	2	7	2	4	1	2	2	0	1	2	5	4			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:37028521C>T	ENST00000379242.3	+	13	1438	c.1136C>T	c.(1135-1137)aCt>aTt	p.T379I	VIT_ENST00000379241.3_Missense_Mutation_p.T342I|VIT_ENST00000401530.1_Missense_Mutation_p.T343I|VIT_ENST00000497382.1_Missense_Mutation_p.T33I|VIT_ENST00000404084.1_Missense_Mutation_p.T316I|VIT_ENST00000389975.3_Missense_Mutation_p.T364I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	364	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GAGAAAATTACTCAGAGAGGA	0.393													13	167					0	0	0	0	T	37028521	C	T	37028521	3	4	325	1	0	0	0	0	1	0	0	0	17267	565	20	4	1307	4	VIT	2	37028521	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08		37028521	206170852	12	57701											
GGCX	2677	broad.mit.edu	37	chr2	85779683	85779683	+	Frame_Shift_Del	DEL	G	G	-																															ccttccatcgccgactctgtGtaaatacctgccccaaaccc																										TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:85779683delG	ENST00000233838.3	-	10	1375	c.1295delC	c.(1294-1296)aafs	p.T432fs	GGCX_ENST00000430215.3_Frame_Shift_Del_p.T375fs|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	432					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CCGACTCTGTGTAAATACCTG	0.512											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	174	---	---	---	---					-	85779683	G	-	85779683	7	5	325	1	0	1	0	1	0	0	0	0	6407	1377	48	0	1005	0	GGCX	2	85779683	Frame_Shift_Del	DEL	G	TCGA-CV-7438-01A-21D-2129-08	48751162	85779683	157419690	13	57702											
CNGA3	1261	broad.mit.edu	37	chr2	99013475	99013475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagacaacctgatcgatgaGgagctggccagggcgggcgc	11	4	16	10	3	0	3	0	2	0	1	1	5	0	4	2	4	2	1	2	4	2	0			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:99013475G>A	ENST00000393504.1	+	8	2259	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	CNGA3_ENST00000409937.1_Silent_p.E618E|CNGA3_ENST00000436404.2_Silent_p.E596E|CNGA3_ENST00000272602.2_Silent_p.E614E	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	614					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGATCGATGAGGAGCTGGCCA	0.622													9	18					0	0	0	0	A	99013475	G	A	99013475	2	1	325	1	0	0	0	0	0	0	0	1	3628	991	35	4		4	CNGA3	2	99013475	Silent	SNP	G	TCGA-CV-7438-01A-21D-2129-08	13233792	99013475	144185898	14	57703			1	88		2	2	19	N	G_C	6.62839e-05
CNGA3	1261	broad.mit.edu	37	chr2	99013493	99013493	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagctggccagggcgggCgcggaccccaaggaccttga	8	3	18	12	3	0	1	0	1	0	0	0	5	0	4	4	6	1	1	4	6	1	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:99013493C>T	ENST00000393504.1	+	8	2277	c.1860C>T	c.(1858-1860)ggC>ggT	p.G620G	CNGA3_ENST00000409937.1_Silent_p.G624G|CNGA3_ENST00000436404.2_Silent_p.G602G|CNGA3_ENST00000272602.2_Silent_p.G620G	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	620					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CCAGGGCGGGCGCGGACCCCA	0.622													3	17					0	0	0	0	T	99013493	C	T	99013493	2	4	325	1	0	0	0	0	0	0	0	1	3628	755	27	1		1	CNGA3	2	99013493	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	18	99013493	144185880	15	57704			1	88		2	2	19	N	G_C	6.62839e-05
EPB41L5	57669	broad.mit.edu	37	chr2	120925517	120925517	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacagggaaggagggacAtggtaataaagatggaatct	15	9	14	3	0	1	2	0	1	1	1	1	6	1	6	0	5	0	1	0	5	5	3	rs143558813	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:120925517A>C	ENST00000263713.5	+	24	2283	c.2069A>C	c.(2068-2070)cAt>cCt	p.H690P	EPB41L5_ENST00000488691.1_3'UTR|EPB41L5_ENST00000452780.1_Missense_Mutation_p.H689P|EPB41L5_ENST00000443902.2_Intron	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	690						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AAGGAGGGACATGGTAATAAA	0.453													5	100					0	0	0	0	C	120925517	A	C	120925517	3	2	325	1	0	0	0	0	1	0	0	0	5195	217	8	5	2344	5	EPB41L5	2	120925517	Missense_Mutation	SNP	A	TCGA-CV-7438-01A-21D-2129-08	21912024	120925517	122273856	16	57705											
NEB	4703	broad.mit.edu	37	chr2	152539240	152539240	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggacccaaaaggcacccagCcacaacctttcatccagcta	14	5	6	16	0	1	0	1	0	0	0	2	1	2	1	5	2	3	2	5	2	4	2			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:152539240C>G	ENST00000397345.3	-	29	3081	c.2879G>C	c.(2878-2880)gGc>gCc	p.G960A	NEB_ENST00000604864.1_Missense_Mutation_p.G960A|NEB_ENST00000172853.10_Missense_Mutation_p.G960A|NEB_ENST00000603639.1_Missense_Mutation_p.G960A|NEB_ENST00000409198.1_Missense_Mutation_p.G960A|NEB_ENST00000427231.2_Missense_Mutation_p.G960A	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	960					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGCACCCAGCCACAACCTTT	0.438													3	19					0	0	0	0	G	152539240	C	G	152539240	3	3	325	1	0	0	0	0	1	0	0	0	10372	739	26	4	23423	4	NEB	2	152539240	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	31613723	152539240	90660133	17	57706											
HOXD3	3232	broad.mit.edu	37	chr2	177036312	177036312	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacgcacggcatacacgagCgcgcagctggtggaattgga	10	6	15	10	5	0	0	0	0	0	0	0	3	0	2	0	4	4	5	0	4	3	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:177036312C>T	ENST00000468418.3	+	4	2699	c.609C>T	c.(607-609)agC>agT	p.S203S	HOXD3_ENST00000410016.1_Silent_p.S203S|HOXD3_ENST00000249440.3_Silent_p.S203S			P31249	HXD3_HUMAN	homeobox D3	203					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CATACACGAGCGCGCAGCTGG	0.642													11	35					0	0	0	0	T	177036312	C	T	177036312	2	4	325	1	0	0	0	0	0	0	0	1	7373	767	27	1		1	HOXD3	2	177036312	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	24497072	177036312	66163061	18	57707											
FN1	2335	broad.mit.edu	37	chr2	216274717	216274717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtcacttcttggtggcCgtactgctggatgctgatga	6	12	14	9	2	2	2	1	2	1	0	2	4	2	3	1	3	3	3	1	3	1	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:216274717C>T	ENST00000354785.4	-	14	2431	c.2062G>A	c.(2062-2064)Ggc>Agc	p.G688S	FN1_ENST00000421182.1_Missense_Mutation_p.G688S|FN1_ENST00000356005.4_Missense_Mutation_p.G688S|FN1_ENST00000323926.6_Missense_Mutation_p.G688S|FN1_ENST00000346544.3_Missense_Mutation_p.G688S|FN1_ENST00000345488.5_Missense_Mutation_p.G688S|FN1_ENST00000336916.4_Missense_Mutation_p.G688S|FN1_ENST00000443816.1_Missense_Mutation_p.G688S|FN1_ENST00000432072.2_Missense_Mutation_p.G688S|FN1_ENST00000359671.1_Missense_Mutation_p.G688S|FN1_ENST00000446046.1_Missense_Mutation_p.G688S|FN1_ENST00000357867.4_Missense_Mutation_p.G688S|FN1_ENST00000357009.2_Missense_Mutation_p.G688S			P02751	FINC_HUMAN	fibronectin 1	688	Fibronectin type-III 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTTGGTGGCCGTACTGCTGG	0.552													19	94					0	0	0	0	T	216274717	C	T	216274717	3	4	325	1	0	0	0	0	1	0	0	0	6007	652	23	1	5503	1	FN1	2	216274717	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	39238405	216274717	26924656	19	57708											
NCL	4691	broad.mit.edu	37	chr2	232326268	232326285	+	In_Frame_Del	DEL	TCGTCATCCTCATCATCT	TCGTCATCCTCATCATCT	-																															taccatcttcctcatcgtcaTcgtcatcctcatcatcttcg																								rs80005798	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:232326268_232326285delTCGTCATCCTCATCATCT	ENST00000322723.4	-	3	819_836	c.579_596delAGATGATGAGGATGACGA	c.(577-597)gat>ga	p.EDDEDDD193del		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	193	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ctcatcgtcatcgtcatcctcatcatcttcgtcatcct	0.482													21	85	---	---	---	---					-	232326285	TCGTCATCCTCATCATCT	-	232326268	7	5	325	1	0	1	0	1	0	0	0	0	10296	1435	50	0	1584	0	NCL	2	232326268	In_Frame_Del	DEL	TCGTCATCCTCATCATCT	TCGA-CV-7438-01A-21D-2129-08	16051551	232326268	10873105	20	57709											
CPNE9	151835	broad.mit.edu	37	chr3	9757188	9757188	+	Missense_Mutation	SNP	A	A	T																															tcggaagaaatgtaagaagaAgaaatatgtcaactcaggaa																										TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:9757188A>T	ENST00000383832.3	+	13	990	c.800A>T	c.(799-801)aAg>aTg	p.K267M	CPNE9_ENST00000383831.3_Missense_Mutation_p.K267M	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	267	Poly-Lys.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TGTAAGAAGAAGAAATATGTC	0.498													25	43					0	0	0	0	T	9757188	A	T	9757188	3	4	325	1	0	0	0	0	1	0	0	0	3849	72	3	5	846	5	CPNE9	3	9757188	Missense_Mutation	SNP	A	TCGA-CV-7438-01A-21D-2129-08		9757188	188265242	21	57710	471	2									
CPNE9	151835	broad.mit.edu	37	chr3	9757198	9757198	+	Silent	SNP	C	C	T																															tgtaagaagaagaaatatgtCaactcaggaactgtgagtgc																										TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:9757198C>T	ENST00000383832.3	+	13	1000	c.810C>T	c.(808-810)gtC>gtT	p.V270V	CPNE9_ENST00000383831.3_Silent_p.V270V	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	270										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					AGAAATATGTCAACTCAGGAA	0.512													21	35					0	0	0	0	T	9757198	C	T	9757198	2	4	325	1	0	0	0	0	0	0	0	1	3849	813	29	2		2	CPNE9	3	9757198	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	10	9757198	188265232	22	57711	471	2									
TGM4	7047	broad.mit.edu	37	chr3	44952543	44952543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcagaggtttcatcattgCggaaattgtggagtctaagg	11	13	12	5	1	4	1	3	0	1	1	4	3	4	3	0	4	1	1	0	4	3	5			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:44952543C>T	ENST00000296125.4	+	12	1768	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	567					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTCATCATTGCGGAAATTGTG	0.453													14	61					0	0	0	0	T	44952543	C	T	44952543	3	4	325	1	0	0	0	0	1	0	0	0	15926	768	27	1	1746	1	TGM4	3	44952543	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	35195345	44952543	153069887	23	57712											
SETD2	29072	broad.mit.edu	37	chr3	47098467	47098467	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaatcccaaacactataAttctgtccctgaactgggcc	11	12	6	12	0	1	2	0	2	1	0	3	2	3	2	3	1	2	0	3	1	5	4			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:47098467A>C	ENST00000409792.3	-	15	6849	c.6807T>G	c.(6805-6807)aaT>aaG	p.N2269K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2269	Gln-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAACACTATAATTCTGTCCCT	0.512			"N, F, S, Mis"		clear cell renal carcinoma								17	48					0	0	0	0	C	47098467	A	C	47098467	3	2	325	1	0	0	0	0	1	0	0	0	14218	98	4	5	915	5	SETD2	3	47098467	Missense_Mutation	SNP	A	TCGA-CV-7438-01A-21D-2129-08	2145924	47098467	150923963	24	57713											
USP4	7375	broad.mit.edu	37	chr3	49362439	49362439	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcacgctccgcagggatgTtgaatagcttccgcatctct	7	13	9	12	3	2	1	1	1	1	0	5	2	4	2	2	1	1	5	2	1	2	4			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:49362439T>G	ENST00000351842.4	-	5	529	c.521A>C	c.(520-522)aAc>aCc	p.N174T	USP4_ENST00000265560.4_Missense_Mutation_p.N174T|USP4_ENST00000415188.1_Missense_Mutation_p.N174T|USP4_ENST00000416417.1_Missense_Mutation_p.N174T	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	174					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CGCAGGGATGTTGAATAGCTT	0.498													21	109					0	0	0	0	G	49362439	T	G	49362439	3	3	325	1	0	0	0	0	1	0	0	0	17167	1725	60	5	2442	5	USP4	3	49362439	Missense_Mutation	SNP	T	TCGA-CV-7438-01A-21D-2129-08	2263972	49362439	148659991	25	57714											
TWF2	11344	broad.mit.edu	37	chr3	52263196	52263196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggaactctgccgtcagctCtgccccatcgccaatctcaa	9	8	8	16	2	4	0	2	0	3	0	6	2	4	1	4	1	4	1	4	1	3	0			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:52263196C>T	ENST00000305533.5	-	9	1147	c.904G>A	c.(904-906)Gag>Aag	p.E302K	TLR9_ENST00000597542.1_Intron|TLR9_ENST00000494383.1_Intron|TWF2_ENST00000499914.2_3'UTR	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCGTCAGCTCTGCCCCATCG	0.652													4	60					0	0	0	0	T	52263196	C	T	52263196	3	4	325	1	0	0	0	0	1	0	0	0	16878	922	32	2	149	2	TWF2	3	52263196	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	2900757	52263196	145759234	26	57715											
SFMBT1	51460	broad.mit.edu	37	chr3	52941219	52941219	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggagcatgactttttttCtgacatttctgattcttcct	8	18	7	8	0	3	4	0	3	3	1	4	5	4	5	1	1	1	1	1	1	0	6			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:52941219C>G	ENST00000394752.3	-	19	2579	c.2197G>C	c.(2197-2199)Gaa>Caa	p.E733Q	SFMBT1_ENST00000358080.2_Missense_Mutation_p.E733Q|SFMBT1_ENST00000394750.1_Missense_Mutation_p.E733Q|SFMBT1_ENST00000296295.6_Missense_Mutation_p.E733Q	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	733					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GACTTTTTTTCTGACATTTCT	0.463													8	87					0	0	0	0	G	52941219	C	G	52941219	3	3	325	1	0	0	0	0	1	0	0	0	14244	922	32	2	415	2	SFMBT1	3	52941219	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	678023	52941219	145081211	27	57716											
EPHA6	285220	broad.mit.edu	37	chr3	97202858	97202858	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagtccatgaatttgcaaagGagattgatccctcaagaatt	14	11	8	8	0	1	4	1	2	0	2	3	5	3	4	2	1	1	1	2	1	4	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:97202858G>C	ENST00000389672.5	+	10	2193	c.2155G>C	c.(2155-2157)Gag>Cag	p.E719Q	EPHA6_ENST00000442602.2_Missense_Mutation_p.E85Q|EPHA6_ENST00000514100.1_Missense_Mutation_p.E111Q|EPHA6_ENST00000502694.1_Missense_Mutation_p.E111Q	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	624	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATTTGCAAAGGAGATTGATCC	0.378													10	25					0	0	0	0	C	97202858	G	C	97202858	3	2	325	1	0	0	0	0	1	0	0	0	5209	1175	41	2	2261	2	EPHA6	3	97202858	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	44261639	97202858	100819572	28	57717											
IMPG2	50939	broad.mit.edu	37	chr3	100963246	100963246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actagtttcttgtcttcaatCtcagctggcaaaagtgaatc	11	14	7	9	0	4	1	2	1	3	0	6	1	4	1	0	1	1	3	0	1	5	4			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:100963246C>T	ENST00000193391.7	-	13	2116	c.1929G>A	c.(1927-1929)gaG>gaA	p.E643E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	643					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGTCTTCAATCTCAGCTGGCA	0.413													28	90					0	0	0	0	T	100963246	C	T	100963246	2	4	325	1	0	0	0	0	0	0	0	1	7782	912	32	2		2	IMPG2	3	100963246	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	3760388	100963246	97059184	29	57718											
PODXL2	50512	broad.mit.edu	37	chr3	127379692	127379692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacagtgctgccagctgcagGgcttggggtagagttcgagg	7	8	17	9	1	0	1	0	0	0	1	1	2	0	1	1	4	4	6	1	4	1	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:127379692G>A	ENST00000342480.6	+	3	860	c.821G>A	c.(820-822)gGg>gAg	p.G274E		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	274					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CCAGCTGCAGGGCTTGGGGTA	0.637													7	45					0	0	0	0	A	127379692	G	A	127379692	3	1	325	1	0	0	0	0	1	0	0	0	12253	1232	43	4	831	4	PODXL2	3	127379692	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	26416446	127379692	70642738	30	57719											
IFT122	55764	broad.mit.edu	37	chr3	129180117	129180117	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctacaatcctattactcatCaactggcatcttgttcctcc	9	14	3	15	0	3	0	2	0	1	0	6	0	6	0	4	1	3	2	4	1	5	5			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:129180117C>T	ENST00000296266.3	+	6	664	c.472C>T	c.(472-474)Caa>Taa	p.Q158*	IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000348417.2_Nonsense_Mutation_p.Q107*|IFT122_ENST00000507564.1_Nonsense_Mutation_p.Q158*|IFT122_ENST00000347300.2_Nonsense_Mutation_p.Q107*|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000440957.2_5'UTR	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	107					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TATTACTCATCAACTGGCATC	0.398													15	53					0	0	0	0	T	129180117	C	T	129180117	4	4	325	1	0	0	0	0	0	1	0	0	7608	827	29	2	494	2	IFT122	3	129180117	Nonsense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	1800425	129180117	68842313	31	57720											
PIK3CA	5290	broad.mit.edu	37	chr3	178937422	178937422	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctatggaacttctggacTgtaattacccagatcctatg	11	12	9	9	0	1	1	0	0	1	1	2	3	2	3	2	3	2	2	2	3	5	5			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:178937422T>C	ENST00000263967.3	+	12	1967	c.1810T>C	c.(1810-1812)Tgt>Cgt	p.C604R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	604	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C604R(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACTTCTGGACTGTAATTACCC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	35					0	0	0	0	C	178937422	T	C	178937422	3	2	325	1	0	0	0	0	1	0	0	0	11985	1580	55	5	1852	5	PIK3CA	3	178937422	Missense_Mutation	SNP	T	TCGA-CV-7438-01A-21D-2129-08	49757305	178937422	19085008	32	57721											
DVL3	1857	broad.mit.edu	37	chr3	183882981	183882981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggcggaagcagaaggtttCtcggattgagcgggtatggg	8	8	19	6	4	1	2	0	1	1	1	2	4	1	4	0	6	2	3	0	6	3	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:183882981C>T	ENST00000313143.3	+	6	928	c.680C>T	c.(679-681)tCt>tTt	p.S227F	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.S227F	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	227					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CAGAAGGTTTCTCGGATTGAG	0.597													13	30					0	0	0	0	T	183882981	C	T	183882981	3	4	325	1	0	0	0	0	1	0	0	0	4873	913	32	2	702	2	DVL3	3	183882981	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	4945559	183882981	14139449	33	57722											
ZNF718	255403	broad.mit.edu	37	chr4	154749	154749	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttggacagtgcagggcataGaagattcattccacaaactt	13	11	9	8	0	1	2	1	0	0	2	2	3	2	3	1	2	2	2	1	2	3	5			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr4:154749G>C	ENST00000510175.1	+	0	184							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GCAGGGCATAGAAGATTCATT	0.328													9	39					0	0	0	0	C	154749	G	C	154749	1	2	325	0	1	0	0	0	0	0	0	0	18215	943	33	2		2	ZNF718	4	154749	RNA	SNP	G	TCGA-CV-7438-01A-21D-2129-08		154749	190999527	34	57723											
WFS1	7466	broad.mit.edu	37	chr4	6303197	6303197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcctggggctgctccgcGcctccatcggctacttcctc	2	9	11	19	4	0	0	0	0	0	0	5	0	3	0	6	4	2	3	6	4	1	2	rs55814513	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr4:6303197G>A	ENST00000226760.1	+	8	1845	c.1675G>A	c.(1675-1677)Gcc>Acc	p.A559T	WFS1_ENST00000503569.1_Missense_Mutation_p.A559T	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	559			A -> T (in dbSNP:rs55814513).		endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCTGCTCCGCGCCTCCATCGG	0.652													6	100					0	0	0	0	A	6303197	G	A	6303197	3	1	325	1	0	0	0	0	1	0	0	0	17456	1087	38	1	1701	1	WFS1	4	6303197	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	6148448	6303197	184851079	35	57724											
CDH10	1008	broad.mit.edu	37	chr5	24488189	24488189	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagctcacaatgttgtctctGatatcttcttttgacaagat	10	17	6	8	0	4	3	1	2	3	1	5	3	4	3	0	0	1	2	0	0	4	6			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:24488189G>C	ENST00000264463.4	-	12	2457	c.1950C>G	c.(1948-1950)atC>atG	p.I650M	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	650					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGTTGTCTCTGATATCTTCTT	0.428										HNSCC(23;0.051)			6	51					0	0	0	0	C	24488189	G	C	24488189	3	2	325	1	0	0	0	0	1	0	0	0	3125	1280	45	2	420	2	CDH10	5	24488189	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08		24488189	156427071	36	57725											
SV2C	22987	broad.mit.edu	37	chr5	75427937	75427937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatgagtacaaggaccggcGggagctggaatcagaaagga	14	4	16	7	3	1	2	1	1	0	1	1	7	1	6	1	5	2	2	1	5	4	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:75427937G>A	ENST00000502798.2	+	2	804	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	SV2C_ENST00000322285.7_Missense_Mutation_p.R121Q	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	121					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AAGGACCGGCGGGAGCTGGAA	0.547													7	49					0	0	0	0	A	75427937	G	A	75427937	3	1	325	1	0	0	0	0	1	0	0	0	15509	1116	39	1	364	1	SV2C	5	75427937	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	50939748	75427937	105487323	37	57726											
PCDHA3	56145	broad.mit.edu	37	chr5	140180884	140180884	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggccagctccactactcCgtctctgaggaggccaagca	9	6	11	15	2	1	1	0	1	1	0	4	2	3	2	4	3	4	2	4	3	2	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:140180884C>A	ENST00000522353.2	+	1	102	c.102C>A	c.(100-102)tcC>tcA	p.S34S	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S34S|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACTACTCCGTCTCTGAGG	0.667													26	73					1.85244e-09	2.0822e-09	1	0	A	140180884	C	A	140180884	2	1	325	1	0	0	0	0	0	0	0	1	11596	639	23	3		3	PCDHA3	5	140180884	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	64752947	140180884	40734376	38	57727											
PCDHB14	56122	broad.mit.edu	37	chr5	140605383	140605383	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttcaaatttctgaagcCgattatccccaattttcaag	12	14	6	9	1	3	2	2	2	1	0	4	3	4	2	3	0	1	1	3	0	5	5			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:140605383C>A	ENST00000239449.4	+	1	2306	c.2306C>A	c.(2305-2307)cCg>cAg	p.P769Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P616Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		769					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCTGAAGCCGATTATCCCC	0.453													8	90					5.4927e-09	6.07971e-09	1	0	A	140605383	C	A	140605383	3	1	325	1	0	0	0	0	1	0	0	0	11610	652	23	3	2308	3	PCDHB14	5	140605383	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	424499	140605383	40309877	39	57728											
SLIT3	6586	broad.mit.edu	37	chr5	168112816	168112816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcgaagcctggtgggcagCggcaggtgggctcctgctgc	4	6	19	12	3	0	0	0	0	0	0	1	1	1	0	2	6	4	4	2	6	1	0			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:168112816C>T	ENST00000519560.1	-	31	3850	c.3431G>A	c.(3430-3432)cGc>cAc	p.R1144H	SLIT3_ENST00000332966.8_Missense_Mutation_p.R1151H|SLIT3_ENST00000404867.3_Missense_Mutation_p.R1144H	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1144	EGF-like 6.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGGCAGCGGCAGGTGGG	0.647													4	20					0	0	0	0	T	168112816	C	T	168112816	3	4	325	1	0	0	0	0	1	0	0	0	14829	768	27	1	1164	1	SLIT3	5	168112816	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	27507433	168112816	12802444	40	57729											
SLC39A7	7922	broad.mit.edu	37	chr6	33169860	33169860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttccagaacctcattctCaccacactctggagcaaccc	10	10	4	17	0	4	1	2	0	3	1	6	2	5	2	4	1	3	1	4	1	2	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:33169860C>G	ENST00000374677.3	+	3	965	c.592C>G	c.(592-594)Cac>Gac	p.H198D	SLC39A7_ENST00000374675.3_Missense_Mutation_p.H198D	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	198						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ACCTCATTCTCACCACACTCT	0.527													13	68					0	0	0	0	G	33169860	C	G	33169860	3	3	325	1	0	0	0	0	1	0	0	0	14711	826	29	2	602	2	SLC39A7	6	33169860	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08		33169860	137945207	41	57730											
FILIP1	27145	broad.mit.edu	37	chr6	76024909	76024909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttttcttgttcaaggagCttttttaacctagaaaataa	12	16	6	7	0	2	1	1	0	1	1	2	2	2	2	2	1	2	2	2	1	6	9			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:76024909C>A	ENST00000393004.2	-	5	860	c.639G>T	c.(637-639)aaG>aaT	p.K213N	FILIP1_ENST00000370020.1_Missense_Mutation_p.K114N|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.K213N			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	213										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTTCAAGGAGCTTTTTTAACC	0.299													7	29					8.12818e-05	8.66608e-05	1	0	A	76024909	C	A	76024909	3	1	325	1	0	0	0	0	1	0	0	0	5939	796	28	4	3010	4	FILIP1	6	76024909	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	42855049	76024909	95090158	42	57731											
SOBP	55084	broad.mit.edu	37	chr6	107854757	107854757	+	Silent	SNP	C	C	T																															atgggaagtgaggtgaaaagCttctgcagcgagaagtgctt																										TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:107854757C>T	ENST00000317357.5	+	4	1175	c.516C>T	c.(514-516)agC>agT	p.S172S		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	172							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AGGTGAAAAGCTTCTGCAGCG	0.512													31	115					0	0	0	0	T	107854757	C	T	107854757	2	4	325	1	0	0	0	0	0	0	0	1	15000	796	28	4		4	SOBP	6	107854757	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	31829848	107854757	63260310	43	57732	472	2									
SOBP	55084	broad.mit.edu	37	chr6	107854759	107854759	+	Missense_Mutation	SNP	T	T	G																															gggaagtgaggtgaaaagctTctgcagcgagaagtgctttg																										TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:107854759T>G	ENST00000317357.5	+	4	1177	c.518T>G	c.(517-519)tTc>tGc	p.F173C		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	173							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GTGAAAAGCTTCTGCAGCGAG	0.517													29	115					0	0	0	0	G	107854759	T	G	107854759	3	3	325	1	0	0	0	0	1	0	0	0	15000	1783	62	5	532	5	SOBP	6	107854759	Missense_Mutation	SNP	T	TCGA-CV-7438-01A-21D-2129-08	2	107854759	63260308	44	57733	472	2									
LAMA4	3910	broad.mit.edu	37	chr6	112441515	112441515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggccatcattgtatttctCctggcttctaatcttcagtt	7	17	6	11	0	5	0	2	0	3	0	6	0	5	0	2	2	0	3	2	2	2	7			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:112441515C>T	ENST00000230538.7	-	33	5033	c.4636G>A	c.(4636-4638)Gag>Aag	p.E1546K	LAMA4_ENST00000522006.1_Missense_Mutation_p.E1539K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E1539K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E1539K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1546	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTGTATTTCTCCTGGCTTCTA	0.418													21	68					0	0	0	0	T	112441515	C	T	112441515	3	4	325	1	0	0	0	0	1	0	0	0	8661	864	30	2	863	2	LAMA4	6	112441515	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	4586756	112441515	58673552	45	57734											
IGF2R	3482	broad.mit.edu	37	chr6	160453983	160453983	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtttttaggttcatcctAtatttcagatggaaaagaat	12	16	7	6	0	2	2	2	0	0	2	3	3	3	3	2	2	0	2	2	2	6	7			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:160453983A>G	ENST00000356956.1	+	9	1203	c.1055A>G	c.(1054-1056)tAt>tGt	p.Y352C		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	352					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GGTTCATCCTATATTTCAGAT	0.308													21	74					0	0	0	0	G	160453983	A	G	160453983	3	3	325	1	0	0	0	0	1	0	0	0	7629	449	16	5	1089	5	IGF2R	6	160453983	Missense_Mutation	SNP	A	TCGA-CV-7438-01A-21D-2129-08	48012468	160453983	10661084	46	57735											
UNC93A	54346	broad.mit.edu	37	chr6	167728857	167728857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtatgggcttgtggagtgcGtggagtccaagaacccgatc	8	9	15	9	3	0	1	0	0	0	1	2	4	1	3	2	3	2	2	2	3	3	2			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:167728857G>A	ENST00000230256.3	+	8	1466	c.1291G>A	c.(1291-1293)Gtg>Atg	p.V431M	UNC93A_ENST00000366829.2_Missense_Mutation_p.V389M	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	431						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGTGGAGTGCGTGGAGTCCAA	0.547													21	306					0	0	0	0	A	167728857	G	A	167728857	3	1	325	1	0	0	0	0	1	0	0	0	17092	1145	40	1	1321	1	UNC93A	6	167728857	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	7274874	167728857	3386210	47	57736											
DLL1	28514	broad.mit.edu	37	chr6	170594698	170594698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagccttcctggcagttgCactgccagggctgctggcag	5	8	13	15	0	0	0	0	0	0	0	1	0	1	0	4	3	4	6	4	3	0	2			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:170594698C>T	ENST00000366756.3	-	6	1154	c.821G>A	c.(820-822)tGc>tAc	p.C274Y		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	274	EGF-like 2.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTGGCAGTTGCACTGCCAGGG	0.627													23	45					0	0	0	0	T	170594698	C	T	170594698	3	4	325	1	0	0	0	0	1	0	0	0	4603	710	25	4	1374	4	DLL1	6	170594698	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	2865841	170594698	520369	48	57737											
SDK1	221935	broad.mit.edu	37	chr7	4116798	4116798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcctggtgacttcatccaCcatttcttctggagtgcccc	5	13	9	14	0	3	1	1	1	2	0	4	2	4	2	5	3	1	0	5	3	0	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:4116798C>T	ENST00000404826.2	+	21	3318	c.3179C>T	c.(3178-3180)aCc>aTc	p.T1060I	SDK1_ENST00000389531.3_Missense_Mutation_p.T1060I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1060	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACTTCATCCACCATTTCTTCT	0.562													6	27					0	0	0	0	T	4116798	C	T	4116798	3	4	325	1	0	0	0	0	1	0	0	0	14055	507	18	4	3261	4	SDK1	7	4116798	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08		4116798	155021865	49	57738											
EPO	2056	broad.mit.edu	37	chr7	100320671	100320671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcactgctgacactttccGcaaactcttccgagtctact	10	12	5	14	2	3	1	1	1	2	0	5	2	5	1	2	0	3	2	2	0	3	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:100320671G>A	ENST00000252723.2	+	5	678	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	166					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GACACTTTCCGCAAACTCTTC	0.572													28	134					0	0	0	0	A	100320671	G	A	100320671	3	1	325	1	0	0	0	0	1	0	0	0	5226	1087	38	1	515	1	EPO	7	100320671	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	96203873	100320671	58817992	50	57739											
RELN	5649	broad.mit.edu	37	chr7	103132413	103132413	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaccttgcatccttagTgtattccagcattacggaat	12	12	6	11	1	0	0	0	0	0	0	2	1	2	1	3	1	4	3	3	1	5	5			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:103132413T>C	ENST00000424685.2	-	58	9589	c.9430A>G	c.(9430-9432)Act>Gct	p.T3144A	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.T3144A|RELN_ENST00000428762.1_Missense_Mutation_p.T3144A			P78509	RELN_HUMAN	reelin	3144					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCATCCTTAGTGTATTCCAGC	0.378													7	16					0	0	0	0	C	103132413	T	C	103132413	3	2	325	1	0	0	0	0	1	0	0	0	13302	1696	59	5	984	5	RELN	7	103132413	Missense_Mutation	SNP	T	TCGA-CV-7438-01A-21D-2129-08	2811742	103132413	56006250	51	57740											
NUP205	23165	broad.mit.edu	37	chr7	135323426	135323426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttaatagagatggaccgcGgcaaggtgagcttagttttt	11	12	13	5	2	0	2	0	1	0	1	0	4	0	3	1	3	1	4	1	3	4	5			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:135323426G>A	ENST00000285968.6	+	38	5413	c.5387G>A	c.(5386-5388)cGg>cAg	p.R1796Q		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1796					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GATGGACCGCGGCAAGGTGAG	0.438													43	108					0	0	0	0	A	135323426	G	A	135323426	3	1	325	1	0	0	0	0	1	0	0	0	10830	1116	39	1	5537	1	NUP205	7	135323426	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	32191013	135323426	23815237	52	57741											
TAS2R40	259286	broad.mit.edu	37	chr7	142919983	142919983	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttccacgtccaacatctTtgacacttacagttcctgga	9	14	5	13	1	2	1	0	1	2	0	5	2	5	2	3	1	2	1	3	1	2	4			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:142919983T>C	ENST00000408947.3	+	1	854	c.812T>C	c.(811-813)tTt>tCt	p.F271S		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	271					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TCCAACATCTTTGACACTTAC	0.473													33	86					0	0	0	0	C	142919983	T	C	142919983	3	2	325	1	0	0	0	0	1	0	0	0	15669	1841	64	5	814	5	TAS2R40	7	142919983	Missense_Mutation	SNP	T	TCGA-CV-7438-01A-21D-2129-08	7596557	142919983	16218680	53	57742											
TPD52	7163	broad.mit.edu	37	chr8	80954859	80954859	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatctctctacttgcctttAagttttcgaccttttcttca	6	20	3	12	1	5	0	2	0	3	0	7	1	5	0	2	0	2	1	2	0	2	9			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr8:80954859A>T	ENST00000379096.5	-	5	545	c.431T>A	c.(430-432)tTa>tAa	p.L144*	TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000520527.1_Nonsense_Mutation_p.L207*|TPD52_ENST00000518937.1_Nonsense_Mutation_p.L167*|TPD52_ENST00000448733.2_Nonsense_Mutation_p.L198*|TPD52_ENST00000519303.2_Nonsense_Mutation_p.L20*|TPD52_ENST00000517427.1_Nonsense_Mutation_p.L193*|TPD52_ENST00000537855.1_Nonsense_Mutation_p.L184*|TPD52_ENST00000379097.3_Nonsense_Mutation_p.L184*	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	184					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			ACTTGCCTTTAAGTTTTCGAC	0.308													22	67					0	0	0	0	T	80954859	A	T	80954859	4	4	325	1	0	0	0	0	0	1	0	0	16492	372	13	5	131	5	TPD52	8	80954859	Nonsense_Mutation	SNP	A	TCGA-CV-7438-01A-21D-2129-08		80954859	65409163	54	57743											
UBR5	51366	broad.mit.edu	37	chr8	103359220	103359220	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctcgatcccgtcctgTccgaataactcgagtctgcc	8	9	8	16	4	1	1	0	0	1	1	6	4	4	1	5	0	2	0	5	0	2	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr8:103359220T>A	ENST00000520539.1	-	6	1093	c.487A>T	c.(487-489)Aca>Tca	p.T163S	UBR5_ENST00000220959.4_Missense_Mutation_p.T163S|UBR5_ENST00000521922.1_Missense_Mutation_p.T163S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	163					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCCGTCCTGTCCGAATAACT	0.567													24	197					0	0	0	0	A	103359220	T	A	103359220	3	1	325	1	0	0	0	0	1	0	0	0	17001	1667	58	5	8128	5	UBR5	8	103359220	Missense_Mutation	SNP	T	TCGA-CV-7438-01A-21D-2129-08	22404361	103359220	43004802	55	57744											
RIMS2	9699	broad.mit.edu	37	chr8	104922562	104922562	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtaggggacagtcaaaaGggaaaaagaaaaactagtga	19	5	12	5	0	1	2	1	1	0	1	1	4	1	4	1	3	1	1	1	3	8	2			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr8:104922562G>A	ENST00000262231.10	+	3	1310	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	577					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAGTCAAAAGGGAAAAAGAA	0.368										HNSCC(12;0.0054)			21	116					0	0	0	0	A	104922562	G	A	104922562	2	1	325	1	0	0	0	0	0	0	0	1	13453	1015	35	4		4	RIMS2	8	104922562	Silent	SNP	G	TCGA-CV-7438-01A-21D-2129-08	1563342	104922562	41441460	56	57745											
INSL4	3641	broad.mit.edu	37	chr9	5233770	5233770	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagggcagccatcattgAagaaaataatactttcccgc	14	9	8	10	1	1	3	1	2	0	1	2	3	2	3	2	1	2	1	2	1	6	4			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr9:5233770A>C	ENST00000239316.4	+	2	418	c.313A>C	c.(313-315)Aag>Cag	p.K105Q		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	105					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GCCATCATTGAAGAAAATAAT	0.393													4	66					0	0	0	0	C	5233770	A	C	5233770	3	2	325	1	0	0	0	0	1	0	0	0	7821	247	9	5	319	5	INSL4	9	5233770	Missense_Mutation	SNP	A	TCGA-CV-7438-01A-21D-2129-08		5233770	135979661	57	57746											
PAPPA	5069	broad.mit.edu	37	chr9	119093591	119093591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctggtacccttgcaccatCagctacccatattcccagct	8	10	6	17	0	1	0	1	0	0	0	2	0	2	0	5	1	5	4	5	1	3	5			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr9:119093591C>T	ENST00000328252.3	+	11	3585	c.3216C>T	c.(3214-3216)atC>atT	p.I1072I	PAPPA_ENST00000534838.1_Silent_p.I110I	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1072					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTTGCACCATCAGCTACCCAT	0.473													26	65					0	0	0	0	T	119093591	C	T	119093591	2	4	325	1	0	0	0	0	0	0	0	1	11503	816	29	2		2	PAPPA	9	119093591	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	113859821	119093591	22119840	58	57747											
ADAMTS14	140766	broad.mit.edu	37	chr10	72511852	72511852	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcctgcccaccccataggGatccagttcaccaaatacgg	11	6	8	16	1	1	0	1	0	0	0	2	1	2	1	6	2	3	1	6	2	3	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr10:72511852G>T	ENST00000373208.1	+	18	2607	c.2605_splice	c.e18-1	p.G869_splice	ADAMTS14_ENST00000373207.1_Splice_Site_p.G866_splice	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	866	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACCCCATAGGGATCCAGTTCA	0.662													8	20					0.00307968	0.00318967	1	0	T	72511852	G	T	72511852	5	4	325	1	0	0	0	0	0	0	1	0	259	1188	41	2	2677	2	ADAMTS14	10	72511852	Splice_Site	SNP	G	TCGA-CV-7438-01A-21D-2129-08		72511852	63022895	59	57748											
BLNK	29760	broad.mit.edu	37	chr10	97956812	97956812	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcttttccgaataagaaatGatccatcctgtttaattttt	12	17	5	7	1	0	2	0	1	0	1	3	3	3	2	3	0	1	2	3	0	4	7			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr10:97956812G>C	ENST00000224337.5	-	16	1244	c.1103C>G	c.(1102-1104)tCa>tGa	p.S368*	BLNK_ENST00000427367.2_Intron|BLNK_ENST00000413476.2_Intron|BLNK_ENST00000371176.2_Nonsense_Mutation_p.S345*	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	368	SH2.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AATAAGAAATGATCCATCCTG	0.274													5	36					0	0	0	0	C	97956812	G	C	97956812	4	2	325	1	0	0	0	0	0	1	0	0	1452	1294	45	2	275	2	BLNK	10	97956812	Nonsense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	25444960	97956812	37577935	60	57749											
JAKMIP3	282973	broad.mit.edu	37	chr10	133962932	133962932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaggagagggagaggaagtCacccgccatcagcttccacc	11	5	12	13	1	2	2	2	0	0	2	3	5	3	3	4	3	1	1	4	3	2	2			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr10:133962932C>T	ENST00000298622.4	+	14	2003	c.1865C>T	c.(1864-1866)tCa>tTa	p.S622L	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAGAGGAAGTCACCCGCCATC	0.647													6	12					0	0	0	0	T	133962932	C	T	133962932	3	4	325	1	0	0	0	0	1	0	0	0	7995	838	29	2	1919	2	JAKMIP3	10	133962932	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	36006120	133962932	1571815	61	57750											
ART1	417	broad.mit.edu	37	chr11	3680852	3680852	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgacgagacctcttctctCaagagattcagctggacatg	11	9	9	12	2	4	2	2	0	2	2	5	6	4	3	1	1	1	1	1	1	1	2			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:3680852C>G	ENST00000250693.1	+	3	204	c.103C>G	c.(103-105)Caa>Gaa	p.Q35E		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	35					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CCTCTTCTCTCAAGAGATTCA	0.602													12	38					0	0	0	0	G	3680852	C	G	3680852	3	3	325	1	0	0	0	0	1	0	0	0	1001	827	29	2	109	2	ART1	11	3680852	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08		3680852	131325664	62	57751											
RIC3	79608	broad.mit.edu	37	chr11	8158952	8158953	+	Frame_Shift_Ins	INS	-	-	T																															attaggtcccactctgttgaINSttaatttttccatggctgct																										TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:8158952_8158953insT	ENST00000343202.4	-	4	558_559	c.493_494insA	c.(493-495)caafs	p.Q165fs	RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000309737.6_Frame_Shift_Ins_p.Q165fs|RIC3_ENST00000539720.1_Frame_Shift_Ins_p.Q116fs	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	165				I -> F (in Ref. 6; AAH22455).		endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CACTCTGTTGATTAATTTTTCC	0.411													7	166	---	---	---	---					T	8158953	-	T	8158952	7	5	325	1	0	1	1	0	0	0	0	0	13437	333	12	0	624	0	RIC3	11	8158952	Frame_Shift_Ins	INS	-	TCGA-CV-7438-01A-21D-2129-08	4478100	8158952	126847564	63	57752											
KIF18A	81930	broad.mit.edu	37	chr11	28084055	28084055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgacaatgaagatctttCttgagttcctagggcaaaca	12	12	10	7	0	2	4	0	3	2	1	3	4	3	4	1	2	1	2	1	2	4	4			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:28084055C>A	ENST00000263181.6	-	12	1889	c.1599G>T	c.(1597-1599)aaG>aaT	p.K533N		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	533					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GAAGATCTTTCTTGAGTTCCT	0.323													22	49					4.4004e-07	4.79743e-07	1	0	A	28084055	C	A	28084055	3	1	325	1	0	0	0	0	1	0	0	0	8331	912	32	2	1121	2	KIF18A	11	28084055	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	19925103	28084055	106922461	64	57753											
SCYL1	57410	broad.mit.edu	37	chr11	65304114	65304114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagccgcagctagctgggCaggctgggccgtgaccgggg	6	4	20	11	3	0	1	0	1	0	0	0	2	0	2	3	6	3	5	3	6	1	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:65304114C>T	ENST00000524944.1	+	13	1742	c.1709C>T	c.(1708-1710)gCa>gTa	p.A570V	SCYL1_ENST00000420247.2_Missense_Mutation_p.A570V|SCYL1_ENST00000525364.1_Missense_Mutation_p.A570V|SCYL1_ENST00000533862.1_Missense_Mutation_p.A570V|SCYL1_ENST00000270176.5_Missense_Mutation_p.A570V|SCYL1_ENST00000527630.1_Missense_Mutation_p.A570V|SCYL1_ENST00000279270.6_Missense_Mutation_p.A570V|SCYL1_ENST00000527009.1_Missense_Mutation_p.A427V			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	570					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GCTAGCTGGGCAGGCTGGGCC	0.627													12	67					0	0	0	0	T	65304114	C	T	65304114	3	4	325	1	0	0	0	0	1	0	0	0	14034	710	25	4	1759	4	SCYL1	11	65304114	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	37220059	65304114	69702402	65	57754											
SYT12	91683	broad.mit.edu	37	chr11	66811318	66811318	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctctatttacaggaccaGaacaaggtaagtgacttgcc	12	10	10	9	0	1	2	0	1	1	1	1	3	1	3	2	3	3	2	2	3	5	5			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:66811318G>A	ENST00000393946.2	+	8	1993	c.831G>A	c.(829-831)caG>caA	p.Q277Q	SYT12_ENST00000527043.1_Silent_p.Q277Q|SYT12_ENST00000525457.1_Silent_p.Q277Q			Q8IV01	SYT12_HUMAN	synaptotagmin XII	277						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TACAGGACCAGAACAAGGTAA	0.552													14	49					0	0	0	0	A	66811318	G	A	66811318	2	1	325	1	0	0	0	0	0	0	0	1	15559	933	33	2		2	SYT12	11	66811318	Silent	SNP	G	TCGA-CV-7438-01A-21D-2129-08	1507204	66811318	68195198	66	57755											
ANO1	55107	broad.mit.edu	37	chr11	70007358	70007358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactcctccccctccgtgcGgtccaacatccgggtcacag	7	7	9	18	3	1	0	1	0	0	0	6	1	6	0	6	2	3	0	6	2	2	0			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:70007358G>A	ENST00000355303.5	+	17	1975	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q	ANO1_ENST00000316296.5_Missense_Mutation_p.R499Q|ANO1_ENST00000398543.2_Missense_Mutation_p.R411Q|ANO1_ENST00000538023.1_Missense_Mutation_p.R557Q|ANO1_ENST00000531349.1_Missense_Mutation_p.R266Q|ANO1_ENST00000530676.1_Missense_Mutation_p.R411Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	557					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCCTCCGTGCGGTCCAACATC	0.592													23	69					0	0	0	0	A	70007358	G	A	70007358	3	1	325	1	0	0	0	0	1	0	0	0	694	1116	39	1	1736	1	ANO1	11	70007358	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	3196040	70007358	64999158	67	57756											
FZD4	8322	broad.mit.edu	37	chr11	86662820	86662820	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcctgctgccaaaaaccaAgtgagtgtcagaataaccca	15	7	8	11	0	1	2	1	1	0	1	2	2	2	2	4	0	4	1	4	0	5	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:86662820A>G	ENST00000531380.1	-	2	1283	c.978T>C	c.(976-978)acT>acC	p.T326T	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	326					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCAAAAACCAAGTGAGTGTCA	0.453													4	22					0	0	0	0	G	86662820	A	G	86662820	2	3	325	1	0	0	0	0	0	0	0	1	6180	59	3	5		5	FZD4	11	86662820	Silent	SNP	A	TCGA-CV-7438-01A-21D-2129-08	16655462	86662820	48343696	68	57757											
WNK1	65125	broad.mit.edu	37	chr12	989016	989016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatctgctacaacagctgCgatcccgggggtatcaactg	9	10	10	12	2	3	0	2	0	1	0	4	1	4	0	1	2	6	3	1	2	4	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:989016C>T	ENST00000315939.6	+	11	3294	c.2651C>T	c.(2650-2652)gCg>gTg	p.A884V	WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.A1382V|WNK1_ENST00000340908.4_Missense_Mutation_p.A477V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	884					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACAACAGCTGCGATCCCGGGG	0.547													25	95					0	0	0	0	T	989016	C	T	989016	3	4	325	1	0	0	0	0	1	0	0	0	17473	768	27	1	4195	1	WNK1	12	989016	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08		989016	132862879	69	57758											
FKBP4	2288	broad.mit.edu	37	chr12	2909727	2909727	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggccttctctgctgccaTtgaaagctgtaacaaggtga	11	10	10	10	0	1	2	0	2	1	0	2	2	1	2	2	2	4	3	2	2	3	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:2909727T>C	ENST00000001008.4	+	8	1203	c.1016T>C	c.(1015-1017)aTt>aCt	p.I339T	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	339	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	TCTGCTGCCATTGAAAGCTGT	0.532													9	39					0	0	0	0	C	2909727	T	C	2909727	3	2	325	1	0	0	0	0	1	0	0	0	5955	1493	52	5	1046	5	FKBP4	12	2909727	Missense_Mutation	SNP	T	TCGA-CV-7438-01A-21D-2129-08	1920711	2909727	130942168	70	57759											
SPSB2	84727	broad.mit.edu	37	chr12	6981568	6981569	+	Frame_Shift_Del	DEL	TC	TC	-																															atgtccagaaccaccagcagTctctctggcacctccagctg																										TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:6981568_6981569delTC	ENST00000519357.1	-	2	683_684	c.497_498delGA	c.(496-498)afs	p.R166fs	SPSB2_ENST00000523102.1_Frame_Shift_Del_p.R166fs|SPSB2_ENST00000524270.1_Frame_Shift_Del_p.R166fs			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	166	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCACCAGCAGTCTCTCTGGCAC	0.644											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	77	---	---	---	---					-	6981569	TC	-	6981568	7	5	325	1	0	1	0	1	0	0	0	0	15203	1664	58	0	301	0	SPSB2	12	6981568	Frame_Shift_Del	DEL	TC	TCGA-CV-7438-01A-21D-2129-08	4071841	6981568	126870327	71	57760											
PDE3A	5139	broad.mit.edu	37	chr12	20801805	20801805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaaacactttgacttcGtagccaaatttaatggcaag	15	11	8	7	1	0	3	0	2	0	1	1	3	0	3	1	1	2	2	1	1	6	5	rs148455779		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:20801805G>A	ENST00000359062.3	+	13	2789	c.2749G>A	c.(2749-2751)Gta>Ata	p.V917I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	917	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTTTGACTTCGTAGCCAAATT	0.363													18	60					0	0	0	0	A	20801805	G	A	20801805	3	1	325	1	0	0	0	0	1	0	0	0	11708	1145	40	1	2799	1	PDE3A	12	20801805	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	13820237	20801805	113050090	72	57761											
ESPL1	9700	broad.mit.edu	37	chr12	53680134	53680134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacccaagctctccaagcttCcctgaatcataaaacacccc	13	7	3	18	0	2	1	1	1	1	0	4	1	3	1	5	0	3	2	5	0	5	2			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:53680134C>T	ENST00000257934.4	+	18	3705	c.3614C>T	c.(3613-3615)tCc>tTc	p.S1205F	ESPL1_ENST00000552462.1_Missense_Mutation_p.S1205F	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1205					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTCCAAGCTTCCCTGAATCAT	0.587													28	99					0	0	0	0	T	53680134	C	T	53680134	3	4	325	1	0	0	0	0	1	0	0	0	5291	855	30	2	3680	2	ESPL1	12	53680134	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	32878329	53680134	80171761	73	57762											
LRP1	4035	broad.mit.edu	37	chr12	57571375	57571375	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcctttggattgacgccagGtcagcaccctctgtgccctg	6	11	10	14	1	2	1	1	1	1	0	3	2	3	2	4	2	2	1	4	2	0	2			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:57571375G>T	ENST00000243077.3	+	26	4827		c.e26+1			NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1						aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTGACGCCAGGTCAGCACCCT	0.652													9	19					2.74318e-10	3.10751e-10	1	0	T	57571375	G	T	57571375	5	4	325	1	0	0	0	0	0	0	1	0	9015	1275	44	4	4464	4	LRP1	12	57571375	Splice_Site	SNP	G	TCGA-CV-7438-01A-21D-2129-08	3891241	57571375	76280520	74	57763											
LRIG3	121227	broad.mit.edu	37	chr12	59272720	59272720	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaagaacacgtcatcctCgggcatcacatgcatgcgtc	12	8	9	12	3	2	1	2	0	0	1	5	2	3	1	1	1	3	2	1	1	3	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:59272720C>A	ENST00000320743.3	-	14	2255	c.1969G>T	c.(1969-1971)Gag>Tag	p.E657*	LRIG3_ENST00000379141.4_Nonsense_Mutation_p.E597*	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	657	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACGTCATCCTCGGGCATCACA	0.552			T	ROS1	NSCLC								9	95					0.000274275	0.000288188	1	0	A	59272720	C	A	59272720	4	1	325	1	0	0	0	0	0	1	0	0	9010	893	31	3	1414	3	LRIG3	12	59272720	Nonsense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	1701345	59272720	74579175	75	57764											
PPFIA2	8499	broad.mit.edu	37	chr12	81762943	81762943	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accctctaaatgtctcatacGttcttcaatatttccatgtc	10	16	3	12	1	4	0	2	0	3	0	7	0	5	0	2	0	1	1	2	0	5	6			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:81762943G>A	ENST00000541570.2	-	0	155				PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R433C|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R359C|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R433C|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R334C|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R415C|PPFIA2_ENST00000541017.1_De_novo_Start_InFrame|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R433C|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R433C|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R415C|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R280C	NM_001220479.1	NP_001207408.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2											NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGTCTCATACGTTCTTCAATA	0.318													6	17					0	0	0	0	A	81762943	G	A	81762943	1	1	325	1	0	0	0	0	0	0	0	0	12381	1145	40	1		1	PPFIA2	12	81762943	Translation_Start_Site	SNP	G	TCGA-CV-7438-01A-21D-2129-08	22490223	81762943	52088952	76	57765											
XPO4	64328	broad.mit.edu	37	chr13	21375044	21375044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaccaaacaatatctttgcCcatctggggacttagtagat	14	11	7	9	0	2	1	0	0	2	1	2	2	2	2	2	2	3	1	2	2	6	4			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr13:21375044C>A	ENST00000400602.2	-	14	1938	c.1903G>T	c.(1903-1905)Ggc>Tgc	p.G635C	XPO4_ENST00000255305.6_Missense_Mutation_p.G635C	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	635					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATATCTTTGCCCATCTGGGGA	0.393													35	142					4.3181e-19	5.00899e-19	1	0	A	21375044	C	A	21375044	3	1	325	1	0	0	0	0	1	0	0	0	17542	623	22	4	1592	4	XPO4	13	21375044	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08		21375044	93794834	77	57766											
RXFP2	122042	broad.mit.edu	37	chr13	32339254	32339254	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacttaaagtctgtgccgAtgatttctaacaatgtgaca	12	13	9	7	1	2	3	0	3	2	0	2	4	2	3	1	0	2	0	1	0	4	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr13:32339254A>C	ENST00000298386.2	+	4	471	c.400A>C	c.(400-402)Atg>Ctg	p.M134L	RXFP2_ENST00000380314.1_Missense_Mutation_p.M134L	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	134						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GTCTGTGCCGATGATTTCTAA	0.348													6	73					0	0	0	0	C	32339254	A	C	32339254	3	2	325	1	0	0	0	0	1	0	0	0	13845	333	12	5	414	5	RXFP2	13	32339254	Missense_Mutation	SNP	A	TCGA-CV-7438-01A-21D-2129-08	10964210	32339254	82830624	78	57767											
MDGA2	161357	broad.mit.edu	37	chr14	47530570	47530570	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcaatgatgtccaagttTgttgttcccggagagacatc	12	12	9	8	1	1	2	1	1	0	1	4	4	3	3	2	1	0	3	2	1	3	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:47530570T>C	ENST00000426342.1	-	7	1259	c.513A>G	c.(511-513)acA>acG	p.T171T	MDGA2_ENST00000439988.2_Silent_p.T400T|MDGA2_ENST00000357362.3_Silent_p.T171T|MDGA2_ENST00000399232.2_Silent_p.T469T	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	400	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGTCCAAGTTTGTTGTTCCCG	0.403													8	182					0	0	0	0	C	47530570	T	C	47530570	2	2	325	1	0	0	0	0	0	0	0	1	9476	1799	63	5		5	MDGA2	14	47530570	Silent	SNP	T	TCGA-CV-7438-01A-21D-2129-08		47530570	59818970	79	57768											
PLEKHH1	57475	broad.mit.edu	37	chr14	68050595	68050595	+	Silent	SNP	G	G	A																															catggggcccccgctgaacaGctgaggtaggtaggctacaa																										TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:68050595G>A	ENST00000329153.5	+	25	3696	c.3564G>A	c.(3562-3564)caG>caA	p.Q1188Q	PLEKHH1_ENST00000417684.2_Silent_p.Q53Q	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1188	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCGCTGAACAGCTGAGGTAGG	0.582											OREG0022749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	29					0	0	0	0	A	68050595	G	A	68050595	2	1	325	1	0	0	0	0	0	0	0	1	12148	962	34	4		4	PLEKHH1	14	68050595	Silent	SNP	G	TCGA-CV-7438-01A-21D-2129-08	20520025	68050595	39298945	80	57769	473	2									
PLEKHH1	57475	broad.mit.edu	37	chr14	68050596	68050596	+	Silent	SNP	C	C	T																															atggggcccccgctgaacagCtgaggtaggtaggctacaag																										TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:68050596C>T	ENST00000329153.5	+	25	3697	c.3565C>T	c.(3565-3567)Ctg>Ttg	p.L1189L	PLEKHH1_ENST00000417684.2_Silent_p.L54L	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1189	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CGCTGAACAGCTGAGGTAGGT	0.582											OREG0022749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	28					0	0	0	0	T	68050596	C	T	68050596	2	4	325	1	0	0	0	0	0	0	0	1	12148	796	28	4		4	PLEKHH1	14	68050596	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	1	68050596	39298944	81	57770	473	2									
ZFP36L1	677	broad.mit.edu	37	chr14	69257020	69257020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggtctcggaagcggctgtCtcgcgagctcagagcggggg	5	6	19	11	6	3	1	1	0	2	1	5	3	3	2	0	5	3	2	0	5	1	0			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:69257020C>G	ENST00000439696.2	-	2	548	c.247G>C	c.(247-249)Gac>Cac	p.D83H	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.D83H	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	83					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AAGCGGCTGTCTCGCGAGCTC	0.682											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	31					0	0	0	0	G	69257020	C	G	69257020	3	3	325	1	0	0	0	0	1	0	0	0	17741	913	32	2	773	2	ZFP36L1	14	69257020	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	1206424	69257020	38092520	82	57771											
ADSSL1	122622	broad.mit.edu	37	chr14	105201381	105201381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaacaacgccggccacacgGtggtggtggatgggaaagag	11	4	17	9	3	0	1	0	0	0	1	0	3	0	3	2	6	2	1	2	6	3	0			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:105201381G>T	ENST00000332972.5	+	2	505	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	ADSSL1_ENST00000330877.2_Missense_Mutation_p.V73L	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	73					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CGGCCACACGGTGGTGGTGGA	0.627													4	21					0.00909568	0.00935371	1	0	T	105201381	G	T	105201381	3	4	325	1	0	0	0	0	1	0	0	0	348	1261	44	4	548	4	ADSSL1	14	105201381	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	35944361	105201381	2148159	83	57772											
DUOX1	53905	broad.mit.edu	37	chr15	45428812	45428812	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccatggtgccccctggCgtctacatgaggtgagggag	7	8	14	12	1	1	2	0	2	1	0	2	3	2	3	4	4	2	0	4	4	1	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr15:45428812C>T	ENST00000321429.4	+	10	1418	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G	DUOX1_ENST00000389037.3_Silent_p.G337G	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	337	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCCCCCTGGCGTCTACATGA	0.592													11	52					0	0	0	0	T	45428812	C	T	45428812	2	4	325	1	0	0	0	0	0	0	0	1	4836	755	27	1		1	DUOX1	15	45428812	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08		45428812	57102580	84	57773											
TRPM7	54822	broad.mit.edu	37	chr15	50867173	50867173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggatatcatgttctgaccagGtacactgtactttgacagct	10	13	9	9	0	2	2	1	2	1	0	2	3	2	3	1	2	3	4	1	2	3	5			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr15:50867173G>A	ENST00000313478.7	-	34	5176	c.4895C>T	c.(4894-4896)aCc>aTc	p.T1632I	TRPM7_ENST00000560955.1_Missense_Mutation_p.T1631I|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1632	Alpha-type protein kinase.				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTCTGACCAGGTACACTGTAC	0.388													33	115					0	0	0	0	A	50867173	G	A	50867173	3	1	325	1	0	0	0	0	1	0	0	0	16686	1261	44	4	726	4	TRPM7	15	50867173	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	5438361	50867173	51664219	85	57774											
CYP1A2	1544	broad.mit.edu	37	chr15	75042710	75042710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttcggacagcacttccctGagagtagcgatgagatgctc	9	9	12	11	2	0	2	0	2	0	2	3	6	1	3	1	1	3	4	1	1	1	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr15:75042710G>A	ENST00000343932.4	+	2	694	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	211					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GCACTTCCCTGAGAGTAGCGA	0.577													26	173					0	0	0	0	A	75042710	G	A	75042710	3	1	325	1	0	0	0	0	1	0	0	0	4182	1291	45	2	633	2	CYP1A2	15	75042710	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	24175537	75042710	27488682	86	57775											
PDXDC1	23042	broad.mit.edu	37	chr16	15110041	15110041	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agattgaaagaactctgtgaGcagtatggcatatggcttca	13	11	11	6	0	2	4	1	2	1	2	2	4	2	4	0	2	2	4	0	2	4	4			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr16:15110041G>C	ENST00000396410.4	+	9	880	c.783G>C	c.(781-783)gaG>gaC	p.E261D	PDXDC1_ENST00000450288.2_Missense_Mutation_p.E233D|PDXDC1_ENST00000447912.2_Missense_Mutation_p.E170D|PDXDC1_ENST00000325823.7_Missense_Mutation_p.E246D|PDXDC1_ENST00000563679.1_Missense_Mutation_p.E279D|PDXDC1_ENST00000569715.1_Missense_Mutation_p.E234D|PDXDC1_ENST00000535621.2_Missense_Mutation_p.E261D|PDXDC1_ENST00000455313.2_Missense_Mutation_p.E238D	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	261					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AACTCTGTGAGCAGTATGGCA	0.502													8	55					0	0	0	0	C	15110041	G	C	15110041	3	2	325	1	0	0	0	0	1	0	0	0	11767	962	34	4	817	4	PDXDC1	16	15110041	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08		15110041	75244712	87	57776											
HPR	3250	broad.mit.edu	37	chr16	72110502	72110502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctaccaccaggtagatattgGgctcatcaaactcaaacaga	15	8	7	11	0	3	2	3	0	0	2	3	2	3	2	2	2	3	2	2	2	5	4			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr16:72110502G>A	ENST00000540303.2	+	5	601	c.569G>A	c.(568-570)gGg>gAg	p.G190E	HPR_ENST00000228226.8_Missense_Mutation_p.G227E|HPR_ENST00000356967.5_Missense_Mutation_p.G190E|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	190	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GTAGATATTGGGCTCATCAAA	0.448													15	75					0	0	0	0	A	72110502	G	A	72110502	3	1	325	1	0	0	0	0	1	0	0	0	7387	1232	43	4	587	4	HPR	16	72110502	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	57000461	72110502	18244251	88	57777											
KCNG4	93107	broad.mit.edu	37	chr16	84270496	84270496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttcatgcacaggccccagCgcgaggagtgcgaggcgggg	7	4	19	11	4	1	0	1	0	0	0	1	3	1	1	2	6	3	2	2	6	0	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr16:84270496C>T	ENST00000568181.1	-	2	716	c.596G>A	c.(595-597)cGc>cAc	p.R199H	KCNG4_ENST00000308251.4_Missense_Mutation_p.R199H			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	199						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R199H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CAGGCCCCAGCGCGAGGAGTG	0.677													15	36					0	0	0	0	T	84270496	C	T	84270496	3	4	325	1	0	0	0	0	1	0	0	0	8083	768	27	1	969	1	KCNG4	16	84270496	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	12159994	84270496	6084257	89	57778											
CAMKK1	84254	broad.mit.edu	37	chr17	3785559	3785559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcatctacctgagcgcGcagcccacgtggatccactg	7	8	10	16	3	1	1	0	1	1	0	3	2	3	2	4	1	4	2	4	1	1	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:3785559G>A	ENST00000381771.2	-	8	938	c.791C>T	c.(790-792)gCg>gTg	p.A264V	CAMKK1_ENST00000381769.2_Intron|CAMKK1_ENST00000158166.5_Missense_Mutation_p.A264V|CAMKK1_ENST00000348335.2_Intron			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	228	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACCTGAGCGCGCAGCCCACGT	0.537													5	72					0	0	0	0	A	3785559	G	A	3785559	3	1	325	1	0	0	0	0	1	0	0	0	2631	1087	38	1	884	1	CAMKK1	17	3785559	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08		3785559	77409651	90	57779											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	24					0	0	0	0	A	7578212	G	A	7578212	4	1	325	1	0	0	0	0	0	1	0	0	16476	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	3792653	7578212	73616998	91	57780											
MYH3	4621	broad.mit.edu	37	chr17	10542363	10542363	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggttgaagggcatacttCttgagcctttcgtccagctg	7	13	12	9	1	1	2	0	2	1	0	3	2	2	2	2	2	3	3	2	2	2	5			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:10542363C>G	ENST00000583535.1	-	25	3333	c.3246G>C	c.(3244-3246)aaG>aaC	p.K1082N	MYH3_ENST00000226209.7_Missense_Mutation_p.K1082N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1082					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K1082N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGGCATACTTCTTGAGCCTTT	0.398													22	71					0	0	0	0	G	10542363	C	G	10542363	3	3	325	1	0	0	0	0	1	0	0	0	10106	912	32	2	2644	2	MYH3	17	10542363	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	2964151	10542363	70652847	92	57781											
KRT14	3861	broad.mit.edu	37	chr17	39740142	39740142	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccatctccacattgacatctCcacccacctggcctctcagg	8	9	5	19	0	3	1	1	1	3	0	6	1	3	1	6	2	0	0	6	2	0	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:39740142C>G	ENST00000167586.6	-	4	883	c.797G>C	c.(796-798)gGa>gCa	p.G266A		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	266	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				ATTGACATCTCCACCCACCTG	0.577													9	108					0	0	0	0	G	39740142	C	G	39740142	3	3	325	1	0	0	0	0	1	0	0	0	8503	855	30	2	641	2	KRT14	17	39740142	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	29197779	39740142	41455068	93	57782											
SPOP	8405	broad.mit.edu	37	chr17	47679366	47679366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctttaagcgctccagggCatactgtaaaacacaagcac	14	7	8	12	1	0	0	0	0	0	0	1	1	1	0	2	1	4	4	2	1	5	4			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:47679366C>A	ENST00000393331.3	-	11	1311	c.841G>T	c.(841-843)Gcc>Tcc	p.A281S	SPOP_ENST00000504102.1_Missense_Mutation_p.A281S|SPOP_ENST00000393328.2_Missense_Mutation_p.A281S|SPOP_ENST00000503676.1_Missense_Mutation_p.A281S|SPOP_ENST00000347630.2_Missense_Mutation_p.A281S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	281	BTB.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CGCTCCAGGGCATACTGTAAA	0.493										Prostate(2;0.17)			42	45					6.48837e-15	7.40798e-15	1	0	A	47679366	C	A	47679366	3	1	325	1	0	0	0	0	1	0	0	0	15174	710	25	4	291	4	SPOP	17	47679366	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	7939224	47679366	33515844	94	57783											
SGCA	6442	broad.mit.edu	37	chr17	48245850	48245850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggggactctgggagccCggagagcttcagctgctcaa	7	8	16	10	1	3	1	2	0	1	1	3	4	3	3	1	5	4	3	1	5	1	2			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:48245850C>T	ENST00000262018.3	+	5	537	c.501C>T	c.(499-501)ccC>ccT	p.P167P	SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000451235.2_Silent_p.P65P|SGCA_ENST00000344627.6_Silent_p.P167P|SGCA_ENST00000543315.1_Silent_p.P167P	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	167					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						TCTGGGAGCCCGGAGAGCTTC	0.642													5	1					0	0	0	0	T	48245850	C	T	48245850	2	4	325	1	0	0	0	0	0	0	0	1	14286	639	23	1		1	SGCA	17	48245850	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	566484	48245850	32949360	95	57784											
GNAL	2774	broad.mit.edu	37	chr18	11872355	11872355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggaaatcaaaaattgaaGactatttcccagaatatgca	18	9	7	7	0	1	3	1	1	0	2	2	4	2	4	1	1	1	1	1	1	7	4			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr18:11872355G>C	ENST00000334049.6	+	10	1728	c.1120G>C	c.(1120-1122)Gac>Cac	p.D374H	GNAL_ENST00000535121.1_Missense_Mutation_p.D297H|GNAL_ENST00000423027.3_Missense_Mutation_p.D297H|GNAL_ENST00000602628.1_Missense_Mutation_p.D90H|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000269162.5_Missense_Mutation_p.D297H	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	297					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AAAAATTGAAGACTATTTCCC	0.333													24	71					0	0	0	0	C	11872355	G	C	11872355	3	2	325	1	0	0	0	0	1	0	0	0	6558	942	33	2	1307	2	GNAL	18	11872355	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08		11872355	66204893	96	57785											
TRAPPC5	126003	broad.mit.edu	37	chr19	7747352	7747352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggatgcgctggtggcGcgcgaaaagggtgcccggcg	5	6	20	10	6	0	0	0	0	0	0	0	2	0	1	1	5	3	2	1	5	2	0			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:7747352G>A	ENST00000597959.1	+	3	389	c.389G>A	c.(388-390)cGc>cAc	p.R130H	TRAPPC5_ENST00000596148.1_Silent_p.A71A|TRAPPC5_ENST00000317378.5_Silent_p.A71A|TRAPPC5_ENST00000595985.1_Intron|TRAPPC5_ENST00000426877.2_Silent_p.A71A																							CGCTGGTGGCGCGCGAAAAGG	0.711													10	27					0	0	0	0	A	7747352	G	A	7747352	3	1	325	1	0	0	0	0	1	0	0	0	16557	1074	38	1	215	1	TRAPPC5	19	7747352	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08		7747352	51381631	97	57786											
LPPR2	64748	broad.mit.edu	37	chr19	11470246	11470246	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgatcctgcttgcttaccgCctggagttcacggacacctt	6	12	10	13	2	1	1	1	1	0	0	2	3	2	3	4	2	3	3	4	2	1	4			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:11470246C>G	ENST00000251473.5	+	4	481	c.105C>G	c.(103-105)cgC>cgG	p.R35R	DKFZP761J1410_ENST00000586431.1_3'UTR|DKFZP761J1410_ENST00000591608.1_Intron	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TTGCTTACCGCCTGGAGTTCA	0.622													9	49					0	0	0	0	G	11470246	C	G	11470246	2	3	325	1	0	0	0	0	0	0	0	1	8989	726	26	4		4	LPPR2	19	11470246	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	3722894	11470246	47658737	98	57787											
SIN3B	23309	broad.mit.edu	37	chr19	16974605	16974605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtgaggacgagcgcttcGaggtgtgtgtgctgctgtgg	4	11	19	7	3	0	1	0	1	0	0	1	4	0	2	0	3	3	4	0	3	0	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:16974605G>A	ENST00000379803.1	+	11	1491	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	SIN3B_ENST00000248054.5_Missense_Mutation_p.E461K|SIN3B_ENST00000595541.1_Missense_Mutation_p.E51K	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	493	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGAGCGCTTCGAGGTGTGTGT	0.612													12	41					0	0	0	0	A	16974605	G	A	16974605	3	1	325	1	0	0	0	0	1	0	0	0	14414	1059	37	1	1519	1	SIN3B	19	16974605	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	5504359	16974605	42154378	99	57788											
ZNF208	7757	broad.mit.edu	37	chr19	22157388	22157388	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttatgaaagacatttgcatAtttgccacgttgaaatactt	13	16	6	6	1	0	3	0	2	0	1	0	3	0	3	1	0	3	2	1	0	5	8			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:22157388A>G	ENST00000397126.4	-	4	596	c.448T>C	c.(448-450)Tat>Cat	p.Y150H	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTTGCATATTTGCCACGT	0.328													21	81					0	0	0	0	G	22157388	A	G	22157388	3	3	325	1	0	0	0	0	1	0	0	0	17861	449	16	5	3398	5	ZNF208	19	22157388	Missense_Mutation	SNP	A	TCGA-CV-7438-01A-21D-2129-08	5182783	22157388	36971595	100	57789											
MAG	4099	broad.mit.edu	37	chr19	35791165	35791165	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgacctggatgcgggaCgggacagtcctccgggaggc	6	6	17	12	3	0	1	0	1	0	0	2	5	2	5	3	5	2	1	3	5	0	0			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:35791165C>T	ENST00000361922.4	+	6	978	c.828C>T	c.(826-828)gaC>gaT	p.D276D	MAG_ENST00000392213.3_Silent_p.D276D|MAG_ENST00000537831.2_Silent_p.D251D	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	276	Ig-like C2-type 2.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGATGCGGGACGGGACAGTCC	0.687													4	14					0	0	0	0	T	35791165	C	T	35791165	2	4	325	1	0	0	0	0	0	0	0	1	9227	535	19	1		1	MAG	19	35791165	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	13633777	35791165	23337818	101	57790											
HIPK4	147746	broad.mit.edu	37	chr19	40887043	40887043	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaatctggtccaacgacttGagcatatacttgcggcgctc	9	11	9	12	3	2	1	1	1	1	0	4	2	3	1	1	2	4	2	1	2	4	4			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:40887043G>C	ENST00000291823.2	-	3	1139	c.855C>G	c.(853-855)ctC>ctG	p.L285L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	285	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCAACGACTTGAGCATATACT	0.632													12	34					0	0	0	0	C	40887043	G	C	40887043	2	2	325	1	0	0	0	0	0	0	0	1	7169	1277	45	2		2	HIPK4	19	40887043	Silent	SNP	G	TCGA-CV-7438-01A-21D-2129-08	5095878	40887043	18241940	102	57791											
B3GNT8	374907	broad.mit.edu	37	chr19	41932174	41932174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagctggactgccccaCgtctctctcacggcctgtcg	4	9	11	17	3	2	0	1	0	2	0	5	2	2	2	4	3	2	1	4	3	0	0			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:41932174C>T	ENST00000321702.2	-	3	963	c.510G>A	c.(508-510)acG>acA	p.T170T	B3GNT8_ENST00000601379.1_5'UTR	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	170					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						GACTGCCCCACGTCTCTCTCA	0.627													22	76					0	0	0	0	T	41932174	C	T	41932174	2	4	325	1	0	0	0	0	0	0	0	1	1267	523	19	1		1	B3GNT8	19	41932174	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	1045131	41932174	17196809	103	57792											
JAG1	182	broad.mit.edu	37	chr20	10630209	10630209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catccagccgggaagacagtCgcagtagtagctggcaatga	12	6	13	10	2	0	2	0	1	0	1	2	3	1	3	2	2	2	5	2	2	4	2			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:10630209C>T	ENST00000254958.5	-	10	1824	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	JAG1_ENST00000423891.2_Missense_Mutation_p.D278N	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	437	EGF-like 6; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGAAGACAGTCGCAGTAGTAG	0.458									Alagille Syndrome				9	39					0	0	0	0	T	10630209	C	T	10630209	3	4	325	1	0	0	0	0	1	0	0	0	7987	884	31	1	2415	1	JAG1	20	10630209	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08		10630209	52395311	104	57793											
PCSK2	5126	broad.mit.edu	37	chr20	17434530	17434530	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacggcaggactgccctgtaCgacgagagctgctcttccac	8	7	12	14	3	1	1	0	0	1	1	2	5	2	2	2	2	4	4	2	2	1	2			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:17434530C>T	ENST00000262545.2	+	9	1344	c.1029C>T	c.(1027-1029)taC>taT	p.Y343Y	PCSK2_ENST00000536609.1_Silent_p.Y308Y|PCSK2_ENST00000377899.1_Silent_p.Y324Y	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	343	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.Y343Y(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGCCCTGTACGACGAGAGCT	0.597													24	50					0	0	0	0	T	17434530	C	T	17434530	2	4	325	1	0	0	0	0	0	0	0	1	11672	547	19	1		1	PCSK2	20	17434530	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	6804321	17434530	45590990	105	57794											
CD93	22918	broad.mit.edu	37	chr20	23065975	23065975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaatcctggtcggcagccGcagaggaaggagccatcccc	9	4	14	14	3	0	1	0	0	0	1	3	4	2	4	5	5	2	2	5	5	2	0			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:23065975G>A	ENST00000246006.4	-	1	1002	c.855C>T	c.(853-855)tgC>tgT	p.C285C		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	285	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTCGGCAGCCGCAGAGGAAGG	0.647													18	125					0	0	0	0	A	23065975	G	A	23065975	2	1	325	1	0	0	0	0	0	0	0	1	3076	1079	38	1		1	CD93	20	23065975	Silent	SNP	G	TCGA-CV-7438-01A-21D-2129-08	5631445	23065975	39959545	106	57795											
LPIN3	64900	broad.mit.edu	37	chr20	39978495	39978495	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccagtcccctaagagcCgagtcccacatgcagtgggc	9	5	12	15	1	0	1	0	0	0	1	2	3	2	1	5	1	3	1	5	1	1	1	rs150401004	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:39978495C>T	ENST00000373257.3	+	6	811	c.720C>T	c.(718-720)gcC>gcT	p.A240A		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	240					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCCTAAGAGCCGAGTCCCACA	0.637													12	58					0	0	0	0	T	39978495	C	T	39978495	2	4	325	1	0	0	0	0	0	0	0	1	8984	639	23	1		1	LPIN3	20	39978495	Silent	SNP	C	TCGA-CV-7438-01A-21D-2129-08	16912520	39978495	23047025	107	57796											
WFDC8	90199	broad.mit.edu	37	chr20	44181876	44181876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaaggtggacactccttaCgttcagtgaaagggaagagt	13	9	13	6	1	1	3	1	2	0	1	2	5	2	5	1	3	1	1	1	3	4	2			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:44181876C>T	ENST00000357199.4	-	5	563	c.485G>A	c.(484-486)cGt>cAt	p.R162H	WFDC8_ENST00000289953.2_Missense_Mutation_p.R162H	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	162	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				ACACTCCTTACGTTCAGTGAA	0.488													11	58					0	0	0	0	T	44181876	C	T	44181876	3	4	325	1	0	0	0	0	1	0	0	0	17452	536	19	1	248	1	WFDC8	20	44181876	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	4203381	44181876	18843644	108	57797											
RRP1	8568	broad.mit.edu	37	chr21	45213246	45213246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaccatgaatcgcgagtgGacgggcattgacaggctgcg	10	6	15	10	4	0	3	0	2	0	1	1	5	0	4	1	3	1	2	1	3	1	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr21:45213246G>T	ENST00000497547.1	+	4	438	c.321G>T	c.(319-321)tgG>tgT	p.W107C		NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	107					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		ATCGCGAGTGGACGGGCATTG	0.612													9	122					4.68919e-08	5.151e-08	1	0	T	45213246	G	T	45213246	3	4	325	1	0	0	0	0	1	0	0	0	13770	1183	41	2	335	2	RRP1	21	45213246	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08		45213246	2916649	109	57798											
CABIN1	23523	broad.mit.edu	37	chr22	24480679	24480679	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaccattgtgcctcgcacaGagaggccagcccttagcctg	8	7	10	16	1	0	1	0	0	0	1	1	2	0	1	6	1	3	1	6	1	1	2	rs35231087		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr22:24480679G>C	ENST00000398319.2	+	21	3443	c.3058G>C	c.(3058-3060)Gag>Cag	p.E1020Q	CABIN1_ENST00000405822.2_Missense_Mutation_p.E970Q|CABIN1_ENST00000263119.5_Missense_Mutation_p.E1020Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1020					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCTCGCACAGAGAGGCCAGC	0.557													21	66					0	0	0	0	C	24480679	G	C	24480679	3	2	325	1	0	0	0	0	1	0	0	0	2553	943	33	2	3136	2	CABIN1	22	24480679	Missense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08		24480679	26823887	110	57799											
DMD	1756	broad.mit.edu	37	chrX	32380945	32380945	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaatggctgcaaatcgaTggttgagctctgagatttgg	10	12	14	5	1	1	3	0	3	1	1	2	5	1	3	0	3	2	4	0	3	2	2			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:32380945T>C	ENST00000357033.4	-	37	5491	c.5285A>G	c.(5284-5286)cAt>cGt	p.H1762R	DMD_ENST00000378677.2_Missense_Mutation_p.H1758R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1762	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCAAATCGATGGTTGAGCTC	0.483													30	103					0	0	0	0	C	32380945	T	C	32380945	3	2	325	1	0	0	0	0	1	0	0	0	4617	1464	51	5	6092	5	DMD	23	32380945	Missense_Mutation	SNP	T	TCGA-CV-7438-01A-21D-2129-08		32380945	122889615	111	57800											
ZXDA	7789	broad.mit.edu	37	chrX	57935933	57935933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtggtgaaggtccagcCgcagccacccagggggcatt	9	5	16	11	1	0	2	0	1	0	1	1	2	1	2	4	5	2	2	4	5	1	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:57935933C>T	ENST00000358697.4	-	1	1134	c.922G>A	c.(922-924)Ggc>Agc	p.G308S		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	308	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AAGGTCCAGCCGCAGCCACCC	0.627													7	24					0	0	0	0	T	57935933	C	T	57935933	3	4	325	1	0	0	0	0	1	0	0	0	18341	652	23	1	1481	1	ZXDA	23	57935933	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	25554988	57935933	97334627	112	57801											
COL4A6	1288	broad.mit.edu	37	chrX	107417817	107417817	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagctccaggtaggccTggtggtccaggtcgaccagc	7	6	15	13	1	0	0	0	0	0	0	3	2	2	1	5	6	2	2	5	6	1	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:107417817T>C	ENST00000334504.7	-	31	3224	c.2991A>G	c.(2989-2991)ccA>ccG	p.P997P	COL4A6_ENST00000545689.1_Silent_p.P997P|COL4A6_ENST00000394872.2_Silent_p.P998P|COL4A6_ENST00000538570.1_Silent_p.P997P|COL4A6_ENST00000372216.4_Silent_p.P998P	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	998	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAGGTAGGCCTGGTGGTCCAG	0.537									Alport syndrome with Diffuse Leiomyomatosis				17	45					0	0	0	0	C	107417817	T	C	107417817	2	2	325	1	0	0	0	0	0	0	0	1	3725	1567	55	5		5	COL4A6	23	107417817	Silent	SNP	T	TCGA-CV-7438-01A-21D-2129-08	49481884	107417817	47852743	113	57802											
ZNF449	203523	broad.mit.edu	37	chrX	134483215	134483215	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactatggtgctactggaGaatgtcagaactttctggac	11	12	11	7	0	2	3	1	1	1	2	2	5	2	4	0	3	4	1	0	3	5	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:134483215G>T	ENST00000339249.4	+	3	675	c.535G>T	c.(535-537)Gaa>Taa	p.E179*		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	179					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTACTGGAGAATGTCAGAA	0.537													10	99					7.48243e-07	8.09666e-07	1	0	T	134483215	G	T	134483215	4	4	325	1	0	0	0	0	0	1	0	0	18015	943	33	2	541	2	ZNF449	23	134483215	Nonsense_Mutation	SNP	G	TCGA-CV-7438-01A-21D-2129-08	27065398	134483215	20787345	114	57803											
SLC9A6	10479	broad.mit.edu	37	chrX	135106627	135106627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcaccactgcaatgctgtCatgcttgcatatcaggtaag	10	11	10	10	0	2	0	2	0	0	0	2	0	2	0	1	2	4	6	1	2	3	3			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:135106627C>T	ENST00000370695.4	+	12	1636	c.1601C>T	c.(1600-1602)tCa>tTa	p.S534L	SLC9A6_ENST00000370698.3_Missense_Mutation_p.S502L|SLC9A6_ENST00000370701.1_Missense_Mutation_p.S482L	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	502					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GCAATGCTGTCATGCTTGCAT	0.378													19	119					0	0	0	0	T	135106627	C	T	135106627	3	4	325	1	0	0	0	0	1	0	0	0	14806	838	29	2	1647	2	SLC9A6	23	135106627	Missense_Mutation	SNP	C	TCGA-CV-7438-01A-21D-2129-08	623412	135106627	20163933	115	57804											
TREX2	11219	broad.mit.edu	37	chrX	152710829	152710829	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atctcgggctccacactgggGagcccagtggcttccaggtc	6	8	13	14	1	1	0	0	0	1	0	5	1	3	1	3	5	1	2	3	5	0	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:152710829G>A	ENST00000330912.2	-	13	1610	c.60C>T	c.(58-60)ctC>ctT	p.L20L	TREX2_ENST00000370232.1_Silent_p.L63L|TREX2_ENST00000370231.2_Silent_p.L20L|TREX2_ENST00000338525.2_Silent_p.L20L|TREX2_ENST00000414588.1_Silent_p.L62L|TREX2_ENST00000393862.2_Silent_p.L20L|TREX2_ENST00000334497.2_Silent_p.L63L|TREX2_ENST00000402951.1_Silent_p.L63L			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	63					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACACTGGGGAGCCCAGTGG	0.622								Editing and processing nucleases					5	6					0	0	0	0	A	152710829	G	A	152710829	2	1	325	1	0	0	0	0	0	0	0	1	16572	1161	41	2		2	TREX2	23	152710829	Silent	SNP	G	TCGA-CV-7438-01A-21D-2129-08	17604202	152710829	2559731	116	57805											
FAM3A	60343	broad.mit.edu	37	chrX	153740200	153740200	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagtcaccgagctctcTggacctgtggatacagagtg	8	9	12	12	1	2	1	1	0	1	1	3	4	2	3	3	2	3	2	3	2	1	1			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:153740200T>A	ENST00000434658.2	-	3	601	c.132A>T	c.(130-132)ccA>ccT	p.P44P	FAM3A_ENST00000369641.3_Silent_p.P44P|FAM3A_ENST00000359889.5_Silent_p.P44P|FAM3A_ENST00000369643.1_Silent_p.P44P|FAM3A_ENST00000492763.1_5'UTR|FAM3A_ENST00000447601.2_Silent_p.P44P|FAM3A_ENST00000393572.1_Silent_p.P6P	NM_001171134.1	NP_001164605.1	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	44						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGAGCTCTCTGGACCTGTGG	0.632											OREG0003614	type=REGULATORY REGION|Gene=FAM3A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	36					0	0	0	0	A	153740200	T	A	153740200	2	1	325	1	0	0	0	0	0	0	0	1	5603	1567	55	5		5	FAM3A	23	153740200	Silent	SNP	T	TCGA-CV-7438-01A-21D-2129-08	1029371	153740200	1530360	117	57806											
MMEL1	79258	broad.mit.edu	37	chr1	2540804	2540804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcaggagcggtacagcGtcctggccttctccacagcc	7	8	11	15	2	2	0	1	0	1	0	4	1	3	1	4	3	5	2	4	3	1	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:2540804G>A	ENST00000288709.6	-	6	722	c.482C>T	c.(481-483)aCg>aTg	p.T161M	MMEL1_ENST00000378412.3_Missense_Mutation_p.T170M|MMEL1_ENST00000502556.1_Intron	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	170					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCGGTACAGCGTCCTGGCCTT	0.687													6	5					0	0	0	0	A	2540804	G	A	2540804	3	1	326	1	0	0	0	0	1	0	0	0	9715	1145	40	1	1906	1	MMEL1	1	2540804	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08		2540804	246709817	1	57807											
CAMTA1	23261	broad.mit.edu	37	chr1	7724486	7724486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccagcaaacccctccccGtcgagcagaacacccacagc	12	2	7	20	3	0	1	0	0	0	1	2	2	1	1	6	0	5	2	6	0	2	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:7724486G>T	ENST00000303635.7	+	9	2086	c.1879G>T	c.(1879-1881)Gtc>Ttc	p.V627F	CAMTA1_ENST00000439411.2_Missense_Mutation_p.V627F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACCCCTCCCCGTCGAGCAGAA	0.652			T	WWTR1	epitheliod hemangioendothelioma								79	81					2.27196e-54	3.19239e-54	1	0	T	7724486	G	T	7724486	3	4	326	1	0	0	0	0	1	0	0	0	2638	1145	40	3	1913	3	CAMTA1	1	7724486	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	5183682	7724486	241526135	2	57808											
NPPB	4879	broad.mit.edu	37	chr1	11918291	11918291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttgcagcccaggccactgGaggagctgatccggtccatc	7	8	12	14	1	0	1	0	1	0	0	3	3	2	3	4	4	3	2	4	4	0	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:11918291G>A	ENST00000376468.3	-	2	465	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	123					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CAGGCCACTGGAGGAGCTGAT	0.602													23	32					0	0	0	0	A	11918291	G	A	11918291	3	1	326	1	0	0	0	0	1	0	0	0	10663	1174	41	2	44	2	NPPB	1	11918291	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	4193805	11918291	237332330	3	57809											
EPHA2	1969	broad.mit.edu	37	chr1	16477390	16477390	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaccccgaaggcttacataCccctttgccatacgggtgtg	8	9	9	15	2	0	0	0	0	0	0	0	1	0	0	6	2	4	1	6	2	4	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:16477390C>G	ENST00000358432.5	-	2	308		c.e2+1		EPHA2_ENST00000461614.1_Intron	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2						activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGCTTACATACCCCTTTGCCA	0.617													37	74					0	0	0	0	G	16477390	C	G	16477390	5	3	326	1	0	0	0	0	0	0	1	0	5205	521	18	4	2840	4	EPHA2	1	16477390	Splice_Site	SNP	C	TCGA-CV-7440-01A-11D-2129-08	4559099	16477390	232773231	4	57810											
SLC30A2	7780	broad.mit.edu	37	chr1	26370885	26370885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgctggcaaagtcagtgaGcaggtgtgctgcgtcagtca	9	9	14	9	1	3	1	3	1	0	0	3	1	3	1	0	2	4	4	0	2	1	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:26370885G>T	ENST00000374276.3	-	3	558	c.322C>A	c.(322-324)Ctc>Atc	p.L108I	SLC30A2_ENST00000374278.3_Intron|SLC30A2_ENST00000498060.1_5'UTR	NM_001004434.1	NP_001004434.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	90					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTCAGTGAGCAGGTGTGCT	0.597													5	17					5.9392e-07	6.58842e-07	1	0	T	26370885	G	T	26370885	3	4	326	1	0	0	0	0	1	0	0	0	14643	971	34	4	820	4	SLC30A2	1	26370885	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	9893495	26370885	222879736	5	57811											
ARID1A	8289	broad.mit.edu	37	chr1	27100151	27100151	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccttccaacccagactCggggatgtattctcctagcc	8	10	8	15	1	1	1	0	0	1	1	4	2	2	2	5	2	3	1	5	2	3	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:27100151C>A	ENST00000324856.7	+	16	4318	c.3947C>A	c.(3946-3948)tCg>tAg	p.S1316*	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S933*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S1316*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1316					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACCCAGACTCGGGGATGTAT	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								41	38					9.39024e-22	1.27373e-21	1	0	A	27100151	C	A	27100151	4	1	326	1	0	0	0	0	0	1	0	0	915	893	31	3	4009	3	ARID1A	1	27100151	Nonsense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	729266	27100151	222150470	6	57812											
RLF	6018	broad.mit.edu	37	chr1	40705888	40705888	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgactctacaattcatgaGaacctgactgcaatcccacc	13	9	6	13	0	2	3	1	3	1	1	3	4	3	3	3	0	3	1	3	0	4	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:40705888G>C	ENST00000372771.4	+	8	5541	c.5514G>C	c.(5512-5514)gaG>gaC	p.E1838D		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1838					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAATTCATGAGAACCTGACTG	0.398													15	85					0	0	0	0	C	40705888	G	C	40705888	3	2	326	1	0	0	0	0	1	0	0	0	13474	933	33	2	5544	2	RLF	1	40705888	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	13605737	40705888	208544733	7	57813											
RIMS3	9783	broad.mit.edu	37	chr1	41101587	41101587	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcacggggctgcacgcaCgtgccgtcggagctgttgct	6	7	15	13	5	0	0	0	0	0	0	1	1	0	1	1	3	5	7	1	3	0	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:41101587C>A	ENST00000372684.3	-	4	829		c.e4+1		RIMS3_ENST00000372683.1_Splice_Site	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3						neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GCTGCACGCACGTGCCGTCGG	0.667													14	55					1.15088e-07	1.30306e-07	1	0	A	41101587	C	A	41101587	5	1	326	1	0	0	0	0	0	0	1	0	13454	550	19	3	586	3	RIMS3	1	41101587	Splice_Site	SNP	C	TCGA-CV-7440-01A-11D-2129-08	395699	41101587	208149034	8	57814											
EIF2B3	8891	broad.mit.edu	37	chr1	45444037	45444037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgcagttcccatgtcagCgtcatcaggaatacacacaa	13	9	7	12	1	4	0	3	0	1	0	5	1	5	1	1	1	3	2	1	1	3	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:45444037C>T	ENST00000360403.2	-	3	370	c.244G>A	c.(244-246)Gct>Act	p.A82T	EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Missense_Mutation_p.A82T	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	82					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCCATGTCAGCGTCATCAGGA	0.363													62	106					0	0	0	0	T	45444037	C	T	45444037	3	4	326	1	0	0	0	0	1	0	0	0	5038	768	27	1	1191	1	EIF2B3	1	45444037	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	4342450	45444037	203806584	9	57815											
WDR78	79819	broad.mit.edu	37	chr1	67292591	67292591	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagaccaggcaacgtcgtAaacaacagaagtagctggat	15	6	12	8	2	0	2	0	0	0	2	1	4	0	3	1	3	4	4	1	3	6	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:67292591A>C	ENST00000371026.3	-	15	2306	c.2251T>G	c.(2251-2253)Tac>Gac	p.Y751D	WDR78_ENST00000431318.1_Missense_Mutation_p.Y464D	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	751										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GCAACGTCGTAAACAACAGAA	0.398													21	94					0	0	0	0	C	67292591	A	C	67292591	3	2	326	1	0	0	0	0	1	0	0	0	17424	362	13	5	307	5	WDR78	1	67292591	Missense_Mutation	SNP	A	TCGA-CV-7440-01A-11D-2129-08	21848554	67292591	181958030	10	57816											
PIGK	10026	broad.mit.edu	37	chr1	77627356	77627356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatcgttcatacatggatgCtccttggcaagtatcaataa	14	12	7	8	1	2	0	2	0	0	0	4	1	3	1	1	2	2	4	1	2	6	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:77627356C>A	ENST00000370812.3	-	7	648	c.625G>T	c.(625-627)Gca>Tca	p.A209S	PIGK_ENST00000370813.5_Missense_Mutation_p.A133S|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000359130.1_Missense_Mutation_p.A209S|PIGK_ENST00000445065.1_Missense_Mutation_p.A115S	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	209					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TACATGGATGCTCCTTGGCAA	0.358													35	59					1.36161e-19	1.82884e-19	1	0	A	77627356	C	A	77627356	3	1	326	1	0	0	0	0	1	0	0	0	11962	797	28	4	582	4	PIGK	1	77627356	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	10334765	77627356	171623265	11	57817											
COL11A1	1301	broad.mit.edu	37	chr1	103405901	103405901	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgtctccgtcttccccAggggagccggcaggaccagc	6	7	12	16	2	2	0	0	0	2	0	4	2	3	2	6	4	2	1	6	4	0	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:103405901A>T	ENST00000358392.2	-	43	3719	c.3402T>A	c.(3400-3402)ccT>ccA	p.P1134P	COL11A1_ENST00000353414.4_Silent_p.P1083P|COL11A1_ENST00000512756.1_Silent_p.P1006P|COL11A1_ENST00000370096.3_Silent_p.P1122P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1122	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CGTCTTCCCCAGGGGAGCCGG	0.463													25	39					0	0	0	0	T	103405901	A	T	103405901	2	4	326	1	0	0	0	0	0	0	0	1	3697	175	7	5		5	COL11A1	1	103405901	Silent	SNP	A	TCGA-CV-7440-01A-11D-2129-08	25778545	103405901	145844720	12	57818											
AMPD1	270	broad.mit.edu	37	chr1	115216688	115216688	+	Frame_Shift_Del	DEL	A	A	-																															ttgggctaagaaaaacaagtActgtagcacgggactctgaa																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:115216688delA	ENST00000369538.3	-	13	1950	c.1903delT	c.(1903-1905)acfs	p.Y635fs	AMPD1_ENST00000520113.2_Frame_Shift_Del_p.Y639fs|AMPD1_ENST00000353928.6_Frame_Shift_Del_p.Y606fs	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	606					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	AAAAACAAGTACTGTAGCACG	0.343													10	75	---	---	---	---					-	115216688	A	-	115216688	7	5	326	1	0	1	0	1	0	0	0	0	585	391	14	0	439	0	AMPD1	1	115216688	Frame_Shift_Del	DEL	A	TCGA-CV-7440-01A-11D-2129-08	11810787	115216688	134033933	13	57819											
GJA8	2703	broad.mit.edu	37	chr1	147380527	147380527	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggaggggaccctgctgAggacctacatctgccacatc	8	7	13	13	0	1	1	0	1	1	0	2	4	1	4	3	5	3	2	3	5	1	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:147380527A>T	ENST00000240986.4	+	2	498	c.445A>T	c.(445-447)Agg>Tgg	p.R149W	GJA8_ENST00000369235.1_Missense_Mutation_p.R149W	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	149					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GACCCTGCTGAGGACCTACAT	0.607													20	115					0	0	0	0	T	147380527	A	T	147380527	3	4	326	1	0	0	0	0	1	0	0	0	6456	295	11	5	447	5	GJA8	1	147380527	Missense_Mutation	SNP	A	TCGA-CV-7440-01A-11D-2129-08	32163839	147380527	101870094	14	57820											
KIRREL	55243	broad.mit.edu	37	chr1	158059256	158059256	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggacctaggggcccaggcctCctggctccccacccgaggct	5	5	13	18	1	0	0	0	0	0	0	2	2	2	1	7	6	0	2	7	6	1	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:158059256C>G	ENST00000368172.1	+	5	463	c.451C>G	c.(451-453)Cct>Gct	p.P151A	KIRREL_ENST00000359209.6_Intron|KIRREL_ENST00000360089.4_Intron|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000368173.3_Missense_Mutation_p.P353A			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	348	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCCCAGGCCTCCTGGCTCCCC	0.617													8	35					0	0	0	0	G	158059256	C	G	158059256	3	3	326	1	0	0	0	0	1	0	0	0	8376	870	30	2		2	KIRREL	1	158059256	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	10678729	158059256	91191365	15	57821											
FMO4	2329	broad.mit.edu	37	chr1	171310604	171310604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgactacattgcctacatgGatgatatcgctgcctgcata	10	13	8	10	1	0	2	0	2	0	0	1	3	0	3	2	1	5	2	2	1	4	6			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:171310604G>T	ENST00000367749.3	+	10	1633	c.1303G>T	c.(1303-1305)Gat>Tat	p.D435Y		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	435					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGCCTACATGGATGATATCGC	0.473													18	34					1.45105e-14	1.87542e-14	1	0	T	171310604	G	T	171310604	3	4	326	1	0	0	0	0	1	0	0	0	6002	1174	41	2	1333	2	FMO4	1	171310604	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	13251348	171310604	77940017	16	57822											
QSOX1	5768	broad.mit.edu	37	chr1	180159622	180159622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccaggggagtgagccgCatttccggggctttccctgc	4	9	15	13	2	0	1	0	1	0	0	2	2	2	2	4	4	3	3	4	4	0	2	rs143670617	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:180159622C>T	ENST00000367602.3	+	10	1269	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	QSOX1_ENST00000367600.5_Missense_Mutation_p.H399Y			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	399	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAGTGAGCCGCATTTCCGGGG	0.557													50	121					0	0	0	0	T	180159622	C	T	180159622	3	4	326	1	0	0	0	0	1	0	0	0	12965	710	25	4	1233	4	QSOX1	1	180159622	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	8849018	180159622	69090999	17	57823											
RGL1	23179	broad.mit.edu	37	chr1	183876207	183876207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccacctcgcccaagcctCggaagagcatggtgaagaga	12	4	12	13	2	0	3	0	1	0	2	2	5	0	4	4	2	2	2	4	2	3	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:183876207C>T	ENST00000304685.3	+	15	2100	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	RGL1_ENST00000360851.3_Missense_Mutation_p.R512W|RGL1_ENST00000536277.1_Missense_Mutation_p.R510W|RGL1_ENST00000367531.1_Missense_Mutation_p.R547W|RGL1_ENST00000539189.1_Missense_Mutation_p.R483W	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	512	Ser-rich.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GCCCAAGCCTCGGAAGAGCAT	0.557													7	8					0	0	0	0	T	183876207	C	T	183876207	3	4	326	1	0	0	0	0	1	0	0	0	13358	875	31	1	1693	1	RGL1	1	183876207	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	3716585	183876207	65374414	18	57824											
CFH	3075	broad.mit.edu	37	chr1	196643062	196643062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaaatgtgtttgaatatgGtgtaaaagctgtgtatacat	14	14	11	2	0	0	1	0	1	0	0	0	2	0	2	0	2	2	4	0	2	7	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:196643062G>T	ENST00000367429.4	+	3	560	c.320G>T	c.(319-321)gGt>gTt	p.G107V	CFH_ENST00000359637.2_Missense_Mutation_p.G107V|CFH_ENST00000439155.2_Missense_Mutation_p.G107V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	107	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTGAATATGGTGTAAAAGCT	0.333													20	127					1.22574e-08	1.4231e-08	1	0	T	196643062	G	T	196643062	3	4	326	1	0	0	0	0	1	0	0	0	3312	1261	44	4	330	4	CFH	1	196643062	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	12766855	196643062	52607559	19	57825											
ASPM	259266	broad.mit.edu	37	chr1	197091420	197091420	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggagctctttgtatagctCtgaagtattttctattatgc	9	18	8	6	0	3	1	0	1	3	0	3	2	3	2	0	1	3	4	0	1	7	9			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:197091420C>G	ENST00000367409.4	-	15	3866	c.3610G>C	c.(3610-3612)Gag>Cag	p.E1204Q	ASPM_ENST00000367408.1_Missense_Mutation_p.E454Q|ASPM_ENST00000294732.7_Missense_Mutation_p.E1204Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1204	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTATAGCTCTGAAGTATTT	0.363													18	45					0	0	0	0	G	197091420	C	G	197091420	3	3	326	1	0	0	0	0	1	0	0	0	1060	922	32	2	6879	2	ASPM	1	197091420	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	448358	197091420	52159201	20	57826											
PIK3C2B	5287	broad.mit.edu	37	chr1	204425081	204425081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccaggtcatgcttgcGgctcccgggcactgccgtct	4	9	13	15	3	2	0	1	0	1	0	3	1	3	1	3	4	3	3	3	4	0	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:204425081G>A	ENST00000367187.3	-	12	2402	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	PIK3C2B_ENST00000496872.1_5'UTR|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R616C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	616					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCATGCTTGCGGCTCCCGGGC	0.612													39	64					0	0	0	0	A	204425081	G	A	204425081	3	1	326	1	0	0	0	0	1	0	0	0	11982	1116	39	1	3150	1	PIK3C2B	1	204425081	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	7333661	204425081	44825540	21	57827											
IL19	29949	broad.mit.edu	37	chr1	207010323	207010323	+	Frame_Shift_Del	DEL	A	A	-																															caagctaaggacaccttcccAaatgtcactatcctgtccac																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:207010323delA	ENST00000270218.6	+	4	1104	c.165delA	c.(163-165)ccfs	p.P55fs	IL19_ENST00000340758.2_Frame_Shift_Del_p.P93fs	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	55					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			ACACCTTCCCAAATGTCACTA	0.418													24	176	---	---	---	---					-	207010323	A	-	207010323	7	5	326	1	0	1	0	1	0	0	0	0	7702	117	5	0	289	0	IL19	1	207010323	Frame_Shift_Del	DEL	A	TCGA-CV-7440-01A-11D-2129-08	2585242	207010323	42240298	22	57828											
KCTD3	51133	broad.mit.edu	37	chr1	215752341	215752341	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttttcttcttctctttatAggtattcctagtcgtaaaat	8	21	5	7	1	3	0	0	0	3	0	6	0	4	0	1	1	0	3	1	1	6	11			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:215752341A>G	ENST00000259154.4	+	7	691		c.e7-1			NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3							voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TTCTCTTTATAGGTATTCCTA	0.333													4	28					0	0	0	0	G	215752341	A	G	215752341	5	3	326	1	0	0	0	0	0	0	1	0	8163	434	15	5	422	5	KCTD3	1	215752341	Splice_Site	SNP	A	TCGA-CV-7440-01A-11D-2129-08	8742018	215752341	33498280	23	57829											
EGLN1	54583	broad.mit.edu	37	chr1	231556851	231556851	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcgcagccgggctcctTgccctcgatccaggtgatct	4	11	12	14	3	1	1	0	1	1	0	5	2	3	1	4	3	2	3	4	3	0	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:231556851T>G	ENST00000366641.3	-	1	3939	c.784A>C	c.(784-786)Aag>Cag	p.K262Q		NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	262					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	CCGGGCTCCTTGCCCTCGATC	0.592													58	66					0	0	0	0	G	231556851	T	G	231556851	3	3	326	1	0	0	0	0	1	0	0	0	5004	1821	63	5	516	5	EGLN1	1	231556851	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	15804510	231556851	17693770	24	57830											
SLC35F3	148641	broad.mit.edu	37	chr1	234367481	234367481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagcagtctgtgaagcagcGatacaggtaggcgcgtcctg	10	7	15	9	3	1	1	0	1	1	0	2	3	2	1	1	2	4	3	1	2	4	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:234367481G>A	ENST00000366618.3	+	3	747	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	SLC35F3_ENST00000366617.3_Missense_Mutation_p.R132Q	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	132					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTGAAGCAGCGATACAGGTAG	0.597													23	138					0	0	0	0	A	234367481	G	A	234367481	3	1	326	1	0	0	0	0	1	0	0	0	14678	1058	37	1	612	1	SLC35F3	1	234367481	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	2810630	234367481	14883140	25	57831											
TRIM58	25893	broad.mit.edu	37	chr1	248028155	248028155	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagagcaagagccggcTggtccagcagagcaaggccc	10	2	17	12	2	0	3	0	0	0	3	1	4	1	3	3	4	4	4	3	4	2	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:248028155T>A	ENST00000366481.3	+	3	713	c.665T>A	c.(664-666)cTg>cAg	p.L222Q		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	222						intracellular	zinc ion binding	p.L222P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGAGCCGGCTGGTCCAGCAG	0.692													7	22					0	0	0	0	A	248028155	T	A	248028155	3	1	326	1	0	0	0	0	1	0	0	0	16626	1580	55	5	675	5	TRIM58	1	248028155	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	13660674	248028155	1222466	26	57832											
OR2W3	343171	broad.mit.edu	37	chr1	248059405	248059405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccccgctgtgggcaccacGaggtggaccacttcctgcgt	6	8	12	15	3	0	0	0	0	0	0	1	2	1	1	5	3	2	2	5	3	1	2	rs139271211		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:248059405G>A	ENST00000537741.1	+	3	774	c.517G>A	c.(517-519)Gag>Aag	p.E173K	OR2W3_ENST00000360358.3_Missense_Mutation_p.E173K			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGGCACCACGAGGTGGACCA	0.657													41	76					0	0	0	0	A	248059405	G	A	248059405	3	1	326	1	0	0	0	0	1	0	0	0	11104	1059	37	1	519	1	OR2W3	1	248059405	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	31250	248059405	1191216	27	57833											
KIDINS220	57498	broad.mit.edu	37	chr2	8919048	8919048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtatctgagcatggaacGtctccatttgttgctgaagt	9	14	11	7	1	2	2	0	2	2	0	3	3	2	3	1	1	3	5	1	1	4	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:8919048G>T	ENST00000256707.3	-	19	2773	c.2592C>A	c.(2590-2592)gaC>gaA	p.D864E	KIDINS220_ENST00000418530.1_Missense_Mutation_p.D822E|KIDINS220_ENST00000319688.5_Missense_Mutation_p.D865E|KIDINS220_ENST00000427284.1_Missense_Mutation_p.D864E|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D864E	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	864	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCATGGAACGTCTCCATTTG	0.398													17	114					1.33834e-09	1.59437e-09	1	0	T	8919048	G	T	8919048	3	4	326	1	0	0	0	0	1	0	0	0	8322	1136	40	3	2771	3	KIDINS220	2	8919048	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08		8919048	234280325	28	57834											
GALNT14	79623	broad.mit.edu	37	chr2	31133837	31133837	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggttgacgacgatttccttgCcgttctcggtgccatcaccg	5	12	11	13	5	2	1	1	1	1	0	4	3	3	1	4	2	2	2	4	2	0	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:31133837C>G	ENST00000349752.5	-	15	2228	c.1589G>C	c.(1588-1590)gGc>gCc	p.G530A	GALNT14_ENST00000356174.3_Missense_Mutation_p.G497A|GALNT14_ENST00000406653.1_Missense_Mutation_p.G510A|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Missense_Mutation_p.G495A|GALNT14_ENST00000324589.5_Missense_Mutation_p.G535A	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	530	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GATTTCCTTGCCGTTCTCGGT	0.542													16	71					0	0	0	0	G	31133837	C	G	31133837	3	3	326	1	0	0	0	0	1	0	0	0	6261	739	26	4	73	4	GALNT14	2	31133837	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	22214789	31133837	212065536	29	57835											
SMEK2	57223	broad.mit.edu	37	chr2	55831140	55831140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattttttcccagatctcatCacagccagctttctcctgaa	10	14	4	13	0	3	2	2	1	2	1	6	2	4	2	3	0	2	1	3	0	2	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:55831140C>T	ENST00000272313.5	-	3	598	c.271G>A	c.(271-273)Gat>Aat	p.D91N	SMEK2_ENST00000345102.5_Missense_Mutation_p.D91N|SMEK2_ENST00000407823.3_Missense_Mutation_p.D91N	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	91	WH1.					microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGATCTCATCACAGCCAGCT	0.299													16	65					0	0	0	0	T	55831140	C	T	55831140	3	4	326	1	0	0	0	0	1	0	0	0	14882	826	29	2	2338	2	SMEK2	2	55831140	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	24697303	55831140	187368233	30	57836											
RNF181	51255	broad.mit.edu	37	chr2	85824002	85824006	+	Frame_Shift_Del	DEL	TGCCT	TGCCT	-																															ggaggagactgccattgagaTgccttgccatcaccttttcc																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:85824002_85824006delTGCCT	ENST00000441634.1	+	3	314_318	c.275_279delTGCCT	c.(274-279)afs	p.MP92fs	RNF181_ENST00000306368.4_Frame_Shift_Del_p.MP92fs			Q9P0P0	RN181_HUMAN	ring finger protein 181	92							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						GCCATTGAGATGCCTTGCCATCACC	0.532													15	194	---	---	---	---					-	85824006	TGCCT	-	85824002	7	5	326	1	0	1	0	1	0	0	0	0	13550	1464	51	0	285	0	RNF181	2	85824002	Frame_Shift_Del	DEL	TGCCT	TCGA-CV-7440-01A-11D-2129-08	29992862	85824002	157375371	31	57837											
FER1L5	90342	broad.mit.edu	37	chr2	97370099	97370099	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttcatctattcagctccGgtgagtggcagccatggggg	8	10	13	10	1	3	1	2	1	1	0	4	1	4	1	2	4	3	2	2	4	2	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:97370099G>A	ENST00000457909.1	+	0	5452							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						ATTCAGCTCCGGTGAGTGGCA	0.483													58	120					0	0	0	0	A	97370099	G	A	97370099	1	1	326	0	1	0	0	0	0	0	0	0	5859	1130	39	1		1	FER1L5	2	97370099	RNA	SNP	G	TCGA-CV-7440-01A-11D-2129-08	11546097	97370099	145829274	32	57838											
LRP1B	53353	broad.mit.edu	37	chr2	141027836	141027836	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacaggtacatttgtctcggGgtccagctggcatgtgccac	7	10	12	12	1	1	0	0	0	1	0	3	0	2	0	2	4	3	3	2	4	1	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:141027836G>C	ENST00000389484.3	-	86	14193	c.13222C>G	c.(13222-13224)Ccc>Gcc	p.P4408A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4408	EGF-like 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGTCTCGGGGTCCAGCTGG	0.403										TSP Lung(27;0.18)			19	38					0	0	0	0	C	141027836	G	C	141027836	3	2	326	1	0	0	0	0	1	0	0	0	9019	1232	43	4	601	4	LRP1B	2	141027836	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	43657737	141027836	102171537	33	57839											
LRP1B	53353	broad.mit.edu	37	chr2	141128763	141128763	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacctcatctgaaccatcAgcacaatcatattctccatt	12	14	2	13	0	5	1	3	1	2	0	6	1	5	1	3	0	3	1	3	0	4	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:141128763A>G	ENST00000389484.3	-	70	11831	c.10860T>C	c.(10858-10860)gcT>gcC	p.A3620A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3620	LDL-receptor class A 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGAACCATCAGCACAATCAT	0.303										TSP Lung(27;0.18)			3	21					0	0	0	0	G	141128763	A	G	141128763	2	3	326	1	0	0	0	0	0	0	0	1	9019	175	7	5		5	LRP1B	2	141128763	Silent	SNP	A	TCGA-CV-7440-01A-11D-2129-08	100927	141128763	102070610	34	57840											
LRP1B	53353	broad.mit.edu	37	chr2	141571366	141571366	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttgttttccacatagtctAtcgatagacctgtaattaaa	12	15	6	8	1	1	1	0	0	1	1	3	2	2	1	2	0	0	3	2	0	6	8			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:141571366A>G	ENST00000389484.3	-	32	6190	c.5219T>C	c.(5218-5220)aTa>aCa	p.I1740T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1740					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACATAGTCTATCGATAGACC	0.343										TSP Lung(27;0.18)			7	58					0	0	0	0	G	141571366	A	G	141571366	3	3	326	1	0	0	0	0	1	0	0	0	9019	449	16	5	8820	5	LRP1B	2	141571366	Missense_Mutation	SNP	A	TCGA-CV-7440-01A-11D-2129-08	442603	141571366	101628007	35	57841											
MBD5	55777	broad.mit.edu	37	chr2	149226943	149226943	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttcatgatgccacctgtAggaccccaggccacttctag	10	10	8	13	0	2	1	1	1	1	0	2	2	2	2	5	2	1	1	5	2	3	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:149226943A>T	ENST00000407073.1	+	9	2428	c.1431A>T	c.(1429-1431)gtA>gtT	p.V477V	MBD5_ENST00000404807.1_Silent_p.V477V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	477						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGCCACCTGTAGGACCCCAGG	0.502													7	31					0	0	0	0	T	149226943	A	T	149226943	2	4	326	1	0	0	0	0	0	0	0	1	9416	407	15	5		5	MBD5	2	149226943	Silent	SNP	A	TCGA-CV-7440-01A-11D-2129-08	7655577	149226943	93972430	36	57842											
IFIH1	64135	broad.mit.edu	37	chr2	163134806	163134806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataagtttgaatccttgtCattatttctagaagtttctc	11	18	5	7	0	3	2	1	1	2	1	5	2	4	2	1	0	0	2	1	0	6	7			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:163134806C>A	ENST00000263642.2	-	9	2069	c.1674G>T	c.(1672-1674)atG>atT	p.M558I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	558					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GAATCCTTGTCATTATTTCTA	0.289													5	38					1.23904e-05	1.32616e-05	1	0	A	163134806	C	A	163134806	3	1	326	1	0	0	0	0	1	0	0	0	7573	826	29	2	1435	2	IFIH1	2	163134806	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	13907863	163134806	80064567	37	57843											
COL5A2	1290	broad.mit.edu	37	chr2	189962019	189962019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacaggtcttccttttggcCctcgctctcctcttggtccc	2	16	7	16	1	3	0	0	0	3	0	7	0	5	0	4	3	1	1	4	3	1	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:189962019C>T	ENST00000374866.3	-	6	714	c.440G>A	c.(439-441)gGg>gAg	p.G147E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	147					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCTTTTGGCCCTCGCTCTCC	0.443													8	55					0	0	0	0	T	189962019	C	T	189962019	3	4	326	1	0	0	0	0	1	0	0	0	3727	623	22	4	4255	4	COL5A2	2	189962019	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	26827213	189962019	53237354	38	57844											
DNAH7	56171	broad.mit.edu	37	chr2	196834805	196834805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaattcctccacaaacCgttcacaccgtaactaataa	14	10	2	15	2	2	0	1	0	1	0	5	0	4	0	5	0	2	2	5	0	5	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:196834805C>T	ENST00000312428.6	-	17	2172	c.2072G>A	c.(2071-2073)cGg>cAg	p.R691Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	691	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCCACAAACCGTTCACACCG	0.323													19	54					0	0	0	0	T	196834805	C	T	196834805	3	4	326	1	0	0	0	0	1	0	0	0	4642	652	23	1	10198	1	DNAH7	2	196834805	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	6872786	196834805	46364568	39	57845											
PLCL1	5334	broad.mit.edu	37	chr2	198950188	198950188	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tatccaagtgccatgaggatCgattccagtaacttgaatcc	12	11	8	10	1	0	2	0	2	0	0	4	4	3	3	4	1	2	1	4	1	4	4	rs151231252		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:198950188C>G	ENST00000428675.1	+	2	2345	c.1947C>G	c.(1945-1947)atC>atG	p.I649M	PLCL1_ENST00000437704.2_Missense_Mutation_p.I551M	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	649	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.I551I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCATGAGGATCGATTCCAGTA	0.423													5	45					0	0	0	0	G	198950188	C	G	198950188	3	3	326	1	0	0	0	0	1	0	0	0	12111	874	31	3	1953	3	PLCL1	2	198950188	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	2115383	198950188	44249185	40	57846											
ABCA12	26154	broad.mit.edu	37	chr2	215880315	215880315	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaggttgcagaattcttTcattgcatcttctagtttgg	9	16	9	7	0	4	2	1	0	3	2	4	2	4	2	0	2	2	4	0	2	2	7			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:215880315T>A	ENST00000272895.7	-	15	2074	c.1855A>T	c.(1855-1857)Aaa>Taa	p.K619*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.K301*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	619					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAGAATTCTTTCATTGCATCT	0.403													8	25					0	0	0	0	A	215880315	T	A	215880315	4	1	326	1	0	0	0	0	0	1	0	0	30	1792	62	5	6088	5	ABCA12	2	215880315	Nonsense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	16930127	215880315	27319058	41	57847											
ALPP	250	broad.mit.edu	37	chr2	233243704	233243716	+	Frame_Shift_Del	DEL	TGGAACCGCGAGG	TGGAACCGCGAGG	-																															aggaggagaacccggacttcTggaaccgcgaggcagccgag																								rs113323105	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:233243704_233243716delTGGAACCGCGAGG	ENST00000392027.2	+	2	369_381	c.100_112delTGGAACCGCGAGG	c.(100-114)cafs	p.WNREA34fs		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	34						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCCGGACTTCTGGAACCGCGAGGCAGCCGAGGC	0.634													11	96	---	---	---	---					-	233243716	TGGAACCGCGAGG	-	233243704	7	5	326	1	0	1	0	1	0	0	0	0	548	1580	55	0	106	0	ALPP	2	233243704	Frame_Shift_Del	DEL	TGGAACCGCGAGG	TCGA-CV-7440-01A-11D-2129-08	17363389	233243704	9955669	42	57848											
MYEOV2	150678	broad.mit.edu	37	chr2	241066107	241066107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatattgtgctgtcttcgCtgacctctcgcctgcttctt	3	17	8	13	2	3	2	0	2	3	0	5	2	3	2	2	0	2	3	2	0	1	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:241066107C>A	ENST00000307266.3	-	5	631	c.632G>T	c.(631-633)aGc>aTc	p.S211I		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCTGTCTTCGCTGACCTCTCG	0.478													41	57					2.66277e-13	3.37777e-13	1	0	A	241066107	C	A	241066107	3	1	326	1	0	0	0	0	1	0	0	0	10096	797	28	4	130	4	MYEOV2	2	241066107	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	7822403	241066107	2133266	43	57849											
CNTN6	27255	broad.mit.edu	37	chr3	1444056	1444056	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattttggaaacaaacaatAcatcagctgagcttctggtt	14	13	7	7	0	2	1	1	1	1	0	2	2	2	2	0	2	5	3	0	2	5	6			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:1444056A>G	ENST00000446702.2	+	22	3499	c.2872A>G	c.(2872-2874)Aca>Gca	p.T958A	CNTN6_ENST00000539053.1_Missense_Mutation_p.T886A|CNTN6_ENST00000350110.2_Missense_Mutation_p.T958A			Q9UQ52	CNTN6_HUMAN	contactin 6	958	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACAAACAATACATCAGCTGA	0.368													19	21					0	0	0	0	G	1444056	A	G	1444056	3	3	326	1	0	0	0	0	1	0	0	0	3675	391	14	5	2954	5	CNTN6	3	1444056	Missense_Mutation	SNP	A	TCGA-CV-7440-01A-11D-2129-08		1444056	196578374	44	57850											
ATP2B2	491	broad.mit.edu	37	chr3	10401651	10401651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacagtgctcatggacttgcGcacggagttgaaggtgtaca	10	9	14	8	2	1	1	1	1	0	0	1	4	1	3	0	3	3	4	0	3	2	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:10401651G>A	ENST00000397077.1	-	12	2256	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R561C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R606C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R592C|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R606C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	606					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ATGGACTTGCGCACGGAGTTG	0.577													53	42					0	0	0	0	A	10401651	G	A	10401651	3	1	326	1	0	0	0	0	1	0	0	0	1144	1087	38	1	1959	1	ATP2B2	3	10401651	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	8957595	10401651	187620779	45	57851											
IMPG2	50939	broad.mit.edu	37	chr3	100963144	100963144	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactaagaggctcttcctcTggaaagtgtgtggatctgtc	8	12	11	10	0	3	1	0	0	3	1	5	3	4	3	2	3	0	1	2	3	2	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:100963144T>C	ENST00000193391.7	-	13	2218	c.2031A>G	c.(2029-2031)ccA>ccG	p.P677P		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	677					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCTCTTCCTCTGGAAAGTGTG	0.443													3	43					0	0	0	0	C	100963144	T	C	100963144	2	2	326	1	0	0	0	0	0	0	0	1	7782	1567	55	5		5	IMPG2	3	100963144	Silent	SNP	T	TCGA-CV-7440-01A-11D-2129-08	90561493	100963144	97059286	46	57852											
MYH15	22989	broad.mit.edu	37	chr3	108100408	108100408	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctattcttcttgaaccTgaaaaacagaatgtcagtgt	13	13	8	7	0	3	3	1	2	2	1	3	4	3	3	1	0	3	1	1	0	5	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:108100408T>G	ENST00000273353.3	-	42	5883		c.e42-2			NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15							myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTTGAACCTGAAAAACAGA	0.453													58	98					0	0	0	0	G	108100408	T	G	108100408	5	3	326	1	0	0	0	0	0	0	1	0	10104	1594	55	5	19	5	MYH15	3	108100408	Splice_Site	SNP	T	TCGA-CV-7440-01A-11D-2129-08	7137264	108100408	89922022	47	57853											
GRAMD1C	54762	broad.mit.edu	37	chr3	113634611	113634611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtatttttcatatcagtgCtgacagaatgtttgaattgc	10	16	8	7	1	2	3	2	2	0	1	2	3	2	3	1	0	2	3	1	0	4	6			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:113634611C>T	ENST00000358160.4	+	10	1508	c.1016C>T	c.(1015-1017)gCt>gTt	p.A339V	GRAMD1C_ENST00000452134.2_Missense_Mutation_p.A68V|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.A172V|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.A134V	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	339						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CATATCAGTGCTGACAGAATG	0.338													11	40					0	0	0	0	T	113634611	C	T	113634611	3	4	326	1	0	0	0	0	1	0	0	0	6799	797	28	4	1054	4	GRAMD1C	3	113634611	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	5534203	113634611	84387819	48	57854											
DRD3	1814	broad.mit.edu	37	chr3	113866346	113866346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcatgagggccacgcgccGacaggagctctgtcccgtgc	7	6	14	14	4	2	1	1	1	1	0	3	4	3	2	3	2	2	1	3	2	0	0	rs141573183		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:113866346G>A	ENST00000383673.2	-	4	872	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	DRD3_ENST00000467632.1_Missense_Mutation_p.R148W|DRD3_ENST00000295881.7_Missense_Mutation_p.R148W|DRD3_ENST00000460779.1_Missense_Mutation_p.R148W	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	148					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GCCACGCGCCGACAGGAGCTC	0.562													4	69					0	0	0	0	A	113866346	G	A	113866346	3	1	326	1	0	0	0	0	1	0	0	0	4794	1057	37	1	776	1	DRD3	3	113866346	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	231735	113866346	84156084	49	57855											
PCCB	5096	broad.mit.edu	37	chr3	135969356	135969356	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaagcgccggaccgcgCtgctgggagggggccaacgc	10	2	16	13	5	0	0	0	0	0	0	0	2	0	2	3	4	4	2	3	4	4	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:135969356C>T	ENST00000471595.1	+	1	157	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	PCCB_ENST00000251654.4_Silent_p.L47L|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000466072.1_Silent_p.L47L|PCCB_ENST00000468777.1_Silent_p.L47L|PCCB_ENST00000483687.1_Silent_p.L47L|PCCB_ENST00000462637.1_Silent_p.L47L|PCCB_ENST00000490504.1_Silent_p.L47L|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000469217.1_Silent_p.L47L|PCCB_ENST00000478469.1_Silent_p.L47L			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	47	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CCGGACCGCGCTGCTGGGAGG	0.667											OREG0015823	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	16					0	0	0	0	T	135969356	C	T	135969356	2	4	326	1	0	0	0	0	0	0	0	1	11576	796	28	4		4	PCCB	3	135969356	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08	22103010	135969356	62053074	50	57856											
TRIM42	287015	broad.mit.edu	37	chr3	140409849	140409849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaagacgtggactcttttGagatggaattctatgaagtc	12	12	11	6	1	2	4	0	2	2	3	3	7	2	6	0	2	0	0	0	2	4	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:140409849G>A	ENST00000286349.3	+	4	2091	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	634	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGACTCTTTTGAGATGGAATT	0.418													19	78					0	0	0	0	A	140409849	G	A	140409849	3	1	326	1	0	0	0	0	1	0	0	0	16612	1291	45	2	1914	2	TRIM42	3	140409849	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	4440493	140409849	57612581	51	57857											
SLC7A14	57709	broad.mit.edu	37	chr3	170185021	170185021	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctcctggctctcgcccTctgtggcgtaggagaaaccc	6	9	11	15	2	2	1	0	0	2	1	5	2	4	1	4	3	1	2	4	3	2	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:170185021T>C	ENST00000231706.4	-	8	2453	c.2138A>G	c.(2137-2139)gAg>gGg	p.E713G	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	713						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCTCTCGCCCTCTGTGGCGTA	0.572													24	48					0	0	0	0	C	170185021	T	C	170185021	3	2	326	1	0	0	0	0	1	0	0	0	14784	1551	54	5	181	5	SLC7A14	3	170185021	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	29775172	170185021	27837409	52	57858											
CC2D2A	57545	broad.mit.edu	37	chr4	15556795	15556795	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagtccaagctcgacccaAatgaccccaacaatgcccct	13	5	6	17	1	0	2	0	1	0	1	2	3	1	2	6	0	3	1	6	0	4	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:15556795A>G	ENST00000424120.1	+	20	2841	c.2587A>G	c.(2587-2589)Aat>Gat	p.N863D	CC2D2A_ENST00000413206.1_Missense_Mutation_p.N863D|CC2D2A_ENST00000503292.1_Missense_Mutation_p.N863D|CC2D2A_ENST00000389652.5_Missense_Mutation_p.N814D			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	863					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GCTCGACCCAAATGACCCCAA	0.463													10	27					0	0	0	0	G	15556795	A	G	15556795	3	3	326	1	0	0	0	0	1	0	0	0	2753	14	1	5	2864	5	CC2D2A	4	15556795	Missense_Mutation	SNP	A	TCGA-CV-7440-01A-11D-2129-08		15556795	175597481	53	57859											
LPHN3	23284	broad.mit.edu	37	chr4	62758534	62758534	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcgaggtacttgatgaCatgaccacacaccttccatc	10	10	8	13	1	0	3	0	3	0	0	3	4	1	3	3	1	1	2	3	1	1	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:62758534C>G	ENST00000512091.1	+	9	2184	c.1437C>G	c.(1435-1437)gaC>gaG	p.D479E	LPHN3_ENST00000506720.1_Missense_Mutation_p.D547E|LPHN3_ENST00000514157.1_Missense_Mutation_p.D479E|LPHN3_ENST00000507625.1_Missense_Mutation_p.D547E|LPHN3_ENST00000504896.1_Missense_Mutation_p.D479E|LPHN3_ENST00000506746.1_Missense_Mutation_p.D547E|LPHN3_ENST00000509896.1_Missense_Mutation_p.D547E|LPHN3_ENST00000511324.1_Missense_Mutation_p.D547E|LPHN3_ENST00000545650.1_Missense_Mutation_p.D479E|LPHN3_ENST00000508693.1_Missense_Mutation_p.D547E|LPHN3_ENST00000514996.1_Missense_Mutation_p.D479E|LPHN3_ENST00000507164.1_Missense_Mutation_p.D547E|LPHN3_ENST00000514591.1_Missense_Mutation_p.D479E|LPHN3_ENST00000508946.1_Missense_Mutation_p.D479E|LPHN3_ENST00000506700.1_Missense_Mutation_p.D479E			Q9HAR2	LPHN3_HUMAN	latrophilin 3	479					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACTTGATGACATGACCACAC	0.527													9	42					0	0	0	0	G	62758534	C	G	62758534	3	3	326	1	0	0	0	0	1	0	0	0	8981	477	17	4	1463	4	LPHN3	4	62758534	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	47201739	62758534	128395742	54	57860											
SEC31A	22872	broad.mit.edu	37	chr4	83748592	83748592	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgaaaaagatggtggcatgCctgtttgaccaagaggttgc	11	11	13	6	0	0	4	0	2	0	2	0	4	0	4	2	3	2	3	2	3	3	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:83748592C>G	ENST00000432794.1	-	25	3423	c.3260G>C	c.(3259-3261)gGc>gCc	p.G1087A	SEC31A_ENST00000311785.7_Missense_Mutation_p.G960A|SEC31A_ENST00000348405.4_Missense_Mutation_p.G1035A|SEC31A_ENST00000395310.2_Missense_Mutation_p.G1074A|SEC31A_ENST00000500777.2_Missense_Mutation_p.G921A|SEC31A_ENST00000264405.5_Missense_Mutation_p.G823A|SEC31A_ENST00000509142.1_Missense_Mutation_p.G960A|SEC31A_ENST00000448323.1_Missense_Mutation_p.G1074A|SEC31A_ENST00000513858.1_Missense_Mutation_p.G921A|SEC31A_ENST00000505472.1_Missense_Mutation_p.G1105A|SEC31A_ENST00000508502.1_Missense_Mutation_p.G1059A|SEC31A_ENST00000505984.1_Missense_Mutation_p.G1020A|SEC31A_ENST00000355196.2_Missense_Mutation_p.G1074A|SEC31A_ENST00000443462.2_Missense_Mutation_p.G1054A|SEC31A_ENST00000326950.5_Missense_Mutation_p.G1035A			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1074	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TGGTGGCATGCCTGTTTGACC	0.502													30	147					0	0	0	0	G	83748592	C	G	83748592	3	3	326	1	0	0	0	0	1	0	0	0	14085	739	26	4	457	4	SEC31A	4	83748592	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	20990058	83748592	107405684	55	57861											
MMRN1	22915	broad.mit.edu	37	chr4	90856493	90856493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttacatgaaaatataaaGaagcagagtttgatgatgct	17	12	8	4	0	0	5	0	3	0	2	0	5	0	5	0	0	3	3	0	0	7	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:90856493G>T	ENST00000394980.1	+	7	1981	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N	MMRN1_ENST00000508372.1_Missense_Mutation_p.K296N|MMRN1_ENST00000264790.2_Missense_Mutation_p.K554N|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	554					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAAATATAAAGAAGCAGAGTT	0.383													10	59					5.50884e-06	5.9193e-06	1	0	T	90856493	G	T	90856493	3	4	326	1	0	0	0	0	1	0	0	0	9740	933	33	2	1684	2	MMRN1	4	90856493	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	7107901	90856493	100297783	56	57862											
SGMS2	166929	broad.mit.edu	37	chr4	108831579	108831579	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcttttatttttttgagaAaaatgtacaaggctcaattc	13	17	5	6	0	2	1	1	1	1	1	3	2	2	1	0	1	1	2	0	1	6	7			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:108831579A>T	ENST00000394684.4	+	7	1525	c.968A>T	c.(967-969)aAa>aTa	p.K323I	RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.K323I|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000394686.3_Missense_Mutation_p.K323I	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	323					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	TTTTTTGAGAAAAATGTACAA	0.398													29	30					0	0	0	0	T	108831579	A	T	108831579	3	4	326	1	0	0	0	0	1	0	0	0	14302	14	1	5	986	5	SGMS2	4	108831579	Missense_Mutation	SNP	A	TCGA-CV-7440-01A-11D-2129-08	17975086	108831579	82322697	57	57863											
NDST4	64579	broad.mit.edu	37	chr4	115998155	115998155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagctaagagaacaatcaatGttcgaaaacttctccgaagt	16	10	7	8	2	2	1	1	0	1	1	4	4	2	1	1	0	3	2	1	0	8	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:115998155G>T	ENST00000264363.2	-	2	716	c.38C>A	c.(37-39)aCa>aAa	p.T13K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	13						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AACAATCAATGTTCGAAAACT	0.348													4	20					0.00909568	0.00923043	1	0	T	115998155	G	T	115998155	3	4	326	1	0	0	0	0	1	0	0	0	10328	1377	48	4	2632	4	NDST4	4	115998155	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	7166576	115998155	75156121	58	57864											
PCDH10	57575	broad.mit.edu	37	chr4	134073285	134073285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgaggtgcgcgaccatGggcagccgcccctttcctcc	5	8	12	16	4	0	1	0	1	0	0	3	3	2	1	6	2	2	1	6	2	0	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:134073285G>T	ENST00000264360.4	+	1	2816	c.1990G>T	c.(1990-1992)Ggg>Tgg	p.G664W		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	664	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGCGACCATGGGCAGCCGCC	0.731													5	35					0.000602214	0.000622667	1	0	T	134073285	G	T	134073285	3	4	326	1	0	0	0	0	1	0	0	0	11578	1348	47	4	1992	4	PCDH10	4	134073285	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	18075130	134073285	57080991	59	57865											
MAB21L2	10586	broad.mit.edu	37	chr4	151504953	151504953	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcagtgctgaagactctgCgggaccgccacctggagcta	8	8	12	13	2	2	2	1	1	2	1	3	4	2	4	3	2	3	2	3	2	2	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:151504953C>A	ENST00000317605.4	+	1	1877	c.772C>A	c.(772-774)Cgg>Agg	p.R258R	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	258					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GAAGACTCTGCGGGACCGCCA	0.627													31	23					2.4375e-19	3.25792e-19	1	0	A	151504953	C	A	151504953	2	1	326	1	0	0	0	0	0	0	0	1	9207	759	27	3		3	MAB21L2	4	151504953	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08	17431668	151504953	39649323	60	57866											
GLRB	2743	broad.mit.edu	37	chr4	158060002	158060002	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgatttatctggcagtcaGgagatcctgtgcaattagaa	12	12	10	7	1	2	2	1	0	1	2	3	4	3	2	1	2	2	2	1	2	5	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:158060002G>T	ENST00000264428.4	+	7	922	c.652G>T	c.(652-654)Gga>Tga	p.G218*	GLRB_ENST00000541722.1_Nonsense_Mutation_p.G218*|GLRB_ENST00000509282.1_Nonsense_Mutation_p.G218*|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	218					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CTGGCAGTCAGGAGATCCTGT	0.284													12	70					2.61681e-11	3.24438e-11	1	0	T	158060002	G	T	158060002	4	4	326	1	0	0	0	0	0	1	0	0	6509	1001	35	4	674	4	GLRB	4	158060002	Nonsense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	6555049	158060002	33094274	61	57867											
KLHL2	11275	broad.mit.edu	37	chr4	166232680	166232680	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcatgtagctcccatgaaTacaaggaggagcagtgttgg	11	11	12	7	0	1	1	1	1	0	0	2	3	2	3	1	3	3	4	1	3	4	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:166232680T>C	ENST00000226725.6	+	11	1561	c.1302T>C	c.(1300-1302)aaT>aaC	p.N434N	KLHL2_ENST00000538127.1_Silent_p.N346N|KLHL2_ENST00000421009.2_Silent_p.N337N|KLHL2_ENST00000506761.1_Silent_p.N268N|KLHL2_ENST00000514860.1_Silent_p.N438N|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	434					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CTCCCATGAATACAAGGAGGA	0.418													29	155					0	0	0	0	C	166232680	T	C	166232680	2	2	326	1	0	0	0	0	0	0	0	1	8426	1403	49	5		5	KLHL2	4	166232680	Silent	SNP	T	TCGA-CV-7440-01A-11D-2129-08	8172678	166232680	24921596	62	57868											
SEMA5A	9037	broad.mit.edu	37	chr5	9136622	9136622	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggcactcaccggacaCgcagagatgctctgttccca	9	7	12	13	2	2	1	1	0	1	1	3	3	3	2	2	3	1	4	2	3	0	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:9136622C>A	ENST00000382496.5	-	13	2258	c.1593G>T	c.(1591-1593)gcG>gcT	p.A531A		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	531					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCACCGGACACGCAGAGATGC	0.587													4	27					0.00024832	0.000258706	1	0	A	9136622	C	A	9136622	2	1	326	1	0	0	0	0	0	0	0	1	14124	523	19	3		3	SEMA5A	5	9136622	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08		9136622	171778638	63	57869											
SEMA5A	9037	broad.mit.edu	37	chr5	9190523	9190523	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcatcagaatgaacttctGagcatcctgcagatttctct	11	13	7	10	0	3	4	1	2	2	2	5	4	4	4	1	0	4	3	1	0	2	2	rs147170997		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:9190523G>C	ENST00000382496.5	-	11	1794	c.1129C>G	c.(1129-1131)Cag>Gag	p.Q377E		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	377	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATGAACTTCTGAGCATCCTGC	0.577													23	33					0	0	0	0	C	9190523	G	C	9190523	3	2	326	1	0	0	0	0	1	0	0	0	14124	1299	45	2	2147	2	SEMA5A	5	9190523	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	53901	9190523	171724737	64	57870											
CDH9	1007	broad.mit.edu	37	chr5	26988405	26988405	+	Frame_Shift_Del	DEL	C	C	-																															actgtatggaacatataggtCcagatgaataatggtatata																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:26988405delC	ENST00000231021.4	-	2	208	c.36delG	c.(34-36)tgfs	p.W12fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	12					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACATATAGGTCCAGATGAATA	0.348													7	84	---	---	---	---					-	26988405	C	-	26988405	7	5	326	1	0	1	0	1	0	0	0	0	3146	856	30	0	2377	0	CDH9	5	26988405	Frame_Shift_Del	DEL	C	TCGA-CV-7440-01A-11D-2129-08	17797882	26988405	153926855	65	57871											
HTR1A	3350	broad.mit.edu	37	chr5	63256581	63256581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgttgcgctcatttttcctCtcgaaagaggcgggggcaca	7	10	13	11	4	2	1	1	0	1	1	4	2	3	1	1	3	1	3	1	3	1	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:63256581C>T	ENST00000323865.3	-	1	1199	c.966G>A	c.(964-966)gaG>gaA	p.E322E	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	322					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CATTTTTCCTCTCGAAAGAGG	0.617													7	55					0	0	0	0	T	63256581	C	T	63256581	2	4	326	1	0	0	0	0	0	0	0	1	7489	912	32	2		2	HTR1A	5	63256581	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08	36268176	63256581	117658679	66	57872											
IQGAP2	10788	broad.mit.edu	37	chr5	75954373	75954373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttccaggaggaactagagGttgcacgattaagggaagaa	15	8	13	5	1	0	2	0	0	0	2	1	6	1	5	1	4	2	2	1	4	5	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:75954373G>T	ENST00000274364.6	+	21	2707	c.2410G>T	c.(2410-2412)Gtt>Ttt	p.V804F	IQGAP2_ENST00000379730.3_Missense_Mutation_p.V306F|IQGAP2_ENST00000502745.1_Missense_Mutation_p.V300F|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V300F	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	804					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GGAACTAGAGGTTGCACGATT	0.448													37	45					2.19358e-23	3.0052e-23	1	0	T	75954373	G	T	75954373	3	4	326	1	0	0	0	0	1	0	0	0	7868	1261	44	4	2492	4	IQGAP2	5	75954373	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	12697792	75954373	104960887	67	57873											
TMEM167A	153339	broad.mit.edu	37	chr5	82357723	82357723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcacacttccaaaatatacCcaacaatctgcatagaataa	18	8	4	11	0	1	1	0	0	1	1	2	1	2	1	2	1	3	2	2	1	9	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:82357723C>T	ENST00000502346.1	-	3	293	c.121G>A	c.(121-123)Ggt>Agt	p.G41S	TMEM167A_ENST00000511450.1_5'UTR	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A	41						Golgi membrane|integral to membrane				large_intestine(1)|lung(1)	2						CAAAATATACCCAACAATCTG	0.303													9	40					0	0	0	0	T	82357723	C	T	82357723	3	4	326	1	0	0	0	0	1	0	0	0	16175	623	22	4	105	4	TMEM167A	5	82357723	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	6403350	82357723	98557537	68	57874											
BRD8	10902	broad.mit.edu	37	chr5	137476488	137476488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagcattttggaacatcAgcatcaggtctcgcaggaat	12	11	9	9	1	3	0	2	0	1	0	4	2	3	2	0	3	4	3	0	3	3	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:137476488A>G	ENST00000254900.5	-	26	3892	c.3521T>C	c.(3520-3522)cTg>cCg	p.L1174P		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1174	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGGAACATCAGCATCAGGTC	0.483													60	255					0	0	0	0	G	137476488	A	G	137476488	3	3	326	1	0	0	0	0	1	0	0	0	1514	188	7	5	194	5	BRD8	5	137476488	Missense_Mutation	SNP	A	TCGA-CV-7440-01A-11D-2129-08	55118765	137476488	43438772	69	57875											
WDR55	54853	broad.mit.edu	37	chr5	140048308	140048308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccccttaatggatatGaggcaacatgaagagtacat	14	8	12	7	0	0	3	0	2	0	1	0	5	0	4	2	3	2	2	2	3	5	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:140048308G>T	ENST00000358337.5	+	4	729	c.492G>T	c.(490-492)atG>atT	p.M164I		NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	164					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGGATATGAGGCAACATG	0.537													9	38					0.0477658	0.0482945	1	0	T	140048308	G	T	140048308	3	4	326	1	0	0	0	0	1	0	0	0	17403	1290	45	2	506	2	WDR55	5	140048308	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	2571820	140048308	40866952	70	57876											
PCDHA2	56146	broad.mit.edu	37	chr5	140184653	140184653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcttcccagatatggaaCttcaatcttcaaatccagct	11	14	5	11	0	4	1	2	0	2	1	6	2	6	2	2	1	2	1	2	1	4	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:140184653C>T	ENST00000520672.2	+	2	2503	c.2397C>T	c.(2395-2397)aaC>aaT	p.N799N	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron																NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATATGGAACTTCAATCTTC	0.358													6	8					0	0	0	0	T	140184653	C	T	140184653	2	4	326	1	0	0	0	0	0	0	0	1	11595	580	20	4		4	PCDHA2	5	140184653	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08	136345	140184653	40730607	71	57877											
PCDHA8	56140	broad.mit.edu	37	chr5	140223207	140223207	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggggccaccgaagacGgacctcatggccttcagccc	8	5	14	14	2	2	2	2	1	0	1	2	4	2	3	5	5	1	0	5	5	1	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:140223207G>C	ENST00000531613.1	+	1	2301	c.2301G>C	c.(2299-2301)acG>acC	p.T767T	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.T767T|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGAAGACGGACCTCATGG	0.572													12	33					0	0	0	0	C	140223207	G	C	140223207	2	2	326	1	0	0	0	0	0	0	0	1	11601	1103	39	3		3	PCDHA8	5	140223207	Silent	SNP	G	TCGA-CV-7440-01A-11D-2129-08	38554	140223207	40692053	72	57878											
PCDHB12	56124	broad.mit.edu	37	chr5	140588692	140588692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggtggtttctaatgataaCaaagagtgtttgcagctgga	11	12	13	5	1	1	2	0	1	1	1	1	3	1	3	0	3	3	4	0	3	3	4	rs145009914		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:140588692C>A	ENST00000239450.2	+	1	402	c.213C>A	c.(211-213)aaC>aaA	p.N71K	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		71	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAATGATAACAAAGAGTGTT	0.522													31	62					2.08457e-15	2.70697e-15	1	0	A	140588692	C	A	140588692	3	1	326	1	0	0	0	0	1	0	0	0	11608	477	17	4	215	4	PCDHB12	5	140588692	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	365485	140588692	40326568	73	57879											
WWC1	23286	broad.mit.edu	37	chr5	167855056	167855056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgtgaatacggcccaggGgtgtggcctgaaagtggcct	8	8	16	9	1	0	2	0	2	0	0	0	2	0	2	3	5	2	1	3	5	3	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:167855056G>T	ENST00000265293.4	+	12	2331	c.1829G>T	c.(1828-1830)gGg>gTg	p.G610V	WWC1_ENST00000521089.1_Missense_Mutation_p.G610V	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	610					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACGGCCCAGGGGTGTGGCCTG	0.542													15	31					6.31663e-08	7.18156e-08	1	0	T	167855056	G	T	167855056	3	4	326	1	0	0	0	0	1	0	0	0	17507	1232	43	4	1875	4	WWC1	5	167855056	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	27266364	167855056	13060204	74	57880											
SLIT3	6586	broad.mit.edu	37	chr5	168135107	168135107	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgatgtccactggcccTgggcagcaaaaccagagtac	11	8	11	11	0	0	2	0	1	0	1	1	2	1	2	3	2	3	4	3	2	3	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:168135107T>G	ENST00000519560.1	-	26	3139		c.e26-2		CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000332966.8_Silent_p.P913P|SLIT3_ENST00000404867.3_Splice_Site|CTC-558O2.1_ENST00000521870.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACTGGCCCTGGGCAGCAAA	0.612													5	41					0	0	0	0	G	168135107	T	G	168135107	5	3	326	1	0	0	0	0	0	0	1	0	14829	1594	55	5	1897	5	SLIT3	5	168135107	Splice_Site	SNP	T	TCGA-CV-7440-01A-11D-2129-08	280051	168135107	12780153	75	57881											
CDHR2	54825	broad.mit.edu	37	chr5	176005489	176005489	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagacggcgggaacctGtcctcctccaccacactgca	9	5	9	18	2	0	1	0	0	0	1	3	2	3	2	6	2	2	1	6	2	1	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176005489G>A	ENST00000510636.1	+	16	1972	c.1698G>A	c.(1696-1698)ctG>ctA	p.L566L	CDHR2_ENST00000261944.5_Silent_p.L566L|CDHR2_ENST00000506348.1_Silent_p.L566L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	566	Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCGGGAACCTGTCCTCCTCCA	0.627													4	23					0	0	0	0	A	176005489	G	A	176005489	2	1	326	1	0	0	0	0	0	0	0	1	3148	1364	48	4		4	CDHR2	5	176005489	Silent	SNP	G	TCGA-CV-7440-01A-11D-2129-08	7870382	176005489	4909771	76	57882											
NSD1	64324	broad.mit.edu	37	chr5	176637776	176637776	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttccgaagtataaagtgCaaacacaaagaaaatccagt	20	7	7	7	1	0	1	0	0	0	1	2	2	2	1	2	0	2	3	2	0	9	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176637776C>A	ENST00000439151.2	+	5	2421	c.2376C>A	c.(2374-2376)tgC>tgA	p.C792*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.C523*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.C523*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.C689*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	792					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTATAAAGTGCAAACACAAAG	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			11	38					0.000673444	0.000693698	1	0	A	176637776	C	A	176637776	4	1	326	1	0	0	0	0	0	1	0	0	10740	718	25	4	2390	4	NSD1	5	176637776	Nonsense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	632287	176637776	4277484	77	57883											
NSD1	64324	broad.mit.edu	37	chr5	176684042	176684042	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagttttaccatgaagagtGtgtccagaagtacccaccca	14	9	8	10	0	0	3	0	1	0	2	1	3	1	3	4	0	2	2	4	0	5	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176684042G>C	ENST00000439151.2	+	13	4901	c.4856G>C	c.(4855-4857)tGt>tCt	p.C1619S	NSD1_ENST00000354179.4_Missense_Mutation_p.C1350S|NSD1_ENST00000347982.4_Missense_Mutation_p.C1350S|NSD1_ENST00000361032.4_Missense_Mutation_p.C1516S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1619					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CATGAAGAGTGTGTCCAGAAG	0.468			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			39	50					0	0	0	0	C	176684042	G	C	176684042	3	2	326	1	0	0	0	0	1	0	0	0	10740	1377	48	4	4902	4	NSD1	5	176684042	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	46266	176684042	4231218	78	57884											
NSD1	64324	broad.mit.edu	37	chr5	176721512	176721512	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaaaacctcagttccCactggcctgagacttccgcc	9	8	9	15	1	1	2	1	1	0	2	3	4	3	2	5	2	1	1	5	2	2	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176721512C>A	ENST00000439151.2	+	23	7188	c.7143C>A	c.(7141-7143)ccC>ccA	p.P2381P	NSD1_ENST00000361032.4_Silent_p.P2278P|NSD1_ENST00000347982.4_Silent_p.P2112P|NSD1_ENST00000354179.4_Silent_p.P2112P	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2381	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTCAGTTCCCACTGGCCTGA	0.562			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			16	63					2.31682e-05	2.47008e-05	1	0	A	176721512	C	A	176721512	2	1	326	1	0	0	0	0	0	0	0	1	10740	581	21	4		4	NSD1	5	176721512	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08	37470	176721512	4193748	79	57885											
NCR2	9436	broad.mit.edu	37	chr6	41318574	41318574	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcaaggactaagataaGcgatgatgatgatgaacaca	16	9	11	5	1	0	5	0	4	0	1	0	7	0	6	0	1	3	2	0	1	4	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:41318574G>C	ENST00000373089.5	+	5	891	c.803G>C	c.(802-804)aGc>aCc	p.S268T	NCR2_ENST00000373083.4_3'UTR|NCR2_ENST00000373086.3_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	268					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					actaagataagcgatgatgat	0.408													16	34					0	0	0	0	C	41318574	G	C	41318574	3	2	326	1	0	0	0	0	1	0	0	0	10308	971	34	4	821	4	NCR2	6	41318574	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08		41318574	129796493	80	57886											
COL19A1	1310	broad.mit.edu	37	chr6	70778326	70778326	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcatagggttccctgggGatacaaggcccccaaggtcc	8	8	11	14	0	1	0	1	0	0	0	4	1	4	1	5	5	1	1	5	5	4	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:70778326G>T	ENST00000322773.4	+	15	1284	c.1182G>T	c.(1180-1182)ggG>ggT	p.G394G	COL19A1_ENST00000393344.1_Silent_p.G16G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	394	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTTCCCTGGGGATACAAGGCC	0.418													13	38					1.67942e-08	1.93262e-08	1	0	T	70778326	G	T	70778326	2	4	326	1	0	0	0	0	0	0	0	1	3706	1161	41	2		2	COL19A1	6	70778326	Silent	SNP	G	TCGA-CV-7440-01A-11D-2129-08	29459752	70778326	100336741	81	57887											
LIN28B	389421	broad.mit.edu	37	chr6	105474345	105474346	+	Frame_Shift_Ins	INS	-	-	A																															acactacagaaaagaaaaccINSaaagggagataggtaatcat																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:105474345_105474346insA	ENST00000345080.4	+	3	574_575	c.371_372insA	c.(370-372)caafs	p.Q124fs		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	124					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AAAAGAAAACCAAAGGGAGATA	0.376													25	83	---	---	---	---					A	105474346	-	A	105474345	7	5	326	1	0	1	1	0	0	0	0	0	8861	594	21	0	381	0	LIN28B	6	105474345	Frame_Shift_Ins	INS	-	TCGA-CV-7440-01A-11D-2129-08	34696019	105474345	65640722	82	57888											
SLC35F1	222553	broad.mit.edu	37	chr6	118556735	118556735	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtacatgattttgggactcaTagacctggaagcaaattatc	13	12	9	7	0	1	2	1	1	0	1	2	4	1	4	1	2	2	2	1	2	5	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:118556735T>C	ENST00000360388.4	+	3	614	c.413T>C	c.(412-414)aTa>aCa	p.I138T		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	138					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTGGGACTCATAGACCTGGAA	0.433													23	46					0	0	0	0	C	118556735	T	C	118556735	3	2	326	1	0	0	0	0	1	0	0	0	14676	1406	49	5	423	5	SLC35F1	6	118556735	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	13082390	118556735	52558332	83	57889											
FAM184A	79632	broad.mit.edu	37	chr6	119341265	119341265	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctcgatttttctgattCtaaatctttaattgtaactt	10	20	4	7	1	4	1	0	1	4	0	5	3	4	1	0	0	1	1	0	0	4	9			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:119341265C>A	ENST00000338891.7	-	4	1653	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	FAM184A_ENST00000352896.5_Nonsense_Mutation_p.E284*|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.E284*|FAM184A_ENST00000522284.1_Nonsense_Mutation_p.E284*|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.E404*	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	404										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTTTCTGATTCTAAATCTTTA	0.363													13	35					9.05144e-12	1.13766e-11	1	0	A	119341265	C	A	119341265	4	1	326	1	0	0	0	0	0	1	0	0	5553	922	32	2	2272	2	FAM184A	6	119341265	Nonsense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	784530	119341265	51773802	84	57890											
LAMA2	3908	broad.mit.edu	37	chr6	129674405	129674405	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcactgcctgtgccctgtgaCcctgtcacaggattctgcac	6	11	9	15	0	3	1	2	1	1	0	3	2	3	2	3	1	3	1	3	1	0	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:129674405C>G	ENST00000421865.2	+	32	4669	c.4620C>G	c.(4618-4620)gaC>gaG	p.D1540E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1540	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCCCTGTGACCCTGTCACAG	0.602													23	50					0	0	0	0	G	129674405	C	G	129674405	3	3	326	1	0	0	0	0	1	0	0	0	8659	506	18	4	4746	4	LAMA2	6	129674405	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	10333140	129674405	41440662	85	57891											
LAMA2	3908	broad.mit.edu	37	chr6	129714275	129714275	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatggagaaggatctccggGaaaaactggctgactacaaa	17	6	11	7	1	1	2	0	1	1	1	2	5	1	4	1	4	2	1	1	4	6	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:129714275G>T	ENST00000421865.2	+	37	5369	c.5320G>T	c.(5320-5322)Gaa>Taa	p.E1774*		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1774	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGATCTCCGGGAAAAACTGGC	0.448													17	47					4.7546e-09	5.59125e-09	1	0	T	129714275	G	T	129714275	4	4	326	1	0	0	0	0	0	1	0	0	8659	1175	41	2	5466	2	LAMA2	6	129714275	Nonsense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	39870	129714275	41400792	86	57892											
ENPP3	5169	broad.mit.edu	37	chr6	132039838	132039838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcaaatacaaattgtggagGaggcaaccatggttataaca	17	9	9	6	0	1	0	1	0	0	0	1	2	1	2	1	4	3	2	1	4	6	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:132039838G>A	ENST00000414305.1	+	17	1767	c.1439G>A	c.(1438-1440)gGa>gAa	p.G480E	ENPP3_ENST00000357639.3_Missense_Mutation_p.G480E|ENPP3_ENST00000358229.5_Missense_Mutation_p.G480E			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	480	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AATTGTGGAGGAGGCAACCAT	0.294													25	67					0	0	0	0	A	132039838	G	A	132039838	3	1	326	1	0	0	0	0	1	0	0	0	5169	1174	41	2	1501	2	ENPP3	6	132039838	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	2325563	132039838	39075229	87	57893											
SYNE1	23345	broad.mit.edu	37	chr6	152665276	152665276	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttggctctaaatccggctgGactgcagaaagccaggcctg	9	8	12	12	1	1	1	0	0	1	1	2	2	2	2	3	4	2	3	3	4	3	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:152665276G>T	ENST00000367255.5	-	74	12766	c.12165C>A	c.(12163-12165)gtC>gtA	p.V4055V	SYNE1_ENST00000448038.1_Silent_p.V3984V|SYNE1_ENST00000423061.1_Silent_p.V3984V|SYNE1_ENST00000265368.4_Silent_p.V4055V|SYNE1_ENST00000341594.5_Silent_p.V3920V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4055					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.V4055V(2)|p.V3984V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCCGGCTGGACTGCAGAAA	0.483										HNSCC(10;0.0054)			42	39					3.61848e-18	4.78968e-18	1	0	T	152665276	G	T	152665276	2	4	326	1	0	0	0	0	0	0	0	1	15536	1161	41	2		2	SYNE1	6	152665276	Silent	SNP	G	TCGA-CV-7440-01A-11D-2129-08	20625438	152665276	18449791	88	57894											
SDK1	221935	broad.mit.edu	37	chr7	4188976	4188976	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctccagtgggtcccgggCagcgacggggcctcccccat	4	5	15	17	4	0	0	0	0	0	0	3	1	3	0	5	5	1	2	5	5	0	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:4188976C>T	ENST00000404826.2	+	30	4645	c.4506C>T	c.(4504-4506)ggC>ggT	p.G1502G	SDK1_ENST00000389531.3_Silent_p.G1502G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1502	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGTCCCGGGCAGCGACGGGG	0.677													10	22					0	0	0	0	T	4188976	C	T	4188976	2	4	326	1	0	0	0	0	0	0	0	1	14055	697	25	4		4	SDK1	7	4188976	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08		4188976	154949687	89	57895											
SLC29A4	222962	broad.mit.edu	37	chr7	5342477	5342477	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgacgctggggtccgcCgtggcctactgcacctacag	5	7	15	14	3	0	1	0	1	0	0	1	1	1	1	4	4	3	3	4	4	2	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr7:5342477C>T	ENST00000396872.2	+	11	1661	c.1500C>T	c.(1498-1500)gcC>gcT	p.A500A	SLC29A4_ENST00000297195.4_Silent_p.A500A|SLC29A4_ENST00000406453.3_Silent_p.A486A|SLC29A4_ENST00000439491.2_Intron	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	500					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TGGGGTCCGCCGTGGCCTACT	0.677													3	3					0	0	0	0	T	5342477	C	T	5342477	2	4	326	1	0	0	0	0	0	0	0	1	14625	639	23	1		1	SLC29A4	7	5342477	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08	1153501	5342477	153796186	90	57896											
ABCA13	154664	broad.mit.edu	37	chr7	48312325	48312325	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttaagacagcagaggttcTtgggggaatttctaatgtat	12	14	11	4	0	2	2	0	0	2	2	2	3	2	3	0	3	1	3	0	3	4	7			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:48312325T>A	ENST00000435803.1	+	17	3086	c.3062T>A	c.(3061-3063)cTt>cAt	p.L1021H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1021					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						GCAGAGGTTCTTGGGGGAATT	0.338													8	13					0	0	0	0	A	48312325	T	A	48312325	3	1	326	1	0	0	0	0	1	0	0	0	31	1609	56	5	2957	5	ABCA13	7	48312325	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	42969848	48312325	110826338	91	57897											
PCLO	27445	broad.mit.edu	37	chr7	82582945	82582945	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagatgcaactgttaactTttttttaggaagaatagttg	12	16	10	3	0	0	2	0	0	0	2	0	4	0	3	0	2	3	3	0	2	6	7			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:82582945T>A	ENST00000423517.2	-	5	7661	c.7324A>T	c.(7324-7326)Aag>Tag	p.K2442*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.K2442*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2373	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTGTTAACTTTTTTTTAGGA	0.498													3	12					0	0	0	0	A	82582945	T	A	82582945	4	1	326	1	0	0	0	0	0	1	0	0	11654	1850	64	5	8205	5	PCLO	7	82582945	Nonsense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	34270620	82582945	76555718	92	57898											
GRM3	2913	broad.mit.edu	37	chr7	86479718	86479718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accatgtgcatctctgtcagCctgagtggctttgtggtctt	5	15	11	10	0	3	1	1	1	2	0	4	1	3	1	2	2	2	2	2	2	0	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:86479718C>T	ENST00000394720.2	+	4	1528	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	GRM3_ENST00000439827.1_Missense_Mutation_p.P453S|GRM3_ENST00000361669.2_Silent_p.S808S|GRM3_ENST00000546348.1_Silent_p.S400S|GRM3_ENST00000536043.1_Silent_p.S680S			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCTCTGTCAGCCTGAGTGGCT	0.488													17	30					0	0	0	0	T	86479718	C	T	86479718	3	4	326	1	0	0	0	0	1	0	0	0	6848	738	26	4	2438	4	GRM3	7	86479718	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	3896773	86479718	72658945	93	57899											
TRRAP	8295	broad.mit.edu	37	chr7	98609784	98609784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctctcctctctcggccGccgggcagccagagaacatg	6	7	11	17	4	2	1	0	0	2	1	6	2	3	1	5	2	2	1	5	2	1	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:98609784G>T	ENST00000359863.4	+	72	11595	c.11386G>T	c.(11386-11388)Gcc>Tcc	p.A3796S	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3785S|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3767S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3796	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTCTCGGCCGCCGGGCAGCC	0.582													16	23					1.99824e-07	2.25315e-07	1	0	T	98609784	G	T	98609784	3	4	326	1	0	0	0	0	1	0	0	0	16696	1087	38	3	11577	3	TRRAP	7	98609784	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	12130066	98609784	60528879	94	57900											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757693	99757693	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggggctcaatccactcCgaagtatatagcccaaaacc	12	8	8	13	1	1	0	1	0	0	0	3	1	3	0	4	2	2	2	4	2	7	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:99757693C>A	ENST00000360039.4	-	4	1711	c.1319G>T	c.(1318-1320)cGg>cTg	p.R440L	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R440L|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R378L	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	440					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAATCCACTCCGAAGTATATA	0.557													14	67					1.05317e-09	1.26565e-09	1	0	A	99757693	C	A	99757693	3	1	326	1	0	0	0	0	1	0	0	0	6249	652	23	3	145	3	GAL3ST4	7	99757693	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	1147909	99757693	59380970	95	57901											
FBXL13	222235	broad.mit.edu	37	chr7	102604000	102604000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacagatctgaaagttttgGgtcggagaagacaaccacga	14	8	12	7	2	1	5	0	2	1	3	2	7	1	5	1	2	1	1	1	2	3	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:102604000G>T	ENST00000393772.2	-	8	1130	c.704C>A	c.(703-705)cCc>cAc	p.P235H	FBXL13_ENST00000456695.1_Missense_Mutation_p.P235H|FBXL13_ENST00000455112.2_Missense_Mutation_p.P235H|FBXL13_ENST00000436908.1_Missense_Mutation_p.P235H|FBXL13_ENST00000379305.3_Missense_Mutation_p.P235H|FBXL13_ENST00000379306.3_Missense_Mutation_p.P235H|FBXL13_ENST00000379308.3_Missense_Mutation_p.P235H|FBXL13_ENST00000313221.4_Missense_Mutation_p.P235H|FBXL13_ENST00000471074.1_5'UTR			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	235										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GAAAGTTTTGGGTCGGAGAAG	0.328													20	55					3.62473e-10	4.39459e-10	1	0	T	102604000	G	T	102604000	3	4	326	1	0	0	0	0	1	0	0	0	5754	1232	43	4	1555	4	FBXL13	7	102604000	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	2846307	102604000	56534663	96	57902											
DOCK4	9732	broad.mit.edu	37	chr7	111379256	111379256	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcttggtgacaggcaagaGttttctcgggaatgtttgtg	7	15	13	6	1	2	2	0	1	2	1	4	3	2	3	0	3	0	3	0	3	2	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:111379256G>A	ENST00000428084.1	-	49	5438	c.5166C>T	c.(5164-5166)aaC>aaT	p.N1722N	DOCK4_ENST00000437633.1_Silent_p.N1713N|DOCK4_ENST00000494651.2_Silent_p.N596N			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1713	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACAGGCAAGAGTTTTCTCGGG	0.483													15	85					0	0	0	0	A	111379256	G	A	111379256	2	1	326	1	0	0	0	0	0	0	0	1	4725	1020	36	4		4	DOCK4	7	111379256	Silent	SNP	G	TCGA-CV-7440-01A-11D-2129-08	8775256	111379256	47759407	97	57903											
CHRM2	1129	broad.mit.edu	37	chr7	136700500	136700500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgctgttgcctctaatatGagagatgatgaaataaccca	14	11	9	7	0	1	4	0	3	1	1	1	5	1	4	2	0	3	2	2	0	4	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:136700500G>C	ENST00000445907.2	+	3	1416	c.888G>C	c.(886-888)atG>atC	p.M296I	CHRM2_ENST00000402486.3_Missense_Mutation_p.M296I|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.M296I|CHRM2_ENST00000453373.1_Missense_Mutation_p.M296I|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.M296I|CHRM2_ENST00000320658.5_Missense_Mutation_p.M296I|AC009264.1_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	296					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCTCTAATATGAGAGATGATG	0.478													9	67					0	0	0	0	C	136700500	G	C	136700500	3	2	326	1	0	0	0	0	1	0	0	0	3406	1290	45	2	890	2	CHRM2	7	136700500	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	25321244	136700500	22438163	98	57904											
TMEM213	155006	broad.mit.edu	37	chr7	138487681	138487681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaagcagcccggtgctgccGcacaggagtggacgagtacg	10	4	15	12	4	0	0	0	0	0	0	0	3	0	2	2	3	5	4	2	3	2	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:138487681G>A	ENST00000442682.2	+	3	344	c.191G>A	c.(190-192)cGc>cAc	p.R64H	TMEM213_ENST00000458494.1_Missense_Mutation_p.R40H|TMEM213_ENST00000413208.1_Intron|TMEM213_ENST00000422794.2_Missense_Mutation_p.R114H|TMEM213_ENST00000397602.3_Missense_Mutation_p.R63H	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213	64						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CGGTGCTGCCGCACAGGAGTG	0.627													19	36					0	0	0	0	A	138487681	G	A	138487681	3	1	326	1	0	0	0	0	1	0	0	0	16230	1087	38	1	201	1	TMEM213	7	138487681	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	1787181	138487681	20650982	99	57905											
EPHA1	2041	broad.mit.edu	37	chr7	143095840	143095841	+	Frame_Shift_Ins	INS	-	-	G																															tgcaggtgtggtgagcccccINSgggcccccggcgagaagtgc																								rs143087087		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:143095840_143095841insG	ENST00000275815.3	-	6	1275_1276	c.1189_1190insC	c.(1189-1191)gggfs	p.G397fs		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	397	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGTGAGCCCCCGGGCCCCCGGC	0.614													13	41	---	---	---	---					G	143095841	-	G	143095840	7	5	326	1	0	1	1	0	0	0	0	0	5203	652	23	0	1792	0	EPHA1	7	143095840	Frame_Shift_Ins	INS	-	TCGA-CV-7440-01A-11D-2129-08	4608159	143095840	16042823	100	57906											
ZNF398	57541	broad.mit.edu	37	chr7	148851047	148851047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgcagacatctgaatGggactccgagtgccttacat	10	10	10	11	1	1	2	0	1	1	1	2	4	2	3	2	1	4	2	2	1	2	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:148851047G>T	ENST00000475153.1	+	2	302	c.35G>T	c.(34-36)tGg>tTg	p.W12L	ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.W17L|ZNF398_ENST00000491174.1_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	12					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			ACATCTGAATGGGACTCCGAG	0.493													21	88					2.98393e-07	3.35081e-07	1	0	T	148851047	G	T	148851047	3	4	326	1	0	0	0	0	1	0	0	0	17980	1357	47	4	41	4	ZNF398	7	148851047	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	5755207	148851047	10287616	101	57907											
ZNF862	643641	broad.mit.edu	37	chr7	149545456	149545456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaggcaaaaagaaatcactGatggcatccacagctcctca	15	7	8	11	0	2	3	2	2	0	1	4	3	4	3	2	2	1	3	2	2	3	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:149545456G>A	ENST00000223210.4	+	4	1119	c.874G>A	c.(874-876)Gat>Aat	p.D292N		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGAAATCACTGATGGCATCCA	0.403													3	14					0	0	0	0	A	149545456	G	A	149545456	3	1	326	1	0	0	0	0	1	0	0	0	18288	1290	45	2	888	2	ZNF862	7	149545456	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	694409	149545456	9593207	102	57908											
USP17L2	377630	broad.mit.edu	37	chr8	11994697	11994697	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcactggcacacaagcagagCcctcttgctgtgtttgttct	7	13	9	12	0	3	1	1	0	2	1	3	1	3	1	1	1	3	5	1	1	1	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:11994697C>A	ENST00000333796.3	-	1	1889	c.1573G>T	c.(1573-1575)Gct>Tct	p.A525S	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	525					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ACAAGCAGAGCCCTCTTGCTG	0.577													12	42					1.05317e-09	1.26565e-09	1	0	A	11994697	C	A	11994697	3	1	326	1	0	0	0	0	1	0	0	0	17144	739	26	4	23	4	USP17L2	8	11994697	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08		11994697	134369325	103	57909											
ANK1	286	broad.mit.edu	37	chr8	41572572	41572572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgtacttggccgccacGtgcagaggggtaaatccttt	7	11	11	12	3	0	1	0	0	0	1	2	1	2	1	4	3	2	3	4	3	3	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:41572572G>A	ENST00000396942.1	-	15	1706	c.1623C>T	c.(1621-1623)caC>caT	p.H541H	ANK1_ENST00000352337.4_Silent_p.H541H|ANK1_ENST00000289734.7_Silent_p.H541H|ANK1_ENST00000265709.8_Silent_p.H574H|ANK1_ENST00000396945.1_Silent_p.H541H|ANK1_ENST00000379758.2_Silent_p.H541H|ANK1_ENST00000347528.4_Silent_p.H541H			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	541	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.H541H(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCGCCACGTGCAGAGGGG	0.627													24	67					0	0	0	0	A	41572572	G	A	41572572	2	1	326	1	0	0	0	0	0	0	0	1	620	1136	40	1		1	ANK1	8	41572572	Silent	SNP	G	TCGA-CV-7440-01A-11D-2129-08	29577875	41572572	104791450	104	57910											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886180	88886180	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgtctgcttcctcgagcagtCgcggtcttttgctctccatt	3	16	9	13	3	3	0	0	0	3	0	7	1	4	0	2	1	3	3	2	1	0	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:88886180C>G	ENST00000319675.3	-	1	116	c.20G>C	c.(19-21)cGa>cCa	p.R7P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	7										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTCGAGCAGTCGCGGTCTTTT	0.522													14	34					0	0	0	0	G	88886180	C	G	88886180	3	3	326	1	0	0	0	0	1	0	0	0	4305	884	31	3	1171	3	DCAF4L2	8	88886180	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	47313608	88886180	57477842	105	57911											
RIPK2	8767	broad.mit.edu	37	chr8	90798848	90798848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggatcctctcagctccatGaaaatagtggttctcctgaa	10	12	9	10	0	2	2	1	2	2	0	6	3	4	3	3	2	1	2	3	2	4	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:90798848G>A	ENST00000220751.4	+	9	1371	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	RIPK2_ENST00000540020.1_Missense_Mutation_p.E216K	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	353					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TCAGCTCCATGAAAATAGTGG	0.318													24	112					0	0	0	0	A	90798848	G	A	90798848	3	1	326	1	0	0	0	0	1	0	0	0	13466	1291	45	2	1091	2	RIPK2	8	90798848	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	1912668	90798848	55565174	106	57912											
KIAA1429	25962	broad.mit.edu	37	chr8	95538791	95538791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaatctctgacaagacttCatagaaatggcatttttgga	13	15	7	6	0	2	3	1	1	1	2	3	4	2	4	0	2	0	1	0	2	4	6			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:95538791C>T	ENST00000297591.5	-	8	1756	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K	KIAA1429_ENST00000421249.2_Missense_Mutation_p.E561K|KIAA1429_ENST00000437199.1_Missense_Mutation_p.E561K	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	561					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GACAAGACTTCATAGAAATGG	0.403													33	164					0	0	0	0	T	95538791	C	T	95538791	3	4	326	1	0	0	0	0	1	0	0	0	8282	835	29	2	3879	2	KIAA1429	8	95538791	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	4739943	95538791	50825231	107	57913											
ANKRD46	157567	broad.mit.edu	37	chr8	101541965	101541965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atttgggtcaaagccactttCcaaaagccgcttggaataat	13	11	8	9	1	1	0	1	0	0	0	2	1	2	1	3	2	2	1	3	2	5	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:101541965C>T	ENST00000520311.1	-	3	900	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	ANKRD46_ENST00000520552.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000519597.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000519316.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000335659.3_Missense_Mutation_p.E33K	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	33						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AAGCCACTTTCCAAAAGCCGC	0.453													14	90					0	0	0	0	T	101541965	C	T	101541965	3	4	326	1	0	0	0	0	1	0	0	0	673	864	30	2	601	2	ANKRD46	8	101541965	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	6003174	101541965	44822057	108	57914											
SYBU	55638	broad.mit.edu	37	chr8	110587410	110587410	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatccagctctctcatgaGgcggtttgcatgaacttctg	10	12	9	10	1	3	2	1	2	2	0	5	2	4	2	1	2	3	3	1	2	3	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:110587410G>C	ENST00000399066.3	-	6	2435	c.1708C>G	c.(1708-1710)Ctc>Gtc	p.L570V	SYBU_ENST00000433638.1_Missense_Mutation_p.L573V|SYBU_ENST00000533895.1_Missense_Mutation_p.L572V|SYBU_ENST00000528331.1_Missense_Mutation_p.L454V|SYBU_ENST00000408889.3_Missense_Mutation_p.L454V|SYBU_ENST00000529690.1_Missense_Mutation_p.L443V|SYBU_ENST00000528647.1_Missense_Mutation_p.L572V|SYBU_ENST00000419099.1_Missense_Mutation_p.L572V|SYBU_ENST00000408908.2_Missense_Mutation_p.L573V|SYBU_ENST00000424158.2_Missense_Mutation_p.L578V|SYBU_ENST00000422135.1_Missense_Mutation_p.L573V|SYBU_ENST00000446070.2_Missense_Mutation_p.L572V|SYBU_ENST00000533065.1_Missense_Mutation_p.L454V|SYBU_ENST00000533171.1_Missense_Mutation_p.L573V|SYBU_ENST00000529175.1_Missense_Mutation_p.L367V|SYBU_ENST00000532779.1_Missense_Mutation_p.L505V|SYBU_ENST00000276646.9_Missense_Mutation_p.L573V|SYBU_ENST00000440310.1_Missense_Mutation_p.L573V	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	573						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCTCTCATGAGGCGGTTTGCA	0.547													12	69					0	0	0	0	C	110587410	G	C	110587410	3	2	326	1	0	0	0	0	1	0	0	0	15517	1000	35	4	278	4	SYBU	8	110587410	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	9045445	110587410	35776612	109	57915											
CSMD3	114788	broad.mit.edu	37	chr8	113256689	113256689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctatgttctgttccacCtgctaagaagaagccaggct	10	11	8	12	0	2	2	0	0	2	2	3	2	3	2	3	1	2	4	3	1	4	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:113256689C>A	ENST00000297405.5	-	65	10580	c.10336G>T	c.(10336-10338)Ggt>Tgt	p.G3446C	CSMD3_ENST00000343508.3_Missense_Mutation_p.G3406C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3376C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3277C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3446	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGTTCCACCTGCTAAGAAG	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	75					3.41278e-10	4.15601e-10	1	0	A	113256689	C	A	113256689	3	1	326	1	0	0	0	0	1	0	0	0	3978	681	24	4	815	4	CSMD3	8	113256689	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	2669279	113256689	33107333	110	57916											
FER1L6	654463	broad.mit.edu	37	chr8	125061872	125061872	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagaatatttgggtgccAcagtggctgctcctgttgtg	7	12	13	9	0	0	1	0	0	0	1	1	1	1	1	3	2	3	3	3	2	2	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:125061872A>G	ENST00000522917.1	+	22	2955	c.2749A>G	c.(2749-2751)Aca>Gca	p.T917A	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.T917A	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	917	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTGGGTGCCACAGTGGCTGC	0.473													14	49					0	0	0	0	G	125061872	A	G	125061872	3	3	326	1	0	0	0	0	1	0	0	0	5860	159	6	5	2831	5	FER1L6	8	125061872	Missense_Mutation	SNP	A	TCGA-CV-7440-01A-11D-2129-08	11805183	125061872	21302150	111	57917											
PTP4A3	11156	broad.mit.edu	37	chr8	142437153	142437153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgtggctgtgcactgcGtggcgggcctgggccggtga	2	8	20	11	4	0	1	0	1	0	0	0	1	0	1	2	5	3	3	2	5	0	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:142437153G>T	ENST00000520105.1	+	4	1256	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	PTP4A3_ENST00000521578.1_Missense_Mutation_p.V105L|PTP4A3_ENST00000329397.1_Missense_Mutation_p.V105L|PTP4A3_ENST00000349124.1_Missense_Mutation_p.V105L|PTP4A3_ENST00000524028.1_Intron			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	105	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TGTGCACTGCGTGGCGGGCCT	0.682													27	147					8.53417e-09	9.95048e-09	1	0	T	142437153	G	T	142437153	3	4	326	1	0	0	0	0	1	0	0	0	12852	1145	40	3	323	3	PTP4A3	8	142437153	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	17375281	142437153	3926869	112	57918											
GPAA1	8733	broad.mit.edu	37	chr8	145140516	145140516	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaggggctggatggcaCtgaagctggtagccctgatc	9	7	15	10	0	0	3	0	2	0	1	1	4	0	4	1	5	2	4	1	5	2	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:145140516C>A	ENST00000355091.4	+	11	1613	c.1492C>A	c.(1492-1494)Ctg>Atg	p.L498M	GPAA1_ENST00000361036.6_Missense_Mutation_p.L438M	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	498					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGATGGCACTGAAGCTGGT	0.597													30	97					4.74835e-14	6.07967e-14	1	0	A	145140516	C	A	145140516	3	1	326	1	0	0	0	0	1	0	0	0	6636	564	20	4	1534	4	GPAA1	8	145140516	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	2703363	145140516	1223506	113	57919											
TRPM3	80036	broad.mit.edu	37	chr9	73150933	73150933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtctcctcatggacaggCtgtcccctcggccctccggc	5	8	10	18	2	2	0	1	0	1	0	6	1	4	1	5	4	0	1	5	4	0	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:73150933C>A	ENST00000377110.2	-	25	5303	c.5060G>T	c.(5059-5061)aGc>aTc	p.S1687I	TRPM3_ENST00000358082.3_Missense_Mutation_p.S1549I|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1546I|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1559I|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1559I|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1714I|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1691I|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1546I|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1549I|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1546I|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1536I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1712						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CATGGACAGGCTGTCCCCTCG	0.522													40	72					2.19489e-29	3.05279e-29	1	0	A	73150933	C	A	73150933	3	1	326	1	0	0	0	0	1	0	0	0	16682	797	28	4	67	4	TRPM3	9	73150933	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08		73150933	68062498	114	57920											
ABCA1	19	broad.mit.edu	37	chr9	107547893	107547893	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggttggaccctgctattcgTacaactattgtataaccatc	10	13	8	10	1	0	0	0	0	0	0	2	1	0	1	2	2	4	4	2	2	6	8			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:107547893T>C	ENST00000374736.3	-	49	6823	c.6429A>G	c.(6427-6429)gtA>gtG	p.V2143V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2143	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGCTATTCGTACAACTATTG	0.428													11	63					0	0	0	0	C	107547893	T	C	107547893	2	2	326	1	0	0	0	0	0	0	0	1	28	1625	57	5		5	ABCA1	9	107547893	Silent	SNP	T	TCGA-CV-7440-01A-11D-2129-08	34396960	107547893	33665538	115	57921											
SVEP1	79987	broad.mit.edu	37	chr9	113163273	113163273	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatcggagaatggtggcTcccaggttccatcaagctaa	11	10	10	10	1	2	1	2	0	0	1	5	2	4	1	2	4	1	3	2	4	3	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:113163273T>C	ENST00000401783.2	-	40	10019	c.9683A>G	c.(9682-9684)gAg>gGg	p.E3228G	SVEP1_ENST00000374469.1_Missense_Mutation_p.E3205G|SVEP1_ENST00000297826.5_Missense_Mutation_p.E1154G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3228	Sushi 30.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAATGGTGGCTCCCAGGTTCC	0.368													14	29					0	0	0	0	C	113163273	T	C	113163273	3	2	326	1	0	0	0	0	1	0	0	0	15510	1551	54	5	1068	5	SVEP1	9	113163273	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	5615380	113163273	28050158	116	57922											
PAPPA	5069	broad.mit.edu	37	chr9	119097340	119097340	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagaggggagacctacagcCctgccgagcagaggtaaggg	12	3	17	9	1	0	3	0	0	0	3	0	6	0	3	3	4	4	2	3	4	2	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:119097340C>A	ENST00000328252.3	+	13	3967	c.3598C>A	c.(3598-3600)Cct>Act	p.P1200T	PAPPA_ENST00000534838.1_Missense_Mutation_p.P238T	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1200					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GACCTACAGCCCTGCCGAGCA	0.617													9	54					0.00829132	0.00844543	1	0	A	119097340	C	A	119097340	3	1	326	1	0	0	0	0	1	0	0	0	11503	623	22	4	3648	4	PAPPA	9	119097340	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	5934067	119097340	22116091	117	57923											
COL5A1	1289	broad.mit.edu	37	chr9	137704317	137704317	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccaggacctccaggcgAgaagggtgagacaggagacg	11	5	16	9	2	0	3	0	1	0	3	1	7	1	4	3	4	1	0	3	4	1	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:137704317A>G	ENST00000371817.3	+	47	4127	c.3713A>G	c.(3712-3714)gAg>gGg	p.E1238G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1238	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTCCAGGCGAGAAGGGTGAG	0.527													6	40					0	0	0	0	G	137704317	A	G	137704317	3	3	326	1	0	0	0	0	1	0	0	0	3726	304	11	5	3899	5	COL5A1	9	137704317	Missense_Mutation	SNP	A	TCGA-CV-7440-01A-11D-2129-08	18606977	137704317	3509114	118	57924											
FBXO18	84893	broad.mit.edu	37	chr10	5953002	5953002	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccggagacccagctccacGgtgaccatgccagatgtcac	9	6	10	16	2	1	3	1	1	0	2	3	4	3	3	5	2	2	1	5	2	0	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:5953002G>T	ENST00000379999.5	+	7	1379	c.1275G>T	c.(1273-1275)acG>acT	p.T425T	FBXO18_ENST00000362091.4_Silent_p.T374T|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379994.1_Silent_p.T111T	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	374				K -> N (in Ref. 2; AAP97705).	DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCAGCTCCACGGTGACCATGC	0.582													17	96					1.33834e-09	1.59437e-09	1	0	T	5953002	G	T	5953002	2	4	326	1	0	0	0	0	0	0	0	1	5776	1103	39	3		3	FBXO18	10	5953002	Silent	SNP	G	TCGA-CV-7440-01A-11D-2129-08		5953002	129581745	119	57925											
ITGA8	8516	broad.mit.edu	37	chr10	15646284	15646284	+	Frame_Shift_Del	DEL	C	C	-																															ttcagcttcatatgctccttCcccttcatttcttgcattta																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:15646284delC	ENST00000378076.3	-	20	2394	c.2041delG	c.(2041-2043)aafs	p.E681fs		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	681					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATGCTCCTTCCCCTTCATTT	0.358													12	36	---	---	---	---					-	15646284	C	-	15646284	7	5	326	1	0	1	0	1	0	0	0	0	7935	864	30	0	1194	0	ITGA8	10	15646284	Frame_Shift_Del	DEL	C	TCGA-CV-7440-01A-11D-2129-08	9693282	15646284	119888463	120	57926											
PARD3	56288	broad.mit.edu	37	chr10	34690830	34690830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacacgactgttatcctcttCtgtcccatcctcatcctaga	9	13	4	15	1	3	1	1	0	2	1	7	2	7	1	4	0	1	1	4	0	3	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:34690830C>T	ENST00000374789.3	-	6	1055	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	PARD3_ENST00000544292.1_5'UTR|PARD3_ENST00000374788.3_Missense_Mutation_p.E244K|PARD3_ENST00000346874.4_Missense_Mutation_p.E244K|PARD3_ENST00000374790.3_Missense_Mutation_p.E200K|PARD3_ENST00000350537.4_Missense_Mutation_p.E244K|PARD3_ENST00000340077.5_Missense_Mutation_p.E244K|PARD3_ENST00000545260.1_Missense_Mutation_p.E200K|PARD3_ENST00000374773.1_Missense_Mutation_p.E244K|PARD3_ENST00000374794.3_Missense_Mutation_p.E200K|PARD3_ENST00000374776.1_Missense_Mutation_p.E244K|PARD3_ENST00000545693.1_Missense_Mutation_p.E244K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	244					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTATCCTCTTCTGTCCCATCC	0.428													58	119					0	0	0	0	T	34690830	C	T	34690830	3	4	326	1	0	0	0	0	1	0	0	0	11514	922	32	2	3455	2	PARD3	10	34690830	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	19044546	34690830	100843917	121	57927											
ANKRD30A	91074	broad.mit.edu	37	chr10	37419231	37419231	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacacggctctccattaTgctgtttatagtgagatttt	9	15	9	8	1	1	1	0	1	1	1	2	2	1	1	1	2	2	4	1	2	4	6			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:37419231T>G	ENST00000374660.1	+	3	366	c.267T>G	c.(265-267)taT>taG	p.Y89*	ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.Y89*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Y89*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	145						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTCTCCATTATGCTGTTTATA	0.433													16	32					0	0	0	0	G	37419231	T	G	37419231	4	3	326	1	0	0	0	0	0	1	0	0	658	1471	51	5	277	5	ANKRD30A	10	37419231	Nonsense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	2728401	37419231	98115516	122	57928											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508037	37508037	+	Frame_Shift_Del	DEL	T	T	-																															aggaaaaggaaaataaatacTttgaggacattaagatttta																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:37508037delT	ENST00000374660.1	+	40	3685	c.3586delT	c.(3586-3588)ttfs	p.F1196fs	ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.F1077fs|ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.F1077fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1165						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATAAATACTTTGAGGACAT	0.333													24	96	---	---	---	---					-	37508037	T	-	37508037	7	5	326	1	0	1	0	1	0	0	0	0	658	1609	56	0	3363	0	ANKRD30A	10	37508037	Frame_Shift_Del	DEL	T	TCGA-CV-7440-01A-11D-2129-08	88806	37508037	98026710	123	57929											
AGAP4	119016	broad.mit.edu	37	chr10	46322017	46322017	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcccacgcatgttttggatCgactgcagggccatggcctt	6	12	11	12	2	0	0	0	0	0	0	2	2	1	1	3	3	1	3	3	3	0	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:46322017C>T	ENST00000448048.2	-	7	1463	c.1338G>A	c.(1336-1338)tcG>tcA	p.S446S		NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	446	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)|lung(1)|ovary(1)	3						TGTTTTGGATCGACTGCAGGG	0.552													63	48					0	0	0	0	T	46322017	C	T	46322017	2	4	326	1	0	0	0	0	0	0	0	1	370	871	31	1		1	AGAP4	10	46322017	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08	8813980	46322017	89212730	124	57930											
SLC18A3	6572	broad.mit.edu	37	chr10	50820232	50820232	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgctcccgttccgagcgCgatgtgctgcttgatgagcc	5	9	13	14	6	0	2	0	2	0	0	2	4	2	2	3	0	4	4	3	0	0	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:50820232C>T	ENST00000374115.3	+	1	1886	c.1446C>T	c.(1444-1446)cgC>cgT	p.R482R	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	482					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GTTCCGAGCGCGATGTGCTGC	0.667													40	42					0	0	0	0	T	50820232	C	T	50820232	2	4	326	1	0	0	0	0	0	0	0	1	14515	755	27	1		1	SLC18A3	10	50820232	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08	4498215	50820232	84714515	125	57931											
GRID1	2894	broad.mit.edu	37	chr10	87614326	87614326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggacatagggattcgaaCtgtcctcccgaaactccatc	11	9	8	13	2	0	0	0	0	0	0	5	4	3	2	3	2	2	0	3	2	3	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:87614326C>A	ENST00000327946.7	-	8	1245	c.1160G>T	c.(1159-1161)aGt>aTt	p.S387I		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	387						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGGATTCGAACTGTCCTCCCG	0.498										Multiple Myeloma(13;0.14)			7	67					0.0581538	0.0585814	1	0	A	87614326	C	A	87614326	3	1	326	1	0	0	0	0	1	0	0	0	6821	565	20	4	1905	4	GRID1	10	87614326	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	36794094	87614326	47920421	126	57932											
ABCC2	1244	broad.mit.edu	37	chr10	101591889	101591889	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgaacaggtttgccggcGtaagtatctcaagaactgtc	10	12	11	8	2	1	2	1	1	1	1	3	2	1	2	1	2	3	3	1	2	5	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:101591889G>A	ENST00000370449.4	+	23	3371		c.e23+1			NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2							apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTTTGCCGGCGTAAGTATCTC	0.433													10	63					0	0	0	0	A	101591889	G	A	101591889	5	1	326	1	0	0	0	0	0	0	1	0	53	1159	40	1	3349	1	ABCC2	10	101591889	Splice_Site	SNP	G	TCGA-CV-7440-01A-11D-2129-08	13977563	101591889	33942858	127	57933											
C10orf76	79591	broad.mit.edu	37	chr10	103789339	103789339	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtctgctgatagtgtcCaggaacagctgtcagaagct	10	12	11	8	0	2	2	1	1	1	1	3	3	3	3	1	1	4	3	1	1	3	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:103789339C>A	ENST00000311122.5	-	5	589	c.470G>T	c.(469-471)tGg>tTg	p.W157L	C10orf76_ENST00000370033.4_Intron			Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	0						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TGATAGTGTCCAGGAACAGCT	0.438													11	54					3.86212e-05	4.08579e-05	1	0	A	103789339	C	A	103789339	3	1	326	1	0	0	0	0	1	0	0	0	1626	609	21	4		4	C10orf76	10	103789339	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	2197450	103789339	31745408	128	57934											
GFRA1	2674	broad.mit.edu	37	chr10	118029071	118029071	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgctgttaactggttcaTatggggaatcctccagcaga	10	12	10	9	0	2	1	1	0	1	1	4	2	4	2	2	3	3	4	2	3	3	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:118029071T>A	ENST00000439649.3	-	4	729	c.362A>T	c.(361-363)tAt>tTt	p.Y121F	GFRA1_ENST00000355422.6_Missense_Mutation_p.Y121F|GFRA1_ENST00000369236.1_Missense_Mutation_p.Y121F	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	121					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AACTGGTTCATATGGGGAATC	0.403													8	49					0	0	0	0	A	118029071	T	A	118029071	3	1	326	1	0	0	0	0	1	0	0	0	6398	1406	49	5	1067	5	GFRA1	10	118029071	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	14239732	118029071	17505676	129	57935											
DOCK1	1793	broad.mit.edu	37	chr10	129183096	129183096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacctcacccagcgggacGggtaccaggccaccacgcag	9	2	11	19	3	1	0	1	0	0	0	1	1	1	1	6	3	2	2	6	3	1	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:129183096G>C	ENST00000280333.6	+	38	3896	c.3787G>C	c.(3787-3789)Ggg>Cgg	p.G1263R		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1263	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCAGCGGGACGGGTACCAGGC	0.562													13	71					0	0	0	0	C	129183096	G	C	129183096	3	2	326	1	0	0	0	0	1	0	0	0	4720	1116	39	3	3937	3	DOCK1	10	129183096	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	11154025	129183096	6351651	130	57936											
UBQLNL	143630	broad.mit.edu	37	chr11	5537198	5537198	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaagttttgggtatgcacTttgggtgcatcagaccccac	8	12	10	11	0	1	1	1	0	0	1	2	1	2	1	3	2	2	4	3	2	2	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:5537198T>A	ENST00000380184.1	-	1	737	c.474A>T	c.(472-474)aaA>aaT	p.K158N	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	158										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGGTATGCACTTTGGGTGCAT	0.507													28	49					0	0	0	0	A	5537198	T	A	5537198	3	1	326	1	0	0	0	0	1	0	0	0	16996	1606	56	5	957	5	UBQLNL	11	5537198	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08		5537198	129469318	131	57937											
OR52N4	390072	broad.mit.edu	37	chr11	5776293	5776293	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagatgttcttcacccacaCcttcacagggatggagtctg	9	10	9	13	0	4	1	2	0	2	1	4	3	4	3	3	2	0	1	3	2	0	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:5776293C>G	ENST00000317254.3	+	1	371	c.323C>G	c.(322-324)aCc>aGc	p.T108S	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTCACCCACACCTTCACAGGG	0.483													18	72					0	0	0	0	G	5776293	C	G	5776293	3	3	326	1	0	0	0	0	1	0	0	0	11200	507	18	4	325	4	OR52N4	11	5776293	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	239095	5776293	129230223	132	57938											
OR52N5	390075	broad.mit.edu	37	chr11	5799295	5799295	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagctttactacagacatGtggtcgcagtacgtatggga	11	11	12	7	2	0	1	0	0	0	1	1	3	0	2	0	2	4	4	0	2	5	6			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:5799295G>A	ENST00000317093.2	-	1	602	c.570C>T	c.(568-570)caC>caT	p.H190H	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CTACAGACATGTGGTCGCAGT	0.423													4	65					0	0	0	0	A	5799295	G	A	5799295	2	1	326	1	0	0	0	0	0	0	0	1	11201	1368	48	4		4	OR52N5	11	5799295	Silent	SNP	G	TCGA-CV-7440-01A-11D-2129-08	23002	5799295	129207221	133	57939											
ST5	6764	broad.mit.edu	37	chr11	8737365	8737365	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgttgggtttcagggaaaGctggcgtgggggagaggacg	7	8	21	5	2	1	1	1	0	0	1	1	4	1	3	0	6	1	4	0	6	1	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:8737365G>C	ENST00000534127.1	-	9	2015	c.1629_splice	c.e9-1	p.L544_splice	ST5_ENST00000313726.6_Splice_Site_p.L544_splice|ST5_ENST00000526099.1_Splice_Site_p.L57_splice|ST5_ENST00000530438.1_Splice_Site_p.L124_splice|ST5_ENST00000357665.1_Splice_Site_p.L544_splice|ST5_ENST00000530991.1_Splice_Site_p.L16_splice|ST5_ENST00000526757.1_Splice_Site_p.L124_splice	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	544					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTCAGGGAAAGCTGGCGTGGG	0.632													18	42					0	0	0	0	C	8737365	G	C	8737365	5	2	326	1	0	0	0	0	0	0	1	0	15310	985	34	4	1843	4	ST5	11	8737365	Splice_Site	SNP	G	TCGA-CV-7440-01A-11D-2129-08	2938070	8737365	126269151	134	57940											
IPO7	10527	broad.mit.edu	37	chr11	9459832	9459832	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagatgatgatgaaaccGgtaagggattttcaatggaa	15	10	12	4	1	1	5	1	4	0	1	1	7	1	7	1	3	1	1	1	3	5	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:9459832G>A	ENST00000379719.3	+	22	2837	c.2695_splice	c.e22+1	p.E899_splice		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	899	Asp-rich.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		tgatgaAACCGGTAAGGGATT	0.428													32	33					0	0	0	0	A	9459832	G	A	9459832	5	1	326	1	0	0	0	0	0	0	1	0	7850	1130	39	1	2781	1	IPO7	11	9459832	Splice_Site	SNP	G	TCGA-CV-7440-01A-11D-2129-08	722467	9459832	125546684	135	57941											
SLC6A5	9152	broad.mit.edu	37	chr11	20673889	20673889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacctatggctcttacCgctatcctaactggtccatg	8	12	7	14	1	1	1	0	1	1	0	3	1	3	1	5	2	2	2	5	2	4	4	rs151244472	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:20673889C>T	ENST00000525748.1	+	15	2398	c.2125C>T	c.(2125-2127)Cgc>Tgc	p.R709C	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	709					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGGCTCTTACCGCTATCCTAA	0.488													18	107					0	0	0	0	T	20673889	C	T	20673889	3	4	326	1	0	0	0	0	1	0	0	0	14775	652	23	1	2183	1	SLC6A5	11	20673889	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	11214057	20673889	114332627	136	57942											
DCDC1	341019	broad.mit.edu	37	chr11	31327197	31327197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggatttaaaaagggctctCccgttgaaacataaacatcg	15	10	8	8	2	1	1	0	1	1	0	3	2	1	2	1	2	2	2	1	2	6	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:31327197C>A	ENST00000597505.1	-	4	718	c.719G>T	c.(718-720)gGa>gTa	p.G240V	DCDC1_ENST00000452803.1_Missense_Mutation_p.G240V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	240	Doublecortin.				intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AAAGGGCTCTCCCGTTGAAAC	0.413													31	69					6.05902e-23	8.25956e-23	1	0	A	31327197	C	A	31327197	3	1	326	1	0	0	0	0	1	0	0	0	4316	855	30	2	361	2	DCDC1	11	31327197	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	10653308	31327197	103679319	137	57943											
OR5W2	390148	broad.mit.edu	37	chr11	55681277	55681277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaataggaagaacttggcCggaaatacataaagagcaga	19	5	12	5	1	0	4	0	0	0	4	0	7	0	6	1	3	3	1	1	3	8	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:55681277C>T	ENST00000344514.1	-	1	781	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAACTTGGCCGGAAATACAT	0.443													6	69					0	0	0	0	T	55681277	C	T	55681277	3	4	326	1	0	0	0	0	1	0	0	0	11256	652	23	1	152	1	OR5W2	11	55681277	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	24354080	55681277	79325239	138	57944											
OR5B3	441608	broad.mit.edu	37	chr11	58170004	58170004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatgcactcttcacttcCttgttcctcagactatagac	9	15	5	12	0	3	3	2	1	1	2	5	3	5	3	2	0	1	2	2	0	3	7			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:58170004C>G	ENST00000309403.2	-	1	878	c.879G>C	c.(877-879)aaG>aaC	p.K293N		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTTCACTTCCTTGTTCCTCA	0.438													6	94					0	0	0	0	G	58170004	C	G	58170004	3	3	326	1	0	0	0	0	1	0	0	0	11223	680	24	4	67	4	OR5B3	11	58170004	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	2488727	58170004	76836512	139	57945											
TMEM132A	54972	broad.mit.edu	37	chr11	60699222	60699222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagaatagcactggtgggGgcgtagcggtcactcgcccc	7	7	16	11	3	1	1	1	0	0	1	2	2	1	1	2	5	2	2	2	5	3	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:60699222G>T	ENST00000005286.4	+	6	1234	c.1081G>T	c.(1081-1083)Ggc>Tgc	p.G361C	TMEM132A_ENST00000453848.2_Missense_Mutation_p.G360C	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	360						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CACTGGTGGGGGCGTAGCGGT	0.567													27	131					1.68575e-08	1.93262e-08	1	0	T	60699222	G	T	60699222	3	4	326	1	0	0	0	0	1	0	0	0	16139	1232	43	4	1103	4	TMEM132A	11	60699222	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	2529218	60699222	74307294	140	57946											
AHNAK	79026	broad.mit.edu	37	chr11	62289123	62289123	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcaggcatggagatctTgggggctttgatgttcatct	9	13	13	6	0	4	2	2	1	2	1	4	3	4	2	0	4	0	3	0	4	1	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:62289123T>C	ENST00000378024.4	-	5	13040	c.12766A>G	c.(12766-12768)Aag>Gag	p.K4256E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4256					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGGAGATCTTGGGGGCTTTG	0.478													61	327					0	0	0	0	C	62289123	T	C	62289123	3	2	326	1	0	0	0	0	1	0	0	0	414	1821	63	5	5026	5	AHNAK	11	62289123	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	1589901	62289123	72717393	141	57947											
IGHMBP2	3508	broad.mit.edu	37	chr11	68675796	68675796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgatgtcacttacaggcGactgaaaaagtaagtggatg	15	9	11	6	1	1	2	1	2	0	0	1	4	1	3	0	2	1	1	0	2	5	2	rs138448914	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:68675796G>A	ENST00000255078.3	+	3	551	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	IGHMBP2_ENST00000539224.1_Missense_Mutation_p.R147Q	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	147					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACTTACAGGCGACTGAAAAAG	0.453													44	57					0	0	0	0	A	68675796	G	A	68675796	3	1	326	1	0	0	0	0	1	0	0	0	7644	1058	37	1	450	1	IGHMBP2	11	68675796	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	6386673	68675796	66330720	142	57948											
PAAF1	80227	broad.mit.edu	37	chr11	73620473	73620473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atacagccatcgttgatcggGggaggaatgtggtgtctgct	8	11	15	7	2	1	1	0	1	1	0	3	3	1	3	1	4	3	2	1	4	2	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:73620473G>A	ENST00000544909.1	+	5	822	c.565G>A	c.(565-567)Ggg>Agg	p.G189R	PAAF1_ENST00000535604.1_Missense_Mutation_p.G73R|PAAF1_ENST00000541951.1_Missense_Mutation_p.G73R|PAAF1_ENST00000544552.1_Missense_Mutation_p.G171R|PAAF1_ENST00000310571.3_Missense_Mutation_p.G188R|PAAF1_ENST00000536003.1_Missense_Mutation_p.G171R|PAAF1_ENST00000376384.5_Missense_Mutation_p.G171R			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	188					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					CGTTGATCGGGGGAGGAATGT	0.507													12	85					0	0	0	0	A	73620473	G	A	73620473	3	1	326	1	0	0	0	0	1	0	0	0	11433	1232	43	4	588	4	PAAF1	11	73620473	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	4944677	73620473	61386043	143	57949											
MMP13	4322	broad.mit.edu	37	chr11	102825316	102825316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttcagaatgagtcatatCaggggtgtaattcacaattc	13	12	9	7	0	4	2	4	1	0	1	5	3	4	2	0	2	0	1	0	2	4	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:102825316C>G	ENST00000260302.3	-	3	410	c.382G>C	c.(382-384)Gat>Cat	p.D128H	MMP13_ENST00000340273.4_Missense_Mutation_p.D128H	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	128					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TGAGTCATATCAGGGGTGTAA	0.348													12	79					0	0	0	0	G	102825316	C	G	102825316	3	3	326	1	0	0	0	0	1	0	0	0	9721	826	29	2	1065	2	MMP13	11	102825316	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	29204843	102825316	32181200	144	57950											
C11orf52	91894	broad.mit.edu	37	chr11	111796827	111796827	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccccatgcccgggaagtGaaacacgtgcatttagaaaa	13	7	10	11	3	0	2	0	1	0	1	1	3	1	3	3	1	3	1	3	1	5	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:111796827G>T	ENST00000278601.5	+	4	372	c.276G>T	c.(274-276)gtG>gtT	p.V92V	C11orf52_ENST00000527286.1_3'UTR|HSPB2-C11orf52_ENST00000534100.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	92										lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		CCCGGGAAGTGAAACACGTGC	0.552													7	49					8.12818e-05	8.56586e-05	1	0	T	111796827	G	T	111796827	2	4	326	1	0	0	0	0	0	0	0	1	1658	1277	45	2		2	C11orf52	11	111796827	Silent	SNP	G	TCGA-CV-7440-01A-11D-2129-08	8971511	111796827	23209689	145	57951											
NCAM1	4684	broad.mit.edu	37	chr11	113105876	113105876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggcctccgagttcaagacGcagccagtccgtaagtaaag	11	6	12	12	4	1	1	1	0	0	1	3	2	3	1	4	1	1	4	4	1	4	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:113105876G>A	ENST00000316851.7	+	13	1785	c.1785G>A	c.(1783-1785)acG>acA	p.T595T	NCAM1_ENST00000533760.1_Silent_p.T477T|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.T604T	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	605	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGTTCAAGACGCAGCCAGTCC	0.622													5	17					0	0	0	0	A	113105876	G	A	113105876	2	1	326	1	0	0	0	0	0	0	0	1	10272	1074	38	1		1	NCAM1	11	113105876	Silent	SNP	G	TCGA-CV-7440-01A-11D-2129-08	1309049	113105876	21900640	146	57952											
TECTA	7007	broad.mit.edu	37	chr11	120984288	120984288	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatggtggaaacctcacCaatttcttcagcctcccggg	9	12	8	12	1	3	0	2	0	1	0	4	1	4	1	4	3	2	0	4	3	3	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:120984288C>T	ENST00000392793.1	+	6	922	c.651C>T	c.(649-651)acC>acT	p.T217T	TECTA_ENST00000264037.2_Silent_p.T217T			O75443	TECTA_HUMAN	tectorin alpha	217	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAAACCTCACCAATTTCTTCA	0.468													10	53					0	0	0	0	T	120984288	C	T	120984288	2	4	326	1	0	0	0	0	0	0	0	1	15841	581	21	4		4	TECTA	11	120984288	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08	7878412	120984288	14022228	147	57953											
ITPR2	3709	broad.mit.edu	37	chr12	26818845	26818845	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatgaaaaaattcacctGtgccagtatgttttgttccc	11	14	7	9	0	1	1	1	1	0	0	2	1	2	1	3	0	2	4	3	0	5	6			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:26818845G>A	ENST00000381340.3	-	14	1965	c.1549C>T	c.(1549-1551)Cag>Tag	p.Q517*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	517					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AAATTCACCTGTGCCAGTATG	0.343													21	50					0	0	0	0	A	26818845	G	A	26818845	4	1	326	1	0	0	0	0	0	1	0	0	7974	1386	48	4	6732	4	ITPR2	12	26818845	Nonsense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08		26818845	107033050	148	57954											
C12orf40	283461	broad.mit.edu	37	chr12	40076610	40076610	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctaaccttctatcagagaAttgtgactcttttgttagtc	9	17	6	9	0	3	2	1	1	2	1	5	3	4	2	2	0	1	1	2	0	4	7			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:40076610A>C	ENST00000324616.5	+	8	1038	c.884A>C	c.(883-885)aAt>aCt	p.N295T	C12orf40_ENST00000398716.1_Missense_Mutation_p.N218T|C12orf40_ENST00000405531.3_Missense_Mutation_p.N295T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	295										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTATCAGAGAATTGTGACTCT	0.318													34	81					0	0	0	0	C	40076610	A	C	40076610	3	2	326	1	0	0	0	0	1	0	0	0	1698	101	4	5	914	5	C12orf40	12	40076610	Missense_Mutation	SNP	A	TCGA-CV-7440-01A-11D-2129-08	13257765	40076610	93775285	149	57955											
ESPL1	9700	broad.mit.edu	37	chr12	53676136	53676136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtacttgctgcgtgtccAggtcctgcagctggtggcag	4	12	15	10	1	0	0	0	0	0	0	2	0	2	0	2	4	5	5	2	4	1	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:53676136A>T	ENST00000257934.4	+	14	2799	c.2708A>T	c.(2707-2709)cAg>cTg	p.Q903L	ESPL1_ENST00000552462.1_Missense_Mutation_p.Q903L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	903					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGCGTGTCCAGGTCCTGCAG	0.577													43	90					0	0	0	0	T	53676136	A	T	53676136	3	4	326	1	0	0	0	0	1	0	0	0	5291	188	7	5	2758	5	ESPL1	12	53676136	Missense_Mutation	SNP	A	TCGA-CV-7440-01A-11D-2129-08	13599526	53676136	80175759	150	57956											
OR10A7	121364	broad.mit.edu	37	chr12	55615024	55615024	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtcacttcttgaagtatgTttcaccttggttatggtgcc	6	17	9	9	0	3	1	2	1	1	0	3	1	3	1	2	2	1	3	2	2	3	6			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:55615024T>C	ENST00000326258.1	+	1	216	c.216T>C	c.(214-216)tgT>tgC	p.C72C		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TTGAAGTATGTTTCACCTTGG	0.408													50	171					0	0	0	0	C	55615024	T	C	55615024	2	2	326	1	0	0	0	0	0	0	0	1	10966	1731	60	5		5	OR10A7	12	55615024	Silent	SNP	T	TCGA-CV-7440-01A-11D-2129-08	1938888	55615024	78236871	151	57957											
ERBB3	2065	broad.mit.edu	37	chr12	56490314	56490319	+	In_Frame_Del	DEL	AAGGCT	AAGGCT	-																															agcctctggaccccagtgagAaggctaacaaagtcttggcc																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:56490314_56490319delAAGGCT	ENST00000267101.3	+	18	2523_2528	c.2083_2088delAAGGCT	c.(2083-2088)del	p.KA695del	ERBB3_ENST00000450146.2_In_Frame_Del_p.KA52del|ERBB3_ENST00000553131.1_5'UTR|ERBB3_ENST00000415288.2_In_Frame_Del_p.KA636del	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	695					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCCCAGTGAGAAGGCTAACAAAGTCT	0.51													48	163	---	---	---	---					-	56490319	AAGGCT	-	56490314	7	5	326	1	0	1	0	1	0	0	0	0	5246	247	9	0	2284	0	ERBB3	12	56490314	In_Frame_Del	DEL	AAGGCT	TCGA-CV-7440-01A-11D-2129-08	875290	56490314	77361581	152	57958											
PTPRB	5787	broad.mit.edu	37	chr12	70954538	70954538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccttccaggaacaaggcCttgaaaccgccactccgtca	10	8	7	16	2	1	1	1	1	0	0	4	2	4	2	6	2	2	0	6	2	3	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:70954538C>T	ENST00000334414.6	-	17	4389	c.4345G>A	c.(4345-4347)Ggc>Agc	p.G1449S	PTPRB_ENST00000261266.5_Missense_Mutation_p.G1231S|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1448S|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1141S|PTPRB_ENST00000550358.1_Missense_Mutation_p.G1361S|PTPRB_ENST00000538708.1_Missense_Mutation_p.G1141S|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1141S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1231	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGAACAAGGCCTTGAAACCGC	0.493													15	47					0	0	0	0	T	70954538	C	T	70954538	3	4	326	1	0	0	0	0	1	0	0	0	12878	681	24	4	2374	4	PTPRB	12	70954538	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	14464224	70954538	62897357	153	57959											
LIN7A	8825	broad.mit.edu	37	chr12	81331469	81331469	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatgtcgccatgtctgcCgtgggagccgaagtgacgct	7	9	14	11	4	2	1	1	1	1	0	3	3	2	2	3	1	2	1	3	1	2	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:81331469C>A	ENST00000552864.1	-	1	235	c.33G>T	c.(31-33)acG>acT	p.T11T		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	11					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CCATGTCTGCCGTGGGAGCCG	0.637													6	13					0.00198382	0.00203583	1	0	A	81331469	C	A	81331469	2	1	326	1	0	0	0	0	0	0	0	1	8865	639	23	3		3	LIN7A	12	81331469	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08	10376931	81331469	52520426	154	57960											
EEA1	8411	broad.mit.edu	37	chr12	93221688	93221688	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgaaaatgctagcttacCtgctcttctaaccgagaaag	14	11	7	9	1	2	2	0	1	2	1	2	3	2	2	2	0	5	3	2	0	7	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:93221688C>A	ENST00000322349.8	-	12	1668	c.1404_splice	c.e12+1	p.Q468_splice		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	468	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCTAGCTTACCTGCTCTTCTA	0.348													43	129					1.00953e-15	1.3172e-15	1	0	A	93221688	C	A	93221688	5	1	326	1	0	0	0	0	0	0	1	0	4957	695	24	4	2903	4	EEA1	12	93221688	Splice_Site	SNP	C	TCGA-CV-7440-01A-11D-2129-08	11890219	93221688	40630207	155	57961											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100441774	100441774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcattggcattactgttgCaacagtttcatcttccaaaa	11	15	5	10	0	3	0	2	0	1	0	4	0	4	0	1	1	3	4	1	1	4	6			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:100441774C>A	ENST00000279907.7	-	18	4131	c.3919G>T	c.(3919-3921)Gca>Tca	p.A1307S	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A957S	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1307										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATTACTGTTGCAACAGTTTCA	0.279													11	15					1.58986e-06	1.74949e-06	1	0	A	100441774	C	A	100441774	3	1	326	1	0	0	0	0	1	0	0	0	17065	710	25	4	491	4	UHRF1BP1L	12	100441774	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	7220086	100441774	33410121	156	57962											
TDG	6996	broad.mit.edu	37	chr12	104373699	104373699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttgagtcaaaaaaatctgGcaagtctgcaaaatcaaaag	18	9	8	6	0	4	1	2	1	2	0	4	1	4	1	0	1	1	3	0	1	8	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:104373699G>T	ENST00000392872.3	+	3	491	c.257G>T	c.(256-258)gGc>gTc	p.G86V	TDG_ENST00000266775.9_Missense_Mutation_p.G82V|TDG_ENST00000544861.1_5'UTR	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	86					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAAAATCTGGCAAGTCTGCA	0.338								Base excision repair (BER), DNA glycosylases					14	79					1.52009e-12	1.91938e-12	1	0	T	104373699	G	T	104373699	3	4	326	1	0	0	0	0	1	0	0	0	15819	1203	42	4	267	4	TDG	12	104373699	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	3931925	104373699	29478196	157	57963											
TCTN1	79600	broad.mit.edu	37	chr12	111078896	111078896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatctctcattcgttctggGgacagttagcagcgtagtgg	7	13	13	8	2	3	1	1	1	2	0	5	2	3	2	0	3	2	4	0	3	2	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:111078896G>T	ENST00000551590.1	+	9	1202	c.1046G>T	c.(1045-1047)gGg>gTg	p.G349V	HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Missense_Mutation_p.G335V|TCTN1_ENST00000377654.3_Missense_Mutation_p.G171V|TCTN1_ENST00000397659.4_Missense_Mutation_p.G349V			Q2MV58	TECT1_HUMAN	tectonic family member 1	349					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TTCGTTCTGGGGACAGTTAGC	0.393													47	101					2.52991e-16	3.33267e-16	1	0	T	111078896	G	T	111078896	3	4	326	1	0	0	0	0	1	0	0	0	15816	1232	43	4	1252	4	TCTN1	12	111078896	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	6705197	111078896	22772999	158	57964											
MAP1LC3B2	643246	broad.mit.edu	37	chr12	117013751	117013751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccagatccccacaccatgCcgtcggagaagaccttcaag	11	5	9	16	2	1	3	1	0	0	3	3	4	2	3	6	1	1	0	6	1	2	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:117013751C>T	ENST00000306985.4	+	2	158	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.P2S	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	2					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						CCACACCATGCCGTCGGAGAA	0.627													33	29					0	0	0	0	T	117013751	C	T	117013751	3	4	326	1	0	0	0	0	1	0	0	0	9301	739	26	4	6	4	MAP1LC3B2	12	117013751	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	5934855	117013751	16838144	159	57965											
PDX1	3651	broad.mit.edu	37	chr13	28498541	28498541	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggctgtcatgttgaacttGaccgagagacacatcaagat	12	10	10	9	1	2	4	2	2	0	2	2	6	2	4	1	1	1	2	1	1	2	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:28498541G>C	ENST00000381033.4	+	2	674	c.555G>C	c.(553-555)ttG>ttC	p.L185F		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	185					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		TGTTGAACTTGACCGAGAGAC	0.587													5	71					0	0	0	0	C	28498541	G	C	28498541	3	2	326	1	0	0	0	0	1	0	0	0	11766	1281	45	2	561	2	PDX1	13	28498541	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08		28498541	86671337	160	57966											
LHFP	10186	broad.mit.edu	37	chr13	39952615	39952615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtctgccggacttcctcaCtgtcccagcccaaggggtag	8	8	11	14	1	2	0	1	0	1	0	4	1	4	1	4	3	2	1	4	3	3	2	rs142526688	by1000genomes	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:39952615C>T	ENST00000379589.3	-	3	896	c.434G>A	c.(433-435)aGt>aAt	p.S145N		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	145						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		GACTTCCTCACTGTCCCAGCC	0.502			T	HMGA2	lipoma								10	47					0	0	0	0	T	39952615	C	T	39952615	3	4	326	1	0	0	0	0	1	0	0	0	8817	565	20	4	176	4	LHFP	13	39952615	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	11454074	39952615	75217263	161	57967											
FAM155A	728215	broad.mit.edu	37	chr13	108518775	108518775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggcctcggcgcagaacCacaagtgatcagagagcagg	11	5	14	11	2	1	3	1	1	0	2	2	4	1	3	2	3	2	3	2	3	2	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:108518775C>A	ENST00000375915.2	-	1	308	c.170G>T	c.(169-171)tGg>tTg	p.W57L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	57						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCGCAGAACCACAAGTGATC	0.602													75	74					1.23106e-19	1.66162e-19	1	0	A	108518775	C	A	108518775	3	1	326	1	0	0	0	0	1	0	0	0	5506	595	21	4	1218	4	FAM155A	13	108518775	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	68566160	108518775	6651103	162	57968											
COL4A1	1282	broad.mit.edu	37	chr13	110833680	110833680	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcccaggtaagccattaaAtcccgggcgacctggagtcc	9	8	11	13	2	0	0	0	0	0	0	3	2	3	1	5	3	1	2	5	3	3	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:110833680A>G	ENST00000375820.4	-	29	2273	c.2152T>C	c.(2152-2154)Ttt>Ctt	p.F718L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	718	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGCCATTAAATCCCGGGCGA	0.502													7	45					0	0	0	0	G	110833680	A	G	110833680	3	3	326	1	0	0	0	0	1	0	0	0	3719	101	4	5	2953	5	COL4A1	13	110833680	Missense_Mutation	SNP	A	TCGA-CV-7440-01A-11D-2129-08	2314905	110833680	4336198	163	57969											
OR4N2	390429	broad.mit.edu	37	chr14	20296501	20296501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagtgaaagcttccatGaaaaaggtgtttaataagca	17	9	10	5	0	0	2	0	2	0	0	1	3	1	3	1	2	2	3	1	2	6	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:20296501G>T	ENST00000315947.1	+	1	894	c.894G>T	c.(892-894)atG>atT	p.M298I	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	298					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)		AAGCTTCCATGAAAAAGGTGT	0.353													14	28					1.5842e-08	1.83152e-08	1	0	T	20296501	G	T	20296501	3	4	326	1	0	0	0	0	1	0	0	0	11148	1290	45	2	896	2	OR4N2	14	20296501	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08		20296501	87053039	164	57970											
ADCY4	196883	broad.mit.edu	37	chr14	24788954	24788954	+	Frame_Shift_Del	DEL	A	A	-																															cttggaattttcacctcatcAaaatcagcaattatctcatt																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:24788954delA	ENST00000310677.4	-	22	2840	c.2727delT	c.(2725-2727)ttfs	p.F909fs	ADCY4_ENST00000554068.2_Frame_Shift_Del_p.F909fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.F909fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	909					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCACCTCATCAAAATCAGCAA	0.453													27	52	---	---	---	---					-	24788954	A	-	24788954	7	5	326	1	0	1	0	1	0	0	0	0	296	127	5	0	526	0	ADCY4	14	24788954	Frame_Shift_Del	DEL	A	TCGA-CV-7440-01A-11D-2129-08	4492453	24788954	82560586	165	57971											
LRFN5	145581	broad.mit.edu	37	chr14	42361015	42361015	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaaagaaagactggcacaAagccaagtacagaaccacag	21	2	9	9	0	0	4	0	0	0	4	0	4	0	4	2	1	3	2	2	1	7	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:42361015A>G	ENST00000298119.4	+	4	3137	c.1948A>G	c.(1948-1950)Aag>Gag	p.K650E	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	650						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GACTGGCACAAAGCCAAGTAC	0.478										HNSCC(30;0.082)			12	26					0	0	0	0	G	42361015	A	G	42361015	3	3	326	1	0	0	0	0	1	0	0	0	9005	15	1	5	1954	5	LRFN5	14	42361015	Missense_Mutation	SNP	A	TCGA-CV-7440-01A-11D-2129-08	17572061	42361015	64988525	166	57972											
TMX1	81542	broad.mit.edu	37	chr14	51713848	51713858	+	Frame_Shift_Del	DEL	GGACTAAGAAG	GGACTAAGAAG	-																															taggcgctatcagggtccaaGgactaagaaggacttcataa																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:51713848_51713858delGGACTAAGAAG	ENST00000457354.2	+	4	478_488	c.353_363delGGACTAAGAAG	c.(352-363)afs	p.RTKK118fs		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	118	Thioredoxin.				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						CAGGGTCCAAGGACTAAGAAGGACTTCATAA	0.351													8	95	---	---	---	---					-	51713858	GGACTAAGAAG	-	51713848	7	5	326	1	0	1	0	1	0	0	0	0	16360	1000	35	0	367	0	TMX1	14	51713848	Frame_Shift_Del	DEL	GGACTAAGAAG	TCGA-CV-7440-01A-11D-2129-08	9352833	51713848	55635692	167	57973											
DACT1	51339	broad.mit.edu	37	chr14	59112625	59112625	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaaaggccgaacaagcCgaaagcaagagggtgcccct	15	3	12	11	2	1	1	1	0	0	1	1	4	1	1	4	2	4	1	4	2	6	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:59112625C>A	ENST00000395153.3	+	4	1320	c.1173C>A	c.(1171-1173)gcC>gcA	p.A391A	DACT1_ENST00000556859.1_Silent_p.A147A|DACT1_ENST00000541264.2_Silent_p.A147A|DACT1_ENST00000335867.4_Silent_p.A428A|DACT1_ENST00000395151.3_Silent_p.A147A	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	428					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.A428A(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCGAACAAGCCGAAAGCAAGA	0.597													7	46					5.18039e-06	5.5883e-06	1	0	A	59112625	C	A	59112625	2	1	326	1	0	0	0	0	0	0	0	1	4255	639	23	3		3	DACT1	14	59112625	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08	7398777	59112625	48236915	168	57974											
JDP2	122953	broad.mit.edu	37	chr14	75936093	75936093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgctgaaccgacaccGccccacctgcatcgtccgga	8	6	9	18	4	0	2	0	2	0	0	2	4	1	3	7	1	3	2	7	1	1	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:75936093G>A	ENST00000435893.2	+	4	680	c.407G>A	c.(406-408)cGc>cAc	p.R136H	JDP2_ENST00000267569.5_Missense_Mutation_p.R147H|JDP2_ENST00000437176.1_Missense_Mutation_p.R136H|JDP2_ENST00000419727.2_Missense_Mutation_p.R136H	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	136						nucleus	sequence-specific DNA binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)		AACCGACACCGCCCCACCTGC	0.607													17	40					0	0	0	0	A	75936093	G	A	75936093	3	1	326	1	0	0	0	0	1	0	0	0	8000	1087	38	1	454	1	JDP2	14	75936093	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	16823468	75936093	31413447	169	57975											
SNRPN	6638	broad.mit.edu	37	chr15	25221556	25221556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactgtggaggggccaccccCcaaagatgtaaggaagatgt	12	6	14	9	0	0	2	0	0	0	2	0	5	0	4	4	4	0	1	4	4	3	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:25221556C>T	ENST00000444203.2	+	4	1311	c.272C>T	c.(271-273)cCc>cTc	p.P91L	SNRPN_ENST00000554227.2_Missense_Mutation_p.P91L|SNRPN_ENST00000346403.6_Missense_Mutation_p.P87L|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400100.1_Missense_Mutation_p.P87L|SNRPN_ENST00000400097.1_Missense_Mutation_p.P87L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P87L|SNRPN_ENST00000390687.4_Missense_Mutation_p.P87L|SNRPN_ENST00000400098.1_Missense_Mutation_p.P87L			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	87					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGCCACCCCCCAAAGATGTA	0.488									Prader-Willi syndrome				12	51					0	0	0	0	T	25221556	C	T	25221556	3	4	326	1	0	0	0	0	1	0	0	0	14958	623	22	4	270	4	SNRPN	15	25221556	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08		25221556	77309836	170	57976											
WDR72	256764	broad.mit.edu	37	chr15	54003099	54003099	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagtaaatgaggataaatGgtctctttaagcactcttcc	13	12	7	9	0	2	1	0	1	2	0	4	2	3	2	1	2	1	2	1	2	5	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:54003099G>T	ENST00000396328.1	-	9	1148	c.909C>A	c.(907-909)acC>acA	p.T303T	WDR72_ENST00000360509.5_Silent_p.T303T|WDR72_ENST00000557913.1_Silent_p.T302T|WDR72_ENST00000559418.1_Silent_p.T315T	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	303										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GAGGATAAATGGTCTCTTTAA	0.383													9	49					3.07112e-06	3.33923e-06	1	0	T	54003099	G	T	54003099	2	4	326	1	0	0	0	0	0	0	0	1	17418	1335	47	4		4	WDR72	15	54003099	Silent	SNP	G	TCGA-CV-7440-01A-11D-2129-08	28781543	54003099	48528293	171	57977											
CILP	8483	broad.mit.edu	37	chr15	65490300	65490300	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaggttaatcacggagAtcacaaccccctggatctgc	10	8	9	14	1	3	1	2	0	1	1	4	3	4	2	3	3	2	2	3	3	2	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:65490300A>G	ENST00000261883.4	-	9	2490	c.2324T>C	c.(2323-2325)aTc>aCc	p.I775T		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	775					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AATCACGGAGATCACAACCCC	0.562													54	87					0	0	0	0	G	65490300	A	G	65490300	3	3	326	1	0	0	0	0	1	0	0	0	3458	333	12	5	1234	5	CILP	15	65490300	Missense_Mutation	SNP	A	TCGA-CV-7440-01A-11D-2129-08	11487201	65490300	37041092	172	57978											
DENND4A	10260	broad.mit.edu	37	chr15	65959832	65959832	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaaagaatcaatccaggTaagttactgggcaagtcaag	17	7	11	6	0	2	2	2	0	0	2	3	3	3	2	1	2	1	3	1	2	8	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:65959832T>C	ENST00000443035.3	-	29	5408	c.5193A>G	c.(5191-5193)ttA>ttG	p.L1731L	DENND4A_ENST00000431932.2_Silent_p.L1688L	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TCAATCCAGGTAAGTTACTGG	0.368													9	47					0	0	0	0	C	65959832	T	C	65959832	2	2	326	1	0	0	0	0	0	0	0	1	4470	1635	57	5		5	DENND4A	15	65959832	Silent	SNP	T	TCGA-CV-7440-01A-11D-2129-08	469532	65959832	36571560	173	57979											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84581990	84581990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaggccccaagctgcccaCcgaacggccctgcctcctgg	7	5	11	18	2	0	1	0	1	0	0	1	2	1	1	7	3	4	1	7	3	3	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:84581990C>A	ENST00000286744.5	+	16	2071	c.1847C>A	c.(1846-1848)aCc>aAc	p.T616N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T616N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	616	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGCTGCCCACCGAACGGCCC	0.617													10	38					7.48243e-07	8.26688e-07	1	0	A	84581990	C	A	84581990	3	1	326	1	0	0	0	0	1	0	0	0	276	507	18	4	1905	4	ADAMTSL3	15	84581990	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	18622158	84581990	17949402	174	57980											
ACAN	176	broad.mit.edu	37	chr15	89398229	89398229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccatccccctcagaggaaCcattcccctcagtgaggcca	10	6	8	17	0	2	2	2	1	0	1	4	3	4	3	7	2	2	0	7	2	1	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:89398229C>A	ENST00000439576.2	+	12	2787	c.2413C>A	c.(2413-2415)Cca>Aca	p.P805T	ACAN_ENST00000559004.1_Missense_Mutation_p.P805T|ACAN_ENST00000352105.7_Missense_Mutation_p.P805T|ACAN_ENST00000561243.1_Missense_Mutation_p.P805T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	805					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCAGAGGAACCATTCCCCTC	0.602													7	8					0.000157383	0.000165222	1	0	A	89398229	C	A	89398229	3	1	326	1	0	0	0	0	1	0	0	0	117	507	18	4	2455	4	ACAN	15	89398229	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	4816239	89398229	13133163	175	57981											
CRTC3	64784	broad.mit.edu	37	chr15	91083350	91083350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtgagccagctgcggaGcagtgcgtcagagtttcagg	10	8	15	8	2	2	2	2	1	0	1	2	3	2	3	1	2	5	3	1	2	1	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:91083350G>A	ENST00000420329.2	+	2	359	c.212G>A	c.(211-213)aGc>aAc	p.S71N	CRTC3_ENST00000268184.6_Missense_Mutation_p.S71N|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000560098.1_Missense_Mutation_p.S71N	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	71	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CAGCTGCGGAGCAGTGCGTCA	0.413			T	MAML2	salivary gland mucoepidermoid								29	40					0	0	0	0	A	91083350	G	A	91083350	3	1	326	1	0	0	0	0	1	0	0	0	3931	971	34	4	218	4	CRTC3	15	91083350	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	1685121	91083350	11448042	176	57982											
WDR90	197335	broad.mit.edu	37	chr16	701826	701826	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcacttgtcccccagcaGtccggccgggccgccttggc	3	7	14	17	3	0	0	0	0	0	0	2	0	2	0	6	4	1	2	6	4	0	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:701826G>T	ENST00000549091.1	+	9	932		c.e9-1		WDR90_ENST00000293879.4_Splice_Site	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90											endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TCCCCCAGCAGTCCGGCCGGG	0.687													20	49					7.41877e-09	8.68694e-09	1	0	T	701826	G	T	701826	5	4	326	1	0	0	0	0	0	0	1	0	17433	1043	36	4	874	4	WDR90	16	701826	Splice_Site	SNP	G	TCGA-CV-7440-01A-11D-2129-08		701826	89652927	177	57983											
NLRC3	197358	broad.mit.edu	37	chr16	3602217	3602217	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagctctttcagactcctgTtctgcttcaagggcatctgc	6	14	9	12	0	5	2	2	1	3	1	6	2	6	2	1	1	3	4	1	1	1	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:3602217T>C	ENST00000301749.7	-	0	2735				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGACTCCTGTTCTGCTTCAA	0.532													35	46					0	0	0	0	C	3602217	T	C	3602217	1	2	326	0	1	0	0	0	0	0	0	0	10538	1722	60	5		5	NLRC3	16	3602217	RNA	SNP	T	TCGA-CV-7440-01A-11D-2129-08	2900391	3602217	86752536	178	57984											
SBK1	388228	broad.mit.edu	37	chr16	28331653	28331653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgcgccgacgggctggCggtggacacgggcgtggacg	4	3	22	12	8	0	0	0	0	0	0	0	3	0	2	2	7	0	1	2	7	0	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:28331653C>T	ENST00000341901.4	+	4	1475	c.686C>T	c.(685-687)gCg>gTg	p.A229V		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	229	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GACGGGCTGGCGGTGGACACG	0.736													8	19					0	0	0	0	T	28331653	C	T	28331653	3	4	326	1	0	0	0	0	1	0	0	0	13946	768	27	1	696	1	SBK1	16	28331653	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	24729436	28331653	62023100	179	57985											
SLC9A5	6553	broad.mit.edu	37	chr16	67289038	67289043	+	In_Frame_Del	DEL	TCTTTA	TCTTTA	-																															ggtgcacgtcaatgagactcTctttatcatcgtctttggcg																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:67289038_67289043delTCTTTA	ENST00000299798.11	+	3	670_675	c.605_610delTCTTTA	c.(604-612)ctc>c	p.LFI202del	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	202				L -> V (in Ref. 4; AAA87678).	regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AATGAGACTCTCTTTATCATCGTCTT	0.583													7	95	---	---	---	---					-	67289043	TCTTTA	-	67289038	7	5	326	1	0	1	0	1	0	0	0	0	14805	1551	54	0	615	0	SLC9A5	16	67289038	In_Frame_Del	DEL	TCTTTA	TCGA-CV-7440-01A-11D-2129-08	38957385	67289038	23065715	180	57986											
MYH4	4622	broad.mit.edu	37	chr17	10362566	10362566	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctagaaaagtcatatgaAccttctcgatgagctcgatg	14	10	9	8	2	2	3	1	2	1	1	4	5	2	3	1	0	3	2	1	0	6	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:10362566A>T	ENST00000255381.2	-	15	1698		c.e15+1		CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGTCATATGAACCTTCTCGAT	0.473													15	51					0	0	0	0	T	10362566	A	T	10362566	5	4	326	1	0	0	0	0	0	0	1	0	10107	57	2	5	4334	5	MYH4	17	10362566	Splice_Site	SNP	A	TCGA-CV-7440-01A-11D-2129-08		10362566	70832644	181	57987											
MYOCD	93649	broad.mit.edu	37	chr17	12661501	12661501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caatttcagaggtaacacagCctccatcctatgaagatgcc	13	9	7	12	0	1	3	1	1	0	2	3	3	3	3	4	1	3	1	4	1	4	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:12661501C>T	ENST00000425538.1	+	12	2502	c.2302C>T	c.(2302-2304)Cct>Tct	p.P768S	MYOCD_ENST00000343344.4_Missense_Mutation_p.P720S|MYOCD_ENST00000395988.1_Missense_Mutation_p.P672S	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	720					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGTAACACAGCCTCCATCCTA	0.393													11	49					0	0	0	0	T	12661501	C	T	12661501	3	4	326	1	0	0	0	0	1	0	0	0	10157	739	26	4	2348	4	MYOCD	17	12661501	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	2298935	12661501	68533709	182	57988											
MYO19	80179	broad.mit.edu	37	chr17	34852240	34852241	+	Frame_Shift_Del	DEL	TT	TT	-																															gagactttctgcagtgaaacTttatcgatccctagagggga																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:34852240_34852241delTT	ENST00000431794.3	-	26	3289_3290	c.2767_2768delAA	c.(2767-2769)gfs	p.K923fs	ZNHIT3_ENST00000588253.1_Intron|MYO19_ENST00000268852.9_Frame_Shift_Del_p.K723fs|ZNHIT3_ENST00000592616.1_Intron|ZNHIT3_ENST00000590858.1_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	923	Mitochondrial targeting.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCAGTGAAACTTTATCGATCCC	0.495													10	44	---	---	---	---					-	34852241	TT	-	34852240	7	5	326	1	0	1	0	1	0	0	0	0	10137	1609	56	0	148	0	MYO19	17	34852240	Frame_Shift_Del	DEL	TT	TCGA-CV-7440-01A-11D-2129-08	22190739	34852240	46342970	183	57989											
KRT34	3885	broad.mit.edu	37	chr17	39538432	39538432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagccgtggcagctgggggGcacgcagggccgggaggagc	6	3	22	10	3	0	0	0	0	0	0	0	2	0	2	2	7	3	5	2	7	1	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:39538432G>T	ENST00000394001.1	-	1	223	c.193C>A	c.(193-195)Ccc>Acc	p.P65T		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	65	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CAGCTGGGGGGCACGCAGGGC	0.622													19	72					1.01871e-10	1.25169e-10	1	0	T	39538432	G	T	39538432	3	4	326	1	0	0	0	0	1	0	0	0	8523	1203	42	4	1145	4	KRT34	17	39538432	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	4686192	39538432	41656778	184	57990											
DHX8	1659	broad.mit.edu	37	chr17	41570954	41570954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaagaccagcctgagcatGaaggtaggtgagatggtcag	13	6	14	8	0	1	4	1	3	0	2	1	5	1	4	3	3	2	2	3	3	3	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:41570954G>A	ENST00000262415.3	+	7	1077	c.1005G>A	c.(1003-1005)atG>atA	p.M335I	DHX8_ENST00000540306.1_Missense_Mutation_p.M335I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	335	S1 motif.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GCCTGAGCATGAAGGTAGGTG	0.527													15	70					0	0	0	0	A	41570954	G	A	41570954	3	1	326	1	0	0	0	0	1	0	0	0	4552	1290	45	2	1031	2	DHX8	17	41570954	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	2032522	41570954	39624256	185	57991											
KIF2B	84643	broad.mit.edu	37	chr17	51900732	51900732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggaccagcgtaccgccaCgaaatgggttgcgatgatcc	10	6	13	12	4	0	1	0	1	0	0	1	4	1	2	4	2	3	2	4	2	2	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:51900732C>T	ENST00000268919.4	+	1	494	c.338C>T	c.(337-339)aCg>aTg	p.T113M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	113					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.T113M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTACCGCCACGAAATGGGTT	0.592													19	92					0	0	0	0	T	51900732	C	T	51900732	3	4	326	1	0	0	0	0	1	0	0	0	8349	536	19	1	340	1	KIF2B	17	51900732	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	10329778	51900732	29294478	186	57992											
STXBP4	252983	broad.mit.edu	37	chr17	53158524	53158524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttgttaaatctgttcGtgccttacttgatatggatt	9	17	9	6	1	1	1	0	1	1	0	2	3	1	3	1	2	3	2	1	2	5	7	rs35447433	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:53158524G>A	ENST00000376352.2	+	16	1676	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	STXBP4_ENST00000434978.2_Missense_Mutation_p.R468H	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	490						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAATCTGTTCGTGCCTTACTT	0.378													7	14					0	0	0	0	A	53158524	G	A	53158524	3	1	326	1	0	0	0	0	1	0	0	0	15445	1145	40	1	1523	1	STXBP4	17	53158524	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	1257792	53158524	28036686	187	57993											
BRIP1	83990	broad.mit.edu	37	chr17	59763502	59763502	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgaatggtgctgaatcTgctgccgtacccatttagaa	10	12	11	8	1	1	3	0	2	1	1	1	3	1	3	2	2	4	4	2	2	5	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:59763502T>A	ENST00000259008.2	-	19	2867	c.2600A>T	c.(2599-2601)cAg>cTg	p.Q867L	BRIP1_ENST00000577598.1_Missense_Mutation_p.Q867L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	867					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTGCTGAATCTGCTGCCGTAC	0.358			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					9	83					0	0	0	0	A	59763502	T	A	59763502	3	1	326	1	0	0	0	0	1	0	0	0	1522	1580	55	5	1157	5	BRIP1	17	59763502	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	6604978	59763502	21431708	188	57994			1	89		2	2	13	N	T_C	9.147856e-05
BRIP1	83990	broad.mit.edu	37	chr17	59763514	59763514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatctgctgccgtaccCatttagaaagtcctaaagaa	13	10	8	10	1	1	3	0	1	1	2	2	3	2	3	3	0	3	3	3	0	7	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:59763514C>A	ENST00000259008.2	-	19	2855	c.2588G>T	c.(2587-2589)tGg>tTg	p.W863L	BRIP1_ENST00000577598.1_Missense_Mutation_p.W863L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	863					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTGCCGTACCCATTTAGAAAG	0.348			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					6	80					3.86212e-05	4.08579e-05	1	0	A	59763514	C	A	59763514	3	1	326	1	0	0	0	0	1	0	0	0	1522	595	21	4	1169	4	BRIP1	17	59763514	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	12	59763514	21431696	189	57995			1	89		2	2	13	N	T_C	9.147856e-05
CACNG5	27091	broad.mit.edu	37	chr17	64881204	64881204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggctgagcaactgctcCgattactcaggccagttcct	7	10	9	15	2	1	1	1	1	0	0	4	2	3	1	4	2	4	4	4	2	2	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:64881204C>T	ENST00000533854.1	+	6	912	c.675C>T	c.(673-675)tcC>tcT	p.S225S	CACNG5_ENST00000307139.3_Silent_p.S225S			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	225				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GCAACTGCTCCGATTACTCAG	0.622													13	35					0	0	0	0	T	64881204	C	T	64881204	2	4	326	1	0	0	0	0	0	0	0	1	2585	639	23	1		1	CACNG5	17	64881204	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08	5117690	64881204	16314006	190	57996											
ACTG1	71	broad.mit.edu	37	chr17	79478246	79478246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaacagcgcctccggaCaccggaaccgctcattgcca	9	5	11	16	4	1	0	1	0	0	0	2	3	2	3	5	3	4	2	5	3	2	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:79478246C>T	ENST00000575842.1	-	3	1196	c.770G>A	c.(769-771)tGt>tAt	p.C257Y	ACTG1_ENST00000575087.1_Missense_Mutation_p.C257Y|ACTG1_ENST00000573283.1_Missense_Mutation_p.C257Y|ACTG1_ENST00000331925.2_Missense_Mutation_p.C257Y			P63261	ACTG_HUMAN	actin, gamma 1	257					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGCCTCCGGACACCGGAACCG	0.577													18	108					0	0	0	0	T	79478246	C	T	79478246	3	4	326	1	0	0	0	0	1	0	0	0	196	478	17	4	369	4	ACTG1	17	79478246	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	14597042	79478246	1716964	191	57997											
FSCN2	25794	broad.mit.edu	37	chr17	79503253	79503255	+	In_Frame_Del	DEL	GAA	GAA	-																															aacgggcgctacgtgtgcatGaagaagaatgggcagctggc																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:79503253_79503255delGAA	ENST00000417245.2	+	3	1201_1203	c.1065_1067delGAA	c.(1063-1068)atg>at	p.MK355del	FSCN2_ENST00000334850.7_In_Frame_Del_p.MK355del	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	355					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACGTGTGCATGAAGAAGAATGGG	0.601													5	5	---	---	---	---					-	79503255	GAA	-	79503253	7	5	326	1	0	1	0	1	0	0	0	0	6116	1290	45	0	914	0	FSCN2	17	79503253	In_Frame_Del	DEL	GAA	TCGA-CV-7440-01A-11D-2129-08	25007	79503253	1691957	192	57998											
PCYT2	5833	broad.mit.edu	37	chr17	79865452	79865452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaaactgtctgcatacTcccggtactcagaggacatc	11	9	8	13	1	2	1	1	0	1	1	4	2	3	2	2	2	5	2	2	2	4	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:79865452T>C	ENST00000538936.2	-	6	623	c.515A>G	c.(514-516)gAg>gGg	p.E172G	PCYT2_ENST00000538721.2_Missense_Mutation_p.E172G|PCYT2_ENST00000331285.3_Missense_Mutation_p.E94G|PCYT2_ENST00000570388.1_Missense_Mutation_p.E94G|PCYT2_ENST00000570391.1_Missense_Mutation_p.E140G|PCYT2_ENST00000571105.1_Missense_Mutation_p.E172G	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	172	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GTCTGCATACTCCCGGTACTC	0.667													3	9					0	0	0	0	C	79865452	T	C	79865452	3	2	326	1	0	0	0	0	1	0	0	0	11683	1551	54	5	744	5	PCYT2	17	79865452	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	362199	79865452	1329758	193	57999											
B3GNTL1	146712	broad.mit.edu	37	chr17	80914579	80914579	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacactcaccagcttcaCgcagatgacgaagggtggcc	10	5	10	16	2	2	2	2	1	0	1	2	3	2	2	4	2	1	2	4	2	1	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:80914579C>A	ENST00000576599.1	-	11	1414	c.664G>T	c.(664-666)Gtg>Ttg	p.V222L	B3GNTL1_ENST00000320865.3_Missense_Mutation_p.V333L			Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	333							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			ACCAGCTTCACGCAGATGACG	0.652													3	3					0.00909568	0.00925986	1	0	A	80914579	C	A	80914579	3	1	326	1	0	0	0	0	1	0	0	0	1269	536	19	3	96	3	B3GNTL1	17	80914579	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	1049127	80914579	280631	194	58000											
SMCHD1	23347	broad.mit.edu	37	chr18	2703849	2703852	+	Frame_Shift_Del	DEL	GAAT	GAAT	-																															gggcaacatatgcagcaataGaatgggatggaaagatatac																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:2703849_2703852delGAAT	ENST00000320876.6	+	13	2145_2148	c.1807_1810delGAAT	c.(1807-1812)ggfs	p.EW603fs	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.EW603fs	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	603					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGCAGCAATAGAATGGGATGGAAA	0.319													12	83	---	---	---	---					-	2703852	GAAT	-	2703849	7	5	326	1	0	1	0	1	0	0	0	0	14876	943	33	0	1857	0	SMCHD1	18	2703849	Frame_Shift_Del	DEL	GAAT	TCGA-CV-7440-01A-11D-2129-08		2703849	75373399	195	58001											
MYOM1	8736	broad.mit.edu	37	chr18	3116435	3116435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccagtgaccggagtccgcCcggagtggactggcggcttc	7	6	15	13	4	0	1	0	1	0	0	2	4	1	4	4	5	1	1	4	5	1	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:3116435C>T	ENST00000356443.4	-	21	3530	c.3197G>A	c.(3196-3198)gGg>gAg	p.G1066E	MYOM1_ENST00000261606.7_Missense_Mutation_p.G970E|MYOM1_ENST00000400569.3_Missense_Mutation_p.G1066E	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1066	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGGAGTCCGCCCGGAGTGGAC	0.547													22	23					0	0	0	0	T	3116435	C	T	3116435	3	4	326	1	0	0	0	0	1	0	0	0	10161	623	22	4	1932	4	MYOM1	18	3116435	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	412586	3116435	74960813	196	58002											
L3MBTL4	91133	broad.mit.edu	37	chr18	5956275	5956275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggagttcctgggaatGcctgaacatcaggatagagt	11	10	13	7	0	2	2	2	1	0	1	3	5	3	5	2	3	2	1	2	3	3	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:5956275G>A	ENST00000284898.6	-	20	2016	c.1816C>T	c.(1816-1818)Cat>Tat	p.H606Y	RP11-793A3.1_ENST00000577704.1_RNA|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.H597Y|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.H410Y|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.H606Y	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	606	SAM.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCCTGGGAATGCCTGAACATC	0.498													48	184					0	0	0	0	A	5956275	G	A	5956275	3	1	326	1	0	0	0	0	1	0	0	0	8647	1319	46	4	59	4	L3MBTL4	18	5956275	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	2839840	5956275	72120973	197	58003											
ASXL3	80816	broad.mit.edu	37	chr18	31323155	31323155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaagctctttgcaaagcatCaagctcgagcccatctcttc	10	11	6	14	1	3	0	1	0	2	0	6	1	3	0	1	0	5	4	1	0	3	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:31323155C>G	ENST00000269197.5	+	12	3343	c.3343C>G	c.(3343-3345)Caa>Gaa	p.Q1115E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGCAAAGCATCAAGCTCGAGC	0.527													4	23					0	0	0	0	G	31323155	C	G	31323155	3	3	326	1	0	0	0	0	1	0	0	0	1072	827	29	2	3389	2	ASXL3	18	31323155	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	25366880	31323155	46754093	198	58004											
TCEB3B	51224	broad.mit.edu	37	chr18	44559422	44559422	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcgaattgccttggccatCagcggggccactttcttggc	5	12	11	13	2	3	0	1	0	2	0	4	1	3	0	3	4	2	0	3	4	1	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:44559422C>T	ENST00000332567.4	-	1	2566	c.2214G>A	c.(2212-2214)ctG>ctA	p.L738L	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	738					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTTGGCCATCAGCGGGGCCA	0.562													21	127					0	0	0	0	T	44559422	C	T	44559422	2	4	326	1	0	0	0	0	0	0	0	1	15776	813	29	2		2	TCEB3B	18	44559422	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08	13236267	44559422	33517826	199	58005											
CDH19	28513	broad.mit.edu	37	chr18	64202289	64202289	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgatccagtgagttacttgTagtgattgtaccattatcat	11	15	8	7	1	1	2	1	2	0	0	2	3	2	2	2	0	2	3	2	0	4	6			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:64202289T>C	ENST00000262150.2	-	8	1562	c.1270A>G	c.(1270-1272)Aca>Gca	p.T424A	CDH19_ENST00000540086.1_Missense_Mutation_p.T424A	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	424	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GAGTTACTTGTAGTGATTGTA	0.328													4	33					0	0	0	0	C	64202289	T	C	64202289	3	2	326	1	0	0	0	0	1	0	0	0	3133	1638	57	5	1068	5	CDH19	18	64202289	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	19642867	64202289	13874959	200	58006											
TMPRSS9	360200	broad.mit.edu	37	chr19	2408379	2408379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagacccgacgaagtgggtgGcctacgtgggtgcgacctac	9	6	15	11	4	0	1	0	0	0	1	0	4	0	1	3	3	3	0	3	3	4	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:2408379G>A	ENST00000332578.3	+	7	766	c.766G>A	c.(766-768)Gcc>Acc	p.A256T		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	256	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GAAGTGGGTGGCCTACGTGGG	0.672													17	21					0	0	0	0	A	2408379	G	A	2408379	3	1	326	1	0	0	0	0	1	0	0	0	16347	1203	42	4	792	4	TMPRSS9	19	2408379	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08		2408379	56720604	201	58007											
HDGFRP2	84717	broad.mit.edu	37	chr19	4499579	4499579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcggcccaaagatcgAggcggtgcagaaagtgaaca	12	5	14	10	3	0	3	0	1	0	2	3	4	1	3	2	4	2	1	2	4	3	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:4499579A>G	ENST00000301284.4	+	14	1731	c.1667A>G	c.(1666-1668)gAg>gGg	p.E556G	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.E556G	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		556					transcription, DNA-dependent	nucleus	DNA binding|protein binding										CCAAAGATCgaggcggtgcag	0.622													8	3					0	0	0	0	G	4499579	A	G	4499579	3	3	326	1	0	0	0	0	1	0	0	0	7070	304	11	5	1721	5	HDGFRP2	19	4499579	Missense_Mutation	SNP	A	TCGA-CV-7440-01A-11D-2129-08	2091200	4499579	54629404	202	58008											
NOTCH3	4854	broad.mit.edu	37	chr19	15271836	15271836	+	Frame_Shift_Del	DEL	G	G	-																															ggccgctcctgcggggagacGggggtccctgggttgagcag																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:15271836delG	ENST00000263388.2	-	33	6678	c.6603delC	c.(6601-6603)ccfs	p.P2201fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2201					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCGGGGAGACGGGGGTCCCTG	0.741													2	4	---	---	---	---					-	15271836	G	-	15271836	7	5	326	1	0	1	0	1	0	0	0	0	10620	1103	39	0	366	0	NOTCH3	19	15271836	Frame_Shift_Del	DEL	G	TCGA-CV-7440-01A-11D-2129-08	10772257	15271836	43857147	203	58009											
CYP4F3	4051	broad.mit.edu	37	chr19	15760804	15760804	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagatcctcctgtacatAgacttcctgtattatctcac	10	13	5	13	0	1	2	1	0	1	2	5	2	4	2	3	0	2	3	3	0	4	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:15760804A>T	ENST00000221307.7	+	7	777	c.729A>T	c.(727-729)atA>atT	p.I243I	CYP4F3_ENST00000585846.1_Silent_p.I243I|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000591058.1_Silent_p.I243I|CYP4F3_ENST00000586182.1_Silent_p.I243I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	243					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCCTGTACATAGACTTCCTGT	0.562													7	71					0	0	0	0	T	15760804	A	T	15760804	2	4	326	1	0	0	0	0	0	0	0	1	4222	410	15	5		5	CYP4F3	19	15760804	Silent	SNP	A	TCGA-CV-7440-01A-11D-2129-08	488968	15760804	43368179	204	58010											
CYP4F2	8529	broad.mit.edu	37	chr19	16000439	16000439	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaatatgcaggaggatctCatggtgtctttttgatacaa	11	14	10	6	0	3	1	2	1	2	0	4	3	3	3	0	3	2	1	0	3	4	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:16000439C>G	ENST00000221700.5	-	7	807	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	CYP4F2_ENST00000011989.7_Missense_Mutation_p.E89Q|CYP4F2_ENST00000592328.1_Missense_Mutation_p.E238Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	238					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGAGGATCTCATGGTGTCTT	0.512													9	131					0	0	0	0	G	16000439	C	G	16000439	3	3	326	1	0	0	0	0	1	0	0	0	4220	835	29	2	878	2	CYP4F2	19	16000439	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	239635	16000439	43128544	205	58011											
ZNF506	440515	broad.mit.edu	37	chr19	19905448	19905448	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgtctaatatgaattttCttatgtttattaagggctga	10	20	7	4	0	3	2	0	2	3	0	3	2	3	2	0	1	0	2	0	1	6	9			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:19905448C>G	ENST00000443905.2	-	4	1395	c.1248G>C	c.(1246-1248)aaG>aaC	p.K416N	CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000540806.2_Missense_Mutation_p.K416N|ZNF506_ENST00000450683.2_Missense_Mutation_p.K384N			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TATGAATTTTCTTATGTTTAT	0.338													28	29					0	0	0	0	G	19905448	C	G	19905448	3	3	326	1	0	0	0	0	1	0	0	0	18047	912	32	2	90	2	ZNF506	19	19905448	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	3905009	19905448	39223535	206	58012											
NPHS1	4868	broad.mit.edu	37	chr19	36340485	36340485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgaatgaggccttgatggGggcctccagtgctgggctag	6	9	18	8	0	0	3	0	3	0	0	1	3	1	3	3	5	1	2	3	5	2	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:36340485G>T	ENST00000378910.5	-	6	678	c.679C>A	c.(679-681)Ccc>Acc	p.P227T	NPHS1_ENST00000353632.6_Missense_Mutation_p.P227T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	227	Ig-like C2-type 2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCTTGATGGGGGCCTCCAGT	0.587													28	55					1.30988e-24	1.80355e-24	1	0	T	36340485	G	T	36340485	3	4	326	1	0	0	0	0	1	0	0	0	10652	1232	43	4	3142	4	NPHS1	19	36340485	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	16435037	36340485	22788498	207	58013											
HIF3A	64344	broad.mit.edu	37	chr19	46815462	46815462	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccgatgacctgatcggctGttccgcctacgagtacatcc	7	10	9	15	4	0	2	0	2	0	0	4	4	3	2	5	1	2	3	5	1	2	3			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:46815462G>C	ENST00000339613.2	+	7	902	c.647G>C	c.(646-648)tGt>tCt	p.C216S	HIF3A_ENST00000420102.2_Missense_Mutation_p.C221S|HIF3A_ENST00000300862.3_Missense_Mutation_p.C270S|HIF3A_ENST00000600383.1_Missense_Mutation_p.C203S|HIF3A_ENST00000377670.4_Missense_Mutation_p.C272S|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000244303.6_Missense_Mutation_p.C203S|HIF3A_ENST00000472815.1_Missense_Mutation_p.C203S			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTGATCGGCTGTTCCGCCTAC	0.602													57	98					0	0	0	0	C	46815462	G	C	46815462	3	2	326	1	0	0	0	0	1	0	0	0	7155	1377	48	4	865	4	HIF3A	19	46815462	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	10474977	46815462	12313521	208	58014											
MYH14	79784	broad.mit.edu	37	chr19	50766677	50766677	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggcggctgtttaccaaGgtgagggcagcctggggagg	6	8	20	7	1	0	1	0	1	0	0	0	2	0	2	2	8	2	3	2	8	2	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:50766677G>A	ENST00000440075.2	+	22	2741	c.2694_splice	c.e22+1	p.K898_splice	MYH14_ENST00000596571.1_Splice_Site_p.K857_splice|MYH14_ENST00000376970.2_Splice_Site_p.K890_splice|MYH14_ENST00000598205.1_Splice_Site_p.K865_splice|MYH14_ENST00000262269.8_Splice_Site_p.K898_splice|MYH14_ENST00000425460.1_Splice_Site_p.K865_splice|MYH14_ENST00000601313.1_Splice_Site_p.K898_splice			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	857					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGTTTACCAAGGTGAGGGCAG	0.622													3	13					0	0	0	0	A	50766677	G	A	50766677	5	1	326	1	0	0	0	0	0	0	1	0	10103	1014	35	4	2776	4	MYH14	19	50766677	Splice_Site	SNP	G	TCGA-CV-7440-01A-11D-2129-08	3951215	50766677	8362306	209	58015											
ZNF432	9668	broad.mit.edu	37	chr19	52537631	52537631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtaaaaccttttccaCattcactacatagatatgac	15	12	3	11	0	2	2	2	1	0	1	3	2	3	2	2	0	2	1	2	0	5	7			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:52537631C>A	ENST00000594154.1	-	5	1513	c.1301G>T	c.(1300-1302)tGt>tTt	p.C434F	ZNF432_ENST00000221315.5_Missense_Mutation_p.C434F			O94892	ZN432_HUMAN	zinc finger protein 432	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ACCTTTTCCACATTCACTACA	0.408													16	71					6.31663e-08	7.18156e-08	1	0	A	52537631	C	A	52537631	3	1	326	1	0	0	0	0	1	0	0	0	18001	478	17	4	661	4	ZNF432	19	52537631	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	1770954	52537631	6591352	210	58016											
ZNF415	55786	broad.mit.edu	37	chr19	53612056	53612056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccttaccacattcattGcatttgtaaggtttctctcc	11	15	4	11	0	2	0	1	0	1	0	4	0	3	0	3	1	3	3	3	1	4	6			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:53612056G>A	ENST00000455735.2	-	7	1706	c.1386C>T	c.(1384-1386)tgC>tgT	p.C462C	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.C401C|ZNF415_ENST00000421033.1_Silent_p.C426C|ZNF415_ENST00000601493.1_Silent_p.C184C|ZNF415_ENST00000243643.4_Silent_p.C414C|ZNF415_ENST00000500065.4_Silent_p.C414C|ZNF415_ENST00000448501.1_Silent_p.C462C|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CACATTCATTGCATTTGTAAG	0.403													23	41					0	0	0	0	A	53612056	G	A	53612056	2	1	326	1	0	0	0	0	0	0	0	1	17987	1311	46	4		4	ZNF415	19	53612056	Silent	SNP	G	TCGA-CV-7440-01A-11D-2129-08	1074425	53612056	5516927	211	58017											
NLRP12	91662	broad.mit.edu	37	chr19	54313980	54313980	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtttctcctcccagcagagGcaccagggtccctgaggatc	7	8	11	15	1	1	2	0	1	1	1	5	3	3	3	4	3	1	3	4	3	0	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:54313980G>T	ENST00000324134.6	-	3	1101	c.933C>A	c.(931-933)tgC>tgA	p.C311*	NLRP12_ENST00000391773.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391775.3_Nonsense_Mutation_p.C311*|NLRP12_ENST00000354278.3_Nonsense_Mutation_p.C311*|NLRP12_ENST00000351894.4_Nonsense_Mutation_p.C311*|NLRP12_ENST00000535162.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000345770.5_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391772.1_Nonsense_Mutation_p.C311*	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	311	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCAGCAGAGGCACCAGGGTC	0.567													14	46					2.32078e-09	2.75279e-09	1	0	T	54313980	G	T	54313980	4	4	326	1	0	0	0	0	0	1	0	0	10544	1195	42	4	2380	4	NLRP12	19	54313980	Nonsense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	701924	54313980	4815003	212	58018											
TSEN34	79042	broad.mit.edu	37	chr19	54695621	54695621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcttccaggagcagaGcgccttggcagctgaggccc	8	5	16	12	1	0	3	0	1	0	2	1	5	1	4	3	4	4	4	3	4	0	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:54695621G>A	ENST00000396383.1	+	3	604	c.293G>A	c.(292-294)aGc>aAc	p.S98N	TSEN34_ENST00000302937.4_Missense_Mutation_p.S98N|TSEN34_ENST00000429671.2_Missense_Mutation_p.S98N|TSEN34_ENST00000396388.2_Missense_Mutation_p.S98N			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	98					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGGAGCAGAGCGCCTTGGCA	0.582													25	72					0	0	0	0	A	54695621	G	A	54695621	3	1	326	1	0	0	0	0	1	0	0	0	16708	971	34	4	299	4	TSEN34	19	54695621	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	381641	54695621	4433362	213	58019											
LILRB5	10990	broad.mit.edu	37	chr19	54761048	54761048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatcaggactgagagggtGagggtcatggcgtcagctcc	10	7	15	9	1	3	2	3	2	0	1	4	4	4	3	1	4	1	1	1	4	1	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:54761048G>A	ENST00000450632.1	-	1	86	c.9C>T	c.(7-9)ctC>ctT	p.L3L	LILRB5_ENST00000345866.6_Silent_p.L3L|LILRB5_ENST00000449561.2_Silent_p.L3L|LILRB5_ENST00000316219.5_Silent_p.L3L			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	3					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGAGAGGGTGAGGGTCATGG	0.587													9	44					0	0	0	0	A	54761048	G	A	54761048	2	1	326	1	0	0	0	0	0	0	0	1	8848	1277	45	2		2	LILRB5	19	54761048	Silent	SNP	G	TCGA-CV-7440-01A-11D-2129-08	65427	54761048	4367935	214	58020											
ZNF471	57573	broad.mit.edu	37	chr19	57035697	57035697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttaatatctttcagattgGgaatctatatatgtgacaca	13	17	6	5	0	3	2	1	1	2	1	3	3	3	3	0	1	0	0	0	1	6	8			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:57035697G>T	ENST00000308031.5	+	5	394	c.261G>T	c.(259-261)tgG>tgT	p.W87C	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TTTCAGATTGGGAATCTATAT	0.333													14	50					2.23348e-06	2.43815e-06	1	0	T	57035697	G	T	57035697	3	4	326	1	0	0	0	0	1	0	0	0	18025	1241	43	4	275	4	ZNF471	19	57035697	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	2274649	57035697	2093286	215	58021											
ZNF211	10520	broad.mit.edu	37	chr19	58152339	58152340	+	Frame_Shift_Del	DEL	CT	CT	-																															gcagcacattacagaggcacCtttcagaagttatgtggaca																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:58152339_58152340delCT	ENST00000544273.1	+	5	848_849	c.521_522delCT	c.(520-522)cfs	p.P174fs	ZNF211_ENST00000420680.1_Frame_Shift_Del_p.P166fs|ZNF211_ENST00000391703.3_Frame_Shift_Del_p.P101fs|ZNF211_ENST00000541801.1_Frame_Shift_Del_p.P153fs|ZNF211_ENST00000347302.3_Frame_Shift_Del_p.P162fs|ZNF211_ENST00000240731.4_Frame_Shift_Del_p.P175fs|ZNF211_ENST00000254182.7_Frame_Shift_Del_p.P153fs|ZNF211_ENST00000299871.5_Frame_Shift_Del_p.P227fs			Q13398	ZN211_HUMAN	zinc finger protein 211	162						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAGAGGCACCTTTCAGAAGTT	0.47													25	58	---	---	---	---					-	58152340	CT	-	58152339	7	5	326	1	0	1	0	1	0	0	0	0	17862	681	24	0	538	0	ZNF211	19	58152339	Frame_Shift_Del	DEL	CT	TCGA-CV-7440-01A-11D-2129-08	1116642	58152339	976644	216	58022											
ZNF135	7694	broad.mit.edu	37	chr19	58579086	58579086	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagaaaagccctatgagTgtggtgagtgtgggaaagcc	12	7	16	6	0	0	3	0	2	0	1	0	5	0	4	2	3	2	0	2	3	4	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:58579086T>A	ENST00000506786.1	+	5	1662	c.1108T>A	c.(1108-1110)Tgt>Agt	p.C370S	ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000401053.4_Missense_Mutation_p.C436S|ZNF135_ENST00000439855.2_Missense_Mutation_p.C412S|ZNF135_ENST00000313434.5_Missense_Mutation_p.C412S|ZNF135_ENST00000511556.1_Missense_Mutation_p.C424S			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	424					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GCCCTATGAGTGTGGTGAGTG	0.542													18	25					0	0	0	0	A	58579086	T	A	58579086	3	1	326	1	0	0	0	0	1	0	0	0	17820	1696	59	5	1437	5	ZNF135	19	58579086	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	426747	58579086	549897	217	58023											
CSNK2A1	1457	broad.mit.edu	37	chr20	489118	489118	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattccaccacatgtgactcGtaatcccagtattctcgagg	10	11	7	13	2	1	1	0	1	1	0	5	2	3	1	3	1	0	2	3	1	2	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:489118G>T	ENST00000217244.3	-	3	453	c.78C>A	c.(76-78)taC>taA	p.Y26*	CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.Y26*|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.Y26*|CSNK2A1_ENST00000460062.1_Intron|CSNK2A1_ENST00000400217.1_Intron	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	26					axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CATGTGACTCGTAATCCCAGT	0.458													33	29					1.59361e-14	2.04999e-14	1	0	T	489118	G	T	489118	4	4	326	1	0	0	0	0	0	1	0	0	3989	1140	40	3	1145	3	CSNK2A1	20	489118	Nonsense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08		489118	62536402	218	58024											
ZHX3	23051	broad.mit.edu	37	chr20	39832794	39832794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgttcctatcaggggccCgttggcggcatgggggtttt	4	12	15	10	2	1	0	1	0	0	0	2	0	2	0	2	6	0	4	2	6	1	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:39832794C>A	ENST00000309060.3	-	4	1178	c.763G>T	c.(763-765)Ggg>Tgg	p.G255W	ZHX3_ENST00000544979.2_Missense_Mutation_p.G255W|ZHX3_ENST00000432768.2_Missense_Mutation_p.G255W|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.G255W|ZHX3_ENST00000559234.1_Missense_Mutation_p.G255W|ZHX3_ENST00000540170.1_Missense_Mutation_p.G255W			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	255	Required for homodimerization and interaction with NFYA.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ATCAGGGGCCCGTTGGCGGCA	0.582													22	69					1.87028e-06	2.04983e-06	1	0	A	39832794	C	A	39832794	3	1	326	1	0	0	0	0	1	0	0	0	17772	652	23	3	2115	3	ZHX3	20	39832794	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	39343676	39832794	23192726	219	58025											
EDN3	1908	broad.mit.edu	37	chr20	57896161	57896161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagggaatctgcagctctCacatcggccacacttgcgct	8	9	9	15	2	2	0	1	0	2	0	5	1	3	1	2	2	3	3	2	2	1	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:57896161C>T	ENST00000311585.7	+	3	825	c.455C>T	c.(454-456)tCa>tTa	p.S152L	EDN3_ENST00000395654.3_Missense_Mutation_p.S152L|EDN3_ENST00000371025.3_Missense_Mutation_p.S152L|EDN3_ENST00000337938.2_Missense_Mutation_p.S152L|EDN3_ENST00000371028.2_Missense_Mutation_p.S152L	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	152					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CTGCAGCTCTCACATCGGCCA	0.582													33	77					0	0	0	0	T	57896161	C	T	57896161	3	4	326	1	0	0	0	0	1	0	0	0	4954	838	29	2	465	2	EDN3	20	57896161	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	18063367	57896161	5129359	220	58026											
LAMA5	3911	broad.mit.edu	37	chr20	60908211	60908211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccgtggggcagggccGgggcaggctgttgtcctggc	2	8	19	12	2	0	0	0	0	0	0	2	0	2	0	3	7	1	5	3	7	0	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:60908211G>A	ENST00000252999.3	-	26	3283	c.3217C>T	c.(3217-3219)Cgg>Tgg	p.R1073W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1073	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGCAGGGCCGGGGCAGGCTG	0.701													8	6					0	0	0	0	A	60908211	G	A	60908211	3	1	326	1	0	0	0	0	1	0	0	0	8662	1115	39	1	8090	1	LAMA5	20	60908211	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	3012050	60908211	2117309	221	58027											
TFIP11	24144	broad.mit.edu	37	chr22	26894935	26894935	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatctcggtgccataagTgcagtcctgaggagaaaggt	11	9	14	7	1	1	3	0	2	1	1	3	5	2	3	2	3	2	1	2	3	2	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:26894935T>A	ENST00000407690.1	-	10	1619	c.1336A>T	c.(1336-1338)Act>Tct	p.T446S	TFIP11_ENST00000405938.1_Missense_Mutation_p.T446S|TFIP11_ENST00000407431.1_Missense_Mutation_p.T446S|TFIP11_ENST00000407148.1_Missense_Mutation_p.T446S	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	446					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GTGCCATAAGTGCAGTCCTGA	0.557													106	63					0	0	0	0	A	26894935	T	A	26894935	3	1	326	1	0	0	0	0	1	0	0	0	15901	1696	59	5	1201	5	TFIP11	22	26894935	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08		26894935	24409631	222	58028											
CHEK2	11200	broad.mit.edu	37	chr22	29095857	29095867	+	Frame_Shift_Del	DEL	AGCTTGCAGGT	AGCTTGCAGGT	-																															agagcatctggtaaaaatagAgcttgcaggtagcttctttc																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:29095857_29095867delAGCTTGCAGGT	ENST00000544772.1	-	10	1740_1750	c.304_314delACCTGCAAGCT	c.(304-315)cfs	p.TCKL102fs	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000348295.3_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000328354.6_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000382580.2_Frame_Shift_Del_p.TCKL366fs|CHEK2_ENST00000405598.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000404276.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000403642.1_Frame_Shift_Del_p.TCKL232fs|CHEK2_ENST00000382578.1_Frame_Shift_Del_p.TCKL232fs|CHEK2_ENST00000402731.1_Frame_Shift_Del_p.TCKL323fs	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	323					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTAAAAATAGAGCTTGCAGGTAGCTTCTTTC	0.464			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					48	124	---	---	---	---					-	29095867	AGCTTGCAGGT	-	29095857	7	5	326	1	0	1	0	1	0	0	0	0	3364	304	11	0	682	0	CHEK2	22	29095857	Frame_Shift_Del	DEL	AGCTTGCAGGT	TCGA-CV-7440-01A-11D-2129-08	2200922	29095857	22208709	223	58029											
ADSL	158	broad.mit.edu	37	chr22	40757500	40757500	+	Missense_Mutation	SNP	G	G	T																															ttacatgggcaggctcaagtGcgatgccatataagcggaat																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:40757500G>T	ENST00000216194.7	+	9	927	c.871G>T	c.(871-873)Gcg>Tcg	p.A291S	ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000454266.2_Missense_Mutation_p.A305S|ADSL_ENST00000342312.6_Missense_Mutation_p.A291S	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	291					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						AGGCTCAAGTGCGATGCCATA	0.522													17	99					1.01871e-10	1.25169e-10	1	0	T	40757500	G	T	40757500	3	4	326	1	0	0	0	0	1	0	0	0	346	1319	46	4	905	4	ADSL	22	40757500	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	11661643	40757500	10547066	224	58030	474	2									
ADSL	158	broad.mit.edu	37	chr22	40757501	40757501	+	Missense_Mutation	SNP	C	C	G																															tacatgggcaggctcaagtgCgatgccatataagcggaatc																										TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:40757501C>G	ENST00000216194.7	+	9	928	c.872C>G	c.(871-873)gCg>gGg	p.A291G	ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000454266.2_Missense_Mutation_p.A305G|ADSL_ENST00000342312.6_Missense_Mutation_p.A291G	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	291					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	p.A291V(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GGCTCAAGTGCGATGCCATAT	0.527													18	98					0	0	0	0	G	40757501	C	G	40757501	3	3	326	1	0	0	0	0	1	0	0	0	346	768	27	3	906	3	ADSL	22	40757501	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	1	40757501	10547065	225	58031	474	2									
SGSM3	27352	broad.mit.edu	37	chr22	40800432	40800432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgctccctggtgctggcCggcatcccacatggcatgag	5	8	12	16	2	0	1	0	1	0	0	3	1	3	1	4	4	1	4	4	4	0	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:40800432C>T	ENST00000248929.9	+	5	528	c.339C>T	c.(337-339)gcC>gcT	p.A113A	SGSM3_ENST00000454798.2_Silent_p.A46A	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	113					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TGGTGCTGGCCGGCATCCCAC	0.607													23	12					0	0	0	0	T	40800432	C	T	40800432	2	4	326	1	0	0	0	0	0	0	0	1	14311	639	23	1		1	SGSM3	22	40800432	Silent	SNP	C	TCGA-CV-7440-01A-11D-2129-08	42931	40800432	10504134	226	58032											
CELSR1	9620	broad.mit.edu	37	chr22	46806456	46806456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagggccggtcagatccaggGacctgggtaggtaaagccat	10	6	16	9	1	1	1	1	0	0	1	2	3	2	2	4	5	1	2	4	5	3	2			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:46806456G>A	ENST00000262738.3	-	7	4771	c.4772C>T	c.(4771-4773)tCc>tTc	p.S1591F		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1591	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGATCCAGGGACCTGGGTAG	0.642													32	26					0	0	0	0	A	46806456	G	A	46806456	3	1	326	1	0	0	0	0	1	0	0	0	3250	1174	41	2	4388	2	CELSR1	22	46806456	Missense_Mutation	SNP	G	TCGA-CV-7440-01A-11D-2129-08	6006024	46806456	4498110	227	58033											
FRMPD4	9758	broad.mit.edu	37	chrX	12734432	12734432	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccggggaggccccctgTgaggcagactacagaagtct	9	5	14	13	1	1	3	0	1	1	2	1	4	1	4	3	4	2	1	3	4	2	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:12734432T>A	ENST00000380682.1	+	15	2360	c.1854T>A	c.(1852-1854)tgT>tgA	p.C618*		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	618					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGCCCCCTGTGAGGCAGACT	0.532													47	30					0	0	0	0	A	12734432	T	A	12734432	4	1	326	1	0	0	0	0	0	1	0	0	6107	1702	59	5	1912	5	FRMPD4	23	12734432	Nonsense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08		12734432	142536128	228	58034											
HUWE1	10075	broad.mit.edu	37	chrX	53672318	53672318	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttgtcagatcccagaCgagtgatgtagtttgatctt	8	15	9	9	1	3	4	1	2	2	2	5	5	5	4	2	0	0	2	2	0	1	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:53672318C>G	ENST00000342160.3	-	6	906	c.449G>C	c.(448-450)cGt>cCt	p.R150P	HUWE1_ENST00000218328.8_Missense_Mutation_p.R150P|HUWE1_ENST00000262854.6_Missense_Mutation_p.R150P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	150					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGATCCCAGACGAGTGATGTA	0.458													16	14					0	0	0	0	G	53672318	C	G	53672318	3	3	326	1	0	0	0	0	1	0	0	0	7514	536	19	3	12987	3	HUWE1	23	53672318	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	40937886	53672318	101598242	229	58035											
HEPH	9843	broad.mit.edu	37	chrX	65480093	65480093	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagaccctcttcactgtttTttctcgaacaggtaagtcct	8	14	8	11	1	3	1	1	0	2	1	5	3	4	1	2	2	1	2	2	2	2	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:65480093T>C	ENST00000519389.1	+	19	3529	c.3350T>C	c.(3349-3351)tTt>tCt	p.F1117S	HEPH_ENST00000336279.5_Missense_Mutation_p.F796S|HEPH_ENST00000441993.2_Missense_Mutation_p.F1066S|HEPH_ENST00000343002.2_Missense_Mutation_p.F1063S|HEPH_ENST00000374727.3_Missense_Mutation_p.F1066S|HEPH_ENST00000419594.1_Missense_Mutation_p.F874S			Q9BQS7	HEPH_HUMAN	hephaestin	1063					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.F1063C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTCACTGTTTTTTCTCGAACA	0.473													17	12					0	0	0	0	C	65480093	T	C	65480093	3	2	326	1	0	0	0	0	1	0	0	0	7104	1841	64	5	3424	5	HEPH	23	65480093	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	11807775	65480093	89790467	230	58036											
ATRX	546	broad.mit.edu	37	chrX	76907828	76907828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttctttttcctcctcttCttcctcagaattactctaca	6	19	1	15	0	6	1	1	0	5	1	9	1	9	1	3	0	2	0	3	0	3	7			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:76907828C>G	ENST00000373344.5	-	15	4547	c.4333G>C	c.(4333-4335)Gaa>Caa	p.E1445Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E1407Q	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1445	Poly-Glu.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	tcctcctcttcttcctcAGAA	0.378			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						22	21					0	0	0	0	G	76907828	C	G	76907828	3	3	326	1	0	0	0	0	1	0	0	0	1212	922	32	2	3229	2	ATRX	23	76907828	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	11427735	76907828	78362732	231	58037											
BEX4	56271	broad.mit.edu	37	chrX	102471104	102471104	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagtccaaagaggaactagCggcaaacaatctcaacgggg	15	4	13	9	2	1	1	1	0	1	1	3	3	2	3	1	5	4	1	1	5	6	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:102471104C>A	ENST00000372695.5	+	3	258	c.23C>A	c.(22-24)gCg>gAg	p.A8E	BEX4_ENST00000372691.3_Missense_Mutation_p.A8E	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	8						cytoplasm|nucleus				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GAGGAACTAGCGGCAAACAAT	0.512													20	21					7.21436e-19	9.5958e-19	1	0	A	102471104	C	A	102471104	3	1	326	1	0	0	0	0	1	0	0	0	1417	768	27	3	25	3	BEX4	23	102471104	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	25563276	102471104	52799456	232	58038											
ACSL4	2182	broad.mit.edu	37	chrX	108904779	108904779	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttggcaaaagcacagaTgttgtcaataagtggacaat	14	11	9	7	0	1	1	1	0	0	1	1	2	1	2	1	2	1	3	1	2	5	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:108904779T>C	ENST00000340800.2	-	15	2305	c.1801A>G	c.(1801-1803)Atc>Gtc	p.I601V	ACSL4_ENST00000348502.6_Missense_Mutation_p.I560V|ACSL4_ENST00000469796.2_Missense_Mutation_p.I601V	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	601					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AAAGCACAGATGTTGTCAATA	0.333													22	19					0	0	0	0	C	108904779	T	C	108904779	3	2	326	1	0	0	0	0	1	0	0	0	179	1464	51	5	346	5	ACSL4	23	108904779	Missense_Mutation	SNP	T	TCGA-CV-7440-01A-11D-2129-08	6433675	108904779	46365781	233	58039											
ALG13	79868	broad.mit.edu	37	chrX	110951259	110951259	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcttttcacagggtcCtgacttgtcctgggcaagcc	5	13	9	14	0	3	1	1	1	2	0	5	1	5	1	4	2	1	1	4	2	1	4			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:110951259C>G	ENST00000394780.3	+	4	400	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V	ALG13_ENST00000251943.4_Missense_Mutation_p.L26V|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	130					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						TCACAGGGTCCTGACTTGTCC	0.512													7	7					0	0	0	0	G	110951259	C	G	110951259	3	3	326	1	0	0	0	0	1	0	0	0	515	680	24	4	544	4	ALG13	23	110951259	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	2046480	110951259	44319301	234	58040											
TRPC5	7224	broad.mit.edu	37	chrX	111097062	111097062	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctgtacatgaaggtcTgtcctgacaatgtgctgaga	9	10	12	10	0	1	3	0	3	1	1	2	4	2	3	3	2	2	2	3	2	3	1			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:111097062T>A	ENST00000262839.2	-	4	2091	c.1173A>T	c.(1171-1173)acA>acT	p.T391T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	391					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATGAAGGTCTGTCCTGACAA	0.483													46	28					0	0	0	0	A	111097062	T	A	111097062	2	1	326	1	0	0	0	0	0	0	0	1	16677	1567	55	5		5	TRPC5	23	111097062	Silent	SNP	T	TCGA-CV-7440-01A-11D-2129-08	145803	111097062	44173498	235	58041											
UBE2NL	389898	broad.mit.edu	37	chrX	142967322	142967322	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttcatgtggtcattgcTggggaatcaaaggattcccc	9	14	10	8	0	3	0	3	0	0	0	4	2	4	2	2	4	1	1	2	4	3	5			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:142967322T>A	ENST00000370494.1	+	1	150	c.120T>A	c.(118-120)gcT>gcA	p.A40A		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	40							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCATTGCTGGGGAATCAA	0.473													53	35					0	0	0	0	A	142967322	T	A	142967322	2	1	326	1	0	0	0	0	0	0	0	1	16963	1567	55	5		5	UBE2NL	23	142967322	Silent	SNP	T	TCGA-CV-7440-01A-11D-2129-08	31870260	142967322	12303238	236	58042											
ATP2B3	492	broad.mit.edu	37	chrX	152807330	152807330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccggaacgggcagctcCtccaggtccccgtggctgcg	5	7	13	16	4	1	0	1	0	0	0	5	1	5	1	5	4	3	3	5	4	1	0			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:152807330C>A	ENST00000370186.1	+	4	936	c.610C>A	c.(610-612)Ctc>Atc	p.L204I	ATP2B3_ENST00000370181.2_Missense_Mutation_p.L204I|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L204I|ATP2B3_ENST00000263519.4_Missense_Mutation_p.L204I|ATP2B3_ENST00000393842.1_Missense_Mutation_p.L204I|ATP2B3_ENST00000349466.2_Missense_Mutation_p.L204I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	204					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGCAGCTCCTCCAGGTCCC	0.622													61	27					3.07184e-27	4.25093e-27	1	0	A	152807330	C	A	152807330	3	1	326	1	0	0	0	0	1	0	0	0	1145	681	24	4	620	4	ATP2B3	23	152807330	Missense_Mutation	SNP	C	TCGA-CV-7440-01A-11D-2129-08	9840008	152807330	2463230	237	58043											
RERE	473	broad.mit.edu	37	chr1	8421400	8421400	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgacgagtccgagtcacTctcattgtcctgggggctgg	5	10	15	11	2	2	1	2	1	1	0	5	3	4	1	2	4	0	2	2	4	0	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:8421400T>G	ENST00000337907.3	-	19	2801	c.2167A>C	c.(2167-2169)Agt>Cgt	p.S723R	RERE_ENST00000377464.1_Missense_Mutation_p.S455R|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.S723R|RERE_ENST00000476556.1_Missense_Mutation_p.S169R	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	723					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCCGAGTCACTCTCATTGTCC	0.647													56	39					0	0	0	0	G	8421400	T	G	8421400	3	3	327	1	0	0	0	0	1	0	0	0	13313	1551	54	5	2557	5	RERE	1	8421400	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08		8421400	240829221	1	58044											
SLC25A33	84275	broad.mit.edu	37	chr1	9640230	9640230	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaaattccacaagtttttTtggacttatggcagctgctg	11	14	9	7	0	0	0	0	0	0	0	1	2	1	1	1	2	2	4	1	2	4	5			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:9640230T>A	ENST00000302692.6	+	6	911	c.701T>A	c.(700-702)tTt>tAt	p.F234Y		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	234					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		ACAAGTTTTTTTGGACTTATG	0.398													26	45					0	0	0	0	A	9640230	T	A	9640230	3	1	327	1	0	0	0	0	1	0	0	0	14585	1841	64	5	723	5	SLC25A33	1	9640230	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08	1218830	9640230	239610391	2	58045											
RLF	6018	broad.mit.edu	37	chr1	40703673	40703673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagtctcttcagtcagtttCatctatctcagaccttaatt	10	17	4	10	0	6	1	4	0	3	1	8	1	6	1	1	0	0	1	1	0	3	6			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:40703673C>T	ENST00000372771.4	+	8	3326	c.3299C>T	c.(3298-3300)tCa>tTa	p.S1100L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1100					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAGTCAGTTTCATCTATCTCA	0.418													41	89					0	0	0	0	T	40703673	C	T	40703673	3	4	327	1	0	0	0	0	1	0	0	0	13474	838	29	2	3329	2	RLF	1	40703673	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	31063443	40703673	208546948	3	58046											
LRP8	7804	broad.mit.edu	37	chr1	53742373	53742373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggggcttacggcagtcggCctcgtccgatttgtctttgc	4	12	14	11	4	1	0	0	0	1	0	4	1	2	0	2	4	2	2	2	4	1	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:53742373C>T	ENST00000306052.6	-	5	975	c.874G>A	c.(874-876)Gcc>Acc	p.A292T	LRP8_ENST00000465675.1_Intron|LRP8_ENST00000371454.2_Missense_Mutation_p.A292T|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000347547.2_Intron	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	292	LDL-receptor class A 6.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CGGCAGTCGGCCTCGTCCGAT	0.687													7	4					0	0	0	0	T	53742373	C	T	53742373	3	4	327	1	0	0	0	0	1	0	0	0	9027	739	26	4	2077	4	LRP8	1	53742373	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	13038700	53742373	195508248	4	58047											
PDE4DIP	9659	broad.mit.edu	37	chr1	144916643	144916643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcttgttccttctgccaaCggctaaatttggtttccatt	6	18	6	11	1	2	0	0	0	2	0	5	0	4	0	3	2	2	3	3	2	3	7	rs141467460		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:144916643C>A	ENST00000529945.1	-	9	2640	c.2201G>T	c.(2200-2202)cGt>cTt	p.R734L	PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R358L|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R734L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R637L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R708L|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R571L|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R571L|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R571L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R571L|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R708L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	571					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTCTGCCAACGGCTAAATTT	0.448			T	PDGFRB	MPD								197	620					3.18325e-104	3.99801e-104	1	0	A	144916643	C	A	144916643	3	1	327	1	0	0	0	0	1	0	0	0	11714	536	19	3	5466	3	PDE4DIP	1	144916643	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	91174270	144916643	104333978	5	58048											
HCN3	57657	broad.mit.edu	37	chr1	155258185	155258185	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaaacctccaaggacagcCcagccccccaggccaccagt	11	2	8	20	0	0	0	0	0	0	0	1	1	1	1	9	2	3	0	9	2	2	0			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:155258185C>A	ENST00000368358.3	+	8	2264	c.2256C>A	c.(2254-2256)gcC>gcA	p.A752A	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	752	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAAGGACAGCCCAGCCCCCCA	0.617													29	152					7.01153e-11	7.58684e-11	1	0	A	155258185	C	A	155258185	2	1	327	1	0	0	0	0	0	0	0	1	7048	610	22	4		4	HCN3	1	155258185	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08	10341542	155258185	93992436	6	58049											
CCDC19	25790	broad.mit.edu	37	chr1	159858170	159858170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttccttctccttcttgaagGcctggtccctggcctcaagt	4	14	8	15	0	3	1	1	1	2	0	6	1	5	1	5	3	0	0	5	3	2	4	rs145313899		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:159858170G>T	ENST00000426543.2	-	4	589	c.134C>A	c.(133-135)gCc>gAc	p.A45D	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.A130D			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	130						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CTTCTTGAAGGCCTGGTCCCT	0.537													23	84					1.42536e-11	1.56641e-11	1	0	T	159858170	G	T	159858170	3	4	327	1	0	0	0	0	1	0	0	0	2821	1203	42	4	1302	4	CCDC19	1	159858170	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	4599985	159858170	89392451	7	58050											
IGSF9	57549	broad.mit.edu	37	chr1	159901696	159901696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatattcttccttgggcCgctctataaaagctggggga	10	11	12	8	1	2	0	0	0	2	0	3	2	3	2	2	4	1	2	2	4	5	6			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:159901696C>A	ENST00000368094.1	-	11	1465	c.1268G>T	c.(1267-1269)cGg>cTg	p.R423L	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.R407L	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	423	Ig-like 5.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCCTTGGGCCGCTCTATAAA	0.577													20	94					3.7963e-18	4.42553e-18	1	0	A	159901696	C	A	159901696	3	1	327	1	0	0	0	0	1	0	0	0	7658	652	23	3	2315	3	IGSF9	1	159901696	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	43526	159901696	89348925	8	58051											
PEX19	5824	broad.mit.edu	37	chr1	160251977	160251977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttggtcagctcttcttccGacatgctggagttctagata	7	14	9	11	1	4	1	1	0	3	1	5	3	5	2	2	2	2	3	2	2	2	6			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:160251977G>A	ENST00000368072.5	-	5	467	c.446C>T	c.(445-447)tCg>tTg	p.S149L	DCAF8_ENST00000556710.1_Missense_Mutation_p.S2L|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_Missense_Mutation_p.S59L	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCTTCTTCCGACATGCTGGA	0.493													12	65					0	0	0	0	A	160251977	G	A	160251977	3	1	327	1	0	0	0	0	1	0	0	0	11816	1059	37	1	469	1	PEX19	1	160251977	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	350281	160251977	88998644	9	58052											
UBE2T	29089	broad.mit.edu	37	chr1	202301067	202301067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagcctctggtagattatCaagcatctcttcctcatcag	10	12	6	13	0	5	1	3	0	2	1	7	1	6	1	3	1	2	2	3	1	3	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:202301067C>T	ENST00000367274.4	-	7	639	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	164					DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|skin(1)	5						GGTAGATTATCAAGCATCTCT	0.423													37	104					0	0	0	0	T	202301067	C	T	202301067	3	4	327	1	0	0	0	0	1	0	0	0	16969	826	29	2	107	2	UBE2T	1	202301067	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	42049090	202301067	46949554	10	58053											
DISP1	84976	broad.mit.edu	37	chr1	223178942	223178942	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcagaagcactggatcGttactcaaaacgtgttgcga	11	10	11	9	3	2	1	1	0	1	1	3	3	2	2	0	1	5	4	0	1	4	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:223178942G>C	ENST00000284476.6	+	8	4367	c.4203G>C	c.(4201-4203)tcG>tcC	p.S1401S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1401					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCACTGGATCGTTACTCAAAA	0.458													17	66					0	0	0	0	C	223178942	G	C	223178942	2	2	327	1	0	0	0	0	0	0	0	1	4576	1132	40	3		3	DISP1	1	223178942	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	20877875	223178942	26071679	11	58054											
TLR5	7100	broad.mit.edu	37	chr1	223284381	223284381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ataacagataaaacagaagcCccggaactttgtgactgtga	16	8	9	8	1	0	4	0	2	0	2	0	5	0	5	2	1	4	0	2	1	5	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:223284381C>A	ENST00000540964.1	-	4	2454	c.1993G>T	c.(1993-1995)Ggc>Tgc	p.G665C	TLR5_ENST00000342210.6_Missense_Mutation_p.G665C			O60602	TLR5_HUMAN	toll-like receptor 5	665			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAACAGAAGCCCCGGAACTTT	0.448													82	26					1.91593e-42	2.37801e-42	1	0	A	223284381	C	A	223284381	3	1	327	1	0	0	0	0	1	0	0	0	16048	623	22	4	587	4	TLR5	1	223284381	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	105439	223284381	25966240	12	58055											
ADAM17	6868	broad.mit.edu	37	chr2	9637328	9637328	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacttgccaagatccaagcaAacagtgtcatcttcagcatt	13	10	6	12	0	3	1	2	0	1	1	4	1	4	1	2	0	4	2	2	0	3	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:9637328A>T	ENST00000310823.3	-	14	1880	c.1698T>A	c.(1696-1698)gtT>gtA	p.V566V		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	566	Cys-rich.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GATCCAAGCAAACAGTGTCAT	0.478													56	65					0	0	0	0	T	9637328	A	T	9637328	2	4	327	1	0	0	0	0	0	0	0	1	238	1	1	5		5	ADAM17	2	9637328	Silent	SNP	A	TCGA-CV-7446-01A-11D-2229-08		9637328	233562045	13	58056											
CGREF1	10669	broad.mit.edu	37	chr2	27324711	27324711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtcatgagcccatcccCattcaggtcctgggtctcga	7	9	12	13	1	3	1	2	1	1	0	6	2	5	1	4	4	1	0	4	4	0	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:27324711C>T	ENST00000402394.1	-	6	656	c.388G>A	c.(388-390)Ggg>Agg	p.G130R	CGREF1_ENST00000404694.3_Missense_Mutation_p.G252R|CGREF1_ENST00000452318.2_Missense_Mutation_p.G34R|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G130R|CGREF1_ENST00000260595.5_Missense_Mutation_p.G130R|CGREF1_ENST00000405600.1_Missense_Mutation_p.G130R	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	130	EF-hand 2.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCCATCCCCATTCAGGTCC	0.592													53	55					0	0	0	0	T	27324711	C	T	27324711	3	4	327	1	0	0	0	0	1	0	0	0	3334	594	21	4	764	4	CGREF1	2	27324711	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	17687383	27324711	215874662	14	58057											
NLRC4	58484	broad.mit.edu	37	chr2	32476214	32476214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaaagaaccctctgcCgcagcttcagcagcatggcc	12	5	11	13	1	2	1	1	0	1	1	2	3	2	2	3	2	5	4	3	2	4	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:32476214C>T	ENST00000404025.2	-	5	1207	c.719G>A	c.(718-720)cGg>cAg	p.R240Q	NLRC4_ENST00000360906.5_Missense_Mutation_p.R240Q|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.R240Q			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	240	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACCCTCTGCCGCAGCTTCAG	0.498													36	83					0	0	0	0	T	32476214	C	T	32476214	3	4	327	1	0	0	0	0	1	0	0	0	10539	652	23	1	2379	1	NLRC4	2	32476214	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	5151503	32476214	210723159	15	58058											
FANCL	55120	broad.mit.edu	37	chr2	58431263	58431263	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagtttaacgaggcacatAcctttgccttcaacttgaga	13	11	7	10	1	1	1	1	1	0	1	1	3	1	1	2	1	5	2	2	1	4	6			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:58431263A>T	ENST00000402135.3	-	6	508		c.e6+1		FANCL_ENST00000540646.1_Intron|FANCL_ENST00000233741.4_Splice_Site|FANCL_ENST00000403676.1_Splice_Site|FANCL_ENST00000403295.3_Splice_Site	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L						DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CGAGGCACATACCTTTGCCTT	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				32	32					0	0	0	0	T	58431263	A	T	58431263	5	4	327	1	0	0	0	0	0	0	1	0	5715	405	14	5	705	5	FANCL	2	58431263	Splice_Site	SNP	A	TCGA-CV-7446-01A-11D-2229-08	25955049	58431263	184768110	16	58059											
EGR4	1961	broad.mit.edu	37	chr2	73519760	73519762	+	In_Frame_Del	DEL	GCG	GCG	-																															gaagagtgcctccgggtcgtGcgggtgttcgggcactgcct																								rs35980039	byFrequency	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:73519760_73519762delGCG	ENST00000545030.1	-	2	667_669	c.593_595delCGC	c.(592-597)cac>c	p.PH198del	EGR4_ENST00000436467.2_In_Frame_Del_p.PH95del	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN	early growth response 4	94						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCCGGGTCGTGCGGGTGTTCGGG	0.66													9	25	---	---	---	---					-	73519762	GCG	-	73519760	7	5	327	1	0	1	0	1	0	0	0	0	5010	1319	46	0	1178	0	EGR4	2	73519760	In_Frame_Del	DEL	GCG	TCGA-CV-7446-01A-11D-2229-08	15088497	73519760	169679613	17	58060											
NCAPH	23397	broad.mit.edu	37	chr2	97034730	97034730	+	Frame_Shift_Del	DEL	A	A	-																															gcaaaccacagggaagctggAaaagaagcggccctggcaga																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:97034730delA	ENST00000455200.1	+	16	2281	c.1986delA	c.(1984-1986)ggfs	p.G662fs	NCAPH_ENST00000240423.4_Frame_Shift_Del_p.G673fs|NCAPH_ENST00000427946.1_Frame_Shift_Del_p.G537fs			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	673					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGGAAGCTGGAAAAGAAGCGG	0.527													2	4	---	---	---	---					-	97034730	A	-	97034730	7	5	327	1	0	1	0	1	0	0	0	0	10279	233	9	0	2081	0	NCAPH	2	97034730	Frame_Shift_Del	DEL	A	TCGA-CV-7446-01A-11D-2229-08	23514970	97034730	146164643	18	58061											
CNTNAP5	129684	broad.mit.edu	37	chr2	125547598	125547598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggagtcaggccaggctgcCccggccactgcagcagctac	7	5	13	16	1	1	0	1	0	0	0	1	1	1	1	4	4	5	4	4	4	1	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:125547598C>T	ENST00000431078.1	+	18	3233	c.2869C>T	c.(2869-2871)Ccc>Tcc	p.P957S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	957	EGF-like 2.			PGHCSS -> SIKKLK (in Ref. 4; BAB71205).	cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCCAGGCTGCCCCGGCCACTG	0.542													18	63					0	0	0	0	T	125547598	C	T	125547598	3	4	327	1	0	0	0	0	1	0	0	0	3680	623	22	4	2939	4	CNTNAP5	2	125547598	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	28512868	125547598	117651775	19	58062											
GALNT5	11227	broad.mit.edu	37	chr2	158142636	158142636	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaggctggcaggagcacaGaatgcaacaggtaagaagtt	14	5	14	8	0	0	2	0	0	0	2	0	3	0	3	1	4	3	6	1	4	4	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:158142636G>C	ENST00000259056.4	+	3	2216	c.1731G>C	c.(1729-1731)caG>caC	p.Q577H		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	577	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CAGGAGCACAGAATGCAACAG	0.358													32	32					0	0	0	0	C	158142636	G	C	158142636	3	2	327	1	0	0	0	0	1	0	0	0	6265	933	33	2	1741	2	GALNT5	2	158142636	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	32595038	158142636	85056737	20	58063											
SCN3A	6328	broad.mit.edu	37	chr2	165947745	165947745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagagcagcgtgcggatccCctttgctcctttgatcagac	9	10	10	12	2	1	3	1	1	0	2	3	4	3	4	3	1	4	2	3	1	1	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:165947745C>A	ENST00000360093.3	-	28	5409	c.4918G>T	c.(4918-4920)Ggg>Tgg	p.G1640W	SCN3A_ENST00000540861.1_Missense_Mutation_p.G123W|SCN3A_ENST00000409101.3_Missense_Mutation_p.G1591W|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.G1640W	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1640						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTGCGGATCCCCTTTGCTCCT	0.493													49	186					8.78508e-14	9.96587e-14	1	0	A	165947745	C	A	165947745	3	1	327	1	0	0	0	0	1	0	0	0	14005	623	22	4	1088	4	SCN3A	2	165947745	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	7805109	165947745	77251628	21	58064											
HOXD12	3238	broad.mit.edu	37	chr2	176964812	176964812	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagccaaagacggacccGaagagcaggctaagttctat	15	5	10	11	2	1	2	0	0	1	2	1	4	1	3	2	2	3	3	2	2	5	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:176964812G>T	ENST00000406506.2	+	1	355	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	HOXD12_ENST00000404162.2_Nonsense_Mutation_p.E95*			P35452	HXD12_HUMAN	homeobox D12	95						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AGACGGACCCGAAGAGCAGGC	0.711													20	10					2.37509e-13	2.67992e-13	1	0	T	176964812	G	T	176964812	4	4	327	1	0	0	0	0	0	1	0	0	7371	1059	37	3	285	3	HOXD12	2	176964812	Nonsense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	11017067	176964812	66234561	22	58065											
TTN	7273	broad.mit.edu	37	chr2	179588229	179588229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccccactctgagatatgtCaatattaaataattccagtt	13	15	4	9	0	2	1	1	1	1	1	4	2	4	1	3	0	0	1	3	0	6	7			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:179588229C>T	ENST00000589042.1	-	74	21822	c.21598G>A	c.(21598-21600)Gac>Aac	p.D7200N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D6883N|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D5956N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6883	Ig-like 54.						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)			TGAGATATGTCAATATTAAAT	0.443													37	21					0	0	0	0	T	179588229	C	T	179588229	3	4	327	1	0	0	0	0	1	0	0	0	16831	826	29	2	83087	2	TTN	2	179588229	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	2623417	179588229	63611144	23	58066											
PDE1A	5136	broad.mit.edu	37	chr2	183050726	183050726	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagggagtagtctggggaaTaggacccatcactcatggag	12	7	14	8	0	3	0	2	0	1	0	3	4	3	4	1	5	0	1	1	5	4	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:183050726T>A	ENST00000435564.1	-	13	1657	c.1457A>T	c.(1456-1458)tAt>tTt	p.Y486F	PDE1A_ENST00000351439.5_Missense_Mutation_p.Y470F|PDE1A_ENST00000346717.4_Missense_Mutation_p.Y452F|PDE1A_ENST00000331935.6_Missense_Mutation_p.Y486F|PDE1A_ENST00000456212.1_Missense_Mutation_p.Y486F|PDE1A_ENST00000410103.1_Missense_Mutation_p.Y486F|PDE1A_ENST00000409365.1_Missense_Mutation_p.Y470F|PDE1A_ENST00000358139.2_Missense_Mutation_p.Y486F|PDE1A_ENST00000536095.1_Missense_Mutation_p.Y382F	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	486	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GTCTGGGGAATAGGACCCATC	0.458													16	108					0	0	0	0	A	183050726	T	A	183050726	3	1	327	1	0	0	0	0	1	0	0	0	11704	1406	49	5	236	5	PDE1A	2	183050726	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08	3462497	183050726	60148647	24	58067											
SATB2	23314	broad.mit.edu	37	chr2	200298144	200298144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctaaaaagcacatctttcCgcaccaggacaaactcggcg	13	6	9	13	3	1	0	0	0	1	0	3	1	2	1	2	3	2	3	2	3	4	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:200298144C>T	ENST00000417098.1	-	3	1079	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	SATB2_ENST00000428695.1_Missense_Mutation_p.R88Q|SATB2_ENST00000457245.1_Missense_Mutation_p.R88Q|SATB2_ENST00000443023.1_Intron|SATB2_ENST00000260926.5_Missense_Mutation_p.R88Q	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	88						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACATCTTTCCGCACCAGGAC	0.537													16	250					0	0	0	0	T	200298144	C	T	200298144	3	4	327	1	0	0	0	0	1	0	0	0	13940	652	23	1	1974	1	SATB2	2	200298144	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	17247418	200298144	42901229	25	58068											
OR5K2	402135	broad.mit.edu	37	chr3	98216771	98216771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctattacccccaaaatgttaGagaacttcttttctgagggc	11	13	7	10	0	2	2	0	1	2	1	2	3	2	2	2	1	2	1	2	1	6	6			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:98216771G>C	ENST00000427338.1	+	1	324	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	CLDND1_ENST00000502288.1_3'UTR	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAAAATGTTAGAGAACTTCTT	0.428													52	335					0	0	0	0	C	98216771	G	C	98216771	3	2	327	1	0	0	0	0	1	0	0	0	11238	943	33	2	249	2	OR5K2	3	98216771	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08		98216771	99805659	26	58069											
IMPG2	50939	broad.mit.edu	37	chr3	100961637	100961637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caccgcattgttgacgttagGagggacagaattggcaaact	12	9	12	8	2	0	2	0	1	0	1	0	4	0	4	1	3	1	4	1	3	3	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:100961637G>A	ENST00000193391.7	-	14	3104	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	973	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTGACGTTAGGAGGGACAGAA	0.428													74	102					0	0	0	0	A	100961637	G	A	100961637	3	1	327	1	0	0	0	0	1	0	0	0	7782	1174	41	2	832	2	IMPG2	3	100961637	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	2744866	100961637	97060793	27	58070											
IGSF11	152404	broad.mit.edu	37	chr3	118621641	118621641	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagagaaagattggcccAagtcactgaagtggctgact	14	7	13	7	0	1	4	1	2	0	2	1	6	1	5	1	3	0	1	1	3	4	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:118621641A>C	ENST00000354673.2	-	9	1399	c.1019T>G	c.(1018-1020)tTg>tGg	p.L340W	IGSF11_ENST00000441144.2_Missense_Mutation_p.L316W|IGSF11_ENST00000425327.2_Missense_Mutation_p.L340W|IGSF11_ENST00000393775.2_Missense_Mutation_p.L341W|IGSF11_ENST00000491903.1_Missense_Mutation_p.L313W|IGSF11_ENST00000489689.1_Missense_Mutation_p.L317W	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	341					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGATTGGCCCAAGTCACTGAA	0.458													98	84					0	0	0	0	C	118621641	A	C	118621641	3	2	327	1	0	0	0	0	1	0	0	0	7651	131	5	5	277	5	IGSF11	3	118621641	Missense_Mutation	SNP	A	TCGA-CV-7446-01A-11D-2229-08	17660004	118621641	79400789	28	58071											
MBD4	8930	broad.mit.edu	37	chr3	129155826	129155826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttctgaagttaacatcatCaacaccctcatcttctttca	11	15	2	13	0	7	1	4	1	3	0	7	1	7	1	1	0	2	1	1	0	3	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:129155826C>G	ENST00000429544.2	-	3	856	c.661G>C	c.(661-663)Gat>Cat	p.D221H	MBD4_ENST00000507208.1_Missense_Mutation_p.D221H|MBD4_ENST00000249910.1_Missense_Mutation_p.D221H|MBD4_ENST00000503197.1_Missense_Mutation_p.D221H|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_Intron	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	221					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTAACATCATCAACACCCTCA	0.393								Base excision repair (BER), DNA glycosylases					41	152					0	0	0	0	G	129155826	C	G	129155826	3	3	327	1	0	0	0	0	1	0	0	0	9415	826	29	2	1105	2	MBD4	3	129155826	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	10534185	129155826	68866604	29	58072											
ESYT3	83850	broad.mit.edu	37	chr3	138191502	138191502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggttctgtgagcccatcGgggagaagaagagtccagcc	12	6	14	9	1	1	4	0	1	1	3	3	5	2	4	3	3	2	1	3	3	3	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:138191502G>A	ENST00000389567.4	+	18	2224	c.2038G>A	c.(2038-2040)Ggg>Agg	p.G680R		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	680						integral to membrane|plasma membrane		p.G680R(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGAGCCCATCGGGGAGAAGAA	0.597													110	126					0	0	0	0	A	138191502	G	A	138191502	3	1	327	1	0	0	0	0	1	0	0	0	5304	1116	39	1	2108	1	ESYT3	3	138191502	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	9035676	138191502	59830928	30	58073											
PRR23B	389151	broad.mit.edu	37	chr3	138738774	138738774	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcggcgagcgcgcgtgggGacctggactccccacgcacg	6	3	17	15	7	0	0	0	0	0	0	1	4	1	2	3	4	2	1	3	4	0	0			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:138738774G>T	ENST00000329447.5	-	1	994	c.730C>A	c.(730-732)Ccc>Acc	p.P244T	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	244	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCGCGTGGGGACCTGGACTC	0.657													18	116					2.35188e-11	2.55797e-11	1	0	T	138738774	G	T	138738774	3	4	327	1	0	0	0	0	1	0	0	0	12675	1174	41	2	71	2	PRR23B	3	138738774	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	547272	138738774	59283656	31	58074											
CLSTN2	64084	broad.mit.edu	37	chr3	140275400	140275400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctggtgatggaaggtgacGacattgggaacattaaccgt	11	10	13	7	2	0	2	0	2	0	0	1	5	1	4	2	4	2	0	2	4	3	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:140275400G>A	ENST00000458420.3	+	11	1910	c.1720G>A	c.(1720-1722)Gac>Aac	p.D574N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	574					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGAAGGTGACGACATTGGGAA	0.502										HNSCC(16;0.037)			46	302					0	0	0	0	A	140275400	G	A	140275400	3	1	327	1	0	0	0	0	1	0	0	0	3592	1058	37	1	1762	1	CLSTN2	3	140275400	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	1536626	140275400	57747030	32	58075											
ATR	545	broad.mit.edu	37	chr3	142277573	142277573	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatccatggaagtgagagcAtaccacataaatcttccagg	16	8	8	9	0	1	1	0	1	1	1	3	3	3	2	3	2	2	1	3	2	5	3	rs145459793		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:142277573A>T	ENST00000350721.4	-	8	1899	c.1778T>A	c.(1777-1779)aTg>aAg	p.M593K	ATR_ENST00000383101.3_Missense_Mutation_p.M529K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	593					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAGTGAGAGCATACCACATAA	0.333								Other conserved DNA damage response genes					178	286					0	0	0	0	T	142277573	A	T	142277573	3	4	327	1	0	0	0	0	1	0	0	0	1208	217	8	5	6316	5	ATR	3	142277573	Missense_Mutation	SNP	A	TCGA-CV-7446-01A-11D-2229-08	2002173	142277573	55744857	33	58076											
PLOD2	5352	broad.mit.edu	37	chr3	145795702	145795702	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaggggagtctttttcccTttgtaaagtctaaaatgaag	12	14	10	5	0	2	1	0	1	2	0	3	2	3	2	1	2	0	2	1	2	6	6			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:145795702T>A	ENST00000282903.5	-	14	1687	c.1510A>T	c.(1510-1512)Agg>Tgg	p.R504W	PLOD2_ENST00000461497.1_Missense_Mutation_p.R164W|PLOD2_ENST00000494950.1_Missense_Mutation_p.R449W|PLOD2_ENST00000360060.3_Intron|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	500					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCTTTTTCCCTTTGTAAAGTC	0.348													53	327					0	0	0	0	A	145795702	T	A	145795702	3	1	327	1	0	0	0	0	1	0	0	0	12174	1608	56	5	794	5	PLOD2	3	145795702	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08	3518129	145795702	52226728	34	58077											
PLCH1	23007	broad.mit.edu	37	chr3	155267708	155267708	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaatcttcctttgctgctgGatactgcagtgattctcgat	7	15	9	10	1	2	1	0	1	2	0	4	3	3	2	1	1	4	4	1	1	2	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:155267708G>A	ENST00000460012.1	-	10	1497	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	PLCH1_ENST00000414191.1_Silent_p.I380I|PLCH1_ENST00000340059.7_Silent_p.I398I|PLCH1_ENST00000447496.2_Silent_p.I398I|PLCH1_ENST00000494598.1_Silent_p.I398I|PLCH1_ENST00000334686.6_Silent_p.I380I			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	398	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGCTGCTGGATACTGCAGT	0.478													16	95					0	0	0	0	A	155267708	G	A	155267708	2	1	327	1	0	0	0	0	0	0	0	1	12109	1164	41	2		2	PLCH1	3	155267708	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	9472006	155267708	42754722	35	58078											
ZBBX	79740	broad.mit.edu	37	chr3	167077706	167077706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacatactttcccatttatCttgggtttttcacattctga	8	18	4	11	0	3	1	1	1	2	0	4	1	4	1	2	1	1	1	2	1	2	8			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:167077706C>G	ENST00000392766.2	-	8	724	c.384G>C	c.(382-384)aaG>aaC	p.K128N	ZBBX_ENST00000392764.1_Missense_Mutation_p.K99N|ZBBX_ENST00000392767.2_Missense_Mutation_p.K128N|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.K128N|ZBBX_ENST00000307529.5_Missense_Mutation_p.K128N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	128						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCCCATTTATCTTGGGTTTTT	0.303													12	72					0	0	0	0	G	167077706	C	G	167077706	3	3	327	1	0	0	0	0	1	0	0	0	17612	912	32	2	2074	2	ZBBX	3	167077706	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	11809998	167077706	30944724	36	58079											
MFI2	4241	broad.mit.edu	37	chr3	196743181	196743181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgaagagtagatccttCtggccataggcctcagagct	9	12	10	10	0	3	4	1	1	2	3	4	4	4	4	3	2	1	2	3	2	3	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:196743181C>A	ENST00000296350.5	-	8	1073	c.960G>T	c.(958-960)caG>caT	p.Q320H		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	320	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTAGATCCTTCTGGCCATAGG	0.582													20	394					1.50039e-11	1.64032e-11	1	0	A	196743181	C	A	196743181	3	1	327	1	0	0	0	0	1	0	0	0	9591	912	32	2	1292	2	MFI2	3	196743181	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	29665475	196743181	1279249	37	58080											
ENAM	10117	broad.mit.edu	37	chr4	71509442	71509442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttccttcacggaattcctggGaccacaggatacaagcccaa	12	8	8	13	1	1	0	1	0	0	0	3	3	3	3	4	3	2	0	4	3	4	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:71509442G>A	ENST00000396073.3	+	9	2580	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	767			D -> G (in dbSNP:rs3796705).		bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAATTCCTGGGACCACAGGAT	0.478													49	65					0	0	0	0	A	71509442	G	A	71509442	3	1	327	1	0	0	0	0	1	0	0	0	5150	1174	41	2	2329	2	ENAM	4	71509442	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08		71509442	119644834	38	58081											
GRID2	2895	broad.mit.edu	37	chr4	94159559	94159559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactggagagctagaatttgGagaaaatggaggcaatccca	15	7	13	6	0	0	3	0	0	0	3	1	7	1	4	1	4	1	2	1	4	5	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:94159559G>T	ENST00000282020.4	+	8	1421	c.1163G>T	c.(1162-1164)gGa>gTa	p.G388V	GRID2_ENST00000510992.1_Missense_Mutation_p.G293V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	388					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTAGAATTTGGAGAAAATGGA	0.383													41	44					2.35958e-20	2.79704e-20	1	0	T	94159559	G	T	94159559	3	4	327	1	0	0	0	0	1	0	0	0	6822	1174	41	2	1193	2	GRID2	4	94159559	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	22650117	94159559	96994717	39	58082											
HADH	3033	broad.mit.edu	37	chr4	108935733	108935733	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcaaaaggctggacaaGtttgctgctgagtatgtaac	11	12	10	8	0	2	1	1	1	1	0	2	2	2	2	0	2	3	6	0	2	5	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:108935733G>C	ENST00000505878.1	+	4	693	c.420G>C	c.(418-420)aaG>aaC	p.K140N	HADH_ENST00000403312.1_Missense_Mutation_p.K195N|HADH_ENST00000454409.2_Missense_Mutation_p.K140N|HADH_ENST00000309522.3_Missense_Mutation_p.K136N|HADH_ENST00000603302.1_Missense_Mutation_p.K136N			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	136					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	GGCTGGACAAGTTTGCTGCTG	0.383													29	163					0	0	0	0	C	108935733	G	C	108935733	3	2	327	1	0	0	0	0	1	0	0	0	6992	1020	36	4	418	4	HADH	4	108935733	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	14776174	108935733	82218543	40	58083											
EGF	1950	broad.mit.edu	37	chr4	110915984	110915984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccacgatgggtactgcCtccatgatggtgtgtgcatg	6	12	13	10	1	0	1	0	1	0	0	2	2	2	1	3	2	3	2	3	2	1	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:110915984C>T	ENST00000265171.5	+	20	3398	c.2953C>T	c.(2953-2955)Ctc>Ttc	p.L985F	EGF_ENST00000503392.1_Missense_Mutation_p.L944F|EGF_ENST00000509793.1_Missense_Mutation_p.L943F	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	985	EGF-like 9.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGGGTACTGCCTCCATGATGG	0.468													39	63					0	0	0	0	T	110915984	C	T	110915984	3	4	327	1	0	0	0	0	1	0	0	0	4998	681	24	4	3031	4	EGF	4	110915984	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	1980251	110915984	80238292	41	58084											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005838	118005838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcactaaagtaaaacaGgccgcacatgtgggaaagta	16	8	9	8	1	2	0	2	0	0	0	2	1	2	1	1	2	1	3	1	2	6	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:118005838G>T	ENST00000310754.4	-	1	898	c.712C>A	c.(712-714)Ctg>Atg	p.L238M		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	238	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AAGTAAAACAGGCCGCACATG	0.388													4	103					0.00909568	0.00922687	1	0	T	118005838	G	T	118005838	3	4	327	1	0	0	0	0	1	0	0	0	16547	991	35	4	401	4	TRAM1L1	4	118005838	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	7089854	118005838	73148438	42	58085											
NDST3	9348	broad.mit.edu	37	chr4	119148130	119148130	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttggtaataggaccccaGaaaactggtgagaacttttt	12	13	9	7	0	1	2	0	1	1	2	1	4	1	3	2	3	2	1	2	3	5	6			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:119148130G>C	ENST00000296499.5	+	8	2215	c.1812G>C	c.(1810-1812)caG>caC	p.Q604H	NDST3_ENST00000433996.2_Missense_Mutation_p.Q523H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	604	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TAGGACCCCAGAAAACTGGTG	0.363													15	64					0	0	0	0	C	119148130	G	C	119148130	3	2	327	1	0	0	0	0	1	0	0	0	10327	933	33	2	1838	2	NDST3	4	119148130	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	1142292	119148130	72006146	43	58086											
FAT4	79633	broad.mit.edu	37	chr4	126238326	126238326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccggtttttggcagttctCactaccaggcgggggtgcct	4	11	13	13	2	1	0	1	0	1	0	2	0	1	0	4	5	2	3	4	5	1	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:126238326C>T	ENST00000394329.3	+	1	773	c.760C>T	c.(760-762)Cac>Tac	p.H254Y		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	254	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGCAGTTCTCACTACCAGGC	0.627											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	50					0	0	0	0	T	126238326	C	T	126238326	3	4	327	1	0	0	0	0	1	0	0	0	5737	826	29	2	762	2	FAT4	4	126238326	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	7090196	126238326	64915950	44	58087											
SH3D19	152503	broad.mit.edu	37	chr4	152058967	152058967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgtatctatcttctccaGaagataaacaatttctccag	13	14	4	10	0	5	2	0	0	5	2	7	2	5	2	2	0	1	1	2	0	6	5			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:152058967G>A	ENST00000409598.4	-	14	2671	c.1504C>T	c.(1504-1506)Ctg>Ttg	p.L502L	SH3D19_ENST00000424281.1_Silent_p.L466L|SH3D19_ENST00000455740.1_Silent_p.L502L|SH3D19_ENST00000514152.1_Silent_p.L502L|SH3D19_ENST00000427414.2_Silent_p.L466L|SH3D19_ENST00000304527.4_Silent_p.L525L|SH3D19_ENST00000409252.2_Silent_p.L525L			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	525	SH3 2.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ATCTTCTCCAGAAGATAAACA	0.358													34	31					0	0	0	0	A	152058967	G	A	152058967	2	1	327	1	0	0	0	0	0	0	0	1	14336	933	33	2		2	SH3D19	4	152058967	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	25820641	152058967	39095309	45	58088											
FAT1	2195	broad.mit.edu	37	chr4	187518091	187518091	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgactaatcatcttacggcaGagaacaaacaccaccaccag	16	5	6	14	2	2	1	1	0	1	1	2	3	2	1	3	1	3	1	3	1	4	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:187518091G>C	ENST00000441802.2	-	25	12812	c.12603C>G	c.(12601-12603)ctC>ctG	p.L4201L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4201					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTTACGGCAGAGAACAAACA	0.468										HNSCC(5;0.00058)			29	97					0	0	0	0	C	187518091	G	C	187518091	2	2	327	1	0	0	0	0	0	0	0	1	5734	929	33	2		2	FAT1	4	187518091	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	35459124	187518091	3636185	46	58089											
FAT1	2195	broad.mit.edu	37	chr4	187554856	187554856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgagtgaggatagtggtGgttccatctgtagcctcgac	8	11	13	9	1	1	2	0	2	1	0	3	4	2	3	3	3	1	2	3	3	2	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:187554856G>A	ENST00000441802.2	-	7	4514	c.4305C>T	c.(4303-4305)acC>acT	p.T1435T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1435	Cadherin 12.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGATAGTGGTGGTTCCATCTG	0.473										HNSCC(5;0.00058)			73	77					0	0	0	0	A	187554856	G	A	187554856	2	1	327	1	0	0	0	0	0	0	0	1	5734	1335	47	4		4	FAT1	4	187554856	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	36765	187554856	3599420	47	58090											
TRIML1	339976	broad.mit.edu	37	chr4	189068236	189068236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatctccccaagccacctGgggacctgttctcactaata	10	9	8	14	0	2	0	1	0	2	0	4	2	2	2	5	3	1	1	5	3	4	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:189068236G>T	ENST00000332517.3	+	6	1257	c.1117G>T	c.(1117-1119)Ggg>Tgg	p.G373W	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	373	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAAGCCACCTGGGGACCTGTT	0.522													24	73					2.39556e-15	2.77728e-15	1	0	T	189068236	G	T	189068236	3	4	327	1	0	0	0	0	1	0	0	0	16645	1348	47	4	1139	4	TRIML1	4	189068236	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	1513380	189068236	2086040	48	58091											
CDH12	1010	broad.mit.edu	37	chr5	21755799	21755799	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attacaagacaggatggtgcCatcagagtcacatctacaga	15	8	9	9	0	3	3	2	0	1	3	3	4	3	4	1	2	3	0	1	2	3	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:21755799C>A	ENST00000382254.1	-	14	2872	c.1786G>T	c.(1786-1788)Ggc>Tgc	p.G596C	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.G556C|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.G596C	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	596	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGGATGGTGCCATCAGAGTCA	0.433										HNSCC(59;0.17)			49	58					2.64514e-33	3.22615e-33	1	0	A	21755799	C	A	21755799	3	1	327	1	0	0	0	0	1	0	0	0	3127	594	21	4	606	4	CDH12	5	21755799	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08		21755799	159159461	49	58092											
CDH10	1008	broad.mit.edu	37	chr5	24487861	24487861	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggaggtaatcgtagttttGgtctccttcagtagtacctg	7	15	11	8	2	2	0	1	0	1	0	5	1	2	1	2	3	1	5	2	3	4	7			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:24487861G>A	ENST00000264463.4	-	12	2785	c.2278C>T	c.(2278-2280)Caa>Taa	p.Q760*	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	760					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCGTAGTTTTGGTCTCCTTCA	0.448										HNSCC(23;0.051)			97	138					0	0	0	0	A	24487861	G	A	24487861	4	1	327	1	0	0	0	0	0	1	0	0	3125	1357	47	4	92	4	CDH10	5	24487861	Nonsense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	2732062	24487861	156427399	50	58093											
SPEF2	79925	broad.mit.edu	37	chr5	35763640	35763640	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagaattcctctagttcctCgaatatccatttctctggaa	12	14	5	10	1	2	1	0	0	2	1	7	3	5	2	3	1	0	1	3	1	6	5			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:35763640C>T	ENST00000440995.2	+	26	3622	c.3622C>T	c.(3622-3624)Cga>Tga	p.R1208*	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.R1213*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1213					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTAGTTCCTCGAATATCCAT	0.333													27	35					0	0	0	0	T	35763640	C	T	35763640	4	4	327	1	0	0	0	0	0	1	0	0	15125	876	31	1	3760	1	SPEF2	5	35763640	Nonsense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	11275779	35763640	145151620	51	58094											
C5orf42	65250	broad.mit.edu	37	chr5	37169105	37169105	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggcttaacatcaaataGtttttctggttttataaaca	12	16	5	8	0	2	0	1	0	1	0	2	0	2	0	1	2	2	3	1	2	6	7			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:37169105G>A	ENST00000274258.7	-	34	7248	c.3661C>T	c.(3661-3663)Cta>Tta	p.L1221L	C5orf42_ENST00000425232.2_Silent_p.L2341L|C5orf42_ENST00000508244.1_Silent_p.L2341L			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2341										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)			ACATCAAATAGTTTTTCTGGT	0.373													79	92					0	0	0	0	A	37169105	G	A	37169105	2	1	327	1	0	0	0	0	0	0	0	1	2322	1020	36	4		4	C5orf42	5	37169105	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	1405465	37169105	143746155	52	58095											
PCDHA9	9752	broad.mit.edu	37	chr5	140228540	140228540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttgactctcggtttccaCtagagggcgcgtccgatgca	6	10	12	13	5	1	2	0	1	1	1	4	3	3	2	2	2	1	3	2	2	1	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:140228540C>G	ENST00000378122.3	+	1	1184	c.460C>G	c.(460-462)Cta>Gta	p.L154V	PCDHA9_ENST00000532602.1_Missense_Mutation_p.L154V|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTTTCCACTAGAGGGCGC	0.547													7	22					0	0	0	0	G	140228540	C	G	140228540	3	3	327	1	0	0	0	0	1	0	0	0	11602	564	20	4	462	4	PCDHA9	5	140228540	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	103059435	140228540	40686720	53	58096											
PCDHB16	57717	broad.mit.edu	37	chr5	140562231	140562231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgggcgccgagttggggtccTattccgtagtggaagaaacg	8	8	16	9	5	0	1	0	0	0	1	2	3	2	2	3	4	1	2	3	4	4	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:140562231T>C	ENST00000361016.2	+	1	1252	c.97T>C	c.(97-99)Tat>Cat	p.Y33H		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		33					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTGGGGTCCTATTCCGTAGT	0.522													55	90					0	0	0	0	C	140562231	T	C	140562231	3	2	327	1	0	0	0	0	1	0	0	0	11612	1522	53	5	99	5	PCDHB16	5	140562231	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08	333691	140562231	40353029	54	58097											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171766188	171766188	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctggttttggcctaacctGaggtctggacttcaagaagg	9	11	13	8	0	2	2	1	1	1	1	2	3	2	3	2	5	2	2	2	5	3	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:171766188G>C	ENST00000311601.5	-	13	2091	c.1921C>G	c.(1921-1923)Cag>Gag	p.Q641E	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	641					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGCCTAACCTGAGGTCTGGAC	0.562													71	22					0	0	0	0	C	171766188	G	C	171766188	3	2	327	1	0	0	0	0	1	0	0	0	14345	1299	45	2	818	2	SH3PXD2B	5	171766188	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	31203957	171766188	9149072	55	58098											
TFAP2A	7020	broad.mit.edu	37	chr6	10398701	10398701	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttggcgttgttgtccgtGtggctgttggggttgttgct	0	19	16	6	2	0	0	0	0	0	0	1	0	1	0	1	4	1	7	1	4	0	7			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:10398701G>A	ENST00000379613.3	-	7	1525	c.1269C>T	c.(1267-1269)caC>caT	p.H423H	TFAP2A_ENST00000482890.1_Silent_p.H421H|TFAP2A_ENST00000319516.4_Silent_p.H417H|TFAP2A_ENST00000379608.3_Silent_p.H415H|TFAP2A_ENST00000379604.2_Silent_p.H421H			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	421					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TGTTGTCCGTGTGGCTGTTGG	0.637													395	128					0	0	0	0	A	10398701	G	A	10398701	2	1	327	1	0	0	0	0	0	0	0	1	15881	1368	48	4		4	TFAP2A	6	10398701	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08		10398701	160716366	56	58099											
OR12D2	26529	broad.mit.edu	37	chr6	29364878	29364878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcgctacactgtcatcatGaaccctcagctctgtaccca	9	11	5	16	1	4	1	3	1	1	0	5	1	4	1	2	0	4	3	2	0	3	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:29364878G>A	ENST00000383555.2	+	1	463	c.402G>A	c.(400-402)atG>atA	p.M134I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTGTCATCATGAACCCTCAGC	0.522													63	51					0	0	0	0	A	29364878	G	A	29364878	3	1	327	1	0	0	0	0	1	0	0	0	11002	1290	45	2	404	2	OR12D2	6	29364878	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	18966177	29364878	141750189	57	58100											
NRM	11270	broad.mit.edu	37	chr6	30658718	30658718	+	Frame_Shift_Del	DEL	G	G	-																															ggccaggatgaaagaggcgaGggcagcagggatcaggagca																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:30658718delG	ENST00000259953.4	-	2	385	c.34delC	c.(34-36)tcfs	p.L12fs	NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376420.5_Frame_Shift_Del_p.L12fs|NRM_ENST00000376421.5_Frame_Shift_Del_p.L12fs	NM_001270707.1	NP_001257636.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	12						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						AAAGAGGCGAGGGCAGCAGGG	0.672													17	42	---	---	---	---					-	30658718	G	-	30658718	7	5	327	1	0	1	0	1	0	0	0	0	10728	1000	35	0	770	0	NRM	6	30658718	Frame_Shift_Del	DEL	G	TCGA-CV-7446-01A-11D-2229-08	1293840	30658718	140456349	58	58101											
FLOT1	10211	broad.mit.edu	37	chr6	30698343	30698343	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctcagcttccccacgcatCtgagggttaaggatgcttgt	7	11	11	12	1	2	1	1	1	1	0	3	2	3	2	3	2	2	4	3	2	1	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:30698343C>G	ENST00000376389.3	-	11	1172		c.e11-1		FLOT1_ENST00000456573.2_Splice_Site	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1							centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CCCCACGCATCTGAGGGTTAA	0.562													65	163					0	0	0	0	G	30698343	C	G	30698343	5	3	327	1	0	0	0	0	0	0	1	0	5981	927	32	2	344	2	FLOT1	6	30698343	Splice_Site	SNP	C	TCGA-CV-7446-01A-11D-2229-08	39625	30698343	140416724	59	58102											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-57)gaafs	p.E19fs	STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													9	252	---	---	---	---					A	31939830	-	A	31939829	7	5	327	1	0	1	1	0	0	0	0	0	15382	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-CV-7446-01A-11D-2229-08	1241486	31939829	139175238	60	58103											
MUT	4594	broad.mit.edu	37	chr6	49408029	49408029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catttttgctacaagaagacGaggtctgcgaccttcacgtt	10	12	9	10	3	2	2	1	0	1	2	2	4	2	2	1	1	3	2	1	1	3	5			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:49408029G>A	ENST00000274813.3	-	11	1973	c.1846C>T	c.(1846-1848)Cgt>Tgt	p.R616C		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	616	B12-binding.		R -> C (in MMAM; mut0).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAAGAAGACGAGGTCTGCGA	0.378													29	68					0	0	0	0	A	49408029	G	A	49408029	3	1	327	1	0	0	0	0	1	0	0	0	10061	1058	37	1	418	1	MUT	6	49408029	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	17468200	49408029	121707038	61	58104											
CASP8AP2	9994	broad.mit.edu	37	chr6	90572112	90572146	+	RNA	DEL	ACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAA	ACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAA	-																															tgcactaatggtgtttggtcAcgttctcattatcaggttgg																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:90572112_90572146delACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAA	ENST00000551025.1	+	0	2121_2155							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GTGTTTGGTCACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAAATGAGGATAG	0.404													8	224	---	---	---	---					-	90572146	ACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAA	-	90572112	6	5	327	0	1	1	0	1	0	0	0	0	2703	146	6	0		0	CASP8AP2	6	90572112	RNA	DEL	ACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAA	TCGA-CV-7446-01A-11D-2229-08	41164083	90572112	80542955	62	58105											
SLC35F1	222553	broad.mit.edu	37	chr6	118475693	118475693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcaagtatctgtcagaaGatttccacgccaacacacca	14	8	6	13	1	2	2	1	0	1	2	3	2	3	2	3	0	2	2	3	0	5	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:118475693G>T	ENST00000360388.4	+	2	460	c.259G>T	c.(259-261)Gat>Tat	p.D87Y		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	87					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTGTCAGAAGATTTCCACGC	0.453													104	32					7.08676e-66	8.84797e-66	1	0	T	118475693	G	T	118475693	3	4	327	1	0	0	0	0	1	0	0	0	14676	942	33	2	265	2	SLC35F1	6	118475693	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	27903581	118475693	52639374	63	58106											
SYNE1	23345	broad.mit.edu	37	chr6	152510425	152510425	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactgcctttgcagaagctCtacgcgttcattaagaatgg	10	11	9	11	2	2	2	1	0	1	2	2	2	2	2	2	1	4	3	2	1	4	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:152510425C>G	ENST00000367255.5	-	128	23864	c.23263G>C	c.(23263-23265)Gag>Cag	p.E7755Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.E7367Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2279Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E7755Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E7684Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E7684Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7755					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCAGAAGCTCTACGCGTTCA	0.438										HNSCC(10;0.0054)			32	79					0	0	0	0	G	152510425	C	G	152510425	3	3	327	1	0	0	0	0	1	0	0	0	15536	922	32	2	3279	2	SYNE1	6	152510425	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	34034732	152510425	18604642	64	58107											
SOD2	6648	broad.mit.edu	37	chr6	160113793	160113793	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgcatgatctgcgcgttGatgtgaggttccagggcgcc	6	10	15	10	3	1	3	0	3	1	0	2	3	2	3	2	2	3	4	2	2	0	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:160113793G>A	ENST00000538183.1	-	2	286	c.126C>T	c.(124-126)atC>atT	p.I42I	SOD2_ENST00000452684.2_Silent_p.I42I|SOD2_ENST00000337404.4_Silent_p.I42I|SOD2_ENST00000367055.4_Silent_p.I42I|SOD2_ENST00000367054.2_Silent_p.I42I|SOD2_ENST00000546087.1_5'UTR|SOD2_ENST00000444946.2_Silent_p.I42I	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	42					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		TCTGCGCGTTGATGTGAGGTT	0.627													19	37					0	0	0	0	A	160113793	G	A	160113793	2	1	327	1	0	0	0	0	0	0	0	1	15009	1280	45	2		2	SOD2	6	160113793	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	7603368	160113793	11001274	65	58108											
IGF2R	3482	broad.mit.edu	37	chr6	160430063	160430063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgactctgttttgagaagtgCaaccagatctctcctggaat	10	13	9	9	0	2	3	0	2	2	2	4	5	3	4	2	1	2	2	2	1	3	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:160430063C>A	ENST00000356956.1	+	3	459	c.311C>A	c.(310-312)gCa>gAa	p.A104E		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	104					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTGAGAAGTGCAACCAGATCT	0.428													48	44					2.69774e-35	3.3288e-35	1	0	A	160430063	C	A	160430063	3	1	327	1	0	0	0	0	1	0	0	0	7629	710	25	4	321	4	IGF2R	6	160430063	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	316270	160430063	10685004	66	58109											
SDK1	221935	broad.mit.edu	37	chr7	4153692	4153692	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccggattctcagtacaaCgggaaccccgagtccgtggg	8	7	13	13	4	1	0	1	0	1	0	3	3	2	2	4	3	4	1	4	3	3	2	rs138943707		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:4153692C>T	ENST00000404826.2	+	25	3748	c.3609C>T	c.(3607-3609)aaC>aaT	p.N1203N	SDK1_ENST00000389531.3_Silent_p.N1203N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1203	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.N1203N(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCAGTACAACGGGAACCCCG	0.592													19	34					0	0	0	0	T	4153692	C	T	4153692	2	4	327	1	0	0	0	0	0	0	0	1	14055	535	19	1		1	SDK1	7	4153692	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08		4153692	154984971	67	58110											
ZDHHC4	55146	broad.mit.edu	37	chr7	6628477	6628477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattcactcccatgggcttcGgagcaaccttcaagagatct	10	10	8	13	1	3	1	2	0	1	1	5	3	4	2	2	2	2	2	2	2	2	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:6628477G>A	ENST00000396706.2	+	8	1414	c.971G>A	c.(970-972)cGg>cAg	p.R324Q	ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R324Q|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R324Q|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R324Q|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R324Q|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R324Q			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	324						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CATGGGCTTCGGAGCAACCTT	0.537													34	147					0	0	0	0	A	6628477	G	A	6628477	3	1	327	1	0	0	0	0	1	0	0	0	17712	1116	39	1	993	1	ZDHHC4	7	6628477	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	2474785	6628477	152510186	68	58111											
HECW1	23072	broad.mit.edu	37	chr7	43519258	43519258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccactttcattgacccccGaatccctcttcagaacggtc	9	11	5	16	2	3	2	2	1	1	1	5	3	4	2	4	1	2	0	4	1	3	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:43519258G>A	ENST00000395891.1	+	17	3754	c.3149G>A	c.(3148-3150)cGa>cAa	p.R1050Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R1016Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1050	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATTGACCCCCGAATCCCTCTT	0.517													99	91					0	0	0	0	A	43519258	G	A	43519258	3	1	327	1	0	0	0	0	1	0	0	0	7092	1058	37	1	3207	1	HECW1	7	43519258	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	36890781	43519258	115619405	69	58112											
ZNF479	90827	broad.mit.edu	37	chr7	57187795	57187795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggataagctaaaggctttgcCacattcttcacatttgtagg	11	13	9	8	0	2	0	1	0	1	0	2	1	2	1	1	3	2	3	1	3	4	7			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:57187795C>T	ENST00000331162.4	-	5	1597	c.1327G>A	c.(1327-1329)Ggc>Agc	p.G443S		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AAGGCTTTGCCACATTCTTCA	0.433													25	71					0	0	0	0	T	57187795	C	T	57187795	3	4	327	1	0	0	0	0	1	0	0	0	18028	594	21	4	251	4	ZNF479	7	57187795	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	13668537	57187795	101950868	70	58113											
RELN	5649	broad.mit.edu	37	chr7	103243886	103243886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgacataattgtggaCggaagggcagcttctgggtg	11	10	14	6	1	2	1	0	1	2	0	2	3	2	3	0	4	1	2	0	4	3	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:103243886C>T	ENST00000428762.1	-	24	3357	c.3198G>A	c.(3196-3198)ccG>ccA	p.P1066P	RELN_ENST00000343529.5_Silent_p.P1066P|RELN_ENST00000424685.2_Silent_p.P1066P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1066					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAATTGTGGACGGAAGGGCAG	0.517													47	50					0	0	0	0	T	103243886	C	T	103243886	2	4	327	1	0	0	0	0	0	0	0	1	13302	523	19	1		1	RELN	7	103243886	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08	46056091	103243886	55894777	71	58114											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519400	113519400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatttgtccttggtgaatGagacacatctgctgtgattg	10	15	10	6	0	1	3	0	3	1	1	2	4	2	3	1	1	1	1	1	1	3	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:113519400G>A	ENST00000284601.3	-	4	1815	c.1747C>T	c.(1747-1749)Cat>Tat	p.H583Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	583					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTGGTGAATGAGACACATCT	0.488													71	63					0	0	0	0	A	113519400	G	A	113519400	3	1	327	1	0	0	0	0	1	0	0	0	12447	1290	45	2	1625	2	PPP1R3A	7	113519400	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	10275514	113519400	45619263	72	58115											
ZNF800	168850	broad.mit.edu	37	chr7	127015049	127015049	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatggcttctaggagatcaTttatggcttggctttgttta	8	18	10	5	0	2	1	1	0	1	1	2	2	2	1	0	4	0	4	0	4	4	9			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:127015049T>A	ENST00000393313.1	-	5	932	c.341A>T	c.(340-342)aAt>aTt	p.N114I	ZNF800_ENST00000265827.3_Missense_Mutation_p.N114I|ZNF800_ENST00000393312.1_Missense_Mutation_p.N114I			Q2TB10	ZN800_HUMAN	zinc finger protein 800	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TAGGAGATCATTTATGGCTTG	0.323													4	75					0	0	0	0	A	127015049	T	A	127015049	3	1	327	1	0	0	0	0	1	0	0	0	18262	1493	52	5	1661	5	ZNF800	7	127015049	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08	13495649	127015049	32123614	73	58116											
MGAM	8972	broad.mit.edu	37	chr7	141764209	141764209	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtccagggacaggggcctGagcagcaagaccctttgtat	10	7	14	10	0	0	2	0	1	0	1	1	4	1	3	3	3	2	3	3	3	2	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:141764209G>C	ENST00000475668.2	+	37	4425	c.4371G>C	c.(4369-4371)ctG>ctC	p.L1457L	MGAM_ENST00000549489.2_Silent_p.L1457L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1457	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACAGGGGCCTGAGCAGCAAGA	0.567													8	9					0	0	0	0	C	141764209	G	C	141764209	2	2	327	1	0	0	0	0	0	0	0	1	9610	1277	45	2		2	MGAM	7	141764209	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	14749160	141764209	17374454	74	58117											
PRSS1	5644	broad.mit.edu	37	chr7	142458443	142458443	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgatgacaagatcgttggGggctacaactgtgaggagaa	13	8	15	5	1	0	5	0	3	0	2	1	7	0	5	0	3	2	2	0	3	4	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:142458443G>T	ENST00000486171.1	+	2	95	c.78G>T	c.(76-78)ggG>ggT	p.G26G	PRSS1_ENST00000311737.7_Silent_p.G26G			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	26	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGATCGTTGGGGGCTACAACT	0.542													8	304					2.68362e-12	2.996e-12	1	0	T	142458443	G	T	142458443	2	4	327	1	0	0	0	0	0	0	0	1	12693	1219	43	4		4	PRSS1	7	142458443	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	694234	142458443	16680220	75	58118											
PDGFRL	5157	broad.mit.edu	37	chr8	17491707	17491707	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggagttcacctggatCttcccagggcagaaggtaag	10	8	15	8	0	2	1	1	0	1	1	3	4	3	3	2	5	0	3	2	5	2	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:17491707C>A	ENST00000541323.1	+	6	1369	c.924C>A	c.(922-924)atC>atA	p.I308I	PDGFRL_ENST00000251630.6_Silent_p.I308I|PDGFRL_ENST00000398074.3_Silent_p.I308I|PDGFRL_ENST00000523248.1_3'UTR	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	308	Ig-like C2-type 2.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		TCACCTGGATCTTCCCAGGGC	0.547													26	63					1.42536e-11	1.56641e-11	1	0	A	17491707	C	A	17491707	2	1	327	1	0	0	0	0	0	0	0	1	11734	903	32	2		2	PDGFRL	8	17491707	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08		17491707	128872315	76	58119											
SLC25A37	51312	broad.mit.edu	37	chr8	23429090	23429090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgggctggccggggccCtcgccgcggccgccacgacc	3	2	17	19	7	0	0	0	0	0	0	1	1	0	0	6	6	0	1	6	6	0	0			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:23429090C>T	ENST00000519973.1	+	4	937	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	247					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GGCCGGGGCCCTCGCCGCGGC	0.652													13	16					0	0	0	0	T	23429090	C	T	23429090	3	4	327	1	0	0	0	0	1	0	0	0	14589	681	24	4	753	4	SLC25A37	8	23429090	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	5937383	23429090	122934932	77	58120											
UNC5D	137970	broad.mit.edu	37	chr8	35541166	35541166	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaggcaggcacggctctcGgactcaggaaattacacctg	11	7	11	12	2	3	0	2	0	1	0	4	2	3	2	1	5	1	3	1	5	2	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:35541166G>T	ENST00000287272.2	+	5	692	c.672G>T	c.(670-672)tcG>tcT	p.S224S	UNC5D_ENST00000453357.2_Silent_p.S219S|UNC5D_ENST00000420357.1_Silent_p.S224S|UNC5D_ENST00000416672.1_Silent_p.S224S|UNC5D_ENST00000404895.2_Silent_p.S224S			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	224	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CACGGCTCTCGGACTCAGGAA	0.517													15	35					0.00498961	0.00508603	1	0	T	35541166	G	T	35541166	2	4	327	1	0	0	0	0	0	0	0	1	17091	1103	39	3		3	UNC5D	8	35541166	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	12112076	35541166	110822856	78	58121											
PRKDC	5591	broad.mit.edu	37	chr8	48809798	48809798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggggcctcccacaatgaGctaaaagccacttgaccaga	12	7	9	13	0	1	3	0	2	1	1	2	3	2	3	4	2	2	1	4	2	3	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:48809798G>C	ENST00000314191.2	-	30	3577	c.3521C>G	c.(3520-3522)gCt>gGt	p.A1174G	PRKDC_ENST00000338368.3_Missense_Mutation_p.A1174G|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1174					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCCACAATGAGCTAAAAGCCA	0.423								Non-homologous end-joining					131	102					0	0	0	0	C	48809798	G	C	48809798	3	2	327	1	0	0	0	0	1	0	0	0	12601	971	34	4	9092	4	PRKDC	8	48809798	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	13268632	48809798	97554224	79	58122											
WWP1	11059	broad.mit.edu	37	chr8	87393860	87393860	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatacacaatagaaaatgTaagttttttgttctgacctt	13	17	6	5	0	1	3	0	2	1	1	1	3	1	3	1	0	1	3	1	0	6	9			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:87393860T>A	ENST00000517970.1	+	5	641		c.e5+2		WWP1_ENST00000265428.4_Splice_Site|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000523863.1_Splice_Site|WWP1_ENST00000341922.2_Splice_Site	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1						central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ATAGAAAATGTAAGTTTTTTG	0.299													16	20					0	0	0	0	A	87393860	T	A	87393860	5	1	327	1	0	0	0	0	0	0	1	0	17511	1652	57	5	346	5	WWP1	8	87393860	Splice_Site	SNP	T	TCGA-CV-7446-01A-11D-2229-08	38584062	87393860	58970162	80	58123											
CALB1	793	broad.mit.edu	37	chr8	91081457	91081457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttctgtgggtaatacGtgagccaactggaaaagatt	11	13	10	7	1	2	2	0	1	2	1	3	3	2	3	1	2	3	1	1	2	5	5			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:91081457G>T	ENST00000265431.3	-	4	421	c.240C>A	c.(238-240)caC>caA	p.H80Q	CALB1_ENST00000518457.1_Missense_Mutation_p.H23Q	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	80	EF-hand 2.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGGGTAATACGTGAGCCAACT	0.428													36	38					1.04594e-18	1.22607e-18	1	0	T	91081457	G	T	91081457	3	4	327	1	0	0	0	0	1	0	0	0	2598	1136	40	3	577	3	CALB1	8	91081457	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	3687597	91081457	55282565	81	58124											
GRHL2	79977	broad.mit.edu	37	chr8	102555627	102555627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaatggtgatgaggacaGtgctgctgccctcggcctgc	7	10	13	11	1	0	2	0	2	0	0	1	3	0	3	2	3	4	2	2	3	1	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:102555627G>A	ENST00000251808.3	+	2	517	c.179G>A	c.(178-180)aGt>aAt	p.S60N	GRHL2_ENST00000395927.1_Missense_Mutation_p.S44N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	60	Transcription activation.					cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GATGAGGACAGTGCTGCTGCC	0.537													57	105					0	0	0	0	A	102555627	G	A	102555627	3	1	327	1	0	0	0	0	1	0	0	0	6814	1029	36	4	185	4	GRHL2	8	102555627	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	11474170	102555627	43808395	82	58125											
OXR1	55074	broad.mit.edu	37	chr8	107719385	107719385	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatagaaagtaagtgttatAgagtaaatgaagttagttca	18	12	9	2	0	1	3	1	1	0	2	1	3	1	3	0	0	0	5	0	0	9	7			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:107719385A>G	ENST00000497705.1	+	7	1474	c.1435A>G	c.(1435-1437)Aga>Gga	p.R479G	OXR1_ENST00000531443.1_Intron|OXR1_ENST00000445937.1_Intron|OXR1_ENST00000452423.2_Intron|OXR1_ENST00000312046.6_Intron|OXR1_ENST00000517566.2_Intron|OXR1_ENST00000442977.2_Intron			Q8N573	OXR1_HUMAN	oxidation resistance 1	0					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TAAGTGTTATAGAGTAAATGA	0.378													23	33					0	0	0	0	G	107719385	A	G	107719385	3	3	327	1	0	0	0	0	1	0	0	0	11405	435	15	5		5	OXR1	8	107719385	Missense_Mutation	SNP	A	TCGA-CV-7446-01A-11D-2229-08	5163758	107719385	38644637	83	58126											
CSMD3	114788	broad.mit.edu	37	chr8	113256656	113256656	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttttccagtccaggtgtTatcggatctacacactctat	10	14	6	11	1	2	0	0	0	2	0	5	1	4	1	2	2	2	1	2	2	4	5			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:113256656T>C	ENST00000297405.5	-	65	10613	c.10369A>G	c.(10369-10371)Aac>Gac	p.N3457D	CSMD3_ENST00000343508.3_Missense_Mutation_p.N3417D|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3288D|CSMD3_ENST00000352409.3_Missense_Mutation_p.N3387D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3457	Sushi 28.					integral to membrane|plasma membrane		p.N3417Y(1)|p.N3457Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCCAGGTGTTATCGGATCTA	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	124					0	0	0	0	C	113256656	T	C	113256656	3	2	327	1	0	0	0	0	1	0	0	0	3978	1754	61	5	782	5	CSMD3	8	113256656	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08	5537271	113256656	33107366	84	58127											
COL14A1	7373	broad.mit.edu	37	chr8	121170426	121170426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgacagtatacagatttCatggaaggctccaagaggga	14	9	11	7	0	2	3	2	1	0	2	3	5	3	5	1	3	1	2	1	3	4	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:121170426C>T	ENST00000297848.3	+	3	416	c.146C>T	c.(145-147)tCa>tTa	p.S49L	COL14A1_ENST00000537875.1_Missense_Mutation_p.S49L|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.S49L|COL14A1_ENST00000247781.3_Missense_Mutation_p.S49L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	49	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATACAGATTTCATGGAAGGCT	0.348													19	77					0	0	0	0	T	121170426	C	T	121170426	3	4	327	1	0	0	0	0	1	0	0	0	3701	838	29	2	152	2	COL14A1	8	121170426	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	7913770	121170426	25193596	85	58128											
FAM49B	51571	broad.mit.edu	37	chr8	130859080	130859080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagaagaccttccacactaTtaggaggttggtccttaaga	12	12	9	8	0	0	3	0	0	0	3	2	4	2	4	3	3	0	1	3	3	5	6			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:130859080T>C	ENST00000519824.2	-	11	1154	c.881A>G	c.(880-882)aAt>aGt	p.N294S	FAM49B_ENST00000522746.1_Missense_Mutation_p.N294S|FAM49B_ENST00000401979.2_Missense_Mutation_p.N294S|FAM49B_ENST00000519540.1_Missense_Mutation_p.N294S|FAM49B_ENST00000517654.1_Missense_Mutation_p.N294S|FAM49B_ENST00000519110.1_Missense_Mutation_p.N294S|FAM49B_ENST00000523509.1_Missense_Mutation_p.N294S|FAM49B_ENST00000522941.1_Missense_Mutation_p.N148S|FAM49B_ENST00000522250.1_Missense_Mutation_p.N148S	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	294										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TTCCACACTATTAGGAGGTTG	0.333													10	29					0	0	0	0	C	130859080	T	C	130859080	3	2	327	1	0	0	0	0	1	0	0	0	5623	1493	52	5	101	5	FAM49B	8	130859080	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08	9688654	130859080	15504942	86	58129											
ZFAT	57623	broad.mit.edu	37	chr8	135533180	135533180	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaagccatgtttgttcttCaagtgcctattgaactccca	9	15	6	11	0	3	1	2	1	1	0	4	1	4	1	3	0	3	2	3	0	4	6			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:135533180C>T	ENST00000520727.1	-	14	3443	c.3144G>A	c.(3142-3144)ttG>ttA	p.L1048L	ZFAT_ENST00000429442.2_Silent_p.L1048L|ZFAT_ENST00000520214.1_Silent_p.L1048L|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000523399.1_Silent_p.L998L|ZFAT_ENST00000377838.3_Silent_p.L1060L|ZFAT_ENST00000520356.1_Silent_p.L1048L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTTTGTTCTTCAAGTGCCTAT	0.388													12	77					0	0	0	0	T	135533180	C	T	135533180	2	4	327	1	0	0	0	0	0	0	0	1	17727	825	29	2		2	ZFAT	8	135533180	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08	4674100	135533180	10830842	87	58130											
COL22A1	169044	broad.mit.edu	37	chr8	139890006	139890007	+	Frame_Shift_Del	DEL	GC	GC	-																															cactcactttcacaaagacgGcgccgcagcttgccccggat																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:139890006_139890007delGC	ENST00000303045.6	-	3	1090_1091	c.644_645delGC	c.(643-645)cfs	p.R216fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.R216fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	216					cell adhesion	collagen|cytoplasm	structural molecule activity	p.R215H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CACAAAGACGGCGCCGCAGCTT	0.653										HNSCC(7;0.00092)			52	79	---	---	---	---					-	139890007	GC	-	139890006	7	5	327	1	0	1	0	1	0	0	0	0	3711	1190	42	0	4487	0	COL22A1	8	139890006	Frame_Shift_Del	DEL	GC	TCGA-CV-7446-01A-11D-2229-08	4356826	139890006	6474016	88	58131											
SYK	6850	broad.mit.edu	37	chr9	93636555	93636555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtatgagccagaacttgcaCcctgggctgcagacaaaggt	11	7	12	11	1	0	3	0	1	0	2	0	3	0	3	2	2	4	4	2	2	3	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr9:93636555C>T	ENST00000375754.4	+	8	1133	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	SYK_ENST00000375747.1_Missense_Mutation_p.P306S|SYK_ENST00000375751.4_Missense_Mutation_p.P306S|SYK_ENST00000375746.1_Missense_Mutation_p.P329S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	329	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AGAACTTGCACCCTGGGCTGC	0.473			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								19	33					0	0	0	0	T	93636555	C	T	93636555	3	4	327	1	0	0	0	0	1	0	0	0	15529	507	18	4	1011	4	SYK	9	93636555	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08		93636555	47576876	89	58132											
TEX10	54881	broad.mit.edu	37	chr9	103109424	103109424	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcagtaatgtgagtcaTggcactagagagatgggcac	11	10	12	8	0	2	3	2	1	0	2	3	4	3	3	1	2	0	3	1	2	2	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr9:103109424T>C	ENST00000374902.4	-	3	621	c.445A>G	c.(445-447)Atg>Gtg	p.M149V	TEX10_ENST00000537512.1_Missense_Mutation_p.M84V|TEX10_ENST00000535814.1_Missense_Mutation_p.M152V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	149						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATGTGAGTCATGGCACTAGAG	0.423													70	40					0	0	0	0	C	103109424	T	C	103109424	3	2	327	1	0	0	0	0	1	0	0	0	15866	1464	51	5	2396	5	TEX10	9	103109424	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08	9472869	103109424	38104007	90	58133											
SLC39A12	221074	broad.mit.edu	37	chr10	18276472	18276472	+	Frame_Shift_Del	DEL	G	G	-																															tccatgctggggacagcgctGgtccttttccatagctgtga																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:18276472delG	ENST00000377369.2	+	7	1434	c.1161delG	c.(1159-1161)ctfs	p.L387fs	SLC39A12_ENST00000377371.3_Frame_Shift_Del_p.L387fs|SLC39A12_ENST00000539911.1_Frame_Shift_Del_p.L253fs|SLC39A12_ENST00000377374.4_Frame_Shift_Del_p.L387fs	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	387					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGACAGCGCTGGTCCTTTTCC	0.552													65	19	---	---	---	---					-	18276472	G	-	18276472	7	5	327	1	0	1	0	1	0	0	0	0	14703	1335	47	0	1183	0	SLC39A12	10	18276472	Frame_Shift_Del	DEL	G	TCGA-CV-7446-01A-11D-2229-08		18276472	117258275	91	58134											
CCDC7	221016	broad.mit.edu	37	chr10	32740519	32740519	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctcttattttttttcacaGggaggaataagtttttttca	10	20	6	5	0	3	0	2	0	1	0	4	2	3	2	0	2	0	1	0	2	3	9			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:32740519G>A	ENST00000545067.1	+	2	245		c.e2-1		CCDC7_ENST00000362006.5_Splice_Site|CCDC7_ENST00000277657.6_Splice_Site			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7											NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TTTTTTCACAGGGAGGAATAA	0.348													16	1					0	0	0	0	A	32740519	G	A	32740519	5	1	327	1	0	0	0	0	0	0	1	0	2869	1014	35	4		4	CCDC7	10	32740519	Splice_Site	SNP	G	TCGA-CV-7446-01A-11D-2229-08	14464047	32740519	102794228	92	58135											
TTC18	118491	broad.mit.edu	37	chr10	75082775	75082775	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaaaagctccccgaatTctcttcacacctggatacaa	14	9	5	13	1	2	1	1	1	1	0	4	3	3	2	3	1	2	1	3	1	5	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:75082775T>C	ENST00000401621.2	-	10	1188	c.1068A>G	c.(1066-1068)agA>agG	p.R356R	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000310715.3_Silent_p.R356R|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Silent_p.R356R			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	356							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTCCCCGAATTCTCTTCACAC	0.368													62	30					0	0	0	0	C	75082775	T	C	75082775	2	2	327	1	0	0	0	0	0	0	0	1	16781	1780	62	5		5	TTC18	10	75082775	Silent	SNP	T	TCGA-CV-7446-01A-11D-2229-08	42342256	75082775	60451972	93	58136											
GRID1	2894	broad.mit.edu	37	chr10	87407012	87407012	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcagcccctccgttctTgctgatggtccgccagagtt	4	13	11	13	2	2	2	1	1	1	1	4	2	4	2	5	1	2	4	5	1	0	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:87407012T>G	ENST00000327946.7	-	13	2225	c.2140A>C	c.(2140-2142)Aag>Cag	p.K714Q	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.K285Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	714						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCTCCGTTCTTGCTGATGGTC	0.592										Multiple Myeloma(13;0.14)			161	213					0	0	0	0	G	87407012	T	G	87407012	3	3	327	1	0	0	0	0	1	0	0	0	6821	1821	63	5	905	5	GRID1	10	87407012	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08	12324237	87407012	48127735	94	58137											
ABCC2	1244	broad.mit.edu	37	chr10	101567179	101567179	+	Missense_Mutation	SNP	C	C	A																															tgggaaccttcattcagagaCcaagtacaaaacctccggaa																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:101567179C>A	ENST00000370449.4	+	12	1682	c.1569C>A	c.(1567-1569)gaC>gaA	p.D523E		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	523	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CATTCAGAGACCAAGTACAAA	0.428													17	146					1.5739e-10	1.68575e-10	1	0	A	101567179	C	A	101567179	3	1	327	1	0	0	0	0	1	0	0	0	53	506	18	4	1615	4	ABCC2	10	101567179	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	14160167	101567179	33967568	95	58138	475	2									
ABCC2	1244	broad.mit.edu	37	chr10	101567180	101567180	+	Missense_Mutation	SNP	C	C	A																															gggaaccttcattcagagacCaagtacaaaacctccggaag																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:101567180C>A	ENST00000370449.4	+	12	1683	c.1570C>A	c.(1570-1572)Caa>Aaa	p.Q524K		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	524	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATTCAGAGACCAAGTACAAAA	0.428													17	146					1.5739e-10	1.68575e-10	1	0	A	101567180	C	A	101567180	3	1	327	1	0	0	0	0	1	0	0	0	53	595	21	4	1616	4	ABCC2	10	101567180	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	1	101567180	33967567	96	58139	475	2									
COL17A1	1308	broad.mit.edu	37	chr10	105831828	105831828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactctgcagtcgaactcgaAtttcactctctgtacaaggg	10	11	8	12	2	3	0	1	0	2	0	6	2	3	0	0	1	3	2	0	1	4	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:105831828A>G	ENST00000353479.5	-	8	715	c.425T>C	c.(424-426)aTt>aCt	p.I142T	COL17A1_ENST00000393211.3_Missense_Mutation_p.I142T|COL17A1_ENST00000369733.3_Missense_Mutation_p.I142T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	142	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCGAACTCGAATTTCACTCTC	0.488													34	12					0	0	0	0	G	105831828	A	G	105831828	3	3	327	1	0	0	0	0	1	0	0	0	3704	101	4	5	4264	5	COL17A1	10	105831828	Missense_Mutation	SNP	A	TCGA-CV-7446-01A-11D-2229-08	4264648	105831828	29702919	97	58140											
VWA2	340706	broad.mit.edu	37	chr10	116049006	116049006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgatgaccgtccagagggGtgcccggcctggtgtcccca	6	7	15	13	2	0	3	0	2	0	1	2	3	2	3	6	4	1	0	6	4	0	0			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:116049006G>T	ENST00000603594.1	+	12	2201	c.1880G>T	c.(1879-1881)gGt>gTt	p.G627V	VWA2_ENST00000392982.3_Missense_Mutation_p.G627V	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	627	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GTCCAGAGGGGTGCCCGGCCT	0.642													4	34					0.00024832	0.000256841	1	0	T	116049006	G	T	116049006	3	4	327	1	0	0	0	0	1	0	0	0	17335	1261	44	4	1922	4	VWA2	10	116049006	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	10217178	116049006	19485741	98	58141											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118231356	118231356	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtctttcttcgtgtaggcggGgcagttaggaaaactgggga	8	11	16	6	2	2	0	0	0	2	0	3	2	2	2	0	6	1	3	0	6	4	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:118231356G>C	ENST00000369230.3	+	10	1283	c.1137G>C	c.(1135-1137)ggG>ggC	p.G379G		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	379	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GTGTAGGCGGGGCAGTTAGGA	0.478													13	148					0	0	0	0	C	118231356	G	C	118231356	2	2	327	1	0	0	0	0	0	0	0	1	12224	1219	43	4		4	PNLIPRP3	10	118231356	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	2182350	118231356	17303391	99	58142											
ZNF511	118472	broad.mit.edu	37	chr10	135123745	135123745	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcacatggtgaggatgcaCctgtaccccgcggacttccg	8	8	12	13	3	1	1	1	1	0	0	2	4	2	3	4	3	2	2	4	3	1	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:135123745C>T	ENST00000359035.3	+	4	510	c.507C>T	c.(505-507)caC>caT	p.H169H	ZNF511_ENST00000361518.5_Silent_p.H169H|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Silent_p.H104H			Q8NB15	ZN511_HUMAN	zinc finger protein 511	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TGAGGATGCACCTGTACCCCG	0.512													109	39					0	0	0	0	T	135123745	C	T	135123745	2	4	327	1	0	0	0	0	0	0	0	1	18050	506	18	4		4	ZNF511	10	135123745	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08	16892389	135123745	411002	100	58143											
MICAL2	9645	broad.mit.edu	37	chr11	12247785	12247785	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcatttgatgtggccgagCgagagtttgggatccctcca	7	11	13	10	3	0	2	0	1	0	1	3	5	2	3	3	2	1	2	3	2	0	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:12247785C>T	ENST00000256194.4	+	14	2044	c.1756C>T	c.(1756-1758)Cga>Tga	p.R586*	MICAL2_ENST00000342902.5_Nonsense_Mutation_p.R586*|MICAL2_ENST00000537344.1_Nonsense_Mutation_p.R586*|MICAL2_ENST00000527546.1_Nonsense_Mutation_p.R586*|MICAL2_ENST00000379612.3_Nonsense_Mutation_p.R586*	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	586	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGTGGCCGAGCGAGAGTTTGG	0.493													13	82					0	0	0	0	T	12247785	C	T	12247785	4	4	327	1	0	0	0	0	0	1	0	0	9639	760	27	1	1802	1	MICAL2	11	12247785	Nonsense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08		12247785	122758731	101	58144											
LGR4	55366	broad.mit.edu	37	chr11	27406875	27406875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgagagccagggtcagcGcctgtagggtgggcagattg	7	9	18	7	1	1	2	1	1	0	2	1	3	1	2	2	3	2	3	2	3	1	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:27406875G>A	ENST00000379214.4	-	5	985	c.542C>T	c.(541-543)gCg>gTg	p.A181V	LGR4_ENST00000389858.4_Missense_Mutation_p.A157V|LGR4_ENST00000480977.2_Missense_Mutation_p.A133V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	181						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAGGGTCAGCGCCTGTAGGGT	0.498													113	21					0	0	0	0	A	27406875	G	A	27406875	3	1	327	1	0	0	0	0	1	0	0	0	8810	1087	38	1	2369	1	LGR4	11	27406875	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	15159090	27406875	107599641	102	58145											
KIF18A	81930	broad.mit.edu	37	chr11	28045366	28045366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggcaaatccagaatttaCgtctgcagttaacgaactgt	12	13	8	8	2	1	1	0	0	1	1	2	2	2	1	1	1	4	3	1	1	5	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:28045366C>T	ENST00000263181.6	-	16	2826	c.2536G>A	c.(2536-2538)Gta>Ata	p.V846I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	846					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	p.V846I(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CCAGAATTTACGTCTGCAGTT	0.318													6	34					0	0	0	0	T	28045366	C	T	28045366	3	4	327	1	0	0	0	0	1	0	0	0	8331	536	19	1	168	1	KIF18A	11	28045366	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	638491	28045366	106961150	103	58146											
OR4A5	81318	broad.mit.edu	37	chr11	51411528	51411528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctatagcatttctcatctCtgaatttctcaacgtatata	11	18	3	9	1	4	1	2	1	4	0	7	1	4	1	0	0	2	2	0	0	7	8			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:51411528C>G	ENST00000319760.6	-	1	920	c.868G>C	c.(868-870)Gag>Cag	p.E290Q		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TTTCTCATCTCTGAATTTCTC	0.343													19	17					0	0	0	0	G	51411528	C	G	51411528	3	3	327	1	0	0	0	0	1	0	0	0	11114	922	32	2	83	2	OR4A5	11	51411528	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	23366162	51411528	83594988	104	58147											
OR4A5	81318	broad.mit.edu	37	chr11	51412203	51412203	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgcagcatctataaatgAcaggcaggcaaggaagaaat	18	7	10	6	0	1	2	0	1	1	1	1	3	1	3	0	3	2	4	0	3	7	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:51412203A>T	ENST00000319760.6	-	1	245	c.193T>A	c.(193-195)Tca>Aca	p.S65T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TCTATAAATGACAGGCAGGCA	0.443													27	53					0	0	0	0	T	51412203	A	T	51412203	3	4	327	1	0	0	0	0	1	0	0	0	11114	275	10	5	758	5	OR4A5	11	51412203	Missense_Mutation	SNP	A	TCGA-CV-7446-01A-11D-2229-08	675	51412203	83594313	105	58148											
KLHL35	283212	broad.mit.edu	37	chr11	75139524	75139524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcggagagcacaggcggcGaattctgagcgagtgtagcc	9	7	16	9	4	1	2	0	1	1	1	1	5	1	2	1	3	4	2	1	3	2	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:75139524G>A	ENST00000539798.1	-	2	1028	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	KLHL35_ENST00000376292.4_Silent_p.F123F	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	123										lung(2)|stomach(1)	3						CACAGGCGGCGAATTCTGAGC	0.647													41	31					0	0	0	0	A	75139524	G	A	75139524	2	1	327	1	0	0	0	0	0	0	0	1	8440	1049	37	1		1	KLHL35	11	75139524	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	23727321	75139524	59866992	106	58149											
DDI1	414301	broad.mit.edu	37	chr11	103907963	103907963	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaggtggccggcctgcAaggtctgggcagccccgccc	7	4	16	14	2	1	1	0	0	1	1	1	2	1	1	5	5	2	2	5	5	2	0			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:103907963A>G	ENST00000302259.3	+	1	656	c.413A>G	c.(412-414)cAa>cGa	p.Q138R	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	138					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCCGGCCTGCAAGGTCTGGGC	0.677													18	51					0	0	0	0	G	103907963	A	G	103907963	3	3	327	1	0	0	0	0	1	0	0	0	4360	130	5	5	415	5	DDI1	11	103907963	Missense_Mutation	SNP	A	TCGA-CV-7446-01A-11D-2229-08	28768439	103907963	31098553	107	58150											
PDE3A	5139	broad.mit.edu	37	chr12	20522856	20522856	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgaggctgggcgtccTcatgatcgccttgactagcg	6	9	15	11	3	1	3	1	3	0	0	3	4	2	3	2	3	1	2	2	3	1	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:20522856T>A	ENST00000359062.3	+	1	678	c.638T>A	c.(637-639)cTc>cAc	p.L213H	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	213					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGGGCGTCCTCATGATCGCC	0.647													19	56					0	0	0	0	A	20522856	T	A	20522856	3	1	327	1	0	0	0	0	1	0	0	0	11708	1551	54	5	640	5	PDE3A	12	20522856	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08		20522856	113329039	108	58151											
ZFC3H1	196441	broad.mit.edu	37	chr12	72050969	72050969	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattgatgcattctagttcCaactgtatttgtttatactt	9	21	5	6	0	1	1	0	1	1	0	2	1	2	1	1	0	3	4	1	0	6	11			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:72050969C>T	ENST00000378743.3	-	2	1069	c.711G>A	c.(709-711)ttG>ttA	p.L237L	ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.L237L|ZFC3H1_ENST00000552037.1_Silent_p.L237L	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	237					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATTCTAGTTCCAACTGTATTT	0.323													21	29					0	0	0	0	T	72050969	C	T	72050969	2	4	327	1	0	0	0	0	0	0	0	1	17728	593	21	4		4	ZFC3H1	12	72050969	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08	51528113	72050969	61800926	109	58152											
NAV3	89795	broad.mit.edu	37	chr12	78513517	78513517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccacctcgaaactgagagaaCcaactaaaattgggtcaggg	15	6	10	10	1	1	2	1	1	0	1	2	4	1	2	3	2	3	0	3	2	5	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:78513517C>A	ENST00000397909.2	+	15	3714	c.3541C>A	c.(3541-3543)Cca>Aca	p.P1181T	NAV3_ENST00000266692.7_Missense_Mutation_p.P1181T|NAV3_ENST00000228327.6_Missense_Mutation_p.P1181T|NAV3_ENST00000536525.2_Missense_Mutation_p.P1181T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1181	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGAGAGAACCAACTAAAAT	0.502										HNSCC(70;0.22)			44	54					1.6237e-14	1.87213e-14	1	0	A	78513517	C	A	78513517	3	1	327	1	0	0	0	0	1	0	0	0	10255	507	18	4	3599	4	NAV3	12	78513517	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	6462548	78513517	55338378	110	58153											
GNPTAB	79158	broad.mit.edu	37	chr12	102155466	102155466	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatctgagggaatctgcaaAtgtatcttttagttgcctcc	10	15	8	8	0	3	1	0	1	3	0	4	2	4	2	2	1	2	3	2	1	5	5			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:102155466A>T	ENST00000299314.7	-	14	3053	c.2791T>A	c.(2791-2793)Ttt>Att	p.F931I		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	931					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GAATCTGCAAATGTATCTTTT	0.383													60	74					0	0	0	0	T	102155466	A	T	102155466	3	4	327	1	0	0	0	0	1	0	0	0	6596	101	4	5	1011	5	GNPTAB	12	102155466	Missense_Mutation	SNP	A	TCGA-CV-7446-01A-11D-2229-08	23641949	102155466	31696429	111	58154											
GNPTAB	79158	broad.mit.edu	37	chr12	102158621	102158621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccaggggaattttcacctCttcctgggctctccttgttg	5	15	9	12	0	3	0	1	0	2	0	5	1	4	1	4	3	1	2	4	3	2	6			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:102158621C>G	ENST00000299314.7	-	13	2336	c.2074G>C	c.(2074-2076)Gag>Cag	p.E692Q		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	692					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ATTTTCACCTCTTCCTGGGCT	0.428													28	46					0	0	0	0	G	102158621	C	G	102158621	3	3	327	1	0	0	0	0	1	0	0	0	6596	922	32	2	1732	2	GNPTAB	12	102158621	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	3155	102158621	31693274	112	58155											
ZNF268	10795	broad.mit.edu	37	chr12	133780276	133780307	+	Frame_Shift_Del	DEL	TGGATGCAGTCAATGTGCAAAAACCTTTAGTT	TGGATGCAGTCAATGTGCAAAAACCTTTAGTT	-																															cacactggagtaaaaccctaTggatgcagtcaatgtgcaaa																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:133780276_133780307delTGGATGCAGTCAATGTGCAAAAACCTTTAGTT	ENST00000536435.2	+	6	2334_2365	c.2004_2035delTGGATGCAGTCAATGTGCAAAAACCTTTAGTT	c.(2002-2037)tatgfs	p.YGCSQCAKTFSL668fs	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.YGCSQCAKTFSL668fs|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.YGCSQCAKTFSL507fs	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	668						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TAAAACCCTATGGATGCAGTCAATGTGCAAAAACCTTTAGTTTGAAGTCCCA	0.418													4	6	---	---	---	---					-	133780307	TGGATGCAGTCAATGTGCAAAAACCTTTAGTT	-	133780276	7	5	327	1	0	1	0	1	0	0	0	0	17902	1471	51	0		0	ZNF268	12	133780276	Frame_Shift_Del	DEL	TGGATGCAGTCAATGTGCAAAAACCTTTAGTT	TCGA-CV-7446-01A-11D-2229-08	31621655	133780276	71619	113	58156											
SGCG	6445	broad.mit.edu	37	chr13	23777923	23777923	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaaattggcatttatggCtggagaaagcgctgtctcta	12	12	10	7	1	1	1	0	0	1	1	2	2	1	1	0	3	2	3	0	3	6	5			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr13:23777923C>T	ENST00000218867.3	+	2	214	c.90C>T	c.(88-90)ggC>ggT	p.G30G	SGCG_ENST00000545013.1_Silent_p.G30G|SGCG_ENST00000537476.1_Silent_p.G30G	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	30					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GCATTTATGGCTGGAGAAAGC	0.428													13	27					0	0	0	0	T	23777923	C	T	23777923	2	4	327	1	0	0	0	0	0	0	0	1	14290	784	28	4		4	SGCG	13	23777923	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08		23777923	91391955	114	58157											
ELF1	1997	broad.mit.edu	37	chr13	41533025	41533025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttcttcttcagcaacaTccagtgaactctcagtaatc	11	14	5	11	0	4	2	2	2	3	0	7	2	5	2	1	0	3	2	1	0	3	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr13:41533025T>C	ENST00000239882.3	-	3	514	c.200A>G	c.(199-201)gAt>gGt	p.D67G	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.D67G	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	67					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TTCAGCAACATCCAGTGAACT	0.458													46	114					0	0	0	0	C	41533025	T	C	41533025	3	2	327	1	0	0	0	0	1	0	0	0	5091	1435	50	5	1687	5	ELF1	13	41533025	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08	17755102	41533025	73636853	115	58158											
WBP4	11193	broad.mit.edu	37	chr13	41639314	41639314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatagattaaacagaaaagCctggataaggcaaaggaaga	21	5	10	5	0	0	3	0	0	0	3	0	5	0	5	1	3	2	1	1	3	8	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr13:41639314C>T	ENST00000379487.3	+	4	553	c.153C>T	c.(151-153)agC>agT	p.S51S	WBP4_ENST00000542082.1_Silent_p.S30S	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	51					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		AACAGAAAAGCCTGGATAAGG	0.373													15	44					0	0	0	0	T	41639314	C	T	41639314	2	4	327	1	0	0	0	0	0	0	0	1	17357	738	26	4		4	WBP4	13	41639314	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08	106289	41639314	73530564	116	58159											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281015	49281015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcagaaatggaaccaaatgGcaccttcagcaataacaaca	19	6	6	10	0	2	1	2	0	0	1	2	2	2	2	2	2	4	2	2	2	6	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr13:49281015G>C	ENST00000282018.3	+	1	65	c.62G>C	c.(61-63)gGc>gCc	p.G21A		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	21					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GAACCAAATGGCACCTTCAGC	0.368													24	39					0	0	0	0	C	49281015	G	C	49281015	3	2	327	1	0	0	0	0	1	0	0	0	4234	1203	42	4	64	4	CYSLTR2	13	49281015	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	7641701	49281015	65888863	117	58160											
MTHFD1	4522	broad.mit.edu	37	chr14	64908855	64908855	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgcagaccggatcgcactCaagcttgttggcccagaagg	10	8	12	11	2	1	2	1	0	0	2	2	3	1	3	2	3	2	4	2	3	2	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:64908855C>G	ENST00000555709.1	+	20	2355	c.1968C>G	c.(1966-1968)ctC>ctG	p.L656L	MTHFD1_ENST00000545908.1_Silent_p.L712L|MTHFD1_ENST00000216605.7_Silent_p.L712L|CTD-2555O16.2_ENST00000556640.1_RNA	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	656	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGATCGCACTCAAGCTTGTTG	0.478													50	58					0	0	0	0	G	64908855	C	G	64908855	2	3	327	1	0	0	0	0	0	0	0	1	9997	813	29	2		2	MTHFD1	14	64908855	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08		64908855	42440685	118	58161											
BTBD7	55727	broad.mit.edu	37	chr14	93708889	93708889	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccggtactagcattttctggGgctgccaaaggaaagtctga	10	10	12	9	1	2	1	0	1	2	0	2	2	2	2	2	4	3	3	2	4	4	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:93708889G>A	ENST00000334746.5	-	11	3436	c.3129C>T	c.(3127-3129)gcC>gcT	p.A1043A	BTBD7_ENST00000554565.1_Silent_p.A692A|BTBD7_ENST00000393170.2_Silent_p.A617A	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1043										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CATTTTCTGGGGCTGCCAAAG	0.522													65	181					0	0	0	0	A	93708889	G	A	93708889	2	1	327	1	0	0	0	0	0	0	0	1	1555	1219	43	4		4	BTBD7	14	93708889	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	28800034	93708889	13640651	119	58162											
DDX24	57062	broad.mit.edu	37	chr14	94526560	94526560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccagagaggcgtttgatGcaggagatactgttggcaaa	12	8	14	7	1	0	3	0	1	0	2	0	5	0	3	1	3	3	4	1	3	2	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:94526560G>A	ENST00000330836.5	-	5	1928	c.1797C>T	c.(1795-1797)tgC>tgT	p.C599C	DDX24_ENST00000544005.1_Silent_p.C349C|DDX24_ENST00000555054.1_Silent_p.C556C	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	599	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGCGTTTGATGCAGGAGATAC	0.498													19	73					0	0	0	0	A	94526560	G	A	94526560	2	1	327	1	0	0	0	0	0	0	0	1	4383	1311	46	4		4	DDX24	14	94526560	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	817671	94526560	12822980	120	58163											
BCL11B	64919	broad.mit.edu	37	chr14	99641455	99641455	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcccgggaccccgggcAccccaccaccgccgttctcg	4	3	11	23	7	1	0	0	0	1	0	2	1	1	1	9	2	0	2	9	2	0	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:99641455A>C	ENST00000345514.2	-	3	1771	c.1505T>G	c.(1504-1506)gTg>gGg	p.V502G	BCL11B_ENST00000357195.3_Missense_Mutation_p.V573G|BCL11B_ENST00000443726.2_Missense_Mutation_p.V379G	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	573						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		gaccccgggcACCCCACCACC	0.711			T	TLX3	T-ALL								7	14					0	0	0	0	C	99641455	A	C	99641455	3	2	327	1	0	0	0	0	1	0	0	0	1368	159	6	5	970	5	BCL11B	14	99641455	Missense_Mutation	SNP	A	TCGA-CV-7446-01A-11D-2229-08	5114895	99641455	7708085	121	58164											
ASPG	374569	broad.mit.edu	37	chr14	104561975	104561975	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaacctgcagaagactgtCatcctcactggggcccaggt	10	7	12	12	0	2	3	2	0	0	3	3	4	3	3	3	3	2	1	3	3	2	0			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:104561975C>T	ENST00000551177.1	+	4	503	c.411C>T	c.(409-411)gtC>gtT	p.V137V	ASPG_ENST00000455920.2_Silent_p.V137V|ASPG_ENST00000546892.2_Silent_p.V137V	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	137	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						AGAAGACTGTCATCCTCACTG	0.637													40	64					0	0	0	0	T	104561975	C	T	104561975	2	4	327	1	0	0	0	0	0	0	0	1	1056	813	29	2		2	ASPG	14	104561975	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08	4920520	104561975	2787565	122	58165											
PLA2G4E	123745	broad.mit.edu	37	chr15	42281668	42281668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaccagccgccccatgaaGaactcggagccgaagagctc	11	5	10	15	3	1	3	1	1	0	2	3	5	1	4	5	1	4	1	5	1	3	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr15:42281668G>C	ENST00000399518.3	-	15	2154	c.1668C>G	c.(1666-1668)ttC>ttG	p.F556L	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.F527L	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	544	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCCCCATGAAGAACTCGGAGC	0.602											OREG0023079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	5					0	0	0	0	C	42281668	G	C	42281668	3	2	327	1	0	0	0	0	1	0	0	0	12077	933	33	2	962	2	PLA2G4E	15	42281668	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08		42281668	60249724	123	58166											
DUOX1	53905	broad.mit.edu	37	chr15	45454041	45454041	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaccgagtaccacccctTcacactgacctctgcgcccc	8	6	6	21	2	2	1	1	1	1	0	2	3	2	1	8	0	2	1	8	0	1	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr15:45454041T>G	ENST00000321429.4	+	31	4369	c.3962T>G	c.(3961-3963)tTc>tGc	p.F1321C	DUOX1_ENST00000389037.3_Missense_Mutation_p.F1321C|DUOX1_ENST00000561166.1_Missense_Mutation_p.F967C|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1321	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TACCACCCCTTCACACTGACC	0.657													20	23					0	0	0	0	G	45454041	T	G	45454041	3	3	327	1	0	0	0	0	1	0	0	0	4836	1783	62	5	4076	5	DUOX1	15	45454041	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08	3172373	45454041	57077351	124	58167											
ZNF280D	54816	broad.mit.edu	37	chr15	56924166	56924166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgaatcacaactgacgaTgttttttgagccagtttcct	10	16	7	8	1	1	3	1	3	0	0	2	4	2	3	2	0	2	2	2	0	2	5			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr15:56924166T>C	ENST00000559237.1	-	21	3114	c.2431A>G	c.(2431-2433)Atc>Gtc	p.I811V	ZNF280D_ENST00000267807.7_Missense_Mutation_p.I824V	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	824					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CAACTGACGATGTTTTTTGAG	0.363													63	16					0	0	0	0	C	56924166	T	C	56924166	3	2	327	1	0	0	0	0	1	0	0	0	17912	1464	51	5	473	5	ZNF280D	15	56924166	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08	11470125	56924166	45607226	125	58168											
CPLX3	594855	broad.mit.edu	37	chr15	75122660	75122660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggccacactgggggatCtcaagcaatcagctgagaag	12	5	12	12	0	2	1	2	1	1	1	3	3	2	2	2	3	2	2	2	3	3	0			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr15:75122660C>A	ENST00000395018.4	+	3	599	c.442C>A	c.(442-444)Ctc>Atc	p.L148I	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	148						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						ACTGGGGGATCTCAAGCAATC	0.607													22	20					7.33628e-21	8.74551e-21	1	0	A	75122660	C	A	75122660	3	1	327	1	0	0	0	0	1	0	0	0	3836	913	32	2	452	2	CPLX3	15	75122660	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	18198494	75122660	27408732	126	58169											
COG8	84342	broad.mit.edu	37	chr16	69373327	69373327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtagcggcccacatcgggCcgctcgcgccactgggcctc	5	5	14	17	5	0	0	0	0	0	0	3	0	0	0	4	4	1	2	4	4	1	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr16:69373327C>T	ENST00000306875.4	-	1	243	c.129G>A	c.(127-129)cgG>cgA	p.R43R	COG8_ENST00000562081.1_Silent_p.R43R|RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	43					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CCACATCGGGCCGCTCGCGCC	0.751													19	6					0	0	0	0	T	69373327	C	T	69373327	2	4	327	1	0	0	0	0	0	0	0	1	3694	726	26	4		4	COG8	16	69373327	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08		69373327	20981426	127	58170											
ST3GAL2	6483	broad.mit.edu	37	chr16	70415748	70415748	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgccccggctgtcggccccGaacccgtacacgttcacctg	5	8	10	18	5	1	0	1	0	0	0	2	1	1	0	6	2	3	3	6	2	2	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr16:70415748G>C	ENST00000393640.4	-	6	3004	c.897C>G	c.(895-897)ttC>ttG	p.F299L	ST3GAL2_ENST00000342907.2_Missense_Mutation_p.F299L|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	299					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TGTCGGCCCCGAACCCGTACA	0.701													32	205					0	0	0	0	C	70415748	G	C	70415748	3	2	327	1	0	0	0	0	1	0	0	0	15305	1049	37	3	159	3	ST3GAL2	16	70415748	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	1042421	70415748	19939005	128	58171											
CNTNAP4	85445	broad.mit.edu	37	chr16	76501402	76501402	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgaccttcagatagactCatgtggcatctcagacaggt	11	10	10	10	0	3	4	3	1	1	3	4	4	3	4	1	2	0	1	1	2	1	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr16:76501402C>G	ENST00000307431.8	+	11	2019	c.1634C>G	c.(1633-1635)tCa>tGa	p.S545*	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.S473*|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.S549*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.S497*	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	546	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGATAGACTCATGTGGCATC	0.413													18	76					0	0	0	0	G	76501402	C	G	76501402	4	3	327	1	0	0	0	0	0	1	0	0	3679	838	29	2	1688	2	CNTNAP4	16	76501402	Nonsense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	6085654	76501402	13853351	129	58172											
FANCA	2175	broad.mit.edu	37	chr16	89811462	89811462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagagcagcacaggctcCaggctcggccaccacaccta	10	3	11	17	2	0	1	0	0	0	1	2	1	1	1	4	4	2	5	4	4	1	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr16:89811462C>T	ENST00000389301.3	-	36	3561	c.3531G>A	c.(3529-3531)ctG>ctA	p.L1177L	FANCA_ENST00000568369.1_Silent_p.L1177L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1177					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCACAGGCTCCAGGCTCGGCC	0.642			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				31	30					0	0	0	0	T	89811462	C	T	89811462	2	4	327	1	0	0	0	0	0	0	0	1	5707	581	21	4		4	FANCA	16	89811462	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08	13310060	89811462	543291	130	58173											
RABEP1	9135	broad.mit.edu	37	chr17	5268514	5268515	+	Frame_Shift_Ins	INS	-	-	CGAAGATT																															gacttcataaagcaaagcagINScgaagattcgagtcaccagg																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:5268514_5268515insCGAAGATT	ENST00000262477.6	+	11	1990_1991	c.1766_1767insCGAAGATT	c.(1765-1767)agafs	p.R589fs	RABEP1_ENST00000546142.2_Frame_Shift_Ins_p.R589fs|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000537505.1_Frame_Shift_Ins_p.R546fs|RABEP1_ENST00000408982.2_Frame_Shift_Ins_p.R589fs|RABEP1_ENST00000341923.6_Frame_Shift_Ins_p.R589fs|RP11-420A6.2_ENST00000572792.1_RNA	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	589					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AAGCAAAGCAGCGAAGATTCGA	0.406													8	176	---	---	---	---					CGAAGATT	5268515	-	CGAAGATT	5268514	7	5	327	1	0	1	1	0	0	0	0	0	13043	971	34	0	1808	0	RABEP1	17	5268514	Frame_Shift_Ins	INS	-	TCGA-CV-7446-01A-11D-2229-08		5268514	75926696	131	58174											
TP53	7157	broad.mit.edu	37	chr17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgtgctgtgactgcttgTagatggccatggcgcggacg	6	11	15	9	3	1	2	1	1	0	1	1	3	1	3	1	3	2	3	1	3	1	2	rs148924904		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACTGCTTGTAGATGGCCAT	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			139	14					0	0	0	0	C	7578442	T	C	7578442	3	2	327	1	0	0	0	0	1	0	0	0	16476	1638	57	5	810	5	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08	2309928	7578442	73616768	132	58175											
MYH10	4628	broad.mit.edu	37	chr17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-																															cttctccaggttcttcctggCctcctcctcctcctcctgct																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:8397095_8397097delCCT	ENST00000360416.3	-	32	4301_4303	c.4163_4165delAGG	c.(4162-4167)gcc>g	p.EA1388del	MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del|MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCTTCCTGGCCTCCTCCTCCTC	0.596													7	167	---	---	---	---					-	8397097	CCT	-	8397095	7	5	327	1	0	1	0	1	0	0	0	0	10100	739	26	0	1906	0	MYH10	17	8397095	In_Frame_Del	DEL	CCT	TCGA-CV-7446-01A-11D-2229-08	818653	8397095	72798115	133	58176											
MYH13	8735	broad.mit.edu	37	chr17	10253986	10253986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccgactttctcctctgagCtgaagcccaggatgtcaatg	8	11	9	13	1	3	2	1	2	2	0	5	4	4	3	3	1	2	1	3	1	2	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:10253986C>A	ENST00000418404.3	-	11	1194	c.1031G>T	c.(1030-1032)aGc>aTc	p.S344I	MYH13_ENST00000252172.4_Missense_Mutation_p.S344I|MYH13_ENST00000570743.1_Missense_Mutation_p.S344I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	344	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCCTCTGAGCTGAAGCCCAG	0.493													63	20					4.45325e-31	5.36935e-31	1	0	A	10253986	C	A	10253986	3	1	327	1	0	0	0	0	1	0	0	0	10102	797	28	4	4905	4	MYH13	17	10253986	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	1856891	10253986	70941224	134	58177											
G6PC3	92579	broad.mit.edu	37	chr17	42152387	42152387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattgcaccttccttttggCggttggcttgtcgcgaatct	4	17	10	10	3	1	0	0	0	1	0	3	1	2	0	2	3	1	3	2	3	2	7			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:42152387C>T	ENST00000269097.4	+	4	698	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	156					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TTCCTTTTGGCGGTTGGCTTG	0.547													5	324					0	0	0	0	T	42152387	C	T	42152387	3	4	327	1	0	0	0	0	1	0	0	0	6193	768	27	1	481	1	G6PC3	17	42152387	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	31898401	42152387	39042823	135	58178											
ADAM11	4185	broad.mit.edu	37	chr17	42854927	42854927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacctggtgggagacatcaGtagtgtcaccttctaccacc	9	9	11	12	0	3	1	2	0	1	1	3	3	3	2	4	3	1	1	4	3	2	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:42854927G>T	ENST00000200557.6	+	22	2028	c.1859G>T	c.(1858-1860)aGt>aTt	p.S620I	ADAM11_ENST00000535346.1_Missense_Mutation_p.S420I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	620	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGAGACATCAGTAGTGTCACC	0.592													81	115					5.04879e-28	6.05281e-28	1	0	T	42854927	G	T	42854927	3	4	327	1	0	0	0	0	1	0	0	0	235	1029	36	4	1945	4	ADAM11	17	42854927	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	702540	42854927	38340283	136	58179											
CCDC47	57003	broad.mit.edu	37	chr17	61843401	61843401	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtaacagagtcttccatGacatcctcaaattcagcgaa	14	10	6	11	1	4	2	3	1	1	1	6	3	6	2	2	0	2	1	2	0	3	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:61843401G>T	ENST00000225726.5	-	2	517	c.135C>A	c.(133-135)gtC>gtA	p.V45V	CCDC47_ENST00000403162.3_Silent_p.V45V|CCDC47_ENST00000582252.1_Silent_p.V45V	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	45						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AGTCTTCCATGACATCCTCAA	0.433													123	157					1.84576e-31	2.23825e-31	1	0	T	61843401	G	T	61843401	2	4	327	1	0	0	0	0	0	0	0	1	2845	1277	45	2		2	CCDC47	17	61843401	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	18988474	61843401	19351809	137	58180											
ABCA6	23460	broad.mit.edu	37	chr17	67081264	67081264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcatgggccacagcacGttctcttgagggcagtaccc	8	8	12	13	1	2	1	1	1	1	0	3	1	2	1	2	2	3	5	2	2	1	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:67081264G>T	ENST00000284425.2	-	32	4263	c.4089C>A	c.(4087-4089)aaC>aaA	p.N1363K	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1363	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCCACAGCACGTTCTCTTGAG	0.537													5	22					5.9392e-07	6.32915e-07	1	0	T	67081264	G	T	67081264	3	4	327	1	0	0	0	0	1	0	0	0	36	1136	40	3	796	3	ABCA6	17	67081264	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	5237863	67081264	14113946	138	58181											
SPPL2B	56928	broad.mit.edu	37	chr19	2353005	2353005	+	RNA	SNP	A	A	G																															cggcccgcagcctcccaaagActctgccacgccactctccc																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:2353005A>G	ENST00000452401.2	+	0	1717				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		CCTCCCAAAGACTCTGCCACG	0.657													12	35					0	0	0	0	G	2353005	A	G	2353005	1	3	327	0	1	0	0	0	0	0	0	0	15179	275	10	5		5	SPPL2B	19	2353005	RNA	SNP	A	TCGA-CV-7446-01A-11D-2229-08		2353005	56775978	139	58182	476	2									
SPPL2B	56928	broad.mit.edu	37	chr19	2353008	2353008	+	RNA	SNP	C	C	G																															cccgcagcctcccaaagactCtgccacgccactctccccgc																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:2353008C>G	ENST00000452401.2	+	0	1720				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		CCCAAAGACTCTGCCACGCCA	0.657													12	34					0	0	0	0	G	2353008	C	G	2353008	1	3	327	0	1	0	0	0	0	0	0	0	15179	913	32	2		2	SPPL2B	19	2353008	RNA	SNP	C	TCGA-CV-7446-01A-11D-2229-08	3	2353008	56775975	140	58183	476	2									
CHAF1A	10036	broad.mit.edu	37	chr19	4433520	4433520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccaattcatgaagaagcGcaggcacgacggccaggtga	13	4	12	12	3	1	3	1	2	0	1	1	4	1	3	2	3	1	2	2	3	3	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:4433520G>A	ENST00000301280.5	+	13	2758	c.2657G>A	c.(2656-2658)cGc>cAc	p.R886H		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	886	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAAGAAGCGCAGGCACGAC	0.557								Chromatin Structure					28	61					0	0	0	0	A	4433520	G	A	4433520	3	1	327	1	0	0	0	0	1	0	0	0	3340	1087	38	1	2707	1	CHAF1A	19	4433520	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	2080512	4433520	54695463	141	58184											
ZNF699	374879	broad.mit.edu	37	chr19	9406610	9406610	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagttcttaggtgttcggtGagggatgaggaacgactaaa	11	11	15	4	2	1	3	0	3	1	0	2	6	1	5	0	4	1	2	0	4	4	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:9406610G>A	ENST00000591998.1	-	6	1698	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	ZNF699_ENST00000308650.3_Silent_p.L490L			Q32M78	ZN699_HUMAN	zinc finger protein 699	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGTGTTCGGTGAGGGATGAGG	0.448													35	44					0	0	0	0	A	9406610	G	A	9406610	2	1	327	1	0	0	0	0	0	0	0	1	18196	1277	45	2		2	ZNF699	19	9406610	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08	4973090	9406610	49722373	142	58185											
B3GNT3	10331	broad.mit.edu	37	chr19	17918790	17918802	+	Frame_Shift_Del	DEL	GGCCCCGTGCCAT	GGCCCCGTGCCAT	-																															ccacccacccgcccagccccGgccccgtgccatgccaacac																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:17918790_17918802delGGCCCCGTGCCAT	ENST00000318683.6	+	2	321_333	c.174_186delGGCCCCGTGCCAT	c.(172-186)ccfs	p.PAPCH58fs	B3GNT3_ENST00000595387.1_Frame_Shift_Del_p.PAPCH58fs	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	58					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCCCAGCCCCGGCCCCGTGCCATGCCAACACCT	0.671													9	28	---	---	---	---					-	17918802	GGCCCCGTGCCAT	-	17918790	7	5	327	1	0	1	0	1	0	0	0	0	1262	1103	39	0	176	0	B3GNT3	19	17918790	Frame_Shift_Del	DEL	GGCCCCGTGCCAT	TCGA-CV-7446-01A-11D-2229-08	8512180	17918790	41210193	143	58186											
MAST3	23031	broad.mit.edu	37	chr19	18258344	18258344	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccaccactcactgtcaTccagtgagagcctccccggc	8	7	8	18	1	2	1	2	1	0	1	5	3	5	1	6	1	1	0	6	1	0	0			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:18258344T>A	ENST00000262811.5	+	26	3304	c.3304T>A	c.(3304-3306)Tcc>Acc	p.S1102T	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1102	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CTCACTGTCATCCAGTGAGAG	0.642													11	10					0	0	0	0	A	18258344	T	A	18258344	3	1	327	1	0	0	0	0	1	0	0	0	9395	1435	50	5	3406	5	MAST3	19	18258344	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08	339554	18258344	40870639	144	58187											
NDUFA13	51079	broad.mit.edu	37	chr19	19638864	19638864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggtgccccccttgatcGgggagctgtacgggctgcgc	3	8	17	13	3	0	1	0	1	0	0	1	2	0	2	3	4	4	4	3	4	1	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:19638864G>T	ENST00000507754.3	+	5	865	c.364G>T	c.(364-366)Ggg>Tgg	p.G122W	CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000503283.1_Intron|CTC-260F20.3_ENST00000555938.1_Intron|NDUFA13_ENST00000252576.5_Missense_Mutation_p.G205W					NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CCCCTTGATCGGGGAGCTGTA	0.647													15	32					2.62699e-14	3.01247e-14	1	0	T	19638864	G	T	19638864	3	4	327	1	0	0	0	0	1	0	0	0	10333	1116	39	3	382	3	NDUFA13	19	19638864	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	1380520	19638864	39490119	145	58188											
ZNF626	199777	broad.mit.edu	37	chr19	20828521	20828521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctatcatctcatttctcttCatggtcaaaggttttcttcc	7	18	5	11	0	6	0	4	0	3	0	9	0	7	0	1	2	0	2	1	2	2	6			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:20828521C>T	ENST00000601440.1	-	3	341	c.195G>A	c.(193-195)atG>atA	p.M65I	ZNF626_ENST00000291750.6_Missense_Mutation_p.M65I|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	65	KRAB.		M -> T (in dbSNP:rs8106117).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CATTTCTCTTCATGGTCAAAG	0.388													19	91					0	0	0	0	T	20828521	C	T	20828521	3	4	327	1	0	0	0	0	1	0	0	0	18145	826	29	2	1456	2	ZNF626	19	20828521	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	1189657	20828521	38300462	146	58189											
ZNF429	353088	broad.mit.edu	37	chr19	21712542	21712542	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagcacaacagaacttatAtagaaatgtgatgttagaga	18	9	8	6	0	0	4	0	1	0	3	0	5	0	4	0	0	3	2	0	0	7	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:21712542A>G	ENST00000358491.4	+	2	294	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	ZNF429_ENST00000597078.1_Missense_Mutation_p.Y29C|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CAGAACTTATATAGAAATGTG	0.408													116	124					0	0	0	0	G	21712542	A	G	21712542	3	3	327	1	0	0	0	0	1	0	0	0	17997	449	16	5	92	5	ZNF429	19	21712542	Missense_Mutation	SNP	A	TCGA-CV-7446-01A-11D-2229-08	884021	21712542	37416441	147	58190											
ZNF43	7594	broad.mit.edu	37	chr19	21991252	21991252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccagtatgagttatCttatgttcagtaagctttga	9	18	7	7	0	3	2	1	2	2	0	5	2	4	2	1	0	1	5	1	0	4	7			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:21991252C>A	ENST00000594012.1	-	7	2083	c.1569G>T	c.(1567-1569)aaG>aaT	p.K523N	ZNF43_ENST00000354959.4_Missense_Mutation_p.K529N|ZNF43_ENST00000595461.1_Missense_Mutation_p.K523N|ZNF43_ENST00000598381.1_Missense_Mutation_p.K523N	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TATGAGTTATCTTATGTTCAG	0.353													25	103					6.32553e-13	7.0994e-13	1	0	A	21991252	C	A	21991252	3	1	327	1	0	0	0	0	1	0	0	0	17998	912	32	2	846	2	ZNF43	19	21991252	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	278710	21991252	37137731	148	58191											
ZNF30	90075	broad.mit.edu	37	chr19	35434432	35434432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaggcctttatcagtGgctcagcctttgttaagcat	8	13	12	8	0	2	0	2	0	0	0	2	1	2	1	2	3	2	3	2	3	3	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:35434432G>A	ENST00000439785.1	+	5	1009	c.565G>A	c.(565-567)Ggc>Agc	p.G189S	ZNF30_ENST00000601142.1_Missense_Mutation_p.G188S|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.G107S|ZNF30_ENST00000303586.7_Missense_Mutation_p.G189S	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CTTTATCAGTGGCTCAGCCTT	0.398													7	32					0	0	0	0	A	35434432	G	A	35434432	3	1	327	1	0	0	0	0	1	0	0	0	17925	1348	47	4	579	4	ZNF30	19	35434432	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	13443180	35434432	23694551	149	58192											
SCN1B	6324	broad.mit.edu	37	chr19	35524463	35524463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcgcttcgagggccgcGtggtgtggaatggcagccgg	6	7	19	9	5	0	1	0	1	0	0	1	3	0	2	2	5	2	2	2	5	1	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:35524463G>A	ENST00000262631.5	+	3	405	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000415950.3_Missense_Mutation_p.V90M|SCN1B_ENST00000596348.1_3'UTR	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	90	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CGAGGGCCGCGTGGTGTGGAA	0.597													149	133					0	0	0	0	A	35524463	G	A	35524463	3	1	327	1	0	0	0	0	1	0	0	0	14002	1145	40	1	278	1	SCN1B	19	35524463	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	90031	35524463	23604520	150	58193											
HPN	3249	broad.mit.edu	37	chr19	35551281	35551281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaagctgcccgtggaccGcatcgtgggaggccgggaca	8	4	17	12	4	0	0	0	0	0	0	1	4	0	4	3	5	2	2	3	5	1	0			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:35551281G>A	ENST00000262626.2	+	8	1310	c.485G>A	c.(484-486)cGc>cAc	p.R162H	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.R162H|HPN_ENST00000597419.1_Intron	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	162					cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCCGTGGACCGCATCGTGGGA	0.692													6	110					0	0	0	0	A	35551281	G	A	35551281	3	1	327	1	0	0	0	0	1	0	0	0	7386	1087	38	1	511	1	HPN	19	35551281	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	26818	35551281	23577702	151	58194											
MEGF8	1954	broad.mit.edu	37	chr19	42853779	42853779	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagagatccagggccagctCaatggctcggcaggccctgg	8	6	15	12	1	1	1	1	0	0	1	3	2	2	1	3	5	1	4	3	5	2	1			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:42853779C>G	ENST00000334370.4	+	13	2861	c.2226C>G	c.(2224-2226)ctC>ctG	p.L742L	MEGF8_ENST00000251268.6_Silent_p.L809L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	809						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGGGCCAGCTCAATGGCTCGG	0.652													21	79					0	0	0	0	G	42853779	C	G	42853779	2	3	327	1	0	0	0	0	0	0	0	1	9532	813	29	2		2	MEGF8	19	42853779	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08	7302498	42853779	16275204	152	58195											
ZNF233	353355	broad.mit.edu	37	chr19	44777132	44777132	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaccttatatgctggCaaatatgggaacaatttaca	16	11	8	6	0	0	2	0	1	0	1	0	3	0	3	1	2	3	2	1	2	8	5			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:44777132C>T	ENST00000391958.2	+	5	446	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TATATGCTGGCAAATATGGGA	0.338													9	49					0	0	0	0	T	44777132	C	T	44777132	4	4	327	1	0	0	0	0	0	1	0	0	17881	711	25	4	333	4	ZNF233	19	44777132	Nonsense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	1923353	44777132	14351851	153	58196											
GLTSCR1	29998	broad.mit.edu	37	chr19	48184019	48184019	+	Frame_Shift_Del	DEL	C	C	-																															gagcctgggccccgtgttggCcccccactccggggcccaca																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:48184019delC	ENST00000396720.3	+	6	1786	c.1592delC	c.(1591-1593)gcfs	p.A531fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	531							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCGTGTTGGCCCCCCACTCC	0.721													74	88	---	---	---	---					-	48184019	C	-	48184019	7	5	327	1	0	1	0	1	0	0	0	0	6525	739	26	0	1606	0	GLTSCR1	19	48184019	Frame_Shift_Del	DEL	C	TCGA-CV-7446-01A-11D-2229-08	3406887	48184019	10944964	154	58197											
EPS8L1	54869	broad.mit.edu	37	chr19	55597804	55597804	+	Frame_Shift_Del	DEL	T	T	-																															gccccagccccggccccaccTccagctctggctcggccccg																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:55597804delT	ENST00000201647.6	+	17	1751	c.1695delT	c.(1693-1695)ccfs	p.P566fs	EPS8L1_ENST00000245618.5_Frame_Shift_Del_p.P439fs|EPS8L1_ENST00000588359.1_Frame_Shift_Del_p.P252fs|EPS8L1_ENST00000540810.1_Frame_Shift_Del_p.P502fs|EPS8L1_ENST00000586329.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	566	Pro-rich.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		cggccccacctccagcTCTGG	0.672													2	4	---	---	---	---					-	55597804	T	-	55597804	7	5	327	1	0	1	0	1	0	0	0	0	5233	1538	54	0	1809	0	EPS8L1	19	55597804	Frame_Shift_Del	DEL	T	TCGA-CV-7446-01A-11D-2229-08	7413785	55597804	3531179	155	58198											
ZNF304	57343	broad.mit.edu	37	chr19	57865147	57865147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctcgggaggagtgggaaCtccttgaggaggcacagaga	10	7	16	8	1	1	2	0	1	1	1	4	7	2	6	1	5	1	1	1	5	1	1	rs140167914		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:57865147C>T	ENST00000391705.3	+	3	372	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F	ZNF304_ENST00000598744.1_5'UTR|ZNF304_ENST00000282286.5_Missense_Mutation_p.L30F|ZNF304_ENST00000443917.2_Missense_Mutation_p.L30F	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	30	KRAB.				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)		GGAGTGGGAACTCCTTGAGGA	0.488													58	58					0	0	0	0	T	57865147	C	T	57865147	3	4	327	1	0	0	0	0	1	0	0	0	17928	565	20	4	94	4	ZNF304	19	57865147	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	2267343	57865147	1263836	156	58199											
HAO1	54363	broad.mit.edu	37	chr20	7866457	7866457	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccgcacacccccgtccaGgaagacttccaccttccctt	7	10	5	19	2	0	1	0	0	0	1	4	2	4	2	7	1	0	1	7	1	1	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr20:7866457G>A	ENST00000378789.3	-	6	919	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	290	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCCCCGTCCAGGAAGACTTCC	0.488													41	141					0	0	0	0	A	7866457	G	A	7866457	2	1	327	1	0	0	0	0	0	0	0	1	7001	991	35	4		4	HAO1	20	7866457	Silent	SNP	G	TCGA-CV-7446-01A-11D-2229-08		7866457	55159063	157	58200											
ISM1	140862	broad.mit.edu	37	chr20	13260526	13260526	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccggacttttgaaacCaaagatcagccagaatatgg	14	7	10	10	1	1	3	1	1	0	2	1	4	1	4	4	3	2	0	4	3	4	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr20:13260526C>G	ENST00000262487.3	+	3	630	c.624C>G	c.(622-624)acC>acG	p.T208T	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	208						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CTTTTGAAACCAAAGATCAGC	0.498													16	33					0	0	0	0	G	13260526	C	G	13260526	2	3	327	1	0	0	0	0	0	0	0	1	7913	581	21	4		4	ISM1	20	13260526	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08	5394069	13260526	49764994	158	58201											
RIN2	54453	broad.mit.edu	37	chr20	19970896	19970896	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgtattcgccggaaaagaAggtcatgctgctgctgcggg	9	9	15	8	3	1	1	1	0	0	1	2	3	1	2	1	3	4	4	1	3	4	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr20:19970896A>G	ENST00000255006.6	+	9	2305	c.2156A>G	c.(2155-2157)aAg>aGg	p.K719R	RIN2_ENST00000440354.2_Missense_Mutation_p.K237R|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	670	VPS9.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CCGGAAAAGAAGGTCATGCTG	0.547													9	19					0	0	0	0	G	19970896	A	G	19970896	3	3	327	1	0	0	0	0	1	0	0	0	13457	72	3	5	2039	5	RIN2	20	19970896	Missense_Mutation	SNP	A	TCGA-CV-7446-01A-11D-2229-08	6710370	19970896	43054624	159	58202											
LAMA5	3911	broad.mit.edu	37	chr20	60891826	60891826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccaggccctgccgcaccaCcgtctgtggatgccagggca	7	5	12	17	2	1	0	0	0	1	0	1	1	1	1	6	3	2	2	6	3	0	0			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr20:60891826C>A	ENST00000252999.3	-	57	7723	c.7657G>T	c.(7657-7659)Gtg>Ttg	p.V2553L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2553	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCCGCACCACCGTCTGTGGA	0.692													13	24					0.00010058	0.000104544	1	0	A	60891826	C	A	60891826	3	1	327	1	0	0	0	0	1	0	0	0	8662	507	18	4	3526	4	LAMA5	20	60891826	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	40920930	60891826	2133694	160	58203											
BACH1	571	broad.mit.edu	37	chr21	30693736	30693736	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgtggagggacagcggttCcgcgctcaccggtccgtgct	4	10	15	12	5	1	0	1	0	0	0	3	2	3	2	3	4	2	3	3	4	0	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr21:30693736C>T	ENST00000399921.1	+	2	378	c.135C>T	c.(133-135)ttC>ttT	p.F45F	BACH1_ENST00000286800.3_Silent_p.F45F	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	45	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GACAGCGGTTCCGCGCTCACC	0.522													39	71					0	0	0	0	T	30693736	C	T	30693736	2	4	327	1	0	0	0	0	0	0	0	1	1287	854	30	2		2	BACH1	21	30693736	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08		30693736	17436159	161	58204											
PFKL	5211	broad.mit.edu	37	chr21	45732961	45732961	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcggcaccgacatgaccatCggcacggactcggccctcca	8	5	11	17	5	0	1	0	1	0	0	3	3	1	2	4	4	1	2	4	4	0	0			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr21:45732961C>T	ENST00000403390.1	+	6	669	c.669C>T	c.(667-669)atC>atT	p.I223I	PFKL_ENST00000349048.4_Silent_p.I176I|PFKL_ENST00000496824.1_3'UTR			P17858	K6PL_HUMAN	phosphofructokinase, liver	176					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		ACATGACCATCGGCACGGACT	0.637													38	68					0	0	0	0	T	45732961	C	T	45732961	2	4	327	1	0	0	0	0	0	0	0	1	11836	874	31	1		1	PFKL	21	45732961	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08	15039225	45732961	2396934	162	58205											
SGSM1	129049	broad.mit.edu	37	chr22	25294221	25294223	+	In_Frame_Del	DEL	GAT	GAT	-																															gcgaggccaccacatctcagGatgaggctccccgggaggag																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr22:25294221_25294223delGAT	ENST00000400358.4	+	19	2362_2364	c.2305_2307delGAT	c.(2305-2307)del	p.D769del	SGSM1_ENST00000400359.4_In_Frame_Del_p.D824del	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	824	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CACATCTCAGGATGAGGCTCCCC	0.645													22	17	---	---	---	---					-	25294223	GAT	-	25294221	7	5	327	1	0	1	0	1	0	0	0	0	14309	1174	41	0	2548	0	SGSM1	22	25294221	In_Frame_Del	DEL	GAT	TCGA-CV-7446-01A-11D-2229-08		25294221	26010345	163	58206											
SGSM3	27352	broad.mit.edu	37	chr22	40803492	40803494	+	In_Frame_Del	DEL	CGG	CGG	-																															tggcgtgctcacgcagccacCggcgccgagccaaggccctg																										TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr22:40803492_40803494delCGG	ENST00000248929.9	+	13	1633_1635	c.1444_1446delCGG	c.(1444-1446)del	p.R484del	SGSM3_ENST00000454798.2_In_Frame_Del_p.R417del	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	484	SH3.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						ACGCAGCCACCGGCGCCGAGCCA	0.64													21	44	---	---	---	---					-	40803494	CGG	-	40803492	7	5	327	1	0	1	0	1	0	0	0	0	14311	643	23	0	1490	0	SGSM3	22	40803492	In_Frame_Del	DEL	CGG	TCGA-CV-7446-01A-11D-2229-08	15509271	40803492	10501074	164	58207											
CCNB3	85417	broad.mit.edu	37	chrX	50052863	50052863	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agataagaattctttctttaTggagccaatgtcatttagga	13	15	8	5	0	3	2	1	0	2	2	3	4	3	4	1	2	1	0	1	2	5	7			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:50052863T>C	ENST00000376042.1	+	6	1992	c.1694T>C	c.(1693-1695)aTg>aCg	p.M565T	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M565T|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	565					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCTTTCTTTATGGAGCCAATG	0.383													15	1					0	0	0	0	C	50052863	T	C	50052863	3	2	327	1	0	0	0	0	1	0	0	0	2943	1464	51	5	1708	5	CCNB3	23	50052863	Missense_Mutation	SNP	T	TCGA-CV-7446-01A-11D-2229-08		50052863	105217697	165	58208											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011501	105011501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccagtaccttccttaggCaaccaccatacttattgtaa	11	13	5	12	0	0	0	0	0	0	0	1	0	1	0	5	1	4	3	5	1	6	8			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:105011501C>T	ENST00000372582.1	+	11	2664	c.1908C>T	c.(1906-1908)ggC>ggT	p.G636G	IL1RAPL2_ENST00000344799.4_Silent_p.G636G|IL1RAPL2_ENST00000538500.1_Silent_p.G241G	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	636					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTCCTTAGGCAACCACCATA	0.463													96	10					0	0	0	0	T	105011501	C	T	105011501	2	4	327	1	0	0	0	0	0	0	0	1	7715	697	25	4		4	IL1RAPL2	23	105011501	Silent	SNP	C	TCGA-CV-7446-01A-11D-2229-08	54958638	105011501	50259059	166	58209											
NRK	203447	broad.mit.edu	37	chrX	105153470	105153470	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaggtgctcattccagtaGaggggcaaactgaaggatca	12	8	12	9	0	3	2	3	1	0	1	4	3	4	3	1	4	2	3	1	4	3	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:105153470G>C	ENST00000428173.2	+	13	2143	c.1840G>C	c.(1840-1842)Gag>Cag	p.E614Q	NRK_ENST00000243300.9_Missense_Mutation_p.E613Q			Q7Z2Y5	NRK_HUMAN	Nik related kinase	613							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CATTCCAGTAGAGGGGCAAAC	0.493										HNSCC(51;0.14)			12	11					0	0	0	0	C	105153470	G	C	105153470	3	2	327	1	0	0	0	0	1	0	0	0	10726	943	33	2	1887	2	NRK	23	105153470	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	141969	105153470	50117090	167	58210											
CXorf57	55086	broad.mit.edu	37	chrX	105882774	105882774	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttgagtcgctcttgacaGctataagtgaagtcaggaag	12	10	12	7	1	2	3	1	3	1	0	3	4	2	4	0	1	1	3	0	1	4	4			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:105882774G>T	ENST00000372548.4	+	9	1700	c.1591G>T	c.(1591-1593)Gct>Tct	p.A531S	CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	531										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GCTCTTGACAGCTATAAGTGA	0.343													21	76					7.87624e-14	8.98318e-14	1	0	T	105882774	G	T	105882774	3	4	327	1	0	0	0	0	1	0	0	0	4145	971	34	4	1625	4	CXorf57	23	105882774	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	729304	105882774	49387786	168	58211											
DCX	1641	broad.mit.edu	37	chrX	110653985	110653985	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcctgagacttactgaCagtggctcctatcaaattgg	13	11	8	9	0	1	2	1	2	0	1	3	3	3	2	2	2	1	1	2	2	5	3			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:110653985C>G	ENST00000338081.3	-	1	389	c.218G>C	c.(217-219)tGt>tCt	p.C73S	DCX_ENST00000488120.1_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	73					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GACTTACTGACAGTGGCTCCT	0.438													4	161					0	0	0	0	G	110653985	C	G	110653985	3	3	327	1	0	0	0	0	1	0	0	0	4350	478	17	4	1150	4	DCX	23	110653985	Missense_Mutation	SNP	C	TCGA-CV-7446-01A-11D-2229-08	4771211	110653985	44616575	169	58212											
SPANXN2	494119	broad.mit.edu	37	chrX	142795498	142795498	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatttgaatttattttcgtAtgcttcctgtagtaatacac	10	19	6	6	1	0	2	0	2	0	0	2	2	1	2	1	0	2	4	1	0	6	10			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:142795498A>G	ENST00000370498.1	-	2	933	c.180T>C	c.(178-180)caT>caC	p.H60H		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	60										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTATTTTCGTATGCTTCCTGT	0.448													57	13					0	0	0	0	G	142795498	A	G	142795498	2	3	327	1	0	0	0	0	0	0	0	1	15081	446	16	5		5	SPANXN2	23	142795498	Silent	SNP	A	TCGA-CV-7446-01A-11D-2229-08	32141513	142795498	12475062	170	58213											
NSDHL	50814	broad.mit.edu	37	chrX	152037563	152037563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactactacagctgcgagaGagccaaaaaggccatgggct	13	5	11	12	1	0	1	0	0	0	1	0	3	0	1	3	2	5	2	3	2	4	2			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:152037563G>C	ENST00000370274.3	+	8	1219	c.1025G>C	c.(1024-1026)aGa>aCa	p.R342T	NSDHL_ENST00000440023.1_Missense_Mutation_p.R342T	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	342					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AGCTGCGAGAGAGCCAAAAAG	0.587													20	5					0	0	0	0	C	152037563	G	C	152037563	3	2	327	1	0	0	0	0	1	0	0	0	10741	942	33	2	1051	2	NSDHL	23	152037563	Missense_Mutation	SNP	G	TCGA-CV-7446-01A-11D-2229-08	9242065	152037563	3232997	171	58214											
AGRN	375790	broad.mit.edu	37	chr1	983443	983443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcaggagccattgctgcggGagccacggccagagccacca	9	4	14	14	2	1	1	1	0	0	1	1	3	1	3	5	3	5	1	5	3	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:983443G>A	ENST00000379370.2	+	23	3853	c.3803G>A	c.(3802-3804)gGa>gAa	p.G1268E		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1268	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ATTGCTGCGGGAGCCACGGCC	0.667													2	1					0	0	0	0	A	983443	G	A	983443	3	1	328	1	0	0	0	0	1	0	0	0	397	1174	41	2	3893	2	AGRN	1	983443	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08		983443	248267178	1	58215											
ACAP3	116983	broad.mit.edu	37	chr1	1229511	1229511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtggtgcaggggcgcccgGccccggctgtctctttggtt	1	10	17	13	4	1	0	0	0	1	0	2	0	1	0	3	6	1	3	3	6	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:1229511G>A	ENST00000354700.5	-	22	2410	c.2208C>T	c.(2206-2208)ggC>ggT	p.G736G	ACAP3_ENST00000353662.3_Silent_p.G661G	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	736					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGGGCGCCCGGCCCCGGCTGT	0.716													3	3					0	0	0	0	A	1229511	G	A	1229511	2	1	328	1	0	0	0	0	0	0	0	1	120	1190	42	4		4	ACAP3	1	1229511	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	246068	1229511	248021110	2	58216											
CCNL2	81669	broad.mit.edu	37	chr1	1323209	1323209	+	Missense_Mutation	SNP	G	G	A																															cctcgagtagctctgctcacGgctccggctccgactccgac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:1323209G>A	ENST00000400809.3	-	10	1164	c.1159C>T	c.(1159-1161)Cgt>Tgt	p.R387C	CCNL2_ENST00000408952.5_Missense_Mutation_p.R165C|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	387	RS.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CTCTGCTCACGGCTCCGGCTC	0.637													12	10					0	0	0	0	A	1323209	G	A	1323209	3	1	328	1	0	0	0	0	1	0	0	0	2961	1116	39	1	411	1	CCNL2	1	1323209	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	93698	1323209	247927412	3	58217	477	2									
CCNL2	81669	broad.mit.edu	37	chr1	1323210	1323210	+	Silent	SNP	G	G	A																															ctcgagtagctctgctcacgGctccggctccgactccgact																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:1323210G>A	ENST00000400809.3	-	10	1163	c.1158C>T	c.(1156-1158)agC>agT	p.S386S	CCNL2_ENST00000408952.5_Silent_p.S164S|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	386	RS.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TCTGCTCACGGCTCCGGCTCC	0.632													12	9					0	0	0	0	A	1323210	G	A	1323210	2	1	328	1	0	0	0	0	0	0	0	1	2961	1194	42	4		4	CCNL2	1	1323210	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	1323210	247927411	4	58218	477	2									
VWA1	64856	broad.mit.edu	37	chr1	1372443	1372443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcccctgggcaccggggcCctgcgtgccagtctggtgca	3	7	15	16	2	1	0	0	0	1	0	1	0	1	0	5	4	4	2	5	4	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:1372443C>T	ENST00000476993.1	+	2	288	c.210C>T	c.(208-210)gcC>gcT	p.A70A	VWA1_ENST00000338660.5_Intron|VWA1_ENST00000404702.3_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	70	VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCACCGGGGCCCTGCGTGCCA	0.672													12	22					0	0	0	0	T	1372443	C	T	1372443	2	4	328	1	0	0	0	0	0	0	0	1	17334	610	22	4		4	VWA1	1	1372443	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	49233	1372443	247878178	5	58219											
SLC35E2	9906	broad.mit.edu	37	chr1	1663930	1663930	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggggcagggcagcgccatGgacaaggcgactcggtgcag	9	4	18	10	3	0	0	0	0	0	0	1	2	0	1	1	6	2	3	1	6	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:1663930G>A	ENST00000246421.4	-	6	1180	c.765C>T	c.(763-765)tcC>tcT	p.S255S	SLC35E2_ENST00000400924.1_Intron|SLC35E2_ENST00000475229.1_5'UTR|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000355439.2_Intron	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	255						integral to membrane				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGCGCCATGGACAAGGCGA	0.607													6	11					0	0	0	0	A	1663930	G	A	1663930	2	1	328	1	0	0	0	0	0	0	0	1	14673	1335	47	4		4	SLC35E2	1	1663930	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	291487	1663930	247586691	6	58220											
SKI	6497	broad.mit.edu	37	chr1	2160703	2160703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcctcaaagtcatgggcatCctgcccttctcggcgccctc	6	10	8	17	2	3	0	2	0	1	0	7	0	5	0	4	2	1	1	4	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:2160703C>T	ENST00000378536.4	+	1	570	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	166					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I166I(1)		central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TCATGGGCATCCTGCCCTTCT	0.667													3	11					0	0	0	0	T	2160703	C	T	2160703	2	4	328	1	0	0	0	0	0	0	0	1	14445	845	30	2		2	SKI	1	2160703	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	496773	2160703	247089918	7	58221											
SKI	6497	broad.mit.edu	37	chr1	2160947	2160947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgcctgcatccagtgcCtggactgccgcctcatgtac	5	8	11	17	3	1	0	1	0	0	0	2	1	2	1	6	1	4	2	6	1	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:2160947C>T	ENST00000378536.4	+	1	814	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	248					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CATCCAGTGCCTGGACTGCCG	0.667													19	16					0	0	0	0	T	2160947	C	T	2160947	2	4	328	1	0	0	0	0	0	0	0	1	14445	680	24	4		4	SKI	1	2160947	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	244	2160947	247089674	8	58222											
PEX10	5192	broad.mit.edu	37	chr1	2337938	2337938	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccttgctgctgcaccaCgcggtgatgcactcccagca	7	8	9	17	2	1	1	1	1	0	0	2	1	2	1	3	1	5	5	3	1	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:2337938C>A	ENST00000288774.3	-	5	984	c.957G>T	c.(955-957)gcG>gcT	p.A319A	PEX10_ENST00000447513.2_Silent_p.A299A|PEX10_ENST00000507596.1_Silent_p.A299A	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	299					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TGCTGCACCACGCGGTGATGC	0.667													16	35					3.51602e-12	3.56078e-12	1	0	A	2337938	C	A	2337938	2	1	328	1	0	0	0	0	0	0	0	1	11808	523	19	3		3	PEX10	1	2337938	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	176991	2337938	246912683	9	58223											
PANK4	55229	broad.mit.edu	37	chr1	2445840	2445840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgttccagtacttctgccgGaacttctccgccctctcggc	4	13	8	16	3	3	0	0	0	3	0	6	1	4	1	4	2	3	2	4	2	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:2445840G>A	ENST00000378466.3	-	11	1452	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	PANK4_ENST00000435556.3_Silent_p.F441F	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	480					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACTTCTGCCGGAACTTCTCCG	0.627													34	27					0	0	0	0	A	2445840	G	A	2445840	2	1	328	1	0	0	0	0	0	0	0	1	11490	1165	41	2		2	PANK4	1	2445840	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	107902	2445840	246804781	10	58224											
PRDM16	63976	broad.mit.edu	37	chr1	3328624	3328624	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggacacgaccacggggacGggctcggacctggacagcga	9	3	16	13	5	0	0	0	0	0	0	1	6	0	4	2	6	1	1	2	6	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:3328624G>A	ENST00000378398.3	+	10	1948	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	PRDM16_ENST00000511072.1_Silent_p.T622T|PRDM16_ENST00000442529.2_Silent_p.T621T|PRDM16_ENST00000441472.2_Silent_p.T621T|PRDM16_ENST00000514189.1_Silent_p.T622T|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Silent_p.T621T|PRDM16_ENST00000378391.2_Silent_p.T621T			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	621					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCACGGGGACGGGCTCGGACC	0.657			T	EVI1	"MDS, AML"								27	64					0	0	0	0	A	3328624	G	A	3328624	2	1	328	1	0	0	0	0	0	0	0	1	12537	1103	39	1		1	PRDM16	1	3328624	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	882784	3328624	245921997	11	58225											
ARHGEF16	27237	broad.mit.edu	37	chr1	3386050	3386050	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taccagcacagcctgagcatCctggtggaggagttcctgca	9	8	12	12	0	0	1	0	1	0	0	2	3	2	3	4	3	5	4	4	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:3386050C>T	ENST00000378378.4	+	6	1320	c.915C>T	c.(913-915)atC>atT	p.I305I	ARHGEF16_ENST00000378373.1_Silent_p.I17I|ARHGEF16_ENST00000378371.2_Silent_p.I17I	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	305	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCCTGAGCATCCTGGTGGAGG	0.622													31	29					0	0	0	0	T	3386050	C	T	3386050	2	4	328	1	0	0	0	0	0	0	0	1	901	845	30	2		2	ARHGEF16	1	3386050	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	57426	3386050	245864571	12	58226											
MEGF6	1953	broad.mit.edu	37	chr1	3432004	3432004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcctggagctggaacccgGgccggcactggcagcgatgc	6	5	15	15	3	0	0	0	0	0	0	1	3	1	2	4	5	4	3	4	5	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:3432004G>A	ENST00000356575.4	-	6	918	c.692C>T	c.(691-693)cCc>cTc	p.P231L	MEGF6_ENST00000294599.4_Missense_Mutation_p.P126L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	231	EGF-like 3.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CTGGAACCCGGGCCGGCACTG	0.667													14	12					0	0	0	0	A	3432004	G	A	3432004	3	1	328	1	0	0	0	0	1	0	0	0	9531	1232	43	4	4061	4	MEGF6	1	3432004	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	45954	3432004	245818617	13	58227											
AJAP1	55966	broad.mit.edu	37	chr1	4834619	4834619	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgccgtgtgtctgtttcacgGtaggtacctctctttggaca	5	14	11	11	3	3	0	1	0	2	0	4	1	3	1	2	3	1	3	2	3	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:4834619G>A	ENST00000378191.4	+	5	1676		c.e5+1		AJAP1_ENST00000378190.3_Splice_Site	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1						cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTGTTTCACGGTAGGTACCTC	0.537													9	32					0	0	0	0	A	4834619	G	A	4834619	5	1	328	1	0	0	0	0	0	0	1	0	438	1275	44	4		4	AJAP1	1	4834619	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1402615	4834619	244416002	14	58228											
NPHP4	261734	broad.mit.edu	37	chr1	6007209	6007209	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgaacacgtactccagctgGaagatgaccgcaaatgcagg	13	6	11	11	2	0	3	0	2	0	1	1	4	1	4	2	2	4	4	2	2	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:6007209G>A	ENST00000378156.4	-	9	1339	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	358					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCAGCTGGAAGATGACCG	0.572													27	26					0	0	0	0	A	6007209	G	A	6007209	2	1	328	1	0	0	0	0	0	0	0	1	10651	1165	41	2		2	NPHP4	1	6007209	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1172590	6007209	243243412	15	58229											
PHF13	148479	broad.mit.edu	37	chr1	6680239	6680239	+	Missense_Mutation	SNP	C	C	T																															cccctgctcgggctgggactCcgatactccctcgagtggat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:6680239C>T	ENST00000377648.4	+	3	900	c.518C>T	c.(517-519)tCc>tTc	p.S173F	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	173					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GGCTGGGACTCCGATACTCCC	0.587													11	23					0	0	0	0	T	6680239	C	T	6680239	3	4	328	1	0	0	0	0	1	0	0	0	11896	855	30	2	528	2	PHF13	1	6680239	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	673030	6680239	242570382	16	58230	478	2									
PHF13	148479	broad.mit.edu	37	chr1	6680240	6680240	+	Silent	SNP	C	C	T																															ccctgctcgggctgggactcCgatactccctcgagtggatc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:6680240C>T	ENST00000377648.4	+	3	901	c.519C>T	c.(517-519)tcC>tcT	p.S173S	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	173					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GCTGGGACTCCGATACTCCCT	0.587													11	23					0	0	0	0	T	6680240	C	T	6680240	2	4	328	1	0	0	0	0	0	0	0	1	11896	639	23	1		1	PHF13	1	6680240	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	6680240	242570381	17	58231	478	2									
CAMTA1	23261	broad.mit.edu	37	chr1	7724812	7724812	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcgccggcggcgtccccatCctcccgggcaacgtggtgca	5	5	14	17	6	0	0	0	0	0	0	3	0	3	0	5	4	3	2	5	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:7724812C>T	ENST00000303635.7	+	9	2412	c.2205C>T	c.(2203-2205)atC>atT	p.I735I	CAMTA1_ENST00000439411.2_Silent_p.I735I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGTCCCCATCCTCCCGGGCA	0.652			T	WWTR1	epitheliod hemangioendothelioma								34	43					0	0	0	0	T	7724812	C	T	7724812	2	4	328	1	0	0	0	0	0	0	0	1	2638	845	30	2		2	CAMTA1	1	7724812	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1044572	7724812	241525809	18	58232											
CAMTA1	23261	broad.mit.edu	37	chr1	7725001	7725001	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggcaccagctggtgtcgggGgacagcacggcgctctcaca	7	5	16	13	3	1	0	1	0	1	0	3	1	1	1	1	5	2	4	1	5	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:7725001G>A	ENST00000303635.7	+	9	2601	c.2394G>A	c.(2392-2394)ggG>ggA	p.G798G	CAMTA1_ENST00000439411.2_Silent_p.G798G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGGTGTCGGGGGACAGCACGG	0.642			T	WWTR1	epitheliod hemangioendothelioma								109	85					0	0	0	0	A	7725001	G	A	7725001	2	1	328	1	0	0	0	0	0	0	0	1	2638	1219	43	4		4	CAMTA1	1	7725001	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	189	7725001	241525620	19	58233											
PARK7	11315	broad.mit.edu	37	chr1	8022903	8022903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcagaggaaatggagacgGtcatccctgtagatgtcatg	12	8	14	7	1	2	3	2	0	0	3	3	6	3	4	1	3	1	2	1	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:8022903G>A	ENST00000493678.1	+	2	125	c.58G>A	c.(58-60)Gtc>Atc	p.V20I	PARK7_ENST00000377493.5_Missense_Mutation_p.V20I|PARK7_ENST00000377491.1_Missense_Mutation_p.V20I|PARK7_ENST00000338639.5_Missense_Mutation_p.V20I|PARK7_ENST00000377488.1_Missense_Mutation_p.V20I|PARK7_ENST00000497113.1_3'UTR			Q99497	PARK7_HUMAN	parkinson protein 7	20					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		AATGGAGACGGTCATCCCTGT	0.363													45	14					0	0	0	0	A	8022903	G	A	8022903	3	1	328	1	0	0	0	0	1	0	0	0	11521	1261	44	4	60	4	PARK7	1	8022903	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	297902	8022903	241227718	20	58234											
RERE	473	broad.mit.edu	37	chr1	8418746	8418746	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcatgtggtaggccagcagGgggtccgtggggttaagggg	6	7	22	6	1	0	0	0	0	0	0	1	0	1	0	2	9	1	4	2	9	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:8418746G>A	ENST00000337907.3	-	21	4483	c.3849C>T	c.(3847-3849)ccC>ccT	p.P1283P	RERE_ENST00000377464.1_Silent_p.P1015P|RERE_ENST00000400908.2_Silent_p.P1283P|RERE_ENST00000476556.1_Silent_p.P729P|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1283					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGCCAGCAGGGGGTCCGTGG	0.672													21	33					0	0	0	0	A	8418746	G	A	8418746	2	1	328	1	0	0	0	0	0	0	0	1	13313	1219	43	4		4	RERE	1	8418746	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	395843	8418746	240831875	21	58235											
RERE	473	broad.mit.edu	37	chr1	8420763	8420763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgccggcagctgggggatgGgagtggtaggcgggggcttg	4	6	24	7	3	0	0	0	0	0	0	0	2	0	2	1	8	1	4	1	8	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:8420763G>A	ENST00000337907.3	-	19	3438	c.2804C>T	c.(2803-2805)cCc>cTc	p.P935L	RERE_ENST00000377464.1_Missense_Mutation_p.P667L|RERE_ENST00000400908.2_Missense_Mutation_p.P935L|RERE_ENST00000476556.1_Missense_Mutation_p.P381L|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	935	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTGGGGGATGGGAGTGGTAGG	0.697													12	26					0	0	0	0	A	8420763	G	A	8420763	3	1	328	1	0	0	0	0	1	0	0	0	13313	1232	43	4	1920	4	RERE	1	8420763	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2017	8420763	240829858	22	58236											
RERE	473	broad.mit.edu	37	chr1	8716264	8716264	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtggccttgaattctcactCtctcttgctttgtctctttt	3	20	6	12	1	4	1	1	1	4	0	7	1	4	1	1	1	1	1	1	1	1	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:8716264C>T	ENST00000337907.3	-	3	727	c.93G>A	c.(91-93)gaG>gaA	p.E31E	RERE_ENST00000400908.2_Silent_p.E31E|RERE_ENST00000400907.2_Silent_p.E31E	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	31					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AATTCTCACTCTCTCTTGCTT	0.493													100	81					0	0	0	0	T	8716264	C	T	8716264	2	4	328	1	0	0	0	0	0	0	0	1	13313	912	32	2		2	RERE	1	8716264	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	295501	8716264	240534357	23	58237											
GPR157	80045	broad.mit.edu	37	chr1	9188805	9188805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaatggccacggtccagaaGaaggagctggtgttggcgaa	11	6	16	8	2	0	2	0	0	0	2	1	4	1	3	2	5	1	3	2	5	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:9188805G>A	ENST00000377411.4	-	1	424	c.282C>T	c.(280-282)ttC>ttT	p.F94F	GPR157_ENST00000414642.2_Silent_p.F94F	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	94						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CGGTCCAGAAGAAGGAGCTGG	0.652													10	11					0	0	0	0	A	9188805	G	A	9188805	2	1	328	1	0	0	0	0	0	0	0	1	6711	933	33	2		2	GPR157	1	9188805	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	472541	9188805	240061816	24	58238											
TMEM201	199953	broad.mit.edu	37	chr1	9657024	9657024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgcagccgcagcagtgggtGagcagccaagtcctgctgtg	7	7	15	12	2	0	1	0	1	0	0	2	1	1	1	3	1	5	5	3	1	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:9657024G>A	ENST00000340305.5	+	3	351	c.342G>A	c.(340-342)gtG>gtA	p.V114V	TMEM201_ENST00000340381.6_Silent_p.V114V|TMEM201_ENST00000377376.4_Silent_p.V114V	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	114						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAGTGGGTGAGCAGCCAAG	0.652													15	46					0	0	0	0	A	9657024	G	A	9657024	2	1	328	1	0	0	0	0	0	0	0	1	16220	1277	45	2		2	TMEM201	1	9657024	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	468219	9657024	239593597	25	58239											
TMEM201	199953	broad.mit.edu	37	chr1	9662281	9662281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctggttggcttcacggcgGctgtggccacaaggaaggca	7	7	16	11	2	1	0	1	0	0	0	1	1	1	1	2	7	0	4	2	7	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:9662281G>A	ENST00000340305.5	+	6	1120	c.1111G>A	c.(1111-1113)Gct>Act	p.A371T	TMEM201_ENST00000340381.6_Missense_Mutation_p.A371T|TMEM201_ENST00000377376.4_Missense_Mutation_p.A371T	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	371						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CTTCACGGCGGCTGTGGCCAC	0.652													20	16					0	0	0	0	A	9662281	G	A	9662281	3	1	328	1	0	0	0	0	1	0	0	0	16220	1203	42	4	1133	4	TMEM201	1	9662281	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5257	9662281	239588340	26	58240											
FBXO44	93611	broad.mit.edu	37	chr1	11716069	11716069	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagagggcttcatcactgaGgactgggaccagcccgtggc	8	6	15	12	2	2	2	2	1	0	1	2	5	2	4	2	4	1	1	2	4	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:11716069G>A	ENST00000376770.1	+	3	675	c.177G>A	c.(175-177)gaG>gaA	p.E59E	FBXO44_ENST00000251547.5_Silent_p.E59E|FBXO44_ENST00000251546.4_Silent_p.E59E|FBXO44_ENST00000376762.4_Silent_p.E59E|FBXO44_ENST00000376760.1_Silent_p.E59E|FBXO44_ENST00000376768.1_Silent_p.E59E	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	59					protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCACTGAGGACTGGGACC	0.617													19	76					0	0	0	0	A	11716069	G	A	11716069	2	1	328	1	0	0	0	0	0	0	0	1	5798	991	35	4		4	FBXO44	1	11716069	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2053788	11716069	237534552	27	58241											
NPPA	4878	broad.mit.edu	37	chr1	11907258	11907258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctccgcaggctccgagggGcagtgagcagcgccctcagc	7	5	14	15	3	2	1	1	1	1	0	4	2	3	1	3	3	3	4	3	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:11907258G>A	ENST00000376480.3	-	2	460	c.362C>T	c.(361-363)gCc>gTc	p.A121V	NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.A71V	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	121					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCCGAGGGGCAGTGAGCAG	0.642													73	88					0	0	0	0	A	11907258	G	A	11907258	3	1	328	1	0	0	0	0	1	0	0	0	10662	1203	42	4	101	4	NPPA	1	11907258	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	191189	11907258	237343363	28	58242											
NPPA	4878	broad.mit.edu	37	chr1	11907497	11907497	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaaatggtccagcaaattCtttagaaaaggaaaatacag	18	9	7	7	0	1	1	0	0	1	1	3	2	3	2	2	2	2	1	2	2	8	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:11907497C>T	ENST00000376480.3	-	2	222		c.e2-1		NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Splice_Site	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A						cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCAAATTCTTTAGAAAAG	0.498													20	31					0	0	0	0	T	11907497	C	T	11907497	5	4	328	1	0	0	0	0	0	0	1	0	10662	927	32	2	340	2	NPPA	1	11907497	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	239	11907497	237343124	29	58243											
MFN2	9927	broad.mit.edu	37	chr1	12064978	12064978	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaccatgcagcaggacAtgataggttagtgcccatgg	11	8	13	9	0	0	2	0	1	0	1	0	3	0	3	2	3	4	4	2	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:12064978A>G	ENST00000235329.5	+	14	1811	c.1489A>G	c.(1489-1491)Atg>Gtg	p.M497V	MFN2_ENST00000444836.1_Missense_Mutation_p.M497V	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	497					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCAGCAGGACATGATAGGTTA	0.572													11	8					0	0	0	0	G	12064978	A	G	12064978	3	3	328	1	0	0	0	0	1	0	0	0	9593	217	8	5	1535	5	MFN2	1	12064978	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	157481	12064978	237185643	30	58244											
VPS13D	55187	broad.mit.edu	37	chr1	12337250	12337250	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaagtataggtggcaccaAagttaatgtctcaatgggta	13	11	11	6	0	1	0	1	0	1	0	2	0	1	0	1	3	1	5	1	3	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:12337250A>G	ENST00000358136.3	+	19	3735	c.3605A>G	c.(3604-3606)aAa>aGa	p.K1202R	VPS13D_ENST00000356315.4_Missense_Mutation_p.K1202R	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1202					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTGGCACCAAAGTTAATGTC	0.403													58	78					0	0	0	0	G	12337250	A	G	12337250	3	3	328	1	0	0	0	0	1	0	0	0	17288	14	1	5	3675	5	VPS13D	1	12337250	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	272272	12337250	236913371	31	58245											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854112	12854112	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggatgttgacgagaatttCtgggccagatggcctggagc	8	9	16	8	2	1	3	0	1	1	2	1	6	1	5	2	4	1	1	2	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:12854112C>T	ENST00000332296.7	+	3	439	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	112										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACGAGAATTTCTGGGCCAGAT	0.547													27	234					0	0	0	0	T	12854112	C	T	12854112	2	4	328	1	0	0	0	0	0	0	0	1	12501	912	32	2		2	PRAMEF1	1	12854112	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	516862	12854112	236396509	32	58246											
PRAMEF11	440560	broad.mit.edu	37	chr1	12884919	12884919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctcactttcttcatcaGctcagccctaatttgagcaa	9	13	6	13	0	5	1	4	1	1	0	5	1	5	1	2	0	4	2	2	0	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:12884919G>A	ENST00000535591.1	-	4	1387	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	398										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTCTTCATCAGCTCAGCCCTA	0.498													59	127					0	0	0	0	A	12884919	G	A	12884919	2	1	328	1	0	0	0	0	0	0	0	1	12503	962	34	4		4	PRAMEF11	1	12884919	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	30807	12884919	236365702	33	58247											
PRAMEF2	65122	broad.mit.edu	37	chr1	12919596	12919596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggatgttgatgagaatttCtgggccagatggcctggagc	8	10	16	7	1	1	3	0	2	1	2	1	6	1	5	2	4	1	1	2	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:12919596C>T	ENST00000240189.2	+	3	423	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	112										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAGAATTTCTGGGCCAGAT	0.557													39	37					0	0	0	0	T	12919596	C	T	12919596	2	4	328	1	0	0	0	0	0	0	0	1	12512	912	32	2		2	PRAMEF2	1	12919596	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	34677	12919596	236331025	34	58248											
SPEN	23013	broad.mit.edu	37	chr1	16256527	16256527	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actggtggttctcccagtgtCcgacatggttccttccatga	6	13	10	12	1	1	1	0	1	1	0	5	2	4	1	4	3	0	2	4	3	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16256527C>T	ENST00000375759.3	+	11	3996	c.3792C>T	c.(3790-3792)gtC>gtT	p.V1264V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1264					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCCCAGTGTCCGACATGGTT	0.463													19	72					0	0	0	0	T	16256527	C	T	16256527	2	4	328	1	0	0	0	0	0	0	0	1	15128	842	30	2		2	SPEN	1	16256527	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3336931	16256527	232994094	35	58249											
SPEN	23013	broad.mit.edu	37	chr1	16260017	16260017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccaaccaaagcatctgtgCccccagaccttcccccacct	9	7	4	21	0	1	1	0	0	1	1	3	1	3	1	8	0	3	1	8	0	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16260017C>T	ENST00000375759.3	+	11	7486	c.7282C>T	c.(7282-7284)Ccc>Tcc	p.P2428S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2428	Interaction with MSX2 (By similarity).|Pro-rich.|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGCATCTGTGCCCCCAGACCT	0.547													10	6					0	0	0	0	T	16260017	C	T	16260017	3	4	328	1	0	0	0	0	1	0	0	0	15128	739	26	4	7324	4	SPEN	1	16260017	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3490	16260017	232990604	36	58250											
CLCNKB	1188	broad.mit.edu	37	chr1	16383003	16383003	+	Splice_Site	SNP	G	G	A																															ggctgcgtgtcctgggtggaGgtaccagggtcccgggggca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16383003G>A	ENST00000375679.4	+	19	2127	c.2016_splice	c.e19+1	p.E672_splice	CLCNKB_ENST00000375667.3_Splice_Site_p.E502_splice	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGGTGGAGGTACCAGGGT	0.627											OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	65					0	0	0	0	A	16383003	G	A	16383003	5	1	328	1	0	0	0	0	0	0	1	0	3500	1014	35	4	2234	4	CLCNKB	1	16383003	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	122986	16383003	232867618	37	58251	479	2									
CLCNKB	1188	broad.mit.edu	37	chr1	16383004	16383004	+	Splice_Site	SNP	G	G	A																															gctgcgtgtcctgggtggagGtaccagggtcccgggggcag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16383004G>A	ENST00000375679.4	+	19	2127		c.e19+1		CLCNKB_ENST00000375667.3_Splice_Site	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGTGGAGGTACCAGGGTC	0.627											OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	64					0	0	0	0	A	16383004	G	A	16383004	5	1	328	1	0	0	0	0	0	0	1	0	3500	1275	44	4	2235	4	CLCNKB	1	16383004	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	16383004	232867617	38	58252	479	2									
NBPF1	55672	broad.mit.edu	37	chr1	16895700	16895700	+	Missense_Mutation	SNP	G	G	A																															ttcatcccaggactcctgggGgacttcctcctcttcagact																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16895700G>A	ENST00000430580.2	-	23	3369	c.2482C>T	c.(2482-2484)Ccc>Tcc	p.P828S	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	828	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GACTCCTGGGGGACTTCCTCC	0.478													24	297					0	0	0	0	A	16895700	G	A	16895700	3	1	328	1	0	0	0	0	1	0	0	0	10262	1232	43	4	970	4	NBPF1	1	16895700	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	512696	16895700	232354921	39	58253	480	2									
NBPF1	55672	broad.mit.edu	37	chr1	16895701	16895701	+	Silent	SNP	G	G	A																															tcatcccaggactcctggggGacttcctcctcttcagactc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16895701G>A	ENST00000430580.2	-	23	3368	c.2481C>T	c.(2479-2481)gtC>gtT	p.V827V	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	827	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACTCCTGGGGGACTTCCTCCT	0.483													24	298					0	0	0	0	A	16895701	G	A	16895701	2	1	328	1	0	0	0	0	0	0	0	1	10262	1161	41	2		2	NBPF1	1	16895701	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	16895701	232354920	40	58254	480	2									
PADI3	51702	broad.mit.edu	37	chr1	17597416	17597416	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgacactgtggtgttcCgagtggcaccctggatcatg	7	11	12	11	1	2	1	2	1	0	0	3	3	3	2	2	3	0	2	2	3	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:17597416C>T	ENST00000375460.3	+	8	914	c.874C>T	c.(874-876)Cga>Tga	p.R292*		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	292					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGTGGTGTTCCGAGTGGCACC	0.622													13	33					0	0	0	0	T	17597416	C	T	17597416	4	4	328	1	0	0	0	0	0	1	0	0	11450	644	23	1	904	1	PADI3	1	17597416	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	701715	17597416	231653205	41	58255											
PADI3	51702	broad.mit.edu	37	chr1	17607202	17607202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accgtgaggtgctgaagcggGagctgggcctggcagagtgt	7	7	19	8	2	0	3	0	2	0	1	0	4	0	4	2	4	3	3	2	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:17607202G>A	ENST00000375460.3	+	15	1712	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	558					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCTGAAGCGGGAGCTGGGCCT	0.592													26	72					0	0	0	0	A	17607202	G	A	17607202	3	1	328	1	0	0	0	0	1	0	0	0	11450	1175	41	2	1730	2	PADI3	1	17607202	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	9786	17607202	231643419	42	58256											
IGSF21	84966	broad.mit.edu	37	chr1	18661444	18661444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgccatgtgggcatctacGaccgcgccaccagggagaag	10	5	14	12	3	1	1	0	0	1	1	1	3	1	1	4	2	2	1	4	2	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:18661444G>A	ENST00000251296.1	+	4	747	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	122	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGGCATCTACGACCGCGCCAC	0.622													27	21					0	0	0	0	A	18661444	G	A	18661444	3	1	328	1	0	0	0	0	1	0	0	0	7652	1058	37	1	378	1	IGSF21	1	18661444	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1054242	18661444	230589177	43	58257											
UBR4	23352	broad.mit.edu	37	chr1	19440289	19440289	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgattcacactggcagaagtGgagctgatgccccctgctgt	8	9	12	12	1	1	2	1	1	0	1	1	4	1	3	2	2	3	3	2	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:19440289G>T	ENST00000375267.2	-	77	11364	c.11361C>A	c.(11359-11361)tcC>tcA	p.S3787S	UBR4_ENST00000375254.3_Silent_p.S3787S|UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375226.2_Silent_p.S3763S|UBR4_ENST00000375217.2_Silent_p.S3780S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3787					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGCAGAAGTGGAGCTGATGC	0.512											OREG0013168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	78	36					1.10345e-40	1.12949e-40	1	0	T	19440289	G	T	19440289	2	4	328	1	0	0	0	0	0	0	0	1	17000	1335	47	4		4	UBR4	1	19440289	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	778845	19440289	229810332	44	58258											
UBR4	23352	broad.mit.edu	37	chr1	19493610	19493610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatcagactcagcagggcCcaagatgcgttccagggagt	10	7	12	12	1	3	2	3	0	0	2	4	3	4	3	2	2	2	2	2	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:19493610C>T	ENST00000375267.2	-	29	4018	c.4015G>A	c.(4015-4017)Ggc>Agc	p.G1339S	UBR4_ENST00000375254.3_Missense_Mutation_p.G1339S|UBR4_ENST00000375226.2_Missense_Mutation_p.G1339S|UBR4_ENST00000375217.2_Missense_Mutation_p.G1339S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1339					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAGCAGGGCCCAAGATGCGT	0.493													35	33					0	0	0	0	T	19493610	C	T	19493610	3	4	328	1	0	0	0	0	1	0	0	0	17000	623	22	4	11848	4	UBR4	1	19493610	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	53321	19493610	229757011	45	58259											
PLA2G2A	5320	broad.mit.edu	37	chr1	20302328	20302328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagttgacttctgcaggagtCctgttttgctgaaatcataa	10	14	9	8	0	2	2	1	2	1	0	3	3	3	3	1	1	2	4	1	1	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:20302328C>T	ENST00000375111.3	-	6	572	c.301G>A	c.(301-303)Gac>Aac	p.D101N	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.D101N	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	101					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGGAGTCCTGTTTTGCT	0.423													20	22					0	0	0	0	T	20302328	C	T	20302328	3	4	328	1	0	0	0	0	1	0	0	0	12067	855	30	2	137	2	PLA2G2A	1	20302328	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	808718	20302328	228948293	46	58260											
USP48	84196	broad.mit.edu	37	chr1	22028022	22028022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggatctttttctccatctGgtttagcttcttccttgtcc	3	20	6	12	0	4	0	0	0	4	0	7	1	6	1	3	2	1	2	3	2	1	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22028022G>A	ENST00000308271.9	-	22	3344	c.2696C>T	c.(2695-2697)cCa>cTa	p.P899L	USP48_ENST00000529637.1_Missense_Mutation_p.P911L|USP48_ENST00000374732.3_Missense_Mutation_p.P437L|USP48_ENST00000400301.1_Missense_Mutation_p.P899L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	899					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTCTCCATCTGGTTTAGCTTC	0.428													7	36					0	0	0	0	A	22028022	G	A	22028022	3	1	328	1	0	0	0	0	1	0	0	0	17175	1348	47	4	435	4	USP48	1	22028022	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1725694	22028022	227222599	47	58261											
HSPG2	3339	broad.mit.edu	37	chr1	22178595	22178595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtacctggtgccgggcagGgaggctgcccccacgcttgt	4	8	15	14	2	0	0	0	0	0	0	0	1	0	1	4	4	3	4	4	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22178595G>A	ENST00000374695.3	-	53	6935	c.6856C>T	c.(6856-6858)Cct>Tct	p.P2286S	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2286	Ig-like C2-type 8.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGCCGGGCAGGGAGGCTGCCC	0.667													16	47					0	0	0	0	A	22178595	G	A	22178595	3	1	328	1	0	0	0	0	1	0	0	0	7483	1232	43	4	6499	4	HSPG2	1	22178595	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	150573	22178595	227072026	48	58262											
HSPG2	3339	broad.mit.edu	37	chr1	22201441	22201441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgttccacttccagcgcGgggtcctggccggtttcctc	3	11	11	16	3	0	0	0	0	0	0	5	0	4	0	5	4	1	2	5	4	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22201441G>A	ENST00000374695.3	-	26	3436	c.3357C>T	c.(3355-3357)ccC>ccT	p.P1119P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1119	Laminin IV type A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTTCCAGCGCGGGGTCCTGGC	0.682													4	11					0	0	0	0	A	22201441	G	A	22201441	2	1	328	1	0	0	0	0	0	0	0	1	7483	1103	39	1		1	HSPG2	1	22201441	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	22846	22201441	227049180	49	58263											
HSPG2	3339	broad.mit.edu	37	chr1	22206875	22206875	+	Missense_Mutation	SNP	G	G	A																															cctgcactcctccacactgtGggcacggccatggctggtgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22206875G>A	ENST00000374695.3	-	16	2255	c.2176C>T	c.(2176-2178)Cac>Tac	p.H726Y		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	726	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCCACACTGTGGGCACGGCCA	0.617													16	15					0	0	0	0	A	22206875	G	A	22206875	3	1	328	1	0	0	0	0	1	0	0	0	7483	1348	47	4	11327	4	HSPG2	1	22206875	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5434	22206875	227043746	50	58264	481	2									
HSPG2	3339	broad.mit.edu	37	chr1	22206876	22206876	+	Silent	SNP	G	G	A																															ctgcactcctccacactgtgGgcacggccatggctggtggc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22206876G>A	ENST00000374695.3	-	16	2254	c.2175C>T	c.(2173-2175)gcC>gcT	p.A725A		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	725	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCACACTGTGGGCACGGCCAT	0.617													17	15					0	0	0	0	A	22206876	G	A	22206876	2	1	328	1	0	0	0	0	0	0	0	1	7483	1219	43	4		4	HSPG2	1	22206876	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	22206876	227043745	51	58265	481	2									
ZBTB40	9923	broad.mit.edu	37	chr1	22835697	22835697	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acaagctctttacctcggagGaggagcacctggcagagact	11	7	12	11	1	1	1	0	0	1	1	2	5	1	4	2	4	3	3	2	4	2	2	rs150068799		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22835697G>C	ENST00000404138.1	+	10	2315	c.1804G>C	c.(1804-1806)Gag>Cag	p.E602Q	ZBTB40_ENST00000374651.4_Missense_Mutation_p.E490Q|ZBTB40_ENST00000375647.4_Missense_Mutation_p.E602Q	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	602					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TACCTCGGAGGAGGAGCACCT	0.473													13	51					0	0	0	0	C	22835697	G	C	22835697	3	2	328	1	0	0	0	0	1	0	0	0	17637	1175	41	2	1834	2	ZBTB40	1	22835697	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	628821	22835697	226414924	52	58266											
EPHA8	2046	broad.mit.edu	37	chr1	22927811	22927811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgcccaccccctgccttCgtccggagctgctttgacct	4	10	10	17	2	0	1	0	1	0	0	2	2	1	2	6	2	4	2	6	2	0	2	rs150592901	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22927811C>T	ENST00000166244.3	+	16	2820	c.2748C>T	c.(2746-2748)ttC>ttT	p.F916F		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	916						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCCTGCCTTCGTCCGGAGCT	0.687													38	42					0	0	0	0	T	22927811	C	T	22927811	2	4	328	1	0	0	0	0	0	0	0	1	5211	883	31	1		1	EPHA8	1	22927811	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	92114	22927811	226322810	53	58267											
C1QA	712	broad.mit.edu	37	chr1	22965568	22965568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgtggtcatcttcgacacgGtcatcaccaaccaggaagaa	13	7	9	12	3	4	1	3	0	1	1	5	3	4	2	2	3	1	0	2	3	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22965568G>A	ENST00000374642.3	+	3	610	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	C1QA_ENST00000402322.1_Missense_Mutation_p.V136I	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	136	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTTCGACACGGTCATCACCAA	0.602													10	34					0	0	0	0	A	22965568	G	A	22965568	3	1	328	1	0	0	0	0	1	0	0	0	1973	1261	44	4	412	4	C1QA	1	22965568	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	37757	22965568	226285053	54	58268											
HTR1D	3352	broad.mit.edu	37	chr1	23520170	23520170	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagtccgacatctcctcctgGgccttggcctgccgccagaa	6	8	10	17	2	1	1	0	0	1	1	4	2	3	1	7	2	1	0	7	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:23520170G>A	ENST00000374619.1	-	1	1052	c.543C>T	c.(541-543)gcC>gcT	p.A181A	HTR1D_ENST00000314113.3_Silent_p.A181A	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	181					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCTCCTCCTGGGCCTTGGCCT	0.602													20	42					0	0	0	0	A	23520170	G	A	23520170	2	1	328	1	0	0	0	0	0	0	0	1	7491	1219	43	4		4	HTR1D	1	23520170	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	554602	23520170	225730451	55	58269											
NIPAL3	57185	broad.mit.edu	37	chr1	24790575	24790575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaggaagaagcccattcCatttgagccctatatttcca	13	11	6	11	0	0	2	0	1	0	1	2	3	2	3	4	1	3	0	4	1	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:24790575C>T	ENST00000003912.3	+	12	1455	c.740C>T	c.(739-741)cCa>cTa	p.P247L	NIPAL3_ENST00000374399.4_Missense_Mutation_p.P329L|NIPAL3_ENST00000339255.2_Missense_Mutation_p.P329L			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	329						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						AAGCCCATTCCATTTGAGCCC	0.463													6	19					0	0	0	0	T	24790575	C	T	24790575	3	4	328	1	0	0	0	0	1	0	0	0	10496	594	21	4	1024	4	NIPAL3	1	24790575	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1270405	24790575	224460046	56	58270											
EXTL1	2134	broad.mit.edu	37	chr1	26349152	26349152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggccacatgcagtcgtggagGagaagaaagtccctgtggct	10	7	15	9	1	0	2	0	0	0	2	2	4	1	3	2	4	1	2	2	4	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:26349152G>A	ENST00000374280.3	+	1	882	c.15G>A	c.(13-15)agG>agA	p.R5R		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	5					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGTCGTGGAGGAGAAGAAAGT	0.647													20	28					0	0	0	0	A	26349152	G	A	26349152	2	1	328	1	0	0	0	0	0	0	0	1	5363	1165	41	2		2	EXTL1	1	26349152	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1558577	26349152	222901469	57	58271											
CNKSR1	10256	broad.mit.edu	37	chr1	26510594	26510594	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctggactccccgcaccaGaggagcccatcactgtctct	7	8	9	17	1	2	1	1	0	1	1	5	3	4	3	5	2	1	1	5	2	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:26510594G>A	ENST00000531191.1	+	9	1121	c.114G>A	c.(112-114)caG>caA	p.Q38Q	CNKSR1_ENST00000374253.5_Silent_p.Q303Q|CNKSR1_ENST00000361530.6_Silent_p.Q296Q			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	303	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGCACCAGAGGAGCCCAT	0.617													17	51					0	0	0	0	A	26510594	G	A	26510594	2	1	328	1	0	0	0	0	0	0	0	1	3636	933	33	2		2	CNKSR1	1	26510594	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	161442	26510594	222740027	58	58272											
AIM1L	55057	broad.mit.edu	37	chr1	26664049	26664049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcctccgagaactctcagGgaccccacagaggccaggtg	10	4	12	15	1	1	2	1	0	1	2	3	4	2	3	5	3	2	0	5	3	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:26664049G>A	ENST00000527815.1	-	8	1051	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S	AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000308182.5_Silent_p.S163S	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	163	Beta/gamma crystallin 'Greek key' 7.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GAACTCTCAGGGACCCCACAG	0.607													25	23					0	0	0	0	A	26664049	G	A	26664049	2	1	328	1	0	0	0	0	0	0	0	1	431	1219	43	4		4	AIM1L	1	26664049	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	153455	26664049	222586572	59	58273											
ZNF683	257101	broad.mit.edu	37	chr1	26691179	26691179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccatgccaccacgctcCaggcctggggagtcggttgg	6	7	15	13	2	0	0	0	0	0	0	2	2	1	1	5	5	2	2	5	5	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:26691179C>T	ENST00000436292.1	-	4	978	c.858G>A	c.(856-858)ctG>ctA	p.L286L	ZNF683_ENST00000349618.3_Silent_p.L286L|ZNF683_ENST00000403843.1_Silent_p.L286L|ZNF683_ENST00000374204.1_Silent_p.L286L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CACCACGCTCCAGGCCTGGGG	0.612													20	67					0	0	0	0	T	26691179	C	T	26691179	2	4	328	1	0	0	0	0	0	0	0	1	18185	581	21	4		4	ZNF683	1	26691179	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	27130	26691179	222559442	60	58274											
ARID1A	8289	broad.mit.edu	37	chr1	27101169	27101169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accacaaatgatgggcggccCcatacaggcatcagctgagg	12	5	12	12	1	1	2	1	2	0	0	1	2	1	2	3	4	2	2	3	4	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:27101169C>T	ENST00000324856.7	+	18	4822	c.4451C>T	c.(4450-4452)cCc>cTc	p.P1484L	ARID1A_ENST00000374152.2_Missense_Mutation_p.P1101L|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1484					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGGGCGGCCCCATACAGGCA	0.567			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								29	65					0	0	0	0	T	27101169	C	T	27101169	3	4	328	1	0	0	0	0	1	0	0	0	915	623	22	4	4521	4	ARID1A	1	27101169	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	409990	27101169	222149452	61	58275											
GPATCH3	63906	broad.mit.edu	37	chr1	27224200	27224200	+	Silent	SNP	G	G	A																															agttccttccgggtcttgaaGggaaaggagcccagaccttg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:27224200G>A	ENST00000361720.5	-	2	491	c.468C>T	c.(466-468)ccC>ccT	p.P156P		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	156						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GGGTCTTGAAGGGAAAGGAGC	0.517													5	15					0	0	0	0	A	27224200	G	A	27224200	2	1	328	1	0	0	0	0	0	0	0	1	6641	987	35	4		4	GPATCH3	1	27224200	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	123031	27224200	222026421	62	58276	482	2									
GPATCH3	63906	broad.mit.edu	37	chr1	27224201	27224201	+	Missense_Mutation	SNP	G	G	A																															gttccttccgggtcttgaagGgaaaggagcccagaccttgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:27224201G>A	ENST00000361720.5	-	2	490	c.467C>T	c.(466-468)cCc>cTc	p.P156L		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	156						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GGTCTTGAAGGGAAAGGAGCC	0.517													5	15					0	0	0	0	A	27224201	G	A	27224201	3	1	328	1	0	0	0	0	1	0	0	0	6641	1232	43	4	1134	4	GPATCH3	1	27224201	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	27224201	222026420	63	58277	482	2									
AHDC1	27245	broad.mit.edu	37	chr1	27876729	27876729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtccagcagcggggcggtGagcaccgtccagcgcactgg	6	5	17	13	4	0	1	0	1	0	0	2	1	2	1	3	4	4	3	3	4	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:27876729G>A	ENST00000374011.2	-	6	2866	c.1898C>T	c.(1897-1899)tCa>tTa	p.S633L	AHDC1_ENST00000247087.5_Missense_Mutation_p.S633L|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	633							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCGGGGCGGTGAGCACCGTCC	0.662													35	71					0	0	0	0	A	27876729	G	A	27876729	3	1	328	1	0	0	0	0	1	0	0	0	412	1294	45	2	2917	2	AHDC1	1	27876729	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	652528	27876729	221373892	64	58278											
AHDC1	27245	broad.mit.edu	37	chr1	27878366	27878366	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgagacaggacgggctgcCcgtgggggcagcgggtcgtc	5	6	20	10	4	0	1	0	1	0	1	2	3	0	2	1	5	2	2	1	5	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:27878366C>T	ENST00000374011.2	-	6	1229	c.261G>A	c.(259-261)cgG>cgA	p.R87R	AHDC1_ENST00000247087.5_Silent_p.R87R|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	87	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GACGGGCTGCCCGTGGGGGCA	0.741													21	50					0	0	0	0	T	27878366	C	T	27878366	2	4	328	1	0	0	0	0	0	0	0	1	412	610	22	4		4	AHDC1	1	27878366	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1637	27878366	221372255	65	58279											
STX12	23673	broad.mit.edu	37	chr1	28120125	28120125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagggtccttgccccttccCttatctacttcagaacaggt	7	14	7	13	0	2	1	1	0	1	1	4	1	4	1	4	2	3	0	4	2	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:28120125C>T	ENST00000373943.4	+	3	395	c.270C>T	c.(268-270)ccC>ccT	p.P90P	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	90					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCCCTTCCCTTATCTACTT	0.363													8	25					0	0	0	0	T	28120125	C	T	28120125	2	4	328	1	0	0	0	0	0	0	0	1	15428	668	24	4		4	STX12	1	28120125	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	241759	28120125	221130496	66	58280											
MECR	51102	broad.mit.edu	37	chr1	29533322	29533322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catcctgtaggctgtgcaggGattgacacccagggtggcag	8	8	15	10	0	0	1	0	1	0	0	1	2	1	2	2	4	1	4	2	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:29533322G>A	ENST00000373791.3	-	4	646	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Missense_Mutation_p.P168S	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	168					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GCTGTGCAGGGATTGACACCC	0.602													15	46					0	0	0	0	A	29533322	G	A	29533322	3	1	328	1	0	0	0	0	1	0	0	0	9493	1174	41	2	647	2	MECR	1	29533322	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1413197	29533322	219717299	67	58281											
MATN1	4146	broad.mit.edu	37	chr1	31194585	31194585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accaggtctgtgggccgcgtCcggcagagatggcctgggag	6	6	18	11	3	1	1	0	0	1	1	2	3	2	2	4	5	0	1	4	5	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:31194585C>T	ENST00000373765.4	-	2	143	c.108G>A	c.(106-108)cgG>cgA	p.R36R	MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	36	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCCGCGTCCGGCAGAGAT	0.577													12	35					0	0	0	0	T	31194585	C	T	31194585	2	4	328	1	0	0	0	0	0	0	0	1	9402	842	30	2		2	MATN1	1	31194585	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1661263	31194585	218056036	68	58282											
HCRTR1	3061	broad.mit.edu	37	chr1	32085227	32085227	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgttctggtgactgctatCtgcctgccggccagcctgct	4	11	12	14	2	2	1	0	1	2	0	2	2	2	1	4	2	5	3	4	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:32085227C>T	ENST00000403528.2	+	4	679	c.294C>T	c.(292-294)atC>atT	p.I98I	HCRTR1_ENST00000373706.5_Silent_p.I98I|HCRTR1_ENST00000373705.1_Silent_p.I98I|HCRTR1_ENST00000468521.1_Intron	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	98					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGACTGCTATCTGCCTGCCGG	0.597													3	18					0	0	0	0	T	32085227	C	T	32085227	2	4	328	1	0	0	0	0	0	0	0	1	7051	903	32	2		2	HCRTR1	1	32085227	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	890642	32085227	217165394	69	58283											
HCRTR1	3061	broad.mit.edu	37	chr1	32089206	32089206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctggagcagggcctgagtgGagagccccagccccgggccc	6	3	16	16	1	0	2	0	1	0	1	0	4	0	3	7	4	3	1	7	4	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:32089206G>A	ENST00000403528.2	+	7	1206	c.821G>A	c.(820-822)gGa>gAa	p.G274E	HCRTR1_ENST00000373706.5_Missense_Mutation_p.G274E|HCRTR1_ENST00000373705.1_Missense_Mutation_p.G274E|HCRTR1_ENST00000468521.1_3'UTR	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	274					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GGCCTGAGTGGAGAGCCCCAG	0.647													27	18					0	0	0	0	A	32089206	G	A	32089206	3	1	328	1	0	0	0	0	1	0	0	0	7051	1174	41	2	839	2	HCRTR1	1	32089206	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3979	32089206	217161415	70	58284											
COL16A1	1307	broad.mit.edu	37	chr1	32164198	32164198	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctccgggagaccccgaggGaatactcttctggagatgga	9	8	13	11	2	2	2	0	0	2	2	4	7	4	4	4	4	1	0	4	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:32164198G>A	ENST00000373672.3	-	5	792	c.276C>T	c.(274-276)ttC>ttT	p.F92F	COL16A1_ENST00000271069.6_Silent_p.F92F|COL16A1_ENST00000373668.3_Silent_p.F92F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	92	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GACCCCGAGGGAATACTCTTC	0.572													23	24					0	0	0	0	A	32164198	G	A	32164198	2	1	328	1	0	0	0	0	0	0	0	1	3703	1165	41	2		2	COL16A1	1	32164198	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	74992	32164198	217086423	71	58285											
TSSK3	81629	broad.mit.edu	37	chr1	32829353	32829353	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtctttgactgcgtgctGaatggggggccactgcctga	6	11	15	9	1	1	3	0	3	1	0	1	4	1	3	2	3	3	1	2	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:32829353G>A	ENST00000373534.3	+	2	808	c.303G>A	c.(301-303)ctG>ctA	p.L101L	FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	101	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				ACTGCGTGCTGAATGGGGGGC	0.607													45	55					0	0	0	0	A	32829353	G	A	32829353	2	1	328	1	0	0	0	0	0	0	0	1	16765	1277	45	2		2	TSSK3	1	32829353	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	665155	32829353	216421268	72	58286											
ZBTB8A	653121	broad.mit.edu	37	chr1	33058894	33058894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taagacttttattaaatcttCcttagacattagtgagaaag	15	15	6	5	0	1	3	0	1	1	3	2	4	2	3	1	0	0	0	1	0	7	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:33058894C>T	ENST00000373510.4	+	3	591	c.362C>T	c.(361-363)tCc>tTc	p.S121F	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.S121F|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						ATTAAATCTTCCTTAGACATT	0.378													19	83					0	0	0	0	T	33058894	C	T	33058894	3	4	328	1	0	0	0	0	1	0	0	0	17651	855	30	2	364	2	ZBTB8A	1	33058894	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	229541	33058894	216191727	73	58287											
YARS	8565	broad.mit.edu	37	chr1	33282827	33282827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggtgcagtttctcttcagGgctgggagcgtcccccatgg	6	10	14	11	1	2	0	1	0	1	0	4	1	3	1	2	4	2	3	2	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:33282827G>A	ENST00000373477.4	-	1	927	c.19C>T	c.(19-21)Cct>Tct	p.P7S		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	7					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCTCTTCAGGGCTGGGAGCG	0.657													51	52					0	0	0	0	A	33282827	G	A	33282827	3	1	328	1	0	0	0	0	1	0	0	0	17563	1232	43	4	1619	4	YARS	1	33282827	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	223933	33282827	215967794	74	58288											
KIAA0319L	79932	broad.mit.edu	37	chr1	35907888	35907888	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaagacaggattcccaaGgcaacaacaatgacaaaggt	17	5	9	10	0	0	2	0	1	0	1	2	3	2	3	2	3	2	1	2	3	6	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:35907888G>A	ENST00000325722.3	-	19	3063	c.2829C>T	c.(2827-2829)gcC>gcT	p.A943A	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.A380A	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	943						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGATTCCCAAGGCAACAACAA	0.448													40	89					0	0	0	0	A	35907888	G	A	35907888	2	1	328	1	0	0	0	0	0	0	0	1	8220	987	35	4		4	KIAA0319L	1	35907888	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2625061	35907888	213342733	75	58289											
KIAA0319L	79932	broad.mit.edu	37	chr1	35944661	35944661	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgggggacagcaatctgGgttttctcagaactttttac	8	13	12	8	0	2	1	1	0	2	1	3	2	2	2	0	4	3	3	0	4	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:35944661G>A	ENST00000325722.3	-	4	1053	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	273						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGCAATCTGGGTTTTCTCAG	0.527													28	26					0	0	0	0	A	35944661	G	A	35944661	2	1	328	1	0	0	0	0	0	0	0	1	8220	1219	43	4		4	KIAA0319L	1	35944661	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	36773	35944661	213305960	76	58290											
THRAP3	9967	broad.mit.edu	37	chr1	36752626	36752626	+	Silent	SNP	C	C	T																															gtggtgaggcggcggtcaccCcgtcctagccccgtgccaaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:36752626C>T	ENST00000354618.5	+	4	1019	c.795C>T	c.(793-795)ccC>ccT	p.P265P	THRAP3_ENST00000469141.2_Silent_p.P265P	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	265	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCGGTCACCCCGTCCTAGCC	0.622			T	USP6	aneurysmal bone cysts								43	39					0	0	0	0	T	36752626	C	T	36752626	2	4	328	1	0	0	0	0	0	0	0	1	15968	610	22	4		4	THRAP3	1	36752626	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	807965	36752626	212497995	77	58291	483	2									
THRAP3	9967	broad.mit.edu	37	chr1	36752627	36752627	+	Missense_Mutation	SNP	C	C	T																															tggtgaggcggcggtcacccCgtcctagccccgtgccaaaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:36752627C>T	ENST00000354618.5	+	4	1020	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C	THRAP3_ENST00000469141.2_Missense_Mutation_p.R266C	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	266	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGGTCACCCCGTCCTAGCCC	0.617			T	USP6	aneurysmal bone cysts								43	40					0	0	0	0	T	36752627	C	T	36752627	3	4	328	1	0	0	0	0	1	0	0	0	15968	652	23	1	802	1	THRAP3	1	36752627	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	36752627	212497994	78	58292	483	2									
EPHA10	284656	broad.mit.edu	37	chr1	38227500	38227500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccggctgccgcctaggcGgggacgcccacggcccaggt	4	3	18	16	5	0	0	0	0	0	0	0	1	0	1	5	7	1	1	5	7	1	1	rs45567442		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:38227500G>A	ENST00000373048.4	-	3	426	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	EPHA10_ENST00000427468.2_Missense_Mutation_p.R143C|EPHA10_ENST00000319637.6_Missense_Mutation_p.R143C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	143						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)				CCGCCTAGGCGGGGACGCCCA	0.657													18	57					0	0	0	0	A	38227500	G	A	38227500	3	1	328	1	0	0	0	0	1	0	0	0	5204	1116	39	1	2697	1	EPHA10	1	38227500	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1474873	38227500	211023121	79	58293											
EPHA10	284656	broad.mit.edu	37	chr1	38227713	38227713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgcacacttggtacgtgcGgatgggacggtcgtgttcat	7	12	14	8	4	1	0	1	0	0	0	2	2	1	2	0	4	3	3	0	4	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:38227713G>A	ENST00000373048.4	-	3	213	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	EPHA10_ENST00000427468.2_Missense_Mutation_p.R72C|EPHA10_ENST00000319637.6_Missense_Mutation_p.R72C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	72						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.R72C(1)		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)				TGGTACGTGCGGATGGGACGG	0.612													22	57					0	0	0	0	A	38227713	G	A	38227713	3	1	328	1	0	0	0	0	1	0	0	0	5204	1116	39	1	2910	1	EPHA10	1	38227713	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	213	38227713	211022908	80	58294											
MACF1	23499	broad.mit.edu	37	chr1	39806365	39806365	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aattccaggctactccacttCcagaatgctgtggaaataga	13	10	8	10	0	0	2	0	0	0	2	3	3	3	3	3	2	2	2	3	2	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:39806365C>T	ENST00000564288.1	+	39	11184	c.10407C>T	c.(10405-10407)ttC>ttT	p.F3469F	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Silent_p.F3506F|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Silent_p.F1909F|MACF1_ENST00000372915.3_Silent_p.F3474F|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3474					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TACTCCACTTCCAGAATGCTG	0.418													18	5					0	0	0	0	T	39806365	C	T	39806365	2	4	328	1	0	0	0	0	0	0	0	1	9209	854	30	2		2	MACF1	1	39806365	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1578652	39806365	209444256	81	58295											
TRIT1	54802	broad.mit.edu	37	chr1	40313665	40313665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccaaatcctcacctattttCcgaaacattcttctgattat	11	15	3	12	1	3	1	1	1	2	0	5	2	5	1	4	0	1	0	4	0	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:40313665C>T	ENST00000316891.5	-	6	822	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Silent_p.R3R|TRIT1_ENST00000537223.1_Silent_p.R3R|TRIT1_ENST00000372818.1_Missense_Mutation_p.E270K|TRIT1_ENST00000441669.2_Missense_Mutation_p.E188K|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000545233.1_Missense_Mutation_p.E24K	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	270					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CACCTATTTTCCGAAACATTC	0.423													14	29					0	0	0	0	T	40313665	C	T	40313665	3	4	328	1	0	0	0	0	1	0	0	0	16655	864	30	2	619	2	TRIT1	1	40313665	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	507300	40313665	208936956	82	58296											
COL9A2	1298	broad.mit.edu	37	chr1	40777366	40777366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtcctgggggccccgatgGtccatctggtccagggtccc	3	8	16	14	1	1	0	0	0	1	0	5	1	5	0	6	6	0	0	6	6	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:40777366G>A	ENST00000372748.3	-	9	535	c.439C>T	c.(439-441)Cca>Tca	p.P147S		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	147	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGCCCCGATGGTCCATCTGGT	0.612													40	44					0	0	0	0	A	40777366	G	A	40777366	3	1	328	1	0	0	0	0	1	0	0	0	3738	1261	44	4	1726	4	COL9A2	1	40777366	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	463701	40777366	208473255	83	58297											
SCMH1	22955	broad.mit.edu	37	chr1	41540981	41540981	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggatgggaaattagggtCttgggtgtccggccccgctt	6	11	16	8	2	1	0	0	0	1	0	2	2	2	2	3	5	0	1	3	5	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:41540981C>T	ENST00000402904.2	-	9	1226	c.858G>A	c.(856-858)aaG>aaA	p.K286K	SCMH1_ENST00000361705.3_Silent_p.K239K|SCMH1_ENST00000372595.1_Silent_p.K225K|SCMH1_ENST00000397171.2_Silent_p.K225K|SCMH1_ENST00000372596.1_Silent_p.K225K|SCMH1_ENST00000397174.2_Silent_p.K266K|SCMH1_ENST00000361191.5_Silent_p.K225K|SCMH1_ENST00000456518.2_Silent_p.K128K|SCMH1_ENST00000326197.7_Silent_p.K286K|SCMH1_ENST00000337495.5_Silent_p.K296K|SCMH1_ENST00000372597.1_Silent_p.K239K	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	286					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AAATTAGGGTCTTGGGTGTCC	0.532													64	54					0	0	0	0	T	41540981	C	T	41540981	2	4	328	1	0	0	0	0	0	0	0	1	13995	912	32	2		2	SCMH1	1	41540981	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	763615	41540981	207709640	84	58298											
HIVEP3	59269	broad.mit.edu	37	chr1	42046085	42046085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatggttttaccagctcaaGtttttcatctgccttggaag	8	15	9	9	0	3	0	2	0	1	0	3	1	3	1	2	2	3	4	2	2	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:42046085G>A	ENST00000372584.1	-	3	5398	c.4384C>T	c.(4384-4386)Ctt>Ttt	p.L1462F	HIVEP3_ENST00000429157.2_Missense_Mutation_p.L1462F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L1462F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L1462F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1462					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)				ACCAGCTCAAGTTTTTCATCT	0.527													44	48					0	0	0	0	A	42046085	G	A	42046085	3	1	328	1	0	0	0	0	1	0	0	0	7238	1029	36	4	2860	4	HIVEP3	1	42046085	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	505104	42046085	207204536	85	58299											
TIE1	7075	broad.mit.edu	37	chr1	43774666	43774666	+	Missense_Mutation	SNP	C	C	T																															tttctccccagaccggatccCccagatcctcaacatggcct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:43774666C>T	ENST00000372476.3	+	8	1131	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	351					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACCGGATCCCCCAGATCCTC	0.602													7	39					0	0	0	0	T	43774666	C	T	43774666	3	4	328	1	0	0	0	0	1	0	0	0	15987	623	22	4	1082	4	TIE1	1	43774666	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1728581	43774666	205475955	86	58300	484	2									
TIE1	7075	broad.mit.edu	37	chr1	43774667	43774667	+	Silent	SNP	C	C	T																															ttctccccagaccggatcccCcagatcctcaacatggcctc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:43774667C>T	ENST00000372476.3	+	8	1132	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	351					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCGGATCCCCCAGATCCTCA	0.597													8	39					0	0	0	0	T	43774667	C	T	43774667	2	4	328	1	0	0	0	0	0	0	0	1	15987	610	22	4		4	TIE1	1	43774667	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	43774667	205475954	87	58301	484	2									
ELOVL1	64834	broad.mit.edu	37	chr1	43830433	43830433	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatcagctcaatgaacttGgagaagaggaagagccaggc	14	6	12	9	0	2	4	2	1	0	3	3	6	3	5	2	3	3	1	2	3	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:43830433G>A	ENST00000372458.3	-	5	468	c.351C>T	c.(349-351)tcC>tcT	p.S117S	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Silent_p.S90S	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	117					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAATGAACTTGGAGAAGAGGA	0.498													38	42					0	0	0	0	A	43830433	G	A	43830433	2	1	328	1	0	0	0	0	0	0	0	1	5111	1335	47	4		4	ELOVL1	1	43830433	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	55766	43830433	205420188	88	58302											
PTPRF	5792	broad.mit.edu	37	chr1	44069771	44069771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcaagccagacaccaCttacgacatcaaggtccgcg	11	6	9	15	3	2	1	2	0	0	1	3	2	3	1	4	2	2	0	4	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:44069771C>T	ENST00000359947.4	+	16	3288	c.2948C>T	c.(2947-2949)aCt>aTt	p.T983I	PTPRF_ENST00000422171.2_Missense_Mutation_p.T331I|PTPRF_ENST00000372413.3_Missense_Mutation_p.T974I|PTPRF_ENST00000372414.3_Missense_Mutation_p.T983I|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.T974I	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	983	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGACACCACTTACGACATC	0.587													17	66					0	0	0	0	T	44069771	C	T	44069771	3	4	328	1	0	0	0	0	1	0	0	0	12883	565	20	4	3002	4	PTPRF	1	44069771	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	239338	44069771	205180850	89	58303											
IPO13	9670	broad.mit.edu	37	chr1	44422566	44422566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttccagctggtggatgtgCttctgcacaaggcccagttc	7	11	11	12	0	1	0	0	0	1	0	3	1	2	1	2	3	3	4	2	3	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:44422566C>T	ENST00000372343.3	+	5	1851	c.1189C>T	c.(1189-1191)Ctt>Ttt	p.L397F	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	397					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGTGGATGTGCTTCTGCACAA	0.517													17	45					0	0	0	0	T	44422566	C	T	44422566	3	4	328	1	0	0	0	0	1	0	0	0	7847	797	28	4	1207	4	IPO13	1	44422566	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	352795	44422566	204828055	90	58304											
PLK3	1263	broad.mit.edu	37	chr1	45271237	45271237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacttttgtggcccgaaatCgtagtgcttgtacttacctc	7	15	9	10	2	0	1	0	1	0	0	2	2	0	1	2	1	3	3	2	1	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:45271237C>T	ENST00000372201.4	+	15	2067	c.1828C>T	c.(1828-1830)Cgt>Tgt	p.R610C	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	610	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGCCCGAAATCGTAGTGCTTG	0.602													39	132					0	0	0	0	T	45271237	C	T	45271237	3	4	328	1	0	0	0	0	1	0	0	0	12169	884	31	1	1886	1	PLK3	1	45271237	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	848671	45271237	203979384	91	58305											
AKR1A1	10327	broad.mit.edu	37	chr1	46032265	46032265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagctgttaagtatgccCttagcgtaggctaccgccac	10	9	10	12	2	0	0	0	0	0	0	0	0	0	0	3	1	5	6	3	1	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:46032265C>T	ENST00000372070.3	+	4	856	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	AKR1A1_ENST00000351829.4_Missense_Mutation_p.L37F|AKR1A1_ENST00000471651.1_3'UTR	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	37					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					TAAGTATGCCCTTAGCGTAGG	0.527													28	81					0	0	0	0	T	46032265	C	T	46032265	3	4	328	1	0	0	0	0	1	0	0	0	465	681	24	4	115	4	AKR1A1	1	46032265	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	761028	46032265	203218356	92	58306											
CYP4A22	284541	broad.mit.edu	37	chr1	47610115	47610115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaggcacttggattttctgGacatcctcctcttggccaaa	9	12	9	11	0	2	1	0	0	2	1	4	3	4	3	3	4	0	1	3	4	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:47610115G>A	ENST00000371891.3	+	7	908	c.877G>A	c.(877-879)Gac>Aac	p.D293N	CYP4A22_ENST00000371890.3_Missense_Mutation_p.G241E|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.D293N	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	293						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGATTTTCTGGACATCCTCCT	0.502													48	46					0	0	0	0	A	47610115	G	A	47610115	3	1	328	1	0	0	0	0	1	0	0	0	4216	1174	41	2	903	2	CYP4A22	1	47610115	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1577850	47610115	201640506	93	58307											
SLC1A7	6512	broad.mit.edu	37	chr1	53558360	53558360	+	Silent	SNP	G	G	A																															agcaccagcccgcacaccacGgtgactgagtagaagcccag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:53558360G>A	ENST00000371494.4	-	7	1024	c.897C>T	c.(895-897)acC>acT	p.T299T		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	299						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CGCACACCACGGTGACTGAGT	0.572													10	73					0	0	0	0	A	53558360	G	A	53558360	2	1	328	1	0	0	0	0	0	0	0	1	14525	1103	39	1		1	SLC1A7	1	53558360	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5948245	53558360	195692261	94	58308	485	2									
SLC1A7	6512	broad.mit.edu	37	chr1	53558361	53558361	+	Missense_Mutation	SNP	G	G	A																															gcaccagcccgcacaccacgGtgactgagtagaagcccagc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:53558361G>A	ENST00000371494.4	-	7	1023	c.896C>T	c.(895-897)aCc>aTc	p.T299I		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	299						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GCACACCACGGTGACTGAGTA	0.567													10	74					0	0	0	0	A	53558361	G	A	53558361	3	1	328	1	0	0	0	0	1	0	0	0	14525	1261	44	4	806	4	SLC1A7	1	53558361	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	53558361	195692260	95	58309	485	2									
LRP8	7804	broad.mit.edu	37	chr1	53724084	53724084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctggagatctgaggagcagGaaggcacaggtattcacagc	12	6	15	8	0	2	2	1	1	1	1	2	5	2	4	0	5	2	4	0	5	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:53724084G>A	ENST00000306052.6	-	14	2217	c.2116C>T	c.(2116-2118)Cct>Tct	p.P706S	LRP8_ENST00000465675.1_Missense_Mutation_p.P259S|LRP8_ENST00000371454.2_Missense_Mutation_p.P706S|LRP8_ENST00000347547.2_Missense_Mutation_p.P536S|LRP8_ENST00000354412.3_Missense_Mutation_p.P577S|LRP8_ENST00000460214.1_5'UTR	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	706					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TGAGGAGCAGGAAGGCACAGG	0.557													32	56					0	0	0	0	A	53724084	G	A	53724084	3	1	328	1	0	0	0	0	1	0	0	0	9027	1174	41	2	799	2	LRP8	1	53724084	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	165723	53724084	195526537	96	58310											
DHCR24	1718	broad.mit.edu	37	chr1	55317918	55317918	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccagctcagtgcctggcGgccttgcagatcttgtcgta	5	11	12	13	2	2	1	1	0	1	1	4	1	3	1	3	2	3	4	3	2	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:55317918G>A	ENST00000371269.3	-	9	1637	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	DHCR24_ENST00000535035.1_Silent_p.A472A|DHCR24_ENST00000537443.1_Silent_p.A297A	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	513					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						AGTGCCTGGCGGCCTTGCAGA	0.572													28	23					0	0	0	0	A	55317918	G	A	55317918	2	1	328	1	0	0	0	0	0	0	0	1	4513	1103	39	1		1	DHCR24	1	55317918	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1593834	55317918	193932703	97	58311											
BSND	7809	broad.mit.edu	37	chr1	55474243	55474243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtactatgggctgccagatgGagccggggacctcctcccgg	6	7	15	13	2	0	1	0	0	0	1	2	3	2	3	5	5	3	2	5	5	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:55474243G>A	ENST00000371265.4	+	4	1159	c.905G>A	c.(904-906)gGa>gAa	p.G302E		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	302						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CTGCCAGATGGAGCCGGGGAC	0.577													43	45					0	0	0	0	A	55474243	G	A	55474243	3	1	328	1	0	0	0	0	1	0	0	0	1539	1174	41	2	919	2	BSND	1	55474243	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	156325	55474243	193776378	98	58312											
USP24	23358	broad.mit.edu	37	chr1	55559721	55559721	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcggcctatggggccgaggGgatgactgaggtgaaatttc	8	10	16	7	2	0	3	0	3	0	0	2	5	0	4	2	6	0	0	2	6	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:55559721G>A	ENST00000294383.6	-	52	6242	c.6243C>T	c.(6241-6243)tcC>tcT	p.S2081S	USP24_ENST00000407756.1_Silent_p.S1921S	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2081					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GGGGCCGAGGGGATGACTGAG	0.438													8	18					0	0	0	0	A	55559721	G	A	55559721	2	1	328	1	0	0	0	0	0	0	0	1	17151	1219	43	4		4	USP24	1	55559721	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	85478	55559721	193690900	99	58313											
C8B	732	broad.mit.edu	37	chr1	57415395	57415395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgagtatgattcatactCttttaatatgaattcgtatt	12	19	5	5	1	3	3	1	3	2	0	4	3	3	3	0	0	1	2	0	0	6	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:57415395C>G	ENST00000543257.1	-	7	1107	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	C8B_ENST00000371237.4_Missense_Mutation_p.E233Q|C8B_ENST00000535057.1_Missense_Mutation_p.E171Q	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	233	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GATTCATACTCTTTTAATATG	0.328													10	13					0	0	0	0	G	57415395	C	G	57415395	3	3	328	1	0	0	0	0	1	0	0	0	2440	922	32	2	1106	2	C8B	1	57415395	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1855674	57415395	191835226	100	58314											
CYP2J2	1573	broad.mit.edu	37	chr1	60375617	60375617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggaatttcattatccatgGaaagacattgtagagctaat	15	12	8	6	0	1	2	1	0	0	2	2	4	2	4	1	2	1	2	1	2	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:60375617G>A	ENST00000371204.3	-	5	743	c.700C>T	c.(700-702)Cca>Tca	p.P234S	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	234					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					ATTATCCATGGAAAGACATTG	0.353													14	19					0	0	0	0	A	60375617	G	A	60375617	3	1	328	1	0	0	0	0	1	0	0	0	4204	1174	41	2	828	2	CYP2J2	1	60375617	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2960222	60375617	188875004	101	58315											
ROR1	4919	broad.mit.edu	37	chr1	64608210	64608210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacactttcaccgcccttCgtttcccagagctgaatgga	9	10	7	15	2	1	2	1	1	0	1	3	3	2	3	3	1	1	2	3	1	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:64608210C>T	ENST00000371079.1	+	7	1426	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	ROR1_ENST00000371080.1_Missense_Mutation_p.R351C|ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	351	Kringle.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.R351C(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CACCGCCCTTCGTTTCCCAGA	0.547													37	27					0	0	0	0	T	64608210	C	T	64608210	3	4	328	1	0	0	0	0	1	0	0	0	13611	884	31	1	1077	1	ROR1	1	64608210	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4232593	64608210	184642411	102	58316											
LEPR	3953	broad.mit.edu	37	chr1	66036244	66036244	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgccaccaaattcaacCtatgactacttccttttgcc	10	13	4	14	0	1	1	1	1	0	0	2	1	2	1	5	0	5	1	5	0	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:66036244C>T	ENST00000349533.6	+	4	314	c.129C>T	c.(127-129)acC>acT	p.T43T	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Silent_p.T43T|LEPR_ENST00000344610.8_Silent_p.T43T|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371058.1_Silent_p.T43T|LEPR_ENST00000371060.3_Silent_p.T43T	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	43					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAAATTCAACCTATGACTACT	0.353													19	66					0	0	0	0	T	66036244	C	T	66036244	2	4	328	1	0	0	0	0	0	0	0	1	8781	668	24	4		4	LEPR	1	66036244	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1428034	66036244	183214377	103	58317											
SGIP1	84251	broad.mit.edu	37	chr1	67147816	67147816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccccaggtcccacaggccCcccagggcctcctgggcctc	4	4	10	23	0	0	0	0	0	0	0	3	0	2	0	10	4	0	0	10	4	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:67147816C>T	ENST00000371037.4	+	15	1156	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P364L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	360	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCCACAGGCCCCCCAGGGCCT	0.572													44	129					0	0	0	0	T	67147816	C	T	67147816	3	4	328	1	0	0	0	0	1	0	0	0	14293	623	22	4	1137	4	SGIP1	1	67147816	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1111572	67147816	182102805	104	58318											
LRRIQ3	127255	broad.mit.edu	37	chr1	74492516	74492516	+	Missense_Mutation	SNP	G	G	A																															ttcattttatcagtccattgGgaactttaaagtctaaattt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:74492516G>A	ENST00000354431.4	-	8	2047	c.1856C>T	c.(1855-1857)cCc>cTc	p.P619L	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P619L	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	619								p.P619H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAGTCCATTGGGAACTTTAAA	0.289													7	22					0	0	0	0	A	74492516	G	A	74492516	3	1	328	1	0	0	0	0	1	0	0	0	9094	1232	43	4	22	4	LRRIQ3	1	74492516	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7344700	74492516	174758105	105	58319	486	2									
LRRIQ3	127255	broad.mit.edu	37	chr1	74492517	74492517	+	Missense_Mutation	SNP	G	G	A																															tcattttatcagtccattggGaactttaaagtctaaatttg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:74492517G>A	ENST00000354431.4	-	8	2046	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P619S	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	619										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGTCCATTGGGAACTTTAAAG	0.289													7	22					0	0	0	0	A	74492517	G	A	74492517	3	1	328	1	0	0	0	0	1	0	0	0	9094	1174	41	2	23	2	LRRIQ3	1	74492517	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	74492517	174758104	106	58320	486	2									
LRRIQ3	127255	broad.mit.edu	37	chr1	74575193	74575193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccattttgcttcatatcctCtaataattttttcctgctgt	7	21	3	10	0	2	0	1	0	1	0	5	0	5	0	3	0	2	2	3	0	3	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:74575193C>T	ENST00000354431.4	-	5	943	c.752G>A	c.(751-753)aGa>aAa	p.R251K	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R251K|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.R143K|LRRIQ3_ENST00000468759.1_5'UTR	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	251										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCATATCCTCTAATAATTTT	0.318													16	29					0	0	0	0	T	74575193	C	T	74575193	3	4	328	1	0	0	0	0	1	0	0	0	9094	913	32	2	1138	2	LRRIQ3	1	74575193	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	82676	74575193	174675428	107	58321											
C1orf173	127254	broad.mit.edu	37	chr1	75038132	75038132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctttaaaagcatcttcatCcttgagtgcatttgcccttg	8	17	6	10	0	3	1	1	1	2	0	4	1	4	1	2	0	3	2	2	0	2	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:75038132C>T	ENST00000326665.5	-	14	3480	c.3262G>A	c.(3262-3264)Gat>Aat	p.D1088N	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1088	Glu-rich.									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						GCATCTTCATCCTTGAGTGCA	0.438													50	64					0	0	0	0	T	75038132	C	T	75038132	3	4	328	1	0	0	0	0	1	0	0	0	2033	855	30	2	1334	2	C1orf173	1	75038132	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	462939	75038132	174212489	108	58322											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76878004	76878004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttacaacatgttgaaaaaGacagttggtatctatccgaa	15	12	8	6	1	1	2	0	1	1	1	2	3	2	2	1	1	2	4	1	1	7	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:76878004G>A	ENST00000328299.3	+	3	673	c.525G>A	c.(523-525)aaG>aaA	p.K175K	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	175					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGTTGAAAAAGACAGTTGGTA	0.398													16	60					0	0	0	0	A	76878004	G	A	76878004	2	1	328	1	0	0	0	0	0	0	0	1	15315	933	33	2		2	ST6GALNAC3	1	76878004	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1839872	76878004	172372617	109	58323											
USP33	23032	broad.mit.edu	37	chr1	78191355	78191355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccacaaattgcctgatttagGagggcttgccgataaacgtg	11	10	11	9	2	0	1	0	1	0	0	0	3	0	2	3	2	3	1	3	2	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:78191355G>A	ENST00000370793.1	-	12	1667	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	USP33_ENST00000370794.3_Missense_Mutation_p.P410S|USP33_ENST00000370792.3_Missense_Mutation_p.P441S|USP33_ENST00000357428.1_Missense_Mutation_p.P441S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	441					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CCTGATTTAGGAGGGCTTGCC	0.403													26	29					0	0	0	0	A	78191355	G	A	78191355	3	1	328	1	0	0	0	0	1	0	0	0	17160	1174	41	2	1575	2	USP33	1	78191355	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1313351	78191355	171059266	110	58324											
COL24A1	255631	broad.mit.edu	37	chr1	86590599	86590599	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtatttagatcctcataatAataataatcataaagctcag	17	14	4	6	0	3	1	3	0	0	1	4	1	4	1	1	0	1	2	1	0	8	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:86590599A>C	ENST00000370571.2	-	3	1786	c.1420T>G	c.(1420-1422)Tat>Gat	p.Y474D	COL24A1_ENST00000436319.1_Missense_Mutation_p.Y474D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	474	Poly-Tyr.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCTCATAATAATAATAATCA	0.343													22	20					0	0	0	0	C	86590599	A	C	86590599	3	2	328	1	0	0	0	0	1	0	0	0	3713	362	13	5	3956	5	COL24A1	1	86590599	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	8399244	86590599	162660022	111	58325											
GBP4	115361	broad.mit.edu	37	chr1	89657044	89657044	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcataaggaaatgcctttcCagattttcttctggcacttc	9	15	7	10	0	2	1	0	0	2	1	4	2	3	2	2	2	2	2	2	2	2	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:89657044C>T	ENST00000355754.6	-	6	913	c.816G>A	c.(814-816)ctG>ctA	p.L272L		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	272						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AATGCCTTTCCAGATTTTCTT	0.418													18	53					0	0	0	0	T	89657044	C	T	89657044	2	4	328	1	0	0	0	0	0	0	0	1	6325	581	21	4		4	GBP4	1	89657044	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3066445	89657044	159593577	112	58326											
GBP5	115362	broad.mit.edu	37	chr1	89734500	89734500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcacacaccatatccaaattCccttggtgtgagactgcacc	11	9	7	14	0	0	1	0	1	0	1	2	2	2	1	4	1	1	2	4	1	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:89734500C>T	ENST00000343435.5	-	4	766	c.230G>A	c.(229-231)gGa>gAa	p.G77E	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.G77E	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	77						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TATCCAAATTCCCTTGGTGTG	0.488													14	44					0	0	0	0	T	89734500	C	T	89734500	3	4	328	1	0	0	0	0	1	0	0	0	6326	855	30	2	1566	2	GBP5	1	89734500	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	77456	89734500	159516121	113	58327											
GBP6	163351	broad.mit.edu	37	chr1	89845978	89845978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttcaaacatccaattttcCcagggagtgcatcaggcgtt	11	11	9	10	1	2	0	2	0	0	0	4	1	4	1	2	2	2	3	2	2	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:89845978C>T	ENST00000370456.4	+	6	752	c.659C>T	c.(658-660)cCc>cTc	p.P220L	GBP6_ENST00000535065.1_Missense_Mutation_p.P90L	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	220							GTP binding|GTPase activity	p.P220L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TCCAATTTTCCCAGGGAGTGC	0.403													15	34					0	0	0	0	T	89845978	C	T	89845978	3	4	328	1	0	0	0	0	1	0	0	0	6327	623	22	4	677	4	GBP6	1	89845978	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	111478	89845978	159404643	114	58328											
HFM1	164045	broad.mit.edu	37	chr1	91731618	91731618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgctctttgactcttgaagGggtagcttacttcccctggt	5	16	10	10	0	2	2	0	2	2	0	3	2	3	2	2	3	3	3	2	3	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:91731618G>A	ENST00000370425.3	-	36	4028	c.3930C>T	c.(3928-3930)ccC>ccT	p.P1310P	HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_Intron|HFM1_ENST00000370424.3_Silent_p.P989P	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1310							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ACTCTTGAAGGGGTAGCTTAC	0.363													14	45					0	0	0	0	A	91731618	G	A	91731618	2	1	328	1	0	0	0	0	0	0	0	1	7133	1219	43	4		4	HFM1	1	91731618	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1885640	91731618	157519003	115	58329											
HFM1	164045	broad.mit.edu	37	chr1	91850783	91850783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaggaacctaaaccattttCtgttacctctgaaaaaaaaa	18	10	4	9	0	2	1	0	1	2	0	2	2	2	2	3	1	3	1	3	1	9	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:91850783C>T	ENST00000370425.3	-	6	861	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	255							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAACCATTTTCTGTTACCTCT	0.264													17	52					0	0	0	0	T	91850783	C	T	91850783	3	4	328	1	0	0	0	0	1	0	0	0	7133	922	32	2	3680	2	HFM1	1	91850783	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	119165	91850783	157399838	116	58330											
BRDT	676	broad.mit.edu	37	chr1	92446708	92446708	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaatatgtttcggcatgtCtaagaaagagaccattaaaa	19	10	7	5	1	1	2	0	0	1	2	2	3	1	2	1	1	0	2	1	1	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:92446708C>T	ENST00000370389.2	+	10	2428	c.1504C>T	c.(1504-1506)Cta>Tta	p.L502L	BRDT_ENST00000394530.3_Silent_p.L529L|BRDT_ENST00000399546.2_Silent_p.L575L|BRDT_ENST00000362005.3_Silent_p.L575L|BRDT_ENST00000402388.1_Silent_p.L575L	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTCGGCATGTCTAAGAAAGAG	0.348													29	31					0	0	0	0	T	92446708	C	T	92446708	2	4	328	1	0	0	0	0	0	0	0	1	1516	912	32	2		2	BRDT	1	92446708	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	595925	92446708	156803913	117	58331											
C1orf146	388649	broad.mit.edu	37	chr1	92707815	92707815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatcgaagccacaaagttcGatattcagattcagtggaaa	17	9	8	7	2	2	1	2	0	0	1	4	4	2	2	1	1	1	1	1	1	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:92707815G>A	ENST00000370375.3	+	3	261	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	C1orf146_ENST00000370373.2_5'UTR	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	38										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		CACAAAGTTCGATATTCAGAT	0.299													16	27					0	0	0	0	A	92707815	G	A	92707815	3	1	328	1	0	0	0	0	1	0	0	0	2022	1058	37	1	119	1	C1orf146	1	92707815	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	261107	92707815	156542806	118	58332											
ARHGAP29	9411	broad.mit.edu	37	chr1	94654438	94654438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctagattcgctgctccCtccagtgctctcagaatcac	9	11	7	14	1	3	3	2	0	2	3	7	3	5	3	2	0	2	3	2	0	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:94654438C>T	ENST00000260526.6	-	15	1818	c.1636G>A	c.(1636-1638)Ggg>Agg	p.G546R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	546					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCGCTGCTCCCTCCAGTGCTC	0.368													19	84					0	0	0	0	T	94654438	C	T	94654438	3	4	328	1	0	0	0	0	1	0	0	0	880	681	24	4	2185	4	ARHGAP29	1	94654438	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1946623	94654438	154596183	119	58333											
LPPR4	9890	broad.mit.edu	37	chr1	99771258	99771258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagggcttgtatgctgtgggGaatttcctgcccagtgatga	7	13	14	7	0	0	2	0	2	0	0	1	3	1	3	2	3	2	3	2	3	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:99771258G>A	ENST00000370185.3	+	7	1481	c.984G>A	c.(982-984)ggG>ggA	p.G328G	LPPR4_ENST00000370184.1_Silent_p.G170G|LPPR4_ENST00000457765.1_Silent_p.G270G	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		328							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATGCTGTGGGGAATTTCCTGC	0.443													32	38					0	0	0	0	A	99771258	G	A	99771258	2	1	328	1	0	0	0	0	0	0	0	1	8991	1161	41	2		2	LPPR4	1	99771258	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5116820	99771258	149479363	120	58334											
VCAM1	7412	broad.mit.edu	37	chr1	101188698	101188698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagatagacttactgaaaGgagatcatctcatgaagagt	15	10	11	5	0	2	6	2	2	1	4	3	8	2	6	0	2	1	0	0	2	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:101188698G>A	ENST00000294728.2	+	3	564	c.463G>A	c.(463-465)Gga>Aga	p.G155R	VCAM1_ENST00000370119.4_Missense_Mutation_p.G93R|VCAM1_ENST00000347652.2_Missense_Mutation_p.G155R|VCAM1_ENST00000370115.1_Missense_Mutation_p.G155R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	155	Ig-like C2-type 2.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTTACTGAAAGGAGATCATCT	0.468													12	29					0	0	0	0	A	101188698	G	A	101188698	3	1	328	1	0	0	0	0	1	0	0	0	17233	1001	35	4	473	4	VCAM1	1	101188698	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1417440	101188698	148061923	121	58335											
VCAM1	7412	broad.mit.edu	37	chr1	101194832	101194832	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtgaggggaccaattcCacgctgaccctgagccctgt	9	7	13	12	1	0	3	0	3	0	0	1	5	1	5	4	3	1	1	4	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:101194832C>T	ENST00000294728.2	+	5	1199	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	VCAM1_ENST00000370119.4_Silent_p.S304S|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	366	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGACCAATTCCACGCTGACCC	0.517													50	60					0	0	0	0	T	101194832	C	T	101194832	2	4	328	1	0	0	0	0	0	0	0	1	17233	581	21	4		4	VCAM1	1	101194832	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6134	101194832	148055789	122	58336											
OLFM3	118427	broad.mit.edu	37	chr1	102270264	102270264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggcttcgttgggcaaGcactctccccatatcaaagc	9	9	8	15	1	2	0	1	0	1	0	5	0	3	0	3	2	2	4	3	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:102270264G>A	ENST00000370103.4	-	6	1120	c.907C>T	c.(907-909)Ctt>Ttt	p.L303F	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.L323F|OLFM3_ENST00000536598.1_3'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	323	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CGTTGGGCAAGCACTCTCCCC	0.438													19	33					0	0	0	0	A	102270264	G	A	102270264	3	1	328	1	0	0	0	0	1	0	0	0	10925	971	34	4	473	4	OLFM3	1	102270264	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1075432	102270264	146980357	123	58337											
COL11A1	1301	broad.mit.edu	37	chr1	103427755	103427755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctccaggaagacctctttCccctgggaaaccacgtaatc	11	8	8	14	1	1	1	0	0	1	1	4	3	3	3	5	2	2	2	5	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103427755C>T	ENST00000358392.2	-	40	3444	c.3127G>A	c.(3127-3129)Gaa>Aaa	p.E1043K	COL11A1_ENST00000353414.4_Missense_Mutation_p.E992K|COL11A1_ENST00000512756.1_Missense_Mutation_p.E915K|COL11A1_ENST00000370096.3_Missense_Mutation_p.E1031K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1031	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGACCTCTTTCCCCTGGGAAA	0.383													35	32					0	0	0	0	T	103427755	C	T	103427755	3	4	328	1	0	0	0	0	1	0	0	0	3697	864	30	2	2441	2	COL11A1	1	103427755	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1157491	103427755	145822866	124	58338											
COL11A1	1301	broad.mit.edu	37	chr1	103453203	103453203	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaaccttttctcctgcttGacctgaaggacctgggtctc	7	12	8	14	0	2	2	0	2	2	0	4	3	2	3	5	2	2	1	5	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103453203G>A	ENST00000358392.2	-	30	2841	c.2524C>T	c.(2524-2526)Caa>Taa	p.Q842*	COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q791*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q714*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Q830*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	830	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.Q842*(1)|p.Q830*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTCCTGCTTGACCTGAAGGA	0.463													15	46					0	0	0	0	A	103453203	G	A	103453203	4	1	328	1	0	0	0	0	0	1	0	0	3697	1299	45	2	3084	2	COL11A1	1	103453203	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	25448	103453203	145797418	125	58339											
COL11A1	1301	broad.mit.edu	37	chr1	103481224	103481224	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taacataaaaaagaacatacCggtaacatcaacatagtacc	21	7	4	9	1	1	1	1	0	0	1	1	1	1	1	2	1	6	2	2	1	10	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103481224C>T	ENST00000358392.2	-	12	1841	c.1524_splice	c.e12+1	p.P508_splice	COL11A1_ENST00000353414.4_Splice_Site_p.P457_splice|COL11A1_ENST00000512756.1_Splice_Site_p.P380_splice|COL11A1_ENST00000370096.3_Splice_Site_p.P496_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	496	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AAGAACATACCGGTAACATCA	0.388													3	10					0	0	0	0	T	103481224	C	T	103481224	5	4	328	1	0	0	0	0	0	0	1	0	3697	666	23	1	4156	1	COL11A1	1	103481224	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	28021	103481224	145769397	126	58340											
COL11A1	1301	broad.mit.edu	37	chr1	103483419	103483419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccagtggggccttgtagaCctggaggacccataataccc	9	8	12	12	0	0	1	0	0	0	1	1	3	1	3	5	4	1	1	5	4	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103483419C>T	ENST00000358392.2	-	11	1723	c.1406G>A	c.(1405-1407)gGt>gAt	p.G469D	COL11A1_ENST00000353414.4_Missense_Mutation_p.G418D|COL11A1_ENST00000512756.1_Missense_Mutation_p.G341D|COL11A1_ENST00000370096.3_Missense_Mutation_p.G457D	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	457	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCTTGTAGACCTGGAGGACC	0.403													19	71					0	0	0	0	T	103483419	C	T	103483419	3	4	328	1	0	0	0	0	1	0	0	0	3697	507	18	4	4278	4	COL11A1	1	103483419	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2195	103483419	145767202	127	58341											
COL11A1	1301	broad.mit.edu	37	chr1	103488354	103488354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggaccaaattcttcattagGggggcttgttggtttatctt	7	17	11	6	0	3	0	1	0	2	0	3	1	3	1	1	5	0	3	1	5	3	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103488354G>A	ENST00000358392.2	-	8	1542	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	COL11A1_ENST00000353414.4_Missense_Mutation_p.P358S|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.P397S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	397	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTTCATTAGGGGGGCTTGTT	0.363													20	47					0	0	0	0	A	103488354	G	A	103488354	3	1	328	1	0	0	0	0	1	0	0	0	3697	1232	43	4	4471	4	COL11A1	1	103488354	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4935	103488354	145762267	128	58342											
COL11A1	1301	broad.mit.edu	37	chr1	103488399	103488399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctttatattcataaaaatCatattcgcctaaatctccat	14	17	1	9	1	4	0	2	0	2	0	6	0	4	0	2	0	0	0	2	0	8	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103488399C>T	ENST00000358392.2	-	8	1497	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	COL11A1_ENST00000353414.4_Missense_Mutation_p.D343N|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.D382N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	382	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCATAAAAATCATATTCGCCT	0.363													28	17					0	0	0	0	T	103488399	C	T	103488399	3	4	328	1	0	0	0	0	1	0	0	0	3697	826	29	2	4516	2	COL11A1	1	103488399	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	45	103488399	145762222	129	58343											
COL11A1	1301	broad.mit.edu	37	chr1	103540328	103540328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacgctgattgctaccCgatgccacctaaaaaagaca	13	8	6	14	2	1	2	0	1	1	1	2	3	1	2	4	0	3	2	4	0	4	3	rs142753283		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103540328C>T	ENST00000358392.2	-	4	814	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	COL11A1_ENST00000353414.4_Missense_Mutation_p.R166Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.R166Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.R166Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	166	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATTGCTACCCGATGCCACCT	0.353													23	25					0	0	0	0	T	103540328	C	T	103540328	3	4	328	1	0	0	0	0	1	0	0	0	3697	652	23	1	5336	1	COL11A1	1	103540328	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	51929	103540328	145710293	130	58344											
AMY2B	280	broad.mit.edu	37	chr1	104120437	104120437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttttgggagaggaaacaGaggattcattgttttcaaca	12	12	12	5	0	2	2	2	0	0	2	2	5	2	4	0	4	2	2	0	4	2	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:104120437G>A	ENST00000361355.4	+	11	1932	c.1316G>A	c.(1315-1317)aGa>aAa	p.R439K	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	439					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AGAGGAAACAGAGGATTCATT	0.358													82	99					0	0	0	0	A	104120437	G	A	104120437	3	1	328	1	0	0	0	0	1	0	0	0	595	942	33	2	1350	2	AMY2B	1	104120437	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	580109	104120437	145130184	131	58345											
STXBP3	6814	broad.mit.edu	37	chr1	109299377	109299377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagctctttatttcatcactCcgacatcaaaggtgagtatt	12	14	6	9	1	4	1	3	1	1	0	5	2	5	1	1	1	1	2	1	1	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:109299377C>T	ENST00000370008.3	+	4	297	c.247C>T	c.(247-249)Ccg>Tcg	p.P83S		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	83	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TTTCATCACTCCGACATCAAA	0.303													6	19					0	0	0	0	T	109299377	C	T	109299377	3	4	328	1	0	0	0	0	1	0	0	0	15444	855	30	2	261	2	STXBP3	1	109299377	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5178940	109299377	139951244	132	58346											
KIAA1324	57535	broad.mit.edu	37	chr1	109735408	109735408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agattcaggaacctgccactCctgccccactaacacaattc	12	8	5	16	0	1	1	1	0	0	1	3	2	2	2	5	1	4	0	5	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:109735408C>T	ENST00000369939.3	+	14	2042	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.S533F	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	620					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ACCTGCCACTCCTGCCCCACT	0.552													32	90					0	0	0	0	T	109735408	C	T	109735408	3	4	328	1	0	0	0	0	1	0	0	0	8274	855	30	2	1913	2	KIAA1324	1	109735408	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	436031	109735408	139515213	133	58347											
CELSR2	1952	broad.mit.edu	37	chr1	109801499	109801499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcgcttcgactcctcCgcgcccttcatcgcctcctc	2	11	8	20	5	1	0	1	0	0	0	7	1	4	0	5	0	2	2	5	0	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:109801499C>T	ENST00000271332.3	+	2	3817	c.3756C>T	c.(3754-3756)tcC>tcT	p.S1252S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1252	EGF-like 1; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCGACTCCTCCGCGCCCTTCA	0.692													8	7					0	0	0	0	T	109801499	C	T	109801499	2	4	328	1	0	0	0	0	0	0	0	1	3251	639	23	1		1	CELSR2	1	109801499	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	66091	109801499	139449122	134	58348											
RBM15	64783	broad.mit.edu	37	chr1	110883456	110883456	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctggcacgagaatttgatCgatttggcaccatacgcacc	10	9	9	13	3	0	2	0	1	0	1	1	4	0	2	3	2	1	3	3	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:110883456C>T	ENST00000369784.3	+	1	2329	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*	RBM15_ENST00000602849.1_Nonsense_Mutation_p.R477*|RBM15_ENST00000487146.2_Nonsense_Mutation_p.R477*	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	477	RRM 3.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGAATTTGATCGATTTGGCAC	0.517			T	MKL1	acute megakaryocytic leukemia								45	43					0	0	0	0	T	110883456	C	T	110883456	4	4	328	1	0	0	0	0	0	1	0	0	13198	876	31	1	1431	1	RBM15	1	110883456	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1081957	110883456	138367165	135	58349											
CHIA	27159	broad.mit.edu	37	chr1	111854949	111854949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctgggaggcagaacaacGagatcaccaccatcgaatgg	13	6	12	10	2	1	2	1	0	0	2	2	5	1	3	2	3	3	2	2	3	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:111854949G>A	ENST00000369740.1	+	4	296	c.193G>A	c.(193-195)Gag>Aag	p.E65K	CHIA_ENST00000451398.2_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.E65K|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000353665.6_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	65					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GCAGAACAACGAGATCACCAC	0.522													28	45					0	0	0	0	A	111854949	G	A	111854949	3	1	328	1	0	0	0	0	1	0	0	0	3371	1059	37	1	203	1	CHIA	1	111854949	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	971493	111854949	137395672	136	58350											
ADORA3	140	broad.mit.edu	37	chr1	112033366	112033366	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatgatagaatgcacccaggGagcccaggaattctgaatct	14	8	10	9	0	2	3	0	2	2	1	2	5	2	5	2	2	2	1	2	2	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:112033366G>A	ENST00000369716.4	-	2	502	c.369C>T	c.(367-369)ctC>ctT	p.L123L	ADORA3_ENST00000369717.4_Silent_p.L42L	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	TGCACCCAGGGAGCCCAGGAA	0.448													23	21					0	0	0	0	A	112033366	G	A	112033366	2	1	328	1	0	0	0	0	0	0	0	1	329	1161	41	2		2	ADORA3	1	112033366	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	178417	112033366	137217255	137	58351											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112999861	112999861	+	Missense_Mutation	SNP	C	C	T																															gaggaaaccctccacccatcCcacccaagaaacctggcctc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:112999861C>T	ENST00000271277.6	+	6	1972	c.1747C>T	c.(1747-1749)Cca>Tca	p.P583S	CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	583						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCACCCATCCCACCCAAGAA	0.567													43	32					0	0	0	0	T	112999861	C	T	112999861	3	4	328	1	0	0	0	0	1	0	0	0	4078	623	22	4	1761	4	CTTNBP2NL	1	112999861	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	966495	112999861	136250760	138	58352	487	2									
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112999862	112999862	+	Missense_Mutation	SNP	C	C	T																															aggaaaccctccacccatccCacccaagaaacctggcctca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:112999862C>T	ENST00000271277.6	+	6	1973	c.1748C>T	c.(1747-1749)cCa>cTa	p.P583L	CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	583						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACCCATCCCACCCAAGAAA	0.572													43	31					0	0	0	0	T	112999862	C	T	112999862	3	4	328	1	0	0	0	0	1	0	0	0	4078	594	21	4	1762	4	CTTNBP2NL	1	112999862	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	112999862	136250759	139	58353	487	2									
ST7L	54879	broad.mit.edu	37	chr1	113143419	113143419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaaatgtaatacctcCtatattctgctcctctgaaa	15	12	4	10	0	2	1	0	1	2	0	4	1	4	1	3	0	3	3	3	0	8	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:113143419C>T	ENST00000358039.4	-	4	807	c.503G>A	c.(502-504)aGg>aAg	p.R168K	ST7L_ENST00000360743.4_Missense_Mutation_p.R168K|ST7L_ENST00000369666.1_Missense_Mutation_p.R151K|ST7L_ENST00000490067.1_Missense_Mutation_p.R151K|ST7L_ENST00000544629.1_Missense_Mutation_p.R168K|ST7L_ENST00000369669.1_Intron|ST7L_ENST00000369668.2_Missense_Mutation_p.R168K|ST7L_ENST00000343210.7_Missense_Mutation_p.R168K|ST7L_ENST00000538187.1_Missense_Mutation_p.R112K|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000543570.1_Missense_Mutation_p.R151K	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	168					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAATACCTCCTATATTCTGC	0.328													5	11					0	0	0	0	T	113143419	C	T	113143419	3	4	328	1	0	0	0	0	1	0	0	0	15320	681	24	4	1311	4	ST7L	1	113143419	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	143557	113143419	136107202	140	58354											
LRIG2	9860	broad.mit.edu	37	chr1	113666513	113666513	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaacattgcagcggccCgtgtggaacataaacagaga	15	6	11	9	2	1	2	1	0	0	2	1	4	1	3	1	2	5	1	1	2	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:113666513C>T	ENST00000361127.4	+	18	3186	c.2988C>T	c.(2986-2988)ccC>ccT	p.P996P	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	996						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGCAGCGGCCCGTGTGGAACA	0.433													11	13					0	0	0	0	T	113666513	C	T	113666513	2	4	328	1	0	0	0	0	0	0	0	1	9009	639	23	1		1	LRIG2	1	113666513	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	523094	113666513	135584108	141	58355											
SYCP1	6847	broad.mit.edu	37	chr1	115430287	115430287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattgaaaatacttaccatgGagcttcaaaagaaatcaagt	19	10	6	6	0	2	2	2	1	0	1	2	3	2	3	1	1	3	1	1	1	9	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:115430287G>A	ENST00000369522.3	+	15	1471	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E411K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	411					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		ACTTACCATGGAGCTTCAAAA	0.249													7	37					0	0	0	0	A	115430287	G	A	115430287	3	1	328	1	0	0	0	0	1	0	0	0	15522	1175	41	2	1285	2	SYCP1	1	115430287	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1763774	115430287	133820334	142	58356											
SYCP1	6847	broad.mit.edu	37	chr1	115455673	115455673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcttaagaatactgaattaActtcacactgcaacaagctt	15	11	6	9	0	1	2	1	1	0	1	1	2	1	2	0	1	5	3	0	1	7	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:115455673A>G	ENST00000369522.3	+	19	1789	c.1549A>G	c.(1549-1551)Act>Gct	p.T517A	SYCP1_ENST00000369518.1_Missense_Mutation_p.T517A	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	517				LTSHCNKLSLENK -> YFTLQQASPPPN (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		TACTGAATTAACTTCACACTG	0.284													30	35					0	0	0	0	G	115455673	A	G	115455673	3	3	328	1	0	0	0	0	1	0	0	0	15522	43	2	5	1619	5	SYCP1	1	115455673	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	25386	115455673	133794948	143	58357											
NHLH2	4808	broad.mit.edu	37	chr1	116380887	116380887	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaccggctccaggtccGacacgctgccgagcaccttg	6	6	10	19	4	0	0	0	0	0	0	3	2	3	0	7	2	2	3	7	2	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:116380887G>T	ENST00000369506.1	-	1	5651	c.107C>A	c.(106-108)tCg>tAg	p.S36*	NHLH2_ENST00000320238.3_Nonsense_Mutation_p.S36*			Q02577	HEN2_HUMAN	nescient helix loop helix 2	36					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCCAGGTCCGACACGCTGCC	0.716													5	7					0.184627	0.184683	1	0	T	116380887	G	T	116380887	4	4	328	1	0	0	0	0	0	1	0	0	10474	1059	37	3	304	3	NHLH2	1	116380887	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	925214	116380887	132869734	144	58358											
SLC22A15	55356	broad.mit.edu	37	chr1	116562275	116562275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagtggtgtatttgttGgagttatctcttttggtcag	5	20	11	5	0	4	0	2	0	2	0	5	1	4	1	0	3	0	3	0	3	2	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:116562275G>A	ENST00000369503.4	+	3	503	c.373G>A	c.(373-375)Gga>Aga	p.G125R	SLC22A15_ENST00000369502.1_Missense_Mutation_p.G125R	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	125					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGTATTTGTTGGAGTTATCTC	0.383													10	10					0	0	0	0	A	116562275	G	A	116562275	3	1	328	1	0	0	0	0	1	0	0	0	14534	1349	47	4	383	4	SLC22A15	1	116562275	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	181388	116562275	132688346	145	58359											
IGSF3	3321	broad.mit.edu	37	chr1	117158813	117158813	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatctgtgatgtgcaataGggttgagttcccctggactc	9	12	12	8	0	1	3	0	2	1	1	3	4	2	4	2	2	1	3	2	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:117158813G>A	ENST00000369486.3	-	3	1075	c.310C>T	c.(310-312)Cta>Tta	p.L104L	IGSF3_ENST00000369483.1_Silent_p.L104L|IGSF3_ENST00000318837.6_Silent_p.L104L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	104	Ig-like C2-type 1.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATGTGCAATAGGGTTGAGTTC	0.527													10	36					0	0	0	0	A	117158813	G	A	117158813	2	1	328	1	0	0	0	0	0	0	0	1	7654	991	35	4		4	IGSF3	1	117158813	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	596538	117158813	132091808	146	58360											
HSD3B1	3283	broad.mit.edu	37	chr1	120056552	120056552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgggcccaactcctacaagGaaatcatccagaatggccat	13	6	8	14	1	1	1	1	0	0	1	3	2	3	2	5	3	2	0	5	3	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:120056552G>A	ENST00000235547.6	+	4	551	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	HSD3B1_ENST00000528909.1_Missense_Mutation_p.E136K|HSD3B1_ENST00000369413.3_Missense_Mutation_p.E136K	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	136					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CTCCTACAAGGAAATCATCCA	0.537													40	133					0	0	0	0	A	120056552	G	A	120056552	3	1	328	1	0	0	0	0	1	0	0	0	7440	1175	41	2	416	2	HSD3B1	1	120056552	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2897739	120056552	129194069	147	58361											
HMGCS2	3158	broad.mit.edu	37	chr1	120306990	120306990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccagcctgcccacagagtCccatgggagctgtatgcgct	7	9	11	14	1	0	1	0	0	0	1	2	2	2	2	4	1	4	3	4	1	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:120306990C>T	ENST00000369406.3	-	2	413	c.364G>A	c.(364-366)Gac>Aac	p.D122N	HMGCS2_ENST00000544913.2_Missense_Mutation_p.D122N|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	122					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CCCACAGAGTCCCATGGGAGC	0.552													23	72					0	0	0	0	T	120306990	C	T	120306990	3	4	328	1	0	0	0	0	1	0	0	0	7283	855	30	2	1194	2	HMGCS2	1	120306990	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	250438	120306990	128943631	148	58362											
NOTCH2	4853	broad.mit.edu	37	chr1	120512305	120512305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attgcggttggcacaggtgcCcccattttgacaggcattgg	7	11	13	10	1	0	1	0	1	0	0	0	1	0	1	2	5	2	3	2	5	0	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:120512305C>T	ENST00000256646.2	-	6	1156	c.937G>A	c.(937-939)Ggc>Agc	p.G313S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	313	EGF-like 8; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.G313C(1)		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)		GCACAGGTGCCCCCATTTTGA	0.512			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				16	25					0	0	0	0	T	120512305	C	T	120512305	3	4	328	1	0	0	0	0	1	0	0	0	10618	623	22	4	6594	4	NOTCH2	1	120512305	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	205315	120512305	128738316	149	58363											
PDE4DIP	9659	broad.mit.edu	37	chr1	144852491	144852491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtacatggcagagcccttagGgatttcacctgcagacaaac	12	8	10	11	0	1	2	1	0	0	2	1	3	1	3	2	2	4	3	2	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:144852491G>A	ENST00000369359.4	-	47	7454	c.7416C>T	c.(7414-7416)tcC>tcT	p.S2472S	PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Silent_p.S2230S|PDE4DIP_ENST00000369354.3_Silent_p.S2336S|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.S2421S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2336					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGCCCTTAGGGATTTCACCT	0.507			T	PDGFRB	MPD								5	26					0	0	0	0	A	144852491	G	A	144852491	2	1	328	1	0	0	0	0	0	0	0	1	11714	1219	43	4		4	PDE4DIP	1	144852491	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	24340186	144852491	104398130	150	58364											
PDE4DIP	9659	broad.mit.edu	37	chr1	144917882	144917882	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaagcaacatttcatttgcTtcaagggttttgtctgagtt	9	17	8	7	0	4	1	3	1	1	0	4	1	4	1	0	1	3	4	0	1	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:144917882T>G	ENST00000529945.1	-	7	2332	c.1893A>C	c.(1891-1893)gaA>gaC	p.E631D	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E468D|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E468D|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E605D|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.E255D|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E631D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E534D|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E468D|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E468D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E605D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	468					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTCATTTGCTTCAAGGGTTT	0.368			T	PDGFRB	MPD								34	303					0	0	0	0	G	144917882	T	G	144917882	3	3	328	1	0	0	0	0	1	0	0	0	11714	1606	56	5	5782	5	PDE4DIP	1	144917882	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	65391	144917882	104332739	151	58365											
SEC22B	9554	broad.mit.edu	37	chr1	145103915	145103915	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttctttcagtctggccGggaccttcaacagtatcaga	8	13	9	11	1	6	1	3	0	3	1	6	2	6	2	2	2	1	1	2	2	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:145103915G>A	ENST00000453618.1	+	0	410							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGTCTGGCCGGGACCTTCAA	0.418													5	7					0	0	0	0	A	145103915	G	A	145103915	1	1	328	0	1	0	0	0	0	0	0	0	14076	1116	39	1		1	SEC22B	1	145103915	RNA	SNP	G	TCGA-CV-7568-01A-11D-2229-08	186033	145103915	104146706	152	58366											
ITGA10	8515	broad.mit.edu	37	chr1	145530899	145530899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgggactggtacagtatgggGagagccctgtacatgagtgg	9	9	17	6	0	0	2	0	1	0	1	0	4	0	3	1	5	3	3	1	5	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:145530899G>A	ENST00000369304.3	+	7	806	c.631G>A	c.(631-633)Gag>Aag	p.E211K	ITGA10_ENST00000538811.1_Missense_Mutation_p.E80K|ITGA10_ENST00000539363.1_Missense_Mutation_p.E68K	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	211	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACAGTATGGGGAGAGCCCTGT	0.493													19	22					0	0	0	0	A	145530899	G	A	145530899	3	1	328	1	0	0	0	0	1	0	0	0	7926	1175	41	2	657	2	ITGA10	1	145530899	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	426984	145530899	103719722	153	58367											
CA14	23632	broad.mit.edu	37	chr1	150237006	150237006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttccaggaagaagaggctgGaaaaccgaaagagtgtggtc	14	7	14	6	1	0	3	0	0	0	3	2	6	1	5	2	4	1	1	2	4	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:150237006G>A	ENST00000369111.4	+	11	1931	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	321						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAGAGGCTGGAAAACCGAAA	0.443													16	24					0	0	0	0	A	150237006	G	A	150237006	3	1	328	1	0	0	0	0	1	0	0	0	2540	1175	41	2	1003	2	CA14	1	150237006	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4706107	150237006	99013615	154	58368											
PIP5K1A	8394	broad.mit.edu	37	chr1	151205158	151205158	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcggaatttctgcagaaGctgcttccaggatactacat	11	10	11	9	1	1	1	0	0	1	1	2	4	2	3	1	3	5	3	1	3	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151205158G>A	ENST00000409426.1	+	6	1027	c.582G>A	c.(580-582)aaG>aaA	p.K194K	PIP5K1A_ENST00000368890.4_Silent_p.K193K|PIP5K1A_ENST00000368888.4_Silent_p.K206K|PIP5K1A_ENST00000441902.2_Silent_p.K194K			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	206	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCTGCAGAAGCTGCTTCCAG	0.498													9	41					0	0	0	0	A	151205158	G	A	151205158	2	1	328	1	0	0	0	0	0	0	0	1	12011	962	34	4		4	PIP5K1A	1	151205158	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	968152	151205158	98045463	155	58369											
ZNF687	57592	broad.mit.edu	37	chr1	151259471	151259471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatcatccccaggtcctagCccaacaaggctcaggctcca	10	6	7	18	0	2	0	2	0	0	0	5	0	5	0	6	3	2	2	6	3	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151259471C>T	ENST00000368879.2	+	2	802	c.704C>T	c.(703-705)gCc>gTc	p.A235V		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	235	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGTCCTAGCCCAACAAGGC	0.642													20	75					0	0	0	0	T	151259471	C	T	151259471	3	4	328	1	0	0	0	0	1	0	0	0	18187	739	26	4	706	4	ZNF687	1	151259471	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	54313	151259471	97991150	156	58370											
ZNF687	57592	broad.mit.edu	37	chr1	151261020	151261020	+	Missense_Mutation	SNP	C	C	T																															acaggtgtgcccaacctgccCcatgatgctccccaatcgct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151261020C>T	ENST00000368879.2	+	3	2230	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAACCTGCCCCATGATGCTC	0.567													8	50					0	0	0	0	T	151261020	C	T	151261020	3	4	328	1	0	0	0	0	1	0	0	0	18187	623	22	4	2138	4	ZNF687	1	151261020	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1549	151261020	97989601	157	58371	488	2									
ZNF687	57592	broad.mit.edu	37	chr1	151261021	151261021	+	Silent	SNP	C	C	T																															caggtgtgcccaacctgcccCatgatgctccccaatcgctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151261021C>T	ENST00000368879.2	+	3	2231	c.2133C>T	c.(2131-2133)ccC>ccT	p.P711P		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAACCTGCCCCATGATGCTCC	0.572													8	51					0	0	0	0	T	151261021	C	T	151261021	2	4	328	1	0	0	0	0	0	0	0	1	18187	581	21	4		4	ZNF687	1	151261021	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	151261021	97989600	158	58372	488	2									
POGZ	23126	broad.mit.edu	37	chr1	151396657	151396657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagggtgtggaagcaacagGagctgttttctcaggggatg	10	9	17	5	0	1	1	1	0	1	1	2	4	1	4	0	5	3	3	0	5	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151396657G>A	ENST00000271715.2	-	9	1605	c.1291C>T	c.(1291-1293)Cct>Tct	p.P431S	POGZ_ENST00000361398.3_Missense_Mutation_p.P378S|POGZ_ENST00000409503.1_Missense_Mutation_p.P422S|POGZ_ENST00000531094.1_Missense_Mutation_p.P369S|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000392723.1_Missense_Mutation_p.P378S|POGZ_ENST00000368863.2_Missense_Mutation_p.P336S|POGZ_ENST00000491586.1_Missense_Mutation_p.P378S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	431					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAAGCAACAGGAGCTGTTTTC	0.517													27	77					0	0	0	0	A	151396657	G	A	151396657	3	1	328	1	0	0	0	0	1	0	0	0	12258	1174	41	2	2985	2	POGZ	1	151396657	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	135636	151396657	97853964	159	58373											
CGN	57530	broad.mit.edu	37	chr1	151491492	151491492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccgaaagtggcttcccCaggtagcaccattgacactg	10	7	10	14	1	0	1	0	1	0	0	1	2	1	1	5	2	2	3	5	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151491492C>T	ENST00000271636.7	+	2	630	c.497C>T	c.(496-498)cCa>cTa	p.P166L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	160	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGGCTTCCCCAGGTAGCACC	0.602													19	76					0	0	0	0	T	151491492	C	T	151491492	3	4	328	1	0	0	0	0	1	0	0	0	3332	594	21	4	499	4	CGN	1	151491492	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	94835	151491492	97759129	160	58374											
TCHHL1	126637	broad.mit.edu	37	chr1	152057805	152057805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagaacagggctcttggtCtctctgcatctgcttttcaa	8	13	8	12	0	5	1	1	0	4	1	6	1	5	1	0	2	3	3	0	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152057805C>T	ENST00000368806.1	-	3	2417	c.2353G>A	c.(2353-2355)Gac>Aac	p.D785N		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	785							calcium ion binding	p.D785Y(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGCTCTTGGTCTCTCTGCATC	0.488													40	43					0	0	0	0	T	152057805	C	T	152057805	3	4	328	1	0	0	0	0	1	0	0	0	15795	913	32	2	365	2	TCHHL1	1	152057805	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	566313	152057805	97192816	161	58375											
TCHH	7062	broad.mit.edu	37	chr1	152079984	152079984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatggcccttcccttcttgGgattttatctccccgacttg	4	15	7	15	1	2	0	0	0	2	0	4	2	3	1	5	2	0	0	5	2	1	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152079984G>A	ENST00000368804.1	-	2	5708	c.5709C>T	c.(5707-5709)tcC>tcT	p.S1903S		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1903					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTTCTTGGGATTTTATCT	0.577													51	49					0	0	0	0	A	152079984	G	A	152079984	2	1	328	1	0	0	0	0	0	0	0	1	15794	1219	43	4		4	TCHH	1	152079984	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	22179	152079984	97170637	162	58376											
HRNR	388697	broad.mit.edu	37	chr1	152191937	152191937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgtgttttctgtagccggagGagtgacttgagccagatcca	8	11	13	9	2	1	3	0	2	1	1	2	5	2	5	3	2	2	2	3	2	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152191937G>A	ENST00000368801.2	-	3	2243	c.2168C>T	c.(2167-2169)tCc>tTc	p.S723F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	723					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGCCGGAGGAGTGACTTGA	0.542													87	91					0	0	0	0	A	152191937	G	A	152191937	3	1	328	1	0	0	0	0	1	0	0	0	7409	1174	41	2	6388	2	HRNR	1	152191937	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	111953	152191937	97058684	163	58377											
FLG	2312	broad.mit.edu	37	chr1	152283284	152283284	+	Missense_Mutation	SNP	G	G	A																															gtctgctgactgctggtggcGggatccatgtctttctcctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152283284G>A	ENST00000368799.1	-	3	4113	c.4078C>T	c.(4078-4080)Cgc>Tgc	p.R1360C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1360	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1360S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGTGGCGGGATCCATGT	0.542									Ichthyosis				91	321					0	0	0	0	A	152283284	G	A	152283284	3	1	328	1	0	0	0	0	1	0	0	0	5967	1116	39	1	8111	1	FLG	1	152283284	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	91347	152283284	96967337	164	58378	489	2									
FLG	2312	broad.mit.edu	37	chr1	152283285	152283285	+	Silent	SNP	G	G	A																															tctgctgactgctggtggcgGgatccatgtctttctcctgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152283285G>A	ENST00000368799.1	-	3	4112	c.4077C>T	c.(4075-4077)tcC>tcT	p.S1359S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1359	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGTGGCGGGATCCATGTC	0.542									Ichthyosis				93	324					0	0	0	0	A	152283285	G	A	152283285	2	1	328	1	0	0	0	0	0	0	0	1	5967	1219	43	4		4	FLG	1	152283285	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	152283285	96967336	165	58379	489	2									
FLG	2312	broad.mit.edu	37	chr1	152285010	152285010	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgaacgtcgagacctttcCcctgaccggtcacgtgcgga	7	8	11	15	5	1	3	1	2	0	1	3	5	2	4	5	2	2	0	5	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152285010C>T	ENST00000368799.1	-	3	2387	c.2352G>A	c.(2350-2352)ggG>ggA	p.G784G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	784	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGACCTTTCCCCTGACCGGT	0.562									Ichthyosis				62	223					0	0	0	0	T	152285010	C	T	152285010	2	4	328	1	0	0	0	0	0	0	0	1	5967	610	22	4		4	FLG	1	152285010	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1725	152285010	96965611	166	58380											
LCE1F	353137	broad.mit.edu	37	chr1	152748972	152748972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taagtgccctcctgtctcttCctgctgcagcgtcagctccg	4	12	9	16	2	2	0	1	0	1	0	6	0	5	0	4	0	5	3	4	0	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152748972C>T	ENST00000334371.2	+	1	125	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	42					keratinization			p.S42F(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ccTGTCTCTTCCTGCTGCAGC	0.677													22	52					0	0	0	0	T	152748972	C	T	152748972	3	4	328	1	0	0	0	0	1	0	0	0	8717	855	30	2	127	2	LCE1F	1	152748972	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	463962	152748972	96501649	167	58381											
SPRR3	6707	broad.mit.edu	37	chr1	152975579	152975579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaacccagccagcctcCacctcaggaaatatttgttc	13	8	6	14	0	1	0	1	0	0	0	3	2	2	1	5	1	4	1	5	1	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152975579C>T	ENST00000331860.3	+	3	233	c.83C>T	c.(82-84)cCa>cTa	p.P28L	SPRR3_ENST00000295367.4_Missense_Mutation_p.P28L|SPRR3_ENST00000542696.1_Missense_Mutation_p.P28L	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	28					keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCAGCCTCCACCTCAGGAA	0.512													19	28					0	0	0	0	T	152975579	C	T	152975579	3	4	328	1	0	0	0	0	1	0	0	0	15193	594	21	4	85	4	SPRR3	1	152975579	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	226607	152975579	96275042	168	58382											
S100A7	6278	broad.mit.edu	37	chr1	153430317	153430317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagggcgctgctccatGgctctgcttgtggtagtctg	5	11	15	10	1	2	0	0	0	2	0	3	1	3	1	1	4	3	5	1	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:153430317G>A	ENST00000368723.3	-	3	381	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	S100A7_ENST00000368722.1_Missense_Mutation_p.H91Y	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	91					angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCTCCATGGCTCTGCTTG	0.517													34	43					0	0	0	0	A	153430317	G	A	153430317	3	1	328	1	0	0	0	0	1	0	0	0	13868	1348	47	4	38	4	S100A7	1	153430317	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	454738	153430317	95820304	169	58383											
DENND4B	9909	broad.mit.edu	37	chr1	153914419	153914419	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaaggcgcggaaggcaggGaaggcaggccagcgggacag	12	0	21	8	3	0	0	0	0	0	0	0	4	0	4	1	8	1	2	1	8	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:153914419G>A	ENST00000361217.4	-	6	1399	c.981C>T	c.(979-981)ttC>ttT	p.F327F		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	327	DENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAAGGCAGGGAAGGCAGGCC	0.692													12	18					0	0	0	0	A	153914419	G	A	153914419	2	1	328	1	0	0	0	0	0	0	0	1	4471	1165	41	2		2	DENND4B	1	153914419	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	484102	153914419	95336202	170	58384											
NUP210L	91181	broad.mit.edu	37	chr1	154099876	154099876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctagactccatcggtttcCaggttggacagtgaaaccta	10	11	9	11	1	1	2	0	1	1	1	4	3	3	3	3	3	1	2	3	3	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:154099876C>T	ENST00000368559.3	-	9	1167	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	NUP210L_ENST00000271854.3_Missense_Mutation_p.G366R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	366						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CATCGGTTTCCAGGTTGGACA	0.358													16	17					0	0	0	0	T	154099876	C	T	154099876	3	4	328	1	0	0	0	0	1	0	0	0	10832	603	21	4	4698	4	NUP210L	1	154099876	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	185457	154099876	95150745	171	58385											
HAX1	10456	broad.mit.edu	37	chr1	154246418	154246418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accagcaccagactggggctCccagaggccatttcataggg	10	6	12	13	0	1	2	1	0	0	2	2	2	2	2	4	4	1	2	4	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:154246418C>T	ENST00000328703.7	+	3	698	c.485C>T	c.(484-486)tCc>tTc	p.S162F	HAX1_ENST00000532105.1_Missense_Mutation_p.S34F|HAX1_ENST00000483970.2_Missense_Mutation_p.S170F|HAX1_ENST00000457918.2_Missense_Mutation_p.S114F	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	162	Involved in HCLS1 binding.					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACTGGGGCTCCCAGAGGCCA	0.527									Kostmann syndrome				36	33					0	0	0	0	T	154246418	C	T	154246418	3	4	328	1	0	0	0	0	1	0	0	0	7025	855	30	2	495	2	HAX1	1	154246418	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	146542	154246418	95004203	172	58386											
HAX1	10456	broad.mit.edu	37	chr1	154248134	154248134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccctggatgatgccttttCcatcctggacttattcctgg	6	14	9	12	0	0	1	0	1	0	0	3	3	3	3	5	3	2	0	5	3	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:154248134C>T	ENST00000328703.7	+	7	1010	c.797C>T	c.(796-798)tCc>tTc	p.S266F	HAX1_ENST00000532105.1_Missense_Mutation_p.S138F|HAX1_ENST00000483970.2_Missense_Mutation_p.S274F|HAX1_ENST00000457918.2_Missense_Mutation_p.S218F	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	266	Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GATGCCTTTTCCATCCTGGAC	0.498									Kostmann syndrome				11	28					0	0	0	0	T	154248134	C	T	154248134	3	4	328	1	0	0	0	0	1	0	0	0	7025	855	30	2	823	2	HAX1	1	154248134	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1716	154248134	95002487	173	58387											
PMVK	10654	broad.mit.edu	37	chr1	154898901	154898901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcggaccgtctgcgtcacgGccccataggcctcccgaaac	7	5	11	18	6	2	0	1	0	1	0	3	2	3	1	5	3	2	0	5	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:154898901G>A	ENST00000368467.3	-	4	676	c.371C>T	c.(370-372)gCc>gTc	p.A124V		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	124					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGCGTCACGGCCCCATAGGC	0.612													16	21					0	0	0	0	A	154898901	G	A	154898901	3	1	328	1	0	0	0	0	1	0	0	0	12216	1203	42	4	215	4	PMVK	1	154898901	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	650767	154898901	94351720	174	58388											
THBS3	7059	broad.mit.edu	37	chr1	155172169	155172169	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgatgcagctggagcccggGaaacaggggtcagcgtgagc	9	6	17	9	2	1	2	1	2	0	0	1	4	1	4	1	4	6	2	1	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:155172169G>A	ENST00000368378.3	-	9	1001	c.981C>T	c.(979-981)ttC>ttT	p.F327F	THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000457183.2_Silent_p.F207F|THBS3_ENST00000428962.2_Silent_p.F177F|THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	327	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGAGCCCGGGAAACAGGGGT	0.607													17	54					0	0	0	0	A	155172169	G	A	155172169	2	1	328	1	0	0	0	0	0	0	0	1	15949	1165	41	2		2	THBS3	1	155172169	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	273268	155172169	94078452	175	58389											
YY1AP1	55249	broad.mit.edu	37	chr1	155630378	155630378	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcaccattttgctcggaggGgcttctgaatgagttgattg	8	13	13	7	1	1	3	0	3	1	0	2	4	1	4	1	3	2	4	1	3	1	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:155630378G>A	ENST00000368340.5	-	10	1785	c.1677C>T	c.(1675-1677)gcC>gcT	p.A559A	YY1AP1_ENST00000535662.1_Silent_p.A287A|YY1AP1_ENST00000295566.4_Silent_p.A487A|YY1AP1_ENST00000311573.5_Silent_p.A410A|YY1AP1_ENST00000407221.1_Silent_p.A410A|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Silent_p.A430A|YY1AP1_ENST00000368330.2_Silent_p.A441A|YY1AP1_ENST00000404643.1_Silent_p.A421A|YY1AP1_ENST00000359205.5_Silent_p.A430A|YY1AP1_ENST00000355499.4_Silent_p.A441A|YY1AP1_ENST00000347088.5_Silent_p.A441A|YY1AP1_ENST00000368339.5_Silent_p.A579A|MSTO1_ENST00000538143.1_Intron	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGCTCGGAGGGGCTTCTGAAT	0.557													27	66					0	0	0	0	A	155630378	G	A	155630378	2	1	328	1	0	0	0	0	0	0	0	1	17604	1219	43	4		4	YY1AP1	1	155630378	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	458209	155630378	93620243	176	58390											
SYT11	23208	broad.mit.edu	37	chr1	155838038	155838038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggctggcctgctaagccGagacaaagatcccagggggc	11	4	15	11	1	0	3	0	0	0	3	1	4	1	3	3	4	2	2	3	4	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:155838038G>A	ENST00000368324.4	+	2	570	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	106						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CTGCTAAGCCGAGACAAAGAT	0.512													49	53					0	0	0	0	A	155838038	G	A	155838038	3	1	328	1	0	0	0	0	1	0	0	0	15558	1058	37	1	323	1	SYT11	1	155838038	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	207660	155838038	93412583	177	58391											
SYT11	23208	broad.mit.edu	37	chr1	155851257	155851257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagaggtctgcgagagcccCcgcaagcctgtggccaagtg	9	5	15	12	2	1	2	0	0	1	2	1	4	1	2	4	2	3	1	4	2	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:155851257C>T	ENST00000368324.4	+	4	1507	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	SYT11_ENST00000539162.1_Silent_p.P111P	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	418						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GCGAGAGCCCCCGCAAGCCTG	0.607													28	57					0	0	0	0	T	155851257	C	T	155851257	2	4	328	1	0	0	0	0	0	0	0	1	15558	610	22	4		4	SYT11	1	155851257	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	13219	155851257	93399364	178	58392											
MEF2D	4209	broad.mit.edu	37	chr1	156438605	156438605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagatacagggaccaggtggGactgttgctgaggtggctgt	8	9	18	6	0	0	2	0	1	0	1	0	5	0	4	1	5	2	3	1	5	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:156438605G>A	ENST00000348159.4	-	10	1694	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	MEF2D_ENST00000340875.5_Missense_Mutation_p.S404F|MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000353795.3_Missense_Mutation_p.S359F|MEF2D_ENST00000360595.3_Missense_Mutation_p.S398F|MEF2D_ENST00000368240.2_Missense_Mutation_p.S398F	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	405					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACCAGGTGGGACTGTTGCTG	0.617													27	39					0	0	0	0	A	156438605	G	A	156438605	3	1	328	1	0	0	0	0	1	0	0	0	9527	1174	41	2	363	2	MEF2D	1	156438605	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	587348	156438605	92812016	179	58393											
BCAN	63827	broad.mit.edu	37	chr1	156621425	156621425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catccccatcatggaggacgGaggaggtggaagctccactc	10	6	13	12	1	1	0	1	0	0	0	4	5	3	5	3	6	1	1	3	6	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:156621425G>A	ENST00000329117.4	+	7	1577	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	BCAN_ENST00000361588.5_Missense_Mutation_p.G414E|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	414	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGGAGGACGGAGGAGGTGGA	0.562													41	57					0	0	0	0	A	156621425	G	A	156621425	3	1	328	1	0	0	0	0	1	0	0	0	1349	1174	41	2	1263	2	BCAN	1	156621425	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	182820	156621425	92629196	180	58394											
NES	10763	broad.mit.edu	37	chr1	156639725	156639725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcctctccctcctcccCactttcttcctcatctgcaa	5	14	1	21	0	4	0	1	0	3	0	10	0	9	0	7	0	1	1	7	0	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:156639725C>T	ENST00000368223.3	-	4	4387	c.4255G>A	c.(4255-4257)Ggg>Agg	p.G1419R		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1419	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ccctcctccccactttcttcc	0.652													11	22					0	0	0	0	T	156639725	C	T	156639725	3	4	328	1	0	0	0	0	1	0	0	0	10407	594	21	4	614	4	NES	1	156639725	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	18300	156639725	92610896	181	58395											
NES	10763	broad.mit.edu	37	chr1	156640436	156640436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggaacgcctcctctgctcCcctgggggcctcagcctctg	4	8	12	17	1	3	0	1	0	2	0	5	1	5	1	6	3	3	1	6	3	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:156640436C>T	ENST00000368223.3	-	4	3676	c.3544G>A	c.(3544-3546)Gga>Aga	p.G1182R		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1182	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTCTGCTCCCCTGGGGGCC	0.642													24	78					0	0	0	0	T	156640436	C	T	156640436	3	4	328	1	0	0	0	0	1	0	0	0	10407	632	22	4	1325	4	NES	1	156640436	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	711	156640436	92610185	182	58396											
NES	10763	broad.mit.edu	37	chr1	156642835	156642835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtgctggccaaggtagggGtacgggcctggaggaattct	7	8	19	7	1	1	0	0	0	1	0	1	2	1	2	2	8	2	3	2	8	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:156642835G>A	ENST00000368223.3	-	4	1277	c.1145C>T	c.(1144-1146)aCc>aTc	p.T382I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	382	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAAGGTAGGGGTACGGGCCTG	0.602													56	45					0	0	0	0	A	156642835	G	A	156642835	3	1	328	1	0	0	0	0	1	0	0	0	10407	1261	44	4	3724	4	NES	1	156642835	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2399	156642835	92607786	183	58397											
ETV3L	440695	broad.mit.edu	37	chr1	157068517	157068517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcactctgcacacccacgGgcaccagcgctggccgacac	8	4	9	20	3	2	0	1	0	1	0	2	1	2	0	4	2	2	3	4	2	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:157068517G>T	ENST00000454449.2	-	3	751	c.467C>A	c.(466-468)cCc>cAc	p.P156H		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	156						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CACACCCACGGGCACCAGCGC	0.662													12	29					1.52009e-12	1.54038e-12	1	0	T	157068517	G	T	157068517	3	4	328	1	0	0	0	0	1	0	0	0	5318	1232	43	4	630	4	ETV3L	1	157068517	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	425682	157068517	92182104	184	58398											
FCRL5	83416	broad.mit.edu	37	chr1	157516741	157516741	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgctctctcacctgaagaaAaatccaagtgcacagggcta	14	7	8	12	1	2	2	1	1	1	1	4	2	3	2	2	1	1	3	2	1	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:157516741A>G	ENST00000361835.3	-	3	456	c.299T>C	c.(298-300)tTt>tCt	p.F100S	FCRL5_ENST00000356953.4_Missense_Mutation_p.F100S|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.F100S|FCRL5_ENST00000368189.3_Missense_Mutation_p.F100S|FCRL5_ENST00000368190.3_Missense_Mutation_p.F100S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	100	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACCTGAAGAAAAATCCAAGTG	0.473													33	38					0	0	0	0	G	157516741	A	G	157516741	3	3	328	1	0	0	0	0	1	0	0	0	5843	14	1	5	2694	5	FCRL5	1	157516741	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	448224	157516741	91733880	185	58399											
FCRL4	83417	broad.mit.edu	37	chr1	157545400	157545400	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agagtagacaactgagacatCctgaaatggaagaaagaagt	19	6	11	5	0	0	6	0	2	0	5	1	8	1	7	1	1	1	1	1	1	6	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:157545400C>T	ENST00000271532.1	-	12	1597	c.1461_splice	c.e12-1	p.D488_splice	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	488						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ACTGAGACATCCTGAAATGGA	0.428													11	47					0	0	0	0	T	157545400	C	T	157545400	5	4	328	1	0	0	0	0	0	0	1	0	5842	869	30	2	89	2	FCRL4	1	157545400	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	28659	157545400	91705221	186	58400											
FCRL2	79368	broad.mit.edu	37	chr1	157737157	157737157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagagggggccgagctgttCccaagggtgacatcctcatg	8	7	14	12	1	1	2	1	1	0	1	3	3	3	2	4	3	1	2	4	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:157737157C>T	ENST00000361516.3	-	6	1074	c.1026G>A	c.(1024-1026)ggG>ggA	p.G342G	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Silent_p.G89G|FCRL2_ENST00000392274.3_Silent_p.G342G	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	342	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCGAGCTGTTCCCAAGGGTGA	0.582													31	71					0	0	0	0	T	157737157	C	T	157737157	2	4	328	1	0	0	0	0	0	0	0	1	5840	842	30	2		2	FCRL2	1	157737157	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	191757	157737157	91513464	187	58401											
OR6Y1	391112	broad.mit.edu	37	chr1	158516955	158516955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catttccctggggcccacttCctctgcaatgtatggtcttt	5	15	8	13	0	2	0	0	0	2	0	4	0	4	0	3	3	1	2	3	3	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158516955C>T	ENST00000302617.3	-	1	940	c.941G>A	c.(940-942)gGa>gAa	p.G314E		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGGCCCACTTCCTCTGCAATG	0.458													10	51					0	0	0	0	T	158516955	C	T	158516955	3	4	328	1	0	0	0	0	1	0	0	0	11284	855	30	2	38	2	OR6Y1	1	158516955	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	779798	158516955	90733666	188	58402											
SPTA1	6708	broad.mit.edu	37	chr1	158614052	158614052	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcattattacctgggcagtGattgctttgtccaaatcgtc	8	15	9	9	1	1	1	1	1	0	0	4	1	2	1	2	1	2	2	2	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158614052G>A	ENST00000368148.3	-	30	4509	c.4329C>T	c.(4327-4329)atC>atT	p.I1443I	SPTA1_ENST00000368147.3_Silent_p.I1443I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1443					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTGGGCAGTGATTGCTTTGT	0.373													22	27					0	0	0	0	A	158614052	G	A	158614052	2	1	328	1	0	0	0	0	0	0	0	1	15206	1280	45	2		2	SPTA1	1	158614052	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	97097	158614052	90636569	189	58403											
SPTA1	6708	broad.mit.edu	37	chr1	158619695	158619695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccagcagctgccgctgttCatctgcaagcctctgcaaag	8	8	10	15	1	3	0	1	0	2	0	3	0	3	0	3	0	6	6	3	0	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158619695C>T	ENST00000368148.3	-	25	3700	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E1174K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1174					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCCGCTGTTCATCTGCAAGC	0.453													9	31					0	0	0	0	T	158619695	C	T	158619695	3	4	328	1	0	0	0	0	1	0	0	0	15206	835	29	2	3851	2	SPTA1	1	158619695	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5643	158619695	90630926	190	58404											
SPTA1	6708	broad.mit.edu	37	chr1	158627453	158627453	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctggttcaaactcttgacCctagaggccacatcttctgc	8	13	7	13	0	5	2	1	1	4	1	5	2	5	2	2	2	2	1	2	2	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158627453C>T	ENST00000368148.3	-	19	2799	c.2619G>A	c.(2617-2619)agG>agA	p.R873R	SPTA1_ENST00000368147.3_Silent_p.R873R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	873					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AACTCTTGACCCTAGAGGCCA	0.453													20	71					0	0	0	0	T	158627453	C	T	158627453	2	4	328	1	0	0	0	0	0	0	0	1	15206	622	22	4		4	SPTA1	1	158627453	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7758	158627453	90623168	191	58405											
OR6K2	81448	broad.mit.edu	37	chr1	158670072	158670072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgaagagggctgcatatgGccaggtagtggtcaaaggcc	12	7	15	7	0	1	2	1	1	0	1	1	2	1	2	2	5	1	3	2	5	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158670072G>A	ENST00000359610.2	-	1	414	c.371C>T	c.(370-372)gCc>gTc	p.A124V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GCTGCATATGGCCAGGTAGTG	0.468													15	54					0	0	0	0	A	158670072	G	A	158670072	3	1	328	1	0	0	0	0	1	0	0	0	11273	1203	42	4	607	4	OR6K2	1	158670072	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	42619	158670072	90580549	192	58406											
OR6N2	81442	broad.mit.edu	37	chr1	158746855	158746855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaatgttagcagatgtgtCcttgcaggccaagctcagca	11	9	11	10	0	1	2	1	0	0	2	2	2	2	2	2	1	4	5	2	1	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158746855C>T	ENST00000339258.1	-	1	570	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GCAGATGTGTCCTTGCAGGCC	0.418													10	25					0	0	0	0	T	158746855	C	T	158746855	3	4	328	1	0	0	0	0	1	0	0	0	11278	855	30	2	385	2	OR6N2	1	158746855	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	76783	158746855	90503766	193	58407											
MNDA	4332	broad.mit.edu	37	chr1	158815606	158815606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtaaggaagaaggtcattaCcatatctgattactctgaat	14	13	8	6	0	3	3	1	2	2	1	3	4	3	4	1	2	2	1	1	2	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158815606C>T	ENST00000368141.4	+	5	1061	c.800C>T	c.(799-801)aCc>aTc	p.T267I		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	267	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAGGTCATTACCATATCTGAT	0.348													6	32					0	0	0	0	T	158815606	C	T	158815606	3	4	328	1	0	0	0	0	1	0	0	0	9746	507	18	4	814	4	MNDA	1	158815606	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	68751	158815606	90435015	194	58408											
OR10J3	441911	broad.mit.edu	37	chr1	159284021	159284021	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtgatccagaggccagttgGatacaggccctcttacccat	10	9	10	12	0	1	2	0	1	1	1	2	3	2	3	4	3	2	1	4	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:159284021G>A	ENST00000332217.5	-	1	428	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGGCCAGTTGGATACAGGCCC	0.517													19	33					0	0	0	0	A	159284021	G	A	159284021	2	1	328	1	0	0	0	0	0	0	0	1	10982	1164	41	2		2	OR10J3	1	159284021	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	468415	159284021	89966600	195	58409											
ADAMTS4	9507	broad.mit.edu	37	chr1	161163958	161163958	+	Missense_Mutation	SNP	G	G	A																															agcatcatagtccttgccagGgaaagtcacaggcagatgca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:161163958G>A	ENST00000367996.4	-	5	1743	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	439	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCTTGCCAGGGAAAGTCACA	0.622													34	45					0	0	0	0	A	161163958	G	A	161163958	3	1	328	1	0	0	0	0	1	0	0	0	268	1232	43	4	1218	4	ADAMTS4	1	161163958	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1879937	161163958	88086663	196	58410	490	2									
ADAMTS4	9507	broad.mit.edu	37	chr1	161163959	161163959	+	Silent	SNP	G	G	A																															gcatcatagtccttgccaggGaaagtcacaggcagatgcaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:161163959G>A	ENST00000367996.4	-	5	1742	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	438	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTTGCCAGGGAAAGTCACAG	0.617													34	44					0	0	0	0	A	161163959	G	A	161163959	2	1	328	1	0	0	0	0	0	0	0	1	268	1165	41	2		2	ADAMTS4	1	161163959	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	161163959	88086662	197	58411	490	2									
MPZ	4359	broad.mit.edu	37	chr1	161275697	161275697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttgcgagactcccccagcCccttggccttcttctcactg	4	11	7	19	1	2	1	1	0	2	1	4	2	3	1	6	1	2	0	6	1	0	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:161275697C>T	ENST00000533357.1	-	6	782	c.716G>A	c.(715-717)gGg>gAg	p.G239E	MPZ_ENST00000336559.4_Missense_Mutation_p.G239S|MPZ_ENST00000491222.2_Missense_Mutation_p.G43E|MPZ_ENST00000360451.6_Missense_Mutation_p.G249E|MPZ_ENST00000526189.1_5'UTR	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	239					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTCCCCCAGCCCCTTGGCCTT	0.617													25	43					0	0	0	0	T	161275697	C	T	161275697	3	4	328	1	0	0	0	0	1	0	0	0	9818	623	22	4	34	4	MPZ	1	161275697	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	111738	161275697	87974924	198	58412											
DUSP12	11266	broad.mit.edu	37	chr1	161722871	161722871	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggggttgcaggcgatcAttatttcgaagttctagtat	8	16	12	5	2	2	0	1	0	1	0	3	2	2	0	0	3	1	4	0	3	4	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:161722871A>T	ENST00000367943.4	+	5	713	c.681A>T	c.(679-681)tcA>tcT	p.S227S	DUSP12_ENST00000484291.1_3'UTR	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	227					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GCAGGCGATCATTATTTCGAA	0.413													52	55					0	0	0	0	T	161722871	A	T	161722871	2	4	328	1	0	0	0	0	0	0	0	1	4848	204	8	5		5	DUSP12	1	161722871	Silent	SNP	A	TCGA-CV-7568-01A-11D-2229-08	447174	161722871	87527750	199	58413											
DDR2	4921	broad.mit.edu	37	chr1	162725086	162725086	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggagctttacggctgtgtCtggctaggtaggtcactagc	6	12	15	8	1	2	0	1	0	1	0	2	1	2	1	0	5	3	4	0	5	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:162725086C>T	ENST00000367922.2	+	7	996	c.558C>T	c.(556-558)gtC>gtT	p.V186V	DDR2_ENST00000367921.3_Silent_p.V186V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	186					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACGGCTGTGTCTGGCTAGGTA	0.478													9	25					0	0	0	0	T	162725086	C	T	162725086	2	4	328	1	0	0	0	0	0	0	0	1	4369	900	32	2		2	DDR2	1	162725086	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1002215	162725086	86525535	200	58414											
DDR2	4921	broad.mit.edu	37	chr1	162748417	162748417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcctttggggttactttGtgggagactttcaccttttg	4	17	13	7	0	1	1	1	0	0	1	1	2	1	1	2	4	1	1	2	4	1	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:162748417G>T	ENST00000367922.2	+	18	2769	c.2331G>T	c.(2329-2331)ttG>ttT	p.L777F	DDR2_ENST00000367921.3_Missense_Mutation_p.L777F	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	777	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GGGTTACTTTGTGGGAGACTT	0.443													42	69					6.68952e-21	6.8285e-21	1	0	T	162748417	G	T	162748417	3	4	328	1	0	0	0	0	1	0	0	0	4369	1368	48	4	2389	4	DDR2	1	162748417	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	23331	162748417	86502204	201	58415											
C1orf110	339512	broad.mit.edu	37	chr1	162824805	162824805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatttgttttccagtgttcCcatctggctttagagcaaca	9	15	8	9	0	1	1	0	0	1	1	3	2	3	1	2	1	2	4	2	1	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:162824805C>T	ENST00000367910.1	-	4	779	c.659G>A	c.(658-660)gGg>gAg	p.G220E	C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	220										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TCCAGTGTTCCCATCTGGCTT	0.463													40	36					0	0	0	0	T	162824805	C	T	162824805	3	4	328	1	0	0	0	0	1	0	0	0	2002	623	22	4	253	4	C1orf110	1	162824805	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	76388	162824805	86425816	202	58416											
FAM78B	149297	broad.mit.edu	37	chr1	166039875	166039875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacggagaacctggagatcTtgttggtggggccaaccagg	9	8	16	8	1	1	3	0	1	1	2	1	5	1	3	3	6	2	1	3	6	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:166039875T>C	ENST00000338353.3	-	3	978	c.389A>G	c.(388-390)aAg>aGg	p.K130R	FAM78B_ENST00000354422.3_Missense_Mutation_p.K130R			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	130										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CCTGGAGATCTTGTTGGTGGG	0.532													19	55					0	0	0	0	C	166039875	T	C	166039875	3	2	328	1	0	0	0	0	1	0	0	0	5673	1609	56	5	400	5	FAM78B	1	166039875	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	3215070	166039875	83210746	203	58417											
DUSP27	92235	broad.mit.edu	37	chr1	167095284	167095284	+	Missense_Mutation	SNP	G	G	A																															agggcactgggagcatgctcGgggccagagtgcacgccctg																								rs139690458		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:167095284G>A	ENST00000361200.2	+	6	1082	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	DUSP27_ENST00000271385.5_Missense_Mutation_p.G306R|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Missense_Mutation_p.G306R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	306					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGCATGCTCGGGGCCAGAGT	0.657													6	14					0	0	0	0	A	167095284	G	A	167095284	3	1	328	1	0	0	0	0	1	0	0	0	4860	1116	39	1	934	1	DUSP27	1	167095284	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1055409	167095284	82155337	204	58418	491	2									
DUSP27	92235	broad.mit.edu	37	chr1	167095285	167095285	+	Missense_Mutation	SNP	G	G	A																															gggcactgggagcatgctcgGggccagagtgcacgccctga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:167095285G>A	ENST00000361200.2	+	6	1083	c.917G>A	c.(916-918)gGg>gAg	p.G306E	DUSP27_ENST00000271385.5_Missense_Mutation_p.G306E|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Missense_Mutation_p.G306E			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	306					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCATGCTCGGGGCCAGAGTG	0.657													6	15					0	0	0	0	A	167095285	G	A	167095285	3	1	328	1	0	0	0	0	1	0	0	0	4860	1232	43	4	935	4	DUSP27	1	167095285	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	167095285	82155336	205	58419	491	2									
DUSP27	92235	broad.mit.edu	37	chr1	167096524	167096524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggcctggagacaccatttCcattgccagtatccagaact	10	9	10	12	0	0	2	0	0	0	2	2	3	2	2	5	3	2	1	5	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:167096524C>T	ENST00000361200.2	+	6	2322	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F	DUSP27_ENST00000271385.5_Missense_Mutation_p.S719F|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.S719F			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	719					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GACACCATTTCCATTGCCAGT	0.547													15	30					0	0	0	0	T	167096524	C	T	167096524	3	4	328	1	0	0	0	0	1	0	0	0	4860	855	30	2	2174	2	DUSP27	1	167096524	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1239	167096524	82154097	206	58420											
POU2F1	5451	broad.mit.edu	37	chr1	167368547	167368547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatcaacccaccaagcaGtggtgggaccagcagctcac	14	4	10	13	0	2	1	2	0	0	1	2	2	2	2	3	2	4	3	3	2	4	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:167368547G>A	ENST00000367862.5	+	12	1596	c.1361G>A	c.(1360-1362)aGt>aAt	p.S454N	POU2F1_ENST00000429375.2_Missense_Mutation_p.S402N|POU2F1_ENST00000420254.3_Missense_Mutation_p.S442N|POU2F1_ENST00000367866.2_Missense_Mutation_p.S465N|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.S442N	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	442					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CCACCAAGCAGTGGTGGGACC	0.433													48	51					0	0	0	0	A	167368547	G	A	167368547	3	1	328	1	0	0	0	0	1	0	0	0	12342	1029	36	4	1367	4	POU2F1	1	167368547	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	272023	167368547	81882074	207	58421											
TBX19	9095	broad.mit.edu	37	chr1	168250508	168250508	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaggaagtcactaatgaGatgattgtgaccaagaatgg	15	10	11	5	0	2	4	2	3	0	2	2	6	2	5	1	2	0	0	1	2	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:168250508G>A	ENST00000367821.3	+	1	231	c.180G>A	c.(178-180)gaG>gaA	p.E60E		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	60					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCACTAATGAGATGATTGTGA	0.532													18	56					0	0	0	0	A	168250508	G	A	168250508	2	1	328	1	0	0	0	0	0	0	0	1	15748	933	33	2		2	TBX19	1	168250508	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	881961	168250508	81000113	208	58422											
F5	2153	broad.mit.edu	37	chr1	169509869	169509869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagatggcatctgaccaaGgtctggataaggaaaagact	15	7	13	6	0	2	3	0	1	2	2	2	6	2	5	1	5	0	1	1	5	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:169509869G>A	ENST00000367796.3	-	13	4675	c.4474C>T	c.(4474-4476)Ctt>Ttt	p.L1492F	F5_ENST00000367797.3_Missense_Mutation_p.L1487F			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1487	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATCTGACCAAGGTCTGGATAA	0.398													17	32					0	0	0	0	A	169509869	G	A	169509869	3	1	328	1	0	0	0	0	1	0	0	0	5386	1000	35	4	2267	4	F5	1	169509869	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1259361	169509869	79740752	209	58423											
SELP	6403	broad.mit.edu	37	chr1	169578792	169578792	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcccaagttatcacaccgaActatatcggctcctctcagc	10	10	6	15	2	2	0	2	0	1	0	6	1	4	0	3	1	2	2	3	1	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:169578792A>G	ENST00000263686.6	-	8	1320	c.1283T>C	c.(1282-1284)gTt>gCt	p.V428A	SELP_ENST00000458599.2_Missense_Mutation_p.V366A|SELP_ENST00000367793.2_Missense_Mutation_p.V366A|SELP_ENST00000367792.2_Missense_Mutation_p.V366A|SELP_ENST00000367788.2_Missense_Mutation_p.V366A|SELP_ENST00000367786.2_Missense_Mutation_p.V366A|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.V366A	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	428	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATCACACCGAACTATATCGGC	0.498													15	46					0	0	0	0	G	169578792	A	G	169578792	3	3	328	1	0	0	0	0	1	0	0	0	14106	43	2	5	1245	5	SELP	1	169578792	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	68923	169578792	79671829	210	58424											
SELE	6401	broad.mit.edu	37	chr1	169696637	169696637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagctcatgttgatctttcCcggaactgccaggcttgaac	8	11	10	12	1	2	2	1	2	1	0	3	3	3	3	2	2	4	4	2	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:169696637C>T	ENST00000333360.7	-	10	1637	c.1498G>A	c.(1498-1500)Gga>Aga	p.G500R	SELE_ENST00000367779.4_Missense_Mutation_p.G374R|SELE_ENST00000367776.1_Missense_Mutation_p.G437R|SELE_ENST00000367782.4_Missense_Mutation_p.G437R|SELE_ENST00000367774.1_Missense_Mutation_p.G374R|SELE_ENST00000367777.1_Missense_Mutation_p.G437R|SELE_ENST00000367780.4_Missense_Mutation_p.G375R|SELE_ENST00000367775.1_Missense_Mutation_p.G375R|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.G437R	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	500	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTGATCTTTCCCGGAACTGCC	0.488													13	20					0	0	0	0	T	169696637	C	T	169696637	3	4	328	1	0	0	0	0	1	0	0	0	14100	632	22	4	350	4	SELE	1	169696637	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	117845	169696637	79553984	211	58425											
SELE	6401	broad.mit.edu	37	chr1	169697064	169697064	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtggacagcatcgcatctCacagctggaacacacgagag	12	6	12	11	2	1	1	1	0	1	1	3	4	1	3	0	3	3	3	0	3	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:169697064C>T	ENST00000333360.7	-	9	1423	c.1284G>A	c.(1282-1284)gtG>gtA	p.V428V	SELE_ENST00000367779.4_Intron|SELE_ENST00000367776.1_Silent_p.V365V|SELE_ENST00000367782.4_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367777.1_Intron|SELE_ENST00000367780.4_Silent_p.V303V|SELE_ENST00000367775.1_Silent_p.V303V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Silent_p.V365V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	428					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CATCGCATCTCACAGCTGGAA	0.488													20	45					0	0	0	0	T	169697064	C	T	169697064	2	4	328	1	0	0	0	0	0	0	0	1	14100	813	29	2		2	SELE	1	169697064	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	427	169697064	79553557	212	58426											
SELE	6401	broad.mit.edu	37	chr1	169701074	169701074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccactgcaggatgtattgGtacaggcagctacggaaaat	12	8	13	8	1	0	0	0	0	0	0	0	2	0	2	1	5	4	5	1	5	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:169701074G>A	ENST00000333360.7	-	4	570	c.431C>T	c.(430-432)aCc>aTc	p.T144I	SELE_ENST00000367779.4_Missense_Mutation_p.T144I|SELE_ENST00000367776.1_Missense_Mutation_p.T144I|SELE_ENST00000367782.4_Missense_Mutation_p.T144I|SELE_ENST00000367774.1_Missense_Mutation_p.T144I|SELE_ENST00000367777.1_Missense_Mutation_p.T144I|SELE_ENST00000367780.4_Missense_Mutation_p.T144I|SELE_ENST00000367775.1_Missense_Mutation_p.T144I|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000461085.1_5'UTR|SELE_ENST00000367781.4_Missense_Mutation_p.T144I	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	144	EGF-like.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GGATGTATTGGTACAGGCAGC	0.443													14	20					0	0	0	0	A	169701074	G	A	169701074	3	1	328	1	0	0	0	0	1	0	0	0	14100	1261	44	4	1441	4	SELE	1	169701074	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4010	169701074	79549547	213	58427											
CACYBP	27101	broad.mit.edu	37	chr1	174973897	174973897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagaagaaagcagaacttCttgataatgaaaaaccagct	19	7	7	8	0	1	5	0	2	1	3	1	5	1	5	1	0	4	2	1	0	6	3	rs11548912		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:174973897C>T	ENST00000367681.2	+	2	674	c.34C>T	c.(34-36)Ctt>Ttt	p.L12F	CACYBP_ENST00000367679.2_Missense_Mutation_p.L55F|CACYBP_ENST00000405362.1_Missense_Mutation_p.L12F|CACYBP_ENST00000406752.1_Missense_Mutation_p.L55F	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	55	Interaction with SIAH1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AGCAGAACTTCTTGATAATGA	0.403													27	32					0	0	0	0	T	174973897	C	T	174973897	3	4	328	1	0	0	0	0	1	0	0	0	2589	913	32	2	169	2	CACYBP	1	174973897	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5272823	174973897	74276724	214	58428											
ZNF648	127665	broad.mit.edu	37	chr1	182026190	182026190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtgcttccggtggtcggagGaccaggtgtaggccttgtcg	4	11	17	9	3	0	0	0	0	0	0	3	2	1	2	3	6	1	2	3	6	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:182026190G>C	ENST00000339948.3	-	2	1163	c.956C>G	c.(955-957)tCc>tGc	p.S319C		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GTGGTCGGAGGACCAGGTGTA	0.657													5	25					0	0	0	0	C	182026190	G	C	182026190	3	2	328	1	0	0	0	0	1	0	0	0	18158	1174	41	2	754	2	ZNF648	1	182026190	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7052293	182026190	67224431	215	58429											
LAMC1	3915	broad.mit.edu	37	chr1	183072553	183072553	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagcgcacacgggaagacgGgccctggattccttaccagt	10	6	12	13	3	0	1	0	0	0	1	1	3	1	3	3	3	2	1	3	3	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:183072553G>C	ENST00000258341.4	+	2	766	c.509G>C	c.(508-510)gGg>gCg	p.G170A		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	170	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGGAAGACGGGCCCTGGATT	0.562													38	54					0	0	0	0	C	183072553	G	C	183072553	3	2	328	1	0	0	0	0	1	0	0	0	8667	1232	43	4	515	4	LAMC1	1	183072553	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1046363	183072553	66178068	216	58430											
SMG7	9887	broad.mit.edu	37	chr1	183515292	183515292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgaagccttttcccatGgagccatataaccataatcc	15	10	5	11	0	0	1	0	1	0	0	2	2	2	2	5	1	3	0	5	1	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:183515292G>A	ENST00000367537.3	+	18	2706	c.2511G>A	c.(2509-2511)atG>atA	p.M837I	SMG7_ENST00000508461.1_Missense_Mutation_p.M812I|SMG7_ENST00000456731.2_Missense_Mutation_p.M766I|SMG7_ENST00000507469.1_Missense_Mutation_p.M808I|SMG7_ENST00000347615.2_Missense_Mutation_p.M854I|SMG7_ENST00000515829.2_Missense_Mutation_p.M808I			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	854	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CTTTTCCCATGGAGCCATATA	0.453													17	68					0	0	0	0	A	183515292	G	A	183515292	3	1	328	1	0	0	0	0	1	0	0	0	14886	1348	47	4	2628	4	SMG7	1	183515292	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	442739	183515292	65735329	217	58431											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185278582	185278582	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttggcaacagaagactcaAtaaaattttcatcctcaaac	17	11	4	9	0	3	2	3	0	0	2	4	2	4	2	1	1	2	1	1	1	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:185278582A>G	ENST00000367498.3	-	3	666	c.44T>C	c.(43-45)aTt>aCt	p.I15T	IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.I15T|IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	15					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AGAAGACTCAATAAAATTTTC	0.308													24	35					0	0	0	0	G	185278582	A	G	185278582	3	3	328	1	0	0	0	0	1	0	0	0	7983	101	4	5	1936	5	IVNS1ABP	1	185278582	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	1763290	185278582	63972039	218	58432											
HMCN1	83872	broad.mit.edu	37	chr1	186022089	186022089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttatttttttctagtccccCcaaatattggtggttctgat	7	20	6	8	0	2	1	0	1	2	0	3	1	3	1	3	2	0	1	3	2	4	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:186022089C>T	ENST00000271588.4	+	43	6812	c.6583C>T	c.(6583-6585)Cca>Tca	p.P2195S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2195S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2195	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCTAGTCCCCCCAAATATTGG	0.338													7	43					0	0	0	0	T	186022089	C	T	186022089	3	4	328	1	0	0	0	0	1	0	0	0	7270	623	22	4	6753	4	HMCN1	1	186022089	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	743507	186022089	63228532	219	58433											
HMCN1	83872	broad.mit.edu	37	chr1	186084396	186084396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacattgtcttagttcctcCatctattgctccgggtccta	6	16	7	12	1	2	1	0	1	2	0	6	1	6	1	4	1	1	2	4	1	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:186084396C>T	ENST00000271588.4	+	75	11640	c.11411C>T	c.(11410-11412)cCa>cTa	p.P3804L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P3804L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3804	Ig-like C2-type 37.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTAGTTCCTCCATCTATTGCT	0.388													24	85					0	0	0	0	T	186084396	C	T	186084396	3	4	328	1	0	0	0	0	1	0	0	0	7270	594	21	4	11709	4	HMCN1	1	186084396	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	62307	186084396	63166225	220	58434											
HMCN1	83872	broad.mit.edu	37	chr1	186088430	186088430	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtgacccttcatgttcatGgtatggaaggctatttactc	9	14	9	9	1	2	1	2	1	0	0	3	2	2	2	1	3	1	3	1	3	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:186088430G>A	ENST00000271588.4	+	78	12185	c.11956_splice	c.e78+1	p.E3986_splice	HMCN1_ENST00000367492.2_Splice_Site_p.E3986_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3986					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATGTTCATGGTATGGAAGG	0.443													37	40					0	0	0	0	A	186088430	G	A	186088430	5	1	328	1	0	0	0	0	0	0	1	0	7270	1362	47	4	12266	4	HMCN1	1	186088430	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4034	186088430	63162191	221	58435											
CFHR4	10877	broad.mit.edu	37	chr1	196876487	196876487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccacctattagcaatGgagataccacgtccttcccg	9	10	6	16	2	0	1	0	0	0	1	4	2	4	1	6	1	2	1	6	1	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:196876487G>A	ENST00000367416.2	+	5	792	c.655G>A	c.(655-657)Gga>Aga	p.G219R	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TATTAGCAATGGAGATACCAC	0.403													8	46					0	0	0	0	A	196876487	G	A	196876487	3	1	328	1	0	0	0	0	1	0	0	0	3316	1363	47	4		4	CFHR4	1	196876487	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	10788057	196876487	52374134	222	58436											
CFHR5	81494	broad.mit.edu	37	chr1	196977705	196977705	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaactctatgcaaaaacaggGgatgctgttgaattccagtg	14	10	10	7	0	1	1	0	1	1	0	2	2	2	2	1	2	4	3	1	2	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:196977705G>A	ENST00000367414.5	+	10	1730	c.1674G>A	c.(1672-1674)ggG>ggA	p.G558G	CFHR5_ENST00000256785.4_Silent_p.G534G	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	534	Sushi 9.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CAAAAACAGGGGATGCTGTTG	0.358													31	25					0	0	0	0	A	196977705	G	A	196977705	2	1	328	1	0	0	0	0	0	0	0	1	3317	1219	43	4		4	CFHR5	1	196977705	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	101218	196977705	52272916	223	58437											
F13B	2165	broad.mit.edu	37	chr1	197026303	197026303	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaatgaagggtggttcCtcacaggctaccttctcctg	7	14	9	11	0	3	1	2	1	1	0	5	1	4	1	3	3	1	2	3	3	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:197026303C>T	ENST00000367412.1	-	7	1054	c.1011G>A	c.(1009-1011)gaG>gaA	p.E337E		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	337	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AGGGTGGTTCCTCACAGGCTA	0.398													23	25					0	0	0	0	T	197026303	C	T	197026303	2	4	328	1	0	0	0	0	0	0	0	1	5379	680	24	4		4	F13B	1	197026303	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	48598	197026303	52224318	224	58438											
ASPM	259266	broad.mit.edu	37	chr1	197072675	197072675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaaagcagactgaatcttCaaggcagcttgatgttccct	12	11	8	10	0	2	3	1	2	1	1	3	3	3	3	1	1	2	4	1	1	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:197072675C>T	ENST00000367409.4	-	18	5962	c.5706G>A	c.(5704-5706)ttG>ttA	p.L1902L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1902	IQ 10.|IQ 11.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTGAATCTTCAAGGCAGCTT	0.433													39	32					0	0	0	0	T	197072675	C	T	197072675	2	4	328	1	0	0	0	0	0	0	0	1	1060	825	29	2		2	ASPM	1	197072675	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	46372	197072675	52177946	225	58439											
KIF21B	23046	broad.mit.edu	37	chr1	200969700	200969700	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtgagaggctgcggcgcagGgactcgttcatggcttcact	6	9	15	11	4	2	1	2	1	0	1	3	3	2	2	0	4	1	4	0	4	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:200969700G>A	ENST00000332129.2	-	11	1819	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	KIF21B_ENST00000422435.2_Silent_p.S501S|KIF21B_ENST00000461742.2_Silent_p.S501S|KIF21B_ENST00000360529.5_Silent_p.S501S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	501					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGCGGCGCAGGGACTCGTTCA	0.672													11	27					0	0	0	0	A	200969700	G	A	200969700	2	1	328	1	0	0	0	0	0	0	0	1	8340	1219	43	4		4	KIF21B	1	200969700	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3897025	200969700	48280921	226	58440											
CACNA1S	779	broad.mit.edu	37	chr1	201021714	201021714	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtagcacagcttgtgggaaGgtctggaagttgttgttccg	8	12	15	6	1	1	0	0	0	1	0	2	2	2	2	1	3	2	6	1	3	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:201021714G>A	ENST00000362061.3	-	32	4150	c.3924C>T	c.(3922-3924)acC>acT	p.T1308T	CACNA1S_ENST00000367338.3_Silent_p.T1289T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1308					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTTGTGGGAAGGTCTGGAAGT	0.557													41	53					0	0	0	0	A	201021714	G	A	201021714	2	1	328	1	0	0	0	0	0	0	0	1	2572	987	35	4		4	CACNA1S	1	201021714	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	52014	201021714	48228907	227	58441											
CACNA1S	779	broad.mit.edu	37	chr1	201041907	201041907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagtcggctgaggggtaggGatccttcacctcattgacat	9	10	13	9	1	2	2	2	2	0	0	4	4	3	3	2	4	0	2	2	4	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:201041907G>A	ENST00000362061.3	-	16	2429	c.2203C>T	c.(2203-2205)Ccc>Tcc	p.P735S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P735S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	735					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAGGGGTAGGGATCCTTCACC	0.502													26	76					0	0	0	0	A	201041907	G	A	201041907	3	1	328	1	0	0	0	0	1	0	0	0	2572	1174	41	2	3534	2	CACNA1S	1	201041907	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	20193	201041907	48208714	228	58442											
LGR6	59352	broad.mit.edu	37	chr1	202270008	202270008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaacaacatcaaggccatcCcagaaaaggccttcatgggg	15	5	9	12	0	2	1	2	0	0	1	3	1	3	1	3	4	2	0	3	4	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:202270008C>T	ENST00000367278.3	+	8	906	c.817C>T	c.(817-819)Cca>Tca	p.P273S	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Missense_Mutation_p.P134S|LGR6_ENST00000255432.7_Missense_Mutation_p.P221S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	273						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CAAGGCCATCCCAGAAAAGGC	0.498													44	62					0	0	0	0	T	202270008	C	T	202270008	3	4	328	1	0	0	0	0	1	0	0	0	8812	623	22	4	994	4	LGR6	1	202270008	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1228101	202270008	46980613	229	58443											
CHIT1	1118	broad.mit.edu	37	chr1	203194943	203194943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgggcaggaagcgagcctcCccctgtctgtactgggccca	6	8	13	14	1	1	0	0	0	1	0	2	2	2	1	4	3	3	2	4	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:203194943C>T	ENST00000367229.1	-	3	145	c.111G>A	c.(109-111)ggG>ggA	p.G37G	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.G37G|CHIT1_ENST00000535569.1_Silent_p.G47G	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	37					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						AGCGAGCCTCCCCCTGTCTGT	0.582													15	21					0	0	0	0	T	203194943	C	T	203194943	2	4	328	1	0	0	0	0	0	0	0	1	3375	610	22	4		4	CHIT1	1	203194943	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	924935	203194943	46055678	230	58444											
FMOD	2331	broad.mit.edu	37	chr1	203317164	203317164	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgggtgggcagtcgcactCctgggggcagtcgcggggat	4	8	20	9	3	0	0	0	0	0	0	3	1	1	1	1	6	0	4	1	6	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:203317164C>A	ENST00000354955.4	-	2	698	c.235G>T	c.(235-237)Gag>Tag	p.E79*	FMOD_ENST00000464898.1_Splice_Site	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	79	Cys-rich.|LRRNT.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGTCGCACTCCTGGGGGCAG	0.597													11	9					6.40141e-05	6.42256e-05	1	0	A	203317164	C	A	203317164	4	1	328	1	0	0	0	0	0	1	0	0	6004	864	30	2	903	2	FMOD	1	203317164	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	122221	203317164	45933457	231	58445											
FMOD	2331	broad.mit.edu	37	chr1	203317338	203317338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaccaatgagggtcatcttCatactgggcctgggagaggg	9	8	14	10	0	3	2	2	1	1	1	3	3	3	2	3	4	1	0	3	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:203317338C>T	ENST00000354955.4	-	2	524	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	21					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGGTCATCTTCATACTGGGCC	0.572													26	37					0	0	0	0	T	203317338	C	T	203317338	3	4	328	1	0	0	0	0	1	0	0	0	6004	835	29	2	1077	2	FMOD	1	203317338	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	174	203317338	45933283	232	58446											
SOX13	9580	broad.mit.edu	37	chr1	204091058	204091058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcagctgctgcacagccCccctgccccagtggtgaaga	7	6	12	16	0	0	2	0	1	0	1	0	2	0	2	5	1	6	5	5	1	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:204091058C>T	ENST00000367204.1	+	8	915	c.806C>T	c.(805-807)cCc>cTc	p.P269L		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	269	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGCACAGCCCCCCTGCCCCA	0.622													12	14					0	0	0	0	T	204091058	C	T	204091058	3	4	328	1	0	0	0	0	1	0	0	0	15032	623	22	4	832	4	SOX13	1	204091058	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	773720	204091058	45159563	233	58447											
PLEKHA6	22874	broad.mit.edu	37	chr1	204237425	204237425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaggcgacggctttgcGggctgtgcgagttgcctggg	5	8	18	10	4	0	0	0	0	0	0	0	2	0	0	2	4	3	3	2	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:204237425G>A	ENST00000272203.3	-	4	434	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R40C	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	40										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			ACGGCTTTGCGGGCTGTGCGA	0.607													7	18					0	0	0	0	A	204237425	G	A	204237425	3	1	328	1	0	0	0	0	1	0	0	0	12132	1116	39	1	3104	1	PLEKHA6	1	204237425	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	146367	204237425	45013196	234	58448											
NFASC	23114	broad.mit.edu	37	chr1	204937395	204937395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcccgaggagttgcagaaaGaacaccaagcttcatgtatc	14	7	10	10	1	1	2	1	0	0	2	2	4	1	3	2	1	4	4	2	1	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:204937395G>A	ENST00000367172.4	+	9	1053	c.725G>A	c.(724-726)aGa>aAa	p.R242K	NFASC_ENST00000403080.1_Missense_Mutation_p.R242K|NFASC_ENST00000404907.1_Missense_Mutation_p.R253K|NFASC_ENST00000404076.1_Missense_Mutation_p.R236K|NFASC_ENST00000513543.1_Missense_Mutation_p.R253K|NFASC_ENST00000367171.4_Missense_Mutation_p.R242K|NFASC_ENST00000360049.4_Missense_Mutation_p.R253K|NFASC_ENST00000338586.6_Missense_Mutation_p.R242K|NFASC_ENST00000367170.4_Missense_Mutation_p.R242K|NFASC_ENST00000367169.4_Missense_Mutation_p.R242K|NFASC_ENST00000339876.6_Missense_Mutation_p.R242K|NFASC_ENST00000338515.6_Missense_Mutation_p.R242K|NFASC_ENST00000539706.1_Missense_Mutation_p.R253K|NFASC_ENST00000401399.1_Missense_Mutation_p.R242K			O94856	NFASC_HUMAN	neurofascin	242					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTTGCAGAAAGAACACCAAGC	0.577													19	51					0	0	0	0	A	204937395	G	A	204937395	3	1	328	1	0	0	0	0	1	0	0	0	10429	942	33	2	806	2	NFASC	1	204937395	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	699970	204937395	44313226	235	58449											
RBBP5	5929	broad.mit.edu	37	chr1	205069074	205069074	+	Missense_Mutation	SNP	G	G	A																															gagttctcctctcgtcccatGgagaatcttcaccaggttgc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:205069074G>A	ENST00000264515.6	-	8	1012	c.871C>T	c.(871-873)Cat>Tat	p.H291Y	RBBP5_ENST00000367164.1_Missense_Mutation_p.H291Y	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	291					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTCGTCCCATGGAGAATCTTC	0.458													37	110					0	0	0	0	A	205069074	G	A	205069074	3	1	328	1	0	0	0	0	1	0	0	0	13184	1348	47	4	773	4	RBBP5	1	205069074	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	131679	205069074	44181547	236	58450	492	2									
RBBP5	5929	broad.mit.edu	37	chr1	205069075	205069075	+	Silent	SNP	G	G	A																															agttctcctctcgtcccatgGagaatcttcaccaggttgcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:205069075G>A	ENST00000264515.6	-	8	1011	c.870C>T	c.(868-870)ctC>ctT	p.L290L	RBBP5_ENST00000367164.1_Silent_p.L290L	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	290					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TCGTCCCATGGAGAATCTTCA	0.463													37	110					0	0	0	0	A	205069075	G	A	205069075	2	1	328	1	0	0	0	0	0	0	0	1	13184	1161	41	2		2	RBBP5	1	205069075	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	205069075	44181546	237	58451	492	2									
TMCC2	9911	broad.mit.edu	37	chr1	205238548	205238548	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcggcgtggtggagggcgtCaagggcagcctctctggcct	4	7	19	11	3	2	0	1	0	1	0	3	1	2	1	2	7	1	1	2	7	1	0	rs138392378	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:205238548C>T	ENST00000358024.3	+	3	1607	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.V181V|TMCC2_ENST00000329800.7_Silent_p.V166V|TMCC2_ENST00000545499.1_Silent_p.V328V	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	406						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGGAGGGCGTCAAGGGCAGCC	0.677													26	37					0	0	0	0	T	205238548	C	T	205238548	2	4	328	1	0	0	0	0	0	0	0	1	16087	813	29	2		2	TMCC2	1	205238548	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	169473	205238548	44012073	238	58452											
AVPR1B	553	broad.mit.edu	37	chr1	206224958	206224958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctcaagtcttcattttttCcctgcgggaggtgatccagg	6	13	10	12	1	3	1	2	1	1	0	5	2	5	2	3	3	1	0	3	3	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:206224958C>T	ENST00000367126.4	+	1	983	c.518C>T	c.(517-519)tCc>tTc	p.S173F		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	173					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTCATTTTTTCCCTGCGGGAG	0.652													20	34					0	0	0	0	T	206224958	C	T	206224958	3	4	328	1	0	0	0	0	1	0	0	0	1236	855	30	2	520	2	AVPR1B	1	206224958	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	986410	206224958	43025663	239	58453											
CR1	1378	broad.mit.edu	37	chr1	207753920	207753920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgctatttccacttaatctCcagcttggggcaaaggtgtc	8	13	10	10	0	1	0	0	0	1	0	4	0	2	0	2	3	2	3	2	3	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:207753920C>T	ENST00000367049.4	+	31	5178	c.5178C>T	c.(5176-5178)ctC>ctT	p.L1726L	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Silent_p.L1276L|CR1_ENST00000367051.1_Silent_p.L1276L|CR1_ENST00000367052.1_Silent_p.L1276L|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Silent_p.L1276L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1276	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACTTAATCTCCAGCTTGGGG	0.433													127	47					0	0	0	0	T	207753920	C	T	207753920	2	4	328	1	0	0	0	0	0	0	0	1	3870	842	30	2		2	CR1	1	207753920	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1528962	207753920	41496701	240	58454											
PLXNA2	5362	broad.mit.edu	37	chr1	208315720	208315720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgctgatcaatggagaagGccatgtcccggaggatgggg	10	6	17	8	2	1	2	1	1	0	1	2	5	2	4	2	6	1	1	2	6	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:208315720G>A	ENST00000367033.3	-	4	2217	c.1460C>T	c.(1459-1461)gCc>gTc	p.A487V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	487	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AATGGAGAAGGCCATGTCCCG	0.532													67	15					0	0	0	0	A	208315720	G	A	208315720	3	1	328	1	0	0	0	0	1	0	0	0	12192	1203	42	4	4340	4	PLXNA2	1	208315720	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	561800	208315720	40934901	241	58455											
LAMB3	3914	broad.mit.edu	37	chr1	209791281	209791281	+	Missense_Mutation	SNP	G	G	A																															cctgtcctggataagccgaaGggagcggctggtgccttgca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:209791281G>A	ENST00000391911.1	-	19	3411	c.3022C>T	c.(3022-3024)Ctt>Ttt	p.L1008F	LAMB3_ENST00000367030.3_Missense_Mutation_p.L1008F|LAMB3_ENST00000356082.4_Missense_Mutation_p.L1008F	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1008	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATAAGCCGAAGGGAGCGGCTG	0.567													19	52					0	0	0	0	A	209791281	G	A	209791281	3	1	328	1	0	0	0	0	1	0	0	0	8665	1000	35	4	512	4	LAMB3	1	209791281	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1475561	209791281	39459340	242	58456	493	2									
LAMB3	3914	broad.mit.edu	37	chr1	209791282	209791282	+	Silent	SNP	G	G	A																															ctgtcctggataagccgaagGgagcggctggtgccttgcat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:209791282G>A	ENST00000391911.1	-	19	3410	c.3021C>T	c.(3019-3021)tcC>tcT	p.S1007S	LAMB3_ENST00000367030.3_Silent_p.S1007S|LAMB3_ENST00000356082.4_Silent_p.S1007S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1007	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TAAGCCGAAGGGAGCGGCTGG	0.567													19	53					0	0	0	0	A	209791282	G	A	209791282	2	1	328	1	0	0	0	0	0	0	0	1	8665	1219	43	4		4	LAMB3	1	209791282	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	209791282	39459339	243	58457	493	2									
ESRRG	2104	broad.mit.edu	37	chr1	216850733	216850733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggctgtggtggttgaCgctgtccgtcagggaggctg	5	9	18	9	2	1	1	1	1	0	0	2	2	2	2	2	5	0	4	2	5	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:216850733C>T	ENST00000391890.3	-	4	605	c.88G>A	c.(88-90)Gtc>Atc	p.V30I	ESRRG_ENST00000487276.1_Missense_Mutation_p.V30I|ESRRG_ENST00000360012.3_Missense_Mutation_p.V30I|ESRRG_ENST00000366940.2_Missense_Mutation_p.V30I|ESRRG_ENST00000359162.2_Missense_Mutation_p.V30I|ESRRG_ENST00000408911.3_Missense_Mutation_p.V53I|ESRRG_ENST00000366938.2_Missense_Mutation_p.V30I|ESRRG_ENST00000463665.1_Missense_Mutation_p.V30I|ESRRG_ENST00000361395.2_Missense_Mutation_p.V30I|ESRRG_ENST00000361525.3_Missense_Mutation_p.V30I|ESRRG_ENST00000493748.1_Missense_Mutation_p.V30I|ESRRG_ENST00000366937.1_Missense_Mutation_p.V58I|ESRRG_ENST00000493603.1_Missense_Mutation_p.V30I	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	53					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGGTGGTTGACGCTGTCCGTC	0.547													4	56					0	0	0	0	T	216850733	C	T	216850733	3	4	328	1	0	0	0	0	1	0	0	0	5300	536	19	1	1243	1	ESRRG	1	216850733	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7059451	216850733	32399888	244	58458											
SLC30A10	55532	broad.mit.edu	37	chr1	220089093	220089093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccaggggttccttcaagtCcacattttcaaactggatgg	9	12	9	11	0	2	0	2	0	0	0	5	1	5	1	3	4	1	1	3	4	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:220089093C>T	ENST00000366926.3	-	4	1317	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	SLC30A10_ENST00000536446.1_Missense_Mutation_p.D141N|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	386					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TCCTTCAAGTCCACATTTTCA	0.512													24	43					0	0	0	0	T	220089093	C	T	220089093	3	4	328	1	0	0	0	0	1	0	0	0	14642	855	30	2	305	2	SLC30A10	1	220089093	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3238360	220089093	29161528	245	58459											
DISP1	84976	broad.mit.edu	37	chr1	223179117	223179117	+	Missense_Mutation	SNP	C	C	T																															aacatttcaatcagaatgaaCcaaaagtcctatttaatcat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:223179117C>T	ENST00000284476.6	+	8	4542	c.4378C>T	c.(4378-4380)Cca>Tca	p.P1460S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1460					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCAGAATGAACCAAAAGTCCT	0.443													32	16					0	0	0	0	T	223179117	C	T	223179117	3	4	328	1	0	0	0	0	1	0	0	0	4576	507	18	4	4404	4	DISP1	1	223179117	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3090024	223179117	26071504	246	58460	494	2									
DISP1	84976	broad.mit.edu	37	chr1	223179118	223179118	+	Missense_Mutation	SNP	C	C	T																															acatttcaatcagaatgaacCaaaagtcctatttaatcatt																								rs35640001		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:223179118C>T	ENST00000284476.6	+	8	4543	c.4379C>T	c.(4378-4380)cCa>cTa	p.P1460L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1460					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CAGAATGAACCAAAAGTCCTA	0.438													32	16					0	0	0	0	T	223179118	C	T	223179118	3	4	328	1	0	0	0	0	1	0	0	0	4576	594	21	4	4405	4	DISP1	1	223179118	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	223179118	26071503	247	58461	494	2									
ZNF678	339500	broad.mit.edu	37	chr1	227842474	227842474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taactaaccataagaaaattCatactggagagaaaccctac	19	8	5	9	0	1	2	1	0	0	2	1	4	1	3	2	1	5	0	2	1	8	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:227842474C>T	ENST00000343776.4	+	4	868	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	ZNF678_ENST00000397097.3_Missense_Mutation_p.H230Y|ZNF678_ENST00000498759.1_Intron			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	230					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TAAGAAAATTCATACTGGAGA	0.343													24	67					0	0	0	0	T	227842474	C	T	227842474	3	4	328	1	0	0	0	0	1	0	0	0	18180	826	29	2	702	2	ZNF678	1	227842474	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4663356	227842474	21408147	248	58462											
OBSCN	84033	broad.mit.edu	37	chr1	228548409	228548409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgggggagacggtcaccCttcacatctgcccagacagg	9	6	13	13	1	3	2	2	0	1	2	3	3	3	2	2	4	1	0	2	4	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:228548409C>T	ENST00000284548.11	+	81	19890	c.19816C>T	c.(19816-19818)Ctt>Ttt	p.L6606F	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.L3725F|OBSCN_ENST00000366707.4_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACGGTCACCCTTCACATCTG	0.637													14	5					0	0	0	0	T	228548409	C	T	228548409	3	4	328	1	0	0	0	0	1	0	0	0	10883	681	24	4	20134	4	OBSCN	1	228548409	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	705935	228548409	20702212	249	58463											
OBSCN	84033	broad.mit.edu	37	chr1	228553779	228553779	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccctgccctcccagggccCccatccatgcaggtaaccat	7	7	7	20	0	0	0	0	0	0	0	3	0	3	0	7	2	3	2	7	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:228553779C>T	ENST00000570156.2	+	94	22013	c.21939C>T	c.(21937-21939)ccC>ccT	p.P7313P	OBSCN_ENST00000422127.1_Silent_p.P6356P|OBSCN_ENST00000366707.4_Silent_p.P3990P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6356					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCAGGGCCCCCATCCATGC	0.627													24	18					0	0	0	0	T	228553779	C	T	228553779	2	4	328	1	0	0	0	0	0	0	0	1	10883	610	22	4		4	OBSCN	1	228553779	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5370	228553779	20696842	250	58464											
OBSCN	84033	broad.mit.edu	37	chr1	228559547	228559547	+	Missense_Mutation	SNP	C	C	T																															tgctcagccagagaggccatCcccggacagcccttgggggc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:228559547C>T	ENST00000570156.2	+	105	24013	c.23939C>T	c.(23938-23940)tCc>tTc	p.S7980F	OBSCN_ENST00000422127.1_Missense_Mutation_p.S7023F|OBSCN_ENST00000366707.4_Missense_Mutation_p.S4657F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7023					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGAGGCCATCCCCGGACAGC	0.697													31	8					0	0	0	0	T	228559547	C	T	228559547	3	4	328	1	0	0	0	0	1	0	0	0	10883	855	30	2	22648	2	OBSCN	1	228559547	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5768	228559547	20691074	251	58465	495	2									
OBSCN	84033	broad.mit.edu	37	chr1	228559548	228559548	+	Silent	SNP	C	C	T																															gctcagccagagaggccatcCccggacagcccttgggggca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:228559548C>T	ENST00000570156.2	+	105	24014	c.23940C>T	c.(23938-23940)tcC>tcT	p.S7980S	OBSCN_ENST00000422127.1_Silent_p.S7023S|OBSCN_ENST00000366707.4_Silent_p.S4657S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7023					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGGCCATCCCCGGACAGCC	0.701													31	8					0	0	0	0	T	228559548	C	T	228559548	2	4	328	1	0	0	0	0	0	0	0	1	10883	610	22	4		4	OBSCN	1	228559548	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	228559548	20691073	252	58466	495	2									
URB2	9816	broad.mit.edu	37	chr1	229772433	229772433	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actttaatgcaaactagtttCcggtctgaaggagccatcca	12	11	8	10	1	1	1	0	1	1	0	3	2	3	2	3	2	3	2	3	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:229772433C>T	ENST00000258243.2	+	4	2209	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	691						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AAACTAGTTTCCGGTCTGAAG	0.438													113	38					0	0	0	0	T	229772433	C	T	229772433	2	4	328	1	0	0	0	0	0	0	0	1	17121	854	30	2		2	URB2	1	229772433	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1212885	229772433	19478188	253	58467											
PGBD5	79605	broad.mit.edu	37	chr1	230513310	230513310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaactgcagctcaggtcCtgcagagtccccgagagtac	10	6	12	13	1	1	2	1	0	0	2	3	4	3	2	3	1	6	5	3	1	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:230513310C>T	ENST00000321327.2	-	1	57	c.58G>A	c.(58-60)Gga>Aga	p.G20R	PGBD5_ENST00000525115.1_Missense_Mutation_p.G20R|PGBD5_ENST00000391860.1_Intron			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	20						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGCTCAGGTCCTGCAGAGTCC	0.547													6	9					0	0	0	0	T	230513310	C	T	230513310	3	4	328	1	0	0	0	0	1	0	0	0	11856	690	24	4	1337	4	PGBD5	1	230513310	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	740877	230513310	18737311	254	58468											
AGT	183	broad.mit.edu	37	chr1	230838923	230838923	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggttggccacgcggcccagGaagtgcagggcagtggcgct	6	5	19	11	3	0	0	0	0	0	0	0	1	0	1	2	6	1	4	2	6	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:230838923G>A	ENST00000366667.4	-	5	1636	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	474					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CGCGGCCCAGGAAGTGCAGGG	0.607													31	30					0	0	0	0	A	230838923	G	A	230838923	2	1	328	1	0	0	0	0	0	0	0	1	399	1165	41	2		2	AGT	1	230838923	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	325613	230838923	18411698	255	58469											
TRIM67	440730	broad.mit.edu	37	chr1	231344869	231344869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtacgacaaccacccagacCccgccttcggggtggccagg	8	4	13	16	3	0	1	0	0	0	1	1	2	0	1	6	5	2	1	6	5	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:231344869C>T	ENST00000444294.3	+	8	2848	c.1990C>T	c.(1990-1992)Ccc>Tcc	p.P664S	TRIM67_ENST00000366652.2_Missense_Mutation_p.P666S|TRIM67_ENST00000366653.5_Missense_Mutation_p.P666S|TRIM67_ENST00000449018.3_Missense_Mutation_p.P604S	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	666	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding	p.P666T(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCACCCAGACCCCGCCTTCGG	0.632													62	25					0	0	0	0	T	231344869	C	T	231344869	3	4	328	1	0	0	0	0	1	0	0	0	16635	623	22	4	2026	4	TRIM67	1	231344869	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	505946	231344869	17905752	256	58470											
SIPA1L2	57568	broad.mit.edu	37	chr1	232601075	232601075	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actttggctaaaaggaagtcCcggaacacggctgactttgg	11	9	12	9	2	0	1	0	1	0	0	1	3	1	3	1	5	1	2	1	5	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:232601075C>A	ENST00000366630.1	-	8	2689	c.2331G>T	c.(2329-2331)cgG>cgT	p.R777R	SIPA1L2_ENST00000262861.4_Silent_p.R777R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	777	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAAGGAAGTCCCGGAACACGG	0.453													77	25					5.82419e-33	5.95976e-33	1	0	A	232601075	C	A	232601075	2	1	328	1	0	0	0	0	0	0	0	1	14418	610	22	4		4	SIPA1L2	1	232601075	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1256206	232601075	16649546	257	58471											
KCNK1	3775	broad.mit.edu	37	chr1	233807018	233807018	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcctgtttctcacacaggTtacctgctacttggccttat	6	16	7	12	0	1	0	1	0	1	0	3	0	2	0	3	2	3	3	3	2	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:233807018T>C	ENST00000366621.3	+	3	921	c.751_splice	c.e3-1	p.C251_splice	KCNK1_ENST00000366620.1_Splice_Site_p.C135_splice|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	251						voltage-gated potassium channel complex	inward rectifier potassium channel activity			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)	CTCACACAGGTTACCTGCTAC	0.423													22	68					0	0	0	0	C	233807018	T	C	233807018	5	2	328	1	0	0	0	0	0	0	1	0	8111	1739	60	5	763	5	KCNK1	1	233807018	Splice_Site	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1205943	233807018	15443603	258	58472											
TARBP1	6894	broad.mit.edu	37	chr1	234529521	234529521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaaacacgactgttccacgGgataatcttcttctgaacgt	11	11	9	10	3	3	1	0	1	3	0	4	4	4	3	1	2	2	1	1	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:234529521G>A	ENST00000040877.1	-	27	4305	c.4306C>T	c.(4306-4308)Ccg>Tcg	p.P1436S	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1436					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTGTTCCACGGGATAATCTTC	0.458													29	39					0	0	0	0	A	234529521	G	A	234529521	3	1	328	1	0	0	0	0	1	0	0	0	15646	1232	43	4	575	4	TARBP1	1	234529521	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	722503	234529521	14721100	259	58473											
TARBP1	6894	broad.mit.edu	37	chr1	234586268	234586268	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaatggagctacacgtaggGgatggcttaaaatagctttc	12	10	11	8	1	0	0	0	0	0	0	1	2	0	2	1	4	3	4	1	4	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:234586268G>A	ENST00000040877.1	-	10	1766	c.1767C>T	c.(1765-1767)tcC>tcT	p.S589S		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	589					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TACACGTAGGGGATGGCTTAA	0.353													17	31					0	0	0	0	A	234586268	G	A	234586268	2	1	328	1	0	0	0	0	0	0	0	1	15646	1219	43	4		4	TARBP1	1	234586268	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	56747	234586268	14664353	260	58474											
RYR2	6262	broad.mit.edu	37	chr1	237666759	237666759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgctgggccccacagtttCcctgacgcaagctgccttca	6	9	9	17	1	1	1	1	1	0	0	2	1	2	1	5	1	3	4	5	1	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237666759C>T	ENST00000366574.2	+	22	2884	c.2567C>T	c.(2566-2568)tCc>tTc	p.S856F	RYR2_ENST00000542537.1_Missense_Mutation_p.S840F|RYR2_ENST00000360064.6_Missense_Mutation_p.S854F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	856	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCCACAGTTTCCCTGACGCAA	0.502													50	22					0	0	0	0	T	237666759	C	T	237666759	3	4	328	1	0	0	0	0	1	0	0	0	13854	855	30	2	2653	2	RYR2	1	237666759	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3080491	237666759	11583862	261	58475											
RYR2	6262	broad.mit.edu	37	chr1	237730043	237730043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggatcaggagcttggctcaGatgaacgtgcctttgccttt	7	12	12	10	2	2	2	2	1	0	1	2	4	2	4	2	3	4	2	2	3	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237730043G>A	ENST00000366574.2	+	28	3708	c.3391G>A	c.(3391-3393)Gat>Aat	p.D1131N	RYR2_ENST00000542537.1_Missense_Mutation_p.D1115N|RYR2_ENST00000360064.6_Missense_Mutation_p.D1129N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1131	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTTGGCTCAGATGAACGTGC	0.537													131	30					0	0	0	0	A	237730043	G	A	237730043	3	1	328	1	0	0	0	0	1	0	0	0	13854	942	33	2	3501	2	RYR2	1	237730043	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	63284	237730043	11520578	262	58476											
RYR2	6262	broad.mit.edu	37	chr1	237777985	237777985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagcccagtgtgtttaaaGaagctgccactccggaggag	10	9	13	9	1	0	2	0	1	0	1	1	4	1	4	3	2	3	2	3	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237777985G>A	ENST00000366574.2	+	37	5874	c.5557G>A	c.(5557-5559)Gaa>Aaa	p.E1853K	RYR2_ENST00000542537.1_Missense_Mutation_p.E1837K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1851K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1853	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E1851K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGTTTAAAGAAGCTGCCAC	0.517													12	28					0	0	0	0	A	237777985	G	A	237777985	3	1	328	1	0	0	0	0	1	0	0	0	13854	943	33	2	5703	2	RYR2	1	237777985	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	47942	237777985	11472636	263	58477											
RYR2	6262	broad.mit.edu	37	chr1	237798220	237798220	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagaggttcaacaccactGgatgtggctgcagcttcggt	9	10	13	9	1	1	1	1	1	0	1	2	3	1	2	1	4	3	4	1	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237798220G>A	ENST00000366574.2	+	44	7037	c.6720G>A	c.(6718-6720)ctG>ctA	p.L2240L	RYR2_ENST00000542537.1_Silent_p.L2224L|RYR2_ENST00000360064.6_Silent_p.L2238L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2240	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACACCACTGGATGTGGCTG	0.423													9	4					0	0	0	0	A	237798220	G	A	237798220	2	1	328	1	0	0	0	0	0	0	0	1	13854	1335	47	4		4	RYR2	1	237798220	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	20235	237798220	11452401	264	58478											
RYR2	6262	broad.mit.edu	37	chr1	237819251	237819251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcatcaatggattctgaagGgaactttaacccacaacctg	13	10	8	10	0	3	1	2	1	1	0	3	3	3	3	2	2	3	0	2	2	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237819251G>A	ENST00000366574.2	+	53	8413	c.8096G>A	c.(8095-8097)gGg>gAg	p.G2699E	RYR2_ENST00000542537.1_Missense_Mutation_p.G2683E|RYR2_ENST00000360064.6_Missense_Mutation_p.G2697E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2699	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATTCTGAAGGGAACTTTAAC	0.403													8	4					0	0	0	0	A	237819251	G	A	237819251	3	1	328	1	0	0	0	0	1	0	0	0	13854	1232	43	4	8306	4	RYR2	1	237819251	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	21031	237819251	11431370	265	58479											
RYR2	6262	broad.mit.edu	37	chr1	237890480	237890480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagcctgcttccggatggccCccttatataatctgccaagg	8	11	9	13	1	1	0	0	0	1	0	2	1	2	1	5	3	3	1	5	3	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237890480C>T	ENST00000366574.2	+	76	11136	c.10819C>T	c.(10819-10821)Ccc>Tcc	p.P3607S	RYR2_ENST00000542537.1_Missense_Mutation_p.P3591S|RYR2_ENST00000360064.6_Missense_Mutation_p.P3605S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3607					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGGATGGCCCCCTTATATAA	0.398													19	19					0	0	0	0	T	237890480	C	T	237890480	3	4	328	1	0	0	0	0	1	0	0	0	13854	623	22	4	11121	4	RYR2	1	237890480	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	71229	237890480	11360141	266	58480											
RYR2	6262	broad.mit.edu	37	chr1	237895414	237895414	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatcctctacatcagctgatCcttctgtttagtcggacagc	8	13	8	12	1	3	1	1	1	2	0	6	3	5	2	2	1	3	2	2	1	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237895414C>T	ENST00000366574.2	+	78	11321	c.11004C>T	c.(11002-11004)atC>atT	p.I3668I	RYR2_ENST00000542537.1_Silent_p.I3652I|RYR2_ENST00000360064.6_Silent_p.I3666I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3668					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCAGCTGATCCTTCTGTTTA	0.423													36	11					0	0	0	0	T	237895414	C	T	237895414	2	4	328	1	0	0	0	0	0	0	0	1	13854	845	30	2		2	RYR2	1	237895414	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4934	237895414	11355207	267	58481											
CHRM3	1131	broad.mit.edu	37	chr1	240071631	240071631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgaagctgcagcagttacGaacttcaacagcaaagcatg	14	7	9	11	2	1	0	1	0	0	0	2	2	1	0	0	0	8	6	0	0	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240071631G>A	ENST00000255380.4	+	5	1659	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	294					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CAGCAGTTACGAACTTCAACA	0.547													14	36					0	0	0	0	A	240071631	G	A	240071631	3	1	328	1	0	0	0	0	1	0	0	0	3407	1059	37	1	882	1	CHRM3	1	240071631	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2176217	240071631	9178990	268	58482											
FMN2	56776	broad.mit.edu	37	chr1	240371520	240371520	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcctccccctcttccCggagcgggcatacctcctcc	3	8	6	24	2	1	0	0	0	1	0	6	1	6	1	9	2	2	1	9	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240371520C>T	ENST00000319653.9	+	5	3638	c.3408C>T	c.(3406-3408)ccC>ccT	p.P1136P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1136	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTTCCCGGAGCGGGCA	0.716													4	2					0	0	0	0	T	240371520	C	T	240371520	2	4	328	1	0	0	0	0	0	0	0	1	5995	639	23	1		1	FMN2	1	240371520	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	299889	240371520	8879101	269	58483											
FMN2	56776	broad.mit.edu	37	chr1	240371744	240371744	+	Missense_Mutation	SNP	C	C	T																															tgggattcccccacctcctcCcttgccaggtatggggattc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240371744C>T	ENST00000319653.9	+	5	3862	c.3632C>T	c.(3631-3633)cCc>cTc	p.P1211L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1211	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCACCTCCTCCCTTGCCAGGT	0.642													5	3					0	0	0	0	T	240371744	C	T	240371744	3	4	328	1	0	0	0	0	1	0	0	0	5995	623	22	4	3650	4	FMN2	1	240371744	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	224	240371744	8878877	270	58484	496	2									
FMN2	56776	broad.mit.edu	37	chr1	240371745	240371745	+	Silent	SNP	C	C	T																															gggattcccccacctcctccCttgccaggtatggggattcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240371745C>T	ENST00000319653.9	+	5	3863	c.3633C>T	c.(3631-3633)ccC>ccT	p.P1211P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1211	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACCTCCTCCCTTGCCAGGTA	0.642													5	3					0	0	0	0	T	240371745	C	T	240371745	2	4	328	1	0	0	0	0	0	0	0	1	5995	668	24	4		4	FMN2	1	240371745	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	240371745	8878876	271	58485	496	2									
RGS7	6000	broad.mit.edu	37	chr1	240964793	240964793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcaaaagatgttctgcgatCcattgagtttccagacttac	11	14	7	9	1	2	3	1	1	1	2	4	4	4	3	2	0	2	2	2	0	3	5	rs141557672	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240964793C>T	ENST00000366565.1	-	17	1756	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	RGS7_ENST00000446183.2_Intron|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000407727.1_Missense_Mutation_p.D459N|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000348120.2_Intron	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	459					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTTCTGCGATCCATTGAGTTT	0.333													17	4					0	0	0	0	T	240964793	C	T	240964793	3	4	328	1	0	0	0	0	1	0	0	0	13393	855	30	2	96	2	RGS7	1	240964793	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	593048	240964793	8285828	272	58486											
RGS7	6000	broad.mit.edu	37	chr1	240976931	240976931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacctaccttgcctcaagttCccagaaagtggtgtcatcgg	9	10	9	13	1	2	1	2	0	0	1	4	1	3	1	4	2	2	1	4	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240976931C>T	ENST00000366565.1	-	13	1324	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	RGS7_ENST00000446183.2_Missense_Mutation_p.E231K|RGS7_ENST00000366564.1_Missense_Mutation_p.E315K|RGS7_ENST00000407727.1_Missense_Mutation_p.E315K|RGS7_ENST00000366562.4_Missense_Mutation_p.E315K|RGS7_ENST00000366563.1_Missense_Mutation_p.E315K|RGS7_ENST00000331110.7_Missense_Mutation_p.E289K|RGS7_ENST00000401882.1_Missense_Mutation_p.E262K|RGS7_ENST00000348120.2_Missense_Mutation_p.E262K	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	315	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GCCTCAAGTTCCCAGAAAGTG	0.433													25	9					0	0	0	0	T	240976931	C	T	240976931	3	4	328	1	0	0	0	0	1	0	0	0	13393	864	30	2	544	2	RGS7	1	240976931	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	12138	240976931	8273690	273	58487											
NLRP3	114548	broad.mit.edu	37	chr1	247588039	247588039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggagagtggcaagagcCttgcccagacatccaagacc	13	5	12	11	0	0	5	0	0	0	5	1	6	1	5	4	2	2	1	4	2	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:247588039C>T	ENST00000366497.2	+	4	2074	c.1294C>T	c.(1294-1296)Ctt>Ttt	p.L432F	NLRP3_ENST00000366496.2_Missense_Mutation_p.L432F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.L432F|NLRP3_ENST00000391828.3_Missense_Mutation_p.L432F|NLRP3_ENST00000348069.2_Missense_Mutation_p.L432F|NLRP3_ENST00000336119.3_Missense_Mutation_p.L432F	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	432	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L432I(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGGCAAGAGCCTTGCCCAGAC	0.597													20	24					0	0	0	0	T	247588039	C	T	247588039	3	4	328	1	0	0	0	0	1	0	0	0	10548	681	24	4	1304	4	NLRP3	1	247588039	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6611108	247588039	1662582	274	58488											
OR6F1	343169	broad.mit.edu	37	chr1	247875782	247875782	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagacagcttgtaaatgaTatggtctgacttctccccag	13	11	8	9	0	2	3	0	2	2	1	3	3	2	3	2	1	1	2	2	1	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:247875782T>C	ENST00000302084.2	-	1	323	c.276A>G	c.(274-276)atA>atG	p.I92M	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGTAAATGATATGGTCTGAC	0.483													40	16					0	0	0	0	C	247875782	T	C	247875782	3	2	328	1	0	0	0	0	1	0	0	0	11272	1396	49	5	654	5	OR6F1	1	247875782	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	287743	247875782	1374839	275	58489											
OR14A16	284532	broad.mit.edu	37	chr1	247978452	247978452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataaggatgagtgcaatttCtcttattaaattttctgagc	13	16	7	5	0	2	2	0	2	2	0	3	3	2	3	0	1	2	1	0	1	6	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:247978452C>T	ENST00000357627.1	-	1	579	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AGTGCAATTTCTCTTATTAAA	0.383													44	19					0	0	0	0	T	247978452	C	T	247978452	3	4	328	1	0	0	0	0	1	0	0	0	11016	922	32	2	353	2	OR14A16	1	247978452	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	102670	247978452	1272169	276	58490											
OR2T8	343172	broad.mit.edu	37	chr1	248084355	248084355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatacctcttatttcattctCctaggactctttaaccacac	10	16	2	13	0	4	0	1	0	3	0	5	1	4	1	3	1	2	0	3	1	5	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248084355C>T	ENST00000319968.4	+	1	36	c.36C>T	c.(34-36)ctC>ctT	p.L12L		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATTTCATTCTCCTAGGACTCT	0.413													27	37					0	0	0	0	T	248084355	C	T	248084355	2	4	328	1	0	0	0	0	0	0	0	1	11101	842	30	2		2	OR2T8	1	248084355	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	105903	248084355	1166266	277	58491											
OR2T8	343172	broad.mit.edu	37	chr1	248084497	248084497	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacacgcccatgtacttcCtcctgagccaactttccctc	7	11	4	19	1	0	1	0	1	0	0	5	1	4	1	6	0	3	1	6	0	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248084497C>G	ENST00000319968.4	+	1	178	c.178C>G	c.(178-180)Ctc>Gtc	p.L60V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CATGTACTTCCTCCTGAGCCA	0.542													6	99					0	0	0	0	G	248084497	C	G	248084497	3	3	328	1	0	0	0	0	1	0	0	0	11101	681	24	4	180	4	OR2T8	1	248084497	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	142	248084497	1166124	278	58492											
OR2L2	26246	broad.mit.edu	37	chr1	248201602	248201602	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcaaacatcaactgatttCatcttattggggctgttccc	11	14	6	10	0	4	1	3	1	1	0	5	1	5	1	1	2	2	2	1	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248201602C>T	ENST00000366479.2	+	1	129	c.33C>T	c.(31-33)ttC>ttT	p.F11F	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAACTGATTTCATCTTATTGG	0.358													52	70					0	0	0	0	T	248201602	C	T	248201602	2	4	328	1	0	0	0	0	0	0	0	1	11078	825	29	2		2	OR2L2	1	248201602	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	117105	248201602	1049019	279	58493											
OR2L2	26246	broad.mit.edu	37	chr1	248202350	248202350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgcttatacctatgtacgtCcaagatccctgcgatctcca	9	13	6	13	2	1	1	0	0	1	1	4	2	3	1	4	0	4	2	4	0	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248202350C>T	ENST00000366479.2	+	1	877	c.781C>T	c.(781-783)Cca>Tca	p.P261S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTATGTACGTCCAAGATCCCT	0.493													38	44					0	0	0	0	T	248202350	C	T	248202350	3	4	328	1	0	0	0	0	1	0	0	0	11078	855	30	2	783	2	OR2L2	1	248202350	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	748	248202350	1048271	280	58494											
OR2L3	391192	broad.mit.edu	37	chr1	248224262	248224262	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaacaagtctatctccttCactgggtgtgggattcagag	9	12	12	8	0	4	1	2	0	2	1	5	2	4	2	1	3	1	1	1	3	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248224262C>T	ENST00000359959.3	+	1	279	c.279C>T	c.(277-279)ttC>ttT	p.F93F	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTATCTCCTTCACTGGGTGTG	0.433													42	146					0	0	0	0	T	248224262	C	T	248224262	2	4	328	1	0	0	0	0	0	0	0	1	11079	825	29	2		2	OR2L3	1	248224262	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	21912	248224262	1026359	281	58495											
OR2M5	127059	broad.mit.edu	37	chr1	248308465	248308465	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcatggcatgggagaatCagaccttcaactctgacttc	11	11	8	11	0	5	3	4	1	1	2	6	4	5	3	1	2	1	1	1	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248308465C>T	ENST00000366476.1	+	1	16	c.16C>T	c.(16-18)Cag>Tag	p.Q6*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGGGAGAATCAGACCTTCAA	0.423													126	59					0	0	0	0	T	248308465	C	T	248308465	4	4	328	1	0	0	0	0	0	1	0	0	11084	827	29	2	18	2	OR2M5	1	248308465	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	84203	248308465	942156	282	58496											
OR2M3	127062	broad.mit.edu	37	chr1	248366679	248366679	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgccacacaaattttcttcTatacatcactgcttggctct	9	15	5	12	0	4	0	1	0	3	0	4	0	4	0	1	1	3	2	1	1	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248366679T>G	ENST00000456743.1	+	1	348	c.310T>G	c.(310-312)Tat>Gat	p.Y104D		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AATTTTCTTCTATACATCACT	0.478													220	70					0	0	0	0	G	248366679	T	G	248366679	3	3	328	1	0	0	0	0	1	0	0	0	11082	1522	53	5	312	5	OR2M3	1	248366679	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	58214	248366679	883942	283	58497											
OR14C36	127066	broad.mit.edu	37	chr1	248512100	248512100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaattcaaccaccgtgatGgaatttctcctcatgaggtt	10	12	7	12	1	3	2	2	2	1	0	4	3	3	3	4	2	1	1	4	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248512100G>A	ENST00000317861.1	+	1	24	c.24G>A	c.(22-24)atG>atA	p.M8I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CCACCGTGATGGAATTTCTCC	0.413													19	15					0	0	0	0	A	248512100	G	A	248512100	3	1	328	1	0	0	0	0	1	0	0	0	11017	1348	47	4	26	4	OR14C36	1	248512100	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	145421	248512100	738521	284	58498											
OR2T4	127074	broad.mit.edu	37	chr1	248525838	248525838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcactccagtggtgaaccCtttaatctatagtcttagga	10	13	7	11	0	3	1	1	1	2	0	4	2	4	2	3	2	1	0	3	2	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248525838C>T	ENST00000366475.1	+	1	956	c.956C>T	c.(955-957)cCt>cTt	p.P319L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGGTGAACCCTTTAATCTAT	0.458													92	23					0	0	0	0	T	248525838	C	T	248525838	3	4	328	1	0	0	0	0	1	0	0	0	11098	681	24	4	958	4	OR2T4	1	248525838	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	13738	248525838	724783	285	58499											
OR2T3	343173	broad.mit.edu	37	chr1	248636947	248636947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgataccatttcccCgtcaggctgtgggatccaga	9	10	12	10	1	1	3	1	1	0	2	3	5	3	4	4	3	1	1	4	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248636947C>T	ENST00000359594.2	+	1	321	c.296C>T	c.(295-297)cCg>cTg	p.P99L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P99L(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCATTTCCCCGTCAGGCTGT	0.547													30	13					0	0	0	0	T	248636947	C	T	248636947	3	4	328	1	0	0	0	0	1	0	0	0	11094	652	23	1	298	1	OR2T3	1	248636947	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	111109	248636947	613674	286	58500											
ALLC	55821	broad.mit.edu	37	chr2	3730584	3730584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catgactgagcttaagccagGaaaccctgcttccggccaca	11	7	9	14	1	0	2	0	2	0	0	1	3	1	3	4	2	4	2	4	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:3730584G>A	ENST00000252505.3	+	7	593	c.431G>A	c.(430-432)gGa>gAa	p.G144E		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	163							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CTTAAGCCAGGAAACCCTGCT	0.413										HNSCC(21;0.051)			74	111					0	0	0	0	A	3730584	G	A	3730584	3	1	328	1	0	0	0	0	1	0	0	0	534	1174	41	2	453	2	ALLC	2	3730584	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08		3730584	239468789	287	58501											
SOX11	6664	broad.mit.edu	37	chr2	5833255	5833255	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcggccaagcccagcgcCagccagagcccagagaagag	11	1	12	17	2	0	3	0	0	0	3	1	4	0	3	6	1	4	0	6	1	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:5833255C>A	ENST00000322002.3	+	1	457	c.402C>A	c.(400-402)gcC>gcA	p.A134A		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	134					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCCCAGCGCCAGCCAGAGCC	0.706													9	14					9.70103e-10	9.78597e-10	1	0	A	5833255	C	A	5833255	2	1	328	1	0	0	0	0	0	0	0	1	15030	581	21	4		4	SOX11	2	5833255	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2102671	5833255	237366118	288	58502											
MBOAT2	129642	broad.mit.edu	37	chr2	9022664	9022664	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagctaaatccctctgtgaGgaagtcagttcttcatcctt	10	13	7	11	0	4	1	2	1	2	0	6	2	6	2	2	1	1	2	2	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:9022664G>A	ENST00000305997.3	-	6	681	c.483C>T	c.(481-483)tcC>tcT	p.S161S	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	161					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCCTCTGTGAGGAAGTCAGTT	0.483													20	27					0	0	0	0	A	9022664	G	A	9022664	2	1	328	1	0	0	0	0	0	0	0	1	9426	987	35	4		4	MBOAT2	2	9022664	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3189409	9022664	234176709	289	58503											
GREB1	9687	broad.mit.edu	37	chr2	11716512	11716512	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtgttggctgtggaaagaAaggcttctgttacttcacgg	8	14	13	6	1	2	1	1	0	1	1	2	2	2	2	0	4	1	4	0	4	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:11716512A>G	ENST00000381486.2	+	5	788	c.488A>G	c.(487-489)aAa>aGa	p.K163R	GREB1_ENST00000389825.3_Missense_Mutation_p.K53R|GREB1_ENST00000234142.5_Missense_Mutation_p.K163R|GREB1_ENST00000381483.2_Missense_Mutation_p.K163R|GREB1_ENST00000263834.5_Missense_Mutation_p.K163R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	163						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGTGGAAAGAAAGGCTTCTGT	0.383													44	104					0	0	0	0	G	11716512	A	G	11716512	3	3	328	1	0	0	0	0	1	0	0	0	6810	14	1	5	502	5	GREB1	2	11716512	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	2693848	11716512	231482861	290	58504											
GREB1	9687	broad.mit.edu	37	chr2	11774278	11774278	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagttctcctggtcggaaagGaacgtgtctttgaagcacat	10	11	12	8	2	2	1	0	1	2	0	4	4	2	3	1	3	2	2	1	3	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:11774278G>A	ENST00000381486.2	+	29	5313	c.5013G>A	c.(5011-5013)agG>agA	p.R1671R	GREB1_ENST00000396123.1_Silent_p.R669R|GREB1_ENST00000234142.5_Silent_p.R1671R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1671						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGTCGGAAAGGAACGTGTCTT	0.617													35	73					0	0	0	0	A	11774278	G	A	11774278	2	1	328	1	0	0	0	0	0	0	0	1	6810	1165	41	2		2	GREB1	2	11774278	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	57766	11774278	231425095	291	58505											
NBAS	51594	broad.mit.edu	37	chr2	15519940	15519940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgactagagcacagaaGgctttctgtaaatatctgga	14	9	11	7	1	2	2	0	0	2	2	2	4	2	3	0	3	1	3	0	3	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15519940G>A	ENST00000281513.5	-	30	3401	c.3376C>T	c.(3376-3378)Ctt>Ttt	p.L1126F	NBAS_ENST00000441750.1_Missense_Mutation_p.L1006F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1126										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGCACAGAAGGCTTTCTGTA	0.423													25	51					0	0	0	0	A	15519940	G	A	15519940	3	1	328	1	0	0	0	0	1	0	0	0	10256	1000	35	4	3831	4	NBAS	2	15519940	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3745662	15519940	227679433	292	58506											
NBAS	51594	broad.mit.edu	37	chr2	15555680	15555680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctacttacatctggtttgGaatgctgaaatatcttcagg	10	16	8	7	0	4	1	1	1	3	0	4	2	4	2	0	3	3	2	0	3	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15555680G>A	ENST00000281513.5	-	25	2952	c.2927C>T	c.(2926-2928)tCc>tTc	p.S976F	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	976										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATCTGGTTTGGAATGCTGAAA	0.343													19	41					0	0	0	0	A	15555680	G	A	15555680	3	1	328	1	0	0	0	0	1	0	0	0	10256	1174	41	2	4300	2	NBAS	2	15555680	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	35740	15555680	227643693	293	58507											
NBAS	51594	broad.mit.edu	37	chr2	15567889	15567889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtttatgttcatgccaaGgaatgatcatcagggagtca	11	12	12	6	0	4	1	4	1	0	0	4	3	4	3	1	3	1	2	1	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15567889G>A	ENST00000281513.5	-	22	2394	c.2369C>T	c.(2368-2370)cCt>cTt	p.P790L	NBAS_ENST00000441750.1_Missense_Mutation_p.P790L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	790										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCATGCCAAGGAATGATCAT	0.403													6	14					0	0	0	0	A	15567889	G	A	15567889	3	1	328	1	0	0	0	0	1	0	0	0	10256	1000	35	4	4870	4	NBAS	2	15567889	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	12209	15567889	227631484	294	58508											
NBAS	51594	broad.mit.edu	37	chr2	15607790	15607790	+	Silent	SNP	G	G	A																															cagtaacaactcatttacttGgaaaagttcactaatttcag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15607790G>A	ENST00000281513.5	-	18	2041	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	NBAS_ENST00000441750.1_Silent_p.S672S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	672								p.S672S(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCATTTACTTGGAAAAGTTCA	0.328													6	16					0	0	0	0	A	15607790	G	A	15607790	2	1	328	1	0	0	0	0	0	0	0	1	10256	1335	47	4		4	NBAS	2	15607790	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	39901	15607790	227591583	295	58509	497	2									
NBAS	51594	broad.mit.edu	37	chr2	15607791	15607791	+	Missense_Mutation	SNP	G	G	A																															agtaacaactcatttacttgGaaaagttcactaatttcagt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15607791G>A	ENST00000281513.5	-	18	2040	c.2015C>T	c.(2014-2016)tCc>tTc	p.S672F	NBAS_ENST00000441750.1_Missense_Mutation_p.S672F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	672										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CATTTACTTGGAAAAGTTCAC	0.323													6	16					0	0	0	0	A	15607791	G	A	15607791	3	1	328	1	0	0	0	0	1	0	0	0	10256	1174	41	2	5240	2	NBAS	2	15607791	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	15607791	227591582	296	58510	497	2									
DDX1	1653	broad.mit.edu	37	chr2	15737538	15737538	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagatagtttatgaaactCtgaaagaccaacaggaaggc	16	8	9	8	0	1	4	0	2	1	2	2	5	2	5	2	2	2	1	2	2	6	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15737538C>T	ENST00000381341.2	+	6	591	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	DDX1_ENST00000233084.3_Silent_p.L68L			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	68	Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TTATGAAACTCTGAAAGACCA	0.284													18	23					0	0	0	0	T	15737538	C	T	15737538	2	4	328	1	0	0	0	0	0	0	0	1	4373	912	32	2		2	DDX1	2	15737538	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	129747	15737538	227461835	297	58511											
PUM2	23369	broad.mit.edu	37	chr2	20463022	20463022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctctaagctgaaggtttggGaagcggttgtttctgaaatc	9	14	12	6	1	2	2	0	2	2	0	4	3	2	3	0	3	2	4	0	3	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:20463022G>A	ENST00000361078.2	-	13	2179	c.2157C>T	c.(2155-2157)ttC>ttT	p.F719F	PUM2_ENST00000319801.5_Silent_p.F640F|PUM2_ENST00000338086.5_Silent_p.F719F|PUM2_ENST00000403432.1_Silent_p.F719F|PUM2_ENST00000536417.1_Silent_p.F663F			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	719	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGGTTTGGGAAGCGGTTGT	0.423													24	42					0	0	0	0	A	20463022	G	A	20463022	2	1	328	1	0	0	0	0	0	0	0	1	12908	1165	41	2		2	PUM2	2	20463022	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4725484	20463022	222736351	298	58512											
APOB	338	broad.mit.edu	37	chr2	21229160	21229160	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagcttcactgaagacCgtgtgctcttggaattcaag	9	11	10	11	1	3	2	2	1	1	1	3	3	3	3	2	1	3	3	2	1	3	3	rs5742904	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:21229160C>G	ENST00000233242.1	-	26	10707	c.10580G>C	c.(10579-10581)cGg>cCg	p.R3527P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3527			R -> Q (in FDB; dbSNP:rs5742904).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACTGAAGACCGTGTGCTCTT	0.428													48	76					0	0	0	0	G	21229160	C	G	21229160	3	3	328	1	0	0	0	0	1	0	0	0	787	652	23	3	3127	3	APOB	2	21229160	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	766138	21229160	221970213	299	58513											
NCOA1	8648	broad.mit.edu	37	chr2	24929891	24929891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atatttcgacattaagctctCccgttggcatgacaagtagt	11	13	8	9	2	1	1	0	1	1	0	3	2	1	1	1	1	1	4	1	1	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:24929891C>T	ENST00000405141.1	+	14	2263	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S	NCOA1_ENST00000406961.1_Missense_Mutation_p.P518S|NCOA1_ENST00000395856.3_Missense_Mutation_p.P518S|NCOA1_ENST00000348332.3_Missense_Mutation_p.P518S|NCOA1_ENST00000288599.5_Missense_Mutation_p.P518S|NCOA1_ENST00000407230.1_Missense_Mutation_p.P367S|NCOA1_ENST00000538539.1_Missense_Mutation_p.P518S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	518	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTAAGCTCTCCCGTTGGCAT	0.418			T	PAX3	alveolar rhadomyosarcoma								33	70					0	0	0	0	T	24929891	C	T	24929891	3	4	328	1	0	0	0	0	1	0	0	0	10298	855	30	2	1586	2	NCOA1	2	24929891	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3700731	24929891	218269482	300	58514											
POMC	5443	broad.mit.edu	37	chr2	25384196	25384196	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtcggggccatctccctcCcggagtcgctggccagtcag	4	7	13	17	4	2	0	1	0	1	0	6	1	3	1	5	4	0	1	5	4	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:25384196C>T	ENST00000405623.1	-	3	1013	c.558G>A	c.(556-558)cgG>cgA	p.R186R	POMC_ENST00000380794.1_Silent_p.R186R|POMC_ENST00000395826.2_Silent_p.R186R|POMC_ENST00000264708.3_Silent_p.R186R			P01189	COLI_HUMAN	proopiomelanocortin	186					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CATCTCCCTCCCGGAGTCGCT	0.711													9	12					0	0	0	0	T	25384196	C	T	25384196	2	4	328	1	0	0	0	0	0	0	0	1	12314	610	22	4		4	POMC	2	25384196	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	454305	25384196	217815177	301	58515											
DNMT3A	1788	broad.mit.edu	37	chr2	25470969	25470969	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccagcatcggaccccacGggctcaggcgtggtagccac	7	5	12	17	3	1	0	1	0	0	0	3	1	2	1	5	4	2	3	5	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:25470969G>A	ENST00000264709.3	-	7	1129	c.792C>T	c.(790-792)ccC>ccT	p.P264P	DNMT3A_ENST00000380746.4_Silent_p.P75P|DNMT3A_ENST00000402667.1_Silent_p.P41P|DNMT3A_ENST00000321117.5_Silent_p.P264P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	264	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGACCCCACGGGCTCAGGCG	0.657			"Mis, F, N, S"		AML								39	45					0	0	0	0	A	25470969	G	A	25470969	2	1	328	1	0	0	0	0	0	0	0	1	4712	1103	39	1		1	DNMT3A	2	25470969	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	86773	25470969	217728404	302	58516											
OTOF	9381	broad.mit.edu	37	chr2	26707344	26707344	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtagctgggcctcacccCtcaatgtcatcttcgtcggt	5	11	12	13	2	4	0	3	0	1	0	6	0	4	0	3	4	1	2	3	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:26707344C>T	ENST00000272371.2	-	12	1329	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	OTOF_ENST00000403946.3_Silent_p.E401E	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	401					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTCACCCCTCAATGTCAT	0.632													12	16					0	0	0	0	T	26707344	C	T	26707344	2	4	328	1	0	0	0	0	0	0	0	1	11374	680	24	4		4	OTOF	2	26707344	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1236375	26707344	216492029	303	58517											
DPYSL5	56896	broad.mit.edu	37	chr2	27167532	27167532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccttccctagactttaaaGgttagaggagtggaccgcac	11	10	10	10	1	0	2	0	0	0	2	2	4	2	4	3	3	0	2	3	3	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27167532G>A	ENST00000288699.6	+	12	1607	c.1449G>A	c.(1447-1449)aaG>aaA	p.K483K	DPYSL5_ENST00000401478.1_Silent_p.K483K	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	483					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACTTTAAAGGTTAGAGGAG	0.557													29	24					0	0	0	0	A	27167532	G	A	27167532	2	1	328	1	0	0	0	0	0	0	0	1	4786	991	35	4		4	DPYSL5	2	27167532	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	460188	27167532	216031841	304	58518											
EMILIN1	11117	broad.mit.edu	37	chr2	27306172	27306172	+	Missense_Mutation	SNP	G	G	A																															ggggctgctgcaggcccatgGggatgagggctgtggggcct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27306172G>A	ENST00000380320.4	+	4	2232	c.1733G>A	c.(1732-1734)gGg>gAg	p.G578E		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	578					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCCCATGGGGATGAGGGC	0.657													24	26					0	0	0	0	A	27306172	G	A	27306172	3	1	328	1	0	0	0	0	1	0	0	0	5131	1232	43	4	1747	4	EMILIN1	2	27306172	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	138640	27306172	215893201	305	58519	498	2									
EMILIN1	11117	broad.mit.edu	37	chr2	27306173	27306173	+	Silent	SNP	G	G	A																															gggctgctgcaggcccatggGgatgagggctgtggggcctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27306173G>A	ENST00000380320.4	+	4	2233	c.1734G>A	c.(1732-1734)ggG>ggA	p.G578G		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	578					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCCCATGGGGATGAGGGCT	0.657													23	26					0	0	0	0	A	27306173	G	A	27306173	2	1	328	1	0	0	0	0	0	0	0	1	5131	1219	43	4		4	EMILIN1	2	27306173	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	27306173	215893200	306	58520	498	2									
SNX17	9784	broad.mit.edu	37	chr2	27596751	27596751	+	Silent	SNP	G	G	A																															acacagcaggtccccacagaGgaagtgtccttggaagtgct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27596751G>A	ENST00000233575.2	+	5	567	c.345G>A	c.(343-345)gaG>gaA	p.E115E	SNX17_ENST00000537606.1_Silent_p.E90E|SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000543024.1_5'UTR	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	115	Ras-associating.				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCACAGAGGAAGTGTCCT	0.537													6	19					0	0	0	0	A	27596751	G	A	27596751	2	1	328	1	0	0	0	0	0	0	0	1	14976	991	35	4		4	SNX17	2	27596751	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	290578	27596751	215602622	307	58521	499	2									
SNX17	9784	broad.mit.edu	37	chr2	27596752	27596752	+	Missense_Mutation	SNP	G	G	A																															cacagcaggtccccacagagGaagtgtccttggaagtgctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27596752G>A	ENST00000233575.2	+	5	568	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	SNX17_ENST00000537606.1_Missense_Mutation_p.E91K|SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000543024.1_5'UTR	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	116	Ras-associating.				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCACAGAGGAAGTGTCCTT	0.537													6	19					0	0	0	0	A	27596752	G	A	27596752	3	1	328	1	0	0	0	0	1	0	0	0	14976	1175	41	2	364	2	SNX17	2	27596752	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	27596752	215602621	308	58522	499	2									
FNDC4	64838	broad.mit.edu	37	chr2	27715552	27715552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcttgtccccactggcCttccctgaggactctgttcc	3	13	8	17	0	2	1	0	1	2	0	5	2	5	2	6	2	0	1	6	2	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27715552C>T	ENST00000264703.3	-	6	1041	c.650G>A	c.(649-651)aGg>aAg	p.R217K		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	217						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CCCCACTGGCCTTCCCTGAGG	0.567													48	81					0	0	0	0	T	27715552	C	T	27715552	3	4	328	1	0	0	0	0	1	0	0	0	6016	681	24	4	62	4	FNDC4	2	27715552	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	118800	27715552	215483821	309	58523											
GCKR	2646	broad.mit.edu	37	chr2	27730568	27730568	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtccccagttcaccttctcCcaggaggacttcctgacttc	6	11	8	16	0	2	1	1	1	1	0	6	3	4	3	5	3	0	1	5	3	0	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27730568C>T	ENST00000264717.2	+	14	1227	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	GCKR_ENST00000424318.2_Silent_p.S198S	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	388	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TCACCTTCTCCCAGGAGGACT	0.542													20	42					0	0	0	0	T	27730568	C	T	27730568	2	4	328	1	0	0	0	0	0	0	0	1	6343	610	22	4		4	GCKR	2	27730568	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	15016	27730568	215468805	310	58524											
C2orf16	84226	broad.mit.edu	37	chr2	27802341	27802341	+	Missense_Mutation	SNP	G	G	A																															agagacatactttttatcatGgtcataagaaaagaatggcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27802341G>A	ENST00000408964.2	+	1	2953	c.2902G>A	c.(2902-2904)Ggt>Agt	p.G968S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	968										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TTTTTATCATGGTCATAAGAA	0.413													18	49					0	0	0	0	A	27802341	G	A	27802341	3	1	328	1	0	0	0	0	1	0	0	0	2177	1348	47	4	2904	4	C2orf16	2	27802341	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	71773	27802341	215397032	311	58525	500	2									
C2orf16	84226	broad.mit.edu	37	chr2	27802342	27802342	+	Missense_Mutation	SNP	G	G	A																															gagacatactttttatcatgGtcataagaaaagaatggcct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27802342G>A	ENST00000408964.2	+	1	2954	c.2903G>A	c.(2902-2904)gGt>gAt	p.G968D		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	968										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TTTTATCATGGTCATAAGAAA	0.418													18	50					0	0	0	0	A	27802342	G	A	27802342	3	1	328	1	0	0	0	0	1	0	0	0	2177	1261	44	4	2905	4	C2orf16	2	27802342	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	27802342	215397031	312	58526	500	2									
ZNF512	84450	broad.mit.edu	37	chr2	27823642	27823642	+	Missense_Mutation	SNP	C	C	T																															ccaggcagtggggaggaagaCcatagagggtttaaagaaac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27823642C>T	ENST00000355467.4	+	6	625	c.542C>T	c.(541-543)aCc>aTc	p.T181I	ZNF512_ENST00000379717.1_Missense_Mutation_p.T180I|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_Missense_Mutation_p.T152I|ZNF512_ENST00000413371.2_Missense_Mutation_p.T104I|ZNF512_ENST00000556601.1_Intron			Q96ME7	ZN512_HUMAN	zinc finger protein 512	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GGGAGGAAGACCATAGAGGGT	0.423													31	47					0	0	0	0	T	27823642	C	T	27823642	3	4	328	1	0	0	0	0	1	0	0	0	18051	507	18	4	564	4	ZNF512	2	27823642	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	21300	27823642	215375731	313	58527	501	2									
ZNF512	84450	broad.mit.edu	37	chr2	27823643	27823643	+	Silent	SNP	C	C	T																															caggcagtggggaggaagacCatagagggtttaaagaaaca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27823643C>T	ENST00000355467.4	+	6	626	c.543C>T	c.(541-543)acC>acT	p.T181T	ZNF512_ENST00000379717.1_Silent_p.T180T|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_Silent_p.T152T|ZNF512_ENST00000413371.2_Silent_p.T104T|ZNF512_ENST00000556601.1_Intron			Q96ME7	ZN512_HUMAN	zinc finger protein 512	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GGAGGAAGACCATAGAGGGTT	0.423													31	47					0	0	0	0	T	27823643	C	T	27823643	2	4	328	1	0	0	0	0	0	0	0	1	18051	581	21	4		4	ZNF512	2	27823643	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	27823643	215375730	314	58528	501	2									
RBKS	64080	broad.mit.edu	37	chr2	28004519	28004519	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggtcttttttgtaagggTaagatgactgtgttcctgca	9	15	12	5	0	1	2	0	1	1	1	2	3	2	2	1	2	1	4	1	2	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:28004519T>G	ENST00000302188.3	-	8	1684	c.932A>C	c.(931-933)tAc>tCc	p.Y311S	AC110084.1_ENST00000601759.1_Intron	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	311					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					TTTGTAAGGGTAAGATGACTG	0.433													45	52					0	0	0	0	G	28004519	T	G	28004519	3	3	328	1	0	0	0	0	1	0	0	0	13190	1638	57	5	40	5	RBKS	2	28004519	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	180876	28004519	215194854	315	58529											
FOSL2	2355	broad.mit.edu	37	chr2	28627144	28627144	+	Silent	SNP	C	C	T																															ctgccgggcctggcctctgtCcctggacacatggccctccc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:28627144C>T	ENST00000264716.4	+	2	1136	c.273C>T	c.(271-273)gtC>gtT	p.V91V	FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Silent_p.V66V|FOSL2_ENST00000545753.1_Silent_p.V52V	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	91					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGGCCTCTGTCCCTGGACACA	0.637													54	82					0	0	0	0	T	28627144	C	T	28627144	2	4	328	1	0	0	0	0	0	0	0	1	6033	842	30	2		2	FOSL2	2	28627144	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	622625	28627144	214572229	316	58530	502	2									
FOSL2	2355	broad.mit.edu	37	chr2	28627145	28627145	+	Missense_Mutation	SNP	C	C	T																															tgccgggcctggcctctgtcCctggacacatggccctccca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:28627145C>T	ENST00000264716.4	+	2	1137	c.274C>T	c.(274-276)Cct>Tct	p.P92S	FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Missense_Mutation_p.P67S|FOSL2_ENST00000545753.1_Missense_Mutation_p.P53S	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	92					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GGCCTCTGTCCCTGGACACAT	0.642													54	82					0	0	0	0	T	28627145	C	T	28627145	3	4	328	1	0	0	0	0	1	0	0	0	6033	623	22	4	280	4	FOSL2	2	28627145	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	28627145	214572228	317	58531	502	2									
PLB1	151056	broad.mit.edu	37	chr2	28826894	28826894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagagctagccaggctggagGccttcagccgagcctaccgg	9	5	14	13	2	1	1	1	0	0	1	1	3	1	2	5	4	5	2	5	4	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:28826894G>A	ENST00000422425.2	+	39	2847	c.2803G>A	c.(2803-2805)Gcc>Acc	p.A935T	PLB1_ENST00000327757.5_Missense_Mutation_p.A946T|PLB1_ENST00000541605.1_Intron	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	946	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGGCTGGAGGCCTTCAGCCG	0.607													26	35					0	0	0	0	A	28826894	G	A	28826894	3	1	328	1	0	0	0	0	1	0	0	0	12096	1203	42	4	3027	4	PLB1	2	28826894	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	199749	28826894	214372479	318	58532											
WDR43	23160	broad.mit.edu	37	chr2	29158443	29158443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagactgtattaaggatgccCctgcatactattattccgtt	11	14	7	9	1	0	1	0	0	0	1	1	2	1	2	3	1	3	3	3	1	6	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:29158443C>T	ENST00000407426.3	+	12	1550	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	498						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TAAGGATGCCCCTGCATACTA	0.333													25	44					0	0	0	0	T	29158443	C	T	29158443	2	4	328	1	0	0	0	0	0	0	0	1	17391	610	22	4		4	WDR43	2	29158443	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	331549	29158443	214040930	319	58533											
FAM179A	165186	broad.mit.edu	37	chr2	29245103	29245103	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggatcttagagcctgtaaGgagttgaggcctttctcgaa	10	12	12	7	1	2	2	0	1	2	1	3	5	2	4	2	3	1	2	2	3	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:29245103G>A	ENST00000379558.4	+	11	1791	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	FAM179A_ENST00000403861.2_Silent_p.K425K|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	480							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGCCTGTAAGGAGTTGAGGC	0.542													28	48					0	0	0	0	A	29245103	G	A	29245103	2	1	328	1	0	0	0	0	0	0	0	1	5546	991	35	4		4	FAM179A	2	29245103	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	86660	29245103	213954270	320	58534											
C2orf71	388939	broad.mit.edu	37	chr2	29295426	29295426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaccactgtcctcccctcctCctcctcagaccagtcctggt	5	10	6	20	0	1	1	1	0	0	1	7	2	7	1	9	1	0	0	9	1	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:29295426C>T	ENST00000331664.5	-	1	1701	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	568					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCCCCTCCTCCTCCTCAGAC	0.592													21	40					0	0	0	0	T	29295426	C	T	29295426	3	4	328	1	0	0	0	0	1	0	0	0	2211	864	30	2	2172	2	C2orf71	2	29295426	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	50323	29295426	213903947	321	58535											
ALK	238	broad.mit.edu	37	chr2	29543630	29543630	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtagtaccttggtggtcctgGaaccgggcatcctttagggt	6	12	14	9	1	0	0	0	0	0	0	2	1	2	1	4	5	2	3	4	5	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:29543630G>A	ENST00000389048.3	-	7	2439	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	511	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGTGGTCCTGGAACCGGGCAT	0.557			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				68	126					0	0	0	0	A	29543630	G	A	29543630	2	1	328	1	0	0	0	0	0	0	0	1	525	1165	41	2		2	ALK	2	29543630	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	248204	29543630	213655743	322	58536											
YPEL5	51646	broad.mit.edu	37	chr2	30381531	30381531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagatcgggtcatgctcaCtggccgccacatggttcgag	8	9	12	12	3	3	1	3	0	0	1	5	2	3	1	2	3	1	2	2	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:30381531C>T	ENST00000379520.3	+	5	692	c.188C>T	c.(187-189)aCt>aTt	p.T63I	YPEL5_ENST00000379519.3_Missense_Mutation_p.T63I|YPEL5_ENST00000261353.4_Missense_Mutation_p.T63I|YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000402708.1_Missense_Mutation_p.T63I|YPEL5_ENST00000402003.3_Missense_Mutation_p.T63I	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	63							peptide-methionine-(S)-S-oxide reductase activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					GTCATGCTCACTGGCCGCCAC	0.448													40	42					0	0	0	0	T	30381531	C	T	30381531	3	4	328	1	0	0	0	0	1	0	0	0	17589	565	20	4	194	4	YPEL5	2	30381531	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	837901	30381531	212817842	323	58537											
NLRC4	58484	broad.mit.edu	37	chr2	32475021	32475021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtaggtttctggggcctCttccatgtggattccacctg	6	14	11	10	0	2	0	0	0	2	0	4	1	4	1	4	4	0	2	4	4	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:32475021C>T	ENST00000404025.2	-	5	2400	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.E638K|NLRC4_ENST00000360906.5_Missense_Mutation_p.E638K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	638					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCTGGGGCCTCTTCCATGTGG	0.498													77	115					0	0	0	0	T	32475021	C	T	32475021	3	4	328	1	0	0	0	0	1	0	0	0	10539	922	32	2	1186	2	NLRC4	2	32475021	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2093490	32475021	210724352	324	58538											
BIRC6	57448	broad.mit.edu	37	chr2	32824950	32824950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgcgattcaatccaaacCtttataatgatggcaaggta	13	11	9	8	2	1	1	1	1	0	0	2	2	2	1	2	2	2	2	2	2	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:32824950C>T	ENST00000421745.2	+	70	14109	c.13975C>T	c.(13975-13977)Ctt>Ttt	p.L4659F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4659	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAATCCAAACCTTTATAATGA	0.333													14	13					0	0	0	0	T	32824950	C	T	32824950	3	4	328	1	0	0	0	0	1	0	0	0	1443	681	24	4	14253	4	BIRC6	2	32824950	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	349929	32824950	210374423	325	58539											
LTBP1	4052	broad.mit.edu	37	chr2	33246016	33246016	+	Silent	SNP	C	C	T																															cagaatggagggatgtgtctCcggccacaactctgtgtgtg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:33246016C>T	ENST00000404816.2	+	3	959	c.606C>T	c.(604-606)ctC>ctT	p.L202L	LTBP1_ENST00000354476.3_Silent_p.L202L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	202	EGF-like 1.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGATGTGTCTCCGGCCACAAC	0.498													102	171					0	0	0	0	T	33246016	C	T	33246016	2	4	328	1	0	0	0	0	0	0	0	1	9137	842	30	2		2	LTBP1	2	33246016	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	421066	33246016	209953357	326	58540	503	2									
LTBP1	4052	broad.mit.edu	37	chr2	33246017	33246017	+	Missense_Mutation	SNP	C	C	T																															agaatggagggatgtgtctcCggccacaactctgtgtgtgt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:33246017C>T	ENST00000404816.2	+	3	960	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	LTBP1_ENST00000354476.3_Missense_Mutation_p.R203W			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	203	EGF-like 1.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GATGTGTCTCCGGCCACAACT	0.502													104	168					0	0	0	0	T	33246017	C	T	33246017	3	4	328	1	0	0	0	0	1	0	0	0	9137	643	23	1	617	1	LTBP1	2	33246017	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	33246017	209953356	327	58541	503	2									
RASGRP3	25780	broad.mit.edu	37	chr2	33768606	33768606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaactatgatcacgacCatgatgggtacatttcccaa	14	11	7	9	1	1	3	1	2	0	1	2	4	2	3	2	1	2	1	2	1	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:33768606C>T	ENST00000403687.3	+	13	2046	c.1306C>T	c.(1306-1308)Cat>Tat	p.H436Y	RASGRP3_ENST00000482731.1_3'UTR|RASGRP3_ENST00000407811.1_Missense_Mutation_p.H435Y|RASGRP3_ENST00000402538.3_Missense_Mutation_p.H436Y	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	436	EF-hand 1.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGATCACGACCATGATGGGTA	0.368													3	15					0	0	0	0	T	33768606	C	T	33768606	3	4	328	1	0	0	0	0	1	0	0	0	13158	594	21	4	1348	4	RASGRP3	2	33768606	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	522589	33768606	209430767	328	58542											
GALM	130589	broad.mit.edu	37	chr2	38908571	38908571	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaactacagagcacaagcCagtcaggccacaccagtcaa	15	4	8	14	0	3	1	3	0	0	1	3	1	3	1	3	1	4	1	3	1	4	1	rs146126828	by1000genomes	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:38908571C>T	ENST00000272252.5	+	3	747	c.495C>T	c.(493-495)gcC>gcT	p.A165A	GALM_ENST00000410063.1_Intron	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	165					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				GAGCACAAGCCAGTCAGGCCA	0.507													46	66					0	0	0	0	T	38908571	C	T	38908571	2	4	328	1	0	0	0	0	0	0	0	1	6254	581	21	4		4	GALM	2	38908571	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5139965	38908571	204290802	329	58543											
MAP4K3	8491	broad.mit.edu	37	chr2	39552765	39552765	+	Missense_Mutation	SNP	G	G	A																															tcaaatgttgtgttacaaaaGgatgctataaaaattaaata																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:39552765G>A	ENST00000263881.3	-	12	1136	c.812C>T	c.(811-813)cCt>cTt	p.P271L	MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P208L|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P271L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	271	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGTTACAAAAGGATGCTATAA	0.289													17	31					0	0	0	0	A	39552765	G	A	39552765	3	1	328	1	0	0	0	0	1	0	0	0	9330	1000	35	4	1964	4	MAP4K3	2	39552765	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	644194	39552765	203646608	330	58544	504	2									
MAP4K3	8491	broad.mit.edu	37	chr2	39552766	39552766	+	Missense_Mutation	SNP	G	G	A																															caaatgttgtgttacaaaagGatgctataaaaattaaatac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:39552766G>A	ENST00000263881.3	-	12	1135	c.811C>T	c.(811-813)Cct>Tct	p.P271S	MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P208S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P271S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	271	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTTACAAAAGGATGCTATAAA	0.289													17	30					0	0	0	0	A	39552766	G	A	39552766	3	1	328	1	0	0	0	0	1	0	0	0	9330	1174	41	2	1965	2	MAP4K3	2	39552766	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	39552766	203646607	331	58545	504	2									
SIX3	6496	broad.mit.edu	37	chr2	45169510	45169510	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaccctcaacttctcgccGgagcaggtggccagcgtctg	6	7	11	17	3	3	0	1	0	2	0	4	1	3	1	4	3	3	1	4	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:45169510G>A	ENST00000260653.3	+	1	609	c.267G>A	c.(265-267)ccG>ccA	p.P89P		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	89					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACTTCTCGCCGGAGCAGGTGG	0.746													10	19					0	0	0	0	A	45169510	G	A	45169510	2	1	328	1	0	0	0	0	0	0	0	1	14436	1103	39	1		1	SIX3	2	45169510	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5616744	45169510	198029863	332	58546											
SIX3	6496	broad.mit.edu	37	chr2	45169576	45169576	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcgagcggctgggccgcttCctctggtcgctgcccgtggc	2	9	15	15	5	1	0	0	0	1	0	4	1	2	0	3	4	2	3	3	4	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:45169576C>T	ENST00000260653.3	+	1	675	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	111					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGGCCGCTTCCTCTGGTCGC	0.692													10	21					0	0	0	0	T	45169576	C	T	45169576	2	4	328	1	0	0	0	0	0	0	0	1	14436	854	30	2		2	SIX3	2	45169576	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	66	45169576	198029797	333	58547											
SRBD1	55133	broad.mit.edu	37	chr2	45829214	45829214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttgtcatcttcttcagagGcagatgatctagaagtaaat	12	13	8	8	0	5	4	2	1	3	3	5	4	5	4	1	1	0	2	1	1	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:45829214G>A	ENST00000263736.4	-	3	151	c.89C>T	c.(88-90)gCc>gTc	p.A30V		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	30					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTCTTCAGAGGCAGATGATCT	0.398													23	59					0	0	0	0	A	45829214	G	A	45829214	3	1	328	1	0	0	0	0	1	0	0	0	15223	1203	42	4	2974	4	SRBD1	2	45829214	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	659638	45829214	197370159	334	58548											
LHCGR	3973	broad.mit.edu	37	chr2	48915041	48915041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcaaaagaaagaaatctCtttggaatgtcttagtgaat	16	12	8	5	0	3	3	1	1	2	2	4	4	3	4	0	1	1	1	0	1	7	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:48915041C>T	ENST00000294954.7	-	11	1916	c.1895G>A	c.(1894-1896)aGa>aAa	p.R632K	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.R570K|LHCGR_ENST00000405626.1_Missense_Mutation_p.R605K	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	632					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAAGAAATCTCTTTGGAATGT	0.358													46	70					0	0	0	0	T	48915041	C	T	48915041	3	4	328	1	0	0	0	0	1	0	0	0	8816	913	32	2	208	2	LHCGR	2	48915041	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3085827	48915041	194284332	335	58549											
FSHR	2492	broad.mit.edu	37	chr2	49247274	49247274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacatctgcctctatcacctCcaagacatcattctgagaga	12	10	5	14	0	5	3	2	1	3	2	6	4	6	3	3	0	1	0	3	0	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:49247274C>T	ENST00000406846.2	-	3	369	c.250G>A	c.(250-252)Gag>Aag	p.E84K	FSHR_ENST00000346173.3_Missense_Mutation_p.E84K|FSHR_ENST00000304421.4_Missense_Mutation_p.E84K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	84					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCTATCACCTCCAAGACATCA	0.403									Gonadal Dysgenesis, 46 XX				119	179					0	0	0	0	T	49247274	C	T	49247274	3	4	328	1	0	0	0	0	1	0	0	0	6121	864	30	2	1869	2	FSHR	2	49247274	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	332233	49247274	193952099	336	58550											
NRXN1	9378	broad.mit.edu	37	chr2	51255103	51255103	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaaccggcgtgtcggccagGagcgtcgcaggctcagcgca	7	6	15	13	6	1	0	1	0	0	0	3	1	1	1	2	4	3	3	2	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:51255103G>A	ENST00000404971.1	-	2	1648	c.309C>T	c.(307-309)ctC>ctT	p.L103L	NRXN1_ENST00000405581.1_Silent_p.L103L|NRXN1_ENST00000406316.2_Silent_p.L103L|NRXN1_ENST00000401669.2_Silent_p.L103L|NRXN1_ENST00000402717.3_Silent_p.L103L|NRXN1_ENST00000406859.3_Silent_p.L103L|NRXN1_ENST00000405472.3_Silent_p.L103L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	103	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGTCGGCCAGGAGCGTCGCAG	0.662													11	17					0	0	0	0	A	51255103	G	A	51255103	2	1	328	1	0	0	0	0	0	0	0	1	10736	1161	41	2		2	NRXN1	2	51255103	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2007829	51255103	191944270	337	58551											
PSME4	23198	broad.mit.edu	37	chr2	54175661	54175661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccaaatcagctcttgaaaGaagttcctttttcctaaaaa	14	13	4	10	0	2	2	1	1	1	1	5	2	5	2	3	0	1	2	3	0	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:54175661G>A	ENST00000404125.1	-	3	452	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	133					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTCTTGAAAGAAGTTCCTTT	0.348													32	84					0	0	0	0	A	54175661	G	A	54175661	3	1	328	1	0	0	0	0	1	0	0	0	12788	942	33	2	5310	2	PSME4	2	54175661	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2920558	54175661	189023712	338	58552											
CCDC85A	114800	broad.mit.edu	37	chr2	56599549	56599549	+	Missense_Mutation	SNP	C	C	T																															gaaaggctgggggtccagagCccggcgggtcttgcagtggt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:56599549C>T	ENST00000407595.2	+	4	1890	c.1388C>T	c.(1387-1389)gCc>gTc	p.A463V	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	463										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGGTCCAGAGCCCGGCGGGTC	0.522													6	6					0	0	0	0	T	56599549	C	T	56599549	3	4	328	1	0	0	0	0	1	0	0	0	2886	739	26	4	1402	4	CCDC85A	2	56599549	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2423888	56599549	186599824	339	58553	505	2									
CCDC85A	114800	broad.mit.edu	37	chr2	56599550	56599550	+	Silent	SNP	C	C	T																															aaaggctgggggtccagagcCcggcgggtcttgcagtggtg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:56599550C>T	ENST00000407595.2	+	4	1891	c.1389C>T	c.(1387-1389)gcC>gcT	p.A463A	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	463										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGTCCAGAGCCCGGCGGGTCT	0.517													6	6					0	0	0	0	T	56599550	C	T	56599550	2	4	328	1	0	0	0	0	0	0	0	1	2886	610	22	4		4	CCDC85A	2	56599550	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	56599550	186599823	340	58554	505	2									
REL	5966	broad.mit.edu	37	chr2	61149648	61149648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattgagtgactcctttcCatatgaattttttcaagtat	11	17	6	7	0	1	3	1	3	0	0	3	3	3	3	2	0	0	2	2	0	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:61149648C>T	ENST00000295025.7	+	11	2158	c.1838C>T	c.(1837-1839)cCa>cTa	p.P613L	REL_ENST00000394479.3_Missense_Mutation_p.P581L	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	613					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GACTCCTTTCCATATGAATTT	0.333			A		Hodgkin Lymphoma								7	27					0	0	0	0	T	61149648	C	T	61149648	3	4	328	1	0	0	0	0	1	0	0	0	13297	594	21	4	1880	4	REL	2	61149648	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4550098	61149648	182049725	341	58555											
VPS54	51542	broad.mit.edu	37	chr2	64141332	64141340	+	In_Frame_Del	DEL	AGACGAGTA	AGACGAGTA	-																															ataccttcaataaatctgacAgacgagtaagcatgtcagta																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:64141332_64141340delAGACGAGTA	ENST00000354504.3	-	14	2440_2448	c.1851_1859delTACTCGTCT	c.(1849-1860)ctg>ct	p.LTRL617del	VPS54_ENST00000409558.3_In_Frame_Del_p.LTRL758del|VPS54_ENST00000272322.4_In_Frame_Del_p.LTRL770del			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	770					protein transport|retrograde transport, endosome to Golgi			p.R772S(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TAAATCTGACAGACGAGTAAGCATGTCAG	0.335													14	70	---	---	---	---					-	64141340	AGACGAGTA	-	64141332	7	5	328	1	0	1	0	1	0	0	0	0	17312	188	7	0	643	0	VPS54	2	64141332	In_Frame_Del	DEL	AGACGAGTA	TCGA-CV-7568-01A-11D-2229-08	2991684	64141332	179058041	342	58556											
RAB1A	5861	broad.mit.edu	37	chr2	65315800	65315800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcactggtttccaaaaacgGaattccaagggaatcagcaa	16	7	9	9	1	1	0	1	0	0	0	3	2	3	2	2	3	3	3	2	3	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:65315800G>A	ENST00000409784.3	-	6	635	c.445C>T	c.(445-447)Ccg>Tcg	p.P149S	RAB1A_ENST00000409892.1_Missense_Mutation_p.P85S|RAB1A_ENST00000260638.8_Missense_Mutation_p.P73S|RAB1A_ENST00000409751.1_Missense_Mutation_p.P117S|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000356214.7_Missense_Mutation_p.P117S|RAB1A_ENST00000398529.3_Missense_Mutation_p.P73S	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN	RAB1A, member RAS oncogene family	149					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	GTP binding|GTPase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						TCCAAAAACGGAATTCCAAGG	0.393													6	6					0	0	0	0	A	65315800	G	A	65315800	3	1	328	1	0	0	0	0	1	0	0	0	12987	1174	41	2	176	2	RAB1A	2	65315800	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1174468	65315800	177883573	343	58557											
GKN1	56287	broad.mit.edu	37	chr2	69207908	69207908	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgctacacgaccagtgtaCtatggattgtggacatttcc	9	12	10	10	2	0	0	0	0	0	0	1	3	1	2	2	2	3	2	2	2	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:69207908C>T	ENST00000377938.2	+	6	616	c.553C>T	c.(553-555)Cta>Tta	p.L185L		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	185					digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						GACCAGTGTACTATGGATTGT	0.373													20	29					0	0	0	0	T	69207908	C	T	69207908	2	4	328	1	0	0	0	0	0	0	0	1	6475	564	20	4		4	GKN1	2	69207908	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3892108	69207908	173991465	344	58558											
MXD1	4084	broad.mit.edu	37	chr2	70162484	70162484	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcttgttttcatagaCgggctcatcttcgcttgtgc	4	17	11	9	2	4	1	2	0	2	1	5	1	4	1	0	2	1	3	0	2	1	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:70162484C>T	ENST00000264444.2	+	4	465	c.203_splice	c.e4-1	p.R69_splice	MXD1_ENST00000540449.1_Splice_Site_p.R59_splice	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	69					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TTTTCATAGACGGGCTCATCT	0.498													16	31					0	0	0	0	T	70162484	C	T	70162484	5	4	328	1	0	0	0	0	0	0	1	0	10069	550	19	1	219	1	MXD1	2	70162484	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	954576	70162484	173036889	345	58559											
ANKRD53	79998	broad.mit.edu	37	chr2	71206395	71206395	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggagctactaccagctgttCgcagcggctgtgggcaacgt	7	8	15	11	3	0	0	0	0	0	0	1	1	0	1	1	3	6	6	1	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:71206395C>T	ENST00000272421.6	+	2	605	c.339C>T	c.(337-339)ttC>ttT	p.F113F	ANKRD53_ENST00000360589.3_Silent_p.F113F|ANKRD53_ENST00000441349.1_Silent_p.F79F|ANKRD53_ENST00000457410.1_Silent_p.F79F|AC007040.11_ENST00000606025.1_Intron	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	113										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						ACCAGCTGTTCGCAGCGGCTG	0.637													53	68					0	0	0	0	T	71206395	C	T	71206395	2	4	328	1	0	0	0	0	0	0	0	1	678	883	31	1		1	ANKRD53	2	71206395	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1043911	71206395	171992978	346	58560											
DYSF	8291	broad.mit.edu	37	chr2	71838717	71838717	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcatcaggaacctccggaaGaaccccaactttgacatctg	12	8	8	13	1	3	2	2	1	1	1	4	4	4	4	4	2	3	0	4	2	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:71838717G>A	ENST00000258104.3	+	38	4405	c.4128G>A	c.(4126-4128)aaG>aaA	p.K1376K	DYSF_ENST00000409744.1_Silent_p.K1363K|DYSF_ENST00000409582.3_Silent_p.K1393K|DYSF_ENST00000429174.2_Silent_p.K1376K|DYSF_ENST00000394120.2_Silent_p.K1377K|DYSF_ENST00000409366.1_Silent_p.K1377K|DYSF_ENST00000410041.1_Silent_p.K1394K|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Silent_p.K1393K|DYSF_ENST00000409651.1_Silent_p.K1408K|DYSF_ENST00000410020.3_Silent_p.K1394K|DYSF_ENST00000413539.2_Silent_p.K1407K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1376						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCTCCGGAAGAACCCCAACT	0.572													10	30					0	0	0	0	A	71838717	G	A	71838717	2	1	328	1	0	0	0	0	0	0	0	1	4895	933	33	2		2	DYSF	2	71838717	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	632322	71838717	171360656	347	58561											
TET3	200424	broad.mit.edu	37	chr2	74320791	74320791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctacaatgggtgcaccGtggtaagcctgtgccctgtc	7	10	11	13	1	1	0	0	0	1	0	2	0	1	0	4	2	4	2	4	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:74320791G>A	ENST00000409262.3	+	7	2860	c.2860G>A	c.(2860-2862)Gtg>Atg	p.V954M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	954							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGGTGCACCGTGGTAAGCCT	0.627													22	37					0	0	0	0	A	74320791	G	A	74320791	3	1	328	1	0	0	0	0	1	0	0	0	15865	1145	40	1	2886	1	TET3	2	74320791	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2482074	74320791	168878582	348	58562											
TLX2	3196	broad.mit.edu	37	chr2	74742935	74742935	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagggcggcgctggccaaGgccttgcgcatgaccgacgc	7	4	17	13	5	0	2	0	1	0	1	0	4	0	2	3	4	1	2	3	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:74742935G>A	ENST00000233638.7	+	2	899	c.576G>A	c.(574-576)aaG>aaA	p.K192K		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	192						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						CGCTGGCCAAGGCCTTGCGCA	0.692													10	18					0	0	0	0	A	74742935	G	A	74742935	2	1	328	1	0	0	0	0	0	0	0	1	16055	991	35	4		4	TLX2	2	74742935	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	422144	74742935	168456438	349	58563											
DOK1	1796	broad.mit.edu	37	chr2	74783947	74783947	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctgcctcgggagcccaaGgatgcatggtggtgccaagc	8	7	15	11	1	1	0	0	0	1	0	2	3	1	2	3	4	5	1	3	4	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:74783947G>A	ENST00000233668.5	+	5	1821	c.1152G>A	c.(1150-1152)aaG>aaA	p.K384K	DOK1_ENST00000409429.1_Silent_p.K245K|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	384	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGGAGCCCAAGGATGCATGGT	0.607													42	72					0	0	0	0	A	74783947	G	A	74783947	2	1	328	1	0	0	0	0	0	0	0	1	4732	991	35	4		4	DOK1	2	74783947	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	41012	74783947	168415426	350	58564											
LRRTM4	80059	broad.mit.edu	37	chr2	77746081	77746081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatttccagacaatgtgatgGatattaatgatatccacgca	14	13	7	7	1	0	3	0	2	0	1	2	4	2	4	2	1	0	1	2	1	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:77746081G>A	ENST00000409088.3	-	3	1328	c.914C>T	c.(913-915)tCc>tTc	p.S305F	LRRTM4_ENST00000409282.1_Missense_Mutation_p.S306F|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S305F|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S306F|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S305F	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	305						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CAATGTGATGGATATTAATGA	0.353													11	16					0	0	0	0	A	77746081	G	A	77746081	3	1	328	1	0	0	0	0	1	0	0	0	9106	1174	41	2	872	2	LRRTM4	2	77746081	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2962134	77746081	165453292	351	58565											
LRRTM4	80059	broad.mit.edu	37	chr2	77746694	77746694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccttgaaatgcatcttcatCcactgagctaatgtaattat	12	14	5	10	0	2	2	1	2	1	0	3	2	3	2	2	0	2	3	2	0	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:77746694C>T	ENST00000409088.3	-	3	715	c.301G>A	c.(301-303)Gat>Aat	p.D101N	LRRTM4_ENST00000409282.1_Missense_Mutation_p.D102N|LRRTM4_ENST00000409884.1_Missense_Mutation_p.D101N|LRRTM4_ENST00000409911.1_Missense_Mutation_p.D102N|LRRTM4_ENST00000409093.1_Missense_Mutation_p.D101N	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	101						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCATCTTCATCCACTGAGCTA	0.373													17	45					0	0	0	0	T	77746694	C	T	77746694	3	4	328	1	0	0	0	0	1	0	0	0	9106	855	30	2	1485	2	LRRTM4	2	77746694	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	613	77746694	165452679	352	58566											
REG1A	5967	broad.mit.edu	37	chr2	79349131	79349131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctctattgccagaacatGaattcgggcaacctggtgtc	10	10	10	11	1	1	2	0	1	1	1	3	2	1	2	2	2	4	2	2	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:79349131G>A	ENST00000233735.1	+	4	304	c.201G>A	c.(199-201)atG>atA	p.M67I		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	67	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GCCAGAACATGAATTCGGGCA	0.512													37	81					0	0	0	0	A	79349131	G	A	79349131	3	1	328	1	0	0	0	0	1	0	0	0	13292	1290	45	2	211	2	REG1A	2	79349131	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1602437	79349131	163850242	353	58567											
LRRTM1	347730	broad.mit.edu	37	chr2	80530926	80530926	+	Missense_Mutation	SNP	C	C	T																															cagccagtatagacagagacCgagcagcaggaaatccatta																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:80530926C>T	ENST00000295057.3	-	2	675	c.19G>A	c.(19-21)Ggt>Agt	p.G7S	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.G7S|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	7						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGACAGAGACCGAGCAGCAGG	0.567										HNSCC(69;0.2)			22	34					0	0	0	0	T	80530926	C	T	80530926	3	4	328	1	0	0	0	0	1	0	0	0	9103	652	23	1	1553	1	LRRTM1	2	80530926	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1181795	80530926	162668447	354	58568	506	2									
LRRTM1	347730	broad.mit.edu	37	chr2	80530927	80530927	+	Silent	SNP	G	G	A																															agccagtatagacagagaccGagcagcaggaaatccattag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:80530927G>A	ENST00000295057.3	-	2	674	c.18C>T	c.(16-18)ctC>ctT	p.L6L	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.L6L|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	6						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GACAGAGACCGAGCAGCAGGA	0.567										HNSCC(69;0.2)			21	35					0	0	0	0	A	80530927	G	A	80530927	2	1	328	1	0	0	0	0	0	0	0	1	9103	1045	37	1		1	LRRTM1	2	80530927	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	80530927	162668446	355	58569	506	2									
CTNNA2	1496	broad.mit.edu	37	chr2	80646673	80646673	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaagagcggaaatgaaaagGaagtgaaagaatatgcccaa	21	4	11	5	1	0	4	0	2	0	2	0	6	0	6	1	2	2	0	1	2	9	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:80646673G>T	ENST00000466387.1	+	13	1961	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*	CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.E92*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E447*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E413*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	413					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.E413*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAATGAAAAGGAAGTGAAAGA	0.453													29	53					9.39395e-14	9.53377e-14	1	0	T	80646673	G	T	80646673	4	4	328	1	0	0	0	0	0	1	0	0	4045	1175	41	2	1059	2	CTNNA2	2	80646673	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	115746	80646673	162552700	356	58570											
TCF7L1	83439	broad.mit.edu	37	chr2	85536504	85536504	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggcctctcccccgtccttCcccgccacgctccatgccca	3	8	6	24	3	1	0	0	0	1	0	5	0	4	0	9	1	1	1	9	1	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:85536504C>T	ENST00000282111.3	+	12	1961	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	562					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCCCGTCCTTCCCCGCCACGC	0.701													25	40					0	0	0	0	T	85536504	C	T	85536504	2	4	328	1	0	0	0	0	0	0	0	1	15791	854	30	2		2	TCF7L1	2	85536504	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4889831	85536504	157662869	357	58571											
ST3GAL5	8869	broad.mit.edu	37	chr2	86071528	86071528	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacaaaaataccttatctcgGccccagaaccttgactgagg	14	8	7	12	1	1	3	0	2	1	1	2	3	1	3	4	2	3	0	4	2	6	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:86071528G>A	ENST00000377332.3	-	6	1107	c.999C>T	c.(997-999)ggC>ggT	p.G333G	ST3GAL5_ENST00000393808.3_Silent_p.G310G|ST3GAL5_ENST00000393805.1_Silent_p.G305G	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	333					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						CCTTATCTCGGCCCCAGAACC	0.428													23	29					0	0	0	0	A	86071528	G	A	86071528	2	1	328	1	0	0	0	0	0	0	0	1	15308	1190	42	4		4	ST3GAL5	2	86071528	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	535024	86071528	157127845	358	58572											
KRCC1	51315	broad.mit.edu	37	chr2	88327774	88327774	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtccctcgtgaactgacaGtagctcagagagtctagtct	10	10	10	11	1	3	3	1	2	2	1	5	4	4	3	1	0	2	2	1	0	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:88327774G>A	ENST00000347055.3	-	4	702	c.309C>T	c.(307-309)taC>taT	p.Y103Y		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	103										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TGAACTGACAGTAGCTCAGAG	0.433													37	56					0	0	0	0	A	88327774	G	A	88327774	2	1	328	1	0	0	0	0	0	0	0	1	8493	1024	36	4		4	KRCC1	2	88327774	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2256246	88327774	154871599	359	58573											
FABP1	2168	broad.mit.edu	37	chr2	88425817	88425817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcccattctgcacgatttCcgacacccccttgatatcct	7	13	4	17	2	1	1	0	1	1	0	4	3	4	1	5	0	1	1	5	0	1	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:88425817C>T	ENST00000393750.3	-	2	149	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	FABP1_ENST00000295834.3_Missense_Mutation_p.E40K|FABP1_ENST00000495375.1_5'UTR			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	40					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TGCACGATTTCCGACACCCCC	0.527													86	159					0	0	0	0	T	88425817	C	T	88425817	3	4	328	1	0	0	0	0	1	0	0	0	5396	864	30	2	277	2	FABP1	2	88425817	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	98043	88425817	154773556	360	58574											
TMEM127	55654	broad.mit.edu	37	chr2	96919664	96919664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgctcctcttcctctgtgGggtagtggcgcaggaggttg	3	12	15	11	1	2	0	0	0	2	0	4	1	4	1	3	5	1	4	3	5	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:96919664G>A	ENST00000258439.2	-	4	855	c.599C>T	c.(598-600)cCc>cTc	p.P200L	TMEM127_ENST00000435268.1_Missense_Mutation_p.P116L|TMEM127_ENST00000432959.1_Missense_Mutation_p.P200L	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	200					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						TTCCTCTGTGGGGTAGTGGCG	0.607													15	26					0	0	0	0	A	96919664	G	A	96919664	3	1	328	1	0	0	0	0	1	0	0	0	16134	1232	43	4	121	4	TMEM127	2	96919664	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	8493847	96919664	146279709	361	58575											
ARID5A	10865	broad.mit.edu	37	chr2	97217885	97217885	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccggcccacttcctggcCaccgcaggcccctcgcccat	4	7	8	22	3	0	0	0	0	0	0	3	0	2	0	8	3	0	1	8	3	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:97217885C>T	ENST00000454558.2	+	7	2593	c.1416C>T	c.(1414-1416)gcC>gcT	p.A472A	ARID5A_ENST00000357485.3_Silent_p.A540A			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	540					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTTCCTGGCCACCGCAGGCC	0.697													66	115					0	0	0	0	T	97217885	C	T	97217885	2	4	328	1	0	0	0	0	0	0	0	1	923	581	21	4		4	ARID5A	2	97217885	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	298221	97217885	145981488	362	58576											
TMEM131	23505	broad.mit.edu	37	chr2	98382961	98382961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttttgttttctgggcatttCgtgatttggatccacttgtc	4	20	9	8	1	1	1	0	1	1	0	4	2	2	2	1	2	0	2	1	2	0	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:98382961C>T	ENST00000186436.5	-	34	4781	c.4553G>A	c.(4552-4554)cGa>cAa	p.R1518Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1518						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTGGGCATTTCGTGATTTGGA	0.388													28	38					0	0	0	0	T	98382961	C	T	98382961	3	4	328	1	0	0	0	0	1	0	0	0	16138	884	31	1	1130	1	TMEM131	2	98382961	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1165076	98382961	144816412	363	58577											
CNGA3	1261	broad.mit.edu	37	chr2	98994154	98994154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctgatttcctagagccCactcgtcaagtgaggagaca	12	10	9	10	1	2	4	1	2	1	2	4	5	3	4	2	1	1	0	2	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:98994154C>T	ENST00000393504.1	+	3	523	c.106C>T	c.(106-108)Cac>Tac	p.H36Y	CNGA3_ENST00000436404.2_Missense_Mutation_p.H36Y|CNGA3_ENST00000272602.2_Missense_Mutation_p.H36Y|CNGA3_ENST00000409937.1_5'UTR	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	36					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCCTAGAGCCCACTCGTCAAG	0.567													6	12					0	0	0	0	T	98994154	C	T	98994154	3	4	328	1	0	0	0	0	1	0	0	0	3628	594	21	4	112	4	CNGA3	2	98994154	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	611193	98994154	144205219	364	58578											
CNGA3	1261	broad.mit.edu	37	chr2	99013661	99013661	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagggtggtggggacaagccCctggctgatggggaagttcc	8	7	18	8	0	0	1	0	1	0	0	1	3	1	3	3	7	1	2	3	7	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:99013661C>T	ENST00000393504.1	+	8	2445	c.2028C>T	c.(2026-2028)ccC>ccT	p.P676P	CNGA3_ENST00000436404.2_Silent_p.P658P|CNGA3_ENST00000272602.2_Silent_p.P676P|CNGA3_ENST00000409937.1_Silent_p.P680P	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	676					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGACAAGCCCCTGGCTGATG	0.557													17	29					0	0	0	0	T	99013661	C	T	99013661	2	4	328	1	0	0	0	0	0	0	0	1	3628	610	22	4		4	CNGA3	2	99013661	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	19507	99013661	144185712	365	58579											
TSGA10	80705	broad.mit.edu	37	chr2	99681424	99681424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctcaacctctctgttgaggGaatctactttttcttttaat	8	18	6	9	0	4	1	1	1	3	0	5	2	4	2	1	1	2	2	1	1	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:99681424G>A	ENST00000393483.3	-	16	2226	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	TSGA10_ENST00000355053.4_Missense_Mutation_p.S461F|TSGA10_ENST00000410001.1_Missense_Mutation_p.S461F|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.S461F	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	461					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCTGTTGAGGGAATCTACTTT	0.358													24	23					0	0	0	0	A	99681424	G	A	99681424	3	1	328	1	0	0	0	0	1	0	0	0	16712	1174	41	2	738	2	TSGA10	2	99681424	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	667763	99681424	143517949	366	58580											
AFF3	3899	broad.mit.edu	37	chr2	100623133	100623133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacttggagagcttggcCttggctctggcaggctccgg	5	10	15	11	1	1	2	0	1	1	1	2	3	2	2	2	6	2	4	2	6	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:100623133C>T	ENST00000317233.4	-	6	1069	c.834G>A	c.(832-834)aaG>aaA	p.K278K	AFF3_ENST00000356421.2_Silent_p.K303K|AFF3_ENST00000409579.1_Silent_p.K303K|AFF3_ENST00000409236.1_Silent_p.K278K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	278					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGAGCTTGGCCTTGGCTCTGG	0.542													29	32					0	0	0	0	T	100623133	C	T	100623133	2	4	328	1	0	0	0	0	0	0	0	1	358	680	24	4		4	AFF3	2	100623133	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	941709	100623133	142576240	367	58581											
LONRF2	164832	broad.mit.edu	37	chr2	100910724	100910724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagataaacacatgccaaacCgcttggtgccagtttccatg	12	9	8	12	1	0	1	0	0	0	1	1	1	1	1	4	1	4	2	4	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:100910724C>T	ENST00000393437.3	-	9	2363	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q	LONRF2_ENST00000409647.1_Missense_Mutation_p.R332Q	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	575	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CATGCCAAACCGCTTGGTGCC	0.502													22	46					0	0	0	0	T	100910724	C	T	100910724	3	4	328	1	0	0	0	0	1	0	0	0	8959	652	23	1	556	1	LONRF2	2	100910724	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	287591	100910724	142288649	368	58582											
IL1RL1	9173	broad.mit.edu	37	chr2	102959584	102959584	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcagcttaatggaacaaaAattacagactttggtgaacc	15	10	9	7	0	0	2	0	1	0	1	0	3	0	3	1	3	4	2	1	3	6	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:102959584A>C	ENST00000311734.2	+	7	1110	c.771A>C	c.(769-771)aaA>aaC	p.K257N	IL1RL1_ENST00000409584.1_Missense_Mutation_p.K243N|IL1RL1_ENST00000404917.2_Missense_Mutation_p.K140N|IL1RL1_ENST00000233954.1_Missense_Mutation_p.K257N			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	257	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATGGAACAAAAATTACAGACT	0.423													41	68					0	0	0	0	C	102959584	A	C	102959584	3	2	328	1	0	0	0	0	1	0	0	0	7716	11	1	5	793	5	IL1RL1	2	102959584	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	2048860	102959584	140239789	369	58583											
IL18RAP	8807	broad.mit.edu	37	chr2	103067347	103067347	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcgtatcctatgcaaaatGgagctcttttccaagtgagg	10	14	9	8	1	1	1	0	1	1	0	4	2	3	2	2	2	2	3	2	2	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:103067347G>A	ENST00000264260.2	+	11	1839	c.1250G>A	c.(1249-1251)tGg>tAg	p.W417*	IL18RAP_ENST00000409369.1_Nonsense_Mutation_p.W275*	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	417	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TATGCAAAATGGAGCTCTTTT	0.343													36	59					0	0	0	0	A	103067347	G	A	103067347	4	1	328	1	0	0	0	0	0	1	0	0	7701	1357	47	4	1284	4	IL18RAP	2	103067347	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	107763	103067347	140132026	370	58584											
IL18RAP	8807	broad.mit.edu	37	chr2	103068477	103068477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagaggcttaaaatcagttCctcccaattctaggttctgg	10	12	10	9	0	3	1	1	0	2	1	5	2	5	1	2	4	0	3	2	4	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:103068477C>T	ENST00000264260.2	+	12	2225	c.1636C>T	c.(1636-1638)Cct>Tct	p.P546S	IL18RAP_ENST00000409369.1_Missense_Mutation_p.P404S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	546	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAAATCAGTTCCTCCCAATTC	0.453													60	84					0	0	0	0	T	103068477	C	T	103068477	3	4	328	1	0	0	0	0	1	0	0	0	7701	855	30	2	1674	2	IL18RAP	2	103068477	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1130	103068477	140130896	371	58585											
RGPD4	285190	broad.mit.edu	37	chr2	108488496	108488496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctttacctgatctagttGaagtatccagtggtgaggaa	10	14	10	7	0	1	3	0	3	1	0	3	4	3	4	3	2	1	2	3	2	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:108488496G>A	ENST00000408999.3	+	20	4113	c.4036G>A	c.(4036-4038)Gaa>Aaa	p.E1346K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1346K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1346	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGATCTAGTTGAAGTATCCAG	0.398													107	163					0	0	0	0	A	108488496	G	A	108488496	3	1	328	1	0	0	0	0	1	0	0	0	13370	1291	45	2	4114	2	RGPD4	2	108488496	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5420019	108488496	134710877	372	58586											
SULT1C3	442038	broad.mit.edu	37	chr2	108881362	108881362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgaataaaatcatctatCacacctcctttgatgtaatg	13	15	4	9	0	4	2	2	2	2	0	5	2	5	2	2	0	0	1	2	0	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:108881362C>T	ENST00000329106.2	+	6	703	c.703C>T	c.(703-705)Cac>Tac	p.H235Y		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	235						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AATCATCTATCACACCTCCTT	0.418													32	46					0	0	0	0	T	108881362	C	T	108881362	3	4	328	1	0	0	0	0	1	0	0	0	15468	826	29	2	725	2	SULT1C3	2	108881362	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	392866	108881362	134318011	373	58587											
RANBP2	5903	broad.mit.edu	37	chr2	109399034	109399034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagatttaaaactaaagaaGtagctgattgtttcaagaaa	18	12	8	3	0	1	4	1	2	0	3	1	5	1	4	0	0	2	3	0	0	8	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:109399034G>T	ENST00000283195.6	+	28	9211	c.9085G>T	c.(9085-9087)Gta>Tta	p.V3029L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3029	RanBD1 4.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AACTAAAGAAGTAGCTGATTG	0.383													21	27					8.10497e-08	8.16116e-08	1	0	T	109399034	G	T	109399034	3	4	328	1	0	0	0	0	1	0	0	0	13110	1029	36	4	9195	4	RANBP2	2	109399034	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	517672	109399034	133800339	374	58588											
SH3RF3	344558	broad.mit.edu	37	chr2	109964286	109964286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acggcacacagggcttcctcCcagccagctatatccagtgc	9	7	9	16	1	0	0	0	0	0	0	3	0	3	0	4	2	3	3	4	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:109964286C>T	ENST00000309415.6	+	2	730	c.730C>T	c.(730-732)Cca>Tca	p.P244S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	244	SH3 1.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGGCTTCCTCCCAGCCAGCTA	0.567													7	19					0	0	0	0	T	109964286	C	T	109964286	3	4	328	1	0	0	0	0	1	0	0	0	14348	623	22	4	736	4	SH3RF3	2	109964286	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	565252	109964286	133235087	375	58589											
IL1RN	3557	broad.mit.edu	37	chr2	113885246	113885246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtcacctaatcactctcctCctcttcctgttccattcaga	8	14	3	16	0	5	1	3	0	2	1	9	1	8	1	5	0	0	1	5	0	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:113885246C>T	ENST00000409930.3	+	1	109	c.45C>T	c.(43-45)ctC>ctT	p.L15L	IL1RN_ENST00000259206.5_Intron|IL1RN_ENST00000361779.3_Intron|IL1RN_ENST00000409052.1_Intron|IL1RN_ENST00000354115.2_Intron	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	15					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	TCACTCTCCTCCTCTTCCTGT	0.537									Lichen Sclerosis et Atrophicus, Familial Clustering of				20	33					0	0	0	0	T	113885246	C	T	113885246	2	4	328	1	0	0	0	0	0	0	0	1	7718	842	30	2		2	IL1RN	2	113885246	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3920960	113885246	129314127	376	58590											
DPP10	57628	broad.mit.edu	37	chr2	116510843	116510843	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatctccatcctcacagtCtgtgagaccactacaggtgc	11	9	7	14	0	3	1	1	1	2	1	5	2	4	1	3	1	3	0	3	1	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:116510843C>T	ENST00000410059.1	+	11	1524	c.1044C>T	c.(1042-1044)gtC>gtT	p.V348V	DPP10_ENST00000310323.8_Silent_p.V341V|DPP10_ENST00000409163.1_Silent_p.V298V|DPP10_ENST00000393147.2_Silent_p.V352V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	348					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCCTCACAGTCTGTGAGACCA	0.373													20	32					0	0	0	0	T	116510843	C	T	116510843	2	4	328	1	0	0	0	0	0	0	0	1	4763	900	32	2		2	DPP10	2	116510843	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2625597	116510843	126688530	377	58591											
DPP10	57628	broad.mit.edu	37	chr2	116598334	116598334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatttcttgcagcaaaagttCatttccaacactcagcagaa	14	11	6	10	0	3	1	2	0	1	1	4	2	4	1	1	0	4	4	1	0	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:116598334C>T	ENST00000410059.1	+	25	2671	c.2191C>T	c.(2191-2193)Cat>Tat	p.H731Y	DPP10_ENST00000310323.8_Missense_Mutation_p.H724Y|DPP10_ENST00000409163.1_Missense_Mutation_p.H681Y|DPP10_ENST00000393147.2_Missense_Mutation_p.H735Y	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	731					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCAAAAGTTCATTTCCAACA	0.323													22	29					0	0	0	0	T	116598334	C	T	116598334	3	4	328	1	0	0	0	0	1	0	0	0	4763	826	29	2	2460	2	DPP10	2	116598334	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	87491	116598334	126601039	378	58592											
GLI2	2736	broad.mit.edu	37	chr2	121742133	121742133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgtgaaaacggtccacggCccagatgcccacgtcaccaa	12	5	9	15	3	1	2	1	1	0	1	2	2	2	2	4	2	2	0	4	2	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:121742133C>T	ENST00000452319.1	+	12	1830	c.1770C>T	c.(1768-1770)ggC>ggT	p.G590G	GLI2_ENST00000314490.11_Silent_p.G262G|GLI2_ENST00000361492.4_Silent_p.G590G|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	590					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)				CGGTCCACGGCCCAGATGCCC	0.602													69	76					0	0	0	0	T	121742133	C	T	121742133	2	4	328	1	0	0	0	0	0	0	0	1	6489	726	26	4		4	GLI2	2	121742133	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5143799	121742133	121457240	379	58593											
CLASP1	23332	broad.mit.edu	37	chr2	122104659	122104659	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaggtttcaggtcttctccGattacggaataaattgccac	10	13	9	9	2	3	1	1	1	2	0	4	3	3	2	2	3	2	1	2	3	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:122104659G>A	ENST00000263710.4	-	39	4874	c.4485C>T	c.(4483-4485)atC>atT	p.I1495I	CLASP1_ENST00000545861.1_Silent_p.I1202I|CLASP1_ENST00000455322.2_Silent_p.I1451I|CLASP1_ENST00000397587.3_Silent_p.I1435I|CLASP1_ENST00000541859.1_Silent_p.I1212I|CLASP1_ENST00000409078.3_Silent_p.I1428I|CLASP1_ENST00000541377.1_Silent_p.I1434I	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1495	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGTCTTCTCCGATTACGGAAT	0.502													3	7					0	0	0	0	A	122104659	G	A	122104659	2	1	328	1	0	0	0	0	0	0	0	1	3484	1048	37	1		1	CLASP1	2	122104659	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	362526	122104659	121094714	380	58594											
CLASP1	23332	broad.mit.edu	37	chr2	122125366	122125366	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctacttcactacccccccgGccctcagtggcaggggaggc	6	7	11	17	1	3	0	2	0	1	0	3	1	3	1	4	5	2	1	4	5	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:122125366G>A	ENST00000263710.4	-	35	4073	c.3684C>T	c.(3682-3684)ggC>ggT	p.G1228G	CLASP1_ENST00000545861.1_Silent_p.G935G|CLASP1_ENST00000455322.2_Silent_p.G1184G|CLASP1_ENST00000397587.3_Silent_p.G1168G|CLASP1_ENST00000541859.1_Silent_p.G945G|CLASP1_ENST00000409078.3_Silent_p.G1161G|CLASP1_ENST00000541377.1_Silent_p.G1167G	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1228					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TACCCCCCCGGCCCTCAGTGG	0.632													17	40					0	0	0	0	A	122125366	G	A	122125366	2	1	328	1	0	0	0	0	0	0	0	1	3484	1190	42	4		4	CLASP1	2	122125366	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	20707	122125366	121074007	381	58595											
BIN1	274	broad.mit.edu	37	chr2	127825806	127825806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccttggcaccactgggggGcggctttctcaagcagcgag	6	8	15	12	2	1	0	1	0	1	0	2	1	1	0	2	5	3	3	2	5	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:127825806G>A	ENST00000316724.5	-	7	956	c.545C>T	c.(544-546)gCc>gTc	p.A182V	BIN1_ENST00000409400.1_Intron|BIN1_ENST00000351659.3_Missense_Mutation_p.A182V|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000357970.3_Missense_Mutation_p.A182V|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000346226.3_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	182	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCACTGGGGGGCGGCTTTCTC	0.577											OREG0014963	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	13					0	0	0	0	A	127825806	G	A	127825806	3	1	328	1	0	0	0	0	1	0	0	0	1437	1203	42	4	1337	4	BIN1	2	127825806	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5700440	127825806	115373567	382	58596											
MYO7B	4648	broad.mit.edu	37	chr2	128324382	128324382	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcatgaagaggaacaagagGgaccagtgctgcatcatcag	15	5	13	8	0	2	3	2	1	0	2	2	5	2	5	1	2	4	3	1	2	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:128324382G>A	ENST00000389524.4	+	5	503	c.450G>A	c.(448-450)agG>agA	p.R150R	MYO7B_ENST00000428314.1_Silent_p.R150R|MYO7B_ENST00000409816.2_Silent_p.R150R			Q6PIF6	MYO7B_HUMAN	myosin VIIB	150	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAACAAGAGGGACCAGTGCT	0.587													11	16					0	0	0	0	A	128324382	G	A	128324382	2	1	328	1	0	0	0	0	0	0	0	1	10153	1223	43	4		4	MYO7B	2	128324382	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	498576	128324382	114874991	383	58597											
LIMS2	55679	broad.mit.edu	37	chr2	128415076	128415076	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgacaatgcgctcggcGggggagaagcgggcctggca	7	6	18	10	4	0	2	0	1	0	1	1	3	0	2	1	5	2	3	1	5	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:128415076G>A	ENST00000409455.1	-	2	692	c.57C>T	c.(55-57)ccC>ccT	p.P19P	LIMS2_ENST00000409808.2_Silent_p.P19P|LIMS2_ENST00000324938.5_Silent_p.P48P|LIMS2_ENST00000410011.1_Silent_p.P19P|LIMS2_ENST00000355119.4_Silent_p.P24P|LIMS2_ENST00000545738.2_Silent_p.P46P			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	24	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		TGCGCTCGGCGGGGGAGAAGC	0.637													53	62					0	0	0	0	A	128415076	G	A	128415076	2	1	328	1	0	0	0	0	0	0	0	1	8858	1103	39	1		1	LIMS2	2	128415076	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	90694	128415076	114784297	384	58598											
PTPN18	26469	broad.mit.edu	37	chr2	131117186	131117186	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accctccttgtctaggtgatCctgatggcctgtcgagagat	7	12	11	11	1	1	3	0	2	1	1	4	5	3	3	4	2	0	0	4	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:131117186C>T	ENST00000175756.5	+	5	482	c.381C>T	c.(379-381)atC>atT	p.I127I	PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	127	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TCTAGGTGATCCTGATGGCCT	0.587													8	30					0	0	0	0	T	131117186	C	T	131117186	2	4	328	1	0	0	0	0	0	0	0	1	12864	845	30	2		2	PTPN18	2	131117186	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2702110	131117186	112082187	385	58599											
POTEE	445582	broad.mit.edu	37	chr2	132021425	132021425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcgtgtggctcccgaGgagcaccccatcctgctgac	6	7	13	15	2	0	1	0	1	0	0	2	4	2	2	4	2	4	4	4	2	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:132021425G>A	ENST00000356920.5	+	15	2491	c.2397G>A	c.(2395-2397)gaG>gaA	p.E799E	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	799	Actin-like.						ATP binding										TGGCTCCCGAGGAGCACCCCA	0.582													61	109					0	0	0	0	A	132021425	G	A	132021425	2	1	328	1	0	0	0	0	0	0	0	1	12336	991	35	4		4	POTEE	2	132021425	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	904239	132021425	111177948	386	58600											
GPR39	2863	broad.mit.edu	37	chr2	133403028	133403028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgccagtcctctgcaaggaGaactgagaagattttcttaa	12	10	10	9	1	2	3	0	1	2	3	3	5	3	3	2	1	2	1	2	1	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:133403028G>A	ENST00000329321.3	+	2	1680	c.1211G>A	c.(1210-1212)aGa>aAa	p.R404K	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	404						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTGCAAGGAGAACTGAGAAG	0.602													18	53					0	0	0	0	A	133403028	G	A	133403028	3	1	328	1	0	0	0	0	1	0	0	0	6742	942	33	2	1217	2	GPR39	2	133403028	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1381603	133403028	109796345	387	58601											
NCKAP5	344148	broad.mit.edu	37	chr2	133486462	133486462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccattgggtcttcagcatatCcgaatgatgagcatgtctga	10	12	10	9	1	3	3	1	3	2	0	4	4	4	3	2	1	2	2	2	1	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:133486462C>T	ENST00000409261.1	-	18	5880	c.5507G>A	c.(5506-5508)gGa>gAa	p.G1836E	NCKAP5_ENST00000409213.1_Missense_Mutation_p.G517E|NCKAP5_ENST00000405974.3_Missense_Mutation_p.G517E|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1836E	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1836							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCAGCATATCCGAATGATGA	0.542													89	137					0	0	0	0	T	133486462	C	T	133486462	3	4	328	1	0	0	0	0	1	0	0	0	10293	855	30	2	234	2	NCKAP5	2	133486462	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	83434	133486462	109712911	388	58602											
NCKAP5	344148	broad.mit.edu	37	chr2	133540565	133540565	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtactgaagctgtggctgcgGgctttggcgccattcatacc	6	11	13	11	2	1	1	1	1	0	0	1	1	1	1	2	3	4	4	2	3	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:133540565G>A	ENST00000409261.1	-	14	4192	c.3819C>T	c.(3817-3819)gcC>gcT	p.A1273A	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.A1273A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1273							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGTGGCTGCGGGCTTTGGCGC	0.532													39	66					0	0	0	0	A	133540565	G	A	133540565	2	1	328	1	0	0	0	0	0	0	0	1	10293	1219	43	4		4	NCKAP5	2	133540565	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	54103	133540565	109658808	389	58603											
LRP1B	53353	broad.mit.edu	37	chr2	140997101	140997101	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcacaatgatggcaatgcttCctggaaaataaatgagtgaa	16	9	10	6	0	0	3	0	3	0	0	1	4	1	4	1	2	1	3	1	2	7	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:140997101C>T	ENST00000389484.3	-	88	14296	c.13324_splice	c.e88-1	p.R4442_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4442					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCAATGCTTCCTGGAaaata	0.313										TSP Lung(27;0.18)			7	13					0	0	0	0	T	140997101	C	T	140997101	5	4	328	1	0	0	0	0	0	0	1	0	9019	869	30	2	490	2	LRP1B	2	140997101	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7456536	140997101	102202272	390	58604											
LRP1B	53353	broad.mit.edu	37	chr2	141055433	141055433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtggcagtaaggctggtttCcagcagtcacaatgcaggtt	10	10	13	8	0	1	0	1	0	0	0	2	0	2	0	1	4	2	7	1	4	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:141055433C>T	ENST00000389484.3	-	84	13882	c.12911G>A	c.(12910-12912)gGa>gAa	p.G4304E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4304	EGF-like 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGCTGGTTTCCAGCAGTCAC	0.498										TSP Lung(27;0.18)			61	101					0	0	0	0	T	141055433	C	T	141055433	3	4	328	1	0	0	0	0	1	0	0	0	9019	855	30	2	920	2	LRP1B	2	141055433	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	58332	141055433	102143940	391	58605											
LRP1B	53353	broad.mit.edu	37	chr2	141243018	141243018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttcaatgattcttttttCtgtgtcagaccaatagaggt	10	17	7	7	0	4	3	2	1	2	2	4	3	4	3	1	1	1	0	1	1	4	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:141243018C>T	ENST00000389484.3	-	59	10290	c.9319G>A	c.(9319-9321)Gaa>Aaa	p.E3107K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3107					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTCTTTTTTCTGTGTCAGAC	0.393										TSP Lung(27;0.18)			18	41					0	0	0	0	T	141243018	C	T	141243018	3	4	328	1	0	0	0	0	1	0	0	0	9019	922	32	2	4612	2	LRP1B	2	141243018	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	187585	141243018	101956355	392	58606											
LRP1B	53353	broad.mit.edu	37	chr2	141459360	141459360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccggttctcatggttatCgtttctgtggcatcattctt	5	17	10	9	2	4	0	2	0	3	0	6	0	4	0	1	4	0	4	1	4	1	5	rs139951414	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:141459360C>T	ENST00000389484.3	-	40	7328	c.6357G>A	c.(6355-6357)acG>acA	p.T2119T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2119					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATGGTTATCGTTTCTGTGG	0.413										TSP Lung(27;0.18)			24	52					0	0	0	0	T	141459360	C	T	141459360	2	4	328	1	0	0	0	0	0	0	0	1	9019	871	31	1		1	LRP1B	2	141459360	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	216342	141459360	101740013	393	58607											
LRP1B	53353	broad.mit.edu	37	chr2	141747122	141747122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgcaagtttgattggattCatcttcattgctcccacagt	8	16	8	9	0	3	1	2	1	1	0	4	2	4	2	1	1	2	3	1	1	1	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:141747122C>T	ENST00000389484.3	-	17	3720	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	917	LDL-receptor class A 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATTGGATTCATCTTCATTG	0.388										TSP Lung(27;0.18)			33	28					0	0	0	0	T	141747122	C	T	141747122	3	4	328	1	0	0	0	0	1	0	0	0	9019	835	29	2	11350	2	LRP1B	2	141747122	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	287762	141747122	101452251	394	58608											
ARHGAP15	55843	broad.mit.edu	37	chr2	144194581	144194581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actacgacagtgatataaaaGaacagaaaccagagcacaga	21	4	8	8	1	0	5	0	1	0	4	0	6	0	5	1	0	4	1	1	0	6	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:144194581G>A	ENST00000295095.6	+	8	840	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000442794.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	225					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGATATAAAAGAACAGAAACC	0.338													16	28					0	0	0	0	A	144194581	G	A	144194581	3	1	328	1	0	0	0	0	1	0	0	0	868	943	33	2	699	2	ARHGAP15	2	144194581	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2447459	144194581	99004792	395	58609											
NEB	4703	broad.mit.edu	37	chr2	152497159	152497159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtggccgagctgcttacGatagccttctttgtacttga	6	14	12	9	2	1	1	0	1	1	0	1	3	1	1	2	2	5	3	2	2	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:152497159G>A	ENST00000427231.2	-	61	8597	c.8395C>T	c.(8395-8397)Cgt>Tgt	p.R2799C	NEB_ENST00000604864.1_Missense_Mutation_p.R2799C|NEB_ENST00000603639.1_Missense_Mutation_p.R2799C|NEB_ENST00000172853.10_Missense_Mutation_p.R2799C|NEB_ENST00000397345.3_Missense_Mutation_p.R2799C|NEB_ENST00000409198.1_Missense_Mutation_p.R2799C	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2799					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCTGCTTACGATAGCCTTCT	0.433													43	81					0	0	0	0	A	152497159	G	A	152497159	3	1	328	1	0	0	0	0	1	0	0	0	10372	1058	37	1	17779	1	NEB	2	152497159	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	8302578	152497159	90702214	396	58610											
ERMN	57471	broad.mit.edu	37	chr2	158177885	158177885	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatctggaataagcatttctGgagatatcactcttcttccc	10	15	6	10	0	5	1	1	0	4	1	6	3	6	2	1	2	1	1	1	2	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:158177885G>A	ENST00000410096.1	-	3	1044	c.753C>T	c.(751-753)tcC>tcT	p.S251S	ERMN_ENST00000397283.2_Silent_p.S264S|ERMN_ENST00000420719.2_Silent_p.S231S|ERMN_ENST00000535935.1_Silent_p.S145S	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	251						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AAGCATTTCTGGAGATATCAC	0.428													52	96					0	0	0	0	A	158177885	G	A	158177885	2	1	328	1	0	0	0	0	0	0	0	1	5273	1335	47	4		4	ERMN	2	158177885	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5680726	158177885	85021488	397	58611											
TANC1	85461	broad.mit.edu	37	chr2	160086254	160086254	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctccactcaacgactcCgagaacgaagaggacacccc	13	3	8	17	3	1	2	1	0	0	2	3	6	3	3	5	1	3	1	5	1	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:160086254C>T	ENST00000263635.6	+	27	4554	c.4317C>T	c.(4315-4317)tcC>tcT	p.S1439S	TANC1_ENST00000454300.1_Silent_p.S1333S	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1439						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCAACGACTCCGAGAACGAAG	0.537													42	67					0	0	0	0	T	160086254	C	T	160086254	2	4	328	1	0	0	0	0	0	0	0	1	15635	639	23	1		1	TANC1	2	160086254	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1908369	160086254	83113119	398	58612											
PLA2R1	22925	broad.mit.edu	37	chr2	160807911	160807911	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggttgaggacaacagtgagGaaggactggtgatactggtc	11	8	16	6	1	0	3	0	3	0	0	1	6	0	6	0	6	2	1	0	6	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:160807911G>A	ENST00000283243.7	-	24	3686	c.3480C>T	c.(3478-3480)ttC>ttT	p.F1160F	PLA2R1_ENST00000392771.1_Silent_p.F1160F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1160	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CAACAGTGAGGAAGGACTGGT	0.433													34	63					0	0	0	0	A	160807911	G	A	160807911	2	1	328	1	0	0	0	0	0	0	0	1	12082	1165	41	2		2	PLA2R1	2	160807911	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	721657	160807911	82391462	399	58613											
DPP4	1803	broad.mit.edu	37	chr2	162903514	162903514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtttgtagagatattcatGatctaaagagagaaaacacc	16	12	8	5	0	2	4	1	1	1	3	2	6	2	4	1	0	1	2	1	0	6	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:162903514G>A	ENST00000360534.3	-	4	756	c.196C>T	c.(196-198)Cat>Tat	p.H66Y		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	66					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	AGATATTCATGATCTAAAGAG	0.294													15	22					0	0	0	0	A	162903514	G	A	162903514	3	1	328	1	0	0	0	0	1	0	0	0	4765	1290	45	2	2196	2	DPP4	2	162903514	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2095603	162903514	80295859	400	58614											
SCN2A	6326	broad.mit.edu	37	chr2	166210777	166210777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgccactgatgatgataacGaaatgaataatctccagatt	15	11	7	8	1	1	5	0	4	1	1	2	6	1	5	2	0	2	0	2	0	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:166210777G>A	ENST00000375437.2	+	17	3285	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	SCN2A_ENST00000375427.2_Missense_Mutation_p.E999K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E999K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E999K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	999					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E999K(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGATGATAACGAAATGAATAA	0.388													85	139					0	0	0	0	A	166210777	G	A	166210777	3	1	328	1	0	0	0	0	1	0	0	0	14003	1059	37	1	3153	1	SCN2A	2	166210777	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3307263	166210777	76988596	401	58615											
CSRNP3	80034	broad.mit.edu	37	chr2	166533061	166533061	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggactgtggctgtgactgCcgagtgttctgtgatccaga	7	11	15	8	1	1	3	0	2	1	1	2	6	2	4	2	2	1	2	2	2	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:166533061C>T	ENST00000314499.7	+	6	1024	c.648C>T	c.(646-648)tgC>tgT	p.C216C	CSRNP3_ENST00000409420.1_Silent_p.C248C|CSRNP3_ENST00000342316.4_Silent_p.C216C	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	216	Cys-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCTGTGACTGCCGAGTGTTCT	0.547													30	57					0	0	0	0	T	166533061	C	T	166533061	2	4	328	1	0	0	0	0	0	0	0	1	3997	747	26	4		4	CSRNP3	2	166533061	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	322284	166533061	76666312	402	58616											
SCN1A	6323	broad.mit.edu	37	chr2	166872124	166872124	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttttctttaccttcagtGaaacaagcttctggttcaag	9	17	6	9	0	5	1	2	1	3	0	5	1	5	1	1	1	3	2	1	1	4	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:166872124G>A	ENST00000423058.2	-	17	3560	c.3543C>T	c.(3541-3543)ttC>ttT	p.F1181F	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F1153F|SCN1A_ENST00000375405.3_Silent_p.F1170F|SCN1A_ENST00000303395.4_Silent_p.F1181F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1181						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TACCTTCAGTGAAACAAGCTT	0.413													28	73					0	0	0	0	A	166872124	G	A	166872124	2	1	328	1	0	0	0	0	0	0	0	1	14001	1281	45	2		2	SCN1A	2	166872124	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	339063	166872124	76327249	403	58617											
SCN7A	6332	broad.mit.edu	37	chr2	167301368	167301368	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaattatgcatatgataagGaaaagatcagtaaatggtgc	19	10	9	3	0	1	2	1	1	0	1	1	3	1	3	0	2	2	2	0	2	9	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:167301368G>A	ENST00000409855.1	-	12	1656	c.1530C>T	c.(1528-1530)ttC>ttT	p.F510F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	510					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATATGATAAGGAAAAGATCAG	0.333													7	13					0	0	0	0	A	167301368	G	A	167301368	2	1	328	1	0	0	0	0	0	0	0	1	14010	1165	41	2		2	SCN7A	2	167301368	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	429244	167301368	75898005	404	58618											
XIRP2	129446	broad.mit.edu	37	chr2	168100278	168100278	+	Silent	SNP	C	C	T																															atcacagaaattaaagttgtCcgaggaatatccatggaaga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:168100278C>T	ENST00000409195.1	+	9	2465	c.2376C>T	c.(2374-2376)gtC>gtT	p.V792V	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V570V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V792V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	617					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						TTAAAGTTGTCCGAGGAATAT	0.408													24	47					0	0	0	0	T	168100278	C	T	168100278	2	4	328	1	0	0	0	0	0	0	0	1	17526	842	30	2		2	XIRP2	2	168100278	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	798910	168100278	75099095	405	58619	507	2									
XIRP2	129446	broad.mit.edu	37	chr2	168100279	168100279	+	Nonsense_Mutation	SNP	C	C	T																															tcacagaaattaaagttgtcCgaggaatatccatggaagaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:168100279C>T	ENST00000409195.1	+	9	2466	c.2377C>T	c.(2377-2379)Cga>Tga	p.R793*	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.R571*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.R793*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	618					actin cytoskeleton organization	cell junction	actin binding	p.R793*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAGTTGTCCGAGGAATATC	0.403													24	48					0	0	0	0	T	168100279	C	T	168100279	4	4	328	1	0	0	0	0	0	1	0	0	17526	644	23	1	2407	1	XIRP2	2	168100279	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	168100279	75099094	406	58620	507	2									
XIRP2	129446	broad.mit.edu	37	chr2	168115396	168115396	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtactagcaatggctctGaagaaacagactgacagagc	16	7	10	8	0	1	5	0	2	1	3	1	5	1	5	0	1	4	3	0	1	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:168115396G>A	ENST00000409728.1	+	11	2528	c.2439G>A	c.(2437-2439)ctG>ctA	p.L813L	XIRP2_ENST00000409605.1_Silent_p.L558L|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Silent_p.L780L|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Silent_p.L813L|XIRP2_ENST00000409756.2_Silent_p.L780L	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	102					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						CAATGGCTCTGAAGAAACAGA	0.428													12	25					0	0	0	0	A	168115396	G	A	168115396	2	1	328	1	0	0	0	0	0	0	0	1	17526	1277	45	2		2	XIRP2	2	168115396	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	15117	168115396	75083977	407	58621											
XIRP2	129446	broad.mit.edu	37	chr2	168115530	168115530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaatctcttaaacattaaagGaagccattcaaagagcaaaa	21	8	5	7	0	2	1	1	0	1	1	3	2	2	2	1	1	3	1	1	1	9	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:168115530G>A	ENST00000409728.1	+	11	2662	c.2573G>A	c.(2572-2574)gGa>gAa	p.G858E	XIRP2_ENST00000409605.1_Missense_Mutation_p.G603E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.G825E|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.G858E|XIRP2_ENST00000409756.2_Missense_Mutation_p.G825E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	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						AACATTAAAGGAAGCCATTCA	0.378													8	15					0	0	0	0	A	168115530	G	A	168115530	3	1	328	1	0	0	0	0	1	0	0	0	17526	1174	41	2	11891	2	XIRP2	2	168115530	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	134	168115530	75083843	408	58622											
LRP2	4036	broad.mit.edu	37	chr2	170150732	170150732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagcacgagggatacactctCcattgccacatgaaaactca	15	7	7	12	1	2	1	1	1	1	0	3	3	2	2	2	1	4	1	2	1	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:170150732C>T	ENST00000263816.3	-	6	863	c.578G>A	c.(577-579)gGa>gAa	p.G193E	LRP2_ENST00000443831.1_Missense_Mutation_p.G193E	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	193	LDL-receptor class A 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GATACACTCTCCATTGCCACA	0.433													45	63					0	0	0	0	T	170150732	C	T	170150732	3	4	328	1	0	0	0	0	1	0	0	0	9020	855	30	2	13685	2	LRP2	2	170150732	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2035202	170150732	73048641	409	58623											
LRP2	4036	broad.mit.edu	37	chr2	170177351	170177351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcacacctccagtctgcaggGatgcaatgcccacttccaca	10	8	7	16	0	2	0	1	0	1	0	4	1	4	1	4	1	3	2	4	1	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:170177351G>A	ENST00000263816.3	-	2	408	c.123C>T	c.(121-123)atC>atT	p.I41I	LRP2_ENST00000443831.1_Silent_p.I41I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	41	LDL-receptor class A 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTCTGCAGGGATGCAATGCC	0.453													28	42					0	0	0	0	A	170177351	G	A	170177351	2	1	328	1	0	0	0	0	0	0	0	1	9020	1164	41	2		2	LRP2	2	170177351	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	26619	170177351	73022022	410	58624											
MYO3B	140469	broad.mit.edu	37	chr2	171248046	171248046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggagagagaaaaattttCatatattttactatatttat	16	17	5	3	0	2	2	2	0	0	2	2	4	2	2	0	1	1	0	0	1	8	10			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:171248046C>T	ENST00000334231.6	+	15	1621	c.1621C>T	c.(1621-1623)Cat>Tat	p.H541Y	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.H532Y|MYO3B_ENST00000409044.3_Missense_Mutation_p.H532Y			Q8WXR4	MYO3B_HUMAN	myosin IIIB	532	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GAAAAATTTTCATATATTTTA	0.348													6	21					0	0	0	0	T	171248046	C	T	171248046	3	4	328	1	0	0	0	0	1	0	0	0	10147	826	29	2	1652	2	MYO3B	2	171248046	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1070695	171248046	71951327	411	58625											
DYNC1I2	1781	broad.mit.edu	37	chr2	172582533	172582533	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattgtagaaagagctcttTctgagcagattaacatcttc	13	13	8	7	0	3	4	0	1	3	3	4	5	3	4	0	0	3	3	0	0	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:172582533T>G	ENST00000534253.2	+	9	880	c.712T>G	c.(712-714)Tct>Gct	p.S238A	DYNC1I2_ENST00000263811.4_Missense_Mutation_p.S232A|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.S230A|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.S212A|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.S230A|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.S238A|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.S212A|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.S238A|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.S212A|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.S238A|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.S232A			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	238					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AAGAGCTCTTTCTGAGCAGAT	0.348													10	14					0	0	0	0	G	172582533	T	G	172582533	3	3	328	1	0	0	0	0	1	0	0	0	4879	1783	62	5	742	5	DYNC1I2	2	172582533	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1334487	172582533	70616840	412	58626											
HOXD1	3231	broad.mit.edu	37	chr2	177054765	177054765	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgagaagggcttctggcCacggccattcctgtggctcc	7	8	13	13	2	1	1	0	0	1	1	3	3	3	1	4	4	1	2	4	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:177054765C>T	ENST00000331462.4	+	2	1105	c.882C>T	c.(880-882)gcC>gcT	p.A294A		NM_024501.1	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	294						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		GGCTTCTGGCCACGGCCATTC	0.532													51	78					0	0	0	0	T	177054765	C	T	177054765	2	4	328	1	0	0	0	0	0	0	0	1	7368	581	21	4		4	HOXD1	2	177054765	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4472232	177054765	66144608	413	58627											
TTN	7273	broad.mit.edu	37	chr2	179413404	179413404	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttctgttgcagttttcCacagtgagggtgctgaagga	8	14	12	7	0	2	2	1	2	1	0	3	3	3	3	1	2	2	4	1	2	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179413404C>T	ENST00000589042.1	-	339	93173	c.92949G>A	c.(92947-92949)gtG>gtA	p.V30983V	TTN_ENST00000342992.6_Silent_p.V28415V|TTN_ENST00000342175.6_Silent_p.V22110V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.V21918V|TTN_ENST00000591111.1_Silent_p.V29342V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.V22043V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29342	Fibronectin type-III 126.						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)			TGCAGTTTTCCACAGTGAGGG	0.453													53	81					0	0	0	0	T	179413404	C	T	179413404	2	4	328	1	0	0	0	0	0	0	0	1	16831	581	21	4		4	TTN	2	179413404	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2358639	179413404	63785969	414	58628											
TTN	7273	broad.mit.edu	37	chr2	179414056	179414056	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgctgatcacttttaccCatcttgtgcttttcttttct	4	22	5	10	0	4	1	1	1	3	0	4	1	4	1	1	0	3	3	1	0	1	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179414056C>T	ENST00000589042.1	-	339	92521	c.92297G>A	c.(92296-92298)tGg>tAg	p.W30766*	TTN_ENST00000342992.6_Nonsense_Mutation_p.W28198*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W21893*|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W21701*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W29125*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W21826*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29125	Fibronectin type-III 124.						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)			CACTTTTACCCATCTTGTGCT	0.418													19	56					0	0	0	0	T	179414056	C	T	179414056	4	4	328	1	0	0	0	0	0	1	0	0	16831	595	21	4	15778	4	TTN	2	179414056	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	652	179414056	63785317	415	58629											
TTN	7273	broad.mit.edu	37	chr2	179416808	179416808	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaacacttgaacacaccatCttccagttagtttgtgaagt	12	12	7	10	0	1	2	0	2	1	0	2	2	2	2	2	0	2	3	2	0	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179416808C>T	ENST00000589042.1	-	335	91043	c.90819G>A	c.(90817-90819)aaG>aaA	p.K30273K	TTN_ENST00000342992.6_Silent_p.K27705K|TTN_ENST00000342175.6_Silent_p.K21400K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.K21208K|TTN_ENST00000591111.1_Silent_p.K28632K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.K21333K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28632	Fibronectin type-III 121.						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)			AACACACCATCTTCCAGTTAG	0.423													36	50					0	0	0	0	T	179416808	C	T	179416808	2	4	328	1	0	0	0	0	0	0	0	1	16831	912	32	2		2	TTN	2	179416808	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2752	179416808	63782565	416	58630											
TTN	7273	broad.mit.edu	37	chr2	179437888	179437888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggttacctggtggtccaGgtttaaacacagtgtcacaa	10	11	12	8	0	1	0	1	0	0	0	2	0	2	0	2	4	2	2	2	4	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179437888G>A	ENST00000589042.1	-	326	73195	c.72971C>T	c.(72970-72972)cCt>cTt	p.P24324L	TTN_ENST00000342992.6_Missense_Mutation_p.P21756L|TTN_ENST00000342175.6_Missense_Mutation_p.P15451L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15259L|TTN_ENST00000591111.1_Missense_Mutation_p.P22683L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15384L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22683	Fibronectin type-III 76.						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)			TGGTGGTCCAGGTTTAAACAC	0.433													29	47					0	0	0	0	A	179437888	G	A	179437888	3	1	328	1	0	0	0	0	1	0	0	0	16831	1000	35	4	35156	4	TTN	2	179437888	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	21080	179437888	63761485	417	58631											
TTN	7273	broad.mit.edu	37	chr2	179442205	179442205	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaattgttagcccatcttTtattgtgggatcaaggacaa	11	16	8	6	0	2	0	1	0	1	0	2	2	2	2	1	2	1	1	1	2	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179442205T>G	ENST00000589042.1	-	324	69081	c.68857A>C	c.(68857-68859)Aaa>Caa	p.K22953Q	TTN_ENST00000342992.6_Missense_Mutation_p.K20385Q|TTN_ENST00000342175.6_Missense_Mutation_p.K14080Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K13888Q|TTN_ENST00000591111.1_Missense_Mutation_p.K21312Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14013Q|RP11-171I2.5_ENST00000604215.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21312	Fibronectin type-III 66.						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)			AGCCCATCTTTTATTGTGGGA	0.363													15	14					0	0	0	0	G	179442205	T	G	179442205	3	3	328	1	0	0	0	0	1	0	0	0	16831	1850	64	5	39278	5	TTN	2	179442205	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	4317	179442205	63757168	418	58632											
TTN	7273	broad.mit.edu	37	chr2	179447251	179447251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccatcttcaagaggcggttCccaagaaagcatagcacgat	13	8	9	11	2	2	2	1	0	1	2	4	3	4	2	2	2	2	3	2	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179447251C>T	ENST00000589042.1	-	314	66156	c.65932G>A	c.(65932-65934)Gaa>Aaa	p.E21978K	TTN_ENST00000342992.6_Missense_Mutation_p.E19410K|TTN_ENST00000342175.6_Missense_Mutation_p.E13105K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12913K|TTN_ENST00000591111.1_Missense_Mutation_p.E20337K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13038K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20337	Fibronectin type-III 59.						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)			AGAGGCGGTTCCCAAGAAAGC	0.443													27	32					0	0	0	0	T	179447251	C	T	179447251	3	4	328	1	0	0	0	0	1	0	0	0	16831	864	30	2	42243	2	TTN	2	179447251	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5046	179447251	63752122	419	58633											
TTN	7273	broad.mit.edu	37	chr2	179467060	179467060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtatcacttggttcagattCaccagcttcattgacagctt	9	15	7	10	0	4	2	4	1	0	1	4	2	4	2	1	1	2	4	1	1	1	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179467060C>T	ENST00000589042.1	-	283	55293	c.55069G>A	c.(55069-55071)Gaa>Aaa	p.E18357K	TTN_ENST00000342992.6_Missense_Mutation_p.E15789K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9484K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E9292K|TTN_ENST00000591111.1_Missense_Mutation_p.E16716K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9417K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16716	Fibronectin type-III 33.						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)			GGTTCAGATTCACCAGCTTCA	0.398													14	41					0	0	0	0	T	179467060	C	T	179467060	3	4	328	1	0	0	0	0	1	0	0	0	16831	835	29	2	52944	2	TTN	2	179467060	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	19809	179467060	63732313	420	58634											
TTN	7273	broad.mit.edu	37	chr2	179489447	179489447	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagaggcttagtgaattCaactgggggttctgaaagaa	13	10	12	6	0	3	4	2	2	1	2	3	4	3	4	0	3	1	2	0	3	6	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179489447C>A	ENST00000589042.1	-	242	44784	c.44560G>T	c.(44560-44562)Gaa>Taa	p.E14854*	TTN_ENST00000342992.6_Nonsense_Mutation_p.E12286*|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E5981*|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E5789*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E13213*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E5914*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13213	Fibronectin type-III 7.						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)			TTAGTGAATTCAACTGGGGGT	0.483													23	32					1.39806e-14	1.42016e-14	1	0	A	179489447	C	A	179489447	4	1	328	1	0	0	0	0	0	1	0	0	16831	835	29	2	63617	2	TTN	2	179489447	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	22387	179489447	63709926	421	58635											
TTN	7273	broad.mit.edu	37	chr2	179499246	179499246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttaattatatcaggtcCtttggaccatataacatttg	12	16	6	7	0	1	1	1	1	0	0	2	2	2	2	2	2	1	0	2	2	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179499246C>T	ENST00000589042.1	-	230	42486	c.42262G>A	c.(42262-42264)Gga>Aga	p.G14088R	TTN_ENST00000342992.6_Missense_Mutation_p.G11520R|TTN_ENST00000342175.6_Missense_Mutation_p.G5215R|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G5023R|TTN_ENST00000591111.1_Missense_Mutation_p.G12447R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5148R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12447	Fibronectin type-III 1.						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)			ATATCAGGTCCTTTGGACCAT	0.408													39	59					0	0	0	0	T	179499246	C	T	179499246	3	4	328	1	0	0	0	0	1	0	0	0	16831	690	24	4	65963	4	TTN	2	179499246	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	9799	179499246	63700127	422	58636											
TTN	7273	broad.mit.edu	37	chr2	179500735	179500735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccaggttgttggcgttttCcacagtaactgtgtatgttc	6	16	10	9	1	0	0	0	0	0	0	3	0	2	0	2	2	1	6	2	2	2	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179500735C>T	ENST00000589042.1	-	226	41787	c.41563G>A	c.(41563-41565)Gaa>Aaa	p.E13855K	TTN_ENST00000342992.6_Missense_Mutation_p.E11287K|TTN_ENST00000342175.6_Missense_Mutation_p.E4982K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4790K|TTN_ENST00000591111.1_Missense_Mutation_p.E12214K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4915K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12214							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)			TTGGCGTTTTCCACAGTAACT	0.458													41	58					0	0	0	0	T	179500735	C	T	179500735	3	4	328	1	0	0	0	0	1	0	0	0	16831	864	30	2	66678	2	TTN	2	179500735	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1489	179500735	63698638	423	58637											
TTN	7273	broad.mit.edu	37	chr2	179544117	179544117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aataagcacaggaactttctCctctggcttcttaggaacct	11	12	7	11	0	3	0	0	0	3	0	4	2	3	2	2	3	3	2	2	3	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179544117C>T	ENST00000589042.1	-	142	33915	c.33691G>A	c.(33691-33693)Gag>Aag	p.E11231K	TTN_ENST00000342992.6_Missense_Mutation_p.E9987K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E10914K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10914	Glu-rich.|Pro-rich.						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)			GGAACTTTCTCCTCTGGCTTC	0.378													23	43					0	0	0	0	T	179544117	C	T	179544117	3	4	328	1	0	0	0	0	1	0	0	0	16831	864	30	2	70722	2	TTN	2	179544117	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	43382	179544117	63655256	424	58638											
TTN	7273	broad.mit.edu	37	chr2	179577493	179577493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactatgcaagtatattctcCactttgtgatgtatctacat	12	16	5	8	0	2	1	0	1	2	0	3	1	2	1	1	0	3	3	1	0	7	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179577493C>T	ENST00000589042.1	-	94	27483	c.27259G>A	c.(27259-27261)Gga>Aga	p.G9087R	TTN_ENST00000342992.6_Missense_Mutation_p.G7843R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8770R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8770	Ig-like 74.						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)			GTATATTCTCCACTTTGTGAT	0.413													13	43					0	0	0	0	T	179577493	C	T	179577493	3	4	328	1	0	0	0	0	1	0	0	0	16831	603	21	4	77346	4	TTN	2	179577493	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	33376	179577493	63621880	425	58639											
TTN	7273	broad.mit.edu	37	chr2	179584295	179584295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcaccagaaacatggacgGatacagtgcagttacttttg	13	10	9	9	1	1	1	1	0	0	1	1	3	1	3	1	2	4	2	1	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179584295G>A	ENST00000589042.1	-	82	24148	c.23924C>T	c.(23923-23925)tCc>tTc	p.S7975F	TTN_ENST00000342992.6_Missense_Mutation_p.S6731F|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7658F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7658	Ig-like 62.						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)			AACATGGACGGATACAGTGCA	0.388													62	78					0	0	0	0	A	179584295	G	A	179584295	3	1	328	1	0	0	0	0	1	0	0	0	16831	1174	41	2	80729	2	TTN	2	179584295	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6802	179584295	63615078	426	58640											
TTN	7273	broad.mit.edu	37	chr2	179585147	179585147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcaagaacacgtgtcacttCccacctcattagtagctttg	11	11	7	12	1	2	1	2	0	0	1	3	1	3	1	2	0	3	3	2	0	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179585147C>T	ENST00000589042.1	-	80	23566	c.23342G>A	c.(23341-23343)gGa>gAa	p.G7781E	TTN_ENST00000342992.6_Missense_Mutation_p.G6537E|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G7464E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7464	Ig-like 60.						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)			CGTGTCACTTCCCACCTCATT	0.383													32	59					0	0	0	0	T	179585147	C	T	179585147	3	4	328	1	0	0	0	0	1	0	0	0	16831	855	30	2	81319	2	TTN	2	179585147	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	852	179585147	63614226	427	58641											
TTN	7273	broad.mit.edu	37	chr2	179596984	179596984	+	Missense_Mutation	SNP	G	G	A																															accatgttattttaattggaGgggtaccagttactttgcag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179596984G>A	ENST00000589042.1	-	57	16936	c.16712C>T	c.(16711-16713)cCt>cTt	p.P5571L	TTN_ENST00000342992.6_Missense_Mutation_p.P4327L|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P5254L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5254	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAATTGGAGGGGTACCAGT	0.428													33	87					0	0	0	0	A	179596984	G	A	179596984	3	1	328	1	0	0	0	0	1	0	0	0	16831	1000	35	4	88041	4	TTN	2	179596984	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	11837	179596984	63602389	428	58642	508	2									
TTN	7273	broad.mit.edu	37	chr2	179596985	179596985	+	Missense_Mutation	SNP	G	G	A																															ccatgttattttaattggagGggtaccagttactttgcagg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179596985G>A	ENST00000589042.1	-	57	16935	c.16711C>T	c.(16711-16713)Cct>Tct	p.P5571S	TTN_ENST00000342992.6_Missense_Mutation_p.P4327S|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P5254S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5254	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAATTGGAGGGGTACCAGTT	0.428													35	88					0	0	0	0	A	179596985	G	A	179596985	3	1	328	1	0	0	0	0	1	0	0	0	16831	1232	43	4	88042	4	TTN	2	179596985	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	179596985	63602388	429	58643	508	2									
TTN	7273	broad.mit.edu	37	chr2	179598474	179598474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattggaaaagctcattttGatttttccgtcttctctgat	8	18	6	9	1	3	2	1	2	2	0	5	3	4	3	2	1	1	1	2	1	2	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179598474G>A	ENST00000589042.1	-	53	15866	c.15642C>T	c.(15640-15642)atC>atT	p.I5214I	TTN_ENST00000342992.6_Silent_p.I3970I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.I4897I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4897	Ig-like 32.						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)			AGCTCATTTTGATTTTTCCGT	0.453													59	94					0	0	0	0	A	179598474	G	A	179598474	2	1	328	1	0	0	0	0	0	0	0	1	16831	1280	45	2		2	TTN	2	179598474	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1489	179598474	63600899	430	58644											
TTN	7273	broad.mit.edu	37	chr2	179600389	179600389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttataatctttccctgggggGagtttttgcccatctttgct	5	18	9	9	0	2	0	0	0	2	0	3	1	3	1	2	3	2	2	2	3	2	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179600389G>A	ENST00000589042.1	-	50	15008	c.14784C>T	c.(14782-14784)ctC>ctT	p.L4928L	TTN_ENST00000342992.6_Silent_p.L3684L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.L4611L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4611	Ig-like 29.						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)			TCCCTGGGGGGAGTTTTTGCC	0.428													19	30					0	0	0	0	A	179600389	G	A	179600389	2	1	328	1	0	0	0	0	0	0	0	1	16831	1161	41	2		2	TTN	2	179600389	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1915	179600389	63598984	431	58645											
TTN	7273	broad.mit.edu	37	chr2	179604010	179604010	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgatcttgtaaacacttGaacttttcatctgaaggcac	11	16	6	8	0	3	3	1	3	2	0	3	3	3	3	0	1	2	2	0	1	4	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179604010G>A	ENST00000589042.1	-	48	14174	c.13950C>T	c.(13948-13950)ttC>ttT	p.F4650F	TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Silent_p.F4479F|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Silent_p.F4287F|TTN_ENST00000591111.1_Silent_p.F4333F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.F4412F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4333	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAAACACTTGAACTTTTCAT	0.388													10	23					0	0	0	0	A	179604010	G	A	179604010	2	1	328	1	0	0	0	0	0	0	0	1	16831	1281	45	2		2	TTN	2	179604010	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3621	179604010	63595363	432	58646											
TTN	7273	broad.mit.edu	37	chr2	179606172	179606172	+	Missense_Mutation	SNP	C	C	T																															acaaggacctcccagcttttCcagagattttgccactgctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179606172C>T	ENST00000589042.1	-	48	12012	c.11788G>A	c.(11788-11790)Gaa>Aaa	p.E3930K	TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E3759K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3567K|TTN_ENST00000591111.1_Missense_Mutation_p.E3613K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3692K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3613							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)			CCCAGCTTTTCCAGAGATTTT	0.438													63	93					0	0	0	0	T	179606172	C	T	179606172	3	4	328	1	0	0	0	0	1	0	0	0	16831	864	30	2	93001	2	TTN	2	179606172	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2162	179606172	63593201	433	58647	509	2									
TTN	7273	broad.mit.edu	37	chr2	179606173	179606173	+	Silent	SNP	C	C	T																															caaggacctcccagcttttcCagagattttgccactgctga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179606173C>T	ENST00000589042.1	-	48	12011	c.11787G>A	c.(11785-11787)ctG>ctA	p.L3929L	TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Silent_p.L3758L|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Silent_p.L3566L|TTN_ENST00000591111.1_Silent_p.L3612L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.L3691L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3612							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)			CCAGCTTTTCCAGAGATTTTG	0.433													63	95					0	0	0	0	T	179606173	C	T	179606173	2	4	328	1	0	0	0	0	0	0	0	1	16831	581	21	4		4	TTN	2	179606173	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	179606173	63593200	434	58648	509	2									
TTN	7273	broad.mit.edu	37	chr2	179614852	179614852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaattctgtgtctccagagGgaggaactggtgggttagtt	8	12	15	6	0	2	1	0	0	2	1	3	3	2	3	1	4	1	3	1	4	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179614852G>A	ENST00000360870.5	-	46	12497	c.12275C>T	c.(12274-12276)cCc>cTc	p.P4092L	TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3468							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)			GTCTCCAGAGGGAGGAACTGG	0.423													27	49					0	0	0	0	A	179614852	G	A	179614852	3	1	328	1	0	0	0	0	1	0	0	0	16831	1232	43	4	98022	4	TTN	2	179614852	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	8679	179614852	63584521	435	58649											
TTN	7273	broad.mit.edu	37	chr2	179633554	179633554	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatttgatttccacaccattCtttaaccatttgtaagagat	12	16	5	8	0	1	2	0	1	1	1	2	4	2	2	3	0	1	1	3	0	2	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179633554C>T	ENST00000589042.1	-	38	9233	c.9009G>A	c.(9007-9009)aaG>aaA	p.K3003K	TTN_ENST00000360870.5_Silent_p.K3003K|TTN_ENST00000342992.6_Silent_p.K3003K|TTN_ENST00000342175.6_Silent_p.K2957K|TTN_ENST00000460472.2_Silent_p.K2957K|TTN_ENST00000591111.1_Silent_p.K3003K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.K2957K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2742	Ig-like 17.						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)			CCACACCATTCTTTAACCATT	0.403													19	40					0	0	0	0	T	179633554	C	T	179633554	2	4	328	1	0	0	0	0	0	0	0	1	16831	912	32	2		2	TTN	2	179633554	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	18702	179633554	63565819	436	58650											
TTN	7273	broad.mit.edu	37	chr2	179639648	179639648	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccttcgttgttgaatacCttcaacaataagtttagcag	13	14	6	8	1	1	1	1	1	0	0	3	1	2	1	2	0	3	4	2	0	7	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179639648C>T	ENST00000589042.1	-	29	7014	c.6790_splice	c.e29+1	p.G2264_splice	TTN_ENST00000360870.5_Splice_Site_p.G2264_splice|TTN_ENST00000342992.6_Splice_Site_p.G2264_splice|TTN_ENST00000342175.6_Splice_Site_p.G2218_splice|TTN_ENST00000460472.2_Splice_Site_p.G2218_splice|TTN_ENST00000591111.1_Splice_Site_p.G2264_splice|TTN_ENST00000359218.5_Splice_Site_p.G2218_splice	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1988	Ig-like 12.						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)			TGTTGAATACCTTCAACAATA	0.358													23	30					0	0	0	0	T	179639648	C	T	179639648	5	4	328	1	0	0	0	0	0	0	1	0	16831	695	24	4	104534	4	TTN	2	179639648	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6094	179639648	63559725	437	58651											
TTN	7273	broad.mit.edu	37	chr2	179644006	179644006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgaaaagtgacacccatccCctcaagaattctataattct	15	11	4	11	0	3	3	1	2	2	1	4	3	4	3	3	0	0	0	3	0	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179644006C>T	ENST00000589042.1	-	23	4137	c.3913G>A	c.(3913-3915)Ggg>Agg	p.G1305R	TTN_ENST00000360870.5_Missense_Mutation_p.G1305R|TTN_ENST00000342992.6_Missense_Mutation_p.G1305R|TTN_ENST00000342175.6_Missense_Mutation_p.G1259R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G1259R|TTN_ENST00000591111.1_Missense_Mutation_p.G1305R|TTN_ENST00000359218.5_Missense_Mutation_p.G1259R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1305	Ig-like 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)			ACACCCATCCCCTCAAGAATT	0.348													17	49					0	0	0	0	T	179644006	C	T	179644006	3	4	328	1	0	0	0	0	1	0	0	0	16831	623	22	4	107435	4	TTN	2	179644006	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4358	179644006	63555367	438	58652											
SESTD1	91404	broad.mit.edu	37	chr2	180008406	180008406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagcgggtatattgctctcgGagtgaatctaataatttcat	11	15	9	6	2	3	1	1	1	2	0	4	2	3	2	0	2	2	2	0	2	6	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:180008406G>A	ENST00000428443.3	-	9	1078	c.762C>T	c.(760-762)ctC>ctT	p.L254L		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	254					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATTGCTCTCGGAGTGAATCTA	0.458													32	71					0	0	0	0	A	180008406	G	A	180008406	2	1	328	1	0	0	0	0	0	0	0	1	14214	1161	41	2		2	SESTD1	2	180008406	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	364400	180008406	63190967	439	58653											
PDE1A	5136	broad.mit.edu	37	chr2	183099206	183099206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatgccaaaccaaccatatGatatgtttttcggtacattc	13	14	5	9	1	0	1	0	1	0	0	2	1	0	1	3	1	4	2	3	1	6	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:183099206G>A	ENST00000435564.1	-	4	618	c.418C>T	c.(418-420)Cat>Tat	p.H140Y	PDE1A_ENST00000346717.4_Missense_Mutation_p.H106Y|PDE1A_ENST00000456212.1_Missense_Mutation_p.H140Y|PDE1A_ENST00000410103.1_Missense_Mutation_p.H140Y|PDE1A_ENST00000358139.2_Missense_Mutation_p.H140Y|PDE1A_ENST00000409365.1_Missense_Mutation_p.H124Y|PDE1A_ENST00000536095.1_Missense_Mutation_p.H36Y|PDE1A_ENST00000351439.5_Missense_Mutation_p.H124Y|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000331935.6_Missense_Mutation_p.H140Y	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	140					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CCAACCATATGATATGTTTTT	0.264													51	57					0	0	0	0	A	183099206	G	A	183099206	3	1	328	1	0	0	0	0	1	0	0	0	11704	1290	45	2	1311	2	PDE1A	2	183099206	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3090800	183099206	60100167	440	58654											
PDE1A	5136	broad.mit.edu	37	chr2	183104926	183104926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttttttgtcatccccattttCcgtgtaaaggtagaagccaa	10	15	7	9	1	1	1	1	0	0	1	3	1	3	1	4	1	1	2	4	1	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:183104926C>T	ENST00000435564.1	-	3	509	c.309G>A	c.(307-309)cgG>cgA	p.R103R	PDE1A_ENST00000346717.4_Silent_p.R69R|PDE1A_ENST00000456212.1_Silent_p.R103R|PDE1A_ENST00000410103.1_Silent_p.R103R|PDE1A_ENST00000358139.2_Silent_p.R103R|PDE1A_ENST00000409365.1_Silent_p.R87R|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Silent_p.R87R|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000331935.6_Silent_p.R103R	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	103					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCCCCATTTTCCGTGTAAAGG	0.423													42	81					0	0	0	0	T	183104926	C	T	183104926	2	4	328	1	0	0	0	0	0	0	0	1	11704	842	30	2		2	PDE1A	2	183104926	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5720	183104926	60094447	441	58655											
ZNF804A	91752	broad.mit.edu	37	chr2	185800779	185800779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcttttcttttgcatttcCaaagaaagcgtccgtgaagc	9	13	9	10	3	1	2	0	1	1	1	3	2	3	2	2	1	3	2	2	1	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:185800779C>T	ENST00000302277.6	+	4	1250	c.656C>T	c.(655-657)cCa>cTa	p.P219L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	219						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTGCATTTCCAAAGAAAGCG	0.418													36	47					0	0	0	0	T	185800779	C	T	185800779	3	4	328	1	0	0	0	0	1	0	0	0	18263	594	21	4	670	4	ZNF804A	2	185800779	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2695853	185800779	57398594	442	58656											
FAM171B	165215	broad.mit.edu	37	chr2	187627043	187627043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaatttcagaacagaccctCctggagctgtccaaaggaaa	14	7	10	10	0	1	2	1	0	0	2	3	5	3	5	3	3	2	1	3	3	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:187627043C>T	ENST00000304698.5	+	8	2177	c.1974C>T	c.(1972-1974)ctC>ctT	p.L658L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	658						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AACAGACCCTCCTGGAGCTGT	0.493													39	79					0	0	0	0	T	187627043	C	T	187627043	2	4	328	1	0	0	0	0	0	0	0	1	5532	842	30	2		2	FAM171B	2	187627043	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1826264	187627043	55572330	443	58657											
ANKAR	150709	broad.mit.edu	37	chr2	190611141	190611141	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaattaaaacctaaaattCaaccaaaagattctttgact	20	11	3	7	0	2	2	1	1	1	1	2	3	2	2	2	0	2	0	2	0	9	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:190611141C>T	ENST00000520309.1	+	23	4181	c.4093C>T	c.(4093-4095)Caa>Taa	p.Q1365*	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Nonsense_Mutation_p.Q1365*|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Nonsense_Mutation_p.Q1294*	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1365						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ACCTAAAATTCAACCAAAAGA	0.343													46	100					0	0	0	0	T	190611141	C	T	190611141	4	4	328	1	0	0	0	0	0	1	0	0	623	827	29	2	4179	2	ANKAR	2	190611141	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2984098	190611141	52588232	444	58658											
PMS1	5378	broad.mit.edu	37	chr2	190719164	190719164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatacttcagtcattcCattccaaaatgatatgcata	13	15	5	8	0	2	2	2	2	0	0	4	2	4	2	2	0	2	2	2	0	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:190719164C>T	ENST00000441310.2	+	9	1399	c.1166C>T	c.(1165-1167)cCa>cTa	p.P389L	PMS1_ENST00000447232.2_Missense_Mutation_p.P389L|PMS1_ENST00000409823.3_Missense_Mutation_p.P350L|PMS1_ENST00000432292.3_Missense_Mutation_p.P213L|PMS1_ENST00000418224.3_Missense_Mutation_p.P213L|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	389					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TCAGTCATTCCATTCCAAAAT	0.323			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					35	45					0	0	0	0	T	190719164	C	T	190719164	3	4	328	1	0	0	0	0	1	0	0	0	12214	594	21	4	1196	4	PMS1	2	190719164	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	108023	190719164	52480209	445	58659											
STK17B	9262	broad.mit.edu	37	chr2	197021263	197021263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagcacagcaatctcgtGtaaaatttctgctcgacaat	13	12	6	10	2	3	0	1	0	2	0	5	1	3	0	0	0	3	4	0	0	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:197021263G>A	ENST00000263955.4	-	3	521	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	STK17B_ENST00000409228.1_Missense_Mutation_p.H79Y	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	79	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GCAATCTCGTGTAAAATTTCT	0.348													33	47					0	0	0	0	A	197021263	G	A	197021263	3	1	328	1	0	0	0	0	1	0	0	0	15381	1377	48	4	907	4	STK17B	2	197021263	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6302099	197021263	46178110	446	58660											
HECW2	57520	broad.mit.edu	37	chr2	197182021	197182021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagagcctcgtccaccCtctggtaccggctaacatcc	7	8	11	15	2	1	1	0	0	1	1	4	2	3	1	5	3	3	2	5	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:197182021C>T	ENST00000260983.2	-	10	2593	c.2411G>A	c.(2410-2412)aGg>aAg	p.R804K	HECW2_ENST00000409111.1_Missense_Mutation_p.R448K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	804	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCGTCCACCCTCTGGTACCG	0.532													4	12					0	0	0	0	T	197182021	C	T	197182021	3	4	328	1	0	0	0	0	1	0	0	0	7093	681	24	4	2387	4	HECW2	2	197182021	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	160758	197182021	46017352	447	58661											
PLCL1	5334	broad.mit.edu	37	chr2	198950750	198950750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttttgtgggtgacatcatgGagcacgtaaccctttttgtc	7	15	10	9	1	1	1	1	1	0	0	2	2	1	2	1	2	2	2	1	2	1	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:198950750G>A	ENST00000428675.1	+	2	2907	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E739K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	837					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E739*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGACATCATGGAGCACGTAAC	0.458													18	50					0	0	0	0	A	198950750	G	A	198950750	3	1	328	1	0	0	0	0	1	0	0	0	12111	1175	41	2	2515	2	PLCL1	2	198950750	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1768729	198950750	44248623	448	58662											
CDK15	65061	broad.mit.edu	37	chr2	202677255	202677255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcatcagcatgaatgcagagGaaggagtcccatttacagct	13	9	10	9	0	2	2	2	1	0	1	3	4	3	4	1	2	4	3	1	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:202677255G>A	ENST00000450471.2	+	4	504	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	CDK15_ENST00000410091.3_Missense_Mutation_p.E89K|CDK15_ENST00000260967.2_Missense_Mutation_p.E89K|CDK15_ENST00000374598.4_Missense_Mutation_p.E140K|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Missense_Mutation_p.E140K	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	140	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GAATGCAGAGGAAGGAGTCCC	0.408													37	52					0	0	0	0	A	202677255	G	A	202677255	3	1	328	1	0	0	0	0	1	0	0	0	3160	1175	41	2	275	2	CDK15	2	202677255	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3726505	202677255	40522118	449	58663											
ZDBF2	57683	broad.mit.edu	37	chr2	207171881	207171881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaataagttcggattccCatgcccctcttcattcagtg	9	13	7	12	1	3	1	2	1	1	0	5	2	4	2	3	1	1	1	3	1	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:207171881C>T	ENST00000374423.3	+	5	3015	c.2629C>T	c.(2629-2631)Cat>Tat	p.H877Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	877							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCGGATTCCCATGCCCCTCT	0.378													18	48					0	0	0	0	T	207171881	C	T	207171881	3	4	328	1	0	0	0	0	1	0	0	0	17694	594	21	4	2639	4	ZDBF2	2	207171881	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4494626	207171881	36027492	450	58664											
ZDBF2	57683	broad.mit.edu	37	chr2	207174284	207174284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacttctcatcgaacgactCaccgactgcagaaagctcac	13	7	6	15	3	3	1	3	0	1	1	5	4	3	1	1	0	3	2	1	0	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:207174284C>T	ENST00000374423.3	+	5	5418	c.5032C>T	c.(5032-5034)Cac>Tac	p.H1678Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1678							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCGAACGACTCACCGACTGCA	0.408													23	9					0	0	0	0	T	207174284	C	T	207174284	3	4	328	1	0	0	0	0	1	0	0	0	17694	826	29	2	5042	2	ZDBF2	2	207174284	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2403	207174284	36025089	451	58665											
C2orf80	389073	broad.mit.edu	37	chr2	209045982	209045982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgataaaatcatagcttctCgttctctacgatttggatat	12	16	6	7	2	3	1	1	1	2	0	5	3	3	2	0	1	2	2	0	1	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:209045982C>T	ENST00000341287.4	-	5	449	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	C2orf80_ENST00000451346.1_Missense_Mutation_p.R66Q|C2orf80_ENST00000453017.1_Missense_Mutation_p.R85Q	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	85										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CATAGCTTCTCGTTCTCTACG	0.333													34	11					0	0	0	0	T	209045982	C	T	209045982	3	4	328	1	0	0	0	0	1	0	0	0	2217	884	31	1	347	1	C2orf80	2	209045982	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1871698	209045982	34153391	452	58666											
PIKFYVE	200576	broad.mit.edu	37	chr2	209167006	209167006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagcaatggttgatggaCgttggctggattgtgttagt	9	13	15	4	1	0	1	0	1	0	0	0	4	0	3	0	4	1	5	0	4	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:209167006C>T	ENST00000264380.4	+	10	1407	c.1249C>T	c.(1249-1251)Cgt>Tgt	p.R417C	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.R331C|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.R320C|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R417C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	417	DEP.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGTTGATGGACGTTGGCTGGA	0.408													21	10					0	0	0	0	T	209167006	C	T	209167006	3	4	328	1	0	0	0	0	1	0	0	0	11996	536	19	1	1283	1	PIKFYVE	2	209167006	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	121024	209167006	34032367	453	58667											
PTH2R	5746	broad.mit.edu	37	chr2	209358364	209358364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactgaaggatgccaaggaGaaactgaggatgttctctga	14	8	12	7	0	1	4	0	3	1	1	2	7	1	6	1	3	2	1	1	3	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:209358364G>A	ENST00000272847.2	+	13	1846	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	545						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		ATGCCAAGGAGAAACTGAGGA	0.498													31	12					0	0	0	0	A	209358364	G	A	209358364	3	1	328	1	0	0	0	0	1	0	0	0	12840	943	33	2	1683	2	PTH2R	2	209358364	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	191358	209358364	33841009	454	58668											
MARCH4	57574	broad.mit.edu	37	chr2	217148396	217148396	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatccacttgatgaggcaAggctggtgtgtgcacttgac	8	11	13	9	0	0	4	0	4	0	0	1	4	1	4	1	3	1	3	1	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:217148396A>G	ENST00000273067.4	-	2	2339	c.573T>C	c.(571-573)ccT>ccC	p.P191P		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	191						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TGATGAGGCAAGGCTGGTGTG	0.587													23	8					0	0	0	0	G	217148396	A	G	217148396	2	3	328	1	0	0	0	0	0	0	0	1	9372	59	3	5		5	MARCH4	2	217148396	Silent	SNP	A	TCGA-CV-7568-01A-11D-2229-08	7790032	217148396	26050977	455	58669											
VIL1	7429	broad.mit.edu	37	chr2	219289047	219289047	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcacctttggaagcttcttCgatggtgactgctacatcat	9	13	9	10	1	2	1	1	1	1	0	3	3	2	2	1	2	4	3	1	2	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:219289047C>T	ENST00000248444.5	+	3	211	c.123C>T	c.(121-123)ttC>ttT	p.F41F	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.F41F	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	41	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGCTTCTTCGATGGTGACT	0.592													39	22					0	0	0	0	T	219289047	C	T	219289047	2	4	328	1	0	0	0	0	0	0	0	1	17260	883	31	1		1	VIL1	2	219289047	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2140651	219289047	23910326	456	58670											
STK36	27148	broad.mit.edu	37	chr2	219563390	219563390	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccttctcacacgcctggcCctcatggatcccacctctct	6	10	6	19	1	3	0	2	0	2	0	6	1	4	1	5	2	1	0	5	2	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:219563390C>T	ENST00000295709.3	+	26	3402	c.3123C>T	c.(3121-3123)gcC>gcT	p.A1041A	STK36_ENST00000392106.2_Silent_p.A1020A|STK36_ENST00000440309.1_Silent_p.A1041A|STK36_ENST00000392105.3_Silent_p.A1020A	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1041					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CACGCCTGGCCCTCATGGATC	0.547													84	33					0	0	0	0	T	219563390	C	T	219563390	2	4	328	1	0	0	0	0	0	0	0	1	15392	610	22	4		4	STK36	2	219563390	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	274343	219563390	23635983	457	58671											
STK36	27148	broad.mit.edu	37	chr2	219563820	219563820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgcagcctaccaggctggtCctctgggacctgccctggca	6	8	12	15	0	1	0	0	0	1	0	2	1	2	1	5	4	4	3	5	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:219563820C>T	ENST00000295709.3	+	26	3832	c.3553C>T	c.(3553-3555)Cct>Tct	p.P1185S	STK36_ENST00000392106.2_Missense_Mutation_p.P1164S|STK36_ENST00000440309.1_Missense_Mutation_p.P1185S|STK36_ENST00000392105.3_Missense_Mutation_p.P1164S	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1185			P -> S (in an ovarian endometrioid sample; somatic mutation).		cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	p.P1185S(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCAGGCTGGTCCTCTGGGACC	0.602													20	12					0	0	0	0	T	219563820	C	T	219563820	3	4	328	1	0	0	0	0	1	0	0	0	15392	855	30	2	3651	2	STK36	2	219563820	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	430	219563820	23635553	458	58672											
OBSL1	23363	broad.mit.edu	37	chr2	220431779	220431779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgatggtggagagatcgaggGagaagacggcatcttccccg	10	7	16	8	3	1	4	0	1	1	3	3	8	2	5	2	4	0	1	2	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:220431779G>A	ENST00000404537.1	-	5	1963	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	OBSL1_ENST00000373876.1_Missense_Mutation_p.S636F|OBSL1_ENST00000373873.4_Missense_Mutation_p.S636F|OBSL1_ENST00000265318.4_Missense_Mutation_p.S636F|OBSL1_ENST00000603926.1_Missense_Mutation_p.S636F|OBSL1_ENST00000289656.3_Missense_Mutation_p.S223F	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	636					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GAGATCGAGGGAGAAGACGGC	0.607													6	11					0	0	0	0	A	220431779	G	A	220431779	3	1	328	1	0	0	0	0	1	0	0	0	10884	1174	41	2	4003	2	OBSL1	2	220431779	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	867959	220431779	22767594	459	58673											
COL4A3	1285	broad.mit.edu	37	chr2	228157944	228157944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggtgatatgggaaagaaagGagaaatggggcaacctggcc	14	5	17	5	0	0	3	0	1	0	2	0	5	0	4	2	6	1	1	2	6	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:228157944G>A	ENST00000396578.3	+	38	3410	c.3248G>A	c.(3247-3249)gGa>gAa	p.G1083E	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1083	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.G1083E(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAAAGAAAGGAGAAATGGGG	0.512													19	15					0	0	0	0	A	228157944	G	A	228157944	3	1	328	1	0	0	0	0	1	0	0	0	3721	1174	41	2	3398	2	COL4A3	2	228157944	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7726165	228157944	15041429	460	58674											
PID1	55022	broad.mit.edu	37	chr2	229890387	229890387	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattcctgggaaacctcttcGgaggagctgttgctgtggat	8	12	13	8	1	1	0	0	0	1	0	3	4	2	4	2	4	3	3	2	4	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:229890387G>A	ENST00000392054.3	-	4	1047	c.708C>T	c.(706-708)tcC>tcT	p.S236S	PID1_ENST00000409462.1_Silent_p.S156S|PID1_ENST00000392055.3_Silent_p.S205S|PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Silent_p.S238S	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	238	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		AAACCTCTTCGGAGGAGCTGT	0.532													38	23					0	0	0	0	A	229890387	G	A	229890387	2	1	328	1	0	0	0	0	0	0	0	1	11954	1103	39	1		1	PID1	2	229890387	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1732443	229890387	13308986	461	58675											
SP100	6672	broad.mit.edu	37	chr2	231380099	231380099	+	Missense_Mutation	SNP	C	C	T																															aggagaacatcctggcctgtCcattgatgatgttgtgaaga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:231380099C>T	ENST00000264052.5	+	25	2739	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	795					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCTGGCCTGTCCATTGATGAT	0.463													23	22					0	0	0	0	T	231380099	C	T	231380099	3	4	328	1	0	0	0	0	1	0	0	0	15048	855	30	2	2482	2	SP100	2	231380099	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1489712	231380099	11819274	462	58676	510	2									
SP100	6672	broad.mit.edu	37	chr2	231380100	231380100	+	Silent	SNP	C	C	T																															ggagaacatcctggcctgtcCattgatgatgttgtgaagaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:231380100C>T	ENST00000264052.5	+	25	2740	c.2385C>T	c.(2383-2385)tcC>tcT	p.S795S	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	795					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGGCCTGTCCATTGATGATG	0.463													21	22					0	0	0	0	T	231380100	C	T	231380100	2	4	328	1	0	0	0	0	0	0	0	1	15048	581	21	4		4	SP100	2	231380100	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	231380100	11819273	463	58677	510	2									
SP100	6672	broad.mit.edu	37	chr2	231380268	231380268	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaaagagagttgtcaaGgctgaaaaaagcaagaaaaa	23	4	10	4	0	1	3	1	1	0	2	1	4	1	3	0	1	1	4	0	1	10	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:231380268G>A	ENST00000264052.5	+	25	2908	c.2553G>A	c.(2551-2553)aaG>aaA	p.K851K	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	851					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		gagttgtcaaggctgaaaaaa	0.363													5	3					0	0	0	0	A	231380268	G	A	231380268	2	1	328	1	0	0	0	0	0	0	0	1	15048	991	35	4		4	SP100	2	231380268	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	168	231380268	11819105	464	58678											
SAG	6295	broad.mit.edu	37	chr2	234229349	234229349	+	Silent	SNP	G	G	A																															atcggcttgaccttccgcagGgacctgtacttctcccgggt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:234229349G>A	ENST00000409110.1	+	5	485	c.255G>A	c.(253-255)agG>agA	p.R85R	SAG_ENST00000449594.2_5'UTR|SAG_ENST00000461532.1_3'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	85					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CCTTCCGCAGGGACCTGTACT	0.587													3	6					0	0	0	0	A	234229349	G	A	234229349	2	1	328	1	0	0	0	0	0	0	0	1	13893	1223	43	4		4	SAG	2	234229349	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2849081	234229349	8970024	465	58679	511	2									
SAG	6295	broad.mit.edu	37	chr2	234229350	234229350	+	Missense_Mutation	SNP	G	G	A																															tcggcttgaccttccgcaggGacctgtacttctcccgggtc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:234229350G>A	ENST00000409110.1	+	5	486	c.256G>A	c.(256-258)Gac>Aac	p.D86N	SAG_ENST00000449594.2_5'UTR|SAG_ENST00000461532.1_3'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	86					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CTTCCGCAGGGACCTGTACTT	0.587													3	6					0	0	0	0	A	234229350	G	A	234229350	3	1	328	1	0	0	0	0	1	0	0	0	13893	1174	41	2	270	2	SAG	2	234229350	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	234229350	8970023	466	58680	511	2									
TRPM8	79054	broad.mit.edu	37	chr2	234871983	234871983	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcatctgggccattcttCagaataagaaggaactctcc	11	12	7	11	0	6	2	2	0	4	2	7	3	6	3	2	2	1	0	2	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:234871983C>T	ENST00000324695.4	+	13	1751	c.1711C>T	c.(1711-1713)Cag>Tag	p.Q571*	TRPM8_ENST00000433712.2_Nonsense_Mutation_p.Q259*	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	571						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGCCATTCTTCAGAATAAGAA	0.463													18	9					0	0	0	0	T	234871983	C	T	234871983	4	4	328	1	0	0	0	0	0	1	0	0	16687	827	29	2	1757	2	TRPM8	2	234871983	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	642633	234871983	8327390	467	58681											
COL6A3	1293	broad.mit.edu	37	chr2	238266485	238266485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccgaggtcaccggtttctCctttgggtcctctctcctgg	2	13	12	14	2	3	0	1	0	2	0	7	1	5	0	5	5	0	1	5	5	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:238266485C>T	ENST00000295550.4	-	22	6964	c.6512G>A	c.(6511-6513)gGa>gAa	p.G2171E	COL6A3_ENST00000347401.3_Missense_Mutation_p.G1970E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1971E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1965E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1564E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1965E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2171	Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCGGTTTCTCCTTTGGGTCC	0.542													107	60					0	0	0	0	T	238266485	C	T	238266485	3	4	328	1	0	0	0	0	1	0	0	0	3731	855	30	2	3113	2	COL6A3	2	238266485	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3394502	238266485	4932888	468	58682											
COL6A3	1293	broad.mit.edu	37	chr2	238296310	238296310	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtaatttctcctggaggtcCccaaagctacggaattccgg	10	10	10	11	2	1	0	0	0	1	0	4	2	3	2	4	4	2	2	4	4	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:238296310C>T	ENST00000295550.4	-	4	1679	c.1227G>A	c.(1225-1227)ggG>ggA	p.G409G	COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000392004.3_Silent_p.G203G|COL6A3_ENST00000346358.4_Silent_p.G409G|COL6A3_ENST00000409809.1_Silent_p.G203G|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Silent_p.G203G|COL6A3_ENST00000392003.2_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	409	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTGGAGGTCCCCAAAGCTAC	0.532													7	10					0	0	0	0	T	238296310	C	T	238296310	2	4	328	1	0	0	0	0	0	0	0	1	3731	610	22	4		4	COL6A3	2	238296310	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	29825	238296310	4903063	469	58683											
ANKMY1	51281	broad.mit.edu	37	chr2	241465802	241465802	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcccacagggtgcaaaGccactgcgcttcccctccag	7	7	11	16	1	0	0	0	0	0	0	2	0	2	0	5	2	3	2	5	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:241465802G>A	ENST00000391987.1	-	6	1113	c.747C>T	c.(745-747)ggC>ggT	p.G249G	ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000272972.3_Silent_p.G249G|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000401804.1_Silent_p.G338G			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	249							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGGTGCAAAGCCACTGCGCT	0.537													25	10					0	0	0	0	A	241465802	G	A	241465802	2	1	328	1	0	0	0	0	0	0	0	1	634	958	34	4		4	ANKMY1	2	241465802	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3169492	241465802	1733571	470	58684											
KIF1A	547	broad.mit.edu	37	chr2	241710442	241710442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaaacaagatgcgctcgtgGaggctggacacggaggccgc	10	4	16	11	4	0	1	0	0	0	1	1	4	0	4	1	5	2	3	1	5	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:241710442G>A	ENST00000498729.2	-	15	1533	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L	KIF1A_ENST00000320389.7_Silent_p.L420L	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	420					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGCGCTCGTGGAGGCTGGACA	0.647													26	13					0	0	0	0	A	241710442	G	A	241710442	2	1	328	1	0	0	0	0	0	0	0	1	8334	1161	41	2		2	KIF1A	2	241710442	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	244640	241710442	1488931	471	58685											
KIF1A	547	broad.mit.edu	37	chr2	241726675	241726675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggggagccctacctccacgGagtaggacatgttgtcgttg	7	9	14	11	3	0	0	0	0	0	0	2	3	1	3	3	4	2	3	3	4	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:241726675G>A	ENST00000498729.2	-	5	668	c.422C>T	c.(421-423)tCc>tTc	p.S141F	KIF1A_ENST00000320389.7_Missense_Mutation_p.S141F	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	141	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TACCTCCACGGAGTAGGACAT	0.627													30	12					0	0	0	0	A	241726675	G	A	241726675	3	1	328	1	0	0	0	0	1	0	0	0	8334	1174	41	2	4822	2	KIF1A	2	241726675	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	16233	241726675	1472698	472	58686											
CNTN6	27255	broad.mit.edu	37	chr3	1339609	1339609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaccaaagattgaagtgcGttttcctgaaactatacaag	15	11	8	7	1	0	4	0	3	0	1	1	4	1	4	2	0	4	1	2	0	7	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:1339609G>A	ENST00000446702.2	+	7	1322	c.695G>A	c.(694-696)cGt>cAt	p.R232H	CNTN6_ENST00000350110.2_Missense_Mutation_p.R232H|CNTN6_ENST00000539053.1_Missense_Mutation_p.R160H			Q9UQ52	CNTN6_HUMAN	contactin 6	232	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTGAAGTGCGTTTTCCTGAA	0.358													31	77					0	0	0	0	A	1339609	G	A	1339609	3	1	328	1	0	0	0	0	1	0	0	0	3675	1145	40	1	717	1	CNTN6	3	1339609	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08		1339609	196682821	473	58687											
CNTN6	27255	broad.mit.edu	37	chr3	1414031	1414031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaaatggatgttacagttgGcgagagtatagtgctaccat	13	11	11	6	1	0	1	0	0	0	1	0	3	0	2	1	2	3	4	1	2	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:1414031G>A	ENST00000446702.2	+	13	2168	c.1541G>A	c.(1540-1542)gGc>gAc	p.G514D	CNTN6_ENST00000350110.2_Missense_Mutation_p.G514D|CNTN6_ENST00000539053.1_Missense_Mutation_p.G442D			Q9UQ52	CNTN6_HUMAN	contactin 6	514	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTTACAGTTGGCGAGAGTATA	0.388													32	52					0	0	0	0	A	1414031	G	A	1414031	3	1	328	1	0	0	0	0	1	0	0	0	3675	1203	42	4	1587	4	CNTN6	3	1414031	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	74422	1414031	196608399	474	58688											
CNTN6	27255	broad.mit.edu	37	chr3	1414581	1414581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcattcaggaaaatatctCtgcacagtacaaacaaccct	16	9	4	12	0	3	0	2	0	1	0	4	1	3	1	1	1	4	2	1	1	6	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:1414581C>T	ENST00000446702.2	+	14	2355	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	CNTN6_ENST00000350110.2_Silent_p.L576L|CNTN6_ENST00000539053.1_Silent_p.L504L			Q9UQ52	CNTN6_HUMAN	contactin 6	576	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GAAAATATCTCTGCACAGTAC	0.373													39	64					0	0	0	0	T	1414581	C	T	1414581	2	4	328	1	0	0	0	0	0	0	0	1	3675	900	32	2		2	CNTN6	3	1414581	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	550	1414581	196607849	475	58689											
LRRN1	57633	broad.mit.edu	37	chr3	3887513	3887513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcatggagcccctgtcCatgttctgtgccatgccgcc	4	11	10	16	2	2	0	1	0	1	0	3	1	3	1	6	1	3	2	6	1	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:3887513C>T	ENST00000319331.3	+	2	1949	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	396	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AGCCCCTGTCCATGTTCTGTG	0.493													30	49					0	0	0	0	T	3887513	C	T	3887513	2	4	328	1	0	0	0	0	0	0	0	1	9098	581	21	4		4	LRRN1	3	3887513	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2472932	3887513	194134917	476	58690											
ARL8B	55207	broad.mit.edu	37	chr3	5164241	5164241	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcgtggggctgcagtacTcgggcaagaccaccttcgtc	6	8	13	14	4	0	1	0	0	0	1	4	1	0	1	2	3	2	5	2	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:5164241T>C	ENST00000256496.3	+	1	337	c.91T>C	c.(91-93)Tcg>Ccg	p.S31P	ARL8B_ENST00000419534.2_Missense_Mutation_p.S31P	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	31					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		GCTGCAGTACTCGGGCAAGAC	0.667													13	23					0	0	0	0	C	5164241	T	C	5164241	3	2	328	1	0	0	0	0	1	0	0	0	951	1551	54	5	93	5	ARL8B	3	5164241	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1276728	5164241	192858189	477	58691											
SRGAP3	9901	broad.mit.edu	37	chr3	9055173	9055173	+	Missense_Mutation	SNP	C	C	T																															ggtaggcccgaagcagatggCcaggttgtagggatccatca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:9055173C>T	ENST00000383836.3	-	17	2393	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T	SRGAP3_ENST00000360413.3_Missense_Mutation_p.A632T	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	656	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AAGCAGATGGCCAGGTTGTAG	0.542			T	RAF1	pilocytic astrocytoma								19	36					0	0	0	0	T	9055173	C	T	9055173	3	4	328	1	0	0	0	0	1	0	0	0	15237	739	26	4	1357	4	SRGAP3	3	9055173	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3890932	9055173	188967257	478	58692	512	2									
SRGAP3	9901	broad.mit.edu	37	chr3	9055174	9055174	+	Silent	SNP	C	C	T																															gtaggcccgaagcagatggcCaggttgtagggatccatcat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:9055174C>T	ENST00000383836.3	-	17	2392	c.1965G>A	c.(1963-1965)ctG>ctA	p.L655L	SRGAP3_ENST00000360413.3_Silent_p.L631L	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	655	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGCAGATGGCCAGGTTGTAGG	0.542			T	RAF1	pilocytic astrocytoma								20	37					0	0	0	0	T	9055174	C	T	9055174	2	4	328	1	0	0	0	0	0	0	0	1	15237	581	21	4		4	SRGAP3	3	9055174	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	9055174	188967256	479	58693	512	2									
FANCD2	2177	broad.mit.edu	37	chr3	10105521	10105521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attcctgcagtgagcagtctCctcaggcctctgcactttac	7	12	8	14	0	3	1	1	1	2	0	5	1	4	1	3	1	4	3	3	1	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:10105521C>T	ENST00000287647.3	+	21	1966	c.1873C>T	c.(1873-1875)Cct>Tct	p.P625S	FANCD2_ENST00000383807.1_Missense_Mutation_p.P625S|FANCD2_ENST00000383806.1_Missense_Mutation_p.P625S|FANCD2_ENST00000419585.1_Missense_Mutation_p.P625S	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	625					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGAGCAGTCTCCTCAGGCCTC	0.453			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				29	45					0	0	0	0	T	10105521	C	T	10105521	3	4	328	1	0	0	0	0	1	0	0	0	5710	855	30	2	1951	2	FANCD2	3	10105521	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1050347	10105521	187916909	480	58694											
SLC6A1	6529	broad.mit.edu	37	chr3	11067193	11067193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatcatcctgttcttccgtgGagtgacgctgcccggggcca	5	10	13	13	3	2	1	1	1	1	0	4	3	4	2	4	3	1	2	4	3	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:11067193G>A	ENST00000287766.4	+	8	1194	c.773G>A	c.(772-774)gGa>gAa	p.G258E	SLC6A1_ENST00000536032.1_Missense_Mutation_p.G80E	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	258					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TTCTTCCGTGGAGTGACGCTG	0.582													12	33					0	0	0	0	A	11067193	G	A	11067193	3	1	328	1	0	0	0	0	1	0	0	0	14761	1174	41	2	795	2	SLC6A1	3	11067193	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	961672	11067193	186955237	481	58695											
SLC6A1	6529	broad.mit.edu	37	chr3	11072908	11072908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgactactactctgccagtGgcatgagcctgctgttcctc	6	13	9	13	0	1	2	0	2	1	0	3	2	2	2	3	1	5	3	3	1	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:11072908G>A	ENST00000287766.4	+	13	1790	c.1369G>A	c.(1369-1371)Ggc>Agc	p.G457S	SLC6A1_ENST00000536032.1_Missense_Mutation_p.G279S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	457					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CTCTGCCAGTGGCATGAGCCT	0.478													75	130					0	0	0	0	A	11072908	G	A	11072908	3	1	328	1	0	0	0	0	1	0	0	0	14761	1348	47	4	1411	4	SLC6A1	3	11072908	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5715	11072908	186949522	482	58696											
WNT7A	7476	broad.mit.edu	37	chr3	13860791	13860791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctccacgtgaacggcctCgttgtacttgtccttgagca	7	11	11	12	3	0	2	0	2	0	0	3	2	2	2	3	2	3	4	3	2	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:13860791C>T	ENST00000285018.4	-	4	1004	c.700G>A	c.(700-702)Gag>Aag	p.E234K		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	234					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGAACGGCCTCGTTGTACTTG	0.607													43	38					0	0	0	0	T	13860791	C	T	13860791	3	4	328	1	0	0	0	0	1	0	0	0	17490	893	31	1	353	1	WNT7A	3	13860791	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2787883	13860791	184161639	483	58697											
WNT7A	7476	broad.mit.edu	37	chr3	13916522	13916522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattgcggaactgaaactGacactcgtccaggcccattt	10	9	9	13	2	0	2	0	2	0	0	2	3	1	3	3	2	3	0	3	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:13916522G>T	ENST00000285018.4	-	2	524	c.220C>A	c.(220-222)Cag>Aag	p.Q74K	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	74					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AACTGAAACTGACACTCGTCC	0.612													25	42					1.42536e-11	1.44175e-11	1	0	T	13916522	G	T	13916522	3	4	328	1	0	0	0	0	1	0	0	0	17490	1299	45	2	841	2	WNT7A	3	13916522	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	55731	13916522	184105908	484	58698											
SLC6A6	6533	broad.mit.edu	37	chr3	14508063	14508063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttccattcgccatgctcCtggtgctgctggtccgaggg	3	13	12	13	2	0	0	0	0	0	0	4	1	3	0	4	3	3	3	4	3	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:14508063C>T	ENST00000454876.2	+	7	1101	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	SLC6A6_ENST00000360861.3_Silent_p.L258L			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	258					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CGCCATGCTCCTGGTGCTGCT	0.597													43	73					0	0	0	0	T	14508063	C	T	14508063	2	4	328	1	0	0	0	0	0	0	0	1	14776	680	24	4		4	SLC6A6	3	14508063	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	591541	14508063	183514367	485	58699											
FGD5	152273	broad.mit.edu	37	chr3	14963955	14963955	+	Missense_Mutation	SNP	C	C	T																															ggttagccttggggagaggcCccccaccctggtgcctgtca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:14963955C>T	ENST00000285046.5	+	15	3817	c.3707C>T	c.(3706-3708)cCc>cTc	p.P1236L	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.P995L|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1236					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGGAGAGGCCCCCCACCCTG	0.597													2	0					0	0	0	0	T	14963955	C	T	14963955	3	4	328	1	0	0	0	0	1	0	0	0	5881	623	22	4	3765	4	FGD5	3	14963955	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	455892	14963955	183058475	486	58700	513	2									
FGD5	152273	broad.mit.edu	37	chr3	14963956	14963956	+	Silent	SNP	C	C	T																															gttagccttggggagaggccCcccaccctggtgcctgtcac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:14963956C>T	ENST00000285046.5	+	15	3818	c.3708C>T	c.(3706-3708)ccC>ccT	p.P1236P	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Silent_p.P995P|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1236					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGAGAGGCCCCCCACCCTGG	0.597													2	0					0	0	0	0	T	14963956	C	T	14963956	2	4	328	1	0	0	0	0	0	0	0	1	5881	610	22	4		4	FGD5	3	14963956	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	14963956	183058474	487	58701	513	2									
ZFYVE20	64145	broad.mit.edu	37	chr3	15115502	15115502	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaggggttgatacaggtGggttcctcaaaggggttacc	10	10	14	7	0	2	1	2	1	0	0	3	1	3	1	2	6	2	3	2	6	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:15115502G>T	ENST00000253699.3	-	14	2755	c.2142C>A	c.(2140-2142)ccC>ccA	p.P714P	ZFYVE20_ENST00000476527.2_Silent_p.P714P	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	714	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TGATACAGGTGGGTTCCTCAA	0.562													38	70					1.66425e-11	1.68238e-11	1	0	T	15115502	G	T	15115502	2	4	328	1	0	0	0	0	0	0	0	1	17761	1335	47	4		4	ZFYVE20	3	15115502	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	151546	15115502	182906928	488	58702											
COLQ	8292	broad.mit.edu	37	chr3	15531139	15531139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttcttctgatccaggctggGaagggctgttcagagaaaac	10	10	12	9	0	3	2	1	1	2	1	4	4	4	3	1	3	1	3	1	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:15531139G>A	ENST00000383785.2	-	2	237	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	COLQ_ENST00000383787.2_Missense_Mutation_p.P38S|COLQ_ENST00000383781.4_Missense_Mutation_p.P28S|COLQ_ENST00000383786.5_Missense_Mutation_p.P38S|COLQ_ENST00000435459.2_Missense_Mutation_p.P28S|COLQ_ENST00000603808.1_Missense_Mutation_p.P38S|COLQ_ENST00000383788.5_Missense_Mutation_p.P38S			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	38					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TCCAGGCTGGGAAGGGCTGTT	0.612													11	19					0	0	0	0	A	15531139	G	A	15531139	3	1	328	1	0	0	0	0	1	0	0	0	3743	1174	41	2	1319	2	COLQ	3	15531139	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	415637	15531139	182491291	489	58703											
EFHB	151651	broad.mit.edu	37	chr3	19975465	19975465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgatgaccctcttgtctcCtaaatcatcctttccttcgt	7	16	4	14	1	3	2	1	2	2	0	7	2	5	2	4	0	0	0	4	0	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:19975465C>T	ENST00000295824.9	-	1	207	c.46G>A	c.(46-48)Gga>Aga	p.G16R	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	16					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTCTTGTCTCCTAAATCATCC	0.483													7	10					0	0	0	0	T	19975465	C	T	19975465	3	4	328	1	0	0	0	0	1	0	0	0	4981	690	24	4	2507	4	EFHB	3	19975465	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4444326	19975465	178046965	490	58704											
SGOL1	151648	broad.mit.edu	37	chr3	20225107	20225107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaatgaaaatacctgagcaGgttctactgtttgttgtgat	11	15	10	5	0	1	3	0	3	1	0	1	3	1	3	1	1	3	5	1	1	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:20225107G>A	ENST00000412997.1	-	3	683	c.332C>T	c.(331-333)cCt>cTt	p.P111L	SGOL1_ENST00000306698.2_Missense_Mutation_p.P111L|SGOL1_ENST00000383774.1_Missense_Mutation_p.P111L|SGOL1_ENST00000442720.1_Missense_Mutation_p.P111L|SGOL1_ENST00000421451.1_Missense_Mutation_p.P111L|SGOL1_ENST00000443724.1_Missense_Mutation_p.P111L|SGOL1_ENST00000437051.1_Missense_Mutation_p.P111L|SGOL1_ENST00000425061.1_Missense_Mutation_p.P111L|SGOL1_ENST00000429446.3_Missense_Mutation_p.P111L|SGOL1_ENST00000452020.1_Missense_Mutation_p.P111L|SGOL1_ENST00000263753.4_Missense_Mutation_p.P111L|SGOL1_ENST00000417364.1_Missense_Mutation_p.P111L|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000412868.1_Missense_Mutation_p.P111L|SGOL1_ENST00000419233.2_Missense_Mutation_p.P111L	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	111	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TACCTGAGCAGGTTCTACTGT	0.328													32	50					0	0	0	0	A	20225107	G	A	20225107	3	1	328	1	0	0	0	0	1	0	0	0	14303	1000	35	4	1401	4	SGOL1	3	20225107	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	249642	20225107	177797323	491	58705											
SLC4A7	9497	broad.mit.edu	37	chr3	27453223	27453223	+	Missense_Mutation	SNP	G	G	A																															tagatccattgtgaaacacaGgaatctttctcttttcctga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:27453223G>A	ENST00000295736.5	-	12	1719	c.1649C>T	c.(1648-1650)cCt>cTt	p.P550L	SLC4A7_ENST00000435667.2_Missense_Mutation_p.P435L|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P426L|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P431L|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P546L|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P431L|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P542L|SLC4A7_ENST00000425128.2_Missense_Mutation_p.P542L|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P559L|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P546L|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P100L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	550						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GTGAAACACAGGAATCTTTCT	0.418													12	22					0	0	0	0	A	27453223	G	A	27453223	3	1	328	1	0	0	0	0	1	0	0	0	14746	1000	35	4	2051	4	SLC4A7	3	27453223	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7228116	27453223	170569207	492	58706	514	2									
SLC4A7	9497	broad.mit.edu	37	chr3	27453224	27453224	+	Missense_Mutation	SNP	G	G	A																															agatccattgtgaaacacagGaatctttctcttttcctgaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:27453224G>A	ENST00000295736.5	-	12	1718	c.1648C>T	c.(1648-1650)Cct>Tct	p.P550S	SLC4A7_ENST00000435667.2_Missense_Mutation_p.P435S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P426S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P431S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P546S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P431S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P542S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.P542S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P559S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P546S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P100S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	550						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TGAAACACAGGAATCTTTCTC	0.418													12	22					0	0	0	0	A	27453224	G	A	27453224	3	1	328	1	0	0	0	0	1	0	0	0	14746	1174	41	2	2052	2	SLC4A7	3	27453224	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	27453224	170569206	493	58707	514	2									
OSBPL10	114884	broad.mit.edu	37	chr3	31871624	31871624	+	Missense_Mutation	SNP	G	G	A																															cgtgattgtgacaacaccggGggcccccacactgaggtgtc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:31871624G>A	ENST00000396556.2	-	4	759	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	213					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ACAACACCGGGGGCCCCCACA	0.582													16	27					0	0	0	0	A	31871624	G	A	31871624	3	1	328	1	0	0	0	0	1	0	0	0	11346	1232	43	4	1693	4	OSBPL10	3	31871624	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4418400	31871624	166150806	494	58708	515	2									
OSBPL10	114884	broad.mit.edu	37	chr3	31871625	31871625	+	Silent	SNP	G	G	A																															gtgattgtgacaacaccgggGgcccccacactgaggtgtct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:31871625G>A	ENST00000396556.2	-	4	758	c.636C>T	c.(634-636)gcC>gcT	p.A212A	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	212					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CAACACCGGGGGCCCCCACAC	0.582													16	30					0	0	0	0	A	31871625	G	A	31871625	2	1	328	1	0	0	0	0	0	0	0	1	11346	1219	43	4		4	OSBPL10	3	31871625	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	31871625	166150805	495	58709	515	2									
TRIM71	131405	broad.mit.edu	37	chr3	32932864	32932864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagacacgaggaaccaccGgatccagctgtttgggcctg	9	7	12	13	2	1	1	1	0	0	1	2	4	2	3	4	3	2	2	4	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:32932864G>A	ENST00000383763.4	+	4	2231	c.2168G>A	c.(2167-2169)cGg>cAg	p.R723Q		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	723					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGAACCACCGGATCCAGCTG	0.542													16	19					0	0	0	0	A	32932864	G	A	32932864	3	1	328	1	0	0	0	0	1	0	0	0	16639	1116	39	1	2182	1	TRIM71	3	32932864	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1061239	32932864	165089566	496	58710											
CCR4	1233	broad.mit.edu	37	chr3	32995561	32995561	+	Missense_Mutation	SNP	G	G	A																															cggattggtgatccccttagGgatcatgctgttttgctact																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:32995561G>A	ENST00000330953.5	+	2	815	c.647G>A	c.(646-648)gGg>gAg	p.G216E		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	216					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						ATCCCCTTAGGGATCATGCTG	0.468													38	65					0	0	0	0	A	32995561	G	A	32995561	3	1	328	1	0	0	0	0	1	0	0	0	2972	1232	43	4	649	4	CCR4	3	32995561	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	62697	32995561	165026869	497	58711	516	2									
CCR4	1233	broad.mit.edu	37	chr3	32995562	32995562	+	Silent	SNP	G	G	A																															ggattggtgatccccttaggGatcatgctgttttgctactc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:32995562G>A	ENST00000330953.5	+	2	816	c.648G>A	c.(646-648)ggG>ggA	p.G216G		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	216					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TCCCCTTAGGGATCATGCTGT	0.473													41	66					0	0	0	0	A	32995562	G	A	32995562	2	1	328	1	0	0	0	0	0	0	0	1	2972	1161	41	2		2	CCR4	3	32995562	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	32995562	165026868	498	58712	516	2									
TMPPE	643853	broad.mit.edu	37	chr3	33135676	33135676	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcctagggacagctgcctGaagatggccattttctctgc	7	10	12	12	1	1	2	0	1	1	1	2	3	1	3	3	2	3	1	3	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:33135676G>A	ENST00000342462.4	-	2	202	c.12C>T	c.(10-12)ttC>ttT	p.F4F	GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	4						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						ACAGCTGCCTGAAGATGGCCA	0.572													25	41					0	0	0	0	A	33135676	G	A	33135676	2	1	328	1	0	0	0	0	0	0	0	1	16332	1281	45	2		2	TMPPE	3	33135676	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	140114	33135676	164886754	499	58713											
ARPP21	10777	broad.mit.edu	37	chr3	35724377	35724377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaatcaagaaagaagaaaatCcaaggtagggttcttaacat	19	8	9	5	0	2	3	1	0	1	3	3	4	3	3	1	2	1	2	1	2	9	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:35724377C>T	ENST00000187397.4	+	4	623	c.167C>T	c.(166-168)tCc>tTc	p.S56F	ARPP21_ENST00000432682.1_Missense_Mutation_p.S56F|ARPP21_ENST00000438071.1_Missense_Mutation_p.S56F|ARPP21_ENST00000412048.1_Missense_Mutation_p.S56F|ARPP21_ENST00000458225.1_Missense_Mutation_p.S56F|ARPP21_ENST00000396481.2_Missense_Mutation_p.S56F|ARPP21_ENST00000441454.1_Missense_Mutation_p.S56F|ARPP21_ENST00000474696.1_Missense_Mutation_p.S56F|ARPP21_ENST00000436702.1_Missense_Mutation_p.S56F|ARPP21_ENST00000427542.1_Missense_Mutation_p.S56F|ARPP21_ENST00000417925.1_Missense_Mutation_p.S56F|ARPP21_ENST00000337271.5_Missense_Mutation_p.S56F|ARPP21_ENST00000444190.1_Missense_Mutation_p.S56F|ARPP21_ENST00000428373.1_Missense_Mutation_p.S56F|ARPP21_ENST00000396482.2_Missense_Mutation_p.S56F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	56						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGAAGAAAATCCAAGGTAGGG	0.328													14	43					0	0	0	0	T	35724377	C	T	35724377	3	4	328	1	0	0	0	0	1	0	0	0	982	855	30	2	173	2	ARPP21	3	35724377	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2588701	35724377	162298053	500	58714											
ITGA9	3680	broad.mit.edu	37	chr3	37514891	37514891	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacctgccgggaagaccgCgatgatgagtggatgggggt	10	6	18	7	3	0	4	0	2	0	2	0	7	0	6	3	4	1	0	3	4	2	0	rs140343057	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:37514891C>G	ENST00000264741.5	+	3	616	c.360C>G	c.(358-360)cgC>cgG	p.R120R	ITGA9_ENST00000422441.1_Silent_p.R120R	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	120					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGGAAGACCGCGATGATGAGT	0.622													17	40					0	0	0	0	G	37514891	C	G	37514891	2	3	328	1	0	0	0	0	0	0	0	1	7936	755	27	3		3	ITGA9	3	37514891	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1790514	37514891	160507539	501	58715											
DLEC1	9940	broad.mit.edu	37	chr3	38136501	38136501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccttctccatcatgcccaGaaagggggttctaagccccc	8	9	9	15	0	3	1	1	0	2	1	4	1	3	1	5	2	3	1	5	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:38136501G>A	ENST00000308059.6	+	13	2072	c.2051G>A	c.(2050-2052)aGa>aAa	p.R684K	DLEC1_ENST00000452631.2_Missense_Mutation_p.R684K|DLEC1_ENST00000346219.3_Missense_Mutation_p.R684K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	684					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATCATGCCCAGAAAGGGGGTT	0.537													24	30					0	0	0	0	A	38136501	G	A	38136501	3	1	328	1	0	0	0	0	1	0	0	0	4589	942	33	2	2101	2	DLEC1	3	38136501	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	621610	38136501	159885929	502	58716											
SCN5A	6331	broad.mit.edu	37	chr3	38648264	38648264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagccgtggtcggggttctCgcctgcctttaggcaccggt	3	11	15	12	4	1	0	0	0	1	0	3	0	1	0	4	5	2	3	4	5	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:38648264C>T	ENST00000413689.1	-	9	1229	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	SCN5A_ENST00000425664.1_Missense_Mutation_p.E346K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E346K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E346K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E346K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E346K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E346K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E346K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E346K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E346K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	346					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCGGGGTTCTCGCCTGCCTTT	0.602													28	48					0	0	0	0	T	38648264	C	T	38648264	3	4	328	1	0	0	0	0	1	0	0	0	14009	893	31	1	5094	1	SCN5A	3	38648264	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	511763	38648264	159374166	503	58717											
SCN10A	6336	broad.mit.edu	37	chr3	38805034	38805034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttaatgctctaagaactCtgaatgtccgcaggcctgag	10	13	9	9	1	2	3	0	2	2	1	3	3	3	3	2	1	2	2	2	1	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:38805034C>T	ENST00000449082.2	-	5	652	c.653G>A	c.(652-654)aGa>aAa	p.R218K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	218					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTAAGAACTCTGAATGTCCG	0.453													34	66					0	0	0	0	T	38805034	C	T	38805034	3	4	328	1	0	0	0	0	1	0	0	0	13999	913	32	2	5309	2	SCN10A	3	38805034	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	156770	38805034	159217396	504	58718											
SCN11A	11280	broad.mit.edu	37	chr3	38938499	38938499	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcccccatgtgccagtgcCgtaaacatgagactgtcggg	10	8	11	12	2	0	1	0	1	0	1	2	2	1	1	4	1	3	1	4	1	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:38938499C>A	ENST00000302328.3	-	14	2438	c.2240G>T	c.(2239-2241)cGg>cTg	p.R747L	SCN11A_ENST00000444237.2_Missense_Mutation_p.R747L|SCN11A_ENST00000456224.3_Missense_Mutation_p.R747L|SCN11A_ENST00000450244.1_Missense_Mutation_p.R747L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	747					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTGCCAGTGCCGTAAACATGA	0.493													19	35					4.96729e-08	5.00323e-08	1	0	A	38938499	C	A	38938499	3	1	328	1	0	0	0	0	1	0	0	0	14000	652	23	3	3187	3	SCN11A	3	38938499	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	133465	38938499	159083931	505	58719											
ZNF662	389114	broad.mit.edu	37	chr3	42954791	42954791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agggtccaagcctgatttgtCcgggtaagtgagagggaaat	11	9	15	6	1	0	2	0	2	0	1	2	4	2	3	3	3	1	1	3	3	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:42954791C>T	ENST00000541208.1	+	4	619	c.250C>T	c.(250-252)Ccg>Tcg	p.P84S	ZNF662_ENST00000440367.2_Missense_Mutation_p.P84S|ZNF662_ENST00000328199.6_Intron|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CCTGATTTGTCCGGGTAAGTG	0.423													19	33					0	0	0	0	T	42954791	C	T	42954791	3	4	328	1	0	0	0	0	1	0	0	0	18166	855	30	2	447	2	ZNF662	3	42954791	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4016292	42954791	155067639	506	58720											
ZNF445	353274	broad.mit.edu	37	chr3	44496896	44496896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaacagctcctggccaGggcggttgagagtctgtggc	6	7	18	10	2	1	1	0	1	1	1	2	3	2	2	2	6	2	2	2	6	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:44496896G>A	ENST00000425708.2	-	2	487	c.146C>T	c.(145-147)cCt>cTt	p.P49L	ZNF445_ENST00000396077.2_Missense_Mutation_p.P49L			P59923	ZN445_HUMAN	zinc finger protein 445	49					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTCCTGGCCAGGGCGGTTGAG	0.587													44	74					0	0	0	0	A	44496896	G	A	44496896	3	1	328	1	0	0	0	0	1	0	0	0	18013	1000	35	4	2973	4	ZNF445	3	44496896	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1542105	44496896	153525534	507	58721											
ZNF660	285349	broad.mit.edu	37	chr3	44636095	44636095	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagaaaacttatgaatgtaAagagtgtgggaaagccttta	16	10	12	3	0	0	3	0	1	0	2	0	5	0	4	1	2	2	1	1	2	8	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:44636095A>T	ENST00000322734.2	+	3	743	c.410A>T	c.(409-411)aAa>aTa	p.K137I	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TATGAATGTAAAGAGTGTGGG	0.458													31	55					0	0	0	0	T	44636095	A	T	44636095	3	4	328	1	0	0	0	0	1	0	0	0	18165	14	1	5	412	5	ZNF660	3	44636095	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	139199	44636095	153386335	508	58722											
ZDHHC3	51304	broad.mit.edu	37	chr3	44986676	44986676	+	Nonsense_Mutation	SNP	G	G	A																															gtacctgcagtggtgggctcGgtcgggcttgatgctgcagc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:44986676G>A	ENST00000296127.3	-	3	688	c.415C>T	c.(415-417)Cga>Tga	p.R139*	ZDHHC3_ENST00000424952.2_Nonsense_Mutation_p.R139*|ZDHHC3_ENST00000342790.4_Nonsense_Mutation_p.R173*	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	139						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		TGGTGGGCTCGGTCGGGCTTG	0.582													44	64					0	0	0	0	A	44986676	G	A	44986676	4	1	328	1	0	0	0	0	0	1	0	0	17711	1124	39	1	845	1	ZDHHC3	3	44986676	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	350581	44986676	153035754	509	58723	517	2									
ZDHHC3	51304	broad.mit.edu	37	chr3	44986677	44986677	+	Silent	SNP	G	G	A																															tacctgcagtggtgggctcgGtcgggcttgatgctgcagca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:44986677G>A	ENST00000296127.3	-	3	687	c.414C>T	c.(412-414)gaC>gaT	p.D138D	ZDHHC3_ENST00000424952.2_Silent_p.D138D|ZDHHC3_ENST00000342790.4_Silent_p.D172D	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	138						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GGTGGGCTCGGTCGGGCTTGA	0.577													47	64					0	0	0	0	A	44986677	G	A	44986677	2	1	328	1	0	0	0	0	0	0	0	1	17711	1252	44	4		4	ZDHHC3	3	44986677	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	44986677	153035753	510	58724	517	2									
EXOSC7	23016	broad.mit.edu	37	chr3	45052822	45052822	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagagacagaaagttggattCctgggatgatttgcacatca	14	10	11	6	0	1	3	1	1	0	2	2	6	2	5	1	2	1	2	1	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:45052822C>T	ENST00000265564.7	+	8	915	c.867C>T	c.(865-867)ttC>ttT	p.F289F	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	289					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		AAGTTGGATTCCTGGGATGAT	0.448													10	18					0	0	0	0	T	45052822	C	T	45052822	2	4	328	1	0	0	0	0	0	0	0	1	5357	854	30	2		2	EXOSC7	3	45052822	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	66145	45052822	152969608	511	58725											
LARS2	23395	broad.mit.edu	37	chr3	45530194	45530194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctcctctgaataggaattCccagtactagctcagaggac	11	11	8	11	0	3	2	1	1	2	1	5	4	4	4	2	2	2	2	2	2	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:45530194C>T	ENST00000415258.1	+	11	1270	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	LARS2_ENST00000414984.1_Missense_Mutation_p.P334S|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.P377S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	377					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AATAGGAATTCCCAGTACTAG	0.458													21	45					0	0	0	0	T	45530194	C	T	45530194	3	4	328	1	0	0	0	0	1	0	0	0	8688	855	30	2	1167	2	LARS2	3	45530194	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	477372	45530194	152492236	512	58726											
CCR9	10803	broad.mit.edu	37	chr3	45942754	45942754	+	Silent	SNP	G	G	A																															atgagagcacatacttggagGgagaaaaggcttttgtacag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:45942754G>A	ENST00000357632.2	+	3	654	c.474G>A	c.(472-474)agG>agA	p.R158R	CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Silent_p.R146R|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Silent_p.R146R|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	158					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		ATACTTGGAGGGAGAAAAGGC	0.468													25	31					0	0	0	0	A	45942754	G	A	45942754	2	1	328	1	0	0	0	0	0	0	0	1	2977	1223	43	4		4	CCR9	3	45942754	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	412560	45942754	152079676	513	58727	518	2									
CCR9	10803	broad.mit.edu	37	chr3	45942755	45942755	+	Missense_Mutation	SNP	G	G	A																															tgagagcacatacttggaggGagaaaaggcttttgtacagc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:45942755G>A	ENST00000357632.2	+	3	655	c.475G>A	c.(475-477)Gag>Aag	p.E159K	CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Missense_Mutation_p.E147K|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.E147K|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	159					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TACTTGGAGGGAGAAAAGGCT	0.468													25	30					0	0	0	0	A	45942755	G	A	45942755	3	1	328	1	0	0	0	0	1	0	0	0	2977	1175	41	2	481	2	CCR9	3	45942755	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	45942755	152079675	514	58728	518	2									
FYCO1	79443	broad.mit.edu	37	chr3	46008174	46008174	+	Silent	SNP	G	G	A																															tgctccagctgtgcttcctcGgagctgcatttggcctggga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46008174G>A	ENST00000296137.2	-	8	2857	c.2652C>T	c.(2650-2652)tcC>tcT	p.S884S	FYCO1_ENST00000535325.1_Silent_p.S884S	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	884					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTGCTTCCTCGGAGCTGCATT	0.657													13	23					0	0	0	0	A	46008174	G	A	46008174	2	1	328	1	0	0	0	0	0	0	0	1	6173	1103	39	1		1	FYCO1	3	46008174	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	65419	46008174	152014256	515	58729	519	2									
FYCO1	79443	broad.mit.edu	37	chr3	46008175	46008175	+	Missense_Mutation	SNP	G	G	A																															gctccagctgtgcttcctcgGagctgcatttggcctgggac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46008175G>A	ENST00000296137.2	-	8	2856	c.2651C>T	c.(2650-2652)tCc>tTc	p.S884F	FYCO1_ENST00000535325.1_Missense_Mutation_p.S884F	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	884					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCTTCCTCGGAGCTGCATTT	0.657													11	23					0	0	0	0	A	46008175	G	A	46008175	3	1	328	1	0	0	0	0	1	0	0	0	6173	1174	41	2	1829	2	FYCO1	3	46008175	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	46008175	152014255	516	58730	519	2									
XCR1	2829	broad.mit.edu	37	chr3	46062478	46062478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cataggcgaaggcaccagggGagtgggggatcgaggctggg	9	4	21	7	2	0	0	0	0	0	0	1	4	0	2	1	8	0	2	1	8	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46062478G>A	ENST00000309285.3	-	2	1318	c.962C>T	c.(961-963)tCc>tTc	p.S321F	XCR1_ENST00000542109.1_Missense_Mutation_p.S321F	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	321					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGCACCAGGGGAGTGGGGGAT	0.647													6	13					0	0	0	0	A	46062478	G	A	46062478	3	1	328	1	0	0	0	0	1	0	0	0	17521	1174	41	2	43	2	XCR1	3	46062478	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	54303	46062478	151959952	517	58731											
LTF	4057	broad.mit.edu	37	chr3	46486873	46486873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacttcttgcctttcacaGagttccaggtaaggctagtg	9	12	11	9	0	2	1	1	0	1	1	3	2	3	2	2	3	1	3	2	3	2	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46486873G>A	ENST00000231751.4	-	12	1707	c.1412C>T	c.(1411-1413)tCt>tTt	p.S471F	LTF_ENST00000417439.1_Missense_Mutation_p.S469F|LTF_ENST00000426532.2_Missense_Mutation_p.S427F	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	471	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GCCTTTCACAGAGTTCCAGGT	0.527													23	49					0	0	0	0	A	46486873	G	A	46486873	3	1	328	1	0	0	0	0	1	0	0	0	9143	942	33	2	744	2	LTF	3	46486873	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	424395	46486873	151535557	518	58732											
LTF	4057	broad.mit.edu	37	chr3	46497462	46497462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacggcataatagtgagttCgtggctctgcaaaggggcag	10	8	14	9	2	1	1	0	1	1	0	2	1	1	1	1	4	1	5	1	4	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46497462C>T	ENST00000231751.4	-	4	618	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	LTF_ENST00000417439.1_Missense_Mutation_p.R108Q|LTF_ENST00000426532.2_Missense_Mutation_p.R64Q	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	108	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ATAGTGAGTTCGTGGCTCTGC	0.537													12	12					0	0	0	0	T	46497462	C	T	46497462	3	4	328	1	0	0	0	0	1	0	0	0	9143	884	31	1	1865	1	LTF	3	46497462	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	10589	46497462	151524968	519	58733											
PRSS50	29122	broad.mit.edu	37	chr3	46755991	46755991	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgagtagataacatcacgCctaggggggccgtgagggga	11	6	16	8	2	1	3	1	2	0	1	1	4	1	4	2	5	1	1	2	5	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46755991C>T	ENST00000460241.1	-	9	2141	c.470_splice	c.e9-1	p.W157_splice	PRSS50_ENST00000315170.7_Splice_Site_p.W157_splice			Q9UI38	TSP50_HUMAN	protease, serine, 50	157	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TAACATCACGCCTAGGGGGGC	0.637													6	6					0	0	0	0	T	46755991	C	T	46755991	5	4	328	1	0	0	0	0	0	0	1	0	12710	753	26	4	698	4	PRSS50	3	46755991	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	258529	46755991	151266439	520	58734											
PRSS45	377047	broad.mit.edu	37	chr3	46784468	46784468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggacaagggggacaactgGggggaagaaggacttcttgt	12	6	17	6	0	1	1	0	0	1	1	1	5	1	5	0	7	1	0	0	7	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46784468G>A	ENST00000442359.2	-	3	387	c.388C>T	c.(388-390)Cca>Tca	p.P130S	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	162	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GGGACAACTGGGGGGAAGAAG	0.527													16	31					0	0	0	0	A	46784468	G	A	46784468	3	1	328	1	0	0	0	0	1	0	0	0	12708	1232	43	4	306	4	PRSS45	3	46784468	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	28477	46784468	151237962	521	58735											
SETD2	29072	broad.mit.edu	37	chr3	47163677	47163677	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctatttgaagaaatcttcaTaactgaaggctcaatatttt	14	15	6	6	0	3	3	2	2	1	1	3	3	3	3	0	1	1	2	0	1	7	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:47163677T>A	ENST00000409792.3	-	3	2491	c.2449A>T	c.(2449-2451)Atg>Ttg	p.M817L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAAATCTTCATAACTGAAGGC	0.333			"N, F, S, Mis"		clear cell renal carcinoma								26	35					0	0	0	0	A	47163677	T	A	47163677	3	1	328	1	0	0	0	0	1	0	0	0	14218	1406	49	5	5321	5	SETD2	3	47163677	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	379209	47163677	150858753	522	58736											
PTPN23	25930	broad.mit.edu	37	chr3	47450663	47450663	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccacagaggacaaggcCgtgctgcaaaacctaaagcg	13	4	11	13	2	0	1	0	0	0	1	0	2	0	2	3	2	5	2	3	2	5	1	rs141629698		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:47450663C>T	ENST00000265562.4	+	17	1730	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	PTPN23_ENST00000431726.1_Silent_p.A425A	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	551					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGACAAGGCCGTGCTGCAAA	0.622													19	41					0	0	0	0	T	47450663	C	T	47450663	2	4	328	1	0	0	0	0	0	0	0	1	12870	639	23	1		1	PTPN23	3	47450663	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	286986	47450663	150571767	523	58737											
SCAP	22937	broad.mit.edu	37	chr3	47462202	47462202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgtagcgcgttggctgtcCcactggcttggctgagggca	4	10	15	12	3	0	1	0	1	0	0	2	1	1	1	1	4	1	6	1	4	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:47462202C>T	ENST00000265565.5	-	12	1817	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Missense_Mutation_p.G214R|SCAP_ENST00000545718.1_Missense_Mutation_p.G77R	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	469					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	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi 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)		GTTGGCTGTCCCACTGGCTTG	0.652											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	40					0	0	0	0	T	47462202	C	T	47462202	3	4	328	1	0	0	0	0	1	0	0	0	13963	632	22	4	2482	4	SCAP	3	47462202	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	11539	47462202	150560228	524	58738											
PLXNB1	5364	broad.mit.edu	37	chr3	48456348	48456348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaagaccaggttgtcaaGgataaattccacccggaccc	13	7	9	12	1	2	1	2	0	0	1	3	3	3	3	4	3	0	1	4	3	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:48456348G>A	ENST00000358536.4	-	21	4338	c.4069C>T	c.(4069-4071)Ctt>Ttt	p.L1357F	PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1357F|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1174F|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1174F	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1357	IPT/TIG 3.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTTGTCAAGGATAAATTCC	0.602													36	74					0	0	0	0	A	48456348	G	A	48456348	3	1	328	1	0	0	0	0	1	0	0	0	12195	1000	35	4	2410	4	PLXNB1	3	48456348	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	994146	48456348	149566082	525	58739											
COL7A1	1294	broad.mit.edu	37	chr3	48617032	48617032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacactcaccctttccccagGggctccagggaggccaggat	8	6	11	16	0	1	0	1	0	0	0	3	2	3	2	5	5	0	1	5	5	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:48617032G>A	ENST00000328333.8	-	58	5331	c.5224C>T	c.(5224-5226)Cct>Tct	p.P1742S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1742S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1742	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTTCCCCAGGGGCTCCAGGG	0.622													23	37					0	0	0	0	A	48617032	G	A	48617032	3	1	328	1	0	0	0	0	1	0	0	0	3734	1232	43	4	3854	4	COL7A1	3	48617032	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	160684	48617032	149405398	526	58740											
DALRD3	55152	broad.mit.edu	37	chr3	49054727	49054727	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttctgttgctggaactcCtcctcacagctaacaacatg	11	11	6	13	0	2	0	1	0	1	0	4	1	4	1	2	1	6	3	2	1	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49054727C>T	ENST00000440857.1	-	6	1062	c.360G>A	c.(358-360)gaG>gaA	p.E120E	DALRD3_ENST00000395462.4_Silent_p.E120E|DALRD3_ENST00000313778.5_Silent_p.E120E|DALRD3_ENST00000441576.2_Silent_p.E287E|DALRD3_ENST00000341949.4_Silent_p.E287E			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	287					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTGGAACTCCTCCTCACAGC	0.507													40	72					0	0	0	0	T	49054727	C	T	49054727	2	4	328	1	0	0	0	0	0	0	0	1	4262	680	24	4		4	DALRD3	3	49054727	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	437695	49054727	148967703	527	58741											
DALRD3	55152	broad.mit.edu	37	chr3	49055218	49055218	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggaggaagctctctccgaGgcagcgggccagtccacccg	7	5	15	14	3	1	0	0	0	1	0	4	3	3	2	4	4	2	2	4	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49055218G>A	ENST00000440857.1	-	4	747	c.45C>T	c.(43-45)gcC>gcT	p.A15A	DALRD3_ENST00000395462.4_Silent_p.A15A|DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000313778.5_Silent_p.A15A|DALRD3_ENST00000441576.2_Silent_p.A182A|DALRD3_ENST00000341949.4_Silent_p.A182A			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	182					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCTCTCCGAGGCAGCGGGCC	0.642													12	24					0	0	0	0	A	49055218	G	A	49055218	2	1	328	1	0	0	0	0	0	0	0	1	4262	987	35	4		4	DALRD3	3	49055218	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	491	49055218	148967212	528	58742											
USP19	10869	broad.mit.edu	37	chr3	49152479	49152479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgtgcagcccatccagcagGaaagccatgaactcctgggc	10	6	11	14	1	0	1	0	1	0	0	3	2	2	2	4	2	5	2	4	2	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49152479G>A	ENST00000453664.1	-	14	2376	c.2058C>T	c.(2056-2058)ttC>ttT	p.F686F	USP19_ENST00000398892.3_Silent_p.F635F|USP19_ENST00000398888.2_Silent_p.F595F|USP19_ENST00000434032.2_Silent_p.F696F|USP19_ENST00000417901.1_Silent_p.F698F|USP19_ENST00000398898.2_Silent_p.F635F|USP19_ENST00000398896.1_Silent_p.F403F	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	595					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATCCAGCAGGAAAGCCATGA	0.567													14	44					0	0	0	0	A	49152479	G	A	49152479	2	1	328	1	0	0	0	0	0	0	0	1	17146	1165	41	2		2	USP19	3	49152479	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	97261	49152479	148869951	529	58743											
NICN1	84276	broad.mit.edu	37	chr3	49463814	49463814	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaggtgtactgacggacacgGatgctcaaaaaagctgtgta	13	8	13	7	2	1	1	1	1	0	0	1	4	1	3	0	3	3	4	0	3	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49463814G>A	ENST00000273598.3	-	2	266	c.180C>T	c.(178-180)atC>atT	p.I60I	NICN1_ENST00000436744.2_Silent_p.I60I|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	60						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GACGGACACGGATGCTCAAAA	0.532													18	34					0	0	0	0	A	49463814	G	A	49463814	2	1	328	1	0	0	0	0	0	0	0	1	10483	1164	41	2		2	NICN1	3	49463814	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	311335	49463814	148558616	530	58744											
DAG1	1605	broad.mit.edu	37	chr3	49569013	49569013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caacagagaccatggctcctCcagtcagggatcctgttcct	9	9	9	14	0	1	1	1	0	0	1	5	3	5	2	5	2	1	2	5	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49569013C>T	ENST00000545947.1	+	6	1791	c.1069C>T	c.(1069-1071)Cca>Tca	p.P357S	DAG1_ENST00000541308.1_Missense_Mutation_p.P357S|DAG1_ENST00000538711.1_Missense_Mutation_p.P357S|DAG1_ENST00000539901.1_Missense_Mutation_p.P357S|DAG1_ENST00000308775.2_Missense_Mutation_p.P357S|DAG1_ENST00000515359.2_Missense_Mutation_p.P357S	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	357	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATGGCTCCTCCAGTCAGGGA	0.612													56	101					0	0	0	0	T	49569013	C	T	49569013	3	4	328	1	0	0	0	0	1	0	0	0	4258	855	30	2	1075	2	DAG1	3	49569013	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	105199	49569013	148453417	531	58745											
MST1R	4486	broad.mit.edu	37	chr3	49934739	49934739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagacactcagtcccattGaccagcacagcccggctggt	10	6	10	15	1	1	2	1	1	0	1	2	2	2	2	3	2	3	3	3	2	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49934739G>A	ENST00000296474.3	-	7	2184	c.2157C>T	c.(2155-2157)gtC>gtT	p.V719V	MST1R_ENST00000344206.4_Silent_p.V719V	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	719	IPT/TIG 2.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAGTCCCATTGACCAGCACAG	0.602													29	66					0	0	0	0	A	49934739	G	A	49934739	2	1	328	1	0	0	0	0	0	0	0	1	9961	1277	45	2		2	MST1R	3	49934739	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	365726	49934739	148087691	532	58746											
RBM5	10181	broad.mit.edu	37	chr3	50131164	50131164	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaactcagagagagcgtgaAagaaggaacagtgaccgatc	16	5	13	7	2	1	5	1	2	0	3	2	8	1	6	1	1	3	1	1	1	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:50131164A>T	ENST00000347869.3	+	4	370	c.195A>T	c.(193-195)gaA>gaT	p.E65D	RBM5_ENST00000469838.1_Missense_Mutation_p.E65D	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	65					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGAGCGTGAAAGAAGGAACA	0.443													44	88					0	0	0	0	T	50131164	A	T	50131164	3	4	328	1	0	0	0	0	1	0	0	0	13225	11	1	5	205	5	RBM5	3	50131164	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	196425	50131164	147891266	533	58747											
GNAT1	2779	broad.mit.edu	37	chr3	50230823	50230823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacactcaacatccagtacgGagactctgcacgccaggtgt	11	7	9	14	2	2	1	1	0	1	1	3	2	3	1	2	2	3	2	2	2	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:50230823G>A	ENST00000232461.3	+	3	389	c.275G>A	c.(274-276)gGa>gAa	p.G92E	GNAT1_ENST00000433068.1_Missense_Mutation_p.G92E	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	92					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATCCAGTACGGAGACTCTGCA	0.647													26	30					0	0	0	0	A	50230823	G	A	50230823	3	1	328	1	0	0	0	0	1	0	0	0	6562	1174	41	2	285	2	GNAT1	3	50230823	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	99659	50230823	147791607	534	58748											
HYAL3	8372	broad.mit.edu	37	chr3	50330826	50330826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctgtcctggatctcgccGggcacagcgcccgtggccat	5	8	12	16	4	2	0	0	0	2	0	4	1	3	1	4	3	1	1	4	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:50330826G>A	ENST00000336307.1	-	4	1377	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	HYAL3_ENST00000359051.3_Missense_Mutation_p.R339W|HYAL3_ENST00000415204.1_Missense_Mutation_p.R120W|HYAL3_ENST00000450982.1_Missense_Mutation_p.R339W|HYAL3_ENST00000513170.1_Missense_Mutation_p.R90W	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	369	EGF-like.				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGATCTCGCCGGGCACAGCGC	0.617													22	32					0	0	0	0	A	50330826	G	A	50330826	3	1	328	1	0	0	0	0	1	0	0	0	7518	1115	39	1	152	1	HYAL3	3	50330826	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	100003	50330826	147691604	535	58749											
NAT6	24142	broad.mit.edu	37	chr3	50334273	50334273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggaaggcattaagcaGggtggcaggcagccgtctgc	8	7	18	8	1	1	0	0	0	1	0	1	1	1	1	1	6	3	4	1	6	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:50334273G>A	ENST00000443842.1	-	2	1429	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	NAT6_ENST00000443094.2_Silent_p.L208L|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000354862.4_Silent_p.L230L|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000450982.1_Intron|NAT6_ENST00000417393.1_Silent_p.L208L					N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCATTAAGCAGGGTGGCAGGC	0.647													12	36					0	0	0	0	A	50334273	G	A	50334273	2	1	328	1	0	0	0	0	0	0	0	1	10248	991	35	4		4	NAT6	3	50334273	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3447	50334273	147688157	536	58750											
TMEM115	11070	broad.mit.edu	37	chr3	50392780	50392780	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggtctggagttacagCgtcgggggagctgcctcgaa	8	8	17	8	3	1	0	0	0	1	0	3	3	1	2	1	5	4	2	1	5	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:50392780C>T	ENST00000266025.3	-	2	1596	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	350					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGAGTTACAGCGTCGGGGGAG	0.632													6	47					0	0	0	0	T	50392780	C	T	50392780	2	4	328	1	0	0	0	0	0	0	0	1	16123	755	27	1		1	TMEM115	3	50392780	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	58507	50392780	147629650	537	58751											
DOCK3	1795	broad.mit.edu	37	chr3	51197996	51197996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgcccaaggccggatgctCctgaacgactcaaagaaagg	12	6	12	11	2	1	2	1	1	0	1	2	4	2	3	3	3	3	1	3	3	4	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:51197996C>T	ENST00000266037.9	+	12	923	c.900C>T	c.(898-900)ctC>ctT	p.L300L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	300						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCCGGATGCTCCTGAACGACT	0.517													10	10					0	0	0	0	T	51197996	C	T	51197996	2	4	328	1	0	0	0	0	0	0	0	1	4724	842	30	2		2	DOCK3	3	51197996	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	805216	51197996	146824434	538	58752											
VPRBP	9730	broad.mit.edu	37	chr3	51440675	51440675	+	Missense_Mutation	SNP	G	G	A																															ttgctagctcctcatcagagGgagagaagtcattgtcccca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:51440675G>A	ENST00000335891.5	-	16	3029	c.3020C>T	c.(3019-3021)cCc>cTc	p.P1007L				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1456					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTCATCAGAGGGAGAGAAGTC	0.532													14	16					0	0	0	0	A	51440675	G	A	51440675	3	1	328	1	0	0	0	0	1	0	0	0	17281	1232	43	4	164	4	VPRBP	3	51440675	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	242679	51440675	146581755	539	58753	520	2									
VPRBP	9730	broad.mit.edu	37	chr3	51440676	51440676	+	Missense_Mutation	SNP	G	G	A																															tgctagctcctcatcagaggGagagaagtcattgtccccat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:51440676G>A	ENST00000335891.5	-	16	3028	c.3019C>T	c.(3019-3021)Ccc>Tcc	p.P1007S				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1456					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCATCAGAGGGAGAGAAGTCA	0.532													15	15					0	0	0	0	A	51440676	G	A	51440676	3	1	328	1	0	0	0	0	1	0	0	0	17281	1174	41	2	165	2	VPRBP	3	51440676	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	51440676	146581754	540	58754	520	2									
RAD54L2	23132	broad.mit.edu	37	chr3	51696445	51696445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctacattttgtccccaggttCccagggaccttcttgcgagt	6	13	9	13	1	1	0	0	0	1	0	3	2	3	1	4	2	2	1	4	2	1	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:51696445C>T	ENST00000409535.1	+	22	3538	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F	RAD54L2_ENST00000296477.3_Missense_Mutation_p.S832F	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1138						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCCCCAGGTTCCCAGGGACCT	0.542													25	43					0	0	0	0	T	51696445	C	T	51696445	3	4	328	1	0	0	0	0	1	0	0	0	13076	855	30	2	3495	2	RAD54L2	3	51696445	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	255769	51696445	146325985	541	58755											
GRM2	2912	broad.mit.edu	37	chr3	51749464	51749464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgcttcgaactgccccagGagtacatccgctggggcgat	7	8	13	13	3	0	0	0	0	0	0	2	3	1	1	3	3	4	4	3	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:51749464G>A	ENST00000395052.3	+	4	1909	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	559					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	ACTGCCCCAGGAGTACATCCG	0.622													30	40					0	0	0	0	A	51749464	G	A	51749464	3	1	328	1	0	0	0	0	1	0	0	0	6847	1175	41	2	1685	2	GRM2	3	51749464	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	53019	51749464	146272966	542	58756											
DUSP7	1849	broad.mit.edu	37	chr3	52089869	52089869	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtgccgccctcaccttGgaggtagtaggcctggcagc	5	8	14	14	2	1	0	1	0	0	0	2	1	1	1	4	5	2	3	4	5	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:52089869G>A	ENST00000495880.1	-	1	697	c.514C>T	c.(514-516)Caa>Taa	p.Q172*	DUSP7_ENST00000296483.6_Nonsense_Mutation_p.Q121*			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	172	Rhodanese.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCTCACCTTGGAGGTAGTAG	0.736													8	12					0	0	0	0	A	52089869	G	A	52089869	4	1	328	1	0	0	0	0	0	1	0	0	4866	1357	47	4	757	4	DUSP7	3	52089869	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	340405	52089869	145932561	543	58757											
STAB1	23166	broad.mit.edu	37	chr3	52557097	52557097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggatcagcacgtgcaatGggaagctgctggatgtgctg	9	8	16	8	2	1	0	1	0	0	0	1	3	1	3	0	3	5	5	0	3	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:52557097G>T	ENST00000321725.6	+	63	7043	c.6967G>T	c.(6967-6969)Ggg>Tgg	p.G2323W		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2323	FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACGTGCAATGGGAAGCTGCT	0.627													43	85					3.05275e-18	3.11142e-18	1	0	T	52557097	G	T	52557097	3	4	328	1	0	0	0	0	1	0	0	0	15327	1348	47	4	7217	4	STAB1	3	52557097	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	467228	52557097	145465333	544	58758											
ITIH4	3700	broad.mit.edu	37	chr3	52858009	52858009	+	Missense_Mutation	SNP	G	G	T																															gttattctggatgctcctggGgttagtctcccctggaccca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:52858009G>T	ENST00000266041.4	-	10	1279	c.1183C>A	c.(1183-1185)Ccc>Acc	p.P395T	ITIH4_ENST00000485816.1_Missense_Mutation_p.P395T|ITIH4_ENST00000434759.3_Missense_Mutation_p.P307T|ITIH4_ENST00000406595.1_Missense_Mutation_p.P395T|ITIH4_ENST00000346281.5_Missense_Mutation_p.P395T|ITIH4-AS1_ENST00000478366.1_RNA	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	395	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATGCTCCTGGGGTTAGTCTCC	0.542													18	26					3.51602e-12	3.56078e-12	1	0	T	52858009	G	T	52858009	3	4	328	1	0	0	0	0	1	0	0	0	7959	1232	43	4	1669	4	ITIH4	3	52858009	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	300912	52858009	145164421	545	58759	521	2									
ITIH4	3700	broad.mit.edu	37	chr3	52858010	52858010	+	Silent	SNP	G	G	A																															ttattctggatgctcctgggGttagtctcccctggacccag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:52858010G>A	ENST00000266041.4	-	10	1278	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N	ITIH4_ENST00000485816.1_Silent_p.N394N|ITIH4_ENST00000434759.3_Silent_p.N306N|ITIH4_ENST00000406595.1_Silent_p.N394N|ITIH4_ENST00000346281.5_Silent_p.N394N|ITIH4-AS1_ENST00000478366.1_RNA	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	394	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGCTCCTGGGGTTAGTCTCCC	0.547													18	27					0	0	0	0	A	52858010	G	A	52858010	2	1	328	1	0	0	0	0	0	0	0	1	7959	1252	44	4		4	ITIH4	3	52858010	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	52858010	145164420	546	58760	521	2									
CACNA1D	776	broad.mit.edu	37	chr3	53785837	53785837	+	Missense_Mutation	SNP	C	C	T																															gagatacatccccaaaaaccCctaccagtacaagttctggt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:53785837C>T	ENST00000288139.3	+	29	3756	c.3638C>T	c.(3637-3639)cCc>cTc	p.P1213L	CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1193L|CACNA1D_ENST00000540742.1_Missense_Mutation_p.P100L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1193L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1193					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCCAAAAACCCCTACCAGTAC	0.498													57	112					0	0	0	0	T	53785837	C	T	53785837	3	4	328	1	0	0	0	0	1	0	0	0	2566	623	22	4	3860	4	CACNA1D	3	53785837	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	927827	53785837	144236593	547	58761	522	2									
CACNA1D	776	broad.mit.edu	37	chr3	53785838	53785838	+	Silent	SNP	C	C	T																															agatacatccccaaaaacccCtaccagtacaagttctggta																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:53785838C>T	ENST00000288139.3	+	29	3757	c.3639C>T	c.(3637-3639)ccC>ccT	p.P1213P	CACNA1D_ENST00000350061.5_Silent_p.P1193P|CACNA1D_ENST00000540742.1_Silent_p.P100P|CACNA1D_ENST00000422281.2_Silent_p.P1193P	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1193					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCAAAAACCCCTACCAGTACA	0.498													57	113					0	0	0	0	T	53785838	C	T	53785838	2	4	328	1	0	0	0	0	0	0	0	1	2566	668	24	4		4	CACNA1D	3	53785838	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	53785838	144236592	548	58762	522	2									
CHDH	55349	broad.mit.edu	37	chr3	53857423	53857423	+	Missense_Mutation	SNP	C	C	T																															gtagccggcctgctgcgtggCctccaggaatgcgcagtgca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:53857423C>T	ENST00000315251.5	-	3	1050	c.613G>A	c.(613-615)Gcc>Acc	p.A205T		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	205					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TGCTGCGTGGCCTCCAGGAAT	0.682													6	9					0	0	0	0	T	53857423	C	T	53857423	3	4	328	1	0	0	0	0	1	0	0	0	3362	739	26	4	1199	4	CHDH	3	53857423	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	71585	53857423	144165007	549	58763	523	2									
CHDH	55349	broad.mit.edu	37	chr3	53857424	53857424	+	Silent	SNP	C	C	T																															tagccggcctgctgcgtggcCtccaggaatgcgcagtgcag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:53857424C>T	ENST00000315251.5	-	3	1049	c.612G>A	c.(610-612)gaG>gaA	p.E204E		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	204					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GCTGCGTGGCCTCCAGGAATG	0.682													6	9					0	0	0	0	T	53857424	C	T	53857424	2	4	328	1	0	0	0	0	0	0	0	1	3362	680	24	4		4	CHDH	3	53857424	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	53857424	144165006	550	58764	523	2									
FLNB	2317	broad.mit.edu	37	chr3	58090940	58090940	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggctctgaagtggggtctCtgggtaagtggacacagctg	7	11	16	7	0	2	1	0	1	2	0	3	2	2	2	0	5	1	3	0	5	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:58090940C>T	ENST00000357272.4	+	11	1909	c.1744C>T	c.(1744-1746)Ctg>Ttg	p.L582L	FLNB_ENST00000358537.3_Silent_p.L582L|FLNB_ENST00000348383.5_Silent_p.L582L|FLNB_ENST00000429972.2_Silent_p.L582L|FLNB_ENST00000295956.4_Silent_p.L582L|FLNB_ENST00000419752.2_Silent_p.L413L|FLNB_ENST00000493452.1_Silent_p.L413L|FLNB_ENST00000490882.1_Silent_p.L582L			O75369	FLNB_HUMAN	filamin B, beta	582					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGTGGGGTCTCTGGGTAAGTG	0.587													21	36					0	0	0	0	T	58090940	C	T	58090940	2	4	328	1	0	0	0	0	0	0	0	1	5979	912	32	2		2	FLNB	3	58090940	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4233516	58090940	139931490	551	58765											
CADPS	8618	broad.mit.edu	37	chr3	62467454	62467454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaaaagtaggcatttgtggGatgcctagagggatgttaac	13	10	14	4	0	0	1	0	0	0	1	0	4	0	3	1	3	2	3	1	3	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:62467454G>A	ENST00000383710.4	-	22	3466	c.3117C>T	c.(3115-3117)atC>atT	p.I1039I	CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1039	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCATTTGTGGGATGCCTAGAG	0.418													45	73					0	0	0	0	A	62467454	G	A	62467454	2	1	328	1	0	0	0	0	0	0	0	1	2595	1164	41	2		2	CADPS	3	62467454	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4376514	62467454	135554976	552	58766											
CADPS	8618	broad.mit.edu	37	chr3	62570986	62570986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtttggggctgttcggggtgGgatggagaataacctgtagg	7	11	19	4	1	0	1	0	0	0	1	1	3	0	2	1	7	1	4	1	7	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:62570986G>A	ENST00000383710.4	-	8	1800	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L	CADPS_ENST00000357948.3_Missense_Mutation_p.P484L|CADPS_ENST00000283269.9_Missense_Mutation_p.P484L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	484					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTTCGGGGTGGGATGGAGAAT	0.428													41	80					0	0	0	0	A	62570986	G	A	62570986	3	1	328	1	0	0	0	0	1	0	0	0	2595	1232	43	4	2775	4	CADPS	3	62570986	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	103532	62570986	135451444	553	58767											
ARL6IP5	10550	broad.mit.edu	37	chr3	69151019	69151019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcccttcaacatgatcctggGaggaatcgtggtggtgctgg	7	11	14	9	1	1	1	1	1	0	0	4	3	3	3	2	5	2	1	2	5	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:69151019G>A	ENST00000273258.3	+	2	310	c.206G>A	c.(205-207)gGa>gAa	p.G69E	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation-like factor 6 interacting protein 5	69					L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		ATGATCCTGGGAGGAATCGTG	0.493													14	23					0	0	0	0	A	69151019	G	A	69151019	3	1	328	1	0	0	0	0	1	0	0	0	948	1174	41	2	212	2	ARL6IP5	3	69151019	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6580033	69151019	128871411	554	58768											
MITF	4286	broad.mit.edu	37	chr3	70008443	70008443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagacatgcgctggaacaagGgaaccatcttaaaagcatcc	15	6	10	10	1	1	1	0	0	1	1	2	4	2	3	2	2	4	2	2	2	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:70008443G>A	ENST00000352241.4	+	9	1196	c.1033G>A	c.(1033-1035)Gga>Aga	p.G345R	MITF_ENST00000394351.3_Missense_Mutation_p.G244R|MITF_ENST00000531774.1_Missense_Mutation_p.G182R|MITF_ENST00000472437.1_Missense_Mutation_p.G293R|MITF_ENST00000394355.2_Missense_Mutation_p.G320R|MITF_ENST00000448226.2_Missense_Mutation_p.G351R|MITF_ENST00000314589.5_Missense_Mutation_p.G329R|MITF_ENST00000314557.6_Missense_Mutation_p.G238R|MITF_ENST00000328528.6_Missense_Mutation_p.G344R	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	351	Helix-loop-helix motif.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.G244R(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTGGAACAAGGGAACCATCTT	0.418			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						13	36					0	0	0	0	A	70008443	G	A	70008443	3	1	328	1	0	0	0	0	1	0	0	0	9665	1233	43	4	1306	4	MITF	3	70008443	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	857424	70008443	128013987	555	58769											
PDZRN3	23024	broad.mit.edu	37	chr3	73433280	73433280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgcccacttcgggatcttCcgtgatggagagcagattct	7	11	13	10	2	2	3	0	1	2	2	4	5	3	4	2	3	2	1	2	3	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:73433280C>T	ENST00000263666.4	-	10	2551	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	PDZRN3_ENST00000462146.2_Missense_Mutation_p.E470K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E530K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E470K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E535K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	813							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCGGGATCTTCCGTGATGGAG	0.652													21	56					0	0	0	0	T	73433280	C	T	73433280	3	4	328	1	0	0	0	0	1	0	0	0	11780	864	30	2	767	2	PDZRN3	3	73433280	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3424837	73433280	124589150	556	58770											
CNTN3	5067	broad.mit.edu	37	chr3	74315789	74315789	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acgttattttgactgctagtCctatagaaaacctaaaatgc	14	13	6	8	1	0	2	0	1	0	1	1	2	1	2	2	0	3	2	2	0	8	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:74315789C>T	ENST00000263665.6	-	21	2856	c.2829G>A	c.(2827-2829)agG>agA	p.R943R	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	943	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GACTGCTAGTCCTATAGAAAA	0.323													25	45					0	0	0	0	T	74315789	C	T	74315789	2	4	328	1	0	0	0	0	0	0	0	1	3672	854	30	2		2	CNTN3	3	74315789	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	882509	74315789	123706641	557	58771											
ROBO1	6091	broad.mit.edu	37	chr3	78701047	78701047	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgagcgaggctgacttGgtcctcaggtgacacagggt	7	9	15	10	1	1	3	1	3	0	0	2	4	2	3	1	4	2	2	1	4	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:78701047G>A	ENST00000436010.2	-	17	3527	c.2530C>T	c.(2530-2532)Caa>Taa	p.Q844*	ROBO1_ENST00000495273.1_Nonsense_Mutation_p.Q847*|ROBO1_ENST00000464233.1_Nonsense_Mutation_p.Q883*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.Q847*			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	883	Fibronectin type-III 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGGCTGACTTGGTCCTCAGGT	0.488													55	74					0	0	0	0	A	78701047	G	A	78701047	4	1	328	1	0	0	0	0	0	1	0	0	13598	1357	47	4	2360	4	ROBO1	3	78701047	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4385258	78701047	119321383	558	58772											
CADM2	253559	broad.mit.edu	37	chr3	85961560	85961560	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaggatgcaaatcgcaaGacattcactgtcagcagcac	15	6	10	10	1	2	2	2	0	0	2	3	4	2	3	0	1	3	4	0	1	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:85961560G>C	ENST00000383699.3	+	6	1194	c.567G>C	c.(565-567)aaG>aaC	p.K189N	CADM2_ENST00000407528.2_Missense_Mutation_p.K180N|CADM2_ENST00000405615.2_Missense_Mutation_p.K182N	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	180	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CAAATCGCAAGACATTCACTG	0.398													18	34					0	0	0	0	C	85961560	G	C	85961560	3	2	328	1	0	0	0	0	1	0	0	0	2592	933	33	2	629	2	CADM2	3	85961560	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7260513	85961560	112060870	559	58773											
EPHA3	2042	broad.mit.edu	37	chr3	89390208	89390208	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacaaagaccctccatcCatggcttgtacccgtgagta	11	8	9	13	1	0	3	0	1	0	2	2	3	2	3	4	1	1	4	4	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:89390208C>A	ENST00000336596.2	+	4	1182	c.957C>A	c.(955-957)tcC>tcA	p.S319S	EPHA3_ENST00000494014.1_Silent_p.S319S|EPHA3_ENST00000452448.2_Silent_p.S319S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	319	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACCCTCCATCCATGGCTTGTA	0.438										TSP Lung(6;0.00050)			36	69					2.51541e-25	2.57239e-25	1	0	A	89390208	C	A	89390208	2	1	328	1	0	0	0	0	0	0	0	1	5206	581	21	4		4	EPHA3	3	89390208	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3428648	89390208	108632222	560	58774											
PROS1	5627	broad.mit.edu	37	chr3	93615439	93615439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgctgatttctggcaaacGaaattttaaatataaaacaa	17	12	5	7	1	1	1	0	1	1	0	1	2	1	1	1	1	3	2	1	1	8	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:93615439G>A	ENST00000394236.3	-	9	1262	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	PROS1_ENST00000407433.1_Missense_Mutation_p.R185C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	316	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.R316C(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TCTGGCAAACGAAATTTTAAA	0.408													32	57					0	0	0	0	A	93615439	G	A	93615439	3	1	328	1	0	0	0	0	1	0	0	0	12638	1058	37	1	1112	1	PROS1	3	93615439	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4225231	93615439	104406991	561	58775											
DHFRL1	200895	broad.mit.edu	37	chr3	93780144	93780144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagaactaaattaattCtatcctttaaaggtcgattc	13	15	6	7	1	1	1	0	1	1	1	4	3	2	1	1	1	2	1	1	1	7	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:93780144C>A	ENST00000394221.2	-	2	661	c.212G>T	c.(211-213)aGa>aTa	p.R71I	DHFRL1_ENST00000314636.2_Missense_Mutation_p.R71I|DHFRL1_ENST00000481631.1_Intron	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	71	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						TAAATTAATTCTATCCTTTAA	0.413													61	90					9.77497e-20	9.97196e-20	1	0	A	93780144	C	A	93780144	3	1	328	1	0	0	0	0	1	0	0	0	4519	913	32	2	355	2	DHFRL1	3	93780144	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	164705	93780144	104242286	562	58776											
NIT2	56954	broad.mit.edu	37	chr3	100058674	100058674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctaggaatgctttaattctCcatatggagcgaaatatttt	12	16	7	6	1	2	0	0	0	2	0	3	3	2	2	1	2	2	1	1	2	6	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:100058674C>T	ENST00000394140.3	+	3	233	c.142C>T	c.(142-144)Cca>Tca	p.P48S		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	48	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTTTAATTCTCCATATGGAGC	0.373													7	26					0	0	0	0	T	100058674	C	T	100058674	3	4	328	1	0	0	0	0	1	0	0	0	10504	855	30	2	152	2	NIT2	3	100058674	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6278530	100058674	97963756	563	58777											
NIT2	56954	broad.mit.edu	37	chr3	100074063	100074063	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgccagcaaatccccgtttTtagacagaagcgatcagacc	13	7	8	13	3	1	3	1	0	0	3	2	4	2	3	4	0	2	2	4	0	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:100074063T>A	ENST00000394140.3	+	10	873	c.782T>A	c.(781-783)tTt>tAt	p.F261Y		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	261	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						ATCCCCGTTTTTAGACAGAAG	0.408													22	28					0	0	0	0	A	100074063	T	A	100074063	3	1	328	1	0	0	0	0	1	0	0	0	10504	1841	64	5	820	5	NIT2	3	100074063	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	15389	100074063	97948367	564	58778											
NFKBIZ	64332	broad.mit.edu	37	chr3	101571959	101571959	+	Missense_Mutation	SNP	G	G	A																															cacctcaaacaccaacgcccGgggagagcatggaagatgtt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:101571959G>A	ENST00000326172.5	+	5	704	c.589G>A	c.(589-591)Ggg>Agg	p.G197R	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G97R|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G197R	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ACCAACGCCCGGGGAGAGCAT	0.438													30	49					0	0	0	0	A	101571959	G	A	101571959	3	1	328	1	0	0	0	0	1	0	0	0	10453	1116	39	1	607	1	NFKBIZ	3	101571959	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1497896	101571959	96450471	565	58779	524	2									
NFKBIZ	64332	broad.mit.edu	37	chr3	101571960	101571960	+	Missense_Mutation	SNP	G	G	A																															acctcaaacaccaacgcccgGggagagcatggaagatgttc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:101571960G>A	ENST00000326172.5	+	5	705	c.590G>A	c.(589-591)gGg>gAg	p.G197E	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G97E|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G197E	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CCAACGCCCGGGGAGAGCATG	0.438													31	50					0	0	0	0	A	101571960	G	A	101571960	3	1	328	1	0	0	0	0	1	0	0	0	10453	1232	43	4	608	4	NFKBIZ	3	101571960	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	101571960	96450470	566	58780	524	2									
CBLB	868	broad.mit.edu	37	chr3	105586348	105586348	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcctgaatagcatcaataAtacccaaaattcgacctttt	15	12	3	11	1	1	1	1	1	0	0	3	2	2	1	3	0	2	1	3	0	7	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:105586348A>T	ENST00000264122.4	-	2	395	c.74T>A	c.(73-75)aTt>aAt	p.I25N	CBLB_ENST00000403724.1_Missense_Mutation_p.I25N|CBLB_ENST00000545639.1_Missense_Mutation_p.I47N|CBLB_ENST00000394027.3_Missense_Mutation_p.I47N|CBLB_ENST00000405772.1_Missense_Mutation_p.I25N	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	25					cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AGCATCAATAATACCCAAAAT	0.473			Mis S		AML								67	73					0	0	0	0	T	105586348	A	T	105586348	3	4	328	1	0	0	0	0	1	0	0	0	2726	101	4	5	2946	5	CBLB	3	105586348	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	4014388	105586348	92436082	567	58781											
MYH15	22989	broad.mit.edu	37	chr3	108195336	108195336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caactcagaggagttaatgcCcatgaggaaagcagctttgt	13	9	11	8	0	1	2	1	1	0	1	1	4	1	4	1	2	4	3	1	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:108195336C>T	ENST00000273353.3	-	13	1257	c.1201G>A	c.(1201-1203)Ggc>Agc	p.G401S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	401	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GAGTTAATGCCCATGAGGAAA	0.398													15	20					0	0	0	0	T	108195336	C	T	108195336	3	4	328	1	0	0	0	0	1	0	0	0	10104	623	22	4	4759	4	MYH15	3	108195336	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2608988	108195336	89827094	568	58782											
PHLDB2	90102	broad.mit.edu	37	chr3	111564747	111564747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggataccaagagagaggtgcCcaaggaagatggagttggtg	13	6	17	5	0	0	3	0	0	0	3	0	7	0	6	2	5	2	1	2	5	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:111564747C>T	ENST00000393923.3	+	2	287	c.32C>T	c.(31-33)cCc>cTc	p.P11L	PLCXD2_ENST00000393934.3_3'UTR|PLCXD2_ENST00000477665.1_3'UTR	NM_001134437.1	NP_001127909.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	0						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGAGAGGTGCCCAAGGAAGAT	0.433													33	52					0	0	0	0	T	111564747	C	T	111564747	3	4	328	1	0	0	0	0	1	0	0	0	11924	623	22	4	34	4	PHLDB2	3	111564747	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3369411	111564747	86457683	569	58783											
PHLDB2	90102	broad.mit.edu	37	chr3	111603463	111603463	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctcgctcctggccatgtGgaatggaagttccctgagtg	6	11	14	10	1	0	1	0	1	0	0	3	3	2	3	3	4	0	3	3	4	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:111603463G>A	ENST00000431670.2	+	2	950	c.539G>A	c.(538-540)tGg>tAg	p.W180*	PHLDB2_ENST00000412622.1_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000481953.1_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000393923.3_Nonsense_Mutation_p.W207*|PHLDB2_ENST00000393925.3_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000477695.1_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000478922.1_Nonsense_Mutation_p.W180*	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	180						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTGGCCATGTGGAATGGAAGT	0.532													29	42					0	0	0	0	A	111603463	G	A	111603463	4	1	328	1	0	0	0	0	0	1	0	0	11924	1357	47	4	626	4	PHLDB2	3	111603463	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	38716	111603463	86418967	570	58784											
CCDC80	151887	broad.mit.edu	37	chr3	112357969	112357969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctacggatggggccttggtCgatgacctcgtacatggctt	6	11	13	11	3	0	1	0	1	0	0	2	3	0	2	3	5	2	2	3	5	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:112357969C>T	ENST00000206423.3	-	2	1737	c.784G>A	c.(784-786)Gac>Aac	p.D262N	CCDC80_ENST00000439685.2_Missense_Mutation_p.D262N	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	262								p.D262N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGGCCTTGGTCGATGACCTCG	0.572													45	71					0	0	0	0	T	112357969	C	T	112357969	3	4	328	1	0	0	0	0	1	0	0	0	2881	884	31	1	2096	1	CCDC80	3	112357969	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	754506	112357969	85664461	571	58785											
CD200R1L	344807	broad.mit.edu	37	chr3	112564562	112564562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatggaaatcagtaatcttgGagctgacatcttccctaaag	13	11	9	8	0	3	1	1	1	2	0	4	4	4	3	1	2	1	2	1	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:112564562G>A	ENST00000398214.1	-	1	235	c.10C>T	c.(10-12)Cca>Tca	p.P4S	CD200R1L_ENST00000488794.1_5'UTR|CD200R1L_ENST00000448932.1_5'UTR	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	4						integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AGTAATCTTGGAGCTGACATC	0.343													28	64					0	0	0	0	A	112564562	G	A	112564562	3	1	328	1	0	0	0	0	1	0	0	0	3011	1174	41	2	829	2	CD200R1L	3	112564562	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	206593	112564562	85457868	572	58786											
KIAA2018	205717	broad.mit.edu	37	chr3	113377932	113377932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagcttagaacacccaaaGaatgtgaagcagaaacactc	18	5	8	10	0	0	5	0	1	0	4	1	5	0	5	1	0	4	2	1	0	6	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:113377932G>A	ENST00000316407.4	-	7	3007	c.2597C>T	c.(2596-2598)tCt>tTt	p.S866F	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.S866F	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	866	Ser-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AACACCCAAAGAATGTGAAGC	0.448													25	40					0	0	0	0	A	113377932	G	A	113377932	3	1	328	1	0	0	0	0	1	0	0	0	8319	942	33	2	4144	2	KIAA2018	3	113377932	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	813370	113377932	84644498	573	58787											
KIAA1407	57577	broad.mit.edu	37	chr3	113723455	113723455	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggagagaagataacaacCaccaaggccaccaccgagac	17	2	9	13	1	0	3	0	0	0	3	0	6	0	4	5	2	2	0	5	2	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:113723455C>T	ENST00000545063.1	-	11	2154	c.1500G>A	c.(1498-1500)gtG>gtA	p.V500V	KIAA1407_ENST00000295878.3_Intron			Q8NCU4	K1407_HUMAN	KIAA1407	0										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGATAACAACCACCAAGGCCA	0.463													36	62					0	0	0	0	T	113723455	C	T	113723455	2	4	328	1	0	0	0	0	0	0	0	1	8280	609	21	4		4	KIAA1407	3	113723455	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	345523	113723455	84298975	574	58788											
ZNF80	7634	broad.mit.edu	37	chr3	113955834	113955834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctgggagtcacattcatGgagattgtctcctgtggaga	8	12	12	9	0	3	2	2	0	1	2	5	5	4	3	2	3	0	0	2	3	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:113955834G>A	ENST00000482457.2	-	1	591	c.88C>T	c.(88-90)Cat>Tat	p.H30Y		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	30						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TCACATTCATGGAGATTGTCT	0.502													29	52					0	0	0	0	A	113955834	G	A	113955834	3	1	328	1	0	0	0	0	1	0	0	0	18261	1348	47	4	737	4	ZNF80	3	113955834	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	232379	113955834	84066596	575	58789											
IGSF11	152404	broad.mit.edu	37	chr3	118621622	118621622	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgttggcattgcctgagtgGaaagagaaagattggcccaa	13	9	13	6	0	0	3	0	1	0	2	0	5	0	4	2	3	1	2	2	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:118621622G>A	ENST00000354673.2	-	9	1418	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	IGSF11_ENST00000441144.2_Silent_p.F322F|IGSF11_ENST00000393775.2_Silent_p.F347F|IGSF11_ENST00000491903.1_Silent_p.F319F|IGSF11_ENST00000489689.1_Silent_p.F323F|IGSF11_ENST00000425327.2_Silent_p.F346F	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	347					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCTGAGTGGAAAGAGAAAG	0.473													52	81					0	0	0	0	A	118621622	G	A	118621622	2	1	328	1	0	0	0	0	0	0	0	1	7651	1165	41	2		2	IGSF11	3	118621622	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4665788	118621622	79400808	576	58790											
CASR	846	broad.mit.edu	37	chr3	121981200	121981200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatatatacctgcttacctGggagagggctcttcaccaat	11	12	8	10	0	2	1	1	0	1	1	2	2	2	1	3	2	3	2	3	2	6	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:121981200G>A	ENST00000498619.1	+	4	1756	c.1318G>A	c.(1318-1320)Ggg>Agg	p.G440R	CASR_ENST00000490131.1_Missense_Mutation_p.G440R|CASR_ENST00000296154.5_Missense_Mutation_p.G440R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	440					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGCTTACCTGGGAGAGGGCT	0.448													37	56					0	0	0	0	A	121981200	G	A	121981200	3	1	328	1	0	0	0	0	1	0	0	0	2707	1348	47	4	1328	4	CASR	3	121981200	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3359578	121981200	76041230	577	58791											
SEMA5B	54437	broad.mit.edu	37	chr3	122634365	122634365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgaggggaatcacaggatCgagctcgacacaggcaagag	13	4	15	9	3	1	1	1	0	0	1	4	6	1	3	0	4	1	2	0	4	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:122634365C>A	ENST00000195173.4	-	14	2213	c.1910G>T	c.(1909-1911)cGa>cTa	p.R637L	SEMA5B_ENST00000357599.3_Missense_Mutation_p.R637L|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R691L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	637					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		ATCACAGGATCGAGCTCGACA	0.607													30	35					3.73148e-12	3.77784e-12	1	0	A	122634365	C	A	122634365	3	1	328	1	0	0	0	0	1	0	0	0	14125	884	31	3	1585	3	SEMA5B	3	122634365	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	653165	122634365	75388065	578	58792											
PDIA5	10954	broad.mit.edu	37	chr3	122808107	122808107	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaaaaaactgctcagaacCcggaataatgtactggtgct	14	10	9	8	1	1	2	1	1	0	1	1	3	1	3	1	2	5	3	1	2	7	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:122808107C>T	ENST00000316218.7	+	2	230	c.135C>T	c.(133-135)acC>acT	p.T45T		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	45					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGCTCAGAACCCGGAATAATG	0.527													40	74					0	0	0	0	T	122808107	C	T	122808107	2	4	328	1	0	0	0	0	0	0	0	1	11742	610	22	4		4	PDIA5	3	122808107	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	173742	122808107	75214323	579	58793											
KALRN	8997	broad.mit.edu	37	chr3	123946878	123946878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgaaagcttctgatgtccttCctatcctaaaggaaaaggtg	12	12	9	8	0	1	2	0	2	1	0	4	3	4	3	3	2	1	1	3	2	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:123946878C>T	ENST00000360013.3	+	2	236	c.109C>T	c.(109-111)Cct>Tct	p.P37S	KALRN_ENST00000240874.3_Missense_Mutation_p.P37S|KALRN_ENST00000460856.1_Missense_Mutation_p.P37S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	37	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGATGTCCTTCCTATCCTAAA	0.468													65	101					0	0	0	0	T	123946878	C	T	123946878	3	4	328	1	0	0	0	0	1	0	0	0	8028	855	30	2	115	2	KALRN	3	123946878	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1138771	123946878	74075552	580	58794											
C3orf22	152065	broad.mit.edu	37	chr3	126268910	126268910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacggtgatgtaaaatctGgagccccgagcctagagaag	13	6	13	9	2	1	3	0	1	1	2	1	6	1	4	3	2	2	1	3	2	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:126268910G>A	ENST00000318225.2	-	4	605	c.227C>T	c.(226-228)cCa>cTa	p.P76L		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	76										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		TGTAAAATCTGGAGCCCCGAG	0.612													14	22					0	0	0	0	A	126268910	G	A	126268910	3	1	328	1	0	0	0	0	1	0	0	0	2235	1348	47	4	202	4	C3orf22	3	126268910	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2322032	126268910	71753520	581	58795											
RPN1	6184	broad.mit.edu	37	chr3	128348886	128348886	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggaagcgaggccggattTccatctctacagagtcatcc	10	8	12	11	2	2	1	1	0	1	1	5	5	4	3	3	3	2	0	3	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:128348886T>A	ENST00000296255.3	-	5	992	c.944A>T	c.(943-945)gAa>gTa	p.E315V	RPN1_ENST00000497289.1_Missense_Mutation_p.E143V	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	315					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		AGGCCGGATTTCCATCTCTAC	0.493			T	EVI1	AML								16	38					0	0	0	0	A	128348886	T	A	128348886	3	1	328	1	0	0	0	0	1	0	0	0	13692	1783	62	5	903	5	RPN1	3	128348886	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	2079976	128348886	69673544	582	58796											
PLXND1	23129	broad.mit.edu	37	chr3	129292537	129292537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccggcccaggttccttcCtcggatggtcagcagggtcc	4	8	13	16	3	1	0	1	0	0	0	5	1	4	1	6	5	1	2	6	5	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:129292537C>T	ENST00000393239.1	-	13	2915	c.2737G>A	c.(2737-2739)Gga>Aga	p.G913R	PLXND1_ENST00000324093.4_Missense_Mutation_p.G913R			Q9Y4D7	PLXD1_HUMAN	plexin D1	913	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGGTTCCTTCCTCGGATGGTC	0.657													15	22					0	0	0	0	T	129292537	C	T	129292537	3	4	328	1	0	0	0	0	1	0	0	0	12199	690	24	4	3136	4	PLXND1	3	129292537	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	943651	129292537	68729893	583	58797											
COL6A6	131873	broad.mit.edu	37	chr3	130368167	130368167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagagaaattgaaactattCcttatgagagatcctctgcc	13	12	7	9	0	2	4	1	2	1	2	4	6	4	4	3	0	2	0	3	0	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:130368167C>T	ENST00000358511.6	+	32	5525	c.5494C>T	c.(5494-5496)Cct>Tct	p.P1832S	COL6A6_ENST00000453409.2_Missense_Mutation_p.P1832S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1832	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAAACTATTCCTTATGAGAG	0.512													6	14					0	0	0	0	T	130368167	C	T	130368167	3	4	328	1	0	0	0	0	1	0	0	0	3733	855	30	2	5620	2	COL6A6	3	130368167	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1075630	130368167	67654263	584	58798											
ASTE1	28990	broad.mit.edu	37	chr3	130733106	130733106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagcgggggcatatgacCttgtggcattgaatagatat	10	13	12	6	1	1	3	1	2	0	1	1	3	1	3	1	3	1	2	1	3	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:130733106C>T	ENST00000264992.3	-	6	2276	c.1835G>A	c.(1834-1836)aGg>aAg	p.R612K	ASTE1_ENST00000514044.1_Missense_Mutation_p.R637K|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000422190.2_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	612					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GGCATATGACCTTGTGGCATT	0.418													22	34					0	0	0	0	T	130733106	C	T	130733106	3	4	328	1	0	0	0	0	1	0	0	0	1066	681	24	4	208	4	ASTE1	3	130733106	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	364939	130733106	67289324	585	58799											
DNAJC13	23317	broad.mit.edu	37	chr3	132207165	132207165	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgctgacctttgaccctatCcttgttgagaaggttgctat	7	15	9	10	0	0	3	0	3	0	1	1	4	1	3	3	1	2	4	3	1	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:132207165C>T	ENST00000260818.6	+	30	3539	c.3291C>T	c.(3289-3291)atC>atT	p.I1097I		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1097				I -> T (in Ref. 6; BAC86133).			heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTGACCCTATCCTTGTTGAGA	0.338													20	36					0	0	0	0	T	132207165	C	T	132207165	2	4	328	1	0	0	0	0	0	0	0	1	4668	845	30	2		2	DNAJC13	3	132207165	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1474059	132207165	65815265	586	58800											
TOPBP1	11073	broad.mit.edu	37	chr3	133347419	133347419	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccttctctgactgggcCtctttcagttgagggctggc	4	13	11	13	0	3	2	1	2	2	0	4	2	3	2	3	3	1	2	3	3	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:133347419C>T	ENST00000260810.5	-	15	2810	c.2679G>A	c.(2677-2679)gaG>gaA	p.E893E		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	893					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTGACTGGGCCTCTTTCAGTT	0.388								Other conserved DNA damage response genes					5	8					0	0	0	0	T	133347419	C	T	133347419	2	4	328	1	0	0	0	0	0	0	0	1	16464	680	24	4		4	TOPBP1	3	133347419	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1140254	133347419	64675011	587	58801											
SRPRB	58477	broad.mit.edu	37	chr3	133538558	133538558	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggtggaagaggggacgTgggctctgctgacatccagg	9	6	18	8	1	1	2	0	1	1	1	2	4	2	4	1	6	1	2	1	6	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:133538558T>C	ENST00000466490.2	+	8	1049	c.764T>C	c.(763-765)gTg>gCg	p.V255A		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	255						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AGAGGGGACGTGGGCTCTGCT	0.527													16	25					0	0	0	0	C	133538558	T	C	133538558	3	2	328	1	0	0	0	0	1	0	0	0	15253	1696	59	5	790	5	SRPRB	3	133538558	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	191139	133538558	64483872	588	58802											
KY	339855	broad.mit.edu	37	chr3	134322702	134322702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagttgccaaagctctcagGgaacatgggccagttcacct	10	8	10	13	0	2	0	2	0	1	0	3	1	2	1	4	2	3	3	4	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:134322702G>A	ENST00000508956.1	-	10	1699	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S	KY_ENST00000423778.2_Missense_Mutation_p.P569S|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	0						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AAGCTCTCAGGGAACATGGGC	0.493													11	36					0	0	0	0	A	134322702	G	A	134322702	3	1	328	1	0	0	0	0	1	0	0	0	8639	1232	43	4	284	4	KY	3	134322702	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	784144	134322702	63699728	589	58803											
EPHB1	2047	broad.mit.edu	37	chr3	134670708	134670708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcaaaattttgcagtgtttCcagagactatgacaggggca	12	11	11	7	0	0	2	0	1	0	1	1	3	1	2	1	2	2	4	1	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:134670708C>T	ENST00000398015.3	+	3	989	c.619C>T	c.(619-621)Cca>Tca	p.P207S	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	207	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGCAGTGTTTCCAGAGACTAT	0.488													71	125					0	0	0	0	T	134670708	C	T	134670708	3	4	328	1	0	0	0	0	1	0	0	0	5212	855	30	2	629	2	EPHB1	3	134670708	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	348006	134670708	63351722	590	58804											
PPP2R3A	5523	broad.mit.edu	37	chr3	135720858	135720858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacgatgggaacgccccatCctttggtttactgcggagtt	8	11	11	11	3	0	0	0	0	0	0	1	3	1	2	3	3	4	2	3	3	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:135720858C>A	ENST00000264977.3	+	2	1135	c.518C>A	c.(517-519)tCc>tAc	p.S173Y	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	173					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AACGCCCCATCCTTTGGTTTA	0.413													26	41					6.32553e-13	6.41384e-13	1	0	A	135720858	C	A	135720858	3	1	328	1	0	0	0	0	1	0	0	0	12464	855	30	2	520	2	PPP2R3A	3	135720858	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1050150	135720858	62301572	591	58805											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721087	135721087	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaaaaaatgcacagacatCataaaacaatgcataaagaa	24	7	4	6	0	1	2	1	0	0	2	1	2	1	2	0	0	3	2	0	0	10	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:135721087C>T	ENST00000264977.3	+	2	1364	c.747C>T	c.(745-747)atC>atT	p.I249I	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	249					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCACAGACATCATAAAACAAT	0.318													18	25					0	0	0	0	T	135721087	C	T	135721087	2	4	328	1	0	0	0	0	0	0	0	1	12464	816	29	2		2	PPP2R3A	3	135721087	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	229	135721087	62301343	592	58806											
STAG1	10274	broad.mit.edu	37	chr3	136141885	136141885	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttctttggcagttagcAcctagaaacaaaatcggaaa	14	11	7	9	1	1	1	0	0	1	1	3	2	2	2	2	2	2	3	2	2	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:136141885A>C	ENST00000383202.2	-	17	1908	c.1650_splice	c.e17-1	p.V551_splice	STAG1_ENST00000236698.5_Splice_Site_p.V551_splice|STAG1_ENST00000434713.2_Splice_Site_p.V325_splice|STAG1_ENST00000536929.1_Splice_Site_p.V135_splice	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	551					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGCAGTTAGCACCTAGAAACA	0.299													8	10					0	0	0	0	C	136141885	A	C	136141885	5	2	328	1	0	0	0	0	0	0	1	0	15332	173	6	5	2196	5	STAG1	3	136141885	Splice_Site	SNP	A	TCGA-CV-7568-01A-11D-2229-08	420798	136141885	61880545	593	58807											
ESYT3	83850	broad.mit.edu	37	chr3	138178864	138178864	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagccgtgactgtgttcttCcttcagaagccggtgagtcc	6	11	13	11	2	2	3	1	2	1	1	4	4	4	4	4	2	2	1	4	2	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:138178864C>T	ENST00000389567.4	+	6	912	c.726C>T	c.(724-726)ttC>ttT	p.F242F	ESYT3_ENST00000289135.4_Silent_p.F242F	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	242						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTGTGTTCTTCCTTCAGAAGC	0.607													15	29					0	0	0	0	T	138178864	C	T	138178864	2	4	328	1	0	0	0	0	0	0	0	1	5304	854	30	2		2	ESYT3	3	138178864	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2036979	138178864	59843566	594	58808											
ESYT3	83850	broad.mit.edu	37	chr3	138195306	138195306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactgattgacttatcaaaaGaagatctgattaagggcttt	14	14	8	5	0	2	5	1	3	1	2	2	5	2	5	0	1	1	1	0	1	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:138195306G>A	ENST00000389567.4	+	22	2782	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	866						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTTATCAAAAGAAGATCTGAT	0.348													19	41					0	0	0	0	A	138195306	G	A	138195306	3	1	328	1	0	0	0	0	1	0	0	0	5304	943	33	2	2682	2	ESYT3	3	138195306	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	16442	138195306	59827124	595	58809											
TRPC1	7220	broad.mit.edu	37	chr3	142525009	142525009	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagatctgtcaaaattcCgaaatgaaataagggattta	17	10	8	6	1	2	2	1	1	1	1	3	4	3	3	2	1	0	0	2	1	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:142525009C>T	ENST00000273482.6	+	12	2603	c.2212C>T	c.(2212-2214)Cga>Tga	p.R738*	TRPC1_ENST00000476941.1_Nonsense_Mutation_p.R772*	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	772					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GTCAAAATTCCGAAATGAAAT	0.363													20	35					0	0	0	0	T	142525009	C	T	142525009	4	4	328	1	0	0	0	0	0	1	0	0	16673	644	23	1	2258	1	TRPC1	3	142525009	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4329703	142525009	55497421	596	58810											
CPB1	1360	broad.mit.edu	37	chr3	148563319	148563319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catccgcaacaaactctcttCcatcaaggcatatctgacaa	14	9	4	14	1	3	1	1	1	2	0	6	1	5	1	2	1	2	2	2	1	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:148563319C>T	ENST00000491148.1	+	10	1221	c.887C>T	c.(886-888)tCc>tTc	p.S296F	CPB1_ENST00000282957.4_Missense_Mutation_p.S296F			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	296					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAACTCTCTTCCATCAAGGCA	0.473													31	67					0	0	0	0	T	148563319	C	T	148563319	3	4	328	1	0	0	0	0	1	0	0	0	3826	855	30	2	921	2	CPB1	3	148563319	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6038310	148563319	49459111	597	58811											
CPA3	1359	broad.mit.edu	37	chr3	148599358	148599358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgaccaaactcttggaccGaatgaatttttacattcttc	12	15	5	9	1	2	2	0	2	2	0	3	4	2	3	2	1	2	0	2	1	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:148599358G>A	ENST00000296046.3	+	7	678	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	209					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTCTTGGACCGAATGAATTTT	0.338													14	35					0	0	0	0	A	148599358	G	A	148599358	3	1	328	1	0	0	0	0	1	0	0	0	3821	1058	37	1	652	1	CPA3	3	148599358	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	36039	148599358	49423072	598	58812											
HLTF	6596	broad.mit.edu	37	chr3	148786056	148786056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagattctttttaactctttCaataggaagaggtctgccat	11	16	7	7	0	4	2	1	0	3	2	4	3	4	3	1	2	2	0	1	2	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:148786056C>T	ENST00000310053.5	-	8	1154	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	HLTF_ENST00000494055.1_Missense_Mutation_p.E321K|HLTF_ENST00000465259.1_Missense_Mutation_p.E321K|HLTF_ENST00000392912.2_Missense_Mutation_p.E321K	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	321					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTAACTCTTTCAATAGGAAGA	0.328													52	101					0	0	0	0	T	148786056	C	T	148786056	3	4	328	1	0	0	0	0	1	0	0	0	7265	835	29	2	2140	2	HLTF	3	148786056	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	186698	148786056	49236374	599	58813											
PLCH1	23007	broad.mit.edu	37	chr3	155199305	155199305	+	Nonsense_Mutation	SNP	G	G	A																															aaaactcttactaatacactGgtacttgctctcaaaattgc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:155199305G>A	ENST00000460012.1	-	23	4777	c.4420C>T	c.(4420-4422)Cag>Tag	p.Q1474*	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.Q1474*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.Q1474*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.Q1512*			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1512					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTAATACACTGGTACTTGCTC	0.453													25	40					0	0	0	0	A	155199305	G	A	155199305	4	1	328	1	0	0	0	0	0	1	0	0	12109	1357	47	4	551	4	PLCH1	3	155199305	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6413249	155199305	42823125	600	58814	525	2									
PLCH1	23007	broad.mit.edu	37	chr3	155199306	155199306	+	Silent	SNP	G	G	A																															aaactcttactaatacactgGtacttgctctcaaaattgca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:155199306G>A	ENST00000460012.1	-	23	4776	c.4419C>T	c.(4417-4419)taC>taT	p.Y1473Y	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Silent_p.Y1473Y|PLCH1_ENST00000414191.1_Silent_p.Y1473Y|PLCH1_ENST00000340059.7_Silent_p.Y1511Y			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1511					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TAATACACTGGTACTTGCTCT	0.453													25	38					0	0	0	0	A	155199306	G	A	155199306	2	1	328	1	0	0	0	0	0	0	0	1	12109	1256	44	4		4	PLCH1	3	155199306	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	155199306	42823124	601	58815	525	2									
PLCH1	23007	broad.mit.edu	37	chr3	155200384	155200384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatggagacgtctgacaaaGaaaaggatgttgcagctcgg	13	7	14	7	2	1	3	0	1	1	2	2	5	1	4	0	3	2	4	0	3	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:155200384G>A	ENST00000460012.1	-	23	3698	c.3341C>T	c.(3340-3342)tCt>tTt	p.S1114F	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1114F|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1114F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1152F			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1152					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCTGACAAAGAAAAGGATGT	0.443													24	40					0	0	0	0	A	155200384	G	A	155200384	3	1	328	1	0	0	0	0	1	0	0	0	12109	942	33	2	1630	2	PLCH1	3	155200384	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1078	155200384	42822046	602	58816											
IFT80	57560	broad.mit.edu	37	chr3	159995110	159995110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacctttcccagttgtagaGattaatattgatctggattg	10	17	8	6	0	1	2	0	1	1	1	2	4	2	3	2	1	1	2	2	1	4	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:159995110G>A	ENST00000326448.7	-	18	2515	c.2083C>T	c.(2083-2085)Ctc>Ttc	p.L695F	IFT80_ENST00000496589.1_Missense_Mutation_p.L558F|IFT80_ENST00000483465.1_Missense_Mutation_p.L558F|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L866F	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	695						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGTTGTAGAGATTAATATTG	0.363													39	55					0	0	0	0	A	159995110	G	A	159995110	3	1	328	1	0	0	0	0	1	0	0	0	7617	942	33	2	262	2	IFT80	3	159995110	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4794726	159995110	38027320	603	58817											
ARL14	80117	broad.mit.edu	37	chr3	160395579	160395579	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaagctttgcagtgacCggaactggtatgtgcaaccc	11	9	12	9	1	0	3	0	2	0	1	0	4	0	4	2	2	5	4	2	2	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:160395579C>A	ENST00000320767.2	+	1	632	c.445C>A	c.(445-447)Cgg>Agg	p.R149R		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	149					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			TTGCAGTGACCGGAACTGGTA	0.502													27	31					7.92952e-12	8.02318e-12	1	0	A	160395579	C	A	160395579	2	1	328	1	0	0	0	0	0	0	0	1	932	643	23	3		3	ARL14	3	160395579	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	400469	160395579	37626851	604	58818											
SI	6476	broad.mit.edu	37	chr3	164735571	164735571	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggtattgctttgttgcaActtctggagttgggcccaaa	8	14	11	8	0	1	0	0	0	1	0	1	1	1	1	1	3	3	5	1	3	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:164735571A>G	ENST00000264382.3	-	30	3673	c.3611T>C	c.(3610-3612)gTt>gCt	p.V1204A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1204	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTTTGTTGCAACTTCTGGAGT	0.333										HNSCC(35;0.089)			13	24					0	0	0	0	G	164735571	A	G	164735571	3	3	328	1	0	0	0	0	1	0	0	0	14385	43	2	5	1948	5	SI	3	164735571	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	4339992	164735571	33286859	605	58819											
SLITRK3	22865	broad.mit.edu	37	chr3	164906992	164906992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttccaggacaccagccacggGaagatagaggaagtagttct	13	7	12	9	1	1	2	0	0	1	2	2	5	2	5	3	3	1	2	3	3	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:164906992G>A	ENST00000475390.1	-	2	2070	c.1627C>T	c.(1627-1629)Ccc>Tcc	p.P543S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P543S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	543						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCAGCCACGGGAAGATAGAGG	0.507										HNSCC(40;0.11)			14	33					0	0	0	0	A	164906992	G	A	164906992	3	1	328	1	0	0	0	0	1	0	0	0	14832	1174	41	2	1310	2	SLITRK3	3	164906992	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	171421	164906992	33115438	606	58820											
BCHE	590	broad.mit.edu	37	chr3	165548246	165548246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgatcaaataaacccatgttCcctggagcctcaggatttcc	11	11	7	12	0	2	1	2	1	0	0	4	3	4	3	4	2	2	1	4	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:165548246C>T	ENST00000264381.3	-	2	742	c.576G>A	c.(574-576)ggG>ggA	p.G192G	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	192					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AACCCATGTTCCCTGGAGCCT	0.428													28	49					0	0	0	0	T	165548246	C	T	165548246	2	4	328	1	0	0	0	0	0	0	0	1	1362	842	30	2		2	BCHE	3	165548246	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	641254	165548246	32474184	607	58821											
PLD1	5337	broad.mit.edu	37	chr3	171395396	171395396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaacccagtctttgaagacGaaattgcagtagtcctttcc	11	12	8	10	1	1	3	0	2	1	1	3	4	3	3	3	0	2	2	3	0	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:171395396G>A	ENST00000342215.6	-	15	1743	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L	PLD1_ENST00000356327.5_Silent_p.F614F|PLD1_ENST00000340989.4_Silent_p.F652F|PLD1_ENST00000351298.4_Silent_p.F652F			Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	0	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.F652F(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTTGAAGACGAAATTGCAGT	0.448													31	99					0	0	0	0	A	171395396	G	A	171395396	3	1	328	1	0	0	0	0	1	0	0	0	12117	1049	37	1	1312	1	PLD1	3	171395396	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5847150	171395396	26627034	608	58822											
GHSR	2693	broad.mit.edu	37	chr3	172165499	172165499	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccgccacagcttcctgccGatgagactgtagaggaccgt	8	8	11	14	3	0	2	0	1	0	2	2	5	2	3	5	1	2	2	5	1	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:172165499G>A	ENST00000241256.2	-	1	747	c.705C>T	c.(703-705)atC>atT	p.I235I	GHSR_ENST00000427970.1_Silent_p.I235I	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	235					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCTTCCTGCCGATGAGACTGT	0.592													27	27					0	0	0	0	A	172165499	G	A	172165499	2	1	328	1	0	0	0	0	0	0	0	1	6426	1048	37	1		1	GHSR	3	172165499	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	770103	172165499	25856931	609	58823											
NLGN1	22871	broad.mit.edu	37	chr3	173997364	173997364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttggccctacagagttatttCcttgcaatttctccaaaaat	11	15	5	10	0	1	1	0	0	1	1	3	1	2	1	3	1	2	2	3	1	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:173997364C>T	ENST00000457714.1	+	6	2002	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	NLGN1_ENST00000361589.4_Missense_Mutation_p.P525S|NLGN1_ENST00000545397.1_Missense_Mutation_p.P525S|NLGN1_ENST00000401917.3_Missense_Mutation_p.P565S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	542					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGAGTTATTTCCTTGCAATTT	0.443													14	44					0	0	0	0	T	173997364	C	T	173997364	3	4	328	1	0	0	0	0	1	0	0	0	10531	855	30	2	1587	2	NLGN1	3	173997364	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1831865	173997364	24025066	610	58824											
PIK3CA	5290	broad.mit.edu	37	chr3	178916924	178916924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttaaaagtaattgaacCagtaggcaaccgtgaagaaa	17	10	8	6	1	0	3	0	2	0	1	0	3	0	3	2	1	2	3	2	1	8	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:178916924C>T	ENST00000263967.3	+	2	468	c.311C>T	c.(310-312)cCa>cTa	p.P104L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	104	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.P104L(1)|p.P104R(1)|p.P104_G106>R(1)|p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTAATTGAACCAGTAGGCAAC	0.353		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			21	44					0	0	0	0	T	178916924	C	T	178916924	3	4	328	1	0	0	0	0	1	0	0	0	11985	594	21	4	313	4	PIK3CA	3	178916924	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4919560	178916924	19105506	611	58825											
PIK3CA	5290	broad.mit.edu	37	chr3	178937429	178937429	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacttctggactgtaattAcccagatcctatggttcgag	10	12	10	9	1	1	1	0	0	1	1	3	4	2	3	2	3	2	2	2	3	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:178937429A>G	ENST00000263967.3	+	12	1974	c.1817A>G	c.(1816-1818)tAc>tGc	p.Y606C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	606	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GACTGTAATTACCCAGATCCT	0.363		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	32					0	0	0	0	G	178937429	A	G	178937429	3	3	328	1	0	0	0	0	1	0	0	0	11985	391	14	5	1859	5	PIK3CA	3	178937429	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	20505	178937429	19085001	612	58826											
ZNF639	51193	broad.mit.edu	37	chr3	179051424	179051424	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacttaaagcagcatatgatCctgaagcataaacgtactga	16	9	8	8	1	0	3	0	3	0	0	1	4	1	3	1	0	5	4	1	0	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:179051424C>T	ENST00000326361.3	+	7	1117	c.672C>T	c.(670-672)atC>atT	p.I224I	ZNF639_ENST00000496856.1_Silent_p.I224I|ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000484866.1_Silent_p.I224I	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	224					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGCATATGATCCTGAAGCATA	0.378													19	42					0	0	0	0	T	179051424	C	T	179051424	2	4	328	1	0	0	0	0	0	0	0	1	18151	845	30	2		2	ZNF639	3	179051424	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	113995	179051424	18971006	613	58827											
PEX5L	51555	broad.mit.edu	37	chr3	179537752	179537752	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcttgcatcttatcccaaaActctgtatctgactgggaga	10	13	8	10	0	3	2	0	1	3	1	4	3	4	2	1	1	3	3	1	1	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:179537752A>G	ENST00000467460.1	-	9	1165	c.835T>C	c.(835-837)Ttt>Ctt	p.F279L	PEX5L_ENST00000485199.1_Missense_Mutation_p.F244L|PEX5L_ENST00000464614.1_Missense_Mutation_p.F171L|PEX5L_ENST00000476138.1_Missense_Mutation_p.F236L|PEX5L_ENST00000472994.1_Missense_Mutation_p.F220L|PEX5L_ENST00000392649.3_Missense_Mutation_p.F171L|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.F255L|PEX5L_ENST00000263962.8_Missense_Mutation_p.F277L|PEX5L_ENST00000468741.1_Missense_Mutation_p.F87L	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	279					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTATCCCAAAACTCTGTATCT	0.438													36	65					0	0	0	0	G	179537752	A	G	179537752	3	3	328	1	0	0	0	0	1	0	0	0	11821	43	2	5	1073	5	PEX5L	3	179537752	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	486328	179537752	18484678	614	58828											
PEX5L	51555	broad.mit.edu	37	chr3	179593248	179593248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttaacatcgtcccatttttCcagttgtgtttgaatgtcta	8	18	6	9	1	1	1	0	1	1	0	4	1	3	1	2	0	1	2	2	0	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:179593248C>T	ENST00000467460.1	-	6	853	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	PEX5L_ENST00000485199.1_Missense_Mutation_p.E140K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E67K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E132K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E116K|PEX5L_ENST00000392649.3_Missense_Mutation_p.E67K|PEX5L_ENST00000467440.2_5'UTR|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000465751.1_Missense_Mutation_p.E151K|PEX5L_ENST00000263962.8_Missense_Mutation_p.E173K|PEX5L_ENST00000468741.1_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	175					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCCCATTTTTCCAGTTGTGTT	0.517													18	33					0	0	0	0	T	179593248	C	T	179593248	3	4	328	1	0	0	0	0	1	0	0	0	11821	864	30	2	1397	2	PEX5L	3	179593248	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	55496	179593248	18429182	615	58829											
ATP11B	23200	broad.mit.edu	37	chr3	182605425	182605425	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatatttgttttacttccCtacctattctgatatatagt	11	19	3	8	0	1	1	0	1	1	0	2	1	2	1	2	0	2	1	2	0	8	11			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:182605425C>T	ENST00000323116.5	+	24	3027	c.2767C>T	c.(2767-2769)Cta>Tta	p.L923L		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	923					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTTTACTTCCCTACCTATTCT	0.343													31	67					0	0	0	0	T	182605425	C	T	182605425	2	4	328	1	0	0	0	0	0	0	0	1	1124	680	24	4		4	ATP11B	3	182605425	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3012177	182605425	15417005	616	58830											
MCCC1	56922	broad.mit.edu	37	chr3	182790237	182790237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaagttcagcaaattcCatgttttctgagagaaaacc	15	12	6	8	0	2	2	1	1	1	1	3	3	3	2	2	0	3	3	2	0	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:182790237C>T	ENST00000492597.1	-	4	783	c.81G>A	c.(79-81)atG>atA	p.M27I	MCCC1_ENST00000265594.4_Missense_Mutation_p.M136I|MCCC1_ENST00000539926.1_Start_Codon_SNP_p.M1I			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	136					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CAGCAAATTCCATGTTTTCTG	0.358													18	24					0	0	0	0	T	182790237	C	T	182790237	3	4	328	1	0	0	0	0	1	0	0	0	9443	594	21	4	1829	4	MCCC1	3	182790237	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	184812	182790237	15232193	617	58831											
DVL3	1857	broad.mit.edu	37	chr3	183887862	183887862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaccaggacacactggccCctttgccgcacccgggggcc	6	5	12	18	2	0	1	0	1	0	0	0	2	0	2	6	4	1	1	6	4	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:183887862C>T	ENST00000313143.3	+	14	1815	c.1567C>T	c.(1567-1569)Cct>Tct	p.P523S	DVL3_ENST00000431765.1_Missense_Mutation_p.P506S|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	523					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CACACTGGCCCCTTTGCCGCA	0.677													21	46					0	0	0	0	T	183887862	C	T	183887862	3	4	328	1	0	0	0	0	1	0	0	0	4873	623	22	4	1621	4	DVL3	3	183887862	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1097625	183887862	14134568	618	58832											
EHHADH	1962	broad.mit.edu	37	chr3	184910063	184910063	+	Missense_Mutation	SNP	G	G	A																															agctttgccattctttcaggGgagggtttccctgagaagcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:184910063G>A	ENST00000231887.3	-	7	2198	c.2123C>T	c.(2122-2124)cCc>cTc	p.P708L	EHHADH_ENST00000456310.1_Missense_Mutation_p.P612L	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	708						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TTCTTTCAGGGGAGGGTTTCC	0.453													30	63					0	0	0	0	A	184910063	G	A	184910063	3	1	328	1	0	0	0	0	1	0	0	0	5018	1232	43	4	52	4	EHHADH	3	184910063	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1022201	184910063	13112367	619	58833	526	2									
EHHADH	1962	broad.mit.edu	37	chr3	184910064	184910064	+	Missense_Mutation	SNP	G	G	A																															gctttgccattctttcagggGagggtttccctgagaagcca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:184910064G>A	ENST00000231887.3	-	7	2197	c.2122C>T	c.(2122-2124)Ccc>Tcc	p.P708S	EHHADH_ENST00000456310.1_Missense_Mutation_p.P612S	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	708						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TCTTTCAGGGGAGGGTTTCCC	0.448													29	63					0	0	0	0	A	184910064	G	A	184910064	3	1	328	1	0	0	0	0	1	0	0	0	5018	1174	41	2	53	2	EHHADH	3	184910064	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	184910064	13112366	620	58834	526	2									
ST6GAL1	6480	broad.mit.edu	37	chr3	186760702	186760702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcaagcagcacccaggacCcccacaggggccgccagacc	10	1	10	20	1	1	1	1	0	0	1	1	2	1	2	7	3	2	2	7	3	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:186760702C>T	ENST00000169298.3	+	4	885	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P71S	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	71					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CACCCAGGACCCCCACAGGGG	0.547													23	70					0	0	0	0	T	186760702	C	T	186760702	3	4	328	1	0	0	0	0	1	0	0	0	15311	623	22	4	213	4	ST6GAL1	3	186760702	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1850638	186760702	11261728	621	58835											
RTP1	132112	broad.mit.edu	37	chr3	186917660	186917660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcctgccaggagggcatCgtgcactggaagcccagcga	9	4	16	12	2	0	0	0	0	0	0	1	4	0	2	3	4	4	2	3	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:186917660C>T	ENST00000312295.4	+	2	624	c.594C>T	c.(592-594)atC>atT	p.I198I	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	198					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGGAGGGCATCGTGCACTGGA	0.701													18	19					0	0	0	0	T	186917660	C	T	186917660	2	4	328	1	0	0	0	0	0	0	0	1	13818	874	31	1		1	RTP1	3	186917660	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	156958	186917660	11104770	622	58836											
CPN2	1370	broad.mit.edu	37	chr3	194063239	194063239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actgccaaaagctctggtttCcaatgtggtgaacgaggtct	10	11	11	9	1	2	1	0	1	2	0	3	2	3	1	2	3	3	2	2	3	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:194063239C>T	ENST00000323830.3	-	2	282	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	CPN2_ENST00000429275.1_Missense_Mutation_p.E65K	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	65					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCTCTGGTTTCCAATGTGGTG	0.547													47	58					0	0	0	0	T	194063239	C	T	194063239	3	4	328	1	0	0	0	0	1	0	0	0	3840	864	30	2	1448	2	CPN2	3	194063239	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7145579	194063239	3959191	623	58837											
GP5	2814	broad.mit.edu	37	chr3	194118337	194118337	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaacggatgtgatttcggtgGaactgcagctccgtcagggc	8	9	15	9	3	1	1	1	1	0	0	3	4	2	3	1	4	4	2	1	4	2	1	rs146555099		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:194118337G>A	ENST00000401815.1	-	1	746	c.675C>T	c.(673-675)ttC>ttT	p.F225F	GP5_ENST00000323007.3_Silent_p.F225F			P40197	GPV_HUMAN	glycoprotein V (platelet)	225					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		p.F225F(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GATTTCGGTGGAACTGCAGCT	0.587													86	135					0	0	0	0	A	194118337	G	A	194118337	2	1	328	1	0	0	0	0	0	0	0	1	6632	1165	41	2		2	GP5	3	194118337	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	55098	194118337	3904093	624	58838											
MUC4	4585	broad.mit.edu	37	chr3	195496024	195496024	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcttggtaggtgttgctCtgggggtgggtggaagaaaa	8	11	19	3	0	1	1	0	0	1	1	1	2	1	2	0	7	1	4	0	7	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:195496024C>T	ENST00000463781.3	-	7	13858		c.e7-1		MUC4_ENST00000349607.4_Splice_Site|MUC4_ENST00000346145.4_Splice_Site|MUC4_ENST00000475231.1_Splice_Site	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated						cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGTGTTGCTCTGGGGGTGGG	0.632													10	14					0	0	0	0	T	195496024	C	T	195496024	5	4	328	1	0	0	0	0	0	0	1	0	10048	927	32	2	2916	2	MUC4	3	195496024	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1377687	195496024	2526406	625	58839											
MUC4	4585	broad.mit.edu	37	chr3	195518076	195518076	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgtgttggtgacactGgagggaaatgatgtggtcat	10	12	16	3	0	1	3	1	3	0	0	1	5	1	5	0	4	0	1	0	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:195518076G>A	ENST00000463781.3	-	2	834	c.375C>T	c.(373-375)tcC>tcT	p.S125S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.S125S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	130					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGTGACACTGGAGGGAAATG	0.448													20	35					0	0	0	0	A	195518076	G	A	195518076	2	1	328	1	0	0	0	0	0	0	0	1	10048	1335	47	4		4	MUC4	3	195518076	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	22052	195518076	2504354	626	58840											
PCYT1A	5130	broad.mit.edu	37	chr3	195997311	195997311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagcgctgcactttggaaGgaaccccatcttcttctgtt	8	12	8	13	1	3	0	0	0	3	0	3	2	3	2	2	2	3	3	2	2	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:195997311G>A	ENST00000292823.2	-	3	264	c.92C>T	c.(91-93)cCt>cTt	p.P31L	PCYT1A_ENST00000419333.1_Missense_Mutation_p.P31L|PCYT1A_ENST00000431016.1_Missense_Mutation_p.P31L|PCYT1A_ENST00000491544.1_5'UTR	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	31						cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	CACTTTGGAAGGAACCCCATC	0.498													101	196					0	0	0	0	A	195997311	G	A	195997311	3	1	328	1	0	0	0	0	1	0	0	0	11681	1000	35	4	1043	4	PCYT1A	3	195997311	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	479235	195997311	2025119	627	58841											
PIGZ	80235	broad.mit.edu	37	chr3	196674505	196674505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgaagaggagggcaccgagGgcgttgaagaggaccacagt	12	3	17	9	3	0	3	0	1	0	2	0	7	0	5	3	4	0	2	3	4	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:196674505G>A	ENST00000412723.1	-	3	1409	c.1263C>T	c.(1261-1263)gcC>gcT	p.A421A		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	421					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GGGCACCGAGGGCGTTGAAGA	0.647													10	16					0	0	0	0	A	196674505	G	A	196674505	2	1	328	1	0	0	0	0	0	0	0	1	11977	1219	43	4		4	PIGZ	3	196674505	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	677194	196674505	1347925	628	58842											
ZNF718	255403	broad.mit.edu	37	chr4	154896	154896	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttattaactacccagaaaAaaacaattcaatctaatata	20	11	2	8	0	2	1	1	0	1	1	2	1	2	1	1	0	3	1	1	0	11	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:154896A>T	ENST00000510175.1	+	0	331							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TACCCAGAAAAAAACAATTCA	0.249													3	8					0	0	0	0	T	154896	A	T	154896	1	4	328	0	1	0	0	0	0	0	0	0	18215	15	1	5		5	ZNF718	4	154896	RNA	SNP	A	TCGA-CV-7568-01A-11D-2229-08		154896	190999380	629	58843											
ZNF721	170960	broad.mit.edu	37	chr4	436842	436842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acattgcttacatttgtaggGtttctttccagtatgaattt	9	19	7	6	0	1	1	0	1	1	0	2	1	2	1	1	1	2	4	1	1	4	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:436842G>A	ENST00000338977.5	-	2	1426	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.P472S|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CATTTGTAGGGTTTCTTTCCA	0.368													7	19					0	0	0	0	A	436842	G	A	436842	3	1	328	1	0	0	0	0	1	0	0	0	18217	1261	44	4	1361	4	ZNF721	4	436842	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	281946	436842	190717434	630	58844											
PDE6B	5158	broad.mit.edu	37	chr4	657938	657938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagaagatcgtggatgagtCcaagaactaccaggacaaga	16	6	11	8	1	1	5	1	1	0	4	3	7	2	7	2	2	2	0	2	2	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:657938C>T	ENST00000255622.6	+	17	2100	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F	PDE6B_ENST00000429163.2_Missense_Mutation_p.S407F|PDE6B_ENST00000496514.1_Missense_Mutation_p.S686F	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	686					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GTGGATGAGTCCAAGAACTAC	0.617													32	34					0	0	0	0	T	657938	C	T	657938	3	4	328	1	0	0	0	0	1	0	0	0	11717	855	30	2	2123	2	PDE6B	4	657938	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	221096	657938	190496338	631	58845											
DGKQ	1609	broad.mit.edu	37	chr4	954459	954459	+	Silent	SNP	G	G	A																															gcatccgcccgggcatccctGgtggtcccggccctcctcgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:954459G>A	ENST00000273814.3	-	23	2851	c.2778C>T	c.(2776-2778)acC>acT	p.T926T		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	926					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGGCATCCCTGGTGGTCCCGG	0.677													20	25					0	0	0	0	A	954459	G	A	954459	2	1	328	1	0	0	0	0	0	0	0	1	4510	1335	47	4		4	DGKQ	4	954459	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	296521	954459	190199817	632	58846	527	2									
DGKQ	1609	broad.mit.edu	37	chr4	954460	954460	+	Missense_Mutation	SNP	G	G	A																															catccgcccgggcatccctgGtggtcccggccctcctcggc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:954460G>A	ENST00000273814.3	-	23	2850	c.2777C>T	c.(2776-2778)aCc>aTc	p.T926I		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	926					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCATCCCTGGTGGTCCCGGC	0.672													20	25					0	0	0	0	A	954460	G	A	954460	3	1	328	1	0	0	0	0	1	0	0	0	4510	1261	44	4	55	4	DGKQ	4	954460	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	954460	190199816	633	58847	527	2									
IDUA	3425	broad.mit.edu	37	chr4	981720	981720	+	Silent	SNP	G	G	A																															gtccggacccactggctgctGgagcttgtcaccaccaggtg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:981720G>A	ENST00000247933.4	+	2	370	c.282G>A	c.(280-282)ctG>ctA	p.L94L	IDUA_ENST00000453894.1_Intron|IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000361661.2_3'UTR	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	94					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	ACTGGCTGCTGGAGCTTGTCA	0.682													3	11					0	0	0	0	A	981720	G	A	981720	2	1	328	1	0	0	0	0	0	0	0	1	7557	1335	47	4		4	IDUA	4	981720	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	27260	981720	190172556	634	58848	528	2									
IDUA	3425	broad.mit.edu	37	chr4	981721	981721	+	Missense_Mutation	SNP	G	G	A																															tccggacccactggctgctgGagcttgtcaccaccaggtgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:981721G>A	ENST00000247933.4	+	2	371	c.283G>A	c.(283-285)Gag>Aag	p.E95K	IDUA_ENST00000453894.1_Intron|IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000361661.2_3'UTR	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	95					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	CTGGCTGCTGGAGCTTGTCAC	0.677													3	11					0	0	0	0	A	981721	G	A	981721	3	1	328	1	0	0	0	0	1	0	0	0	7557	1175	41	2	289	2	IDUA	4	981721	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	981721	190172555	635	58849	528	2									
SLC26A1	10861	broad.mit.edu	37	chr4	985327	985327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacgcagccagcgcgtggcGgggagcaggtcctgcaccag	7	4	17	13	4	0	1	0	1	0	0	1	2	1	2	3	4	4	3	3	4	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:985327G>A	ENST00000361661.2	-	3	542	c.165C>T	c.(163-165)ccC>ccT	p.P55P	IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398520.2_Silent_p.P55P|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Silent_p.P55P	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	55						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCGCGTGGCGGGGAGCAGGT	0.692													13	22					0	0	0	0	A	985327	G	A	985327	2	1	328	1	0	0	0	0	0	0	0	1	14602	1103	39	1		1	SLC26A1	4	985327	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3606	985327	190168949	636	58850											
IDUA	3425	broad.mit.edu	37	chr4	996897	996897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtggcggcgcctgggccgGcccgtcttccccacggcaga	4	5	16	16	5	1	1	0	0	1	1	2	2	2	1	5	5	0	1	5	5	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:996897G>A	ENST00000453894.1	+	7	1630	c.1542G>A	c.(1540-1542)cgG>cgA	p.R514R	IDUA_ENST00000514224.1_Silent_p.R360R|IDUA_ENST00000247933.4_Silent_p.R492R			P35475	IDUA_HUMAN	iduronidase, alpha-L-	492					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	GCCTGGGCCGGCCCGTCTTCC	0.776													3	6					0	0	0	0	A	996897	G	A	996897	2	1	328	1	0	0	0	0	0	0	0	1	7557	1190	42	4		4	IDUA	4	996897	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	11570	996897	190157379	637	58851											
FAM53A	152877	broad.mit.edu	37	chr4	1643077	1643077	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcccgggggaagacgccCtcctccccgacactgtcccc	5	4	12	20	4	0	1	0	0	0	1	3	3	3	2	7	3	0	0	7	3	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:1643077C>T	ENST00000308132.6	-	5	1332	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	FAM53A_ENST00000489363.1_3'UTR|FAM53A_ENST00000472884.2_Silent_p.E380E|FAM53A_ENST00000461064.1_Silent_p.E380E	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	380						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			GGAAGACGCCCTCCTCCCCGA	0.697													10	35					0	0	0	0	T	1643077	C	T	1643077	2	4	328	1	0	0	0	0	0	0	0	1	5626	680	24	4		4	FAM53A	4	1643077	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	646180	1643077	189511199	638	58852											
FGFR3	2261	broad.mit.edu	37	chr4	1803570	1803570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcccccacagagcgctccCcgcaccggcccatcctgcag	6	4	9	22	3	0	1	0	0	0	1	2	1	2	1	7	1	3	3	7	1	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:1803570C>T	ENST00000340107.4	+	7	1004	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	FGFR3_ENST00000412135.2_Missense_Mutation_p.P250S|FGFR3_ENST00000352904.1_Missense_Mutation_p.P250S|FGFR3_ENST00000260795.2_Missense_Mutation_p.P250S|FGFR3_ENST00000481110.2_Missense_Mutation_p.P250S|FGFR3_ENST00000440486.2_Missense_Mutation_p.P250S|FGFR3_ENST00000474521.1_3'UTR	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	250			P -> R (in MNKS; also some individuals with autosomal dominant congenital sensorineural deafness without craniosynostosis; dbSNP:rs4647924).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	AGAGCGCTCCCCGCACCGGCC	0.741		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				8	14					0	0	0	0	T	1803570	C	T	1803570	3	4	328	1	0	0	0	0	1	0	0	0	5912	623	22	4	770	4	FGFR3	4	1803570	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	160493	1803570	189350706	639	58853											
ZFYVE28	57732	broad.mit.edu	37	chr4	2274909	2274909	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggcactcacccttccttaActtttccttgtcgtctgttt	4	18	6	13	1	2	0	1	0	1	0	5	0	4	0	3	1	1	2	3	1	1	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:2274909A>C	ENST00000290974.2	-	10	2653	c.2314T>G	c.(2314-2316)Tta>Gta	p.L772V	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.L742V|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.L702V|ZFYVE28_ENST00000508471.1_Missense_Mutation_p.L77V	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	772					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCCTTCCTTAACTTTTCCTTG	0.552													19	66					0	0	0	0	C	2274909	A	C	2274909	3	2	328	1	0	0	0	0	1	0	0	0	17765	40	2	5	365	5	ZFYVE28	4	2274909	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	471339	2274909	188879367	640	58854											
TNIP2	79155	broad.mit.edu	37	chr4	2757795	2757795	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgccttcgcagctgctcccgGaagcgcgcaacctgctccag	6	7	11	17	4	0	0	0	0	0	0	3	1	2	1	4	1	6	5	4	1	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:2757795G>A	ENST00000315423.7	-	1	308	c.222C>T	c.(220-222)ttC>ttT	p.F74F	TNIP2_ENST00000503235.1_Silent_p.F74F|TNIP2_ENST00000510267.1_5'UTR	NM_024309.3	NP_077285.3	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	74						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTGCTCCCGGAAGCGCGCAA	0.751													3	4					0	0	0	0	A	2757795	G	A	2757795	2	1	328	1	0	0	0	0	0	0	0	1	16409	1165	41	2		2	TNIP2	4	2757795	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	482886	2757795	188396481	641	58855											
HTT	3064	broad.mit.edu	37	chr4	3117072	3117072	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgaacctgaagtcaagctcCcccaccattcggcggacagc	10	5	10	16	3	1	1	1	1	0	0	3	3	2	2	4	2	3	1	4	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:3117072C>T	ENST00000355072.5	+	7	934	c.789C>T	c.(787-789)tcC>tcT	p.S263S		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	263					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGTCAAGCTCCCCCACCATTC	0.453													24	18					0	0	0	0	T	3117072	C	T	3117072	2	4	328	1	0	0	0	0	0	0	0	1	7510	610	22	4		4	HTT	4	3117072	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	359277	3117072	188037204	642	58856											
HGFAC	3083	broad.mit.edu	37	chr4	3444616	3444616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgcccagggcagttccctCgagcagtagcccccaggccc	6	4	11	20	2	0	0	0	0	0	0	2	1	1	0	6	2	2	4	6	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:3444616C>T	ENST00000382774.3	+	2	390	c.275C>T	c.(274-276)tCg>tTg	p.S92L	HGFAC_ENST00000511533.1_Missense_Mutation_p.S92L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	92					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.S92*(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCAGTTCCCTCGAGCAGTAGC	0.677													14	23					0	0	0	0	T	3444616	C	T	3444616	3	4	328	1	0	0	0	0	1	0	0	0	7136	893	31	1	281	1	HGFAC	4	3444616	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	327544	3444616	187709660	643	58857											
EVC	2121	broad.mit.edu	37	chr4	5798856	5798856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgacgcagatgcggctatCggggaagaagcacctcctgc	9	6	13	13	3	0	3	0	1	0	2	2	4	1	4	3	3	3	3	3	3	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:5798856C>T	ENST00000382674.2	+	14	2178	c.1994C>T	c.(1993-1995)tCg>tTg	p.S665L	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Missense_Mutation_p.S665L			P57679	EVC_HUMAN	Ellis van Creveld syndrome	665					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATGCGGCTATCGGGGAAGAAG	0.682													18	23					0	0	0	0	T	5798856	C	T	5798856	3	4	328	1	0	0	0	0	1	0	0	0	5323	893	31	1	2048	1	EVC	4	5798856	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2354240	5798856	185355420	644	58858											
JAKMIP1	152789	broad.mit.edu	37	chr4	6055743	6055743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagagaatgtctgctcCgtttgagagtttacaacaga	13	12	9	7	1	2	3	1	1	1	3	3	5	3	3	1	0	3	3	1	0	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:6055743C>T	ENST00000282924.5	-	13	2325	c.1840G>A	c.(1840-1842)Gga>Aga	p.G614R	JAKMIP1_ENST00000409021.3_Intron|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.G449R|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.G614R	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	614	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGTCTGCTCCGTTTGAGAGT	0.388													25	91					0	0	0	0	T	6055743	C	T	6055743	3	4	328	1	0	0	0	0	1	0	0	0	7993	661	23	1	766	1	JAKMIP1	4	6055743	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	256887	6055743	185098533	645	58859											
PPP2R2C	5522	broad.mit.edu	37	chr4	6374335	6374335	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcgcagtcactgttgacGgagatggagttgatgtggta	8	12	15	6	2	2	3	1	2	1	1	3	5	2	4	0	3	0	4	0	3	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:6374335G>A	ENST00000335585.5	-	5	563	c.540C>T	c.(538-540)tcC>tcT	p.S180S	PPP2R2C_ENST00000507294.1_Silent_p.S173S|PPP2R2C_ENST00000382599.4_Silent_p.S180S|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000515571.1_Silent_p.S163S|PPP2R2C_ENST00000506140.1_Silent_p.S173S	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	180					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CACTGTTGACGGAGATGGAGT	0.572													26	89					0	0	0	0	A	6374335	G	A	6374335	2	1	328	1	0	0	0	0	0	0	0	1	12462	1103	39	1		1	PPP2R2C	4	6374335	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	318592	6374335	184779941	646	58860											
TBC1D14	57533	broad.mit.edu	37	chr4	6925544	6925544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtaaagctctatagccCgacctccaaagccctgaccc	10	7	7	17	2	1	1	0	1	1	0	3	2	2	1	5	1	3	2	5	1	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:6925544C>T	ENST00000409757.4	+	2	552	c.428C>T	c.(427-429)cCg>cTg	p.P143L	TBC1D14_ENST00000448507.1_Missense_Mutation_p.P143L	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	143						intracellular	Rab GTPase activator activity	p.P128Q(1)|p.P143Q(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CTCTATAGCCCGACCTCCAAA	0.602													18	100					0	0	0	0	T	6925544	C	T	6925544	3	4	328	1	0	0	0	0	1	0	0	0	15694	652	23	1	430	1	TBC1D14	4	6925544	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	551209	6925544	184228732	647	58861											
SH3TC1	54436	broad.mit.edu	37	chr4	8229705	8229705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccccagccccacagcctcCctgcccaaacttcccactac	8	5	3	25	0	0	0	0	0	0	0	2	0	2	0	9	0	5	0	9	0	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:8229705C>T	ENST00000539824.1	+	12	2430	c.2056C>T	c.(2056-2058)Cct>Tct	p.P686S	SH3TC1_ENST00000245105.3_Missense_Mutation_p.P762S			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	762							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCACAGCCTCCCTGCCCAAAC	0.692													14	45					0	0	0	0	T	8229705	C	T	8229705	3	4	328	1	0	0	0	0	1	0	0	0	14349	623	22	4	2326	4	SH3TC1	4	8229705	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1304161	8229705	182924571	648	58862											
CD38	952	broad.mit.edu	37	chr4	15835885	15835885	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggagaaaggactgcagcaAcaaccctgtttcagtattct	12	10	9	10	0	2	1	1	0	1	1	2	3	2	2	1	2	4	4	1	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:15835885A>G	ENST00000226279.2	+	4	682	c.545A>G	c.(544-546)aAc>aGc	p.N182S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	182					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GACTGCAGCAACAACCCTGTT	0.388													14	56					0	0	0	0	G	15835885	A	G	15835885	3	3	328	1	0	0	0	0	1	0	0	0	3038	43	2	5	559	5	CD38	4	15835885	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	7606180	15835885	175318391	649	58863											
TMEM156	80008	broad.mit.edu	37	chr4	39000474	39000474	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatttaaggaggagagtgaAtaggtaaaattagattgcaa	19	10	11	1	0	0	3	0	1	0	2	0	5	0	4	0	3	1	2	0	3	8	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:39000474A>C	ENST00000381938.3	-	2	251	c.144T>G	c.(142-144)taT>taG	p.Y48*	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	48			Y -> C (in dbSNP:rs35576563).			integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGGAGAGTGAATAGGTAAAAT	0.328													16	25					0	0	0	0	C	39000474	A	C	39000474	4	2	328	1	0	0	0	0	0	1	0	0	16167	108	4	5	766	5	TMEM156	4	39000474	Nonsense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	23164589	39000474	152153802	650	58864											
RBM47	54502	broad.mit.edu	37	chr4	40438596	40438596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagcagaatatcccccgaGgtaggaacccctaggccctg	11	5	10	15	1	0	1	0	0	0	1	1	3	1	2	6	3	2	2	6	3	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:40438596G>A	ENST00000381793.2	-	4	1588	c.1192C>T	c.(1192-1194)Ctc>Ttc	p.L398F	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.L398F|RBM47_ENST00000514014.1_Missense_Mutation_p.L360F|RBM47_ENST00000381795.6_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	398						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TATCCCCCGAGGTAGGAACCC	0.493													60	64					0	0	0	0	A	40438596	G	A	40438596	3	1	328	1	0	0	0	0	1	0	0	0	13223	1000	35	4	601	4	RBM47	4	40438596	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1438122	40438596	150715680	651	58865											
ATP8A1	10396	broad.mit.edu	37	chr4	42466779	42466779	+	Silent	SNP	G	G	A																															gagactctgttatagttccaGgcaccatgaatcatcagtaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:42466779G>A	ENST00000381668.5	-	27	2778	c.2547C>T	c.(2545-2547)gcC>gcT	p.A849A	ATP8A1_ENST00000264449.10_Silent_p.A834A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	849					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TATAGTTCCAGGCACCATGAA	0.328													15	44					0	0	0	0	A	42466779	G	A	42466779	2	1	328	1	0	0	0	0	0	0	0	1	1196	987	35	4		4	ATP8A1	4	42466779	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2028183	42466779	148687497	652	58866	529	2									
ATP8A1	10396	broad.mit.edu	37	chr4	42466780	42466780	+	Missense_Mutation	SNP	G	G	A																															agactctgttatagttccagGcaccatgaatcatcagtaaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:42466780G>A	ENST00000381668.5	-	27	2777	c.2546C>T	c.(2545-2547)gCc>gTc	p.A849V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A834V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	849					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATAGTTCCAGGCACCATGAAT	0.328													15	43					0	0	0	0	A	42466780	G	A	42466780	3	1	328	1	0	0	0	0	1	0	0	0	1196	1203	42	4	992	4	ATP8A1	4	42466780	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	42466780	148687496	653	58867	529	2									
GABRA2	2555	broad.mit.edu	37	chr4	46264115	46264115	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattccgagcactgatgcttAgagttgtcattgttaggaca	11	13	10	7	1	1	2	1	1	0	1	2	4	2	3	1	1	2	4	1	1	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:46264115A>T	ENST00000510861.1	-	9	1060	c.887T>A	c.(886-888)cTa>cAa	p.L296Q	GABRA2_ENST00000381620.4_Missense_Mutation_p.L296Q|GABRA2_ENST00000514090.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000540012.1_Missense_Mutation_p.L241Q|GABRA2_ENST00000507069.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000515082.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000356504.1_Missense_Mutation_p.L296Q			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	296					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTGATGCTTAGAGTTGTCAT	0.418													12	42					0	0	0	0	T	46264115	A	T	46264115	3	4	328	1	0	0	0	0	1	0	0	0	6209	420	15	5	476	5	GABRA2	4	46264115	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	3797335	46264115	144890161	654	58868											
ATP10D	57205	broad.mit.edu	37	chr4	47559989	47559989	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaatggcaaggcagagtcCctccctggacagccattggc	9	7	12	13	0	0	2	0	1	0	1	2	3	2	3	3	4	1	2	3	4	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:47559989C>T	ENST00000273859.3	+	12	2402	c.2133C>T	c.(2131-2133)tcC>tcT	p.S711S	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	711					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGGCAGAGTCCCTCCCTGGAC	0.572													11	35					0	0	0	0	T	47559989	C	T	47559989	2	4	328	1	0	0	0	0	0	0	0	1	1122	610	22	4		4	ATP10D	4	47559989	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1295874	47559989	143594287	655	58869											
FRYL	285527	broad.mit.edu	37	chr4	48542845	48542845	+	Silent	SNP	G	G	A																															atcaaacttaatctcaaagaGttacttcttgcattactgtt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:48542845G>A	ENST00000358350.4	-	46	6424	c.5820C>T	c.(5818-5820)aaC>aaT	p.N1940N	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Silent_p.N1940N|FRYL_ENST00000503238.1_Silent_p.N1940N	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1940					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATCTCAAAGAGTTACTTCTTG	0.418													19	27					0	0	0	0	A	48542845	G	A	48542845	2	1	328	1	0	0	0	0	0	0	0	1	6112	1020	36	4		4	FRYL	4	48542845	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	982856	48542845	142611431	656	58870	530	2									
FRYL	285527	broad.mit.edu	37	chr4	48542846	48542846	+	Missense_Mutation	SNP	T	T	A																															tcaaacttaatctcaaagagTtacttcttgcattactgtta																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:48542846T>A	ENST00000358350.4	-	46	6423	c.5819A>T	c.(5818-5820)aAc>aTc	p.N1940I	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.N1940I|FRYL_ENST00000503238.1_Missense_Mutation_p.N1940I	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1940					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTCAAAGAGTTACTTCTTGC	0.413													19	27					0	0	0	0	A	48542846	T	A	48542846	3	1	328	1	0	0	0	0	1	0	0	0	6112	1725	60	5	3298	5	FRYL	4	48542846	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1	48542846	142611430	657	58871	530	2									
KDR	3791	broad.mit.edu	37	chr4	55955873	55955873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttacctaaggaaaatatttCccacagcaaaacaccaaaag	19	7	4	11	0	0	0	0	0	0	0	1	1	1	1	3	1	3	1	3	1	9	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:55955873C>T	ENST00000263923.4	-	24	3584	c.3289G>A	c.(3289-3291)Gaa>Aaa	p.E1097K	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1097	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GAAAATATTTCCCACAGCAAA	0.423			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			24	76					0	0	0	0	T	55955873	C	T	55955873	3	4	328	1	0	0	0	0	1	0	0	0	8191	864	30	2	809	2	KDR	4	55955873	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7413027	55955873	135198403	658	58872											
KDR	3791	broad.mit.edu	37	chr4	55968595	55968595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggagggggattcccagatgCcgtgcatgagacttcgatgc	8	9	15	9	2	0	2	0	1	0	2	2	6	1	4	2	3	3	1	2	3	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:55968595C>T	ENST00000263923.4	-	14	2363	c.2068G>A	c.(2068-2070)Gca>Aca	p.A690T		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	690	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTCCCAGATGCCGTGCATGAG	0.458			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			13	61					0	0	0	0	T	55968595	C	T	55968595	3	4	328	1	0	0	0	0	1	0	0	0	8191	739	26	4	2070	4	KDR	4	55968595	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	12722	55968595	135185681	659	58873											
UBA6	55236	broad.mit.edu	37	chr4	68497581	68497581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatttatacttactgccatCttttaatcgtatgtccagag	11	16	5	9	1	1	1	0	0	1	1	3	1	2	1	2	0	3	1	2	0	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:68497581C>T	ENST00000322244.4	-	24	2247	c.2188G>A	c.(2188-2190)Gat>Aat	p.D730N		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	730					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTACTGCCATCTTTTAATCGT	0.294													12	20					0	0	0	0	T	68497581	C	T	68497581	3	4	328	1	0	0	0	0	1	0	0	0	16928	913	32	2	1010	2	UBA6	4	68497581	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	12528986	68497581	122656695	660	58874											
UGT2B7	7364	broad.mit.edu	37	chr4	69962911	69962911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttactttgacttttggttcGaaatatttgacatgaagaag	12	17	8	4	1	0	4	0	3	0	1	1	5	0	4	0	1	1	1	0	1	5	8	rs146308452	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:69962911G>A	ENST00000305231.7	+	1	719	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	UGT2B7_ENST00000508661.1_Missense_Mutation_p.E225K|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	225					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E225K(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTTTGGTTCGAAATATTTGA	0.318													17	46					0	0	0	0	A	69962911	G	A	69962911	3	1	328	1	0	0	0	0	1	0	0	0	17058	1059	37	1	675	1	UGT2B7	4	69962911	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1465330	69962911	121191365	661	58875											
UGT2B28	54490	broad.mit.edu	37	chr4	70146252	70146252	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcagttcttctgctgAtacatctcggttgttacttt	6	18	8	9	1	4	1	1	1	3	0	5	2	4	2	0	2	3	4	0	2	2	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:70146252A>C	ENST00000335568.5	+	1	36	c.34A>C	c.(34-36)Ata>Cta	p.I12L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.I12L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	12					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TCTTCTGCTGATACATCTCGG	0.413													67	87					0	0	0	0	C	70146252	A	C	70146252	3	2	328	1	0	0	0	0	1	0	0	0	17056	333	12	5	36	5	UGT2B28	4	70146252	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	183341	70146252	121008024	662	58876											
UGT2B4	7363	broad.mit.edu	37	chr4	70346427	70346427	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattttgtgatgatgaatatCacagttgccacacaggccag	12	11	9	9	0	1	3	1	3	0	0	1	3	1	3	2	1	1	1	2	1	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:70346427C>T	ENST00000305107.6	-	6	1558	c.1512G>A	c.(1510-1512)gtG>gtA	p.V504V	UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000381096.3_Silent_p.V368V|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	504					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.V504V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGATGAATATCACAGTTGCCA	0.488													55	64					0	0	0	0	T	70346427	C	T	70346427	2	4	328	1	0	0	0	0	0	0	0	1	17057	813	29	2		2	UGT2B4	4	70346427	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	200175	70346427	120807849	663	58877											
SMR3A	26952	broad.mit.edu	37	chr4	71232381	71232381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggtgagagtcaaagaggCcccaggggaccatatccacc	11	5	12	13	0	1	2	1	1	0	2	2	4	2	3	6	4	0	0	6	4	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:71232381C>T	ENST00000226460.4	+	3	171	c.75C>T	c.(73-75)ggC>ggT	p.G25G		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	25						extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GTCAAAGAGGCCCCAGGGGAC	0.453													31	33					0	0	0	0	T	71232381	C	T	71232381	2	4	328	1	0	0	0	0	0	0	0	1	14899	726	26	4		4	SMR3A	4	71232381	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	885954	71232381	119921895	664	58878											
AMBN	258	broad.mit.edu	37	chr4	71468991	71468991	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaaagattttccaaatagcCcgtttgatttctcacggacc	11	14	6	10	2	1	2	1	1	1	1	3	3	2	3	3	1	1	1	3	1	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:71468991C>T	ENST00000322937.6	+	10	766	c.663C>T	c.(661-663)gcC>gcT	p.A221A	AMBN_ENST00000449493.2_Silent_p.A206A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	221					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCCAAATAGCCCGTTTGATTT	0.318													6	22					0	0	0	0	T	71468991	C	T	71468991	2	4	328	1	0	0	0	0	0	0	0	1	563	610	22	4		4	AMBN	4	71468991	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	236610	71468991	119685285	665	58879											
SLC4A4	8671	broad.mit.edu	37	chr4	72412180	72412180	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcatctccattgctcacatCgacagtttgaagatggagac	11	11	9	10	1	3	3	2	1	1	2	5	5	3	3	1	1	1	2	1	1	1	2	rs112375238		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:72412180C>T	ENST00000340595.3	+	16	2620	c.2424C>T	c.(2422-2424)atC>atT	p.I808I	SLC4A4_ENST00000425175.1_Silent_p.I852I|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000264485.5_Silent_p.I852I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	852						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTGCTCACATCGACAGTTTGA	0.478													9	39					0	0	0	0	T	72412180	C	T	72412180	2	4	328	1	0	0	0	0	0	0	0	1	14744	874	31	1		1	SLC4A4	4	72412180	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	943189	72412180	118742096	666	58880											
ALB	213	broad.mit.edu	37	chr4	74277775	74277775	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaagtttccaagttagTgacagatcttaccaaagtcc	13	11	8	9	0	1	3	0	1	1	2	3	3	3	3	3	0	2	3	3	0	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:74277775T>A	ENST00000295897.4	+	7	865	c.776T>A	c.(775-777)gTg>gAg	p.V259E	ALB_ENST00000401494.3_Missense_Mutation_p.V144E|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.V67E|ALB_ENST00000503124.1_Missense_Mutation_p.V109E|ALB_ENST00000509063.1_Missense_Mutation_p.V259E	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	259	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TCCAAGTTAGTGACAGATCTT	0.438													29	38					0	0	0	0	A	74277775	T	A	74277775	3	1	328	1	0	0	0	0	1	0	0	0	486	1696	59	5	802	5	ALB	4	74277775	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1865595	74277775	116876501	667	58881											
ALB	213	broad.mit.edu	37	chr4	74277801	74277801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcttaccaaagtccacacgGaatgctgccatggagatctg	12	9	9	11	1	2	1	0	0	2	1	3	3	3	2	3	2	3	1	3	2	3	1	rs78340021		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:74277801G>A	ENST00000295897.4	+	7	891	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	ALB_ENST00000401494.3_Missense_Mutation_p.E153K|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.E76K|ALB_ENST00000503124.1_Missense_Mutation_p.E118K|ALB_ENST00000509063.1_Missense_Mutation_p.E268K	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	268	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.V265fs*8(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGTCCACACGGAATGCTGCCA	0.453													36	45					0	0	0	0	A	74277801	G	A	74277801	3	1	328	1	0	0	0	0	1	0	0	0	486	1175	41	2	828	2	ALB	4	74277801	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	26	74277801	116876475	668	58882											
ALB	213	broad.mit.edu	37	chr4	74279294	74279294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcattagctgctgattttgTtgaaagtaaggatgtttgca	10	17	10	4	0	1	2	1	2	0	0	1	3	1	3	0	1	3	6	0	1	3	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:74279294T>C	ENST00000295897.4	+	8	1090	c.1001T>C	c.(1000-1002)gTt>gCt	p.V334A	ALB_ENST00000401494.3_Missense_Mutation_p.V219A|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.V142A|ALB_ENST00000503124.1_Missense_Mutation_p.V184A|ALB_ENST00000509063.1_Missense_Mutation_p.V334A	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	334	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GCTGATTTTGTTGAAAGTAAG	0.403													39	42					0	0	0	0	C	74279294	T	C	74279294	3	2	328	1	0	0	0	0	1	0	0	0	486	1725	60	5	1031	5	ALB	4	74279294	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1493	74279294	116874982	669	58883											
PPEF2	5470	broad.mit.edu	37	chr4	76797633	76797633	+	Missense_Mutation	SNP	G	G	A																															cgtccagggaaccgctgcagGggatgctggaggacctgctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:76797633G>A	ENST00000286719.7	-	11	1483	c.1127C>T	c.(1126-1128)cCc>cTc	p.P376L		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	376	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACCGCTGCAGGGGATGCTGGA	0.662													11	16					0	0	0	0	A	76797633	G	A	76797633	3	1	328	1	0	0	0	0	1	0	0	0	12379	1232	43	4	1162	4	PPEF2	4	76797633	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2518339	76797633	114356643	670	58884	531	2									
PPEF2	5470	broad.mit.edu	37	chr4	76797634	76797634	+	Missense_Mutation	SNP	G	G	A																															gtccagggaaccgctgcaggGgatgctggaggacctgctgg																								rs138339033		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:76797634G>A	ENST00000286719.7	-	11	1482	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	376	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCGCTGCAGGGGATGCTGGAG	0.657													11	16					0	0	0	0	A	76797634	G	A	76797634	3	1	328	1	0	0	0	0	1	0	0	0	12379	1232	43	4	1163	4	PPEF2	4	76797634	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	76797634	114356642	671	58885	531	2									
FRAS1	80144	broad.mit.edu	37	chr4	79360167	79360167	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatatttaccatcatgatCactcctgctgaaaatccacc	13	11	4	13	0	2	3	2	2	0	1	4	3	4	3	4	0	2	1	4	0	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:79360167C>T	ENST00000264895.6	+	40	5918	c.5478C>T	c.(5476-5478)atC>atT	p.I1826I	FRAS1_ENST00000325942.6_Silent_p.I1826I	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1825					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCATCATGATCACTCCTGCTG	0.398													67	86					0	0	0	0	T	79360167	C	T	79360167	2	4	328	1	0	0	0	0	0	0	0	1	6089	816	29	2		2	FRAS1	4	79360167	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2562533	79360167	111794109	672	58886											
ANXA3	306	broad.mit.edu	37	chr4	79522687	79522687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgtgtgaggaacacgccgGcctttttagccgaaagactg	10	10	12	9	3	0	2	0	1	0	1	0	4	0	3	3	2	2	0	3	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:79522687G>A	ENST00000264908.6	+	11	1133	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	ANXA3_ENST00000512884.1_Missense_Mutation_p.A213T|ANXA3_ENST00000503570.2_Missense_Mutation_p.A213T	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	252					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GAACACGCCGGCCTTTTTAGC	0.383													27	55					0	0	0	0	A	79522687	G	A	79522687	3	1	328	1	0	0	0	0	1	0	0	0	718	1203	42	4	792	4	ANXA3	4	79522687	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	162520	79522687	111631589	673	58887											
GK2	2712	broad.mit.edu	37	chr4	80328892	80328892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacattgtcaagcatccaacGaagttttactgcactgaagt	13	11	7	10	1	1	1	1	1	0	0	2	2	2	1	1	0	4	3	1	0	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:80328892G>A	ENST00000358842.3	-	1	480	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	155					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AGCATCCAACGAAGTTTTACT	0.408													25	87					0	0	0	0	A	80328892	G	A	80328892	3	1	328	1	0	0	0	0	1	0	0	0	6472	1058	37	1	1202	1	GK2	4	80328892	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	806205	80328892	110825384	674	58888											
BMP3	651	broad.mit.edu	37	chr4	81967227	81967227	+	Missense_Mutation	SNP	G	G	A																															aaaatgaagagttcctcataGgatttaacattacgtccaag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:81967227G>A	ENST00000282701.2	+	2	972	c.652G>A	c.(652-654)Gga>Aga	p.G218R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	218					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GTTCCTCATAGGATTTAACAT	0.433													71	52					0	0	0	0	A	81967227	G	A	81967227	3	1	328	1	0	0	0	0	1	0	0	0	1466	1001	35	4	658	4	BMP3	4	81967227	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1638335	81967227	109187049	675	58889	532	2									
BMP3	651	broad.mit.edu	37	chr4	81967228	81967228	+	Missense_Mutation	SNP	G	G	A																															aaatgaagagttcctcatagGatttaacattacgtccaagg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:81967228G>A	ENST00000282701.2	+	2	973	c.653G>A	c.(652-654)gGa>gAa	p.G218E		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	218					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TTCCTCATAGGATTTAACATT	0.438													73	51					0	0	0	0	A	81967228	G	A	81967228	3	1	328	1	0	0	0	0	1	0	0	0	1466	1174	41	2	659	2	BMP3	4	81967228	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	81967228	109187048	676	58890	532	2									
SPARCL1	8404	broad.mit.edu	37	chr4	88414792	88414792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattttcatgtactttttctCtttgctcctcaattttgagg	6	21	5	9	0	3	1	2	1	1	0	5	1	4	1	1	1	2	2	1	1	2	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:88414792C>T	ENST00000418378.1	-	5	1731	c.1160G>A	c.(1159-1161)aGa>aAa	p.R387K	SPARCL1_ENST00000282470.6_Missense_Mutation_p.R387K|SPARCL1_ENST00000503414.1_Missense_Mutation_p.R262K	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	387					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TACTTTTTCTCTTTGCTCCTC	0.433													14	38					0	0	0	0	T	88414792	C	T	88414792	3	4	328	1	0	0	0	0	1	0	0	0	15086	913	32	2	866	2	SPARCL1	4	88414792	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6447564	88414792	102739484	677	58891											
MMRN1	22915	broad.mit.edu	37	chr4	90856006	90856006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgataagagacatagtaaGagaacaatttaaaatttttc	19	12	6	4	0	0	3	0	1	0	2	1	5	0	3	0	0	1	1	0	0	7	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:90856006G>A	ENST00000394980.1	+	7	1494	c.1175G>A	c.(1174-1176)aGa>aAa	p.R392K	MMRN1_ENST00000508372.1_Missense_Mutation_p.R134K|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.R392K			Q13201	MMRN1_HUMAN	multimerin 1	392					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GACATAGTAAGAGAACAATTT	0.318													32	45					0	0	0	0	A	90856006	G	A	90856006	3	1	328	1	0	0	0	0	1	0	0	0	9740	942	33	2	1197	2	MMRN1	4	90856006	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2441214	90856006	100298270	678	58892											
MTTP	4547	broad.mit.edu	37	chr4	100530113	100530113	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccattgttcaagacatccTacgttttgaaatgcctgcaa	11	12	7	11	2	1	2	1	1	0	1	2	2	2	2	3	0	3	3	3	0	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:100530113T>C	ENST00000457717.1	+	13	2004	c.1748T>C	c.(1747-1749)cTa>cCa	p.L583P	MTTP_ENST00000511045.1_Missense_Mutation_p.L610P|MTTP_ENST00000265517.5_Missense_Mutation_p.L583P|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	583	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CAAGACATCCTACGTTTTGAA	0.403													24	73					0	0	0	0	C	100530113	T	C	100530113	3	2	328	1	0	0	0	0	1	0	0	0	10034	1522	53	5	1794	5	MTTP	4	100530113	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	9674107	100530113	90624163	679	58893											
PPP3CA	5530	broad.mit.edu	37	chr4	101984395	101984395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attccacaacatacctttttCcccaacaaatggaagggacc	14	9	5	13	0	0	0	0	0	0	0	2	2	2	2	5	2	3	0	5	2	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:101984395C>T	ENST00000394854.3	-	9	1758	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	PPP3CA_ENST00000394853.4_Missense_Mutation_p.E359K|PPP3CA_ENST00000512215.1_Missense_Mutation_p.E127K|PPP3CA_ENST00000523694.2_Missense_Mutation_p.E292K|PPP3CA_ENST00000507176.1_Missense_Mutation_p.E261K|PPP3CA_ENST00000323055.6_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	359					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		ATACCTTTTTCCCCAACAAAT	0.383													13	23					0	0	0	0	T	101984395	C	T	101984395	3	4	328	1	0	0	0	0	1	0	0	0	12473	864	30	2	514	2	PPP3CA	4	101984395	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1454282	101984395	89169881	680	58894											
COL25A1	84570	broad.mit.edu	37	chr4	109740457	109740457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaggctggcctggctccCctttttcccccttaacgcca	4	10	9	18	1	0	0	0	0	0	0	2	0	2	0	7	4	1	2	7	4	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:109740457C>T	ENST00000399132.1	-	36	2404	c.1874G>A	c.(1873-1875)gGg>gAg	p.G625E		NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	625	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCCTGGCTCCCCTTTTTCCCC	0.458													27	23					0	0	0	0	T	109740457	C	T	109740457	3	4	328	1	0	0	0	0	1	0	0	0	3714	623	22	4	102	4	COL25A1	4	109740457	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7756062	109740457	81413819	681	58895											
GAR1	54433	broad.mit.edu	37	chr4	110740164	110740164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaaaataatagtatttttCagttaagttgtcagaaaaca	18	14	6	3	0	2	2	2	1	0	1	2	2	2	2	0	0	1	3	0	0	8	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:110740164C>T	ENST00000226796.6	+	4	641	c.377C>T	c.(376-378)tCa>tTa	p.S126L	GAR1_ENST00000394631.3_Missense_Mutation_p.S126L	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	126					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TAGTATTTTTCAGTTAAGTTG	0.299													26	26					0	0	0	0	T	110740164	C	T	110740164	3	4	328	1	0	0	0	0	1	0	0	0	6289	838	29	2	387	2	GAR1	4	110740164	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	999707	110740164	80414112	682	58896											
NDST4	64579	broad.mit.edu	37	chr4	115997399	115997399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaaaagtactctctgaattCcatcatgaagccccagatcc	14	9	5	13	0	2	3	1	2	1	1	5	3	4	3	4	0	2	1	4	0	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:115997399C>T	ENST00000264363.2	-	2	1472	c.794G>A	c.(793-795)gGa>gAa	p.G265E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	265	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCTCTGAATTCCATCATGAAG	0.433													54	68					0	0	0	0	T	115997399	C	T	115997399	3	4	328	1	0	0	0	0	1	0	0	0	10328	855	30	2	1876	2	NDST4	4	115997399	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5257235	115997399	75156877	683	58897											
PDE5A	8654	broad.mit.edu	37	chr4	120481450	120481450	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtagagaatacgtgcttttaCcttgttaatgtatcagatga	12	15	9	5	1	1	3	1	1	0	2	1	4	1	3	1	0	3	4	1	0	6	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:120481450C>T	ENST00000354960.3	-	7	1519		c.e7+1		PDE5A_ENST00000264805.5_Splice_Site|PDE5A_ENST00000394439.1_Splice_Site	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific						platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	CGTGCTTTTACCTTGTTAATG	0.308													14	13					0	0	0	0	T	120481450	C	T	120481450	5	4	328	1	0	0	0	0	0	0	1	0	11715	521	18	4	1487	4	PDE5A	4	120481450	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4484051	120481450	70672826	684	58898											
BBS7	55212	broad.mit.edu	37	chr4	122791435	122791435	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctatcccttgggtttacctGcagataatccattcggttta	8	15	7	11	1	0	1	0	0	0	1	3	1	2	1	4	2	2	3	4	2	4	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:122791435G>A	ENST00000264499.4	-	1	217	c.34C>T	c.(34-36)Cag>Tag	p.Q12*	BBS7_ENST00000506636.1_Nonsense_Mutation_p.Q12*	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	12					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GGGTTTACCTGCAGATAATCC	0.597									Bardet-Biedl syndrome				15	44					0	0	0	0	A	122791435	G	A	122791435	4	1	328	1	0	0	0	0	0	1	0	0	1345	1328	46	4	2194	4	BBS7	4	122791435	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2309985	122791435	68362841	685	58899											
ADAD1	132612	broad.mit.edu	37	chr4	123302227	123302227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctccaaaaaaaatacctaagGaatttataatgaaatacaaa	23	9	3	6	0	0	1	0	1	0	0	1	2	1	2	2	1	2	0	2	1	12	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:123302227G>A	ENST00000296513.2	+	4	438	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	ADAD1_ENST00000388725.2_Missense_Mutation_p.E67K|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.E85K	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	85					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.E85K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AATACCTAAGGAATTTATAAT	0.368													33	37					0	0	0	0	A	123302227	G	A	123302227	3	1	328	1	0	0	0	0	1	0	0	0	231	1175	41	2	259	2	ADAD1	4	123302227	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	510792	123302227	67852049	686	58900											
FAT4	79633	broad.mit.edu	37	chr4	126240237	126240237	+	Missense_Mutation	SNP	C	C	T																															aggatttgaatgacaactctCcccatttccttcaggcaata																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:126240237C>T	ENST00000394329.3	+	1	2684	c.2671C>T	c.(2671-2673)Ccc>Tcc	p.P891S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	891	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGACAACTCTCCCCATTTCCT	0.473													9	26					0	0	0	0	T	126240237	C	T	126240237	3	4	328	1	0	0	0	0	1	0	0	0	5737	855	30	2	2673	2	FAT4	4	126240237	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2938010	126240237	64914039	687	58901	533	2									
FAT4	79633	broad.mit.edu	37	chr4	126240238	126240238	+	Missense_Mutation	SNP	C	C	T																															ggatttgaatgacaactctcCccatttccttcaggcaatag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:126240238C>T	ENST00000394329.3	+	1	2685	c.2672C>T	c.(2671-2673)cCc>cTc	p.P891L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	891	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GACAACTCTCCCCATTTCCTT	0.478													8	25					0	0	0	0	T	126240238	C	T	126240238	3	4	328	1	0	0	0	0	1	0	0	0	5737	623	22	4	2674	4	FAT4	4	126240238	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	126240238	64914038	688	58902	533	2									
FAT4	79633	broad.mit.edu	37	chr4	126370528	126370528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatgttcctgaaaattcccCcttaggatacacagttaccc	11	11	5	14	0	0	1	0	1	0	0	2	2	2	2	5	1	2	2	5	1	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:126370528C>T	ENST00000394329.3	+	9	8370	c.8357C>T	c.(8356-8358)cCc>cTc	p.P2786L	FAT4_ENST00000335110.5_Missense_Mutation_p.P1084L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2786	Cadherin 27.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAAATTCCCCCTTAGGATAC	0.363													63	68					0	0	0	0	T	126370528	C	T	126370528	3	4	328	1	0	0	0	0	1	0	0	0	5737	623	22	4	8391	4	FAT4	4	126370528	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	130290	126370528	64783748	689	58903											
FAT4	79633	broad.mit.edu	37	chr4	126372376	126372376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttgatgcaaatgacccacCcatttttactctaaacatct	12	13	4	12	0	2	2	0	2	2	0	2	2	2	2	2	0	3	2	2	0	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:126372376C>T	ENST00000394329.3	+	9	10218	c.10205C>T	c.(10204-10206)cCc>cTc	p.P3402L	FAT4_ENST00000335110.5_Missense_Mutation_p.P1700L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3402	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATGACCCACCCATTTTTACT	0.458													36	94					0	0	0	0	T	126372376	C	T	126372376	3	4	328	1	0	0	0	0	1	0	0	0	5737	623	22	4	10239	4	FAT4	4	126372376	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1848	126372376	64781900	690	58904											
FAT4	79633	broad.mit.edu	37	chr4	126411592	126411592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaggccaaaaatcccaaaGaggagaagaaaccgaaggag	21	1	12	7	1	0	4	0	0	0	4	1	7	1	5	3	3	1	0	3	3	7	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:126411592G>A	ENST00000394329.3	+	17	13628	c.13615G>A	c.(13615-13617)Gag>Aag	p.E4539K	FAT4_ENST00000335110.5_Missense_Mutation_p.E2780K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4539					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATCCCAAAGAGGAGAAGAA	0.527													12	34					0	0	0	0	A	126411592	G	A	126411592	3	1	328	1	0	0	0	0	1	0	0	0	5737	943	33	2	13681	2	FAT4	4	126411592	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	39216	126411592	64742684	691	58905											
PLK4	10733	broad.mit.edu	37	chr4	128811293	128811293	+	Missense_Mutation	SNP	C	C	T																															gcaagactaggggtatggagCcaccatggggttatcagaat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:128811293C>T	ENST00000270861.5	+	7	2006	c.1732C>T	c.(1732-1734)Cca>Tca	p.P578S	PLK4_ENST00000515069.1_Missense_Mutation_p.P500S|PLK4_ENST00000514379.1_Missense_Mutation_p.P537S|PLK4_ENST00000513090.1_Missense_Mutation_p.P546S|PLK4_ENST00000507249.1_Missense_Mutation_p.P544S	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	578					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GGGTATGGAGCCACCATGGGG	0.418													9	38					0	0	0	0	T	128811293	C	T	128811293	3	4	328	1	0	0	0	0	1	0	0	0	12170	739	26	4	1758	4	PLK4	4	128811293	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2399701	128811293	62342983	692	58906	534	2									
PLK4	10733	broad.mit.edu	37	chr4	128811294	128811294	+	Missense_Mutation	SNP	C	C	T																															caagactaggggtatggagcCaccatggggttatcagaatc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:128811294C>T	ENST00000270861.5	+	7	2007	c.1733C>T	c.(1732-1734)cCa>cTa	p.P578L	PLK4_ENST00000515069.1_Missense_Mutation_p.P500L|PLK4_ENST00000514379.1_Missense_Mutation_p.P537L|PLK4_ENST00000513090.1_Missense_Mutation_p.P546L|PLK4_ENST00000507249.1_Missense_Mutation_p.P544L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	578					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GGTATGGAGCCACCATGGGGT	0.418													9	38					0	0	0	0	T	128811294	C	T	128811294	3	4	328	1	0	0	0	0	1	0	0	0	12170	594	21	4	1759	4	PLK4	4	128811294	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	128811294	62342982	693	58907	534	2									
C4orf29	80167	broad.mit.edu	37	chr4	128951758	128951758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttacaagaaatttggcCtggttgtgaaatccgatact	13	13	9	6	1	0	2	0	1	0	1	1	3	1	2	2	2	2	2	2	2	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:128951758C>T	ENST00000388795.5	+	12	1431	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	C4orf29_ENST00000444616.1_Missense_Mutation_p.P391L|C4orf29_ENST00000398965.1_Missense_Mutation_p.P391L			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	391						extracellular region				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GAAATTTGGCCTGGTTGTGAA	0.408													8	41					0	0	0	0	T	128951758	C	T	128951758	3	4	328	1	0	0	0	0	1	0	0	0	2280	681	24	4	1210	4	C4orf29	4	128951758	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	140464	128951758	62202518	694	58908											
PGRMC2	10424	broad.mit.edu	37	chr4	129208548	129208548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgggccgtagaacttgctgCctttggtcacgtcgaagact	7	10	12	12	4	1	2	1	0	0	2	2	3	1	2	3	2	3	2	3	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:129208548C>T	ENST00000520121.1	-	1	1436	c.470G>A	c.(469-471)gGc>gAc	p.G157D	PGRMC2_ENST00000512483.1_Intron|PGRMC2_ENST00000296425.5_Missense_Mutation_p.G133D	NM_006320.4	NP_006311.2			progesterone receptor membrane component 2																		GAACTTGCTGCCTTTGGTCAC	0.642													12	17					0	0	0	0	T	129208548	C	T	129208548	3	4	328	1	0	0	0	0	1	0	0	0	11879	739	26	4	285	4	PGRMC2	4	129208548	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	256790	129208548	61945728	695	58909											
PCDH10	57575	broad.mit.edu	37	chr4	134072073	134072073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgtctacactgtgtccctaCcagagaactctcccccaggc	8	8	7	18	1	2	1	0	0	2	1	4	2	3	1	5	1	3	0	5	1	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:134072073C>T	ENST00000264360.4	+	1	1604	c.778C>T	c.(778-780)Cca>Tca	p.P260S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	260	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGTGTCCCTACCAGAGAACTC	0.617													12	63					0	0	0	0	T	134072073	C	T	134072073	3	4	328	1	0	0	0	0	1	0	0	0	11578	507	18	4	780	4	PCDH10	4	134072073	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4863525	134072073	57082203	696	58910											
CLGN	1047	broad.mit.edu	37	chr4	141313408	141313408	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcattttgcttttttTcctcttccaggtccattggt	5	19	5	12	0	2	0	1	0	1	0	5	0	5	0	4	2	1	1	4	2	0	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:141313408T>C	ENST00000325617.5	-	13	2056	c.1616A>G	c.(1615-1617)gAa>gGa	p.E539G	CLGN_ENST00000537281.1_Missense_Mutation_p.E539G|CLGN_ENST00000414773.1_Missense_Mutation_p.E539G	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	539					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TTGCTTTTTTTCCTCTTCCAG	0.373													61	73					0	0	0	0	C	141313408	T	C	141313408	3	2	328	1	0	0	0	0	1	0	0	0	3554	1783	62	5	228	5	CLGN	4	141313408	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	7241335	141313408	49840868	697	58911											
KIAA0922	23240	broad.mit.edu	37	chr4	154553967	154553967	+	Silent	SNP	G	G	A																															ggcgtgccttgtgtgattcaGgagtcggccccggttcataa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:154553967G>A	ENST00000409663.3	+	32	4354	c.4302G>A	c.(4300-4302)caG>caA	p.Q1434Q	KIAA0922_ENST00000440693.1_Silent_p.Q1351Q|KIAA0922_ENST00000409959.3_Silent_p.Q1435Q	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1434						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GTGTGATTCAGGAGTCGGCCC	0.512													23	38					0	0	0	0	A	154553967	G	A	154553967	2	1	328	1	0	0	0	0	0	0	0	1	8252	991	35	4		4	KIAA0922	4	154553967	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	13240559	154553967	36600309	698	58912	535	2									
KIAA0922	23240	broad.mit.edu	37	chr4	154553968	154553968	+	Missense_Mutation	SNP	G	G	A																															gcgtgccttgtgtgattcagGagtcggccccggttcataat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:154553968G>A	ENST00000409663.3	+	32	4355	c.4303G>A	c.(4303-4305)Gag>Aag	p.E1435K	KIAA0922_ENST00000440693.1_Missense_Mutation_p.E1352K|KIAA0922_ENST00000409959.3_Missense_Mutation_p.E1436K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1435						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGTGATTCAGGAGTCGGCCCC	0.517													23	38					0	0	0	0	A	154553968	G	A	154553968	3	1	328	1	0	0	0	0	1	0	0	0	8252	1175	41	2	4432	2	KIAA0922	4	154553968	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	154553968	36600308	699	58913	535	2									
MAP9	79884	broad.mit.edu	37	chr4	156281504	156281504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacatggtctgctgaaaatGaattctctttattttcatct	10	18	5	8	0	5	2	2	2	3	0	6	2	5	2	0	1	1	1	0	1	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:156281504G>A	ENST00000311277.4	-	7	1129	c.866C>T	c.(865-867)tCa>tTa	p.S289L	AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Intron|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000597831.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	289					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TGCTGAAAATGAATTCTCTTT	0.363													8	30					0	0	0	0	A	156281504	G	A	156281504	3	1	328	1	0	0	0	0	1	0	0	0	9339	1294	45	2	1109	2	MAP9	4	156281504	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1727536	156281504	34872772	700	58914											
TRIM60	166655	broad.mit.edu	37	chr4	165962216	165962216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacatttgttatgacccaaGgagattttatgtctgccctg	11	14	8	8	0	1	2	0	1	1	1	1	3	1	2	2	1	2	1	2	1	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:165962216G>A	ENST00000512596.1	+	3	1208	c.992G>A	c.(991-993)aGg>aAg	p.R331K	TRIM60_ENST00000341062.5_Missense_Mutation_p.R331K|TRIM60_ENST00000508504.1_Missense_Mutation_p.R331K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	331	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TATGACCCAAGGAGATTTTAT	0.408													27	42					0	0	0	0	A	165962216	G	A	165962216	3	1	328	1	0	0	0	0	1	0	0	0	16630	1000	35	4	994	4	TRIM60	4	165962216	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	9680712	165962216	25192060	701	58915											
TRIM60	166655	broad.mit.edu	37	chr4	165962293	165962293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attactgggaagtagaagtgGgaaacaaacctaaatggata	18	8	11	4	0	0	1	0	0	0	1	0	4	0	4	1	3	3	1	1	3	9	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:165962293G>A	ENST00000512596.1	+	3	1285	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R	TRIM60_ENST00000341062.5_Missense_Mutation_p.G357R|TRIM60_ENST00000508504.1_Missense_Mutation_p.G357R	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	357	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AGTAGAAGTGGGAAACAAACC	0.473													33	40					0	0	0	0	A	165962293	G	A	165962293	3	1	328	1	0	0	0	0	1	0	0	0	16630	1233	43	4	1071	4	TRIM60	4	165962293	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	77	165962293	25191983	702	58916											
PALLD	23022	broad.mit.edu	37	chr4	169632828	169632828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccaatcttggagacaagttCcttggagttggcttcaaaga	11	12	10	8	0	2	2	1	0	1	2	4	4	4	3	2	3	0	3	2	3	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:169632828C>T	ENST00000335742.7	+	10	1929	c.572C>T	c.(571-573)tCc>tTc	p.S191F	PALLD_ENST00000261509.6_Missense_Mutation_p.S573F|PALLD_ENST00000505667.1_Missense_Mutation_p.S573F|PALLD_ENST00000512127.1_Missense_Mutation_p.S191F			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	573					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAGACAAGTTCCTTGGAGTTG	0.478									Pancreatic Cancer, Familial Clustering of				25	28					0	0	0	0	T	169632828	C	T	169632828	3	4	328	1	0	0	0	0	1	0	0	0	11478	855	30	2	1752	2	PALLD	4	169632828	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3670535	169632828	21521448	703	58917											
ADAM29	11086	broad.mit.edu	37	chr4	175897606	175897606	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggaatgtgtacaccacaCcgtagttgtgcaattgttac	12	11	10	8	1	0	1	0	0	0	1	0	2	0	2	2	1	3	5	2	1	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:175897606C>T	ENST00000359240.3	+	5	1600	c.930C>T	c.(928-930)caC>caT	p.H310H	ADAM29_ENST00000404450.4_Silent_p.H310H|ADAM29_ENST00000514159.1_Silent_p.H310H|ADAM29_ENST00000445694.1_Silent_p.H310H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	310	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTACACCACACCGTAGTTGTG	0.423													34	85					0	0	0	0	T	175897606	C	T	175897606	2	4	328	1	0	0	0	0	0	0	0	1	247	506	18	4		4	ADAM29	4	175897606	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6264778	175897606	15256670	704	58918											
WDR17	116966	broad.mit.edu	37	chr4	177089908	177089908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttctacccaggatgtactGaagagataaatgaccttcat	13	12	7	9	0	2	3	1	2	1	1	2	5	2	4	2	1	2	1	2	1	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:177089908G>A	ENST00000393643.2	+	24	3373	c.3121G>A	c.(3121-3123)Gaa>Aaa	p.E1041K	WDR17_ENST00000507824.2_Missense_Mutation_p.E1040K|WDR17_ENST00000280190.4_Missense_Mutation_p.E1065K|WDR17_ENST00000508596.1_Missense_Mutation_p.E1026K	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1065										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGGATGTACTGAAGAGATAAA	0.338													30	43					0	0	0	0	A	177089908	G	A	177089908	3	1	328	1	0	0	0	0	1	0	0	0	17373	1291	45	2	3287	2	WDR17	4	177089908	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1192302	177089908	14064368	705	58919											
VEGFC	7424	broad.mit.edu	37	chr4	177608422	177608422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcacaggcacattttccaGgatttaggggttgatttctg	9	15	10	7	0	2	1	1	1	1	0	3	2	3	2	1	4	0	2	1	4	1	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:177608422G>A	ENST00000280193.2	-	6	1479	c.1064C>T	c.(1063-1065)cCt>cTt	p.P355L	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	355	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.P355H(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACATTTTCCAGGATTTAGGGG	0.438													42	114					0	0	0	0	A	177608422	G	A	177608422	3	1	328	1	0	0	0	0	1	0	0	0	17248	1000	35	4	206	4	VEGFC	4	177608422	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	518514	177608422	13545854	706	58920											
ENPP6	133121	broad.mit.edu	37	chr4	185018506	185018506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtgctgttcatccaaaacgGaagcatctctcgattctgaa	11	11	9	10	2	3	1	1	1	2	0	6	3	4	2	1	2	3	3	1	2	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:185018506G>A	ENST00000296741.2	-	7	1150	c.1009C>T	c.(1009-1011)Ccg>Tcg	p.P337S		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	337					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		ATCCAAAACGGAAGCATCTCT	0.602													20	30					0	0	0	0	A	185018506	G	A	185018506	3	1	328	1	0	0	0	0	1	0	0	0	5172	1174	41	2	321	2	ENPP6	4	185018506	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7410084	185018506	6135770	707	58921											
CASP3	836	broad.mit.edu	37	chr4	185552944	185552944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taatgaaaagtttgggttttCcagttagacttctacaacga	13	14	8	6	1	1	2	0	1	1	1	2	3	2	2	1	1	2	3	1	1	6	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:185552944C>T	ENST00000308394.4	-	6	720	c.458G>A	c.(457-459)gGa>gAa	p.G153E	CASP3_ENST00000393588.4_Missense_Mutation_p.G153E|CASP3_ENST00000517513.1_Missense_Mutation_p.G153E|CASP3_ENST00000393585.2_Missense_Mutation_p.G153E|CASP3_ENST00000523916.1_Missense_Mutation_p.G153E	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	153					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	TTTGGGTTTTCCAGTTAGACT	0.353													16	39					0	0	0	0	T	185552944	C	T	185552944	3	4	328	1	0	0	0	0	1	0	0	0	2697	855	30	2	387	2	CASP3	4	185552944	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	534438	185552944	5601332	708	58922											
SNX25	83891	broad.mit.edu	37	chr4	186253747	186253747	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtatgtgactctccccctAgggcccaagagatgaggctg	8	9	13	11	0	1	3	0	2	1	1	2	4	1	3	3	3	0	2	3	3	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:186253747A>C	ENST00000504273.1	+	10	1551		c.e10-1		SNX25_ENST00000512853.1_Splice_Site|SNX25_ENST00000264694.8_Splice_Site			Q9H3E2	SNX25_HUMAN	sorting nexin 25						cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CTCTCCCCCTAGGGCCCAAGA	0.418													11	31					0	0	0	0	C	186253747	A	C	186253747	5	2	328	1	0	0	0	0	0	0	1	0	14984	434	15	5	1290	5	SNX25	4	186253747	Splice_Site	SNP	A	TCGA-CV-7568-01A-11D-2229-08	700803	186253747	4900529	709	58923											
TRIML1	339976	broad.mit.edu	37	chr4	189060748	189060748	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggagaacctcagggaGgaactcacctgtttcatctg	10	10	11	10	0	4	2	3	1	1	1	4	5	4	4	2	3	2	1	2	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:189060748G>A	ENST00000332517.3	+	1	176	c.36G>A	c.(34-36)gaG>gaA	p.E12E		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	12					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACCTCAGGGAGGAACTCACCT	0.527													26	88					0	0	0	0	A	189060748	G	A	189060748	2	1	328	1	0	0	0	0	0	0	0	1	16645	991	35	4		4	TRIML1	4	189060748	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2807001	189060748	2093528	710	58924											
TRIML1	339976	broad.mit.edu	37	chr4	189060943	189060943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggggaggctggccagcatCgccaggcagctccggtccca	6	5	15	15	2	0	0	0	0	0	0	3	1	2	1	4	6	2	4	4	6	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:189060943C>T	ENST00000332517.3	+	1	371	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	77					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGGCCAGCATCGCCAGGCAGC	0.627													15	50					0	0	0	0	T	189060943	C	T	189060943	2	4	328	1	0	0	0	0	0	0	0	1	16645	874	31	1		1	TRIML1	4	189060943	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	195	189060943	2093333	711	58925											
IRX4	50805	broad.mit.edu	37	chr5	1880923	1880923	+	Missense_Mutation	SNP	G	G	A																															ggcccccatgcgcagatcccGaaccatccttggaatcaaag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:1880923G>A	ENST00000505790.1	-	4	779	c.323C>T	c.(322-324)tCg>tTg	p.S108L	IRX4_ENST00000231357.2_Missense_Mutation_p.S108L|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.S108L	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	108					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CGCAGATCCCGAACCATCCTT	0.632													21	66					0	0	0	0	A	1880923	G	A	1880923	3	1	328	1	0	0	0	0	1	0	0	0	7899	1059	37	1	1248	1	IRX4	5	1880923	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08		1880923	179034337	712	58926	536	2									
IRX4	50805	broad.mit.edu	37	chr5	1880924	1880924	+	Missense_Mutation	SNP	A	A	C																															gcccccatgcgcagatcccgAaccatccttggaatcaaagc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:1880924A>C	ENST00000505790.1	-	4	778	c.322T>G	c.(322-324)Tcg>Gcg	p.S108A	IRX4_ENST00000231357.2_Missense_Mutation_p.S108A|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.S108A	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	108					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCAGATCCCGAACCATCCTTG	0.637													22	65					0	0	0	0	C	1880924	A	C	1880924	3	2	328	1	0	0	0	0	1	0	0	0	7899	246	9	5	1249	5	IRX4	5	1880924	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	1	1880924	179034336	713	58927	536	2									
NSUN2	54888	broad.mit.edu	37	chr5	6606978	6606978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggaataaatacaaatGgatcttctttaaatccaaat	17	13	4	7	0	3	0	1	0	2	0	4	2	4	2	1	2	1	0	1	2	8	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:6606978G>A	ENST00000264670.6	-	14	1867	c.1556C>T	c.(1555-1557)cCa>cTa	p.P519L	NSUN2_ENST00000539938.1_Missense_Mutation_p.P283L|NSUN2_ENST00000506139.1_Missense_Mutation_p.P484L	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	519						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AAATACAAATGGATCTTCTTT	0.313													31	41					0	0	0	0	A	6606978	G	A	6606978	3	1	328	1	0	0	0	0	1	0	0	0	10749	1348	47	4	771	4	NSUN2	5	6606978	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4726054	6606978	174308282	714	58928											
ADCY2	108	broad.mit.edu	37	chr5	7626395	7626395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctgtaattgcatcaagtCgcggatcaagttggaatttg	11	12	10	8	2	2	0	2	0	0	0	3	2	2	2	1	2	1	3	1	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:7626395C>T	ENST00000338316.4	+	4	775	c.686C>T	c.(685-687)tCg>tTg	p.S229L		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	229					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGCATCAAGTCGCGGATCAAG	0.393													27	56					0	0	0	0	T	7626395	C	T	7626395	3	4	328	1	0	0	0	0	1	0	0	0	294	893	31	1	700	1	ADCY2	5	7626395	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1019417	7626395	173288865	715	58929											
ADCY2	108	broad.mit.edu	37	chr5	7789866	7789866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgctgctggagaacgtgcttCccgcgcacgtggctgagcac	6	8	14	13	4	0	2	0	1	0	1	1	3	1	2	1	2	5	6	1	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:7789866C>T	ENST00000338316.4	+	20	2670	c.2581C>T	c.(2581-2583)Ccc>Tcc	p.P861S	ADCY2_ENST00000537121.1_Missense_Mutation_p.P681S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	861					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAACGTGCTTCCCGCGCACGT	0.577													18	21					0	0	0	0	T	7789866	C	T	7789866	3	4	328	1	0	0	0	0	1	0	0	0	294	855	30	2	2659	2	ADCY2	5	7789866	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	163471	7789866	173125394	716	58930											
DNAH5	1767	broad.mit.edu	37	chr5	13735280	13735280	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttcatgcttgactcggttCctctggatgtcaatctttag	6	17	8	10	1	5	1	2	1	3	0	7	2	6	2	1	2	1	2	1	2	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:13735280C>T	ENST00000265104.4	-	68	11825	c.11721G>A	c.(11719-11721)agG>agA	p.R3907R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3907					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGACTCGGTTCCTCTGGATGT	0.438									Kartagener syndrome				27	43					0	0	0	0	T	13735280	C	T	13735280	2	4	328	1	0	0	0	0	0	0	0	1	4641	854	30	2		2	DNAH5	5	13735280	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5945414	13735280	167179980	717	58931											
DNAH5	1767	broad.mit.edu	37	chr5	13830774	13830774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaaaccacgacgtatttcCcgaggcatcgtcccatgtct	10	10	8	13	4	1	1	0	1	1	0	4	3	3	1	3	1	1	2	3	1	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:13830774C>T	ENST00000265104.4	-	36	6097	c.5993G>A	c.(5992-5994)gGg>gAg	p.G1998E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1998	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACGTATTTCCCGAGGCATCG	0.488									Kartagener syndrome				33	48					0	0	0	0	T	13830774	C	T	13830774	3	4	328	1	0	0	0	0	1	0	0	0	4641	623	22	4	8057	4	DNAH5	5	13830774	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	95494	13830774	167084486	718	58932											
DNAH5	1767	broad.mit.edu	37	chr5	13865992	13865992	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagtatatgtgatgtatttCcgatagatattatcaaattg	13	16	7	5	1	1	2	1	1	0	1	2	3	2	2	2	0	0	2	2	0	7	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:13865992C>T	ENST00000265104.4	-	27	4244	c.4140G>A	c.(4138-4140)cgG>cgA	p.R1380R	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1380	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATGTATTTCCGATAGATAT	0.323									Kartagener syndrome				20	34					0	0	0	0	T	13865992	C	T	13865992	2	4	328	1	0	0	0	0	0	0	0	1	4641	842	30	2		2	DNAH5	5	13865992	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	35218	13865992	167049268	719	58933											
DNAH5	1767	broad.mit.edu	37	chr5	13883178	13883178	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgggcaaactgttctgCttcatgttagaggcactgtt	11	13	10	7	0	2	1	1	0	1	1	2	1	2	1	0	2	2	6	0	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:13883178C>T	ENST00000265104.4	-	20	3113	c.3009G>A	c.(3007-3009)aaG>aaA	p.K1003K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1003	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K1003N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACTGTTCTGCTTCATGTTAG	0.433									Kartagener syndrome				33	49					0	0	0	0	T	13883178	C	T	13883178	2	4	328	1	0	0	0	0	0	0	0	1	4641	796	28	4		4	DNAH5	5	13883178	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	17186	13883178	167032082	720	58934											
MYO10	4651	broad.mit.edu	37	chr5	16701600	16701600	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctctcagccagctcgctGgaaaattcgcttcccaccga	8	8	9	16	4	1	0	1	0	1	0	5	2	2	1	3	1	2	4	3	1	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:16701600G>A	ENST00000513610.1	-	25	3358	c.2904C>T	c.(2902-2904)tcC>tcT	p.S968S	MYO10_ENST00000427430.2_Silent_p.S325S|MYO10_ENST00000505695.1_Silent_p.S307S|MYO10_ENST00000515803.1_Silent_p.S307S|MYO10_ENST00000274203.9_Silent_p.S325S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	968					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCAGCTCGCTGGAAAATTCGC	0.607													16	32					0	0	0	0	A	16701600	G	A	16701600	2	1	328	1	0	0	0	0	0	0	0	1	10132	1335	47	4		4	MYO10	5	16701600	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2818422	16701600	164213660	721	58935											
MYO10	4651	broad.mit.edu	37	chr5	16701760	16701760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctcctgcagcttctgcaggGaagcctcggtcagcgacagc	7	7	13	14	2	2	0	1	0	1	0	4	2	3	1	2	2	6	4	2	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:16701760G>A	ENST00000513610.1	-	25	3198	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	MYO10_ENST00000427430.2_Missense_Mutation_p.S272F|MYO10_ENST00000505695.1_Missense_Mutation_p.S254F|MYO10_ENST00000515803.1_Missense_Mutation_p.S254F|MYO10_ENST00000274203.9_Missense_Mutation_p.S272F	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	915					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTTCTGCAGGGAAGCCTCGGT	0.607													11	20					0	0	0	0	A	16701760	G	A	16701760	3	1	328	1	0	0	0	0	1	0	0	0	10132	1174	41	2	3500	2	MYO10	5	16701760	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	160	16701760	164213500	722	58936											
CDH18	1016	broad.mit.edu	37	chr5	19473415	19473415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccccagtctccaaggtagtGataatcctggtctgattgtg	8	13	10	10	0	2	2	0	2	2	0	5	2	4	2	4	2	0	1	4	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:19473415G>A	ENST00000507958.1	-	15	3283	c.2293C>T	c.(2293-2295)Cac>Tac	p.H765Y	CDH18_ENST00000274170.4_Missense_Mutation_p.H765Y|CDH18_ENST00000382275.1_Missense_Mutation_p.H765Y|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	765					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)					CCAAGGTAGTGATAATCCTGG	0.448													25	34					0	0	0	0	A	19473415	G	A	19473415	3	1	328	1	0	0	0	0	1	0	0	0	3132	1290	45	2	83	2	CDH18	5	19473415	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2771655	19473415	161441845	723	58937											
PRDM9	56979	broad.mit.edu	37	chr5	23526363	23526363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaagccagagatccatcCatgtccctcatgctgtctgg	10	9	8	14	0	2	1	1	0	1	1	5	2	5	1	5	1	2	1	5	1	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:23526363C>T	ENST00000296682.3	+	11	1348	c.1166C>T	c.(1165-1167)cCa>cTa	p.P389L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	389					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGATCCATCCATGTCCCTCA	0.438										HNSCC(3;0.000094)			32	54					0	0	0	0	T	23526363	C	T	23526363	3	4	328	1	0	0	0	0	1	0	0	0	12543	594	21	4	1204	4	PRDM9	5	23526363	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4052948	23526363	157388897	724	58938											
CDH10	1008	broad.mit.edu	37	chr5	24488014	24488014	+	Missense_Mutation	SNP	C	C	T																															attaatgaaatcccggacgtCcgtgttatctggagctgtag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24488014C>T	ENST00000264463.4	-	12	2632	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	709					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCCCGGACGTCCGTGTTATCT	0.473										HNSCC(23;0.051)			30	47					0	0	0	0	T	24488014	C	T	24488014	3	4	328	1	0	0	0	0	1	0	0	0	3125	855	30	2	245	2	CDH10	5	24488014	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	961651	24488014	156427246	725	58939	537	2									
CDH10	1008	broad.mit.edu	37	chr5	24488015	24488015	+	Silent	SNP	C	C	T																															ttaatgaaatcccggacgtcCgtgttatctggagctgtagg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24488015C>T	ENST00000264463.4	-	12	2631	c.2124G>A	c.(2122-2124)acG>acA	p.T708T	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	708					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCCGGACGTCCGTGTTATCTG	0.473										HNSCC(23;0.051)			30	47					0	0	0	0	T	24488015	C	T	24488015	2	4	328	1	0	0	0	0	0	0	0	1	3125	639	23	1		1	CDH10	5	24488015	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	24488015	156427245	726	58940	537	2									
CDH10	1008	broad.mit.edu	37	chr5	24488039	24488039	+	Silent	SNP	C	C	T																															ttatctggagctgtaggagtCctccgaggaataaataacgt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24488039C>T	ENST00000264463.4	-	12	2607	c.2100G>A	c.(2098-2100)agG>agA	p.R700R	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	700					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGTAGGAGTCCTCCGAGGAA	0.498										HNSCC(23;0.051)			33	43					0	0	0	0	T	24488039	C	T	24488039	2	4	328	1	0	0	0	0	0	0	0	1	3125	854	30	2		2	CDH10	5	24488039	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	24	24488039	156427221	727	58941	538	2									
CDH10	1008	broad.mit.edu	37	chr5	24488040	24488040	+	Missense_Mutation	SNP	C	C	T																															tatctggagctgtaggagtcCtccgaggaataaataacgtt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24488040C>T	ENST00000264463.4	-	12	2606	c.2099G>A	c.(2098-2100)aGg>aAg	p.R700K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	700					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGTAGGAGTCCTCCGAGGAAT	0.493										HNSCC(23;0.051)			33	43					0	0	0	0	T	24488040	C	T	24488040	3	4	328	1	0	0	0	0	1	0	0	0	3125	681	24	4	271	4	CDH10	5	24488040	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	24488040	156427220	728	58942	538	2									
CDH10	1008	broad.mit.edu	37	chr5	24535388	24535388	+	Splice_Site	SNP	C	C	T																															gtaaagcagtcctgatgataCcttgagaaaatataaaaaaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24535388C>T	ENST00000264463.4	-	5	1154	c.646_splice	c.e5-1	p.G216_splice		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	216	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTGATGATACCTTGAGAAAA	0.368										HNSCC(23;0.051)			18	36					0	0	0	0	T	24535388	C	T	24535388	5	4	328	1	0	0	0	0	0	0	1	0	3125	521	18	4	1751	4	CDH10	5	24535388	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	47348	24535388	156379872	729	58943	539	2									
CDH10	1008	broad.mit.edu	37	chr5	24535389	24535389	+	Splice_Site	SNP	C	C	T																															taaagcagtcctgatgatacCttgagaaaatataaaaaaac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24535389C>T	ENST00000264463.4	-	5	1154		c.e5-1			NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGATGATACCTTGAGAAAAT	0.368										HNSCC(23;0.051)			17	36					0	0	0	0	T	24535389	C	T	24535389	5	4	328	1	0	0	0	0	0	0	1	0	3125	695	24	4	1752	4	CDH10	5	24535389	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	24535389	156379871	730	58944	539	2									
CDH9	1007	broad.mit.edu	37	chr5	26915831	26915831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgtattttaatgataaattCcgattccggttccacctgcc	10	15	6	10	2	0	1	0	1	0	0	3	2	3	1	5	1	1	2	5	1	4	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:26915831C>T	ENST00000231021.4	-	3	602	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	144	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATGATAAATTCCGATTCCGGT	0.398													44	92					0	0	0	0	T	26915831	C	T	26915831	3	4	328	1	0	0	0	0	1	0	0	0	3146	864	30	2	1979	2	CDH9	5	26915831	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2380442	26915831	153999429	731	58945											
CDH6	1004	broad.mit.edu	37	chr5	31302366	31302366	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatgtttgatgtcatcacCgaccaggaaacccaggaagg	13	8	11	9	1	2	1	2	1	0	0	2	5	2	3	3	3	1	1	3	3	3	2	rs148607405		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:31302366C>T	ENST00000265071.2	+	6	1225	c.960C>T	c.(958-960)acC>acT	p.T320T	CDH6_ENST00000514738.1_Silent_p.T265T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	320	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATGTCATCACCGACCAGGAAA	0.453													21	42					0	0	0	0	T	31302366	C	T	31302366	2	4	328	1	0	0	0	0	0	0	0	1	3143	639	23	1		1	CDH6	5	31302366	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4386535	31302366	149612894	732	58946											
ADAMTS12	81792	broad.mit.edu	37	chr5	33561153	33561153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgctccagtttcccactttCcagccagcacagggacggag	8	9	10	14	1	0	0	0	0	0	0	3	2	3	2	4	2	3	3	4	2	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:33561153C>G	ENST00000504830.1	-	20	4439	c.4104G>C	c.(4102-4104)tgG>tgC	p.W1368C	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.W1283C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1368	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTCCCACTTTCCAGCCAGCAC	0.527										HNSCC(64;0.19)			44	92					0	0	0	0	G	33561153	C	G	33561153	3	3	328	1	0	0	0	0	1	0	0	0	257	856	30	2	700	2	ADAMTS12	5	33561153	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2258787	33561153	147354107	733	58947											
SPEF2	79925	broad.mit.edu	37	chr5	35806928	35806928	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacagaaggatgaagaaatCcctgaaaatgcaaacaatga	21	5	9	6	0	0	5	0	3	0	2	1	7	1	6	1	1	3	1	1	1	8	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:35806928C>T	ENST00000440995.2	+	35	5115	c.5115C>T	c.(5113-5115)atC>atT	p.I1705I	SPEF2_ENST00000356031.3_Silent_p.I1710I|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Silent_p.I507I			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1710					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGAAGAAATCCCTGAAAATG	0.433													16	31					0	0	0	0	T	35806928	C	T	35806928	2	4	328	1	0	0	0	0	0	0	0	1	15125	845	30	2		2	SPEF2	5	35806928	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2245775	35806928	145108332	734	58948											
IL7R	3575	broad.mit.edu	37	chr5	35876315	35876315	+	Silent	SNP	C	C	T																															agagattcatccctcacatgCctggctgggaatgtcagtgc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:35876315C>T	ENST00000303115.3	+	8	1236	c.1107C>T	c.(1105-1107)tgC>tgT	p.C369C	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	369					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCCTCACATGCCTGGCTGGGA	0.547			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						16	37					0	0	0	0	T	35876315	C	T	35876315	2	4	328	1	0	0	0	0	0	0	0	1	7758	747	26	4		4	IL7R	5	35876315	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	69387	35876315	145038945	735	58949	540	2									
IL7R	3575	broad.mit.edu	37	chr5	35876316	35876316	+	Silent	SNP	C	C	T																															gagattcatccctcacatgcCtggctgggaatgtcagtgca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:35876316C>T	ENST00000303115.3	+	8	1237	c.1108C>T	c.(1108-1110)Ctg>Ttg	p.L370L	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	370					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCTCACATGCCTGGCTGGGAA	0.547			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						17	37					0	0	0	0	T	35876316	C	T	35876316	2	4	328	1	0	0	0	0	0	0	0	1	7758	680	24	4		4	IL7R	5	35876316	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	35876316	145038944	736	58950	540	2									
C5orf42	65250	broad.mit.edu	37	chr5	37107724	37107724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacaggtccagggcccagtGgacagacaggccctggtcct	8	7	13	13	0	0	1	0	0	0	1	2	2	2	2	4	5	1	0	4	5	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:37107724G>A	ENST00000274258.7	-	52	9855	c.6268C>T	c.(6268-6270)Cac>Tac	p.H2090Y	C5orf42_ENST00000425232.2_Missense_Mutation_p.H3192Y|C5orf42_ENST00000508244.1_Missense_Mutation_p.H3192Y			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	3192										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)			AGGGCCCAGTGGACAGACAGG	0.552													4	22					0	0	0	0	A	37107724	G	A	37107724	3	1	328	1	0	0	0	0	1	0	0	0	2322	1348	47	4	23	4	C5orf42	5	37107724	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1231408	37107724	143807536	737	58951											
EGFLAM	133584	broad.mit.edu	37	chr5	38370429	38370429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagaagtggacctcaatcCatgagcggatccagatggac	14	6	11	10	1	1	3	1	1	0	2	3	6	3	6	3	3	1	0	3	3	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:38370429C>T	ENST00000322350.5	+	6	923	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	EGFLAM_ENST00000354891.3_Missense_Mutation_p.H193Y	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	193	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACCTCAATCCATGAGCGGAT	0.493													20	31					0	0	0	0	T	38370429	C	T	38370429	3	4	328	1	0	0	0	0	1	0	0	0	5002	594	21	4	599	4	EGFLAM	5	38370429	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1262705	38370429	142544831	738	58952											
EGFLAM	133584	broad.mit.edu	37	chr5	38407185	38407185	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcttctgtgtcaatgacTacacctgggggggctcgcga	8	9	13	11	2	2	1	1	1	1	0	3	2	2	1	1	3	2	2	1	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:38407185T>A	ENST00000322350.5	+	8	1430	c.1084T>A	c.(1084-1086)Tac>Aac	p.Y362N	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.Y128N|EGFLAM_ENST00000354891.3_Missense_Mutation_p.Y362N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	362	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTCAATGACTACACCTGGGG	0.537													28	37					0	0	0	0	A	38407185	T	A	38407185	3	1	328	1	0	0	0	0	1	0	0	0	5002	1522	53	5	1128	5	EGFLAM	5	38407185	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	36756	38407185	142508075	739	58953											
FYB	2533	broad.mit.edu	37	chr5	39127891	39127891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcataaatgtcatcatctGgtggtggagggaatatccct	11	12	10	8	0	4	0	3	0	1	0	5	2	5	2	1	4	0	0	1	4	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:39127891G>A	ENST00000351578.6	-	11	2049	c.1859C>T	c.(1858-1860)cCa>cTa	p.P620L	FYB_ENST00000540520.1_Missense_Mutation_p.P630L|FYB_ENST00000512982.1_Missense_Mutation_p.P620L|FYB_ENST00000515010.1_Missense_Mutation_p.P620L|FYB_ENST00000505428.1_Missense_Mutation_p.P620L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	620	Poly-Pro.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GTCATCATCTGGTGGTGGAGG	0.328													6	10					0	0	0	0	A	39127891	G	A	39127891	3	1	328	1	0	0	0	0	1	0	0	0	6172	1348	47	4	666	4	FYB	5	39127891	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	720706	39127891	141787369	740	58954											
DAB2	1601	broad.mit.edu	37	chr5	39376875	39376875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcccagaagaagtctgctCtcccttccgcgcgggcacag	8	7	11	15	3	2	2	0	0	2	2	5	2	4	2	3	1	1	2	3	1	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:39376875C>T	ENST00000545653.1	-	11	2481	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	DAB2_ENST00000339788.6_Missense_Mutation_p.E454K|DAB2_ENST00000320816.6_Missense_Mutation_p.E672K|DAB2_ENST00000509337.1_Missense_Mutation_p.E651K	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	672	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GAAGTCTGCTCTCCCTTCCGC	0.488											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	26					0	0	0	0	T	39376875	C	T	39376875	3	4	328	1	0	0	0	0	1	0	0	0	4251	922	32	2	310	2	DAB2	5	39376875	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	248984	39376875	141538385	741	58955											
C7	730	broad.mit.edu	37	chr5	40976893	40976893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcctaaatgtcagcgctggGagaaactgcagaattcaaga	14	8	11	8	1	2	3	2	0	0	3	2	4	2	3	1	1	4	2	1	1	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:40976893G>A	ENST00000313164.9	+	16	2475	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	706	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TCAGCGCTGGGAGAAACTGCA	0.403													5	5					0	0	0	0	A	40976893	G	A	40976893	3	1	328	1	0	0	0	0	1	0	0	0	2398	1175	41	2	2178	2	C7	5	40976893	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1600018	40976893	139938367	742	58956											
C7	730	broad.mit.edu	37	chr5	40981622	40981622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgctctgagatgcagaGggcagagcatctctgtcacc	8	7	14	12	2	3	3	1	1	2	3	4	4	3	3	1	2	2	4	1	2	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:40981622G>A	ENST00000313164.9	+	18	2838	c.2479G>A	c.(2479-2481)Ggg>Agg	p.G827R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	827	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAGATGCAGAGGGCAGAGCAT	0.577													9	11					0	0	0	0	A	40981622	G	A	40981622	3	1	328	1	0	0	0	0	1	0	0	0	2398	1000	35	4	2549	4	C7	5	40981622	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4729	40981622	139933638	743	58957											
NNT	23530	broad.mit.edu	37	chr5	43651923	43651923	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacaactacctgtacctgctCcctgccggcacctttgttgg	6	12	8	15	1	0	0	0	0	0	0	1	0	1	0	5	2	6	4	5	2	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:43651923C>T	ENST00000264663.5	+	13	2021	c.1800C>T	c.(1798-1800)ctC>ctT	p.L600L	NNT_ENST00000344920.4_Silent_p.L600L|NNT_ENST00000512996.2_Silent_p.L469L	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	600					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGTACCTGCTCCCTGCCGGCA	0.453													56	105					0	0	0	0	T	43651923	C	T	43651923	2	4	328	1	0	0	0	0	0	0	0	1	10580	842	30	2		2	NNT	5	43651923	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2670301	43651923	137263337	744	58958											
IL6ST	3572	broad.mit.edu	37	chr5	55253116	55253116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaacttggtgctttagatGgtcctaaagaaaagacataa	17	10	9	5	0	0	4	0	0	0	4	1	4	1	4	1	2	2	1	1	2	7	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:55253116G>A	ENST00000381298.2	-	9	1289	c.977C>T	c.(976-978)cCa>cTa	p.P326L	IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.P326L|IL6ST_ENST00000381294.3_Missense_Mutation_p.P326L|IL6ST_ENST00000381287.4_Intron|IL6ST_ENST00000522633.2_Intron|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.P326L	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	326	Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGCTTTAGATGGTCCTAAAGA	0.303			O		hepatocellular ca								29	50					0	0	0	0	A	55253116	G	A	55253116	3	1	328	1	0	0	0	0	1	0	0	0	7756	1348	47	4	1815	4	IL6ST	5	55253116	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	11601193	55253116	125662144	745	58959											
ACTBL2	345651	broad.mit.edu	37	chr5	56778022	56778022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtagaatggcatgaggcagGgcataaccttcatagatggg	12	8	14	7	1	1	3	1	1	0	2	1	3	1	3	1	4	1	4	1	4	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:56778022G>A	ENST00000423391.1	-	1	614	c.513C>T	c.(511-513)gcC>gcT	p.A171A	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	171						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CATGAGGCAGGGCATAACCTT	0.547													22	53					0	0	0	0	A	56778022	G	A	56778022	2	1	328	1	0	0	0	0	0	0	0	1	194	1219	43	4		4	ACTBL2	5	56778022	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1524906	56778022	124137238	746	58960											
HTR1A	3350	broad.mit.edu	37	chr5	63256536	63256536	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcttcctctctcgggcCagggccatcttgcgcttcgc	3	12	10	16	3	3	0	0	0	3	0	7	0	4	0	3	2	1	1	3	2	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:63256536C>A	ENST00000323865.3	-	1	1244	c.1011G>T	c.(1009-1011)ctG>ctT	p.L337L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	337					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCTCTCGGGCCAGGGCCATCT	0.602													39	101					4.67007e-22	4.76855e-22	1	0	A	63256536	C	A	63256536	2	1	328	1	0	0	0	0	0	0	0	1	7489	581	21	4		4	HTR1A	5	63256536	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6478514	63256536	117658724	747	58961											
MAST4	375449	broad.mit.edu	37	chr5	66461410	66461410	+	Missense_Mutation	SNP	C	C	T																															ggcatcccagcagcatccctCcgccccctctgacggccaaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:66461410C>T	ENST00000404260.3	+	29	6720	c.6412C>T	c.(6412-6414)Ccg>Tcg	p.P2138S	MAST4_ENST00000403625.2_Missense_Mutation_p.P2135S|MAST4_ENST00000405643.1_Missense_Mutation_p.P1956S|MAST4_ENST00000403666.1_Missense_Mutation_p.P1946S|MAST4_ENST00000261569.7_Missense_Mutation_p.P1941S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2138	Pro-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAGCATCCCTCCGCCCCCTCT	0.602													6	17					0	0	0	0	T	66461410	C	T	66461410	3	4	328	1	0	0	0	0	1	0	0	0	9396	855	30	2	6647	2	MAST4	5	66461410	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3204874	66461410	114453850	748	58962	541	2									
MAST4	375449	broad.mit.edu	37	chr5	66461411	66461411	+	Missense_Mutation	SNP	C	C	T																															gcatcccagcagcatccctcCgccccctctgacggccaaag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:66461411C>T	ENST00000404260.3	+	29	6721	c.6413C>T	c.(6412-6414)cCg>cTg	p.P2138L	MAST4_ENST00000403625.2_Missense_Mutation_p.P2135L|MAST4_ENST00000405643.1_Missense_Mutation_p.P1956L|MAST4_ENST00000403666.1_Missense_Mutation_p.P1946L|MAST4_ENST00000261569.7_Missense_Mutation_p.P1941L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2138	Pro-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCATCCCTCCGCCCCCTCTG	0.602													6	17					0	0	0	0	T	66461411	C	T	66461411	3	4	328	1	0	0	0	0	1	0	0	0	9396	652	23	1	6648	1	MAST4	5	66461411	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	66461411	114453849	749	58963	541	2									
MAST4	375449	broad.mit.edu	37	chr5	66461818	66461818	+	Missense_Mutation	SNP	C	C	T																															ttggccagggagaaggtgggCcctctgtcccactgcacact																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:66461818C>T	ENST00000404260.3	+	29	7128	c.6820C>T	c.(6820-6822)Ccc>Tcc	p.P2274S	MAST4_ENST00000403625.2_Missense_Mutation_p.P2271S|MAST4_ENST00000405643.1_Missense_Mutation_p.P2092S|MAST4_ENST00000403666.1_Missense_Mutation_p.P2082S|MAST4_ENST00000261569.7_Missense_Mutation_p.P2077S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2274						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAGGTGGGCCCTCTGTCCC	0.622											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	29					0	0	0	0	T	66461818	C	T	66461818	3	4	328	1	0	0	0	0	1	0	0	0	9396	739	26	4	7055	4	MAST4	5	66461818	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	407	66461818	114453442	750	58964	542	2									
MAST4	375449	broad.mit.edu	37	chr5	66461819	66461819	+	Missense_Mutation	SNP	C	C	T																															tggccagggagaaggtgggcCctctgtcccactgcacactg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:66461819C>T	ENST00000404260.3	+	29	7129	c.6821C>T	c.(6820-6822)cCc>cTc	p.P2274L	MAST4_ENST00000403625.2_Missense_Mutation_p.P2271L|MAST4_ENST00000405643.1_Missense_Mutation_p.P2092L|MAST4_ENST00000403666.1_Missense_Mutation_p.P2082L|MAST4_ENST00000261569.7_Missense_Mutation_p.P2077L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2274						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GAAGGTGGGCCCTCTGTCCCA	0.627											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	30					0	0	0	0	T	66461819	C	T	66461819	3	4	328	1	0	0	0	0	1	0	0	0	9396	623	22	4	7056	4	MAST4	5	66461819	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	66461819	114453441	751	58965	542	2									
SLC30A5	64924	broad.mit.edu	37	chr5	68412345	68412345	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcatagctctcaatcgatCcctaggtttattaaggaatc	12	12	7	10	1	1	0	1	0	1	0	5	2	2	1	1	2	2	3	1	2	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:68412345C>T	ENST00000396591.3	+	10	1807	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	399					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTCAATCGATCCCTAGGTTTA	0.373													20	41					0	0	0	0	T	68412345	C	T	68412345	2	4	328	1	0	0	0	0	0	0	0	1	14646	845	30	2		2	SLC30A5	5	68412345	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1950526	68412345	112502915	752	58966											
MAP1B	4131	broad.mit.edu	37	chr5	71491536	71491536	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggggaaaataaaagtcaTtaagaaggaaggcaaggccg	19	4	14	4	1	1	1	1	0	0	1	1	4	1	3	1	5	0	1	1	5	9	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:71491536T>A	ENST00000296755.7	+	5	2652	c.2354T>A	c.(2353-2355)aTt>aAt	p.I785N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	785	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATAAAAGTCATTAAGAAGGAA	0.522													33	65					0	0	0	0	A	71491536	T	A	71491536	3	1	328	1	0	0	0	0	1	0	0	0	9297	1493	52	5	2372	5	MAP1B	5	71491536	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	3079191	71491536	109423724	753	58967											
PTCD2	79810	broad.mit.edu	37	chr5	71648571	71648571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgaaaagacatgtgttctCggaggaagtggtgagtatgc	11	11	15	4	1	1	3	0	2	1	1	2	5	1	5	0	3	1	2	0	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:71648571C>T	ENST00000380639.5	+	9	948	c.932C>T	c.(931-933)tCg>tTg	p.S311L	PTCD2_ENST00000536805.1_Missense_Mutation_p.S139L|PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000503868.1_Missense_Mutation_p.S202L	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	311										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		CATGTGTTCTCGGAGGAAGTG	0.333													13	15					0	0	0	0	T	71648571	C	T	71648571	3	4	328	1	0	0	0	0	1	0	0	0	12807	893	31	1	966	1	PTCD2	5	71648571	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	157035	71648571	109266689	754	58968											
ZNF366	167465	broad.mit.edu	37	chr5	71739682	71739682	+	Silent	SNP	G	G	A																															tataagtaatcagaaaaagaGgggccccgccgggtactctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:71739682G>A	ENST00000318442.5	-	5	2626	c.2136C>T	c.(2134-2136)ccC>ccT	p.P712P		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CAGAAAAAGAGGGGCCCCGCC	0.498													41	85					0	0	0	0	A	71739682	G	A	71739682	2	1	328	1	0	0	0	0	0	0	0	1	17965	987	35	4		4	ZNF366	5	71739682	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	91111	71739682	109175578	755	58969	543	2									
ZNF366	167465	broad.mit.edu	37	chr5	71739683	71739683	+	Missense_Mutation	SNP	G	G	A																															ataagtaatcagaaaaagagGggccccgccgggtactctga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:71739683G>A	ENST00000318442.5	-	5	2625	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGAAAAAGAGGGGCCCCGCCG	0.493													39	86					0	0	0	0	A	71739683	G	A	71739683	3	1	328	1	0	0	0	0	1	0	0	0	17965	1232	43	4	103	4	ZNF366	5	71739683	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	71739683	109175577	756	58970	543	2									
ZNF366	167465	broad.mit.edu	37	chr5	71757217	71757217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgtctttggggagcctttCcccgagaagccactggctgc	5	10	14	12	1	1	1	0	0	1	1	2	3	2	2	4	4	3	1	4	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:71757217C>T	ENST00000318442.5	-	2	597	c.107G>A	c.(106-108)gGa>gAa	p.G36E		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGGAGCCTTTCCCCGAGAAGC	0.567													23	39					0	0	0	0	T	71757217	C	T	71757217	3	4	328	1	0	0	0	0	1	0	0	0	17965	855	30	2	2143	2	ZNF366	5	71757217	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	17534	71757217	109158043	757	58971											
LHFPL2	10184	broad.mit.edu	37	chr5	77805826	77805826	+	Missense_Mutation	SNP	G	G	A																															ctggaagtgctgcacccctgGgttccggatgcagcgggcgt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:77805826G>A	ENST00000380345.2	-	4	886	c.211C>T	c.(211-213)Cca>Tca	p.P71S	LHFPL2_ENST00000515007.2_Missense_Mutation_p.P71S	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	71						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		TGCACCCCTGGGTTCCGGATG	0.726													12	10					0	0	0	0	A	77805826	G	A	77805826	3	1	328	1	0	0	0	0	1	0	0	0	8819	1232	43	4	483	4	LHFPL2	5	77805826	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6048609	77805826	103109434	758	58972	544	2									
LHFPL2	10184	broad.mit.edu	37	chr5	77805827	77805827	+	Silent	SNP	G	G	A																															tggaagtgctgcacccctggGttccggatgcagcgggcgta																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:77805827G>A	ENST00000380345.2	-	4	885	c.210C>T	c.(208-210)aaC>aaT	p.N70N	LHFPL2_ENST00000515007.2_Silent_p.N70N	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	70						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GCACCCCTGGGTTCCGGATGC	0.726													11	9					0	0	0	0	A	77805827	G	A	77805827	2	1	328	1	0	0	0	0	0	0	0	1	8819	1252	44	4		4	LHFPL2	5	77805827	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	77805827	103109433	759	58973	544	2									
PAPD4	167153	broad.mit.edu	37	chr5	78977832	78977832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatggaacaaatacagccaGagcagtgcacgaaaagcaga	18	4	11	8	1	0	3	0	1	0	2	0	5	0	4	1	1	6	3	1	1	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:78977832G>A	ENST00000453514.1	+	14	2021	c.1328G>A	c.(1327-1329)aGa>aAa	p.R443K	PAPD4_ENST00000428308.2_Missense_Mutation_p.R443K|PAPD4_ENST00000504233.1_Missense_Mutation_p.R400K|PAPD4_ENST00000296783.3_Missense_Mutation_p.R443K|PAPD4_ENST00000423041.2_Missense_Mutation_p.R439K	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	443					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AATACAGCCAGAGCAGTGCAC	0.313													13	19					0	0	0	0	A	78977832	G	A	78977832	3	1	328	1	0	0	0	0	1	0	0	0	11495	942	33	2	1378	2	PAPD4	5	78977832	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1172005	78977832	101937428	760	58974											
RASGRF2	5924	broad.mit.edu	37	chr5	80376019	80376019	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggcccactttaattttaGgtaagtgcattctttaaagg	11	15	8	7	0	1	0	0	0	1	0	1	0	1	0	1	3	1	2	1	3	5	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:80376019G>A	ENST00000265080.4	+	6	1034	c.967_splice	c.e6+1	p.A323_splice	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	323	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTTAATTTTAGGTAAGTGCAT	0.328													30	41					0	0	0	0	A	80376019	G	A	80376019	5	1	328	1	0	0	0	0	0	0	1	0	13155	1014	35	4	989	4	RASGRF2	5	80376019	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1398187	80376019	100539241	761	58975											
VCAN	1462	broad.mit.edu	37	chr5	82817211	82817211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacaacaaaaatcacagaggGaacaactcaggaagaattcc	21	4	7	9	0	2	2	2	0	0	2	3	4	3	4	1	2	4	0	1	2	8	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:82817211G>A	ENST00000265077.3	+	7	3651	c.3086G>A	c.(3085-3087)gGa>gAa	p.G1029E	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G981E|VCAN_ENST00000342785.4_Missense_Mutation_p.G1029E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1029	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATCACAGAGGGAACAACTCAG	0.453													17	25					0	0	0	0	A	82817211	G	A	82817211	3	1	328	1	0	0	0	0	1	0	0	0	17234	1174	41	2	3108	2	VCAN	5	82817211	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2441192	82817211	98098049	762	58976											
VCAN	1462	broad.mit.edu	37	chr5	82834652	82834652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttagagaatactcaacaGtgtctcatcccatagcaaaa	16	10	5	10	0	2	1	2	0	1	1	4	2	3	1	1	0	3	1	1	0	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:82834652G>A	ENST00000265077.3	+	8	6395	c.5830G>A	c.(5830-5832)Gtg>Atg	p.V1944M	VCAN_ENST00000343200.5_Missense_Mutation_p.V957M|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1944	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATACTCAACAGTGTCTCATCC	0.443													41	57					0	0	0	0	A	82834652	G	A	82834652	3	1	328	1	0	0	0	0	1	0	0	0	17234	1029	36	4	5856	4	VCAN	5	82834652	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	17441	82834652	98080608	763	58977											
VCAN	1462	broad.mit.edu	37	chr5	82836302	82836302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgctgcctcttcattcaGagcagaacaaaagctcccct	11	10	7	13	0	3	3	2	1	1	2	4	3	4	3	3	0	5	3	3	0	3	2	rs147255921	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:82836302G>A	ENST00000265077.3	+	8	8045	c.7480G>A	c.(7480-7482)Gag>Aag	p.E2494K	VCAN_ENST00000343200.5_Missense_Mutation_p.E1507K|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2494	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCTTCATTCAGAGCAGAACAA	0.473													26	38					0	0	0	0	A	82836302	G	A	82836302	3	1	328	1	0	0	0	0	1	0	0	0	17234	943	33	2	7506	2	VCAN	5	82836302	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1650	82836302	98078958	764	58978											
VCAN	1462	broad.mit.edu	37	chr5	82836515	82836515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacagagagtaccatccttGaaattctacctgagctgaca	13	11	7	10	0	1	4	0	3	1	1	2	5	2	4	3	0	4	2	3	0	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:82836515G>A	ENST00000265077.3	+	8	8258	c.7693G>A	c.(7693-7695)Gaa>Aaa	p.E2565K	VCAN_ENST00000343200.5_Missense_Mutation_p.E1578K|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2565	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TACCATCCTTGAAATTCTACC	0.328													30	42					0	0	0	0	A	82836515	G	A	82836515	3	1	328	1	0	0	0	0	1	0	0	0	17234	1291	45	2	7719	2	VCAN	5	82836515	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	213	82836515	98078745	765	58979											
GPR98	84059	broad.mit.edu	37	chr5	89949315	89949315	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttttactggttggaattttCcccaccaccgtgcatttaca	8	16	6	11	1	0	0	0	0	0	0	1	1	1	1	4	2	3	2	4	2	3	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:89949315C>T	ENST00000405460.2	+	20	4020	c.3924C>T	c.(3922-3924)ttC>ttT	p.F1308F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1308					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGAATTTTCCCCACCACCG	0.483													10	14					0	0	0	0	T	89949315	C	T	89949315	2	4	328	1	0	0	0	0	0	0	0	1	6771	854	30	2		2	GPR98	5	89949315	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7112800	89949315	90965945	766	58980											
GPR98	84059	broad.mit.edu	37	chr5	90024571	90024571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgtggccttgttcaacaaggGaggctctgtgttcttagcca	7	12	12	10	1	3	0	1	0	2	0	3	1	3	1	2	3	2	3	2	3	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:90024571G>A	ENST00000405460.2	+	49	10343	c.10247G>A	c.(10246-10248)gGa>gAa	p.G3416E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3416					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCAACAAGGGAGGCTCTGTG	0.488													45	74					0	0	0	0	A	90024571	G	A	90024571	3	1	328	1	0	0	0	0	1	0	0	0	6771	1174	41	2	10441	2	GPR98	5	90024571	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	75256	90024571	90890689	767	58981											
GPR98	84059	broad.mit.edu	37	chr5	90106721	90106721	+	Missense_Mutation	SNP	C	C	T																															cactgtaactgccaatgtttCcattcatggaacattcagcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:90106721C>T	ENST00000405460.2	+	74	15740	c.15644C>T	c.(15643-15645)tCc>tTc	p.S5215F	GPR98_ENST00000425867.2_Missense_Mutation_p.S876F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5215					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S5215F(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCAATGTTTCCATTCATGGA	0.458													28	39					0	0	0	0	T	90106721	C	T	90106721	3	4	328	1	0	0	0	0	1	0	0	0	6771	855	30	2	15938	2	GPR98	5	90106721	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	82150	90106721	90808539	768	58982	545	2									
GPR98	84059	broad.mit.edu	37	chr5	90106722	90106722	+	Silent	SNP	C	C	T																															actgtaactgccaatgtttcCattcatggaacattcagcct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:90106722C>T	ENST00000405460.2	+	74	15741	c.15645C>T	c.(15643-15645)tcC>tcT	p.S5215S	GPR98_ENST00000425867.2_Silent_p.S876S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5215					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAATGTTTCCATTCATGGAA	0.458													27	39					0	0	0	0	T	90106722	C	T	90106722	2	4	328	1	0	0	0	0	0	0	0	1	6771	581	21	4		4	GPR98	5	90106722	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	90106722	90808538	769	58983	545	2									
GPR98	84059	broad.mit.edu	37	chr5	90445960	90445960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacccagcacagcctttttCacgcccgggagtggaatgcc	8	7	12	14	2	1	0	1	0	0	0	1	3	1	3	4	3	3	1	4	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:90445960C>T	ENST00000405460.2	+	88	18642	c.18546C>T	c.(18544-18546)ttC>ttT	p.F6182F	GPR98_ENST00000425867.2_Silent_p.F1843F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6182					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGCCTTTTTCACGCCCGGGA	0.507													3	9					0	0	0	0	T	90445960	C	T	90445960	2	4	328	1	0	0	0	0	0	0	0	1	6771	825	29	2		2	GPR98	5	90445960	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	339238	90445960	90469300	770	58984											
MCTP1	79772	broad.mit.edu	37	chr5	94204083	94204083	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgaatcccaatcaaagcaActattaacgtagtatgcagc	15	9	8	9	1	1	1	1	1	0	0	2	1	2	1	1	1	5	4	1	1	8	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:94204083A>G	ENST00000515393.1	-	17	2390	c.2391T>C	c.(2389-2391)agT>agC	p.S797S	MCTP1_ENST00000505208.1_Silent_p.S576S|MCTP1_ENST00000429576.2_Silent_p.S530S|MCTP1_ENST00000505078.1_Silent_p.S313S|MCTP1_ENST00000312216.8_Silent_p.S576S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	797					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AATCAAAGCAACTATTAACGT	0.348													15	13					0	0	0	0	G	94204083	A	G	94204083	2	3	328	1	0	0	0	0	0	0	0	1	9469	40	2	5		5	MCTP1	5	94204083	Silent	SNP	A	TCGA-CV-7568-01A-11D-2229-08	3758123	94204083	86711177	771	58985											
SLCO6A1	133482	broad.mit.edu	37	chr5	101748743	101748743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaccctgcaaagcagggaGaaaaatattcaatatcatct	17	9	6	9	0	3	1	2	0	1	1	3	2	3	1	1	1	3	2	1	1	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:101748743G>T	ENST00000506729.1	-	9	1748	c.1577C>A	c.(1576-1578)tCt>tAt	p.S526Y	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S464Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S273Y|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S526Y|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S273Y			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	526	Kazal-like.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAAGCAGGGAGAAAAATATTC	0.299													13	21					4.36969e-10	4.41062e-10	1	0	T	101748743	G	T	101748743	3	4	328	1	0	0	0	0	1	0	0	0	14820	942	33	2	602	2	SLCO6A1	5	101748743	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7544660	101748743	79166517	772	58986											
PPIP5K2	23262	broad.mit.edu	37	chr5	102530646	102530646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataatgagaaaaaaagtatCtttaaatacgtatacacctg	20	11	5	5	1	1	1	0	1	1	1	1	2	1	1	1	0	2	2	1	0	11	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:102530646C>T	ENST00000321521.9	+	29	4049	c.3476C>T	c.(3475-3477)tCt>tTt	p.S1159F	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.S1180F|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S1159F			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1180					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAAAAAGTATCTTTAAATACG	0.368													12	16					0	0	0	0	T	102530646	C	T	102530646	3	4	328	1	0	0	0	0	1	0	0	0	12409	913	32	2	3586	2	PPIP5K2	5	102530646	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	781903	102530646	78384614	773	58987											
APC	324	broad.mit.edu	37	chr5	112175429	112175429	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacactatgttcaggagAccccactcatgtttagcaga	12	10	8	11	0	2	3	2	1	0	2	2	4	2	3	2	1	2	3	2	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:112175429A>C	ENST00000457016.1	+	16	4518	c.4138A>C	c.(4138-4140)Acc>Ccc	p.T1380P	APC_ENST00000257430.4_Missense_Mutation_p.T1380P|APC_ENST00000508376.2_Missense_Mutation_p.T1380P|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1380	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.L1382fs*4(2)|p.?(1)|p.Q1378fs*5(1)|p.T1380fs*6(1)|p.K1192fs*3(1)|p.T1380fs*5(1)|p.Y1376fs*41(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGTTCAGGAGACCCCACTCAT	0.468		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			24	59					0	0	0	0	C	112175429	A	C	112175429	3	2	328	1	0	0	0	0	1	0	0	0	764	275	10	5	4196	5	APC	5	112175429	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	9644783	112175429	68739831	774	58988											
APC	324	broad.mit.edu	37	chr5	112177570	112177570	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gattcagaacatggtctatcCcctgattcagaaaattttga	13	13	7	8	0	3	4	2	2	1	2	4	5	4	4	2	1	1	0	2	1	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:112177570C>T	ENST00000457016.1	+	16	6659	c.6279C>T	c.(6277-6279)tcC>tcT	p.S2093S	APC_ENST00000257430.4_Silent_p.S2093S|APC_ENST00000508376.2_Silent_p.S2093S|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2093	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATGGTCTATCCCCTGATTCAG	0.378		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			34	65					0	0	0	0	T	112177570	C	T	112177570	2	4	328	1	0	0	0	0	0	0	0	1	764	610	22	4		4	APC	5	112177570	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2141	112177570	68737690	775	58989											
KCNN2	3781	broad.mit.edu	37	chr5	113822857	113822857	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaaaacatcaacgaaaattCctgcaagctattcatcagta	18	9	5	9	1	3	1	3	0	0	1	4	2	4	1	1	0	4	3	1	0	8	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:113822857C>T	ENST00000512097.3	+	7	2383	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	KCNN2_ENST00000264773.3_Silent_p.F455F|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_Silent_p.F107F			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	455	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AACGAAAATTCCTGCAAGCTA	0.328													23	43					0	0	0	0	T	113822857	C	T	113822857	2	4	328	1	0	0	0	0	0	0	0	1	8132	854	30	2		2	KCNN2	5	113822857	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1645287	113822857	67092403	776	58990											
DMXL1	1657	broad.mit.edu	37	chr5	118510990	118510990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactttagcagcttcactttCtgcttgtatttatcagtgcc	7	18	6	10	0	3	0	2	0	1	0	3	0	3	0	1	0	5	4	1	0	4	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:118510990C>T	ENST00000311085.8	+	26	6796	c.6716C>T	c.(6715-6717)tCt>tTt	p.S2239F	DMXL1_ENST00000539542.1_Missense_Mutation_p.S2239F	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2239										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCTTCACTTTCTGCTTGTATT	0.303													22	18					0	0	0	0	T	118510990	C	T	118510990	3	4	328	1	0	0	0	0	1	0	0	0	4631	913	32	2	6818	2	DMXL1	5	118510990	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4688133	118510990	62404270	777	58991											
HSD17B4	3295	broad.mit.edu	37	chr5	118809645	118809645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaaggagttggtaaaggctCcttagctgctgataaggttg	11	11	13	6	0	0	1	0	1	0	0	1	2	1	2	1	4	2	6	1	4	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:118809645C>T	ENST00000504811.1	+	4	414	c.230C>T	c.(229-231)tCc>tTc	p.S77F	HSD17B4_ENST00000510025.1_Missense_Mutation_p.S28F|HSD17B4_ENST00000414835.2_5'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.S34F|HSD17B4_ENST00000256216.6_Missense_Mutation_p.S52F	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	52	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GGTAAAGGCTCCTTAGCTGCT	0.363													7	19					0	0	0	0	T	118809645	C	T	118809645	3	4	328	1	0	0	0	0	1	0	0	0	7436	855	30	2	165	2	HSD17B4	5	118809645	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	298655	118809645	62105615	778	58992											
PRR16	51334	broad.mit.edu	37	chr5	120021865	120021865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccaaaccctccaccacctCctccaaggttgacacctgtg	10	7	6	18	0	0	1	0	1	0	0	3	1	3	1	8	1	2	1	8	1	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:120021865C>T	ENST00000379551.2	+	3	664	c.307C>T	c.(307-309)Cct>Tct	p.P103S	PRR16_ENST00000505123.1_Missense_Mutation_p.P56S|PRR16_ENST00000407149.2_Missense_Mutation_p.P126S|PRR16_ENST00000446965.1_Missense_Mutation_p.P56S	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	126	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCCACCACCTCCTCCAAGGTT	0.512													36	49					0	0	0	0	T	120021865	C	T	120021865	3	4	328	1	0	0	0	0	1	0	0	0	12669	855	30	2	313	2	PRR16	5	120021865	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1212220	120021865	60893395	779	58993											
FNIP1	96459	broad.mit.edu	37	chr5	131080314	131080314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagtcaaacaaaacatttctCcctcgtctttcacagtcttg	11	13	5	12	1	5	0	2	0	3	0	7	1	5	0	1	0	2	0	1	0	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:131080314C>T	ENST00000514667.1	-	2	223	c.162G>A	c.(160-162)ggG>ggA	p.G54G	FNIP1_ENST00000510461.1_Silent_p.G54G|FNIP1_ENST00000307968.7_Silent_p.G54G|FNIP1_ENST00000307954.8_Silent_p.G54G|FNIP1_ENST00000511848.1_Silent_p.G54G					folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		AAACATTTCTCCCTCGTCTTT	0.363													21	37					0	0	0	0	T	131080314	C	T	131080314	2	4	328	1	0	0	0	0	0	0	0	1	6020	842	30	2		2	FNIP1	5	131080314	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	11058449	131080314	49834946	780	58994											
IRF1	3659	broad.mit.edu	37	chr5	131822063	131822063	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacagcacatggcgacaGtgctggggaacagcagaagc	12	4	15	10	1	0	2	0	1	0	1	0	4	0	3	0	3	5	4	0	3	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:131822063G>A	ENST00000245414.4	-	7	805	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	IRF1_ENST00000405885.2_Silent_p.L183L	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	183					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CATGGCGACAGTGCTGGGGAA	0.572													18	53					0	0	0	0	A	131822063	G	A	131822063	2	1	328	1	0	0	0	0	0	0	0	1	7880	1020	36	4		4	IRF1	5	131822063	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	741749	131822063	49093197	781	58995											
SEPT8	23176	broad.mit.edu	37	chr5	132098220	132098220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacagcctcatcatccgtggGgaactggtagatctggaccc	10	8	11	12	1	3	1	2	0	1	1	4	3	4	3	3	4	3	1	3	4	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:132098220G>A	ENST00000296873.7	-	5	935	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	SEPT8_ENST00000378706.1_Missense_Mutation_p.P218S|SEPT8_ENST00000378701.1_Missense_Mutation_p.P216S|SEPT8_ENST00000378721.4_Missense_Mutation_p.P216S|SEPT8_ENST00000378699.2_Missense_Mutation_p.P158S|SEPT8_ENST00000378719.2_Missense_Mutation_p.P218S|SEPT8_ENST00000448933.1_Missense_Mutation_p.P158S|SEPT8_ENST00000458488.2_Missense_Mutation_p.P218S	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	218					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATCCGTGGGGAACTGGTAG	0.582													17	44					0	0	0	0	A	132098220	G	A	132098220	3	1	328	1	0	0	0	0	1	0	0	0	14157	1232	43	4	878	4	SEPT8	5	132098220	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	276157	132098220	48817040	782	58996											
SEC24A	10802	broad.mit.edu	37	chr5	134015380	134015380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagctttcttgatcaaaGgagatggaagtgtaacttat	12	13	10	6	1	3	2	2	1	1	1	3	4	3	3	0	2	2	2	0	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:134015380G>A	ENST00000398844.2	+	8	1631	c.1343G>A	c.(1342-1344)aGg>aAg	p.R448K	SEC24A_ENST00000322887.4_Missense_Mutation_p.R448K	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	448	Zinc finger-like.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTGATCAAAGGAGATGGAAG	0.388													33	59					0	0	0	0	A	134015380	G	A	134015380	3	1	328	1	0	0	0	0	1	0	0	0	14081	1000	35	4	1373	4	SEC24A	5	134015380	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1917160	134015380	46899880	783	58997											
DDX46	9879	broad.mit.edu	37	chr5	134153240	134153240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggtggcaccattctggctCccactgtttctgcaaaaacc	8	10	10	13	0	2	0	0	0	2	0	3	0	3	0	3	4	2	4	3	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:134153240C>T	ENST00000452510.2	+	20	2826	c.2668C>T	c.(2668-2670)Ccc>Tcc	p.P890S	DDX46_ENST00000354283.4_Missense_Mutation_p.P889S	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	889					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATTCTGGCTCCCACTGTTTC	0.438													12	26					0	0	0	0	T	134153240	C	T	134153240	3	4	328	1	0	0	0	0	1	0	0	0	4396	855	30	2	2743	2	DDX46	5	134153240	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	137860	134153240	46762020	784	58998											
TRPC7	57113	broad.mit.edu	37	chr5	135651434	135651434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcacgcccactacaaaatCcttgcattgcatagataact	14	9	5	13	1	0	1	0	0	0	1	1	1	1	1	2	0	5	3	2	0	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:135651434C>T	ENST00000513104.1	-	3	1096	c.814G>A	c.(814-816)Gat>Aat	p.D272N	TRPC7_ENST00000426057.2_Intron|TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000355180.3_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	272					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTACAAAATCCTTGCATTGC	0.493													6	22					0	0	0	0	T	135651434	C	T	135651434	3	4	328	1	0	0	0	0	1	0	0	0	16679	855	30	2	1814	2	TRPC7	5	135651434	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1498194	135651434	45263826	785	58999											
TRPC7	57113	broad.mit.edu	37	chr5	135692539	135692539	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgagcagcaggatgtgcacGatctcatactcctggcagtg	9	10	12	10	1	1	1	1	1	1	0	3	3	2	2	1	2	4	4	1	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:135692539G>A	ENST00000513104.1	-	2	819	c.537C>T	c.(535-537)atC>atT	p.I179I	TRPC7_ENST00000426057.2_Silent_p.I179I|TRPC7_ENST00000355180.3_Silent_p.I179I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	179					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGATGTGCACGATCTCATACT	0.607													67	88					0	0	0	0	A	135692539	G	A	135692539	2	1	328	1	0	0	0	0	0	0	0	1	16679	1048	37	1		1	TRPC7	5	135692539	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	41105	135692539	45222721	786	59000											
FAM13B	51306	broad.mit.edu	37	chr5	137354760	137354760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atattttgttagcaagaacgGagttgcagttactcaaggaa	14	12	10	5	1	1	1	1	0	0	1	1	3	1	3	0	2	4	5	0	2	7	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:137354760G>A	ENST00000033079.3	-	3	492	c.41C>T	c.(40-42)tCc>tTc	p.S14F	FAM13B_ENST00000420893.2_Missense_Mutation_p.S14F|FAM13B_ENST00000425075.2_Intron	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	14					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AGCAAGAACGGAGTTGCAGTT	0.433													34	57					0	0	0	0	A	137354760	G	A	137354760	3	1	328	1	0	0	0	0	1	0	0	0	5494	1174	41	2	2860	2	FAM13B	5	137354760	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1662221	137354760	43560500	787	59001											
BRD8	10902	broad.mit.edu	37	chr5	137500054	137500054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgcctctaaaggatcttCaatgggatttgagccatgtg	9	13	10	9	0	4	1	1	1	3	0	4	3	4	3	2	2	2	0	2	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:137500054C>T	ENST00000254900.5	-	13	2151	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	BRD8_ENST00000230901.5_Missense_Mutation_p.E667K|BRD8_ENST00000455658.2_Missense_Mutation_p.E553K|BRD8_ENST00000402931.1_Missense_Mutation_p.E594K|BRD8_ENST00000411594.2_Missense_Mutation_p.E597K|BRD8_ENST00000515014.1_5'UTR	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	594					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAAGGATCTTCAATGGGATTT	0.413													35	72					0	0	0	0	T	137500054	C	T	137500054	3	4	328	1	0	0	0	0	1	0	0	0	1514	835	29	2	2051	2	BRD8	5	137500054	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	145294	137500054	43415206	788	59002											
FAM53C	51307	broad.mit.edu	37	chr5	137680634	137680634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accacccagtcggggaaactCccccaaggagcagcccttct	10	5	9	17	1	1	0	0	0	1	0	3	2	2	2	5	3	3	1	5	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:137680634C>T	ENST00000239906.5	+	4	685	c.257C>T	c.(256-258)tCc>tTc	p.S86F	FAM53C_ENST00000434981.2_Missense_Mutation_p.S86F|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	86										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGGGGAAACTCCCCCAAGGAG	0.622													43	61					0	0	0	0	T	137680634	C	T	137680634	3	4	328	1	0	0	0	0	1	0	0	0	5628	855	30	2	267	2	FAM53C	5	137680634	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	180580	137680634	43234626	789	59003											
PCDHA3	56145	broad.mit.edu	37	chr5	140183220	140183220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaaaatgtctttgtttttCattcctcaatgtttccactc	8	19	3	11	0	3	0	2	0	1	0	7	0	6	0	3	0	0	2	3	0	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140183220C>T	ENST00000532566.2	+	1	2438	c.2438C>T	c.(2437-2439)tCa>tTa	p.S813L	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_031497.1	NP_113685.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTTTTTCATTCCTCAAT	0.338													11	25					0	0	0	0	T	140183220	C	T	140183220	3	4	328	1	0	0	0	0	1	0	0	0	11596	838	29	2	2440	2	PCDHA3	5	140183220	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2502586	140183220	40732040	790	59004											
PCDHA4	56144	broad.mit.edu	37	chr5	140186794	140186794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagttttcctggggaagcGgccaggaatcccggcgtctg	6	9	16	10	3	1	0	0	0	1	0	3	3	3	3	3	6	1	1	3	6	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140186794G>C	ENST00000530339.1	+	1	22	c.22G>C	c.(22-24)Ggc>Cgc	p.G8R	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G8R|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G8R|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGAAGCGGCCAGGAATC	0.502													43	72					0	0	0	0	C	140186794	G	C	140186794	3	2	328	1	0	0	0	0	1	0	0	0	11597	1116	39	3	24	3	PCDHA4	5	140186794	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3574	140186794	40728466	791	59005											
PCDHA6	56142	broad.mit.edu	37	chr5	140209543	140209543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcgctcgcttcccgtttCgcgtggggctgtacacgggc	3	9	15	14	6	0	0	0	0	0	0	3	0	1	0	1	3	2	6	1	3	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140209543C>T	ENST00000529310.1	+	1	1981	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCCGTTTCGCGTGGGGCT	0.652													40	56					0	0	0	0	T	140209543	C	T	140209543	3	4	328	1	0	0	0	0	1	0	0	0	11599	884	31	1	1869	1	PCDHA6	5	140209543	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	22749	140209543	40705717	792	59006											
PCDHA7	56141	broad.mit.edu	37	chr5	140215889	140215889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacgagccctagatgagacgGacgcaccgcgccaccgcctt	9	4	11	17	6	0	2	0	1	0	2	0	5	0	3	5	1	1	1	5	1	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140215889G>A	ENST00000525929.1	+	1	1921	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.D641N	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGAGACGGACGCACCGCG	0.652													38	53					0	0	0	0	A	140215889	G	A	140215889	3	1	328	1	0	0	0	0	1	0	0	0	11600	1174	41	2	1923	2	PCDHA7	5	140215889	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6346	140215889	40699371	793	59007											
PCDHA8	56140	broad.mit.edu	37	chr5	140223143	140223143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgtgctccagtgcggtggGgagctggtcatactcgcaac	6	9	16	10	2	1	0	1	0	0	0	3	1	2	1	1	5	5	3	1	5	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140223143G>A	ENST00000531613.1	+	1	2237	c.2237G>A	c.(2236-2238)gGg>gAg	p.G746E	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.G746E	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCGGTGGGGAGCTGGTCA	0.662													15	31					0	0	0	0	A	140223143	G	A	140223143	3	1	328	1	0	0	0	0	1	0	0	0	11601	1232	43	4	2239	4	PCDHA8	5	140223143	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7254	140223143	40692117	794	59008											
PCDHA8	56140	broad.mit.edu	37	chr5	140223235	140223235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggccttcagcccctgccttCctcctgatctgggatcagtt	4	13	9	15	0	3	1	2	1	1	0	5	2	5	2	6	2	2	1	6	2	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140223235C>T	ENST00000531613.1	+	1	2329	c.2329C>T	c.(2329-2331)Cct>Tct	p.P777S	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P777S	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTGCCTTCCTCCTGATCT	0.502													19	32					0	0	0	0	T	140223235	C	T	140223235	3	4	328	1	0	0	0	0	1	0	0	0	11601	855	30	2	2331	2	PCDHA8	5	140223235	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	92	140223235	40692025	795	59009											
PCDHA9	9752	broad.mit.edu	37	chr5	140229624	140229624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcagtgcacgcggagagcgGcaaggtgtacgcgctgcagc	8	5	17	11	5	1	1	1	0	0	1	1	2	1	1	0	3	5	5	0	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140229624G>A	ENST00000378122.3	+	1	2268	c.1544G>A	c.(1543-1545)gGc>gAc	p.G515D	PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.G515D|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGAGCGGCAAGGTGTAC	0.692													62	104					0	0	0	0	A	140229624	G	A	140229624	3	1	328	1	0	0	0	0	1	0	0	0	11602	1203	42	4	1546	4	PCDHA9	5	140229624	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6389	140229624	40685636	796	59010											
PCDHA12	56137	broad.mit.edu	37	chr5	140257124	140257124	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgggcgctgtggatccCgaagcggctctggtggatat	6	10	16	9	3	2	0	1	0	1	0	3	3	3	2	1	5	1	2	1	5	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140257124C>T	ENST00000398631.2	+	1	2067	c.2067C>T	c.(2065-2067)ccC>ccT	p.P689P	PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGATCCCGAAGCGGCTC	0.647													25	40					0	0	0	0	T	140257124	C	T	140257124	2	4	328	1	0	0	0	0	0	0	0	1	11593	639	23	1		1	PCDHA12	5	140257124	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	27500	140257124	40658136	797	59011											
PCDHA13	56136	broad.mit.edu	37	chr5	140263101	140263101	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagcgccctggaccgcgaGagcgtatcagcctatgaact	10	6	12	13	4	1	2	1	1	0	1	1	5	1	3	3	1	4	1	3	1	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140263101G>A	ENST00000289272.2	+	1	1248	c.1248G>A	c.(1246-1248)gaG>gaA	p.E416E	PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.E416E|PCDHA6_ENST00000529310.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCGCGAGAGCGTATCAG	0.642													73	135					0	0	0	0	A	140263101	G	A	140263101	2	1	328	1	0	0	0	0	0	0	0	1	11594	933	33	2		2	PCDHA13	5	140263101	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5977	140263101	40652159	798	59012											
PCDHA13	56136	broad.mit.edu	37	chr5	140263184	140263184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacggccagcgtgtcggtggGggtggccgacgtgaacgaca	7	5	18	11	6	0	1	0	1	0	0	1	3	0	1	2	5	2	0	2	5	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140263184G>A	ENST00000289272.2	+	1	1331	c.1331G>A	c.(1330-1332)gGg>gAg	p.G444E	PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G444E|PCDHA6_ENST00000529310.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCGGTGGGGGTGGCCGAC	0.677													65	100					0	0	0	0	A	140263184	G	A	140263184	3	1	328	1	0	0	0	0	1	0	0	0	11594	1232	43	4	1333	4	PCDHA13	5	140263184	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	83	140263184	40652076	799	59013											
PCDHB3	56132	broad.mit.edu	37	chr5	140481617	140481617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctacaccctgttcgtccgcGagaacaacagccccgccctg	8	6	8	19	4	0	1	0	0	0	1	2	2	1	1	6	0	4	1	6	0	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140481617G>A	ENST00000231130.2	+	1	1384	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		462	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.E462K(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTCCGCGAGAACAACAG	0.602													50	111					0	0	0	0	A	140481617	G	A	140481617	3	1	328	1	0	0	0	0	1	0	0	0	11614	1059	37	1	1386	1	PCDHB3	5	140481617	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	218433	140481617	40433643	800	59014											
PCDHB4	56131	broad.mit.edu	37	chr5	140501985	140501985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctccaatattccctgaaagGgaagtgctcttgaaaatact	13	12	7	9	0	2	2	0	2	2	0	4	3	3	3	2	1	2	1	2	1	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140501985G>A	ENST00000194152.1	+	1	405	c.405G>A	c.(403-405)agG>agA	p.R135R		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		135					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCTGAAAGGGAAGTGCTCT	0.408													32	53					0	0	0	0	A	140501985	G	A	140501985	2	1	328	1	0	0	0	0	0	0	0	1	11615	1223	43	4		4	PCDHB4	5	140501985	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	20368	140501985	40413275	801	59015											
PCDHB4	56131	broad.mit.edu	37	chr5	140502771	140502771	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attctaaaaccaactttgaaGaatttttacaccctggtaac	15	13	4	9	0	1	2	0	1	1	1	1	2	1	2	2	1	4	1	2	1	7	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140502771G>A	ENST00000194152.1	+	1	1191	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		397	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACTTTGAAGAATTTTTACA	0.448													25	39					0	0	0	0	A	140502771	G	A	140502771	2	1	328	1	0	0	0	0	0	0	0	1	11615	933	33	2		2	PCDHB4	5	140502771	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	786	140502771	40412489	802	59016											
PCDHB5	26167	broad.mit.edu	37	chr5	140515221	140515221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgcgcgaatgcattacAaaggaaacaaagagctcttg	14	6	13	8	3	1	1	0	0	1	1	1	3	1	2	0	3	4	2	0	3	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140515221A>G	ENST00000231134.5	+	1	422	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		69	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGCATTACAAAGGAAACAA	0.517													49	70					0	0	0	0	G	140515221	A	G	140515221	3	3	328	1	0	0	0	0	1	0	0	0	11616	131	5	5	207	5	PCDHB5	5	140515221	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	12450	140515221	40400039	803	59017											
PCDHB5	26167	broad.mit.edu	37	chr5	140517377	140517377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatagggaaaactgctgcCttccggaatagctttggatt	12	11	11	7	1	0	0	0	0	0	0	1	4	1	3	2	3	4	2	2	3	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140517377C>T	ENST00000231134.5	+	1	2578	c.2361C>T	c.(2359-2361)gcC>gcT	p.A787A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		787					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACTGCTGCCTTCCGGAATA	0.468													39	81					0	0	0	0	T	140517377	C	T	140517377	2	4	328	1	0	0	0	0	0	0	0	1	11616	668	24	4		4	PCDHB5	5	140517377	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2156	140517377	40397883	804	59018											
PCDHB16	57717	broad.mit.edu	37	chr5	140564270	140564270	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcctgttcgtggcggtgcgGctgtgcaggaggagcagggc	4	8	19	10	3	0	0	0	0	0	0	2	2	1	2	1	6	3	4	1	6	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140564270G>A	ENST00000361016.2	+	1	3291	c.2136G>A	c.(2134-2136)cgG>cgA	p.R712R		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		712					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGGTGCGGCTGTGCAGGA	0.677													85	123					0	0	0	0	A	140564270	G	A	140564270	2	1	328	1	0	0	0	0	0	0	0	1	11612	1190	42	4		4	PCDHB16	5	140564270	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	46893	140564270	40350990	805	59019											
PCDHB10	56126	broad.mit.edu	37	chr5	140573628	140573628	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccgcacctgcccctcgcCtccctggtctccatcaacgc	5	7	7	22	3	2	0	1	0	1	0	5	1	3	0	7	1	2	1	7	1	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140573628C>A	ENST00000239446.4	+	1	1687	c.1503C>A	c.(1501-1503)gcC>gcA	p.A501A		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		501	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCCCTCGCCTCCCTGGTCT	0.677													92	141					1.76565e-42	1.80786e-42	1	0	A	140573628	C	A	140573628	2	1	328	1	0	0	0	0	0	0	0	1	11606	668	24	4		4	PCDHB10	5	140573628	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	9358	140573628	40341632	806	59020											
PCDHB11	56125	broad.mit.edu	37	chr5	140580862	140580862	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcgcctccctggtctcCatcaacacagacaacggcca	9	6	6	20	2	2	1	1	0	1	1	5	1	3	1	6	2	2	0	6	2	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140580862C>T	ENST00000354757.3	+	1	1515	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	PCDHB11_ENST00000536699.1_Silent_p.S140S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		505	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGGTCTCCATCAACACAG	0.657													75	133					0	0	0	0	T	140580862	C	T	140580862	2	4	328	1	0	0	0	0	0	0	0	1	11607	581	21	4		4	PCDHB11	5	140580862	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7234	140580862	40334398	807	59021											
PCDHB12	56124	broad.mit.edu	37	chr5	140589607	140589607	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atacgagacagagactctggGgacaacggaaagatggtttg	14	7	14	6	2	1	3	0	0	1	3	1	7	1	5	0	4	2	1	0	4	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140589607G>A	ENST00000239450.2	+	1	1317	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	PCDHB12_ENST00000541609.1_Silent_p.G39G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		376	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGACTCTGGGGACAACGGAA	0.453													28	35					0	0	0	0	A	140589607	G	A	140589607	2	1	328	1	0	0	0	0	0	0	0	1	11608	1219	43	4		4	PCDHB12	5	140589607	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	8745	140589607	40325653	808	59022											
PCDHB12	56124	broad.mit.edu	37	chr5	140590801	140590801	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaccaattatccccaacttCctaccccagagcacaggtag	14	7	5	15	0	0	1	0	0	0	1	2	1	2	1	6	1	4	2	6	1	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140590801C>T	ENST00000239450.2	+	1	2511	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	PCDHB12_ENST00000541609.1_Silent_p.F437F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		774					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCCTACCCCAGA	0.428													40	40					0	0	0	0	T	140590801	C	T	140590801	2	4	328	1	0	0	0	0	0	0	0	1	11608	854	30	2		2	PCDHB12	5	140590801	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1194	140590801	40324459	809	59023											
PCDHB13	56123	broad.mit.edu	37	chr5	140594901	140594901	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccgcggaaaacttttacacCctactaacggagagaccact	13	8	7	13	3	0	1	0	0	0	1	1	4	1	3	3	2	4	0	3	2	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140594901C>T	ENST00000341948.4	+	1	1393	c.1206C>T	c.(1204-1206)acC>acT	p.T402T		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		402	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTTTACACCCTACTAACGG	0.453													34	57					0	0	0	0	T	140594901	C	T	140594901	2	4	328	1	0	0	0	0	0	0	0	1	11609	610	22	4		4	PCDHB13	5	140594901	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4100	140594901	40320359	810	59024											
PCDHB14	56122	broad.mit.edu	37	chr5	140605029	140605029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggacaatggcgagcctcCtcgctcggccaccgccacgc	8	4	11	18	5	0	0	0	0	0	0	3	2	1	1	5	3	1	1	5	3	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140605029C>T	ENST00000239449.4	+	1	1952	c.1952C>T	c.(1951-1953)cCt>cTt	p.P651L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P498L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		651	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGCCTCCTCGCTCGGCC	0.726													21	17					0	0	0	0	T	140605029	C	T	140605029	3	4	328	1	0	0	0	0	1	0	0	0	11610	681	24	4	1954	4	PCDHB14	5	140605029	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	10128	140605029	40310231	811	59025											
PCDHGA2	56113	broad.mit.edu	37	chr5	140718777	140718777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctctttgctctgaacccgcGaagcggcagcttggtcactg	6	10	12	13	3	3	1	1	1	2	0	3	2	3	1	1	2	4	4	1	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140718777G>A	ENST00000394576.2	+	1	239	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGAAGCGGCAGC	0.572													28	69					0	0	0	0	A	140718777	G	A	140718777	3	1	328	1	0	0	0	0	1	0	0	0	11625	1058	37	1	241	1	PCDHGA2	5	140718777	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	113748	140718777	40196483	812	59026											
PCDHGA2	56113	broad.mit.edu	37	chr5	140718947	140718947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccctcgctttggagtagagGaactggagctaaaaatcagt	12	9	11	9	1	1	1	1	0	0	1	2	4	1	4	2	3	2	3	2	3	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140718947G>A	ENST00000394576.2	+	1	409	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGTAGAGGAACTGGAGCT	0.418													30	49					0	0	0	0	A	140718947	G	A	140718947	3	1	328	1	0	0	0	0	1	0	0	0	11625	1175	41	2	411	2	PCDHGA2	5	140718947	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	170	140718947	40196313	813	59027											
PCDHGB2	56103	broad.mit.edu	37	chr5	140740139	140740139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaaattggcgaatccaCtaagccaggtacaacatttc	15	11	6	9	1	0	0	0	0	0	0	2	1	1	0	2	2	3	1	2	2	7	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140740139C>T	ENST00000522605.1	+	1	437	c.437C>T	c.(436-438)aCt>aTt	p.T146I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAATCCACTAAGCCAGGT	0.373													30	37					0	0	0	0	T	140740139	C	T	140740139	3	4	328	1	0	0	0	0	1	0	0	0	11634	565	20	4	439	4	PCDHGB2	5	140740139	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	21192	140740139	40175121	814	59028											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745111	140745111	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgataattactatcacctatTaacaactagggacctggaca	15	11	6	9	0	1	1	1	1	0	0	1	3	1	3	2	2	3	0	2	2	7	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140745111T>G	ENST00000518069.1	+	1	1214	c.1214T>G	c.(1213-1215)tTa>tGa	p.L405*	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCACCTATTAACAACTAGG	0.413													29	57					0	0	0	0	G	140745111	T	G	140745111	4	3	328	1	0	0	0	0	0	1	0	0	11628	1764	61	5	1216	5	PCDHGA5	5	140745111	Nonsense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	4972	140745111	40170149	815	59029											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773134	140773134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatttaccgagtgaaagtcCttgagaacatgcccccaggc	11	8	10	12	2	0	2	0	2	0	1	1	5	1	2	4	1	3	0	4	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140773134C>T	ENST00000398604.2	+	1	754	c.754C>T	c.(754-756)Ctt>Ttt	p.L252F	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGAAAGTCCTTGAGAACAT	0.522													37	73					0	0	0	0	T	140773134	C	T	140773134	3	4	328	1	0	0	0	0	1	0	0	0	11631	681	24	4	756	4	PCDHGA8	5	140773134	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	28023	140773134	40142126	816	59030											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783494	140783494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atacaagctgaagatggtggGggattgaaagggtggacaaa	15	7	16	3	0	0	3	0	2	0	1	0	5	0	5	0	5	2	1	0	5	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140783494G>A	ENST00000573521.1	+	1	975	c.975G>A	c.(973-975)ggG>ggA	p.G325G	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGATGGTGGGGGATTGAAAG	0.383													36	105					0	0	0	0	A	140783494	G	A	140783494	2	1	328	1	0	0	0	0	0	0	0	1	11632	1219	43	4		4	PCDHGA9	5	140783494	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	10360	140783494	40131766	817	59031											
PCDHGA9	56107	broad.mit.edu	37	chr5	140784814	140784814	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaccgctgactcaaggaaGagtcacctgatcttccccca	10	8	7	16	1	4	3	3	2	1	1	5	4	5	4	4	1	0	1	4	1	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140784814G>C	ENST00000573521.1	+	1	2295	c.2295G>C	c.(2293-2295)aaG>aaC	p.K765N	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCAAGGAAGAGTCACCTGA	0.522													40	60					0	0	0	0	C	140784814	G	C	140784814	3	2	328	1	0	0	0	0	1	0	0	0	11632	933	33	2	2297	2	PCDHGA9	5	140784814	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1320	140784814	40130446	818	59032											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788355	140788355	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaaatacccagagttatctCtggagaaactcctagaccgg	13	8	9	11	1	1	3	0	0	1	3	3	4	2	3	3	2	2	2	3	2	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140788355C>G	ENST00000520790.1	+	1	586	c.586C>G	c.(586-588)Ctg>Gtg	p.L196V	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTTATCTCTGGAGAAACT	0.403													7	14					0	0	0	0	G	140788355	C	G	140788355	3	3	328	1	0	0	0	0	1	0	0	0	11638	912	32	2	588	2	PCDHGB6	5	140788355	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3541	140788355	40126905	819	59033											
PCDHGA10	56106	broad.mit.edu	37	chr5	140793084	140793084	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagttttaatatccttgtGgaagacagggtgaaactttt	11	15	11	4	0	0	3	0	2	0	1	1	4	1	4	1	2	1	1	1	2	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140793084G>A	ENST00000398610.2	+	1	342	c.342G>A	c.(340-342)gtG>gtA	p.V114V	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATCCTTGTGGAAGACAGGG	0.478													32	54					0	0	0	0	A	140793084	G	A	140793084	2	1	328	1	0	0	0	0	0	0	0	1	11622	1335	47	4		4	PCDHGA10	5	140793084	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4729	140793084	40122176	820	59034											
PCDHGC4	56098	broad.mit.edu	37	chr5	140866638	140866638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgcggacggctgttcCtatcccagctgacctcccac	6	8	12	15	2	0	1	0	1	0	0	3	3	3	3	4	4	2	3	4	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140866638C>T	ENST00000306593.1	+	1	1898	c.1898C>T	c.(1897-1899)cCt>cTt	p.P633L	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCTGTTCCTATCCCAGCT	0.532													11	20					0	0	0	0	T	140866638	C	T	140866638	3	4	328	1	0	0	0	0	1	0	0	0	11641	681	24	4	1900	4	PCDHGC4	5	140866638	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	73554	140866638	40048622	821	59035											
RELL2	285613	broad.mit.edu	37	chr5	141018523	141018523	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttccttcttccctcagcCaatgctgaggccttgaagga	7	13	8	13	0	2	2	1	2	1	0	4	3	4	3	4	2	2	1	4	2	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:141018523C>T	ENST00000297164.3	+	3	1452	c.250_splice	c.e3-1	p.A84_splice	RELL2_ENST00000444782.1_Splice_Site_p.A84_splice|RELL2_ENST00000518025.1_Intron|RELL2_ENST00000521367.1_Splice_Site_p.A18_splice|RELL2_ENST00000518856.1_Splice_Site_p.A18_splice	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	84						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCCTCAGCCAATGCTGAGG	0.557													22	28					0	0	0	0	T	141018523	C	T	141018523	5	4	328	1	0	0	0	0	0	0	1	0	13301	608	21	4	262	4	RELL2	5	141018523	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	151885	141018523	39896737	822	59036											
ARAP3	64411	broad.mit.edu	37	chr5	141059773	141059773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggtcctgggcttcggcacgGgcttagggggctgggcttgc	2	9	19	11	3	0	0	0	0	0	0	2	0	1	0	1	7	1	5	1	7	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:141059773G>A	ENST00000239440.4	-	2	346	c.281C>T	c.(280-282)cCc>cTc	p.P94L	ARAP3_ENST00000508305.1_Missense_Mutation_p.P16L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	94	Pro-rich.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTTCGGCACGGGCTTAGGGGG	0.657													35	49					0	0	0	0	A	141059773	G	A	141059773	3	1	328	1	0	0	0	0	1	0	0	0	842	1232	43	4	4481	4	ARAP3	5	141059773	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	41250	141059773	39855487	823	59037											
PCDH1	5097	broad.mit.edu	37	chr5	141236840	141236840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctcggggtgctccatctctCctatgctgccatcaggggtg	4	12	12	13	1	3	0	1	0	2	0	7	0	5	0	3	4	3	2	3	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:141236840C>T	ENST00000287008.3	-	4	3443	c.3296G>A	c.(3295-3297)gGa>gAa	p.G1099E	PCDH1_ENST00000503492.1_Missense_Mutation_p.G367E	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCCATCTCTCCTATGCTGCC	0.597													22	25					0	0	0	0	T	141236840	C	T	141236840	3	4	328	1	0	0	0	0	1	0	0	0	11577	855	30	2	425	2	PCDH1	5	141236840	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	177067	141236840	39678420	824	59038											
SH3RF2	153769	broad.mit.edu	37	chr5	145439428	145439428	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgtcctataattccccaGatggatccctgcagagaccc	9	10	7	15	0	1	2	0	0	1	2	4	4	4	3	5	1	1	1	5	1	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:145439428G>A	ENST00000511217.1	+	8	1607		c.e8-1		SH3RF2_ENST00000359120.4_Splice_Site|SH3RF2_ENST00000511705.1_Splice_Site			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2								ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAATTCCCCAGATGGATCCCT	0.597													15	42					0	0	0	0	A	145439428	G	A	145439428	5	1	328	1	0	0	0	0	0	0	1	0	14347	956	33	2	1585	2	SH3RF2	5	145439428	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4202588	145439428	35475832	825	59039											
LARS	51520	broad.mit.edu	37	chr5	145524196	145524196	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagactaaccactggtcaCacagagccacaacacattca	17	5	6	13	0	2	2	2	0	0	2	2	3	2	2	2	1	3	0	2	1	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:145524196C>A	ENST00000394434.2	-	16	1746	c.1580G>T	c.(1579-1581)tGt>tTt	p.C527F	LARS_ENST00000545646.1_Missense_Mutation_p.C481F|LARS_ENST00000274562.9_Missense_Mutation_p.C500F|LARS_ENST00000510191.1_Missense_Mutation_p.C473F	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	527					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCACTGGTCACACAGAGCCAC	0.393													24	46					4.59853e-10	4.64019e-10	1	0	A	145524196	C	A	145524196	3	1	328	1	0	0	0	0	1	0	0	0	8687	478	17	4	2018	4	LARS	5	145524196	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	84768	145524196	35391064	826	59040											
RBM27	54439	broad.mit.edu	37	chr5	145610319	145610319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaactcttctgagcagtattCctctggggcacagtctattc	9	13	8	11	0	4	1	0	1	4	0	6	1	5	1	1	2	2	3	1	2	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:145610319C>T	ENST00000265271.5	+	6	855	c.689C>T	c.(688-690)tCc>tTc	p.S230F	RBM27_ENST00000506502.1_Missense_Mutation_p.S230F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	230					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCAGTATTCCTCTGGGGCA	0.463													27	37					0	0	0	0	T	145610319	C	T	145610319	3	4	328	1	0	0	0	0	1	0	0	0	13209	855	30	2	711	2	RBM27	5	145610319	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	86123	145610319	35304941	827	59041											
DPYSL3	1809	broad.mit.edu	37	chr5	146798021	146798021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagacttactgatcatggtgGtgccacctgctaaggccgcc	9	9	11	12	1	1	2	1	1	0	1	1	2	1	2	4	3	3	1	4	3	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:146798021G>A	ENST00000343218.5	-	3	841	c.644C>T	c.(643-645)aCc>aTc	p.T215I	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Missense_Mutation_p.T101I	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	101					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCATGGTGGTGCCACCTGC	0.433													76	103					0	0	0	0	A	146798021	G	A	146798021	3	1	328	1	0	0	0	0	1	0	0	0	4784	1261	44	4	1458	4	DPYSL3	5	146798021	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1187702	146798021	34117239	828	59042											
JAKMIP2	9832	broad.mit.edu	37	chr5	147023718	147023718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggtcgaggtcattcagaGattttaatttcttcaggggt	8	16	11	6	1	4	1	3	0	1	1	5	3	4	1	0	4	0	0	0	4	1	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:147023718G>A	ENST00000265272.5	-	7	1594	c.1127C>T	c.(1126-1128)tCt>tTt	p.S376F	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.S334F|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.S376F	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	376						Golgi apparatus		p.S376Y(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCATTCAGAGATTTTAATTT	0.373													25	45					0	0	0	0	A	147023718	G	A	147023718	3	1	328	1	0	0	0	0	1	0	0	0	7994	942	33	2	1365	2	JAKMIP2	5	147023718	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	225697	147023718	33891542	829	59043											
JAKMIP2	9832	broad.mit.edu	37	chr5	147023758	147023758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatgggatgttattttttCtctctggattggaaaagaag	10	16	12	3	0	2	1	0	0	2	1	3	5	2	5	0	4	0	1	0	4	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:147023758C>T	ENST00000265272.5	-	7	1554	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E321K|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E363K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	363						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTATTTTTTCTCTCTGGATT	0.358													24	30					0	0	0	0	T	147023758	C	T	147023758	3	4	328	1	0	0	0	0	1	0	0	0	7994	922	32	2	1405	2	JAKMIP2	5	147023758	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	40	147023758	33891502	830	59044											
SPINK5	11005	broad.mit.edu	37	chr5	147513428	147513428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcagcaccccaggaaccaCcgcagccagcatgcccccgt	10	2	10	19	2	0	0	0	0	0	0	0	2	0	1	7	1	6	4	7	1	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:147513428C>T	ENST00000359874.3	+	33	3327	c.3254C>T	c.(3253-3255)aCc>aTc	p.T1085I	SPINK5_ENST00000256084.7_Missense_Mutation_p.T1055I	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1055					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGAACCACCGCAGCCAGC	0.512													21	38					0	0	0	0	T	147513428	C	T	147513428	3	4	328	1	0	0	0	0	1	0	0	0	15152	507	18	4	3396	4	SPINK5	5	147513428	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	489670	147513428	33401832	831	59045											
SH3TC2	79628	broad.mit.edu	37	chr5	148406772	148406772	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttggagtgcaagtcccagGaggttatagatgactcccct	9	10	11	11	0	0	2	0	1	0	1	2	4	2	4	4	3	1	2	4	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:148406772G>A	ENST00000538184.1	-	7	2052	c.1164C>T	c.(1162-1164)ctC>ctT	p.L388L	SH3TC2_ENST00000515425.1_Silent_p.L841L|SH3TC2_ENST00000512049.1_Silent_p.L834L|SH3TC2_ENST00000394358.2_Silent_p.L726L			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	841							binding			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)			CAAGTCCCAGGAGGTTATAGA	0.557													112	146					0	0	0	0	A	148406772	G	A	148406772	2	1	328	1	0	0	0	0	0	0	0	1	14350	1161	41	2		2	SH3TC2	5	148406772	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	893344	148406772	32508488	832	59046											
PCYOX1L	78991	broad.mit.edu	37	chr5	148747966	148747966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctaaagaccctgttcCgttcctattactcagtgcag	9	11	7	14	1	1	1	1	0	0	1	3	1	3	1	4	0	3	4	4	0	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:148747966C>T	ENST00000514349.1	+	5	1543	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.R412C			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	412					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCCTGTTCCGTTCCTATTA	0.607													54	82					0	0	0	0	T	148747966	C	T	148747966	3	4	328	1	0	0	0	0	1	0	0	0	11680	652	23	1	1256	1	PCYOX1L	5	148747966	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	341194	148747966	32167294	833	59047											
CD74	972	broad.mit.edu	37	chr5	149782189	149782189	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctccagttccagtgactCtgcaaaggagcagcaagtcc	10	8	10	13	0	1	1	0	1	1	0	5	2	5	2	4	1	3	4	4	1	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:149782189C>T	ENST00000353334.6	-	7	805		c.e7-1		CD74_ENST00000009530.7_Splice_Site|CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Splice_Site	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain						antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAGTGACTCTGCAAAGGAG	0.592			T	ROS1	NSCLC								51	71					0	0	0	0	T	149782189	C	T	149782189	5	4	328	1	0	0	0	0	0	0	1	0	3064	927	32	2	81	2	CD74	5	149782189	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1034223	149782189	31133071	834	59048											
SLC36A2	153201	broad.mit.edu	37	chr5	150722526	150722526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccgtgtccccatagtcCataaagggcttgttaagcct	10	11	8	12	1	1	0	1	0	0	0	3	0	3	0	5	1	1	2	5	1	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:150722526C>T	ENST00000335244.4	-	4	492	c.363G>A	c.(361-363)atG>atA	p.M121I	SLC36A2_ENST00000521967.1_Missense_Mutation_p.M121I	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	121					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCATAGTCCATAAAGGGCT	0.498													25	35					0	0	0	0	T	150722526	C	T	150722526	3	4	328	1	0	0	0	0	1	0	0	0	14682	594	21	4	1116	4	SLC36A2	5	150722526	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	940337	150722526	30192734	835	59049											
FAT2	2196	broad.mit.edu	37	chr5	150886943	150886943	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcgatggcaggcatggCttgggtgtcaacaccaacac	10	7	13	11	1	1	0	1	0	0	0	2	2	1	0	1	4	3	4	1	4	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:150886943C>A	ENST00000261800.5	-	22	12301	c.12289G>T	c.(12289-12291)Gcc>Tcc	p.A4097S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4097					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGCATGGCTTGGGTGTCA	0.577													37	45					1.60099e-16	1.62927e-16	1	0	A	150886943	C	A	150886943	3	1	328	1	0	0	0	0	1	0	0	0	5735	797	28	4	768	4	FAT2	5	150886943	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	164417	150886943	30028317	836	59050											
FAT2	2196	broad.mit.edu	37	chr5	150943158	150943158	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataccgtcaaccagtagtaaGatgcaaattctcggtccagg	13	9	9	10	2	2	1	1	0	1	1	4	1	3	1	3	2	3	3	3	2	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:150943158G>C	ENST00000261800.5	-	2	3314	c.3302C>G	c.(3301-3303)tCt>tGt	p.S1101C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1101	Cadherin 9.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTAGTAAGATGCAAATTC	0.468													22	28					0	0	0	0	C	150943158	G	C	150943158	3	2	328	1	0	0	0	0	1	0	0	0	5735	942	33	2	9835	2	FAT2	5	150943158	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	56215	150943158	29972102	837	59051											
FAT2	2196	broad.mit.edu	37	chr5	150946583	150946583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgaggctgtaatcttcaggGaataactggtgggttgacca	10	11	13	7	0	2	2	1	2	1	0	2	3	2	3	1	4	1	3	1	4	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:150946583G>A	ENST00000261800.5	-	1	1922	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	637	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATCTTCAGGGAATAACTGGT	0.413													38	59					0	0	0	0	A	150946583	G	A	150946583	3	1	328	1	0	0	0	0	1	0	0	0	5735	1174	41	2	11231	2	FAT2	5	150946583	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3425	150946583	29968677	838	59052											
FAT2	2196	broad.mit.edu	37	chr5	150947317	150947317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctttagaacatactgcagGttggggaaggctggggtgac	9	9	17	6	0	0	2	0	1	0	1	0	3	0	3	0	7	3	4	0	7	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:150947317G>A	ENST00000261800.5	-	1	1188	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	392	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATACTGCAGGTTGGGGAAGG	0.498													18	51					0	0	0	0	A	150947317	G	A	150947317	2	1	328	1	0	0	0	0	0	0	0	1	5735	1252	44	4		4	FAT2	5	150947317	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	734	150947317	29967943	839	59053											
GLRA1	2741	broad.mit.edu	37	chr5	151202405	151202405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacttagatggtgcaggaggGgggttggtggtgttactgtt	6	13	19	3	0	0	1	0	0	0	1	0	3	0	2	0	7	2	4	0	7	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:151202405G>A	ENST00000274576.4	-	9	1471	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	GLRA1_ENST00000455880.2_Silent_p.P401P|GLRA1_ENST00000545569.1_Silent_p.P310P	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	401					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGCAGGAGGGGGGTTGGTGG	0.552													43	68					0	0	0	0	A	151202405	G	A	151202405	2	1	328	1	0	0	0	0	0	0	0	1	6505	1219	43	4		4	GLRA1	5	151202405	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	255088	151202405	29712855	840	59054											
GLRA1	2741	broad.mit.edu	37	chr5	151271933	151271933	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctccccattagcttatccagGaaatccgagggtgacatagg	11	9	10	11	1	0	1	0	1	0	0	3	3	3	2	4	3	1	1	4	3	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:151271933G>A	ENST00000274576.4	-	2	415	c.123C>T	c.(121-123)ttC>ttT	p.F41F	GLRA1_ENST00000455880.2_Silent_p.F41F|GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000471351.2_5'UTR	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	41					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTTATCCAGGAAATCCGAGG	0.498													23	32					0	0	0	0	A	151271933	G	A	151271933	2	1	328	1	0	0	0	0	0	0	0	1	6505	1165	41	2		2	GLRA1	5	151271933	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	69528	151271933	29643327	841	59055											
ITK	3702	broad.mit.edu	37	chr5	156608056	156608056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaaaagagaagaacttctcCctcgaactttaaagtccgct	15	9	6	11	2	1	2	0	0	1	2	4	4	2	2	2	0	2	1	2	0	7	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:156608056C>T	ENST00000422843.3	+	1	220	c.68C>T	c.(67-69)cCc>cTc	p.P23L		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	23	PH.		P -> L (in a metastatic melanoma sample; somatic mutation).		cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P23L(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAACTTCTCCCTCGAACTTT	0.433			T	SYK	peripheral T-cell lymphoma								38	74					0	0	0	0	T	156608056	C	T	156608056	3	4	328	1	0	0	0	0	1	0	0	0	7962	623	22	4	70	4	ITK	5	156608056	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5336123	156608056	24307204	842	59056											
EBF1	1879	broad.mit.edu	37	chr5	158139297	158139297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctggggagtggtgctcgGcacgtacccgtgtggtgata	5	10	17	9	3	0	1	0	1	0	0	1	2	0	2	1	5	3	4	1	5	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:158139297G>A	ENST00000313708.6	-	14	1696	c.1414C>T	c.(1414-1416)Ccg>Tcg	p.P472S	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.P441S|EBF1_ENST00000517373.1_Intron	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	472	Pro/Ser/Thr-rich.				multicellular organismal development	nucleus	DNA binding|metal ion binding	p.P472T(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGGTGCTCGGCACGTACCCG	0.597			T	HMGA2	lipoma								8	15					0	0	0	0	A	158139297	G	A	158139297	3	1	328	1	0	0	0	0	1	0	0	0	4916	1203	42	4	373	4	EBF1	5	158139297	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1531241	158139297	22775963	843	59057											
RNF145	153830	broad.mit.edu	37	chr5	158630511	158630511	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attactaaggctacttctttGgatctgctggaaaaaggagc	12	12	10	7	0	2	0	0	0	2	0	2	3	2	3	0	4	4	2	0	4	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:158630511G>A	ENST00000424310.2	-	2	474	c.115C>T	c.(115-117)Caa>Taa	p.Q39*	RNF145_ENST00000520638.1_Nonsense_Mutation_p.Q53*|RNF145_ENST00000519865.1_Nonsense_Mutation_p.Q39*|RNF145_ENST00000521606.2_Nonsense_Mutation_p.Q56*|RNF145_ENST00000518802.1_Nonsense_Mutation_p.Q69*|RNF145_ENST00000274542.2_Nonsense_Mutation_p.Q67*	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	39						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTACTTCTTTGGATCTGCTGG	0.423													43	71					0	0	0	0	A	158630511	G	A	158630511	4	1	328	1	0	0	0	0	0	1	0	0	13532	1357	47	4	1916	4	RNF145	5	158630511	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	491214	158630511	22284749	844	59058											
ATP10B	23120	broad.mit.edu	37	chr5	159992485	159992485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtcagtgaactctgggatCggcgatggctgctcctcttt	5	13	13	10	2	3	1	1	1	2	0	5	3	4	2	1	4	2	2	1	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:159992485C>T	ENST00000327245.5	-	26	5207	c.4361G>A	c.(4360-4362)cGa>cAa	p.R1454Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1454					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCTGGGATCGGCGATGGCT	0.532													33	62					0	0	0	0	T	159992485	C	T	159992485	3	4	328	1	0	0	0	0	1	0	0	0	1121	884	31	1	28	1	ATP10B	5	159992485	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1361974	159992485	20922775	845	59059											
GABRA6	2559	broad.mit.edu	37	chr5	161128682	161128682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaaatagaccagtattctcGaattctcttcccagttgcat	12	14	5	10	1	2	1	0	0	2	1	5	2	3	1	2	0	1	3	2	0	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:161128682G>A	ENST00000523217.1	+	9	1477	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	GABRA6_ENST00000274545.5_Missense_Mutation_p.R422Q	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	422					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGTATTCTCGAATTCTCTTC	0.458										TCGA Ovarian(5;0.080)			24	45					0	0	0	0	A	161128682	G	A	161128682	3	1	328	1	0	0	0	0	1	0	0	0	6213	1058	37	1	1299	1	GABRA6	5	161128682	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1136197	161128682	19786578	846	59060											
GABRG2	2566	broad.mit.edu	37	chr5	161580116	161580116	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggcccctaccattgatatCcgcccaagatcagcaaccat	12	7	6	16	1	1	2	1	1	0	1	2	2	2	2	6	1	3	1	6	1	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:161580116C>T	ENST00000356592.3	+	10	1630	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	GABRG2_ENST00000361925.4_Silent_p.I382I|GABRG2_ENST00000393933.4_Silent_p.I287I|GABRG2_ENST00000414552.2_Silent_p.I430I	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	382					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CCATTGATATCCGCCCAAGAT	0.488													14	28					0	0	0	0	T	161580116	C	T	161580116	2	4	328	1	0	0	0	0	0	0	0	1	6220	845	30	2		2	GABRG2	5	161580116	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	451434	161580116	19335144	847	59061											
KCNMB1	3779	broad.mit.edu	37	chr5	169805801	169805801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaggaaggtgggccagaaGagggagaagaggagggcctg	13	2	21	5	0	0	4	0	0	0	4	0	7	0	6	2	6	1	1	2	6	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:169805801G>A	ENST00000274629.4	-	4	925	c.483C>T	c.(481-483)ctC>ctT	p.L161L	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	161					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGGGCCAGAAGAGGGAGAAGA	0.607													33	27					0	0	0	0	A	169805801	G	A	169805801	2	1	328	1	0	0	0	0	0	0	0	1	8127	929	33	2		2	KCNMB1	5	169805801	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	8225685	169805801	11109459	848	59062											
KCNIP1	30820	broad.mit.edu	37	chr5	169931580	169931580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcaagtcttcgctgccatgGgggccgtcatgggcaccttc	5	10	12	14	2	3	0	2	0	1	0	5	0	3	0	3	3	1	2	3	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:169931580G>A	ENST00000328939.4	+	1	541	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	KCNIP1_ENST00000520740.1_5'UTR|KCNIP1_ENST00000434108.1_Missense_Mutation_p.G2R|KCNIP1_ENST00000390656.4_Missense_Mutation_p.G2R|KCNIP1_ENST00000411494.1_Missense_Mutation_p.G2R|KCNIP1_ENST00000377360.4_Intron	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	2					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGCTGCCATGGGGGCCGTCAT	0.582													29	41					0	0	0	0	A	169931580	G	A	169931580	3	1	328	1	0	0	0	0	1	0	0	0	8092	1232	43	4	98	4	KCNIP1	5	169931580	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	125779	169931580	10983680	849	59063											
GPRIN1	114787	broad.mit.edu	37	chr5	176026126	176026126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggatccacctttctcaaaGacccaggatcctccttcctc	9	10	5	17	0	1	1	1	0	1	1	7	3	5	3	6	2	0	0	6	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176026126G>A	ENST00000303991.4	-	2	887	c.710C>T	c.(709-711)tCt>tTt	p.S237F		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	237				Missing (in Ref. 4; CAD38868).		growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTTCTCAAAGACCCAGGATC	0.488													62	17					0	0	0	0	A	176026126	G	A	176026126	3	1	328	1	0	0	0	0	1	0	0	0	6779	942	33	2	2320	2	GPRIN1	5	176026126	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6094546	176026126	4889134	850	59064											
UNC5A	90249	broad.mit.edu	37	chr5	176304608	176304608	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccctggcgtcctgctcacCcggccagtcatcctggctat	4	9	9	19	2	2	0	2	0	0	0	4	0	4	0	6	3	1	2	6	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176304608C>T	ENST00000329542.4	+	10	1813	c.1539C>T	c.(1537-1539)acC>acT	p.T513T	UNC5A_ENST00000261961.3_Silent_p.T473T	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	513	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTGCTCACCCGGCCAGTCA	0.637													15	37					0	0	0	0	T	176304608	C	T	176304608	2	4	328	1	0	0	0	0	0	0	0	1	17087	610	22	4		4	UNC5A	5	176304608	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	278482	176304608	4610652	851	59065											
FGFR4	2264	broad.mit.edu	37	chr5	176520154	176520154	+	Nonsense_Mutation	SNP	G	G	A																															ggcagaggaggaccccacatGgaccgcagcagcgcccgagg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176520154G>A	ENST00000292408.4	+	9	1318	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000393648.2_Nonsense_Mutation_p.W358*|FGFR4_ENST00000502906.1_Nonsense_Mutation_p.W358*	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	358					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GACCCCACATGGACCGCAGCA	0.642										TSP Lung(9;0.080)			14	16					0	0	0	0	A	176520154	G	A	176520154	4	1	328	1	0	0	0	0	0	1	0	0	5913	1357	47	4	1103	4	FGFR4	5	176520154	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	215546	176520154	4395106	852	59066	546	2									
FGFR4	2264	broad.mit.edu	37	chr5	176520155	176520155	+	Nonsense_Mutation	SNP	G	G	A																															gcagaggaggaccccacatgGaccgcagcagcgcccgaggc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176520155G>A	ENST00000292408.4	+	9	1319	c.1074G>A	c.(1072-1074)tgG>tgA	p.W358*	FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000393648.2_Nonsense_Mutation_p.W358*|FGFR4_ENST00000502906.1_Nonsense_Mutation_p.W358*	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	358					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	ACCCCACATGGACCGCAGCAG	0.642										TSP Lung(9;0.080)			14	16					0	0	0	0	A	176520155	G	A	176520155	4	1	328	1	0	0	0	0	0	1	0	0	5913	1183	41	2	1104	2	FGFR4	5	176520155	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	176520155	4395105	853	59067	546	2									
NSD1	64324	broad.mit.edu	37	chr5	176636700	176636700	+	Missense_Mutation	SNP	C	C	T																															ttgcagaacagtatgatgttCccaaggggtcaaagaaccga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176636700C>T	ENST00000439151.2	+	5	1345	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	NSD1_ENST00000361032.4_Missense_Mutation_p.P331S|NSD1_ENST00000347982.4_Missense_Mutation_p.P165S|NSD1_ENST00000354179.4_Missense_Mutation_p.P165S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	434					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTATGATGTTCCCAAGGGGTC	0.378			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			25	37					0	0	0	0	T	176636700	C	T	176636700	3	4	328	1	0	0	0	0	1	0	0	0	10740	855	30	2	1314	2	NSD1	5	176636700	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	116545	176636700	4278560	854	59068	547	2									
NSD1	64324	broad.mit.edu	37	chr5	176636701	176636701	+	Missense_Mutation	SNP	C	C	T																															tgcagaacagtatgatgttcCcaaggggtcaaagaaccgaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176636701C>T	ENST00000439151.2	+	5	1346	c.1301C>T	c.(1300-1302)cCc>cTc	p.P434L	NSD1_ENST00000361032.4_Missense_Mutation_p.P331L|NSD1_ENST00000347982.4_Missense_Mutation_p.P165L|NSD1_ENST00000354179.4_Missense_Mutation_p.P165L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	434					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TATGATGTTCCCAAGGGGTCA	0.378			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			25	38					0	0	0	0	T	176636701	C	T	176636701	3	4	328	1	0	0	0	0	1	0	0	0	10740	623	22	4	1315	4	NSD1	5	176636701	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	176636701	4278559	855	59069	547	2									
GRK6	2870	broad.mit.edu	37	chr5	176859793	176859793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtccctgcaaagaccttttCcaggaactcacccggtaagc	10	8	9	14	1	1	1	1	0	0	1	3	2	3	2	4	3	3	2	4	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176859793C>T	ENST00000355472.5	+	5	594	c.426C>T	c.(424-426)ttC>ttT	p.F142F	GRK6_ENST00000393576.3_Silent_p.F142F|GRK6_ENST00000507633.1_Silent_p.F142F|GRK6_ENST00000355958.5_Silent_p.F142F|GRK6_ENST00000528793.1_Silent_p.F142F	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	142	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGACCTTTTCCAGGAACTCA	0.637													5	13					0	0	0	0	T	176859793	C	T	176859793	2	4	328	1	0	0	0	0	0	0	0	1	6843	854	30	2		2	GRK6	5	176859793	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	223092	176859793	4055467	856	59070											
GRK6	2870	broad.mit.edu	37	chr5	176863228	176863228	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagcggctggtgaaggaggtCcccgaggagtattccgagcg	8	6	18	9	4	0	1	0	1	0	0	2	6	2	3	3	5	2	2	3	5	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176863228C>T	ENST00000355472.5	+	12	1380	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	GRK6_ENST00000393576.3_Silent_p.V370V|GRK6_ENST00000507633.1_Silent_p.V404V|GRK6_ENST00000355958.5_Silent_p.V404V|GRK6_ENST00000528793.1_Silent_p.V404V	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	404	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGGAGGTCCCCGAGGAGT	0.632													25	46					0	0	0	0	T	176863228	C	T	176863228	2	4	328	1	0	0	0	0	0	0	0	1	6843	842	30	2		2	GRK6	5	176863228	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3435	176863228	4052032	857	59071											
HNRNPAB	3182	broad.mit.edu	37	chr5	177637261	177637261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctattacggctacggccccGgctacgactacagtaagtag	10	8	11	12	4	0	0	0	0	0	0	0	1	0	0	2	3	4	5	2	3	7	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:177637261G>A	ENST00000358344.3	+	7	1173	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	HNRNPAB_ENST00000504898.1_Missense_Mutation_p.G306S|HNRNPAB_ENST00000355836.5_Intron|HNRNPAB_ENST00000514633.1_Intron|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.G301S|HNRNPAB_ENST00000506259.1_Intron|PHYKPL_ENST00000308158.5_Intron|HNRNPAB_ENST00000515193.1_Intron|PHYKPL_ENST00000481811.1_Intron	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	306	Gly-rich.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						CTACGGCCCCGGCTACGACTA	0.642													19	30					0	0	0	0	A	177637261	G	A	177637261	3	1	328	1	0	0	0	0	1	0	0	0	7311	1116	39	1	938	1	HNRNPAB	5	177637261	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	774033	177637261	3277999	858	59072											
ZNF354A	6940	broad.mit.edu	37	chr5	178140027	178140027	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttcttagatgtttataaagGgatgtactgagagtaaaggc	13	13	12	3	0	1	2	0	1	1	2	1	4	1	3	0	2	1	4	0	2	7	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:178140027G>A	ENST00000335815.2	-	5	1049	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	284					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GTTTATAAAGGGATGTACTGA	0.378													32	53					0	0	0	0	A	178140027	G	A	178140027	2	1	328	1	0	0	0	0	0	0	0	1	17959	1219	43	4		4	ZNF354A	5	178140027	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	502766	178140027	2775233	859	59073											
RNF130	55819	broad.mit.edu	37	chr5	179440081	179440081	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggttcctgtcgcgtgcatTtgtgtacctgatcttctgaa	5	16	10	10	2	2	2	0	2	2	0	4	2	3	2	2	1	2	3	2	1	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:179440081T>A	ENST00000522208.2	-	3	691	c.673A>T	c.(673-675)Aat>Tat	p.N225Y	RNF130_ENST00000521389.1_Missense_Mutation_p.N225Y|RNF130_ENST00000261947.4_Missense_Mutation_p.N225Y			Q86XS8	GOLI_HUMAN	ring finger protein 130	225					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGCGTGCATTTGTGTACCTG	0.433													59	85					0	0	0	0	A	179440081	T	A	179440081	3	1	328	1	0	0	0	0	1	0	0	0	13523	1841	64	5	614	5	RNF130	5	179440081	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1300054	179440081	1475179	860	59074											
GFPT2	9945	broad.mit.edu	37	chr5	179731940	179731940	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggttatctctttaattttCtggaaacaggaggtgagatc	11	15	10	5	0	2	1	0	1	2	1	4	4	2	3	0	4	1	1	0	4	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:179731940C>T	ENST00000253778.8	-	17	1844		c.e17-1			NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2						dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTTTAATTTTCTGGAAACAGG	0.547													42	72					0	0	0	0	T	179731940	C	T	179731940	5	4	328	1	0	0	0	0	0	0	1	0	6397	927	32	2	386	2	GFPT2	5	179731940	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	291859	179731940	1183320	861	59075											
BTNL3	10917	broad.mit.edu	37	chr5	180424258	180424258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catcgtgggatatgttgacgGaggtatccagttactctgcc	8	12	12	9	2	1	1	0	1	1	0	3	3	2	3	2	3	2	3	2	3	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:180424258G>A	ENST00000342868.6	+	3	627	c.443G>A	c.(442-444)gGa>gAa	p.G148E		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	148	Ig-like V-type.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TATGTTGACGGAGGTATCCAG	0.502													32	69					0	0	0	0	A	180424258	G	A	180424258	3	1	328	1	0	0	0	0	1	0	0	0	1575	1174	41	2	453	2	BTNL3	5	180424258	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	692318	180424258	491002	862	59076											
TRIM7	81786	broad.mit.edu	37	chr5	180622618	180622618	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgccgaggcgcacgccctTaagatccagagagaggatga	11	5	13	12	4	0	4	0	1	0	3	2	7	1	5	3	2	0	1	3	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:180622618T>G	ENST00000393315.1	-	7	1157	c.460A>C	c.(460-462)Aag>Cag	p.K154Q	TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000422067.2_Missense_Mutation_p.K154Q|TRIM7_ENST00000274773.7_Missense_Mutation_p.K362Q|TRIM7_ENST00000393319.3_Missense_Mutation_p.K180Q|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000361809.3_Missense_Mutation_p.K154Q	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	362						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CGCACGCCCTTAAGATCCAGA	0.672													32	41					0	0	0	0	G	180622618	T	G	180622618	3	3	328	1	0	0	0	0	1	0	0	0	16638	1763	61	5	455	5	TRIM7	5	180622618	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	198360	180622618	292642	863	59077											
F13A1	2162	broad.mit.edu	37	chr6	6266848	6266848	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctgggtttcgactggttcGaagtacgccatagggagtcc	7	12	13	9	3	1	0	0	0	1	0	4	3	2	1	2	3	1	3	2	3	3	5	rs121913065		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:6266848G>A	ENST00000264870.3	-	4	779	c.514C>T	c.(514-516)Cga>Tga	p.R172*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	172					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)	CGACTGGTTCGAAGTACGCCA	0.458													4	69					0	0	0	0	A	6266848	G	A	6266848	4	1	328	1	0	0	0	0	0	1	0	0	5378	1066	37	1	1732	1	F13A1	6	6266848	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08		6266848	164848219	864	59078											
RREB1	6239	broad.mit.edu	37	chr6	7230907	7230907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttggtgactgcaagcccCtcactgccttcctggaaccc	6	9	8	18	0	1	1	1	1	0	0	2	2	2	2	6	2	4	1	6	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:7230907C>T	ENST00000379938.2	+	10	3112	c.2575C>T	c.(2575-2577)Ctc>Ttc	p.L859F	RREB1_ENST00000379933.3_Missense_Mutation_p.L859F|RREB1_ENST00000349384.6_Missense_Mutation_p.L859F|RREB1_ENST00000334984.6_Missense_Mutation_p.L859F	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	859					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGCAAGCCCCTCACTGCCTT	0.701													8	13					0	0	0	0	T	7230907	C	T	7230907	3	4	328	1	0	0	0	0	1	0	0	0	13764	681	24	4	2601	4	RREB1	6	7230907	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	964059	7230907	163884160	865	59079											
RREB1	6239	broad.mit.edu	37	chr6	7232112	7232112	+	Silent	SNP	C	C	T																															gttttcccttgggccagctcCctacagaggcacatgctcac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:7232112C>T	ENST00000379938.2	+	10	4317	c.3780C>T	c.(3778-3780)tcC>tcT	p.S1260S	RREB1_ENST00000379933.3_Silent_p.S1260S|RREB1_ENST00000349384.6_Silent_p.S1260S|RREB1_ENST00000334984.6_Silent_p.S1260S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1260					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGGCCAGCTCCCTACAGAGGC	0.607													16	11					0	0	0	0	T	7232112	C	T	7232112	2	4	328	1	0	0	0	0	0	0	0	1	13764	610	22	4		4	RREB1	6	7232112	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1205	7232112	163882955	866	59080	548	2									
RREB1	6239	broad.mit.edu	37	chr6	7232113	7232113	+	Silent	SNP	C	C	T																															ttttcccttgggccagctccCtacagaggcacatgctcaca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:7232113C>T	ENST00000379938.2	+	10	4318	c.3781C>T	c.(3781-3783)Cta>Tta	p.L1261L	RREB1_ENST00000379933.3_Silent_p.L1261L|RREB1_ENST00000349384.6_Silent_p.L1261L|RREB1_ENST00000334984.6_Silent_p.L1261L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1261					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGCCAGCTCCCTACAGAGGCA	0.602													16	12					0	0	0	0	T	7232113	C	T	7232113	2	4	328	1	0	0	0	0	0	0	0	1	13764	680	24	4		4	RREB1	6	7232113	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	7232113	163882954	867	59081	548	2									
DSP	1832	broad.mit.edu	37	chr6	7571787	7571787	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaccagaccctggtcattCagctccctggctatccccag	8	10	7	16	0	2	1	2	0	0	1	4	1	4	1	5	2	2	2	5	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:7571787C>T	ENST00000379802.3	+	14	2214	c.1873C>T	c.(1873-1875)Cag>Tag	p.Q625*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q625*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	625	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCTGGTCATTCAGCTCCCTGG	0.468													46	24					0	0	0	0	T	7571787	C	T	7571787	4	4	328	1	0	0	0	0	0	1	0	0	4817	827	29	2	1927	2	DSP	6	7571787	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	339674	7571787	163543280	868	59082											
SYCP2L	221711	broad.mit.edu	37	chr6	10928652	10928652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcttcagccggtccctcCgttcggggtccctgacttcc	4	11	10	16	3	1	1	1	1	0	0	6	1	5	1	5	3	2	2	5	3	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:10928652C>T	ENST00000283141.6	+	18	1753	c.1457C>T	c.(1456-1458)cCg>cTg	p.P486L	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	486						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ccggtccctccgttcggggtc	0.473													22	8					0	0	0	0	T	10928652	C	T	10928652	3	4	328	1	0	0	0	0	1	0	0	0	15524	652	23	1	1527	1	SYCP2L	6	10928652	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3356865	10928652	160186415	869	59083											
PHACTR1	221692	broad.mit.edu	37	chr6	13185136	13185136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaacctgctgctttccCtggagaccatgaagagaccc	13	7	8	13	0	0	3	0	1	0	2	1	5	1	3	4	1	3	2	4	1	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:13185136C>T	ENST00000379345.2	+	5	576	c.335C>T	c.(334-336)cCt>cTt	p.P112L	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	51						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCTGCTTTCCCTGGAGACCAT	0.577													5	55					0	0	0	0	T	13185136	C	T	13185136	3	4	328	1	0	0	0	0	1	0	0	0	11881	696	24	4		4	PHACTR1	6	13185136	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2256484	13185136	157929931	870	59084											
KIF13A	63971	broad.mit.edu	37	chr6	17781111	17781111	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacagaatcatgcaccgaGgaatcccaagaggctgtggc	13	6	12	10	1	1	3	1	1	0	2	2	5	2	4	2	3	2	2	2	3	4	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:17781111G>A	ENST00000378814.5	-	30	3656	c.3657C>T	c.(3655-3657)tcC>tcT	p.S1219S	KIF13A_ENST00000259711.6_Silent_p.S1232S|KIF13A_ENST00000378816.5_Silent_p.S1232S|KIF13A_ENST00000378826.2_Silent_p.S1232S|KIF13A_ENST00000378843.2_Silent_p.S1219S	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1232					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATGCACCGAGGAATCCCAAG	0.448													24	15					0	0	0	0	A	17781111	G	A	17781111	2	1	328	1	0	0	0	0	0	0	0	1	8325	987	35	4		4	KIF13A	6	17781111	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4595975	17781111	153333956	871	59085											
KIAA0319	9856	broad.mit.edu	37	chr6	24596621	24596621	+	Missense_Mutation	SNP	C	C	T																															tgagataagacctgatggggCccatcttcttgggctcacag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:24596621C>T	ENST00000535378.1	-	4	896	c.254G>A	c.(253-255)gGc>gAc	p.G85D	KIAA0319_ENST00000537886.1_Missense_Mutation_p.G94D|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G94D|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G94D|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G49D	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	94	MANSC.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCTGATGGGGCCCATCTTCTT	0.602													25	19					0	0	0	0	T	24596621	C	T	24596621	3	4	328	1	0	0	0	0	1	0	0	0	8219	739	26	4	3013	4	KIAA0319	6	24596621	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6815510	24596621	146518446	872	59086	549	2									
KIAA0319	9856	broad.mit.edu	37	chr6	24596622	24596622	+	Missense_Mutation	SNP	C	C	T																															gagataagacctgatggggcCcatcttcttgggctcacagt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:24596622C>T	ENST00000535378.1	-	4	895	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	KIAA0319_ENST00000537886.1_Missense_Mutation_p.G94S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G94S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G94S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G49S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	94	MANSC.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGATGGGGCCCATCTTCTTG	0.597													26	19					0	0	0	0	T	24596622	C	T	24596622	3	4	328	1	0	0	0	0	1	0	0	0	8219	623	22	4	3014	4	KIAA0319	6	24596622	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	24596622	146518445	873	59087	549	2									
HIST1H4E	8367	broad.mit.edu	37	chr6	26205038	26205038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctcatctacgaggagactCgcggggttctgaaggtgttt	7	12	14	8	3	3	2	1	1	3	1	5	4	3	2	0	4	1	2	0	4	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:26205038C>T	ENST00000360441.4	+	1	181	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	56					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CGAGGAGACTCGCGGGGTTCT	0.557													34	39					0	0	0	0	T	26205038	C	T	26205038	3	4	328	1	0	0	0	0	1	0	0	0	7219	884	31	1	168	1	HIST1H4E	6	26205038	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1608416	26205038	144910029	874	59088											
BTN2A2	10385	broad.mit.edu	37	chr6	26384039	26384039	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctctggtctctgcctgcCctgggtgctcatggaaccag	4	10	13	14	0	3	0	1	0	2	0	4	1	3	1	4	4	4	1	4	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:26384039C>A	ENST00000356709.4	+	0	101				BTN2A2_ENST00000482536.1_De_novo_Start_OutOfFrame|BTN2A2_ENST00000352867.2_De_novo_Start_OutOfFrame|BTN2A2_ENST00000469230.1_De_novo_Start_OutOfFrame|BTN2A2_ENST00000432533.2_De_novo_Start_OutOfFrame|BTN2A2_ENST00000416795.2_De_novo_Start_OutOfFrame	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2						negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CTCTGCCTGCCCTGGGTGCTC	0.612													34	28					9.85521e-28	1.00815e-27	1	0	A	26384039	C	A	26384039	1	1	328	1	0	0	0	0	0	0	0	0	1570	638	22	4		4	BTN2A2	6	26384039	Translation_Start_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	179001	26384039	144731028	875	59089											
ZNF391	346157	broad.mit.edu	37	chr6	27369165	27369165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtacaaatgtaatgactgtgGaaaagccttctgtcagagtt	13	12	10	6	0	2	2	1	1	1	1	2	3	2	3	1	1	2	3	1	1	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:27369165G>A	ENST00000244576.4	+	3	1561	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						AATGACTGTGGAAAAGCCTTC	0.403													27	17					0	0	0	0	A	27369165	G	A	27369165	3	1	328	1	0	0	0	0	1	0	0	0	17974	1174	41	2	1018	2	ZNF391	6	27369165	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	985126	27369165	143745902	876	59090											
PGBD1	84547	broad.mit.edu	37	chr6	28254883	28254883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccccacggatcagctcatCtccaggaaaaaaaccccaga	14	6	6	15	1	3	1	2	0	1	1	5	3	4	3	5	2	2	1	5	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:28254883C>T	ENST00000405948.2	+	4	1000	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F	PGBD1_ENST00000259883.3_Missense_Mutation_p.L194F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	194					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATCAGCTCATCTCCAGGAAAA	0.512													26	16					0	0	0	0	T	28254883	C	T	28254883	3	4	328	1	0	0	0	0	1	0	0	0	11852	913	32	2	590	2	PGBD1	6	28254883	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	885718	28254883	142860184	877	59091											
SCAND3	114821	broad.mit.edu	37	chr6	28541289	28541289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actctttctttcaaagaattCttttggttgtgaacttattt	9	21	5	6	0	4	2	1	1	3	1	4	2	4	2	0	1	1	1	0	1	4	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:28541289C>T	ENST00000452236.2	-	4	2994	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	793					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcaaagaattcttttggttgt	0.323													25	16					0	0	0	0	T	28541289	C	T	28541289	3	4	328	1	0	0	0	0	1	0	0	0	13962	922	32	2	1604	2	SCAND3	6	28541289	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	286406	28541289	142573778	878	59092											
SCAND3	114821	broad.mit.edu	37	chr6	28543894	28543894	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatgctttgagacatcatGgaaaaccacaaaaatgaccc	16	7	6	12	0	1	2	1	2	0	1	1	4	1	3	3	1	2	1	3	1	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:28543894G>A	ENST00000452236.2	-	3	1205	c.588C>T	c.(586-588)tcC>tcT	p.S196S	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	196					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GAGACATCATGGAAAACCACA	0.338													16	14					0	0	0	0	A	28543894	G	A	28543894	2	1	328	1	0	0	0	0	0	0	0	1	13962	1335	47	4		4	SCAND3	6	28543894	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2605	28543894	142571173	879	59093											
ZNF311	282890	broad.mit.edu	37	chr6	28964205	28964205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgtttcccattgattctCtaatttgacatcctgaacac	11	15	5	10	0	1	4	0	3	1	1	4	4	3	4	2	0	1	1	2	0	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:28964205C>T	ENST00000377179.3	-	7	1086	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CATTGATTCTCTAATTTGACA	0.398													41	22					0	0	0	0	T	28964205	C	T	28964205	3	4	328	1	0	0	0	0	1	0	0	0	17929	922	32	2	1430	2	ZNF311	6	28964205	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	420311	28964205	142150862	880	59094											
TRIM39	56658	broad.mit.edu	37	chr6	30309967	30309967	+	Silent	SNP	C	C	T																															aaactttggcccctcttctaCccaggcatccgggctggacg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:30309967C>T	ENST00000376659.5	+	8	1996	c.1398C>T	c.(1396-1398)taC>taT	p.Y466Y	TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000396547.1_Silent_p.Y496Y|TRIM39_ENST00000540416.1_Silent_p.Y466Y|TRIM39_ENST00000396551.3_Silent_p.Y466Y|TRIM39_ENST00000376656.4_Silent_p.Y496Y|TRIM39_ENST00000396548.1_Silent_p.Y466Y	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						CCCTCTTCTACCCAGGCATCC	0.522													31	13					0	0	0	0	T	30309967	C	T	30309967	2	4	328	1	0	0	0	0	0	0	0	1	16608	518	18	4		4	TRIM39	6	30309967	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1345762	30309967	140805100	881	59095	550	2									
TRIM39	56658	broad.mit.edu	37	chr6	30309968	30309968	+	Missense_Mutation	SNP	C	C	T																															aactttggcccctcttctacCcaggcatccgggctggacgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:30309968C>T	ENST00000376659.5	+	8	1997	c.1399C>T	c.(1399-1401)Cca>Tca	p.P467S	TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000396547.1_Missense_Mutation_p.P497S|TRIM39_ENST00000540416.1_Missense_Mutation_p.P467S|TRIM39_ENST00000396551.3_Missense_Mutation_p.P467S|TRIM39_ENST00000376656.4_Missense_Mutation_p.P497S|TRIM39_ENST00000396548.1_Missense_Mutation_p.P467S	NM_172016.2	NP_742013.1			tripartite motif containing 39									p.P497S(1)		ovary(3)	3						CCTCTTCTACCCAGGCATCCG	0.527													31	14					0	0	0	0	T	30309968	C	T	30309968	3	4	328	1	0	0	0	0	1	0	0	0	16608	623	22	4	1515	4	TRIM39	6	30309968	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	30309968	140805099	882	59096	550	2									
MDC1	9656	broad.mit.edu	37	chr6	30671662	30671662	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctcaggaatggctgtaagGgattcagctgctctcactgc	8	10	13	10	0	3	0	3	0	1	0	4	2	3	2	0	4	3	5	0	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:30671662G>A	ENST00000376406.3	-	10	5945	c.5298C>T	c.(5296-5298)tcC>tcT	p.S1766S	MDC1_ENST00000376405.2_Silent_p.S1502S|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1766	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGGCTGTAAGGGATTCAGCTG	0.532								Other conserved DNA damage response genes					30	24					0	0	0	0	A	30671662	G	A	30671662	2	1	328	1	0	0	0	0	0	0	0	1	9472	1219	43	4		4	MDC1	6	30671662	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	361694	30671662	140443405	883	59097											
TNF	7124	broad.mit.edu	37	chr6	31544999	31544999	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctggtggtgccatcagaGggcctgtacctcatctactc	7	10	11	13	0	3	1	2	0	1	1	4	1	3	1	3	3	4	2	3	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31544999G>A	ENST00000449264.2	+	4	562	c.387G>A	c.(385-387)gaG>gaA	p.E129E		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	129					activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	TGCCATCAGAGGGCCTGTACC	0.632									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				4	64					0	0	0	0	A	31544999	G	A	31544999	2	1	328	1	0	0	0	0	0	0	0	1	16365	991	35	4		4	TNF	6	31544999	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	873337	31544999	139570068	884	59098											
C6orf25	80739	broad.mit.edu	37	chr6	31692569	31692569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaaaccgagccccagaGgccagtaaaggaggaagagc	15	3	14	9	1	0	3	0	1	0	2	0	6	0	5	4	3	3	1	4	3	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31692569G>A	ENST00000480039.1	+	5	609	c.569G>A	c.(568-570)aGg>aAg	p.R190K	C6orf25_ENST00000375809.3_Silent_p.E196E|C6orf25_ENST00000375810.4_Silent_p.E196E|C6orf25_ENST00000375805.2_Missense_Mutation_p.R166K			O95866	G6B_HUMAN	chromosome 6 open reading frame 25	190						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						GAGCCCCAGAGGCCAGTAAAG	0.572													3	25					0	0	0	0	A	31692569	G	A	31692569	3	1	328	1	0	0	0	0	1	0	0	0	2381	1000	35	4	606	4	C6orf25	6	31692569	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	147570	31692569	139422498	885	59099											
HSPA1L	3305	broad.mit.edu	37	chr6	31778766	31778766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggattttagccttatcCatcttggcatcccgaagcgc	8	13	8	12	2	2	0	1	0	1	0	4	2	4	1	3	2	2	1	3	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31778766C>T	ENST00000375654.4	-	2	1173	c.984G>A	c.(982-984)atG>atA	p.M328I	HSPA1L_ENST00000417199.3_Missense_Mutation_p.M328I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	328					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TAGCCTTATCCATCTTGGCAT	0.502													21	12					0	0	0	0	T	31778766	C	T	31778766	3	4	328	1	0	0	0	0	1	0	0	0	7462	594	21	4	945	4	HSPA1L	6	31778766	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	86197	31778766	139336301	886	59100											
CFB	629	broad.mit.edu	37	chr6	31910823	31910823	+	Missense_Mutation	SNP	C	C	T																															gaaggatggtgagaggcatgCcttcattctgcaggacacaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31910823C>T	ENST00000556679.1	+	7	903	c.848C>T	c.(847-849)gCc>gTc	p.A283V	C2_ENST00000469372.1_Missense_Mutation_p.A190V|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.A304V|C2_ENST00000452323.2_Missense_Mutation_p.A222V|CFB_ENST00000456570.1_Missense_Mutation_p.A283V|C2_ENST00000299367.5_Missense_Mutation_p.A436V			P00751	CFAB_HUMAN	complement factor B	452	VWFA.				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						GAGAGGCATGCCTTCATTCTG	0.552													89	73					0	0	0	0	T	31910823	C	T	31910823	3	4	328	1	0	0	0	0	1	0	0	0	3307	739	26	4		4	CFB	6	31910823	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	132057	31910823	139204244	887	59101	551	2									
CFB	629	broad.mit.edu	37	chr6	31910824	31910824	+	Silent	SNP	C	C	T																															aaggatggtgagaggcatgcCttcattctgcaggacacaaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31910824C>T	ENST00000556679.1	+	7	904	c.849C>T	c.(847-849)gcC>gcT	p.A283A	C2_ENST00000469372.1_Silent_p.A190A|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Silent_p.A304A|C2_ENST00000452323.2_Silent_p.A222A|CFB_ENST00000456570.1_Silent_p.A283A|C2_ENST00000299367.5_Silent_p.A436A			P00751	CFAB_HUMAN	complement factor B	452	VWFA.				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						AGAGGCATGCCTTCATTCTGC	0.557													91	73					0	0	0	0	T	31910824	C	T	31910824	2	4	328	1	0	0	0	0	0	0	0	1	3307	668	24	4		4	CFB	6	31910824	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	31910824	139204243	888	59102	551	2									
CFB	629	broad.mit.edu	37	chr6	31917212	31917212	+	Missense_Mutation	SNP	G	G	A																															ctcagatgtctatgtgtttgGggtcgggcctttggtgaacc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31917212G>A	ENST00000556679.1	+	22	2847	c.2792G>A	c.(2791-2793)gGg>gAg	p.G931E	CFB_ENST00000477310.1_Missense_Mutation_p.G780E|CFB_ENST00000425368.2_Missense_Mutation_p.G429E|CFB_ENST00000456570.1_Missense_Mutation_p.G931E|CFB_ENST00000497841.1_3'UTR			P00751	CFAB_HUMAN	complement factor B	429					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						TATGTGTTTGGGGTCGGGCCT	0.478													23	17					0	0	0	0	A	31917212	G	A	31917212	3	1	328	1	0	0	0	0	1	0	0	0	3307	1232	43	4	1324	4	CFB	6	31917212	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6388	31917212	139197855	889	59103	552	2									
CFB	629	broad.mit.edu	37	chr6	31917213	31917213	+	Silent	SNP	G	G	A																															tcagatgtctatgtgtttggGgtcgggcctttggtgaacca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31917213G>A	ENST00000556679.1	+	22	2848	c.2793G>A	c.(2791-2793)ggG>ggA	p.G931G	CFB_ENST00000477310.1_Silent_p.G780G|CFB_ENST00000425368.2_Silent_p.G429G|CFB_ENST00000456570.1_Silent_p.G931G|CFB_ENST00000497841.1_3'UTR			P00751	CFAB_HUMAN	complement factor B	429					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						ATGTGTTTGGGGTCGGGCCTT	0.478													23	17					0	0	0	0	A	31917213	G	A	31917213	2	1	328	1	0	0	0	0	0	0	0	1	3307	1219	43	4		4	CFB	6	31917213	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	31917213	139197854	890	59104	552	2									
STK19	8859	broad.mit.edu	37	chr6	31940120	31940120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacgtcactgctctgcgccgGaagaccctattttcaggttc	7	12	9	13	3	3	1	2	0	1	1	4	2	3	2	2	2	3	2	2	2	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31940120G>A	ENST00000375331.2	+	2	428	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	STK19_ENST00000375333.2_Missense_Mutation_p.E88K	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	88						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E88K(1)		skin(5)|upper_aerodigestive_tract(2)	7						CTCTGCGCCGGAAGACCCTAT	0.582													40	26					0	0	0	0	A	31940120	G	A	31940120	3	1	328	1	0	0	0	0	1	0	0	0	15382	1175	41	2	268	2	STK19	6	31940120	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	22907	31940120	139174947	891	59105											
TNXB	7148	broad.mit.edu	37	chr6	32017095	32017095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcgctgcccctcgtggaGgccgtacagatgcatcttgt	6	9	12	14	4	1	1	0	0	1	1	2	2	1	2	3	2	3	3	3	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:32017095G>A	ENST00000375244.3	-	28	9910	c.9709C>T	c.(9709-9711)Ctc>Ttc	p.L3237F	TNXB_ENST00000375247.2_Missense_Mutation_p.L3235F			P22105	TENX_HUMAN	tenascin XB	3282	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCTCGTGGAGGCCGTACAGA	0.697													18	10					0	0	0	0	A	32017095	G	A	32017095	3	1	328	1	0	0	0	0	1	0	0	0	16440	1000	35	4	5078	4	TNXB	6	32017095	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	76975	32017095	139097972	892	59106											
TNXB	7148	broad.mit.edu	37	chr6	32036476	32036476	+	Missense_Mutation	SNP	C	C	T																															aggttctgaaggcttctcctCctccgggactggacagagac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:32036476C>T	ENST00000375244.3	-	17	6112	c.5911G>A	c.(5911-5913)Gag>Aag	p.E1971K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1971K			P22105	TENX_HUMAN	tenascin XB	2053	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCTTCTCCTCCTCCGGGACT	0.632													29	19					0	0	0	0	T	32036476	C	T	32036476	3	4	328	1	0	0	0	0	1	0	0	0	16440	864	30	2	8914	2	TNXB	6	32036476	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	19381	32036476	139078591	893	59107	553	2									
TNXB	7148	broad.mit.edu	37	chr6	32036477	32036477	+	Silent	SNP	C	C	T																															ggttctgaaggcttctcctcCtccgggactggacagagaca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:32036477C>T	ENST00000375244.3	-	17	6111	c.5910G>A	c.(5908-5910)gaG>gaA	p.E1970E	TNXB_ENST00000375247.2_Silent_p.E1970E			P22105	TENX_HUMAN	tenascin XB	2052	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTTCTCCTCCTCCGGGACTG	0.632													27	19					0	0	0	0	T	32036477	C	T	32036477	2	4	328	1	0	0	0	0	0	0	0	1	16440	680	24	4		4	TNXB	6	32036477	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	32036477	139078590	894	59108	553	2									
GPSM3	63940	broad.mit.edu	37	chr6	32159644	32159644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccaggtccagaaggagttCagtctgcagggagagcaggg	11	5	16	9	0	2	2	1	0	1	2	3	4	3	3	2	4	2	3	2	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:32159644C>T	ENST00000375040.3	-	3	579	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	GPSM3_ENST00000487761.1_Missense_Mutation_p.E60K|GPSM3_ENST00000375043.3_Missense_Mutation_p.E63K	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	63	GoLoco 1.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						AGAAGGAGTTCAGTCTGCAGG	0.672													19	12					0	0	0	0	T	32159644	C	T	32159644	3	4	328	1	0	0	0	0	1	0	0	0	6786	835	29	2	303	2	GPSM3	6	32159644	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	123167	32159644	138955423	895	59109											
B3GALT4	8705	broad.mit.edu	37	chr6	33245462	33245462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacctgaaccagagaaacgCcattcgggcttcgtggggcg	10	6	14	11	4	0	2	0	1	0	1	2	4	0	2	3	3	3	1	3	3	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:33245462C>T	ENST00000451237.1	+	1	546	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	89					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CAGAGAAACGCCATTCGGGCT	0.657													5	94					0	0	0	0	T	33245462	C	T	33245462	3	4	328	1	0	0	0	0	1	0	0	0	1253	739	26	4	268	4	B3GALT4	6	33245462	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1085818	33245462	137869605	896	59110											
KIFC1	3833	broad.mit.edu	37	chr6	33371888	33371888	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacggaggggactgatgtcCcaactagaggagaaggaggt	13	5	17	6	1	0	3	0	1	0	2	1	8	1	6	1	6	2	0	1	6	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:33371888C>T	ENST00000428849.2	+	6	1188	c.738C>T	c.(736-738)tcC>tcT	p.S246S		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	246					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GACTGATGTCCCAACTAGAGG	0.567													5	28					0	0	0	0	T	33371888	C	T	33371888	2	4	328	1	0	0	0	0	0	0	0	1	8363	610	22	4		4	KIFC1	6	33371888	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	126426	33371888	137743179	897	59111											
ITPR3	3710	broad.mit.edu	37	chr6	33658768	33658768	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acccgcaatggccgctccatCctgctgacagccctgctggc	6	7	10	18	2	0	1	0	1	0	0	2	1	2	1	5	2	3	4	5	2	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:33658768C>T	ENST00000374316.5	+	53	8167	c.7107C>T	c.(7105-7107)atC>atT	p.I2369I	ITPR3_ENST00000605930.1_Silent_p.I2369I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2369					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCCGCTCCATCCTGCTGACAG	0.572													4	61					0	0	0	0	T	33658768	C	T	33658768	2	4	328	1	0	0	0	0	0	0	0	1	7975	845	30	2		2	ITPR3	6	33658768	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	286880	33658768	137456299	898	59112											
SPDEF	25803	broad.mit.edu	37	chr6	34512014	34512014	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccaggggccttggctgcCcagctgctgtcctcagggta	4	8	14	15	0	1	0	1	0	0	0	2	0	2	0	5	4	3	4	5	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:34512014C>T	ENST00000374037.3	-	2	633	c.219G>A	c.(217-219)tgG>tgA	p.W73*	SPDEF_ENST00000544425.1_Nonsense_Mutation_p.W73*	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	73					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCTTGGCTGCCCAGCTGCTGT	0.672													26	8					0	0	0	0	T	34512014	C	T	34512014	4	4	328	1	0	0	0	0	0	1	0	0	15116	624	22	4	808	4	SPDEF	6	34512014	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	853246	34512014	136603053	899	59113											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34838701	34838701	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgggccttcgctttgaGgtggggcctggagcagctgt	3	11	18	9	1	0	1	0	1	0	0	1	2	0	2	2	5	2	4	2	5	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:34838701G>A	ENST00000192788.5	+	18	3960	c.3789G>A	c.(3787-3789)gaG>gaA	p.E1263E	UHRF1BP1_ENST00000452449.2_Silent_p.E1263E	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1263										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTCGCTTTGAGGTGGGGCCTG	0.512													21	19					0	0	0	0	A	34838701	G	A	34838701	2	1	328	1	0	0	0	0	0	0	0	1	17064	991	35	4		4	UHRF1BP1	6	34838701	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	326687	34838701	136276366	900	59114											
PNPLA1	285848	broad.mit.edu	37	chr6	36275465	36275465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcccaagacattcgggatCcaaaaaaccaagcagcaaag	17	5	7	12	1	0	1	0	0	0	1	3	2	2	2	3	1	3	2	3	1	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:36275465C>T	ENST00000394571.2	+	8	1571	c.1571C>T	c.(1570-1572)tCc>tTc	p.S524F	PNPLA1_ENST00000388715.3_Missense_Mutation_p.S429F|PNPLA1_ENST00000312917.5_Missense_Mutation_p.S438F	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	524					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CATTCGGGATCCAAAAAACCA	0.473													4	18					0	0	0	0	T	36275465	C	T	36275465	3	4	328	1	0	0	0	0	1	0	0	0	12236	855	30	2	1628	2	PNPLA1	6	36275465	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1436764	36275465	134839602	901	59115											
DNAH8	1769	broad.mit.edu	37	chr6	38897329	38897329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attttcgcacacacttggagGacagcctttccttgggccga	8	11	10	12	2	0	0	0	0	0	0	2	3	1	2	3	3	1	1	3	3	0	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:38897329G>A	ENST00000359357.3	+	73	10764	c.10510G>A	c.(10510-10512)Gac>Aac	p.D3504N	RP1-207H1.3_ENST00000453417.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3468N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3721N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACACTTGGAGGACAGCCTTTC	0.408													47	32					0	0	0	0	A	38897329	G	A	38897329	3	1	328	1	0	0	0	0	1	0	0	0	4643	1174	41	2	10792	2	DNAH8	6	38897329	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2621864	38897329	132217738	902	59116											
KIF6	221458	broad.mit.edu	37	chr6	39507891	39507891	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttctgggtttcctaggcgGaagggtgggctctgggactg	4	12	17	8	1	3	0	0	0	3	0	4	2	4	2	1	6	0	2	1	6	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:39507891G>A	ENST00000287152.7	-	13	1627	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373215.3_Silent_p.F511F|KIF6_ENST00000373216.3_Silent_p.F511F|KIF6_ENST00000373213.4_Silent_p.F350F	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	511					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTCCTAGGCGGAAGGGTGGGC	0.498													9	124					0	0	0	0	A	39507891	G	A	39507891	2	1	328	1	0	0	0	0	0	0	0	1	8359	1165	41	2		2	KIF6	6	39507891	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	610562	39507891	131607176	903	59117											
TSPO2	222642	broad.mit.edu	37	chr6	41011350	41011350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggcttggggtggcccctGgccctgcctcttggcctcta	1	10	16	14	0	2	0	0	0	2	0	2	0	2	0	5	7	1	1	5	7	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:41011350G>A	ENST00000373161.1	+	3	473	c.228G>A	c.(226-228)ctG>ctA	p.L76L	TSPO2_ENST00000470917.1_Silent_p.L76L|TSPO2_ENST00000373158.2_Intron	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	76					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGTGGCCCCTGGCCCTGCCTC	0.577													6	70					0	0	0	0	A	41011350	G	A	41011350	2	1	328	1	0	0	0	0	0	0	0	1	16751	1335	47	4		4	TSPO2	6	41011350	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1503459	41011350	130103717	904	59118											
TRERF1	55809	broad.mit.edu	37	chr6	42236688	42236688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagctggtttggacagcccaCcagtgaaaccagggtgaggc	10	6	15	10	0	0	2	0	2	0	0	0	4	0	3	3	4	3	2	3	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:42236688C>T	ENST00000541110.1	-	5	1209	c.641G>A	c.(640-642)gGt>gAt	p.G214D	TRERF1_ENST00000354325.2_Missense_Mutation_p.G214D|TRERF1_ENST00000372917.4_Missense_Mutation_p.G214D|TRERF1_ENST00000340840.2_Missense_Mutation_p.G214D|TRERF1_ENST00000372922.4_Missense_Mutation_p.G214D			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	214	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGACAGCCCACCAGTGAAACC	0.632													4	49					0	0	0	0	T	42236688	C	T	42236688	3	4	328	1	0	0	0	0	1	0	0	0	16570	507	18	4	3017	4	TRERF1	6	42236688	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1225338	42236688	128878379	905	59119											
UBR2	23304	broad.mit.edu	37	chr6	42615901	42615901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaatcgaagcagttgccCatttcaagtgagtttacttc	10	14	9	8	1	1	1	1	1	0	0	3	2	1	1	1	0	3	4	1	0	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:42615901C>T	ENST00000372899.1	+	22	2713	c.2455C>T	c.(2455-2457)Cat>Tat	p.H819Y	UBR2_ENST00000372883.3_Missense_Mutation_p.H323Y|UBR2_ENST00000372901.1_Missense_Mutation_p.H819Y	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	819					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGCAGTTGCCCATTTCAAGTG	0.353													25	33					0	0	0	0	T	42615901	C	T	42615901	3	4	328	1	0	0	0	0	1	0	0	0	16998	594	21	4	2687	4	UBR2	6	42615901	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	379213	42615901	128499166	906	59120											
TTBK1	84630	broad.mit.edu	37	chr6	43227345	43227345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtgcccccccagactcccCcacaaccccagtccgttctc	6	6	6	23	2	1	1	0	0	1	1	4	1	3	1	8	0	2	1	8	0	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:43227345C>T	ENST00000259750.4	+	12	1408	c.1325C>T	c.(1324-1326)cCc>cTc	p.P442L	TTBK1_ENST00000304139.5_Missense_Mutation_p.P391L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	442						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAGACTCCCCCACAACCCCA	0.667													6	6					0	0	0	0	T	43227345	C	T	43227345	3	4	328	1	0	0	0	0	1	0	0	0	16772	623	22	4	1367	4	TTBK1	6	43227345	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	611444	43227345	127887722	907	59121											
ZNF318	24149	broad.mit.edu	37	chr6	43316087	43316087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaggaggagtttgagaacGatgacactttttctgggctc	9	12	14	6	1	1	2	0	2	1	1	2	7	1	5	0	4	1	2	0	4	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:43316087G>A	ENST00000361428.2	-	6	3124	c.3047C>T	c.(3046-3048)tCg>tTg	p.S1016L	ZNF318_ENST00000318149.3_Missense_Mutation_p.S1016L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1016					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GTTTGAGAACGATGACACTTT	0.378													66	78					0	0	0	0	A	43316087	G	A	43316087	3	1	328	1	0	0	0	0	1	0	0	0	17931	1059	37	1	3812	1	ZNF318	6	43316087	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	88742	43316087	127798980	908	59122											
ZNF318	24149	broad.mit.edu	37	chr6	43316160	43316160	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctctctactgtcacttaAagacttctgggatttatcga	10	14	8	9	1	3	1	1	0	2	1	5	3	3	2	0	2	1	1	0	2	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:43316160A>T	ENST00000361428.2	-	6	3051	c.2974T>A	c.(2974-2976)Tta>Ata	p.L992I	ZNF318_ENST00000318149.3_Missense_Mutation_p.L992I	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	992					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGTCACTTAAAGACTTCTGG	0.448													40	111					0	0	0	0	T	43316160	A	T	43316160	3	4	328	1	0	0	0	0	1	0	0	0	17931	11	1	5	3885	5	ZNF318	6	43316160	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	73	43316160	127798907	909	59123											
CAPN11	11131	broad.mit.edu	37	chr6	44141076	44141076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaacctgctcaggctcCttaggaaggccgtggagcga	9	7	13	12	2	2	1	2	0	0	1	3	4	3	3	3	4	3	2	3	4	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:44141076C>T	ENST00000542245.1	+	7	822	c.784C>T	c.(784-786)Ctt>Ttt	p.L262F	CAPN11_ENST00000398776.1_Missense_Mutation_p.L262F			Q9UMQ6	CAN11_HUMAN	calpain 11	262	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTCAGGCTCCTTAGGAAGGC	0.592													6	28					0	0	0	0	T	44141076	C	T	44141076	3	4	328	1	0	0	0	0	1	0	0	0	2649	681	24	4	810	4	CAPN11	6	44141076	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	824916	44141076	126973991	910	59124											
SLC35B2	347734	broad.mit.edu	37	chr6	44224578	44224578	+	Silent	SNP	G	G	A																															agtctccccacctgcccctaGggaggggaacgcagccagca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:44224578G>A	ENST00000393812.3	-	2	192	c.49C>T	c.(49-51)Cta>Tta	p.L17L	SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_5'UTR|SLC35B2_ENST00000393810.1_Silent_p.L17L|SLC35B2_ENST00000537814.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	17					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTGCCCCTAGGGAGGGGAAC	0.602													9	37					0	0	0	0	A	44224578	G	A	44224578	2	1	328	1	0	0	0	0	0	0	0	1	14664	991	35	4		4	SLC35B2	6	44224578	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	83502	44224578	126890489	911	59125	554	2									
SLC35B2	347734	broad.mit.edu	37	chr6	44224579	44224579	+	Silent	SNP	G	G	A																															gtctccccacctgcccctagGgaggggaacgcagccagcac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:44224579G>A	ENST00000393812.3	-	2	191	c.48C>T	c.(46-48)tcC>tcT	p.S16S	SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_5'UTR|SLC35B2_ENST00000393810.1_Silent_p.S16S|SLC35B2_ENST00000537814.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	16					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCCCCTAGGGAGGGGAACG	0.607													8	38					0	0	0	0	A	44224579	G	A	44224579	2	1	328	1	0	0	0	0	0	0	0	1	14664	1219	43	4		4	SLC35B2	6	44224579	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	44224579	126890488	912	59126	554	2									
TCTE1	202500	broad.mit.edu	37	chr6	44254208	44254208	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagccagtggtaggtcaggGgacaggtggttcaggacctt	9	8	16	8	0	2	0	2	0	0	0	2	2	2	2	2	7	1	2	2	7	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:44254208G>A	ENST00000371505.4	-	3	461	c.339C>T	c.(337-339)tcC>tcT	p.S113S	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	113										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTAGGTCAGGGGACAGGTGGT	0.597													56	73					0	0	0	0	A	44254208	G	A	44254208	2	1	328	1	0	0	0	0	0	0	0	1	15811	1219	43	4		4	TCTE1	6	44254208	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	29629	44254208	126860859	913	59127											
RCAN2	10231	broad.mit.edu	37	chr6	46216488	46216488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtagagctttaattttttcCctctgaattgggtttcatga	9	18	8	6	0	2	3	1	2	1	1	3	3	3	3	1	1	1	3	1	1	3	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:46216488C>T	ENST00000371374.1	-	3	562	c.371G>A	c.(370-372)gGg>gAg	p.G124E	RCAN2_ENST00000330430.6_Missense_Mutation_p.G78E|RCAN2_ENST00000405162.1_Missense_Mutation_p.G124E|RCAN2_ENST00000306764.7_Missense_Mutation_p.G124E	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	78					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TAATTTTTTCCCTCTGAATTG	0.348													3	23					0	0	0	0	T	46216488	C	T	46216488	3	4	328	1	0	0	0	0	1	0	0	0	13251	623	22	4	372	4	RCAN2	6	46216488	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1962280	46216488	124898579	914	59128											
TDRD6	221400	broad.mit.edu	37	chr6	46658596	46658596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctttcaatgaatttataGataatgcatggcaaaaaaat	19	12	6	4	0	1	2	1	1	0	1	1	2	1	2	0	1	2	3	0	1	9	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:46658596G>A	ENST00000544460.1	+	1	2985	c.2731G>A	c.(2731-2733)Gat>Aat	p.D911N	TDRD6_ENST00000316081.6_Missense_Mutation_p.D911N	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	911					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGAATTTATAGATAATGCATG	0.333													40	34					0	0	0	0	A	46658596	G	A	46658596	3	1	328	1	0	0	0	0	1	0	0	0	15828	942	33	2	2733	2	TDRD6	6	46658596	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	442108	46658596	124456471	915	59129											
TFAP2D	83741	broad.mit.edu	37	chr6	50718994	50718994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggatcctccagacccactCcaattctagaccttgacatc	10	10	6	15	0	1	3	0	1	1	2	5	4	4	4	5	1	0	0	5	1	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:50718994C>T	ENST00000008391.3	+	7	1324	c.1096C>T	c.(1096-1098)Cca>Tca	p.P366S		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	366	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CAGACCCACTCCAATTCTAGA	0.373													5	48					0	0	0	0	T	50718994	C	T	50718994	3	4	328	1	0	0	0	0	1	0	0	0	15884	855	30	2	1122	2	TFAP2D	6	50718994	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4060398	50718994	120396073	916	59130											
PKHD1	5314	broad.mit.edu	37	chr6	51524307	51524307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacatacaagaggttatcCatgatgttgaaatagttggc	15	11	9	6	0	0	3	0	2	0	1	1	3	1	3	1	2	2	3	1	2	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:51524307C>T	ENST00000371117.3	-	61	10892	c.10617G>A	c.(10615-10617)atG>atA	p.M3539I		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3539					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGAGGTTATCCATGATGTTGA	0.443													9	31					0	0	0	0	T	51524307	C	T	51524307	3	4	328	1	0	0	0	0	1	0	0	0	12043	594	21	4	1635	4	PKHD1	6	51524307	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	805313	51524307	119590760	917	59131											
PKHD1	5314	broad.mit.edu	37	chr6	51524373	51524373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgactgaaccagagtGggtggaataaaactttcccc	13	8	11	9	0	0	3	0	2	0	1	1	5	1	4	3	2	3	1	3	2	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:51524373G>A	ENST00000371117.3	-	61	10826	c.10551C>T	c.(10549-10551)ccC>ccT	p.P3517P		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3517					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAACCAGAGTGGGTGGAATAA	0.443													14	26					0	0	0	0	A	51524373	G	A	51524373	2	1	328	1	0	0	0	0	0	0	0	1	12043	1335	47	4		4	PKHD1	6	51524373	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	66	51524373	119590694	918	59132											
PKHD1	5314	broad.mit.edu	37	chr6	51720722	51720722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgatccaaaggttctcaGattgcaatgagtaggtctct	10	14	10	7	0	2	3	1	2	2	1	5	3	3	3	1	2	1	4	1	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:51720722G>A	ENST00000371117.3	-	49	8155	c.7880C>T	c.(7879-7881)tCt>tTt	p.S2627F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2627F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2627					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGGTTCTCAGATTGCAATGA	0.408													17	80					0	0	0	0	A	51720722	G	A	51720722	3	1	328	1	0	0	0	0	1	0	0	0	12043	942	33	2	4459	2	PKHD1	6	51720722	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	196349	51720722	119394345	919	59133											
PKHD1	5314	broad.mit.edu	37	chr6	51751940	51751940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaaagttacctggtacaaGaatgtgcaatgttctgagtg	12	11	10	8	0	1	2	0	1	1	1	1	2	1	2	2	1	3	4	2	1	6	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:51751940G>A	ENST00000371117.3	-	44	7375	c.7100C>T	c.(7099-7101)tCt>tTt	p.S2367F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2367F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2367					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTGGTACAAGAATGTGCAAT	0.413													11	40					0	0	0	0	A	51751940	G	A	51751940	3	1	328	1	0	0	0	0	1	0	0	0	12043	942	33	2	5259	2	PKHD1	6	51751940	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	31218	51751940	119363127	920	59134											
PKHD1	5314	broad.mit.edu	37	chr6	51924787	51924787	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggctatctgcctgaatcCagaaagtgtaattatttgtc	10	15	8	8	0	1	2	0	1	1	1	3	2	2	2	2	1	1	2	2	1	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:51924787C>T	ENST00000371117.3	-	15	1447	c.1172G>A	c.(1171-1173)tGg>tAg	p.W391*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.W391*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	391					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGCCTGAATCCAGAAAGTGTA	0.438													28	28					0	0	0	0	T	51924787	C	T	51924787	4	4	328	1	0	0	0	0	0	1	0	0	12043	595	21	4	11303	4	PKHD1	6	51924787	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	172847	51924787	119190280	921	59135											
HCRTR2	3062	broad.mit.edu	37	chr6	55147226	55147226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacactcccagcagccaatGgagcaggaccacttcaaaac	14	4	8	15	0	1	0	1	0	0	0	2	2	2	2	3	2	4	3	3	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:55147226G>A	ENST00000370862.3	+	7	1645	c.1309G>A	c.(1309-1311)Gga>Aga	p.G437R		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	437					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGCAGCCAATGGAGCAGGACC	0.383													9	16					0	0	0	0	A	55147226	G	A	55147226	3	1	328	1	0	0	0	0	1	0	0	0	7052	1349	47	4	1335	4	HCRTR2	6	55147226	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3222439	55147226	115967841	922	59136											
COL21A1	81578	broad.mit.edu	37	chr6	56035551	56035551	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaaggtaactgctatttGtggccttccatcaatagtta	11	16	7	7	0	1	0	1	0	0	0	2	0	2	0	2	2	2	3	2	2	6	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:56035551G>C	ENST00000244728.5	-	5	1319	c.922C>G	c.(922-924)Caa>Gaa	p.Q308E	COL21A1_ENST00000370819.1_Missense_Mutation_p.Q308E|COL21A1_ENST00000535941.1_Missense_Mutation_p.Q308E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	308	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACTGCTATTTGTGGCCTTCCA	0.348													3	11					0	0	0	0	C	56035551	G	C	56035551	3	2	328	1	0	0	0	0	1	0	0	0	3710	1386	48	4	2055	4	COL21A1	6	56035551	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	888325	56035551	115079516	923	59137											
DST	667	broad.mit.edu	37	chr6	56351926	56351926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacagattttccacatatgGtatcccatttgtctctgagt	9	15	6	11	0	1	2	0	1	1	1	4	2	3	2	3	1	0	1	3	1	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:56351926G>A	ENST00000370754.5	-	87	20929	c.20930C>T	c.(20929-20931)aCc>aTc	p.T6977I	DST_ENST00000421834.2_Missense_Mutation_p.T4711I|DST_ENST00000244364.6_Missense_Mutation_p.T4385I|DST_ENST00000446842.2_Missense_Mutation_p.T6473I|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.T4602I|DST_ENST00000370769.4_Missense_Mutation_p.T6799I|DST_ENST00000361203.3_Missense_Mutation_p.T6688I			Q03001	DYST_HUMAN	dystonin	6797					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCACATATGGTATCCCATTT	0.438													15	14					0	0	0	0	A	56351926	G	A	56351926	3	1	328	1	0	0	0	0	1	0	0	0	4819	1261	44	4	2429	4	DST	6	56351926	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	316375	56351926	114763141	924	59138											
DST	667	broad.mit.edu	37	chr6	56494202	56494202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactcatcctctaaggcatGgaatacctgtctcttttcat	10	14	5	12	0	4	0	2	0	2	0	6	1	5	1	2	2	2	1	2	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:56494202G>A	ENST00000370754.5	-	31	4221	c.4222C>T	c.(4222-4224)Cat>Tat	p.H1408Y	DST_ENST00000421834.2_Missense_Mutation_p.H1230Y|DST_ENST00000244364.6_Missense_Mutation_p.H904Y|DST_ENST00000370765.6_Missense_Mutation_p.H904Y|DST_ENST00000446842.2_Missense_Mutation_p.H904Y|DST_ENST00000312431.6_Missense_Mutation_p.H1230Y|DST_ENST00000518935.1_Missense_Mutation_p.H904Y|DST_ENST00000370788.2_Missense_Mutation_p.H1230Y|DST_ENST00000370769.4_Missense_Mutation_p.H1230Y|DST_ENST00000361203.3_Missense_Mutation_p.H1230Y			Q03001	DYST_HUMAN	dystonin	1230					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTAAGGCATGGAATACCTGT	0.338													15	52					0	0	0	0	A	56494202	G	A	56494202	3	1	328	1	0	0	0	0	1	0	0	0	4819	1348	47	4	17713	4	DST	6	56494202	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	142276	56494202	114620865	925	59139											
ZNF451	26036	broad.mit.edu	37	chr6	57012688	57012688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccggcaaatagttctcCgaggggtaaatggcaatgcc	10	9	11	11	2	1	0	0	0	1	0	3	1	2	0	4	4	1	4	4	4	5	4	rs143895065	by1000genomes	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:57012688C>T	ENST00000370706.4	+	10	2049	c.1805C>T	c.(1804-1806)cCg>cTg	p.P602L	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.P602L|ZNF451_ENST00000491832.2_Missense_Mutation_p.P602L	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AATAGTTCTCCGAGGGGTAAA	0.408													50	55					0	0	0	0	T	57012688	C	T	57012688	3	4	328	1	0	0	0	0	1	0	0	0	18017	652	23	1	1843	1	ZNF451	6	57012688	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	518486	57012688	114102379	926	59140											
COL19A1	1310	broad.mit.edu	37	chr6	70589476	70589476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgagactcactggccCttggaaactttggctttgga	10	11	10	10	0	1	1	1	1	0	1	1	4	1	3	1	4	1	1	1	4	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:70589476C>T	ENST00000322773.4	+	2	119	c.17C>T	c.(16-18)cCt>cTt	p.P6L	COL19A1_ENST00000476656.1_3'UTR	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	6					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTCACTGGCCCTTGGAAACTT	0.433													5	47					0	0	0	0	T	70589476	C	T	70589476	3	4	328	1	0	0	0	0	1	0	0	0	3706	681	24	4	19	4	COL19A1	6	70589476	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	13576788	70589476	100525591	927	59141											
COL19A1	1310	broad.mit.edu	37	chr6	70866593	70866593	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagcggggctaccctgggaTacctggggagaaaggcgatg	10	5	18	8	2	0	2	0	0	0	2	0	5	0	3	2	6	3	1	2	6	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:70866593T>G	ENST00000322773.4	+	34	2372	c.2270T>G	c.(2269-2271)aTa>aGa	p.I757R	COL19A1_ENST00000393344.1_Missense_Mutation_p.I379R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	757	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TACCCTGGGATACCTGGGGAG	0.368													3	9					0	0	0	0	G	70866593	T	G	70866593	3	3	328	1	0	0	0	0	1	0	0	0	3706	1406	49	5	2400	5	COL19A1	6	70866593	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	277117	70866593	100248474	928	59142											
COL9A1	1297	broad.mit.edu	37	chr6	70993476	70993476	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctcatggcaagtttctctCctgggccgcagggggtcaca	7	9	13	12	1	3	0	2	0	1	0	5	0	4	0	2	4	1	4	2	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:70993476C>T	ENST00000357250.6	-	6	902	c.744G>A	c.(742-744)agG>agA	p.R248R	COL9A1_ENST00000370496.3_Silent_p.R248R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	248	Nonhelical region (NC4).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AAGTTTCTCTCCTGGGCCGCA	0.527													9	3					0	0	0	0	T	70993476	C	T	70993476	2	4	328	1	0	0	0	0	0	0	0	1	3737	854	30	2		2	COL9A1	6	70993476	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	126883	70993476	100121591	929	59143											
COL9A1	1297	broad.mit.edu	37	chr6	71009790	71009790	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttcccaacttgtaagcCacctgcaatgtagctgatcc	10	13	6	12	0	0	1	0	1	0	0	2	1	2	1	4	0	4	4	4	0	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:71009790C>T	ENST00000357250.6	-	4	413	c.255G>A	c.(253-255)gtG>gtA	p.V85V	COL9A1_ENST00000370496.3_Silent_p.V85V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	85	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACTTGTAAGCCACCTGCAATG	0.373													7	36					0	0	0	0	T	71009790	C	T	71009790	2	4	328	1	0	0	0	0	0	0	0	1	3737	581	21	4		4	COL9A1	6	71009790	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	16314	71009790	100105277	930	59144											
RIMS1	22999	broad.mit.edu	37	chr6	72947532	72947532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaattatccaggttgttGgaggaaaaatgactgactta	13	14	10	4	0	0	2	0	2	0	0	1	4	1	4	1	3	0	3	1	3	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:72947532G>A	ENST00000264839.7	+	9	1864	c.1864G>A	c.(1864-1866)Gga>Aga	p.G622R	RIMS1_ENST00000518273.1_Missense_Mutation_p.G622R|RIMS1_ENST00000521978.1_Missense_Mutation_p.G622R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G622R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G622R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G622R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G622R|RIMS1_ENST00000517827.1_Missense_Mutation_p.G81R|RIMS1_ENST00000425662.2_Missense_Mutation_p.G15R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G622R|RIMS1_ENST00000401910.3_Missense_Mutation_p.G96R|RIMS1_ENST00000523963.1_Missense_Mutation_p.G96R			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	622	PDZ.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)				CCAGGTTGTTGGAGGAAAAAT	0.358													7	21					0	0	0	0	A	72947532	G	A	72947532	3	1	328	1	0	0	0	0	1	0	0	0	13452	1349	47	4	2061	4	RIMS1	6	72947532	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1937742	72947532	98167535	931	59145											
RIMS1	22999	broad.mit.edu	37	chr6	72984052	72984052	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgttcactgggcaaacagGggtagatggtccccctccct	7	10	11	13	0	1	1	1	0	0	1	3	1	3	1	3	4	1	3	3	4	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:72984052G>A	ENST00000521978.1	+	23	3399	c.3398_splice	c.e23-1	p.R1133_splice	RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000518273.1_Splice_Site_p.R1069_splice|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000538414.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1133					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)				GGGCAAACAGGGGTAGATGGT	0.463													5	23					0	0	0	0	A	72984052	G	A	72984052	5	1	328	1	0	0	0	0	0	0	1	0	13452	1246	43	4	3652	4	RIMS1	6	72984052	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	36520	72984052	98131015	932	59146											
FILIP1	27145	broad.mit.edu	37	chr6	76022359	76022359	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgaattttattgtcCtctgtggttatgatattggc	8	19	10	4	0	1	3	0	3	1	0	2	3	2	3	1	2	0	1	1	2	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:76022359C>T	ENST00000393004.2	-	5	3410	c.3189G>A	c.(3187-3189)gaG>gaA	p.E1063E	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.E964E|FILIP1_ENST00000237172.7_Silent_p.E1063E			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1063										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTTATTGTCCTCTGTGGTTA	0.458													74	87					0	0	0	0	T	76022359	C	T	76022359	2	4	328	1	0	0	0	0	0	0	0	1	5939	680	24	4		4	FILIP1	6	76022359	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3038307	76022359	95092708	933	59147											
TPBG	7162	broad.mit.edu	37	chr6	83075788	83075788	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccctgataggcgctattttCctcctggttttgtatttgaa	6	17	9	9	1	0	2	0	2	0	0	2	2	2	2	3	2	0	3	3	2	4	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:83075788C>T	ENST00000369750.3	+	2	1727	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	TPBG_ENST00000535040.1_Silent_p.F370F|TPBG_ENST00000543496.1_Silent_p.F370F			Q13641	TPBG_HUMAN	trophoblast glycoprotein	370					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GCGCTATTTTCCTCCTGGTTT	0.463													31	27					0	0	0	0	T	83075788	C	T	83075788	2	4	328	1	0	0	0	0	0	0	0	1	16489	854	30	2		2	TPBG	6	83075788	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7053429	83075788	88039279	934	59148											
DOPEY1	23033	broad.mit.edu	37	chr6	83829546	83829546	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacatgccacttactatttCactaccttttcaaaagaatt	14	14	3	10	0	2	1	2	0	0	1	2	2	2	1	2	0	4	0	2	0	7	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:83829546C>T	ENST00000349129.2	+	9	1220	c.960C>T	c.(958-960)ttC>ttT	p.F320F	DOPEY1_ENST00000237163.5_Silent_p.F311F|DOPEY1_ENST00000369739.3_Silent_p.F311F|DOPEY1_ENST00000536812.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	320					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTTACTATTTCACTACCTTTT	0.363													25	21					0	0	0	0	T	83829546	C	T	83829546	2	4	328	1	0	0	0	0	0	0	0	1	4743	825	29	2		2	DOPEY1	6	83829546	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	753758	83829546	87285521	935	59149											
GJA10	84694	broad.mit.edu	37	chr6	90604513	90604513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagaaagacaggcagaGgaaaaagtcacaccttagag	17	6	11	7	0	1	4	1	1	0	4	1	6	1	5	1	2	0	1	1	2	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:90604513G>A	ENST00000369352.1	+	1	326	c.326G>A	c.(325-327)aGg>aAg	p.R109K		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	109					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GACAGGCAGAGGAAAAAGTCA	0.463													17	18					0	0	0	0	A	90604513	G	A	90604513	3	1	328	1	0	0	0	0	1	0	0	0	6452	1000	35	4	328	4	GJA10	6	90604513	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6774967	90604513	80510554	936	59150											
BACH2	60468	broad.mit.edu	37	chr6	90642434	90642434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggttaatactggaggccGtgggcaagtccatgggtctg	8	9	16	8	1	1	0	0	0	1	0	2	1	2	1	2	5	1	2	2	5	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:90642434G>A	ENST00000257749.4	-	9	2926	c.2219C>T	c.(2218-2220)aCg>aTg	p.T740M	BACH2_ENST00000537989.1_Missense_Mutation_p.T740M|BACH2_ENST00000343122.3_Missense_Mutation_p.T740M	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	740						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACTGGAGGCCGTGGGCAAGTC	0.617													31	15					0	0	0	0	A	90642434	G	A	90642434	3	1	328	1	0	0	0	0	1	0	0	0	1288	1145	40	1	310	1	BACH2	6	90642434	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	37921	90642434	80472633	937	59151											
PRDM13	59336	broad.mit.edu	37	chr6	100061805	100061805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcgccggggttgcccctcGagcgctgcgcgctgccgccc	1	6	15	19	7	0	0	0	0	0	0	1	1	0	0	5	2	5	3	5	2	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:100061805G>A	ENST00000369214.1	+	4	1585	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	PRDM13_ENST00000369215.4_Missense_Mutation_p.E432K	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GTTGCCCCTCGAGCGCTGCGC	0.736													13	2					0	0	0	0	A	100061805	G	A	100061805	3	1	328	1	0	0	0	0	1	0	0	0	12534	1059	37	1	1308	1	PRDM13	6	100061805	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	9419371	100061805	71053262	938	59152											
HACE1	57531	broad.mit.edu	37	chr6	105233028	105233028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggacagattttcatagctcCcaggtcctggaggttcaaat	10	12	10	9	0	2	1	2	0	0	1	4	3	4	3	2	4	1	2	2	4	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:105233028C>T	ENST00000262903.4	-	12	1517	c.1241G>A	c.(1240-1242)gGg>gAg	p.G414E	HACE1_ENST00000369125.2_Missense_Mutation_p.G414E	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	414					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTCATAGCTCCCAGGTCCTGG	0.438													22	28					0	0	0	0	T	105233028	C	T	105233028	3	4	328	1	0	0	0	0	1	0	0	0	6990	623	22	4	1540	4	HACE1	6	105233028	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5171223	105233028	65882039	939	59153											
SLC16A10	117247	broad.mit.edu	37	chr6	111543266	111543266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacctcgctggagtccctcCccttattggaggtgctgtgc	4	12	11	14	1	0	0	0	0	0	0	3	2	2	2	4	3	3	2	4	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:111543266C>T	ENST00000368850.3	+	5	920	c.434C>T	c.(433-435)cCc>cTc	p.P145L	SLC16A10_ENST00000368851.5_Missense_Mutation_p.P459L			Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	459					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GGAGTCCCTCCCCTTATTGGA	0.458													43	21					0	0	0	0	T	111543266	C	T	111543266	3	4	328	1	0	0	0	0	1	0	0	0	14491	623	22	4	1398	4	SLC16A10	6	111543266	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6310238	111543266	59571801	940	59154											
LAMA4	3910	broad.mit.edu	37	chr6	112440463	112440463	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagactttcttctaggactcGgagaccatcaattaccagtc	12	11	7	11	1	3	2	1	0	2	2	5	4	3	3	2	2	1	0	2	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:112440463G>A	ENST00000230538.7	-	34	5114	c.4717C>T	c.(4717-4719)Cga>Tga	p.R1573*	LAMA4_ENST00000522006.1_Nonsense_Mutation_p.R1566*|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.R1566*|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.R1566*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1573	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTAGGACTCGGAGACCATCA	0.453													31	23					0	0	0	0	A	112440463	G	A	112440463	4	1	328	1	0	0	0	0	0	1	0	0	8661	1124	39	1	778	1	LAMA4	6	112440463	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	897197	112440463	58674604	941	59155											
HDAC2	3066	broad.mit.edu	37	chr6	114267235	114267235	+	Missense_Mutation	SNP	G	G	A																															ccaacatcgagcaacattacGgattgtgtagccacctcctc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:114267235G>A	ENST00000519065.1	-	9	1295	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C	HDAC2_ENST00000368632.2_Missense_Mutation_p.R277C|HDAC2_ENST00000519108.1_Missense_Mutation_p.R277C|HDAC2_ENST00000398283.2_Missense_Mutation_p.R401C			Q92769	HDAC2_HUMAN	histone deacetylase 2	307	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GCAACATTACGGATTGTGTAG	0.378													51	39					0	0	0	0	A	114267235	G	A	114267235	3	1	328	1	0	0	0	0	1	0	0	0	7057	1116	39	1	571	1	HDAC2	6	114267235	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1826772	114267235	56847832	942	59156	555	2									
HDAC2	3066	broad.mit.edu	37	chr6	114267236	114267236	+	Silent	SNP	G	G	A																															caacatcgagcaacattacgGattgtgtagccacctcctcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:114267236G>A	ENST00000519065.1	-	9	1294	c.918C>T	c.(916-918)atC>atT	p.I306I	HDAC2_ENST00000368632.2_Silent_p.I276I|HDAC2_ENST00000519108.1_Silent_p.I276I|HDAC2_ENST00000398283.2_Silent_p.I400I			Q92769	HDAC2_HUMAN	histone deacetylase 2	306	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	CAACATTACGGATTGTGTAGC	0.378													51	38					0	0	0	0	A	114267236	G	A	114267236	2	1	328	1	0	0	0	0	0	0	0	1	7057	1164	41	2		2	HDAC2	6	114267236	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	114267236	56847831	943	59157	555	2									
ROS1	6098	broad.mit.edu	37	chr6	117718196	117718196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acccaaaataggtccacctgGgaattgaggtggatcccagc	12	7	11	11	0	0	1	0	1	0	0	2	3	2	3	4	4	1	0	4	4	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:117718196G>A	ENST00000368508.3	-	7	859	c.661C>T	c.(661-663)Cca>Tca	p.P221S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P230S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	221	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGTCCACCTGGGAATTGAGGT	0.428			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								61	36					0	0	0	0	A	117718196	G	A	117718196	3	1	328	1	0	0	0	0	1	0	0	0	13616	1232	43	4	6530	4	ROS1	6	117718196	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3450960	117718196	53396871	944	59158											
HEY2	23493	broad.mit.edu	37	chr6	126080935	126080935	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgaccctgggggacagaagTtggagctttttaaatttttc	9	13	11	8	1	0	1	0	0	0	1	1	4	0	3	2	3	1	2	2	3	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:126080935T>C	ENST00000368364.3	+	5	1198	c.1001T>C	c.(1000-1002)gTt>gCt	p.V334A	HEY2_ENST00000368365.1_Missense_Mutation_p.V288A	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	334					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GGGACAGAAGTTGGAGCTTTT	0.473													4	41					0	0	0	0	C	126080935	T	C	126080935	3	2	328	1	0	0	0	0	1	0	0	0	7129	1725	60	5	1019	5	HEY2	6	126080935	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	8362739	126080935	45034132	945	59159											
LAMA2	3908	broad.mit.edu	37	chr6	129371227	129371227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaatcaaaacagcagcaatCcaaaccgtatgtattttagt	16	10	6	9	1	1	0	1	0	0	0	2	0	2	0	2	0	4	5	2	0	8	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:129371227C>T	ENST00000421865.2	+	2	326	c.277C>T	c.(277-279)Cca>Tca	p.P93S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	93	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.P93T(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGCAGCAATCCAAACCGTAT	0.438													22	17					0	0	0	0	T	129371227	C	T	129371227	3	4	328	1	0	0	0	0	1	0	0	0	8659	855	30	2	283	2	LAMA2	6	129371227	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3290292	129371227	41743840	946	59160											
ARG1	383	broad.mit.edu	37	chr6	131900308	131900308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacatccctaatgacagtcCctttcaaattgtgaagaatc	13	12	6	10	0	1	4	1	3	0	1	4	4	3	4	2	0	0	0	2	0	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:131900308C>T	ENST00000368087.3	+	3	327	c.188C>T	c.(187-189)cCc>cTc	p.P63L	MED23_ENST00000354577.4_Intron|ARG1_ENST00000476845.1_Missense_Mutation_p.P63L|ARG1_ENST00000498260.1_3'UTR|ARG1_ENST00000356962.2_Missense_Mutation_p.P71L			P05089	ARGI1_HUMAN	arginase 1	63					arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	AATGACAGTCCCTTTCAAATT	0.428													23	15					0	0	0	0	T	131900308	C	T	131900308	3	4	328	1	0	0	0	0	1	0	0	0	859	623	22	4	198	4	ARG1	6	131900308	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2529081	131900308	39214759	947	59161											
BCLAF1	9774	broad.mit.edu	37	chr6	136582518	136582518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatttaggactgctacctGattttttgaagttaaagcgc	10	15	8	8	1	0	2	0	2	0	0	1	3	1	3	2	1	3	2	2	1	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:136582518G>A	ENST00000531224.1	-	12	2894	c.2642C>T	c.(2641-2643)tCa>tTa	p.S881L	BCLAF1_ENST00000353331.4_Missense_Mutation_p.S830L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S832L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S830L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S879L|BCLAF1_ENST00000031135.9_Missense_Mutation_p.S99L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S708L|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	881					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.S881L(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACTGCTACCTGATTTTTTGAA	0.428													53	181					0	0	0	0	A	136582518	G	A	136582518	3	1	328	1	0	0	0	0	1	0	0	0	1387	1294	45	2	128	2	BCLAF1	6	136582518	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4682210	136582518	34532549	948	59162											
HIVEP2	3097	broad.mit.edu	37	chr6	143092277	143092277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaggcattctggattGgagaaaatggaattgtctct	14	11	11	5	0	2	1	0	0	2	1	3	5	2	3	0	4	1	1	0	4	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:143092277G>A	ENST00000367603.2	-	5	4341	c.3599C>T	c.(3598-3600)cCa>cTa	p.P1200L	HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1200L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1200L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATTCTGGATTGGAGAAAATGG	0.443													78	48					0	0	0	0	A	143092277	G	A	143092277	3	1	328	1	0	0	0	0	1	0	0	0	7237	1348	47	4	3765	4	HIVEP2	6	143092277	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6509759	143092277	28022790	949	59163											
UTRN	7402	broad.mit.edu	37	chr6	145093100	145093100	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgaccgaactctttcaatcCcttggtaagtgttattaata	12	15	6	8	1	2	1	1	1	1	0	3	2	3	1	2	1	1	2	2	1	6	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:145093100C>T	ENST00000367545.3	+	58	8553	c.8553C>T	c.(8551-8553)tcC>tcT	p.S2851S	UTRN_ENST00000367526.4_Silent_p.S406S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2851	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTTTCAATCCCTTGGTAAGT	0.274													5	54					0	0	0	0	T	145093100	C	T	145093100	2	4	328	1	0	0	0	0	0	0	0	1	17199	610	22	4		4	UTRN	6	145093100	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2000823	145093100	26021967	950	59164											
SASH1	23328	broad.mit.edu	37	chr6	148840782	148840782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttctttgatggctctcCtgagaaacctcccgaagatg	8	13	8	12	1	2	3	0	2	2	2	4	5	3	3	4	1	1	1	4	1	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:148840782C>T	ENST00000367467.3	+	10	1437	c.962C>T	c.(961-963)cCt>cTt	p.P321L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	321							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GATGGCTCTCCTGAGAAACCT	0.582													33	17					0	0	0	0	T	148840782	C	T	148840782	3	4	328	1	0	0	0	0	1	0	0	0	13934	681	24	4	1000	4	SASH1	6	148840782	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3747682	148840782	22274285	951	59165											
SASH1	23328	broad.mit.edu	37	chr6	148867169	148867169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcatggccgctgtgggattCctgaagccctggtgcagaga	8	8	15	10	1	0	2	0	1	0	1	1	4	1	3	3	3	3	3	3	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:148867169C>T	ENST00000367467.3	+	19	3842	c.3367C>T	c.(3367-3369)Cct>Tct	p.P1123S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1123							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTGTGGGATTCCTGAAGCCCT	0.522													24	19					0	0	0	0	T	148867169	C	T	148867169	3	4	328	1	0	0	0	0	1	0	0	0	13934	855	30	2	3441	2	SASH1	6	148867169	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	26387	148867169	22247898	952	59166											
LATS1	9113	broad.mit.edu	37	chr6	150005651	150005651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacactttctcctagtggcgGgccatgcctctgaggaacta	8	10	10	13	1	2	1	0	1	2	0	3	2	2	2	3	3	2	0	3	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:150005651G>A	ENST00000543571.1	-	4	1121	c.574C>T	c.(574-576)Ccg>Tcg	p.P192S	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Missense_Mutation_p.P192S|LATS1_ENST00000253339.5_Missense_Mutation_p.P192S	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	192					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CCTAGTGGCGGGCCATGCCTC	0.448													31	17					0	0	0	0	A	150005651	G	A	150005651	3	1	328	1	0	0	0	0	1	0	0	0	8699	1232	43	4	2838	4	LATS1	6	150005651	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1138482	150005651	21109416	953	59167											
MYCT1	80177	broad.mit.edu	37	chr6	153019152	153019152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtttttctttctgtttttCttctctttcttctatttctt	1	29	3	8	0	7	0	0	0	7	0	8	0	7	0	0	1	0	2	0	1	1	11			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:153019152C>T	ENST00000367245.5	+	1	123	c.115C>T	c.(115-117)Ctt>Ttt	p.L39F	MYCT1_ENST00000529453.1_Missense_Mutation_p.L39F	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	39						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TTCTGTTTTTCTTCTCTTTCT	0.328													14	7					0	0	0	0	T	153019152	C	T	153019152	3	4	328	1	0	0	0	0	1	0	0	0	10092	913	32	2	117	2	MYCT1	6	153019152	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3013501	153019152	18095915	954	59168											
OPRM1	4988	broad.mit.edu	37	chr6	154412608	154412608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatagaactaatcatcagGtacgcagtctctagaattag	14	11	9	7	1	3	2	2	0	1	2	4	3	3	3	0	2	2	2	0	2	7	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:154412608G>A	ENST00000428397.2	+	3	1361	c.1165G>A	c.(1165-1167)Gta>Ata	p.V389I	OPRM1_ENST00000414028.2_Splice_Site|OPRM1_ENST00000452687.2_Splice_Site|OPRM1_ENST00000435918.2_Splice_Site|OPRM1_ENST00000522555.1_Splice_Site|OPRM1_ENST00000330432.7_Splice_Site|OPRM1_ENST00000419506.2_Splice_Site|OPRM1_ENST00000229768.5_Splice_Site|OPRM1_ENST00000360422.4_Splice_Site|OPRM1_ENST00000522236.1_Splice_Site|OPRM1_ENST00000520708.1_Splice_Site|OPRM1_ENST00000518759.1_Splice_Site|OPRM1_ENST00000337049.4_Splice_Site|OPRM1_ENST00000524163.1_Splice_Site|OPRM1_ENST00000434900.2_Splice_Site	NM_001008504.2	NP_001008504.2	P35372	OPRM_HUMAN	opioid receptor, mu 1	389					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TAATCATCAGGTACGCAGTCT	0.403													15	14					0	0	0	0	A	154412608	G	A	154412608	3	1	328	1	0	0	0	0	1	0	0	0	10958	1275	44	4	1509	4	OPRM1	6	154412608	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1393456	154412608	16702459	955	59169											
NOX3	50508	broad.mit.edu	37	chr6	155750157	155750157	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcatgtgaagttccaGgactccagaggggtggctta	8	13	12	8	0	1	2	1	1	0	1	3	3	3	3	2	4	0	2	2	4	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:155750157G>A	ENST00000159060.2	-	9	1018	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	306	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGAAGTTCCAGGACTCCAGAG	0.488													39	30					0	0	0	0	A	155750157	G	A	155750157	2	1	328	1	0	0	0	0	0	0	0	1	10627	991	35	4		4	NOX3	6	155750157	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1337549	155750157	15364910	956	59170											
IGF2R	3482	broad.mit.edu	37	chr6	160496887	160496887	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctttgtttaggatatcggCcgggtagcaggaccaccaat	9	11	11	10	2	1	0	0	0	1	0	2	2	1	2	3	4	1	3	3	4	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:160496887C>T	ENST00000356956.1	+	36	5323	c.5175C>T	c.(5173-5175)ggC>ggT	p.G1725G		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1725					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGATATCGGCCGGGTAGCAG	0.393													41	10					0	0	0	0	T	160496887	C	T	160496887	2	4	328	1	0	0	0	0	0	0	0	1	7629	726	26	4		4	IGF2R	6	160496887	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4746730	160496887	10618180	957	59171											
SLC22A3	6581	broad.mit.edu	37	chr6	160828085	160828085	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaaaaggtatggcaggatCgtcatttacttgctatcctg	11	13	9	8	1	2	0	2	0	0	0	4	1	3	1	1	3	2	3	1	3	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:160828085C>T	ENST00000392145.1	+	3	573	c.546C>T	c.(544-546)atC>atT	p.I182I	SLC22A3_ENST00000275300.2_Silent_p.I182I			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	182						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		ATGGCAGGATCGTCATTTACT	0.418													28	19					0	0	0	0	T	160828085	C	T	160828085	2	4	328	1	0	0	0	0	0	0	0	1	14543	874	31	1		1	SLC22A3	6	160828085	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	331198	160828085	10286982	958	59172											
C6orf118	168090	broad.mit.edu	37	chr6	165715438	165715438	+	Missense_Mutation	SNP	C	C	T																															gtacctgaacagcggggtgtCctgggcctcactggggacca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:165715438C>T	ENST00000543069.1	-	2	642	c.61G>A	c.(61-63)Gac>Aac	p.D21N	C6orf118_ENST00000230301.8_Missense_Mutation_p.D125N			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	125										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGCGGGGTGTCCTGGGCCTCA	0.632													43	26					0	0	0	0	T	165715438	C	T	165715438	3	4	328	1	0	0	0	0	1	0	0	0	2344	855	30	2	1068	2	C6orf118	6	165715438	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4887353	165715438	5399629	959	59173	556	2									
C6orf118	168090	broad.mit.edu	37	chr6	165715439	165715439	+	Silent	SNP	C	C	T																															tacctgaacagcggggtgtcCtgggcctcactggggaccag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:165715439C>T	ENST00000543069.1	-	2	641	c.60G>A	c.(58-60)caG>caA	p.Q20Q	C6orf118_ENST00000230301.8_Silent_p.Q124Q			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	124										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCGGGGTGTCCTGGGCCTCAC	0.637													43	24					0	0	0	0	T	165715439	C	T	165715439	2	4	328	1	0	0	0	0	0	0	0	1	2344	680	24	4		4	C6orf118	6	165715439	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	165715439	5399628	960	59174	556	2									
PDE10A	10846	broad.mit.edu	37	chr6	165809838	165809838	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgcagagacgcacgggaagGgtgaattgcatgagaccttg	11	8	15	7	2	0	3	0	2	0	2	0	6	0	4	1	2	2	3	1	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:165809838G>A	ENST00000366882.1	-	15	1513	c.1359C>T	c.(1357-1359)acC>acT	p.T453T	PDE10A_ENST00000539869.2_Silent_p.T463T|PDE10A_ENST00000354448.4_Silent_p.T453T			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	453					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GCACGGGAAGGGTGAATTGCA	0.418													43	22					0	0	0	0	A	165809838	G	A	165809838	2	1	328	1	0	0	0	0	0	0	0	1	11701	1219	43	4		4	PDE10A	6	165809838	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	94399	165809838	5305229	961	59175											
RPS6KA2	6196	broad.mit.edu	37	chr6	166833431	166833431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacacgccgcatcatagcCttgacgcttcaggacctagg	9	8	10	14	3	3	1	3	1	0	0	3	2	3	2	3	2	1	2	3	2	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:166833431C>T	ENST00000510118.1	-	20	2174	c.1834G>A	c.(1834-1836)Ggc>Agc	p.G612S	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.G498S|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.G595S|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.G498S|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.G587S			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	587	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCATCATAGCCTTGACGCTTC	0.557													21	13					0	0	0	0	T	166833431	C	T	166833431	3	4	328	1	0	0	0	0	1	0	0	0	13736	681	24	4	458	4	RPS6KA2	6	166833431	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1023593	166833431	4281636	962	59176											
IQCE	23288	broad.mit.edu	37	chr7	2613060	2613060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtttctctaggtcatgtcCctgggactcctgtctacaga	7	14	9	11	0	3	1	1	0	2	1	6	2	5	2	2	2	1	1	2	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:2613060C>T	ENST00000402050.2	+	6	587	c.403C>T	c.(403-405)Cct>Tct	p.P135S	IQCE_ENST00000325979.7_Missense_Mutation_p.P70S|IQCE_ENST00000404984.1_Missense_Mutation_p.P84S|IQCE_ENST00000438376.2_Missense_Mutation_p.P119S	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	135										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		AGGTCATGTCCCTGGGACTCC	0.348													17	39					0	0	0	0	T	2613060	C	T	2613060	3	4	328	1	0	0	0	0	1	0	0	0	7859	623	22	4	425	4	IQCE	7	2613060	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08		2613060	156525603	963	59177											
TTYH3	80727	broad.mit.edu	37	chr7	2686531	2686531	+	Silent	SNP	G	G	A																															gccctggcctgcctcgccctGgacctcctcttcctgctctt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:2686531G>A	ENST00000258796.7	+	2	373	c.168G>A	c.(166-168)ctG>ctA	p.L56L	TTYH3_ENST00000407643.1_Silent_p.L56L	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	56						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCCTCGCCCTGGACCTCCTCT	0.711													12	12					0	0	0	0	A	2686531	G	A	2686531	2	1	328	1	0	0	0	0	0	0	0	1	16837	1335	47	4		4	TTYH3	7	2686531	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	73471	2686531	156452132	964	59178	557	2									
TTYH3	80727	broad.mit.edu	37	chr7	2686532	2686532	+	Missense_Mutation	SNP	G	G	A																															ccctggcctgcctcgccctgGacctcctcttcctgctcttc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:2686532G>A	ENST00000258796.7	+	2	374	c.169G>A	c.(169-171)Gac>Aac	p.D57N	TTYH3_ENST00000407643.1_Missense_Mutation_p.D57N	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	57						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CCTCGCCCTGGACCTCCTCTT	0.706													12	12					0	0	0	0	A	2686532	G	A	2686532	3	1	328	1	0	0	0	0	1	0	0	0	16837	1174	41	2	175	2	TTYH3	7	2686532	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	2686532	156452131	965	59179	557	2									
CARD11	84433	broad.mit.edu	37	chr7	2951812	2951812	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtccccgcctcaccttggcGgccacagcttcaatgttggc	6	9	10	16	2	2	0	2	0	0	0	3	0	3	0	5	3	1	2	5	3	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:2951812G>A	ENST00000396946.4	-	23	3541	c.3138C>T	c.(3136-3138)gcC>gcT	p.A1046A		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1046	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCACCTTGGCGGCCACAGCTT	0.602			Mis		DLBCL								23	47					0	0	0	0	A	2951812	G	A	2951812	2	1	328	1	0	0	0	0	0	0	0	1	2670	1103	39	1		1	CARD11	7	2951812	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	265280	2951812	156186851	966	59180											
FOXK1	221937	broad.mit.edu	37	chr7	4798813	4798813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgggtccaagttagcttCtgtcccagagtaccggtatt	7	14	11	9	1	1	1	0	0	1	1	3	1	3	1	3	2	2	5	3	2	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:4798813C>T	ENST00000328914.4	+	6	1376	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F	FOXK1_ENST00000446823.1_Missense_Mutation_p.S296F	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	459					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AAGTTAGCTTCTGTCCCAGAG	0.687													87	87					0	0	0	0	T	4798813	C	T	4798813	3	4	328	1	0	0	0	0	1	0	0	0	6061	913	32	2	1398	2	FOXK1	7	4798813	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1847001	4798813	154339850	967	59181											
COL28A1	340267	broad.mit.edu	37	chr7	7480428	7480428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaagaaacatacctttggtCcttcgggccctggaagtccc	10	9	9	13	1	0	1	0	0	0	1	3	2	2	2	4	3	2	0	4	3	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:7480428C>T	ENST00000399429.3	-	21	1855	c.1715G>A	c.(1714-1716)gGa>gAa	p.G572E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	572	Collagen-like 5.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TACCTTTGGTCCTTCGGGCCC	0.373													35	49					0	0	0	0	T	7480428	C	T	7480428	3	4	328	1	0	0	0	0	1	0	0	0	3716	855	30	2	1722	2	COL28A1	7	7480428	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2681615	7480428	151658235	968	59182											
THSD7A	221981	broad.mit.edu	37	chr7	11501730	11501730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgttggctggcagctgaatGatgacccgatgcctagactg	8	9	13	11	2	0	4	0	3	0	1	0	5	0	4	3	2	2	4	3	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:11501730G>A	ENST00000423059.3	-	10	2660	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	803	TSP type-1 8.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCAGCTGAATGATGACCCGAT	0.502										HNSCC(18;0.044)			52	47					0	0	0	0	A	11501730	G	A	11501730	2	1	328	1	0	0	0	0	0	0	0	1	15973	1280	45	2		2	THSD7A	7	11501730	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4021302	11501730	147636933	969	59183											
THSD7A	221981	broad.mit.edu	37	chr7	11521554	11521554	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggcatggggcatcacaGgccacagggatggggaagat	10	6	17	8	1	1	1	1	0	0	1	2	3	1	3	1	7	0	2	1	7	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:11521554G>A	ENST00000423059.3	-	7	2129	c.1878C>T	c.(1876-1878)gcC>gcT	p.A626A	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	626						integral to membrane		p.A626A(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGGCATCACAGGCCACAGGGA	0.507										HNSCC(18;0.044)			25	39					0	0	0	0	A	11521554	G	A	11521554	2	1	328	1	0	0	0	0	0	0	0	1	15973	987	35	4		4	THSD7A	7	11521554	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	19824	11521554	147617109	970	59184											
THSD7A	221981	broad.mit.edu	37	chr7	11633120	11633120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcattggaagcttctcttgCtggcaaaagctgtaaaagag	12	11	11	7	0	2	1	1	0	1	1	3	2	2	2	0	2	3	5	0	2	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:11633120C>T	ENST00000423059.3	-	3	1283	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	344						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCTTCTCTTGCTGGCAAAAGC	0.463										HNSCC(18;0.044)			24	69					0	0	0	0	T	11633120	C	T	11633120	2	4	328	1	0	0	0	0	0	0	0	1	15973	796	28	4		4	THSD7A	7	11633120	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	111566	11633120	147505543	971	59185											
ETV1	2115	broad.mit.edu	37	chr7	13971342	13971342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgtcggcaaaggaggaaagGagttacagggttcagaaagc	14	6	15	6	2	1	1	1	0	0	1	3	4	1	4	0	5	2	3	0	5	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:13971342G>A	ENST00000343495.5	-	8	1271	c.533C>T	c.(532-534)tCc>tTc	p.S178F	ETV1_ENST00000403685.1_Missense_Mutation_p.S178F|ETV1_ENST00000430479.1_Missense_Mutation_p.S196F|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405218.2_Missense_Mutation_p.S196F|ETV1_ENST00000242066.5_Missense_Mutation_p.S178F|ETV1_ENST00000405358.4_Missense_Mutation_p.S210F|ETV1_ENST00000405192.2_Missense_Mutation_p.S196F|ETV1_ENST00000403527.1_Missense_Mutation_p.S156F|ETV1_ENST00000399357.3_Missense_Mutation_p.S93F|ETV1_ENST00000420159.2_Missense_Mutation_p.S138F			P50549	ETV1_HUMAN	ets variant 1	196					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGGAGGAAAGGAGTTACAGGG	0.483			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								21	19					0	0	0	0	A	13971342	G	A	13971342	3	1	328	1	0	0	0	0	1	0	0	0	5315	1174	41	2	870	2	ETV1	7	13971342	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2338222	13971342	145167321	972	59186											
MEOX2	4223	broad.mit.edu	37	chr7	15666370	15666370	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgataatgcccagctttaCctgtctttcagtgagatcca	11	13	7	10	0	2	2	1	2	1	1	3	3	3	2	3	0	3	1	3	0	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:15666370C>T	ENST00000262041.5	-	2	1100		c.e2+1			NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2						blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CCCAGCTTTACCTGTCTTTCA	0.393													45	52					0	0	0	0	T	15666370	C	T	15666370	5	4	328	1	0	0	0	0	0	0	1	0	9543	521	18	4	231	4	MEOX2	7	15666370	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1695028	15666370	143472293	973	59187											
PRPS1L1	221823	broad.mit.edu	37	chr7	18066490	18066490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtaggaaacagattcccCattatgagttctccttatgg	11	12	9	9	0	1	2	0	1	1	1	3	3	2	3	3	3	1	2	3	3	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:18066490C>T	ENST00000506618.2	-	1	996	c.916G>A	c.(916-918)Ggg>Agg	p.G306R		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	306					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ACAGATTCCCCATTATGAGTT	0.343													75	181					0	0	0	0	T	18066490	C	T	18066490	3	4	328	1	0	0	0	0	1	0	0	0	12659	594	21	4	44	4	PRPS1L1	7	18066490	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2400120	18066490	141072173	974	59188											
FERD3L	222894	broad.mit.edu	37	chr7	19184769	19184769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcctcctcctcttctccgtCcccctggtccacttcgcact	2	14	4	21	2	2	0	0	0	2	0	9	0	7	0	7	1	0	1	7	1	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:19184769C>T	ENST00000275461.3	-	1	275	c.217G>A	c.(217-219)Gac>Aac	p.D73N	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	73					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						tcttctccgtccccctggtcc	0.647													9	21					0	0	0	0	T	19184769	C	T	19184769	3	4	328	1	0	0	0	0	1	0	0	0	5861	855	30	2	287	2	FERD3L	7	19184769	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1118279	19184769	139953894	975	59189											
MACC1	346389	broad.mit.edu	37	chr7	20198464	20198464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctttttaggtttggggttGgatcaggagtagtgatagag	8	15	16	2	0	2	2	1	1	1	1	2	4	2	4	0	5	0	3	0	5	3	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:20198464G>T	ENST00000400331.5	-	5	1828	c.1520C>A	c.(1519-1521)cCa>cAa	p.P507Q	MACC1_ENST00000332878.4_Missense_Mutation_p.P507Q|MACC1_ENST00000589011.1_Missense_Mutation_p.P507Q	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	507					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTTTGGGGTTGGATCAGGAGT	0.413													42	84					3.77016e-25	3.85438e-25	1	0	T	20198464	G	T	20198464	3	4	328	1	0	0	0	0	1	0	0	0	9208	1348	47	4	1050	4	MACC1	7	20198464	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1013695	20198464	138940199	976	59190											
DNAH11	8701	broad.mit.edu	37	chr7	21640715	21640715	+	Missense_Mutation	SNP	C	C	A																															ggttcaaggtggacatgaagCctttcaaagtgagcttgtta																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:21640715C>A	ENST00000328843.6	+	17	3374	c.3343C>A	c.(3343-3345)Cct>Act	p.P1115T	DNAH11_ENST00000409508.3_Missense_Mutation_p.P1115T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1115	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGACATGAAGCCTTTCAAAGT	0.363									Kartagener syndrome				32	22					1.30998e-17	1.33394e-17	1	0	A	21640715	C	A	21640715	3	1	328	1	0	0	0	0	1	0	0	0	4636	739	26	4	3409	4	DNAH11	7	21640715	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1442251	21640715	137497948	977	59191	558	2									
DNAH11	8701	broad.mit.edu	37	chr7	21640716	21640716	+	Missense_Mutation	SNP	C	C	T																															gttcaaggtggacatgaagcCtttcaaagtgagcttgttaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:21640716C>T	ENST00000328843.6	+	17	3375	c.3344C>T	c.(3343-3345)cCt>cTt	p.P1115L	DNAH11_ENST00000409508.3_Missense_Mutation_p.P1115L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1115	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACATGAAGCCTTTCAAAGTG	0.363									Kartagener syndrome				32	21					0	0	0	0	T	21640716	C	T	21640716	3	4	328	1	0	0	0	0	1	0	0	0	4636	681	24	4	3410	4	DNAH11	7	21640716	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	21640716	137497947	978	59192	558	2									
DNAH11	8701	broad.mit.edu	37	chr7	21698455	21698455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttgaacagactatgcaaGaaacggtgcgtcattctata	15	10	8	8	2	2	3	1	1	1	2	2	3	2	3	0	1	5	1	0	1	7	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:21698455G>A	ENST00000328843.6	+	30	5180	c.5149G>A	c.(5149-5151)Gaa>Aaa	p.E1717K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E1712K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1717	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACTATGCAAGAAACGGTGCG	0.423									Kartagener syndrome				10	8					0	0	0	0	A	21698455	G	A	21698455	3	1	328	1	0	0	0	0	1	0	0	0	4636	943	33	2	5267	2	DNAH11	7	21698455	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	57739	21698455	137440208	979	59193											
DNAH11	8701	broad.mit.edu	37	chr7	21784504	21784504	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggtatagatagtcacaTgctgcttcaacagcccctca	11	9	9	12	0	3	1	3	0	0	1	3	1	3	1	2	1	4	4	2	1	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:21784504T>G	ENST00000328843.6	+	52	8385	c.8354T>G	c.(8353-8355)aTg>aGg	p.M2785R	DNAH11_ENST00000409508.3_Missense_Mutation_p.M2778R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2785					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATAGTCACATGCTGCTTCAA	0.478									Kartagener syndrome				7	13					0	0	0	0	G	21784504	T	G	21784504	3	3	328	1	0	0	0	0	1	0	0	0	4636	1464	51	5	8557	5	DNAH11	7	21784504	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	86049	21784504	137354159	980	59194											
OSBPL3	26031	broad.mit.edu	37	chr7	24902874	24902874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaccgccacctcctgtgcGatcttttttcctttttggga	4	16	9	12	2	1	0	0	0	1	0	3	3	3	2	5	2	1	0	5	2	0	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:24902874G>A	ENST00000313367.2	-	9	1266	c.815C>T	c.(814-816)tCg>tTg	p.S272L	OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000352860.1_Intron|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S272L|OSBPL3_ENST00000396429.1_Missense_Mutation_p.S272L|OSBPL3_ENST00000396431.1_Intron	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	272					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCTCCTGTGCGATCTTTTTTC	0.458													36	48					0	0	0	0	A	24902874	G	A	24902874	3	1	328	1	0	0	0	0	1	0	0	0	11350	1059	37	1	1908	1	OSBPL3	7	24902874	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3118370	24902874	134235789	981	59195											
PDE1C	5137	broad.mit.edu	37	chr7	32209525	32209525	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccttgacattccctgtgagCccatcgatgagggagttcca	8	11	10	12	1	0	3	0	3	0	0	4	5	3	4	4	1	1	1	4	1	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:32209525C>A	ENST00000396193.1	-	3	773	c.180G>T	c.(178-180)ggG>ggT	p.G60G		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCCCTGTGAGCCCATCGATGA	0.522													46	104					7.88023e-25	8.05379e-25	1	0	A	32209525	C	A	32209525	2	1	328	1	0	0	0	0	0	0	0	1	11706	754	26	4		4	PDE1C	7	32209525	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7306651	32209525	126929138	982	59196											
KBTBD2	25948	broad.mit.edu	37	chr7	32910196	32910196	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaagaacagaagacaaataCtgggatcgtgattctgtgtt	14	11	10	6	1	1	4	0	1	1	3	2	5	1	5	0	1	2	1	0	1	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:32910196C>A	ENST00000304056.4	-	4	1332	c.633G>T	c.(631-633)caG>caT	p.Q211H	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	211										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			AAGACAAATACTGGGATCGTG	0.403													37	72					1.30998e-17	1.33394e-17	1	0	A	32910196	C	A	32910196	3	1	328	1	0	0	0	0	1	0	0	0	8046	564	20	4	1242	4	KBTBD2	7	32910196	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	700671	32910196	126228467	983	59197											
RP9	6100	broad.mit.edu	37	chr7	33134978	33134978	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctctttaccttcagaGgaactggagctgctcctatc	7	15	8	11	0	2	1	1	0	1	1	5	3	3	3	2	2	4	3	2	2	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:33134978G>A	ENST00000297157.3	-	6	551	c.534C>T	c.(532-534)tcC>tcT	p.S178S		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	178	Poly-Ser.				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			TACCTTCAGAGGAACTGGAGC	0.348													24	41					0	0	0	0	A	33134978	G	A	33134978	2	1	328	1	0	0	0	0	0	0	0	1	13620	987	35	4		4	RP9	7	33134978	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	224782	33134978	126003685	984	59198											
BMPER	168667	broad.mit.edu	37	chr7	34125373	34125373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcctcctcctctaggtttgGaaatatcttgggatggagac	8	13	10	10	0	2	1	0	0	2	1	5	4	5	3	3	4	0	1	3	4	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:34125373G>A	ENST00000297161.2	+	14	1788	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	BMPER_ENST00000426693.1_Missense_Mutation_p.E472K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	472	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCTAGGTTTGGAAATATCTTG	0.428													18	16					0	0	0	0	A	34125373	G	A	34125373	3	1	328	1	0	0	0	0	1	0	0	0	1473	1175	41	2	1464	2	BMPER	7	34125373	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	990395	34125373	125013290	985	59199											
HERPUD2	64224	broad.mit.edu	37	chr7	35677969	35677969	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattaacttactactgcataTaatactgatgagcatacatc	15	13	5	8	0	0	2	0	2	0	0	1	3	0	2	0	0	7	2	0	0	7	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:35677969T>A	ENST00000396081.1	-	5	1412	c.608A>T	c.(607-609)tAt>tTt	p.Y203F	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.Y203F	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	203					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CTACTGCATATAATACTGATG	0.388													17	53					0	0	0	0	A	35677969	T	A	35677969	3	1	328	1	0	0	0	0	1	0	0	0	7114	1406	49	5	628	5	HERPUD2	7	35677969	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1552596	35677969	123460694	986	59200											
ELMO1	9844	broad.mit.edu	37	chr7	37354507	37354507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctggagtgcaaaatattCatggttggcaagagaccacc	13	9	11	8	0	1	1	1	0	0	1	1	3	1	2	2	3	2	4	2	3	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:37354507C>T	ENST00000310758.4	-	4	786	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	ELMO1_ENST00000442504.1_Missense_Mutation_p.E47K|ELMO1_ENST00000448602.1_Missense_Mutation_p.E47K	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	47					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCAAAATATTCATGGTTGGCA	0.328													29	40					0	0	0	0	T	37354507	C	T	37354507	3	4	328	1	0	0	0	0	1	0	0	0	5103	835	29	2	2120	2	ELMO1	7	37354507	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1676538	37354507	121784156	987	59201											
AMPH	273	broad.mit.edu	37	chr7	38431519	38431519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccggaggagccgcgtcctCggtggtctccttgggctctg	2	9	16	14	4	2	0	0	0	2	0	5	2	3	2	4	5	1	1	4	5	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:38431519C>T	ENST00000356264.2	-	19	1923	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K	AMPH_ENST00000428293.2_Missense_Mutation_p.E528K|AMPH_ENST00000325590.5_Missense_Mutation_p.E528K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	570					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCCGCGTCCTCGGTGGTCTCC	0.597													29	35					0	0	0	0	T	38431519	C	T	38431519	3	4	328	1	0	0	0	0	1	0	0	0	588	893	31	1	391	1	AMPH	7	38431519	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1077012	38431519	120707144	988	59202											
AMPH	273	broad.mit.edu	37	chr7	38462075	38462075	+	Silent	SNP	G	G	A																															gtgaataatgaagtatcctgGggctgaaaatcaaggataaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:38462075G>A	ENST00000356264.2	-	16	1433	c.1218C>T	c.(1216-1218)ccC>ccT	p.P406P	AMPH_ENST00000428293.2_Silent_p.P406P|AMPH_ENST00000325590.5_Silent_p.P406P|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	406					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AAGTATCCTGGGGCTGAAAAT	0.353													54	83					0	0	0	0	A	38462075	G	A	38462075	2	1	328	1	0	0	0	0	0	0	0	1	588	1219	43	4		4	AMPH	7	38462075	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	30556	38462075	120676588	989	59203	559	2									
AMPH	273	broad.mit.edu	37	chr7	38462076	38462076	+	Splice_Site	SNP	G	G	A																															tgaataatgaagtatcctggGgctgaaaatcaaggataaaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:38462076G>A	ENST00000356264.2	-	16	1432	c.1215_splice	c.e16-1	p.P406_splice	AMPH_ENST00000428293.2_Splice_Site_p.P406_splice|AMPH_ENST00000325590.5_Splice_Site_p.P406_splice|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	406					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGTATCCTGGGGCTGAAAATC	0.348													54	83					0	0	0	0	A	38462076	G	A	38462076	5	1	328	1	0	0	0	0	0	0	1	0	588	1246	43	4	894	4	AMPH	7	38462076	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	38462076	120676587	990	59204	559	2									
GLI3	2737	broad.mit.edu	37	chr7	42017192	42017192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgttttggtgtttggcgcGatcagaggcatttgagaaag	8	14	14	5	2	2	2	1	1	1	2	2	4	2	2	0	3	0	3	0	3	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:42017192G>A	ENST00000395925.3	-	12	1861	c.1777C>T	c.(1777-1779)Cgc>Tgc	p.R593C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	593					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGTTTGGCGCGATCAGAGGCA	0.468									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	33					0	0	0	0	A	42017192	G	A	42017192	3	1	328	1	0	0	0	0	1	0	0	0	6490	1058	37	1	2981	1	GLI3	7	42017192	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3555116	42017192	117121471	991	59205											
BLVRA	644	broad.mit.edu	37	chr7	43832356	43832356	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtccttgtggaatacccCatgacactgtcattggcggc	8	10	10	13	2	1	1	1	1	0	0	2	2	2	2	3	3	1	0	3	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:43832356C>T	ENST00000402924.1	+	6	460	c.297C>T	c.(295-297)ccC>ccT	p.P99P	BLVRA_ENST00000265523.4_Silent_p.P99P	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	99					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	TGGAATACCCCATGACACTGT	0.468													14	27					0	0	0	0	T	43832356	C	T	43832356	2	4	328	1	0	0	0	0	0	0	0	1	1456	581	21	4		4	BLVRA	7	43832356	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1815164	43832356	115306307	992	59206											
NPC1L1	29881	broad.mit.edu	37	chr7	44579282	44579282	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcaacgtgcaaccccCtcattcagaggctgaatccc	10	9	7	15	1	3	2	3	1	0	1	4	2	4	2	3	1	4	3	3	1	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:44579282C>T	ENST00000289547.4	-	2	769	c.714G>A	c.(712-714)gaG>gaA	p.E238E	NPC1L1_ENST00000546276.1_Silent_p.E238E|NPC1L1_ENST00000381160.3_Silent_p.E238E|NPC1L1_ENST00000423141.1_Silent_p.E238E	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	238					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GTGCAACCCCCTCATTCAGAG	0.632													54	59					0	0	0	0	T	44579282	C	T	44579282	2	4	328	1	0	0	0	0	0	0	0	1	10641	680	24	4		4	NPC1L1	7	44579282	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	746926	44579282	114559381	993	59207											
ADCY1	107	broad.mit.edu	37	chr7	45744122	45744122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttttaaacaaagctcatGgaaaaagacttttacaagga	18	11	7	5	0	1	1	1	0	0	1	1	3	1	3	0	2	3	2	0	2	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:45744122G>A	ENST00000297323.7	+	17	2746	c.2724G>A	c.(2722-2724)atG>atA	p.M908I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	908					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CAAAGCTCATGGAAAAAGACT	0.498													22	49					0	0	0	0	A	45744122	G	A	45744122	3	1	328	1	0	0	0	0	1	0	0	0	292	1348	47	4	2790	4	ADCY1	7	45744122	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1164840	45744122	113394541	994	59208											
ADCY1	107	broad.mit.edu	37	chr7	45747965	45747965	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctaggctaagaagtccatctCctcccacctgagcacgctgg	9	8	9	15	1	1	2	0	1	1	1	4	2	3	2	4	2	1	3	4	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:45747965C>G	ENST00000297323.7	+	18	2856	c.2834C>G	c.(2833-2835)tCc>tGc	p.S945C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	945					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AAGTCCATCTCCTCCCACCTG	0.527													15	36					0	0	0	0	G	45747965	C	G	45747965	3	3	328	1	0	0	0	0	1	0	0	0	292	855	30	2	2904	2	ADCY1	7	45747965	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3843	45747965	113390698	995	59209											
TNS3	64759	broad.mit.edu	37	chr7	47408308	47408308	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggcccactgcctacaccCctctggacagccaccctact	7	8	7	19	0	1	0	0	0	1	0	1	1	1	1	6	2	4	0	6	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:47408308C>T	ENST00000398879.1	-	17	2301	c.1935G>A	c.(1933-1935)agG>agA	p.R645R	TNS3_ENST00000311160.9_Silent_p.R645R|TNS3_ENST00000355730.3_Silent_p.R405R			Q68CZ2	TENS3_HUMAN	tensin 3	645						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGCCTACACCCCTCTGGACAG	0.642													82	77					0	0	0	0	T	47408308	C	T	47408308	2	4	328	1	0	0	0	0	0	0	0	1	16438	622	22	4		4	TNS3	7	47408308	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1660343	47408308	111730355	996	59210											
PKD1L1	168507	broad.mit.edu	37	chr7	47898282	47898282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacttaccaacaataaatCtgagatgactgtaattcctt	14	13	6	8	0	1	3	0	3	1	1	2	4	2	3	2	0	2	1	2	0	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:47898282C>T	ENST00000289672.2	-	27	4401	c.4351G>A	c.(4351-4353)Gat>Aat	p.D1451N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1451	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AACAATAAATCTGAGATGACT	0.388													34	75					0	0	0	0	T	47898282	C	T	47898282	3	4	328	1	0	0	0	0	1	0	0	0	12036	913	32	2	4322	2	PKD1L1	7	47898282	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	489974	47898282	111240381	997	59211											
PKD1L1	168507	broad.mit.edu	37	chr7	47913532	47913532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagtcatttccatggtagcgGggcagcacagtcaccaccac	10	7	10	14	1	2	0	2	0	0	0	3	0	3	0	3	3	2	3	3	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:47913532G>A	ENST00000289672.2	-	24	3911	c.3861C>T	c.(3859-3861)ccC>ccT	p.P1287P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1287	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATGGTAGCGGGGCAGCACAG	0.512													21	24					0	0	0	0	A	47913532	G	A	47913532	2	1	328	1	0	0	0	0	0	0	0	1	12036	1219	43	4		4	PKD1L1	7	47913532	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	15250	47913532	111225131	998	59212											
MRPS17	51373	broad.mit.edu	37	chr7	56020908	56020908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatgtccgtagttcgctcatCcgtccatgccagatggattg	8	12	10	11	3	1	1	1	0	0	1	5	2	4	2	4	1	1	3	4	1	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:56020908C>T	ENST00000285298.4	+	2	149	c.20C>T	c.(19-21)tCc>tTc	p.S7F	MRPS17_ENST00000426595.1_Missense_Mutation_p.S102F	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	7					translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTCGCTCATCCGTCCATGCC	0.433													72	68					0	0	0	0	T	56020908	C	T	56020908	3	4	328	1	0	0	0	0	1	0	0	0	9897	855	30	2	22	2	MRPS17	7	56020908	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	8107376	56020908	103117755	999	59213											
GUSB	2990	broad.mit.edu	37	chr7	65441106	65441106	+	Missense_Mutation	SNP	C	C	T																															ggtcccagtcccattcgccaCgactttgttttctgcatcca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:65441106C>T	ENST00000304895.4	-	5	938	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	GUSB_ENST00000345660.6_Missense_Mutation_p.V270M|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_5'UTR	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	270					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CCATTCGCCACGACTTTGTTT	0.517													17	60					0	0	0	0	T	65441106	C	T	65441106	3	4	328	1	0	0	0	0	1	0	0	0	6952	536	19	1	1179	1	GUSB	7	65441106	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	9420198	65441106	93697557	1000	59214	560	2									
GUSB	2990	broad.mit.edu	37	chr7	65441107	65441107	+	Silent	SNP	G	G	A																															gtcccagtcccattcgccacGactttgttttctgcatccaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:65441107G>A	ENST00000304895.4	-	5	937	c.807C>T	c.(805-807)gtC>gtT	p.V269V	GUSB_ENST00000345660.6_Silent_p.V269V|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_5'UTR	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	269					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CATTCGCCACGACTTTGTTTT	0.522													18	58					0	0	0	0	A	65441107	G	A	65441107	2	1	328	1	0	0	0	0	0	0	0	1	6952	1045	37	1		1	GUSB	7	65441107	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	65441107	93697556	1001	59215	560	2									
KCTD7	154881	broad.mit.edu	37	chr7	66264400	66264400	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtggtgaaggcgatcacAggtcagtgaaaccaagagcc	13	6	14	8	1	2	3	2	2	0	1	2	4	2	3	2	4	2	0	2	4	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:66264400A>T	ENST00000380828.2	+	9	1093	c.940_splice	c.e9+1	p.T313_splice	RABGEF1_ENST00000437078.2_Splice_Site_p.T287_splice|KCTD7_ENST00000451741.2_Splice_Site_p.T273_splice|KCTD7_ENST00000510829.2_Splice_Site_p.T273_splice|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000284957.5_Splice_Site_p.T273_splice|RABGEF1_ENST00000439720.2_Splice_Site_p.T286_splice|RABGEF1_ENST00000450873.2_Splice_Site_p.T273_splice			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	250						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGGCGATCACAGGTCAGTGAA	0.423													27	13					0	0	0	0	T	66264400	A	T	66264400	5	4	328	1	0	0	0	0	0	0	1	0	8167	202	7	5		5	KCTD7	7	66264400	Splice_Site	SNP	A	TCGA-CV-7568-01A-11D-2229-08	823293	66264400	92874263	1002	59216											
AUTS2	26053	broad.mit.edu	37	chr7	70249984	70249984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcatcacagcaacttcCtcaaccctgctgcccaccta	9	9	3	20	0	3	0	3	0	0	0	5	0	5	0	5	0	5	2	5	0	3	2	rs34479874		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:70249984C>T	ENST00000342771.4	+	16	2524	c.2203C>T	c.(2203-2205)Ctc>Ttc	p.L735F	AUTS2_ENST00000406775.2_Missense_Mutation_p.L711F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	735										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAGCAACTTCCTCAACCCTGC	0.517													39	40					0	0	0	0	T	70249984	C	T	70249984	3	4	328	1	0	0	0	0	1	0	0	0	1229	681	24	4	2410	4	AUTS2	7	70249984	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3985584	70249984	88888679	1003	59217											
WBSCR17	64409	broad.mit.edu	37	chr7	70880892	70880892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagctgaaggtccccCtagaggagtatgtccacaaa	13	6	12	10	0	0	3	0	1	0	2	2	5	2	5	3	3	1	2	3	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:70880892C>T	ENST00000333538.5	+	4	1241	c.607C>T	c.(607-609)Cta>Tta	p.L203L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	203	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAAGGTCCCCCTAGAGGAGTA	0.493													12	34					0	0	0	0	T	70880892	C	T	70880892	2	4	328	1	0	0	0	0	0	0	0	1	17360	680	24	4		4	WBSCR17	7	70880892	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	630908	70880892	88257771	1004	59218											
CALN1	83698	broad.mit.edu	37	chr7	71743683	71743683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccttaccatcgagctcctCcacggagatattagccagct	9	10	7	15	2	0	1	0	0	0	1	4	3	3	1	5	1	4	2	5	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:71743683C>T	ENST00000395275.2	-	3	620	c.232G>A	c.(232-234)Gag>Aag	p.E78K	CALN1_ENST00000329008.5_Missense_Mutation_p.E36K|CALN1_ENST00000412588.1_Missense_Mutation_p.E78K|CALN1_ENST00000405452.2_Missense_Mutation_p.E36K|CALN1_ENST00000431984.1_Missense_Mutation_p.E36K|CALN1_ENST00000395276.2_Missense_Mutation_p.E36K	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	36	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCGAGCTCCTCCACGGAGATA	0.562													22	47					0	0	0	0	T	71743683	C	T	71743683	3	4	328	1	0	0	0	0	1	0	0	0	2616	864	30	2	573	2	CALN1	7	71743683	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	862791	71743683	87394980	1005	59219											
TBL2	26608	broad.mit.edu	37	chr7	72985161	72985161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccaagacctgggcgttgggGgagagggccaggcggcacgg	7	3	21	10	3	0	2	0	0	0	2	0	3	0	2	3	7	0	2	3	7	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:72985161G>A	ENST00000305632.5	-	7	1261	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	TBL2_ENST00000432538.1_Silent_p.S304S|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	340										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGCGTTGGGGGAGAGGGCCA	0.617													44	90					0	0	0	0	A	72985161	G	A	72985161	2	1	328	1	0	0	0	0	0	0	0	1	15736	1219	43	4		4	TBL2	7	72985161	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1241478	72985161	86153502	1006	59220											
TBL2	26608	broad.mit.edu	37	chr7	72985581	72985581	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtggccctttagttcgaaGgctcgcaccacctcctggaa	8	9	11	13	2	0	0	0	0	0	0	3	3	1	1	4	3	0	3	4	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:72985581G>A	ENST00000305632.5	-	6	1057	c.816C>T	c.(814-816)gcC>gcT	p.A272A	TBL2_ENST00000432538.1_Silent_p.A236A|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	272										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTAGTTCGAAGGCTCGCACCA	0.547													20	45					0	0	0	0	A	72985581	G	A	72985581	2	1	328	1	0	0	0	0	0	0	0	1	15736	987	35	4		4	TBL2	7	72985581	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	420	72985581	86153082	1007	59221											
ELN	2006	broad.mit.edu	37	chr7	73474493	73474493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcaaaatccgctgccaagGtggctgccaaagcccagctc	11	5	10	15	1	0	0	0	0	0	0	2	0	1	0	4	2	5	4	4	2	4	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:73474493G>A	ENST00000252034.7	+	24	1999	c.1600G>A	c.(1600-1602)Gtg>Atg	p.V534M	ELN_ENST00000320492.7_Missense_Mutation_p.V453M|ELN_ENST00000358929.4_Missense_Mutation_p.V569M|ELN_ENST00000320399.6_Missense_Mutation_p.V534M|ELN_ENST00000445912.1_Missense_Mutation_p.V534M|ELN_ENST00000414324.1_Missense_Mutation_p.V510M|ELN_ENST00000458204.1_Missense_Mutation_p.V524M|ELN_ENST00000429192.1_Missense_Mutation_p.V520M|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000357036.5_Missense_Mutation_p.V539M|ELN_ENST00000380575.4_Missense_Mutation_p.V505M|ELN_ENST00000380584.4_Intron|ELN_ENST00000380562.4_Missense_Mutation_p.V540M|ELN_ENST00000380576.5_Missense_Mutation_p.V515M|ELN_ENST00000380553.4_Missense_Mutation_p.V398M	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	563	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CGCTGCCAAGGTGGCTGCCAA	0.642			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						64	77					0	0	0	0	A	73474493	G	A	73474493	3	1	328	1	0	0	0	0	1	0	0	0	5109	1261	44	4	1709	4	ELN	7	73474493	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	488912	73474493	85664170	1008	59222											
CCL24	6369	broad.mit.edu	37	chr7	75442721	75442721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacaaagaacatgcagcaggGagaggggatgaccacagagc	17	2	14	8	0	0	4	0	1	0	3	0	6	0	5	1	3	5	2	1	3	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:75442721G>A	ENST00000416943.1	-	3	187	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S	CCL24_ENST00000222902.2_Missense_Mutation_p.P32S	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	32					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						ATGCAGCAGGGAGAGGGGATG	0.557													23	67					0	0	0	0	A	75442721	G	A	75442721	3	1	328	1	0	0	0	0	1	0	0	0	2923	1174	41	2	271	2	CCL24	7	75442721	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1968228	75442721	83695942	1009	59223											
RHBDD2	57414	broad.mit.edu	37	chr7	75513015	75513015	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacttaacacgccaacctcaGatggcctcacctactgctat	11	9	5	16	1	2	1	2	0	0	1	2	1	2	1	4	1	4	1	4	1	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:75513015G>A	ENST00000318622.4	+	4	792		c.e4-1		RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000006777.6_Splice_Site|RHBDD2_ENST00000428119.1_Splice_Site	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2							integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						GCCAACCTCAGATGGCCTCAC	0.557													101	72					0	0	0	0	A	75513015	G	A	75513015	5	1	328	1	0	0	0	0	0	0	1	0	13400	956	33	2	596	2	RHBDD2	7	75513015	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	70294	75513015	83625648	1010	59224											
PTPN12	5782	broad.mit.edu	37	chr7	77240341	77240341	+	Missense_Mutation	SNP	C	C	T																															actatatgaaattcatggagCtcagaaaattgctgatggag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:77240341C>T	ENST00000248594.6	+	11	1189	c.917C>T	c.(916-918)gCt>gTt	p.A306V	PTPN12_ENST00000415482.2_Missense_Mutation_p.A187V|PTPN12_ENST00000435495.2_Missense_Mutation_p.A176V	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	306						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATTCATGGAGCTCAGAAAATT	0.318													60	93					0	0	0	0	T	77240341	C	T	77240341	3	4	328	1	0	0	0	0	1	0	0	0	12861	797	28	4	959	4	PTPN12	7	77240341	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1727326	77240341	81898322	1011	59225	561	2									
PTPN12	5782	broad.mit.edu	37	chr7	77240343	77240343	+	Nonsense_Mutation	SNP	C	C	T																															tatatgaaattcatggagctCagaaaattgctgatggagtg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:77240343C>T	ENST00000248594.6	+	11	1191	c.919C>T	c.(919-921)Cag>Tag	p.Q307*	PTPN12_ENST00000415482.2_Nonsense_Mutation_p.Q188*|PTPN12_ENST00000435495.2_Nonsense_Mutation_p.Q177*	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	307						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCATGGAGCTCAGAAAATTGC	0.323													59	93					0	0	0	0	T	77240343	C	T	77240343	4	4	328	1	0	0	0	0	0	1	0	0	12861	827	29	2	961	2	PTPN12	7	77240343	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2	77240343	81898320	1012	59226	561	2									
SEMA3C	10512	broad.mit.edu	37	chr7	80546088	80546088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccaacacgcaaattgtccGgaatgccatttcttcagata	14	10	6	11	2	2	1	1	0	1	1	3	2	3	2	3	1	3	1	3	1	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:80546088G>A	ENST00000265361.3	-	2	571	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	SEMA3C_ENST00000536800.1_5'UTR|SEMA3C_ENST00000419255.2_Missense_Mutation_p.R4W|SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R22W	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	4					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAAATTGTCCGGAATGCCATT	0.358													46	58					0	0	0	0	A	80546088	G	A	80546088	3	1	328	1	0	0	0	0	1	0	0	0	14113	1115	39	1	2313	1	SEMA3C	7	80546088	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3305745	80546088	78592575	1013	59227											
PCLO	27445	broad.mit.edu	37	chr7	82763683	82763683	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttgagttcagttttgcaGagaggacaggttgattctgg	9	14	14	4	0	2	3	1	2	1	1	2	5	2	4	0	3	1	5	0	3	0	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:82763683G>A	ENST00000423517.2	-	3	3520	c.3183C>T	c.(3181-3183)ctC>ctT	p.L1061L	PCLO_ENST00000333891.8_Silent_p.L1061L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1007					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGTTTTGCAGAGAGGACAGG	0.418													14	19					0	0	0	0	A	82763683	G	A	82763683	2	1	328	1	0	0	0	0	0	0	0	1	11654	929	33	2		2	PCLO	7	82763683	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2217595	82763683	76374980	1014	59228											
SEMA3D	223117	broad.mit.edu	37	chr7	84666252	84666252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccatcatactgcacccaacGatggtctgcactttccttat	9	12	5	15	1	2	0	1	0	1	0	3	1	3	0	3	1	4	2	3	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:84666252G>A	ENST00000284136.6	-	10	1187	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	382	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGCACCCAACGATGGTCTGCA	0.398													35	60					0	0	0	0	A	84666252	G	A	84666252	3	1	328	1	0	0	0	0	1	0	0	0	14114	1058	37	1	1221	1	SEMA3D	7	84666252	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1902569	84666252	74472411	1015	59229											
KIAA1324L	222223	broad.mit.edu	37	chr7	86539170	86539170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggattgtgatgataaggCtgctcggaaacccttacttt	10	13	11	7	1	0	2	0	2	0	0	1	5	0	4	1	3	3	2	1	3	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:86539170C>T	ENST00000450689.2	-	16	2502	c.2317G>A	c.(2317-2319)Gcc>Acc	p.A773T	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.A606T|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.A533T|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.A702T	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	773						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GATGATAAGGCTGCTCGGAAA	0.368													62	83					0	0	0	0	T	86539170	C	T	86539170	3	4	328	1	0	0	0	0	1	0	0	0	8275	797	28	4	800	4	KIAA1324L	7	86539170	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1872918	86539170	72599493	1016	59230											
ZNF804B	219578	broad.mit.edu	37	chr7	88847469	88847469	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttatgtattttttcttaaagGattttgcagaaaagaagtcc	13	17	7	4	0	1	2	0	0	1	2	2	3	2	3	1	1	1	2	1	1	7	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:88847469G>A	ENST00000333190.4	+	2	718	c.108_splice	c.e2-1	p.D37_splice		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	37						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTCTTAAAGGATTTTGCAGA	0.348										HNSCC(36;0.09)			24	39					0	0	0	0	A	88847469	G	A	88847469	5	1	328	1	0	0	0	0	0	0	1	0	18264	1188	41	2	115	2	ZNF804B	7	88847469	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2308299	88847469	70291194	1017	59231											
ZNF804B	219578	broad.mit.edu	37	chr7	88963595	88963595	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtaaaagaagcatgtacCcataatgtggcatctaaacc	15	10	7	9	0	1	1	0	0	1	1	1	1	1	1	2	1	3	4	2	1	7	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:88963595C>T	ENST00000333190.4	+	4	1908	c.1299C>T	c.(1297-1299)acC>acT	p.T433T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	433						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGCATGTACCCATAATGTGG	0.373										HNSCC(36;0.09)			35	35					0	0	0	0	T	88963595	C	T	88963595	2	4	328	1	0	0	0	0	0	0	0	1	18264	610	22	4		4	ZNF804B	7	88963595	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	116126	88963595	70175068	1018	59232											
ZNF804B	219578	broad.mit.edu	37	chr7	88966298	88966298	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctctagccagatgcaacaGctaaatgaagtgaaagaggc	15	7	11	8	0	1	4	0	2	1	2	1	4	1	4	1	1	5	3	1	1	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:88966298G>A	ENST00000333190.4	+	4	4611	c.4002G>A	c.(4000-4002)caG>caA	p.Q1334Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1334						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGATGCAACAGCTAAATGAAG	0.383										HNSCC(36;0.09)			30	73					0	0	0	0	A	88966298	G	A	88966298	2	1	328	1	0	0	0	0	0	0	0	1	18264	962	34	4		4	ZNF804B	7	88966298	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2703	88966298	70172365	1019	59233											
HEPACAM2	253012	broad.mit.edu	37	chr7	92826823	92826823	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagggttgatattttttccaTaggaagagaagacacatgga	14	12	11	4	0	0	3	0	1	0	2	1	6	1	5	1	3	0	1	1	3	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:92826823T>A	ENST00000394468.2	-	5	1190	c.1113A>T	c.(1111-1113)ctA>ctT	p.L371L	HEPACAM2_ENST00000341723.4_Silent_p.L359L|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000440868.1_Silent_p.L359L|HEPACAM2_ENST00000453812.2_Silent_p.L394L	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	371						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						ATTTTTTCCATAGGAAGAGAA	0.308													22	28					0	0	0	0	A	92826823	T	A	92826823	2	1	328	1	0	0	0	0	0	0	0	1	7103	1393	49	5		5	HEPACAM2	7	92826823	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	3860525	92826823	66311840	1020	59234											
HEPACAM2	253012	broad.mit.edu	37	chr7	92848478	92848478	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttccctgaatgttgaccttCacgatgtaattgccttcatc	8	16	6	11	1	2	2	2	2	0	0	4	3	3	2	3	0	1	2	3	0	2	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:92848478C>T	ENST00000394468.2	-	2	443	c.366G>A	c.(364-366)gtG>gtA	p.V122V	HEPACAM2_ENST00000341723.4_Silent_p.V110V|HEPACAM2_ENST00000440868.1_Silent_p.V110V|HEPACAM2_ENST00000453812.2_Silent_p.V145V	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	122						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGTTGACCTTCACGATGTAAT	0.478													37	32					0	0	0	0	T	92848478	C	T	92848478	2	4	328	1	0	0	0	0	0	0	0	1	7103	813	29	2		2	HEPACAM2	7	92848478	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	21655	92848478	66290185	1021	59235											
CCDC132	55610	broad.mit.edu	37	chr7	92983007	92983007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctaagagagttcgcatacCcttgcctgtgtctaatatac	10	14	7	10	1	2	1	0	0	2	1	3	2	2	1	2	0	3	2	2	0	5	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:92983007C>T	ENST00000544910.1	+	27	2649	c.2429C>T	c.(2428-2430)cCc>cTc	p.P810L	CCDC132_ENST00000535481.1_Missense_Mutation_p.P560L|CCDC132_ENST00000305866.5_Missense_Mutation_p.P840L|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_3'UTR	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	840										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTCGCATACCCTTGCCTGTG	0.343													63	86					0	0	0	0	T	92983007	C	T	92983007	3	4	328	1	0	0	0	0	1	0	0	0	2792	623	22	4	2663	4	CCDC132	7	92983007	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	134529	92983007	66155656	1022	59236											
COL1A2	1278	broad.mit.edu	37	chr7	94053707	94053707	+	Silent	SNP	C	C	T																															gctcctggtattctgggtctCcctggctcgagaggtgaacg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:94053707C>T	ENST00000297268.6	+	41	3096	c.2625C>T	c.(2623-2625)ctC>ctT	p.L875L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	875					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTCTGGGTCTCCCTGGCTCGA	0.468										HNSCC(75;0.22)			29	97					0	0	0	0	T	94053707	C	T	94053707	2	4	328	1	0	0	0	0	0	0	0	1	3708	842	30	2		2	COL1A2	7	94053707	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1070700	94053707	65084956	1023	59237	562	2									
COL1A2	1278	broad.mit.edu	37	chr7	94053708	94053708	+	Missense_Mutation	SNP	C	C	T																															ctcctggtattctgggtctcCctggctcgagaggtgaacgt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:94053708C>T	ENST00000297268.6	+	41	3097	c.2626C>T	c.(2626-2628)Cct>Tct	p.P876S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	876					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTGGGTCTCCCTGGCTCGAG	0.473										HNSCC(75;0.22)			29	98					0	0	0	0	T	94053708	C	T	94053708	3	4	328	1	0	0	0	0	1	0	0	0	3708	623	22	4	2788	4	COL1A2	7	94053708	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	94053708	65084955	1024	59238	562	2									
DYNC1I1	1780	broad.mit.edu	37	chr7	95606909	95606909	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaaaacaggaagtgaaGgaaggtatgatatggaaaat	21	6	12	2	0	0	2	0	2	0	0	0	6	0	5	0	4	1	1	0	4	10	2	rs150145925		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:95606909G>A	ENST00000324972.6	+	7	820	c.627G>A	c.(625-627)aaG>aaA	p.K209K	DYNC1I1_ENST00000457059.1_Silent_p.K192K|DYNC1I1_ENST00000437599.1_Silent_p.K189K|DYNC1I1_ENST00000447467.2_Silent_p.K192K|DYNC1I1_ENST00000359388.4_Silent_p.K172K|DYNC1I1_ENST00000537881.1_Silent_p.K172K	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	209					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AGGAAGTGAAGGAAGGTATGA	0.328													21	24					0	0	0	0	A	95606909	G	A	95606909	2	1	328	1	0	0	0	0	0	0	0	1	4878	991	35	4		4	DYNC1I1	7	95606909	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1553201	95606909	63531754	1025	59239											
TECPR1	25851	broad.mit.edu	37	chr7	97861194	97861194	+	Silent	SNP	G	G	A																															tgccccgtgaactgctccagGgccaagcgcacgtccaccca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:97861194G>A	ENST00000447648.2	-	13	2195	c.1896C>T	c.(1894-1896)gcC>gcT	p.A632A	TECPR1_ENST00000542604.1_Silent_p.A562A|TECPR1_ENST00000379795.3_Silent_p.A633A			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	632	PH.					integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACTGCTCCAGGGCCAAGCGCA	0.662													27	40					0	0	0	0	A	97861194	G	A	97861194	2	1	328	1	0	0	0	0	0	0	0	1	15837	1219	43	4		4	TECPR1	7	97861194	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2254285	97861194	61277469	1026	59240	563	2									
TECPR1	25851	broad.mit.edu	37	chr7	97861195	97861195	+	Missense_Mutation	SNP	G	G	A																															gccccgtgaactgctccaggGccaagcgcacgtccacccac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:97861195G>A	ENST00000447648.2	-	13	2194	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	TECPR1_ENST00000542604.1_Missense_Mutation_p.A562V|TECPR1_ENST00000379795.3_Missense_Mutation_p.A633V			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	632	PH.					integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGCTCCAGGGCCAAGCGCAC	0.657													27	39					0	0	0	0	A	97861195	G	A	97861195	3	1	328	1	0	0	0	0	1	0	0	0	15837	1203	42	4	1658	4	TECPR1	7	97861195	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	97861195	61277468	1027	59241	563	2									
ZSCAN21	7589	broad.mit.edu	37	chr7	99654655	99654655	+	Missense_Mutation	SNP	C	C	T																															gaccaaggtactaggcatggCcccagttctgggccctaggc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:99654655C>T	ENST00000292450.4	+	2	190	c.26C>T	c.(25-27)gCc>gTc	p.A9V	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.A9V|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.A9V|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	9					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CTAGGCATGGCCCCAGTTCTG	0.527													72	171					0	0	0	0	T	99654655	C	T	99654655	3	4	328	1	0	0	0	0	1	0	0	0	18325	739	26	4	28	4	ZSCAN21	7	99654655	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1793460	99654655	59484008	1028	59242	564	2									
ZSCAN21	7589	broad.mit.edu	37	chr7	99654656	99654656	+	Silent	SNP	C	C	T																															accaaggtactaggcatggcCccagttctgggccctaggcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:99654656C>T	ENST00000292450.4	+	2	191	c.27C>T	c.(25-27)gcC>gcT	p.A9A	ZSCAN21_ENST00000456748.2_Silent_p.A9A|ZSCAN21_ENST00000543588.1_Silent_p.A9A|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	9					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TAGGCATGGCCCCAGTTCTGG	0.527													74	172					0	0	0	0	T	99654656	C	T	99654656	2	4	328	1	0	0	0	0	0	0	0	1	18325	610	22	4		4	ZSCAN21	7	99654656	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	99654656	59484007	1029	59243	564	2									
SLC12A9	56996	broad.mit.edu	37	chr7	100452246	100452246	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgctcctgcctcagggttCgtggtgggtcatgctgggct	2	12	16	11	1	2	0	2	0	0	0	4	0	3	0	2	4	3	5	2	4	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100452246C>T	ENST00000354161.3	+	3	311	c.186C>T	c.(184-186)ttC>ttT	p.F62F	SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000428758.1_Silent_p.F62F|SLC12A9_ENST00000540482.1_Silent_p.F62F|SLC12A9_ENST00000415287.1_Intron	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	62						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTCAGGGTTCGTGGTGGGTC	0.607													37	56					0	0	0	0	T	100452246	C	T	100452246	2	4	328	1	0	0	0	0	0	0	0	1	14478	883	31	1		1	SLC12A9	7	100452246	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	797590	100452246	58686417	1030	59244											
SLC12A9	56996	broad.mit.edu	37	chr7	100459377	100459377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgcgtaagtatctgcttCggctggacgtccggaaggat	8	10	15	8	4	1	0	0	0	1	0	3	3	2	3	1	5	2	4	1	5	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100459377C>T	ENST00000354161.3	+	12	1680	c.1555C>T	c.(1555-1557)Cgg>Tgg	p.R519W	SLC12A9_ENST00000275729.3_Missense_Mutation_p.R430W|SLC12A9_ENST00000428758.1_Missense_Mutation_p.R519W|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R519W|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R430W	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	519						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTATCTGCTTCGGCTGGACGT	0.647													61	95					0	0	0	0	T	100459377	C	T	100459377	3	4	328	1	0	0	0	0	1	0	0	0	14478	875	31	1	1597	1	SLC12A9	7	100459377	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7131	100459377	58679286	1031	59245											
MUC17	140453	broad.mit.edu	37	chr7	100683237	100683237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgaccacttctactaaagCcagttcatctcctacaactg	11	12	5	13	0	3	1	1	1	2	0	4	1	3	1	3	0	4	1	3	0	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100683237C>T	ENST00000306151.4	+	3	8604	c.8540C>T	c.(8539-8541)gCc>gTc	p.A2847V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2847	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A2847G(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTACTAAAGCCAGTTCATCT	0.502													135	295					0	0	0	0	T	100683237	C	T	100683237	3	4	328	1	0	0	0	0	1	0	0	0	10044	739	26	4	8550	4	MUC17	7	100683237	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	223860	100683237	58455426	1032	59246											
MUC17	140453	broad.mit.edu	37	chr7	100686756	100686756	+	Missense_Mutation	SNP	G	G	A																															acccagaacaaccagcagagGctgcactacttctgcatcaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100686756G>A	ENST00000306151.4	+	3	12123	c.12059G>A	c.(12058-12060)gGc>gAc	p.G4020D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4020						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCAGCAGAGGCTGCACTACT	0.522													57	90					0	0	0	0	A	100686756	G	A	100686756	3	1	328	1	0	0	0	0	1	0	0	0	10044	1203	42	4	12069	4	MUC17	7	100686756	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3519	100686756	58451907	1033	59247	565	2									
MUC17	140453	broad.mit.edu	37	chr7	100686757	100686757	+	Silent	SNP	C	C	A																															cccagaacaaccagcagaggCtgcactacttctgcatcaac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100686757C>A	ENST00000306151.4	+	3	12124	c.12060C>A	c.(12058-12060)ggC>ggA	p.G4020G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4020						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGCAGAGGCTGCACTACTT	0.527													57	91					2.30037e-20	2.34744e-20	1	0	A	100686757	C	A	100686757	2	1	328	1	0	0	0	0	0	0	0	1	10044	784	28	4		4	MUC17	7	100686757	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	100686757	58451906	1034	59248	565	2									
TRIM56	81844	broad.mit.edu	37	chr7	100732060	100732060	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggctctggcctcctcccCagacccatcttttactgcag	6	10	8	17	1	2	1	0	0	2	1	4	2	4	1	5	2	2	2	5	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100732060C>T	ENST00000306085.6	+	3	1764	c.1467C>T	c.(1465-1467)ccC>ccT	p.P489P		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	489					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCTCCTCCCCAGACCCATCT	0.622													81	97					0	0	0	0	T	100732060	C	T	100732060	2	4	328	1	0	0	0	0	0	0	0	1	16625	581	21	4		4	TRIM56	7	100732060	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	45303	100732060	58406603	1035	59249											
SERPINE1	5054	broad.mit.edu	37	chr7	100775222	100775222	+	Missense_Mutation	SNP	C	C	T																															acggctggtgctggtgaatgCcctctacttcaacggccagt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100775222C>T	ENST00000223095.4	+	4	729	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SERPINE1_ENST00000445463.2_Missense_Mutation_p.A176V	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	191					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CTGGTGAATGCCCTCTACTTC	0.557													74	160					0	0	0	0	T	100775222	C	T	100775222	3	4	328	1	0	0	0	0	1	0	0	0	14198	739	26	4	582	4	SERPINE1	7	100775222	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	43162	100775222	58363441	1036	59250	566	2									
SERPINE1	5054	broad.mit.edu	37	chr7	100775223	100775223	+	Silent	SNP	C	C	T																															cggctggtgctggtgaatgcCctctacttcaacggccagtg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100775223C>T	ENST00000223095.4	+	4	730	c.573C>T	c.(571-573)gcC>gcT	p.A191A	SERPINE1_ENST00000445463.2_Silent_p.A176A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	191					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TGGTGAATGCCCTCTACTTCA	0.557													74	162					0	0	0	0	T	100775223	C	T	100775223	2	4	328	1	0	0	0	0	0	0	0	1	14198	610	22	4		4	SERPINE1	7	100775223	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	100775223	58363440	1037	59251	566	2									
CUX1	1523	broad.mit.edu	37	chr7	101845342	101845342	+	Missense_Mutation	SNP	C	C	T																															gatcgtgcccatgtccaagcCcaccaagccctcggtccccc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:101845342C>T	ENST00000360264.3	+	18	2818	c.2798C>T	c.(2797-2799)cCc>cTc	p.P933L	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P764L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.P866L|CUX1_ENST00000549414.2_Missense_Mutation_p.P900L|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P922L|CUX1_ENST00000546411.2_Missense_Mutation_p.P820L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	922					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATGTCCAAGCCCACCAAGCCC	0.637													40	91					0	0	0	0	T	101845342	C	T	101845342	3	4	328	1	0	0	0	0	1	0	0	0	4096	623	22	4	2902	4	CUX1	7	101845342	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1070119	101845342	57293321	1038	59252	567	2									
CUX1	1523	broad.mit.edu	37	chr7	101845343	101845343	+	Silent	SNP	C	C	T																															atcgtgcccatgtccaagccCaccaagccctcggtcccccc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:101845343C>T	ENST00000360264.3	+	18	2819	c.2799C>T	c.(2797-2799)ccC>ccT	p.P933P	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Silent_p.P764P|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000550008.2_Silent_p.P866P|CUX1_ENST00000549414.2_Silent_p.P900P|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292535.7_Silent_p.P922P|CUX1_ENST00000546411.2_Silent_p.P820P	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	922					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGTCCAAGCCCACCAAGCCCT	0.642													40	91					0	0	0	0	T	101845343	C	T	101845343	2	4	328	1	0	0	0	0	0	0	0	1	4096	581	21	4		4	CUX1	7	101845343	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	101845343	57293320	1039	59253	567	2									
DNAJC2	27000	broad.mit.edu	37	chr7	102963025	102963025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttttctgcttctttcttgGctttttcttcttccttgaac	2	24	4	11	0	6	1	0	1	6	0	7	1	7	1	1	1	2	2	1	1	1	10			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:102963025G>A	ENST00000379263.3	-	9	1116	c.866C>T	c.(865-867)gCc>gTc	p.A289V	DNAJC2_ENST00000249270.7_Missense_Mutation_p.A289V|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	289					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ttctttcttggctttttcttc	0.328													9	14					0	0	0	0	A	102963025	G	A	102963025	3	1	328	1	0	0	0	0	1	0	0	0	4675	1203	42	4	1035	4	DNAJC2	7	102963025	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1117682	102963025	56175638	1040	59254											
RELN	5649	broad.mit.edu	37	chr7	103243847	103243847	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acttcttgccagtcagactcCcagccattctggttctcaaa	9	12	6	14	0	4	1	2	0	3	1	6	1	5	1	3	1	2	1	3	1	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:103243847C>T	ENST00000424685.2	-	24	3396	c.3237G>A	c.(3235-3237)tgG>tgA	p.W1079*	RELN_ENST00000428762.1_Nonsense_Mutation_p.W1079*|RELN_ENST00000343529.5_Nonsense_Mutation_p.W1079*			P78509	RELN_HUMAN	reelin	1079					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTCAGACTCCCAGCCATTCT	0.478													45	85					0	0	0	0	T	103243847	C	T	103243847	4	4	328	1	0	0	0	0	0	1	0	0	13302	624	22	4	7313	4	RELN	7	103243847	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	280822	103243847	55894816	1041	59255											
RELN	5649	broad.mit.edu	37	chr7	103301848	103301848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaaagtaaaacctcaggttCccataaccggtagtgtccat	14	9	7	11	1	1	0	1	0	0	0	3	0	3	0	4	2	2	3	4	2	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:103301848C>T	ENST00000424685.2	-	12	1575	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G	RELN_ENST00000428762.1_Silent_p.G472G|RELN_ENST00000343529.5_Silent_p.G472G			P78509	RELN_HUMAN	reelin	472					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACCTCAGGTTCCCATAACCGG	0.438													25	63					0	0	0	0	T	103301848	C	T	103301848	2	4	328	1	0	0	0	0	0	0	0	1	13302	842	30	2		2	RELN	7	103301848	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	58001	103301848	55836815	1042	59256											
LHFPL3	375612	broad.mit.edu	37	chr7	104377191	104377191	+	Missense_Mutation	SNP	G	G	A																															agatgaagtaaaacggatgtGtggagaaaagacagacaagt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:104377191G>A	ENST00000535008.1	+	4	639	c.515G>A	c.(514-516)tGt>tAt	p.C172Y	LHFPL3_ENST00000401970.2_Missense_Mutation_p.C158Y|LHFPL3_ENST00000543266.1_Missense_Mutation_p.C172Y|LHFPL3_ENST00000424859.1_Missense_Mutation_p.C158Y			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	158						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						AAACGGATGTGTGGAGAAAAG	0.458													10	21					0	0	0	0	A	104377191	G	A	104377191	3	1	328	1	0	0	0	0	1	0	0	0	8820	1377	48	4	521	4	LHFPL3	7	104377191	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1075343	104377191	54761472	1043	59257	568	2									
LHFPL3	375612	broad.mit.edu	37	chr7	104377192	104377192	+	Nonsense_Mutation	SNP	T	T	A																															gatgaagtaaaacggatgtgTggagaaaagacagacaagta																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:104377192T>A	ENST00000535008.1	+	4	640	c.516T>A	c.(514-516)tgT>tgA	p.C172*	LHFPL3_ENST00000401970.2_Nonsense_Mutation_p.C158*|LHFPL3_ENST00000543266.1_Nonsense_Mutation_p.C172*|LHFPL3_ENST00000424859.1_Nonsense_Mutation_p.C158*			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	158						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						AACGGATGTGTGGAGAAAAGA	0.463													10	21					0	0	0	0	A	104377192	T	A	104377192	4	1	328	1	0	0	0	0	0	1	0	0	8820	1702	59	5	522	5	LHFPL3	7	104377192	Nonsense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1	104377192	54761471	1044	59258	568	2									
PIK3CG	5294	broad.mit.edu	37	chr7	106509197	106509197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caacaagtcctttgccaaagGagaaccagccccaaaccctt	14	6	6	15	0	0	1	0	0	0	1	1	2	1	1	6	1	5	0	6	1	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:106509197G>T	ENST00000359195.3	+	2	1501	c.1191G>T	c.(1189-1191)agG>agT	p.R397S	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R397S|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R397S	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	397					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTTGCCAAAGGAGAACCAGCC	0.507													28	36					1.75199e-13	1.77698e-13	1	0	T	106509197	G	T	106509197	3	4	328	1	0	0	0	0	1	0	0	0	11988	1165	41	2	1193	2	PIK3CG	7	106509197	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2132005	106509197	52629466	1045	59259											
PIK3CG	5294	broad.mit.edu	37	chr7	106526692	106526692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgacttcctctttgtgatGggaacttctggaaagaagac	10	12	10	9	0	2	4	0	2	2	2	3	6	3	6	2	2	1	0	2	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:106526692G>A	ENST00000359195.3	+	10	3295	c.2985G>A	c.(2983-2985)atG>atA	p.M995I	PIK3CG_ENST00000496166.1_Missense_Mutation_p.M995I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.M995I	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	995	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCTTTGTGATGGGAACTTCTG	0.453													15	49					0	0	0	0	A	106526692	G	A	106526692	3	1	328	1	0	0	0	0	1	0	0	0	11988	1348	47	4	3019	4	PIK3CG	7	106526692	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	17495	106526692	52611971	1046	59260											
HBP1	26959	broad.mit.edu	37	chr7	106826888	106826888	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatggtgcaattcctggcCttcaactgtctggcactgtt	6	13	12	10	0	2	0	1	0	1	0	3	1	3	1	2	4	2	3	2	4	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:106826888C>G	ENST00000222574.4	+	5	809	c.623C>G	c.(622-624)cCt>cGt	p.P208R	HBP1_ENST00000468410.1_Missense_Mutation_p.P208R|HBP1_ENST00000485846.1_Missense_Mutation_p.P208R	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	208	AXH.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						AATTCCTGGCCTTCAACTGTC	0.388													61	73					0	0	0	0	G	106826888	C	G	106826888	3	3	328	1	0	0	0	0	1	0	0	0	7035	681	24	4	637	4	HBP1	7	106826888	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	300196	106826888	52311775	1047	59261											
LRRN3	54674	broad.mit.edu	37	chr7	110764643	110764643	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcagaaaaacagaaaaaaAtgtgtaaatgtcaccaccaa	22	7	5	7	0	2	2	2	0	0	2	2	2	2	2	2	0	1	1	2	0	9	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:110764643A>T	ENST00000451085.1	+	4	2861	c.1815A>T	c.(1813-1815)aaA>aaT	p.K605N	LRRN3_ENST00000422987.3_Missense_Mutation_p.K605N|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.K605N|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	605	Fibronectin type-III.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACAGAAAAAAATGTGTAAATG	0.363													19	45					0	0	0	0	T	110764643	A	T	110764643	3	4	328	1	0	0	0	0	1	0	0	0	9100	98	4	5	1817	5	LRRN3	7	110764643	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	3937755	110764643	48374020	1048	59262											
TMEM168	64418	broad.mit.edu	37	chr7	112424024	112424024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataccagaggtgagtgtctCtaagtttgaatgcggaaaga	14	10	12	5	1	1	4	0	2	1	2	2	5	1	5	1	2	2	1	1	2	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:112424024C>T	ENST00000312814.5	-	2	1417	c.857G>A	c.(856-858)aGa>aAa	p.R286K	TMEM168_ENST00000454074.1_Missense_Mutation_p.R286K	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	286						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GTGAGTGTCTCTAAGTTTGAA	0.343													85	172					0	0	0	0	T	112424024	C	T	112424024	3	4	328	1	0	0	0	0	1	0	0	0	16177	913	32	2	1252	2	TMEM168	7	112424024	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1659381	112424024	46714639	1049	59263											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519998	113519998	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtaaaaatctccctttacGgagctttctgctgatgaact	11	13	7	10	1	2	2	0	2	2	0	3	3	2	3	1	1	4	3	1	1	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:113519998G>A	ENST00000284601.3	-	4	1217	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	383					glycogen metabolic process	integral to membrane		p.S383S(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTCCCTTTACGGAGCTTTCTG	0.398													68	123					0	0	0	0	A	113519998	G	A	113519998	2	1	328	1	0	0	0	0	0	0	0	1	12447	1103	39	1		1	PPP1R3A	7	113519998	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1095974	113519998	45618665	1050	59264											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558353	113558353	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctccggctcttgttctttCttttgacaaatgaatgtata	8	17	8	8	1	3	2	0	2	3	0	4	2	4	2	1	2	0	4	1	2	4	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:113558353C>T	ENST00000284601.3	-	1	767	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	233					glycogen metabolic process	integral to membrane		p.K233N(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTGTTCTTTCTTTTGACAAA	0.338													49	100					0	0	0	0	T	113558353	C	T	113558353	2	4	328	1	0	0	0	0	0	0	0	1	12447	912	32	2		2	PPP1R3A	7	113558353	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	38355	113558353	45580310	1051	59265											
CTTNBP2	83992	broad.mit.edu	37	chr7	117420625	117420625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattaatgttagcatcatatGaaattaataattctacacac	17	14	4	6	0	2	1	1	1	1	0	2	2	2	1	0	0	2	2	0	0	7	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:117420625G>A	ENST00000160373.3	-	7	2484	c.2393C>T	c.(2392-2394)tCa>tTa	p.S798L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	798										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGCATCATATGAAATTAATAA	0.338													29	59					0	0	0	0	A	117420625	G	A	117420625	3	1	328	1	0	0	0	0	1	0	0	0	4077	1294	45	2	2666	2	CTTNBP2	7	117420625	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3862272	117420625	41718038	1052	59266											
TSPAN12	23554	broad.mit.edu	37	chr7	120428813	120428813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccccggctcccttctatCataatacagagcccagagca	10	9	7	15	1	2	2	1	0	1	2	4	2	4	2	4	1	3	2	4	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:120428813C>T	ENST00000222747.3	-	8	1358	c.751G>A	c.(751-753)Gat>Aat	p.D251N	TSPAN12_ENST00000415871.1_Missense_Mutation_p.D251N	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	251					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TCCCTTCTATCATAATACAGA	0.488													31	55					0	0	0	0	T	120428813	C	T	120428813	3	4	328	1	0	0	0	0	1	0	0	0	16731	826	29	2	170	2	TSPAN12	7	120428813	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3008188	120428813	38709850	1053	59267											
AASS	10157	broad.mit.edu	37	chr7	121756701	121756701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcacatcagtattaaaacGacttatgtagcgctccggat	13	11	7	10	3	2	0	2	0	0	0	3	2	3	1	1	1	2	3	1	1	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:121756701G>A	ENST00000393376.1	-	7	975	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	AASS_ENST00000417368.2_Missense_Mutation_p.R294C|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	294	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTATTAAAACGACTTATGTAG	0.388													29	46					0	0	0	0	A	121756701	G	A	121756701	3	1	328	1	0	0	0	0	1	0	0	0	24	1058	37	1	1968	1	AASS	7	121756701	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1327888	121756701	37381962	1054	59268											
CADPS2	93664	broad.mit.edu	37	chr7	122047602	122047602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaatgctcactgtcatttCggaggaaattattaagcagt	13	12	9	7	1	2	0	2	0	0	0	3	2	2	2	0	2	2	3	0	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:122047602C>T	ENST00000334010.7	-	18	3153	c.2732G>A	c.(2731-2733)cGa>cAa	p.R911Q	CADPS2_ENST00000449022.2_Missense_Mutation_p.R913Q|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.R907Q|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.R907Q	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	913	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ACTGTCATTTCGGAGGAAATT	0.443													8	10					0	0	0	0	T	122047602	C	T	122047602	3	4	328	1	0	0	0	0	1	0	0	0	2596	884	31	1	1215	1	CADPS2	7	122047602	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	290901	122047602	37091061	1055	59269											
IQUB	154865	broad.mit.edu	37	chr7	123092827	123092827	+	Silent	SNP	C	C	T																															ggcctctgggattctataatCttaggtgttgtgtctgagtg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:123092827C>T	ENST00000466202.1	-	13	2922	c.2346G>A	c.(2344-2346)aaG>aaA	p.K782K	IQUB_ENST00000324698.6_Silent_p.K782K			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	782										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATTCTATAATCTTAGGTGTTG	0.403													25	31					0	0	0	0	T	123092827	C	T	123092827	2	4	328	1	0	0	0	0	0	0	0	1	7873	912	32	2		2	IQUB	7	123092827	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1045225	123092827	36045836	1056	59270	569	2									
IQUB	154865	broad.mit.edu	37	chr7	123092828	123092828	+	Missense_Mutation	SNP	T	T	A																															gcctctgggattctataatcTtaggtgttgtgtctgagtga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:123092828T>A	ENST00000466202.1	-	13	2921	c.2345A>T	c.(2344-2346)aAg>aTg	p.K782M	IQUB_ENST00000324698.6_Missense_Mutation_p.K782M			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	782										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCTATAATCTTAGGTGTTGT	0.398													25	29					0	0	0	0	A	123092828	T	A	123092828	3	1	328	1	0	0	0	0	1	0	0	0	7873	1609	56	5	34	5	IQUB	7	123092828	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1	123092828	36045835	1057	59271	569	2									
IQUB	154865	broad.mit.edu	37	chr7	123101505	123101505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtacttcaaaaatgattctCgtttttgagcctcattctga	10	17	6	8	1	4	3	2	3	2	0	5	3	4	3	1	0	2	2	1	0	3	6	rs60409072	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:123101505C>T	ENST00000466202.1	-	11	2489	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	IQUB_ENST00000324698.6_Missense_Mutation_p.R638Q			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	638										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AAATGATTCTCGTTTTTGAGC	0.378													36	45					0	0	0	0	T	123101505	C	T	123101505	3	4	328	1	0	0	0	0	1	0	0	0	7873	884	31	1	474	1	IQUB	7	123101505	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	8677	123101505	36037158	1058	59272											
IQUB	154865	broad.mit.edu	37	chr7	123152129	123152129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgatgttgcggagtatatGaaacttgtcttggtgatata	11	15	11	4	1	1	3	0	3	1	0	1	4	1	4	0	2	2	2	0	2	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:123152129G>A	ENST00000466202.1	-	2	842	c.266C>T	c.(265-267)tCa>tTa	p.S89L	IQUB_ENST00000324698.6_Missense_Mutation_p.S89L|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.S89L			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	89										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CGGAGTATATGAAACTTGTCT	0.388													41	100					0	0	0	0	A	123152129	G	A	123152129	3	1	328	1	0	0	0	0	1	0	0	0	7873	1294	45	2	2157	2	IQUB	7	123152129	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	50624	123152129	35986534	1059	59273											
SND1	27044	broad.mit.edu	37	chr7	127569372	127569372	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaacttgccttatcaccttCttgcttgcaggtaagtctta	9	15	7	10	0	3	0	1	0	2	0	3	1	3	0	2	1	4	3	2	1	4	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:127569372C>T	ENST00000354725.3	+	15	1853	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	553	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	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						TTATCACCTTCTTGCTTGCAG	0.473													67	144					0	0	0	0	T	127569372	C	T	127569372	2	4	328	1	0	0	0	0	0	0	0	1	14932	912	32	2		2	SND1	7	127569372	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4417243	127569372	31569291	1060	59274											
ZC3HC1	51530	broad.mit.edu	37	chr7	129691187	129691187	+	Missense_Mutation	SNP	C	C	T																															cccctacggcaaacgcttgtCcctcacagggcgccgccatc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:129691187C>T	ENST00000358303.4	-	1	104	c.20G>A	c.(19-21)gGa>gAa	p.G7E	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.G7E|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.G7E|ZC3HC1_ENST00000311873.5_5'UTR	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	7					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AAACGCTTGTCCCTCACAGGG	0.577													24	61					0	0	0	0	T	129691187	C	T	129691187	3	4	328	1	0	0	0	0	1	0	0	0	17672	855	30	2	1528	2	ZC3HC1	7	129691187	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2121815	129691187	29447476	1061	59275	570	2									
ZC3HC1	51530	broad.mit.edu	37	chr7	129691188	129691188	+	Missense_Mutation	SNP	C	C	T																															ccctacggcaaacgcttgtcCctcacagggcgccgccatct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:129691188C>T	ENST00000358303.4	-	1	103	c.19G>A	c.(19-21)Gga>Aga	p.G7R	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.G7R|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.G7R|ZC3HC1_ENST00000311873.5_5'UTR	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	7					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AACGCTTGTCCCTCACAGGGC	0.577													24	61					0	0	0	0	T	129691188	C	T	129691188	3	4	328	1	0	0	0	0	1	0	0	0	17672	632	22	4	1529	4	ZC3HC1	7	129691188	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	129691188	29447475	1062	59276	570	2									
MKLN1	4289	broad.mit.edu	37	chr7	131128280	131128280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatatgatctacacttttgGtggtagaattttgacttgta	11	17	8	5	0	1	3	0	2	1	1	1	3	1	3	0	2	1	2	0	2	5	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:131128280G>A	ENST00000352689.6	+	11	1254	c.1214G>A	c.(1213-1215)gGt>gAt	p.G405D	MKLN1_ENST00000421797.2_Missense_Mutation_p.G313D	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	405					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TACACTTTTGGTGGTAGAATT	0.388													32	72					0	0	0	0	A	131128280	G	A	131128280	3	1	328	1	0	0	0	0	1	0	0	0	9672	1261	44	4	1289	4	MKLN1	7	131128280	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1437092	131128280	28010383	1063	59277											
PLXNA4	91584	broad.mit.edu	37	chr7	131887427	131887427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgatgcgggggtttgtgCacttgcttttggcaccagac	5	13	14	9	1	0	2	0	1	0	1	0	2	0	2	1	3	3	4	1	3	0	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:131887427C>T	ENST00000359827.3	-	12	3526	c.2564G>A	c.(2563-2565)tGc>tAc	p.C855Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.C855Y			Q9HCM2	PLXA4_HUMAN	plexin A4	855	PSI 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGGTTTGTGCACTTGCTTTT	0.657													30	42					0	0	0	0	T	131887427	C	T	131887427	3	4	328	1	0	0	0	0	1	0	0	0	12194	710	25	4	3204	4	PLXNA4	7	131887427	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	759147	131887427	27251236	1064	59278											
EXOC4	60412	broad.mit.edu	37	chr7	133041229	133041229	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaatcatagagcgcttGgagcaggagttgaagcaaat	15	7	13	6	1	1	2	1	1	0	1	1	4	1	4	0	3	3	5	0	3	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:133041229G>C	ENST00000253861.4	+	6	938	c.909G>C	c.(907-909)ttG>ttC	p.L303F	EXOC4_ENST00000539845.1_Missense_Mutation_p.L202F|EXOC4_ENST00000393161.2_Missense_Mutation_p.L303F	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	303					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TAGAGCGCTTGGAGCAGGAGT	0.493													24	36					0	0	0	0	C	133041229	G	C	133041229	3	2	328	1	0	0	0	0	1	0	0	0	5343	1339	47	4	931	4	EXOC4	7	133041229	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1153802	133041229	26097434	1065	59279											
LRGUK	136332	broad.mit.edu	37	chr7	133886309	133886309	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgactgaggaacctgccaaGagtttggctacaactgcagg	11	9	12	9	0	0	3	0	2	0	1	0	4	0	4	2	3	5	3	2	3	4	3	rs146922831	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:133886309G>C	ENST00000285928.2	+	15	1893	c.1824G>C	c.(1822-1824)aaG>aaC	p.K608N		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	608							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AACCTGCCAAGAGTTTGGCTA	0.383													24	41					0	0	0	0	C	133886309	G	C	133886309	3	2	328	1	0	0	0	0	1	0	0	0	9007	933	33	2	1882	2	LRGUK	7	133886309	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	845080	133886309	25252354	1066	59280											
CNOT4	4850	broad.mit.edu	37	chr7	135069477	135069477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcaattggctctgtaaGgtctgcctttaaatatttag	9	16	7	9	0	3	0	1	0	3	0	4	0	3	0	2	2	1	2	2	2	6	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:135069477G>A	ENST00000414802.1	-	10	1251	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000473470.1_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000356162.4_Missense_Mutation_p.L418F|CNOT4_ENST00000361528.4_Intron			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	418					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ggctctgtaaggtctgccttt	0.413													11	15					0	0	0	0	A	135069477	G	A	135069477	3	1	328	1	0	0	0	0	1	0	0	0	3651	1015	35	4		4	CNOT4	7	135069477	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1183168	135069477	24069186	1067	59281											
CHRM2	1129	broad.mit.edu	37	chr7	136699661	136699661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atagcctggctcttacaagtCcttataagacatttgaagtg	12	13	8	8	0	1	2	0	1	1	1	2	2	2	2	2	1	2	1	2	1	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:136699661C>T	ENST00000445907.2	+	3	577	c.49C>T	c.(49-51)Cct>Tct	p.P17S	AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.P17S|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.P17S|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.P17S|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.P17S|CHRM2_ENST00000397608.3_Missense_Mutation_p.P17S|AC009264.1_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	17					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCTTACAAGTCCTTATAAGAC	0.393													34	47					0	0	0	0	T	136699661	C	T	136699661	3	4	328	1	0	0	0	0	1	0	0	0	3406	855	30	2	51	2	CHRM2	7	136699661	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1630184	136699661	22439002	1068	59282											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138417793	138417793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacacaggataaaaatcatCtcagggataaattgcagaat	19	8	8	6	0	2	2	2	0	1	2	3	4	2	4	0	2	1	1	0	2	6	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:138417793C>T	ENST00000310018.2	-	17	2019	c.1737G>A	c.(1735-1737)gaG>gaA	p.E579E	ATP6V0A4_ENST00000393054.1_Silent_p.E579E|ATP6V0A4_ENST00000353492.4_Silent_p.E579E	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	579					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TAAAAATCATCTCAGGGATAA	0.433													25	60					0	0	0	0	T	138417793	C	T	138417793	2	4	328	1	0	0	0	0	0	0	0	1	1174	912	32	2		2	ATP6V0A4	7	138417793	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1718132	138417793	20720870	1069	59283											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138732569	138732569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catacgggcaatttttgtggGaatagatggcatcttttgca	10	14	11	6	1	1	1	0	0	1	1	1	2	1	2	0	3	2	3	0	3	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:138732569G>A	ENST00000242351.5	-	13	2796	c.2480C>T	c.(2479-2481)tCc>tTc	p.S827F	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S949F	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	827	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATTTTTGTGGGAATAGATGGC	0.333													42	47					0	0	0	0	A	138732569	G	A	138732569	3	1	328	1	0	0	0	0	1	0	0	0	17670	1174	41	2	232	2	ZC3HAV1	7	138732569	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	314776	138732569	20406094	1070	59284											
UBN2	254048	broad.mit.edu	37	chr7	138968645	138968645	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttctcaagggtcccacccCctggtttctaggacagtacc	7	10	10	14	0	2	0	1	0	2	0	4	1	3	1	4	4	1	3	4	4	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:138968645C>T	ENST00000288561.8	+	15	2994	c.2745C>T	c.(2743-2745)ccC>ccT	p.P915P	UBN2_ENST00000473989.2_Silent_p.P998P	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	998	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GGTCCCACCCCCTGGTTTCTA	0.493													30	67					0	0	0	0	T	138968645	C	T	138968645	2	4	328	1	0	0	0	0	0	0	0	1	16989	610	22	4		4	UBN2	7	138968645	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	236076	138968645	20170018	1071	59285											
DENND2A	27147	broad.mit.edu	37	chr7	140218518	140218518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagagttatttcttgtGgagaaatttcattttattgc	9	18	10	4	0	2	2	1	1	1	2	2	4	2	2	0	2	1	2	0	2	3	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:140218518G>A	ENST00000275884.6	-	19	3436	c.3019C>T	c.(3019-3021)Cac>Tac	p.H1007Y	DENND2A_ENST00000537639.1_Missense_Mutation_p.H1007Y|DENND2A_ENST00000496613.1_Missense_Mutation_p.H1007Y			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	1007										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TATTTCTTGTGGAGAAATTTC	0.428													12	38					0	0	0	0	A	140218518	G	A	140218518	3	1	328	1	0	0	0	0	1	0	0	0	4466	1348	47	4	14	4	DENND2A	7	140218518	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1249873	140218518	18920145	1072	59286											
ADCK2	90956	broad.mit.edu	37	chr7	140394569	140394569	+	Missense_Mutation	SNP	C	C	T																															catcctggaggcagcgaggcCcttcctcctcacgggcccag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:140394569C>T	ENST00000072869.4	+	8	2025	c.1847C>T	c.(1846-1848)cCc>cTc	p.P616L	ADCK2_ENST00000476491.1_Intron|NDUFB2_ENST00000482954.1_Intron	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	616	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GCAGCGAGGCCCTTCCTCCTC	0.622													39	41					0	0	0	0	T	140394569	C	T	140394569	3	4	328	1	0	0	0	0	1	0	0	0	289	623	22	4	1877	4	ADCK2	7	140394569	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	176051	140394569	18744094	1073	59287	571	2									
ADCK2	90956	broad.mit.edu	37	chr7	140394570	140394570	+	Silent	SNP	C	C	T																															atcctggaggcagcgaggccCttcctcctcacgggcccagt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:140394570C>T	ENST00000072869.4	+	8	2026	c.1848C>T	c.(1846-1848)ccC>ccT	p.P616P	ADCK2_ENST00000476491.1_Intron|NDUFB2_ENST00000482954.1_Intron	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	616	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CAGCGAGGCCCTTCCTCCTCA	0.622													39	41					0	0	0	0	T	140394570	C	T	140394570	2	4	328	1	0	0	0	0	0	0	0	1	289	668	24	4		4	ADCK2	7	140394570	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	140394570	18744093	1074	59288	571	2									
NDUFB2	4708	broad.mit.edu	37	chr7	140402710	140402710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccggtatagacagttccCccagctgaccagatcccagg	9	6	10	16	1	0	3	0	1	0	2	2	3	2	3	6	2	1	3	6	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:140402710C>T	ENST00000476279.1	+	2	217	c.143C>T	c.(142-144)cCc>cTc	p.P48L	NDUFB2_ENST00000460088.1_5'UTR|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000476470.1_5'UTR|NDUFB2_ENST00000465506.1_Missense_Mutation_p.P48L|NDUFB2_ENST00000247866.4_Missense_Mutation_p.P48L|NDUFB2_ENST00000471136.1_Missense_Mutation_p.P36L|NDUFB2_ENST00000475276.1_Missense_Mutation_p.P21L|NDUFB2_ENST00000482954.1_5'UTR|NDUFB2_ENST00000204307.5_Missense_Mutation_p.P38L|NDUFB2_ENST00000472695.1_5'UTR|NDUFB2_ENST00000464564.2_3'UTR			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	48					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	AGACAGTTCCCCCAGCTGACC	0.532													84	92					0	0	0	0	T	140402710	C	T	140402710	3	4	328	1	0	0	0	0	1	0	0	0	10351	623	22	4	149	4	NDUFB2	7	140402710	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	8140	140402710	18735953	1075	59289											
OR9A4	130075	broad.mit.edu	37	chr7	141618868	141618868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttcttcctcggccacCtctctgccctggagatcctg	4	14	8	15	1	2	1	0	0	2	1	6	2	4	1	5	2	1	1	5	2	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:141618868C>T	ENST00000548136.1	+	1	252	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCTCGGCCACCTCTCTGCCCT	0.483													50	123					0	0	0	0	T	141618868	C	T	141618868	3	4	328	1	0	0	0	0	1	0	0	0	11320	681	24	4	195	4	OR9A4	7	141618868	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1216158	141618868	17519795	1076	59290											
CLEC5A	23601	broad.mit.edu	37	chr7	141635614	141635614	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccattccagtgttctcacCagtttctctggcgtgttgac	6	15	8	12	1	2	1	1	1	2	0	5	1	3	1	3	1	1	3	3	1	1	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:141635614C>T	ENST00000546910.1	-	5	541	c.345_splice	c.e5+1	p.L115_splice	CLEC5A_ENST00000551012.2_Splice_Site_p.L92_splice|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Splice_Site_p.L92_splice	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	115	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GTGTTCTCACCAGTTTCTCTG	0.478													53	55					0	0	0	0	T	141635614	C	T	141635614	5	4	328	1	0	0	0	0	0	0	1	0	3549	608	21	4	233	4	CLEC5A	7	141635614	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	16746	141635614	17503049	1077	59291											
MGAM	8972	broad.mit.edu	37	chr7	141727464	141727464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcttggatttcacctcagtCgttacgaatatggaacctta	10	13	8	10	3	2	0	2	0	0	0	3	3	2	2	2	2	2	2	2	2	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:141727464C>T	ENST00000475668.2	+	10	1204	c.1150C>T	c.(1150-1152)Cgt>Tgt	p.R384C	MGAM_ENST00000549489.2_Missense_Mutation_p.R384C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	384	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCACCTCAGTCGTTACGAATA	0.453													19	38					0	0	0	0	T	141727464	C	T	141727464	3	4	328	1	0	0	0	0	1	0	0	0	9610	884	31	1	1184	1	MGAM	7	141727464	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	91850	141727464	17411199	1078	59292											
MGAM	8972	broad.mit.edu	37	chr7	141803120	141803120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attacatcactggtacaaatCctttgaaactgggctacatt	13	13	6	9	0	1	1	1	1	0	0	2	1	2	1	1	2	4	2	1	2	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:141803120C>T	ENST00000475668.2	+	70	8119	c.8065C>T	c.(8065-8067)Cct>Tct	p.P2689S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1793S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1793					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGTACAAATCCTTTGAAACT	0.393													6	17					0	0	0	0	T	141803120	C	T	141803120	3	4	328	1	0	0	0	0	1	0	0	0	9610	855	30	2	5559	2	MGAM	7	141803120	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	75656	141803120	17335543	1079	59293											
TRPV5	56302	broad.mit.edu	37	chr7	142625949	142625949	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggaggatgaggatgtgtAatactgtgtttcctggggag	8	12	17	4	0	0	1	0	1	0	0	1	5	1	5	1	5	1	3	1	5	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:142625949A>G	ENST00000265310.1	-	6	947	c.599T>C	c.(598-600)tTa>tCa	p.L200S	TRPV5_ENST00000442623.1_Missense_Mutation_p.L200S	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	200					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GAGGATGTGTAATACTGTGTT	0.567													57	52					0	0	0	0	G	142625949	A	G	142625949	3	3	328	1	0	0	0	0	1	0	0	0	16694	372	13	5	1630	5	TRPV5	7	142625949	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	822829	142625949	16512714	1080	59294											
KEL	3792	broad.mit.edu	37	chr7	142651377	142651377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtgatggagattgacaagGaagagtgttcttgcaccttg	12	11	13	5	0	1	4	0	2	1	2	1	6	1	5	1	2	1	2	1	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:142651377G>A	ENST00000355265.2	-	8	1292	c.818C>T	c.(817-819)tCc>tTc	p.S273F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	273					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GATTGACAAGGAAGAGTGTTC	0.542													38	34					0	0	0	0	A	142651377	G	A	142651377	3	1	328	1	0	0	0	0	1	0	0	0	8194	1174	41	2	1428	2	KEL	7	142651377	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	25428	142651377	16487286	1081	59295											
FAM131B	9715	broad.mit.edu	37	chr7	143054043	143054043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcttcccaggcatctgacGaccccagacagtacataccc	10	7	8	16	1	1	2	0	1	1	1	2	3	2	2	4	2	2	3	4	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:143054043G>A	ENST00000409408.1	-	6	2307	c.599C>T	c.(598-600)tCg>tTg	p.S200L	FAM131B_ENST00000409222.3_Missense_Mutation_p.S200L|FAM131B_ENST00000443739.2_Missense_Mutation_p.S228L|FAM131B_ENST00000409346.1_Missense_Mutation_p.S200L|FAM131B_ENST00000409578.1_Missense_Mutation_p.S216L			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	200										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGCATCTGACGACCCCAGACA	0.552													24	48					0	0	0	0	A	143054043	G	A	143054043	3	1	328	1	0	0	0	0	1	0	0	0	5481	1059	37	1	403	1	FAM131B	7	143054043	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	402666	143054043	16084620	1082	59296											
CNTNAP2	26047	broad.mit.edu	37	chr7	147815307	147815307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgacatttctttctacttCaaaacattaaccccctgggg	10	13	6	12	0	3	1	1	1	2	0	3	1	3	1	2	2	3	1	2	2	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:147815307C>T	ENST00000361727.3	+	16	2997	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	827	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTTCTACTTCAAAACATTAA	0.438										HNSCC(39;0.1)			34	63					0	0	0	0	T	147815307	C	T	147815307	2	4	328	1	0	0	0	0	0	0	0	1	3677	825	29	2		2	CNTNAP2	7	147815307	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4761264	147815307	11323356	1083	59297											
KCNH2	3757	broad.mit.edu	37	chr7	150642493	150642493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgtgtctgtgcaggggctggGaggtgagggcccccagctgg	4	7	20	10	1	1	1	0	1	1	0	1	2	1	2	2	6	2	3	2	6	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:150642493G>A	ENST00000392968.2	-	13	4272	c.3152C>T	c.(3151-3153)tCc>tTc	p.S1051F	KCNH2_ENST00000330883.4_Missense_Mutation_p.S807F|KCNH2_ENST00000262186.5_Missense_Mutation_p.S1147F			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1147					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CAGGGGCTGGGAGGTGAGGGC	0.706													4	3					0	0	0	0	A	150642493	G	A	150642493	3	1	328	1	0	0	0	0	1	0	0	0	8085	1174	41	2	43	2	KCNH2	7	150642493	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2827186	150642493	8496170	1084	59298											
NOS3	4846	broad.mit.edu	37	chr7	150704269	150704269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgtggacacacggctggagGaactgggcggggagcggctg	7	4	20	10	4	0	0	0	0	0	0	0	4	0	4	1	8	2	2	1	8	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:150704269G>A	ENST00000297494.3	+	17	2374	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	NOS3_ENST00000461406.1_Missense_Mutation_p.E467K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	673	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	ACGGCTGGAGGAACTGGGCGG	0.701													37	82					0	0	0	0	A	150704269	G	A	150704269	3	1	328	1	0	0	0	0	1	0	0	0	10614	1175	41	2	2361	2	NOS3	7	150704269	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	61776	150704269	8434394	1085	59299											
CDK5	1020	broad.mit.edu	37	chr7	150751520	150751520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggcagcttggtcatagagGgccactgctcctcggtgggc	5	9	15	12	1	1	1	1	0	0	1	3	1	2	1	2	5	2	3	2	5	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:150751520G>A	ENST00000485972.1	-	10	1364	c.683C>T	c.(682-684)cCc>cTc	p.P228L	CDK5_ENST00000297518.4_Missense_Mutation_p.P196L	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	228	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		GGTCATAGAGGGCCACTGCTC	0.597													19	34					0	0	0	0	A	150751520	G	A	150751520	3	1	328	1	0	0	0	0	1	0	0	0	3171	1232	43	4	207	4	CDK5	7	150751520	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	47251	150751520	8387143	1086	59300											
EN2	2020	broad.mit.edu	37	chr7	155251019	155251019	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgccgcgggagggccgaagGctgatttggaagggcgtccc	6	5	19	11	5	0	1	0	1	0	0	1	4	1	3	3	5	0	1	3	5	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:155251019G>A	ENST00000297375.4	+	0	196					NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGCCGAAGGCTGATTTGGA	0.701													6	8					0	0	0	0	A	155251019	G	A	155251019	1	1	328	1	0	0	0	0	0	0	0	0	5148	1218	42	4		4	EN2	7	155251019	Translation_Start_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4499499	155251019	3887644	1087	59301											
WDR60	55112	broad.mit.edu	37	chr7	158718982	158718982	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtgctttcacccttttctActcaagaaggtacgtgattc	8	16	7	10	1	3	2	2	1	1	1	4	2	3	2	1	1	3	2	1	1	4	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:158718982A>T	ENST00000407559.3	+	18	2520	c.2362A>T	c.(2362-2364)Act>Tct	p.T788S		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	788										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACCCTTTTCTACTCAAGAAGG	0.388													8	17					0	0	0	0	T	158718982	A	T	158718982	3	4	328	1	0	0	0	0	1	0	0	0	17407	391	14	5	2432	5	WDR60	7	158718982	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	3467963	158718982	419681	1088	59302											
VIPR2	7434	broad.mit.edu	37	chr7	158896490	158896490	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtagccacaggcatcgacGaaatctgggaacgtctctga	11	8	11	11	3	2	1	0	1	2	0	4	4	2	2	1	2	2	2	1	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:158896490G>A	ENST00000262178.2	-	4	500	c.315C>T	c.(313-315)ttC>ttT	p.F105F	VIPR2_ENST00000402066.1_Silent_p.F246F	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	105					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AGGCATCGACGAAATCTGGGA	0.498													30	39					0	0	0	0	A	158896490	G	A	158896490	2	1	328	1	0	0	0	0	0	0	0	1	17266	1049	37	1		1	VIPR2	7	158896490	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	177508	158896490	242173	1089	59303											
DLGAP2	9228	broad.mit.edu	37	chr8	1497038	1497038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgctgctcgccgcgcagctCggtgcactcggagtgcgtga	4	7	15	15	7	0	1	0	1	0	0	3	2	0	2	2	2	4	5	2	2	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:1497038C>T	ENST00000421627.2	+	2	313	c.179C>T	c.(178-180)tCg>tTg	p.S60L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	139					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCGCGCAGCTCGGTGCACTCG	0.731													9	15					0	0	0	0	T	1497038	C	T	1497038	3	4	328	1	0	0	0	0	1	0	0	0	4597	893	31	1	181	1	DLGAP2	8	1497038	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08		1497038	144866984	1090	59304											
DLGAP2	9228	broad.mit.edu	37	chr8	1626530	1626530	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccgagcccagcacccccacCcagtacagcgcggtgagaac	10	3	10	18	3	0	1	0	1	0	1	1	3	1	1	5	1	5	2	5	1	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:1626530C>T	ENST00000421627.2	+	9	2333	c.2199C>T	c.(2197-2199)acC>acT	p.T733T	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	812					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCACCCCCACCCAGTACAGCG	0.627													17	32					0	0	0	0	T	1626530	C	T	1626530	2	4	328	1	0	0	0	0	0	0	0	1	4597	610	22	4		4	DLGAP2	8	1626530	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	129492	1626530	144737492	1091	59305											
ARHGEF10	9639	broad.mit.edu	37	chr8	1808226	1808226	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggaggagaatgtgggtctCcatgtgccctgcgggtactt	7	10	16	8	1	1	1	0	0	1	1	2	4	1	2	2	4	3	1	2	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:1808226C>T	ENST00000518288.1	+	5	592	c.429C>T	c.(427-429)ctC>ctT	p.L143L	ARHGEF10_ENST00000262112.6_Silent_p.L143L|ARHGEF10_ENST00000349830.3_Silent_p.L119L|ARHGEF10_ENST00000520359.1_Silent_p.L119L|ARHGEF10_ENST00000398564.1_Silent_p.L143L|ARHGEF10_ENST00000398560.1_Silent_p.L143L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	143					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATGTGGGTCTCCATGTGCCCT	0.627													28	36					0	0	0	0	T	1808226	C	T	1808226	2	4	328	1	0	0	0	0	0	0	0	1	896	842	30	2		2	ARHGEF10	8	1808226	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	181696	1808226	144555796	1092	59306											
CSMD1	64478	broad.mit.edu	37	chr8	2808744	2808744	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcgggttgtcttttccctaAatattcataataccccttcc	8	15	6	12	1	2	0	1	0	1	0	4	0	4	0	4	2	1	1	4	2	5	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:2808744A>T	ENST00000602557.1	-	67	10651	c.10096T>A	c.(10096-10098)Tta>Ata	p.L3366I	CSMD1_ENST00000602723.1_Missense_Mutation_p.L3189I|CSMD1_ENST00000542608.1_Missense_Mutation_p.L3188I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L3189I|CSMD1_ENST00000537824.1_Missense_Mutation_p.L3365I|CSMD1_ENST00000520002.1_Missense_Mutation_p.L3366I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3366						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTTTCCCTAAATATTCATAA	0.468													3	11					0	0	0	0	T	2808744	A	T	2808744	3	4	328	1	0	0	0	0	1	0	0	0	3976	11	1	5	621	5	CSMD1	8	2808744	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	1000518	2808744	143555278	1093	59307											
CSMD1	64478	broad.mit.edu	37	chr8	2967749	2967749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtaaactccgtgccctGgaggcaccgtgatgagccaa	10	8	12	11	2	0	3	0	3	0	0	1	4	1	4	4	2	3	2	4	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:2967749G>A	ENST00000602557.1	-	44	7097	c.6542C>T	c.(6541-6543)cCa>cTa	p.P2181L	CSMD1_ENST00000602723.1_Missense_Mutation_p.P2181L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2180L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2181L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2180L|CSMD1_ENST00000520002.1_Missense_Mutation_p.P2181L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2181	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCGTGCCCTGGAGGCACCGT	0.483													6	11					0	0	0	0	A	2967749	G	A	2967749	3	1	328	1	0	0	0	0	1	0	0	0	3976	1348	47	4	4267	4	CSMD1	8	2967749	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	159005	2967749	143396273	1094	59308											
CSMD1	64478	broad.mit.edu	37	chr8	2975987	2975987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaagtgaggacaggatGgcctattagaatgtacccag	13	8	12	8	0	0	3	0	2	0	1	0	5	0	5	2	3	1	1	2	3	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:2975987G>T	ENST00000602557.1	-	43	6922	c.6367C>A	c.(6367-6369)Cat>Aat	p.H2123N	CSMD1_ENST00000602723.1_Missense_Mutation_p.H2123N|CSMD1_ENST00000542608.1_Missense_Mutation_p.H2122N|CSMD1_ENST00000400186.3_Missense_Mutation_p.H2123N|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2122N|CSMD1_ENST00000520002.1_Missense_Mutation_p.H2123N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2123	Sushi 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGACAGGATGGCCTATTAGA	0.453													23	38					7.92952e-12	8.02318e-12	1	0	T	2975987	G	T	2975987	3	4	328	1	0	0	0	0	1	0	0	0	3976	1348	47	4	4446	4	CSMD1	8	2975987	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	8238	2975987	143388035	1095	59309											
CSMD1	64478	broad.mit.edu	37	chr8	3216688	3216688	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctacccacacaccttggcAgaggtgcactccacacacgg	11	5	8	17	1	0	1	0	0	0	1	1	1	1	1	4	3	2	2	4	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:3216688A>C	ENST00000602557.1	-	22	3848	c.3293T>G	c.(3292-3294)cTg>cGg	p.L1098R	CSMD1_ENST00000602723.1_Missense_Mutation_p.L1098R|CSMD1_ENST00000542608.1_Missense_Mutation_p.L1097R|CSMD1_ENST00000400186.3_Missense_Mutation_p.L1098R|CSMD1_ENST00000537824.1_Missense_Mutation_p.L1097R|CSMD1_ENST00000539096.1_Missense_Mutation_p.L1097R|CSMD1_ENST00000520002.1_Missense_Mutation_p.L1098R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1098	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACACCTTGGCAGAGGTGCACT	0.592													21	52					0	0	0	0	C	3216688	A	C	3216688	3	2	328	1	0	0	0	0	1	0	0	0	3976	188	7	5	7604	5	CSMD1	8	3216688	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	240701	3216688	143147334	1096	59310											
MCPH1	79648	broad.mit.edu	37	chr8	6303035	6303035	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggagacgtctacagaaGagaaggaaaacttacccgga	17	5	11	8	2	1	3	0	0	1	3	1	7	1	5	1	3	3	0	1	3	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:6303035G>T	ENST00000344683.5	+	8	1868	c.1792G>T	c.(1792-1794)Gag>Tag	p.E598*	MCPH1_ENST00000522905.1_Nonsense_Mutation_p.E550*|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.E598*	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	598						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GTCTACAGAAGAGAAGGAAAA	0.408													28	44					3.65163e-15	3.71049e-15	1	0	T	6303035	G	T	6303035	4	4	328	1	0	0	0	0	0	1	0	0	9467	943	33	2	1822	2	MCPH1	8	6303035	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3086347	6303035	140060987	1097	59311											
MFHAS1	9258	broad.mit.edu	37	chr8	8750010	8750010	+	Missense_Mutation	SNP	C	C	T																															gagctggttgtgatccacgtCcagggtgcgcaggcgggaga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:8750010C>T	ENST00000276282.6	-	1	1145	c.559G>A	c.(559-561)Gac>Aac	p.D187N		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	187										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGATCCACGTCCAGGGTGCGC	0.687													8	9					0	0	0	0	T	8750010	C	T	8750010	3	4	328	1	0	0	0	0	1	0	0	0	9590	855	30	2	2611	2	MFHAS1	8	8750010	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2446975	8750010	137614012	1098	59312	572	2									
MFHAS1	9258	broad.mit.edu	37	chr8	8750011	8750011	+	Silent	SNP	C	C	T																															agctggttgtgatccacgtcCagggtgcgcaggcgggagag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:8750011C>T	ENST00000276282.6	-	1	1144	c.558G>A	c.(556-558)ctG>ctA	p.L186L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	186										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GATCCACGTCCAGGGTGCGCA	0.682													8	8					0	0	0	0	T	8750011	C	T	8750011	2	4	328	1	0	0	0	0	0	0	0	1	9590	581	21	4		4	MFHAS1	8	8750011	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	8750011	137614011	1099	59313	572	2									
RP1L1	94137	broad.mit.edu	37	chr8	10469725	10469725	+	Missense_Mutation	SNP	G	G	A																															gggatgaagtgcaggtggaaGgggtggaagaggctccttcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:10469725G>A	ENST00000382483.3	-	4	2106	c.1883C>T	c.(1882-1884)cCt>cTt	p.P628L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	628					intracellular signal transduction					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)		GCAGGTGGAAGGGGTGGAAGA	0.667													32	39					0	0	0	0	A	10469725	G	A	10469725	3	1	328	1	0	0	0	0	1	0	0	0	13618	1000	35	4	5323	4	RP1L1	8	10469725	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1719714	10469725	135894297	1100	59314	573	2									
RP1L1	94137	broad.mit.edu	37	chr8	10469726	10469726	+	Missense_Mutation	SNP	G	G	A																															ggatgaagtgcaggtggaagGggtggaagaggctccttccg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:10469726G>A	ENST00000382483.3	-	4	2105	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	628					intracellular signal transduction					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)		CAGGTGGAAGGGGTGGAAGAG	0.662													32	40					0	0	0	0	A	10469726	G	A	10469726	3	1	328	1	0	0	0	0	1	0	0	0	13618	1232	43	4	5324	4	RP1L1	8	10469726	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	10469726	135894296	1101	59315	573	2									
C8orf74	203076	broad.mit.edu	37	chr8	10557944	10557944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagccctgaagccccaaaGagcgagcaaaggaaagaaag	18	1	13	9	1	0	3	0	1	0	2	0	6	0	5	3	2	4	1	3	2	6	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:10557944G>C	ENST00000304519.5	+	4	877	c.848G>C	c.(847-849)aGa>aCa	p.R283T	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	283										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		AAGCCCCAAAGAGCGAGCAAA	0.597													3	14					0	0	0	0	C	10557944	G	C	10557944	3	2	328	1	0	0	0	0	1	0	0	0	2461	942	33	2	862	2	C8orf74	8	10557944	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	88218	10557944	135806078	1102	59316											
FDFT1	2222	broad.mit.edu	37	chr8	11687925	11687925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttaacttctgtgctattcCacaggtagggaagggggctc	8	12	13	8	0	1	0	0	0	1	0	3	1	2	1	1	4	2	4	1	4	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:11687925C>T	ENST00000220584.4	+	6	1097	c.875C>T	c.(874-876)cCa>cTa	p.P292L	FDFT1_ENST00000443614.2_Missense_Mutation_p.P249L|FDFT1_ENST00000530664.1_Missense_Mutation_p.P228L|FDFT1_ENST00000525900.1_Missense_Mutation_p.P285L|FDFT1_ENST00000528812.1_Missense_Mutation_p.P228L|FDFT1_ENST00000528643.1_Missense_Mutation_p.P207L|FDFT1_ENST00000525777.1_Missense_Mutation_p.P207L|FDFT1_ENST00000538689.1_Missense_Mutation_p.P181L|FDFT1_ENST00000446331.2_3'UTR	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	292					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TGTGCTATTCCACAGGTAGGG	0.478													19	54					0	0	0	0	T	11687925	C	T	11687925	3	4	328	1	0	0	0	0	1	0	0	0	5847	594	21	4	897	4	FDFT1	8	11687925	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1129981	11687925	134676097	1103	59317											
MSR1	4481	broad.mit.edu	37	chr8	16012590	16012590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacctattggacctggaaatCctcgtggaccactttctcca	9	12	7	13	1	1	0	0	0	1	0	4	3	2	3	5	3	1	0	5	3	3	4	rs41440349	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:16012590C>T	ENST00000350896.3	-	6	1078	c.881G>A	c.(880-882)gGa>gAa	p.G294E	MSR1_ENST00000536385.1_Missense_Mutation_p.G68E|MSR1_ENST00000445506.2_Missense_Mutation_p.G312E|MSR1_ENST00000355282.2_Missense_Mutation_p.G294E|MSR1_ENST00000262101.5_Missense_Mutation_p.G294E|MSR1_ENST00000381998.4_Missense_Mutation_p.G294E	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	294	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ACCTGGAAATCCTCGTGGACC	0.408													16	31					0	0	0	0	T	16012590	C	T	16012590	3	4	328	1	0	0	0	0	1	0	0	0	9956	855	30	2	542	2	MSR1	8	16012590	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4324665	16012590	130351432	1104	59318											
ZDHHC2	51201	broad.mit.edu	37	chr8	17065601	17065601	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaataaatctacattaGgtgagtatccaattattgta	17	13	6	5	0	1	1	0	1	1	0	2	1	2	1	1	1	1	3	1	1	10	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:17065601G>A	ENST00000262096.8	+	8	1425	c.730_splice	c.e8+1	p.E244_splice		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	244						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		ATCTACATTAGGTGAGTATCC	0.348													4	2					0	0	0	0	A	17065601	G	A	17065601	5	1	328	1	0	0	0	0	0	0	1	0	17705	1014	35	4	760	4	ZDHHC2	8	17065601	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1053011	17065601	129298421	1105	59319											
SLC18A1	6570	broad.mit.edu	37	chr8	20004780	20004780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctccttacaagcttctcttCctttgccggggggctccgca	4	12	10	15	2	1	0	0	0	1	0	5	0	4	0	4	3	3	4	4	3	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:20004780C>T	ENST00000440926.1	-	16	1923	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	SLC18A1_ENST00000276373.5_Missense_Mutation_p.E485K|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000519026.1_Missense_Mutation_p.E453K|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000265808.7_Missense_Mutation_p.E453K	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	485					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AGCTTCTCTTCCTTTGCCGGG	0.488													15	25					0	0	0	0	T	20004780	C	T	20004780	3	4	328	1	0	0	0	0	1	0	0	0	14513	864	30	2	132	2	SLC18A1	8	20004780	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2939179	20004780	126359242	1106	59320											
BMP1	649	broad.mit.edu	37	chr8	22054265	22054265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggcccaaggagtacccccCcaacaagaactgcatctggc	11	5	9	16	0	1	1	0	0	1	1	1	2	1	2	4	3	4	2	4	3	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:22054265C>T	ENST00000306385.5	+	14	2508	c.1838C>T	c.(1837-1839)cCc>cTc	p.P613L	BMP1_ENST00000306349.8_Missense_Mutation_p.P613L|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.P613L	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	613	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GAGTACCCCCCCAACAAGAAC	0.602													22	33					0	0	0	0	T	22054265	C	T	22054265	3	4	328	1	0	0	0	0	1	0	0	0	1461	623	22	4	1892	4	BMP1	8	22054265	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2049485	22054265	124309757	1107	59321											
POLR3D	661	broad.mit.edu	37	chr8	22106602	22106602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggccaagatgaaggCtcctcccaaagcagccagga	14	3	13	11	0	0	3	0	1	0	2	2	5	2	5	4	4	2	2	4	4	4	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:22106602C>T	ENST00000397802.4	+	6	916	c.701C>T	c.(700-702)gCt>gTt	p.A234V	POLR3D_ENST00000306433.4_Missense_Mutation_p.A234V			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	234					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AAGATGAAGGCTCCTCCCAAA	0.567													33	23					0	0	0	0	T	22106602	C	T	22106602	3	4	328	1	0	0	0	0	1	0	0	0	12303	797	28	4	723	4	POLR3D	8	22106602	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	52337	22106602	124257420	1108	59322											
PIWIL2	55124	broad.mit.edu	37	chr8	22161620	22161620	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattgttatcacccgatataAcaatcgtacctatcgtattg	12	15	5	9	3	1	0	1	0	0	0	3	1	1	0	2	0	2	3	2	0	8	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:22161620A>C	ENST00000356766.6	+	11	1416	c.1268A>C	c.(1267-1269)aAc>aCc	p.N423T	PIWIL2_ENST00000454009.2_Missense_Mutation_p.N423T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.N423T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	423	PAZ.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ACCCGATATAACAATCGTACC	0.393													49	73					0	0	0	0	C	22161620	A	C	22161620	3	2	328	1	0	0	0	0	1	0	0	0	12030	43	2	5	1306	5	PIWIL2	8	22161620	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	55018	22161620	124202402	1109	59323											
PIWIL2	55124	broad.mit.edu	37	chr8	22173806	22173806	+	Missense_Mutation	SNP	G	G	A																															tttaccatgaccccagtagaGgcatgcgctccgtggttggc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:22173806G>A	ENST00000356766.6	+	19	2405	c.2257G>A	c.(2257-2259)Ggc>Agc	p.G753S	PIWIL2_ENST00000454009.2_Missense_Mutation_p.G753S|PIWIL2_ENST00000521356.1_Missense_Mutation_p.G753S	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	753	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCCCAGTAGAGGCATGCGCTC	0.418													10	26					0	0	0	0	A	22173806	G	A	22173806	3	1	328	1	0	0	0	0	1	0	0	0	12030	1000	35	4	2327	4	PIWIL2	8	22173806	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	12186	22173806	124190216	1110	59324	574	2									
PIWIL2	55124	broad.mit.edu	37	chr8	22173807	22173807	+	Missense_Mutation	SNP	G	G	A																															ttaccatgaccccagtagagGcatgcgctccgtggttggct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:22173807G>A	ENST00000356766.6	+	19	2406	c.2258G>A	c.(2257-2259)gGc>gAc	p.G753D	PIWIL2_ENST00000454009.2_Missense_Mutation_p.G753D|PIWIL2_ENST00000521356.1_Missense_Mutation_p.G753D	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	753	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCCAGTAGAGGCATGCGCTCC	0.418													10	26					0	0	0	0	A	22173807	G	A	22173807	3	1	328	1	0	0	0	0	1	0	0	0	12030	1203	42	4	2328	4	PIWIL2	8	22173807	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	22173807	124190215	1111	59325	574	2									
LOXL2	4017	broad.mit.edu	37	chr8	23217678	23217678	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacaccacaccgacatcCtccgtgtgcttgcagtcagt	8	9	8	16	2	1	0	1	0	0	0	3	1	3	0	4	0	3	3	4	0	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:23217678C>T	ENST00000389131.3	-	3	825	c.456G>A	c.(454-456)gaG>gaA	p.E152E	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	152	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CACCGACATCCTCCGTGTGCT	0.522													26	34					0	0	0	0	T	23217678	C	T	23217678	2	4	328	1	0	0	0	0	0	0	0	1	8964	680	24	4		4	LOXL2	8	23217678	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1043871	23217678	123146344	1112	59326											
ADAM28	10863	broad.mit.edu	37	chr8	24181486	24181486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggagtgttctctcaagaaGaaagcgtcatgatattgctc	11	11	12	7	1	3	3	2	1	1	2	5	4	3	4	0	2	2	2	0	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:24181486G>A	ENST00000265769.4	+	9	970	c.860G>A	c.(859-861)aGa>aAa	p.R287K	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.R287K|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Missense_Mutation_p.R54K|ADAM28_ENST00000397649.3_Missense_Mutation_p.R34K	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	287	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTCTCAAGAAGAAAGCGTCAT	0.403													25	37					0	0	0	0	A	24181486	G	A	24181486	3	1	328	1	0	0	0	0	1	0	0	0	246	942	33	2	894	2	ADAM28	8	24181486	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	963808	24181486	122182536	1113	59327											
PTK2B	2185	broad.mit.edu	37	chr8	27278228	27278228	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggagagcctgaaggaGgacaggaccacgctgctcta	11	7	13	10	1	2	2	1	1	1	1	2	6	2	5	2	4	2	2	2	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:27278228G>A	ENST00000397501.1	+	9	1246	c.438G>A	c.(436-438)gaG>gaA	p.E146E	PTK2B_ENST00000338238.4_Silent_p.E146E|PTK2B_ENST00000346049.5_Silent_p.E146E|PTK2B_ENST00000517339.1_Silent_p.E146E|PTK2B_ENST00000544172.1_Silent_p.E146E|PTK2B_ENST00000420218.2_Silent_p.E146E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	146	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GCCTGAAGGAGGACAGGACCA	0.483													28	58					0	0	0	0	A	27278228	G	A	27278228	2	1	328	1	0	0	0	0	0	0	0	1	12843	991	35	4		4	PTK2B	8	27278228	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3096742	27278228	119085794	1114	59328											
PTK2B	2185	broad.mit.edu	37	chr8	27312077	27312077	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaccctgcggaagctcatCgggagcgtggatgatctcct	7	9	13	12	3	2	2	1	2	1	0	4	5	2	5	2	3	3	1	2	3	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:27312077C>T	ENST00000397501.1	+	35	3571	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	PTK2B_ENST00000338238.4_Silent_p.I879I|PTK2B_ENST00000346049.5_Silent_p.I921I|PTK2B_ENST00000517339.1_Silent_p.I879I|PTK2B_ENST00000544172.1_Silent_p.I921I|PTK2B_ENST00000420218.2_Silent_p.I879I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	921	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.I921I(2)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GGAAGCTCATCGGGAGCGTGG	0.597													16	18					0	0	0	0	T	27312077	C	T	27312077	2	4	328	1	0	0	0	0	0	0	0	1	12843	874	31	1		1	PTK2B	8	27312077	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	33849	27312077	119051945	1115	59329											
PNOC	5368	broad.mit.edu	37	chr8	28196631	28196631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcaccaaggtcatggccagGagctcttggcagctcagccc	8	7	12	14	0	3	0	2	0	1	0	3	1	3	1	3	4	4	4	3	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:28196631G>A	ENST00000301908.3	+	3	409	c.201G>A	c.(199-201)agG>agA	p.R67R	RP11-380I10.4_ENST00000521731.1_RNA|PNOC_ENST00000522209.1_Silent_p.R3R	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	67					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		TCATGGCCAGGAGCTCTTGGC	0.627													27	49					0	0	0	0	A	28196631	G	A	28196631	2	1	328	1	0	0	0	0	0	0	0	1	12234	1165	41	2		2	PNOC	8	28196631	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	884554	28196631	118167391	1116	59330											
ZNF395	55893	broad.mit.edu	37	chr8	28218604	28218604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acacccgggctcccaggaggGaccgctttccaaggcgtcgg	7	5	14	15	4	0	0	0	0	0	0	3	2	2	2	4	5	0	2	4	5	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:28218604G>A	ENST00000344423.5	-	2	169	c.38C>T	c.(37-39)tCc>tTc	p.S13F	ZNF395_ENST00000523095.1_Missense_Mutation_p.S13F|ZNF395_ENST00000523202.1_Missense_Mutation_p.S13F	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	13					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TCCCAGGAGGGACCGCTTTCC	0.692													22	41					0	0	0	0	A	28218604	G	A	28218604	3	1	328	1	0	0	0	0	1	0	0	0	17976	1174	41	2	1539	2	ZNF395	8	28218604	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	21973	28218604	118145418	1117	59331											
HMBOX1	79618	broad.mit.edu	37	chr8	28876342	28876342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgaatggagacaaacgcctCccccagtctctgccacatct	10	8	7	16	1	2	2	0	1	2	1	4	3	3	2	4	1	2	0	4	1	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:28876342C>T	ENST00000397358.3	+	7	1467	c.763C>T	c.(763-765)Ccc>Tcc	p.P255S	HMBOX1_ENST00000519047.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000558662.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000444075.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000287701.10_Missense_Mutation_p.P255S|HMBOX1_ENST00000524238.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000355231.5_Missense_Mutation_p.P255S|HMBOX1_ENST00000403668.2_Missense_Mutation_p.P255S|HMBOX1_ENST00000523613.1_Missense_Mutation_p.P255S	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	255					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		ACAAACGCCTCCCCCAGTCTC	0.493													37	48					0	0	0	0	T	28876342	C	T	28876342	3	4	328	1	0	0	0	0	1	0	0	0	7268	855	30	2	781	2	HMBOX1	8	28876342	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	657738	28876342	117487680	1118	59332											
HMBOX1	79618	broad.mit.edu	37	chr8	28904909	28904909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatctggaaagagttacctcCctgaaagtatataattggtt	13	13	9	6	0	1	2	0	1	1	1	2	4	2	3	2	2	1	3	2	2	6	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:28904909C>T	ENST00000397358.3	+	9	1673	c.969C>T	c.(967-969)tcC>tcT	p.S323S	HMBOX1_ENST00000519047.1_Silent_p.S323S|HMBOX1_ENST00000558662.1_Silent_p.S323S|HMBOX1_ENST00000444075.1_Silent_p.S323S|HMBOX1_ENST00000287701.10_Silent_p.S323S|HMBOX1_ENST00000524238.1_Silent_p.S323S|HMBOX1_ENST00000355231.5_Silent_p.S323S|HMBOX1_ENST00000523613.1_Silent_p.S323S|HMBOX1_ENST00000517386.1_3'UTR	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	323					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GAGTTACCTCCCTGAAAGTAT	0.378													23	38					0	0	0	0	T	28904909	C	T	28904909	2	4	328	1	0	0	0	0	0	0	0	1	7268	610	22	4		4	HMBOX1	8	28904909	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	28567	28904909	117459113	1119	59333											
UBXN8	7993	broad.mit.edu	37	chr8	30620834	30620834	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccagtgggaatgtcctgagGagaaggttttgaagtcctac	10	10	13	8	0	0	3	0	2	0	1	2	5	2	4	3	3	1	1	3	3	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:30620834G>A	ENST00000519246.1	+	0	814							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						ATGTCCTGAGGAGAAGGTTTT	0.408													11	30					0	0	0	0	A	30620834	G	A	30620834	1	1	328	0	1	0	0	0	0	0	0	0	17015	1165	41	2		2	UBXN8	8	30620834	RNA	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1715925	30620834	115743188	1120	59334											
UNC5D	137970	broad.mit.edu	37	chr8	35402036	35402036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgggttcctgttggacttttCctcccaaacttcaccaggta	7	13	8	13	1	1	0	1	0	0	0	4	1	4	1	4	3	1	3	4	3	2	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:35402036C>T	ENST00000453357.2	+	1	127	c.71C>T	c.(70-72)tCc>tTc	p.S24F	UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000404895.2_Intron			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	0					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGGACTTTTCCTCCCAAACT	0.403													24	35					0	0	0	0	T	35402036	C	T	35402036	3	4	328	1	0	0	0	0	1	0	0	0	17091	870	30	2		2	UNC5D	8	35402036	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4781202	35402036	110961986	1121	59335											
UNC5D	137970	broad.mit.edu	37	chr8	35453130	35453130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagttcccattgaaggcatGattgtactgcactgccgccc	9	10	10	12	1	0	2	0	2	0	0	1	3	1	2	3	1	3	4	3	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:35453130G>A	ENST00000287272.2	+	4	545	c.525G>A	c.(523-525)atG>atA	p.M175I	UNC5D_ENST00000416672.1_Missense_Mutation_p.M175I|UNC5D_ENST00000453357.2_Missense_Mutation_p.M170I|UNC5D_ENST00000420357.1_Missense_Mutation_p.M175I|UNC5D_ENST00000404895.2_Missense_Mutation_p.M175I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	175	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGAAGGCATGATTGTACTGC	0.517													42	70					0	0	0	0	A	35453130	G	A	35453130	3	1	328	1	0	0	0	0	1	0	0	0	17091	1290	45	2	539	2	UNC5D	8	35453130	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	51094	35453130	110910892	1122	59336											
KCNU1	157855	broad.mit.edu	37	chr8	36793292	36793292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaactaactccctctcttttCctaagcaaatagcatggaat	13	12	5	11	0	1	0	0	0	1	0	4	2	3	1	2	1	4	2	2	1	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:36793292C>T	ENST00000399881.3	+	27	3341	c.3304C>T	c.(3304-3306)Cct>Tct	p.P1102S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1102						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTCTCTTTTCCTAAGCAAAT	0.373													48	65					0	0	0	0	T	36793292	C	T	36793292	3	4	328	1	0	0	0	0	1	0	0	0	8146	855	30	2	3410	2	KCNU1	8	36793292	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1340162	36793292	109570730	1123	59337											
GPR124	25960	broad.mit.edu	37	chr8	37688263	37688263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcacacacaccacctcatcCcgtccctacgccaagtggtg	9	7	7	18	2	1	0	1	0	0	0	3	0	3	0	5	1	2	1	5	1	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:37688263C>T	ENST00000315215.7	+	7	1117	c.754C>T	c.(754-756)Ccg>Tcg	p.P252S	GPR124_ENST00000412232.2_Missense_Mutation_p.P252S			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	252	Ig-like.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCACCTCATCCCGTCCCTACG	0.657													6	9					0	0	0	0	T	37688263	C	T	37688263	3	4	328	1	0	0	0	0	1	0	0	0	6687	623	22	4	759	4	GPR124	8	37688263	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	894971	37688263	108675759	1124	59338											
GPR124	25960	broad.mit.edu	37	chr8	37688398	37688398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgagcaggcgggcatcCtcctggccgagagcctcatc	7	7	14	13	2	1	3	1	2	0	1	4	4	3	3	4	3	2	2	4	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:37688398C>T	ENST00000315215.7	+	7	1252	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	GPR124_ENST00000412232.2_Missense_Mutation_p.L297F			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	297	Ig-like.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L290F(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCGGGCATCCTCCTGGCCGA	0.647													6	5					0	0	0	0	T	37688398	C	T	37688398	3	4	328	1	0	0	0	0	1	0	0	0	6687	681	24	4	894	4	GPR124	8	37688398	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	135	37688398	108675624	1125	59339											
BRF2	55290	broad.mit.edu	37	chr8	37702243	37702243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcccctggggtaaacctaagGaattatttcccacctcccct	9	11	6	15	0	0	0	0	0	0	0	3	1	3	1	7	3	1	1	7	3	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:37702243G>A	ENST00000220659.6	-	4	1145	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	342					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TAAACCTAAGGAATTATTTCC	0.622													23	36					0	0	0	0	A	37702243	G	A	37702243	3	1	328	1	0	0	0	0	1	0	0	0	1519	1174	41	2	238	2	BRF2	8	37702243	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	13845	37702243	108661779	1126	59340											
ADAM9	8754	broad.mit.edu	37	chr8	38871527	38871527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtttatacttacaacaagGaagggactttaatcactgac	14	12	8	7	0	1	1	1	1	0	0	1	3	1	3	0	3	3	1	0	3	7	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:38871527G>A	ENST00000487273.2	+	4	376	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ADAM9_ENST00000466936.1_Missense_Mutation_p.E100K|ADAM9_ENST00000481513.1_Missense_Mutation_p.E100K	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	100				Missing (in Ref. 2; no nucleotide entry).	activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTACAACAAGGAAGGGACTTT	0.303													42	55					0	0	0	0	A	38871527	G	A	38871527	3	1	328	1	0	0	0	0	1	0	0	0	253	1175	41	2	312	2	ADAM9	8	38871527	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1169284	38871527	107492495	1127	59341											
IDO1	3620	broad.mit.edu	37	chr8	39785653	39785653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcactgatttaatgaatttCctgaagactgtaagaagtac	14	12	9	6	0	0	5	0	3	0	2	1	5	1	5	1	1	1	3	1	1	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:39785653C>T	ENST00000518237.1	+	10	1800	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	IDO1_ENST00000522495.1_Silent_p.F387F|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	387					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TAATGAATTTCCTGAAGACTG	0.418													5	9					0	0	0	0	T	39785653	C	T	39785653	2	4	328	1	0	0	0	0	0	0	0	1	7554	854	30	2		2	IDO1	8	39785653	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	914126	39785653	106578369	1128	59342											
PLAT	5327	broad.mit.edu	37	chr8	42046585	42046585	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcgttttttcatctctgcaGatcactatgagaaaagacag	12	13	8	8	1	3	3	2	1	1	3	4	4	3	3	0	0	2	2	0	0	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:42046585G>A	ENST00000220809.4	-	4	376	c.120C>T	c.(118-120)atC>atT	p.I40I	PLAT_ENST00000352041.3_Intron|PLAT_ENST00000270189.6_Silent_p.I40I|PLAT_ENST00000429089.2_Silent_p.I40I|PLAT_ENST00000429710.2_Silent_p.I40I|PLAT_ENST00000519510.1_Silent_p.I40I|PLAT_ENST00000524009.1_Silent_p.I40I	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	40	Fibronectin type-I.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CATCTCTGCAGATCACTATGA	0.473													57	63					0	0	0	0	A	42046585	G	A	42046585	2	1	328	1	0	0	0	0	0	0	0	1	12093	932	33	2		2	PLAT	8	42046585	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2260932	42046585	104317437	1129	59343											
FNTA	2339	broad.mit.edu	37	chr8	42940390	42940390	+	Missense_Mutation	SNP	A	A	T																															cccttcaaagcaaacacagcAcagaaaatgactcaccaaca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:42940390A>T	ENST00000529687.1	+	9	1540	c.652A>T	c.(652-654)Aca>Tca	p.T218S	FNTA_ENST00000342116.4_Missense_Mutation_p.T302S|FNTA_ENST00000302279.3_Missense_Mutation_p.T369S			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	369					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CAAACACAGCACAGAAAATGA	0.358													18	31					0	0	0	0	T	42940390	A	T	42940390	3	4	328	1	0	0	0	0	1	0	0	0	6022	159	6	5	1139	5	FNTA	8	42940390	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	893805	42940390	103423632	1130	59344	575	2									
FNTA	2339	broad.mit.edu	37	chr8	42940391	42940391	+	Missense_Mutation	SNP	C	C	T																															ccttcaaagcaaacacagcaCagaaaatgactcaccaacaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:42940391C>T	ENST00000529687.1	+	9	1541	c.653C>T	c.(652-654)aCa>aTa	p.T218I	FNTA_ENST00000342116.4_Missense_Mutation_p.T302I|FNTA_ENST00000302279.3_Missense_Mutation_p.T369I			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	369					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AAACACAGCACAGAAAATGAC	0.358													18	32					0	0	0	0	T	42940391	C	T	42940391	3	4	328	1	0	0	0	0	1	0	0	0	6022	478	17	4	1140	4	FNTA	8	42940391	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	42940391	103423631	1131	59345	575	2									
POTEA	340441	broad.mit.edu	37	chr8	43159892	43159892	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaccagatgccaaacaactCttctggaaatagcaatccag	17	7	6	11	0	2	1	0	0	2	1	3	2	3	2	3	1	5	1	3	1	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:43159892C>T	ENST00000522175.2	+	0	748							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.S295Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCAAACAACTCTTCTGGAAAT	0.338													41	55					0	0	0	0	T	43159892	C	T	43159892	1	4	328	0	1	0	0	0	0	0	0	0	12333	913	32	2		2	POTEA	8	43159892	RNA	SNP	C	TCGA-CV-7568-01A-11D-2229-08	219501	43159892	103204130	1132	59346											
PRKDC	5591	broad.mit.edu	37	chr8	48826618	48826618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttcatcatctcatctgagGacgtgactgttagaaaagat	12	13	8	8	1	5	4	3	2	3	2	6	5	5	5	0	1	0	1	0	1	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:48826618G>A	ENST00000314191.2	-	24	2680	c.2624C>T	c.(2623-2625)tCc>tTc	p.S875F	PRKDC_ENST00000338368.3_Missense_Mutation_p.S875F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	875					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTCATCTGAGGACGTGACTGT	0.388								Non-homologous end-joining					17	29					0	0	0	0	A	48826618	G	A	48826618	3	1	328	1	0	0	0	0	1	0	0	0	12601	1174	41	2	10013	2	PRKDC	8	48826618	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5666726	48826618	97537404	1133	59347											
SNTG1	54212	broad.mit.edu	37	chr8	51617306	51617306	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctttctagaagtagaacgGatacaggtgagagtctgtgg	12	10	13	6	1	2	3	0	1	2	3	2	5	2	4	1	3	2	1	1	3	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:51617306G>A	ENST00000522124.1	+	16	1846	c.1185G>A	c.(1183-1185)cgG>cgA	p.R395R	SNTG1_ENST00000276467.5_Silent_p.R395R|SNTG1_ENST00000517473.1_Silent_p.R395R|SNTG1_ENST00000518864.1_Silent_p.R395R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	395					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AAGTAGAACGGATACAGGTGA	0.493													20	24					0	0	0	0	A	51617306	G	A	51617306	2	1	328	1	0	0	0	0	0	0	0	1	14962	1161	41	2		2	SNTG1	8	51617306	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2790688	51617306	94746716	1134	59348											
ST18	9705	broad.mit.edu	37	chr8	53073958	53073958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggaaatggtggtgtttttCgtccttgcactgtttgtatg	6	17	12	6	1	0	0	0	0	0	0	2	1	1	1	1	3	1	4	1	3	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:53073958C>T	ENST00000276480.7	-	14	2254	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	524						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R524Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGTGTTTTTCGTCCTTGCAC	0.438													25	61					0	0	0	0	T	53073958	C	T	53073958	3	4	328	1	0	0	0	0	1	0	0	0	15302	884	31	1	1624	1	ST18	8	53073958	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1456652	53073958	93290064	1135	59349											
ST18	9705	broad.mit.edu	37	chr8	53126851	53126851	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagtcctgaggtcattcCtttgacattgaccaaaatat	14	12	6	9	0	1	3	1	3	0	0	3	3	3	3	3	1	0	0	3	1	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:53126851C>T	ENST00000276480.7	-	7	651		c.e7-1			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGGTCATTCCTTTGACATTG	0.423													23	31					0	0	0	0	T	53126851	C	T	53126851	5	4	328	1	0	0	0	0	0	0	1	0	15302	695	24	4		4	ST18	8	53126851	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	52893	53126851	93237171	1136	59350											
FAM150A	389658	broad.mit.edu	37	chr8	53452429	53452429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctggtattgtaatagagtCggtggaaatgtttgctgcat	9	14	12	6	1	0	1	0	0	0	1	1	2	0	2	1	3	2	5	1	3	4	5	rs145116532		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:53452429C>T	ENST00000358543.4	-	3	537	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	FAM150A_ENST00000523939.1_Missense_Mutation_p.R96Q	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	96						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				GTAATAGAGTCGGTGGAAATG	0.363													19	32					0	0	0	0	T	53452429	C	T	53452429	3	4	328	1	0	0	0	0	1	0	0	0	5497	884	31	1	110	1	FAM150A	8	53452429	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	325578	53452429	92911593	1137	59351											
OPRK1	4986	broad.mit.edu	37	chr8	54147344	54147344	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgactttggtgcctccaagGactattgcagagatgccaac	10	10	10	11	0	0	2	0	1	0	1	1	4	1	3	3	2	4	1	3	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:54147344G>A	ENST00000265572.3	-	3	882	c.585C>T	c.(583-585)gtC>gtT	p.V195V	OPRK1_ENST00000520287.1_Silent_p.V195V|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.V106V	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	195					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGCCTCCAAGGACTATTGCAG	0.438													20	67					0	0	0	0	A	54147344	G	A	54147344	2	1	328	1	0	0	0	0	0	0	0	1	10956	1161	41	2		2	OPRK1	8	54147344	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	694915	54147344	92216678	1138	59352											
RP1	6101	broad.mit.edu	37	chr8	55538529	55538529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttgcaaccaaaggaattcTtaataagaatgagagaataa	19	9	8	5	0	1	3	0	1	1	2	1	5	1	4	1	1	2	2	1	1	8	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:55538529T>C	ENST00000220676.1	+	4	2235	c.2087T>C	c.(2086-2088)cTt>cCt	p.L696P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	696					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAGGAATTCTTAATAAGAAT	0.358													18	22					0	0	0	0	C	55538529	T	C	55538529	3	2	328	1	0	0	0	0	1	0	0	0	13617	1609	56	5	2097	5	RP1	8	55538529	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1391185	55538529	90825493	1139	59353											
RP1	6101	broad.mit.edu	37	chr8	55541534	55541534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctatgttgcaggaattccagGaggaaagacaagataagtgt	15	9	12	5	0	0	2	0	0	0	2	1	5	1	5	1	3	1	2	1	3	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:55541534G>A	ENST00000220676.1	+	4	5240	c.5092G>A	c.(5092-5094)Gag>Aag	p.E1698K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1698					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGAATTCCAGGAGGAAAGACA	0.403													47	79					0	0	0	0	A	55541534	G	A	55541534	3	1	328	1	0	0	0	0	1	0	0	0	13617	1175	41	2	5102	2	RP1	8	55541534	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3005	55541534	90822488	1140	59354											
LYN	4067	broad.mit.edu	37	chr8	56912075	56912075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttggaatcctcctatacGaaattgtcacctatgggaaa	12	12	7	10	1	1	0	1	0	0	0	3	3	3	2	4	2	1	0	4	2	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:56912075G>A	ENST00000520220.2	+	12	1514	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	LYN_ENST00000519728.1_Missense_Mutation_p.E435K	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	435	Protein kinase.				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|T cell costimulation	cytosol|Golgi apparatus|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)			CCTCCTATACGAAATTGTCAC	0.403													28	38					0	0	0	0	A	56912075	G	A	56912075	3	1	328	1	0	0	0	0	1	0	0	0	9172	1059	37	1	1345	1	LYN	8	56912075	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1370541	56912075	89451947	1141	59355											
UBXN2B	137886	broad.mit.edu	37	chr8	59359986	59359986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttattgtacagtctcgtcCtgaatttgcggctcttgact	6	17	8	10	2	2	2	0	2	2	0	4	2	3	2	1	1	2	2	1	1	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:59359986C>T	ENST00000399598.2	+	8	994	c.872C>T	c.(871-873)cCt>cTt	p.P291L		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	291	UBX.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						CAGTCTCGTCCTGAATTTGCG	0.333													30	50					0	0	0	0	T	59359986	C	T	59359986	3	4	328	1	0	0	0	0	1	0	0	0	17011	681	24	4	902	4	UBXN2B	8	59359986	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2447911	59359986	87004036	1142	59356											
CHD7	55636	broad.mit.edu	37	chr8	61741254	61741254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgctgacgggaaccccactCcagaacactgtggaagaact	12	6	10	13	1	0	3	0	1	0	2	1	5	1	5	3	2	4	1	3	2	4	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:61741254C>T	ENST00000423902.2	+	14	3890	c.3411C>T	c.(3409-3411)ctC>ctT	p.L1137L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1137	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAACCCCACTCCAGAACACTG	0.423													9	12					0	0	0	0	T	61741254	C	T	61741254	2	4	328	1	0	0	0	0	0	0	0	1	3359	842	30	2		2	CHD7	8	61741254	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2381268	61741254	84622768	1143	59357											
CLVS1	157807	broad.mit.edu	37	chr8	62212563	62212563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcagcaagtcagggacatGatcatcaccaggcctgacat	13	8	9	11	0	4	2	4	2	0	0	4	3	4	3	2	2	1	1	2	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:62212563G>A	ENST00000519846.1	+	3	649	c.177G>A	c.(175-177)atG>atA	p.M59I	CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.M59I			Q8IUQ0	CLVS1_HUMAN	clavesin 1	59					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCAGGGACATGATCATCACCA	0.468													21	48					0	0	0	0	A	62212563	G	A	62212563	3	1	328	1	0	0	0	0	1	0	0	0	3601	1290	45	2	179	2	CLVS1	8	62212563	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	471309	62212563	84151459	1144	59358											
CLVS1	157807	broad.mit.edu	37	chr8	62212800	62212800	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaccgagaccattacggcagGaagattcttttgctgtttgc	10	12	10	9	2	1	2	0	0	1	2	1	4	1	3	2	2	4	3	2	2	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:62212800G>A	ENST00000519846.1	+	3	886	c.414G>A	c.(412-414)agG>agA	p.R138R	CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Silent_p.R138R|RP11-787D18.1_ENST00000518064.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	138	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATTACGGCAGGAAGATTCTTT	0.448													17	20					0	0	0	0	A	62212800	G	A	62212800	2	1	328	1	0	0	0	0	0	0	0	1	3601	1165	41	2		2	CLVS1	8	62212800	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	237	62212800	84151222	1145	59359											
DNAJC5B	85479	broad.mit.edu	37	chr8	66992705	66992705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtggacactgccggcccGagtcatcagtgccagaagag	9	6	14	12	2	2	2	2	0	0	2	2	4	2	3	3	2	2	1	3	2	1	0	rs143168011	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:66992705G>A	ENST00000276570.5	+	5	714	c.427G>A	c.(427-429)Gag>Aag	p.E143K	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	143					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CTGCCGGCCCGAGTCATCAGT	0.562													23	18					0	0	0	0	A	66992705	G	A	66992705	3	1	328	1	0	0	0	0	1	0	0	0	4687	1059	37	1	437	1	DNAJC5B	8	66992705	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4779905	66992705	79371317	1146	59360											
ARFGEF1	10565	broad.mit.edu	37	chr8	68145181	68145181	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtccacatttcctccaaCtaccacacataaaaaaaagt	17	8	2	14	0	0	0	0	0	0	0	3	0	3	0	5	0	2	0	5	0	6	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:68145181C>T	ENST00000262215.3	-	23	3679		c.e23-1		ARFGEF1_ENST00000518230.1_Splice_Site|ARFGEF1_ENST00000520381.1_Splice_Site	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTTCCTCCAACTACCACACAT	0.348													41	74					0	0	0	0	T	68145181	C	T	68145181	5	4	328	1	0	0	0	0	0	0	1	0	854	579	20	4	2328	4	ARFGEF1	8	68145181	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1152476	68145181	78218841	1147	59361											
CPA6	57094	broad.mit.edu	37	chr8	68334806	68334806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcatagtttctgtacaggtgGgtttgatgagcatctctggg	7	14	14	6	0	2	2	0	2	2	0	3	2	2	2	0	3	2	5	0	3	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:68334806G>A	ENST00000297770.4	-	11	1462	c.1247C>T	c.(1246-1248)cCc>cTc	p.P416L	CPA6_ENST00000297769.4_Missense_Mutation_p.P172L	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	416					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TGTACAGGTGGGTTTGATGAG	0.433													55	90					0	0	0	0	A	68334806	G	A	68334806	3	1	328	1	0	0	0	0	1	0	0	0	3824	1232	43	4	70	4	CPA6	8	68334806	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	189625	68334806	78029216	1148	59362											
C8orf34	116328	broad.mit.edu	37	chr8	69552622	69552622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttacagaggatcttaatGatttaagaatggagggagta	14	13	12	2	0	1	3	0	1	1	2	1	6	1	6	0	3	1	2	0	3	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:69552622G>A	ENST00000337103.4	+	7	2376	c.784G>A	c.(784-786)Gat>Aat	p.D262N	C8orf34_ENST00000325233.3_Missense_Mutation_p.D31N|C8orf34_ENST00000539993.1_Missense_Mutation_p.D287N|C8orf34_ENST00000518698.1_Missense_Mutation_p.D373N			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	287					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGATCTTAATGATTTAAGAAT	0.398													17	21					0	0	0	0	A	69552622	G	A	69552622	3	1	328	1	0	0	0	0	1	0	0	0	2446	1290	45	2	810	2	C8orf34	8	69552622	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1217816	69552622	76811400	1149	59363											
SULF1	23213	broad.mit.edu	37	chr8	70501299	70501299	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcccgttatgatggtgatCagccacgctgcgccccacgg	7	7	13	14	4	1	2	1	2	0	0	1	2	1	2	4	3	2	2	4	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:70501299C>T	ENST00000260128.4	+	8	1374	c.657C>T	c.(655-657)atC>atT	p.I219I	SULF1_ENST00000458141.2_Silent_p.I219I|SULF1_ENST00000419716.3_Silent_p.I219I|SULF1_ENST00000402687.4_Silent_p.I219I	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	219					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGATGGTGATCAGCCACGCTG	0.468													20	24					0	0	0	0	T	70501299	C	T	70501299	2	4	328	1	0	0	0	0	0	0	0	1	15460	816	29	2		2	SULF1	8	70501299	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	948677	70501299	75862723	1150	59364											
EYA1	2138	broad.mit.edu	37	chr8	72111619	72111619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggtgcagggccatgaggtCcgagtggctggagatcctcc	7	8	16	10	1	0	2	0	1	0	1	3	4	3	2	4	5	1	2	4	5	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:72111619C>A	ENST00000340726.3	-	18	2374	c.1735G>T	c.(1735-1737)Gac>Tac	p.D579Y	EYA1_ENST00000388740.3_Missense_Mutation_p.D546Y|EYA1_ENST00000388741.2_Missense_Mutation_p.D545Y|RP11-326E22.1_ENST00000521685.1_RNA|EYA1_ENST00000419131.1_Missense_Mutation_p.D544Y|EYA1_ENST00000303824.7_Missense_Mutation_p.D573Y|EYA1_ENST00000388743.2_Missense_Mutation_p.D578Y|EYA1_ENST00000388742.4_Missense_Mutation_p.D579Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	579					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCCATGAGGTCCGAGTGGCTG	0.597													6	18					2.0095e-06	2.02221e-06	1	0	A	72111619	C	A	72111619	3	1	328	1	0	0	0	0	1	0	0	0	5366	855	30	2	47	2	EYA1	8	72111619	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1610320	72111619	74252403	1151	59365											
MSC	9242	broad.mit.edu	37	chr8	72756324	72756324	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgctctacgccgcggagGggcggcctcttggaggcggg	3	6	19	13	6	2	0	0	0	2	0	2	2	2	2	2	7	2	1	2	7	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:72756324G>A	ENST00000325509.4	-	1	379	c.90C>T	c.(88-90)ccC>ccT	p.P30P	RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	30					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CGCCGCGGAGGGGCGGCCTCT	0.706													10	12					0	0	0	0	A	72756324	G	A	72756324	2	1	328	1	0	0	0	0	0	0	0	1	9938	1219	43	4		4	MSC	8	72756324	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	644705	72756324	73607698	1152	59366											
TRPA1	8989	broad.mit.edu	37	chr8	72958801	72958801	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtaggtgtttttttggTgaattctaatggacattgaa	9	18	11	3	0	1	2	0	2	1	0	1	3	1	3	0	3	0	2	0	3	4	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:72958801T>G	ENST00000262209.4	-	17	2215	c.2008A>C	c.(2008-2010)Acc>Ccc	p.T670P	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	670						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTTTTTTTGGTGAATTCTAAT	0.294													29	42					0	0	0	0	G	72958801	T	G	72958801	3	3	328	1	0	0	0	0	1	0	0	0	16672	1696	59	5	1395	5	TRPA1	8	72958801	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	202477	72958801	73405221	1153	59367											
KCNB2	9312	broad.mit.edu	37	chr8	73849557	73849557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgtttctaactctatccaGagagaaaggacctgctgcca	11	9	8	13	1	2	2	0	0	2	2	3	4	3	3	4	1	3	2	4	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:73849557G>A	ENST00000523207.1	+	3	2555	c.1967G>A	c.(1966-1968)aGa>aAa	p.R656K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	656					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTCTATCCAGAGAGAAAGGA	0.577													27	48					0	0	0	0	A	73849557	G	A	73849557	3	1	328	1	0	0	0	0	1	0	0	0	8066	942	33	2	1973	2	KCNB2	8	73849557	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	890756	73849557	72514465	1154	59368											
TERF1	7013	broad.mit.edu	37	chr8	73958353	73958353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagaaactaaaactgatttCctcagacagcgaagactgat	17	8	8	8	1	1	5	1	2	0	3	2	7	2	5	1	0	3	0	1	0	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:73958353C>T	ENST00000276602.6	+	9	1264	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	TERF1_ENST00000276603.5_Missense_Mutation_p.S434F	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	434	HTH myb-type.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AAACTGATTTCCTCAGACAGC	0.353													17	45					0	0	0	0	T	73958353	C	T	73958353	3	4	328	1	0	0	0	0	1	0	0	0	15855	855	30	2	1339	2	TERF1	8	73958353	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	108796	73958353	72405669	1155	59369											
HNF4G	3174	broad.mit.edu	37	chr8	76472686	76472686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccatgtcaacactggttCatgcagaccagatctgtaag	11	10	9	11	0	3	2	2	0	1	2	4	2	4	2	2	1	2	3	2	1	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:76472686C>T	ENST00000396423.2	+	9	1325	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y	HNF4G_ENST00000354370.1_Missense_Mutation_p.H364Y	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	364					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AACACTGGTTCATGCAGACCA	0.373													18	34					0	0	0	0	T	76472686	C	T	76472686	3	4	328	1	0	0	0	0	1	0	0	0	7304	826	29	2	1235	2	HNF4G	8	76472686	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2514333	76472686	69891336	1156	59370											
FABP4	2167	broad.mit.edu	37	chr8	82395376	82395376	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttttcactggagacaagtttCcaggtacctacaaaagcatc	13	11	7	10	0	1	1	1	0	0	1	3	2	2	1	2	2	3	3	2	2	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:82395376C>T	ENST00000256104.4	-	1	122	c.27G>A	c.(25-27)tgG>tgA	p.W9*	FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	9					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			AGACAAGTTTCCAGGTACCTA	0.378													8	21					0	0	0	0	T	82395376	C	T	82395376	4	4	328	1	0	0	0	0	0	1	0	0	5400	856	30	2	387	2	FABP4	8	82395376	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5922690	82395376	63968646	1157	59371											
ZFAND1	79752	broad.mit.edu	37	chr8	82627224	82627224	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctaagtgatcaatcacctCaggcaaaaattcttctcaca	14	10	5	12	0	5	1	4	1	2	0	6	1	5	1	2	1	0	1	2	1	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:82627224C>T	ENST00000220669.5	-	4	282	c.264G>A	c.(262-264)ctG>ctA	p.L88L	ZFAND1_ENST00000522520.1_5'UTR|ZFAND1_ENST00000517588.1_5'UTR|ZFAND1_ENST00000521287.1_5'UTR|ZFAND1_ENST00000523096.1_Silent_p.L88L|ZFAND1_ENST00000519523.1_Silent_p.L88L|ZFAND1_ENST00000521895.1_5'UTR	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	88							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCAATCACCTCAGGCAAAAAT	0.393													34	53					0	0	0	0	T	82627224	C	T	82627224	2	4	328	1	0	0	0	0	0	0	0	1	17721	813	29	2		2	ZFAND1	8	82627224	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	231848	82627224	63736798	1158	59372											
CNGB3	54714	broad.mit.edu	37	chr8	87588325	87588325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcttcattttcttttcCttcttcctctcctccttcag	3	23	1	14	0	6	0	2	0	4	0	10	0	9	0	4	0	0	0	4	0	1	10			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:87588325C>T	ENST00000320005.5	-	18	2184	c.2137G>A	c.(2137-2139)Gga>Aga	p.G713R		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	713					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ttttcttttccttcttcctct	0.294													9	25					0	0	0	0	T	87588325	C	T	87588325	3	4	328	1	0	0	0	0	1	0	0	0	3631	690	24	4	296	4	CNGB3	8	87588325	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4961101	87588325	58775697	1159	59373											
MMP16	4325	broad.mit.edu	37	chr8	89179954	89179954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgagtcaaaatgggtatctCctccaattcctggtccaggg	9	11	10	11	0	2	1	1	1	1	0	6	1	5	1	4	3	0	1	4	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:89179954C>T	ENST00000286614.6	-	4	934	c.653G>A	c.(652-654)gGa>gAa	p.G218E	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	218					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATGGGTATCTCCTCCAATTCC	0.408													28	39					0	0	0	0	T	89179954	C	T	89179954	3	4	328	1	0	0	0	0	1	0	0	0	9724	855	30	2	1354	2	MMP16	8	89179954	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1591629	89179954	57184068	1160	59374											
MMP16	4325	broad.mit.edu	37	chr8	89209496	89209496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgcagcactgacattctggGgtcagtcggtggaaggtagc	8	8	16	9	2	2	1	1	1	1	0	3	2	2	2	0	5	2	3	0	5	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:89209496G>A	ENST00000286614.6	-	2	453	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	58					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GACATTCTGGGGTCAGTCGGT	0.428													18	39					0	0	0	0	A	89209496	G	A	89209496	3	1	328	1	0	0	0	0	1	0	0	0	9724	1232	43	4	1843	4	MMP16	8	89209496	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	29542	89209496	57154526	1161	59375											
NBN	4683	broad.mit.edu	37	chr8	90958431	90958431	+	Silent	SNP	G	G	A																															tttatgccagatggatttctGgaagtagagtttttaatcac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:90958431G>A	ENST00000265433.3	-	13	2161	c.2007C>T	c.(2005-2007)tcC>tcT	p.S669S	NBN_ENST00000409330.1_Silent_p.S587S	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	669					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATGGATTTCTGGAAGTAGAGT	0.323								Homologous recombination					20	51					0	0	0	0	A	90958431	G	A	90958431	2	1	328	1	0	0	0	0	0	0	0	1	10261	1335	47	4		4	NBN	8	90958431	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1748935	90958431	55405591	1162	59376	576	2									
NBN	4683	broad.mit.edu	37	chr8	90958432	90958432	+	Missense_Mutation	SNP	G	G	A																															ttatgccagatggatttctgGaagtagagtttttaatcacc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:90958432G>A	ENST00000265433.3	-	13	2160	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F	NBN_ENST00000409330.1_Missense_Mutation_p.S587F	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	669					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGGATTTCTGGAAGTAGAGTT	0.328								Homologous recombination					20	54					0	0	0	0	A	90958432	G	A	90958432	3	1	328	1	0	0	0	0	1	0	0	0	10261	1174	41	2	274	2	NBN	8	90958432	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	90958432	55405590	1163	59377	576	2									
TMEM55A	55529	broad.mit.edu	37	chr8	92007924	92007924	+	Missense_Mutation	SNP	G	G	A																															cttatgcaaaactgtgttctGgataactgactcttatggct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:92007924G>A	ENST00000285419.3	-	7	1069	c.755C>T	c.(754-756)cCa>cTa	p.P252L		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	252						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			ACTGTGTTCTGGATAACTGAC	0.398													21	49					0	0	0	0	A	92007924	G	A	92007924	3	1	328	1	0	0	0	0	1	0	0	0	16275	1348	47	4	22	4	TMEM55A	8	92007924	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1049492	92007924	54356098	1164	59378	577	2									
TMEM55A	55529	broad.mit.edu	37	chr8	92007925	92007925	+	Missense_Mutation	SNP	G	G	A																															ttatgcaaaactgtgttctgGataactgactcttatggctc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:92007925G>A	ENST00000285419.3	-	7	1068	c.754C>T	c.(754-756)Cca>Tca	p.P252S		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	252						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			CTGTGTTCTGGATAACTGACT	0.403													21	49					0	0	0	0	A	92007925	G	A	92007925	3	1	328	1	0	0	0	0	1	0	0	0	16275	1174	41	2	23	2	TMEM55A	8	92007925	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	92007925	54356097	1165	59379	577	2									
SLC26A7	115111	broad.mit.edu	37	chr8	92401586	92401586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaagcttcacagtcctgcCctaatgagaagtgttattta	13	12	8	8	0	1	2	1	1	0	2	2	3	2	2	2	0	2	2	2	0	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:92401586C>T	ENST00000276609.3	+	16	1935	c.1696C>T	c.(1696-1698)Cct>Tct	p.P566S	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P566S|SLC26A7_ENST00000523719.1_Missense_Mutation_p.P566S	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	566	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACAGTCCTGCCCTAATGAGAA	0.423													70	150					0	0	0	0	T	92401586	C	T	92401586	3	4	328	1	0	0	0	0	1	0	0	0	14610	623	22	4	1754	4	SLC26A7	8	92401586	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	393661	92401586	53962436	1166	59380											
RUNX1T1	862	broad.mit.edu	37	chr8	93017469	93017469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgaggtactgggcagggttCtgtttggccagtcttgcgca	5	11	16	9	2	2	0	0	0	2	0	2	1	2	0	1	4	2	5	1	4	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:93017469C>T	ENST00000523629.1	-	6	1069	c.615G>A	c.(613-615)caG>caA	p.Q205Q	RUNX1T1_ENST00000520724.1_Silent_p.Q168Q|RUNX1T1_ENST00000422361.2_Silent_p.Q168Q|RUNX1T1_ENST00000518844.1_Silent_p.Q178Q|RUNX1T1_ENST00000521553.1_Silent_p.Q168Q|RUNX1T1_ENST00000436581.2_Silent_p.Q216Q|RUNX1T1_ENST00000396218.1_Silent_p.Q178Q|RUNX1T1_ENST00000360348.2_Silent_p.Q168Q|RUNX1T1_ENST00000265814.3_Silent_p.Q205Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	205	TAFH.				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)			GGGCAGGGTTCTGTTTGGCCA	0.562													36	36					0	0	0	0	T	93017469	C	T	93017469	2	4	328	1	0	0	0	0	0	0	0	1	13832	912	32	2		2	RUNX1T1	8	93017469	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	615883	93017469	53346553	1167	59381											
RBM12B	389677	broad.mit.edu	37	chr8	94746055	94746055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaggtctaaaattgtcagGaagtctagggtcctcctccg	10	10	12	9	1	3	0	1	0	2	0	6	2	6	2	3	4	0	0	3	4	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:94746055G>A	ENST00000399300.2	-	3	2797	c.2584C>T	c.(2584-2586)Cct>Tct	p.P862S	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.P742S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	862							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AAATTGTCAGGAAGTCTAGGG	0.522													52	72					0	0	0	0	A	94746055	G	A	94746055	3	1	328	1	0	0	0	0	1	0	0	0	13196	1174	41	2	425	2	RBM12B	8	94746055	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1728586	94746055	51617967	1168	59382											
RBM12B	389677	broad.mit.edu	37	chr8	94747912	94747912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctcctaagaacgtcaccctCcttaactgcattaccaccaa	12	10	3	16	1	2	1	1	0	1	1	4	1	3	1	5	0	4	1	5	0	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:94747912C>T	ENST00000399300.2	-	3	940	c.727G>A	c.(727-729)Gag>Aag	p.E243K	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.E243K	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	243							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACGTCACCCTCCTTAACTGCA	0.378													51	81					0	0	0	0	T	94747912	C	T	94747912	3	4	328	1	0	0	0	0	1	0	0	0	13196	864	30	2	2282	2	RBM12B	8	94747912	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1857	94747912	51616110	1169	59383											
TSPYL5	85453	broad.mit.edu	37	chr8	98289703	98289703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccacggttcccgctgttcCcacgaagacagtgtctgcgg	6	9	11	15	4	1	1	0	0	1	1	4	2	4	1	3	2	1	3	3	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:98289703C>T	ENST00000322128.3	-	1	473	c.370G>A	c.(370-372)Gga>Aga	p.G124R		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	124					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CCCGCTGTTCCCACGAAGACA	0.721													10	27					0	0	0	0	T	98289703	C	T	98289703	3	4	328	1	0	0	0	0	1	0	0	0	16757	632	22	4	887	4	TSPYL5	8	98289703	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3541791	98289703	48074319	1170	59384											
VPS13B	157680	broad.mit.edu	37	chr8	100829876	100829876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaagctgtagttcgggaaCattttgactgcctcacagcc	10	10	10	11	1	1	1	1	1	0	0	2	3	1	2	2	1	4	3	2	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:100829876C>T	ENST00000358544.2	+	45	8392	c.8281C>T	c.(8281-8283)Cat>Tat	p.H2761Y	VPS13B_ENST00000357162.2_Missense_Mutation_p.H2736Y|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2761					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTTCGGGAACATTTTGACTG	0.428													28	56					0	0	0	0	T	100829876	C	T	100829876	3	4	328	1	0	0	0	0	1	0	0	0	17286	478	17	4	8649	4	VPS13B	8	100829876	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2540173	100829876	45534146	1171	59385											
RIMS2	9699	broad.mit.edu	37	chr8	104897788	104897788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaaagcagagatgaatacGaaaggcaaaggagagaggaa	20	3	15	3	1	0	3	0	1	0	2	0	9	0	6	0	4	2	2	0	4	6	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:104897788G>A	ENST00000507740.1	+	2	621	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.E321K|RIMS2_ENST00000262231.10_Missense_Mutation_p.E129K|RIMS2_ENST00000436393.2_Missense_Mutation_p.E99K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	352	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGATGAATACGAAAGGCAAAG	0.433										HNSCC(12;0.0054)			10	30					0	0	0	0	A	104897788	G	A	104897788	3	1	328	1	0	0	0	0	1	0	0	0	13453	1059	37	1	1101	1	RIMS2	8	104897788	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4067912	104897788	41466234	1172	59386											
RIMS2	9699	broad.mit.edu	37	chr8	104955149	104955149	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagcccaacacggaggtTgcaaagtaagttttactaaa	16	8	10	7	1	0	1	0	0	0	1	0	3	0	2	1	2	4	4	1	2	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:104955149T>G	ENST00000507740.1	+	11	2308	c.2072T>G	c.(2071-2073)tTg>tGg	p.L691W	RIMS2_ENST00000406091.3_Missense_Mutation_p.L899W|RIMS2_ENST00000262231.10_Missense_Mutation_p.L738W|RIMS2_ENST00000436393.2_Missense_Mutation_p.L677W	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	961	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACACGGAGGTTGCAAAGTAAG	0.373										HNSCC(12;0.0054)			8	22					0	0	0	0	G	104955149	T	G	104955149	3	3	328	1	0	0	0	0	1	0	0	0	13453	1821	63	5	2876	5	RIMS2	8	104955149	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	57361	104955149	41408873	1173	59387											
RIMS2	9699	broad.mit.edu	37	chr8	105257206	105257206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagaaacaggcctggccgtgGaaatgaggaactggatgact	13	6	14	8	1	0	3	0	2	0	1	0	6	0	6	2	5	2	0	2	5	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:105257206G>A	ENST00000507740.1	+	18	3075	c.2839G>A	c.(2839-2841)Gaa>Aaa	p.E947K	RIMS2_ENST00000406091.3_Missense_Mutation_p.E1133K|RIMS2_ENST00000262231.10_Missense_Mutation_p.E972K|RIMS2_ENST00000339750.2_Missense_Mutation_p.E69K|RIMS2_ENST00000436393.2_Missense_Mutation_p.E1151K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1195					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGGCCGTGGAAATGAGGAA	0.463										HNSCC(12;0.0054)			51	86					0	0	0	0	A	105257206	G	A	105257206	3	1	328	1	0	0	0	0	1	0	0	0	13453	1175	41	2	3671	2	RIMS2	8	105257206	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	302057	105257206	41106816	1174	59388											
ABRA	137735	broad.mit.edu	37	chr8	107782411	107782411	+	Missense_Mutation	SNP	G	G	A																															ccccgctttccttttcgcccGgagccatgctgcccacctgt																								rs149782926		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:107782411G>A	ENST00000311955.3	-	1	62	c.8C>T	c.(7-9)cCg>cTg	p.P3L		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	3					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTTTCGCCCGGAGCCATGCT	0.592													10	38					0	0	0	0	A	107782411	G	A	107782411	3	1	328	1	0	0	0	0	1	0	0	0	100	1116	39	1	1145	1	ABRA	8	107782411	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2525205	107782411	38581611	1175	59389	578	2									
ABRA	137735	broad.mit.edu	37	chr8	107782412	107782412	+	Missense_Mutation	SNP	G	G	A																															cccgctttccttttcgcccgGagccatgctgcccacctgtc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:107782412G>A	ENST00000311955.3	-	1	61	c.7C>T	c.(7-9)Ccg>Tcg	p.P3S		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	3					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTTTCGCCCGGAGCCATGCTG	0.592													10	38					0	0	0	0	A	107782412	G	A	107782412	3	1	328	1	0	0	0	0	1	0	0	0	100	1174	41	2	1146	2	ABRA	8	107782412	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	107782412	38581610	1176	59390	578	2									
RSPO2	340419	broad.mit.edu	37	chr8	109001352	109001352	+	Missense_Mutation	SNP	C	C	T																															ggcaggaatgcaggcactctCcatactggcgcatcccttct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:109001352C>T	ENST00000276659.5	-	3	835	c.215G>A	c.(214-216)gGa>gAa	p.G72E	RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517939.1_Missense_Mutation_p.G5E|RSPO2_ENST00000517781.1_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	72					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CAGGCACTCTCCATACTGGCG	0.478													31	40					0	0	0	0	T	109001352	C	T	109001352	3	4	328	1	0	0	0	0	1	0	0	0	13795	855	30	2	532	2	RSPO2	8	109001352	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1218940	109001352	37362670	1177	59391	579	2									
RSPO2	340419	broad.mit.edu	37	chr8	109001353	109001353	+	Missense_Mutation	SNP	C	C	T																															gcaggaatgcaggcactctcCatactggcgcatcccttctc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:109001353C>T	ENST00000276659.5	-	3	834	c.214G>A	c.(214-216)Gga>Aga	p.G72R	RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517939.1_Missense_Mutation_p.G5R|RSPO2_ENST00000517781.1_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	72					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			AGGCACTCTCCATACTGGCGC	0.478													31	41					0	0	0	0	T	109001353	C	T	109001353	3	4	328	1	0	0	0	0	1	0	0	0	13795	603	21	4	533	4	RSPO2	8	109001353	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	109001353	37362669	1178	59392	579	2									
CSMD3	114788	broad.mit.edu	37	chr8	113277674	113277674	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attactccactccatgtgccAttaattgtacaagtcctgat	11	14	5	11	0	0	1	0	1	0	0	3	1	3	1	4	0	3	1	4	0	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:113277674A>G	ENST00000297405.5	-	60	9898	c.9654T>C	c.(9652-9654)aaT>aaC	p.N3218N	CSMD3_ENST00000352409.3_Silent_p.N3148N|CSMD3_ENST00000455883.2_Silent_p.N3049N|CSMD3_ENST00000343508.3_Silent_p.N3178N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3218	Sushi 24.					integral to membrane|plasma membrane		p.T3214_W3221del(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCATGTGCCATTAATTGTAC	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			37	82					0	0	0	0	G	113277674	A	G	113277674	2	3	328	1	0	0	0	0	0	0	0	1	3978	214	8	5		5	CSMD3	8	113277674	Silent	SNP	A	TCGA-CV-7568-01A-11D-2229-08	4276321	113277674	33086348	1179	59393											
CSMD3	114788	broad.mit.edu	37	chr8	113697683	113697683	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacattgagtggtcagcctGaaattccaatcgcagtatgt	11	12	10	8	1	1	3	1	3	0	0	3	3	2	3	2	1	1	2	2	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:113697683G>A	ENST00000297405.5	-	15	2678	c.2434C>T	c.(2434-2436)Cag>Tag	p.Q812*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q812*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q708*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q772*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	812	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTCAGCCTGAAATTCCAAT	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	42					0	0	0	0	A	113697683	G	A	113697683	4	1	328	1	0	0	0	0	0	1	0	0	3978	1299	45	2	8917	2	CSMD3	8	113697683	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	420009	113697683	32666339	1180	59394											
CSMD3	114788	broad.mit.edu	37	chr8	113697867	113697867	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccctggatcagagattatCgtccagatgcaatttaaatt	12	13	7	9	1	1	2	1	0	0	2	4	4	3	3	2	1	1	1	2	1	4	4	rs144040661		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:113697867C>T	ENST00000297405.5	-	15	2494	c.2250G>A	c.(2248-2250)acG>acA	p.T750T	CSMD3_ENST00000352409.3_Silent_p.T750T|CSMD3_ENST00000455883.2_Silent_p.T646T|CSMD3_ENST00000343508.3_Silent_p.T710T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	750	CUB 4.					integral to membrane|plasma membrane		p.T750T(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGAGATTATCGTCCAGATGC	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			39	64					0	0	0	0	T	113697867	C	T	113697867	2	4	328	1	0	0	0	0	0	0	0	1	3978	871	31	1		1	CSMD3	8	113697867	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	184	113697867	32666155	1181	59395											
CSMD3	114788	broad.mit.edu	37	chr8	113812430	113812430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaacagatccaacactttCgtccgtttgaaggtgcagcc	11	9	8	13	2	0	2	0	1	0	1	3	2	2	2	4	1	4	2	4	1	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:113812430C>T	ENST00000297405.5	-	13	2177	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	CSMD3_ENST00000352409.3_Missense_Mutation_p.E645K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E541K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E605K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	645	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAACACTTTCGTCCGTTTGA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	50					0	0	0	0	T	113812430	C	T	113812430	3	4	328	1	0	0	0	0	1	0	0	0	3978	893	31	1	9426	1	CSMD3	8	113812430	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	114563	113812430	32551592	1182	59396											
CSMD3	114788	broad.mit.edu	37	chr8	114290923	114290923	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactggaggtggcagatggaAtcctgttaacctaaaacaaa	15	8	10	8	0	0	1	0	0	0	1	1	3	1	3	2	4	2	2	2	4	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:114290923A>G	ENST00000297405.5	-	3	656	c.412T>C	c.(412-414)Ttc>Ctc	p.F138L	CSMD3_ENST00000352409.3_Missense_Mutation_p.F138L|CSMD3_ENST00000455883.2_Missense_Mutation_p.F138L|CSMD3_ENST00000343508.3_Missense_Mutation_p.F98L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	138	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCAGATGGAATCCTGTTAAC	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	39					0	0	0	0	G	114290923	A	G	114290923	3	3	328	1	0	0	0	0	1	0	0	0	3978	101	4	5	10987	5	CSMD3	8	114290923	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	478493	114290923	32073099	1183	59397											
MED30	90390	broad.mit.edu	37	chr8	118533124	118533124	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagccgcgccatgtccacCcctccgttggccgcgtcggg	3	7	13	18	6	0	0	0	0	0	0	3	0	2	0	7	2	2	2	7	2	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:118533124C>T	ENST00000297347.3	+	1	173	c.9C>T	c.(7-9)acC>acT	p.T3T	MED30_ENST00000522839.1_Silent_p.T3T	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	3					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CCATGTCCACCCCTCCGTTGG	0.721													9	9					0	0	0	0	T	118533124	C	T	118533124	2	4	328	1	0	0	0	0	0	0	0	1	9517	610	22	4		4	MED30	8	118533124	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4242201	118533124	27830898	1184	59398											
ENPP2	5168	broad.mit.edu	37	chr8	120577144	120577144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatcacgttaactccatttCtttccgaagcatatttcttc	9	18	3	11	2	3	0	1	0	2	0	6	1	5	0	2	0	2	2	2	0	4	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:120577144C>T	ENST00000427067.2	-	24	2426	c.2246G>A	c.(2245-2247)aGa>aAa	p.R749K	ENPP2_ENST00000522167.1_Missense_Mutation_p.R363K|ENPP2_ENST00000259486.6_Missense_Mutation_p.R780K|ENPP2_ENST00000522826.1_Missense_Mutation_p.R753K|ENPP2_ENST00000075322.6_Missense_Mutation_p.R728K			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	728					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AACTCCATTTCTTTCCGAAGC	0.358													18	46					0	0	0	0	T	120577144	C	T	120577144	3	4	328	1	0	0	0	0	1	0	0	0	5168	913	32	2	420	2	ENPP2	8	120577144	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2044020	120577144	25786878	1185	59399											
FAM83A	84985	broad.mit.edu	37	chr8	124195487	124195487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgagaagccctacctgaagGaaaaatccagcgccactgtg	13	6	10	12	1	0	2	0	2	0	1	1	4	1	3	4	1	3	0	4	1	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:124195487G>A	ENST00000518448.1	+	2	2405	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	FAM83A_ENST00000522648.1_Missense_Mutation_p.E131K|FAM83A_ENST00000318462.6_Missense_Mutation_p.E131K|FAM83A_ENST00000536633.1_Missense_Mutation_p.E131K|FAM83A_ENST00000546351.1_Missense_Mutation_p.E131K|FAM83A_ENST00000276699.6_Missense_Mutation_p.E131K			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	131										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTACCTGAAGGAAAAATCCAG	0.612													31	65					0	0	0	0	A	124195487	G	A	124195487	3	1	328	1	0	0	0	0	1	0	0	0	5679	1175	41	2	393	2	FAM83A	8	124195487	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3618343	124195487	22168535	1186	59400											
SQLE	6713	broad.mit.edu	37	chr8	126011789	126011789	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctcctaccgctgtcgccaCcgaaacgggggtctcctcgg	5	8	11	17	5	2	0	0	0	2	0	6	1	2	0	5	3	2	1	5	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:126011789C>T	ENST00000265896.5	+	1	1042	c.144C>T	c.(142-144)caC>caT	p.H48H	SQLE_ENST00000523430.1_Intron	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	48					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GCTGTCGCCACCGAAACGGGG	0.612													7	24					0	0	0	0	T	126011789	C	T	126011789	2	4	328	1	0	0	0	0	0	0	0	1	15218	506	18	4		4	SQLE	8	126011789	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1816302	126011789	20352233	1187	59401											
ADCY8	114	broad.mit.edu	37	chr8	131949383	131949383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatggtcctggcggggctCaggaagtccagacacgcagt	8	6	16	11	2	1	1	1	0	0	1	3	2	3	2	2	6	0	3	2	6	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:131949383C>T	ENST00000286355.5	-	5	3509	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E473K|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	473					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGCGGGGCTCAGGAAGTCCA	0.502										HNSCC(32;0.087)			25	40					0	0	0	0	T	131949383	C	T	131949383	3	4	328	1	0	0	0	0	1	0	0	0	300	835	29	2	2394	2	ADCY8	8	131949383	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5937594	131949383	14414639	1188	59402											
TG	7038	broad.mit.edu	37	chr8	133885314	133885314	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaaaatgtttaggtccaagGagctgtgaaataagaaatcg	16	10	11	4	1	0	3	0	2	0	1	2	4	1	4	1	2	1	2	1	2	7	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:133885314G>A	ENST00000220616.4	+	5	526	c.486G>A	c.(484-486)agG>agA	p.R162R	TG_ENST00000377869.1_Silent_p.R162R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	162	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R162S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TAGGTCCAAGGAGCTGTGAAA	0.453													8	25					0	0	0	0	A	133885314	G	A	133885314	2	1	328	1	0	0	0	0	0	0	0	1	15907	1165	41	2		2	TG	8	133885314	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1935931	133885314	12478708	1189	59403											
FAM135B	51059	broad.mit.edu	37	chr8	139160871	139160871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctagtacagttaagtcacTgtacagaaatccttcaatct	14	12	6	9	0	3	1	2	0	1	1	4	1	4	1	1	0	3	4	1	0	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:139160871T>C	ENST00000395297.1	-	14	3510	c.3340A>G	c.(3340-3342)Agt>Ggt	p.S1114G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1114										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTTAAGTCACTGTACAGAAAT	0.368										HNSCC(54;0.14)			20	42					0	0	0	0	C	139160871	T	C	139160871	3	2	328	1	0	0	0	0	1	0	0	0	5490	1580	55	5	908	5	FAM135B	8	139160871	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	5275557	139160871	7203151	1190	59404											
FAM135B	51059	broad.mit.edu	37	chr8	139160925	139160925	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatttttctttggcctgatAaaaactggagaatacactaa	16	13	6	6	0	1	2	0	1	1	1	1	3	1	2	1	2	2	0	1	2	7	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:139160925A>G	ENST00000395297.1	-	14	3456	c.3286T>C	c.(3286-3288)Tat>Cat	p.Y1096H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1096										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGGCCTGATAAAAACTGGAG	0.388										HNSCC(54;0.14)			16	20					0	0	0	0	G	139160925	A	G	139160925	3	3	328	1	0	0	0	0	1	0	0	0	5490	362	13	5	962	5	FAM135B	8	139160925	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	54	139160925	7203097	1191	59405											
COL22A1	169044	broad.mit.edu	37	chr8	139611072	139611072	+	Missense_Mutation	SNP	G	G	A																															tgtgtggcctttgtggcctgGgattccagggtccccaggct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:139611072G>A	ENST00000303045.6	-	61	4701	c.4255C>T	c.(4255-4257)Cca>Tca	p.P1419S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1399S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1419	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGTGGCCTGGGATTCCAGGG	0.592										HNSCC(7;0.00092)			27	47					0	0	0	0	A	139611072	G	A	139611072	3	1	328	1	0	0	0	0	1	0	0	0	3711	1232	43	4	645	4	COL22A1	8	139611072	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	450147	139611072	6752950	1192	59406	580	2									
COL22A1	169044	broad.mit.edu	37	chr8	139611073	139611073	+	Silent	SNP	G	G	A																															gtgtggcctttgtggcctggGattccagggtccccaggctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:139611073G>A	ENST00000303045.6	-	61	4700	c.4254C>T	c.(4252-4254)atC>atT	p.I1418I	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.I1398I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1418	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTGGCCTGGGATTCCAGGGT	0.592										HNSCC(7;0.00092)			26	46					0	0	0	0	A	139611073	G	A	139611073	2	1	328	1	0	0	0	0	0	0	0	1	3711	1164	41	2		2	COL22A1	8	139611073	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	139611073	6752949	1193	59407	580	2									
DENND3	22898	broad.mit.edu	37	chr8	142161893	142161893	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatggcccccacgtcctTcctgatgggctgccatctcg	4	10	10	17	3	2	1	1	1	1	0	5	1	4	1	5	2	1	1	5	2	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:142161893T>A	ENST00000519811.1	+	7	1101	c.1031T>A	c.(1030-1032)tTc>tAc	p.F344Y	DENND3_ENST00000424248.1_Missense_Mutation_p.F264Y|DENND3_ENST00000262585.2_Missense_Mutation_p.F264Y			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	264										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCACGTCCTTCCTGATGGGC	0.557													43	74					0	0	0	0	A	142161893	T	A	142161893	3	1	328	1	0	0	0	0	1	0	0	0	4469	1783	62	5	813	5	DENND3	8	142161893	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	2550820	142161893	4202129	1194	59408											
C8orf31	286122	broad.mit.edu	37	chr8	144124661	144124661	+	Nonsense_Mutation	SNP	G	G	A																															cccttgcagcaagagatctgGgagtccacaacggcacttgt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144124661G>A	ENST00000395172.1	+	3	520	c.168G>A	c.(166-168)tgG>tgA	p.W56*	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	56										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AAGAGATCTGGGAGTCCACAA	0.607													8	13					0	0	0	0	A	144124661	G	A	144124661	4	1	328	1	0	0	0	0	0	1	0	0	2444	1241	43	4	174	4	C8orf31	8	144124661	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1962768	144124661	2239361	1195	59409	581	2									
C8orf31	286122	broad.mit.edu	37	chr8	144124662	144124662	+	Nonsense_Mutation	SNP	G	G	T																															ccttgcagcaagagatctggGagtccacaacggcacttgta																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144124662G>T	ENST00000395172.1	+	3	521	c.169G>T	c.(169-171)Gag>Tag	p.E57*	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	57										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGAGATCTGGGAGTCCACAAC	0.607													8	13					0.00307968	0.00308522	1	0	T	144124662	G	T	144124662	4	4	328	1	0	0	0	0	0	1	0	0	2444	1175	41	2	175	2	C8orf31	8	144124662	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	144124662	2239360	1196	59410	581	2									
ZC3H3	23144	broad.mit.edu	37	chr8	144557717	144557717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggttgggctttcccacccCcgctggcaactggacgcagg	5	7	13	16	3	0	0	0	0	0	0	1	1	1	1	4	5	1	5	4	5	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144557717C>T	ENST00000262577.5	-	5	1785	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	585					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTTCCCACCCCCGCTGGCAAC	0.612													7	12					0	0	0	0	T	144557717	C	T	144557717	3	4	328	1	0	0	0	0	1	0	0	0	17664	623	22	4	1124	4	ZC3H3	8	144557717	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	433055	144557717	1806305	1197	59411											
SCRIB	23513	broad.mit.edu	37	chr8	144887383	144887383	+	Missense_Mutation	SNP	G	G	A																															ggccacgtggcgctgacggaGgggcccggggctctcaggcg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144887383G>A	ENST00000356994.2	-	19	2575	c.2569C>T	c.(2569-2571)Ctc>Ttc	p.L857F	SCRIB_ENST00000377533.3_Missense_Mutation_p.L776F|SCRIB_ENST00000320476.3_Missense_Mutation_p.L857F	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	857	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGCTGACGGAGGGGCCCGGGG	0.721													5	5					0	0	0	0	A	144887383	G	A	144887383	3	1	328	1	0	0	0	0	1	0	0	0	14024	1000	35	4	2474	4	SCRIB	8	144887383	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	329666	144887383	1476639	1198	59412	582	2									
SCRIB	23513	broad.mit.edu	37	chr8	144887384	144887384	+	Silent	SNP	G	G	A																															gccacgtggcgctgacggagGggcccggggctctcaggcgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144887384G>A	ENST00000356994.2	-	19	2574	c.2568C>T	c.(2566-2568)ccC>ccT	p.P856P	SCRIB_ENST00000377533.3_Silent_p.P775P|SCRIB_ENST00000320476.3_Silent_p.P856P	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	856	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTGACGGAGGGGCCCGGGGC	0.716													5	4					0	0	0	0	A	144887384	G	A	144887384	2	1	328	1	0	0	0	0	0	0	0	1	14024	1219	43	4		4	SCRIB	8	144887384	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	144887384	1476638	1199	59413	582	2									
EPPK1	83481	broad.mit.edu	37	chr8	144940490	144940490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgcccggtgtaggggtcgGtgtagccggtgacggcgcgc	3	7	20	11	6	0	1	0	1	0	0	1	1	0	1	2	6	2	3	2	6	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144940490G>A	ENST00000525985.1	-	2	7003	c.6932C>T	c.(6931-6933)aCc>aTc	p.T2311I				P58107	EPIPL_HUMAN	epiplakin 1	2311						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTAGGGGTCGGTGTAGCCGGT	0.697													19	353					0	0	0	0	A	144940490	G	A	144940490	3	1	328	1	0	0	0	0	1	0	0	0	5228	1261	44	4	334	4	EPPK1	8	144940490	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	53106	144940490	1423532	1200	59414											
EPPK1	83481	broad.mit.edu	37	chr8	144942786	144942786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttgtcccctggctcagctCgtccagcgtcttcctgctga	3	12	10	16	3	2	1	1	1	1	0	6	1	5	1	4	1	3	4	4	1	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144942786C>T	ENST00000525985.1	-	2	4707	c.4636G>A	c.(4636-4638)Gag>Aag	p.E1546K				P58107	EPIPL_HUMAN	epiplakin 1	1546						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCTCAGCTCGTCCAGCGTC	0.632													5	6					0	0	0	0	T	144942786	C	T	144942786	3	4	328	1	0	0	0	0	1	0	0	0	5228	893	31	1	2630	1	EPPK1	8	144942786	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2296	144942786	1421236	1201	59415											
PLEC	5339	broad.mit.edu	37	chr8	144991690	144991690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctccatcagctgcaggtagGtgaggttctcctccgtgtta	6	12	12	11	1	2	1	1	1	1	0	5	1	4	1	3	3	2	6	3	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144991690G>A	ENST00000322810.4	-	32	12879	c.12710C>T	c.(12709-12711)aCc>aTc	p.T4237I	PLEC_ENST00000345136.3_Missense_Mutation_p.T4100I|PLEC_ENST00000354958.2_Missense_Mutation_p.T4078I|PLEC_ENST00000357649.2_Missense_Mutation_p.T4104I|PLEC_ENST00000354589.3_Missense_Mutation_p.T4100I|PLEC_ENST00000436759.2_Missense_Mutation_p.T4127I|PLEC_ENST00000356346.3_Missense_Mutation_p.T4086I|PLEC_ENST00000398774.2_Missense_Mutation_p.T4068I|PLEC_ENST00000527096.1_Missense_Mutation_p.T4123I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4237	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCAGGTAGGTGAGGTTCTC	0.587													32	49					0	0	0	0	A	144991690	G	A	144991690	3	1	328	1	0	0	0	0	1	0	0	0	12124	1261	44	4	1348	4	PLEC	8	144991690	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	48904	144991690	1372332	1202	59416											
PLEC	5339	broad.mit.edu	37	chr8	145001681	145001681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgcagccaggcgcccaagGggtctgcactctcgcggtag	6	6	14	15	3	2	0	0	0	2	0	3	0	2	0	3	4	3	3	3	4	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:145001681G>A	ENST00000322810.4	-	27	4233	c.4064C>T	c.(4063-4065)cCc>cTc	p.P1355L	PLEC_ENST00000345136.3_Missense_Mutation_p.P1218L|PLEC_ENST00000354958.2_Missense_Mutation_p.P1196L|PLEC_ENST00000357649.2_Missense_Mutation_p.P1222L|PLEC_ENST00000354589.3_Missense_Mutation_p.P1218L|PLEC_ENST00000436759.2_Missense_Mutation_p.P1245L|PLEC_ENST00000356346.3_Missense_Mutation_p.P1204L|PLEC_ENST00000398774.2_Missense_Mutation_p.P1186L|PLEC_ENST00000527096.1_Missense_Mutation_p.P1241L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1355	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCGCCCAAGGGGTCTGCACT	0.716													11	14					0	0	0	0	A	145001681	G	A	145001681	3	1	328	1	0	0	0	0	1	0	0	0	12124	1232	43	4	10014	4	PLEC	8	145001681	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	9991	145001681	1362341	1203	59417											
GPAA1	8733	broad.mit.edu	37	chr8	145139721	145139721	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccggcctctcccgcttcgtCtccatcggcctctacatgcc	3	10	7	21	4	3	0	0	0	3	0	7	0	3	0	6	2	2	1	6	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:145139721C>T	ENST00000355091.4	+	8	1228	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V	GPAA1_ENST00000361036.6_Silent_p.V309V	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	369					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGCTTCGTCTCCATCGGCC	0.602													48	81					0	0	0	0	T	145139721	C	T	145139721	2	4	328	1	0	0	0	0	0	0	0	1	6636	900	32	2		2	GPAA1	8	145139721	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	138040	145139721	1224301	1204	59418											
HSF1	3297	broad.mit.edu	37	chr8	145535877	145535877	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accgagggccggcctccctcCcccccgcccacctccacccc	4	3	7	27	3	0	0	0	0	0	0	3	1	3	0	12	2	0	0	12	2	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:145535877C>T	ENST00000528838.1	+	9	1249	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	HSF1_ENST00000400780.4_Silent_p.S298S	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	363						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GGCCTCCCTCCCCCCCGCCCA	0.701													8	14					0	0	0	0	T	145535877	C	T	145535877	2	4	328	1	0	0	0	0	0	0	0	1	7445	610	22	4		4	HSF1	8	145535877	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	396156	145535877	828145	1205	59419											
DOCK8	81704	broad.mit.edu	37	chr9	406991	406991	+	Missense_Mutation	SNP	C	C	T																															cagcatgttcgatctgacttCcgagtaccgccagcagcact																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:406991C>T	ENST00000432829.2	+	28	3564	c.3248C>T	c.(3247-3249)tCc>tTc	p.S1083F	DOCK8_ENST00000453981.1_Missense_Mutation_p.S1151F|DOCK8_ENST00000382329.1_Missense_Mutation_p.S618F|DOCK8_ENST00000469391.1_Missense_Mutation_p.S1051F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1151					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GATCTGACTTCCGAGTACCGC	0.522													105	27					0	0	0	0	T	406991	C	T	406991	3	4	328	1	0	0	0	0	1	0	0	0	4729	855	30	2	3562	2	DOCK8	9	406991	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08		406991	140806440	1206	59420	583	2									
DOCK8	81704	broad.mit.edu	37	chr9	406992	406992	+	Silent	SNP	C	C	T																															agcatgttcgatctgacttcCgagtaccgccagcagcactt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:406992C>T	ENST00000432829.2	+	28	3565	c.3249C>T	c.(3247-3249)tcC>tcT	p.S1083S	DOCK8_ENST00000453981.1_Silent_p.S1151S|DOCK8_ENST00000382329.1_Silent_p.S618S|DOCK8_ENST00000469391.1_Silent_p.S1051S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1151					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATCTGACTTCCGAGTACCGCC	0.527													105	26					0	0	0	0	T	406992	C	T	406992	2	4	328	1	0	0	0	0	0	0	0	1	4729	639	23	1		1	DOCK8	9	406992	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	406992	140806439	1207	59421	583	2									
SMARCA2	6595	broad.mit.edu	37	chr9	2039700	2039700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgctggcccgaggccagcCcctccccgaaacgctgcagc	8	4	11	18	3	0	0	0	0	0	0	1	2	1	0	6	2	5	3	6	2	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:2039700C>T	ENST00000382203.1	+	4	799	c.590C>T	c.(589-591)cCc>cTc	p.P197L	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Missense_Mutation_p.P197L|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P197L|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P197L			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	197					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CGAGGCCAGCCCCTCCCCGAA	0.577													42	8					0	0	0	0	T	2039700	C	T	2039700	3	4	328	1	0	0	0	0	1	0	0	0	14857	623	22	4	600	4	SMARCA2	9	2039700	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1632708	2039700	139173731	1208	59422											
INSL6	11172	broad.mit.edu	37	chr9	5164203	5164203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggtgaatatccctttttatCcttatactcaggtagtgact	9	16	8	8	0	1	2	1	2	0	0	3	2	3	2	2	2	1	1	2	2	6	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:5164203C>T	ENST00000381641.3	-	2	417	c.352G>A	c.(352-354)Gat>Aat	p.D118N	INSL6_ENST00000510407.1_5'UTR	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	118						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CCCTTTTTATCCTTATACTCA	0.338													81	18					0	0	0	0	T	5164203	C	T	5164203	3	4	328	1	0	0	0	0	1	0	0	0	7823	855	30	2	293	2	INSL6	9	5164203	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3124503	5164203	136049228	1209	59423											
GLDC	2731	broad.mit.edu	37	chr9	6533116	6533116	+	Silent	SNP	C	C	T																															tctccatatatgtcatcaatCcgggcaatcgttggccagaa																								rs146045718	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:6533116C>T	ENST00000321612.6	-	25	3114	c.2964G>A	c.(2962-2964)cgG>cgA	p.R988R		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	988					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGTCATCAATCCGGGCAATCG	0.458													64	18					0	0	0	0	T	6533116	C	T	6533116	2	4	328	1	0	0	0	0	0	0	0	1	6484	842	30	2		2	GLDC	9	6533116	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1368913	6533116	134680315	1210	59424	584	2									
GLDC	2731	broad.mit.edu	37	chr9	6533117	6533117	+	Missense_Mutation	SNP	C	C	T																															ctccatatatgtcatcaatcCgggcaatcgttggccagaat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:6533117C>T	ENST00000321612.6	-	25	3113	c.2963G>A	c.(2962-2964)cGg>cAg	p.R988Q		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	988					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GTCATCAATCCGGGCAATCGT	0.463													65	18					0	0	0	0	T	6533117	C	T	6533117	3	4	328	1	0	0	0	0	1	0	0	0	6484	652	23	1	103	1	GLDC	9	6533117	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	6533117	134680314	1211	59425	584	2									
TYRP1	7306	broad.mit.edu	37	chr9	12708017	12708017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atatatccacatttccattgGaaaatgcccctattggacat	13	13	5	10	0	0	0	0	0	0	0	2	2	2	2	4	2	1	0	4	2	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:12708017G>A	ENST00000388918.5	+	7	1411	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Missense_Mutation_p.E137K|TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381136.2_Missense_Mutation_p.E138K	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	428					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		ATTTCCATTGGAAAATGCCCC	0.358									Oculocutaneous Albinism				18	9					0	0	0	0	A	12708017	G	A	12708017	3	1	328	1	0	0	0	0	1	0	0	0	16912	1175	41	2	1304	2	TYRP1	9	12708017	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6174900	12708017	128505414	1212	59426											
FREM1	158326	broad.mit.edu	37	chr9	14808111	14808111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtaatggtgtcaaaacaaGgcatcaggccaatctcgcca	14	8	9	10	1	3	0	2	0	1	0	4	0	3	0	2	3	1	2	2	3	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:14808111G>A	ENST00000380881.4	-	18	3733	c.2918C>T	c.(2917-2919)cCt>cTt	p.P973L	FREM1_ENST00000380880.3_Missense_Mutation_p.P972L|FREM1_ENST00000422223.2_Missense_Mutation_p.P972L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	972					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTCAAAACAAGGCATCAGGCC	0.438													35	10					0	0	0	0	A	14808111	G	A	14808111	3	1	328	1	0	0	0	0	1	0	0	0	6092	1000	35	4	3758	4	FREM1	9	14808111	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2100094	14808111	126405320	1213	59427											
FREM1	158326	broad.mit.edu	37	chr9	14868816	14868816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactttgcaggcatctttctCtttagggatggcaaacttca	9	14	8	10	0	3	0	1	0	2	0	4	1	3	1	0	3	2	3	0	3	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:14868816C>T	ENST00000380881.4	-	3	975	c.160G>A	c.(160-162)Gag>Aag	p.E54K	FREM1_ENST00000380880.3_Missense_Mutation_p.E54K|FREM1_ENST00000422223.2_Missense_Mutation_p.E54K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	54					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCATCTTTCTCTTTAGGGATG	0.522													11	2					0	0	0	0	T	14868816	C	T	14868816	3	4	328	1	0	0	0	0	1	0	0	0	6092	922	32	2	6573	2	FREM1	9	14868816	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	60705	14868816	126344615	1214	59428											
TTC39B	158219	broad.mit.edu	37	chr9	15190562	15190562	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagatcttaccaagtattagGgagatgtaagtatgaaaagc	16	10	10	5	0	1	3	0	1	1	2	1	4	1	3	1	1	2	3	1	1	8	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:15190562G>A	ENST00000355694.2	-	11	1131	c.897C>T	c.(895-897)tcC>tcT	p.S299S	TTC39B_ENST00000541445.1_3'UTR|TTC39B_ENST00000507285.1_Silent_p.S200S|TTC39B_ENST00000512701.1_Silent_p.S365S|TTC39B_ENST00000507993.1_Silent_p.S200S|TTC39B_ENST00000380850.4_Silent_p.S365S|TTC39B_ENST00000297615.5_Silent_p.S296S	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	299							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CAAGTATTAGGGAGATGTAAG	0.453													19	11					0	0	0	0	A	15190562	G	A	15190562	2	1	328	1	0	0	0	0	0	0	0	1	16804	1219	43	4		4	TTC39B	9	15190562	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	321746	15190562	126022869	1215	59429											
DENND4C	55667	broad.mit.edu	37	chr9	19358055	19358055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgaaatgtgtctttgactcGaagtcacagtgttggaggcc	9	11	13	8	2	2	1	1	1	1	0	3	4	2	2	1	2	0	1	1	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:19358055G>A	ENST00000307015.9	+	24	4373	c.2621G>A	c.(2620-2622)cGa>cAa	p.R874Q	DENND4C_ENST00000602925.1_Missense_Mutation_p.R1637Q|DENND4C_ENST00000540671.1_Missense_Mutation_p.R731Q|DENND4C_ENST00000380432.2_Missense_Mutation_p.R1401Q|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1686Q			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1401						integral to membrane		p.R1401L(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCTTTGACTCGAAGTCACAGT	0.398													32	16					0	0	0	0	A	19358055	G	A	19358055	3	1	328	1	0	0	0	0	1	0	0	0	4472	1058	37	1	4292	1	DENND4C	9	19358055	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4167493	19358055	121855376	1216	59430											
CDKN2A	1029	broad.mit.edu	37	chr9	21971096	21971096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcgtgtccaggaagccctCccgggcagcgtcgtgcacgg	6	5	15	15	5	0	0	0	0	0	0	3	1	2	1	3	3	4	2	3	3	1	0	rs121913384		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:21971096C>T	ENST00000579755.1	-	2	597	c.305G>A	c.(304-306)gGa>gAa	p.G102E	CDKN2A_ENST00000498124.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E88K|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102E|CDKN2A_ENST00000304494.5_Missense_Mutation_p.E88K|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143E|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E37K			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			12	4					0	0	0	0	T	21971096	C	T	21971096	3	4	328	1	0	0	0	0	1	0	0	0	3190	864	30	2	216	2	CDKN2A	9	21971096	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2613041	21971096	119242335	1217	59431											
TAF1L	138474	broad.mit.edu	37	chr9	32633160	32633160	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggaacttcaaacaaGggacactgctggccaaccac	13	4	10	14	0	1	0	1	0	0	0	1	2	1	2	3	4	4	1	3	4	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:32633160G>A	ENST00000242310.4	-	1	2507	c.2418C>T	c.(2416-2418)ccC>ccT	p.P806P		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	806					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTTCAAACAAGGGACACTGCT	0.413													58	25					0	0	0	0	A	32633160	G	A	32633160	2	1	328	1	0	0	0	0	0	0	0	1	15614	987	35	4		4	TAF1L	9	32633160	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	10662064	32633160	108580271	1218	59432											
TLN1	7094	broad.mit.edu	37	chr9	35711042	35711042	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggtgcctgctgggtgcAcatagtgatgagctgattga	7	10	16	8	1	0	4	0	4	0	0	0	4	0	4	2	2	4	3	2	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:35711042A>C	ENST00000314888.9	-	31	4410	c.4057T>G	c.(4057-4059)Tgc>Ggc	p.C1353G	TLN1_ENST00000540444.1_Missense_Mutation_p.C1353G	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1353	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTGGGTGCACATAGTGATG	0.517													23	21					0	0	0	0	C	35711042	A	C	35711042	3	2	328	1	0	0	0	0	1	0	0	0	16041	159	6	5	3676	5	TLN1	9	35711042	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	3077882	35711042	105502389	1219	59433											
NPR2	4882	broad.mit.edu	37	chr9	35800799	35800799	+	Missense_Mutation	SNP	C	C	T																															ctcctccctcggacaatcccCcctgtgcctttgacttggac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:35800799C>T	ENST00000342694.2	+	6	1567	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	438					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGACAATCCCCCCTGTGCCTT	0.582													29	17					0	0	0	0	T	35800799	C	T	35800799	3	4	328	1	0	0	0	0	1	0	0	0	10666	623	22	4	1334	4	NPR2	9	35800799	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	89757	35800799	105412632	1220	59434	585	2									
NPR2	4882	broad.mit.edu	37	chr9	35800800	35800800	+	Missense_Mutation	SNP	C	C	T																															tcctccctcggacaatccccCctgtgcctttgacttggacg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:35800800C>T	ENST00000342694.2	+	6	1568	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	438					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GACAATCCCCCCTGTGCCTTT	0.582													29	17					0	0	0	0	T	35800800	C	T	35800800	3	4	328	1	0	0	0	0	1	0	0	0	10666	623	22	4	1335	4	NPR2	9	35800800	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	35800800	105412631	1221	59435	585	2									
TJP2	9414	broad.mit.edu	37	chr9	71869364	71869364	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccaggccgccgggatGgttcttctccagttagaatg	6	11	12	12	2	2	1	0	0	2	1	4	2	3	2	5	3	1	2	5	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:71869364G>A	ENST00000600472.1	-	1	278	c.279C>T	c.(277-279)acC>acT	p.T93T	TJP2_ENST00000348208.4_3'UTR|TJP2_ENST00000377245.4_3'UTR|TJP2_ENST00000535702.1_3'UTR|TJP2_ENST00000453658.2_3'UTR|TJP2_ENST00000539225.1_3'UTR																							CCGCCGGGATGGTTCTTCTCC	0.577													9	1					0	0	0	0	A	71869364	G	A	71869364	2	1	328	1	0	0	0	0	0	0	0	1	16024	1363	47	4		4	TJP2	9	71869364	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	36068564	71869364	69344067	1222	59436											
TRPM3	80036	broad.mit.edu	37	chr9	73235150	73235150	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatcttctgccgcttcatGagaacagcccacaccatgag	10	8	8	15	1	3	2	1	2	2	1	3	3	3	2	4	0	3	1	4	0	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:73235150G>A	ENST00000377110.2	-	15	2178	c.1935C>T	c.(1933-1935)ctC>ctT	p.L645L	TRPM3_ENST00000360823.2_Silent_p.L507L|TRPM3_ENST00000396292.4_Silent_p.L517L|TRPM3_ENST00000396280.5_Silent_p.L494L|TRPM3_ENST00000357533.2_Silent_p.L649L|TRPM3_ENST00000396285.1_Silent_p.L492L|TRPM3_ENST00000377111.2_Silent_p.L645L|TRPM3_ENST00000358082.3_Silent_p.L507L|TRPM3_ENST00000377106.1_Silent_p.L517L|TRPM3_ENST00000377105.1_Silent_p.L504L|TRPM3_ENST00000408909.2_Silent_p.L504L|TRPM3_ENST00000423814.3_Silent_p.L672L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	670						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCCGCTTCATGAGAACAGCCC	0.552													59	17					0	0	0	0	A	73235150	G	A	73235150	2	1	328	1	0	0	0	0	0	0	0	1	16682	1277	45	2		2	TRPM3	9	73235150	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1365786	73235150	67978281	1223	59437											
TRPM6	140803	broad.mit.edu	37	chr9	77416931	77416931	+	Missense_Mutation	SNP	C	C	T																															ctttaaccgtggcctcctctCcatgctgccagaagaacata																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:77416931C>T	ENST00000451710.3	-	16	2129	c.1892G>A	c.(1891-1893)gGa>gAa	p.G631E	TRPM6_ENST00000449912.2_Missense_Mutation_p.G626E|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.G631E|TRPM6_ENST00000361255.3_Missense_Mutation_p.G626E|TRPM6_ENST00000360774.1_Missense_Mutation_p.G631E|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	631					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						GGCCTCCTCTCCATGCTGCCA	0.517													34	13					0	0	0	0	T	77416931	C	T	77416931	3	4	328	1	0	0	0	0	1	0	0	0	16685	855	30	2	4272	2	TRPM6	9	77416931	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4181781	77416931	63796500	1224	59438	586	2									
TRPM6	140803	broad.mit.edu	37	chr9	77416932	77416932	+	Missense_Mutation	SNP	C	C	T																															tttaaccgtggcctcctctcCatgctgccagaagaacatag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:77416932C>T	ENST00000451710.3	-	16	2128	c.1891G>A	c.(1891-1893)Gga>Aga	p.G631R	TRPM6_ENST00000449912.2_Missense_Mutation_p.G626R|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.G631R|TRPM6_ENST00000361255.3_Missense_Mutation_p.G626R|TRPM6_ENST00000360774.1_Missense_Mutation_p.G631R|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	631					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						GCCTCCTCTCCATGCTGCCAG	0.512													34	12					0	0	0	0	T	77416932	C	T	77416932	3	4	328	1	0	0	0	0	1	0	0	0	16685	603	21	4	4273	4	TRPM6	9	77416932	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	77416932	63796499	1225	59439	586	2									
C9orf41	138199	broad.mit.edu	37	chr9	77631274	77631274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccagtttcactccagtctCtcacaaactgtttcagcgtg	8	13	6	14	1	4	0	3	0	1	0	7	0	6	0	2	0	2	2	2	0	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:77631274C>T	ENST00000376834.3	-	3	652	c.500G>A	c.(499-501)aGa>aAa	p.R167K	C9orf41_ENST00000376837.3_Missense_Mutation_p.R167K	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	167										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						ACTCCAGTCTCTCACAAACTG	0.358													93	32					0	0	0	0	T	77631274	C	T	77631274	3	4	328	1	0	0	0	0	1	0	0	0	2507	913	32	2	753	2	C9orf41	9	77631274	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	214342	77631274	63582157	1226	59440											
RASEF	158158	broad.mit.edu	37	chr9	85627420	85627420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttacgcgttttgattgttCttcgagctgaaagaccaaat	11	14	8	8	3	1	3	0	2	1	1	2	4	1	3	1	0	2	3	1	0	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:85627420C>T	ENST00000376447.3	-	5	1032	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	258					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTGATTGTTCTTCGAGCTGA	0.318													13	2					0	0	0	0	T	85627420	C	T	85627420	3	4	328	1	0	0	0	0	1	0	0	0	13150	922	32	2	1502	2	RASEF	9	85627420	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7996146	85627420	55586011	1227	59441											
DIRAS2	54769	broad.mit.edu	37	chr9	93375924	93375924	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaactggtggctccccgtCgtgtcggtgatctgcaatgt	5	11	15	10	3	1	1	0	1	1	0	4	2	2	2	2	4	2	2	2	4	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:93375924C>T	ENST00000375765.3	-	2	574	c.186G>A	c.(184-186)acG>acA	p.T62T		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	62					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						GGCTCCCCGTCGTGTCGGTGA	0.582													75	27					0	0	0	0	T	93375924	C	T	93375924	2	4	328	1	0	0	0	0	0	0	0	1	4568	871	31	1		1	DIRAS2	9	93375924	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7748504	93375924	47837507	1228	59442											
AUH	549	broad.mit.edu	37	chr9	93983201	93983201	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctttggcttctttgccatcGaggactcgcgcagagaatat	8	12	11	10	3	1	1	0	0	1	1	3	4	1	2	1	2	1	3	1	2	2	4	rs146636009		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:93983201G>A	ENST00000375731.4	-	7	752	c.729C>T	c.(727-729)ctC>ctT	p.L243L	AUH_ENST00000303617.5_Silent_p.L214L	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	243					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CTTTGCCATCGAGGACTCGCG	0.582													60	35					0	0	0	0	A	93983201	G	A	93983201	2	1	328	1	0	0	0	0	0	0	0	1	1223	1045	37	1		1	AUH	9	93983201	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	607277	93983201	47230230	1229	59443											
WNK2	65268	broad.mit.edu	37	chr9	96019254	96019254	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgctggcccagccgacaCccctgccgcaggtcctggcc	4	5	11	21	3	0	0	0	0	0	0	2	1	2	0	8	3	2	2	8	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:96019254C>G	ENST00000297954.4	+	10	2215	c.2215C>G	c.(2215-2217)Ccc>Gcc	p.P739A	WNK2_ENST00000349097.3_Missense_Mutation_p.P351A|WNK2_ENST00000395475.2_Missense_Mutation_p.P673A|WNK2_ENST00000395477.2_Missense_Mutation_p.P739A|WNK2_ENST00000427277.2_Missense_Mutation_p.P351A|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	739					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCAGCCGACACCCCTGCCGCA	0.687													6	2					0	0	0	0	G	96019254	C	G	96019254	3	3	328	1	0	0	0	0	1	0	0	0	17474	507	18	4	2253	4	WNK2	9	96019254	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2036053	96019254	45194177	1230	59444											
WNK2	65268	broad.mit.edu	37	chr9	96055202	96055202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggccctcgggcgagacccCcggtgcagaagcaggcgtcc	7	3	16	15	4	0	2	0	0	0	2	2	3	1	2	4	4	2	2	4	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:96055202C>T	ENST00000297954.4	+	23	5566	c.5566C>T	c.(5566-5568)Ccg>Tcg	p.P1856S	WNK2_ENST00000349097.3_Missense_Mutation_p.P1468S|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.P1819S|WNK2_ENST00000427277.2_Missense_Mutation_p.P1431S|WNK2_ENST00000356055.3_Missense_Mutation_p.P183S			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1856					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGCGAGACCCCCGGTGCAGAA	0.726													13	2					0	0	0	0	T	96055202	C	T	96055202	3	4	328	1	0	0	0	0	1	0	0	0	17474	623	22	4	5541	4	WNK2	9	96055202	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	35948	96055202	45158229	1231	59445											
COL15A1	1306	broad.mit.edu	37	chr9	101782716	101782716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggacaggctgggcccaaaGgagaaaaggtttgtgctgtg	12	7	16	6	0	0	1	0	0	0	1	0	3	0	2	1	5	1	3	1	5	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:101782716G>A	ENST00000375001.3	+	12	2116	c.1693G>A	c.(1693-1695)Gga>Aga	p.G565R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	565	Triple-helical region 1 (COL1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGGGCCCAAAGGAGAAAAGGT	0.453													18	16					0	0	0	0	A	101782716	G	A	101782716	3	1	328	1	0	0	0	0	1	0	0	0	3702	1001	35	4	1739	4	COL15A1	9	101782716	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5727514	101782716	39430715	1232	59446											
COL15A1	1306	broad.mit.edu	37	chr9	101807031	101807031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttagggtgaacctggaatGcatggagccccaggaccaat	11	9	12	9	0	0	1	0	1	0	0	0	4	0	4	4	4	3	1	4	4	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:101807031G>T	ENST00000375001.3	+	26	3081	c.2658G>T	c.(2656-2658)atG>atT	p.M886I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	886	Triple-helical region 5 (COL5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AACCTGGAATGCATGGAGCCC	0.463													38	9					1.15505e-17	1.17689e-17	1	0	T	101807031	G	T	101807031	3	4	328	1	0	0	0	0	1	0	0	0	3702	1319	46	4	2760	4	COL15A1	9	101807031	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	24315	101807031	39406400	1233	59447											
TGFBR1	7046	broad.mit.edu	37	chr9	101900209	101900209	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaagcattggcaaaggtCgatttggagaagtttggaga	15	9	14	3	1	0	3	0	0	0	3	1	6	0	3	0	4	1	3	0	4	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:101900209C>T	ENST00000374994.4	+	4	760	c.643C>T	c.(643-645)Cga>Tga	p.R215*	TGFBR1_ENST00000374990.2_Nonsense_Mutation_p.R138*|TGFBR1_ENST00000550253.1_Nonsense_Mutation_p.R146*|TGFBR1_ENST00000552516.1_Nonsense_Mutation_p.R219*	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	215	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGGCAAAGGTCGATTTGGAGA	0.408													30	10					0	0	0	0	T	101900209	C	T	101900209	4	4	328	1	0	0	0	0	0	1	0	0	15915	876	31	1	657	1	TGFBR1	9	101900209	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	93178	101900209	39313222	1234	59448											
ZNF189	7743	broad.mit.edu	37	chr9	104171026	104171026	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaatgtgggaaagcctttCgattaagcacataccttata	13	12	9	7	1	0	1	0	1	0	0	1	3	0	2	2	1	3	1	2	1	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:104171026C>T	ENST00000374861.3	+	3	1218	c.934C>T	c.(934-936)Cga>Tga	p.R312*	ZNF189_ENST00000339664.2_Nonsense_Mutation_p.R326*|ZNF189_ENST00000259395.4_Nonsense_Mutation_p.R284*	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	326					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAAAGCCTTTCGATTAAGCAC	0.398													86	18					0	0	0	0	T	104171026	C	T	104171026	4	4	328	1	0	0	0	0	0	1	0	0	17849	876	31	1	986	1	ZNF189	9	104171026	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2270817	104171026	37042405	1235	59449											
GRIN3A	116443	broad.mit.edu	37	chr9	104449125	104449125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaatctcccagcacccaacGaagttcagggggcatgaccc	11	5	11	14	1	2	1	1	1	1	0	3	3	2	2	3	3	2	3	3	3	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:104449125G>A	ENST00000361820.3	-	2	1657	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	353					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGCACCCAACGAAGTTCAGGG	0.512													26	6					0	0	0	0	A	104449125	G	A	104449125	3	1	328	1	0	0	0	0	1	0	0	0	6833	1058	37	1	2322	1	GRIN3A	9	104449125	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	278099	104449125	36764306	1236	59450											
SMC2	10592	broad.mit.edu	37	chr9	106891979	106891979	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcagagagacacctcttTggccaacccaatagtgccta	13	8	8	12	0	1	2	0	0	1	2	1	3	1	2	4	1	3	1	4	1	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:106891979T>C	ENST00000286398.7	+	21	3132	c.2844T>C	c.(2842-2844)ttT>ttC	p.F948F	SMC2_ENST00000303219.8_Silent_p.F948F|SMC2_ENST00000374793.3_Silent_p.F948F|SMC2_ENST00000374787.3_Silent_p.F948F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	948					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GACACCTCTTTGGCCAACCCA	0.373													84	22					0	0	0	0	C	106891979	T	C	106891979	2	2	328	1	0	0	0	0	0	0	0	1	14871	1809	63	5		5	SMC2	9	106891979	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	2442854	106891979	34321452	1237	59451											
OR13F1	138805	broad.mit.edu	37	chr9	107266939	107266939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctgcaaccccctgagataCcctgtcatcatgaataggag	12	9	8	12	0	3	2	2	2	1	1	3	4	3	3	3	1	3	1	3	1	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:107266939C>T	ENST00000334726.2	+	1	485	c.396C>T	c.(394-396)taC>taT	p.Y132Y		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCCTGAGATACCCTGTCATCA	0.547													40	11					0	0	0	0	T	107266939	C	T	107266939	2	4	328	1	0	0	0	0	0	0	0	1	11012	518	18	4		4	OR13F1	9	107266939	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	374960	107266939	33946492	1238	59452											
SVEP1	79987	broad.mit.edu	37	chr9	113168896	113168896	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggtgagctgccactcCaggagccattggagaggcac	11	5	15	10	0	0	2	0	1	0	1	1	5	1	4	3	5	3	2	3	5	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:113168896C>T	ENST00000401783.2	-	38	9320	c.8984G>A	c.(8983-8985)tGg>tAg	p.W2995*	SVEP1_ENST00000297826.5_Nonsense_Mutation_p.W921*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.W2972*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2995	Sushi 26.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTGCCACTCCAGGAGCCATT	0.473													25	17					0	0	0	0	T	113168896	C	T	113168896	4	4	328	1	0	0	0	0	0	1	0	0	15510	595	21	4	1775	4	SVEP1	9	113168896	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5901957	113168896	28044535	1239	59453											
SVEP1	79987	broad.mit.edu	37	chr9	113173407	113173407	+	Missense_Mutation	SNP	G	G	A																															ccgggtggcacgtcggtataGgactactccactgccctgtg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:113173407G>A	ENST00000401783.2	-	37	6920	c.6584C>T	c.(6583-6585)cCt>cTt	p.P2195L	SVEP1_ENST00000297826.5_Missense_Mutation_p.P121L|SVEP1_ENST00000374469.1_Missense_Mutation_p.P2172L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2195	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CGTCGGTATAGGACTACTCCA	0.502													29	22					0	0	0	0	A	113173407	G	A	113173407	3	1	328	1	0	0	0	0	1	0	0	0	15510	1000	35	4	4179	4	SVEP1	9	113173407	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4511	113173407	28040024	1240	59454	587	2									
SVEP1	79987	broad.mit.edu	37	chr9	113173408	113173408	+	Missense_Mutation	SNP	G	G	A																															cgggtggcacgtcggtatagGactactccactgccctgtgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:113173408G>A	ENST00000401783.2	-	37	6919	c.6583C>T	c.(6583-6585)Cct>Tct	p.P2195S	SVEP1_ENST00000297826.5_Missense_Mutation_p.P121S|SVEP1_ENST00000374469.1_Missense_Mutation_p.P2172S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2195	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTCGGTATAGGACTACTCCAC	0.502													29	23					0	0	0	0	A	113173408	G	A	113173408	3	1	328	1	0	0	0	0	1	0	0	0	15510	1174	41	2	4180	2	SVEP1	9	113173408	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	113173408	28040023	1241	59455	587	2									
ZNF883	169834	broad.mit.edu	37	chr9	115760001	115760001	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacattgcttacactggtagGatttttcctcagaatgaatt	11	15	8	7	0	1	2	1	1	0	1	2	4	2	3	1	2	2	2	1	2	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:115760001G>A	ENST00000427548.1	-	0	1812							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ACACTGGTAGGATTTTTCCTC	0.403													31	9					0	0	0	0	A	115760001	G	A	115760001	1	1	328	0	1	0	0	0	0	0	0	0	18291	1174	41	2		2	ZNF883	9	115760001	RNA	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2586593	115760001	25453430	1242	59456											
ZNF883	169834	broad.mit.edu	37	chr9	115760065	115760065	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcggctgaaggtttttcCacattcagtacattcatatg	9	14	9	9	1	2	1	2	1	0	0	3	1	3	1	1	2	2	4	1	2	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:115760065C>T	ENST00000427548.1	-	0	1748							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AAGGTTTTTCCACATTCAGTA	0.398													30	8					0	0	0	0	T	115760065	C	T	115760065	1	4	328	0	1	0	0	0	0	0	0	0	18291	603	21	4		4	ZNF883	9	115760065	RNA	SNP	C	TCGA-CV-7568-01A-11D-2229-08	64	115760065	25453366	1243	59457											
COL27A1	85301	broad.mit.edu	37	chr9	116930839	116930839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccagtaacgcacttgatcCcatgctcccagcctctgttg	8	10	8	15	1	1	1	0	1	1	0	3	1	3	1	4	0	4	4	4	0	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:116930839C>T	ENST00000356083.3	+	3	1395	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	335	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCACTTGATCCCATGCTCCCA	0.607													31	10					0	0	0	0	T	116930839	C	T	116930839	3	4	328	1	0	0	0	0	1	0	0	0	3715	623	22	4	1014	4	COL27A1	9	116930839	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1170774	116930839	24282592	1244	59458											
C5	727	broad.mit.edu	37	chr9	123797116	123797116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttgaagtcaggaaaagaGataattccaatatgatcaat	18	11	7	5	0	3	3	2	2	1	1	4	5	4	4	1	1	0	0	1	1	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:123797116G>A	ENST00000223642.1	-	5	578	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	183					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CAGGAAAAGAGATAATTCCAA	0.353													14	6					0	0	0	0	A	123797116	G	A	123797116	2	1	328	1	0	0	0	0	0	0	0	1	2301	932	33	2		2	C5	9	123797116	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6866277	123797116	17416315	1245	59459											
PDCL	5082	broad.mit.edu	37	chr9	125588973	125588973	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctggggcacatctgcctcGgtccttgtcctcgtggtcac	3	11	13	14	2	2	0	1	0	1	0	6	0	4	0	3	5	1	2	3	5	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:125588973G>A	ENST00000259467.4	-	2	259	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	32					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						CATCTGCCTCGGTCCTTGTCC	0.552													47	17					0	0	0	0	A	125588973	G	A	125588973	4	1	328	1	0	0	0	0	0	1	0	0	11697	1124	39	1	823	1	PDCL	9	125588973	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1791857	125588973	15624458	1246	59460											
CRB2	286204	broad.mit.edu	37	chr9	126137568	126137568	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgccgggcagctggaggGgtgtctgaatgtatctgcaa	8	9	15	9	1	2	1	0	1	2	0	2	2	2	2	2	4	3	4	2	4	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:126137568G>A	ENST00000373631.3	+	12	3580	c.3579G>A	c.(3577-3579)ggG>ggA	p.G1193G	CRB2_ENST00000373629.2_Silent_p.G861G	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	1193	EGF-like 15.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CAGCTGGAGGGGTGTCTGAAT	0.637													23	11					0	0	0	0	A	126137568	G	A	126137568	2	1	328	1	0	0	0	0	0	0	0	1	3879	1219	43	4		4	CRB2	9	126137568	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	548595	126137568	15075863	1247	59461											
GAPVD1	26130	broad.mit.edu	37	chr9	128124962	128124962	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtctggagaggagtcCtattggtggatgcagttcac	7	13	14	7	0	3	1	1	0	2	1	4	4	4	3	1	4	1	2	1	4	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:128124962C>T	ENST00000470056.1	+	25	4399	c.4239C>T	c.(4237-4239)tcC>tcT	p.S1413S	GAPVD1_ENST00000394105.2_Silent_p.S1467S|GAPVD1_ENST00000394104.2_Silent_p.S1458S|GAPVD1_ENST00000394083.2_Silent_p.S1392S|GAPVD1_ENST00000297933.6_Silent_p.S1440S|GAPVD1_ENST00000312123.9_Silent_p.S1419S|GAPVD1_ENST00000495955.1_Silent_p.S1458S|GAPVD1_ENST00000265956.4_Silent_p.S1432S			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1458	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAGAGGAGTCCTATTGGTGGA	0.438													55	33					0	0	0	0	T	128124962	C	T	128124962	2	4	328	1	0	0	0	0	0	0	0	1	6288	668	24	4		4	GAPVD1	9	128124962	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1987394	128124962	13088469	1248	59462											
SLC27A4	10999	broad.mit.edu	37	chr9	131117375	131117375	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcatcatccagaaagacccCctgcgccgcttcgatggcta	9	7	9	16	4	1	2	1	0	0	2	3	3	2	2	4	1	1	3	4	1	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:131117375C>T	ENST00000300456.3	+	10	1485	c.1368C>T	c.(1366-1368)ccC>ccT	p.P456P	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	456					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						AGAAAGACCCCCTGCGCCGCT	0.627													18	5					0	0	0	0	T	131117375	C	T	131117375	2	4	328	1	0	0	0	0	0	0	0	1	14616	610	22	4		4	SLC27A4	9	131117375	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2992413	131117375	10096056	1249	59463											
CERCAM	51148	broad.mit.edu	37	chr9	131191230	131191230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttgtcatcagcctggctCgcaggcctgaccgtcgggaa	6	10	12	13	3	3	1	2	1	1	0	5	2	3	2	3	3	1	2	3	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:131191230C>T	ENST00000372842.1	+	9	3895	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	CERCAM_ENST00000372838.4_Missense_Mutation_p.R329C			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	329					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CAGCCTGGCTCGCAGGCCTGA	0.652													9	2					0	0	0	0	T	131191230	C	T	131191230	3	4	328	1	0	0	0	0	1	0	0	0	3295	884	31	1	1015	1	CERCAM	9	131191230	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	73855	131191230	10022201	1250	59464											
SPTAN1	6709	broad.mit.edu	37	chr9	131362396	131362396	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagcctccccgtggaaggTaagaactcctttgcaaatta	12	9	9	11	1	0	1	0	0	0	1	2	3	2	2	4	2	3	2	4	2	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:131362396T>G	ENST00000372739.3	+	27	3689		c.e27+2		SPTAN1_ENST00000358161.5_Splice_Site|SPTAN1_ENST00000372731.4_Splice_Site	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1						actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCGTGGAAGGTAAGAACTCCT	0.403													37	14					0	0	0	0	G	131362396	T	G	131362396	5	3	328	1	0	0	0	0	0	0	1	0	15207	1652	57	5	3683	5	SPTAN1	9	131362396	Splice_Site	SNP	T	TCGA-CV-7568-01A-11D-2229-08	171166	131362396	9851035	1251	59465											
NUP188	23511	broad.mit.edu	37	chr9	131719260	131719260	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaacagagtgtgcagttActccagtgttacctgcaaga	13	9	11	8	0	0	3	0	0	0	3	1	4	1	3	2	0	5	4	2	0	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:131719260A>T	ENST00000372577.2	+	5	297	c.276A>T	c.(274-276)ttA>ttT	p.L92F	RP11-101E3.5_ENST00000482796.1_Missense_Mutation_p.113_113insF|NUP188_ENST00000550219.1_3'UTR	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	92					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGTGCAGTTACTCCAGTGTT	0.428													46	24					0	0	0	0	T	131719260	A	T	131719260	3	4	328	1	0	0	0	0	1	0	0	0	10829	388	14	5	294	5	NUP188	9	131719260	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	356864	131719260	9494171	1252	59466											
PPP2R4	5524	broad.mit.edu	37	chr9	131899914	131899914	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttgtggatgagaaggcCgtgaatgagaaccacaagga	14	7	13	7	1	0	3	0	3	0	2	0	7	0	5	2	3	1	0	2	3	4	1	rs150647017	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:131899914C>T	ENST00000337738.1	+	9	1101	c.834C>T	c.(832-834)gcC>gcT	p.A278A	PPP2R4_ENST00000452489.2_Silent_p.A278A|PPP2R4_ENST00000357197.4_Silent_p.A214A|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000358994.4_Silent_p.A243A|PPP2R4_ENST00000393370.2_Silent_p.A243A|PPP2R4_ENST00000348141.5_Silent_p.A249A|PPP2R4_ENST00000355007.3_Silent_p.A201A	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	278					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		ATGAGAAGGCCGTGAATGAGA	0.557													12	4					0	0	0	0	T	131899914	C	T	131899914	2	4	328	1	0	0	0	0	0	0	0	1	12467	639	23	1		1	PPP2R4	9	131899914	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	180654	131899914	9313517	1253	59467											
FNBP1	23048	broad.mit.edu	37	chr9	132689581	132689581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atatgtcttcatggactctcCcattctcacaatcctccttt	8	16	3	14	0	4	0	2	0	3	0	8	1	6	1	3	1	0	0	3	1	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:132689581C>T	ENST00000420781.1	-	8	900	c.682G>A	c.(682-684)Gga>Aga	p.G228R	FNBP1_ENST00000355681.3_Missense_Mutation_p.G228R|FNBP1_ENST00000446176.2_Missense_Mutation_p.G228R			Q96RU3	FNBP1_HUMAN	formin binding protein 1	228	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		ATGGACTCTCCCATTCTCACA	0.383			T	MLL	AML								98	48					0	0	0	0	T	132689581	C	T	132689581	3	4	328	1	0	0	0	0	1	0	0	0	6010	632	22	4	1211	4	FNBP1	9	132689581	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	789667	132689581	8523850	1254	59468											
GPR107	57720	broad.mit.edu	37	chr9	132891023	132891023	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctcaggaagaagaagaCttggaaatggagtccgtgta	13	10	12	6	1	1	3	1	0	1	3	3	6	2	6	1	3	0	1	1	3	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:132891023C>T	ENST00000372406.1	+	19	2196	c.1689C>T	c.(1687-1689)gaC>gaT	p.D563D	GPR107_ENST00000347136.6_Silent_p.D515D|GPR107_ENST00000372410.3_Silent_p.D534D	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	563						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AAGAAGAAGACTTGGAAATGG	0.483													80	27					0	0	0	0	T	132891023	C	T	132891023	2	4	328	1	0	0	0	0	0	0	0	1	6672	564	20	4		4	GPR107	9	132891023	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	201442	132891023	8322408	1255	59469											
FAM78A	286336	broad.mit.edu	37	chr9	134136313	134136313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgaccagggcgctgggcgGgatgggctcattcttgctca	5	10	15	11	2	3	1	2	1	1	0	3	2	3	2	1	4	1	3	1	4	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:134136313G>A	ENST00000372271.3	-	2	1115	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	FAM78A_ENST00000372269.3_Missense_Mutation_p.P247S|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	250										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GCGCTGGGCGGGATGGGCTCA	0.687													92	20					0	0	0	0	A	134136313	G	A	134136313	3	1	328	1	0	0	0	0	1	0	0	0	5672	1232	43	4	107	4	FAM78A	9	134136313	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1245290	134136313	7077118	1256	59470											
COL5A1	1289	broad.mit.edu	37	chr9	137677851	137677851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttcccccagggaaaactcgGagtcccagggttaccagggt	9	7	12	13	1	0	0	0	0	0	0	3	2	2	2	4	4	2	1	4	4	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:137677851G>A	ENST00000371817.3	+	31	3017	c.2603G>A	c.(2602-2604)gGa>gAa	p.G868E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	868	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGAAAACTCGGAGTCCCAGGG	0.567													14	5					0	0	0	0	A	137677851	G	A	137677851	3	1	328	1	0	0	0	0	1	0	0	0	3726	1174	41	2	2725	2	COL5A1	9	137677851	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3541538	137677851	3535580	1257	59471											
NOTCH1	4851	broad.mit.edu	37	chr9	139411742	139411742	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccgtggggcactcgcactGgaactcattgatcttgtcca	8	10	10	13	2	2	1	1	1	1	0	4	2	3	2	2	3	1	2	2	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:139411742G>A	ENST00000277541.6	-	9	1612	c.1537C>T	c.(1537-1539)Cag>Tag	p.Q513*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	513	EGF-like 13; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCACTGGAACTCATTG	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			12	2					0	0	0	0	A	139411742	G	A	139411742	4	1	328	1	0	0	0	0	0	1	0	0	10617	1357	47	4	6234	4	NOTCH1	9	139411742	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1733891	139411742	1801689	1258	59472											
GRIN1	2902	broad.mit.edu	37	chr9	140056969	140056969	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caactccggcatcggggaagGtaaggccccgcccggcccgc	7	3	14	17	5	0	0	0	0	0	0	2	1	1	1	5	6	1	2	5	6	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:140056969G>A	ENST00000371561.3	+	13	2961		c.e13+1		GRIN1_ENST00000371550.4_Splice_Site|GRIN1_ENST00000371553.3_Splice_Site|GRIN1_ENST00000350902.5_Splice_Site|GRIN1_ENST00000371546.4_Splice_Site|GRIN1_ENST00000371559.4_Splice_Site|GRIN1_ENST00000371555.4_Splice_Site|GRIN1_ENST00000371560.3_Splice_Site|GRIN1_ENST00000471122.1_Splice_Site|GRIN1_ENST00000315048.3_Splice_Site	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1						ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ATCGGGGAAGGTAAGGCCCCG	0.697													13	1					0	0	0	0	A	140056969	G	A	140056969	5	1	328	1	0	0	0	0	0	0	1	0	6828	1275	44	4	1982	4	GRIN1	9	140056969	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	645227	140056969	1156462	1259	59473											
PNPLA7	375775	broad.mit.edu	37	chr9	140391670	140391670	+	Missense_Mutation	SNP	C	C	T																															ggtctcctcggccgtactccCcggccaggcgcttcttccca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:140391670C>T	ENST00000406427.1	-	18	2318	c.1982G>A	c.(1981-1983)gGg>gAg	p.G661E	PNPLA7_ENST00000371457.1_Missense_Mutation_p.G242E|PNPLA7_ENST00000277531.4_Missense_Mutation_p.G636E	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	636					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCGTACTCCCCGGCCAGGCG	0.667													8	7					0	0	0	0	T	140391670	C	T	140391670	3	4	328	1	0	0	0	0	1	0	0	0	12242	623	22	4	2118	4	PNPLA7	9	140391670	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	334701	140391670	821761	1260	59474	588	2									
PNPLA7	375775	broad.mit.edu	37	chr9	140391671	140391671	+	Missense_Mutation	SNP	C	C	T																															gtctcctcggccgtactcccCggccaggcgcttcttcccat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:140391671C>T	ENST00000406427.1	-	18	2317	c.1981G>A	c.(1981-1983)Ggg>Agg	p.G661R	PNPLA7_ENST00000371457.1_Missense_Mutation_p.G242R|PNPLA7_ENST00000277531.4_Missense_Mutation_p.G636R	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	636					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCGTACTCCCCGGCCAGGCGC	0.667													8	7					0	0	0	0	T	140391671	C	T	140391671	3	4	328	1	0	0	0	0	1	0	0	0	12242	652	23	1	2119	1	PNPLA7	9	140391671	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	140391671	821760	1261	59475	588	2									
CACNA1B	774	broad.mit.edu	37	chr9	141016177	141016177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccctcagccagcccctggCccctggctctcgaattggct	4	8	9	20	1	2	0	1	0	1	0	3	1	2	0	7	3	2	2	7	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:141016177C>T	ENST00000277549.5	+	47	6897	c.4328C>T	c.(4327-4329)gCc>gTc	p.A1443V	CACNA1B_ENST00000371363.1_Missense_Mutation_p.A2247V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.P2187S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A2250V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A2248V|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A2249V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2249					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAGCCCCTGGCCCCTGGCTCT	0.657													37	15					0	0	0	0	T	141016177	C	T	141016177	3	4	328	1	0	0	0	0	1	0	0	0	2564	739	26	4	6928	4	CACNA1B	9	141016177	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	624506	141016177	197254	1262	59476											
ZMYND11	10771	broad.mit.edu	37	chr10	255963	255963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctggtattgaacaagaagGatattggttgccaggagatg	13	10	14	4	0	0	3	0	1	0	2	0	5	0	4	1	4	3	3	1	4	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:255963G>A	ENST00000309776.4	+	3	679	c.131G>A	c.(130-132)gGa>gAa	p.G44E	ZMYND11_ENST00000381604.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000381591.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000381602.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000381607.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000397962.3_Missense_Mutation_p.G84E|ZMYND11_ENST00000558098.2_Missense_Mutation_p.G84E|ZMYND11_ENST00000397959.3_Missense_Mutation_p.G84E|ZMYND11_ENST00000381584.1_Missense_Mutation_p.G67E|ZMYND11_ENST00000602682.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000509513.2_Missense_Mutation_p.G84E|ZMYND11_ENST00000535374.1_5'UTR|ZMYND11_ENST00000402736.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000403354.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000545619.1_Missense_Mutation_p.G44E	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	44					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GAACAAGAAGGATATTGGTTG	0.373													33	70					0	0	0	0	A	255963	G	A	255963	3	1	328	1	0	0	0	0	1	0	0	0	17801	1174	41	2	257	2	ZMYND11	10	255963	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08		255963	135278784	1263	59477											
PFKP	5214	broad.mit.edu	37	chr10	3175453	3175453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaccagctgtattcagaaGagggcaaaggcgtgtttgac	11	11	12	7	1	1	3	1	1	0	2	1	3	1	3	1	2	2	4	1	2	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:3175453G>A	ENST00000381075.2	+	21	2169	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	PFKP_ENST00000381072.1_Missense_Mutation_p.E75K|PFKP_ENST00000381125.4_Missense_Mutation_p.E657K	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	657					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GTATTCAGAAGAGGGCAAAGG	0.522													70	117					0	0	0	0	A	3175453	G	A	3175453	3	1	328	1	0	0	0	0	1	0	0	0	11838	943	33	2	2043	2	PFKP	10	3175453	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2919490	3175453	132359294	1264	59478											
TUBAL3	79861	broad.mit.edu	37	chr10	5437377	5437377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taattgttagcagcatcctcCtttccgctaaggagctgctc	8	13	8	12	1	0	0	0	0	0	0	4	1	3	1	3	1	4	6	3	1	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:5437377C>T	ENST00000380419.3	-	3	346	c.309G>A	c.(307-309)aaG>aaA	p.K103K	TUBAL3_ENST00000479328.1_Silent_p.K63K	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	103					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CAGCATCCTCCTTTCCGCTAA	0.607													56	99					0	0	0	0	T	5437377	C	T	5437377	2	4	328	1	0	0	0	0	0	0	0	1	16847	680	24	4		4	TUBAL3	10	5437377	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2261924	5437377	130097370	1265	59479											
TUBAL3	79861	broad.mit.edu	37	chr10	5442963	5442963	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaacaacgccatttggctGgattccatgttccaggcaat	12	10	9	10	1	0	1	0	0	0	1	2	2	2	2	3	3	2	3	3	3	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:5442963G>A	ENST00000380419.3	-	2	128	c.91C>T	c.(91-93)Cag>Tag	p.Q31*	TUBAL3_ENST00000479328.1_Intron	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	31					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CCATTTGGCTGGATTCCATGT	0.473													50	103					0	0	0	0	A	5442963	G	A	5442963	4	1	328	1	0	0	0	0	0	1	0	0	16847	1357	47	4	1261	4	TUBAL3	10	5442963	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5586	5442963	130091784	1266	59480											
ITIH2	3698	broad.mit.edu	37	chr10	7777003	7777003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgatcgagaacgaggctgggGatgagcgcatgctggcggat	9	7	18	7	4	0	3	0	2	0	1	1	7	0	5	0	5	3	3	0	5	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:7777003G>A	ENST00000358415.4	+	15	2072	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N	ITIH2_ENST00000379587.4_Missense_Mutation_p.D625N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	636					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGAGGCTGGGGATGAGCGCAT	0.607													16	31					0	0	0	0	A	7777003	G	A	7777003	3	1	328	1	0	0	0	0	1	0	0	0	7957	1174	41	2	1964	2	ITIH2	10	7777003	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2334040	7777003	127757744	1267	59481											
ATP5C1	509	broad.mit.edu	37	chr10	7841765	7841765	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccagtttctggtggcattCaaagaagtgggaagaaagcc	13	8	13	7	0	2	2	1	0	1	2	2	4	2	3	2	3	1	2	2	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:7841765C>T	ENST00000356708.7	+	5	538	c.459C>T	c.(457-459)ttC>ttT	p.F153F	ATP5C1_ENST00000335698.4_Silent_p.F153F|ATP5C1_ENST00000541227.1_Silent_p.F106F|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	153					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TGGTGGCATTCAAAGAAGTGG	0.428													26	37					0	0	0	0	T	7841765	C	T	7841765	2	4	328	1	0	0	0	0	0	0	0	1	1153	825	29	2		2	ATP5C1	10	7841765	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	64762	7841765	127692982	1268	59482											
USP6NL	9712	broad.mit.edu	37	chr10	11505307	11505307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagccccgcttcccgtcCtcagcatccagggccttcat	5	9	10	17	2	2	0	2	0	0	0	5	1	5	1	6	2	2	2	6	2	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:11505307C>T	ENST00000379237.1	-	15	2014	c.1620G>A	c.(1618-1620)gaG>gaA	p.E540E	USP6NL_ENST00000277575.5_Silent_p.E557E	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	540						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTTCCCGTCCTCAGCATCCA	0.662													37	89					0	0	0	0	T	11505307	C	T	11505307	2	4	328	1	0	0	0	0	0	0	0	1	17183	680	24	4		4	USP6NL	10	11505307	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3663542	11505307	124029440	1269	59483											
USP6NL	9712	broad.mit.edu	37	chr10	11505362	11505362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgacacccgcacctcggcaGgacctgggacggtaactgcg	8	6	13	14	4	0	1	0	1	0	0	1	3	0	3	3	4	2	3	3	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:11505362G>A	ENST00000379237.1	-	15	1959	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L	USP6NL_ENST00000277575.5_Missense_Mutation_p.P539L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	522						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CACCTCGGCAGGACCTGGGAC	0.607													53	115					0	0	0	0	A	11505362	G	A	11505362	3	1	328	1	0	0	0	0	1	0	0	0	17183	1000	35	4	925	4	USP6NL	10	11505362	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	55	11505362	124029385	1270	59484											
HSPA14	51182	broad.mit.edu	37	chr10	14909102	14909102	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgtcctttgtggagggtcTtctcgaatcccaaagctaca	8	13	10	10	1	2	0	0	0	2	0	5	2	4	1	2	2	2	2	2	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:14909102T>C	ENST00000378372.3	+	11	1253	c.1014T>C	c.(1012-1014)tcT>tcC	p.S338S		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	338					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						GTGGAGGGTCTTCTCGAATCC	0.383													36	68					0	0	0	0	C	14909102	T	C	14909102	2	2	328	1	0	0	0	0	0	0	0	1	7459	1596	56	5		5	HSPA14	10	14909102	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	3403740	14909102	120625645	1271	59485											
ITGA8	8516	broad.mit.edu	37	chr10	15760852	15760852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctcccccttccacgatatCgggctggctggtgttggctt	3	12	13	13	2	0	0	0	0	0	0	3	1	2	0	3	5	0	5	3	5	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:15760852C>T	ENST00000378076.3	-	2	609	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	86					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCACGATATCGGGCTGGCTG	0.577													33	71					0	0	0	0	T	15760852	C	T	15760852	3	4	328	1	0	0	0	0	1	0	0	0	7935	884	31	1	3051	1	ITGA8	10	15760852	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	851750	15760852	119773895	1272	59486											
CUBN	8029	broad.mit.edu	37	chr10	16882500	16882500	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgatgaaatattttgtggGgtccaagttgcattgtatgt	9	16	13	3	0	0	2	0	2	0	0	1	2	1	2	1	3	1	3	1	3	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:16882500G>A	ENST00000377833.4	-	62	9926	c.9861C>T	c.(9859-9861)acC>acT	p.T3287T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3287	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTTTGTGGGGTCCAAGTTG	0.448													4	5					0	0	0	0	A	16882500	G	A	16882500	2	1	328	1	0	0	0	0	0	0	0	1	4083	1219	43	4		4	CUBN	10	16882500	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1121648	16882500	118652247	1273	59487											
CUBN	8029	broad.mit.edu	37	chr10	16955870	16955870	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcaggttgttaaacattagGgtgatccgccttccctccgg	7	12	10	12	2	1	1	1	1	0	0	4	1	4	1	4	3	1	2	4	3	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:16955870G>A	ENST00000377833.4	-	48	7538	c.7473C>T	c.(7471-7473)acC>acT	p.T2491T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2491	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAACATTAGGGTGATCCGCC	0.512													47	80					0	0	0	0	A	16955870	G	A	16955870	2	1	328	1	0	0	0	0	0	0	0	1	4083	1219	43	4		4	CUBN	10	16955870	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	73370	16955870	118578877	1274	59488											
SLC39A12	221074	broad.mit.edu	37	chr10	18250715	18250715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctcaggcaggatgaagattCctctttcctttcacagaatg	10	12	8	11	0	3	3	2	1	1	2	5	4	5	4	3	2	0	1	3	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:18250715C>T	ENST00000377369.2	+	3	740	c.467C>T	c.(466-468)tCc>tTc	p.S156F	SLC39A12_ENST00000539911.1_Missense_Mutation_p.S22F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S156F|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S156F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	156					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GATGAAGATTCCTCTTTCCTT	0.403													20	43					0	0	0	0	T	18250715	C	T	18250715	3	4	328	1	0	0	0	0	1	0	0	0	14703	855	30	2	473	2	SLC39A12	10	18250715	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1294845	18250715	117284032	1275	59489											
NEBL	10529	broad.mit.edu	37	chr10	21097456	21097456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctccttcatcagacggtCttgttacctcactgcagcat	8	13	6	14	1	4	1	3	0	1	1	5	1	5	1	3	1	4	3	3	1	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:21097456C>T	ENST00000377122.4	-	26	3140	c.2744G>A	c.(2743-2745)aGa>aAa	p.R915K	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	915	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATCAGACGGTCTTGTTACCTC	0.413													31	51					0	0	0	0	T	21097456	C	T	21097456	3	4	328	1	0	0	0	0	1	0	0	0	10373	913	32	2	312	2	NEBL	10	21097456	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2846741	21097456	114437291	1276	59490											
ARMC3	219681	broad.mit.edu	37	chr10	23321901	23321901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttaaatccaatgttataccGattggacatgtcaaaaaagg	16	11	7	7	1	1	0	1	0	0	0	2	2	2	1	2	2	1	1	2	2	8	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:23321901G>A	ENST00000298032.5	+	18	2442	c.2358G>A	c.(2356-2358)ccG>ccA	p.P786P	ARMC3_ENST00000376528.4_Silent_p.P523P|ARMC3_ENST00000409983.3_Silent_p.P779P	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	786							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGTTATACCGATTGGACATG	0.353													23	35					0	0	0	0	A	23321901	G	A	23321901	2	1	328	1	0	0	0	0	0	0	0	1	956	1045	37	1		1	ARMC3	10	23321901	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2224445	23321901	112212846	1277	59491											
MSRB2	22921	broad.mit.edu	37	chr10	23408343	23408343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgagacgtctggatacctCgttaggatcagctcgcacag	9	9	11	12	3	2	1	1	1	1	1	4	4	2	3	2	2	2	3	2	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:23408343C>T	ENST00000376510.3	+	4	510	c.407C>T	c.(406-408)tCg>tTg	p.S136L	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	136					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	CTGGATACCTCGTTAGGATCA	0.522													25	47					0	0	0	0	T	23408343	C	T	23408343	3	4	328	1	0	0	0	0	1	0	0	0	9958	893	31	1	421	1	MSRB2	10	23408343	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	86442	23408343	112126404	1278	59492											
ARHGAP21	57584	broad.mit.edu	37	chr10	24874385	24874385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcccccttgctctctgcCacggattgcacctcagggct	4	11	9	17	2	2	0	1	0	1	0	5	1	3	1	4	2	3	3	4	2	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:24874385C>T	ENST00000396432.2	-	26	5319	c.4833G>A	c.(4831-4833)gtG>gtA	p.V1611V		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1610	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCTCTCTGCCACGGATTGCA	0.567													39	49					0	0	0	0	T	24874385	C	T	24874385	2	4	328	1	0	0	0	0	0	0	0	1	873	581	21	4		4	ARHGAP21	10	24874385	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1466042	24874385	110660362	1279	59493											
ARHGAP21	57584	broad.mit.edu	37	chr10	24908777	24908777	+	Missense_Mutation	SNP	G	G	A																															agaggctccagataaagaggGggatttcccagtctccactt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:24908777G>A	ENST00000396432.2	-	9	2533	c.2047C>T	c.(2047-2049)Ccc>Tcc	p.P683S	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P470S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	682					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GATAAAGAGGGGGATTTCCCA	0.483													17	36					0	0	0	0	A	24908777	G	A	24908777	3	1	328	1	0	0	0	0	1	0	0	0	873	1232	43	4	3901	4	ARHGAP21	10	24908777	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	34392	24908777	110625970	1280	59494	589	2									
ARHGAP21	57584	broad.mit.edu	37	chr10	24908778	24908778	+	Silent	SNP	G	G	A																															gaggctccagataaagagggGgatttcccagtctccacttg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:24908778G>A	ENST00000396432.2	-	9	2532	c.2046C>T	c.(2044-2046)tcC>tcT	p.S682S	ARHGAP21_ENST00000320481.6_Silent_p.S469S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	681					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATAAAGAGGGGGATTTCCCAG	0.483													17	37					0	0	0	0	A	24908778	G	A	24908778	2	1	328	1	0	0	0	0	0	0	0	1	873	1219	43	4		4	ARHGAP21	10	24908778	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	24908778	110625969	1281	59495	589	2									
MYO3A	53904	broad.mit.edu	37	chr10	26436377	26436377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcctctataatgcaagtGgattcttagccaaaaacaga	15	10	8	8	0	2	1	0	0	2	1	3	2	3	2	2	2	3	1	2	2	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:26436377G>A	ENST00000265944.5	+	23	2690	c.2524G>A	c.(2524-2526)Gga>Aga	p.G842R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	842	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAATGCAAGTGGATTCTTAGC	0.408													27	67					0	0	0	0	A	26436377	G	A	26436377	3	1	328	1	0	0	0	0	1	0	0	0	10146	1349	47	4	2606	4	MYO3A	10	26436377	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1527599	26436377	109098370	1282	59496											
MYO3A	53904	broad.mit.edu	37	chr10	26500951	26500951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcctgcggggcagcagggGccaagcaggcactctggggc	7	3	19	12	1	1	0	0	0	1	0	1	1	1	0	2	7	4	4	2	7	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:26500951G>A	ENST00000543632.1	+	17	2016	c.1956G>A	c.(1954-1956)ggG>ggA	p.G652G	MYO3A_ENST00000265944.5_3'UTR			Q8NEV4	MYO3A_HUMAN	myosin IIIA	0	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGCAGCAGGGGCCAAGCAGGC	0.706													7	4					0	0	0	0	A	26500951	G	A	26500951	2	1	328	1	0	0	0	0	0	0	0	1	10146	1218	42	4		4	MYO3A	10	26500951	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	64574	26500951	109033796	1283	59497											
PDSS1	23590	broad.mit.edu	37	chr10	26994289	26994289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctttcaaactcggttggaGagacttgaaaggtctgtatg	10	13	11	7	1	2	2	1	1	1	1	4	4	3	3	1	3	1	2	1	3	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:26994289G>A	ENST00000376215.5	+	4	355	c.302G>A	c.(301-303)aGa>aAa	p.R101K	PDSS1_ENST00000376203.5_Missense_Mutation_p.R101K	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	101					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CTCGGTTGGAGAGACTTGAAA	0.368													13	21					0	0	0	0	A	26994289	G	A	26994289	3	1	328	1	0	0	0	0	1	0	0	0	11764	942	33	2	316	2	PDSS1	10	26994289	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	493338	26994289	108540458	1284	59498											
ARMC4	55130	broad.mit.edu	37	chr10	28149713	28149713	+	Silent	SNP	C	C	T																															tcaccgaaggccactctattCctgccccacatacagcaacg																								rs145155399	by1000genomes	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:28149713C>T	ENST00000305242.5	-	19	2954	c.2862G>A	c.(2860-2862)agG>agA	p.R954R	ARMC4_ENST00000537576.1_Silent_p.R646R|ARMC4_ENST00000545014.1_Silent_p.R479R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	954							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCACTCTATTCCTGCCCCACA	0.463													24	39					0	0	0	0	T	28149713	C	T	28149713	2	4	328	1	0	0	0	0	0	0	0	1	957	854	30	2		2	ARMC4	10	28149713	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1155424	28149713	107385034	1285	59499	590	2									
ARMC4	55130	broad.mit.edu	37	chr10	28149714	28149714	+	Missense_Mutation	SNP	C	C	T																															caccgaaggccactctattcCtgccccacatacagcaacgt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:28149714C>T	ENST00000305242.5	-	19	2953	c.2861G>A	c.(2860-2862)aGg>aAg	p.R954K	ARMC4_ENST00000537576.1_Missense_Mutation_p.R646K|ARMC4_ENST00000545014.1_Missense_Mutation_p.R479K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	954							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CACTCTATTCCTGCCCCACAT	0.463													25	39					0	0	0	0	T	28149714	C	T	28149714	3	4	328	1	0	0	0	0	1	0	0	0	957	681	24	4	281	4	ARMC4	10	28149714	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	28149714	107385033	1286	59500	590	2									
WAC	51322	broad.mit.edu	37	chr10	28900804	28900804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctcaaactaacacagtcCctatcaaacctttgatcagt	14	10	3	14	0	3	1	3	1	0	0	4	1	4	1	3	0	3	0	3	0	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:28900804C>T	ENST00000375664.3	+	10	1864	c.1255C>T	c.(1255-1257)Cct>Tct	p.P419S	WAC_ENST00000375646.1_Missense_Mutation_p.P312S|WAC_ENST00000354911.4_Missense_Mutation_p.P464S|WAC_ENST00000347934.4_Missense_Mutation_p.P361S			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	464					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TAACACAGTCCCTATCAAACC	0.418													45	65					0	0	0	0	T	28900804	C	T	28900804	3	4	328	1	0	0	0	0	1	0	0	0	17343	623	22	4	1428	4	WAC	10	28900804	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	751090	28900804	106633943	1287	59501											
MAP3K8	1326	broad.mit.edu	37	chr10	30748415	30748415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtaggaaggagctggaacttCctgagaacattgctggtagg	11	9	15	6	0	0	1	0	1	0	1	1	5	1	4	1	5	4	4	1	5	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:30748415C>T	ENST00000263056.1	+	8	1954	c.1258C>T	c.(1258-1260)Cct>Tct	p.P420S	MAP3K8_ENST00000375321.1_Missense_Mutation_p.P420S|MAP3K8_ENST00000542547.1_Missense_Mutation_p.P420S	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	420			Missing (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GCTGGAACTTCCTGAGAACAT	0.552													19	37					0	0	0	0	T	30748415	C	T	30748415	3	4	328	1	0	0	0	0	1	0	0	0	9325	855	30	2	1280	2	MAP3K8	10	30748415	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1847611	30748415	104786332	1288	59502											
ANKRD30A	91074	broad.mit.edu	37	chr10	37419291	37419291	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcccatggtgcagtcatCgaagtgcacaacaaggtaga	12	8	11	10	1	1	1	1	0	0	1	3	2	2	1	1	2	3	3	1	2	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:37419291C>T	ENST00000374660.1	+	3	426	c.327C>T	c.(325-327)atC>atT	p.I109I	ANKRD30A_ENST00000361713.1_Silent_p.I109I|ANKRD30A_ENST00000602533.1_Silent_p.I109I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	165						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTGCAGTCATCGAAGTGCACA	0.353													23	28					0	0	0	0	T	37419291	C	T	37419291	2	4	328	1	0	0	0	0	0	0	0	1	658	874	31	1		1	ANKRD30A	10	37419291	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6670876	37419291	98115456	1289	59503											
ANKRD30A	91074	broad.mit.edu	37	chr10	37438738	37438738	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaaaactctgttccaaatAaagcctttgaattgaagaat	16	12	6	7	0	1	3	0	2	1	1	2	3	2	3	2	0	3	2	2	0	8	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:37438738A>G	ENST00000374660.1	+	11	1537	c.1438A>G	c.(1438-1440)Aaa>Gaa	p.K480E	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K480E|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K480E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	536						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGTTCCAAATAAAGCCTTTGA	0.299													32	44					0	0	0	0	G	37438738	A	G	37438738	3	3	328	1	0	0	0	0	1	0	0	0	658	363	13	5	1480	5	ANKRD30A	10	37438738	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	19447	37438738	98096009	1290	59504											
ANKRD30A	91074	broad.mit.edu	37	chr10	37506784	37506784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagatatagaattgaagaGtgtagaaagtaatttgaatc	19	11	9	2	0	0	6	0	2	0	4	1	6	0	6	0	0	0	2	0	0	9	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:37506784G>A	ENST00000374660.1	+	39	3533	c.3434G>A	c.(3433-3435)aGt>aAt	p.S1145N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S1026N|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S1026N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1120						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAATTGAAGAGTGTAGAAAGT	0.294													10	28					0	0	0	0	A	37506784	G	A	37506784	3	1	328	1	0	0	0	0	1	0	0	0	658	1029	36	4	3207	4	ANKRD30A	10	37506784	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	68046	37506784	98027963	1291	59505											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508061	37508061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacattaagattttaaaaGaaaagaatgctgaacttcag	19	10	8	4	0	1	4	1	1	0	3	1	5	1	5	0	1	2	1	0	1	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:37508061G>A	ENST00000374660.1	+	40	3709	c.3610G>A	c.(3610-3612)Gaa>Aaa	p.E1204K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1085K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1085K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GATTTTAAAAGAAAAGAATGC	0.348													38	85					0	0	0	0	A	37508061	G	A	37508061	3	1	328	1	0	0	0	0	1	0	0	0	658	943	33	2	3387	2	ANKRD30A	10	37508061	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1277	37508061	98026686	1292	59506											
ZNF33B	7582	broad.mit.edu	37	chr10	43078459	43078459	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaggtagtttggaagaaggGaaggccattgatcttccagt	12	10	14	5	0	1	2	0	1	1	1	2	5	2	4	2	4	0	2	2	4	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:43078459G>A	ENST00000486187.1	-	0	523							Q06732	ZN33B_HUMAN	zinc finger protein 33B							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGGAAGAAGGGAAGGCCATTG	0.512													4	11					0	0	0	0	A	43078459	G	A	43078459	1	1	328	0	1	0	0	0	0	0	0	0	17950	1189	41	2		2	ZNF33B	10	43078459	RNA	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5570398	43078459	92456288	1293	59507											
RET	5979	broad.mit.edu	37	chr10	43612121	43612121	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagtggtcaaggcaacGgccttccatctgaaaggcag	13	6	13	9	1	2	1	1	1	1	0	3	2	3	2	2	5	1	2	2	5	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:43612121G>A	ENST00000355710.3	+	12	2458	c.2226G>A	c.(2224-2226)acG>acA	p.T742T	RET_ENST00000340058.5_Silent_p.T742T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	742	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCAAGGCAACGGCCTTCCATC	0.537		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				76	118					0	0	0	0	A	43612121	G	A	43612121	2	1	328	1	0	0	0	0	0	0	0	1	13317	1103	39	1		1	RET	10	43612121	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	533662	43612121	91922626	1294	59508											
RASGEF1A	221002	broad.mit.edu	37	chr10	43695197	43695197	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcctccaggctgtaggtcTtggtcaggtcccctcggcac	5	9	13	14	1	2	0	1	0	1	0	5	0	4	0	4	6	0	3	4	6	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:43695197T>A	ENST00000395809.1	-	7	3282	c.776A>T	c.(775-777)aAg>aTg	p.K259M	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.K267M|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.K259M			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	259	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GCTGTAGGTCTTGGTCAGGTC	0.617													18	28					0	0	0	0	A	43695197	T	A	43695197	3	1	328	1	0	0	0	0	1	0	0	0	13151	1609	56	5	697	5	RASGEF1A	10	43695197	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	83076	43695197	91839550	1295	59509											
C10orf25	220979	broad.mit.edu	37	chr10	45495857	45495857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacggccaggatggctgaGgaggagcctggaaggaataa	13	4	17	7	1	0	1	0	1	0	0	0	6	0	6	2	7	2	2	2	7	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:45495857G>A	ENST00000298298.1	-	2	366	c.338C>T	c.(337-339)cCt>cTt	p.P113L		NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN	chromosome 10 open reading frame 25	113						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						GGATGGCTGAGGAGGAGCCTG	0.512													7	14					0	0	0	0	A	45495857	G	A	45495857	3	1	328	1	0	0	0	0	1	0	0	0	1608	1000	35	4	34	4	C10orf25	10	45495857	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1800660	45495857	90038890	1296	59510											
ALOX5	240	broad.mit.edu	37	chr10	45938939	45938939	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacccggagctgcaggacttCgtgaacgatgtctacgtgta	9	9	13	10	4	1	1	0	1	1	0	2	5	1	3	1	2	4	3	1	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:45938939C>T	ENST00000374391.2	+	11	1580	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	ALOX5_ENST00000542434.1_Silent_p.F509F	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	509	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TGCAGGACTTCGTGAACGATG	0.687													15	24					0	0	0	0	T	45938939	C	T	45938939	2	4	328	1	0	0	0	0	0	0	0	1	540	883	31	1		1	ALOX5	10	45938939	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	443082	45938939	89595808	1297	59511											
RBP3	5949	broad.mit.edu	37	chr10	48389383	48389383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcacggggccggcctcagGgccctggaagtaggacagga	8	4	18	11	2	1	0	1	0	0	0	1	3	1	3	3	7	1	2	3	7	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48389383G>A	ENST00000224600.4	-	1	1608	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	499	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCGGCCTCAGGGCCCTGGAAG	0.652													14	29					0	0	0	0	A	48389383	G	A	48389383	3	1	328	1	0	0	0	0	1	0	0	0	13239	1232	43	4	2264	4	RBP3	10	48389383	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2450444	48389383	87145364	1298	59512											
RBP3	5949	broad.mit.edu	37	chr10	48389614	48389614	+	Missense_Mutation	SNP	G	G	A																															agagtccaccagtgcttgccGgatagcctcgtcctcaggca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48389614G>A	ENST00000224600.4	-	1	1377	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	422	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGTGCTTGCCGGATAGCCTCG	0.632													20	40					0	0	0	0	A	48389614	G	A	48389614	3	1	328	1	0	0	0	0	1	0	0	0	13239	1115	39	1	2495	1	RBP3	10	48389614	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	231	48389614	87145133	1299	59513	591	2									
RBP3	5949	broad.mit.edu	37	chr10	48389615	48389615	+	Silent	SNP	G	G	A																															gagtccaccagtgcttgccgGatagcctcgtcctcaggcaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48389615G>A	ENST00000224600.4	-	1	1376	c.1263C>T	c.(1261-1263)atC>atT	p.I421I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	421	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGCTTGCCGGATAGCCTCGT	0.637													21	40					0	0	0	0	A	48389615	G	A	48389615	2	1	328	1	0	0	0	0	0	0	0	1	13239	1164	41	2		2	RBP3	10	48389615	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	48389615	87145132	1300	59514	591	2									
GDF2	2658	broad.mit.edu	37	chr10	48413933	48413933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttccgcctggctaaagtcGaccccgcagccacgtggcca	7	8	10	16	4	0	0	0	0	0	0	2	1	1	0	6	2	1	2	6	2	2	3	rs141580368		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48413933G>A	ENST00000249598.1	-	2	1094	c.935C>T	c.(934-936)tCg>tTg	p.S312L		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	312					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGCTAAAGTCGACCCCGCAGC	0.617													33	46					0	0	0	0	A	48413933	G	A	48413933	3	1	328	1	0	0	0	0	1	0	0	0	6365	1059	37	1	358	1	GDF2	10	48413933	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	24318	48413933	87120814	1301	59515											
GDF2	2658	broad.mit.edu	37	chr10	48414339	48414339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcccaggcatctgttccatCcagaacatcataaatgacca	14	9	5	13	0	2	2	1	1	1	1	5	2	5	2	4	1	1	2	4	1	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48414339C>T	ENST00000249598.1	-	2	688	c.529G>A	c.(529-531)Gat>Aat	p.D177N		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	177					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCTGTTCCATCCAGAACATCA	0.532													17	30					0	0	0	0	T	48414339	C	T	48414339	3	4	328	1	0	0	0	0	1	0	0	0	6365	855	30	2	764	2	GDF2	10	48414339	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	406	48414339	87120408	1302	59516											
GDF10	2662	broad.mit.edu	37	chr10	48438543	48438543	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcgtccccagggtgccgctgGagatccctgtccccctgcag	4	7	13	17	2	0	1	0	0	0	1	3	2	3	1	6	2	2	2	6	2	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48438543G>A	ENST00000224605.2	-	1	433	c.168C>T	c.(166-168)ctC>ctT	p.L56L		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	56					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGTGCCGCTGGAGATCCCTGT	0.711													4	9					0	0	0	0	A	48438543	G	A	48438543	2	1	328	1	0	0	0	0	0	0	0	1	6362	1161	41	2		2	GDF10	10	48438543	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	24204	48438543	87096204	1303	59517											
FRMPD2	143162	broad.mit.edu	37	chr10	49376703	49376703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaaaggaggagcgtgacttCctgtggggcccctctcagta	8	8	14	11	1	1	1	1	1	1	0	3	3	2	3	3	4	1	2	3	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:49376703C>T	ENST00000374201.3	-	27	3774	c.3472G>A	c.(3472-3474)Gaa>Aaa	p.E1158K	FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000474573.1_Missense_Mutation_p.E110K|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E1133K|FRMPD2_ENST00000407470.4_Missense_Mutation_p.E1126K	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1158	PDZ 3.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGCGTGACTTCCTGTGGGGCC	0.567													58	13					0	0	0	0	T	49376703	C	T	49376703	3	4	328	1	0	0	0	0	1	0	0	0	6106	864	30	2	469	2	FRMPD2	10	49376703	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	938160	49376703	86158044	1304	59518											
FRMPD2	143162	broad.mit.edu	37	chr10	49431286	49431286	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattttgcacaatctggttTcactgtccaggaaaaagaac	13	12	7	9	0	2	1	1	0	1	1	3	2	3	2	1	2	2	2	1	2	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:49431286T>A	ENST00000374201.3	-	11	1498	c.1196A>T	c.(1195-1197)gAa>gTa	p.E399V	FRMPD2_ENST00000305531.3_Missense_Mutation_p.E375V|FRMPD2_ENST00000407470.4_Missense_Mutation_p.E368V	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	399	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAATCTGGTTTCACTGTCCAG	0.458													30	28					0	0	0	0	A	49431286	T	A	49431286	3	1	328	1	0	0	0	0	1	0	0	0	6106	1783	62	5	2809	5	FRMPD2	10	49431286	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	54583	49431286	86103461	1305	59519											
A1CF	29974	broad.mit.edu	37	chr10	52573626	52573626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acattacctacctggggagcGagtttaattccttggggttt	8	14	11	8	1	0	0	0	0	0	0	1	2	1	1	3	4	3	2	3	4	3	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:52573626G>A	ENST00000395489.2	-	12	1713	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	A1CF_ENST00000395495.1_Silent_p.L391L|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Silent_p.L438L|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Silent_p.L446L|A1CF_ENST00000373993.1_Silent_p.L446L|A1CF_ENST00000282641.2_Silent_p.L446L|A1CF_ENST00000373997.3_Silent_p.L438L	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	446					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTGGGGAGCGAGTTTAATTC	0.388													32	53					0	0	0	0	A	52573626	G	A	52573626	2	1	328	1	0	0	0	0	0	0	0	1	2	1045	37	1		1	A1CF	10	52573626	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3142340	52573626	82961121	1306	59520											
A1CF	29974	broad.mit.edu	37	chr10	52573680	52573680	+	Silent	SNP	C	C	T																															ttcattggggtgagctccatCccaggtaaaatgtcatagag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:52573680C>T	ENST00000395489.2	-	12	1659	c.1263G>A	c.(1261-1263)ggG>ggA	p.G421G	A1CF_ENST00000395495.1_Silent_p.G373G|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Silent_p.G420G|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Silent_p.G428G|A1CF_ENST00000373993.1_Silent_p.G428G|A1CF_ENST00000282641.2_Silent_p.G428G|A1CF_ENST00000373997.3_Silent_p.G420G	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	428					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGAGCTCCATCCCAGGTAAAA	0.458													36	61					0	0	0	0	T	52573680	C	T	52573680	2	4	328	1	0	0	0	0	0	0	0	1	2	842	30	2		2	A1CF	10	52573680	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	54	52573680	82961067	1307	59521	592	2									
A1CF	29974	broad.mit.edu	37	chr10	52573681	52573681	+	Missense_Mutation	SNP	C	C	T																															tcattggggtgagctccatcCcaggtaaaatgtcatagagt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:52573681C>T	ENST00000395489.2	-	12	1658	c.1262G>A	c.(1261-1263)gGg>gAg	p.G421E	A1CF_ENST00000395495.1_Missense_Mutation_p.G373E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Missense_Mutation_p.G420E|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Missense_Mutation_p.G428E|A1CF_ENST00000373993.1_Missense_Mutation_p.G428E|A1CF_ENST00000282641.2_Missense_Mutation_p.G428E|A1CF_ENST00000373997.3_Missense_Mutation_p.G420E	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	428					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GAGCTCCATCCCAGGTAAAAT	0.463													35	62					0	0	0	0	T	52573681	C	T	52573681	3	4	328	1	0	0	0	0	1	0	0	0	2	623	22	4	517	4	A1CF	10	52573681	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	52573681	82961066	1308	59522	592	2									
PRKG1	5592	broad.mit.edu	37	chr10	54032216	54032216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagcttgtctaggtggaGagctctggaccattctcagg	8	11	14	8	0	3	1	1	0	3	1	4	4	3	3	1	5	2	2	1	5	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:54032216G>A	ENST00000373980.4	+	12	1795	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.E433K|PRKG1_ENST00000373975.2_Missense_Mutation_p.E163K|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Missense_Mutation_p.E445K	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	445	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCTAGGTGGAGAGCTCTGGAC	0.343													26	45					0	0	0	0	A	54032216	G	A	54032216	3	1	328	1	0	0	0	0	1	0	0	0	12602	943	33	2	1694	2	PRKG1	10	54032216	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1458535	54032216	81502531	1309	59523											
PCDH15	65217	broad.mit.edu	37	chr10	55698611	55698611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagattggcaaggaccacttCcagggaatcagcttggactc	11	8	12	10	0	1	1	1	0	0	1	3	5	2	4	2	4	1	2	2	4	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:55698611C>T	ENST00000373965.2	-	26	3752	c.3358G>A	c.(3358-3360)Gaa>Aaa	p.E1120K	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1113K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1120K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E724K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1042K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1113K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1113K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1118K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1113K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1091K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1076K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1113	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGGACCACTTCCAGGGAATCA	0.378										HNSCC(58;0.16)			39	50					0	0	0	0	T	55698611	C	T	55698611	3	4	328	1	0	0	0	0	1	0	0	0	11582	864	30	2	4185	2	PCDH15	10	55698611	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1666395	55698611	79836136	1310	59524											
PCDH15	65217	broad.mit.edu	37	chr10	55849754	55849754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaacttacgtttctgaaaGattaaaaactctctgaggat	14	15	6	6	1	2	3	0	2	2	1	3	4	2	4	0	1	3	1	0	1	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:55849754G>A	ENST00000373965.2	-	17	2402	c.2008C>T	c.(2008-2010)Ctt>Ttt	p.L670F	PCDH15_ENST00000373957.3_Missense_Mutation_p.L641F|PCDH15_ENST00000373955.1_Missense_Mutation_p.L663F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.L663F|PCDH15_ENST00000395445.1_Missense_Mutation_p.L670F|PCDH15_ENST00000409834.1_Missense_Mutation_p.L274F|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.L663F|PCDH15_ENST00000320301.6_Missense_Mutation_p.L663F|PCDH15_ENST00000395446.1_Missense_Mutation_p.L663F|PCDH15_ENST00000414778.1_Missense_Mutation_p.L668F|PCDH15_ENST00000361849.3_Missense_Mutation_p.L663F|PCDH15_ENST00000395433.1_Missense_Mutation_p.L641F|PCDH15_ENST00000395432.2_Missense_Mutation_p.L626F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	663	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTCTGAAAGATTAAAAACT	0.348										HNSCC(58;0.16)			20	35					0	0	0	0	A	55849754	G	A	55849754	3	1	328	1	0	0	0	0	1	0	0	0	11582	942	33	2	5571	2	PCDH15	10	55849754	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	151143	55849754	79684993	1311	59525											
CDK1	983	broad.mit.edu	37	chr10	62553652	62553652	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaatgttaatctatgaTccagccaaacgaatttctgg	15	11	7	8	1	2	2	0	1	2	1	3	3	3	2	2	1	2	1	2	1	6	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:62553652T>G	ENST00000448257.2	+	8	1014	c.813T>G	c.(811-813)gaT>gaG	p.D271E	CDK1_ENST00000395284.3_Missense_Mutation_p.D271E|CDK1_ENST00000316629.4_Missense_Mutation_p.D214E|CDK1_ENST00000373809.2_Missense_Mutation_p.D214E			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	271	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1						TAATCTATGATCCAGCCAAAC	0.294													22	31					0	0	0	0	G	62553652	T	G	62553652	3	3	328	1	0	0	0	0	1	0	0	0	3153	1432	50	5	851	5	CDK1	10	62553652	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	6703898	62553652	72981095	1312	59526											
RTKN2	219790	broad.mit.edu	37	chr10	63959550	63959550	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggttgcctcttttgtcaaGaacaaaggtggtttccgtgg	8	13	13	7	1	2	1	1	0	1	1	3	2	3	1	2	4	2	2	2	4	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:63959550G>A	ENST00000373789.3	-	11	1353	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	RTKN2_ENST00000315289.2_Silent_p.F221F|RTKN2_ENST00000395265.1_Silent_p.F440F	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	419					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CTTTTGTCAAGAACAAAGGTG	0.398													23	41					0	0	0	0	A	63959550	G	A	63959550	2	1	328	1	0	0	0	0	0	0	0	1	13808	933	33	2		2	RTKN2	10	63959550	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1405898	63959550	71575197	1313	59527											
CTNNA3	29119	broad.mit.edu	37	chr10	68979493	68979493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatttcttcacaaactgtgtCcttgcttgctttgagggaag	9	15	9	8	0	2	1	1	1	1	0	3	2	3	2	1	1	3	2	1	1	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:68979493C>T	ENST00000433211.1	-	6	889	c.715G>A	c.(715-717)Gac>Aac	p.D239N	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D239N|CTNNA3_ENST00000545309.1_Missense_Mutation_p.D239N	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	239					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAAACTGTGTCCTTGCTTGCT	0.453													44	70					0	0	0	0	T	68979493	C	T	68979493	3	4	328	1	0	0	0	0	1	0	0	0	4046	855	30	2	2024	2	CTNNA3	10	68979493	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5019943	68979493	66555254	1314	59528											
TET1	80312	broad.mit.edu	37	chr10	70332448	70332448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagcaggcgactctcccaacCcccactggtcgtagccaaat	10	7	8	16	2	1	0	0	0	1	0	3	1	1	0	4	2	3	2	4	2	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:70332448C>T	ENST00000373644.4	+	2	562	c.353C>T	c.(352-354)cCc>cTc	p.P118L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	118					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTCTCCCAACCCCCACTGGTC	0.458													33	44					0	0	0	0	T	70332448	C	T	70332448	3	4	328	1	0	0	0	0	1	0	0	0	15863	623	22	4	355	4	TET1	10	70332448	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1352955	70332448	65202299	1315	59529											
CCAR1	55749	broad.mit.edu	37	chr10	70520823	70520823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttccaaaggattaaaatcCcagttaatagcccgattgac	15	10	7	9	1	0	1	0	1	0	0	2	3	2	2	3	1	1	2	3	1	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:70520823C>T	ENST00000265872.6	+	16	2099	c.1980C>T	c.(1978-1980)tcC>tcT	p.S660S	CCAR1_ENST00000535016.1_Silent_p.S645S|CCAR1_ENST00000543719.1_Silent_p.S645S	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	660	SAP.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GATTAAAATCCCAGTTAATAG	0.363													34	52					0	0	0	0	T	70520823	C	T	70520823	2	4	328	1	0	0	0	0	0	0	0	1	2755	610	22	4		4	CCAR1	10	70520823	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	188375	70520823	65013924	1316	59530											
PRF1	5551	broad.mit.edu	37	chr10	72357844	72357844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actccggtttcctggaggctCccccagaagcatttggggga	7	9	13	12	1	0	1	0	0	0	1	3	3	3	3	4	5	1	3	4	5	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:72357844C>T	ENST00000441259.1	-	3	1793	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	PRF1_ENST00000373209.2_Missense_Mutation_p.E545K	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	545					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCTGGAGGCTCCCCCAGAAGC	0.587			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				18	33					0	0	0	0	T	72357844	C	T	72357844	3	4	328	1	0	0	0	0	1	0	0	0	12558	864	30	2	38	2	PRF1	10	72357844	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1837021	72357844	63176903	1317	59531											
ADAMTS14	140766	broad.mit.edu	37	chr10	72489106	72489106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catataaatattgccctcgtCcgcttgatcatggttggcta	9	14	8	10	2	1	1	1	1	0	0	3	1	2	1	2	2	1	3	2	2	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:72489106C>T	ENST00000373208.1	+	5	927	c.927C>T	c.(925-927)gtC>gtT	p.V309V	ADAMTS14_ENST00000373207.1_Silent_p.V309V	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	309	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TTGCCCTCGTCCGCTTGATCA	0.493													22	40					0	0	0	0	T	72489106	C	T	72489106	2	4	328	1	0	0	0	0	0	0	0	1	259	842	30	2		2	ADAMTS14	10	72489106	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	131262	72489106	63045641	1318	59532											
CDH23	64072	broad.mit.edu	37	chr10	73450305	73450305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtccatcatctactccttgGaaggctccacccagtttcgg	8	11	8	14	1	2	0	1	0	1	0	6	1	5	1	4	3	1	2	4	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:73450305G>A	ENST00000224721.6	+	19	2160	c.2155G>A	c.(2155-2157)Gaa>Aaa	p.E719K	CDH23_ENST00000299366.7_Missense_Mutation_p.E759K	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	714	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.E719K(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTACTCCTTGGAAGGCTCCAC	0.622													6	11					0	0	0	0	A	73450305	G	A	73450305	3	1	328	1	0	0	0	0	1	0	0	0	3137	1175	41	2	2441	2	CDH23	10	73450305	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	961199	73450305	62084442	1319	59533											
CDH23	64072	broad.mit.edu	37	chr10	73539197	73539197	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacagcatcatggatggagaCcctctgggtgagtggggctt	8	10	15	8	0	2	2	1	1	1	1	2	4	2	3	1	5	2	2	1	5	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:73539197C>T	ENST00000224721.6	+	40	5381	c.5376C>T	c.(5374-5376)gaC>gaT	p.D1792D		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1787	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGATGGAGACCCTCTGGGTG	0.632													6	16					0	0	0	0	T	73539197	C	T	73539197	2	4	328	1	0	0	0	0	0	0	0	1	3137	506	18	4		4	CDH23	10	73539197	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	88892	73539197	61995550	1320	59534											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406700	75406700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcggggggcaagcacagtggGagccaggggttctgcagtgg	7	6	20	8	1	1	0	0	0	1	0	2	1	1	1	1	7	3	4	1	7	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:75406700G>A	ENST00000394810.2	-	4	2859	c.2710C>T	c.(2710-2712)Ccc>Tcc	p.P904S	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P680S	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	904	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					AGCACAGTGGGAGCCAGGGGT	0.642													26	48					0	0	0	0	A	75406700	G	A	75406700	3	1	328	1	0	0	0	0	1	0	0	0	15549	1174	41	2	227	2	SYNPO2L	10	75406700	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1867503	75406700	60128047	1321	59535											
SEC24C	9632	broad.mit.edu	37	chr10	75530092	75530092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagttcgagcctctgaaGagcgtctaagcaatggggat	11	8	13	9	2	2	2	0	1	2	1	3	4	2	3	1	2	4	3	1	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:75530092G>A	ENST00000339365.2	+	22	3079	c.2917G>A	c.(2917-2919)Gag>Aag	p.E973K	SEC24C_ENST00000540668.1_Missense_Mutation_p.E221K|SEC24C_ENST00000535742.1_Missense_Mutation_p.E221K|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000345254.4_Missense_Mutation_p.E973K|SEC24C_ENST00000411652.2_Missense_Mutation_p.E854K	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	973					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AGCCTCTGAAGAGCGTCTAAG	0.493													118	152					0	0	0	0	A	75530092	G	A	75530092	3	1	328	1	0	0	0	0	1	0	0	0	14083	943	33	2	2995	2	SEC24C	10	75530092	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	123392	75530092	60004655	1322	59536											
KCNMA1	3778	broad.mit.edu	37	chr10	78778840	78778840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttggatcttaagatggtttCcaggattaattaatatactg	12	16	8	5	0	1	1	0	0	1	1	2	3	2	3	1	3	1	1	1	3	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:78778840C>T	ENST00000286627.5	-	17	2898	c.1946G>A	c.(1945-1947)gGa>gAa	p.G649E	KCNMA1_ENST00000354353.5_Missense_Mutation_p.G649E|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G649E|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G649E|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G649E|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G653E|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G649E|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G649E	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	649					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AAGATGGTTTCCAGGATTAAT	0.348													6	31					0	0	0	0	T	78778840	C	T	78778840	3	4	328	1	0	0	0	0	1	0	0	0	8126	855	30	2	1968	2	KCNMA1	10	78778840	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3248748	78778840	56755907	1323	59537											
DLG5	9231	broad.mit.edu	37	chr10	79589166	79589166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaccaccttcccacccaggGacttcctccgccgcacgacc	7	6	7	21	3	0	1	0	1	0	0	3	3	3	2	8	1	0	1	8	1	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:79589166G>A	ENST00000372391.2	-	12	2137	c.2132C>T	c.(2131-2133)tCc>tTc	p.S711F	DLG5_ENST00000372388.2_Missense_Mutation_p.S711F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	711	PDZ 2.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCCACCCAGGGACTTCCTCCG	0.607													46	96					0	0	0	0	A	79589166	G	A	79589166	3	1	328	1	0	0	0	0	1	0	0	0	4595	1174	41	2	3711	2	DLG5	10	79589166	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	810326	79589166	55945581	1324	59538											
ZMIZ1	57178	broad.mit.edu	37	chr10	81049555	81049555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtcgttcccctatgactCtgtcccttggcagcagaaca	7	11	10	13	1	1	2	0	1	1	1	4	2	3	2	3	2	2	3	3	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81049555C>T	ENST00000334512.5	+	9	1021	c.449C>T	c.(448-450)tCt>tTt	p.S150F	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	150					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCTATGACTCTGTCCCTTGG	0.602													30	61					0	0	0	0	T	81049555	C	T	81049555	3	4	328	1	0	0	0	0	1	0	0	0	17791	913	32	2	467	2	ZMIZ1	10	81049555	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1460389	81049555	54485192	1325	59539											
PPIF	10105	broad.mit.edu	37	chr10	81113531	81113531	+	Missense_Mutation	SNP	C	C	T																															cgtcgtgaagaaaatagaatCtttcggctctaagagtggga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81113531C>T	ENST00000225174.3	+	6	628	c.557C>T	c.(556-558)tCt>tTt	p.S186F	PPIF_ENST00000394579.3_3'UTR	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	186	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	AAAATAGAATCTTTCGGCTCT	0.537													36	41					0	0	0	0	T	81113531	C	T	81113531	3	4	328	1	0	0	0	0	1	0	0	0	12399	913	32	2	579	2	PPIF	10	81113531	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	63976	81113531	54421216	1326	59540	593	2									
PPIF	10105	broad.mit.edu	37	chr10	81113532	81113532	+	Silent	SNP	T	T	A																															gtcgtgaagaaaatagaatcTttcggctctaagagtgggag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81113532T>A	ENST00000225174.3	+	6	629	c.558T>A	c.(556-558)tcT>tcA	p.S186S	PPIF_ENST00000394579.3_3'UTR	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	186	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	AAATAGAATCTTTCGGCTCTA	0.537													35	39					0	0	0	0	A	81113532	T	A	81113532	2	1	328	1	0	0	0	0	0	0	0	1	12399	1596	56	5		5	PPIF	10	81113532	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1	81113532	54421215	1327	59541	593	2									
ANXA11	311	broad.mit.edu	37	chr10	81921761	81921761	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactcgtctgttcccaggcgGttctccccggccgcatacag	5	9	11	16	4	2	0	0	0	2	0	5	1	3	0	4	3	1	3	4	3	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81921761G>A	ENST00000438331.1	-	13	1592	c.1110C>T	c.(1108-1110)aaC>aaT	p.N370N	ANXA11_ENST00000372231.3_Silent_p.N370N|ANXA11_ENST00000360615.4_Silent_p.N370N|ANXA11_ENST00000537102.1_Silent_p.N337N|ANXA11_ENST00000535999.1_Silent_p.N370N|ANXA11_ENST00000422982.3_Silent_p.N370N|ANXA11_ENST00000265447.4_Silent_p.N370N	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	370					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TTCCCAGGCGGTTCTCCCCGG	0.652											OREG0020322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	31					0	0	0	0	A	81921761	G	A	81921761	2	1	328	1	0	0	0	0	0	0	0	1	715	1252	44	4		4	ANXA11	10	81921761	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	808229	81921761	53612986	1328	59542											
ANXA11	311	broad.mit.edu	37	chr10	81930561	81930561	+	Missense_Mutation	SNP	C	C	T																															gagagctggactcaccattcCcgagagatagtcctggttga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81930561C>T	ENST00000438331.1	-	5	648	c.166G>A	c.(166-168)Gga>Aga	p.G56R	ANXA11_ENST00000372231.3_Missense_Mutation_p.G56R|ANXA11_ENST00000360615.4_Missense_Mutation_p.G56R|ANXA11_ENST00000537102.1_Missense_Mutation_p.G23R|ANXA11_ENST00000535999.1_Missense_Mutation_p.G56R|ANXA11_ENST00000422982.3_Missense_Mutation_p.G56R|ANXA11_ENST00000265447.4_Missense_Mutation_p.G56R	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	56					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CTCACCATTCCCGAGAGATAG	0.637													24	51					0	0	0	0	T	81930561	C	T	81930561	3	4	328	1	0	0	0	0	1	0	0	0	715	632	22	4	1403	4	ANXA11	10	81930561	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	8800	81930561	53604186	1329	59543	594	2									
ANXA11	311	broad.mit.edu	37	chr10	81930562	81930562	+	Silent	SNP	C	C	T																															agagctggactcaccattccCgagagatagtcctggttgaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81930562C>T	ENST00000438331.1	-	5	647	c.165G>A	c.(163-165)tcG>tcA	p.S55S	ANXA11_ENST00000372231.3_Silent_p.S55S|ANXA11_ENST00000360615.4_Silent_p.S55S|ANXA11_ENST00000537102.1_Silent_p.S22S|ANXA11_ENST00000535999.1_Silent_p.S55S|ANXA11_ENST00000422982.3_Silent_p.S55S|ANXA11_ENST00000265447.4_Silent_p.S55S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	55					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TCACCATTCCCGAGAGATAGT	0.642													24	50					0	0	0	0	T	81930562	C	T	81930562	2	4	328	1	0	0	0	0	0	0	0	1	715	639	23	1		1	ANXA11	10	81930562	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	81930562	53604185	1330	59544	594	2									
CDHR1	92211	broad.mit.edu	37	chr10	85961613	85961613	+	Silent	SNP	C	C	T																															cacagcggtgtgctgcgcctCcaggctggggccactctgga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:85961613C>T	ENST00000372117.3	+	7	679	c.576C>T	c.(574-576)ctC>ctT	p.L192L	CDHR1_ENST00000332904.3_Silent_p.L192L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	192	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TGCTGCGCCTCCAGGCTGGGG	0.617													9	27					0	0	0	0	T	85961613	C	T	85961613	2	4	328	1	0	0	0	0	0	0	0	1	3147	842	30	2		2	CDHR1	10	85961613	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4031051	85961613	49573134	1331	59545	595	2									
CDHR1	92211	broad.mit.edu	37	chr10	85961614	85961614	+	Nonsense_Mutation	SNP	C	C	T																															acagcggtgtgctgcgcctcCaggctggggccactctggac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:85961614C>T	ENST00000372117.3	+	7	680	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	CDHR1_ENST00000332904.3_Nonsense_Mutation_p.Q193*	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	193	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GCTGCGCCTCCAGGCTGGGGC	0.617													9	27					0	0	0	0	T	85961614	C	T	85961614	4	4	328	1	0	0	0	0	0	1	0	0	3147	595	21	4	603	4	CDHR1	10	85961614	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	85961614	49573133	1332	59546	595	2									
LRIT2	340745	broad.mit.edu	37	chr10	85984392	85984392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacccaggggttgtcatgcaGggccaccaccaggctggaga	9	6	14	12	0	1	1	1	0	0	1	1	2	1	1	4	5	2	3	4	5	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:85984392G>A	ENST00000372113.4	-	2	594	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	LRIT2_ENST00000538192.1_Silent_p.L197L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	197						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TTGTCATGCAGGGCCACCACC	0.547													21	37					0	0	0	0	A	85984392	G	A	85984392	2	1	328	1	0	0	0	0	0	0	0	1	9012	991	35	4		4	LRIT2	10	85984392	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	22778	85984392	49550355	1333	59547											
GRID1	2894	broad.mit.edu	37	chr10	87407024	87407024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgttcttgctgatggtccGccagagttcagcaaacgtgc	7	11	11	12	3	2	2	1	1	1	1	4	2	4	2	3	1	4	4	3	1	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:87407024G>A	ENST00000327946.7	-	13	2213	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.R281W	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	710						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGATGGTCCGCCAGAGTTCA	0.572										Multiple Myeloma(13;0.14)			120	143					0	0	0	0	A	87407024	G	A	87407024	3	1	328	1	0	0	0	0	1	0	0	0	6821	1086	38	1	917	1	GRID1	10	87407024	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1422632	87407024	48127723	1334	59548											
LDB3	11155	broad.mit.edu	37	chr10	88441437	88441437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaaaagccctgccgggctCgagccagccgaggcaatata	11	4	11	15	3	0	0	0	0	0	0	1	2	0	0	5	2	4	2	5	2	5	2	rs45487699		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:88441437C>T	ENST00000429277.2	+	5	711	c.566C>T	c.(565-567)tCg>tTg	p.S189L	LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.S189L|LDB3_ENST00000361373.4_Missense_Mutation_p.S189L|LDB3_ENST00000372056.4_Missense_Mutation_p.S189L|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000542786.1_Missense_Mutation_p.S189L|LDB3_ENST00000458213.2_Intron	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	189			S -> L (in CMD1C; dbSNP:rs45487699).			cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTGCCGGGCTCGAGCCAGCCG	0.672													29	41					0	0	0	0	T	88441437	C	T	88441437	3	4	328	1	0	0	0	0	1	0	0	0	8750	893	31	1	580	1	LDB3	10	88441437	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1034413	88441437	47093310	1335	59549											
MINPP1	9562	broad.mit.edu	37	chr10	89312167	89312167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccactacaaggacatcCttcagagttgtcaaaccagt	15	8	7	11	0	2	2	2	0	0	2	3	3	3	3	3	1	3	1	3	1	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:89312167C>A	ENST00000371996.4	+	5	1437	c.1396C>A	c.(1396-1398)Ctt>Att	p.L466I	MINPP1_ENST00000371994.4_3'UTR|MINPP1_ENST00000536010.1_Missense_Mutation_p.L265I|MINPP1_ENST00000472891.1_3'UTR	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	466					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CAAGGACATCCTTCAGAGTTG	0.358													41	58					1.67305e-13	1.69743e-13	1	0	A	89312167	C	A	89312167	3	1	328	1	0	0	0	0	1	0	0	0	9657	681	24	4	1452	4	MINPP1	10	89312167	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	870730	89312167	46222580	1336	59550											
IFIT3	3437	broad.mit.edu	37	chr10	91099088	91099088	+	Missense_Mutation	SNP	G	G	A																															agatgaataaagaagctgaaGgagagcagtttgttgaagaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:91099088G>A	ENST00000371818.4	+	2	856	c.676G>A	c.(676-678)Gga>Aga	p.G226R	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.G226R|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	226					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						AGAAGCTGAAGGAGAGCAGTT	0.443													28	27					0	0	0	0	A	91099088	G	A	91099088	3	1	328	1	0	0	0	0	1	0	0	0	7577	1001	35	4	691	4	IFIT3	10	91099088	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1786921	91099088	44435659	1337	59551	596	2									
IFIT3	3437	broad.mit.edu	37	chr10	91099089	91099089	+	Missense_Mutation	SNP	G	G	A																															gatgaataaagaagctgaagGagagcagtttgttgaagaag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:91099089G>A	ENST00000371818.4	+	2	857	c.677G>A	c.(676-678)gGa>gAa	p.G226E	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.G226E|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	226					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						GAAGCTGAAGGAGAGCAGTTT	0.443													28	27					0	0	0	0	A	91099089	G	A	91099089	3	1	328	1	0	0	0	0	1	0	0	0	7577	1174	41	2	692	2	IFIT3	10	91099089	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	91099089	44435658	1338	59552	596	2									
IFIT5	24138	broad.mit.edu	37	chr10	91177400	91177400	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgagaaaggctgggcactCttgaaatttggaggaaagta	13	10	14	4	0	1	2	0	2	1	1	1	5	1	4	0	4	0	3	0	4	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:91177400C>T	ENST00000371795.4	+	2	657	c.444C>T	c.(442-444)ctC>ctT	p.L148L	IFIT5_ENST00000416601.1_Silent_p.L148L	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	148							binding			endometrium(1)|large_intestine(4)|lung(4)	9						GCTGGGCACTCTTGAAATTTG	0.428													43	55					0	0	0	0	T	91177400	C	T	91177400	2	4	328	1	0	0	0	0	0	0	0	1	7578	900	32	2		2	IFIT5	10	91177400	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	78311	91177400	44357347	1339	59553											
IFIT5	24138	broad.mit.edu	37	chr10	91178121	91178121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggccgctttcaggaatttCaccgtaaatcagaaaatact	14	11	7	9	2	3	1	3	0	0	1	3	2	3	2	2	2	1	2	2	2	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:91178121C>T	ENST00000371795.4	+	2	1378	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y	IFIT5_ENST00000416601.1_Missense_Mutation_p.H341Y	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	389							binding			endometrium(1)|large_intestine(4)|lung(4)	9						TCAGGAATTTCACCGTAAATC	0.428													12	27					0	0	0	0	T	91178121	C	T	91178121	3	4	328	1	0	0	0	0	1	0	0	0	7578	826	29	2	1171	2	IFIT5	10	91178121	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	721	91178121	44356626	1340	59554											
MYOF	26509	broad.mit.edu	37	chr10	95079641	95079641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctcacttttttcgcaacGatacagagttgttcggctgg	8	13	11	9	3	1	1	1	0	0	1	3	3	1	1	0	2	3	5	0	2	2	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:95079641G>A	ENST00000371501.4	-	49	5708	c.5586C>T	c.(5584-5586)atC>atT	p.I1862I	MYOF_ENST00000359263.4_Silent_p.I1862I|MYOF_ENST00000358334.5_Silent_p.I1849I|MYOF_ENST00000371502.4_Silent_p.I1852I			Q9NZM1	MYOF_HUMAN	myoferlin	1862					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTTCGCAACGATACAGAGTT	0.443													23	44					0	0	0	0	A	95079641	G	A	95079641	2	1	328	1	0	0	0	0	0	0	0	1	10159	1048	37	1		1	MYOF	10	95079641	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3901520	95079641	40455106	1341	59555											
PDE6C	5146	broad.mit.edu	37	chr10	95399918	95399918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcacggattgattaaatgtgGaatacgactgttttttgaaa	13	14	10	4	2	0	2	0	2	0	0	0	5	0	4	0	2	1	2	0	2	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:95399918G>A	ENST00000371447.3	+	12	1712	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	525					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				ATTAAATGTGGAATACGACTG	0.413													54	81					0	0	0	0	A	95399918	G	A	95399918	3	1	328	1	0	0	0	0	1	0	0	0	11718	1174	41	2	1620	2	PDE6C	10	95399918	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	320277	95399918	40134829	1342	59556											
PLCE1	51196	broad.mit.edu	37	chr10	96030264	96030264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtggttgaagccattgatCgcagtgccttcatcaactct	10	12	9	10	1	3	2	2	2	1	0	4	2	3	2	2	1	3	2	2	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:96030264C>T	ENST00000260766.3	+	18	5045	c.4411C>T	c.(4411-4413)Cgc>Tgc	p.R1471C	PLCE1_ENST00000371375.1_Missense_Mutation_p.R1163C|PLCE1_ENST00000371380.2_Missense_Mutation_p.R1471C|PLCE1_ENST00000371385.3_Missense_Mutation_p.R1163C	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1471	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGCCATTGATCGCAGTGCCTT	0.448													32	66					0	0	0	0	T	96030264	C	T	96030264	3	4	328	1	0	0	0	0	1	0	0	0	12106	884	31	1	4763	1	PLCE1	10	96030264	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	630346	96030264	39504483	1343	59557											
NOC3L	64318	broad.mit.edu	37	chr10	96093937	96093937	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacttcattcctctactaGtgtagtgatgttttcaaata	10	17	6	8	0	3	2	2	2	1	0	4	2	4	2	1	0	1	2	1	0	5	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:96093937G>A	ENST00000371361.3	-	21	2500	c.2400C>T	c.(2398-2400)caC>caT	p.H800H	NOC3L_ENST00000543788.1_Intron|NOC3L_ENST00000371350.1_Silent_p.H800H	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	800						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TCCTCTACTAGTGTAGTGATG	0.333													16	36					0	0	0	0	A	96093937	G	A	96093937	2	1	328	1	0	0	0	0	0	0	0	1	10584	1020	36	4		4	NOC3L	10	96093937	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	63673	96093937	39440810	1344	59558											
HELLS	3070	broad.mit.edu	37	chr10	96342814	96342814	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtattgcatatgctgcacCaggttttccatgttttctta	8	18	7	8	0	1	0	0	0	1	0	2	0	2	0	2	1	3	6	2	1	3	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:96342814C>T	ENST00000348459.5	+	12	1429	c.1324C>T	c.(1324-1326)Cag>Tag	p.Q442*	HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Intron|HELLS_ENST00000371332.4_Nonsense_Mutation_p.Q442*|RP11-119K6.6_ENST00000432120.1_RNA	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	442					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TATGCTGCACCAGGTTTTCCA	0.378													29	43					0	0	0	0	T	96342814	C	T	96342814	4	4	328	1	0	0	0	0	0	1	0	0	7096	595	21	4	1370	4	HELLS	10	96342814	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	248877	96342814	39191933	1345	59559											
SORBS1	10580	broad.mit.edu	37	chr10	97174427	97174427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccacctctgcagatgaggggGaatgaaatcatctagagtcg	12	8	12	9	1	3	4	1	2	2	2	4	5	3	5	2	2	1	1	2	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:97174427G>A	ENST00000371247.2	-	9	823	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	SORBS1_ENST00000277982.5_Missense_Mutation_p.P212S|SORBS1_ENST00000361941.3_Missense_Mutation_p.P212S|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.P212S|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P212S|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371249.2_Missense_Mutation_p.P180S|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.P203S|SORBS1_ENST00000393949.1_Missense_Mutation_p.P203S			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	212					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGATGAGGGGGAATGAAATCA	0.632													20	39					0	0	0	0	A	97174427	G	A	97174427	3	1	328	1	0	0	0	0	1	0	0	0	15015	1174	41	2	3541	2	SORBS1	10	97174427	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	831613	97174427	38360320	1346	59560											
SORBS1	10580	broad.mit.edu	37	chr10	97194428	97194428	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcactgtcttcacaggaatGattttaacagcagaaataga	15	12	7	7	0	3	3	2	1	1	2	3	4	3	4	0	1	2	1	0	1	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:97194428G>A	ENST00000371247.2	-	5	312	c.123C>T	c.(121-123)atC>atT	p.I41I	SORBS1_ENST00000277982.5_Silent_p.I41I|SORBS1_ENST00000361941.3_Silent_p.I41I|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000371245.3_Silent_p.I41I|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Silent_p.I41I|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Silent_p.I41I|SORBS1_ENST00000306402.6_Silent_p.I41I|SORBS1_ENST00000347291.4_Silent_p.I41I|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000353505.5_Silent_p.I41I|SORBS1_ENST00000354106.3_Silent_p.I41I|SORBS1_ENST00000393949.1_Silent_p.I41I			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	41					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	p.I41I(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TCACAGGAATGATTTTAACAG	0.463													16	51					0	0	0	0	A	97194428	G	A	97194428	2	1	328	1	0	0	0	0	0	0	0	1	15015	1280	45	2		2	SORBS1	10	97194428	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	20001	97194428	38340319	1347	59561											
ENTPD1	953	broad.mit.edu	37	chr10	97583064	97583064	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcctctatcatagctgtGatagctttgcttgctgtggg	5	17	10	9	0	3	1	1	1	2	0	4	1	3	1	1	1	4	4	1	1	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:97583064G>A	ENST00000371207.3	+	2	186	c.123G>A	c.(121-123)gtG>gtA	p.V41V	ENTPD1_ENST00000453258.2_Silent_p.V36V|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1_ENST00000371205.4_Silent_p.V29V|ENTPD1_ENST00000539125.1_5'UTR|ENTPD1_ENST00000543964.1_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000490659.1_3'UTR	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	29					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TCATAGCTGTGATAGCTTTGC	0.403													23	48					0	0	0	0	A	97583064	G	A	97583064	2	1	328	1	0	0	0	0	0	0	0	1	5176	1277	45	2		2	ENTPD1	10	97583064	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	388636	97583064	37951683	1348	59562											
MORN4	118812	broad.mit.edu	37	chr10	99376133	99376133	+	Missense_Mutation	SNP	G	G	A																															aaagagaccttcattgcgggGgattccatgagaaccatcag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:99376133G>A	ENST00000335628.3	-	4	501	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Missense_Mutation_p.P110S			Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	110										large_intestine(1)|lung(1)|stomach(2)	4						TCATTGCGGGGGATTCCATGA	0.498													15	37					0	0	0	0	A	99376133	G	A	99376133	3	1	328	1	0	0	0	0	1	0	0	0	9780	1232	43	4	116	4	MORN4	10	99376133	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1793069	99376133	36158614	1349	59563	597	2									
MORN4	118812	broad.mit.edu	37	chr10	99376134	99376134	+	Silent	SNP	G	G	A																															aagagaccttcattgcggggGattccatgagaaccatcagg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:99376134G>A	ENST00000335628.3	-	4	500	c.501C>T	c.(499-501)atC>atT	p.I167I	MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Silent_p.I109I			Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	109										large_intestine(1)|lung(1)|stomach(2)	4						CATTGCGGGGGATTCCATGAG	0.502													16	38					0	0	0	0	A	99376134	G	A	99376134	2	1	328	1	0	0	0	0	0	0	0	1	9780	1164	41	2		2	MORN4	10	99376134	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	99376134	36158613	1350	59564	597	2									
CRTAC1	55118	broad.mit.edu	37	chr10	99655718	99655718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgaggtccagcatcccgtctCcgtcgaagtcggtcaccaca	8	8	10	15	4	2	1	1	1	1	0	7	2	4	1	4	2	1	1	4	2	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:99655718C>T	ENST00000370597.3	-	10	1596	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	CRTAC1_ENST00000370591.2_Missense_Mutation_p.G414E|CRTAC1_ENST00000298819.4_Missense_Mutation_p.G414E	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	414						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCCCGTCTCCGTCGAAGTC	0.582													16	35					0	0	0	0	T	99655718	C	T	99655718	3	4	328	1	0	0	0	0	1	0	0	0	3926	855	30	2	768	2	CRTAC1	10	99655718	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	279584	99655718	35879029	1351	59565											
HIF1AN	55662	broad.mit.edu	37	chr10	102304787	102304787	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacaaacgatgcatcttattCcctccggatcagttcgagtg	10	12	8	11	3	2	0	1	0	1	0	5	3	4	1	2	1	3	2	2	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102304787C>T	ENST00000299163.5	+	4	757	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	219	Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		GCATCTTATTCCCTCCGGATC	0.453													43	54					0	0	0	0	T	102304787	C	T	102304787	2	4	328	1	0	0	0	0	0	0	0	1	7154	854	30	2		2	HIF1AN	10	102304787	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2649069	102304787	33229960	1352	59566											
PAX2	5076	broad.mit.edu	37	chr10	102566317	102566317	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtctttgagcgtccttcCtaccctgacgtcttccaggc	4	12	10	15	3	2	2	0	2	2	0	5	2	5	2	4	2	2	0	4	2	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102566317C>T	ENST00000370296.2	+	7	1366	c.816C>T	c.(814-816)tcC>tcT	p.S272S	PAX2_ENST00000355243.3_Silent_p.S249S|PAX2_ENST00000428433.1_Silent_p.S272S|PAX2_ENST00000361791.3_Silent_p.S249S|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000556085.1_Silent_p.S248S			Q02962	PAX2_HUMAN	paired box 2	272					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGCGTCCTTCCTACCCTGACG	0.552													81	155					0	0	0	0	T	102566317	C	T	102566317	2	4	328	1	0	0	0	0	0	0	0	1	11550	668	24	4		4	PAX2	10	102566317	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	261530	102566317	32968430	1353	59567											
FAM178A	55719	broad.mit.edu	37	chr10	102684486	102684486	+	Silent	SNP	C	C	T																															gcagcaccttcagataaagcCccttcagaaggagagagttc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102684486C>T	ENST00000238961.3	+	5	1876	c.1728C>T	c.(1726-1728)gcC>gcT	p.A576A	FAM178A_ENST00000370271.3_Silent_p.A576A|FAM178A_ENST00000370269.3_Silent_p.A576A	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	576																	CAGATAAAGCCCCTTCAGAAG	0.463													19	45					0	0	0	0	T	102684486	C	T	102684486	2	4	328	1	0	0	0	0	0	0	0	1	5544	610	22	4		4	FAM178A	10	102684486	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	118169	102684486	32850261	1354	59568	598	2									
FAM178A	55719	broad.mit.edu	37	chr10	102684487	102684487	+	Missense_Mutation	SNP	C	C	T																															cagcaccttcagataaagccCcttcagaaggagagagttca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102684487C>T	ENST00000238961.3	+	5	1877	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	FAM178A_ENST00000370271.3_Missense_Mutation_p.P577S|FAM178A_ENST00000370269.3_Missense_Mutation_p.P577S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	577																	AGATAAAGCCCCTTCAGAAGG	0.458													19	44					0	0	0	0	T	102684487	C	T	102684487	3	4	328	1	0	0	0	0	1	0	0	0	5544	623	22	4	1747	4	FAM178A	10	102684487	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	102684487	32850260	1355	59569	598	2									
SEMA4G	57715	broad.mit.edu	37	chr10	102739907	102739907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agattcattgcgcagccaagGctacaattcatcccaagact	13	9	7	12	1	2	2	2	0	0	2	3	2	3	2	2	1	3	2	2	1	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102739907G>A	ENST00000210633.3	+	10	1235	c.1157G>A	c.(1156-1158)gGc>gAc	p.G386D	MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.G386D|SEMA4G_ENST00000517724.1_Missense_Mutation_p.G386D|MRPL43_ENST00000370241.3_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	386	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CGCAGCCAAGGCTACAATTCA	0.602													25	29					0	0	0	0	A	102739907	G	A	102739907	3	1	328	1	0	0	0	0	1	0	0	0	14123	1203	42	4	1195	4	SEMA4G	10	102739907	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	55420	102739907	32794840	1356	59570											
LZTS2	84445	broad.mit.edu	37	chr10	102762580	102762580	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acctacatcaatgaggacttCcggacagagtcaccccccag	12	6	8	15	1	2	2	2	1	0	1	3	4	3	4	5	2	1	0	5	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102762580C>T	ENST00000370220.1	+	1	3348	c.285C>T	c.(283-285)ttC>ttT	p.F95F	LZTS2_ENST00000370223.3_Silent_p.F95F			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	95	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		ATGAGGACTTCCGGACAGAGT	0.627													16	33					0	0	0	0	T	102762580	C	T	102762580	2	4	328	1	0	0	0	0	0	0	0	1	9204	854	30	2		2	LZTS2	10	102762580	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	22673	102762580	32772167	1357	59571											
LZTS2	84445	broad.mit.edu	37	chr10	102763321	102763321	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagtgctgcccaaacctCgaggggctccgtccctgcct	6	7	11	17	2	0	0	0	0	0	0	3	1	2	0	6	2	5	2	6	2	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102763321C>T	ENST00000370220.1	+	2	3529	c.466C>T	c.(466-468)Cga>Tga	p.R156*	LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R156*			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	156	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCCCAAACCTCGAGGGGCTCC	0.622													48	73					0	0	0	0	T	102763321	C	T	102763321	4	4	328	1	0	0	0	0	0	1	0	0	9204	876	31	1	472	1	LZTS2	10	102763321	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	741	102763321	32771426	1358	59572											
GBF1	8729	broad.mit.edu	37	chr10	104136133	104136133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acactgaccatggcaggccgGgcaagatacaccgatcagcc	12	4	11	14	2	1	2	1	1	0	1	1	3	1	2	4	3	2	2	4	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:104136133G>A	ENST00000369983.3	+	31	4248	c.3988G>A	c.(3988-3990)Ggc>Agc	p.G1330S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1330					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)		TGGCAGGCCGGGCAAGATACA	0.537													43	68					0	0	0	0	A	104136133	G	A	104136133	3	1	328	1	0	0	0	0	1	0	0	0	6320	1232	43	4	4106	4	GBF1	10	104136133	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1372812	104136133	31398614	1359	59573											
NFKB2	4791	broad.mit.edu	37	chr10	104158035	104158035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctttggggacttctctcCcacagatgtgcataaacagg	9	10	11	11	0	1	1	0	0	1	1	3	2	2	2	2	4	2	1	2	4	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:104158035C>T	ENST00000369966.3	+	10	1083	c.833C>T	c.(832-834)cCc>cTc	p.P278L	NFKB2_ENST00000428099.1_Missense_Mutation_p.P278L|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000189444.6_Missense_Mutation_p.P278L	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	278	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		GACTTCTCTCCCACAGATGTG	0.562			T	IGH@	B-NHL								39	73					0	0	0	0	T	104158035	C	T	104158035	3	4	328	1	0	0	0	0	1	0	0	0	10446	623	22	4	867	4	NFKB2	10	104158035	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	21902	104158035	31376712	1360	59574											
OBFC1	79991	broad.mit.edu	37	chr10	105657400	105657400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggtaaaagctctgcactCtgttctccatgaggaattct	9	13	9	10	0	4	1	0	1	4	0	5	2	4	2	1	2	2	5	1	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:105657400C>G	ENST00000224950.3	-	7	826	c.659G>C	c.(658-660)aGa>aCa	p.R220T	OBFC1_ENST00000369764.1_Missense_Mutation_p.R220T|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	220					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GCTCTGCACTCTGTTCTCCAT	0.517													34	72					0	0	0	0	G	105657400	C	G	105657400	3	3	328	1	0	0	0	0	1	0	0	0	10878	913	32	2	463	2	OBFC1	10	105657400	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1499365	105657400	29877347	1361	59575											
COL17A1	1308	broad.mit.edu	37	chr10	105801294	105801294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaccttgtaaattaagaaCttctatagagagaagaaaat	18	10	9	4	0	1	4	0	0	1	4	1	6	1	5	1	1	1	1	1	1	9	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:105801294C>T	ENST00000353479.5	-	37	2844	c.2554G>A	c.(2554-2556)Gtt>Att	p.V852I	COL17A1_ENST00000369733.3_Missense_Mutation_p.V852I	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	852	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAATTAAGAACTTCTATAGAG	0.542													12	16					0	0	0	0	T	105801294	C	T	105801294	3	4	328	1	0	0	0	0	1	0	0	0	3704	565	20	4	2019	4	COL17A1	10	105801294	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	143894	105801294	29733453	1362	59576											
CCDC147	159686	broad.mit.edu	37	chr10	106118284	106118284	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgatggccaaatgcagAgagctaaatgcagagattgt	13	9	12	7	1	1	3	0	1	1	2	1	5	1	3	1	1	3	3	1	1	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:106118284A>G	ENST00000369704.3	+	2	329	c.195A>G	c.(193-195)agA>agG	p.R65R	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	65										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CCAAATGCAGAGAGCTAAATG	0.428													18	34					0	0	0	0	G	106118284	A	G	106118284	2	3	328	1	0	0	0	0	0	0	0	1	2806	301	11	5		5	CCDC147	10	106118284	Silent	SNP	A	TCGA-CV-7568-01A-11D-2229-08	316990	106118284	29416463	1363	59577											
SORCS3	22986	broad.mit.edu	37	chr10	106937929	106937929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatggagacccacatcatGacgtgagtacttcttttgct	10	12	10	9	1	2	3	1	2	1	1	2	5	2	4	1	2	2	2	1	2	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:106937929G>A	ENST00000369701.3	+	14	2234	c.2007G>A	c.(2005-2007)atG>atA	p.M669I	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	669						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCCACATCATGACGTGAGTAC	0.493													20	26					0	0	0	0	A	106937929	G	A	106937929	3	1	328	1	0	0	0	0	1	0	0	0	15020	1290	45	2	2061	2	SORCS3	10	106937929	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	819645	106937929	28596818	1364	59578											
SORCS1	114815	broad.mit.edu	37	chr10	108431074	108431074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttgcatacacttccgctCtgattttcgcttcttatata	7	18	4	12	2	2	1	0	1	2	0	5	1	4	1	2	0	2	3	2	0	4	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:108431074C>T	ENST00000263054.6	-	16	2117	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K	SORCS1_ENST00000344440.6_Missense_Mutation_p.E704K|SORCS1_ENST00000369698.1_Missense_Mutation_p.E239K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	704						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CACTTCCGCTCTGATTTTCGC	0.438													44	63					0	0	0	0	T	108431074	C	T	108431074	3	4	328	1	0	0	0	0	1	0	0	0	15018	922	32	2	1674	2	SORCS1	10	108431074	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1493145	108431074	27103673	1365	59579											
GPAM	57678	broad.mit.edu	37	chr10	113924290	113924290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctacaaattttaccttgaagGaagtatagctggtaacaacg	15	11	8	7	1	0	1	0	1	0	0	0	2	0	2	1	2	5	3	1	2	9	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:113924290G>A	ENST00000348367.4	-	13	1497	c.1300C>T	c.(1300-1302)Cct>Tct	p.P434S	GPAM_ENST00000423155.1_Missense_Mutation_p.P434S|GPAM_ENST00000369425.1_Missense_Mutation_p.P434S			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	434					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TACCTTGAAGGAAGTATAGCT	0.358													17	21					0	0	0	0	A	113924290	G	A	113924290	3	1	328	1	0	0	0	0	1	0	0	0	6637	1174	41	2	1226	2	GPAM	10	113924290	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5493216	113924290	21610457	1366	59580											
HABP2	3026	broad.mit.edu	37	chr10	115338533	115338533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggatgctgaaacccatgGgattggggaacacaatttct	12	9	13	7	0	1	1	0	1	1	0	1	5	1	5	1	5	3	1	1	5	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:115338533G>A	ENST00000351270.3	+	7	812	c.716G>A	c.(715-717)gGg>gAg	p.G239E	HABP2_ENST00000542051.1_Missense_Mutation_p.G213E|HABP2_ENST00000537906.1_3'UTR|HABP2_ENST00000541666.1_Missense_Mutation_p.G239E	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	239	Kringle.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GAAACCCATGGGATTGGGGAA	0.408													27	55					0	0	0	0	A	115338533	G	A	115338533	3	1	328	1	0	0	0	0	1	0	0	0	6988	1232	43	4	742	4	HABP2	10	115338533	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1414243	115338533	20196214	1367	59581											
TDRD1	56165	broad.mit.edu	37	chr10	115973130	115973130	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagccatcattaggaatttgGactccagaagctatttgtct	12	13	8	8	0	2	1	1	0	1	1	3	3	3	3	2	2	2	1	2	2	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:115973130G>A	ENST00000251864.2	+	15	2010	c.1857G>A	c.(1855-1857)tgG>tgA	p.W619*	TDRD1_ENST00000422662.1_Nonsense_Mutation_p.W223*|TDRD1_ENST00000369280.1_Nonsense_Mutation_p.W619*|TDRD1_ENST00000369282.1_Nonsense_Mutation_p.W619*|TDRD1_ENST00000369281.2_Nonsense_Mutation_p.W562*	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	619					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TAGGAATTTGGACTCCAGAAG	0.353													27	52					0	0	0	0	A	115973130	G	A	115973130	4	1	328	1	0	0	0	0	0	1	0	0	15824	1183	41	2	1911	2	TDRD1	10	115973130	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	634597	115973130	19561617	1368	59582											
AFAP1L2	84632	broad.mit.edu	37	chr10	116060388	116060388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgaggtccaggtacactCggtcagattctctctcattt	7	14	10	10	1	3	2	2	1	2	1	7	2	4	2	1	3	1	1	1	3	1	3	rs17852236		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:116060388C>T	ENST00000369271.3	-	14	1904	c.1604G>A	c.(1603-1605)cGa>cAa	p.R535Q	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.R588Q|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.R535Q	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	535					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CAGGTACACTCGGTCAGATTC	0.577													23	36					0	0	0	0	T	116060388	C	T	116060388	3	4	328	1	0	0	0	0	1	0	0	0	355	884	31	1	876	1	AFAP1L2	10	116060388	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	87258	116060388	19474359	1369	59583											
ABLIM1	3983	broad.mit.edu	37	chr10	116207689	116207689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggtccgtctcaatctttGgtgtctcgctggggtctggt	3	15	14	9	2	4	0	1	0	4	0	7	0	5	0	1	5	0	1	1	5	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:116207689G>A	ENST00000533213.2	-	15	1806	c.1505C>T	c.(1504-1506)cCa>cTa	p.P502L	ABLIM1_ENST00000277895.5_Missense_Mutation_p.P562L|ABLIM1_ENST00000369253.2_Missense_Mutation_p.P185L|ABLIM1_ENST00000369266.3_Missense_Mutation_p.P239L|ABLIM1_ENST00000369252.4_Missense_Mutation_p.P502L|ABLIM1_ENST00000392952.3_Missense_Mutation_p.P239L			O14639	ABLM1_HUMAN	actin binding LIM protein 1	562					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTCAATCTTTGGTGTCTCGCT	0.547													30	50					0	0	0	0	A	116207689	G	A	116207689	3	1	328	1	0	0	0	0	1	0	0	0	94	1348	47	4	683	4	ABLIM1	10	116207689	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	147301	116207689	19327058	1370	59584											
GFRA1	2674	broad.mit.edu	37	chr10	117884974	117884974	+	Silent	SNP	G	G	A																															gacacgctggtggtgcacggGgtgatgtacgccgacctgta																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:117884974G>A	ENST00000439649.3	-	5	880	c.513C>T	c.(511-513)acC>acT	p.T171T	GFRA1_ENST00000355422.6_Silent_p.T176T|GFRA1_ENST00000369236.1_Silent_p.T171T|GFRA1_ENST00000544592.1_Silent_p.T55T	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	176					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGGTGCACGGGGTGATGTACG	0.587													19	36					0	0	0	0	A	117884974	G	A	117884974	2	1	328	1	0	0	0	0	0	0	0	1	6398	1219	43	4		4	GFRA1	10	117884974	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1677285	117884974	17649773	1371	59585	599	2									
GFRA1	2674	broad.mit.edu	37	chr10	117884975	117884975	+	Missense_Mutation	SNP	G	G	A																															acacgctggtggtgcacgggGtgatgtacgccgacctgtac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:117884975G>A	ENST00000439649.3	-	5	879	c.512C>T	c.(511-513)aCc>aTc	p.T171I	GFRA1_ENST00000355422.6_Missense_Mutation_p.T176I|GFRA1_ENST00000369236.1_Missense_Mutation_p.T171I|GFRA1_ENST00000544592.1_Missense_Mutation_p.T55I	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	176					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGTGCACGGGGTGATGTACGC	0.582													19	36					0	0	0	0	A	117884975	G	A	117884975	3	1	328	1	0	0	0	0	1	0	0	0	6398	1261	44	4	894	4	GFRA1	10	117884975	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	117884975	17649772	1372	59586	599	2									
VAX1	11023	broad.mit.edu	37	chr10	118897432	118897432	+	Missense_Mutation	SNP	C	C	T																															tgagaaggcgccctgcggctCcttgaggaaggcggctggga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:118897432C>T	ENST00000277905.2	-	1	380	c.136G>A	c.(136-138)Gag>Aag	p.E46K	VAX1_ENST00000369206.5_Missense_Mutation_p.E46K	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	46						nucleus	sequence-specific DNA binding	p.E46K(1)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCCTGCGGCTCCTTGAGGAAG	0.647													30	56					0	0	0	0	T	118897432	C	T	118897432	3	4	328	1	0	0	0	0	1	0	0	0	17230	864	30	2	1020	2	VAX1	10	118897432	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1012457	118897432	16637315	1373	59587	600	2									
VAX1	11023	broad.mit.edu	37	chr10	118897433	118897433	+	Silent	SNP	C	C	T																															gagaaggcgccctgcggctcCttgaggaaggcggctgggag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:118897433C>T	ENST00000277905.2	-	1	379	c.135G>A	c.(133-135)aaG>aaA	p.K45K	VAX1_ENST00000369206.5_Silent_p.K45K	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	45						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCTGCGGCTCCTTGAGGAAGG	0.652													30	58					0	0	0	0	T	118897433	C	T	118897433	2	4	328	1	0	0	0	0	0	0	0	1	17230	680	24	4		4	VAX1	10	118897433	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	118897433	16637314	1374	59588	600	2									
RAB11FIP2	22841	broad.mit.edu	37	chr10	119799986	119799986	+	Silent	SNP	G	G	A																															gataagtcaaacatacttgcGgtcatattgttcctcataaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:119799986G>A	ENST00000355624.3	-	2	883	c.444C>T	c.(442-444)acC>acT	p.T148T	RP11-354M20.3_ENST00000417968.3_RNA|RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.T148T	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	148					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	p.T148T(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		ACATACTTGCGGTCATATTGT	0.338													19	33					0	0	0	0	A	119799986	G	A	119799986	2	1	328	1	0	0	0	0	0	0	0	1	12976	1103	39	1		1	RAB11FIP2	10	119799986	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	902553	119799986	15734761	1375	59589	601	2									
RAB11FIP2	22841	broad.mit.edu	37	chr10	119799987	119799987	+	Missense_Mutation	SNP	G	G	A																															ataagtcaaacatacttgcgGtcatattgttcctcataaac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:119799987G>A	ENST00000355624.3	-	2	882	c.443C>T	c.(442-444)aCc>aTc	p.T148I	RP11-354M20.3_ENST00000417968.3_RNA|RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.T148I	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	148					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		CATACTTGCGGTCATATTGTT	0.333													19	32					0	0	0	0	A	119799987	G	A	119799987	3	1	328	1	0	0	0	0	1	0	0	0	12976	1261	44	4	1111	4	RAB11FIP2	10	119799987	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	119799987	15734760	1376	59590	601	2									
SEC23IP	11196	broad.mit.edu	37	chr10	121671613	121671613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggggcaccacgcaagatGgacagacaaggcccagggtt	13	4	14	10	1	0	2	0	0	0	2	0	3	0	3	2	5	0	3	2	5	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:121671613G>A	ENST00000369075.3	+	6	1321	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	SEC23IP_ENST00000543134.1_Missense_Mutation_p.G206R	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	417					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CACGCAAGATGGACAGACAAG	0.433													53	74					0	0	0	0	A	121671613	G	A	121671613	3	1	328	1	0	0	0	0	1	0	0	0	14080	1349	47	4	1271	4	SEC23IP	10	121671613	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1871626	121671613	13863134	1377	59591											
WDR11	55717	broad.mit.edu	37	chr10	122630711	122630711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caattgctggggaagaacatCccagaggttcaattctgcgg	11	9	12	9	1	2	2	1	0	1	2	3	3	3	3	1	4	3	2	1	4	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:122630711C>T	ENST00000263461.6	+	10	1570	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	442						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GGAAGAACATCCCAGAGGTTC	0.423													18	22					0	0	0	0	T	122630711	C	T	122630711	3	4	328	1	0	0	0	0	1	0	0	0	17369	855	30	2	1362	2	WDR11	10	122630711	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	959098	122630711	12904036	1378	59592											
FAM24B	196792	broad.mit.edu	37	chr10	124608807	124608807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcaaggtggcagggaatCaaaactggcacacattctat	15	7	10	9	0	2	0	1	0	1	0	2	1	2	1	0	4	2	3	0	4	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:124608807C>T	ENST00000368898.3	-	4	531	c.241G>A	c.(241-243)Gat>Aat	p.D81N	FAM24B_ENST00000368896.1_Missense_Mutation_p.D81N|FAM24B_ENST00000462859.1_5'UTR|CUZD1_ENST00000545804.1_Intron|CUZD1_ENST00000368904.1_5'UTR	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	81						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		GGCAGGGAATCAAAACTGGCA	0.483													31	47					0	0	0	0	T	124608807	C	T	124608807	3	4	328	1	0	0	0	0	1	0	0	0	5592	826	29	2	47	2	FAM24B	10	124608807	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1978096	124608807	10925940	1379	59593											
CTBP2	1488	broad.mit.edu	37	chr10	126681372	126681372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaatttcttaagctttctGggatgcgacctagggtaaga	11	12	10	8	1	2	1	0	0	2	1	2	3	2	2	1	2	2	2	1	2	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:126681372G>A	ENST00000309035.6	-	8	2799	c.2669C>T	c.(2668-2670)cCa>cTa	p.P890L	CTBP2_ENST00000334808.6_Missense_Mutation_p.P418L|CTBP2_ENST00000531469.1_Missense_Mutation_p.P350L|CTBP2_ENST00000337195.5_Missense_Mutation_p.P350L|CTBP2_ENST00000411419.2_Missense_Mutation_p.P350L|CTBP2_ENST00000494626.2_Missense_Mutation_p.P350L	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	350					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TAAGCTTTCTGGGATGCGACC	0.383											OREG0020609	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	12					0	0	0	0	A	126681372	G	A	126681372	3	1	328	1	0	0	0	0	1	0	0	0	4030	1348	47	4	296	4	CTBP2	10	126681372	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2072565	126681372	8853375	1380	59594											
CTBP2	1488	broad.mit.edu	37	chr10	126715138	126715138	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgagccgggtctccagctcgGggggatgctgtctgcagagg	5	7	18	11	3	2	1	0	0	2	1	4	3	2	2	2	5	4	3	2	5	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:126715138G>A	ENST00000309035.6	-	1	1321	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTCCAGCTCGGGGGGATGCTG	0.687													3	5					0	0	0	0	A	126715138	G	A	126715138	2	1	328	1	0	0	0	0	0	0	0	1	4030	1219	43	4		4	CTBP2	10	126715138	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	33766	126715138	8819609	1381	59595											
CTBP2	1488	broad.mit.edu	37	chr10	126715548	126715548	+	Missense_Mutation	SNP	G	G	A																															cttggatgggatgctttcccGggcaggcccgtagccacgat																								rs149172507	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:126715548G>A	ENST00000309035.6	-	1	911	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	414					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ATGCTTTCCCGGGCAGGCCCG	0.647													30	46					0	0	0	0	A	126715548	G	A	126715548	3	1	328	1	0	0	0	0	1	0	0	0	4030	1115	39	1	2212	1	CTBP2	10	126715548	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	410	126715548	8819199	1382	59596	602	2									
CTBP2	1488	broad.mit.edu	37	chr10	126715549	126715549	+	Silent	SNP	G	G	A																															ttggatgggatgctttcccgGgcaggcccgtagccacgatt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:126715549G>A	ENST00000309035.6	-	1	910	c.780C>T	c.(778-780)gcC>gcT	p.A260A	CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	413					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TGCTTTCCCGGGCAGGCCCGT	0.647													29	44					0	0	0	0	A	126715549	G	A	126715549	2	1	328	1	0	0	0	0	0	0	0	1	4030	1219	43	4		4	CTBP2	10	126715549	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	126715549	8819198	1383	59597	602	2									
C10orf90	118611	broad.mit.edu	37	chr10	128147687	128147687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcttctgcctcaggtcctCcttccgctgggctttcctct	1	15	8	17	1	3	0	1	0	2	0	7	0	7	0	5	2	2	3	5	2	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:128147687C>T	ENST00000284694.7	-	6	1939	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	C10orf90_ENST00000544758.1_Missense_Mutation_p.E704K|C10orf90_ENST00000454341.1_Missense_Mutation_p.E510K|C10orf90_ENST00000480379.1_Missense_Mutation_p.E11K|C10orf90_ENST00000356858.3_Missense_Mutation_p.E560K	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	607										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCAGGTCCTCCTTCCGCTGG	0.552													32	55					0	0	0	0	T	128147687	C	T	128147687	3	4	328	1	0	0	0	0	1	0	0	0	1633	864	30	2	296	2	C10orf90	10	128147687	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1432138	128147687	7387060	1384	59598											
DOCK1	1793	broad.mit.edu	37	chr10	128822988	128822988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtgatgaagcgatttcaGagtacaaatctgtgatttac	12	13	10	6	1	2	4	1	3	1	1	2	5	2	4	0	1	3	1	0	1	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:128822988G>A	ENST00000280333.6	+	15	1538	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	477	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGCGATTTCAGAGTACAAATC	0.398													5	8					0	0	0	0	A	128822988	G	A	128822988	3	1	328	1	0	0	0	0	1	0	0	0	4720	943	33	2	1487	2	DOCK1	10	128822988	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	675301	128822988	6711759	1385	59599											
PAOX	196743	broad.mit.edu	37	chr10	135195063	135195063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atccactggaacgggtccttCcaggaggcagcctttcccgg	7	8	12	14	2	0	0	0	0	0	0	4	2	4	2	5	5	2	1	5	5	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:135195063C>T	ENST00000278060.5	+	3	851	c.768C>T	c.(766-768)ttC>ttT	p.F256F	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.F256F|PAOX_ENST00000480071.2_Silent_p.F256F|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	394					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACGGGTCCTTCCAGGAGGCAG	0.587													24	36					0	0	0	0	T	135195063	C	T	135195063	2	4	328	1	0	0	0	0	0	0	0	1	11494	854	30	2		2	PAOX	10	135195063	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6372075	135195063	339684	1386	59600											
SYCE1	93426	broad.mit.edu	37	chr10	135369531	135369531	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccagggcacaaatctcCtttgccagccgctctggcat	7	10	9	15	1	2	0	0	0	2	0	4	0	3	0	4	2	2	3	4	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:135369531C>T	ENST00000368517.3	-	9	579	c.441G>A	c.(439-441)aaG>aaA	p.K147K	SYCE1_ENST00000343131.5_Silent_p.K183K|SYCE1_ENST00000432597.2_Silent_p.K147K|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	183					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CACAAATCTCCTTTGCCAGCC	0.557													39	50					0	0	0	0	T	135369531	C	T	135369531	2	4	328	1	0	0	0	0	0	0	0	1	15518	680	24	4		4	SYCE1	10	135369531	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	174468	135369531	165216	1387	59601											
NLRP6	171389	broad.mit.edu	37	chr11	280493	280493	+	Silent	SNP	C	C	A																															cgcagcctggctgacctgatCctggaccagtgccccgaccg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:280493C>A	ENST00000534750.1	+	4	964	c.759C>A	c.(757-759)atC>atA	p.I253I	NLRP6_ENST00000312165.5_Silent_p.I253I	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	253	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGACCTGATCCTGGACCAGT	0.731													8	11					0.000442599	0.000443662	1	0	A	280493	C	A	280493	2	1	328	1	0	0	0	0	0	0	0	1	10551	845	30	2		2	NLRP6	11	280493	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08		280493	134726023	1388	59602	603	2									
NLRP6	171389	broad.mit.edu	37	chr11	280494	280494	+	Silent	SNP	C	C	T																															gcagcctggctgacctgatcCtggaccagtgccccgaccgc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:280494C>T	ENST00000534750.1	+	4	965	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	NLRP6_ENST00000312165.5_Silent_p.L254L	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	254	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGACCTGATCCTGGACCAGTG	0.726													8	10					0	0	0	0	T	280494	C	T	280494	2	4	328	1	0	0	0	0	0	0	0	1	10551	680	24	4		4	NLRP6	11	280494	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	280494	134726022	1389	59603	603	2									
HRAS	3265	broad.mit.edu	37	chr11	533830	533830	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacacacacaggaagccctCcccggtgcgcatgtactggt	11	6	10	14	2	0	0	0	0	0	0	1	1	1	1	3	3	4	2	3	3	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:533830C>A	ENST00000417302.1	-	3	413	c.226G>T	c.(226-228)Gag>Tag	p.E76*	HRAS_ENST00000311189.7_Nonsense_Mutation_p.E76*|HRAS_ENST00000397594.1_Nonsense_Mutation_p.E76*|HRAS_ENST00000397596.2_Nonsense_Mutation_p.E76*|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Nonsense_Mutation_p.E76*	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	76					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	AGGAAGCCCTCCCCGGTGCGC	0.617		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			35	64					9.04072e-19	9.2201e-19	1	0	A	533830	C	A	533830	4	1	328	1	0	0	0	0	0	1	0	0	7398	864	30	2	422	2	HRAS	11	533830	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	253336	533830	134472686	1390	59604											
CDHR5	53841	broad.mit.edu	37	chr11	618799	618799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttggtgggaggtgctggttCccatactggggggcatcggc	4	10	19	8	1	0	0	0	0	0	0	2	1	1	1	1	8	2	4	1	8	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:618799C>T	ENST00000358353.3	-	14	2082	c.1760G>A	c.(1759-1761)gGa>gAa	p.G587E	CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Missense_Mutation_p.G587E			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	587	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGTGCTGGTTCCCATACTGGG	0.667													63	121					0	0	0	0	T	618799	C	T	618799	3	4	328	1	0	0	0	0	1	0	0	0	3151	855	30	2	789	2	CDHR5	11	618799	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	84969	618799	134387717	1391	59605											
CHID1	66005	broad.mit.edu	37	chr11	902274	902274	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgcagccagacgggtgaGatctgtgtgaacttgctccc	8	9	13	11	1	1	3	0	2	1	2	2	4	2	3	2	1	5	3	2	1	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:902274G>A	ENST00000449825.1	-	4	674	c.318C>T	c.(316-318)atC>atT	p.I106I	CHID1_ENST00000454838.2_Silent_p.I131I|CHID1_ENST00000528581.1_Silent_p.I131I|CHID1_ENST00000323578.8_Silent_p.I106I|CHID1_ENST00000323541.7_Silent_p.I136I|CHID1_ENST00000429789.2_Silent_p.I106I|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000436108.2_Silent_p.I106I|CHID1_ENST00000336845.5_Silent_p.I131I	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	106					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		AGACGGGTGAGATCTGTGTGA	0.557													39	46					0	0	0	0	A	902274	G	A	902274	2	1	328	1	0	0	0	0	0	0	0	1	3374	932	33	2		2	CHID1	11	902274	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	283475	902274	134104242	1392	59606											
MUC5B	727897	broad.mit.edu	37	chr11	1248001	1248001	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcaacgtccagctacGccgaggcctagtgggctcca	8	7	12	14	3	1	0	1	0	0	0	3	2	3	1	4	3	3	2	4	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1248001G>C	ENST00000447027.1	+	4	414	c.356G>C	c.(355-357)cGc>cCc	p.R119P	MUC5B_ENST00000529681.1_Missense_Mutation_p.R119P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	119	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTCCAGCTACGCCGAGGCCTA	0.632													6	26					0	0	0	0	C	1248001	G	C	1248001	3	2	328	1	0	0	0	0	1	0	0	0	10049	1087	38	3	370	3	MUC5B	11	1248001	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	345727	1248001	133758515	1393	59607											
MUC5B	727897	broad.mit.edu	37	chr11	1263792	1263792	+	Silent	SNP	G	G	A																															accccagccaccagctccacGgccacgccctcctcaactcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1263792G>A	ENST00000447027.1	+	31	5749	c.5691G>A	c.(5689-5691)acG>acA	p.T1897T	MUC5B_ENST00000529681.1_Silent_p.T1894T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1894	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCTCCACGGCCACGCCCT	0.612													34	65					0	0	0	0	A	1263792	G	A	1263792	2	1	328	1	0	0	0	0	0	0	0	1	10049	1103	39	1		1	MUC5B	11	1263792	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	15791	1263792	133742724	1394	59608	604	2									
MUC5B	727897	broad.mit.edu	37	chr11	1263793	1263793	+	Missense_Mutation	SNP	G	G	A																															ccccagccaccagctccacgGccacgccctcctcaactccg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1263793G>A	ENST00000447027.1	+	31	5750	c.5692G>A	c.(5692-5694)Gcc>Acc	p.A1898T	MUC5B_ENST00000529681.1_Missense_Mutation_p.A1895T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1895	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCCACGGCCACGCCCTC	0.617													34	62					0	0	0	0	A	1263793	G	A	1263793	3	1	328	1	0	0	0	0	1	0	0	0	10049	1203	42	4	5814	4	MUC5B	11	1263793	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	1263793	133742723	1395	59609	604	2									
MUC5B	727897	broad.mit.edu	37	chr11	1266767	1266767	+	Missense_Mutation	SNP	C	C	T																															gtggctggactacagctaccCcatgccggggccctctggcg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1266767C>T	ENST00000447027.1	+	31	8724	c.8666C>T	c.(8665-8667)cCc>cTc	p.P2889L	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2886L|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2886	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TACAGCTACCCCATGCCGGGG	0.677													22	46					0	0	0	0	T	1266767	C	T	1266767	3	4	328	1	0	0	0	0	1	0	0	0	10049	623	22	4	8788	4	MUC5B	11	1266767	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2974	1266767	133739749	1396	59610	605	2									
MUC5B	727897	broad.mit.edu	37	chr11	1266768	1266768	+	Silent	SNP	C	C	T																															tggctggactacagctacccCatgccggggccctctggcgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1266768C>T	ENST00000447027.1	+	31	8725	c.8667C>T	c.(8665-8667)ccC>ccT	p.P2889P	MUC5B_ENST00000529681.1_Silent_p.P2886P|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2886	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGCTACCCCATGCCGGGGC	0.677													23	45					0	0	0	0	T	1266768	C	T	1266768	2	4	328	1	0	0	0	0	0	0	0	1	10049	581	21	4		4	MUC5B	11	1266768	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	1266768	133739748	1397	59611	605	2									
KRTAP5-1	387264	broad.mit.edu	37	chr11	1605991	1605991	+	Silent	SNP	G	G	A																															caagaaccacaggcccccttGgagcacccacaggagccaca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1605991G>A	ENST00000382171.2	-	1	522	c.489C>T	c.(487-489)tcC>tcT	p.S163S	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	163	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGCCCCCTTGGAGCACCCAC	0.652													46	107					0	0	0	0	A	1605991	G	A	1605991	2	1	328	1	0	0	0	0	0	0	0	1	8611	1335	47	4		4	KRTAP5-1	11	1605991	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	339223	1605991	133400525	1398	59612	606	2									
KRTAP5-1	387264	broad.mit.edu	37	chr11	1605992	1605992	+	Missense_Mutation	SNP	G	G	A																															aagaaccacaggcccccttgGagcacccacaggagccacag																								rs60899198		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1605992G>A	ENST00000382171.2	-	1	521	c.488C>T	c.(487-489)tCc>tTc	p.S163F	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	163	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCCCCCTTGGAGCACCCACA	0.652													46	106					0	0	0	0	A	1605992	G	A	1605992	3	1	328	1	0	0	0	0	1	0	0	0	8611	1174	41	2	352	2	KRTAP5-1	11	1605992	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	1605992	133400524	1399	59613	606	2									
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643045	1643045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccccttggaacccccacaGgagacacagccccccttgga	9	4	8	20	0	0	1	0	0	0	1	0	4	0	3	8	3	2	0	8	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1643045G>A	ENST00000399682.1	-	1	323	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	93	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCCCCACAGGAGACACAGC	0.687													12	98					0	0	0	0	A	1643045	G	A	1643045	2	1	328	1	0	0	0	0	0	0	0	1	8616	987	35	4		4	KRTAP5-4	11	1643045	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	37053	1643045	133363471	1400	59614											
ART1	417	broad.mit.edu	37	chr11	3685393	3685393	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttcctcgtggtgagggccTttccagatggtccaggcctc	4	11	14	12	1	0	2	0	1	0	1	5	2	3	2	5	5	0	1	5	5	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:3685393T>A	ENST00000250693.1	+	5	1059	c.958T>A	c.(958-960)Ttt>Att	p.F320I		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	320					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GGTGAGGGCCTTTCCAGATGG	0.597													63	78					0	0	0	0	A	3685393	T	A	3685393	3	1	328	1	0	0	0	0	1	0	0	0	1001	1609	56	5	972	5	ART1	11	3685393	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	2042348	3685393	131321123	1401	59615											
OR52B4	143496	broad.mit.edu	37	chr11	4388762	4388762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggattgtgaagatgccagacCcataaaagaggatgatgatg	15	8	13	5	0	0	6	0	3	0	3	0	8	0	8	2	2	1	0	2	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:4388762C>T	ENST00000408920.2	-	1	854	c.764G>A	c.(763-765)gGg>gAg	p.G255E		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGCCAGACCCATAAAAGAG	0.493													27	56					0	0	0	0	T	4388762	C	T	4388762	3	4	328	1	0	0	0	0	1	0	0	0	11183	623	22	4	184	4	OR52B4	11	4388762	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	703369	4388762	130617754	1402	59616											
TRIM68	55128	broad.mit.edu	37	chr11	4621896	4621896	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccacctcccagtagtgccgGcctgaggagatgcactggct	7	8	12	14	1	0	2	0	1	0	1	2	3	2	2	5	3	2	3	5	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:4621896G>A	ENST00000300747.5	-	7	1357	c.1068C>T	c.(1066-1068)ggC>ggT	p.G356G		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	356	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGTAGTGCCGGCCTGAGGAGA	0.537													10	22					0	0	0	0	A	4621896	G	A	4621896	2	1	328	1	0	0	0	0	0	0	0	1	16636	1190	42	4		4	TRIM68	11	4621896	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	233134	4621896	130384620	1403	59617											
OR51A7	119687	broad.mit.edu	37	chr11	4928829	4928829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catgggcctgtccctctcctCccttcctaccatgttgaggg	4	12	9	16	0	1	1	0	1	1	0	5	1	4	1	6	2	1	1	6	2	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:4928829C>T	ENST00000359350.4	+	1	230	c.230C>T	c.(229-231)tCc>tTc	p.S77F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S77Y(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCTCTCCTCCCTTCCTACC	0.453													41	58					0	0	0	0	T	4928829	C	T	4928829	3	4	328	1	0	0	0	0	1	0	0	0	11159	855	30	2	232	2	OR51A7	11	4928829	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	306933	4928829	130077687	1404	59618											
OR51G1	79324	broad.mit.edu	37	chr11	4945214	4945214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgtagcggtcaatggacatgGataacagaactgatgactcc	13	8	11	9	2	1	3	1	2	0	1	2	5	2	5	1	3	3	1	1	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:4945214G>A	ENST00000321961.2	-	1	423	c.356C>T	c.(355-357)tCc>tTc	p.S119F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGGACATGGATAACAGAAC	0.493													22	37					0	0	0	0	A	4945214	G	A	4945214	3	1	328	1	0	0	0	0	1	0	0	0	11169	1174	41	2	611	2	OR51G1	11	4945214	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	16385	4945214	130061302	1405	59619											
OR51V1	283111	broad.mit.edu	37	chr11	5221712	5221712	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcagtgagggccagcatGgacaggaagtaaaacatagg	15	5	15	6	0	1	1	1	1	0	0	1	3	1	3	1	5	2	2	1	5	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:5221712G>A	ENST00000321255.1	-	1	218	c.219C>T	c.(217-219)tcC>tcT	p.S73S		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCCAGCATGGACAGGAAGT	0.527													31	50					0	0	0	0	A	5221712	G	A	5221712	2	1	328	1	0	0	0	0	0	0	0	1	11178	1335	47	4		4	OR51V1	11	5221712	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	276498	5221712	129784804	1406	59620											
HBG2	3048	broad.mit.edu	37	chr11	5274590	5274590	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcaggggtgaattcttTgccgaaatggattgccaaaa	12	10	10	9	1	2	1	1	1	1	0	2	3	2	2	3	3	2	0	3	3	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:5274590T>A	ENST00000380259.2	-	8	1601	c.361A>T	c.(361-363)Aaa>Taa	p.K121*	HBG2_ENST00000380252.1_Nonsense_Mutation_p.K111*|HBG2_ENST00000336906.4_Nonsense_Mutation_p.K121*					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGAATTCTTTGCCGAAATGG	0.522													26	43					0	0	0	0	A	5274590	T	A	5274590	4	1	328	1	0	0	0	0	0	1	0	0	7033	1821	63	5	86	5	HBG2	11	5274590	Nonsense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	52878	5274590	129731926	1407	59621											
OR51Q1	390061	broad.mit.edu	37	chr11	5443499	5443499	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggacatccctggatttgaGgcctcccacatctggatctc	8	10	9	14	1	2	1	0	1	2	0	5	4	4	4	3	4	0	0	3	4	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:5443499G>A	ENST00000300778.4	+	1	159	c.69G>A	c.(67-69)gaG>gaA	p.E23E	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGATTTGAGGCCTCCCACA	0.507													44	87					0	0	0	0	A	5443499	G	A	5443499	2	1	328	1	0	0	0	0	0	0	0	1	11175	991	35	4		4	OR51Q1	11	5443499	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	168909	5443499	129563017	1408	59622											
OR52L1	338751	broad.mit.edu	37	chr11	6008078	6008078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctaccaggagaaaagaaGgctgggatagcctccagctt	12	7	11	11	0	0	2	0	0	0	2	2	4	2	3	4	3	3	2	4	3	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6008078G>A	ENST00000332249.4	-	1	137	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAAAAGAAGGCTGGGATAG	0.468													12	31					0	0	0	0	A	6008078	G	A	6008078	3	1	328	1	0	0	0	0	1	0	0	0	11196	1000	35	4	910	4	OR52L1	11	6008078	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	564579	6008078	128998438	1409	59623											
OR56B4	196335	broad.mit.edu	37	chr11	6129110	6129110	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtggcagcactggctctcCctgcccctgactctgctcta	5	10	10	16	0	3	1	0	1	3	0	4	2	3	1	3	2	3	4	3	2	1	1	rs142825875		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6129110C>T	ENST00000316529.3	+	1	197	c.102C>T	c.(100-102)tcC>tcT	p.S34S		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGGCTCTCCCTGCCCCTGA	0.502													22	35					0	0	0	0	T	6129110	C	T	6129110	2	4	328	1	0	0	0	0	0	0	0	1	11209	610	22	4		4	OR56B4	11	6129110	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	121032	6129110	128877406	1410	59624											
DCHS1	8642	broad.mit.edu	37	chr11	6653331	6653331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctgtaggtcagacgtcCattgggtcctgagtctcggt	6	11	14	10	2	2	2	1	1	1	1	5	2	4	2	2	4	0	2	2	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6653331C>T	ENST00000299441.3	-	6	3823	c.3412G>A	c.(3412-3414)Gga>Aga	p.G1138R	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1138	Cadherin 11.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCAGACGTCCATTGGGTCCT	0.607													9	15					0	0	0	0	T	6653331	C	T	6653331	3	4	328	1	0	0	0	0	1	0	0	0	4319	603	21	4	6548	4	DCHS1	11	6653331	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	524221	6653331	128353185	1411	59625											
OR10A2	341276	broad.mit.edu	37	chr11	6891406	6891406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctcctggttcccaggctttCctgtagctactgtgcagacc	5	12	9	15	0	0	1	0	0	0	1	3	1	3	1	5	2	3	5	5	2	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6891406C>T	ENST00000307322.4	+	1	483	c.421C>T	c.(421-423)Cct>Tct	p.P141S		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCCAGGCTTTCCTGTAGCTAC	0.542													66	86					0	0	0	0	T	6891406	C	T	6891406	3	4	328	1	0	0	0	0	1	0	0	0	10961	855	30	2	423	2	OR10A2	11	6891406	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	238075	6891406	128115110	1412	59626											
OR10A4	283297	broad.mit.edu	37	chr11	6898760	6898760	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccatcatctacagctcaagGaataaagaagtgaaggctgc	15	7	9	10	0	3	2	2	1	1	1	3	3	3	3	1	2	3	2	1	2	7	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6898760G>A	ENST00000379829.2	+	1	905	c.882G>A	c.(880-882)agG>agA	p.R294R		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAGCTCAAGGAATAAAGAAG	0.493													46	68					0	0	0	0	A	6898760	G	A	6898760	2	1	328	1	0	0	0	0	0	0	0	1	10963	1165	41	2		2	OR10A4	11	6898760	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7354	6898760	128107756	1413	59627											
OR2D3	120775	broad.mit.edu	37	chr11	6942440	6942440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctcatcttcctggattctCgccttcacactcccatgtat	6	16	4	15	1	4	0	2	0	3	0	8	1	6	1	3	1	0	1	3	1	1	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6942440C>T	ENST00000317834.3	+	1	236	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTGGATTCTCGCCTTCACAC	0.428													30	62					0	0	0	0	T	6942440	C	T	6942440	3	4	328	1	0	0	0	0	1	0	0	0	11066	884	31	1	210	1	OR2D3	11	6942440	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	43680	6942440	128064076	1414	59628											
OR5P3	120066	broad.mit.edu	37	chr11	7847156	7847156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagcagatggccacatagcGatcataggccatggcagcca	12	6	12	11	1	1	2	1	1	0	1	1	3	1	2	3	3	3	2	3	3	2	2	rs117218570	by1000genomes	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:7847156G>A	ENST00000328375.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCACATAGCGATCATAGGCC	0.557													41	64					0	0	0	0	A	7847156	G	A	7847156	3	1	328	1	0	0	0	0	1	0	0	0	11250	1058	37	1	574	1	OR5P3	11	7847156	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	904716	7847156	127159360	1415	59629											
NLRP10	338322	broad.mit.edu	37	chr11	7982492	7982492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgcagcaccagaaaaGgagctgctccagtttgctct	9	8	10	14	1	1	1	0	0	1	1	3	2	3	2	4	1	4	6	4	1	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:7982492G>A	ENST00000328600.2	-	2	828	c.667C>T	c.(667-669)Ctt>Ttt	p.L223F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	223	NACHT.						ATP binding	p.L223F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACCAGAAAAGGAGCTGCTCC	0.547													20	28					0	0	0	0	A	7982492	G	A	7982492	3	1	328	1	0	0	0	0	1	0	0	0	10542	1000	35	4	1304	4	NLRP10	11	7982492	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	135336	7982492	127024024	1416	59630											
STK33	65975	broad.mit.edu	37	chr11	8435192	8435192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggttatttttccattccttCatcatctctaatacattggt	8	19	5	9	0	3	0	2	0	1	0	6	0	5	0	2	2	1	1	2	2	3	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:8435192C>T	ENST00000447869.1	-	11	2112	c.1194G>A	c.(1192-1194)atG>atA	p.M398I	STK33_ENST00000396673.1_Intron|STK33_ENST00000396672.1_Missense_Mutation_p.M398I|STK33_ENST00000534493.1_Missense_Mutation_p.M357I|STK33_ENST00000358872.3_Missense_Mutation_p.M211I|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000315204.1_Missense_Mutation_p.M398I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	398						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TCCATTCCTTCATCATCTCTA	0.363													41	49					0	0	0	0	T	8435192	C	T	8435192	3	4	328	1	0	0	0	0	1	0	0	0	15390	826	29	2	358	2	STK33	11	8435192	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	452700	8435192	126571324	1417	59631											
DENND5A	23258	broad.mit.edu	37	chr11	9225624	9225624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggagtgtcttcaccatcctCcatgctgctctggtctctgt	5	14	9	13	0	4	0	1	0	3	0	7	1	6	1	3	2	2	2	3	2	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:9225624C>T	ENST00000328194.3	-	4	852	c.532G>A	c.(532-534)Gag>Aag	p.E178K	DENND5A_ENST00000530044.1_Missense_Mutation_p.E178K	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	178										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCACCATCCTCCATGCTGCTC	0.522													26	34					0	0	0	0	T	9225624	C	T	9225624	3	4	328	1	0	0	0	0	1	0	0	0	4473	864	30	2	3411	2	DENND5A	11	9225624	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	790432	9225624	125780892	1418	59632											
MRVI1	10335	broad.mit.edu	37	chr11	10625981	10625981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctttgaagttttccagttCtttctcagtgttctcctctg	5	19	7	10	0	4	1	1	1	4	0	7	1	5	1	2	0	1	4	2	0	1	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:10625981C>T	ENST00000547195.1	-	12	1941	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	MRVI1_ENST00000436272.1_Missense_Mutation_p.E545K|MRVI1_ENST00000545852.1_Missense_Mutation_p.E257K|MRVI1_ENST00000541483.1_Missense_Mutation_p.E366K|MRVI1_ENST00000552103.1_Missense_Mutation_p.E481K|MRVI1_ENST00000531107.1_Missense_Mutation_p.E564K|MRVI1_ENST00000527509.2_Missense_Mutation_p.E481K|MRVI1_ENST00000424001.1_Missense_Mutation_p.E257K|MRVI1_ENST00000558540.1_Missense_Mutation_p.E257K|MRVI1_ENST00000423302.2_Missense_Mutation_p.E572K|MRVI1_ENST00000421747.1_Missense_Mutation_p.E563K|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000534266.2_Missense_Mutation_p.E257K	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	545					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTTTCCAGTTCTTTCTCAGTG	0.483													13	30					0	0	0	0	T	10625981	C	T	10625981	3	4	328	1	0	0	0	0	1	0	0	0	9923	922	32	2	1060	2	MRVI1	11	10625981	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1400357	10625981	124380535	1419	59633											
MICALCL	84953	broad.mit.edu	37	chr11	12315195	12315195	+	Missense_Mutation	SNP	G	G	A																															ggaggcgagccgtagcccaaGgagcacccagggaaattccc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:12315195G>A	ENST00000256186.2	+	3	508	c.217G>A	c.(217-219)Gga>Aga	p.G73R		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	73	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CGTAGCCCAAGGAGCACCCAG	0.587													56	110					0	0	0	0	A	12315195	G	A	12315195	3	1	328	1	0	0	0	0	1	0	0	0	9641	1001	35	4	223	4	MICALCL	11	12315195	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1689214	12315195	122691321	1420	59634	607	2									
MICALCL	84953	broad.mit.edu	37	chr11	12315196	12315196	+	Missense_Mutation	SNP	G	G	A																															gaggcgagccgtagcccaagGagcacccagggaaattcccc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:12315196G>A	ENST00000256186.2	+	3	509	c.218G>A	c.(217-219)gGa>gAa	p.G73E		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	73	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GTAGCCCAAGGAGCACCCAGG	0.582													57	111					0	0	0	0	A	12315196	G	A	12315196	3	1	328	1	0	0	0	0	1	0	0	0	9641	1174	41	2	224	2	MICALCL	11	12315196	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	12315196	122691320	1421	59635	607	2									
ABCC8	6833	broad.mit.edu	37	chr11	17498277	17498277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaccccctggtccaccCggtaggcggccgagtggttc	5	7	15	14	3	0	1	0	1	0	0	2	3	1	2	5	6	0	2	5	6	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:17498277C>T	ENST00000302539.4	-	1	172	c.47G>A	c.(46-48)cGg>cAg	p.R16Q	ABCC8_ENST00000389817.3_Missense_Mutation_p.R16Q	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	16					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGGTCCACCCGGTAGGCGGC	0.682													7	12					0	0	0	0	T	17498277	C	T	17498277	3	4	328	1	0	0	0	0	1	0	0	0	58	652	23	1	4854	1	ABCC8	11	17498277	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5183081	17498277	117508239	1422	59636											
KCNC1	3746	broad.mit.edu	37	chr11	17793577	17793577	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctgggcttcctgcgcgtCgtccgcttcgtgcgcatctt	1	13	13	14	6	1	0	0	0	1	0	5	0	3	0	2	1	3	4	2	1	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:17793577C>T	ENST00000379472.3	+	2	966	c.936C>T	c.(934-936)gtC>gtT	p.V312V	KCNC1_ENST00000265969.6_Silent_p.V312V	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	312						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCCTGCGCGTCGTCCGCTTCG	0.632													16	30					0	0	0	0	T	17793577	C	T	17793577	2	4	328	1	0	0	0	0	0	0	0	1	8067	871	31	1		1	KCNC1	11	17793577	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	295300	17793577	117212939	1423	59637											
HPS5	11234	broad.mit.edu	37	chr11	18327005	18327005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggggaaagacaaagactggGaggatccagctgtatgatca	14	7	14	6	0	1	3	1	1	0	2	2	6	2	6	1	4	1	2	1	4	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:18327005G>A	ENST00000396253.3	-	7	980	c.518C>T	c.(517-519)tCc>tTc	p.S173F	HPS5_ENST00000349215.3_Missense_Mutation_p.S287F|HPS5_ENST00000438420.2_Missense_Mutation_p.S173F|HPS5_ENST00000531848.1_Missense_Mutation_p.S173F	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	287						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAAAGACTGGGAGGATCCAGC	0.338									Hermansky-Pudlak syndrome				18	39					0	0	0	0	A	18327005	G	A	18327005	3	1	328	1	0	0	0	0	1	0	0	0	7392	1174	41	2	2593	2	HPS5	11	18327005	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	533428	18327005	116679511	1424	59638											
TSG101	7251	broad.mit.edu	37	chr11	18505527	18505527	+	Missense_Mutation	SNP	C	C	T																															tgcctgggcacgatccatttCctccttcatccgccatctca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:18505527C>T	ENST00000536719.1	-	8	867	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	TSG101_ENST00000357193.3_Missense_Mutation_p.E140K|TSG101_ENST00000251968.3_Missense_Mutation_p.E245K			Q99816	TS101_HUMAN	tumor susceptibility 101	245					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CGATCCATTTCCTCCTTCATC	0.522													79	204					0	0	0	0	T	18505527	C	T	18505527	3	4	328	1	0	0	0	0	1	0	0	0	16711	864	30	2	451	2	TSG101	11	18505527	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	178522	18505527	116500989	1425	59639	608	2									
TSG101	7251	broad.mit.edu	37	chr11	18505528	18505528	+	Silent	SNP	C	C	T																															gcctgggcacgatccatttcCtccttcatccgccatctcag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:18505528C>T	ENST00000536719.1	-	8	866	c.732G>A	c.(730-732)gaG>gaA	p.E244E	TSG101_ENST00000357193.3_Silent_p.E139E|TSG101_ENST00000251968.3_Silent_p.E244E			Q99816	TS101_HUMAN	tumor susceptibility 101	244					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GATCCATTTCCTCCTTCATCC	0.522													79	204					0	0	0	0	T	18505528	C	T	18505528	2	4	328	1	0	0	0	0	0	0	0	1	16711	680	24	4		4	TSG101	11	18505528	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	18505528	116500988	1426	59640	608	2									
SPTY2D1	144108	broad.mit.edu	37	chr11	18637344	18637344	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggtggggcacttttaagGgggacctttggtttgctttc	4	15	16	6	0	0	0	0	0	0	0	1	1	0	1	1	7	1	3	1	7	1	5	rs144589695	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:18637344G>A	ENST00000336349.5	-	3	712	c.477C>T	c.(475-477)ccC>ccT	p.P159P	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	159										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CACTTTTAAGGGGGACCTTTG	0.453													32	58					0	0	0	0	A	18637344	G	A	18637344	2	1	328	1	0	0	0	0	0	0	0	1	15216	1219	43	4		4	SPTY2D1	11	18637344	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	131816	18637344	116369172	1427	59641											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077804	19077804	+	Missense_Mutation	SNP	C	C	T																															ccaggagccagagcacaaacCcgtttcctaccagcccgacc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:19077804C>T	ENST00000329773.2	-	2	233	c.146G>A	c.(145-147)gGg>gAg	p.G49E		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	49					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GAGCACAAACCCGTTTCCTAC	0.582													43	100					0	0	0	0	T	19077804	C	T	19077804	3	4	328	1	0	0	0	0	1	0	0	0	9837	623	22	4	850	4	MRGPRX2	11	19077804	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	440460	19077804	115928712	1428	59642	609	2									
MRGPRX2	117194	broad.mit.edu	37	chr11	19077805	19077805	+	Missense_Mutation	SNP	C	C	T																															caggagccagagcacaaaccCgtttcctaccagcccgacca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:19077805C>T	ENST00000329773.2	-	2	232	c.145G>A	c.(145-147)Ggg>Agg	p.G49R		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	49					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGCACAAACCCGTTTCCTACC	0.582													44	99					0	0	0	0	T	19077805	C	T	19077805	3	4	328	1	0	0	0	0	1	0	0	0	9837	652	23	1	851	1	MRGPRX2	11	19077805	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	19077805	115928711	1429	59643	609	2									
MUC15	143662	broad.mit.edu	37	chr11	26586799	26586799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agttgttttttcttgataagGggtaaacccagtgaagctat	11	15	10	5	0	1	2	0	2	1	0	1	2	1	2	1	2	2	4	1	2	5	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:26586799G>A	ENST00000436318.2	-	2	821	c.688C>T	c.(688-690)Cct>Tct	p.P230S	ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.P230S|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.P230S|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.P203S|MUC15_ENST00000529533.1_Missense_Mutation_p.P230S			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	203						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TCTTGATAAGGGGTAAACCCA	0.398													29	67					0	0	0	0	A	26586799	G	A	26586799	3	1	328	1	0	0	0	0	1	0	0	0	10042	1232	43	4	409	4	MUC15	11	26586799	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7508994	26586799	108419717	1430	59644											
SLC5A12	159963	broad.mit.edu	37	chr11	26718756	26718756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccacaaaaagtcctggcagtCctggcattgtggcaaatatc	12	9	9	11	0	0	0	0	0	0	0	3	0	2	0	3	3	0	3	3	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:26718756C>T	ENST00000396005.3	-	8	1304	c.995G>A	c.(994-996)gGa>gAa	p.G332E	SLC5A12_ENST00000280467.6_Missense_Mutation_p.G332E	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	332					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TCCTGGCAGTCCTGGCATTGT	0.383													29	50					0	0	0	0	T	26718756	C	T	26718756	3	4	328	1	0	0	0	0	1	0	0	0	14752	855	30	2	893	2	SLC5A12	11	26718756	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	131957	26718756	108287760	1431	59645											
LGR4	55366	broad.mit.edu	37	chr11	27390214	27390214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggggtgatgcagaatattCccctctatggaaaaggggaa	14	8	13	6	0	1	2	0	1	1	1	2	4	2	4	2	5	1	1	2	5	7	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:27390214C>T	ENST00000379214.4	-	18	2499	c.2056G>A	c.(2056-2058)Gaa>Aaa	p.E686K	LGR4_ENST00000389858.4_Missense_Mutation_p.E662K	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	686						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GCAGAATATTCCCCTCTATGG	0.438													32	40					0	0	0	0	T	27390214	C	T	27390214	3	4	328	1	0	0	0	0	1	0	0	0	8810	864	30	2	803	2	LGR4	11	27390214	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	671458	27390214	107616302	1432	59646											
KCNA4	3739	broad.mit.edu	37	chr11	30033107	30033107	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaatacagactgtttccacGatgaagaaggggtcattgaa	15	9	10	7	1	1	4	1	2	0	2	2	5	2	4	1	2	1	1	1	2	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:30033107G>A	ENST00000328224.6	-	2	2352	c.1119C>T	c.(1117-1119)atC>atT	p.I373I		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	373						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CTGTTTCCACGATGAAGAAGG	0.468													29	58					0	0	0	0	A	30033107	G	A	30033107	2	1	328	1	0	0	0	0	0	0	0	1	8058	1048	37	1		1	KCNA4	11	30033107	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2642893	30033107	104973409	1433	59647											
KCNA4	3739	broad.mit.edu	37	chr11	30033388	30033388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcggggagggccctgtcttCctcttctctcacaaagccct	5	11	9	16	1	4	0	1	0	3	0	7	1	5	1	3	3	1	0	3	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:30033388C>T	ENST00000328224.6	-	2	2071	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	280						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GCCCTGTCTTCCTCTTCTCTC	0.507													9	33					0	0	0	0	T	30033388	C	T	30033388	3	4	328	1	0	0	0	0	1	0	0	0	8058	864	30	2	1127	2	KCNA4	11	30033388	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	281	30033388	104973128	1434	59648											
DCDC1	341019	broad.mit.edu	37	chr11	30928163	30928163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgaaatacagaggaatGgaacccctggaagcaattgt	14	8	11	8	0	0	2	0	1	0	1	0	5	0	5	3	3	4	1	3	3	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:30928163G>A	ENST00000597505.1	-	28	4027	c.4028C>T	c.(4027-4029)cCa>cTa	p.P1343L	DCDC1_ENST00000339794.5_Missense_Mutation_p.P422L|DCDC1_ENST00000406071.2_Missense_Mutation_p.P78L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACAGAGGAATGGAACCCCTGG	0.463													7	29					0	0	0	0	A	30928163	G	A	30928163	3	1	328	1	0	0	0	0	1	0	0	0	4316	1363	47	4		4	DCDC1	11	30928163	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	894775	30928163	104078353	1435	59649											
ELP4	26610	broad.mit.edu	37	chr11	31531419	31531419	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcaacgtcaccagtttcCagaggaggggtcctagagcc	11	6	13	11	1	1	3	1	0	0	3	3	4	3	4	4	3	3	2	4	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:31531419C>T	ENST00000395934.2	+	1	95	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	ELP4_ENST00000350638.5_Nonsense_Mutation_p.Q30*|ELP4_ENST00000379163.5_Nonsense_Mutation_p.Q30*			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	30					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CACCAGTTTCCAGAGGAGGGG	0.632													33	59					0	0	0	0	T	31531419	C	T	31531419	4	4	328	1	0	0	0	0	0	1	0	0	5120	595	21	4	90	4	ELP4	11	31531419	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	603256	31531419	103475097	1436	59650											
QSER1	79832	broad.mit.edu	37	chr11	32956826	32956826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaactggcggtaacagtcCatcagataaagttgataatg	15	10	10	6	1	1	3	1	2	0	1	2	3	2	3	1	2	2	2	1	2	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:32956826C>T	ENST00000399302.2	+	4	3970	c.3635C>T	c.(3634-3636)cCa>cTa	p.P1212L	QSER1_ENST00000527788.1_Missense_Mutation_p.P973L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1212										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GGTAACAGTCCATCAGATAAA	0.408													66	93					0	0	0	0	T	32956826	C	T	32956826	3	4	328	1	0	0	0	0	1	0	0	0	12964	594	21	4	3641	4	QSER1	11	32956826	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1425407	32956826	102049690	1437	59651											
SLC1A2	6506	broad.mit.edu	37	chr11	35323144	35323144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatcagcttggcctgatctCccatcttccccatagcgatg	7	11	7	16	1	3	1	1	1	2	0	5	2	4	1	5	1	2	1	5	1	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:35323144C>T	ENST00000278379.3	-	6	1061	c.779G>A	c.(778-780)gGa>gAa	p.G260E	SLC1A2_ENST00000395753.1_Missense_Mutation_p.G251E|SLC1A2_ENST00000606205.1_Missense_Mutation_p.G260E|SLC1A2_ENST00000395750.1_Missense_Mutation_p.G251E	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	260					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GGCCTGATCTCCCATCTTCCC	0.378													24	37					0	0	0	0	T	35323144	C	T	35323144	3	4	328	1	0	0	0	0	1	0	0	0	14520	855	30	2	969	2	SLC1A2	11	35323144	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2366318	35323144	99683372	1438	59652											
LRRC4C	57689	broad.mit.edu	37	chr11	40136049	40136049	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagggagatttgtatgagttAtagtgatttaggtgctcatg	11	15	13	2	0	1	3	1	2	0	1	1	4	1	3	0	2	1	3	0	2	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:40136049A>T	ENST00000278198.2	-	2	3757	c.1794T>A	c.(1792-1794)taT>taA	p.Y598*	LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.Y598*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.Y598*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.Y598*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	598					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTATGAGTTATAGTGATTTA	0.408													51	75					0	0	0	0	T	40136049	A	T	40136049	4	4	328	1	0	0	0	0	0	1	0	0	9072	456	16	5	132	5	LRRC4C	11	40136049	Nonsense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	4812905	40136049	94870467	1439	59653											
LRRC4C	57689	broad.mit.edu	37	chr11	40137317	40137317	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caattcccctaagtctagtcGgcgcaaagaaggaattctgt	12	10	9	10	2	2	1	0	0	2	1	4	2	3	2	2	2	0	1	2	2	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:40137317G>A	ENST00000278198.2	-	2	2489	c.526C>T	c.(526-528)Cga>Tga	p.R176*	LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.R176*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.R176*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.R176*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	176					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGTCTAGTCGGCGCAAAGAA	0.423													34	47					0	0	0	0	A	40137317	G	A	40137317	4	1	328	1	0	0	0	0	0	1	0	0	9072	1124	39	1	1400	1	LRRC4C	11	40137317	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1268	40137317	94869199	1440	59654											
LRRC4C	57689	broad.mit.edu	37	chr11	40137329	40137329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtctagtcggcgcaaagaagGaattctgttaaaagcataag	15	9	11	6	2	2	1	0	0	2	1	3	2	2	2	0	2	1	3	0	2	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:40137329G>A	ENST00000278198.2	-	2	2477	c.514C>T	c.(514-516)Cct>Tct	p.P172S	LRRC4C_ENST00000530763.1_Missense_Mutation_p.P172S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P172S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P172S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	172					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CGCAAAGAAGGAATTCTGTTA	0.428													32	47					0	0	0	0	A	40137329	G	A	40137329	3	1	328	1	0	0	0	0	1	0	0	0	9072	1174	41	2	1412	2	LRRC4C	11	40137329	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	12	40137329	94869187	1441	59655											
ACCSL	390110	broad.mit.edu	37	chr11	44073226	44073226	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggttctaaatggctgctgCtctgtcttctgtgccctggc	3	15	12	11	0	4	0	0	0	4	0	4	0	4	0	1	3	3	4	1	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:44073226C>T	ENST00000378832.1	+	5	785	c.729C>T	c.(727-729)tgC>tgT	p.C243C		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	243							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						ATGGCTGCTGCTCTGTCTTCT	0.502													71	125					0	0	0	0	T	44073226	C	T	44073226	2	4	328	1	0	0	0	0	0	0	0	1	134	805	28	4		4	ACCSL	11	44073226	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3935897	44073226	90933290	1442	59656											
ACCSL	390110	broad.mit.edu	37	chr11	44074302	44074302	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgattcctgtccacctggAgagtgaggtctgaatggggc	7	11	15	8	0	1	4	0	3	1	1	3	5	3	4	3	4	0	1	3	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:44074302A>G	ENST00000378832.1	+	6	919	c.863A>G	c.(862-864)gAg>gGg	p.E288G		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	288							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GTCCACCTGGAGAGTGAGGTC	0.547													68	99					0	0	0	0	G	44074302	A	G	44074302	3	3	328	1	0	0	0	0	1	0	0	0	134	304	11	5	885	5	ACCSL	11	44074302	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	1076	44074302	90932214	1443	59657											
ALX4	60529	broad.mit.edu	37	chr11	44297187	44297187	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagggggtaactctggcTcacccagggagctctcttta	8	10	12	11	0	4	0	2	0	2	0	5	1	4	1	1	4	2	3	1	4	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:44297187T>G	ENST00000329255.3	-	2	591	c.488A>C	c.(487-489)gAg>gCg	p.E163A		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	163					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TAACTCTGGCTCACCCAGGGA	0.582													17	33					0	0	0	0	G	44297187	T	G	44297187	3	3	328	1	0	0	0	0	1	0	0	0	558	1551	54	5	759	5	ALX4	11	44297187	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	222885	44297187	90709329	1444	59658											
PRDM11	56981	broad.mit.edu	37	chr11	45246289	45246289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgcctaaagaagaaggttCgggagctccaggcagaatta	13	8	12	8	2	0	3	0	0	0	3	3	4	1	4	2	3	1	3	2	3	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:45246289C>T	ENST00000263765.4	+	8	1615	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	PRDM11_ENST00000530656.1_Missense_Mutation_p.R456W|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Missense_Mutation_p.R422W|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	456										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GAAGAAGGTTCGGGAGCTCCA	0.552													96	162					0	0	0	0	T	45246289	C	T	45246289	3	4	328	1	0	0	0	0	1	0	0	0	12532	875	31	1	1392	1	PRDM11	11	45246289	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	949102	45246289	89760227	1445	59659											
CHST1	8534	broad.mit.edu	37	chr11	45671279	45671279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgctcctccaccaggctgaCcgaggggttcttcagctcct	5	9	10	17	2	2	1	1	1	1	0	5	2	5	1	6	3	1	4	6	3	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:45671279C>T	ENST00000308064.2	-	4	1865	c.1195G>A	c.(1195-1197)Gtc>Atc	p.V399I		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	399					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ACCAGGCTGACCGAGGGGTTC	0.662													24	51					0	0	0	0	T	45671279	C	T	45671279	3	4	328	1	0	0	0	0	1	0	0	0	3426	507	18	4	44	4	CHST1	11	45671279	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	424990	45671279	89335237	1446	59660											
F2	2147	broad.mit.edu	37	chr11	46748059	46748059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcccaacagaggaggccgtgGaggaggagacaggagatggg	12	3	19	7	1	0	3	0	0	0	3	1	8	1	6	2	7	1	0	2	7	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:46748059G>A	ENST00000311907.5	+	8	942	c.886G>A	c.(886-888)Gag>Aag	p.E296K	F2_ENST00000530231.1_Missense_Mutation_p.E296K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	296					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GGAGGCCGTGGAGGAGGAGAC	0.622													7	20					0	0	0	0	A	46748059	G	A	46748059	3	1	328	1	0	0	0	0	1	0	0	0	5380	1175	41	2	916	2	F2	11	46748059	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1076780	46748059	88258457	1447	59661											
OR4X1	390113	broad.mit.edu	37	chr11	48285517	48285517	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcctcatgtacacagcTgttgtgctgggcaatggcct	6	14	10	11	0	2	0	1	0	1	0	3	0	2	0	2	2	3	5	2	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:48285517T>G	ENST00000320048.1	+	1	105	c.105T>G	c.(103-105)gcT>gcG	p.A35A		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGTACACAGCTGTTGTGCTGG	0.458													25	36					0	0	0	0	G	48285517	T	G	48285517	2	3	328	1	0	0	0	0	0	0	0	1	11155	1567	55	5		5	OR4X1	11	48285517	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1537458	48285517	86720999	1448	59662											
OR4S1	256148	broad.mit.edu	37	chr11	48328429	48328429	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcatttcctatgttatcAtcttactgaacctaagaagc	12	16	4	9	0	3	2	2	1	1	1	4	2	4	2	2	0	3	1	2	0	7	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:48328429A>G	ENST00000319988.1	+	1	655	c.655A>G	c.(655-657)Atc>Gtc	p.I219V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTATGTTATCATCTTACTGAA	0.478													45	75					0	0	0	0	G	48328429	A	G	48328429	3	3	328	1	0	0	0	0	1	0	0	0	11153	217	8	5	657	5	OR4S1	11	48328429	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	42912	48328429	86678087	1449	59663											
OR4C3	256144	broad.mit.edu	37	chr11	48346832	48346832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgctgactcattgtatgagGggagaaccatctcttatgag	10	13	11	7	0	2	4	1	3	1	1	3	5	2	4	1	2	2	2	1	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:48346832G>A	ENST00000319856.4	+	1	361	c.340G>A	c.(340-342)Ggg>Agg	p.G114R		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ATTGTATGAGGGGAGAACCAT	0.448													49	226					0	0	0	0	A	48346832	G	A	48346832	3	1	328	1	0	0	0	0	1	0	0	0	11121	1232	43	4	342	4	OR4C3	11	48346832	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	18403	48346832	86659684	1450	59664											
OR4A16	81327	broad.mit.edu	37	chr11	55110910	55110910	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccactgccatgtcacccaaAttgatgatagacttactctg	11	12	6	12	0	2	3	1	2	1	1	3	3	3	3	3	0	2	0	3	0	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55110910A>G	ENST00000314721.2	+	1	284	c.234A>G	c.(232-234)aaA>aaG	p.K78K		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGTCACCCAAATTGATGATAG	0.453													75	130					0	0	0	0	G	55110910	A	G	55110910	2	3	328	1	0	0	0	0	0	0	0	1	11112	98	4	5		5	OR4A16	11	55110910	Silent	SNP	A	TCGA-CV-7568-01A-11D-2229-08	6764078	55110910	79895606	1451	59665											
OR4C15	81309	broad.mit.edu	37	chr11	55321984	55321984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taactgagtttgtcctcctgGgactttcacagaatccaaat	11	13	7	10	0	1	2	1	1	0	1	4	3	4	3	3	1	1	1	3	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55321984G>A	ENST00000314644.2	+	1	202	c.202G>A	c.(202-204)Gga>Aga	p.G68R		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTCCTCCTGGGACTTTCACA	0.383										HNSCC(20;0.049)			55	79					0	0	0	0	A	55321984	G	A	55321984	3	1	328	1	0	0	0	0	1	0	0	0	11119	1233	43	4	204	4	OR4C15	11	55321984	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	211074	55321984	79684532	1452	59666											
OR4C11	219429	broad.mit.edu	37	chr11	55371481	55371481	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacgcaagggcttacagatGgccacatagcgatcaacagc	14	6	10	11	2	1	1	1	0	0	1	1	2	1	1	1	2	5	2	1	2	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55371481G>A	ENST00000302231.4	-	1	393	c.369C>T	c.(367-369)gcC>gcT	p.A123A		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GCTTACAGATGGCCACATAGC	0.458													26	36					0	0	0	0	A	55371481	G	A	55371481	2	1	328	1	0	0	0	0	0	0	0	1	11116	1335	47	4		4	OR4C11	11	55371481	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	49497	55371481	79635035	1453	59667											
OR5F1	338674	broad.mit.edu	37	chr11	55761640	55761640	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtgttgaccatgaagttCagcaaccctgcagcaaaagc	12	9	9	11	0	1	2	1	2	0	0	1	2	1	2	2	0	5	5	2	0	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55761640C>T	ENST00000278409.1	-	1	461	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L154L(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCATGAAGTTCAGCAACCCTG	0.507													33	35					0	0	0	0	T	55761640	C	T	55761640	2	4	328	1	0	0	0	0	0	0	0	1	11229	813	29	2		2	OR5F1	11	55761640	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	390159	55761640	79244876	1454	59668											
OR5AS1	219447	broad.mit.edu	37	chr11	55798563	55798563	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttacttctgcatcctcatCactgtgttgagcatcaagtc	8	15	6	12	0	5	1	3	1	2	0	7	1	6	1	1	0	3	3	1	0	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55798563C>T	ENST00000313555.1	+	1	669	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GCATCCTCATCACTGTGTTGA	0.458													54	99					0	0	0	0	T	55798563	C	T	55798563	2	4	328	1	0	0	0	0	0	0	0	1	11217	816	29	2		2	OR5AS1	11	55798563	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	36923	55798563	79207953	1455	59669											
OR8H3	390152	broad.mit.edu	37	chr11	55890546	55890546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaaattaattccacttcagGaaagcagaaagctttctcta	16	11	6	8	0	2	1	1	0	1	1	4	3	3	2	1	1	2	2	1	1	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55890546G>A	ENST00000313472.3	+	1	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCCACTTCAGGAAAGCAGAAA	0.398													48	48					0	0	0	0	A	55890546	G	A	55890546	3	1	328	1	0	0	0	0	1	0	0	0	11310	1174	41	2	700	2	OR8H3	11	55890546	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	91983	55890546	79115970	1456	59670											
OR8K5	219453	broad.mit.edu	37	chr11	55927656	55927656	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtccagtttggtcaaaatGatcatagttaggttgcccac	11	12	10	8	0	2	1	2	1	0	0	3	2	3	1	2	2	1	3	2	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55927656G>A	ENST00000313447.1	-	1	137	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I46I(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TGGTCAAAATGATCATAGTTA	0.433													37	74					0	0	0	0	A	55927656	G	A	55927656	2	1	328	1	0	0	0	0	0	0	0	1	11316	1280	45	2		2	OR8K5	11	55927656	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	37110	55927656	79078860	1457	59671											
OR5T2	219464	broad.mit.edu	37	chr11	56000423	56000423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctaaaatcagtcctaaatttCccatgagagtgaagaggtag	15	10	9	7	0	1	3	1	2	0	2	3	4	3	3	2	1	0	1	2	1	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56000423C>T	ENST00000313264.4	-	1	314	c.239G>A	c.(238-240)gGa>gAa	p.G80E		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G80E(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TCCTAAATTTCCCATGAGAGT	0.413													20	29					0	0	0	0	T	56000423	C	T	56000423	3	4	328	1	0	0	0	0	1	0	0	0	11253	855	30	2	839	2	OR5T2	11	56000423	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	72767	56000423	79006093	1458	59672											
OR8K1	390157	broad.mit.edu	37	chr11	56114036	56114036	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttatttaaactgtccttCtgtggctcaaacataatcag	13	14	6	8	0	3	0	2	0	1	0	4	0	4	0	1	1	2	2	1	1	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56114036C>T	ENST00000279783.2	+	1	616	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					AACTGTCCTTCTGTGGCTCAA	0.353										HNSCC(65;0.19)			53	74					0	0	0	0	T	56114036	C	T	56114036	2	4	328	1	0	0	0	0	0	0	0	1	11314	912	32	2		2	OR8K1	11	56114036	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	113613	56114036	78892480	1459	59673											
OR8K1	390157	broad.mit.edu	37	chr11	56114290	56114290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtggtgatcatgttctatgGgacattgttatttatttact	9	19	9	4	0	2	1	1	1	1	0	2	2	2	2	0	2	1	2	0	2	4	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56114290G>A	ENST00000279783.2	+	1	870	c.776G>A	c.(775-777)gGg>gAg	p.G259E		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATGTTCTATGGGACATTGTTA	0.403										HNSCC(65;0.19)			20	36					0	0	0	0	A	56114290	G	A	56114290	3	1	328	1	0	0	0	0	1	0	0	0	11314	1232	43	4	778	4	OR8K1	11	56114290	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	254	56114290	78892226	1460	59674											
OR5M11	219487	broad.mit.edu	37	chr11	56309824	56309824	+	Silent	SNP	G	G	A																															catgacaatatttcatctcaGgacattcttcaaggcctgct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56309824G>A	ENST00000528616.2	-	1	933	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TTTCATCTCAGGACATTCTTC	0.383													11	17					0	0	0	0	A	56309824	G	A	56309824	2	1	328	1	0	0	0	0	0	0	0	1	11245	991	35	4		4	OR5M11	11	56309824	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	195534	56309824	78696692	1461	59675	610	2									
OR5M11	219487	broad.mit.edu	37	chr11	56309825	56309825	+	Silent	SNP	G	G	A																															atgacaatatttcatctcagGacattcttcaaggcctgctt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56309825G>A	ENST00000528616.2	-	1	932	c.909C>T	c.(907-909)gtC>gtT	p.V303V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TTCATCTCAGGACATTCTTCA	0.388													11	17					0	0	0	0	A	56309825	G	A	56309825	2	1	328	1	0	0	0	0	0	0	0	1	11245	1161	41	2		2	OR5M11	11	56309825	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	56309825	78696691	1462	59676	610	2									
OR5M10	390167	broad.mit.edu	37	chr11	56344919	56344919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgaagcatccagcgtaGgagatggtcttctgttctga	8	13	13	7	1	3	3	0	2	3	1	4	4	4	3	1	2	2	3	1	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56344919G>A	ENST00000526812.2	-	1	344	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATCCAGCGTAGGAGATGGTCT	0.428													27	41					0	0	0	0	A	56344919	G	A	56344919	2	1	328	1	0	0	0	0	0	0	0	1	11244	987	35	4		4	OR5M10	11	56344919	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	35094	56344919	78661597	1463	59677											
OR5AR1	219493	broad.mit.edu	37	chr11	56431806	56431806	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaccatcctcatcatcttCatctcctatacctttatcct	9	15	1	16	0	5	0	3	0	2	0	8	0	7	0	5	0	2	1	5	0	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56431806C>T	ENST00000302969.2	+	1	669	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCATCATCTTCATCTCCTATA	0.488													46	68					0	0	0	0	T	56431806	C	T	56431806	2	4	328	1	0	0	0	0	0	0	0	1	11216	825	29	2		2	OR5AR1	11	56431806	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	86887	56431806	78574710	1464	59678											
OR5AK2	390181	broad.mit.edu	37	chr11	56756814	56756814	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgtcccgaacagtctgcatCcgtttggtagctggttcata	8	13	10	10	2	2	0	1	0	1	0	4	1	4	0	2	2	3	5	2	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56756814C>T	ENST00000326855.2	+	1	468	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CAGTCTGCATCCGTTTGGTAG	0.448													47	74					0	0	0	0	T	56756814	C	T	56756814	2	4	328	1	0	0	0	0	0	0	0	1	11213	845	30	2		2	OR5AK2	11	56756814	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	325008	56756814	78249702	1465	59679											
SLC43A1	8501	broad.mit.edu	37	chr11	57256729	57256729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaggtgggtacctggaGgtgtaagttgttgatgagac	10	11	17	3	0	0	3	0	3	0	1	0	6	0	4	1	4	1	4	1	4	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:57256729G>A	ENST00000278426.3	-	12	1685	c.1330C>T	c.(1330-1332)Ctc>Ttc	p.L444F	SLC43A1_ENST00000528450.1_Missense_Mutation_p.L444F	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	444					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGTACCTGGAGGTGTAAGTTG	0.562													23	38					0	0	0	0	A	57256729	G	A	57256729	3	1	328	1	0	0	0	0	1	0	0	0	14720	1000	35	4	365	4	SLC43A1	11	57256729	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	499915	57256729	77749787	1466	59680											
SERPING1	710	broad.mit.edu	37	chr11	57381961	57381961	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggcccgcaccctgctggtCtttgaagtgcagcagccctt	5	10	12	14	1	1	1	0	1	1	0	1	1	1	1	3	2	4	4	3	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:57381961C>T	ENST00000403558.1	+	7	1905	c.1539C>T	c.(1537-1539)gtC>gtT	p.V513V	SERPING1_ENST00000340687.6_Silent_p.V433V|SERPING1_ENST00000278407.4_Silent_p.V470V|SERPING1_ENST00000378324.2_Silent_p.V418V|SERPING1_ENST00000378323.4_Silent_p.V475V	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	470					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCCTGCTGGTCTTTGAAGTGC	0.612													30	32					0	0	0	0	T	57381961	C	T	57381961	2	4	328	1	0	0	0	0	0	0	0	1	14203	900	32	2		2	SERPING1	11	57381961	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	125232	57381961	77624555	1467	59681											
OR1S2	219958	broad.mit.edu	37	chr11	57971378	57971378	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatattcaccagcattttGgggactgagttggaaatgga	12	12	12	5	0	1	2	1	2	0	0	1	5	1	5	1	4	1	2	1	4	3	5	rs140744069		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:57971378G>A	ENST00000302592.6	-	1	275	c.276C>T	c.(274-276)ccC>ccT	p.P92P		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CCAGCATTTTGGGGACTGAGT	0.418													37	87					0	0	0	0	A	57971378	G	A	57971378	2	1	328	1	0	0	0	0	0	0	0	1	11044	1335	47	4		4	OR1S2	11	57971378	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	589417	57971378	77035138	1468	59682											
OR10Q1	219960	broad.mit.edu	37	chr11	57996128	57996128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacggtggtgtagcagagttCcaggaaagacaggttggaca	12	7	15	7	1	0	2	0	0	0	2	1	4	1	4	1	5	1	4	1	5	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:57996128C>T	ENST00000316770.2	-	1	262	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TAGCAGAGTTCCAGGAAAGAC	0.537													25	53					0	0	0	0	T	57996128	C	T	57996128	3	4	328	1	0	0	0	0	1	0	0	0	10987	864	30	2	743	2	OR10Q1	11	57996128	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	24750	57996128	77010388	1469	59683											
MPEG1	219972	broad.mit.edu	37	chr11	58979269	58979269	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttggcctgaaaattgaagTtgggagaattgagatctgtg	11	13	14	3	0	1	4	0	3	1	2	1	6	1	4	1	2	0	2	1	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:58979269T>C	ENST00000361050.3	-	1	1155	c.1070A>G	c.(1069-1071)aAc>aGc	p.N357S		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	357						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AAAATTGAAGTTGGGAGAATT	0.502													34	64					0	0	0	0	C	58979269	T	C	58979269	3	2	328	1	0	0	0	0	1	0	0	0	9793	1725	60	5	1084	5	MPEG1	11	58979269	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	983141	58979269	76027247	1470	59684											
OR5A2	219981	broad.mit.edu	37	chr11	59189730	59189730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggcctttgtcctacctgTagctgagctgatcttcacaa	9	12	9	11	0	2	2	1	2	1	0	3	3	3	2	3	1	3	3	3	1	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:59189730T>C	ENST00000302040.4	-	1	719	c.697A>G	c.(697-699)Aca>Gca	p.T233A		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GTCCTACCTGTAGCTGAGCTG	0.483													12	30					0	0	0	0	C	59189730	T	C	59189730	3	2	328	1	0	0	0	0	1	0	0	0	11211	1638	57	5	279	5	OR5A2	11	59189730	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	210461	59189730	75816786	1471	59685											
OR4D10	390197	broad.mit.edu	37	chr11	59245051	59245051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcatcatggtcactgttaCctgtgaatctcgccttcaca	8	13	6	14	1	5	1	4	1	1	0	6	1	5	1	3	1	1	1	3	1	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:59245051C>T	ENST00000530162.1	+	1	206	c.149C>T	c.(148-150)aCc>aTc	p.T50I		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCACTGTTACCTGTGAATCT	0.448													52	107					0	0	0	0	T	59245051	C	T	59245051	3	4	328	1	0	0	0	0	1	0	0	0	11125	507	18	4	151	4	OR4D10	11	59245051	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	55321	59245051	75761465	1472	59686											
OR10V1	390201	broad.mit.edu	37	chr11	59480636	59480636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttctgctgaccggatcCgtaaaatggctaccacgatg	9	9	10	13	3	1	1	0	1	1	0	2	3	2	2	4	2	2	3	4	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:59480636C>T	ENST00000307552.2	-	1	701	c.683G>A	c.(682-684)cGg>cAg	p.R228Q		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TGACCGGATCCGTAAAATGGC	0.493													32	43					0	0	0	0	T	59480636	C	T	59480636	3	4	328	1	0	0	0	0	1	0	0	0	10991	652	23	1	250	1	OR10V1	11	59480636	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	235585	59480636	75525880	1473	59687											
OR10V1	390201	broad.mit.edu	37	chr11	59480701	59480701	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagagggggatgctaaggacGatgaagctgatgatatacag	14	7	16	4	1	0	4	0	3	0	1	0	8	0	6	0	3	3	2	0	3	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:59480701G>A	ENST00000307552.2	-	1	636	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TGCTAAGGACGATGAAGCTGA	0.512													35	58					0	0	0	0	A	59480701	G	A	59480701	2	1	328	1	0	0	0	0	0	0	0	1	10991	1048	37	1		1	OR10V1	11	59480701	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	65	59480701	75525815	1474	59688											
TCN1	6947	broad.mit.edu	37	chr11	59631446	59631446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtttggatctggattcCaacaagtttgagggacaaca	12	10	12	7	0	1	1	0	1	1	0	2	4	2	4	1	4	2	2	1	4	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:59631446C>T	ENST00000257264.3	-	2	297	c.193G>A	c.(193-195)Gga>Aga	p.G65R	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	65					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCTGGATTCCAACAAGTTTG	0.383													48	90					0	0	0	0	T	59631446	C	T	59631446	3	4	328	1	0	0	0	0	1	0	0	0	15800	603	21	4	1140	4	TCN1	11	59631446	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	150745	59631446	75375070	1475	59689											
MS4A14	84689	broad.mit.edu	37	chr11	60184188	60184188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccagaaggacaatctaaaGatggacaagttaaagaccag	19	5	9	8	0	1	3	0	0	1	3	1	5	1	5	2	2	0	1	2	2	7	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60184188G>A	ENST00000300187.6	+	5	2024	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N	MS4A14_ENST00000531783.1_Missense_Mutation_p.D616N|MS4A14_ENST00000531787.1_Missense_Mutation_p.D471N|MS4A14_ENST00000395005.2_Missense_Mutation_p.D566N	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	583	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACAATCTAAAGATGGACAAGT	0.443													23	24					0	0	0	0	A	60184188	G	A	60184188	3	1	328	1	0	0	0	0	1	0	0	0	9928	942	33	2	1765	2	MS4A14	11	60184188	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	552742	60184188	74822328	1476	59690											
MS4A14	84689	broad.mit.edu	37	chr11	60184305	60184305	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccccgaaaggacaattcCaaaatgttcaagccgaagga	17	6	8	10	2	1	0	1	0	0	0	3	4	3	2	4	2	1	1	4	2	7	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60184305C>T	ENST00000300187.6	+	5	2141	c.1864C>T	c.(1864-1866)Caa>Taa	p.Q622*	MS4A14_ENST00000531783.1_Nonsense_Mutation_p.Q655*|MS4A14_ENST00000531787.1_Nonsense_Mutation_p.Q510*|MS4A14_ENST00000395005.2_Nonsense_Mutation_p.Q605*	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	622	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AGGACAATTCCAAAATGTTCA	0.463													23	26					0	0	0	0	T	60184305	C	T	60184305	4	4	328	1	0	0	0	0	0	1	0	0	9928	595	21	4	1882	4	MS4A14	11	60184305	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	117	60184305	74822211	1477	59691											
MS4A5	64232	broad.mit.edu	37	chr11	60197151	60197151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttatcaccgacaccatcatgGattcaagcaccgcacacagt	13	8	6	14	2	3	0	3	0	0	0	3	2	3	1	3	1	1	2	3	1	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60197151G>A	ENST00000300190.2	+	1	90	c.4G>A	c.(4-6)Gat>Aat	p.D2N	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	2						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CACCATCATGGATTCAAGCAC	0.453													53	77					0	0	0	0	A	60197151	G	A	60197151	3	1	328	1	0	0	0	0	1	0	0	0	9933	1174	41	2	6	2	MS4A5	11	60197151	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	12846	60197151	74809365	1478	59692											
MS4A5	64232	broad.mit.edu	37	chr11	60201298	60201298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcaatagctggaatcattCtcctcacatttggtttcatc	10	14	7	10	0	4	0	3	0	1	0	6	2	4	1	1	2	2	3	1	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60201298C>T	ENST00000300190.2	+	4	486	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	134						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TGGAATCATTCTCCTCACATT	0.368													42	63					0	0	0	0	T	60201298	C	T	60201298	3	4	328	1	0	0	0	0	1	0	0	0	9933	913	32	2	414	2	MS4A5	11	60201298	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4147	60201298	74805218	1479	59693											
TMEM132A	54972	broad.mit.edu	37	chr11	60694842	60694842	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcctacagccctggcccagGgcccagccacttctccgggc	5	6	10	20	1	1	0	0	0	1	0	3	0	2	0	6	3	3	0	6	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60694842G>A	ENST00000005286.4	+	2	420	c.267G>A	c.(265-267)agG>agA	p.R89R	TMEM132A_ENST00000453848.2_Silent_p.R89R	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	89						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTGGCCCAGGGCCCAGCCAC	0.632													39	80					0	0	0	0	A	60694842	G	A	60694842	2	1	328	1	0	0	0	0	0	0	0	1	16139	1223	43	4		4	TMEM132A	11	60694842	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	493544	60694842	74311674	1480	59694											
CD5	921	broad.mit.edu	37	chr11	60892578	60892578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcctcccacgtggataacGaatacagccaacctcccagg	12	5	8	16	2	0	0	0	0	0	0	2	2	2	1	5	2	5	0	5	2	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60892578G>A	ENST00000347785.3	+	9	1520	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	452					cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CGTGGATAACGAATACAGCCA	0.607													14	33					0	0	0	0	A	60892578	G	A	60892578	3	1	328	1	0	0	0	0	1	0	0	0	3050	1059	37	1	1388	1	CD5	11	60892578	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	197736	60892578	74113938	1481	59695											
VWCE	220001	broad.mit.edu	37	chr11	61048417	61048417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccatcacctccccctgaaGgagtgaggggggtctgaggt	7	7	14	13	0	2	3	1	3	1	0	3	4	3	4	5	5	0	0	5	5	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:61048417G>A	ENST00000335613.5	-	8	1464	c.1078C>T	c.(1078-1080)Ctt>Ttt	p.L360F		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	360						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCCCCCTGAAGGAGTGAGGGG	0.687													3	12					0	0	0	0	A	61048417	G	A	61048417	3	1	328	1	0	0	0	0	1	0	0	0	17341	1000	35	4	1841	4	VWCE	11	61048417	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	155839	61048417	73958099	1482	59696											
SYT7	9066	broad.mit.edu	37	chr11	61291312	61291312	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgtacctgatgtgcccccGatgtccatggctttgaggtt	5	12	11	13	2	0	2	0	2	0	0	1	3	1	2	5	2	2	3	5	2	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:61291312G>A	ENST00000263846.4	-	7	1221	c.894C>T	c.(892-894)atC>atT	p.I298I	SYT7_ENST00000542836.1_Silent_p.I342I|SYT7_ENST00000542670.1_Silent_p.I506I|SYT7_ENST00000540677.1_Silent_p.I373I|SYT7_ENST00000539008.1_Silent_p.I581I|SYT7_ENST00000535826.1_Silent_p.I417I	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	298	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGTGCCCCCGATGTCCATGG	0.602													105	183					0	0	0	0	A	61291312	G	A	61291312	2	1	328	1	0	0	0	0	0	0	0	1	15570	1048	37	1		1	SYT7	11	61291312	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	242895	61291312	73715204	1483	59697											
RAB3IL1	5866	broad.mit.edu	37	chr11	61672226	61672226	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccctgccatgcctcacCtcctgcattgtgaagtccag	6	9	8	18	1	1	1	1	1	0	0	3	1	3	1	8	0	3	1	8	0	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:61672226C>T	ENST00000394836.2	-	6	943	c.786_splice	c.e6+1	p.E262_splice	RAB3IL1_ENST00000301773.5_Splice_Site_p.E236_splice	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	262							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CATGCCTCACCTCCTGCATTG	0.682													5	4					0	0	0	0	T	61672226	C	T	61672226	5	4	328	1	0	0	0	0	0	0	1	0	13019	695	24	4	382	4	RAB3IL1	11	61672226	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	380914	61672226	73334290	1484	59698											
AHNAK	79026	broad.mit.edu	37	chr11	62290619	62290619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacatcgcccttgactttgGggcccttcaggtttaaatca	8	12	8	13	1	2	1	2	1	0	0	3	1	2	1	3	3	0	1	3	3	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:62290619G>A	ENST00000378024.4	-	5	11544	c.11270C>T	c.(11269-11271)cCc>cTc	p.P3757L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3757					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGACTTTGGGGCCCTTCAG	0.468													64	86					0	0	0	0	A	62290619	G	A	62290619	3	1	328	1	0	0	0	0	1	0	0	0	414	1232	43	4	6522	4	AHNAK	11	62290619	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	618393	62290619	72715897	1485	59699											
METTL12	751071	broad.mit.edu	37	chr11	62434119	62434119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagtggatgtgctgggggtgGacttttctcctgtggctgtg	3	14	17	7	0	1	0	0	0	1	0	2	2	1	2	1	5	1	2	1	5	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:62434119G>A	ENST00000532971.1	+	3	576	c.319G>A	c.(319-321)Gac>Aac	p.D107N	C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000431002.2_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	107						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GCTGGGGGTGGACTTTTCTCC	0.592													21	45					0	0	0	0	A	62434119	G	A	62434119	3	1	328	1	0	0	0	0	1	0	0	0	9565	1174	41	2	325	2	METTL12	11	62434119	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	143500	62434119	72572397	1486	59700											
RTN3	10313	broad.mit.edu	37	chr11	63486458	63486458	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccttctattccagccagtTtcccagagcatcctgctttt	6	15	6	14	0	1	1	0	0	1	1	5	1	5	1	5	0	3	3	5	0	1	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:63486458T>A	ENST00000377819.5	+	3	638	c.484T>A	c.(484-486)Ttc>Atc	p.F162I	RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.F143I|RTN3_ENST00000540798.1_Missense_Mutation_p.F50I|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	162					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCCAGCCAGTTTCCCAGAGCA	0.458													30	38					0	0	0	0	A	63486458	T	A	63486458	3	1	328	1	0	0	0	0	1	0	0	0	13812	1841	64	5	494	5	RTN3	11	63486458	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1052339	63486458	71520058	1487	59701											
STIP1	10963	broad.mit.edu	37	chr11	63963214	63963214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagattgcaacacctccaCcaccaccccctcccaaaaag	15	4	4	18	0	0	1	0	0	0	1	2	2	2	1	7	0	2	1	7	0	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:63963214C>T	ENST00000358794.5	+	5	1295	c.742C>T	c.(742-744)Cca>Tca	p.P248S	STIP1_ENST00000543847.1_Missense_Mutation_p.P201S|STIP1_ENST00000538945.1_Missense_Mutation_p.P177S|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000305218.4_Missense_Mutation_p.P201S			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	201					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AACACCTCCACCACCACCCCC	0.507													21	49					0	0	0	0	T	63963214	C	T	63963214	3	4	328	1	0	0	0	0	1	0	0	0	15375	507	18	4	619	4	STIP1	11	63963214	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	476756	63963214	71043302	1488	59702											
BAD	572	broad.mit.edu	37	chr11	64037639	64037639	+	Silent	SNP	G	G	A																															atattcaagatggctgcccaGggcagtgggaacgggtggag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64037639G>A	ENST00000544785.1	-	2	358	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	BAD_ENST00000394532.3_3'UTR|BAD_ENST00000309032.3_3'UTR			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	0					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						TGGCTGCCCAGGGCAGTGGGA	0.597													14	15					0	0	0	0	A	64037639	G	A	64037639	2	1	328	1	0	0	0	0	0	0	0	1	1289	1015	35	4		4	BAD	11	64037639	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	74425	64037639	70968877	1489	59703	611	2									
BAD	572	broad.mit.edu	37	chr11	64037640	64037640	+	Silent	SNP	G	G	A																															tattcaagatggctgcccagGgcagtgggaacgggtggagt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64037640G>A	ENST00000544785.1	-	2	357	c.357C>T	c.(355-357)gcC>gcT	p.A119A	BAD_ENST00000394532.3_3'UTR|BAD_ENST00000309032.3_3'UTR			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	0					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GGCTGCCCAGGGCAGTGGGAA	0.597													14	15					0	0	0	0	A	64037640	G	A	64037640	2	1	328	1	0	0	0	0	0	0	0	1	1289	1247	43	4		4	BAD	11	64037640	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	64037640	70968876	1490	59704	611	2									
NRXN2	9379	broad.mit.edu	37	chr11	64398030	64398030	+	Missense_Mutation	SNP	C	C	T																															gcccacgttaaagatcacccCcacggtgccctggtcctggg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64398030C>T	ENST00000265459.6	-	19	4062	c.3601G>A	c.(3601-3603)Ggg>Agg	p.G1201R	NRXN2_ENST00000377551.1_Missense_Mutation_p.G1201R|NRXN2_ENST00000301894.2_Missense_Mutation_p.G155R|NRXN2_ENST00000409571.1_Missense_Mutation_p.G1194R|NRXN2_ENST00000377559.3_Missense_Mutation_p.G1161R	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1201	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AAGATCACCCCCACGGTGCCC	0.592													11	30					0	0	0	0	T	64398030	C	T	64398030	3	4	328	1	0	0	0	0	1	0	0	0	10737	623	22	4	1557	4	NRXN2	11	64398030	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	360390	64398030	70608486	1491	59705	612	2									
NRXN2	9379	broad.mit.edu	37	chr11	64398031	64398031	+	Silent	SNP	C	C	T																															cccacgttaaagatcaccccCacggtgccctggtcctgggg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64398031C>T	ENST00000265459.6	-	19	4061	c.3600G>A	c.(3598-3600)gtG>gtA	p.V1200V	NRXN2_ENST00000377551.1_Silent_p.V1200V|NRXN2_ENST00000301894.2_Silent_p.V154V|NRXN2_ENST00000409571.1_Silent_p.V1193V|NRXN2_ENST00000377559.3_Silent_p.V1160V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1200	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGATCACCCCCACGGTGCCCT	0.592													11	30					0	0	0	0	T	64398031	C	T	64398031	2	4	328	1	0	0	0	0	0	0	0	1	10737	581	21	4		4	NRXN2	11	64398031	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	64398031	70608485	1492	59706	612	2									
PYGM	5837	broad.mit.edu	37	chr11	64521441	64521441	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accggccagcgctccagggcCtcgggcagcaccgtgtggtt	5	6	15	15	4	0	0	0	0	0	0	2	0	1	0	5	4	2	4	5	4	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64521441C>T	ENST00000164139.3	-	10	1547	c.1149G>A	c.(1147-1149)gaG>gaA	p.E383E	PYGM_ENST00000377432.3_Silent_p.E295E	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	383					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCTCCAGGGCCTCGGGCAGCA	0.647													3	10					0	0	0	0	T	64521441	C	T	64521441	2	4	328	1	0	0	0	0	0	0	0	1	12944	680	24	4		4	PYGM	11	64521441	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	123410	64521441	70485075	1493	59707											
CDC42BPG	55561	broad.mit.edu	37	chr11	64595054	64595054	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcggtgccgtagaggaaCagggagccctctggattgag	8	9	15	9	2	2	2	0	1	2	1	3	5	2	5	2	4	3	1	2	4	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64595054C>T	ENST00000342711.5	-	32	4094	c.4095G>A	c.(4093-4095)ctG>ctA	p.L1365L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1365	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CGTAGAGGAACAGGGAGCCCT	0.682													8	18					0	0	0	0	T	64595054	C	T	64595054	2	4	328	1	0	0	0	0	0	0	0	1	3103	465	17	4		4	CDC42BPG	11	64595054	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	73613	64595054	70411462	1494	59708											
SPDYC	387778	broad.mit.edu	37	chr11	64938844	64938844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagatgagtgactcccaaGaccccaccacttcccctgta	11	8	7	15	0	0	4	0	3	0	2	2	5	2	4	6	0	0	1	6	0	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64938844G>A	ENST00000377185.2	+	2	155	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	25					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TGACTCCCAAGACCCCACCAC	0.582													41	83					0	0	0	0	A	64938844	G	A	64938844	3	1	328	1	0	0	0	0	1	0	0	0	15118	942	33	2	79	2	SPDYC	11	64938844	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	343790	64938844	70067672	1495	59709											
OVOL1	5017	broad.mit.edu	37	chr11	65562633	65562633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacgcgtacaaggagcggCgggccaagctgtacgtgtgt	9	7	16	9	5	0	0	0	0	0	0	0	1	0	1	1	3	5	4	1	3	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:65562633C>T	ENST00000335987.3	+	4	977	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	OVOL1_ENST00000532448.1_Missense_Mutation_p.R147W	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	209					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CAAGGAGCGGCGGGCCAAGCT	0.617													15	19					0	0	0	0	T	65562633	C	T	65562633	3	4	328	1	0	0	0	0	1	0	0	0	11397	759	27	1	639	1	OVOL1	11	65562633	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	623789	65562633	69443883	1496	59710											
SF3B2	10992	broad.mit.edu	37	chr11	65826342	65826342	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaaagaagaagaaaaagccCcagcgggtgcgaggggtgtc	14	3	16	8	3	0	3	0	0	0	3	1	5	0	3	2	3	3	0	2	3	5	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:65826342C>T	ENST00000528302.1	+	9	1011	c.957C>T	c.(955-957)ccC>ccT	p.P319P	SF3B2_ENST00000322535.6_Silent_p.P336P			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	336					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGAAAAAGCCCCAGCGGGTGC	0.572													20	50					0	0	0	0	T	65826342	C	T	65826342	2	4	328	1	0	0	0	0	0	0	0	1	14238	610	22	4		4	SF3B2	11	65826342	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	263709	65826342	69180174	1497	59711											
SLC29A2	3177	broad.mit.edu	37	chr11	66133980	66133980	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gattccggctccttctccagGtcaagatccagggtcagagc	8	9	11	13	1	3	2	2	0	1	2	7	3	6	2	4	3	1	1	4	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:66133980G>A	ENST00000357440.2	-	8	1017	c.789C>T	c.(787-789)gaC>gaT	p.D263D	SLC29A2_ENST00000546034.1_Silent_p.D263D|SLC29A2_ENST00000544554.1_Silent_p.D263D|SLC29A2_ENST00000311161.7_Intron	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	263					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						CCTTCTCCAGGTCAAGATCCA	0.567													17	31					0	0	0	0	A	66133980	G	A	66133980	2	1	328	1	0	0	0	0	0	0	0	1	14623	1252	44	4		4	SLC29A2	11	66133980	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	307638	66133980	68872536	1498	59712											
NPAS4	266743	broad.mit.edu	37	chr11	66190641	66190641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgaactgctttgtaaatCatggtatggactgctgcacc	10	12	10	9	0	1	1	1	1	0	0	1	2	1	2	1	2	4	5	1	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:66190641C>T	ENST00000311034.2	+	5	922	c.746C>T	c.(745-747)tCa>tTa	p.S249L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	249	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTTTGTAAATCATGGTATGGA	0.537													4	11					0	0	0	0	T	66190641	C	T	66190641	3	4	328	1	0	0	0	0	1	0	0	0	10635	838	29	2	764	2	NPAS4	11	66190641	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	56661	66190641	68815875	1499	59713											
CCDC87	55231	broad.mit.edu	37	chr11	66359329	66359329	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccctgcagctgggtgacgGgtcacaacccccaggagagg	8	5	15	13	1	1	2	1	1	0	1	1	3	1	2	3	4	4	2	3	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:66359329G>A	ENST00000333861.3	-	1	1225	c.1158C>T	c.(1156-1158)acC>acT	p.T386T		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	386										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTGGGTGACGGGTCACAACCC	0.607													32	42					0	0	0	0	A	66359329	G	A	66359329	2	1	328	1	0	0	0	0	0	0	0	1	2889	1219	43	4		4	CCDC87	11	66359329	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	168688	66359329	68647187	1500	59714											
RBM4B	83759	broad.mit.edu	37	chr11	66444242	66444243	+	Frame_Shift_Del	DEL	CG	CG	-																															acgatgtcacattcgatgacCggaccatactcctcaaactt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:66444242_66444243delCG	ENST00000525754.1	-	1	976_977	c.308_309delCG	c.(307-309)cfs	p.P103fs	RBM4B_ENST00000310046.4_Frame_Shift_Del_p.P103fs|RBM4B_ENST00000531969.1_Frame_Shift_Del_p.P103fs|RBM4B_ENST00000531036.2_Frame_Shift_Del_p.P103fs|RBM4B_ENST00000524637.1_Frame_Shift_Del_p.P103fs			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	103	RRM 2.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						ATTCGATGACCGGACCATACTC	0.5													51	146	---	---	---	---					-	66444243	CG	-	66444242	7	5	328	1	0	1	0	1	0	0	0	0	13224	639	23	0	778	0	RBM4B	11	66444242	Frame_Shift_Del	DEL	CG	TCGA-CV-7568-01A-11D-2229-08	84913	66444242	68562274	1501	59715											
ANKRD13D	338692	broad.mit.edu	37	chr11	67067492	67067492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagcaggcagccagccccaCcaaccccacagccatctccc	10	2	7	22	0	1	0	0	0	1	0	2	0	1	0	8	1	5	3	8	1	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:67067492C>T	ENST00000447274.2	+	10	1885	c.710C>T	c.(709-711)aCc>aTc	p.T237I	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.T324I|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.T237I|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.T237I			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	237										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCAGCCCCACCAACCCCACA	0.667													20	30					0	0	0	0	T	67067492	C	T	67067492	3	4	328	1	0	0	0	0	1	0	0	0	644	507	18	4	1009	4	ANKRD13D	11	67067492	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	623250	67067492	67939024	1502	59716											
CORO1B	57175	broad.mit.edu	37	chr11	67207899	67207899	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcagggccatgggttcCtcgaggttttcctggcacat	5	12	12	12	1	0	0	0	0	0	0	4	1	3	0	4	4	1	4	4	4	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:67207899C>T	ENST00000393893.1	-	8	871	c.768G>A	c.(766-768)gaG>gaA	p.E256E	CORO1B_ENST00000341356.5_Silent_p.E256E	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	256					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCATGGGTTCCTCGAGGTTTT	0.627													15	39					0	0	0	0	T	67207899	C	T	67207899	2	4	328	1	0	0	0	0	0	0	0	1	3784	680	24	4		4	CORO1B	11	67207899	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	140407	67207899	67798617	1503	59717											
ALDH3B2	222	broad.mit.edu	37	chr11	67433603	67433603	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccccctcacctgtgaagaaGatgtagtccaacttgtgctc	9	10	9	13	0	1	3	1	1	0	2	3	3	2	3	4	0	2	2	4	0	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:67433603G>A	ENST00000349015.3	-	6	747	c.309C>T	c.(307-309)atC>atT	p.I103I	ALDH3B2_ENST00000530069.1_Silent_p.I103I	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	103					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CTGTGAAGAAGATGTAGTCCA	0.637													37	62					0	0	0	0	A	67433603	G	A	67433603	2	1	328	1	0	0	0	0	0	0	0	1	500	932	33	2		2	ALDH3B2	11	67433603	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	225704	67433603	67572913	1504	59718											
LRP5	4041	broad.mit.edu	37	chr11	68115391	68115391	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcaagctggagtccacCatcgtggtcagcggcctgga	8	7	15	11	2	2	0	2	0	0	0	4	3	3	3	3	5	2	1	3	5	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68115391C>T	ENST00000294304.7	+	2	274	c.168C>T	c.(166-168)acC>acT	p.T56T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	56	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGAGTCCACCATCGTGGTCA	0.637													28	43					0	0	0	0	T	68115391	C	T	68115391	2	4	328	1	0	0	0	0	0	0	0	1	9024	581	21	4		4	LRP5	11	68115391	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	681788	68115391	66891125	1505	59719											
LRP5	4041	broad.mit.edu	37	chr11	68207318	68207318	+	Silent	SNP	C	C	T																															ggcggggtgcccctctacgaCcggaaccacgtcacaggggc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68207318C>T	ENST00000294304.7	+	21	4528	c.4422C>T	c.(4420-4422)gaC>gaT	p.D1474D		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1474					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTCTACGACCGGAACCACG	0.721													5	5					0	0	0	0	T	68207318	C	T	68207318	2	4	328	1	0	0	0	0	0	0	0	1	9024	506	18	4		4	LRP5	11	68207318	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	91927	68207318	66799198	1506	59720	613	2									
LRP5	4041	broad.mit.edu	37	chr11	68207319	68207319	+	Missense_Mutation	SNP	C	C	T																															gcggggtgcccctctacgacCggaaccacgtcacaggggcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68207319C>T	ENST00000294304.7	+	21	4529	c.4423C>T	c.(4423-4425)Cgg>Tgg	p.R1475W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1475					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCTACGACCGGAACCACGT	0.721													5	5					0	0	0	0	T	68207319	C	T	68207319	3	4	328	1	0	0	0	0	1	0	0	0	9024	643	23	1	4505	1	LRP5	11	68207319	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	68207319	66799197	1507	59721	613	2									
MTL5	9633	broad.mit.edu	37	chr11	68517757	68517757	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcgggtagcagcgaggacagGaagtgcacgttgcaggcggg	9	4	20	8	4	0	0	0	0	0	0	0	3	0	2	0	5	4	5	0	5	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68517757G>A	ENST00000443940.2	-	2	458	c.372C>T	c.(370-372)ttC>ttT	p.F124F	MTL5_ENST00000544963.1_Silent_p.F124F|MTL5_ENST00000255087.5_Silent_p.F124F			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	124					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GCGAGGACAGGAAGTGCACGT	0.736													5	7					0	0	0	0	A	68517757	G	A	68517757	2	1	328	1	0	0	0	0	0	0	0	1	10006	1165	41	2		2	MTL5	11	68517757	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	310438	68517757	66488759	1508	59722											
CPT1A	1374	broad.mit.edu	37	chr11	68552336	68552336	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccgggctgaggctccgaGgtattgtccaggatcctctg	5	10	13	13	2	1	1	0	1	1	0	5	3	5	2	5	4	0	3	5	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68552336G>A	ENST00000265641.5	-	10	1264	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	CPT1A_ENST00000539743.1_Silent_p.T370T|CPT1A_ENST00000376618.2_Silent_p.T370T|CPT1A_ENST00000540367.1_Silent_p.T370T	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	370					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GAGGCTCCGAGGTATTGTCCA	0.642													25	43					0	0	0	0	A	68552336	G	A	68552336	2	1	328	1	0	0	0	0	0	0	0	1	3861	987	35	4		4	CPT1A	11	68552336	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	34579	68552336	66454180	1509	59723											
TPCN2	219931	broad.mit.edu	37	chr11	68830447	68830447	+	Silent	SNP	G	G	A																															tgcatccgctggtcgctgccGgaaatggccaggtgggctct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68830447G>A	ENST00000294309.3	+	6	743	c.642G>A	c.(640-642)ccG>ccA	p.P214P	TPCN2_ENST00000542467.1_Silent_p.P214P|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	214					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTCGCTGCCGGAAATGGCCA	0.647													47	55					0	0	0	0	A	68830447	G	A	68830447	2	1	328	1	0	0	0	0	0	0	0	1	16491	1103	39	1		1	TPCN2	11	68830447	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	278111	68830447	66176069	1510	59724	614	2									
TPCN2	219931	broad.mit.edu	37	chr11	68830448	68830448	+	Missense_Mutation	SNP	G	G	A																															gcatccgctggtcgctgccgGaaatggccaggtgggctctt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68830448G>A	ENST00000294309.3	+	6	744	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	TPCN2_ENST00000542467.1_Missense_Mutation_p.E215K|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	215					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTCGCTGCCGGAAATGGCCAG	0.647													45	55					0	0	0	0	A	68830448	G	A	68830448	3	1	328	1	0	0	0	0	1	0	0	0	16491	1175	41	2	665	2	TPCN2	11	68830448	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	68830448	66176068	1511	59725	614	2									
ARHGEF17	9828	broad.mit.edu	37	chr11	73073652	73073652	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggagatgacgccgggcctCggcgagggtgacccccgccc	5	5	16	15	5	0	3	0	2	0	1	1	5	0	3	5	4	0	0	5	4	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:73073652C>T	ENST00000263674.3	+	14	5219	c.4869C>T	c.(4867-4869)ctC>ctT	p.L1623L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1623					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGCCGGGCCTCGGCGAGGGTG	0.701													16	15					0	0	0	0	T	73073652	C	T	73073652	2	4	328	1	0	0	0	0	0	0	0	1	902	871	31	1		1	ARHGEF17	11	73073652	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4243204	73073652	61932864	1512	59726											
MRPL48	51642	broad.mit.edu	37	chr11	73555875	73555875	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaagaagggaaaagtGgaagtgagagccattaattt	19	7	13	2	0	0	4	0	1	0	4	0	7	0	6	1	2	1	0	1	2	8	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:73555875G>T	ENST00000535529.1	+	6	383	c.171G>T	c.(169-171)gtG>gtT	p.V57V	MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000314282.7_5'UTR|MRPL48_ENST00000310614.7_Silent_p.V75V|MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000411840.2_5'UTR			Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	75					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						AGGGAAAAGTGGAAGTGAGAG	0.333													13	28					1.49906e-05	1.50627e-05	1	0	T	73555875	G	T	73555875	2	4	328	1	0	0	0	0	0	0	0	1	9882	1335	47	4		4	MRPL48	11	73555875	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	482223	73555875	61450641	1513	59727											
C2CD3	26005	broad.mit.edu	37	chr11	73785530	73785530	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggctgctgcagtccatGgagtccagctcatgagtggg	6	10	15	10	0	1	1	1	1	0	0	3	2	3	2	2	3	3	4	2	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:73785530G>A	ENST00000334126.7	-	24	4945	c.4719C>T	c.(4717-4719)tcC>tcT	p.S1573S	C2CD3_ENST00000313663.7_Silent_p.S1573S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1573						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGCAGTCCATGGAGTCCAGCT	0.542													15	27					0	0	0	0	A	73785530	G	A	73785530	2	1	328	1	0	0	0	0	0	0	0	1	2174	1335	47	4		4	C2CD3	11	73785530	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	229655	73785530	61220986	1514	59728											
CHRDL2	25884	broad.mit.edu	37	chr11	74414543	74414543	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcccgccatgcacacaGgctgaataaggagggtgaga	11	7	13	10	1	1	2	0	2	1	1	2	4	2	3	2	3	1	2	2	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:74414543G>A	ENST00000376332.3	-	8	1249	c.751_splice	c.e8-1	p.A251_splice	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Splice_Site_p.A251_splice	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	251	VWFC 3.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CATGCACACAGGCTGAATAAG	0.657													8	10					0	0	0	0	A	74414543	G	A	74414543	5	1	328	1	0	0	0	0	0	0	1	0	3403	1014	35	4	622	4	CHRDL2	11	74414543	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	629013	74414543	60591973	1515	59729											
XRRA1	143570	broad.mit.edu	37	chr11	74559421	74559421	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgcctctggctctagcatAtcctttgagggagacttggt	6	14	11	10	0	3	2	0	1	3	1	4	3	4	2	2	3	2	2	2	3	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:74559421A>C	ENST00000340360.6	-	15	1774	c.1443T>G	c.(1441-1443)gaT>gaG	p.D481E	XRRA1_ENST00000527087.1_Missense_Mutation_p.D394E|XRRA1_ENST00000321448.8_Missense_Mutation_p.D206E	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	481					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GCTCTAGCATATCCTTTGAGG	0.547													10	11					0	0	0	0	C	74559421	A	C	74559421	3	2	328	1	0	0	0	0	1	0	0	0	17557	446	16	5	955	5	XRRA1	11	74559421	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	144878	74559421	60447095	1516	59730											
PRKRIR	5612	broad.mit.edu	37	chr11	76062453	76062453	+	Missense_Mutation	SNP	G	G	A																															aataatgtgctccactgttgGgacacttagggtttctttat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:76062453G>A	ENST00000260045.3	-	5	1846	c.1741C>T	c.(1741-1743)Cca>Tca	p.P581S		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	581					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TCCACTGTTGGGACACTTAGG	0.423													24	48					0	0	0	0	A	76062453	G	A	76062453	3	1	328	1	0	0	0	0	1	0	0	0	12606	1232	43	4	548	4	PRKRIR	11	76062453	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1503032	76062453	58944063	1517	59731	615	2									
PRKRIR	5612	broad.mit.edu	37	chr11	76062454	76062454	+	Silent	SNP	G	G	A																															ataatgtgctccactgttggGacacttagggtttctttata																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:76062454G>A	ENST00000260045.3	-	5	1845	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	580					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CCACTGTTGGGACACTTAGGG	0.423													24	47					0	0	0	0	A	76062454	G	A	76062454	2	1	328	1	0	0	0	0	0	0	0	1	12606	1161	41	2		2	PRKRIR	11	76062454	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	76062454	58944062	1518	59732	615	2									
C11orf30	56946	broad.mit.edu	37	chr11	76174919	76174919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacgaaggcgaacaaactCttccagctcctctcctgttg	12	9	7	13	2	2	0	0	0	2	0	5	2	4	0	3	1	4	2	3	1	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:76174919C>T	ENST00000529032.1	+	6	626	c.626C>T	c.(625-627)tCt>tTt	p.S209F	C11orf30_ENST00000524490.1_Missense_Mutation_p.S210F|C11orf30_ENST00000343878.3_Missense_Mutation_p.S209F|C11orf30_ENST00000525919.1_Missense_Mutation_p.S210F|C11orf30_ENST00000334736.3_Missense_Mutation_p.S209F|C11orf30_ENST00000533248.1_Missense_Mutation_p.S223F|C11orf30_ENST00000524767.1_Missense_Mutation_p.S224F|C11orf30_ENST00000525038.1_Missense_Mutation_p.S224F			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	209	Interaction with BRCA2.|Poly-Ser.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CGAACAAACTCTTCCAGCTCC	0.443													64	99					0	0	0	0	T	76174919	C	T	76174919	3	4	328	1	0	0	0	0	1	0	0	0	1647	913	32	2	648	2	C11orf30	11	76174919	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	112465	76174919	58831597	1519	59733											
RSF1	51773	broad.mit.edu	37	chr11	77412960	77412960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctccatttaccagctgtttCccttcatgacccaaagcagt	9	13	5	14	0	2	1	1	1	1	0	4	1	3	1	4	0	3	3	4	0	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:77412960C>T	ENST00000308488.6	-	6	1616	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	RSF1_ENST00000480887.1_Silent_p.G186G|RSF1_ENST00000360355.2_Silent_p.G407G			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	438					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCAGCTGTTTCCCTTCATGAC	0.363													23	48					0	0	0	0	T	77412960	C	T	77412960	2	4	328	1	0	0	0	0	0	0	0	1	13784	842	30	2		2	RSF1	11	77412960	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1238041	77412960	57593556	1520	59734											
TMEM135	65084	broad.mit.edu	37	chr11	86778790	86778790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attatttacacaaactactcCctgagatcctacaatccgct	13	12	3	13	1	0	1	0	1	0	1	3	2	3	1	3	0	4	1	3	0	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:86778790C>T	ENST00000340353.7	+	2	398	c.196C>T	c.(196-198)Cct>Tct	p.P66S	TMEM135_ENST00000305494.5_Missense_Mutation_p.P66S|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000535167.1_5'UTR|TMEM135_ENST00000355734.4_Missense_Mutation_p.P66S	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	66						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAAACTACTCCCTGAGATCCT	0.373													25	41					0	0	0	0	T	86778790	C	T	86778790	3	4	328	1	0	0	0	0	1	0	0	0	16145	623	22	4	202	4	TMEM135	11	86778790	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	9365830	86778790	48227726	1521	59735											
TMEM135	65084	broad.mit.edu	37	chr11	87032374	87032374	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgcccacagagttttcctGaagatgactgtaacttatta	11	14	8	8	0	0	4	0	2	0	2	1	4	1	4	2	0	2	3	2	0	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:87032374G>A	ENST00000340353.7	+	14	1512	c.1310G>A	c.(1309-1311)tGa>tAa	p.*437*	TMEM135_ENST00000305494.5_Silent_p.*459*|TMEM135_ENST00000532959.1_Silent_p.*330*|TMEM135_ENST00000535167.1_Silent_p.*320*	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	0						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAGTTTTCCTGAAGATGACTG	0.403													24	44					0	0	0	0	A	87032374	G	A	87032374	2	1	328	1	0	0	0	0	0	0	0	1	16145	1285	45	2		2	TMEM135	11	87032374	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	253584	87032374	47974142	1522	59736											
FOLH1B	219595	broad.mit.edu	37	chr11	89405125	89405125	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaccctcagagtggagcAgctgttgttcatgaaactgt	10	12	11	8	0	2	3	2	2	0	1	2	4	2	4	1	1	3	4	1	1	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:89405125A>T	ENST00000532352.1	+	0	1065							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGAGTGGAGCAGCTGTTGTTC	0.418													25	43					0	0	0	0	T	89405125	A	T	89405125	1	4	328	0	1	0	0	0	0	0	0	0	6025	175	7	5		5	FOLH1B	11	89405125	RNA	SNP	A	TCGA-CV-7568-01A-11D-2229-08	2372751	89405125	45601391	1523	59737											
FOLH1B	219595	broad.mit.edu	37	chr11	89431691	89431691	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggacccttccaaggcctgggGagatgtgaagagacagattt	11	8	14	8	0	0	4	0	1	0	3	1	7	1	5	3	4	0	0	3	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:89431691G>A	ENST00000532352.1	+	0	1973							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAGGCCTGGGGAGATGTGAAG	0.473													43	79					0	0	0	0	A	89431691	G	A	89431691	1	1	328	0	1	0	0	0	0	0	0	0	6025	1174	41	2		2	FOLH1B	11	89431691	RNA	SNP	G	TCGA-CV-7568-01A-11D-2229-08	26566	89431691	45574825	1524	59738											
FAT3	120114	broad.mit.edu	37	chr11	92085508	92085508	+	Nonsense_Mutation	SNP	G	G	A																															caccttaatagatctatcctGggatatcaaatacagaatag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92085508G>A	ENST00000298047.6	+	1	247	c.230G>A	c.(229-231)tGg>tAg	p.W77*	FAT3_ENST00000541502.1_Nonsense_Mutation_p.W77*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.W77*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	77	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.W77L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATCTATCCTGGGATATCAAA	0.408										TCGA Ovarian(4;0.039)			15	32					0	0	0	0	A	92085508	G	A	92085508	4	1	328	1	0	0	0	0	0	1	0	0	5736	1357	47	4	232	4	FAT3	11	92085508	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2653817	92085508	42921008	1525	59739	616	2									
FAT3	120114	broad.mit.edu	37	chr11	92085509	92085509	+	Nonsense_Mutation	SNP	G	G	A																															accttaatagatctatcctgGgatatcaaatacagaatagt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92085509G>A	ENST00000298047.6	+	1	248	c.231G>A	c.(229-231)tgG>tgA	p.W77*	FAT3_ENST00000541502.1_Nonsense_Mutation_p.W77*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.W77*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	77	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCTATCCTGGGATATCAAAT	0.413										TCGA Ovarian(4;0.039)			15	32					0	0	0	0	A	92085509	G	A	92085509	4	1	328	1	0	0	0	0	0	1	0	0	5736	1241	43	4	233	4	FAT3	11	92085509	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	92085509	42921007	1526	59740	616	2									
FAT3	120114	broad.mit.edu	37	chr11	92086231	92086231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttcttcctggctaaggaagGaaagtggttgaatgagtaca	12	11	13	5	0	1	2	0	2	1	0	2	4	2	4	1	4	1	4	1	4	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92086231G>A	ENST00000298047.6	+	1	970	c.953G>A	c.(952-954)gGa>gAa	p.G318E	FAT3_ENST00000541502.1_Missense_Mutation_p.G318E|FAT3_ENST00000409404.2_Missense_Mutation_p.G318E|FAT3_ENST00000525166.1_Missense_Mutation_p.G168E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	318	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTAAGGAAGGAAAGTGGTTG	0.448										TCGA Ovarian(4;0.039)			15	17					0	0	0	0	A	92086231	G	A	92086231	3	1	328	1	0	0	0	0	1	0	0	0	5736	1174	41	2	955	2	FAT3	11	92086231	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	722	92086231	42920285	1527	59741											
FAT3	120114	broad.mit.edu	37	chr11	92088500	92088500	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgagatgaagactccggaagGgatggagagatccagtactc	13	6	14	8	2	0	4	0	1	0	3	3	9	2	7	2	3	1	1	2	3	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92088500G>A	ENST00000298047.6	+	1	3239	c.3222G>A	c.(3220-3222)agG>agA	p.R1074R	FAT3_ENST00000541502.1_Silent_p.R1074R|FAT3_ENST00000409404.2_Silent_p.R1074R|FAT3_ENST00000525166.1_Silent_p.R924R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1074	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTCCGGAAGGGATGGAGAGA	0.478										TCGA Ovarian(4;0.039)			19	25					0	0	0	0	A	92088500	G	A	92088500	2	1	328	1	0	0	0	0	0	0	0	1	5736	1223	43	4		4	FAT3	11	92088500	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2269	92088500	42918016	1528	59742											
FAT3	120114	broad.mit.edu	37	chr11	92531002	92531002	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cattgatttctgtattttagGgaacactgggaacatgttta	11	16	9	5	0	1	1	0	1	1	0	1	3	1	3	0	2	2	2	0	2	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92531002G>A	ENST00000298047.6	+	9	4840	c.4822_splice	c.e9-1	p.G1608_splice	FAT3_ENST00000409404.2_Splice_Site_p.G1608_splice|FAT3_ENST00000525166.1_Splice_Site_p.G1458_splice			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1608	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTATTTTAGGGAACACTGGG	0.408										TCGA Ovarian(4;0.039)			39	44					0	0	0	0	A	92531002	G	A	92531002	5	1	328	1	0	0	0	0	0	0	1	0	5736	1246	43	4	4857	4	FAT3	11	92531002	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	442502	92531002	42475514	1529	59743											
FAT3	120114	broad.mit.edu	37	chr11	92531550	92531550	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaatagcattgtcaggagcTtggataacagcccactggtg	11	11	11	8	0	1	0	1	0	0	0	1	2	1	2	1	3	4	2	1	3	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92531550T>C	ENST00000298047.6	+	9	5388	c.5371T>C	c.(5371-5373)Ttg>Ctg	p.L1791L	FAT3_ENST00000409404.2_Silent_p.L1791L|FAT3_ENST00000525166.1_Silent_p.L1641L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1791	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTCAGGAGCTTGGATAACAG	0.438										TCGA Ovarian(4;0.039)			11	11					0	0	0	0	C	92531550	T	C	92531550	2	2	328	1	0	0	0	0	0	0	0	1	5736	1606	56	5		5	FAT3	11	92531550	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	548	92531550	42474966	1530	59744											
FAT3	120114	broad.mit.edu	37	chr11	92577555	92577555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggttccggcgcaccctgcgGaatgcagtcctcacccagaa	8	6	12	15	3	1	1	1	0	0	1	3	2	3	2	4	3	2	3	4	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92577555G>A	ENST00000298047.6	+	18	11039	c.11022G>A	c.(11020-11022)cgG>cgA	p.R3674R	FAT3_ENST00000409404.2_Silent_p.R3674R|FAT3_ENST00000533797.1_Silent_p.R9R|FAT3_ENST00000525166.1_Silent_p.R3524R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3674					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCACCCTGCGGAATGCAGTCC	0.587										TCGA Ovarian(4;0.039)			21	24					0	0	0	0	A	92577555	G	A	92577555	2	1	328	1	0	0	0	0	0	0	0	1	5736	1161	41	2		2	FAT3	11	92577555	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	46005	92577555	42428961	1531	59745											
SLC36A4	120103	broad.mit.edu	37	chr11	92901171	92901171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaaacgttggcaaggaatGaaagtacaaatagattcttt	16	11	10	4	1	1	2	0	1	1	1	1	4	1	4	0	3	2	3	0	3	7	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92901171G>A	ENST00000326402.4	-	7	837	c.707C>T	c.(706-708)tCa>tTa	p.S236L	SLC36A4_ENST00000529184.1_Missense_Mutation_p.S101L	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	236					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCAAGGAATGAAAGTACAAA	0.328													23	36					0	0	0	0	A	92901171	G	A	92901171	3	1	328	1	0	0	0	0	1	0	0	0	14684	1294	45	2	827	2	SLC36A4	11	92901171	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	323616	92901171	42105345	1532	59746											
CCDC67	159989	broad.mit.edu	37	chr11	93088609	93088609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtaagcaacaagaaaatGgattgggaaagaaagatgcg	19	6	13	3	1	0	3	0	0	0	3	0	5	0	5	0	3	3	2	0	3	7	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:93088609G>A	ENST00000298050.3	+	3	202	c.102G>A	c.(100-102)atG>atA	p.M34I	CCDC67_ENST00000527307.1_Missense_Mutation_p.M34I|CCDC67_ENST00000530053.1_3'UTR	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	34										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ACAAGAAAATGGATTGGGAAA	0.403													13	36					0	0	0	0	A	93088609	G	A	93088609	3	1	328	1	0	0	0	0	1	0	0	0	2866	1348	47	4	108	4	CCDC67	11	93088609	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	187438	93088609	41917907	1533	59747											
HEPHL1	341208	broad.mit.edu	37	chr11	93821974	93821974	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctctcgagaggcatgggtCagatctatgaggtcagcagc	10	8	13	10	1	4	3	2	1	2	2	5	4	4	3	1	3	2	2	1	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:93821974C>T	ENST00000315765.9	+	12	2142	c.2134C>T	c.(2134-2136)Cag>Tag	p.Q712*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	712	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGGCATGGGTCAGATCTATGA	0.502													15	23					0	0	0	0	T	93821974	C	T	93821974	4	4	328	1	0	0	0	0	0	1	0	0	7105	827	29	2	2180	2	HEPHL1	11	93821974	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	733365	93821974	41184542	1534	59748											
HEPHL1	341208	broad.mit.edu	37	chr11	93822041	93822041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggtacgggatgataagaaCtttttacatcgccgctgaag	11	10	12	8	4	0	3	0	2	0	1	1	4	0	4	1	2	3	2	1	2	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:93822041C>T	ENST00000315765.9	+	12	2209	c.2201C>T	c.(2200-2202)aCt>aTt	p.T734I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	734	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATGATAAGAACTTTTTACATC	0.527													27	48					0	0	0	0	T	93822041	C	T	93822041	3	4	328	1	0	0	0	0	1	0	0	0	7105	565	20	4	2247	4	HEPHL1	11	93822041	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	67	93822041	41184475	1535	59749											
PANX1	24145	broad.mit.edu	37	chr11	93911558	93911558	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcccctacatcctgctgctCtttgcgatcctcctgtacct	4	15	5	17	1	1	0	0	0	1	0	5	1	5	0	6	0	5	3	6	0	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:93911558C>T	ENST00000227638.3	+	3	730	c.345C>T	c.(343-345)ctC>ctT	p.L115L	PANX1_ENST00000436171.2_Silent_p.L115L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	115					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTGCTGCTCTTTGCGATCC	0.478													30	44					0	0	0	0	T	93911558	C	T	93911558	2	4	328	1	0	0	0	0	0	0	0	1	11491	900	32	2		2	PANX1	11	93911558	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	89517	93911558	41094958	1536	59750											
CNTN5	53942	broad.mit.edu	37	chr11	100061937	100061937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaagtacgtttgccgagggGaaaacgtctttggttctgct	9	12	13	7	3	2	0	0	0	2	0	2	3	2	1	1	3	4	4	1	3	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:100061937G>A	ENST00000524871.1	+	14	1950	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	CNTN5_ENST00000279463.3_Missense_Mutation_p.E554K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E554K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.E480K|CNTN5_ENST00000527185.1_Missense_Mutation_p.E554K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	554	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTGCCGAGGGGAAAACGTCTT	0.408													11	19					0	0	0	0	A	100061937	G	A	100061937	3	1	328	1	0	0	0	0	1	0	0	0	3674	1175	41	2	1706	2	CNTN5	11	100061937	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6150379	100061937	34944579	1537	59751											
PGR	5241	broad.mit.edu	37	chr11	100933207	100933207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttagaccacttgactactGaaagaagttgcctctcgcct	11	12	7	11	1	1	4	0	2	1	2	2	4	1	4	3	0	2	1	3	0	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:100933207G>A	ENST00000325455.5	-	4	3636	c.2183C>T	c.(2182-2184)tCa>tTa	p.S728L	PGR_ENST00000534013.1_Missense_Mutation_p.S134L|PGR_ENST00000263463.5_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	728	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTTGACTACTGAAAGAAGTTG	0.343													41	67					0	0	0	0	A	100933207	G	A	100933207	3	1	328	1	0	0	0	0	1	0	0	0	11877	1294	45	2	638	2	PGR	11	100933207	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	871270	100933207	34073309	1538	59752											
ANGPTL5	253935	broad.mit.edu	37	chr11	101776514	101776514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagcttgttgctcatcCatcatattccttagtagttt	10	16	7	8	0	2	0	2	0	0	0	4	1	4	1	2	1	2	5	2	1	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:101776514C>T	ENST00000334289.3	-	4	901	c.306G>A	c.(304-306)atG>atA	p.M102I		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	102					signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GTTGCTCATCCATCATATTCC	0.303													12	17					0	0	0	0	T	101776514	C	T	101776514	3	4	328	1	0	0	0	0	1	0	0	0	617	594	21	4	884	4	ANGPTL5	11	101776514	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	843307	101776514	33230002	1539	59753											
MMP20	9313	broad.mit.edu	37	chr11	102465488	102465488	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acctgccgtctccagaaaatCctatgggacattccaaaaaa	15	8	6	12	1	1	1	0	0	1	1	4	2	3	2	5	1	1	0	5	1	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:102465488C>T	ENST00000260228.2	-	7	966	c.953_splice	c.e7-1	p.R318_splice	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	318	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TCCAGAAAATCCTATGGGACA	0.418													9	19					0	0	0	0	T	102465488	C	T	102465488	5	4	328	1	0	0	0	0	0	0	1	0	9728	869	30	2	513	2	MMP20	11	102465488	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	688974	102465488	32541028	1540	59754											
MMP27	64066	broad.mit.edu	37	chr11	102567175	102567175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtcagggtcacaggcatGgggtatagtgggttcctttg	8	11	15	7	0	2	0	2	0	0	0	3	0	3	0	1	5	0	3	1	5	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:102567175G>A	ENST00000260229.4	-	6	920	c.829C>T	c.(829-831)Cat>Tat	p.H277Y		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	277					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TCACAGGCATGGGGTATAGTG	0.413													28	52					0	0	0	0	A	102567175	G	A	102567175	3	1	328	1	0	0	0	0	1	0	0	0	9734	1348	47	4	732	4	MMP27	11	102567175	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	101687	102567175	32439341	1541	59755											
PDGFD	80310	broad.mit.edu	37	chr11	103866937	103866937	+	Silent	SNP	G	G	A																															cgtcctctaataatggtactGgtttcggatatatcttcaac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:103866937G>A	ENST00000302251.5	-	3	799	c.348C>T	c.(346-348)acC>acT	p.T116T	PDGFD_ENST00000393158.2_Silent_p.T122T	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	122	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TAATGGTACTGGTTTCGGATA	0.338													16	33					0	0	0	0	A	103866937	G	A	103866937	2	1	328	1	0	0	0	0	0	0	0	1	11731	1335	47	4		4	PDGFD	11	103866937	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1299762	103866937	31139579	1542	59756	617	2									
PDGFD	80310	broad.mit.edu	37	chr11	103866938	103866938	+	Missense_Mutation	SNP	G	G	A																															gtcctctaataatggtactgGtttcggatatatcttcaact																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:103866938G>A	ENST00000302251.5	-	3	798	c.347C>T	c.(346-348)aCc>aTc	p.T116I	PDGFD_ENST00000393158.2_Missense_Mutation_p.T122I	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	122	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		AATGGTACTGGTTTCGGATAT	0.343													16	33					0	0	0	0	A	103866938	G	A	103866938	3	1	328	1	0	0	0	0	1	0	0	0	11731	1261	44	4	767	4	PDGFD	11	103866938	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	103866938	31139578	1543	59757	617	2									
GRIA4	2893	broad.mit.edu	37	chr11	105775945	105775945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgaattcaagggctgacagGgaatgttcagtttgaccact	11	11	11	8	1	2	2	2	2	0	0	3	4	2	3	1	2	0	3	1	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:105775945G>A	ENST00000393127.2	+	9	1522	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	GRIA4_ENST00000393125.2_Missense_Mutation_p.G359E|GRIA4_ENST00000282499.5_Missense_Mutation_p.G359E|GRIA4_ENST00000530497.1_Missense_Mutation_p.G359E|GRIA4_ENST00000525187.1_Missense_Mutation_p.G359E|GRIA4_ENST00000428631.2_Missense_Mutation_p.G359E	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	359					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGGCTGACAGGGAATGTTCAG	0.408													18	37					0	0	0	0	A	105775945	G	A	105775945	3	1	328	1	0	0	0	0	1	0	0	0	6820	1232	43	4	1106	4	GRIA4	11	105775945	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1909007	105775945	29230571	1544	59758											
GRIA4	2893	broad.mit.edu	37	chr11	105804674	105804674	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaggctatggagtagcaaCgcccaagggttcctcattaa	13	8	10	10	1	1	0	1	0	0	0	2	1	2	1	2	3	2	4	2	3	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:105804674C>G	ENST00000393127.2	+	14	2719	c.2273C>G	c.(2272-2274)aCg>aGg	p.T758R	GRIA4_ENST00000282499.5_Missense_Mutation_p.T758R|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000530497.1_Missense_Mutation_p.T758R|GRIA4_ENST00000525187.1_Missense_Mutation_p.T758R	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	758					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGAGTAGCAACGCCCAAGGGT	0.428													20	28					0	0	0	0	G	105804674	C	G	105804674	3	3	328	1	0	0	0	0	1	0	0	0	6820	536	19	3	2360	3	GRIA4	11	105804674	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	28729	105804674	29201842	1545	59759											
GUCY1A2	2977	broad.mit.edu	37	chr11	106681075	106681075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacatctcgggtggcatcatGgatagggatgtctgagagat	10	10	15	6	1	3	2	1	1	2	1	4	6	3	4	0	4	0	1	0	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:106681075G>A	ENST00000526355.1	-	5	1804	c.1336C>T	c.(1336-1338)Cat>Tat	p.H446Y	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.H446Y|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.H467Y	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	446					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.H446Y(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTGGCATCATGGATAGGGATG	0.443													22	50					0	0	0	0	A	106681075	G	A	106681075	3	1	328	1	0	0	0	0	1	0	0	0	6943	1348	47	4	878	4	GUCY1A2	11	106681075	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	876401	106681075	28325441	1546	59760											
ARHGAP20	57569	broad.mit.edu	37	chr11	110454415	110454415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgtgtaacaccccaaaaaGataccttaggagaacaacat	17	8	7	9	0	0	2	0	0	0	2	0	3	0	2	3	1	4	2	3	1	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:110454415G>A	ENST00000260283.4	-	14	1746	c.1462C>T	c.(1462-1464)Ctt>Ttt	p.L488F	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L462F|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.L31F|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L462F|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L452F|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L465F|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L452F	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	488	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ACCCCAAAAAGATACCTTAGG	0.388													14	18					0	0	0	0	A	110454415	G	A	110454415	3	1	328	1	0	0	0	0	1	0	0	0	872	942	33	2	2125	2	ARHGAP20	11	110454415	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3773340	110454415	24552101	1547	59761											
SIK2	23235	broad.mit.edu	37	chr11	111592632	111592632	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtccccacggcagagcCtggagacccagtacctgcag	9	5	12	15	1	0	2	0	0	0	2	1	3	1	2	5	2	4	4	5	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:111592632C>T	ENST00000304987.3	+	13	2196	c.2023C>T	c.(2023-2025)Ctg>Ttg	p.L675L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	675					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						ACGGCAGAGCCTGGAGACCCA	0.577													13	22					0	0	0	0	T	111592632	C	T	111592632	2	4	328	1	0	0	0	0	0	0	0	1	14406	680	24	4		4	SIK2	11	111592632	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1138217	111592632	23413884	1548	59762											
ANKK1	255239	broad.mit.edu	37	chr11	113270782	113270782	+	Silent	SNP	C	C	T																															gtgggctggacacccgcccaCctggccgccctcaagggcaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:113270782C>T	ENST00000303941.3	+	8	2185	c.2091C>T	c.(2089-2091)caC>caT	p.H697H		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	697							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CACCCGCCCACCTGGCCGCCC	0.627													24	29					0	0	0	0	T	113270782	C	T	113270782	2	4	328	1	0	0	0	0	0	0	0	1	631	506	18	4		4	ANKK1	11	113270782	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1678150	113270782	21735734	1549	59763	618	2									
ANKK1	255239	broad.mit.edu	37	chr11	113270783	113270783	+	Silent	SNP	C	C	T																															tgggctggacacccgcccacCtggccgccctcaagggcaac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:113270783C>T	ENST00000303941.3	+	8	2186	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	698							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		ACCCGCCCACCTGGCCGCCCT	0.627													24	28					0	0	0	0	T	113270783	C	T	113270783	2	4	328	1	0	0	0	0	0	0	0	1	631	680	24	4		4	ANKK1	11	113270783	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	113270783	21735733	1550	59764	618	2									
DRD2	1813	broad.mit.edu	37	chr11	113283503	113283503	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacgggtcggggagagtcaGctggtggtggctgggtggga	5	7	24	5	2	1	1	1	0	0	1	2	4	1	3	0	9	1	2	0	9	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:113283503G>A	ENST00000362072.3	-	7	1257	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	DRD2_ENST00000538967.1_Silent_p.L307L|DRD2_ENST00000346454.3_Silent_p.L276L|DRD2_ENST00000542968.1_Silent_p.L305L|DRD2_ENST00000355319.2_Silent_p.L307L|DRD2_ENST00000544518.1_Silent_p.L304L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	305	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GGGAGAGTCAGCTGGTGGTGG	0.657													25	44					0	0	0	0	A	113283503	G	A	113283503	2	1	328	1	0	0	0	0	0	0	0	1	4793	962	34	4		4	DRD2	11	113283503	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	12720	113283503	21723013	1551	59765											
CADM1	23705	broad.mit.edu	37	chr11	115047237	115047237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcggagttgttctgtcctCcttctgcattgattatagct	5	18	8	10	1	2	1	0	1	2	0	5	2	4	2	2	1	2	4	2	1	2	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:115047237C>T	ENST00000542447.2	-	9	1330	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	CADM1_ENST00000331581.6_Missense_Mutation_p.G458E|CADM1_ENST00000536727.1_Missense_Mutation_p.G430E|CADM1_ENST00000452722.2_Missense_Mutation_p.G429E|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000537058.1_Missense_Mutation_p.G440E	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	429					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GTTCTGTCCTCCTTCTGCATT	0.438													49	85					0	0	0	0	T	115047237	C	T	115047237	3	4	328	1	0	0	0	0	1	0	0	0	2591	855	30	2	46	2	CADM1	11	115047237	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1763734	115047237	19959279	1552	59766											
CEP164	22897	broad.mit.edu	37	chr11	117242148	117242148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagccaaagaagaaggcttCtgctctggaagagggcagtt	12	7	15	7	0	2	3	0	0	2	3	2	5	2	5	1	4	2	4	1	4	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:117242148C>T	ENST00000278935.3	+	9	1265	c.1118C>T	c.(1117-1119)tCt>tTt	p.S373F	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	373					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGAAGGCTTCTGCTCTGGAA	0.572													44	54					0	0	0	0	T	117242148	C	T	117242148	3	4	328	1	0	0	0	0	1	0	0	0	3278	913	32	2	1144	2	CEP164	11	117242148	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2194911	117242148	17764368	1553	59767											
DSCAML1	57453	broad.mit.edu	37	chr11	117395755	117395755	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggccggcccacacttcctgGgagtggaagccatccaggat	8	7	13	13	1	0	0	0	0	0	0	2	3	2	3	5	5	1	0	5	5	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:117395755G>A	ENST00000321322.6	-	5	883	c.882C>T	c.(880-882)tcC>tcT	p.S294S	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	234	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACACTTCCTGGGAGTGGAAGC	0.697													6	8					0	0	0	0	A	117395755	G	A	117395755	2	1	328	1	0	0	0	0	0	0	0	1	4805	1219	43	4		4	DSCAML1	11	117395755	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	153607	117395755	17610761	1554	59768											
SCN4B	6330	broad.mit.edu	37	chr11	118007835	118007835	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagctcacgagacactccttCctggagagggagagagaagg	12	5	15	9	1	1	4	1	0	0	4	3	9	3	4	2	3	1	1	2	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118007835C>T	ENST00000324727.4	-	5	740	c.593_splice	c.e5-1	p.K198_splice	SCN4B_ENST00000529878.1_Splice_Site_p.K64_splice|SCN4B_ENST00000423160.2_5'UTR	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	198						voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		GACACTCCTTCCTGGAGAGGG	0.602													11	20					0	0	0	0	T	118007835	C	T	118007835	5	4	328	1	0	0	0	0	0	0	1	0	14008	869	30	2	96	2	SCN4B	11	118007835	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	612080	118007835	16998681	1555	59769											
PHLDB1	23187	broad.mit.edu	37	chr11	118498114	118498114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacagttccctggtgagctCtattgagaaggacctgcaag	10	9	11	11	0	1	2	0	2	1	1	2	4	2	3	3	2	2	3	3	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118498114C>T	ENST00000361417.2	+	7	986	c.575C>T	c.(574-576)tCt>tTt	p.S192F	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S192F	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	192										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGGTGAGCTCTATTGAGAAG	0.572													33	44					0	0	0	0	T	118498114	C	T	118498114	3	4	328	1	0	0	0	0	1	0	0	0	11923	913	32	2	593	2	PHLDB1	11	118498114	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	490279	118498114	16508402	1556	59770											
DDX6	1656	broad.mit.edu	37	chr11	118638971	118638971	+	Silent	SNP	G	G	A																															aggtctagccgttcaagtaaGggaatgaggtaggcaccgct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118638971G>A	ENST00000264018.4	-	5	764	c.459C>T	c.(457-459)ccC>ccT	p.P153P	DDX6_ENST00000534980.1_Silent_p.P153P|DDX6_ENST00000526070.2_Silent_p.P153P	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	153	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GTTCAAGTAAGGGAATGAGGT	0.408			T	IGH@	B-NHL								10	21					0	0	0	0	A	118638971	G	A	118638971	2	1	328	1	0	0	0	0	0	0	0	1	4409	987	35	4		4	DDX6	11	118638971	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	140857	118638971	16367545	1557	59771	619	2									
DDX6	1656	broad.mit.edu	37	chr11	118638972	118638972	+	Missense_Mutation	SNP	G	G	A																															ggtctagccgttcaagtaagGgaatgaggtaggcaccgctc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118638972G>A	ENST00000264018.4	-	5	763	c.458C>T	c.(457-459)cCc>cTc	p.P153L	DDX6_ENST00000534980.1_Missense_Mutation_p.P153L|DDX6_ENST00000526070.2_Missense_Mutation_p.P153L	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	153	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TTCAAGTAAGGGAATGAGGTA	0.403			T	IGH@	B-NHL								10	21					0	0	0	0	A	118638972	G	A	118638972	3	1	328	1	0	0	0	0	1	0	0	0	4409	1232	43	4	1029	4	DDX6	11	118638972	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	118638972	16367544	1558	59772	619	2									
DDX6	1656	broad.mit.edu	37	chr11	118656871	118656871	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgtgccccctcctccaggGccaccagtgggtttcacagg	5	9	12	15	0	1	0	1	0	0	0	3	0	3	0	6	3	1	1	6	3	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118656871G>A	ENST00000264018.4	-	2	395	c.90C>T	c.(88-90)ggC>ggT	p.G30G	DDX6_ENST00000534980.1_Silent_p.G30G|DDX6_ENST00000526070.2_Silent_p.G30G	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	30					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CTCCTCCAGGGCCACCAGTGG	0.502			T	IGH@	B-NHL								32	56					0	0	0	0	A	118656871	G	A	118656871	2	1	328	1	0	0	0	0	0	0	0	1	4409	1190	42	4		4	DDX6	11	118656871	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	17899	118656871	16349645	1559	59773											
CXCR5	643	broad.mit.edu	37	chr11	118765006	118765006	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcgccaggcccagcggcgCcctcagcggcagaaggcagt	7	4	15	15	4	1	1	1	0	0	1	1	1	1	1	3	4	3	2	3	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118765006C>T	ENST00000292174.4	+	2	929	c.753C>T	c.(751-753)cgC>cgT	p.R251R	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	251					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCCAGCGGCGCCCTCAGCGGC	0.627													18	26					0	0	0	0	T	118765006	C	T	118765006	2	4	328	1	0	0	0	0	0	0	0	1	4126	726	26	4		4	CXCR5	11	118765006	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	108135	118765006	16241510	1560	59774											
UPK2	7379	broad.mit.edu	37	chr11	118827128	118827128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctggctctgctgtccccagGggctgcaggtctcttccatc	3	11	12	15	0	2	0	0	0	2	0	6	0	4	0	3	4	2	5	3	4	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118827128G>A	ENST00000264031.2	+	1	103	c.68G>A	c.(67-69)gGg>gAg	p.G23E	UPK2_ENST00000534788.1_Intron	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	23					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CTGTCCCCAGGGGCTGCAGGT	0.642													24	29					0	0	0	0	A	118827128	G	A	118827128	3	1	328	1	0	0	0	0	1	0	0	0	17105	1232	43	4	70	4	UPK2	11	118827128	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	62122	118827128	16179388	1561	59775											
UPK2	7379	broad.mit.edu	37	chr11	118828850	118828850	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggtatggcccgcacaggGggcatggtggtcatcacggt	6	8	17	10	2	2	0	2	0	0	0	2	0	2	0	1	7	0	3	1	7	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118828850G>A	ENST00000264031.2	+	5	497	c.462G>A	c.(460-462)ggG>ggA	p.G154G	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	154					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CCCGCACAGGGGGCATGGTGG	0.617													31	51					0	0	0	0	A	118828850	G	A	118828850	2	1	328	1	0	0	0	0	0	0	0	1	17105	1219	43	4		4	UPK2	11	118828850	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1722	118828850	16177666	1562	59776											
GRAMD1B	57476	broad.mit.edu	37	chr11	123448163	123448163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaccccgcagaaccaggacGgagacaccatggtggagaag	14	2	13	12	2	0	3	0	0	0	3	0	6	0	4	4	4	2	1	4	4	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:123448163G>A	ENST00000529750.1	+	2	439	c.112G>A	c.(112-114)Gga>Aga	p.G38R	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.G38R|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.G38R	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	38						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GAACCAGGACGGAGACACCAT	0.682											OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	10					0	0	0	0	A	123448163	G	A	123448163	3	1	328	1	0	0	0	0	1	0	0	0	6798	1117	39	1	118	1	GRAMD1B	11	123448163	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4619313	123448163	11558353	1563	59777											
OR6X1	390260	broad.mit.edu	37	chr11	123624347	123624347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttaaggctcccttcacctCcttgtttctaatagtataaa	10	16	4	11	0	3	0	1	0	2	0	5	0	5	0	3	1	0	3	3	1	6	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:123624347C>T	ENST00000327930.2	-	1	906	c.880G>A	c.(880-882)Gag>Aag	p.E294K		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCCTTCACCTCCTTGTTTCTA	0.403													45	54					0	0	0	0	T	123624347	C	T	123624347	3	4	328	1	0	0	0	0	1	0	0	0	11283	864	30	2	60	2	OR6X1	11	123624347	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	176184	123624347	11382169	1564	59778											
OR10G9	219870	broad.mit.edu	37	chr11	123894352	123894352	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggcctcgggctgctttctCctgatagtgctgtcttatgt	3	16	12	10	1	2	1	0	1	2	0	4	1	2	1	2	2	2	3	2	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:123894352C>T	ENST00000375024.1	+	1	633	c.633C>T	c.(631-633)ctC>ctT	p.L211L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L211L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCTGCTTTCTCCTGATAGTGC	0.567													41	66					0	0	0	0	T	123894352	C	T	123894352	2	4	328	1	0	0	0	0	0	0	0	1	10975	842	30	2		2	OR10G9	11	123894352	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	270005	123894352	11112164	1565	59779											
OR8B2	26595	broad.mit.edu	37	chr11	124252318	124252318	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagaatatatttctcctctGaattttaatcagagctttcc	11	18	4	8	0	3	3	1	1	2	2	5	3	4	3	2	0	1	1	2	0	6	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:124252318G>A	ENST00000375013.2	-	1	940	c.922C>T	c.(922-924)Cag>Tag	p.Q308*		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTTCTCCTCTGAATTTTAATC	0.338													19	44					0	0	0	0	A	124252318	G	A	124252318	4	1	328	1	0	0	0	0	0	1	0	0	11298	1299	45	2	22	2	OR8B2	11	124252318	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	357966	124252318	10754198	1566	59780											
OR8B2	26595	broad.mit.edu	37	chr11	124252876	124252876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attacagatggccacatagcGatcatatgccattgaagtca	14	10	8	9	1	2	2	2	1	0	1	2	3	2	2	2	1	3	0	2	1	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:124252876G>A	ENST00000375013.2	-	1	382	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCCACATAGCGATCATATGCC	0.413													10	28					0	0	0	0	A	124252876	G	A	124252876	3	1	328	1	0	0	0	0	1	0	0	0	11298	1058	37	1	580	1	OR8B2	11	124252876	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	558	124252876	10753640	1567	59781											
ROBO3	64221	broad.mit.edu	37	chr11	124742917	124742917	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggaagaaggatgggcagTggctgcagggggatgacctc	10	6	19	6	0	0	2	0	1	0	1	1	6	0	5	1	6	1	3	1	6	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:124742917T>G	ENST00000397801.1	+	9	1660	c.1468T>G	c.(1468-1470)Tgg>Ggg	p.W490G	ROBO3_ENST00000538940.1_Missense_Mutation_p.W468G	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	490	Ig-like C2-type 5.				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)		GGATGGGCAGTGGCTGCAGGG	0.597													25	48					0	0	0	0	G	124742917	T	G	124742917	3	3	328	1	0	0	0	0	1	0	0	0	13600	1696	59	5	1502	5	ROBO3	11	124742917	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	490041	124742917	10263599	1568	59782											
STT3A	3703	broad.mit.edu	37	chr11	125478115	125478115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccacaacaatttgaagttCttttccggagcgtcatctct	10	14	6	11	2	3	1	1	1	2	0	6	2	5	2	2	1	2	1	2	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:125478115C>T	ENST00000392708.4	+	9	1051	c.892C>T	c.(892-894)Ctt>Ttt	p.L298F	STT3A_ENST00000529196.1_Missense_Mutation_p.L298F|STT3A_ENST00000531491.1_Missense_Mutation_p.L206F	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	298					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ATTTGAAGTTCTTTTCCGGAG	0.498													39	71					0	0	0	0	T	125478115	C	T	125478115	3	4	328	1	0	0	0	0	1	0	0	0	15423	913	32	2	922	2	STT3A	11	125478115	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	735198	125478115	9528401	1569	59783											
PATE1	160065	broad.mit.edu	37	chr11	125617640	125617640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgccacctccagttcccagGagaaaagtgctccagaggaa	12	6	11	12	0	0	2	0	0	0	2	3	4	3	3	5	2	2	2	5	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:125617640G>C	ENST00000305738.5	+	4	182	c.170G>C	c.(169-171)gGa>gCa	p.G57A	PATE1_ENST00000437148.2_Missense_Mutation_p.G45A	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	57						extracellular region				large_intestine(1)|lung(5)	6						CAGTTCCCAGGAGAAAAGTGC	0.473													36	52					0	0	0	0	C	125617640	G	C	125617640	3	2	328	1	0	0	0	0	1	0	0	0	11544	1174	41	2	184	2	PATE1	11	125617640	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	139525	125617640	9388876	1570	59784											
CDON	50937	broad.mit.edu	37	chr11	125875950	125875950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttgtatttgtttcaaaagGaactgcagggagagagagag	13	12	13	3	0	1	2	1	0	0	2	1	6	1	4	0	2	2	3	0	2	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:125875950G>A	ENST00000392693.3	-	9	1682	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S	CDON_ENST00000263577.7_Missense_Mutation_p.P519S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	519					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTTTCAAAAGGAACTGCAGGG	0.438													14	33					0	0	0	0	A	125875950	G	A	125875950	3	1	328	1	0	0	0	0	1	0	0	0	3199	1174	41	2	2287	2	CDON	11	125875950	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	258310	125875950	9130566	1571	59785											
NTM	50863	broad.mit.edu	37	chr11	132016341	132016341	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggatgtgtatgacgagggCccttacacctgctcggtgca	7	10	14	10	2	0	1	0	1	0	0	1	3	0	2	2	3	3	3	2	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:132016341C>T	ENST00000374786.1	+	2	812	c.333C>T	c.(331-333)ggC>ggT	p.G111G	NTM_ENST00000539799.1_Silent_p.G111G|NTM_ENST00000374791.3_Silent_p.G111G|NTM_ENST00000374784.1_Silent_p.G111G|NTM_ENST00000425719.2_Silent_p.G111G|NTM_ENST00000427481.2_Silent_p.G102G	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	111	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ATGACGAGGGCCCTTACACCT	0.582													20	43					0	0	0	0	T	132016341	C	T	132016341	2	4	328	1	0	0	0	0	0	0	0	1	10770	726	26	4		4	NTM	11	132016341	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6140391	132016341	2990175	1572	59786											
IGSF9B	22997	broad.mit.edu	37	chr11	133801414	133801414	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggataagtagctcccggccGgcctcctgcctgtactccca	6	8	11	16	2	0	0	0	0	0	0	3	1	3	1	6	3	3	3	6	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:133801414G>A	ENST00000321016.8	-	10	1532	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	IGSF9B_ENST00000533871.2_Silent_p.A434A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	434	Ig-like 5.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTCCCGGCCGGCCTCCTGCC	0.657													34	41					0	0	0	0	A	133801414	G	A	133801414	2	1	328	1	0	0	0	0	0	0	0	1	7659	1103	39	1		1	IGSF9B	11	133801414	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1785073	133801414	1205102	1573	59787											
IQSEC3	440073	broad.mit.edu	37	chr12	247686	247686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccgctggtgcgctcgccctCcctgccgcccaccttcgcag	2	7	11	21	5	0	0	0	0	0	0	3	0	1	0	6	1	2	3	6	1	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:247686C>T	ENST00000538872.1	+	4	1275	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.S83F|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S386F			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	386					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGCTCGCCCTCCCTGCCGCCC	0.701													5	3					0	0	0	0	T	247686	C	T	247686	3	4	328	1	0	0	0	0	1	0	0	0	7872	855	30	2	1171	2	IQSEC3	12	247686	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08		247686	133604209	1574	59788											
KDM5A	5927	broad.mit.edu	37	chr12	438016	438016	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccatctgtacaacagaCtctcttaatcgtgtttcttc	9	15	4	13	1	4	1	1	0	3	1	7	1	4	1	1	0	2	2	1	0	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:438016C>T	ENST00000399788.2	-	14	2315	c.1953G>A	c.(1951-1953)gaG>gaA	p.E651E	KDM5A_ENST00000382815.4_Silent_p.E651E	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	651					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTACAACAGACTCTCTTAATC	0.408			T	NUP98	AML								13	25					0	0	0	0	T	438016	C	T	438016	2	4	328	1	0	0	0	0	0	0	0	1	8185	564	20	4		4	KDM5A	12	438016	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	190330	438016	133413879	1575	59789											
ERC1	23085	broad.mit.edu	37	chr12	1250819	1250819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gattgcgtttggaagagaagGaaaccatgttgaataaaaag	17	9	12	3	1	0	2	0	1	0	1	0	6	0	4	1	2	2	2	1	2	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:1250819G>A	ENST00000397203.2	+	8	2009	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	ERC1_ENST00000360905.4_Missense_Mutation_p.E535K|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.E535K|ERC1_ENST00000546231.2_Missense_Mutation_p.E535K|ERC1_ENST00000355446.5_Missense_Mutation_p.E535K|ERC1_ENST00000543086.3_Missense_Mutation_p.E507K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	535					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGAAGAGAAGGAAACCATGTT	0.373													22	37					0	0	0	0	A	1250819	G	A	1250819	3	1	328	1	0	0	0	0	1	0	0	0	5248	1175	41	2	1629	2	ERC1	12	1250819	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	812803	1250819	132601076	1576	59790											
CACNA2D4	93589	broad.mit.edu	37	chr12	2027517	2027517	+	Silent	SNP	G	G	A																															tgcacaaaggcccaggccacGggcattggctggaggggaat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:2027517G>A	ENST00000382722.5	-	1	485	c.123C>T	c.(121-123)ccC>ccT	p.P41P	CACNA2D4_ENST00000585732.1_Silent_p.P41P|CACNA2D4_ENST00000587995.1_Silent_p.P41P|RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000586184.1_Silent_p.P41P	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	41						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCCAGGCCACGGGCATTGGCT	0.652													14	4					0	0	0	0	A	2027517	G	A	2027517	2	1	328	1	0	0	0	0	0	0	0	1	2576	1103	39	1		1	CACNA2D4	12	2027517	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	776698	2027517	131824378	1577	59791	620	2									
CACNA2D4	93589	broad.mit.edu	37	chr12	2027518	2027518	+	Missense_Mutation	SNP	G	G	A																															gcacaaaggcccaggccacgGgcattggctggaggggaatc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:2027518G>A	ENST00000382722.5	-	1	484	c.122C>T	c.(121-123)cCc>cTc	p.P41L	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.P41L|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.P41L|RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.P41L	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	41						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCAGGCCACGGGCATTGGCTG	0.652													15	4					0	0	0	0	A	2027518	G	A	2027518	3	1	328	1	0	0	0	0	1	0	0	0	2576	1232	43	4	3443	4	CACNA2D4	12	2027518	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	2027518	131824377	1578	59792	620	2									
TEAD4	7004	broad.mit.edu	37	chr12	3149530	3149530	+	Splice_Site	SNP	G	G	A																															ttgtctttttctctcccacaGgtggtcaccaacagagacac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:3149530G>A	ENST00000359864.2	+	13	1381		c.e13-1		TEAD4_ENST00000358409.2_Splice_Site|TEAD4_ENST00000397122.2_Splice_Site	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4						hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTCTCCCACAGGTGGTCACCA	0.582													18	30					0	0	0	0	A	3149530	G	A	3149530	5	1	328	1	0	0	0	0	0	0	1	0	15835	1014	35	4	1233	4	TEAD4	12	3149530	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1122012	3149530	130702365	1579	59793	621	2									
TEAD4	7004	broad.mit.edu	37	chr12	3149531	3149531	+	Splice_Site	SNP	G	G	A																															tgtctttttctctcccacagGtggtcaccaacagagacaca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:3149531G>A	ENST00000359864.2	+	13	1382	c.1191_splice	c.e13-1	p.V398_splice	TEAD4_ENST00000358409.2_Splice_Site_p.V355_splice|TEAD4_ENST00000397122.2_Splice_Site_p.V269_splice	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	398					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCTCCCACAGGTGGTCACCAA	0.577													18	30					0	0	0	0	A	3149531	G	A	3149531	5	1	328	1	0	0	0	0	0	0	1	0	15835	1275	44	4	1234	4	TEAD4	12	3149531	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	3149531	130702364	1580	59794	621	2									
EFCAB4B	84766	broad.mit.edu	37	chr12	3757680	3757680	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcttctgggaggtgctctCagcacaggccagtgcccacc	7	7	13	14	0	2	0	1	0	2	0	3	1	2	1	3	4	3	3	3	4	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:3757680C>T	ENST00000252322.1	-	11	1614	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L	EFCAB4B_ENST00000444507.1_Intron|EFCAB4B_ENST00000440314.2_Intron	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	382					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GAGGTGCTCTCAGCACAGGCC	0.597													16	41					0	0	0	0	T	3757680	C	T	3757680	2	4	328	1	0	0	0	0	0	0	0	1	4973	813	29	2		2	EFCAB4B	12	3757680	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	608149	3757680	130094215	1581	59795											
AKAP3	10566	broad.mit.edu	37	chr12	4736590	4736590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatcttcagggtactcaaagGaaatgtctgatgcaggctta	12	12	10	7	0	4	1	2	1	2	0	4	2	4	2	0	3	2	3	0	3	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:4736590G>A	ENST00000545990.2	-	5	2002	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	AKAP3_ENST00000228850.1_Missense_Mutation_p.S493F	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	493					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTACTCAAAGGAAATGTCTGA	0.453													10	20					0	0	0	0	A	4736590	G	A	4736590	3	1	328	1	0	0	0	0	1	0	0	0	452	1174	41	2	1091	2	AKAP3	12	4736590	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	978910	4736590	129115305	1582	59796											
KCNA5	3741	broad.mit.edu	37	chr12	5155095	5155095	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaggccaagagcaacgtGgacttgcggaggtcccttta	10	8	13	10	2	1	1	1	0	0	1	2	3	2	3	2	4	3	1	2	4	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:5155095G>A	ENST00000252321.3	+	1	2011	c.1782G>A	c.(1780-1782)gtG>gtA	p.V594V		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	594						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			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						AGAGCAACGTGGACTTGCGGA	0.577													17	14					0	0	0	0	A	5155095	G	A	5155095	2	1	328	1	0	0	0	0	0	0	0	1	8059	1335	47	4		4	KCNA5	12	5155095	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	418505	5155095	128696800	1583	59797											
ANO2	57101	broad.mit.edu	37	chr12	5842044	5842044	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaacctgggcacgttcCtggggatagcgccggtgttg	8	8	14	11	3	0	0	0	0	0	0	1	1	1	1	4	4	3	3	4	4	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:5842044C>T	ENST00000327087.8	-	14	1494		c.e14-1		ANO2_ENST00000538154.1_Intron|ANO2_ENST00000546188.1_Intron|ANO2_ENST00000356134.5_Splice_Site			Q9NQ90	ANO2_HUMAN	anoctamin 2							chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGGCACGTTCCTGGGGATAGC	0.488													16	24					0	0	0	0	T	5842044	C	T	5842044	5	4	328	1	0	0	0	0	0	0	1	0	696	695	24	4	1626	4	ANO2	12	5842044	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	686949	5842044	128009851	1584	59798											
VWF	7450	broad.mit.edu	37	chr12	6120860	6120860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagggcacgaaggcctcagcCcccggtcacagttgacccga	9	5	12	15	3	2	1	2	1	0	0	2	3	2	1	4	3	1	2	4	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6120860C>T	ENST00000261405.5	-	34	6019	c.5765G>A	c.(5764-5766)gGg>gAg	p.G1922E		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1922					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGCCTCAGCCCCCGGTCACA	0.622													16	17					0	0	0	0	T	6120860	C	T	6120860	3	4	328	1	0	0	0	0	1	0	0	0	17342	623	22	4	2752	4	VWF	12	6120860	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	278816	6120860	127731035	1585	59799											
VWF	7450	broad.mit.edu	37	chr12	6167113	6167113	+	Missense_Mutation	SNP	G	G	A																															tcccgaagtcctccacccggGgctccgccagcccagagggg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6167113G>A	ENST00000261405.5	-	14	1885	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	544	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCCACCCGGGGCTCCGCCAG	0.657													23	67					0	0	0	0	A	6167113	G	A	6167113	3	1	328	1	0	0	0	0	1	0	0	0	17342	1232	43	4	6966	4	VWF	12	6167113	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	46253	6167113	127684782	1586	59800	622	2									
VWF	7450	broad.mit.edu	37	chr12	6167114	6167114	+	Missense_Mutation	SNP	G	G	A																															cccgaagtcctccacccgggGctccgccagcccagaggggg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6167114G>A	ENST00000261405.5	-	14	1884	c.1630C>T	c.(1630-1632)Ccc>Tcc	p.P544S		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	544	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCACCCGGGGCTCCGCCAGC	0.662													24	67					0	0	0	0	A	6167114	G	A	6167114	3	1	328	1	0	0	0	0	1	0	0	0	17342	1203	42	4	6967	4	VWF	12	6167114	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	6167114	127684781	1587	59801	622	2									
LPAR5	57121	broad.mit.edu	37	chr12	6729643	6729643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgctccgcagcagccCgtagaccgccagcgtgctgt	6	7	12	16	4	0	1	0	0	0	1	1	1	1	1	4	0	6	6	4	0	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6729643C>T	ENST00000329858.4	-	2	1528	c.772G>A	c.(772-774)Ggg>Agg	p.G258R	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Missense_Mutation_p.G258R	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	258						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CGCAGCAGCCCGTAGACCGCC	0.692													3	4					0	0	0	0	T	6729643	C	T	6729643	3	4	328	1	0	0	0	0	1	0	0	0	8972	652	23	1	350	1	LPAR5	12	6729643	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	562529	6729643	127122252	1588	59802											
ACRBP	84519	broad.mit.edu	37	chr12	6752731	6752731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccgaaaccaaggatctcctCctccatgtacttccaggcct	9	9	6	17	1	1	0	0	0	1	0	5	2	4	1	7	2	2	1	7	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6752731C>T	ENST00000229243.2	-	6	1144	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Missense_Mutation_p.E318K	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	351						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGGATCTCCTCCTCCATGTAC	0.557													37	58					0	0	0	0	T	6752731	C	T	6752731	3	4	328	1	0	0	0	0	1	0	0	0	170	864	30	2	600	2	ACRBP	12	6752731	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	23088	6752731	127099164	1589	59803											
ZNF384	171017	broad.mit.edu	37	chr12	6776966	6776966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgctccgccgtcttatacgGggtcaggtcaaaggaacact	10	9	11	11	3	3	0	2	0	1	0	4	1	4	1	2	4	3	1	2	4	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6776966G>A	ENST00000396795.1	-	9	1962	c.1465C>T	c.(1465-1467)Ccg>Tcg	p.P489S	ZNF384_ENST00000355772.4_Missense_Mutation_p.P434S|ZNF384_ENST00000396799.2_Missense_Mutation_p.P489S|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000361959.3_Missense_Mutation_p.P550S|ZNF384_ENST00000396801.3_Missense_Mutation_p.P550S|ZNF384_ENST00000319770.3_Missense_Mutation_p.P473S			Q8TF68	ZN384_HUMAN	zinc finger protein 384	550	Ala-rich.|Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GTCTTATACGGGGTCAGGTCA	0.622			T	"EWSR1, TAF15 "	ALL								83	125					0	0	0	0	A	6776966	G	A	6776966	3	1	328	1	0	0	0	0	1	0	0	0	17970	1232	43	4	89	4	ZNF384	12	6776966	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	24235	6776966	127074929	1590	59804											
PTPN6	5777	broad.mit.edu	37	chr12	7064398	7064398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaagaagacggggattgagGaggcctcaggcgcctttgtc	9	8	15	9	2	2	3	2	1	0	2	3	5	2	5	2	5	0	0	2	5	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:7064398G>A	ENST00000456013.1	+	5	843	c.601G>A	c.(601-603)Gag>Aag	p.E201K	PTPN6_ENST00000318974.9_Missense_Mutation_p.E201K|PTPN6_ENST00000399448.1_Missense_Mutation_p.E203K|PTPN6_ENST00000447931.2_Missense_Mutation_p.E162K	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	201	SH2 2.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGGGATTGAGGAGGCCTCAGG	0.622													55	77					0	0	0	0	A	7064398	G	A	7064398	3	1	328	1	0	0	0	0	1	0	0	0	12874	1175	41	2	637	2	PTPN6	12	7064398	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	287432	7064398	126787497	1591	59805											
CLSTN3	9746	broad.mit.edu	37	chr12	7286260	7286260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggggctgatccgggcCaaggagcctgtggactgcga	8	5	19	9	2	0	2	0	1	0	1	1	6	1	4	3	6	2	1	3	6	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:7286260C>T	ENST00000537408.1	+	2	853	c.315C>T	c.(313-315)gcC>gcT	p.A105A	CLSTN3_ENST00000266546.6_Silent_p.A93A			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	93	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGATCCGGGCCAAGGAGCCTG	0.632													25	44					0	0	0	0	T	7286260	C	T	7286260	2	4	328	1	0	0	0	0	0	0	0	1	3593	581	21	4		4	CLSTN3	12	7286260	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	221862	7286260	126565635	1592	59806											
CD163	9332	broad.mit.edu	37	chr12	7633840	7633840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttggtggactaagttctctCctcttgaggaaactgaaaac	11	13	9	8	0	2	2	0	2	2	0	4	4	3	4	1	3	2	1	1	3	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:7633840C>T	ENST00000359156.4	-	15	3462	c.3260G>A	c.(3259-3261)gGa>gAa	p.G1087E	CD163_ENST00000396620.3_Missense_Mutation_p.G1120E|CD163_ENST00000541972.1_Missense_Mutation_p.G1075E|CD163_ENST00000432237.2_Missense_Mutation_p.G1087E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1087					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TAAGTTCTCTCCTCTTGAGGA	0.423													36	52					0	0	0	0	T	7633840	C	T	7633840	3	4	328	1	0	0	0	0	1	0	0	0	2996	855	30	2	218	2	CD163	12	7633840	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	347580	7633840	126218055	1593	59807											
CD163	9332	broad.mit.edu	37	chr12	7654044	7654044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accatccactagcctcagctCcttgtctgttcctcctgcaa	7	12	5	17	0	2	0	1	0	1	0	6	0	6	0	6	0	3	3	6	0	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:7654044C>T	ENST00000359156.4	-	3	350	c.148G>A	c.(148-150)Gag>Aag	p.E50K	CD163_ENST00000396620.3_Missense_Mutation_p.E50K|CD163_ENST00000541972.1_Missense_Mutation_p.E38K|CD163_ENST00000432237.2_Missense_Mutation_p.E50K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	50					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGCCTCAGCTCCTTGTCTGTT	0.438													39	54					0	0	0	0	T	7654044	C	T	7654044	3	4	328	1	0	0	0	0	1	0	0	0	2996	864	30	2	3378	2	CD163	12	7654044	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	20204	7654044	126197851	1594	59808											
C3AR1	719	broad.mit.edu	37	chr12	8212283	8212283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacatctattatggttgtCtgtagtgaagatttcccggt	8	15	10	8	1	2	2	0	1	2	1	3	2	3	2	2	2	0	2	2	2	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:8212283C>T	ENST00000307637.4	-	2	702	c.499G>A	c.(499-501)Gac>Aac	p.D167N		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	167					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTATGGTTGTCTGTAGTGAAG	0.433													41	75					0	0	0	0	T	8212283	C	T	8212283	3	4	328	1	0	0	0	0	1	0	0	0	2225	913	32	2	953	2	C3AR1	12	8212283	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	558239	8212283	125639612	1595	59809											
FAM90A1	55138	broad.mit.edu	37	chr12	8377331	8377331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatcttcttcatcgggcgggGgagcccttggcccaactggg	5	9	15	12	2	3	0	1	0	2	0	4	2	3	1	2	5	2	0	2	5	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:8377331G>A	ENST00000538603.1	-	4	656	c.98C>T	c.(97-99)cCc>cTc	p.P33L	FAM90A1_ENST00000307435.6_Missense_Mutation_p.P33L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	33							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ATCGGGCGGGGGAGCCCTTGG	0.642													3	4					0	0	0	0	A	8377331	G	A	8377331	3	1	328	1	0	0	0	0	1	0	0	0	5695	1232	43	4	1312	4	FAM90A1	12	8377331	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	165048	8377331	125474564	1596	59810											
CLEC6A	93978	broad.mit.edu	37	chr12	8628756	8628756	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctgaatgagtcattttcTtattttctggggctttcaga	8	17	9	7	0	4	3	2	2	2	1	4	3	4	3	0	2	1	2	0	2	2	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:8628756T>C	ENST00000382073.3	+	5	591	c.405T>C	c.(403-405)tcT>tcC	p.S135S		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	135	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					agtcattttcttattttctgg	0.393													35	46					0	0	0	0	C	8628756	T	C	8628756	2	2	328	1	0	0	0	0	0	0	0	1	3550	1596	56	5		5	CLEC6A	12	8628756	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	251425	8628756	125223139	1597	59811											
A2M	2	broad.mit.edu	37	chr12	9246163	9246163	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgcatggcctcttcccAttacatctgactctatggtg	6	13	10	12	1	3	1	0	1	3	0	4	1	4	1	2	3	2	1	2	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:9246163A>T	ENST00000318602.7	-	18	2445	c.2138T>A	c.(2137-2139)aTg>aAg	p.M713K		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	713	Bait region.				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GCCTCTTCCCATTACATCTGA	0.433													8	10					0	0	0	0	T	9246163	A	T	9246163	3	4	328	1	0	0	0	0	1	0	0	0	4	217	8	5	2362	5	A2M	12	9246163	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	617407	9246163	124605732	1598	59812											
TAS2R46	259292	broad.mit.edu	37	chr12	11214525	11214525	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaacaacactcttaactctCctctttaagtgaagaaaaat	17	11	4	9	0	3	3	0	1	3	2	4	3	3	3	1	0	3	0	1	0	7	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:11214525C>A	ENST00000533467.1	-	1	368	c.369G>T	c.(367-369)agG>agT	p.R123S	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	123					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCTTAACTCTCCTCTTTAAGT	0.353													36	56					6.84511e-11	6.91549e-11	1	0	A	11214525	C	A	11214525	3	1	328	1	0	0	0	0	1	0	0	0	15673	854	30	2	564	2	TAS2R46	12	11214525	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1968362	11214525	122637370	1599	59813											
PRB3	5544	broad.mit.edu	37	chr12	11420854	11420854	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacgaggtgggggaccttggGactggtttcctccttgtggg	4	11	18	8	1	0	0	0	0	0	0	2	4	2	2	3	6	0	1	3	6	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:11420854G>A	ENST00000381842.3	-	0	366				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACCTTGGGACTGGTTTCC	0.627													91	239					0	0	0	0	A	11420854	G	A	11420854	1	1	328	0	1	0	0	0	0	0	0	0	12524	1174	41	2		2	PRB3	12	11420854	RNA	SNP	G	TCGA-CV-7568-01A-11D-2229-08	206329	11420854	122431041	1600	59814											
PRB2	653247	broad.mit.edu	37	chr12	11546120	11546120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctttcctggaggagatcGagaacttcgggacttgctgc	7	11	14	9	2	0	2	0	0	0	2	3	6	1	4	1	4	3	2	1	4	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:11546120G>A	ENST00000389362.4	-	3	927	c.892C>T	c.(892-894)Cga>Tga	p.R298*	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGGAGATCGAGAACTTCGG	0.612													135	257					0	0	0	0	A	11546120	G	A	11546120	4	1	328	1	0	0	0	0	0	1	0	0	12523	1066	37	1	362	1	PRB2	12	11546120	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	125266	11546120	122305775	1601	59815											
ETV6	2120	broad.mit.edu	37	chr12	12022503	12022503	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcagcggcccctccggtcCcccctggacaacatgatccg	7	5	11	18	3	0	1	0	1	0	0	3	3	3	2	7	3	3	1	7	3	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:12022503C>T	ENST00000396373.4	+	5	883	c.609C>T	c.(607-609)tcC>tcT	p.S203S		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	203						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCTCCGGTCCCCCCTGGACA	0.632			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								86	159					0	0	0	0	T	12022503	C	T	12022503	2	4	328	1	0	0	0	0	0	0	0	1	5321	610	22	4		4	ETV6	12	12022503	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	476383	12022503	121829392	1602	59816											
BCL2L14	79370	broad.mit.edu	37	chr12	12232649	12232649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggtgtctttctaacgTggagcagtgcttggagcatg	7	12	14	8	1	2	0	0	0	2	0	3	2	3	2	1	3	4	3	1	3	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:12232649T>C	ENST00000266434.4	+	2	605	c.410T>C	c.(409-411)gTg>gCg	p.V137A	BCL2L14_ENST00000586576.1_Missense_Mutation_p.V170A|BCL2L14_ENST00000308721.5_Missense_Mutation_p.V137A|BCL2L14_ENST00000589718.1_Missense_Mutation_p.V137A|BCL2L14_ENST00000396369.1_Missense_Mutation_p.V137A|BCL2L14_ENST00000396367.1_Missense_Mutation_p.V137A	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	137					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		CTTTCTAACGTGGAGCAGTGC	0.522													45	85					0	0	0	0	C	12232649	T	C	12232649	3	2	328	1	0	0	0	0	1	0	0	0	1376	1696	59	5	412	5	BCL2L14	12	12232649	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	210146	12232649	121619246	1603	59817											
DUSP16	80824	broad.mit.edu	37	chr12	12630841	12630841	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagcagcttgagtttgctCtttggccctgatgctccagt	5	14	11	11	0	1	2	0	2	1	0	2	2	2	2	2	1	5	6	2	1	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:12630841C>T	ENST00000228862.2	-	7	1555	c.924G>A	c.(922-924)aaG>aaA	p.K308K	DUSP16_ENST00000545864.1_5'UTR|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	308					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TGAGTTTGCTCTTTGGCCCTG	0.493													38	85					0	0	0	0	T	12630841	C	T	12630841	2	4	328	1	0	0	0	0	0	0	0	1	4852	912	32	2		2	DUSP16	12	12630841	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	398192	12630841	121221054	1604	59818											
GPRC5A	9052	broad.mit.edu	37	chr12	13061788	13061788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccttcaccttctgtggttCcttcacgggctggaagagac	6	12	10	13	1	3	1	2	0	1	1	5	3	5	2	3	3	0	2	3	3	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:13061788C>T	ENST00000014914.5	+	2	1495	c.605C>T	c.(604-606)tCc>tTc	p.S202F	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	202						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TTCTGTGGTTCCTTCACGGGC	0.567													66	107					0	0	0	0	T	13061788	C	T	13061788	3	4	328	1	0	0	0	0	1	0	0	0	6774	855	30	2	607	2	GPRC5A	12	13061788	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	430947	13061788	120790107	1605	59819											
PDE3A	5139	broad.mit.edu	37	chr12	20801789	20801789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttggccactgacctgaaGaaacactttgacttcgtagc	11	12	8	10	1	0	4	0	3	0	1	1	4	0	4	2	1	2	1	2	1	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:20801789G>A	ENST00000359062.3	+	13	2773	c.2733G>A	c.(2731-2733)aaG>aaA	p.K911K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	911	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGACCTGAAGAAACACTTTG	0.363													30	69					0	0	0	0	A	20801789	G	A	20801789	2	1	328	1	0	0	0	0	0	0	0	1	11708	933	33	2		2	PDE3A	12	20801789	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7740001	20801789	113050106	1606	59820											
SLCO1C1	53919	broad.mit.edu	37	chr12	20876184	20876184	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctccagggccaactttgtGatcggtatgctcatctgcct	6	13	9	13	1	2	1	1	1	1	0	5	1	4	1	4	2	3	2	4	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:20876184G>A	ENST00000381552.1	+	9	1550	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	SLCO1C1_ENST00000540354.1_Silent_p.V345V|SLCO1C1_ENST00000545102.1_Silent_p.V276V|SLCO1C1_ENST00000545604.1_Silent_p.V394V|SLCO1C1_ENST00000266509.2_Silent_p.V394V			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	394					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCAACTTTGTGATCGGTATGC	0.458													27	40					0	0	0	0	A	20876184	G	A	20876184	2	1	328	1	0	0	0	0	0	0	0	1	14813	1277	45	2		2	SLCO1C1	12	20876184	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	74395	20876184	112975711	1607	59821											
SLCO1B3	28234	broad.mit.edu	37	chr12	21011438	21011438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacacagaccgaagttaattGgaattggttgtctccttatg	11	14	9	7	1	1	1	0	0	1	1	2	3	1	2	2	2	1	2	2	2	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:21011438G>A	ENST00000381545.3	+	5	511	c.292G>A	c.(292-294)Gga>Aga	p.G98R	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G98R|LST3_ENST00000540229.1_Missense_Mutation_p.G98R|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G98R|LST3_ENST00000381541.3_Missense_Mutation_p.G98R|SLCO1B3_ENST00000545880.1_3'UTR|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G98R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	98					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GAAGTTAATTGGAATTGGTTG	0.318													30	38					0	0	0	0	A	21011438	G	A	21011438	3	1	328	1	0	0	0	0	1	0	0	0	14812	1349	47	4	302	4	SLCO1B3	12	21011438	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	135254	21011438	112840457	1608	59822											
SLCO1B1	10599	broad.mit.edu	37	chr12	21355470	21355470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtggaatgtttttaggagGatatatcattaaaaaattca	17	14	8	2	0	2	0	2	0	0	0	2	3	2	3	0	3	0	1	0	3	8	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:21355470G>A	ENST00000256958.2	+	10	1277	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	394					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.G394E(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTTTAGGAGGATATATCATT	0.289													15	26					0	0	0	0	A	21355470	G	A	21355470	3	1	328	1	0	0	0	0	1	0	0	0	14811	1174	41	2	1215	2	SLCO1B1	12	21355470	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	344032	21355470	112496425	1609	59823											
SLCO1B1	10599	broad.mit.edu	37	chr12	21370150	21370150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagatgatgcttgtacaaGgaaattttacttttttgttg	12	17	9	3	0	0	2	0	1	0	1	0	4	0	3	0	1	3	3	0	1	5	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:21370150G>A	ENST00000256958.2	+	12	1691	c.1595G>A	c.(1594-1596)aGg>aAg	p.R532K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	532					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GCTTGTACAAGGAAATTTTAC	0.378													23	39					0	0	0	0	A	21370150	G	A	21370150	3	1	328	1	0	0	0	0	1	0	0	0	14811	1000	35	4	1637	4	SLCO1B1	12	21370150	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	14680	21370150	112481745	1610	59824											
BCAT1	586	broad.mit.edu	37	chr12	24995057	24995057	+	Missense_Mutation	SNP	C	C	T																															aaagaaaaagattcatagttCccacttcagtgatctgatgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:24995057C>T	ENST00000261192.7	-	7	1302	c.776G>A	c.(775-777)gGa>gAa	p.G259E	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Missense_Mutation_p.G198E|BCAT1_ENST00000539282.1_Missense_Mutation_p.G271E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G258E|BCAT1_ENST00000539780.1_Missense_Mutation_p.G222E	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	259					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	ATTCATAGTTCCCACTTCAGT	0.423													4	25					0	0	0	0	T	24995057	C	T	24995057	3	4	328	1	0	0	0	0	1	0	0	0	1358	855	30	2	404	2	BCAT1	12	24995057	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3624907	24995057	108856838	1611	59825	623	3									
BCAT1	586	broad.mit.edu	37	chr12	24995058	24995058	+	Missense_Mutation	SNP	C	C	T																															aagaaaaagattcatagttcCcacttcagtgatctgatggt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:24995058C>T	ENST00000261192.7	-	7	1301	c.775G>A	c.(775-777)Gga>Aga	p.G259R	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Missense_Mutation_p.G198R|BCAT1_ENST00000539282.1_Missense_Mutation_p.G271R|BCAT1_ENST00000538118.1_Missense_Mutation_p.G258R|BCAT1_ENST00000539780.1_Missense_Mutation_p.G222R	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	259					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TTCATAGTTCCCACTTCAGTG	0.423													5	24					0	0	0	0	T	24995058	C	T	24995058	3	4	328	1	0	0	0	0	1	0	0	0	1358	632	22	4	405	4	BCAT1	12	24995058	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	24995058	108856837	1612	59826	623	3									
BCAT1	586	broad.mit.edu	37	chr12	24995059	24995059	+	Silent	SNP	C	C	T																															agaaaaagattcatagttccCacttcagtgatctgatggtc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:24995059C>T	ENST00000261192.7	-	7	1300	c.774G>A	c.(772-774)gtG>gtA	p.V258V	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Silent_p.V197V|BCAT1_ENST00000539282.1_Silent_p.V270V|BCAT1_ENST00000538118.1_Silent_p.V257V|BCAT1_ENST00000539780.1_Silent_p.V221V	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	258					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TCATAGTTCCCACTTCAGTGA	0.428													5	24					0	0	0	0	T	24995059	C	T	24995059	2	4	328	1	0	0	0	0	0	0	0	1	1358	581	21	4		4	BCAT1	12	24995059	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	24995059	108856836	1613	59827	623	3									
ITPR2	3709	broad.mit.edu	37	chr12	26589225	26589225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaacacagccaggttgaagGaaatgctcccccagagagag	14	5	12	10	0	0	4	0	2	0	2	1	6	1	5	3	2	3	2	3	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:26589225G>A	ENST00000381340.3	-	48	7114	c.6698C>T	c.(6697-6699)tCc>tTc	p.S2233F		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2233					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGGTTGAAGGAAATGCTCCC	0.423													6	28					0	0	0	0	A	26589225	G	A	26589225	3	1	328	1	0	0	0	0	1	0	0	0	7974	1174	41	2	1447	2	ITPR2	12	26589225	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1594166	26589225	107262670	1614	59828											
TSPAN11	441631	broad.mit.edu	37	chr12	31116808	31116808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatctggaccctggtggaGaagagtggctacctcagcgt	8	8	15	10	1	2	2	1	0	1	2	2	4	2	3	2	5	2	2	2	5	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:31116808G>A	ENST00000261177.9	+	3	191	c.132G>A	c.(130-132)gaG>gaA	p.E44E	TSPAN11_ENST00000535215.1_5'UTR|TSPAN11_ENST00000546076.1_Silent_p.E44E|TSPAN11_ENST00000544427.1_Silent_p.E34E	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	44						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCCTGGTGGAGAAGAGTGGCT	0.667													45	74					0	0	0	0	A	31116808	G	A	31116808	2	1	328	1	0	0	0	0	0	0	0	1	16730	933	33	2		2	TSPAN11	12	31116808	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4527583	31116808	102735087	1615	59829											
DENND5B	160518	broad.mit.edu	37	chr12	31600532	31600532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaaggtgggtgcccttaCattatacagccttatcttat	9	13	8	11	1	1	0	0	0	1	0	1	0	1	0	3	2	4	1	3	2	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:31600532C>T	ENST00000389082.5	-	6	2065	c.1801G>A	c.(1801-1803)Gta>Ata	p.V601I	DENND5B_ENST00000354285.4_Missense_Mutation_p.V623I|DENND5B_ENST00000306833.6_Missense_Mutation_p.V636I|DENND5B_ENST00000536562.1_Missense_Mutation_p.V636I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	601						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTGCCCTTACATTATACAGC	0.368													11	21					0	0	0	0	T	31600532	C	T	31600532	3	4	328	1	0	0	0	0	1	0	0	0	4474	478	17	4	2087	4	DENND5B	12	31600532	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	483724	31600532	102251363	1616	59830											
KIF21A	55605	broad.mit.edu	37	chr12	39763620	39763620	+	Missense_Mutation	SNP	G	G	A																															ttcttcaatactcttaaaaaGgtgtttaacagctcgagaaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:39763620G>A	ENST00000395670.3	-	3	780	c.361C>T	c.(361-363)Ctt>Ttt	p.L121F	KIF21A_ENST00000361961.3_Missense_Mutation_p.L121F|KIF21A_ENST00000544797.2_Missense_Mutation_p.L121F|KIF21A_ENST00000541463.2_Missense_Mutation_p.L121F|KIF21A_ENST00000361418.5_Missense_Mutation_p.L121F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	121	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCTTAAAAAGGTGTTTAACA	0.348													19	31					0	0	0	0	A	39763620	G	A	39763620	3	1	328	1	0	0	0	0	1	0	0	0	8339	1000	35	4	4807	4	KIF21A	12	39763620	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	8163088	39763620	94088275	1617	59831	624	2									
KIF21A	55605	broad.mit.edu	37	chr12	39763621	39763621	+	Silent	SNP	G	G	A																															tcttcaatactcttaaaaagGtgtttaacagctcgagaaat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:39763621G>A	ENST00000395670.3	-	3	779	c.360C>T	c.(358-360)caC>caT	p.H120H	KIF21A_ENST00000361961.3_Silent_p.H120H|KIF21A_ENST00000544797.2_Silent_p.H120H|KIF21A_ENST00000541463.2_Silent_p.H120H|KIF21A_ENST00000361418.5_Silent_p.H120H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	120	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCTTAAAAAGGTGTTTAACAG	0.348													19	30					0	0	0	0	A	39763621	G	A	39763621	2	1	328	1	0	0	0	0	0	0	0	1	8339	1252	44	4		4	KIF21A	12	39763621	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	39763621	94088274	1618	59832	624	2									
GXYLT1	283464	broad.mit.edu	37	chr12	42481617	42481617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttggtgatctggcataacGatctcttacactttttgcta	8	17	7	9	1	2	1	0	1	2	0	3	2	2	1	0	2	3	2	0	2	3	6	rs75740340	by1000genomes	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:42481617G>A	ENST00000398675.3	-	8	1526	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	GXYLT1_ENST00000280876.6_Missense_Mutation_p.R401C	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	432					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CTGGCATAACGATCTCTTACA	0.328													10	17					0	0	0	0	A	42481617	G	A	42481617	3	1	328	1	0	0	0	0	1	0	0	0	6953	1058	37	1	32	1	GXYLT1	12	42481617	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2717996	42481617	91370278	1619	59833											
TWF1	5756	broad.mit.edu	37	chr12	44191151	44191151	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggaatgtttatacagaaaGaaatggtaacgagctgaatc	16	10	11	4	1	0	3	0	1	0	2	1	5	0	4	0	2	3	3	0	2	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:44191151G>A	ENST00000395510.2	-	7	843	c.714C>T	c.(712-714)ttC>ttT	p.F238F	TWF1_ENST00000552521.1_Silent_p.F140F|TWF1_ENST00000548315.1_Silent_p.F245F|TWF1_ENST00000325127.4_Silent_p.F272F	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	238	ADF-H 2.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TATACAGAAAGAAATGGTAAC	0.313													23	54					0	0	0	0	A	44191151	G	A	44191151	2	1	328	1	0	0	0	0	0	0	0	1	16877	933	33	2		2	TWF1	12	44191151	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1709534	44191151	89660744	1620	59834											
ARID2	196528	broad.mit.edu	37	chr12	46245164	46245164	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagctccacagattcctccCcctaataatgcaagagctcc	11	8	5	17	0	0	2	0	0	0	2	4	2	4	2	6	0	3	3	6	0	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:46245164C>T	ENST00000334344.6	+	15	3430	c.3258C>T	c.(3256-3258)ccC>ccT	p.P1086P	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.P696P|ARID2_ENST00000422737.1_Silent_p.P937P	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1086	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGATTCCTCCCCCTAATAATG	0.537			"N, S, F"		hepatocellular carcinoma								36	68					0	0	0	0	T	46245164	C	T	46245164	2	4	328	1	0	0	0	0	0	0	0	1	917	610	22	4		4	ARID2	12	46245164	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2054013	46245164	87606731	1621	59835											
RPAP3	79657	broad.mit.edu	37	chr12	48090187	48090187	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgaagtatttattgccCtgaaagaaaattatataaaa	17	15	6	3	0	0	3	0	2	0	1	0	3	0	3	1	0	1	2	1	0	10	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48090187C>T	ENST00000005386.3	-	5	533		c.e5-1		RPAP3_ENST00000380650.4_Splice_Site|RPAP3_ENST00000432584.3_Splice_Site	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3								binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					ATTTATTGCCCTGAAAGAAAA	0.368													8	24					0	0	0	0	T	48090187	C	T	48090187	5	4	328	1	0	0	0	0	0	0	1	0	13628	695	24	4	1632	4	RPAP3	12	48090187	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1845023	48090187	85761708	1622	59836											
COL2A1	1280	broad.mit.edu	37	chr12	48372458	48372458	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggccgggttcaccagctcgGccaggggggccgctgtctcc	4	6	16	15	3	2	0	1	0	1	0	4	0	2	0	5	6	1	3	5	6	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48372458G>A	ENST00000380518.3	-	42	2981	c.2817C>T	c.(2815-2817)ggC>ggT	p.G939G	COL2A1_ENST00000337299.6_Silent_p.G870G|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	939	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CACCAGCTCGGCCAGGGGGGC	0.637													18	31					0	0	0	0	A	48372458	G	A	48372458	2	1	328	1	0	0	0	0	0	0	0	1	3717	1190	42	4		4	COL2A1	12	48372458	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	282271	48372458	85479437	1623	59837											
SENP1	29843	broad.mit.edu	37	chr12	48458913	48458913	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttttttttgtgtttcttGgacaacagtaacaggaatct	10	17	7	7	0	2	0	0	0	2	0	2	2	2	2	1	2	2	2	1	2	3	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48458913G>A	ENST00000004980.5	-	12	1688	c.1210C>T	c.(1210-1212)Caa>Taa	p.Q404*	SENP1_ENST00000549518.1_Nonsense_Mutation_p.Q404*|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000551330.1_Nonsense_Mutation_p.Q404*|SENP1_ENST00000448372.1_Nonsense_Mutation_p.Q404*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.Q404*			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	404					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGTGTTTCTTGGACAACAGTA	0.348													16	24					0	0	0	0	A	48458913	G	A	48458913	4	1	328	1	0	0	0	0	0	1	0	0	14133	1357	47	4	749	4	SENP1	12	48458913	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	86455	48458913	85392982	1624	59838											
OR10AD1	121275	broad.mit.edu	37	chr12	48596794	48596794	+	Silent	SNP	G	G	A																															tgggtcatgcaacatacaaaGgagacaatgtggtccctgac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48596794G>A	ENST00000310248.2	-	1	376	c.282C>T	c.(280-282)tcC>tcT	p.S94S		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AACATACAAAGGAGACAATGT	0.498													15	19					0	0	0	0	A	48596794	G	A	48596794	2	1	328	1	0	0	0	0	0	0	0	1	10967	987	35	4		4	OR10AD1	12	48596794	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	137881	48596794	85255101	1625	59839	625	2									
OR10AD1	121275	broad.mit.edu	37	chr12	48596795	48596795	+	Missense_Mutation	SNP	G	G	A																															gggtcatgcaacatacaaagGagacaatgtggtccctgacc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48596795G>A	ENST00000310248.2	-	1	375	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						ACATACAAAGGAGACAATGTG	0.498													15	19					0	0	0	0	A	48596795	G	A	48596795	3	1	328	1	0	0	0	0	1	0	0	0	10967	1174	41	2	676	2	OR10AD1	12	48596795	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	48596795	85255100	1626	59840	625	2									
H1FNT	341567	broad.mit.edu	37	chr12	48723521	48723521	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccctggaggaccccagcCgcgccccggagctcccggag	5	3	14	19	4	0	0	0	0	0	0	2	4	2	4	7	4	2	2	7	4	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48723521C>T	ENST00000335017.1	+	1	759	c.447C>T	c.(445-447)gcC>gcT	p.A149A		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	149	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GGACCCCAGCCGCGCCCCGGA	0.711													5	6					0	0	0	0	T	48723521	C	T	48723521	2	4	328	1	0	0	0	0	0	0	0	1	6971	639	23	1		1	H1FNT	12	48723521	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	126726	48723521	85128374	1627	59841											
OR8S1	341568	broad.mit.edu	37	chr12	48919588	48919588	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcttgtctccataagccCatgtatttcttcctgagtca	8	16	6	11	0	4	1	1	1	3	0	6	2	5	1	3	0	1	1	3	0	2	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48919588C>T	ENST00000310194.1	+	1	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TCCATAAGCCCATGTATTTCT	0.473													42	80					0	0	0	0	T	48919588	C	T	48919588	2	4	328	1	0	0	0	0	0	0	0	1	11317	581	21	4		4	OR8S1	12	48919588	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	196067	48919588	84932307	1628	59842											
WNT1	7471	broad.mit.edu	37	chr12	49373452	49373452	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagttccggaatcgccgctgGaactgtcccactgctccagg	7	8	11	15	3	0	0	0	0	0	0	4	2	3	2	4	3	2	3	4	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:49373452G>A	ENST00000293549.3	+	2	342	c.306G>A	c.(304-306)tgG>tgA	p.W102*		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	102					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		ATCGCCGCTGGAACTGTCCCA	0.662													20	32					0	0	0	0	A	49373452	G	A	49373452	4	1	328	1	0	0	0	0	0	1	0	0	17477	1183	41	2	312	2	WNT1	12	49373452	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	453864	49373452	84478443	1629	59843											
DHH	50846	broad.mit.edu	37	chr12	49484969	49484969	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtagacccagtcgaagccGgcttccactgcgaggcgcgc	8	6	13	14	5	0	1	0	0	0	1	2	3	1	1	3	2	2	2	3	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:49484969G>A	ENST00000266991.2	-	2	813	c.507C>T	c.(505-507)gcC>gcT	p.A169A	RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	169					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						AGTCGAAGCCGGCTTCCACTG	0.592													60	99					0	0	0	0	A	49484969	G	A	49484969	2	1	328	1	0	0	0	0	0	0	0	1	4520	1103	39	1		1	DHH	12	49484969	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	111517	49484969	84366926	1630	59844											
DIP2B	57609	broad.mit.edu	37	chr12	51112497	51112497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttatttacaggtgtaGgccctgcttccgtgatggtt	6	16	11	8	1	0	1	0	1	0	0	1	1	1	1	2	3	3	4	2	3	3	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:51112497G>A	ENST00000301180.5	+	24	2891	c.2857G>A	c.(2857-2859)Ggc>Agc	p.G953S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	953						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TACAGGTGTAGGCCCTGCTTC	0.448													10	20					0	0	0	0	A	51112497	G	A	51112497	3	1	328	1	0	0	0	0	1	0	0	0	4565	1000	35	4	2951	4	DIP2B	12	51112497	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1627528	51112497	82739398	1631	59845											
DIP2B	57609	broad.mit.edu	37	chr12	51135298	51135298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattgagacctcggtgtcccGgatccacagaagcattgctg	9	10	11	11	2	0	2	0	1	0	2	3	4	2	3	3	2	2	2	3	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:51135298G>A	ENST00000301180.5	+	37	4488	c.4454G>A	c.(4453-4455)cGg>cAg	p.R1485Q		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1485						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCGGTGTCCCGGATCCACAGA	0.463													27	36					0	0	0	0	A	51135298	G	A	51135298	3	1	328	1	0	0	0	0	1	0	0	0	4565	1116	39	1	4600	1	DIP2B	12	51135298	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	22801	51135298	82716597	1632	59846											
SCN8A	6334	broad.mit.edu	37	chr12	52200862	52200862	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatagcggggagttggacatCctgcggcagcagatggaaga	11	6	17	7	2	0	2	0	0	0	2	1	6	1	5	1	5	3	3	1	5	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52200862C>T	ENST00000354534.5	+	27	5770	c.5592C>T	c.(5590-5592)atC>atT	p.I1864I	SCN8A_ENST00000545061.1_Silent_p.I1823I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1864					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGTTGGACATCCTGCGGCAGC	0.557													79	99					0	0	0	0	T	52200862	C	T	52200862	2	4	328	1	0	0	0	0	0	0	0	1	14011	845	30	2		2	SCN8A	12	52200862	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1065564	52200862	81651033	1633	59847											
ANKRD33	341405	broad.mit.edu	37	chr12	52283227	52283227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggaacgccgggaccagcggGggctcacggcgttaatgaag	9	5	17	10	5	1	1	1	1	0	0	1	3	1	3	2	5	2	2	2	5	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52283227G>A	ENST00000301190.6	+	4	825	c.598G>A	c.(598-600)Ggg>Agg	p.G200R	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_Missense_Mutation_p.G65R	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	65										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGACCAGCGGGGGCTCACGGC	0.657													25	37					0	0	0	0	A	52283227	G	A	52283227	3	1	328	1	0	0	0	0	1	0	0	0	660	1232	43	4	612	4	ANKRD33	12	52283227	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	82365	52283227	81568668	1634	59848											
ANKRD33	341405	broad.mit.edu	37	chr12	52284409	52284409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accctgttcggggcaagacgGccctggaatgggcagtgctg	7	7	16	11	2	0	1	0	0	0	1	1	2	0	2	2	5	1	4	2	5	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52284409G>T	ENST00000301190.6	+	5	906	c.679G>T	c.(679-681)Gcc>Tcc	p.A227S	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.A33S|ANKRD33_ENST00000340970.4_Missense_Mutation_p.A102S	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	102										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGGCAAGACGGCCCTGGAATG	0.622													12	14					0.0167234	0.0167434	1	0	T	52284409	G	T	52284409	3	4	328	1	0	0	0	0	1	0	0	0	660	1203	42	4	727	4	ANKRD33	12	52284409	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1182	52284409	81567486	1635	59849											
KRT83	3889	broad.mit.edu	37	chr12	52714879	52714879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgacacggtggtgatgcatgGggggctgggtccgcacacgc	6	6	18	11	4	0	1	0	1	0	0	1	2	1	1	1	6	1	3	1	6	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52714879G>A	ENST00000293670.3	-	1	303	c.241C>T	c.(241-243)Cca>Tca	p.P81S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	81	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GTGATGCATGGGGGGCTGGGT	0.692													30	61					0	0	0	0	A	52714879	G	A	52714879	3	1	328	1	0	0	0	0	1	0	0	0	8549	1232	43	4	1276	4	KRT83	12	52714879	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	430470	52714879	81137016	1636	59850											
KRT82	3888	broad.mit.edu	37	chr12	52797673	52797673	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtctccagcagcttgttCttctgctccaggaaacggac	7	12	10	12	1	3	0	0	0	3	0	5	2	4	2	2	3	4	4	2	3	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52797673C>T	ENST00000257974.2	-	2	509	c.432G>A	c.(430-432)aaG>aaA	p.K144K		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	144	Coil 1A.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GCAGCTTGTTCTTCTGCTCCA	0.542													19	19					0	0	0	0	T	52797673	C	T	52797673	2	4	328	1	0	0	0	0	0	0	0	1	8548	912	32	2		2	KRT82	12	52797673	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	82794	52797673	81054222	1637	59851											
KRT74	121391	broad.mit.edu	37	chr12	52961457	52961457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcacagatgctcacagagGatggattctcaccagacatc	13	8	8	12	0	3	3	3	0	1	3	5	5	3	5	1	2	1	1	1	2	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52961457G>A	ENST00000549343.1	-	9	1456	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	KRT74_ENST00000305620.2_Missense_Mutation_p.S459F			Q7RTS7	K2C74_HUMAN	keratin 74	459	Tail.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCTCACAGAGGATGGATTCTC	0.458													20	33					0	0	0	0	A	52961457	G	A	52961457	3	1	328	1	0	0	0	0	1	0	0	0	8539	1174	41	2	221	2	KRT74	12	52961457	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	163784	52961457	80890438	1638	59852											
KRT3	3850	broad.mit.edu	37	chr12	53189633	53189633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccacgctgatggagatgCtcttgttgccgcccaggttg	5	11	13	12	2	1	2	0	1	1	1	1	3	1	2	3	2	3	4	3	2	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:53189633C>T	ENST00000417996.2	-	1	268	c.194G>A	c.(193-195)aGc>aAc	p.S65N	KRT3_ENST00000309505.3_Missense_Mutation_p.S65N	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	65	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GATGGAGATGCTCTTGTTGCC	0.672													57	92					0	0	0	0	T	53189633	C	T	53189633	3	4	328	1	0	0	0	0	1	0	0	0	8518	797	28	4	1728	4	KRT3	12	53189633	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	228176	53189633	80662262	1639	59853											
KRT79	338785	broad.mit.edu	37	chr12	53223873	53223873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactttgccatgcagatcCatccggcccatgtatgctgc	7	10	8	16	1	0	1	0	0	0	1	2	1	2	1	5	1	4	3	5	1	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:53223873C>T	ENST00000330553.5	-	4	823	c.789G>A	c.(787-789)atG>atA	p.M263I		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	263	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATGCAGATCCATCCGGCCCA	0.567													24	40					0	0	0	0	T	53223873	C	T	53223873	3	4	328	1	0	0	0	0	1	0	0	0	8544	594	21	4	842	4	KRT79	12	53223873	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	34240	53223873	80628022	1640	59854											
TENC1	23371	broad.mit.edu	37	chr12	53453557	53453557	+	Missense_Mutation	SNP	G	G	A																															gtatggactgcggctggagaGggaggctggagaagggtggg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:53453557G>A	ENST00000314250.6	+	18	2422	c.2132G>A	c.(2131-2133)aGg>aAg	p.R711K	TENC1_ENST00000549700.1_Missense_Mutation_p.R711K|TENC1_ENST00000451358.1_Missense_Mutation_p.R701K|TENC1_ENST00000546602.1_Missense_Mutation_p.R711K|TENC1_ENST00000314276.3_Missense_Mutation_p.R721K|TENC1_ENST00000379902.3_Missense_Mutation_p.R587K|TENC1_ENST00000552570.1_Missense_Mutation_p.R711K	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	711					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CGGCTGGAGAGGGAGGCTGGA	0.662													14	25					0	0	0	0	A	53453557	G	A	53453557	3	1	328	1	0	0	0	0	1	0	0	0	15852	1000	35	4	2311	4	TENC1	12	53453557	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	229684	53453557	80398338	1641	59855	626	2									
TENC1	23371	broad.mit.edu	37	chr12	53453558	53453558	+	Silent	SNP	G	G	A																															tatggactgcggctggagagGgaggctggagaagggtgggc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:53453558G>A	ENST00000314250.6	+	18	2423	c.2133G>A	c.(2131-2133)agG>agA	p.R711R	TENC1_ENST00000549700.1_Silent_p.R711R|TENC1_ENST00000451358.1_Silent_p.R701R|TENC1_ENST00000546602.1_Silent_p.R711R|TENC1_ENST00000314276.3_Silent_p.R721R|TENC1_ENST00000379902.3_Silent_p.R587R|TENC1_ENST00000552570.1_Silent_p.R711R	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	711					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGCTGGAGAGGGAGGCTGGAG	0.667													14	25					0	0	0	0	A	53453558	G	A	53453558	2	1	328	1	0	0	0	0	0	0	0	1	15852	1223	43	4		4	TENC1	12	53453558	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	53453558	80398337	1642	59856	626	2									
ESPL1	9700	broad.mit.edu	37	chr12	53681818	53681818	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggcctggctggcagaGgagcctaagagacggggcac	9	4	18	10	1	0	3	0	1	0	2	0	5	0	4	2	6	1	4	2	6	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:53681818G>A	ENST00000257934.4	+	19	4330	c.4239G>A	c.(4237-4239)gaG>gaA	p.E1413E	ESPL1_ENST00000552462.1_Silent_p.E1413E	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1413					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCTGGCAGAGGAGCCTAAGA	0.607											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	32					0	0	0	0	A	53681818	G	A	53681818	2	1	328	1	0	0	0	0	0	0	0	1	5291	991	35	4		4	ESPL1	12	53681818	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	228260	53681818	80170077	1643	59857											
ITGA5	3678	broad.mit.edu	37	chr12	54795370	54795370	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttgcctggcactgaccCgttcagggtgacctgggcct	5	11	12	13	1	1	2	1	2	0	0	1	2	1	2	4	3	1	2	4	3	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:54795370C>T	ENST00000293379.4	-	23	2647	c.2387_splice	c.e23+1	p.G796_splice	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	796					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.G796C(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GGCACTGACCCGTTCAGGGTG	0.562													59	91					0	0	0	0	T	54795370	C	T	54795370	5	4	328	1	0	0	0	0	0	0	1	0	7932	666	23	1	795	1	ITGA5	12	54795370	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1113552	54795370	79056525	1644	59858											
NCKAP1L	3071	broad.mit.edu	37	chr12	54917272	54917272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaaggagagcccgagaGggacaagccaggagctgaga	16	1	16	8	1	0	4	0	1	0	4	0	9	0	6	2	3	3	1	2	3	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:54917272G>A	ENST00000293373.6	+	19	2052	c.1973G>A	c.(1972-1974)aGg>aAg	p.R658K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R608K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	658					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GAGCCCGAGAGGGACAAGCCA	0.542													44	57					0	0	0	0	A	54917272	G	A	54917272	3	1	328	1	0	0	0	0	1	0	0	0	10292	1000	35	4	2047	4	NCKAP1L	12	54917272	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	121902	54917272	78934623	1645	59859											
DCD	117159	broad.mit.edu	37	chr12	55039040	55039040	+	Missense_Mutation	SNP	C	C	T																															ctttttttgctccgtctaggCctttttctagggtggattca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:55039040C>T	ENST00000456047.2	-	4	395	c.206G>A	c.(205-207)gGc>gAc	p.G69D	DCD_ENST00000293371.6_Missense_Mutation_p.G69D			P81605	DCD_HUMAN	dermcidin	69					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				TCCGTCTAGGCCTTTTTCTAG	0.488													28	47					0	0	0	0	T	55039040	C	T	55039040	3	4	328	1	0	0	0	0	1	0	0	0	4315	739	26	4	134	4	DCD	12	55039040	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	121768	55039040	78812855	1646	59860	627	2									
DCD	117159	broad.mit.edu	37	chr12	55039041	55039041	+	Missense_Mutation	SNP	C	C	T																															tttttttgctccgtctaggcCtttttctagggtggattcag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:55039041C>T	ENST00000456047.2	-	4	394	c.205G>A	c.(205-207)Ggc>Agc	p.G69S	DCD_ENST00000293371.6_Missense_Mutation_p.G69S			P81605	DCD_HUMAN	dermcidin	69					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CCGTCTAGGCCTTTTTCTAGG	0.493													29	48					0	0	0	0	T	55039041	C	T	55039041	3	4	328	1	0	0	0	0	1	0	0	0	4315	681	24	4	135	4	DCD	12	55039041	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	55039041	78812854	1647	59861	627	2									
OR9K2	441639	broad.mit.edu	37	chr12	55524117	55524117	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttattcagactagcatgacaTttactttatctttttgcgct	9	19	5	8	1	2	2	1	1	1	1	2	2	2	2	0	0	3	2	0	0	4	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:55524117T>A	ENST00000305377.5	+	1	653	c.565T>A	c.(565-567)Ttt>Att	p.F189I		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TAGCATGACATTTACTTTATC	0.428													46	56					0	0	0	0	A	55524117	T	A	55524117	3	1	328	1	0	0	0	0	1	0	0	0	11325	1493	52	5	567	5	OR9K2	12	55524117	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	485076	55524117	78327778	1648	59862											
OR6C65	403282	broad.mit.edu	37	chr12	55794384	55794384	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacccagagttacaagttgtGatattcttctttatgttgat	11	17	7	6	0	2	3	0	2	2	1	2	3	2	3	1	0	2	3	1	0	5	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:55794384G>A	ENST00000379665.2	+	1	171	c.72G>A	c.(70-72)gtG>gtA	p.V24V		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TACAAGTTGTGATATTCTTCT	0.318													20	12					0	0	0	0	A	55794384	G	A	55794384	2	1	328	1	0	0	0	0	0	0	0	1	11266	1277	45	2		2	OR6C65	12	55794384	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	270267	55794384	78057511	1649	59863											
OR6C70	390327	broad.mit.edu	37	chr12	55863154	55863154	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcgctgatggctttatgtAgataaacatacaactaccat	14	13	6	8	1	0	2	0	1	0	1	1	2	0	2	1	1	4	3	1	1	7	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:55863154A>T	ENST00000327335.4	-	1	768	c.769T>A	c.(769-771)Tac>Aac	p.Y257N	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GGCTTTATGTAGATAAACATA	0.388													50	53					0	0	0	0	T	55863154	A	T	55863154	3	4	328	1	0	0	0	0	1	0	0	0	11268	420	15	5	171	5	OR6C70	12	55863154	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	68770	55863154	77988741	1650	59864											
ITGA7	3679	broad.mit.edu	37	chr12	56078980	56078980	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgcccgtcttctcctcCttgaactgctgtcggtcttc	3	15	9	14	2	3	1	0	1	3	0	7	1	4	1	3	2	3	1	3	2	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:56078980C>T	ENST00000257879.6	-	25	3491	c.3276G>A	c.(3274-3276)aaG>aaA	p.K1092K	ITGA7_ENST00000553804.1_Silent_p.K1096K|ITGA7_ENST00000347027.6_Silent_p.K1086K|ITGA7_ENST00000555728.1_Silent_p.K1136K|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000452168.2_Silent_p.K999K|ITGA7_ENST00000394230.2_3'UTR	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN	integrin, alpha 7	1136					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCTTCTCCTCCTTGAACTGCT	0.637													28	57					0	0	0	0	T	56078980	C	T	56078980	2	4	328	1	0	0	0	0	0	0	0	1	7934	680	24	4		4	ITGA7	12	56078980	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	215826	56078980	77772915	1651	59865											
IKZF4	64375	broad.mit.edu	37	chr12	56428581	56428581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctacacccagatgcagccCctccctggtcgactggagct	7	8	10	16	1	1	1	0	0	1	1	3	3	2	2	4	2	4	2	4	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:56428581C>T	ENST00000262032.5	+	12	1591	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Silent_p.P306P|IKZF4_ENST00000547791.1_Silent_p.P363P|IKZF4_ENST00000547167.1_Silent_p.P408P			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	408					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGATGCAGCCCCTCCCTGGTC	0.632													23	31					0	0	0	0	T	56428581	C	T	56428581	2	4	328	1	0	0	0	0	0	0	0	1	7670	610	22	4		4	IKZF4	12	56428581	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	349601	56428581	77423314	1652	59866											
IKZF4	64375	broad.mit.edu	37	chr12	56428794	56428794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccctcagggtcccccaccCcagccacctcccaccattgt	6	7	5	23	0	1	0	1	0	0	0	4	0	4	0	9	1	1	0	9	1	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:56428794C>T	ENST00000262032.5	+	12	1804	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Silent_p.P377P|IKZF4_ENST00000547791.1_Silent_p.P434P|IKZF4_ENST00000547167.1_Silent_p.P479P			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	479					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTCCCCCACCCCAGCCACCTC	0.657													10	16					0	0	0	0	T	56428794	C	T	56428794	2	4	328	1	0	0	0	0	0	0	0	1	7670	610	22	4		4	IKZF4	12	56428794	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	213	56428794	77423101	1653	59867											
ERBB3	2065	broad.mit.edu	37	chr12	56491581	56491581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctacagggaatgtactacCttgaggaacatggtatggtg	12	10	12	7	0	0	1	0	1	0	0	0	3	0	3	2	4	4	2	2	4	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:56491581C>T	ENST00000267101.3	+	21	2913	c.2473C>T	c.(2473-2475)Ctt>Ttt	p.L825F	ERBB3_ENST00000415288.2_Missense_Mutation_p.L766F|ERBB3_ENST00000553131.1_Missense_Mutation_p.L66F|ERBB3_ENST00000450146.2_Missense_Mutation_p.L182F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	825	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AATGTACTACCTTGAGGAACA	0.483													46	106					0	0	0	0	T	56491581	C	T	56491581	3	4	328	1	0	0	0	0	1	0	0	0	5246	681	24	4	2686	4	ERBB3	12	56491581	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	62787	56491581	77360314	1654	59868											
PAN2	9924	broad.mit.edu	37	chr12	56721345	56721345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgccatgcacatcaaagTctgacagacttcctgagaag	12	9	10	10	0	2	3	1	2	1	2	3	4	3	3	2	1	2	2	2	1	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:56721345T>C	ENST00000425394.2	-	6	1098	c.722A>G	c.(721-723)gAc>gGc	p.D241G	PAN2_ENST00000440411.3_Missense_Mutation_p.D241G|PAN2_ENST00000548043.1_Missense_Mutation_p.D241G|PAN2_ENST00000257931.5_Missense_Mutation_p.D241G	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	241					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CACATCAAAGTCTGACAGACT	0.488													25	46					0	0	0	0	C	56721345	T	C	56721345	3	2	328	1	0	0	0	0	1	0	0	0	11485	1667	58	5	2970	5	PAN2	12	56721345	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	229764	56721345	77130550	1655	59869											
NACA	4666	broad.mit.edu	37	chr12	57112046	57112046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtagctgggcctccttttgGggagggaggagtcgcagctg	5	9	19	8	1	0	0	0	0	0	0	2	3	1	3	2	6	2	4	2	6	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:57112046G>A	ENST00000454682.1	-	3	3549	c.3268C>T	c.(3268-3270)Cca>Tca	p.P1090S	NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCTCCTTTTGGGGAGGGAGGA	0.657			T	BCL6	NHL								30	51					0	0	0	0	A	57112046	G	A	57112046	3	1	328	1	0	0	0	0	1	0	0	0	10203	1232	43	4	2996	4	NACA	12	57112046	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	390701	57112046	76739849	1656	59870											
SDR9C7	121214	broad.mit.edu	37	chr12	57324258	57324258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaccagcattgttcaccagGgcccagaggcctgggggtga	9	6	14	12	0	1	2	1	1	0	1	1	2	1	2	4	4	1	2	4	4	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:57324258G>A	ENST00000293502.1	-	2	455	c.312C>T	c.(310-312)gcC>gcT	p.A104A		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	104						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TGTTCACCAGGGCCCAGAGGC	0.562													17	26					0	0	0	0	A	57324258	G	A	57324258	2	1	328	1	0	0	0	0	0	0	0	1	14061	1219	43	4		4	SDR9C7	12	57324258	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	212212	57324258	76527637	1657	59871											
TMEM194A	23306	broad.mit.edu	37	chr12	57464648	57464648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattctccacctgggtgactCgaaccaatctggaactattt	10	12	7	12	1	2	1	0	1	2	0	4	3	2	2	3	2	2	0	3	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:57464648C>T	ENST00000300128.4	-	3	304	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	TMEM194A_ENST00000553654.1_5'UTR|TMEM194A_ENST00000379391.3_Missense_Mutation_p.R94Q	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	94						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGGGTGACTCGAACCAATCT	0.343													17	34					0	0	0	0	T	57464648	C	T	57464648	3	4	328	1	0	0	0	0	1	0	0	0	16210	884	31	1	1081	1	TMEM194A	12	57464648	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	140390	57464648	76387247	1658	59872											
LRP1	4035	broad.mit.edu	37	chr12	57606240	57606240	+	Missense_Mutation	SNP	G	G	C																															tgtatgccacactctacatgGggggccatggcagtcgccac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:57606240G>C	ENST00000243077.3	+	89	14003	c.13537G>C	c.(13537-13539)Ggg>Cgg	p.G4513R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4513	Interaction with MAFB (By similarity).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACTCTACATGGGGGGCCATGG	0.642													16	42					0	0	0	0	C	57606240	G	C	57606240	3	2	328	1	0	0	0	0	1	0	0	0	9015	1232	43	4	13891	4	LRP1	12	57606240	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	141592	57606240	76245655	1659	59873	628	2									
LRP1	4035	broad.mit.edu	37	chr12	57606241	57606241	+	Missense_Mutation	SNP	G	G	A																															gtatgccacactctacatggGgggccatggcagtcgccact																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:57606241G>A	ENST00000243077.3	+	89	14004	c.13538G>A	c.(13537-13539)gGg>gAg	p.G4513E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4513	Interaction with MAFB (By similarity).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTCTACATGGGGGGCCATGGC	0.647													18	41					0	0	0	0	A	57606241	G	A	57606241	3	1	328	1	0	0	0	0	1	0	0	0	9015	1232	43	4	13892	4	LRP1	12	57606241	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	57606241	76245654	1660	59874	628	2									
FAM19A2	338811	broad.mit.edu	37	chr12	62147517	62147517	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaccaccatttctgttcCactattgaagctataagaga	12	12	7	10	0	1	2	0	1	1	1	2	3	2	2	3	1	1	3	3	1	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:62147517C>T	ENST00000416284.3	-	4	1854	c.270G>A	c.(268-270)gtG>gtA	p.V90V	FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551619.1_Silent_p.V90V|FAM19A2_ENST00000551449.1_Intron	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	90						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		ATTTCTGTTCCACTATTGAAG	0.388													59	12					0	0	0	0	T	62147517	C	T	62147517	2	4	328	1	0	0	0	0	0	0	0	1	5575	581	21	4		4	FAM19A2	12	62147517	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4541276	62147517	71704378	1661	59875											
DYRK2	8445	broad.mit.edu	37	chr12	68052290	68052290	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctttgcggcacccctggCtgaggaggcggttgccaaag	7	7	16	11	2	0	1	0	1	0	0	0	2	0	2	3	6	2	4	3	6	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:68052290C>T	ENST00000344096.3	+	3	2016	c.1603C>T	c.(1603-1605)Ctg>Ttg	p.L535L	DYRK2_ENST00000393555.3_Silent_p.L462L	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	535	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GCACCCCTGGCTGAGGAGGCG	0.542													113	31					0	0	0	0	T	68052290	C	T	68052290	2	4	328	1	0	0	0	0	0	0	0	1	4892	796	28	4		4	DYRK2	12	68052290	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5904773	68052290	65799605	1662	59876											
MDM1	56890	broad.mit.edu	37	chr12	68716966	68716966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgtattcagtttcatGgatgactgagttacctttga	8	19	8	6	0	3	3	2	3	1	0	3	4	3	4	1	1	1	3	1	1	2	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:68716966G>A	ENST00000303145.7	-	5	774	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	MDM1_ENST00000411698.2_Missense_Mutation_p.H185Y|MDM1_ENST00000540418.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	230						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TCAGTTTCATGGATGACTGAG	0.299													19	44					0	0	0	0	A	68716966	G	A	68716966	3	1	328	1	0	0	0	0	1	0	0	0	9481	1348	47	4	1496	4	MDM1	12	68716966	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	664676	68716966	65134929	1663	59877											
LRRC10	376132	broad.mit.edu	37	chr12	70004470	70004470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttgaccagctccctgaagGagcacacgtgcagggggaag	10	5	15	11	1	0	2	0	2	0	0	1	4	1	4	2	3	3	4	2	3	2	1	rs141358220		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:70004470G>A	ENST00000361484.3	-	1	472	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	50						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTCCCTGAAGGAGCACACGTG	0.592													14	29					0	0	0	0	A	70004470	G	A	70004470	3	1	328	1	0	0	0	0	1	0	0	0	9031	1174	41	2	688	2	LRRC10	12	70004470	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1287504	70004470	63847425	1664	59878											
NAV3	89795	broad.mit.edu	37	chr12	78400818	78400818	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctccaaaaaagacctcCaaaattgcaagcttgatccc	15	8	6	12	0	0	2	0	1	0	1	3	2	3	2	4	1	2	3	4	1	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:78400818C>T	ENST00000397909.2	+	8	1673	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	NAV3_ENST00000228327.6_Silent_p.S500S|NAV3_ENST00000536525.2_Silent_p.S500S|NAV3_ENST00000266692.7_Silent_p.S500S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	500						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAAGACCTCCAAAATTGCAA	0.413										HNSCC(70;0.22)			56	14					0	0	0	0	T	78400818	C	T	78400818	2	4	328	1	0	0	0	0	0	0	0	1	10255	581	21	4		4	NAV3	12	78400818	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	8396348	78400818	55451077	1665	59879											
MYF5	4617	broad.mit.edu	37	chr12	81110921	81110921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcataccgtcccccgagggtGaatttggggacgagtttgtg	7	10	15	9	3	0	1	0	1	0	0	1	4	1	2	3	3	1	2	3	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:81110921G>A	ENST00000228644.3	+	1	231	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	27					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCCCGAGGGTGAATTTGGGGA	0.622													19	32					0	0	0	0	A	81110921	G	A	81110921	3	1	328	1	0	0	0	0	1	0	0	0	10097	1291	45	2	81	2	MYF5	12	81110921	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2710103	81110921	52740974	1666	59880											
C12orf29	91298	broad.mit.edu	37	chr12	88440660	88440660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataagaaatctaccttcattGaagcacaatgatctcgtgtc	14	12	6	9	1	3	3	1	2	2	1	5	3	3	3	1	0	2	1	1	0	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:88440660G>A	ENST00000356891.3	+	6	899	c.696G>A	c.(694-696)ttG>ttA	p.L232L	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	232										large_intestine(3)|lung(1)|ovary(1)	5						TACCTTCATTGAAGCACAATG	0.383													139	34					0	0	0	0	A	88440660	G	A	88440660	2	1	328	1	0	0	0	0	0	0	0	1	1692	1281	45	2		2	C12orf29	12	88440660	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7329739	88440660	45411235	1667	59881											
ELK3	2004	broad.mit.edu	37	chr12	96640976	96640976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attccctgcagaacccaccaGacgccttcaaggccatcaag	12	6	7	16	1	2	2	2	0	0	2	3	2	3	2	5	1	2	1	5	1	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:96640976G>A	ENST00000228741.3	+	3	792	c.466G>A	c.(466-468)Gac>Aac	p.D156N	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	156					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GAACCCACCAGACGCCTTCAA	0.572													25	7					0	0	0	0	A	96640976	G	A	96640976	3	1	328	1	0	0	0	0	1	0	0	0	5098	942	33	2	472	2	ELK3	12	96640976	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	8200316	96640976	37210919	1668	59882											
SLC5A8	160728	broad.mit.edu	37	chr12	101576605	101576605	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttgggaaatccaagacaGagacctttctgagagcgatc	12	9	10	10	1	1	3	0	1	1	3	4	7	3	4	3	1	1	0	3	1	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:101576605G>A	ENST00000536262.2	-	9	1699	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	381					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATCCAAGACAGAGACCTTTCT	0.383													59	19					0	0	0	0	A	101576605	G	A	101576605	2	1	328	1	0	0	0	0	0	0	0	1	14759	933	33	2		2	SLC5A8	12	101576605	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4935629	101576605	32275290	1669	59883											
MYBPC1	4604	broad.mit.edu	37	chr12	102025393	102025393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtcaaggctgaagatcttCtgagaaaacccactatcaaa	17	8	7	9	0	4	3	2	2	2	2	4	4	4	3	1	1	1	1	1	1	7	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:102025393C>T	ENST00000549145.1	+	6	398	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.L87L|MYBPC1_ENST00000361685.2_Silent_p.L112L|MYBPC1_ENST00000361466.2_Silent_p.L112L|MYBPC1_ENST00000547405.1_Silent_p.L61L|MYBPC1_ENST00000545503.2_Silent_p.L87L|MYBPC1_ENST00000360610.2_Silent_p.L87L|MYBPC1_ENST00000541119.1_Silent_p.L75L|MYBPC1_ENST00000553190.1_Silent_p.L87L|MYBPC1_ENST00000441232.1_Silent_p.L87L|MYBPC1_ENST00000536007.1_Silent_p.L87L|MYBPC1_ENST00000452455.2_Silent_p.L87L|MYBPC1_ENST00000547509.1_Silent_p.L73L|MYBPC1_ENST00000392934.3_Silent_p.L74L			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	87	Ig-like C2-type 1.				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						TGAAGATCTTCTGAGAAAACC	0.448													74	17					0	0	0	0	T	102025393	C	T	102025393	2	4	328	1	0	0	0	0	0	0	0	1	10081	912	32	2		2	MYBPC1	12	102025393	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	448788	102025393	31826502	1670	59884											
IGF1	3479	broad.mit.edu	37	chr12	102811603	102811603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcctcctgtccttcattttCcttttttgcctctgcattca	4	20	3	14	0	3	0	2	0	1	0	7	0	7	0	5	0	2	1	5	0	0	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:102811603C>T	ENST00000307046.8	-	4	762	c.581G>A	c.(580-582)gGa>gAa	p.G194E	IGF1_ENST00000392904.1_Intron|IGF1_ENST00000424202.2_Intron|IGF1_ENST00000456098.1_Intron|IGF1_ENST00000337514.6_Intron	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	194					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						CCTTCATTTTCCTTTTTTGCC	0.438													215	67					0	0	0	0	T	102811603	C	T	102811603	3	4	328	1	0	0	0	0	1	0	0	0	7623	855	30	2	74	2	IGF1	12	102811603	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	786210	102811603	31040292	1671	59885											
C12orf42	374470	broad.mit.edu	37	chr12	103695916	103695916	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagcattcaccaccggcctAgaaagggcctgtgaacaaac	13	6	10	12	1	1	3	1	2	0	1	1	3	1	3	4	2	3	1	4	2	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:103695916A>G	ENST00000548048.1	-	9	1348	c.852T>C	c.(850-852)tcT>tcC	p.S284S	C12orf42_ENST00000378113.2_Silent_p.S351S|C12orf42_ENST00000548883.1_Silent_p.S351S|C12orf42_ENST00000315192.8_Intron			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	351										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CCACCGGCCTAGAAAGGGCCT	0.537													80	18					0	0	0	0	G	103695916	A	G	103695916	2	3	328	1	0	0	0	0	0	0	0	1	1700	407	15	5		5	C12orf42	12	103695916	Silent	SNP	A	TCGA-CV-7568-01A-11D-2229-08	884313	103695916	30155979	1672	59886											
TDG	6996	broad.mit.edu	37	chr12	104378614	104378614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attactacataaaactgaagGacttaagagatcagttgaaa	19	10	7	5	0	1	3	1	2	0	1	1	5	1	4	0	1	3	1	0	1	7	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:104378614G>A	ENST00000392872.3	+	8	1114	c.880G>A	c.(880-882)Gac>Aac	p.D294N	TDG_ENST00000544861.1_Missense_Mutation_p.D151N|TDG_ENST00000542036.1_Missense_Mutation_p.D90N|TDG_ENST00000266775.9_Missense_Mutation_p.D290N	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	294					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAACTGAAGGACTTAAGAGA	0.418								Base excision repair (BER), DNA glycosylases					39	94					0	0	0	0	A	104378614	G	A	104378614	3	1	328	1	0	0	0	0	1	0	0	0	15819	1174	41	2	910	2	TDG	12	104378614	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	682698	104378614	29473281	1673	59887											
C12orf45	121053	broad.mit.edu	37	chr12	105381946	105381946	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtgtctgtattttcaggTatatgggacaggttgctcat	7	17	12	5	0	3	0	2	0	1	0	3	1	3	1	0	3	1	4	0	3	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:105381946T>G	ENST00000552951.1	+	2	160	c.115_splice	c.e2-1	p.G39_splice	C12orf45_ENST00000280749.5_Splice_Site_p.G39_splice	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	39										large_intestine(1)|lung(2)	3						TATTTTCAGGTATATGGGACA	0.433													15	3					0	0	0	0	G	105381946	T	G	105381946	5	3	328	1	0	0	0	0	0	0	1	0	1703	1652	57	5	123	5	C12orf45	12	105381946	Splice_Site	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1003332	105381946	28469949	1674	59888											
TCP11L2	255394	broad.mit.edu	37	chr12	106734726	106734726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gattcaagctaatcttatagGtcaattttcaagcattgaag	14	14	7	6	0	4	1	3	1	1	0	4	2	4	1	0	1	2	2	0	1	7	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:106734726G>A	ENST00000299045.3	+	9	1439	c.1265G>A	c.(1264-1266)gGt>gAt	p.G422D		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	422										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AATCTTATAGGTCAATTTTCA	0.373													90	76					0	0	0	0	A	106734726	G	A	106734726	3	1	328	1	0	0	0	0	1	0	0	0	15809	1261	44	4	1295	4	TCP11L2	12	106734726	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1352780	106734726	27117169	1675	59889											
RIC8B	55188	broad.mit.edu	37	chr12	107208848	107208848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgacttgcgcttgctcttCcttctgtcacttttgcacac	4	18	6	13	1	3	1	1	1	2	0	4	1	4	1	1	0	3	3	1	0	0	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:107208848C>T	ENST00000392837.4	+	3	658	c.507C>T	c.(505-507)ttC>ttT	p.F169F	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392839.2_Silent_p.F169F|RIC8B_ENST00000355478.2_Silent_p.F129F			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	169					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GCTTGCTCTTCCTTCTGTCAC	0.463													48	116					0	0	0	0	T	107208848	C	T	107208848	2	4	328	1	0	0	0	0	0	0	0	1	13439	854	30	2		2	RIC8B	12	107208848	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	474122	107208848	26643047	1676	59890											
TMEM119	338773	broad.mit.edu	37	chr12	108985354	108985354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcacaggggctttcggggGgacccactggtccctgggct	6	7	16	12	1	0	0	0	0	0	0	2	1	1	1	2	7	1	3	2	7	1	1	rs143295982		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:108985354G>A	ENST00000392806.3	-	2	974	c.806C>T	c.(805-807)cCc>cTc	p.P269L		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	269						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GCTTTCGGGGGGACCCACTGG	0.667													54	135					0	0	0	0	A	108985354	G	A	108985354	3	1	328	1	0	0	0	0	1	0	0	0	16126	1232	43	4	49	4	TMEM119	12	108985354	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1776506	108985354	24866541	1677	59891											
USP30	84749	broad.mit.edu	37	chr12	109509480	109509480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgagcgagaccgccagcctCgggtcacacatttgtttgat	9	10	11	11	3	1	3	1	2	0	1	2	4	1	3	3	1	2	1	3	1	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:109509480C>T	ENST00000257548.5	+	5	637	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	USP30_ENST00000392784.2_Missense_Mutation_p.R151W	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	182					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R173W(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCGCCAGCCTCGGGTCACACA	0.443													15	62					0	0	0	0	T	109509480	C	T	109509480	3	4	328	1	0	0	0	0	1	0	0	0	17157	875	31	1	562	1	USP30	12	109509480	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	524126	109509480	24342415	1678	59892											
ACACB	32	broad.mit.edu	37	chr12	109684212	109684212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagaggagatcaaacacAtgttccacgtggcttgggtg	10	9	14	8	1	1	2	1	0	0	2	2	3	2	2	1	4	1	3	1	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:109684212A>G	ENST00000338432.7	+	39	5649	c.5530A>G	c.(5530-5532)Atg>Gtg	p.M1844V	ACACB_ENST00000543201.1_Missense_Mutation_p.M510V|ACACB_ENST00000377854.5_Missense_Mutation_p.M1774V|ACACB_ENST00000377848.3_Missense_Mutation_p.M1844V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1844	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GATCAAACACATGTTCCACGT	0.567													25	69					0	0	0	0	G	109684212	A	G	109684212	3	3	328	1	0	0	0	0	1	0	0	0	107	217	8	5	5680	5	ACACB	12	109684212	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	174732	109684212	24167683	1679	59893											
ACACB	32	broad.mit.edu	37	chr12	109690903	109690903	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgtctcccacatcacCgtgccagatgactttgaggg	9	10	11	11	1	2	3	1	2	1	1	3	3	2	3	3	2	1	0	3	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:109690903C>T	ENST00000338432.7	+	43	6104	c.5985C>T	c.(5983-5985)acC>acT	p.T1995T	ACACB_ENST00000543201.1_Silent_p.T661T|ACACB_ENST00000377854.5_Silent_p.T1925T|ACACB_ENST00000377848.3_Silent_p.T1995T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1995	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCCACATCACCGTGCCAGATG	0.512													76	207					0	0	0	0	T	109690903	C	T	109690903	2	4	328	1	0	0	0	0	0	0	0	1	107	639	23	1		1	ACACB	12	109690903	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6691	109690903	24160992	1680	59894											
UBE3B	89910	broad.mit.edu	37	chr12	109972428	109972428	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actctgggcagcgtcctccgGggcttcttcaccatccgcaa	6	9	10	16	3	3	0	1	0	2	0	6	0	6	0	4	3	1	3	4	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:109972428G>A	ENST00000342494.3	+	28	3643	c.3048G>A	c.(3046-3048)cgG>cgA	p.R1016R	UBE3B_ENST00000434735.2_Silent_p.R1016R	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1016	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCGTCCTCCGGGGCTTCTTCA	0.637													57	41					0	0	0	0	A	109972428	G	A	109972428	2	1	328	1	0	0	0	0	0	0	0	1	16976	1219	43	4		4	UBE3B	12	109972428	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	281525	109972428	23879467	1681	59895											
ATP2A2	488	broad.mit.edu	37	chr12	110780229	110780229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcatccgctacctcatctCgtccaacgtcggggaagttg	7	11	10	13	4	3	0	2	0	1	0	7	1	5	1	3	2	2	3	3	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:110780229C>T	ENST00000395494.2	+	14	2776	c.2213C>T	c.(2212-2214)tCg>tTg	p.S738L	ATP2A2_ENST00000308664.6_Missense_Mutation_p.S765L|ATP2A2_ENST00000539276.2_Missense_Mutation_p.S765L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	765					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	p.S765L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TACCTCATCTCGTCCAACGTC	0.522													41	27					0	0	0	0	T	110780229	C	T	110780229	3	4	328	1	0	0	0	0	1	0	0	0	1141	893	31	1	2352	1	ATP2A2	12	110780229	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	807801	110780229	23071666	1682	59896											
ATP2A2	488	broad.mit.edu	37	chr12	110783811	110783811	+	Missense_Mutation	SNP	C	C	T																															ctccttgctctgcagcttgtCcgaaaaccagtccttgctga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:110783811C>T	ENST00000395494.2	+	18	3229	c.2666C>T	c.(2665-2667)tCc>tTc	p.S889F	ATP2A2_ENST00000308664.6_Missense_Mutation_p.S916F|ATP2A2_ENST00000539276.2_Missense_Mutation_p.S916F			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	916					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGCAGCTTGTCCGAAAACCAG	0.572													29	84					0	0	0	0	T	110783811	C	T	110783811	3	4	328	1	0	0	0	0	1	0	0	0	1141	855	30	2	2821	2	ATP2A2	12	110783811	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3582	110783811	23068084	1683	59897	629	2									
ATP2A2	488	broad.mit.edu	37	chr12	110783812	110783812	+	Silent	SNP	C	C	T																															tccttgctctgcagcttgtcCgaaaaccagtccttgctgag																								rs144955024	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:110783812C>T	ENST00000395494.2	+	18	3230	c.2667C>T	c.(2665-2667)tcC>tcT	p.S889S	ATP2A2_ENST00000308664.6_Silent_p.S916S|ATP2A2_ENST00000539276.2_Silent_p.S916S			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	916					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GCAGCTTGTCCGAAAACCAGT	0.572													30	84					0	0	0	0	T	110783812	C	T	110783812	2	4	328	1	0	0	0	0	0	0	0	1	1141	639	23	1		1	ATP2A2	12	110783812	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	110783812	23068083	1684	59898	629	2									
CCDC63	160762	broad.mit.edu	37	chr12	111342495	111342495	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcccgccacccttcatcaaCcctttctggggtggctctgc	5	11	8	17	1	4	0	2	0	2	0	5	0	5	0	4	3	2	1	4	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:111342495C>T	ENST00000308208.5	+	11	1688	c.1446C>T	c.(1444-1446)aaC>aaT	p.N482N	CCDC63_ENST00000545036.1_Silent_p.N442N|CCDC63_ENST00000552694.1_Silent_p.N403N	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	482										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CCTTCATCAACCCTTTCTGGG	0.587													39	90					0	0	0	0	T	111342495	C	T	111342495	2	4	328	1	0	0	0	0	0	0	0	1	2861	506	18	4		4	CCDC63	12	111342495	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	558683	111342495	22509400	1685	59899											
CUX2	23316	broad.mit.edu	37	chr12	111746270	111746270	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcactgcttattgcaaagGaggccttcttccccacgcag	9	10	8	14	1	2	0	1	0	1	0	3	1	3	1	3	2	2	3	3	2	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:111746270G>T	ENST00000261726.6	+	14	1352	c.1198G>T	c.(1198-1200)Gag>Tag	p.E400*		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	400						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TATTGCAAAGGAGGCCTTCTT	0.627													14	30					2.32078e-09	2.3404e-09	1	0	T	111746270	G	T	111746270	4	4	328	1	0	0	0	0	0	1	0	0	4097	1175	41	2	1252	2	CUX2	12	111746270	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	403775	111746270	22105625	1686	59900											
RASAL1	8437	broad.mit.edu	37	chr12	113553841	113553841	+	Silent	SNP	G	G	A																															aggcgtaccttcactcgcagGgcacccaggttccccctgtc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:113553841G>A	ENST00000546530.1	-	10	1032	c.747C>T	c.(745-747)gcC>gcT	p.A249A	RASAL1_ENST00000548055.1_Silent_p.A249A|RASAL1_ENST00000261729.5_Silent_p.A249A|RASAL1_ENST00000446861.3_Silent_p.A249A|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	249					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCACTCGCAGGGCACCCAGGT	0.582													48	18					0	0	0	0	A	113553841	G	A	113553841	2	1	328	1	0	0	0	0	0	0	0	1	13145	1219	43	4		4	RASAL1	12	113553841	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1807571	113553841	20298054	1687	59901	630	2									
RASAL1	8437	broad.mit.edu	37	chr12	113553842	113553842	+	Missense_Mutation	SNP	G	G	A																															ggcgtaccttcactcgcaggGcacccaggttccccctgtcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:113553842G>A	ENST00000546530.1	-	10	1031	c.746C>T	c.(745-747)gCc>gTc	p.A249V	RASAL1_ENST00000548055.1_Missense_Mutation_p.A249V|RASAL1_ENST00000261729.5_Missense_Mutation_p.A249V|RASAL1_ENST00000446861.3_Missense_Mutation_p.A249V|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	249					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CACTCGCAGGGCACCCAGGTT	0.577													48	18					0	0	0	0	A	113553842	G	A	113553842	3	1	328	1	0	0	0	0	1	0	0	0	13145	1203	42	4	1720	4	RASAL1	12	113553842	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	113553842	20298053	1688	59902	630	2									
MED13L	23389	broad.mit.edu	37	chr12	116406782	116406782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagcccacaccaattccaGaaggagagcctggggagggt	12	4	15	10	0	0	3	0	0	0	3	1	6	1	4	4	4	2	0	4	4	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:116406782G>A	ENST00000281928.3	-	28	6394	c.6188C>T	c.(6187-6189)tCt>tTt	p.S2063F		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2063					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACCAATTCCAGAAGGAGAGCC	0.473													36	33					0	0	0	0	A	116406782	G	A	116406782	3	1	328	1	0	0	0	0	1	0	0	0	9500	942	33	2	460	2	MED13L	12	116406782	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2852940	116406782	17445113	1689	59903											
FBXW8	26259	broad.mit.edu	37	chr12	117465256	117465256	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcatcacggccaacgtgccTtaccagacggtaatgcgaaa	12	7	9	13	4	2	1	2	0	0	1	2	2	2	1	3	2	4	1	3	2	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:117465256T>C	ENST00000455858.2	+	10	1474	c.1401T>C	c.(1399-1401)ccT>ccC	p.P467P	FBXW8_ENST00000309909.5_Silent_p.P533P	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	533							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CCAACGTGCCTTACCAGACGG	0.587													20	46					0	0	0	0	C	117465256	T	C	117465256	2	2	328	1	0	0	0	0	0	0	0	1	5815	1596	56	5		5	FBXW8	12	117465256	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1058474	117465256	16386639	1690	59904											
KSR2	283455	broad.mit.edu	37	chr12	118199103	118199103	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggggcgggcacaagccCgggtaggcgtccacggtaag	7	3	20	11	5	0	0	0	0	0	0	1	0	1	0	2	7	1	3	2	7	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:118199103C>T	ENST00000425217.1	-	4	666	c.612G>A	c.(610-612)ccG>ccA	p.P204P	KSR2_ENST00000339824.5_Silent_p.P233P	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	233	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCACAAGCCCGGGTAGGCGT	0.726													5	10					0	0	0	0	T	118199103	C	T	118199103	2	4	328	1	0	0	0	0	0	0	0	1	8635	639	23	1		1	KSR2	12	118199103	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	733847	118199103	15652792	1691	59905											
GCN1L1	10985	broad.mit.edu	37	chr12	120585974	120585974	+	Silent	SNP	G	G	A																															tcacgggaaaggcctacccaGgatctccgggttcctgataa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:120585974G>A	ENST00000300648.6	-	37	4735	c.4723C>T	c.(4723-4725)Ctg>Ttg	p.L1575L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1575					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCTACCCAGGATCTCCGGG	0.587													7	35					0	0	0	0	A	120585974	G	A	120585974	2	1	328	1	0	0	0	0	0	0	0	1	6348	991	35	4		4	GCN1L1	12	120585974	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2386871	120585974	13265921	1692	59906	631	2									
GCN1L1	10985	broad.mit.edu	37	chr12	120585975	120585975	+	Silent	SNP	G	G	A																															cacgggaaaggcctacccagGatctccgggttcctgataac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:120585975G>A	ENST00000300648.6	-	37	4734	c.4722C>T	c.(4720-4722)atC>atT	p.I1574I		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1574					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCTACCCAGGATCTCCGGGT	0.592													7	35					0	0	0	0	A	120585975	G	A	120585975	2	1	328	1	0	0	0	0	0	0	0	1	6348	1164	41	2		2	GCN1L1	12	120585975	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	120585975	13265920	1693	59907	631	2									
GCN1L1	10985	broad.mit.edu	37	chr12	120602165	120602165	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaactgaggacagtcttcAgctcctccaagagtccgtgc	10	8	11	12	1	2	3	1	1	1	2	5	5	5	4	3	1	3	1	3	1	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:120602165A>T	ENST00000300648.6	-	18	1835	c.1823T>A	c.(1822-1824)cTg>cAg	p.L608Q		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	608					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACAGTCTTCAGCTCCTCCAA	0.592													110	103					0	0	0	0	T	120602165	A	T	120602165	3	4	328	1	0	0	0	0	1	0	0	0	6348	188	7	5	6356	5	GCN1L1	12	120602165	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	16190	120602165	13249730	1694	59908											
SIRT4	23409	broad.mit.edu	37	chr12	120750389	120750389	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgacgtctttctctcagagGagcaagtccggagctttcag	8	11	12	10	2	4	2	2	1	2	1	6	4	5	4	1	2	2	2	1	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:120750389G>C	ENST00000202967.4	+	3	687	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	210	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTCTCAGAGGAGCAAGTCCG	0.577													24	58					0	0	0	0	C	120750389	G	C	120750389	3	2	328	1	0	0	0	0	1	0	0	0	14428	1175	41	2	634	2	SIRT4	12	120750389	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	148224	120750389	13101506	1695	59909											
PLA2G1B	5319	broad.mit.edu	37	chr12	120763812	120763812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgagggctgatgccgctgtCggcggcggccactgcaagaa	7	5	16	13	5	0	2	0	1	0	1	1	3	0	2	3	4	2	3	3	4	2	0	rs143788130		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:120763812C>T	ENST00000308366.4	-	2	81	c.46G>A	c.(46-48)Gac>Aac	p.D16N	PLA2G1B_ENST00000423423.3_Missense_Mutation_p.D16N|PLA2G1B_ENST00000549767.1_5'UTR	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	16			D -> A (in dbSNP:rs5632).		actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGCCGCTGTCGGCGGCGGCC	0.617											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	173					0	0	0	0	T	120763812	C	T	120763812	3	4	328	1	0	0	0	0	1	0	0	0	12066	884	31	1	412	1	PLA2G1B	12	120763812	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	13423	120763812	13088083	1696	59910											
KNTC1	9735	broad.mit.edu	37	chr12	123019327	123019327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacttcaattgcatcttgtCtttggtaagtataatgtagt	10	18	7	6	0	4	0	2	0	2	0	4	0	4	0	0	1	1	4	0	1	5	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123019327C>T	ENST00000333479.7	+	3	423	c.246C>T	c.(244-246)gtC>gtT	p.V82V	KNTC1_ENST00000450485.2_Silent_p.V82V	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	82					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGCATCTTGTCTTTGGTAAGT	0.363													12	22					0	0	0	0	T	123019327	C	T	123019327	2	4	328	1	0	0	0	0	0	0	0	1	8480	900	32	2		2	KNTC1	12	123019327	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2255515	123019327	10832568	1697	59911											
KNTC1	9735	broad.mit.edu	37	chr12	123089936	123089936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgttgttggaaaaatggCtatgcccttcaacaaaacct	14	11	7	9	0	1	0	1	0	0	0	1	1	1	1	2	2	3	3	2	2	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123089936C>T	ENST00000333479.7	+	51	5647	c.5470C>T	c.(5470-5472)Cta>Tta	p.L1824L	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Silent_p.L249L|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1824					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GGAAAAATGGCTATGCCCTTC	0.363													8	9					0	0	0	0	T	123089936	C	T	123089936	2	4	328	1	0	0	0	0	0	0	0	1	8480	796	28	4		4	KNTC1	12	123089936	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	70609	123089936	10761959	1698	59912											
PITPNM2	57605	broad.mit.edu	37	chr12	123481402	123481402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagggggagggcagccagggGaatgtggtcctgactgctgg	7	6	20	8	0	0	1	0	1	0	0	1	3	1	3	2	7	2	2	2	7	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123481402G>A	ENST00000280562.5	-	11	1733	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	PITPNM2_ENST00000320201.4_Missense_Mutation_p.P510S|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P231S|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P510S			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	510					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCAGCCAGGGGAATGTGGTCC	0.637													25	58					0	0	0	0	A	123481402	G	A	123481402	3	1	328	1	0	0	0	0	1	0	0	0	12023	1174	41	2	2581	2	PITPNM2	12	123481402	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	391466	123481402	10370493	1699	59913											
PITPNM2	57605	broad.mit.edu	37	chr12	123482103	123482103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagggcggtgcagccagcGgctggctaacctcgtcctgc	5	7	16	13	3	0	0	0	0	0	0	2	1	1	1	3	5	5	3	3	5	1	1	rs143163958		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123482103G>A	ENST00000280562.5	-	10	1446	c.1241C>T	c.(1240-1242)cCg>cTg	p.P414L	PITPNM2_ENST00000320201.4_Missense_Mutation_p.P414L|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P135L|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P414L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	414					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGCAGCCAGCGGCTGGCTAAC	0.662													50	130					0	0	0	0	A	123482103	G	A	123482103	3	1	328	1	0	0	0	0	1	0	0	0	12023	1116	39	1	2872	1	PITPNM2	12	123482103	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	701	123482103	10369792	1700	59914											
TCTN2	79867	broad.mit.edu	37	chr12	124156103	124156103	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccctgcggtcagcgcgtcCctggtcggagacaccgaggg	5	5	17	14	5	1	1	1	0	0	1	3	3	2	1	3	5	2	0	3	5	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:124156103C>T	ENST00000303372.5	+	2	260	c.132C>T	c.(130-132)tcC>tcT	p.S44S	TCTN2_ENST00000426174.2_Silent_p.S44S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	44					cilium assembly|smoothened signaling pathway	integral to membrane		p.S44S(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TCAGCGCGTCCCTGGTCGGAG	0.622													23	57					0	0	0	0	T	124156103	C	T	124156103	2	4	328	1	0	0	0	0	0	0	0	1	15817	610	22	4		4	TCTN2	12	124156103	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	674000	124156103	9695792	1701	59915											
NCOR2	9612	broad.mit.edu	37	chr12	124817682	124817682	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacagaagtacctgggcTccgtctgttccccatcccgg	6	8	10	17	2	1	1	0	0	1	1	4	1	4	1	6	2	1	3	6	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:124817682T>C	ENST00000356219.3	-	43	6925	c.6770A>G	c.(6769-6771)gAg>gGg	p.E2257G	NCOR2_ENST00000404621.1_Missense_Mutation_p.E2240G|NCOR2_ENST00000404121.2_Missense_Mutation_p.E1811G|NCOR2_ENST00000397355.1_Missense_Mutation_p.E2241G|NCOR2_ENST00000429285.2_Missense_Mutation_p.E2240G|NCOR2_ENST00000405201.1_Missense_Mutation_p.E2250G	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2261					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTACCTGGGCTCCGTCTGTTC	0.642													16	61					0	0	0	0	C	124817682	T	C	124817682	3	2	328	1	0	0	0	0	1	0	0	0	10306	1551	54	5	819	5	NCOR2	12	124817682	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	661579	124817682	9034213	1702	59916											
NCOR2	9612	broad.mit.edu	37	chr12	124824683	124824683	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgagtgctggtgggcatgGgagtgggaggcggggcggct	4	6	25	6	3	0	0	0	0	0	0	0	3	0	2	0	9	1	3	0	9	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:124824683G>A	ENST00000356219.3	-	38	5732	c.5577C>T	c.(5575-5577)tcC>tcT	p.S1859S	NCOR2_ENST00000404621.1_Silent_p.S1842S|NCOR2_ENST00000404121.2_Silent_p.S1413S|NCOR2_ENST00000397355.1_Silent_p.S1843S|NCOR2_ENST00000429285.2_Silent_p.S1842S|NCOR2_ENST00000405201.1_Silent_p.S1852S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1863					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTGGGCATGGGAGTGGGAGG	0.667													34	26					0	0	0	0	A	124824683	G	A	124824683	2	1	328	1	0	0	0	0	0	0	0	1	10306	1219	43	4		4	NCOR2	12	124824683	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7001	124824683	9027212	1703	59917											
NCOR2	9612	broad.mit.edu	37	chr12	124824853	124824853	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctaccaggtctccagatGggtgcgtgctccaccgtcgt	5	9	12	15	3	1	1	0	0	1	1	4	1	2	1	5	2	3	1	5	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:124824853G>A	ENST00000356219.3	-	37	5651	c.5496C>T	c.(5494-5496)ccC>ccT	p.P1832P	NCOR2_ENST00000404621.1_Silent_p.P1815P|NCOR2_ENST00000404121.2_Silent_p.P1386P|NCOR2_ENST00000397355.1_Silent_p.P1816P|NCOR2_ENST00000429285.2_Silent_p.P1815P|NCOR2_ENST00000405201.1_Silent_p.P1825P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1833					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCTCCAGATGGGTGCGTGCT	0.682													14	28					0	0	0	0	A	124824853	G	A	124824853	2	1	328	1	0	0	0	0	0	0	0	1	10306	1335	47	4		4	NCOR2	12	124824853	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	170	124824853	9027042	1704	59918											
NCOR2	9612	broad.mit.edu	37	chr12	124824864	124824864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctccagatgggtgcgtgctCcaccgtcgtggtggacgtga	5	10	15	11	4	1	2	0	1	1	1	4	3	2	3	3	3	2	1	3	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:124824864C>T	ENST00000356219.3	-	37	5640	c.5485G>A	c.(5485-5487)Gag>Aag	p.E1829K	NCOR2_ENST00000404621.1_Missense_Mutation_p.E1812K|NCOR2_ENST00000404121.2_Missense_Mutation_p.E1383K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E1813K|NCOR2_ENST00000429285.2_Missense_Mutation_p.E1812K|NCOR2_ENST00000405201.1_Missense_Mutation_p.E1822K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1830					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTGCGTGCTCCACCGTCGTG	0.682													18	30					0	0	0	0	T	124824864	C	T	124824864	3	4	328	1	0	0	0	0	1	0	0	0	10306	864	30	2	2128	2	NCOR2	12	124824864	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	11	124824864	9027031	1705	59919											
DHX37	57647	broad.mit.edu	37	chr12	125435018	125435018	+	Missense_Mutation	SNP	G	G	A																															cggggcagtatgtaggggctGgttcctccaggggcttgtca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125435018G>A	ENST00000308736.2	-	23	3160	c.3062C>T	c.(3061-3063)cCa>cTa	p.P1021L	DHX37_ENST00000544745.1_Missense_Mutation_p.P808L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1021							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGTAGGGGCTGGTTCCTCCAG	0.667													10	43					0	0	0	0	A	125435018	G	A	125435018	3	1	328	1	0	0	0	0	1	0	0	0	4547	1348	47	4	431	4	DHX37	12	125435018	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	610154	125435018	8416877	1706	59920	632	2									
DHX37	57647	broad.mit.edu	37	chr12	125435019	125435019	+	Missense_Mutation	SNP	G	G	A																															ggggcagtatgtaggggctgGttcctccaggggcttgtcaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125435019G>A	ENST00000308736.2	-	23	3159	c.3061C>T	c.(3061-3063)Cca>Tca	p.P1021S	DHX37_ENST00000544745.1_Missense_Mutation_p.P808S	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1021							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GTAGGGGCTGGTTCCTCCAGG	0.672													10	44					0	0	0	0	A	125435019	G	A	125435019	3	1	328	1	0	0	0	0	1	0	0	0	4547	1261	44	4	432	4	DHX37	12	125435019	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	125435019	8416876	1707	59921	632	2									
BRI3BP	140707	broad.mit.edu	37	chr12	125509700	125509700	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcggccgcttcttctggatCgtgcgggtcgtcctgttttc	1	16	12	12	5	2	0	0	0	2	0	7	1	3	1	2	3	1	2	2	3	0	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125509700C>T	ENST00000341446.8	+	3	571	c.480C>T	c.(478-480)atC>atT	p.I160I		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	160						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TCTTCTGGATCGTGCGGGTCG	0.627													17	88					0	0	0	0	T	125509700	C	T	125509700	2	4	328	1	0	0	0	0	0	0	0	1	1521	874	31	1		1	BRI3BP	12	125509700	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	74681	125509700	8342195	1708	59922											
AACS	65985	broad.mit.edu	37	chr12	125587578	125587578	+	Missense_Mutation	SNP	C	C	T																															tgaagaaagtggtggtgattCcttatgtgtcctccagagag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125587578C>T	ENST00000316519.6	+	7	924	c.718C>T	c.(718-720)Cct>Tct	p.P240S	AACS_ENST00000261686.6_Missense_Mutation_p.P240S	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	240					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGTGGTGATTCCTTATGTGTC	0.473													49	203					0	0	0	0	T	125587578	C	T	125587578	3	4	328	1	0	0	0	0	1	0	0	0	9	855	30	2	744	2	AACS	12	125587578	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	77878	125587578	8264317	1709	59923	633	2									
AACS	65985	broad.mit.edu	37	chr12	125587579	125587579	+	Missense_Mutation	SNP	C	C	T																															gaagaaagtggtggtgattcCttatgtgtcctccagagaga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125587579C>T	ENST00000316519.6	+	7	925	c.719C>T	c.(718-720)cCt>cTt	p.P240L	AACS_ENST00000261686.6_Missense_Mutation_p.P240L	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	240					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GTGGTGATTCCTTATGTGTCC	0.468													47	200					0	0	0	0	T	125587579	C	T	125587579	3	4	328	1	0	0	0	0	1	0	0	0	9	681	24	4	745	4	AACS	12	125587579	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	125587579	8264316	1710	59924	633	2									
TMEM132B	114795	broad.mit.edu	37	chr12	125811183	125811183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggaaatgtttggtgcagCatccagaatggacaccactg	12	8	12	9	1	0	1	0	0	0	1	1	3	1	3	2	3	2	3	2	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125811183C>A	ENST00000299308.3	+	1	22	c.14C>A	c.(13-15)gCa>gAa	p.A5E	TMEM132B_ENST00000418253.2_Intron	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	5						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTTGGTGCAGCATCCAGAATG	0.582													8	15					0.000274275	0.000275016	1	0	A	125811183	C	A	125811183	3	1	328	1	0	0	0	0	1	0	0	0	16140	710	25	4	16	4	TMEM132B	12	125811183	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	223604	125811183	8040712	1711	59925											
EP400	57634	broad.mit.edu	37	chr12	132471079	132471079	+	Silent	SNP	C	C	T																															atggtagcatcgacaaggctCcctgtggaccctgccccgcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:132471079C>T	ENST00000333577.4	+	7	2167	c.2058C>T	c.(2056-2058)ctC>ctT	p.L686L	EP400_ENST00000332482.4_Silent_p.L613L|EP400_ENST00000330386.6_Silent_p.L650L|EP400_ENST00000389562.2_Silent_p.L649L|EP400_ENST00000389561.2_Silent_p.L650L			Q96L91	EP400_HUMAN	E1A binding protein p400	686					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGACAAGGCTCCCTGTGGACC	0.652													38	95					0	0	0	0	T	132471079	C	T	132471079	2	4	328	1	0	0	0	0	0	0	0	1	5187	842	30	2		2	EP400	12	132471079	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6659896	132471079	1380816	1712	59926	634	2									
EP400	57634	broad.mit.edu	37	chr12	132471080	132471080	+	Missense_Mutation	SNP	C	C	T																															tggtagcatcgacaaggctcCctgtggaccctgccccgccc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:132471080C>T	ENST00000333577.4	+	7	2168	c.2059C>T	c.(2059-2061)Cct>Tct	p.P687S	EP400_ENST00000332482.4_Missense_Mutation_p.P614S|EP400_ENST00000330386.6_Missense_Mutation_p.P651S|EP400_ENST00000389562.2_Missense_Mutation_p.P650S|EP400_ENST00000389561.2_Missense_Mutation_p.P651S			Q96L91	EP400_HUMAN	E1A binding protein p400	687					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GACAAGGCTCCCTGTGGACCC	0.657													39	95					0	0	0	0	T	132471080	C	T	132471080	3	4	328	1	0	0	0	0	1	0	0	0	5187	623	22	4	1966	4	EP400	12	132471080	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	132471080	1380815	1713	59927	634	2									
EP400	57634	broad.mit.edu	37	chr12	132514262	132514262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagggtggcctttgtgattCctccggtggtggcagcaccc	4	11	14	12	1	1	1	1	1	0	0	3	1	3	1	4	5	1	2	4	5	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:132514262C>T	ENST00000333577.4	+	29	5615	c.5506C>T	c.(5506-5508)Cct>Tct	p.P1836S	EP400_ENST00000332482.4_Missense_Mutation_p.P1763S|EP400_ENST00000330386.6_Missense_Mutation_p.P1719S|EP400_ENST00000389562.2_Missense_Mutation_p.P1799S|EP400_ENST00000389561.2_Missense_Mutation_p.P1800S			Q96L91	EP400_HUMAN	E1A binding protein p400	1836					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTTTGTGATTCCTCCGGTGGT	0.627													26	82					0	0	0	0	T	132514262	C	T	132514262	3	4	328	1	0	0	0	0	1	0	0	0	5187	855	30	2	5501	2	EP400	12	132514262	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	43182	132514262	1337633	1714	59928											
EP400	57634	broad.mit.edu	37	chr12	132549425	132549425	+	Silent	SNP	C	C	T																															gtggccaacctccaggtggcCcggctcgtaagtgtcagttt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:132549425C>T	ENST00000333577.4	+	49	8764	c.8655C>T	c.(8653-8655)gcC>gcT	p.A2885A	EP400_ENST00000332482.4_Silent_p.A2812A|EP400_ENST00000330386.6_Silent_p.A2768A|EP400_ENST00000389562.2_Silent_p.A2848A|EP400_ENST00000389561.2_Silent_p.A2849A			Q96L91	EP400_HUMAN	E1A binding protein p400	2885					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCAGGTGGCCCGGCTCGTAA	0.592													6	18					0	0	0	0	T	132549425	C	T	132549425	2	4	328	1	0	0	0	0	0	0	0	1	5187	610	22	4		4	EP400	12	132549425	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	35163	132549425	1302470	1715	59929	635	2									
EP400	57634	broad.mit.edu	37	chr12	132549426	132549426	+	Missense_Mutation	SNP	C	C	T																															tggccaacctccaggtggccCggctcgtaagtgtcagtttc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:132549426C>T	ENST00000333577.4	+	49	8765	c.8656C>T	c.(8656-8658)Cgg>Tgg	p.R2886W	EP400_ENST00000332482.4_Missense_Mutation_p.R2813W|EP400_ENST00000330386.6_Missense_Mutation_p.R2769W|EP400_ENST00000389562.2_Missense_Mutation_p.R2849W|EP400_ENST00000389561.2_Missense_Mutation_p.R2850W			Q96L91	EP400_HUMAN	E1A binding protein p400	2886					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAGGTGGCCCGGCTCGTAAG	0.592													6	18					0	0	0	0	T	132549426	C	T	132549426	3	4	328	1	0	0	0	0	1	0	0	0	5187	643	23	1	8731	1	EP400	12	132549426	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	132549426	1302469	1716	59930	635	2									
GOLGA3	2802	broad.mit.edu	37	chr12	133393162	133393162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataggaagactgagtctgaGagactgcaaagcttcttttc	12	11	10	8	0	2	4	0	2	2	2	3	6	2	5	0	1	2	2	0	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:133393162G>A	ENST00000204726.3	-	3	928	c.370C>T	c.(370-372)Ctc>Ttc	p.L124F	GOLGA3_ENST00000537452.1_Missense_Mutation_p.L124F|GOLGA3_ENST00000450791.2_Missense_Mutation_p.L124F|GOLGA3_ENST00000545875.1_Missense_Mutation_p.L124F|GOLGA3_ENST00000456883.2_Missense_Mutation_p.L124F	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	124	Interaction with GOPC.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTGAGTCTGAGAGACTGCAAA	0.542													60	47					0	0	0	0	A	133393162	G	A	133393162	3	1	328	1	0	0	0	0	1	0	0	0	6605	942	33	2	4352	2	GOLGA3	12	133393162	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	843736	133393162	458733	1717	59931											
ZNF268	10795	broad.mit.edu	37	chr12	133779348	133779348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aattcacacaggtgagaatcCctatgagtgctgtgaatgtg	12	11	11	7	0	1	3	1	3	0	1	2	4	2	3	1	1	1	1	1	1	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:133779348C>T	ENST00000536435.2	+	6	1406	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	ZNF268_ENST00000228289.5_Missense_Mutation_p.P359L|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.P198L	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	359						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GGTGAGAATCCCTATGAGTGC	0.403													10	9					0	0	0	0	T	133779348	C	T	133779348	3	4	328	1	0	0	0	0	1	0	0	0	17902	623	22	4		4	ZNF268	12	133779348	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	386186	133779348	72547	1718	59932											
TUBA3C	7278	broad.mit.edu	37	chr13	19751273	19751273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagccacggacagctgctCgtggtaggccttctcggctg	5	9	13	14	3	2	0	1	0	1	0	4	1	2	1	2	4	3	4	2	4	1	2	rs146654670		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:19751273C>T	ENST00000400113.3	-	4	954	c.850G>A	c.(850-852)Gag>Aag	p.E284K		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	284					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.E284K(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GACAGCTGCTCGTGGTAGGCC	0.607													46	89					0	0	0	0	T	19751273	C	T	19751273	3	4	328	1	0	0	0	0	1	0	0	0	16842	893	31	1	510	1	TUBA3C	13	19751273	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08		19751273	95418605	1719	59933											
ZMYM5	9205	broad.mit.edu	37	chr13	20425891	20425891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggttttgtttttagttccagGaagtccccattcgataaaac	10	15	8	8	1	0	0	0	0	0	0	3	2	2	1	3	2	1	3	3	2	4	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:20425891G>A	ENST00000337963.4	-	3	694	c.430C>T	c.(430-432)Cct>Tct	p.P144S	ZMYM5_ENST00000382905.4_Missense_Mutation_p.P144S|ZMYM5_ENST00000382907.4_Missense_Mutation_p.P144S	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	144						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTAGTTCCAGGAAGTCCCCAT	0.373													32	61					0	0	0	0	A	20425891	G	A	20425891	3	1	328	1	0	0	0	0	1	0	0	0	17798	1174	41	2	1714	2	ZMYM5	13	20425891	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	674618	20425891	94743987	1720	59934											
LATS2	26524	broad.mit.edu	37	chr13	21565462	21565462	+	Silent	SNP	G	G	A																															ctgctcattcctcgggtccaGgtagcccatcttgctgatgt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:21565462G>A	ENST00000382592.4	-	3	829	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	LATS2_ENST00000542899.1_Silent_p.L142L|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	142					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCGGGTCCAGGTAGCCCATC	0.582													21	45					0	0	0	0	A	21565462	G	A	21565462	2	1	328	1	0	0	0	0	0	0	0	1	8700	991	35	4		4	LATS2	13	21565462	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1139571	21565462	93604416	1721	59935	636	2									
LATS2	26524	broad.mit.edu	37	chr13	21565463	21565463	+	Silent	SNP	G	G	A																															tgctcattcctcgggtccagGtagcccatcttgctgatgta																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:21565463G>A	ENST00000382592.4	-	3	828	c.423C>T	c.(421-423)taC>taT	p.Y141Y	LATS2_ENST00000542899.1_Silent_p.Y141Y|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	141					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TCGGGTCCAGGTAGCCCATCT	0.582													21	44					0	0	0	0	A	21565463	G	A	21565463	2	1	328	1	0	0	0	0	0	0	0	1	8700	1256	44	4		4	LATS2	13	21565463	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	21565463	93604415	1722	59936	636	2									
C1QTNF9B	387911	broad.mit.edu	37	chr13	24466137	24466137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccccttggggccatgttttCctggggatcctcttgagcct	3	13	12	13	0	1	1	0	1	1	0	3	2	3	2	6	4	1	1	6	4	0	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:24466137C>T	ENST00000382137.3	-	3	361	c.293G>A	c.(292-294)gGa>gAa	p.G98E	C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G98E|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000556521.1_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	98	Collagen-like 2.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GCCATGTTTTCCTGGGGATCC	0.517													26	87					0	0	0	0	T	24466137	C	T	24466137	3	4	328	1	0	0	0	0	1	0	0	0	1990	855	30	2	711	2	C1QTNF9B	13	24466137	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2900674	24466137	90703741	1723	59937											
PARP4	143	broad.mit.edu	37	chr13	25064876	25064876	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctgttcaacatgctcaaTtttgcacctcaaagctcggt	10	14	6	11	1	4	0	3	0	1	0	5	0	4	0	1	1	4	4	1	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:25064876T>C	ENST00000381989.3	-	10	1249	c.1144A>G	c.(1144-1146)Att>Gtt	p.I382V		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	382	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ACATGCTCAATTTTGCACCTC	0.408													31	52					0	0	0	0	C	25064876	T	C	25064876	3	2	328	1	0	0	0	0	1	0	0	0	11534	1493	52	5	4130	5	PARP4	13	25064876	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	598739	25064876	90105002	1724	59938											
FLT1	2321	broad.mit.edu	37	chr13	29001405	29001405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgctgcccagtgggtagaGagccgggtctggaaacgatg	8	8	16	9	2	2	1	0	0	2	1	2	4	2	2	2	3	4	2	2	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:29001405G>A	ENST00000282397.4	-	10	1578	c.1327C>T	c.(1327-1329)Ctc>Ttc	p.L443F	FLT1_ENST00000539099.1_Missense_Mutation_p.L443F|FLT1_ENST00000541932.1_Missense_Mutation_p.L443F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	443	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGTGGGTAGAGAGCCGGGTCT	0.488													30	49					0	0	0	0	A	29001405	G	A	29001405	3	1	328	1	0	0	0	0	1	0	0	0	5986	942	33	2	3036	2	FLT1	13	29001405	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3936529	29001405	86168473	1725	59939											
MTUS2	23281	broad.mit.edu	37	chr13	29599806	29599806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggagagttgaacaggaggGaaaggcagcccaggaagggt	14	3	18	6	0	0	2	0	1	0	1	0	6	0	5	1	6	2	2	1	6	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:29599806G>A	ENST00000431530.3	+	1	1059	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	324						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAACAGGAGGGAAAGGCAGCC	0.532													19	31					0	0	0	0	A	29599806	G	A	29599806	3	1	328	1	0	0	0	0	1	0	0	0	10036	1174	41	2	1003	2	MTUS2	13	29599806	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	598401	29599806	85570072	1726	59940											
MTUS2	23281	broad.mit.edu	37	chr13	29898813	29898813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgtttcatctcctaagaGagtagcagcttcaaccacca	11	11	7	12	0	3	1	2	0	1	1	4	2	3	1	3	0	4	5	3	0	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:29898813G>A	ENST00000431530.3	+	5	2958	c.2900G>A	c.(2899-2901)aGa>aAa	p.R967K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	957	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTCCTAAGAGAGTAGCAGCT	0.373													3	5					0	0	0	0	A	29898813	G	A	29898813	3	1	328	1	0	0	0	0	1	0	0	0	10036	942	33	2	2918	2	MTUS2	13	29898813	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	299007	29898813	85271065	1727	59941											
SLC7A1	6541	broad.mit.edu	37	chr13	30098369	30098369	+	Silent	SNP	G	G	A																															ggcatgaatccaccaacaccGggcttcccttcttttgtgtc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:30098369G>A	ENST00000380752.5	-	6	1112	c.726C>T	c.(724-726)ccC>ccT	p.P242P		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	242					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CACCAACACCGGGCTTCCCTT	0.547													17	24					0	0	0	0	A	30098369	G	A	30098369	2	1	328	1	0	0	0	0	0	0	0	1	14780	1103	39	1		1	SLC7A1	13	30098369	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	199556	30098369	85071509	1728	59942	637	2									
SLC7A1	6541	broad.mit.edu	37	chr13	30098370	30098370	+	Missense_Mutation	SNP	G	G	A																															gcatgaatccaccaacaccgGgcttcccttcttttgtgtca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:30098370G>A	ENST00000380752.5	-	6	1111	c.725C>T	c.(724-726)cCc>cTc	p.P242L		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	242					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACCAACACCGGGCTTCCCTTC	0.542													15	24					0	0	0	0	A	30098370	G	A	30098370	3	1	328	1	0	0	0	0	1	0	0	0	14780	1232	43	4	1196	4	SLC7A1	13	30098370	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	30098370	85071508	1729	59943	637	2									
RXFP2	122042	broad.mit.edu	37	chr13	32366042	32366042	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgaggacctcttggctaaCaatatcctcagaatatttgt	11	15	7	8	0	2	2	1	1	1	1	3	3	3	3	2	2	1	1	2	2	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:32366042C>G	ENST00000298386.2	+	15	1316	c.1245C>G	c.(1243-1245)aaC>aaG	p.N415K	RXFP2_ENST00000380314.1_Missense_Mutation_p.N391K	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	415						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCTTGGCTAACAATATCCTCA	0.383													33	51					0	0	0	0	G	32366042	C	G	32366042	3	3	328	1	0	0	0	0	1	0	0	0	13845	477	17	4	1303	4	RXFP2	13	32366042	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2267672	32366042	82803836	1730	59944											
RXFP2	122042	broad.mit.edu	37	chr13	32367008	32367008	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttggagaagttcctggtCattgtcttccccttcagtaa	8	15	8	10	0	3	1	2	0	1	1	5	2	5	1	3	2	0	2	3	2	2	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:32367008C>T	ENST00000298386.2	+	16	1640	c.1569C>T	c.(1567-1569)gtC>gtT	p.V523V	RXFP2_ENST00000380314.1_Silent_p.V499V	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	523						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AGTTCCTGGTCATTGTCTTCC	0.502													19	24					0	0	0	0	T	32367008	C	T	32367008	2	4	328	1	0	0	0	0	0	0	0	1	13845	813	29	2		2	RXFP2	13	32367008	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	966	32367008	82802870	1731	59945											
PDS5B	23047	broad.mit.edu	37	chr13	33315221	33315221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctcgtttatttttagcttCcagggaaaaagacaactaaa	14	14	6	7	1	1	1	0	0	1	1	3	2	2	2	1	1	2	2	1	1	7	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:33315221C>T	ENST00000315596.10	+	22	2596	c.2410C>T	c.(2410-2412)Cca>Tca	p.P804S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	804					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTTTTAGCTTCCAGGGAAAAA	0.303													24	50					0	0	0	0	T	33315221	C	T	33315221	3	4	328	1	0	0	0	0	1	0	0	0	11763	855	30	2	2492	2	PDS5B	13	33315221	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	948213	33315221	81854657	1732	59946											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37679102	37679102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagaaattaaagaggtcttCgaggctgggtcccagaaggt	13	8	13	7	1	1	3	0	0	1	3	3	4	2	3	1	4	0	1	1	4	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:37679102C>T	ENST00000379800.3	-	1	701	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	98	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AAGAGGTCTTCGAGGCTGGGT	0.453													33	53					0	0	0	0	T	37679102	C	T	37679102	3	4	328	1	0	0	0	0	1	0	0	0	3983	893	31	1	725	1	CSNK1A1L	13	37679102	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4363881	37679102	77490776	1733	59947											
FREM2	341640	broad.mit.edu	37	chr13	39263623	39263623	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcgtatggtggtacaGgaatcccagctcacaccact	9	9	8	15	1	1	0	1	0	0	0	3	1	2	1	4	3	2	3	4	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:39263623G>A	ENST00000280481.7	+	1	2358	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	714					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGTGGTACAGGAATCCCAGC	0.567													15	27					0	0	0	0	A	39263623	G	A	39263623	2	1	328	1	0	0	0	0	0	0	0	1	6093	991	35	4		4	FREM2	13	39263623	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1584521	39263623	75906255	1734	59948											
FREM2	341640	broad.mit.edu	37	chr13	39266048	39266048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgtctttcggacattcCgtatctccattagcgatgtg	7	14	8	12	3	2	0	0	0	2	0	5	2	3	1	3	1	1	1	3	1	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:39266048C>T	ENST00000280481.7	+	1	4783	c.4567C>T	c.(4567-4569)Cgt>Tgt	p.R1523C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1523					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCGGACATTCCGTATCTCCAT	0.423													52	69					0	0	0	0	T	39266048	C	T	39266048	3	4	328	1	0	0	0	0	1	0	0	0	6093	652	23	1	4569	1	FREM2	13	39266048	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2425	39266048	75903830	1735	59949											
KBTBD6	89890	broad.mit.edu	37	chr13	41705881	41705881	+	Missense_Mutation	SNP	G	G	A																															tgaagacttctgcagcactgGgaccccgctctttgggagca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:41705881G>A	ENST00000379485.1	-	1	1001	c.767C>T	c.(766-768)cCc>cTc	p.P256L	KBTBD6_ENST00000499385.2_Missense_Mutation_p.P190L	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	256							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TGCAGCACTGGGACCCCGCTC	0.572													27	56					0	0	0	0	A	41705881	G	A	41705881	3	1	328	1	0	0	0	0	1	0	0	0	8050	1232	43	4	1261	4	KBTBD6	13	41705881	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2439833	41705881	73463997	1736	59950	638	2									
KBTBD6	89890	broad.mit.edu	37	chr13	41705882	41705882	+	Missense_Mutation	SNP	G	G	A																															gaagacttctgcagcactggGaccccgctctttgggagcag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:41705882G>A	ENST00000379485.1	-	1	1000	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	KBTBD6_ENST00000499385.2_Missense_Mutation_p.P190S	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	256							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GCAGCACTGGGACCCCGCTCT	0.572													26	57					0	0	0	0	A	41705882	G	A	41705882	3	1	328	1	0	0	0	0	1	0	0	0	8050	1174	41	2	1262	2	KBTBD6	13	41705882	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	41705882	73463996	1737	59951	638	2									
RCBTB1	55213	broad.mit.edu	37	chr13	50123614	50123614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacagacaggaggcgccacGagacggcgggagtggcaaag	12	1	17	11	4	0	2	0	0	0	2	0	5	0	4	2	5	0	1	2	5	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:50123614G>A	ENST00000378302.2	-	9	1285	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L	RCBTB1_ENST00000258646.3_Missense_Mutation_p.S342L|RCBTB1_ENST00000546015.1_Missense_Mutation_p.S342L	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	342					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GAGGCGCCACGAGACGGCGGG	0.592													16	11					0	0	0	0	A	50123614	G	A	50123614	3	1	328	1	0	0	0	0	1	0	0	0	13253	1059	37	1	590	1	RCBTB1	13	50123614	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	8417732	50123614	65046264	1738	59952											
UTP14C	9724	broad.mit.edu	37	chr13	52603485	52603485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggctggaaggcaagaactcCcctggagcaggaaattttta	12	9	12	8	0	0	1	0	0	0	1	1	4	1	4	2	5	2	3	2	5	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:52603485C>T	ENST00000521776.2	+	2	1278	c.545C>T	c.(544-546)cCc>cTc	p.P182L	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	182					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GCAAGAACTCCCCTGGAGCAG	0.532													28	38					0	0	0	0	T	52603485	C	T	52603485	3	4	328	1	0	0	0	0	1	0	0	0	17192	623	22	4	547	4	UTP14C	13	52603485	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2479871	52603485	62566393	1739	59953											
PCDH9	5101	broad.mit.edu	37	chr13	67799718	67799718	+	Missense_Mutation	SNP	G	G	A																															tcacggaaactggagtgtctGgtttgagatgaaaagcaggc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:67799718G>A	ENST00000544246.1	-	2	3546	c.2855C>T	c.(2854-2856)cCa>cTa	p.P952L	PCDH9_ENST00000328454.5_Missense_Mutation_p.P952L|PCDH9_ENST00000456367.1_Missense_Mutation_p.P952L|PCDH9_ENST00000377861.3_Missense_Mutation_p.P952L|PCDH9_ENST00000377865.2_Missense_Mutation_p.P952L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	952					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGGAGTGTCTGGTTTGAGATG	0.512													37	70					0	0	0	0	A	67799718	G	A	67799718	3	1	328	1	0	0	0	0	1	0	0	0	11589	1348	47	4	874	4	PCDH9	13	67799718	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	15196233	67799718	47370160	1740	59954	639	2									
PCDH9	5101	broad.mit.edu	37	chr13	67799719	67799719	+	Missense_Mutation	SNP	G	G	A																															cacggaaactggagtgtctgGtttgagatgaaaagcaggct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:67799719G>A	ENST00000544246.1	-	2	3545	c.2854C>T	c.(2854-2856)Cca>Tca	p.P952S	PCDH9_ENST00000328454.5_Missense_Mutation_p.P952S|PCDH9_ENST00000456367.1_Missense_Mutation_p.P952S|PCDH9_ENST00000377861.3_Missense_Mutation_p.P952S|PCDH9_ENST00000377865.2_Missense_Mutation_p.P952S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	952					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGTGTCTGGTTTGAGATGA	0.507													37	71					0	0	0	0	A	67799719	G	A	67799719	3	1	328	1	0	0	0	0	1	0	0	0	11589	1261	44	4	875	4	PCDH9	13	67799719	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	67799719	47370159	1741	59955	639	2									
PCDH9	5101	broad.mit.edu	37	chr13	67800481	67800481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccactgcaaaaacttctgCtaccacggagccaggaatgg	13	7	9	12	1	1	0	0	0	1	0	2	2	2	2	3	3	5	2	3	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:67800481C>T	ENST00000544246.1	-	2	2783	c.2092G>A	c.(2092-2094)Gca>Aca	p.A698T	PCDH9_ENST00000328454.5_Missense_Mutation_p.A698T|PCDH9_ENST00000456367.1_Missense_Mutation_p.A698T|PCDH9_ENST00000377861.3_Missense_Mutation_p.A698T|PCDH9_ENST00000377865.2_Missense_Mutation_p.A698T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	698	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAAACTTCTGCTACCACGGAG	0.448													39	59					0	0	0	0	T	67800481	C	T	67800481	3	4	328	1	0	0	0	0	1	0	0	0	11589	797	28	4	1637	4	PCDH9	13	67800481	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	762	67800481	47369397	1742	59956											
PCDH9	5101	broad.mit.edu	37	chr13	67800937	67800937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggggaggggtcccattgtCcctggcagttactgtaaaaa	10	9	14	8	0	0	0	0	0	0	0	2	2	2	1	2	5	1	3	2	5	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:67800937C>T	ENST00000544246.1	-	2	2327	c.1636G>A	c.(1636-1638)Gac>Aac	p.D546N	PCDH9_ENST00000328454.5_Missense_Mutation_p.D546N|PCDH9_ENST00000456367.1_Missense_Mutation_p.D546N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D546N|PCDH9_ENST00000377865.2_Missense_Mutation_p.D546N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	546	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTCCCATTGTCCCTGGCAGTT	0.433													38	64					0	0	0	0	T	67800937	C	T	67800937	3	4	328	1	0	0	0	0	1	0	0	0	11589	855	30	2	2093	2	PCDH9	13	67800937	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	456	67800937	47368941	1743	59957											
DACH1	1602	broad.mit.edu	37	chr13	72256016	72256016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggtgacactttgagtcCtcttaggaggccttccaggt	7	11	14	9	0	1	2	0	2	1	0	3	4	3	4	3	5	0	0	3	5	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:72256016C>T	ENST00000305425.4	-	2	1303	c.881G>A	c.(880-882)aGg>aAg	p.R294K	DACH1_ENST00000359684.2_Missense_Mutation_p.R294K|DACH1_ENST00000313174.7_Missense_Mutation_p.R294K|DACH1_ENST00000354591.4_Missense_Mutation_p.R294K	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	292	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ACTTTGAGTCCTCTTAGGAGG	0.423													28	28					0	0	0	0	T	72256016	C	T	72256016	3	4	328	1	0	0	0	0	1	0	0	0	4253	681	24	4	1285	4	DACH1	13	72256016	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4455079	72256016	42913862	1744	59958											
LMO7	4008	broad.mit.edu	37	chr13	76395330	76395330	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagggaatcccaaaatcaaaAgtctacagttccgtcaagaa	18	7	7	9	1	3	1	2	0	1	1	5	2	5	2	2	1	1	1	2	1	9	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:76395330A>C	ENST00000357063.3	+	15	3641	c.2381A>C	c.(2380-2382)aAg>aCg	p.K794T	LMO7_ENST00000377534.3_Missense_Mutation_p.K794T|LMO7_ENST00000526202.1_Missense_Mutation_p.K359T|LMO7_ENST00000465261.2_Missense_Mutation_p.K509T|LMO7_ENST00000341547.4_Missense_Mutation_p.K460T|LMO7_ENST00000321797.8_Missense_Mutation_p.K509T			Q8WWI1	LMO7_HUMAN	LIM domain 7	794						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAAAATCAAAAGTCTACAGTT	0.448													24	29					0	0	0	0	C	76395330	A	C	76395330	3	2	328	1	0	0	0	0	1	0	0	0	8910	72	3	5	2439	5	LMO7	13	76395330	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	4139314	76395330	38774548	1745	59959											
SLAIN1	122060	broad.mit.edu	37	chr13	78335218	78335218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgggagtaacctgcctcGaagcaaaattgcacaacctg	15	7	9	10	1	0	0	0	0	0	0	1	2	0	1	3	1	5	3	3	1	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:78335218G>A	ENST00000466548.1	+	7	1630	c.1604G>A	c.(1603-1605)cGa>cAa	p.R535Q	SLAIN1_ENST00000267219.8_Missense_Mutation_p.R316Q|SLAIN1_ENST00000488699.1_Missense_Mutation_p.R393Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.R316Q|SLAIN1_ENST00000351546.3_Missense_Mutation_p.R272Q|SLAIN1_ENST00000358679.3_Missense_Mutation_p.R272Q|SLAIN1_ENST00000314070.5_Missense_Mutation_p.R158Q	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	535										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AACCTGCCTCGAAGCAAAATT	0.463													11	28					0	0	0	0	A	78335218	G	A	78335218	3	1	328	1	0	0	0	0	1	0	0	0	14453	1058	37	1	965	1	SLAIN1	13	78335218	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1939888	78335218	36834660	1746	59960											
RBM26	64062	broad.mit.edu	37	chr13	79951531	79951531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctcttccttctttatatCtttttcttggtgtggaaaaa	8	20	5	8	0	4	0	0	0	4	0	5	1	5	1	2	2	1	0	2	2	5	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:79951531C>T	ENST00000438737.2	-	3	750	c.310G>A	c.(310-312)Gat>Aat	p.D104N	RBM26_ENST00000438724.1_Missense_Mutation_p.D104N|RBM26_ENST00000267229.7_Missense_Mutation_p.D104N			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	104					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTCTTTATATCTTTTTCTTGG	0.343													14	25					0	0	0	0	T	79951531	C	T	79951531	3	4	328	1	0	0	0	0	1	0	0	0	13208	913	32	2	2708	2	RBM26	13	79951531	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1616313	79951531	35218347	1747	59961											
SLITRK6	84189	broad.mit.edu	37	chr13	86368629	86368629	+	Missense_Mutation	SNP	C	C	T																															catagagtgaggcagagggtCtttcagtagtgtgatgagtg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:86368629C>T	ENST00000400286.2	-	2	2613	c.2015G>A	c.(2014-2016)aGa>aAa	p.R672K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	672						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGCAGAGGGTCTTTCAGTAGT	0.443													73	130					0	0	0	0	T	86368629	C	T	86368629	3	4	328	1	0	0	0	0	1	0	0	0	14835	913	32	2	514	2	SLITRK6	13	86368629	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6417098	86368629	28801249	1748	59962	640	2									
SLITRK6	84189	broad.mit.edu	37	chr13	86368630	86368630	+	Nonsense_Mutation	SNP	T	T	A																															atagagtgaggcagagggtcTttcagtagtgtgatgagtgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:86368630T>A	ENST00000400286.2	-	2	2612	c.2014A>T	c.(2014-2016)Aga>Tga	p.R672*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	672						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GCAGAGGGTCTTTCAGTAGTG	0.438													73	127					0	0	0	0	A	86368630	T	A	86368630	4	1	328	1	0	0	0	0	0	1	0	0	14835	1617	56	5	515	5	SLITRK6	13	86368630	Nonsense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1	86368630	28801248	1749	59963	640	2									
SLITRK6	84189	broad.mit.edu	37	chr13	86370632	86370632	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgaataaaagagatgaatCcacagcttcatgttgtcatg	15	11	9	6	0	2	3	2	2	0	1	3	5	3	3	1	0	1	2	1	0	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:86370632C>T	ENST00000400286.2	-	2	610	c.12G>A	c.(10-12)tgG>tgA	p.W4*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	4						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGAGATGAATCCACAGCTTCA	0.423													18	34					0	0	0	0	T	86370632	C	T	86370632	4	4	328	1	0	0	0	0	0	1	0	0	14835	856	30	2	2517	2	SLITRK6	13	86370632	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2002	86370632	28799246	1750	59964											
SLITRK5	26050	broad.mit.edu	37	chr13	88327801	88327801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctgtgacaatgcatgtcCttgtgaggaaaaggacggca	13	9	12	7	1	1	2	0	2	1	0	2	4	2	4	1	3	1	2	1	3	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:88327801C>T	ENST00000325089.6	+	2	377	c.158C>T	c.(157-159)cCt>cTt	p.P53L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	53						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AATGCATGTCCTTGTGAGGAA	0.478													38	70					0	0	0	0	T	88327801	C	T	88327801	3	4	328	1	0	0	0	0	1	0	0	0	14834	681	24	4	160	4	SLITRK5	13	88327801	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1957169	88327801	26842077	1751	59965											
GPC6	10082	broad.mit.edu	37	chr13	94938602	94938602	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgttcctgtattttaacaGatgcaatgctcttggtggca	9	15	9	8	0	1	1	0	0	1	1	2	1	2	1	1	2	3	5	1	2	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:94938602G>A	ENST00000377047.4	+	5	1492		c.e5-1			NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6							anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TATTTTAACAGATGCAATGCT	0.418													10	24					0	0	0	0	A	94938602	G	A	94938602	5	1	328	1	0	0	0	0	0	0	1	0	6651	956	33	2	895	2	GPC6	13	94938602	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6610801	94938602	20231276	1752	59966											
ABCC4	10257	broad.mit.edu	37	chr13	95813448	95813448	+	Missense_Mutation	SNP	G	G	A																															tggtgtcagacttacctattGgatttctatcaaagaataat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:95813448G>A	ENST00000376887.4	-	19	2564	c.2450C>T	c.(2449-2451)cCa>cTa	p.P817L	ABCC4_ENST00000536256.1_Missense_Mutation_p.P742L|ABCC4_ENST00000431522.1_Missense_Mutation_p.P817L|ABCC4_ENST00000412704.1_Missense_Mutation_p.P770L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	817	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTTACCTATTGGATTTCTATC	0.348													9	19					0	0	0	0	A	95813448	G	A	95813448	3	1	328	1	0	0	0	0	1	0	0	0	55	1348	47	4	1628	4	ABCC4	13	95813448	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	874846	95813448	19356430	1753	59967	641	2									
ABCC4	10257	broad.mit.edu	37	chr13	95813449	95813449	+	Missense_Mutation	SNP	G	G	A																															ggtgtcagacttacctattgGatttctatcaaagaataata																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:95813449G>A	ENST00000376887.4	-	19	2563	c.2449C>T	c.(2449-2451)Cca>Tca	p.P817S	ABCC4_ENST00000536256.1_Missense_Mutation_p.P742S|ABCC4_ENST00000431522.1_Missense_Mutation_p.P817S|ABCC4_ENST00000412704.1_Missense_Mutation_p.P770S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	817	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTACCTATTGGATTTCTATCA	0.348													9	19					0	0	0	0	A	95813449	G	A	95813449	3	1	328	1	0	0	0	0	1	0	0	0	55	1174	41	2	1629	2	ABCC4	13	95813449	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	95813449	19356429	1754	59968	641	2									
DNAJC3	5611	broad.mit.edu	37	chr13	96416176	96416176	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgaaagatcgagcagaGgcctatttgatagaggaaat	14	8	12	7	1	0	5	0	2	0	3	1	7	0	6	2	2	1	1	2	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:96416176G>A	ENST00000602402.1	+	9	1161	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E	DNAJC3_ENST00000376795.6_Silent_p.E297E	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	348					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATCGAGCAGAGGCCTATTTGA	0.378													37	66					0	0	0	0	A	96416176	G	A	96416176	2	1	328	1	0	0	0	0	0	0	0	1	4683	991	35	4		4	DNAJC3	13	96416176	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	602727	96416176	18753702	1755	59969											
FARP1	10160	broad.mit.edu	37	chr13	98865605	98865605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccgcccccaacaccttcaGgaaaactcgtgtccatcaaa	13	6	6	16	2	2	0	2	0	0	0	4	1	3	1	5	1	3	0	5	1	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:98865605G>A	ENST00000376586.2	+	2	445	c.109G>A	c.(109-111)Gga>Aga	p.G37R	FARP1_ENST00000595437.1_Missense_Mutation_p.G37R|FARP1_ENST00000376581.5_Missense_Mutation_p.G37R|FARP1_ENST00000319562.6_Missense_Mutation_p.G37R			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	37					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AACACCTTCAGGAAAACTCGT	0.542													72	124					0	0	0	0	A	98865605	G	A	98865605	3	1	328	1	0	0	0	0	1	0	0	0	5721	1001	35	4	111	4	FARP1	13	98865605	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2449429	98865605	16304273	1756	59970											
FARP1	10160	broad.mit.edu	37	chr13	99043110	99043110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgactatgttaaagaaggagGacataagaaggtgcagtttg	15	9	13	4	1	0	2	0	0	0	2	0	5	0	4	0	3	1	3	0	3	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:99043110G>A	ENST00000376586.2	+	11	1400	c.1064G>A	c.(1063-1065)gGa>gAa	p.G355E	FARP1_ENST00000595437.1_Missense_Mutation_p.G355E|FARP1_ENST00000319562.6_Missense_Mutation_p.G355E			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	355					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAAGAAGGAGGACATAAGAAG	0.443													34	50					0	0	0	0	A	99043110	G	A	99043110	3	1	328	1	0	0	0	0	1	0	0	0	5721	1174	41	2	1325	2	FARP1	13	99043110	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	177505	99043110	16126768	1757	59971											
FARP1	10160	broad.mit.edu	37	chr13	99064191	99064191	+	Missense_Mutation	SNP	C	C	T																															tgagcaaagaggacgccatgCcggaagcactgaaaagtctc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:99064191C>T	ENST00000376586.2	+	16	2065	c.1729C>T	c.(1729-1731)Ccg>Tcg	p.P577S	FARP1_ENST00000595437.1_Missense_Mutation_p.P577S|FARP1_ENST00000319562.6_Missense_Mutation_p.P577S			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	577	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGACGCCATGCCGGAAGCACT	0.443													47	119					0	0	0	0	T	99064191	C	T	99064191	3	4	328	1	0	0	0	0	1	0	0	0	5721	739	26	4	2010	4	FARP1	13	99064191	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	21081	99064191	16105687	1758	59972	642	2									
FARP1	10160	broad.mit.edu	37	chr13	99064192	99064192	+	Missense_Mutation	SNP	C	C	T																															gagcaaagaggacgccatgcCggaagcactgaaaagtctca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:99064192C>T	ENST00000376586.2	+	16	2066	c.1730C>T	c.(1729-1731)cCg>cTg	p.P577L	FARP1_ENST00000595437.1_Missense_Mutation_p.P577L|FARP1_ENST00000319562.6_Missense_Mutation_p.P577L			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	577	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GACGCCATGCCGGAAGCACTG	0.443													48	119					0	0	0	0	T	99064192	C	T	99064192	3	4	328	1	0	0	0	0	1	0	0	0	5721	652	23	1	2011	1	FARP1	13	99064192	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	99064192	16105686	1759	59973	642	2									
TM9SF2	9375	broad.mit.edu	37	chr13	100181843	100181843	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttattgaattatcaacaTcactggtaaggcatgaatat	15	14	7	5	0	2	2	2	2	0	0	2	2	2	2	0	2	1	3	0	2	7	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:100181843T>A	ENST00000376387.4	+	4	646	c.456T>A	c.(454-456)caT>caA	p.H152Q	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	152					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					ATTATCAACATCACTGGTAAG	0.294													26	53					0	0	0	0	A	100181843	T	A	100181843	3	1	328	1	0	0	0	0	1	0	0	0	16072	1432	50	5	470	5	TM9SF2	13	100181843	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1117651	100181843	14988035	1760	59974											
ZIC5	85416	broad.mit.edu	37	chr13	100622742	100622742	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtcgatccacttgcagatGagctcctgcttgattggctg	6	12	13	10	1	0	3	0	2	0	1	3	4	2	3	2	2	3	4	2	2	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:100622742G>A	ENST00000267294.4	-	1	1421	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	396	Pro-rich.				cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTTGCAGATGAGCTCCTGCT	0.791													3	6					0	0	0	0	A	100622742	G	A	100622742	2	1	328	1	0	0	0	0	0	0	0	1	17777	1277	45	2		2	ZIC5	13	100622742	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	440899	100622742	14547136	1761	59975											
MYO16	23026	broad.mit.edu	37	chr13	109792740	109792740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatatcggggtcccggcccGgggacgcgaggcccgcgggc	5	3	19	14	7	0	1	0	0	0	1	2	3	1	2	3	7	0	0	3	7	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:109792740G>A	ENST00000356711.2	+	32	4240	c.4114G>A	c.(4114-4116)Ggg>Agg	p.G1372R	MYO16_ENST00000357550.2_Missense_Mutation_p.G1372R	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1372					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GTcccggcccggggacgcgag	0.721													15	9					0	0	0	0	A	109792740	G	A	109792740	3	1	328	1	0	0	0	0	1	0	0	0	10134	1116	39	1	4236	1	MYO16	13	109792740	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	9169998	109792740	5377138	1762	59976											
COL4A1	1282	broad.mit.edu	37	chr13	110831733	110831733	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgccgggaagacctggcaaAcctttgagtcccggtagacc	10	7	12	12	2	0	3	0	1	0	2	1	4	1	4	5	3	2	2	5	3	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:110831733A>G	ENST00000375820.4	-	30	2350	c.2229T>C	c.(2227-2229)ggT>ggC	p.G743G		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	743	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GACCTGGCAAACCTTTGAGTC	0.537													30	57					0	0	0	0	G	110831733	A	G	110831733	2	3	328	1	0	0	0	0	0	0	0	1	3719	30	2	5		5	COL4A1	13	110831733	Silent	SNP	A	TCGA-CV-7568-01A-11D-2229-08	1038993	110831733	4338145	1763	59977											
COL4A2	1284	broad.mit.edu	37	chr13	111138077	111138077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaggcccggccacatcaaagGagtcaagggagacatcggag	13	3	15	10	2	2	1	2	0	0	1	3	5	2	3	2	5	0	0	2	5	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:111138077G>A	ENST00000360467.5	+	34	3407	c.3101G>A	c.(3100-3102)gGa>gAa	p.G1034E		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1034	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CACATCAAAGGAGTCAAGGGA	0.612													29	53					0	0	0	0	A	111138077	G	A	111138077	3	1	328	1	0	0	0	0	1	0	0	0	3720	1174	41	2	3231	2	COL4A2	13	111138077	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	306344	111138077	4031801	1764	59978											
CARKD	55739	broad.mit.edu	37	chr13	111290823	111290823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggtcgctccaccaccacctCcgacatgatcgccgaggtgg	7	6	11	17	5	0	1	0	1	0	0	4	3	2	1	6	3	0	1	6	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:111290823C>T	ENST00000458711.2	+	6	611	c.599C>T	c.(598-600)tCc>tTc	p.S200F	CARKD_ENST00000309957.2_Silent_p.L376L|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.S221F			Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	331	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						ACCACCACCTCCGACATGATC	0.637													24	57					0	0	0	0	T	111290823	C	T	111290823	3	4	328	1	0	0	0	0	1	0	0	0	2679	842	30	2	1166	2	CARKD	13	111290823	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	152746	111290823	3879055	1765	59979											
TFDP1	7027	broad.mit.edu	37	chr13	114292093	114292093	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgcgtcttgtgttgtttCtgtttcatgaccattcgctt	3	20	9	9	2	3	1	1	1	2	0	4	1	3	1	1	0	1	4	1	0	0	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:114292093C>G	ENST00000544902.1	+	10	1262	c.880C>G	c.(880-882)Ctg>Gtg	p.L294V	TFDP1_ENST00000538138.1_Intron|TFDP1_ENST00000375370.5_Intron			Q14186	TFDP1_HUMAN	transcription factor Dp-1	358	DCB2.|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TGTGTTGTTTCTGTTTCATGA	0.488										TSP Lung(29;0.18)			14	23					0	0	0	0	G	114292093	C	G	114292093	3	3	328	1	0	0	0	0	1	0	0	0	15891	928	32	2		2	TFDP1	13	114292093	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3001270	114292093	877785	1766	59980											
TFDP1	7027	broad.mit.edu	37	chr13	114294439	114294439	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctgccttgcagtgacCtgaccaacggtgcagatggg	7	8	13	13	1	0	3	0	2	0	1	1	3	1	3	5	2	4	2	5	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:114294439C>T	ENST00000375370.5	+	12	1302	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	TFDP1_ENST00000538138.1_Silent_p.L265L|TFDP1_ENST00000544902.1_Silent_p.L335L	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	364					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTGCAGTGACCTGACCAACGG	0.657										TSP Lung(29;0.18)			38	53					0	0	0	0	T	114294439	C	T	114294439	2	4	328	1	0	0	0	0	0	0	0	1	15891	680	24	4		4	TFDP1	13	114294439	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2346	114294439	875439	1767	59981											
OR4K1	79544	broad.mit.edu	37	chr14	20404104	20404104	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgagcgcaagactatctcCtttgagggttgcatggccca	9	11	11	10	1	1	3	0	2	1	1	2	3	1	3	2	2	2	3	2	2	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:20404104C>T	ENST00000285600.4	+	1	338	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGACTATCTCCTTTGAGGGTT	0.403													36	75					0	0	0	0	T	20404104	C	T	20404104	2	4	328	1	0	0	0	0	0	0	0	1	11138	668	24	4		4	OR4K1	14	20404104	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08		20404104	86945436	1768	59982											
OR4K1	79544	broad.mit.edu	37	chr14	20404411	20404411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcatggatacatatgaaatgGaaattatgaccctaacgaac	17	9	8	7	1	0	2	0	2	0	0	0	5	0	4	1	2	3	1	1	2	7	4	rs149331048		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:20404411G>A	ENST00000285600.4	+	1	645	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATATGAAATGGAAATTATGAC	0.448													37	52					0	0	0	0	A	20404411	G	A	20404411	3	1	328	1	0	0	0	0	1	0	0	0	11138	1175	41	2	588	2	OR4K1	14	20404411	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	307	20404411	86945129	1769	59983											
OR4K15	81127	broad.mit.edu	37	chr14	20444383	20444383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctttctctgagttcctttCtcctcttggttgtctcctac	2	21	5	13	0	5	1	0	1	5	0	9	1	6	1	3	1	1	2	3	1	1	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:20444383C>T	ENST00000305051.5	+	1	781	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L236I(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGTTCCTTTCTCCTCTTGGT	0.463													58	78					0	0	0	0	T	20444383	C	T	20444383	3	4	328	1	0	0	0	0	1	0	0	0	11141	913	32	2	708	2	OR4K15	14	20444383	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	39972	20444383	86905157	1770	59984											
OR11G2	390439	broad.mit.edu	37	chr14	20665863	20665863	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccagcatgctggccaacttCctctctgacaccaagatcat	10	9	6	16	0	2	2	1	1	1	1	4	2	3	2	4	1	3	2	4	1	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:20665863C>T	ENST00000357366.3	+	1	369	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGGCCAACTTCCTCTCTGACA	0.502													14	19					0	0	0	0	T	20665863	C	T	20665863	2	4	328	1	0	0	0	0	0	0	0	1	10996	854	30	2		2	OR11G2	14	20665863	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	221480	20665863	86683677	1771	59985											
OR5AU1	390445	broad.mit.edu	37	chr14	21623849	21623849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggagaggctcttcaggagGgagtacatgggtgtgtgcag	10	8	18	5	0	2	1	1	0	1	1	2	4	2	3	0	5	2	3	0	5	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:21623849G>A	ENST00000304418.3	-	1	373	c.336C>T	c.(334-336)tcC>tcT	p.S112S		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TCTTCAGGAGGGAGTACATGG	0.542													20	31					0	0	0	0	A	21623849	G	A	21623849	2	1	328	1	0	0	0	0	0	0	0	1	11218	1219	43	4		4	OR5AU1	14	21623849	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	957986	21623849	85725691	1772	59986											
OXA1L	5018	broad.mit.edu	37	chr14	23235899	23235899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggcgcaaaagcaagtcctCttccgggcaaaatggcgatg	12	6	12	11	3	1	0	0	0	1	0	3	1	3	0	2	3	1	3	2	3	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23235899C>T	ENST00000285848.5	+	1	169	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	OXA1L_ENST00000604262.1_5'UTR	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGCAAGTCCTCTTCCGGGCAA	0.607													60	100					0	0	0	0	T	23235899	C	T	23235899	3	4	328	1	0	0	0	0	1	0	0	0	11399	913	32	2	171	2	OXA1L	14	23235899	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1612050	23235899	84113641	1773	59987											
OXA1L	5018	broad.mit.edu	37	chr14	23237204	23237204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttgctgcaactccctcacCcacagcagtacctgaggtgg	8	9	10	14	0	1	1	1	1	0	0	2	1	2	1	3	2	5	5	3	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23237204C>T	ENST00000358043.5	+	3	533	c.215C>T	c.(214-216)cCc>cTc	p.P72L	OXA1L_ENST00000412791.1_Missense_Mutation_p.P88L|OXA1L_ENST00000604262.1_Missense_Mutation_p.P88L|OXA1L_ENST00000285848.5_Missense_Mutation_p.P148L			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	88					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		ACTCCCTCACCCACAGCAGTA	0.507													14	28					0	0	0	0	T	23237204	C	T	23237204	3	4	328	1	0	0	0	0	1	0	0	0	11399	623	22	4	453	4	OXA1L	14	23237204	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1305	23237204	84112336	1774	59988											
HOMEZ	57594	broad.mit.edu	37	chr14	23745163	23745163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggaaactaggggcaccaGgtactgcgttgtcccgaaac	10	8	12	11	2	0	0	0	0	0	0	1	2	1	1	2	4	4	3	2	4	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23745163G>A	ENST00000357460.5	-	2	1438	c.1274C>T	c.(1273-1275)cCt>cTt	p.P425L	HOMEZ_ENST00000561013.1_Missense_Mutation_p.P427L|HOMEZ_ENST00000431326.2_Missense_Mutation_p.P427L	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	425	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P425H(1)|p.P401H(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGGGGCACCAGGTACTGCGTT	0.537													7	14					0	0	0	0	A	23745163	G	A	23745163	3	1	328	1	0	0	0	0	1	0	0	0	7331	1000	35	4	382	4	HOMEZ	14	23745163	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	507959	23745163	83604377	1775	59989											
CMTM5	116173	broad.mit.edu	37	chr14	23846500	23846500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccgggaccggcaccctgagGagggggtagttgcagagctc	7	5	18	11	2	0	2	0	1	0	1	1	4	0	4	3	5	2	5	3	5	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23846500G>A	ENST00000359320.3	+	1	484	c.40G>A	c.(40-42)Gag>Aag	p.E14K	CMTM5_ENST00000397227.3_Missense_Mutation_p.E14K|CMTM5_ENST00000555731.1_Missense_Mutation_p.E14K|CMTM5_ENST00000382809.2_Missense_Mutation_p.E14K|CMTM5_ENST00000339180.4_Missense_Mutation_p.E14K|CMTM5_ENST00000342473.4_Missense_Mutation_p.E14K	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	14					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GCACCCTGAGGAGGGGGTAGT	0.607													31	46					0	0	0	0	A	23846500	G	A	23846500	3	1	328	1	0	0	0	0	1	0	0	0	3616	1175	41	2	42	2	CMTM5	14	23846500	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	101337	23846500	83503040	1776	59990											
CMTM5	116173	broad.mit.edu	37	chr14	23848307	23848307	+	Missense_Mutation	SNP	G	G	A																															ctttgcagctgtgacctcccGggacggagctgccattgctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23848307G>A	ENST00000359320.3	+	3	791	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	CMTM5_ENST00000397227.3_Missense_Mutation_p.R65Q|CMTM5_ENST00000555731.1_Missense_Mutation_p.R78Q|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000339180.4_Missense_Mutation_p.R183Q|CMTM5_ENST00000342473.4_Intron	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	183	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GTGACCTCCCGGGACGGAGCT	0.577													8	20					0	0	0	0	A	23848307	G	A	23848307	3	1	328	1	0	0	0	0	1	0	0	0	3616	1116	39	1	357	1	CMTM5	14	23848307	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1807	23848307	83501233	1777	59991	643	2									
CMTM5	116173	broad.mit.edu	37	chr14	23848308	23848308	+	Silent	SNP	G	G	A																															tttgcagctgtgacctcccgGgacggagctgccattgctgc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23848308G>A	ENST00000359320.3	+	3	792	c.348G>A	c.(346-348)cgG>cgA	p.R116R	CMTM5_ENST00000397227.3_Silent_p.R65R|CMTM5_ENST00000555731.1_Silent_p.R78R|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000339180.4_Silent_p.R183R|CMTM5_ENST00000342473.4_Intron	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	183	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		TGACCTCCCGGGACGGAGCTG	0.582													8	22					0	0	0	0	A	23848308	G	A	23848308	2	1	328	1	0	0	0	0	0	0	0	1	3616	1219	43	4		4	CMTM5	14	23848308	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	23848308	83501232	1778	59992	643	2									
NGDN	25983	broad.mit.edu	37	chr14	23944467	23944467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctggacaaagcctcaggaGgatctcttcagggacatgat	11	10	11	9	0	4	1	2	1	2	0	5	5	4	5	1	4	1	0	1	4	1	2	rs147692634	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23944467G>A	ENST00000397154.3	+	4	245	c.232G>A	c.(232-234)Gga>Aga	p.G78R	NGDN_ENST00000408901.3_Missense_Mutation_p.G78R			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	78	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGCCTCAGGAGGATCTCTTCA	0.458													34	56					0	0	0	0	A	23944467	G	A	23944467	3	1	328	1	0	0	0	0	1	0	0	0	10463	1001	35	4	246	4	NGDN	14	23944467	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	96159	23944467	83405073	1779	59993											
NYNRIN	57523	broad.mit.edu	37	chr14	24884423	24884423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctgatggcccccaactcCcagctgcccttccgcctgga	5	8	9	19	1	0	1	0	1	0	0	2	2	2	2	7	2	4	1	7	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:24884423C>T	ENST00000382554.3	+	9	3786	c.3468C>T	c.(3466-3468)tcC>tcT	p.S1156S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1156					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCCCAACTCCCAGCTGCCCT	0.647													23	50					0	0	0	0	T	24884423	C	T	24884423	2	4	328	1	0	0	0	0	0	0	0	1	10867	610	22	4		4	NYNRIN	14	24884423	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	939956	24884423	82465117	1780	59994											
ARHGAP5	394	broad.mit.edu	37	chr14	32563456	32563456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagaaaaggaagacatcgtgGaagtgaagaagatccacttc	18	6	11	6	1	0	5	0	1	0	4	3	7	1	7	1	2	0	0	1	2	7	1	rs149893615		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:32563456G>A	ENST00000345122.3	+	2	3896	c.3581G>A	c.(3580-3582)gGa>gAa	p.G1194E	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.G1194E|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.G1194E|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.G1194E|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1194					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGACATCGTGGAAGTGAAGAA	0.383													44	62					0	0	0	0	A	32563456	G	A	32563456	3	1	328	1	0	0	0	0	1	0	0	0	888	1174	41	2	3583	2	ARHGAP5	14	32563456	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7679033	32563456	74786084	1781	59995											
PNN	5411	broad.mit.edu	37	chr14	39647066	39647066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccggcgaatatttggcttGttgatgggtacccttcaaaa	11	12	10	8	2	1	1	1	1	0	0	1	2	1	1	2	3	2	3	2	3	6	6	rs1138657		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:39647066G>T	ENST00000216832.4	+	6	511	c.444G>T	c.(442-444)ttG>ttT	p.L148F	PNN_ENST00000553331.1_Missense_Mutation_p.V117F	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	148	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TATTTGGCTTGTTGATGGGTA	0.318													113	195					2.68169e-52	2.74748e-52	1	0	T	39647066	G	T	39647066	3	4	328	1	0	0	0	0	1	0	0	0	12232	1368	48	4	466	4	PNN	14	39647066	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7083610	39647066	67702474	1782	59996											
FSCB	84075	broad.mit.edu	37	chr14	44975196	44975196	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgatggaggctgaattTcagcaggaaactccactaaa	14	8	10	9	0	1	2	1	2	0	0	2	4	2	4	1	3	3	3	1	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:44975196T>A	ENST00000340446.4	-	1	1286	c.995A>T	c.(994-996)gAa>gTa	p.E332V		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	332	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGGCTGAATTTCAGCAGGAAA	0.522													39	65					0	0	0	0	A	44975196	T	A	44975196	3	1	328	1	0	0	0	0	1	0	0	0	6114	1783	62	5	1486	5	FSCB	14	44975196	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	5328130	44975196	62374344	1783	59997											
PSMC6	5706	broad.mit.edu	37	chr14	53184987	53184987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaagtacattggtgaaaGtgctcgtttgatcagagaaa	15	10	11	5	1	1	4	1	2	0	2	2	5	1	4	0	1	2	3	0	1	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:53184987G>A	ENST00000445930.2	+	9	680	c.674G>A	c.(673-675)aGt>aAt	p.S225N	PSMC6_ENST00000606149.1_Missense_Mutation_p.S211N			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	211					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					ATTGGTGAAAGTGCTCGTTTG	0.294													35	43					0	0	0	0	A	53184987	G	A	53184987	3	1	328	1	0	0	0	0	1	0	0	0	12770	1029	36	4	708	4	PSMC6	14	53184987	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	8209791	53184987	54164553	1784	59998											
FBXO34	55030	broad.mit.edu	37	chr14	55818703	55818703	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggtctgctgagccatttgTactgccagcctcttctgtgg	4	14	12	11	0	3	1	0	1	3	0	3	1	3	1	3	2	5	2	3	2	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:55818703T>C	ENST00000313833.4	+	2	1840	c.1595T>C	c.(1594-1596)gTa>gCa	p.V532A	FBXO34_ENST00000440021.1_Missense_Mutation_p.V532A	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	532										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GAGCCATTTGTACTGCCAGCC	0.498													54	91					0	0	0	0	C	55818703	T	C	55818703	3	2	328	1	0	0	0	0	1	0	0	0	5789	1638	57	5	1597	5	FBXO34	14	55818703	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	2633716	55818703	51530837	1785	59999											
EXOC5	10640	broad.mit.edu	37	chr14	57676316	57676316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcacacttcctatattcgGctacatcacaaatggccaac	12	10	6	13	1	1	0	1	0	0	0	3	0	2	0	2	3	2	2	2	3	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:57676316G>A	ENST00000413566.2	-	17	2266	c.1907C>T	c.(1906-1908)gCc>gTc	p.A636V	EXOC5_ENST00000340918.7_Missense_Mutation_p.A571V	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	636					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						CCTATATTCGGCTACATCACA	0.388													10	19					0	0	0	0	A	57676316	G	A	57676316	3	1	328	1	0	0	0	0	1	0	0	0	5344	1203	42	4	227	4	EXOC5	14	57676316	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1857613	57676316	49673224	1786	60000											
SLC35F4	341880	broad.mit.edu	37	chr14	58063613	58063613	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccaagagtagttcatcCatgacagacattttaatcac	15	11	6	9	0	2	4	2	1	0	3	4	4	4	4	2	0	0	2	2	0	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:58063613C>T	ENST00000339762.6	-	1	2	c.3G>A	c.(1-3)atG>atA	p.M1I	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000557430.1_Intron					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTAGTTCATCCATGACAGACA	0.443													15	21					0	0	0	0	T	58063613	C	T	58063613	1	4	328	1	0	0	0	0	0	0	0	0	14679	594	21	4		4	SLC35F4	14	58063613	Translation_Start_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	387297	58063613	49285927	1787	60001											
KIAA0586	9786	broad.mit.edu	37	chr14	58917345	58917345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgataaacagaaatctcCtttggagacaccagcacctc	13	11	6	11	0	1	3	0	1	1	2	3	4	1	3	3	1	2	1	3	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:58917345C>T	ENST00000423743.3	+	9	1136	c.878C>T	c.(877-879)cCt>cTt	p.P293L	KIAA0586_ENST00000354386.6_Missense_Mutation_p.P390L|KIAA0586_ENST00000556134.1_Missense_Mutation_p.P322L|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.P337L	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	337								p.P337L(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGAAATCTCCTTTGGAGACA	0.323													14	23					0	0	0	0	T	58917345	C	T	58917345	3	4	328	1	0	0	0	0	1	0	0	0	8237	681	24	4	1040	4	KIAA0586	14	58917345	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	853732	58917345	48432195	1788	60002											
DACT1	51339	broad.mit.edu	37	chr14	59113391	59113391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcggtggaagtcctcggccGagatttcctacgaagaggcc	8	7	15	11	4	0	2	0	0	0	2	3	5	2	3	4	5	1	0	4	5	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:59113391G>A	ENST00000395153.3	+	4	2086	c.1939G>A	c.(1939-1941)Gag>Aag	p.E647K	DACT1_ENST00000335867.4_Missense_Mutation_p.E684K|DACT1_ENST00000395151.3_Missense_Mutation_p.E403K|DACT1_ENST00000541264.2_Missense_Mutation_p.E403K|DACT1_ENST00000556859.1_Missense_Mutation_p.E403K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	684					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTCCTCGGCCGAGATTTCCTA	0.692													12	23					0	0	0	0	A	59113391	G	A	59113391	3	1	328	1	0	0	0	0	1	0	0	0	4255	1059	37	1	2064	1	DACT1	14	59113391	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	196046	59113391	48236149	1789	60003											
KCNH5	27133	broad.mit.edu	37	chr14	63269170	63269170	+	Nonsense_Mutation	SNP	G	G	A																															gggagcacagtgaatggtttGgaactctaccgccaaggcgc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:63269170G>A	ENST00000322893.7	-	9	1967	c.1699C>T	c.(1699-1701)Caa>Taa	p.Q567*	KCNH5_ENST00000394968.1_Nonsense_Mutation_p.Q509*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.Q567*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	567					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGAATGGTTTGGAACTCTACC	0.507													23	49					0	0	0	0	A	63269170	G	A	63269170	4	1	328	1	0	0	0	0	0	1	0	0	8088	1357	47	4	1313	4	KCNH5	14	63269170	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4155779	63269170	44080370	1790	60004	644	2									
KCNH5	27133	broad.mit.edu	37	chr14	63269171	63269171	+	Silent	SNP	G	G	A																															ggagcacagtgaatggtttgGaactctaccgccaaggcgcg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:63269171G>A	ENST00000322893.7	-	9	1966	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	KCNH5_ENST00000394968.1_Silent_p.F508F|KCNH5_ENST00000420622.2_Silent_p.F566F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	566					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GAATGGTTTGGAACTCTACCG	0.512													23	47					0	0	0	0	A	63269171	G	A	63269171	2	1	328	1	0	0	0	0	0	0	0	1	8088	1165	41	2		2	KCNH5	14	63269171	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	63269171	44080369	1791	60005	644	2									
SGPP1	81537	broad.mit.edu	37	chr14	64165303	64165303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttaccagaatagagtgcattCccatgtaaattctacttagg	13	13	7	8	0	1	2	0	0	1	2	2	2	2	2	2	1	3	2	2	1	7	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:64165303C>T	ENST00000247225.6	-	2	852	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	253						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AGAGTGCATTCCCATGTAAAT	0.299													19	22					0	0	0	0	T	64165303	C	T	64165303	3	4	328	1	0	0	0	0	1	0	0	0	14306	855	30	2	575	2	SGPP1	14	64165303	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	896132	64165303	43184237	1792	60006											
SYNE2	23224	broad.mit.edu	37	chr14	64421611	64421611	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagaacaagaattaaaaatCcccagattgctggaaccaga	18	6	8	9	0	0	4	0	0	0	4	1	5	1	5	3	1	3	2	3	1	7	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:64421611C>T	ENST00000358025.3	+	8	995	c.765C>T	c.(763-765)atC>atT	p.I255I	SYNE2_ENST00000554584.1_Silent_p.I255I|SYNE2_ENST00000341472.5_Silent_p.I255I|SYNE2_ENST00000356081.3_Silent_p.I255I|SYNE2_ENST00000344113.4_Silent_p.I255I|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	255	Actin-binding.|CH 2.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATTAAAAATCCCCAGATTGC	0.368													21	33					0	0	0	0	T	64421611	C	T	64421611	2	4	328	1	0	0	0	0	0	0	0	1	15537	845	30	2		2	SYNE2	14	64421611	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	256308	64421611	42927929	1793	60007											
ESR2	2100	broad.mit.edu	37	chr14	64727453	64727453	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaggcggtacccacatctCtctctccgggagcctgaaga	10	7	10	14	2	2	2	0	1	2	1	5	3	3	3	3	3	2	1	3	3	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:64727453C>T	ENST00000557772.1	-	4	665	c.666G>A	c.(664-666)gaG>gaA	p.E222E	ESR2_ENST00000341099.4_Silent_p.E222E|ESR2_ENST00000267525.6_Silent_p.E222E|ESR2_ENST00000353772.3_Silent_p.E222E|ESR2_ENST00000358599.5_Silent_p.E222E|ESR2_ENST00000555278.1_Silent_p.E222E|ESR2_ENST00000554572.1_Silent_p.E222E|ESR2_ENST00000542956.1_Silent_p.E222E|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000357782.2_Silent_p.E222E|ESR2_ENST00000553796.1_Silent_p.E222E	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	222	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ACCCACATCTCTCTCTCCGGG	0.572													21	30					0	0	0	0	T	64727453	C	T	64727453	2	4	328	1	0	0	0	0	0	0	0	1	5295	912	32	2		2	ESR2	14	64727453	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	305842	64727453	42622087	1794	60008											
ACTN1	87	broad.mit.edu	37	chr14	69343912	69343912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtcactacccccaggcGgttggggtccacaatgctca	9	8	11	13	1	2	0	2	0	0	0	3	1	3	0	3	4	2	2	3	4	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:69343912G>T	ENST00000193403.6	-	20	2790	c.2407C>A	c.(2407-2409)Cgc>Agc	p.R803S	ACTN1_ENST00000376839.3_Missense_Mutation_p.R733S|ACTN1_ENST00000538545.2_Missense_Mutation_p.R798S|ACTN1_ENST00000394419.4_Missense_Mutation_p.R825S|ACTN1_ENST00000438964.2_Missense_Mutation_p.R798S	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	803	EF-hand 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)		ACCCCCAGGCGGTTGGGGTCC	0.557													19	47					3.62473e-10	3.65979e-10	1	0	T	69343912	G	T	69343912	3	4	328	1	0	0	0	0	1	0	0	0	204	1116	39	3	279	3	ACTN1	14	69343912	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4616459	69343912	38005628	1795	60009											
ADAM21	8747	broad.mit.edu	37	chr14	70924496	70924496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccagtgttcacctacacaGatgaccgtgcactcctggag	9	9	9	14	1	1	2	1	1	0	1	3	3	3	3	4	1	2	2	4	1	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:70924496G>A	ENST00000603540.1	+	2	538	c.280G>A	c.(280-282)Gat>Aat	p.D94N	ADAM21_ENST00000267499.3_Missense_Mutation_p.D94N|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	94					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CACCTACACAGATGACCGTGC	0.512													8	121					0	0	0	0	A	70924496	G	A	70924496	3	1	328	1	0	0	0	0	1	0	0	0	243	942	33	2	282	2	ADAM21	14	70924496	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1580584	70924496	36425044	1796	60010											
ZFYVE1	53349	broad.mit.edu	37	chr14	73464926	73464926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgtggttgagagtatgaGactttccatcaccagtattt	11	14	10	6	0	1	2	1	2	0	2	2	4	2	2	2	1	0	3	2	1	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:73464926G>A	ENST00000556143.1	-	3	1301	c.581C>T	c.(580-582)tCt>tTt	p.S194F	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.S194F|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.S194F	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	194						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GAGAGTATGAGACTTTCCATC	0.438													24	67					0	0	0	0	A	73464926	G	A	73464926	3	1	328	1	0	0	0	0	1	0	0	0	17758	942	33	2	1792	2	ZFYVE1	14	73464926	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2540430	73464926	33884614	1797	60011											
DNAL1	83544	broad.mit.edu	37	chr14	74138254	74138254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcactacagaaaacttgaGgatattatctttaggaagaa	16	13	7	5	0	2	3	1	1	1	2	2	5	2	5	0	2	2	0	0	2	8	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74138254G>A	ENST00000553645.1	+	5	259	c.218G>A	c.(217-219)aGg>aAg	p.R73K	DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000311089.3_5'UTR|DNAL1_ENST00000554871.1_Missense_Mutation_p.R34K|DNAL1_ENST00000540526.1_Missense_Mutation_p.R34K	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	73										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		GAAAACTTGAGGATATTATCT	0.224													3	6					0	0	0	0	A	74138254	G	A	74138254	3	1	328	1	0	0	0	0	1	0	0	0	4693	1000	35	4	236	4	DNAL1	14	74138254	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	673328	74138254	33211286	1798	60012											
LTBP2	4053	broad.mit.edu	37	chr14	74995355	74995355	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacaggcggatgtcggagctCgcgtaggtgtagccgtggcc	6	7	18	10	5	0	0	0	0	0	0	2	3	0	2	2	5	2	3	2	5	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74995355C>T	ENST00000261978.4	-	12	2585	c.2199G>A	c.(2197-2199)gcG>gcA	p.A733A	LTBP2_ENST00000556690.1_Silent_p.A733A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	733					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGTCGGAGCTCGCGTAGGTGT	0.637													26	47					0	0	0	0	T	74995355	C	T	74995355	2	4	328	1	0	0	0	0	0	0	0	1	9138	871	31	1		1	LTBP2	14	74995355	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	857101	74995355	32354185	1799	60013											
DLST	1743	broad.mit.edu	37	chr14	75348709	75348709	+	Missense_Mutation	SNP	C	C	T																															gttcagccgctcgctctccgCcttccagaaggtacggtctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:75348709C>T	ENST00000334220.4	+	1	114	c.53C>T	c.(52-54)gCc>gTc	p.A18V	DLST_ENST00000334212.6_5'UTR|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	18					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TCGCTCTCCGCCTTCCAGAAG	0.731													7	6					0	0	0	0	T	75348709	C	T	75348709	3	4	328	1	0	0	0	0	1	0	0	0	4606	739	26	4	55	4	DLST	14	75348709	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	353354	75348709	32000831	1800	60014	645	2									
DLST	1743	broad.mit.edu	37	chr14	75348710	75348710	+	Silent	SNP	C	C	T																															ttcagccgctcgctctccgcCttccagaaggtacggtctgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:75348710C>T	ENST00000334220.4	+	1	115	c.54C>T	c.(52-54)gcC>gcT	p.A18A	DLST_ENST00000334212.6_5'UTR|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	18					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CGCTCTCCGCCTTCCAGAAGG	0.731													7	6					0	0	0	0	T	75348710	C	T	75348710	2	4	328	1	0	0	0	0	0	0	0	1	4606	668	24	4		4	DLST	14	75348710	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	75348710	32000830	1801	60015	645	2									
EIF2B2	8892	broad.mit.edu	37	chr14	75475786	75475786	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgtgtttgactacgttccCccagagctcattaccctctt	6	14	6	15	1	2	2	1	1	1	1	3	2	3	2	4	0	3	3	4	0	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:75475786C>T	ENST00000266126.5	+	8	1031	c.951C>T	c.(949-951)ccC>ccT	p.P317P		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	317					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		ACTACGTTCCCCCAGAGCTCA	0.488													68	121					0	0	0	0	T	75475786	C	T	75475786	2	4	328	1	0	0	0	0	0	0	0	1	5037	610	22	4		4	EIF2B2	14	75475786	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	127076	75475786	31873754	1802	60016											
TTLL5	23093	broad.mit.edu	37	chr14	76245981	76245981	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacaagtctgctagtgtcttCctggggactcactctaaaat	11	12	8	10	0	4	0	1	0	3	0	5	1	5	1	1	2	2	1	1	2	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:76245981C>T	ENST00000298832.9	+	24	2656	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	TTLL5_ENST00000557636.1_Silent_p.F831F|TTLL5_ENST00000554510.1_Silent_p.F326F|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Silent_p.F368F	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	817					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTAGTGTCTTCCTGGGGACTC	0.393													25	46					0	0	0	0	T	76245981	C	T	76245981	2	4	328	1	0	0	0	0	0	0	0	1	16826	854	30	2		2	TTLL5	14	76245981	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	770195	76245981	31103559	1803	60017											
VASH1	22846	broad.mit.edu	37	chr14	77239592	77239592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggggaggggtccgggcttCtctgggcctcagcttcctgc	4	9	16	12	1	2	0	1	0	1	0	5	1	4	1	3	6	2	2	3	6	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77239592C>T	ENST00000554237.1	+	4	1061	c.568C>T	c.(568-570)Ctc>Ttc	p.L190F	VASH1_ENST00000167106.4_Intron|VASH1_ENST00000556038.1_Intron			Q7L8A9	VASH1_HUMAN	vasohibin 1	0					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GTCCGGGcttctctgggcctc	0.577													9	25					0	0	0	0	T	77239592	C	T	77239592	3	4	328	1	0	0	0	0	1	0	0	0	17221	928	32	2		2	VASH1	14	77239592	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	993611	77239592	30109948	1804	60018											
ANGEL1	23357	broad.mit.edu	37	chr14	77270233	77270233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctctggtaaagctgatggGagaagtcttcctgtccagat	9	12	11	9	0	2	3	0	1	2	2	5	4	5	3	3	2	1	2	3	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77270233G>A	ENST00000251089.2	-	6	1515	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	ANGEL1_ENST00000557179.1_Missense_Mutation_p.S33F	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	468										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AAGCTGATGGGAGAAGTCTTC	0.512													58	104					0	0	0	0	A	77270233	G	A	77270233	3	1	328	1	0	0	0	0	1	0	0	0	608	1174	41	2	629	2	ANGEL1	14	77270233	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	30641	77270233	30079307	1805	60019											
TMED8	283578	broad.mit.edu	37	chr14	77812759	77812759	+	Missense_Mutation	SNP	G	G	T																															ccaaggcctgagcctccaaaGgaccagttgctttccgcaga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77812759G>T	ENST00000216468.7	-	3	315	c.260C>A	c.(259-261)cCt>cAt	p.P87H		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	87					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGCCTCCAAAGGACCAGTTGC	0.512													21	50					1.50039e-11	1.51719e-11	1	0	T	77812759	G	T	77812759	3	4	328	1	0	0	0	0	1	0	0	0	16105	1000	35	4	732	4	TMED8	14	77812759	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	542526	77812759	29536781	1806	60020	646	2									
TMED8	283578	broad.mit.edu	37	chr14	77812760	77812760	+	Missense_Mutation	SNP	G	G	A																															caaggcctgagcctccaaagGaccagttgctttccgcagat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77812760G>A	ENST00000216468.7	-	3	314	c.259C>T	c.(259-261)Cct>Tct	p.P87S		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	87					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCCTCCAAAGGACCAGTTGCT	0.512													21	51					0	0	0	0	A	77812760	G	A	77812760	3	1	328	1	0	0	0	0	1	0	0	0	16105	1174	41	2	733	2	TMED8	14	77812760	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	77812760	29536780	1807	60021	646	2									
TMED8	283578	broad.mit.edu	37	chr14	77812778	77812778	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccagttgctttccgcaGatcttccgtggcatccttac	7	12	9	13	2	1	1	0	0	1	1	4	2	4	2	4	2	2	4	4	2	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77812778G>T	ENST00000216468.7	-	3	296	c.241C>A	c.(241-243)Ctg>Atg	p.L81M		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	81					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCTTTCCGCAGATCTTCCGTG	0.512													30	55					2.08457e-15	2.11946e-15	1	0	T	77812778	G	T	77812778	3	4	328	1	0	0	0	0	1	0	0	0	16105	933	33	2	751	2	TMED8	14	77812778	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	18	77812778	29536762	1808	60022											
ISM2	145501	broad.mit.edu	37	chr14	77942412	77942412	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggctcagatacttgattagGaagtcgctcttgcagttcag	9	13	11	8	1	3	2	2	1	1	1	4	3	3	3	0	2	2	4	0	2	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77942412G>A	ENST00000393684.3	-	8	1369	c.978C>T	c.(976-978)ttC>ttT	p.F326F	ISM2_ENST00000412904.1_Silent_p.F333F|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Silent_p.F333F|ISM2_ENST00000342219.4_Silent_p.F414F			Q6H9L7	ISM2_HUMAN	isthmin 2	414						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ACTTGATTAGGAAGTCGCTCT	0.602													30	41					0	0	0	0	A	77942412	G	A	77942412	2	1	328	1	0	0	0	0	0	0	0	1	7914	1165	41	2		2	ISM2	14	77942412	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	129634	77942412	29407128	1809	60023											
ADCK1	57143	broad.mit.edu	37	chr14	78390908	78390908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcggaagcaccccggcacgGgaaaggcggagattgtcctg	9	5	16	11	4	0	1	0	0	0	1	1	4	1	3	3	5	2	2	3	5	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:78390908G>A	ENST00000238561.5	+	8	1066	c.967G>A	c.(967-969)Gga>Aga	p.G323R	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.G255R	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	330	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCCCGGCACGGGAAAGGCGGA	0.582													33	47					0	0	0	0	A	78390908	G	A	78390908	3	1	328	1	0	0	0	0	1	0	0	0	288	1233	43	4	993	4	ADCK1	14	78390908	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	448496	78390908	28958632	1810	60024											
FOXN3	1112	broad.mit.edu	37	chr14	89628854	89628854	+	Silent	SNP	G	G	A																															atccctgctaagtgcaggagGgaccctgccgcttctttcat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:89628854G>A	ENST00000345097.4	-	7	1493	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S	FOXN3_ENST00000557258.1_Silent_p.S437S|FOXN3_ENST00000261302.5_Silent_p.S459S|FOXN3_ENST00000555353.1_Silent_p.S437S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	459					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGTGCAGGAGGGACCCTGCCG	0.527													34	50					0	0	0	0	A	89628854	G	A	89628854	2	1	328	1	0	0	0	0	0	0	0	1	6068	1219	43	4		4	FOXN3	14	89628854	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	11237946	89628854	17720686	1811	60025	647	2									
FOXN3	1112	broad.mit.edu	37	chr14	89628855	89628855	+	Missense_Mutation	SNP	G	G	A																															tccctgctaagtgcaggaggGaccctgccgcttctttcatc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:89628855G>A	ENST00000345097.4	-	7	1492	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	FOXN3_ENST00000557258.1_Missense_Mutation_p.S437F|FOXN3_ENST00000261302.5_Missense_Mutation_p.S459F|FOXN3_ENST00000555353.1_Missense_Mutation_p.S437F	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	459					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGCAGGAGGGACCCTGCCGC	0.522													34	50					0	0	0	0	A	89628855	G	A	89628855	3	1	328	1	0	0	0	0	1	0	0	0	6068	1174	41	2	100	2	FOXN3	14	89628855	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	89628855	17720685	1812	60026	647	2									
TDP1	55775	broad.mit.edu	37	chr14	90485694	90485694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggctgcctggggagcattgGagaagaatggcacccagctg	10	6	16	9	0	0	2	0	0	0	2	0	4	0	3	2	5	3	4	2	5	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:90485694G>A	ENST00000335725.4	+	15	1826	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	TDP1_ENST00000357382.3_Missense_Mutation_p.E287K|TDP1_ENST00000393452.3_Missense_Mutation_p.E526K|TDP1_ENST00000555880.1_Missense_Mutation_p.E526K|TDP1_ENST00000393454.2_Missense_Mutation_p.E526K	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	526					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GGGAGCATTGGAGAAGAATGG	0.542								Repair of DNA-protein crosslinks					11	28					0	0	0	0	A	90485694	G	A	90485694	3	1	328	1	0	0	0	0	1	0	0	0	15822	1175	41	2	1626	2	TDP1	14	90485694	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	856839	90485694	16863846	1813	60027											
KCNK13	56659	broad.mit.edu	37	chr14	90650549	90650549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcaccatcttgttcttcaaCctcttcctggagcgcctgat	7	13	7	14	1	4	1	1	1	3	0	5	2	5	2	4	1	3	2	4	1	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:90650549C>G	ENST00000282146.4	+	2	870	c.429C>G	c.(427-429)aaC>aaG	p.N143K		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	143						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGTTCTTCAACCTCTTCCTGG	0.562													41	64					0	0	0	0	G	90650549	C	G	90650549	3	3	328	1	0	0	0	0	1	0	0	0	8114	506	18	4	435	4	KCNK13	14	90650549	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	164855	90650549	16698991	1814	60028											
CPSF2	53981	broad.mit.edu	37	chr14	92625555	92625555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccatgaaaagtctgttcGgagatgatgaaaaagaaaca	18	7	11	5	1	1	5	0	3	1	2	2	6	1	5	1	2	1	1	1	2	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:92625555G>A	ENST00000298875.4	+	14	2335	c.2050G>A	c.(2050-2052)Gga>Aga	p.G684R		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	684					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AAGTCTGTTCGGAGATGATGA	0.413													28	40					0	0	0	0	A	92625555	G	A	92625555	3	1	328	1	0	0	0	0	1	0	0	0	3855	1117	39	1	2096	1	CPSF2	14	92625555	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1975006	92625555	14723985	1815	60029											
SLC24A4	123041	broad.mit.edu	37	chr14	92949034	92949034	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccctgcagaggccagaggGgacaaggtcaagtgggtgtt	10	6	16	9	0	1	2	1	0	0	2	1	3	1	3	2	5	1	2	2	5	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:92949034G>A	ENST00000532405.1	+	13	1492	c.1266G>A	c.(1264-1266)ggG>ggA	p.G422G	SLC24A4_ENST00000531433.1_Silent_p.G403G|SLC24A4_ENST00000298877.1_Silent_p.G405G|SLC24A4_ENST00000351924.5_Silent_p.G386G|SLC24A4_ENST00000393265.2_Silent_p.G358G			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	422						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		AGGCCAGAGGGGACAAGGTCA	0.562													35	50					0	0	0	0	A	92949034	G	A	92949034	2	1	328	1	0	0	0	0	0	0	0	1	14556	1219	43	4		4	SLC24A4	14	92949034	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	323479	92949034	14400506	1816	60030											
IFI27L2	83982	broad.mit.edu	37	chr14	94595900	94595900	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaagactcactcatcAtggtgaggccgtccgggtcc	9	7	13	12	2	3	2	3	1	0	1	5	3	5	3	3	4	1	1	3	4	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:94595900A>G	ENST00000238609.3	-	1	101	c.2T>C	c.(1-3)aTg>aCg	p.M1T	IFI27L2_ENST00000556727.1_Intron	NM_032036.2	NP_114425.1	Q9H2X8	I27L2_HUMAN	interferon, alpha-inducible protein 27-like 2	1						integral to membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	8						CTCACTCATCATGGTGAGGCC	0.627													26	47					0	0	0	0	G	94595900	A	G	94595900	1	3	328	1	0	0	0	0	0	0	0	0	7567	217	8	5		5	IFI27L2	14	94595900	Translation_Start_Site	SNP	A	TCGA-CV-7568-01A-11D-2229-08	1646866	94595900	12753640	1817	60031											
SERPINA1	5265	broad.mit.edu	37	chr14	94849227	94849227	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agttcctggaagccttcatgGatctgagcctccggaatctc	8	11	10	12	1	3	1	1	1	2	0	6	4	5	4	4	3	2	1	4	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:94849227G>A	ENST00000448921.1	-	4	920	c.348C>T	c.(346-348)atC>atT	p.I116I	SERPINA1_ENST00000404814.4_Silent_p.I116I|SERPINA1_ENST00000393088.4_Silent_p.I116I|SERPINA1_ENST00000355814.4_Silent_p.I116I|SERPINA1_ENST00000437397.1_Silent_p.I116I|SERPINA1_ENST00000402629.1_Silent_p.I116I|SERPINA1_ENST00000393087.4_Silent_p.I116I|SERPINA1_ENST00000440909.1_Silent_p.I116I|SERPINA1_ENST00000449399.3_Silent_p.I116I	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	116			I -> N (in QO-Ludwigshafen; dbSNP:rs28931572).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AGCCTTCATGGATCTGAGCCT	0.587													17	32					0	0	0	0	A	94849227	G	A	94849227	2	1	328	1	0	0	0	0	0	0	0	1	14173	1164	41	2		2	SERPINA1	14	94849227	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	253327	94849227	12500313	1818	60032											
SERPINA12	145264	broad.mit.edu	37	chr14	94962942	94962942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccagaaagaaatcttcctCtttagttacatttggatcaa	13	14	5	9	0	3	2	1	0	2	2	5	3	5	3	2	1	1	1	2	1	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:94962942C>T	ENST00000341228.2	-	4	1468	c.673G>A	c.(673-675)Gag>Aag	p.E225K	SERPINA12_ENST00000556881.1_Missense_Mutation_p.E225K	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	225					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AAATCTTCCTCTTTAGTTACA	0.403													27	51					0	0	0	0	T	94962942	C	T	94962942	3	4	328	1	0	0	0	0	1	0	0	0	14176	922	32	2	583	2	SERPINA12	14	94962942	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	113715	94962942	12386598	1819	60033											
DICER1	23405	broad.mit.edu	37	chr14	95562407	95562407	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcacagctcactgaaAggttcttttgttggctgttg	8	13	11	9	0	2	1	1	1	1	0	2	1	2	1	0	2	3	7	0	2	1	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:95562407A>T	ENST00000526495.1	-	25	5141	c.4850T>A	c.(4849-4851)cTt>cAt	p.L1617H	DICER1_ENST00000393063.1_Missense_Mutation_p.L1617H|DICER1_ENST00000556045.1_Missense_Mutation_p.L515H|DICER1_ENST00000541352.1_Missense_Mutation_p.L1617H|DICER1_ENST00000527414.1_Missense_Mutation_p.L1617H|DICER1_ENST00000343455.3_Missense_Mutation_p.L1617H			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1617					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCTCACTGAAAGGTTCTTTTG	0.473			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				127	194					0	0	0	0	T	95562407	A	T	95562407	3	4	328	1	0	0	0	0	1	0	0	0	4558	72	3	5	938	5	DICER1	14	95562407	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	599465	95562407	11787133	1820	60034											
DICER1	23405	broad.mit.edu	37	chr14	95592951	95592951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtagaatctctttcttttGaatgtacagatatattacaa	15	16	5	5	0	2	3	0	1	2	2	3	3	2	3	0	0	2	2	0	0	9	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:95592951G>A	ENST00000526495.1	-	9	1160	c.869C>T	c.(868-870)tCa>tTa	p.S290L	DICER1_ENST00000393063.1_Missense_Mutation_p.S290L|DICER1_ENST00000541352.1_Missense_Mutation_p.S290L|DICER1_ENST00000527414.1_Missense_Mutation_p.S290L|DICER1_ENST00000343455.3_Missense_Mutation_p.S290L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	290	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCTTTCTTTTGAATGTACAGA	0.289			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				33	49					0	0	0	0	A	95592951	G	A	95592951	3	1	328	1	0	0	0	0	1	0	0	0	4558	1294	45	2	4983	2	DICER1	14	95592951	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	30544	95592951	11756589	1821	60035											
CLMN	79789	broad.mit.edu	37	chr14	95670599	95670599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggaaacaccatccaggcGgaattccttcatgctctcgg	9	9	10	13	2	2	0	1	0	1	0	5	2	4	2	3	4	2	2	3	4	2	2	rs140868681		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:95670599G>A	ENST00000298912.4	-	9	1200	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	363						integral to membrane	actin binding	p.R363C(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCATCCAGGCGGAATTCCTTC	0.542													42	78					0	0	0	0	A	95670599	G	A	95670599	3	1	328	1	0	0	0	0	1	0	0	0	3572	1116	39	1	1941	1	CLMN	14	95670599	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	77648	95670599	11678941	1822	60036											
EML1	2009	broad.mit.edu	37	chr14	100331945	100331945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctctaccatccccctcCggggtcaggaaagaaactgc	9	7	10	15	1	2	1	1	0	1	1	5	2	4	2	4	4	3	1	4	4	3	1	rs139395720	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:100331945C>T	ENST00000262233.6	+	3	484	c.345C>T	c.(343-345)tcC>tcT	p.S115S	EML1_ENST00000327921.9_Silent_p.S84S|EML1_ENST00000334192.4_Silent_p.S115S|EML1_ENST00000556758.1_3'UTR	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	115						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CATCCCCCTCCGGGGTCAGGA	0.493													23	17					0	0	0	0	T	100331945	C	T	100331945	2	4	328	1	0	0	0	0	0	0	0	1	5134	639	23	1		1	EML1	14	100331945	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4661346	100331945	7017595	1823	60037											
WARS	7453	broad.mit.edu	37	chr14	100826920	100826920	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagaagatgcctctgcgcagGaagtggtgtggtctttggcc	8	10	15	8	1	2	2	0	0	2	2	2	3	2	3	2	4	2	1	2	4	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:100826920G>A	ENST00000355338.2	-	4	1011	c.393C>T	c.(391-393)ttC>ttT	p.F131F	WARS_ENST00000556645.1_Silent_p.F90F|WARS_ENST00000358655.4_Silent_p.F90F|WARS_ENST00000344102.5_Silent_p.F90F|WARS_ENST00000392882.2_Silent_p.F131F|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Silent_p.F131F	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	131					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTCTGCGCAGGAAGTGGTGTG	0.448													33	68					0	0	0	0	A	100826920	G	A	100826920	2	1	328	1	0	0	0	0	0	0	0	1	17345	1165	41	2		2	WARS	14	100826920	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	494975	100826920	6522620	1824	60038											
ZNF839	55778	broad.mit.edu	37	chr14	102792613	102792613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtccctgcaaagagagtcCcagcccccaaggctccagat	10	6	10	15	0	0	2	0	0	0	2	3	3	3	2	5	2	2	2	5	2	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:102792613C>T	ENST00000262236.5	+	2	587	c.232C>T	c.(232-234)Cca>Tca	p.P78S	ZNF839_ENST00000442396.2_Missense_Mutation_p.P194S|ZNF839_ENST00000558850.1_Missense_Mutation_p.P78S|ZNF839_ENST00000559185.1_Missense_Mutation_p.P78S	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	78						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AAAGAGAGTCCCAGCCCCCAA	0.567													8	18					0	0	0	0	T	102792613	C	T	102792613	3	4	328	1	0	0	0	0	1	0	0	0	18281	623	22	4	586	4	ZNF839	14	102792613	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1965693	102792613	4556927	1825	60039											
TRAF3	7187	broad.mit.edu	37	chr14	103369698	103369698	+	Missense_Mutation	SNP	C	C	T																															catgaagagcagcgtggagtCcctccagaaccgcgtgaccg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:103369698C>T	ENST00000560371.1	+	10	1284	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	TRAF3_ENST00000351691.5_Missense_Mutation_p.S331F|TRAF3_ENST00000539721.1_Missense_Mutation_p.S273F|TRAF3_ENST00000347662.4_Missense_Mutation_p.S331F|TRAF3_ENST00000392745.2_Missense_Mutation_p.S356F	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	356					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGCGTGGAGTCCCTCCAGAAC	0.632													30	53					0	0	0	0	T	103369698	C	T	103369698	3	4	328	1	0	0	0	0	1	0	0	0	16534	855	30	2	1101	2	TRAF3	14	103369698	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	577085	103369698	3979842	1826	60040	648	2									
TRAF3	7187	broad.mit.edu	37	chr14	103369699	103369699	+	Silent	SNP	C	C	T																															atgaagagcagcgtggagtcCctccagaaccgcgtgaccga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:103369699C>T	ENST00000560371.1	+	10	1285	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	TRAF3_ENST00000351691.5_Silent_p.S331S|TRAF3_ENST00000539721.1_Silent_p.S273S|TRAF3_ENST00000347662.4_Silent_p.S331S|TRAF3_ENST00000392745.2_Silent_p.S356S	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	356					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GCGTGGAGTCCCTCCAGAACC	0.632													28	55					0	0	0	0	T	103369699	C	T	103369699	2	4	328	1	0	0	0	0	0	0	0	1	16534	610	22	4		4	TRAF3	14	103369699	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	103369699	3979841	1827	60041	648	2									
KIF26A	26153	broad.mit.edu	37	chr14	104638927	104638927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctaggccgaagtctgctcgGggaccgtggccgacgtgctc	5	7	15	14	5	1	0	0	0	1	0	3	3	1	1	4	4	2	2	4	4	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:104638927G>A	ENST00000315264.7	+	6	1303	c.925G>A	c.(925-927)Ggg>Agg	p.G309R	KIF26A_ENST00000423312.2_Missense_Mutation_p.G448R			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	448					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGTCTGCTCGGGGACCGTGGC	0.637													13	20					0	0	0	0	A	104638927	G	A	104638927	3	1	328	1	0	0	0	0	1	0	0	0	8345	1232	43	4	1368	4	KIF26A	14	104638927	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1269228	104638927	2710613	1828	60042											
KIF26A	26153	broad.mit.edu	37	chr14	104642401	104642401	+	Silent	SNP	G	G	A																															tacacctctcaggcccctgaGggggggcccctggagggggc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:104642401G>A	ENST00000315264.7	+	11	3237	c.2859G>A	c.(2857-2859)gaG>gaA	p.E953E	KIF26A_ENST00000423312.2_Silent_p.E1092E			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1092					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGGCCCCTGAGGGGGGGCCCC	0.682													3	4					0	0	0	0	A	104642401	G	A	104642401	2	1	328	1	0	0	0	0	0	0	0	1	8345	991	35	4		4	KIF26A	14	104642401	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3474	104642401	2707139	1829	60043	649	2									
KIF26A	26153	broad.mit.edu	37	chr14	104642402	104642402	+	Missense_Mutation	SNP	G	G	A																															acacctctcaggcccctgagGgggggcccctggagggggca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:104642402G>A	ENST00000315264.7	+	11	3238	c.2860G>A	c.(2860-2862)Ggg>Agg	p.G954R	KIF26A_ENST00000423312.2_Missense_Mutation_p.G1093R			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1093					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGCCCCTGAGGGGGGGCCCCT	0.677													3	4					0	0	0	0	A	104642402	G	A	104642402	3	1	328	1	0	0	0	0	1	0	0	0	8345	1232	43	4	3323	4	KIF26A	14	104642402	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	104642402	2707138	1830	60044	649	2									
PLD4	122618	broad.mit.edu	37	chr14	105395239	105395239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccctcacagggcctgaCatcggggtcaacgactcgtc	7	8	12	14	3	2	1	2	1	0	0	6	2	3	1	2	4	1	0	2	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105395239C>A	ENST00000540372.1	+	4	651	c.459C>A	c.(457-459)gaC>gaA	p.D153E	PLD4_ENST00000392593.4_Missense_Mutation_p.D146E			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	146					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CAGGGCCTGACATCGGGGTCA	0.647													17	37					1.99824e-07	2.01148e-07	1	0	A	105395239	C	A	105395239	3	1	328	1	0	0	0	0	1	0	0	0	12120	477	17	4	448	4	PLD4	14	105395239	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	752837	105395239	1954301	1831	60045											
AHNAK2	113146	broad.mit.edu	37	chr14	105418941	105418941	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggggctgtcacttccgcCttggggcctttcaggtccag	3	11	14	13	2	2	0	2	0	0	0	5	0	4	0	4	5	0	1	4	5	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105418941C>T	ENST00000333244.5	-	7	2966	c.2847G>A	c.(2845-2847)aaG>aaA	p.K949K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	949						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCACTTCCGCCTTGGGGCCTT	0.617													96	180					0	0	0	0	T	105418941	C	T	105418941	2	4	328	1	0	0	0	0	0	0	0	1	415	680	24	4		4	AHNAK2	14	105418941	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	23702	105418941	1930599	1832	60046											
C14orf79	122616	broad.mit.edu	37	chr14	105452938	105452938	+	Missense_Mutation	SNP	C	C	T																															gaaagccagcatctccatgcCccgtgagggcggttccacct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105452938C>T	ENST00000547315.1	+	1	809	c.170C>T	c.(169-171)cCc>cTc	p.P57L		NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	57										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			ATCTCCATGCCCCGTGAGGGC	0.602													26	51					0	0	0	0	T	105452938	C	T	105452938	3	4	328	1	0	0	0	0	1	0	0	0	1792	623	22	4	172	4	C14orf79	14	105452938	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	33997	105452938	1896602	1833	60047	650	2									
C14orf79	122616	broad.mit.edu	37	chr14	105452939	105452939	+	Silent	SNP	C	C	T																															aaagccagcatctccatgccCcgtgagggcggttccacctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105452939C>T	ENST00000547315.1	+	1	810	c.171C>T	c.(169-171)ccC>ccT	p.P57P		NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	57										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TCTCCATGCCCCGTGAGGGCG	0.597													24	50					0	0	0	0	T	105452939	C	T	105452939	2	4	328	1	0	0	0	0	0	0	0	1	1792	610	22	4		4	C14orf79	14	105452939	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	105452939	1896601	1834	60048	650	2									
JAG2	3714	broad.mit.edu	37	chr14	105612755	105612755	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcggccatccaggcagcgGcagctgttgcagtcttccac	6	7	13	15	3	1	0	0	0	1	0	3	0	3	0	3	4	3	5	3	4	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105612755G>A	ENST00000331782.3	-	22	3079	c.2676C>T	c.(2674-2676)tgC>tgT	p.C892C	JAG2_ENST00000347004.2_Silent_p.C854C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	892	VWFC.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCAGGCAGCGGCAGCTGTTGC	0.677													32	63					0	0	0	0	A	105612755	G	A	105612755	2	1	328	1	0	0	0	0	0	0	0	1	7988	1195	42	4		4	JAG2	14	105612755	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	159816	105612755	1736785	1835	60049											
CYFIP1	23191	broad.mit.edu	37	chr15	22990141	22990141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaagtcatctgccggcttCtcggctaccagggtatcgcc	6	11	10	14	3	4	0	2	0	2	0	6	0	4	0	3	3	2	3	3	3	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:22990141C>T	ENST00000313077.7	+	24	2886	c.2761C>T	c.(2761-2763)Ctc>Ttc	p.L921F	CYFIP1_ENST00000435939.2_Missense_Mutation_p.L490F|CYFIP1_ENST00000560848.1_Missense_Mutation_p.L921F	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	921					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTGCCGGCTTCTCGGCTACCA	0.557													31	35					0	0	0	0	T	22990141	C	T	22990141	3	4	328	1	0	0	0	0	1	0	0	0	4169	913	32	2	3232	2	CYFIP1	15	22990141	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08		22990141	79541251	1836	60050											
MAGEL2	54551	broad.mit.edu	37	chr15	23889507	23889507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattaaagatcagatcctccCtgacacagttgcctttcata	13	12	5	11	0	2	3	2	1	0	2	4	3	4	3	3	0	1	1	3	0	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:23889507C>T	ENST00000532292.1	-	1	1668	c.1574G>A	c.(1573-1575)aGg>aAg	p.R525K		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGATCCTCCCTGACACAGTT	0.443													10	19					0	0	0	0	T	23889507	C	T	23889507	3	4	328	1	0	0	0	0	1	0	0	0	9258	681	24	4	370	4	MAGEL2	15	23889507	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	899366	23889507	78641885	1837	60051											
NDN	4692	broad.mit.edu	37	chr15	23931733	23931733	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgcgcagcacgttcCagacggcgctctctctggcg	6	7	13	15	5	2	1	0	0	2	1	4	2	3	2	2	3	2	4	2	3	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:23931733C>T	ENST00000331837.4	-	1	717	c.632G>A	c.(631-633)tGg>tAg	p.W211*		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	211	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CAGCACGTTCCAGACGGCGCT	0.622									Prader-Willi syndrome				15	18					0	0	0	0	T	23931733	C	T	23931733	4	4	328	1	0	0	0	0	0	1	0	0	10317	595	21	4	337	4	NDN	15	23931733	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	42226	23931733	78599659	1838	60052											
NDN	4692	broad.mit.edu	37	chr15	23932305	23932305	+	Silent	SNP	G	G	A																															ccagggctgctgtgcacctcGgagttgggggcctcggctgc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:23932305G>A	ENST00000331837.4	-	1	145	c.60C>T	c.(58-60)tcC>tcT	p.S20S		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	20					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGTGCACCTCGGAGTTGGGGG	0.667									Prader-Willi syndrome				14	10					0	0	0	0	A	23932305	G	A	23932305	2	1	328	1	0	0	0	0	0	0	0	1	10317	1103	39	1		1	NDN	15	23932305	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	572	23932305	78599087	1839	60053	651	2									
NDN	4692	broad.mit.edu	37	chr15	23932306	23932306	+	Missense_Mutation	SNP	G	G	A																															cagggctgctgtgcacctcgGagttgggggcctcggctgca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:23932306G>A	ENST00000331837.4	-	1	144	c.59C>T	c.(58-60)tCc>tTc	p.S20F		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	20					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GTGCACCTCGGAGTTGGGGGC	0.667									Prader-Willi syndrome				14	10					0	0	0	0	A	23932306	G	A	23932306	3	1	328	1	0	0	0	0	1	0	0	0	10317	1174	41	2	910	2	NDN	15	23932306	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	23932306	78599086	1840	60054	651	2									
NDN	4692	broad.mit.edu	37	chr15	23932346	23932346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaagttagggtcgctcagatCcttactttgttctgacatgt	9	15	9	8	1	2	2	1	1	1	1	4	2	3	2	1	1	1	3	1	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:23932346C>T	ENST00000331837.4	-	1	104	c.19G>A	c.(19-21)Gat>Aat	p.D7N		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	7					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCGCTCAGATCCTTACTTTGT	0.647									Prader-Willi syndrome				8	15					0	0	0	0	T	23932346	C	T	23932346	3	4	328	1	0	0	0	0	1	0	0	0	10317	855	30	2	950	2	NDN	15	23932346	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	40	23932346	78599046	1841	60055											
GABRB3	2562	broad.mit.edu	37	chr15	27017885	27017885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caacagcttgtccaccgtctCcttcacaaaggacatgttcc	10	10	6	15	1	2	0	1	0	1	0	5	1	4	1	4	1	2	2	4	1	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:27017885C>T	ENST00000541819.2	-	3	385	c.283G>A	c.(283-285)Gag>Aag	p.E95K	GABRB3_ENST00000557641.1_5'UTR|GABRB3_ENST00000311550.5_Missense_Mutation_p.E39K|GABRB3_ENST00000299267.4_Missense_Mutation_p.E39K			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	39					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	TCCACCGTCTCCTTCACAAAG	0.662													5	13					0	0	0	0	T	27017885	C	T	27017885	3	4	328	1	0	0	0	0	1	0	0	0	6216	864	30	2	1338	2	GABRB3	15	27017885	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3085539	27017885	75513507	1842	60056											
APBA2	321	broad.mit.edu	37	chr15	29393813	29393813	+	Missense_Mutation	SNP	G	G	A																															tcccgacaggaaaccatgatGgaccacgccttgcgtaccat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:29393813G>A	ENST00000558402.1	+	11	1949	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	APBA2_ENST00000561069.1_Missense_Mutation_p.M450I|APBA2_ENST00000558259.1_Missense_Mutation_p.M450I|APBA2_ENST00000411764.1_Missense_Mutation_p.M438I|APBA2_ENST00000558330.1_Missense_Mutation_p.M438I			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	450	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AAACCATGATGGACCACGCCT	0.577													15	10					0	0	0	0	A	29393813	G	A	29393813	3	1	328	1	0	0	0	0	1	0	0	0	758	1348	47	4	1376	4	APBA2	15	29393813	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2375928	29393813	73137579	1843	60057	652	2									
APBA2	321	broad.mit.edu	37	chr15	29393814	29393814	+	Missense_Mutation	SNP	G	G	A																															cccgacaggaaaccatgatgGaccacgccttgcgtaccatc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:29393814G>A	ENST00000558402.1	+	11	1950	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	APBA2_ENST00000561069.1_Missense_Mutation_p.D451N|APBA2_ENST00000558259.1_Missense_Mutation_p.D451N|APBA2_ENST00000411764.1_Missense_Mutation_p.D439N|APBA2_ENST00000558330.1_Missense_Mutation_p.D439N			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	451	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AACCATGATGGACCACGCCTT	0.572													15	9					0	0	0	0	A	29393814	G	A	29393814	3	1	328	1	0	0	0	0	1	0	0	0	758	1174	41	2	1377	2	APBA2	15	29393814	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	29393814	73137578	1844	60058	652	2									
SLC12A6	9990	broad.mit.edu	37	chr15	34542830	34542830	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actggatccataaaaaggatAcaaacaaaggaggtggtcag	18	6	11	6	0	1	0	1	0	0	0	2	3	2	3	1	5	2	0	1	5	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:34542830A>C	ENST00000354181.3	-	12	2084		c.e12+1		SLC12A6_ENST00000560611.1_Splice_Site|SLC12A6_ENST00000558589.1_Splice_Site|SLC12A6_ENST00000558667.1_Splice_Site|SLC12A6_ENST00000560164.1_Splice_Site|SLC12A6_ENST00000458406.2_Splice_Site|SLC12A6_ENST00000397702.2_Splice_Site|SLC12A6_ENST00000451844.2_Splice_Site|SLC12A6_ENST00000397707.2_Splice_Site|SLC12A6_ENST00000290209.5_Splice_Site			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6						angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TAAAAAGGATACAAACAAAGG	0.408													12	44					0	0	0	0	C	34542830	A	C	34542830	5	2	328	1	0	0	0	0	0	0	1	0	14475	405	14	5	1919	5	SLC12A6	15	34542830	Splice_Site	SNP	A	TCGA-CV-7568-01A-11D-2229-08	5149016	34542830	67988562	1845	60059											
ZNF770	54989	broad.mit.edu	37	chr15	35274541	35274541	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataagatcacaatttctcaaGaaactctttttaaatacttt	16	16	2	7	0	3	2	2	0	2	2	4	2	3	2	0	0	2	0	0	0	7	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:35274541G>A	ENST00000356321.4	-	3	1439	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AATTTCTCAAGAAACTCTTTT	0.328													6	17					0	0	0	0	A	35274541	G	A	35274541	2	1	328	1	0	0	0	0	0	0	0	1	18237	933	33	2		2	ZNF770	15	35274541	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	731711	35274541	67256851	1846	60060											
THBS1	7057	broad.mit.edu	37	chr15	39880794	39880794	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgtggaggaggggtacaGaaacgtagtcgtctctgcaa	11	8	14	8	2	1	1	0	0	1	1	3	3	1	3	1	4	3	3	1	4	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:39880794G>A	ENST00000260356.5	+	10	1704	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	513	TSP type-1 3.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GAGGGGTACAGAAACGTAGTC	0.512													14	27					0	0	0	0	A	39880794	G	A	39880794	2	1	328	1	0	0	0	0	0	0	0	1	15947	933	33	2		2	THBS1	15	39880794	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4606253	39880794	62650598	1847	60061											
BUB1B	701	broad.mit.edu	37	chr15	40488920	40488920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagtaggggaattctcCtttgaagaaattcgggctga	11	10	14	6	1	1	3	0	2	1	1	3	5	1	5	1	4	0	3	1	4	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:40488920C>T	ENST00000287598.6	+	9	1428	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	BUB1B_ENST00000412359.3_Silent_p.S425S	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	411					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GGGAATTCTCCTTTGAAGAAA	0.408			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				40	47					0	0	0	0	T	40488920	C	T	40488920	2	4	328	1	0	0	0	0	0	0	0	1	1580	668	24	4		4	BUB1B	15	40488920	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	608126	40488920	62042472	1848	60062											
DISP2	85455	broad.mit.edu	37	chr15	40657438	40657438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatggtggagcccctggaGgacagaaggcaagagaactt	14	5	15	7	0	0	3	0	0	0	3	0	7	0	6	2	5	2	1	2	5	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:40657438G>A	ENST00000267889.3	+	6	897	c.810G>A	c.(808-810)gaG>gaA	p.E270E		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	270					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		AGCCCCTGGAGGACAGAAGGC	0.607													22	45					0	0	0	0	A	40657438	G	A	40657438	2	1	328	1	0	0	0	0	0	0	0	1	4577	991	35	4		4	DISP2	15	40657438	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	168518	40657438	61873954	1849	60063											
DISP2	85455	broad.mit.edu	37	chr15	40660844	40660844	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggagaccctccagcgctGgatggagagccccagctgcg	7	5	15	14	3	0	2	0	0	0	2	1	5	1	3	4	3	4	2	4	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:40660844G>A	ENST00000267889.3	+	8	2618	c.2531G>A	c.(2530-2532)tGg>tAg	p.W844*		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	844					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTCCAGCGCTGGATGGAGAGC	0.657													15	26					0	0	0	0	A	40660844	G	A	40660844	4	1	328	1	0	0	0	0	0	1	0	0	4577	1357	47	4	2561	4	DISP2	15	40660844	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3406	40660844	61870548	1850	60064											
INO80	54617	broad.mit.edu	37	chr15	41348870	41348870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttagcaaaagccgattccGacactggaactgtaagagga	14	7	12	8	2	0	1	0	0	0	1	1	5	1	3	2	3	3	3	2	3	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:41348870G>A	ENST00000361937.3	-	17	2444	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	INO80_ENST00000401393.3_Missense_Mutation_p.R674W			Q9ULG1	INO80_HUMAN	INO80 complex subunit	674	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGCCGATTCCGACACTGGAAC	0.393													61	117					0	0	0	0	A	41348870	G	A	41348870	3	1	328	1	0	0	0	0	1	0	0	0	7799	1057	37	1	2730	1	INO80	15	41348870	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	688026	41348870	61182522	1851	60065											
EXD1	161829	broad.mit.edu	37	chr15	41476458	41476458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatgagtttgttactggaatCctcactggtttccccttcct	7	16	7	11	0	1	1	1	1	0	0	4	2	4	2	4	2	1	3	4	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:41476458C>T	ENST00000314992.5	-	10	1406	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	EXD1_ENST00000458580.2_Missense_Mutation_p.D464N	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	406					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTACTGGAATCCTCACTGGTT	0.418													56	104					0	0	0	0	T	41476458	C	T	41476458	3	4	328	1	0	0	0	0	1	0	0	0	5334	855	30	2	332	2	EXD1	15	41476458	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	127588	41476458	61054934	1852	60066											
TYRO3	7301	broad.mit.edu	37	chr15	41865994	41865994	+	Missense_Mutation	SNP	C	C	T																															ggaaccgcctgaaacagcctCcggagtgtatggaggacgtg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:41865994C>T	ENST00000263798.3	+	18	2487	c.2263C>T	c.(2263-2265)Ccg>Tcg	p.P755S	TYRO3_ENST00000559066.1_Missense_Mutation_p.P710S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	755	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAAACAGCCTCCGGAGTGTAT	0.547													40	75					0	0	0	0	T	41865994	C	T	41865994	3	4	328	1	0	0	0	0	1	0	0	0	16910	855	30	2	2333	2	TYRO3	15	41865994	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	389536	41865994	60665398	1853	60067	653	2									
TYRO3	7301	broad.mit.edu	37	chr15	41865995	41865995	+	Missense_Mutation	SNP	C	C	T																															gaaccgcctgaaacagcctcCggagtgtatggaggacgtgt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:41865995C>T	ENST00000263798.3	+	18	2488	c.2264C>T	c.(2263-2265)cCg>cTg	p.P755L	TYRO3_ENST00000559066.1_Missense_Mutation_p.P710L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	755	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAACAGCCTCCGGAGTGTATG	0.547													39	74					0	0	0	0	T	41865995	C	T	41865995	3	4	328	1	0	0	0	0	1	0	0	0	16910	652	23	1	2334	1	TYRO3	15	41865995	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	41865995	60665397	1854	60068	653	2									
PLA2G4D	283748	broad.mit.edu	37	chr15	42363026	42363026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagtaggcggcgtccaccagGcagagccggggctccttggg	7	5	17	12	3	0	1	0	0	0	1	2	1	2	1	4	6	1	3	4	6	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:42363026G>A	ENST00000290472.3	-	18	2026	c.1932C>T	c.(1930-1932)tgC>tgT	p.C644C		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	644	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGTCCACCAGGCAGAGCCGGG	0.632													7	11					0	0	0	0	A	42363026	G	A	42363026	2	1	328	1	0	0	0	0	0	0	0	1	12076	1195	42	4		4	PLA2G4D	15	42363026	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	497031	42363026	60168366	1855	60069											
GANC	2595	broad.mit.edu	37	chr15	42635341	42635341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttgatgtgtttcttccaGgatcaaatgaggtaagagta	12	13	11	5	0	2	3	1	2	1	1	3	4	3	4	1	2	0	4	1	2	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:42635341G>A	ENST00000318010.8	+	19	2458	c.2218G>A	c.(2218-2220)Gga>Aga	p.G740R		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	740					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GTTTCTTCCAGGATCAAATGA	0.373													11	25					0	0	0	0	A	42635341	G	A	42635341	3	1	328	1	0	0	0	0	1	0	0	0	6283	1001	35	4	2292	4	GANC	15	42635341	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	272315	42635341	59896051	1856	60070											
TTBK2	146057	broad.mit.edu	37	chr15	43038281	43038281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgaggagaggcactgggactCctgcgagggacaactggact	10	5	16	10	2	0	1	0	0	0	1	1	7	1	4	1	5	2	1	1	5	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:43038281C>T	ENST00000267890.6	-	15	3555	c.3447G>A	c.(3445-3447)agG>agA	p.R1149R		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1149					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CACTGGGACTCCTGCGAGGGA	0.562													38	87					0	0	0	0	T	43038281	C	T	43038281	2	4	328	1	0	0	0	0	0	0	0	1	16773	854	30	2		2	TTBK2	15	43038281	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	402940	43038281	59493111	1857	60071											
TGM5	9333	broad.mit.edu	37	chr15	43552363	43552363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accgacccacggccgccgtgGgaggagcgcacaagctcacc	9	2	13	17	5	1	0	1	0	0	0	1	3	1	2	5	3	2	2	5	3	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:43552363G>A	ENST00000220420.5	-	3	330	c.323C>T	c.(322-324)cCc>cTc	p.P108L	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	108					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGCCGCCGTGGGAGGAGCGCA	0.612													45	62					0	0	0	0	A	43552363	G	A	43552363	3	1	328	1	0	0	0	0	1	0	0	0	15927	1232	43	4	1883	4	TGM5	15	43552363	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	514082	43552363	58979029	1858	60072											
LCMT2	9836	broad.mit.edu	37	chr15	43621176	43621176	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcacttagtacaggttcCaccacgcttcgacccccata	10	9	6	16	2	1	0	1	0	0	0	3	1	2	0	4	1	1	3	4	1	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:43621176C>T	ENST00000305641.5	-	1	1627	c.1512G>A	c.(1510-1512)gtG>gtA	p.V504V	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Silent_p.V83V	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	504					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GTACAGGTTCCACCACGCTTC	0.493													51	76					0	0	0	0	T	43621176	C	T	43621176	2	4	328	1	0	0	0	0	0	0	0	1	8732	581	21	4		4	LCMT2	15	43621176	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	68813	43621176	58910216	1859	60073											
MAP1A	4130	broad.mit.edu	37	chr15	43820400	43820400	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agttctcctggggcccctctCctctccaatctgccacgacc	5	10	7	19	1	4	0	0	0	4	0	7	1	4	0	7	2	1	1	7	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:43820400C>T	ENST00000382031.1	+	5	7474	c.7443C>T	c.(7441-7443)ctC>ctT	p.L2481L	MAP1A_ENST00000399453.1_Silent_p.L2243L|MAP1A_ENST00000300231.5_Silent_p.L2243L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2243						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGCCCCTCTCCTCTCCAATC	0.617													55	96					0	0	0	0	T	43820400	C	T	43820400	2	4	328	1	0	0	0	0	0	0	0	1	9296	842	30	2		2	MAP1A	15	43820400	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	199224	43820400	58710992	1860	60074											
DUOXA1	90527	broad.mit.edu	37	chr15	45410265	45410265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggaaagtctcctggggcGatctgtaaataaaccttttt	11	12	10	8	1	2	0	0	0	2	0	3	2	2	1	2	3	1	1	2	3	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:45410265G>A	ENST00000267803.4	-	10	1393	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	DUOXA1_ENST00000559014.1_Missense_Mutation_p.R332C|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000430224.2_Missense_Mutation_p.R287C|DUOXA2_ENST00000323030.5_3'UTR	NM_144565.2	NP_653166.2	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	0					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CTCCTGGGGCGATCTGTAAAT	0.552											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	18					0	0	0	0	A	45410265	G	A	45410265	3	1	328	1	0	0	0	0	1	0	0	0	4838	1058	37	1	465	1	DUOXA1	15	45410265	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1589865	45410265	57121127	1861	60075											
DUOX1	53905	broad.mit.edu	37	chr15	45436378	45436378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaggtcaacttcgtcctgtCcagcaaccgtggacgccgca	9	7	11	14	4	1	0	1	0	0	0	4	2	3	1	4	2	3	2	4	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:45436378C>T	ENST00000321429.4	+	18	2488	c.2081C>T	c.(2080-2082)tCc>tTc	p.S694F	DUOX1_ENST00000389037.3_Missense_Mutation_p.S694F|DUOX1_ENST00000561166.1_Missense_Mutation_p.S340F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	694					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTCGTCCTGTCCAGCAACCGT	0.612													25	36					0	0	0	0	T	45436378	C	T	45436378	3	4	328	1	0	0	0	0	1	0	0	0	4836	855	30	2	2143	2	DUOX1	15	45436378	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	26113	45436378	57095014	1862	60076											
MYEF2	50804	broad.mit.edu	37	chr15	48470331	48470331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgcttctccgcctccgcgGggtgcggctctcgccgcggc	0	8	15	18	7	2	0	0	0	2	0	5	0	3	0	4	4	2	3	4	4	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:48470331G>A	ENST00000324324.7	-	1	383	c.104C>T	c.(103-105)cCc>cTc	p.P35L	MYEF2_ENST00000267836.6_Missense_Mutation_p.P35L	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	35					transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CGCCTCCGCGGGGTGCGGCTC	0.716													3	4					0	0	0	0	A	48470331	G	A	48470331	3	1	328	1	0	0	0	0	1	0	0	0	10094	1232	43	4	1766	4	MYEF2	15	48470331	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3033953	48470331	54061061	1863	60077											
SLC12A1	6557	broad.mit.edu	37	chr15	48500321	48500321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcctgcttgagattcaCgagcaactcgcaaaggtaag	12	7	10	12	2	1	1	1	1	0	1	2	3	1	1	2	1	4	4	2	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:48500321C>T	ENST00000396577.3	+	2	620	c.405C>T	c.(403-405)caC>caT	p.H135H	SLC12A1_ENST00000558405.1_Silent_p.H135H|SLC12A1_ENST00000561031.1_Silent_p.H135H|SLC12A1_ENST00000330289.6_Silent_p.H135H|SLC12A1_ENST00000380993.3_Silent_p.H135H	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	135					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTGAGATTCACGAGCAACTCG	0.468													37	51					0	0	0	0	T	48500321	C	T	48500321	2	4	328	1	0	0	0	0	0	0	0	1	14470	535	19	1		1	SLC12A1	15	48500321	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	29990	48500321	54031071	1864	60078											
TRPM7	54822	broad.mit.edu	37	chr15	50923674	50923674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttcatctgacccaatatGgaaaacagtgatctatttaa	15	13	6	7	0	3	2	1	2	2	0	3	3	3	3	1	1	1	1	1	1	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:50923674G>A	ENST00000313478.7	-	10	1425	c.1144C>T	c.(1144-1146)Cat>Tat	p.H382Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.H382Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	382					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GACCCAATATGGAAAACAGTG	0.289													11	42					0	0	0	0	A	50923674	G	A	50923674	3	1	328	1	0	0	0	0	1	0	0	0	16686	1348	47	4	4573	4	TRPM7	15	50923674	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2423353	50923674	51607718	1865	60079											
BCL2L10	10017	broad.mit.edu	37	chr15	52404618	52404618	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcagcgtccctgcgaaGgtcacgagcgtcaccactct	8	7	10	16	4	3	0	2	0	1	0	5	2	5	0	3	1	4	1	3	1	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:52404618G>T	ENST00000260442.3	-	1	354	c.306C>A	c.(304-306)acC>acA	p.T102T	BCL2L10_ENST00000561198.1_Silent_p.T102T	NM_020396.2	NP_065129.1	Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	92					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		TCCCTGCGAAGGTCACGAGCG	0.701													16	19					0.006122	0.00613118	1	0	T	52404618	G	T	52404618	2	4	328	1	0	0	0	0	0	0	0	1	1372	987	35	4		4	BCL2L10	15	52404618	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1480944	52404618	50126774	1866	60080											
MYO5C	55930	broad.mit.edu	37	chr15	52517151	52517151	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagttctccatcctcattTaaatgttccagatcttccac	11	14	3	13	0	3	1	1	0	2	1	7	1	6	1	4	0	0	2	4	0	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:52517151T>G	ENST00000261839.7	-	28	3554	c.3393A>C	c.(3391-3393)ttA>ttC	p.L1131F		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1131						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATCCTCATTTAAATGTTCCA	0.338													24	31					0	0	0	0	G	52517151	T	G	52517151	3	3	328	1	0	0	0	0	1	0	0	0	10150	1751	61	5	1891	5	MYO5C	15	52517151	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	112533	52517151	50014241	1867	60081											
UNC13C	440279	broad.mit.edu	37	chr15	54792341	54792341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgtcaatggaattccttCatggagcactgggaagagac	12	10	12	7	0	2	1	2	0	0	1	3	5	3	4	1	3	1	1	1	3	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:54792341C>T	ENST00000545554.1	+	20	5125	c.5125C>T	c.(5125-5127)Cat>Tat	p.H1709Y	UNC13C_ENST00000260323.11_Missense_Mutation_p.H1709Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.H1707Y			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1709	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAATTCCTTCATGGAGCACT	0.348													7	12					0	0	0	0	T	54792341	C	T	54792341	3	4	328	1	0	0	0	0	1	0	0	0	17082	826	29	2	5199	2	UNC13C	15	54792341	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2275190	54792341	47739051	1868	60082											
UNC13C	440279	broad.mit.edu	37	chr15	54804025	54804025	+	Silent	SNP	G	G	A																															tttgaatccatgggagggaaGgaggtgggtatctttttctc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:54804025G>A	ENST00000545554.1	+	23	5454	c.5454G>A	c.(5452-5454)aaG>aaA	p.K1818K	UNC13C_ENST00000260323.11_Silent_p.K1818K|UNC13C_ENST00000537900.1_Silent_p.K1816K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1818					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGGAGGGAAGGAGGTGGGTA	0.343													6	5					0	0	0	0	A	54804025	G	A	54804025	2	1	328	1	0	0	0	0	0	0	0	1	17082	991	35	4		4	UNC13C	15	54804025	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	11684	54804025	47727367	1869	60083	654	2									
UNC13C	440279	broad.mit.edu	37	chr15	54804026	54804026	+	Missense_Mutation	SNP	G	G	A																															ttgaatccatgggagggaagGaggtgggtatctttttctcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:54804026G>A	ENST00000545554.1	+	23	5455	c.5455G>A	c.(5455-5457)Gag>Aag	p.E1819K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E1819K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1817K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1819					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGAGGGAAGGAGGTGGGTAT	0.348													6	5					0	0	0	0	A	54804026	G	A	54804026	3	1	328	1	0	0	0	0	1	0	0	0	17082	1175	41	2	5541	2	UNC13C	15	54804026	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	54804026	47727366	1870	60084	654	2									
ADAM10	102	broad.mit.edu	37	chr15	58913713	58913713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgcattttcttccctctgGttgatttgcatcgaagcagc	6	17	8	10	1	2	1	0	1	2	0	4	2	3	1	1	1	4	4	1	1	1	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:58913713G>A	ENST00000260408.3	-	11	1911	c.1468C>T	c.(1468-1470)Cca>Tca	p.P490S	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.P189S|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	490	Disintegrin.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CTTCCCTCTGGTTGATTTGCA	0.398													69	79					0	0	0	0	A	58913713	G	A	58913713	3	1	328	1	0	0	0	0	1	0	0	0	234	1261	44	4	802	4	ADAM10	15	58913713	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4109687	58913713	43617679	1871	60085											
RNF111	54778	broad.mit.edu	37	chr15	59359174	59359174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catactccccacccagctgtCccagtttctccttcctttag	6	13	4	18	0	1	0	0	0	1	0	5	0	4	0	6	0	2	2	6	0	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:59359174C>T	ENST00000348370.4	+	6	2011	c.1578C>T	c.(1576-1578)gtC>gtT	p.V526V	RNF111_ENST00000557998.1_Silent_p.V526V|RNF111_ENST00000561186.1_Silent_p.V526V|RNF111_ENST00000559209.1_Silent_p.V526V|RNF111_ENST00000434298.1_Silent_p.V526V	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	526					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACCCAGCTGTCCCAGTTTCTC	0.488													36	56					0	0	0	0	T	59359174	C	T	59359174	2	4	328	1	0	0	0	0	0	0	0	1	13510	842	30	2		2	RNF111	15	59359174	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	445461	59359174	43172218	1872	60086											
TLN2	83660	broad.mit.edu	37	chr15	62978840	62978840	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttggtatctcctgtttcagGagaagatgaaaggcaagaac	13	10	11	7	0	2	4	1	1	1	3	3	5	2	4	1	3	1	3	1	3	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:62978840G>A	ENST00000561311.1	+	11	1188	c.957_splice	c.e11-1	p.E320_splice	TLN2_ENST00000306829.6_Splice_Site_p.E320_splice|RP11-625H11.2_ENST00000559589.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	320	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCTGTTTCAGGAGAAGATGAA	0.493													7	8					0	0	0	0	A	62978840	G	A	62978840	5	1	328	1	0	0	0	0	0	0	1	0	16042	1188	41	2	992	2	TLN2	15	62978840	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3619666	62978840	39552552	1873	60087											
TLN2	83660	broad.mit.edu	37	chr15	63068995	63068995	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacgccatcacagaggcCgcccagttgatgaaggaagc	12	5	12	12	2	1	4	1	3	0	1	1	5	1	5	3	2	1	1	3	2	2	1	rs145072613	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:63068995C>T	ENST00000561311.1	+	42	5630	c.5400C>T	c.(5398-5400)gcC>gcT	p.A1800A	TLN2_ENST00000306829.6_Silent_p.A1800A|TLN2_ENST00000472902.1_Silent_p.A193A			Q9Y4G6	TLN2_HUMAN	talin 2	1800					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCACAGAGGCCGCCCAGTTGA	0.537													8	30					0	0	0	0	T	63068995	C	T	63068995	2	4	328	1	0	0	0	0	0	0	0	1	16042	639	23	1		1	TLN2	15	63068995	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	90155	63068995	39462397	1874	60088											
KIAA0101	9768	broad.mit.edu	37	chr15	64669077	64669077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagttgggcgcacgcaaacgGggttccctcctgcatattta	8	10	12	11	3	0	0	0	0	0	0	2	1	2	0	2	3	2	5	2	3	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:64669077G>A	ENST00000300035.4	-	3	293	c.155C>T	c.(154-156)cCc>cTc	p.P52L	KIAA0101_ENST00000558008.1_Missense_Mutation_p.P52L|KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000560234.1_Missense_Mutation_p.P53S|KIAA0101_ENST00000559519.1_Missense_Mutation_p.P25L	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN	KIAA0101	52						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						CACGCAAACGGGGTTCCCTCC	0.378													17	31					0	0	0	0	A	64669077	G	A	64669077	3	1	328	1	0	0	0	0	1	0	0	0	8206	1232	43	4	213	4	KIAA0101	15	64669077	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1600082	64669077	37862315	1875	60089											
MTFMT	123263	broad.mit.edu	37	chr15	65297257	65297257	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctggaataagagcctGtcccgttaattttggatctg	9	14	10	8	1	1	2	0	1	1	1	3	4	3	4	3	2	1	1	3	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:65297257G>A	ENST00000220058.4	-	8	923	c.910C>T	c.(910-912)Cag>Tag	p.Q304*		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	304						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	ATAAGAGCCTGTCCCGTTAAT	0.299													21	22					0	0	0	0	A	65297257	G	A	65297257	4	1	328	1	0	0	0	0	0	1	0	0	9994	1386	48	4	267	4	MTFMT	15	65297257	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	628180	65297257	37234135	1876	60090											
IGDCC3	9543	broad.mit.edu	37	chr15	65667545	65667545	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccggctccagcctgaagTgacggatcatcaaggaccca	10	6	10	15	2	2	2	2	2	0	0	4	4	4	4	4	3	1	1	4	3	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:65667545T>G	ENST00000327987.4	-	2	550	c.299A>C	c.(298-300)cAc>cCc	p.H100P		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	100	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCCTGAAGTGACGGATCAT	0.607													21	40					0	0	0	0	G	65667545	T	G	65667545	3	3	328	1	0	0	0	0	1	0	0	0	7621	1696	59	5	2197	5	IGDCC3	15	65667545	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	370288	65667545	36863847	1877	60091											
MEGF11	84465	broad.mit.edu	37	chr15	66257437	66257437	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactggaagccgaaggacccGaaggggcactcctcttggca	10	5	13	13	2	1	0	0	0	1	0	2	4	2	2	3	5	1	2	3	5	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:66257437G>A	ENST00000409699.2	-	9	1093	c.921C>T	c.(919-921)ttC>ttT	p.F307F	MEGF11_ENST00000288745.3_Silent_p.F232F|MEGF11_ENST00000360698.4_Silent_p.F307F|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Silent_p.F307F|MEGF11_ENST00000395625.2_Silent_p.F232F			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	307						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CGAAGGACCCGAAGGGGCACT	0.627													4	6					0	0	0	0	A	66257437	G	A	66257437	2	1	328	1	0	0	0	0	0	0	0	1	9530	1049	37	1		1	MEGF11	15	66257437	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	589892	66257437	36273955	1878	60092											
SNAPC5	10302	broad.mit.edu	37	chr15	66787717	66787717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacagcatctcatcccctCttctagaactgatcattgat	12	12	5	12	0	4	4	2	2	3	2	6	4	5	4	2	0	2	1	2	0	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:66787717C>T	ENST00000316634.5	-	2	212	c.131G>A	c.(130-132)aGa>aAa	p.R44K	SNAPC5_ENST00000563480.2_Missense_Mutation_p.R44K|SNAPC5_ENST00000395589.2_Missense_Mutation_p.R44K|SNAPC5_ENST00000307979.7_Intron|SNAPC5_ENST00000566658.1_Intron			O75971	SNPC5_HUMAN	small nuclear RNA activating complex, polypeptide 5, 19kDa	44					transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)	2						CTCATCCCCTCTTCTAGAACT	0.433													36	54					0	0	0	0	T	66787717	C	T	66787717	3	4	328	1	0	0	0	0	1	0	0	0	14926	913	32	2	173	2	SNAPC5	15	66787717	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	530280	66787717	35743675	1879	60093											
IQCH	64799	broad.mit.edu	37	chr15	67555493	67555493	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatttaaatgttgtaaacCagaatgtattaacgacttct	15	15	6	5	1	1	1	0	0	1	1	1	2	1	1	1	0	2	4	1	0	8	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:67555493C>T	ENST00000335894.4	+	3	274	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	IQCH_ENST00000512104.1_Nonsense_Mutation_p.Q70*|IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	70										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGTTGTAAACCAGAATGTATT	0.318													18	23					0	0	0	0	T	67555493	C	T	67555493	4	4	328	1	0	0	0	0	0	1	0	0	7864	595	21	4	218	4	IQCH	15	67555493	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	767776	67555493	34975899	1880	60094											
ITGA11	22801	broad.mit.edu	37	chr15	68624319	68624319	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaatcctggttgaggtctcGaactgaggcaatggaggacc	10	8	15	8	1	1	2	0	2	1	0	3	6	2	5	2	6	1	2	2	6	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:68624319G>A	ENST00000423218.2	-	14	1743	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	ITGA11_ENST00000315757.7_Nonsense_Mutation_p.R550*			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	550					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TTGAGGTCTCGAACTGAGGCA	0.537													10	14					0	0	0	0	A	68624319	G	A	68624319	4	1	328	1	0	0	0	0	0	1	0	0	7927	1066	37	1	1986	1	ITGA11	15	68624319	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1068826	68624319	33907073	1881	60095											
TLE3	7090	broad.mit.edu	37	chr15	70358436	70358436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcgcccagtgccagcagcCcggagctgctccctgtcact	5	6	13	17	2	1	0	1	0	0	0	2	1	2	1	4	2	5	3	4	2	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:70358436C>T	ENST00000558939.1	-	7	1871	c.494G>A	c.(493-495)gGg>gAg	p.G165E	TLE3_ENST00000317509.8_Missense_Mutation_p.G165E|TLE3_ENST00000559929.1_Missense_Mutation_p.G175E|TLE3_ENST00000558379.1_Missense_Mutation_p.G165E|TLE3_ENST00000451782.2_Missense_Mutation_p.G165E|TLE3_ENST00000539550.1_Missense_Mutation_p.G109E|TLE3_ENST00000442299.2_Missense_Mutation_p.G165E|TLE3_ENST00000560939.1_Missense_Mutation_p.G170E|TLE3_ENST00000560589.1_Missense_Mutation_p.G109E|TLE3_ENST00000557907.1_Missense_Mutation_p.G165E|TLE3_ENST00000558201.1_Missense_Mutation_p.G171E|TLE3_ENST00000559048.1_Missense_Mutation_p.G170E|TLE3_ENST00000440567.3_Missense_Mutation_p.G158E|TLE3_ENST00000557997.1_Missense_Mutation_p.G165E|TLE3_ENST00000559191.1_Intron			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	165	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCCAGCAGCCCGGAGCTGCT	0.672													11	26					0	0	0	0	T	70358436	C	T	70358436	3	4	328	1	0	0	0	0	1	0	0	0	16034	623	22	4	1880	4	TLE3	15	70358436	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1734117	70358436	32172956	1882	60096											
LRRC49	54839	broad.mit.edu	37	chr15	71329518	71329518	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctttactgtctttctacagGaaaaagcaatttcggtatct	11	16	6	8	1	4	0	0	0	4	0	5	1	4	1	0	2	3	2	0	2	6	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:71329518G>A	ENST00000260382.5	+	15	1964	c.1703_splice	c.e15-1	p.R568_splice	LRRC49_ENST00000560158.2_Splice_Site_p.R256_splice|LRRC49_ENST00000443425.2_Splice_Site_p.R524_splice|LRRC49_ENST00000560369.1_Splice_Site_p.R573_splice|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Splice_Site_p.R558_splice|LRRC49_ENST00000560691.1_Splice_Site_p.R274_splice	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	568						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CTTTCTACAGGAAAAAGCAAT	0.308													32	63					0	0	0	0	A	71329518	G	A	71329518	5	1	328	1	0	0	0	0	0	0	1	0	9070	1188	41	2	1762	2	LRRC49	15	71329518	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	971082	71329518	31201874	1883	60097											
MYO9A	4649	broad.mit.edu	37	chr15	72191138	72191138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actctggctttgggctctctCctgctgcttgtttggtgact	2	17	11	11	0	2	1	0	1	2	0	4	1	3	1	1	3	2	5	1	3	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:72191138C>T	ENST00000356056.5	-	25	4178	c.3706G>A	c.(3706-3708)Gag>Aag	p.E1236K	MYO9A_ENST00000444904.1_Missense_Mutation_p.E1217K|MYO9A_ENST00000566885.1_Missense_Mutation_p.E856K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1236K|MYO9A_ENST00000424560.1_Missense_Mutation_p.E1236K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1236	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGGCTCTCTCCTGCTGCTTG	0.458													64	112					0	0	0	0	T	72191138	C	T	72191138	3	4	328	1	0	0	0	0	1	0	0	0	10154	864	30	2	4012	2	MYO9A	15	72191138	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	861620	72191138	30340254	1884	60098											
TMEM202	338949	broad.mit.edu	37	chr15	72690714	72690714	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactttccacagtcctgaggTtcccaaaataaaggggaacc	13	8	9	11	0	0	1	0	1	0	0	3	3	3	2	4	3	1	1	4	3	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:72690714T>C	ENST00000341689.3	+	1	101	c.47T>C	c.(46-48)gTt>gCt	p.V16A	TMEM202_ENST00000567679.1_Missense_Mutation_p.V16A	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	16						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGTCCTGAGGTTCCCAAAATA	0.453													8	18					0	0	0	0	C	72690714	T	C	72690714	3	2	328	1	0	0	0	0	1	0	0	0	16221	1725	60	5	49	5	TMEM202	15	72690714	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	499576	72690714	29840678	1885	60099											
TMEM202	338949	broad.mit.edu	37	chr15	72691193	72691193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggccttgagctctacgcagGactctggaccttatgcaacc	8	10	10	13	1	2	1	0	1	2	0	2	3	2	3	3	3	4	3	3	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:72691193G>A	ENST00000341689.3	+	2	335	c.281G>A	c.(280-282)gGa>gAa	p.G94E	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	94						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTCTACGCAGGACTCTGGACC	0.537													39	66					0	0	0	0	A	72691193	G	A	72691193	3	1	328	1	0	0	0	0	1	0	0	0	16221	1174	41	2	287	2	TMEM202	15	72691193	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	479	72691193	29840199	1886	60100											
C15orf59	388135	broad.mit.edu	37	chr15	74032482	74032482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctctgtatgggcaggctCagggggcaagcccacttctt	6	9	14	12	0	3	0	1	0	2	0	3	0	3	0	2	5	1	4	2	5	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:74032482C>T	ENST00000569673.1	-	3	1862	c.658G>A	c.(658-660)Gag>Aag	p.E220K	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.E220K			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	220										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGGCAGGCTCAGGGGGCAAG	0.637													15	22					0	0	0	0	T	74032482	C	T	74032482	3	4	328	1	0	0	0	0	1	0	0	0	1819	835	29	2	227	2	C15orf59	15	74032482	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1341289	74032482	28498910	1887	60101											
ISLR	3671	broad.mit.edu	37	chr15	74467469	74467469	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagatccgcacggtggcCgccggagccctggcctctct	6	7	13	15	4	1	1	0	1	1	1	3	3	2	2	5	4	1	1	5	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:74467469C>T	ENST00000249842.3	+	2	627	c.270C>T	c.(268-270)gcC>gcT	p.A90A	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.A90A	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	90					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCACGGTGGCCGCCGGAGCCC	0.642													20	35					0	0	0	0	T	74467469	C	T	74467469	2	4	328	1	0	0	0	0	0	0	0	1	7911	639	23	1		1	ISLR	15	74467469	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	434987	74467469	28063923	1888	60102											
CCDC33	80125	broad.mit.edu	37	chr15	74536395	74536395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgagatcggtcacctgtctCcctctaagaaggagaccatc	10	9	9	13	1	3	3	1	1	2	3	6	5	3	3	3	2	0	0	3	2	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:74536395C>T	ENST00000321288.5	+	4	700	c.700C>T	c.(700-702)Ccc>Tcc	p.P234S	CCDC33_ENST00000398814.3_Missense_Mutation_p.P31S			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	234	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCACCTGTCTCCCTCTAAGAA	0.587													42	47					0	0	0	0	T	74536395	C	T	74536395	3	4	328	1	0	0	0	0	1	0	0	0	2832	855	30	2	97	2	CCDC33	15	74536395	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	68926	74536395	27994997	1889	60103											
CYP11A1	1583	broad.mit.edu	37	chr15	74631110	74631110	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggccacttgcaccagtgtCtggggcaaggtgatcagagg	9	8	15	9	0	2	2	1	1	1	1	2	2	2	2	2	5	1	2	2	5	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:74631110C>T	ENST00000358632.4	-	8	1458		c.e8-1		CYP11A1_ENST00000419019.2_Splice_Site|CYP11A1_ENST00000268053.6_Splice_Site	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCACCAGTGTCTGGGGCAAGG	0.582													16	22					0	0	0	0	T	74631110	C	T	74631110	5	4	328	1	0	0	0	0	0	0	1	0	4176	927	32	2	337	2	CYP11A1	15	74631110	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	94715	74631110	27900282	1890	60104											
CYP11A1	1583	broad.mit.edu	37	chr15	74636150	74636150	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttactgaaaatcacgtccCatgcagccacatggtccttc	10	11	6	14	1	1	1	1	1	0	0	4	1	3	1	3	1	3	1	3	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:74636150C>T	ENST00000358632.4	-	4	1030	c.335G>A	c.(334-336)tGg>tAg	p.W112*	CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Nonsense_Mutation_p.W112*|CYP11A1_ENST00000268053.6_Nonsense_Mutation_p.W270*	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	270					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AATCACGTCCCATGCAGCCAC	0.577													89	126					0	0	0	0	T	74636150	C	T	74636150	4	4	328	1	0	0	0	0	0	1	0	0	4176	595	21	4	780	4	CYP11A1	15	74636150	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5040	74636150	27895242	1891	60105											
C15orf39	56905	broad.mit.edu	37	chr15	75499396	75499396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcccaggcaccttacattcCcccactggggctggacgctt	7	8	10	16	1	0	0	0	0	0	0	1	1	1	1	4	4	2	3	4	4	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:75499396C>T	ENST00000360639.2	+	2	1327	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	C15orf39_ENST00000567617.1_Missense_Mutation_p.P336L|C15orf39_ENST00000394987.4_Missense_Mutation_p.P336L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	336										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCTTACATTCCCCCACTGGGG	0.687													24	61					0	0	0	0	T	75499396	C	T	75499396	3	4	328	1	0	0	0	0	1	0	0	0	1805	623	22	4	1009	4	C15orf39	15	75499396	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	863246	75499396	27031996	1892	60106											
SIN3A	25942	broad.mit.edu	37	chr15	75693073	75693073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctagggaaggccttacctCtttacagagaggagtccgtc	9	10	12	10	1	1	1	0	0	1	1	3	4	2	3	3	3	3	1	3	3	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:75693073C>T	ENST00000394947.3	-	11	2049	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	SIN3A_ENST00000360439.4_Missense_Mutation_p.E579K|SIN3A_ENST00000394949.4_Missense_Mutation_p.E579K	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	579	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGCCTTACCTCTTTACAGAGA	0.463													9	14					0	0	0	0	T	75693073	C	T	75693073	3	4	328	1	0	0	0	0	1	0	0	0	14413	922	32	2	2130	2	SIN3A	15	75693073	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	193677	75693073	26838319	1893	60107											
CSPG4	1464	broad.mit.edu	37	chr15	75979625	75979625	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaactcctcacctccagctGgtcccttctgatctcagctg	6	11	6	18	0	3	1	2	1	2	0	7	1	6	1	5	1	3	2	5	1	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:75979625G>A	ENST00000308508.5	-	3	3873	c.3781C>T	c.(3781-3783)Cag>Tag	p.Q1261*		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1261	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACCTCCAGCTGGTCCCTTCTG	0.612													63	69					0	0	0	0	A	75979625	G	A	75979625	4	1	328	1	0	0	0	0	0	1	0	0	3992	1357	47	4	3219	4	CSPG4	15	75979625	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	286552	75979625	26551767	1894	60108											
CSPG4	1464	broad.mit.edu	37	chr15	75981041	75981041	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtgtgcagtggctccaGccgcagcatccacacagtgg	8	7	13	13	1	0	1	0	1	0	0	2	1	2	1	3	2	3	4	3	2	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:75981041G>A	ENST00000308508.5	-	3	2457	c.2365C>T	c.(2365-2367)Ctg>Ttg	p.L789L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	789	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGTGGCTCCAGCCGCAGCATC	0.642													26	34					0	0	0	0	A	75981041	G	A	75981041	2	1	328	1	0	0	0	0	0	0	0	1	3992	962	34	4		4	CSPG4	15	75981041	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1416	75981041	26550351	1895	60109											
NRG4	145957	broad.mit.edu	37	chr15	76254278	76254278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctggagcctgggagaaaaaCctcttcacaacgagctcctg	11	7	11	12	1	2	1	1	0	1	1	3	4	3	2	3	2	4	2	3	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:76254278C>T	ENST00000394907.3	-	4	323	c.142G>A	c.(142-144)Gtt>Att	p.V48I	NRG4_ENST00000535975.1_Missense_Mutation_p.V48I	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	48						extracellular region|integral to membrane|plasma membrane	growth factor activity			large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						GGGAGAAAAACCTCTTCACAA	0.388													37	61					0	0	0	0	T	76254278	C	T	76254278	3	4	328	1	0	0	0	0	1	0	0	0	10721	507	18	4	217	4	NRG4	15	76254278	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	273237	76254278	26277114	1896	60110											
KIAA1024	23251	broad.mit.edu	37	chr15	79749050	79749050	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttagcaaagaggtgaaaaaCcgcgccgcttccctggacag	12	6	12	11	3	0	2	0	1	0	1	1	3	1	3	3	2	2	3	3	2	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:79749050C>T	ENST00000305428.3	+	2	636	c.561C>T	c.(559-561)aaC>aaT	p.N187N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	187						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGGTGAAAAACCGCGCCGCTT	0.577													17	37					0	0	0	0	T	79749050	C	T	79749050	2	4	328	1	0	0	0	0	0	0	0	1	8256	506	18	4		4	KIAA1024	15	79749050	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3494772	79749050	22782342	1897	60111											
KIAA1024	23251	broad.mit.edu	37	chr15	79749651	79749651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtcctttttcaatagaaatCcctccgaggagaagctacac	12	10	8	11	1	1	2	1	0	0	2	4	4	4	2	3	2	2	1	3	2	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:79749651C>T	ENST00000305428.3	+	2	1237	c.1162C>T	c.(1162-1164)Ccc>Tcc	p.P388S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	388						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CAATAGAAATCCCTCCGAGGA	0.512													30	50					0	0	0	0	T	79749651	C	T	79749651	3	4	328	1	0	0	0	0	1	0	0	0	8256	855	30	2	1164	2	KIAA1024	15	79749651	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	601	79749651	22781741	1898	60112											
ZFAND6	54469	broad.mit.edu	37	chr15	80429936	80429936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatcagaaaagaaaatcCagtagttgttggtgaaaaga	20	8	10	3	0	1	4	1	1	0	3	2	5	2	4	1	1	0	3	1	1	9	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:80429936C>T	ENST00000261749.6	+	7	1015	c.593C>T	c.(592-594)cCa>cTa	p.P198L	ZFAND6_ENST00000558494.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000559157.1_Missense_Mutation_p.P186L|ZFAND6_ENST00000559775.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000559835.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000561060.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000558087.1_Missense_Mutation_p.P198L	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	198							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AAAGAAAATCCAGTAGTTGTT	0.353													7	18					0	0	0	0	T	80429936	C	T	80429936	3	4	328	1	0	0	0	0	1	0	0	0	17726	594	21	4	611	4	ZFAND6	15	80429936	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	680285	80429936	22101456	1899	60113											
FAH	2184	broad.mit.edu	37	chr15	80465430	80465430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttttgggaccactgtctctCcgtgggtggtgcccatggat	4	13	14	10	1	1	0	0	0	1	0	3	2	2	2	3	4	1	1	3	4	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:80465430C>T	ENST00000539156.1	+	8	2809	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	FAH_ENST00000261755.5_Missense_Mutation_p.P261S|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000407106.1_Missense_Mutation_p.P261S|FAH_ENST00000561421.1_Missense_Mutation_p.P261S			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	261					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACTGTCTCTCCGTGGGTGGT	0.577									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	82					0	0	0	0	T	80465430	C	T	80465430	3	4	328	1	0	0	0	0	1	0	0	0	5412	855	30	2	815	2	FAH	15	80465430	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	35494	80465430	22065962	1900	60114											
AP3B2	8120	broad.mit.edu	37	chr15	83334306	83334306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taagcaggtgggacagtgagCccagctggaagtggtcccgg	9	6	17	9	1	0	1	0	1	0	0	1	3	1	3	2	5	3	2	2	5	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:83334306C>T	ENST00000261722.3	-	16	2081	c.1874G>A	c.(1873-1875)gGc>gAc	p.G625D	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.G625D|AP3B2_ENST00000535348.1_Missense_Mutation_p.G593D	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	625					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGACAGTGAGCCCAGCTGGAA	0.612													34	51					0	0	0	0	T	83334306	C	T	83334306	3	4	328	1	0	0	0	0	1	0	0	0	746	739	26	4	1418	4	AP3B2	15	83334306	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2868876	83334306	19197086	1901	60115											
ZSCAN2	54993	broad.mit.edu	37	chr15	85147360	85147360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaagggcggcccccaggagGaggtgaccaggggaccacag	10	1	18	12	1	0	1	0	1	0	0	0	4	0	4	4	7	0	1	4	7	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:85147360G>A	ENST00000448803.2	+	2	494	c.202G>A	c.(202-204)Gag>Aag	p.E68K	ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E68K|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.E68K|ZSCAN2_ENST00000379358.3_Missense_Mutation_p.E68K|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.E68K|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E68K|ZSCAN2_ENST00000334141.3_Missense_Mutation_p.E68K|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.E68K	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	68	SCAN box.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCCCCAGGAGGAGGTGACCAG	0.642													9	17					0	0	0	0	A	85147360	G	A	85147360	3	1	328	1	0	0	0	0	1	0	0	0	18323	1175	41	2	204	2	ZSCAN2	15	85147360	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1813054	85147360	17384032	1902	60116											
ZNF592	9640	broad.mit.edu	37	chr15	85345185	85345185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccaccaaaaggcacaagtCcctttttcagtgcgcgaaat	12	10	7	12	2	1	0	1	0	0	0	3	1	3	0	3	1	1	1	3	1	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:85345185C>T	ENST00000299927.3	+	8	3387	c.3365C>T	c.(3364-3366)tCc>tTc	p.S1122F	ZNF592_ENST00000560079.2_Missense_Mutation_p.S1122F			Q92610	ZN592_HUMAN	zinc finger protein 592	1122					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGCACAAGTCCCTTTTTCAG	0.537													31	46					0	0	0	0	T	85345185	C	T	85345185	3	4	328	1	0	0	0	0	1	0	0	0	18117	855	30	2	3395	2	ZNF592	15	85345185	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	197825	85345185	17186207	1903	60117											
MFGE8	4240	broad.mit.edu	37	chr15	89453137	89453137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taaaccaccgttgtggcaggGgtttttggaacagatatctg	10	12	12	7	1	1	1	0	0	1	1	1	2	1	2	2	4	2	3	2	4	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:89453137G>A	ENST00000539437.1	-	3	203	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Missense_Mutation_p.P31S|MFGE8_ENST00000268150.8_Missense_Mutation_p.P31S|MFGE8_ENST00000566497.1_Missense_Mutation_p.P31S|MFGE8_ENST00000542878.1_Intron			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	31					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)					TTGTGGCAGGGGTTTTTGGAA	0.547													31	68					0	0	0	0	A	89453137	G	A	89453137	3	1	328	1	0	0	0	0	1	0	0	0	9589	1232	43	4	1100	4	MFGE8	15	89453137	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4107952	89453137	13078255	1904	60118											
BLM	641	broad.mit.edu	37	chr15	91308595	91308595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcactgttgtcatttctcCcttgagatcacttatcgtag	7	16	8	10	1	4	1	3	1	1	1	6	2	4	1	1	1	0	2	1	1	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:91308595C>T	ENST00000355112.3	+	9	2262	c.2144C>T	c.(2143-2145)cCc>cTc	p.P715L	BLM_ENST00000560509.1_Missense_Mutation_p.P715L|BLM_ENST00000560136.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	715	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GTCATTTCTCCCTTGAGATCA	0.378			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				28	32					0	0	0	0	T	91308595	C	T	91308595	3	4	328	1	0	0	0	0	1	0	0	0	1450	623	22	4	2174	4	BLM	15	91308595	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1855458	91308595	11222797	1905	60119											
MAN2A2	4122	broad.mit.edu	37	chr15	91448716	91448716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttgctttggggggccGgggtcagaagccagagctgc	6	8	17	10	1	1	2	1	0	0	2	1	2	1	2	3	5	4	3	3	5	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:91448716G>A	ENST00000360468.3	+	2	386	c.368G>A	c.(367-369)cGg>cAg	p.R123Q	MAN2A2_ENST00000559717.1_Missense_Mutation_p.R123Q	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	123					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TTGGGGGGCCGGGGTCAGAAG	0.632													15	19					0	0	0	0	A	91448716	G	A	91448716	3	1	328	1	0	0	0	0	1	0	0	0	9284	1116	39	1	374	1	MAN2A2	15	91448716	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	140121	91448716	11082676	1906	60120											
UNC45A	55898	broad.mit.edu	37	chr15	91490132	91490132	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagaaggacagcatccgcatCcgggcgctagtggtgagacg	10	5	16	10	4	0	2	0	1	0	2	2	5	2	3	2	3	1	3	2	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:91490132C>T	ENST00000394275.2	+	13	2278	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	UNC45A_ENST00000418476.2_Silent_p.I496I	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	496					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCATCCGCATCCGGGCGCTAG	0.637													16	43					0	0	0	0	T	91490132	C	T	91490132	2	4	328	1	0	0	0	0	0	0	0	1	17084	845	30	2		2	UNC45A	15	91490132	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	41416	91490132	11041260	1907	60121											
FAM174B	400451	broad.mit.edu	37	chr15	93162622	93162622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcttccaggtccagtcCttcacaccccaggttgcagc	7	8	11	15	0	1	0	1	0	0	0	4	1	4	0	5	3	2	3	5	3	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:93162622C>T	ENST00000555748.1	-	3	473	c.120G>A	c.(118-120)aaG>aaA	p.K40K	FAM174B_ENST00000327355.5_3'UTR|FAM174B_ENST00000555696.1_Silent_p.K40K|RP11-386M24.9_ENST00000607766.1_RNA|FAM174B_ENST00000555064.1_Silent_p.K40K|FAM174B_ENST00000553393.1_Intron			Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	0						integral to membrane				endometrium(2)|lung(1)	3						AGGTCCAGTCCTTCACACCCC	0.522													12	16					0	0	0	0	T	93162622	C	T	93162622	2	4	328	1	0	0	0	0	0	0	0	1	5537	696	24	4		4	FAM174B	15	93162622	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1672490	93162622	9368770	1908	60122											
CHD2	1106	broad.mit.edu	37	chr15	93486190	93486190	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcaagtggaagggttggtCttacatccacagcacatggg	11	9	12	9	0	2	0	1	0	1	0	3	1	3	1	1	4	2	2	1	4	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:93486190C>G	ENST00000394196.4	+	9	2012	c.944C>G	c.(943-945)tCt>tGt	p.S315C	CHD2_ENST00000536619.1_Missense_Mutation_p.S328C|CHD2_ENST00000420239.2_Missense_Mutation_p.S315C|CHD2_ENST00000557381.1_Missense_Mutation_p.S315C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	315	Chromo 1.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGGGTTGGTCTTACATCCAC	0.428													32	43					0	0	0	0	G	93486190	C	G	93486190	3	3	328	1	0	0	0	0	1	0	0	0	3354	913	32	2	974	2	CHD2	15	93486190	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	323568	93486190	9045202	1909	60123											
IGF1R	3480	broad.mit.edu	37	chr15	99456351	99456351	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacatggtggacgtggacctCccgcccaacaaggacgtgga	11	5	13	12	3	0	0	0	0	0	0	1	4	1	4	3	5	2	0	3	5	3	0	rs45481994		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:99456351C>T	ENST00000268035.6	+	8	2279	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	IGF1R_ENST00000558762.1_Silent_p.L556L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	556	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ACGTGGACCTCCCGCCCAACA	0.547													28	30					0	0	0	0	T	99456351	C	T	99456351	2	4	328	1	0	0	0	0	0	0	0	1	7624	842	30	2		2	IGF1R	15	99456351	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5970161	99456351	3075041	1910	60124											
SYNM	23336	broad.mit.edu	37	chr15	99671501	99671501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaggggcagggtgggcCggggagcgtttccgtggatg	6	6	22	7	3	0	1	0	0	0	1	1	4	1	3	2	7	1	2	2	7	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:99671501C>T	ENST00000336292.6	+	5	3053	c.2933C>T	c.(2932-2934)cCg>cTg	p.P978L	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.P693L|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.P978L	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	979	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CAGGGTGGGCCGGGGAGCGTT	0.632													3	11					0	0	0	0	T	99671501	C	T	99671501	3	4	328	1	0	0	0	0	1	0	0	0	15546	652	23	1	2949	1	SYNM	15	99671501	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	215150	99671501	2859891	1911	60125											
RGS11	8786	broad.mit.edu	37	chr16	320798	320798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcgctccatatcgaagctCctcacatgcctcccagaagc	9	8	7	17	2	1	1	1	0	0	1	5	2	4	1	4	0	4	2	4	0	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:320798C>T	ENST00000397770.3	-	14	1029	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	RGS11_ENST00000316163.5_Missense_Mutation_p.E317K|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Missense_Mutation_p.E327K			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	338	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TATCGAAGCTCCTCACATGCC	0.657													9	22					0	0	0	0	T	320798	C	T	320798	3	4	328	1	0	0	0	0	1	0	0	0	13377	864	30	2	407	2	RGS11	16	320798	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08		320798	90033955	1912	60126											
RGS11	8786	broad.mit.edu	37	chr16	320993	320993	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttctcaccactgaactcCtttcccagaaagtccatgaa	11	10	7	13	0	1	3	1	2	1	1	5	3	4	3	4	1	1	1	4	1	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:320993C>T	ENST00000397770.3	-	13	986	c.969G>A	c.(967-969)aaG>aaA	p.K323K	RGS11_ENST00000316163.5_Silent_p.K302K|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.K312K			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	323	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CACTGAACTCCTTTCCCAGAA	0.672													12	13					0	0	0	0	T	320993	C	T	320993	2	4	328	1	0	0	0	0	0	0	0	1	13377	680	24	4		4	RGS11	16	320993	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	195	320993	90033760	1913	60127											
AXIN1	8312	broad.mit.edu	37	chr16	396184	396184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgctgtaccgtctactggagGagaccctcggggcagctgtc	6	8	14	13	3	1	1	0	0	1	1	3	3	1	2	2	4	3	4	2	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:396184G>A	ENST00000262320.3	-	2	1213	c.842C>T	c.(841-843)tCc>tTc	p.S281F	AXIN1_ENST00000354866.3_Missense_Mutation_p.S281F|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	281	Interaction with TP53 (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TCTACTGGAGGAGACCCTCGG	0.607													32	26					0	0	0	0	A	396184	G	A	396184	3	1	328	1	0	0	0	0	1	0	0	0	1240	1174	41	2	1786	2	AXIN1	16	396184	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	75191	396184	89958569	1914	60128											
C16orf11	146325	broad.mit.edu	37	chr16	613869	613869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtcccctgctatccccCgcctgccccaggggagttcc	4	7	10	20	2	0	0	0	0	0	0	3	1	3	1	8	2	3	2	8	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:613869C>T	ENST00000409413.3	+	2	854	c.575C>T	c.(574-576)cCg>cTg	p.P192L		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	192	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						TGCTATCCCCCGCCTGCCCCA	0.706													3	4					0	0	0	0	T	613869	C	T	613869	3	4	328	1	0	0	0	0	1	0	0	0	1823	652	23	1	577	1	C16orf11	16	613869	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	217685	613869	89740884	1915	60129											
RHOT2	89941	broad.mit.edu	37	chr16	722105	722105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggtgacctacctggacgtCcggagctgccttggacacct	6	9	12	14	2	0	1	0	1	0	0	1	4	1	4	5	4	3	1	5	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:722105C>T	ENST00000315082.4	+	14	1233	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	373					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				ACCTGGACGTCCGGAGCTGCC	0.682													52	88					0	0	0	0	T	722105	C	T	722105	2	4	328	1	0	0	0	0	0	0	0	1	13427	842	30	2		2	RHOT2	16	722105	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	108236	722105	89632648	1916	60130											
STUB1	10273	broad.mit.edu	37	chr16	731314	731314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcagtgccagctggagatgGagagctatgatgaggccatc	10	7	16	8	0	0	4	0	2	0	2	1	6	0	4	2	4	3	3	2	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:731314G>A	ENST00000565677.1	+	2	713	c.106G>A	c.(106-108)Gag>Aag	p.E36K	STUB1_ENST00000564370.1_Missense_Mutation_p.E36K|STUB1_ENST00000566181.2_3'UTR|STUB1_ENST00000219548.4_Missense_Mutation_p.E108K			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	108					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				GCTGGAGATGGAGAGCTATGA	0.672													12	38					0	0	0	0	A	731314	G	A	731314	3	1	328	1	0	0	0	0	1	0	0	0	15425	1175	41	2	328	2	STUB1	16	731314	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	9209	731314	89623439	1917	60131											
NARFL	64428	broad.mit.edu	37	chr16	780842	780842	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgtcccttgcaggagctaCctgaggggcaggccatgacc	7	7	13	14	0	0	2	0	2	0	0	1	3	1	3	5	4	3	3	5	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:780842C>T	ENST00000540986.1	-	9	2322		c.e9+1		NARFL_ENST00000251588.2_Splice_Site|NARFL_ENST00000562862.1_Splice_Site|NARFL_ENST00000568545.1_Splice_Site			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like						iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GCAGGAGCTACCTGAGGGGCA	0.642													29	42					0	0	0	0	T	780842	C	T	780842	5	4	328	1	0	0	0	0	0	0	1	0	10238	521	18	4	245	4	NARFL	16	780842	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	49528	780842	89573911	1918	60132											
CRAMP1L	57585	broad.mit.edu	37	chr16	1716089	1716089	+	Missense_Mutation	SNP	G	G	A																															cgcagggagaggttcgttccGgcccatccagtcttctctga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:1716089G>A	ENST00000397412.3	+	15	2867	c.2768G>A	c.(2767-2769)cGg>cAg	p.R923Q	CRAMP1L_ENST00000262317.4_Missense_Mutation_p.R301Q|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.R923Q|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.R920Q			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	923						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GGTTCGTTCCGGCCCATCCAG	0.627													4	8					0	0	0	0	A	1716089	G	A	1716089	3	1	328	1	0	0	0	0	1	0	0	0	3876	1116	39	1	2822	1	CRAMP1L	16	1716089	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	935247	1716089	88638664	1919	60133	655	2									
CRAMP1L	57585	broad.mit.edu	37	chr16	1716090	1716090	+	Silent	SNP	G	G	A																															gcagggagaggttcgttccgGcccatccagtcttctctgac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:1716090G>A	ENST00000397412.3	+	15	2868	c.2769G>A	c.(2767-2769)cgG>cgA	p.R923R	CRAMP1L_ENST00000262317.4_Silent_p.R301R|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Silent_p.R923R|CRAMP1L_ENST00000436138.3_Silent_p.R920R			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	923						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GTTCGTTCCGGCCCATCCAGT	0.632													4	9					0	0	0	0	A	1716090	G	A	1716090	2	1	328	1	0	0	0	0	0	0	0	1	3876	1190	42	4		4	CRAMP1L	16	1716090	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	1716090	88638663	1920	60134	655	2									
TBL3	10607	broad.mit.edu	37	chr16	2025848	2025848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggttttggatgtccggtttCttgggcccgaggactcccac	5	12	13	11	2	1	0	0	0	1	0	3	3	3	2	3	5	0	2	3	5	0	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2025848C>T	ENST00000568546.1	+	11	1155	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	343					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TGTCCGGTTTCTTGGGCCCGA	0.607													49	62					0	0	0	0	T	2025848	C	T	2025848	3	4	328	1	0	0	0	0	1	0	0	0	15737	913	32	2	1069	2	TBL3	16	2025848	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	309758	2025848	88328905	1921	60135											
RAB26	25837	broad.mit.edu	37	chr16	2201701	2201701	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcctgtcgctgcagatgtgGgacacagctggtcaggagcg	7	8	16	10	2	1	1	1	0	0	1	2	3	1	3	1	3	4	3	1	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2201701G>A	ENST00000210187.6	+	4	514	c.354G>A	c.(352-354)tgG>tgA	p.W118*	RAB26_ENST00000541451.1_Nonsense_Mutation_p.W52*	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	118					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						TGCAGATGTGGGACACAGCTG	0.632													18	24					0	0	0	0	A	2201701	G	A	2201701	4	1	328	1	0	0	0	0	0	1	0	0	12995	1241	43	4	368	4	RAB26	16	2201701	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	175853	2201701	88153052	1922	60136											
MLST8	64223	broad.mit.edu	37	chr16	2256574	2256574	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctacgacggcgtcaacaaGaacatcgcgtctgtgggctt	10	8	12	11	5	2	1	1	0	1	1	3	2	2	1	0	2	4	2	0	2	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2256574G>A	ENST00000569417.1	+	4	612	c.258G>A	c.(256-258)aaG>aaA	p.K86K	MLST8_ENST00000565250.1_Silent_p.K86K|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000382450.4_Silent_p.K85K|MLST8_ENST00000564088.1_Silent_p.K86K|MLST8_ENST00000397124.1_Silent_p.K86K|MLST8_ENST00000301725.7_Silent_p.K105K|MLST8_ENST00000301724.10_Silent_p.K86K	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	86					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	p.K86N(3)		large_intestine(3)|lung(2)|skin(1)	6						GCGTCAACAAGAACATCGCGT	0.582													76	116					0	0	0	0	A	2256574	G	A	2256574	2	1	328	1	0	0	0	0	0	0	0	1	9703	933	33	2		2	MLST8	16	2256574	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	54873	2256574	88098179	1923	60137											
ABCA3	21	broad.mit.edu	37	chr16	2369821	2369821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagcatgctgcacggccaGgaagccttcccggatgtacc	9	6	11	15	2	0	0	0	0	0	0	1	2	1	2	4	3	5	4	4	3	2	2	rs139695699	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2369821G>A	ENST00000301732.5	-	8	1334	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	ABCA3_ENST00000382381.3_Silent_p.L212L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	212					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGCACGGCCAGGAAGCCTTCC	0.642													21	36					0	0	0	0	A	2369821	G	A	2369821	2	1	328	1	0	0	0	0	0	0	0	1	33	991	35	4		4	ABCA3	16	2369821	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	113247	2369821	87984932	1924	60138											
FLYWCH2	114984	broad.mit.edu	37	chr16	2946540	2946540	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcacagaagtcatcccGgcagcccccaggaagcccag	11	2	11	17	1	1	1	1	0	0	1	2	2	2	2	5	3	2	2	5	3	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2946540G>A	ENST00000396958.3	+	3	470	c.90G>A	c.(88-90)ccG>ccA	p.P30P	FLYWCH2_ENST00000293981.6_Silent_p.P30P|FLYWCH2_ENST00000572006.1_Silent_p.P30P	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	30										central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						AAGTCATCCCGGCAGCCCCCA	0.652													37	54					0	0	0	0	A	2946540	G	A	2946540	2	1	328	1	0	0	0	0	0	0	0	1	5993	1103	39	1		1	FLYWCH2	16	2946540	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	576719	2946540	87408213	1925	60139											
FLYWCH1	84256	broad.mit.edu	37	chr16	2979734	2979734	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcgagagtgtgaaggcCggccaggagccatcccccaa	10	3	16	12	2	0	2	0	1	0	1	1	5	1	3	5	4	1	0	5	4	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2979734C>T	ENST00000399667.2	+	3	411	c.48C>T	c.(46-48)gcC>gcT	p.A16A	FLYWCH1_ENST00000253928.9_Silent_p.A16A|FLYWCH1_ENST00000416288.2_Silent_p.A16A			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	16						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GTGTGAAGGCCGGCCAGGAGC	0.697													17	21					0	0	0	0	T	2979734	C	T	2979734	2	4	328	1	0	0	0	0	0	0	0	1	5992	639	23	1		1	FLYWCH1	16	2979734	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	33194	2979734	87375019	1926	60140											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140553	3140553	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcaccccaggactatcTgcctgggactctgctaagat	8	8	10	15	1	2	1	0	0	2	1	2	3	2	3	4	3	2	2	4	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:3140553T>G	ENST00000252463.2	-	5	804	c.717A>C	c.(715-717)gcA>gcC	p.A239A	ZSCAN10_ENST00000538082.2_Silent_p.A157A|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000572548.1_3'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	239					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CAGGACTATCTGCCTGGGACT	0.622													40	49					0	0	0	0	G	3140553	T	G	3140553	2	3	328	1	0	0	0	0	0	0	0	1	18320	1567	55	5		5	ZSCAN10	16	3140553	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	160819	3140553	87214200	1927	60141											
NLRC3	197358	broad.mit.edu	37	chr16	3606980	3606980	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggccccttgtggtccaatGgagttaccgcggaggctgaa	7	10	14	10	2	0	1	0	1	0	0	1	3	1	3	4	5	1	2	4	5	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:3606980G>A	ENST00000301749.7	-	0	2520				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGTCCAATGGAGTTACCGC	0.552													15	21					0	0	0	0	A	3606980	G	A	3606980	1	1	328	0	1	0	0	0	0	0	0	0	10538	1335	47	4		4	NLRC3	16	3606980	RNA	SNP	G	TCGA-CV-7568-01A-11D-2229-08	466427	3606980	86747773	1928	60142											
CREBBP	1387	broad.mit.edu	37	chr16	3781357	3781357	+	Missense_Mutation	SNP	G	G	A																															ccagtgcttgtctctggcgaGggtgaggaaggcgtcgcgcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:3781357G>A	ENST00000262367.5	-	30	5817	c.5008C>T	c.(5008-5010)Ctc>Ttc	p.L1670F	CREBBP_ENST00000382070.3_Missense_Mutation_p.L1632F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1670	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTCTGGCGAGGGTGAGGAAG	0.662			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						5	10					0	0	0	0	A	3781357	G	A	3781357	3	1	328	1	0	0	0	0	1	0	0	0	3891	1000	35	4	2328	4	CREBBP	16	3781357	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	174377	3781357	86573396	1929	60143	656	2									
CREBBP	1387	broad.mit.edu	37	chr16	3781358	3781358	+	Silent	SNP	G	G	A																															cagtgcttgtctctggcgagGgtgaggaaggcgtcgcgccc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:3781358G>A	ENST00000262367.5	-	30	5816	c.5007C>T	c.(5005-5007)acC>acT	p.T1669T	CREBBP_ENST00000382070.3_Silent_p.T1631T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1669	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTCTGGCGAGGGTGAGGAAGG	0.662			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						5	10					0	0	0	0	A	3781358	G	A	3781358	2	1	328	1	0	0	0	0	0	0	0	1	3891	1219	43	4		4	CREBBP	16	3781358	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	3781358	86573395	1930	60144	656	2									
GLYR1	84656	broad.mit.edu	37	chr16	4867664	4867664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaagttggagacgattcCacttcccatgagaccaaggc	12	8	10	11	1	0	2	0	1	0	2	2	5	2	2	3	2	1	2	3	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:4867664C>T	ENST00000321919.9	-	10	917	c.841G>A	c.(841-843)Gga>Aga	p.G281R	GLYR1_ENST00000436648.5_Missense_Mutation_p.G200R|GLYR1_ENST00000591451.1_Missense_Mutation_p.G281R|GLYR1_ENST00000381983.3_Missense_Mutation_p.G264R	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	281					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GAGACGATTCCACTTCCCATG	0.502													48	63					0	0	0	0	T	4867664	C	T	4867664	3	4	328	1	0	0	0	0	1	0	0	0	6534	603	21	4	848	4	GLYR1	16	4867664	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1086306	4867664	85487089	1931	60145											
CIITA	4261	broad.mit.edu	37	chr16	11000703	11000703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgactttgtcttctctgtcCcctgccattgcttgaaccgt	5	15	7	14	2	2	1	0	1	2	0	4	2	3	1	4	0	3	1	4	0	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:11000703C>T	ENST00000324288.8	+	11	1487	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	452	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTTCTCTGTCCCCTGCCATTG	0.632			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								44	77					0	0	0	0	T	11000703	C	T	11000703	3	4	328	1	0	0	0	0	1	0	0	0	3457	623	22	4	1396	4	CIITA	16	11000703	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6133039	11000703	79354050	1932	60146											
CIITA	4261	broad.mit.edu	37	chr16	11000927	11000927	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggagccctgctccctccgGgggctgctggccggcctttt	1	9	15	16	3	0	0	0	0	0	0	2	1	2	1	5	5	3	3	5	5	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:11000927G>A	ENST00000324288.8	+	11	1711	c.1578G>A	c.(1576-1578)cgG>cgA	p.R526R	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	526	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCTCCCTCCGGGGGCTGCTGG	0.687			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								22	34					0	0	0	0	A	11000927	G	A	11000927	2	1	328	1	0	0	0	0	0	0	0	1	3457	1219	43	4		4	CIITA	16	11000927	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	224	11000927	79353826	1933	60147											
CIITA	4261	broad.mit.edu	37	chr16	11001378	11001378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacatcaaagtaccctacagGaggaccagttcccatccgca	13	6	8	14	1	1	0	1	0	0	0	3	3	3	2	4	2	2	3	4	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:11001378G>A	ENST00000324288.8	+	11	2162	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	677	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TACCCTACAGGAGGACCAGTT	0.687			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								21	35					0	0	0	0	A	11001378	G	A	11001378	3	1	328	1	0	0	0	0	1	0	0	0	3457	1175	41	2	2071	2	CIITA	16	11001378	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	451	11001378	79353375	1934	60148											
CLEC16A	23274	broad.mit.edu	37	chr16	11118684	11118684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctcttttccagacccttCctggatatggtgtaccacgc	6	13	7	15	1	1	1	0	0	1	1	4	2	4	2	5	2	1	1	5	2	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:11118684C>T	ENST00000409790.1	+	13	1673	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Silent_p.F463F	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	481								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCAGACCCTTCCTGGATATGG	0.542													5	9					0	0	0	0	T	11118684	C	T	11118684	2	4	328	1	0	0	0	0	0	0	0	1	3530	854	30	2		2	CLEC16A	16	11118684	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	117306	11118684	79236069	1935	60149											
ZC3H7A	29066	broad.mit.edu	37	chr16	11845266	11845266	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtgctttgttgagcttcatCtttagggcatctcttctttc	4	19	8	10	1	4	1	1	1	3	0	6	1	4	1	0	1	2	4	0	1	1	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:11845266C>T	ENST00000396516.2	-	22	3020	c.2823G>A	c.(2821-2823)aaG>aaA	p.K941K	ZC3H7A_ENST00000575984.1_Silent_p.K137K|ZC3H7A_ENST00000355758.4_Silent_p.K941K			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	941						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TGAGCTTCATCTTTAGGGCAT	0.363													23	32					0	0	0	0	T	11845266	C	T	11845266	2	4	328	1	0	0	0	0	0	0	0	1	17667	912	32	2		2	ZC3H7A	16	11845266	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	726582	11845266	78509487	1936	60150											
MKL2	57496	broad.mit.edu	37	chr16	14341306	14341306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagctgctgctcccagtgtCcatccagggctcgagtgtca	6	10	11	14	1	2	0	2	0	0	0	6	1	5	0	3	1	3	4	3	1	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:14341306C>T	ENST00000571589.1	+	12	2361	c.2189C>T	c.(2188-2190)tCc>tTc	p.S730F	MKL2_ENST00000318282.5_Intron|MKL2_ENST00000341243.5_Missense_Mutation_p.S719F|MKL2_ENST00000574045.1_Intron	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	719	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCCCAGTGTCCATCCAGGGC	0.552													4	9					0	0	0	0	T	14341306	C	T	14341306	3	4	328	1	0	0	0	0	1	0	0	0	9671	870	30	2		2	MKL2	16	14341306	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2496040	14341306	76013447	1937	60151											
NTAN1	123803	broad.mit.edu	37	chr16	15134961	15134961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaaagtggttttcgttttCttcccggtcatttaattcta	7	19	8	7	2	3	0	1	0	2	0	5	1	4	1	1	3	0	2	1	3	3	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:15134961C>T	ENST00000287706.3	-	7	597	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	PDXDC1_ENST00000535621.2_Intron	NM_173474.2	NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	169						cytoplasm				endometrium(1)|large_intestine(4)|lung(3)	8						TTTTCGTTTTCTTCCCGGTCA	0.323													18	44					0	0	0	0	T	15134961	C	T	15134961	3	4	328	1	0	0	0	0	1	0	0	0	10766	922	32	2	443	2	NTAN1	16	15134961	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	793655	15134961	75219792	1938	60152											
KIAA0430	9665	broad.mit.edu	37	chr16	15690647	15690647	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccacggggtccttgctgAgcagtgactcggaggtttcc	5	12	13	11	2	0	2	0	2	0	0	4	3	3	3	3	4	2	3	3	4	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:15690647A>C	ENST00000396368.3	-	27	5338	c.5132T>G	c.(5131-5133)cTc>cGc	p.L1711R	KIAA0430_ENST00000602337.1_Missense_Mutation_p.L1708R|KIAA0430_ENST00000344181.3_Missense_Mutation_p.L1399R|KIAA0430_ENST00000540441.2_Missense_Mutation_p.L1546R|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L1708R|KIAA0430_ENST00000551742.1_Missense_Mutation_p.L1711R	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1710						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GTCCTTGCTGAGCAGTGACTC	0.537													21	38					0	0	0	0	C	15690647	A	C	15690647	3	2	328	1	0	0	0	0	1	0	0	0	8228	304	11	5	100	5	KIAA0430	16	15690647	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	555686	15690647	74664106	1939	60153											
KIAA0430	9665	broad.mit.edu	37	chr16	15715622	15715622	+	Silent	SNP	G	G	A																															agtgatttgctggcagccccGgtggcaagtgagaccaggat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:15715622G>A	ENST00000396368.3	-	12	2813	c.2607C>T	c.(2605-2607)acC>acT	p.T869T	KIAA0430_ENST00000602337.1_Silent_p.T866T|KIAA0430_ENST00000344181.3_Silent_p.T538T|KIAA0430_ENST00000540441.2_Silent_p.T704T|KIAA0430_ENST00000548025.1_Silent_p.T866T|KIAA0430_ENST00000551742.1_Silent_p.T869T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	868	RRM.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGCAGCCCCGGTGGCAAGTG	0.408													27	32					0	0	0	0	A	15715622	G	A	15715622	2	1	328	1	0	0	0	0	0	0	0	1	8228	1103	39	1		1	KIAA0430	16	15715622	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	24975	15715622	74639131	1940	60154	657	2									
KIAA0430	9665	broad.mit.edu	37	chr16	15715623	15715623	+	Missense_Mutation	SNP	G	G	A																															gtgatttgctggcagccccgGtggcaagtgagaccaggatc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:15715623G>A	ENST00000396368.3	-	12	2812	c.2606C>T	c.(2605-2607)aCc>aTc	p.T869I	KIAA0430_ENST00000602337.1_Missense_Mutation_p.T866I|KIAA0430_ENST00000344181.3_Missense_Mutation_p.T538I|KIAA0430_ENST00000540441.2_Missense_Mutation_p.T704I|KIAA0430_ENST00000548025.1_Missense_Mutation_p.T866I|KIAA0430_ENST00000551742.1_Missense_Mutation_p.T869I	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	868	RRM.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGCAGCCCCGGTGGCAAGTGA	0.413													26	33					0	0	0	0	A	15715623	G	A	15715623	3	1	328	1	0	0	0	0	1	0	0	0	8228	1261	44	4	2686	4	KIAA0430	16	15715623	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	15715623	74639130	1941	60155	657	2									
ABCC1	4363	broad.mit.edu	37	chr16	16215871	16215871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccggcagctgaagcgcctcGagtcggtcagccgctccccg	5	5	13	18	6	1	1	1	1	0	0	4	2	2	1	5	2	3	3	5	2	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:16215871G>A	ENST00000399408.2	+	25	3635	c.3460G>A	c.(3460-3462)Gag>Aag	p.E1154K	ABCC1_ENST00000399410.3_Missense_Mutation_p.E1144K|ABCC1_ENST00000351154.5_Missense_Mutation_p.E1085K|ABCC1_ENST00000349029.5_Missense_Mutation_p.E1029K|ABCC1_ENST00000345148.5_Missense_Mutation_p.E1144K|ABCC1_ENST00000346370.5_Missense_Mutation_p.E1088K			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1144	ABC transmembrane type-1 2.				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)	GAAGCGCCTCGAGTCGGTCAG	0.617													14	32					0	0	0	0	A	16215871	G	A	16215871	3	1	328	1	0	0	0	0	1	0	0	0	49	1059	37	1	3524	1	ABCC1	16	16215871	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	500248	16215871	74138882	1942	60156											
ABCC1	4363	broad.mit.edu	37	chr16	16218717	16218717	+	Missense_Mutation	SNP	C	C	T																															tgccctgtttgcggtgatctCcaggcacagcctcagtgctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:16218717C>T	ENST00000399408.2	+	26	3867	c.3692C>T	c.(3691-3693)tCc>tTc	p.S1231F	ABCC1_ENST00000399410.3_Missense_Mutation_p.S1221F|ABCC1_ENST00000351154.5_Missense_Mutation_p.S1162F|ABCC1_ENST00000349029.5_Missense_Mutation_p.S1106F|ABCC1_ENST00000345148.5_Missense_Mutation_p.S1221F|ABCC1_ENST00000346370.5_Missense_Mutation_p.S1165F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1221	ABC transmembrane type-1 2.				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)	GCGGTGATCTCCAGGCACAGC	0.552													22	40					0	0	0	0	T	16218717	C	T	16218717	3	4	328	1	0	0	0	0	1	0	0	0	49	855	30	2	3760	2	ABCC1	16	16218717	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2846	16218717	74136036	1943	60157	658	2									
ABCC1	4363	broad.mit.edu	37	chr16	16218718	16218718	+	Silent	SNP	C	C	T																															gccctgtttgcggtgatctcCaggcacagcctcagtgctgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:16218718C>T	ENST00000399408.2	+	26	3868	c.3693C>T	c.(3691-3693)tcC>tcT	p.S1231S	ABCC1_ENST00000399410.3_Silent_p.S1221S|ABCC1_ENST00000351154.5_Silent_p.S1162S|ABCC1_ENST00000349029.5_Silent_p.S1106S|ABCC1_ENST00000345148.5_Silent_p.S1221S|ABCC1_ENST00000346370.5_Silent_p.S1165S			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1221	ABC transmembrane type-1 2.				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)	CGGTGATCTCCAGGCACAGCC	0.557													23	42					0	0	0	0	T	16218718	C	T	16218718	2	4	328	1	0	0	0	0	0	0	0	1	49	581	21	4		4	ABCC1	16	16218718	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	16218718	74136035	1944	60158	658	2									
SMG1	23049	broad.mit.edu	37	chr16	18841660	18841660	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactgaaccatttctcggttGgattaattcaccgtactgag	11	13	8	9	2	2	2	1	2	1	0	3	3	2	3	2	2	3	2	2	2	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:18841660G>A	ENST00000446231.2	-	52	9236	c.8824C>T	c.(8824-8826)Caa>Taa	p.Q2942*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.Q2942*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2942					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTCTCGGTTGGATTAATTCA	0.408													15	22					0	0	0	0	A	18841660	G	A	18841660	4	1	328	1	0	0	0	0	0	1	0	0	14883	1357	47	4	2209	4	SMG1	16	18841660	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2622942	18841660	71513093	1945	60159											
SMG1	23049	broad.mit.edu	37	chr16	18848596	18848596	+	Missense_Mutation	SNP	G	G	A																															tgtgttgcagagtatgagaaGgatgatccaccccttcagct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:18848596G>A	ENST00000446231.2	-	46	7995	c.7583C>T	c.(7582-7584)cCt>cTt	p.P2528L	SMG1_ENST00000389467.3_Missense_Mutation_p.P2528L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2528					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTATGAGAAGGATGATCCAC	0.373													41	105					0	0	0	0	A	18848596	G	A	18848596	3	1	328	1	0	0	0	0	1	0	0	0	14883	1000	35	4	3474	4	SMG1	16	18848596	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6936	18848596	71506157	1946	60160	659	2									
SMG1	23049	broad.mit.edu	37	chr16	18848597	18848597	+	Missense_Mutation	SNP	G	G	A																															gtgttgcagagtatgagaagGatgatccaccccttcagctc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:18848597G>A	ENST00000446231.2	-	46	7994	c.7582C>T	c.(7582-7584)Cct>Tct	p.P2528S	SMG1_ENST00000389467.3_Missense_Mutation_p.P2528S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2528					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTATGAGAAGGATGATCCACC	0.373													42	106					0	0	0	0	A	18848597	G	A	18848597	3	1	328	1	0	0	0	0	1	0	0	0	14883	1174	41	2	3475	2	SMG1	16	18848597	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	18848597	71506156	1947	60161	659	2									
ACSM2A	123876	broad.mit.edu	37	chr16	20497933	20497933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgcccaagactgtcacagGgaaaattcaacgagccaagc	14	5	9	13	1	2	1	2	0	0	1	2	3	2	2	3	1	4	0	3	1	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:20497933G>A	ENST00000573854.1	+	14	1781	c.1667G>A	c.(1666-1668)gGg>gAg	p.G556E	ACSM2A_ENST00000575690.1_Missense_Mutation_p.G556E|ACSM2A_ENST00000417235.2_Missense_Mutation_p.G477E|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G556E|ACSM2A_ENST00000536134.1_Missense_Mutation_p.G328E|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G556E	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	556					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ACTGTCACAGGGAAAATTCAA	0.478													56	94					0	0	0	0	A	20497933	G	A	20497933	3	1	328	1	0	0	0	0	1	0	0	0	183	1232	43	4	1717	4	ACSM2A	16	20497933	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1649336	20497933	69856820	1948	60162											
ACSM1	116285	broad.mit.edu	37	chr16	20651842	20651842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtccgtcttttccactcctCctgatccttgggcaacacga	6	12	7	16	3	1	1	0	1	1	0	6	2	6	1	5	1	1	1	5	1	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:20651842C>T	ENST00000307493.4	-	7	1124	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.E353K	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	353					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TTCCACTCCTCCTGATCCTTG	0.562													31	43					0	0	0	0	T	20651842	C	T	20651842	3	4	328	1	0	0	0	0	1	0	0	0	182	864	30	2	704	2	ACSM1	16	20651842	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	153909	20651842	69702911	1949	60163											
DNAH3	55567	broad.mit.edu	37	chr16	21011790	21011790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtctaagtaggttttcaaGaagaaggactgccgggctgt	10	11	14	6	1	2	2	1	0	1	2	2	3	2	3	1	4	1	3	1	4	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:21011790G>A	ENST00000261383.3	-	43	6176	c.6177C>T	c.(6175-6177)ttC>ttT	p.F2059F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2059	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGTTTTCAAGAAGAAGGACT	0.532													17	28					0	0	0	0	A	21011790	G	A	21011790	2	1	328	1	0	0	0	0	0	0	0	1	4640	933	33	2		2	DNAH3	16	21011790	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	359948	21011790	69342963	1950	60164											
DNAH3	55567	broad.mit.edu	37	chr16	21060963	21060963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgaagaacttccccataGctttgtaatccaaaccatcg	12	11	5	13	1	0	2	0	1	0	1	3	2	2	2	5	0	3	2	5	0	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:21060963G>A	ENST00000261383.3	-	31	4387	c.4388C>T	c.(4387-4389)gCt>gTt	p.A1463V	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1463V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1463	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCCCCATAGCTTTGTAATC	0.507													33	54					0	0	0	0	A	21060963	G	A	21060963	3	1	328	1	0	0	0	0	1	0	0	0	4640	971	34	4	8089	4	DNAH3	16	21060963	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	49173	21060963	69293790	1951	60165											
ZP2	7783	broad.mit.edu	37	chr16	21213515	21213515	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggctggcaggatgagttTcccaccctcagagtacccag	10	7	11	13	0	1	2	1	1	0	1	2	3	2	3	3	3	1	4	3	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:21213515T>A	ENST00000574002.1	-	12	1679	c.1197A>T	c.(1195-1197)ggA>ggT	p.G399G	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.G399G|ZP2_ENST00000574091.1_Silent_p.G399G			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	399	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGGATGAGTTTCCCACCCTCA	0.527													19	19					0	0	0	0	A	21213515	T	A	21213515	2	1	328	1	0	0	0	0	0	0	0	1	18309	1770	62	5		5	ZP2	16	21213515	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	152552	21213515	69141238	1952	60166											
CRYM	1428	broad.mit.edu	37	chr16	21278917	21278917	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccattcaccaaacaaaaTgggctctgttgccagggtga	12	8	9	12	0	2	1	1	1	1	0	2	1	2	1	3	2	2	2	3	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:21278917T>G	ENST00000219599.3	-	7	896	c.631A>C	c.(631-633)Att>Ctt	p.I211L	CRYM_ENST00000396023.2_Missense_Mutation_p.I211L|CRYM_ENST00000543948.1_Missense_Mutation_p.I211L|CRYM_ENST00000415987.2_Missense_Mutation_p.I169L	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	211					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	CCAAACAAAATGGGCTCTGTT	0.552													23	24					0	0	0	0	G	21278917	T	G	21278917	3	3	328	1	0	0	0	0	1	0	0	0	3951	1464	51	5	329	5	CRYM	16	21278917	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	65402	21278917	69075836	1953	60167											
OTOA	146183	broad.mit.edu	37	chr16	21698771	21698771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcgacttaggagagattcGagaacgagccttgcagagcc	12	7	12	10	3	0	3	0	0	0	3	2	8	0	4	2	1	4	1	2	1	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:21698771G>A	ENST00000388958.3	+	7	438	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	OTOA_ENST00000388956.4_Missense_Mutation_p.R67Q|OTOA_ENST00000286149.4_Missense_Mutation_p.R146Q	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	146					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGAGAGATTCGAGAACGAGCC	0.522													44	80					0	0	0	0	A	21698771	G	A	21698771	3	1	328	1	0	0	0	0	1	0	0	0	11373	1058	37	1	497	1	OTOA	16	21698771	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	419854	21698771	68655982	1954	60168											
POLR3E	55718	broad.mit.edu	37	chr16	22343422	22343422	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attttttccaaaaattaccgGgtacgccgaaacatgatcca	14	11	6	10	3	0	1	0	1	0	0	2	2	2	1	4	1	3	1	4	1	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:22343422G>A	ENST00000299853.5	+	20	2153	c.1986G>A	c.(1984-1986)cgG>cgA	p.R662R	POLR3E_ENST00000359210.4_Intron|POLR3E_ENST00000418581.2_Silent_p.R626R|POLR3E_ENST00000564209.1_Intron	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	662					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AAAATTACCGGGTACGCCGAA	0.403													34	47					0	0	0	0	A	22343422	G	A	22343422	2	1	328	1	0	0	0	0	0	0	0	1	12304	1219	43	4		4	POLR3E	16	22343422	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	644651	22343422	68011331	1955	60169											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25263318	25263318	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcacactctttctgtaGgaaaagcctctggccacgtg	9	11	10	11	1	3	1	0	1	3	0	3	2	3	2	2	2	2	2	2	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:25263318G>A	ENST00000328086.7	-	4	1520	c.717C>T	c.(715-717)tcC>tcT	p.S239S		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	239	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTTTCTGTAGGAAAAGCCTC	0.488													36	66					0	0	0	0	A	25263318	G	A	25263318	2	1	328	1	0	0	0	0	0	0	0	1	17782	987	35	4		4	ZKSCAN2	16	25263318	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2919896	25263318	65091435	1956	60170											
MVP	9961	broad.mit.edu	37	chr16	29845167	29845167	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggagatgagtggcttttCgagggacctggtaagttctg	8	11	16	6	1	1	2	0	1	1	1	2	5	1	3	1	4	0	4	1	4	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:29845167C>T	ENST00000357402.5	+	4	573	c.435C>T	c.(433-435)ttC>ttT	p.F145F	MVP_ENST00000395353.1_Silent_p.F145F|MVP_ENST00000452209.2_Intron	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	145					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AGTGGCTTTTCGAGGGACCTG	0.542													45	52					0	0	0	0	T	29845167	C	T	29845167	2	4	328	1	0	0	0	0	0	0	0	1	10066	883	31	1		1	MVP	16	29845167	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4581849	29845167	60509586	1957	60171											
MVP	9961	broad.mit.edu	37	chr16	29853078	29853078	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctccagcccttggcgccCcggaacaagacccgtgtggt	7	6	12	16	3	0	1	0	0	0	1	1	2	1	2	6	3	3	0	6	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:29853078C>T	ENST00000357402.5	+	9	1491	c.1353C>T	c.(1351-1353)ccC>ccT	p.P451P	MVP_ENST00000395353.1_Silent_p.P451P|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	451					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CCTTGGCGCCCCGGAACAAGA	0.662													10	16					0	0	0	0	T	29853078	C	T	29853078	2	4	328	1	0	0	0	0	0	0	0	1	10066	610	22	4		4	MVP	16	29853078	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7911	29853078	60501675	1958	60172											
TAOK2	9344	broad.mit.edu	37	chr16	29999288	29999288	+	Missense_Mutation	SNP	C	C	T																															ccgccagtcccgggccctgcCcccctggaggtagctgactc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:29999288C>T	ENST00000308893.4	+	16	4738	c.3695C>T	c.(3694-3696)cCc>cTc	p.P1232L	TAOK2_ENST00000543033.1_Missense_Mutation_p.P1119L|TAOK2_ENST00000416441.2_Missense_Mutation_p.P1059L|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1232					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CGGGCCCTGCCCCCCTGGAGG	0.657													8	9					0	0	0	0	T	29999288	C	T	29999288	3	4	328	1	0	0	0	0	1	0	0	0	15639	623	22	4	3753	4	TAOK2	16	29999288	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	146210	29999288	60355465	1959	60173	660	2									
TAOK2	9344	broad.mit.edu	37	chr16	29999289	29999289	+	Silent	SNP	C	C	T																															cgccagtcccgggccctgccCccctggaggtagctgactcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:29999289C>T	ENST00000308893.4	+	16	4739	c.3696C>T	c.(3694-3696)ccC>ccT	p.P1232P	TAOK2_ENST00000543033.1_Silent_p.P1119P|TAOK2_ENST00000416441.2_Silent_p.P1059P|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1232					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGGCCCTGCCCCCCTGGAGGT	0.652													7	10					0	0	0	0	T	29999289	C	T	29999289	2	4	328	1	0	0	0	0	0	0	0	1	15639	610	22	4		4	TAOK2	16	29999289	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	29999289	60355464	1960	60174	660	2									
CD2BP2	10421	broad.mit.edu	37	chr16	30364565	30364565	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgtgttctcccacttataTtcccacatcacatccaccag	9	11	3	18	1	2	0	1	0	1	0	5	0	4	0	5	0	0	1	5	0	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30364565T>A	ENST00000305596.3	-	6	1027	c.852A>T	c.(850-852)gaA>gaT	p.E284D	CD2BP2_ENST00000569466.1_Missense_Mutation_p.E284D	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	284	GYF.				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CCCACTTATATTCCCACATCA	0.572													33	58					0	0	0	0	A	30364565	T	A	30364565	3	1	328	1	0	0	0	0	1	0	0	0	3024	1490	52	5	181	5	CD2BP2	16	30364565	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	365276	30364565	59990188	1961	60175											
TBC1D10B	26000	broad.mit.edu	37	chr16	30376483	30376483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctattagacaggtactgccaGgctttggctctgagagagga	10	10	13	8	0	1	3	0	1	1	2	1	5	1	4	1	4	2	3	1	4	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30376483G>A	ENST00000409939.3	-	3	1187	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	369	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GGTACTGCCAGGCTTTGGCTC	0.587													22	34					0	0	0	0	A	30376483	G	A	30376483	2	1	328	1	0	0	0	0	0	0	0	1	15690	987	35	4		4	TBC1D10B	16	30376483	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	11918	30376483	59978270	1962	60176											
ITGAL	3683	broad.mit.edu	37	chr16	30532957	30532957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaagcccctccatgagaagGactctgagagtggtggtggc	9	8	15	9	0	1	3	0	3	1	2	2	6	2	4	3	4	1	0	3	4	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30532957G>A	ENST00000356798.6	+	31	3664	c.3484G>A	c.(3484-3486)Gac>Aac	p.D1162N	ITGAL_ENST00000358164.5_Missense_Mutation_p.D1078N|ITGAL_ENST00000433423.2_Missense_Mutation_p.D396N	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1162					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCATGAGAAGGACTCTGAGAG	0.617													22	30					0	0	0	0	A	30532957	G	A	30532957	3	1	328	1	0	0	0	0	1	0	0	0	7939	1174	41	2	3606	2	ITGAL	16	30532957	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	156474	30532957	59821796	1963	60177											
ZNF747	65988	broad.mit.edu	37	chr16	30544332	30544332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggggcgactccggcgccGggccttggacagctgctcca	4	5	17	15	5	0	0	0	0	0	0	2	2	2	1	4	5	2	2	4	5	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30544332G>A	ENST00000535210.1	-	3	653	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	ZNF747_ENST00000568028.1_Missense_Mutation_p.R161W|ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000569360.1_Missense_Mutation_p.R161W			Q9BV97	ZN747_HUMAN	zinc finger protein 747	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			kidney(1)|lung(3)|prostate(1)	5						CTCCGGCGCCGGGCCTTGGAC	0.711													25	21					0	0	0	0	A	30544332	G	A	30544332	3	1	328	1	0	0	0	0	1	0	0	0	18224	1131	39	1		1	ZNF747	16	30544332	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	11375	30544332	59810421	1964	60178											
ZNF689	115509	broad.mit.edu	37	chr16	30621329	30621329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtctggcctttcctggtcCctgcgcagggagcggagccg	3	8	17	13	3	1	0	0	0	1	0	3	2	3	2	4	5	3	1	4	5	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30621329C>T	ENST00000287461.3	-	1	371	c.34G>A	c.(34-36)Gga>Aga	p.G12R	ZNF689_ENST00000566673.1_Intron	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			TTTCCTGGTCCCTGCGCAGGG	0.716													6	10					0	0	0	0	T	30621329	C	T	30621329	3	4	328	1	0	0	0	0	1	0	0	0	18189	632	22	4	1480	4	ZNF689	16	30621329	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	76997	30621329	59733424	1965	60179											
SRCAP	10847	broad.mit.edu	37	chr16	30747679	30747679	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgaggatgaggagatgtcCcgggctgagcaggaaattgc	10	7	17	7	1	0	4	0	3	0	1	1	7	1	6	1	4	2	3	1	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30747679C>T	ENST00000262518.4	+	32	7273	c.6888C>T	c.(6886-6888)tcC>tcT	p.S2296S	SRCAP_ENST00000344771.4_Silent_p.S2138S|SRCAP_ENST00000395059.2_Silent_p.S2234S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2296	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGAGATGTCCCGGGCTGAGC	0.557													27	38					0	0	0	0	T	30747679	C	T	30747679	2	4	328	1	0	0	0	0	0	0	0	1	15225	610	22	4		4	SRCAP	16	30747679	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	126350	30747679	59607074	1966	60180											
ZNF629	23361	broad.mit.edu	37	chr16	30794800	30794800	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagggtttctcgcctgtgtgGgtggcctggtgctggatgag	3	13	18	7	1	1	1	0	1	1	0	2	2	1	2	2	5	1	2	2	5	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30794800G>A	ENST00000262525.4	-	3	1056	c.849C>T	c.(847-849)acC>acT	p.T283T		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CGCCTGTGTGGGTGGCCTGGT	0.642													23	40					0	0	0	0	A	30794800	G	A	30794800	2	1	328	1	0	0	0	0	0	0	0	1	18148	1219	43	4		4	ZNF629	16	30794800	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	47121	30794800	59559953	1967	60181											
ZNF646	9726	broad.mit.edu	37	chr16	31089073	31089073	+	Silent	SNP	C	C	T																															tgtggtcgtgcttaccgccaCcgggggagcctggtgaacca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31089073C>T	ENST00000394979.2	+	1	1851	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	ZNF646_ENST00000300850.5_Silent_p.H476H			O15015	ZN646_HUMAN	zinc finger protein 646	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTTACCGCCACCGGGGGAGCC	0.617													17	17					0	0	0	0	T	31089073	C	T	31089073	2	4	328	1	0	0	0	0	0	0	0	1	18157	506	18	4		4	ZNF646	16	31089073	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	294273	31089073	59265680	1968	60182	661	2									
ZNF646	9726	broad.mit.edu	37	chr16	31089074	31089074	+	Missense_Mutation	SNP	C	C	T																															gtggtcgtgcttaccgccacCgggggagcctggtgaaccat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31089074C>T	ENST00000394979.2	+	1	1852	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	ZNF646_ENST00000300850.5_Missense_Mutation_p.R477W			O15015	ZN646_HUMAN	zinc finger protein 646	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R477W(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TTACCGCCACCGGGGGAGCCT	0.617													17	18					0	0	0	0	T	31089074	C	T	31089074	3	4	328	1	0	0	0	0	1	0	0	0	18157	643	23	1	1431	1	ZNF646	16	31089074	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	31089074	59265679	1969	60183	661	2									
BCKDK	10295	broad.mit.edu	37	chr16	31120611	31120611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctccggcccctcctgggaCccgcactcgcgctccgggcc	2	5	12	22	6	0	0	0	0	0	0	4	1	3	1	7	3	0	3	7	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31120611C>T	ENST00000394951.1	+	3	690	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	BCKDK_ENST00000287507.3_Missense_Mutation_p.P23S|BCKDK_ENST00000219794.6_Missense_Mutation_p.P23S|BCKDK_ENST00000394950.3_Missense_Mutation_p.P23S|AC135050.1_ENST00000517000.2_RNA			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	23					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CCTCCTGGGACCCGCACTCGC	0.692													8	11					0	0	0	0	T	31120611	C	T	31120611	3	4	328	1	0	0	0	0	1	0	0	0	1365	507	18	4	69	4	BCKDK	16	31120611	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	31537	31120611	59234142	1970	60184											
PRSS36	146547	broad.mit.edu	37	chr16	31157262	31157262	+	Missense_Mutation	SNP	G	G	A																															cacttcctgtagcacccaggGgagaggcagaggatctggag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31157262G>A	ENST00000268281.4	-	6	626	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	PRSS36_ENST00000569305.1_Missense_Mutation_p.P190S|PRSS36_ENST00000418068.2_Missense_Mutation_p.P190S	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	190	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AGCACCCAGGGGAGAGGCAGA	0.597													18	13					0	0	0	0	A	31157262	G	A	31157262	3	1	328	1	0	0	0	0	1	0	0	0	12704	1232	43	4	2039	4	PRSS36	16	31157262	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	36651	31157262	59197491	1971	60185	662	2									
PRSS36	146547	broad.mit.edu	37	chr16	31157264	31157264	+	Missense_Mutation	SNP	A	A	T																															cttcctgtagcacccaggggAgaggcagaggatctggaggc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31157264A>T	ENST00000268281.4	-	6	624	c.566T>A	c.(565-567)cTc>cAc	p.L189H	PRSS36_ENST00000569305.1_Missense_Mutation_p.L189H|PRSS36_ENST00000418068.2_Missense_Mutation_p.L189H	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	189	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CACCCAGGGGAGAGGCAGAGG	0.602													18	14					0	0	0	0	T	31157264	A	T	31157264	3	4	328	1	0	0	0	0	1	0	0	0	12704	304	11	5	2041	5	PRSS36	16	31157264	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	2	31157264	59197489	1972	60186	662	2									
ITGAM	3684	broad.mit.edu	37	chr16	31332936	31332936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagaagagcacacgggatCggctaagagaaggtgaggct	13	5	15	8	2	0	4	0	1	0	3	2	6	1	5	1	4	1	3	1	4	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31332936C>T	ENST00000544665.3	+	16	2064	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	ITGAM_ENST00000287497.8_Missense_Mutation_p.R664W	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	664					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CACACGGGATCGGCTAAGAGA	0.527													30	46					0	0	0	0	T	31332936	C	T	31332936	3	4	328	1	0	0	0	0	1	0	0	0	7940	875	31	1	2055	1	ITGAM	16	31332936	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	175672	31332936	59021817	1973	60187											
ZNF423	23090	broad.mit.edu	37	chr16	49672020	49672020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactgtggttgctggagtcgGgctgccggtggctgtccagg	3	10	18	10	2	0	0	0	0	0	0	2	1	1	1	2	6	2	4	2	6	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:49672020G>A	ENST00000561648.1	-	4	1096	c.1043C>T	c.(1042-1044)cCc>cTc	p.P348L	ZNF423_ENST00000563137.2_Missense_Mutation_p.P288L|ZNF423_ENST00000567169.1_Missense_Mutation_p.P231L|ZNF423_ENST00000562871.1_Missense_Mutation_p.P288L|ZNF423_ENST00000562520.1_Missense_Mutation_p.P288L|ZNF423_ENST00000262383.2_Missense_Mutation_p.P348L|ZNF423_ENST00000535559.1_Missense_Mutation_p.P231L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	348					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCTGGAGTCGGGCTGCCGGTG	0.642													17	11					0	0	0	0	A	49672020	G	A	49672020	3	1	328	1	0	0	0	0	1	0	0	0	17993	1232	43	4	2831	4	ZNF423	16	49672020	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	18339084	49672020	40682733	1974	60188											
CHD9	80205	broad.mit.edu	37	chr16	53342629	53342629	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttgacatttcagaagcAagggcttgctcagaaaagac	15	8	11	7	0	2	4	2	1	0	3	2	5	2	4	0	1	2	4	0	1	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:53342629A>G	ENST00000566029.1	+	34	7246	c.7037A>G	c.(7036-7038)cAa>cGa	p.Q2346R	CHD9_ENST00000564845.1_Missense_Mutation_p.Q2346R|CHD9_ENST00000398510.3_Missense_Mutation_p.Q2362R|CHD9_ENST00000447540.1_Missense_Mutation_p.Q2347R			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2362	Binds A/T-rich DNA.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTTCAGAAGCAAGGGCTTGCT	0.418													9	6					0	0	0	0	G	53342629	A	G	53342629	3	3	328	1	0	0	0	0	1	0	0	0	3361	130	5	5	7167	5	CHD9	16	53342629	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	3670609	53342629	37012124	1975	60189											
CES1	1066	broad.mit.edu	37	chr16	55846853	55846853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcctgcttgttaattcCgaccatgtaggggacagtgt	10	12	10	9	1	0	0	0	0	0	0	2	2	2	1	3	2	2	3	3	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:55846853C>T	ENST00000422046.2	-	9	1326	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R	CES1_ENST00000361503.4_Missense_Mutation_p.G349R|CES1_ENST00000360526.3_Missense_Mutation_p.G350R			P23141	EST1_HUMAN	carboxylesterase 1	349					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)	TTGTTAATTCCGACCATGTAG	0.512													40	106					0	0	0	0	T	55846853	C	T	55846853	3	4	328	1	0	0	0	0	1	0	0	0	3298	661	23	1	682	1	CES1	16	55846853	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2504224	55846853	34507900	1976	60190											
MT1X	4501	broad.mit.edu	37	chr16	56717159	56717159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagagtgagtgcagggccttCcctgcgaatctgggggatgg	8	8	17	8	1	1	2	0	1	1	1	2	4	2	3	2	4	2	1	2	4	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:56717159C>T	ENST00000562939.1	+	2	182	c.111C>T	c.(109-111)ttC>ttT	p.F37F	MT1X_ENST00000394485.4_Intron|RP11-343H19.2_ENST00000567563.1_RNA			P80297	MT1X_HUMAN	metallothionein 1X	37	Alpha.				response to metal ion		metal ion binding			kidney(2)	2						GCAGGGCCTTCCCTGCGAATC	0.572													29	22					0	0	0	0	T	56717159	C	T	56717159	2	4	328	1	0	0	0	0	0	0	0	1	9974	870	30	2		2	MT1X	16	56717159	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	870306	56717159	33637594	1977	60191											
COQ9	57017	broad.mit.edu	37	chr16	57486715	57486715	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtcctcttgtctcaggtAtacagaccagggcggcgagg	7	10	14	10	2	2	1	1	0	2	1	4	2	3	1	2	4	1	1	2	4	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:57486715A>T	ENST00000262507.6	+	3	314	c.245A>T	c.(244-246)tAt>tTt	p.Y82F	COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_Missense_Mutation_p.Y82F|COQ9_ENST00000567072.1_Missense_Mutation_p.Y82F	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	82					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGTCTCAGGTATACAGACCAG	0.572													39	78					0	0	0	0	T	57486715	A	T	57486715	3	4	328	1	0	0	0	0	1	0	0	0	3781	449	16	5	255	5	COQ9	16	57486715	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	769556	57486715	32868038	1978	60192											
CDH11	1009	broad.mit.edu	37	chr16	65022213	65022213	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttcctacttcctccccaggGacggctgcttctgacacaga	7	10	8	16	1	1	2	0	1	1	1	4	3	4	3	4	2	2	2	4	2	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:65022213G>A	ENST00000394156.3	-	7	1299	c.846C>T	c.(844-846)gtC>gtT	p.V282V	CDH11_ENST00000566827.1_Silent_p.V156V|CDH11_ENST00000268603.4_Silent_p.V282V			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	282	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCTCCCCAGGGACGGCTGCTT	0.398			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			36	74					0	0	0	0	A	65022213	G	A	65022213	2	1	328	1	0	0	0	0	0	0	0	1	3126	1161	41	2		2	CDH11	16	65022213	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7535498	65022213	25332540	1979	60193											
CDH5	1003	broad.mit.edu	37	chr16	66426130	66426130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atacatgagccctcccgcggGaaacagagcccaggtcatta	12	6	10	13	2	1	2	1	1	0	1	2	3	2	3	3	2	4	0	3	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:66426130G>A	ENST00000341529.3	+	7	1209	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E	CDH5_ENST00000563425.2_Missense_Mutation_p.G354E	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	354	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCTCCCGCGGGAAACAGAGCC	0.527													66	101					0	0	0	0	A	66426130	G	A	66426130	3	1	328	1	0	0	0	0	1	0	0	0	3142	1174	41	2	1083	2	CDH5	16	66426130	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1403917	66426130	23928623	1980	60194											
CDH5	1003	broad.mit.edu	37	chr16	66436580	66436580	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accctgctcatcttcctgcgGcggcggctccggaagcaggc	5	7	13	16	4	2	0	1	0	1	0	4	1	4	1	3	5	3	3	3	5	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:66436580G>A	ENST00000341529.3	+	12	2011	c.1863G>A	c.(1861-1863)cgG>cgA	p.R621R	CDH5_ENST00000539168.1_Silent_p.R60R	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	621					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TCTTCCTGCGGCGGCGGCTCC	0.706													9	7					0	0	0	0	A	66436580	G	A	66436580	2	1	328	1	0	0	0	0	0	0	0	1	3142	1190	42	4		4	CDH5	16	66436580	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	10450	66436580	23918173	1981	60195											
C16orf70	80262	broad.mit.edu	37	chr16	67154023	67154023	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttatttcaggaatgcctCtggctcaggcagtagccatt	8	13	10	10	0	3	0	2	0	1	0	3	1	3	1	2	3	2	4	2	3	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67154023C>T	ENST00000219139.3	+	2	261	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	C16orf70_ENST00000569600.1_Silent_p.L25L|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	25										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AGGAATGCCTCTGGCTCAGGC	0.458													45	61					0	0	0	0	T	67154023	C	T	67154023	2	4	328	1	0	0	0	0	0	0	0	1	1842	912	32	2		2	C16orf70	16	67154023	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	717443	67154023	23200730	1982	60196											
E2F4	1874	broad.mit.edu	37	chr16	67228767	67228767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccacctctgcccaagcCtgccctagcccagtcccagg	7	6	7	21	0	1	0	0	0	1	0	3	0	3	0	8	1	4	0	8	1	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67228767C>T	ENST00000379378.3	+	6	751	c.692C>T	c.(691-693)cCt>cTt	p.P231L		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	231					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CTGCCCAAGCCTGCCCTAGCC	0.607													24	48					0	0	0	0	T	67228767	C	T	67228767	3	4	328	1	0	0	0	0	1	0	0	0	4905	681	24	4	714	4	E2F4	16	67228767	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	74744	67228767	23125986	1983	60197											
FHOD1	29109	broad.mit.edu	37	chr16	67272172	67272172	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatcaggcagctcagcccCtctgaatgcacaaattcagg	11	7	10	13	1	4	1	3	1	1	0	4	2	4	2	2	3	3	3	2	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67272172C>T	ENST00000258201.4	-	5	727	c.480G>A	c.(478-480)gaG>gaA	p.E160E	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	160	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGCTCAGCCCCTCTGAATGCA	0.592													21	37					0	0	0	0	T	67272172	C	T	67272172	2	4	328	1	0	0	0	0	0	0	0	1	5927	680	24	4		4	FHOD1	16	67272172	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	43405	67272172	23082581	1984	60198											
SLC9A5	6553	broad.mit.edu	37	chr16	67290916	67290916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcctgcggggggctgtggCctttgctctcgtcatcctac	2	11	15	13	2	2	0	1	0	1	0	4	0	3	0	3	5	3	2	3	5	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67290916C>T	ENST00000299798.11	+	7	1300	c.1235C>T	c.(1234-1236)gCc>gTc	p.A412V		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	412					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GGGGCTGTGGCCTTTGCTCTC	0.552													61	89					0	0	0	0	T	67290916	C	T	67290916	3	4	328	1	0	0	0	0	1	0	0	0	14805	739	26	4	1261	4	SLC9A5	16	67290916	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	18744	67290916	23063837	1985	60199											
SLC9A5	6553	broad.mit.edu	37	chr16	67292323	67292323	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgtactacaggcttaacatCcgggatgccatcagctttgt	9	12	10	10	1	1	0	1	0	0	0	2	1	2	1	2	2	5	3	2	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67292323C>T	ENST00000299798.11	+	10	1664	c.1599C>T	c.(1597-1599)atC>atT	p.I533I		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	533					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GGCTTAACATCCGGGATGCCA	0.582													18	33					0	0	0	0	T	67292323	C	T	67292323	2	4	328	1	0	0	0	0	0	0	0	1	14805	845	30	2		2	SLC9A5	16	67292323	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1407	67292323	23062430	1986	60200											
PLEKHG4	25894	broad.mit.edu	37	chr16	67322298	67322298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagctgggcggccagccctCtttgagtatgtctgggccta	6	10	14	11	1	2	2	0	1	2	1	2	2	2	2	3	3	2	2	3	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67322298C>T	ENST00000360461.5	+	19	5984	c.3449C>T	c.(3448-3450)tCt>tTt	p.S1150F	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.S1150F|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.S1069F|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.S1150F	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1150					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGCCAGCCCTCTTTGAGTATG	0.627													34	35					0	0	0	0	T	67322298	C	T	67322298	3	4	328	1	0	0	0	0	1	0	0	0	12143	913	32	2	3523	2	PLEKHG4	16	67322298	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	29975	67322298	23032455	1987	60201											
ACD	65057	broad.mit.edu	37	chr16	67694198	67694198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccgcctttcctcggaaGaggaagctccttcgctgggc	5	8	13	15	3	0	1	0	0	0	1	4	3	2	3	5	4	1	2	5	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67694198G>T	ENST00000219251.8	-	1	515	c.184C>A	c.(184-186)Ctt>Att	p.L62I	ACD_ENST00000393919.4_Missense_Mutation_p.L62I	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	62					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L62F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCCTCGGAAGAGGAAGCTCC	0.736													15	19					9.16793e-09	9.23705e-09	1	0	T	67694198	G	T	67694198	3	4	328	1	0	0	0	0	1	0	0	0	135	942	33	2	1498	2	ACD	16	67694198	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	371900	67694198	22660555	1988	60202											
EDC4	23644	broad.mit.edu	37	chr16	67911499	67911499	+	Silent	SNP	G	G	A																															tggtgccccttcatccctgaGgagagcgaagactgctgtga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67911499G>A	ENST00000358933.5	+	6	968	c.729G>A	c.(727-729)gaG>gaA	p.E243E	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	243					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCATCCCTGAGGAGAGCGAAG	0.597													23	49					0	0	0	0	A	67911499	G	A	67911499	2	1	328	1	0	0	0	0	0	0	0	1	4944	991	35	4		4	EDC4	16	67911499	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	217301	67911499	22443254	1989	60203	663	2									
EDC4	23644	broad.mit.edu	37	chr16	67911500	67911500	+	Missense_Mutation	SNP	G	G	A																															ggtgccccttcatccctgagGagagcgaagactgctgtgag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67911500G>A	ENST00000358933.5	+	6	969	c.730G>A	c.(730-732)Gag>Aag	p.E244K	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	244					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CATCCCTGAGGAGAGCGAAGA	0.597													23	51					0	0	0	0	A	67911500	G	A	67911500	3	1	328	1	0	0	0	0	1	0	0	0	4944	1175	41	2	752	2	EDC4	16	67911500	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	67911500	22443253	1990	60204	663	2									
PRMT7	54496	broad.mit.edu	37	chr16	68373238	68373238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacttaggaaaattgtgaggCcgtgccccacagagccaccg	12	6	11	12	2	0	2	0	1	0	1	0	3	0	3	5	2	3	0	5	2	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:68373238C>T	ENST00000339507.5	+	8	1348	c.518C>T	c.(517-519)gCc>gTc	p.A173V	PRMT7_ENST00000449359.3_Missense_Mutation_p.A123V|PRMT7_ENST00000348497.4_Missense_Mutation_p.A99V|PRMT7_ENST00000441236.1_Missense_Mutation_p.A123V|PRMT7_ENST00000564441.1_3'UTR			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	173					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AATTGTGAGGCCGTGCCCCAC	0.463													21	43					0	0	0	0	T	68373238	C	T	68373238	3	4	328	1	0	0	0	0	1	0	0	0	12621	739	26	4	540	4	PRMT7	16	68373238	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	461738	68373238	21981515	1991	60205											
TMED6	146456	broad.mit.edu	37	chr16	69377544	69377544	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccttttgtgtgccgtcCtatgagagagacaattttaa	10	14	9	8	1	0	2	0	1	0	2	1	4	1	2	3	0	2	1	3	0	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:69377544C>T	ENST00000288025.3	-	4	545		c.e4-1		RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6						transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						GTGTGCCGTCCTATGAGAGAG	0.438													36	72					0	0	0	0	T	69377544	C	T	69377544	5	4	328	1	0	0	0	0	0	0	1	0	16102	695	24	4	237	4	TMED6	16	69377544	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1004306	69377544	20977209	1992	60206											
VAC14	55697	broad.mit.edu	37	chr16	70817011	70817011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaggggttcttcttaatttCttttaagaattctccaagaa	11	16	8	6	0	4	2	0	0	4	2	5	3	4	3	1	3	0	1	1	3	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:70817011C>T	ENST00000261776.5	-	7	996	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	246					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TTCTTAATTTCTTTTAAGAAT	0.512													42	73					0	0	0	0	T	70817011	C	T	70817011	3	4	328	1	0	0	0	0	1	0	0	0	17207	922	32	2	1664	2	VAC14	16	70817011	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1439467	70817011	19537742	1993	60207											
PHLPP2	23035	broad.mit.edu	37	chr16	71736621	71736621	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatctgaagaggtcgttcagTaggttccagtctcctgatta	9	13	11	8	1	3	3	1	2	2	1	6	4	4	3	2	2	0	3	2	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:71736621T>C	ENST00000393524.2	-	2	1031	c.298A>G	c.(298-300)Act>Gct	p.T100A	PHLPP2_ENST00000360429.3_Missense_Mutation_p.T100A|PHLPP2_ENST00000568954.1_Missense_Mutation_p.T100A|PHLPP2_ENST00000567016.1_Missense_Mutation_p.T135A|PHLPP2_ENST00000356272.3_Missense_Mutation_p.T100A			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	100						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGTCGTTCAGTAGGTTCCAGT	0.343													23	46					0	0	0	0	C	71736621	T	C	71736621	3	2	328	1	0	0	0	0	1	0	0	0	11927	1638	57	5	3741	5	PHLPP2	16	71736621	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	919610	71736621	18618132	1994	60208											
ZFHX3	463	broad.mit.edu	37	chr16	72822416	72822416	+	Silent	SNP	G	G	A																															tccttcttggggacaggcagGggttcccctttccctttgtg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:72822416G>A	ENST00000268489.5	-	10	10431	c.9759C>T	c.(9757-9759)ccC>ccT	p.P3253P	ZFHX3_ENST00000397992.5_Silent_p.P2339P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3253					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGACAGGCAGGGGTTCCCCTT	0.582													67	128					0	0	0	0	A	72822416	G	A	72822416	2	1	328	1	0	0	0	0	0	0	0	1	17729	1219	43	4		4	ZFHX3	16	72822416	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1085795	72822416	17532337	1995	60209	664	2									
ZFHX3	463	broad.mit.edu	37	chr16	72822417	72822417	+	Missense_Mutation	SNP	G	G	A																															ccttcttggggacaggcaggGgttcccctttccctttgtgt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:72822417G>A	ENST00000268489.5	-	10	10430	c.9758C>T	c.(9757-9759)cCc>cTc	p.P3253L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P2339L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3253					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GACAGGCAGGGGTTCCCCTTT	0.582													67	128					0	0	0	0	A	72822417	G	A	72822417	3	1	328	1	0	0	0	0	1	0	0	0	17729	1232	43	4	1357	4	ZFHX3	16	72822417	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	72822417	17532336	1996	60210	664	2									
CHST5	23563	broad.mit.edu	37	chr16	75563191	75563191	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacacctcctgcacgcgcagGatcttagtgaagggcaacgc	10	6	11	14	3	1	1	0	1	1	0	2	2	2	2	2	2	2	3	2	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:75563191G>A	ENST00000336257.3	-	3	2486	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	CHST5_ENST00000541075.1_Silent_p.I370I|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	364					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCACGCGCAGGATCTTAGTGA	0.657													22	48					0	0	0	0	A	75563191	G	A	75563191	2	1	328	1	0	0	0	0	0	0	0	1	3436	1164	41	2		2	CHST5	16	75563191	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2740774	75563191	14791562	1997	60211											
ADAMTS18	170692	broad.mit.edu	37	chr16	77387770	77387770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctcatccactagacaccCcgcctgaggtgtgctgtaat	8	9	11	13	1	1	2	1	1	0	1	2	2	2	2	4	2	1	3	4	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:77387770C>T	ENST00000282849.5	-	10	1892	c.1474G>A	c.(1474-1476)Ggg>Agg	p.G492R		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	492	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACTAGACACCCCGCCTGAGGT	0.418													52	85					0	0	0	0	T	77387770	C	T	77387770	3	4	328	1	0	0	0	0	1	0	0	0	263	623	22	4	2247	4	ADAMTS18	16	77387770	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1824579	77387770	12966983	1998	60212											
BCMO1	53630	broad.mit.edu	37	chr16	81320958	81320958	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagagaggacgactgctGgccagcggaacccctgtttg	9	7	15	10	2	0	1	0	0	0	1	0	6	0	4	3	4	3	2	3	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:81320958G>A	ENST00000258168.2	+	10	1822	c.1361G>A	c.(1360-1362)tGg>tAg	p.W454*	BCMO1_ENST00000425577.2_Nonsense_Mutation_p.W385*	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	454					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GACGACTGCTGGCCAGCGGAA	0.468													29	56					0	0	0	0	A	81320958	G	A	81320958	4	1	328	1	0	0	0	0	0	1	0	0	1388	1357	47	4	1399	4	BCMO1	16	81320958	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3933188	81320958	9033795	1999	60213											
MPHOSPH6	10200	broad.mit.edu	37	chr16	82182459	82182459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaattgtccccaccaaGgtctcatatctgtcaagagg	10	11	7	13	0	3	1	2	0	2	1	6	1	5	1	4	2	0	0	4	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:82182459G>A	ENST00000258169.4	-	5	410	c.360C>T	c.(358-360)acC>acT	p.T120T	MPHOSPH6_ENST00000563504.1_Silent_p.T91T	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	120					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding			endometrium(1)|large_intestine(1)|lung(3)	5						TCCCCACCAAGGTCTCATATC	0.378													48	84					0	0	0	0	A	82182459	G	A	82182459	2	1	328	1	0	0	0	0	0	0	0	1	9796	987	35	4		4	MPHOSPH6	16	82182459	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	861501	82182459	8172294	2000	60214											
CDH13	1012	broad.mit.edu	37	chr16	83159027	83159027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaacttctcctgtcccaaGacaaaagaggtccattgtgg	13	9	9	10	0	1	3	0	0	1	3	4	3	3	3	3	2	1	0	3	2	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:83159027G>A	ENST00000566620.1	+	4	694	c.404G>A	c.(403-405)aGa>aAa	p.R135K	CDH13_ENST00000431540.3_Missense_Mutation_p.R135K|CDH13_ENST00000446376.2_Missense_Mutation_p.R135K|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000565636.1_Missense_Mutation_p.R135K|CDH13_ENST00000428848.3_Intron|CDH13_ENST00000268613.10_Missense_Mutation_p.R182K	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	135					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCTGTCCCAAGACAAAAGAGG	0.383													16	17					0	0	0	0	A	83159027	G	A	83159027	3	1	328	1	0	0	0	0	1	0	0	0	3128	942	33	2	418	2	CDH13	16	83159027	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	976568	83159027	7195726	2001	60215											
MTHFSD	64779	broad.mit.edu	37	chr16	86565692	86565692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcaggccctgcaagcaggaGacggcctgctgggctgcggc	6	4	17	14	3	0	1	0	0	0	1	0	2	0	1	2	5	4	5	2	5	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:86565692G>A	ENST00000322911.6	-	8	1124	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	MTHFSD_ENST00000381214.5_Silent_p.V359V|MTHFSD_ENST00000543303.2_Silent_p.V358V|MTHFSD_ENST00000546093.1_Silent_p.V196V|MTHFSD_ENST00000360900.6_Silent_p.V359V	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	359	RRM.				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						GCAAGCAGGAGACGGCCTGCT	0.711													11	11					0	0	0	0	A	86565692	G	A	86565692	2	1	328	1	0	0	0	0	0	0	0	1	10003	929	33	2		2	MTHFSD	16	86565692	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3406665	86565692	3789061	2002	60216											
ZC3H18	124245	broad.mit.edu	37	chr16	88653042	88653042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaggtgaagtgaaggaccCcagtgacaggaaggtgaggc	14	4	17	6	0	0	5	0	4	0	1	0	7	0	7	2	5	0	0	2	5	4	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:88653042C>T	ENST00000301011.5	+	3	838	c.638C>T	c.(637-639)cCc>cTc	p.P213L	ZC3H18_ENST00000452588.2_Missense_Mutation_p.P213L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	213						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GTGAAGGACCCCAGTGACAGG	0.552													7	26					0	0	0	0	T	88653042	C	T	88653042	3	4	328	1	0	0	0	0	1	0	0	0	17663	623	22	4	644	4	ZC3H18	16	88653042	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2087350	88653042	1701711	2003	60217											
GALNS	2588	broad.mit.edu	37	chr16	88908345	88908345	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggtgtagaagccattgcgGatgggtagccgtcctgtgag	7	10	17	7	2	0	2	0	1	0	1	1	3	1	3	3	3	3	2	3	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:88908345G>A	ENST00000268695.5	-	3	367	c.279C>T	c.(277-279)atC>atT	p.I93I	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	93						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	AGCCATTGCGGATGGGTAGCC	0.617													6	8					0	0	0	0	A	88908345	G	A	88908345	2	1	328	1	0	0	0	0	0	0	0	1	6255	1164	41	2		2	GALNS	16	88908345	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	255303	88908345	1446408	2004	60218											
DPEP1	1800	broad.mit.edu	37	chr16	89702965	89702965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcggcaggccttccgggaagGgaaggtggccagcctgatcg	7	6	17	11	3	0	1	0	1	0	0	3	3	1	3	4	6	1	1	4	6	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:89702965G>A	ENST00000393092.3	+	5	686	c.395G>A	c.(394-396)gGg>gAg	p.G132E	DPEP1_ENST00000421184.1_Missense_Mutation_p.G132E|DPEP1_ENST00000261615.4_Missense_Mutation_p.G132E	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	132					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	TTCCGGGAAGGGAAGGTGGCC	0.662													26	30					0	0	0	0	A	89702965	G	A	89702965	3	1	328	1	0	0	0	0	1	0	0	0	4749	1232	43	4	409	4	DPEP1	16	89702965	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	794620	89702965	651788	2005	60219											
DBNDD1	79007	broad.mit.edu	37	chr16	90072751	90072751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtggagatggtctagtcctCctggggcctctccacagtga	6	10	14	11	0	2	2	0	1	2	1	5	3	4	2	4	5	0	0	4	5	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:90072751C>T	ENST00000392973.3	-	3	1218	c.487G>A	c.(487-489)Gag>Aag	p.E163K	DBNDD1_ENST00000568838.1_Missense_Mutation_p.E277K|DBNDD1_ENST00000304733.3_Missense_Mutation_p.E177K|DBNDD1_ENST00000002501.6_Missense_Mutation_p.E157K			Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	157						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		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;0.0275)		GTCTAGTCCTCCTGGGGCCTC	0.642													11	8					0	0	0	0	T	90072751	C	T	90072751	3	4	328	1	0	0	0	0	1	0	0	0	4286	864	30	2	11	2	DBNDD1	16	90072751	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	369786	90072751	282002	2006	60220											
C16orf3	750	broad.mit.edu	37	chr16	90095716	90095716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagggatgggggtgacctGgagactcctgccccgcagca	7	5	18	11	1	0	2	0	1	0	1	1	5	1	4	4	5	2	2	4	5	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:90095716G>A	ENST00000408886.2	-	1	593	c.35C>T	c.(34-36)cCa>cTa	p.P12L	GAS8_ENST00000536122.1_Intron|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000268699.4_Intron	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN	chromosome 16 open reading frame 3	12										large_intestine(1)|lung(2)|prostate(1)	4		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		ggggtgacctggagactcctg	0.582													24	43					0	0	0	0	A	90095716	G	A	90095716	3	1	328	1	0	0	0	0	1	0	0	0	1825	1348	47	4	322	4	C16orf3	16	90095716	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	22965	90095716	259037	2007	60221											
PRDM7	11105	broad.mit.edu	37	chr16	90141417	90141417	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgacacatgaaagctggtcGagtggctctgagacctgaaa	12	8	13	8	1	1	4	0	4	1	1	2	6	1	4	1	2	1	2	1	2	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:90141417G>A	ENST00000449207.2	-	3	227	c.208C>T	c.(208-210)Cga>Tga	p.R70*	PRDM7_ENST00000569206.1_5'UTR|PRDM7_ENST00000407825.1_5'UTR	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	70	KRAB-related.					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)		AAAGCTGGTCGAGTGGCTCTG	0.493													16	36					0	0	0	0	A	90141417	G	A	90141417	4	1	328	1	0	0	0	0	0	1	0	0	12541	1066	37	1	1302	1	PRDM7	16	90141417	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	45701	90141417	213336	2008	60222											
C17orf97	400566	broad.mit.edu	37	chr17	263083	263083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcccttctgactcctccaCcgtcagcctccccgactttg	4	11	5	21	2	2	1	1	1	1	0	6	2	6	1	8	0	1	0	8	0	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:263083C>T	ENST00000360127.6	+	2	465	c.449C>T	c.(448-450)aCc>aTc	p.T150I	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	150										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GACTCCTCCACCGTCAGCCTC	0.522													32	59					0	0	0	0	T	263083	C	T	263083	3	4	328	1	0	0	0	0	1	0	0	0	1909	507	18	4		4	C17orf97	17	263083	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08		263083	80932127	2009	60223											
MYO1C	4641	broad.mit.edu	37	chr17	1387540	1387540	+	Missense_Mutation	SNP	G	G	A																															gaaatcctgcacccccacccGgtcacgggcggtgagcgcac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:1387540G>A	ENST00000359786.5	-	2	457	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	MYO1C_ENST00000361007.2_Missense_Mutation_p.R10W|MYO1C_ENST00000438665.2_Missense_Mutation_p.R26W|MYO1C_ENST00000575158.1_Missense_Mutation_p.R10W|MYO1C_ENST00000545534.2_Missense_Mutation_p.R21W	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	45	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCCCCACCCGGTCACGGGCG	0.632													14	26					0	0	0	0	A	1387540	G	A	1387540	3	1	328	1	0	0	0	0	1	0	0	0	10140	1115	39	1	3182	1	MYO1C	17	1387540	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1124457	1387540	79807670	2010	60224	665	2									
MYO1C	4641	broad.mit.edu	37	chr17	1387541	1387541	+	Silent	SNP	G	G	A																															aaatcctgcacccccacccgGtcacgggcggtgagcgcact																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:1387541G>A	ENST00000359786.5	-	2	456	c.132C>T	c.(130-132)gaC>gaT	p.D44D	MYO1C_ENST00000361007.2_Silent_p.D9D|MYO1C_ENST00000438665.2_Silent_p.D25D|MYO1C_ENST00000575158.1_Silent_p.D9D|MYO1C_ENST00000545534.2_Silent_p.D20D	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	44	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCCCACCCGGTCACGGGCGG	0.637													14	26					0	0	0	0	A	1387541	G	A	1387541	2	1	328	1	0	0	0	0	0	0	0	1	10140	1252	44	4		4	MYO1C	17	1387541	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	1387541	79807669	2011	60225	665	2									
SLC43A2	124935	broad.mit.edu	37	chr17	1519990	1519990	+	Nonsense_Mutation	SNP	C	C	T																															tcctgggcctggcagctgagCcagccgttcatccagctcac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:1519990C>T	ENST00000571650.1	-	3	540	c.234G>A	c.(232-234)tgG>tgA	p.W78*	SLC43A2_ENST00000301335.4_Nonsense_Mutation_p.W78*|SLC43A2_ENST00000382147.4_Nonsense_Mutation_p.W78*			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	78					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GGCAGCTGAGCCAGCCGTTCA	0.592													23	38					0	0	0	0	T	1519990	C	T	1519990	4	4	328	1	0	0	0	0	0	1	0	0	14721	740	26	4	1523	4	SLC43A2	17	1519990	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	132449	1519990	79675220	2012	60226	666	2									
SLC43A2	124935	broad.mit.edu	37	chr17	1519991	1519991	+	Nonsense_Mutation	SNP	C	C	T																															cctgggcctggcagctgagcCagccgttcatccagctcacc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:1519991C>T	ENST00000571650.1	-	3	539	c.233G>A	c.(232-234)tGg>tAg	p.W78*	SLC43A2_ENST00000301335.4_Nonsense_Mutation_p.W78*|SLC43A2_ENST00000382147.4_Nonsense_Mutation_p.W78*			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	78					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GCAGCTGAGCCAGCCGTTCAT	0.597													24	38					0	0	0	0	T	1519991	C	T	1519991	4	4	328	1	0	0	0	0	0	1	0	0	14721	595	21	4	1524	4	SLC43A2	17	1519991	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	1519991	79675219	2013	60227	666	2									
RTN4RL1	146760	broad.mit.edu	37	chr17	1840275	1840275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcccaggggacacacaggGgacagcggagctggagcccc	10	1	16	14	1	0	0	0	0	0	0	0	4	0	4	3	6	4	1	3	6	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:1840275G>A	ENST00000331238.5	-	2	859	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	281	LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GACACACAGGGGACAGCGGAG	0.682													3	10					0	0	0	0	A	1840275	G	A	1840275	3	1	328	1	0	0	0	0	1	0	0	0	13816	1232	43	4	488	4	RTN4RL1	17	1840275	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	320284	1840275	79354935	2014	60228											
OR1G1	8390	broad.mit.edu	37	chr17	3030838	3030838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgctggtcagatttttcCcctccatttgtctgtaggaa	8	15	9	9	0	2	2	1	0	1	2	4	3	4	3	3	2	1	2	3	2	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:3030838C>T	ENST00000328890.2	-	1	37	c.8G>A	c.(7-9)gGg>gAg	p.G3E		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CAGATTTTTCCCCTCCATTTG	0.463													35	12					0	0	0	0	T	3030838	C	T	3030838	3	4	328	1	0	0	0	0	1	0	0	0	11028	623	22	4	937	4	OR1G1	17	3030838	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1190563	3030838	78164372	2015	60229											
ANKFY1	51479	broad.mit.edu	37	chr17	4085590	4085590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcatatggcatcaactacGagtggaagctggtttctgat	10	12	12	7	1	2	1	1	1	1	0	2	3	2	2	0	3	4	4	0	3	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4085590G>A	ENST00000341657.4	-	15	2042	c.2007C>T	c.(2005-2007)ctC>ctT	p.L669L	ANKFY1_ENST00000570535.1_Silent_p.L711L|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Silent_p.L670L	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	669						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CATCAACTACGAGTGGAAGCT	0.557													52	107					0	0	0	0	A	4085590	G	A	4085590	2	1	328	1	0	0	0	0	0	0	0	1	626	1045	37	1		1	ANKFY1	17	4085590	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1054752	4085590	77109620	2016	60230											
SPNS2	124976	broad.mit.edu	37	chr17	4439592	4439592	+	Missense_Mutation	SNP	C	C	T																															ccgccagagcactaaggactCcccgctctgggagttcctga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4439592C>T	ENST00000329078.3	+	11	1688	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	493					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						ACTAAGGACTCCCCGCTCTGG	0.637													20	49					0	0	0	0	T	4439592	C	T	4439592	3	4	328	1	0	0	0	0	1	0	0	0	15165	855	30	2	1520	2	SPNS2	17	4439592	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	354002	4439592	76755618	2017	60231	667	2									
SPNS2	124976	broad.mit.edu	37	chr17	4439593	4439593	+	Silent	SNP	C	C	T																															cgccagagcactaaggactcCccgctctgggagttcctgag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4439593C>T	ENST00000329078.3	+	11	1689	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	493					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CTAAGGACTCCCCGCTCTGGG	0.642													20	50					0	0	0	0	T	4439593	C	T	4439593	2	4	328	1	0	0	0	0	0	0	0	1	15165	610	22	4		4	SPNS2	17	4439593	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	4439593	76755617	2018	60232	667	2									
CXCL16	58191	broad.mit.edu	37	chr17	4638418	4638418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcggtgactgccccctcctCctcttgcacagcacatagga	7	9	9	16	1	1	1	0	1	1	0	3	2	3	2	4	2	4	2	4	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4638418C>T	ENST00000293778.6	-	4	1166	c.744G>A	c.(742-744)agG>agA	p.R248R	CXCL16_ENST00000576153.1_5'UTR|CXCL16_ENST00000574412.1_Silent_p.R248R	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	229					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						GCCCCCTCCTCCTCTTGCACA	0.612													24	21					0	0	0	0	T	4638418	C	T	4638418	2	4	328	1	0	0	0	0	0	0	0	1	4115	854	30	2		2	CXCL16	17	4638418	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	198825	4638418	76556792	2019	60233											
KIF1C	10749	broad.mit.edu	37	chr17	4923830	4923830	+	Silent	SNP	C	C	T																															aaccacgttttccgcttcaaCcacccggagcaggcaaggct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4923830C>T	ENST00000320785.5	+	20	2151	c.1794C>T	c.(1792-1794)aaC>aaT	p.N598N	KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	598					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCCGCTTCAACCACCCGGAGC	0.582													20	41					0	0	0	0	T	4923830	C	T	4923830	2	4	328	1	0	0	0	0	0	0	0	1	8336	506	18	4		4	KIF1C	17	4923830	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	285412	4923830	76271380	2020	60234	668	2									
KIF1C	10749	broad.mit.edu	37	chr17	4923831	4923831	+	Missense_Mutation	SNP	C	C	T																															accacgttttccgcttcaacCacccggagcaggcaaggctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4923831C>T	ENST00000320785.5	+	20	2152	c.1795C>T	c.(1795-1797)Cac>Tac	p.H599Y	KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	599					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCGCTTCAACCACCCGGAGCA	0.577													20	40					0	0	0	0	T	4923831	C	T	4923831	3	4	328	1	0	0	0	0	1	0	0	0	8336	594	21	4	1865	4	KIF1C	17	4923831	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	4923831	76271379	2021	60235	668	2									
NEURL4	84461	broad.mit.edu	37	chr17	7221174	7221174	+	Missense_Mutation	SNP	G	G	A																															aggctcccctctgcgcctgtGggcctcgtctcctcgcagct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7221174G>A	ENST00000399464.2	-	26	4153	c.4138C>T	c.(4138-4140)Cac>Tac	p.H1380Y	NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000315614.7_Missense_Mutation_p.H1378Y|RP11-542C16.2_ENST00000575474.1_Silent_p.P193P|NEURL4_ENST00000570460.1_Missense_Mutation_p.H1356Y	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCGCCTGTGGGCCTCGTCT	0.587													31	26					0	0	0	0	A	7221174	G	A	7221174	3	1	328	1	0	0	0	0	1	0	0	0	10417	1348	47	4	566	4	NEURL4	17	7221174	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2297343	7221174	73974036	2022	60236	669	2									
GPS2	2874	broad.mit.edu	37	chr17	7221175	7221175	+	Missense_Mutation	SNP	G	G	T																															ggctcccctctgcgcctgtgGgcctcgtctcctcgcagctt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7221175G>T	ENST00000575474.1	-	5	577	c.578C>A	c.(577-579)cCc>cAc	p.P193H	NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000315614.7_Silent_p.A1377A|NEURL4_ENST00000399464.2_Silent_p.A1379A|NEURL4_ENST00000570460.1_Silent_p.A1355A																							TGCGCCTGTGGGCCTCGTCTC	0.582													31	27					9.65021e-13	9.78196e-13	1	0	T	7221175	G	T	7221175	3	4	328	1	0	0	0	0	1	0	0	0	6783	1219	43	4		4	GPS2	17	7221175	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	7221175	73974035	2023	60237	669	2									
TP53	7157	broad.mit.edu	37	chr17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtgcgccggtctctcccagGacaggcacaaacacgcacct	9	6	10	16	3	1	0	0	0	1	0	3	1	2	1	3	3	2	2	3	3	1	0	rs17849781		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7577106G>A	ENST00000420246.2	-	8	964	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCTCCCAGGACAGGCACAA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	6					0	0	0	0	A	7577106	G	A	7577106	3	1	328	1	0	0	0	0	1	0	0	0	16476	1174	41	2	454	2	TP53	17	7577106	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	355931	7577106	73618104	2024	60238											
DNAH2	146754	broad.mit.edu	37	chr17	7667304	7667304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcagggagatggctgctgGgcgcctcctggagctgcaca	6	7	16	12	1	1	1	1	0	0	1	2	3	2	2	2	4	3	5	2	4	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7667304G>A	ENST00000572933.1	+	19	4594	c.3134G>A	c.(3133-3135)gGg>gAg	p.G1045E	DNAH2_ENST00000389173.2_Missense_Mutation_p.G1045E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1045	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGGCTGCTGGGCGCCTCCTG	0.622													26	48					0	0	0	0	A	7667304	G	A	7667304	3	1	328	1	0	0	0	0	1	0	0	0	4639	1232	43	4	3204	4	DNAH2	17	7667304	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	90198	7667304	73527906	2025	60239											
DNAH2	146754	broad.mit.edu	37	chr17	7721167	7721167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggattaagaacatggaagGaggccaggtgtgaggctggg	12	7	18	4	0	0	2	0	1	0	1	0	5	0	5	1	7	1	1	1	7	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7721167G>A	ENST00000572933.1	+	67	11689	c.10229G>A	c.(10228-10230)gGa>gAa	p.G3410E	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3410E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3410	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AACATGGAAGGAGGCCAGGTG	0.622													19	44					0	0	0	0	A	7721167	G	A	7721167	3	1	328	1	0	0	0	0	1	0	0	0	4639	1174	41	2	10491	2	DNAH2	17	7721167	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	53863	7721167	73474043	2026	60240											
TMEM88	92162	broad.mit.edu	37	chr17	7758820	7758820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcgggaccccggtttcacgGccctactggtcaccggattc	5	9	12	15	4	2	0	2	0	0	0	3	2	2	2	4	5	2	1	4	5	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7758820G>A	ENST00000301599.6	+	2	278	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	TMEM88_ENST00000574668.1_Intron	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	90						integral to membrane				lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				CGGTTTCACGGCCCTACTGGT	0.687													22	41					0	0	0	0	A	7758820	G	A	7758820	3	1	328	1	0	0	0	0	1	0	0	0	16306	1203	42	4	274	4	TMEM88	17	7758820	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	37653	7758820	73436390	2027	60241											
GUCY2D	3000	broad.mit.edu	37	chr17	7907313	7907313	+	Missense_Mutation	SNP	C	C	T																															actacgccttgtccccaggcCcggaggccttggccgcactc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7907313C>T	ENST00000254854.4	+	3	1015	c.865C>T	c.(865-867)Ccg>Tcg	p.P289S		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	289					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GTCCCCAGGCCCGGAGGCCTT	0.682													89	29					0	0	0	0	T	7907313	C	T	7907313	3	4	328	1	0	0	0	0	1	0	0	0	6947	623	22	4	871	4	GUCY2D	17	7907313	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	148493	7907313	73287897	2028	60242	670	2									
GUCY2D	3000	broad.mit.edu	37	chr17	7907314	7907314	+	Missense_Mutation	SNP	C	C	T																															ctacgccttgtccccaggccCggaggccttggccgcactcg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7907314C>T	ENST00000254854.4	+	3	1016	c.866C>T	c.(865-867)cCg>cTg	p.P289L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	289					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TCCCCAGGCCCGGAGGCCTTG	0.682													88	30					0	0	0	0	T	7907314	C	T	7907314	3	4	328	1	0	0	0	0	1	0	0	0	6947	652	23	1	872	1	GUCY2D	17	7907314	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	7907314	73287896	2029	60243	670	2									
MYH10	4628	broad.mit.edu	37	chr17	8398529	8398529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acccttcttctctgcttcttCcagaagggtggagacattat	8	14	8	11	0	3	2	0	0	3	2	5	3	4	2	2	2	1	1	2	2	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:8398529C>T	ENST00000360416.3	-	31	4120	c.3982G>A	c.(3982-3984)Gaa>Aaa	p.E1328K	MYH10_ENST00000396239.1_Missense_Mutation_p.E1318K|MYH10_ENST00000379980.4_Missense_Mutation_p.E1313K|MYH10_ENST00000269243.4_Missense_Mutation_p.E1297K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1297					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTGCTTCTTCCAGAAGGGTG	0.423													22	43					0	0	0	0	T	8398529	C	T	8398529	3	4	328	1	0	0	0	0	1	0	0	0	10100	864	30	2	2093	2	MYH10	17	8398529	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	491215	8398529	72796681	2030	60244											
PIK3R5	23533	broad.mit.edu	37	chr17	8785188	8785188	+	Missense_Mutation	SNP	C	C	T																															tgctccagcgacttcgtccaCtgatggccccctggaaatgc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:8785188C>T	ENST00000447110.1	-	16	2340	c.2216G>A	c.(2215-2217)aGt>aAt	p.S739N	PIK3R5_ENST00000581552.1_Missense_Mutation_p.S739N|PIK3R5_ENST00000584803.1_Missense_Mutation_p.S738N	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	739	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ACTTCGTCCACTGATGGCCCC	0.612													10	13					0	0	0	0	T	8785188	C	T	8785188	3	4	328	1	0	0	0	0	1	0	0	0	11994	565	20	4	442	4	PIK3R5	17	8785188	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	386659	8785188	72410022	2031	60245	671	2									
PIK3R5	23533	broad.mit.edu	37	chr17	8785189	8785189	+	Missense_Mutation	SNP	T	T	G																															gctccagcgacttcgtccacTgatggccccctggaaatgca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:8785189T>G	ENST00000447110.1	-	16	2339	c.2215A>C	c.(2215-2217)Agt>Cgt	p.S739R	PIK3R5_ENST00000581552.1_Missense_Mutation_p.S739R|PIK3R5_ENST00000584803.1_Missense_Mutation_p.S738R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	739	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTTCGTCCACTGATGGCCCCC	0.612													9	13					0	0	0	0	G	8785189	T	G	8785189	3	3	328	1	0	0	0	0	1	0	0	0	11994	1580	55	5	443	5	PIK3R5	17	8785189	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1	8785189	72410021	2032	60246	671	2									
WDR16	146845	broad.mit.edu	37	chr17	9536340	9536340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagggtcatcagtggcggtgGggaaggggaggtattgaaag	11	7	20	3	1	2	1	2	1	0	0	2	3	2	3	0	8	0	1	0	8	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:9536340G>A	ENST00000352665.5	+	10	1379	c.1310G>A	c.(1309-1311)gGg>gAg	p.G437E	WDR16_ENST00000396219.3_Missense_Mutation_p.G369E|WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000299764.5_Missense_Mutation_p.G447E	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	437						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AGTGGCGGTGGGGAAGGGGAG	0.463													29	28					0	0	0	0	A	9536340	G	A	9536340	3	1	328	1	0	0	0	0	1	0	0	0	17372	1232	43	4	1348	4	WDR16	17	9536340	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	751151	9536340	71658870	2033	60247											
MYH13	8735	broad.mit.edu	37	chr17	10248557	10248557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcagccaggtccattcCgaagtcaatgaactcccact	11	7	9	14	1	1	1	1	1	0	0	4	2	4	1	4	2	2	2	4	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10248557C>T	ENST00000418404.3	-	14	1709	c.1546G>A	c.(1546-1548)Gga>Aga	p.G516R	MYH13_ENST00000570743.1_Missense_Mutation_p.G516R|MYH13_ENST00000252172.4_Missense_Mutation_p.G516R			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	516	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGTCCATTCCGAAGTCAATG	0.527													40	84					0	0	0	0	T	10248557	C	T	10248557	3	4	328	1	0	0	0	0	1	0	0	0	10102	661	23	1	4378	1	MYH13	17	10248557	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	712217	10248557	70946653	2034	60248											
MYH8	4626	broad.mit.edu	37	chr17	10304745	10304745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtttcatccaggcctgcCatctcttctgtaagattttt	7	17	7	10	0	3	1	1	0	2	1	5	1	4	1	3	2	1	2	3	2	1	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10304745C>T	ENST00000403437.2	-	24	3049	c.2955G>A	c.(2953-2955)atG>atA	p.M985I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	985					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCAGGCCTGCCATCTCTTCTG	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				55	84					0	0	0	0	T	10304745	C	T	10304745	3	4	328	1	0	0	0	0	1	0	0	0	10111	594	21	4	2926	4	MYH8	17	10304745	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	56188	10304745	70890465	2035	60249											
MYH4	4622	broad.mit.edu	37	chr17	10354709	10354709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taagcgttgttgctcttcttCctttgtttttatttcactaa	6	22	5	8	1	3	0	1	0	2	0	4	0	4	0	1	0	2	4	1	0	3	11			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10354709C>T	ENST00000255381.2	-	28	3909	c.3799G>A	c.(3799-3801)Gaa>Aaa	p.E1267K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1267					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCTCTTCTTCCTTTGTTTTT	0.423													27	59					0	0	0	0	T	10354709	C	T	10354709	3	4	328	1	0	0	0	0	1	0	0	0	10107	864	30	2	2072	2	MYH4	17	10354709	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	49964	10354709	70840501	2036	60250											
MYH1	4619	broad.mit.edu	37	chr17	10401082	10401082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctttgctttttgtccaggGcggcacaggcagcatttgtc	5	14	11	11	1	0	0	0	0	0	0	3	0	2	0	2	3	2	4	2	3	0	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10401082G>A	ENST00000226207.5	-	31	4428	c.4334C>T	c.(4333-4335)gCc>gTc	p.A1445V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1445			A -> T (in a breast cancer sample; somatic mutation).			muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTGTCCAGGGCGGCACAGGC	0.448													34	68					0	0	0	0	A	10401082	G	A	10401082	3	1	328	1	0	0	0	0	1	0	0	0	10099	1203	42	4	1525	4	MYH1	17	10401082	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	46373	10401082	70794128	2037	60251											
MYH1	4619	broad.mit.edu	37	chr17	10408142	10408142	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcacagcttgaacctggagTtgcaagtcatttttttcttg	8	16	8	9	0	3	1	2	1	1	0	3	2	3	2	1	1	3	3	1	1	2	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10408142T>C	ENST00000226207.5	-	22	2770	c.2676A>G	c.(2674-2676)caA>caG	p.Q892Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	892						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAACCTGGAGTTGCAAGTCAT	0.408													15	25					0	0	0	0	C	10408142	T	C	10408142	2	2	328	1	0	0	0	0	0	0	0	1	10099	1722	60	5		5	MYH1	17	10408142	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	7060	10408142	70787068	2038	60252											
MYH2	4620	broad.mit.edu	37	chr17	10430364	10430364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttttcatcaagctggcgtGaaaactcacctgatggacaa	12	10	8	11	1	3	2	3	2	0	0	3	3	3	3	2	2	2	1	2	2	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10430364G>A	ENST00000245503.5	-	29	4265	c.3881C>T	c.(3880-3882)tCa>tTa	p.S1294L	MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.S1294L|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1294					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAGCTGGCGTGAAAACTCACC	0.388													22	35					0	0	0	0	A	10430364	G	A	10430364	3	1	328	1	0	0	0	0	1	0	0	0	10105	1294	45	2	1992	2	MYH2	17	10430364	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	22222	10430364	70764846	2039	60253											
MYH2	4620	broad.mit.edu	37	chr17	10440653	10440653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagggggtccttgttcttCtccagccagccagtaatgtt	6	14	10	11	0	3	0	1	0	2	0	5	0	4	0	4	2	2	3	4	2	1	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10440653C>T	ENST00000245503.5	-	16	2178	c.1794G>A	c.(1792-1794)gaG>gaA	p.E598E	MYH2_ENST00000532183.1_Silent_p.E598E|MYH2_ENST00000397183.2_Silent_p.E598E|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	598	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTTGTTCTTCTCCAGCCAGC	0.522													58	98					0	0	0	0	T	10440653	C	T	10440653	2	4	328	1	0	0	0	0	0	0	0	1	10105	912	32	2		2	MYH2	17	10440653	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	10289	10440653	70754557	2040	60254											
MYH3	4621	broad.mit.edu	37	chr17	10543053	10543053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctccttgatcttggcctCgagctggaatttggctttga	6	14	10	11	1	1	2	0	2	1	0	3	4	2	3	3	3	1	2	3	3	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10543053C>T	ENST00000583535.1	-	23	2836	c.2749G>A	c.(2749-2751)Gag>Aag	p.E917K	MYH3_ENST00000226209.7_Missense_Mutation_p.E917K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	917					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ATCTTGGCCTCGAGCTGGAAT	0.438													71	92					0	0	0	0	T	10543053	C	T	10543053	3	4	328	1	0	0	0	0	1	0	0	0	10106	893	31	1	3149	1	MYH3	17	10543053	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	102400	10543053	70652157	2041	60255											
MYH3	4621	broad.mit.edu	37	chr17	10558267	10558267	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctttgagtccaccacgaAgcaatacgtcttggcatcaa	11	11	7	12	2	2	1	1	1	1	0	4	2	4	1	3	1	2	2	3	1	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10558267A>G	ENST00000583535.1	-	3	202	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L	MYH3_ENST00000226209.7_Missense_Mutation_p.F39L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	39	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCCACCACGAAGCAATACGTC	0.498													68	111					0	0	0	0	G	10558267	A	G	10558267	3	3	328	1	0	0	0	0	1	0	0	0	10106	72	3	5	5863	5	MYH3	17	10558267	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	15214	10558267	70636943	2042	60256											
DNAH9	1770	broad.mit.edu	37	chr17	11520910	11520910	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctgactgtgctgctcCaggagatttgcaaccttctc	8	11	11	11	0	1	2	0	1	1	1	3	4	2	2	2	2	4	4	2	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:11520910C>T	ENST00000262442.3	+	5	1155	c.1087C>T	c.(1087-1089)Cag>Tag	p.Q363*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Q363*|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	363	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGTGCTGCTCCAGGAGATTTG	0.622													31	53					0	0	0	0	T	11520910	C	T	11520910	4	4	328	1	0	0	0	0	0	1	0	0	4644	595	21	4	1105	4	DNAH9	17	11520910	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	962643	11520910	69674300	2043	60257											
TBC1D26	353149	broad.mit.edu	37	chr17	15638708	15638708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgcctgcccaggggcaaGgcaatatcatcattactaag	12	8	9	12	0	2	0	2	0	0	0	2	0	2	0	3	3	3	2	3	3	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:15638708G>A	ENST00000437605.2	+	3	296	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	TBC1D26_ENST00000579428.1_Missense_Mutation_p.G16S|ZNF286A_ENST00000413242.2_Intron|ZNF286A_ENST00000593105.1_3'UTR|AC005324.6_ENST00000434017.1_RNA	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	16						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CCAGGGGCAAGGCAATATCAT	0.582													44	59					0	0	0	0	A	15638708	G	A	15638708	3	1	328	1	0	0	0	0	1	0	0	0	15707	1000	35	4	48	4	TBC1D26	17	15638708	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4117798	15638708	65556502	2044	60258											
NCOR1	9611	broad.mit.edu	37	chr17	15938100	15938100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgttgaagagggcctgtcttCccaggcccaccctggcgtct	5	10	12	14	1	2	2	0	1	2	1	3	2	3	2	4	3	0	1	4	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:15938100C>T	ENST00000268712.3	-	45	7371	c.7114G>A	c.(7114-7116)Gaa>Aaa	p.E2372K	NCOR1_ENST00000395857.3_Missense_Mutation_p.E956K|NCOR1_ENST00000395851.1_Missense_Mutation_p.E2269K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2372	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGCCTGTCTTCCCAGGCCCAC	0.458													39	59					0	0	0	0	T	15938100	C	T	15938100	3	4	328	1	0	0	0	0	1	0	0	0	10305	864	30	2	216	2	NCOR1	17	15938100	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	299392	15938100	65257110	2045	60259											
COPS3	8533	broad.mit.edu	37	chr17	17163629	17163629	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcacctttgttagcctctGaatattcttcttataaagag	10	16	5	10	0	4	2	1	1	3	1	4	2	4	2	3	0	1	1	3	0	6	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:17163629G>A	ENST00000539941.2	-	8	1070	c.862C>T	c.(862-864)Cag>Tag	p.Q288*	COPS3_ENST00000439936.2_Intron|COPS3_ENST00000268717.5_Nonsense_Mutation_p.Q308*	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	308	PCI.				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GTTAGCCTCTGAATATTCTTC	0.493													38	58					0	0	0	0	A	17163629	G	A	17163629	4	1	328	1	0	0	0	0	0	1	0	0	3764	1299	45	2	369	2	COPS3	17	17163629	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1225529	17163629	64031581	2046	60260											
RAI1	10743	broad.mit.edu	37	chr17	17696587	17696587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaggacagcagcccctacCcaggccgctatgctggtgag	8	6	12	15	1	0	1	0	1	0	0	1	2	1	2	5	3	4	3	5	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:17696587C>T	ENST00000353383.1	+	3	794	c.325C>T	c.(325-327)Cca>Tca	p.P109S	RAI1_ENST00000261641.6_Missense_Mutation_p.P109S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	109						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAGCCCCTACCCAGGCCGCTA	0.677													15	16					0	0	0	0	T	17696587	C	T	17696587	3	4	328	1	0	0	0	0	1	0	0	0	13089	623	22	4	327	4	RAI1	17	17696587	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	532958	17696587	63498623	2047	60261											
RAI1	10743	broad.mit.edu	37	chr17	17699919	17699919	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagctctctgaccggcccctCcatgcgctcaaaaggaagtc	10	7	9	15	2	2	1	1	1	1	0	5	2	3	2	4	2	2	2	4	2	4	0	rs140500933		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:17699919C>T	ENST00000353383.1	+	3	4126	c.3657C>T	c.(3655-3657)ctC>ctT	p.L1219L	RAI1_ENST00000261641.6_Silent_p.L1219L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1219						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCGGCCCCTCCATGCGCTCA	0.652													18	35					0	0	0	0	T	17699919	C	T	17699919	2	4	328	1	0	0	0	0	0	0	0	1	13089	842	30	2		2	RAI1	17	17699919	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3332	17699919	63495291	2048	60262											
RAI1	10743	broad.mit.edu	37	chr17	17701185	17701185	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctcgtcctcgttctcCttggatgcagccggggcctc	3	12	10	16	3	2	0	1	0	1	0	8	1	4	1	5	3	2	2	5	3	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:17701185C>T	ENST00000353383.1	+	3	5392	c.4923C>T	c.(4921-4923)tcC>tcT	p.S1641S	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1641	Ser-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		cctcgttctcctTGGATGCAG	0.647													22	37					0	0	0	0	T	17701185	C	T	17701185	2	4	328	1	0	0	0	0	0	0	0	1	13089	668	24	4		4	RAI1	17	17701185	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1266	17701185	63494025	2049	60263											
MYO15A	51168	broad.mit.edu	37	chr17	18069767	18069767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctacatgctctggttcCggcgtgtgctctgggatcag	4	11	15	11	3	3	0	1	0	2	0	4	1	4	1	1	4	3	4	1	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:18069767C>T	ENST00000205890.5	+	61	10218	c.9880C>T	c.(9880-9882)Cgg>Tgg	p.R3294W	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3294	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCTGGTTCCGGCGTGTGCT	0.577													60	75					0	0	0	0	T	18069767	C	T	18069767	3	4	328	1	0	0	0	0	1	0	0	0	10133	643	23	1	10114	1	MYO15A	17	18069767	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	368582	18069767	63125443	2050	60264											
ZNF286B	729288	broad.mit.edu	37	chr17	18565299	18565299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgtctgatgagagatgaaCtgcacttaaagcttttccca	12	12	9	8	0	1	4	0	3	1	1	2	6	2	4	1	0	3	2	1	0	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:18565299C>T	ENST00000545289.1	-	5	1770	c.1520G>A	c.(1519-1521)aGt>aAt	p.S507N		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GAGAGATGAACTGCACTTAAA	0.358													27	51					0	0	0	0	T	18565299	C	T	18565299	3	4	328	1	0	0	0	0	1	0	0	0	17919	565	20	4	52	4	ZNF286B	17	18565299	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	495532	18565299	62629911	2051	60265											
TMEM97	27346	broad.mit.edu	37	chr17	26653748	26653748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgccccctacttactcatcCcattcatacttttaattttc	9	17	1	14	0	2	0	2	0	0	0	4	0	3	0	3	0	4	0	3	0	4	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:26653748C>T	ENST00000226230.6	+	3	605	c.460C>T	c.(460-462)Cca>Tca	p.P154S	TMEM97_ENST00000336687.6_Missense_Mutation_p.P47S|TMEM97_ENST00000583381.1_Missense_Mutation_p.P47S	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	154					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding			endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CTTACTCATCCCATTCATACT	0.428													18	25					0	0	0	0	T	26653748	C	T	26653748	3	4	328	1	0	0	0	0	1	0	0	0	16318	623	22	4	470	4	TMEM97	17	26653748	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	8088449	26653748	54541462	2052	60266											
FOXN1	8456	broad.mit.edu	37	chr17	26861462	26861462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcaagggctgcctgtgggcCctcaatccggccaagatcga	8	6	13	14	3	1	1	1	0	0	1	3	2	2	1	4	3	1	2	4	3	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:26861462C>T	ENST00000226247.2	+	6	1070	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	FOXN1_ENST00000579795.1_Silent_p.A347A	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	347					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GCCTGTGGGCCCTCAATCCGG	0.537													22	39					0	0	0	0	T	26861462	C	T	26861462	2	4	328	1	0	0	0	0	0	0	0	1	6066	610	22	4		4	FOXN1	17	26861462	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	207714	26861462	54333748	2053	60267											
SGK494	124923	broad.mit.edu	37	chr17	26939672	26939672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttccctgccagctgtcccCcaagctgtgtacaaagggat	8	11	9	13	0	0	0	0	0	0	0	2	1	2	1	4	1	4	3	4	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:26939672C>T	ENST00000301037.5	-	5	510	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	SGK494_ENST00000469832.3_5'UTR|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_Intron	NM_001174103.1	NP_001167574.1																					CAGCTGTCCCCCAAGCTGTGT	0.488													8	29					0	0	0	0	T	26939672	C	T	26939672	3	4	328	1	0	0	0	0	1	0	0	0	14300	623	22	4	753	4	SGK494	17	26939672	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	78210	26939672	54255538	2054	60268											
KIAA0100	9703	broad.mit.edu	37	chr17	26964946	26964946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attccccaaatgaagagtgcCtagagacagctgacttccca	13	8	8	12	0	0	4	0	2	0	2	2	5	2	4	4	0	2	1	4	0	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:26964946C>T	ENST00000528896.2	-	14	1753	c.1679G>A	c.(1678-1680)aGg>aAg	p.R560K	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R417K|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R417K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	560						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGAAGAGTGCCTAGAGACAGC	0.478													21	28					0	0	0	0	T	26964946	C	T	26964946	3	4	328	1	0	0	0	0	1	0	0	0	8205	681	24	4	5132	4	KIAA0100	17	26964946	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	25274	26964946	54230264	2055	60269											
PHF12	57649	broad.mit.edu	37	chr17	27240231	27240231	+	Missense_Mutation	SNP	G	G	A																															gttcagagtcccaatgcgaaGgcatctgcttagcagataaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:27240231G>A	ENST00000577226.1	-	9	1704	c.1358C>T	c.(1357-1359)cCt>cTt	p.P453L	PHF12_ENST00000332830.4_Missense_Mutation_p.P453L|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.P453L			Q96QT6	PHF12_HUMAN	PHD finger protein 12	453	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCAATGCGAAGGCATCTGCTT	0.498													53	77					0	0	0	0	A	27240231	G	A	27240231	3	1	328	1	0	0	0	0	1	0	0	0	11895	1000	35	4	1710	4	PHF12	17	27240231	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	275285	27240231	53954979	2056	60270	672	2									
PHF12	57649	broad.mit.edu	37	chr17	27240232	27240232	+	Missense_Mutation	SNP	G	G	A																															ttcagagtcccaatgcgaagGcatctgcttagcagataaat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:27240232G>A	ENST00000577226.1	-	9	1703	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	PHF12_ENST00000332830.4_Missense_Mutation_p.P453S|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.P453S			Q96QT6	PHF12_HUMAN	PHD finger protein 12	453	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAATGCGAAGGCATCTGCTTA	0.498													53	76					0	0	0	0	A	27240232	G	A	27240232	3	1	328	1	0	0	0	0	1	0	0	0	11895	1203	42	4	1711	4	PHF12	17	27240232	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	27240232	53954978	2057	60271	672	2									
TBC1D29	26083	broad.mit.edu	37	chr17	28889931	28889931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacatggggacctgccaccCccaggtgggctccagtacca	10	5	11	15	0	0	0	0	0	0	0	1	1	1	1	6	4	3	2	6	4	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:28889931C>T	ENST00000580161.1	+	5	2720	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	TBC1D29_ENST00000584297.1_Intron|TBC1D29_ENST00000579181.1_Missense_Mutation_p.P75S			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	75						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				ACCTGCCACCCCCAGGTGGGC	0.522													24	44					0	0	0	0	T	28889931	C	T	28889931	3	4	328	1	0	0	0	0	1	0	0	0	15709	623	22	4	237	4	TBC1D29	17	28889931	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1649699	28889931	52305279	2058	60272											
RNF135	84282	broad.mit.edu	37	chr17	29324271	29324271	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttacttaggagaactcctgGaagccccgtcttcctcctca	8	11	8	14	1	2	1	1	0	1	1	5	3	5	2	5	2	3	1	5	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:29324271G>A	ENST00000535306.2	+	5	770	c.756G>A	c.(754-756)tgG>tgA	p.W252*	RNF135_ENST00000443677.2_Nonsense_Mutation_p.W128*|RNF135_ENST00000324689.4_Nonsense_Mutation_p.W176*|RNF135_ENST00000328381.5_Missense_Mutation_p.E231K	NM_001184992.1	NP_001171921.1	Q8IUD6	RN135_HUMAN	ring finger protein 135	0	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				AGAACTCCTGGAAGCCCCGTC	0.483													34	50					0	0	0	0	A	29324271	G	A	29324271	4	1	328	1	0	0	0	0	0	1	0	0	13525	1184	41	2	774	2	RNF135	17	29324271	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	434340	29324271	51870939	2059	60273											
NF1	4763	broad.mit.edu	37	chr17	29665123	29665123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagcaaacgagtgtctcatgGgcagataaagcagataatcc	15	8	10	8	1	1	2	1	0	1	2	3	3	2	2	1	1	3	3	1	1	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:29665123G>A	ENST00000358273.4	+	45	7168	c.6785G>A	c.(6784-6786)gGg>gAg	p.G2262E	NF1_ENST00000356175.3_Missense_Mutation_p.G2241E|NF1_ENST00000444181.2_Missense_Mutation_p.G55E|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2262					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTGTCTCATGGGCAGATAAAG	0.398			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			66	110					0	0	0	0	A	29665123	G	A	29665123	3	1	328	1	0	0	0	0	1	0	0	0	10426	1232	43	4	7024	4	NF1	17	29665123	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	340852	29665123	51530087	2060	60274											
CCL8	6355	broad.mit.edu	37	chr17	32647334	32647334	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctttaacgtgatcaatagGaaaattcctatccagaggct	13	12	8	8	1	1	2	1	1	0	1	3	3	3	3	2	2	2	2	2	2	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:32647334G>A	ENST00000394620.1	+	2	589	c.123G>A	c.(121-123)agG>agA	p.R41R		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	41					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TGATCAATAGGAAAATTCCTA	0.448													18	30					0	0	0	0	A	32647334	G	A	32647334	2	1	328	1	0	0	0	0	0	0	0	1	2936	1165	41	2		2	CCL8	17	32647334	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2982211	32647334	48547876	2061	60275											
CCT6B	10693	broad.mit.edu	37	chr17	33269644	33269644	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttctgcagtcttataaaaGaaaccagagttcacctctct	12	13	5	11	0	5	2	1	0	4	2	6	2	5	2	2	0	2	2	2	0	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:33269644G>A	ENST00000314144.5	-	7	859	c.744C>T	c.(742-744)ttC>ttT	p.F248F	CCT6B_ENST00000421975.3_Silent_p.F211F|CCT6B_ENST00000436961.3_Silent_p.F203F	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	248					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TCTTATAAAAGAAACCAGAGT	0.328													17	28					0	0	0	0	A	33269644	G	A	33269644	2	1	328	1	0	0	0	0	0	0	0	1	2987	933	33	2		2	CCT6B	17	33269644	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	622310	33269644	47925566	2062	60276											
TAF15	8148	broad.mit.edu	37	chr17	34149697	34149697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactatggtcaacaagattCatatgaccagcagtcaggct	14	9	9	9	0	3	3	3	1	0	2	3	3	3	3	1	2	2	2	1	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:34149697C>T	ENST00000588240.1	+	6	459	c.344C>T	c.(343-345)tCa>tTa	p.S115L	AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000311979.3_Missense_Mutation_p.S112L|AC015849.19_ENST00000588415.1_RNA|TAF15_ENST00000592237.1_Missense_Mutation_p.S24L	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	115	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CAACAAGATTCATATGACCAG	0.413			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								19	18					0	0	0	0	T	34149697	C	T	34149697	3	4	328	1	0	0	0	0	1	0	0	0	15609	838	29	2	366	2	TAF15	17	34149697	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	880053	34149697	47045513	2063	60277											
MRM1	79922	broad.mit.edu	37	chr17	34964823	34964823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggctgtcttcaggccCagagaaagagaggcaaaatg	13	5	13	10	0	2	2	1	0	1	2	2	4	2	2	2	3	0	2	2	3	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:34964823C>T	ENST00000250156.7	+	5	1273	c.1034C>T	c.(1033-1035)cCa>cTa	p.P345L	MRM1_ENST00000585770.1_Missense_Mutation_p.P150L	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	345					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCTTCAGGCCCAGAGAAAGAG	0.617													29	70					0	0	0	0	T	34964823	C	T	34964823	3	4	328	1	0	0	0	0	1	0	0	0	9841	594	21	4	1052	4	MRM1	17	34964823	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	815126	34964823	46230387	2064	60278											
SYNRG	11276	broad.mit.edu	37	chr17	35913449	35913449	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccactgctttctctcccagGgatttgtccgagtttatgga	6	14	10	11	1	1	0	0	0	1	0	4	3	3	2	3	2	1	2	3	2	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:35913449G>A	ENST00000339208.6	-	14	2516	c.2376C>T	c.(2374-2376)tcC>tcT	p.S792S	SYNRG_ENST00000502449.2_Silent_p.S714S|SYNRG_ENST00000585472.1_Silent_p.S713S|SYNRG_ENST00000394378.2_Silent_p.S714S|SYNRG_ENST00000346661.4_Silent_p.S792S|SYNRG_ENST00000345615.4_Silent_p.S714S|SYNRG_ENST00000591288.1_Silent_p.S631S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	792					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCTCCCAGGGATTTGTCCG	0.448													30	52					0	0	0	0	A	35913449	G	A	35913449	2	1	328	1	0	0	0	0	0	0	0	1	15551	1219	43	4		4	SYNRG	17	35913449	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	948626	35913449	45281761	2065	60279											
GPR179	440435	broad.mit.edu	37	chr17	36482359	36482359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ataaggctgttactcccaatCccaaggatagacagtgggag	13	8	11	9	0	0	1	0	0	0	1	2	3	2	3	2	3	1	2	2	3	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:36482359C>T	ENST00000342292.4	-	11	7113	c.7093G>A	c.(7093-7095)Gat>Aat	p.D2365N	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2365						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TACTCCCAATCCCAAGGATAG	0.488													21	42					0	0	0	0	T	36482359	C	T	36482359	3	4	328	1	0	0	0	0	1	0	0	0	6723	855	30	2	14	2	GPR179	17	36482359	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	568910	36482359	44712851	2066	60280											
GPR179	440435	broad.mit.edu	37	chr17	36483193	36483193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcatctggggctggctgtgGggacagacccttgccatctt	6	10	14	11	0	2	1	0	0	2	1	2	2	2	2	2	5	2	3	2	5	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:36483193G>A	ENST00000342292.4	-	11	6279	c.6259C>T	c.(6259-6261)Cca>Tca	p.P2087S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2087						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCTGGCTGTGGGGACAGACCC	0.577													44	77					0	0	0	0	A	36483193	G	A	36483193	3	1	328	1	0	0	0	0	1	0	0	0	6723	1232	43	4	848	4	GPR179	17	36483193	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	834	36483193	44712017	2067	60281											
GPR179	440435	broad.mit.edu	37	chr17	36487059	36487059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccggctctctgttcgagagGccttcttggccagcttcctc	3	12	10	16	2	2	1	0	0	2	1	6	2	3	1	4	3	1	3	4	3	0	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:36487059G>A	ENST00000342292.4	-	11	2413	c.2393C>T	c.(2392-2394)gCc>gTc	p.A798V		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	798						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGTTCGAGAGGCCTTCTTGGC	0.647													4	7					0	0	0	0	A	36487059	G	A	36487059	3	1	328	1	0	0	0	0	1	0	0	0	6723	1203	42	4	4714	4	GPR179	17	36487059	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3866	36487059	44708151	2068	60282											
TOP2A	7153	broad.mit.edu	37	chr17	38557239	38557239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagcaccatgggaataatagGaatgtaccattcaggctcaa	15	8	9	9	0	2	0	2	0	0	0	2	2	2	2	2	3	2	3	2	3	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:38557239G>A	ENST00000423485.1	-	21	2685	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	843					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GGAATAATAGGAATGTACCAT	0.408													51	91					0	0	0	0	A	38557239	G	A	38557239	3	1	328	1	0	0	0	0	1	0	0	0	16460	1174	41	2	2128	2	TOP2A	17	38557239	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2070180	38557239	42637971	2069	60283											
TNS4	84951	broad.mit.edu	37	chr17	38640845	38640845	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaagcccctggctcctccttCctcagcagctcgattgctgg	6	10	9	16	1	1	0	1	0	0	0	5	1	4	0	5	2	4	4	5	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:38640845C>T	ENST00000254051.6	-	6	1550	c.1392G>A	c.(1390-1392)agG>agA	p.R464R		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	464	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCTCCTCCTTCCTCAGCAGCT	0.597													21	38					0	0	0	0	T	38640845	C	T	38640845	2	4	328	1	0	0	0	0	0	0	0	1	16439	854	30	2		2	TNS4	17	38640845	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	83606	38640845	42554365	2070	60284											
SMARCE1	6605	broad.mit.edu	37	chr17	38793756	38793756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcacctacctttctgctgtaCctcatgtagggcatcagcgg	7	11	10	13	1	3	0	2	0	1	0	3	0	3	0	3	2	4	5	3	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:38793756C>T	ENST00000348513.6	-	5	1005	c.225G>A	c.(223-225)agG>agA	p.R75R	SMARCE1_ENST00000377808.4_Silent_p.R40R|SMARCE1_ENST00000431889.2_Silent_p.R57R|SMARCE1_ENST00000400122.3_Silent_p.R5R|SMARCE1_ENST00000580419.1_Silent_p.R40R|KRT222_ENST00000476049.1_Intron|SMARCE1_ENST00000544009.1_Silent_p.R5R|SMARCE1_ENST00000578044.1_Silent_p.R5R	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	75					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				TTCTGCTGTACCTCATGTAGG	0.458													46	61					0	0	0	0	T	38793756	C	T	38793756	2	4	328	1	0	0	0	0	0	0	0	1	14868	506	18	4		4	SMARCE1	17	38793756	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	152911	38793756	42401454	2071	60285											
KRT28	162605	broad.mit.edu	37	chr17	38953442	38953442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcgtactccgctcgcatgTtgttcaacaaaaccgcgagg	9	10	9	13	5	1	0	1	0	0	0	4	1	2	0	2	1	3	5	2	1	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:38953442T>C	ENST00000306658.7	-	4	847	c.782A>G	c.(781-783)aAc>aGc	p.N261S		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	261	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CGCTCGCATGTTGTTCAACAA	0.622													44	62					0	0	0	0	C	38953442	T	C	38953442	3	2	328	1	0	0	0	0	1	0	0	0	8517	1725	60	5	632	5	KRT28	17	38953442	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	159686	38953442	42241768	2072	60286											
KRT28	162605	broad.mit.edu	37	chr17	38954593	38954593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtccaggactcgccgtaatCcgttgatgtcggcctctacg	6	10	11	14	6	1	1	0	1	1	0	5	2	3	2	4	2	1	2	4	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:38954593C>T	ENST00000306658.7	-	3	649	c.584G>A	c.(583-585)gGa>gAa	p.G195E		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	195	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCGCCGTAATCCGTTGATGTC	0.498													37	57					0	0	0	0	T	38954593	C	T	38954593	3	4	328	1	0	0	0	0	1	0	0	0	8517	855	30	2	834	2	KRT28	17	38954593	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1151	38954593	42240617	2073	60287											
KRT12	3859	broad.mit.edu	37	chr17	39019386	39019386	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgctcacccttgggcctcCccgtccagcaggcggcggta	4	8	12	17	3	2	0	1	0	1	0	4	0	4	0	5	4	2	3	5	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:39019386C>T	ENST00000251643.4	-	6	1328	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	435	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CTTGGGCCTCCCCGTCCAGCA	0.607													18	29					0	0	0	0	T	39019386	C	T	39019386	2	4	328	1	0	0	0	0	0	0	0	1	8501	610	22	4		4	KRT12	17	39019386	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	64793	39019386	42175824	2074	60288											
KRT12	3859	broad.mit.edu	37	chr17	39023387	39023387	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaggagagccgccgggAcagtccgggggtgcgcactg	6	4	19	12	5	0	1	0	0	0	1	1	4	1	2	3	4	3	1	3	4	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:39023387A>T	ENST00000251643.4	-	1	75	c.52T>A	c.(52-54)Tcc>Acc	p.S18T		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	18	Head.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				AGCCGCCGGGACAGTCCGGGG	0.597													15	38					0	0	0	0	T	39023387	A	T	39023387	3	4	328	1	0	0	0	0	1	0	0	0	8501	275	10	5	1464	5	KRT12	17	39023387	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	4001	39023387	42171823	2075	60289											
KRT38	8687	broad.mit.edu	37	chr17	39596463	39596463	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattgtcaatttgtacaatCagcctggcattctcggcctt	8	14	8	11	1	3	0	2	0	1	0	4	0	3	0	2	2	2	3	2	2	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:39596463C>T	ENST00000246646.3	-	2	524	c.525G>A	c.(523-525)ctG>ctA	p.L175L		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	175	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TTTGTACAATCAGCCTGGCAT	0.547													15	22					0	0	0	0	T	39596463	C	T	39596463	2	4	328	1	0	0	0	0	0	0	0	1	8527	813	29	2		2	KRT38	17	39596463	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	573076	39596463	41598747	2076	60290											
KLHL10	317719	broad.mit.edu	37	chr17	39994346	39994346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgagttcagtgcccataaGaacatcctctgtagctgcag	10	12	9	10	0	2	2	1	1	1	1	3	2	3	2	2	0	4	4	2	0	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:39994346G>A	ENST00000293303.4	+	1	315	c.162G>A	c.(160-162)aaG>aaA	p.K54K	KLHL10_ENST00000485613.1_Intron	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	54	BTB.					cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GTGCCCATAAGAACATCCTCT	0.468													25	41					0	0	0	0	A	39994346	G	A	39994346	2	1	328	1	0	0	0	0	0	0	0	1	8418	933	33	2		2	KLHL10	17	39994346	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	397883	39994346	41200864	2077	60291											
TTC25	83538	broad.mit.edu	37	chr17	40091559	40091559	+	RNA	SNP	G	G	A																															gacttggagagatccctgaaGgatgctgaggcttcgctcca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:40091559G>A	ENST00000591658.1	+	0	272							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GATCCCTGAAGGATGCTGAGG	0.527													17	23					0	0	0	0	A	40091559	G	A	40091559	1	1	328	0	1	0	0	0	0	0	0	0	16789	991	35	4		4	TTC25	17	40091559	RNA	SNP	G	TCGA-CV-7568-01A-11D-2229-08	97213	40091559	41103651	2078	60292	673	2									
TTC25	83538	broad.mit.edu	37	chr17	40091560	40091560	+	RNA	SNP	G	G	A																															acttggagagatccctgaagGatgctgaggcttcgctccag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:40091560G>A	ENST00000591658.1	+	0	273							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				ATCCCTGAAGGATGCTGAGGC	0.527													18	23					0	0	0	0	A	40091560	G	A	40091560	1	1	328	0	1	0	0	0	0	0	0	0	16789	1174	41	2		2	TTC25	17	40091560	RNA	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	40091560	41103650	2079	60293	673	2									
KCNH4	23415	broad.mit.edu	37	chr17	40315719	40315719	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacctgggggggccgtgaggGgaggcactgtggccctggcc	4	5	20	12	1	0	1	0	1	0	0	0	2	0	2	4	8	0	1	4	8	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:40315719G>A	ENST00000264661.3	-	13	2714	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	KCNH4_ENST00000607371.1_Silent_p.S794S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	794					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCCGTGAGGGGAGGCACTGT	0.657													8	17					0	0	0	0	A	40315719	G	A	40315719	2	1	328	1	0	0	0	0	0	0	0	1	8087	1219	43	4		4	KCNH4	17	40315719	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	224159	40315719	40879491	2080	60294											
STAT5A	6776	broad.mit.edu	37	chr17	40452852	40452852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgctggccgaggtcaacgCcaccatcacggacattatct	10	8	10	13	3	3	0	2	0	1	0	3	3	3	1	3	3	2	1	3	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:40452852C>T	ENST00000345506.4	+	9	1595	c.953C>T	c.(952-954)gCc>gTc	p.A318V	STAT5A_ENST00000588868.1_Missense_Mutation_p.A318V|STAT5A_ENST00000546010.2_Missense_Mutation_p.A288V|STAT5A_ENST00000452307.2_Missense_Mutation_p.A318V|STAT5A_ENST00000590949.1_Missense_Mutation_p.A318V	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	318					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GAGGTCAACGCCACCATCACG	0.647													16	20					0	0	0	0	T	40452852	C	T	40452852	3	4	328	1	0	0	0	0	1	0	0	0	15358	739	26	4	979	4	STAT5A	17	40452852	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	137133	40452852	40742358	2081	60295											
EZH1	2145	broad.mit.edu	37	chr17	40879703	40879703	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcattgactgaacaggttGgacacgaagcttcttccatt	10	13	8	10	1	2	2	1	2	1	0	3	4	3	3	1	2	2	2	1	2	2	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:40879703G>A	ENST00000428826.2	-	4	317	c.196C>T	c.(196-198)Caa>Taa	p.Q66*	EZH1_ENST00000590078.1_5'UTR|EZH1_ENST00000415827.2_Nonsense_Mutation_p.Q66*|EZH1_ENST00000435174.1_Missense_Mutation_p.P7L|EZH1_ENST00000592743.1_Nonsense_Mutation_p.Q66*|EZH1_ENST00000585893.1_Nonsense_Mutation_p.Q66*			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	66					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGAACAGGTTGGACACGAAGC	0.423													33	54					0	0	0	0	A	40879703	G	A	40879703	4	1	328	1	0	0	0	0	0	1	0	0	5371	1357	47	4	2119	4	EZH1	17	40879703	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	426851	40879703	40315507	2082	60296											
AOC3	8639	broad.mit.edu	37	chr17	41004096	41004096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctgcaccacgtgggcttgGagctgctagtgaaccacaag	9	8	12	12	1	0	1	0	1	0	0	1	2	1	2	3	2	4	4	3	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:41004096G>A	ENST00000308423.2	+	1	896	c.736G>A	c.(736-738)Gag>Aag	p.E246K		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	246					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CGTGGGCTTGGAGCTGCTAGT	0.622													26	39					0	0	0	0	A	41004096	G	A	41004096	3	1	328	1	0	0	0	0	1	0	0	0	729	1175	41	2	738	2	AOC3	17	41004096	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	124393	41004096	40191114	2083	60297											
DHX8	1659	broad.mit.edu	37	chr17	41584468	41584468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcggaggcaggctacacttCcaggggcaagattgggtgta	9	7	17	8	1	0	1	0	0	0	1	1	2	1	2	1	7	1	4	1	7	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:41584468C>T	ENST00000262415.3	+	13	1898	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	DHX8_ENST00000540306.1_Missense_Mutation_p.S609F	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	609	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGCTACACTTCCAGGGGCAAG	0.532													51	64					0	0	0	0	T	41584468	C	T	41584468	3	4	328	1	0	0	0	0	1	0	0	0	4552	855	30	2	1876	2	DHX8	17	41584468	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	580372	41584468	39610742	2084	60298											
TMUB2	79089	broad.mit.edu	37	chr17	42268212	42268212	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcttcagcttcctagtaTttgggatgtatggacgataa	9	16	9	7	1	3	0	1	0	2	0	4	3	4	2	1	2	1	3	1	2	4	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42268212T>A	ENST00000319511.6	+	3	1536	c.886T>A	c.(886-888)Ttt>Att	p.F296I	TMUB2_ENST00000357984.3_Missense_Mutation_p.F296I|TMUB2_ENST00000538716.2_Missense_Mutation_p.F316I|TMUB2_ENST00000446571.3_Missense_Mutation_p.F259I|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000587989.1_Missense_Mutation_p.F316I|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.F296I	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	316						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTCCTAGTATTTGGGATGTA	0.517													53	82					0	0	0	0	A	42268212	T	A	42268212	3	1	328	1	0	0	0	0	1	0	0	0	16359	1493	52	5	956	5	TMUB2	17	42268212	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	683744	42268212	38926998	2085	60299											
SLC4A1	6521	broad.mit.edu	37	chr17	42336948	42336948	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcccttctgtgcccccatctCcctgtgggaaggagggtggt	4	10	14	13	0	2	0	0	0	2	0	3	2	2	2	4	4	1	0	4	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42336948C>G	ENST00000262418.6	-	8	766	c.609_splice	c.e8-1	p.G204_splice	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	204					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCCCCATCTCCCTGTGGGAA	0.592													26	27					0	0	0	0	G	42336948	C	G	42336948	5	3	328	1	0	0	0	0	0	0	1	0	14738	869	30	2	2176	2	SLC4A1	17	42336948	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	68736	42336948	38858262	2086	60300											
ITGA2B	3674	broad.mit.edu	37	chr17	42457388	42457388	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcgaaggaaggccatggtGgtgtggcagatggggctgtg	8	8	19	6	1	0	1	0	0	0	1	1	3	0	2	1	7	0	2	1	7	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42457388G>A	ENST00000262407.5	-	17	1765	c.1734C>T	c.(1732-1734)acC>acT	p.T578T	ITGA2B_ENST00000353281.4_Silent_p.T578T	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	578					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AGGCCATGGTGGTGTGGCAGA	0.642													18	22					0	0	0	0	A	42457388	G	A	42457388	2	1	328	1	0	0	0	0	0	0	0	1	7929	1335	47	4		4	ITGA2B	17	42457388	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	120440	42457388	38737822	2087	60301											
ITGA2B	3674	broad.mit.edu	37	chr17	42458336	42458336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggggctgtccaggacctggGagggacgtgacctcagcccc	7	5	16	13	1	1	1	1	1	0	0	2	4	2	4	5	5	1	1	5	5	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42458336G>A	ENST00000262407.5	-	13	1335	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	ITGA2B_ENST00000353281.4_Missense_Mutation_p.S435F|ITGA2B_ENST00000377068.3_Missense_Mutation_p.S120F	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	435					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAGGACCTGGGAGGGACGTGA	0.642													21	56					0	0	0	0	A	42458336	G	A	42458336	3	1	328	1	0	0	0	0	1	0	0	0	7929	1174	41	2	1887	2	ITGA2B	17	42458336	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	948	42458336	38736874	2088	60302											
GPATCH8	23131	broad.mit.edu	37	chr17	42477276	42477276	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcgttcagaatctgctggGgctgatgacttattcttctt	6	16	9	10	1	4	3	1	2	3	1	5	3	4	3	1	2	1	3	1	2	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42477276G>A	ENST00000434000.1	-	9	2217	c.1935C>T	c.(1933-1935)gcC>gcT	p.A645A	GPATCH8_ENST00000591680.1_Silent_p.A723A			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	723						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AATCTGCTGGGGCTGATGACT	0.517													45	68					0	0	0	0	A	42477276	G	A	42477276	2	1	328	1	0	0	0	0	0	0	0	1	6643	1219	43	4		4	GPATCH8	17	42477276	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	18940	42477276	38717934	2089	60303											
CCDC43	124808	broad.mit.edu	37	chr17	42756379	42756379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagttttcgggcattaaGgacatcttccacattggtgt	8	14	9	10	1	1	0	0	0	1	0	4	1	3	1	2	3	0	2	2	3	1	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42756379G>A	ENST00000315286.8	-	5	528	c.520C>T	c.(520-522)Ctt>Ttt	p.L174F	CCDC43_ENST00000457422.2_Missense_Mutation_p.P154L|CCDC43_ENST00000588210.1_Missense_Mutation_p.L177F|C17orf104_ENST00000588805.1_3'UTR	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	174				L -> F (in Ref. 1; BAB71162).						lung(2)	2		Prostate(33;0.0322)				CGGGCATTAAGGACATCTTCC	0.488													12	24					0	0	0	0	A	42756379	G	A	42756379	3	1	328	1	0	0	0	0	1	0	0	0	2842	1000	35	4	158	4	CCDC43	17	42756379	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	279103	42756379	38438831	2090	60304											
DBF4B	80174	broad.mit.edu	37	chr17	42824479	42824479	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatggagagccaagcccaCgatcagctgcccacaccatg	12	4	11	14	1	1	1	1	0	0	1	1	4	1	2	4	2	4	1	4	2	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42824479C>T	ENST00000315005.3	+	11	997	c.859C>T	c.(859-861)Cga>Tga	p.R287*	DBF4B_ENST00000393547.2_Nonsense_Mutation_p.R287*	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	287					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GCCAAGCCCACGATCAGCTGC	0.592													34	81					0	0	0	0	T	42824479	C	T	42824479	4	4	328	1	0	0	0	0	0	1	0	0	4282	528	19	1	946	1	DBF4B	17	42824479	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	68100	42824479	38370731	2091	60305											
PLEKHM1	9842	broad.mit.edu	37	chr17	43522844	43522844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggttgctcacctcttgctGagctccttcagggcgccact	5	11	11	14	1	3	1	2	1	1	0	4	2	4	1	3	2	3	4	3	2	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:43522844G>A	ENST00000430334.3	-	9	2962	c.2829C>T	c.(2827-2829)ctC>ctT	p.L943L	PLEKHM1_ENST00000421073.2_Silent_p.L854L|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	943					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					ACCTCTTGCTGAGCTCCTTCA	0.557													15	23					0	0	0	0	A	43522844	G	A	43522844	2	1	328	1	0	0	0	0	0	0	0	1	12152	1277	45	2		2	PLEKHM1	17	43522844	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	698365	43522844	37672366	2092	60306											
MAPT	4137	broad.mit.edu	37	chr17	44051777	44051777	+	Missense_Mutation	SNP	G	G	A																															cagcacccttagtggatgagGgagctcccggcaagcaggct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:44051777G>A	ENST00000344290.5	+	4	569	c.247G>A	c.(247-249)Gga>Aga	p.G83R	MAPT_ENST00000574436.1_Missense_Mutation_p.G83R|MAPT_ENST00000431008.3_Missense_Mutation_p.G83R|MAPT_ENST00000571987.1_Missense_Mutation_p.G83R|MAPT_ENST00000351559.5_Missense_Mutation_p.G83R|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.G83R|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.G83R|MAPT_ENST00000415613.2_Missense_Mutation_p.G83R|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000340799.5_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	83					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AGTGGATGAGGGAGCTCCCGG	0.627													10	9					0	0	0	0	A	44051777	G	A	44051777	3	1	328	1	0	0	0	0	1	0	0	0	9366	1233	43	4	257	4	MAPT	17	44051777	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	528933	44051777	37143433	2093	60307	674	2									
MAPT	4137	broad.mit.edu	37	chr17	44051778	44051778	+	Missense_Mutation	SNP	G	G	A																															agcacccttagtggatgaggGagctcccggcaagcaggctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:44051778G>A	ENST00000344290.5	+	4	570	c.248G>A	c.(247-249)gGa>gAa	p.G83E	MAPT_ENST00000574436.1_Missense_Mutation_p.G83E|MAPT_ENST00000431008.3_Missense_Mutation_p.G83E|MAPT_ENST00000571987.1_Missense_Mutation_p.G83E|MAPT_ENST00000351559.5_Missense_Mutation_p.G83E|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.G83E|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.G83E|MAPT_ENST00000415613.2_Missense_Mutation_p.G83E|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000340799.5_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	83					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GTGGATGAGGGAGCTCCCGGC	0.622													10	9					0	0	0	0	A	44051778	G	A	44051778	3	1	328	1	0	0	0	0	1	0	0	0	9366	1174	41	2	258	2	MAPT	17	44051778	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	44051778	37143432	2094	60308	674	2									
CBX1	10951	broad.mit.edu	37	chr17	46148855	46148855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggaatgccacgtcagcCtttcctcatagaaggatatg	11	10	11	9	1	2	1	2	0	0	1	3	3	3	3	3	3	2	1	3	3	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:46148855C>T	ENST00000393408.3	-	5	980	c.500G>A	c.(499-501)aGg>aAg	p.R167K	CBX1_ENST00000225603.4_Missense_Mutation_p.R167K	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	167	Chromo 2; shadow subtype.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CCACGTCAGCCTTTCCTCATA	0.498													28	44					0	0	0	0	T	46148855	C	T	46148855	3	4	328	1	0	0	0	0	1	0	0	0	2742	681	24	4	61	4	CBX1	17	46148855	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2097077	46148855	35046355	2095	60309											
HOXB3	3213	broad.mit.edu	37	chr17	46628270	46628270	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtccttcttgtacttcAtgcgccggttctggaaccag	5	14	10	12	2	4	0	1	0	3	0	5	1	5	1	3	3	3	2	3	3	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:46628270A>C	ENST00000470495.1	-	2	2169	c.722T>G	c.(721-723)aTg>aGg	p.M241R	HOXB3_ENST00000472863.1_Missense_Mutation_p.M168R|HOXB3_ENST00000460160.1_Missense_Mutation_p.M109R|HOXB3_ENST00000476342.1_Missense_Mutation_p.M241R|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.M241R|HOXB3_ENST00000490677.1_Missense_Mutation_p.M107R|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.M109R|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.M168R|HOXB3_ENST00000311626.4_Missense_Mutation_p.M241R|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	241					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTTGTACTTCATGCGCCGGTT	0.637											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	82					0	0	0	0	C	46628270	A	C	46628270	3	2	328	1	0	0	0	0	1	0	0	0	7352	217	8	5	577	5	HOXB3	17	46628270	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	479415	46628270	34566940	2096	60310											
HOXB4	3214	broad.mit.edu	37	chr17	46655603	46655603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtcgctgggtaggtaatCgctctgtgaatattcctcgc	6	13	13	9	3	1	1	0	1	1	0	5	1	2	1	1	3	0	4	1	3	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:46655603C>T	ENST00000332503.5	-	1	1870	c.79G>A	c.(79-81)Gat>Aat	p.D27N	HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000489475.1_Intron|HOXB-AS3_ENST00000465846.2_RNA	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	27	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						GGTAGGTAATCGCTCTGTGAA	0.582													20	20					0	0	0	0	T	46655603	C	T	46655603	3	4	328	1	0	0	0	0	1	0	0	0	7353	884	31	1	684	1	HOXB4	17	46655603	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	27333	46655603	34539607	2097	60311											
HOXB13	10481	broad.mit.edu	37	chr17	46804277	46804277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgagatcttgcgcctcttgtCcttggtgatgaacttgttag	6	15	11	9	2	2	3	0	2	2	1	3	4	3	3	2	1	2	1	2	1	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:46804277C>T	ENST00000290295.7	-	2	1314	c.730G>A	c.(730-732)Gac>Aac	p.D244N		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	244					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CGCCTCTTGTCCTTGGTGATG	0.587													41	78					0	0	0	0	T	46804277	C	T	46804277	3	4	328	1	0	0	0	0	1	0	0	0	7350	855	30	2	128	2	HOXB13	17	46804277	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	148674	46804277	34390933	2098	60312											
ATP5G1	516	broad.mit.edu	37	chr17	46972537	46972537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcctacagcaacttccCactccaggtggccagacggg	8	7	10	16	1	0	1	0	0	0	1	3	1	3	1	5	3	3	1	5	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:46972537C>T	ENST00000393366.2	+	4	240	c.137C>T	c.(136-138)cCa>cTa	p.P46L	ATP5G1_ENST00000514808.1_Missense_Mutation_p.P46L|ATP5G1_ENST00000503641.1_Intron|ATP5G1_ENST00000506855.1_Missense_Mutation_p.P20L|RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000513781.1_3'UTR|ATP5G1_ENST00000355938.5_Missense_Mutation_p.P46L	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)	46					ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			liver(1)|lung(1)	2						AGCAACTTCCCACTCCAGGTG	0.547													31	35					0	0	0	0	T	46972537	C	T	46972537	3	4	328	1	0	0	0	0	1	0	0	0	1157	594	21	4	147	4	ATP5G1	17	46972537	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	168260	46972537	34222673	2099	60313											
ABI3	51225	broad.mit.edu	37	chr17	47299452	47299452	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttctgcttttcccccaaGacgaagagctgcccctgcca	7	10	7	17	1	1	2	0	0	1	2	2	3	2	2	6	0	4	2	6	0	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:47299452G>A	ENST00000225941.1	+	7	1300		c.e7-1		ABI3_ENST00000419580.2_Splice_Site	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3						cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TTTCCCCCAAGACGAAGAGCT	0.587										HNSCC(55;0.14)			45	98					0	0	0	0	A	47299452	G	A	47299452	5	1	328	1	0	0	0	0	0	0	1	0	90	956	33	2	828	2	ABI3	17	47299452	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	326915	47299452	33895758	2100	60314											
SLC35B1	10237	broad.mit.edu	37	chr17	47780630	47780630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcagcaaagctcaagaactCccagagctccccagtgaaca	14	6	7	14	0	2	3	2	1	0	2	4	3	4	3	3	0	5	3	3	0	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:47780630C>T	ENST00000240333.6	-	7	803	c.682G>A	c.(682-684)Gag>Aag	p.E228K	SLC35B1_ENST00000415270.2_Missense_Mutation_p.E265K			P78383	S35B1_HUMAN	solute carrier family 35, member B1	228						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						CTCAAGAACTCCCAGAGCTCC	0.502													26	40					0	0	0	0	T	47780630	C	T	47780630	3	4	328	1	0	0	0	0	1	0	0	0	14663	864	30	2	298	2	SLC35B1	17	47780630	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	481178	47780630	33414580	2101	60315											
UTP18	51096	broad.mit.edu	37	chr17	49371299	49371299	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtacagtattttcaaacttCccagtcattaaaaataagaa	17	13	4	7	0	2	1	2	0	0	1	3	1	3	1	1	0	2	2	1	0	8	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:49371299C>T	ENST00000225298.7	+	12	1596	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	513					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			TTTCAAACTTCCCAGTCATTA	0.363													22	32					0	0	0	0	T	49371299	C	T	49371299	2	4	328	1	0	0	0	0	0	0	0	1	17194	854	30	2		2	UTP18	17	49371299	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1590669	49371299	31823911	2102	60316											
KIF2B	84643	broad.mit.edu	37	chr17	51900837	51900837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgaagcagaaaaagtctcCctgcctctgggaaatccaga	14	7	10	10	0	2	3	0	1	2	2	4	5	3	4	3	1	2	1	3	1	4	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:51900837C>T	ENST00000268919.4	+	1	599	c.443C>T	c.(442-444)cCc>cTc	p.P148L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	148			P -> S (in dbSNP:rs59657238).		blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAAAGTCTCCCTGCCTCTGG	0.567													48	60					0	0	0	0	T	51900837	C	T	51900837	3	4	328	1	0	0	0	0	1	0	0	0	8349	623	22	4	445	4	KIF2B	17	51900837	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2529538	51900837	29294373	2103	60317											
COIL	8161	broad.mit.edu	37	chr17	55027332	55027332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcttctatttacaacacagGaaacaggatgccctcgtcct	11	11	7	12	1	1	0	0	0	1	0	3	2	2	2	2	2	5	1	2	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:55027332G>A	ENST00000240316.4	-	2	1305	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	424	2 X 4 AA repeats of S-L-P-A.					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TACAACACAGGAAACAGGATG	0.443													47	76					0	0	0	0	A	55027332	G	A	55027332	3	1	328	1	0	0	0	0	1	0	0	0	3695	1174	41	2	483	2	COIL	17	55027332	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3126495	55027332	26167878	2104	60318											
BZRAP1	9256	broad.mit.edu	37	chr17	56382996	56382996	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcagcagaggggaccagctTaggggggcctgcagggggag	8	4	21	8	0	1	1	1	0	0	1	1	3	1	3	2	7	3	3	2	7	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56382996T>A	ENST00000355701.3	-	28	6136	c.5266A>T	c.(5266-5268)Aag>Tag	p.K1756*	BZRAP1_ENST00000343736.4_Nonsense_Mutation_p.K1756*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.K1696*	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1756						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGACCAGCTTAGGGGGGCCT	0.612													4	8					0	0	0	0	A	56382996	T	A	56382996	4	1	328	1	0	0	0	0	0	1	0	0	1586	1763	61	5	323	5	BZRAP1	17	56382996	Nonsense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1355664	56382996	24812214	2105	60319											
BZRAP1	9256	broad.mit.edu	37	chr17	56386506	56386506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaagggacactggccaggtCttcggggctgaccactgtca	9	7	13	12	1	2	1	1	1	1	0	3	2	2	2	2	5	0	1	2	5	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56386506C>T	ENST00000355701.3	-	22	4997	c.4127G>A	c.(4126-4128)aGa>aAa	p.R1376K	BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1376K|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1316K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1376						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGCCAGGTCTTCGGGGCTG	0.632													67	68					0	0	0	0	T	56386506	C	T	56386506	3	4	328	1	0	0	0	0	1	0	0	0	1586	913	32	2	1486	2	BZRAP1	17	56386506	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3510	56386506	24808704	2106	60320											
BZRAP1	9256	broad.mit.edu	37	chr17	56389304	56389304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcccgctgctccagcctctCccagcctggttcccagggcc	4	7	10	20	1	1	0	0	0	1	0	4	0	3	0	7	2	4	3	7	2	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56389304C>T	ENST00000355701.3	-	17	3748	c.2878G>A	c.(2878-2880)Gag>Aag	p.E960K	BZRAP1_ENST00000343736.4_Missense_Mutation_p.E960K|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E900K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	960						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAGCCTCTCCCAGCCTGGT	0.652													11	15					0	0	0	0	T	56389304	C	T	56389304	3	4	328	1	0	0	0	0	1	0	0	0	1586	864	30	2	2755	2	BZRAP1	17	56389304	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2798	56389304	24805906	2107	60321											
RNF43	54894	broad.mit.edu	37	chr17	56448300	56448300	+	Missense_Mutation	SNP	G	G	A																															ccagtgacaggcaggggcggGgggcccgtcgaggactctcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56448300G>A	ENST00000584437.1	-	2	2302	c.347C>T	c.(346-348)cCc>cTc	p.P116L	RNF43_ENST00000577716.1_Missense_Mutation_p.P116L|RNF43_ENST00000583753.1_Intron|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.P116L|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000577625.1_5'UTR			Q68DV7	RNF43_HUMAN	ring finger protein 43	116						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGGGGCGGGGGGCCCGTCG	0.607													24	45					0	0	0	0	A	56448300	G	A	56448300	3	1	328	1	0	0	0	0	1	0	0	0	13580	1232	43	4	2036	4	RNF43	17	56448300	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	58996	56448300	24746910	2108	60322	675	2									
RNF43	54894	broad.mit.edu	37	chr17	56448301	56448301	+	Missense_Mutation	SNP	G	G	A																															cagtgacaggcaggggcgggGggcccgtcgaggactctcca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56448301G>A	ENST00000584437.1	-	2	2301	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	RNF43_ENST00000577716.1_Missense_Mutation_p.P116S|RNF43_ENST00000583753.1_Intron|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.P116S|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000577625.1_5'UTR			Q68DV7	RNF43_HUMAN	ring finger protein 43	116						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGGGCGGGGGGCCCGTCGA	0.602													24	42					0	0	0	0	A	56448301	G	A	56448301	3	1	328	1	0	0	0	0	1	0	0	0	13580	1232	43	4	2037	4	RNF43	17	56448301	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	56448301	24746909	2109	60323	675	2									
C17orf47	284083	broad.mit.edu	37	chr17	56620819	56620819	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtttctgattcttctacaggGacccttctctgggctgtctg	4	16	10	11	0	5	1	0	1	5	0	6	2	5	2	1	2	1	2	1	2	1	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56620819G>A	ENST00000321691.3	-	1	910	c.729C>T	c.(727-729)gtC>gtT	p.V243V	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	243										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTCTACAGGGACCCTTCTCT	0.478													43	79					0	0	0	0	A	56620819	G	A	56620819	2	1	328	1	0	0	0	0	0	0	0	1	1873	1161	41	2		2	C17orf47	17	56620819	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	172518	56620819	24574391	2110	60324											
CLTC	1213	broad.mit.edu	37	chr17	57760370	57760370	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaagaacttatcaactacTatcaggtattaacgagactt	16	12	6	7	1	2	3	2	0	0	3	2	4	2	3	0	1	4	1	0	1	9	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:57760370T>G	ENST00000269122.3	+	24	4142	c.3868T>G	c.(3868-3870)Tat>Gat	p.Y1290D	CLTC_ENST00000579456.1_Missense_Mutation_p.Y227D|CLTC_ENST00000393043.1_Missense_Mutation_p.Y1290D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1290	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TATCAACTACTATCAGGTATT	0.368			T	"ALK, TFE3"	"ALCL, renal "								33	45					0	0	0	0	G	57760370	T	G	57760370	3	3	328	1	0	0	0	0	1	0	0	0	3596	1522	53	5	3962	5	CLTC	17	57760370	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1139551	57760370	23434840	2111	60325											
BCAS3	54828	broad.mit.edu	37	chr17	58824580	58824580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtggtgaagcacaagagCtcttctctgttcgacatggc	9	11	11	10	1	3	2	1	1	2	1	5	3	3	2	0	2	2	3	0	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:58824580C>T	ENST00000589222.1	+	6	411	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	BCAS3_ENST00000588462.1_Missense_Mutation_p.L115F|BCAS3_ENST00000408905.3_Missense_Mutation_p.L115F|BCAS3_ENST00000407086.3_Missense_Mutation_p.L115F|BCAS3_ENST00000390652.5_Missense_Mutation_p.L115F			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	115						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGCACAAGAGCTCTTCTCTGT	0.393													65	124					0	0	0	0	T	58824580	C	T	58824580	3	4	328	1	0	0	0	0	1	0	0	0	1356	797	28	4	361	4	BCAS3	17	58824580	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1064210	58824580	22370630	2112	60326											
TBX2	6909	broad.mit.edu	37	chr17	59479268	59479268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctaagcctgtggccttcCacaagctgaagctgaccaac	10	8	10	13	0	0	2	0	2	0	0	1	2	1	2	4	2	4	3	4	2	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:59479268C>T	ENST00000240328.3	+	2	900	c.619C>T	c.(619-621)Cac>Tac	p.H207Y	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	207					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						TGTGGCCTTCCACAAGCTGAA	0.617													20	51					0	0	0	0	T	59479268	C	T	59479268	3	4	328	1	0	0	0	0	1	0	0	0	15749	594	21	4	625	4	TBX2	17	59479268	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	654688	59479268	21715942	2113	60327											
MRC2	9902	broad.mit.edu	37	chr17	60755897	60755897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcggctgcaggacaagaaGagctgggtccaggcccaggg	10	3	18	10	1	0	2	0	0	0	2	1	4	1	3	2	5	3	3	2	5	2	0	rs142797663		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:60755897G>A	ENST00000303375.5	+	13	2487	c.2085G>A	c.(2083-2085)aaG>aaA	p.K695K		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	695	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGGACAAGAAGAGCTGGGTCC	0.657													12	21					0	0	0	0	A	60755897	G	A	60755897	2	1	328	1	0	0	0	0	0	0	0	1	9828	933	33	2		2	MRC2	17	60755897	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1276629	60755897	20439313	2114	60328											
CSH2	1443	broad.mit.edu	37	chr17	61949552	61949552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatgtctcgaccttgtcCatgtccttcctgaagcagta	9	12	9	11	1	1	1	0	1	1	0	5	3	4	2	4	1	1	2	4	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:61949552C>T	ENST00000392886.2	-	5	739	c.588G>A	c.(586-588)atG>atA	p.M196I	CSH2_ENST00000560142.1_Missense_Mutation_p.M139I|CSH2_ENST00000345366.7_Missense_Mutation_p.M101I|CSH2_ENST00000336844.5_3'UTR	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	196					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CGACCTTGTCCATGTCCTTCC	0.562													46	65					0	0	0	0	T	61949552	C	T	61949552	3	4	328	1	0	0	0	0	1	0	0	0	3973	594	21	4	69	4	CSH2	17	61949552	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1193655	61949552	19245658	2115	60329											
CSHL1	1444	broad.mit.edu	37	chr17	61987974	61987974	+	Silent	SNP	G	G	A																															gctcccactgttactcttctGggaacctggctcagcctatg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:61987974G>A	ENST00000392824.4	-	2	382	c.321C>T	c.(319-321)ccC>ccT	p.P107P	CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000259003.10_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TTACTCTTCTGGGAACCTGGC	0.522													30	44					0	0	0	0	A	61987974	G	A	61987974	2	1	328	1	0	0	0	0	0	0	0	1	3974	1363	47	4		4	CSHL1	17	61987974	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	38422	61987974	19207236	2116	60330	676	2									
CSHL1	1444	broad.mit.edu	37	chr17	61987975	61987975	+	Missense_Mutation	SNP	G	G	A																															ctcccactgttactcttctgGgaacctggctcagcctatgc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:61987975G>A	ENST00000392824.4	-	2	381	c.320C>T	c.(319-321)cCc>cTc	p.P107L	CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000259003.10_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TACTCTTCTGGGAACCTGGCT	0.522													30	44					0	0	0	0	A	61987975	G	A	61987975	3	1	328	1	0	0	0	0	1	0	0	0	3974	1247	43	4		4	CSHL1	17	61987975	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	61987975	19207235	2117	60331	676	2									
ICAM2	3384	broad.mit.edu	37	chr17	62084044	62084044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagggtcctgtaaccgaaaGaggacatctctggcagtctc	10	9	11	11	1	3	1	1	0	2	1	6	3	4	2	2	3	1	2	2	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:62084044G>A	ENST00000412356.1	-	3	362	c.8C>T	c.(7-9)tCt>tTt	p.S3F	ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579687.1_Missense_Mutation_p.S3F|ICAM2_ENST00000578892.1_Missense_Mutation_p.S3F|ICAM2_ENST00000579788.1_Missense_Mutation_p.S3F|ICAM2_ENST00000449662.2_Missense_Mutation_p.S3F|ICAM2_ENST00000418105.1_Missense_Mutation_p.S3F|ICAM2_ENST00000578379.1_Intron	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	3					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GTAACCGAAAGAGGACATCTC	0.602													17	27					0	0	0	0	A	62084044	G	A	62084044	3	1	328	1	0	0	0	0	1	0	0	0	7533	942	33	2	835	2	ICAM2	17	62084044	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	96069	62084044	19111166	2118	60332											
TEX2	55852	broad.mit.edu	37	chr17	62232279	62232279	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggaggagccagcgctGgaggattcctcatcgctgtc	6	9	13	13	3	1	0	1	0	0	0	6	4	3	4	3	4	2	2	3	4	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:62232279G>A	ENST00000258991.3	-	9	2958	c.2874C>T	c.(2872-2874)tcC>tcT	p.S958S	TEX2_ENST00000583097.1_Silent_p.S951S|TEX2_ENST00000581812.1_5'UTR|TEX2_ENST00000584379.1_Silent_p.S951S			Q8IWB9	TEX2_HUMAN	testis expressed 2	951					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGCCAGCGCTGGAGGATTCCT	0.627													24	36					0	0	0	0	A	62232279	G	A	62232279	2	1	328	1	0	0	0	0	0	0	0	1	15875	1335	47	4		4	TEX2	17	62232279	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	148235	62232279	18962931	2119	60333											
TEX2	55852	broad.mit.edu	37	chr17	62248493	62248493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaaggcttgaaggcctggaGgatttttggcacagccacgc	9	9	14	9	1	0	1	0	1	0	0	0	3	0	3	2	5	1	3	2	5	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:62248493G>A	ENST00000258991.3	-	7	2743	c.2659C>T	c.(2659-2661)Ctc>Ttc	p.L887F	TEX2_ENST00000583097.1_Missense_Mutation_p.L880F|TEX2_ENST00000584379.1_Missense_Mutation_p.L880F			Q8IWB9	TEX2_HUMAN	testis expressed 2	880					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AAGGCCTGGAGGATTTTTGGC	0.448													17	17					0	0	0	0	A	62248493	G	A	62248493	3	1	328	1	0	0	0	0	1	0	0	0	15875	1000	35	4	769	4	TEX2	17	62248493	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	16214	62248493	18946717	2120	60334											
AXIN2	8313	broad.mit.edu	37	chr17	63533090	63533090	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgcagggccccagctcCgccgggggcccctccttccc	4	5	12	20	2	0	0	0	0	0	0	3	0	3	0	8	3	3	3	8	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:63533090C>A	ENST00000307078.5	-	7	2117	c.1804G>T	c.(1804-1806)Gga>Tga	p.G602*	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	602				Missing (in Ref. 2; AAF22799).	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCCAGCTCCGCCGGGGGCC	0.692									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				24	37					3.5997e-14	3.65439e-14	1	0	A	63533090	C	A	63533090	4	1	328	1	0	0	0	0	0	1	0	0	1241	661	23	3	747	3	AXIN2	17	63533090	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1284597	63533090	17662120	2121	60335											
PRKCA	5578	broad.mit.edu	37	chr17	64785068	64785068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggaaaaactggagaacaggGagatccagccaccattcaag	16	4	12	9	0	1	2	1	0	0	2	2	5	2	3	3	3	3	0	3	3	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:64785068G>A	ENST00000413366.3	+	16	1851	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	609	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GGAGAACAGGGAGATCCAGCC	0.572													33	37					0	0	0	0	A	64785068	G	A	64785068	3	1	328	1	0	0	0	0	1	0	0	0	12587	1175	41	2	1887	2	PRKCA	17	64785068	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1251978	64785068	16410142	2122	60336											
HELZ	9931	broad.mit.edu	37	chr17	65119214	65119214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatttgggtgaggtccaaGagggggtggaggagtatatg	11	9	18	3	0	0	2	0	1	0	1	1	4	1	4	1	6	0	1	1	6	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:65119214G>A	ENST00000358691.5	-	26	3668	c.3502C>T	c.(3502-3504)Ctt>Ttt	p.L1168F	HELZ_ENST00000580168.1_Missense_Mutation_p.L1169F	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGAGGTCCAAGAGGGGGTGGA	0.433													27	37					0	0	0	0	A	65119214	G	A	65119214	3	1	328	1	0	0	0	0	1	0	0	0	7099	942	33	2	2358	2	HELZ	17	65119214	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	334146	65119214	16075996	2123	60337											
PSMD12	5718	broad.mit.edu	37	chr17	65346399	65346399	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatcgaagtttgataggaagGtctgtgatttcctcaacata	13	13	9	6	1	2	2	1	2	1	0	4	4	3	3	1	2	1	1	1	2	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:65346399G>A	ENST00000356126.3	-	4	458	c.351C>T	c.(349-351)gaC>gaT	p.D117D	PSMD12_ENST00000581618.1_5'UTR|PSMD12_ENST00000357146.4_Silent_p.D97D	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TGATAGGAAGGTCTGTGATTT	0.333													13	24					0	0	0	0	A	65346399	G	A	65346399	2	1	328	1	0	0	0	0	0	0	0	1	12774	1252	44	4		4	PSMD12	17	65346399	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	227185	65346399	15848811	2124	60338											
NOL11	25926	broad.mit.edu	37	chr17	65733747	65733747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggaaaggtgtaaagcagaaCcatcattttatccccggaac	14	9	9	9	1	1	1	1	0	0	1	2	3	2	3	3	3	3	2	3	3	6	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:65733747C>T	ENST00000253247.4	+	12	1457	c.1342C>T	c.(1342-1344)Cca>Tca	p.P448S	NOL11_ENST00000535137.1_Missense_Mutation_p.P266S	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	448						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAAAGCAGAACCATCATTTTA	0.438													35	110					0	0	0	0	T	65733747	C	T	65733747	3	4	328	1	0	0	0	0	1	0	0	0	10591	507	18	4	1388	4	NOL11	17	65733747	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	387348	65733747	15461463	2125	60339											
AMZ2	51321	broad.mit.edu	37	chr17	66251959	66251959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccctctaaacctttgccCtatctgtttgcacaagttgc	7	13	7	14	1	2	0	0	0	2	0	2	0	2	0	3	0	4	3	3	0	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:66251959C>T	ENST00000359904.3	+	6	2001	c.869C>T	c.(868-870)cCt>cTt	p.P290L	AMZ2_ENST00000392720.2_Missense_Mutation_p.P290L|AMZ2_ENST00000359783.4_Missense_Mutation_p.P232L|AMZ2_ENST00000577866.1_Missense_Mutation_p.P290L|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000577985.1_Missense_Mutation_p.P290L|AMZ2_ENST00000580753.1_Missense_Mutation_p.P290L|AMZ2_ENST00000585050.1_Intron	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	290							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACCTTTGCCCTATCTGTTTG	0.507													23	37					0	0	0	0	T	66251959	C	T	66251959	3	4	328	1	0	0	0	0	1	0	0	0	597	681	24	4	887	4	AMZ2	17	66251959	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	518212	66251959	14943251	2126	60340											
ABCA9	10350	broad.mit.edu	37	chr17	67016551	67016551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtccacaggctttttctttCtttctttaactttaggaagc	8	18	6	9	0	3	0	0	0	3	0	4	1	4	1	1	2	2	1	1	2	3	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:67016551C>T	ENST00000340001.4	-	19	2789	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	ABCA9_ENST00000453985.2_Missense_Mutation_p.E860K|ABCA9_ENST00000370732.2_Missense_Mutation_p.E860K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	860					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTTTTTCTTTCTTTCTTTAAC	0.388													29	58					0	0	0	0	T	67016551	C	T	67016551	3	4	328	1	0	0	0	0	1	0	0	0	39	922	32	2	2380	2	ABCA9	17	67016551	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	764592	67016551	14178659	2127	60341											
KCNJ16	3773	broad.mit.edu	37	chr17	68128775	68128775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaagagagcccaaaccattCgtttcagctactttgcactt	12	11	7	11	1	1	1	1	0	0	1	2	3	1	1	2	0	5	3	2	0	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:68128775C>T	ENST00000585558.1	+	4	1040	c.652C>T	c.(652-654)Cgt>Tgt	p.R218C	KCNJ16_ENST00000283936.1_Missense_Mutation_p.R183C|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R183C|KCNJ16_ENST00000586462.1_Missense_Mutation_p.R222C|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R183C|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R183C			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	183					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CCAAACCATTCGTTTCAGCTA	0.463													24	64					0	0	0	0	T	68128775	C	T	68128775	3	4	328	1	0	0	0	0	1	0	0	0	8103	884	31	1	549	1	KCNJ16	17	68128775	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1112224	68128775	13066435	2128	60342											
SSTR2	6752	broad.mit.edu	37	chr17	71166355	71166355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgtttgactttgtggtggtCctcacctatgctaacagctg	7	15	10	9	0	1	1	1	1	0	0	2	1	2	1	2	2	3	3	2	2	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:71166355C>T	ENST00000357585.2	+	2	1266	c.897C>T	c.(895-897)gtC>gtT	p.V299V	SSTR2_ENST00000315332.2_Silent_p.V299V|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	299					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TTGTGGTGGTCCTCACCTATG	0.493													35	50					0	0	0	0	T	71166355	C	T	71166355	2	4	328	1	0	0	0	0	0	0	0	1	15288	842	30	2		2	SSTR2	17	71166355	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3037580	71166355	10028855	2129	60343											
C17orf77	146723	broad.mit.edu	37	chr17	72588512	72588512	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttacatattaggagaaaaGaggtgtcattctttgaaaag	15	14	9	3	0	2	3	1	1	1	2	2	4	2	3	0	2	1	0	0	2	7	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:72588512G>A	ENST00000392620.1	+	3	689	c.327G>A	c.(325-327)aaG>aaA	p.K109K	C17orf77_ENST00000328023.2_Silent_p.K109K	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	109						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TAGGAGAAAAGAGGTGTCATT	0.428													46	57					0	0	0	0	A	72588512	G	A	72588512	2	1	328	1	0	0	0	0	0	0	0	1	1898	933	33	2		2	C17orf77	17	72588512	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1422157	72588512	8606698	2130	60344											
CD300E	342510	broad.mit.edu	37	chr17	72608871	72608871	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagcaggggcagcttcAgaaggaccacgagcaggaag	13	3	16	9	1	2	1	2	0	0	1	2	5	2	4	1	5	3	4	1	5	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:72608871A>C	ENST00000392619.1	-	4	655	c.620T>G	c.(619-621)cTg>cGg	p.L207R	CD300E_ENST00000426295.2_Missense_Mutation_p.L221R|CD300E_ENST00000328630.3_Missense_Mutation_p.L180R	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	180						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGCAGCTTCAGAAGGACCAC	0.617													36	56					0	0	0	0	C	72608871	A	C	72608871	3	2	328	1	0	0	0	0	1	0	0	0	3027	188	7	5	82	5	CD300E	17	72608871	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	20359	72608871	8586339	2131	60345											
CD300LF	146722	broad.mit.edu	37	chr17	72691918	72691918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagaggaaagcttcgtGgtagccttttgcggggaggt	7	10	18	6	2	0	1	0	0	0	1	1	3	0	3	1	6	3	3	1	6	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:72691918G>A	ENST00000469092.1	-	6	835	c.559C>T	c.(559-561)Cac>Tac	p.H187Y	CD300LF_ENST00000326165.6_Silent_p.T221T|CD300LF_ENST00000583937.1_Silent_p.T236T|CD300LF_ENST00000581500.1_Missense_Mutation_p.H232Y|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000361254.4_Missense_Mutation_p.H232Y|CD300LF_ENST00000301573.9_Missense_Mutation_p.H237Y|CD300LF_ENST00000464910.1_Silent_p.T224T|CD300LF_ENST00000343125.4_Missense_Mutation_p.H187Y			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	0						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AAAGCTTCGTGGTAGCCTTTT	0.632													21	32					0	0	0	0	A	72691918	G	A	72691918	3	1	328	1	0	0	0	0	1	0	0	0	3030	1335	47	4	217	4	CD300LF	17	72691918	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	83047	72691918	8503292	2132	60346											
GRIN2C	2905	broad.mit.edu	37	chr17	72848616	72848616	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acggcgcgcacgccctccagGaagagcgcgtggcccgggtg	6	3	17	15	7	0	1	0	0	0	1	1	2	1	2	3	4	1	1	3	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:72848616G>A	ENST00000293190.5	-	3	680	c.534C>T	c.(532-534)ttC>ttT	p.F178F	GRIN2C_ENST00000578159.1_5'UTR|GRIN2C_ENST00000347612.4_Silent_p.F178F	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	178					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CGCCCTCCAGGAAGAGCGCGT	0.716													6	11					0	0	0	0	A	72848616	G	A	72848616	2	1	328	1	0	0	0	0	0	0	0	1	6831	1165	41	2		2	GRIN2C	17	72848616	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	156698	72848616	8346594	2133	60347											
ARMC7	79637	broad.mit.edu	37	chr17	73125084	73125084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcagccggcaggcgcactCtgccctgggtatcccactgc	5	6	12	18	3	1	0	0	0	1	0	2	0	2	0	4	3	3	4	4	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:73125084C>T	ENST00000245543.1	+	3	850	c.548C>T	c.(547-549)tCt>tTt	p.S183F	ARMC7_ENST00000579096.1_3'UTR|ARMC7_ENST00000581078.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	183							binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CAGGCGCACTCTGCCCTGGGT	0.697													21	13					0	0	0	0	T	73125084	C	T	73125084	3	4	328	1	0	0	0	0	1	0	0	0	960	913	32	2	558	2	ARMC7	17	73125084	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	276468	73125084	8070126	2134	60348											
NUP85	79902	broad.mit.edu	37	chr17	73230731	73230731	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgctcttgtttcgccataGgaaagtatcgcgagttccac	9	12	10	10	3	1	0	0	0	1	0	4	2	2	1	2	1	1	4	2	1	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:73230731G>A	ENST00000447371.2	+	16	1535		c.e16-1		NUP85_ENST00000579324.1_Splice_Site|NUP85_ENST00000579298.1_Splice_Site|NUP85_ENST00000540768.1_Splice_Site|NUP85_ENST00000541827.1_Splice_Site|NUP85_ENST00000245544.4_Splice_Site			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TTTCGCCATAGGAAAGTATCG	0.517													44	98					0	0	0	0	A	73230731	G	A	73230731	5	1	328	1	0	0	0	0	0	0	1	0	10841	1014	35	4	1681	4	NUP85	17	73230731	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	105647	73230731	7964479	2135	60349											
SLC25A19	60386	broad.mit.edu	37	chr17	73282738	73282738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacggatcttgatgacgtcGaagggactgatcagcgcccg	11	7	13	10	5	2	3	1	3	1	0	3	6	2	5	1	2	2	0	1	2	2	1	rs138021838	by1000genomes	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:73282738G>A	ENST00000402418.3	-	1	1017	c.108C>T	c.(106-108)ttC>ttT	p.F36F	SLC25A19_ENST00000375261.4_Silent_p.F36F|SLC25A19_ENST00000416858.2_Silent_p.F36F|SLC25A19_ENST00000580994.1_Silent_p.F36F|SLC25A19_ENST00000320362.3_Silent_p.F36F|SLC25A19_ENST00000442286.2_Silent_p.F36F			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	36						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			TGATGACGTCGAAGGGACTGA	0.498													20	33					0	0	0	0	A	73282738	G	A	73282738	2	1	328	1	0	0	0	0	0	0	0	1	14569	1049	37	1		1	SLC25A19	17	73282738	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	52007	73282738	7912472	2136	60350											
LLGL2	3993	broad.mit.edu	37	chr17	73565309	73565309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccccttctccaggtgggctCctttgacccctacagtgatg	5	12	9	15	0	1	2	0	2	1	0	4	2	3	2	6	2	1	1	6	2	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:73565309C>T	ENST00000392550.3	+	14	1601	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	LLGL2_ENST00000167462.5_Missense_Mutation_p.S495F|LLGL2_ENST00000577200.1_Missense_Mutation_p.S495F	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	495					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGGTGGGCTCCTTTGACCCC	0.657													25	53					0	0	0	0	T	73565309	C	T	73565309	3	4	328	1	0	0	0	0	1	0	0	0	8889	855	30	2	1569	2	LLGL2	17	73565309	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	282571	73565309	7629901	2137	60351											
ACOX1	51	broad.mit.edu	37	chr17	73945810	73945810	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagctcacctggctgcacgGagtttatatgcttcggttag	8	12	12	9	2	1	1	1	0	0	1	2	2	1	2	1	3	3	6	1	3	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:73945810G>A	ENST00000537812.1	-	10	2001	c.1353C>T	c.(1351-1353)ctC>ctT	p.L451L	ACOX1_ENST00000301608.4_Silent_p.L489L|ACOX1_ENST00000293217.5_Silent_p.L489L	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	489					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TGGCTGCACGGAGTTTATATG	0.557													23	41					0	0	0	0	A	73945810	G	A	73945810	2	1	328	1	0	0	0	0	0	0	0	1	158	1161	41	2		2	ACOX1	17	73945810	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	380501	73945810	7249400	2138	60352											
EVPL	2125	broad.mit.edu	37	chr17	74003456	74003456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctcttggggtcgatgaGccccccggtcaggtgctgca	4	10	14	13	2	2	1	1	1	1	0	4	2	3	1	4	4	3	2	4	4	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:74003456G>A	ENST00000301607.3	-	22	6083	c.5830C>T	c.(5830-5832)Ctc>Ttc	p.L1944F	EVPL_ENST00000586740.1_Missense_Mutation_p.L1966F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1944	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGTCGATGAGCCCCCCGGTC	0.672													28	35					0	0	0	0	A	74003456	G	A	74003456	3	1	328	1	0	0	0	0	1	0	0	0	5330	971	34	4	275	4	EVPL	17	74003456	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	57646	74003456	7191754	2139	60353											
EVPL	2125	broad.mit.edu	37	chr17	74019697	74019697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcggcccgtctcctgctgGtgctgcagggcctggctctg	1	10	15	15	2	2	0	0	0	2	0	3	0	2	0	3	4	4	4	3	4	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:74019697G>A	ENST00000301607.3	-	3	490	c.237C>T	c.(235-237)caC>caT	p.H79H	EVPL_ENST00000586740.1_Silent_p.H79H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	79	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTCCTGCTGGTGCTGCAGGG	0.687													4	11					0	0	0	0	A	74019697	G	A	74019697	2	1	328	1	0	0	0	0	0	0	0	1	5330	1252	44	4		4	EVPL	17	74019697	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	16241	74019697	7175513	2140	60354											
GALR2	8811	broad.mit.edu	37	chr17	74073173	74073173	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccacttatgcgcttcgcatCctctcgcacctggtctccta	5	12	7	17	3	2	0	0	0	2	0	6	0	3	0	4	1	1	3	4	1	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:74073173C>T	ENST00000329003.3	+	2	915	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	275					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CGCTTCGCATCCTCTCGCACC	0.642													10	13					0	0	0	0	T	74073173	C	T	74073173	2	4	328	1	0	0	0	0	0	0	0	1	6277	845	30	2		2	GALR2	17	74073173	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	53476	74073173	7122037	2141	60355											
MXRA7	439921	broad.mit.edu	37	chr17	74679982	74679982	+	Silent	SNP	G	G	A																															acctaaggaacttgctacagGgaagtgaggtcagaggtcag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:74679982G>A	ENST00000375036.2	-	4	585	c.528C>T	c.(526-528)tcC>tcT	p.S176S	MXRA7_ENST00000589082.1_Silent_p.S21S|MXRA7_ENST00000592148.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000355797.3_Intron	NM_001008529.1	NP_001008529.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	0						integral to membrane				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CTTGCTACAGGGAAGTGAGGT	0.498													18	61					0	0	0	0	A	74679982	G	A	74679982	2	1	328	1	0	0	0	0	0	0	0	1	10074	1219	43	4		4	MXRA7	17	74679982	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	606809	74679982	6515228	2142	60356	677	2									
MXRA7	439921	broad.mit.edu	37	chr17	74679983	74679983	+	Missense_Mutation	SNP	G	G	A																															cctaaggaacttgctacaggGaagtgaggtcagaggtcagc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:74679983G>A	ENST00000375036.2	-	4	584	c.527C>T	c.(526-528)tCc>tTc	p.S176F	MXRA7_ENST00000589082.1_Missense_Mutation_p.S21F|MXRA7_ENST00000592148.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000355797.3_Intron	NM_001008529.1	NP_001008529.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	0						integral to membrane				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TTGCTACAGGGAAGTGAGGTC	0.498													18	61					0	0	0	0	A	74679983	G	A	74679983	3	1	328	1	0	0	0	0	1	0	0	0	10074	1174	41	2	146	2	MXRA7	17	74679983	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	74679983	6515227	2143	60357	677	2									
SEC14L1	6397	broad.mit.edu	37	chr17	75199689	75199689	+	Missense_Mutation	SNP	G	G	A																															gtgctcaggctggggcagatGgacaccaaaggcttggtgag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:75199689G>A	ENST00000413679.2	+	10	1350	c.1047G>A	c.(1045-1047)atG>atA	p.M349I	SEC14L1_ENST00000430767.4_Missense_Mutation_p.M349I|SEC14L1_ENST00000585618.1_Missense_Mutation_p.M349I|SEC14L1_ENST00000392476.2_Missense_Mutation_p.M349I|SEC14L1_ENST00000591437.1_Missense_Mutation_p.M315I|SEC14L1_ENST00000436233.4_Missense_Mutation_p.M349I|SEC14L1_ENST00000443798.4_Missense_Mutation_p.M349I|SEC14L1_ENST00000431431.2_Missense_Mutation_p.M315I	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	349	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGGGGCAGATGGACACCAAAG	0.587													6	15					0	0	0	0	A	75199689	G	A	75199689	3	1	328	1	0	0	0	0	1	0	0	0	14068	1348	47	4	1077	4	SEC14L1	17	75199689	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	519706	75199689	5995521	2144	60358	678	2									
SEC14L1	6397	broad.mit.edu	37	chr17	75199690	75199690	+	Missense_Mutation	SNP	G	G	A																															tgctcaggctggggcagatgGacaccaaaggcttggtgaga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:75199690G>A	ENST00000413679.2	+	10	1351	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	SEC14L1_ENST00000430767.4_Missense_Mutation_p.D350N|SEC14L1_ENST00000585618.1_Missense_Mutation_p.D350N|SEC14L1_ENST00000392476.2_Missense_Mutation_p.D350N|SEC14L1_ENST00000591437.1_Missense_Mutation_p.D316N|SEC14L1_ENST00000436233.4_Missense_Mutation_p.D350N|SEC14L1_ENST00000443798.4_Missense_Mutation_p.D350N|SEC14L1_ENST00000431431.2_Missense_Mutation_p.D316N	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	350	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGGGCAGATGGACACCAAAGG	0.582													6	15					0	0	0	0	A	75199690	G	A	75199690	3	1	328	1	0	0	0	0	1	0	0	0	14068	1174	41	2	1078	2	SEC14L1	17	75199690	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	75199690	5995520	2145	60359	678	2									
AFMID	125061	broad.mit.edu	37	chr17	76200817	76200817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggcttacggcatcgcccCcaaaggtaataggagtggtt	10	9	13	9	2	0	0	0	0	0	0	1	1	0	1	2	5	1	4	2	5	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:76200817C>T	ENST00000409257.5	+	5	443	c.389C>T	c.(388-390)cCc>cTc	p.P130L	AFMID_ENST00000589664.1_Intron|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000327898.5_Missense_Mutation_p.P130L	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	130						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GGCATCGCCCCCAAAGGTAAT	0.592													13	27					0	0	0	0	T	76200817	C	T	76200817	3	4	328	1	0	0	0	0	1	0	0	0	362	623	22	4	407	4	AFMID	17	76200817	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1001127	76200817	4994393	2146	60360											
AFMID	125061	broad.mit.edu	37	chr17	76202114	76202114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgagaatctgacccagaagGacaacgtgctcacccaggtg	12	7	11	11	1	2	3	1	2	1	2	2	5	2	4	2	2	2	1	2	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:76202114G>A	ENST00000409257.5	+	10	922	c.868G>A	c.(868-870)Gac>Aac	p.D290N	AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000588800.1_3'UTR|AFMID_ENST00000327898.5_Missense_Mutation_p.D295N	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	290						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GACCCAGAAGGACAACGTGCT	0.552													6	31					0	0	0	0	A	76202114	G	A	76202114	3	1	328	1	0	0	0	0	1	0	0	0	362	1174	41	2	921	2	AFMID	17	76202114	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1297	76202114	4993096	2147	60361											
DNAH17	8632	broad.mit.edu	37	chr17	76455995	76455995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtccttggggatcttgcccCcaggtgcggtcagaatcatg	6	11	13	11	1	3	1	2	0	1	1	4	2	4	2	3	4	2	0	3	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:76455995C>T	ENST00000389840.5	-	60	9606	c.9482G>A	c.(9481-9483)gGg>gAg	p.G3161E	DNAH17_ENST00000585328.1_Missense_Mutation_p.G3170E|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCTTGCCCCCAGGTGCGGT	0.572													24	34					0	0	0	0	T	76455995	C	T	76455995	3	4	328	1	0	0	0	0	1	0	0	0	4638	623	22	4	3952	4	DNAH17	17	76455995	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	253881	76455995	4739215	2148	60362											
CARD14	79092	broad.mit.edu	37	chr17	78165220	78165220	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgagctgacggaccaggtCtgcgagctgcgcacacagct	8	7	13	13	4	1	1	0	1	1	0	2	4	1	2	1	2	5	4	1	2	0	1	rs147432650		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:78165220C>T	ENST00000573882.1	+	10	1724	c.1188C>T	c.(1186-1188)gtC>gtT	p.V396V	CARD14_ENST00000392434.2_Silent_p.V159V|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Silent_p.V396V|CARD14_ENST00000570421.1_Silent_p.V396V			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	396					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGGACCAGGTCTGCGAGCTGC	0.667													33	54					0	0	0	0	T	78165220	C	T	78165220	2	4	328	1	0	0	0	0	0	0	0	1	2671	900	32	2		2	CARD14	17	78165220	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1709225	78165220	3029990	2149	60363											
SLC26A11	284129	broad.mit.edu	37	chr17	78197055	78197055	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctcttggctggccagggttCctgctggacttcatttccta	4	14	10	13	0	2	0	1	0	1	0	4	1	4	1	4	4	1	3	4	4	1	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:78197055C>T	ENST00000361193.3	+	5	712	c.432C>T	c.(430-432)ttC>ttT	p.F144F	SLC26A11_ENST00000546047.2_Silent_p.F144F|SLC26A11_ENST00000572725.1_Silent_p.F144F|SLC26A11_ENST00000411502.3_Silent_p.F144F	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	144						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGCCAGGGTTCCTGCTGGACT	0.617													17	23					0	0	0	0	T	78197055	C	T	78197055	2	4	328	1	0	0	0	0	0	0	0	1	14604	854	30	2		2	SLC26A11	17	78197055	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	31835	78197055	2998155	2150	60364											
RPTOR	57521	broad.mit.edu	37	chr17	78899197	78899197	+	Missense_Mutation	SNP	G	G	A																															acgacgcggacgatgctgctGgacacaaaagtttcatctcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:78899197G>A	ENST00000306801.3	+	24	3198	c.2836G>A	c.(2836-2838)Gga>Aga	p.G946R	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.G788R	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	946					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGATGCTGCTGGACACAAAAG	0.582													19	31					0	0	0	0	A	78899197	G	A	78899197	3	1	328	1	0	0	0	0	1	0	0	0	13750	1349	47	4	2930	4	RPTOR	17	78899197	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	702142	78899197	2296013	2151	60365	679	2									
RPTOR	57521	broad.mit.edu	37	chr17	78899198	78899198	+	Missense_Mutation	SNP	G	G	A																															cgacgcggacgatgctgctgGacacaaaagtttcatctccg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:78899198G>A	ENST00000306801.3	+	24	3199	c.2837G>A	c.(2836-2838)gGa>gAa	p.G946E	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.G788E	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	946					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GATGCTGCTGGACACAAAAGT	0.582													18	32					0	0	0	0	A	78899198	G	A	78899198	3	1	328	1	0	0	0	0	1	0	0	0	13750	1174	41	2	2931	2	RPTOR	17	78899198	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	78899198	2296012	2152	60366	679	2									
HGS	9146	broad.mit.edu	37	chr17	79655763	79655763	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtaaacgtccgtaacaaGatcctgtacctgatccaggc	12	8	10	11	2	0	2	0	1	0	1	3	3	3	2	4	2	3	3	4	2	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:79655763G>A	ENST00000329138.4	+	5	456	c.321G>A	c.(319-321)aaG>aaA	p.K107K		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	107	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TCCGTAACAAGATCCTGTACC	0.597													11	18					0	0	0	0	A	79655763	G	A	79655763	2	1	328	1	0	0	0	0	0	0	0	1	7137	933	33	2		2	HGS	17	79655763	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	756565	79655763	1539447	2153	60367											
FASN	2194	broad.mit.edu	37	chr17	80046140	80046140	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagaggacgcgaccgtcgagGgtgtggtccaccaggtagtg	9	6	17	9	4	0	1	0	0	0	1	2	4	1	2	3	4	0	1	3	4	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:80046140G>A	ENST00000306749.2	-	17	2855	c.2637C>T	c.(2635-2637)acC>acT	p.T879T		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	879					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GACCGTCGAGGGTGTGGTCCA	0.677													21	23					0	0	0	0	A	80046140	G	A	80046140	2	1	328	1	0	0	0	0	0	0	0	1	5728	1219	43	4		4	FASN	17	80046140	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	390377	80046140	1149070	2154	60368											
UTS2R	2837	broad.mit.edu	37	chr17	80332634	80332634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcacgctgaccgtcatgaGcagcgagcgctacgctgcgg	7	7	13	14	6	2	2	2	2	0	0	2	3	2	2	1	1	5	4	1	1	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:80332634G>A	ENST00000313135.2	+	1	482	c.434G>A	c.(433-435)aGc>aAc	p.S145N		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	145						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			ACCGTCATGAGCAGCGAGCGC	0.687													10	13					0	0	0	0	A	80332634	G	A	80332634	3	1	328	1	0	0	0	0	1	0	0	0	17202	971	34	4	436	4	UTS2R	17	80332634	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	286494	80332634	862576	2155	60369											
YES1	7525	broad.mit.edu	37	chr18	724563	724563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaattcatggagggattctGgacagccctgagggcacggc	9	8	14	10	1	3	1	2	1	1	0	3	4	3	4	1	5	1	1	1	5	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:724563G>A	ENST00000584307.1	-	12	1663	c.1493C>T	c.(1492-1494)cCa>cTa	p.P498L	YES1_ENST00000314574.4_Missense_Mutation_p.P498L|YES1_ENST00000577961.1_Missense_Mutation_p.P503L			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	498	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GAGGGATTCTGGACAGCCCTG	0.418													32	41					0	0	0	0	A	724563	G	A	724563	3	1	328	1	0	0	0	0	1	0	0	0	17570	1348	47	4	142	4	YES1	18	724563	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08		724563	77352685	2156	60370											
METTL4	64863	broad.mit.edu	37	chr18	2547411	2547411	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagggataaagttcttcCtttataaaacgtaggtgctt	13	13	9	6	1	1	1	0	0	1	1	2	2	2	2	1	2	2	3	1	2	7	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:2547411C>T	ENST00000319888.6	-	6	1815	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	METTL4_ENST00000574538.1_Silent_p.K339K			Q8N3J2	METL4_HUMAN	methyltransferase like 4	339					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AAAGTTCTTCCTTTATAAAAC	0.408													29	43					0	0	0	0	T	2547411	C	T	2547411	2	4	328	1	0	0	0	0	0	0	0	1	9571	680	24	4		4	METTL4	18	2547411	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1822848	2547411	75529837	2157	60371											
LAMA1	284217	broad.mit.edu	37	chr18	6950940	6950940	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaatcaggccgctggaggcGaacgtgcggatgcttagctc	9	8	14	10	4	1	0	1	0	0	0	2	3	1	2	1	4	4	3	1	4	4	2	rs150815120		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:6950940G>A	ENST00000389658.3	-	58	8331	c.8238C>T	c.(8236-8238)ttC>ttT	p.F2746F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2746	Laminin G-like 4.			F -> L (in Ref. 4).	axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCTGGAGGCGAACGTGCGGA	0.507													11	19					0	0	0	0	A	6950940	G	A	6950940	2	1	328	1	0	0	0	0	0	0	0	1	8658	1049	37	1		1	LAMA1	18	6950940	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4403529	6950940	71126308	2158	60372											
LAMA1	284217	broad.mit.edu	37	chr18	7023295	7023295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagtgaccagcctccgaggGgtccacgttgccgctgcagt	7	7	13	14	3	0	1	0	1	0	0	2	2	2	1	5	2	3	3	5	2	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:7023295G>A	ENST00000389658.3	-	19	2662	c.2569C>T	c.(2569-2571)Ccc>Tcc	p.P857S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	857	Laminin EGF-like 8.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTCCGAGGGGTCCACGTTG	0.552													23	40					0	0	0	0	A	7023295	G	A	7023295	3	1	328	1	0	0	0	0	1	0	0	0	8658	1232	43	4	6838	4	LAMA1	18	7023295	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	72355	7023295	71053953	2159	60373											
LRRC30	339291	broad.mit.edu	37	chr18	7231424	7231424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggggaaactgacccggatCgtggtcctgaacttgtgcgg	7	9	16	9	3	0	2	0	2	0	0	2	4	1	4	2	5	3	0	2	5	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:7231424C>T	ENST00000383467.2	+	1	302	c.288C>T	c.(286-288)atC>atT	p.I96I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	96										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGACCCGGATCGTGGTCCTGA	0.577													18	37					0	0	0	0	T	7231424	C	T	7231424	2	4	328	1	0	0	0	0	0	0	0	1	9049	874	31	1		1	LRRC30	18	7231424	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	208129	7231424	70845824	2160	60374											
PTPRM	5797	broad.mit.edu	37	chr18	7888244	7888244	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagtaattctcctccggggTtactcaatgtctacgtgaag	10	12	10	9	2	3	2	1	1	2	1	5	2	4	2	2	2	2	2	2	2	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:7888244T>C	ENST00000332175.8	+	3	1374	c.337T>C	c.(337-339)Tta>Cta	p.L113L	PTPRM_ENST00000580170.1_Silent_p.L113L|PTPRM_ENST00000400053.4_Silent_p.L51L|PTPRM_ENST00000400060.4_Silent_p.L113L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	113	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCCTCCGGGGTTACTCAATGT	0.483													30	56					0	0	0	0	C	7888244	T	C	7888244	2	2	328	1	0	0	0	0	0	0	0	1	12888	1722	60	5		5	PTPRM	18	7888244	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	656820	7888244	70189004	2161	60375											
TWSG1	57045	broad.mit.edu	37	chr18	9396481	9396481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttagaaactgtgaaccagCcacaccaccagaatgtgtct	13	10	7	11	0	1	3	0	1	1	2	1	3	1	3	4	0	3	0	4	0	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:9396481C>T	ENST00000262120.5	+	4	618	c.427C>T	c.(427-429)Cca>Tca	p.P143S	TWSG1_ENST00000581641.1_Missense_Mutation_p.P143S	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	143										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TGTGAACCAGCCACACCACCA	0.443													34	53					0	0	0	0	T	9396481	C	T	9396481	3	4	328	1	0	0	0	0	1	0	0	0	16881	739	26	4	437	4	TWSG1	18	9396481	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1508237	9396481	68680767	2162	60376											
CEP76	79959	broad.mit.edu	37	chr18	12678181	12678181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttactgacgcgtcaattgtgGatgcacacagaggtggaaag	12	9	13	7	2	1	2	1	1	0	1	1	4	1	4	0	3	2	1	0	3	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:12678181G>A	ENST00000262127.2	-	10	1775	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000423709.2_Missense_Mutation_p.S442F	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	517					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTCAATTGTGGATGCACACAG	0.443													43	65					0	0	0	0	A	12678181	G	A	12678181	3	1	328	1	0	0	0	0	1	0	0	0	3290	1174	41	2	441	2	CEP76	18	12678181	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3281700	12678181	65399067	2163	60377											
CEP192	55125	broad.mit.edu	37	chr18	13067878	13067878	+	Missense_Mutation	SNP	G	G	A																															attttggtgacttgacttatGgaggctggaaagccctccca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:13067878G>A	ENST00000506447.1	+	22	4617	c.4537G>A	c.(4537-4539)Gga>Aga	p.G1513R	CEP192_ENST00000325971.8_Missense_Mutation_p.G917R|CEP192_ENST00000430049.2_Missense_Mutation_p.G1038R	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1108										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTGACTTATGGAGGCTGGAA	0.348													39	42					0	0	0	0	A	13067878	G	A	13067878	3	1	328	1	0	0	0	0	1	0	0	0	3280	1349	47	4	4619	4	CEP192	18	13067878	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	389697	13067878	65009370	2164	60378	680	2									
CEP192	55125	broad.mit.edu	37	chr18	13067879	13067879	+	Missense_Mutation	SNP	G	G	A																															ttttggtgacttgacttatgGaggctggaaagccctcccac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:13067879G>A	ENST00000506447.1	+	22	4618	c.4538G>A	c.(4537-4539)gGa>gAa	p.G1513E	CEP192_ENST00000325971.8_Missense_Mutation_p.G917E|CEP192_ENST00000430049.2_Missense_Mutation_p.G1038E	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1108										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGACTTATGGAGGCTGGAAA	0.343													36	40					0	0	0	0	A	13067879	G	A	13067879	3	1	328	1	0	0	0	0	1	0	0	0	3280	1174	41	2	4620	2	CEP192	18	13067879	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	13067879	65009369	2165	60379	680	2									
POTEC	388468	broad.mit.edu	37	chr18	14511982	14511982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttcttctttcttatgaCtaagagaaagctaagtaaac	14	14	6	7	0	4	2	0	1	4	1	4	4	4	2	0	0	2	2	0	0	6	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:14511982C>T	ENST00000358970.5	-	11	1543	c.1544G>A	c.(1543-1545)aGt>aAt	p.S515N		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	515										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTTCTTATGACTAAGAGAAAG	0.323													10	16					0	0	0	0	T	14511982	C	T	14511982	3	4	328	1	0	0	0	0	1	0	0	0	12334	565	20	4	88	4	POTEC	18	14511982	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1444103	14511982	63565266	2166	60380											
POTEC	388468	broad.mit.edu	37	chr18	14534953	14534953	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttcttgattaaaaatttCaccacttgctgtttttgttc	8	22	4	7	0	2	1	1	1	1	0	3	1	2	1	1	0	1	3	1	0	3	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:14534953C>T	ENST00000358970.5	-	4	863	c.864G>A	c.(862-864)gtG>gtA	p.V288V	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	288										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTAAAAATTTCACCACTTGCT	0.299													18	60					0	0	0	0	T	14534953	C	T	14534953	2	4	328	1	0	0	0	0	0	0	0	1	12334	813	29	2		2	POTEC	18	14534953	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	22971	14534953	63542295	2167	60381											
TTC39C	125488	broad.mit.edu	37	chr18	21649177	21649177	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcttcagaggcagataatCatagctgactgccaggttta	11	10	11	9	1	2	3	2	1	0	2	2	3	2	3	1	3	2	4	1	3	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:21649177C>A	ENST00000317571.3	+	4	638	c.402C>A	c.(400-402)atC>atA	p.I134I	TTC39C_ENST00000304621.6_Silent_p.I73I|TTC39C_ENST00000578150.1_Intron	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	134							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GGCAGATAATCATAGCTGACT	0.413													32	51					8.69298e-16	8.84117e-16	1	0	A	21649177	C	A	21649177	2	1	328	1	0	0	0	0	0	0	0	1	16805	816	29	2		2	TTC39C	18	21649177	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7114224	21649177	56428071	2168	60382											
ZNF521	25925	broad.mit.edu	37	chr18	22804787	22804787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catggattttgagttccaagGtggaggtcactgtctgcatg	8	13	13	7	0	2	1	1	1	1	0	3	3	3	3	1	4	1	2	1	4	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:22804787G>T	ENST00000361524.3	-	4	3243	c.3095C>A	c.(3094-3096)aCc>aAc	p.T1032N	ZNF521_ENST00000584787.1_Missense_Mutation_p.T812N|ZNF521_ENST00000538137.2_Missense_Mutation_p.T1032N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1032					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGTTCCAAGGTGGAGGTCAC	0.517			T	PAX5	ALL								18	30					5.03518e-11	5.08849e-11	1	0	T	22804787	G	T	22804787	3	4	328	1	0	0	0	0	1	0	0	0	18060	1261	44	4	860	4	ZNF521	18	22804787	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1155610	22804787	55272461	2169	60383											
ZNF521	25925	broad.mit.edu	37	chr18	22806772	22806772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attggcggggcagcttccacCatggttgagctgtccactga	7	10	13	11	1	0	2	0	2	0	0	2	2	2	2	3	4	2	4	3	4	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:22806772C>T	ENST00000361524.3	-	4	1258	c.1110G>A	c.(1108-1110)atG>atA	p.M370I	ZNF521_ENST00000584787.1_Missense_Mutation_p.M150I|ZNF521_ENST00000538137.2_Missense_Mutation_p.M370I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	370					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGCTTCCACCATGGTTGAGC	0.552			T	PAX5	ALL								16	46					0	0	0	0	T	22806772	C	T	22806772	3	4	328	1	0	0	0	0	1	0	0	0	18060	594	21	4	2845	4	ZNF521	18	22806772	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1985	22806772	55270476	2170	60384											
ZNF521	25925	broad.mit.edu	37	chr18	22806824	22806824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggagtcgtactggacacgGaggtatagcccaccgtgacc	9	7	13	12	3	0	1	0	1	0	0	1	4	0	4	3	4	2	2	3	4	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:22806824G>A	ENST00000361524.3	-	4	1206	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	ZNF521_ENST00000584787.1_Missense_Mutation_p.S133F|ZNF521_ENST00000538137.2_Missense_Mutation_p.S353F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	353					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACTGGACACGGAGGTATAGCC	0.572			T	PAX5	ALL								23	41					0	0	0	0	A	22806824	G	A	22806824	3	1	328	1	0	0	0	0	1	0	0	0	18060	1174	41	2	2897	2	ZNF521	18	22806824	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	52	22806824	55270424	2171	60385											
CHST9	83539	broad.mit.edu	37	chr18	24496869	24496869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttagtaccatcagaattCttttccaattggaacagcca	13	13	5	10	0	2	1	1	0	1	1	3	2	3	2	3	1	3	1	3	1	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:24496869C>T	ENST00000284224.8	-	6	963	c.686G>A	c.(685-687)aGa>aAa	p.R229K	CHST9_ENST00000581714.1_Missense_Mutation_p.R229K|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000580774.1_3'UTR	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	229					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CATCAGAATTCTTTTCCAATT	0.393													42	60					0	0	0	0	T	24496869	C	T	24496869	3	4	328	1	0	0	0	0	1	0	0	0	3440	913	32	2	649	2	CHST9	18	24496869	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1690045	24496869	53580379	2172	60386											
ASXL3	80816	broad.mit.edu	37	chr18	31324489	31324489	+	Silent	SNP	C	C	T																															ccggccacctgcacaagtctCcgagaattaccccttgttcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:31324489C>T	ENST00000269197.5	+	12	4677	c.4677C>T	c.(4675-4677)ctC>ctT	p.L1559L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCACAAGTCTCCGAGAATTAC	0.483											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	15					0	0	0	0	T	31324489	C	T	31324489	2	4	328	1	0	0	0	0	0	0	0	1	1072	842	30	2		2	ASXL3	18	31324489	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6827620	31324489	46752759	2173	60387	681	2									
ASXL3	80816	broad.mit.edu	37	chr18	31324490	31324490	+	Nonsense_Mutation	SNP	C	C	T																															cggccacctgcacaagtctcCgagaattaccccttgttcca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:31324490C>T	ENST00000269197.5	+	12	4678	c.4678C>T	c.(4678-4680)Cga>Tga	p.R1560*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACAAGTCTCCGAGAATTACC	0.488											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	15					0	0	0	0	T	31324490	C	T	31324490	4	4	328	1	0	0	0	0	0	1	0	0	1072	644	23	1	4724	1	ASXL3	18	31324490	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	31324490	46752758	2174	60388	681	2									
FHOD3	80206	broad.mit.edu	37	chr18	34340689	34340689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgaaaacctcgtccccctCcgtggaggacgccacccccg	7	5	10	19	4	0	1	0	1	0	0	3	3	2	3	7	2	1	1	7	2	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:34340689C>T	ENST00000257209.4	+	23	4141	c.4019C>T	c.(4018-4020)tCc>tTc	p.S1340F	FHOD3_ENST00000445677.1_Missense_Mutation_p.S1302F|FHOD3_ENST00000592128.1_Missense_Mutation_p.S319F|FHOD3_ENST00000591635.1_Missense_Mutation_p.S536F|FHOD3_ENST00000590592.1_Missense_Mutation_p.S1523F|FHOD3_ENST00000359247.4_Missense_Mutation_p.S1323F	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1323					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCGTCCCCCTCCGTGGAGGAC	0.672													16	24					0	0	0	0	T	34340689	C	T	34340689	3	4	328	1	0	0	0	0	1	0	0	0	5928	855	30	2	4109	2	FHOD3	18	34340689	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3016199	34340689	43736559	2175	60389											
TCEB3B	51224	broad.mit.edu	37	chr18	44560513	44560513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagagtgggctgctcgaattCctcagccatatctacctcct	8	11	8	14	1	2	1	1	0	1	1	5	2	4	1	4	1	3	2	4	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:44560513C>T	ENST00000332567.4	-	1	1475	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	375					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCTCGAATTCCTCAGCCATA	0.517													27	44					0	0	0	0	T	44560513	C	T	44560513	3	4	328	1	0	0	0	0	1	0	0	0	15776	864	30	2	1142	2	TCEB3B	18	44560513	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	10219824	44560513	33516735	2176	60390											
MYO5B	4645	broad.mit.edu	37	chr18	47527718	47527718	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatagcgcatggcatacttGgctgataccgtcttcccggc	9	10	10	12	3	1	1	0	1	1	0	2	1	2	1	2	3	3	3	2	3	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:47527718G>T	ENST00000285039.7	-	5	818	c.519C>A	c.(517-519)gcC>gcA	p.A173A		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	173	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGCATACTTGGCTGATACCG	0.517													39	67					4.32679e-17	4.40457e-17	1	0	T	47527718	G	T	47527718	2	4	328	1	0	0	0	0	0	0	0	1	10149	1335	47	4		4	MYO5B	18	47527718	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2967205	47527718	30549530	2177	60391											
DCC	1630	broad.mit.edu	37	chr18	50589706	50589706	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttttaaatcatccttccaaCctgtatgcctatgaaagcat	12	15	4	10	0	1	1	1	1	0	0	3	1	3	1	4	0	3	2	4	0	6	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:50589706C>T	ENST00000442544.2	+	6	1633	c.1017C>T	c.(1015-1017)aaC>aaT	p.N339N	DCC_ENST00000581580.1_5'UTR|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000412726.1_Silent_p.N187N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	339	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATCCTTCCAACCTGTATGCCT	0.438													98	124					0	0	0	0	T	50589706	C	T	50589706	2	4	328	1	0	0	0	0	0	0	0	1	4314	506	18	4		4	DCC	18	50589706	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3061988	50589706	27487542	2178	60392											
ST8SIA3	51046	broad.mit.edu	37	chr18	55020182	55020182	+	Silent	SNP	G	G	A																															agctacgtgtccctgaaaaaGgagaacatcttcaccactcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:55020182G>A	ENST00000324000.3	+	1	2139	c.105G>A	c.(103-105)aaG>aaA	p.K35K		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	35					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CCCTGAAAAAGGAGAACATCT	0.592													28	52					0	0	0	0	A	55020182	G	A	55020182	2	1	328	1	0	0	0	0	0	0	0	1	15323	991	35	4		4	ST8SIA3	18	55020182	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4430476	55020182	23057066	2179	60393	682	2									
ST8SIA3	51046	broad.mit.edu	37	chr18	55020183	55020183	+	Missense_Mutation	SNP	G	G	A																															gctacgtgtccctgaaaaagGagaacatcttcaccactccc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:55020183G>A	ENST00000324000.3	+	1	2140	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	36					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CCTGAAAAAGGAGAACATCTT	0.592													29	51					0	0	0	0	A	55020183	G	A	55020183	3	1	328	1	0	0	0	0	1	0	0	0	15323	1175	41	2	108	2	ST8SIA3	18	55020183	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	55020183	23057065	2180	60394	682	2									
NEDD4L	23327	broad.mit.edu	37	chr18	56001072	56001072	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaaccctcctcaaggtTgaggtcatgcagtgtcaccg	11	8	11	11	1	3	2	3	1	0	1	4	3	4	2	3	2	2	2	3	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:56001072T>G	ENST00000456986.1	+	12	1250	c.650T>G	c.(649-651)tTg>tGg	p.L217W	NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256830.9_Missense_Mutation_p.L338W|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L338W|NEDD4L_ENST00000256832.7_Missense_Mutation_p.L217W|NEDD4L_ENST00000357895.5_Missense_Mutation_p.L330W|NEDD4L_ENST00000431212.2_Missense_Mutation_p.L217W|NEDD4L_ENST00000456173.2_Missense_Mutation_p.L217W|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L330W|NEDD4L_ENST00000435432.2_Missense_Mutation_p.L217W|NEDD4L_ENST00000382850.4_Missense_Mutation_p.L338W|NEDD4L_ENST00000400345.3_Missense_Mutation_p.L338W	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	338	WW 1.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCCTCAAGGTTGAGGTCATGC	0.433													8	29					0	0	0	0	G	56001072	T	G	56001072	3	3	328	1	0	0	0	0	1	0	0	0	10381	1821	63	5	1087	5	NEDD4L	18	56001072	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	980889	56001072	22076176	2181	60395											
SERPINB12	89777	broad.mit.edu	37	chr18	61233999	61233999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattacggatatctttgatGaaacgagggctgatcttact	11	13	10	7	2	2	3	0	3	2	0	2	5	2	4	0	2	3	2	0	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:61233999G>A	ENST00000382768.1	+	7	1033	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	SERPINB12_ENST00000269491.1_Missense_Mutation_p.E325K			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	325					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TATCTTTGATGAAACGAGGGC	0.443													75	110					0	0	0	0	A	61233999	G	A	61233999	3	1	328	1	0	0	0	0	1	0	0	0	14186	1291	45	2	999	2	SERPINB12	18	61233999	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5232927	61233999	16843249	2182	60396											
CNDP1	84735	broad.mit.edu	37	chr18	72250826	72250826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagaaccagatatgatccggGatggatccaccattccaatt	13	9	8	11	1	0	3	0	1	0	2	3	5	3	5	5	2	1	0	5	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:72250826G>A	ENST00000582365.1	+	10	1276	c.1210G>A	c.(1210-1212)Gat>Aat	p.D404N	CNDP1_ENST00000358821.3_Missense_Mutation_p.D447N			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	447					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TATGATCCGGGATGGATCCAC	0.488													29	52					0	0	0	0	A	72250826	G	A	72250826	3	1	328	1	0	0	0	0	1	0	0	0	3623	1174	41	2	1381	2	CNDP1	18	72250826	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	11016827	72250826	5826422	2183	60397											
ZNF407	55628	broad.mit.edu	37	chr18	72347413	72347413	+	Missense_Mutation	SNP	C	C	T																															aggccagtgtggaggagcttCcggagggaggggccaccttt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:72347413C>T	ENST00000299687.5	+	1	4438	c.4438C>T	c.(4438-4440)Ccg>Tcg	p.P1480S	ZNF407_ENST00000309902.6_Missense_Mutation_p.P1480S|ZNF407_ENST00000577538.1_Missense_Mutation_p.P1480S|ZNF407_ENST00000582337.1_Missense_Mutation_p.P1480S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGAGGAGCTTCCGGAGGGAGG	0.468													10	11					0	0	0	0	T	72347413	C	T	72347413	3	4	328	1	0	0	0	0	1	0	0	0	17982	855	30	2	4440	2	ZNF407	18	72347413	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	96587	72347413	5729835	2184	60398	683	2									
ZNF407	55628	broad.mit.edu	37	chr18	72347414	72347414	+	Missense_Mutation	SNP	C	C	T																															ggccagtgtggaggagcttcCggagggaggggccaccttta																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:72347414C>T	ENST00000299687.5	+	1	4439	c.4439C>T	c.(4438-4440)cCg>cTg	p.P1480L	ZNF407_ENST00000309902.6_Missense_Mutation_p.P1480L|ZNF407_ENST00000577538.1_Missense_Mutation_p.P1480L|ZNF407_ENST00000582337.1_Missense_Mutation_p.P1480L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGGAGCTTCCGGAGGGAGGG	0.473													10	13					0	0	0	0	T	72347414	C	T	72347414	3	4	328	1	0	0	0	0	1	0	0	0	17982	652	23	1	4441	1	ZNF407	18	72347414	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	72347414	5729834	2185	60399	683	2									
TSHZ1	10194	broad.mit.edu	37	chr18	72999357	72999357	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgagaaggagaagagctcCctggccaaggctgcgtcccc	9	5	13	14	1	0	3	0	1	0	3	2	5	2	3	5	3	2	2	5	3	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:72999357C>T	ENST00000322038.5	+	2	2444	c.1860C>T	c.(1858-1860)tcC>tcT	p.S620S	TSHZ1_ENST00000580243.1_Silent_p.S665S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	665						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGAAGAGCTCCCTGGCCAAGG	0.557													26	46					0	0	0	0	T	72999357	C	T	72999357	2	4	328	1	0	0	0	0	0	0	0	1	16718	610	22	4		4	TSHZ1	18	72999357	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	651943	72999357	5077891	2186	60400											
SALL3	27164	broad.mit.edu	37	chr18	76752297	76752297	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagccttcgcccgccagctcCcccagcgagcgcgccgaaag	7	3	12	19	6	0	0	0	0	0	0	2	3	1	0	6	0	4	1	6	0	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:76752297C>T	ENST00000575389.2	+	2	306	c.306C>T	c.(304-306)tcC>tcT	p.S102S	SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000537592.2_Silent_p.S102S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGCCAGCTCCCCCAGCGAGC	0.766													7	5					0	0	0	0	T	76752297	C	T	76752297	2	4	328	1	0	0	0	0	0	0	0	1	13897	610	22	4		4	SALL3	18	76752297	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3752940	76752297	1324951	2187	60401											
SALL3	27164	broad.mit.edu	37	chr18	76753296	76753296	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcggcagcgacagcgcgctCcagatccacctgcgctcgca	7	6	11	17	6	0	1	0	0	0	1	4	2	2	1	3	1	3	4	3	1	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:76753296C>T	ENST00000536229.3	+	1	1615	c.906C>T	c.(904-906)ctC>ctT	p.L302L	SALL3_ENST00000575389.2_Silent_p.L435L|SALL3_ENST00000537592.2_Silent_p.L435L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACAGCGCGCTCCAGATCCACC	0.612													8	13					0	0	0	0	T	76753296	C	T	76753296	2	4	328	1	0	0	0	0	0	0	0	1	13897	842	30	2		2	SALL3	18	76753296	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	999	76753296	1323952	2188	60402											
ATP9B	374868	broad.mit.edu	37	chr18	77134009	77134009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgctgatggtggcgctgaCcgtccgcacgtggcactggc	4	8	16	13	4	0	2	0	2	0	0	1	2	1	2	2	4	1	5	2	4	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:77134009C>T	ENST00000426216.2	+	28	3199	c.3182C>T	c.(3181-3183)aCc>aTc	p.T1061I	ATP9B_ENST00000307671.7_Missense_Mutation_p.T1061I|ATP9B_ENST00000543761.1_Missense_Mutation_p.T382I	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1061					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GTGGCGCTGACCGTCCGCACG	0.567													23	52					0	0	0	0	T	77134009	C	T	77134009	3	4	328	1	0	0	0	0	1	0	0	0	1203	507	18	4	3292	4	ATP9B	18	77134009	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	380713	77134009	943239	2189	60403											
NFATC1	4772	broad.mit.edu	37	chr18	77170749	77170749	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccacggccacgctgagTctgcccagcctggaggccta	6	6	11	18	2	1	1	0	1	1	0	2	2	2	2	6	3	2	1	6	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:77170749T>A	ENST00000253506.5	+	2	843	c.474T>A	c.(472-474)agT>agA	p.S158R	NFATC1_ENST00000592223.1_Missense_Mutation_p.S145R|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.S158R|NFATC1_ENST00000427363.2_Missense_Mutation_p.S158R|NFATC1_ENST00000318065.5_Missense_Mutation_p.S145R|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.S158R|NFATC1_ENST00000329101.4_Missense_Mutation_p.S145R|NFATC1_ENST00000591814.1_Missense_Mutation_p.S158R|NFATC1_ENST00000586434.1_Missense_Mutation_p.S145R	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	158	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCACGCTGAGTCTGCCCAGCC	0.627													18	31					0	0	0	0	A	77170749	T	A	77170749	3	1	328	1	0	0	0	0	1	0	0	0	10431	1664	58	5	572	5	NFATC1	18	77170749	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	36740	77170749	906499	2190	60404											
THEG	51298	broad.mit.edu	37	chr19	362332	362332	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggcttggccagggagatGatccgggggctggccaccac	6	7	17	11	1	0	2	0	1	0	1	1	3	1	2	4	6	0	2	4	6	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:362332G>A	ENST00000342640.4	-	8	1050	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	THEG_ENST00000346878.2_Silent_p.I312I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	336					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.I336I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCAGGGAGATGATCCGGGGGC	0.617													70	25					0	0	0	0	A	362332	G	A	362332	2	1	328	1	0	0	0	0	0	0	0	1	15951	1280	45	2		2	THEG	19	362332	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08		362332	58766651	2191	60405											
CDC34	997	broad.mit.edu	37	chr19	536323	536323	+	Missense_Mutation	SNP	C	C	A																															ctgccctcagagaggtggaaCcccacgcagaacgtcaggta																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:536323C>A	ENST00000215574.4	+	3	563	c.345C>A	c.(343-345)aaC>aaA	p.N115K		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	115					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGAGGTGGAACCCCACGCAGA	0.642													7	4					2.17888e-05	2.18805e-05	1	0	A	536323	C	A	536323	3	1	328	1	0	0	0	0	1	0	0	0	3096	506	18	4	355	4	CDC34	19	536323	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	173991	536323	58592660	2192	60406	684	3									
CDC34	997	broad.mit.edu	37	chr19	536324	536324	+	Missense_Mutation	SNP	C	C	T																															tgccctcagagaggtggaacCccacgcagaacgtcaggtaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:536324C>T	ENST00000215574.4	+	3	564	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	116					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GAGGTGGAACCCCACGCAGAA	0.642													7	4					0	0	0	0	T	536324	C	T	536324	3	4	328	1	0	0	0	0	1	0	0	0	3096	623	22	4	356	4	CDC34	19	536324	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	536324	58592659	2193	60407	684	3									
CDC34	997	broad.mit.edu	37	chr19	536325	536325	+	Missense_Mutation	SNP	C	C	T																															gccctcagagaggtggaaccCcacgcagaacgtcaggtaag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:536325C>T	ENST00000215574.4	+	3	565	c.347C>T	c.(346-348)cCc>cTc	p.P116L		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	116					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGGTGGAACCCCACGCAGAAC	0.642													7	4					0	0	0	0	T	536325	C	T	536325	3	4	328	1	0	0	0	0	1	0	0	0	3096	623	22	4	357	4	CDC34	19	536325	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	536325	58592658	2194	60408	684	3									
PTBP1	5725	broad.mit.edu	37	chr19	803562	803562	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcccttctcttgcagcGgggatctgacgagcttttct	4	15	11	11	2	3	1	0	1	3	0	5	3	4	2	1	2	3	3	1	2	0	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:803562G>A	ENST00000356948.6	+	3	464	c.39_splice	c.e3-1	p.R14_splice	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Splice_Site_p.R14_splice|PTBP1_ENST00000349038.4_Splice_Site_p.R14_splice	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	14					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTCTTGCAGCGGGGATCTGAC	0.632													29	18					0	0	0	0	A	803562	G	A	803562	5	1	328	1	0	0	0	0	0	0	1	0	12804	1130	39	1	51	1	PTBP1	19	803562	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	267237	803562	58325421	2195	60409											
ABCA7	10347	broad.mit.edu	37	chr19	1047651	1047651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacctggaagctgtgtgccCaggtgggccgtagggggcgg	5	7	20	9	2	0	0	0	0	0	0	0	1	0	1	3	6	3	3	3	6	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:1047651C>T	ENST00000263094.6	+	16	2498	c.2267C>T	c.(2266-2268)cCa>cTa	p.P756L	ABCA7_ENST00000435683.2_Missense_Mutation_p.P618L|ABCA7_ENST00000433129.1_Missense_Mutation_p.P756L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	756					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GCTGTGTGCCCAGGTGGGCCG	0.711													6	4					0	0	0	0	T	1047651	C	T	1047651	3	4	328	1	0	0	0	0	1	0	0	0	37	594	21	4	2325	4	ABCA7	19	1047651	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	244089	1047651	58081332	2196	60410											
MUM1	84939	broad.mit.edu	37	chr19	1360624	1360624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgaatggatcttccctttCagaggacgacacggagagag	11	8	12	10	2	2	3	1	1	1	2	3	8	3	6	2	3	0	0	2	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:1360624C>T	ENST00000311401.5	+	5	886	c.500C>T	c.(499-501)tCa>tTa	p.S167L	MUM1_ENST00000591806.1_Missense_Mutation_p.S236L|MUM1_ENST00000344663.3_Missense_Mutation_p.S236L|MUM1_ENST00000415183.3_Missense_Mutation_p.S236L			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	235					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|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)		TCTTCCCTTTCAGAGGACGAC	0.577													34	19					0	0	0	0	T	1360624	C	T	1360624	3	4	328	1	0	0	0	0	1	0	0	0	10055	838	29	2	721	2	MUM1	19	1360624	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	312973	1360624	57768359	2197	60411											
DOT1L	84444	broad.mit.edu	37	chr19	2216629	2216629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctagccacgtcggccggcCgcgcctggagaagctgtctg	5	6	14	16	5	1	1	0	0	1	1	2	2	1	1	5	3	2	1	5	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:2216629C>T	ENST00000398665.3	+	20	2309	c.2273C>T	c.(2272-2274)cCg>cTg	p.P758L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	758						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GTCGGCCGGCCGCGCCTGGAG	0.677													27	21					0	0	0	0	T	2216629	C	T	2216629	3	4	328	1	0	0	0	0	1	0	0	0	4745	652	23	1	2351	1	DOT1L	19	2216629	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	856005	2216629	56912354	2198	60412											
TMPRSS9	360200	broad.mit.edu	37	chr19	2405440	2405440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcatggaagcatccccggggGagtttccgtggcaagccagc	8	6	15	12	2	0	0	0	0	0	0	2	2	2	2	4	4	3	4	4	4	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:2405440G>A	ENST00000332578.3	+	6	637	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	213	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		ATCCCCGGGGGAGTTTCCGTG	0.627													37	22					0	0	0	0	A	2405440	G	A	2405440	3	1	328	1	0	0	0	0	1	0	0	0	16347	1175	41	2	659	2	TMPRSS9	19	2405440	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	188811	2405440	56723543	2199	60413											
NFIC	4782	broad.mit.edu	37	chr19	3453854	3453854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgccacggctggcgctcCcccctgccaccaaacccgcc	5	4	10	22	3	0	0	0	0	0	0	1	0	1	0	8	3	3	3	8	3	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3453854C>T	ENST00000589123.1	+	9	1456	c.1336C>T	c.(1336-1338)Ccc>Tcc	p.P446S	NFIC_ENST00000590282.1_Intron|NFIC_ENST00000586919.1_Intron|NFIC_ENST00000443272.2_Missense_Mutation_p.P455S|NFIC_ENST00000395111.3_Intron|NFIC_ENST00000346156.5_Intron|NFIC_ENST00000341919.3_Intron	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	455					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GCTGGCGCTCCCCCCTGCCAC	0.677													3	2					0	0	0	0	T	3453854	C	T	3453854	3	4	328	1	0	0	0	0	1	0	0	0	10442	623	22	4	1404	4	NFIC	19	3453854	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1048414	3453854	55675129	2200	60414											
TJP3	27134	broad.mit.edu	37	chr19	3740700	3740700	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcagcggagccgtgaggaCctctcagctctgacccgaca	9	6	11	15	3	3	2	2	2	2	0	4	5	3	4	3	2	3	1	3	2	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3740700C>T	ENST00000541714.2	+	14	2244	c.1782C>T	c.(1780-1782)gaC>gaT	p.D594D	TJP3_ENST00000587686.1_Silent_p.D613D|TJP3_ENST00000589378.1_Silent_p.D603D|TJP3_ENST00000382008.3_Silent_p.D608D|TJP3_ENST00000262968.9_Silent_p.D627D|TJP3_ENST00000539908.2_Silent_p.D558D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	608	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGTGAGGACCTCTCAGCTC	0.701													6	4					0	0	0	0	T	3740700	C	T	3740700	2	4	328	1	0	0	0	0	0	0	0	1	16025	506	18	4		4	TJP3	19	3740700	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	286846	3740700	55388283	2201	60415											
ATCAY	85300	broad.mit.edu	37	chr19	3908331	3908331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccttccagacagcagcCtccccgactaccactacatc	9	8	5	19	1	0	1	0	0	0	1	4	2	3	1	6	0	4	2	6	0	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3908331C>T	ENST00000450849.2	+	6	1077	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F	ATCAY_ENST00000301260.6_Missense_Mutation_p.L204F|ATCAY_ENST00000600960.1_Missense_Mutation_p.L204F|ATCAY_ENST00000398448.3_Missense_Mutation_p.L210F	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	204	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AGACAGCAGCCTCCCCGACTA	0.642													6	2					0	0	0	0	T	3908331	C	T	3908331	3	4	328	1	0	0	0	0	1	0	0	0	1081	681	24	4	628	4	ATCAY	19	3908331	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	167631	3908331	55220652	2202	60416											
DAPK3	1613	broad.mit.edu	37	chr19	3964740	3964740	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcgactccttctccgccagGaagtcaaagagctccccgcc	9	6	9	17	3	2	1	1	0	1	1	5	3	4	2	6	1	2	1	6	1	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3964740G>A	ENST00000545797.2	-	3	555	c.312C>T	c.(310-312)ttC>ttT	p.F104F	DAPK3_ENST00000301264.3_Silent_p.F104F			O43293	DAPK3_HUMAN	death-associated protein kinase 3	104	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCGCCAGGAAGTCAAAGA	0.597													38	19					0	0	0	0	A	3964740	G	A	3964740	2	1	328	1	0	0	0	0	0	0	0	1	4270	1165	41	2		2	DAPK3	19	3964740	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	56409	3964740	55164243	2203	60417											
EEF2	1938	broad.mit.edu	37	chr19	3982015	3982015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccttcggggctggtggctGacttgctgaacttgccgttg	3	13	14	11	2	0	2	0	2	0	0	2	2	1	2	2	4	3	4	2	4	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3982015G>A	ENST00000309311.6	-	6	915	c.827C>T	c.(826-828)tCa>tTa	p.S276L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	276						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGTGGCTGACTTGCTGAA	0.612													49	24					0	0	0	0	A	3982015	G	A	3982015	3	1	328	1	0	0	0	0	1	0	0	0	4965	1294	45	2	1789	2	EEF2	19	3982015	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	17275	3982015	55146968	2204	60418											
DPP9	91039	broad.mit.edu	37	chr19	4702711	4702711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acccgcagacttggggtcatCcaggacattggataaaccta	12	8	10	11	1	1	1	1	0	0	1	2	3	2	3	3	4	1	1	3	4	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:4702711C>T	ENST00000262960.9	-	8	1064	c.787G>A	c.(787-789)Gat>Aat	p.D263N	DPP9_ENST00000594671.1_Missense_Mutation_p.D234N|DPP9_ENST00000598800.1_Missense_Mutation_p.D234N|DPP9_ENST00000597849.1_Missense_Mutation_p.D263N	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	234					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TTGGGGTCATCCAGGACATTG	0.592													10	1					0	0	0	0	T	4702711	C	T	4702711	3	4	328	1	0	0	0	0	1	0	0	0	4769	855	30	2	1951	2	DPP9	19	4702711	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	720696	4702711	54426272	2205	60419											
PTPRS	5802	broad.mit.edu	37	chr19	5238951	5238951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactgcagcgtgcgctgccGcaccacgggggtgaaggcgc	6	4	18	13	5	0	1	0	1	0	0	0	2	0	2	2	4	4	3	2	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:5238951G>A	ENST00000372412.4	-	13	2064	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	PTPRS_ENST00000353284.2_Missense_Mutation_p.R597W|PTPRS_ENST00000592099.1_Missense_Mutation_p.R597W|PTPRS_ENST00000588012.1_Missense_Mutation_p.R597W|PTPRS_ENST00000587303.1_Missense_Mutation_p.R610W|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.R606W|PTPRS_ENST00000348075.2_Missense_Mutation_p.R597W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R610W			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	610	Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTGCGCTGCCGCACCACGGGG	0.721													19	17					0	0	0	0	A	5238951	G	A	5238951	3	1	328	1	0	0	0	0	1	0	0	0	12893	1086	38	1	4122	1	PTPRS	19	5238951	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	536240	5238951	53890032	2206	60420											
CLEC4G	339390	broad.mit.edu	37	chr19	7795971	7795971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcgccgccgtctgcttcGaggctggaacgacccccgcc	5	5	12	19	6	1	0	0	0	1	0	2	3	1	1	6	2	3	2	6	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:7795971G>A	ENST00000328853.5	-	4	292	c.224C>T	c.(223-225)tCg>tTg	p.S75L	CLEC4G_ENST00000598081.1_5'UTR	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	75						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CGTCTGCTTCGAGGCTGGAAC	0.697													10	5					0	0	0	0	A	7795971	G	A	7795971	3	1	328	1	0	0	0	0	1	0	0	0	3547	1059	37	1	681	1	CLEC4G	19	7795971	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2557020	7795971	51333012	2207	60421											
TIMM44	10469	broad.mit.edu	37	chr19	7998826	7998826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccggagtcgctggggcctCcggtagggcccggtctgtcc	2	9	16	14	4	1	0	0	0	1	0	5	1	4	1	5	6	0	2	5	6	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:7998826C>T	ENST00000270538.3	-	6	874	c.606G>A	c.(604-606)cgG>cgA	p.R202R		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	202					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GCTGGGGCCTCCGGTAGGGCC	0.622													26	15					0	0	0	0	T	7998826	C	T	7998826	2	4	328	1	0	0	0	0	0	0	0	1	16006	842	30	2		2	TIMM44	19	7998826	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	202855	7998826	51130157	2208	60422											
FBN3	84467	broad.mit.edu	37	chr19	8188845	8188845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccaggcagggtgacccCacactcatcctcatcccatc	8	8	7	18	0	2	1	2	1	0	0	5	1	4	1	5	2	1	1	5	2	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:8188845C>T	ENST00000600128.1	-	23	3193	c.2779G>A	c.(2779-2781)Ggg>Agg	p.G927R	FBN3_ENST00000601739.1_Missense_Mutation_p.G927R|FBN3_ENST00000270509.2_Missense_Mutation_p.G927R			Q75N90	FBN3_HUMAN	fibrillin 3	927	TB 5.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGTGACCCCACACTCATCC	0.637													16	9					0	0	0	0	T	8188845	C	T	8188845	3	4	328	1	0	0	0	0	1	0	0	0	5749	594	21	4	5818	4	FBN3	19	8188845	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	190019	8188845	50940138	2209	60423											
MUC16	94025	broad.mit.edu	37	chr19	9062672	9062672	+	Silent	SNP	G	G	A																															gagctggtttcttccacagaGgattgactaggccataacat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9062672G>A	ENST00000397910.4	-	3	24977	c.24774C>T	c.(24772-24774)tcC>tcT	p.S8258S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8260	Ser-rich.|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						CTTCCACAGAGGATTGACTAG	0.507													16	13					0	0	0	0	A	9062672	G	A	9062672	2	1	328	1	0	0	0	0	0	0	0	1	10043	987	35	4		4	MUC16	19	9062672	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	873827	9062672	50066311	2210	60424	685	2									
MUC16	94025	broad.mit.edu	37	chr19	9062673	9062673	+	Missense_Mutation	SNP	G	G	A																															agctggtttcttccacagagGattgactaggccataacata																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9062673G>A	ENST00000397910.4	-	3	24976	c.24773C>T	c.(24772-24774)tCc>tTc	p.S8258F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8260	Ser-rich.|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						TTCCACAGAGGATTGACTAGG	0.502													16	13					0	0	0	0	A	9062673	G	A	9062673	3	1	328	1	0	0	0	0	1	0	0	0	10043	1174	41	2	19078	2	MUC16	19	9062673	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	9062673	50066310	2211	60425	685	2									
MUC16	94025	broad.mit.edu	37	chr19	9063304	9063304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagaaggatgagttttctCtgtatctgtggtgacttcag	9	15	12	5	0	3	4	1	3	2	1	4	5	3	5	0	2	0	2	0	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9063304C>T	ENST00000397910.4	-	3	24345	c.24142G>A	c.(24142-24144)Gag>Aag	p.E8048K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8050	Ser-rich.|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						TGAGTTTTCTCTGTATCTGTG	0.463													26	23					0	0	0	0	T	9063304	C	T	9063304	3	4	328	1	0	0	0	0	1	0	0	0	10043	922	32	2	19709	2	MUC16	19	9063304	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	631	9063304	50065679	2212	60426											
MUC16	94025	broad.mit.edu	37	chr19	9089073	9089073	+	Silent	SNP	G	G	A																															ctgagctcactcactaggtgGgatgaagagaactgagctga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9089073G>A	ENST00000397910.4	-	1	2945	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	914	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						TCACTAGGTGGGATGAAGAGA	0.517													10	1					0	0	0	0	A	9089073	G	A	9089073	2	1	328	1	0	0	0	0	0	0	0	1	10043	1219	43	4		4	MUC16	19	9089073	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	25769	9089073	50039910	2213	60427	686	2									
MUC16	94025	broad.mit.edu	37	chr19	9089074	9089074	+	Missense_Mutation	SNP	G	G	A																															tgagctcactcactaggtggGatgaagagaactgagctgaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9089074G>A	ENST00000397910.4	-	1	2944	c.2741C>T	c.(2740-2742)tCc>tTc	p.S914F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	914	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						CACTAGGTGGGATGAAGAGAA	0.522													10	1					0	0	0	0	A	9089074	G	A	9089074	3	1	328	1	0	0	0	0	1	0	0	0	10043	1174	41	2	41118	2	MUC16	19	9089074	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	9089074	50039909	2214	60428	686	2									
ZNF317	57693	broad.mit.edu	37	chr19	9271436	9271436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgcggcaaagccttccGctggaagtccaactttaatt	10	10	10	11	2	0	0	0	0	0	0	2	1	2	1	3	2	3	3	3	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9271436G>A	ENST00000247956.6	+	7	1420	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	ZNF317_ENST00000360385.3_Missense_Mutation_p.R340H	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AAAGCCTTCCGCTGGAAGTCC	0.542													16	9					0	0	0	0	A	9271436	G	A	9271436	3	1	328	1	0	0	0	0	1	0	0	0	17930	1087	38	1	1137	1	ZNF317	19	9271436	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	182362	9271436	49857547	2215	60429											
ZNF266	10781	broad.mit.edu	37	chr19	9525075	9525075	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttctccattgtgagttcTtaaatgtccctgaaggtgtg	8	16	9	8	0	2	2	0	2	2	0	4	2	3	2	2	1	0	1	2	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9525075T>A	ENST00000592904.1	-	5	2602	c.526A>T	c.(526-528)Aga>Tga	p.R176*	ZNF266_ENST00000588933.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000588221.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000361451.2_Nonsense_Mutation_p.R176*|ZNF266_ENST00000361151.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000590306.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000592292.1_Nonsense_Mutation_p.R176*			Q14584	ZN266_HUMAN	zinc finger protein 266	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTGTGAGTTCTTAAATGTCCC	0.438													35	11					0	0	0	0	A	9525075	T	A	9525075	4	1	328	1	0	0	0	0	0	1	0	0	17900	1617	56	5	1127	5	ZNF266	19	9525075	Nonsense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	253639	9525075	49603908	2216	60430											
SMARCA4	6597	broad.mit.edu	37	chr19	11152077	11152077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agacagcgacgccggctcctCcaccccgaccaccagcaccc	9	2	8	22	4	0	1	0	0	0	1	2	3	2	1	8	1	2	2	8	1	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:11152077C>T	ENST00000358026.2	+	31	4645	c.4361C>T	c.(4360-4362)tCc>tTc	p.S1454F	SMARCA4_ENST00000429416.3_Missense_Mutation_p.S1422F|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1389F|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1389F|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1422F|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1392F|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1392F|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1392F|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1392F	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1422					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCGGCTCCTCCACCCCGACC	0.647			"F, N, Mis"		NSCLC								19	11					0	0	0	0	T	11152077	C	T	11152077	3	4	328	1	0	0	0	0	1	0	0	0	14858	855	30	2	4488	2	SMARCA4	19	11152077	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1627002	11152077	47976906	2217	60431											
DOCK6	57572	broad.mit.edu	37	chr19	11332856	11332856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctaggaagtgctgctgccgGaatggtccactcagttcgaa	9	9	13	10	2	1	0	1	0	0	0	3	3	2	2	2	3	3	4	2	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:11332856G>A	ENST00000294618.7	-	27	3320	c.3309C>T	c.(3307-3309)ttC>ttT	p.F1103F	DOCK6_ENST00000319867.7_Silent_p.F442F	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1103					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCTGCTGCCGGAATGGTCCAC	0.622													8	6					0	0	0	0	A	11332856	G	A	11332856	2	1	328	1	0	0	0	0	0	0	0	1	4727	1165	41	2		2	DOCK6	19	11332856	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	180779	11332856	47796127	2218	60432											
LPPR2	64748	broad.mit.edu	37	chr19	11470547	11470547	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgcaccaccttcagcCgtcccagtcatcggggagag	7	8	10	16	2	2	1	2	0	0	1	5	2	4	1	5	2	2	1	5	2	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:11470547C>T	ENST00000251473.5	+	5	682	c.306C>T	c.(304-306)gcC>gcT	p.A102A	DKFZP761J1410_ENST00000591608.1_Silent_p.A77A	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CACCTTCAGCCGTCCCAGTCA	0.647													21	10					0	0	0	0	T	11470547	C	T	11470547	2	4	328	1	0	0	0	0	0	0	0	1	8989	639	23	1		1	LPPR2	19	11470547	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	137691	11470547	47658436	2219	60433											
EPOR	2057	broad.mit.edu	37	chr19	11489349	11489349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaagcccaggcactgagggGacaaccaggccacctacctg	11	3	13	14	0	0	1	0	1	0	0	0	3	0	3	5	5	3	1	5	5	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:11489349G>A	ENST00000592375.2	-	7	1037	c.933C>T	c.(931-933)gtC>gtT	p.V311V	EPOR_ENST00000222139.6_Intron			P19235	EPOR_HUMAN	erythropoietin receptor	0						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCACTGAGGGGACAACCAGGC	0.567													27	20					0	0	0	0	A	11489349	G	A	11489349	2	1	328	1	0	0	0	0	0	0	0	1	5227	1189	41	2		2	EPOR	19	11489349	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	18802	11489349	47639634	2220	60434											
ZNF439	90594	broad.mit.edu	37	chr19	11978939	11978939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaatgcactctggagaaaGaccttatgaatgtaagacat	17	9	9	6	0	1	5	0	1	1	4	1	6	1	5	1	1	1	2	1	1	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:11978939G>A	ENST00000304030.2	+	3	1255	c.1055G>A	c.(1054-1056)aGa>aAa	p.R352K	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.R216K	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TCTGGAGAAAGACCTTATGAA	0.373													6	59					0	0	0	0	A	11978939	G	A	11978939	3	1	328	1	0	0	0	0	1	0	0	0	18006	942	33	2	1065	2	ZNF439	19	11978939	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	489590	11978939	47150044	2221	60435											
ZNF433	163059	broad.mit.edu	37	chr19	12125812	12125812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacatccaaaagctttccCacattgcttacatttatacg	12	12	6	11	1	0	0	0	0	0	0	2	1	2	1	2	1	4	2	2	1	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12125812C>T	ENST00000419886.2	-	5	2056	c.1765G>A	c.(1765-1767)Ggg>Agg	p.G589R	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.G624R|CTD-2006C1.2_ENST00000495324.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AAAGCTTTCCCACATTGCTTA	0.438													26	37					0	0	0	0	T	12125812	C	T	12125812	3	4	328	1	0	0	0	0	1	0	0	0	18002	594	21	4	155	4	ZNF433	19	12125812	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	146873	12125812	47003171	2222	60436											
ZNF878	729747	broad.mit.edu	37	chr19	12155188	12155188	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgaaggctttcacacatTttttacattcataaggtttc	12	16	5	8	0	2	1	2	1	0	0	3	1	2	1	0	2	2	2	0	2	4	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12155188T>A	ENST00000602107.1	-	5	1168	c.1169A>T	c.(1168-1170)aAa>aTa	p.K390I	ZNF878_ENST00000547628.1_Missense_Mutation_p.K343I|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron			C9JN71	ZN878_HUMAN	zinc finger protein 878	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TTTCACACATTTTTTACATTC	0.388													21	43					0	0	0	0	A	12155188	T	A	12155188	3	1	328	1	0	0	0	0	1	0	0	0	18289	1841	64	5	571	5	ZNF878	19	12155188	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	29376	12155188	46973795	2223	60437											
TNPO2	30000	broad.mit.edu	37	chr19	12817449	12817449	+	Silent	SNP	G	G	A																															ttgagcagctctgtcatcagGggcttgaggtgcatgtcggg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12817449G>A	ENST00000425528.1	-	14	1788	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	TNPO2_ENST00000441499.1_Silent_p.P477P|TNPO2_ENST00000588216.1_Silent_p.P477P|TNPO2_ENST00000592287.1_Silent_p.P477P|TNPO2_ENST00000356861.5_Silent_p.P477P|TNPO2_ENST00000450764.2_Silent_p.P477P			O14787	TNPO2_HUMAN	transportin 2	477					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTCATCAGGGGCTTGAGGT	0.632													14	25					0	0	0	0	A	12817449	G	A	12817449	2	1	328	1	0	0	0	0	0	0	0	1	16430	1219	43	4		4	TNPO2	19	12817449	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	662261	12817449	46311534	2224	60438	687	2									
TNPO2	30000	broad.mit.edu	37	chr19	12817450	12817450	+	Missense_Mutation	SNP	G	G	A																															tgagcagctctgtcatcaggGgcttgaggtgcatgtcgggt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12817450G>A	ENST00000425528.1	-	14	1787	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	TNPO2_ENST00000441499.1_Missense_Mutation_p.P477L|TNPO2_ENST00000588216.1_Missense_Mutation_p.P477L|TNPO2_ENST00000592287.1_Missense_Mutation_p.P477L|TNPO2_ENST00000356861.5_Missense_Mutation_p.P477L|TNPO2_ENST00000450764.2_Missense_Mutation_p.P477L			O14787	TNPO2_HUMAN	transportin 2	477					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGTCATCAGGGGCTTGAGGTG	0.632													15	25					0	0	0	0	A	12817450	G	A	12817450	3	1	328	1	0	0	0	0	1	0	0	0	16430	1232	43	4	1311	4	TNPO2	19	12817450	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	12817450	46311533	2225	60439	687	2									
TNPO2	30000	broad.mit.edu	37	chr19	12829917	12829917	+	Frame_Shift_Del	DEL	G	G	-																															gtttgatgaagtctgccacaGggggtgggaagctctgatag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12829917delG	ENST00000425528.1	-	5	608	c.251delC	c.(250-252)ctfs	p.P84fs	TNPO2_ENST00000450764.2_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000588216.1_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000356861.5_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000441499.1_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000592287.1_Frame_Shift_Del_p.P84fs			O14787	TNPO2_HUMAN	transportin 2	84	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCTGCCACAGGGGGTGGGAA	0.577													53	82	---	---	---	---					-	12829917	G	-	12829917	7	5	328	1	0	1	0	1	0	0	0	0	16430	1000	35	0	2526	0	TNPO2	19	12829917	Frame_Shift_Del	DEL	G	TCGA-CV-7568-01A-11D-2229-08	12467	12829917	46299066	2226	60440											
MAST1	22983	broad.mit.edu	37	chr19	12962939	12962939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcctcaggaattcaaccCcgaggagttctaccacctgc	9	8	8	16	1	3	0	2	0	1	0	3	3	3	2	6	2	4	1	6	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12962939C>T	ENST00000251472.4	+	9	926	c.887C>T	c.(886-888)cCc>cTc	p.P296L	MAST1_ENST00000591495.1_Missense_Mutation_p.P292L	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	296					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GAATTCAACCCCGAGGAGTTC	0.652													34	71					0	0	0	0	T	12962939	C	T	12962939	3	4	328	1	0	0	0	0	1	0	0	0	9393	623	22	4	921	4	MAST1	19	12962939	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	133022	12962939	46166044	2227	60441											
MAST1	22983	broad.mit.edu	37	chr19	12979965	12979965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacgggactcctcaccCagccgggactactcaccagc	8	6	8	19	2	3	0	3	0	0	0	5	2	5	2	5	2	3	0	5	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12979965C>T	ENST00000251472.4	+	22	2898	c.2859C>T	c.(2857-2859)ccC>ccT	p.P953P		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	953					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACTCCTCACCCAGCCGGGACT	0.592													25	50					0	0	0	0	T	12979965	C	T	12979965	2	4	328	1	0	0	0	0	0	0	0	1	9393	581	21	4		4	MAST1	19	12979965	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	17026	12979965	46149018	2228	60442											
DNASE2	1777	broad.mit.edu	37	chr19	12989535	12989535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagagcagggtctgccCgtaggtacaggcgctatgag	10	6	14	11	2	1	2	0	1	1	1	1	2	1	2	1	3	3	4	1	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12989535C>T	ENST00000222219.3	-	4	552	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	DNASE2_ENST00000538460.1_Intron	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	154					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGGGTCTGCCCGTAGGTACAG	0.567													7	11					0	0	0	0	T	12989535	C	T	12989535	3	4	328	1	0	0	0	0	1	0	0	0	4700	652	23	1	634	1	DNASE2	19	12989535	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	9570	12989535	46139448	2229	60443											
C19orf57	79173	broad.mit.edu	37	chr19	14000435	14000435	+	Silent	SNP	G	G	A																															ggaggctgtagggcccactaGgacatcgccggggggcttgc																								rs149789464		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14000435G>A	ENST00000454313.1	-	6	1292	c.1234C>T	c.(1234-1236)Cta>Tta	p.L412L	C19orf57_ENST00000586783.1_Silent_p.L412L|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.L412L			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	412					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGGCCCACTAGGACATCGCCG	0.652													19	39					0	0	0	0	A	14000435	G	A	14000435	2	1	328	1	0	0	0	0	0	0	0	1	1957	991	35	4		4	C19orf57	19	14000435	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1010900	14000435	45128548	2230	60444	688	2									
C19orf57	79173	broad.mit.edu	37	chr19	14000436	14000436	+	Silent	SNP	G	G	A																															gaggctgtagggcccactagGacatcgccggggggcttgcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14000436G>A	ENST00000454313.1	-	6	1291	c.1233C>T	c.(1231-1233)gtC>gtT	p.V411V	C19orf57_ENST00000586783.1_Silent_p.V411V|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.V411V			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	411					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCCACTAGGACATCGCCGG	0.652													19	38					0	0	0	0	A	14000436	G	A	14000436	2	1	328	1	0	0	0	0	0	0	0	1	1957	1161	41	2		2	C19orf57	19	14000436	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	14000436	45128547	2231	60445	688	2									
C19orf57	79173	broad.mit.edu	37	chr19	14000492	14000492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccactttctcctgtggtttCcccagtgagcgaggtgcagc	5	11	11	14	1	1	1	0	1	1	0	3	2	2	1	4	2	3	2	4	2	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14000492C>T	ENST00000454313.1	-	6	1235	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	C19orf57_ENST00000586783.1_Missense_Mutation_p.E393K|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.E393K			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	393					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTGTGGTTTCCCCAGTGAGC	0.672													13	19					0	0	0	0	T	14000492	C	T	14000492	3	4	328	1	0	0	0	0	1	0	0	0	1957	864	30	2	748	2	C19orf57	19	14000492	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	56	14000492	45128491	2232	60446											
C19orf57	79173	broad.mit.edu	37	chr19	14000669	14000669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgatgacaaccatcccgaGggaggagcatcccaggctgc	10	5	13	13	2	0	1	0	1	0	0	2	5	2	3	3	3	4	2	3	3	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14000669G>A	ENST00000454313.1	-	6	1058	c.1000C>T	c.(1000-1002)Ctc>Ttc	p.L334F	C19orf57_ENST00000586783.1_Missense_Mutation_p.L334F|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.L334F			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	334					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACCATCCCGAGGGAGGAGCAT	0.657													17	35					0	0	0	0	A	14000669	G	A	14000669	3	1	328	1	0	0	0	0	1	0	0	0	1957	1000	35	4	925	4	C19orf57	19	14000669	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	177	14000669	45128314	2233	60447											
CC2D1A	54862	broad.mit.edu	37	chr19	14031425	14031425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccccaccctcaagaactcCccagtcgggatcagccccaa	11	4	7	19	1	2	1	2	0	0	1	4	2	3	2	7	1	3	0	7	1	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14031425C>T	ENST00000318003.7	+	13	1653	c.1412C>T	c.(1411-1413)cCc>cTc	p.P471L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P471L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	471					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TCAAGAACTCCCCAGTCGGGA	0.622													8	12					0	0	0	0	T	14031425	C	T	14031425	3	4	328	1	0	0	0	0	1	0	0	0	2751	623	22	4	1462	4	CC2D1A	19	14031425	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	30756	14031425	45097558	2234	60448											
RFX1	5989	broad.mit.edu	37	chr19	14079442	14079442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccgtgctcggctgctgcCccaccgccacgccgttggtc	2	7	12	20	5	0	0	0	0	0	0	2	0	0	0	7	2	3	4	7	2	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14079442C>T	ENST00000254325.4	-	12	1901	c.1667G>A	c.(1666-1668)gGg>gAg	p.G556E		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	556					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGCTGCTGCCCCACCGCCAC	0.662													36	64					0	0	0	0	T	14079442	C	T	14079442	3	4	328	1	0	0	0	0	1	0	0	0	13344	623	22	4	1312	4	RFX1	19	14079442	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	48017	14079442	45049541	2235	60449											
CD97	976	broad.mit.edu	37	chr19	14513433	14513433	+	Missense_Mutation	SNP	C	C	T																															cgccgtggcgggcatcctctCcatccagaacatgacgacat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14513433C>T	ENST00000242786.5	+	12	1288	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	CD97_ENST00000357355.3_Missense_Mutation_p.S354F|CD97_ENST00000358600.3_Missense_Mutation_p.S310F	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	403					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCATCCTCTCCATCCAGAAC	0.572													41	69					0	0	0	0	T	14513433	C	T	14513433	3	4	328	1	0	0	0	0	1	0	0	0	3078	855	30	2	1254	2	CD97	19	14513433	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	433991	14513433	44615550	2236	60450	689	2									
CD97	976	broad.mit.edu	37	chr19	14513434	14513434	+	Silent	SNP	C	C	T																															gccgtggcgggcatcctctcCatccagaacatgacgacatt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14513434C>T	ENST00000242786.5	+	12	1289	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	CD97_ENST00000357355.3_Silent_p.S354S|CD97_ENST00000358600.3_Silent_p.S310S	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	403					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCATCCTCTCCATCCAGAACA	0.577													42	69					0	0	0	0	T	14513434	C	T	14513434	2	4	328	1	0	0	0	0	0	0	0	1	3078	581	21	4		4	CD97	19	14513434	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	14513434	44615549	2237	60451	689	2									
ZNF333	84449	broad.mit.edu	37	chr19	14829728	14829728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcacaagaggatacacacagGggagaaactgtatgagtgcg	15	5	14	7	1	0	3	0	1	0	2	0	5	0	4	0	3	3	2	0	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14829728G>A	ENST00000292530.6	+	12	1680	c.1589G>A	c.(1588-1590)gGg>gAg	p.G530E	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.G421E	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						ATACACACAGGGGAGAAACTG	0.522													16	46					0	0	0	0	A	14829728	G	A	14829728	3	1	328	1	0	0	0	0	1	0	0	0	17945	1232	43	4	1631	4	ZNF333	19	14829728	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	316294	14829728	44299255	2238	60452											
CCDC105	126402	broad.mit.edu	37	chr19	15124552	15124552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcatgaagaggaaaatGgagagagatatggaaaaatc	22	5	12	2	0	0	4	0	1	0	3	1	8	0	6	0	3	1	1	0	3	8	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15124552G>A	ENST00000292574.3	+	2	721	c.639G>A	c.(637-639)atG>atA	p.M213I		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	213					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AGAGGAAAATGGAGAGAGATA	0.498													8	20					0	0	0	0	A	15124552	G	A	15124552	3	1	328	1	0	0	0	0	1	0	0	0	2765	1348	47	4	645	4	CCDC105	19	15124552	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	294824	15124552	44004431	2239	60453											
CASP14	23581	broad.mit.edu	37	chr19	15164409	15164409	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtttcggcagctgagattCgaaagcaccatgaaaagaga	15	8	11	7	2	0	3	0	2	0	2	2	6	0	3	1	1	2	4	1	1	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15164409C>T	ENST00000427043.3	+	3	452	c.144C>T	c.(142-144)ttC>ttT	p.F48F	CASP14_ENST00000221740.1_Silent_p.F48F	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	48					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						AGCTGAGATTCGAAAGCACCA	0.557													50	54					0	0	0	0	T	15164409	C	T	15164409	2	4	328	1	0	0	0	0	0	0	0	1	2695	883	31	1		1	CASP14	19	15164409	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	39857	15164409	43964574	2240	60454											
ILVBL	10994	broad.mit.edu	37	chr19	15230043	15230043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccggatgtggagggggtGgttgcggcctaacagccccc	5	7	16	13	2	0	0	0	0	0	0	1	2	1	2	4	6	3	1	4	6	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15230043G>A	ENST00000263383.3	-	9	1124	c.985C>T	c.(985-987)Cac>Tac	p.H329Y	ILVBL_ENST00000534378.1_Missense_Mutation_p.H222Y	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	329						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TGGAGGGGGTGGTTGCGGCCT	0.642													35	67					0	0	0	0	A	15230043	G	A	15230043	3	1	328	1	0	0	0	0	1	0	0	0	7768	1348	47	4	945	4	ILVBL	19	15230043	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	65634	15230043	43898940	2241	60455											
BRD4	23476	broad.mit.edu	37	chr19	15374332	15374332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaccaaactcctgagcatCacggtactcacgggcctcca	11	6	8	16	2	2	1	2	1	0	0	4	1	4	1	4	2	4	3	4	2	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15374332C>T	ENST00000263377.2	-	7	1461	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	BRD4_ENST00000360016.5_Missense_Mutation_p.D414N|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Missense_Mutation_p.D414N	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	414	Bromo 2.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCCTGAGCATCACGGTACTCA	0.542			T	C15orf55	lethal midline carcinoma of young people								22	34					0	0	0	0	T	15374332	C	T	15374332	3	4	328	1	0	0	0	0	1	0	0	0	1512	826	29	2	2919	2	BRD4	19	15374332	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	144289	15374332	43754651	2242	60456											
WIZ	58525	broad.mit.edu	37	chr19	15535766	15535766	+	Silent	SNP	G	G	A																															ggtcacgccgaactgccgcaGgtgtgcccgtgcgtggctgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15535766G>A	ENST00000389282.4	-	8	4471	c.4258C>T	c.(4258-4260)Ctg>Ttg	p.L1420L	WIZ_ENST00000263381.6_Silent_p.L563L|WIZ_ENST00000599686.2_Silent_p.L604L|WIZ_ENST00000599910.1_Silent_p.L737L|WIZ_ENST00000545156.1_Silent_p.L734L			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1420						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						AACTGCCGCAGGTGTGCCCGT	0.672													7	6					0	0	0	0	A	15535766	G	A	15535766	2	1	328	1	0	0	0	0	0	0	0	1	17471	991	35	4		4	WIZ	19	15535766	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	161434	15535766	43593217	2243	60457	690	2									
WIZ	58525	broad.mit.edu	37	chr19	15535767	15535767	+	Silent	SNP	G	G	A																															gtcacgccgaactgccgcagGtgtgcccgtgcgtggctggc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15535767G>A	ENST00000389282.4	-	8	4470	c.4257C>T	c.(4255-4257)caC>caT	p.H1419H	WIZ_ENST00000263381.6_Silent_p.H562H|WIZ_ENST00000599686.2_Silent_p.H603H|WIZ_ENST00000599910.1_Silent_p.H736H|WIZ_ENST00000545156.1_Silent_p.H733H			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1419						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACTGCCGCAGGTGTGCCCGTG	0.667													7	6					0	0	0	0	A	15535767	G	A	15535767	2	1	328	1	0	0	0	0	0	0	0	1	17471	1252	44	4		4	WIZ	19	15535767	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	15535767	43593216	2244	60458	690	2									
CYP4F2	8529	broad.mit.edu	37	chr19	15990174	15990174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgggccctgccgagaagGgaataaaagccagaggtgac	13	4	14	10	1	0	3	0	1	0	2	0	5	0	4	4	3	2	0	4	3	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15990174G>A	ENST00000221700.5	-	12	1474	c.1379C>T	c.(1378-1380)cCc>cTc	p.P460L	CYP4F2_ENST00000592328.1_Missense_Mutation_p.P460L	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	460					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGCCGAGAAGGGAATAAAAGC	0.582													59	108					0	0	0	0	A	15990174	G	A	15990174	3	1	328	1	0	0	0	0	1	0	0	0	4220	1232	43	4	191	4	CYP4F2	19	15990174	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	454407	15990174	43138809	2245	60459											
CYP4F2	8529	broad.mit.edu	37	chr19	15997098	15997098	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcttatgtcctcatcagaTaacttcttcccgtcttcatc	7	16	4	14	1	6	1	3	0	3	1	9	1	8	1	2	0	1	1	2	0	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15997098T>A	ENST00000221700.5	-	8	1034	c.939A>T	c.(937-939)ttA>ttT	p.L313F	CYP4F2_ENST00000592328.1_Missense_Mutation_p.L313F|CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	313					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCTCATCAGATAACTTCTTCC	0.537													91	136					0	0	0	0	A	15997098	T	A	15997098	3	1	328	1	0	0	0	0	1	0	0	0	4220	1403	49	5	647	5	CYP4F2	19	15997098	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	6924	15997098	43131885	2246	60460											
NWD1	284434	broad.mit.edu	37	chr19	16890267	16890267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgatccacatgctaactGgacacacaggtgagacttgg	12	9	11	9	0	0	2	0	2	0	1	1	4	1	3	1	3	2	1	1	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:16890267G>A	ENST00000524140.2	+	12	3140	c.2722G>A	c.(2722-2724)Gga>Aga	p.G908R	NWD1_ENST00000552788.1_Missense_Mutation_p.G908R|NWD1_ENST00000549814.1_Missense_Mutation_p.G908R|NWD1_ENST00000523826.1_Missense_Mutation_p.G702R|NWD1_ENST00000379808.3_Missense_Mutation_p.G908R|NWD1_ENST00000339803.6_Missense_Mutation_p.G773R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	908							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATGCTAACTGGACACACAGG	0.527											OREG0025337	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	61					0	0	0	0	A	16890267	G	A	16890267	3	1	328	1	0	0	0	0	1	0	0	0	10852	1349	47	4	2347	4	NWD1	19	16890267	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	893169	16890267	42238716	2247	60461											
CPAMD8	27151	broad.mit.edu	37	chr19	17057950	17057950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgggctcagcctccccggGggccacacacatcttcttgg	6	8	12	15	1	3	0	1	0	2	0	4	1	4	0	4	4	1	1	4	4	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17057950G>A	ENST00000443236.1	-	21	2768	c.2737C>T	c.(2737-2739)Ccc>Tcc	p.P913S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	866						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCCTCCCCGGGGGCCACACAC	0.597													64	111					0	0	0	0	A	17057950	G	A	17057950	3	1	328	1	0	0	0	0	1	0	0	0	3825	1232	43	4	3149	4	CPAMD8	19	17057950	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	167683	17057950	42071033	2248	60462											
MYO9B	4650	broad.mit.edu	37	chr19	17291808	17291808	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggacccccgtagccttctCcagtccctcagtcggctcca	6	8	9	18	2	2	0	1	0	1	0	6	2	4	1	6	2	1	2	6	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17291808C>T	ENST00000595618.1	+	15	2444	c.2292C>T	c.(2290-2292)ctC>ctT	p.L764L	MYO9B_ENST00000397274.2_Silent_p.L764L|MYO9B_ENST00000594824.1_Silent_p.L764L	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	764	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTAGCCTTCTCCAGTCCCTCA	0.612													23	44					0	0	0	0	T	17291808	C	T	17291808	2	4	328	1	0	0	0	0	0	0	0	1	10155	842	30	2		2	MYO9B	19	17291808	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	233858	17291808	41837175	2249	60463											
ABHD8	79575	broad.mit.edu	37	chr19	17403623	17403623	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctcgtcgatgagcttcagGaatgccaggagcaggatctg	9	8	13	11	2	2	1	1	1	1	0	4	5	2	4	2	3	3	2	2	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17403623G>A	ENST00000247706.3	-	5	1406	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	MRPL34_ENST00000595444.1_Silent_p.R58R|MRPL34_ENST00000600434.1_5'UTR	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	389							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TGAGCTTCAGGAATGCCAGGA	0.622													10	15					0	0	0	0	A	17403623	G	A	17403623	2	1	328	1	0	0	0	0	0	0	0	1	87	1165	41	2		2	ABHD8	19	17403623	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	111815	17403623	41725360	2250	60464											
PLVAP	83483	broad.mit.edu	37	chr19	17476587	17476587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatctcaaacttgtccttGtccaggggcaggcagagggc	8	9	12	12	0	1	1	1	0	1	1	5	1	4	1	3	4	1	2	3	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17476587G>T	ENST00000252590.4	-	3	748	c.687C>A	c.(685-687)gaC>gaA	p.D229E		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	229						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTTGTCCTTGTCCAGGGGCA	0.577													41	55					1.04594e-18	1.06637e-18	1	0	T	17476587	G	T	17476587	3	4	328	1	0	0	0	0	1	0	0	0	12188	1368	48	4	657	4	PLVAP	19	17476587	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	72964	17476587	41652396	2251	60465											
SLC27A1	376497	broad.mit.edu	37	chr19	17597622	17597622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttcctggagggccggccgGagttcgtggggctgtggctg	2	10	19	10	3	1	0	0	0	1	0	3	2	2	2	3	7	0	3	3	7	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17597622G>A	ENST00000252595.7	+	2	515	c.418G>A	c.(418-420)Gag>Aag	p.E140K	SLC27A1_ENST00000442725.1_Missense_Mutation_p.E140K|SLC27A1_ENST00000598424.1_5'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	140					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGGCCGGCCGGAGTTCGTGGG	0.711													6	9					0	0	0	0	A	17597622	G	A	17597622	3	1	328	1	0	0	0	0	1	0	0	0	14613	1175	41	2	424	2	SLC27A1	19	17597622	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	121035	17597622	41531361	2252	60466											
SLC27A1	376497	broad.mit.edu	37	chr19	17611616	17611616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggagaacgtctccaccaccGaggtggagggcgtgctgagc	8	5	17	11	3	1	2	0	1	1	1	2	5	1	3	3	4	3	1	3	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17611616G>A	ENST00000252595.7	+	10	1664	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	SLC27A1_ENST00000442725.1_Missense_Mutation_p.E523K|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000598424.1_Missense_Mutation_p.E344K	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	523					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CTCCACCACCGAGGTGGAGGG	0.657													12	32					0	0	0	0	A	17611616	G	A	17611616	3	1	328	1	0	0	0	0	1	0	0	0	14613	1059	37	1	1605	1	SLC27A1	19	17611616	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	13994	17611616	41517367	2253	60467											
MAP1S	55201	broad.mit.edu	37	chr19	17838567	17838567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcggtcagcgagtccctgCccaccctgtctgactcggat	6	9	10	16	3	2	1	1	1	1	0	5	3	3	2	3	2	2	0	3	2	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17838567C>T	ENST00000324096.4	+	5	2525	c.2374C>T	c.(2374-2376)Ccc>Tcc	p.P792S	MAP1S_ENST00000544059.2_Missense_Mutation_p.P766S|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	792	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGAGTCCCTGCCCACCCTGTC	0.687													7	7					0	0	0	0	T	17838567	C	T	17838567	3	4	328	1	0	0	0	0	1	0	0	0	9303	739	26	4	2392	4	MAP1S	19	17838567	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	226951	17838567	41290416	2254	60468											
FCHO1	23149	broad.mit.edu	37	chr19	17877568	17877568	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacggaagttacaggatctCatcaaggacgttctccgcta	12	9	9	11	3	3	0	2	0	2	0	5	3	3	3	1	3	1	3	1	3	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17877568C>A	ENST00000594202.1	+	7	564	c.285C>A	c.(283-285)ctC>ctA	p.L95L	FCHO1_ENST00000597512.1_Silent_p.L102L|FCHO1_ENST00000596951.1_Silent_p.L95L|FCHO1_ENST00000252771.7_Silent_p.L95L|FCHO1_ENST00000600676.1_Silent_p.L95L|FCHO1_ENST00000595033.1_Silent_p.L45L|FCHO1_ENST00000596536.1_Silent_p.L95L|FCHO1_ENST00000389133.4_Silent_p.L95L|FCHO1_ENST00000539407.1_Silent_p.L95L	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	95										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TACAGGATCTCATCAAGGACG	0.647													23	15					2.39556e-15	2.43492e-15	1	0	A	17877568	C	A	17877568	2	1	328	1	0	0	0	0	0	0	0	1	5832	813	29	2		2	FCHO1	19	17877568	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	39001	17877568	41251415	2255	60469											
JAK3	3718	broad.mit.edu	37	chr19	17950353	17950353	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctacgtgcagccccccatcCcagcaggttgccaggagctc	7	7	10	17	1	1	0	0	0	1	0	3	1	2	1	5	2	6	4	5	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17950353C>T	ENST00000458235.1	-	10	1473	c.1374G>A	c.(1372-1374)tgG>tgA	p.W458*	JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Nonsense_Mutation_p.W458*|JAK3_ENST00000527670.1_Nonsense_Mutation_p.W458*	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	458	SH2; atypical.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GCCCCCCATCCCAGCAGGTTG	0.627		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								3	7					0	0	0	0	T	17950353	C	T	17950353	4	4	328	1	0	0	0	0	0	1	0	0	7992	624	22	4	2060	4	JAK3	19	17950353	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	72785	17950353	41178630	2256	60470											
MAST3	23031	broad.mit.edu	37	chr19	18232672	18232672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctcagcaggcagcagccCcttggatagtcctcggaatt	8	9	10	14	1	1	0	1	0	0	0	4	2	3	2	4	3	3	3	4	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:18232672C>T	ENST00000262811.5	+	4	173	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	58							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGCAGCAGCCCCTTGGATAGT	0.637													22	31					0	0	0	0	T	18232672	C	T	18232672	3	4	328	1	0	0	0	0	1	0	0	0	9395	623	22	4	187	4	MAST3	19	18232672	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	282319	18232672	40896311	2257	60471											
IFI30	10437	broad.mit.edu	37	chr19	18288548	18288548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagatcagacccagctcCttacccttgtctgccagttg	8	11	9	13	0	2	2	1	0	1	2	3	3	3	3	4	1	3	2	4	1	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:18288548C>T	ENST00000407280.2	+	6	732	c.664C>T	c.(664-666)Ctt>Ttt	p.L222F	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	222					antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						GACCCAGCTCCTTACCCTTGT	0.582													8	10					0	0	0	0	T	18288548	C	T	18288548	3	4	328	1	0	0	0	0	1	0	0	0	7568	681	24	4	686	4	IFI30	19	18288548	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	55876	18288548	40840435	2258	60472											
YJEFN3	374887	broad.mit.edu	37	chr19	19646389	19646389	+	Missense_Mutation	SNP	C	C	T																															tggtggatgccgtactgggcCccggcgtggagccgggcgag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:19646389C>T	ENST00000555938.1	+	7	604	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S	YJEFN3_ENST00000514277.3_Missense_Mutation_p.P199S|YJEFN3_ENST00000436027.4_Missense_Mutation_p.P149S																							CGTACTGGGCCCCGGCGTGGA	0.697													8	17					0	0	0	0	T	19646389	C	T	19646389	3	4	328	1	0	0	0	0	1	0	0	0	17580	623	22	4	617	4	YJEFN3	19	19646389	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1357841	19646389	39482594	2259	60473	691	2									
YJEFN3	374887	broad.mit.edu	37	chr19	19646390	19646390	+	Missense_Mutation	SNP	C	C	T																															ggtggatgccgtactgggccCcggcgtggagccgggcgagg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:19646390C>T	ENST00000555938.1	+	7	605	c.593C>T	c.(592-594)cCc>cTc	p.P198L	YJEFN3_ENST00000514277.3_Missense_Mutation_p.P199L|YJEFN3_ENST00000436027.4_Missense_Mutation_p.P149L																							GTACTGGGCCCCGGCGTGGAG	0.701													8	16					0	0	0	0	T	19646390	C	T	19646390	3	4	328	1	0	0	0	0	1	0	0	0	17580	623	22	4	618	4	YJEFN3	19	19646390	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	19646390	39482593	2260	60474	691	2									
ATP13A1	57130	broad.mit.edu	37	chr19	19765410	19765410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctctagagggtcacccacGagggtgccgtcgtccagctg	6	9	13	13	3	2	1	1	0	1	1	5	2	3	1	3	2	2	1	3	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:19765410G>A	ENST00000357324.6	-	13	1781	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	ATP13A1_ENST00000496082.1_5'UTR|ATP13A1_ENST00000291503.5_Silent_p.L467L	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	585					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGTCACCCACGAGGGTGCCGT	0.662													21	35					0	0	0	0	A	19765410	G	A	19765410	2	1	328	1	0	0	0	0	0	0	0	1	1127	1045	37	1		1	ATP13A1	19	19765410	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	119020	19765410	39363573	2261	60475											
ZNF253	56242	broad.mit.edu	37	chr19	20002338	20002338	+	Silent	SNP	C	C	T																															gagaacatacaaaattctttCcaaatagggatgctgagaag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:20002338C>T	ENST00000589717.1	+	4	374	c.282C>T	c.(280-282)ttC>ttT	p.F94F	ZNF253_ENST00000355650.4_Silent_p.F18F	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	94					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAAATTCTTTCCAAATAGGGA	0.368													10	23					0	0	0	0	T	20002338	C	T	20002338	2	4	328	1	0	0	0	0	0	0	0	1	17892	854	30	2		2	ZNF253	19	20002338	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	236928	20002338	39126645	2262	60476	692	2									
ZNF253	56242	broad.mit.edu	37	chr19	20002339	20002339	+	Nonsense_Mutation	SNP	C	C	T																															agaacatacaaaattctttcCaaatagggatgctgagaaga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:20002339C>T	ENST00000589717.1	+	4	375	c.283C>T	c.(283-285)Caa>Taa	p.Q95*	ZNF253_ENST00000355650.4_Nonsense_Mutation_p.Q19*	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	95					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAATTCTTTCCAAATAGGGAT	0.368													10	24					0	0	0	0	T	20002339	C	T	20002339	4	4	328	1	0	0	0	0	0	1	0	0	17892	595	21	4	297	4	ZNF253	19	20002339	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	20002339	39126644	2263	60477	692	2									
ZNF253	56242	broad.mit.edu	37	chr19	20002804	20002804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactacacataagaaaattCatactggagagaaaccctac	18	9	5	9	0	1	2	1	0	0	2	1	4	1	3	1	1	5	0	1	1	8	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:20002804C>T	ENST00000589717.1	+	4	840	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	ZNF253_ENST00000355650.4_Missense_Mutation_p.H174Y	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	250				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAAGAAAATTCATACTGGAGA	0.403													23	32					0	0	0	0	T	20002804	C	T	20002804	3	4	328	1	0	0	0	0	1	0	0	0	17892	826	29	2	762	2	ZNF253	19	20002804	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	465	20002804	39126179	2264	60478											
ZNF737	100129842	broad.mit.edu	37	chr19	20748444	20748444	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggaccggcactctcacCatttctaggcttccaggggc	6	10	11	14	2	2	0	1	0	2	0	5	1	3	1	3	5	0	2	3	5	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:20748444C>T	ENST00000427401.4	-	1	97	c.3_splice	c.e1+1	p.M1_splice	ZNF737_ENST00000596797.1_Splice_Site_p.M1_splice|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	1					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GCACTCTCACCATTTCTAGGC	0.637													26	61					0	0	0	0	T	20748444	C	T	20748444	5	4	328	1	0	0	0	0	0	0	1	0	18220	608	21	4	1623	4	ZNF737	19	20748444	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	745640	20748444	38380539	2265	60479											
ZNF626	199777	broad.mit.edu	37	chr19	20808016	20808016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagggtttctctccagtatGaattttcttatgtctagtaa	9	18	8	6	0	3	1	0	1	3	0	5	1	4	1	1	1	0	4	1	1	6	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:20808016G>A	ENST00000601440.1	-	4	813	c.667C>T	c.(667-669)Cat>Tat	p.H223Y	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TCTCCAGTATGAATTTTCTTA	0.388													20	27					0	0	0	0	A	20808016	G	A	20808016	3	1	328	1	0	0	0	0	1	0	0	0	18145	1290	45	2	923	2	ZNF626	19	20808016	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	59572	20808016	38320967	2266	60480											
ZNF208	7757	broad.mit.edu	37	chr19	22154137	22154137	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggattgagaacgtactaaaGgctttgccacattcttcaca	13	11	8	9	1	2	1	1	1	1	1	2	3	2	2	1	2	3	2	1	2	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:22154137G>A	ENST00000397126.4	-	4	3847	c.3699C>T	c.(3697-3699)gcC>gcT	p.A1233A	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACGTACTAAAGGCTTTGCCAC	0.403													15	31					0	0	0	0	A	22154137	G	A	22154137	2	1	328	1	0	0	0	0	0	0	0	1	17861	987	35	4		4	ZNF208	19	22154137	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1346121	22154137	36974846	2267	60481											
ZNF208	7757	broad.mit.edu	37	chr19	22154397	22154397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccacttataggctttgcCacattcttcacatttgtagg	9	14	8	10	0	2	0	1	0	1	0	2	1	2	1	2	3	1	2	2	3	3	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:22154397C>T	ENST00000397126.4	-	4	3587	c.3439G>A	c.(3439-3441)Ggc>Agc	p.G1147S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGCTTTGCCACATTCTTCA	0.363													11	17					0	0	0	0	T	22154397	C	T	22154397	3	4	328	1	0	0	0	0	1	0	0	0	17861	594	21	4	407	4	ZNF208	19	22154397	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	260	22154397	36974586	2268	60482											
ZNF208	7757	broad.mit.edu	37	chr19	22155687	22155687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgtagggtttctctcCagtatgaattctcttatgtt	8	19	7	7	0	2	1	0	1	2	0	5	1	3	1	1	1	0	4	1	1	4	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:22155687C>T	ENST00000397126.4	-	4	2297	c.2149G>A	c.(2149-2151)Gga>Aga	p.G717R	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGTTTCTCTCCAGTATGAATT	0.373													14	17					0	0	0	0	T	22155687	C	T	22155687	3	4	328	1	0	0	0	0	1	0	0	0	17861	603	21	4	1697	4	ZNF208	19	22155687	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1290	22155687	36973296	2269	60483											
RHPN2	85415	broad.mit.edu	37	chr19	33535241	33535241	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttgattctgcaatttactCcggccggtttgtgcaagggg	6	14	12	9	2	1	1	0	1	1	0	2	1	2	1	2	4	3	3	2	4	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:33535241C>T	ENST00000254260.3	-	2	134	c.99G>A	c.(97-99)cgG>cgA	p.R33R	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	33					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCAATTTACTCCGGCCGGTTT	0.478													34	44					0	0	0	0	T	33535241	C	T	33535241	2	4	328	1	0	0	0	0	0	0	0	1	13434	842	30	2		2	RHPN2	19	33535241	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	11379554	33535241	25593742	2270	60484											
SLC7A10	56301	broad.mit.edu	37	chr19	33702161	33702161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaacaggtaaccattgatcCctccgaaggttgacagagcc	12	8	10	11	1	0	4	0	3	0	1	2	5	2	4	4	2	3	2	4	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:33702161C>T	ENST00000253188.3	-	7	1132	c.986G>A	c.(985-987)gGg>gAg	p.G329E		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	329					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ACCATTGATCCCTCCGAAGGT	0.597													22	45					0	0	0	0	T	33702161	C	T	33702161	3	4	328	1	0	0	0	0	1	0	0	0	14781	623	22	4	605	4	SLC7A10	19	33702161	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	166920	33702161	25426822	2271	60485											
GPI	2821	broad.mit.edu	37	chr19	34887238	34887238	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatgggaaatacatcacCaaatctggaacccgtgtgga	14	8	9	10	1	2	0	1	0	1	0	3	3	3	3	3	3	2	0	3	3	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:34887238C>T	ENST00000415930.3	+	13	1298	c.1128C>T	c.(1126-1128)acC>acT	p.T376T	GPI_ENST00000356487.5_Silent_p.T365T|GPI_ENST00000586425.1_Silent_p.T365T	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	365					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AATACATCACCAAATCTGGAA	0.493													30	56					0	0	0	0	T	34887238	C	T	34887238	2	4	328	1	0	0	0	0	0	0	0	1	6660	581	21	4		4	GPI	19	34887238	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1185077	34887238	24241745	2272	60486											
ZNF599	148103	broad.mit.edu	37	chr19	35250228	35250228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctcatgtgtcgagtgaagGaagagctatagtaaaaggct	13	10	12	6	1	1	2	1	1	0	1	3	4	2	3	1	2	1	3	1	2	6	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35250228G>A	ENST00000329285.7	-	4	1851	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCGAGTGAAGGAAGAGCTATA	0.413													51	93					0	0	0	0	A	35250228	G	A	35250228	3	1	328	1	0	0	0	0	1	0	0	0	18124	1174	41	2	292	2	ZNF599	19	35250228	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	362990	35250228	23878755	2273	60487											
ZNF792	126375	broad.mit.edu	37	chr19	35450170	35450170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtctctgcaggtctttacagGggaagcctggccctcctccg	5	10	12	14	1	2	0	0	0	2	0	5	1	4	1	4	4	3	1	4	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35450170G>A	ENST00000404801.1	-	4	975	c.589C>T	c.(589-591)Cct>Tct	p.P197S	ZNF792_ENST00000605484.1_Missense_Mutation_p.P130S	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTCTTTACAGGGGAAGCCTGG	0.552													73	138					0	0	0	0	A	35450170	G	A	35450170	3	1	328	1	0	0	0	0	1	0	0	0	18257	1232	43	4	1313	4	ZNF792	19	35450170	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	199942	35450170	23678813	2274	60488											
GRAMD1A	57655	broad.mit.edu	37	chr19	35512502	35512502	+	Silent	SNP	C	C	T																															ggcattgaagactatttccaCcatctgggtagggacagaag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35512502C>T	ENST00000599564.1	+	15	1904	c.1833C>T	c.(1831-1833)caC>caT	p.H611H	GRAMD1A_ENST00000317991.5_Silent_p.H524H|GRAMD1A_ENST00000504615.2_Silent_p.H290H|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000411896.2_Silent_p.H517H			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	524						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTATTTCCACCATCTGGGTA	0.587													23	53					0	0	0	0	T	35512502	C	T	35512502	2	4	328	1	0	0	0	0	0	0	0	1	6797	506	18	4		4	GRAMD1A	19	35512502	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	62332	35512502	23616481	2275	60489	693	2									
GRAMD1A	57655	broad.mit.edu	37	chr19	35512503	35512503	+	Missense_Mutation	SNP	C	C	T																															gcattgaagactatttccacCatctgggtagggacagaagg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35512503C>T	ENST00000599564.1	+	15	1905	c.1834C>T	c.(1834-1836)Cat>Tat	p.H612Y	GRAMD1A_ENST00000317991.5_Missense_Mutation_p.H525Y|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.H291Y|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.H518Y			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	525						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTATTTCCACCATCTGGGTAG	0.587													23	52					0	0	0	0	T	35512503	C	T	35512503	3	4	328	1	0	0	0	0	1	0	0	0	6797	594	21	4	1627	4	GRAMD1A	19	35512503	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	35512503	23616480	2276	60490	693	2									
SCN1B	6324	broad.mit.edu	37	chr19	35524767	35524767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaaccgcccacagcagcGggctgagggggaggggagca	10	1	18	12	2	0	1	0	1	0	0	0	3	0	3	3	5	5	3	3	5	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35524767G>A	ENST00000415950.3	+	3	572	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000262631.5_Intron|SCN1B_ENST00000596348.1_Intron	NM_199037.3	NP_950238.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	0					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCACAGCAGCGGGCTGAGGGG	0.657													7	10					0	0	0	0	A	35524767	G	A	35524767	3	1	328	1	0	0	0	0	1	0	0	0	14002	1116	39	1	582	1	SCN1B	19	35524767	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	12264	35524767	23604216	2277	60491											
LGI4	163175	broad.mit.edu	37	chr19	35625002	35625002	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggtgactcccgtcctgacGagtgagctggggatgtgggc	5	9	18	9	2	0	3	0	3	0	0	2	5	2	4	2	4	1	1	2	4	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35625002G>A	ENST00000392225.3	-	2	696	c.177C>T	c.(175-177)ctC>ctT	p.L59L	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000591633.1_Silent_p.L59L|LGI4_ENST00000310123.3_Silent_p.L59L			Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	59						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CCGTCCTGACGAGTGAGCTGG	0.617													4	4					0	0	0	0	A	35625002	G	A	35625002	2	1	328	1	0	0	0	0	0	0	0	1	8808	1045	37	1		1	LGI4	19	35625002	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	100235	35625002	23503981	2278	60492											
CD22	933	broad.mit.edu	37	chr19	35836539	35836539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctctctgaaggcccccactCcctgggatgctacaatccaa	9	8	7	17	0	1	1	0	1	1	0	4	2	3	2	5	2	2	1	5	2	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35836539C>T	ENST00000085219.5	+	12	2309	c.2243C>T	c.(2242-2244)tCc>tTc	p.S748F	CD22_ENST00000419549.2_Missense_Mutation_p.S576F|CD22_ENST00000536635.2_Missense_Mutation_p.S660F|CD22_ENST00000594250.1_Missense_Mutation_p.S571F|CD22_ENST00000544992.2_Intron|CD22_ENST00000270311.6_Intron|CD22_ENST00000341773.6_Missense_Mutation_p.S571F	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	748					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GGCCCCCACTCCCTGGGATGC	0.577													31	38					0	0	0	0	T	35836539	C	T	35836539	3	4	328	1	0	0	0	0	1	0	0	0	3014	855	30	2	2285	2	CD22	19	35836539	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	211537	35836539	23292444	2279	60493											
HAUS5	23354	broad.mit.edu	37	chr19	36113525	36113525	+	Silent	SNP	C	C	T																															ctgctgcagatccaggcatcCcaggaaaaacagcagaaaga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36113525C>T	ENST00000203166.5	+	18	1699	c.1674C>T	c.(1672-1674)tcC>tcT	p.S558S	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	558					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TCCAGGCATCCCAGGAAAAAC	0.562													14	25					0	0	0	0	T	36113525	C	T	36113525	2	4	328	1	0	0	0	0	0	0	0	1	7019	610	22	4		4	HAUS5	19	36113525	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	276986	36113525	23015458	2280	60494	694	2									
HAUS5	23354	broad.mit.edu	37	chr19	36113526	36113526	+	Nonsense_Mutation	SNP	C	C	T																															tgctgcagatccaggcatccCaggaaaaacagcagaaagag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36113526C>T	ENST00000203166.5	+	18	1700	c.1675C>T	c.(1675-1677)Cag>Tag	p.Q559*	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	559					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCAGGCATCCCAGGAAAAACA	0.557													15	25					0	0	0	0	T	36113526	C	T	36113526	4	4	328	1	0	0	0	0	0	1	0	0	7019	595	21	4	1745	4	HAUS5	19	36113526	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	36113526	23015457	2281	60495	694	2									
RBM42	79171	broad.mit.edu	37	chr19	36125268	36125268	+	Nonsense_Mutation	SNP	G	G	A																															gaccccagcctgctggagtgGgatgcaggtaagctgctgaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36125268G>A	ENST00000262633.4	+	8	1233	c.1128G>A	c.(1126-1128)tgG>tgA	p.W376*	RBM42_ENST00000360475.4_Nonsense_Mutation_p.W347*|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000592202.1_Nonsense_Mutation_p.W322*|RBM42_ENST00000589559.1_Nonsense_Mutation_p.W347*|RBM42_ENST00000589871.1_Nonsense_Mutation_p.W354*|RBM42_ENST00000588161.1_Nonsense_Mutation_p.W346*	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	376	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTGGAGTGGGATGCAGGTA	0.617													15	18					0	0	0	0	A	36125268	G	A	36125268	4	1	328	1	0	0	0	0	0	1	0	0	13218	1241	43	4	1158	4	RBM42	19	36125268	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	11742	36125268	23003715	2282	60496	695	2									
RBM42	79171	broad.mit.edu	37	chr19	36125269	36125269	+	Missense_Mutation	SNP	G	G	A																															accccagcctgctggagtggGatgcaggtaagctgctgaag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36125269G>A	ENST00000262633.4	+	8	1234	c.1129G>A	c.(1129-1131)Gat>Aat	p.D377N	RBM42_ENST00000360475.4_Missense_Mutation_p.D348N|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000592202.1_Missense_Mutation_p.D323N|RBM42_ENST00000589559.1_Missense_Mutation_p.D348N|RBM42_ENST00000589871.1_Missense_Mutation_p.D355N|RBM42_ENST00000588161.1_Missense_Mutation_p.D347N	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	377	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGGAGTGGGATGCAGGTAA	0.612													15	17					0	0	0	0	A	36125269	G	A	36125269	3	1	328	1	0	0	0	0	1	0	0	0	13218	1174	41	2	1159	2	RBM42	19	36125269	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	36125269	23003714	2283	60497	695	2									
RBM42	79171	broad.mit.edu	37	chr19	36128163	36128163	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccttaaggccaaggtgatCcgtgacaagcgcacaggcaa	12	7	11	11	2	0	2	0	2	0	0	2	2	2	2	3	3	1	2	3	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36128163C>T	ENST00000262633.4	+	9	1344	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	RBM42_ENST00000360475.4_Silent_p.I384I|RBM42_ENST00000586618.1_Silent_p.I117I|RBM42_ENST00000592202.1_Silent_p.I359I|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000589871.1_Silent_p.I391I|RBM42_ENST00000588161.1_Silent_p.I383I	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	413	Necessary for interaction with HNRNPK (By similarity).|RRM.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCAAGGTGATCCGTGACAAGC	0.587													33	43					0	0	0	0	T	36128163	C	T	36128163	2	4	328	1	0	0	0	0	0	0	0	1	13218	845	30	2		2	RBM42	19	36128163	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2894	36128163	23000820	2284	60498											
NPHS1	4868	broad.mit.edu	37	chr19	36333131	36333131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcagaactggtgctgtctCcagctgcagccaccttagtt	7	11	11	12	0	1	1	0	0	1	1	2	1	1	1	3	2	5	5	3	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36333131C>A	ENST00000378910.5	-	19	2557	c.2558G>T	c.(2557-2559)gGa>gTa	p.G853V	NPHS1_ENST00000353632.6_Missense_Mutation_p.G853V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	853	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTGCTGTCTCCAGCTGCAGC	0.592													6	14					3.59834e-05	3.61239e-05	1	0	A	36333131	C	A	36333131	3	1	328	1	0	0	0	0	1	0	0	0	10652	855	30	2	1211	2	NPHS1	19	36333131	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	204968	36333131	22795852	2285	60499											
NPHS1	4868	broad.mit.edu	37	chr19	36338958	36338958	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaccttgtaccacatgagGgagggctctgggttgccccc	7	8	12	14	0	1	1	0	1	1	0	1	2	1	2	5	3	3	3	5	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36338958G>A	ENST00000378910.5	-	11	1424	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	NPHS1_ENST00000353632.6_Silent_p.S475S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	475	Ig-like C2-type 5.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACCACATGAGGGAGGGCTCTG	0.622													29	39					0	0	0	0	A	36338958	G	A	36338958	2	1	328	1	0	0	0	0	0	0	0	1	10652	1219	43	4		4	NPHS1	19	36338958	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5827	36338958	22790025	2286	60500											
KIRREL2	84063	broad.mit.edu	37	chr19	36351463	36351463	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcggggcccgcgggccAaggttagaggtcgtggcaga	6	6	19	10	4	0	2	0	0	0	2	2	2	0	2	2	6	1	3	2	6	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36351463A>T	ENST00000360202.5	+	7	1020	c.822A>T	c.(820-822)ccA>ccT	p.P274P	KIRREL2_ENST00000262625.7_Silent_p.P274P|KIRREL2_ENST00000347900.6_Silent_p.P224P|KIRREL2_ENST00000592409.1_Silent_p.P274P|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Silent_p.P254P	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	274	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCGCGGGCCAAGGTTAGAGG	0.647													33	49					0	0	0	0	T	36351463	A	T	36351463	2	4	328	1	0	0	0	0	0	0	0	1	8377	117	5	5		5	KIRREL2	19	36351463	Silent	SNP	A	TCGA-CV-7568-01A-11D-2229-08	12505	36351463	22777520	2287	60501											
KIRREL2	84063	broad.mit.edu	37	chr19	36351847	36351847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcaaagccggagcccgtgtCcgtggacgtgggggaagacg	8	4	19	10	5	0	1	0	0	0	1	1	4	1	4	3	5	2	1	3	5	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36351847C>T	ENST00000360202.5	+	8	1163	c.965C>T	c.(964-966)tCc>tTc	p.S322F	KIRREL2_ENST00000262625.7_Missense_Mutation_p.S322F|KIRREL2_ENST00000347900.6_Missense_Mutation_p.S272F|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S322F|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.S302F	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	322	Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCCCGTGTCCGTGGACGTG	0.677													9	29					0	0	0	0	T	36351847	C	T	36351847	3	4	328	1	0	0	0	0	1	0	0	0	8377	855	30	2	995	2	KIRREL2	19	36351847	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	384	36351847	22777136	2288	60502											
CLIP3	25999	broad.mit.edu	37	chr19	36509916	36509916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttggagatcttggacacgGaggcaaagagacctaggggt	11	7	15	8	1	1	2	0	0	1	2	1	6	1	4	2	6	0	1	2	6	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36509916G>A	ENST00000360535.4	-	9	1294	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.S356F	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	356	CAP-Gly 1.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTTGGACACGGAGGCAAAGAG	0.627													33	54					0	0	0	0	A	36509916	G	A	36509916	3	1	328	1	0	0	0	0	1	0	0	0	3564	1174	41	2	600	2	CLIP3	19	36509916	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	158069	36509916	22619067	2289	60503											
WDR62	284403	broad.mit.edu	37	chr19	36595903	36595903	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggagctgctggtgcaggcCgtgcggaggaaggcacgggg	6	5	21	9	4	0	0	0	0	0	0	1	3	0	3	1	8	4	4	1	8	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36595903C>T	ENST00000401500.2	+	32	4580	c.4545C>T	c.(4543-4545)gcC>gcT	p.A1515A	WDR62_ENST00000270301.7_Silent_p.A1510A	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1510					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGTGCAGGCCGTGCGGAGGA	0.652													5	9					0	0	0	0	T	36595903	C	T	36595903	2	4	328	1	0	0	0	0	0	0	0	1	17409	639	23	1		1	WDR62	19	36595903	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	85987	36595903	22533080	2290	60504											
ZNF146	7705	broad.mit.edu	37	chr19	36727789	36727789	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttactgagcatgagaaaatCcatattggagagaagccttt	14	11	9	7	0	0	3	0	2	0	2	1	6	1	4	2	1	3	1	2	1	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36727789C>T	ENST00000456324.1	+	3	1896	c.447C>T	c.(445-447)atC>atT	p.I149I	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Silent_p.I149I	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	149					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					ATGAGAAAATCCATATTGGAG	0.423													27	36					0	0	0	0	T	36727789	C	T	36727789	2	4	328	1	0	0	0	0	0	0	0	1	17828	845	30	2		2	ZNF146	19	36727789	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	131886	36727789	22401194	2291	60505											
ZNF567	163081	broad.mit.edu	37	chr19	37211305	37211305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatacataccggccagaaatCctatgaatgtcctcagtgtg	13	10	8	10	1	1	2	1	1	0	1	3	2	3	2	4	1	2	0	4	1	6	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:37211305C>T	ENST00000585696.1	+	3	2816	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	ZNF567_ENST00000392163.2_Missense_Mutation_p.S529F|ZNF567_ENST00000360729.4_Missense_Mutation_p.S529F|ZNF567_ENST00000588311.1_Missense_Mutation_p.S529F|ZNF567_ENST00000536254.2_Missense_Mutation_p.S560F|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGCCAGAAATCCTATGAATGT	0.418													41	57					0	0	0	0	T	37211305	C	T	37211305	3	4	328	1	0	0	0	0	1	0	0	0	18093	855	30	2	1596	2	ZNF567	19	37211305	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	483516	37211305	21917678	2292	60506											
ZNF345	25850	broad.mit.edu	37	chr19	37367893	37367893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcagtatccagcatcagaGaattcatactgatgagaaac	15	11	7	8	0	3	3	3	2	0	2	4	5	4	3	1	0	3	2	1	0	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:37367893G>A	ENST00000529555.1	+	2	949	c.161G>A	c.(160-162)aGa>aAa	p.R54K	ZNF345_ENST00000420450.1_Missense_Mutation_p.R54K|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.R54K			Q14585	ZN345_HUMAN	zinc finger protein 345	54					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	p.R54I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGCATCAGAGAATTCATACT	0.393													40	59					0	0	0	0	A	37367893	G	A	37367893	3	1	328	1	0	0	0	0	1	0	0	0	17954	942	33	2	163	2	ZNF345	19	37367893	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	156588	37367893	21761090	2293	60507											
ZNF585A	199704	broad.mit.edu	37	chr19	37643441	37643441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaattcgtttatgaacatGgagttgcgacttggaggtaa	11	13	13	4	2	0	2	0	2	0	0	1	5	0	4	0	3	2	3	0	3	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:37643441G>A	ENST00000356958.4	-	5	1618	c.1360C>T	c.(1360-1362)Cat>Tat	p.H454Y	ZNF585A_ENST00000292841.5_Missense_Mutation_p.H399Y|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H399Y|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATGAACATGGAGTTGCGAC	0.403													62	118					0	0	0	0	A	37643441	G	A	37643441	3	1	328	1	0	0	0	0	1	0	0	0	18112	1348	47	4	953	4	ZNF585A	19	37643441	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	275548	37643441	21485542	2294	60508											
HKR1	284459	broad.mit.edu	37	chr19	37853873	37853873	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcagggaatgtgggcgTggctttcgccagcattcaca	7	11	14	9	2	1	0	1	0	0	0	2	1	1	1	1	3	2	4	1	3	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:37853873T>A	ENST00000591471.1	+	9	1998	c.357T>A	c.(355-357)cgT>cgA	p.R119R	HKR1_ENST00000589392.1_Silent_p.R374R|HKR1_ENST00000541583.2_Silent_p.R331R|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Silent_p.R119R|HKR1_ENST00000324411.4_Silent_p.R392R|HKR1_ENST00000392153.3_Silent_p.R373R			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	392					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTGGGCGTGGCTTTCGCC	0.527													40	65					0	0	0	0	A	37853873	T	A	37853873	2	1	328	1	0	0	0	0	0	0	0	1	7244	1683	59	5		5	HKR1	19	37853873	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	210432	37853873	21275110	2295	60509											
ZNF569	148266	broad.mit.edu	37	chr19	37904541	37904541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctcatatgaagagcaaggGatgcaattcgagggaaggct	13	9	13	6	1	1	2	1	1	1	1	3	5	1	4	0	3	2	3	0	3	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:37904541G>A	ENST00000316950.6	-	6	1576	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	ZNF569_ENST00000392150.2_Missense_Mutation_p.S181F|ZNF569_ENST00000392149.2_Missense_Mutation_p.S340F	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGAGCAAGGGATGCAATTCG	0.388													44	84					0	0	0	0	A	37904541	G	A	37904541	3	1	328	1	0	0	0	0	1	0	0	0	18095	1174	41	2	1045	2	ZNF569	19	37904541	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	50668	37904541	21224442	2296	60510											
GGN	199720	broad.mit.edu	37	chr19	38876799	38876799	+	Missense_Mutation	SNP	C	C	T																															ccccgatgcctccgccagccCcgttgaagcggaagtggcgt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:38876799C>T	ENST00000334928.6	-	3	1235	c.1103G>A	c.(1102-1104)gGg>gAg	p.G368E	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	368	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCCGCCAGCCCCGTTGAAGCG	0.697													3	9					0	0	0	0	T	38876799	C	T	38876799	3	4	328	1	0	0	0	0	1	0	0	0	6409	623	22	4	863	4	GGN	19	38876799	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	972258	38876799	20252184	2297	60511	696	2									
GGN	199720	broad.mit.edu	37	chr19	38876800	38876800	+	Missense_Mutation	SNP	C	C	T																															cccgatgcctccgccagcccCgttgaagcggaagtggcgtt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:38876800C>T	ENST00000334928.6	-	3	1234	c.1102G>A	c.(1102-1104)Ggg>Agg	p.G368R	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	368	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGCCAGCCCCGTTGAAGCGG	0.697													3	8					0	0	0	0	T	38876800	C	T	38876800	3	4	328	1	0	0	0	0	1	0	0	0	6409	652	23	1	864	1	GGN	19	38876800	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	38876800	20252183	2298	60512	696	2									
RYR1	6261	broad.mit.edu	37	chr19	38933001	38933001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccccagaatgtgccccccGatctggccatctgttgcttc	6	10	8	17	1	2	1	0	0	2	1	3	2	2	1	6	1	2	2	6	1	1	2	rs118192160		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:38933001G>A	ENST00000355481.4	+	3	309	c.178G>A	c.(178-180)Gat>Aat	p.D60N	RYR1_ENST00000360985.3_Missense_Mutation_p.D60N|RYR1_ENST00000359596.3_Missense_Mutation_p.D60N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	60					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGTGCCCCCCGATCTGGCCAT	0.632													15	40					0	0	0	0	A	38933001	G	A	38933001	3	1	328	1	0	0	0	0	1	0	0	0	13853	1058	37	1	188	1	RYR1	19	38933001	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	56201	38933001	20195982	2299	60513											
RYR1	6261	broad.mit.edu	37	chr19	38956791	38956791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagccacgtgcggctgacGccggcgcagacgacactggt	7	5	15	14	6	0	3	0	2	0	1	0	4	0	3	2	3	2	2	2	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:38956791G>A	ENST00000355481.4	+	24	3062	c.2931G>A	c.(2929-2931)acG>acA	p.T977T	RYR1_ENST00000360985.3_Silent_p.T977T|RYR1_ENST00000359596.3_Silent_p.T977T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	977	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCGGCTGACGCCGGCGCAGA	0.657													10	13					0	0	0	0	A	38956791	G	A	38956791	2	1	328	1	0	0	0	0	0	0	0	1	13853	1074	38	1		1	RYR1	19	38956791	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	23790	38956791	20172192	2300	60514											
RYR1	6261	broad.mit.edu	37	chr19	39075702	39075702	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttcgacatcaccttcttCttcttcgtcatcgtcatcct	5	17	4	15	3	7	0	3	0	4	0	11	1	8	0	2	0	0	0	2	0	0	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:39075702C>T	ENST00000355481.4	+	101	14882	c.14751C>T	c.(14749-14751)ttC>ttT	p.F4917F	RYR1_ENST00000360985.3_Silent_p.F4917F|RYR1_ENST00000359596.3_Silent_p.F4922F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4922					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACCTTCTTCTTCTTCGTCA	0.612													17	23					0	0	0	0	T	39075702	C	T	39075702	2	4	328	1	0	0	0	0	0	0	0	1	13853	912	32	2		2	RYR1	19	39075702	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	118911	39075702	20053281	2301	60515											
PAK4	10298	broad.mit.edu	37	chr19	39660313	39660313	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctgccccgccagtggcaGagcctgatcgaggagtcggc	6	5	17	13	3	0	2	0	1	0	1	2	4	0	3	4	4	2	2	4	4	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:39660313G>A	ENST00000599386.1	+	3	301	c.120G>A	c.(118-120)caG>caA	p.Q40Q	PAK4_ENST00000435673.2_Silent_p.Q40Q|PAK4_ENST00000360442.3_Silent_p.Q40Q|PAK4_ENST00000358301.3_Silent_p.Q40Q|PAK4_ENST00000321944.4_Silent_p.Q40Q|PAK4_ENST00000593690.1_Silent_p.Q40Q|PAK4_ENST00000599470.1_Silent_p.Q40Q	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	40	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GCCAGTGGCAGAGCCTGATCG	0.697													28	30					0	0	0	0	A	39660313	G	A	39660313	2	1	328	1	0	0	0	0	0	0	0	1	11474	933	33	2		2	PAK4	19	39660313	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	584611	39660313	19468670	2302	60516											
DLL3	10683	broad.mit.edu	37	chr19	39994744	39994744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggctgcagccctgagcatgGcttctgtgaacagcccggtg	7	8	14	12	1	1	2	0	2	1	0	1	2	1	2	2	3	5	4	2	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:39994744G>A	ENST00000205143.4	+	5	693	c.686G>A	c.(685-687)gGc>gAc	p.G229D	DLL3_ENST00000356433.5_Missense_Mutation_p.G229D	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	229	EGF-like 1.				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTGAGCATGGCTTCTGTGAA	0.642													18	40					0	0	0	0	A	39994744	G	A	39994744	3	1	328	1	0	0	0	0	1	0	0	0	4604	1203	42	4	704	4	DLL3	19	39994744	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	334431	39994744	19134239	2303	60517											
FCGBP	8857	broad.mit.edu	37	chr19	40398045	40398045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacgtaggtggccactgcagGacagaggcctccaggatggc	9	5	15	12	1	0	1	0	0	0	1	1	3	1	3	3	6	1	2	3	6	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:40398045G>A	ENST00000221347.6	-	14	6929	c.6922C>T	c.(6922-6924)Cct>Tct	p.P2308S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2308						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCACTGCAGGACAGAGGCCT	0.692													20	58					0	0	0	0	A	40398045	G	A	40398045	3	1	328	1	0	0	0	0	1	0	0	0	5823	1174	41	2	9387	2	FCGBP	19	40398045	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	403301	40398045	18730938	2304	60518											
MAP3K10	4294	broad.mit.edu	37	chr19	40704301	40704301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctgatcctggaggccatCgagaaccacaacctcgcaga	11	6	10	14	2	0	3	0	1	0	2	4	5	2	4	5	2	2	1	5	2	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:40704301C>T	ENST00000253055.3	+	2	990	c.702C>T	c.(700-702)atC>atT	p.I234I	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	234	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGGAGGCCATCGAGAACCACA	0.637													20	31					0	0	0	0	T	40704301	C	T	40704301	2	4	328	1	0	0	0	0	0	0	0	1	9313	874	31	1		1	MAP3K10	19	40704301	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	306256	40704301	18424682	2305	60519											
PRX	57716	broad.mit.edu	37	chr19	40903172	40903172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctcgagccccaaatcgggGaaaactaaggcggggcatct	11	6	13	11	3	1	0	0	0	1	0	3	2	1	1	2	5	3	2	2	5	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:40903172G>A	ENST00000324001.7	-	7	1357	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	363					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAAATCGGGGAAAACTAAGG	0.632													31	56					0	0	0	0	A	40903172	G	A	40903172	3	1	328	1	0	0	0	0	1	0	0	0	12721	1174	41	2	3302	2	PRX	19	40903172	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	198871	40903172	18225811	2306	60520											
SERTAD1	29950	broad.mit.edu	37	chr19	40929339	40929339	+	Missense_Mutation	SNP	C	C	T																															gagggagctagaggccacggCcgggggtgcctgtgccaccg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:40929339C>T	ENST00000357949.4	-	2	273	c.115G>A	c.(115-117)Gcc>Acc	p.A39T		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	39	SERTA.				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGCCACGGCCGGGGGTGCC	0.637													15	24					0	0	0	0	T	40929339	C	T	40929339	3	4	328	1	0	0	0	0	1	0	0	0	14207	739	26	4	599	4	SERTAD1	19	40929339	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	26167	40929339	18199644	2307	60521	697	2									
SERTAD1	29950	broad.mit.edu	37	chr19	40929340	40929340	+	Silent	SNP	C	C	T																															agggagctagaggccacggcCgggggtgcctgtgccaccgc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:40929340C>T	ENST00000357949.4	-	2	272	c.114G>A	c.(112-114)ccG>ccA	p.P38P		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	38	SERTA.				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGCCACGGCCGGGGGTGCCT	0.642													15	25					0	0	0	0	T	40929340	C	T	40929340	2	4	328	1	0	0	0	0	0	0	0	1	14207	639	23	1		1	SERTAD1	19	40929340	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	40929340	18199643	2308	60522	697	2									
NUMBL	9253	broad.mit.edu	37	chr19	41188694	41188694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccacaggacagacttcacgGactttcggcccatctggagg	9	7	11	14	2	2	1	1	0	1	1	3	4	2	4	2	5	0	0	2	5	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:41188694G>A	ENST00000252891.4	-	5	505	c.338C>T	c.(337-339)tCc>tTc	p.S113F	NUMBL_ENST00000598779.1_Missense_Mutation_p.S72F|NUMBL_ENST00000540131.1_Missense_Mutation_p.S72F	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	113	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGACTTCACGGACTTTCGGCC	0.652													37	30					0	0	0	0	A	41188694	G	A	41188694	3	1	328	1	0	0	0	0	1	0	0	0	10823	1174	41	2	1515	2	NUMBL	19	41188694	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	259354	41188694	17940289	2309	60523											
TGFB1	7040	broad.mit.edu	37	chr19	41854275	41854275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcccgggagagcaacacGggttcaggtaccgcttctcg	7	8	13	13	4	3	1	1	0	2	1	4	2	3	1	2	3	4	4	2	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:41854275G>A	ENST00000221930.5	-	2	1307	c.441C>T	c.(439-441)ccC>ccT	p.P147P		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	147					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	AGAGCAACACGGGTTCAGGTA	0.507													58	100					0	0	0	0	A	41854275	G	A	41854275	2	1	328	1	0	0	0	0	0	0	0	1	15910	1103	39	1		1	TGFB1	19	41854275	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	665581	41854275	17274708	2310	60524											
CEACAM7	1087	broad.mit.edu	37	chr19	42191006	42191006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atagttggcatgcaccctttCccctttgtaccagttgtagc	7	14	8	12	0	0	0	0	0	0	0	1	0	1	0	4	1	3	6	4	1	3	7	rs1049234		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42191006C>T	ENST00000006724.3	-	2	412	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000602225.1_Missense_Mutation_p.E71K|CEACAM7_ENST00000338196.4_Missense_Mutation_p.E71K|CEACAM7_ENST00000401731.1_Missense_Mutation_p.E71K	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	71	Ig-like V-type.			E -> Q (in Ref. 3; AAB62924/AAB62925).		anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGCACCCTTTCCCCTTTGTAC	0.448													46	107					0	0	0	0	T	42191006	C	T	42191006	3	4	328	1	0	0	0	0	1	0	0	0	3226	864	30	2	598	2	CEACAM7	19	42191006	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	336731	42191006	16937977	2311	60525											
CEACAM6	4680	broad.mit.edu	37	chr19	42260761	42260761	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaatataccccaatgcatcCctgctgatccagaacgtcac	13	8	5	15	1	1	2	1	1	0	1	3	2	3	2	4	0	4	2	4	0	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42260761C>T	ENST00000199764.6	+	2	536	c.318C>T	c.(316-318)tcC>tcT	p.S106S	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	106	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCAATGCATCCCTGCTGATCC	0.463													113	184					0	0	0	0	T	42260761	C	T	42260761	2	4	328	1	0	0	0	0	0	0	0	1	3225	610	22	4		4	CEACAM6	19	42260761	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	69755	42260761	16868222	2312	60526											
CD79A	973	broad.mit.edu	37	chr19	42383095	42383095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgtggatgcacaaggtcCcagcatcattgatggtgagc	9	9	12	11	0	1	2	1	2	0	0	2	3	2	3	2	3	3	2	2	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42383095C>T	ENST00000221972.3	+	2	300	c.115C>T	c.(115-117)Cca>Tca	p.P39S	CD79A_ENST00000444740.2_Missense_Mutation_p.P39S	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	39	Ig-like C2-type.				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GCACAAGGTCCCAGCATCATT	0.632			"O, S"		DLBCL								21	33					0	0	0	0	T	42383095	C	T	42383095	3	4	328	1	0	0	0	0	1	0	0	0	3065	623	22	4	121	4	CD79A	19	42383095	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	122334	42383095	16745888	2313	60527											
ARHGEF1	9138	broad.mit.edu	37	chr19	42409915	42409915	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacttcctcccctcagcacCcgagaacccctcctcagcag	8	6	6	21	1	2	1	2	0	0	1	5	2	5	1	7	0	3	3	7	0	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42409915C>T	ENST00000599846.1	+	26	2633	c.2508C>T	c.(2506-2508)acC>acT	p.T836T	ARHGEF1_ENST00000378152.4_Silent_p.T762T|ARHGEF1_ENST00000337665.4_Silent_p.T795T|ARHGEF1_ENST00000354532.3_Silent_p.T780T|ARHGEF1_ENST00000347545.4_Silent_p.T747T			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	780					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCCTCAGCACCCGAGAACCCC	0.672													16	40					0	0	0	0	T	42409915	C	T	42409915	2	4	328	1	0	0	0	0	0	0	0	1	895	610	22	4		4	ARHGEF1	19	42409915	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	26820	42409915	16719068	2314	60528											
DEDD2	162989	broad.mit.edu	37	chr19	42713945	42713945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgccgtctggcaccacCactgggccggccccgactcc	4	4	11	22	5	1	0	0	0	1	0	2	1	2	0	9	3	0	1	9	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42713945C>A	ENST00000595337.1	-	4	583	c.496G>T	c.(496-498)Ggt>Tgt	p.G166C	DEDD2_ENST00000598727.1_Missense_Mutation_p.G166C|DEDD2_ENST00000596251.1_Missense_Mutation_p.G166C|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Missense_Mutation_p.G161C	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	166					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CTGGCACCACCACTGGGCCGG	0.667													29	51					2.65835e-16	2.70449e-16	1	0	A	42713945	C	A	42713945	3	1	328	1	0	0	0	0	1	0	0	0	4417	594	21	4	492	4	DEDD2	19	42713945	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	304030	42713945	16415038	2315	60529											
MEGF8	1954	broad.mit.edu	37	chr19	42862972	42862972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaatgtgcgtggctcatctCggggtctgggccaagttcct	5	11	15	10	2	3	0	1	0	2	0	5	1	4	1	2	5	1	2	2	5	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42862972C>T	ENST00000334370.4	+	29	5643	c.5008C>T	c.(5008-5010)Cgg>Tgg	p.R1670W	MEGF8_ENST00000251268.6_Missense_Mutation_p.R1737W	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1737						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGCTCATCTCGGGGTCTGGG	0.617													10	11					0	0	0	0	T	42862972	C	T	42862972	3	4	328	1	0	0	0	0	1	0	0	0	9532	875	31	1	5122	1	MEGF8	19	42862972	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	149027	42862972	16266011	2316	60530											
LIPE	3991	broad.mit.edu	37	chr19	42906968	42906968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atttttggcctcagcctcttCccctgcatcctcaggtggta	5	14	8	14	0	3	0	2	0	1	0	5	0	5	0	5	3	2	2	5	3	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42906968C>T	ENST00000244289.4	-	9	3034	c.2758G>A	c.(2758-2760)Gaa>Aaa	p.E920K	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	920					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)				TCAGCCTCTTCCCCTGCATCC	0.627													27	35					0	0	0	0	T	42906968	C	T	42906968	3	4	328	1	0	0	0	0	1	0	0	0	8876	864	30	2	480	2	LIPE	19	42906968	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	43996	42906968	16222015	2317	60531											
PSG8	440533	broad.mit.edu	37	chr19	43258544	43258544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtggctgagttacgaacaGagcaagcatagagcccgcta	13	6	12	10	2	0	3	0	1	0	2	0	4	0	3	1	1	5	5	1	1	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:43258544G>A	ENST00000404209.4	-	5	1280	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	PSG8_ENST00000406636.3_Missense_Mutation_p.S273F|PSG8_ENST00000401467.2_Missense_Mutation_p.S302F|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.S395F	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	395	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTACGAACAGAGCAAGCATA	0.448													101	185					0	0	0	0	A	43258544	G	A	43258544	3	1	328	1	0	0	0	0	1	0	0	0	12740	942	33	2	121	2	PSG8	19	43258544	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	351576	43258544	15870439	2318	60532											
PSG2	5670	broad.mit.edu	37	chr19	43579506	43579506	+	Splice_Site	SNP	G	G	A																															gaggaacagaagatactcacGgaggagattcagggtgactg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:43579506G>A	ENST00000406487.1	-	3	807	c.709_splice	c.e3+1	p.H237_splice		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	237					cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGATACTCACGGAGGAGATTC	0.532													112	207					0	0	0	0	A	43579506	G	A	43579506	5	1	328	1	0	0	0	0	0	0	1	0	12734	1130	39	1	310	1	PSG2	19	43579506	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	320962	43579506	15549477	2319	60533	698	2									
PSG2	5670	broad.mit.edu	37	chr19	43579507	43579507	+	Splice_Site	SNP	G	G	A																															aggaacagaagatactcacgGaggagattcagggtgactgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:43579507G>A	ENST00000406487.1	-	3	806	c.709_splice	c.e3+1	p.L236_splice		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	236					cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GATACTCACGGAGGAGATTCA	0.527													112	208					0	0	0	0	A	43579507	G	A	43579507	5	1	328	1	0	0	0	0	0	0	1	0	12734	1188	41	2	311	2	PSG2	19	43579507	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	43579507	15549476	2320	60534	698	2									
KCNN4	3783	broad.mit.edu	37	chr19	44273918	44273918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagttgtgcacgtgcttctCtgccttgttaaactccagct	7	14	9	11	1	1	0	0	0	1	0	3	1	2	0	2	0	5	5	2	0	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44273918C>T	ENST00000262888.3	-	5	1278	c.883G>A	c.(883-885)Gag>Aag	p.E295K		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	295	Calmodulin-binding.				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	ACGTGCTTCTCTGCCTTGTTA	0.577													43	69					0	0	0	0	T	44273918	C	T	44273918	3	4	328	1	0	0	0	0	1	0	0	0	8134	922	32	2	416	2	KCNN4	19	44273918	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	694411	44273918	14855065	2321	60535											
ZNF224	7767	broad.mit.edu	37	chr19	44605296	44605296	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttgcaggacatcaagcAttccacagggatactttcca	11	11	8	11	0	1	0	1	0	0	0	3	2	3	2	2	2	3	3	2	2	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44605296A>C	ENST00000336976.6	+	5	407	c.153A>C	c.(151-153)gcA>gcC	p.A51A		NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	51	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GACATCAAGCATTCCACAGGG	0.398													30	35					0	0	0	0	C	44605296	A	C	44605296	2	2	328	1	0	0	0	0	0	0	0	1	17873	204	8	5		5	ZNF224	19	44605296	Silent	SNP	A	TCGA-CV-7568-01A-11D-2229-08	331378	44605296	14523687	2322	60536											
ZNF233	353355	broad.mit.edu	37	chr19	44777859	44777859	+	Missense_Mutation	SNP	G	G	A																															cagatgtcaggtatatgcccGgagctccaaccagaactcct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44777859G>A	ENST00000391958.2	+	5	1173	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	ZNF233_ENST00000334152.1_Missense_Mutation_p.R331Q|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTATATGCCCGGAGCTCCAAC	0.527													13	32					0	0	0	0	A	44777859	G	A	44777859	3	1	328	1	0	0	0	0	1	0	0	0	17881	1116	39	1	1060	1	ZNF233	19	44777859	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	172563	44777859	14351124	2323	60537	699	2									
ZNF233	353355	broad.mit.edu	37	chr19	44777860	44777860	+	Silent	SNP	G	G	A																															agatgtcaggtatatgcccgGagctccaaccagaactcctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44777860G>A	ENST00000391958.2	+	5	1174	c.1047G>A	c.(1045-1047)cgG>cgA	p.R349R	ZNF233_ENST00000334152.1_Silent_p.R331R|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TATATGCCCGGAGCTCCAACC	0.527													13	32					0	0	0	0	A	44777860	G	A	44777860	2	1	328	1	0	0	0	0	0	0	0	1	17881	1161	41	2		2	ZNF233	19	44777860	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	44777860	14351123	2324	60538	699	2									
ZNF285	26974	broad.mit.edu	37	chr19	44891418	44891418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcgatgatggttgtgaaggGaagagctgcgcctgaagccc	9	8	15	9	2	0	4	0	3	0	1	1	6	0	5	2	2	3	2	2	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44891418G>A	ENST00000330997.4	-	4	1053	c.989C>T	c.(988-990)tCc>tTc	p.S330F	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S330F|ZNF285_ENST00000591679.1_Missense_Mutation_p.S337F	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GTTGTGAAGGGAAGAGCTGCG	0.473													32	61					0	0	0	0	A	44891418	G	A	44891418	3	1	328	1	0	0	0	0	1	0	0	0	17917	1174	41	2	787	2	ZNF285	19	44891418	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	113558	44891418	14237565	2325	60539											
PVR	5817	broad.mit.edu	37	chr19	45150650	45150650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagcatggccgtcttcCaccaaacgcagggccccagc	8	5	11	17	2	1	0	0	0	1	0	2	0	2	0	5	3	3	3	5	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:45150650C>T	ENST00000425690.3	+	2	534	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	PVR_ENST00000406449.4_Missense_Mutation_p.H79Y|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Missense_Mutation_p.H79Y|PVR_ENST00000344956.4_Missense_Mutation_p.H79Y	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	79	Ig-like V-type.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGCCGTCTTCCACCAAACGCA	0.622													10	17					0	0	0	0	T	45150650	C	T	45150650	3	4	328	1	0	0	0	0	1	0	0	0	12919	594	21	4	241	4	PVR	19	45150650	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	259232	45150650	13978333	2326	60540											
EXOC3L2	90332	broad.mit.edu	37	chr19	45716410	45716410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcctggccagccgggagaGggggaggcggcccaggaaga	8	1	22	10	2	0	2	0	0	0	2	0	5	0	4	4	8	1	0	4	8	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:45716410G>A	ENST00000413988.1	-	10	1187	c.1147C>T	c.(1147-1149)Ctc>Ttc	p.L383F	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000252482.3_Missense_Mutation_p.L383F	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	383										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		AGCCGGGAGAGGGGGAGGCGG	0.701													4	11					0	0	0	0	A	45716410	G	A	45716410	3	1	328	1	0	0	0	0	1	0	0	0	5342	1000	35	4	86	4	EXOC3L2	19	45716410	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	565760	45716410	13412573	2327	60541											
PPP1R13L	10848	broad.mit.edu	37	chr19	45885896	45885896	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgaccgactcgccctcgcgGaaggacagctcgtccccgaa	8	5	12	16	6	0	1	0	1	0	0	4	5	1	3	4	2	1	1	4	2	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:45885896G>A	ENST00000418234.2	-	12	2415	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F	PPP1R13L_ENST00000360957.5_Silent_p.F779F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	779	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCCCTCGCGGAAGGACAGCT	0.682													24	30					0	0	0	0	A	45885896	G	A	45885896	2	1	328	1	0	0	0	0	0	0	0	1	12434	1165	41	2		2	PPP1R13L	19	45885896	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	169486	45885896	13243087	2328	60542											
PPP1R13L	10848	broad.mit.edu	37	chr19	45900259	45900259	+	Missense_Mutation	SNP	G	G	A																															gccgtcggtggccgccttccGgggggaccctcggctgccga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:45900259G>A	ENST00000418234.2	-	4	334	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.R86W	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	86	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCCGCCTTCCGGGGGGACCCT	0.687													6	13					0	0	0	0	A	45900259	G	A	45900259	3	1	328	1	0	0	0	0	1	0	0	0	12434	1115	39	1	2270	1	PPP1R13L	19	45900259	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	14363	45900259	13228724	2329	60543	700	2									
PPP1R13L	10848	broad.mit.edu	37	chr19	45900260	45900260	+	Silent	SNP	G	G	A																															ccgtcggtggccgccttccgGggggaccctcggctgccgaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:45900260G>A	ENST00000418234.2	-	4	333	c.255C>T	c.(253-255)ccC>ccT	p.P85P	PPP1R13L_ENST00000360957.5_Silent_p.P85P	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	85	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCGCCTTCCGGGGGGACCCTC	0.682													6	13					0	0	0	0	A	45900260	G	A	45900260	2	1	328	1	0	0	0	0	0	0	0	1	12434	1219	43	4		4	PPP1R13L	19	45900260	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	45900260	13228723	2330	60544	700	2									
IRF2BP1	26145	broad.mit.edu	37	chr19	46387762	46387762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggccacattcttcagggcgGcaatgggcgagggcacacca	9	5	14	13	3	2	0	1	0	1	0	2	1	2	0	2	5	0	2	2	5	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:46387762G>A	ENST00000302165.3	-	1	1614	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CTTCAGGGCGGCAATGGGCGA	0.721													17	22					0	0	0	0	A	46387762	G	A	46387762	3	1	328	1	0	0	0	0	1	0	0	0	7882	1203	42	4	487	4	IRF2BP1	19	46387762	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	487502	46387762	12741221	2331	60545											
FKRP	79147	broad.mit.edu	37	chr19	47259974	47259974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtggcccttctaccccCgcaatggcgtcatgaccaag	8	8	9	16	2	2	1	1	1	1	0	2	1	2	1	5	2	1	1	5	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:47259974C>T	ENST00000318584.5	+	4	1564	c.1267C>T	c.(1267-1269)Cgc>Tgc	p.R423C	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.R423C	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	423						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CTTCTACCCCCGCAATGGCGT	0.637													4	7					0	0	0	0	T	47259974	C	T	47259974	3	4	328	1	0	0	0	0	1	0	0	0	5962	652	23	1	1269	1	FKRP	19	47259974	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	872212	47259974	11869009	2332	60546											
SLC1A5	6510	broad.mit.edu	37	chr19	47290723	47290723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttcggcactgcccgcggctCccacggaggcgttgatggcg	4	8	15	14	6	0	1	0	1	0	0	2	2	1	2	2	5	1	3	2	5	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:47290723C>T	ENST00000542575.2	-	1	1128	c.500G>A	c.(499-501)gGa>gAa	p.G167E		NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	167					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GCCCGCGGCTCCCACGGAGGC	0.692													4	6					0	0	0	0	T	47290723	C	T	47290723	3	4	328	1	0	0	0	0	1	0	0	0	14523	855	30	2	1164	2	SLC1A5	19	47290723	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	30749	47290723	11838260	2333	60547											
ARHGAP35	2909	broad.mit.edu	37	chr19	47503786	47503786	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccgagccccccggcgcCaggcccagctccccctctgc	5	4	9	23	3	2	0	1	0	1	0	3	1	3	0	8	2	3	1	8	2	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:47503786C>T	ENST00000404338.3	+	6	4341	c.4341C>T	c.(4339-4341)gcC>gcT	p.A1447A		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1447	Pro-rich.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CCCCCGGCGCCAGGCCCAGCT	0.642													26	59					0	0	0	0	T	47503786	C	T	47503786	2	4	328	1	0	0	0	0	0	0	0	1	6845	581	21	4		4	ARHGAP35	19	47503786	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	213063	47503786	11625197	2334	60548											
NPAS1	4861	broad.mit.edu	37	chr19	47539225	47539225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctccttcgccggcaggtgGagatgacgggcagcagcgtc	6	6	15	14	4	0	2	0	1	0	1	3	3	1	2	3	4	2	3	3	4	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:47539225G>A	ENST00000602212.1	+	6	746	c.526G>A	c.(526-528)Gag>Aag	p.E176K	NPAS1_ENST00000439365.2_5'UTR|NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Missense_Mutation_p.E176K			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	176	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CCGGCAGGTGGAGATGACGGG	0.682											OREG0025586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	7					0	0	0	0	A	47539225	G	A	47539225	3	1	328	1	0	0	0	0	1	0	0	0	10632	1175	41	2	544	2	NPAS1	19	47539225	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	35439	47539225	11589758	2335	60549											
TPRX1	284355	broad.mit.edu	37	chr19	48305272	48305272	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggggctctgaggccataaGggggctggggctgggagtga	6	7	21	7	1	1	2	0	2	1	0	2	3	1	3	1	8	0	3	1	8	1	1	rs149923413		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:48305272G>A	ENST00000535759.1	-	4	1286	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P	TPRX1_ENST00000322175.3_Silent_p.P332P|TPRX1_ENST00000543508.1_Silent_p.P322P			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	332						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GAGGCCATAAGggggctgggg	0.622													18	32					0	0	0	0	A	48305272	G	A	48305272	2	1	328	1	0	0	0	0	0	0	0	1	16517	987	35	4		4	TPRX1	19	48305272	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	766047	48305272	10823711	2336	60550											
CABP5	56344	broad.mit.edu	37	chr19	48543904	48543904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagctcaatcagttccatctCcgtgggcatgtaacccatcg	9	10	9	13	2	3	0	2	0	1	0	6	1	4	0	3	1	2	4	3	1	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:48543904C>T	ENST00000293255.2	-	3	326	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	66	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		AGTTCCATCTCCGTGGGCATG	0.542													29	38					0	0	0	0	T	48543904	C	T	48543904	3	4	328	1	0	0	0	0	1	0	0	0	2559	864	30	2	341	2	CABP5	19	48543904	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	238632	48543904	10585079	2337	60551											
LMTK3	114783	broad.mit.edu	37	chr19	49000676	49000676	+	Missense_Mutation	SNP	G	G	A																															tctgctcgctgttcccctgaGggggtcccaagtccaagaat																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49000676G>A	ENST00000600059.1	-	11	3877	c.3650C>T	c.(3649-3651)cCt>cTt	p.P1217L	LMTK3_ENST00000270238.3_Missense_Mutation_p.P1246L					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GTTCCCCTGAGGGGGTCCCAA	0.667													16	49					0	0	0	0	A	49000676	G	A	49000676	3	1	328	1	0	0	0	0	1	0	0	0	8915	1000	35	4	752	4	LMTK3	19	49000676	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	456772	49000676	10128307	2338	60552	701	2									
LMTK3	114783	broad.mit.edu	37	chr19	49000677	49000677	+	Missense_Mutation	SNP	G	G	A																															ctgctcgctgttcccctgagGgggtcccaagtccaagaata																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49000677G>A	ENST00000600059.1	-	11	3876	c.3649C>T	c.(3649-3651)Cct>Tct	p.P1217S	LMTK3_ENST00000270238.3_Missense_Mutation_p.P1246S					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TTCCCCTGAGGGGGTCCCAAG	0.672													16	49					0	0	0	0	A	49000677	G	A	49000677	3	1	328	1	0	0	0	0	1	0	0	0	8915	1232	43	4	753	4	LMTK3	19	49000677	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	49000677	10128306	2339	60553	701	2									
DBP	1628	broad.mit.edu	37	chr19	49134201	49134201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcagggcgttctccttctCcaggaaggccgcccgcaccg	6	6	12	17	4	2	0	0	0	2	0	4	1	2	1	5	3	1	3	5	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49134201C>T	ENST00000222122.5	-	4	1314	c.871G>A	c.(871-873)Gag>Aag	p.E291K	DBP_ENST00000593500.1_Missense_Mutation_p.E89K|DBP_ENST00000599385.1_Missense_Mutation_p.E89K	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	291	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TTCTCCTTCTCCAGGAAGGCC	0.672													11	14					0	0	0	0	T	49134201	C	T	49134201	3	4	328	1	0	0	0	0	1	0	0	0	4289	864	30	2	110	2	DBP	19	49134201	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	133524	49134201	9994782	2340	60554											
GYS1	2997	broad.mit.edu	37	chr19	49485572	49485572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtcagcacccttgttggaGaactcatagcggccggcgat	9	8	12	12	4	2	1	2	0	0	1	2	3	2	1	2	3	3	2	2	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49485572G>A	ENST00000540532.1	-	5	898	c.644C>T	c.(643-645)tCt>tTt	p.S215F	GYS1_ENST00000263276.6_Silent_p.F270F|GYS1_ENST00000323798.3_Silent_p.F334F|GYS1_ENST00000541188.1_Silent_p.F254F|GYS1_ENST00000544287.1_5'UTR			P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	0					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CCTTGTTGGAGAACTCATAGC	0.537													41	58					0	0	0	0	A	49485572	G	A	49485572	3	1	328	1	0	0	0	0	1	0	0	0	6962	933	33	2	1251	2	GYS1	19	49485572	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	351371	49485572	9643411	2341	60555											
GYS1	2997	broad.mit.edu	37	chr19	49494739	49494739	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccgtgtagatgccaccCactgtgggcccaagcgtgtg	8	7	13	13	2	0	1	0	0	0	1	0	1	0	1	4	1	3	2	4	1	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49494739C>T	ENST00000323798.3	-	2	316	c.118_splice	c.e2-1	p.V40_splice	GYS1_ENST00000263276.6_Splice_Site_p.V40_splice|GYS1_ENST00000541188.1_Intron|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000457974.1_5'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	40					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AGATGCCACCCACTGTGGGCC	0.677													67	110					0	0	0	0	T	49494739	C	T	49494739	5	4	328	1	0	0	0	0	0	0	1	0	6962	608	21	4	2153	4	GYS1	19	49494739	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	9167	49494739	9634244	2342	60556											
LHB	3972	broad.mit.edu	37	chr19	49519378	49519378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcacaggtcaaggggtggtCtttgggacccccacagtcag	8	8	14	11	0	4	0	3	0	1	0	4	1	4	1	2	5	0	0	2	5	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49519378C>T	ENST00000221421.2	-	3	372	c.373G>A	c.(373-375)Gac>Aac	p.D125N		NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	125					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	AAGGGGTGGTCTTTGGGACCC	0.652													38	62					0	0	0	0	T	49519378	C	T	49519378	3	4	328	1	0	0	0	0	1	0	0	0	8815	913	32	2	56	2	LHB	19	49519378	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	24639	49519378	9609605	2343	60557											
LHB	3972	broad.mit.edu	37	chr19	49519457	49519457	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacagggaaggagaccacGgggtccacaccacgcgggca	11	1	15	14	3	0	1	0	0	0	1	1	3	1	2	4	5	0	1	4	5	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49519457G>A	ENST00000221421.2	-	3	293	c.294C>T	c.(292-294)ccC>ccT	p.P98P		NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	98					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	AGGAGACCACGGGGTCCACAC	0.677													39	70					0	0	0	0	A	49519457	G	A	49519457	2	1	328	1	0	0	0	0	0	0	0	1	8815	1103	39	1		1	LHB	19	49519457	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	79	49519457	9609526	2344	60558											
TRPM4	54795	broad.mit.edu	37	chr19	49692330	49692330	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacgcccgtgccttcttTgcccaggatggggtacaggt	5	10	14	12	2	1	1	0	1	1	0	1	2	1	2	3	4	3	2	3	4	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49692330T>C	ENST00000252826.5	+	14	2127	c.2001T>C	c.(1999-2001)ttT>ttC	p.F667F	TRPM4_ENST00000427978.2_Silent_p.F667F|TRPM4_ENST00000355712.5_Silent_p.F313F	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	667					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GTGCCTTCTTTGCCCAGGATG	0.622													25	46					0	0	0	0	C	49692330	T	C	49692330	2	2	328	1	0	0	0	0	0	0	0	1	16683	1809	63	5		5	TRPM4	19	49692330	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	172873	49692330	9436653	2345	60559											
CD37	951	broad.mit.edu	37	chr19	49842699	49842699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccccgcccccacccgcgatCggccctaaatccctagatgg	7	5	9	20	4	0	1	0	0	0	1	2	2	1	1	7	2	0	0	7	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49842699C>T	ENST00000535669.2	+	7	911	c.797C>T	c.(796-798)tCg>tTg	p.S266L	CD37_ENST00000426897.2_Intron|CD37_ENST00000323906.4_Intron|CD37_ENST00000598095.1_Missense_Mutation_p.S198L|CTC-301O7.4_ENST00000358234.4_lincRNA			P11049	CD37_HUMAN	CD37 molecule	0						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CACCCGCGATCGGCCCTAAAT	0.652													49	74					0	0	0	0	T	49842699	C	T	49842699	3	4	328	1	0	0	0	0	1	0	0	0	3037	899	31	1		1	CD37	19	49842699	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	150369	49842699	9286284	2346	60560											
PRR12	57479	broad.mit.edu	37	chr19	50099897	50099897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agagccctccgcccccacctCccacggcccagtctacccag	7	4	7	23	2	1	1	0	0	1	1	3	1	3	1	8	1	2	0	8	1	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50099897C>T	ENST00000418929.2	+	4	2317	c.2305C>T	c.(2305-2307)Ccc>Tcc	p.P769S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	476							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)		GCCCCCACCTCCCACGGCCCA	0.711													15	15					0	0	0	0	T	50099897	C	T	50099897	3	4	328	1	0	0	0	0	1	0	0	0	12664	855	30	2	2319	2	PRR12	19	50099897	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	257198	50099897	9029086	2347	60561											
PRR12	57479	broad.mit.edu	37	chr19	50099935	50099935	+	Silent	SNP	C	C	T																															cagcccactccccatggcctCcttctggaggccgggggccc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50099935C>T	ENST00000418929.2	+	4	2355	c.2343C>T	c.(2341-2343)ctC>ctT	p.L781L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	476							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)		CCCATGGCCTCCTTCTGGAGG	0.711													12	24					0	0	0	0	T	50099935	C	T	50099935	2	4	328	1	0	0	0	0	0	0	0	1	12664	842	30	2		2	PRR12	19	50099935	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	38	50099935	9029048	2348	60562	702	2									
PRR12	57479	broad.mit.edu	37	chr19	50099936	50099936	+	Missense_Mutation	SNP	C	C	T																															agcccactccccatggcctcCttctggaggccgggggccct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50099936C>T	ENST00000418929.2	+	4	2356	c.2344C>T	c.(2344-2346)Ctt>Ttt	p.L782F		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	477							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)		CCATGGCCTCCTTCTGGAGGC	0.716													12	24					0	0	0	0	T	50099936	C	T	50099936	3	4	328	1	0	0	0	0	1	0	0	0	12664	681	24	4	2358	4	PRR12	19	50099936	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	50099936	9029047	2349	60563	702	2									
MED25	81857	broad.mit.edu	37	chr19	50335577	50335577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccgcagaccaccctgggcCctttgttccggaactcaagg	7	8	10	16	2	1	1	1	0	0	1	3	2	3	2	5	3	1	2	5	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50335577C>T	ENST00000312865.6	+	13	1440	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S	MED25_ENST00000538643.1_Missense_Mutation_p.P250S	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	463	Interaction with CREBBP.|Interaction with VP16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CACCCTGGGCCCTTTGTTCCG	0.607													5	9					0	0	0	0	T	50335577	C	T	50335577	3	4	328	1	0	0	0	0	1	0	0	0	9512	623	22	4	1437	4	MED25	19	50335577	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	235641	50335577	8793406	2350	60564											
NUP62	23636	broad.mit.edu	37	chr19	50412009	50412009	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgacctgggtggcctgctgGaggaagtgccgctcctggtc	4	10	16	11	1	0	1	0	1	0	0	2	3	1	3	4	5	2	2	4	5	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50412009G>A	ENST00000596217.1	-	2	2943	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000352066.3_Silent_p.L352L|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000597029.1_Silent_p.L352L|NUP62_ENST00000422090.2_Silent_p.L352L|NUP62_ENST00000413454.1_Silent_p.L352L|IL4I1_ENST00000595948.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	352					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGGCCTGCTGGAGGAAGTGCC	0.632													53	98					0	0	0	0	A	50412009	G	A	50412009	2	1	328	1	0	0	0	0	0	0	0	1	10839	1161	41	2		2	NUP62	19	50412009	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	76432	50412009	8716974	2351	60565											
ZNF473	25888	broad.mit.edu	37	chr19	50548313	50548313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaggattctgttcaggaaGgggagaaaccatatcaatgt	14	9	12	6	0	3	1	2	0	1	1	3	4	3	3	1	4	2	2	1	4	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50548313G>A	ENST00000595661.1	+	6	1108	c.613G>A	c.(613-615)Ggg>Agg	p.G205R	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.G205R|ZNF473_ENST00000445728.3_Missense_Mutation_p.G193R|ZNF473_ENST00000391821.2_Missense_Mutation_p.G205R|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	205					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGTTCAGGAAGGGGAGAAACC	0.463													33	45					0	0	0	0	A	50548313	G	A	50548313	3	1	328	1	0	0	0	0	1	0	0	0	18026	1000	35	4	627	4	ZNF473	19	50548313	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	136304	50548313	8580670	2352	60566											
ZNF473	25888	broad.mit.edu	37	chr19	50549887	50549887	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcactcaggtgagaagccCtatgtatgtgattactgcgg	10	12	11	8	1	2	2	2	2	0	1	2	3	2	2	1	2	3	1	1	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50549887C>T	ENST00000595661.1	+	6	2682	c.2187C>T	c.(2185-2187)ccC>ccT	p.P729P	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.P729P|ZNF473_ENST00000445728.3_Silent_p.P717P|ZNF473_ENST00000391821.2_Silent_p.P729P|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	729					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTGAGAAGCCCTATGTATGTG	0.493											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	53					0	0	0	0	T	50549887	C	T	50549887	2	4	328	1	0	0	0	0	0	0	0	1	18026	668	24	4		4	ZNF473	19	50549887	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1574	50549887	8579096	2353	60567											
SIGLEC9	27180	broad.mit.edu	37	chr19	51631689	51631689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtgaggtcctgcaggaaGaaatcggcaaggccagcagc	13	4	15	9	1	0	3	0	1	0	2	2	4	1	4	2	4	3	3	2	4	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:51631689G>A	ENST00000440804.3	+	6	1192	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	SIGLEC9_ENST00000250360.3_Silent_p.K375K	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	375					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CCTGCAGGAAGAAATCGGCAA	0.577													13	40					0	0	0	0	A	51631689	G	A	51631689	2	1	328	1	0	0	0	0	0	0	0	1	14403	933	33	2		2	SIGLEC9	19	51631689	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1081802	51631689	7497294	2354	60568											
SIGLEC8	27181	broad.mit.edu	37	chr19	51961241	51961241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcaactgtgatttgtaaCtccatttcatgcttcctctc	9	17	4	11	0	3	1	2	1	1	0	6	1	5	1	2	0	3	2	2	0	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:51961241C>T	ENST00000321424.3	-	1	467	c.401G>A	c.(400-402)aGt>aAt	p.S134N	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S134N|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S134N	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	134					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGATTTGTAACTCCATTTCAT	0.502													43	87					0	0	0	0	T	51961241	C	T	51961241	3	4	328	1	0	0	0	0	1	0	0	0	14402	565	20	4	1126	4	SIGLEC8	19	51961241	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	329552	51961241	7167742	2355	60569											
SIGLEC8	27181	broad.mit.edu	37	chr19	51961433	51961433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtcttggtatggtctgtctCctgcccggaaccagtagcca	6	11	11	13	2	3	0	0	0	3	0	4	1	3	1	4	3	3	2	4	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:51961433C>T	ENST00000321424.3	-	1	275	c.209G>A	c.(208-210)gGa>gAa	p.G70E	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G70E|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G70E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	70	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGTCTGTCTCCTGCCCGGAA	0.592													43	62					0	0	0	0	T	51961433	C	T	51961433	3	4	328	1	0	0	0	0	1	0	0	0	14402	855	30	2	1318	2	SIGLEC8	19	51961433	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	192	51961433	7167550	2356	60570											
CEACAM18	729767	broad.mit.edu	37	chr19	51983645	51983645	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaatcttcatcacccaaacCctggggatcaagggatatcg	13	8	8	12	1	4	0	3	0	1	0	5	2	4	2	2	3	1	0	2	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:51983645C>T	ENST00000396477.4	+	2	132	c.111C>T	c.(109-111)acC>acT	p.T37T	CEACAM18_ENST00000451626.1_Silent_p.T98T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	98						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCACCCAAACCCTGGGGATCA	0.527													4	10					0	0	0	0	T	51983645	C	T	51983645	2	4	328	1	0	0	0	0	0	0	0	1	3218	610	22	4		4	CEACAM18	19	51983645	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	22212	51983645	7145338	2357	60571											
CEACAM18	729767	broad.mit.edu	37	chr19	51986356	51986356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcggctcccaagtggaaatGgagtgtatctgctattcctt	9	13	10	9	1	1	0	0	0	1	0	4	2	3	2	2	3	1	3	2	3	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:51986356G>A	ENST00000396477.4	+	4	780	c.759G>A	c.(757-759)atG>atA	p.M253I	CEACAM18_ENST00000451626.1_Missense_Mutation_p.M314I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	314						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AAGTGGAAATGGAGTGTATCT	0.502													71	117					0	0	0	0	A	51986356	G	A	51986356	3	1	328	1	0	0	0	0	1	0	0	0	3218	1348	47	4	960	4	CEACAM18	19	51986356	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2711	51986356	7142627	2358	60572											
SIGLEC6	946	broad.mit.edu	37	chr19	52034538	52034538	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgctcagggagcagttcttCcttctgggatcccagaggag	8	10	13	10	0	3	1	1	0	2	1	5	4	5	4	2	3	2	3	2	3	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52034538C>T	ENST00000346477.3	-	2	371	c.303G>A	c.(301-303)agG>agA	p.R101R	SIGLEC6_ENST00000359982.4_Silent_p.R101R|SIGLEC6_ENST00000425629.3_Silent_p.R101R|SIGLEC6_ENST00000343300.4_Silent_p.R101R|SIGLEC6_ENST00000391797.3_Silent_p.R101R|SIGLEC6_ENST00000436458.1_Silent_p.R65R	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	101	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGCAGTTCTTCCTTCTGGGAT	0.537													26	59					0	0	0	0	T	52034538	C	T	52034538	2	4	328	1	0	0	0	0	0	0	0	1	14400	854	30	2		2	SIGLEC6	19	52034538	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	48182	52034538	7094445	2359	60573											
SIGLEC5	8778	broad.mit.edu	37	chr19	52129352	52129352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcccagctgcttgcttcCtgcgggctttcactctaagg	4	13	10	14	1	3	0	1	0	2	0	5	0	4	0	2	2	4	4	2	2	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52129352C>T	ENST00000222107.4	-	8	1535	c.1397G>A	c.(1396-1398)aGg>aAg	p.R466K	SIGLEC5_ENST00000534261.2_Missense_Mutation_p.R466K|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.R466K|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.R466K|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.R466K			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	466					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGCTTGCTTCCTGCGGGCTTT	0.527													19	39					0	0	0	0	T	52129352	C	T	52129352	3	4	328	1	0	0	0	0	1	0	0	0	14399	681	24	4	266	4	SIGLEC5	19	52129352	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	94814	52129352	6999631	2360	60574											
FPR1	2357	broad.mit.edu	37	chr19	52249646	52249646	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgaaccggatgatgcctCtcaccgtcaacatggcaacg	11	8	10	12	3	2	3	2	3	1	0	3	4	2	4	3	2	4	1	3	2	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52249646C>G	ENST00000595042.1	-	3	743	c.602G>C	c.(601-603)aGa>aCa	p.R201T	FPR1_ENST00000304748.4_Missense_Mutation_p.R201T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	201					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GATGATGCCTCTCACCGTCAA	0.507													38	68					0	0	0	0	G	52249646	C	G	52249646	3	3	328	1	0	0	0	0	1	0	0	0	6085	913	32	2	454	2	FPR1	19	52249646	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	120294	52249646	6879337	2361	60575											
FPR1	2357	broad.mit.edu	37	chr19	52250210	52250210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagatacagcaggtgtccctCcagagatgttcgtggggaga	10	8	14	9	1	0	3	0	0	0	3	3	5	2	3	2	3	2	2	2	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52250210C>T	ENST00000595042.1	-	3	179	c.38G>A	c.(37-39)gGa>gAa	p.G13E	FPR1_ENST00000304748.4_Missense_Mutation_p.G13E	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	13					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AGGTGTCCCTCCAGAGATGTT	0.498													15	12					0	0	0	0	T	52250210	C	T	52250210	3	4	328	1	0	0	0	0	1	0	0	0	6085	855	30	2	1018	2	FPR1	19	52250210	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	564	52250210	6878773	2362	60576											
FPR3	2359	broad.mit.edu	37	chr19	52327032	52327032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttctccattcctctgaatGaaactgaggaggtgctccct	9	12	8	12	0	2	3	0	3	2	0	5	4	4	4	3	2	2	1	3	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52327032G>A	ENST00000339223.4	+	2	210	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	FPR3_ENST00000595991.1_Missense_Mutation_p.E11K	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	11					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TCCTCTGAATGAAACTGAGGA	0.493													17	33					0	0	0	0	A	52327032	G	A	52327032	3	1	328	1	0	0	0	0	1	0	0	0	6087	1291	45	2	33	2	FPR3	19	52327032	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	76822	52327032	6801951	2363	60577											
ZNF350	59348	broad.mit.edu	37	chr19	52468506	52468506	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcgttacagccatagggTctctctcctgtatgagtcct	7	13	8	13	1	2	1	0	1	2	0	6	1	3	1	3	1	2	2	3	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52468506T>C	ENST00000243644.4	-	5	1427	c.1200A>G	c.(1198-1200)agA>agG	p.R400R	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	400					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AGCCATAGGGTCTCTCTCCTG	0.453													17	28					0	0	0	0	C	52468506	T	C	52468506	2	2	328	1	0	0	0	0	0	0	0	1	17958	1664	58	5		5	ZNF350	19	52468506	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	141474	52468506	6660477	2364	60578											
ZNF614	80110	broad.mit.edu	37	chr19	52519834	52519834	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcatatatagggtttctcCcctgtatgagttcgctgatg	7	15	10	9	1	1	2	0	2	1	0	3	2	1	2	2	1	1	5	2	1	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52519834C>T	ENST00000270649.6	-	5	1561	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGGTTTCTCCCCTGTATGAG	0.423													52	77					0	0	0	0	T	52519834	C	T	52519834	2	4	328	1	0	0	0	0	0	0	0	1	18134	610	22	4		4	ZNF614	19	52519834	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	51328	52519834	6609149	2365	60579											
ZNF766	90321	broad.mit.edu	37	chr19	52794329	52794329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaattcacaccttgcaaatCatcagagaatccacactgga	16	8	6	11	0	3	2	3	0	0	2	4	4	4	3	2	1	1	1	2	1	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52794329C>T	ENST00000439461.1	+	4	1328	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y	CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Missense_Mutation_p.H444Y|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Missense_Mutation_p.H444Y	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CCTTGCAAATCATCAGAGAAT	0.413													30	48					0	0	0	0	T	52794329	C	T	52794329	3	4	328	1	0	0	0	0	1	0	0	0	18234	826	29	2	1299	2	ZNF766	19	52794329	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	274495	52794329	6334654	2366	60580											
ZNF480	147657	broad.mit.edu	37	chr19	52825847	52825847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttcagcccatcttgtaatCcacactggagagaagcctta	11	11	7	12	0	2	1	1	0	1	1	3	3	3	2	3	1	2	1	3	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52825847C>T	ENST00000595962.1	+	5	1410	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Silent_p.I405I|ZNF480_ENST00000335090.6_Silent_p.I371I|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ATCTTGTAATCCACACTGGAG	0.408													34	53					0	0	0	0	T	52825847	C	T	52825847	2	4	328	1	0	0	0	0	0	0	0	1	18030	845	30	2		2	ZNF480	19	52825847	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	31518	52825847	6303136	2367	60581											
ZNF600	162966	broad.mit.edu	37	chr19	53270695	53270695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaattgattaccaattttaCctttgatctgaattatgtgg	12	17	6	6	0	1	3	0	3	1	0	1	3	1	3	2	1	2	0	2	1	6	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53270695C>T	ENST00000338230.3	-	3	581	c.314G>A	c.(313-315)gGt>gAt	p.G105D		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACCAATTTTACCTTTGATCTG	0.393													66	92					0	0	0	0	T	53270695	C	T	53270695	3	4	328	1	0	0	0	0	1	0	0	0	18125	507	18	4	1858	4	ZNF600	19	53270695	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	444848	53270695	5858288	2368	60582											
ZNF28	7576	broad.mit.edu	37	chr19	53303906	53303906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcctcttatgtctttcaaGatgtgatttgcgactgaaaa	12	15	7	7	1	3	3	1	2	2	1	4	4	4	3	1	0	1	0	1	0	5	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53303906G>A	ENST00000438150.2	-	2	1926	c.1033C>T	c.(1033-1035)Ctt>Ttt	p.L345F	ZNF28_ENST00000360272.4_Missense_Mutation_p.L345F|ZNF28_ENST00000457749.2_Missense_Mutation_p.L398F|ZNF28_ENST00000414252.2_Missense_Mutation_p.L345F			P17035	ZNF28_HUMAN	zinc finger protein 28	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGTCTTTCAAGATGTGATTTG	0.378													43	81					0	0	0	0	A	53303906	G	A	53303906	3	1	328	1	0	0	0	0	1	0	0	0	17908	942	33	2	968	2	ZNF28	19	53303906	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	33211	53303906	5825077	2369	60583											
ZNF160	90338	broad.mit.edu	37	chr19	53572108	53572108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttgtaaggtttctctccaGaatgaattccccgatgactt	10	14	7	10	1	1	3	0	2	1	1	4	4	3	3	3	1	0	2	3	1	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53572108G>A	ENST00000601421.1	-	3	2447	c.1571C>T	c.(1570-1572)tCt>tTt	p.S524F	ZNF160_ENST00000429604.1_Missense_Mutation_p.S560F|ZNF160_ENST00000599056.1_Missense_Mutation_p.S560F|ZNF160_ENST00000418871.1_Missense_Mutation_p.S560F			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	560					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTCTCTCCAGAATGAATTCC	0.403													40	70					0	0	0	0	A	53572108	G	A	53572108	3	1	328	1	0	0	0	0	1	0	0	0	17834	942	33	2	781	2	ZNF160	19	53572108	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	268202	53572108	5556875	2370	60584											
ZNF160	90338	broad.mit.edu	37	chr19	53572905	53572905	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttagatttgaacgaacagtAaaggttttgccgcactcact	12	12	9	8	2	1	2	1	1	0	1	1	3	1	2	1	1	3	4	1	1	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53572905A>G	ENST00000601421.1	-	3	1650	c.774T>C	c.(772-774)ttT>ttC	p.F258F	ZNF160_ENST00000429604.1_Silent_p.F294F|ZNF160_ENST00000599056.1_Silent_p.F294F|ZNF160_ENST00000418871.1_Silent_p.F294F			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	294					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AACGAACAGTAAAGGTTTTGC	0.418													43	69					0	0	0	0	G	53572905	A	G	53572905	2	3	328	1	0	0	0	0	0	0	0	1	17834	359	13	5		5	ZNF160	19	53572905	Silent	SNP	A	TCGA-CV-7568-01A-11D-2229-08	797	53572905	5556078	2371	60585											
ZNF347	84671	broad.mit.edu	37	chr19	53643936	53643936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacggacactaaaggctttCccacactgattacactcata	14	9	6	12	1	1	1	1	1	0	0	2	3	2	2	1	2	2	1	1	2	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53643936C>T	ENST00000452676.2	-	5	2574	c.2148G>A	c.(2146-2148)ggG>ggA	p.G716G	ZNF347_ENST00000334197.7_Silent_p.G715G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G716G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TAAAGGCTTTCCCACACTGAT	0.423													47	87					0	0	0	0	T	53643936	C	T	53643936	2	4	328	1	0	0	0	0	0	0	0	1	17956	842	30	2		2	ZNF347	19	53643936	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	71031	53643936	5485047	2372	60586											
ZNF665	79788	broad.mit.edu	37	chr19	53668207	53668207	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactcattacacttgtaaggTttttctccagtatgaactct	10	16	5	10	0	3	1	1	1	2	0	4	1	3	1	1	1	2	3	1	1	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53668207T>C	ENST00000600412.1	-	2	1456	c.1341A>G	c.(1339-1341)aaA>aaG	p.K447K	ZNF665_ENST00000396424.3_Silent_p.K512K			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACTTGTAAGGTTTTTCTCCAG	0.378													49	73					0	0	0	0	C	53668207	T	C	53668207	2	2	328	1	0	0	0	0	0	0	0	1	18168	1722	60	5		5	ZNF665	19	53668207	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	24271	53668207	5460776	2373	60587											
ZNF665	79788	broad.mit.edu	37	chr19	53668314	53668314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctccagaatgaattccccGatgacttgcaaggtgtgaat	11	11	9	10	1	1	4	0	3	1	1	3	5	2	4	3	1	1	1	3	1	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53668314G>A	ENST00000600412.1	-	2	1349	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	ZNF665_ENST00000396424.3_Missense_Mutation_p.R477W			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATTCCCCGATGACTTGCA	0.423													27	49					0	0	0	0	A	53668314	G	A	53668314	3	1	328	1	0	0	0	0	1	0	0	0	18168	1057	37	1	611	1	ZNF665	19	53668314	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	107	53668314	5460669	2374	60588											
ZNF331	55422	broad.mit.edu	37	chr19	54081122	54081122	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaaaacgcacagtggggcGaaatcctacgaatgtaagga	16	5	12	8	3	0	1	0	0	0	1	1	4	1	2	1	3	2	2	1	3	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54081122G>A	ENST00000253144.9	+	7	2641	c.1308G>A	c.(1306-1308)gcG>gcA	p.A436A	ZNF331_ENST00000511154.1_Silent_p.A436A|ZNF331_ENST00000513999.1_Silent_p.A436A|ZNF331_ENST00000449416.1_Silent_p.A436A|ZNF331_ENST00000512387.1_Silent_p.A436A|ZNF331_ENST00000511593.2_Silent_p.A436A|ZNF331_ENST00000411977.2_Silent_p.A436A	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ACAGTGGGGCGAAATCCTACG	0.488			T	?	follicular thyroid adenoma								17	20					0	0	0	0	A	54081122	G	A	54081122	2	1	328	1	0	0	0	0	0	0	0	1	17944	1045	37	1		1	ZNF331	19	54081122	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	412808	54081122	5047861	2375	60589											
DPRX	503834	broad.mit.edu	37	chr19	54137815	54137815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcattcacacaggaaacGaaccatgttcactaagaagc	16	7	8	10	1	2	1	2	0	0	1	2	4	2	2	1	1	4	2	1	1	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54137815G>A	ENST00000376650.1	+	2	110	c.59G>A	c.(58-60)cGa>cAa	p.R20Q		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	20						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACAGGAAACGAACCATGTTC	0.433													62	85					0	0	0	0	A	54137815	G	A	54137815	3	1	328	1	0	0	0	0	1	0	0	0	4774	1058	37	1	65	1	DPRX	19	54137815	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	56693	54137815	4991168	2376	60590											
PRKCG	5582	broad.mit.edu	37	chr19	54407892	54407892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccctccactttgatagcctCccttcgatggggaggacgag	7	9	11	14	2	0	1	0	1	0	0	3	5	2	3	5	3	1	0	5	3	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54407892C>T	ENST00000263431.3	+	16	1942	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Missense_Mutation_p.P554S	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	554	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TTGATAGCCTCCCTTCGATGG	0.582													4	16					0	0	0	0	T	54407892	C	T	54407892	3	4	328	1	0	0	0	0	1	0	0	0	12592	855	30	2	1722	2	PRKCG	19	54407892	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	270077	54407892	4721091	2377	60591											
LILRB2	10288	broad.mit.edu	37	chr19	54783921	54783921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcccacagggtgggcttgGgaatggtccctggaaggaaa	10	6	16	9	0	0	0	0	0	0	0	1	3	1	3	2	6	1	1	2	6	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54783921G>A	ENST00000391748.1	-	4	207	c.80C>T	c.(79-81)cCc>cTc	p.P27L	LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000391746.1_Missense_Mutation_p.P27L|LILRB2_ENST00000391749.4_Missense_Mutation_p.P27L|LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000314446.5_Missense_Mutation_p.P27L	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	27	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTGGGCTTGGGAATGGTCCC	0.577													49	74					0	0	0	0	A	54783921	G	A	54783921	3	1	328	1	0	0	0	0	1	0	0	0	8845	1232	43	4	1760	4	LILRB2	19	54783921	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	376029	54783921	4345062	2378	60592											
LILRA3	11026	broad.mit.edu	37	chr19	54802123	54802123	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccccctccttggtcaaaagGaaagtgtgcatccctccctg	8	9	9	15	0	1	0	1	0	0	0	4	1	4	1	5	2	1	1	5	2	3	1	rs11574608		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54802123G>A	ENST00000391745.1	-	10	1432	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	LILRA3_ENST00000391744.3_Silent_p.F291F|LILRA3_ENST00000251390.3_Silent_p.F355F					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGTCAAAAGGAAAGTGTGCA	0.582													38	57					0	0	0	0	A	54802123	G	A	54802123	2	1	328	1	0	0	0	0	0	0	0	1	8840	1165	41	2		2	LILRA3	19	54802123	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	18202	54802123	4326860	2379	60593											
KIR3DL3	115653	broad.mit.edu	37	chr19	55247519	55247519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagagaaaaatcactcgcCcttctcagaggcccaagaca	15	5	7	14	1	2	3	2	0	1	3	4	4	2	3	2	1	0	0	2	1	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:55247519C>T	ENST00000291860.1	+	8	1207	c.1189C>T	c.(1189-1191)Cct>Tct	p.P397S	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	397						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		AATCACTCGCCCTTCTCAGAG	0.507													62	18					0	0	0	0	T	55247519	C	T	55247519	3	4	328	1	0	0	0	0	1	0	0	0	8374	623	22	4	1219	4	KIR3DL3	19	55247519	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	445396	55247519	3881464	2380	60594											
BRSK1	84446	broad.mit.edu	37	chr19	55820079	55820079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagcactcatgaccagccctCcgtgcaggccctggcaggtg	7	6	13	15	1	1	1	1	1	0	0	2	2	2	1	4	3	3	3	4	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:55820079C>T	ENST00000309383.1	+	18	2439	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	BRSK1_ENST00000590333.1_Missense_Mutation_p.S737F|BRSK1_ENST00000326848.7_Missense_Mutation_p.S416F	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	721					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GACCAGCCCTCCGTGCAGGCC	0.721													9	15					0	0	0	0	T	55820079	C	T	55820079	3	4	328	1	0	0	0	0	1	0	0	0	1531	855	30	2	2232	2	BRSK1	19	55820079	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	572560	55820079	3308904	2381	60595											
TMEM190	147744	broad.mit.edu	37	chr19	55889466	55889466	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagacgccgtccacgggcagCgtgccagtcgccctgtccaa	8	5	12	16	5	0	1	0	0	0	1	3	1	2	1	5	1	2	1	5	1	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:55889466C>T	ENST00000291934.3	+	5	447	c.429C>T	c.(427-429)agC>agT	p.S143S	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	143						integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCACGGGCAGCGTGCCAGTCG	0.647													20	32					0	0	0	0	T	55889466	C	T	55889466	2	4	328	1	0	0	0	0	0	0	0	1	16208	767	27	1		1	TMEM190	19	55889466	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	69387	55889466	3239517	2382	60596											
SBK2	646643	broad.mit.edu	37	chr19	56047458	56047458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccatagcaaccctggccCaggggacgcacttcctcgta	8	6	11	16	3	0	0	0	0	0	0	2	1	1	1	4	4	2	3	4	4	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56047458C>T	ENST00000413299.1	-	2	241	c.204G>A	c.(202-204)ctG>ctA	p.L68L	SBK2_ENST00000344158.3_Silent_p.L68L	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	68	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						AACCCTGGCCCAGGGGACGCA	0.672													10	18					0	0	0	0	T	56047458	C	T	56047458	2	4	328	1	0	0	0	0	0	0	0	1	13947	581	21	4		4	SBK2	19	56047458	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	157992	56047458	3081525	2383	60597											
ZNF784	147808	broad.mit.edu	37	chr19	56133381	56133381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggccgctaagcaccgaGgactgggtgaagcccttgcc	7	6	15	13	3	0	1	0	1	0	0	0	3	0	2	4	3	3	2	4	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56133381G>A	ENST00000325351.4	-	2	747	c.708C>T	c.(706-708)tcC>tcT	p.S236S	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TAAGCACCGAGGACTGGGTGA	0.662													4	6					0	0	0	0	A	56133381	G	A	56133381	2	1	328	1	0	0	0	0	0	0	0	1	18249	987	35	4		4	ZNF784	19	56133381	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	85923	56133381	2995602	2384	60598											
NLRP9	338321	broad.mit.edu	37	chr19	56244544	56244544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acagaattctctctggctggGaaaaaatgtcttcgatcttc	11	13	8	9	1	4	1	0	0	4	1	7	3	4	2	0	2	0	1	0	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56244544G>A	ENST00000332836.2	-	2	680	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	218	NACHT.					cytoplasm	ATP binding	p.S218F(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCTGGCTGGGAAAAAATGTC	0.478													16	24					0	0	0	0	A	56244544	G	A	56244544	3	1	328	1	0	0	0	0	1	0	0	0	10554	1174	41	2	2354	2	NLRP9	19	56244544	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	111163	56244544	2884439	2385	60599											
NLRP9	338321	broad.mit.edu	37	chr19	56244734	56244734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggttgtttttccaattcCatcaggaccttccaggacca	10	12	8	11	0	1	0	1	0	0	0	4	2	4	2	5	3	0	2	5	3	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56244734C>T	ENST00000332836.2	-	2	490	c.463G>A	c.(463-465)Gga>Aga	p.G155R		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	155	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTCCAATTCCATCAGGACCT	0.413													29	45					0	0	0	0	T	56244734	C	T	56244734	3	4	328	1	0	0	0	0	1	0	0	0	10554	603	21	4	2544	4	NLRP9	19	56244734	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	190	56244734	2884249	2386	60600											
NLRP11	204801	broad.mit.edu	37	chr19	56303724	56303724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaacgtcacatgcaacactCcgtaattttttaagcgattc	13	12	6	10	3	1	0	1	0	0	0	3	2	2	0	1	0	4	2	1	0	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56303724C>T	ENST00000443188.1	-	9	3166	c.2456G>A	c.(2455-2457)gGa>gAa	p.G819E	NLRP11_ENST00000592953.1_Missense_Mutation_p.G720E|NLRP11_ENST00000589824.2_Missense_Mutation_p.G765E|NLRP11_ENST00000589093.1_Missense_Mutation_p.G819E|NLRP11_ENST00000360133.3_Missense_Mutation_p.G765E	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	819							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)		ATGCAACACTCCGTAATTTTT	0.468													43	68					0	0	0	0	T	56303724	C	T	56303724	3	4	328	1	0	0	0	0	1	0	0	0	10543	855	30	2	661	2	NLRP11	19	56303724	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	58990	56303724	2825259	2387	60601											
NLRP11	204801	broad.mit.edu	37	chr19	56320538	56320538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtattgttctctcttctCtttatactctctgctgcctg	5	19	6	11	0	4	1	0	0	4	1	7	1	4	1	1	0	3	3	1	0	3	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56320538C>T	ENST00000443188.1	-	5	2148	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	NLRP11_ENST00000592953.1_Missense_Mutation_p.E381K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E480K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E480K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E480K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	480							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)		TCTCTCTTCTCTTTATACTCT	0.393													30	61					0	0	0	0	T	56320538	C	T	56320538	3	4	328	1	0	0	0	0	1	0	0	0	10543	922	32	2	1695	2	NLRP11	19	56320538	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	16814	56320538	2808445	2388	60602											
NLRP11	204801	broad.mit.edu	37	chr19	56321436	56321436	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaggtgaacgacgtacgaGatcatgttctgccacatctc	10	10	11	10	3	3	3	1	2	2	1	4	5	3	3	1	1	3	2	1	1	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56321436G>A	ENST00000443188.1	-	5	1250	c.540C>T	c.(538-540)atC>atT	p.I180I	NLRP11_ENST00000592953.1_Silent_p.I81I|NLRP11_ENST00000589824.2_Silent_p.I180I|NLRP11_ENST00000589093.1_Silent_p.I180I|NLRP11_ENST00000360133.3_Silent_p.I180I	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	180	NACHT.						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)		CGACGTACGAGATCATGTTCT	0.498													12	25					0	0	0	0	A	56321436	G	A	56321436	2	1	328	1	0	0	0	0	0	0	0	1	10543	932	33	2		2	NLRP11	19	56321436	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	898	56321436	2807547	2389	60603											
NLRP4	147945	broad.mit.edu	37	chr19	56373416	56373416	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttgaggtgctcttttatCagccagacttgaaatacctg	9	15	8	9	0	3	3	1	2	2	1	3	3	3	3	2	1	3	1	2	1	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56373416C>T	ENST00000301295.6	+	5	2499	c.2077C>T	c.(2077-2079)Cag>Tag	p.Q693*	NLRP4_ENST00000587891.1_Nonsense_Mutation_p.Q618*|NLRP4_ENST00000346986.5_Nonsense_Mutation_p.Q693*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	693							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTCTTTTATCAGCCAGACTT	0.433													36	66					0	0	0	0	T	56373416	C	T	56373416	4	4	328	1	0	0	0	0	0	1	0	0	10549	827	29	2	2091	2	NLRP4	19	56373416	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	51980	56373416	2755567	2390	60604											
NLRP4	147945	broad.mit.edu	37	chr19	56373427	56373427	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttttatcagccagacttGaaatacctgagcttcaccct	10	13	5	13	0	3	3	2	2	1	1	3	3	3	3	3	0	3	1	3	0	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56373427G>A	ENST00000301295.6	+	5	2510	c.2088G>A	c.(2086-2088)ttG>ttA	p.L696L	NLRP4_ENST00000587891.1_Silent_p.L621L|NLRP4_ENST00000346986.5_Silent_p.L696L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	696							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCCAGACTTGAAATACCTGA	0.443													36	61					0	0	0	0	A	56373427	G	A	56373427	2	1	328	1	0	0	0	0	0	0	0	1	10549	1281	45	2		2	NLRP4	19	56373427	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	11	56373427	2755556	2391	60605											
NLRP13	126204	broad.mit.edu	37	chr19	56423611	56423611	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacccccacagtcattgatCttttgaagaatattgaactc	13	12	5	11	0	2	4	1	3	1	1	3	4	2	4	2	0	2	0	2	0	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56423611C>T	ENST00000588751.1	-	5	1596	c.1572G>A	c.(1570-1572)aaG>aaA	p.K524K	NLRP13_ENST00000342929.3_Silent_p.K524K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	524	NACHT.						ATP binding	p.K524N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGTCATTGATCTTTTGAAGAA	0.438													29	44					0	0	0	0	T	56423611	C	T	56423611	2	4	328	1	0	0	0	0	0	0	0	1	10545	912	32	2		2	NLRP13	19	56423611	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	50184	56423611	2705372	2392	60606											
NLRP8	126205	broad.mit.edu	37	chr19	56459380	56459380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctaccccggctccccatgtGaaaatggggtcatgctgtac	8	9	11	13	1	1	1	1	1	0	0	2	1	2	1	4	3	3	4	4	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56459380G>A	ENST00000291971.3	+	1	183	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	NLRP8_ENST00000590542.1_Missense_Mutation_p.E38K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	38	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCCCCATGTGAAAATGGGGT	0.527													21	33					0	0	0	0	A	56459380	G	A	56459380	3	1	328	1	0	0	0	0	1	0	0	0	10553	1291	45	2	114	2	NLRP8	19	56459380	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	35769	56459380	2669603	2393	60607											
NLRP5	126206	broad.mit.edu	37	chr19	56549454	56549454	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccaaatccttacgacctcCcccagcctgaaatctctgag	10	9	5	17	1	1	2	0	2	1	0	5	3	4	2	6	0	2	0	6	0	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56549454C>T	ENST00000390649.3	+	10	2679	c.2679C>T	c.(2677-2679)tcC>tcT	p.S893S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	893						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTACGACCTCCCCCAGCCTGA	0.547													27	28					0	0	0	0	T	56549454	C	T	56549454	2	4	328	1	0	0	0	0	0	0	0	1	10550	610	22	4		4	NLRP5	19	56549454	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	90074	56549454	2579529	2394	60608											
ZNF582	147948	broad.mit.edu	37	chr19	56896329	56896329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaagggatgcatgctggtCaaaagtgggcatttcttcat	11	12	12	6	0	3	0	2	0	1	0	3	1	3	1	0	3	2	4	0	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56896329C>T	ENST00000301310.4	-	5	615	c.457G>A	c.(457-459)Gac>Aac	p.D153N	ZNF582_ENST00000586929.1_Missense_Mutation_p.D153N	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GCATGCTGGTCAAAAGTGGGC	0.378													41	67					0	0	0	0	T	56896329	C	T	56896329	3	4	328	1	0	0	0	0	1	0	0	0	18109	826	29	2	1100	2	ZNF582	19	56896329	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	346875	56896329	2232654	2395	60609											
ZIM2	23619	broad.mit.edu	37	chr19	57286732	57286732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgccttcctggggatcctttCctagaggatcctttgattgt	5	16	10	10	0	0	2	0	1	0	1	4	4	4	4	5	3	1	0	5	3	1	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57286732C>T	ENST00000391708.3	-	12	1450	c.908G>A	c.(907-909)gGa>gAa	p.G303E	ZIM2_ENST00000601070.1_Missense_Mutation_p.G303E|ZIM2_ENST00000221722.5_Missense_Mutation_p.G303E|ZIM2_ENST00000599935.1_Missense_Mutation_p.G303E|ZIM2_ENST00000593711.1_Missense_Mutation_p.G303E|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GGGATCCTTTCCTAGAGGATC	0.453													26	37					0	0	0	0	T	57286732	C	T	57286732	3	4	328	1	0	0	0	0	1	0	0	0	17779	855	30	2	679	2	ZIM2	19	57286732	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	390403	57286732	1842251	2396	60610											
PEG3	5178	broad.mit.edu	37	chr19	57333096	57333096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttgttttcgccaccacagGaagggaaagatcccgcggag	10	7	13	11	3	0	1	0	0	0	1	2	4	1	4	3	3	0	2	3	3	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57333096G>A	ENST00000326441.9	-	7	955	c.592C>T	c.(592-594)Cct>Tct	p.P198S	ZIM2_ENST00000601070.1_Missense_Mutation_p.P73S|PEG3_ENST00000423103.2_Missense_Mutation_p.P198S|ZIM2_ENST00000221722.5_Missense_Mutation_p.P73S|PEG3_ENST00000598410.1_Missense_Mutation_p.P73S|ZIM2_ENST00000391708.3_Missense_Mutation_p.P73S|ZIM2_ENST00000599935.1_Missense_Mutation_p.P73S|ZIM2_ENST00000593711.1_Missense_Mutation_p.P73S|PEG3_ENST00000593695.1_Missense_Mutation_p.P72S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	198					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCACCACAGGAAGGGAAAGA	0.537													54	92					0	0	0	0	A	57333096	G	A	57333096	3	1	328	1	0	0	0	0	1	0	0	0	11791	1174	41	2	4193	2	PEG3	19	57333096	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	46364	57333096	1795887	2397	60611											
PEG3	5178	broad.mit.edu	37	chr19	57335918	57335918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcagttggaccttctcCtatgatgacatccggctcct	8	12	9	12	1	2	3	1	2	1	1	5	4	4	4	4	2	0	2	4	2	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57335918C>T	ENST00000326441.9	-	4	469	c.106G>A	c.(106-108)Gga>Aga	p.G36R	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G36R|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	36					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGACCTTCTCCTATGATGACA	0.478													36	44					0	0	0	0	T	57335918	C	T	57335918	3	4	328	1	0	0	0	0	1	0	0	0	11791	690	24	4		4	PEG3	19	57335918	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2822	57335918	1793065	2398	60612											
USP29	57663	broad.mit.edu	37	chr19	57640145	57640145	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaacagtgcaaagacaaaaGgaaattaaactggtggtcac	19	6	10	6	0	1	1	1	0	0	1	1	3	1	2	0	3	3	1	0	3	7	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57640145G>A	ENST00000254181.4	+	4	556	c.102G>A	c.(100-102)aaG>aaA	p.K34K	USP29_ENST00000598197.1_Silent_p.K34K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	34					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAGACAAAAGGAAATTAAAC	0.353													22	30					0	0	0	0	A	57640145	G	A	57640145	2	1	328	1	0	0	0	0	0	0	0	1	17155	991	35	4		4	USP29	19	57640145	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	304227	57640145	1488838	2399	60613											
ZIM3	114026	broad.mit.edu	37	chr19	57647164	57647164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggtgactttgaaggcGtgactttgaactgaataact	11	12	10	8	1	1	5	1	5	0	0	1	5	1	5	1	2	2	0	1	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57647164G>A	ENST00000269834.1	-	5	926	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTGAAGGCGTGACTTTGAA	0.398													54	91					0	0	0	0	A	57647164	G	A	57647164	3	1	328	1	0	0	0	0	1	0	0	0	17780	1145	40	1	881	1	ZIM3	19	57647164	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	7019	57647164	1481819	2400	60614											
ZNF543	125919	broad.mit.edu	37	chr19	57839469	57839469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgtttaaaaagaatgccctCcttgttcagcatgaacggat	12	12	9	8	1	1	2	1	1	0	1	2	3	2	3	2	1	3	3	2	1	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57839469C>T	ENST00000321545.4	+	4	984	c.639C>T	c.(637-639)ctC>ctT	p.L213L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		AGAATGCCCTCCTTGTTCAGC	0.428													45	58					0	0	0	0	T	57839469	C	T	57839469	2	4	328	1	0	0	0	0	0	0	0	1	18071	842	30	2		2	ZNF543	19	57839469	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	192305	57839469	1289514	2401	60615											
ZNF548	147694	broad.mit.edu	37	chr19	57908527	57908527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctggagaatttggccCttttgtcctcactaggtaag	8	14	11	8	0	1	2	1	1	0	1	2	3	2	2	2	3	1	2	2	3	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57908527C>T	ENST00000366197.5	+	2	377	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_3'UTR|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000597400.1_Missense_Mutation_p.L55F|ZNF548_ENST00000598895.1_Missense_Mutation_p.L55F|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.L55F	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		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;0.026)		GAATTTGGCCCTTTTGTCCTC	0.532													135	225					0	0	0	0	T	57908527	C	T	57908527	3	4	328	1	0	0	0	0	1	0	0	0	18075	681	24	4	173	4	ZNF548	19	57908527	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	69058	57908527	1220456	2402	60616											
ZNF416	55659	broad.mit.edu	37	chr19	58084505	58084505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctttgcagctgaacaaggGagcactcacagcagcaggct	11	7	11	12	0	2	1	1	1	1	0	2	2	2	2	0	2	6	6	0	2	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58084505G>A	ENST00000196489.3	-	4	989	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTGAACAAGGGAGCACTCACA	0.468													66	79					0	0	0	0	A	58084505	G	A	58084505	3	1	328	1	0	0	0	0	1	0	0	0	17988	1174	41	2	1021	2	ZNF416	19	58084505	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	175978	58084505	1044478	2403	60617											
ZNF671	79891	broad.mit.edu	37	chr19	58232399	58232399	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaatcaggccggagattTgtctaaagaatttcccacat	12	11	8	10	1	3	2	2	0	1	2	4	3	4	2	2	2	0	1	2	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58232399T>C	ENST00000317398.6	-	4	1150	c.1055A>G	c.(1054-1056)cAa>cGa	p.Q352R	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.Q254R	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCCGGAGATTTGTCTAAAGAA	0.443													25	43					0	0	0	0	C	58232399	T	C	58232399	3	2	328	1	0	0	0	0	1	0	0	0	18173	1812	63	5	553	5	ZNF671	19	58232399	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	147894	58232399	896584	2404	60618											
ZSCAN1	284312	broad.mit.edu	37	chr19	58549384	58549384	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcgcgctgggccagctctgGacgctgtgccgccagtggct	3	8	15	15	4	1	0	0	0	1	0	2	1	1	1	3	3	2	4	3	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58549384G>A	ENST00000282326.1	+	3	427	c.180G>A	c.(178-180)tgG>tgA	p.W60*	ZSCAN1_ENST00000391700.1_Nonsense_Mutation_p.W60*|ZSCAN1_ENST00000601162.1_Nonsense_Mutation_p.W60*	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	60	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCCAGCTCTGGACGCTGTGCC	0.706													15	16					0	0	0	0	A	58549384	G	A	58549384	4	1	328	1	0	0	0	0	0	1	0	0	18319	1183	41	2	182	2	ZSCAN1	19	58549384	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	316985	58549384	579599	2405	60619											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565258	58565258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaagccccccggagcaagGgcccccgggagtccgtccca	9	2	13	17	3	0	1	0	0	0	1	2	3	2	3	7	3	2	1	7	3	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58565258G>A	ENST00000282326.1	+	6	1313	c.1066G>A	c.(1066-1068)Ggc>Agc	p.G356S		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	356					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGGAGCAAGGGCCCCCGGGA	0.662													25	18					0	0	0	0	A	58565258	G	A	58565258	3	1	328	1	0	0	0	0	1	0	0	0	18319	1232	43	4	1080	4	ZSCAN1	19	58565258	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	15874	58565258	563725	2406	60620											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596244	58596244	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggctgaagtggaaggtcttCcagcagccctgacaggcgta	10	7	14	10	1	1	2	0	2	1	0	2	3	2	3	2	4	2	3	2	4	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58596244C>T	ENST00000240727.6	-	7	1740	c.1341G>A	c.(1339-1341)tgG>tgA	p.W447*	ZSCAN18_ENST00000601144.1_Nonsense_Mutation_p.W447*|ZSCAN18_ENST00000600404.1_Nonsense_Mutation_p.W503*|ZSCAN18_ENST00000421612.2_Nonsense_Mutation_p.W311*	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	447					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGAAGGTCTTCCAGCAGCCCT	0.687													6	11					0	0	0	0	T	58596244	C	T	58596244	4	4	328	1	0	0	0	0	0	1	0	0	18322	856	30	2	195	2	ZSCAN18	19	58596244	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	30986	58596244	532739	2407	60621											
ZNF544	27300	broad.mit.edu	37	chr19	58758137	58758137	+	Missense_Mutation	SNP	G	G	A																															gcaagaagaggacctgtgcaGggcagagcaggaggcccccc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58758137G>A	ENST00000269829.4	+	6	695	c.221G>A	c.(220-222)aGg>aAg	p.R74K	CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000595981.1_Missense_Mutation_p.R74K|ZNF544_ENST00000596929.1_Missense_Mutation_p.R74K|ZNF544_ENST00000594384.1_Silent_p.Q62Q|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000599953.1_5'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.R74K|ZNF544_ENST00000415203.2_Intron|ZNF544_ENST00000333581.5_Missense_Mutation_p.R74K|ZNF544_ENST00000596825.1_Silent_p.Q62Q|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000599227.1_Silent_p.Q62Q	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	74	KRAB.				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)		GACCTGTGCAGGGCAGAGCAG	0.567													25	56					0	0	0	0	A	58758137	G	A	58758137	3	1	328	1	0	0	0	0	1	0	0	0	18072	1000	35	4	231	4	ZNF544	19	58758137	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	161893	58758137	370846	2408	60622	703	2									
ZNF544	27300	broad.mit.edu	37	chr19	58758138	58758138	+	Missense_Mutation	SNP	G	G	A																															caagaagaggacctgtgcagGgcagagcaggaggccccccg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58758138G>A	ENST00000599227.1	+	6	771	c.187G>A	c.(187-189)Ggc>Agc	p.G63S	ZNF544_ENST00000269829.4_Silent_p.R74R|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000595981.1_Silent_p.R74R|ZNF544_ENST00000596929.1_Silent_p.R74R|ZNF544_ENST00000594384.1_Missense_Mutation_p.G63S|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000599953.1_5'UTR|ZNF544_ENST00000596652.1_Silent_p.R74R|ZNF544_ENST00000415203.2_Intron|ZNF544_ENST00000333581.5_Silent_p.R74R|ZNF544_ENST00000596825.1_Missense_Mutation_p.G63S|ZNF544_ENST00000600220.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	0	KRAB.				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)		ACCTGTGCAGGGCAGAGCAGG	0.572													25	56					0	0	0	0	A	58758138	G	A	58758138	3	1	328	1	0	0	0	0	1	0	0	0	18072	1223	43	4	232	4	ZNF544	19	58758138	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	58758138	370845	2409	60623	703	2									
A1BG	1	broad.mit.edu	37	chr19	58862847	58862847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcaggtgtagtgacctcCatcccccagggccaccgcgt	6	6	13	16	3	0	1	0	1	0	0	2	1	2	1	6	3	0	2	6	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58862847C>T	ENST00000263100.3	-	5	881	c.820G>A	c.(820-822)Gga>Aga	p.G274R	A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	274	Ig-like V-type 3.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TAGTGACCTCCATCCCCCAGG	0.642													28	46					0	0	0	0	T	58862847	C	T	58862847	3	4	328	1	0	0	0	0	1	0	0	0	1	603	21	4	683	4	A1BG	19	58862847	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	104709	58862847	266136	2410	60624											
A1BG	1	broad.mit.edu	37	chr19	58864480	58864480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtctggagtctccaggtGggcctggcacgtcagcgtca	7	8	15	11	2	4	0	2	0	2	0	5	2	4	1	2	4	1	1	2	4	1	0	rs144181716		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58864480G>A	ENST00000263100.3	-	3	215	c.154C>T	c.(154-156)Cac>Tac	p.H52Y	A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	52	Ig-like V-type 1.		H -> R (in dbSNP:rs893184).			extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GTCTCCAGGTGGGCCTGGCAC	0.602													42	60					0	0	0	0	A	58864480	G	A	58864480	3	1	328	1	0	0	0	0	1	0	0	0	1	1348	47	4	1357	4	A1BG	19	58864480	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1633	58864480	264503	2411	60625											
SLC27A5	10998	broad.mit.edu	37	chr19	59010871	59010871	+	Missense_Mutation	SNP	C	C	T																															cctcggaccggaaggtgtccCcgaggcggtcgcggaagtag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:59010871C>T	ENST00000263093.2	-	7	1764	c.1655G>A	c.(1654-1656)gGg>gAg	p.G552E	SLC27A5_ENST00000601355.1_Missense_Mutation_p.G468E	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	552					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GAAGGTGTCCCCGAGGCGGTC	0.667													15	23					0	0	0	0	T	59010871	C	T	59010871	3	4	328	1	0	0	0	0	1	0	0	0	14617	623	22	4	433	4	SLC27A5	19	59010871	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	146391	59010871	118112	2412	60626	704	2									
SLC27A5	10998	broad.mit.edu	37	chr19	59010872	59010872	+	Missense_Mutation	SNP	C	C	T																															ctcggaccggaaggtgtcccCgaggcggtcgcggaagtaga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:59010872C>T	ENST00000263093.2	-	7	1763	c.1654G>A	c.(1654-1656)Ggg>Agg	p.G552R	SLC27A5_ENST00000601355.1_Missense_Mutation_p.G468R	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	552					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AAGGTGTCCCCGAGGCGGTCG	0.667													15	23					0	0	0	0	T	59010872	C	T	59010872	3	4	328	1	0	0	0	0	1	0	0	0	14617	652	23	1	434	1	SLC27A5	19	59010872	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	59010872	118111	2413	60627	704	2									
ZBTB45	84878	broad.mit.edu	37	chr19	59028821	59028821	+	Missense_Mutation	SNP	C	C	T																															cactgtctgcgcgggcaccaCcggaggcacacggatctcag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:59028821C>T	ENST00000594051.1	-	2	700	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	ZBTB45_ENST00000600990.1_Missense_Mutation_p.V74M|ZBTB45_ENST00000354590.3_Missense_Mutation_p.V74M			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	74	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCGGGCACCACCGGAGGCACA	0.662											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	41					0	0	0	0	T	59028821	C	T	59028821	3	4	328	1	0	0	0	0	1	0	0	0	17641	507	18	4	1323	4	ZBTB45	19	59028821	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	17949	59028821	100162	2414	60628	705	2									
ZBTB45	84878	broad.mit.edu	37	chr19	59028822	59028822	+	Silent	SNP	C	C	T																															actgtctgcgcgggcaccacCggaggcacacggatctcaga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:59028822C>T	ENST00000594051.1	-	2	699	c.219G>A	c.(217-219)ccG>ccA	p.P73P	ZBTB45_ENST00000600990.1_Silent_p.P73P|ZBTB45_ENST00000354590.3_Silent_p.P73P			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	73	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CGGGCACCACCGGAGGCACAC	0.662											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	41					0	0	0	0	T	59028822	C	T	59028822	2	4	328	1	0	0	0	0	0	0	0	1	17641	639	23	1		1	ZBTB45	19	59028822	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	59028822	100161	2415	60629	705	2									
NSFL1C	55968	broad.mit.edu	37	chr20	1424429	1424429	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgatgacagcattgagcaGgttggcttccttcagggtct	8	11	12	10	1	2	2	1	2	1	0	3	3	3	2	1	3	2	4	1	3	0	4	rs6079152		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:1424429G>A	ENST00000216879.4	-	9	1945	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Silent_p.L329L|NSFL1C_ENST00000476071.1_Silent_p.L362L|NSFL1C_ENST00000350991.4_Silent_p.L362L|NSFL1C_ENST00000381658.4_Silent_p.L249L	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	360	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCATTGAGCAGGTTGGCTTCC	0.597													14	24					0	0	0	0	A	1424429	G	A	1424429	2	1	328	1	0	0	0	0	0	0	0	1	10743	991	35	4		4	NSFL1C	20	1424429	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08		1424429	61601091	2416	60630											
TGM3	7053	broad.mit.edu	37	chr20	2308911	2308911	+	Silent	SNP	G	G	A																															accactggcaaacagtggaaGaattccgtgaacagtcacac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:2308911G>A	ENST00000381458.5	+	9	1296	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	411					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AACAGTGGAAGAATTCCGTGA	0.537													26	54					0	0	0	0	A	2308911	G	A	2308911	2	1	328	1	0	0	0	0	0	0	0	1	15925	933	33	2		2	TGM3	20	2308911	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	884482	2308911	60716609	2417	60631	706	2									
TGM3	7053	broad.mit.edu	37	chr20	2308919	2308919	+	Missense_Mutation	SNP	T	T	A																															caaacagtggaagaattccgTgaacagtcacaccattggca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:2308919T>A	ENST00000381458.5	+	9	1304	c.1241T>A	c.(1240-1242)gTg>gAg	p.V414E		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	414					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AAGAATTCCGTGAACAGTCAC	0.542													34	38					0	0	0	0	A	2308919	T	A	2308919	3	1	328	1	0	0	0	0	1	0	0	0	15925	1696	59	5	1275	5	TGM3	20	2308919	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	8	2308919	60716601	2418	60632	706	2									
TMC2	117532	broad.mit.edu	37	chr20	2542542	2542542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtgcctctggtggggagtCcctgtccgaggaggaactgg	6	8	17	10	1	1	0	0	0	1	0	3	4	3	3	3	6	2	0	3	6	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:2542542C>T	ENST00000358864.1	+	4	455	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	147	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGTGGGGAGTCCCTGTCCGAG	0.612													29	48					0	0	0	0	T	2542542	C	T	2542542	3	4	328	1	0	0	0	0	1	0	0	0	16079	855	30	2	454	2	TMC2	20	2542542	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	233623	2542542	60482978	2419	60633											
SLC23A2	9962	broad.mit.edu	37	chr20	4843526	4843526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagcatgagggctgctcCgcactgtatcacgcggcggc	7	6	15	13	5	1	1	1	1	0	0	2	2	2	1	1	3	3	5	1	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:4843526C>T	ENST00000379333.1	-	14	1776	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	SLC23A2_ENST00000424750.2_Missense_Mutation_p.G348R|SLC23A2_ENST00000338244.1_Missense_Mutation_p.G462R	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	462					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGGGCTGCTCCGCACTGTATC	0.572													11	29					0	0	0	0	T	4843526	C	T	4843526	3	4	328	1	0	0	0	0	1	0	0	0	14551	661	23	1	584	1	SLC23A2	20	4843526	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2300984	4843526	58181994	2420	60634											
CHGB	1114	broad.mit.edu	37	chr20	5903718	5903718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaagggacacccccaggagGaatctgaggagtcaaacgtc	15	4	12	10	1	2	1	1	1	1	0	3	5	2	5	2	4	1	0	2	4	4	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:5903718G>A	ENST00000378961.4	+	4	1132	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	310						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCCCCAGGAGGAATCTGAGGA	0.572													12	26					0	0	0	0	A	5903718	G	A	5903718	3	1	328	1	0	0	0	0	1	0	0	0	3368	1175	41	2	942	2	CHGB	20	5903718	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1060192	5903718	57121802	2421	60635											
PLCB1	23236	broad.mit.edu	37	chr20	8678311	8678311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcctctgttgagatgtatCgccaagtgctcctgtctggt	6	14	10	11	1	2	1	0	1	2	1	5	2	4	1	3	1	1	3	3	1	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:8678311C>T	ENST00000378641.3	+	11	1523	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	PLCB1_ENST00000338037.6_Missense_Mutation_p.R350C|PLCB1_ENST00000378637.2_Missense_Mutation_p.R350C	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	350	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.R350C(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAGATGTATCGCCAAGTGCT	0.522													52	77					0	0	0	0	T	8678311	C	T	8678311	3	4	328	1	0	0	0	0	1	0	0	0	12099	884	31	1	1090	1	PLCB1	20	8678311	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2774593	8678311	54347209	2422	60636											
PAK7	57144	broad.mit.edu	37	chr20	9560857	9560857	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagttgtaggagtgtccttGgggatgggttttaaatgcac	8	13	16	4	0	0	0	0	0	0	0	1	3	1	3	1	5	1	4	1	5	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:9560857G>A	ENST00000378429.3	-	5	1471	c.925C>T	c.(925-927)Caa>Taa	p.Q309*	PAK7_ENST00000353224.5_Nonsense_Mutation_p.Q309*|PAK7_ENST00000378423.1_Nonsense_Mutation_p.Q309*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	309	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAGTGTCCTTGGGGATGGGTT	0.552													58	130					0	0	0	0	A	9560857	G	A	9560857	4	1	328	1	0	0	0	0	0	1	0	0	11476	1357	47	4	1262	4	PAK7	20	9560857	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	882546	9560857	53464663	2423	60637											
JAG1	182	broad.mit.edu	37	chr20	10625548	10625548	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctcccagccttccttgcaGacgcacgtaaaggactcgcc	8	7	8	18	3	0	1	0	0	0	1	3	2	2	2	5	1	2	3	5	1	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:10625548G>A	ENST00000254958.5	-	18	2822	c.2307C>T	c.(2305-2307)gtC>gtT	p.V769V	JAG1_ENST00000423891.2_Silent_p.V610V	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	769	EGF-like 14.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CTTCCTTGCAGACGCACGTAA	0.592									Alagille Syndrome				87	124					0	0	0	0	A	10625548	G	A	10625548	2	1	328	1	0	0	0	0	0	0	0	1	7987	929	33	2		2	JAG1	20	10625548	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1064691	10625548	52399972	2424	60638											
DTD1	92675	broad.mit.edu	37	chr20	18724858	18724858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaccgcagtgccagcagcGgggctgagggcgacgtgtcc	8	4	17	12	4	0	2	0	1	0	1	1	3	1	2	3	3	3	3	3	3	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:18724858G>A	ENST00000377452.3	+	5	772	c.592G>A	c.(592-594)Ggg>Agg	p.G198R		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	198					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						TGCCAGCAGCGGGGCTGAGGG	0.537													13	38					0	0	0	0	A	18724858	G	A	18724858	3	1	328	1	0	0	0	0	1	0	0	0	4822	1116	39	1	610	1	DTD1	20	18724858	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	8099310	18724858	44300662	2425	60639											
C20orf26	26074	broad.mit.edu	37	chr20	20150022	20150022	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgagttcttcctcatcCagaacttcgtgaaaatggtc	9	11	7	14	2	2	2	1	1	1	1	6	3	4	2	4	1	1	1	4	1	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:20150022C>T	ENST00000245957.5	+	13	1379	c.1303C>T	c.(1303-1305)Cag>Tag	p.Q435*	C20orf26_ENST00000377306.1_Nonsense_Mutation_p.Q435*|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Nonsense_Mutation_p.Q435*	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	435										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTTCCTCATCCAGAACTTCGT	0.458													25	51					0	0	0	0	T	20150022	C	T	20150022	4	4	328	1	0	0	0	0	0	1	0	0	2126	595	21	4	1349	4	C20orf26	20	20150022	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1425164	20150022	42875498	2426	60640											
C20orf26	26074	broad.mit.edu	37	chr20	20226796	20226796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taataatcttaccctgatttCaactcatggactcccaggaa	13	12	5	11	0	3	1	2	1	1	0	4	3	4	3	2	2	2	0	2	2	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:20226796C>T	ENST00000245957.5	+	19	2172	c.2096C>T	c.(2095-2097)tCa>tTa	p.S699L	C20orf26_ENST00000377293.1_Missense_Mutation_p.S55L|C20orf26_ENST00000389656.3_Missense_Mutation_p.S55L|C20orf26_ENST00000377309.2_Missense_Mutation_p.S55L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	699										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACCCTGATTTCAACTCATGGA	0.328													25	36					0	0	0	0	T	20226796	C	T	20226796	3	4	328	1	0	0	0	0	1	0	0	0	2126	838	29	2	2198	2	C20orf26	20	20226796	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	76774	20226796	42798724	2427	60641											
CD93	22918	broad.mit.edu	37	chr20	23065569	23065569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcctggcactgagtcccgtCctccccggccaggacgtagc	5	7	12	17	3	0	1	0	1	0	0	4	2	4	2	6	3	1	2	6	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:23065569C>T	ENST00000246006.4	-	1	1408	c.1261G>A	c.(1261-1263)Gac>Aac	p.D421N		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	421	EGF-like 4; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGAGTCCCGTCCTCCCCGGCC	0.642													34	51					0	0	0	0	T	23065569	C	T	23065569	3	4	328	1	0	0	0	0	1	0	0	0	3076	855	30	2	705	2	CD93	20	23065569	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2838773	23065569	39959951	2428	60642											
ZNF337	26152	broad.mit.edu	37	chr20	25655810	25655810	+	Missense_Mutation	SNP	C	C	T																															gcctctctcctgtgtgtattCtttcatgcacagtgaggtct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:25655810C>T	ENST00000376436.1	-	4	2653	c.2114G>A	c.(2113-2115)aGa>aAa	p.R705K	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.R705K|ZNF337_ENST00000538750.1_Missense_Mutation_p.R673K					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTGTGTATTCTTTCATGCAC	0.453													61	108					0	0	0	0	T	25655810	C	T	25655810	3	4	328	1	0	0	0	0	1	0	0	0	17948	913	32	2	145	2	ZNF337	20	25655810	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2590241	25655810	37369710	2429	60643	707	2									
ZNF337	26152	broad.mit.edu	37	chr20	25655811	25655811	+	Silent	SNP	T	T	G																															cctctctcctgtgtgtattcTttcatgcacagtgaggtctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:25655811T>G	ENST00000376436.1	-	4	2652	c.2113A>C	c.(2113-2115)Aga>Cga	p.R705R	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Silent_p.R705R|ZNF337_ENST00000538750.1_Silent_p.R673R					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGTGTATTCTTTCATGCACA	0.453													62	107					0	0	0	0	G	25655811	T	G	25655811	2	3	328	1	0	0	0	0	0	0	0	1	17948	1617	56	5		5	ZNF337	20	25655811	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	1	25655811	37369709	2430	60644	707	2									
DEFB123	245936	broad.mit.edu	37	chr20	30028510	30028510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgccttagccatgaagctCcttttgctgactttgactgt	6	15	9	11	0	0	3	0	3	0	0	1	3	1	3	3	0	4	3	3	0	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:30028510C>T	ENST00000376309.3	+	1	189	c.9C>T	c.(7-9)ctC>ctT	p.L3L		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	3					defense response to bacterium	extracellular region				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCATGAAGCTCCTTTTGCTGA	0.557													124	212					0	0	0	0	T	30028510	C	T	30028510	2	4	328	1	0	0	0	0	0	0	0	1	4445	842	30	2		2	DEFB123	20	30028510	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4372699	30028510	32997010	2431	60645											
DNMT3B	1789	broad.mit.edu	37	chr20	31372588	31372588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgacaggcgatggcgacgggGaagatggggatggctctgac	9	6	19	7	3	1	3	0	2	1	1	1	7	1	5	0	7	0	1	0	7	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:31372588G>A	ENST00000328111.2	+	4	550	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	DNMT3B_ENST00000375623.4_Missense_Mutation_p.E77K|DNMT3B_ENST00000344505.4_Missense_Mutation_p.E77K|DNMT3B_ENST00000201963.3_Missense_Mutation_p.E89K|DNMT3B_ENST00000443239.3_Missense_Mutation_p.E77K|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000348286.2_Missense_Mutation_p.E77K|DNMT3B_ENST00000353855.2_Missense_Mutation_p.E77K	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	77	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGCGACGGGGAAGATGGGGA	0.517													24	40					0	0	0	0	A	31372588	G	A	31372588	3	1	328	1	0	0	0	0	1	0	0	0	4713	1175	41	2	279	2	DNMT3B	20	31372588	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1344078	31372588	31652932	2432	60646											
EIF6	3692	broad.mit.edu	37	chr20	33867794	33867794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcatcctggtcttcaattGaagtcttgggatgcaccagc	8	12	10	11	0	4	1	2	1	2	0	5	2	5	2	2	2	2	2	2	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:33867794G>A	ENST00000374450.3	-	5	761	c.497C>T	c.(496-498)tCa>tTa	p.S166L	EIF6_ENST00000374443.3_Missense_Mutation_p.S147L|RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000374436.3_Missense_Mutation_p.S166L	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	166					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTCTTCAATTGAAGTCTTGGG	0.537													88	112					0	0	0	0	A	33867794	G	A	33867794	3	1	328	1	0	0	0	0	1	0	0	0	5083	1294	45	2	252	2	EIF6	20	33867794	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2495206	33867794	29157726	2433	60647											
SCAND1	51282	broad.mit.edu	37	chr20	34542150	34542150	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctccttccagtttctcCggtggcaccgccgcgggact	3	9	12	17	5	1	0	0	0	1	0	4	1	3	1	6	4	0	3	6	4	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:34542150C>T	ENST00000373991.3	-	3	1127	c.57G>A	c.(55-57)ccG>ccA	p.P19P	SCAND1_ENST00000305978.2_Silent_p.P19P			P57086	SCND1_HUMAN	SCAN domain containing 1	19					viral reproduction	nucleus	identical protein binding|sequence-specific DNA binding transcription factor activity					Breast(12;0.00631)|all_lung(11;0.0233)					CCAGTTTCTCCGGTGGCACCG	0.662													8	33					0	0	0	0	T	34542150	C	T	34542150	2	4	328	1	0	0	0	0	0	0	0	1	13961	639	23	1		1	SCAND1	20	34542150	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	674356	34542150	28483370	2434	60648											
EPB41L1	2036	broad.mit.edu	37	chr20	34778667	34778667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgaccggcctgcacccttCtttgagcgttcttccagcaa	7	12	8	14	2	2	2	0	2	2	0	3	2	3	2	4	1	3	3	4	1	1	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:34778667C>T	ENST00000338074.2	+	11	1409	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	EPB41L1_ENST00000202028.5_Silent_p.F354F|EPB41L1_ENST00000373941.1_Silent_p.F416F|EPB41L1_ENST00000373946.3_Silent_p.F385F|EPB41L1_ENST00000373950.2_Silent_p.F319F|EPB41L1_ENST00000441639.1_Silent_p.F354F	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	416					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTGCACCCTTCTTTGAGCGTT	0.607													16	27					0	0	0	0	T	34778667	C	T	34778667	2	4	328	1	0	0	0	0	0	0	0	1	5190	912	32	2		2	EPB41L1	20	34778667	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	236517	34778667	28246853	2435	60649											
EPB41L1	2036	broad.mit.edu	37	chr20	34809819	34809819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttttctgagacaaggatcGagaagcgaatcatcattact	13	11	10	7	2	3	2	2	1	1	2	4	6	3	3	0	2	2	1	0	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:34809819G>A	ENST00000338074.2	+	20	2634	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K	EPB41L1_ENST00000202028.5_Missense_Mutation_p.E723K|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E824K|EPB41L1_ENST00000373946.3_Missense_Mutation_p.E645K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E716K|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E723K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	825	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GACAAGGATCGAGAAGCGAAT	0.552													36	69					0	0	0	0	A	34809819	G	A	34809819	3	1	328	1	0	0	0	0	1	0	0	0	5190	1059	37	1	2547	1	EPB41L1	20	34809819	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	31152	34809819	28215701	2436	60650											
DLGAP4	22839	broad.mit.edu	37	chr20	35060384	35060384	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgccagaggagagccccttCcccagccatgcccaagccac	9	4	10	18	0	0	2	0	0	0	2	1	3	1	2	8	1	5	0	8	1	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:35060384C>T	ENST00000373913.3	+	3	744	c.264C>T	c.(262-264)ttC>ttT	p.F88F	DLGAP4_ENST00000339266.5_Silent_p.F88F|DLGAP4_ENST00000373907.2_Silent_p.F88F|DLGAP4_ENST00000401952.2_Silent_p.F88F			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	88					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGAGCCCCTTCCCCAGCCATG	0.627													34	68					0	0	0	0	T	35060384	C	T	35060384	2	4	328	1	0	0	0	0	0	0	0	1	4599	854	30	2		2	DLGAP4	20	35060384	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	250565	35060384	27965136	2437	60651											
LPIN3	64900	broad.mit.edu	37	chr20	39977494	39977494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggcgctgagagtgagctatCcctgccggaaaagctgaggc	10	6	15	10	2	0	3	0	3	0	1	1	5	1	4	2	3	3	3	2	3	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:39977494C>T	ENST00000373257.3	+	4	615	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	175					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AGTGAGCTATCCCTGCCGGAA	0.567													9	12					0	0	0	0	T	39977494	C	T	39977494	3	4	328	1	0	0	0	0	1	0	0	0	8984	855	30	2	534	2	LPIN3	20	39977494	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	4917110	39977494	23048026	2438	60652											
MYBL2	4605	broad.mit.edu	37	chr20	42310477	42310477	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggacagcaggactggaagttCctggccagccacttccctgt	8	8	12	13	0	0	0	0	0	0	0	2	3	2	3	4	4	2	2	4	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:42310477C>T	ENST00000217026.4	+	3	295	c.168C>T	c.(166-168)ttC>ttT	p.F56F	MYBL2_ENST00000396863.4_Intron	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	56	HTH myb-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACTGGAAGTTCCTGGCCAGCC	0.602													20	41					0	0	0	0	T	42310477	C	T	42310477	2	4	328	1	0	0	0	0	0	0	0	1	10080	854	30	2		2	MYBL2	20	42310477	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2332983	42310477	20715043	2439	60653											
HNF4A	3172	broad.mit.edu	37	chr20	43056986	43056986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacctgcagggtcccccagcGatgcaccccatgcccaccac	8	5	8	20	1	0	0	0	0	0	0	1	1	1	0	7	1	5	2	7	1	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:43056986G>A	ENST00000316099.3	+	9	1230	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	HNF4A_ENST00000415691.1_Missense_Mutation_p.D381N|HNF4A_ENST00000457232.1_Missense_Mutation_p.D359N	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	381					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTCCCCCAGCGATGCACCCCA	0.592													26	51					0	0	0	0	A	43056986	G	A	43056986	3	1	328	1	0	0	0	0	1	0	0	0	7303	1058	37	1	1353	1	HNF4A	20	43056986	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	746509	43056986	19968534	2440	60654											
ZSWIM3	140831	broad.mit.edu	37	chr20	44505937	44505937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacaaggaacgagaaagtcGagtggtgcactttgctgtgc	12	8	14	7	2	0	1	0	0	0	1	1	5	0	2	0	2	5	2	0	2	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:44505937G>A	ENST00000255152.2	+	2	949	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.R241Q	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	247							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CGAGAAAGTCGAGTGGTGCAC	0.532													34	49					0	0	0	0	A	44505937	G	A	44505937	3	1	328	1	0	0	0	0	1	0	0	0	18333	1058	37	1	746	1	ZSWIM3	20	44505937	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1448951	44505937	18519583	2441	60655											
ZNF334	55713	broad.mit.edu	37	chr20	45130155	45130155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggctgacttatggcagaagGatttcccacattcattacat	12	12	8	9	0	1	2	1	1	0	1	2	3	2	3	1	3	1	2	1	3	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:45130155G>A	ENST00000457685.2	-	6	3032	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	ZNF334_ENST00000347606.4_Missense_Mutation_p.S608F|ZNF334_ENST00000593880.1_Missense_Mutation_p.S631F			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATGGCAGAAGGATTTCCCACA	0.428													41	75					0	0	0	0	A	45130155	G	A	45130155	3	1	328	1	0	0	0	0	1	0	0	0	17946	1174	41	2	223	2	ZNF334	20	45130155	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	624218	45130155	17895365	2442	60656											
KCNB1	3745	broad.mit.edu	37	chr20	47991509	47991509	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggagaggacgatgaacatGatggaaattatggcaaggat	15	8	15	3	1	0	3	0	2	0	1	0	8	0	6	0	5	1	1	0	5	4	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:47991509G>A	ENST00000371741.4	-	2	754	c.588C>T	c.(586-588)atC>atT	p.I196I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	196					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGATGAACATGATGGAAATTA	0.517													18	32					0	0	0	0	A	47991509	G	A	47991509	2	1	328	1	0	0	0	0	0	0	0	1	8065	1280	45	2		2	KCNB1	20	47991509	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2861354	47991509	15034011	2443	60657											
PTGIS	5740	broad.mit.edu	37	chr20	48166642	48166642	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctccttcatcctcgtgagGaagctggcagcatcttttcc	6	14	8	13	1	3	1	1	1	2	0	7	2	5	2	3	2	2	3	3	2	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:48166642G>A	ENST00000244043.4	-	2	188	c.159C>T	c.(157-159)ttC>ttT	p.F53F	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	53					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TCCTCGTGAGGAAGCTGGCAG	0.572													44	51					0	0	0	0	A	48166642	G	A	48166642	2	1	328	1	0	0	0	0	0	0	0	1	12832	1165	41	2		2	PTGIS	20	48166642	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	175133	48166642	14858878	2444	60658											
ATP9A	10079	broad.mit.edu	37	chr20	50255951	50255951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtaggatggtgaagttcagGatctggtcgccaggggtcct	7	11	16	7	1	2	1	1	1	1	0	4	3	3	3	2	6	0	2	2	6	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:50255951G>A	ENST00000338821.5	-	15	1863	c.1599C>T	c.(1597-1599)atC>atT	p.I533I	ATP9A_ENST00000311637.5_Silent_p.I397I|ATP9A_ENST00000402822.1_Silent_p.I412I	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	533					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGAAGTTCAGGATCTGGTCGC	0.522											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	76					0	0	0	0	A	50255951	G	A	50255951	2	1	328	1	0	0	0	0	0	0	0	1	1202	1164	41	2		2	ATP9A	20	50255951	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2089309	50255951	12769569	2445	60659											
BCAS1	8537	broad.mit.edu	37	chr20	52583479	52583479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgccatcagagaggttcttGgtttgctttcttctcttttg	5	18	9	9	1	4	1	1	0	3	1	5	2	4	1	1	2	1	3	1	2	0	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:52583479G>A	ENST00000395961.3	-	9	1482	c.1316C>T	c.(1315-1317)cCa>cTa	p.P439L	BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000371440.3_Missense_Mutation_p.P470L	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	439						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AGAGGTTCTTGGTTTGCTTTC	0.468													80	140					0	0	0	0	A	52583479	G	A	52583479	3	1	328	1	0	0	0	0	1	0	0	0	1354	1348	47	4	454	4	BCAS1	20	52583479	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2327528	52583479	10442041	2446	60660											
DOK5	55816	broad.mit.edu	37	chr20	53208341	53208341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggttcacttttgaggcagGgaggtgagtttaatgacttt	8	15	14	4	0	1	3	1	3	0	0	1	4	1	4	0	4	0	3	0	4	1	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:53208341G>A	ENST00000262593.5	+	5	946	c.596G>A	c.(595-597)gGg>gAg	p.G199E	DOK5_ENST00000395939.1_Missense_Mutation_p.G91E	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	199	IRS-type PTB.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			TTTGAGGCAGGGAGGTGAGTT	0.458													15	42					0	0	0	0	A	53208341	G	A	53208341	3	1	328	1	0	0	0	0	1	0	0	0	4736	1232	43	4	614	4	DOK5	20	53208341	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	624862	53208341	9817179	2447	60661											
BMP7	655	broad.mit.edu	37	chr20	55803323	55803323	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcacctgataaacgctgatCcggaacgtctcattgtcgaa	12	9	9	11	4	1	2	1	2	1	0	4	4	2	3	2	1	3	2	2	1	4	2	rs139592459	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:55803323C>T	ENST00000395863.3	-	2	1078	c.573G>A	c.(571-573)cgG>cgA	p.R191R	BMP7_ENST00000395864.3_Silent_p.R191R|BMP7_ENST00000450594.2_Silent_p.R191R	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	191					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			AAACGCTGATCCGGAACGTCT	0.552													64	113					0	0	0	0	T	55803323	C	T	55803323	2	4	328	1	0	0	0	0	0	0	0	1	1470	842	30	2		2	BMP7	20	55803323	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2594982	55803323	7222197	2448	60662											
SPO11	23626	broad.mit.edu	37	chr20	55905032	55905032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagggagcccccaactGggggaagccgcctggcctcc	6	4	16	15	1	0	0	0	0	0	0	1	2	1	2	6	5	3	1	6	5	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:55905032G>A	ENST00000371263.3	+	1	218	c.109G>A	c.(109-111)Ggg>Agg	p.G37R	SPO11_ENST00000345868.4_Missense_Mutation_p.G37R|SPO11_ENST00000371260.4_Missense_Mutation_p.G37R	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	37					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GCCCCCAACTGGGGGAAGCCG	0.677								Editing and processing nucleases					10	14					0	0	0	0	A	55905032	G	A	55905032	3	1	328	1	0	0	0	0	1	0	0	0	15167	1348	47	4	111	4	SPO11	20	55905032	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	101709	55905032	7120488	2449	60663											
PCK1	5105	broad.mit.edu	37	chr20	56139322	56139322	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatcaagaccatccagaaGaacacaatctttaccaatgt	16	8	5	12	0	2	3	1	0	1	3	3	3	3	3	4	0	2	0	4	0	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:56139322G>A	ENST00000319441.4	+	7	1223	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	PCK1_ENST00000535860.1_Silent_p.K221K|PCK1_ENST00000543666.1_Silent_p.K36K	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	353					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCATCCAGAAGAACACAATCT	0.527													30	42					0	0	0	0	A	56139322	G	A	56139322	2	1	328	1	0	0	0	0	0	0	0	1	11652	933	33	2		2	PCK1	20	56139322	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	234290	56139322	6886198	2450	60664											
GNAS	2778	broad.mit.edu	37	chr20	57429837	57429837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagccgcttctgccacccGggcagcccaagtccgccggg	5	4	12	20	4	1	0	0	0	1	0	2	0	2	0	7	2	3	2	7	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:57429837G>A	ENST00000371100.4	+	1	2069	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.R506Q|GNAS_ENST00000306120.3_Missense_Mutation_p.G443R|GNAS_ENST00000371102.4_Missense_Mutation_p.R506Q	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCTGCCACCCGGGCAGCCCAA	0.746			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			4	4					0	0	0	0	A	57429837	G	A	57429837	3	1	328	1	0	0	0	0	1	0	0	0	6561	1116	39	1	2261	1	GNAS	20	57429837	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1290515	57429837	5595683	2451	60665											
ZNF831	128611	broad.mit.edu	37	chr20	57769129	57769129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccacaggatgggagaaaaGgggcacagttggggggggac	11	3	21	6	0	0	1	0	0	0	1	0	4	0	3	1	9	0	2	1	9	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:57769129G>A	ENST00000371030.2	+	1	3055	c.3055G>A	c.(3055-3057)Ggg>Agg	p.G1019R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1019						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGGAGAAAAGGGGCACAGTT	0.667													9	19					0	0	0	0	A	57769129	G	A	57769129	3	1	328	1	0	0	0	0	1	0	0	0	18278	1000	35	4	3057	4	ZNF831	20	57769129	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	339292	57769129	5256391	2452	60666											
CDH4	1002	broad.mit.edu	37	chr20	60498647	60498647	+	Missense_Mutation	SNP	C	C	T																															tcatggacatcaacgaggctCcctacttcccctcaaaccac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:60498647C>T	ENST00000360469.5	+	10	1601	c.1513C>T	c.(1513-1515)Ccc>Tcc	p.P505S	CDH4_ENST00000543233.1_Missense_Mutation_p.P431S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	505	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CAACGAGGCTCCCTACTTCCC	0.617													7	24					0	0	0	0	T	60498647	C	T	60498647	3	4	328	1	0	0	0	0	1	0	0	0	3141	855	30	2	1551	2	CDH4	20	60498647	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2729518	60498647	2526873	2453	60667	708	2									
CDH4	1002	broad.mit.edu	37	chr20	60498648	60498648	+	Missense_Mutation	SNP	C	C	T																															catggacatcaacgaggctcCctacttcccctcaaaccaca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:60498648C>T	ENST00000360469.5	+	10	1602	c.1514C>T	c.(1513-1515)cCc>cTc	p.P505L	CDH4_ENST00000543233.1_Missense_Mutation_p.P431L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	505	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AACGAGGCTCCCTACTTCCCC	0.622													8	24					0	0	0	0	T	60498648	C	T	60498648	3	4	328	1	0	0	0	0	1	0	0	0	3141	623	22	4	1552	4	CDH4	20	60498648	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	60498648	2526872	2454	60668	708	2									
GATA5	140628	broad.mit.edu	37	chr20	61039979	61039979	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccgtggaggggaaggcAaagtcctcaggctcgaactt	9	6	17	9	2	1	0	1	0	0	0	3	3	2	2	2	7	1	2	2	7	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:61039979A>G	ENST00000252997.2	-	7	1168	c.1107T>C	c.(1105-1107)ttT>ttC	p.F369F		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	369					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			AGGGGAAGGCAAAGTCCTCAG	0.672													15	38					0	0	0	0	G	61039979	A	G	61039979	2	3	328	1	0	0	0	0	0	0	0	1	6306	127	5	5		5	GATA5	20	61039979	Silent	SNP	A	TCGA-CV-7568-01A-11D-2229-08	541331	61039979	1985541	2455	60669											
COL9A3	1299	broad.mit.edu	37	chr20	61468563	61468563	+	Missense_Mutation	SNP	G	G	A																															ttggtcaccctggcgctcgaGgaccccctggataccgcggt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:61468563G>A	ENST00000343916.3	+	30	1735	c.1732G>A	c.(1732-1734)Gga>Aga	p.G578R	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	578	Triple-helical region 2 (COL2).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TGGCGCTCGAGGACCCCCTGG	0.677													33	56					0	0	0	0	A	61468563	G	A	61468563	3	1	328	1	0	0	0	0	1	0	0	0	3739	1001	35	4	1850	4	COL9A3	20	61468563	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	428584	61468563	1556957	2456	60670	709	2									
COL9A3	1299	broad.mit.edu	37	chr20	61468564	61468564	+	Missense_Mutation	SNP	G	G	A																															tggtcaccctggcgctcgagGaccccctggataccgcggtc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:61468564G>A	ENST00000343916.3	+	30	1736	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	578	Triple-helical region 2 (COL2).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGCGCTCGAGGACCCCCTGGA	0.677													34	56					0	0	0	0	A	61468564	G	A	61468564	3	1	328	1	0	0	0	0	1	0	0	0	3739	1174	41	2	1851	2	COL9A3	20	61468564	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	61468564	1556956	2457	60671	709	2									
C20orf195	79025	broad.mit.edu	37	chr20	62187585	62187585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtcaagcaccgcctggtgtCtgatgtcagtgccaccaaga	9	8	11	13	2	3	2	2	1	1	1	3	2	3	2	4	1	2	1	4	1	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62187585C>T	ENST00000370098.3	+	2	661	c.569C>T	c.(568-570)tCt>tTt	p.S190F	C20orf195_ENST00000370097.1_Missense_Mutation_p.S190F	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	190										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGCCTGGTGTCTGATGTCAGT	0.642													52	94					0	0	0	0	T	62187585	C	T	62187585	3	4	328	1	0	0	0	0	1	0	0	0	2120	913	32	2	571	2	C20orf195	20	62187585	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	719021	62187585	837935	2458	60672											
GMEB2	26205	broad.mit.edu	37	chr20	62221767	62221767	+	Missense_Mutation	SNP	G	G	A																															ccccgagcagcggggaggccGgggagctggcggggggcgcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62221767G>A	ENST00000266068.1	-	9	1746	c.1268C>T	c.(1267-1269)cCg>cTg	p.P423L	GMEB2_ENST00000370077.1_Missense_Mutation_p.P423L|GMEB2_ENST00000370069.1_Missense_Mutation_p.P372L			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	423					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CGGGGAGGCCGGGGAGCTGGC	0.692													5	11					0	0	0	0	A	62221767	G	A	62221767	3	1	328	1	0	0	0	0	1	0	0	0	6539	1116	39	1	328	1	GMEB2	20	62221767	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	34182	62221767	803753	2459	60673	710	2									
GMEB2	26205	broad.mit.edu	37	chr20	62221768	62221768	+	Missense_Mutation	SNP	G	G	A																															cccgagcagcggggaggccgGggagctggcggggggcgcct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62221768G>A	ENST00000266068.1	-	9	1745	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S	GMEB2_ENST00000370077.1_Missense_Mutation_p.P423S|GMEB2_ENST00000370069.1_Missense_Mutation_p.P372S			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	423					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGGGAGGCCGGGGAGCTGGCG	0.692													5	11					0	0	0	0	A	62221768	G	A	62221768	3	1	328	1	0	0	0	0	1	0	0	0	6539	1232	43	4	329	4	GMEB2	20	62221768	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	62221768	803752	2460	60674	710	2									
ZBTB46	140685	broad.mit.edu	37	chr20	62421395	62421395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaaggcagctcgctccctCcgtactgagacggtgaaacc	10	6	11	14	3	0	3	0	2	0	2	3	4	2	3	3	2	3	4	3	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62421395C>T	ENST00000245663.4	-	2	866	c.716G>A	c.(715-717)gGa>gAa	p.G239E	ZBTB46_ENST00000395104.1_Missense_Mutation_p.G239E|ZBTB46_ENST00000302995.2_Missense_Mutation_p.G239E	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTCGCTCCCTCCGTACTGAGA	0.582													35	30					0	0	0	0	T	62421395	C	T	62421395	3	4	328	1	0	0	0	0	1	0	0	0	17642	855	30	2	1069	2	ZBTB46	20	62421395	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	199627	62421395	604125	2461	60675											
RGS19	10287	broad.mit.edu	37	chr20	62705289	62705289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggaagcgggggtaggagtCccggtgcatgagcgtgtaga	9	6	20	6	3	0	2	0	1	0	1	1	5	1	4	1	5	3	3	1	5	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62705289C>T	ENST00000395042.1	-	6	837	c.571G>A	c.(571-573)Gac>Aac	p.D191N	RGS19_ENST00000332298.5_Missense_Mutation_p.D191N	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	191	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGGTAGGAGTCCCGGTGCATG	0.662													34	66					0	0	0	0	T	62705289	C	T	62705289	3	4	328	1	0	0	0	0	1	0	0	0	13384	855	30	2	86	2	RGS19	20	62705289	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	283894	62705289	320231	2462	60676											
NPBWR2	2832	broad.mit.edu	37	chr20	62737767	62737767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccaggtatcggtccaCgctcatcacggctaggaagt	10	7	10	14	3	2	0	2	0	0	0	4	1	3	1	3	4	0	3	3	4	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62737767C>T	ENST00000369768.1	-	1	757	c.418G>A	c.(418-420)Gtg>Atg	p.V140M		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	140						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TATCGGTCCACGCTCATCACG	0.647													16	29					0	0	0	0	T	62737767	C	T	62737767	3	4	328	1	0	0	0	0	1	0	0	0	10639	536	19	1	586	1	NPBWR2	20	62737767	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	32478	62737767	287753	2463	60677											
MYT1	4661	broad.mit.edu	37	chr20	62854480	62854480	+	Missense_Mutation	SNP	T	T	C																															ccagctgtcccacccctggcTgtgacggcagcggccacatc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62854480T>C	ENST00000536311.1	+	15	2858	c.2494T>C	c.(2494-2496)Tgt>Cgt	p.C832R	MYT1_ENST00000360149.4_Missense_Mutation_p.C507R|MYT1_ENST00000328439.1_Missense_Mutation_p.C805R			Q01538	MYT1_HUMAN	myelin transcription factor 1	805					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACCCCTGGCTGTGACGGCAG	0.637													57	97					0	0	0	0	C	62854480	T	C	62854480	3	2	328	1	0	0	0	0	1	0	0	0	10176	1580	55	5	2463	5	MYT1	20	62854480	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	116713	62854480	171040	2464	60678	711	2									
MYT1	4661	broad.mit.edu	37	chr20	62854481	62854481	+	Missense_Mutation	SNP	G	G	T																															cagctgtcccacccctggctGtgacggcagcggccacatca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62854481G>T	ENST00000536311.1	+	15	2859	c.2495G>T	c.(2494-2496)tGt>tTt	p.C832F	MYT1_ENST00000360149.4_Missense_Mutation_p.C507F|MYT1_ENST00000328439.1_Missense_Mutation_p.C805F			Q01538	MYT1_HUMAN	myelin transcription factor 1	805					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACCCCTGGCTGTGACGGCAGC	0.642													57	97					2.67592e-24	2.73319e-24	1	0	T	62854481	G	T	62854481	3	4	328	1	0	0	0	0	1	0	0	0	10176	1377	48	4	2464	4	MYT1	20	62854481	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	62854481	171039	2465	60679	711	2									
TPTE	7179	broad.mit.edu	37	chr21	10934997	10934997	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atctagaaaccgcacaacttCctaaaaaagacaaacacata	21	6	3	11	1	1	2	0	0	1	2	2	2	2	2	2	0	3	1	2	0	8	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:10934997C>T	ENST00000298232.7	-	14	1109	c.741_splice	c.e14-1	p.E248_splice	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.E228_splice|TPTE_ENST00000361285.4_Splice_Site_p.E266_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	266	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGCACAACTTCCTAAAAAAGA	0.333													25	55					0	0	0	0	T	10934997	C	T	10934997	5	4	328	1	0	0	0	0	0	0	1	0	16525	869	30	2	899	2	TPTE	21	10934997	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08		10934997	37194898	2466	60680											
BAGE2	85319	broad.mit.edu	37	chr21	11047504	11047504	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcatttccagccgttggttgGtacagatttcataattcgtt	8	16	9	8	2	1	1	1	0	0	1	3	1	2	1	2	2	2	5	2	2	2	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:11047504G>A	ENST00000470054.1	-	0	750									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCGTTGGTTGGTACAGATTTC	0.343													19	235					0	0	0	0	A	11047504	G	A	11047504	1	1	328	0	1	0	0	0	0	0	0	0	1296	1276	44	4		4	BAGE2	21	11047504	RNA	SNP	G	TCGA-CV-7568-01A-11D-2229-08	112507	11047504	37082391	2467	60681											
GRIK1	2897	broad.mit.edu	37	chr21	31015182	31015182	+	Nonsense_Mutation	SNP	C	C	T																															ataaatctgggtccgaggcgCcatggcttatgtctatggca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:31015182C>T	ENST00000399914.1	-	7	1583	c.1062G>A	c.(1060-1062)tgG>tgA	p.W354*	GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W354*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W354*|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W354*|GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W354*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W354*			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	354					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTCCGAGGCGCCATGGCTTAT	0.577													31	14					0	0	0	0	T	31015182	C	T	31015182	4	4	328	1	0	0	0	0	0	1	0	0	6823	740	26	4	1898	4	GRIK1	21	31015182	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	19967678	31015182	17114713	2468	60682	712	2									
GRIK1	2897	broad.mit.edu	37	chr21	31015183	31015183	+	Nonsense_Mutation	SNP	C	C	T																															taaatctgggtccgaggcgcCatggcttatgtctatggcac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:31015183C>T	ENST00000399914.1	-	7	1582	c.1061G>A	c.(1060-1062)tGg>tAg	p.W354*	GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W354*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W354*|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W354*|GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W354*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W354*			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	354					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCCGAGGCGCCATGGCTTATG	0.582													30	14					0	0	0	0	T	31015183	C	T	31015183	4	4	328	1	0	0	0	0	0	1	0	0	6823	595	21	4	1899	4	GRIK1	21	31015183	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	31015183	17114712	2469	60683	712	2									
CLDN17	26285	broad.mit.edu	37	chr21	31538400	31538400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaatccacaaagcagacccCctccaatgaagaggacagca	18	3	7	13	0	0	3	0	1	0	2	2	4	2	4	4	1	2	2	4	1	5	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:31538400C>T	ENST00000286808.3	-	1	571	c.536G>A	c.(535-537)gGg>gAg	p.G179E		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	179					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						AAGCAGACCCCCTCCAATGAA	0.512													7	40					0	0	0	0	T	31538400	C	T	31538400	3	4	328	1	0	0	0	0	1	0	0	0	3508	623	22	4	142	4	CLDN17	21	31538400	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	523217	31538400	16591495	2470	60684											
SLC5A3	6526	broad.mit.edu	37	chr21	35468332	35468332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtatggtactggtgtgctGaccaagtcatcgtgcagagg	9	10	14	8	1	1	2	1	1	0	1	2	2	1	2	1	3	3	4	1	3	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:35468332G>A	ENST00000381151.3	+	2	1347	c.835G>A	c.(835-837)Gac>Aac	p.D279N	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	279						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CTGGTGTGCTGACCAAGTCAT	0.488													44	22					0	0	0	0	A	35468332	G	A	35468332	3	1	328	1	0	0	0	0	1	0	0	0	14754	1290	45	2	837	2	SLC5A3	21	35468332	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3929932	35468332	12661563	2471	60685											
CHAF1B	8208	broad.mit.edu	37	chr21	37785504	37785504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtcaaaagccccttgccgGggccttcggaggagaagacc	9	6	13	13	2	1	2	1	0	0	2	2	4	1	3	5	4	2	0	5	4	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:37785504G>A	ENST00000314103.4	+	12	1535	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	462					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CCCCTTGCCGGGGCCTTCGGA	0.627													23	5					0	0	0	0	A	37785504	G	A	37785504	3	1	328	1	0	0	0	0	1	0	0	0	3341	1232	43	4	1426	4	CHAF1B	21	37785504	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2317172	37785504	10344391	2472	60686											
SIM2	6493	broad.mit.edu	37	chr21	38072052	38072052	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggagccgaggcgcgatgaaGgagaagtccaagaatgcggc	12	3	17	9	5	0	3	0	1	0	2	1	7	1	4	2	4	2	0	2	4	4	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:38072052G>A	ENST00000290399.6	+	1	619	c.6G>A	c.(4-6)aaG>aaA	p.K2K	AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000430056.3_Silent_p.K2K|SIM2_ENST00000460783.1_3'UTR	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	2					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GCGCGATGAAGGAGAAGTCCA	0.672													14	3					0	0	0	0	A	38072052	G	A	38072052	2	1	328	1	0	0	0	0	0	0	0	1	14412	991	35	4		4	SIM2	21	38072052	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	286548	38072052	10057843	2473	60687											
IGSF5	150084	broad.mit.edu	37	chr21	41165472	41165472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttgcagacaccgcttctCtccctcccaaatcctgtgaa	8	11	6	16	1	1	2	0	1	1	1	5	2	4	2	4	0	1	3	4	0	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:41165472C>T	ENST00000380588.4	+	8	1163	c.1060C>T	c.(1060-1062)Ctc>Ttc	p.L354F		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	354						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CACCGCTTCTCTCCCTCCCAA	0.423													54	28					0	0	0	0	T	41165472	C	T	41165472	3	4	328	1	0	0	0	0	1	0	0	0	7655	913	32	2	1090	2	IGSF5	21	41165472	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3093420	41165472	6964423	2474	60688											
SLC37A1	54020	broad.mit.edu	37	chr21	43979139	43979139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgaaccacgtcgtcattctCcccggggacggtgggagtgg	6	7	15	13	5	2	0	1	0	1	0	4	3	2	2	4	5	1	0	4	5	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:43979139C>T	ENST00000352133.2	+	11	1903	c.921C>T	c.(919-921)ctC>ctT	p.L307L	SLC37A1_ENST00000398341.3_Silent_p.L307L			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	307					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TCGTCATTCTCCCCGGGGACG	0.577													23	9					0	0	0	0	T	43979139	C	T	43979139	2	4	328	1	0	0	0	0	0	0	0	1	14685	842	30	2		2	SLC37A1	21	43979139	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2813667	43979139	4150756	2475	60689											
TRPM2	7226	broad.mit.edu	37	chr21	45819234	45819234	+	Silent	SNP	C	C	T																															agagcccagaaactgctcacCcgcgtgtccgaggcctgggg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:45819234C>T	ENST00000397928.1	+	14	2563	c.2118C>T	c.(2116-2118)acC>acT	p.T706T	TRPM2_ENST00000397932.2_Silent_p.T706T|TRPM2_ENST00000300482.5_Silent_p.T706T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.T686T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	706						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AACTGCTCACCCGCGTGTCCG	0.627													34	18					0	0	0	0	T	45819234	C	T	45819234	2	4	328	1	0	0	0	0	0	0	0	1	16681	610	22	4		4	TRPM2	21	45819234	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1840095	45819234	2310661	2476	60690	713	2									
TRPM2	7226	broad.mit.edu	37	chr21	45819235	45819235	+	Missense_Mutation	SNP	C	C	T																															gagcccagaaactgctcaccCgcgtgtccgaggcctggggg																								rs139554968		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:45819235C>T	ENST00000397928.1	+	14	2564	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	TRPM2_ENST00000397932.2_Missense_Mutation_p.R707C|TRPM2_ENST00000300482.5_Missense_Mutation_p.R707C|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R687C	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	707						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACTGCTCACCCGCGTGTCCGA	0.622													33	18					0	0	0	0	T	45819235	C	T	45819235	3	4	328	1	0	0	0	0	1	0	0	0	16681	652	23	1	2173	1	TRPM2	21	45819235	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	45819235	2310660	2477	60691	713	2									
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978264	45978264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agacaggcttgcagcagacgGgcacacagcagactggcttg	11	5	14	11	1	0	3	0	0	0	3	0	3	0	3	0	3	3	6	0	3	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:45978264G>A	ENST00000391620.1	-	1	379	c.335C>T	c.(334-336)cCc>cTc	p.P112L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	112	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						gcagcagacgggcacacagca	0.647													102	52					0	0	0	0	A	45978264	G	A	45978264	3	1	328	1	0	0	0	0	1	0	0	0	8562	1232	43	4	334	4	KRTAP10-3	21	45978264	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	159029	45978264	2151631	2478	60692											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46021343	46021343	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggctgctgcgtgcccgtCtgctgtaagcctgtgtgctg	3	11	15	12	2	1	0	0	0	1	0	1	0	1	0	2	1	6	5	2	1	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:46021343C>T	ENST00000380102.2	+	1	847	c.822C>T	c.(820-822)gtC>gtT	p.V274V	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	274	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGTGCCCGTCTGCTGTAAGC	0.627													91	50					0	0	0	0	T	46021343	C	T	46021343	2	4	328	1	0	0	0	0	0	0	0	1	8566	900	32	2		2	KRTAP10-7	21	46021343	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	43079	46021343	2108552	2479	60693											
ITGB2	3689	broad.mit.edu	37	chr21	46320382	46320382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcgtgacgttgcgccagccGatttcctcctgagaagaagg	8	8	13	12	5	0	3	0	2	0	2	2	5	2	3	4	1	2	1	4	1	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:46320382G>A	ENST00000397850.2	-	8	1202	c.750C>T	c.(748-750)atC>atT	p.I250I	ITGB2_ENST00000397852.1_Silent_p.I250I|ITGB2_ENST00000397854.3_Silent_p.I193I|ITGB2_ENST00000397857.1_Silent_p.I250I|ITGB2_ENST00000302347.5_Silent_p.I250I|ITGB2_ENST00000355153.4_Silent_p.I250I			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	250	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGCGCCAGCCGATTTCCTCCT	0.647													35	15					0	0	0	0	A	46320382	G	A	46320382	2	1	328	1	0	0	0	0	0	0	0	1	7947	1048	37	1		1	ITGB2	21	46320382	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	299039	46320382	1809513	2480	60694											
PCBP3	54039	broad.mit.edu	37	chr21	47349871	47349871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttggccatgcagcaaacccCctttcctcccctcggacaga	8	8	8	17	1	0	1	0	0	0	1	3	2	2	2	6	2	3	3	6	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47349871C>T	ENST00000400314.1	+	12	1096	c.758C>T	c.(757-759)cCc>cTc	p.P253L	PCBP3_ENST00000400310.1_Missense_Mutation_p.P253L|PCBP3_ENST00000449640.1_Missense_Mutation_p.P253L|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400309.1_Missense_Mutation_p.P252L|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400308.1_Missense_Mutation_p.P227L|PCBP3_ENST00000400304.1_Missense_Mutation_p.P243L			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	253					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAGCAAACCCCCTTTCCTCCC	0.552													66	23					0	0	0	0	T	47349871	C	T	47349871	3	4	328	1	0	0	0	0	1	0	0	0	11573	623	22	4	796	4	PCBP3	21	47349871	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1029489	47349871	780024	2481	60695											
COL6A1	1291	broad.mit.edu	37	chr21	47422152	47422152	+	Nonsense_Mutation	SNP	G	G	A																															agccatcaagagcctgcagtGgatggcgggcggcaccttca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47422152G>A	ENST00000361866.3	+	32	2201	c.2087G>A	c.(2086-2088)tGg>tAg	p.W696*	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	696	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGCCTGCAGTGGATGGCGGGC	0.697													5	3					0	0	0	0	A	47422152	G	A	47422152	4	1	328	1	0	0	0	0	0	1	0	0	3729	1357	47	4	2213	4	COL6A1	21	47422152	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	72281	47422152	707743	2482	60696	714	2									
COL6A1	1291	broad.mit.edu	37	chr21	47422153	47422153	+	Nonsense_Mutation	SNP	G	G	A																															gccatcaagagcctgcagtgGatggcgggcggcaccttcac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47422153G>A	ENST00000361866.3	+	32	2202	c.2088G>A	c.(2086-2088)tgG>tgA	p.W696*	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	696	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCCTGCAGTGGATGGCGGGCG	0.697													5	3					0	0	0	0	A	47422153	G	A	47422153	4	1	328	1	0	0	0	0	0	1	0	0	3729	1183	41	2	2214	2	COL6A1	21	47422153	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	47422153	707742	2483	60697	714	2									
MCM3AP	8888	broad.mit.edu	37	chr21	47678977	47678977	+	Missense_Mutation	SNP	G	G	A																															ctcacagcaacgggccacacGgaccctctggtctgtctcta																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47678977G>A	ENST00000397708.1	-	17	3864	c.3610C>T	c.(3610-3612)Cgt>Tgt	p.R1204C	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R1204C|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1204					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CGGGCCACACGGACCCTCTGG	0.537													5	85					0	0	0	0	A	47678977	G	A	47678977	3	1	328	1	0	0	0	0	1	0	0	0	9457	1116	39	1	2384	1	MCM3AP	21	47678977	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	256824	47678977	450918	2484	60698	715	2									
MCM3AP	8888	broad.mit.edu	37	chr21	47678978	47678978	+	Silent	SNP	G	G	A																															tcacagcaacgggccacacgGaccctctggtctgtctctac																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47678978G>A	ENST00000397708.1	-	17	3863	c.3609C>T	c.(3607-3609)gtC>gtT	p.V1203V	MCM3AP_ENST00000291688.1_Silent_p.V1203V|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1203					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGGCCACACGGACCCTCTGGT	0.537													5	85					0	0	0	0	A	47678978	G	A	47678978	2	1	328	1	0	0	0	0	0	0	0	1	9457	1161	41	2		2	MCM3AP	21	47678978	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	47678978	450917	2485	60699	715	2									
MCM3AP	8888	broad.mit.edu	37	chr21	47692669	47692669	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacatgaagtgggcacaGtggatgtgaaaccgggtgca	12	7	14	8	1	1	2	1	2	0	0	1	3	1	3	1	3	2	2	1	3	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47692669G>A	ENST00000397708.1	-	9	2525	c.2271C>T	c.(2269-2271)caC>caT	p.H757H	MCM3AP_ENST00000291688.1_Silent_p.H757H			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	757					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGTGGGCACAGTGGATGTGAA	0.552													64	33					0	0	0	0	A	47692669	G	A	47692669	2	1	328	1	0	0	0	0	0	0	0	1	9457	1020	36	4		4	MCM3AP	21	47692669	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	13691	47692669	437226	2486	60700											
GAB4	128954	broad.mit.edu	37	chr22	17472911	17472911	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgaatctccttcttgttGaagttcagagtcacatcaac	10	15	6	10	0	6	3	3	2	3	1	7	3	6	3	1	0	1	2	1	0	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:17472911G>A	ENST00000400588.1	-	2	437	c.330C>T	c.(328-330)ttC>ttT	p.F110F	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	110	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CCTTCTTGTTGAAGTTCAGAG	0.483													105	162					0	0	0	0	A	17472911	G	A	17472911	2	1	328	1	0	0	0	0	0	0	0	1	6199	1281	45	2		2	GAB4	22	17472911	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08		17472911	33831655	2487	60701											
GAB4	128954	broad.mit.edu	37	chr22	17488983	17488983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcacagctcccgggaggGtgagggggacggcagggaca	8	3	21	9	2	0	1	0	1	0	0	1	4	1	4	1	7	1	3	1	7	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:17488983G>A	ENST00000400588.1	-	1	129	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	8										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCCCGGGAGGGTGAGGGGGAC	0.687													11	9					0	0	0	0	A	17488983	G	A	17488983	3	1	328	1	0	0	0	0	1	0	0	0	6199	1261	44	4	1742	4	GAB4	22	17488983	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	16072	17488983	33815583	2488	60702											
HIRA	7290	broad.mit.edu	37	chr22	19363264	19363264	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgggttcgatcttggacggGgtcgttaacacagaaggtga	10	10	15	6	3	1	2	0	1	1	1	3	4	1	3	0	5	1	2	0	5	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:19363264G>A	ENST00000263208.5	-	15	1921	c.1665C>T	c.(1663-1665)acC>acT	p.T555T	HIRA_ENST00000546308.1_Silent_p.T511T|HIRA_ENST00000541063.1_Silent_p.T511T|HIRA_ENST00000340170.4_Silent_p.T555T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	555	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TCTTGGACGGGGTCGTTAACA	0.547													21	37					0	0	0	0	A	19363264	G	A	19363264	2	1	328	1	0	0	0	0	0	0	0	1	7170	1219	43	4		4	HIRA	22	19363264	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1874281	19363264	31941302	2489	60703											
ZDHHC8	29801	broad.mit.edu	37	chr22	20129013	20129013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caagtttaggccggctttccCcacgggtcccaaggtgccct	6	9	11	15	2	0	0	0	0	0	0	2	0	2	0	5	4	1	2	5	4	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20129013C>T	ENST00000334554.7	+	9	1226	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L	ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P270L|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.P362L	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	362						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCGGCTTTCCCCACGGGTCCC	0.657													9	21					0	0	0	0	T	20129013	C	T	20129013	3	4	328	1	0	0	0	0	1	0	0	0	17716	623	22	4	1119	4	ZDHHC8	22	20129013	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	765749	20129013	31175553	2490	60704											
RTN4R	65078	broad.mit.edu	37	chr22	20229530	20229530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagtcattgatgtgccgtgGgccagagccgttgcccggcg	5	9	16	11	4	1	3	1	2	0	1	1	3	1	3	4	2	3	1	4	2	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20229530G>A	ENST00000043402.7	-	2	1564	c.1126C>T	c.(1126-1128)Cca>Tca	p.P376S		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	376					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					ATGTGCCGTGGGCCAGAGCCG	0.682													21	41					0	0	0	0	A	20229530	G	A	20229530	3	1	328	1	0	0	0	0	1	0	0	0	13815	1232	43	4	299	4	RTN4R	22	20229530	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	100517	20229530	31075036	2491	60705											
RIMBP3	85376	broad.mit.edu	37	chr22	20457160	20457160	+	Missense_Mutation	SNP	T	T	A																															agcacagtgcctcctgctccTccttcaaaacgttatggaag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20457160T>A	ENST00000426804.1	-	1	4626	c.4142A>T	c.(4141-4143)gAg>gTg	p.E1381V		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CTCCTGCTCCTCCTTCAAAAC	0.592													9	16					0	0	0	0	A	20457160	T	A	20457160	3	1	328	1	0	0	0	0	1	0	0	0	13447	1551	54	5	781	5	RIMBP3	22	20457160	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	227630	20457160	30847406	2492	60706	716	2									
RIMBP3	85376	broad.mit.edu	37	chr22	20457162	20457162	+	Silent	SNP	C	C	T																															cacagtgcctcctgctcctcCttcaaaacgttatggaagtc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20457162C>T	ENST00000426804.1	-	1	4624	c.4140G>A	c.(4138-4140)aaG>aaA	p.K1380K		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CCTGCTCCTCCTTCAAAACGT	0.587													9	16					0	0	0	0	T	20457162	C	T	20457162	2	4	328	1	0	0	0	0	0	0	0	1	13447	680	24	4		4	RIMBP3	22	20457162	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2	20457162	30847404	2493	60707	716	2									
ZNF74	7625	broad.mit.edu	37	chr22	20761140	20761140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcagcctgctgggtgcagGggatgctggactgagggacg	6	7	20	8	1	0	1	0	1	0	0	0	4	0	4	1	6	4	4	1	6	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20761140G>A	ENST00000400451.2	+	5	2331	c.1817G>A	c.(1816-1818)gGg>gAg	p.G606E	ZNF74_ENST00000356671.5_Missense_Mutation_p.G606E|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.G574E	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	606					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ctgggtgcaggggatgctgga	0.617													16	36					0	0	0	0	A	20761140	G	A	20761140	3	1	328	1	0	0	0	0	1	0	0	0	18221	1232	43	4	1835	4	ZNF74	22	20761140	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	303978	20761140	30543426	2494	60708											
SCARF2	91179	broad.mit.edu	37	chr22	20784021	20784021	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccctcatccacttacctagGtggcaggcaccagtgaccgg	8	7	10	16	1	1	1	1	1	0	0	2	1	2	1	6	4	1	2	6	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20784021G>A	ENST00000405555.3	-	7	1372	c.1302C>T	c.(1300-1302)caC>caT	p.H434H	SCARF2_ENST00000266214.5_Silent_p.H434H	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	434					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACTTACCTAGGTGGCAGGCAC	0.652													49	66					0	0	0	0	A	20784021	G	A	20784021	2	1	328	1	0	0	0	0	0	0	0	1	13970	1252	44	4		4	SCARF2	22	20784021	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	22881	20784021	30520545	2495	60709											
LZTR1	8216	broad.mit.edu	37	chr22	21351208	21351208	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgacaaaacgcaggcactgGacatgaagcggcactgcctg	12	5	12	12	2	0	2	0	2	0	0	0	3	0	3	1	3	3	3	1	3	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:21351208G>C	ENST00000215739.8	+	20	2718	c.2359G>C	c.(2359-2361)Gac>Cac	p.D787H	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.D768H	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	787					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCAGGCACTGGACATGAAGCG	0.607													25	31					0	0	0	0	C	21351208	G	C	21351208	3	2	328	1	0	0	0	0	1	0	0	0	9202	1174	41	2	2437	2	LZTR1	22	21351208	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	567187	21351208	29953358	2496	60710											
MYO18B	84700	broad.mit.edu	37	chr22	26423575	26423575	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagcgaacgtcccccgagcgGagagagccagggacggggag	10	1	19	11	5	0	1	0	0	0	1	1	8	1	4	3	4	4	0	3	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:26423575G>A	ENST00000335473.7	+	43	7885	c.7635G>A	c.(7633-7635)cgG>cgA	p.R2545R	MYO18B_ENST00000407587.2_Silent_p.R2546R|MYO18B_ENST00000536101.1_Silent_p.R2545R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2545						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCCCGAGCGGAGAGAGCCAG	0.562													10	21					0	0	0	0	A	26423575	G	A	26423575	2	1	328	1	0	0	0	0	0	0	0	1	10136	1161	41	2		2	MYO18B	22	26423575	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5072367	26423575	24880991	2497	60711											
SEZ6L	23544	broad.mit.edu	37	chr22	26688598	26688598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgctgcttccagaggaggcCcgccccaagcacgccttgcc	6	5	11	19	3	0	1	0	0	0	1	1	2	1	2	7	2	3	3	7	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:26688598C>T	ENST00000529632.2	+	2	517	c.321C>T	c.(319-321)gcC>gcT	p.A107A	SEZ6L_ENST00000360929.3_Silent_p.A107A|SEZ6L_ENST00000248933.6_Silent_p.A107A|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Silent_p.A107A|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.A107A	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	107						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGAGGAGGCCCGCCCCAAGC	0.652													13	16					0	0	0	0	T	26688598	C	T	26688598	2	4	328	1	0	0	0	0	0	0	0	1	14230	610	22	4		4	SEZ6L	22	26688598	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	265023	26688598	24615968	2498	60712											
ZNRF3	84133	broad.mit.edu	37	chr22	29445853	29445853	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctccggccagtgccacTgttcctccagtgactctgtg	5	10	11	15	1	1	1	0	1	1	0	4	1	4	1	5	1	2	3	5	1	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29445853T>A	ENST00000544604.2	+	8	1859	c.1684T>A	c.(1684-1686)Tgt>Agt	p.C562S	ZNRF3_ENST00000332811.4_Missense_Mutation_p.C462S|ZNRF3_ENST00000402174.1_Missense_Mutation_p.C462S|ZNRF3_ENST00000406323.3_Missense_Mutation_p.C462S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	562						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCAGTGCCACTGTTCCTCCAG	0.637													37	38					0	0	0	0	A	29445853	T	A	29445853	3	1	328	1	0	0	0	0	1	0	0	0	18306	1580	55	5	1410	5	ZNRF3	22	29445853	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	2757255	29445853	21858713	2499	60713											
EMID1	129080	broad.mit.edu	37	chr22	29621205	29621205	+	Splice_Site	SNP	G	G	A																															ttcggcccacagccttctcaGgtgggtcctgggatagcttc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29621205G>A	ENST00000334018.6	+	4	591	c.403_splice	c.e4+1	p.G135_splice	EMID1_ENST00000404820.3_Splice_Site_p.G135_splice|EMID1_ENST00000404755.3_Splice_Site_p.G135_splice|EMID1_ENST00000484039.1_3'UTR	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	133						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						AGCCTTCTCAGGTGGGTCCTG	0.622													23	39					0	0	0	0	A	29621205	G	A	29621205	5	1	328	1	0	0	0	0	0	0	1	0	5129	1014	35	4	417	4	EMID1	22	29621205	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	175352	29621205	21683361	2500	60714	717	2									
EMID1	129080	broad.mit.edu	37	chr22	29621206	29621206	+	Splice_Site	SNP	G	G	A																															tcggcccacagccttctcagGtgggtcctgggatagcttct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29621206G>A	ENST00000334018.6	+	4	591		c.e4+1		EMID1_ENST00000404820.3_Splice_Site|EMID1_ENST00000404755.3_Splice_Site|EMID1_ENST00000484039.1_Splice_Site	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1							collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GCCTTCTCAGGTGGGTCCTGG	0.622													24	40					0	0	0	0	A	29621206	G	A	29621206	5	1	328	1	0	0	0	0	0	0	1	0	5129	1275	44	4	418	4	EMID1	22	29621206	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	29621206	21683360	2501	60715	717	2									
GAS2L1	10634	broad.mit.edu	37	chr22	29708406	29708406	+	Missense_Mutation	SNP	C	C	T																															cgcctcggggcccccgccgcCcctccggacccgcagagctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29708406C>T	ENST00000406549.3	+	6	1435	c.1285C>T	c.(1285-1287)Ccc>Tcc	p.P429S	GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407647.2_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	656					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCCCCGCCGCCCCTCCGGACC	0.672													12	19					0	0	0	0	T	29708406	C	T	29708406	3	4	328	1	0	0	0	0	1	0	0	0	6295	610	22	4	1987	4	GAS2L1	22	29708406	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	87200	29708406	21596160	2502	60716	718	2									
GAS2L1	10634	broad.mit.edu	37	chr22	29708407	29708407	+	Missense_Mutation	SNP	C	C	T																															gcctcggggcccccgccgccCctccggacccgcagagctgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29708407C>T	ENST00000406549.3	+	6	1436	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407647.2_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	656					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCCCGCCGCCCCTCCGGACCC	0.672													12	19					0	0	0	0	T	29708407	C	T	29708407	3	4	328	1	0	0	0	0	1	0	0	0	6295	623	22	4	1988	4	GAS2L1	22	29708407	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	29708407	21596159	2503	60717	718	2									
RFPL1	5988	broad.mit.edu	37	chr22	29834826	29834826	+	Missense_Mutation	SNP	G	G	A																															ctaacaggctttcacctcacGgaaattttcttcccttgtgc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29834826G>A	ENST00000354373.2	+	1	255	c.46G>A	c.(46-48)Gga>Aga	p.G16R	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	16							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TTCACCTCACGGAAATTTTCT	0.463													44	74					0	0	0	0	A	29834826	G	A	29834826	3	1	328	1	0	0	0	0	1	0	0	0	13335	1117	39	1	48	1	RFPL1	22	29834826	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	126419	29834826	21469740	2504	60718	719	2									
RFPL1	5988	broad.mit.edu	37	chr22	29834827	29834827	+	Missense_Mutation	SNP	G	G	A																															taacaggctttcacctcacgGaaattttcttcccttgtgca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29834827G>A	ENST00000354373.2	+	1	256	c.47G>A	c.(46-48)gGa>gAa	p.G16E	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	16							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCACCTCACGGAAATTTTCTT	0.463													45	74					0	0	0	0	A	29834827	G	A	29834827	3	1	328	1	0	0	0	0	1	0	0	0	13335	1174	41	2	49	2	RFPL1	22	29834827	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	29834827	21469739	2505	60719	719	2									
RFPL1	5988	broad.mit.edu	37	chr22	29837928	29837928	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcatgcagaacgtttcCttttttgatgctgaaggtgg	8	14	13	6	1	0	3	0	2	0	1	1	3	1	3	1	3	3	4	1	3	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29837928C>T	ENST00000354373.2	+	2	980	c.771C>T	c.(769-771)tcC>tcT	p.S257S	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	257	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						AGAACGTTTCCTTTTTTGATG	0.512													5	74					0	0	0	0	T	29837928	C	T	29837928	2	4	328	1	0	0	0	0	0	0	0	1	13335	668	24	4		4	RFPL1	22	29837928	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3101	29837928	21466638	2506	60720											
RFPL1	5988	broad.mit.edu	37	chr22	29837951	29837951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttttgatgctgaaggtggttCccatgtctatacattcagga	9	15	10	7	0	2	2	1	2	1	0	3	3	3	3	1	3	2	2	1	3	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29837951C>T	ENST00000354373.2	+	2	1003	c.794C>T	c.(793-795)tCc>tTc	p.S265F	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	265	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GAAGGTGGTTCCCATGTCTAT	0.473													27	45					0	0	0	0	T	29837951	C	T	29837951	3	4	328	1	0	0	0	0	1	0	0	0	13335	855	30	2	800	2	RFPL1	22	29837951	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	23	29837951	21466615	2507	60721											
MTMR3	8897	broad.mit.edu	37	chr22	30416011	30416011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccccccaggggagaggattCcctggaggtccctgtggagc	6	6	15	14	0	0	1	0	0	0	1	2	5	2	4	5	6	1	0	5	6	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:30416011C>T	ENST00000333027.3	+	17	2691	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.S788F|MTMR3_ENST00000323630.5_Missense_Mutation_p.S652F|MTMR3_ENST00000401950.2_Missense_Mutation_p.S788F|MTMR3_ENST00000351488.3_Missense_Mutation_p.S788F	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	788					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGAGAGGATTCCCTGGAGGTC	0.532													38	54					0	0	0	0	T	30416011	C	T	30416011	3	4	328	1	0	0	0	0	1	0	0	0	10015	855	30	2	2421	2	MTMR3	22	30416011	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	578060	30416011	20888555	2508	60722											
MTMR3	8897	broad.mit.edu	37	chr22	30416043	30416043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtggagcagtttcgaataGaagagattgcagagggtagg	12	9	16	4	1	0	3	0	0	0	3	1	6	0	4	0	3	2	4	0	3	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:30416043G>A	ENST00000333027.3	+	17	2723	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.E799K|MTMR3_ENST00000323630.5_Missense_Mutation_p.E663K|MTMR3_ENST00000401950.2_Missense_Mutation_p.E799K|MTMR3_ENST00000351488.3_Missense_Mutation_p.E799K	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	799					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTTTCGAATAGAAGAGATTGC	0.527													36	41					0	0	0	0	A	30416043	G	A	30416043	3	1	328	1	0	0	0	0	1	0	0	0	10015	943	33	2	2453	2	MTMR3	22	30416043	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	32	30416043	20888523	2509	60723											
SF3A1	10291	broad.mit.edu	37	chr22	30736230	30736230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcttctcacggatggagcGatcccgctgctccagccagc	6	8	11	16	3	1	0	1	0	1	0	4	3	3	2	3	2	5	3	3	2	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:30736230G>A	ENST00000439242.1	-	9	1266	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C	SF3A1_ENST00000215793.7_Missense_Mutation_p.R444C	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	444					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CGGATGGAGCGATCCCGCTGC	0.572													8	10					0	0	0	0	A	30736230	G	A	30736230	3	1	328	1	0	0	0	0	1	0	0	0	14233	1058	37	1	1083	1	SF3A1	22	30736230	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	320187	30736230	20568336	2510	60724											
PLA2G3	50487	broad.mit.edu	37	chr22	31536191	31536191	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccagtccctgagcatcCttggccaggaagctcaggta	9	7	13	12	0	1	1	1	1	0	0	3	2	3	2	4	4	2	3	4	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:31536191C>T	ENST00000215885.3	-	1	402	c.150G>A	c.(148-150)aaG>aaA	p.K50K		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	50					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCTGAGCATCCTTGGCCAGGA	0.662													29	75					0	0	0	0	T	31536191	C	T	31536191	2	4	328	1	0	0	0	0	0	0	0	1	12072	680	24	4		4	PLA2G3	22	31536191	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	799961	31536191	19768375	2511	60725											
RFPL2	10739	broad.mit.edu	37	chr22	32586942	32586942	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactttcagcatcaaaaaaGgaaacgttctgcatgcccat	14	9	6	12	1	3	0	2	0	1	0	3	1	3	1	2	1	4	3	2	1	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:32586942G>A	ENST00000400236.3	-	5	1889	c.684C>T	c.(682-684)tcC>tcT	p.S228S	RFPL2_ENST00000248980.4_Silent_p.S257S|RFPL2_ENST00000248983.4_Silent_p.S228S|RFPL2_ENST00000400237.1_Silent_p.S318S|RFPL2_ENST00000489846.1_5'UTR	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	318	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CATCAAAAAAGGAAACGTTCT	0.512													13	45					0	0	0	0	A	32586942	G	A	32586942	2	1	328	1	0	0	0	0	0	0	0	1	13336	987	35	4		4	RFPL2	22	32586942	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1050751	32586942	18717624	2512	60726											
HMOX1	3162	broad.mit.edu	37	chr22	35783126	35783126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactcccgcagtcaggcagaGggtgatagaagaggccaaga	13	4	15	9	1	1	5	1	1	0	4	2	6	2	5	2	3	0	2	2	3	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:35783126G>A	ENST00000216117.8	+	3	932	c.593G>A	c.(592-594)aGg>aAg	p.R198K		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	198					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	GTCAGGCAGAGGGTGATAGAA	0.607													22	53					0	0	0	0	A	35783126	G	A	35783126	3	1	328	1	0	0	0	0	1	0	0	0	7293	1000	35	4	603	4	HMOX1	22	35783126	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3196184	35783126	15521440	2513	60727											
APOL5	80831	broad.mit.edu	37	chr22	36123124	36123124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagcacttgctaagaagctgGagcaggagctggaccggctc	10	6	15	10	1	0	1	0	0	0	1	1	5	0	4	1	4	5	6	1	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:36123124G>A	ENST00000249044.2	+	3	1009	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	337					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TAAGAAGCTGGAGCAGGAGCT	0.622													16	27					0	0	0	0	A	36123124	G	A	36123124	3	1	328	1	0	0	0	0	1	0	0	0	811	1175	41	2	1019	2	APOL5	22	36123124	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	339998	36123124	15181442	2514	60728											
APOL3	80833	broad.mit.edu	37	chr22	36537676	36537676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaaataccttcaatcggtCaatgctggttgcagtcagcc	10	12	8	11	1	3	0	3	0	0	0	4	0	3	0	2	2	4	3	2	2	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:36537676C>T	ENST00000424878.2	-	4	2329	c.181G>A	c.(181-183)Gac>Aac	p.D61N	APOL3_ENST00000361710.2_Missense_Mutation_p.D61N|APOL3_ENST00000349314.2_Missense_Mutation_p.D261N|APOL3_ENST00000397287.2_Missense_Mutation_p.D61N|APOL3_ENST00000397293.2_Missense_Mutation_p.D190N			O95236	APOL3_HUMAN	apolipoprotein L, 3	261					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TTCAATCGGTCAATGCTGGTT	0.473													28	46					0	0	0	0	T	36537676	C	T	36537676	3	4	328	1	0	0	0	0	1	0	0	0	809	826	29	2	431	2	APOL3	22	36537676	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	414552	36537676	14766890	2515	60729											
CSF2RB	1439	broad.mit.edu	37	chr22	37325496	37325496	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcaccgaccaggaccacttCctgctgacctggagtgtggc	8	7	12	14	1	0	1	0	1	0	0	1	4	1	3	5	3	2	2	5	3	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:37325496C>T	ENST00000262825.5	+	5	661	c.444C>T	c.(442-444)ttC>ttT	p.F148F	CSF2RB_ENST00000406230.1_Silent_p.F148F|CSF2RB_ENST00000536485.1_Silent_p.F89F|CSF2RB_ENST00000403662.3_Silent_p.F148F	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	148	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGGACCACTTCCTGCTGACCT	0.632													47	104					0	0	0	0	T	37325496	C	T	37325496	2	4	328	1	0	0	0	0	0	0	0	1	3967	854	30	2		2	CSF2RB	22	37325496	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	787820	37325496	13979070	2516	60730											
TMPRSS6	164656	broad.mit.edu	37	chr22	37499343	37499343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccaggcggaggtagccccGggcttttctcttggagtcct	5	10	13	13	2	1	0	0	0	1	0	3	2	2	2	4	5	1	2	4	5	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:37499343G>A	ENST00000381792.2	-	2	255	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R39W|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R39W|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.R48W|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R48W			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	48					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGGTAGCCCCGGGCTTTTCTC	0.662													46	60					0	0	0	0	A	37499343	G	A	37499343	3	1	328	1	0	0	0	0	1	0	0	0	16345	1115	39	1	2361	1	TMPRSS6	22	37499343	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	173847	37499343	13805223	2517	60731											
GCAT	23464	broad.mit.edu	37	chr22	38212608	38212608	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggttcagctaccccgtggtCcccaagggcaaggcccggat	7	6	14	14	2	1	0	1	0	0	0	2	1	2	1	5	5	2	3	5	5	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:38212608C>T	ENST00000323205.6	+	9	1284	c.1221C>T	c.(1219-1221)gtC>gtT	p.V407V	GCAT_ENST00000248924.6_Silent_p.V381V	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	381					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACCCCGTGGTCCCCAAGGGCA	0.612													27	54					0	0	0	0	T	38212608	C	T	38212608	2	4	328	1	0	0	0	0	0	0	0	1	6333	842	30	2		2	GCAT	22	38212608	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	713265	38212608	13091958	2518	60732											
GALR3	8484	broad.mit.edu	37	chr22	38219451	38219451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catttcactggacagcccagGgagtgtgggggccgtggcag	7	7	17	10	1	1	0	1	0	0	0	1	2	1	2	2	5	1	1	2	5	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:38219451G>A	ENST00000249041.2	+	1	63	c.38G>A	c.(37-39)gGg>gAg	p.G13E		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	13					feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					GACAGCCCAGGGAGTGTGGGG	0.617													33	51					0	0	0	0	A	38219451	G	A	38219451	3	1	328	1	0	0	0	0	1	0	0	0	6278	1232	43	4	40	4	GALR3	22	38219451	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6843	38219451	13085115	2519	60733											
EIF3L	51386	broad.mit.edu	37	chr22	38251636	38251636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgaggctgaagccattgctCcacaggttggcaatggtagg	9	8	14	10	1	0	1	0	1	0	0	1	2	1	1	3	5	2	5	3	5	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:38251636C>T	ENST00000412331.2	+	4	940	c.358C>T	c.(358-360)Cca>Tca	p.P120S	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Intron|EIF3L_ENST00000381683.6_Missense_Mutation_p.P120S	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	120						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCCATTGCTCCACAGGTTGG	0.443													13	19					0	0	0	0	T	38251636	C	T	38251636	3	4	328	1	0	0	0	0	1	0	0	0	5060	855	30	2	372	2	EIF3L	22	38251636	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	32185	38251636	13052930	2520	60734											
CBX6	23466	broad.mit.edu	37	chr22	39263055	39263055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgggtccgggcggggcaggGgacggcgggacatacggtgg	5	3	24	9	6	0	0	0	0	0	0	1	2	1	2	1	10	1	1	1	10	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:39263055G>A	ENST00000407418.3	-	5	521	c.398C>T	c.(397-399)cCc>cTc	p.P133L	CBX6_ENST00000216083.6_Missense_Mutation_p.P115L			O95503	CBX6_HUMAN	chromobox homolog 6	133					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GCGGGGCAGGGGACGGCGGGA	0.711													9	10					0	0	0	0	A	39263055	G	A	39263055	3	1	328	1	0	0	0	0	1	0	0	0	2747	1232	43	4	844	4	CBX6	22	39263055	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1011419	39263055	12041511	2521	60735											
RPL3	6122	broad.mit.edu	37	chr22	39711393	39711393	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttgtagcctttgcccttGgtcaccccgatgacgtcgat	5	13	9	14	3	1	1	1	1	0	0	2	3	1	1	5	1	2	1	5	1	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:39711393G>A	ENST00000216146.4	-	5	842	c.669C>T	c.(667-669)acC>acT	p.T223T	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Silent_p.T171T	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	223					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					CTTTGCCCTTGGTCACCCCGA	0.577													71	77					0	0	0	0	A	39711393	G	A	39711393	2	1	328	1	0	0	0	0	0	0	0	1	13664	1335	47	4		4	RPL3	22	39711393	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	448338	39711393	11593173	2522	60736											
TNRC6B	23112	broad.mit.edu	37	chr22	40662488	40662488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaagaatggttggggggagGaagtcgatcagacaaaaaac	17	5	15	4	1	1	2	1	0	0	2	2	6	1	4	0	5	1	1	0	5	6	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:40662488G>A	ENST00000454349.2	+	5	2465	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.E752K	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	752					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						TTGGGGGGAGGAAGTCGATCA	0.517													9	24					0	0	0	0	A	40662488	G	A	40662488	3	1	328	1	0	0	0	0	1	0	0	0	16435	1175	41	2	2393	2	TNRC6B	22	40662488	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	951095	40662488	10642078	2523	60737											
MKL1	57591	broad.mit.edu	37	chr22	40827457	40827457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgatctctccggccgggaacGaatcttccgtttgagatagt	8	11	11	11	5	2	1	0	1	2	1	5	5	4	2	3	2	1	1	3	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:40827457G>A	ENST00000396617.3	-	6	681	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	MKL1_ENST00000407029.1_Missense_Mutation_p.R31C|MKL1_ENST00000402630.1_Missense_Mutation_p.R31C|MKL1_ENST00000402042.1_Missense_Mutation_p.R31C|MKL1_ENST00000355630.3_Missense_Mutation_p.R31C			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	31	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						GGCCGGGAACGAATCTTCCGT	0.473			T	RBM15	acute megakaryocytic leukemia								67	123					0	0	0	0	A	40827457	G	A	40827457	3	1	328	1	0	0	0	0	1	0	0	0	9670	1058	37	1	2744	1	MKL1	22	40827457	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	164969	40827457	10477109	2524	60738											
L3MBTL2	83746	broad.mit.edu	37	chr22	41625593	41625593	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctcagacaggggtccaaGaagcccctgctggaggacga	10	4	13	14	1	1	2	1	0	0	2	2	5	2	4	5	4	2	1	5	4	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:41625593G>A	ENST00000216237.5	+	16	2096	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	CHADL_ENST00000216241.9_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	646					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGGGTCCAAGAAGCCCCTGC	0.557													17	27					0	0	0	0	A	41625593	G	A	41625593	2	1	328	1	0	0	0	0	0	0	0	1	8645	933	33	2		2	L3MBTL2	22	41625593	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	798136	41625593	9678973	2525	60739											
RANGAP1	5905	broad.mit.edu	37	chr22	41652030	41652030	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccgagttccctacctgagGgacgccagcaccttggccat	7	7	10	17	2	0	1	0	1	0	0	1	3	1	2	7	2	2	2	7	2	1	3	rs150178245	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:41652030G>A	ENST00000455915.2	-	9	2537	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	RANGAP1_ENST00000407260.4_Silent_p.S301S|RANGAP1_ENST00000405486.1_Silent_p.S356S|RANGAP1_ENST00000356244.3_Silent_p.S356S			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	356					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTACCTGAGGGACGCCAGCA	0.577													23	28					0	0	0	0	A	41652030	G	A	41652030	2	1	328	1	0	0	0	0	0	0	0	1	13115	1219	43	4		4	RANGAP1	22	41652030	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	26437	41652030	9652536	2526	60740											
TTLL12	23170	broad.mit.edu	37	chr22	43576771	43576771	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggccagctggtaggtctGgttgaacttccacatctcct	7	12	11	11	0	2	1	0	1	2	0	4	1	3	1	3	4	2	3	3	4	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:43576771G>A	ENST00000216129.6	-	3	586	c.523C>T	c.(523-525)Cag>Tag	p.Q175*		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	175					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TGGTAGGTCTGGTTGAACTTC	0.652													58	93					0	0	0	0	A	43576771	G	A	43576771	4	1	328	1	0	0	0	0	0	1	0	0	16821	1357	47	4	1459	4	TTLL12	22	43576771	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1924741	43576771	7727795	2527	60741											
MPPED1	758	broad.mit.edu	37	chr22	43831035	43831035	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgatacccactcgaggacGgaccccatccagatgccgta	10	7	9	15	3	1	2	0	1	1	1	3	5	2	4	5	2	2	1	5	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:43831035G>A	ENST00000417669.1	+	3	750	c.306G>A	c.(304-306)acG>acA	p.T102T	MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000443721.1_Silent_p.T102T|MPPED1_ENST00000538182.1_Silent_p.T135T|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000542779.1_Silent_p.T102T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	102							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				ACTCGAGGACGGACCCCATCC	0.632													35	83					0	0	0	0	A	43831035	G	A	43831035	2	1	328	1	0	0	0	0	0	0	0	1	9811	1103	39	1		1	MPPED1	22	43831035	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	254264	43831035	7473531	2528	60742											
EFCAB6	64800	broad.mit.edu	37	chr22	44022347	44022347	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaatgagtctttgaggcgcTtcatctgttctccatggtct	6	16	9	10	1	5	2	1	2	4	0	6	2	5	2	1	2	0	2	1	2	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:44022347T>C	ENST00000262726.7	-	20	2698	c.2445A>G	c.(2443-2445)gaA>gaG	p.E815E	EFCAB6_ENST00000396231.2_Silent_p.E663E	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTTGAGGCGCTTCATCTGTTC	0.478													10	32					0	0	0	0	C	44022347	T	C	44022347	2	2	328	1	0	0	0	0	0	0	0	1	4975	1606	56	5		5	EFCAB6	22	44022347	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	191312	44022347	7282219	2529	60743											
EFCAB6	64800	broad.mit.edu	37	chr22	44028010	44028010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgactccttcagcctcctaGggaaaagcttcaggcattct	10	11	8	12	0	3	1	2	1	1	0	5	2	5	2	3	2	2	2	3	2	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:44028010G>A	ENST00000262726.7	-	19	2460	c.2207C>T	c.(2206-2208)cCt>cTt	p.P736L	EFCAB6_ENST00000396231.2_Missense_Mutation_p.P584L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAGCCTCCTAGGGAAAAGCTT	0.567													49	82					0	0	0	0	A	44028010	G	A	44028010	3	1	328	1	0	0	0	0	1	0	0	0	4975	1000	35	4	2354	4	EFCAB6	22	44028010	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5663	44028010	7276556	2530	60744											
PNPLA5	150379	broad.mit.edu	37	chr22	44286942	44286942	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccccccgccccacacCtggatgagctcatcgcaggt	7	5	11	18	2	1	1	1	1	0	0	2	2	1	2	6	3	1	3	6	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:44286942C>T	ENST00000216177.4	-	2	558	c.426_splice	c.e2+1	p.Q142_splice	PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000597664.1_Splice_Site_p.Q142_splice|PNPLA5_ENST00000381198.2_Intron	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	142	Patatin.				lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CGCCCCACACCTGGATGAGCT	0.652													8	13					0	0	0	0	T	44286942	C	T	44286942	5	4	328	1	0	0	0	0	0	0	1	0	12240	695	24	4	895	4	PNPLA5	22	44286942	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	258932	44286942	7017624	2531	60745											
SAMM50	25813	broad.mit.edu	37	chr22	44385100	44385100	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacttttccgaacacacttCtttctcaacgcaggaaacct	12	11	5	13	2	2	0	1	0	2	0	4	3	3	1	2	1	4	1	2	1	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:44385100C>T	ENST00000350028.4	+	13	1342	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	SAMM50_ENST00000396202.3_Silent_p.F185F	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	395					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GAACACACTTCTTTCTCAACG	0.488													45	60					0	0	0	0	T	44385100	C	T	44385100	2	4	328	1	0	0	0	0	0	0	0	1	13914	912	32	2		2	SAMM50	22	44385100	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	98158	44385100	6919466	2532	60746											
PRR5	55615	broad.mit.edu	37	chr22	45132948	45132948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accccacgacccagccccctGagcagggcttggatcccacc	8	4	9	20	1	0	1	0	1	0	0	1	3	1	2	7	2	2	2	7	2	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:45132948G>A	ENST00000403581.1	+	10	1666	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.E330K|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Intron	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CCAGCCCCCTGAGCAGGGCTT	0.711													16	28					0	0	0	0	A	45132948	G	A	45132948	3	1	328	1	0	0	0	0	1	0	0	0	12679	1291	45	2	1018	2	PRR5	22	45132948	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	747848	45132948	6171618	2533	60747											
TRMU	55687	broad.mit.edu	37	chr22	46742369	46742369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagaacttccctggaagatGaagaagtctttgagcagaag	15	8	11	7	0	1	6	0	2	1	4	2	7	2	7	1	1	2	1	1	1	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:46742369G>A	ENST00000290846.4	+	4	746	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	TRMU_ENST00000381019.3_Missense_Mutation_p.E136K|TRMU_ENST00000424260.2_Missense_Mutation_p.E101K	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	136						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CCTGGAAGATGAAGAAGTCTT	0.458													31	52					0	0	0	0	A	46742369	G	A	46742369	3	1	328	1	0	0	0	0	1	0	0	0	16666	1291	45	2	420	2	TRMU	22	46742369	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1609421	46742369	4562197	2534	60748											
TTLL8	164714	broad.mit.edu	37	chr22	50469179	50469179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagagctggtgatgggggtCcctgggcagggtctggcatg	5	8	21	7	0	1	2	0	1	1	1	2	3	2	2	1	7	1	3	1	7	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:50469179C>T	ENST00000266182.6	-	12	1882	c.1883G>A	c.(1882-1884)gGa>gAa	p.G628E	TTLL8_ENST00000440475.1_Missense_Mutation_p.G608E					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TGATGGGGGTCCCTGGGCAGG	0.692													3	8					0	0	0	0	T	50469179	C	T	50469179	3	4	328	1	0	0	0	0	1	0	0	0	16829	855	30	2	632	2	TTLL8	22	50469179	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3726810	50469179	835387	2535	60749											
SBF1	6305	broad.mit.edu	37	chr22	50885811	50885811	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtgggcgtgccaggtgcCacagcctccacctccgccaa	8	6	11	16	2	0	0	0	0	0	0	2	0	2	0	7	2	3	0	7	2	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:50885811C>T	ENST00000380817.2	-	40	5706	c.5523G>A	c.(5521-5523)gtG>gtA	p.V1841V	SBF1_ENST00000348911.6_Silent_p.V1816V|SBF1_ENST00000390679.3_Silent_p.V1815V	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1815	PH.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCAGGTGCCACAGCCTCCA	0.642													29	69					0	0	0	0	T	50885811	C	T	50885811	2	4	328	1	0	0	0	0	0	0	0	1	13944	581	21	4		4	SBF1	22	50885811	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	416632	50885811	418755	2536	60750											
SBF1	6305	broad.mit.edu	37	chr22	50899028	50899028	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgtgggcagagcccaaGgtgaacgcaaaggtggccct	9	6	17	9	1	0	2	0	1	0	1	0	2	0	2	2	5	2	2	2	5	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:50899028G>A	ENST00000380817.2	-	24	3264	c.3081C>T	c.(3079-3081)acC>acT	p.T1027T	SBF1_ENST00000348911.6_Silent_p.T1028T|SBF1_ENST00000390679.3_Silent_p.T1027T	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1027					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAGCCCAAGGTGAACGCAA	0.647													56	102					0	0	0	0	A	50899028	G	A	50899028	2	1	328	1	0	0	0	0	0	0	0	1	13944	987	35	4		4	SBF1	22	50899028	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	13217	50899028	405538	2537	60751											
MIOX	55586	broad.mit.edu	37	chr22	50926477	50926477	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaaggcccacccagacaagGgtgagccctggctgtgctgc	8	5	15	13	0	0	2	0	1	0	1	0	3	0	3	3	4	3	2	3	4	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:50926477G>A	ENST00000395732.3	+	4	362	c.340_splice	c.e4+1	p.D114_splice	MIOX_ENST00000395733.3_Splice_Site_p.V114_splice|MIOX_ENST00000216075.6_Splice_Site_p.D114_splice			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	114					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCAGACAAGGGTGAGCCCTG	0.657													19	24					0	0	0	0	A	50926477	G	A	50926477	5	1	328	1	0	0	0	0	0	0	1	0	9659	1246	43	4	354	4	MIOX	22	50926477	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	27449	50926477	378089	2538	60752											
ZBED1	9189	broad.mit.edu	37	chrX	2407922	2407922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcactgcgacgtccagcaggGagcacgccttcacgatgtcc	8	6	12	15	4	1	0	1	0	0	0	3	3	3	1	3	1	3	3	3	1	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:2407922G>A	ENST00000381223.4	-	2	1042	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ZBED1_ENST00000381218.3_Missense_Mutation_p.S280F|ZBED1_ENST00000381222.2_Missense_Mutation_p.S280F|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	280						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCCAGCAGGGAGCACGCCTT	0.632													68	124					0	0	0	0	A	2407922	G	A	2407922	3	1	328	1	0	0	0	0	1	0	0	0	17613	1174	41	2	1249	2	ZBED1	23	2407922	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08		2407922	152862638	2539	60753											
ARSD	414	broad.mit.edu	37	chrX	2827949	2827949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaatcactcggccggccgGgagcacccccggccagtgga	7	4	13	17	4	1	0	1	0	0	0	3	2	2	2	6	5	1	1	6	5	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:2827949G>A	ENST00000381154.1	-	8	1282	c.1207C>T	c.(1207-1209)Ccg>Tcg	p.P403S		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	403						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCCGGCCGGGAGCACCCCC	0.627													23	41					0	0	0	0	A	2827949	G	A	2827949	3	1	328	1	0	0	0	0	1	0	0	0	993	1232	43	4	586	4	ARSD	23	2827949	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	420027	2827949	152442611	2540	60754											
ARSH	347527	broad.mit.edu	37	chrX	2951409	2951409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaaggaagatgacatcCttcccatggctccctgagac	11	8	10	12	0	0	4	0	3	0	2	3	6	3	5	3	2	0	1	3	2	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:2951409C>T	ENST00000381130.2	+	9	1672	c.1672C>T	c.(1672-1674)Ctt>Ttt	p.L558F		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	558						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGATGACATCCTTCCCATGGC	0.517													9	20					0	0	0	0	T	2951409	C	T	2951409	3	4	328	1	0	0	0	0	1	0	0	0	997	681	24	4	1706	4	ARSH	23	2951409	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	123460	2951409	152319151	2541	60755											
NLGN4X	57502	broad.mit.edu	37	chrX	5811026	5811026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgaccggcgcagcgtgagGgtgtagtctggcgggcaggt	5	6	21	9	5	1	1	0	1	1	0	1	2	1	1	1	6	1	3	1	6	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:5811026G>A	ENST00000381095.3	-	6	2910	c.2283C>T	c.(2281-2283)acC>acT	p.T761T	NLGN4X_ENST00000275857.6_Silent_p.T761T|NLGN4X_ENST00000381093.2_Silent_p.T781T|NLGN4X_ENST00000381092.1_Silent_p.T761T|NLGN4X_ENST00000538097.1_Silent_p.T761T	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	761					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCAGCGTGAGGGTGTAGTCTG	0.562													56	72					0	0	0	0	A	5811026	G	A	5811026	2	1	328	1	0	0	0	0	0	0	0	1	10534	1219	43	4		4	NLGN4X	23	5811026	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2859617	5811026	149459534	2542	60756											
VCX3B	425054	broad.mit.edu	37	chrX	8434164	8434164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgagtcaggagagcgaggtgGaggaaccactgagtcaggag	12	5	18	6	1	2	3	2	2	0	1	2	8	2	6	1	5	2	0	1	5	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:8434164G>A	ENST00000381032.1	+	3	788	c.481G>A	c.(481-483)Gag>Aag	p.E161K	VCX3B_ENST00000453306.1_Missense_Mutation_p.E161K|VCX3B_ENST00000444481.1_Missense_Mutation_p.E131K|VCX3B_ENST00000381029.4_Intron|VCX3B_ENST00000440654.2_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	161	11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GAGCGAGGTGGAGGAACCACT	0.587													45	346					0	0	0	0	A	8434164	G	A	8434164	3	1	328	1	0	0	0	0	1	0	0	0	17241	1175	41	2	401	2	VCX3B	23	8434164	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2623138	8434164	146836396	2543	60757											
VCX3B	425054	broad.mit.edu	37	chrX	8434194	8434194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgagtcaggagagcgaggtgGaagaaccactgagtcaggag	13	5	17	6	1	2	4	2	2	0	2	2	8	2	6	1	4	2	0	1	4	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:8434194G>A	ENST00000381032.1	+	3	818	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	VCX3B_ENST00000453306.1_Missense_Mutation_p.E171K|VCX3B_ENST00000444481.1_Missense_Mutation_p.E141K|VCX3B_ENST00000381029.4_Missense_Mutation_p.E139K|VCX3B_ENST00000440654.2_Missense_Mutation_p.E121K	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	171	11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GAGCGAGGTGGAAGAACCACT	0.587													36	315					0	0	0	0	A	8434194	G	A	8434194	3	1	328	1	0	0	0	0	1	0	0	0	17241	1175	41	2	431	2	VCX3B	23	8434194	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	30	8434194	146836366	2544	60758											
KAL1	3730	broad.mit.edu	37	chrX	8503691	8503691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taggctgttctgtctgctttCcgtagtgacctcagcccaag	6	13	10	12	1	3	1	1	1	2	0	4	1	4	1	3	1	2	4	3	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:8503691C>T	ENST00000262648.3	-	12	1932	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	595	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TGTCTGCTTTCCGTAGTGACC	0.498													29	22					0	0	0	0	T	8503691	C	T	8503691	3	4	328	1	0	0	0	0	1	0	0	0	8027	864	30	2	271	2	KAL1	23	8503691	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	69497	8503691	146766869	2545	60759											
TBL1X	6907	broad.mit.edu	37	chrX	9665463	9665463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaacagcagtttccttttCattcaggtgagttttttgtt	8	18	7	8	0	2	1	2	1	0	0	3	1	3	1	2	1	2	4	2	1	1	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:9665463C>T	ENST00000217964.7	+	12	1748	c.1108C>T	c.(1108-1110)Cat>Tat	p.H370Y	TBL1X_ENST00000536365.1_Missense_Mutation_p.H319Y|TBL1X_ENST00000380961.1_Missense_Mutation_p.H319Y|TBL1X_ENST00000407597.2_Missense_Mutation_p.H370Y|TBL1X_ENST00000424279.1_Missense_Mutation_p.H319Y	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	370					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GTTTCCTTTTCATTCAGGTGA	0.383													63	70					0	0	0	0	T	9665463	C	T	9665463	3	4	328	1	0	0	0	0	1	0	0	0	15733	826	29	2	1142	2	TBL1X	23	9665463	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1161772	9665463	145605097	2546	60760											
SHROOM2	357	broad.mit.edu	37	chrX	9900522	9900522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccccacagaggccaccgCcacccaagcgcgagcccagg	10	0	11	20	3	0	1	0	0	0	1	0	2	0	1	7	2	3	0	7	2	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:9900522C>T	ENST00000380913.3	+	6	3289	c.3199C>T	c.(3199-3201)Cca>Tca	p.P1067S	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1067	Poly-Pro.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GAGGCCACCGCCACCCAAGCG	0.697													14	16					0	0	0	0	T	9900522	C	T	9900522	3	4	328	1	0	0	0	0	1	0	0	0	14382	739	26	4	3221	4	SHROOM2	23	9900522	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	235059	9900522	145370038	2547	60761											
WWC3	55841	broad.mit.edu	37	chrX	10085585	10085585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggccaggcctgggcgccCtagacagactgcgggcacac	8	3	16	14	2	0	2	0	0	0	2	0	2	0	2	3	5	1	1	3	5	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:10085585C>T	ENST00000380861.4	+	11	1877	c.1486C>T	c.(1486-1488)Cta>Tta	p.L496L	WWC3_ENST00000454666.1_Silent_p.L496L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	496										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTGGGCGCCCTAGACAGACT	0.721													7	6					0	0	0	0	T	10085585	C	T	10085585	2	4	328	1	0	0	0	0	0	0	0	1	17509	680	24	4		4	WWC3	23	10085585	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	185063	10085585	145184975	2548	60762											
PRPS2	5634	broad.mit.edu	37	chrX	12809655	12809655	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcggcagctcgcatcaGgacctgtcccagcgcgtggc	6	7	13	15	4	2	0	2	0	0	0	4	1	3	1	2	3	3	3	2	3	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:12809655G>A	ENST00000380668.5	+	1	167	c.39G>A	c.(37-39)caG>caA	p.Q13Q	PRPS2_ENST00000489404.1_Silent_p.Q13Q|PRPS2_ENST00000398491.2_Silent_p.Q13Q	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	13					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GCTCGCATCAGGACCTGTCCC	0.711													18	26					0	0	0	0	A	12809655	G	A	12809655	2	1	328	1	0	0	0	0	0	0	0	1	12660	991	35	4		4	PRPS2	23	12809655	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2724070	12809655	142460905	2549	60763											
TLR7	51284	broad.mit.edu	37	chrX	12906090	12906090	+	Silent	SNP	G	G	A																															gtggggccaggagcacacaaGggccaaagtgtgatctccct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:12906090G>A	ENST00000380659.3	+	3	2602	c.2463G>A	c.(2461-2463)aaG>aaA	p.K821K		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	821					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GAGCACACAAGGGCCAAAGTG	0.488													58	107					0	0	0	0	A	12906090	G	A	12906090	2	1	328	1	0	0	0	0	0	0	0	1	16050	991	35	4		4	TLR7	23	12906090	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	96435	12906090	142364470	2550	60764	720	2									
TLR7	51284	broad.mit.edu	37	chrX	12906091	12906091	+	Missense_Mutation	SNP	G	G	A																															tggggccaggagcacacaagGgccaaagtgtgatctccctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:12906091G>A	ENST00000380659.3	+	3	2603	c.2464G>A	c.(2464-2466)Ggc>Agc	p.G822S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	822					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AGCACACAAGGGCCAAAGTGT	0.483													60	107					0	0	0	0	A	12906091	G	A	12906091	3	1	328	1	0	0	0	0	1	0	0	0	16050	1232	43	4	2470	4	TLR7	23	12906091	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	12906091	142364469	2551	60765	720	2									
PIGA	5277	broad.mit.edu	37	chrX	15342945	15342945	+	Missense_Mutation	SNP	G	G	A																															aggctcacataaaataataaGgttttctggaagcacctcag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:15342945G>A	ENST00000333590.4	-	5	1114	c.1030C>T	c.(1030-1032)Ctt>Ttt	p.L344F	PIGA_ENST00000542278.1_Missense_Mutation_p.L110F|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Missense_Mutation_p.L29F	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	344					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AAAATAATAAGGTTTTCTGGA	0.388													43	56					0	0	0	0	A	15342945	G	A	15342945	3	1	328	1	0	0	0	0	1	0	0	0	11956	1000	35	4	432	4	PIGA	23	15342945	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2436854	15342945	139927615	2552	60766	721	2									
PIGA	5277	broad.mit.edu	37	chrX	15342946	15342946	+	Silent	SNP	G	G	A																															ggctcacataaaataataagGttttctggaagcacctcagg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:15342946G>A	ENST00000333590.4	-	5	1113	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	PIGA_ENST00000542278.1_Silent_p.N109N|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Silent_p.N28N	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	343					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AAATAATAAGGTTTTCTGGAA	0.388													42	56					0	0	0	0	A	15342946	G	A	15342946	2	1	328	1	0	0	0	0	0	0	0	1	11956	1252	44	4		4	PIGA	23	15342946	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	15342946	139927614	2553	60767	721	2									
REPS2	9185	broad.mit.edu	37	chrX	17040363	17040363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttaactacagaaaaaaattCcttcaaaagaatggacgatg	19	10	6	6	1	1	2	1	0	0	2	2	4	2	3	1	1	2	0	1	1	8	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:17040363C>T	ENST00000357277.3	+	3	686	c.515C>T	c.(514-516)tCc>tTc	p.S172F	REPS2_ENST00000303843.7_Missense_Mutation_p.S172F|REPS2_ENST00000380064.4_Missense_Mutation_p.S33F	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	172					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GAAAAAAATTCCTTCAAAAGA	0.393													27	56					0	0	0	0	T	17040363	C	T	17040363	3	4	328	1	0	0	0	0	1	0	0	0	13311	855	30	2	525	2	REPS2	23	17040363	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1697417	17040363	138230197	2554	60768											
SCML1	6322	broad.mit.edu	37	chrX	17771378	17771378	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taagtttcttctctccatagGaaattgacgggaaggctctg	10	13	10	8	1	3	1	0	1	3	0	5	3	4	3	1	3	0	2	1	3	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:17771378G>A	ENST00000380043.3	+	7	1103	c.774_splice	c.e7-1	p.E259_splice	SCML1_ENST00000380041.3_Splice_Site_p.E286_splice|SCML1_ENST00000398080.1_Splice_Site_p.E165_splice|SCML1_ENST00000380045.3_Splice_Site_p.E165_splice	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	286	SAM.				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CTCTCCATAGGAAATTGACGG	0.423													45	56					0	0	0	0	A	17771378	G	A	17771378	5	1	328	1	0	0	0	0	0	0	1	0	13996	1188	41	2	885	2	SCML1	23	17771378	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	731015	17771378	137499182	2555	60769											
BEND2	139105	broad.mit.edu	37	chrX	18183239	18183239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttcagcccttctgacgtCatgtctaaggctacggatac	8	11	10	12	2	4	1	2	1	2	0	4	2	4	2	1	3	3	2	1	3	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:18183239C>T	ENST00000380033.4	-	14	2422	c.2290G>A	c.(2290-2292)Gac>Aac	p.D764N		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	764	BEN 2.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTTCTGACGTCATGTCTAAGG	0.547													104	140					0	0	0	0	T	18183239	C	T	18183239	3	4	328	1	0	0	0	0	1	0	0	0	1402	826	29	2	113	2	BEND2	23	18183239	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	411861	18183239	137087321	2556	60770											
PHKA2	5256	broad.mit.edu	37	chrX	18972465	18972465	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacggccaggatactgtaGatgttatcccgcacccaggc	10	7	10	14	2	0	1	0	0	0	1	1	2	1	2	3	3	1	3	3	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:18972465G>A	ENST00000379942.4	-	2	809	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	48					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGATACTGTAGATGTTATCCC	0.567													55	53					0	0	0	0	A	18972465	G	A	18972465	2	1	328	1	0	0	0	0	0	0	0	1	11916	932	33	2		2	PHKA2	23	18972465	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	789226	18972465	136298095	2557	60771											
GPR64	10149	broad.mit.edu	37	chrX	19032136	19032136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggatggattggctggaaGaaaatggtgggccacgtgga	10	8	18	5	1	0	1	0	0	0	1	0	5	0	5	1	7	0	1	1	7	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:19032136G>A	ENST00000354791.3	-	15	960	c.719C>T	c.(718-720)tCt>tTt	p.S240F	GPR64_ENST00000340581.3_Missense_Mutation_p.S226F|GPR64_ENST00000357544.3_Missense_Mutation_p.S226F|GPR64_ENST00000357991.3_Missense_Mutation_p.S253F|GPR64_ENST00000379876.1_Missense_Mutation_p.S232F|GPR64_ENST00000379878.3_Missense_Mutation_p.S240F|GPR64_ENST00000360279.4_Missense_Mutation_p.S234F|GPR64_ENST00000356606.4_Missense_Mutation_p.S242F|GPR64_ENST00000379869.3_Missense_Mutation_p.S256F|GPR64_ENST00000379873.2_Missense_Mutation_p.S256F			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	256					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTGGCTGGAAGAAAATGGTGG	0.522													25	36					0	0	0	0	A	19032136	G	A	19032136	3	1	328	1	0	0	0	0	1	0	0	0	6754	942	33	2	2342	2	GPR64	23	19032136	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	59671	19032136	136238424	2558	60772											
MAP3K15	389840	broad.mit.edu	37	chrX	19443774	19443774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgttcattttctccaagctCccttttcttcccaacaaact	8	17	2	14	0	3	0	1	0	2	0	6	0	5	0	3	0	3	2	3	0	3	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:19443774C>T	ENST00000338883.4	-	9	1313	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.G270G	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	438							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCTCCAAGCTCCCTTTTCTTC	0.443													14	9					0	0	0	0	T	19443774	C	T	19443774	2	4	328	1	0	0	0	0	0	0	0	1	9318	842	30	2		2	MAP3K15	23	19443774	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	411638	19443774	135826786	2559	60773											
CNKSR2	22866	broad.mit.edu	37	chrX	21581440	21581440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaacagcaaaaaggacacagGgaagaagtcaaaaaagaagg	24	1	11	5	0	1	2	1	0	0	2	1	4	1	4	0	3	2	1	0	3	9	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:21581440G>A	ENST00000425654.2	+	12	1868	c.1388G>A	c.(1387-1389)gGg>gAg	p.G463E	CNKSR2_ENST00000543067.1_Missense_Mutation_p.G444E|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000279451.4_Missense_Mutation_p.G493E|CNKSR2_ENST00000379510.3_Missense_Mutation_p.G493E	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	493	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAGGACACAGGGAAGAAGTCA	0.368													34	47					0	0	0	0	A	21581440	G	A	21581440	3	1	328	1	0	0	0	0	1	0	0	0	3637	1232	43	4	1528	4	CNKSR2	23	21581440	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2137666	21581440	133689120	2560	60774											
CNKSR2	22866	broad.mit.edu	37	chrX	21609287	21609287	+	Missense_Mutation	SNP	C	C	T																															gtttgtcctaaaggatgcatCcctttattggtatattaatg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:21609287C>T	ENST00000425654.2	+	14	2195	c.1715C>T	c.(1714-1716)tCc>tTc	p.S572F	CNKSR2_ENST00000543067.1_Missense_Mutation_p.S553F|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S602F|CNKSR2_ENST00000379510.3_Missense_Mutation_p.S602F	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	602	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAGGATGCATCCCTTTATTGG	0.353													50	68					0	0	0	0	T	21609287	C	T	21609287	3	4	328	1	0	0	0	0	1	0	0	0	3637	855	30	2	1863	2	CNKSR2	23	21609287	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	27847	21609287	133661273	2561	60775	722	2									
CNKSR2	22866	broad.mit.edu	37	chrX	21609288	21609288	+	Silent	SNP	C	C	T																															tttgtcctaaaggatgcatcCctttattggtatattaatga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:21609288C>T	ENST00000425654.2	+	14	2196	c.1716C>T	c.(1714-1716)tcC>tcT	p.S572S	CNKSR2_ENST00000543067.1_Silent_p.S553S|CNKSR2_ENST00000279451.4_Silent_p.S602S|CNKSR2_ENST00000379510.3_Silent_p.S602S	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	602	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGGATGCATCCCTTTATTGGT	0.348													50	69					0	0	0	0	T	21609288	C	T	21609288	2	4	328	1	0	0	0	0	0	0	0	1	3637	610	22	4		4	CNKSR2	23	21609288	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	21609288	133661272	2562	60776	722	2									
CNKSR2	22866	broad.mit.edu	37	chrX	21627285	21627285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcatgaggagtttcgccagGaagtaactgggagcagtgca	11	8	14	8	1	1	1	1	1	0	0	2	4	1	4	1	3	3	4	1	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:21627285G>A	ENST00000425654.2	+	19	2632	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	CNKSR2_ENST00000543067.1_Missense_Mutation_p.E699K|CNKSR2_ENST00000279451.4_Missense_Mutation_p.E748K|CNKSR2_ENST00000379510.3_Missense_Mutation_p.E748K	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	748					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTTTCGCCAGGAAGTAACTGG	0.522													63	71					0	0	0	0	A	21627285	G	A	21627285	3	1	328	1	0	0	0	0	1	0	0	0	3637	1175	41	2	2320	2	CNKSR2	23	21627285	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	17997	21627285	133643275	2563	60777											
KLHL34	257240	broad.mit.edu	37	chrX	21675713	21675713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtggatcacgcgcgcccggGattcctgggtgtggctcttg	3	10	17	11	4	2	0	1	0	1	0	3	2	3	2	2	5	0	1	2	5	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:21675713G>A	ENST00000379499.2	-	1	735	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	65	BTB.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GCGCGCCCGGGATTCCTGGGT	0.642													12	14					0	0	0	0	A	21675713	G	A	21675713	3	1	328	1	0	0	0	0	1	0	0	0	8439	1174	41	2	1744	2	KLHL34	23	21675713	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	48428	21675713	133594847	2564	60778											
DDX53	168400	broad.mit.edu	37	chrX	23019811	23019811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atataattatgatttcccaaGgaatattgacgtatatgtac	15	15	6	5	1	0	2	0	2	0	0	1	3	1	3	1	1	1	2	1	1	9	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:23019811G>A	ENST00000327968.5	+	1	1725	c.1637G>A	c.(1636-1638)aGg>aAg	p.R546K	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	546	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GATTTCCCAAGGAATATTGAC	0.383													61	81					0	0	0	0	A	23019811	G	A	23019811	3	1	328	1	0	0	0	0	1	0	0	0	4403	1000	35	4	1639	4	DDX53	23	23019811	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1344098	23019811	132250749	2565	60779											
PTCHD1	139411	broad.mit.edu	37	chrX	23353008	23353008	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaggatgctgcggcaggttCtgcacaggggcttgaggacg	7	8	17	9	2	1	1	0	1	1	0	1	3	1	3	0	6	3	5	0	6	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:23353008C>T	ENST00000379361.4	+	1	876	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	6					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GCGGCAGGTTCTGCACAGGGG	0.721													4	7					0	0	0	0	T	23353008	C	T	23353008	2	4	328	1	0	0	0	0	0	0	0	1	12811	912	32	2		2	PTCHD1	23	23353008	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	333197	23353008	131917552	2566	60780											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29417302	29417302	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaaacatggaggccaagtAttgtattcaaaagagatact	18	9	8	6	0	1	1	1	0	0	1	1	3	1	2	1	2	2	2	1	2	8	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:29417302A>T	ENST00000378993.1	+	5	1253	c.580A>T	c.(580-582)Att>Ttt	p.I194F	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.I194F	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	194	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GAGGCCAAGTATTGTATTCAA	0.313													31	22					0	0	0	0	T	29417302	A	T	29417302	3	4	328	1	0	0	0	0	1	0	0	0	7714	449	16	5	594	5	IL1RAPL1	23	29417302	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	6064294	29417302	125853258	2567	60781											
MAGEB1	4112	broad.mit.edu	37	chrX	30269432	30269432	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcaattcctatggggtccGagagcctatgctgaaaccac	11	10	9	11	1	1	2	1	1	0	1	3	3	3	2	4	2	3	1	4	2	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:30269432G>A	ENST00000378981.3	+	4	1143	c.822G>A	c.(820-822)ccG>ccA	p.P274P	MAGEB1_ENST00000397548.2_Silent_p.P274P|MAGEB1_ENST00000397550.1_Silent_p.P274P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	274	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TATGGGGTCCGAGAGCCTATG	0.502													59	58					0	0	0	0	A	30269432	G	A	30269432	2	1	328	1	0	0	0	0	0	0	0	1	9241	1045	37	1		1	MAGEB1	23	30269432	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	852130	30269432	125001128	2568	60782											
FAM47A	158724	broad.mit.edu	37	chrX	34148303	34148303	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacttaggcttgaggtacCatgctccatacttcatcttc	10	13	6	12	0	2	1	1	1	1	0	4	1	3	1	2	2	4	3	2	2	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34148303C>T	ENST00000346193.3	-	1	2144	c.2093G>A	c.(2092-2094)tGg>tAg	p.W698*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	698										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTTGAGGTACCATGCTCCATA	0.438													41	73					0	0	0	0	T	34148303	C	T	34148303	4	4	328	1	0	0	0	0	0	1	0	0	5616	595	21	4	286	4	FAM47A	23	34148303	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3878871	34148303	121122257	2569	60783			1	90		5	4	1044	N	T_G_C	9.348129e-05
FAM47A	158724	broad.mit.edu	37	chrX	34148928	34148928	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggctgcgagtggagacTggacctccgacgtgtcttgg	6	8	18	9	3	1	1	0	0	1	1	2	6	2	3	2	5	1	1	2	5	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34148928T>C	ENST00000346193.3	-	1	1519	c.1468A>G	c.(1468-1470)Agt>Ggt	p.S490G		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	490										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAGTGGAGACTGGACCTCCGA	0.642													34	87					0	0	0	0	C	34148928	T	C	34148928	3	2	328	1	0	0	0	0	1	0	0	0	5616	1580	55	5	911	5	FAM47A	23	34148928	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	625	34148928	121121632	2570	60784			1	90		5	4	1044	N	T_G_C	9.348129e-05
FAM47A	158724	broad.mit.edu	37	chrX	34149011	34149011	+	Missense_Mutation	SNP	G	G	A																															gcaggcagggttccccacaaGgggatttatgaggctcggtg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34149011G>A	ENST00000346193.3	-	1	1436	c.1385C>T	c.(1384-1386)cCt>cTt	p.P462L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	462										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTCCCCACAAGGGGATTTATG	0.592													23	55					0	0	0	0	A	34149011	G	A	34149011	3	1	328	1	0	0	0	0	1	0	0	0	5616	1000	35	4	994	4	FAM47A	23	34149011	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	83	34149011	121121549	2571	60785	723	2	1	90		5	4	1044	N	T_G_C	9.348129e-05
FAM47A	158724	broad.mit.edu	37	chrX	34149012	34149012	+	Missense_Mutation	SNP	G	G	A																															caggcagggttccccacaagGggatttatgaggctcggtgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34149012G>A	ENST00000346193.3	-	1	1435	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	462										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCCCCACAAGGGGATTTATGA	0.592													22	56					0	0	0	0	A	34149012	G	A	34149012	3	1	328	1	0	0	0	0	1	0	0	0	5616	1232	43	4	995	4	FAM47A	23	34149012	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	34149012	121121548	2572	60786	723	2	1	90		5	4	1044	N	T_G_C	9.348129e-05
FAM47A	158724	broad.mit.edu	37	chrX	34149346	34149346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtctcggaaggctccgagcgGagactggacccccgacgagt	8	5	15	13	5	1	1	0	0	1	1	3	7	2	3	3	4	1	1	3	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34149346G>A	ENST00000346193.3	-	1	1101	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	350										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCTCCGAGCGGAGACTGGACC	0.657													24	31					0	0	0	0	A	34149346	G	A	34149346	2	1	328	1	0	0	0	0	0	0	0	1	5616	1161	41	2		2	FAM47A	23	34149346	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	334	34149346	121121214	2573	60787			1	90		5	4	1044	N	T_G_C	9.348129e-05
FAM47B	170062	broad.mit.edu	37	chrX	34961393	34961393	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccagatctcctactacagGtgctgaaacagctggatccc	10	9	8	14	0	1	2	0	1	1	1	4	3	3	3	3	2	5	2	3	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34961393G>C	ENST00000329357.5	+	1	481	c.445G>C	c.(445-447)Gtg>Ctg	p.V149L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	149										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCTACTACAGGTGCTGAAACA	0.557													32	50					0	0	0	0	C	34961393	G	C	34961393	3	2	328	1	0	0	0	0	1	0	0	0	5617	1261	44	4	447	4	FAM47B	23	34961393	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	812047	34961393	120309167	2574	60788											
CXorf22	170063	broad.mit.edu	37	chrX	35994002	35994002	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccgtaaacacaggaagaggGatagcattttctatttgtcc	12	11	9	9	1	1	1	0	0	1	1	2	3	2	3	2	2	2	2	2	2	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:35994002G>A	ENST00000297866.5	+	15	2751	c.2685G>A	c.(2683-2685)ggG>ggA	p.G895G		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	895										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CAGGAAGAGGGATAGCATTTT	0.333													74	129					0	0	0	0	A	35994002	G	A	35994002	2	1	328	1	0	0	0	0	0	0	0	1	4134	1161	41	2		2	CXorf22	23	35994002	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1032609	35994002	119276558	2575	60789											
FAM47C	442444	broad.mit.edu	37	chrX	37028492	37028492	+	Missense_Mutation	SNP	C	C	T																															gtccagtctccccccggagcCccccgagactggagtgtccc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:37028492C>T	ENST00000358047.3	+	1	2061	c.2009C>T	c.(2008-2010)cCc>cTc	p.P670L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	670										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCCCGGAGCCCCCCGAGACT	0.642													46	37					0	0	0	0	T	37028492	C	T	37028492	3	4	328	1	0	0	0	0	1	0	0	0	5618	623	22	4	2011	4	FAM47C	23	37028492	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1034490	37028492	118242068	2576	60790	724	2									
FAM47C	442444	broad.mit.edu	37	chrX	37028493	37028493	+	Silent	SNP	C	C	T																															tccagtctccccccggagccCcccgagactggagtgtccca																								rs151036171		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:37028493C>T	ENST00000358047.3	+	1	2062	c.2010C>T	c.(2008-2010)ccC>ccT	p.P670P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	670										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCCGGAGCCCCCCGAGACTG	0.647													43	38					0	0	0	0	T	37028493	C	T	37028493	2	4	328	1	0	0	0	0	0	0	0	1	5618	610	22	4		4	FAM47C	23	37028493	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	37028493	118242067	2577	60791	724	2									
LANCL3	347404	broad.mit.edu	37	chrX	37431157	37431157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcttcgccaatcgcttcGatgactaccagggcagcctg	7	9	11	14	3	0	1	0	1	0	0	3	2	0	1	3	1	3	4	3	1	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:37431157G>A	ENST00000378621.3	+	1	336	c.34G>A	c.(34-36)Gat>Aat	p.D12N	LANCL3_ENST00000378619.3_Missense_Mutation_p.D12N|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	12							catalytic activity			lung(4)|pancreas(1)	5						CAATCGCTTCGATGACTACCA	0.667													9	24					0	0	0	0	A	37431157	G	A	37431157	3	1	328	1	0	0	0	0	1	0	0	0	8675	1058	37	1	36	1	LANCL3	23	37431157	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	402664	37431157	117839403	2578	60792											
SRPX	8406	broad.mit.edu	37	chrX	38033500	38033500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgtagcccttctggcagcGaatgtcgcacctggttccca	6	10	10	15	3	1	0	0	0	1	0	4	1	2	0	3	2	2	4	3	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:38033500G>A	ENST00000378533.3	-	3	368	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	SRPX_ENST00000432886.2_Missense_Mutation_p.R88C|SRPX_ENST00000544439.1_Missense_Mutation_p.R68C|SRPX_ENST00000538295.1_Missense_Mutation_p.R88C|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.R75C	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	88	Sushi 1.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TTCTGGCAGCGAATGTCGCAC	0.557													21	42					0	0	0	0	A	38033500	G	A	38033500	3	1	328	1	0	0	0	0	1	0	0	0	15254	1058	37	1	1164	1	SRPX	23	38033500	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	602343	38033500	117237060	2579	60793											
BCOR	54880	broad.mit.edu	37	chrX	39923689	39923689	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcacctgagactttgcgtttCctgtccacccggagggtggg	5	11	13	12	2	1	1	1	1	0	1	3	3	3	2	4	3	1	1	4	3	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:39923689C>G	ENST00000342274.4	-	7	3764	c.3402G>C	c.(3400-3402)agG>agC	p.R1134S	BCOR_ENST00000397354.3_Missense_Mutation_p.R1134S|BCOR_ENST00000378463.1_Missense_Mutation_p.R11S|BCOR_ENST00000378444.4_Missense_Mutation_p.R1134S|BCOR_ENST00000378455.4_Missense_Mutation_p.R1116S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1134					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTTGCGTTTCCTGTCCACCC	0.612			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						34	53					0	0	0	0	G	39923689	C	G	39923689	3	3	328	1	0	0	0	0	1	0	0	0	1390	854	30	2	1901	2	BCOR	23	39923689	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1890189	39923689	115346871	2580	60794											
BCOR	54880	broad.mit.edu	37	chrX	39933389	39933389	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgcccgggcactggctGggcaccttcgcccccttccg	3	7	13	18	3	0	0	0	0	0	0	2	0	1	0	5	4	1	4	5	4	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:39933389G>A	ENST00000342274.4	-	4	1572	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	BCOR_ENST00000397354.3_Nonsense_Mutation_p.Q404*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.Q404*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.Q404*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	404					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGCACTGGCTGGGCACCTTCG	0.592			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						21	24					0	0	0	0	A	39933389	G	A	39933389	4	1	328	1	0	0	0	0	0	1	0	0	1390	1357	47	4	4105	4	BCOR	23	39933389	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	9700	39933389	115337171	2581	60795											
UBA1	7317	broad.mit.edu	37	chrX	47060900	47060900	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaccccggtgtggttacctgCctggatgaggcccgacacgg	7	7	14	13	3	0	1	0	1	0	0	0	3	0	2	5	5	3	1	5	5	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:47060900C>T	ENST00000335972.6	+	8	885	c.702C>T	c.(700-702)tgC>tgT	p.C234C	UBA1_ENST00000377351.4_Silent_p.C234C	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	234	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGTTACCTGCCTGGATGAGG	0.547													12	43					0	0	0	0	T	47060900	C	T	47060900	2	4	328	1	0	0	0	0	0	0	0	1	16923	747	26	4		4	UBA1	23	47060900	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	7127511	47060900	108209660	2582	60796											
USP11	8237	broad.mit.edu	37	chrX	47092374	47092374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtttccgggaccagaatccgGaagtggctgttgaggggcgt	7	9	17	8	3	0	2	0	1	0	1	2	4	2	4	3	5	0	3	3	5	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:47092374G>A	ENST00000218348.3	+	1	61	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	USP11_ENST00000377107.2_5'UTR	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	21					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCAGAATCCGGAAGTGGCTGT	0.612													25	62					0	0	0	0	A	47092374	G	A	47092374	3	1	328	1	0	0	0	0	1	0	0	0	17138	1175	41	2	63	2	USP11	23	47092374	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	31474	47092374	108178186	2583	60797											
ARAF	369	broad.mit.edu	37	chrX	47429395	47429395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttatgactggctcactgcCttacagccacattggctgcc	7	11	9	14	0	1	1	1	1	0	0	1	1	1	1	3	2	4	3	3	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:47429395C>T	ENST00000377045.4	+	14	1717	c.1523C>T	c.(1522-1524)cCt>cTt	p.P508L	ARAF_ENST00000470206.1_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	508	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGCTCACTGCCTTACAGCCAC	0.592													8	15					0	0	0	0	T	47429395	C	T	47429395	3	4	328	1	0	0	0	0	1	0	0	0	839	681	24	4	1573	4	ARAF	23	47429395	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	337021	47429395	107841165	2584	60798											
SSX1	6756	broad.mit.edu	37	chrX	48116746	48116746	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcagagaagagaagcaagGtgacgtgacctggagggggc	13	4	17	7	1	1	4	1	2	0	2	1	7	1	5	1	4	1	1	1	4	3	0	rs139158089		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48116746G>A	ENST00000376919.3	+	2	205		c.e2+1			NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GAGAAGCAAGGTGACGTGACC	0.567			T	SS18	synovial sarcoma								14	22					0	0	0	0	A	48116746	G	A	48116746	5	1	328	1	0	0	0	0	0	0	1	0	15293	1275	44	4	72	4	SSX1	23	48116746	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	687351	48116746	107153814	2585	60799											
TBC1D25	4943	broad.mit.edu	37	chrX	48418193	48418193	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgcactgaccgggcccaCccctactatgcggggcctga	6	6	12	17	3	0	2	0	2	0	0	0	2	0	2	5	3	3	1	5	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48418193C>T	ENST00000376771.4	+	6	1238	c.897C>T	c.(895-897)caC>caT	p.H299H	TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000537536.1_Silent_p.H45H	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	299	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACCGGGCCCACCCCTACTATG	0.637													13	38					0	0	0	0	T	48418193	C	T	48418193	2	4	328	1	0	0	0	0	0	0	0	1	15706	506	18	4		4	TBC1D25	23	48418193	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	301447	48418193	106852367	2586	60800											
WAS	7454	broad.mit.edu	37	chrX	48549500	48549500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttctctttccctccagacGaaggggaggaccaggctggc	7	9	12	13	1	1	1	0	0	1	1	4	4	3	3	3	5	0	1	3	5	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48549500G>A	ENST00000376701.4	+	12	1531	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	486	Asp/Glu-rich (acidic).				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	p.E486K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCCTCCAGACGAAGGGGAGGA	0.582			"Mis, N, F, S"			lymphoma							20	39					0	0	0	0	A	48549500	G	A	48549500	3	1	328	1	0	0	0	0	1	0	0	0	17347	1059	37	1	1502	1	WAS	23	48549500	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	131307	48549500	106721060	2587	60801											
KCND1	3750	broad.mit.edu	37	chrX	48826201	48826201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgcctgctggcagggctgGgccgtccccggcctgctctg	1	8	16	16	2	1	0	0	0	1	0	2	0	2	0	5	4	3	5	5	4	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48826201G>A	ENST00000218176.3	-	1	1775	c.478C>T	c.(478-480)Cca>Tca	p.P160S		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	160						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						GGCAGGGCTGGGCCGTCCCCG	0.647													11	14					0	0	0	0	A	48826201	G	A	48826201	3	1	328	1	0	0	0	0	1	0	0	0	8071	1232	43	4	1489	4	KCND1	23	48826201	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	276701	48826201	106444359	2588	60802											
GRIPAP1	56850	broad.mit.edu	37	chrX	48841725	48841725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctgtcccataaggtcctCgtactcagcctgctgctgct	5	14	8	14	1	2	0	1	0	1	0	5	0	4	0	3	1	5	4	3	1	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48841725C>T	ENST00000376423.4	-	13	1005	c.973G>A	c.(973-975)Gag>Aag	p.E325K	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E347K|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E378K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E333K	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	378						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						ATAAGGTCCTCGTACTCAGCC	0.532													22	28					0	0	0	0	T	48841725	C	T	48841725	3	4	328	1	0	0	0	0	1	0	0	0	6839	893	31	1	1499	1	GRIPAP1	23	48841725	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	15524	48841725	106428835	2589	60803											
GPKOW	27238	broad.mit.edu	37	chrX	48974028	48974028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcccttgaggctgatcttCcttatctttctcttgctcct	4	17	6	14	0	3	2	0	2	3	0	6	2	5	2	3	1	2	2	3	1	1	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48974028C>T	ENST00000156109.5	-	5	781	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	235						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GGCTGATCTTCCTTATCTTTC	0.607													29	50					0	0	0	0	T	48974028	C	T	48974028	3	4	328	1	0	0	0	0	1	0	0	0	6662	864	30	2	755	2	GPKOW	23	48974028	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	132303	48974028	106296532	2590	60804											
CACNA1F	778	broad.mit.edu	37	chrX	49084739	49084739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagcacatcggtccagccttCcatggtgacacactggaaga	11	7	11	12	1	0	2	0	1	0	1	3	4	2	3	3	3	2	1	3	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:49084739C>T	ENST00000376265.2	-	7	1049	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E265K|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E330K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	330		Calcium ion selectivity and permeability (By similarity).			axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTCCAGCCTTCCATGGTGACA	0.587													10	24					0	0	0	0	T	49084739	C	T	49084739	3	4	328	1	0	0	0	0	1	0	0	0	2568	864	30	2	5113	2	CACNA1F	23	49084739	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	110711	49084739	106185821	2591	60805											
PPP1R3F	89801	broad.mit.edu	37	chrX	49127085	49127085	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccagctgccctttgctgaGggcgcgggcgatggggcgcg	3	8	18	12	5	0	1	0	1	0	0	1	2	1	1	2	4	3	2	2	4	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:49127085G>A	ENST00000055335.6	+	1	769	c.753G>A	c.(751-753)gaG>gaA	p.E251E	PPP1R3F_ENST00000466508.1_5'UTR|PPP1R3F_ENST00000438316.1_5'UTR|PPP1R3F_ENST00000495799.1_Intron	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	251	CBM21.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CCTTTGCTGAGGGCGCGGGCG	0.701													12	20					0	0	0	0	A	49127085	G	A	49127085	2	1	328	1	0	0	0	0	0	0	0	1	12451	991	35	4		4	PPP1R3F	23	49127085	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	42346	49127085	106143475	2592	60806											
PPP1R3F	89801	broad.mit.edu	37	chrX	49142332	49142332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactggcaaccccgcagaaGaaggtgatgtccccagaagc	12	5	12	12	1	0	5	0	2	0	3	1	5	1	5	4	2	2	2	4	2	4	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:49142332G>A	ENST00000055335.6	+	4	1196	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	PPP1R3F_ENST00000466508.1_Missense_Mutation_p.E48K|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.E65K|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.E48K|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.E48K	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	394						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CCCCGCAGAAGAAGGTGATGT	0.607													17	36					0	0	0	0	A	49142332	G	A	49142332	3	1	328	1	0	0	0	0	1	0	0	0	12451	943	33	2	1194	2	PPP1R3F	23	49142332	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	15247	49142332	106128228	2593	60807											
PAGE4	9506	broad.mit.edu	37	chrX	49597227	49597227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaagactccacctaatcCtaagcatgctaagactaaag	17	7	7	10	0	0	3	0	0	0	3	2	4	2	3	3	0	2	2	3	0	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:49597227C>T	ENST00000218068.6	+	4	345	c.266C>T	c.(265-267)cCt>cTt	p.P89L	PAGE4_ENST00000376141.1_Missense_Mutation_p.P89L	NM_007003.2	NP_008934.1	O60829	GAGC1_HUMAN	P antigen family, member 4 (prostate associated)	89												Ovarian(276;0.236)					CCACCTAATCCTAAGCATGCT	0.408													38	40					0	0	0	0	T	49597227	C	T	49597227	3	4	328	1	0	0	0	0	1	0	0	0	11463	681	24	4	276	4	PAGE4	23	49597227	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	454895	49597227	105673333	2594	60808											
AKAP4	8852	broad.mit.edu	37	chrX	49959015	49959015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaggcatacttctggagatCactgagaagccagttgagga	13	8	12	8	0	2	3	1	2	1	2	2	6	2	4	1	3	2	2	1	3	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:49959015C>T	ENST00000376056.2	-	5	472	c.322G>A	c.(322-324)Gat>Aat	p.D108N	AKAP4_ENST00000376064.3_Missense_Mutation_p.D108N|AKAP4_ENST00000358526.2_Missense_Mutation_p.D117N|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.D108N			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	117					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTCTGGAGATCACTGAGAAGC	0.453													16	29					0	0	0	0	T	49959015	C	T	49959015	3	4	328	1	0	0	0	0	1	0	0	0	453	826	29	2	2223	2	AKAP4	23	49959015	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	361788	49959015	105311545	2595	60809											
MAGED1	9500	broad.mit.edu	37	chrX	51638490	51638490	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgctgcctatgatttttcCcaggcagcaaccactggtga	10	11	9	11	0	0	2	0	2	0	0	1	2	1	2	3	2	4	3	3	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:51638490C>T	ENST00000375695.2	+	4	708	c.555C>T	c.(553-555)tcC>tcT	p.S185S	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Silent_p.S129S|MAGED1_ENST00000375722.1_Silent_p.S129S|MAGED1_ENST00000375772.3_Silent_p.S129S	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	129					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					ATGATTTTTCCCAGGCAGCAA	0.507										Multiple Myeloma(10;0.10)			9	11					0	0	0	0	T	51638490	C	T	51638490	2	4	328	1	0	0	0	0	0	0	0	1	9252	610	22	4		4	MAGED1	23	51638490	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1679475	51638490	103632070	2596	60810											
HUWE1	10075	broad.mit.edu	37	chrX	53560984	53560984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttaccatgtgtgagctgaagGcaggcgatctgtggacctgt	8	11	14	8	1	1	2	0	2	1	0	1	4	1	3	2	3	2	2	2	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:53560984G>A	ENST00000342160.3	-	82	13463	c.13006C>T	c.(13006-13008)Cct>Tct	p.P4336S	HUWE1_ENST00000262854.6_Missense_Mutation_p.P4336S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4336	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGAGCTGAAGGCAGGCGATCT	0.483													38	69					0	0	0	0	A	53560984	G	A	53560984	3	1	328	1	0	0	0	0	1	0	0	0	7514	1203	42	4	126	4	HUWE1	23	53560984	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1922494	53560984	101709576	2597	60811											
TRO	7216	broad.mit.edu	37	chrX	54955273	54955273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggagcagattttcatttGaaattgaggccagagcccaa	12	10	10	9	0	1	4	1	2	0	2	1	5	1	5	3	2	2	1	3	2	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:54955273G>A	ENST00000173898.7	+	12	2228	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.E237K|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.E309K	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	706					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATTTTCATTTGAAATTGAGGC	0.517													14	19					0	0	0	0	A	54955273	G	A	54955273	3	1	328	1	0	0	0	0	1	0	0	0	16669	1291	45	2	2158	2	TRO	23	54955273	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1394289	54955273	100315287	2598	60812											
USP51	158880	broad.mit.edu	37	chrX	55513685	55513685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atttgattttggcactgcttCctaggtgctctggccttgta	5	17	10	9	0	1	1	0	1	1	0	2	1	2	1	2	3	2	4	2	3	2	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:55513685C>T	ENST00000500968.3	-	2	1770	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	563					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GGCACTGCTTCCTAGGTGCTC	0.468													20	34					0	0	0	0	T	55513685	C	T	55513685	3	4	328	1	0	0	0	0	1	0	0	0	17179	855	30	2	451	2	USP51	23	55513685	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	558412	55513685	99756875	2599	60813											
USP51	158880	broad.mit.edu	37	chrX	55515083	55515083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcttgcggcgcgggcaaacgGgcgaggagctgctgtgacag	7	5	19	10	5	0	1	0	1	0	0	0	3	0	2	0	4	4	4	0	4	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:55515083G>A	ENST00000500968.3	-	2	372	c.290C>T	c.(289-291)cCc>cTc	p.P97L	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	97	Pro-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CGGGCAAACGGGCGAGGAGCT	0.756													7	10					0	0	0	0	A	55515083	G	A	55515083	3	1	328	1	0	0	0	0	1	0	0	0	17179	1232	43	4	1849	4	USP51	23	55515083	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1398	55515083	99755477	2600	60814											
ZXDA	7789	broad.mit.edu	37	chrX	57935882	57935882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgaagggccgcagtttatCgtgcgactgcaggtgcctct	6	9	14	12	4	1	0	0	0	1	0	2	2	1	0	3	2	3	3	3	2	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:57935882C>T	ENST00000358697.4	-	1	1185	c.973G>A	c.(973-975)Gat>Aat	p.D325N		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	325	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CGCAGTTTATCGTGCGACTGC	0.622													18	24					0	0	0	0	T	57935882	C	T	57935882	3	4	328	1	0	0	0	0	1	0	0	0	18341	884	31	1	1430	1	ZXDA	23	57935882	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2420799	57935882	97334678	2601	60815											
MTMR8	55613	broad.mit.edu	37	chrX	63565035	63565035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcataccccttcccagctGctcggttggccatggcattc	5	13	8	15	1	1	0	1	0	0	0	4	0	2	0	4	3	3	4	4	3	1	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:63565035G>T	ENST00000374852.3	-	7	822	c.755C>A	c.(754-756)gCa>gAa	p.A252E	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.A252E	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	252	Myotubularin phosphatase.|Substrate binding (By similarity).					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CTTCCCAGCTGCTCGGTTGGC	0.448													42	61					1.15183e-24	1.17684e-24	1	0	T	63565035	G	T	63565035	3	4	328	1	0	0	0	0	1	0	0	0	10019	1319	46	4	1391	4	MTMR8	23	63565035	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5629153	63565035	91705525	2602	60816											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722486	64722486	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggttaccatgaagccttAacacgagtgcagagctatgg	12	9	11	9	1	0	2	0	1	0	1	0	3	0	2	2	2	5	3	2	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:64722486A>T	ENST00000338957.4	+	5	1975	c.1908A>T	c.(1906-1908)ttA>ttT	p.L636F	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L625F	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	625							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGAAGCCTTAACACGAGTGC	0.532													15	20					0	0	0	0	T	64722486	A	T	64722486	3	4	328	1	0	0	0	0	1	0	0	0	17657	359	13	5	1926	5	ZC3H12B	23	64722486	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	1157451	64722486	90548074	2603	60817											
LAS1L	81887	broad.mit.edu	37	chrX	64737987	64737987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccacctccattctgtcttCctcttcatcatcttcatcat	6	16	1	18	0	8	0	4	0	4	0	10	0	10	0	5	0	0	0	5	0	0	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:64737987C>T	ENST00000374811.3	-	12	1847	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	LAS1L_ENST00000374807.5_Missense_Mutation_p.E586K|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374804.5_Missense_Mutation_p.E544K	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	603						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ATTCTGtcttcctcttcatca	0.527													20	25					0	0	0	0	T	64737987	C	T	64737987	3	4	328	1	0	0	0	0	1	0	0	0	8689	864	30	2	409	2	LAS1L	23	64737987	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	15501	64737987	90532573	2604	60818											
HEPH	9843	broad.mit.edu	37	chrX	65409595	65409595	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaacgtgtggcctggcActtgtttggcatgggcaatg	9	10	14	8	1	0	1	0	0	0	1	0	1	0	1	1	4	1	4	1	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:65409595A>T	ENST00000519389.1	+	6	1219	c.1040A>T	c.(1039-1041)cAc>cTc	p.H347L	HEPH_ENST00000441993.2_Missense_Mutation_p.H296L|HEPH_ENST00000419594.1_Missense_Mutation_p.H296L|HEPH_ENST00000374727.3_Missense_Mutation_p.H296L|HEPH_ENST00000336279.5_Missense_Mutation_p.H26L|HEPH_ENST00000343002.2_Missense_Mutation_p.H293L			Q9BQS7	HEPH_HUMAN	hephaestin	293	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTGGCCTGGCACTTGTTTGGC	0.443													66	73					0	0	0	0	T	65409595	A	T	65409595	3	4	328	1	0	0	0	0	1	0	0	0	7104	159	6	5	1062	5	HEPH	23	65409595	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	671608	65409595	89860965	2605	60819											
HEPH	9843	broad.mit.edu	37	chrX	65413359	65413359	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcagtatctcagataagttTttccagaagagctccagccg	12	11	8	10	1	2	3	2	0	1	3	5	3	4	3	3	0	2	3	3	0	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:65413359T>A	ENST00000519389.1	+	8	1589	c.1410T>A	c.(1408-1410)ttT>ttA	p.F470L	HEPH_ENST00000441993.2_Missense_Mutation_p.F419L|HEPH_ENST00000419594.1_Missense_Mutation_p.F419L|HEPH_ENST00000374727.3_Missense_Mutation_p.F419L|HEPH_ENST00000336279.5_Missense_Mutation_p.F149L|HEPH_ENST00000343002.2_Missense_Mutation_p.F416L			Q9BQS7	HEPH_HUMAN	hephaestin	416	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGATAAGTTTTTCCAGAAGA	0.388													20	32					0	0	0	0	A	65413359	T	A	65413359	3	1	328	1	0	0	0	0	1	0	0	0	7104	1838	64	5	1440	5	HEPH	23	65413359	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	3764	65413359	89857201	2606	60820											
OPHN1	4983	broad.mit.edu	37	chrX	67283999	67283999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggtgatagtaccattcgGtgtttgatgttggatttcat	7	17	12	5	1	1	2	1	2	0	0	2	3	1	3	1	3	1	4	1	3	2	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:67283999G>A	ENST00000355520.5	-	21	2496	c.1855C>T	c.(1855-1857)Ccg>Tcg	p.P619S	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	619					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GTACCATTCGGTGTTTGATGT	0.423													59	88					0	0	0	0	A	67283999	G	A	67283999	3	1	328	1	0	0	0	0	1	0	0	0	10946	1261	44	4	569	4	OPHN1	23	67283999	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1870640	67283999	87986561	2607	60821											
OTUD6A	139562	broad.mit.edu	37	chrX	69282986	69282986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcggctacgacgacttcatGatctactgcgacaacatcgt	10	11	8	12	5	2	1	1	1	1	0	4	4	2	1	0	1	4	1	0	1	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:69282986G>A	ENST00000338352.2	+	1	646	c.612G>A	c.(610-612)atG>atA	p.M204I		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	204	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						ACGACTTCATGATCTACTGCG	0.622													23	61					0	0	0	0	A	69282986	G	A	69282986	3	1	328	1	0	0	0	0	1	0	0	0	11387	1290	45	2	614	2	OTUD6A	23	69282986	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1998987	69282986	85987574	2608	60822											
DGAT2L6	347516	broad.mit.edu	37	chrX	69424805	69424805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttttcttttttcatagttgGggaaccccttccaattccca	7	17	5	12	0	2	0	1	0	1	0	4	1	4	1	4	2	1	1	4	2	3	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:69424805G>A	ENST00000333026.3	+	7	963	c.863G>A	c.(862-864)gGg>gAg	p.G288E		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	288					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TTCATAGTTGGGGAACCCCTT	0.473													8	31					0	0	0	0	A	69424805	G	A	69424805	3	1	328	1	0	0	0	0	1	0	0	0	4496	1232	43	4	889	4	DGAT2L6	23	69424805	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	141819	69424805	85845755	2609	60823											
RAB41	347517	broad.mit.edu	37	chrX	69502097	69502097	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttggtcacgacgaggcctgGatggaggccggaggctttgg	6	9	18	8	3	1	0	1	0	0	0	1	5	1	3	2	8	0	1	2	8	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:69502097G>A	ENST00000374473.2	+	1	76	c.30G>A	c.(28-30)tgG>tgA	p.W10*	RAB41_ENST00000276066.4_Nonsense_Mutation_p.W10*			Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	10					protein transport|small GTPase mediated signal transduction		GTP binding			breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						ACGAGGCCTGGATGGAGGCCG	0.572													36	54					0	0	0	0	A	69502097	G	A	69502097	4	1	328	1	0	0	0	0	0	1	0	0	13025	1183	41	2	32	2	RAB41	23	69502097	Nonsense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	77292	69502097	85768463	2610	60824											
TEX11	56159	broad.mit.edu	37	chrX	69871334	69871334	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctctatgactgcaatcttGaatatataaaattgagtgaa	15	13	6	7	0	2	4	0	4	2	0	2	4	2	4	1	0	1	1	1	0	8	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:69871334G>A	ENST00000395889.2	-	18	1649	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	TEX11_ENST00000374320.2_Silent_p.F173F|TEX11_ENST00000344304.3_Silent_p.F498F|TEX11_ENST00000374333.2_Silent_p.F483F	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	498							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTGCAATCTTGAATATATAAA	0.348													23	33					0	0	0	0	A	69871334	G	A	69871334	2	1	328	1	0	0	0	0	0	0	0	1	15868	1281	45	2		2	TEX11	23	69871334	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	369237	69871334	85399226	2611	60825											
FOXO4	4303	broad.mit.edu	37	chrX	70316716	70316716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagaactcatcagccaggCcattgaaagcgccccggaga	12	5	11	13	2	2	3	2	1	0	2	2	4	2	3	4	2	4	1	4	2	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70316716C>T	ENST00000374259.3	+	1	670	c.338C>T	c.(337-339)gCc>gTc	p.A113V	FOXO4_ENST00000341558.3_Splice_Site_p.A58_splice|FOXO4_ENST00000466874.1_3'UTR	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	113					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					ATCAGCCAGGCCATTGAAAGC	0.587													13	15					0	0	0	0	T	70316716	C	T	70316716	3	4	328	1	0	0	0	0	1	0	0	0	6072	753	26	4	340	4	FOXO4	23	70316716	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	445382	70316716	84953844	2612	60826											
MED12	9968	broad.mit.edu	37	chrX	70349586	70349586	+	Missense_Mutation	SNP	C	C	T																															caggaggaacagaagaacttCcagaggaggagggaggaggt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70349586C>T	ENST00000333646.6	+	27	3947	c.3748C>T	c.(3748-3750)Cca>Tca	p.P1250S	MED12_ENST00000374102.1_Missense_Mutation_p.P1250S|MED12_ENST00000374080.3_Missense_Mutation_p.P1250S	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1250					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGAAGAACTTCCAGAGGAGGA	0.577			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	10					0	0	0	0	T	70349586	C	T	70349586	3	4	328	1	0	0	0	0	1	0	0	0	9497	855	30	2	3854	2	MED12	23	70349586	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	32870	70349586	84920974	2613	60827	725	2									
MED12	9968	broad.mit.edu	37	chrX	70349587	70349587	+	Missense_Mutation	SNP	C	C	T																															aggaggaacagaagaacttcCagaggaggagggaggaggtg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70349587C>T	ENST00000333646.6	+	27	3948	c.3749C>T	c.(3748-3750)cCa>cTa	p.P1250L	MED12_ENST00000374102.1_Missense_Mutation_p.P1250L|MED12_ENST00000374080.3_Missense_Mutation_p.P1250L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1250					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GAAGAACTTCCAGAGGAGGAG	0.577			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	10					0	0	0	0	T	70349587	C	T	70349587	3	4	328	1	0	0	0	0	1	0	0	0	9497	594	21	4	3855	4	MED12	23	70349587	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	70349587	84920973	2614	60828	725	2									
NLGN3	54413	broad.mit.edu	37	chrX	70389887	70389887	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgcacccctataacacCtttgccgcagggttcaacag	11	9	7	14	1	1	0	1	0	0	0	1	0	1	0	4	1	4	3	4	1	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70389887C>T	ENST00000374051.3	+	7	2749	c.2427C>T	c.(2425-2427)acC>acT	p.T809T	NLGN3_ENST00000358741.3_Silent_p.T829T|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Silent_p.T789T	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	829					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCTATAACACCTTTGCCGCAG	0.592													23	13					0	0	0	0	T	70389887	C	T	70389887	2	4	328	1	0	0	0	0	0	0	0	1	10533	668	24	4		4	NLGN3	23	70389887	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	40300	70389887	84880673	2615	60829											
NONO	4841	broad.mit.edu	37	chrX	70514363	70514363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggacagatgcagtgaaggctCcttcctgctaaccacgtaag	11	8	11	11	1	0	2	0	1	0	1	2	3	2	3	3	2	3	4	3	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70514363C>T	ENST00000535149.1	+	3	1011	c.368C>T	c.(367-369)tCc>tTc	p.S123F	NONO_ENST00000373841.1_Missense_Mutation_p.S212F|NONO_ENST00000276079.8_Missense_Mutation_p.S212F|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.S212F	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	212	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGTGAAGGCTCCTTCCTGCTA	0.488			T	TFE3	papillary renal cancer								12	13					0	0	0	0	T	70514363	C	T	70514363	3	4	328	1	0	0	0	0	1	0	0	0	10604	855	30	2	645	2	NONO	23	70514363	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	124476	70514363	84756197	2616	60830											
OGT	8473	broad.mit.edu	37	chrX	70787526	70787526	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctggctgatgtctgcttGgacactccactctgtaatgg	7	12	11	11	0	2	1	0	1	2	0	3	2	3	2	1	3	2	4	1	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70787526G>A	ENST00000373719.3	+	20	2983	c.2766G>A	c.(2764-2766)ttG>ttA	p.L922L	OGT_ENST00000373701.3_Silent_p.L912L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	922					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ATGTCTGCTTGGACACTCCAC	0.527													26	15					0	0	0	0	A	70787526	G	A	70787526	2	1	328	1	0	0	0	0	0	0	0	1	10918	1339	47	4		4	OGT	23	70787526	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	273163	70787526	84483034	2617	60831											
PHKA1	5255	broad.mit.edu	37	chrX	71932657	71932657	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctttgccttatcctcatcCcggtctgcattcttccgata	5	15	6	15	2	3	0	1	0	2	0	6	1	6	0	5	1	2	1	5	1	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:71932657C>T	ENST00000373545.3	-	2	639	c.201G>A	c.(199-201)cgG>cgA	p.R67R	PHKA1_ENST00000339490.3_Silent_p.R67R|PHKA1_ENST00000373539.3_Silent_p.R67R|PHKA1_ENST00000373542.4_Silent_p.R67R|PHKA1_ENST00000541944.1_Silent_p.R67R			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	67					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TATCCTCATCCCGGTCTGCAT	0.493													18	24					0	0	0	0	T	71932657	C	T	71932657	2	4	328	1	0	0	0	0	0	0	0	1	11915	610	22	4		4	PHKA1	23	71932657	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1145131	71932657	83337903	2618	60832											
KIAA2022	340533	broad.mit.edu	37	chrX	73964195	73964195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcttcttagagggtagaGgcaggagacctctgggatac	10	8	16	7	0	2	3	0	0	2	3	2	5	2	4	1	5	1	3	1	5	3	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:73964195G>A	ENST00000373468.1	-	3	848	c.197C>T	c.(196-198)cCt>cTt	p.P66L	KIAA2022_ENST00000055682.5_Missense_Mutation_p.P66L			Q5QGS0	K2022_HUMAN	KIAA2022	66					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGAGGGTAGAGGCAGGAGACC	0.532													27	42					0	0	0	0	A	73964195	G	A	73964195	3	1	328	1	0	0	0	0	1	0	0	0	8320	1000	35	4	4361	4	KIAA2022	23	73964195	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2031538	73964195	81306365	2619	60833											
MAGEE2	139599	broad.mit.edu	37	chrX	75004090	75004090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catctgacacaaacttcaggGcttccatctttgtgatttcc	9	14	6	12	0	3	2	1	2	2	0	5	2	5	2	2	1	1	1	2	1	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:75004090G>A	ENST00000373359.2	-	1	989	c.797C>T	c.(796-798)gCc>gTc	p.A266V		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	266	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAACTTCAGGGCTTCCATCTT	0.488													59	65					0	0	0	0	A	75004090	G	A	75004090	3	1	328	1	0	0	0	0	1	0	0	0	9255	1203	42	4	778	4	MAGEE2	23	75004090	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1039895	75004090	80266470	2620	60834											
MAGEE1	57692	broad.mit.edu	37	chrX	75648905	75648905	+	Silent	SNP	G	G	A																															gtggtgcccacccctgatgaGggaccaagcacctccgtgct																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:75648905G>A	ENST00000361470.2	+	1	860	c.582G>A	c.(580-582)gaG>gaA	p.E194E		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	194	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCCCTGATGAGGGACCAAGCA	0.697													6	24					0	0	0	0	A	75648905	G	A	75648905	2	1	328	1	0	0	0	0	0	0	0	1	9254	991	35	4		4	MAGEE1	23	75648905	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	644815	75648905	79621655	2621	60835	726	2									
MAGEE1	57692	broad.mit.edu	37	chrX	75648906	75648906	+	Missense_Mutation	SNP	G	G	A																															tggtgcccacccctgatgagGgaccaagcacctccgtgctg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:75648906G>A	ENST00000361470.2	+	1	861	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	195	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCCTGATGAGGGACCAAGCAC	0.697													6	23					0	0	0	0	A	75648906	G	A	75648906	3	1	328	1	0	0	0	0	1	0	0	0	9254	1233	43	4	585	4	MAGEE1	23	75648906	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	75648906	79621654	2622	60836	726	2									
MAGEE1	57692	broad.mit.edu	37	chrX	75649270	75649270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccactgctggtgagggatCgagcacctccgtgccgccca	6	6	13	16	3	0	1	0	1	0	0	2	3	1	2	5	2	3	2	5	2	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:75649270C>T	ENST00000361470.2	+	1	1225	c.947C>T	c.(946-948)tCg>tTg	p.S316L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	316	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GGTGAGGGATCGAGCACCTCC	0.711													13	24					0	0	0	0	T	75649270	C	T	75649270	3	4	328	1	0	0	0	0	1	0	0	0	9254	893	31	1	949	1	MAGEE1	23	75649270	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	364	75649270	79621290	2623	60837											
MAGEE1	57692	broad.mit.edu	37	chrX	75650684	75650684	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtgttccctgacctcctGaatcgtgctgcccgcaccct	7	10	8	16	2	0	2	0	2	0	0	3	2	2	2	5	0	2	3	5	0	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:75650684G>A	ENST00000361470.2	+	1	2639	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	787	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGACCTCCTGAATCGTGCTG	0.473													65	69					0	0	0	0	A	75650684	G	A	75650684	2	1	328	1	0	0	0	0	0	0	0	1	9254	1277	45	2		2	MAGEE1	23	75650684	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1414	75650684	79619876	2624	60838											
ATRX	546	broad.mit.edu	37	chrX	76874400	76874400	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaatctattcctgaactcCttaatggatccaagtaaatt	15	14	4	8	0	1	1	0	1	1	0	4	2	4	2	3	1	1	1	3	1	8	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:76874400C>T	ENST00000373344.5	-	21	5536	c.5322G>A	c.(5320-5322)aaG>aaA	p.K1774K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.K1736K	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1774					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCTGAACTCCTTAATGGATC	0.318			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						29	37					0	0	0	0	T	76874400	C	T	76874400	2	4	328	1	0	0	0	0	0	0	0	1	1212	680	24	4		4	ATRX	23	76874400	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1223716	76874400	78396160	2625	60839											
ATRX	546	broad.mit.edu	37	chrX	76889053	76889053	+	Splice_Site	SNP	C	C	T																															aaaacatttaaaataagttaCctcaagcttctcatcatctt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:76889053C>T	ENST00000373344.5	-	18	5171		c.e18+1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAATAAGTTACCTCAAGCTTC	0.279			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						34	57					0	0	0	0	T	76889053	C	T	76889053	5	4	328	1	0	0	0	0	0	0	1	0	1212	521	18	4	2593	4	ATRX	23	76889053	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	14653	76889053	78381507	2626	60840	727	2									
ATRX	546	broad.mit.edu	37	chrX	76889054	76889054	+	Splice_Site	SNP	C	C	T																															aaacatttaaaataagttacCtcaagcttctcatcatcttt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:76889054C>T	ENST00000373344.5	-	18	5170	c.4956_splice	c.e18+1	p.E1652_splice	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.E1614_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1652	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATAAGTTACCTCAAGCTTCT	0.279			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						34	58					0	0	0	0	T	76889054	C	T	76889054	5	4	328	1	0	0	0	0	0	0	1	0	1212	695	24	4	2594	4	ATRX	23	76889054	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	76889054	78381506	2627	60841	727	2									
ATRX	546	broad.mit.edu	37	chrX	76920140	76920140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggggagctcaccctcatCtcctgggttttcttcatttt	4	17	8	12	0	6	0	3	0	3	0	7	1	6	1	2	3	1	2	2	3	0	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:76920140C>T	ENST00000373344.5	-	11	4151	c.3937G>A	c.(3937-3939)Gat>Aat	p.D1313N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1275N	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1313					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCACCCTCATCTCCTGGGTTT	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						62	89					0	0	0	0	T	76920140	C	T	76920140	3	4	328	1	0	0	0	0	1	0	0	0	1212	913	32	2	3641	2	ATRX	23	76920140	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	31086	76920140	78350420	2628	60842											
ATRX	546	broad.mit.edu	37	chrX	76938406	76938406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagatgtagaactttttCgtttcctttttcctttatca	8	19	5	9	1	1	2	1	0	0	2	4	2	3	2	3	0	2	2	3	0	3	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:76938406C>T	ENST00000373344.5	-	9	2556	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R743Q	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	781					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGAACTTTTTCGTTTCCTTTT	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						124	123					0	0	0	0	T	76938406	C	T	76938406	3	4	328	1	0	0	0	0	1	0	0	0	1212	884	31	1	5244	1	ATRX	23	76938406	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	18266	76938406	78332154	2629	60843											
PGAM4	441531	broad.mit.edu	37	chrX	77224941	77224941	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctagcactgtccagagggtCcggatcactctcttctgcac	7	11	9	14	1	4	1	1	0	3	1	7	2	6	2	2	2	2	2	2	2	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:77224941C>T	ENST00000458128.1	-	1	194	c.195G>A	c.(193-195)cgG>cgA	p.R65R	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	65					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						TCCAGAGGGTCCGGATCACTC	0.607													83	152					0	0	0	0	T	77224941	C	T	77224941	2	4	328	1	0	0	0	0	0	0	0	1	11847	842	30	2		2	PGAM4	23	77224941	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	286535	77224941	78045619	2630	60844											
ATP7A	538	broad.mit.edu	37	chrX	77258710	77258710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatagaaaatgctgatgaaGgagatggtgttttggaactt	13	13	13	2	0	0	5	0	3	0	2	0	7	0	6	0	3	2	2	0	3	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:77258710G>A	ENST00000341514.6	+	6	1839	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.G562R	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	562					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TGCTGATGAAGGAGATGGTGT	0.368													86	109					0	0	0	0	A	77258710	G	A	77258710	3	1	328	1	0	0	0	0	1	0	0	0	1194	1001	35	4	1702	4	ATP7A	23	77258710	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	33769	77258710	78011850	2631	60845											
ZCCHC5	203430	broad.mit.edu	37	chrX	77912704	77912704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtccatctccctctgcagagGaacttttccctaatggattg	8	13	8	12	0	2	1	0	0	2	1	5	3	4	3	3	2	2	1	3	2	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:77912704G>A	ENST00000321110.1	-	2	1509	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	405							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTCTGCAGAGGAACTTTTCCC	0.522													46	50					0	0	0	0	A	77912704	G	A	77912704	3	1	328	1	0	0	0	0	1	0	0	0	17686	1174	41	2	217	2	ZCCHC5	23	77912704	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	653994	77912704	77357856	2632	60846											
LPAR4	2846	broad.mit.edu	37	chrX	78010777	78010777	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtattagtgtggatcgtttCctggccattgtctatccttt	5	19	9	8	1	1	0	0	0	1	0	4	1	3	1	3	2	0	2	3	2	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:78010777C>T	ENST00000435339.2	+	2	816	c.411C>T	c.(409-411)ttC>ttT	p.F137F	LPAR4_ENST00000373301.2_Silent_p.F137F	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	137						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGGATCGTTTCCTGGCCATTG	0.483													56	87					0	0	0	0	T	78010777	C	T	78010777	2	4	328	1	0	0	0	0	0	0	0	1	8971	854	30	2		2	LPAR4	23	78010777	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	98073	78010777	77259783	2633	60847											
ITM2A	9452	broad.mit.edu	37	chrX	78622602	78622602	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgccctgggacagctacCttgccggtcagtatctgagt	6	10	11	14	2	2	1	1	1	1	0	3	2	3	2	4	2	3	2	4	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:78622602C>T	ENST00000434584.2	-	1	447	c.111_splice	c.e1+1	p.K37_splice	ITM2A_ENST00000373298.2_Splice_Site_p.K37_splice	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	37						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGACAGCTACCTTGCCGGTCA	0.622													6	10					0	0	0	0	T	78622602	C	T	78622602	5	4	328	1	0	0	0	0	0	0	1	0	7965	695	24	4	704	4	ITM2A	23	78622602	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	611825	78622602	76647958	2634	60848											
FAM46D	169966	broad.mit.edu	37	chrX	79698393	79698393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taccaaaagatgtaaagaagGaaaagctctccccagatatc	18	7	7	9	0	1	3	0	0	1	3	3	4	1	4	3	1	2	2	3	1	9	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:79698393G>A	ENST00000538312.1	+	5	689	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	FAM46D_ENST00000308293.5_Missense_Mutation_p.E119K	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	119										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGTAAAGAAGGAAAAGCTCTC	0.378													42	93					0	0	0	0	A	79698393	G	A	79698393	3	1	328	1	0	0	0	0	1	0	0	0	5615	1175	41	2	357	2	FAM46D	23	79698393	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1075791	79698393	75572167	2635	60849											
BRWD3	254065	broad.mit.edu	37	chrX	79955510	79955510	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaattaacactgtatattttCgatttccttacagcccgaac	13	14	4	10	2	0	0	0	0	0	0	2	2	1	0	2	0	4	1	2	0	6	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:79955510C>T	ENST00000373275.4	-	25	3105	c.2889G>A	c.(2887-2889)tcG>tcA	p.S963S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	963										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGTATATTTTCGATTTCCTTA	0.348													12	27					0	0	0	0	T	79955510	C	T	79955510	2	4	328	1	0	0	0	0	0	0	0	1	1534	871	31	1		1	BRWD3	23	79955510	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	257117	79955510	75315050	2636	60850											
BRWD3	254065	broad.mit.edu	37	chrX	79991559	79991559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccagtagaagtgaggtatCtgtttgtgcctttagttgat	9	15	11	6	0	1	3	0	2	1	1	1	3	1	3	2	1	1	4	2	1	4	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:79991559C>T	ENST00000373275.4	-	9	1058	c.842G>A	c.(841-843)aGa>aAa	p.R281K		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	281										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGTGAGGTATCTGTTTGTGCC	0.308													16	25					0	0	0	0	T	79991559	C	T	79991559	3	4	328	1	0	0	0	0	1	0	0	0	1534	913	32	2	4698	2	BRWD3	23	79991559	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	36049	79991559	75279001	2637	60851											
CYLC1	1538	broad.mit.edu	37	chrX	83128942	83128942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattacattctctactgattCtgaatctgaactggagtcaa	13	14	6	8	0	4	3	1	3	3	0	5	4	4	4	0	1	3	0	0	1	6	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:83128942C>T	ENST00000329312.4	+	4	1263	c.1226C>T	c.(1225-1227)tCt>tTt	p.S409F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	409					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCTACTGATTCTGAATCTGAA	0.318													13	11					0	0	0	0	T	83128942	C	T	83128942	3	4	328	1	0	0	0	0	1	0	0	0	4173	913	32	2	1240	2	CYLC1	23	83128942	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3137383	83128942	72141618	2638	60852											
CYLC1	1538	broad.mit.edu	37	chrX	83129261	83129261	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaagaaggatgcaagaaaGgacacagagtctactgatgc	17	6	11	7	0	2	4	1	1	1	3	2	6	2	6	0	2	3	1	0	2	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:83129261G>A	ENST00000329312.4	+	4	1582	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	515					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATGCAAGAAAGGACACAGAGT	0.353													19	31					0	0	0	0	A	83129261	G	A	83129261	2	1	328	1	0	0	0	0	0	0	0	1	4173	991	35	4		4	CYLC1	23	83129261	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	319	83129261	72141299	2639	60853											
RPS6KA6	27330	broad.mit.edu	37	chrX	83374962	83374962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttactacttcaggagcCatatactctactgtaccaca	12	13	4	12	0	2	0	1	0	1	0	2	1	2	1	2	1	6	1	2	1	7	9			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:83374962C>T	ENST00000262752.2	-	9	727	c.720G>A	c.(718-720)atG>atA	p.M240I	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.M240I	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	240	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTCAGGAGCCATATACTCTA	0.368													53	67					0	0	0	0	T	83374962	C	T	83374962	3	4	328	1	0	0	0	0	1	0	0	0	13740	594	21	4	1573	4	RPS6KA6	23	83374962	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	245701	83374962	71895598	2640	60854											
RPS6KA6	27330	broad.mit.edu	37	chrX	83402052	83402052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccctctccatctttgtccGaactctgtctcgaactaaaa	10	13	4	14	2	4	0	0	0	4	0	8	2	6	0	3	0	2	0	3	0	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:83402052G>A	ENST00000262752.2	-	5	362	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R119W	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	119	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATCTTTGTCCGAACTCTGTCT	0.289													33	47					0	0	0	0	A	83402052	G	A	83402052	3	1	328	1	0	0	0	0	1	0	0	0	13740	1057	37	1	1954	1	RPS6KA6	23	83402052	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	27090	83402052	71868508	2641	60855											
DACH2	117154	broad.mit.edu	37	chrX	85403797	85403797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcaacagtgccggaggcgGcggcaggggcaacaccaaca	12	1	15	13	3	0	0	0	0	0	0	0	1	0	1	2	6	5	3	2	6	3	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:85403797G>A	ENST00000373131.1	+	1	336	c.173G>A	c.(172-174)gGc>gAc	p.G58D	DACH2_ENST00000373125.4_Missense_Mutation_p.G58D	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	58	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GCCGGAGGCGGCGGCAGGGGC	0.572													35	33					0	0	0	0	A	85403797	G	A	85403797	3	1	328	1	0	0	0	0	1	0	0	0	4254	1203	42	4	175	4	DACH2	23	85403797	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2001745	85403797	69866763	2642	60856											
DACH2	117154	broad.mit.edu	37	chrX	85906077	85906077	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctgaggcgatgaaacttCagaagatgaagcttatggct	12	10	13	6	1	1	5	1	3	0	2	1	6	1	5	0	3	2	3	0	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:85906077C>T	ENST00000373131.1	+	3	803	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	DACH2_ENST00000508860.1_Nonsense_Mutation_p.Q60*|DACH2_ENST00000510272.1_Nonsense_Mutation_p.Q8*|DACH2_ENST00000373125.4_Nonsense_Mutation_p.Q227*	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GATGAAACTTCAGAAGATGAA	0.363													19	20					0	0	0	0	T	85906077	C	T	85906077	4	4	328	1	0	0	0	0	0	1	0	0	4254	827	29	2	693	2	DACH2	23	85906077	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	502280	85906077	69364483	2643	60857											
KLHL4	56062	broad.mit.edu	37	chrX	86773015	86773015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagctgtcttcagcaggaagGatatgagcatagagggaccc	13	7	13	8	0	2	2	1	1	1	1	2	5	2	5	1	3	3	3	1	3	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:86773015G>A	ENST00000373119.4	+	1	264	c.119G>A	c.(118-120)gGa>gAa	p.G40E	KLHL4_ENST00000373114.4_Missense_Mutation_p.G40E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	40						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.G40V(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CAGCAGGAAGGATATGAGCAT	0.488													29	80					0	0	0	0	A	86773015	G	A	86773015	3	1	328	1	0	0	0	0	1	0	0	0	8443	1174	41	2	121	2	KLHL4	23	86773015	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	866938	86773015	68497545	2644	60858											
KLHL4	56062	broad.mit.edu	37	chrX	86887299	86887299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggcttcaatttggagtcGcagttattgataataagctc	11	14	10	6	1	1	1	1	1	0	0	3	2	1	2	0	2	1	5	0	2	5	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:86887299G>A	ENST00000373119.4	+	7	1559	c.1414G>A	c.(1414-1416)Gca>Aca	p.A472T	KLHL4_ENST00000373114.4_Missense_Mutation_p.A472T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	472						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATTTGGAGTCGCAGTTATTGA	0.408													25	42					0	0	0	0	A	86887299	G	A	86887299	3	1	328	1	0	0	0	0	1	0	0	0	8443	1087	38	1	1440	1	KLHL4	23	86887299	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	114284	86887299	68383261	2645	60859											
PABPC5	140886	broad.mit.edu	37	chrX	90691155	90691155	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggctgaggtcagaaccagGgatagagcaactttcaccaa	13	6	12	10	1	2	3	2	1	0	2	2	4	2	4	2	3	3	2	2	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:90691155G>A	ENST00000312600.3	+	2	793	c.579G>A	c.(577-579)agG>agA	p.R193R	PABPC5_ENST00000373105.1_Silent_p.R29R	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	193						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TCAGAACCAGGGATAGAGCAA	0.473													27	31					0	0	0	0	A	90691155	G	A	90691155	2	1	328	1	0	0	0	0	0	0	0	1	11438	1223	43	4		4	PABPC5	23	90691155	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3803856	90691155	64579405	2646	60860											
PABPC5	140886	broad.mit.edu	37	chrX	90691537	90691537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgatgaaaaactgaaggagGaattttcttcctttgggtca	13	13	10	5	0	2	3	1	3	1	0	3	5	3	5	1	3	1	0	1	3	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:90691537G>A	ENST00000312600.3	+	2	1175	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	PABPC5_ENST00000373105.1_Missense_Mutation_p.E157K	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	321	RRM 4.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						ACTGAAGGAGGAATTTTCTTC	0.438													33	73					0	0	0	0	A	90691537	G	A	90691537	3	1	328	1	0	0	0	0	1	0	0	0	11438	1175	41	2	963	2	PABPC5	23	90691537	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	382	90691537	64579023	2647	60861											
PCDH11X	27328	broad.mit.edu	37	chrX	91131890	91131890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaaggatacctacgtgatGaaagtaaaggttgaagatgg	16	8	14	3	1	0	5	0	3	0	2	0	7	0	6	1	3	2	2	1	3	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:91131890G>A	ENST00000373094.1	+	2	1496	c.651G>A	c.(649-651)atG>atA	p.M217I	PCDH11X_ENST00000361655.2_Missense_Mutation_p.M217I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.M217I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.M217I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.M217I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	217	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCTACGTGATGAAAGTAAAGG	0.413													70	143					0	0	0	0	A	91131890	G	A	91131890	3	1	328	1	0	0	0	0	1	0	0	0	11579	1290	45	2	657	2	PCDH11X	23	91131890	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	440353	91131890	64138670	2648	60862											
PCDH11X	27328	broad.mit.edu	37	chrX	91873700	91873700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaggttattgccctccatCgtagtcaggcccaatcatca	10	10	7	14	1	3	0	3	0	0	0	5	0	4	0	3	2	1	2	3	2	3	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:91873700C>T	ENST00000373094.1	+	7	4650	c.3805C>T	c.(3805-3807)Cgt>Tgt	p.R1269C	PCDH11X_ENST00000361655.2_Missense_Mutation_p.R1251C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R1232C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R1232C|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R1259C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R1261C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1269					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCCCTCCATCGTAGTCAGGC	0.552													105	161					0	0	0	0	T	91873700	C	T	91873700	3	4	328	1	0	0	0	0	1	0	0	0	11579	884	31	1	3953	1	PCDH11X	23	91873700	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	741810	91873700	63396860	2649	60863											
DIAPH2	1730	broad.mit.edu	37	chrX	96136647	96136647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgttcatgaattacgatcgGgtatatcagatgagaaactt	14	13	9	5	2	2	3	2	2	0	2	3	5	2	3	0	1	2	2	0	1	5	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:96136647G>A	ENST00000324765.8	+	5	864	c.517G>A	c.(517-519)Ggt>Agt	p.G173S	DIAPH2_ENST00000355827.4_Missense_Mutation_p.G173S|DIAPH2_ENST00000373054.4_Missense_Mutation_p.G169S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.G173S|DIAPH2_ENST00000373061.3_Missense_Mutation_p.G173S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	173	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ATTACGATCGGGTATATCAGA	0.383													30	44					0	0	0	0	A	96136647	G	A	96136647	3	1	328	1	0	0	0	0	1	0	0	0	4556	1232	43	4	535	4	DIAPH2	23	96136647	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4262947	96136647	59133913	2650	60864											
SYTL4	94121	broad.mit.edu	37	chrX	99956598	99956598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcaccgggcacaggtcCgatcactgtagtgttggctg	6	9	14	12	2	1	0	1	0	0	0	2	1	2	0	3	4	0	5	3	4	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:99956598C>T	ENST00000372981.1	-	3	368	c.182G>A	c.(181-183)cGg>cAg	p.R61Q	SYTL4_ENST00000455616.1_Missense_Mutation_p.R61Q|SYTL4_ENST00000276141.6_Missense_Mutation_p.R61Q|SYTL4_ENST00000372989.1_Missense_Mutation_p.R61Q|SYTL4_ENST00000263033.5_Missense_Mutation_p.R61Q|SYTL4_ENST00000454200.2_Missense_Mutation_p.R61Q			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	61	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCACAGGTCCGATCACTGTA	0.537													47	70					0	0	0	0	T	99956598	C	T	99956598	3	4	328	1	0	0	0	0	1	0	0	0	15576	652	23	1	1893	1	SYTL4	23	99956598	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	3819951	99956598	55313962	2651	60865											
NOX1	27035	broad.mit.edu	37	chrX	100117396	100117396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttacccaatgccgtgaatcCctaagccaaggatatagaag	14	8	8	11	1	0	2	0	1	0	1	1	3	1	3	4	1	3	0	4	1	8	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:100117396C>T	ENST00000372966.3	-	6	861	c.656G>A	c.(655-657)gGg>gAg	p.G219E	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.G219E|NOX1_ENST00000372960.4_Missense_Mutation_p.G182E	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	219	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GCCGTGAATCCCTAAGCCAAG	0.433													86	173					0	0	0	0	T	100117396	C	T	100117396	3	4	328	1	0	0	0	0	1	0	0	0	10626	623	22	4	1070	4	NOX1	23	100117396	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	160798	100117396	55153164	2652	60866											
TMEM35	59353	broad.mit.edu	37	chrX	100334063	100334063	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcttctttgttttcatgggGactatcaagctgacccccag	7	14	8	12	0	4	1	2	1	2	0	4	2	4	2	2	2	1	2	2	2	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:100334063G>A	ENST00000372930.4	+	1	355	c.72G>A	c.(70-72)ggG>ggA	p.G24G		NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	24						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						TTTTCATGGGGACTATCAAGC	0.557													27	19					0	0	0	0	A	100334063	G	A	100334063	2	1	328	1	0	0	0	0	0	0	0	1	16251	1161	41	2		2	TMEM35	23	100334063	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	216667	100334063	54936497	2653	60867											
TAF7L	54457	broad.mit.edu	37	chrX	100547782	100547782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttaaaaaaccacctacctttCccttcctggaagttttctgg	10	14	5	12	0	1	0	0	0	1	0	3	1	3	1	5	2	2	1	5	2	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:100547782C>T	ENST00000372907.3	-	1	263	c.252G>A	c.(250-252)ggG>ggA	p.G84G	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	84					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACCTACCTTTCCCTTCCTGGA	0.532													63	54					0	0	0	0	T	100547782	C	T	100547782	2	4	328	1	0	0	0	0	0	0	0	1	15624	842	30	2		2	TAF7L	23	100547782	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	213719	100547782	54722778	2654	60868											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667349	100667349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcccatttggctgtagcaagGaagagattgttcagttcttt	9	15	10	7	0	2	1	1	0	1	1	3	3	3	2	1	2	1	5	1	2	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:100667349G>A	ENST00000316594.5	+	2	451	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	125	RRM 2.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						CTGTAGCAAGGAAGAGATTGT	0.502													71	84					0	0	0	0	A	100667349	G	A	100667349	3	1	328	1	0	0	0	0	1	0	0	0	7317	1175	41	2	375	2	HNRNPH2	23	100667349	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	119567	100667349	54603211	2655	60869											
ZMAT1	84460	broad.mit.edu	37	chrX	101139505	101139505	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaaagagtcatatgtcttCtttgaatgaggtaactgctt	11	15	10	5	0	3	3	1	2	2	1	3	4	3	4	0	2	2	2	0	2	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:101139505C>T	ENST00000458570.1	-	9	1711	c.381G>A	c.(379-381)aaG>aaA	p.K127K	ZMAT1_ENST00000372782.3_Silent_p.K298K|ZMAT1_ENST00000540921.1_Silent_p.K298K|ZMAT1_ENST00000494068.1_5'UTR			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	127						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CATATGTCTTCTTTGAATGAG	0.378													50	118					0	0	0	0	T	101139505	C	T	101139505	2	4	328	1	0	0	0	0	0	0	0	1	17786	912	32	2		2	ZMAT1	23	101139505	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	472156	101139505	54131055	2656	60870											
NXF2	56001	broad.mit.edu	37	chrX	101581424	101581424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaggccttcaagcaaatctCctaaaaggagccctccgatg	13	7	9	12	1	2	1	1	0	1	1	4	3	3	2	4	2	2	1	4	2	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:101581424C>T	ENST00000395088.2	+	34	3749	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	NXF2_ENST00000372758.1_Missense_Mutation_p.S626F|NXF2_ENST00000372757.1_Missense_Mutation_p.S626F|NXF2_ENST00000372763.1_3'UTR|NXF2_ENST00000330252.5_Missense_Mutation_p.S626F			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	626					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding			endometrium(2)|lung(2)	4						AAGCAAATCTCCTAAAAGGAG	0.498													29	153					0	0	0	0	T	101581424	C	T	101581424	3	4	328	1	0	0	0	0	1	0	0	0	10854	855	30	2	1959	2	NXF2	23	101581424	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	441919	101581424	53689136	2657	60871											
GPRASP1	9737	broad.mit.edu	37	chrX	101911582	101911582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgggtcctggttctgggatgGaaaagaagtcagtgaagaag	12	9	16	4	0	2	3	1	1	1	2	3	5	3	5	1	4	0	1	1	4	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:101911582G>A	ENST00000537097.1	+	6	3554	c.2741G>A	c.(2740-2742)gGa>gAa	p.G914E	GPRASP1_ENST00000361600.5_Missense_Mutation_p.G914E|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G914E|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G914E|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	914	Glu-rich.|OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTCTGGGATGGAAAAGAAGTC	0.478													61	90					0	0	0	0	A	101911582	G	A	101911582	3	1	328	1	0	0	0	0	1	0	0	0	6772	1174	41	2	2743	2	GPRASP1	23	101911582	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	330158	101911582	53358978	2658	60872											
GPRASP2	114928	broad.mit.edu	37	chrX	101969893	101969893	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgagagagagaatgatgtCcctctggtggtcagacccaa	11	8	12	10	0	2	5	1	2	1	3	3	7	3	5	3	2	0	0	3	2	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:101969893C>T	ENST00000543253.1	+	5	1015	c.96C>T	c.(94-96)gtC>gtT	p.V32V	GPRASP2_ENST00000332262.5_Silent_p.V32V|GPRASP2_ENST00000535209.1_Silent_p.V32V	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGAATGATGTCCCTCTGGTGG	0.572													78	96					0	0	0	0	T	101969893	C	T	101969893	2	4	328	1	0	0	0	0	0	0	0	1	6773	842	30	2		2	GPRASP2	23	101969893	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	58311	101969893	53300667	2659	60873											
GPRASP2	114928	broad.mit.edu	37	chrX	101971499	101971499	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accggtcagtccgggaaattCgagagcatcttagggccagg	10	7	14	10	3	2	1	1	0	1	1	4	3	3	2	3	4	1	1	3	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:101971499C>T	ENST00000543253.1	+	5	2621	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.R568*|GPRASP2_ENST00000535209.1_Nonsense_Mutation_p.R568*	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2									p.R568*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CCGGGAAATTCGAGAGCATCT	0.483													65	93					0	0	0	0	T	101971499	C	T	101971499	4	4	328	1	0	0	0	0	0	1	0	0	6773	876	31	1	1704	1	GPRASP2	23	101971499	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1606	101971499	53299061	2660	60874											
NXF3	56000	broad.mit.edu	37	chrX	102339350	102339350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggaggtttttgctctctctCcatgttaacgtgggtttggt	4	18	12	7	1	2	0	0	0	2	0	4	1	2	1	1	4	2	4	1	4	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:102339350C>T	ENST00000395065.3	-	3	372	c.271G>A	c.(271-273)Gag>Aag	p.E91K	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.E2K	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	91						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGCTCTCTCTCCATGTTAACG	0.473													65	99					0	0	0	0	T	102339350	C	T	102339350	3	4	328	1	0	0	0	0	1	0	0	0	10856	864	30	2	1392	2	NXF3	23	102339350	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	367851	102339350	52931210	2661	60875											
WBP5	51186	broad.mit.edu	37	chrX	102612735	102612735	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagaggaggaggccaaagcAaaaggaacttttagagaaag	18	5	13	5	0	0	2	0	0	0	2	0	6	0	5	1	4	2	1	1	4	7	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:102612735A>C	ENST00000372661.3	+	3	434	c.123A>C	c.(121-123)gcA>gcC	p.A41A	WBP5_ENST00000372656.3_Silent_p.A41A	NM_001006612.1|NM_016303.2	NP_001006613.1|NP_057387.1	Q9UHQ7	WPB5_HUMAN	WW domain binding protein 5	41	Glu-rich.									breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						AGGCCAAAGCAAAAGGAACTT	0.418													33	44					0	0	0	0	C	102612735	A	C	102612735	2	2	328	1	0	0	0	0	0	0	0	1	17358	117	5	5		5	WBP5	23	102612735	Silent	SNP	A	TCGA-CV-7568-01A-11D-2229-08	273385	102612735	52657825	2662	60876											
ZCCHC18	644353	broad.mit.edu	37	chrX	103359851	103359851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatacacaacccgctgttCatattgtggggaggagggcc	12	8	12	9	1	1	0	1	0	0	0	1	2	1	2	2	4	2	2	2	4	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:103359851C>T	ENST00000537356.2	+	1	1049	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L	ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	350							nucleic acid binding|zinc ion binding										ACCCGCTGTTCATATTGTGGG	0.493													6	12					0	0	0	0	T	103359851	C	T	103359851	3	4	328	1	0	0	0	0	1	0	0	0	17681	838	29	2	1051	2	ZCCHC18	23	103359851	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	747116	103359851	51910709	2663	60877											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104440200	104440200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggatctcaagacatacatGgctttggcaggtgaaccagt	11	10	12	8	0	1	2	1	1	1	1	2	3	1	3	1	4	2	2	1	4	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:104440200G>A	ENST00000372582.1	+	3	882	c.126G>A	c.(124-126)atG>atA	p.M42I	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.M42I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	42	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGACATACATGGCTTTGGCAG	0.453													59	54					0	0	0	0	A	104440200	G	A	104440200	3	1	328	1	0	0	0	0	1	0	0	0	7715	1348	47	4	132	4	IL1RAPL2	23	104440200	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1080349	104440200	50830360	2664	60878											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104728346	104728346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaagccattgttccccatgGagaatcagccaagtgttata	12	10	8	11	0	1	1	1	0	0	1	2	2	2	1	5	1	2	2	5	1	5	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:104728346G>A	ENST00000372582.1	+	6	1495	c.739G>A	c.(739-741)Gag>Aag	p.E247K	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E247K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	247	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTTCCCCATGGAGAATCAGCC	0.408													40	41					0	0	0	0	A	104728346	G	A	104728346	3	1	328	1	0	0	0	0	1	0	0	0	7715	1175	41	2	757	2	IL1RAPL2	23	104728346	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	288146	104728346	50542214	2665	60879											
NRK	203447	broad.mit.edu	37	chrX	105153194	105153194	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaggtaccagaggaatttCagggtcaagatcaggtaccc	13	7	11	10	0	3	2	3	0	0	2	3	3	3	3	3	4	2	2	3	4	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:105153194C>T	ENST00000428173.2	+	13	1867	c.1564C>T	c.(1564-1566)Cag>Tag	p.Q522*	NRK_ENST00000243300.9_Nonsense_Mutation_p.Q521*			Q7Z2Y5	NRK_HUMAN	Nik related kinase	521	Gln-rich.			G -> S (in Ref. 1; CAD98108).			ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Q521*(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGAGGAATTTCAGGGTCAAGA	0.542										HNSCC(51;0.14)			19	38					0	0	0	0	T	105153194	C	T	105153194	4	4	328	1	0	0	0	0	0	1	0	0	10726	827	29	2	1611	2	NRK	23	105153194	Nonsense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	424848	105153194	50117366	2666	60880											
SERPINA7	6906	broad.mit.edu	37	chrX	105279276	105279276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actaggtgatagtattgttcCatctggtgcatcatgggcac	9	13	11	8	0	2	1	1	1	1	0	3	1	3	1	1	3	1	4	1	3	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:105279276C>T	ENST00000327674.4	-	2	1058	c.723G>A	c.(721-723)atG>atA	p.M241I	SERPINA7_ENST00000372563.1_Missense_Mutation_p.M241I			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	241					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGTATTGTTCCATCTGGTGCA	0.458													62	78					0	0	0	0	T	105279276	C	T	105279276	3	4	328	1	0	0	0	0	1	0	0	0	14181	594	21	4	536	4	SERPINA7	23	105279276	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	126082	105279276	49991284	2667	60881											
CXorf57	55086	broad.mit.edu	37	chrX	105879862	105879862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaccactacaaatgagagtGgagtgtttattactggtgag	12	12	11	6	0	1	2	1	2	0	1	1	4	1	3	1	2	2	1	1	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:105879862G>A	ENST00000372548.4	+	7	1502	c.1393G>A	c.(1393-1395)Gga>Aga	p.G465R	CXorf57_ENST00000372544.2_Missense_Mutation_p.G465R	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	465										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATGAGAGTGGAGTGTTTAT	0.313													36	49					0	0	0	0	A	105879862	G	A	105879862	3	1	328	1	0	0	0	0	1	0	0	0	4145	1349	47	4	1419	4	CXorf57	23	105879862	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	600586	105879862	49390698	2668	60882											
COL4A6	1288	broad.mit.edu	37	chrX	107430382	107430382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccttgcctttatctccaGgaagcccacggggtccagga	8	9	10	14	1	1	0	0	0	1	0	4	2	3	2	5	4	2	0	5	4	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107430382G>A	ENST00000394872.2	-	23	2129	c.1898C>T	c.(1897-1899)cCt>cTt	p.P633L	COL4A6_ENST00000538570.1_Missense_Mutation_p.P632L|COL4A6_ENST00000372216.4_Missense_Mutation_p.P633L|COL4A6_ENST00000334504.7_Missense_Mutation_p.P632L|COL4A6_ENST00000545689.1_Missense_Mutation_p.P632L			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	633	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTTATCTCCAGGAAGCCCACG	0.532									Alport syndrome with Diffuse Leiomyomatosis				192	231					0	0	0	0	A	107430382	G	A	107430382	3	1	328	1	0	0	0	0	1	0	0	0	3725	1000	35	4	3269	4	COL4A6	23	107430382	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1550520	107430382	47840178	2669	60883											
COL4A5	1287	broad.mit.edu	37	chrX	107823795	107823795	+	Silent	SNP	T	T	G																															gaccgagggcctcctggaccTccagggatacgtggtcctcc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107823795T>G	ENST00000328300.6	+	14	1057	c.813T>G	c.(811-813)ccT>ccG	p.P271P	COL4A5_ENST00000361603.2_Silent_p.P271P	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	271	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTCCTGGACCTCCAGGGATAC	0.433									Alport syndrome with Diffuse Leiomyomatosis				46	85					0	0	0	0	G	107823795	T	G	107823795	2	3	328	1	0	0	0	0	0	0	0	1	3724	1538	54	5		5	COL4A5	23	107823795	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	393413	107823795	47446765	2670	60884	728	2									
COL4A5	1287	broad.mit.edu	37	chrX	107823796	107823796	+	Missense_Mutation	SNP	C	C	T																															accgagggcctcctggacctCcagggatacgtggtcctcca																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107823796C>T	ENST00000328300.6	+	14	1058	c.814C>T	c.(814-816)Cca>Tca	p.P272S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P272S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	272	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCTGGACCTCCAGGGATACG	0.428									Alport syndrome with Diffuse Leiomyomatosis				47	83					0	0	0	0	T	107823796	C	T	107823796	3	4	328	1	0	0	0	0	1	0	0	0	3724	855	30	2	868	2	COL4A5	23	107823796	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	107823796	47446764	2671	60885	728	2									
COL4A5	1287	broad.mit.edu	37	chrX	107834372	107834372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgaaggaccacctggaatttCcattcctggacctcctggac	9	10	9	13	0	0	1	0	1	0	0	3	5	3	5	6	4	0	0	6	4	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107834372C>T	ENST00000328300.6	+	20	1494	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F	COL4A5_ENST00000361603.2_Missense_Mutation_p.S417F	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	417	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTGGAATTTCCATTCCTGGA	0.557									Alport syndrome with Diffuse Leiomyomatosis				66	61					0	0	0	0	T	107834372	C	T	107834372	3	4	328	1	0	0	0	0	1	0	0	0	3724	855	30	2	1328	2	COL4A5	23	107834372	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	10576	107834372	47436188	2672	60886											
COL4A5	1287	broad.mit.edu	37	chrX	107920799	107920799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggagagaagggaaatcCaggccaacctgggctacctg	14	5	13	9	0	0	1	0	0	0	1	1	4	1	3	4	4	2	1	4	4	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107920799C>T	ENST00000328300.6	+	44	4122	c.3878C>T	c.(3877-3879)cCa>cTa	p.P1293L	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1287L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1287	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AAGGGAAATCCAGGCCAACCT	0.483									Alport syndrome with Diffuse Leiomyomatosis				41	44					0	0	0	0	T	107920799	C	T	107920799	3	4	328	1	0	0	0	0	1	0	0	0	3724	594	21	4	4037	4	COL4A5	23	107920799	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	86427	107920799	47349761	2673	60887											
IRS4	8471	broad.mit.edu	37	chrX	107977792	107977792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggatcctttcccacttcCtgagcctttgccccccccag	5	11	6	19	1	0	1	0	1	0	0	4	2	3	2	8	1	2	0	8	1	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107977792C>T	ENST00000372129.2	-	1	1859	c.1783G>A	c.(1783-1785)Gga>Aga	p.G595R		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	595						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTCCCACTTCCTGAGCCTTTG	0.537													107	195					0	0	0	0	T	107977792	C	T	107977792	3	4	328	1	0	0	0	0	1	0	0	0	7895	690	24	4	1994	4	IRS4	23	107977792	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	56993	107977792	47292768	2674	60888											
IRS4	8471	broad.mit.edu	37	chrX	107979238	107979238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggaacttcctggcattttCgtagtattccagccgagctg	7	12	10	12	3	0	0	0	0	0	0	3	2	2	1	4	2	3	4	4	2	3	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107979238C>T	ENST00000372129.2	-	1	413	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	113	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGGCATTTTCGTAGTATTCC	0.667													45	61					0	0	0	0	T	107979238	C	T	107979238	3	4	328	1	0	0	0	0	1	0	0	0	7895	893	31	1	3440	1	IRS4	23	107979238	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1446	107979238	47291322	2675	60889											
GUCY2F	2986	broad.mit.edu	37	chrX	108718439	108718439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggagaaagcactcactgcGaattctgtctgcctggtgaa	10	9	12	10	2	3	2	1	1	2	1	3	4	3	2	1	2	3	1	1	2	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:108718439G>A	ENST00000218006.2	-	2	1018	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	243					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CACTCACTGCGAATTCTGTCT	0.517											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	67					0	0	0	0	A	108718439	G	A	108718439	3	1	328	1	0	0	0	0	1	0	0	0	6948	1058	37	1	2671	1	GUCY2F	23	108718439	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	739201	108718439	46552121	2676	60890											
AMMECR1	9949	broad.mit.edu	37	chrX	109560968	109560968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaggacgaggcggcggacGatgaggagggtgaggaagag	12	3	22	4	4	0	4	0	3	0	1	0	10	0	8	0	7	0	0	0	7	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:109560968G>A	ENST00000262844.5	-	1	499	c.332C>T	c.(331-333)tCg>tTg	p.S111L	AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_Missense_Mutation_p.S111L|AMMECR1_ENST00000496695.1_5'UTR	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	111	Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGGCGGACGATGAGGAGGG	0.657													9	8					0	0	0	0	A	109560968	G	A	109560968	3	1	328	1	0	0	0	0	1	0	0	0	578	1059	37	1	693	1	AMMECR1	23	109560968	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	842529	109560968	45709592	2677	60891											
CAPN6	827	broad.mit.edu	37	chrX	110494250	110494250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacaccgattccagctcCtttcggccaaaaatagggtt	11	9	7	14	2	0	0	0	0	0	0	3	1	2	0	5	2	2	2	5	2	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:110494250C>T	ENST00000324068.1	-	8	1220	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	CAPN6_ENST00000541758.1_Silent_p.K96K	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	351	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ATTCCAGCTCCTTTCGGCCAA	0.502													215	230					0	0	0	0	T	110494250	C	T	110494250	2	4	328	1	0	0	0	0	0	0	0	1	2655	680	24	4		4	CAPN6	23	110494250	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	933282	110494250	44776310	2678	60892											
CAPN6	827	broad.mit.edu	37	chrX	110494328	110494328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaaaagtcctccaagctCatcctgaatggaaggagcac	13	6	10	12	1	1	1	1	1	0	0	4	3	4	3	3	3	2	3	3	3	5	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:110494328C>A	ENST00000324068.1	-	8	1142	c.975G>T	c.(973-975)atG>atT	p.M325I	CAPN6_ENST00000541758.1_Missense_Mutation_p.M70I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	325	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTCCAAGCTCATCCTGAATG	0.438													126	229					2.02856e-45	2.07769e-45	1	0	A	110494328	C	A	110494328	3	1	328	1	0	0	0	0	1	0	0	0	2655	826	29	2	974	2	CAPN6	23	110494328	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	78	110494328	44776232	2679	60893											
ALG13	79868	broad.mit.edu	37	chrX	110966071	110966071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggagacagtactatttgGgagacaagtgtcaggttagt	11	11	14	5	0	1	2	1	0	0	2	1	4	1	2	0	3	1	2	0	3	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:110966071G>A	ENST00000394780.3	+	13	1498	c.1486G>A	c.(1486-1488)Gga>Aga	p.G496R	ALG13_ENST00000251943.4_Missense_Mutation_p.G392R	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	496	Tudor.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						GTACTATTTGGGAGACAAGTG	0.328													7	15					0	0	0	0	A	110966071	G	A	110966071	3	1	328	1	0	0	0	0	1	0	0	0	515	1233	43	4	1678	4	ALG13	23	110966071	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	471743	110966071	44304489	2680	60894											
IL13RA2	3598	broad.mit.edu	37	chrX	114239801	114239801	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttacgcaaaagcagaccggTtacaaatataactaatatta	18	10	5	8	2	0	1	0	0	0	1	0	1	0	1	1	1	4	3	1	1	10	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:114239801T>C	ENST00000371936.1	-	10	1324	c.1075A>G	c.(1075-1077)Acc>Gcc	p.T359A	IL13RA2_ENST00000243213.1_Missense_Mutation_p.T359A			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	359						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AGCAGACCGGTTACAAATATA	0.353													48	53					0	0	0	0	C	114239801	T	C	114239801	3	2	328	1	0	0	0	0	1	0	0	0	7683	1725	60	5	75	5	IL13RA2	23	114239801	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	3273730	114239801	41030759	2681	60895											
KLHL13	90293	broad.mit.edu	37	chrX	117106771	117106771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccagatagcaggagagctCgttttccatttcaatggcat	10	13	9	9	1	1	2	1	0	0	2	4	3	3	2	2	2	2	4	2	2	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:117106771C>T	ENST00000262820.3	-	1	930	c.21G>A	c.(19-21)acG>acA	p.T7T	KLHL13_ENST00000541812.1_Intron|KLHL13_ENST00000540167.1_Intron|KLHL13_ENST00000371878.1_Intron|KLHL13_ENST00000545703.1_Intron|KLHL13_ENST00000469946.1_Intron|KLHL13_ENST00000371882.1_Intron|KLHL13_ENST00000539496.1_Intron	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	7					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGGAGAGCTCGTTTTCCATT	0.413													33	43					0	0	0	0	T	117106771	C	T	117106771	2	4	328	1	0	0	0	0	0	0	0	1	8421	871	31	1		1	KLHL13	23	117106771	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2866970	117106771	38163789	2682	60896											
DOCK11	139818	broad.mit.edu	37	chrX	117712611	117712611	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaattctgatccagtaaagGtaatttataaaggttgttga	16	14	8	3	0	1	2	0	2	1	0	2	2	2	2	1	2	0	4	1	2	8	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:117712611G>A	ENST00000276204.6	+	13	1586		c.e13+1		DOCK11_ENST00000498252.1_Splice_Site|DOCK11_ENST00000276202.7_Splice_Site			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11						blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCCAGTAAAGGTAATTTATAA	0.328													21	30					0	0	0	0	A	117712611	G	A	117712611	5	1	328	1	0	0	0	0	0	0	1	0	4722	1275	44	4	1563	4	DOCK11	23	117712611	Splice_Site	SNP	G	TCGA-CV-7568-01A-11D-2229-08	605840	117712611	37557949	2683	60897											
LONRF3	79836	broad.mit.edu	37	chrX	118124489	118124489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttaccacttgcatctttcGacgcatctgaccttgaatgc	8	14	7	12	2	2	2	0	2	2	0	3	3	2	2	2	0	3	3	2	0	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118124489G>A	ENST00000365713.2	+	4	1421	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	LONRF3_ENST00000371628.3_Missense_Mutation_p.D461N|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.D420N|LONRF3_ENST00000422289.2_Missense_Mutation_p.D205N			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	461					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.D461Y(1)|p.D420Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TGCATCTTTCGACGCATCTGA	0.493													58	56					0	0	0	0	A	118124489	G	A	118124489	3	1	328	1	0	0	0	0	1	0	0	0	8960	1058	37	1	1399	1	LONRF3	23	118124489	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	411878	118124489	37146071	2684	60898											
KIAA1210	57481	broad.mit.edu	37	chrX	118281446	118281446	+	Missense_Mutation	SNP	C	C	T																															tcagcctcactttcctgaatCctgttcttggagtaggagaa																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118281446C>T	ENST00000402510.2	-	2	399	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	134										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTCCTGAATCCTGTTCTTGG	0.502													20	26					0	0	0	0	T	118281446	C	T	118281446	3	4	328	1	0	0	0	0	1	0	0	0	8265	855	30	2	4781	2	KIAA1210	23	118281446	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	156957	118281446	36989114	2685	60899	729	2									
KIAA1210	57481	broad.mit.edu	37	chrX	118281447	118281447	+	Silent	SNP	C	C	T																															cagcctcactttcctgaatcCtgttcttggagtaggagaag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118281447C>T	ENST00000402510.2	-	2	398	c.399G>A	c.(397-399)caG>caA	p.Q133Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	133										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTCCTGAATCCTGTTCTTGGA	0.502													20	26					0	0	0	0	T	118281447	C	T	118281447	2	4	328	1	0	0	0	0	0	0	0	1	8265	680	24	4		4	KIAA1210	23	118281447	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	118281447	36989113	2686	60900	729	2									
SLC25A43	203427	broad.mit.edu	37	chrX	118585997	118585997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccctacctcccacacaGtggaggagtagatgtccatt	10	8	10	13	0	0	1	0	0	0	1	2	4	2	3	5	2	2	1	5	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118585997G>A	ENST00000217909.7	+	4	1060	c.716G>A	c.(715-717)aGt>aAt	p.S239N	SLC25A43_ENST00000336249.7_Silent_p.Q181Q|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	239					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						CTCCCACACAGTGGAGGAGTA	0.532													49	96					0	0	0	0	A	118585997	G	A	118585997	3	1	328	1	0	0	0	0	1	0	0	0	14596	1029	36	4	730	4	SLC25A43	23	118585997	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	304550	118585997	36684563	2687	60901											
NKRF	55922	broad.mit.edu	37	chrX	118723541	118723541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaaatctgtgtggctctcgGagcgggcgtagtttctgatg	6	13	14	8	3	4	1	1	1	3	0	5	2	4	2	0	3	1	3	0	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118723541G>A	ENST00000371527.1	-	2	2499	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	NKRF_ENST00000304449.5_Missense_Mutation_p.S616F|NKRF_ENST00000542113.1_Missense_Mutation_p.S631F|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	616	R3H.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GTGGCTCTCGGAGCGGGCGTA	0.443													60	96					0	0	0	0	A	118723541	G	A	118723541	3	1	328	1	0	0	0	0	1	0	0	0	10517	1174	41	2	229	2	NKRF	23	118723541	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	137544	118723541	36547019	2688	60902											
RPL39	6170	broad.mit.edu	37	chrX	118920696	118920696	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccttttggagttgtacCtacacagaaaaaaatgtcaa	14	12	7	8	0	2	1	1	0	1	1	3	2	2	2	2	1	2	2	2	1	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118920696C>T	ENST00000361575.3	-	3	174		c.e3-1		RPL39_ENST00000468844.1_Splice_Site	NM_001000.2	NP_000991.1	P62891	RL39_HUMAN	ribosomal protein L39						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						GGAGTTGTACCTACACAGAAA	0.408													54	66					0	0	0	0	T	118920696	C	T	118920696	5	4	328	1	0	0	0	0	0	0	1	0	13677	695	24	4	52	4	RPL39	23	118920696	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	197155	118920696	36349864	2689	60903											
UPF3B	65109	broad.mit.edu	37	chrX	118971739	118971739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgtttcttattcgatctCtcttgaccacttcttctttc	4	21	3	13	1	5	1	0	1	5	0	8	2	5	1	2	0	0	1	2	0	1	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118971739C>T	ENST00000276201.2	-	10	1352	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K	UPF3B_ENST00000345865.2_Missense_Mutation_p.R415K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	428	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TATTCGATCTCTCTTGACCAC	0.378													35	84					0	0	0	0	T	118971739	C	T	118971739	3	4	328	1	0	0	0	0	1	0	0	0	17102	913	32	2	176	2	UPF3B	23	118971739	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	51043	118971739	36298821	2690	60904											
RHOXF2	84528	broad.mit.edu	37	chrX	119293316	119293316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttccaacgcgagcagttcCccagtgagttcctgcggtaa	8	11	10	12	3	0	1	0	1	0	0	3	2	3	1	4	1	3	4	4	1	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:119293316C>T	ENST00000371388.3	+	2	665	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	159						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						CGAGCAGTTCCCCAGTGAGTT	0.652													15	19					0	0	0	0	T	119293316	C	T	119293316	3	4	328	1	0	0	0	0	1	0	0	0	13431	623	22	4	1364	4	RHOXF2	23	119293316	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	321577	119293316	35977244	2691	60905											
CT47B1	643311	broad.mit.edu	37	chrX	120008876	120008876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcggcctcctccgcgggctCcctggccatctcggccaggt	2	8	13	18	4	1	0	0	0	1	0	5	0	4	0	6	5	1	1	6	5	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:120008876C>T	ENST00000371311.3	-	1	903	c.649G>A	c.(649-651)Gag>Aag	p.E217K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	217										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCCGCGGGCTCCCTGGCCATC	0.697													59	90					0	0	0	0	T	120008876	C	T	120008876	3	4	328	1	0	0	0	0	1	0	0	0	4021	864	30	2	258	2	CT47B1	23	120008876	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	715560	120008876	35261684	2692	60906											
CT47B1	643311	broad.mit.edu	37	chrX	120008973	120008973	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcaggccgaggccctcGccttctggggctgcagcccc	4	7	14	16	2	2	0	1	0	1	0	3	2	2	1	5	5	2	2	5	5	0	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:120008973G>A	ENST00000371311.3	-	1	806	c.552C>T	c.(550-552)ggC>ggT	p.G184G		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	184										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CGAGGCCCTCGCCTTCTGGGG	0.706													38	43					0	0	0	0	A	120008973	G	A	120008973	2	1	328	1	0	0	0	0	0	0	0	1	4021	1074	38	1		1	CT47B1	23	120008973	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	97	120008973	35261587	2693	60907											
GLUD2	2747	broad.mit.edu	37	chrX	120182995	120182995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagcatggtggaactattcCcattgtacccacggcagagt	12	9	10	10	1	0	1	0	0	0	1	1	2	1	2	2	3	3	3	2	3	4	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:120182995C>T	ENST00000328078.1	+	1	1534	c.1457C>T	c.(1456-1458)cCc>cTc	p.P486L		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	486					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GGAACTATTCCCATTGTACCC	0.448													56	85					0	0	0	0	T	120182995	C	T	120182995	3	4	328	1	0	0	0	0	1	0	0	0	6528	623	22	4	1459	4	GLUD2	23	120182995	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	174022	120182995	35087565	2694	60908											
GRIA3	2892	broad.mit.edu	37	chrX	122551587	122551587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atttaacagtctttggttttCcttgggtgcctttatgcagc	6	18	9	8	0	1	0	0	0	1	0	2	0	2	0	2	2	4	2	2	2	2	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:122551587C>T	ENST00000264357.5	+	11	2127	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F	GRIA3_ENST00000371251.1_Missense_Mutation_p.S612F|GRIA3_ENST00000542149.1_Missense_Mutation_p.S612F|GRIA3_ENST00000541091.1_Missense_Mutation_p.S596F|GRIA3_ENST00000371256.5_Missense_Mutation_p.S612F	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	612					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CTTTGGTTTTCCTTGGGTGCC	0.398													82	91					0	0	0	0	T	122551587	C	T	122551587	3	4	328	1	0	0	0	0	1	0	0	0	6819	855	30	2	1877	2	GRIA3	23	122551587	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2368592	122551587	32718973	2695	60909											
THOC2	57187	broad.mit.edu	37	chrX	122755258	122755258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttctctttgtcagacttCggcgttctttccttggtctc	2	20	7	12	2	5	1	1	0	4	1	9	1	6	1	1	2	0	1	1	2	0	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:122755258C>T	ENST00000245838.8	-	31	3997	c.3966G>A	c.(3964-3966)ccG>ccA	p.P1322P	THOC2_ENST00000355725.4_Silent_p.P1322P|THOC2_ENST00000491737.1_Silent_p.P1207P	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1322	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGTCAGACTTCGGCGTTCTTT	0.403													64	85					0	0	0	0	T	122755258	C	T	122755258	2	4	328	1	0	0	0	0	0	0	0	1	15959	871	31	1		1	THOC2	23	122755258	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	203671	122755258	32515302	2696	60910											
STAG2	10735	broad.mit.edu	37	chrX	123217344	123217344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctttaaatttggcatttCttgatattctgagtgaattt	10	19	6	6	0	2	3	0	3	2	0	2	3	2	3	1	1	0	1	1	1	4	8			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:123217344C>T	ENST00000371160.1	+	29	3288	c.2998C>T	c.(2998-3000)Ctt>Ttt	p.L1000F	STAG2_ENST00000371157.3_Missense_Mutation_p.L1000F|STAG2_ENST00000218089.9_Missense_Mutation_p.L1000F|STAG2_ENST00000354548.5_Missense_Mutation_p.L931F|STAG2_ENST00000371144.3_Missense_Mutation_p.L1000F|STAG2_ENST00000371145.3_Missense_Mutation_p.L1000F|STAG2_ENST00000469481.1_Intron			Q8N3U4	STAG2_HUMAN	stromal antigen 2	1000					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTTGGCATTTCTTGATATTCT	0.338													39	58					0	0	0	0	T	123217344	C	T	123217344	3	4	328	1	0	0	0	0	1	0	0	0	15333	913	32	2	3104	2	STAG2	23	123217344	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	462086	123217344	32053216	2697	60911											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685766	125685766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaggacaccgctcccagttCctggttcttgccgccgcagg	6	8	11	16	3	1	0	0	0	1	0	3	1	3	1	5	3	1	4	5	3	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:125685766C>T	ENST00000371126.1	-	1	1068	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	276										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCTCCCAGTTCCTGGTTCTTG	0.637													39	51					0	0	0	0	T	125685766	C	T	125685766	3	4	328	1	0	0	0	0	1	0	0	0	4297	864	30	2	569	2	DCAF12L1	23	125685766	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2468422	125685766	29584794	2698	60912											
ACTRT1	139741	broad.mit.edu	37	chrX	127185186	127185186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcagagaagcatctatcagGagaagctgtgatcttgatgg	12	10	13	6	0	3	4	1	2	2	2	3	6	3	4	0	2	3	3	0	2	3	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:127185186G>A	ENST00000371124.3	-	1	1196	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	334						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CATCTATCAGGAGAAGCTGTG	0.532													39	59					0	0	0	0	A	127185186	G	A	127185186	3	1	328	1	0	0	0	0	1	0	0	0	218	1174	41	2	134	2	ACTRT1	23	127185186	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1499420	127185186	28085374	2699	60913											
SMARCA1	6594	broad.mit.edu	37	chrX	128602775	128602775	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tactccatgacctcctcaggGgatttgccctctacctctcg	6	12	7	16	1	3	1	1	1	2	0	6	2	5	2	5	2	3	0	5	2	2	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:128602775G>A	ENST00000371122.4	-	21	2802	c.2673C>T	c.(2671-2673)tcC>tcT	p.S891S	SMARCA1_ENST00000371123.1_Silent_p.S879S|SMARCA1_ENST00000371121.3_Silent_p.S879S	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	891	SANT 1.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CCTCCTCAGGGGATTTGCCCT	0.333													59	52					0	0	0	0	A	128602775	G	A	128602775	2	1	328	1	0	0	0	0	0	0	0	1	14856	1219	43	4		4	SMARCA1	23	128602775	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1417589	128602775	26667785	2700	60914											
UTP14A	10813	broad.mit.edu	37	chrX	129063382	129063382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catccagacccccataggatCcacatggaacacccagaggg	13	4	9	15	0	0	2	0	0	0	2	2	4	2	4	5	3	1	0	5	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:129063382C>T	ENST00000394422.3	+	15	2142	c.2114C>T	c.(2113-2115)tCc>tTc	p.S705F	UTP14A_ENST00000371051.5_Missense_Mutation_p.S651F|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.S653F|UTP14A_ENST00000371042.3_Missense_Mutation_p.S537F	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	705					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CCCATAGGATCCACATGGAAC	0.488													50	99					0	0	0	0	T	129063382	C	T	129063382	3	4	328	1	0	0	0	0	1	0	0	0	17191	855	30	2	2172	2	UTP14A	23	129063382	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	460607	129063382	26207178	2701	60915											
BCORL1	63035	broad.mit.edu	37	chrX	129171506	129171506	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagtgcgcaggacggcacGaggcaagagggctgcatctc	9	5	16	11	3	1	1	0	0	1	1	2	3	1	2	0	4	3	6	0	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:129171506G>A	ENST00000540052.1	+	8	4514	c.4470G>A	c.(4468-4470)acG>acA	p.T1490T	BCORL1_ENST00000218147.7_Silent_p.T1490T|BCORL1_ENST00000303743.5_Silent_p.T1564T|BCORL1_ENST00000359304.2_Silent_p.T1360T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1490					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGGACGGCACGAGGCAAGAGG	0.647													33	63					0	0	0	0	A	129171506	G	A	129171506	2	1	328	1	0	0	0	0	0	0	0	1	1391	1045	37	1		1	BCORL1	23	129171506	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	108124	129171506	26099054	2702	60916											
ENOX2	10495	broad.mit.edu	37	chrX	129813718	129813718	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctcgggttgcaggaggtggGagatctaagttgtaagggca	9	10	17	5	1	2	1	0	0	2	1	3	3	2	2	0	5	1	5	0	5	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:129813718G>A	ENST00000338144.3	-	7	762	c.345C>T	c.(343-345)ctC>ctT	p.L115L	ENOX2_ENST00000370927.1_Silent_p.L115L|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000394363.1_Silent_p.L86L|ENOX2_ENST00000370935.1_Silent_p.L86L	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	115	Pro-rich.				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CAGGAGGTGGGAGATCTAAGT	0.428													28	57					0	0	0	0	A	129813718	G	A	129813718	2	1	328	1	0	0	0	0	0	0	0	1	5165	1161	41	2		2	ENOX2	23	129813718	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	642212	129813718	25456842	2703	60917											
CCDC160	347475	broad.mit.edu	37	chrX	133378999	133378999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtccagtagaaagtttcagGaagaaagtaaatttaagagg	17	10	11	3	0	1	3	1	0	0	3	2	4	2	4	1	2	0	3	1	2	7	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:133378999G>A	ENST00000517294.1	+	3	552	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	CCDC160_ENST00000370809.4_Missense_Mutation_p.E57K			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	57										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AAAGTTTCAGGAAGAAAGTAA	0.313													11	9					0	0	0	0	A	133378999	G	A	133378999	3	1	328	1	0	0	0	0	1	0	0	0	2818	1175	41	2	171	2	CCDC160	23	133378999	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3565281	133378999	21891561	2704	60918											
FAM127A	8933	broad.mit.edu	37	chrX	134166728	134166728	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagatgaagcgagtcttTggatgggaggaggacgagga	11	6	19	5	3	1	2	0	1	1	1	1	10	1	7	1	5	1	0	1	5	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:134166728T>C	ENST00000257013.7	+	1	396	c.315T>C	c.(313-315)ttT>ttC	p.F105F	FAM127A_ENST00000464369.1_Intron	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	105										endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					AGCGAGTCTTTGGATGGGAGG	0.652													25	37					0	0	0	0	C	134166728	T	C	134166728	2	2	328	1	0	0	0	0	0	0	0	1	5472	1809	63	5		5	FAM127A	23	134166728	Silent	SNP	T	TCGA-CV-7568-01A-11D-2229-08	787729	134166728	21103832	2705	60919											
ZNF75D	7626	broad.mit.edu	37	chrX	134421321	134421321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgttatgactaaagcttttCccacaccatgagcatctata	12	13	6	10	0	1	2	0	2	1	0	2	2	2	2	2	0	2	3	2	0	5	6			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:134421321C>T	ENST00000370766.3	-	7	3990	c.1281G>A	c.(1279-1281)ggG>ggA	p.G427G	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Silent_p.G332G	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	427					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TAAAGCTTTTCCCACACCATG	0.373													77	109					0	0	0	0	T	134421321	C	T	134421321	2	4	328	1	0	0	0	0	0	0	0	1	18228	842	30	2		2	ZNF75D	23	134421321	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	254593	134421321	20849239	2706	60920											
MAP7D3	79649	broad.mit.edu	37	chrX	135323338	135323338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagttttgctctcagaattCgccattgcagagcctcccca	8	11	7	15	1	1	2	1	0	1	2	4	2	2	2	5	0	3	3	5	0	1	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:135323338C>T	ENST00000316077.9	-	5	736	c.516G>A	c.(514-516)gcG>gcA	p.A172A	MAP7D3_ENST00000370661.1_Silent_p.A172A|MAP7D3_ENST00000370663.5_Silent_p.A154A	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	172						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCTCAGAATTCGCCATTGCAG	0.358													45	37					0	0	0	0	T	135323338	C	T	135323338	2	4	328	1	0	0	0	0	0	0	0	1	9338	871	31	1		1	MAP7D3	23	135323338	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	902017	135323338	19947222	2707	60921											
ATP11C	286410	broad.mit.edu	37	chrX	138819939	138819939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atactttttatgcagaagagGaaattaagtgatgaacctgt	15	13	9	4	0	0	4	0	2	0	2	0	5	0	5	1	1	3	1	1	1	6	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:138819939G>A	ENST00000359686.2	-	29	3412	c.3314C>T	c.(3313-3315)tCc>tTc	p.S1105F	ATP11C_ENST00000460773.1_Intron|ATP11C_ENST00000370543.1_Intron|ATP11C_ENST00000327569.3_Intron|ATP11C_ENST00000361648.2_Intron|ATP11C_ENST00000370557.1_Intron			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	0					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGCAGAAGAGGAAATTAAGTG	0.373													4	10					0	0	0	0	A	138819939	G	A	138819939	3	1	328	1	0	0	0	0	1	0	0	0	1125	1189	41	2		2	ATP11C	23	138819939	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3496601	138819939	16450621	2708	60922											
ATP11C	286410	broad.mit.edu	37	chrX	138825761	138825761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agactgtaaaaacaatggttCcaaaagtccagtttccgtat	15	11	7	8	1	0	1	0	0	0	1	3	1	3	1	3	1	1	4	3	1	7	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:138825761C>T	ENST00000370557.1	-	26	4005	c.2978G>A	c.(2977-2979)gGa>gAa	p.G993E	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.G999E|ATP11C_ENST00000359686.2_Missense_Mutation_p.G999E|ATP11C_ENST00000327569.3_Missense_Mutation_p.G999E|ATP11C_ENST00000361648.2_Missense_Mutation_p.G999E			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	999					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AACAATGGTTCCAAAAGTCCA	0.254													7	19					0	0	0	0	T	138825761	C	T	138825761	3	4	328	1	0	0	0	0	1	0	0	0	1125	855	30	2	485	2	ATP11C	23	138825761	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	5822	138825761	16444799	2709	60923											
MAGEC3	139081	broad.mit.edu	37	chrX	140969434	140969434	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatttctatgtctttgtaaAcacattagacctcacctgtg	10	15	5	11	0	3	1	1	0	2	1	3	1	3	1	3	0	1	1	3	0	4	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:140969434A>G	ENST00000298296.1	+	4	761	c.761A>G	c.(760-762)aAc>aGc	p.N254S	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	254	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTTTGTAAACACATTAGAC	0.468													77	143					0	0	0	0	G	140969434	A	G	140969434	3	3	328	1	0	0	0	0	1	0	0	0	9251	43	2	5	775	5	MAGEC3	23	140969434	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	2143673	140969434	14301126	2710	60924											
MAGEC1	9947	broad.mit.edu	37	chrX	140996585	140996585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgccacagaaagtgcaagctCcagtgtcatgtcccccagct	10	8	9	14	0	1	1	1	0	0	1	3	1	3	1	4	0	4	3	4	0	2	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:140996585C>T	ENST00000285879.4	+	4	3681	c.3395C>T	c.(3394-3396)tCc>tTc	p.S1132F	MAGEC1_ENST00000406005.2_Missense_Mutation_p.S199F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1132							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGCAAGCTCCAGTGTCATG	0.507										HNSCC(15;0.026)			37	51					0	0	0	0	T	140996585	C	T	140996585	3	4	328	1	0	0	0	0	1	0	0	0	9249	855	30	2	3401	2	MAGEC1	23	140996585	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	27151	140996585	14273975	2711	60925											
SPANXN3	139067	broad.mit.edu	37	chrX	142605181	142605181	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggattcacaggggctcttCgtcttctccccattggtgct	4	15	10	12	1	4	0	1	0	3	0	6	1	4	1	2	4	1	2	2	4	0	5	rs148202641		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:142605181C>T	ENST00000370503.2	-	1	122	c.39G>A	c.(37-39)acG>acA	p.T13T		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	13										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGCTCTTCGTCTTCTCCC	0.458													94	114					0	0	0	0	T	142605181	C	T	142605181	2	4	328	1	0	0	0	0	0	0	0	1	15082	871	31	1		1	SPANXN3	23	142605181	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1608596	142605181	12665379	2712	60926											
SLITRK4	139065	broad.mit.edu	37	chrX	142716803	142716803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatctgaaaacatgaaccCagtttctgactctttcaagc	13	11	7	10	0	4	3	1	3	3	0	4	4	4	4	1	1	3	1	1	1	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:142716803C>T	ENST00000381779.4	-	2	2347	c.2122G>A	c.(2122-2124)Ggg>Agg	p.G708R	SLITRK4_ENST00000338017.4_Missense_Mutation_p.G708R|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G708R	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	708						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)					AACATGAACCCAGTTTCTGAC	0.408													48	124					0	0	0	0	T	142716803	C	T	142716803	3	4	328	1	0	0	0	0	1	0	0	0	14833	594	21	4	395	4	SLITRK4	23	142716803	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	111622	142716803	12553757	2713	60927											
SLITRK4	139065	broad.mit.edu	37	chrX	142718348	142718348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaccccgatataagggaGcttctggattctgttccctc	9	11	9	12	1	2	1	0	0	2	1	4	4	3	3	3	2	2	2	3	2	3	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:142718348G>A	ENST00000381779.4	-	2	802	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	SLITRK4_ENST00000338017.4_Missense_Mutation_p.L193F|SLITRK4_ENST00000356928.1_Missense_Mutation_p.L193F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	193						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)					ATATAAGGGAGCTTCTGGATT	0.418													47	71					0	0	0	0	A	142718348	G	A	142718348	3	1	328	1	0	0	0	0	1	0	0	0	14833	971	34	4	1940	4	SLITRK4	23	142718348	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1545	142718348	12552212	2714	60928											
SLITRK2	84631	broad.mit.edu	37	chrX	144905934	144905934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caacaacttagacgtaagctCctttcaattacagtatgggt	13	12	7	9	1	1	1	1	0	0	1	2	1	2	1	1	1	4	3	1	1	7	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:144905934C>T	ENST00000370490.1	+	1	6246	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	SLITRK2_ENST00000447897.2_Missense_Mutation_p.S664F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S664F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S664F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S664F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	664						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GACGTAAGCTCCTTTCAATTA	0.468													62	73					0	0	0	0	T	144905934	C	T	144905934	3	4	328	1	0	0	0	0	1	0	0	0	14831	855	30	2	1993	2	SLITRK2	23	144905934	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2187586	144905934	10364626	2715	60929											
FMR1NB	158521	broad.mit.edu	37	chrX	147063088	147063088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctgacaggcctcagccaGgatggcgggaatctctaaag	10	7	14	10	1	2	1	1	1	1	0	3	3	2	3	2	5	1	1	2	5	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:147063088G>A	ENST00000370467.3	+	1	240	c.166G>A	c.(166-168)Gga>Aga	p.G56R		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	56						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCAGCCAGGATGGCGGGA	0.547													39	63					0	0	0	0	A	147063088	G	A	147063088	3	1	328	1	0	0	0	0	1	0	0	0	6006	1001	35	4	168	4	FMR1NB	23	147063088	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	2157154	147063088	8207472	2716	60930											
FMR1NB	158521	broad.mit.edu	37	chrX	147106430	147106430	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggacaacagagttgtaacGggtttgaagaaacaaagaag	18	6	12	5	1	0	4	0	1	0	3	0	5	0	5	0	2	3	3	0	2	6	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:147106430G>A	ENST00000370467.3	+	5	752	c.678G>A	c.(676-678)acG>acA	p.T226T		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	226						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTTGTAACGGGTTTGAAGA	0.413													30	81					0	0	0	0	A	147106430	G	A	147106430	2	1	328	1	0	0	0	0	0	0	0	1	6006	1103	39	1		1	FMR1NB	23	147106430	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	43342	147106430	8164130	2717	60931											
AFF2	2334	broad.mit.edu	37	chrX	147744217	147744217	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctgtcatttggaacactCttggatggaaaacccagtgc	12	11	9	9	0	3	0	1	0	2	0	3	3	3	3	1	3	3	0	1	3	4	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:147744217C>T	ENST00000370460.2	+	3	1448	c.969C>T	c.(967-969)ctC>ctT	p.L323L	AFF2_ENST00000370458.1_Silent_p.L319L|AFF2_ENST00000370457.5_Silent_p.L319L|AFF2_ENST00000342251.3_Silent_p.L319L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	323					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGAACACTCTTGGATGGAA	0.433													55	50					0	0	0	0	T	147744217	C	T	147744217	2	4	328	1	0	0	0	0	0	0	0	1	357	900	32	2		2	AFF2	23	147744217	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	637787	147744217	7526343	2718	60932											
IDS	3423	broad.mit.edu	37	chrX	148568458	148568458	+	Missense_Mutation	SNP	G	G	A																															tttcagcatattttatacctGgctccatcaactgtgaggcg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:148568458G>A	ENST00000340855.6	-	8	1387	c.1178C>T	c.(1177-1179)cCa>cTa	p.P393L	IDS_ENST00000541269.1_Missense_Mutation_p.P182L|IDS_ENST00000537071.1_Intron|AF011889.5_ENST00000422081.1_RNA	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	393						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTTTATACCTGGCTCCATCAA	0.433													29	40					0	0	0	0	A	148568458	G	A	148568458	3	1	328	1	0	0	0	0	1	0	0	0	7556	1348	47	4	482	4	IDS	23	148568458	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	824241	148568458	6702102	2719	60933	730	2									
IDS	3423	broad.mit.edu	37	chrX	148568459	148568459	+	Missense_Mutation	SNP	G	G	A																															ttcagcatattttatacctgGctccatcaactgtgaggcgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:148568459G>A	ENST00000340855.6	-	8	1386	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S	IDS_ENST00000541269.1_Missense_Mutation_p.P182S|IDS_ENST00000537071.1_Intron|AF011889.5_ENST00000422081.1_RNA	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	393						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTTATACCTGGCTCCATCAAC	0.433													30	40					0	0	0	0	A	148568459	G	A	148568459	3	1	328	1	0	0	0	0	1	0	0	0	7556	1203	42	4	483	4	IDS	23	148568459	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	148568459	6702101	2720	60934	730	2									
MAGEA11	4110	broad.mit.edu	37	chrX	148797757	148797757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcagccaagaaaaggaggGgccaagtacctcgcctgacc	12	4	13	12	1	0	2	0	1	0	1	1	3	0	3	5	4	2	2	5	4	5	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:148797757G>A	ENST00000355220.5	+	5	713	c.611G>A	c.(610-612)gGg>gAg	p.G204E	MAGEA11_ENST00000333104.4_Missense_Mutation_p.G175E	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	204						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GAAAAGGAGGGGCCAAGTACC	0.498													64	58					0	0	0	0	A	148797757	G	A	148797757	3	1	328	1	0	0	0	0	1	0	0	0	9230	1232	43	4	638	4	MAGEA11	23	148797757	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	229298	148797757	6472803	2721	60935											
GPR50	9248	broad.mit.edu	37	chrX	150345221	150345221	+	Missense_Mutation	SNP	C	C	T																															ccaccctagcggttcccaccCcctatggctgtattggctgt																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150345221C>T	ENST00000218316.3	+	1	97	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	10					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTCCCACCCCCTATGGCTG	0.552													46	70					0	0	0	0	T	150345221	C	T	150345221	3	4	328	1	0	0	0	0	1	0	0	0	6746	623	22	4	30	4	GPR50	23	150345221	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1547464	150345221	4925339	2722	60936	731	2									
GPR50	9248	broad.mit.edu	37	chrX	150345222	150345222	+	Missense_Mutation	SNP	C	C	T																															caccctagcggttcccacccCctatggctgtattggctgta																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150345222C>T	ENST00000218316.3	+	1	98	c.29C>T	c.(28-30)cCc>cTc	p.P10L	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	10					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GTTCCCACCCCCTATGGCTGT	0.547													46	71					0	0	0	0	T	150345222	C	T	150345222	3	4	328	1	0	0	0	0	1	0	0	0	6746	623	22	4	31	4	GPR50	23	150345222	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	150345222	4925338	2723	60937	731	2									
PASD1	139135	broad.mit.edu	37	chrX	150773139	150773139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagtcaatccaaaaagctCtcaaaggaaattaaactgga	20	7	6	8	0	2	0	2	0	1	0	4	2	3	2	1	2	2	1	1	2	8	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150773139C>T	ENST00000370357.4	+	3	295	c.50C>T	c.(49-51)tCt>tTt	p.S17F		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	17						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAAAGCTCTCAAAGGAAA	0.328													14	8					0	0	0	0	T	150773139	C	T	150773139	3	4	328	1	0	0	0	0	1	0	0	0	11542	913	32	2	56	2	PASD1	23	150773139	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	427917	150773139	4497421	2724	60938											
PASD1	139135	broad.mit.edu	37	chrX	150832782	150832782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggatccagtggatccagagGactcagtggacctgggggct	8	8	16	9	0	1	1	1	0	0	1	3	5	3	5	3	6	0	1	3	6	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150832782G>A	ENST00000370357.4	+	11	1278	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	345						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGATCCAGAGGACTCAGTGGA	0.592													39	37					0	0	0	0	A	150832782	G	A	150832782	3	1	328	1	0	0	0	0	1	0	0	0	11542	1174	41	2	1071	2	PASD1	23	150832782	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	59643	150832782	4437778	2725	60939											
PRRG3	79057	broad.mit.edu	37	chrX	150869341	150869341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagagagcaccctctacctcCctgagctctctctctccaga	8	10	6	17	0	3	3	0	1	3	2	7	4	5	3	4	0	3	2	4	0	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150869341C>T	ENST00000370353.3	+	4	922	c.532C>T	c.(532-534)Cct>Tct	p.P178S	PRRG3_ENST00000538575.1_Missense_Mutation_p.P178S			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	178						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTACCTCCCTGAGCTCTC	0.677													20	46					0	0	0	0	T	150869341	C	T	150869341	3	4	328	1	0	0	0	0	1	0	0	0	12686	623	22	4	542	4	PRRG3	23	150869341	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	36559	150869341	4401219	2726	60940											
CNGA2	1260	broad.mit.edu	37	chrX	150908082	150908082	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaatgggccaacaagaatttCcgagaggaggaacctaggcc	14	5	13	9	1	0	2	0	0	0	2	1	6	1	4	4	4	2	0	4	4	6	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150908082C>T	ENST00000329903.4	+	3	285	c.252C>T	c.(250-252)ttC>ttT	p.F84F		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	84					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACAAGAATTTCCGAGAGGAGG	0.532													26	38					0	0	0	0	T	150908082	C	T	150908082	2	4	328	1	0	0	0	0	0	0	0	1	3627	854	30	2		2	CNGA2	23	150908082	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	38741	150908082	4362478	2727	60941											
MAGEA4	4103	broad.mit.edu	37	chrX	151092751	151092751	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagacaggccttctgataatCgtcctgggcacaattgcaat	12	10	9	10	1	1	2	0	1	1	1	3	2	2	2	2	2	1	2	2	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:151092751C>T	ENST00000360243.2	+	3	882	c.615C>T	c.(613-615)atC>atT	p.I205I	MAGEA4_ENST00000370337.4_Silent_p.I205I|MAGEA4_ENST00000370335.1_Silent_p.I205I|MAGEA4_ENST00000393921.1_Silent_p.I205I|MAGEA4_ENST00000393920.1_Silent_p.I205I|MAGEA4_ENST00000276344.2_Silent_p.I205I|MAGEA4_ENST00000370340.3_Silent_p.I205I	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	205	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGATAATCGTCCTGGGCA	0.562													108	105					0	0	0	0	T	151092751	C	T	151092751	2	4	328	1	0	0	0	0	0	0	0	1	9235	874	31	1		1	MAGEA4	23	151092751	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	184669	151092751	4177809	2728	60942											
MAGEA5	4104	broad.mit.edu	37	chrX	151283787	151283787	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcctccatagagtgaaatCgatggcagtggggatggcgg	9	9	16	7	2	0	2	0	1	0	1	2	4	1	3	2	5	1	1	2	5	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:151283787C>T	ENST00000509345.2	-	0	549																		p.D76N(1)									AGAGTGAAATCGATGGCAGTG	0.612													45	90					0	0	0	0	T	151283787	C	T	151283787	1	4	328	0	1	0	0	0	0	0	0	0	9236	884	31	1		1	MAGEA5	23	151283787	RNA	SNP	C	TCGA-CV-7568-01A-11D-2229-08	191036	151283787	3986773	2729	60943											
GABRA3	2556	broad.mit.edu	37	chrX	151358325	151358325	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcataacagacggctatgaaCcagtccatggccgtcgcata	12	7	10	12	3	0	2	0	1	0	1	2	2	1	2	3	2	2	3	3	2	4	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:151358325C>G	ENST00000370314.4	-	9	1258	c.1020G>C	c.(1018-1020)tgG>tgC	p.W340C	GABRA3_ENST00000370311.1_Missense_Mutation_p.W340C|GABRA3_ENST00000535043.1_Missense_Mutation_p.W340C|GABRA3_ENST00000497894.1_5'UTR	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	340					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGGCTATGAACCAGTCCATGG	0.483													51	43					0	0	0	0	G	151358325	C	G	151358325	3	3	328	1	0	0	0	0	1	0	0	0	6210	508	18	4	466	4	GABRA3	23	151358325	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	74538	151358325	3912235	2730	60944											
ZNF185	7739	broad.mit.edu	37	chrX	152113854	152113854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtggccaccagggtcGgagaggcctggcaggagagg	9	4	20	8	1	0	2	0	0	0	2	1	5	0	3	3	8	0	1	3	8	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152113854G>A	ENST00000535861.1	+	17	1396	c.1348G>A	c.(1348-1350)Gga>Aga	p.G450R	ZNF185_ENST00000318504.7_Missense_Mutation_p.G359R|ZNF185_ENST00000370268.4_Missense_Mutation_p.G418R|ZNF185_ENST00000449285.2_Missense_Mutation_p.G419R|ZNF185_ENST00000539731.1_Missense_Mutation_p.G421R|ZNF185_ENST00000324823.6_Missense_Mutation_p.G186R|ZNF185_ENST00000318529.8_Missense_Mutation_p.G197R|ZNF185_ENST00000370270.1_Missense_Mutation_p.G181R	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	418						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAGGGTCGGAGAGGCCTG	0.582													5	11					0	0	0	0	A	152113854	G	A	152113854	3	1	328	1	0	0	0	0	1	0	0	0	17847	1117	39	1	1558	1	ZNF185	23	152113854	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	755529	152113854	3156706	2731	60945											
PNMA5	114824	broad.mit.edu	37	chrX	152159281	152159281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctaagagatgtttcagacGaatcatgtctgtgctgcgca	11	11	11	8	2	3	2	2	0	1	2	3	4	3	2	0	0	3	4	0	0	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152159281G>A	ENST00000439251.1	-	2	1300	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	PNMA5_ENST00000452693.1_Missense_Mutation_p.R288C|PNMA5_ENST00000361887.5_Missense_Mutation_p.R288C|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288C	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	288					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTTCAGACGAATCATGTCT	0.567													55	69					0	0	0	0	A	152159281	G	A	152159281	3	1	328	1	0	0	0	0	1	0	0	0	12228	1058	37	1	488	1	PNMA5	23	152159281	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	45427	152159281	3111279	2732	60946											
HAUS7	55559	broad.mit.edu	37	chrX	152722630	152722630	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacccaatggtcaggctccgGatggtatcgagcaactggtc	9	8	12	12	2	1	0	1	0	0	0	4	2	2	1	2	5	2	3	2	5	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152722630G>A	ENST00000421080.2	-	7	1190	c.24C>T	c.(22-24)atC>atT	p.I8I	HAUS7_ENST00000370211.4_Silent_p.I137I|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000370212.3_Silent_p.I147I|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370219.3_Silent_p.I147I			Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	147					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TCAGGCTCCGGATGGTATCGA	0.572													26	38					0	0	0	0	A	152722630	G	A	152722630	2	1	328	1	0	0	0	0	0	0	0	1	7021	1164	41	2		2	HAUS7	23	152722630	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	563349	152722630	2547930	2733	60947											
BGN	633	broad.mit.edu	37	chrX	152772638	152772638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccagacctcaagctcCtccaggtgagagctgggcat	8	7	12	14	0	1	2	1	1	0	2	4	3	4	2	4	3	2	4	4	3	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152772638C>T	ENST00000331595.4	+	7	1090	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F	BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Missense_Mutation_p.L241F	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	302						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAAGCTCCTCCAGGTGAG	0.662													19	12					0	0	0	0	T	152772638	C	T	152772638	3	4	328	1	0	0	0	0	1	0	0	0	1423	681	24	4	926	4	BGN	23	152772638	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	50008	152772638	2497922	2734	60948											
ATP2B3	492	broad.mit.edu	37	chrX	152830499	152830499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaagagatcgaccatgccGagcgggagctccgcaggggc	10	3	17	11	4	0	1	0	0	0	1	2	6	1	3	3	4	3	2	3	4	1	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152830499G>A	ENST00000370186.1	+	19	3564	c.3238G>A	c.(3238-3240)Gag>Aag	p.E1080K	ATP2B3_ENST00000263519.4_Missense_Mutation_p.E1094K|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E1094K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E1094K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E1080K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E1080K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1094					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.E1094Q(3)|p.E1080Q(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGACCATGCCGAGCGGGAGCT	0.672													8	10					0	0	0	0	A	152830499	G	A	152830499	3	1	328	1	0	0	0	0	1	0	0	0	1145	1059	37	1	3354	1	ATP2B3	23	152830499	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	57861	152830499	2440061	2735	60949											
PNCK	139728	broad.mit.edu	37	chrX	152936862	152936862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacaggcacacacgcagcCatgccgctcagtgtcactgg	9	5	11	16	3	2	0	2	0	0	0	2	0	2	0	2	2	2	4	2	2	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152936862C>T	ENST00000393831.2	-	7	995	c.561G>A	c.(559-561)atG>atA	p.M187I	PNCK_ENST00000370145.4_Intron|PNCK_ENST00000370150.1_Intron|PNCK_ENST00000370142.1_Missense_Mutation_p.M187I|PNCK_ENST00000447676.2_Intron|PNCK_ENST00000340888.3_Intron	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	179	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACACGCAGCCATGCCGCTCA	0.642													34	59					0	0	0	0	T	152936862	C	T	152936862	3	4	328	1	0	0	0	0	1	0	0	0	12217	609	21	4		4	PNCK	23	152936862	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	106363	152936862	2333698	2736	60950											
PNCK	139728	broad.mit.edu	37	chrX	152938046	152938046	+	Missense_Mutation	SNP	C	C	T																															gagcactgcgatctcgttctCcaccagggcctccttgcccc																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152938046C>T	ENST00000393831.2	-	3	609	c.175G>A	c.(175-177)Gag>Aag	p.E59K	PNCK_ENST00000370145.4_Missense_Mutation_p.E76K|PNCK_ENST00000370150.1_Missense_Mutation_p.E59K|PNCK_ENST00000370142.1_Missense_Mutation_p.E59K|PNCK_ENST00000447676.2_Missense_Mutation_p.E142K|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Missense_Mutation_p.E59K	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	59	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCTCGTTCTCCACCAGGGCC	0.682													57	70					0	0	0	0	T	152938046	C	T	152938046	3	4	328	1	0	0	0	0	1	0	0	0	12217	864	30	2	892	2	PNCK	23	152938046	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1184	152938046	2332514	2737	60951	732	2									
PNCK	139728	broad.mit.edu	37	chrX	152938047	152938047	+	Silent	SNP	C	C	T																															agcactgcgatctcgttctcCaccagggcctccttgccccg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152938047C>T	ENST00000393831.2	-	3	608	c.174G>A	c.(172-174)gtG>gtA	p.V58V	PNCK_ENST00000370145.4_Silent_p.V75V|PNCK_ENST00000370150.1_Silent_p.V58V|PNCK_ENST00000370142.1_Silent_p.V58V|PNCK_ENST00000447676.2_Silent_p.V141V|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Silent_p.V58V	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	58	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCGTTCTCCACCAGGGCCT	0.682													57	71					0	0	0	0	T	152938047	C	T	152938047	2	4	328	1	0	0	0	0	0	0	0	1	12217	581	21	4		4	PNCK	23	152938047	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	152938047	2332513	2738	60952	732	2									
SLC6A8	6535	broad.mit.edu	37	chrX	152957558	152957558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagggggtcaaatccacggGaaaggtaccactagaggcat	14	5	14	8	1	1	1	1	0	0	1	2	3	2	2	2	5	1	2	2	5	5	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152957558G>A	ENST00000253122.5	+	4	1249	c.773G>A	c.(772-774)gGa>gAa	p.G258E	SLC6A8_ENST00000430077.2_Missense_Mutation_p.G143E	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	258					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	AAATCCACGGGAAAGGTACCA	0.632													11	12					0	0	0	0	A	152957558	G	A	152957558	3	1	328	1	0	0	0	0	1	0	0	0	14778	1174	41	2	787	2	SLC6A8	23	152957558	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	19511	152957558	2313002	2739	60953											
BCAP31	10134	broad.mit.edu	37	chrX	152981081	152981081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaagtgctccatggccccgGgattgttctggaggttcacc	6	10	14	11	1	2	0	1	0	1	0	3	3	3	3	4	5	1	3	4	5	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152981081G>A	ENST00000458587.2	-	4	887	c.458C>T	c.(457-459)cCc>cTc	p.P153L	BCAP31_ENST00000477175.1_5'UTR|BCAP31_ENST00000345046.6_Missense_Mutation_p.P86L|BCAP31_ENST00000441714.1_Missense_Mutation_p.P86L	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	86					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGGCCCCGGGATTGTTCTG	0.537													57	97					0	0	0	0	A	152981081	G	A	152981081	3	1	328	1	0	0	0	0	1	0	0	0	1351	1232	43	4	503	4	BCAP31	23	152981081	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	23523	152981081	2289479	2740	60954											
IDH3G	3421	broad.mit.edu	37	chrX	153051682	153051682	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacattctcattgtccatGgatgccaggacagccttacg	9	11	8	13	1	2	0	2	0	1	0	4	2	3	2	3	2	3	0	3	2	1	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153051682G>A	ENST00000370092.3	-	12	1250	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	IDH3G_ENST00000217901.5_Silent_p.S355S|IDH3G_ENST00000427365.2_Silent_p.S297S|IDH3G_ENST00000370093.1_3'UTR	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	355					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CATTGTCCATGGATGCCAGGA	0.647													27	47					0	0	0	0	A	153051682	G	A	153051682	2	1	328	1	0	0	0	0	0	0	0	1	7551	1335	47	4		4	IDH3G	23	153051682	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	70601	153051682	2218878	2741	60955											
L1CAM	3897	broad.mit.edu	37	chrX	153130378	153130378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcaggtgggggctgagatCggtcaggttgtgtgtccgaa	6	9	18	8	3	1	1	1	1	0	1	3	3	2	1	2	5	0	3	2	5	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153130378C>T	ENST00000370060.1	-	23	3133	c.2944G>A	c.(2944-2946)Gat>Aat	p.D982N	L1CAM_ENST00000543994.1_Missense_Mutation_p.D984N|L1CAM_ENST00000370057.3_Missense_Mutation_p.D982N|L1CAM_ENST00000361981.3_Missense_Mutation_p.D977N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D984N|L1CAM_ENST00000361699.4_Missense_Mutation_p.D982N|L1CAM_ENST00000370055.1_Missense_Mutation_p.D977N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	982	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTGAGATCGGTCAGGTTG	0.622													110	143					0	0	0	0	T	153130378	C	T	153130378	3	4	328	1	0	0	0	0	1	0	0	0	8641	884	31	1	857	1	L1CAM	23	153130378	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	78696	153130378	2140182	2742	60956											
L1CAM	3897	broad.mit.edu	37	chrX	153133365	153133365	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggcaccggcccagggctcCctgagggtggggagggtcgg	4	5	21	11	2	0	1	0	1	0	0	2	2	1	2	3	8	0	2	3	8	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153133365C>T	ENST00000370060.1	-	16	2018	c.1828_splice	c.e16-1	p.G610_splice	L1CAM_ENST00000543994.1_Splice_Site_p.G612_splice|L1CAM_ENST00000370057.3_Splice_Site_p.G610_splice|L1CAM_ENST00000361981.3_Splice_Site_p.G605_splice|L1CAM_ENST00000538883.1_Splice_Site_p.G612_splice|L1CAM_ENST00000361699.4_Splice_Site_p.G610_splice|L1CAM_ENST00000370055.1_Splice_Site_p.G605_splice	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	610					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGGGCTCCCTGAGGGTGG	0.662													73	74					0	0	0	0	T	153133365	C	T	153133365	5	4	328	1	0	0	0	0	0	0	1	0	8641	637	22	4	2000	4	L1CAM	23	153133365	Splice_Site	SNP	C	TCGA-CV-7568-01A-11D-2229-08	2987	153133365	2137195	2743	60957											
L1CAM	3897	broad.mit.edu	37	chrX	153133564	153133564	+	Missense_Mutation	SNP	C	C	T																															gtggatgaccaggcgcccatCctctatgaagtacctgcgga																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153133564C>T	ENST00000370060.1	-	15	1906	c.1717G>A	c.(1717-1719)Gat>Aat	p.D573N	L1CAM_ENST00000543994.1_Missense_Mutation_p.D575N|L1CAM_ENST00000370057.3_Missense_Mutation_p.D573N|L1CAM_ENST00000361981.3_Missense_Mutation_p.D568N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D575N|L1CAM_ENST00000361699.4_Missense_Mutation_p.D573N|L1CAM_ENST00000370055.1_Missense_Mutation_p.D568N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	573	Ig-like C2-type 6.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCGCCCATCCTCTATGAAG	0.612													24	37					0	0	0	0	T	153133564	C	T	153133564	3	4	328	1	0	0	0	0	1	0	0	0	8641	855	30	2	2116	2	L1CAM	23	153133564	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	199	153133564	2136996	2744	60958	733	2									
L1CAM	3897	broad.mit.edu	37	chrX	153133565	153133565	+	Silent	SNP	C	C	T																															tggatgaccaggcgcccatcCtctatgaagtacctgcggag																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153133565C>T	ENST00000370060.1	-	15	1905	c.1716G>A	c.(1714-1716)gaG>gaA	p.E572E	L1CAM_ENST00000543994.1_Silent_p.E574E|L1CAM_ENST00000370057.3_Silent_p.E572E|L1CAM_ENST00000361981.3_Silent_p.E567E|L1CAM_ENST00000538883.1_Silent_p.E574E|L1CAM_ENST00000361699.4_Silent_p.E572E|L1CAM_ENST00000370055.1_Silent_p.E567E	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	572	Ig-like C2-type 6.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCCCATCCTCTATGAAGT	0.617													22	37					0	0	0	0	T	153133565	C	T	153133565	2	4	328	1	0	0	0	0	0	0	0	1	8641	680	24	4		4	L1CAM	23	153133565	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	1	153133565	2136995	2745	60959	733	2									
ARHGAP4	393	broad.mit.edu	37	chrX	153178233	153178233	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggcggctcttctggAattttctctgtgtgtactgg	3	15	15	8	1	3	0	0	0	3	0	4	1	3	1	0	6	1	3	0	6	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153178233A>T	ENST00000370028.3	-	13	1640	c.1583T>A	c.(1582-1584)tTc>tAc	p.F528Y	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.F467Y|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.F488Y|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.F465Y|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.F310Y	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	488	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTTCTGGAATTTTCTCTG	0.592													63	88					0	0	0	0	T	153178233	A	T	153178233	3	4	328	1	0	0	0	0	1	0	0	0	887	246	9	5	1421	5	ARHGAP4	23	153178233	Missense_Mutation	SNP	A	TCGA-CV-7568-01A-11D-2229-08	44668	153178233	2092327	2746	60960											
ARHGAP4	393	broad.mit.edu	37	chrX	153184378	153184378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttggctttgtcccctggagGatccagggcctccacagctt	5	11	11	14	0	0	0	0	0	0	0	3	2	3	2	5	4	1	2	5	4	0	3			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153184378G>A	ENST00000370028.3	-	8	1117	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.P293S|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.P314S|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.P291S|ARHGAP4_ENST00000393721.1_Intron	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	314					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCTGGAGGATCCAGGGCC	0.647													63	79					0	0	0	0	A	153184378	G	A	153184378	3	1	328	1	0	0	0	0	1	0	0	0	887	1174	41	2	1964	2	ARHGAP4	23	153184378	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	6145	153184378	2086182	2747	60961											
RENBP	5973	broad.mit.edu	37	chrX	153205608	153205608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggcgcagcagcacagggtCcccactgtcactgtaaccca	10	5	11	15	1	1	0	1	0	0	0	2	1	2	0	3	2	3	4	3	2	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153205608C>T	ENST00000393700.3	-	9	1104	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.D328N	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	342					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	AGCACAGGGTCCCCACTGTCA	0.602													48	46					0	0	0	0	T	153205608	C	T	153205608	3	4	328	1	0	0	0	0	1	0	0	0	13307	855	30	2	271	2	RENBP	23	153205608	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	21230	153205608	2064952	2748	60962											
HCFC1	3054	broad.mit.edu	37	chrX	153220649	153220649	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcggaccacgctaccattCtgctggcccacagtcgaggt	8	8	10	15	3	1	0	0	0	1	0	3	2	1	1	3	3	2	2	3	3	1	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153220649C>T	ENST00000310441.7	-	17	4167	c.3201G>A	c.(3199-3201)caG>caA	p.Q1067Q	HCFC1_ENST00000354233.3_Silent_p.Q998Q|HCFC1_ENST00000369984.4_Silent_p.Q1067Q	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1067					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTACCATTCTGCTGGCCCA	0.642													38	56					0	0	0	0	T	153220649	C	T	153220649	2	4	328	1	0	0	0	0	0	0	0	1	7041	912	32	2		2	HCFC1	23	153220649	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	15041	153220649	2049911	2749	60963											
HCFC1	3054	broad.mit.edu	37	chrX	153224146	153224146	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgggtgccgaggaagggggGatcttctgggtggcagcggc	5	7	22	7	2	2	0	0	0	2	0	2	3	2	2	1	8	2	1	1	8	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153224146G>A	ENST00000310441.7	-	10	2643	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	HCFC1_ENST00000369984.4_Silent_p.I559I|HCFC1_ENST00000354233.3_Silent_p.I490I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	559					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGGGGGGATCTTCTGGG	0.657													32	57					0	0	0	0	A	153224146	G	A	153224146	2	1	328	1	0	0	0	0	0	0	0	1	7041	1164	41	2		2	HCFC1	23	153224146	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	3497	153224146	2046414	2750	60964											
HCFC1	3054	broad.mit.edu	37	chrX	153228798	153228798	+	Missense_Mutation	SNP	G	G	A																															tatgtgactcccggggtggtGgtaggaccccgtaagtgatg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153228798G>A	ENST00000310441.7	-	4	1556	c.590C>T	c.(589-591)cCa>cTa	p.P197L	HCFC1_ENST00000369984.4_Missense_Mutation_p.P197L|HCFC1_ENST00000354233.3_Missense_Mutation_p.P197L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	197					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGGTGGTGGTAGGACCCC	0.542													44	79					0	0	0	0	A	153228798	G	A	153228798	3	1	328	1	0	0	0	0	1	0	0	0	7041	1348	47	4	5609	4	HCFC1	23	153228798	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4652	153228798	2041762	2751	60965	734	2									
HCFC1	3054	broad.mit.edu	37	chrX	153228799	153228799	+	Missense_Mutation	SNP	G	G	A																															atgtgactcccggggtggtgGtaggaccccgtaagtgatgg																										TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153228799G>A	ENST00000310441.7	-	4	1555	c.589C>T	c.(589-591)Cca>Tca	p.P197S	HCFC1_ENST00000369984.4_Missense_Mutation_p.P197S|HCFC1_ENST00000354233.3_Missense_Mutation_p.P197S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	197					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGGTGGTGGTAGGACCCCG	0.537													45	77					0	0	0	0	A	153228799	G	A	153228799	3	1	328	1	0	0	0	0	1	0	0	0	7041	1261	44	4	5610	4	HCFC1	23	153228799	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	1	153228799	2041761	2752	60966	734	2									
IRAK1	3654	broad.mit.edu	37	chrX	153282473	153282473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgggctgtacccagaaGgatgtccagtcgctgaggcc	7	7	14	13	2	0	2	0	1	0	1	2	3	1	3	4	3	2	3	4	3	2	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153282473G>A	ENST00000369980.3	-	8	1122	c.955C>T	c.(955-957)Ctt>Ttt	p.L319F	IRAK1_ENST00000369974.2_Missense_Mutation_p.L319F|IRAK1_ENST00000393682.1_Missense_Mutation_p.L345F|IRAK1_ENST00000393687.2_Missense_Mutation_p.L319F|IRAK1_ENST00000429936.2_Missense_Mutation_p.L345F|IRAK1_ENST00000477274.1_5'UTR	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	319	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTACCCAGAAGGATGTCCAGT	0.612													58	119					0	0	0	0	A	153282473	G	A	153282473	3	1	328	1	0	0	0	0	1	0	0	0	7874	1000	35	4	1211	4	IRAK1	23	153282473	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	53674	153282473	1988087	2753	60967											
MECP2	4204	broad.mit.edu	37	chrX	153296670	153296670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacctgcacaccctctgaCgtggccgccttgggtctcgt	4	11	10	16	3	3	1	1	1	2	0	4	1	3	1	4	2	1	1	4	2	0	2	rs61749722		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153296670C>T	ENST00000407218.1	-	5	685	c.500G>A	c.(499-501)cGt>cAt	p.R167H	MECP2_ENST00000453960.2_Silent_p.T215T|MECP2_ENST00000303391.6_Silent_p.T203T			P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	82			R -> W (in MRXS13).		negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCCTCTGACGTGGCCGCCT	0.597													118	174					0	0	0	0	T	153296670	C	T	153296670	3	4	328	1	0	0	0	0	1	0	0	0	9492	523	19	1	855	1	MECP2	23	153296670	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	14197	153296670	1973890	2754	60968											
FLNA	2316	broad.mit.edu	37	chrX	153580036	153580036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcgggaatgtgttcctcGttgaacttgactgagacttc	7	14	11	9	2	0	3	0	3	0	1	4	5	1	4	1	1	1	2	1	1	2	4			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153580036G>A	ENST00000422373.1	-	42	7160	c.6912C>T	c.(6910-6912)aaC>aaT	p.N2304N	FLNA_ENST00000360319.4_Silent_p.N2304N|FLNA_ENST00000369856.3_Silent_p.N445N|FLNA_ENST00000344736.4_Silent_p.N2272N|FLNA_ENST00000369850.3_Silent_p.N2312N	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2312					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTGTTCCTCGTTGAACTTGA	0.607													30	40					0	0	0	0	A	153580036	G	A	153580036	2	1	328	1	0	0	0	0	0	0	0	1	5978	1136	40	1		1	FLNA	23	153580036	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	283366	153580036	1690524	2755	60969											
FLNA	2316	broad.mit.edu	37	chrX	153586662	153586662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgccagtggtgttgagccCggggccactggccttcacct	5	8	13	15	2	1	1	1	1	0	0	1	1	1	1	5	4	1	1	5	4	0	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153586662C>T	ENST00000422373.1	-	28	4908	c.4660G>A	c.(4660-4662)Ggg>Agg	p.G1554R	FLNA_ENST00000360319.4_Missense_Mutation_p.G1554R|FLNA_ENST00000344736.4_Missense_Mutation_p.G1554R|FLNA_ENST00000369850.3_Missense_Mutation_p.G1554R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1554	Interaction with furin (By similarity).				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTTGAGCCCGGGGCCACTG	0.617													18	31					0	0	0	0	T	153586662	C	T	153586662	3	4	328	1	0	0	0	0	1	0	0	0	5978	652	23	1	3367	1	FLNA	23	153586662	Missense_Mutation	SNP	C	TCGA-CV-7568-01A-11D-2229-08	6626	153586662	1683898	2756	60970											
FLNA	2316	broad.mit.edu	37	chrX	153590892	153590892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtcgaagtcgatgtcaGcttcggcggggcctaccact	7	10	13	11	4	1	1	1	1	0	0	4	3	1	1	2	3	2	1	2	3	2	2			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153590892G>A	ENST00000422373.1	-	17	2707	c.2459C>T	c.(2458-2460)gCt>gTt	p.A820V	FLNA_ENST00000360319.4_Missense_Mutation_p.A820V|FLNA_ENST00000344736.4_Missense_Mutation_p.A820V|FLNA_ENST00000369850.3_Missense_Mutation_p.A820V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	820					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCGATGTCAGCTTCGGCGGG	0.622													71	111					0	0	0	0	A	153590892	G	A	153590892	3	1	328	1	0	0	0	0	1	0	0	0	5978	971	34	4	5612	4	FLNA	23	153590892	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	4230	153590892	1679668	2757	60971											
FLNA	2316	broad.mit.edu	37	chrX	153596373	153596373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcgtcccacatGggcatggagatggagtagtg	7	10	12	12	1	0	1	0	0	0	1	5	3	4	2	4	3	0	2	4	3	1	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153596373G>A	ENST00000422373.1	-	3	707	c.459C>T	c.(457-459)ccC>ccT	p.P153P	FLNA_ENST00000360319.4_Silent_p.P153P|FLNA_ENST00000344736.4_Silent_p.P153P|FLNA_ENST00000369850.3_Silent_p.P153P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	153	Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGTCCCACATGGGCATGGAGA	0.597													107	143					0	0	0	0	A	153596373	G	A	153596373	2	1	328	1	0	0	0	0	0	0	0	1	5978	1335	47	4		4	FLNA	23	153596373	Silent	SNP	G	TCGA-CV-7568-01A-11D-2229-08	5481	153596373	1674187	2758	60972											
TAZ	6901	broad.mit.edu	37	chrX	153641566	153641566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctgaaactccgccacatCtggaacctgaagttgatgcg	11	9	9	12	2	1	3	0	3	1	0	3	4	3	4	4	1	3	1	4	1	3	1			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153641566C>T	ENST00000299328.5	+	3	550	c.261C>T	c.(259-261)atC>atT	p.I87I	TAZ_ENST00000351413.4_Silent_p.I87I|TAZ_ENST00000369776.4_Silent_p.I62I|TAZ_ENST00000369790.4_Silent_p.I87I|TAZ_ENST00000350743.4_Silent_p.I87I	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	87					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCGCCACATCTGGAACCTGA	0.607													20	42					0	0	0	0	T	153641566	C	T	153641566	2	4	328	1	0	0	0	0	0	0	0	1	15687	903	32	2		2	TAZ	23	153641566	Silent	SNP	C	TCGA-CV-7568-01A-11D-2229-08	45193	153641566	1628994	2759	60973											
SLC10A3	8273	broad.mit.edu	37	chrX	153716489	153716489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctccccccgccgccaggcGacgagcaggtgatgatgagg	8	4	15	14	4	0	3	0	3	0	0	1	5	1	3	5	3	2	2	5	3	0	0			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153716489G>A	ENST00000263512.4	-	2	1289	c.791C>T	c.(790-792)tCg>tTg	p.S264L	SLC10A3_ENST00000393587.4_Missense_Mutation_p.S264L|SLC10A3_ENST00000393586.1_Missense_Mutation_p.S319L|SLC10A3_ENST00000369649.4_Missense_Mutation_p.S235L	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	264					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCGCCAGGCGACGAGCAGGT	0.622													44	61					0	0	0	0	A	153716489	G	A	153716489	3	1	328	1	0	0	0	0	1	0	0	0	14463	1059	37	1	646	1	SLC10A3	23	153716489	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	74923	153716489	1554071	2760	60974											
F8	2157	broad.mit.edu	37	chrX	154157819	154157819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atatataggtctaatagatgGaaatgatgatacctttgcaa	16	13	8	4	0	1	3	0	2	1	1	1	4	1	4	1	2	2	1	1	2	8	7			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:154157819G>A	ENST00000360256.4	-	14	4446	c.4246C>T	c.(4246-4248)Cca>Tca	p.P1416S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1416	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTAATAGATGGAAATGATGAT	0.423													95	94					0	0	0	0	A	154157819	G	A	154157819	3	1	328	1	0	0	0	0	1	0	0	0	5388	1174	41	2	2889	2	F8	23	154157819	Missense_Mutation	SNP	G	TCGA-CV-7568-01A-11D-2229-08	441330	154157819	1112741	2761	60975											
F8	2157	broad.mit.edu	37	chrX	154213059	154213059	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcatcaaggagttctttgtTtctgagtgccaacttttccc	7	16	8	10	0	3	1	1	1	2	0	4	2	4	2	2	1	3	3	2	1	2	5			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:154213059T>G	ENST00000360256.4	-	6	890	c.690A>C	c.(688-690)gaA>gaC	p.E230D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	230	F5/8 type A 1.|Plastocyanin-like 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTTCTTTGTTTCTGAGTGCC	0.493													64	81					0	0	0	0	G	154213059	T	G	154213059	3	3	328	1	0	0	0	0	1	0	0	0	5388	1838	64	5	6477	5	F8	23	154213059	Missense_Mutation	SNP	T	TCGA-CV-7568-01A-11D-2229-08	55240	154213059	1057501	2762	60976											
CCNL2	81669	broad.mit.edu	37	chr1	1322615	1322615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgcaaccccgcctcacCtccgatgcctgctgtgccca	6	8	7	20	2	2	0	2	0	0	0	3	1	3	0	7	0	5	2	7	0	1	0			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:1322615C>T	ENST00000400809.3	-	11	1564	c.1559G>A	c.(1558-1560)aGg>aAg	p.R520K	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.R298K	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	520					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCCGCCTCACCTCCGATGCCT	0.642													9	81					0	0	0	0	T	1322615	C	T	1322615	3	4	329	1	0	0	0	0	1	0	0	0	2961	681	24	4	7	4	CCNL2	1	1322615	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08		1322615	247928006	1	60977											
CDK11B	984	broad.mit.edu	37	chr1	1572327	1572327	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccggggtgtaggccttcaGaggggatccgtactcccgcg	6	7	16	12	4	1	1	1	0	0	1	3	3	3	2	4	5	1	2	4	5	2	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:1572327G>A	ENST00000407249.3	-	17	1740	c.1741C>T	c.(1741-1743)Ctg>Ttg	p.L581L	CDK11B_ENST00000317673.7_Silent_p.L579L|CDK11B_ENST00000341832.6_Silent_p.L534L|CDK11B_ENST00000340677.5_Silent_p.L568L			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	591	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TAGGCCTTCAGAGGGGATCCG	0.677													5	35					0	0	0	0	A	1572327	G	A	1572327	2	1	329	1	0	0	0	0	0	0	0	1	3156	933	33	2		2	CDK11B	1	1572327	Silent	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	249712	1572327	247678294	2	60978											
SLC25A33	84275	broad.mit.edu	37	chr1	9640095	9640095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cattcgtggcttctatagagGattaactgcctcgtatgctg	8	14	10	9	2	1	1	0	0	1	1	3	2	1	2	1	2	3	3	1	2	4	6			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:9640095G>A	ENST00000302692.6	+	6	776	c.566G>A	c.(565-567)gGa>gAa	p.G189E		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	189					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		TTCTATAGAGGATTAACTGCC	0.418													4	20					0	0	0	0	A	9640095	G	A	9640095	3	1	329	1	0	0	0	0	1	0	0	0	14585	1174	41	2	588	2	SLC25A33	1	9640095	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	8067768	9640095	239610526	3	60979											
SPEN	23013	broad.mit.edu	37	chr1	16254889	16254889	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccgggacagagaccatgaGaggaggccgattgaacgaag	14	3	16	8	3	0	3	0	2	0	2	0	10	0	5	3	3	1	0	3	3	2	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:16254889G>A	ENST00000375759.3	+	11	2358	c.2154G>A	c.(2152-2154)gaG>gaA	p.E718E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	718	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGACCATGAGAGGAGGCCGA	0.488													11	46					0	0	0	0	A	16254889	G	A	16254889	2	1	329	1	0	0	0	0	0	0	0	1	15128	933	33	2		2	SPEN	1	16254889	Silent	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	6614794	16254889	232995732	4	60980											
WDTC1	23038	broad.mit.edu	37	chr1	27621045	27621045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgactacaacaaccgtttGagagtgctggttgccaccta	10	10	9	12	1	0	2	0	2	0	1	0	3	0	2	4	1	5	3	4	1	4	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:27621045G>A	ENST00000319394.3	+	9	1333	c.798G>A	c.(796-798)ttG>ttA	p.L266L	WDTC1_ENST00000361771.3_Silent_p.L266L	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	266							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		ACAACCGTTTGAGAGTGCTGG	0.527													8	37					0	0	0	0	A	27621045	G	A	27621045	2	1	329	1	0	0	0	0	0	0	0	1	17438	1281	45	2		2	WDTC1	1	27621045	Silent	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	11366156	27621045	221629576	5	60981											
MACF1	23499	broad.mit.edu	37	chr1	39797963	39797963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagagattttgtcctggaaGaaagcaatagaaagtggtat	16	10	11	4	0	0	3	0	0	0	3	1	5	1	4	1	2	1	2	1	2	6	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:39797963G>C	ENST00000564288.1	+	37	6480	c.5703G>C	c.(5701-5703)aaG>aaC	p.K1901N	MACF1_ENST00000289893.4_Missense_Mutation_p.K341N|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.K1906N|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.K1938N|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1906					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTCCTGGAAGAAAGCAATAG	0.403													4	47					0	0	0	0	C	39797963	G	C	39797963	3	2	329	1	0	0	0	0	1	0	0	0	9209	933	33	2	5794	2	MACF1	1	39797963	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	12176918	39797963	209452658	6	60982											
PTPRF	5792	broad.mit.edu	37	chr1	44075077	44075077	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggacccactctccgtcctCtaaggatgagcagtcgatcg	10	8	10	13	3	2	1	0	1	2	0	6	4	3	3	3	2	1	1	3	2	2	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:44075077C>G	ENST00000359947.4	+	22	4221	c.3881C>G	c.(3880-3882)tCt>tGt	p.S1294C	PTPRF_ENST00000438120.1_Missense_Mutation_p.S1285C|PTPRF_ENST00000372413.3_Missense_Mutation_p.S1285C|PTPRF_ENST00000372414.3_Missense_Mutation_p.S1294C|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.S642C	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1294					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCTCCGTCCTCTAAGGATGAG	0.587													9	20					0	0	0	0	G	44075077	C	G	44075077	3	3	329	1	0	0	0	0	1	0	0	0	12883	913	32	2	3959	2	PTPRF	1	44075077	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	4277114	44075077	205175544	7	60983											
FAF1	11124	broad.mit.edu	37	chr1	51050456	51050456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtcatctccatcgctatCactaaccatatgaacatcgg	14	10	5	12	2	3	1	2	1	1	0	6	1	3	1	2	1	2	1	2	1	5	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:51050456C>T	ENST00000396153.2	-	10	1319	c.868G>A	c.(868-870)Gat>Aat	p.D290N	FAF1_ENST00000371778.4_Missense_Mutation_p.D290N|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Missense_Mutation_p.D48N	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	290					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCATCGCTATCACTAACCATA	0.363													5	24					0	0	0	0	T	51050456	C	T	51050456	3	4	329	1	0	0	0	0	1	0	0	0	5410	826	29	2	1124	2	FAF1	1	51050456	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	6975379	51050456	198200165	8	60984											
DNAJC6	9829	broad.mit.edu	37	chr1	65851492	65851492	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactgtcagtccaatacccTttttcaacaaacagaggaat	14	11	5	11	0	3	1	3	0	0	1	4	2	4	2	2	1	3	0	2	1	5	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:65851492T>C	ENST00000395325.3	+	7	884	c.727T>C	c.(727-729)Ttt>Ctt	p.F243L	DNAJC6_ENST00000263441.7_Missense_Mutation_p.F230L|DNAJC6_ENST00000371069.4_Missense_Mutation_p.F300L|DNAJC6_ENST00000498720.1_3'UTR	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	243	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCCAATACCCTTTTTCAACAA	0.438													4	47					0	0	0	0	C	65851492	T	C	65851492	3	2	329	1	0	0	0	0	1	0	0	0	4689	1609	56	5	753	5	DNAJC6	1	65851492	Missense_Mutation	SNP	T	TCGA-CV-A45O-01A-21D-A24D-08	14801036	65851492	183399129	9	60985											
BTBD8	284697	broad.mit.edu	37	chr1	92568216	92568216	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgacagagatgatgatttCatttccaatggtgaggtatt	12	14	11	4	0	1	5	1	4	0	1	2	6	2	5	1	2	0	1	1	2	2	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:92568216C>T	ENST00000370382.3	+	3	801	c.534C>T	c.(532-534)ttC>ttT	p.F178F	BTBD8_ENST00000540648.1_Silent_p.F178F|BTBD8_ENST00000342818.3_Silent_p.F178F			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	178						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ATGATGATTTCATTTCCAATG	0.323													4	16					0	0	0	0	T	92568216	C	T	92568216	2	4	329	1	0	0	0	0	0	0	0	1	1556	825	29	2		2	BTBD8	1	92568216	Silent	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	26716724	92568216	156682405	10	60986											
TRIM33	51592	broad.mit.edu	37	chr1	114968304	114968304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgcccaactacaacattagGagtataaccaggagctggtt	13	10	9	9	0	0	0	0	0	0	0	0	2	0	2	2	3	6	3	2	3	6	6			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:114968304G>A	ENST00000358465.2	-	9	1545	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	TRIM33_ENST00000369543.2_Missense_Mutation_p.P488S|TRIM33_ENST00000450349.2_Missense_Mutation_p.P96S	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	488					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		ACAACATTAGGAGTATAACCA	0.373			T	RET	papillary thyroid								11	73					0	0	0	0	A	114968304	G	A	114968304	3	1	329	1	0	0	0	0	1	0	0	0	16602	1174	41	2	1969	2	TRIM33	1	114968304	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	22400088	114968304	134282317	11	60987											
CRNN	49860	broad.mit.edu	37	chr1	152382990	152382990	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagctttctgggtctgctCtgtctgcccagagagttgta	5	14	11	11	0	4	1	0	0	4	1	5	2	5	1	2	1	3	4	2	1	1	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:152382990C>G	ENST00000271835.3	-	3	630	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	190	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGTCTGCTCTGTCTGCCCA	0.567													34	259					0	0	0	0	G	152382990	C	G	152382990	3	3	329	1	0	0	0	0	1	0	0	0	3922	922	32	2	923	2	CRNN	1	152382990	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	37414686	152382990	96867631	12	60988											
JTB	10899	broad.mit.edu	37	chr1	153947166	153947166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaatgtagctatatggactCgatttgcttccggacctttt	8	15	10	8	2	0	0	0	0	0	0	2	4	1	3	2	3	2	3	2	3	4	7			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:153947166C>T	ENST00000271843.4	-	5	865	c.430G>A	c.(430-432)Gag>Aag	p.E144K	JTB_ENST00000356648.1_Missense_Mutation_p.E115K|JTB_ENST00000368589.1_Missense_Mutation_p.E115K	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	144					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TATATGGACTCGATTTGCTTC	0.483													13	92					0	0	0	0	T	153947166	C	T	153947166	3	4	329	1	0	0	0	0	1	0	0	0	8020	893	31	1	14	1	JTB	1	153947166	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	1564176	153947166	95303455	13	60989											
LAMC1	3915	broad.mit.edu	37	chr1	183079669	183079669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtatgaagaacgaatttGataagctggtgtgtaattgc	13	13	12	3	1	0	3	0	2	0	1	0	4	0	3	0	1	3	3	0	1	6	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:183079669G>C	ENST00000258341.4	+	4	1158	c.901G>C	c.(901-903)Gat>Cat	p.D301H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	301	Laminin EGF-like 1.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAACGAATTTGATAAGCTGGT	0.438													12	101					0	0	0	0	C	183079669	G	C	183079669	3	2	329	1	0	0	0	0	1	0	0	0	8667	1290	45	2	915	2	LAMC1	1	183079669	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	29132503	183079669	66170952	14	60990											
USH2A	7399	broad.mit.edu	37	chr1	215844402	215844402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaggactggattggattttCtaggctgagttgctatttgt	7	18	12	4	0	1	1	0	1	1	0	1	4	1	4	0	4	1	3	0	4	3	8			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:215844402C>G	ENST00000366943.2	-	64	14431	c.14045G>C	c.(14044-14046)aGa>aCa	p.R4682T	USH2A_ENST00000307340.3_Missense_Mutation_p.R4682T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4682	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGGATTTTCTAGGCTGAGT	0.388										HNSCC(13;0.011)			12	69					0	0	0	0	G	215844402	C	G	215844402	3	3	329	1	0	0	0	0	1	0	0	0	17132	913	32	2	1599	2	USH2A	1	215844402	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	32764733	215844402	33406219	15	60991											
FMN2	56776	broad.mit.edu	37	chr1	240370687	240370687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgtaacatcccatctccaCcacctctgccttgcacagag	9	9	6	17	0	2	1	0	0	2	1	4	1	3	1	5	0	3	3	5	0	1	2	rs145077825		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:240370687C>A	ENST00000319653.9	+	5	2805	c.2575C>A	c.(2575-2577)Cca>Aca	p.P859T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	859	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCATCTCCACCACCTCTGCC	0.572													13	130					4.3838e-07	4.59037e-07	1	0	A	240370687	C	A	240370687	3	1	329	1	0	0	0	0	1	0	0	0	5995	507	18	4	2593	4	FMN2	1	240370687	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	24526285	240370687	8879934	16	60992											
OTOF	9381	broad.mit.edu	37	chr2	26717839	26717839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ataggggcagttagtggactCcttcatggatgtgtacttct	8	14	12	7	0	2	0	1	0	1	0	3	2	3	2	1	4	1	3	1	4	3	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:26717839C>G	ENST00000272371.2	-	9	994	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	OTOF_ENST00000403946.3_Missense_Mutation_p.E290Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	290	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAGTGGACTCCTTCATGGAT	0.592													11	86					0	0	0	0	G	26717839	C	G	26717839	3	3	329	1	0	0	0	0	1	0	0	0	11374	864	30	2	5606	2	OTOF	2	26717839	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08		26717839	216481534	17	60993											
ALK	238	broad.mit.edu	37	chr2	29451853	29451853	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcatggcctgggggcaggaAtgtcctccggtggcaccctc	5	9	14	13	1	1	0	1	0	0	0	4	1	3	1	4	6	0	2	4	6	1	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:29451853A>G	ENST00000389048.3	-	16	3618	c.2712T>C	c.(2710-2712)caT>caC	p.H904H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	904	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGGGGCAGGAATGTCCTCCGG	0.607			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	27					0	0	0	0	G	29451853	A	G	29451853	2	3	329	1	0	0	0	0	0	0	0	1	525	98	4	5		5	ALK	2	29451853	Silent	SNP	A	TCGA-CV-A45O-01A-21D-A24D-08	2734014	29451853	213747520	18	60994											
CAPN13	92291	broad.mit.edu	37	chr2	30977169	30977169	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaataccaaaactcgccatCttcccgtttcttatgtagct	11	14	4	12	2	2	0	0	0	2	0	4	0	3	0	3	0	3	3	3	0	7	6			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:30977169C>G	ENST00000295055.8	-	9	1104	c.928G>C	c.(928-930)Gat>Cat	p.D310H	CAPN13_ENST00000534090.2_Missense_Mutation_p.D310H	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	310	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AACTCGCCATCTTCCCGTTTC	0.443													3	5					0	0	0	0	G	30977169	C	G	30977169	3	3	329	1	0	0	0	0	1	0	0	0	2651	913	32	2	1137	2	CAPN13	2	30977169	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	1525316	30977169	212222204	19	60995											
PNPT1	87178	broad.mit.edu	37	chr2	55900074	55900074	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaaggggtaaataacttctGaggtgtcctcttggtaacac	11	11	11	8	1	2	1	0	1	2	0	3	2	3	1	1	4	2	2	1	4	5	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:55900074G>A	ENST00000447944.2	-	9	906	c.820C>T	c.(820-822)Cag>Tag	p.Q274*		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	274					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATAACTTCTGAGGTGTCCTC	0.363													9	37					0	0	0	0	A	55900074	G	A	55900074	4	1	329	1	0	0	0	0	0	1	0	0	12245	1299	45	2	1611	2	PNPT1	2	55900074	Nonsense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	24922905	55900074	187299299	20	60996											
CYP26B1	56603	broad.mit.edu	37	chr2	72359628	72359628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagcggccatccttgtcctCgctccgcgcctggctgaagc	5	8	12	16	4	0	1	0	1	0	0	4	2	3	1	5	2	2	2	5	2	2	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:72359628C>T	ENST00000001146.2	-	6	1470	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	CYP26B1_ENST00000412253.1_Missense_Mutation_p.E232K|CYP26B1_ENST00000546307.1_Missense_Mutation_p.E348K	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	423					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TCCTTGTCCTCGCTCCGCGCC	0.622													10	55					0	0	0	0	T	72359628	C	T	72359628	3	4	329	1	0	0	0	0	1	0	0	0	4188	893	31	1	275	1	CYP26B1	2	72359628	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	16459554	72359628	170839745	21	60997											
ACVR1C	130399	broad.mit.edu	37	chr2	158397654	158397654	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaccagaccaacagaataGatgtcagctcgtttgaagga	16	8	9	8	1	1	4	1	1	0	3	2	5	1	5	2	1	3	2	2	1	6	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:158397654G>C	ENST00000243349.7	-	7	1533	c.1173C>G	c.(1171-1173)atC>atG	p.I391M	ACVR1C_ENST00000348328.5_Missense_Mutation_p.I234M|ACVR1C_ENST00000409680.3_Missense_Mutation_p.I341M|ACVR1C_ENST00000335450.7_Missense_Mutation_p.I311M	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	391	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CAACAGAATAGATGTCAGCTC	0.388													8	44					0	0	0	0	C	158397654	G	C	158397654	3	2	329	1	0	0	0	0	1	0	0	0	222	932	33	2	320	2	ACVR1C	2	158397654	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	86038026	158397654	84801719	22	60998											
HIBCH	26275	broad.mit.edu	37	chr2	191109624	191109624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatattaccttcaattgctCtagggcaaaagatgaaccat	15	11	6	9	0	2	2	1	1	1	1	2	2	2	2	2	1	3	2	2	1	8	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:191109624C>T	ENST00000392332.3	-	11	1019	c.880G>A	c.(880-882)Gag>Aag	p.E294K	HIBCH_ENST00000410045.1_Missense_Mutation_p.E71K|HIBCH_ENST00000359678.5_Missense_Mutation_p.E294K			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	294					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			TTCAATTGCTCTAGGGCAAAA	0.398													11	39					0	0	0	0	T	191109624	C	T	191109624	3	4	329	1	0	0	0	0	1	0	0	0	7150	922	32	2	296	2	HIBCH	2	191109624	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	32711970	191109624	52089749	23	60999											
CASP8	841	broad.mit.edu	37	chr2	202136252	202136252	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacagggtcatgctctatCagatttcagaagaagtgagc	13	9	10	9	0	4	4	3	1	1	3	4	4	4	4	1	1	2	1	1	1	3	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:202136252C>T	ENST00000358485.4	+	3	692	c.496C>T	c.(496-498)Cag>Tag	p.Q166*	CASP8_ENST00000392266.3_Nonsense_Mutation_p.Q107*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q107*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q139*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q107*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q107*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.Q107*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.Q107*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	107	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CATGCTCTATCAGATTTCAGA	0.393										HNSCC(4;0.00038)			12	22					0	0	0	0	T	202136252	C	T	202136252	4	4	329	1	0	0	0	0	0	1	0	0	2702	827	29	2	606	2	CASP8	2	202136252	Nonsense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	11026628	202136252	41063121	24	61000											
ALPP	250	broad.mit.edu	37	chr2	233246271	233246271	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacccacgcaggcgaggaCgtggcggtgttcgcgcgcgg	6	4	19	12	8	0	1	0	0	0	1	1	4	0	2	1	5	0	2	1	5	0	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:233246271C>T	ENST00000392027.2	+	11	1643	c.1374C>T	c.(1372-1374)gaC>gaT	p.D458D	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	458						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGGCGAGGACGTGGCGGTGT	0.672													3	26					0	0	0	0	T	233246271	C	T	233246271	2	4	329	1	0	0	0	0	0	0	0	1	548	535	19	1		1	ALPP	2	233246271	Silent	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	31110019	233246271	9953102	25	61001											
TGFBR2	7048	broad.mit.edu	37	chr3	30732963	30732963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgctgggaccacgacccaGaggcccgtctcacagcccag	9	4	12	16	2	1	1	1	0	1	1	2	3	1	2	4	2	2	1	4	2	0	0	rs121918714		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:30732963G>A	ENST00000295754.5	+	7	1958	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	526	Protein kinase.		E -> Q (in esophageal cancer).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCACGACCCAGAGGCCCGTCT	0.602													9	64					0	0	0	0	A	30732963	G	A	30732963	3	1	329	1	0	0	0	0	1	0	0	0	15916	943	33	2	1681	2	TGFBR2	3	30732963	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08		30732963	167289467	26	61002											
ADAMTS9	56999	broad.mit.edu	37	chr3	64644236	64644236	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccatggtatgaaaccattCtgttgtctgccaccaccaag	10	11	7	13	0	2	1	0	1	2	0	3	1	3	1	5	1	2	2	5	1	3	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:64644236C>G	ENST00000498707.1	-	4	1253	c.911G>C	c.(910-912)aGa>aCa	p.R304T	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.R304T|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R304T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	304	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R304I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGAAACCATTCTGTTGTCTGC	0.368													7	65					0	0	0	0	G	64644236	C	G	64644236	3	3	329	1	0	0	0	0	1	0	0	0	273	913	32	2	5040	2	ADAMTS9	3	64644236	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	33911273	64644236	133378194	27	61003											
ADAMTS9	56999	broad.mit.edu	37	chr3	64644310	64644310	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtccttctgtgggtcctCttttctcttgtgttgtccgt	0	22	9	10	1	3	0	0	0	3	0	7	0	6	0	3	1	0	1	3	1	0	6			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:64644310C>G	ENST00000498707.1	-	4	1179	c.837G>C	c.(835-837)aaG>aaC	p.K279N	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K279N|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K279N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	279					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGTGGGTCCTCTTTTCTCTTG	0.438													20	109					0	0	0	0	G	64644310	C	G	64644310	3	3	329	1	0	0	0	0	1	0	0	0	273	912	32	2	5114	2	ADAMTS9	3	64644310	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	74	64644310	133378120	28	61004											
GOLGB1	2804	broad.mit.edu	37	chr3	121413963	121413963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcagagagtcttgctcttCagtctcacctggtatagact	9	13	8	11	0	5	2	3	0	3	2	6	3	5	2	1	1	1	2	1	1	2	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:121413963C>T	ENST00000393667.3	-	13	5517	c.5407G>A	c.(5407-5409)Gaa>Aaa	p.E1803K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E1798K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1798					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTGCTCTTCAGTCTCACCT	0.453													15	97					0	0	0	0	T	121413963	C	T	121413963	3	4	329	1	0	0	0	0	1	0	0	0	6613	835	29	2	4427	2	GOLGB1	3	121413963	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	56769653	121413963	76608467	29	61005											
MYLK	4638	broad.mit.edu	37	chr3	123419831	123419831	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccaccacagaggtcctcGcagctggcaggctccctccc	6	6	9	20	1	0	1	0	0	0	1	5	1	4	1	6	3	1	4	6	3	0	0			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:123419831G>A	ENST00000360772.3	-	19	2862	c.2484C>T	c.(2482-2484)tgC>tgT	p.C828C	MYLK_ENST00000360304.3_Silent_p.C828C|MYLK_ENST00000359169.1_Silent_p.C828C|MYLK_ENST00000346322.5_Silent_p.C759C|MYLK_ENST00000475616.1_Silent_p.C828C			Q15746	MYLK_HUMAN	myosin light chain kinase	828					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGAGGTCCTCGCAGCTGGCAG	0.587													10	59					0	0	0	0	A	123419831	G	A	123419831	2	1	329	1	0	0	0	0	0	0	0	1	10126	1079	38	1		1	MYLK	3	123419831	Silent	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	2005868	123419831	74602599	30	61006											
PLCH1	23007	broad.mit.edu	37	chr3	155203387	155203387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggggcgctagctgtgcgtCgcagaattctatctccaatg	7	11	12	11	3	2	1	0	0	2	1	4	1	2	1	1	2	2	3	1	2	4	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:155203387C>T	ENST00000460012.1	-	22	2999	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q	PLCH1_ENST00000447496.2_Missense_Mutation_p.R919Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R881Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.R919Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.R881Q|PLCH1_ENST00000494598.1_Missense_Mutation_p.R899Q			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	919					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCTGTGCGTCGCAGAATTCT	0.473													13	44					0	0	0	0	T	155203387	C	T	155203387	3	4	329	1	0	0	0	0	1	0	0	0	12109	884	31	1	2348	1	PLCH1	3	155203387	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	31783556	155203387	42819043	31	61007											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	18					0	0	0	0	A	178936091	G	A	178936091	3	1	329	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	23732704	178936091	19086339	32	61008											
TTC14	151613	broad.mit.edu	37	chr3	180327971	180327971	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagatttgaaaaggatataGagggaagaaaagagcactat	19	7	13	2	0	0	5	0	1	0	4	0	8	0	7	0	3	1	1	0	3	8	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:180327971G>C	ENST00000296015.4	+	12	2086	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	652							RNA binding	p.E652Q(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAAGGATATAGAGGGAAGAAA	0.393													4	22					0	0	0	0	C	180327971	G	C	180327971	3	2	329	1	0	0	0	0	1	0	0	0	16777	943	33	2	2030	2	TTC14	3	180327971	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	1391880	180327971	17694459	33	61009											
TTC14	151613	broad.mit.edu	37	chr3	180328270	180328270	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttacctcagaatttactGaatatatttaatcagatagc	16	15	4	6	0	2	3	2	1	0	2	2	3	2	3	1	0	3	0	1	0	9	9			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:180328270G>A	ENST00000296015.4	+	12	2385	c.2253G>A	c.(2251-2253)ctG>ctA	p.L751L	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	751							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGAATTTACTGAATATATTTA	0.323													4	25					0	0	0	0	A	180328270	G	A	180328270	2	1	329	1	0	0	0	0	0	0	0	1	16777	1277	45	2		2	TTC14	3	180328270	Silent	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	299	180328270	17694160	34	61010											
LETM1	3954	broad.mit.edu	37	chr4	1825465	1825465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgggacaggatgagcagcGatgtggggatctcctgatgc	8	7	16	10	2	1	2	0	2	1	0	2	6	1	5	2	4	3	1	2	4	0	0			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:1825465G>A	ENST00000302787.2	-	8	1534	c.1238C>T	c.(1237-1239)tCg>tTg	p.S413L		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	413	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GATGAGCAGCGATGTGGGGAT	0.632													5	51					0	0	0	0	A	1825465	G	A	1825465	3	1	329	1	0	0	0	0	1	0	0	0	8787	1059	37	1	1009	1	LETM1	4	1825465	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08		1825465	189328811	35	61011											
WFS1	7466	broad.mit.edu	37	chr4	6303712	6303712	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccgttcttcatcggcgactgGatgcgctgcctctacggcga	5	10	12	14	6	3	0	1	0	2	0	4	3	3	1	2	3	3	2	2	3	1	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:6303712G>C	ENST00000226760.1	+	8	2360	c.2190G>C	c.(2188-2190)tgG>tgC	p.W730C	WFS1_ENST00000503569.1_Missense_Mutation_p.W730C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	730					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCGGCGACTGGATGCGCTGCC	0.642													6	29					0	0	0	0	C	6303712	G	C	6303712	3	2	329	1	0	0	0	0	1	0	0	0	17456	1183	41	2	2216	2	WFS1	4	6303712	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	4478247	6303712	184850564	36	61012											
ZNF518B	85460	broad.mit.edu	37	chr4	10447351	10447351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgacaatataatcatttCtaatagcaccatagtcacaa	16	13	4	8	0	3	1	2	1	1	0	3	1	3	1	1	0	1	2	1	0	7	7			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:10447351C>T	ENST00000326756.3	-	3	1040	c.602G>A	c.(601-603)aGa>aAa	p.R201K		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATAATCATTTCTAATAGCACC	0.428													12	128					0	0	0	0	T	10447351	C	T	10447351	3	4	329	1	0	0	0	0	1	0	0	0	18058	913	32	2	2626	2	ZNF518B	4	10447351	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	4143639	10447351	180706925	37	61013											
NIPAL1	152519	broad.mit.edu	37	chr4	48037921	48037921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccatggtagtgacttgctCtgccatcttattccaagagt	9	14	8	10	0	2	2	0	1	2	1	4	2	4	2	3	1	2	2	3	1	3	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:48037921C>T	ENST00000295461.5	+	6	1031	c.965C>T	c.(964-966)tCt>tTt	p.S322F		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	322						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GTGACTTGCTCTGCCATCTTA	0.413													7	34					0	0	0	0	T	48037921	C	T	48037921	3	4	329	1	0	0	0	0	1	0	0	0	10494	913	32	2	987	2	NIPAL1	4	48037921	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	37590570	48037921	143116355	38	61014											
RUFY3	22902	broad.mit.edu	37	chr4	71660571	71660571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagattacaaaacgacaggaGcatcccaggaaggggttccc	15	5	11	10	1	0	1	0	0	0	1	2	4	2	3	2	4	3	2	2	4	5	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:71660571G>A	ENST00000381006.3	+	14	2096	c.1517G>A	c.(1516-1518)aGc>aAc	p.S506N	RUFY3_ENST00000502653.1_Missense_Mutation_p.S453N	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	341					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AACGACAGGAGCATCCCAGGA	0.373													4	30					0	0	0	0	A	71660571	G	A	71660571	3	1	329	1	0	0	0	0	1	0	0	0	13825	971	34	4	2014	4	RUFY3	4	71660571	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	23622650	71660571	119493705	39	61015											
PPP3CA	5530	broad.mit.edu	37	chr4	102019535	102019535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacttacttttctgatatCatctaaagtgttaatctctg	13	17	4	7	0	4	1	1	1	3	0	5	1	4	1	0	0	2	1	0	0	7	6			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:102019535C>T	ENST00000394854.3	-	5	1314	c.631G>A	c.(631-633)Gat>Aat	p.D211N	PPP3CA_ENST00000394853.4_Missense_Mutation_p.D211N|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000507176.1_Missense_Mutation_p.D113N|PPP3CA_ENST00000323055.6_Missense_Mutation_p.D211N|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D144N|PPP3CA_ENST00000510292.1_5'UTR	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	211	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TTTCTGATATCATCTAAAGTG	0.398													6	27					0	0	0	0	T	102019535	C	T	102019535	3	4	329	1	0	0	0	0	1	0	0	0	12473	826	29	2	974	2	PPP3CA	4	102019535	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	30358964	102019535	89134741	40	61016											
USP38	84640	broad.mit.edu	37	chr4	144106718	144106718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctagacgaggcgcagtgcGaggccatgtttgacctgacg	8	7	16	10	4	0	3	0	2	0	1	0	5	0	3	2	3	1	3	2	3	1	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:144106718G>A	ENST00000307017.4	+	1	621	c.115G>A	c.(115-117)Gag>Aag	p.E39K	USP38_ENST00000510377.1_Missense_Mutation_p.E39K	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	39					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGCGCAGTGCGAGGCCATGTT	0.652													11	67					0	0	0	0	A	144106718	G	A	144106718	3	1	329	1	0	0	0	0	1	0	0	0	17165	1059	37	1	117	1	USP38	4	144106718	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	42087183	144106718	47047558	41	61017											
DCHS2	54798	broad.mit.edu	37	chr4	155241740	155241740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcactatttgtgctgtcAgtgatctcagtcgccggtct	8	14	9	10	2	4	1	3	1	2	0	6	1	4	1	1	1	1	1	1	1	2	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:155241740A>G	ENST00000357232.3	-	14	3445	c.3446T>C	c.(3445-3447)cTg>cCg	p.L1149P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1149	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTGTGCTGTCAGTGATCTCAG	0.468													4	91					0	0	0	0	G	155241740	A	G	155241740	3	3	329	1	0	0	0	0	1	0	0	0	4320	188	7	5	5352	5	DCHS2	4	155241740	Missense_Mutation	SNP	A	TCGA-CV-A45O-01A-21D-A24D-08	11135022	155241740	35912536	42	61018											
MTNR1A	4543	broad.mit.edu	37	chr4	187455081	187455081	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaacagccactctgggAtcctaggcaccatgctggcg	10	6	10	15	1	1	0	0	0	1	0	2	1	2	1	4	3	3	2	4	3	2	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:187455081A>G	ENST00000307161.5	-	2	1016	c.815T>C	c.(814-816)aTc>aCc	p.I272T	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	272					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CCACTCTGGGATCCTAGGCAC	0.502													10	102					0	0	0	0	G	187455081	A	G	187455081	3	3	329	1	0	0	0	0	1	0	0	0	10021	333	12	5	241	5	MTNR1A	4	187455081	Missense_Mutation	SNP	A	TCGA-CV-A45O-01A-21D-A24D-08	32213341	187455081	3699195	43	61019											
FAT1	2195	broad.mit.edu	37	chr4	187530425	187530425	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggttgccatctataattGagtagtggatgtggctgttg	7	16	13	5	0	1	1	0	1	1	0	1	2	1	2	1	3	1	4	1	3	3	7			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:187530425G>C	ENST00000441802.2	-	16	10327	c.10118C>G	c.(10117-10119)tCa>tGa	p.S3373*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3373	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCTATAATTGAGTAGTGGAT	0.478										HNSCC(5;0.00058)			9	17					0	0	0	0	C	187530425	G	C	187530425	4	2	329	1	0	0	0	0	0	1	0	0	5734	1294	45	2	3696	2	FAT1	4	187530425	Nonsense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	75344	187530425	3623851	44	61020											
FAT1	2195	broad.mit.edu	37	chr4	187628929	187628929	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgcctgcaggagcttctCtgccagcattttggcaacac	8	12	9	12	0	1	0	0	0	1	0	2	1	1	1	2	2	6	4	2	2	1	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:187628929C>A	ENST00000441802.2	-	2	2262	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	685					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGGAGCTTCTCTGCCAGCATT	0.438										HNSCC(5;0.00058)			5	41					0.014758	0.0150592	1	0	A	187628929	C	A	187628929	4	1	329	1	0	0	0	0	0	1	0	0	5734	922	32	2	11817	2	FAT1	4	187628929	Nonsense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	98504	187628929	3525347	45	61021											
MARCH6	10299	broad.mit.edu	37	chr5	10411555	10411555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caacgctattcctgtggtggGagaaggccttcatgcagccc	8	9	12	12	1	1	1	1	0	0	1	2	2	2	1	3	3	3	2	3	3	3	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:10411555G>A	ENST00000274140.5	+	19	1934	c.1802G>A	c.(1801-1803)gGa>gAa	p.G601E	MARCH6_ENST00000510792.1_Missense_Mutation_p.G299E|MARCH6_ENST00000449913.2_Missense_Mutation_p.G553E|MARCH6_ENST00000503788.1_Missense_Mutation_p.G496E	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	601					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CCTGTGGTGGGAGAAGGCCTT	0.463													6	48					0	0	0	0	A	10411555	G	A	10411555	3	1	329	1	0	0	0	0	1	0	0	0	9374	1174	41	2	1876	2	MARCH6	5	10411555	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08		10411555	170503705	46	61022											
FBXL7	23194	broad.mit.edu	37	chr5	15936847	15936847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagcgacttcggcctgcGggagatcgccaagctggagt	7	7	15	12	5	1	1	1	0	0	1	3	4	1	2	2	3	3	1	2	3	1	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:15936847G>A	ENST00000504595.1	+	4	1509	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	FBXL7_ENST00000329673.7_Missense_Mutation_p.R331Q|FBXL7_ENST00000510662.1_Missense_Mutation_p.R296Q	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	343					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TTCGGCCTGCGGGAGATCGCC	0.667													3	20					0	0	0	0	A	15936847	G	A	15936847	3	1	329	1	0	0	0	0	1	0	0	0	5769	1116	39	1	1042	1	FBXL7	5	15936847	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	5525292	15936847	164978413	47	61023											
CDH10	1008	broad.mit.edu	37	chr5	24537718	24537718	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcaataataaaaagagtAccagctccatctccagataa	18	9	4	10	0	3	2	2	0	1	2	5	2	4	2	3	0	2	2	3	0	7	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:24537718A>G	ENST00000264463.4	-	3	804	c.297T>C	c.(295-297)ggT>ggC	p.G99G		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	99	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAAAAAGAGTACCAGCTCCAT	0.368										HNSCC(23;0.051)			5	19					0	0	0	0	G	24537718	A	G	24537718	2	3	329	1	0	0	0	0	0	0	0	1	3125	378	14	5		5	CDH10	5	24537718	Silent	SNP	A	TCGA-CV-A45O-01A-21D-A24D-08	8600871	24537718	156377542	48	61024											
NPR3	4883	broad.mit.edu	37	chr5	32724837	32724837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagcagtgacaccatccGgagcatcatgctggtggcgc	8	7	14	12	3	1	1	1	1	0	0	2	3	2	2	2	3	4	3	2	3	0	0			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:32724837G>A	ENST00000265074.8	+	2	1146	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	NPR3_ENST00000415167.2_Missense_Mutation_p.R268Q|NPR3_ENST00000434067.2_Missense_Mutation_p.R52Q|NPR3_ENST00000415685.2_Missense_Mutation_p.R52Q	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	268					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GACACCATCCGGAGCATCATG	0.532													5	51					0	0	0	0	A	32724837	G	A	32724837	3	1	329	1	0	0	0	0	1	0	0	0	10667	1116	39	1	809	1	NPR3	5	32724837	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	8187119	32724837	148190423	49	61025											
FYB	2533	broad.mit.edu	37	chr5	39202662	39202662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgaagagatggcttgtttCcaggaggccagggaaatgta	11	10	15	5	0	0	2	0	1	0	1	1	5	1	4	2	4	0	3	2	4	3	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:39202662C>T	ENST00000351578.6	-	2	591	c.401G>A	c.(400-402)gGa>gAa	p.G134E	FYB_ENST00000505428.1_Missense_Mutation_p.G134E|FYB_ENST00000512982.1_Missense_Mutation_p.G134E|FYB_ENST00000515010.1_Missense_Mutation_p.G134E|FYB_ENST00000540520.1_Missense_Mutation_p.G144E	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	134					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCTTGTTTCCAGGAGGCCA	0.498													7	49					0	0	0	0	T	39202662	C	T	39202662	3	4	329	1	0	0	0	0	1	0	0	0	6172	855	30	2	2160	2	FYB	5	39202662	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	6477825	39202662	141712598	50	61026											
PTGER4	5734	broad.mit.edu	37	chr5	40692464	40692464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgaaacactgaacttatCagaaaaatgtatataatagg	19	10	7	5	0	1	3	1	2	0	1	1	3	1	3	0	1	2	1	0	1	9	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:40692464C>T	ENST00000302472.3	+	3	2475	c.1451C>T	c.(1450-1452)tCa>tTa	p.S484L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	484					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTGAACTTATCAGAAAAATGT	0.463													7	55					0	0	0	0	T	40692464	C	T	40692464	3	4	329	1	0	0	0	0	1	0	0	0	12825	838	29	2	1457	2	PTGER4	5	40692464	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	1489802	40692464	140222796	51	61027											
PAIP1	10605	broad.mit.edu	37	chr5	43529915	43529915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagccccggataaatctgttCcattttcttcataatctgga	10	14	6	11	1	4	0	1	0	3	0	5	2	5	2	3	2	1	1	3	2	3	6			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:43529915C>T	ENST00000306846.3	-	10	1551	c.1319G>A	c.(1318-1320)gGa>gAa	p.G440E	PAIP1_ENST00000338972.4_Missense_Mutation_p.G328E|PAIP1_ENST00000514514.1_Intron|PAIP1_ENST00000436644.2_Missense_Mutation_p.G361E	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	440	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TAAATCTGTTCCATTTTCTTC	0.348													3	32					0	0	0	0	T	43529915	C	T	43529915	3	4	329	1	0	0	0	0	1	0	0	0	11467	855	30	2	128	2	PAIP1	5	43529915	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	2837451	43529915	137385345	52	61028											
RNF180	285671	broad.mit.edu	37	chr5	63510034	63510034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctagtatgctgctgcaaaGattttcagtggccccccatg	8	12	9	12	0	1	1	1	0	0	1	2	1	2	1	4	1	3	4	4	1	3	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:63510034G>T	ENST00000389100.4	+	4	953	c.881G>T	c.(880-882)aGa>aTa	p.R294I	RNF180_ENST00000296615.6_Missense_Mutation_p.R294I|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	294	Interaction with ZIC2 (By similarity).					integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CTGCTGCAAAGATTTTCAGTG	0.423													6	53					2.7689e-08	2.93005e-08	1	0	T	63510034	G	T	63510034	3	4	329	1	0	0	0	0	1	0	0	0	13549	942	33	2	891	2	RNF180	5	63510034	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	19980119	63510034	117405226	53	61029											
ANKRD34B	340120	broad.mit.edu	37	chr5	79854712	79854712	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggaggggtaaggccagctGagagctgggaatcagagctg	10	7	18	6	0	1	2	1	1	0	2	1	5	1	4	1	5	3	4	1	5	2	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:79854712G>C	ENST00000338682.3	-	5	1799	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	376						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AAGGCCAGCTGAGAGCTGGGA	0.438													4	31					0	0	0	0	C	79854712	G	C	79854712	4	2	329	1	0	0	0	0	0	1	0	0	662	1294	45	2	421	2	ANKRD34B	5	79854712	Nonsense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	16344678	79854712	101060548	54	61030											
TMEM167A	153339	broad.mit.edu	37	chr5	82357701	82357701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attatagacacttaccaattCtggcacacttccaaaatata	16	12	3	10	0	1	1	0	0	1	1	2	1	2	1	2	1	1	1	2	1	8	7			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:82357701C>T	ENST00000502346.1	-	3	315	c.143G>A	c.(142-144)aGa>aAa	p.R48K	TMEM167A_ENST00000511450.1_5'UTR	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A	48						Golgi membrane|integral to membrane				large_intestine(1)|lung(1)	2						CTTACCAATTCTGGCACACTT	0.299													3	13					0	0	0	0	T	82357701	C	T	82357701	3	4	329	1	0	0	0	0	1	0	0	0	16175	913	32	2	83	2	TMEM167A	5	82357701	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	2502989	82357701	98557559	55	61031											
SLC12A2	6558	broad.mit.edu	37	chr5	127507429	127507429	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctggatatatctcatcttCaaggacaaggtaaattttgt	12	15	8	6	0	4	0	2	0	3	0	5	2	4	2	0	3	0	1	0	3	6	6			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:127507429C>T	ENST00000262461.2	+	19	2983	c.2794C>T	c.(2794-2796)Caa>Taa	p.Q932*	SLC12A2_ENST00000343225.4_Nonsense_Mutation_p.Q932*	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	932					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATCTCATCTTCAAGGACAAGG	0.289													4	32					0	0	0	0	T	127507429	C	T	127507429	4	4	329	1	0	0	0	0	0	1	0	0	14471	827	29	2	2868	2	SLC12A2	5	127507429	Nonsense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	45149728	127507429	53407831	56	61032											
ANKHD1	54882	broad.mit.edu	37	chr5	139908925	139908925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agttagctgtaccagcacctCgagtttctcatcgaatgcag	10	11	9	11	2	1	0	1	0	1	0	4	2	1	0	2	0	4	6	2	0	3	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:139908925C>G	ENST00000297183.6	+	29	6518	c.6394C>G	c.(6394-6396)Cga>Gga	p.R2132G	ANKHD1_ENST00000544120.1_Missense_Mutation_p.R515G|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R2132G|ANKHD1_ENST00000360839.2_Missense_Mutation_p.R2132G	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGCACCTCGAGTTTCTCA	0.443													26	136					0	0	0	0	G	139908925	C	G	139908925	3	3	329	1	0	0	0	0	1	0	0	0	628	876	31	3	6614	3	ANKHD1	5	139908925	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	12401496	139908925	41006335	57	61033											
ANKHD1	54882	broad.mit.edu	37	chr5	139909058	139909058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcaaggcccaccagctgCagtgcagctttcttcagctg	8	9	9	15	0	3	0	2	0	1	0	3	0	3	0	3	1	5	5	3	1	1	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:139909058C>T	ENST00000297183.6	+	29	6651	c.6527C>T	c.(6526-6528)gCa>gTa	p.A2176V	ANKHD1_ENST00000544120.1_Missense_Mutation_p.A559V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.A2176V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.A2176V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCAGCTGCAGTGCAGCTT	0.443													10	93					0	0	0	0	T	139909058	C	T	139909058	3	4	329	1	0	0	0	0	1	0	0	0	628	710	25	4	6747	4	ANKHD1	5	139909058	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	133	139909058	41006202	58	61034											
PCDHA4	56144	broad.mit.edu	37	chr5	140188818	140188818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaggcctcctcacgggcGttggtgggcgctgtgggtcc	4	8	16	13	3	1	0	1	0	0	0	3	0	3	0	4	5	0	2	4	5	1	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:140188818G>A	ENST00000530339.1	+	1	2046	c.2046G>A	c.(2044-2046)gcG>gcA	p.A682A	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.A682A|PCDHA4_ENST00000356878.4_Silent_p.A682A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCACGGGCGTTGGTGGGCG	0.637													25	98					0	0	0	0	A	140188818	G	A	140188818	2	1	329	1	0	0	0	0	0	0	0	1	11597	1132	40	1		1	PCDHA4	5	140188818	Silent	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	279760	140188818	40726442	59	61035											
PCDHA9	9752	broad.mit.edu	37	chr5	140229089	140229089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctggtcattgtacacttCttgtggaagttgtggatgta	7	16	13	5	0	2	0	1	0	1	0	2	2	2	2	0	4	1	4	0	4	3	6			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:140229089C>T	ENST00000378122.3	+	1	1733	c.1009C>T	c.(1009-1011)Ctt>Ttt	p.L337F	PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.L337F|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTACACTTCTTGTGGAAGT	0.463													9	69					0	0	0	0	T	140229089	C	T	140229089	3	4	329	1	0	0	0	0	1	0	0	0	11602	913	32	2	1011	2	PCDHA9	5	140229089	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	40271	140229089	40686171	60	61036											
PCDHA12	56137	broad.mit.edu	37	chr5	140256961	140256961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcgagatcagcacgacacGcatcctggatgaggcggacg	10	5	15	11	5	1	2	1	1	0	1	2	6	2	4	1	4	1	2	1	4	0	0			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:140256961G>A	ENST00000398631.2	+	1	1904	c.1904G>A	c.(1903-1905)cGc>cAc	p.R635H	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACGACACGCATCCTGGAT	0.677													11	83					0	0	0	0	A	140256961	G	A	140256961	3	1	329	1	0	0	0	0	1	0	0	0	11593	1087	38	1	1906	1	PCDHA12	5	140256961	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	27872	140256961	40658299	61	61037											
SH3TC2	79628	broad.mit.edu	37	chr5	148418028	148418028	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcctggctcataaccCgtcaaggccttacagcgtcc	7	12	7	15	2	3	0	2	0	1	0	5	0	4	0	4	2	3	1	4	2	3	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:148418028C>T	ENST00000515425.1	-	8	932	c.831G>A	c.(829-831)acG>acA	p.T277T	SH3TC2_ENST00000394358.2_Silent_p.T162T|SH3TC2_ENST00000512049.1_Silent_p.T270T|SH3TC2_ENST00000538184.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	277	SH3.						binding			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)			GCTCATAACCCGTCAAGGCCT	0.478													8	80					0	0	0	0	T	148418028	C	T	148418028	2	4	329	1	0	0	0	0	0	0	0	1	14350	639	23	1		1	SH3TC2	5	148418028	Silent	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	8161067	148418028	32497232	62	61038											
FAT2	2196	broad.mit.edu	37	chr5	150921911	150921911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagggtctttagagtcGccaccagttcgccaggctca	8	9	10	14	2	2	1	1	0	1	1	5	1	3	1	4	2	0	2	4	2	1	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:150921911G>A	ENST00000261800.5	-	9	8789	c.8777C>T	c.(8776-8778)gCg>gTg	p.A2926V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2926	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTAGAGTCGCCACCAGTTC	0.507													13	105					0	0	0	0	A	150921911	G	A	150921911	3	1	329	1	0	0	0	0	1	0	0	0	5735	1087	38	1	4332	1	FAT2	5	150921911	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	2503883	150921911	29993349	63	61039											
SERPINB9	5272	broad.mit.edu	37	chr6	2895698	2895698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgataaaggaaagctcCttcagctcagcatggtagaa	13	9	10	9	0	3	2	2	1	1	1	4	3	4	3	1	2	3	5	1	2	5	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:2895698C>A	ENST00000380698.4	-	4	440	c.351G>T	c.(349-351)aaG>aaT	p.K117N		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	117					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				AGGAAAGCTCCTTCAGCTCAG	0.423													9	28					2.17888e-05	2.26966e-05	1	0	A	2895698	C	A	2895698	3	1	329	1	0	0	0	0	1	0	0	0	14195	680	24	4	795	4	SERPINB9	6	2895698	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08		2895698	168219369	64	61040											
DSP	1832	broad.mit.edu	37	chr6	7580249	7580249	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctgaagaaaacgcccttCagcaaaaggcctgtggctct	12	7	11	11	1	2	2	1	1	1	1	2	3	2	2	2	2	3	3	2	2	5	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:7580249C>T	ENST00000379802.3	+	23	4167	c.3826C>T	c.(3826-3828)Cag>Tag	p.Q1276*	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1276	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAACGCCCTTCAGCAAAAGGC	0.512													13	88					0	0	0	0	T	7580249	C	T	7580249	4	4	329	1	0	0	0	0	0	1	0	0	4817	827	29	2	3916	2	DSP	6	7580249	Nonsense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	4684551	7580249	163534818	65	61041											
OR2B2	81697	broad.mit.edu	37	chr6	27879379	27879379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattagatgggagccacatGtcccaaatgcctttcgttga	11	11	9	10	1	0	2	0	1	0	1	2	3	1	3	3	1	2	1	3	1	3	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:27879379G>A	ENST00000303324.2	-	1	795	c.719C>T	c.(718-720)aCa>aTa	p.T240I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GGAGCCACATGTCCCAAATGC	0.458													8	55					0	0	0	0	A	27879379	G	A	27879379	3	1	329	1	0	0	0	0	1	0	0	0	11060	1377	48	4	358	4	OR2B2	6	27879379	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	20299130	27879379	143235688	66	61042											
OR2B2	81697	broad.mit.edu	37	chr6	27879548	27879548	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacacaggacaacttgagcaGagcagggacttcacagaaga	17	4	11	9	0	1	4	1	1	0	3	1	6	1	6	0	2	4	2	0	2	3	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:27879548G>C	ENST00000303324.2	-	1	626	c.550C>G	c.(550-552)Ctg>Gtg	p.L184V		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AACTTGAGCAGAGCAGGGACT	0.438													13	72					0	0	0	0	C	27879548	G	C	27879548	3	2	329	1	0	0	0	0	1	0	0	0	11060	933	33	2	527	2	OR2B2	6	27879548	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	169	27879548	143235519	67	61043											
TAP1	6890	broad.mit.edu	37	chr6	32813460	32813460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggatagcgcctccttccaGaaagaggatgtggtcagcct	9	8	12	12	2	1	2	1	0	0	2	3	4	3	4	5	3	2	0	5	3	2	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:32813460G>A	ENST00000354258.4	-	11	2484	c.2323C>T	c.(2323-2325)Ctg>Ttg	p.L775L	TAP1_ENST00000425148.2_Silent_p.L514L|XXbac-BPG246D15.8_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	775	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CCTCCTTCCAGAAAGAGGATG	0.612													12	54					0	0	0	0	A	32813460	G	A	32813460	2	1	329	1	0	0	0	0	0	0	0	1	15641	933	33	2		2	TAP1	6	32813460	Silent	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	4933912	32813460	138301607	68	61044											
UBR2	23304	broad.mit.edu	37	chr6	42583792	42583792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagtctgcttatggatttGaaatacaagaaactatttgc	14	13	8	6	0	1	2	0	1	1	1	1	3	1	3	0	1	5	2	0	1	6	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:42583792G>C	ENST00000372901.1	+	10	1404	c.1146G>C	c.(1144-1146)ttG>ttC	p.L382F	UBR2_ENST00000372899.1_Missense_Mutation_p.L382F|UBR2_ENST00000372903.2_Missense_Mutation_p.L382F			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	382					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTATGGATTTGAAATACAAGA	0.333													3	42					0	0	0	0	C	42583792	G	C	42583792	3	2	329	1	0	0	0	0	1	0	0	0	16998	1281	45	2	1184	2	UBR2	6	42583792	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	9770332	42583792	128531275	69	61045											
CNR1	1268	broad.mit.edu	37	chr6	88854078	88854078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgctgaatcatgcggaCggcgtggctgtgagccttcc	6	8	14	13	4	1	2	1	2	0	0	2	3	2	3	3	3	2	2	3	3	1	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:88854078C>T	ENST00000537554.1	-	2	4478	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	CNR1_ENST00000549716.1_Missense_Mutation_p.V245I|CNR1_ENST00000428600.2_Missense_Mutation_p.V306I|CNR1_ENST00000369499.2_Missense_Mutation_p.V306I|CNR1_ENST00000549890.1_Missense_Mutation_p.V306I|CNR1_ENST00000369501.2_Missense_Mutation_p.V306I|CNR1_ENST00000535130.1_Missense_Mutation_p.V306I|CNR1_ENST00000468898.1_Missense_Mutation_p.V273I|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	306					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ATCATGCGGACGGCGTGGCTG	0.547													13	81					0	0	0	0	T	88854078	C	T	88854078	3	4	329	1	0	0	0	0	1	0	0	0	3661	536	19	1	506	1	CNR1	6	88854078	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	46270286	88854078	82260989	70	61046											
ASCC3	10973	broad.mit.edu	37	chr6	101098482	101098482	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcggctgatataagtttGaagtaagatgtttattttcc	10	17	8	6	1	0	3	0	2	0	1	3	3	2	3	2	1	0	4	2	1	5	8			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:101098482G>A	ENST00000369162.2	-	20	3528	c.3184C>T	c.(3184-3186)Caa>Taa	p.Q1062*		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1062	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATATAAGTTTGAAGTAAGATG	0.368													6	21					0	0	0	0	A	101098482	G	A	101098482	4	1	329	1	0	0	0	0	0	1	0	0	1037	1299	45	2	3516	2	ASCC3	6	101098482	Nonsense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	12244404	101098482	70016585	71	61047											
SLC2A12	154091	broad.mit.edu	37	chr6	134350659	134350659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccttcttccatatctgtCtatcaggacccctccggtga	6	14	7	14	1	4	1	1	1	3	0	7	2	7	2	5	2	0	0	5	2	2	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:134350659C>T	ENST00000275230.5	-	2	459	c.304G>A	c.(304-306)Gac>Aac	p.D102N		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	102						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CCATATCTGTCTATCAGGACC	0.498													8	42					0	0	0	0	T	134350659	C	T	134350659	3	4	329	1	0	0	0	0	1	0	0	0	14629	913	32	2	1565	2	SLC2A12	6	134350659	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	33252177	134350659	36764408	72	61048											
RSPH3	83861	broad.mit.edu	37	chr6	159420575	159420575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgcgatcagtcagcgctGaggccatgtccgggggctga	7	7	17	10	3	2	2	2	2	0	0	3	3	3	2	2	4	2	2	2	4	0	0			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:159420575G>A	ENST00000367069.2	-	1	644	c.8C>T	c.(7-9)tCa>tTa	p.S3L	RSPH3_ENST00000449822.1_Missense_Mutation_p.S3L|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000252655.1_Missense_Mutation_p.S145L|RSPH3_ENST00000297262.3_Missense_Mutation_p.S145L			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	145										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AGTCAGCGCTGAGGCCATGTC	0.652													13	80					0	0	0	0	A	159420575	G	A	159420575	3	1	329	1	0	0	0	0	1	0	0	0	13790	1294	45	2	1280	2	RSPH3	6	159420575	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	25069916	159420575	11694492	73	61049											
MAP3K4	4216	broad.mit.edu	37	chr6	161527723	161527723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgaccttcaaatggcaaaGaggaaacaaaattggtaagg	17	7	12	5	0	1	2	1	1	0	1	1	3	1	3	1	5	1	2	1	5	6	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:161527723G>C	ENST00000392142.4	+	20	4182	c.4034G>C	c.(4033-4035)aGa>aCa	p.R1345T	MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1295T|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1291T|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1341T	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1345	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAATGGCAAAGAGGAAACAAA	0.373													3	24					0	0	0	0	C	161527723	G	C	161527723	3	2	329	1	0	0	0	0	1	0	0	0	9321	942	33	2	4112	2	MAP3K4	6	161527723	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	2107148	161527723	9587344	74	61050											
PGAM2	5224	broad.mit.edu	37	chr7	44104787	44104787	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtcgaaggagcgcctccaGatcttcacctgctcctcccc	7	9	8	17	2	2	1	1	0	1	1	6	3	5	2	6	1	2	1	6	1	1	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:44104787G>C	ENST00000297283.3	-	1	399	c.342C>G	c.(340-342)atC>atG	p.I114M	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	114				KI -> RS (in Ref. 3; AAA60072).	gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	p.I114I(1)		large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						AGCGCCTCCAGATCTTCACCT	0.627													9	48					0	0	0	0	C	44104787	G	C	44104787	3	2	329	1	0	0	0	0	1	0	0	0	11846	932	33	2	431	2	PGAM2	7	44104787	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08		44104787	115033876	75	61051											
ASL	435	broad.mit.edu	37	chr7	65557846	65557846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcactgcgcgctccagcGtcgactggcagatccgccag	6	5	14	16	6	0	1	0	0	0	1	3	2	2	1	3	2	2	3	3	2	0	0	rs139410488		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:65557846G>A	ENST00000304874.9	+	17	1444	c.1342G>A	c.(1342-1344)Gtc>Atc	p.V448I	ASL_ENST00000380839.4_Missense_Mutation_p.V422I|ASL_ENST00000395331.3_Missense_Mutation_p.V428I|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395332.3_Missense_Mutation_p.V448I|ASL_ENST00000464970.1_3'UTR	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	448					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GCGCTCCAGCGTCGACTGGCA	0.672													5	66					0	0	0	0	A	65557846	G	A	65557846	3	1	329	1	0	0	0	0	1	0	0	0	1048	1145	40	1	1404	1	ASL	7	65557846	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	21453059	65557846	93580817	76	61052											
ABCB4	5244	broad.mit.edu	37	chr7	87072993	87072993	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtaccttgacgttagctcGagaagggtaagaaaagtgaa	15	8	12	6	2	0	4	0	2	0	2	1	5	0	4	1	1	2	4	1	1	7	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:87072993G>A	ENST00000265723.4	-	11	1327	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	ABCB4_ENST00000359206.3_Nonsense_Mutation_p.R406*|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.R406*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.R406*|ABCB4_ENST00000358400.3_Nonsense_Mutation_p.R406*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	406	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ACGTTAGCTCGAGAAGGGTAA	0.333													3	18					0	0	0	0	A	87072993	G	A	87072993	4	1	329	1	0	0	0	0	0	1	0	0	43	1066	37	1	2716	1	ABCB4	7	87072993	Nonsense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	21515147	87072993	72065670	77	61053											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138764924	138764924	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaattcttggctgccctGaaagaaccgatctctactct	12	11	7	11	1	3	3	0	1	3	2	4	4	3	3	2	1	3	1	2	1	5	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:138764924G>A	ENST00000242351.5	-	4	1079	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	ZC3HAV1_ENST00000471652.1_Nonsense_Mutation_p.Q255*|ZC3HAV1_ENST00000464606.1_Nonsense_Mutation_p.Q255*	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	255					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGGCTGCCCTGAAAGAACCGA	0.483													12	162					0	0	0	0	A	138764924	G	A	138764924	4	1	329	1	0	0	0	0	0	1	0	0	17670	1299	45	2	1989	2	ZC3HAV1	7	138764924	Nonsense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	51691931	138764924	20373739	78	61054											
VIPR2	7434	broad.mit.edu	37	chr7	158824727	158824727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtagtggacgccgaacagcgGgataagcaggagcgtggact	11	5	17	8	4	0	0	0	0	0	0	0	5	0	4	1	4	4	2	1	4	3	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:158824727G>A	ENST00000262178.2	-	11	1188	c.1003C>T	c.(1003-1005)Ccg>Tcg	p.P335S	VIPR2_ENST00000402066.1_Missense_Mutation_p.P476S|VIPR2_ENST00000377633.3_Missense_Mutation_p.P319S	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	335					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCGAACAGCGGGATAAGCAGG	0.587													7	61					0	0	0	0	A	158824727	G	A	158824727	3	1	329	1	0	0	0	0	1	0	0	0	17266	1232	43	4	325	4	VIPR2	7	158824727	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	20059803	158824727	313936	79	61055											
MYOM2	9172	broad.mit.edu	37	chr8	2088645	2088645	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcctgttgctcttttcaaGagatgctaagatctcatcca	9	15	7	10	0	3	2	2	0	2	2	6	3	5	2	2	0	2	4	2	0	2	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:2088645G>A	ENST00000262113.4	+	33	3941		c.e33-1		MYOM2_ENST00000523438.1_Splice_Site	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTCTTTTCAAGAGATGCTAAG	0.483													8	32					0	0	0	0	A	2088645	G	A	2088645	5	1	329	1	0	0	0	0	0	0	1	0	10162	956	33	2	3926	2	MYOM2	8	2088645	Splice_Site	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08		2088645	144275377	80	61056											
BMP1	649	broad.mit.edu	37	chr8	22051684	22051684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggcttctttgcagtctacGaaggtactgaggaaggcggc	9	9	15	8	2	2	1	0	1	2	0	2	3	2	2	0	5	3	3	0	5	4	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:22051684G>A	ENST00000306385.5	+	10	1964	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	BMP1_ENST00000397816.3_Missense_Mutation_p.E432K|BMP1_ENST00000306349.8_Missense_Mutation_p.E432K|BMP1_ENST00000397814.3_Missense_Mutation_p.E432K|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	432	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGCAGTCTACGAAGGTACTGA	0.572													8	60					0	0	0	0	A	22051684	G	A	22051684	3	1	329	1	0	0	0	0	1	0	0	0	1461	1059	37	1	1332	1	BMP1	8	22051684	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	19963039	22051684	124312338	81	61057											
HMBOX1	79618	broad.mit.edu	37	chr8	28876293	28876293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggcgctacactaagtatGagaccagcccccattccaat	12	8	7	14	1	1	1	1	1	0	1	2	2	2	1	4	1	2	2	4	1	4	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:28876293G>A	ENST00000397358.3	+	7	1418	c.714G>A	c.(712-714)atG>atA	p.M238I	HMBOX1_ENST00000403668.2_Missense_Mutation_p.M238I|HMBOX1_ENST00000519047.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000355231.5_Missense_Mutation_p.M238I|HMBOX1_ENST00000287701.10_Missense_Mutation_p.M238I|HMBOX1_ENST00000558662.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000523613.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000524238.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000444075.1_Missense_Mutation_p.M238I	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	238					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.M238I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CACTAAGTATGAGACCAGCCC	0.453													3	48					0	0	0	0	A	28876293	G	A	28876293	3	1	329	1	0	0	0	0	1	0	0	0	7268	1290	45	2	732	2	HMBOX1	8	28876293	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	6824609	28876293	117487729	82	61058											
ADAM2	2515	broad.mit.edu	37	chr8	39645740	39645740	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaagctccaatgaagacaGaataattgtaatattaaatg	19	10	6	6	0	0	3	0	1	0	2	1	3	1	3	2	0	1	2	2	0	9	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:39645740G>C	ENST00000265708.4	-	9	776	c.673C>G	c.(673-675)Ctg>Gtg	p.L225V	ADAM2_ENST00000347580.4_Missense_Mutation_p.L206V|ADAM2_ENST00000521880.1_Missense_Mutation_p.L225V|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	225	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AATGAAGACAGAATAATTGTA	0.259													3	22					0	0	0	0	C	39645740	G	C	39645740	3	2	329	1	0	0	0	0	1	0	0	0	241	933	33	2	1582	2	ADAM2	8	39645740	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	10769447	39645740	106718282	83	61059											
ADAM2	2515	broad.mit.edu	37	chr8	39695695	39695695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgagcagaaacaagaCgcgccacatggcttgaagtc	12	5	11	13	3	0	4	0	2	0	2	1	4	0	4	2	1	2	3	2	1	3	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:39695695C>T	ENST00000265708.4	-	1	113	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	ADAM2_ENST00000347580.4_Missense_Mutation_p.V4I|ADAM2_ENST00000521880.1_Missense_Mutation_p.V4I|ADAM2_ENST00000379853.2_Missense_Mutation_p.V4I|ADAM2_ENST00000523181.1_5'UTR	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	4					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGAAACAAGACGCGCCACATG	0.612													7	42					0	0	0	0	T	39695695	C	T	39695695	3	4	329	1	0	0	0	0	1	0	0	0	241	536	19	1	2277	1	ADAM2	8	39695695	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	49955	39695695	106668327	84	61060											
ST18	9705	broad.mit.edu	37	chr8	53062469	53062469	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttaggggtgcagacttGtccaggattcgatttttttt	8	16	12	5	1	0	1	0	0	0	1	2	4	1	2	1	3	1	2	1	3	2	7			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:53062469G>A	ENST00000276480.7	-	16	2558	c.1875C>T	c.(1873-1875)gaC>gaT	p.D625D		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	625						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTGCAGACTTGTCCAGGATTC	0.408													7	48					0	0	0	0	A	53062469	G	A	53062469	2	1	329	1	0	0	0	0	0	0	0	1	15302	1368	48	4		4	ST18	8	53062469	Silent	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	13366774	53062469	93301553	85	61061											
NBN	4683	broad.mit.edu	37	chr8	90976656	90976656	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgtactgggatggccctGaggatcacagtaattctttg	9	12	11	9	0	2	1	1	1	1	0	2	3	2	3	2	3	1	2	2	3	2	4	rs121908973		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:90976656G>C	ENST00000265433.3	-	8	1130	c.976C>G	c.(976-978)Cag>Gag	p.Q326E	NBN_ENST00000409330.1_Missense_Mutation_p.Q244E	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	326					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GGATGGCCCTGAGGATCACAG	0.333								Homologous recombination					4	35					0	0	0	0	C	90976656	G	C	90976656	3	2	329	1	0	0	0	0	1	0	0	0	10261	1299	45	2	1324	2	NBN	8	90976656	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	37914187	90976656	55387366	86	61062											
SNX31	169166	broad.mit.edu	37	chr8	101629873	101629873	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggactctttcagcagtgtctGatgttataatttcgattcta	9	17	8	7	1	4	1	1	1	3	0	5	3	4	2	0	1	1	2	0	1	3	6			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:101629873G>C	ENST00000311812.2	-	5	557	c.407C>G	c.(406-408)tCa>tGa	p.S136*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.S37*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	136					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGCAGTGTCTGATGTTATAAT	0.388													6	40					0	0	0	0	C	101629873	G	C	101629873	4	2	329	1	0	0	0	0	0	1	0	0	14989	1294	45	2	955	2	SNX31	8	101629873	Nonsense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	10653217	101629873	44734149	87	61063											
MTBP	27085	broad.mit.edu	37	chr8	121528317	121528317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttccatctcctgtagtttCgtcagatcctggaagtgtcc	6	15	8	12	1	3	1	1	0	2	1	8	2	6	2	4	1	0	2	4	1	2	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:121528317C>T	ENST00000305949.1	+	18	2177	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	711	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CCTGTAGTTTCGTCAGATCCT	0.428													3	50					0	0	0	0	T	121528317	C	T	121528317	3	4	329	1	0	0	0	0	1	0	0	0	9982	893	31	1	2202	1	MTBP	8	121528317	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	19898444	121528317	24835705	88	61064											
MYC	4609	broad.mit.edu	37	chr8	128750924	128750924	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgtatgtggagcggcttctCggccgccgccaagctcgtct	4	10	13	14	5	2	0	0	0	2	0	4	1	2	1	3	3	2	3	3	3	2	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:128750924C>G	ENST00000377970.2	+	2	971	c.461C>G	c.(460-462)tCg>tGg	p.S154W	MYC_ENST00000524013.1_Missense_Mutation_p.S153W|MYC_ENST00000259523.6_Missense_Mutation_p.S139W	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	139					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AGCGGCTTCTCGGCCGCCGCC	0.622		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	34					0	0	0	0	G	128750924	C	G	128750924	3	3	329	1	0	0	0	0	1	0	0	0	10086	893	31	3	467	3	MYC	8	128750924	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	7222607	128750924	17613098	89	61065											
VLDLR	7436	broad.mit.edu	37	chr9	2643851	2643851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtagtcaatcagtgcttgGgccctggaaaattcaagtgc	10	12	11	8	0	3	0	3	0	0	0	3	1	3	1	1	2	2	2	1	2	5	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:2643851G>C	ENST00000382100.2	+	7	1314	c.958G>C	c.(958-960)Ggc>Cgc	p.G320R	VLDLR_ENST00000382099.2_Missense_Mutation_p.G320R	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	320	LDL-receptor class A 8.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TCAGTGCTTGGGCCCTGGAAA	0.458													13	78					0	0	0	0	C	2643851	G	C	2643851	3	2	329	1	0	0	0	0	1	0	0	0	17270	1232	43	4	984	4	VLDLR	9	2643851	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08		2643851	138569580	90	61066											
FREM1	158326	broad.mit.edu	37	chr9	14824903	14824903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttagttatataggccacctCagtttccttgacaaccaaat	12	13	5	11	0	1	1	1	1	0	0	2	1	2	1	4	1	1	2	4	1	6	6			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:14824903C>T	ENST00000380881.4	-	12	2787	c.1972G>A	c.(1972-1974)Gag>Aag	p.E658K	FREM1_ENST00000380880.3_Missense_Mutation_p.E657K|FREM1_ENST00000422223.2_Missense_Mutation_p.E657K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	657					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TAGGCCACCTCAGTTTCCTTG	0.408													3	16					0	0	0	0	T	14824903	C	T	14824903	3	4	329	1	0	0	0	0	1	0	0	0	6092	835	29	2	4728	2	FREM1	9	14824903	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	12181052	14824903	126388528	91	61067											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	23					0	0	0	0	A	21971120	G	A	21971120	4	1	329	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	7146217	21971120	119242311	92	61068											
DDX58	23586	broad.mit.edu	37	chr9	32472994	32472994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttctgatttgttttgcCacgtccagtcaatatgccag	7	16	9	9	1	2	1	1	1	1	0	3	1	3	1	3	0	2	2	3	0	2	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:32472994C>T	ENST00000379882.1	-	13	2015	c.1858G>A	c.(1858-1860)Ggc>Agc	p.G620S	DDX58_ENST00000542096.1_Missense_Mutation_p.G594S|DDX58_ENST00000379883.2_Missense_Mutation_p.G665S|DDX58_ENST00000379868.1_Missense_Mutation_p.G462S|DDX58_ENST00000545044.1_Missense_Mutation_p.G462S			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	665	Helicase C-terminal.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTTGTTTTGCCACGTCCAGTC	0.318													4	25					0	0	0	0	T	32472994	C	T	32472994	3	4	329	1	0	0	0	0	1	0	0	0	4407	594	21	4	804	4	DDX58	9	32472994	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	10501874	32472994	108740437	93	61069											
GNE	10020	broad.mit.edu	37	chr9	36234070	36234070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggacgtgtttaactgcacGaaagttgggatgatgctcaa	11	11	13	6	2	1	1	1	1	0	0	1	4	1	3	0	2	3	4	0	2	3	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:36234070G>A	ENST00000396594.3	-	5	1033	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	GNE_ENST00000539208.1_Missense_Mutation_p.R167C|GNE_ENST00000543356.2_Missense_Mutation_p.R272C|GNE_ENST00000539815.1_Missense_Mutation_p.R277C|GNE_ENST00000447283.2_Missense_Mutation_p.R277C|GNE_ENST00000377902.5_Missense_Mutation_p.R277C	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	277					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TTAACTGCACGAAAGTTGGGA	0.463													14	84					0	0	0	0	A	36234070	G	A	36234070	3	1	329	1	0	0	0	0	1	0	0	0	6573	1058	37	1	1371	1	GNE	9	36234070	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	3761076	36234070	104979361	94	61070											
GRIN3A	116443	broad.mit.edu	37	chr9	104499919	104499919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcctccgccctggcgccctCcccgggcttacgggagcccg	2	5	14	20	5	0	0	0	0	0	0	2	1	2	1	7	4	2	1	7	4	1	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:104499919C>T	ENST00000361820.3	-	1	943	c.343G>A	c.(343-345)Gag>Aag	p.E115K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	115					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTGGCGCCCTCCCCGGGCTTA	0.726													6	32					0	0	0	0	T	104499919	C	T	104499919	3	4	329	1	0	0	0	0	1	0	0	0	6833	864	30	2	3040	2	GRIN3A	9	104499919	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	68265849	104499919	36713512	95	61071											
OR13C8	138802	broad.mit.edu	37	chr9	107331475	107331475	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggaccaacgattccacgtcGacagaatttttcctggtagg	11	10	10	10	3	0	1	0	0	0	1	3	4	2	2	3	3	1	1	3	3	3	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:107331475G>C	ENST00000335040.1	+	1	27	c.27G>C	c.(25-27)tcG>tcC	p.S9S		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATTCCACGTCGACAGAATTTT	0.418													11	71					0	0	0	0	C	107331475	G	C	107331475	2	2	329	1	0	0	0	0	0	0	0	1	11009	1045	37	3		3	OR13C8	9	107331475	Silent	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	2831556	107331475	33881956	96	61072											
GOLGA2	2801	broad.mit.edu	37	chr9	131021583	131021583	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctcagaggtcagctgctGataggcggccacatactgct	8	10	11	12	1	2	2	2	1	1	1	3	2	2	2	1	3	4	3	1	3	2	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:131021583G>A	ENST00000421699.2	-	19	1891	c.1879C>T	c.(1879-1881)Cag>Tag	p.Q627*		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	627						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTCAGCTGCTGATAGGCGGCC	0.587													3	25					0	0	0	0	A	131021583	G	A	131021583	4	1	329	1	0	0	0	0	0	1	0	0	6603	1299	45	2	1161	2	GOLGA2	9	131021583	Nonsense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	23690108	131021583	10191848	97	61073											
NOTCH1	4851	broad.mit.edu	37	chr9	139410437	139410437	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgccagcccgcaccttcCgtgcacacacaggtgtaagt	8	6	12	15	3	0	0	0	0	0	0	1	0	1	0	4	2	2	3	4	2	1	2	rs148331061	by1000genomes	TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:139410437C>T	ENST00000277541.6	-	10	1740	c.1665G>A	c.(1663-1665)acG>acA	p.T555T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	555	EGF-like 14; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCGCACCTTCCGTGCACACAC	0.632			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			3	42					0	0	0	0	T	139410437	C	T	139410437	2	4	329	1	0	0	0	0	0	0	0	1	10617	639	23	1		1	NOTCH1	9	139410437	Silent	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	8388854	139410437	1802994	98	61074											
TRDMT1	1787	broad.mit.edu	37	chr10	17199505	17199505	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaacagaagagcatatcgCagcaatgactttggtggtaa	14	10	10	7	1	1	3	0	1	1	2	2	3	1	3	0	2	3	4	0	2	5	4	rs145913291		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:17199505C>T	ENST00000377799.3	-	8	869	c.822G>A	c.(820-822)ctG>ctA	p.L274L	TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000412821.3_Silent_p.L250L|TRDMT1_ENST00000488990.1_Silent_p.L151L|TRDMT1_ENST00000457442.2_Silent_p.L193L|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000351358.4_Silent_p.L228L	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	274					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						GAGCATATCGCAGCAATGACT	0.383													3	34					0	0	0	0	T	17199505	C	T	17199505	2	4	329	1	0	0	0	0	0	0	0	1	16562	697	25	4		4	TRDMT1	10	17199505	Silent	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08		17199505	118335242	99	61075											
PCDH15	65217	broad.mit.edu	37	chr10	56077040	56077040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatatttaccggagttctCaactcaggtatggcagcttg	10	13	10	8	1	2	0	2	0	1	0	3	1	2	1	1	3	3	5	1	3	5	7			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:56077040C>T	ENST00000373965.2	-	8	1261	c.867G>A	c.(865-867)ttG>ttA	p.L289L	PCDH15_ENST00000395440.1_Silent_p.L289L|PCDH15_ENST00000395430.1_Silent_p.L289L|PCDH15_ENST00000395432.2_Silent_p.L252L|PCDH15_ENST00000395438.1_Silent_p.L289L|PCDH15_ENST00000373955.1_Silent_p.L289L|PCDH15_ENST00000395446.1_Silent_p.L289L|PCDH15_ENST00000320301.6_Silent_p.L289L|PCDH15_ENST00000395445.1_Silent_p.L289L|PCDH15_ENST00000437009.1_Silent_p.L289L|PCDH15_ENST00000373957.3_Silent_p.L267L|PCDH15_ENST00000395442.1_Silent_p.L289L|PCDH15_ENST00000361849.3_Silent_p.L289L|PCDH15_ENST00000395433.1_Silent_p.L267L|PCDH15_ENST00000414778.1_Silent_p.L294L|PCDH15_ENST00000409834.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	289	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCGGAGTTCTCAACTCAGGTA	0.383										HNSCC(58;0.16)			7	33					0	0	0	0	T	56077040	C	T	56077040	2	4	329	1	0	0	0	0	0	0	0	1	11582	825	29	2		2	PCDH15	10	56077040	Silent	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	38877535	56077040	79457707	100	61076											
SFTPA2	729238	broad.mit.edu	37	chr10	81317043	81317043	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgtacatctccacacaCtgctcttttccccgacctgc	6	13	5	17	1	3	0	0	0	3	0	5	1	4	0	4	0	3	2	4	0	1	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:81317043C>G	ENST00000372325.2	-	6	753	c.669G>C	c.(667-669)caG>caC	p.Q223H	SFTPA2_ENST00000372327.5_Missense_Mutation_p.Q223H	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	223	C-type lectin.		Q -> K (in allele 1A(1), allele 1A(3) and allele 1A(4); dbSNP:rs1965708).		cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCTCCACACACTGCTCTTTTC	0.562									Pulmonary Fibrosis, Idiopathic				22	200					0	0	0	0	G	81317043	C	G	81317043	3	3	329	1	0	0	0	0	1	0	0	0	14277	564	20	4	81	4	SFTPA2	10	81317043	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	25240003	81317043	54217704	101	61077											
KIF20B	9585	broad.mit.edu	37	chr10	91470852	91470852	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaggttatcatcagaacaaGagaaagaagaaattgctagc	19	8	9	5	0	2	4	2	0	0	4	2	5	2	4	0	1	3	2	0	1	8	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:91470852G>C	ENST00000416354.1	+	6	697	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	KIF20B_ENST00000260753.4_Missense_Mutation_p.E209Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.E209Q|KIF20B_ENST00000371728.3_Missense_Mutation_p.E209Q			Q96Q89	KI20B_HUMAN	kinesin family member 20B	209	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATCAGAACAAGAGAAAGAAGA	0.299													3	17					0	0	0	0	C	91470852	G	C	91470852	3	2	329	1	0	0	0	0	1	0	0	0	8338	943	33	2	643	2	KIF20B	10	91470852	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	10153809	91470852	44063895	102	61078											
AFAP1L2	84632	broad.mit.edu	37	chr10	116067583	116067583	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggatgtctcgagggacctCtccacaggctccagtgaggt	7	9	13	12	1	2	1	0	1	2	0	5	4	3	3	3	4	0	1	3	4	0	0			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:116067583C>G	ENST00000369271.3	-	10	1353	c.1053G>C	c.(1051-1053)gaG>gaC	p.E351D	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.E351D|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.E404D	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	351					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CGAGGGACCTCTCCACAGGCT	0.527													4	32					0	0	0	0	G	116067583	C	G	116067583	3	3	329	1	0	0	0	0	1	0	0	0	355	912	32	2	1443	2	AFAP1L2	10	116067583	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	24596731	116067583	19467164	103	61079			1	91		2	2	12	C		5.933921e-05
AFAP1L2	84632	broad.mit.edu	37	chr10	116067594	116067594	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagggacctctccacaggctCcagtgaggtggatttcttcc	7	10	12	12	0	2	1	0	1	2	0	5	4	4	3	4	4	0	1	4	4	0	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:116067594C>A	ENST00000369271.3	-	10	1342	c.1042G>T	c.(1042-1044)Gag>Tag	p.E348*	AFAP1L2_ENST00000304129.4_Nonsense_Mutation_p.E348*|AFAP1L2_ENST00000545353.1_Nonsense_Mutation_p.E401*	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	348					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TCCACAGGCTCCAGTGAGGTG	0.512													4	35					0.00909568	0.0093289	1	0	A	116067594	C	A	116067594	4	1	329	1	0	0	0	0	0	1	0	0	355	864	30	2	1454	2	AFAP1L2	10	116067594	Nonsense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	11	116067594	19467153	104	61080			1	91		2	2	12	C		5.933921e-05
C10orf137	26098	broad.mit.edu	37	chr10	127408404	127408404	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atgccaaggaggccggagccGagggtccgccggccggggcc	6	2	19	14	5	0	0	0	0	0	0	1	3	1	2	7	7	2	0	7	7	1	0			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:127408404G>C	ENST00000337623.3	+	1	133	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	C10orf137_ENST00000356792.4_Missense_Mutation_p.E10Q	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGCCGGAGCCGAGGGTCCGCC	0.697													5	22					0	0	0	0	C	127408404	G	C	127408404	3	2	329	1	0	0	0	0	1	0	0	0	1604	1059	37	3	30	3	C10orf137	10	127408404	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	11340810	127408404	8126343	105	61081											
FAM196A	642938	broad.mit.edu	37	chr10	128974117	128974117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggctggtccactgtgttCatgtgttggttggaatggaa	9	13	14	5	0	1	0	1	0	0	0	2	2	2	2	1	5	0	4	1	5	3	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:128974117C>T	ENST00000522781.1	-	4	1098	c.543G>A	c.(541-543)atG>atA	p.M181I	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.M181I	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	181										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCACTGTGTTCATGTGTTGGT	0.597													12	95					0	0	0	0	T	128974117	C	T	128974117	3	4	329	1	0	0	0	0	1	0	0	0	5571	826	29	2	908	2	FAM196A	10	128974117	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	1565713	128974117	6560630	106	61082											
GPR123	84435	broad.mit.edu	37	chr10	134898352	134898352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcccacctggctgcagcgggGagctgagcctccctgaggag	6	5	16	14	1	0	2	0	2	0	0	1	4	1	4	4	4	4	3	4	4	0	0			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:134898352G>C	ENST00000607359.1	+	8	1414	c.1414G>C	c.(1414-1416)Gag>Cag	p.E472Q				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	220						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTGCAGCGGGGAGCTGAGCCT	0.647													4	35					0	0	0	0	C	134898352	G	C	134898352	3	2	329	1	0	0	0	0	1	0	0	0	6686	1189	41	2		2	GPR123	10	134898352	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	5924235	134898352	636395	107	61083											
CHID1	66005	broad.mit.edu	37	chr11	870480	870480	+	Missense_Mutation	SNP	C	C	T																															caccatccggggcctgtggtCcttcagtgtctggatgtacc																										TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:870480C>T	ENST00000449825.1	-	11	1335	c.979G>A	c.(979-981)Gac>Aac	p.D327N	CHID1_ENST00000528581.1_Missense_Mutation_p.D352N|CHID1_ENST00000323541.7_Missense_Mutation_p.D357N|CHID1_ENST00000454838.2_Missense_Mutation_p.D352N|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323578.8_Missense_Mutation_p.D327N|CHID1_ENST00000336845.5_Missense_Mutation_p.D352N|CHID1_ENST00000436108.2_Missense_Mutation_p.D327N|CHID1_ENST00000429789.2_Missense_Mutation_p.D296N	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	327					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		GGCCTGTGGTCCTTCAGTGTC	0.597													4	10					0	0	0	0	T	870480	C	T	870480	3	4	329	1	0	0	0	0	1	0	0	0	3374	855	30	2	214	2	CHID1	11	870480	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08		870480	134136036	108	61084	735	2									
CHID1	66005	broad.mit.edu	37	chr11	870490	870490	+	Splice_Site	SNP	C	C	T																															ggcctgtggtccttcagtgtCtggatgtacctggggagacc																										TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:870490C>T	ENST00000526714.1	-	9	905		c.e9-1		CHID1_ENST00000528581.1_Silent_p.Q348Q|CHID1_ENST00000323541.7_Silent_p.Q353Q|CHID1_ENST00000454838.2_Silent_p.Q348Q|CHID1_ENST00000449825.1_Silent_p.Q323Q|CHID1_ENST00000323578.8_Silent_p.Q323Q|CHID1_ENST00000336845.5_Silent_p.Q348Q|CHID1_ENST00000436108.2_Silent_p.Q323Q|CHID1_ENST00000429789.2_Silent_p.Q292Q			Q9BWS9	CHID1_HUMAN	chitinase domain containing 1						chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCTTCAGTGTCTGGATGTACC	0.607													4	10					0	0	0	0	T	870490	C	T	870490	5	4	329	1	0	0	0	0	0	0	1	0	3374	912	32	2	224	2	CHID1	11	870490	Splice_Site	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	10	870490	134136026	109	61085	735	2									
OR51D1	390038	broad.mit.edu	37	chr11	4661698	4661698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggtgtggactctctcttCattggcttctcatatatcct	6	17	8	10	0	4	0	2	0	3	0	7	1	5	1	1	3	0	1	1	3	2	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:4661698C>T	ENST00000357605.2	+	1	754	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTCTCTCTTCATTGGCTTCT	0.498													14	76					0	0	0	0	T	4661698	C	T	4661698	2	4	329	1	0	0	0	0	0	0	0	1	11164	825	29	2		2	OR51D1	11	4661698	Silent	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	3791208	4661698	130344818	110	61086											
USH1C	10083	broad.mit.edu	37	chr11	17544352	17544352	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctccatctcctgctgcTcctggaggatcttgttggac	4	12	11	14	1	2	0	0	0	2	0	5	3	4	3	4	3	2	4	4	3	0	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:17544352T>C	ENST00000005226.7	-	12	997	c.998A>G	c.(997-999)gAg>gGg	p.E333G	USH1C_ENST00000527020.1_Missense_Mutation_p.E314G|USH1C_ENST00000318024.4_Missense_Mutation_p.E333G|USH1C_ENST00000527720.1_Missense_Mutation_p.E302G	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	333					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTCCTGCTGCTCCTGGAGGAT	0.677													9	56					0	0	0	0	C	17544352	T	C	17544352	3	2	329	1	0	0	0	0	1	0	0	0	17130	1551	54	5	1843	5	USH1C	11	17544352	Missense_Mutation	SNP	T	TCGA-CV-A45O-01A-21D-A24D-08	12882654	17544352	117462164	111	61087											
HARBI1	283254	broad.mit.edu	37	chr11	46637290	46637290	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgcaggccttttcggttCacataggagaggtcttcagc	9	11	12	9	1	3	1	2	0	1	1	4	3	3	1	1	4	2	2	1	4	2	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:46637290C>T	ENST00000326737.3	-	2	745	c.498G>A	c.(496-498)gtG>gtA	p.V166V		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	166						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CTTTTCGGTTCACATAGGAGA	0.517													31	157					0	0	0	0	T	46637290	C	T	46637290	2	4	329	1	0	0	0	0	0	0	0	1	7008	813	29	2		2	HARBI1	11	46637290	Silent	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	29092938	46637290	88369226	112	61088											
OR5D18	219438	broad.mit.edu	37	chr11	55587580	55587580	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggagtctcatgttccttgGaactgacgtgctctgcttta	6	14	12	9	1	2	1	1	1	2	0	4	3	3	3	1	3	3	3	1	3	2	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:55587580G>T	ENST00000333976.4	+	1	495	c.475G>T	c.(475-477)Gaa>Taa	p.E159*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ATGTTCCTTGGAACTGACGTG	0.468													17	93					1.99824e-07	2.10341e-07	1	0	T	55587580	G	T	55587580	4	4	329	1	0	0	0	0	0	1	0	0	11228	1175	41	2	477	2	OR5D18	11	55587580	Nonsense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	8950290	55587580	79418936	113	61089											
FAM111A	63901	broad.mit.edu	37	chr11	58919996	58919996	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcagaatcctgagtcagaGaaaagaaacacctgtgtgtt	14	10	9	8	0	2	4	2	1	1	3	4	5	3	4	2	0	1	1	2	0	4	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:58919996G>A	ENST00000528737.1	+	5	3673	c.855G>A	c.(853-855)gaG>gaA	p.E285E	FAM111A_ENST00000361723.3_Silent_p.E285E|FAM111A_ENST00000531147.1_Silent_p.E285E|FAM111A_ENST00000533703.1_Silent_p.E285E|FAM111A_ENST00000420244.1_Silent_p.E285E			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	285					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CTGAGTCAGAGAAAAGAAACA	0.413													6	32					0	0	0	0	A	58919996	G	A	58919996	2	1	329	1	0	0	0	0	0	0	0	1	5440	933	33	2		2	FAM111A	11	58919996	Silent	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	3332416	58919996	76086520	114	61090											
PDE2A	5138	broad.mit.edu	37	chr11	72296611	72296611	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactcacccaggtgggtgaaGaggttctttgccacttggag	8	10	13	10	0	2	2	1	1	1	1	2	3	2	3	2	4	1	1	2	4	1	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:72296611G>C	ENST00000334456.5	-	15	1454	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L	PDE2A_ENST00000540345.1_Silent_p.L394L|PDE2A_ENST00000544570.1_Silent_p.L396L|PDE2A_ENST00000418754.2_Silent_p.L288L|PDE2A_ENST00000376450.3_Silent_p.L147L|PDE2A_ENST00000444035.2_Silent_p.L394L|RP11-169D4.2_ENST00000545254.1_RNA	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	403					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GGTGGGTGAAGAGGTTCTTTG	0.592											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	16					0	0	0	0	C	72296611	G	C	72296611	2	2	329	1	0	0	0	0	0	0	0	1	11707	929	33	2		2	PDE2A	11	72296611	Silent	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	13376615	72296611	62709905	115	61091											
DLG2	1740	broad.mit.edu	37	chr11	84027938	84027938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctttgcccttggtgctcGtcttgtgggggcttttccgc	0	16	12	13	2	1	0	0	0	1	0	4	0	3	0	3	3	2	2	3	3	0	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:84027938G>A	ENST00000280241.8	-	1	250	c.251C>T	c.(250-252)aCg>aTg	p.T84M	DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.T84M|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTTGGTGCTCGTCTTGTGGGG	0.582													14	54					0	0	0	0	A	84027938	G	A	84027938	3	1	329	1	0	0	0	0	1	0	0	0	4592	1160	40	1		1	DLG2	11	84027938	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	11731327	84027938	50978578	116	61092											
FBXL14	144699	broad.mit.edu	37	chr12	1702577	1702577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgggagatgtgctttagaGaaagatctgtgagcttctgg	9	12	14	6	1	2	4	0	1	2	3	3	6	2	4	0	2	2	2	0	2	2	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:1702577G>A	ENST00000339235.3	-	1	754	c.656C>T	c.(655-657)tCt>tTt	p.S219F	WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	219						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			GTGCTTTAGAGAAAGATCTGT	0.652													8	35					0	0	0	0	A	1702577	G	A	1702577	3	1	329	1	0	0	0	0	1	0	0	0	5755	942	33	2	608	2	FBXL14	12	1702577	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08		1702577	132149318	117	61093											
CACNA2D4	93589	broad.mit.edu	37	chr12	1949979	1949979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccaccatgggttcacccGcactttctggggaaacagag	10	8	10	13	1	3	1	2	0	1	1	3	2	3	2	3	3	1	2	3	3	1	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:1949979G>A	ENST00000382722.5	-	26	2839	c.2477C>T	c.(2476-2478)gCg>gTg	p.A826V	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A826V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A687V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A762V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A762V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A801V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	826						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGGTTCACCCGCACTTTCTGG	0.562													11	55					0	0	0	0	A	1949979	G	A	1949979	3	1	329	1	0	0	0	0	1	0	0	0	2576	1087	38	1	988	1	CACNA2D4	12	1949979	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	247402	1949979	131901916	118	61094											
GAPDH	2597	broad.mit.edu	37	chr12	6646891	6646891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgggcaaggtcatccctGagctgaacgggaagctcact	9	8	13	11	1	2	2	2	2	0	0	3	3	3	3	1	3	3	3	1	3	3	0			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:6646891G>A	ENST00000229239.5	+	8	1333	c.667G>A	c.(667-669)Gag>Aag	p.E223K	GAPDH_ENST00000396861.1_Missense_Mutation_p.E223K|GAPDH_ENST00000396859.1_Missense_Mutation_p.E223K|GAPDH_ENST00000396856.1_Missense_Mutation_p.E148K|GAPDH_ENST00000396858.1_Missense_Mutation_p.E181K	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	223					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	GGTCATCCCTGAGCTGAACGG	0.607											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	44					0	0	0	0	A	6646891	G	A	6646891	3	1	329	1	0	0	0	0	1	0	0	0	6285	1291	45	2	693	2	GAPDH	12	6646891	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	4696912	6646891	127205004	119	61095											
GUCY2C	2984	broad.mit.edu	37	chr12	14822685	14822685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatatcattaggaagtttaGagttcttccaagtgaatgtg	13	15	9	4	0	2	2	1	1	1	1	3	3	3	3	1	1	0	2	1	1	7	7			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:14822685G>A	ENST00000261170.3	-	10	1389	c.1253C>T	c.(1252-1254)tCt>tTt	p.S418F	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	418					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGGAAGTTTAGAGTTCTTCCA	0.398													3	26					0	0	0	0	A	14822685	G	A	14822685	3	1	329	1	0	0	0	0	1	0	0	0	6946	942	33	2	2040	2	GUCY2C	12	14822685	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	8175794	14822685	119029210	120	61096											
MON2	23041	broad.mit.edu	37	chr12	62943490	62943490	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtgtcttcagttggtTgtgacagattttctaccaac	8	16	8	9	0	3	2	1	1	2	1	4	2	4	2	2	1	2	2	2	1	2	7			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:62943490T>C	ENST00000393630.3	+	24	3190	c.2799T>C	c.(2797-2799)gtT>gtC	p.V933V	MON2_ENST00000393632.2_Silent_p.V932V|MON2_ENST00000280379.6_Silent_p.V933V|MON2_ENST00000552738.1_Silent_p.V909V|MON2_ENST00000546600.1_Silent_p.V932V|MON2_ENST00000552115.1_Silent_p.V932V|MON2_ENST00000393629.2_Silent_p.V932V	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	933					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTCAGTTGGTTGTGACAGATT	0.343													11	36					0	0	0	0	C	62943490	T	C	62943490	2	2	329	1	0	0	0	0	0	0	0	1	9770	1799	63	5		5	MON2	12	62943490	Silent	SNP	T	TCGA-CV-A45O-01A-21D-A24D-08	48120805	62943490	70908405	121	61097											
IL22	50616	broad.mit.edu	37	chr12	68646582	68646582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctccccaatgagacgaaCgtctgtgttgttatcagcca	9	13	8	11	2	3	1	1	1	2	1	4	3	3	1	3	0	2	2	3	0	3	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:68646582C>T	ENST00000538666.1	-	3	284	c.214G>A	c.(214-216)Gtt>Att	p.V72I	IL22_ENST00000328087.4_Missense_Mutation_p.V72I			Q9GZX6	IL22_HUMAN	interleukin 22	72					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ATGAGACGAACGTCTGTGTTG	0.473													7	59					0	0	0	0	T	68646582	C	T	68646582	3	4	329	1	0	0	0	0	1	0	0	0	7725	536	19	1	341	1	IL22	12	68646582	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	5703092	68646582	65205313	122	61098											
KNTC1	9735	broad.mit.edu	37	chr12	123097728	123097728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtctcttctatttggctGacaaggaaactatagaatct	12	14	8	7	0	3	2	0	1	3	1	4	3	3	3	0	2	1	1	0	2	6	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:123097728G>A	ENST00000333479.7	+	54	5869	c.5692G>A	c.(5692-5694)Gac>Aac	p.D1898N	KNTC1_ENST00000450485.2_Missense_Mutation_p.D823N|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Missense_Mutation_p.D323N	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1898					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTATTTGGCTGACAAGGAAAC	0.333													6	38					0	0	0	0	A	123097728	G	A	123097728	3	1	329	1	0	0	0	0	1	0	0	0	8480	1290	45	2	5902	2	KNTC1	12	123097728	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	54451146	123097728	10754167	123	61099											
ATP8A2	51761	broad.mit.edu	37	chr13	26535778	26535778	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggttcctactgcctgtttGattgaagatgtggcatggag	7	14	13	7	0	0	3	0	2	0	1	1	4	1	4	2	3	2	3	2	3	2	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr13:26535778G>A	ENST00000381655.2	+	34	3391	c.3249G>A	c.(3247-3249)ttG>ttA	p.L1083L	ATP8A2_ENST00000255283.8_Silent_p.L1018L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1043					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTGCCTGTTTGATTGAAGATG	0.468													9	71					0	0	0	0	A	26535778	G	A	26535778	2	1	329	1	0	0	0	0	0	0	0	1	1197	1281	45	2		2	ATP8A2	13	26535778	Silent	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08		26535778	88634100	124	61100											
TDRD3	81550	broad.mit.edu	37	chr13	61059979	61059979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcagagaacttgatcgaaGaaaaacattgcaagttacaa	19	8	8	6	1	0	3	0	1	0	2	1	5	0	3	0	0	5	3	0	0	8	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr13:61059979G>A	ENST00000196169.3	+	7	1123	c.335G>A	c.(334-336)aGa>aAa	p.R112K	TDRD3_ENST00000535286.1_Missense_Mutation_p.R205K|TDRD3_ENST00000377894.2_Missense_Mutation_p.R112K|TDRD3_ENST00000377881.2_Missense_Mutation_p.R112K	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	112					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CTTGATCGAAGAAAAACATTG	0.363													3	11					0	0	0	0	A	61059979	G	A	61059979	3	1	329	1	0	0	0	0	1	0	0	0	15826	942	33	2	640	2	TDRD3	13	61059979	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	34524201	61059979	54109899	125	61101											
SLITRK6	84189	broad.mit.edu	37	chr13	86369739	86369739	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggtgggtagttttagaatgGacgtggtcttagttgacatg	8	15	15	3	1	1	2	0	1	1	1	1	3	1	3	0	4	0	3	0	4	4	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr13:86369739G>C	ENST00000400286.2	-	2	1503	c.905C>G	c.(904-906)tCc>tGc	p.S302C		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	302						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTTTAGAATGGACGTGGTCTT	0.428													7	46					0	0	0	0	C	86369739	G	C	86369739	3	2	329	1	0	0	0	0	1	0	0	0	14835	1174	41	2	1624	2	SLITRK6	13	86369739	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	25309760	86369739	28800139	126	61102											
SUPT16H	11198	broad.mit.edu	37	chr14	21822620	21822620	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttgttcgaagaagccctCagggtcatcaacaatggtct	11	10	9	11	1	4	1	3	0	1	1	5	2	4	1	2	2	2	1	2	2	4	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr14:21822620C>G	ENST00000216297.2	-	23	3078	c.2740G>C	c.(2740-2742)Gag>Cag	p.E914Q		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	914					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AAGAAGCCCTCAGGGTCATCA	0.488													7	42					0	0	0	0	G	21822620	C	G	21822620	3	3	329	1	0	0	0	0	1	0	0	0	15486	835	29	2	419	2	SUPT16H	14	21822620	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08		21822620	85526920	127	61103											
METTL3	56339	broad.mit.edu	37	chr14	21969183	21969183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaagcatcaatttcatagtGaacatacttgcaggtatcca	14	11	7	9	0	2	1	2	1	0	0	3	1	3	1	1	1	4	4	1	1	6	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr14:21969183G>A	ENST00000298717.4	-	5	1139	c.988C>T	c.(988-990)Cac>Tac	p.H330Y	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	330					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ATTTCATAGTGAACATACTTG	0.443													4	32					0	0	0	0	A	21969183	G	A	21969183	3	1	329	1	0	0	0	0	1	0	0	0	9570	1290	45	2	782	2	METTL3	14	21969183	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	146563	21969183	85380357	128	61104											
PTGER2	5732	broad.mit.edu	37	chr14	52781579	52781579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccctggtggcactggcgcccGagagccgcgcgtgcacctac	5	5	14	17	5	0	1	0	0	0	1	0	2	0	1	4	3	3	2	4	3	1	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr14:52781579G>C	ENST00000245457.5	+	1	467	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	105						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	ACTGGCGCCCGAGAGCCGCGC	0.642													9	57					0	0	0	0	C	52781579	G	C	52781579	3	2	329	1	0	0	0	0	1	0	0	0	12823	1059	37	3	315	3	PTGER2	14	52781579	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	30812396	52781579	54567961	129	61105											
MAP3K9	4293	broad.mit.edu	37	chr14	71197410	71197410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagggtccagccgttgcCggttggcagaaggacgcggc	8	5	16	12	4	0	1	0	0	0	1	1	2	1	2	4	5	2	3	4	5	2	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr14:71197410C>T	ENST00000554752.2	-	12	3001	c.3002G>A	c.(3001-3003)cGg>cAg	p.R1001Q	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R734Q|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R729Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R978Q|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R1015Q			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1001					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CAGCCGTTGCCGGTTGGCAGA	0.637													5	89					0	0	0	0	T	71197410	C	T	71197410	3	4	329	1	0	0	0	0	1	0	0	0	9326	652	23	1	316	1	MAP3K9	14	71197410	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	18415831	71197410	36152130	130	61106											
SNW1	22938	broad.mit.edu	37	chr14	78202301	78202301	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcggctaggagaatgcatGacaggcgcaggaggagaagg	12	6	17	6	2	0	3	0	1	0	2	1	6	0	4	0	6	1	3	0	6	3	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr14:78202301G>A	ENST00000261531.7	-	7	749	c.687C>T	c.(685-687)gtC>gtT	p.V229V	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Silent_p.V229V|SNW1_ENST00000554775.1_Silent_p.V67V	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	229	Pro-rich.|SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GAGAATGCATGACAGGCGCAG	0.388													4	15					0	0	0	0	A	78202301	G	A	78202301	2	1	329	1	0	0	0	0	0	0	0	1	14967	1277	45	2		2	SNW1	14	78202301	Silent	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	7004891	78202301	29147239	131	61107											
PRTG	283659	broad.mit.edu	37	chr15	55965788	55965788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaccacttggccccgccGatatttggctgggattggca	7	9	12	13	2	0	0	0	0	0	0	0	2	0	1	4	4	1	3	4	4	1	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:55965788G>A	ENST00000389286.4	-	10	1680	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	545	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGGCCCCGCCGATATTTGGCT	0.498													12	97					0	0	0	0	A	55965788	G	A	55965788	3	1	329	1	0	0	0	0	1	0	0	0	12717	1057	37	1	1863	1	PRTG	15	55965788	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08		55965788	46565604	132	61108											
RFX7	64864	broad.mit.edu	37	chr15	56436623	56436623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctccattgctgagaccaGaaggcagctgaaggtagagg	11	8	13	9	0	1	4	0	2	1	3	3	5	2	4	2	3	2	4	2	3	3	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:56436623G>C	ENST00000423270.1	-	3	253	c.254C>G	c.(253-255)tCt>tGt	p.S85C	RFX7_ENST00000422057.1_5'UTR|RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000317318.6_Missense_Mutation_p.S85C	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	726					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCTGAGACCAGAAGGCAGCTG	0.348													5	20					0	0	0	0	C	56436623	G	C	56436623	3	2	329	1	0	0	0	0	1	0	0	0	13350	942	33	2	4156	2	RFX7	15	56436623	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	470835	56436623	46094769	133	61109											
HERC1	8925	broad.mit.edu	37	chr15	63904479	63904479	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcatgatttgaaatctctGagaaatgtcagcagtgttgg	11	14	10	6	0	3	3	2	3	1	1	4	4	3	3	0	1	1	2	0	1	2	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:63904479G>A	ENST00000443617.2	-	77	14458	c.14371C>T	c.(14371-14373)Cag>Tag	p.Q4791*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4791	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGAAATCTCTGAGAAATGTCA	0.428													5	19					0	0	0	0	A	63904479	G	A	63904479	4	1	329	1	0	0	0	0	0	1	0	0	7107	1299	45	2	222	2	HERC1	15	63904479	Nonsense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	7467856	63904479	38626913	134	61110											
IGDCC4	57722	broad.mit.edu	37	chr15	65703569	65703569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccccatccttgctccaggtCaccctggtggggggtccagc	4	9	12	16	0	1	0	1	0	0	0	5	0	5	0	6	5	2	1	6	5	0	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:65703569C>T	ENST00000352385.2	-	2	419	c.210G>A	c.(208-210)gtG>gtA	p.V70V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	70	Ig-like C2-type 1.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGCTCCAGGTCACCCTGGTGG	0.642													4	40					0	0	0	0	T	65703569	C	T	65703569	2	4	329	1	0	0	0	0	0	0	0	1	7622	813	29	2		2	IGDCC4	15	65703569	Silent	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	1799090	65703569	36827823	135	61111											
ALPK3	57538	broad.mit.edu	37	chr15	85400425	85400425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgggaggagagagatgccGagggccacagtcatcaggcc	10	4	18	9	1	2	2	2	0	0	2	2	6	2	3	3	5	1	0	3	5	0	0	rs116079740	by1000genomes	TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:85400425G>A	ENST00000258888.5	+	6	3229	c.3062G>A	c.(3061-3063)cGa>cAa	p.R1021Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1021					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGAGATGCCGAGGGCCACAG	0.647													10	47					0	0	0	0	A	85400425	G	A	85400425	3	1	329	1	0	0	0	0	1	0	0	0	546	1058	37	1	3084	1	ALPK3	15	85400425	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	19696856	85400425	17130967	136	61112											
FES	2242	broad.mit.edu	37	chr15	91436007	91436007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggcggtgaagtcttgtcGagagacgctcccacctgacc	7	8	14	12	3	1	3	0	2	1	1	3	5	2	3	3	3	0	1	3	3	1	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:91436007G>A	ENST00000328850.3	+	14	1920	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q	FES_ENST00000450438.2_Missense_Mutation_p.R465Q|FES_ENST00000444422.2_Missense_Mutation_p.R523Q|FES_ENST00000414248.2_Missense_Mutation_p.R465Q|FES_ENST00000394300.3_Missense_Mutation_p.R535Q|FES_ENST00000394302.1_Missense_Mutation_p.R465Q	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	593	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AAGTCTTGTCGAGAGACGCTC	0.577													6	37					0	0	0	0	A	91436007	G	A	91436007	3	1	329	1	0	0	0	0	1	0	0	0	5865	1058	37	1	1828	1	FES	15	91436007	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	6035582	91436007	11095385	137	61113											
OR4F15	390649	broad.mit.edu	37	chr15	102358936	102358936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttttactgtgatctccctCggctcctcagacttgcctgt	4	16	8	13	1	2	2	1	1	1	1	5	2	3	2	3	1	2	2	3	1	1	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:102358936C>T	ENST00000332238.4	+	1	571	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGATCTCCCTCGGCTCCTCAG	0.428													12	75					0	0	0	0	T	102358936	C	T	102358936	3	4	329	1	0	0	0	0	1	0	0	0	11132	875	31	1	549	1	OR4F15	15	102358936	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	10922929	102358936	172456	138	61114											
CES1	1066	broad.mit.edu	37	chr16	55862697	55862697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acataggagggtacgaggtgGcattcttcacaaagctccat	12	9	11	9	1	2	0	1	0	1	0	3	2	3	1	1	4	2	3	1	4	3	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr16:55862697G>A	ENST00000422046.2	-	2	520	c.239C>T	c.(238-240)gCc>gTc	p.A80V	CES1_ENST00000361503.4_Missense_Mutation_p.A80V|CES1_ENST00000360526.3_Missense_Mutation_p.A81V			P23141	EST1_HUMAN	carboxylesterase 1	80					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)	GTACGAGGTGGCATTCTTCAC	0.552													3	46					0	0	0	0	A	55862697	G	A	55862697	3	1	329	1	0	0	0	0	1	0	0	0	3298	1203	42	4	1516	4	CES1	16	55862697	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08		55862697	34492056	139	61115											
CDH11	1009	broad.mit.edu	37	chr16	65032504	65032504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgttggcatgataggtctCgtgcaggaactccggagggt	8	9	15	9	3	1	1	0	1	1	0	3	3	2	3	1	5	2	3	1	5	2	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr16:65032504C>T	ENST00000394156.3	-	4	937	c.484G>A	c.(484-486)Gag>Aag	p.E162K	CDH11_ENST00000268603.4_Missense_Mutation_p.E162K|CDH11_ENST00000566827.1_Missense_Mutation_p.E36K			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	162	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGATAGGTCTCGTGCAGGAAC	0.597			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			10	89					0	0	0	0	T	65032504	C	T	65032504	3	4	329	1	0	0	0	0	1	0	0	0	3126	893	31	1	1946	1	CDH11	16	65032504	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	9169807	65032504	25322249	140	61116											
ESRP2	80004	broad.mit.edu	37	chr16	68269632	68269632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtactcagtgcggccgcctCggcacgaaccagcgatttgt	7	8	12	14	6	1	0	1	0	0	0	2	2	1	0	3	2	4	2	3	2	2	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr16:68269632C>T	ENST00000473183.2	-	2	770	c.232G>A	c.(232-234)Gag>Aag	p.E78K	ESRP2_ENST00000565858.1_Missense_Mutation_p.E78K			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	78					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCGGCCGCCTCGGCACGAACC	0.716													5	28					0	0	0	0	T	68269632	C	T	68269632	3	4	329	1	0	0	0	0	1	0	0	0	5297	893	31	1	1977	1	ESRP2	16	68269632	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	3237128	68269632	22085121	141	61117											
VPS4A	27183	broad.mit.edu	37	chr16	69353412	69353412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctgtgtcctcctcaGatctgatgtccaagtggctg	5	15	9	12	0	4	2	1	1	3	1	8	2	7	2	3	1	0	1	3	1	1	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr16:69353412G>T	ENST00000254950.11	+	6	742	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	RP11-343C2.3_ENST00000570054.2_Missense_Mutation_p.D220Y|VPS4A_ENST00000569775.1_Intron	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	196					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				GTCCTCCTCAGATCTGATGTC	0.602													6	35					3.59834e-05	3.72885e-05	1	0	T	69353412	G	T	69353412	3	4	329	1	0	0	0	0	1	0	0	0	17308	942	33	2	608	2	VPS4A	16	69353412	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	1083780	69353412	21001341	142	61118											
VPS4A	27183	broad.mit.edu	37	chr16	69354105	69354105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccatcatcttcatcgatGaggtggattccctctgcggg	6	12	10	13	2	4	1	2	1	2	0	7	3	6	2	3	3	1	0	3	3	0	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr16:69354105G>A	ENST00000254950.11	+	7	838	c.682G>A	c.(682-684)Gag>Aag	p.E228K	COG8_ENST00000564419.1_5'UTR|RP11-343C2.3_ENST00000570054.2_Missense_Mutation_p.E252K|VPS4A_ENST00000569775.1_Intron	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	228					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				CTTCATCGATGAGGTGGATTC	0.567													5	41					0	0	0	0	A	69354105	G	A	69354105	3	1	329	1	0	0	0	0	1	0	0	0	17308	1291	45	2	708	2	VPS4A	16	69354105	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	693	69354105	21000648	143	61119											
EIF5A	1984	broad.mit.edu	37	chr17	7213022	7213022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccttcccaatgcagtgctCagcattacgtaagaatggct	11	10	8	12	1	1	1	1	0	0	1	2	1	2	1	2	1	4	5	2	1	4	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr17:7213022C>T	ENST00000336458.8	+	2	469	c.68C>T	c.(67-69)tCa>tTa	p.S23L	EIF5A_ENST00000416016.2_Missense_Mutation_p.S23L|EIF5A_ENST00000572815.1_Missense_Mutation_p.S23L|EIF5A_ENST00000576930.1_Missense_Mutation_p.S23L|EIF5A_ENST00000336452.7_Missense_Mutation_p.S53L|EIF5A_ENST00000571955.1_Missense_Mutation_p.S23L|EIF5A_ENST00000419711.2_Missense_Mutation_p.S23L|EIF5A_ENST00000573542.1_Missense_Mutation_p.S23L	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	23	DOHH-binding.				induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						ATGCAGTGCTCAGCATTACGT	0.522													10	119					0	0	0	0	T	7213022	C	T	7213022	3	4	329	1	0	0	0	0	1	0	0	0	5079	838	29	2	164	2	EIF5A	17	7213022	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08		7213022	73982188	144	61120											
DNAH9	1770	broad.mit.edu	37	chr17	11672474	11672474	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagtgagaccatccgtgtGtgctacttcatggagcggtt	8	11	13	9	3	1	1	1	1	0	1	2	4	2	2	2	2	3	2	2	2	1	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr17:11672474G>T	ENST00000262442.3	+	38	7448	c.7380G>T	c.(7378-7380)gtG>gtT	p.V2460V	DNAH9_ENST00000454412.2_Silent_p.V2460V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2460	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCATCCGTGTGTGCTACTTCA	0.617													20	84					2.39187e-15	2.54455e-15	1	0	T	11672474	G	T	11672474	2	4	329	1	0	0	0	0	0	0	0	1	4644	1364	48	4		4	DNAH9	17	11672474	Silent	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	4459452	11672474	69522736	145	61121											
LIG3	3980	broad.mit.edu	37	chr17	33331362	33331362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagacttcagccgtctcaGacgctactttgtggcattcg	8	11	9	13	3	2	2	2	0	1	2	4	2	2	2	2	1	2	2	2	1	1	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr17:33331362G>A	ENST00000378526.4	+	20	3000	c.2867G>A	c.(2866-2868)aGa>aAa	p.R956K		NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	956	BRCT.				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AGCCGTCTCAGACGCTACTTT	0.577								Other BER factors					6	72					0	0	0	0	A	33331362	G	A	33331362	3	1	329	1	0	0	0	0	1	0	0	0	8836	942	33	2	2999	2	LIG3	17	33331362	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	21658888	33331362	47863848	146	61122											
PSMC3IP	29893	broad.mit.edu	37	chr17	40725341	40725341	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacttaccatcctcttcctCttcctccactccttacagta	8	14	1	18	0	2	0	0	0	2	0	7	0	7	0	6	0	2	1	6	0	3	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr17:40725341C>T	ENST00000393795.3	-	6	633	c.525G>A	c.(523-525)aaG>aaA	p.K175K	PSMC3IP_ENST00000587209.1_Silent_p.K112K|PSMC3IP_ENST00000590760.1_Silent_p.K50K|PSMC3IP_ENST00000253789.5_Silent_p.K163K	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	175	DNA binding (By similarity).				DNA recombination|meiosis	nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TCCTCTTCCTCTTCCTCCACT	0.517													13	79					0	0	0	0	T	40725341	C	T	40725341	2	4	329	1	0	0	0	0	0	0	0	1	12767	912	32	2		2	PSMC3IP	17	40725341	Silent	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	7393979	40725341	40469869	147	61123											
PDK2	5164	broad.mit.edu	37	chr17	48182772	48182772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggacatcatggagttcctgGacaaggatcccgaggaccat	11	8	12	10	1	1	0	1	0	0	0	3	6	3	5	3	5	0	1	3	5	1	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr17:48182772G>A	ENST00000503176.1	+	3	459	c.298G>A	c.(298-300)Gac>Aac	p.D100N	PDK2_ENST00000007708.3_Missense_Mutation_p.D36N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	100					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GGAGTTCCTGGACAAGGATCC	0.652									Autosomal Dominant Polycystic Kidney Disease				3	21					0	0	0	0	A	48182772	G	A	48182772	3	1	329	1	0	0	0	0	1	0	0	0	11747	1174	41	2	308	2	PDK2	17	48182772	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	7457431	48182772	33012438	148	61124											
TMEM200C	645369	broad.mit.edu	37	chr18	5891773	5891773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggccgtggttgggaccCggtggctgctgcccgcaggc	2	9	18	12	3	0	0	0	0	0	0	0	1	0	1	3	6	2	5	3	6	0	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr18:5891773C>T	ENST00000581347.1	-	3	935	c.290G>A	c.(289-291)cGg>cAg	p.R97Q	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R97Q			A6NKL6	T200C_HUMAN	transmembrane protein 200C	97						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGTTGGGACCCGGTGGCTGCT	0.687													8	44					0	0	0	0	T	5891773	C	T	5891773	3	4	329	1	0	0	0	0	1	0	0	0	16219	652	23	1	1579	1	TMEM200C	18	5891773	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08		5891773	72185475	149	61125											
PTPRM	5797	broad.mit.edu	37	chr18	8069693	8069693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctaaatagatcccatgcGaggcccaagaaaactagaag	16	8	8	9	1	1	3	0	0	1	3	2	4	2	3	2	1	2	0	2	1	8	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr18:8069693G>A	ENST00000332175.8	+	8	2179	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q	PTPRM_ENST00000400060.4_Missense_Mutation_p.R381Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.R319Q|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.R381Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.R168Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	381	Fibronectin type-III 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GATCCCATGCGAGGCCCAAGA	0.413													5	23					0	0	0	0	A	8069693	G	A	8069693	3	1	329	1	0	0	0	0	1	0	0	0	12888	1058	37	1	1172	1	PTPRM	18	8069693	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	2177920	8069693	70007555	150	61126											
OSBPL1A	114876	broad.mit.edu	37	chr18	21747360	21747360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagggataatgaatacaCtttcagaatccggcactggc	12	10	9	10	1	1	2	1	1	0	1	3	3	3	3	2	3	1	1	2	3	4	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr18:21747360C>T	ENST00000319481.3	-	25	2674	c.2468G>A	c.(2467-2469)aGt>aAt	p.S823N	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.S310N|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S441N	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	823					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AATGAATACACTTTCAGAATC	0.458													9	62					0	0	0	0	T	21747360	C	T	21747360	3	4	329	1	0	0	0	0	1	0	0	0	11348	565	20	4	400	4	OSBPL1A	18	21747360	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	13677667	21747360	56329888	151	61127											
SYT4	6860	broad.mit.edu	37	chr18	40854100	40854100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgccattgagatctctCttttcaagatccagatgcaa	13	13	6	9	0	3	3	1	1	2	3	5	4	4	3	2	0	2	1	2	0	3	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr18:40854100C>A	ENST00000255224.3	-	2	662	c.294G>T	c.(292-294)aaG>aaT	p.K98N	SYT4_ENST00000590752.1_Missense_Mutation_p.K80N|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	98						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGAGATCTCTCTTTTCAAGAT	0.393													5	39					0.27861	0.28001	1	0	A	40854100	C	A	40854100	3	1	329	1	0	0	0	0	1	0	0	0	15567	912	32	2	995	2	SYT4	18	40854100	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	19106740	40854100	37223148	152	61128											
CD226	10666	broad.mit.edu	37	chr18	67534613	67534613	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctgtgtatcccaggactCtgtaaatagatctcttctct	8	16	6	11	0	4	1	0	0	4	1	7	2	5	2	1	1	0	2	1	1	4	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr18:67534613C>G	ENST00000280200.4	-	6	1133	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	CD226_ENST00000582621.1_Missense_Mutation_p.E289Q|CD226_ENST00000577287.1_Missense_Mutation_p.E134Q|CD226_ENST00000581982.1_Missense_Mutation_p.E134Q	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	289					cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TCCCAGGACTCTGTAAATAGA	0.333													5	67					0	0	0	0	G	67534613	C	G	67534613	3	3	329	1	0	0	0	0	1	0	0	0	3015	922	32	2	153	2	CD226	18	67534613	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	26680513	67534613	10542635	153	61129											
TNPO2	30000	broad.mit.edu	37	chr19	12812644	12812644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttctcctcgttgtccctGatgttcctgagggacgtgca	4	14	10	13	2	1	2	0	2	1	0	6	3	4	3	4	1	1	3	4	1	0	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:12812644G>C	ENST00000425528.1	-	23	2790	c.2433C>G	c.(2431-2433)atC>atG	p.I811M	TNPO2_ENST00000450764.2_Missense_Mutation_p.I801M|TNPO2_ENST00000592287.1_Missense_Mutation_p.I811M|TNPO2_ENST00000356861.5_Missense_Mutation_p.I801M|TNPO2_ENST00000588216.1_Missense_Mutation_p.I801M|TNPO2_ENST00000441499.1_Missense_Mutation_p.I801M			O14787	TNPO2_HUMAN	transportin 2	811					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTTGTCCCTGATGTTCCTGA	0.627													7	64					0	0	0	0	C	12812644	G	C	12812644	3	2	329	1	0	0	0	0	1	0	0	0	16430	1280	45	2	272	2	TNPO2	19	12812644	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08		12812644	46316339	154	61130											
OR10H2	26538	broad.mit.edu	37	chr19	15839311	15839311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctcctgggctggtggctCggtcatggggatggtggtga	3	11	19	8	1	1	1	1	1	0	0	3	2	2	2	1	8	1	3	1	8	0	0	rs139469467		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:15839311C>T	ENST00000305899.3	+	1	478	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCTGGTGGCTCGGTCATGGGG	0.592													4	88					0	0	0	0	T	15839311	C	T	15839311	3	4	329	1	0	0	0	0	1	0	0	0	10977	893	31	1	460	1	OR10H2	19	15839311	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	3026667	15839311	43289672	155	61131											
OR10H2	26538	broad.mit.edu	37	chr19	15839605	15839605	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttattgtggtcattgTgcactatggctttgcctctg	5	17	9	10	0	3	0	2	0	1	0	3	0	3	0	2	2	2	2	2	2	2	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:15839605T>C	ENST00000305899.3	+	1	772	c.752T>C	c.(751-753)gTg>gCg	p.V251A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GTGGTCATTGTGCACTATGGC	0.557													15	88					0	0	0	0	C	15839605	T	C	15839605	3	2	329	1	0	0	0	0	1	0	0	0	10977	1696	59	5	754	5	OR10H2	19	15839605	Missense_Mutation	SNP	T	TCGA-CV-A45O-01A-21D-A24D-08	294	15839605	43289378	156	61132											
LIPE	3991	broad.mit.edu	37	chr19	42914582	42914582	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggccgattggtaaccagCaggcgctgggcgtagtagac	8	6	15	12	4	0	1	0	0	0	1	0	2	0	1	3	4	2	5	3	4	3	4			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:42914582C>A	ENST00000244289.4	-	2	1572	c.1296G>T	c.(1294-1296)ctG>ctT	p.L432L	LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	432					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)				TGGTAACCAGCAGGCGCTGGG	0.637													3	43					0.150653	0.152948	1	0	A	42914582	C	A	42914582	2	1	329	1	0	0	0	0	0	0	0	1	8876	697	25	4		4	LIPE	19	42914582	Silent	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	27074977	42914582	16214401	157	61133											
GRWD1	83743	broad.mit.edu	37	chr19	48953936	48953936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggtcgcctgctgacCggtgactgtcaaaagaacat	10	8	10	13	2	1	3	1	2	0	1	3	3	2	3	4	2	2	1	4	2	3	0			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:48953936C>T	ENST00000253237.5	+	5	929	c.696C>T	c.(694-696)acC>acT	p.T232T		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	232						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GCCTGCTGACCGGTGACTGTC	0.652													10	63					0	0	0	0	T	48953936	C	T	48953936	2	4	329	1	0	0	0	0	0	0	0	1	6861	639	23	1		1	GRWD1	19	48953936	Silent	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	6039354	48953936	10175047	158	61134											
AP2A1	160	broad.mit.edu	37	chr19	50306633	50306633	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgggagacctccagactCatatcctctcaggcccggcc	8	6	9	18	2	2	2	2	0	1	2	5	3	4	2	6	3	0	0	6	3	1	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:50306633C>A	ENST00000354293.5	+	18	2510	c.2344_splice	c.e18+1	p.Q782_splice	AP2A1_ENST00000359032.5_Splice_Site_p.Q804_splice	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	804					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCTCCAGACTCATATCCTCTC	0.597													7	35					0.00198382	0.00204517	1	0	A	50306633	C	A	50306633	5	1	329	1	0	0	0	0	0	0	1	0	740	840	29	2	2484	2	AP2A1	19	50306633	Splice_Site	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	1352697	50306633	8822350	159	61135											
CACNG6	59285	broad.mit.edu	37	chr19	54515361	54515361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcctgatcctgctgttggGggccggctgctttctgctgc	1	12	15	13	2	1	1	0	1	1	0	2	1	2	1	3	4	4	5	3	4	0	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:54515361G>A	ENST00000252729.2	+	4	1291	c.701G>A	c.(700-702)gGg>gAg	p.G234E	CACNG6_ENST00000346968.2_Missense_Mutation_p.G188E|CACNG6_ENST00000352529.1_Missense_Mutation_p.G163E	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	234						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CTGCTGTTGGGGGCCGGCTGC	0.706													14	86					0	0	0	0	A	54515361	G	A	54515361	3	1	329	1	0	0	0	0	1	0	0	0	2586	1232	43	4	715	4	CACNG6	19	54515361	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	4208728	54515361	4613622	160	61136											
IL10RB	3588	broad.mit.edu	37	chr21	34640812	34640812	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaacctgactttcacagctCagtacctaaggtgggtctgg	9	10	12	10	0	3	1	2	1	1	0	3	2	3	2	2	4	3	2	2	4	3	3			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr21:34640812C>T	ENST00000290200.2	+	2	271	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	AP000295.9_ENST00000433395.2_Silent_p.L182L	NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TTTCACAGCTCAGTACCTAAG	0.532													9	46					0	0	0	0	T	34640812	C	T	34640812	4	4	329	1	0	0	0	0	0	1	0	0	7674	827	29	2	169	2	IL10RB	21	34640812	Nonsense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08		34640812	13489083	161	61137											
TMPRSS3	64699	broad.mit.edu	37	chr21	43803206	43803206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagagcccccgcacaggtGgtagccctggaactgaaggc	10	4	14	13	1	0	2	0	1	0	1	0	4	0	3	3	4	3	2	3	4	3	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr21:43803206G>A	ENST00000291532.3	-	8	1673	c.718C>T	c.(718-720)Cac>Tac	p.H240Y	TMPRSS3_ENST00000433957.2_Missense_Mutation_p.H240Y|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.H240Y|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.H324Y|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.H238Y|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	240	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CCGCACAGGTGGTAGCCCTGG	0.587													8	43					0	0	0	0	A	43803206	G	A	43803206	3	1	329	1	0	0	0	0	1	0	0	0	16342	1348	47	4	753	4	TMPRSS3	21	43803206	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	9162394	43803206	4326689	162	61138											
LMF2	91289	broad.mit.edu	37	chr22	50945072	50945072	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccagccgtcactcaccactgGaaataaaggaacacctggcc	13	5	8	15	1	2	0	2	0	0	0	2	2	2	2	5	3	2	0	5	3	4	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr22:50945072G>C	ENST00000216080.5	-	3	465	c.297C>G	c.(295-297)ttC>ttG	p.F99L	LMF2_ENST00000474879.2_Missense_Mutation_p.F124L|LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000380796.3_Missense_Mutation_p.F124L			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	124						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCACCACTGGAAATAAAGGA	0.657													10	63					0	0	0	0	C	50945072	G	C	50945072	3	2	329	1	0	0	0	0	1	0	0	0	8901	1165	41	2	1799	2	LMF2	22	50945072	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08		50945072	359494	163	61139											
GLRA2	2742	broad.mit.edu	37	chrX	14627288	14627288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaccacagtcttaacgatGaccacccagagttcaggctc	12	8	7	14	1	3	2	2	1	1	1	4	3	3	2	3	1	1	2	3	1	1	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chrX:14627288G>A	ENST00000218075.4	+	7	1421	c.891G>A	c.(889-891)atG>atA	p.M297I	GLRA2_ENST00000355020.4_Missense_Mutation_p.M297I|GLRA2_ENST00000443437.2_Missense_Mutation_p.M208I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	297					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TCTTAACGATGACCACCCAGA	0.488													8	25					0	0	0	0	A	14627288	G	A	14627288	3	1	329	1	0	0	0	0	1	0	0	0	6506	1290	45	2	989	2	GLRA2	23	14627288	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08		14627288	140643272	164	61140											
IQSEC2	23096	broad.mit.edu	37	chrX	53277968	53277968	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccctatcatctgccggctGaggcctttccgctccaggat	5	11	9	16	2	2	1	1	1	1	0	5	2	5	2	6	3	1	2	6	3	1	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chrX:53277968G>A	ENST00000396435.3	-	6	2594	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L	IQSEC2_ENST00000375365.2_Silent_p.L593L|IQSEC2_ENST00000375368.5_Silent_p.L788L	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	788	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCTGCCGGCTGAGGCCTTTCC	0.602													11	16					0	0	0	0	A	53277968	G	A	53277968	2	1	329	1	0	0	0	0	0	0	0	1	7871	1277	45	2		2	IQSEC2	23	53277968	Silent	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	38650680	53277968	101992592	165	61141											
IQSEC2	23096	broad.mit.edu	37	chrX	53277994	53277994	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccgctccaggatgaagtGagccactcccaccggtgtgt	7	10	11	13	2	0	2	0	2	0	0	3	3	3	3	5	2	1	1	5	2	1	1			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chrX:53277994G>C	ENST00000396435.3	-	6	2568	c.2368C>G	c.(2368-2370)Cac>Gac	p.H790D	IQSEC2_ENST00000375365.2_Missense_Mutation_p.H585D|IQSEC2_ENST00000375368.5_Missense_Mutation_p.H780D	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	780	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AGGATGAAGTGAGCCACTCCC	0.557													12	16					0	0	0	0	C	53277994	G	C	53277994	3	2	329	1	0	0	0	0	1	0	0	0	7871	1290	45	2	2138	2	IQSEC2	23	53277994	Missense_Mutation	SNP	G	TCGA-CV-A45O-01A-21D-A24D-08	26	53277994	101992566	166	61142											
DIAPH2	1730	broad.mit.edu	37	chrX	96171501	96171501	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attggcaagagcaattgaccCcaaacaacccaacatgatga	17	6	7	11	0	0	4	0	3	0	1	0	4	0	4	3	1	4	2	3	1	5	2			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chrX:96171501C>G	ENST00000324765.8	+	8	1144	c.797C>G	c.(796-798)cCc>cGc	p.P266R	DIAPH2_ENST00000373054.4_Missense_Mutation_p.P262R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P266R|DIAPH2_ENST00000373049.4_Missense_Mutation_p.P266R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P266R			O60879	DIAP2_HUMAN	diaphanous-related formin 2	266	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GCAATTGACCCCAAACAACCC	0.303													5	11					0	0	0	0	G	96171501	C	G	96171501	3	3	329	1	0	0	0	0	1	0	0	0	4556	623	22	4	827	4	DIAPH2	23	96171501	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	42893507	96171501	59099059	167	61143											
CDR1	1038	broad.mit.edu	37	chrX	139866462	139866462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttccaacaaaggtacgtCttccaacaaaggtatgtctt	12	12	7	10	1	3	0	0	0	3	0	5	0	5	0	2	2	3	2	2	2	6	5			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chrX:139866462C>T	ENST00000370532.2	-	1	261	c.70G>A	c.(70-72)Gac>Aac	p.D24N		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	24	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AAAGGTACGTCTTCCAACAAA	0.428													16	67					0	0	0	0	T	139866462	C	T	139866462	3	4	329	1	0	0	0	0	1	0	0	0	3200	913	32	2	722	2	CDR1	23	139866462	Missense_Mutation	SNP	C	TCGA-CV-A45O-01A-21D-A24D-08	43694961	139866462	15404098	168	61144											
TAS1R1	80835	broad.mit.edu	37	chr1	6638800	6638801	+	Frame_Shift_Ins	INS	-	-	T																															cgcactgtggtgtttttggcINStttgcgtgagcacacctctt																										TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:6638800_6638801insT	ENST00000333172.6	+	6	1875_1876	c.1682_1683insT	c.(1681-1683)gttfs	p.V561fs	TAS1R1_ENST00000351136.3_Frame_Shift_Ins_p.V307fs|TAS1R1_ENST00000328191.4_Frame_Shift_Ins_p.L450fs	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	561					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GTGTTTTTGGCTTTGCGTGAGC	0.594													11	62	---	---	---	---					T	6638801	-	T	6638800	7	5	330	1	0	1	1	0	0	0	0	0	15653	797	28	0	1704	0	TAS1R1	1	6638800	Frame_Shift_Ins	INS	-	TCGA-CV-A45P-01A-11D-A24D-08		6638800	242611821	1	61145											
H6PD	9563	broad.mit.edu	37	chr1	9322255	9322255	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgctgcggcacaagcttCaggtcttccaggcgctgcgg	5	9	14	13	3	2	0	1	0	1	0	3	0	3	0	1	4	4	4	1	4	1	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:9322255C>G	ENST00000377403.2	+	4	1185	c.883C>G	c.(883-885)Cag>Gag	p.Q295E	H6PD_ENST00000602477.1_Missense_Mutation_p.Q306E	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	295	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCACAAGCTTCAGGTCTTCCA	0.642													5	34					0	0	0	0	G	9322255	C	G	9322255	3	3	330	1	0	0	0	0	1	0	0	0	6986	827	29	2	893	2	H6PD	1	9322255	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	2683455	9322255	239928366	2	61146											
ZBTB40	9923	broad.mit.edu	37	chr1	22848021	22848021	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtggtaccacaatcgaacCcaccaccctgacgtatttgc	10	10	7	14	2	0	1	0	1	0	0	1	2	0	1	4	1	3	2	4	1	4	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:22848021C>A	ENST00000404138.1	+	16	3592	c.3081C>A	c.(3079-3081)acC>acA	p.T1027T	ZBTB40_ENST00000375647.4_Silent_p.T1027T|ZBTB40_ENST00000374651.4_Silent_p.T915T	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1027					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ACAATCGAACCCACCACCCTG	0.502													15	47					2.31682e-05	2.42213e-05	1	0	A	22848021	C	A	22848021	2	1	330	1	0	0	0	0	0	0	0	1	17637	610	22	4		4	ZBTB40	1	22848021	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	13525766	22848021	226402600	3	61147											
SMPDL3B	27293	broad.mit.edu	37	chr1	28271923	28271923	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctatgccatgaaggagaTtgagccagagccagacttca	13	8	10	10	0	2	5	1	2	1	3	2	6	2	5	3	1	3	0	3	1	2	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:28271923T>C	ENST00000373894.3	+	2	433	c.242T>C	c.(241-243)aTt>aCt	p.I81T	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.I81T|SMPDL3B_ENST00000466793.1_3'UTR|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.I81T	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	81					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		ATGAAGGAGATTGAGCCAGAG	0.572													9	33					0	0	0	0	C	28271923	T	C	28271923	3	2	330	1	0	0	0	0	1	0	0	0	14897	1493	52	5	248	5	SMPDL3B	1	28271923	Missense_Mutation	SNP	T	TCGA-CV-A45P-01A-11D-A24D-08	5423902	28271923	220978698	4	61148											
ZMYM6	9204	broad.mit.edu	37	chr1	35485040	35485040	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcatcgtgtggagcagaaGagctgagtagatcctgtctt	10	11	13	7	1	1	4	0	1	1	3	3	5	2	5	1	1	3	4	1	1	2	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:35485040G>C	ENST00000357182.4	-	4	569	c.342C>G	c.(340-342)ctC>ctG	p.L114L	ZMYM6_ENST00000317538.5_Silent_p.L114L|ZMYM6_ENST00000373333.1_Silent_p.L114L|ZMYM6_ENST00000373340.2_Silent_p.L114L|ZMYM6_ENST00000487874.1_Silent_p.L114L|ZMYM6_ENST00000493328.1_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	114					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGGAGCAGAAGAGCTGAGTAG	0.428													15	69					0	0	0	0	C	35485040	G	C	35485040	2	2	330	1	0	0	0	0	0	0	0	1	17799	929	33	2		2	ZMYM6	1	35485040	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	7213117	35485040	213765581	5	61149											
KDM4A	9682	broad.mit.edu	37	chr1	44169343	44169343	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggaagtggtccaagtgaGatggacagacggccaagtct	12	6	16	7	1	1	2	0	1	1	2	2	5	2	4	2	5	0	0	2	5	3	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:44169343G>C	ENST00000372396.3	+	20	3031	c.2897G>C	c.(2896-2898)aGa>aCa	p.R966T	KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	966	Tudor 2.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GTCCAAGTGAGATGGACAGAC	0.542													13	66					0	0	0	0	C	44169343	G	C	44169343	3	2	330	1	0	0	0	0	1	0	0	0	8181	942	33	2	2971	2	KDM4A	1	44169343	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	8684303	44169343	205081278	6	61150											
ZCCHC11	23318	broad.mit.edu	37	chr1	52901123	52901123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcatttacaaggttgcGgaccagctgggctgctaaga	10	10	13	8	1	0	2	0	1	0	1	0	3	0	3	1	3	5	5	1	3	3	5	rs143272455		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:52901123G>A	ENST00000371544.3	-	27	4436	c.4174C>T	c.(4174-4176)Cgc>Tgc	p.R1392C	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1393C	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1392					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ACAAGGTTGCGGACCAGCTGG	0.433													5	24					0	0	0	0	A	52901123	G	A	52901123	3	1	330	1	0	0	0	0	1	0	0	0	17675	1116	39	1	776	1	ZCCHC11	1	52901123	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	8731780	52901123	196349498	7	61151											
TACSTD2	4070	broad.mit.edu	37	chr1	59041876	59041876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctacaagctcggttcctttCtcaactcccccagttccttg	6	13	5	17	1	1	0	1	0	1	0	6	0	4	0	5	1	3	3	5	1	3	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:59041876C>G	ENST00000371225.2	-	1	1290	c.953G>C	c.(952-954)aGa>aCa	p.R318T		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	318					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					CGGTTCCTTTCTCAACTCCCC	0.602													3	24					0	0	0	0	G	59041876	C	G	59041876	3	3	330	1	0	0	0	0	1	0	0	0	15599	913	32	2	22	2	TACSTD2	1	59041876	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	6140753	59041876	190208745	8	61152											
DOCK7	85440	broad.mit.edu	37	chr1	62979403	62979403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttactttatactcaaagcaaGacacacagagataaagcaga	19	8	6	8	0	1	3	1	0	0	3	1	4	1	3	0	0	4	2	0	0	7	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:62979403G>C	ENST00000251157.5	-	32	4136	c.4103C>G	c.(4102-4104)tCt>tGt	p.S1368C	DOCK7_ENST00000340370.5_Missense_Mutation_p.S1337C	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1368					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTCAAAGCAAGACACACAGAG	0.363													14	44					0	0	0	0	C	62979403	G	C	62979403	3	2	330	1	0	0	0	0	1	0	0	0	4728	942	33	2	2395	2	DOCK7	1	62979403	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	3937527	62979403	186271218	9	61153											
NOTCH2	4853	broad.mit.edu	37	chr1	120510130	120510130	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcaggggtctgaatggCactcattgatgtccatctca	8	12	11	10	0	4	2	2	2	3	0	6	2	5	2	1	4	0	2	1	4	1	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:120510130C>A	ENST00000256646.2	-	8	1598	c.1379G>T	c.(1378-1380)tGc>tTc	p.C460F		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	460	EGF-like 12; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		GTCTGAATGGCACTCATTGAT	0.512			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				14	77					1.5842e-08	1.74338e-08	1	0	A	120510130	C	A	120510130	3	1	330	1	0	0	0	0	1	0	0	0	10618	710	25	4	6144	4	NOTCH2	1	120510130	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	57530727	120510130	128740491	10	61154											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879470	144879470	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctccaagggcttcctctcaGaggaactagccagtgttgag	9	10	11	11	0	2	2	1	1	2	1	5	3	3	3	3	2	2	2	3	2	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:144879470G>C	ENST00000369359.4	-	30	4426	c.4388C>G	c.(4387-4389)tCt>tGt	p.S1463C	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1327C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1327C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1283C|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1463C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1327					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTCCTCTCAGAGGAACTAGC	0.522			T	PDGFRB	MPD								19	200					0	0	0	0	C	144879470	G	C	144879470	3	2	330	1	0	0	0	0	1	0	0	0	11714	942	33	2	3132	2	PDE4DIP	1	144879470	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	24369340	144879470	104371151	11	61155											
ITGA10	8515	broad.mit.edu	37	chr1	145533128	145533128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcttgaaggaggccaccGccttttccccccacgaatgg	8	8	11	14	2	0	1	0	1	0	0	1	3	1	2	6	4	0	1	6	4	2	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:145533128G>A	ENST00000369304.3	+	11	1398	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	ITGA10_ENST00000538811.1_Missense_Mutation_p.R277H|ITGA10_ENST00000539363.1_Missense_Mutation_p.R265H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	408					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.R408H(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGGCCACCGCCTTTTCCCC	0.577													7	37					0	0	0	0	A	145533128	G	A	145533128	3	1	330	1	0	0	0	0	1	0	0	0	7926	1087	38	1	1265	1	ITGA10	1	145533128	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	653658	145533128	103717493	12	61156											
MNDA	4332	broad.mit.edu	37	chr1	158817652	158817652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgactcttctgccttcaactGagaacagttgaccgcaagct	10	10	8	13	2	3	2	1	2	2	1	3	4	3	2	2	0	4	3	2	0	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:158817652G>A	ENST00000368141.4	+	6	1383	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	374	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GCCTTCAACTGAGAACAGTTG	0.438													9	59					0	0	0	0	A	158817652	G	A	158817652	2	1	330	1	0	0	0	0	0	0	0	1	9746	1277	45	2		2	MNDA	1	158817652	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	13284524	158817652	90432969	13	61157											
RGS18	64407	broad.mit.edu	37	chr1	192153555	192153555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagttatacacgttttctGaaatctgacatctatttaga	13	15	6	7	1	3	3	0	2	3	1	3	4	3	3	0	0	1	2	0	0	5	7			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:192153555G>A	ENST00000367460.3	+	5	760	c.579G>A	c.(577-579)ctG>ctA	p.L193L		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	193	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACGTTTTCTGAAATCTGACA	0.413													8	43					0	0	0	0	A	192153555	G	A	192153555	2	1	330	1	0	0	0	0	0	0	0	1	13383	1277	45	2		2	RGS18	1	192153555	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	33335903	192153555	57097066	14	61158											
TMEM63A	9725	broad.mit.edu	37	chr1	226055729	226055729	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattccaggatctggtcatCactggccaagacacagagga	12	7	10	12	0	3	2	2	0	1	2	4	4	4	4	3	4	0	0	3	4	1	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:226055729C>T	ENST00000366835.3	-	7	643	c.371_splice	c.e7-1	p.D125_splice		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	125						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					ATCTGGTCATCACTGGCCAAG	0.522													11	40					0	0	0	0	T	226055729	C	T	226055729	5	4	330	1	0	0	0	0	0	0	1	0	16284	840	29	2	2122	2	TMEM63A	1	226055729	Splice_Site	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	33902174	226055729	23194892	15	61159											
WNT3A	89780	broad.mit.edu	37	chr1	228210482	228210482	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggaactacgtggagatCatgcccagcgtggccgaggg	9	6	16	10	3	1	1	1	0	0	1	1	4	1	2	2	4	5	1	2	4	2	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:228210482C>T	ENST00000284523.1	+	2	264	c.186C>T	c.(184-186)atC>atT	p.I62I	WNT3A_ENST00000366753.2_Silent_p.I62I	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	62					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				ACGTGGAGATCATGCCCAGCG	0.657													12	68					0	0	0	0	T	228210482	C	T	228210482	2	4	330	1	0	0	0	0	0	0	0	1	17485	816	29	2		2	WNT3A	1	228210482	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	2154753	228210482	21040139	16	61160											
KIF3C	3797	broad.mit.edu	37	chr2	26152259	26152259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctctccatgtgtagcgcacGagggtcttgttcttggtcgt	4	14	12	11	3	3	0	0	0	3	0	5	1	3	0	2	2	1	3	2	2	1	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:26152259G>A	ENST00000264712.3	-	7	2782	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	KIF3C_ENST00000405914.1_Missense_Mutation_p.R735C	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	735	Globular (Potential).				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)					TGTAGCGCACGAGGGTCTTGT	0.498													9	43					0	0	0	0	A	26152259	G	A	26152259	3	1	330	1	0	0	0	0	1	0	0	0	8353	1058	37	1	186	1	KIF3C	2	26152259	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08		26152259	217047114	17	61161											
DNAJC5G	285126	broad.mit.edu	37	chr2	27500790	27500790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaagaagcggaaaatttaCgaccagcatggctcattggg	13	9	11	8	2	2	1	1	0	1	1	2	3	2	2	1	3	3	2	1	3	5	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:27500790C>T	ENST00000296097.3	+	4	700	c.282C>T	c.(280-282)taC>taT	p.Y94Y	DNAJC5G_ENST00000402462.1_Silent_p.Y94Y|DNAJC5G_ENST00000404433.1_Silent_p.Y78Y|DNAJC5G_ENST00000406962.1_Intron	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	94	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAAATTTACGACCAGCATG	0.418													7	57					0	0	0	0	T	27500790	C	T	27500790	2	4	330	1	0	0	0	0	0	0	0	1	4688	547	19	1		1	DNAJC5G	2	27500790	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	1348531	27500790	215698583	18	61162											
PRKCE	5581	broad.mit.edu	37	chr2	46234756	46234756	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagcgcctgggcctggatGagttcaacttcatcaaggtg	9	9	12	11	1	3	1	3	1	0	0	3	2	3	2	3	3	2	1	3	3	3	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:46234756G>C	ENST00000306156.3	+	9	1546	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	PRKCE_ENST00000394874.1_Missense_Mutation_p.E130Q	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	407					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GGGCCTGGATGAGTTCAACTT	0.572													10	36					0	0	0	0	C	46234756	G	C	46234756	3	2	330	1	0	0	0	0	1	0	0	0	12591	1291	45	2	1253	2	PRKCE	2	46234756	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	18733966	46234756	196964617	19	61163											
EIF2AK3	9451	broad.mit.edu	37	chr2	88874590	88874590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttcaaatactattgaaGaggaggttctctcccttgac	12	13	7	9	0	3	3	1	2	2	1	5	4	4	4	1	2	1	1	1	2	5	6			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:88874590G>T	ENST00000303236.3	-	13	2712	c.2411C>A	c.(2410-2412)tCt>tAt	p.S804Y	EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.S653Y	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	804	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TACTATTGAAGAGGAGGTTCT	0.418													24	93					1.10923e-09	1.22655e-09	1	0	T	88874590	G	T	88874590	3	4	330	1	0	0	0	0	1	0	0	0	5034	942	33	2	959	2	EIF2AK3	2	88874590	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	42639834	88874590	154324783	20	61164											
CASP8	841	broad.mit.edu	37	chr2	202149973	202149973	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaataactgtgtttcctacCgaaaccctgcagagggaacc	12	9	9	11	1	0	2	0	1	0	1	1	4	1	3	4	1	5	2	4	1	5	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:202149973C>T	ENST00000358485.4	+	8	1610	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R329*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R430*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R413*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R398*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	413					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGTTTCCTACCGAAACCCTGC	0.488										HNSCC(4;0.00038)			20	34					0	0	0	0	T	202149973	C	T	202149973	4	4	330	1	0	0	0	0	0	1	0	0	2702	644	23	1	1544	1	CASP8	2	202149973	Nonsense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	113275383	202149973	41049400	21	61165											
CHL1	10752	broad.mit.edu	37	chr3	439980	439980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatagaggtatttgagccGggagctgaacatatagttcg	12	10	12	7	2	0	3	0	2	0	1	1	4	0	4	2	2	3	3	2	2	6	6			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:439980G>A	ENST00000256509.2	+	25	3807	c.3165G>A	c.(3163-3165)ccG>ccA	p.P1055P	CHL1_ENST00000397491.2_Silent_p.P1039P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1039					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TATTTGAGCCGGGAGCTGAAC	0.388													4	38					0	0	0	0	A	439980	G	A	439980	2	1	330	1	0	0	0	0	0	0	0	1	3378	1103	39	1		1	CHL1	3	439980	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08		439980	197582450	22	61166											
SRGAP3	9901	broad.mit.edu	37	chr3	9036108	9036108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccagtcctccgaggcgCggtggtacaggagcagcgag	8	4	15	14	4	0	0	0	0	0	0	2	3	2	1	4	4	3	2	4	4	1	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:9036108C>T	ENST00000383836.3	-	19	2754	c.2327G>A	c.(2326-2328)cGc>cAc	p.R776H	SRGAP3_ENST00000360413.3_Missense_Mutation_p.R752H	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	776	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTCCGAGGCGCGGTGGTACAG	0.587			T	RAF1	pilocytic astrocytoma								11	88					0	0	0	0	T	9036108	C	T	9036108	3	4	330	1	0	0	0	0	1	0	0	0	15237	768	27	1	988	1	SRGAP3	3	9036108	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	8596128	9036108	188986322	23	61167											
TGFBR2	7048	broad.mit.edu	37	chr3	30732942	30732942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgtgtgagacgttgactGagtgctgggaccacgaccca	8	9	15	9	2	0	3	0	3	0	1	0	6	0	4	2	2	1	2	2	2	0	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:30732942G>A	ENST00000295754.5	+	7	1937	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	519	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.E519K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACGTTGACTGAGTGCTGGGA	0.617													11	52					0	0	0	0	A	30732942	G	A	30732942	3	1	330	1	0	0	0	0	1	0	0	0	15916	1291	45	2	1660	2	TGFBR2	3	30732942	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	21696834	30732942	167289488	24	61168											
SCAP	22937	broad.mit.edu	37	chr3	47476622	47476622	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggggagtttcagcagtGggtagctgggatgtacaaaa	12	8	16	5	0	1	0	1	0	0	0	1	2	1	2	0	4	3	6	0	4	5	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:47476622G>C	ENST00000265565.5	-	3	540	c.128C>G	c.(127-129)cCa>cGa	p.P43R	SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	43					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	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi 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)		TTTCAGCAGTGGGTAGCTGGG	0.498													5	26					0	0	0	0	C	47476622	G	C	47476622	3	2	330	1	0	0	0	0	1	0	0	0	13963	1348	47	4	3795	4	SCAP	3	47476622	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	16743680	47476622	150545808	25	61169											
CACNA2D2	9254	broad.mit.edu	37	chr3	50413396	50413396	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcctcctctccttacctCttccttgttctcatcctcta	3	19	1	18	0	5	0	1	0	5	0	11	0	8	0	6	0	1	1	6	0	2	6			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:50413396C>G	ENST00000435965.1	-	19	1944	c.1771G>C	c.(1771-1773)Gag>Cag	p.E591Q	CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E522Q|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E591Q			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	591					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	ctccttacctcttccttgttc	0.592													13	61					0	0	0	0	G	50413396	C	G	50413396	3	3	330	1	0	0	0	0	1	0	0	0	2574	922	32	2	1771	2	CACNA2D2	3	50413396	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	2936774	50413396	147609034	26	61170			1	92		2	2	13	C		6.783442e-05
CACNA2D2	9254	broad.mit.edu	37	chr3	50413408	50413408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttacctcttccttgttctCatcctctagctccgcatcca	5	15	3	18	1	3	0	1	0	3	0	8	0	7	0	6	0	2	3	6	0	2	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:50413408C>T	ENST00000435965.1	-	19	1932	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E587K|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.E587K|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E587K|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E587K|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E587K|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E518K|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E587K			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	587					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	tccttgttctcatcctctAGC	0.587													12	64					0	0	0	0	T	50413408	C	T	50413408	3	4	330	1	0	0	0	0	1	0	0	0	2574	835	29	2	1783	2	CACNA2D2	3	50413408	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	12	50413408	147609022	27	61171			1	92		2	2	13	C		6.783442e-05
ARHGAP31	57514	broad.mit.edu	37	chr3	119133479	119133479	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagacattgcccagcatggCctggagatggtggagccctg	9	7	14	11	0	0	2	0	0	0	2	0	4	0	3	3	4	3	1	3	4	0	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:119133479C>A	ENST00000264245.4	+	12	3235	c.2703C>A	c.(2701-2703)ggC>ggA	p.G901G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	901					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCCAGCATGGCCTGGAGATGG	0.567													13	74					2.27111e-07	2.45237e-07	1	0	A	119133479	C	A	119133479	2	1	330	1	0	0	0	0	0	0	0	1	882	726	26	4		4	ARHGAP31	3	119133479	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	68720071	119133479	78888951	28	61172											
ABTB1	80325	broad.mit.edu	37	chr3	127396349	127396349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcccttgtcctgacggcttCaacagctgccctgacatctg	6	12	8	15	1	2	2	1	2	1	0	4	2	4	2	3	1	3	2	3	1	1	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:127396349C>G	ENST00000468137.1	+	8	994	c.378C>G	c.(376-378)ttC>ttG	p.F126L	ABTB1_ENST00000453791.2_Missense_Mutation_p.F126L|ABTB1_ENST00000393363.3_Missense_Mutation_p.F126L|ABTB1_ENST00000232744.8_Missense_Mutation_p.F268L			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	268	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CTGACGGCTTCAACAGCTGCC	0.607													20	89					0	0	0	0	G	127396349	C	G	127396349	3	3	330	1	0	0	0	0	1	0	0	0	102	825	29	2	838	2	ABTB1	3	127396349	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	8262870	127396349	70626081	29	61173											
EPHB1	2047	broad.mit.edu	37	chr3	134920369	134920369	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtatgctcaggggcatCgctgctggcatgaagtacct	7	10	15	9	1	1	1	1	1	0	0	2	1	1	1	1	4	3	7	1	4	3	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:134920369C>A	ENST00000398015.3	+	12	2554	c.2184C>A	c.(2182-2184)atC>atA	p.I728I	EPHB1_ENST00000493838.1_Silent_p.I289I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	728	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCAGGGGCATCGCTGCTGGCA	0.522													28	138					2.47511e-08	2.71083e-08	1	0	A	134920369	C	A	134920369	2	1	330	1	0	0	0	0	0	0	0	1	5212	874	31	3		3	EPHB1	3	134920369	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	7524020	134920369	63102061	30	61174											
PIK3CB	5291	broad.mit.edu	37	chr3	138433523	138433523	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttacgatggttttacacagGagctcagtaccatgaaaaag	14	10	9	8	1	1	1	1	1	0	0	1	3	1	2	1	2	4	3	1	2	5	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:138433523G>A	ENST00000477593.1	-	8	1162	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	PIK3CB_ENST00000289153.2_Silent_p.L363L			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	363	C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTTTACACAGGAGCTCAGTAC	0.373													9	60					0	0	0	0	A	138433523	G	A	138433523	2	1	330	1	0	0	0	0	0	0	0	1	11986	1161	41	2		2	PIK3CB	3	138433523	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	3513154	138433523	59588907	31	61175											
RTP1	132112	broad.mit.edu	37	chr3	186917822	186917822	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacggtcctgctgctgatCatctacctgcagttctcttt	5	14	8	14	1	3	1	1	1	2	0	5	1	4	1	3	1	4	4	3	1	1	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:186917822C>T	ENST00000312295.4	+	2	786	c.756C>T	c.(754-756)atC>atT	p.I252I	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	252					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TGCTGCTGATCATCTACCTGC	0.597													15	64					0	0	0	0	T	186917822	C	T	186917822	2	4	330	1	0	0	0	0	0	0	0	1	13818	816	29	2		2	RTP1	3	186917822	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	48484299	186917822	11104608	32	61176											
CLDN16	10686	broad.mit.edu	37	chr3	190122681	190122681	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtacattaaagtccgcatCtgctttgttgctggagccac	8	12	9	12	2	1	0	0	0	1	0	2	1	2	1	3	1	4	5	3	1	3	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:190122681C>T	ENST00000264734.2	+	3	806	c.558C>T	c.(556-558)atC>atT	p.I186I	CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	186					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		AAGTCCGCATCTGCTTTGTTG	0.507													7	45					0	0	0	0	T	190122681	C	T	190122681	2	4	330	1	0	0	0	0	0	0	0	1	3507	903	32	2		2	CLDN16	3	190122681	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	3204859	190122681	7899749	33	61177											
HES1	3280	broad.mit.edu	37	chr3	193855479	193855479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctggcccgcagctgcgctGagcacagacccaagtgtgct	7	8	12	14	2	1	2	0	1	1	1	1	2	1	2	2	1	4	5	2	1	1	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:193855479G>A	ENST00000232424.3	+	4	536	c.300G>A	c.(298-300)ctG>ctA	p.L100L		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	100					endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CAGCTGCGCTGAGCACAGACC	0.672													7	39					0	0	0	0	A	193855479	G	A	193855479	2	1	330	1	0	0	0	0	0	0	0	1	7115	1277	45	2		2	HES1	3	193855479	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	3732798	193855479	4166951	34	61178											
TACC3	10460	broad.mit.edu	37	chr4	1725454	1725454	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctcactccgcaacaGgtgacttttcagacacctct	8	11	5	17	1	3	2	2	1	1	1	6	2	6	2	4	1	1	1	4	1	1	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:1725454G>C	ENST00000313288.4	+	3	268		c.e3-1			NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3							centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CTCCGCAACAGGTGACTTTTC	0.537													9	54					0	0	0	0	C	1725454	G	C	1725454	5	2	330	1	0	0	0	0	0	0	1	0	15594	1014	35	4	168	4	TACC3	4	1725454	Splice_Site	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08		1725454	189428822	35	61179											
STK32B	55351	broad.mit.edu	37	chr4	5332963	5332963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaggtactccttccaggatGaggaggacatgttcatggtg	9	11	13	8	0	1	1	1	1	0	0	3	4	3	4	2	5	1	2	2	5	2	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:5332963G>A	ENST00000282908.5	+	4	699	c.277G>A	c.(277-279)Gag>Aag	p.E93K	STK32B_ENST00000512636.1_Missense_Mutation_p.E46K|STK32B_ENST00000510398.1_Missense_Mutation_p.E46K	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	93	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CTTCCAGGATGAGGAGGACAT	0.532													6	44					0	0	0	0	A	5332963	G	A	5332963	3	1	330	1	0	0	0	0	1	0	0	0	15388	1291	45	2	291	2	STK32B	4	5332963	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	3607509	5332963	185821313	36	61180											
TAPT1	202018	broad.mit.edu	37	chr4	16168327	16168327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggttgcgggaggattcGacagcttctcttccattttg	6	14	12	9	2	1	0	0	0	1	0	4	3	2	2	1	3	3	3	1	3	0	6			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:16168327G>A	ENST00000405303.2	-	13	1486	c.1403C>T	c.(1402-1404)tCg>tTg	p.S468L	TAPT1_ENST00000304584.8_3'UTR|TAPT1_ENST00000399920.3_Missense_Mutation_p.S357L	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	468						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						GGGAGGATTCGACAGCTTCTC	0.463													7	43					0	0	0	0	A	16168327	G	A	16168327	3	1	330	1	0	0	0	0	1	0	0	0	15645	1059	37	1	308	1	TAPT1	4	16168327	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	10835364	16168327	174985949	37	61181											
GPR125	166647	broad.mit.edu	37	chr4	22389832	22389832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttctaaaggcgccacGtgcattttaatatcattgtc	11	14	7	9	2	2	1	1	1	1	0	3	1	2	1	1	1	2	1	1	1	5	6			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:22389832G>T	ENST00000334304.5	-	19	3731	c.3462C>A	c.(3460-3462)caC>caA	p.H1154Q	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1154					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAGGCGCCACGTGCATTTTAA	0.458													13	50					2.27111e-07	2.45237e-07	1	0	T	22389832	G	T	22389832	3	4	330	1	0	0	0	0	1	0	0	0	6688	1136	40	3	507	3	GPR125	4	22389832	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	6221505	22389832	168764444	38	61182											
LRRC66	339977	broad.mit.edu	37	chr4	52860589	52860589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatggaaggcagccttatCaggatctgagggaacttcag	11	10	12	8	0	4	1	3	1	1	0	4	4	4	4	1	4	2	1	1	4	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:52860589C>T	ENST00000343457.3	-	4	2605	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	867						integral to membrane		p.D867N(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GCAGCCTTATCAGGATCTGAG	0.368													5	41					0	0	0	0	T	52860589	C	T	52860589	3	4	330	1	0	0	0	0	1	0	0	0	9082	826	29	2	47	2	LRRC66	4	52860589	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	30470757	52860589	138293687	39	61183											
POU4F2	5458	broad.mit.edu	37	chr4	147561481	147561481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgggctgcatgagcgacGtggacgccgacccgcgggac	8	4	16	13	6	0	1	0	1	0	0	0	5	0	3	2	3	2	2	2	3	0	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:147561481G>A	ENST00000281321.3	+	2	999	c.751G>A	c.(751-753)Gtg>Atg	p.V251M		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	251	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.V251M(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CATGAGCGACGTGGACGCCGA	0.692													5	28					0	0	0	0	A	147561481	G	A	147561481	3	1	330	1	0	0	0	0	1	0	0	0	12350	1145	40	1	757	1	POU4F2	4	147561481	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	94700892	147561481	43592795	40	61184											
PALLD	23022	broad.mit.edu	37	chr4	169611869	169611869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggagtgaaatccaagactCtccagatttccgaattctac	13	10	8	10	1	2	3	0	1	2	2	5	5	4	4	3	1	1	0	3	1	4	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:169611869C>T	ENST00000335742.7	+	7	1662	c.305C>T	c.(304-306)tCt>tTt	p.S102F	PALLD_ENST00000333488.4_Missense_Mutation_p.S361F|PALLD_ENST00000512127.1_Missense_Mutation_p.S102F|PALLD_ENST00000505667.1_Missense_Mutation_p.S484F|PALLD_ENST00000261509.6_Missense_Mutation_p.S484F			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	484					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATCCAAGACTCTCCAGATTTC	0.537									Pancreatic Cancer, Familial Clustering of				15	74					0	0	0	0	T	169611869	C	T	169611869	3	4	330	1	0	0	0	0	1	0	0	0	11478	913	32	2	1473	2	PALLD	4	169611869	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	22050388	169611869	21542407	41	61185											
ZFP42	132625	broad.mit.edu	37	chr4	188923976	188923976	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaacatgagccagcaactGaagaaacgggcaaagacaag	20	2	11	8	1	0	4	0	2	0	2	0	5	0	4	1	1	5	2	1	1	7	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:188923976G>A	ENST00000326866.4	+	4	423	c.15G>A	c.(13-15)ctG>ctA	p.L5L	ZFP42_ENST00000509524.1_Silent_p.L5L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	5					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L5L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GCCAGCAACTGAAGAAACGGG	0.542													15	44					0	0	0	0	A	188923976	G	A	188923976	2	1	330	1	0	0	0	0	0	0	0	1	17745	1277	45	2		2	ZFP42	4	188923976	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	19312107	188923976	2230300	42	61186											
SLC6A3	6531	broad.mit.edu	37	chr5	1403077	1403077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcagaacttgtaggccGcatagatgggcaccatggcc	9	7	14	11	1	0	2	0	0	0	2	0	2	0	2	3	4	2	5	3	4	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:1403077G>A	ENST00000270349.9	-	13	1854	c.1727C>T	c.(1726-1728)gCg>gTg	p.A576V	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A576V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	576	Interaction with TGFB1I1.				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CTTGTAGGCCGCATAGATGGG	0.632													3	34					0	0	0	0	A	1403077	G	A	1403077	3	1	330	1	0	0	0	0	1	0	0	0	14773	1087	38	1	147	1	SLC6A3	5	1403077	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08		1403077	179512183	43	61187											
PRDM9	56979	broad.mit.edu	37	chr5	23510065	23510065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagctttcatgtgtcaccGaaggcaggccatcaaactcc	11	8	8	14	1	3	0	3	0	0	0	4	1	4	0	4	2	2	2	4	2	2	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:23510065G>A	ENST00000296682.3	+	4	412	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	77	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGTGTCACCGAAGGCAGGCC	0.468										HNSCC(3;0.000094)			9	36					0	0	0	0	A	23510065	G	A	23510065	3	1	330	1	0	0	0	0	1	0	0	0	12543	1058	37	1	240	1	PRDM9	5	23510065	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	22106988	23510065	157405195	44	61188											
RAI14	26064	broad.mit.edu	37	chr5	34757697	34757697	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaacacgacagtgagggcaAgaccgcgtaagctgaaacac	16	3	11	11	3	0	3	0	2	0	1	0	4	0	3	1	1	3	3	1	1	4	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:34757697A>G	ENST00000265109.3	+	3	448	c.161A>G	c.(160-162)aAg>aGg	p.K54R	RAI14_ENST00000428746.2_Missense_Mutation_p.K54R|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000397449.1_Missense_Mutation_p.K47R|RAI14_ENST00000506376.1_Missense_Mutation_p.K46R|RAI14_ENST00000515799.1_Missense_Mutation_p.K57R|RAI14_ENST00000512629.1_Missense_Mutation_p.K54R|RAI14_ENST00000503673.1_Missense_Mutation_p.K54R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	54						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGTGAGGGCAAGACCGCGTAA	0.552													8	45					0	0	0	0	G	34757697	A	G	34757697	3	3	330	1	0	0	0	0	1	0	0	0	13090	72	3	5	232	5	RAI14	5	34757697	Missense_Mutation	SNP	A	TCGA-CV-A45P-01A-11D-A24D-08	11247632	34757697	146157563	45	61189											
PRLR	5618	broad.mit.edu	37	chr5	35065601	35065601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccagggcgtatcctggtCagtctcagaatggaagcttt	9	10	12	10	1	2	1	2	0	1	1	4	2	3	2	2	3	2	2	2	3	3	2	rs139147779		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:35065601C>T	ENST00000382002.5	-	10	1885	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N	PRLR_ENST00000310101.5_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.D386N|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.D386N|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	487					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTATCCTGGTCAGTCTCAGAA	0.493													17	68					0	0	0	0	T	35065601	C	T	35065601	3	4	330	1	0	0	0	0	1	0	0	0	12611	826	29	2	413	2	PRLR	5	35065601	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	307904	35065601	145849659	46	61190											
MIER3	166968	broad.mit.edu	37	chr5	56224689	56224689	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtccatgcagtcattccttCtaagaaaaattttaaaataa	16	13	4	8	1	2	1	1	0	1	1	4	1	4	1	2	0	1	1	2	0	6	6			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:56224689C>G	ENST00000381226.3	-	10	860		c.e10-1		CTD-2310F14.1_ENST00000606813.1_RNA|MIER3_ENST00000381213.3_Intron|MIER3_ENST00000381199.3_Splice_Site|MIER3_ENST00000409421.1_Splice_Site			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		GTCATTCCTTCTAAGaaaaat	0.338													4	13					0	0	0	0	G	56224689	C	G	56224689	5	3	330	1	0	0	0	0	0	0	1	0	9651	928	32	2		2	MIER3	5	56224689	Splice_Site	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	21159088	56224689	124690571	47	61191											
ERAP2	64167	broad.mit.edu	37	chr5	96235857	96235857	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgattttacatctggtggAgtttgtcattcggatcccaa	9	15	10	7	1	2	1	1	1	1	0	4	3	3	3	1	3	1	1	1	3	2	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:96235857A>G	ENST00000437043.3	+	10	2247	c.1536A>G	c.(1534-1536)ggA>ggG	p.G512G	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Silent_p.G467G|ERAP2_ENST00000515095.1_3'UTR	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	512					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CATCTGGTGGAGTTTGTCATT	0.408													6	51					0	0	0	0	G	96235857	A	G	96235857	2	3	330	1	0	0	0	0	0	0	0	1	5242	291	11	5		5	ERAP2	5	96235857	Silent	SNP	A	TCGA-CV-A45P-01A-11D-A24D-08	40011168	96235857	84679403	48	61192											
SEMA6A	57556	broad.mit.edu	37	chr5	115783320	115783320	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcatggagccccggcgCgagtgggtgagctccttctc	4	9	14	14	3	2	1	1	1	1	0	4	3	3	2	3	3	3	2	3	3	0	1	rs78791241	by1000genomes	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:115783320C>T	ENST00000343348.6	-	19	2869	c.2082G>A	c.(2080-2082)tcG>tcA	p.S694S	SEMA6A_ENST00000513137.1_Silent_p.S121S|SEMA6A_ENST00000503865.1_Silent_p.S73S|SEMA6A_ENST00000282394.6_Silent_p.S171S|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.S694S|SEMA6A_ENST00000257414.8_Silent_p.S711S	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	694					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AGCCCCGGCGCGAGTGGGTGA	0.627													20	108					0	0	0	0	T	115783320	C	T	115783320	2	4	330	1	0	0	0	0	0	0	0	1	14126	755	27	1		1	SEMA6A	5	115783320	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	19547463	115783320	65131940	49	61193											
RAPGEF6	51735	broad.mit.edu	37	chr5	130797624	130797624	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgatgtactcagtcggttCaatattacgaaacaaatcaa	16	11	6	8	3	3	0	3	0	0	0	5	2	3	0	0	1	3	2	0	1	7	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:130797624C>A	ENST00000509018.1	-	19	2843	c.2638G>T	c.(2638-2640)Gaa>Taa	p.E880*	RAPGEF6_ENST00000512052.1_Nonsense_Mutation_p.E595*|RAPGEF6_ENST00000308008.6_Nonsense_Mutation_p.E880*|RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.E885*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.E880*|FNIP1_ENST00000514667.1_Nonsense_Mutation_p.E930*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.E880*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	880	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCAGTCGGTTCAATATTACGA	0.408													5	35					0.000602214	0.000621118	1	0	A	130797624	C	A	130797624	4	1	330	1	0	0	0	0	0	1	0	0	13130	835	29	2	2670	2	RAPGEF6	5	130797624	Nonsense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	15014304	130797624	50117636	50	61194											
RAPGEF6	51735	broad.mit.edu	37	chr5	130797642	130797642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaatattacgaaacaaatCaaagtccctcattgacagct	16	11	4	10	1	3	1	3	1	0	0	4	2	4	1	1	0	3	1	1	0	6	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:130797642C>G	ENST00000509018.1	-	19	2825	c.2620G>C	c.(2620-2622)Gat>Cat	p.D874H	RAPGEF6_ENST00000512052.1_Missense_Mutation_p.D589H|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.D874H|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.D879H|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D874H|FNIP1_ENST00000514667.1_Missense_Mutation_p.D924H|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.D874H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	874	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CGAAACAAATCAAAGTCCCTC	0.408													6	45					0	0	0	0	G	130797642	C	G	130797642	3	3	330	1	0	0	0	0	1	0	0	0	13130	826	29	2	2688	2	RAPGEF6	5	130797642	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	18	130797642	50117618	51	61195											
PCDHB10	56126	broad.mit.edu	37	chr5	140573209	140573209	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttgctgagaattctcctGagacgccgctggctgttttt	5	15	11	10	2	1	2	0	2	1	2	2	4	1	2	2	1	1	5	2	1	1	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:140573209G>C	ENST00000239446.4	+	1	1268	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		362	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATTCTCCTGAGACGCCGCT	0.418													12	41					0	0	0	0	C	140573209	G	C	140573209	3	2	330	1	0	0	0	0	1	0	0	0	11606	1291	45	2	1086	2	PCDHB10	5	140573209	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	9775567	140573209	40342051	52	61196											
PCDHGA4	56111	broad.mit.edu	37	chr5	140735118	140735118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatacagtgaagattttGcgggtagaggtggaaataat	15	10	14	2	1	0	4	0	1	0	3	0	6	0	5	0	3	2	1	0	3	6	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:140735118G>T	ENST00000571252.1	+	1	351	c.351G>T	c.(349-351)ttG>ttT	p.L117F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGATTTTGCGGGTAGAGG	0.453													6	39					0.0215528	0.0219342	1	0	T	140735118	G	T	140735118	3	4	330	1	0	0	0	0	1	0	0	0	11627	1310	46	4	353	4	PCDHGA4	5	140735118	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	161909	140735118	40180142	53	61197											
SLC26A2	1836	broad.mit.edu	37	chr5	149359973	149359973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctcaggccaagtatcttCttgggctcaaccttcctcgg	7	12	8	14	1	4	0	2	0	3	0	7	0	5	0	3	3	1	2	3	3	3	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:149359973C>G	ENST00000286298.4	+	3	1085	c.817C>G	c.(817-819)Ctt>Gtt	p.L273V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	273						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAAGTATCTTCTTGGGCTCAA	0.453													18	91					0	0	0	0	G	149359973	C	G	149359973	3	3	330	1	0	0	0	0	1	0	0	0	14605	913	32	2	823	2	SLC26A2	5	149359973	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	8624855	149359973	31555287	54	61198											
CDHR2	54825	broad.mit.edu	37	chr5	176011783	176011783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggctgtggtggttgcctCggatgtggacaccagtgccc	4	10	17	10	1	0	0	0	0	0	0	1	2	0	2	3	6	2	2	3	6	0	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:176011783C>T	ENST00000510636.1	+	19	2775	c.2501C>T	c.(2500-2502)tCg>tTg	p.S834L	CDHR2_ENST00000506348.1_Missense_Mutation_p.S834L|CDHR2_ENST00000261944.5_Missense_Mutation_p.S834L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	834	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTGGTTGCCTCGGATGTGGAC	0.612													16	134					0	0	0	0	T	176011783	C	T	176011783	3	4	330	1	0	0	0	0	1	0	0	0	3148	893	31	1	2571	1	CDHR2	5	176011783	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	26651810	176011783	4903477	55	61199											
SLC34A1	6569	broad.mit.edu	37	chr5	176814778	176814778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagtgctggaggtgagctCtgccatccccatcatcatgg	8	9	11	13	0	3	1	2	1	1	0	4	2	4	2	4	3	3	2	4	3	0	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:176814778C>T	ENST00000324417.5	+	6	639	c.548C>T	c.(547-549)tCt>tTt	p.S183F	SLC34A1_ENST00000512593.1_Missense_Mutation_p.S183F	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	183					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGTGAGCTCTGCCATCCCC	0.602													6	32					0	0	0	0	T	176814778	C	T	176814778	3	4	330	1	0	0	0	0	1	0	0	0	14655	913	32	2	566	2	SLC34A1	5	176814778	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	802995	176814778	4100482	56	61200											
MDC1	9656	broad.mit.edu	37	chr6	30673794	30673794	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaagatgtttctggctctGagagttaaggggcttttggg	7	14	15	5	0	2	2	0	1	2	2	2	3	2	2	0	4	1	5	0	4	2	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:30673794G>A	ENST00000376406.3	-	10	3813	c.3166C>T	c.(3166-3168)Cag>Tag	p.Q1056*	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Nonsense_Mutation_p.Q792*	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1056	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TTCTGGCTCTGAGAGTTAAGG	0.537								Other conserved DNA damage response genes					13	77					0	0	0	0	A	30673794	G	A	30673794	4	1	330	1	0	0	0	0	0	1	0	0	9472	1299	45	2	3127	2	MDC1	6	30673794	Nonsense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08		30673794	140441273	57	61201											
PFDN6	10471	broad.mit.edu	37	chr6	33258544	33258544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcggcagtcagagcaacaGagggagacccttgctcagct	11	5	14	11	1	2	3	2	0	0	3	2	5	2	3	1	2	5	4	1	2	1	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:33258544G>T	ENST00000395131.1	+	5	718	c.312G>T	c.(310-312)caG>caT	p.Q104H	PFDN6_ENST00000374610.2_Missense_Mutation_p.Q104H|PFDN6_ENST00000374607.1_Missense_Mutation_p.Q104H|PFDN6_ENST00000463584.1_Intron|PFDN6_ENST00000374606.5_Missense_Mutation_p.Q104H			O15212	PFD6_HUMAN	prefoldin subunit 6	104					'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly	prefoldin complex	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(1)	2						CAGAGCAACAGAGGGAGACCC	0.592													5	17					5.9392e-07	6.38325e-07	1	0	T	33258544	G	T	33258544	3	4	330	1	0	0	0	0	1	0	0	0	11831	933	33	2	326	2	PFDN6	6	33258544	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	2584750	33258544	137856523	58	61202											
FKBP5	2289	broad.mit.edu	37	chr6	35544827	35544827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtatatcctgcggtcccGctcgttgtgctccttggcct	2	13	12	14	4	0	0	0	0	0	0	4	0	3	0	4	3	2	4	4	3	2	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:35544827G>A	ENST00000536438.1	-	11	1525	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	FKBP5_ENST00000540787.1_Missense_Mutation_p.R225W|FKBP5_ENST00000539068.1_Missense_Mutation_p.R404W|FKBP5_ENST00000357266.4_Missense_Mutation_p.R404W	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	404					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTGCGGTCCCGCTCGTTGTGC	0.522													13	80					0	0	0	0	A	35544827	G	A	35544827	3	1	330	1	0	0	0	0	1	0	0	0	5956	1086	38	1	171	1	FKBP5	6	35544827	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	2286283	35544827	135570240	59	61203											
CUL9	23113	broad.mit.edu	37	chr6	43153816	43153816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctccccatgtgccacaagaGagaaaagccggggacagcgg	12	3	14	12	2	0	2	0	0	0	2	1	4	1	3	4	3	3	1	4	3	3	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:43153816G>A	ENST00000252050.4	+	4	958	c.874G>A	c.(874-876)Gag>Aag	p.E292K	CUL9_ENST00000354495.3_Missense_Mutation_p.E292K|CUL9_ENST00000372647.2_Missense_Mutation_p.E292K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	292					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGCCACAAGAGAGAAAAGCCG	0.592													13	64					0	0	0	0	A	43153816	G	A	43153816	3	1	330	1	0	0	0	0	1	0	0	0	4093	943	33	2	884	2	CUL9	6	43153816	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	7608989	43153816	127961251	60	61204											
ABCC10	89845	broad.mit.edu	37	chr6	43415659	43415659	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcgtggacaccagccagctgGagctggcccagctcaggtct	7	6	14	14	1	2	0	1	0	1	0	2	2	2	2	3	4	4	3	3	4	0	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:43415659G>C	ENST00000244533.3	+	16	4218	c.3859G>C	c.(3859-3861)Gag>Cag	p.E1287Q	ABCC10_ENST00000372530.4_Missense_Mutation_p.E1315Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1315	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGCCAGCTGGAGCTGGCCCA	0.612													4	31					0	0	0	0	C	43415659	G	C	43415659	3	2	330	1	0	0	0	0	1	0	0	0	50	1175	41	2	3921	2	ABCC10	6	43415659	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	261843	43415659	127699408	61	61205											
DSE	29940	broad.mit.edu	37	chr6	116757339	116757339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagctgcttctccttgtaGaccaaatacacctgggagag	11	9	9	12	0	1	2	0	0	1	2	2	3	1	2	3	1	3	3	3	1	3	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:116757339G>C	ENST00000331677.3	+	7	2152	c.1708G>C	c.(1708-1710)Gac>Cac	p.D570H	DSE_ENST00000537543.1_Missense_Mutation_p.D589H|DSE_ENST00000452085.3_Missense_Mutation_p.D570H|DSE_ENST00000359564.2_Missense_Mutation_p.D570H			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	570					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCTCCTTGTAGACCAAATACA	0.502													9	20					0	0	0	0	C	116757339	G	C	116757339	3	2	330	1	0	0	0	0	1	0	0	0	4810	942	33	2	1726	2	DSE	6	116757339	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	73341680	116757339	54357728	62	61206											
MAP7	9053	broad.mit.edu	37	chr6	136698928	136698928	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcagctgtgcttttacttCtggccaggaacgaatgtgtg	8	12	13	8	1	1	0	0	0	1	0	1	2	1	1	1	3	4	3	1	3	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:136698928C>G	ENST00000354570.3	-	7	1126	c.716G>C	c.(715-717)aGa>aCa	p.R239T	MAP7_ENST00000454590.1_Missense_Mutation_p.R261T|MAP7_ENST00000432797.2_Missense_Mutation_p.R93T|MAP7_ENST00000544465.1_Missense_Mutation_p.R224T|MAP7_ENST00000438100.2_Missense_Mutation_p.R224T	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	239					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GCTTTTACTTCTGGCCAGGAA	0.522													6	60					0	0	0	0	G	136698928	C	G	136698928	3	3	330	1	0	0	0	0	1	0	0	0	9335	913	32	2	1581	2	MAP7	6	136698928	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	19941589	136698928	34416139	63	61207											
ARID1B	57492	broad.mit.edu	37	chr6	157528521	157528521	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcgcctcagagacttgtGctggagaccctctgtaaact	8	11	10	12	1	2	2	1	0	1	2	3	4	2	2	2	1	2	2	2	1	2	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:157528521G>T	ENST00000346085.5	+	20	6247	c.6246G>T	c.(6244-6246)gtG>gtT	p.V2082V	ARID1B_ENST00000275248.4_Silent_p.V2064V|ARID1B_ENST00000367148.1_Silent_p.V2122V|ARID1B_ENST00000350026.5_Silent_p.V2069V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2069					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGAGACTTGTGCTGGAGACCC	0.517													55	167					5.22555e-25	5.94989e-25	1	0	T	157528521	G	T	157528521	2	4	330	1	0	0	0	0	0	0	0	1	916	1306	46	4		4	ARID1B	6	157528521	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	20829593	157528521	13586546	64	61208											
RAC1	5879	broad.mit.edu	37	chr7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacctggagtgctcggCgctcacacagcgaggcctca	11	6	11	13	3	2	0	2	0	0	0	3	2	2	1	2	3	3	2	2	3	3	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.A178V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GAGTGCTCGGCGCTCACACAG	0.567													17	79					0	0	0	0	T	6441974	C	T	6441974	3	4	330	1	0	0	0	0	1	0	0	0	13056	768	27	1	559	1	RAC1	7	6441974	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08		6441974	152696689	65	61209											
NPSR1	387129	broad.mit.edu	37	chr7	34724253	34724253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacatggaggagaaagaaGaagtcaagaatgaccttctt	16	8	10	7	0	2	5	1	1	1	4	3	7	3	6	2	2	0	0	2	2	5	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:34724253G>C	ENST00000360581.1	+	2	365	c.237G>C	c.(235-237)aaG>aaC	p.K79N	NPSR1_ENST00000465305.1_Missense_Mutation_p.K79N|NPSR1_ENST00000381553.3_Missense_Mutation_p.K79N|NPSR1_ENST00000531252.1_Missense_Mutation_p.K79N|NPSR1_ENST00000359791.1_Missense_Mutation_p.K79N|NPSR1_ENST00000381539.3_Missense_Mutation_p.K79N|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Missense_Mutation_p.K79N	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	79						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GGAGAAAGAAGAAGTCAAGAA	0.438													10	37					0	0	0	0	C	34724253	G	C	34724253	3	2	330	1	0	0	0	0	1	0	0	0	10671	933	33	2	243	2	NPSR1	7	34724253	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	28282279	34724253	124414410	66	61210											
ABCB1	5243	broad.mit.edu	37	chr7	87195485	87195485	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcctactataaacccagtGaaaaatgttgccattgactg	15	11	6	9	0	0	2	0	2	0	0	1	2	1	2	3	0	3	1	3	0	7	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:87195485G>A	ENST00000265724.3	-	8	1020	c.603C>T	c.(601-603)ttC>ttT	p.F201F	ABCB1_ENST00000543898.1_Silent_p.F137F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	201	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.F201Y(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TAAACCCAGTGAAAAATGTTG	0.403													14	41					0	0	0	0	A	87195485	G	A	87195485	2	1	330	1	0	0	0	0	0	0	0	1	40	1281	45	2		2	ABCB1	7	87195485	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	52471232	87195485	71943178	67	61211											
STAG3	10734	broad.mit.edu	37	chr7	99799597	99799597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtcgagtttgagggacaGaatggtggccttctgtgaac	8	11	15	7	1	1	3	0	2	1	1	2	5	1	4	1	3	1	2	1	3	2	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:99799597G>A	ENST00000426455.1	+	23	2734	c.2327G>A	c.(2326-2328)aGa>aAa	p.R776K	STAG3_ENST00000317296.5_Missense_Mutation_p.R776K|GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.R718K			Q9UJ98	STAG3_HUMAN	stromal antigen 3	776					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGAGGGACAGAATGGTGGCC	0.522													22	60					0	0	0	0	A	99799597	G	A	99799597	3	1	330	1	0	0	0	0	1	0	0	0	15334	942	33	2	2413	2	STAG3	7	99799597	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	12604112	99799597	59339066	68	61212											
MGAM	8972	broad.mit.edu	37	chr7	141770873	141770873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taatcttcatgtccgtggggGctacatcctgccctggcaag	7	11	11	12	1	2	0	1	0	1	0	4	0	4	0	3	3	2	2	3	3	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:141770873G>T	ENST00000475668.2	+	44	5195	c.5141G>T	c.(5140-5142)gGc>gTc	p.G1714V	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1714	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCCGTGGGGGCTACATCCTG	0.488													8	31					0.0477658	0.048397	1	0	T	141770873	G	T	141770873	3	4	330	1	0	0	0	0	1	0	0	0	9610	1218	42	4		4	MGAM	7	141770873	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	41971276	141770873	17367790	69	61213											
KCNU1	157855	broad.mit.edu	37	chr8	36793355	36793355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcatctcagatacctttaGgtgacaatgcaaaagaaaat	17	11	6	7	0	2	3	2	1	1	2	3	3	2	3	1	1	2	1	1	1	8	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:36793355G>C	ENST00000399881.3	+	27	3404	c.3367G>C	c.(3367-3369)Ggt>Cgt	p.G1123R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1123						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GATACCTTTAGGTGACAATGC	0.383													17	39					0	0	0	0	C	36793355	G	C	36793355	3	2	330	1	0	0	0	0	1	0	0	0	8146	1000	35	4	3473	4	KCNU1	8	36793355	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08		36793355	109570667	70	61214											
ST18	9705	broad.mit.edu	37	chr8	53071513	53071513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgtggcttccctgcagCgggtggaaaggttcaggatg	6	11	16	8	1	2	0	1	0	1	0	3	2	3	2	1	5	2	3	1	5	1	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:53071513C>T	ENST00000276480.7	-	15	2434	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	584						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R584H(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTCCCTGCAGCGGGTGGAAAG	0.592													28	108					0	0	0	0	T	53071513	C	T	53071513	3	4	330	1	0	0	0	0	1	0	0	0	15302	768	27	1	1440	1	ST18	8	53071513	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	16278158	53071513	93292509	71	61215											
ARFGEF1	10565	broad.mit.edu	37	chr8	68163661	68163661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctaagttatacagaagtCttctttgtttttcactggct	8	20	6	7	0	4	1	1	0	3	1	4	1	4	1	0	1	1	3	0	1	4	8			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:68163661C>G	ENST00000262215.3	-	19	3112	c.2723G>C	c.(2722-2724)aGa>aCa	p.R908T	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R362T	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	908					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATACAGAAGTCTTCTTTGTTT	0.348													6	39					0	0	0	0	G	68163661	C	G	68163661	3	3	330	1	0	0	0	0	1	0	0	0	854	913	32	2	2910	2	ARFGEF1	8	68163661	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	15092148	68163661	78200361	72	61216											
PLEKHF2	79666	broad.mit.edu	37	chr8	96166674	96166674	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatgtgttactgatttactCtccaaaagtgggaagacacc	14	11	8	8	0	1	2	0	1	1	1	2	3	1	3	2	1	2	1	2	1	6	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:96166674C>T	ENST00000315367.3	+	2	643	c.402C>T	c.(400-402)ctC>ctT	p.L134L	PLEKHF2_ENST00000519516.1_Silent_p.L134L	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	134						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					CTGATTTACTCTCCAAAAGTG	0.398													19	58					0	0	0	0	T	96166674	C	T	96166674	2	4	330	1	0	0	0	0	0	0	0	1	12139	900	32	2		2	PLEKHF2	8	96166674	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	28003013	96166674	50197348	73	61217											
STK3	6788	broad.mit.edu	37	chr8	99591900	99591900	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataattacaaaccgaattttCttcttcctcttccaattctc	11	17	1	12	1	4	0	0	0	4	0	7	1	6	0	3	0	2	0	3	0	5	8			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:99591900C>G	ENST00000523601.1	-	10	1423	c.1024G>C	c.(1024-1026)Gaa>Caa	p.E342Q	STK3_ENST00000419617.2_Missense_Mutation_p.E314Q	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	314					apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		ACCGAATTTTCTTCTTCCTCT	0.318													6	39					0	0	0	0	G	99591900	C	G	99591900	3	3	330	1	0	0	0	0	1	0	0	0	15385	922	32	2	551	2	STK3	8	99591900	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	3425226	99591900	46772122	74	61218											
NUDCD1	84955	broad.mit.edu	37	chr8	110334609	110334609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtcttgataccatgaatCacagtgcaggtaattataca	14	12	7	8	0	2	2	1	2	1	0	2	2	2	2	1	1	3	2	1	1	5	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:110334609C>T	ENST00000239690.4	-	2	576	c.202G>A	c.(202-204)Gat>Aat	p.D68N	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D39N	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	68										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TACCATGAATCACAGTGCAGG	0.338													7	15					0	0	0	0	T	110334609	C	T	110334609	3	4	330	1	0	0	0	0	1	0	0	0	10793	826	29	2	1585	2	NUDCD1	8	110334609	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	10742709	110334609	36029413	75	61219											
MED30	90390	broad.mit.edu	37	chr8	118540969	118540969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggataatcttcgccaactttCagttctcttcaggaagctga	10	13	8	10	1	4	1	2	1	2	0	6	3	4	3	1	2	2	2	1	2	3	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:118540969C>T	ENST00000297347.3	+	2	421	c.257C>T	c.(256-258)tCa>tTa	p.S86L	MED30_ENST00000522839.1_Missense_Mutation_p.S86L	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	86					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CGCCAACTTTCAGTTCTCTTC	0.413													20	46					0	0	0	0	T	118540969	C	T	118540969	3	4	330	1	0	0	0	0	1	0	0	0	9517	838	29	2	263	2	MED30	8	118540969	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	8206360	118540969	27823053	76	61220											
OPLAH	26873	broad.mit.edu	37	chr8	145112802	145112802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgggctcctgctgactcGggcccaaccacaaagaggcc	8	5	14	14	1	0	2	0	1	0	1	2	2	1	2	4	4	2	2	4	4	2	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:145112802G>A	ENST00000426825.1	-	9	1194	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	371							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CTGCTGACTCGGGCCCAACCA	0.672													11	17					0	0	0	0	A	145112802	G	A	145112802	2	1	330	1	0	0	0	0	0	0	0	1	10947	1103	39	1		1	OPLAH	8	145112802	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	26571833	145112802	1251220	77	61221											
IFNA21	3452	broad.mit.edu	37	chr9	21166096	21166096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgataaagagaaggatctCatgatttctgctctgacaac	13	13	8	7	0	3	4	1	3	3	1	4	6	3	5	0	1	2	1	0	1	4	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:21166096C>A	ENST00000380225.1	-	1	563	c.516G>T	c.(514-516)atG>atT	p.M172I		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	172					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAAGGATCTCATGATTTCTG	0.383													33	150					4.31634e-10	4.79593e-10	1	0	A	21166096	C	A	21166096	3	1	330	1	0	0	0	0	1	0	0	0	7591	826	29	2	57	2	IFNA21	9	21166096	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08		21166096	120047335	78	61222											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			13	22					0	0	0	0	A	21971120	G	A	21971120	4	1	330	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	805024	21971120	119242311	79	61223											
CCIN	881	broad.mit.edu	37	chr9	36170445	36170445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctctcagacatgccctatCgggcagcagcacttagtgcc	9	8	10	14	1	1	1	1	0	1	1	3	1	1	1	2	1	5	4	2	1	2	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:36170445C>T	ENST00000335119.2	+	1	1057	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	316					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CATGCCCTATCGGGCAGCAGC	0.547													18	68					0	0	0	0	T	36170445	C	T	36170445	3	4	330	1	0	0	0	0	1	0	0	0	2905	875	31	1	948	1	CCIN	9	36170445	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	14199325	36170445	105042986	80	61224											
CDK20	23552	broad.mit.edu	37	chr9	90588899	90588899	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcctggttagggaagcCgtcctccaaccgccttaggg	7	7	14	13	2	0	0	0	0	0	0	2	1	2	1	6	4	2	1	6	4	4	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:90588899C>G	ENST00000375883.3	-	2	433	c.127G>C	c.(127-129)Ggc>Cgc	p.G43R	CDK20_ENST00000605159.1_Missense_Mutation_p.G43R|CDK20_ENST00000336654.5_Missense_Mutation_p.G56R|CDK20_ENST00000375871.4_Missense_Mutation_p.G43R|CDK20_ENST00000325303.8_Missense_Mutation_p.G43R	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	43	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						TTAGGGAAGCCGTCCTCCAAC	0.587													4	64					0	0	0	0	G	90588899	C	G	90588899	3	3	330	1	0	0	0	0	1	0	0	0	3166	652	23	3	941	3	CDK20	9	90588899	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	54418454	90588899	50624532	81	61225											
NOL8	55035	broad.mit.edu	37	chr9	95077246	95077246	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttctgtttgccacaggtgTtctcctctccttctaacagg	5	16	8	12	0	4	0	0	0	4	0	6	0	4	0	3	2	2	3	3	2	1	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:95077246T>C	ENST00000545558.1	-	7	2153	c.1661A>G	c.(1660-1662)aAc>aGc	p.N554S	NOL8_ENST00000442668.2_Missense_Mutation_p.N554S|NOL8_ENST00000535387.1_Missense_Mutation_p.N554S|NOL8_ENST00000358855.4_Missense_Mutation_p.N486S|NOL8_ENST00000542053.1_Missense_Mutation_p.N486S			Q76FK4	NOL8_HUMAN	nucleolar protein 8	554					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GCCACAGGTGTTCTCCTCTCC	0.478													9	46					0	0	0	0	C	95077246	T	C	95077246	3	2	330	1	0	0	0	0	1	0	0	0	10597	1725	60	5	1886	5	NOL8	9	95077246	Missense_Mutation	SNP	T	TCGA-CV-A45P-01A-11D-A24D-08	4488347	95077246	46136185	82	61226											
TNC	3371	broad.mit.edu	37	chr9	117825457	117825457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgtgaggtttcccatatCtggaacctcctctgcataag	9	12	8	12	0	2	1	0	1	2	0	4	2	4	2	3	2	2	2	3	2	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:117825457C>T	ENST00000350763.4	-	13	4183	c.3772G>A	c.(3772-3774)Gat>Aat	p.D1258N	TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.D1258N|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1258	Fibronectin type-III 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTTCCCATATCTGGAACCTCC	0.488													5	26					0	0	0	0	T	117825457	C	T	117825457	3	4	330	1	0	0	0	0	1	0	0	0	16364	913	32	2	2897	2	TNC	9	117825457	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	22748211	117825457	23387974	83	61227											
PFKFB3	5209	broad.mit.edu	37	chr10	6273225	6273225	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcccccactctgcttgaaaGacgaactgtctgtcacattt	9	12	6	14	1	3	2	1	1	2	1	4	3	4	2	2	0	2	1	2	0	2	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:6273225G>C	ENST00000379785.1	+	16	1933		c.e16-1		PFKFB3_ENST00000379789.4_Intron|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379775.4_Intron|PFKFB3_ENST00000360521.2_Intron|PFKFB3_ENST00000540253.1_Intron|PFKFB3_ENST00000379782.3_Splice_Site			Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3						fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CTGCTTGAAAGACGAACTGTC	0.413													6	42					0	0	0	0	C	6273225	G	C	6273225	5	2	330	1	0	0	0	0	0	0	1	0	11834	957	33	2		2	PFKFB3	10	6273225	Splice_Site	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08		6273225	129261522	84	61228											
MLLT10	8028	broad.mit.edu	37	chr10	21823581	21823581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactccctcttagatggtctCtagcgaccggcccgtgtcac	7	10	9	15	3	3	1	1	0	2	1	5	2	4	1	3	2	2	0	3	2	3	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:21823581C>G	ENST00000377072.3	+	2	356	c.8C>G	c.(7-9)tCt>tGt	p.S3C	MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000446906.2_Missense_Mutation_p.S3C|MLLT10_ENST00000377091.2_Missense_Mutation_p.S3C|MLLT10_ENST00000377059.3_Missense_Mutation_p.S3C|MLLT10_ENST00000307729.7_Missense_Mutation_p.S3C|MLLT10_ENST00000377100.3_Missense_Mutation_p.S3C	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	3					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TAGATGGTCTCTAGCGACCGG	0.612			T	"MLL, PICALM, CDK6"	AL								13	84					0	0	0	0	G	21823581	C	G	21823581	3	3	330	1	0	0	0	0	1	0	0	0	9695	913	32	2	10	2	MLLT10	10	21823581	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	15550356	21823581	113711166	85	61229											
SVIL	6840	broad.mit.edu	37	chr10	29776152	29776152	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaagcagcagtggggagaGagcaggaggaagcagtcccc	13	2	18	8	0	0	1	0	0	0	1	1	6	1	5	2	5	4	4	2	5	2	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:29776152G>C	ENST00000375398.2	-	26	4874	c.4425C>G	c.(4423-4425)ctC>ctG	p.L1475L	SVIL_ENST00000535393.1_Silent_p.L389L|SVIL_ENST00000355867.4_Silent_p.L1475L|SVIL_ENST00000375400.3_Silent_p.L1049L|SVIL_ENST00000538146.1_Silent_p.L267L|PTCHD3P1_ENST00000413405.1_RNA			O95425	SVIL_HUMAN	supervillin	1475	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGTGGGGAGAGAGCAGGAGGA	0.517													3	23					0	0	0	0	C	29776152	G	C	29776152	2	2	330	1	0	0	0	0	0	0	0	1	15511	929	33	2		2	SVIL	10	29776152	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	7952571	29776152	105758595	86	61230											
ANKRD30A	91074	broad.mit.edu	37	chr10	37430689	37430689	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggctgcacccttggcGgaaagaacacctgacacagc	12	5	12	12	1	0	3	0	2	0	1	0	5	0	4	2	3	3	2	2	3	2	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:37430689G>A	ENST00000374660.1	+	7	795	c.696G>A	c.(694-696)gcG>gcA	p.A232A	ANKRD30A_ENST00000361713.1_Silent_p.A232A|ANKRD30A_ENST00000602533.1_Silent_p.A232A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	288						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A232A(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACCCTTGGCGGAAAGAACAC	0.483													3	13					0	0	0	0	A	37430689	G	A	37430689	2	1	330	1	0	0	0	0	0	0	0	1	658	1103	39	1		1	ANKRD30A	10	37430689	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	7654537	37430689	98104058	87	61231											
ZNF248	57209	broad.mit.edu	37	chr10	38120759	38120759	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgagttctttgatgtacAatgaggtttgacttcacaca	10	15	10	6	0	2	4	1	4	1	0	2	4	2	4	0	1	1	3	0	1	2	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:38120759A>T	ENST00000395867.3	-	6	2074	c.1524T>A	c.(1522-1524)atT>atA	p.I508I	ZNF248_ENST00000357328.4_Silent_p.I508I|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTTGATGTACAATGAGGTTTG	0.413													10	63					0	0	0	0	T	38120759	A	T	38120759	2	4	330	1	0	0	0	0	0	0	0	1	17888	126	5	5		5	ZNF248	10	38120759	Silent	SNP	A	TCGA-CV-A45P-01A-11D-A24D-08	690070	38120759	97413988	88	61232											
ADO	84890	broad.mit.edu	37	chr10	64564963	64564963	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgcagccgggcttcccCgagaacctgagcaagctgaa	10	5	12	14	3	0	3	0	2	0	1	1	5	1	3	5	1	5	4	5	1	3	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:64564963C>T	ENST00000373783.1	+	1	448	c.144C>T	c.(142-144)ccC>ccT	p.P48P	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	48							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGGGCTTCCCCGAGAACCTGA	0.726													8	18					0	0	0	0	T	64564963	C	T	64564963	2	4	330	1	0	0	0	0	0	0	0	1	325	639	23	1		1	ADO	10	64564963	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	26444204	64564963	70969784	89	61233											
DNMBP	23268	broad.mit.edu	37	chr10	101639891	101639891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggtcacattcttttggcgGaggagatgcatcttgaggct	7	14	13	7	1	3	2	1	1	2	1	3	4	3	3	0	5	1	2	0	5	0	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:101639891G>A	ENST00000342239.3	-	16	4388	c.4297C>T	c.(4297-4299)Ccg>Tcg	p.P1433S	DNMBP_ENST00000324109.4_Missense_Mutation_p.P1409S|DNMBP_ENST00000540316.1_Missense_Mutation_p.P345S|DNMBP_ENST00000543621.1_Missense_Mutation_p.P655S			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1409	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTTTTGGCGGAGGAGATGCA	0.542													12	125					0	0	0	0	A	101639891	G	A	101639891	3	1	330	1	0	0	0	0	1	0	0	0	4710	1174	41	2	516	2	DNMBP	10	101639891	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	37074928	101639891	33894856	90	61234											
DNMBP	23268	broad.mit.edu	37	chr10	101639938	101639938	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcaagaccccgaggtaaagGatacagccatgctgctgggg	11	5	15	10	1	0	1	0	0	0	1	0	3	0	2	3	5	4	4	3	5	4	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:101639938G>C	ENST00000342239.3	-	16	4341	c.4250C>G	c.(4249-4251)tCc>tGc	p.S1417C	DNMBP_ENST00000324109.4_Missense_Mutation_p.S1393C|DNMBP_ENST00000540316.1_Missense_Mutation_p.S329C|DNMBP_ENST00000543621.1_Missense_Mutation_p.S639C			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1393	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CGAGGTAAAGGATACAGCCAT	0.567													10	98					0	0	0	0	C	101639938	G	C	101639938	3	2	330	1	0	0	0	0	1	0	0	0	4710	1174	41	2	563	2	DNMBP	10	101639938	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	47	101639938	33894809	91	61235											
PCGF6	84108	broad.mit.edu	37	chr10	105107010	105107010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaccaggtttaggtacttCtagacctctttctttataga	9	17	6	9	0	3	2	0	0	3	2	3	2	3	2	2	2	2	2	2	2	6	10			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:105107010C>G	ENST00000369847.3	-	5	725	c.658G>C	c.(658-660)Gaa>Caa	p.E220Q	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Intron	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	220					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TTAGGTACTTCTAGACCTCTT	0.299													7	17					0	0	0	0	G	105107010	C	G	105107010	3	3	330	1	0	0	0	0	1	0	0	0	11649	922	32	2	418	2	PCGF6	10	105107010	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	3467072	105107010	30427737	92	61236											
HRAS	3265	broad.mit.edu	37	chr11	534285	534285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcgcactcttgcccacaCcgccggcgcccaccaccacc	7	4	7	23	4	2	0	1	0	1	0	2	0	2	0	7	1	2	1	7	1	0	1	rs104894226		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:534285C>A	ENST00000417302.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			7	44					1.06961e-07	1.16593e-07	1	0	A	534285	C	A	534285	3	1	330	1	0	0	0	0	1	0	0	0	7398	507	18	4	614	4	HRAS	11	534285	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08		534285	134472231	93	61237											
CCDC86	79080	broad.mit.edu	37	chr11	60610238	60610238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcttcggggcaaagaagcGaaaaggttcttcatcccagg	11	7	13	10	3	2	1	1	0	1	1	4	2	3	1	1	5	1	3	1	5	4	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:60610238G>A	ENST00000227520.5	+	1	695	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	214					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GCAAAGAAGCGAAAAGGTTCT	0.612													6	17					0	0	0	0	A	60610238	G	A	60610238	3	1	330	1	0	0	0	0	1	0	0	0	2888	1058	37	1	643	1	CCDC86	11	60610238	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	60075953	60610238	74396278	94	61238											
NXF1	10482	broad.mit.edu	37	chr11	62567851	62567851	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacaggctacaactgacctGatgtaggtggactggtctcg	10	9	12	10	1	1	2	0	2	1	0	2	3	1	3	1	4	2	2	1	4	3	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:62567851G>A	ENST00000531709.2	-	10	1127	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000532297.1_Silent_p.I338I|NXF1_ENST00000439713.2_Silent_p.I338I|NXF1_ENST00000294172.2_Silent_p.I338I	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	338	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAACTGACCTGATGTAGGTGG	0.582													5	32					0	0	0	0	A	62567851	G	A	62567851	2	1	330	1	0	0	0	0	0	0	0	1	10853	1280	45	2		2	NXF1	11	62567851	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	1957613	62567851	72438665	95	61239											
GPR137	56834	broad.mit.edu	37	chr11	64054480	64054480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgtcggccggagatgagccGaggcttgtaagtactcggga	8	7	17	9	5	0	2	0	1	0	1	2	5	0	3	2	4	2	3	2	4	2	3	rs138261831	by1000genomes	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:64054480G>A	ENST00000539851.1	+	3	868	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	GPR137_ENST00000411458.1_Missense_Mutation_p.R192Q|GPR137_ENST00000313074.3_Missense_Mutation_p.R134Q|GPR137_ENST00000377702.4_Missense_Mutation_p.R134Q|GPR137_ENST00000438980.2_Missense_Mutation_p.R134Q	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	134						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GAGATGAGCCGAGGCTTGTAA	0.612													8	34					0	0	0	0	A	64054480	G	A	64054480	3	1	330	1	0	0	0	0	1	0	0	0	6694	1058	37	1	589	1	GPR137	11	64054480	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	1486629	64054480	70952036	96	61240											
BCL9L	283149	broad.mit.edu	37	chr11	118769637	118769637	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcttctcagaggggatGatcctcgacaagtcgaactc	9	10	11	11	2	1	2	1	1	1	1	6	5	2	3	1	3	1	1	1	3	2	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:118769637G>T	ENST00000334801.3	-	8	4951	c.3987C>A	c.(3985-3987)atC>atA	p.I1329I	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1329	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CAGAGGGGATGATCCTCGACA	0.622													7	58					0.00307968	0.00314812	1	0	T	118769637	G	T	118769637	2	4	330	1	0	0	0	0	0	0	0	1	1386	1280	45	2		2	BCL9L	11	118769637	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	54715157	118769637	16236879	97	61241											
HINFP	25988	broad.mit.edu	37	chr11	119004898	119004898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacaagagggatcgggccTgggaacgtcgctgaacgaga	12	4	15	10	4	0	3	0	1	0	2	2	6	0	5	2	3	2	1	2	3	3	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:119004898T>C	ENST00000350777.2	+	10	1307	c.1244T>C	c.(1243-1245)cTg>cCg	p.L415P	HINFP_ENST00000527410.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	415	Interaction with NPAT.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGATCGGGCCTGGGAACGTCG	0.567											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	50					0	0	0	0	C	119004898	T	C	119004898	3	2	330	1	0	0	0	0	1	0	0	0	7160	1580	55	5	1278	5	HINFP	11	119004898	Missense_Mutation	SNP	T	TCGA-CV-A45P-01A-11D-A24D-08	235261	119004898	16001618	98	61242											
VSIG2	23584	broad.mit.edu	37	chr11	124619673	124619673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagttgtacactggcttagGagccccctcggaagagctgc	8	8	12	13	1	0	1	0	0	0	1	1	3	0	3	3	3	4	4	3	3	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:124619673G>A	ENST00000403470.1	-	4	572	c.517C>T	c.(517-519)Cct>Tct	p.P173S	VSIG2_ENST00000326621.5_Missense_Mutation_p.P173S			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	173	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ACTGGCTTAGGAGCCCCCTCG	0.537													13	50					0	0	0	0	A	124619673	G	A	124619673	3	1	330	1	0	0	0	0	1	0	0	0	17320	1174	41	2	482	2	VSIG2	11	124619673	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	5614775	124619673	10386843	99	61243											
CLEC1A	51267	broad.mit.edu	37	chr12	10241822	10241822	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagagggagccctgtgctCtgcagggaacagaagagaaa	14	5	15	7	0	1	4	0	1	1	3	1	7	1	6	1	2	4	2	1	2	4	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:10241822C>T	ENST00000315330.4	-	2	178		c.e2-1		CLEC1A_ENST00000420265.2_Intron|CLEC1A_ENST00000457018.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GCCCTGTGCTCTGCAGGGAAC	0.517													7	33					0	0	0	0	T	10241822	C	T	10241822	5	4	330	1	0	0	0	0	0	0	1	0	3535	927	32	2	747	2	CLEC1A	12	10241822	Splice_Site	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08		10241822	123610073	100	61244											
CPNE8	144402	broad.mit.edu	37	chr12	39124119	39124119	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgtgactgccctctagaaAgttccctatagcttgttgta	9	15	8	9	0	1	2	0	1	1	1	2	2	2	2	2	0	2	4	2	0	5	8			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:39124119A>T	ENST00000331366.5	-	11	860	c.764T>A	c.(763-765)cTt>cAt	p.L255H	CPNE8_ENST00000360449.3_Missense_Mutation_p.L243H	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	255										NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CCCTCTAGAAAGTTCCCTATA	0.289													6	36					0	0	0	0	T	39124119	A	T	39124119	3	4	330	1	0	0	0	0	1	0	0	0	3848	72	3	5	970	5	CPNE8	12	39124119	Missense_Mutation	SNP	A	TCGA-CV-A45P-01A-11D-A24D-08	28882297	39124119	94727776	101	61245											
LRRK2	120892	broad.mit.edu	37	chr12	40702421	40702421	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaagtgccacagttggcaTagatgtgaaagactggccta	13	8	12	8	0	0	3	0	1	0	2	0	3	0	3	2	2	1	3	2	2	4	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:40702421T>A	ENST00000298910.7	+	29	4170	c.4112T>A	c.(4111-4113)aTa>aAa	p.I1371K		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1371	Roc.		I -> V (in PARK8; could be a polymorphism; dbSNP:rs17466213).		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACAGTTGGCATAGATGTGAAA	0.373													10	26					0	0	0	0	A	40702421	T	A	40702421	3	1	330	1	0	0	0	0	1	0	0	0	9097	1406	49	5	4226	5	LRRK2	12	40702421	Missense_Mutation	SNP	T	TCGA-CV-A45P-01A-11D-A24D-08	1578302	40702421	93149474	102	61246											
CSAD	51380	broad.mit.edu	37	chr12	53563911	53563911	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcggggaccattttccctCtgaaaaagaaaatgcagagg	13	8	10	10	1	1	3	0	1	1	2	3	4	2	4	3	3	1	1	3	3	4	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:53563911C>T	ENST00000267085.4	-	10	962		c.e10-1		CSAD_ENST00000444623.1_Splice_Site|CSAD_ENST00000379846.1_Splice_Site|CSAD_ENST00000379843.3_Splice_Site|CSAD_ENST00000453446.2_Splice_Site	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase						carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CATTTTCCCTCTGAAAAAGAA	0.527													5	22					0	0	0	0	T	53563911	C	T	53563911	5	4	330	1	0	0	0	0	0	0	1	0	3955	927	32	2	866	2	CSAD	12	53563911	Splice_Site	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	12861490	53563911	80287984	103	61247											
ATP5G2	517	broad.mit.edu	37	chr12	54070067	54070067	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagggagcgccgactgcaGaaatgaggccaactccgcgg	11	4	14	12	4	0	2	0	1	0	1	1	4	1	3	3	3	4	1	3	3	3	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:54070067G>T	ENST00000338662.5	-	0	1115				ATP5G2_ENST00000549164.1_De_novo_Start_OutOfFrame|ATP5G2_ENST00000394349.3_De_novo_Start_OutOfFrame	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)						ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GCCGACTGCAGAAATGAGGCC	0.627											OREG0021876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	28					1.23904e-05	1.30127e-05	1	0	T	54070067	G	T	54070067	1	4	330	1	0	0	0	0	0	0	0	0	1158	957	33	2		2	ATP5G2	12	54070067	Translation_Start_Site	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	506156	54070067	79781828	104	61248											
LGR5	8549	broad.mit.edu	37	chr12	71960661	71960661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatctcttcctcaaaccGtctgcaatcagttacctaat	10	14	3	14	1	5	0	3	0	3	0	8	0	6	0	3	0	3	2	3	0	4	3	rs148862507	byFrequency	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:71960661G>A	ENST00000266674.5	+	11	1350	c.1039G>A	c.(1039-1041)Gtc>Atc	p.V347I	LGR5_ENST00000540815.2_Missense_Mutation_p.V323I|LGR5_ENST00000536515.1_Missense_Mutation_p.V275I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	347						integral to plasma membrane	protein-hormone receptor activity	p.V347L(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCTCAAACCGTCTGCAATCA	0.403													8	32					0	0	0	0	A	71960661	G	A	71960661	3	1	330	1	0	0	0	0	1	0	0	0	8811	1145	40	1	1081	1	LGR5	12	71960661	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	17890594	71960661	61891234	105	61249											
CCDC41	51134	broad.mit.edu	37	chr12	94761952	94761952	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgttcaacagctgctttGagaatttcattgtctgactg	9	16	9	7	0	3	3	2	3	1	1	3	4	3	3	0	0	3	3	0	0	2	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:94761952G>C	ENST00000397809.5	-	10	1623	c.1074C>G	c.(1072-1074)ctC>ctG	p.L358L	CCDC41_ENST00000397807.2_Silent_p.L325L|CCDC41_ENST00000339839.5_Silent_p.L358L	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	350										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CAGCTGCTTTGAGAATTTCAT	0.328													4	18					0	0	0	0	C	94761952	G	C	94761952	2	2	330	1	0	0	0	0	0	0	0	1	2839	1277	45	2		2	CCDC41	12	94761952	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	22801291	94761952	39089943	106	61250											
CCDC60	160777	broad.mit.edu	37	chr12	119978475	119978475	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattacatcagctggctgcaGagccggatcaacatacccat	12	8	9	12	1	2	1	2	0	0	1	2	3	2	2	2	2	6	3	2	2	3	2	rs150338593		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:119978475G>C	ENST00000327554.2	+	14	2073	c.1608G>C	c.(1606-1608)caG>caC	p.Q536H	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	536										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GCTGGCTGCAGAGCCGGATCA	0.512													11	58					0	0	0	0	C	119978475	G	C	119978475	3	2	330	1	0	0	0	0	1	0	0	0	2858	933	33	2	1662	2	CCDC60	12	119978475	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	25216523	119978475	13873420	107	61251											
HNF1A	6927	broad.mit.edu	37	chr12	121437302	121437302	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcttcacctcagacaCtgaggcctccagtgagtccg	8	8	10	15	1	3	3	2	2	1	1	5	3	5	3	5	2	0	0	5	2	0	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:121437302C>G	ENST00000257555.6	+	9	1866	c.1640C>G	c.(1639-1641)aCt>aGt	p.T547S	HNF1A_ENST00000544413.1_Missense_Mutation_p.T554S|HNF1A_ENST00000541395.1_Missense_Mutation_p.T578S			P20823	HNF1A_HUMAN	HNF1 homeobox A	547					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCTCAGACACTGAGGCCTCC	0.687									Hepatic Adenoma, Familial Clustering of				6	44					0	0	0	0	G	121437302	C	G	121437302	3	3	330	1	0	0	0	0	1	0	0	0	7301	565	20	4	1674	4	HNF1A	12	121437302	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	1458827	121437302	12414593	108	61252											
FRY	10129	broad.mit.edu	37	chr13	32731436	32731436	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttatattactctcaagtaCgaaaagctgtagacaacatt	15	12	5	9	1	1	1	1	0	1	1	2	2	1	1	1	0	4	3	1	0	9	6			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr13:32731436C>T	ENST00000380250.3	+	16	2174	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCTCAAGTACGAAAAGCTGT	0.343													6	27					0	0	0	0	T	32731436	C	T	32731436	4	4	330	1	0	0	0	0	0	1	0	0	6111	528	19	1	1740	1	FRY	13	32731436	Nonsense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08		32731436	82438442	109	61253											
INTS6	26512	broad.mit.edu	37	chr13	51953685	51953685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaggttaggtgctcccatCatcctaacagctttcttcaa	10	14	6	11	0	3	0	2	0	1	0	5	0	5	0	2	2	3	3	2	2	4	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr13:51953685C>T	ENST00000311234.4	-	11	1771	c.1299G>A	c.(1297-1299)atG>atA	p.M433I	INTS6_ENST00000425000.1_Start_Codon_SNP_p.M1I|INTS6_ENST00000398119.2_Missense_Mutation_p.M420I|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000490542.1_Missense_Mutation_p.M117I|INTS6_ENST00000497989.1_Missense_Mutation_p.M255I	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	433					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GTGCTCCCATCATCCTAACAG	0.333													4	36					0	0	0	0	T	51953685	C	T	51953685	3	4	330	1	0	0	0	0	1	0	0	0	7835	826	29	2	1396	2	INTS6	13	51953685	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	19222249	51953685	63216193	110	61254											
TBC1D4	9882	broad.mit.edu	37	chr13	75898380	75898380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactgatctcacctgatttCattttcatactgtggggaca	10	14	7	10	0	3	2	3	2	1	0	4	3	3	3	1	2	1	0	1	2	1	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr13:75898380C>T	ENST00000377636.3	-	11	2537	c.2191G>A	c.(2191-2193)Gaa>Aaa	p.E731K	TBC1D4_ENST00000431480.2_Missense_Mutation_p.E731K|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Intron	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	731	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CACCTGATTTCATTTTCATAC	0.403													8	24					0	0	0	0	T	75898380	C	T	75898380	3	4	330	1	0	0	0	0	1	0	0	0	15716	835	29	2	1749	2	TBC1D4	13	75898380	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	23944695	75898380	39271498	111	61255											
COL4A2	1284	broad.mit.edu	37	chr13	111156284	111156284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgggtccccaggggaggcGaggcccccctggggcaccgg	5	3	19	14	2	0	0	0	0	0	0	1	2	1	1	6	8	0	1	6	8	0	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr13:111156284G>A	ENST00000360467.5	+	44	4535	c.4229G>A	c.(4228-4230)cGa>cAa	p.R1410Q	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1410	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGGGAGGCGAGGCCCCCCT	0.731													8	42					0	0	0	0	A	111156284	G	A	111156284	3	1	330	1	0	0	0	0	1	0	0	0	3720	1058	37	1	4399	1	COL4A2	13	111156284	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	35257904	111156284	4013594	112	61256											
RPGRIP1	57096	broad.mit.edu	37	chr14	21792998	21792998	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctattccttctatgactttGaaacccactgtaccccatta	10	14	3	14	0	1	2	0	2	1	0	2	2	2	2	5	0	2	1	5	0	5	7			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:21792998G>C	ENST00000206660.6	+	14	1984	c.1984G>C	c.(1984-1986)Gaa>Caa	p.E662Q	RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Intron|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E624Q|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E662Q			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	662					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTATGACTTTGAAACCCACTG	0.507													20	83					0	0	0	0	C	21792998	G	C	21792998	3	2	330	1	0	0	0	0	1	0	0	0	13634	1291	45	2	2038	2	RPGRIP1	14	21792998	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08		21792998	85556542	113	61257											
CHD8	57680	broad.mit.edu	37	chr14	21860805	21860805	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcgtggtgtggggactggaGagtcaccatattctccagga	8	11	14	8	1	2	1	1	0	1	1	4	4	2	3	2	5	0	0	2	5	1	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:21860805G>C	ENST00000399982.2	-	33	6696	c.6632C>G	c.(6631-6633)tCt>tGt	p.S2211C	CHD8_ENST00000557364.1_Missense_Mutation_p.S2211C|CHD8_ENST00000430710.3_Missense_Mutation_p.S1932C	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2211					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGGGACTGGAGAGTCACCATA	0.547													11	86					0	0	0	0	C	21860805	G	C	21860805	3	2	330	1	0	0	0	0	1	0	0	0	3360	942	33	2	1133	2	CHD8	14	21860805	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	67807	21860805	85488735	114	61258											
MDGA2	161357	broad.mit.edu	37	chr14	47530616	47530616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgtgtaatgaccatcCgctcagaacttcttaatgga	11	12	8	10	1	3	2	1	1	2	1	4	3	4	3	2	1	1	2	2	1	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:47530616C>T	ENST00000426342.1	-	7	1213	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	MDGA2_ENST00000439988.2_Missense_Mutation_p.R385Q|MDGA2_ENST00000399232.2_Missense_Mutation_p.R454Q|MDGA2_ENST00000357362.3_Missense_Mutation_p.R156Q	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	385	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.R156Q(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AATGACCATCCGCTCAGAACT	0.418													13	91					0	0	0	0	T	47530616	C	T	47530616	3	4	330	1	0	0	0	0	1	0	0	0	9476	652	23	1	1760	1	MDGA2	14	47530616	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	25669811	47530616	59818924	115	61259											
SYNE2	23224	broad.mit.edu	37	chr14	64434488	64434488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctttttggatgtcctgtCaataaaacgggatctggatg	9	14	11	7	1	2	0	1	0	1	0	4	3	4	3	2	3	1	0	2	3	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:64434488C>T	ENST00000358025.3	+	11	1282	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	SYNE2_ENST00000344113.4_Missense_Mutation_p.S351L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S351L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	351					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATGTCCTGTCAATAAAACGG	0.398													12	44					0	0	0	0	T	64434488	C	T	64434488	3	4	330	1	0	0	0	0	1	0	0	0	15537	838	29	2	1090	2	SYNE2	14	64434488	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	16903872	64434488	42915052	116	61260											
ACOT2	10965	broad.mit.edu	37	chr14	74036233	74036233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggagcagccggtcacgctgCgcgcgtccctgcgcgacgag	5	4	16	16	9	1	0	1	0	0	0	2	3	2	1	2	2	4	2	2	2	0	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:74036233C>T	ENST00000238651.5	+	1	471	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	97					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GGTCACGCTGCGCGCGTCCCT	0.751													14	31					0	0	0	0	T	74036233	C	T	74036233	3	4	330	1	0	0	0	0	1	0	0	0	152	768	27	1	291	1	ACOT2	14	74036233	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	9601745	74036233	33313307	117	61261											
TC2N	123036	broad.mit.edu	37	chr14	92265368	92265368	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccctgagaatttttccttGaagaagaactactgggtaca	12	12	8	9	0	0	4	0	2	0	3	2	5	2	4	3	1	3	1	3	1	6	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:92265368G>C	ENST00000435962.2	-	6	925	c.602C>G	c.(601-603)tCa>tGa	p.S201*	TC2N_ENST00000556018.1_Nonsense_Mutation_p.S201*|TC2N_ENST00000360594.5_Nonsense_Mutation_p.S201*|TC2N_ENST00000340892.5_Nonsense_Mutation_p.S201*	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	201						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		ATTTTTCCTTGAAGAAGAACT	0.323													7	18					0	0	0	0	C	92265368	G	C	92265368	4	2	330	1	0	0	0	0	0	1	0	0	15759	1294	45	2	898	2	TC2N	14	92265368	Nonsense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	18229135	92265368	15084172	118	61262											
SERPINA5	5104	broad.mit.edu	37	chr14	95057231	95057231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcaaatatccaggtgtctGaggtgggttcagaagctcct	10	11	11	9	0	3	2	2	1	1	1	5	2	5	2	2	3	1	2	2	3	3	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:95057231G>A	ENST00000329597.7	+	5	1246	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	SERPINA5_ENST00000554866.1_Missense_Mutation_p.E346K|SERPINA5_ENST00000553780.1_Missense_Mutation_p.E346K|SERPINA5_ENST00000554276.1_Missense_Mutation_p.E346K	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	346					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCAGGTGTCTGAGGTGGGTTC	0.483													5	55					0	0	0	0	A	95057231	G	A	95057231	3	1	330	1	0	0	0	0	1	0	0	0	14179	1291	45	2	1046	2	SERPINA5	14	95057231	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	2791863	95057231	12292309	119	61263											
TCL1A	8115	broad.mit.edu	37	chr14	96178588	96178588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acactaagcgccagaaactgGagtctgaggatcggtatcgt	12	8	12	9	3	1	2	0	1	1	1	3	4	1	4	1	3	2	1	1	3	3	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:96178588G>T	ENST00000402399.1	-	2	395	c.266C>A	c.(265-267)tCc>tAc	p.S89Y	TCL1A_ENST00000554012.1_Missense_Mutation_p.S89Y|TCL1A_ENST00000555202.1_Missense_Mutation_p.S89Y|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000556450.1_Missense_Mutation_p.S89Y|RP11-164H13.1_ENST00000553445.1_RNA	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	89					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCAGAAACTGGAGTCTGAGGA	0.567			T	TRA@	T-CLL								15	121					1.3612e-06	1.44943e-06	1	0	T	96178588	G	T	96178588	3	4	330	1	0	0	0	0	1	0	0	0	15798	1174	41	2	86	2	TCL1A	14	96178588	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	1121357	96178588	11170952	120	61264											
HERC2	8924	broad.mit.edu	37	chr15	28387409	28387409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaaacagacggggcaacGgtgttcttttgtcaagggcc	11	8	13	9	2	2	2	1	0	1	2	2	2	2	2	1	4	2	2	1	4	4	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:28387409G>T	ENST00000261609.7	-	76	11783	c.11675C>A	c.(11674-11676)cCg>cAg	p.P3892Q		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3892					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGGCAACGGTGTTCTTTT	0.483													6	38					3.59834e-05	3.74487e-05	1	0	T	28387409	G	T	28387409	3	4	330	1	0	0	0	0	1	0	0	0	7108	1116	39	3	2901	3	HERC2	15	28387409	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08		28387409	74143983	121	61265											
C15orf52	388115	broad.mit.edu	37	chr15	40630808	40630808	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgccctccaggtgacccCtctatgccttggttccttgc	5	11	8	17	1	1	1	0	1	1	0	3	1	3	1	6	2	2	1	6	2	1	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:40630808C>A	ENST00000559313.1	-	5	588	c.573G>T	c.(571-573)gaG>gaT	p.E191D		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	191										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CAGGTGACCCCTCTATGCCTT	0.587											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	64					7.21436e-19	8.17391e-19	1	0	A	40630808	C	A	40630808	3	1	330	1	0	0	0	0	1	0	0	0	1812	680	24	4	1059	4	C15orf52	15	40630808	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	12243399	40630808	61900584	122	61266											
DMXL2	23312	broad.mit.edu	37	chr15	51763484	51763484	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttttctttgtaagatggtCtttctgcaggcaccggtggt	6	17	11	7	1	3	1	0	0	3	1	3	1	3	1	1	4	1	3	1	4	1	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:51763484C>G	ENST00000251076.5	-	29	7612	c.7325G>C	c.(7324-7326)aGa>aCa	p.R2442T	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.R1806T|DMXL2_ENST00000543779.2_Missense_Mutation_p.R2443T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2442						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTAAGATGGTCTTTCTGCAGG	0.423													21	70					0	0	0	0	G	51763484	C	G	51763484	3	3	330	1	0	0	0	0	1	0	0	0	4632	913	32	2	1845	2	DMXL2	15	51763484	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	11132676	51763484	50767908	123	61267											
DYX1C1	161582	broad.mit.edu	37	chr15	55790509	55790509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtctgctgccagctgtaatCgctaacctgaagaggcattc	9	10	10	12	2	1	2	0	1	1	1	3	2	1	2	2	1	4	5	2	1	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:55790509C>T	ENST00000321149.3	-	2	386	c.19G>A	c.(19-21)Gat>Aat	p.D7N	DYX1C1_ENST00000348518.3_Missense_Mutation_p.D7N|DYX1C1_ENST00000380679.1_Missense_Mutation_p.D7N|DYX1C1_ENST00000457155.2_Missense_Mutation_p.D7N|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.D7N	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	7	CS.|Mediates interaction with ESR1 and STUB1.				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CAGCTGTAATCGCTAACCTGA	0.572													3	32					0	0	0	0	T	55790509	C	T	55790509	3	4	330	1	0	0	0	0	1	0	0	0	4898	884	31	1	1382	1	DYX1C1	15	55790509	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	4027025	55790509	46740883	124	61268											
ALPK3	57538	broad.mit.edu	37	chr15	85410593	85410593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagattgctaccaaactccGagggtgagtggttcttgggg	8	10	15	8	1	1	2	0	1	1	1	2	3	2	2	2	4	3	3	2	4	2	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:85410593G>A	ENST00000258888.5	+	13	5542	c.5375G>A	c.(5374-5376)cGa>cAa	p.R1792Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1792	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACCAAACTCCGAGGGTGAGTG	0.547													6	30					0	0	0	0	A	85410593	G	A	85410593	3	1	330	1	0	0	0	0	1	0	0	0	546	1058	37	1	5425	1	ALPK3	15	85410593	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	29620084	85410593	17120799	125	61269											
SNX29	92017	broad.mit.edu	37	chr16	12162924	12162924	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgcacagatgcccccctCggaagcctggagaacgggac	9	5	12	15	2	1	2	0	0	1	2	2	5	1	4	4	3	4	1	4	3	2	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:12162924C>T	ENST00000566228.1	+	10	1323	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L	SNX29_ENST00000323433.4_Silent_p.L33L|SNX29_ENST00000306030.3_Silent_p.L33L	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	33					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ATGCCCCCCTCGGAAGCCTGG	0.498													11	66					0	0	0	0	T	12162924	C	T	12162924	2	4	330	1	0	0	0	0	0	0	0	1	14986	871	31	1		1	SNX29	16	12162924	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08		12162924	78191829	126	61270											
TBX6	6911	broad.mit.edu	37	chr16	30100023	30100023	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtcactcacctgtgggttCtggtaggctgtcacggagat	6	11	15	9	1	4	1	3	0	1	1	4	2	4	1	1	5	0	3	1	5	1	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:30100023C>T	ENST00000553607.1	-	4	1452	c.759G>A	c.(757-759)caG>caA	p.Q253Q	TBX6_ENST00000279386.2_Silent_p.Q253Q|TBX6_ENST00000395224.2_Silent_p.Q253Q			O95947	TBX6_HUMAN	T-box 6	253					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						CCTGTGGGTTCTGGTAGGCTG	0.617													30	167					0	0	0	0	T	30100023	C	T	30100023	2	4	330	1	0	0	0	0	0	0	0	1	15756	912	32	2		2	TBX6	16	30100023	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	17937099	30100023	60254730	127	61271											
MYLK3	91807	broad.mit.edu	37	chr16	46762977	46762977	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcttgctctcgaaggcGtcatagagctggatcaggtt	7	12	13	9	2	3	1	2	0	1	1	4	3	3	2	0	3	3	4	0	3	2	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:46762977G>A	ENST00000394809.4	-	7	1846	c.1731C>T	c.(1729-1731)gaC>gaT	p.D577D	MYLK3_ENST00000536476.1_Silent_p.D236D	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	577	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCTCGAAGGCGTCATAGAGCT	0.577													17	85					0	0	0	0	A	46762977	G	A	46762977	2	1	330	1	0	0	0	0	0	0	0	1	10128	1136	40	1		1	MYLK3	16	46762977	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	16662954	46762977	43591776	128	61272											
LONP2	83752	broad.mit.edu	37	chr16	48311250	48311250	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctacttgctttctctaggCgcacctatgttggcagcatg	6	14	10	11	1	1	0	0	0	1	0	2	0	1	0	1	2	4	6	1	2	3	6			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:48311250C>T	ENST00000285737.4	+	8	1336	c.1241_splice	c.e8-1	p.R415_splice	LONP2_ENST00000535754.1_Splice_Site_p.R371_splice	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	415					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTCTCTAGGCGCACCTATGT	0.473													12	49					0	0	0	0	T	48311250	C	T	48311250	5	4	330	1	0	0	0	0	0	0	1	0	8957	782	27	1	1273	1	LONP2	16	48311250	Splice_Site	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	1548273	48311250	42043503	129	61273											
MMP2	4313	broad.mit.edu	37	chr16	55517036	55517036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaagtgggacaagaaccaGatcacatacaggtgccgggg	13	4	13	11	1	1	2	1	0	0	2	1	3	1	3	3	4	3	0	3	4	4	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:55517036G>A	ENST00000219070.4	+	2	878	c.369G>A	c.(367-369)caG>caA	p.Q123Q	MMP2_ENST00000543485.1_Silent_p.Q47Q|MMP2_ENST00000570308.1_Silent_p.Q47Q|MMP2_ENST00000437642.2_Silent_p.Q73Q	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	123	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	ACAAGAACCAGATCACATACA	0.597													9	49					0	0	0	0	A	55517036	G	A	55517036	2	1	330	1	0	0	0	0	0	0	0	1	9727	933	33	2		2	MMP2	16	55517036	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	7205786	55517036	34837717	130	61274											
MMP2	4313	broad.mit.edu	37	chr16	55517971	55517971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggacccagagacagtggatGatgcctttgctcgtgccttc	7	11	12	11	1	0	2	0	1	0	1	2	5	0	4	3	2	3	1	3	2	0	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:55517971G>A	ENST00000219070.4	+	3	933	c.424G>A	c.(424-426)Gat>Aat	p.D142N	MMP2_ENST00000543485.1_Missense_Mutation_p.D66N|MMP2_ENST00000570308.1_Missense_Mutation_p.D66N|MMP2_ENST00000437642.2_Missense_Mutation_p.D92N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	142	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GACAGTGGATGATGCCTTTGC	0.498													11	77					0	0	0	0	A	55517971	G	A	55517971	3	1	330	1	0	0	0	0	1	0	0	0	9727	1290	45	2	441	2	MMP2	16	55517971	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	935	55517971	34836782	131	61275											
HSF4	3299	broad.mit.edu	37	chr16	67202771	67202771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagcggggacaggagcccaGagagtctgctgcctccgatg	10	5	15	11	2	1	1	0	0	1	1	2	5	2	3	3	3	4	1	3	3	1	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:67202771G>C	ENST00000264009.8	+	12	2085	c.1120G>C	c.(1120-1122)Gag>Cag	p.E374Q	HSF4_ENST00000421453.1_Missense_Mutation_p.E344Q|HSF4_ENST00000584272.1_Missense_Mutation_p.E344Q|HSF4_ENST00000521374.1_Missense_Mutation_p.E374Q	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	374	Hydrophobic repeat HR-C.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGGAGCCCAGAGAGTCTGCT	0.597													9	56					0	0	0	0	C	67202771	G	C	67202771	3	2	330	1	0	0	0	0	1	0	0	0	7448	943	33	2	1172	2	HSF4	16	67202771	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	11684800	67202771	23151982	132	61276											
DLG4	1742	broad.mit.edu	37	chr17	7111543	7111543	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagggggcgtgtcttcatCttggtagcggtatttctggg	5	13	16	7	2	4	1	1	0	3	1	4	1	4	1	0	5	1	2	0	5	2	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:7111543C>G	ENST00000399510.2	-	4	1027	c.175G>C	c.(175-177)Gat>Cat	p.D59H	DLG4_ENST00000485100.1_Missense_Mutation_p.D16H|DLG4_ENST00000399506.2_Missense_Mutation_p.D16H|DLG4_ENST00000302955.6_Missense_Mutation_p.D16H	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	16					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GTGTCTTCATCTTGGTAGCGG	0.687													20	129					0	0	0	0	G	7111543	C	G	7111543	3	3	330	1	0	0	0	0	1	0	0	0	4594	913	32	2	2204	2	DLG4	17	7111543	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08		7111543	74083667	133	61277											
ZBTB4	57659	broad.mit.edu	37	chr17	7365712	7365712	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtatacatagctgcccccGcttgccactactgggggctc	6	9	12	14	1	0	0	0	0	0	0	1	0	0	0	3	3	5	4	3	3	4	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:7365712G>A	ENST00000311403.4	-	4	2928	c.2589C>T	c.(2587-2589)agC>agT	p.S863S	ZBTB4_ENST00000380599.4_Silent_p.S863S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	863					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGCTGCCCCCGCTTGCCACTA	0.622													7	47					0	0	0	0	A	7365712	G	A	7365712	2	1	330	1	0	0	0	0	0	0	0	1	17636	1078	38	1		1	ZBTB4	17	7365712	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	254169	7365712	73829498	134	61278											
TP53	7157	broad.mit.edu	37	chr17	7577090	7577090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagattctcttcctctgtgCgccggtctctcccaggacag	5	11	11	14	2	3	1	0	0	3	1	7	3	5	2	3	3	1	0	3	3	0	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:7577090C>T	ENST00000420246.2	-	8	980	c.848G>A	c.(847-849)cGc>cAc	p.R283H	TP53_ENST00000359597.4_Missense_Mutation_p.R283H|TP53_ENST00000269305.4_Missense_Mutation_p.R283H|TP53_ENST00000455263.2_Missense_Mutation_p.R283H|TP53_ENST00000445888.2_Missense_Mutation_p.R283H|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCTCTGTGCGCCGGTCTCT	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	44					0	0	0	0	T	7577090	C	T	7577090	3	4	330	1	0	0	0	0	1	0	0	0	16476	768	27	1	438	1	TP53	17	7577090	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	211378	7577090	73618120	135	61279											
DNAH2	146754	broad.mit.edu	37	chr17	7699957	7699957	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcattacctcttcaaccttcGagacatctccaaggtgactc	10	11	6	14	1	3	2	1	1	2	1	6	3	3	2	3	1	2	1	3	1	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:7699957G>C	ENST00000572933.1	+	50	9310	c.7850G>C	c.(7849-7851)cGa>cCa	p.R2617P	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2617P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2617	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCAACCTTCGAGACATCTCC	0.562													7	60					0	0	0	0	C	7699957	G	C	7699957	3	2	330	1	0	0	0	0	1	0	0	0	4639	1058	37	3	8044	3	DNAH2	17	7699957	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	122867	7699957	73495253	136	61280											
MYH10	4628	broad.mit.edu	37	chr17	8413267	8413267	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctagctgttcttccaggtCcttgtgaagaacacacagtc	9	12	9	11	0	2	2	0	1	2	1	5	2	4	2	2	1	2	2	2	1	3	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:8413267C>T	ENST00000360416.3	-	25	3091	c.2952_splice	c.e25-1	p.D985_splice	MYH10_ENST00000379980.4_Splice_Site_p.D970_splice|MYH10_ENST00000269243.4_Splice_Site_p.D954_splice|MYH10_ENST00000396239.1_Splice_Site_p.D975_splice	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	954					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTTCCAGGTCCTTGTGAAGA	0.458													7	54					0	0	0	0	T	8413267	C	T	8413267	5	4	330	1	0	0	0	0	0	0	1	0	10100	869	30	2	3146	2	MYH10	17	8413267	Splice_Site	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	713310	8413267	72781943	137	61281											
HNF1B	6928	broad.mit.edu	37	chr17	36070626	36070626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccatggtgactgattgttGaggaggaagtgatctcattg	9	13	14	5	0	1	4	1	4	1	0	2	6	1	6	1	3	1	1	1	3	1	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:36070626G>A	ENST00000225893.4	-	5	1452	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L	HNF1B_ENST00000561193.1_Missense_Mutation_p.S338L|HNF1B_ENST00000427275.2_Missense_Mutation_p.S338L|HNF1B_ENST00000560016.1_Missense_Mutation_p.S364L	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	364					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			ACTGATTGTTGAGGAGGAAGT	0.547													9	34					0	0	0	0	A	36070626	G	A	36070626	3	1	330	1	0	0	0	0	1	0	0	0	7302	1294	45	2	602	2	HNF1B	17	36070626	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	27657359	36070626	45124584	138	61282											
SLC35B1	10237	broad.mit.edu	37	chr17	47785214	47785214	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atgagacgcccagaggagccGactggagacccgctcacaac	12	3	12	14	3	1	3	1	1	0	3	1	7	1	4	3	2	2	1	3	2	1	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:47785214G>C	ENST00000415270.2	-	1	99	c.93C>G	c.(91-93)gtC>gtG	p.V31V	SLC35B1_ENST00000240333.6_5'UTR	NM_005827.1	NP_005818.1	P78383	S35B1_HUMAN	solute carrier family 35, member B1	0						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						CAGAGGAGCCGACTGGAGACC	0.677											OREG0024545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	15					0	0	0	0	C	47785214	G	C	47785214	2	2	330	1	0	0	0	0	0	0	0	1	14663	1073	37	3		3	SLC35B1	17	47785214	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	11714588	47785214	33409996	139	61283											
RSAD1	55316	broad.mit.edu	37	chr17	48559617	48559617	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtggcttgggcagctgcagGaactgctgcaccactgtgat	7	9	14	11	1	0	1	0	1	0	0	0	2	0	2	1	3	5	6	1	3	1	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:48559617G>T	ENST00000258955.2	+	4	725	c.640G>T	c.(640-642)Gaa>Taa	p.E214*		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	214					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAGCTGCAGGAACTGCTGCA	0.687											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	105					8.60227e-14	9.69864e-14	1	0	T	48559617	G	T	48559617	4	4	330	1	0	0	0	0	0	1	0	0	13779	1175	41	2	654	2	RSAD1	17	48559617	Nonsense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	774403	48559617	32635593	140	61284											
STXBP4	252983	broad.mit.edu	37	chr17	53084944	53084944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctgttcgctttaaggcaGagaaactggaaatggtaaaa	14	10	10	7	1	1	1	0	0	1	1	2	3	1	2	1	3	1	4	1	3	5	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:53084944G>C	ENST00000376352.2	+	8	859	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	STXBP4_ENST00000398391.2_Missense_Mutation_p.E143Q|STXBP4_ENST00000299341.4_Missense_Mutation_p.E143Q|STXBP4_ENST00000434978.2_Missense_Mutation_p.E218Q|STXBP4_ENST00000405898.1_Missense_Mutation_p.E218Q	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	218						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CTTTAAGGCAGAGAAACTGGA	0.378													34	145					0	0	0	0	C	53084944	G	C	53084944	3	2	330	1	0	0	0	0	1	0	0	0	15445	943	33	2	674	2	STXBP4	17	53084944	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	4525327	53084944	28110266	141	61285											
SKA2	348235	broad.mit.edu	37	chr17	57232366	57232366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctccctttggtgcaggagGagggaactcgactctggtcc	6	9	15	11	1	1	0	0	0	1	0	4	4	3	3	2	6	2	2	2	6	1	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:57232366G>A	ENST00000580541.1	-	1	179	c.79C>T	c.(79-81)Cct>Tct	p.P27S	SKA2_ENST00000578105.1_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000437036.2_Missense_Mutation_p.P27S|SKA2_ENST00000583380.1_Intron|SKA2_ENST00000330137.7_Intron|SKA2_ENST00000581068.1_Intron			Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	0					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			lung(4)	4						GGTGCAGGAGGAGGGAACTCG	0.607													14	71					0	0	0	0	A	57232366	G	A	57232366	3	1	330	1	0	0	0	0	1	0	0	0	14441	1174	41	2	397	2	SKA2	17	57232366	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	4147422	57232366	23962844	142	61286											
ERN1	2081	broad.mit.edu	37	chr17	62121349	62121349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagaggggccgccctcgctCagagggcgtctggagtcact	7	6	15	13	3	3	2	2	0	1	2	4	3	3	3	2	4	0	1	2	4	0	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:62121349C>T	ENST00000433197.2	-	22	3028	c.2933G>A	c.(2932-2934)tGa>tAa	p.*978*		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	0					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CGCCCTCGCTCAGAGGGCGTC	0.647													12	58					0	0	0	0	T	62121349	C	T	62121349	2	4	330	1	0	0	0	0	0	0	0	1	5275	837	29	2		2	ERN1	17	62121349	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	4888983	62121349	19073861	143	61287											
ARHGDIA	396	broad.mit.edu	37	chr17	79827209	79827209	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcagcctgtagcttacccgGaaagagatttttatccggta	11	11	10	9	2	0	1	0	0	0	1	1	3	1	2	3	2	4	4	3	2	5	6			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:79827209G>A	ENST00000269321.7	-	4	483	c.348C>T	c.(346-348)ttC>ttT	p.F116F	ARHGDIA_ENST00000541078.2_Silent_p.F116F|ARHGDIA_ENST00000584461.1_Silent_p.F116F|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000400721.4_Silent_p.F116F|ARHGDIA_ENST00000580685.1_Silent_p.F116F	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	116					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGCTTACCCGGAAAGAGATTT	0.602													28	107					0	0	0	0	A	79827209	G	A	79827209	2	1	330	1	0	0	0	0	0	0	0	1	892	1165	41	2		2	ARHGDIA	17	79827209	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	17705860	79827209	1368001	144	61288											
CEP192	55125	broad.mit.edu	37	chr18	13056587	13056587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccctctgtaacccatattCtaataccttaaatcagaacc	13	13	2	13	0	3	1	1	0	2	1	4	1	4	1	4	0	3	1	4	0	7	7			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr18:13056587C>T	ENST00000506447.1	+	19	4078	c.3998C>T	c.(3997-3999)tCt>tTt	p.S1333F	CEP192_ENST00000430049.2_Missense_Mutation_p.S858F|CEP192_ENST00000325971.8_Missense_Mutation_p.S737F	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	928										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AACCCATATTCTAATACCTTA	0.463													20	101					0	0	0	0	T	13056587	C	T	13056587	3	4	330	1	0	0	0	0	1	0	0	0	3280	913	32	2	4068	2	CEP192	18	13056587	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08		13056587	65020661	145	61289											
DAZAP1	26528	broad.mit.edu	37	chr19	1428915	1428915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaggtgccagccagtggggGagccgggttgtgcccaacgc	6	5	17	13	2	0	0	0	0	0	0	0	1	0	1	5	4	5	1	5	4	1	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:1428915G>A	ENST00000336761.6	+	8	826	c.621G>A	c.(619-621)ggG>ggA	p.G207G	DAZAP1_ENST00000233078.4_Silent_p.G207G	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	207					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		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)		GCCAGTGGGGGAGCCGGGTTG	0.637													12	49					0	0	0	0	A	1428915	G	A	1428915	2	1	330	1	0	0	0	0	0	0	0	1	4277	1161	41	2		2	DAZAP1	19	1428915	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08		1428915	57700068	146	61290											
DOHH	83475	broad.mit.edu	37	chr19	3494083	3494083	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccagaacttccgggtccccGatggcccccagggcctcccc	5	6	10	20	2	0	1	0	0	0	1	4	2	4	1	9	3	1	0	9	3	1	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:3494083G>C	ENST00000427575.1	-	3	745	c.294C>G	c.(292-294)atC>atG	p.I98M	DOHH_ENST00000250937.3_Missense_Mutation_p.I98M	NM_001145165.1	NP_001138637.1	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	98					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTCCCCGATGGCCCCCA	0.632													4	20					0	0	0	0	C	3494083	G	C	3494083	3	2	330	1	0	0	0	0	1	0	0	0	4731	1048	37	3	626	3	DOHH	19	3494083	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	2065168	3494083	55634900	147	61291											
SH2D3A	10045	broad.mit.edu	37	chr19	6755320	6755320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggcagatatgggcatggtgGaggcttctagaggtcataca	11	9	15	6	0	2	2	1	0	1	2	2	3	2	3	0	6	1	3	0	6	3	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:6755320G>A	ENST00000245908.6	-	5	772	c.503C>T	c.(502-504)tCc>tTc	p.S168F	SH2D3A_ENST00000437152.3_Missense_Mutation_p.S46F|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	168					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGGCATGGTGGAGGCTTCTAG	0.592													11	108					0	0	0	0	A	6755320	G	A	6755320	3	1	330	1	0	0	0	0	1	0	0	0	14320	1174	41	2	1251	2	SH2D3A	19	6755320	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	3261237	6755320	52373663	148	61292											
XAB2	56949	broad.mit.edu	37	chr19	7690804	7690804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggatgtagtagtcggcgaGagaacaccagagcttgccca	11	6	14	10	3	0	2	0	0	0	2	1	5	0	3	2	2	3	3	2	2	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:7690804G>A	ENST00000358368.4	-	6	821	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	XAB2_ENST00000534844.1_Missense_Mutation_p.L259F	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	262					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TAGTCGGCGAGAGAACACCAG	0.642								Direct reversal of damage;Nucleotide excision repair (NER)					6	47					0	0	0	0	A	7690804	G	A	7690804	3	1	330	1	0	0	0	0	1	0	0	0	17514	942	33	2	1839	2	XAB2	19	7690804	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	935484	7690804	51438179	149	61293											
MUC16	94025	broad.mit.edu	37	chr19	9070920	9070920	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcacctgtgggcacataaGaaaaggcagtatttgtctct	12	11	10	8	0	1	1	0	0	1	1	2	1	1	1	1	2	1	4	1	2	5	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:9070920G>C	ENST00000397910.4	-	3	16729	c.16526C>G	c.(16525-16527)tCt>tGt	p.S5509C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5511	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						GGGCACATAAGAAAAGGCAGT	0.502													5	25					0	0	0	0	C	9070920	G	C	9070920	3	2	330	1	0	0	0	0	1	0	0	0	10043	942	33	2	27325	2	MUC16	19	9070920	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	1380116	9070920	50058063	150	61294											
CYP4F2	8529	broad.mit.edu	37	chr19	15996792	15996792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcacctcctgccggcagcGctcctggtattctgggtgct	3	12	12	14	2	1	0	0	0	1	0	3	0	3	0	4	3	4	5	4	3	1	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:15996792G>A	ENST00000221700.5	-	9	1152	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	CYP4F2_ENST00000592328.1_Missense_Mutation_p.R353C|CYP4F2_ENST00000011989.7_Silent_p.S181S	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	353					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGCCGGCAGCGCTCCTGGTAT	0.582													17	60					0	0	0	0	A	15996792	G	A	15996792	3	1	330	1	0	0	0	0	1	0	0	0	4220	1087	38	1	525	1	CYP4F2	19	15996792	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	6925872	15996792	43132191	151	61295											
SIN3B	23309	broad.mit.edu	37	chr19	16963895	16963895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagaaaaaaatgaaacttCgtggtaccaaagacctgtcc	17	7	7	10	1	0	3	0	1	0	2	2	3	1	3	3	1	2	1	3	1	6	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:16963895C>A	ENST00000379803.1	+	7	879	c.865C>A	c.(865-867)Cgt>Agt	p.R289S	SIN3B_ENST00000248054.5_Missense_Mutation_p.R289S|SIN3B_ENST00000596802.1_Missense_Mutation_p.R289S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	289	Interaction with NCOR1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	p.R289C(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AATGAAACTTCGTGGTACCAA	0.512													19	43					1.56452e-12	1.75532e-12	1	0	A	16963895	C	A	16963895	3	1	330	1	0	0	0	0	1	0	0	0	14414	884	31	3	891	3	SIN3B	19	16963895	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	967103	16963895	42165088	152	61296											
ATP4A	495	broad.mit.edu	37	chr19	36051372	36051372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagactcccctgtcagcgagGagttgtccaccttgcagccc	7	8	10	16	1	1	1	1	0	0	1	3	3	3	2	5	1	3	2	5	1	0	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:36051372G>T	ENST00000262623.3	-	6	708	c.680C>A	c.(679-681)tCc>tAc	p.S227Y		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	227					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.S227F(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGTCAGCGAGGAGTTGTCCAC	0.647													15	51					2.61681e-11	2.92169e-11	1	0	T	36051372	G	T	36051372	3	4	330	1	0	0	0	0	1	0	0	0	1149	1174	41	2	2495	2	ATP4A	19	36051372	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	19087477	36051372	23077611	153	61297											
BCKDHA	593	broad.mit.edu	37	chr19	41925110	41925110	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatggcaacatcagtgacttGggcaaggggcgccagatgcc	10	7	14	10	1	1	2	1	1	0	1	1	2	1	2	2	4	2	2	2	4	3	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:41925110G>C	ENST00000269980.2	+	5	923	c.555G>C	c.(553-555)ttG>ttC	p.L185F	BCKDHA_ENST00000535632.1_3'UTR|BCKDHA_ENST00000457836.2_Missense_Mutation_p.L163F|BCKDHA_ENST00000595085.1_Missense_Mutation_p.L219F|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.L219F	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	185					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TCAGTGACTTGGGCAAGGGGC	0.582													9	49					0	0	0	0	C	41925110	G	C	41925110	3	2	330	1	0	0	0	0	1	0	0	0	1363	1339	47	4	573	4	BCKDHA	19	41925110	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	5873738	41925110	17203873	154	61298											
ZNF296	162979	broad.mit.edu	37	chr19	45575432	45575432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgagggggctctggggCggcacctgccggtgggtctt	3	8	19	11	2	2	1	0	1	2	0	2	1	2	1	3	7	1	2	3	7	0	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:45575432C>T	ENST00000303809.2	-	3	1069	c.855G>A	c.(853-855)ccG>ccA	p.P285P		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	285					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGCTCTGGGGCGGCACCTGCC	0.687													18	81					0	0	0	0	T	45575432	C	T	45575432	2	4	330	1	0	0	0	0	0	0	0	1	17923	755	27	1		1	ZNF296	19	45575432	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	3650322	45575432	13553551	155	61299											
GRIN2D	2906	broad.mit.edu	37	chr19	48925189	48925189	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgtagaggaagcgctcactCagctcaaggcagggtcagcg	10	5	15	11	3	4	1	4	0	0	1	4	2	4	2	0	3	3	4	0	3	3	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:48925189C>G	ENST00000263269.3	+	10	2327	c.2239C>G	c.(2239-2241)Cag>Gag	p.Q747E		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	747						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	AGCGCTCACTCAGCTCAAGGC	0.627													17	66					0	0	0	0	G	48925189	C	G	48925189	3	3	330	1	0	0	0	0	1	0	0	0	6832	827	29	2	2273	2	GRIN2D	19	48925189	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	3349757	48925189	10203794	156	61300											
ZNF304	57343	broad.mit.edu	37	chr19	57867885	57867885	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcaacaccaaggagaCtatgatggacagatgctttt	13	9	10	9	0	1	3	1	1	0	2	1	5	1	4	1	3	2	2	1	3	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:57867885C>G	ENST00000391705.3	+	4	932	c.648C>G	c.(646-648)gaC>gaG	p.D216E	ZNF304_ENST00000282286.5_Missense_Mutation_p.D216E|ZNF304_ENST00000598744.1_Missense_Mutation_p.D174E|ZNF304_ENST00000443917.2_Missense_Mutation_p.D263E	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	216					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)		ACCAAGGAGACTATGATGGAC	0.502													6	57					0	0	0	0	G	57867885	C	G	57867885	3	3	330	1	0	0	0	0	1	0	0	0	17928	564	20	4	658	4	ZNF304	19	57867885	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	8942696	57867885	1261098	157	61301											
TMEM189	387521	broad.mit.edu	37	chr20	48744557	48744557	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggtgagacgtggtggaTgcgatggtgtttacgtggca	6	11	20	4	3	0	1	0	1	0	1	0	4	0	2	0	6	2	2	0	6	1	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr20:48744557T>A	ENST00000557021.1	-	5	806	c.646A>T	c.(646-648)Atc>Ttc	p.I216F	TMEM189_ENST00000371650.5_Missense_Mutation_p.I213F|TMEM189_ENST00000371652.4_Missense_Mutation_p.I216F|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.I216F|TMEM189_ENST00000371656.2_Missense_Mutation_p.I141F	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			ACGTGGTGGATGCGATGGTGT	0.607													14	24					0	0	0	0	A	48744557	T	A	48744557	3	1	330	1	0	0	0	0	1	0	0	0	16205	1464	51	5	174	5	TMEM189	20	48744557	Missense_Mutation	SNP	T	TCGA-CV-A45P-01A-11D-A24D-08		48744557	14280963	158	61302											
ZGPAT	84619	broad.mit.edu	37	chr20	62339987	62339987	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctaccgtgcgcagctgcagCaggtggagctggccttgggc	5	7	16	13	2	0	0	0	0	0	0	0	1	0	1	3	4	6	5	3	4	1	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr20:62339987C>T	ENST00000328969.5	+	2	182	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	ZGPAT_ENST00000448100.1_Nonsense_Mutation_p.Q19*|ZGPAT_ENST00000357119.4_Nonsense_Mutation_p.Q19*|ZGPAT_ENST00000369967.3_Nonsense_Mutation_p.Q19*|ZGPAT_ENST00000355969.6_Nonsense_Mutation_p.Q19*|ZGPAT_ENST00000490623.1_3'UTR	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	19					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCAGCTGCAGCAGGTGGAGCT	0.662													8	58					0	0	0	0	T	62339987	C	T	62339987	4	4	330	1	0	0	0	0	0	1	0	0	17769	711	25	4	57	4	ZGPAT	20	62339987	Nonsense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	13595430	62339987	685533	159	61303											
USP16	10600	broad.mit.edu	37	chr21	30426392	30426392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttctcatgacagattttGaaatggaatcaaaagggcag	15	12	9	5	0	2	3	2	2	1	1	3	4	2	4	0	2	0	1	0	2	4	4			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr21:30426392G>C	ENST00000334352.4	+	19	2587	c.2356G>C	c.(2356-2358)Gaa>Caa	p.E786Q	USP16_ENST00000399975.3_Missense_Mutation_p.E785Q|USP16_ENST00000399976.2_Missense_Mutation_p.E786Q|USP16_ENST00000535828.1_Missense_Mutation_p.E415Q	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	786					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						GACAGATTTTGAAATGGAATC	0.373													8	36					0	0	0	0	C	30426392	G	C	30426392	3	2	330	1	0	0	0	0	1	0	0	0	17143	1291	45	2	2422	2	USP16	21	30426392	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08		30426392	17703503	160	61304											
CRYZL1	9946	broad.mit.edu	37	chr21	34968082	34968082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacaaattccaaacttcatCattcaggaaagctaacgttg	15	11	6	9	1	3	1	3	1	0	0	4	2	4	2	1	1	3	2	1	1	4	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr21:34968082C>T	ENST00000361534.2	-	12	1070	c.931G>A	c.(931-933)Gat>Aat	p.D311N	CRYZL1_ENST00000480893.1_5'UTR|CRYZL1_ENST00000381540.3_Missense_Mutation_p.D287N|CRYZL1_ENST00000381554.3_Missense_Mutation_p.D287N|CRYZL1_ENST00000290244.5_Missense_Mutation_p.D272N|CRYZL1_ENST00000445393.1_Intron|AP000304.12_ENST00000429238.1_Intron			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	287					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						CAAACTTCATCATTCAGGAAA	0.368													9	26					0	0	0	0	T	34968082	C	T	34968082	3	4	330	1	0	0	0	0	1	0	0	0	3953	826	29	2	202	2	CRYZL1	21	34968082	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	4541690	34968082	13161813	161	61305											
TTC3	7267	broad.mit.edu	37	chr21	38560888	38560888	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctgaagaagctggggctGattagccggtattgcagttt	8	14	13	6	1	1	3	0	2	1	1	1	3	1	3	1	3	3	5	1	3	4	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr21:38560888G>A	ENST00000399017.2	+	39	7763	c.5016G>A	c.(5014-5016)ctG>ctA	p.L1672L	TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000354749.2_Silent_p.L1672L|TTC3_ENST00000355666.1_Silent_p.L1672L|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1672					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGCTGGGGCTGATTAGCCGGT	0.423													4	25					0	0	0	0	A	38560888	G	A	38560888	2	1	330	1	0	0	0	0	0	0	0	1	16793	1277	45	2		2	TTC3	21	38560888	Silent	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	3592806	38560888	9569007	162	61306											
MCM5	4174	broad.mit.edu	37	chr22	35802584	35802584	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtgaagatccctggcatCatcatcgcggcctctgcggt	6	10	12	13	3	3	2	2	1	1	1	5	2	4	2	2	4	1	1	2	4	1	0			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr22:35802584C>T	ENST00000216122.4	+	5	616	c.462C>T	c.(460-462)atC>atT	p.I154I	MCM5_ENST00000382011.5_Silent_p.I111I|CTA-286B10.7_ENST00000417343.1_RNA	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	154					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCCCTGGCATCATCATCGCGG	0.592													7	40					0	0	0	0	T	35802584	C	T	35802584	2	4	330	1	0	0	0	0	0	0	0	1	9459	816	29	2		2	MCM5	22	35802584	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08		35802584	15501982	163	61307											
FAM19A5	25817	broad.mit.edu	37	chr22	49042509	49042509	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcccgctgtgcgtgtagAaaggggcagatcgccggcac	8	5	15	13	5	0	2	0	0	0	2	1	2	0	2	3	3	1	4	3	3	2	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr22:49042509A>G	ENST00000358295.5	+	2	367	c.192A>G	c.(190-192)agA>agG	p.R64R	FAM19A5_ENST00000402357.1_Silent_p.R71R|FAM19A5_ENST00000473898.1_Intron	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	71						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GTGCGTGTAGAAAGGGGCAGA	0.711													3	34					0	0	0	0	G	49042509	A	G	49042509	2	3	330	1	0	0	0	0	0	0	0	1	5578	243	9	5		5	FAM19A5	22	49042509	Silent	SNP	A	TCGA-CV-A45P-01A-11D-A24D-08	13239925	49042509	2262057	164	61308											
GYG2	8908	broad.mit.edu	37	chrX	2793874	2793874	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagcttgtcctgaaactgaGactcctgccgtgataacgtg	10	11	10	10	2	0	3	0	3	0	1	2	4	2	3	3	0	4	1	3	0	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:2793874G>C	ENST00000381163.3	+	10	1437	c.1155G>C	c.(1153-1155)gaG>gaC	p.E385D	GYG2_ENST00000542787.1_Intron|GYG2_ENST00000338623.5_Missense_Mutation_p.E385D|GYG2_ENST00000398806.3_Missense_Mutation_p.E354D|GYG2_ENST00000381161.1_Intron	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	385					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGAAACTGAGACTCCTGCCG	0.433													5	17					0	0	0	0	C	2793874	G	C	2793874	3	2	330	1	0	0	0	0	1	0	0	0	6956	933	33	2	1189	2	GYG2	23	2793874	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08		2793874	152476686	165	61309											
NLGN4X	57502	broad.mit.edu	37	chrX	5811433	5811433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcttggcgggagatcgccGggtgccatagggaaatgatg	9	9	16	7	3	1	2	0	1	1	1	2	4	1	3	2	4	1	0	2	4	3	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:5811433G>A	ENST00000381095.3	-	6	2503	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	NLGN4X_ENST00000381092.1_Missense_Mutation_p.R626W|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R626W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R646W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R626W	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	626					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGAGATCGCCGGGTGCCATAG	0.498													27	100					0	0	0	0	A	5811433	G	A	5811433	3	1	330	1	0	0	0	0	1	0	0	0	10534	1115	39	1	578	1	NLGN4X	23	5811433	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	3017559	5811433	149459127	166	61310											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722218	64722218	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggaccatggctactattCaatgttaggtgacttctcca	9	12	11	9	0	2	1	1	1	1	0	3	2	2	2	2	4	1	2	2	4	4	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:64722218C>G	ENST00000338957.4	+	5	1707	c.1640C>G	c.(1639-1641)tCa>tGa	p.S547*	ZC3H12B_ENST00000423889.3_Nonsense_Mutation_p.S536*	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	536							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCTACTATTCAATGTTAGGT	0.478													10	56					0	0	0	0	G	64722218	C	G	64722218	4	3	330	1	0	0	0	0	0	1	0	0	17657	838	29	2	1658	2	ZC3H12B	23	64722218	Nonsense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	58910785	64722218	90548342	167	61311											
IGBP1	3476	broad.mit.edu	37	chrX	69354494	69354494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgtctagatcatttgcagCgggctcgagaacactttata	11	11	10	9	3	2	2	1	0	1	2	3	3	2	2	0	1	4	2	0	1	4	5			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:69354494C>T	ENST00000342206.6	+	2	809	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	IGBP1_ENST00000356413.4_Missense_Mutation_p.R104W			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	104					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						TCATTTGCAGCGGGCTCGAGA	0.473													11	41					0	0	0	0	T	69354494	C	T	69354494	3	4	330	1	0	0	0	0	1	0	0	0	7620	759	27	1	316	1	IGBP1	23	69354494	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	4632276	69354494	85916066	168	61312											
IL2RG	3561	broad.mit.edu	37	chrX	70331333	70331333	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtgttcagccccactccCagcaggggcagctgcaggaa	8	6	13	14	1	1	0	1	0	0	0	3	1	2	1	3	3	4	5	3	3	1	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:70331333C>A	ENST00000374202.2	-	1	148	c.57G>T	c.(55-57)ctG>ctT	p.L19L		NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	19					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GCCCCACTCCCAGCAGGGGCA	0.557									Severe Combined Immunodeficiency, X-linked				4	45					1	1	1	0	A	70331333	C	A	70331333	2	1	330	1	0	0	0	0	0	0	0	1	7741	581	21	4		4	IL2RG	23	70331333	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	976839	70331333	84939227	169	61313											
ARMCX5	64860	broad.mit.edu	37	chrX	101857799	101857799	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaggggagcaatccttgcctCcagaaggaaactggaccctg	11	6	13	11	0	0	1	0	0	0	1	2	5	2	4	4	4	3	1	4	4	3	1			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:101857799C>G	ENST00000604957.1	+	1	3352	c.730C>G	c.(730-732)Cca>Gca	p.P244A	ARMCX5_ENST00000541409.1_Missense_Mutation_p.P244A|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.P244A|ARMCX5_ENST00000372742.1_Missense_Mutation_p.P244A|ARMCX5_ENST00000536530.1_Missense_Mutation_p.P244A|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.P244A	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	244							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						ATCCTTGCCTCCAGAAGGAAA	0.468													11	64					0	0	0	0	G	101857799	C	G	101857799	3	3	330	1	0	0	0	0	1	0	0	0	966	855	30	2	732	2	ARMCX5	23	101857799	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	31526466	101857799	53412761	170	61314											
COL4A6	1288	broad.mit.edu	37	chrX	107408111	107408111	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgagcagccgtacctttCagtcctagctctccagggag	8	8	11	14	2	2	0	1	0	1	0	4	2	3	1	5	1	5	3	5	1	2	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:107408111C>A	ENST00000394872.2	-	39	4200	c.3969G>T	c.(3967-3969)ctG>ctT	p.L1323L	COL4A6_ENST00000372216.4_Silent_p.L1323L|COL4A6_ENST00000545689.1_Silent_p.L1298L|COL4A6_ENST00000538570.1_Silent_p.L1298L|COL4A6_ENST00000334504.7_Silent_p.L1322L			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1323	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCGTACCTTTCAGTCCTAGCT	0.597									Alport syndrome with Diffuse Leiomyomatosis				6	25					0.00116845	0.00119974	1	0	A	107408111	C	A	107408111	2	1	330	1	0	0	0	0	0	0	0	1	3725	813	29	2		2	COL4A6	23	107408111	Silent	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	5550312	107408111	47862449	171	61315											
UTP14A	10813	broad.mit.edu	37	chrX	129059976	129059976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcagagatttcttgaaaGagaagagggaagctgtggag	14	9	14	4	0	3	4	2	1	1	3	3	8	3	6	0	2	1	1	0	2	3	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:129059976G>A	ENST00000394422.3	+	13	1859	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	UTP14A_ENST00000425117.2_Missense_Mutation_p.E559K|UTP14A_ENST00000371051.5_Missense_Mutation_p.E557K|UTP14A_ENST00000371042.3_Missense_Mutation_p.E443K|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	611					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTTCTTGAAAGAGAAGAGGGA	0.522											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	27					0	0	0	0	A	129059976	G	A	129059976	3	1	330	1	0	0	0	0	1	0	0	0	17191	943	33	2	1881	2	UTP14A	23	129059976	Missense_Mutation	SNP	G	TCGA-CV-A45P-01A-11D-A24D-08	21651865	129059976	26210584	172	61316											
GABRE	2564	broad.mit.edu	37	chrX	151123917	151123917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagcaaactccaacagagCgcagaagcagaagacgaagc	18	1	10	12	2	0	4	0	0	0	4	1	5	1	4	1	0	6	3	1	0	5	0	rs61740527		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:151123917C>A	ENST00000370325.1	-	8	1113	c.1060G>T	c.(1060-1062)Gct>Tct	p.A354S	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.A354S			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	354					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAACAGAGCGCAGAAGCAG	0.498													8	43					1	1	1	0	A	151123917	C	A	151123917	3	1	330	1	0	0	0	0	1	0	0	0	6218	768	27	3	468	3	GABRE	23	151123917	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	22063941	151123917	4146643	173	61317											
ZNF185	7739	broad.mit.edu	37	chrX	152085679	152085679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcttctcttcggcaggcctCcgagcacaagggctcccact	6	10	9	16	2	2	0	0	0	2	0	6	1	4	0	3	3	1	3	3	3	1	3			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:152085679C>T	ENST00000535861.1	+	4	277	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S	ZNF185_ENST00000539731.1_Missense_Mutation_p.P77S|ZNF185_ENST00000318504.7_Missense_Mutation_p.P77S|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000449285.2_Missense_Mutation_p.P77S|ZNF185_ENST00000370268.4_Missense_Mutation_p.P77S	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	77						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CGGCAGGCCTCCGAGCACAAG	0.572													12	76					0	0	0	0	T	152085679	C	T	152085679	3	4	330	1	0	0	0	0	1	0	0	0	17847	855	30	2	243	2	ZNF185	23	152085679	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	961762	152085679	3184881	174	61318											
FLNA	2316	broad.mit.edu	37	chrX	153590634	153590634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgactgaggccagggccctCggccttcaccttactggcgt	5	8	13	15	3	1	1	1	1	0	0	2	2	1	1	4	4	1	0	4	4	1	2			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:153590634C>T	ENST00000422373.1	-	18	2880	c.2632G>A	c.(2632-2634)Gag>Aag	p.E878K	FLNA_ENST00000369850.3_Missense_Mutation_p.E878K|FLNA_ENST00000360319.4_Missense_Mutation_p.E878K|FLNA_ENST00000344736.4_Missense_Mutation_p.E878K	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	878					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGGGCCCTCGGCCTTCACC	0.652													13	89					0	0	0	0	T	153590634	C	T	153590634	3	4	330	1	0	0	0	0	1	0	0	0	5978	893	31	1	5435	1	FLNA	23	153590634	Missense_Mutation	SNP	C	TCGA-CV-A45P-01A-11D-A24D-08	1504955	153590634	1679926	175	61319											
PLA2G5	5322	broad.mit.edu	37	chr1	20417104	20417104	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacctctgtgcctgtgaccgGaagctcgtctactgcctcaa	8	10	9	14	2	3	1	1	1	2	0	4	2	3	2	4	1	5	1	4	1	4	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:20417104G>T	ENST00000375108.3	+	5	604	c.336G>T	c.(334-336)cgG>cgT	p.R112R	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	112					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CCTGTGACCGGAAGCTCGTCT	0.567													24	59					1.10513e-12	1.233e-12	1	0	T	20417104	G	T	20417104	2	4	331	1	0	0	0	0	0	0	0	1	12079	1161	41	2		2	PLA2G5	1	20417104	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08		20417104	228833517	1	61320											
MYOM3	127294	broad.mit.edu	37	chr1	24409086	24409086	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgcccttggactcacccaGagcctgcttgaccctgatgg	6	9	10	16	0	1	3	1	2	0	1	1	4	1	4	5	2	3	1	5	2	0	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:24409086G>A	ENST00000330966.7	-	17	2254	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.L697L|MYOM3_ENST00000329601.7_Silent_p.L697L|RP11-293P20.4_ENST00000429191.1_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	697										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GACTCACCCAGAGCCTGCTTG	0.642													12	23					0	0	0	0	A	24409086	G	A	24409086	2	1	331	1	0	0	0	0	0	0	0	1	10163	933	33	2		2	MYOM3	1	24409086	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	3991982	24409086	224841535	2	61321											
NIPAL3	57185	broad.mit.edu	37	chr1	24790551	24790551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcgtcttcttaatcaCgcgtaacaggaagaagccca	11	9	10	11	3	3	1	1	0	2	1	3	2	3	2	1	2	2	1	1	2	4	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:24790551C>T	ENST00000003912.3	+	12	1431	c.716C>T	c.(715-717)aCg>aTg	p.T239M	NIPAL3_ENST00000374399.4_Missense_Mutation_p.T321M|NIPAL3_ENST00000339255.2_Missense_Mutation_p.T321M			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	321						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TTCTTAATCACGCGTAACAGG	0.488													4	12					0	0	0	0	T	24790551	C	T	24790551	3	4	331	1	0	0	0	0	1	0	0	0	10496	536	19	1	1000	1	NIPAL3	1	24790551	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	381465	24790551	224460070	3	61322											
MAP3K6	9064	broad.mit.edu	37	chr1	27686843	27686843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagagcgatctcttcatGcaggggctgagagaacctga	11	8	14	8	1	2	5	1	3	1	2	3	7	2	5	1	2	3	2	1	2	2	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:27686843G>C	ENST00000493901.1	-	17	2310	c.2071C>G	c.(2071-2073)Cat>Gat	p.H691D	MAP3K6_ENST00000374040.3_Missense_Mutation_p.H683D|MAP3K6_ENST00000357582.2_Missense_Mutation_p.H691D	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	691	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATCTCTTCATGCAGGGGCTGA	0.617													6	32					0	0	0	0	C	27686843	G	C	27686843	3	2	331	1	0	0	0	0	1	0	0	0	9323	1319	46	4	1851	4	MAP3K6	1	27686843	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	2896292	27686843	221563778	4	61323											
SDC3	9672	broad.mit.edu	37	chr1	31349455	31349455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggggcagggtgctcctctCagggatgtcaggctcctggg	5	8	17	11	0	2	0	2	0	1	0	5	1	4	1	2	6	1	3	2	6	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:31349455C>T	ENST00000336798.7	-	1	2132	c.640G>A	c.(640-642)Gag>Aag	p.E214K	SDC3_ENST00000339394.6_Missense_Mutation_p.E272K			O75056	SDC3_HUMAN	syndecan 3	272	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCTCCTCTCAGGGATGTCA	0.682													10	19					0	0	0	0	T	31349455	C	T	31349455	3	4	331	1	0	0	0	0	1	0	0	0	14040	835	29	2	526	2	SDC3	1	31349455	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	3662612	31349455	217901166	5	61324											
MARCKSL1	65108	broad.mit.edu	37	chr1	32800238	32800238	+	Missense_Mutation	SNP	T	T	A																															tggctggtgtagggccactcTccggccccgagggagtggat																										TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:32800238T>A	ENST00000329421.7	-	2	893	c.548A>T	c.(547-549)gAg>gTg	p.E183V		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	183						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGGCCACTCTCCGGCCCCGA	0.617													17	42					0	0	0	0	A	32800238	T	A	32800238	3	1	331	1	0	0	0	0	1	0	0	0	9379	1551	54	5	43	5	MARCKSL1	1	32800238	Missense_Mutation	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	1450783	32800238	216450383	6	61325	736	2									
MARCKSL1	65108	broad.mit.edu	37	chr1	32800239	32800239	+	Missense_Mutation	SNP	C	C	G																															ggctggtgtagggccactctCcggccccgagggagtggatg																										TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:32800239C>G	ENST00000329421.7	-	2	892	c.547G>C	c.(547-549)Gag>Cag	p.E183Q		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	183						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGCCACTCTCCGGCCCCGAG	0.612													17	40					0	0	0	0	G	32800239	C	G	32800239	3	3	331	1	0	0	0	0	1	0	0	0	9379	864	30	2	44	2	MARCKSL1	1	32800239	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	1	32800239	216450382	7	61326	736	2									
ADC	113451	broad.mit.edu	37	chr1	33549576	33549576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaggtagctgccttcttcGtggctgacctgggtgccata	6	11	13	11	2	1	1	0	1	1	0	2	2	1	1	3	3	3	3	3	3	2	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:33549576G>A	ENST00000294517.6	+	5	714	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000358680.3_Missense_Mutation_p.V43M|ADC_ENST00000398167.1_Missense_Mutation_p.V43M|ADC_ENST00000373440.1_Missense_Mutation_p.V43M|ADC_ENST00000373441.1_Missense_Mutation_p.V43M|ADC_ENST00000373443.3_Missense_Mutation_p.V43M	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	43					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TGCCTTCTTCGTGGCTGACCT	0.547													17	30					0	0	0	0	A	33549576	G	A	33549576	3	1	331	1	0	0	0	0	1	0	0	0	287	1145	40	1	133	1	ADC	1	33549576	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	749337	33549576	215701045	8	61327											
ZMYM1	79830	broad.mit.edu	37	chr1	35563106	35563106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctccataccatgcatcactGaatacatttcatctgccagt	11	12	5	13	0	3	1	2	1	1	0	4	1	4	1	3	0	4	2	3	0	3	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:35563106G>A	ENST00000373330.1	+	5	532	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	ZMYM1_ENST00000359858.4_Missense_Mutation_p.E120K|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	120						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGCATCACTGAATACATTTC	0.398													12	47					0	0	0	0	A	35563106	G	A	35563106	3	1	331	1	0	0	0	0	1	0	0	0	17794	1291	45	2	368	2	ZMYM1	1	35563106	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	2013530	35563106	213687515	9	61328											
SLC5A9	200010	broad.mit.edu	37	chr1	48705107	48705107	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccggaggccagcagtgctGaaggacttccactacctgta	10	7	12	12	1	0	1	0	1	0	0	1	4	1	3	4	3	3	3	4	3	3	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:48705107G>A	ENST00000236495.5	+	13	1700	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	SLC5A9_ENST00000533824.1_Silent_p.L546L|SLC5A9_ENST00000438567.2_Silent_p.L525L	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	525						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CAGCAGTGCTGAAGGACTTCC	0.582													24	96					0	0	0	0	A	48705107	G	A	48705107	2	1	331	1	0	0	0	0	0	0	0	1	14760	1277	45	2		2	SLC5A9	1	48705107	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	13142001	48705107	200545514	10	61329											
LRP8	7804	broad.mit.edu	37	chr1	53736707	53736707	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgttcataccagcagcCttgcagttcttggtcagtag	7	12	13	9	0	3	0	2	0	1	0	3	0	3	0	2	3	4	5	2	3	2	6			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:53736707C>T	ENST00000306052.6	-	8	1346	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K	LRP8_ENST00000465675.1_Intron|LRP8_ENST00000354412.3_Silent_p.K286K|LRP8_ENST00000347547.2_Silent_p.K245K|LRP8_ENST00000371454.2_Silent_p.K415K	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	415	EGF-like 2; calcium-binding (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TACCAGCAGCCTTGCAGTTCT	0.542													16	52					0	0	0	0	T	53736707	C	T	53736707	2	4	331	1	0	0	0	0	0	0	0	1	9027	680	24	4		4	LRP8	1	53736707	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	5031600	53736707	195513914	11	61330											
WDR78	79819	broad.mit.edu	37	chr1	67292604	67292604	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgtcgtaaacaacagaagtAgctggataaaaactcaaaga	20	6	8	7	2	1	2	1	0	0	2	2	3	1	3	0	1	4	3	0	1	9	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:67292604A>T	ENST00000371026.3	-	15	2293	c.2238T>A	c.(2236-2238)gcT>gcA	p.A746A	WDR78_ENST00000431318.1_Silent_p.A459A	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	746										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CAACAGAAGTAGCTGGATAAA	0.398													18	39					0	0	0	0	T	67292604	A	T	67292604	2	4	331	1	0	0	0	0	0	0	0	1	17424	407	15	5		5	WDR78	1	67292604	Silent	SNP	A	TCGA-CV-A45Q-01A-11D-A24D-08	13555897	67292604	181958017	12	61331											
EPHX4	253152	broad.mit.edu	37	chr1	92515905	92515905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgacaccctgctcagctgttGaaatccagttattattactt	10	14	6	11	1	1	1	1	1	0	0	2	2	2	1	2	0	3	4	2	0	4	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:92515905G>A	ENST00000370383.4	+	5	734	c.636G>A	c.(634-636)ttG>ttA	p.L212L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	212						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						CTCAGCTGTTGAAATCCAGTT	0.318													4	25					0	0	0	0	A	92515905	G	A	92515905	2	1	331	1	0	0	0	0	0	0	0	1	5220	1281	45	2		2	EPHX4	1	92515905	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	25223301	92515905	156734716	13	61332											
DNTTIP2	30836	broad.mit.edu	37	chr1	94343367	94343367	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagcagtagttcgggcatCagatccagtactactttctg	9	13	9	10	1	3	1	2	0	1	1	5	1	4	1	1	1	3	5	1	1	3	6			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:94343367C>G	ENST00000436063.2	-	2	181	c.124G>C	c.(124-126)Gat>Cat	p.D42H	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GTTCGGGCATCAGATCCAGTA	0.453													7	11					0	0	0	0	G	94343367	C	G	94343367	3	3	331	1	0	0	0	0	1	0	0	0	4718	826	29	2	2170	2	DNTTIP2	1	94343367	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	1827462	94343367	154907254	14	61333											
PTBP2	58155	broad.mit.edu	37	chr1	97278423	97278423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcgttttaagaaacctGgatccaaaaattttcaaaac	16	12	5	8	1	1	1	1	0	0	1	3	2	2	2	2	1	3	2	2	1	6	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:97278423G>A	ENST00000236228.6	+	12	1409	c.1327G>A	c.(1327-1329)Gga>Aga	p.G443R	PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000394184.3_Missense_Mutation_p.G459R|PTBP2_ENST00000370198.1_Missense_Mutation_p.G448R|PTBP2_ENST00000370197.1_Missense_Mutation_p.G448R|PTBP2_ENST00000426398.2_Missense_Mutation_p.G443R	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	443							nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TAAGAAACCTGGATCCAAAAA	0.378													7	16					0	0	0	0	A	97278423	G	A	97278423	3	1	331	1	0	0	0	0	1	0	0	0	12805	1349	47	4	1373	4	PTBP2	1	97278423	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	2935056	97278423	151972198	15	61334											
GPR61	83873	broad.mit.edu	37	chr1	110086442	110086442	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagccgctccacgatggtCaccagctcgggggcccccca	7	4	12	18	3	1	0	1	0	0	0	3	1	2	0	6	3	3	3	6	3	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:110086442C>T	ENST00000527748.1	+	2	1481	c.798C>T	c.(796-798)gtC>gtT	p.V266V	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	266						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCACGATGGTCACCAGCTCGG	0.677													19	59					0	0	0	0	T	110086442	C	T	110086442	2	4	331	1	0	0	0	0	0	0	0	1	6751	813	29	2		2	GPR61	1	110086442	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	12808019	110086442	139164179	16	61335											
HIPK1	204851	broad.mit.edu	37	chr1	114499369	114499369	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagataagagaattacccctCtaaaaactcttaaccatcag	17	9	4	11	0	3	2	1	0	2	2	3	3	3	2	3	0	3	0	3	0	7	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:114499369C>T	ENST00000369558.1	+	6	1760	c.1528C>T	c.(1528-1530)Cta>Tta	p.L510L	HIPK1_ENST00000406344.1_Silent_p.L116L|HIPK1_ENST00000369559.4_Silent_p.L510L|HIPK1_ENST00000426820.2_Silent_p.L510L|HIPK1_ENST00000369561.4_Silent_p.L510L|HIPK1_ENST00000369553.1_Silent_p.L116L|HIPK1_ENST00000369554.2_Silent_p.L510L|HIPK1_ENST00000369555.2_Silent_p.L510L|HIPK1_ENST00000340480.4_Silent_p.L136L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	510	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTACCCCTCTAAAAACTCT	0.408													9	34					0	0	0	0	T	114499369	C	T	114499369	2	4	331	1	0	0	0	0	0	0	0	1	7166	912	32	2		2	HIPK1	1	114499369	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	4412927	114499369	134751252	17	61336											
TSHB	7252	broad.mit.edu	37	chr1	115576668	115576668	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatatagagacttcatctaCaggactgtagaaataccagg	16	9	8	8	0	2	2	1	0	1	2	2	4	2	3	1	2	2	1	1	2	6	6			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:115576668C>A	ENST00000256592.1	+	3	305	c.237C>A	c.(235-237)taC>taA	p.Y79*	TSHB_ENST00000369517.1_Nonsense_Mutation_p.Y79*	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	79					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		ACTTCATCTACAGGACTGTAG	0.423													31	51					1.55811e-20	1.76267e-20	1	0	A	115576668	C	A	115576668	4	1	331	1	0	0	0	0	0	1	0	0	16716	489	17	4	243	4	TSHB	1	115576668	Nonsense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	1077299	115576668	133673953	18	61337											
TARS2	80222	broad.mit.edu	37	chr1	150463905	150463905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagctgcctgttttggagcGgatttgccaggaacttacag	9	11	13	8	1	0	1	0	0	0	1	0	4	0	4	2	3	6	2	2	3	2	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:150463905G>A	ENST00000369064.3	+	5	582	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	TARS2_ENST00000606933.1_Missense_Mutation_p.R183Q|TARS2_ENST00000369054.2_Missense_Mutation_p.R183Q|TARS2_ENST00000438568.2_Silent_p.A141A	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	183					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GTTTTGGAGCGGATTTGCCAG	0.562													16	59					0	0	0	0	A	150463905	G	A	150463905	3	1	331	1	0	0	0	0	1	0	0	0	15651	1116	39	1	566	1	TARS2	1	150463905	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	34887237	150463905	98786716	19	61338											
FLG	2312	broad.mit.edu	37	chr1	152283469	152283469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctcttgactgctcccgaGaagatccatgatggtttctg	8	13	9	11	1	2	4	0	2	2	2	5	5	4	4	2	1	1	2	2	1	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:152283469G>A	ENST00000368799.1	-	3	3928	c.3893C>T	c.(3892-3894)tCt>tTt	p.S1298F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1298	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctgctcccgagaagatccatg	0.552									Ichthyosis				51	166					0	0	0	0	A	152283469	G	A	152283469	3	1	331	1	0	0	0	0	1	0	0	0	5967	942	33	2	8296	2	FLG	1	152283469	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	1819564	152283469	96967152	20	61339											
KIAA0907	22889	broad.mit.edu	37	chr1	155884061	155884061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatgaatctgcagcataagCcaccaagccaaatcccttct	14	8	6	13	0	2	2	0	1	2	1	3	2	3	2	4	0	4	2	4	0	4	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:155884061C>T	ENST00000368321.3	-	14	1719	c.1696G>A	c.(1696-1698)Gct>Act	p.A566T	KIAA0907_ENST00000368320.3_3'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	566										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCAGCATAAGCCACCAAGCCA	0.438													6	24					0	0	0	0	T	155884061	C	T	155884061	3	4	331	1	0	0	0	0	1	0	0	0	8250	739	26	4	152	4	KIAA0907	1	155884061	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	3600592	155884061	93366560	21	61340											
UBQLN4	56893	broad.mit.edu	37	chr1	156021499	156021499	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgctcctgaacttacttCtgaggggtcttgatgaccag	7	13	10	11	0	3	4	0	4	3	0	4	4	4	4	2	2	3	1	2	2	2	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:156021499C>T	ENST00000368309.3	-	2	350	c.258G>A	c.(256-258)caG>caA	p.Q86Q	UBQLN4_ENST00000368307.1_Silent_p.Q86Q|UBQLN4_ENST00000472638.1_5'UTR	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	86	Ubiquitin-like.					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GAACTTACTTCTGAGGGGTCT	0.522													12	26					0	0	0	0	T	156021499	C	T	156021499	2	4	331	1	0	0	0	0	0	0	0	1	16995	912	32	2		2	UBQLN4	1	156021499	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	137438	156021499	93229122	22	61341											
C1orf105	92346	broad.mit.edu	37	chr1	172414284	172414284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaaacaagccattagtgctCagccttcccagaaggtaacc	13	8	8	12	0	1	1	1	0	0	1	2	1	2	1	4	1	5	3	4	1	6	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:172414284C>T	ENST00000367727.4	+	2	291	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	31										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CATTAGTGCTCAGCCTTCCCA	0.433													5	20					0	0	0	0	T	172414284	C	T	172414284	2	4	331	1	0	0	0	0	0	0	0	1	1998	813	29	2		2	C1orf105	1	172414284	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	16392785	172414284	76836337	23	61342											
CRB1	23418	broad.mit.edu	37	chr1	197390563	197390563	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggatgtgtttgtgaagctGgagctgctaagtggctacat	9	12	15	5	0	0	1	0	1	0	0	0	3	0	3	0	3	4	5	0	3	3	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:197390563G>A	ENST00000367400.3	+	6	1740	c.1605G>A	c.(1603-1605)ctG>ctA	p.L535L	CRB1_ENST00000543483.1_Silent_p.L234L|CRB1_ENST00000535699.1_Silent_p.L466L|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Silent_p.L535L|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.L423L|CRB1_ENST00000544212.1_Silent_p.L16L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	535	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGTGAAGCTGGAGCTGCTAA	0.458													16	43					0	0	0	0	A	197390563	G	A	197390563	2	1	331	1	0	0	0	0	0	0	0	1	3878	1335	47	4		4	CRB1	1	197390563	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	24976279	197390563	51860058	24	61343											
KIF21B	23046	broad.mit.edu	37	chr1	200969536	200969536	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcttcctccgctgcctgAcctccttcttctttagccgc	3	14	5	19	2	3	1	0	1	3	0	6	1	6	1	7	0	2	1	7	0	1	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:200969536A>T	ENST00000332129.2	-	11	1983	c.1667T>A	c.(1666-1668)gTc>gAc	p.V556D	KIF21B_ENST00000422435.2_Missense_Mutation_p.V556D|KIF21B_ENST00000360529.5_Missense_Mutation_p.V556D|KIF21B_ENST00000461742.2_Missense_Mutation_p.V556D	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	556					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCGCTGCCTGACCTCCTTCTT	0.687													63	69					0	0	0	0	T	200969536	A	T	200969536	3	4	331	1	0	0	0	0	1	0	0	0	8340	275	10	5	3303	5	KIF21B	1	200969536	Missense_Mutation	SNP	A	TCGA-CV-A45Q-01A-11D-A24D-08	3578973	200969536	48281085	25	61344											
CNIH4	29097	broad.mit.edu	37	chr1	224544695	224544695	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atcttcctctcggtctacttCgtatccttgcctgaggcagg	5	14	9	13	2	3	1	0	1	3	0	7	1	5	1	3	3	2	2	3	3	2	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:224544695C>G	ENST00000465271.1	+	1	144	c.69_splice	c.e1+1	p.F23_splice	CNIH4_ENST00000366857.5_Splice_Site_p.F23_splice|CNIH4_ENST00000366856.3_Splice_Site_p.F23_splice|CNIH4_ENST00000366858.3_Splice_Site_p.F23_splice|CNIH4_ENST00000468318.1_3'UTR	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	23					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		CGGTCTACTTCGTATCCTTGC	0.662													7	2					0	0	0	0	G	224544695	C	G	224544695	5	3	331	1	0	0	0	0	0	0	1	0	3635	898	31	3	71	3	CNIH4	1	224544695	Splice_Site	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	23575159	224544695	24705926	26	61345											
TBCE	6905	broad.mit.edu	37	chr1	235599721	235599721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttagaacaattaatcctctCtgacactggaatttcttctc	11	15	5	10	0	3	2	0	1	3	1	6	3	4	3	1	1	1	1	1	1	5	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:235599721C>G	ENST00000543662.1	+	11	1113	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C	TBCE_ENST00000366601.3_Missense_Mutation_p.S285C|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.S285C			Q15813	TBCE_HUMAN	tubulin folding cofactor E	285					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TTAATCCTCTCTGACACTGGA	0.373													6	19					0	0	0	0	G	235599721	C	G	235599721	3	3	331	1	0	0	0	0	1	0	0	0	15728	913	32	2	888	2	TBCE	1	235599721	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	11055026	235599721	13650900	27	61346											
LYST	1130	broad.mit.edu	37	chr1	235933543	235933543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaaacatctgctggtggtGatctgctctgatgaggactt	9	14	11	7	0	3	3	0	3	3	0	3	4	3	4	0	3	3	2	0	3	2	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr1:235933543G>C	ENST00000389794.3	-	20	6013	c.5839C>G	c.(5839-5841)Cac>Gac	p.H1947D	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.H1947D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1947					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCTGGTGGTGATCTGCTCTG	0.388													10	28					0	0	0	0	C	235933543	G	C	235933543	3	2	331	1	0	0	0	0	1	0	0	0	9193	1290	45	2	5702	2	LYST	1	235933543	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	333822	235933543	13317078	28	61347											
TTC27	55622	broad.mit.edu	37	chr2	32865416	32865416	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcctgacctcgaagcctaTactactgttattagcacgca	11	10	7	13	2	0	1	0	1	0	0	1	2	0	1	3	0	5	3	3	0	6	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:32865416T>G	ENST00000317907.4	+	4	707	c.476T>G	c.(475-477)aTa>aGa	p.I159R		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	159							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TCGAAGCCTATACTACTGTTA	0.403													10	25					0	0	0	0	G	32865416	T	G	32865416	3	3	331	1	0	0	0	0	1	0	0	0	16791	1406	49	5	490	5	TTC27	2	32865416	Missense_Mutation	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08		32865416	210333957	29	61348											
FBXO48	554251	broad.mit.edu	37	chr2	68691491	68691491	+	Silent	SNP	C	C	T																															ttactcttctggtaattcctCagcagtatcacctgaaagag																										TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:68691491C>T	ENST00000377957.2	-	4	725	c.318G>A	c.(316-318)ctG>ctA	p.L106L		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	106										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						GGTAATTCCTCAGCAGTATCA	0.408													9	31					0	0	0	0	T	68691491	C	T	68691491	2	4	331	1	0	0	0	0	0	0	0	1	5802	813	29	2		2	FBXO48	2	68691491	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	35826075	68691491	174507882	30	61349	737	2									
FBXO48	554251	broad.mit.edu	37	chr2	68691500	68691500	+	Silent	SNP	C	C	T																															tggtaattcctcagcagtatCacctgaaagaggtaaatcac																										TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:68691500C>T	ENST00000377957.2	-	4	716	c.309G>A	c.(307-309)gtG>gtA	p.V103V		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	103										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TCAGCAGTATCACCTGAAAGA	0.393													8	30					0	0	0	0	T	68691500	C	T	68691500	2	4	331	1	0	0	0	0	0	0	0	1	5802	813	29	2		2	FBXO48	2	68691500	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	9	68691500	174507873	31	61350	737	2									
MTHFD2	10797	broad.mit.edu	37	chr2	74425844	74425844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagctgctcccttcgccttCgccctttccacctcgcggca	4	10	7	20	4	0	0	0	0	0	0	5	0	2	0	5	1	2	3	5	1	0	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:74425844C>T	ENST00000394053.2	+	1	156	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	MTHFD2_ENST00000409804.1_Missense_Mutation_p.R26C|MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000264090.4_5'UTR|MTHFD2_ENST00000409601.1_Missense_Mutation_p.R26C|MTHFD2_ENST00000477455.1_3'UTR	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	26					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CCTTCGCCTTCGCCCTTTCCA	0.687													12	8					0	0	0	0	T	74425844	C	T	74425844	3	4	331	1	0	0	0	0	1	0	0	0	9999	884	31	1	78	1	MTHFD2	2	74425844	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	5734344	74425844	168773529	32	61351											
LRRTM4	80059	broad.mit.edu	37	chr2	76975852	76975852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctctctaggtagatggccGgtgctgccgacctggcgatg	5	11	14	11	3	2	1	0	0	2	1	3	3	2	1	3	4	2	2	3	4	2	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:76975852G>A	ENST00000409911.1	-	3	1968	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	LRRTM4_ENST00000409884.1_Missense_Mutation_p.P581L|LRRTM4_ENST00000409093.1_Missense_Mutation_p.P581L	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	581						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTAGATGGCCGGTGCTGCCGA	0.592													31	70					0	0	0	0	A	76975852	G	A	76975852	3	1	331	1	0	0	0	0	1	0	0	0	9106	1116	39	1	34	1	LRRTM4	2	76975852	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	2550008	76975852	166223521	33	61352											
FHL2	2274	broad.mit.edu	37	chr2	106015388	106015388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctggtggctaagcccctCggcctccctccggggcgcag	3	6	14	18	3	0	0	0	0	0	0	3	0	2	0	6	5	1	2	6	5	1	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:106015388C>T	ENST00000344213.4	-	1	293	c.166G>A	c.(166-168)Gag>Aag	p.E56K	FHL2_ENST00000322142.8_Intron|FHL2_ENST00000358129.4_5'UTR|FHL2_ENST00000393352.3_Intron|FHL2_ENST00000393353.3_5'UTR|FHL2_ENST00000408995.1_Intron|FHL2_ENST00000409177.1_Intron|FHL2_ENST00000607522.1_Intron|FHL2_ENST00000336660.5_Intron			Q14192	FHL2_HUMAN	four and a half LIM domains 2	0	LIM zinc-binding 1.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						CTAAGCCCCTCGGCCTCCCTC	0.731													5	8					0	0	0	0	T	106015388	C	T	106015388	3	4	331	1	0	0	0	0	1	0	0	0	5924	899	31	1		1	FHL2	2	106015388	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	29039536	106015388	137183985	34	61353											
NPHP1	4867	broad.mit.edu	37	chr2	110917743	110917743	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaggcgtacatgtctgctGagaacctgtatgctcattcc	9	11	10	11	1	2	2	1	1	1	2	3	3	3	2	2	1	4	4	2	1	3	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:110917743G>A	ENST00000316534.4	-	11	1285	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	NPHP1_ENST00000417665.1_Silent_p.L347L|NPHP1_ENST00000393272.3_Silent_p.L403L|NPHP1_ENST00000355301.4_Silent_p.L285L|NPHP1_ENST00000445609.2_Silent_p.L348L			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	403					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CATGTCTGCTGAGAACCTGTA	0.373													16	28					0	0	0	0	A	110917743	G	A	110917743	2	1	331	1	0	0	0	0	0	0	0	1	10649	1277	45	2		2	NPHP1	2	110917743	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4902355	110917743	132281630	35	61354											
WDR33	55339	broad.mit.edu	37	chr2	128480908	128480908	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttatcacctggtcggtttcGagtccagaatttgctgtaaa	9	15	9	8	2	1	1	1	0	0	1	4	2	2	1	2	2	1	3	2	2	4	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:128480908G>A	ENST00000322313.4	-	12	1368	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	404					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTCGGTTTCGAGTCCAGAAT	0.388													13	23					0	0	0	0	A	128480908	G	A	128480908	4	1	331	1	0	0	0	0	0	1	0	0	17383	1066	37	1	2844	1	WDR33	2	128480908	Nonsense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	17563165	128480908	114718465	36	61355											
LCT	3938	broad.mit.edu	37	chr2	136561591	136561591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaccttgtctcccagcctCtggaagagcacatctgcata	9	11	7	14	0	4	1	1	0	3	1	5	2	4	2	3	1	3	2	3	1	2	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:136561591C>T	ENST00000264162.2	-	11	4582	c.4572G>A	c.(4570-4572)caG>caA	p.Q1524Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1524	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCCCAGCCTCTGGAAGAGCA	0.527													12	40					0	0	0	0	T	136561591	C	T	136561591	2	4	331	1	0	0	0	0	0	0	0	1	8746	912	32	2		2	LCT	2	136561591	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	8080683	136561591	106637782	37	61356											
THSD7B	80731	broad.mit.edu	37	chr2	138169408	138169408	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgttctgataaaaatggAagacctgttgacccctcctt	10	12	8	11	0	1	3	0	2	1	1	2	4	2	4	5	1	0	2	5	1	4	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:138169408A>G	ENST00000409968.1	+	14	3103	c.2925A>G	c.(2923-2925)ggA>ggG	p.G975G	THSD7B_ENST00000413152.2_Silent_p.G944G|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.G975G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATAAAAATGGAAGACCTGTTG	0.532													10	31					0	0	0	0	G	138169408	A	G	138169408	2	3	331	1	0	0	0	0	0	0	0	1	15974	233	9	5		5	THSD7B	2	138169408	Silent	SNP	A	TCGA-CV-A45Q-01A-11D-A24D-08	1607817	138169408	105029965	38	61357											
KIF5C	3800	broad.mit.edu	37	chr2	149818561	149818561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagaagaaatatgaaaaaGagaaagagaaaaacaagact	26	3	10	2	0	0	6	0	1	0	5	0	9	0	7	0	1	1	0	0	1	10	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:149818561G>C	ENST00000435030.1	+	11	1413	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	KIF5C_ENST00000397413.1_Missense_Mutation_p.E117Q|KIF5C_ENST00000414838.2_Missense_Mutation_p.E254Q|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	349	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATATGAAAAAGAGAAAGAGAA	0.398													4	16					0	0	0	0	C	149818561	G	C	149818561	3	2	331	1	0	0	0	0	1	0	0	0	8358	943	33	2	1009	2	KIF5C	2	149818561	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	11649153	149818561	93380812	39	61358											
ERMN	57471	broad.mit.edu	37	chr2	158178271	158178271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttatttcctggttacTgccactcagaggaatcttct	7	17	6	11	0	5	1	1	0	4	1	6	2	6	2	2	2	2	1	2	2	3	5	rs140855571	by1000genomes	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:158178271T>C	ENST00000410096.1	-	3	658	c.367A>G	c.(367-369)Agt>Ggt	p.S123G	ERMN_ENST00000409925.1_3'UTR|ERMN_ENST00000420719.2_Missense_Mutation_p.S103G|ERMN_ENST00000397283.2_Missense_Mutation_p.S136G|ERMN_ENST00000535935.1_Missense_Mutation_p.S17G|ERMN_ENST00000409216.1_3'UTR	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	123						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCCTGGTTACTGCCACTCAGA	0.448													3	26					0	0	0	0	C	158178271	T	C	158178271	3	2	331	1	0	0	0	0	1	0	0	0	5273	1580	55	5	491	5	ERMN	2	158178271	Missense_Mutation	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	8359710	158178271	85021102	40	61359											
SCN1A	6323	broad.mit.edu	37	chr2	166905425	166905425	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctatttccacatagtagTgcatctaaaaaaccctccag	14	10	6	11	0	1	0	0	0	1	0	3	1	3	0	3	0	3	3	3	0	6	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:166905425T>C	ENST00000423058.2	-	7	1016	c.999A>G	c.(997-999)gcA>gcG	p.A333A	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.A333A|SCN1A_ENST00000375405.3_Silent_p.A333A|SCN1A_ENST00000303395.4_Silent_p.A333A|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	333						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CACATAGTAGTGCATCTAAAA	0.328													3	11					0	0	0	0	C	166905425	T	C	166905425	2	2	331	1	0	0	0	0	0	0	0	1	14001	1683	59	5		5	SCN1A	2	166905425	Silent	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	8727154	166905425	76293948	41	61360											
SCN9A	6335	broad.mit.edu	37	chr2	167138190	167138190	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagaagattattacataccTtccacagtgtttgttaatat	15	15	5	6	0	0	2	0	0	0	2	1	2	1	2	2	0	2	2	2	0	7	7			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:167138190T>G	ENST00000375387.4	-	13	2446	c.2107_splice	c.e13+1	p.E702_splice	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Splice_Site_p.E690_splice|SCN9A_ENST00000409435.1_Splice_Site_p.E701_splice|SCN9A_ENST00000303354.6_Splice_Site_p.E702_splice			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	701						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATTACATACCTTCCACAGTGT	0.353													10	25					0	0	0	0	G	167138190	T	G	167138190	5	3	331	1	0	0	0	0	0	0	1	0	14012	1623	56	5	3923	5	SCN9A	2	167138190	Splice_Site	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	232765	167138190	76061183	42	61361											
XIRP2	129446	broad.mit.edu	37	chr2	168107253	168107253	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctccctctttaaaaacacgCccaccgtcaccaacttttat	11	11	2	17	2	2	0	1	0	1	0	3	0	3	0	5	0	2	0	5	0	5	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:168107253C>T	ENST00000409195.1	+	9	9440	c.9351C>T	c.(9349-9351)cgC>cgT	p.R3117R	XIRP2_ENST00000295237.9_Silent_p.R3117R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.R2895R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2942					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						TAAAAACACGCCCACCGTCAC	0.428													15	45					0	0	0	0	T	168107253	C	T	168107253	2	4	331	1	0	0	0	0	0	0	0	1	17526	726	26	4		4	XIRP2	2	168107253	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	969063	168107253	75092120	43	61362											
LRP2	4036	broad.mit.edu	37	chr2	170096157	170096157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctagaatatcacattcatCtatgtcttcacaggtcttag	11	14	6	10	0	6	1	3	0	3	1	6	1	6	1	1	1	0	0	1	1	5	6			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:170096157C>G	ENST00000263816.3	-	26	4459	c.4174G>C	c.(4174-4176)Gat>Cat	p.D1392H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1392	EGF-like 6; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCACATTCATCTATGTCTTCA	0.438													16	40					0	0	0	0	G	170096157	C	G	170096157	3	3	331	1	0	0	0	0	1	0	0	0	9020	913	32	2	10009	2	LRP2	2	170096157	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	1988904	170096157	73103216	44	61363											
LRP2	4036	broad.mit.edu	37	chr2	170139444	170139444	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccttcttcacagtggcaCaggtgacggccaggtcggct	7	9	12	13	2	2	1	1	1	1	0	3	1	2	1	2	5	1	2	2	5	1	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:170139444C>G	ENST00000263816.3	-	10	1395	c.1110G>C	c.(1108-1110)ctG>ctC	p.L370L	LRP2_ENST00000443831.1_Silent_p.L370L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	370	EGF-like 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACAGTGGCACAGGTGACGGC	0.443													18	81					0	0	0	0	G	170139444	C	G	170139444	2	3	331	1	0	0	0	0	0	0	0	1	9020	465	17	4		4	LRP2	2	170139444	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	43287	170139444	73059929	45	61364											
TTN	7273	broad.mit.edu	37	chr2	179566974	179566974	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgatgaccgagtagacaccTagggtgaaaaatcatccaac	15	6	10	10	2	1	3	1	2	0	1	2	5	2	3	3	1	1	1	3	1	5	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:179566974T>A	ENST00000589042.1	-	108	30658		c.e108-2		TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			AGTAGACACCTAGGGTGAAAA	0.418													6	19					0	0	0	0	A	179566974	T	A	179566974	5	1	331	1	0	0	0	0	0	0	1	0	16831	1536	53	5	74117	5	TTN	2	179566974	Splice_Site	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	9427530	179566974	63632399	46	61365											
DNAJC10	54431	broad.mit.edu	37	chr2	183623957	183623957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttctacaagggaaaaatCattgggtgattgatttctat	14	14	9	4	0	3	2	1	2	2	0	3	3	3	3	0	2	1	1	0	2	6	6			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:183623957C>T	ENST00000264065.6	+	21	2483	c.2068C>T	c.(2068-2070)Cat>Tat	p.H690Y		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	690	Thioredoxin 4.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGGGAAAAATCATTGGGTGAT	0.378													8	24					0	0	0	0	T	183623957	C	T	183623957	3	4	331	1	0	0	0	0	1	0	0	0	4665	826	29	2	2142	2	DNAJC10	2	183623957	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	4056983	183623957	59575416	47	61366											
DNAH7	56171	broad.mit.edu	37	chr2	196661404	196661404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttctaacatcttcatagCaatgggcccttggccttgac	8	15	7	11	0	3	1	1	1	2	0	3	1	3	1	2	2	2	1	2	2	3	7			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:196661404C>T	ENST00000312428.6	-	56	10511	c.10411G>A	c.(10411-10413)Gct>Act	p.A3471T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3471	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A3471P(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTTCATAGCAATGGGCCCT	0.413													6	12					0	0	0	0	T	196661404	C	T	196661404	3	4	331	1	0	0	0	0	1	0	0	0	4642	710	25	4	1703	4	DNAH7	2	196661404	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	13037447	196661404	46537969	48	61367											
DNAH7	56171	broad.mit.edu	37	chr2	196837116	196837116	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatactcgatgaggaaggcGaggcagtttttggaatccac	12	9	12	8	2	0	1	0	1	0	0	2	5	1	3	1	4	1	2	1	4	3	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:196837116G>A	ENST00000312428.6	-	16	2008	c.1908C>T	c.(1906-1908)ctC>ctT	p.L636L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	636	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGAGGAAGGCGAGGCAGTTTT	0.398													11	40					0	0	0	0	A	196837116	G	A	196837116	2	1	331	1	0	0	0	0	0	0	0	1	4642	1045	37	1		1	DNAH7	2	196837116	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	175712	196837116	46362257	49	61368											
NBEAL1	65065	broad.mit.edu	37	chr2	204058534	204058534	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaggaaccacaccctccaaGattatcagcagaagaagcag	17	4	9	11	0	1	3	1	0	0	3	2	5	2	4	3	1	3	2	3	1	6	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:204058534G>C	ENST00000449802.1	+	46	7184	c.6851G>C	c.(6850-6852)aGa>aCa	p.R2284T		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2284	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CACCCTCCAAGATTATCAGCA	0.363													6	28					0	0	0	0	C	204058534	G	C	204058534	3	2	331	1	0	0	0	0	1	0	0	0	10258	942	33	2	7029	2	NBEAL1	2	204058534	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	7221418	204058534	39140839	50	61369											
SEPT2	4735	broad.mit.edu	37	chr2	242283205	242283205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttggatccaatcagttGattgaagccaaaggaaagaa	15	9	12	5	0	1	3	1	2	0	1	2	5	2	5	2	3	1	2	2	3	5	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr2:242283205G>T	ENST00000391973.2	+	9	1263	c.735G>T	c.(733-735)ttG>ttT	p.L245F	SEPT2_ENST00000360051.3_Missense_Mutation_p.L245F|SEPT2_ENST00000401990.1_Missense_Mutation_p.L255F|SEPT2_ENST00000402092.2_Missense_Mutation_p.L245F|SEPT2_ENST00000391971.2_Missense_Mutation_p.L245F|SEPT2_ENST00000407971.1_Missense_Mutation_p.L205F	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	245					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CCAATCAGTTGATTGAAGCCA	0.517													56	144					3.85841e-42	4.38949e-42	1	0	T	242283205	G	T	242283205	3	4	331	1	0	0	0	0	1	0	0	0	14151	1281	45	2	765	2	SEPT2	2	242283205	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	38224671	242283205	916168	51	61370											
TRNT1	51095	broad.mit.edu	37	chr3	3186340	3186340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taagaaagttagatttgttgGacatgctaaacagagaatac	17	11	9	4	0	0	3	0	0	0	3	0	5	0	4	0	1	3	3	0	1	7	6			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:3186340G>T	ENST00000251607.6	+	5	656	c.554G>T	c.(553-555)gGa>gTa	p.G185V	TRNT1_ENST00000280591.6_Missense_Mutation_p.G185V	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	185					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AGATTTGTTGGACATGCTAAA	0.254													13	23					7.03913e-09	7.70499e-09	1	0	T	3186340	G	T	3186340	3	4	331	1	0	0	0	0	1	0	0	0	16668	1174	41	2	568	2	TRNT1	3	3186340	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08		3186340	194836090	52	61371											
FBLN2	2199	broad.mit.edu	37	chr3	13659771	13659771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactgcaggacgatggccGcacttgccgcccaggtaagg	8	6	13	14	3	1	0	1	0	0	0	1	2	1	1	3	4	2	3	3	4	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:13659771G>T	ENST00000404922.3	+	6	2044	c.1925G>T	c.(1924-1926)cGc>cTc	p.R642L	FBLN2_ENST00000492059.1_Missense_Mutation_p.R642L|FBLN2_ENST00000535798.1_Missense_Mutation_p.R668L|FBLN2_ENST00000295760.7_Missense_Mutation_p.R642L	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	642	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GACGATGGCCGCACTTGCCGC	0.617													17	41					1.99824e-07	2.16387e-07	1	0	T	13659771	G	T	13659771	3	4	331	1	0	0	0	0	1	0	0	0	5744	1087	38	3	633	3	FBLN2	3	13659771	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	10473431	13659771	184362659	53	61372											
FGD5	152273	broad.mit.edu	37	chr3	14862606	14862606	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgtggatgtgaacgtgtcTtcctctaggtcctcttcaga	7	14	10	10	1	4	2	1	1	3	1	6	3	6	3	2	2	1	0	2	2	2	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:14862606T>C	ENST00000285046.5	+	1	2138	c.2028T>C	c.(2026-2028)tcT>tcC	p.S676S	FGD5_ENST00000543601.1_Silent_p.S435S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	676					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGAACGTGTCTTCCTCTAGGT	0.502													9	32					0	0	0	0	C	14862606	T	C	14862606	2	2	331	1	0	0	0	0	0	0	0	1	5881	1596	56	5		5	FGD5	3	14862606	Silent	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	1202835	14862606	183159824	54	61373											
MYRIP	25924	broad.mit.edu	37	chr3	40251521	40251521	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcccaagacagaatctgaGaaccagaaggaaagtctgtc	16	5	11	9	0	2	4	0	1	2	4	3	7	2	5	2	1	2	0	2	1	5	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:40251521G>C	ENST00000302541.6	+	11	2184	c.1842G>C	c.(1840-1842)gaG>gaC	p.E614D	MYRIP_ENST00000539167.1_Missense_Mutation_p.E427D|MYRIP_ENST00000425621.1_Missense_Mutation_p.E614D|MYRIP_ENST00000396217.3_Missense_Mutation_p.E525D|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.E614D	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	614	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAGAATCTGAGAACCAGAAGG	0.493													8	19					0	0	0	0	C	40251521	G	C	40251521	3	2	331	1	0	0	0	0	1	0	0	0	10170	933	33	2	1880	2	MYRIP	3	40251521	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	25388915	40251521	157770909	55	61374											
SEMA3G	56920	broad.mit.edu	37	chr3	52474988	52474988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctcggcaccaccagggccgGgcaccgagcagaccagcctg	8	3	13	17	3	1	1	0	0	1	1	2	2	1	1	6	3	2	3	6	3	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:52474988G>A	ENST00000231721.2	-	8	889	c.890C>T	c.(889-891)cCc>cTc	p.P297L		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	297	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		ACCAGGGCCGGGCACCGAGCA	0.642													13	25					0	0	0	0	A	52474988	G	A	52474988	3	1	331	1	0	0	0	0	1	0	0	0	14117	1232	43	4	1494	4	SEMA3G	3	52474988	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	12223467	52474988	145547442	56	61375											
TMEM110	375346	broad.mit.edu	37	chr3	52877740	52877740	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaacatggcactgacgttGacaaagaaggggacgatcag	14	6	13	8	2	1	3	1	2	0	1	1	5	1	4	0	3	2	3	0	3	3	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:52877740G>C	ENST00000355083.5	-	6	760	c.615C>G	c.(613-615)gtC>gtG	p.V205V	TMEM110-MUSTN1_ENST00000504329.1_Silent_p.V205V	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		CACTGACGTTGACAAAGAAGG	0.502													19	42					0	0	0	0	C	52877740	G	C	52877740	2	2	331	1	0	0	0	0	0	0	0	1	16121	1277	45	2		2	TMEM110	3	52877740	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	402752	52877740	145144690	57	61376											
CACNA1D	776	broad.mit.edu	37	chr3	53837488	53837488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagctcccaactatttgccGggaagacccagagatacatg	13	7	9	12	1	0	2	0	0	0	2	1	4	1	3	3	1	4	1	3	1	4	3	rs139829141	byFrequency	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:53837488G>A	ENST00000288139.3	+	45	5652	c.5534G>A	c.(5533-5535)cGg>cAg	p.R1845Q	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1801Q|CACNA1D_ENST00000544977.1_Missense_Mutation_p.R204Q|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1825Q	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1825					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACTATTTGCCGGGAAGACCCA	0.557													34	91					0	0	0	0	A	53837488	G	A	53837488	3	1	331	1	0	0	0	0	1	0	0	0	2566	1116	39	1	5820	1	CACNA1D	3	53837488	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	959748	53837488	144184942	58	61377											
ERC2	26059	broad.mit.edu	37	chr3	55984528	55984528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtaactgagcatttttcttCttttccaactgttgattgtg	8	19	7	7	0	2	2	0	2	2	0	3	2	3	2	1	0	3	3	1	0	2	8			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:55984528C>G	ENST00000288221.6	-	13	2583	c.2328G>C	c.(2326-2328)aaG>aaC	p.K776N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	776						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CATTTTTCTTCTTTTCCAACT	0.433													13	31					0	0	0	0	G	55984528	C	G	55984528	3	3	331	1	0	0	0	0	1	0	0	0	5249	912	32	2	565	2	ERC2	3	55984528	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2147040	55984528	142037902	59	61378											
FLNB	2317	broad.mit.edu	37	chr3	58133998	58133998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcctgctcgacatcagtGagactgacctcagcagcctg	9	9	9	14	1	2	2	2	2	0	1	4	4	3	2	3	0	3	2	3	0	0	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:58133998G>A	ENST00000357272.4	+	35	5959	c.5794G>A	c.(5794-5796)Gag>Aag	p.E1932K	FLNB_ENST00000348383.5_Missense_Mutation_p.E1932K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1932K|FLNB_ENST00000493452.1_Missense_Mutation_p.E1739K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1963K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1921K|FLNB_ENST00000419752.2_Missense_Mutation_p.E1752K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1908K			O75369	FLNB_HUMAN	filamin B, beta	1932	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGACATCAGTGAGACTGACCT	0.587													9	16					0	0	0	0	A	58133998	G	A	58133998	3	1	331	1	0	0	0	0	1	0	0	0	5979	1291	45	2	6029	2	FLNB	3	58133998	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	2149470	58133998	139888432	60	61379											
GPR156	165829	broad.mit.edu	37	chr3	119886327	119886327	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtctgtcttgaggatctGaaggtagtgaaggcttcctg	7	13	14	7	0	3	3	0	3	3	0	4	4	4	4	1	4	0	2	1	4	3	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:119886327G>C	ENST00000464295.1	-	10	2442	c.1997C>G	c.(1996-1998)tCa>tGa	p.S666*	GPR156_ENST00000315843.3_Nonsense_Mutation_p.S666*|GPR156_ENST00000461057.1_Nonsense_Mutation_p.S662*			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	666						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TTGAGGATCTGAAGGTAGTGA	0.567													6	40					0	0	0	0	C	119886327	G	C	119886327	4	2	331	1	0	0	0	0	0	1	0	0	6710	1294	45	2	451	2	GPR156	3	119886327	Nonsense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	61752329	119886327	78136103	61	61380											
ZNF148	7707	broad.mit.edu	37	chr3	124998092	124998092	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatttattgtaaggatCtagttcaaaaaaaaaaaggc	17	12	6	6	0	3	0	2	0	1	0	4	1	4	1	1	2	0	2	1	2	8	6			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:124998092C>A	ENST00000360647.4	-	6	945		c.e6-1		ZNF148_ENST00000484491.1_Splice_Site|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000497929.1_Splice_Site|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Splice_Site|ZNF148_ENST00000485866.1_Splice_Site	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148						cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTGTAAGGATCTAGTTCAAAA	0.308													4	25					3.59834e-05	3.80503e-05	1	0	A	124998092	C	A	124998092	5	1	331	1	0	0	0	0	0	0	1	0	17829	927	32	2	1941	2	ZNF148	3	124998092	Splice_Site	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	5111765	124998092	73024338	62	61381											
MRPS22	56945	broad.mit.edu	37	chr3	139067062	139067062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgccaccagttctggaaGagcgagtaccaataaatgat	16	8	9	8	1	1	2	0	1	1	1	1	4	1	3	3	1	3	2	3	1	6	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:139067062G>C	ENST00000495075.1	+	5	832	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	MRPS22_ENST00000465056.1_Missense_Mutation_p.E133Q|MRPS22_ENST00000310776.4_Missense_Mutation_p.E134Q|MRPS22_ENST00000478464.1_Missense_Mutation_p.E93Q			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	134						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						AGTTCTGGAAGAGCGAGTACC	0.358													7	20					0	0	0	0	C	139067062	G	C	139067062	3	2	331	1	0	0	0	0	1	0	0	0	9903	943	33	2	410	2	MRPS22	3	139067062	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	14068970	139067062	58955368	63	61382											
MED12L	116931	broad.mit.edu	37	chr3	151095916	151095916	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagaagggacagcactTgggttcttcttccaaaaagg	11	9	13	8	0	2	1	0	0	2	1	3	3	3	2	1	4	1	3	1	4	3	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:151095916T>A	ENST00000474524.1	+	29	4366	c.4328T>A	c.(4327-4329)tTg>tAg	p.L1443*	MED12L_ENST00000273432.4_Nonsense_Mutation_p.L1303*|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1443					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGACAGCACTTGGGTTCTTCT	0.507													8	21					0	0	0	0	A	151095916	T	A	151095916	4	1	331	1	0	0	0	0	0	1	0	0	9498	1821	63	5	4442	5	MED12L	3	151095916	Nonsense_Mutation	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	12028854	151095916	46926514	64	61383											
KCNAB1	7881	broad.mit.edu	37	chr3	156241659	156241659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattgtaagtgaagaagggaGaaaacagcaaaacaagctaa	22	5	10	4	0	0	3	0	1	0	2	0	4	0	3	0	1	4	3	0	1	10	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:156241659G>A	ENST00000302490.8	+	12	1821	c.950G>A	c.(949-951)aGa>aAa	p.R317K	KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000490337.1_Missense_Mutation_p.R335K|KCNAB1_ENST00000471742.1_Missense_Mutation_p.R324K|KCNAB1_ENST00000389634.5_Missense_Mutation_p.R288K|KCNAB1_ENST00000389636.5_Missense_Mutation_p.R306K	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	335						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAAGAAGGGAGAAAACAGCAA	0.408													13	38					0	0	0	0	A	156241659	G	A	156241659	3	1	331	1	0	0	0	0	1	0	0	0	8062	942	33	2	1521	2	KCNAB1	3	156241659	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	5145743	156241659	41780771	65	61384											
SI	6476	broad.mit.edu	37	chr3	164733747	164733753	+	Frame_Shift_Del	DEL	ATAATGT	ATAATGT	-																															tccaagtactgaccaggataAtaatgtatctcattccttct																										TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:164733747_164733753delATAATGT	ENST00000264382.3	-	32	3937_3943	c.3875_3881delACATTAT	c.(3874-3882)ttfs	p.YII1292fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1292	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GACCAGGATAATAATGTATCTCATTCC	0.386										HNSCC(35;0.089)			9	31	---	---	---	---					-	164733753	ATAATGT	-	164733747	7	5	331	1	0	1	0	1	0	0	0	0	14385	101	4	0	1670	0	SI	3	164733747	Frame_Shift_Del	DEL	ATAATGT	TCGA-CV-A45Q-01A-11D-A24D-08	8492088	164733747	33288683	66	61385											
SI	6476	broad.mit.edu	37	chr3	164741468	164741468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtatttagttggaggtcagCtgttatacccatggatgaat	11	14	11	5	0	1	1	1	1	0	0	1	3	1	3	1	3	2	4	1	3	5	6			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:164741468C>T	ENST00000264382.3	-	26	3051	c.2989G>A	c.(2989-2991)Gct>Act	p.A997T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	997	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGGAGGTCAGCTGTTATACCC	0.403										HNSCC(35;0.089)			8	29					0	0	0	0	T	164741468	C	T	164741468	3	4	331	1	0	0	0	0	1	0	0	0	14385	797	28	4	2586	4	SI	3	164741468	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	7721	164741468	33280962	67	61386											
MYNN	55892	broad.mit.edu	37	chr3	169496746	169496746	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctctgcgagattataataatCgagagaaatcagaagtatct	16	11	8	6	2	3	3	1	0	2	3	4	6	3	3	0	0	1	1	0	0	6	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:169496746C>G	ENST00000349841.5	+	3	1120	c.457C>G	c.(457-459)Cga>Gga	p.R153G	MYNN_ENST00000392733.1_Missense_Mutation_p.R153G|MYNN_ENST00000356716.4_Missense_Mutation_p.R153G|MYNN_ENST00000544106.1_Missense_Mutation_p.R153G|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	153						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TTATAATAATCGAGAGAAATC	0.343													7	16					0	0	0	0	G	169496746	C	G	169496746	3	3	331	1	0	0	0	0	1	0	0	0	10131	876	31	3	463	3	MYNN	3	169496746	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	4755278	169496746	28525684	68	61387											
MCF2L2	23101	broad.mit.edu	37	chr3	183059382	183059382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacttgtctcttcgtctgtcGataacaacaatgaatccaat	12	13	5	11	2	2	1	0	1	2	0	6	2	3	1	1	0	2	0	1	0	5	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:183059382G>A	ENST00000328913.3	-	4	609	c.312C>T	c.(310-312)atC>atT	p.I104I	MCF2L2_ENST00000414362.2_Silent_p.I104I|MCF2L2_ENST00000447025.2_Silent_p.I104I|MCF2L2_ENST00000473233.1_Silent_p.I104I	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	104	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTCGTCTGTCGATAACAACAA	0.423													8	23					0	0	0	0	A	183059382	G	A	183059382	2	1	331	1	0	0	0	0	0	0	0	1	9449	1048	37	1		1	MCF2L2	3	183059382	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	13562636	183059382	14963048	69	61388											
ECE2	9718	broad.mit.edu	37	chr3	184008411	184008411	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgagatcgtcttcccCgctggcatcctgcaggcccc	8	8	10	15	2	1	2	0	1	1	2	4	3	3	2	5	2	1	3	5	2	2	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:184008411C>T	ENST00000402825.3	+	15	2076	c.2076C>T	c.(2074-2076)ccC>ccT	p.P692P	ECE2_ENST00000359140.4_Silent_p.P545P|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Silent_p.P620P|ECE2_ENST00000404464.3_Silent_p.P574P	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	692	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCGTCTTCCCCGCTGGCATCC	0.627													20	87					0	0	0	0	T	184008411	C	T	184008411	2	4	331	1	0	0	0	0	0	0	0	1	4926	639	23	1		1	ECE2	3	184008411	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	949029	184008411	14014019	70	61389											
LPP	4026	broad.mit.edu	37	chr3	188590551	188590551	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcactgctaccgatgcgaGgtctggttgacagccctgcc	6	10	12	13	2	2	1	1	1	1	0	2	3	2	1	3	2	5	3	3	2	1	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:188590551G>A	ENST00000312675.4	+	10	1956	c.1710_splice	c.e10+1	p.E570_splice	LPP_ENST00000543006.1_Splice_Site_p.E570_splice	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	570	LIM zinc-binding 3.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACCGATGCGAGGTCTGGTTGA	0.532			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								11	24					0	0	0	0	A	188590551	G	A	188590551	5	1	331	1	0	0	0	0	0	0	1	0	8987	1014	35	4	1740	4	LPP	3	188590551	Splice_Site	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4582140	188590551	9431879	71	61390											
ATP13A4	84239	broad.mit.edu	37	chr3	193120568	193120568	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatttgccaagtccctcTgccatatccgatactggctt	7	13	8	13	1	2	0	1	0	1	0	4	1	4	0	4	2	3	1	4	2	3	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:193120568T>A	ENST00000342695.4	-	30	3786	c.3464A>T	c.(3463-3465)cAg>cTg	p.Q1155L	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Q1136L|ATP13A4_ENST00000400270.2_Missense_Mutation_p.Q171L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1155					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAAGTCCCTCTGCCATATCCG	0.468													5	38					0	0	0	0	A	193120568	T	A	193120568	3	1	331	1	0	0	0	0	1	0	0	0	1130	1580	55	5	130	5	ATP13A4	3	193120568	Missense_Mutation	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	4530017	193120568	4901862	72	61391											
MUC20	200958	broad.mit.edu	37	chr3	195452896	195452896	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaccacacatcactgaggtCacagcctctgccgagaccct	12	6	7	16	1	3	2	2	1	1	1	3	3	3	2	4	1	3	0	4	1	1	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:195452896C>G	ENST00000320736.6	+	3	1035	c.909C>G	c.(907-909)gtC>gtG	p.V303V	MUC20_ENST00000445522.2_Silent_p.V439V|MUC20_ENST00000436408.1_Silent_p.V474V|MUC20_ENST00000447234.2_Silent_p.V474V	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	474	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCACTGAGGTCACAGCCTCTG	0.602													8	49					0	0	0	0	G	195452896	C	G	195452896	2	3	331	1	0	0	0	0	0	0	0	1	10046	813	29	2		2	MUC20	3	195452896	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2332328	195452896	2569534	73	61392											
SENP5	205564	broad.mit.edu	37	chr3	196650417	196650417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattcattttaagttttgtGtagaggtaagttaatatact	12	18	8	3	0	1	1	1	0	0	1	1	1	1	1	0	1	1	5	0	1	6	10			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr3:196650417G>A	ENST00000323460.5	+	7	2266	c.2017G>A	c.(2017-2019)Gta>Ata	p.V673I	SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Missense_Mutation_p.V163I	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	673	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TAAGTTTTGTGTAGAGGTAAG	0.343													8	25					0	0	0	0	A	196650417	G	A	196650417	3	1	331	1	0	0	0	0	1	0	0	0	14136	1377	48	4	2039	4	SENP5	3	196650417	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	1197521	196650417	1372013	74	61393											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306243	2306243	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggcgcctcctcctgtctCtcaggggccctgtcgctggc	1	9	15	16	2	2	0	1	0	1	0	6	0	4	0	4	5	0	1	4	5	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:2306243C>T	ENST00000290974.2	-	8	2163	c.1824G>A	c.(1822-1824)gaG>gaA	p.E608E	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.E578E|ZFYVE28_ENST00000515312.1_Silent_p.E538E	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	608					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTCCTGTCTCTCAGGGGCCC	0.672													7	41					0	0	0	0	T	2306243	C	T	2306243	2	4	331	1	0	0	0	0	0	0	0	1	17765	912	32	2		2	ZFYVE28	4	2306243	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08		2306243	188848033	75	61394											
NKX3-2	579	broad.mit.edu	37	chr4	13543912	13543912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacgcggccaggtctgcgCgctcgggcccggacaggtag	5	4	18	14	7	1	0	0	0	1	0	2	2	1	1	2	5	1	2	2	5	1	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:13543912C>T	ENST00000382438.5	-	2	1342	c.707G>A	c.(706-708)cGc>cAc	p.R236H		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	236					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CAGGTCTGCGCGCTCGGGCCC	0.652													4	7					0	0	0	0	T	13543912	C	T	13543912	3	4	331	1	0	0	0	0	1	0	0	0	10526	768	27	1	298	1	NKX3-2	4	13543912	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	11237669	13543912	177610364	76	61395											
PCDH7	5099	broad.mit.edu	37	chr4	30724513	30724513	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaagtacttcttgcacacctCgacccctctggactatgagg	10	10	8	13	1	2	1	0	1	2	0	3	3	2	2	3	2	2	2	3	2	3	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:30724513C>G	ENST00000361762.2	+	1	2477	c.1469C>G	c.(1468-1470)tCg>tGg	p.S490W	PCDH7_ENST00000543491.1_Missense_Mutation_p.S490W	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	490	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TTGCACACCTCGACCCCTCTG	0.612													11	34					0	0	0	0	G	30724513	C	G	30724513	3	3	331	1	0	0	0	0	1	0	0	0	11587	893	31	3	1471	3	PCDH7	4	30724513	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	17180601	30724513	160429763	77	61396											
PDGFRA	5156	broad.mit.edu	37	chr4	55133465	55133465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctgtagaaaggcaaaGgcatcacaatgctggaagaa	15	9	11	6	0	1	2	1	0	0	2	1	3	1	3	0	3	2	5	0	3	6	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:55133465G>A	ENST00000257290.5	+	6	1100	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	257	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAAAGGCAAAGGCATCACAAT	0.443			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			15	29					0	0	0	0	A	55133465	G	A	55133465	3	1	331	1	0	0	0	0	1	0	0	0	11732	1000	35	4	787	4	PDGFRA	4	55133465	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	24408952	55133465	136020811	78	61397											
EPHA5	2044	broad.mit.edu	37	chr4	66361138	66361138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtgggtggatcagactctCtcctgaaataatccttttca	9	15	8	9	0	3	2	2	1	1	1	6	3	5	3	2	2	0	0	2	2	2	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:66361138C>G	ENST00000273854.3	-	4	1634	c.1034G>C	c.(1033-1035)aGa>aCa	p.R345T	EPHA5_ENST00000511294.1_Missense_Mutation_p.R345T|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.R345T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	345	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCAGACTCTCTCCTGAAATA	0.473										TSP Lung(17;0.13)			20	73					0	0	0	0	G	66361138	C	G	66361138	3	3	331	1	0	0	0	0	1	0	0	0	5208	913	32	2	2139	2	EPHA5	4	66361138	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	11227673	66361138	124793138	79	61398											
PARM1	25849	broad.mit.edu	37	chr4	75937986	75937986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctcgggcactcctgaagCaggcgtggcagctacactgt	8	7	13	13	2	0	1	0	1	0	0	2	1	1	1	1	3	4	5	1	3	2	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:75937986C>T	ENST00000307428.7	+	2	607	c.395C>T	c.(394-396)gCa>gTa	p.A132V	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	132					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						ACTCCTGAAGCAGGCGTGGCA	0.582													24	101					0	0	0	0	T	75937986	C	T	75937986	3	4	331	1	0	0	0	0	1	0	0	0	11523	710	25	4	401	4	PARM1	4	75937986	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	9576848	75937986	115216290	80	61399											
FAM175A	84142	broad.mit.edu	37	chr4	84391361	84391361	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggccaacatttaccctttTtgaggtttatataaggaatg	11	15	8	7	0	0	1	0	1	0	0	0	2	0	2	2	3	2	1	2	3	6	8			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:84391361T>G	ENST00000321945.7	-	5	579	c.471A>C	c.(469-471)caA>caC	p.Q157H	FAM175A_ENST00000506553.1_Missense_Mutation_p.Q108H|FAM175A_ENST00000505489.1_5'UTR	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	157					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TTTACCCTTTTTGAGGTTTAT	0.318													7	29					0	0	0	0	G	84391361	T	G	84391361	3	3	331	1	0	0	0	0	1	0	0	0	5538	1838	64	5	778	5	FAM175A	4	84391361	Missense_Mutation	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	8453375	84391361	106762915	81	61400											
DSPP	1834	broad.mit.edu	37	chr4	88534203	88534203	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaggaccatgggaaagaaGatgatcatgatagtagcata	16	7	12	6	0	1	4	1	2	0	2	1	6	1	6	2	2	1	2	2	2	5	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:88534203G>C	ENST00000399271.1	+	4	985	c.865G>C	c.(865-867)Gat>Cat	p.D289H	DSPP_ENST00000282478.7_Missense_Mutation_p.D289H|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	289					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.D289Y(2)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TGGGAAAGAAGATGATCATGA	0.428													14	23					0	0	0	0	C	88534203	G	C	88534203	3	2	331	1	0	0	0	0	1	0	0	0	4818	942	33	2	875	2	DSPP	4	88534203	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4142842	88534203	102620073	82	61401											
IL21	59067	broad.mit.edu	37	chr4	123541999	123541999	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacaaatatagtcttacCaagtcattcacataattttt	14	16	4	7	0	3	1	2	1	1	0	3	1	3	1	1	0	1	0	1	0	6	7			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:123541999C>A	ENST00000264497.3	-	1	225	c.168_splice	c.e1+1	p.L56_splice	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	49					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						ATAGTCTTACCAAGTCATTCA	0.313													13	20					1.5842e-08	1.72938e-08	1	0	A	123541999	C	A	123541999	5	1	331	1	0	0	0	0	0	0	1	0	7723	608	21	4	340	4	IL21	4	123541999	Splice_Site	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	35007796	123541999	67612277	83	61402											
ANKRD50	57182	broad.mit.edu	37	chr4	125592865	125592865	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgaatggaatcctctctttCtaaggcttgtcgaactatgc	9	13	8	11	2	2	0	0	0	2	0	5	3	3	1	2	2	2	1	2	2	5	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:125592865C>G	ENST00000504087.1	-	4	2604	c.1567G>C	c.(1567-1569)Gaa>Caa	p.E523Q	ANKRD50_ENST00000515641.1_Missense_Mutation_p.E344Q	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	523										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCCTCTCTTTCTAAGGCTTGT	0.423													14	53					0	0	0	0	G	125592865	C	G	125592865	3	3	331	1	0	0	0	0	1	0	0	0	676	922	32	2	2726	2	ANKRD50	4	125592865	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2050866	125592865	65561411	84	61403											
SMARCA5	8467	broad.mit.edu	37	chr4	144460010	144460010	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagcacgcgtgctggtggTcttggcatcaatcttgcgac	7	12	12	10	3	3	0	1	0	2	0	3	1	3	0	0	3	3	3	0	3	2	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:144460010T>C	ENST00000283131.3	+	13	2151	c.1689T>C	c.(1687-1689)ggT>ggC	p.G563G		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	563	Helicase C-terminal.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GTGCTGGTGGTCTTGGCATCA	0.383													25	51					0	0	0	0	C	144460010	T	C	144460010	2	2	331	1	0	0	0	0	0	0	0	1	14859	1654	58	5		5	SMARCA5	4	144460010	Silent	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	18867145	144460010	46694266	85	61404											
FAM198B	51313	broad.mit.edu	37	chr4	159092224	159092224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtacaccacattgggctgcaGagtggacccattgccctggg	8	8	13	12	0	0	1	0	0	0	1	0	2	0	2	3	3	3	3	3	3	1	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:159092224G>C	ENST00000296530.8	-	2	925	c.304C>G	c.(304-306)Ctg>Gtg	p.L102V	RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.L102V|FAM198B_ENST00000592057.1_Missense_Mutation_p.L102V|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_Missense_Mutation_p.L102V	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	102						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TTGGGCTGCAGAGTGGACCCA	0.622													17	70					0	0	0	0	C	159092224	G	C	159092224	3	2	331	1	0	0	0	0	1	0	0	0	5572	933	33	2	1376	2	FAM198B	4	159092224	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	14632214	159092224	32062052	86	61405											
SORBS2	8470	broad.mit.edu	37	chr4	186544294	186544294	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagcagctcactgatgagGcggtgcaggatgctgttgtc	7	9	16	9	1	1	2	1	2	0	0	2	3	1	3	0	4	4	6	0	4	0	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:186544294G>T	ENST00000431808.1	-	14	2840	c.2277C>A	c.(2275-2277)cgC>cgA	p.R759R	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Silent_p.R663R|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.R859R|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.R759R			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	759						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CACTGATGAGGCGGTGCAGGA	0.572													46	132					1.86277e-20	2.10145e-20	1	0	T	186544294	G	T	186544294	2	4	331	1	0	0	0	0	0	0	0	1	15016	1190	42	4		4	SORBS2	4	186544294	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	27452070	186544294	4609982	87	61406											
FAT1	2195	broad.mit.edu	37	chr4	187542861	187542861	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atactccgcttggttacttcGatctaattctttggcagttt	7	18	7	9	2	2	0	0	0	2	0	4	1	3	0	1	2	2	4	1	2	3	8			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:187542861G>A	ENST00000441802.2	-	10	5088	c.4879C>T	c.(4879-4881)Cga>Tga	p.R1627*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1627	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGTTACTTCGATCTAATTCT	0.368										HNSCC(5;0.00058)			3	11					0	0	0	0	A	187542861	G	A	187542861	4	1	331	1	0	0	0	0	0	1	0	0	5734	1066	37	1	8959	1	FAT1	4	187542861	Nonsense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	998567	187542861	3611415	88	61407											
FAT1	2195	broad.mit.edu	37	chr4	187628110	187628110	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatctcacctgaccagactGacctaaatcaggatcgtggg	11	9	10	11	1	2	3	2	2	1	1	4	4	2	4	3	2	0	1	3	2	3	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr4:187628110G>A	ENST00000441802.2	-	2	3081	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	958	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGACCAGACTGACCTAAATCA	0.473										HNSCC(5;0.00058)			26	67					0	0	0	0	A	187628110	G	A	187628110	4	1	331	1	0	0	0	0	0	1	0	0	5734	1299	45	2	10998	2	FAT1	4	187628110	Nonsense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	85249	187628110	3526166	89	61408											
SLC9A3	6550	broad.mit.edu	37	chr5	475148	475148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcgtgcgggccctctgcGaggggaccaccgtctccccg	3	7	14	17	5	3	0	0	0	3	0	4	2	3	1	5	3	3	0	5	3	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:475148G>A	ENST00000264938.3	-	16	2360	c.2351C>T	c.(2350-2352)tCg>tTg	p.S784L	SLC9A3_ENST00000514375.1_Missense_Mutation_p.S775L|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	784						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCCCTCTGCGAGGGGACCAC	0.672													6	19					0	0	0	0	A	475148	G	A	475148	3	1	331	1	0	0	0	0	1	0	0	0	14801	1059	37	1	161	1	SLC9A3	5	475148	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08		475148	180440112	90	61409											
OSMR	9180	broad.mit.edu	37	chr5	38886310	38886310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgagactagagttgtcAcagcccaccgtggccactaa	11	7	12	11	1	1	2	1	1	0	2	1	4	1	2	3	2	1	1	3	2	2	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:38886310A>G	ENST00000502536.1	+	7	1291	c.1009A>G	c.(1009-1011)Aca>Gca	p.T337A	OSMR_ENST00000274276.3_Intron	NM_001168355.1	NP_001161827.1	Q99650	OSMR_HUMAN	oncostatin M receptor	0	Fibronectin type-III 1.				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)					TAGAGTTGTCACAGCCCACCG	0.423													11	38					0	0	0	0	G	38886310	A	G	38886310	3	3	331	1	0	0	0	0	1	0	0	0	11363	159	6	5	1031	5	OSMR	5	38886310	Missense_Mutation	SNP	A	TCGA-CV-A45Q-01A-11D-A24D-08	38411162	38886310	142028950	91	61410											
IL6ST	3572	broad.mit.edu	37	chr5	55237392	55237392	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgtgtaccacggtagaatActggacagtgctcgaagtgt	11	10	12	8	2	0	1	0	0	0	1	1	3	0	2	1	2	3	3	1	2	5	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:55237392A>G	ENST00000381298.2	-	17	2587	c.2275T>C	c.(2275-2277)Tat>Cat	p.Y759H	IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.Y698H|IL6ST_ENST00000336909.5_Missense_Mutation_p.Y759H|IL6ST_ENST00000502326.3_Missense_Mutation_p.Y759H|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000536319.1_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	759					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ACGGTAGAATACTGGACAGTG	0.478			O		hepatocellular ca								19	53					0	0	0	0	G	55237392	A	G	55237392	3	3	331	1	0	0	0	0	1	0	0	0	7756	391	14	5	485	5	IL6ST	5	55237392	Missense_Mutation	SNP	A	TCGA-CV-A45Q-01A-11D-A24D-08	16351082	55237392	125677868	92	61411											
PDE4D	5144	broad.mit.edu	37	chr5	58652626	58652626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttgatttggctcttgtaGatggtcctggcaccgtggct	5	15	12	9	1	2	2	0	1	2	1	3	2	3	2	2	4	0	4	2	4	1	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:58652626G>A	ENST00000405755.2	-	1	175	c.47C>T	c.(46-48)tCt>tTt	p.S16F	PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000502575.1_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000360047.5_Intron|PDE4D_ENST00000507116.1_Intron	NM_001197219.1	NP_001184148.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GGCTCTTGTAGATGGTCCTGG	0.478													3	12					0	0	0	0	A	58652626	G	A	58652626	3	1	331	1	0	0	0	0	1	0	0	0	11713	957	33	2		2	PDE4D	5	58652626	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	3415234	58652626	122262634	93	61412											
F2R	2149	broad.mit.edu	37	chr5	76028613	76028613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attttactgtaacatgtacgCctctatcttgctcatgacag	10	15	6	10	1	3	1	1	1	2	0	3	1	3	1	1	0	4	3	1	0	4	6			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:76028613C>T	ENST00000319211.4	+	2	828	c.563C>T	c.(562-564)gCc>gTc	p.A188V		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	188					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AACATGTACGCCTCTATCTTG	0.493													48	90					0	0	0	0	T	76028613	C	T	76028613	3	4	331	1	0	0	0	0	1	0	0	0	5381	739	26	4	569	4	F2R	5	76028613	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	17375987	76028613	104886647	94	61413											
VCAN	1462	broad.mit.edu	37	chr5	82815925	82815925	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagaagacttggagtcagtCtcagcatccacaactgtttc	11	12	8	10	0	2	2	2	0	1	2	5	3	3	3	1	1	2	2	1	1	3	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:82815925C>G	ENST00000265077.3	+	7	2365	c.1800C>G	c.(1798-1800)gtC>gtG	p.V600V	VCAN_ENST00000512590.2_Silent_p.V552V|VCAN_ENST00000342785.4_Silent_p.V600V|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	600	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGGAGTCAGTCTCAGCATCCA	0.423													22	48					0	0	0	0	G	82815925	C	G	82815925	2	3	331	1	0	0	0	0	0	0	0	1	17234	900	32	2		2	VCAN	5	82815925	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	6787312	82815925	98099335	95	61414											
VCAN	1462	broad.mit.edu	37	chr5	82816280	82816280	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatgggaaaaacagaagaaGaagtcttctctgggatgaaa	17	9	11	4	0	2	4	0	1	2	3	3	6	2	6	0	2	1	0	0	2	7	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:82816280G>C	ENST00000265077.3	+	7	2720	c.2155G>C	c.(2155-2157)Gaa>Caa	p.E719Q	VCAN_ENST00000512590.2_Missense_Mutation_p.E671Q|VCAN_ENST00000342785.4_Missense_Mutation_p.E719Q|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	719	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACAGAAGAAGAAGTCTTCTC	0.363													8	14					0	0	0	0	C	82816280	G	C	82816280	3	2	331	1	0	0	0	0	1	0	0	0	17234	943	33	2	2177	2	VCAN	5	82816280	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	355	82816280	98098980	96	61415											
FTMT	94033	broad.mit.edu	37	chr5	121187842	121187842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggaccctaccgggcccGccgccggcccctctcgggtg	2	4	14	21	6	1	0	0	0	1	0	2	1	1	1	8	4	1	0	8	4	1	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:121187842G>A	ENST00000321339.1	+	1	193	c.184G>A	c.(184-186)Gcc>Acc	p.A62T		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	62					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TACCGGGCCCGCCGCCGGCCC	0.736													8	19					0	0	0	0	A	121187842	G	A	121187842	3	1	331	1	0	0	0	0	1	0	0	0	6133	1087	38	1	186	1	FTMT	5	121187842	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	38371562	121187842	59727418	97	61416											
CDC25C	995	broad.mit.edu	37	chr5	137654985	137654985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggtcttctcctaggtttgGatttttatccaattttggaa	7	19	8	7	0	2	0	0	0	2	0	4	2	3	2	2	4	0	1	2	4	4	8			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:137654985G>A	ENST00000323760.6	-	7	816	c.538C>T	c.(538-540)Cca>Tca	p.P180S	CDC25C_ENST00000514555.1_Missense_Mutation_p.P150S|CDC25C_ENST00000513970.1_Missense_Mutation_p.P180S|CDC25C_ENST00000415130.2_Missense_Mutation_p.P107S|CDC25C_ENST00000357274.3_Missense_Mutation_p.P137S|CDC25C_ENST00000356505.3_Missense_Mutation_p.P150S|CDC25C_ENST00000348983.3_Missense_Mutation_p.P107S	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	180					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTAGGTTTGGATTTTTATCC	0.378													6	17					0	0	0	0	A	137654985	G	A	137654985	3	1	331	1	0	0	0	0	1	0	0	0	3093	1174	41	2	915	2	CDC25C	5	137654985	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	16467143	137654985	43260275	98	61417											
ABLIM3	22885	broad.mit.edu	37	chr5	148577791	148577791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccccaagtatgtggctGtggcctggcccagtcaggct	5	11	13	12	0	1	0	1	0	0	0	2	0	2	0	4	4	0	4	4	4	2	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:148577791G>A	ENST00000506113.1	+	3	643	c.161G>A	c.(160-162)tGt>tAt	p.C54Y	RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.C54Y|ABLIM3_ENST00000504238.1_Missense_Mutation_p.C54Y|ABLIM3_ENST00000309868.7_Missense_Mutation_p.C54Y|ABLIM3_ENST00000356541.3_Missense_Mutation_p.C54Y|ABLIM3_ENST00000508983.1_Missense_Mutation_p.C54Y|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	54	LIM zinc-binding 1.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATGTGGCTGTGGCCTGGCC	0.577													28	52					0	0	0	0	A	148577791	G	A	148577791	3	1	331	1	0	0	0	0	1	0	0	0	96	1377	48	4	171	4	ABLIM3	5	148577791	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	10922806	148577791	32337469	99	61418											
GRIA1	2890	broad.mit.edu	37	chr5	152873564	152873564	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgcaactcacagagcccccGaagctgctcccccagattga	10	6	8	17	2	1	3	1	1	0	2	3	4	2	3	4	0	4	3	4	0	2	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:152873564G>A	ENST00000285900.5	+	2	502	c.159G>A	c.(157-159)ccG>ccA	p.P53P	GRIA1_ENST00000448073.4_Silent_p.P63P|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518142.1_Silent_p.P53P|GRIA1_ENST00000518783.1_Silent_p.P63P|GRIA1_ENST00000521843.2_5'UTR|GRIA1_ENST00000340592.5_Silent_p.P53P	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	53					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGAGCCCCCGAAGCTGCTCC	0.433													12	48					0	0	0	0	A	152873564	G	A	152873564	2	1	331	1	0	0	0	0	0	0	0	1	6817	1045	37	1		1	GRIA1	5	152873564	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4295773	152873564	28041696	100	61419											
KIF4B	285643	broad.mit.edu	37	chr5	154395530	154395530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtgctcagacgtaaaaCggaagaggcagcagctgcca	13	5	13	10	2	1	2	1	0	0	2	1	3	1	3	1	2	5	5	1	2	3	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:154395530C>T	ENST00000435029.4	+	1	2271	c.2111C>T	c.(2110-2112)aCg>aTg	p.T704M		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	704	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGACGTAAAACGGAAGAGGCA	0.463													13	50					0	0	0	0	T	154395530	C	T	154395530	3	4	331	1	0	0	0	0	1	0	0	0	8355	536	19	1	2113	1	KIF4B	5	154395530	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	1521966	154395530	26519730	101	61420											
C5orf54	63920	broad.mit.edu	37	chr5	159821580	159821580	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaaataggcgatgattTggagctctccctttgatgaa	10	12	11	8	1	1	4	0	4	1	0	2	6	1	5	2	2	1	1	2	2	3	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:159821580T>G	ENST00000408953.3	-	2	1425	c.918A>C	c.(916-918)ccA>ccC	p.P306P	C5orf54_ENST00000523213.1_Silent_p.P306P	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	306										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ggcgatgatttggagctctcc	0.413													11	43					0	0	0	0	G	159821580	T	G	159821580	2	3	331	1	0	0	0	0	0	0	0	1	2331	1799	63	5		5	C5orf54	5	159821580	Silent	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	5426050	159821580	21093680	102	61421											
ZNF354C	30832	broad.mit.edu	37	chr5	178506330	178506330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcatactggagagaaaccGtatcgatgtagggaatgtgg	12	9	15	5	2	0	1	0	0	0	1	1	5	0	3	1	3	3	3	1	3	5	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:178506330G>A	ENST00000315475.6	+	5	1203	c.897G>A	c.(895-897)ccG>ccA	p.P299P		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GAGAGAAACCGTATCGATGTA	0.413													19	58					0	0	0	0	A	178506330	G	A	178506330	2	1	331	1	0	0	0	0	0	0	0	1	17961	1132	40	1		1	ZNF354C	5	178506330	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	18684750	178506330	2408930	103	61422											
BTNL9	153579	broad.mit.edu	37	chr5	180486626	180486626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctggactacgaggccGgagagctgtccttcttcaac	7	11	10	13	2	3	1	1	0	2	1	5	4	5	2	3	3	3	1	3	3	2	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr5:180486626G>A	ENST00000327705.9	+	11	1603	c.1372G>A	c.(1372-1374)Gga>Aga	p.G458R	BTNL9_ENST00000376842.3_Missense_Mutation_p.G459R	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	458	B30.2/SPRY.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACGAGGCCGGAGAGCTGTC	0.682													10	37					0	0	0	0	A	180486626	G	A	180486626	3	1	331	1	0	0	0	0	1	0	0	0	1577	1117	39	1	1410	1	BTNL9	5	180486626	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	1980296	180486626	428634	104	61423											
NKAPL	222698	broad.mit.edu	37	chr6	28228044	28228044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctttgaagtatggccatGctttgcttcccggtgaaggt	8	13	11	9	1	0	2	0	2	0	0	1	2	1	2	3	3	3	3	3	3	4	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:28228044G>A	ENST00000343684.3	+	1	947	c.895G>A	c.(895-897)Gct>Act	p.A299T		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	299										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTATGGCCATGCTTTGCTTCC	0.453													13	44					0	0	0	0	A	28228044	G	A	28228044	3	1	331	1	0	0	0	0	1	0	0	0	10510	1319	46	4	897	4	NKAPL	6	28228044	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08		28228044	142887023	105	61424											
HLA-F	3134	broad.mit.edu	37	chr6	29691994	29691994	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atggctgcgacatggggcccGacggacgcctcctccgcggg	5	5	16	15	6	0	0	0	0	0	0	2	3	2	1	4	5	1	1	4	5	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:29691994G>C	ENST00000440587.2	+	3	384	c.25G>C	c.(25-27)Gac>Cac	p.D9H	HLA-F_ENST00000434407.2_Missense_Mutation_p.D127H|HLA-F_ENST00000259951.7_Missense_Mutation_p.D127H|HLA-F_ENST00000334668.4_Missense_Mutation_p.D127H|HLA-F_ENST00000376861.1_Missense_Mutation_p.D127H			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	127					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CATGGGGCCCGACGGACGCCT	0.692													11	65					0	0	0	0	C	29691994	G	C	29691994	3	2	331	1	0	0	0	0	1	0	0	0	7261	1058	37	3	389	3	HLA-F	6	29691994	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	1463950	29691994	141423073	106	61425											
PHF1	5252	broad.mit.edu	37	chr6	33380521	33380521	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttgtgtctgtcgctctgaGactgtggtccctgggaaccg	4	13	14	10	2	2	1	0	1	2	1	4	3	3	2	2	2	1	2	2	2	1	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:33380521G>C	ENST00000374516.3	+	4	559	c.288G>C	c.(286-288)gaG>gaC	p.E96D	PHF1_ENST00000374512.3_Missense_Mutation_p.E96D|PHF1_ENST00000459809.1_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	96					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GTCGCTCTGAGACTGTGGTCC	0.582													13	60					0	0	0	0	C	33380521	G	C	33380521	3	2	331	1	0	0	0	0	1	0	0	0	11892	933	33	2	298	2	PHF1	6	33380521	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	3688527	33380521	137734546	107	61426											
CUL7	9820	broad.mit.edu	37	chr6	43014265	43014265	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaccctggcacaggtatctGaggaacacatcaaagaaagg	16	5	11	9	0	2	2	1	1	1	1	2	4	2	3	1	4	2	2	1	4	5	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:43014265G>C	ENST00000535468.1	-	11	2810	c.2724C>G	c.(2722-2724)ctC>ctG	p.L908L	CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000265348.3_Silent_p.L824L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	824	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACAGGTATCTGAGGAACACAT	0.557													7	26					0	0	0	0	C	43014265	G	C	43014265	2	2	331	1	0	0	0	0	0	0	0	1	4092	1277	45	2		2	CUL7	6	43014265	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	9633744	43014265	128100802	108	61427											
GSTA2	2939	broad.mit.edu	37	chr6	52622709	52622709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggactccattctgccccGtatattggagtagtggagct	8	12	12	9	1	1	0	0	0	1	0	2	4	2	3	3	3	2	3	3	3	3	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:52622709G>A	ENST00000493422.1	-	2	192	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	13	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	ATTCTGCCCCGTATATTGGAG	0.468													17	31					0	0	0	0	A	52622709	G	A	52622709	3	1	331	1	0	0	0	0	1	0	0	0	6881	1144	40	1	655	1	GSTA2	6	52622709	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	9608444	52622709	118492358	109	61428											
LGSN	51557	broad.mit.edu	37	chr6	63990433	63990433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtcctgccaaccattttttCccagtgatcgtgagctgctc	7	13	8	13	1	0	2	0	2	0	0	4	2	2	2	4	0	4	2	4	0	1	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:63990433C>T	ENST00000370658.5	-	5	635	c.602G>A	c.(601-603)gGa>gAa	p.G201E	LGSN_ENST00000370657.4_Silent_p.G341G	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	0					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.G341G(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACCATTTTTTCCCAGTGATCG	0.488													13	53					0	0	0	0	T	63990433	C	T	63990433	3	4	331	1	0	0	0	0	1	0	0	0	8813	855	30	2	510	2	LGSN	6	63990433	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	11367724	63990433	107124634	110	61429											
PHF3	23469	broad.mit.edu	37	chr6	64415949	64415949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accacctgtagatgatctttCtccaaaaaaagtaaaagttg	16	11	6	8	0	2	2	0	1	2	1	3	2	2	2	3	0	0	3	3	0	6	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:64415949C>G	ENST00000262043.3	+	12	3738	c.3398C>G	c.(3397-3399)tCt>tGt	p.S1133C	PHF3_ENST00000393387.1_Missense_Mutation_p.S1133C			Q92576	PHF3_HUMAN	PHD finger protein 3	1133					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GATGATCTTTCTCCAAAAAAA	0.353													9	10					0	0	0	0	G	64415949	C	G	64415949	3	3	331	1	0	0	0	0	1	0	0	0	11908	913	32	2	3440	2	PHF3	6	64415949	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	425516	64415949	106699118	111	61430											
RIMS1	22999	broad.mit.edu	37	chr6	73016982	73016982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcttagtagtggaggagcGaacaagacagatgaaaatga	18	6	13	4	1	0	4	0	2	0	2	0	7	0	6	0	2	3	2	0	2	7	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:73016982G>A	ENST00000264839.7	+	23	3419	c.3419G>A	c.(3418-3420)cGa>cAa	p.R1140Q	RIMS1_ENST00000538414.1_Missense_Mutation_p.R97Q|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1083Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1083Q|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1291Q|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1114Q|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.R611Q|RIMS1_ENST00000517827.1_Intron			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1291					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)				GTGGAGGAGCGAACAAGACAG	0.383													3	7					0	0	0	0	A	73016982	G	A	73016982	3	1	331	1	0	0	0	0	1	0	0	0	13452	1058	37	1	4141	1	RIMS1	6	73016982	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	8601033	73016982	98098085	112	61431											
ESR1	2099	broad.mit.edu	37	chr6	152265497	152265497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggccgaccagatggtcaGtgccttgttggatgctgagc	7	9	15	10	2	1	2	1	1	0	1	1	5	1	3	3	3	3	2	3	3	0	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:152265497G>T	ENST00000440973.1	+	6	1320	c.950G>T	c.(949-951)aGt>aTt	p.S317I	ESR1_ENST00000338799.5_Missense_Mutation_p.S317I|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000206249.3_Missense_Mutation_p.S317I|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000443427.1_Missense_Mutation_p.S317I|ESR1_ENST00000544394.1_Missense_Mutation_p.S144I	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	317	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CAGATGGTCAGTGCCTTGTTG	0.547													16	51					4.14922e-12	4.60393e-12	1	0	T	152265497	G	T	152265497	3	4	331	1	0	0	0	0	1	0	0	0	5294	1029	36	4	964	4	ESR1	6	152265497	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	79248515	152265497	18849570	113	61432											
SYNE1	23345	broad.mit.edu	37	chr6	152461273	152461273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcaatgcctgggcctggaGaagctcccatcggtcaatca	9	8	11	13	1	3	1	3	0	0	1	5	2	4	1	3	3	2	2	3	3	3	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr6:152461273G>A	ENST00000367255.5	-	140	25871	c.25270C>T	c.(25270-25272)Ctc>Ttc	p.L8424F	SYNE1_ENST00000354674.4_Missense_Mutation_p.L602F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L8036F|SYNE1_ENST00000539504.1_Missense_Mutation_p.L579F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L8376F|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2948F|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.L8424F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L8376F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8424					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGGCCTGGAGAAGCTCCCAT	0.478										HNSCC(10;0.0054)			18	49					0	0	0	0	A	152461273	G	A	152461273	3	1	331	1	0	0	0	0	1	0	0	0	15536	942	33	2	1151	2	SYNE1	6	152461273	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	195776	152461273	18653794	114	61433											
RBAK	57786	broad.mit.edu	37	chr7	5105180	5105180	+	Frame_Shift_Del	DEL	A	A	-																															atcagccttcaatagccatcAgagaattcatagaagaggaa																										TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:5105180delA	ENST00000396912.1	+	5	2612	c.2093delA	c.(2092-2094)cgfs	p.Q698fs	RBAK_ENST00000353796.3_Frame_Shift_Del_p.Q698fs|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	698	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AATAGCCATCAGAGAATTCAT	0.368													13	31	---	---	---	---					-	5105180	A	-	5105180	7	5	331	1	0	1	0	1	0	0	0	0	13182	188	7	0	2107	0	RBAK	7	5105180	Frame_Shift_Del	DEL	A	TCGA-CV-A45Q-01A-11D-A24D-08		5105180	154033483	115	61434											
SBDS	51119	broad.mit.edu	37	chr7	66459213	66459213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccacctgcttacagatttCagtttggtcatctgttccaa	9	14	6	12	0	3	1	2	0	1	1	4	1	4	1	3	1	2	3	3	1	2	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:66459213C>G	ENST00000246868.2	-	2	427	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	82					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TTACAGATTTCAGTTTGGTCA	0.383			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome				12	39					0	0	0	0	G	66459213	C	G	66459213	3	3	331	1	0	0	0	0	1	0	0	0	13943	835	29	2	524	2	SBDS	7	66459213	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	61354033	66459213	92679450	116	61435											
POM121	9883	broad.mit.edu	37	chr7	72413639	72413639	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctttggcggtgccacgcactCggcgtttgggttgaaagcca	6	10	14	11	4	0	1	0	1	0	0	1	1	0	1	2	4	2	3	2	4	1	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:72413639C>G	ENST00000395270.1	+	14	3353	c.2312C>G	c.(2311-2313)tCg>tGg	p.S771W	POM121_ENST00000257622.4_Missense_Mutation_p.S771W|POM121_ENST00000358357.3_Missense_Mutation_p.S771W|POM121_ENST00000434423.2_Missense_Mutation_p.S1036W|POM121_ENST00000446813.1_Missense_Mutation_p.S771W	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1036	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCCACGCACTCGGCGTTTGGG	0.652													21	62					0	0	0	0	G	72413639	C	G	72413639	3	3	331	1	0	0	0	0	1	0	0	0	12311	893	31	3	2350	3	POM121	7	72413639	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	5954426	72413639	86725024	117	61436											
PCLO	27445	broad.mit.edu	37	chr7	82581589	82581589	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatccactacttccccatCagtgattccctgggatacgg	9	10	9	13	1	1	2	1	1	0	1	4	4	4	3	4	2	2	0	4	2	2	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:82581589C>G	ENST00000423517.2	-	5	9017	c.8680G>C	c.(8680-8682)Gat>Cat	p.D2894H	PCLO_ENST00000333891.8_Missense_Mutation_p.D2894H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2825					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTCCCCATCAGTGATTCCC	0.443													18	44					0	0	0	0	G	82581589	C	G	82581589	3	3	331	1	0	0	0	0	1	0	0	0	11654	826	29	2	6849	2	PCLO	7	82581589	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	10167950	82581589	76557074	118	61437											
ABCB1	5243	broad.mit.edu	37	chr7	87180046	87180046	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaactcagacttacattatCaattatcttgaagatttcat	14	15	3	9	0	4	3	3	1	1	2	4	3	4	3	1	0	2	0	1	0	6	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:87180046C>G	ENST00000265724.3	-	11	1525	c.1108G>C	c.(1108-1110)Gat>Cat	p.D370H	ABCB1_ENST00000543898.1_Missense_Mutation_p.D306H	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	370					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTTACATTATCAATTATCTTG	0.373													4	10					0	0	0	0	G	87180046	C	G	87180046	3	3	331	1	0	0	0	0	1	0	0	0	40	826	29	2	2810	2	ABCB1	7	87180046	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	4598457	87180046	71958617	119	61438											
ZAN	7455	broad.mit.edu	37	chr7	100350536	100350536	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccactgaagagactaccatCtccacagaaaaactcaccat	16	6	4	15	0	2	3	1	1	1	2	3	4	2	3	4	0	2	0	4	0	4	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:100350536C>T	ENST00000542585.1	+	0	2956				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGACTACCATCTCCACAGAAA	0.507													25	74					0	0	0	0	T	100350536	C	T	100350536	1	4	331	0	1	0	0	0	0	0	0	0	17609	903	32	2		2	ZAN	7	100350536	RNA	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	13170490	100350536	58788127	120	61439											
SLC26A5	375611	broad.mit.edu	37	chr7	103029457	103029457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaatctgggcactcacctCtgtgttctgtaaatcacagt	9	13	7	12	0	5	0	2	0	3	0	6	0	6	0	2	1	0	3	2	1	3	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:103029457C>G	ENST00000306312.3	-	14	1773	c.1512G>C	c.(1510-1512)caG>caC	p.Q504H	SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393727.1_Missense_Mutation_p.Q504H|SLC26A5_ENST00000393735.2_Missense_Mutation_p.Q504H|SLC26A5_ENST00000393723.1_Missense_Mutation_p.Q472H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.Q504H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.Q467H|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.Q472H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.Q472H	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	504					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCACTCACCTCTGTGTTCTGT	0.468													8	27					0	0	0	0	G	103029457	C	G	103029457	3	3	331	1	0	0	0	0	1	0	0	0	14608	912	32	2	791	2	SLC26A5	7	103029457	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2678921	103029457	56109206	121	61440											
LAMB1	3912	broad.mit.edu	37	chr7	107626633	107626633	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaaacctctccttcagttGagggttcaatgtcagaatat	13	12	7	9	0	4	2	3	1	1	1	5	2	4	2	2	1	2	2	2	1	5	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:107626633G>C	ENST00000393561.1	-	4	855	c.671C>G	c.(670-672)tCa>tGa	p.S224*	LAMB1_ENST00000222399.6_Nonsense_Mutation_p.S200*|LAMB1_ENST00000393560.1_Nonsense_Mutation_p.S200*			P07942	LAMB1_HUMAN	laminin, beta 1	200	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTTCAGTTGAGGGTTCAAT	0.383													11	32					0	0	0	0	C	107626633	G	C	107626633	4	2	331	1	0	0	0	0	0	1	0	0	8663	1294	45	2	4877	2	LAMB1	7	107626633	Nonsense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4597176	107626633	51512030	122	61441											
PLXNA4	91584	broad.mit.edu	37	chr7	131925848	131925848	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcagcacacaccagccAcagtgggggtcgcctgagcc	8	6	13	14	1	0	1	0	1	0	0	1	1	0	1	4	2	4	2	4	2	0	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:131925848A>G	ENST00000359827.3	-	5	2543	c.1581T>C	c.(1579-1581)tgT>tgC	p.C527C	PLXNA4_ENST00000321063.4_Silent_p.C527C			Q9HCM2	PLXA4_HUMAN	plexin A4	527	PSI 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACACCAGCCACAGTGGGGGT	0.592													8	15					0	0	0	0	G	131925848	A	G	131925848	2	3	331	1	0	0	0	0	0	0	0	1	12194	157	6	5		5	PLXNA4	7	131925848	Silent	SNP	A	TCGA-CV-A45Q-01A-11D-A24D-08	24299215	131925848	27212815	123	61442											
CNTNAP2	26047	broad.mit.edu	37	chr7	146818173	146818173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcattgagcgccaggggcGgagcattaacctcactctgg	8	8	14	11	2	3	1	2	1	1	0	3	2	3	2	2	5	3	1	2	5	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:146818173G>A	ENST00000361727.3	+	6	1373	c.857G>A	c.(856-858)cGg>cAg	p.R286Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	286	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGCCAGGGGCGGAGCATTAAC	0.527										HNSCC(39;0.1)			10	31					0	0	0	0	A	146818173	G	A	146818173	3	1	331	1	0	0	0	0	1	0	0	0	3677	1116	39	1	879	1	CNTNAP2	7	146818173	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	14892325	146818173	12320490	124	61443											
CUL1	8454	broad.mit.edu	37	chr7	148496405	148496405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagatgaggaaggttctGaaacaccagcagttacttgg	14	9	12	6	0	1	4	0	3	1	1	1	5	1	5	1	3	3	3	1	3	4	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:148496405G>A	ENST00000325222.4	+	21	2454	c.2175G>A	c.(2173-2175)ctG>ctA	p.L725L	CUL1_ENST00000602748.1_Silent_p.L725L|CUL1_ENST00000409469.1_Silent_p.L725L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	725					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGAAGGTTCTGAAACACCAGC	0.458													10	20					0	0	0	0	A	148496405	G	A	148496405	2	1	331	1	0	0	0	0	0	0	0	1	4086	1277	45	2		2	CUL1	7	148496405	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	1678232	148496405	10642258	125	61444											
ABCB8	11194	broad.mit.edu	37	chr7	150730891	150730891	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggccctgtgtgaggcaGaagaggcccctcctgccagc	6	8	14	13	0	0	3	0	1	0	2	1	3	1	3	5	3	2	1	5	3	1	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr7:150730891G>T	ENST00000358849.4	+	2	388	c.295G>T	c.(295-297)Gaa>Taa	p.E99*	ABCB8_ENST00000498578.1_Nonsense_Mutation_p.E99*|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000297504.6_Nonsense_Mutation_p.E116*|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000477092.1_Nonsense_Mutation_p.E99*|ABCB8_ENST00000356058.4_Nonsense_Mutation_p.E136*|ABCB8_ENST00000477719.1_Nonsense_Mutation_p.E99*	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	116						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGTGAGGCAGAAGAGGCCCC	0.632													13	49					2.31682e-05	2.47576e-05	1	0	T	150730891	G	T	150730891	4	4	331	1	0	0	0	0	0	1	0	0	47	943	33	2	301	2	ABCB8	7	150730891	Nonsense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	2234486	150730891	8407772	126	61445											
NEFM	4741	broad.mit.edu	37	chr8	24775313	24775313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgtgcccaagtcaccagtgGaagagaaaggcaagtctcct	12	7	11	11	0	2	1	1	0	1	1	3	3	2	2	3	2	1	1	3	2	4	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:24775313G>A	ENST00000221166.5	+	3	2727	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	NEFM_ENST00000437366.2_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.E273K|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	649	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTCACCAGTGGAAGAGAAAGG	0.502													18	76					0	0	0	0	A	24775313	G	A	24775313	3	1	331	1	0	0	0	0	1	0	0	0	10386	1175	41	2	1955	2	NEFM	8	24775313	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08		24775313	121588709	127	61446											
PNMA2	10687	broad.mit.edu	37	chr8	26366052	26366052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgggaatggccgagacatCagtatcttccagaagctcta	12	9	10	10	1	3	2	1	0	2	2	4	4	4	3	2	2	1	2	2	2	4	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:26366052C>T	ENST00000522362.2	-	3	1114	c.220G>A	c.(220-222)Gat>Aat	p.D74N		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	74					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gccgagacatcagtatcttcc	0.478													9	52					0	0	0	0	T	26366052	C	T	26366052	3	4	331	1	0	0	0	0	1	0	0	0	12226	826	29	2	878	2	PNMA2	8	26366052	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	1590739	26366052	119997970	128	61447											
WRN	7486	broad.mit.edu	37	chr8	30924631	30924631	+	Frame_Shift_Del	DEL	G	G	-																															cctgaaagacaagtctatccGctgtagcaattggagtaaat																										TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:30924631delG	ENST00000298139.5	+	6	836	c.587delG	c.(586-588)ccfs	p.R196fs		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	196	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAGTCTATCCGCTGTAGCAAT	0.413			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				8	13	---	---	---	---					-	30924631	G	-	30924631	7	5	331	1	0	1	0	1	0	0	0	0	17498	1087	38	0	605	0	WRN	8	30924631	Frame_Shift_Del	DEL	G	TCGA-CV-A45Q-01A-11D-A24D-08	4558579	30924631	115439391	129	61448											
MMP16	4325	broad.mit.edu	37	chr8	89180146	89180146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccacacatcaaaggcaCggcgaatagctttacgagtc	12	8	9	12	3	2	0	1	0	1	0	3	2	2	0	1	2	3	2	1	2	4	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:89180146C>T	ENST00000286614.6	-	4	742	c.461G>A	c.(460-462)cGt>cAt	p.R154H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	154					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATCAAAGGCACGGCGAATAGC	0.368													4	18					0	0	0	0	T	89180146	C	T	89180146	3	4	331	1	0	0	0	0	1	0	0	0	9724	536	19	1	1546	1	MMP16	8	89180146	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	58255515	89180146	57183876	130	61449											
UBR5	51366	broad.mit.edu	37	chr8	103359282	103359282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgatgacctaccagaggatCctccaccacttccacccact	10	8	5	18	0	0	3	0	2	0	1	3	4	3	4	7	1	1	0	7	1	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:103359282C>T	ENST00000520539.1	-	6	1031	c.425G>A	c.(424-426)gGa>gAa	p.G142E	UBR5_ENST00000521922.1_Missense_Mutation_p.G142E|UBR5_ENST00000220959.4_Missense_Mutation_p.G142E	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	142					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACCAGAGGATCCTCCACCACT	0.488													36	99					0	0	0	0	T	103359282	C	T	103359282	3	4	331	1	0	0	0	0	1	0	0	0	17001	855	30	2	8190	2	UBR5	8	103359282	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	14179136	103359282	43004740	131	61450											
AZIN1	51582	broad.mit.edu	37	chr8	103851015	103851015	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttcttcaattcaatttCattgtcacatgtcaggatat	12	18	4	7	0	6	0	5	0	1	0	6	1	6	1	0	1	0	0	0	1	4	7			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:103851015C>A	ENST00000337198.5	-	5	1569	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	AZIN1_ENST00000347770.4_Nonsense_Mutation_p.E136*|AZIN1_ENST00000522311.1_5'UTR	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	136					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			AATTCAATTTCATTGTCACAT	0.338													3	8					0.004672	0.00481466	1	0	A	103851015	C	A	103851015	4	1	331	1	0	0	0	0	0	1	0	0	1246	835	29	2	972	2	AZIN1	8	103851015	Nonsense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	491733	103851015	42513007	132	61451											
KCNK9	51305	broad.mit.edu	37	chr8	140631260	140631260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctctggaacatgacCagtgtcagcgggatgcccag	9	6	13	13	1	2	1	1	1	1	0	2	3	2	3	3	3	3	1	3	3	1	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr8:140631260C>T	ENST00000520439.1	-	2	429	c.366G>A	c.(364-366)ctG>ctA	p.L122L	KCNK9_ENST00000303015.1_Silent_p.L122L			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	122						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGAACATGACCAGTGTCAGCG	0.597													5	33					0	0	0	0	T	140631260	C	T	140631260	2	4	331	1	0	0	0	0	0	0	0	1	8125	581	21	4		4	KCNK9	8	140631260	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	36780245	140631260	5732762	133	61452											
SMARCA2	6595	broad.mit.edu	37	chr9	2192726	2192726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcagaaggaagtgggaCggatgatgagtgatcagtat	14	8	15	4	1	2	4	2	3	0	1	2	7	2	7	0	3	0	1	0	3	3	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:2192726C>T	ENST00000382203.1	+	34	4969	c.4760C>T	c.(4759-4761)aCg>aTg	p.T1587M	SMARCA2_ENST00000324954.5_Missense_Mutation_p.T233M|SMARCA2_ENST00000382186.1_Missense_Mutation_p.T251M|SMARCA2_ENST00000382185.1_Missense_Mutation_p.T233M|SMARCA2_ENST00000382194.1_Missense_Mutation_p.T1569M|SMARCA2_ENST00000349721.2_Missense_Mutation_p.T1587M|SMARCA2_ENST00000302401.3_Missense_Mutation_p.T275M|SMARCA2_ENST00000357248.2_Missense_Mutation_p.T1569M			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1587					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GGAAGTGGGACGGATGATGAG	0.373													8	31					0	0	0	0	T	2192726	C	T	2192726	3	4	331	1	0	0	0	0	1	0	0	0	14857	536	19	1	4890	1	SMARCA2	9	2192726	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08		2192726	139020705	134	61453											
ERMP1	79956	broad.mit.edu	37	chr9	5823980	5823980	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagctagcccaggggtgctGagtaatgaaaccatgactgg	12	7	13	9	0	0	3	0	3	0	0	0	3	0	3	2	3	4	3	2	3	4	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:5823980G>A	ENST00000339450.5	-	4	879	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	ERMP1_ENST00000381506.3_Nonsense_Mutation_p.Q40*|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	264					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CAGGGGTGCTGAGTAATGAAA	0.393													5	33					0	0	0	0	A	5823980	G	A	5823980	4	1	331	1	0	0	0	0	0	1	0	0	5274	1299	45	2	1972	2	ERMP1	9	5823980	Nonsense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	3631254	5823980	135389451	135	61454											
KIAA2026	158358	broad.mit.edu	37	chr9	5924783	5924783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcagtggtccatagttctCtattaaatgtatcatgatca	12	15	6	8	0	4	1	3	1	1	0	6	1	5	1	1	1	0	2	1	1	5	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:5924783C>T	ENST00000399933.3	-	7	2560	c.2561G>A	c.(2560-2562)aGa>aAa	p.R854K	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R824K	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	854										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCATAGTTCTCTATTAAATGT	0.373													6	26					0	0	0	0	T	5924783	C	T	5924783	3	4	331	1	0	0	0	0	1	0	0	0	8321	913	32	2	3758	2	KIAA2026	9	5924783	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	100803	5924783	135288648	136	61455											
TMEM215	401498	broad.mit.edu	37	chr9	32784622	32784622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaggaaggagaatgccaGagcctcgtccagaatgggca	13	4	15	9	2	0	3	0	0	0	3	2	6	1	5	3	4	2	1	3	4	3	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:32784622G>T	ENST00000342743.5	+	2	806	c.441G>T	c.(439-441)caG>caT	p.Q147H		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	147						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GAGAATGCCAGAGCCTCGTCC	0.632													5	30					0.014758	0.0150934	1	0	T	32784622	G	T	32784622	3	4	331	1	0	0	0	0	1	0	0	0	16232	933	33	2	443	2	TMEM215	9	32784622	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	26859839	32784622	108428809	137	61456											
DNAJB5	25822	broad.mit.edu	37	chr9	34996641	34996641	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatcacaaggcgtcgcctCaaccctgatgggcgaactgt	11	7	11	12	3	2	2	2	1	0	1	3	3	2	2	2	2	2	0	2	2	4	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:34996641C>G	ENST00000541010.1	+	2	3603	c.591C>G	c.(589-591)ctC>ctG	p.L197L	DNAJB5_ENST00000545841.1_Silent_p.L197L|DNAJB5_ENST00000312316.5_Silent_p.L197L|DNAJB5_ENST00000335998.3_Silent_p.L231L|DNAJB5_ENST00000454002.2_Silent_p.L269L|DNAJB5_ENST00000453597.3_Silent_p.L311L			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	197					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GGCGTCGCCTCAACCCTGATG	0.592													7	40					0	0	0	0	G	34996641	C	G	34996641	2	3	331	1	0	0	0	0	0	0	0	1	4659	813	29	2		2	DNAJB5	9	34996641	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2212019	34996641	106216790	138	61457											
SPAG8	26206	broad.mit.edu	37	chr9	35810898	35810898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgaagtggccaatagaCgtttcctggtggctggtacg	8	10	13	10	3	0	1	0	0	0	1	2	2	1	1	3	4	1	3	3	4	4	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:35810898C>T	ENST00000340291.2	-	3	1145	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	SPAG8_ENST00000396638.2_Missense_Mutation_p.V341I|SPAG8_ENST00000484764.1_Missense_Mutation_p.V339I|SPAG8_ENST00000479751.1_5'UTR	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	341						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCAATAGACGTTTCCTGGT	0.542													13	63					0	0	0	0	T	35810898	C	T	35810898	3	4	331	1	0	0	0	0	1	0	0	0	15074	536	19	1	707	1	SPAG8	9	35810898	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	814257	35810898	105402533	139	61458											
TMEM8B	51754	broad.mit.edu	37	chr9	35842634	35842634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggcccttccccctgagCgcccagccgtgttcgccatg	3	9	12	17	3	0	1	0	1	0	0	2	1	1	1	6	1	2	1	6	1	0	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:35842634C>T	ENST00000377988.2	+	6	1487	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	TMEM8B_ENST00000439587.2_Missense_Mutation_p.R67C|TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000377991.4_Missense_Mutation_p.R67C|TMEM8B_ENST00000377996.1_Missense_Mutation_p.R67C	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	67					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TCCCCCTGAGCGCCCAGCCGT	0.612													12	27					0	0	0	0	T	35842634	C	T	35842634	3	4	331	1	0	0	0	0	1	0	0	0	16309	768	27	1	201	1	TMEM8B	9	35842634	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	31736	35842634	105370797	140	61459											
ZBTB5	9925	broad.mit.edu	37	chr9	37441150	37441150	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggttcactaaatgggttctCtacatgggagccaggggcag	10	9	14	8	0	2	0	1	0	1	0	3	1	2	1	1	5	2	3	1	5	3	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:37441150C>G	ENST00000307750.4	-	2	1587	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		AATGGGTTCTCTACATGGGAG	0.597													15	14					0	0	0	0	G	37441150	C	G	37441150	3	3	331	1	0	0	0	0	1	0	0	0	17646	922	32	2	638	2	ZBTB5	9	37441150	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	1598516	37441150	103772281	141	61460											
BICD2	23299	broad.mit.edu	37	chr9	95484948	95484948	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagactcacctggttctgtCtgagcacagacacttgcttc	9	11	8	13	0	3	3	1	1	2	2	4	3	3	3	1	1	2	3	1	1	1	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:95484948C>G	ENST00000356884.6	-	3	663	c.596G>C	c.(595-597)aGa>aCa	p.R199T	BICD2_ENST00000375512.3_Missense_Mutation_p.R199T	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	199					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGGTTCTGTCTGAGCACAGA	0.577													17	18					0	0	0	0	G	95484948	C	G	95484948	3	3	331	1	0	0	0	0	1	0	0	0	1434	913	32	2	2001	2	BICD2	9	95484948	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	58043798	95484948	45728483	142	61461											
STX17	55014	broad.mit.edu	37	chr9	102677524	102677524	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacaacatttttttaggatGtctgaagatgaagaaaaagt	17	13	8	3	0	1	4	0	2	1	2	1	5	1	5	0	1	2	0	0	1	7	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:102677524G>A	ENST00000259400.6	+	2	139	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-60I3.4_ENST00000524512.1_RNA|STX17_ENST00000525640.1_Start_Codon_SNP_p.M1I|STX17_ENST00000534052.1_Start_Codon_SNP_p.M1I	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	1					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TTTTTAGGATGTCTGAAGATG	0.343													8	35					0	0	0	0	A	102677524	G	A	102677524	1	1	331	1	0	0	0	0	0	0	0	0	15430	1377	48	4		4	STX17	9	102677524	Translation_Start_Site	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	7192576	102677524	38535907	143	61462											
C9orf117	286207	broad.mit.edu	37	chr9	130474932	130474932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggttggaatttcctggaCgagggtgggtactggggcca	7	10	18	6	1	0	1	0	1	0	0	1	4	1	3	2	7	1	2	2	7	2	3	rs73600054	by1000genomes	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:130474932C>G	ENST00000373293.5	+	1	764	c.29C>G	c.(28-30)aCg>aGg	p.T10R	C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373295.2_Intron			Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	0										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATTTCCTGGACGAGGGTGGGT	0.572													3	28					0	0	0	0	G	130474932	C	G	130474932	3	3	331	1	0	0	0	0	1	0	0	0	2476	551	19	3		3	C9orf117	9	130474932	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	27797408	130474932	10738499	144	61463											
QSOX2	169714	broad.mit.edu	37	chr9	139108558	139108558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcttcttgactggcggccgtCcagggaacagctgcatgagg	7	8	15	11	2	1	2	0	2	1	0	2	3	2	3	2	4	3	3	2	4	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:139108558C>T	ENST00000358701.5	-	9	1134	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	366					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TGGCGGCCGTCCAGGGAACAG	0.647													12	53					0	0	0	0	T	139108558	C	T	139108558	3	4	331	1	0	0	0	0	1	0	0	0	12966	855	30	2	1015	2	QSOX2	9	139108558	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	8633626	139108558	2104873	145	61464											
SDCCAG3	10807	broad.mit.edu	37	chr9	139301870	139301870	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtaggccccactccatccGgtgtcctcatcctcctcctc	5	10	7	19	1	1	0	1	0	0	0	8	0	7	0	8	3	0	1	8	3	1	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr9:139301870G>A	ENST00000298537.7	-	4	688	c.477C>T	c.(475-477)acC>acT	p.T159T	SDCCAG3_ENST00000357365.3_Silent_p.T182T|SDCCAG3_ENST00000371725.3_Silent_p.T109T	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	182						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CACTCCATCCGGTGTCCTCAT	0.622													7	20					0	0	0	0	A	139301870	G	A	139301870	2	1	331	1	0	0	0	0	0	0	0	1	14045	1103	39	1		1	SDCCAG3	9	139301870	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	193312	139301870	1911561	146	61465											
ATP5C1	509	broad.mit.edu	37	chr10	7830209	7830209	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtcgctgggctgtcggcctgGaccttgcagccgcaatggta	5	9	15	12	3	0	0	0	0	0	0	2	1	0	1	3	4	2	5	3	4	2	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:7830209G>C	ENST00000356708.7	+	1	118	c.39G>C	c.(37-39)tgG>tgC	p.W13C	ATP5C1_ENST00000335698.4_Missense_Mutation_p.W13C|ATP5C1_ENST00000541227.1_5'UTR|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	13					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TGTCGGCCTGGACCTTGCAGC	0.672													5	26					0	0	0	0	C	7830209	G	C	7830209	3	2	331	1	0	0	0	0	1	0	0	0	1153	1183	41	2	41	2	ATP5C1	10	7830209	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08		7830209	127704538	147	61466											
ARMC4	55130	broad.mit.edu	37	chr10	28250520	28250520	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatatttcaccagcttctGaatttgccaatattctgatg	12	16	5	8	0	3	2	1	2	2	0	3	2	3	2	2	0	2	1	2	0	6	7			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:28250520G>A	ENST00000305242.5	-	10	1455	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.Q147*|ARMC4_ENST00000239715.3_Nonsense_Mutation_p.Q312*|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	455							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACCAGCTTCTGAATTTGCCAA	0.388													7	18					0	0	0	0	A	28250520	G	A	28250520	4	1	331	1	0	0	0	0	0	1	0	0	957	1299	45	2	1815	2	ARMC4	10	28250520	Nonsense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	20420311	28250520	107284227	148	61467											
ZNF248	57209	broad.mit.edu	37	chr10	38121522	38121522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatatattcagctttaaaCtttcaatgaaggttcttcca	13	15	6	7	0	3	2	2	1	1	1	4	3	4	2	1	1	2	2	1	1	6	8			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:38121522C>T	ENST00000395867.3	-	6	1311	c.761G>A	c.(760-762)aGt>aAt	p.S254N	ZNF248_ENST00000357328.4_Missense_Mutation_p.S254N|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CAGCTTTAAACTTTCAATGAA	0.383													6	25					0	0	0	0	T	38121522	C	T	38121522	3	4	331	1	0	0	0	0	1	0	0	0	17888	565	20	4	982	4	ZNF248	10	38121522	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	9871002	38121522	97413225	149	61468											
RNLS	55328	broad.mit.edu	37	chr10	90342943	90342943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccacgatcagcacctgcGccatggcgagagggagcagc	9	3	14	15	4	1	1	1	0	0	1	1	4	1	2	3	2	4	2	3	2	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:90342943G>A	ENST00000371947.3	-	1	1344	c.5C>T	c.(4-6)gCg>gTg	p.A2V	RNLS_ENST00000437752.1_Missense_Mutation_p.A2V|RNLS_ENST00000331772.4_Missense_Mutation_p.A2V|RNLS_ENST00000466945.1_5'UTR	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	2						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CAGCACCTGCGCCATGGCGAG	0.672											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	27					0	0	0	0	A	90342943	G	A	90342943	3	1	331	1	0	0	0	0	1	0	0	0	13590	1087	38	1	1127	1	RNLS	10	90342943	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	52221421	90342943	45191804	150	61469											
IDE	3416	broad.mit.edu	37	chr10	94225476	94225476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgttgaagcaaggttccgaGataatctgacagaagagctc	13	9	12	7	1	1	5	0	2	1	3	3	6	2	5	1	1	2	4	1	1	4	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:94225476G>C	ENST00000265986.6	-	20	2501	c.2445C>G	c.(2443-2445)atC>atG	p.I815M	IDE_ENST00000371581.5_Missense_Mutation_p.I260M|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	815					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGGTTCCGAGATAATCTGAC	0.443													8	28					0	0	0	0	C	94225476	G	C	94225476	3	2	331	1	0	0	0	0	1	0	0	0	7546	932	33	2	638	2	IDE	10	94225476	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	3882533	94225476	41309271	151	61470											
PIK3AP1	118788	broad.mit.edu	37	chr10	98392664	98392664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagatgaccctgggacatgCttggcaccagtccactcaca	11	7	9	14	0	1	2	1	1	0	1	2	3	2	3	3	2	1	2	3	2	1	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:98392664C>T	ENST00000371109.3	-	1	334	c.153G>A	c.(151-153)aaG>aaA	p.K51K	PIK3AP1_ENST00000371110.2_Intron|PIK3AP1_ENST00000468783.1_Intron|PIK3AP1_ENST00000339364.5_Intron			Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	449						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ctgggacatgcttggcaccag	0.478													10	28					0	0	0	0	T	98392664	C	T	98392664	2	4	331	1	0	0	0	0	0	0	0	1	11980	812	28	4		4	PIK3AP1	10	98392664	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	4167188	98392664	37142083	152	61471											
SEMA4G	57715	broad.mit.edu	37	chr10	102738058	102738058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttgttccctaggatgctGaggccttcaccttgccaacc	6	12	8	15	0	1	1	1	1	0	0	3	2	3	2	6	2	3	2	6	2	2	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:102738058G>A	ENST00000210633.3	+	5	520	c.442G>A	c.(442-444)Gag>Aag	p.E148K	SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.E148K|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E148K|MRPL43_ENST00000318325.2_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	148	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CTAGGATGCTGAGGCCTTCAC	0.562													6	15					0	0	0	0	A	102738058	G	A	102738058	3	1	331	1	0	0	0	0	1	0	0	0	14123	1291	45	2	460	2	SEMA4G	10	102738058	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4345394	102738058	32796689	153	61472											
HPS6	79803	broad.mit.edu	37	chr10	103827017	103827017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcagggcgggccgggctggGgggcagggggcccaggactg	5	2	24	10	2	0	0	0	0	0	0	0	1	0	1	2	9	1	3	2	9	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:103827017G>A	ENST00000299238.5	+	1	1871	c.1786G>A	c.(1786-1788)Ggg>Agg	p.G596R		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	596						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCCGGGCTGGGGGGCAGGGGG	0.677									Hermansky-Pudlak syndrome				11	29					0	0	0	0	A	103827017	G	A	103827017	3	1	331	1	0	0	0	0	1	0	0	0	7393	1232	43	4	1788	4	HPS6	10	103827017	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	1088959	103827017	31707730	154	61473											
NFKB2	4791	broad.mit.edu	37	chr10	104161543	104161543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atacagctctgcagaacctgGagcagctgctagacgggcca	11	6	12	12	1	1	2	0	0	1	2	1	3	1	3	2	2	7	5	2	2	3	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:104161543G>C	ENST00000369966.3	+	21	2585	c.2335G>C	c.(2335-2337)Gag>Cag	p.E779Q	NFKB2_ENST00000428099.1_Missense_Mutation_p.E779Q|NFKB2_ENST00000189444.6_Missense_Mutation_p.E779Q	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	779	Death.		Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		GCAGAACCTGGAGCAGCTGCT	0.602			T	IGH@	B-NHL								3	18					0	0	0	0	C	104161543	G	C	104161543	3	2	331	1	0	0	0	0	1	0	0	0	10446	1175	41	2	2413	2	NFKB2	10	104161543	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	334526	104161543	31373204	155	61474											
AFAP1L2	84632	broad.mit.edu	37	chr10	116060094	116060094	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtggtgattctcagggaagGatcctctggctccaaactct	8	11	12	10	0	3	1	1	1	3	0	6	3	5	3	2	5	1	1	2	5	2	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:116060094G>C	ENST00000369271.3	-	15	2116	c.1816C>G	c.(1816-1818)Cct>Gct	p.P606A	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.P659A|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.P606A	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	606					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTCAGGGAAGGATCCTCTGGC	0.607													35	93					0	0	0	0	C	116060094	G	C	116060094	3	2	331	1	0	0	0	0	1	0	0	0	355	1174	41	2	660	2	AFAP1L2	10	116060094	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	11898551	116060094	19474653	156	61475											
HMX3	340784	broad.mit.edu	37	chr10	124896593	124896593	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcggagaaggccttgctGagagactcctcccccgcctc	6	7	11	17	2	0	3	0	1	0	2	4	5	2	3	6	2	1	1	6	2	1	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:124896593G>A	ENST00000357878.5	+	2	509	c.420G>A	c.(418-420)ctG>ctA	p.L140L		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	140					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AGGCCTTGCTGAGAGACTCCT	0.682													8	15					0	0	0	0	A	124896593	G	A	124896593	2	1	331	1	0	0	0	0	0	0	0	1	7298	1277	45	2		2	HMX3	10	124896593	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	8836499	124896593	10638154	157	61476											
DHX32	55760	broad.mit.edu	37	chr10	127569387	127569387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggacactccagcccttcttCttccatcttgtctgacagtg	6	14	7	14	0	4	1	0	1	4	0	6	2	6	2	3	1	1	0	3	1	0	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr10:127569387C>T	ENST00000284690.3	-	1	497	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	DHX32_ENST00000284688.6_Missense_Mutation_p.E3K	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	3						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGCCCTTCTTCTTCCATCTTG	0.463													17	44					0	0	0	0	T	127569387	C	T	127569387	3	4	331	1	0	0	0	0	1	0	0	0	4542	922	32	2	2268	2	DHX32	10	127569387	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2672794	127569387	7965360	158	61477											
ANO9	338440	broad.mit.edu	37	chr11	433424	433424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagacactgttgtcagcacgGatcccaaagaagacctgttt	13	9	9	10	1	1	3	1	0	0	3	2	4	2	4	2	1	1	3	2	1	3	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:433424G>C	ENST00000332826.6	-	4	324	c.240C>G	c.(238-240)atC>atG	p.I80M		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	80						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGTCAGCACGGATCCCAAAGA	0.642													23	53					0	0	0	0	C	433424	G	C	433424	3	2	331	1	0	0	0	0	1	0	0	0	703	1164	41	2	2188	2	ANO9	11	433424	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08		433424	134573092	159	61478											
MUC6	4588	broad.mit.edu	37	chr11	1016760	1016760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacttggagtcaccaaggagGtggagaaaggtggaacgtga	13	7	16	5	1	1	2	1	1	0	1	1	6	1	5	1	6	2	0	1	6	4	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:1016760G>T	ENST00000421673.2	-	31	6091	c.6041C>A	c.(6040-6042)aCc>aAc	p.T2014N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2014	Thr-rich.				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)		CACCAAGGAGGTGGAGAAAGG	0.537													30	633					3.1745e-13	3.55158e-13	1	0	T	1016760	G	T	1016760	3	4	331	1	0	0	0	0	1	0	0	0	10050	1261	44	4	1290	4	MUC6	11	1016760	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	583336	1016760	133989756	160	61479											
OR51B5	282763	broad.mit.edu	37	chr11	5364075	5364075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggccctctcctctctggagGcaatgctcaggacagtcttg	6	11	11	13	0	4	0	1	0	3	0	6	2	4	2	2	4	1	2	2	4	1	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:5364075G>T	ENST00000300773.2	-	1	734	c.680C>A	c.(679-681)gCc>gAc	p.A227D	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTCTGGAGGCAATGCTCAG	0.443													12	39					0.00010058	0.000105258	1	0	T	5364075	G	T	5364075	3	4	331	1	0	0	0	0	1	0	0	0	11162	1203	42	4	262	4	OR51B5	11	5364075	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4347315	5364075	129642441	161	61480											
MICAL2	9645	broad.mit.edu	37	chr11	12262600	12262600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccaggaacgccgtgtctCagggataggtaagccggtcc	8	7	13	13	3	1	0	1	0	1	0	4	2	3	2	4	4	2	1	4	4	3	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:12262600C>T	ENST00000256194.4	+	18	2516	c.2228C>T	c.(2227-2229)tCa>tTa	p.S743L	MICAL2_ENST00000342902.5_Missense_Mutation_p.S743L|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000527546.1_Intron	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	743						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CGCCGTGTCTCAGGGATAGGT	0.582													19	69					0	0	0	0	T	12262600	C	T	12262600	3	4	331	1	0	0	0	0	1	0	0	0	9639	838	29	2	2290	2	MICAL2	11	12262600	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	6898525	12262600	122743916	162	61481											
NELL1	4745	broad.mit.edu	37	chr11	21592355	21592355	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagcttgtgattgccagaatCcaagtgctgacctattctgt	9	13	9	10	0	1	3	0	2	1	1	2	3	2	3	3	0	3	2	3	0	3	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:21592355C>G	ENST00000298925.5	+	19	2263	c.2110C>G	c.(2110-2112)Cca>Gca	p.P704A	NELL1_ENST00000325319.5_Missense_Mutation_p.P619A|NELL1_ENST00000357134.5_Missense_Mutation_p.P676A|NELL1_ENST00000532434.1_Missense_Mutation_p.P629A|NELL1_ENST00000529218.1_3'UTR			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	676	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTGCCAGAATCCAAGTGCTGA	0.433													15	43					0	0	0	0	G	21592355	C	G	21592355	3	3	331	1	0	0	0	0	1	0	0	0	10403	855	30	2	2096	2	NELL1	11	21592355	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	9329755	21592355	113414161	163	61482											
EXT2	2132	broad.mit.edu	37	chr11	44135751	44135751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagggccctgttggctggtGgcggcttttctacgtggact	3	13	15	10	2	2	0	1	0	1	0	2	1	2	1	1	6	1	3	1	6	1	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:44135751G>A	ENST00000395673.3	+	4	798	c.742G>A	c.(742-744)Ggc>Agc	p.G248S	EXT2_ENST00000533608.1_Missense_Mutation_p.G215S|EXT2_ENST00000358681.4_Missense_Mutation_p.G215S|EXT2_ENST00000343631.3_Missense_Mutation_p.G215S|EXT2_ENST00000529186.1_3'UTR	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	215					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTTGGCTGGTGGCGGCTTTTC	0.473			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				16	50					0	0	0	0	A	44135751	G	A	44135751	3	1	331	1	0	0	0	0	1	0	0	0	5362	1348	47	4	756	4	EXT2	11	44135751	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	22543396	44135751	90870765	164	61483											
LRP4	4038	broad.mit.edu	37	chr11	46920136	46920136	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgctcatcagactggtcatCacagtccgcgtcaccatcgc	8	8	9	16	4	5	1	5	0	0	1	7	1	6	1	2	1	0	1	2	1	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:46920136C>G	ENST00000378623.1	-	7	1011	c.769G>C	c.(769-771)Gat>Cat	p.D257H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	257	LDL-receptor class A 6.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GACTGGTCATCACAGTCCGCG	0.577													36	98					0	0	0	0	G	46920136	C	G	46920136	3	3	331	1	0	0	0	0	1	0	0	0	9023	826	29	2	5076	2	LRP4	11	46920136	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2784385	46920136	88086380	165	61484											
PSMC3	5702	broad.mit.edu	37	chr11	47446705	47446705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagacaaggtacggcagggtCttgttcactttgattttctc	8	14	11	8	1	3	2	1	1	2	1	4	3	3	2	0	3	1	3	0	3	2	6			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:47446705C>G	ENST00000298852.3	-	3	409	c.252G>C	c.(250-252)aaG>aaC	p.K84N	PSMC3_ENST00000602866.1_Missense_Mutation_p.K68N|PSMC3_ENST00000530912.1_Intron	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	84					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACGGCAGGGTCTTGTTCACTT	0.512													10	48					0	0	0	0	G	47446705	C	G	47446705	3	3	331	1	0	0	0	0	1	0	0	0	12766	912	32	2	1107	2	PSMC3	11	47446705	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	526569	47446705	87559811	166	61485											
FNBP4	23360	broad.mit.edu	37	chr11	47786901	47786901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actctaggaacctcctgcacCgcttcctgttcatctggatt	7	13	7	14	1	3	0	1	0	2	0	5	2	5	2	4	2	2	3	4	2	2	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:47786901C>T	ENST00000263773.5	-	2	246	c.234G>A	c.(232-234)gcG>gcA	p.A78A	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	78								p.A78A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCTCCTGCACCGCTTCCTGTT	0.378													39	89					0	0	0	0	T	47786901	C	T	47786901	2	4	331	1	0	0	0	0	0	0	0	1	6012	639	23	1		1	FNBP4	11	47786901	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	340196	47786901	87219615	167	61486											
OR5M3	219482	broad.mit.edu	37	chr11	56237827	56237827	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggttgttaagctgaggactGaccttgattaacaccatcat	11	12	10	8	0	1	3	1	3	0	0	1	4	1	4	2	2	2	3	2	2	2	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:56237827G>C	ENST00000312240.2	-	1	187	c.147C>G	c.(145-147)gtC>gtG	p.V49V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GCTGAGGACTGACCTTGATTA	0.438													13	51					0	0	0	0	C	56237827	G	C	56237827	2	2	331	1	0	0	0	0	0	0	0	1	11246	1277	45	2		2	OR5M3	11	56237827	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	8450926	56237827	78768689	168	61487											
TMEM132A	54972	broad.mit.edu	37	chr11	60694810	60694810	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctctgagctcccgatctGagacctttctgctcctacag	6	12	7	16	1	3	2	0	2	3	1	6	4	5	2	4	0	3	2	4	0	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:60694810G>C	ENST00000005286.4	+	2	388	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	TMEM132A_ENST00000453848.2_Missense_Mutation_p.E79Q	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	79						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTCCCGATCTGAGACCTTTCT	0.657													19	50					0	0	0	0	C	60694810	G	C	60694810	3	2	331	1	0	0	0	0	1	0	0	0	16139	1291	45	2	241	2	TMEM132A	11	60694810	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4456983	60694810	74311706	169	61488											
SLC22A6	9356	broad.mit.edu	37	chr11	62744824	62744824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggctcacgatgctgcccactCgggccatggtgctgcccatt	5	9	12	15	2	1	0	1	0	0	0	2	1	1	0	3	3	4	3	3	3	0	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:62744824C>G	ENST00000377871.3	-	9	1663	c.1397G>C	c.(1396-1398)cGa>cCa	p.R466P	SLC22A6_ENST00000360421.4_Missense_Mutation_p.R466P|SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000458333.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	466					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCTGCCCACTCGGGCCATGGT	0.622													5	23					0	0	0	0	G	62744824	C	G	62744824	3	3	331	1	0	0	0	0	1	0	0	0	14546	884	31	3	302	3	SLC22A6	11	62744824	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2050014	62744824	72261692	170	61489											
CDC42BPG	55561	broad.mit.edu	37	chr11	64602360	64602360	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgggtgcctacgttcctCaaggactccagctcctctgc	5	11	10	15	1	3	0	1	0	2	0	6	1	6	1	4	2	4	2	4	2	2	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:64602360C>T	ENST00000342711.5	-	18	2135	c.2136G>A	c.(2134-2136)ttG>ttA	p.L712L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	712					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CTACGTTCCTCAAGGACTCCA	0.627													14	35					0	0	0	0	T	64602360	C	T	64602360	2	4	331	1	0	0	0	0	0	0	0	1	3103	825	29	2		2	CDC42BPG	11	64602360	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	1857536	64602360	70404156	171	61490											
CCDC85B	11007	broad.mit.edu	37	chr11	65658862	65658862	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctgttcccccgatgattGaaggcactgcttcctccacg	6	10	10	15	2	0	2	0	2	0	0	3	3	3	2	5	2	1	3	5	2	1	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:65658862G>A	ENST00000312579.2	+	1	988	c.608G>A	c.(607-609)tGa>tAa	p.*203*		NM_006848.2	NP_006839.2	Q15834	CC85B_HUMAN	coiled-coil domain containing 85B	0					cell differentiation|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	protein binding								READ - Rectum adenocarcinoma(159;0.166)		CCCGATGATTGAAGGCACTGC	0.711													3	21					0	0	0	0	A	65658862	G	A	65658862	2	1	331	1	0	0	0	0	0	0	0	1	2887	1285	45	2		2	CCDC85B	11	65658862	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	1056502	65658862	69347654	172	61491											
GDPD4	220032	broad.mit.edu	37	chr11	76982353	76982353	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcttacctgcattgacagcCcagctaccagccacctttct	8	11	6	16	0	1	1	0	1	1	0	1	1	1	1	5	0	7	3	5	0	2	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:76982353C>G	ENST00000315938.4	-	5	543	c.293G>C	c.(292-294)gGg>gCg	p.G98A	GDPD4_ENST00000376217.2_Missense_Mutation_p.G98A	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	98					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CATTGACAGCCCAGCTACCAG	0.433													9	40					0	0	0	0	G	76982353	C	G	76982353	3	3	331	1	0	0	0	0	1	0	0	0	6377	623	22	4	1317	4	GDPD4	11	76982353	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	11323491	76982353	58024163	173	61492											
TRPC6	7225	broad.mit.edu	37	chr11	101347192	101347192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctaacataccaaaatcaagCatgttccacaactcaaacaa	19	7	3	12	0	2	0	2	0	0	0	3	0	3	0	2	0	5	3	2	0	8	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:101347192C>T	ENST00000344327.3	-	6	2008	c.1584G>A	c.(1582-1584)atG>atA	p.M528I	TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.M473I|TRPC6_ENST00000348423.4_Missense_Mutation_p.M412I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	528					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CAAAATCAAGCATGTTCCACA	0.418													11	42					0	0	0	0	T	101347192	C	T	101347192	3	4	331	1	0	0	0	0	1	0	0	0	16678	710	25	4	1243	4	TRPC6	11	101347192	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	24364839	101347192	33659324	174	61493											
C11orf1	64776	broad.mit.edu	37	chr11	111754583	111754583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagaaaagtcaacttacatGaatagctattcaaagcctta	18	10	5	8	0	2	2	2	1	0	1	2	2	2	2	1	0	4	1	1	0	9	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:111754583G>A	ENST00000260276.3	+	4	769	c.432G>A	c.(430-432)atG>atA	p.M144I	C11orf1_ENST00000530214.1_Silent_p.*122*|C11orf1_ENST00000529270.1_Missense_Mutation_p.M184I|C11orf1_ENST00000528125.1_Missense_Mutation_p.M98I	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	144						nucleus				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		CAACTTACATGAATAGCTATT	0.398													10	30					0	0	0	0	A	111754583	G	A	111754583	3	1	331	1	0	0	0	0	1	0	0	0	1639	1290	45	2	446	2	C11orf1	11	111754583	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	10407391	111754583	23251933	175	61494											
PHLDB1	23187	broad.mit.edu	37	chr11	118498622	118498622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctgcctgtggtggccatCagcctgagtgaatacccagc	8	8	12	13	0	1	2	1	2	0	0	1	2	1	2	4	2	5	1	4	2	2	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:118498622C>T	ENST00000361417.2	+	7	1494	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	PHLDB1_ENST00000356063.5_Silent_p.I361I	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	361										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGGTGGCCATCAGCCTGAGTG	0.632													14	34					0	0	0	0	T	118498622	C	T	118498622	2	4	331	1	0	0	0	0	0	0	0	1	11923	816	29	2		2	PHLDB1	11	118498622	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	6744039	118498622	16507894	176	61495											
PHLDB1	23187	broad.mit.edu	37	chr11	118498655	118498655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacccagcttctggtgctctCagtcaacccaccagcattcc	8	10	6	17	0	3	0	2	0	2	0	5	0	4	0	4	1	5	3	4	1	2	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:118498655C>T	ENST00000361417.2	+	7	1527	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	PHLDB1_ENST00000356063.5_Silent_p.L372L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	372										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGGTGCTCTCAGTCAACCCA	0.637													20	50					0	0	0	0	T	118498655	C	T	118498655	2	4	331	1	0	0	0	0	0	0	0	1	11923	813	29	2		2	PHLDB1	11	118498655	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	33	118498655	16507861	177	61496											
PHLDB1	23187	broad.mit.edu	37	chr11	118509672	118509672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaggccgtgcaggaatcaGaacgcctggcccgggacaag	10	4	14	13	3	2	1	2	0	0	1	2	3	2	3	3	4	2	1	3	4	3	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:118509672G>A	ENST00000361417.2	+	12	3010	c.2599G>A	c.(2599-2601)Gaa>Aaa	p.E867K	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.E867K|PHLDB1_ENST00000527898.1_5'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	867										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCAGGAATCAGAACGCCTGGC	0.622													7	22					0	0	0	0	A	118509672	G	A	118509672	3	1	331	1	0	0	0	0	1	0	0	0	11923	943	33	2	2637	2	PHLDB1	11	118509672	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	11017	118509672	16496844	178	61497											
PHLDB1	23187	broad.mit.edu	37	chr11	118514626	118514626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcctcccagctcagcGtggctaccctggggcgtagc	4	8	11	18	2	1	0	1	0	0	0	4	0	4	0	5	3	4	3	5	3	2	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:118514626G>A	ENST00000361417.2	+	15	3397	c.2986G>A	c.(2986-2988)Gtg>Atg	p.V996M	PHLDB1_ENST00000524713.1_Missense_Mutation_p.V139M|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.V949M|PHLDB1_ENST00000527898.1_Missense_Mutation_p.V32M	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	996										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		cCAGCTCAGCGTGGCTACCCT	0.687													9	26					0	0	0	0	A	118514626	G	A	118514626	3	1	331	1	0	0	0	0	1	0	0	0	11923	1145	40	1	3036	1	PHLDB1	11	118514626	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4954	118514626	16491890	179	61498											
ABCG4	64137	broad.mit.edu	37	chr11	119025031	119025031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgggagctgaggaccttcCgcaagatgtcctgctacatc	9	8	11	13	2	0	2	0	1	0	1	3	4	2	4	3	2	3	3	3	2	2	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:119025031C>T	ENST00000307417.3	+	4	782	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	ABCG4_ENST00000449422.2_Missense_Mutation_p.R140C|ABCG4_ENST00000531739.1_Missense_Mutation_p.R140C	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	140	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GAGGACCTTCCGCAAGATGTC	0.577													20	46					0	0	0	0	T	119025031	C	T	119025031	3	4	331	1	0	0	0	0	1	0	0	0	70	652	23	1	428	1	ABCG4	11	119025031	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	510405	119025031	15981485	180	61499											
SORL1	6653	broad.mit.edu	37	chr11	121461593	121461593	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagctgtgccagtcactgGcctccctcagcaggtacagc	8	7	11	15	0	2	1	2	0	0	1	3	1	3	1	3	2	5	3	3	2	1	1	rs2282647	by1000genomes	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:121461593G>C	ENST00000527934.1	+	1	466	c.45G>C	c.(43-45)tgG>tgC	p.W15C	SORL1_ENST00000260197.7_Intron|SORL1_ENST00000525532.1_Intron|SORL1_ENST00000534286.1_Intron|SORL1_ENST00000532694.1_Intron			Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1216					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCAGTCACTGGCCTCCCTCAG	0.463											OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	69					0	0	0	0	C	121461593	G	C	121461593	3	2	331	1	0	0	0	0	1	0	0	0	15022	1218	42	4		4	SORL1	11	121461593	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	2436562	121461593	13544923	181	61500											
ZNF202	7753	broad.mit.edu	37	chr11	123598959	123598959	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catacggccacatccttgaaCgttaccagtccctgaaacca	12	8	6	15	2	0	2	0	2	0	0	2	2	2	2	5	1	4	1	5	1	4	3	rs144471098	byFrequency	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:123598959C>T	ENST00000336139.4	-	6	1076	c.714G>A	c.(712-714)acG>acA	p.T238T	ZNF202_ENST00000529691.1_Silent_p.T238T|ZNF202_ENST00000530393.1_Silent_p.T238T			O95125	ZN202_HUMAN	zinc finger protein 202	238	KRAB.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CATCCTTGAACGTTACCAGTC	0.463													4	50					0	0	0	0	T	123598959	C	T	123598959	2	4	331	1	0	0	0	0	0	0	0	1	17858	523	19	1		1	ZNF202	11	123598959	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2137366	123598959	11407557	182	61501											
KCNJ5	3762	broad.mit.edu	37	chr11	128782077	128782077	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagagtttgaagttgtggtCattctagaagggatggtgga	11	12	16	2	0	2	3	1	1	1	2	2	6	2	5	0	4	0	2	0	4	4	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr11:128782077C>T	ENST00000529694.1	+	2	1285	c.909C>T	c.(907-909)gtC>gtT	p.V303V	KCNJ5_ENST00000533599.1_Silent_p.V303V|KCNJ5_ENST00000338350.4_Silent_p.V303V	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	303					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AAGTTGTGGTCATTCTAGAAG	0.517													23	59					0	0	0	0	T	128782077	C	T	128782077	2	4	331	1	0	0	0	0	0	0	0	1	8107	813	29	2		2	KCNJ5	11	128782077	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	5183118	128782077	6224439	183	61502											
C12orf5	57103	broad.mit.edu	37	chr12	4430449	4430449	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgggaacatggctcgcttCgctctgactgttgtccggca	5	11	12	13	4	1	1	0	1	1	0	5	2	3	2	2	3	1	5	2	3	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:4430449C>T	ENST00000179259.4	+	1	79	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	4						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)			TGGCTCGCTTCGCTCTGACTG	0.647													27	66					0	0	0	0	T	4430449	C	T	4430449	2	4	331	1	0	0	0	0	0	0	0	1	1706	883	31	1		1	C12orf5	12	4430449	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08		4430449	129421446	184	61503											
VWF	7450	broad.mit.edu	37	chr12	6134769	6134769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgcagtcctggaagaCgtcactggtaaggattctac	9	12	11	9	1	2	1	1	0	1	1	3	3	3	3	1	3	2	3	1	3	3	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:6134769C>T	ENST00000261405.5	-	24	3453	c.3199G>A	c.(3199-3201)Gtc>Atc	p.V1067I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1067	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCTGGAAGACGTCACTGGTA	0.552													3	11					0	0	0	0	T	6134769	C	T	6134769	3	4	331	1	0	0	0	0	1	0	0	0	17342	536	19	1	5358	1	VWF	12	6134769	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	1704320	6134769	127717126	185	61504											
TAPBPL	55080	broad.mit.edu	37	chr12	6566632	6566632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgctggggtcctcagcctCcttggactgtggcttctcca	3	12	11	15	0	2	0	1	0	1	0	5	1	4	1	5	4	2	2	5	4	0	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:6566632C>T	ENST00000266556.7	+	4	791	c.626C>T	c.(625-627)tCc>tTc	p.S209F	TAPBPL_ENST00000544021.1_Missense_Mutation_p.S132F|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	209	Ig-like V-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TCCTCAGCCTCCTTGGACTGT	0.582													15	50					0	0	0	0	T	6566632	C	T	6566632	3	4	331	1	0	0	0	0	1	0	0	0	15644	855	30	2	640	2	TAPBPL	12	6566632	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	431863	6566632	127285263	186	61505											
ATN1	1822	broad.mit.edu	37	chr12	7046408	7046408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccacccggatacaaacccGggtcgcctccctccttccga	7	6	7	21	4	0	0	0	0	0	0	4	2	3	1	8	2	2	0	8	2	2	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:7046408G>A	ENST00000356654.4	+	5	2215	c.1978G>A	c.(1978-1980)Ggg>Agg	p.G660R	ATN1_ENST00000396684.2_Missense_Mutation_p.G660R	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	660					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ATACAAACCCGGGTCGCCTCC	0.697													9	16					0	0	0	0	A	7046408	G	A	7046408	3	1	331	1	0	0	0	0	1	0	0	0	1115	1116	39	1	1992	1	ATN1	12	7046408	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	479776	7046408	126805487	187	61506											
CSAD	51380	broad.mit.edu	37	chr12	53554913	53554913	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaggggactgtatgcacctCtggatcccatccaggagatg	10	8	13	10	0	1	1	0	0	1	1	3	5	3	3	3	4	1	2	3	4	2	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:53554913C>G	ENST00000267085.4	-	12	1196	c.963G>C	c.(961-963)caG>caC	p.Q321H	CSAD_ENST00000379843.3_Missense_Mutation_p.Q147H|CSAD_ENST00000453446.2_Missense_Mutation_p.Q294H|CSAD_ENST00000444623.1_Missense_Mutation_p.Q294H|CSAD_ENST00000379846.1_Missense_Mutation_p.Q147H	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	294					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GTATGCACCTCTGGATCCCAT	0.577													5	15					0	0	0	0	G	53554913	C	G	53554913	3	3	331	1	0	0	0	0	1	0	0	0	3955	912	32	2	623	2	CSAD	12	53554913	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	46508505	53554913	80296982	188	61507											
DNAJC14	85406	broad.mit.edu	37	chr12	56216472	56216472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagcctattacactcaGcacagtatctggcactctta	11	11	7	12	0	3	0	1	0	2	0	3	1	3	0	1	1	4	4	1	1	4	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:56216472G>A	ENST00000357606.3	-	6	1968	c.1679C>T	c.(1678-1680)gCt>gTt	p.A560V	RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317287.5_Missense_Mutation_p.A560V|DNAJC14_ENST00000317269.3_Missense_Mutation_p.A560V|RP11-762I7.5_ENST00000546837.1_Silent_p.C189C			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	560					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						ATTACACTCAGCACAGTATCT	0.473													26	64					0	0	0	0	A	56216472	G	A	56216472	3	1	331	1	0	0	0	0	1	0	0	0	4669	971	34	4	441	4	DNAJC14	12	56216472	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	2661559	56216472	77635423	189	61508											
NACA	4666	broad.mit.edu	37	chr12	57112437	57112437	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggtgtgggggcccatttCggggatggggtagctgggcc	3	8	23	7	1	0	0	0	0	0	0	1	1	0	1	2	9	1	2	2	9	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:57112437C>T	ENST00000454682.1	-	3	3158	c.2877G>A	c.(2875-2877)ccG>ccA	p.P959P	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	p.P959P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGCCCATTTCGGGGATGGGG	0.657			T	BCL6	NHL								11	31					0	0	0	0	T	57112437	C	T	57112437	2	4	331	1	0	0	0	0	0	0	0	1	10203	871	31	1		1	NACA	12	57112437	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	895965	57112437	76739458	190	61509											
MYO1A	4640	broad.mit.edu	37	chr12	57437747	57437747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtcacctctagcacttgtCgaatctcctcctccgagaac	9	11	6	15	2	3	1	1	0	2	1	7	3	5	1	4	0	2	1	4	0	3	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:57437747C>T	ENST00000442789.2	-	11	1072	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	MYO1A_ENST00000544473.1_Missense_Mutation_p.R100Q|MYO1A_ENST00000300119.3_Missense_Mutation_p.R262Q	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	262	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TAGCACTTGTCGAATCTCCTC	0.512													17	45					0	0	0	0	T	57437747	C	T	57437747	3	4	331	1	0	0	0	0	1	0	0	0	10138	884	31	1	2422	1	MYO1A	12	57437747	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	325310	57437747	76414148	191	61510											
B4GALNT1	2583	broad.mit.edu	37	chr12	58021630	58021630	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccggagatctcgcgcacCgcgccccccacctgcaggga	8	3	12	18	5	1	1	0	0	1	1	2	3	1	2	6	2	2	2	6	2	1	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:58021630C>T	ENST00000341156.4	-	10	1739	c.1155G>A	c.(1153-1155)gcG>gcA	p.A385A	B4GALNT1_ENST00000418555.2_Silent_p.A330A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	385					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.A385A(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCTCGCGCACCGCGCCCCCCA	0.711													3	8					0	0	0	0	T	58021630	C	T	58021630	2	4	331	1	0	0	0	0	0	0	0	1	1270	639	23	1		1	B4GALNT1	12	58021630	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	583883	58021630	75830265	192	61511											
CCT2	10576	broad.mit.edu	37	chr12	69993770	69993770	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcgtgtggacaacatcatCaaagcggcacccaggtaccc	11	6	10	14	2	2	0	2	0	0	0	2	1	2	1	2	3	4	2	2	3	3	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:69993770C>T	ENST00000543146.2	+	15	1904	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	CCT2_ENST00000299300.6_Silent_p.I521I|CCT2_ENST00000544368.2_Intron	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	521					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ACAACATCATCAAAGCGGCAC	0.398													8	19					0	0	0	0	T	69993770	C	T	69993770	2	4	331	1	0	0	0	0	0	0	0	1	2982	816	29	2		2	CCT2	12	69993770	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	11972140	69993770	63858125	193	61512											
SYT1	6857	broad.mit.edu	37	chr12	79611333	79611333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccatgaggccctggcaGccccgcctgtcaccactgtc	6	7	10	18	1	2	1	2	1	0	0	3	1	2	1	6	2	1	1	6	2	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:79611333G>A	ENST00000261205.4	+	4	691	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	SYT1_ENST00000457153.2_Missense_Mutation_p.A12T|SYT1_ENST00000393240.3_Missense_Mutation_p.A12T|SYT1_ENST00000552744.1_Missense_Mutation_p.A12T	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	12					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GGCCCTGGCAGCCCCGCCTGT	0.532													6	20					0	0	0	0	A	79611333	G	A	79611333	3	1	331	1	0	0	0	0	1	0	0	0	15556	971	34	4	36	4	SYT1	12	79611333	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	9617563	79611333	54240562	194	61513											
UTP20	27340	broad.mit.edu	37	chr12	101766734	101766734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttggaattcatgctcgctCaactgaagtaagcttaagct	12	12	8	9	1	2	1	2	1	0	0	3	2	2	2	0	1	4	5	0	1	5	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:101766734C>G	ENST00000261637.4	+	52	7045	c.6871C>G	c.(6871-6873)Caa>Gaa	p.Q2291E		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2291					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CATGCTCGCTCAACTGAAGTA	0.413													9	16					0	0	0	0	G	101766734	C	G	101766734	3	3	331	1	0	0	0	0	1	0	0	0	17195	827	29	2	7077	2	UTP20	12	101766734	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	22155401	101766734	32085161	195	61514											
PAH	5053	broad.mit.edu	37	chr12	103260425	103260425	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccgtcttgcacggtacAcaggatctttaaaaccctag	10	11	8	12	2	2	0	0	0	2	0	3	1	3	1	2	2	3	3	2	2	4	6			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:103260425A>C	ENST00000553106.1	-	5	930	c.458T>G	c.(457-459)gTg>gGg	p.V153G	PAH_ENST00000551988.1_Intron|PAH_ENST00000307000.2_Missense_Mutation_p.V148G	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	153					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TGCACGGTACACAGGATCTTT	0.468													6	37					0	0	0	0	C	103260425	A	C	103260425	3	2	331	1	0	0	0	0	1	0	0	0	11465	159	6	5	936	5	PAH	12	103260425	Missense_Mutation	SNP	A	TCGA-CV-A45Q-01A-11D-A24D-08	1493691	103260425	30591470	196	61515											
PAH	5053	broad.mit.edu	37	chr12	103260442	103260442	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacaggatctttaaaaccCtaggagaaaagagacacctg	17	7	8	9	0	1	2	0	0	1	2	1	5	1	3	2	2	2	0	2	2	6	4	rs62514907		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:103260442C>A	ENST00000553106.1	-	5	914		c.e5-1		PAH_ENST00000551988.1_Intron|PAH_ENST00000307000.2_Splice_Site	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase						catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTTAAAACCCTAGGAGAAAA	0.468													7	37					0.0381472	0.0387209	1	0	A	103260442	C	A	103260442	5	1	331	1	0	0	0	0	0	0	1	0	11465	695	24	4	953	4	PAH	12	103260442	Splice_Site	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	17	103260442	30591453	197	61516											
SDS	10993	broad.mit.edu	37	chr12	113836333	113836333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacataccagatgagggggtCatcaaaggggggaatgtaga	14	6	15	6	0	2	3	2	1	0	2	2	4	2	4	1	5	1	1	1	5	4	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:113836333C>A	ENST00000257549.4	-	5	534	c.412G>T	c.(412-414)Gac>Tac	p.D138Y		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	138					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ATGAGGGGGTCATCAAAGGGG	0.547													14	36					4.7546e-09	5.23265e-09	1	0	A	113836333	C	A	113836333	3	1	331	1	0	0	0	0	1	0	0	0	14062	826	29	2	590	2	SDS	12	113836333	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	10575891	113836333	20015562	198	61517											
KSR2	283455	broad.mit.edu	37	chr12	118198822	118198822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatcgcactcacttgggcGtgtgggcctcgtccacgcgg	4	8	14	15	6	1	0	1	0	0	0	4	1	2	0	3	3	0	1	3	3	0	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr12:118198822G>A	ENST00000425217.1	-	4	947	c.893C>T	c.(892-894)aCg>aTg	p.T298M	KSR2_ENST00000339824.5_Missense_Mutation_p.T327M	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	327					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCACTTGGGCGTGTGGGCCTC	0.652													21	37					0	0	0	0	A	118198822	G	A	118198822	3	1	331	1	0	0	0	0	1	0	0	0	8635	1145	40	1	1940	1	KSR2	12	118198822	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4362489	118198822	15653073	199	61518											
N6AMT2	221143	broad.mit.edu	37	chr13	21306231	21306231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagctctctgagtttctggTaaacactaggggcactcaca	11	10	9	11	0	3	1	1	1	2	0	4	1	3	1	0	3	2	4	0	3	3	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:21306231T>C	ENST00000382758.1	-	4	304	c.257A>G	c.(256-258)tAc>tGc	p.Y86C	N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y86C			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	86							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GAGTTTCTGGTAAACACTAGG	0.378													9	41					0	0	0	0	C	21306231	T	C	21306231	3	2	331	1	0	0	0	0	1	0	0	0	10185	1638	57	5	395	5	N6AMT2	13	21306231	Missense_Mutation	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08		21306231	93863647	200	61519											
MTUS2	23281	broad.mit.edu	37	chr13	30075261	30075261	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaacattatcctagaagaaAagatccaggttctccaacag	17	8	7	9	0	1	4	0	0	1	4	4	4	3	4	3	1	2	1	3	1	7	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:30075261A>G	ENST00000431530.3	+	13	3914	c.3856A>G	c.(3856-3858)Aag>Gag	p.K1286E	MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000542829.1_Missense_Mutation_p.K165E|MTUS2_ENST00000380808.2_Missense_Mutation_p.K255E	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1276						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTAGAAGAAAAGATCCAGGT	0.463													5	27					0	0	0	0	G	30075261	A	G	30075261	3	3	331	1	0	0	0	0	1	0	0	0	10036	15	1	5	3964	5	MTUS2	13	30075261	Missense_Mutation	SNP	A	TCGA-CV-A45Q-01A-11D-A24D-08	8769030	30075261	85094617	201	61520											
TRPC4	7223	broad.mit.edu	37	chr13	38211308	38211308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caccccgtgaagctaatcctCgagattccagttgaatattt	11	12	7	11	2	0	3	0	2	0	1	3	4	2	3	4	0	1	2	4	0	4	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:38211308C>G	ENST00000379705.3	-	11	3523	c.2666G>C	c.(2665-2667)cGa>cCa	p.R889P	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.R716P|TRPC4_ENST00000358477.2_Missense_Mutation_p.R805P|TRPC4_ENST00000379673.2_Missense_Mutation_p.R740P|TRPC4_ENST00000379679.1_Missense_Mutation_p.R716P|TRPC4_ENST00000355779.2_Missense_Mutation_p.R748P|TRPC4_ENST00000379681.3_Missense_Mutation_p.R894P|TRPC4_ENST00000447043.1_Missense_Mutation_p.R748P			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	889	Binds to ITPR1, ITPR2 and ITPR3.				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)		AGCTAATCCTCGAGATTCCAG	0.468													12	30					0	0	0	0	G	38211308	C	G	38211308	3	3	331	1	0	0	0	0	1	0	0	0	16675	884	31	3	271	3	TRPC4	13	38211308	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	8136047	38211308	76958570	202	61521											
ENOX1	55068	broad.mit.edu	37	chr13	43986078	43986078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagctgctgtccaggcaacCctacgggaaccatgcccagg	9	5	12	15	2	0	0	0	0	0	0	1	2	1	1	4	3	6	3	4	3	3	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:43986078C>A	ENST00000261488.6	-	5	759	c.182G>T	c.(181-183)gGg>gTg	p.G61V	ENOX1_ENST00000412891.1_Missense_Mutation_p.G61V	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	61					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TCCAGGCAACCCTACGGGAAC	0.552													19	26					8.34094e-07	8.93672e-07	1	0	A	43986078	C	A	43986078	3	1	331	1	0	0	0	0	1	0	0	0	5164	623	22	4	1801	4	ENOX1	13	43986078	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	5774770	43986078	71183800	203	61522											
INTS6	26512	broad.mit.edu	37	chr13	51961614	51961614	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatttggtctgacatataTgagtttgtgacagctatgcc	10	14	11	6	0	1	3	0	3	1	0	1	4	1	4	1	2	2	2	1	2	3	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:51961614T>A	ENST00000311234.4	-	7	1274	c.802A>T	c.(802-804)Ata>Tta	p.I268L	INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.I255L|INTS6_ENST00000497989.1_Missense_Mutation_p.I90L|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000463928.1_Missense_Mutation_p.I268L	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	268					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CTGACATATATGAGTTTGTGA	0.408													8	22					0	0	0	0	A	51961614	T	A	51961614	3	1	331	1	0	0	0	0	1	0	0	0	7835	1464	51	5	1909	5	INTS6	13	51961614	Missense_Mutation	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	7975536	51961614	63208264	204	61523											
DIS3	22894	broad.mit.edu	37	chr13	73345252	73345252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttaaggaacacaagttaGagctaagcaactctggaacc	16	9	8	8	0	1	1	0	0	1	1	1	3	1	3	1	2	5	3	1	2	7	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:73345252G>A	ENST00000377767.4	-	12	1737	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	DIS3_ENST00000545453.1_Missense_Mutation_p.S384F|DIS3_ENST00000377780.4_Missense_Mutation_p.S516F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	546					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ACACAAGTTAGAGCTAAGCAA	0.353										Multiple Myeloma(4;0.011)			4	10					0	0	0	0	A	73345252	G	A	73345252	3	1	331	1	0	0	0	0	1	0	0	0	4572	942	33	2	1279	2	DIS3	13	73345252	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	21383638	73345252	41824626	205	61524											
MYCBP2	23077	broad.mit.edu	37	chr13	77629732	77629732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acataatatgcatatctattCattgcatagccagctgggtc	12	13	7	9	0	2	0	1	0	1	0	3	0	2	0	1	1	4	3	1	1	5	7			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:77629732C>G	ENST00000407578.2	-	80	13874	c.13608G>C	c.(13606-13608)atG>atC	p.M4536I	MYCBP2_ENST00000544440.2_Missense_Mutation_p.M4498I|MYCBP2_ENST00000357337.6_Missense_Mutation_p.M4498I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CATATCTATTCATTGCATAGC	0.343													3	15					0	0	0	0	G	77629732	C	G	77629732	3	3	331	1	0	0	0	0	1	0	0	0	10088	826	29	2	444	2	MYCBP2	13	77629732	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	4284480	77629732	37540146	206	61525											
MCF2L	23263	broad.mit.edu	37	chr13	113742891	113742891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagaagccagccagcaccGggcgctggagcagtcacaga	11	2	14	14	3	1	2	1	0	0	2	1	3	1	3	3	2	4	4	3	2	1	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr13:113742891G>A	ENST00000397030.1	+	25	2919	c.2882G>A	c.(2881-2883)cGg>cAg	p.R961Q	MCF2L_ENST00000535094.2_Missense_Mutation_p.R928Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R932Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R985Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R934Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R958Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R932Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R926Q|MCF2L_ENST00000375608.3_Missense_Mutation_p.R958Q|MCF2L_ENST00000375597.4_Missense_Mutation_p.R926Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	958					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCCAGCACCGGGCGCTGGAG	0.657													4	14					0	0	0	0	A	113742891	G	A	113742891	3	1	331	1	0	0	0	0	1	0	0	0	9448	1116	39	1	3147	1	MCF2L	13	113742891	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	36113159	113742891	1426987	207	61526											
RNASE4	6038	broad.mit.edu	37	chr14	21167607	21167607	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctggggctggtccagccctCctatggccaggatggcatgt	5	9	15	12	0	0	0	0	0	0	0	2	1	2	1	4	6	1	3	4	6	1	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:21167607C>G	ENST00000555835.1	+	2	753	c.77C>G	c.(76-78)tCc>tGc	p.S26C	RNASE4_ENST00000555597.1_Missense_Mutation_p.S26C|AL163636.6_ENST00000553909.1_RNA|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Missense_Mutation_p.S26C|RNASE4_ENST00000304704.4_Missense_Mutation_p.S26C	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	26					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GTCCAGCCCTCCTATGGCCAG	0.557													76	81					0	0	0	0	G	21167607	C	G	21167607	3	3	331	1	0	0	0	0	1	0	0	0	13491	855	30	2	79	2	RNASE4	14	21167607	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08		21167607	86181933	208	61527											
CHD8	57680	broad.mit.edu	37	chr14	21867787	21867787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaagactccaatgagcagcGacttgtcagcctcactgtcc	11	9	8	13	1	2	2	2	1	0	1	4	3	4	2	3	0	3	1	3	0	3	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:21867787G>A	ENST00000399982.2	-	25	4959	c.4895C>T	c.(4894-4896)tCg>tTg	p.S1632L	CHD8_ENST00000557364.1_Missense_Mutation_p.S1632L|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.S1353L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1632					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.S1632L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATGAGCAGCGACTTGTCAGC	0.438													12	37					0	0	0	0	A	21867787	G	A	21867787	3	1	331	1	0	0	0	0	1	0	0	0	3360	1059	37	1	2902	1	CHD8	14	21867787	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	700180	21867787	85481753	209	61528											
MYH6	4624	broad.mit.edu	37	chr14	23863279	23863279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataatcacgtggcctcaccgCctgcacttggagctgcaggt	8	9	11	13	2	2	0	2	0	0	0	2	1	2	1	3	3	3	3	3	3	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:23863279C>T	ENST00000405093.3	-	21	2753	c.2683G>A	c.(2683-2685)Gcg>Acg	p.A895T	MYH6_ENST00000356287.3_Missense_Mutation_p.A895T	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	895					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGCCTCACCGCCTGCACTTGG	0.582													57	39					0	0	0	0	T	23863279	C	T	23863279	3	4	331	1	0	0	0	0	1	0	0	0	10108	739	26	4	3212	4	MYH6	14	23863279	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	1995492	23863279	83486261	210	61529											
RABGGTA	5875	broad.mit.edu	37	chr14	24737595	24737595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaatagctgctcgtctgtCgtggagtcccggcaccagcc	6	9	12	14	3	1	1	0	1	1	0	4	2	2	2	3	2	3	3	3	2	2	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:24737595C>T	ENST00000399409.3	-	10	1521	c.1038G>A	c.(1036-1038)acG>acA	p.T346T	RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000216840.6_Silent_p.T346T	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	346					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCTCGTCTGTCGTGGAGTCCC	0.622													13	53					0	0	0	0	T	24737595	C	T	24737595	2	4	331	1	0	0	0	0	0	0	0	1	13049	871	31	1		1	RABGGTA	14	24737595	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	874316	24737595	82611945	211	61530											
PPP2R3C	55012	broad.mit.edu	37	chr14	35579122	35579122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtctggtgtttgtccaGcaaaaaccataagttcttaa	11	14	9	7	0	2	0	0	0	2	0	3	0	3	0	2	2	2	3	2	2	4	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:35579122G>T	ENST00000261475.5	-	4	660	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	PPP2R3C_ENST00000555644.1_Missense_Mutation_p.L103M	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	103						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TGTTTGTCCAGCAAAAACCAT	0.358													11	63					1.08611e-07	1.17929e-07	1	0	T	35579122	G	T	35579122	3	4	331	1	0	0	0	0	1	0	0	0	12466	962	34	4	1094	4	PPP2R3C	14	35579122	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	10841527	35579122	71770418	212	61531											
SSTR1	6751	broad.mit.edu	37	chr14	38679099	38679099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaaggcggcccgctacCgccggcccaccgtggccaag	7	3	12	19	5	1	0	1	0	0	0	1	0	1	0	7	4	1	1	7	4	3	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:38679099C>T	ENST00000267377.2	+	3	1122	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	169					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GGCCCGCTACCGCCGGCCCAC	0.637													18	94					0	0	0	0	T	38679099	C	T	38679099	3	4	331	1	0	0	0	0	1	0	0	0	15287	652	23	1	507	1	SSTR1	14	38679099	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	3099977	38679099	68670441	213	61532											
FAM179B	23116	broad.mit.edu	37	chr14	45433482	45433482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttggctggtaacagaactCagagtgcacactgtcactgt	10	12	10	9	0	2	2	2	0	0	2	2	2	2	2	0	2	3	3	0	2	2	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:45433482C>G	ENST00000361462.2	+	1	2041	c.1858C>G	c.(1858-1860)Cag>Gag	p.Q620E	FAM179B_ENST00000361577.3_Missense_Mutation_p.Q620E|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.Q620E			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	620							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TAACAGAACTCAGAGTGCACA	0.498													44	40					0	0	0	0	G	45433482	C	G	45433482	3	3	331	1	0	0	0	0	1	0	0	0	5547	827	29	2	1860	2	FAM179B	14	45433482	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	6754383	45433482	61916058	214	61533											
SAMD4A	23034	broad.mit.edu	37	chr14	55218240	55218240	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaaagacaaaatctcctGaagtctttggaaagggtaag	18	8	10	5	0	2	3	0	1	2	2	3	4	2	4	1	2	0	1	1	2	7	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:55218240G>C	ENST00000251091.5	+	4	1202	c.897G>C	c.(895-897)ctG>ctC	p.L299L	SAMD4A_ENST00000554335.1_Silent_p.L387L|SAMD4A_ENST00000357634.3_Silent_p.L386L|SAMD4A_ENST00000392067.3_Silent_p.L387L	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	387					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AAAATCTCCTGAAGTCTTTGG	0.358													35	32					0	0	0	0	C	55218240	G	C	55218240	2	2	331	1	0	0	0	0	0	0	0	1	13906	1277	45	2		2	SAMD4A	14	55218240	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	9784758	55218240	52131300	215	61534											
YLPM1	56252	broad.mit.edu	37	chr14	75248748	75248748	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagttccagagaaacctagaCcagcactgcttcctactcct	12	9	6	14	0	0	2	0	0	0	2	3	3	3	2	5	0	4	3	5	0	4	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:75248748C>G	ENST00000325680.7	+	4	2126	c.2002C>G	c.(2002-2004)Cca>Gca	p.P668A	YLPM1_ENST00000238571.3_Missense_Mutation_p.P473A|YLPM1_ENST00000552421.1_Missense_Mutation_p.P668A	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAAACCTAGACCAGCACTGCT	0.522													11	47					0	0	0	0	G	75248748	C	G	75248748	3	3	331	1	0	0	0	0	1	0	0	0	17582	507	18	4	2016	4	YLPM1	14	75248748	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	20030508	75248748	32100792	216	61535											
YLPM1	56252	broad.mit.edu	37	chr14	75248853	75248853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacaagtgaattcaaaagctCctttgagcaagtctgctctg	13	11	8	9	0	3	2	1	2	2	0	4	2	4	2	1	0	4	3	1	0	6	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:75248853C>A	ENST00000325680.7	+	4	2231	c.2107C>A	c.(2107-2109)Cct>Act	p.P703T	YLPM1_ENST00000238571.3_Missense_Mutation_p.P508T|YLPM1_ENST00000552421.1_Missense_Mutation_p.P703T	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTCAAAAGCTCCTTTGAGCAA	0.488													13	47					0.0931896	0.0943544	1	0	A	75248853	C	A	75248853	3	1	331	1	0	0	0	0	1	0	0	0	17582	855	30	2	2121	2	YLPM1	14	75248853	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	105	75248853	32100687	217	61536											
NRXN3	9369	broad.mit.edu	37	chr14	80271515	80271515	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatgatgaagactttgttGaatgtgagccgagtacaggt	11	12	14	4	1	0	6	0	5	0	1	0	7	0	6	1	1	2	2	1	1	3	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:80271515G>C	ENST00000281127.7	+	5	1849	c.970G>C	c.(970-972)Gaa>Caa	p.E324Q	NRXN3_ENST00000335750.5_Missense_Mutation_p.E956Q|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000554719.1_Missense_Mutation_p.E956Q|NRXN3_ENST00000428277.2_Missense_Mutation_p.E354Q|NRXN3_ENST00000557594.1_Missense_Mutation_p.E324Q	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	324					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)		AGACTTTGTTGAATGTGAGCC	0.358													36	39					0	0	0	0	C	80271515	G	C	80271515	3	2	331	1	0	0	0	0	1	0	0	0	10738	1291	45	2	3265	2	NRXN3	14	80271515	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	5022662	80271515	27078025	218	61537											
PTPN21	11099	broad.mit.edu	37	chr14	88963635	88963635	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggcaatgtcatgccacCtaaagaacagcaaatagaga	16	8	9	8	0	1	2	1	0	0	2	1	3	1	2	2	1	3	3	2	1	6	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:88963635C>T	ENST00000556564.1	-	9	1049		c.e9-1		PTPN21_ENST00000328736.3_Splice_Site|PTPN21_ENST00000554628.1_Splice_Site	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21							cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCATGCCACCTAAAGAACAG	0.418													17	24					0	0	0	0	T	88963635	C	T	88963635	5	4	331	1	0	0	0	0	0	0	1	0	12868	695	24	4	2804	4	PTPN21	14	88963635	Splice_Site	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	8692120	88963635	18385905	219	61538											
RPS6KA5	9252	broad.mit.edu	37	chr14	91360786	91360786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccctgtgcaccactcCaacatcatgcatgtggctta	10	10	7	14	0	1	1	1	0	0	1	3	1	3	1	3	1	3	3	3	1	2	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:91360786C>T	ENST00000261991.3	-	13	1788	c.1615G>A	c.(1615-1617)Gga>Aga	p.G539R	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.G539R|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.G460R	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	539	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TGCACCACTCCAACATCATGC	0.438													12	70					0	0	0	0	T	91360786	C	T	91360786	3	4	331	1	0	0	0	0	1	0	0	0	13739	603	21	4	819	4	RPS6KA5	14	91360786	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2397151	91360786	15988754	220	61539											
RIN3	79890	broad.mit.edu	37	chr14	93151411	93151411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcacggtgacccggcagctGagtgtggaggtgcaggactc	8	7	16	10	2	1	2	1	2	0	0	2	4	1	4	1	5	2	3	1	5	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr14:93151411G>A	ENST00000216487.7	+	9	2706	c.2547G>A	c.(2545-2547)ctG>ctA	p.L849L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	849					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCCGGCAGCTGAGTGTGGAGG	0.637													19	61					0	0	0	0	A	93151411	G	A	93151411	2	1	331	1	0	0	0	0	0	0	0	1	13458	1277	45	2		2	RIN3	14	93151411	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	1790625	93151411	14198129	221	61540											
INO80	54617	broad.mit.edu	37	chr15	41276075	41276075	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgtcactgctgctctcGtccaggggaatggagccagt	8	9	13	11	1	2	0	1	0	1	0	4	2	3	2	2	3	4	3	2	3	1	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:41276075G>A	ENST00000361937.3	-	34	4546	c.4122C>T	c.(4120-4122)gaC>gaT	p.D1374D	INO80_ENST00000401393.3_Silent_p.D1374D			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1374	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGCTGCTCTCGTCCAGGGGAA	0.572													8	39					0	0	0	0	A	41276075	G	A	41276075	2	1	331	1	0	0	0	0	0	0	0	1	7799	1136	40	1		1	INO80	15	41276075	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08		41276075	61255317	222	61541											
DUOX1	53905	broad.mit.edu	37	chr15	45439714	45439714	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggccctgacctgtgagctGagcagggccgagtttgccga	7	7	16	11	2	0	3	0	3	0	0	0	6	0	3	4	2	3	3	4	2	0	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:45439714G>A	ENST00000321429.4	+	20	2813	c.2406G>A	c.(2404-2406)ctG>ctA	p.L802L	DUOX1_ENST00000561166.1_Silent_p.L448L|DUOX1_ENST00000389037.3_Silent_p.L802L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	802					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCTGTGAGCTGAGCAGGGCCG	0.622													7	10					0	0	0	0	A	45439714	G	A	45439714	2	1	331	1	0	0	0	0	0	0	0	1	4836	1277	45	2		2	DUOX1	15	45439714	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4163639	45439714	57091678	223	61542											
SEMA6D	80031	broad.mit.edu	37	chr15	48058088	48058088	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtgctgagaatgaggaaGacaaaaaggtcatctcatta	16	8	11	6	0	2	3	2	2	1	2	3	5	2	4	0	2	1	2	0	2	5	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:48058088G>C	ENST00000316364.5	+	14	1889	c.1450G>C	c.(1450-1452)Gac>Cac	p.D484H	SEMA6D_ENST00000354744.4_Missense_Mutation_p.D484H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.D484H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.D484H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.D484H|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D484H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D484H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.D484H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D484H|SEMA6D_ENST00000558014.1_Missense_Mutation_p.D484H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D484H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	484	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GAATGAGGAAGACAAAAAGGT	0.443													15	25					0	0	0	0	C	48058088	G	C	48058088	3	2	331	1	0	0	0	0	1	0	0	0	14129	942	33	2	1504	2	SEMA6D	15	48058088	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	2618374	48058088	54473304	224	61543											
MYO5A	4644	broad.mit.edu	37	chr15	52606036	52606036	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagagtctttcctgtctcGtaaacgcatctgagaagatt	10	12	11	8	2	3	3	0	1	3	3	5	5	4	3	1	1	1	2	1	1	3	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:52606036G>A	ENST00000399231.3	-	41	5668	c.5425C>T	c.(5425-5427)Cga>Tga	p.R1809*	MYO5A_ENST00000356338.6_Nonsense_Mutation_p.R1782*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.R1834*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.R1806*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.R1807*	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1809	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTCCTGTCTCGTAAACGCATC	0.393													15	30					0	0	0	0	A	52606036	G	A	52606036	4	1	331	1	0	0	0	0	0	1	0	0	10148	1153	40	1	146	1	MYO5A	15	52606036	Nonsense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4547948	52606036	49925356	225	61544											
VPS13C	54832	broad.mit.edu	37	chr15	62207862	62207862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaaaatgttcttcttcttGaaagaaaataaaataatatc	19	14	4	4	0	3	2	0	1	3	1	4	2	3	2	0	0	0	2	0	0	10	8			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:62207862G>C	ENST00000261517.5	-	61	8488	c.8415C>G	c.(8413-8415)ttC>ttG	p.F2805L	VPS13C_ENST00000249837.3_Missense_Mutation_p.F2762L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F2805L|VPS13C_ENST00000395898.3_Missense_Mutation_p.F2762L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2805					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTTCTTCTTGAAAGAAAATA	0.323													4	14					0	0	0	0	C	62207862	G	C	62207862	3	2	331	1	0	0	0	0	1	0	0	0	17287	1281	45	2	2974	2	VPS13C	15	62207862	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	9601826	62207862	40323530	226	61545											
TLN2	83660	broad.mit.edu	37	chr15	63073370	63073370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cactcctccagaaccaaaggGaacatttgtcgactatcaga	14	8	7	12	1	1	2	1	0	0	2	4	4	3	3	3	1	2	0	3	1	4	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:63073370G>C	ENST00000561311.1	+	43	5776	c.5546G>C	c.(5545-5547)gGa>gCa	p.G1849A	TLN2_ENST00000306829.6_Missense_Mutation_p.G1849A|TLN2_ENST00000472902.1_Missense_Mutation_p.G242A			Q9Y4G6	TLN2_HUMAN	talin 2	1849					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GAACCAAAGGGAACATTTGTC	0.478													8	29					0	0	0	0	C	63073370	G	C	63073370	3	2	331	1	0	0	0	0	1	0	0	0	16042	1174	41	2	5708	2	TLN2	15	63073370	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	865508	63073370	39458022	227	61546											
DIS3L	115752	broad.mit.edu	37	chr15	66618577	66618577	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcctggccaaccactgggtCgccaaaaagatctgggagag	12	6	12	11	1	1	2	0	0	1	2	3	3	2	2	4	3	1	0	4	3	3	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:66618577C>T	ENST00000319194.5	+	12	2088	c.1827C>T	c.(1825-1827)gtC>gtT	p.V609V	DIS3L_ENST00000319212.4_Silent_p.V692V|RP11-352G18.2_ENST00000565993.1_RNA	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	692					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			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						ACCACTGGGTCGCCAAAAAGA	0.542													15	42					0	0	0	0	T	66618577	C	T	66618577	2	4	331	1	0	0	0	0	0	0	0	1	4573	871	31	1		1	DIS3L	15	66618577	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	3545207	66618577	35912815	228	61547											
SMAD3	4088	broad.mit.edu	37	chr15	67358682	67358682	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagaacgtcaacaccaagTgcatcaccatccccaggtgg	12	5	9	15	2	2	1	2	0	0	1	3	1	3	1	4	2	3	2	4	2	3	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:67358682T>A	ENST00000327367.4	+	1	500	c.190T>A	c.(190-192)Tgc>Agc	p.C64S		NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	64	MH1.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CAACACCAAGTGCATCACCAT	0.682													8	10					0	0	0	0	A	67358682	T	A	67358682	3	1	331	1	0	0	0	0	1	0	0	0	14847	1696	59	5	192	5	SMAD3	15	67358682	Missense_Mutation	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	740105	67358682	35172710	229	61548											
UACA	55075	broad.mit.edu	37	chr15	70961694	70961694	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcattgcttctaactctttCtttaaaatttcattttcaga	10	19	3	9	1	5	1	2	0	3	1	5	1	5	1	0	0	2	2	0	0	3	9			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:70961694C>G	ENST00000322954.6	-	16	1514	c.1329G>C	c.(1327-1329)aaG>aaC	p.K443N	UACA_ENST00000560441.1_Missense_Mutation_p.K428N|UACA_ENST00000539319.1_Missense_Mutation_p.K334N|UACA_ENST00000379983.2_Missense_Mutation_p.K430N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	443						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTAACTCTTTCTTTAAAATTT	0.413													14	41					0	0	0	0	G	70961694	C	G	70961694	3	3	331	1	0	0	0	0	1	0	0	0	16920	912	32	2	2937	2	UACA	15	70961694	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	3603012	70961694	31569698	230	61549											
MAN2A2	4122	broad.mit.edu	37	chr15	91461609	91461609	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgctcaacctacgtacgctCcaggctgaggtgagtgtccc	7	9	11	14	2	1	2	1	2	0	0	3	2	3	2	3	2	4	4	3	2	3	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:91461609C>G	ENST00000360468.3	+	20	3198	c.3180C>G	c.(3178-3180)ctC>ctG	p.L1060L	MAN2A2_ENST00000559717.1_Silent_p.L1060L|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000430376.2_Silent_p.L250L|MAN2A2_ENST00000431652.2_Silent_p.L568L	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1060					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TACGTACGCTCCAGGCTGAGG	0.592													19	43					0	0	0	0	G	91461609	C	G	91461609	2	3	331	1	0	0	0	0	0	0	0	1	9284	842	30	2		2	MAN2A2	15	91461609	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	20499915	91461609	11069783	231	61550											
LRRK1	79705	broad.mit.edu	37	chr15	101605686	101605686	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtccaagttcagcatcGcggatgaagacgcacggcag	12	5	13	11	4	1	2	1	1	0	1	3	3	2	3	1	3	1	4	1	3	2	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr15:101605686G>C	ENST00000284395.5	+	33	5435	c.5035G>C	c.(5035-5037)Gcg>Ccg	p.A1679P	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.A1682P|LRRK1_ENST00000532145.1_3'UTR			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1682					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A1682T(1)|p.A1694T(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTTCAGCATCGCGGATGAAGA	0.612													19	73					0	0	0	0	C	101605686	G	C	101605686	3	2	331	1	0	0	0	0	1	0	0	0	9096	1087	38	3	5166	3	LRRK1	15	101605686	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	10144077	101605686	925706	232	61551											
TSC2	7249	broad.mit.edu	37	chr16	2111962	2111962	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaacgagttccacgggtctCaggagagatactttgaactg	12	9	12	8	2	1	3	1	1	1	2	3	6	2	4	1	2	3	1	1	2	3	3	rs45457701		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:2111962C>T	ENST00000219476.3	+	12	1840	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	TSC2_ENST00000401874.2_Nonsense_Mutation_p.Q404*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.Q404*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.Q355*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.Q415*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.Q367*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.Q404*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	404					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCACGGGTCTCAGGAGAGATA	0.617			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				13	44					0	0	0	0	T	2111962	C	T	2111962	4	4	331	1	0	0	0	0	0	1	0	0	16701	827	29	2	1252	2	TSC2	16	2111962	Nonsense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08		2111962	88242791	233	61552											
NLRC3	197358	broad.mit.edu	37	chr16	3594162	3594163	+	RNA	INS	-	-	A																															gcaagactcttgtctcgaggINSaaaaaaaaaaaaaaaaagac																								rs60164526		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:3594162_3594163insA	ENST00000301749.7	-	0	3261				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ttgtctcgaggaaaaaaaaaaa	0.49													2	4	---	---	---	---					A	3594163	-	A	3594162	6	5	331	0	1	1	1	0	0	0	0	0	10538	1189	41	0		0	NLRC3	16	3594162	RNA	INS	-	TCGA-CV-A45Q-01A-11D-A24D-08	1482200	3594162	86760591	234	61553											
USP7	7874	broad.mit.edu	37	chr16	8999176	8999176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttgacaccacgtcgtcatCaaatttacaccactgcaagg	12	9	6	14	2	2	1	2	1	0	0	3	1	2	1	3	1	2	1	3	1	3	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:8999176C>G	ENST00000344836.4	-	14	1639	c.1441G>C	c.(1441-1443)Gat>Cat	p.D481H	USP7_ENST00000535863.1_Missense_Mutation_p.D382H|USP7_ENST00000381886.4_Missense_Mutation_p.D465H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	481					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACGTCGTCATCAAATTTACAC	0.458											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	40					0	0	0	0	G	8999176	C	G	8999176	3	3	331	1	0	0	0	0	1	0	0	0	17184	826	29	2	1939	2	USP7	16	8999176	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	5405014	8999176	81355577	235	61554											
SRCAP	10847	broad.mit.edu	37	chr16	30748845	30748845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcacagattcctccttgttCttctcctgcctgcacccctc	4	15	4	18	0	3	1	1	0	2	1	7	1	5	1	6	0	2	2	6	0	0	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:30748845C>G	ENST00000262518.4	+	34	7869	c.7484C>G	c.(7483-7485)tCt>tGt	p.S2495C	SRCAP_ENST00000344771.4_Missense_Mutation_p.S2337C|SRCAP_ENST00000395059.2_Missense_Mutation_p.S2433C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2495	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			cctccttgttcttctcctgcc	0.547													10	20					0	0	0	0	G	30748845	C	G	30748845	3	3	331	1	0	0	0	0	1	0	0	0	15225	913	32	2	7610	2	SRCAP	16	30748845	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	21749669	30748845	59605908	236	61555											
TGFB1I1	7041	broad.mit.edu	37	chr16	31487352	31487352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgacggctctgggccGcgcctggcaccccgagcact	4	6	16	15	4	1	1	0	1	1	0	1	2	1	1	4	5	1	3	4	5	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:31487352G>A	ENST00000394863.3	+	8	864	c.734G>A	c.(733-735)cGc>cAc	p.R245H	TGFB1I1_ENST00000394858.2_Missense_Mutation_p.R228H|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.R228H|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.R228H	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	245	LIM zinc-binding 1.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCTCTGGGCCGCGCCTGGCAC	0.652													12	60					0	0	0	0	A	31487352	G	A	31487352	3	1	331	1	0	0	0	0	1	0	0	0	15911	1087	38	1	764	1	TGFB1I1	16	31487352	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	738507	31487352	58867401	237	61556											
IRX6	79190	broad.mit.edu	37	chr16	55360337	55360337	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctccaccccagcgccCgctctctgctgcgcacccta	5	7	8	21	3	2	0	1	0	1	0	4	0	3	0	5	1	3	4	5	1	1	1	rs139857215	byFrequency	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:55360337C>T	ENST00000290552.7	+	2	1467	c.135C>T	c.(133-135)ccC>ccT	p.P45P	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	45						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCCCAGCGCCCGCTCTCTGCT	0.637													10	35					0	0	0	0	T	55360337	C	T	55360337	2	4	331	1	0	0	0	0	0	0	0	1	7901	639	23	1		1	IRX6	16	55360337	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	23872985	55360337	34994416	238	61557											
CNGB1	1258	broad.mit.edu	37	chr16	57973370	57973370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcggcctcagcctcaggctCctccttggtctccgcccagt	3	10	9	19	2	3	0	2	0	1	0	7	0	5	0	6	3	1	1	6	3	0	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:57973370C>T	ENST00000564448.1	-	16	1378	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	CNGB1_ENST00000251102.8_Missense_Mutation_p.E446K|CNGB1_ENST00000564654.1_5'UTR			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	446					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCTCAGGctcctccttggtc	0.617													5	31					0	0	0	0	T	57973370	C	T	57973370	3	4	331	1	0	0	0	0	1	0	0	0	3630	864	30	2	2491	2	CNGB1	16	57973370	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2613033	57973370	32381383	239	61558											
MMP15	4324	broad.mit.edu	37	chr16	58076194	58076194	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacaactatcccatgcccatCgggcacttctggcgtggtct	7	10	10	14	2	2	0	0	0	2	0	4	1	3	0	2	3	2	1	2	3	2	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:58076194C>T	ENST00000219271.3	+	7	2009	c.1224C>T	c.(1222-1224)atC>atT	p.I408I		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	408	Hemopexin-like 1.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CCATGCCCATCGGGCACTTCT	0.612													12	36					0	0	0	0	T	58076194	C	T	58076194	2	4	331	1	0	0	0	0	0	0	0	1	9723	874	31	1		1	MMP15	16	58076194	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	102824	58076194	32278559	240	61559											
RFWD3	55159	broad.mit.edu	37	chr16	74678518	74678518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcccacagcgtaatgctGagagccggtggtccccagca	9	6	13	13	2	0	1	0	1	0	1	1	3	1	1	4	2	5	3	4	2	1	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:74678518G>A	ENST00000361070.4	-	5	1005	c.908C>T	c.(907-909)tCa>tTa	p.S303L	RFWD3_ENST00000571750.1_Missense_Mutation_p.S303L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	303					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCGTAATGCTGAGAGCCGGTG	0.502													7	37					0	0	0	0	A	74678518	G	A	74678518	3	1	331	1	0	0	0	0	1	0	0	0	13343	1294	45	2	1452	2	RFWD3	16	74678518	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	16602324	74678518	15676235	241	61560											
RFWD3	55159	broad.mit.edu	37	chr16	74683082	74683082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtaacttcttgctctgctGagacacctgctagttgctct	7	15	8	11	0	3	1	0	1	3	1	3	2	3	1	1	0	5	6	1	0	2	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:74683082G>A	ENST00000361070.4	-	4	837	c.740C>T	c.(739-741)tCa>tTa	p.S247L	RFWD3_ENST00000571750.1_Missense_Mutation_p.S247L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	247					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TTGCTCTGCTGAGACACCTGC	0.368													8	22					0	0	0	0	A	74683082	G	A	74683082	3	1	331	1	0	0	0	0	1	0	0	0	13343	1294	45	2	1624	2	RFWD3	16	74683082	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4564	74683082	15671671	242	61561											
WDR59	79726	broad.mit.edu	37	chr16	74957842	74957842	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtgtatctggccttccaGacaggcacctggcaaggaag	10	8	12	11	0	1	1	0	0	1	1	2	2	2	2	3	4	0	3	3	4	3	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:74957842G>C	ENST00000262144.6	-	9	841	c.711C>G	c.(709-711)gtC>gtG	p.V237V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	237										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TGGCCTTCCAGACAGGCACCT	0.463													4	9					0	0	0	0	C	74957842	G	C	74957842	2	2	331	1	0	0	0	0	0	0	0	1	17404	929	33	2		2	WDR59	16	74957842	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	274760	74957842	15396911	243	61562											
GAS8	2622	broad.mit.edu	37	chr16	90103732	90103732	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagcgcctggcagaccctctCcagaaggctcgggaggagat	10	5	14	12	2	1	3	0	0	1	3	3	5	1	4	3	4	1	2	3	4	2	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr16:90103732C>G	ENST00000268699.4	+	7	971	c.849C>G	c.(847-849)ctC>ctG	p.L283L	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.L258L	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	283					negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		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;0.029)		CAGACCCTCTCCAGAAGGCTC	0.587													7	12					0	0	0	0	G	90103732	C	G	90103732	2	3	331	1	0	0	0	0	0	0	0	1	6300	842	30	2		2	GAS8	16	90103732	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	15145890	90103732	251021	244	61563											
SMG6	23293	broad.mit.edu	37	chr17	2202460	2202460	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtagggcccactgggtaCtgtagagggttatagcccgt	7	11	14	9	2	0	1	0	0	0	1	1	1	0	1	2	3	2	4	2	3	5	6			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:2202460C>T	ENST00000544865.1	-	2	2004	c.1494G>A	c.(1492-1494)caG>caA	p.Q498Q	SMG6_ENST00000263073.5_Silent_p.Q529Q			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	529	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCACTGGGTACTGTAGAGGGT	0.532													41	103					0	0	0	0	T	2202460	C	T	2202460	2	4	331	1	0	0	0	0	0	0	0	1	14885	564	20	4		4	SMG6	17	2202460	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08		2202460	78992750	245	61564											
OR1A2	26189	broad.mit.edu	37	chr17	3101367	3101367	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgacattatgcctttgctGaagttgtcctgttctgacgt	6	17	10	8	1	1	3	0	3	1	0	2	3	2	3	2	0	2	3	2	0	2	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:3101367G>C	ENST00000381951.1	+	1	555	c.555G>C	c.(553-555)ctG>ctC	p.L185L		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TGCCTTTGCTGAAGTTGTCCT	0.463													18	73					0	0	0	0	C	3101367	G	C	3101367	2	2	331	1	0	0	0	0	0	0	0	1	11021	1277	45	2		2	OR1A2	17	3101367	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	898907	3101367	78093843	246	61565											
TP53	7157	broad.mit.edu	37	chr17	7579722	7579722	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacgttgttttcaggaagtCtgaaagacaagagcagaaag	16	8	12	5	1	2	4	1	1	1	3	2	6	2	5	0	1	2	3	0	1	5	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:7579722C>G	ENST00000420246.2	-	3	207		c.e3-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L26fs*18(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAGGAAGTCTGAAAGACAA	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	32					0	0	0	0	G	7579722	C	G	7579722	5	3	331	1	0	0	0	0	0	0	1	0	16476	927	32	2	1232	2	TP53	17	7579722	Splice_Site	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	4478355	7579722	73615488	247	61566											
PIK3R5	23533	broad.mit.edu	37	chr17	8784301	8784301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgttggagccgatgatctGcaccttgtccactttgatct	6	14	10	11	1	2	2	0	2	2	0	3	4	3	3	3	1	2	3	3	1	0	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:8784301G>T	ENST00000447110.1	-	18	2540	c.2416C>A	c.(2416-2418)Cag>Aag	p.Q806K	PIK3R5_ENST00000584803.1_Missense_Mutation_p.Q805K|PIK3R5_ENST00000581552.1_Missense_Mutation_p.Q806K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	806					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCGATGATCTGCACCTTGTCC	0.572													12	42					0.00010058	0.000105258	1	0	T	8784301	G	T	8784301	3	4	331	1	0	0	0	0	1	0	0	0	11994	1328	46	4	234	4	PIK3R5	17	8784301	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	1204579	8784301	72410909	248	61567											
MYH1	4619	broad.mit.edu	37	chr17	10415996	10415996	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaaattcatgtataacttAcatctgtagccatcaactct	14	15	3	9	0	4	0	2	0	2	0	4	0	4	0	1	0	4	2	1	0	7	6			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:10415996A>T	ENST00000226207.5	-	11	1103		c.e11+1		CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult							muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTATAACTTACATCTGTAGC	0.393													17	72					0	0	0	0	T	10415996	A	T	10415996	5	4	331	1	0	0	0	0	0	0	1	0	10099	405	14	5	4929	5	MYH1	17	10415996	Splice_Site	SNP	A	TCGA-CV-A45Q-01A-11D-A24D-08	1631695	10415996	70779214	249	61568											
MYOCD	93649	broad.mit.edu	37	chr17	12647665	12647665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgctccagcaacagcagCtgttcctgcagctccaaatc	9	8	9	15	0	0	0	0	0	0	0	4	0	3	0	3	1	7	8	3	1	2	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:12647665C>A	ENST00000425538.1	+	8	1083	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	MYOCD_ENST00000395988.1_Missense_Mutation_p.L199M|MYOCD_ENST00000343344.4_Missense_Mutation_p.L295M	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	295	Gln-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCAACAGCAGCTGTTCCTGCA	0.552													14	26					4.3838e-07	4.72191e-07	1	0	A	12647665	C	A	12647665	3	1	331	1	0	0	0	0	1	0	0	0	10157	796	28	4	913	4	MYOCD	17	12647665	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2231669	12647665	68547545	250	61569											
UBB	7314	broad.mit.edu	37	chr17	16285800	16285800	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatcccccccgaccagcaGaggctcatctttgcaggcaa	9	6	10	16	1	2	1	1	0	1	1	3	2	3	1	4	3	2	5	4	3	1	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:16285800G>A	ENST00000302182.3	+	2	971	c.579G>A	c.(577-579)caG>caA	p.Q193Q	UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.Q117Q|UBB_ENST00000395837.1_Silent_p.Q193Q|UBB_ENST00000395839.1_Silent_p.Q193Q|RP11-138I1.4_ENST00000583934.1_RNA	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	193	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CCGACCAGCAGAGGCTCATCT	0.562													15	47					0	0	0	0	A	16285800	G	A	16285800	2	1	331	1	0	0	0	0	0	0	0	1	16937	933	33	2		2	UBB	17	16285800	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	3638135	16285800	64909410	251	61570											
ZNF624	57547	broad.mit.edu	37	chr17	16527527	16527527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaattttcctcttgtgtttGgcatctgctgtgaagctctt	6	18	9	8	0	3	1	0	1	3	0	4	2	4	1	1	1	2	4	1	1	2	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:16527527G>C	ENST00000311331.7	-	6	764	c.673C>G	c.(673-675)Caa>Gaa	p.Q225E		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCTTGTGTTTGGCATCTGCTG	0.398													11	33					0	0	0	0	C	16527527	G	C	16527527	3	2	331	1	0	0	0	0	1	0	0	0	18143	1357	47	4	1928	4	ZNF624	17	16527527	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	241727	16527527	64667683	252	61571											
RASD1	51655	broad.mit.edu	37	chr17	17399376	17399376	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggtgaggaagcgcgacacGatggccgtcttgcccacctt	7	7	13	14	5	1	1	0	1	1	0	1	4	1	2	4	3	2	0	4	3	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:17399376G>A	ENST00000225688.3	-	1	331	c.120C>T	c.(118-120)atC>atT	p.I40I	RASD1_ENST00000579152.1_Silent_p.I40I	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	40					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						AGCGCGACACGATGGCCGTCT	0.617													24	48					0	0	0	0	A	17399376	G	A	17399376	2	1	331	1	0	0	0	0	0	0	0	1	13148	1048	37	1		1	RASD1	17	17399376	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	871849	17399376	63795834	253	61572											
SYNRG	11276	broad.mit.edu	37	chr17	35932001	35932001	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaagagtttccctgggaagCccagatgacatcagaatggg	12	7	12	10	0	1	4	1	1	0	3	2	5	2	5	3	2	1	1	3	2	3	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:35932001C>T	ENST00000339208.6	-	9	1127	c.987G>A	c.(985-987)ggG>ggA	p.G329G	SYNRG_ENST00000394378.2_Silent_p.G251G|SYNRG_ENST00000591288.1_Silent_p.G251G|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Silent_p.G250G|SYNRG_ENST00000502449.2_Silent_p.G251G|SYNRG_ENST00000346661.4_Silent_p.G329G|SYNRG_ENST00000345615.4_Silent_p.G251G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	329	EH.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCTGGGAAGCCCAGATGACA	0.403													15	42					0	0	0	0	T	35932001	C	T	35932001	2	4	331	1	0	0	0	0	0	0	0	1	15551	726	26	4		4	SYNRG	17	35932001	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	18532625	35932001	45263209	254	61573											
ZPBP2	124626	broad.mit.edu	37	chr17	38027760	38027760	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaactggacagctgatggtGaaagattttttggagccttt	11	13	12	5	0	0	3	0	2	0	1	0	6	0	5	1	3	3	1	1	3	2	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:38027760G>C	ENST00000377940.3	+	3	361	c.222G>C	c.(220-222)gtG>gtC	p.V74V	ZPBP2_ENST00000348931.4_Silent_p.V96V|ZPBP2_ENST00000584588.1_Silent_p.V96V	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	96					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCTGATGGTGAAAGATTTTT	0.284													9	26					0	0	0	0	C	38027760	G	C	38027760	2	2	331	1	0	0	0	0	0	0	0	1	18313	1277	45	2		2	ZPBP2	17	38027760	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	2095759	38027760	43167450	255	61574											
KCNH4	23415	broad.mit.edu	37	chr17	40312144	40312144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctggcactggagagggtcCcagagggtcaggctctgagg	7	7	17	10	0	3	3	1	1	2	2	4	4	4	3	1	6	0	2	1	6	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:40312144C>G	ENST00000264661.3	-	16	3300	c.2968G>C	c.(2968-2970)Gga>Cga	p.G990R	KCNH4_ENST00000607371.1_Missense_Mutation_p.G990R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	990					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGAGAGGGTCCCAGAGGGTCA	0.632													18	39					0	0	0	0	G	40312144	C	G	40312144	3	3	331	1	0	0	0	0	1	0	0	0	8087	632	22	4	89	4	KCNH4	17	40312144	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2284384	40312144	40883066	256	61575											
C1QL1	10882	broad.mit.edu	37	chr17	43037675	43037675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtccaggtgcaggatcaCgctgttgctggcgtagtcgt	5	10	16	10	4	1	0	1	0	0	0	3	1	2	1	1	4	2	5	1	4	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:43037675C>T	ENST00000253407.3	-	2	680	c.658G>A	c.(658-660)Gtg>Atg	p.V220M		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	220	C1q.				locomotory behavior	collagen				lung(1)|prostate(1)	2		Prostate(33;0.155)				TGCAGGATCACGCTGTTGCTG	0.622													22	43					0	0	0	0	T	43037675	C	T	43037675	3	4	331	1	0	0	0	0	1	0	0	0	1977	536	19	1	122	1	C1QL1	17	43037675	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2725531	43037675	38157535	257	61576											
TBKBP1	9755	broad.mit.edu	37	chr17	45776755	45776755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctagaagaggctttggaggCcgcgcagggagaggcccggg	8	4	20	9	3	0	3	0	0	0	3	0	5	0	4	2	6	0	3	2	6	2	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:45776755C>A	ENST00000361722.3	+	5	1553	c.704C>A	c.(703-705)gCc>gAc	p.A235D		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	235					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GCTTTGGAGGCCGCGCAGGGA	0.711											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	10					1	1	1	0	A	45776755	C	A	45776755	3	1	331	1	0	0	0	0	1	0	0	0	15732	739	26	4	722	4	TBKBP1	17	45776755	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2739080	45776755	35418455	258	61577											
SSTR2	6752	broad.mit.edu	37	chr17	71166180	71166180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtgaagtcctctggaatccGagtgggctcctctaagagga	9	9	14	9	1	2	2	0	1	2	1	5	5	5	4	3	4	0	1	3	4	3	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:71166180G>C	ENST00000357585.2	+	2	1091	c.722G>C	c.(721-723)cGa>cCa	p.R241P	SSTR2_ENST00000315332.2_Missense_Mutation_p.R241P|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	241					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTGGAATCCGAGTGGGCTCC	0.483													17	82					0	0	0	0	C	71166180	G	C	71166180	3	2	331	1	0	0	0	0	1	0	0	0	15288	1058	37	3	724	3	SSTR2	17	71166180	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	25389425	71166180	10029030	259	61578											
CDC42EP4	23580	broad.mit.edu	37	chr17	71281756	71281756	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgcccatgctgcgggctGagccggggctgggggccgct	2	6	20	13	3	0	1	0	1	0	0	0	1	0	1	3	6	4	5	3	6	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:71281756G>C	ENST00000335793.3	-	2	1278	c.884C>G	c.(883-885)tCa>tGa	p.S295*	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Nonsense_Mutation_p.S225*			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	295					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GCTGCGGGCTGAGCCGGGGCT	0.711													9	23					0	0	0	0	C	71281756	G	C	71281756	4	2	331	1	0	0	0	0	0	1	0	0	3107	1294	45	2	190	2	CDC42EP4	17	71281756	Nonsense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	115576	71281756	9913454	260	61579											
ZACN	353174	broad.mit.edu	37	chr17	74076447	74076447	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aactgcaactttgagctcctCcacttcccccgggaccacag	9	8	7	17	1	0	1	0	1	0	0	3	2	3	2	5	1	4	2	5	1	2	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:74076447C>G	ENST00000334586.5	+	5	569	c.486C>G	c.(484-486)ctC>ctG	p.L162L	ZACN_ENST00000392503.2_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	162					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.L161L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						TTGAGCTCCTCCACTTCCCCC	0.642													17	53					0	0	0	0	G	74076447	C	G	74076447	2	3	331	1	0	0	0	0	0	0	0	1	17606	842	30	2		2	ZACN	17	74076447	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2794691	74076447	7118763	261	61580											
SOCS3	9021	broad.mit.edu	37	chr17	76354722	76354722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccagggagtggctgggcaGacggctgctcgggcacctcg	5	6	17	13	3	0	1	0	0	0	1	3	2	1	2	2	5	1	5	2	5	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:76354722G>A	ENST00000330871.2	-	2	870	c.455C>T	c.(454-456)tCt>tTt	p.S152F		NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	152					anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			TGGCTGGGCAGACGGCTGCTC	0.662													11	25					0	0	0	0	A	76354722	G	A	76354722	3	1	331	1	0	0	0	0	1	0	0	0	15003	942	33	2	226	2	SOCS3	17	76354722	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	2278275	76354722	4840488	262	61581											
RPTOR	57521	broad.mit.edu	37	chr17	78897295	78897295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcttccaatggcaggggctCccctccggcgtccagcacca	6	8	10	17	2	1	0	0	0	1	0	5	0	5	0	6	4	1	3	6	4	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr17:78897295C>T	ENST00000306801.3	+	23	2992	c.2630C>T	c.(2629-2631)tCc>tTc	p.S877F	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.S719F	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	877					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCAGGGGCTCCCCTCCGGCG	0.632													8	24					0	0	0	0	T	78897295	C	T	78897295	3	4	331	1	0	0	0	0	1	0	0	0	13750	855	30	2	2720	2	RPTOR	17	78897295	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2542573	78897295	2297915	263	61582											
TYMS	7298	broad.mit.edu	37	chr18	670729	670729	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctccatgccatgccctCtgccagttctatgtggtgaa	6	12	9	14	0	2	1	0	1	2	0	3	1	3	1	5	1	4	1	5	1	2	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:670729C>A	ENST00000323274.10	+	5	733	c.594C>A	c.(592-594)ctC>ctA	p.L198L	TYMS_ENST00000323224.7_Silent_p.L164L|TYMS_ENST00000323250.5_Silent_p.L115L|TYMS_ENST00000581920.1_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	198					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	p.L198L(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	GCCATGCCCTCTGCCAGTTCT	0.557													21	64					2.89027e-11	3.18953e-11	1	0	A	670729	C	A	670729	2	1	331	1	0	0	0	0	0	0	0	1	16908	900	32	2		2	TYMS	18	670729	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08		670729	77406519	264	61583											
SMCHD1	23347	broad.mit.edu	37	chr18	2700874	2700874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatcttgagctaaaattGaaagataagaacaccctttt	16	12	7	6	0	1	4	0	2	1	2	1	5	1	5	1	1	2	1	1	1	5	6			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:2700874G>T	ENST00000320876.6	+	12	1943	c.1605G>T	c.(1603-1605)ttG>ttT	p.L535F	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.L535F	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	535					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGCTAAAATTGAAAGATAAGA	0.279													6	19					0.0215528	0.0219871	1	0	T	2700874	G	T	2700874	3	4	331	1	0	0	0	0	1	0	0	0	14876	1281	45	2	1651	2	SMCHD1	18	2700874	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	2030145	2700874	75376374	265	61584											
ASXL3	80816	broad.mit.edu	37	chr18	31324706	31324706	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggttcaagtaaacaaaaaGaatatctagagcaaagctgt	18	8	9	6	1	2	2	1	0	1	2	2	2	2	2	0	1	3	4	0	1	9	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:31324706G>C	ENST00000269197.5	+	12	4894	c.4894G>C	c.(4894-4896)Gaa>Caa	p.E1632Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TAAACAAAAAGAATATCTAGA	0.428											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	15					0	0	0	0	C	31324706	G	C	31324706	3	2	331	1	0	0	0	0	1	0	0	0	1072	943	33	2	4940	2	ASXL3	18	31324706	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	28623832	31324706	46752542	266	61585											
DTNA	1837	broad.mit.edu	37	chr18	32386188	32386188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attaccattaaacagggaagGccatggtaaaatttcagtat	16	11	8	6	0	1	0	1	0	0	0	1	1	1	1	2	3	2	2	2	3	7	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:32386188G>T	ENST00000283365.9	+	6	719	c.368G>T	c.(367-369)gGc>gTc	p.G123V	DTNA_ENST00000598774.1_Missense_Mutation_p.G123V|DTNA_ENST00000597599.1_Missense_Mutation_p.G123V|DTNA_ENST00000554864.3_Missense_Mutation_p.G123V|DTNA_ENST00000598142.1_Missense_Mutation_p.G123V|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000315456.6_Missense_Mutation_p.G123V|DTNA_ENST00000444659.1_Missense_Mutation_p.G123V|DTNA_ENST00000596745.1_Missense_Mutation_p.G123V|DTNA_ENST00000269191.6_Missense_Mutation_p.G123V|DTNA_ENST00000348997.5_Missense_Mutation_p.G123V|DTNA_ENST00000598334.1_Missense_Mutation_p.G123V|DTNA_ENST00000399113.3_Missense_Mutation_p.G123V|DTNA_ENST00000269190.7_Missense_Mutation_p.G123V|DTNA_ENST00000399121.5_Missense_Mutation_p.G123V|DTNA_ENST00000595022.1_Missense_Mutation_p.G123V	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	123	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AACAGGGAAGGCCATGGTAAA	0.338													4	15					0.150653	0.151401	1	0	T	32386188	G	T	32386188	3	4	331	1	0	0	0	0	1	0	0	0	4824	1203	42	4	382	4	DTNA	18	32386188	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	1061482	32386188	45691060	267	61586											
DCC	1630	broad.mit.edu	37	chr18	50278720	50278720	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctggctcaattattagtCggacagcaaaagttgcagta	13	12	9	7	1	2	0	1	0	1	0	3	1	2	1	0	2	2	5	0	2	6	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:50278720C>A	ENST00000442544.2	+	2	1004	c.388C>A	c.(388-390)Cgg>Agg	p.R130R	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	130	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AATTATTAGTCGGACAGCAAA	0.423													11	36					0.00010058	0.000105258	1	0	A	50278720	C	A	50278720	2	1	331	1	0	0	0	0	0	0	0	1	4314	875	31	3		3	DCC	18	50278720	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	17892532	50278720	27798528	268	61587											
CDH20	28316	broad.mit.edu	37	chr18	59203765	59203765	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgaccctggaagatttttCtatgttgacattacaacagg	12	13	9	7	0	1	3	0	2	1	1	1	4	1	4	1	2	2	1	1	2	4	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:59203765C>G	ENST00000262717.4	+	8	1709	c.1311C>G	c.(1309-1311)ttC>ttG	p.F437L	CDH20_ENST00000536675.2_Missense_Mutation_p.F437L|CDH20_ENST00000538374.1_Missense_Mutation_p.F437L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	437	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAAGATTTTTCTATGTTGACA	0.413													25	54					0	0	0	0	G	59203765	C	G	59203765	3	3	331	1	0	0	0	0	1	0	0	0	3135	912	32	2	1337	2	CDH20	18	59203765	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	8925045	59203765	18873483	269	61588											
SERPINB10	5273	broad.mit.edu	37	chr18	61585204	61585204	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttctcttttaaaggaattCaacttgagcaactcggaaga	13	12	7	9	1	2	2	1	1	1	1	4	4	2	4	1	2	3	1	1	2	6	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:61585204C>G	ENST00000238508.3	+	4	299	c.240C>G	c.(238-240)ttC>ttG	p.F80L		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TAAAGGAATTCAACTTGAGCA	0.348													6	19					0	0	0	0	G	61585204	C	G	61585204	3	3	331	1	0	0	0	0	1	0	0	0	14184	825	29	2	250	2	SERPINB10	18	61585204	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2381439	61585204	16492044	270	61589											
CBLN2	147381	broad.mit.edu	37	chr18	70209304	70209304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagcgccacccccaggCaggatccgcagccgcccggc	6	1	14	20	4	0	0	0	0	0	0	1	1	1	1	7	4	2	2	7	4	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:70209304C>T	ENST00000269503.4	-	3	865	c.92G>A	c.(91-93)tGc>tAc	p.C31Y	CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.C31Y|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	31						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CACCCCCAGGCAGGATCCGCA	0.766													6	20					0	0	0	0	T	70209304	C	T	70209304	3	4	331	1	0	0	0	0	1	0	0	0	2730	710	25	4	594	4	CBLN2	18	70209304	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	8624100	70209304	7867944	271	61590											
KCNG2	26251	broad.mit.edu	37	chr18	77623925	77623925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcgtggcgcttttgcgCgcagggaagctgcgactgct	5	9	15	12	5	0	0	0	0	0	0	1	2	0	1	1	2	4	4	1	2	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr18:77623925C>T	ENST00000316249.3	+	1	258	c.258C>T	c.(256-258)cgC>cgT	p.R86R		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	86					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CGCTTTTGCGCGCAGGGAAGC	0.706													7	10					0	0	0	0	T	77623925	C	T	77623925	2	4	331	1	0	0	0	0	0	0	0	1	8081	755	27	1		1	KCNG2	18	77623925	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	7414621	77623925	453323	272	61591											
MIDN	90007	broad.mit.edu	37	chr19	1255542	1255542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccagggcatgcccccttcGctggcccagctccgctgcca	5	7	10	19	2	0	0	0	0	0	0	2	0	1	0	6	2	4	4	6	2	1	2	rs45524034		TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:1255542G>A	ENST00000300952.2	+	7	1493	c.978G>A	c.(976-978)tcG>tcA	p.S326S	MIDN_ENST00000591446.2_Silent_p.S326S	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	326						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TGCCCCCTTCGCTGGCCCAGC	0.711													6	22					0	0	0	0	A	1255542	G	A	1255542	2	1	331	1	0	0	0	0	0	0	0	1	9648	1074	38	1		1	MIDN	19	1255542	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08		1255542	57873441	273	61592											
CIRBP	1153	broad.mit.edu	37	chr19	1271989	1271989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtcttgcagccggagtcaGagtggtggctacagtgaccg	7	9	15	10	2	2	2	1	1	1	1	2	3	2	3	2	3	3	2	2	3	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:1271989G>C	ENST00000444172.2	+	5	416	c.282G>C	c.(280-282)caG>caC	p.Q94H	CIRBP_ENST00000588030.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000588090.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000587896.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589660.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589686.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000585630.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589710.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589235.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000586773.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000587323.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000591935.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000413636.2_Missense_Mutation_p.Q113H|CIRBP_ENST00000586472.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000320936.5_Missense_Mutation_p.Q147H|CIRBP_ENST00000588230.1_Missense_Mutation_p.Q147H			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	147	Gly-rich.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		GCCGGAGTCAGAGTGGTGGCT	0.612													19	69					0	0	0	0	C	1271989	G	C	1271989	3	2	331	1	0	0	0	0	1	0	0	0	3462	933	33	2	459	2	CIRBP	19	1271989	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	16447	1271989	57856994	274	61593											
ZNRF4	148066	broad.mit.edu	37	chr19	5456148	5456148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccctcagtgttcgtgagcGaggccgcctcgcaggacctg	5	8	13	15	4	1	1	1	1	0	0	4	3	2	2	5	2	1	2	5	2	0	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:5456148G>A	ENST00000222033.4	+	1	723	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	216	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTTCGTGAGCGAGGCCGCCTC	0.667													21	83					0	0	0	0	A	5456148	G	A	5456148	3	1	331	1	0	0	0	0	1	0	0	0	18307	1059	37	1	648	1	ZNRF4	19	5456148	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4184159	5456148	53672835	275	61594											
C3	718	broad.mit.edu	37	chr19	6718272	6718272	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcacctgtggagccagggGtgtagatggtcttgtctgtc	5	12	14	10	0	3	1	1	0	2	1	4	2	3	2	3	4	1	1	3	4	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:6718272G>C	ENST00000245907.6	-	3	511	c.419C>G	c.(418-420)aCc>aGc	p.T140S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	140					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGAGCCAGGGGTGTAGATGGT	0.652													8	24					0	0	0	0	C	6718272	G	C	6718272	3	2	331	1	0	0	0	0	1	0	0	0	2224	1261	44	4	4728	4	C3	19	6718272	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	1262124	6718272	52410711	276	61595											
TRIP10	9322	broad.mit.edu	37	chr19	6744700	6744700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtggctgcaaatgctgtgGatcccaagaacgtgggtgcc	9	8	15	9	1	0	1	0	0	0	1	1	2	1	2	2	4	4	3	2	4	3	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:6744700G>A	ENST00000600428.1	+	8	1100	c.454G>A	c.(454-456)Gat>Aat	p.D152N	TRIP10_ENST00000596758.1_Missense_Mutation_p.D260N|TRIP10_ENST00000313244.9_Missense_Mutation_p.D260N|TRIP10_ENST00000313285.8_Missense_Mutation_p.D260N			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	260	Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	p.D260N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAATGCTGTGGATCCCAAGAA	0.622													21	57					0	0	0	0	A	6744700	G	A	6744700	3	1	331	1	0	0	0	0	1	0	0	0	16649	1174	41	2	808	2	TRIP10	19	6744700	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	26428	6744700	52384283	277	61596											
ICAM3	3385	broad.mit.edu	37	chr19	10444650	10444650	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccgttggtgctccctgaaGacgtacattaaggccagtac	9	10	10	12	2	0	2	0	1	0	1	2	2	2	2	3	2	3	4	3	2	4	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:10444650G>A	ENST00000589261.1	-	7	1828	c.1296C>T	c.(1294-1296)gtC>gtT	p.V432V	ICAM3_ENST00000160262.5_Silent_p.V509V			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	509	Ig-like C2-type 5.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GCTCCCTGAAGACGTACATTA	0.572													18	58					0	0	0	0	A	10444650	G	A	10444650	2	1	331	1	0	0	0	0	0	0	0	1	7534	929	33	2		2	ICAM3	19	10444650	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	3699950	10444650	48684333	278	61597											
CARM1	10498	broad.mit.edu	37	chr19	11032100	11032100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccggatgggctccataatGagcacggggattgtccaagg	9	8	14	10	2	0	1	0	1	0	0	3	3	3	3	3	5	1	2	3	5	2	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:11032100G>A	ENST00000327064.4	+	15	1855	c.1665G>A	c.(1663-1665)atG>atA	p.M555I	CARM1_ENST00000344150.4_Intron	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	555	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.M555I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCTCCATAATGAGCACGGGGA	0.672													44	107					0	0	0	0	A	11032100	G	A	11032100	3	1	331	1	0	0	0	0	1	0	0	0	2680	1290	45	2	1723	2	CARM1	19	11032100	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	587450	11032100	48096883	279	61598											
MAST1	22983	broad.mit.edu	37	chr19	12976805	12976805	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgtcccaggcggcgcttttGaggtgaagcagcacagtttc	7	9	13	12	3	0	2	0	2	0	0	2	2	1	2	2	3	2	4	2	3	1	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:12976805G>C	ENST00000251472.4	+	17	1957	c.1918G>C	c.(1918-1920)Gag>Cag	p.E640Q		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	640	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGGCGCTTTTGAGGTGAAGCA	0.632													10	43					0	0	0	0	C	12976805	G	C	12976805	3	2	331	1	0	0	0	0	1	0	0	0	9393	1291	45	2	1984	2	MAST1	19	12976805	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	1944705	12976805	46152178	280	61599											
CPAMD8	27151	broad.mit.edu	37	chr19	17008587	17008587	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgggctgtgggtgctgacGttgtagaagcgagtggcctc	6	10	18	7	2	0	2	0	1	0	1	1	3	0	2	1	3	2	4	1	3	2	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:17008587G>A	ENST00000443236.1	-	39	5152	c.5121C>T	c.(5119-5121)aaC>aaT	p.N1707N		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1660	Kazal-like.					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGTGCTGACGTTGTAGAAGC	0.746													3	4					0	0	0	0	A	17008587	G	A	17008587	2	1	331	1	0	0	0	0	0	0	0	1	3825	1136	40	1		1	CPAMD8	19	17008587	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4031782	17008587	42120396	281	61600											
ZNF492	57615	broad.mit.edu	37	chr19	22836775	22836775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctggagcaaggaaaagaaCcttggaatgtgaagagacat	16	7	13	5	0	1	3	0	1	1	2	1	7	1	6	1	3	2	1	1	3	6	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:22836775C>A	ENST00000456783.2	+	3	332	c.88C>A	c.(88-90)Cct>Act	p.P30T		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P30S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGGAAAAGAACCTTGGAATGT	0.423													11	40					2.27111e-07	2.4528e-07	1	0	A	22836775	C	A	22836775	3	1	331	1	0	0	0	0	1	0	0	0	18038	507	18	4	94	4	ZNF492	19	22836775	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	5828188	22836775	36292208	282	61601											
TSHZ3	57616	broad.mit.edu	37	chr19	31768178	31768178	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatctgacaaggcattctCgcgtagcggcgagtttgaca	10	11	11	9	4	2	2	0	2	2	0	3	3	2	2	0	2	1	3	0	2	4	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:31768178C>A	ENST00000240587.4	-	2	2848	c.2521G>T	c.(2521-2523)Gag>Tag	p.E841*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	841					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AAGGCATTCTCGCGTAGCGGC	0.522													19	65					1.55795e-14	1.74783e-14	1	0	A	31768178	C	A	31768178	4	1	331	1	0	0	0	0	0	1	0	0	16720	893	31	3	728	3	TSHZ3	19	31768178	Nonsense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	8931403	31768178	27360805	283	61602											
ZNF573	126231	broad.mit.edu	37	chr19	38230496	38230496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacatatgtatggcttctCatcagtatgaaactgcccat	11	13	6	11	0	3	1	3	1	1	0	4	1	3	1	1	1	2	3	1	1	4	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:38230496C>T	ENST00000339503.4	-	8	1222	c.721G>A	c.(721-723)Gag>Aag	p.E241K	ZNF573_ENST00000536220.1_Missense_Mutation_p.E211K|ZNF573_ENST00000392138.1_Missense_Mutation_p.E212K|ZNF573_ENST00000357309.3_Missense_Mutation_p.E211K|ZNF573_ENST00000590414.2_Missense_Mutation_p.E299K	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TATGGCTTCTCATCAGTATGA	0.408													16	63					0	0	0	0	T	38230496	C	T	38230496	3	4	331	1	0	0	0	0	1	0	0	0	18100	835	29	2	1106	2	ZNF573	19	38230496	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	6462318	38230496	20898487	284	61603											
CAPN12	147968	broad.mit.edu	37	chr19	39224390	39224390	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtaggagttcatggttccaGaggtgtcctcatcgaacttg	8	12	12	9	2	2	1	2	0	0	1	5	3	4	2	2	3	1	3	2	3	2	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:39224390G>C	ENST00000328867.4	-	18	2218	c.1910C>G	c.(1909-1911)tCt>tGt	p.S637C	CAPN12_ENST00000601953.1_Missense_Mutation_p.S488C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	637	Domain IV.|EF-hand.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CATGGTTCCAGAGGTGTCCTC	0.597													8	35					0	0	0	0	C	39224390	G	C	39224390	3	2	331	1	0	0	0	0	1	0	0	0	2650	942	33	2	265	2	CAPN12	19	39224390	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	993894	39224390	19904593	285	61604											
HNRNPL	3191	broad.mit.edu	37	chr19	39329240	39329240	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggctgcttggagacacTgcagcaaggaagaaagggga	12	5	17	7	0	0	2	0	0	0	2	0	5	0	4	0	6	3	5	0	6	3	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:39329240T>C	ENST00000221419.5	-	10	1722		c.e10-2		AC104534.3_ENST00000594769.1_Splice_Site|HNRNPL_ENST00000600873.1_Splice_Site	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L						nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TTGGAGACACTGCAGCAAGGA	0.542													6	12					0	0	0	0	C	39329240	T	C	39329240	5	2	331	1	0	0	0	0	0	0	1	0	7320	1594	55	5	431	5	HNRNPL	19	39329240	Splice_Site	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	104850	39329240	19799743	286	61605											
PRX	57716	broad.mit.edu	37	chr19	40900809	40900809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctccacctgtggcagggaGatgcccagcggaggcatcct	8	6	14	13	1	0	1	0	0	0	1	2	3	2	2	4	4	3	3	4	4	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:40900809G>A	ENST00000324001.7	-	7	3720	c.3450C>T	c.(3448-3450)atC>atT	p.I1150I	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1150	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGCAGGGAGATGCCCAGCG	0.652													26	56					0	0	0	0	A	40900809	G	A	40900809	2	1	331	1	0	0	0	0	0	0	0	1	12721	932	33	2		2	PRX	19	40900809	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	1571569	40900809	18228174	287	61606											
DEDD2	162989	broad.mit.edu	37	chr19	42713954	42713954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggcaccaccactgggccGgccccgactccgccgctgcc	4	5	11	21	4	1	0	0	0	1	0	2	1	2	0	8	3	1	2	8	3	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:42713954G>A	ENST00000595337.1	-	4	574	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	DEDD2_ENST00000598727.1_Missense_Mutation_p.R163W|DEDD2_ENST00000596251.1_Missense_Mutation_p.R163W|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Missense_Mutation_p.R158W	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	163					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	p.R163W(1)		endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CCACTGGGCCGGCCCCGACTC	0.662													8	65					0	0	0	0	A	42713954	G	A	42713954	3	1	331	1	0	0	0	0	1	0	0	0	4417	1115	39	1	501	1	DEDD2	19	42713954	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	1813145	42713954	16415029	288	61607											
STRN4	29888	broad.mit.edu	37	chr19	47225314	47225314	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgtccaggtgtgcaaccatgGagtgcaccggcttacctgag	8	8	13	12	2	0	1	0	1	0	0	1	2	1	2	4	3	4	3	4	3	2	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:47225314G>C	ENST00000391910.3	-	16	2492	c.2042C>G	c.(2041-2043)tCc>tGc	p.S681C	STRN4_ENST00000539396.1_Missense_Mutation_p.S555C|STRN4_ENST00000263280.6_Missense_Mutation_p.S674C			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	674						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGCAACCATGGAGTGCACCGG	0.617													11	36					0	0	0	0	C	47225314	G	C	47225314	3	2	331	1	0	0	0	0	1	0	0	0	15421	1174	41	2	248	2	STRN4	19	47225314	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	4511360	47225314	11903669	289	61608											
BCAT2	587	broad.mit.edu	37	chr19	49299706	49299706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatctccttcagctccttCtggaagcggaggatcagctc	7	11	11	12	1	4	0	2	0	2	0	7	4	5	4	2	4	3	2	2	4	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:49299706C>A	ENST00000402551.1	-	11	1619	c.999G>T	c.(997-999)caG>caT	p.Q333H	BCAT2_ENST00000316273.6_Missense_Mutation_p.Q373H|BCAT2_ENST00000545387.2_Missense_Mutation_p.Q281H|BCAT2_ENST00000599246.1_Missense_Mutation_p.Q281H|BCAT2_ENST00000597011.1_Missense_Mutation_p.Q333H|BCAT2_ENST00000598162.1_Missense_Mutation_p.Q373H			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	373						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TCAGCTCCTTCTGGAAGCGGA	0.597													24	62					7.92952e-12	8.77447e-12	1	0	A	49299706	C	A	49299706	3	1	331	1	0	0	0	0	1	0	0	0	1359	912	32	2	67	2	BCAT2	19	49299706	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2074392	49299706	9829277	290	61609											
BCAT2	587	broad.mit.edu	37	chr19	49299738	49299738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatcagctcaggcccattttCcatggtgggaatgtggaggt	8	11	14	8	0	2	0	2	0	0	0	3	3	3	2	2	5	1	1	2	5	1	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:49299738C>T	ENST00000402551.1	-	11	1587	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	BCAT2_ENST00000316273.6_Missense_Mutation_p.E363K|BCAT2_ENST00000545387.2_Missense_Mutation_p.E271K|BCAT2_ENST00000599246.1_Missense_Mutation_p.E271K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E323K|BCAT2_ENST00000598162.1_Missense_Mutation_p.E363K			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	363						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GGCCCATTTTCCATGGTGGGA	0.622													22	59					0	0	0	0	T	49299738	C	T	49299738	3	4	331	1	0	0	0	0	1	0	0	0	1359	864	30	2	99	2	BCAT2	19	49299738	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	32	49299738	9829245	291	61610											
LENG9	94059	broad.mit.edu	37	chr19	54973654	54973654	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaatggcagcggcctcctcCccagcgcctgccagtcgcag	6	5	11	19	3	0	0	0	0	0	0	3	0	2	0	7	2	3	2	7	2	1	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:54973654C>T	ENST00000333834.4	-	1	1240	c.1122G>A	c.(1120-1122)ggG>ggA	p.G374G		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	374					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CGGCCTCCTCCCCAGCGCCTG	0.652													20	54					0	0	0	0	T	54973654	C	T	54973654	2	4	331	1	0	0	0	0	0	0	0	1	8778	610	22	4		4	LENG9	19	54973654	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	5673916	54973654	4155329	292	61611											
ZNF444	55311	broad.mit.edu	37	chr19	56669875	56669875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttcaggggccagcagccTcccccgatgggtcgtcagca	7	7	12	15	2	2	0	2	0	0	0	4	1	3	0	4	3	3	2	4	3	0	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:56669875T>C	ENST00000337080.3	+	4	677	c.310T>C	c.(310-312)Tcc>Ccc	p.S104P	ZNF444_ENST00000592171.1_3'UTR|ZNF444_ENST00000592949.1_Missense_Mutation_p.S104P	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	104	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GCCAGCAGCCTCCCCCGATGG	0.587													6	21					0	0	0	0	C	56669875	T	C	56669875	3	2	331	1	0	0	0	0	1	0	0	0	18012	1551	54	5	316	5	ZNF444	19	56669875	Missense_Mutation	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	1696221	56669875	2459108	293	61612											
ZNF71	58491	broad.mit.edu	37	chr19	57133835	57133835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaagcacttcacggggCgctcgtccctcatcgtgcac	8	7	11	15	4	2	1	2	0	0	1	5	1	3	1	1	2	2	4	1	2	2	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:57133835C>T	ENST00000328070.6	+	3	1414	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	394						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R394S(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTTCACGGGGCGCTCGTCCCT	0.627													15	52					0	0	0	0	T	57133835	C	T	57133835	3	4	331	1	0	0	0	0	1	0	0	0	18209	768	27	1	1182	1	ZNF71	19	57133835	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	463960	57133835	1995148	294	61613											
PEG3	5178	broad.mit.edu	37	chr19	57334959	57334959	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggggatgggtactcaccActgaaagaatggactgagtg	12	8	15	6	0	1	3	1	2	0	1	1	5	1	5	1	4	1	1	1	4	3	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr19:57334959A>C	ENST00000326441.9	-	5	845		c.e5+1		ZIM2_ENST00000593931.1_Splice_Site_p.S35_splice|ZIM2_ENST00000391708.3_Splice_Site_p.S35_splice|PEG3_ENST00000423103.2_Splice_Site|PEG3_ENST00000598410.1_Splice_Site_p.S35_splice|ZIM2_ENST00000599935.1_Splice_Site_p.S35_splice|ZIM2_ENST00000221722.5_Splice_Site_p.S35_splice|PEG3_ENST00000593695.1_Splice_Site|ZIM2_ENST00000593711.1_Splice_Site_p.S35_splice|ZIM2_ENST00000601070.1_Splice_Site_p.S35_splice	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3						apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTACTCACCACTGAAAGAAT	0.572													12	32					0	0	0	0	C	57334959	A	C	57334959	5	2	331	1	0	0	0	0	0	0	1	0	11791	173	6	5	4313	5	PEG3	19	57334959	Splice_Site	SNP	A	TCGA-CV-A45Q-01A-11D-A24D-08	201124	57334959	1794024	295	61614											
KIF16B	55614	broad.mit.edu	37	chr20	16493547	16493547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagagtccttcacagatccGaggtattaagccagaatctc	13	9	9	10	1	2	3	1	0	1	3	5	5	4	3	3	1	1	1	3	1	4	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:16493547G>A	ENST00000354981.2	-	5	527	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	KIF16B_ENST00000355755.3_Missense_Mutation_p.R124W|KIF16B_ENST00000408042.1_Missense_Mutation_p.R124W|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	124	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCACAGATCCGAGGTATTAAG	0.458													4	20					0	0	0	0	A	16493547	G	A	16493547	3	1	331	1	0	0	0	0	1	0	0	0	8329	1057	37	1	3671	1	KIF16B	20	16493547	Missense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08		16493547	46531973	296	61615											
EIF2S2	8894	broad.mit.edu	37	chr20	32677565	32677565	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggcacggagctgtgctcGcttgcccgtgacagcctgga	5	10	14	12	3	0	1	0	1	0	0	1	3	0	3	2	3	4	4	2	3	0	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:32677565G>A	ENST00000374980.2	-	9	1194	c.973C>T	c.(973-975)Cga>Tga	p.R325*		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	325						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						AGCTGTGCTCGCTTGCCCGTG	0.478													9	29					0	0	0	0	A	32677565	G	A	32677565	4	1	331	1	0	0	0	0	0	1	0	0	5046	1095	38	1	32	1	EIF2S2	20	32677565	Nonsense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	16184018	32677565	30347955	297	61616											
LPIN3	64900	broad.mit.edu	37	chr20	39978896	39978896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactctagtgggtccccctCtccacaccccagagacagag	9	6	8	18	0	2	2	0	0	2	2	4	3	3	2	6	1	0	0	6	1	1	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:39978896C>T	ENST00000373257.3	+	7	1052	c.961C>T	c.(961-963)Ctc>Ttc	p.L321F		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	321					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGGTCCCCCTCTCCACACCCC	0.622													6	20					0	0	0	0	T	39978896	C	T	39978896	3	4	331	1	0	0	0	0	1	0	0	0	8984	913	32	2	983	2	LPIN3	20	39978896	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	7301331	39978896	23046624	298	61617											
MYBL2	4605	broad.mit.edu	37	chr20	42343842	42343842	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaagacaacagcttgctCaaccagggcttcttgcaggc	13	7	10	11	0	2	2	1	0	1	2	2	2	2	2	1	2	5	4	1	2	4	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:42343842C>G	ENST00000217026.4	+	13	2020	c.1893C>G	c.(1891-1893)ctC>ctG	p.L631L	MYBL2_ENST00000396863.4_Silent_p.L607L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	631						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACAGCTTGCTCAACCAGGGCT	0.562													58	156					0	0	0	0	G	42343842	C	G	42343842	2	3	331	1	0	0	0	0	0	0	0	1	10080	813	29	2		2	MYBL2	20	42343842	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	2364946	42343842	20681678	299	61618											
SEMG2	6407	broad.mit.edu	37	chr20	43851824	43851824	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaatcctaatcaagatcaAtggtctggccaaaatgcaaa	17	8	6	10	0	3	1	2	0	1	1	4	1	4	1	3	2	1	1	3	2	7	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr20:43851824A>G	ENST00000372769.3	+	2	1641	c.1551A>G	c.(1549-1551)caA>caG	p.Q517Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	517	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ATCAAGATCAATGGTCTGGCC	0.403													11	24					0	0	0	0	G	43851824	A	G	43851824	2	3	331	1	0	0	0	0	0	0	0	1	14132	98	4	5		5	SEMG2	20	43851824	Silent	SNP	A	TCGA-CV-A45Q-01A-11D-A24D-08	1507982	43851824	19173696	300	61619											
KRTAP19-3	337970	broad.mit.edu	37	chr21	31864135	31864135	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagcctccaaagccagaGccatatccgtagcctccata	12	7	6	16	1	0	1	0	0	0	1	3	1	3	1	8	0	4	1	8	0	5	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr21:31864135G>T	ENST00000334063.4	-	1	140	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	47						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CAAAGCCAGAGCCATATCCGT	0.557													47	176					8.72198e-27	9.89468e-27	1	0	T	31864135	G	T	31864135	2	4	331	1	0	0	0	0	0	0	0	1	8582	958	34	4		4	KRTAP19-3	21	31864135	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08		31864135	16265760	301	61620											
DSCAM	1826	broad.mit.edu	37	chr21	41725483	41725483	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtccgaggggcgaatgttCtcaatgagcagccccgtcac	9	7	13	12	3	2	1	2	1	1	0	4	4	3	1	3	2	2	2	3	2	2	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr21:41725483C>G	ENST00000400454.1	-	5	1320	c.843G>C	c.(841-843)gaG>gaC	p.E281D		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	281	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCGAATGTTCTCAATGAGCA	0.557													14	52					0	0	0	0	G	41725483	C	G	41725483	3	3	331	1	0	0	0	0	1	0	0	0	4804	912	32	2	5311	2	DSCAM	21	41725483	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	9861348	41725483	6404412	302	61621											
XKR3	150165	broad.mit.edu	37	chr22	17264575	17264575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcaggagtgacagtaattCctcagctgcttatttttatt	9	17	8	7	0	1	1	1	1	0	0	2	2	2	2	1	1	3	4	1	1	3	8			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:17264575C>A	ENST00000331428.5	-	4	1416	c.1314G>T	c.(1312-1314)agG>agT	p.R438S		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	438						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GACAGTAATTCCTCAGCTGCT	0.348													6	4					3.59834e-05	3.80503e-05	1	0	A	17264575	C	A	17264575	3	1	331	1	0	0	0	0	1	0	0	0	17528	854	30	2	69	2	XKR3	22	17264575	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08		17264575	34039991	303	61622											
TBC1D10A	83874	broad.mit.edu	37	chr22	30695463	30695463	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagggttctgctgtaacttCaccttgcctcctgacaggta	7	12	9	13	0	2	1	1	1	1	0	3	1	3	1	4	2	3	4	4	2	2	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:30695463C>T	ENST00000215790.7	-	3	551	c.387G>A	c.(385-387)gtG>gtA	p.V129V	TBC1D10A_ENST00000403362.1_Silent_p.V41V|RP1-130H16.18_ENST00000447976.1_Silent_p.V3V|TBC1D10A_ENST00000403477.3_Silent_p.V136V	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	129	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCTGTAACTTCACCTTGCCTC	0.562													10	40					0	0	0	0	T	30695463	C	T	30695463	2	4	331	1	0	0	0	0	0	0	0	1	15689	813	29	2		2	TBC1D10A	22	30695463	Silent	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	13430888	30695463	20609103	304	61623											
MYH9	4627	broad.mit.edu	37	chr22	36708234	36708234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggggaaccagcactcctCgtccagcagggccagaatgc	9	7	12	13	1	0	1	0	0	0	1	3	2	2	2	4	3	4	2	4	3	2	1			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:36708234C>T	ENST00000216181.5	-	14	1818	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	530	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.E530K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGCACTCCTCGTCCAGCAGG	0.637			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				15	44					0	0	0	0	T	36708234	C	T	36708234	3	4	331	1	0	0	0	0	1	0	0	0	10112	893	31	1	4406	1	MYH9	22	36708234	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	6012771	36708234	14596332	305	61624											
DNAJB7	150353	broad.mit.edu	37	chr22	41257470	41257470	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgtccatcccactattatCaaaagccagggaagagaaag	15	8	9	9	0	1	1	1	0	0	1	3	3	3	2	3	1	1	1	3	1	6	3	rs145804206	by1000genomes	TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:41257470C>G	ENST00000307221.4	-	1	660	c.529G>C	c.(529-531)Gat>Cat	p.D177H	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	177					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CCACTATTATCAAAAGCCAGG	0.333													12	36					0	0	0	0	G	41257470	C	G	41257470	3	3	331	1	0	0	0	0	1	0	0	0	4661	826	29	2	404	2	DNAJB7	22	41257470	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	4549236	41257470	10047096	306	61625											
LMF2	91289	broad.mit.edu	37	chr22	50942864	50942864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatacctggccacttggctCtggacaaggcggatcactgc	8	8	13	12	1	2	0	1	0	1	0	2	3	2	3	2	6	2	1	2	6	2	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chr22:50942864C>G	ENST00000216080.5	-	12	1716	c.1548G>C	c.(1546-1548)caG>caC	p.Q516H	LMF2_ENST00000380796.3_Missense_Mutation_p.Q428H|LMF2_ENST00000474879.2_Missense_Mutation_p.Q541H			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	541						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACTTGGCTCTGGACAAGGC	0.672													14	27					0	0	0	0	G	50942864	C	G	50942864	3	3	331	1	0	0	0	0	1	0	0	0	8901	912	32	2	512	2	LMF2	22	50942864	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	9685394	50942864	361702	307	61626											
LANCL3	347404	broad.mit.edu	37	chrX	37526544	37526544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttttcacaggaattgcctAtctgtttgccaaagcttatc	9	16	7	9	0	2	0	1	0	1	0	3	1	2	1	2	1	3	3	2	1	4	6			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:37526544A>G	ENST00000378621.3	+	4	1207	c.905A>G	c.(904-906)tAt>tGt	p.Y302C	LANCL3_ENST00000378619.3_Missense_Mutation_p.Y302C|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	302							catalytic activity			lung(4)|pancreas(1)	5						GGAATTGCCTATCTGTTTGCC	0.423													12	12					0	0	0	0	G	37526544	A	G	37526544	3	3	331	1	0	0	0	0	1	0	0	0	8675	449	16	5	919	5	LANCL3	23	37526544	Missense_Mutation	SNP	A	TCGA-CV-A45Q-01A-11D-A24D-08		37526544	117744016	308	61627											
KDM6A	7403	broad.mit.edu	37	chrX	44910975	44910975	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatatcattctgcaaaaGaagcttatgaacaacttttg	16	12	7	6	0	2	2	1	1	1	1	2	3	2	3	0	1	4	2	0	1	8	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:44910975G>T	ENST00000377967.4	+	9	717	c.676G>T	c.(676-678)Gaa>Taa	p.E226*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E226*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E226*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E226*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	226					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCTGCAAAAGAAGCTTATGA	0.284			"D, N, F, S"		"renal, oesophageal SCC, MM"								3	7					0.115264	0.116124	1	0	T	44910975	G	T	44910975	4	4	331	1	0	0	0	0	0	1	0	0	8189	943	33	2	710	2	KDM6A	23	44910975	Nonsense_Mutation	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	7384431	44910975	110359585	309	61628											
ARAF	369	broad.mit.edu	37	chrX	47422420	47422420	+	Frame_Shift_Del	DEL	G	G	-																															gccgagccatcccgggcagtGggcaccgtcaaagtatacct																										TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:47422420delG	ENST00000377045.4	+	2	248	c.54delG	c.(52-54)gtfs	p.V18fs	ARAF_ENST00000290277.6_Frame_Shift_Del_p.V18fs|ARAF_ENST00000377039.2_Frame_Shift_Del_p.V18fs	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	18					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CCCGGGCAGTGGGCACCGTCA	0.612											OREG0019758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					-	47422420	G	-	47422420	7	5	331	1	0	1	0	1	0	0	0	0	839	1335	47	0	56	0	ARAF	23	47422420	Frame_Shift_Del	DEL	G	TCGA-CV-A45Q-01A-11D-A24D-08	2511445	47422420	107848140	310	61629											
SLC38A5	92745	broad.mit.edu	37	chrX	48325429	48325429	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatggcgttgctgaggttGaacactgacattccaaacga	12	10	11	8	2	0	4	0	4	0	0	1	5	1	4	1	2	3	3	1	2	2	3			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:48325429G>A	ENST00000376876.3	-	4	1008	c.165C>T	c.(163-165)ttC>ttT	p.F55F	SLC38A5_ENST00000317669.5_Silent_p.F55F|SLC38A5_ENST00000376875.1_Silent_p.F4F			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	55					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						TGCTGAGGTTGAACACTGACA	0.587											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	11					0	0	0	0	A	48325429	G	A	48325429	2	1	331	1	0	0	0	0	0	0	0	1	14695	1281	45	2		2	SLC38A5	23	48325429	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	903009	48325429	106945131	311	61630											
ZXDB	158586	broad.mit.edu	37	chrX	57618621	57618621	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcgccgcctcctgctgcTccggggcccccaagatggcg	4	5	13	19	5	0	1	0	0	0	1	2	1	2	1	6	3	2	2	6	3	1	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:57618621T>C	ENST00000374888.1	+	1	353	c.140T>C	c.(139-141)cTc>cCc	p.L47P		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.L47P(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CTCCTGCTGCTCCGGGGCCCC	0.786													3	5					0	0	0	0	C	57618621	T	C	57618621	3	2	331	1	0	0	0	0	1	0	0	0	18342	1551	54	5	142	5	ZXDB	23	57618621	Missense_Mutation	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	9293192	57618621	97651939	312	61631											
SPIN4	139886	broad.mit.edu	37	chrX	62570773	62570773	+	Translation_Start_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaagtcaacactatgcAatatgatatatatatttttt	18	15	3	5	0	1	1	1	1	0	0	1	1	1	1	0	0	2	1	0	0	10	9			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:62570773A>C	ENST00000374884.2	-	0	450				SPIN4_ENST00000335144.3_De_novo_Start_OutOfFrame|SPIN4-AS1_ENST00000451979.1_RNA			Q56A73	SPIN4_HUMAN	spindlin family, member 4						gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						AACACTATGCAATATGATATA	0.473													10	10					0	0	0	0	C	62570773	A	C	62570773	1	2	331	1	0	0	0	0	0	0	0	0	15146	145	5	5		5	SPIN4	23	62570773	Translation_Start_Site	SNP	A	TCGA-CV-A45Q-01A-11D-A24D-08	4952152	62570773	92699787	313	61632											
ITGB1BP2	26548	broad.mit.edu	37	chrX	70523745	70523745	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcagagtcggtagacAtgactgggggaagcaggtaa	12	6	18	5	1	0	3	0	1	0	2	1	4	0	4	0	5	2	4	0	5	3	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:70523745A>C	ENST00000538820.1	+	7	909	c.569A>C	c.(568-570)cAt>cCt	p.H190P	ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.H208P|ITGB1BP2_ENST00000465388.1_3'UTR			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	208	CHORD 2.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					GTCGGTAGACATGACTGGGGG	0.502													10	15					0	0	0	0	C	70523745	A	C	70523745	3	2	331	1	0	0	0	0	1	0	0	0	7945	217	8	5	653	5	ITGB1BP2	23	70523745	Missense_Mutation	SNP	A	TCGA-CV-A45Q-01A-11D-A24D-08	7952972	70523745	84746815	314	61633											
PGK1	5230	broad.mit.edu	37	chrX	77378330	77378330	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgattcttgctttctcttgtAgagctaaagttgcagacaag	10	15	9	7	0	2	3	0	1	2	2	3	3	2	3	0	0	3	5	0	0	4	7			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:77378330A>C	ENST00000373316.4	+	7	808		c.e7-1		PGK1_ENST00000537456.1_Splice_Site|PGK1_ENST00000442431.1_Splice_Site	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TTTCTCTTGTAGAGCTAAAGT	0.378													14	23					0	0	0	0	C	77378330	A	C	77378330	5	2	331	1	0	0	0	0	0	0	1	0	11862	434	15	5	666	5	PGK1	23	77378330	Splice_Site	SNP	A	TCGA-CV-A45Q-01A-11D-A24D-08	6854585	77378330	77892230	315	61634											
FAM133A	286499	broad.mit.edu	37	chrX	92964763	92964763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagctctgattcttcaagCagttcttcagattctgagga	10	14	8	9	0	7	3	3	2	4	1	7	4	7	4	0	1	2	3	0	1	2	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:92964763C>G	ENST00000538690.1	+	5	906	c.345C>G	c.(343-345)agC>agG	p.S115R	FAM133A_ENST00000332647.4_Missense_Mutation_p.S115R|FAM133A_ENST00000322139.4_Missense_Mutation_p.S115R|FAM133A_ENST00000355813.5_Missense_Mutation_p.S115R	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	115	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						ATTCTTCAAGCAGTTCTTCAG	0.363													4	7					0	0	0	0	G	92964763	C	G	92964763	3	3	331	1	0	0	0	0	1	0	0	0	5484	709	25	4	347	4	FAM133A	23	92964763	Missense_Mutation	SNP	C	TCGA-CV-A45Q-01A-11D-A24D-08	15586433	92964763	62305797	316	61635											
TCEAL5	340543	broad.mit.edu	37	chrX	102528878	102528878	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggccaaagacattaaacaTatgggacatcttctaagtct	16	10	7	8	0	3	1	0	0	3	1	3	2	3	2	1	2	1	0	1	2	6	4			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:102528878T>G	ENST00000372680.1	-	3	908	c.614A>C	c.(613-615)tAt>tCt	p.Y205S		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						acattaaacatATGGGACATC	0.502													21	38					0	0	0	0	G	102528878	T	G	102528878	3	3	331	1	0	0	0	0	1	0	0	0	15768	1406	49	5	10	5	TCEAL5	23	102528878	Missense_Mutation	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	9564115	102528878	52741682	317	61636											
GLRA4	441509	broad.mit.edu	37	chrX	102978844	102978844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagttcttgaggtccatcaGgcaggacaaaatgagggtca	13	8	13	7	0	3	2	2	2	1	0	4	4	4	3	1	4	0	2	1	4	3	2			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:102978844G>A	ENST00000372617.4	-	5	937	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	173						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGGTCCATCAGGCAGGACAAA	0.527													36	29					0	0	0	0	A	102978844	G	A	102978844	2	1	331	1	0	0	0	0	0	0	0	1	6508	991	35	4		4	GLRA4	23	102978844	Silent	SNP	G	TCGA-CV-A45Q-01A-11D-A24D-08	449966	102978844	52291716	318	61637											
CAPN6	827	broad.mit.edu	37	chrX	110507164	110507164	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcttcagaggaggacccaTagtgttgaactatgcctaga	12	9	12	8	0	1	3	1	1	0	2	1	6	1	5	2	2	3	2	2	2	4	5			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:110507164T>C	ENST00000324068.1	-	2	168	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	1					microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GGAGGACCCATAGTGTTGAAC	0.408													41	52					0	0	0	0	C	110507164	T	C	110507164	1	2	331	1	0	0	0	0	0	0	0	0	2655	1406	49	5		5	CAPN6	23	110507164	Translation_Start_Site	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	7528320	110507164	44763396	319	61638											
PGRMC1	10857	broad.mit.edu	37	chrX	118370343	118370343	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatggctgccgaggatgTggtggcgactggcgccgacc	6	7	17	11	4	1	0	1	0	0	0	1	5	1	1	3	5	1	1	3	5	0	0			TCGA-CV-A45Q-01A-11D-A24D-08	TCGA-CV-A45Q-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b93391c-53df-4695-9ebc-569f0f052ed4	2f5f3260-13e1-4982-839d-19527ab3948d	g.chrX:118370343T>C	ENST00000217971.7	+	1	128	c.17T>C	c.(16-18)gTg>gCg	p.V6A	PGRMC1_ENST00000535419.1_Missense_Mutation_p.V6A	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	6						cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						GCCGAGGATGTGGTGGCGACT	0.637													18	29					0	0	0	0	C	118370343	T	C	118370343	3	2	331	1	0	0	0	0	1	0	0	0	11878	1696	59	5	19	5	PGRMC1	23	118370343	Missense_Mutation	SNP	T	TCGA-CV-A45Q-01A-11D-A24D-08	7863179	118370343	36900217	320	61639											
CLCNKA	1187	broad.mit.edu	37	chr1	16356265	16356265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccatccccatgcctGccgggtacttcatgcccatc	7	8	6	20	1	1	0	1	0	0	0	3	0	2	0	8	1	4	1	8	1	1	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:16356265G>T	ENST00000375692.1	+	14	1395	c.1267G>T	c.(1267-1269)Gcc>Tcc	p.A423S	CLCNKA_ENST00000439316.2_Missense_Mutation_p.A380S|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A423S|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.A423S			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	423					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCCCATGCCTGCCGGGTACTT	0.592													22	229					3.28513e-13	3.48863e-13	1	0	T	16356265	G	T	16356265	3	4	332	1	0	0	0	0	1	0	0	0	3499	1319	46	4	1313	4	CLCNKA	1	16356265	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08		16356265	232894356	1	61640											
PADI3	51702	broad.mit.edu	37	chr1	17603149	17603149	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctttgtccctgccccCgatgggaaggtaagaacttc	8	10	11	12	1	0	2	0	1	0	1	2	4	1	3	3	2	3	2	3	2	3	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:17603149C>G	ENST00000375460.3	+	12	1483	c.1443C>G	c.(1441-1443)ccC>ccG	p.P481P		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	481					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.P481P(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCCCTGCCCCCGATGGGAAGG	0.597													15	116					0	0	0	0	G	17603149	C	G	17603149	2	3	332	1	0	0	0	0	0	0	0	1	11450	639	23	3		3	PADI3	1	17603149	Silent	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	1246884	17603149	231647472	2	61641											
CNKSR1	10256	broad.mit.edu	37	chr1	26510920	26510920	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttggccctgagcccctGcccatccccccggaaccccc	4	6	7	24	1	0	1	0	1	0	0	2	2	2	2	10	2	3	0	10	2	1	1			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:26510920G>A	ENST00000531191.1	+	11	1262	c.255G>A	c.(253-255)ctG>ctA	p.L85L	CNKSR1_ENST00000374253.5_Silent_p.L350L|CNKSR1_ENST00000361530.6_Silent_p.L343L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	350	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAGCCCCTGCCCATCCCCC	0.637													14	19					0	0	0	0	A	26510920	G	A	26510920	2	1	332	1	0	0	0	0	0	0	0	1	3636	1306	46	4		4	CNKSR1	1	26510920	Silent	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	8907771	26510920	222739701	3	61642											
ARID1A	8289	broad.mit.edu	37	chr1	27059232	27059232	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgacctccagtaagggAgggcaagaagatatgaacct	15	7	11	8	0	1	4	1	2	0	2	2	5	2	5	3	2	1	2	3	2	6	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:27059232A>G	ENST00000324856.7	+	4	2240	c.1869A>G	c.(1867-1869)ggA>ggG	p.G623G	ARID1A_ENST00000457599.2_Silent_p.G623G|ARID1A_ENST00000374152.2_Silent_p.G240G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	623					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGTAAGGGAGGGCAAGAAG	0.498			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								35	92					0	0	0	0	G	27059232	A	G	27059232	2	3	332	1	0	0	0	0	0	0	0	1	915	291	11	5		5	ARID1A	1	27059232	Silent	SNP	A	TCGA-CV-A45R-01A-11D-A24D-08	548312	27059232	222191389	4	61643											
LRRC42	115353	broad.mit.edu	37	chr1	54428009	54428009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagctccagacccacatagGccttgttcactccaaagtgc	11	8	7	15	0	1	1	1	0	0	1	3	1	3	1	4	1	2	2	4	1	3	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:54428009G>A	ENST00000371370.3	+	7	1375	c.854G>A	c.(853-855)gGc>gAc	p.G285D	LRRC42_ENST00000477905.1_3'UTR|LRRC42_ENST00000319223.4_Missense_Mutation_p.G285D	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	285										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						ACCCACATAGGCCTTGTTCAC	0.443													9	25					0	0	0	0	A	54428009	G	A	54428009	3	1	332	1	0	0	0	0	1	0	0	0	9064	1203	42	4	872	4	LRRC42	1	54428009	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	27368777	54428009	194822612	5	61644											
RPL5	6125	broad.mit.edu	37	chr1	93306171	93306171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atccagtctatgaaaagaagCccaagaaagaagttaaaaag	21	6	8	6	0	1	4	0	1	1	3	2	4	2	4	2	0	1	1	2	0	10	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:93306171C>A	ENST00000370321.3	+	7	859	c.769C>A	c.(769-771)Ccc>Acc	p.P257T		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	257					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGAAAAGAAGCCCAAGAAAGA	0.398													4	115					0.184627	0.184627	1	0	A	93306171	C	A	93306171	3	1	332	1	0	0	0	0	1	0	0	0	13682	739	26	4	795	4	RPL5	1	93306171	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	38878162	93306171	155944450	6	61645											
ZNF697	90874	broad.mit.edu	37	chr1	120168620	120168620	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagcccatttctctttctTctgggtccccttccctgtcc	3	16	6	16	0	3	1	0	0	3	1	7	1	6	1	5	1	1	0	5	1	1	5			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:120168620T>G	ENST00000421812.2	-	2	223	c.104A>C	c.(103-105)gAa>gCa	p.E35A		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TTCTCTTTCTTCTGGGTCCCC	0.512													39	84					0	0	0	0	G	120168620	T	G	120168620	3	3	332	1	0	0	0	0	1	0	0	0	18195	1783	62	5	1541	5	ZNF697	1	120168620	Missense_Mutation	SNP	T	TCGA-CV-A45R-01A-11D-A24D-08	26862449	120168620	129082001	7	61646											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858608	149858608	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggcctccagttcccggtAgggcgagtgcaccgcttgct	4	9	14	14	3	0	0	0	0	0	0	2	1	2	0	4	3	2	6	4	3	1	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:149858608A>G	ENST00000331380.2	+	1	84	c.84A>G	c.(82-84)gtA>gtG	p.V28V		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	28					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGTTCCCGGTAGGGCGAGTGC	0.672													5	183					0	0	0	0	G	149858608	A	G	149858608	2	3	332	1	0	0	0	0	0	0	0	1	7228	407	15	5		5	HIST2H2AC	1	149858608	Silent	SNP	A	TCGA-CV-A45R-01A-11D-A24D-08	29689988	149858608	99392013	8	61647											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859278	149859278	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttgcccgccagctccagAatttccgcggtcaggtactc	6	9	11	15	4	1	1	1	0	0	1	4	1	3	1	4	2	3	3	4	2	2	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:149859278A>G	ENST00000331128.3	-	1	188	c.189T>C	c.(187-189)atT>atC	p.I63I		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	63					nucleosome assembly	nucleosome|nucleus	DNA binding	p.I63I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCAGCTCCAGAATTTCCGCGG	0.637													7	103					0	0	0	0	G	149859278	A	G	149859278	2	3	332	1	0	0	0	0	0	0	0	1	7227	242	9	5		5	HIST2H2AB	1	149859278	Silent	SNP	A	TCGA-CV-A45R-01A-11D-A24D-08	670	149859278	99391343	9	61648											
PROX1	5629	broad.mit.edu	37	chr1	214171118	214171118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgcctgcagtgctttggcGacgtcatcattccgaacccc	7	9	10	15	4	2	0	2	0	0	0	3	2	3	0	4	1	4	2	4	1	1	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:214171118G>A	ENST00000366958.4	+	2	1848	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	PROX1_ENST00000261454.4_Missense_Mutation_p.D414N|PROX1_ENST00000435016.1_Missense_Mutation_p.D414N|PROX1_ENST00000498508.2_Missense_Mutation_p.D414N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	414					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTGCTTTGGCGACGTCATCAT	0.562													54	110					0	0	0	0	A	214171118	G	A	214171118	3	1	332	1	0	0	0	0	1	0	0	0	12640	1058	37	1	1242	1	PROX1	1	214171118	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	64311840	214171118	35079503	10	61649											
SLC30A10	55532	broad.mit.edu	37	chr1	220088829	220088829	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacataacattggtcctcctGagttttgttaagactttgtc	9	16	8	8	0	0	2	0	1	0	1	3	3	2	2	2	1	1	2	2	1	2	6			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:220088829G>C	ENST00000366926.3	-	4	1581	c.1420C>G	c.(1420-1422)Cag>Gag	p.Q474E	SLC30A10_ENST00000536446.1_Missense_Mutation_p.Q229E|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	474					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TGGTCCTCCTGAGTTTTGTTA	0.448													53	147					0	0	0	0	C	220088829	G	C	220088829	3	2	332	1	0	0	0	0	1	0	0	0	14642	1299	45	2	41	2	SLC30A10	1	220088829	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	5917711	220088829	29161792	11	61650											
WNT9A	7483	broad.mit.edu	37	chr1	228109449	228109449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcgagtcatccaggtgcaCcagctctggagtgcggggca	8	6	16	11	2	2	0	1	0	1	0	3	2	3	1	2	5	3	3	2	5	0	0			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:228109449C>T	ENST00000272164.5	-	4	878	c.868G>A	c.(868-870)Gtg>Atg	p.V290M	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	290					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TCCAGGTGCACCAGCTCTGGA	0.692													13	59					0	0	0	0	T	228109449	C	T	228109449	3	4	332	1	0	0	0	0	1	0	0	0	17494	507	18	4	233	4	WNT9A	1	228109449	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	8020620	228109449	21141172	12	61651											
OBSCN	84033	broad.mit.edu	37	chr1	228495023	228495023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagacaggtgacatagcccGgctgtgctgtcagctgagtg	8	8	16	9	1	1	3	1	2	0	1	1	4	1	3	1	3	3	3	1	3	1	1			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:228495023G>A	ENST00000570156.2	+	57	15202	c.15128G>A	c.(15127-15129)cGg>cAg	p.R5043Q	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4086Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1205Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1720Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4086Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4086					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACATAGCCCGGCTGTGCTGT	0.622													15	89					0	0	0	0	A	228495023	G	A	228495023	3	1	332	1	0	0	0	0	1	0	0	0	10883	1116	39	1	12435	1	OBSCN	1	228495023	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	385574	228495023	20755598	13	61652											
TRIM58	25893	broad.mit.edu	37	chr1	248020626	248020626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggatttcctgcaggagccGgtcagcgtggactgcggcca	6	8	15	12	3	1	0	1	0	0	0	2	3	2	3	3	5	4	1	3	5	0	1			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:248020626G>A	ENST00000366481.3	+	1	126	c.78G>A	c.(76-78)ccG>ccA	p.P26P		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	26						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCAGGAGCCGGTCAGCGTGG	0.721													4	21					0	0	0	0	A	248020626	G	A	248020626	2	1	332	1	0	0	0	0	0	0	0	1	16626	1103	39	1		1	TRIM58	1	248020626	Silent	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	19525603	248020626	1229995	14	61653											
GPR45	11250	broad.mit.edu	37	chr2	105858983	105858983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcatcctcaacacggtccGcaagaacgccgtgcgcgtgc	8	6	12	15	6	1	1	1	0	0	1	3	1	3	1	3	1	5	2	3	1	3	0			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr2:105858983G>A	ENST00000258456.1	+	1	784	c.668G>A	c.(667-669)cGc>cAc	p.R223H		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	223						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AACACGGTCCGCAAGAACGCC	0.677													28	42					0	0	0	0	A	105858983	G	A	105858983	3	1	332	1	0	0	0	0	1	0	0	0	6745	1087	38	1	670	1	GPR45	2	105858983	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08		105858983	137340390	15	61654											
DPP10	57628	broad.mit.edu	37	chr2	116497323	116497323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttattctagaggaactcCtgcattctcacatcgcccac	10	12	5	14	1	2	1	1	0	2	1	5	2	3	2	2	1	2	1	2	1	3	5			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr2:116497323C>G	ENST00000410059.1	+	9	1186	c.706C>G	c.(706-708)Ctg>Gtg	p.L236V	DPP10_ENST00000310323.8_Missense_Mutation_p.L229V|DPP10_ENST00000393147.2_Missense_Mutation_p.L240V|DPP10_ENST00000409163.1_Missense_Mutation_p.L186V|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	236					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAGGAACTCCTGCATTCTCA	0.458													13	57					0	0	0	0	G	116497323	C	G	116497323	3	3	332	1	0	0	0	0	1	0	0	0	4763	680	24	4	911	4	DPP10	2	116497323	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	10638340	116497323	126702050	16	61655											
PSMD1	5707	broad.mit.edu	37	chr2	231943412	231943412	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgtcatactgcaaccgttAtagcaaactcttttatgcac	12	14	5	10	1	2	0	1	0	1	0	2	0	2	0	1	0	6	4	1	0	7	6			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr2:231943412A>G	ENST00000308696.6	+	10	1273	c.1111A>G	c.(1111-1113)Ata>Gta	p.I371V	PSMD1_ENST00000373635.4_Missense_Mutation_p.I371V|PSMD1_ENST00000409643.1_Missense_Mutation_p.I371V	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	371					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|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)	TGCAACCGTTATAGCAAACTC	0.363													15	17					0	0	0	0	G	231943412	A	G	231943412	3	3	332	1	0	0	0	0	1	0	0	0	12771	449	16	5	1149	5	PSMD1	2	231943412	Missense_Mutation	SNP	A	TCGA-CV-A45R-01A-11D-A24D-08	115446089	231943412	11255961	17	61656											
CNTN4	152330	broad.mit.edu	37	chr3	2928746	2928746	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaccaactattatctggCgaagagctgatggaaagcca	14	8	10	9	1	1	2	0	1	1	1	1	4	1	3	2	2	4	2	2	2	6	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr3:2928746C>T	ENST00000397461.1	+	9	1162	c.778C>T	c.(778-780)Cga>Tga	p.R260*	CNTN4_ENST00000358480.3_Nonsense_Mutation_p.R41*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.R260*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.R260*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	260	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TATTATCTGGCGAAGAGCTGA	0.398													3	9					0	0	0	0	T	2928746	C	T	2928746	4	4	332	1	0	0	0	0	0	1	0	0	3673	760	27	1	804	1	CNTN4	3	2928746	Nonsense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08		2928746	195093684	18	61657											
COL6A6	131873	broad.mit.edu	37	chr3	130287049	130287049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggtgtagtccagttcagcGacatcaataaggaagagttt	12	12	11	6	1	2	1	2	0	0	1	3	3	3	2	1	2	1	3	1	2	4	5			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr3:130287049G>A	ENST00000358511.6	+	5	2033	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D668N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	668	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen		p.D668N(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCAGTTCAGCGACATCAATAA	0.423													16	133					0	0	0	0	A	130287049	G	A	130287049	3	1	332	1	0	0	0	0	1	0	0	0	3733	1058	37	1	2020	1	COL6A6	3	130287049	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	127358303	130287049	67735381	19	61658											
SPSB4	92369	broad.mit.edu	37	chr3	140785418	140785418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgacggcaagaaccagcccGgcgtggcctacccggccttt	8	5	12	16	5	0	1	0	0	0	1	0	2	0	1	5	4	3	1	5	4	3	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr3:140785418G>A	ENST00000310546.2	+	2	1216	c.472G>A	c.(472-474)Ggc>Agc	p.G158S		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	158	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GAACCAGCCCGGCGTGGCCTA	0.687													4	18					0	0	0	0	A	140785418	G	A	140785418	3	1	332	1	0	0	0	0	1	0	0	0	15205	1116	39	1	474	1	SPSB4	3	140785418	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	10498369	140785418	57237012	20	61659											
AGTR1	185	broad.mit.edu	37	chr3	148459480	148459480	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttatactcttatttggAaggccctaaagaaggcttat	13	13	8	7	0	1	1	0	0	1	1	1	2	1	2	1	3	1	2	1	3	9	6			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr3:148459480A>G	ENST00000542281.1	+	4	1104	c.658A>G	c.(658-660)Aag>Gag	p.K220E	AGTR1_ENST00000474935.1_Missense_Mutation_p.K220E|AGTR1_ENST00000404754.2_Missense_Mutation_p.K220E|AGTR1_ENST00000497524.1_Missense_Mutation_p.K220E|AGTR1_ENST00000461609.1_Missense_Mutation_p.K220E|AGTR1_ENST00000475347.1_Missense_Mutation_p.K220E|AGTR1_ENST00000418473.2_Missense_Mutation_p.K220E|AGTR1_ENST00000349243.3_Missense_Mutation_p.K220E|AGTR1_ENST00000402260.1_Missense_Mutation_p.K220E	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	220					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TCTTATTTGGAAGGCCCTAAA	0.358													4	33					0	0	0	0	G	148459480	A	G	148459480	3	3	332	1	0	0	0	0	1	0	0	0	401	247	9	5	660	5	AGTR1	3	148459480	Missense_Mutation	SNP	A	TCGA-CV-A45R-01A-11D-A24D-08	7674062	148459480	49562950	21	61660											
PIK3CA	5290	broad.mit.edu	37	chr3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctgaaatcactgagcAggagaaagattttctatgga	13	12	9	7	0	4	4	1	2	3	2	5	6	4	5	0	2	1	1	0	2	3	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	19					0	0	0	0	G	178936095	A	G	178936095	3	3	332	1	0	0	0	0	1	0	0	0	11985	188	7	5	1671	5	PIK3CA	3	178936095	Missense_Mutation	SNP	A	TCGA-CV-A45R-01A-11D-A24D-08	30476615	178936095	19086335	22	61661											
KIAA0232	9778	broad.mit.edu	37	chr4	6864427	6864427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccagcaaaacagtagaaCtttaggtgagattcctacat	14	11	8	8	0	0	2	0	1	0	2	1	3	1	2	2	1	5	2	2	1	6	6			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:6864427C>G	ENST00000307659.5	+	7	2773	c.2318C>G	c.(2317-2319)aCt>aGt	p.T773S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.T773S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	773							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AACAGTAGAACTTTAGGTGAG	0.308													9	23					0	0	0	0	G	6864427	C	G	6864427	3	3	332	1	0	0	0	0	1	0	0	0	8214	565	20	4	2336	4	KIAA0232	4	6864427	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08		6864427	184289849	23	61662											
SLIT2	9353	broad.mit.edu	37	chr4	20493433	20493433	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgttttgcactgccctgcCgcctgtacctgtagcaacaa	8	11	9	13	1	0	0	0	0	0	0	0	0	0	0	4	0	6	5	4	0	4	4			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:20493433C>T	ENST00000504154.1	+	9	1077	c.825C>T	c.(823-825)gcC>gcT	p.A275A	SLIT2_ENST00000503837.1_Silent_p.A279A|SLIT2_ENST00000273739.5_Silent_p.A279A|SLIT2_ENST00000503823.1_Silent_p.A275A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	275	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACTGCCCTGCCGCCTGTACCT	0.418													21	55					0	0	0	0	T	20493433	C	T	20493433	2	4	332	1	0	0	0	0	0	0	0	1	14828	639	23	1		1	SLIT2	4	20493433	Silent	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	13629006	20493433	170660843	24	61663											
FRYL	285527	broad.mit.edu	37	chr4	48523169	48523169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgctgccagtggaatcttCagactggagaagtaagtcag	12	9	13	7	0	3	2	2	0	1	2	3	5	3	3	1	2	2	2	1	2	3	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:48523169C>T	ENST00000537810.1	-	55	8189	c.7585G>A	c.(7585-7587)Gaa>Aaa	p.E2529K	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.E2529K|FRYL_ENST00000358350.4_Missense_Mutation_p.E2529K|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	2529					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTGGAATCTTCAGACTGGAGA	0.423													8	60					0	0	0	0	T	48523169	C	T	48523169	3	4	332	1	0	0	0	0	1	0	0	0	6112	835	29	2	1496	2	FRYL	4	48523169	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	28029736	48523169	142631107	25	61664											
FRAS1	80144	broad.mit.edu	37	chr4	79328996	79328996	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgactccttccgcttcgagGtaccctctgcttcctgactt	4	13	8	16	3	1	1	0	1	1	0	5	3	4	1	4	1	2	3	4	1	1	5			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:79328996G>C	ENST00000264895.6	+	31	4748		c.e31+1		FRAS1_ENST00000325942.6_Splice_Site	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1						cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCGCTTCGAGGTACCCTCTGC	0.483													5	18					0	0	0	0	C	79328996	G	C	79328996	5	2	332	1	0	0	0	0	0	0	1	0	6089	1275	44	4	4431	4	FRAS1	4	79328996	Splice_Site	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	30805827	79328996	111825280	26	61665											
WDFY3	23001	broad.mit.edu	37	chr4	85708805	85708805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaatgtaggcatagaccGtgctcaccactggtggattt	10	11	10	10	1	1	1	1	0	0	1	1	2	1	2	3	3	2	3	3	3	4	4			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:85708805G>A	ENST00000322366.6	-	23	4138	c.3731C>T	c.(3730-3732)aCg>aTg	p.T1244M	WDFY3_ENST00000295888.4_Missense_Mutation_p.T1244M			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1244						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGCATAGACCGTGCTCACCAC	0.483													15	42					0	0	0	0	A	85708805	G	A	85708805	3	1	332	1	0	0	0	0	1	0	0	0	17366	1145	40	1	7033	1	WDFY3	4	85708805	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	6379809	85708805	105445471	27	61666											
NFKB1	4790	broad.mit.edu	37	chr4	103500169	103500169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaggcgcctggaacccGtggtatcagacgccatctat	10	8	10	13	3	3	1	2	0	1	1	3	2	3	2	3	3	1	1	3	3	4	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:103500169G>A	ENST00000226574.4	+	8	1170	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000394820.4_Missense_Mutation_p.V234M|NFKB1_ENST00000600343.1_Missense_Mutation_p.V54M|NFKB1_ENST00000505458.1_Missense_Mutation_p.V234M	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	234	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	CCTGGAACCCGTGGTATCAGA	0.537													18	64					0	0	0	0	A	103500169	G	A	103500169	3	1	332	1	0	0	0	0	1	0	0	0	10445	1145	40	1	729	1	NFKB1	4	103500169	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	17791364	103500169	87654107	28	61667											
ENPEP	2028	broad.mit.edu	37	chr4	111397844	111397844	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggacagtggaaaaactttCgactgccggacttcgtcaac	11	8	11	11	4	1	0	1	0	0	0	3	4	1	3	1	3	3	0	1	3	3	2	rs143343563		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:111397844C>T	ENST00000265162.5	+	1	616	c.274C>T	c.(274-276)Cga>Tga	p.R92*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	92					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GAAAAACTTTCGACTGCCGGA	0.612													15	97					0	0	0	0	T	111397844	C	T	111397844	4	4	332	1	0	0	0	0	0	1	0	0	5166	876	31	1	276	1	ENPEP	4	111397844	Nonsense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	7897675	111397844	79756432	29	61668											
PCDH10	57575	broad.mit.edu	37	chr4	134084326	134084326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcccagcctggggcagagCggtccttttccacctttggc	6	9	12	14	1	0	1	0	0	0	1	2	1	2	1	5	4	3	1	5	4	1	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:134084326C>T	ENST00000264360.4	+	4	3818	c.2992C>T	c.(2992-2994)Cgg>Tgg	p.R998W		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	998					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R998W(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGGGCAGAGCGGTCCTTTTC	0.547													9	174					0	0	0	0	T	134084326	C	T	134084326	3	4	332	1	0	0	0	0	1	0	0	0	11578	759	27	1	3066	1	PCDH10	4	134084326	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	22686482	134084326	57069950	30	61669											
FBXW7	55294	broad.mit.edu	37	chr4	153247168	153247168	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagatcttacctgtaatgaaTagactctattagtatgcccc	12	13	7	9	0	2	3	0	1	2	2	2	4	2	3	3	0	2	2	3	0	7	6			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:153247168T>C	ENST00000281708.4	-	10	2863	c.1634A>G	c.(1633-1635)tAt>tGt	p.Y545C	FBXW7_ENST00000393956.3_Missense_Mutation_p.Y369C|FBXW7_ENST00000296555.5_Missense_Mutation_p.Y427C|FBXW7_ENST00000603548.1_Missense_Mutation_p.Y545C|FBXW7_ENST00000603841.1_Missense_Mutation_p.Y545C|FBXW7_ENST00000263981.5_Missense_Mutation_p.Y465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	545					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.Y545C(3)|p.Y306C(1)|p.Y427C(1)|p.Y465C(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTGTAATGAATAGACTCTATT	0.403			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								39	53					0	0	0	0	C	153247168	T	C	153247168	3	2	332	1	0	0	0	0	1	0	0	0	5814	1406	49	5	501	5	FBXW7	4	153247168	Missense_Mutation	SNP	T	TCGA-CV-A45R-01A-11D-A24D-08	19162842	153247168	37907108	31	61670											
FAT1	2195	broad.mit.edu	37	chr4	187517847	187517847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggttaaaagtgctgaattCgggatgctctgggatagcag	10	10	16	5	1	1	1	0	1	1	0	2	3	1	3	0	4	3	4	0	4	4	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:187517847C>T	ENST00000441802.2	-	25	13056	c.12847G>A	c.(12847-12849)Gaa>Aaa	p.E4283K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4283					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGCTGAATTCGGGATGCTCT	0.557										HNSCC(5;0.00058)			16	27					0	0	0	0	T	187517847	C	T	187517847	3	4	332	1	0	0	0	0	1	0	0	0	5734	893	31	1	931	1	FAT1	4	187517847	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	34270679	187517847	3636429	32	61671											
DNAH5	1767	broad.mit.edu	37	chr5	13717547	13717547	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgcgcctctcctggacAgtggagtgcaggaaagccac	10	7	12	12	1	1	0	0	0	1	0	2	3	1	3	3	3	4	1	3	3	2	1			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr5:13717547A>G	ENST00000265104.4	-	73	12686	c.12582T>C	c.(12580-12582)acT>acC	p.T4194T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4194	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTCCTGGACAGTGGAGTGCA	0.557									Kartagener syndrome				6	42					0	0	0	0	G	13717547	A	G	13717547	2	3	332	1	0	0	0	0	0	0	0	1	4641	175	7	5		5	DNAH5	5	13717547	Silent	SNP	A	TCGA-CV-A45R-01A-11D-A24D-08		13717547	167197713	33	61672											
GEMIN5	25929	broad.mit.edu	37	chr5	154271032	154271032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcaccttcttctgtgagtCtcaagtctagttctgaaggc	7	14	9	11	0	6	2	2	2	5	0	7	2	6	2	1	1	0	2	1	1	3	4			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr5:154271032C>T	ENST00000285873.7	-	26	4106	c.4031G>A	c.(4030-4032)aGa>aAa	p.R1344K		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1344					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCTGTGAGTCTCAAGTCTAG	0.478													38	85					0	0	0	0	T	154271032	C	T	154271032	3	4	332	1	0	0	0	0	1	0	0	0	6382	913	32	2	507	2	GEMIN5	5	154271032	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	140553485	154271032	26644228	34	61673											
LEMD2	221496	broad.mit.edu	37	chr6	33740486	33740486	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaacgcggtgggactcCgtctggatccgggattcgtt	5	10	14	12	5	1	0	0	0	1	0	4	3	3	3	3	4	2	2	3	4	1	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr6:33740486C>T	ENST00000293760.5	-	9	1450	c.1431G>A	c.(1429-1431)acG>acA	p.T477T	LEMD2_ENST00000508327.1_Silent_p.T175T	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	477						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GGTGGGACTCCGTCTGGATCC	0.622													6	36					0	0	0	0	T	33740486	C	T	33740486	2	4	332	1	0	0	0	0	0	0	0	1	8773	639	23	1		1	LEMD2	6	33740486	Silent	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08		33740486	137374581	35	61674											
COL21A1	81578	broad.mit.edu	37	chr6	56006598	56006598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttaccttgtcaccatctcgCcctggttctcctttgtaacc	5	16	5	15	1	3	0	1	0	2	0	5	0	3	0	5	1	2	2	5	1	2	6			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr6:56006598C>T	ENST00000244728.5	-	12	1924	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	COL21A1_ENST00000535941.1_Silent_p.G509G|COL21A1_ENST00000370819.1_Silent_p.G506G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	509					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACCATCTCGCCCTGGTTCTC	0.358													20	39					0	0	0	0	T	56006598	C	T	56006598	2	4	332	1	0	0	0	0	0	0	0	1	3710	726	26	4		4	COL21A1	6	56006598	Silent	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	22266112	56006598	115108469	36	61675											
HTR1E	3354	broad.mit.edu	37	chr6	87725443	87725443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaatgctattgaatacGccaggaagaggacggccaag	14	6	11	10	2	1	2	1	1	0	1	1	4	1	4	3	3	2	1	3	3	6	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr6:87725443G>A	ENST00000305344.4	+	2	1094	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	HTR1E_ENST00000369584.1_Missense_Mutation_p.A131T	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	131					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TATTGAATACGCCAGGAAGAG	0.572													9	77					0	0	0	0	A	87725443	G	A	87725443	3	1	332	1	0	0	0	0	1	0	0	0	7492	1087	38	1	393	1	HTR1E	6	87725443	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	31718845	87725443	83389624	37	61676											
SYNE1	23345	broad.mit.edu	37	chr6	152694195	152694195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagcagattctttttggtGgagatttgaatgaaaatttt	12	17	10	2	0	1	5	0	2	1	3	1	6	1	5	0	2	1	1	0	2	4	7			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr6:152694195G>A	ENST00000367255.5	-	59	10085	c.9484C>T	c.(9484-9486)Cac>Tac	p.H3162Y	SYNE1_ENST00000448038.1_Missense_Mutation_p.H3169Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.H3162Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.H3201Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.H3169Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3162					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTTTTGGTGGAGATTTGAA	0.388										HNSCC(10;0.0054)			41	118					0	0	0	0	A	152694195	G	A	152694195	3	1	332	1	0	0	0	0	1	0	0	0	15536	1348	47	4	17334	4	SYNE1	6	152694195	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	64968752	152694195	18420872	38	61677											
ZDHHC14	79683	broad.mit.edu	37	chr6	158066812	158066812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttctctgtctggtccatcGttggcctctcaggattccac	4	15	8	14	1	4	0	1	0	4	0	9	1	6	1	3	3	0	1	3	3	0	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr6:158066812G>A	ENST00000359775.5	+	6	1685	c.796G>A	c.(796-798)Gtt>Att	p.V266I	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.V266I|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	266						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CTGGTCCATCGTTGGCCTCTC	0.557													5	35					0	0	0	0	A	158066812	G	A	158066812	3	1	332	1	0	0	0	0	1	0	0	0	17699	1145	40	1	818	1	ZDHHC14	6	158066812	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	5372617	158066812	13048255	39	61678											
TNRC18	84629	broad.mit.edu	37	chr7	5417607	5417607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgagcagccgttcctccCggtgtctggcccggtcgtcc	2	8	12	19	5	1	0	0	0	1	0	5	1	4	0	7	3	2	2	7	3	0	1			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr7:5417607C>T	ENST00000399537.4	-	6	2549	c.2201G>A	c.(2200-2202)cGg>cAg	p.R734Q	TNRC18_ENST00000430969.1_Missense_Mutation_p.R734Q			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	734							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCGTTCCTCCCGGTGTCTGGC	0.682													21	50					0	0	0	0	T	5417607	C	T	5417607	3	4	332	1	0	0	0	0	1	0	0	0	16433	652	23	1	6805	1	TNRC18	7	5417607	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08		5417607	153721056	40	61679											
GBAS	2631	broad.mit.edu	37	chr7	56045863	56045863	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctcgagaagacagctggcTaaaatccttatttgtccgga	12	11	9	9	2	1	2	0	0	1	2	4	4	3	3	2	2	1	2	2	2	4	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr7:56045863T>C	ENST00000322090.3	+	2	166	c.137T>C	c.(136-138)cTa>cCa	p.L46P	GBAS_ENST00000446778.1_Missense_Mutation_p.L46P|GBAS_ENST00000487370.1_3'UTR	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	46						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GACAGCTGGCTAAAATCCTTA	0.403													18	70					0	0	0	0	C	56045863	T	C	56045863	3	2	332	1	0	0	0	0	1	0	0	0	6318	1522	53	5	143	5	GBAS	7	56045863	Missense_Mutation	SNP	T	TCGA-CV-A45R-01A-11D-A24D-08	50628256	56045863	103092800	41	61680											
STX1A	6804	broad.mit.edu	37	chr7	73123401	73123401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagaactcatccatgaagcGgtctcggtccacggtgacag	12	7	11	11	3	2	3	1	2	1	1	5	3	4	3	2	3	2	0	2	3	3	0			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr7:73123401G>A	ENST00000222812.3	-	2	108	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	STX1A_ENST00000395154.3_Missense_Mutation_p.R28C|STX1A_ENST00000395155.3_Missense_Mutation_p.R28C|STX1A_ENST00000395156.3_Missense_Mutation_p.R28C	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	28					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCCATGAAGCGGTCTCGGTCC	0.592													51	100					0	0	0	0	A	73123401	G	A	73123401	3	1	332	1	0	0	0	0	1	0	0	0	15433	1116	39	1	820	1	STX1A	7	73123401	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	17077538	73123401	86015262	42	61681											
ADAM32	203102	broad.mit.edu	37	chr8	39080613	39080613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatcctgaatgtgacatcGctgaaaattgtaatggaacc	14	10	8	9	1	0	3	0	3	0	0	2	4	1	4	2	1	1	2	2	1	5	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr8:39080613G>A	ENST00000379907.4	+	14	1508	c.1381G>A	c.(1381-1383)Gct>Act	p.A461T	ADAM32_ENST00000437682.2_Missense_Mutation_p.A362T|ADAM32_ENST00000519315.1_Missense_Mutation_p.A355T	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	461	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATGTGACATCGCTGAAAATTG	0.338													10	9					0	0	0	0	A	39080613	G	A	39080613	3	1	332	1	0	0	0	0	1	0	0	0	249	1087	38	1	1435	1	ADAM32	8	39080613	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08		39080613	107283409	43	61682											
SFRP1	6422	broad.mit.edu	37	chr8	41122968	41122968	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggacaatcttcttgtcGccattttcttttttcacttc	5	20	6	10	1	4	0	1	0	3	0	6	1	4	1	1	2	0	0	1	2	1	9	rs145952780	byFrequency	TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr8:41122968G>A	ENST00000220772.3	-	3	1000	c.663C>T	c.(661-663)ggC>ggT	p.G221G	SFRP1_ENST00000379845.3_Silent_p.G85G	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	221	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCTTCTTGTCGCCATTTTCTT	0.443													16	56					0	0	0	0	A	41122968	G	A	41122968	2	1	332	1	0	0	0	0	0	0	0	1	14248	1074	38	1		1	SFRP1	8	41122968	Silent	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	2042355	41122968	105241054	44	61683											
CHRNB3	1142	broad.mit.edu	37	chr8	42587393	42587393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtccatcattgttaccGtgtttgtcattaacgttcac	7	16	6	12	2	3	0	3	0	0	0	4	0	4	0	3	0	2	3	3	0	2	5			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr8:42587393G>A	ENST00000289957.2	+	5	1071	c.943G>A	c.(943-945)Gtg>Atg	p.V315M		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	315					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CATTGTTACCGTGTTTGTCAT	0.443													25	217					0	0	0	0	A	42587393	G	A	42587393	3	1	332	1	0	0	0	0	1	0	0	0	3421	1145	40	1	961	1	CHRNB3	8	42587393	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	1464425	42587393	103776629	45	61684											
MCM4	4173	broad.mit.edu	37	chr8	48888359	48888359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctaagggcaaaacaccagCtctaaaataccagcaacttt	17	8	5	11	0	2	0	0	0	2	0	2	0	2	0	2	1	5	3	2	1	7	4			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr8:48888359C>T	ENST00000262105.2	+	15	2659	c.2450C>T	c.(2449-2451)gCt>gTt	p.A817V	MCM4_ENST00000523944.1_Missense_Mutation_p.A817V	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	817					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AAAACACCAGCTCTAAAATAC	0.338													12	26					0	0	0	0	T	48888359	C	T	48888359	3	4	332	1	0	0	0	0	1	0	0	0	9458	797	28	4	2508	4	MCM4	8	48888359	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	6300966	48888359	97475663	46	61685											
RUNX1T1	862	broad.mit.edu	37	chr8	93029456	93029456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaatgactacttacacGttgtcggtgtaaatgaactg	12	12	9	8	2	0	3	0	3	0	0	1	3	0	3	1	1	3	2	1	1	6	4			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr8:93029456G>A	ENST00000523629.1	-	3	678	c.224C>T	c.(223-225)aCg>aTg	p.T75M	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T48M|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T38M|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T38M|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T75M|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T38M|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T86M|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.T38M|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T48M	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	75					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)			CTACTTACACGTTGTCGGTGT	0.388													29	64					0	0	0	0	A	93029456	G	A	93029456	3	1	332	1	0	0	0	0	1	0	0	0	13832	1145	40	1	1630	1	RUNX1T1	8	93029456	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	44141097	93029456	53334566	47	61686											
VLDLR	7436	broad.mit.edu	37	chr9	2648222	2648222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctagaccttataaaaagtCgcctctattggcttgattct	11	14	6	10	1	2	2	0	1	2	1	3	2	2	2	3	1	0	1	3	1	6	7			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr9:2648222C>T	ENST00000382100.2	+	13	2193	c.1837C>T	c.(1837-1839)Cgc>Tgc	p.R613C	VLDLR_ENST00000382099.2_Missense_Mutation_p.R613C	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	613			R -> H (in dbSNP:rs35948251).		cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TATAAAAAGTCGCCTCTATTG	0.378													6	47					0	0	0	0	T	2648222	C	T	2648222	3	4	332	1	0	0	0	0	1	0	0	0	17270	884	31	1	1887	1	VLDLR	9	2648222	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08		2648222	138565209	48	61687											
CDKN2A	1029	broad.mit.edu	37	chr9	21971124	21971125	+	Frame_Shift_Del	DEL	GA	GA	-																															gcgtcgtgcacgggtcgggtGagagtggcggggtcggcgca																										TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr9:21971124_21971125delGA	ENST00000579755.1	-	2	568_569	c.276_277delTC	c.(274-279)tcacfs	p.SH92fs	CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.SH92fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.SH133fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.L27fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.L27fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.L78fs*41(11)|p.L65fs*38(1)|p.0(1)|p.L78fs*67(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.E61_L94del(1)|p.H134fs*>40(1)|p.A68fs*3(1)|p.H134fs*41(1)|p.L78H(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGTCGGGTGAGAGTGGCGGG	0.723		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			21	34	---	---	---	---					-	21971125	GA	-	21971124	7	5	332	1	0	1	0	1	0	0	0	0	3190	1290	45	0	244	0	CDKN2A	9	21971124	Frame_Shift_Del	DEL	GA	TCGA-CV-A45R-01A-11D-A24D-08	19322902	21971124	119242307	49	61688											
PAPPA	5069	broad.mit.edu	37	chr9	119028234	119028234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacatacatccatggaaGtgggtactgtggcgatggca	10	10	13	8	1	1	0	1	0	0	0	2	2	2	1	1	4	2	2	1	4	3	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr9:119028234G>T	ENST00000328252.3	+	8	3200	c.2831G>T	c.(2830-2832)aGt>aTt	p.S944I	PAPPA_ENST00000534838.1_5'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	944			S -> R.		cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATCCATGGAAGTGGGTACTGT	0.433													16	22					1.15088e-07	1.19056e-07	1	0	T	119028234	G	T	119028234	3	4	332	1	0	0	0	0	1	0	0	0	11503	1029	36	4	2861	4	PAPPA	9	119028234	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	97057110	119028234	22185197	50	61689											
GARNL3	84253	broad.mit.edu	37	chr9	130027240	130027240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttccagctctgtctcGgaagacctaggctgtagacg	7	13	11	10	2	2	2	0	0	2	2	4	3	3	3	2	2	1	4	2	2	3	5	rs141855938		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr9:130027240G>A	ENST00000373387.4	+	1	436	c.84G>A	c.(82-84)tcG>tcA	p.S28S	GARNL3_ENST00000314904.5_Silent_p.S28S|GARNL3_ENST00000435213.2_Silent_p.S6S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	28					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCTCTGTCTCGGAAGACCTAG	0.423													21	109					0	0	0	0	A	130027240	G	A	130027240	2	1	332	1	0	0	0	0	0	0	0	1	6290	1103	39	1		1	GARNL3	9	130027240	Silent	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	10999006	130027240	11186191	51	61690											
ATRNL1	26033	broad.mit.edu	37	chr10	117061462	117061462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcatggagtgtatgtggtgCagcagtacgaaacgatgtgt	10	10	16	5	2	0	0	0	0	0	0	0	3	0	1	0	3	4	5	0	3	3	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr10:117061462C>T	ENST00000355044.3	+	17	2853	c.2727C>T	c.(2725-2727)tgC>tgT	p.C909C	ATRNL1_ENST00000423111.2_Silent_p.C6C	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	909	PSI 4.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTATGTGGTGCAGCAGTACGA	0.453													14	53					0	0	0	0	T	117061462	C	T	117061462	2	4	332	1	0	0	0	0	0	0	0	1	1211	718	25	4		4	ATRNL1	10	117061462	Silent	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08		117061462	18473285	52	61691											
LDHAL6A	160287	broad.mit.edu	37	chr11	18497038	18497038	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atcttaacttatgtagcctgGaagttgagtggatttcccaa	11	14	9	7	0	1	1	0	1	1	0	2	3	2	3	2	2	2	2	2	2	5	5			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr11:18497038G>C	ENST00000280706.2	+	4	1241	c.444G>C	c.(442-444)tgG>tgC	p.W148C	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.W148C|TSG101_ENST00000536719.1_Intron	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	148					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	ATGTAGCCTGGAAGTTGAGTG	0.363													15	79					0	0	0	0	C	18497038	G	C	18497038	3	2	332	1	0	0	0	0	1	0	0	0	8752	1183	41	2	458	2	LDHAL6A	11	18497038	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08		18497038	116509478	53	61692											
P2RX3	5024	broad.mit.edu	37	chr11	57114618	57114618	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtctttgtcatcatcaccaAgatgattgttactgaaaatc	12	14	7	8	0	4	3	3	2	1	1	5	3	4	3	1	1	1	1	1	1	4	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr11:57114618A>G	ENST00000263314.2	+	3	318	c.284A>G	c.(283-285)aAg>aGg	p.K95R		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	95					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						ATCATCACCAAGATGATTGTT	0.483													5	18					0	0	0	0	G	57114618	A	G	57114618	3	3	332	1	0	0	0	0	1	0	0	0	11412	72	3	5	294	5	P2RX3	11	57114618	Missense_Mutation	SNP	A	TCGA-CV-A45R-01A-11D-A24D-08	38617580	57114618	77891898	54	61693											
ACTN3	89	broad.mit.edu	37	chr11	66329094	66329094	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgacaataagcacaccGtctacagcatggaggtggga	12	8	12	9	2	1	0	0	0	1	0	2	3	1	2	1	3	3	3	1	3	3	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr11:66329094G>A	ENST00000513398.1	+	0	2258				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TAAGCACACCGTCTACAGCAT	0.567													15	12					0	0	0	0	A	66329094	G	A	66329094	1	1	332	0	1	0	0	0	0	0	0	0	206	1145	40	1		1	ACTN3	11	66329094	RNA	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	9214476	66329094	68677422	55	61694											
ANO1	55107	broad.mit.edu	37	chr11	69933970	69933970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaccatcacaagaggccctCgggcaaccggaccctggtca	10	5	11	15	2	2	1	2	0	0	1	3	2	2	2	4	4	2	2	4	4	3	1			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr11:69933970C>T	ENST00000355303.5	+	2	526	c.221C>T	c.(220-222)tCg>tTg	p.S74L	ANO1_ENST00000398543.2_5'UTR|ANO1_ENST00000316296.5_Missense_Mutation_p.S46L|ANO1_ENST00000530676.1_5'UTR|ANO1_ENST00000538023.1_Missense_Mutation_p.S74L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	74					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AAGAGGCCCTCGGGCAACCGG	0.652													4	27					0	0	0	0	T	69933970	C	T	69933970	3	4	332	1	0	0	0	0	1	0	0	0	694	893	31	1	227	1	ANO1	11	69933970	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	3604876	69933970	65072546	56	61695											
OR10G7	390265	broad.mit.edu	37	chr11	123908787	123908787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttaactattcaccctgagCaaatactgacccatttttca	12	14	3	12	0	3	2	2	2	1	0	3	2	3	2	2	0	3	1	2	0	4	6			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr11:123908787C>A	ENST00000330487.5	-	1	930	c.922G>T	c.(922-924)Gct>Tct	p.A308S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCACCCTGAGCAAATACTGAC	0.368													10	17					2.17888e-05	2.21581e-05	1	0	A	123908787	C	A	123908787	3	1	332	1	0	0	0	0	1	0	0	0	10973	710	25	4	17	4	OR10G7	11	123908787	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	53974817	123908787	11097729	57	61696											
ABCC9	10060	broad.mit.edu	37	chr12	22068678	22068678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattggcaattttccaattGccttcagatcaataggcttt	10	16	6	9	0	2	1	2	0	0	1	3	1	3	1	2	2	1	2	2	2	5	8			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr12:22068678G>A	ENST00000261200.4	-	5	739	c.740C>T	c.(739-741)gCa>gTa	p.A247V	ABCC9_ENST00000261201.4_Missense_Mutation_p.A247V|ABCC9_ENST00000345162.2_Missense_Mutation_p.A247V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	247					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTTCCAATTGCCTTCAGATC	0.363													31	46					0	0	0	0	A	22068678	G	A	22068678	3	1	332	1	0	0	0	0	1	0	0	0	59	1319	46	4	4187	4	ABCC9	12	22068678	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08		22068678	111783217	58	61697											
SCN8A	6334	broad.mit.edu	37	chr12	52100401	52100401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaggagaaaggggatcccGagaaggtgtttaagtcagag	14	6	17	4	1	1	4	1	0	0	4	2	8	2	5	1	4	0	1	1	4	3	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr12:52100401G>A	ENST00000354534.5	+	11	1715	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	SCN8A_ENST00000550891.1_Missense_Mutation_p.E513K|SCN8A_ENST00000545061.1_Missense_Mutation_p.E513K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	513					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGGGGATCCCGAGAAGGTGTT	0.453													3	17					0	0	0	0	A	52100401	G	A	52100401	3	1	332	1	0	0	0	0	1	0	0	0	14011	1059	37	1	1575	1	SCN8A	12	52100401	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	30031723	52100401	81751494	59	61698											
METTL1	4234	broad.mit.edu	37	chr12	58162916	58162916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttgaggtgcctagatgtcCcacaacggggtcttcactct	8	11	11	11	1	3	2	1	1	2	1	4	2	4	2	2	3	2	1	2	3	2	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr12:58162916C>T	ENST00000324871.7	-	6	1403	c.694G>A	c.(694-696)Gga>Aga	p.G232R	METTL1_ENST00000257848.7_3'UTR	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	methyltransferase like 1	232						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			CCTAGATGTCCCACAACGGGG	0.532													14	75					0	0	0	0	T	58162916	C	T	58162916	3	4	332	1	0	0	0	0	1	0	0	0	9562	632	22	4	140	4	METTL1	12	58162916	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	6062515	58162916	75688979	60	61699											
MYF5	4617	broad.mit.edu	37	chr12	81112670	81112670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agataaaaactccttatccaGcttggattgcttatccaaca	14	12	5	10	0	0	1	0	0	0	1	3	2	3	2	3	1	4	2	3	1	6	5			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr12:81112670G>A	ENST00000228644.3	+	3	760	c.608G>A	c.(607-609)aGc>aAc	p.S203N		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	203					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCCTTATCCAGCTTGGATTGC	0.448													10	88					0	0	0	0	A	81112670	G	A	81112670	3	1	332	1	0	0	0	0	1	0	0	0	10097	971	34	4	618	4	MYF5	12	81112670	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	22949754	81112670	52739225	61	61700											
ACSS3	79611	broad.mit.edu	37	chr12	81545808	81545808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcttctgacttaggctGggttgttggacattcctata	7	14	12	8	0	1	1	0	1	1	0	2	2	2	2	1	4	1	5	1	4	3	7			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr12:81545808G>T	ENST00000548058.1	+	7	1941	c.1031G>T	c.(1030-1032)tGg>tTg	p.W344L	ACSS3_ENST00000548324.1_Missense_Mutation_p.W26L|ACSS3_ENST00000261206.3_Missense_Mutation_p.W343L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	344						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GACTTAGGCTGGGTTGTTGGA	0.323													28	48					3.65163e-15	3.91246e-15	1	0	T	81545808	G	T	81545808	3	4	332	1	0	0	0	0	1	0	0	0	190	1357	47	4	1057	4	ACSS3	12	81545808	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	433138	81545808	52306087	62	61701											
SLITRK1	114798	broad.mit.edu	37	chr13	84453963	84453963	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctaaagaagttcaccggCgtctcacacttgaggtcgct	9	12	9	11	3	3	2	2	1	2	1	5	2	3	2	1	2	0	2	1	2	3	4			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr13:84453963C>T	ENST00000377084.2	-	1	2565	c.1680G>A	c.(1678-1680)acG>acA	p.T560T		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	560	LRRCT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGTTCACCGGCGTCTCACACT	0.532													19	18					0	0	0	0	T	84453963	C	T	84453963	2	4	332	1	0	0	0	0	0	0	0	1	14830	755	27	1		1	SLITRK1	13	84453963	Silent	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08		84453963	30715915	63	61702											
OR10G2	26534	broad.mit.edu	37	chr14	22102277	22102277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacaggtggagaaggccCggcgcctcccatcagcggtg	8	4	15	14	3	1	1	1	0	0	1	2	2	2	1	4	5	2	0	4	5	1	0	rs143483449		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr14:22102277C>T	ENST00000542433.1	-	1	819	c.722G>A	c.(721-723)cGg>cAg	p.R241Q		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GGAGAAGGCCCGGCGCCTCCC	0.547													20	34					0	0	0	0	T	22102277	C	T	22102277	3	4	332	1	0	0	0	0	1	0	0	0	10970	652	23	1	213	1	OR10G2	14	22102277	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08		22102277	85247263	64	61703											
LRFN5	145581	broad.mit.edu	37	chr14	42360709	42360709	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctggtattcatcattattCtgatgatccggtataaggtt	9	17	9	6	1	3	2	2	2	1	0	4	2	4	2	1	3	1	4	1	3	4	7			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr14:42360709C>T	ENST00000298119.4	+	4	2831	c.1642C>T	c.(1642-1644)Ctg>Ttg	p.L548L	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	548						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CATCATTATTCTGATGATCCG	0.413										HNSCC(30;0.082)			35	79					0	0	0	0	T	42360709	C	T	42360709	2	4	332	1	0	0	0	0	0	0	0	1	9005	912	32	2		2	LRFN5	14	42360709	Silent	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	20258432	42360709	64988831	65	61704											
FLVCR2	55640	broad.mit.edu	37	chr14	76045896	76045896	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtggcccaggttttcaTcctgggcatgccctcccgca	4	11	10	16	1	2	0	1	0	1	0	4	0	4	0	4	3	1	3	4	3	0	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr14:76045896T>A	ENST00000238667.4	+	1	937	c.581T>A	c.(580-582)aTc>aAc	p.I194N	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	194					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAGGTTTTCATCCTGGGCATG	0.602													27	50					0	0	0	0	A	76045896	T	A	76045896	3	1	332	1	0	0	0	0	1	0	0	0	5991	1435	50	5	583	5	FLVCR2	14	76045896	Missense_Mutation	SNP	T	TCGA-CV-A45R-01A-11D-A24D-08	33685187	76045896	31303644	66	61705											
EML5	161436	broad.mit.edu	37	chr14	89124669	89124669	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatgctgtcatcataagTccagcgaacatttgtgacat	13	11	7	10	1	2	1	2	1	0	0	3	2	3	1	1	0	4	1	1	0	3	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr14:89124669T>A	ENST00000554922.1	-	26	3987	c.3739A>T	c.(3739-3741)Act>Tct	p.T1247S	EML5_ENST00000380664.5_Missense_Mutation_p.T1247S|EML5_ENST00000352093.5_Missense_Mutation_p.T1209S	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1247						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCATCATAAGTCCAGCGAACA	0.403													20	79					0	0	0	0	A	89124669	T	A	89124669	3	1	332	1	0	0	0	0	1	0	0	0	5138	1667	58	5	2266	5	EML5	14	89124669	Missense_Mutation	SNP	T	TCGA-CV-A45R-01A-11D-A24D-08	13078773	89124669	18224871	67	61706											
APBA2	321	broad.mit.edu	37	chr15	29398898	29398898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcccacggtgatcctggCcaacatgatgaatggcggcc	8	7	12	14	2	0	3	0	3	0	0	1	3	1	3	5	4	2	0	5	4	2	0			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr15:29398898C>A	ENST00000558402.1	+	13	2392	c.1793C>A	c.(1792-1794)gCc>gAc	p.A598D	APBA2_ENST00000561069.1_Missense_Mutation_p.A598D|APBA2_ENST00000558330.1_Missense_Mutation_p.A586D|APBA2_ENST00000558259.1_Missense_Mutation_p.A598D|APBA2_ENST00000411764.1_Missense_Mutation_p.A586D			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	598	PDZ 1.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GTGATCCTGGCCAACATGATG	0.652													16	77					6.31663e-08	6.59126e-08	1	0	A	29398898	C	A	29398898	3	1	332	1	0	0	0	0	1	0	0	0	758	739	26	4	1827	4	APBA2	15	29398898	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08		29398898	73132494	68	61707											
LRRC49	54839	broad.mit.edu	37	chr15	71276586	71276586	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaccctctctgcattcccaGaggaaacagggtatgcaatg	11	8	10	12	0	1	1	0	0	1	1	3	2	2	2	2	2	3	4	2	2	3	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr15:71276586G>C	ENST00000260382.5	+	11	1419	c.1159G>C	c.(1159-1161)Gag>Cag	p.E387Q	LRRC49_ENST00000560158.2_Missense_Mutation_p.E75Q|LRRC49_ENST00000544974.2_Missense_Mutation_p.E377Q|LRRC49_ENST00000560691.1_Missense_Mutation_p.E93Q|LRRC49_ENST00000443425.2_Missense_Mutation_p.E343Q|LRRC49_ENST00000560369.1_Missense_Mutation_p.E392Q|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	387						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TGCATTCCCAGAGGAAACAGG	0.368													4	33					0	0	0	0	C	71276586	G	C	71276586	3	2	332	1	0	0	0	0	1	0	0	0	9070	943	33	2	1201	2	LRRC49	15	71276586	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	41877688	71276586	31254806	69	61708											
MEF2A	4205	broad.mit.edu	37	chr15	100211631	100211631	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagcaaactaaatgaagAtagtgattttattttcaaac	17	14	5	5	0	2	3	2	2	0	1	2	3	2	3	0	0	3	1	0	0	7	7			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr15:100211631A>T	ENST00000338042.6	+	4	681	c.362A>T	c.(361-363)gAt>gTt	p.D121V	MEF2A_ENST00000557785.1_Missense_Mutation_p.D121V|MEF2A_ENST00000558812.1_Missense_Mutation_p.D53V|MEF2A_ENST00000449277.2_Missense_Mutation_p.D53V|MEF2A_ENST00000557942.1_Missense_Mutation_p.D121V|MEF2A_ENST00000453228.2_Missense_Mutation_p.D121V|MEF2A_ENST00000354410.5_Intron			Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	121					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CTAAATGAAGATAGTGATTTT	0.368													10	60					0	0	0	0	T	100211631	A	T	100211631	3	4	332	1	0	0	0	0	1	0	0	0	9524	333	12	5	372	5	MEF2A	15	100211631	Missense_Mutation	SNP	A	TCGA-CV-A45R-01A-11D-A24D-08	28935045	100211631	2319761	70	61709											
PDZD9	255762	broad.mit.edu	37	chr16	21995685	21995685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaggaggtagaggaggaaGagctttcattgtcttgcttc	10	12	14	5	0	2	3	1	0	1	3	3	6	2	6	0	4	2	3	0	4	3	6			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:21995685G>A	ENST00000286143.6	-	5	833	c.512C>T	c.(511-513)tCt>tTt	p.S171F	PDZD9_ENST00000424898.2_Missense_Mutation_p.S233F|PDZD9_ENST00000537222.2_Missense_Mutation_p.S173F			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	233										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						AGAGGAGGAAGAGCTTTCATT	0.448													47	208					0	0	0	0	A	21995685	G	A	21995685	3	1	332	1	0	0	0	0	1	0	0	0	11777	942	33	2	100	2	PDZD9	16	21995685	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08		21995685	68359068	71	61710											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25258204	25258215	+	In_Frame_Del	DEL	GGTTTATCAGTG	GGTTTATCAGTG	-																															ggacaggtatcatctcctttGgtttatcagtggacggagca																										TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:25258204_25258215delGGTTTATCAGTG	ENST00000328086.7	-	5	2105_2116	c.1302_1313delCACTGATAAACC	c.(1300-1314)tca>tc	p.STDKP434del		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	434					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CATCTCCTTTGGTTTATCAGTGGACGGAGCAC	0.495													10	99	---	---	---	---					-	25258215	GGTTTATCAGTG	-	25258204	7	5	332	1	0	1	0	1	0	0	0	0	17782	1348	47	0	1602	0	ZKSCAN2	16	25258204	In_Frame_Del	DEL	GGTTTATCAGTG	TCGA-CV-A45R-01A-11D-A24D-08	3262519	25258204	65096549	72	61711											
XPO6	23214	broad.mit.edu	37	chr16	28145177	28145177	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaccagtgtggagaaggcGtgcgtgggcaggagctccat	9	8	16	8	2	0	1	0	0	0	1	1	3	1	2	2	4	3	2	2	4	2	1			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:28145177G>A	ENST00000304658.5	-	11	2021	c.1521C>T	c.(1519-1521)caC>caT	p.H507H	XPO6_ENST00000565698.1_Silent_p.H493H	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	507					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGGAGAAGGCGTGCGTGGGCA	0.577													7	27					0	0	0	0	A	28145177	G	A	28145177	2	1	332	1	0	0	0	0	0	0	0	1	17544	1136	40	1		1	XPO6	16	28145177	Silent	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	2886973	28145177	62209576	73	61712											
PHKG2	5261	broad.mit.edu	37	chr16	30764756	30764756	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcagtgagctttctccAtgccaacaacattgtgcatc	11	10	9	11	0	1	1	0	1	1	0	3	2	1	2	2	1	6	3	2	1	3	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:30764756A>G	ENST00000563588.1	+	6	673	c.434A>G	c.(433-435)cAt>cGt	p.H145R	PHKG2_ENST00000424889.3_Missense_Mutation_p.H145R|PHKG2_ENST00000328273.7_Missense_Mutation_p.H145R	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	145	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			AGCTTTCTCCATGCCAACAAC	0.557													18	38					0	0	0	0	G	30764756	A	G	30764756	3	3	332	1	0	0	0	0	1	0	0	0	11919	217	8	5	452	5	PHKG2	16	30764756	Missense_Mutation	SNP	A	TCGA-CV-A45R-01A-11D-A24D-08	2619579	30764756	59589997	74	61713											
WWP2	11060	broad.mit.edu	37	chr16	69963428	69963428	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggaggatccccggaccCaggggtaaggacttgggctg	8	6	18	9	1	0	0	0	0	0	0	1	4	1	4	3	7	0	2	3	7	1	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:69963428C>T	ENST00000359154.2	+	12	1413	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_5'UTR|WWP2_ENST00000448661.1_Nonsense_Mutation_p.Q438*|WWP2_ENST00000356003.2_Nonsense_Mutation_p.Q438*|WWP2_ENST00000542271.1_Nonsense_Mutation_p.Q322*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	438					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCCCGGACCCAGGGGTAAGG	0.602											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	52					0	0	0	0	T	69963428	C	T	69963428	4	4	332	1	0	0	0	0	0	1	0	0	17512	595	21	4	1358	4	WWP2	16	69963428	Nonsense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	39198672	69963428	20391325	75	61714											
AP1G1	164	broad.mit.edu	37	chr16	71823313	71823313	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctttctggatcatttctcGttcttcagcttgggttcggg	3	19	10	9	2	6	0	2	0	4	0	8	1	6	1	0	3	1	3	0	3	0	7			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:71823313G>A	ENST00000299980.4	-	2	511	c.70C>T	c.(70-72)Cga>Tga	p.R24*	AP1G1_ENST00000433195.2_Nonsense_Mutation_p.R47*|AP1G1_ENST00000423132.2_Nonsense_Mutation_p.R24*|AP1G1_ENST00000393512.3_Nonsense_Mutation_p.R24*|AP1G1_ENST00000570297.1_5'UTR|AP1G1_ENST00000569748.1_Nonsense_Mutation_p.R24*	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	24					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ATCATTTCTCGTTCTTCAGCT	0.463													12	68					0	0	0	0	A	71823313	G	A	71823313	4	1	332	1	0	0	0	0	0	1	0	0	733	1153	40	1	2499	1	AP1G1	16	71823313	Nonsense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	1859885	71823313	18531440	76	61715											
CNTNAP4	85445	broad.mit.edu	37	chr16	76572189	76572189	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaagcttgctgctttttGtgagctccttttacaaagaa	10	14	7	10	0	0	2	0	1	0	1	1	2	1	2	2	0	5	4	2	0	4	5			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:76572189G>C	ENST00000307431.8	+	20	3554	c.3169G>C	c.(3169-3171)Gtg>Ctg	p.V1057L	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.V985L|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.V1061L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.V1009L|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1058	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCTGCTTTTTGTGAGCTCCTT	0.388													16	81					0	0	0	0	C	76572189	G	C	76572189	3	2	332	1	0	0	0	0	1	0	0	0	3679	1377	48	4	3259	4	CNTNAP4	16	76572189	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	4748876	76572189	13782564	77	61716											
KCNG4	93107	broad.mit.edu	37	chr16	84271067	84271067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggtgtctgggatgcaggcCcccgtctctggaaggcatgg	5	9	17	10	1	2	0	0	0	2	0	3	2	2	2	2	6	1	2	2	6	1	0			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:84271067C>T	ENST00000568181.1	-	2	145	c.25G>A	c.(25-27)Ggc>Agc	p.G9S	KCNG4_ENST00000308251.4_Missense_Mutation_p.G9S			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	9						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGATGCAGGCCCCCGTCTCTG	0.582													34	60					0	0	0	0	T	84271067	C	T	84271067	3	4	332	1	0	0	0	0	1	0	0	0	8083	623	22	4	1540	4	KCNG4	16	84271067	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	7698878	84271067	6083686	78	61717											
SCARF1	8578	broad.mit.edu	37	chr17	1538598	1538598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatccccgggactggcagcCgccggaaaggactcgggggc	8	3	17	13	4	0	0	0	0	0	0	2	4	1	3	4	6	1	1	4	6	2	0			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:1538598C>T	ENST00000263071.4	-	11	1996	c.1947G>A	c.(1945-1947)gcG>gcA	p.A649A	SCARF1_ENST00000348987.3_Silent_p.A563A|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	649	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GACTGGCAGCCGCCGGAAAGG	0.701													6	48					0	0	0	0	T	1538598	C	T	1538598	2	4	332	1	0	0	0	0	0	0	0	1	13969	639	23	1		1	SCARF1	17	1538598	Silent	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08		1538598	79656612	79	61718											
TRPV1	7442	broad.mit.edu	37	chr17	3493397	3493397	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagggacaggggcagttCacctgcatgaacacagggcc	10	4	15	12	0	1	1	1	1	0	0	1	2	1	2	3	5	2	3	3	5	1	1			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:3493397C>A	ENST00000174621.6	-	5	1031	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	TRPV1_ENST00000571088.1_Nonsense_Mutation_p.E250*|TRPV1_ENST00000399756.4_Nonsense_Mutation_p.E250*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.E250*|SHPK_ENST00000572705.1_Nonsense_Mutation_p.E250*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.E250*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.E250*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.E250*			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	250					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGGGGCAGTTCACCTGCATGA	0.642													13	10					4.36969e-10	4.59967e-10	1	0	A	3493397	C	A	3493397	4	1	332	1	0	0	0	0	0	1	0	0	16690	835	29	2	1488	2	TRPV1	17	3493397	Nonsense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	1954799	3493397	77701813	80	61719											
TP53	7157	broad.mit.edu	37	chr17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtgcgccggtctctcccagGacaggcacaaacacgcacct	9	6	10	16	3	1	0	0	0	1	0	3	1	2	1	3	3	2	2	3	3	1	0	rs17849781		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:7577106G>A	ENST00000420246.2	-	8	964	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCTCCCAGGACAGGCACAA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	18					0	0	0	0	A	7577106	G	A	7577106	3	1	332	1	0	0	0	0	1	0	0	0	16476	1174	41	2	454	2	TP53	17	7577106	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	4083709	7577106	73618104	81	61720											
ALDH3A1	218	broad.mit.edu	37	chr17	19645912	19645912	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctcgccatgttctcactCagctccgagggcttgaggac	7	9	12	13	2	2	1	2	1	1	0	5	3	3	2	2	3	1	4	2	3	0	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:19645912C>T	ENST00000457500.2	-	3	755	c.426G>A	c.(424-426)ctG>ctA	p.L142L	ALDH3A1_ENST00000395555.3_Silent_p.L142L|ALDH3A1_ENST00000444455.1_Silent_p.L142L|ALDH3A1_ENST00000225740.6_Silent_p.L142L|ALDH3A1_ENST00000494157.2_Silent_p.L69L	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	142					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TGTTCTCACTCAGCTCCGAGG	0.602													14	71					0	0	0	0	T	19645912	C	T	19645912	2	4	332	1	0	0	0	0	0	0	0	1	497	813	29	2		2	ALDH3A1	17	19645912	Silent	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	12068806	19645912	61549298	82	61721											
GPATCH8	23131	broad.mit.edu	37	chr17	42475271	42475271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggggtgagggtgaatgcCgatggcggcagcagctgcgg	7	6	21	7	3	0	2	0	2	0	0	0	3	0	2	1	6	4	3	1	6	1	0			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:42475271C>T	ENST00000434000.1	-	9	4222	c.3940G>A	c.(3940-3942)Ggc>Agc	p.G1314S	GPATCH8_ENST00000591680.1_Missense_Mutation_p.G1392S			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1392						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGGTGAATGCCGATGGCGGCA	0.567													11	48					0	0	0	0	T	42475271	C	T	42475271	3	4	332	1	0	0	0	0	1	0	0	0	6643	652	23	1	338	1	GPATCH8	17	42475271	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	22829359	42475271	38719939	83	61722											
RAD51C	5889	broad.mit.edu	37	chr17	56772397	56772397	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacatctgagtcacacaagaAgtgtacagcactggaacttc	14	9	8	10	0	2	2	1	1	1	1	3	3	2	3	0	1	4	2	0	1	5	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:56772397A>T	ENST00000337432.4	+	2	322	c.251A>T	c.(250-252)aAg>aTg	p.K84M	RAD51C_ENST00000583539.1_Missense_Mutation_p.K84M|RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000421782.2_Missense_Mutation_p.K84M	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	84					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACACAAGAAGTGTACAGCA	0.433								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				20	52					0	0	0	0	T	56772397	A	T	56772397	3	4	332	1	0	0	0	0	1	0	0	0	13070	72	3	5	257	5	RAD51C	17	56772397	Missense_Mutation	SNP	A	TCGA-CV-A45R-01A-11D-A24D-08	14297126	56772397	24422813	84	61723											
CBX2	84733	broad.mit.edu	37	chr17	77755584	77755584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgtcctcctgcagccGgcgctccaagctcaaggtgg	6	8	12	15	2	1	0	1	0	0	0	4	0	4	0	5	3	4	3	5	3	2	0			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:77755584G>A	ENST00000310942.4	+	4	376	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	CBX2_ENST00000269399.5_Missense_Mutation_p.R91Q	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	91	Ser-rich.				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCCTGCAGCCGGCGCTCCAAG	0.657													14	82					0	0	0	0	A	77755584	G	A	77755584	3	1	332	1	0	0	0	0	1	0	0	0	2743	1116	39	1	286	1	CBX2	17	77755584	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	20983187	77755584	3439626	85	61724											
DSG3	1830	broad.mit.edu	37	chr18	29055668	29055668	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatgactgcttgttgatCtatgataatgaaggcgcaga	13	11	11	6	1	1	5	0	4	1	1	1	5	1	5	0	1	1	4	0	1	4	4			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr18:29055668C>A	ENST00000257189.4	+	16	2528	c.2445C>A	c.(2443-2445)atC>atA	p.I815I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	815					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTTGTTGATCTATGATAATG	0.453													27	43					2.24059e-21	2.42226e-21	1	0	A	29055668	C	A	29055668	2	1	332	1	0	0	0	0	0	0	0	1	4814	903	32	2		2	DSG3	18	29055668	Silent	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08		29055668	49021580	86	61725											
DPP9	91039	broad.mit.edu	37	chr19	4694749	4694749	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgactttgtacaaatggcaGaagccggtcttgcattcatt	10	13	10	8	1	2	2	1	1	1	1	2	2	2	2	1	2	3	3	1	2	3	5			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:4694749G>A	ENST00000262960.9	-	13	1717	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	DPP9_ENST00000598800.1_Silent_p.F451F|DPP9_ENST00000594671.1_Silent_p.F451F|DPP9_ENST00000597849.1_Silent_p.F480F	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	451					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ACAAATGGCAGAAGCCGGTCT	0.547													6	21					0	0	0	0	A	4694749	G	A	4694749	2	1	332	1	0	0	0	0	0	0	0	1	4769	933	33	2		2	DPP9	19	4694749	Silent	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08		4694749	54434234	87	61726											
ARHGEF18	23370	broad.mit.edu	37	chr19	7527146	7527146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaagacctgccccagccccGaggcctattccgtggagggg	7	5	14	15	3	0	1	0	0	0	1	1	4	1	2	7	4	2	0	7	4	2	2	rs146371166		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:7527146G>A	ENST00000359920.6	+	11	2250	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.E624K|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R508Q	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	666					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCCCAGCCCCGAGGCCTATTC	0.602													19	78					0	0	0	0	A	7527146	G	A	7527146	3	1	332	1	0	0	0	0	1	0	0	0	903	1058	37	1	2039	1	ARHGEF18	19	7527146	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	2832397	7527146	51601837	88	61727											
JUND	3727	broad.mit.edu	37	chr19	18391914	18391914	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctcgctggccgccacCttggggtagaggaactgtga	6	9	14	12	2	0	2	0	1	0	1	2	3	1	3	4	4	2	3	4	4	2	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:18391914C>T	ENST00000252818.3	-	1	518	c.381G>A	c.(379-381)aaG>aaA	p.K127K		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	127					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						TGGCCGCCACCTTGGGGTAGA	0.677													5	15					0	0	0	0	T	18391914	C	T	18391914	2	4	332	1	0	0	0	0	0	0	0	1	8024	680	24	4		4	JUND	19	18391914	Silent	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	10864768	18391914	40737069	89	61728											
EML2	24139	broad.mit.edu	37	chr19	46120937	46120937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccactggggtggaagcCggctgagcgggcagggtcct	7	5	19	10	2	0	2	0	1	0	1	1	3	1	3	3	6	3	2	3	6	1	0	rs142161460		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:46120937C>T	ENST00000536630.1	-	16	1852	c.1714G>A	c.(1714-1716)Ggc>Agc	p.G572S	EML2_ENST00000245925.3_Missense_Mutation_p.G425S|EML2_ENST00000589876.1_Missense_Mutation_p.G425S|EML2_ENST00000587152.1_Missense_Mutation_p.G626S	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	425					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GGGTGGAAGCCGGCTGAGCGG	0.612													5	27					0	0	0	0	T	46120937	C	T	46120937	3	4	332	1	0	0	0	0	1	0	0	0	5135	652	23	1	704	1	EML2	19	46120937	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	27729023	46120937	13008046	90	61729											
PRMT1	3276	broad.mit.edu	37	chr19	50185257	50185257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaaggtggtgctggacGtcggctcgggcaccggcatc	7	6	17	11	4	0	0	0	0	0	0	3	2	0	2	1	7	1	4	1	7	1	0			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:50185257G>A	ENST00000532489.1	+	4	651	c.145G>A	c.(145-147)Gtc>Atc	p.V49I	PRMT1_ENST00000454376.2_Missense_Mutation_p.V95I|PRMT1_ENST00000391851.4_Missense_Mutation_p.V77I			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	76						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GGTGCTGGACGTCGGCTCGGG	0.642													7	59					0	0	0	0	A	50185257	G	A	50185257	3	1	332	1	0	0	0	0	1	0	0	0	12615	1145	40	1	297	1	PRMT1	19	50185257	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	4064320	50185257	8943726	91	61730											
KIR3DL2	3812	broad.mit.edu	37	chr19	55378031	55378031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcacagttggatcactgcGttttcatacagagaaaaatc	14	10	8	9	2	2	1	2	0	0	1	3	3	2	2	0	1	2	3	0	1	3	4			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:55378031G>A	ENST00000326321.3	+	9	1246	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.V405I|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.V388I	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	405					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGATCACTGCGTTTTCATACA	0.512													50	221					0	0	0	0	A	55378031	G	A	55378031	3	1	332	1	0	0	0	0	1	0	0	0	8373	1145	40	1	1247	1	KIR3DL2	19	55378031	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	5192774	55378031	3750952	92	61731											
ZNF831	128611	broad.mit.edu	37	chr20	57768620	57768620	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccaggtgggcccacgcAgcctgcctctttgtcatccc	5	8	10	18	1	2	0	1	0	1	0	3	1	3	0	6	2	2	1	6	2	0	1			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr20:57768620A>G	ENST00000371030.2	+	1	2546	c.2546A>G	c.(2545-2547)cAg>cGg	p.Q849R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	849						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGCCCACGCAGCCTGCCTCT	0.637													28	61					0	0	0	0	G	57768620	A	G	57768620	3	3	332	1	0	0	0	0	1	0	0	0	18278	188	7	5	2548	5	ZNF831	20	57768620	Missense_Mutation	SNP	A	TCGA-CV-A45R-01A-11D-A24D-08		57768620	5256900	93	61732											
DNAJC5	80331	broad.mit.edu	37	chr20	62562306	62562306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtaagcccaaggcgcctGaaggcgaggagacggagttc	11	5	16	9	3	0	2	0	1	0	1	1	5	0	3	2	4	1	2	2	4	3	2			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr20:62562306G>A	ENST00000360864.4	+	4	577	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	DNAJC5_ENST00000369911.2_Missense_Mutation_p.E142K	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	142					neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAAGGCGCCTGAAGGCGAGGA	0.632													7	66					0	0	0	0	A	62562306	G	A	62562306	3	1	332	1	0	0	0	0	1	0	0	0	4686	1291	45	2	434	2	DNAJC5	20	62562306	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	4793686	62562306	463214	94	61733											
DSCAM	1826	broad.mit.edu	37	chr21	41385129	41385129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccacgactgtccttctctCgtggaggaggcggaggaggc	6	8	16	11	3	1	0	0	0	1	0	4	5	2	4	2	6	1	0	2	6	0	1			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr21:41385129C>T	ENST00000400454.1	-	33	6348	c.5871G>A	c.(5869-5871)acG>acA	p.T1957T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1957				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTCCTTCTCTCGTGGAGGAGG	0.627													14	34					0	0	0	0	T	41385129	C	T	41385129	2	4	332	1	0	0	0	0	0	0	0	1	4804	871	31	1		1	DSCAM	21	41385129	Silent	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08		41385129	6744766	95	61734											
FAM3B	54097	broad.mit.edu	37	chr21	42720565	42720565	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagcacttggaagtaaaGaaatcaggaacatgaaattc	19	8	9	5	0	1	3	1	1	0	2	2	5	1	5	0	2	2	2	0	2	8	4			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr21:42720565G>T	ENST00000398652.3	+	8	715	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	FAM3B_ENST00000398646.3_Nonsense_Mutation_p.E201*|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000357985.2_Nonsense_Mutation_p.E178*|FAM3B_ENST00000398647.3_Nonsense_Mutation_p.E130*			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	178					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				TGGAAGTAAAGAAATCAGGAA	0.438													9	32					3.09899e-07	3.17845e-07	1	0	T	42720565	G	T	42720565	4	4	332	1	0	0	0	0	0	1	0	0	5604	943	33	2	558	2	FAM3B	21	42720565	Nonsense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	1335436	42720565	5409330	96	61735											
RIPK4	54101	broad.mit.edu	37	chr21	43164073	43164073	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttcccgctcaaaggacagCgacagtgatcctctggaaga	11	7	12	11	2	2	2	1	1	1	1	4	5	4	4	2	3	1	2	2	3	2	1			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr21:43164073C>T	ENST00000352483.2	-	8	1372	c.1308G>A	c.(1306-1308)tcG>tcA	p.S436S	RIPK4_ENST00000542057.1_Silent_p.S325S|RIPK4_ENST00000544709.1_Silent_p.S325S|RIPK4_ENST00000332512.3_Silent_p.S388S			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	388						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						CAAAGGACAGCGACAGTGATC	0.627													21	56					0	0	0	0	T	43164073	C	T	43164073	2	4	332	1	0	0	0	0	0	0	0	1	13468	755	27	1		1	RIPK4	21	43164073	Silent	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	443508	43164073	4965822	97	61736											
DIP2A	23181	broad.mit.edu	37	chr21	47965129	47965129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaatatgcgtcagttcCagtgcaactggcacagcgta	12	8	12	9	2	1	1	1	0	0	1	2	2	2	1	1	2	4	4	1	2	4	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr21:47965129C>T	ENST00000318711.7	+	19	2442	c.2259C>T	c.(2257-2259)tcC>tcT	p.S753S	DIP2A_ENST00000417564.2_Silent_p.S752S|DIP2A_ENST00000427143.2_Silent_p.S688S|DIP2A_ENST00000435722.3_Silent_p.S752S|DIP2A_ENST00000400274.1_Silent_p.S748S|DIP2A_ENST00000457905.3_Silent_p.S752S|DIP2A_ENST00000466639.1_Silent_p.S709S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	752					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCGTCAGTTCCAGTGCAACTG	0.388													8	50					0	0	0	0	T	47965129	C	T	47965129	2	4	332	1	0	0	0	0	0	0	0	1	4564	581	21	4		4	DIP2A	21	47965129	Silent	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	4801056	47965129	164766	98	61737											
SEZ6L	23544	broad.mit.edu	37	chr22	26688728	26688728	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagggtcccagccagcgTcccagggcctagatctcctc	6	6	13	16	1	1	1	0	0	1	1	5	1	3	1	5	3	2	1	5	3	1	1			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr22:26688728T>C	ENST00000529632.2	+	2	647	c.451T>C	c.(451-453)Tcc>Ccc	p.S151P	SEZ6L_ENST00000404234.3_Missense_Mutation_p.S151P|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S151P|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S151P|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S151P|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	151						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCAGCCAGCGTCCCAGGGCCT	0.662													7	50					0	0	0	0	C	26688728	T	C	26688728	3	2	332	1	0	0	0	0	1	0	0	0	14230	1667	58	5	457	5	SEZ6L	22	26688728	Missense_Mutation	SNP	T	TCGA-CV-A45R-01A-11D-A24D-08		26688728	24615838	99	61738											
GALR3	8484	broad.mit.edu	37	chr22	38221104	38221104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtggccgcgctctacgCgctctgctggggtccgcacc	2	7	16	16	6	2	0	0	0	2	0	3	0	3	0	3	5	2	4	3	5	1	1			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr22:38221104C>T	ENST00000249041.2	+	2	759	c.734C>T	c.(733-735)gCg>gTg	p.A245V		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	245					feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					GCGCTCTACGCGCTCTGCTGG	0.786													3	13					0	0	0	0	T	38221104	C	T	38221104	3	4	332	1	0	0	0	0	1	0	0	0	6278	768	27	1	740	1	GALR3	22	38221104	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	11532376	38221104	13083462	100	61739											
KCNJ4	3761	broad.mit.edu	37	chr22	38822960	38822960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggccaccgcggccgccGcagctgcctcctcctccatc	3	6	10	22	5	0	0	0	0	0	0	4	0	3	0	8	2	3	2	8	2	0	0			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr22:38822960G>A	ENST00000303592.3	-	2	1436	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	393	Poly-Ala.				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGCGGCCGCCGCAGCTGCCTC	0.697													47	83					0	0	0	0	A	38822960	G	A	38822960	3	1	332	1	0	0	0	0	1	0	0	0	8106	1087	38	1	163	1	KCNJ4	22	38822960	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	601856	38822960	12481606	101	61740											
SELO	83642	broad.mit.edu	37	chr22	50655514	50655514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgaggaactacatcgCgcagaatgccatcgaggctg	10	7	13	11	4	0	2	0	1	0	1	2	4	0	3	1	2	4	3	1	2	3	1			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr22:50655514C>T	ENST00000380903.2	+	8	1860	c.1802C>T	c.(1801-1803)gCg>gTg	p.A601V	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					AACTACATCGCGCAGAATGCC	0.667													15	77					0	0	0	0	T	50655514	C	T	50655514	3	4	332	1	0	0	0	0	1	0	0	0	14105	768	27	1	1832	1	SELO	22	50655514	Missense_Mutation	SNP	C	TCGA-CV-A45R-01A-11D-A24D-08	11832554	50655514	649052	102	61741											
PLXNB2	23654	broad.mit.edu	37	chr22	50728802	50728802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttcttgttgtccagggccGggcccgtggccacctgctgc	3	10	13	15	2	1	0	0	0	1	0	2	0	2	0	5	3	2	2	5	3	0	3			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr22:50728802G>A	ENST00000449103.1	-	3	352	c.212C>T	c.(211-213)cCg>cTg	p.P71L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P71L			O15031	PLXB2_HUMAN	plexin B2	71	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCCAGGGCCGGGCCCGTGGC	0.642													10	48					0	0	0	0	A	50728802	G	A	50728802	3	1	332	1	0	0	0	0	1	0	0	0	12196	1116	39	1	5444	1	PLXNB2	22	50728802	Missense_Mutation	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08	73288	50728802	575764	103	61742											
PTCHD1	139411	broad.mit.edu	37	chrX	23411378	23411378	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttctagaatacaccaagggGtttgtgcggatatcctggtt	9	13	12	7	1	1	1	0	0	1	1	2	2	2	2	2	4	2	3	2	4	5	6			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chrX:23411378G>A	ENST00000379361.4	+	3	2603	c.1743G>A	c.(1741-1743)ggG>ggA	p.G581G		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	581					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ACACCAAGGGGTTTGTGCGGA	0.393													24	69					0	0	0	0	A	23411378	G	A	23411378	2	1	332	1	0	0	0	0	0	0	0	1	12811	1248	44	4		4	PTCHD1	23	23411378	Silent	SNP	G	TCGA-CV-A45R-01A-11D-A24D-08		23411378	131859182	104	61743											
IL12RB2	3595	broad.mit.edu	37	chr1	67787343	67787343	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtaattttacttggatcCactgtcaatattacatgctc	11	16	5	9	0	1	0	1	0	0	0	3	1	2	1	1	1	3	2	1	1	5	6			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr1:67787343C>T	ENST00000262345.1	+	3	775	c.135C>T	c.(133-135)tcC>tcT	p.S45S	IL12RB2_ENST00000371000.1_Silent_p.S45S|IL12RB2_ENST00000544434.1_Silent_p.S45S|IL12RB2_ENST00000541374.1_Silent_p.S45S	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	45					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TACTTGGATCCACTGTCAATA	0.388													11	63					0	0	0	0	T	67787343	C	T	67787343	2	4	333	1	0	0	0	0	0	0	0	1	7680	581	21	4		4	IL12RB2	1	67787343	Silent	SNP	C	TCGA-CV-A45T-01A-11D-A24D-08		67787343	181463278	1	61744											
GHR	2690	broad.mit.edu	37	chr5	42689050	42689050	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcgagagactttttcAtgccactggacagatgaggt	10	10	12	9	1	1	4	1	2	0	2	1	7	1	5	2	2	2	0	2	2	0	2	rs140501920		TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr5:42689050A>G	ENST00000230882.4	+	4	385	c.195A>G	c.(193-195)tcA>tcG	p.S65S	GHR_ENST00000537449.1_Intron|GHR_ENST00000357703.3_Silent_p.S43S	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	65					2-oxoglutarate metabolic process|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|JAK-STAT cascade|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)	AGACTTTTTCATGCCACTGGA	0.448													5	72					0	0	0	0	G	42689050	A	G	42689050	2	3	333	1	0	0	0	0	0	0	0	1	6422	204	8	5		5	GHR	5	42689050	Silent	SNP	A	TCGA-CV-A45T-01A-11D-A24D-08		42689050	138226210	2	61745											
PCDHA9	9752	broad.mit.edu	37	chr5	140229428	140229428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaggtggccgacgtgaacGacaacgcaccagcgttcgcg	9	5	15	12	7	0	1	0	1	0	0	1	4	0	2	2	3	3	2	2	3	2	1			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr5:140229428G>A	ENST00000378122.3	+	1	2072	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.D450N|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACGTGAACGACAACGCACC	0.662													6	85					0	0	0	0	A	140229428	G	A	140229428	3	1	333	1	0	0	0	0	1	0	0	0	11602	1058	37	1	1350	1	PCDHA9	5	140229428	Missense_Mutation	SNP	G	TCGA-CV-A45T-01A-11D-A24D-08	97540378	140229428	40685832	3	61746											
PTPN12	5782	broad.mit.edu	37	chr7	77212909	77212909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcatatgtagcaactcaagGacctttagcaaatacagtaa	17	9	7	8	0	1	0	1	0	0	0	1	1	1	1	1	1	5	5	1	1	8	6			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr7:77212909G>A	ENST00000248594.6	+	4	595	c.323G>A	c.(322-324)gGa>gAa	p.G108E	PTPN12_ENST00000415482.2_5'UTR|PTPN12_ENST00000435495.2_Intron	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	108	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GCAACTCAAGGACCTTTAGCA	0.299													3	21					0	0	0	0	A	77212909	G	A	77212909	3	1	333	1	0	0	0	0	1	0	0	0	12861	1174	41	2	337	2	PTPN12	7	77212909	Missense_Mutation	SNP	G	TCGA-CV-A45T-01A-11D-A24D-08		77212909	81925754	4	61747											
PILRB	29990	broad.mit.edu	37	chr7	99955866	99955866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaggcagcccctccacaggGcccctctcctgcctggacag	6	6	10	19	0	2	0	1	0	1	0	4	1	3	1	7	3	2	1	7	3	0	0	rs61735533	by1000genomes	TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr7:99955866G>A	ENST00000448382.1	+	6	1424	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	PILRB_ENST00000452089.1_5'UTR|PILRB_ENST00000310771.4_5'UTR|PILRB_ENST00000444073.1_5'UTR|PILRB_ENST00000444874.1_5'UTR			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	0	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCCACAGGGCCCCTCTCCT	0.687													4	58					0	0	0	0	A	99955866	G	A	99955866	3	1	333	1	0	0	0	0	1	0	0	0	11998	1218	42	4		4	PILRB	7	99955866	Missense_Mutation	SNP	G	TCGA-CV-A45T-01A-11D-A24D-08	22742957	99955866	59182797	5	61748											
RP1	6101	broad.mit.edu	37	chr8	55540689	55540689	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttgataagaaacatagttCtctagatgattttgaaaatt	16	15	6	4	0	1	5	0	3	1	2	2	5	1	5	0	0	1	1	0	0	6	8			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr8:55540689C>G	ENST00000220676.1	+	4	4395	c.4247C>G	c.(4246-4248)tCt>tGt	p.S1416C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1416					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAACATAGTTCTCTAGATGAT	0.363													3	27					0	0	0	0	G	55540689	C	G	55540689	3	3	333	1	0	0	0	0	1	0	0	0	13617	913	32	2	4257	2	RP1	8	55540689	Missense_Mutation	SNP	C	TCGA-CV-A45T-01A-11D-A24D-08		55540689	90823333	6	61749											
NCS1	23413	broad.mit.edu	37	chr9	132980238	132980238	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catttgttttcaacgtctttGatgaaaacaaggtgagctgg	11	14	10	6	1	2	3	1	3	1	0	2	3	2	3	0	2	3	2	0	2	4	4			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr9:132980238G>C	ENST00000372398.3	+	3	303	c.217G>C	c.(217-219)Gat>Cat	p.D73H	NCS1_ENST00000458469.1_Missense_Mutation_p.D55H	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	73	EF-hand 2.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						CAACGTCTTTGATGAAAACAA	0.567													5	52					0	0	0	0	C	132980238	G	C	132980238	3	2	333	1	0	0	0	0	1	0	0	0	10310	1290	45	2	241	2	NCS1	9	132980238	Missense_Mutation	SNP	G	TCGA-CV-A45T-01A-11D-A24D-08		132980238	8233193	7	61750											
AGAP11	119385	broad.mit.edu	37	chr10	88769021	88769021	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtcgatccaaaacatgCgtgggaactcccactgcgtg	10	8	11	12	3	0	0	0	0	0	0	3	2	2	1	2	1	5	1	2	1	3	0			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr10:88769021C>T	ENST00000444431.1	+	0	3621				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CCAAAACATGCGTGGGAACTC	0.552													13	152					0	0	0	0	T	88769021	C	T	88769021	1	4	333	0	1	0	0	0	0	0	0	0	367	768	27	1		1	AGAP11	10	88769021	RNA	SNP	C	TCGA-CV-A45T-01A-11D-A24D-08		88769021	46765726	8	61751											
NALCN	259232	broad.mit.edu	37	chr13	101720363	101720363	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagtggaataaaacaaGgagaaattctccacaattat	17	10	6	8	0	2	1	1	0	1	1	4	3	3	2	2	2	1	0	2	2	7	3			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr13:101720363G>A	ENST00000251127.6	-	39	4434	c.4353C>T	c.(4351-4353)tcC>tcT	p.S1451S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1451						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATAAAACAAGGAGAAATTCT	0.323													4	18					0	0	0	0	A	101720363	G	A	101720363	2	1	333	1	0	0	0	0	0	0	0	1	10218	987	35	4		4	NALCN	13	101720363	Silent	SNP	G	TCGA-CV-A45T-01A-11D-A24D-08		101720363	13449515	9	61752											
SIX1	6495	broad.mit.edu	37	chr14	61115498	61115498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtaccactcccgcaggacaCccctcgacttctccttgaag	8	8	7	18	3	1	1	0	1	1	0	4	3	2	2	5	1	1	2	5	1	2	3			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr14:61115498C>T	ENST00000247182.6	-	1	682	c.410G>A	c.(409-411)gGt>gAt	p.G137D	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	137					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCGCAGGACACCCCTCGACTT	0.652													4	52					0	0	0	0	T	61115498	C	T	61115498	3	4	333	1	0	0	0	0	1	0	0	0	14434	507	18	4	452	4	SIX1	14	61115498	Missense_Mutation	SNP	C	TCGA-CV-A45T-01A-11D-A24D-08		61115498	46234042	10	61753											
ITGAL	3683	broad.mit.edu	37	chr16	30531237	30531237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctacctctacgtgctgagCggcatcggggggctgctgct	4	10	14	13	3	2	1	0	1	2	0	3	1	2	1	1	4	6	5	1	4	2	2			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr16:30531237C>T	ENST00000356798.6	+	30	3468	c.3288C>T	c.(3286-3288)agC>agT	p.S1096S	ITGAL_ENST00000433423.2_Silent_p.S330S|ITGAL_ENST00000358164.5_Silent_p.S1012S	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1096					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ACGTGCTGAGCGGCATCGGGG	0.592													8	126					0	0	0	0	T	30531237	C	T	30531237	2	4	333	1	0	0	0	0	0	0	0	1	7939	767	27	1		1	ITGAL	16	30531237	Silent	SNP	C	TCGA-CV-A45T-01A-11D-A24D-08		30531237	59823516	11	61754											
HMHA1	23526	broad.mit.edu	37	chr19	1080060	1080060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtgcgccagctgcagcGggaccaggagcccgatgtgc	7	4	15	15	4	0	0	0	0	0	0	0	3	0	2	4	2	6	2	4	2	0	0			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr19:1080060G>A	ENST00000313093.2	+	13	1877	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	HMHA1_ENST00000543365.1_Missense_Mutation_p.R432Q|HMHA1_ENST00000586866.1_Missense_Mutation_p.R553Q|HMHA1_ENST00000539243.2_Missense_Mutation_p.R565Q|HMHA1_ENST00000536472.1_Missense_Mutation_p.R389Q|HMHA1_ENST00000590577.1_Missense_Mutation_p.R184Q|HMHA1_ENST00000590214.1_Missense_Mutation_p.R576Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	549					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CAGCTGCAGCGGGACCAGGAG	0.677													4	49					0	0	0	0	A	1080060	G	A	1080060	3	1	333	1	0	0	0	0	1	0	0	0	7290	1116	39	1	1696	1	HMHA1	19	1080060	Missense_Mutation	SNP	G	TCGA-CV-A45T-01A-11D-A24D-08		1080060	58048923	12	61755											
ATP8B3	148229	broad.mit.edu	37	chr19	1811703	1811703	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcagggccagctctggtGctcctgggagtctgagcggg	4	8	18	11	1	3	1	1	1	2	0	4	2	4	2	2	5	3	3	2	5	0	0			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr19:1811703G>A	ENST00000539485.1	-	2	266	c.33C>T	c.(31-33)agC>agT	p.S11S	ATP8B3_ENST00000526092.1_Intron|ATP8B3_ENST00000525591.1_Intron|ATP8B3_ENST00000310127.6_Silent_p.S11S			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	11					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		CAGCTCTGGTGCTCCTGGGAG	0.657													3	15					0	0	0	0	A	1811703	G	A	1811703	2	1	333	1	0	0	0	0	0	0	0	1	1200	1310	46	4		4	ATP8B3	19	1811703	Silent	SNP	G	TCGA-CV-A45T-01A-11D-A24D-08	731643	1811703	57317280	13	61756											
SLC17A7	57030	broad.mit.edu	37	chr19	49933867	49933867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgcagggggtgcccccGggggctcagcctcatcctcc	3	6	17	15	1	2	0	2	0	0	0	4	0	4	0	5	6	3	2	5	6	0	0			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr19:49933867G>A	ENST00000221485.3	-	12	1763	c.1592C>T	c.(1591-1593)cCg>cTg	p.P531L	SLC17A7_ENST00000600601.1_Missense_Mutation_p.P464L|SLC17A7_ENST00000543531.1_Missense_Mutation_p.P519L	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	531	Pro-rich.				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	p.P531L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGGTGCCCCCGGGGGCTCAGC	0.662													7	27					0	0	0	0	A	49933867	G	A	49933867	3	1	333	1	0	0	0	0	1	0	0	0	14510	1116	39	1	94	1	SLC17A7	19	49933867	Missense_Mutation	SNP	G	TCGA-CV-A45T-01A-11D-A24D-08	48122164	49933867	9195116	14	61757											
POLD1	5424	broad.mit.edu	37	chr19	50912134	50912134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttacaccacgctccttcGgcccgggactgcacagaaac	9	7	10	15	3	0	1	0	0	0	1	2	2	1	2	3	2	3	3	3	2	2	2			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr19:50912134G>A	ENST00000440232.2	+	15	1921	c.1868G>A	c.(1867-1869)cGg>cAg	p.R623Q	POLD1_ENST00000599857.1_Missense_Mutation_p.R623Q|POLD1_ENST00000595904.1_Missense_Mutation_p.R649Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	623					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACGCTCCTTCGGCCCGGGACT	0.627								DNA polymerases (catalytic subunits)					6	65					0	0	0	0	A	50912134	G	A	50912134	3	1	333	1	0	0	0	0	1	0	0	0	12262	1116	39	1	1922	1	POLD1	19	50912134	Missense_Mutation	SNP	G	TCGA-CV-A45T-01A-11D-A24D-08	978267	50912134	8216849	15	61758											
AP1B1	162	broad.mit.edu	37	chr22	29750746	29750746	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttcttgagcagtgtgccGtagtagtccaagtccttaga	9	12	11	9	1	1	2	0	1	1	1	3	2	3	2	3	0	3	4	3	0	4	5	rs138572174		TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr22:29750746G>T	ENST00000357586.2	-	7	1017	c.831C>A	c.(829-831)taC>taA	p.Y277*	AP1B1_ENST00000402502.1_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000405198.1_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000317368.7_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.Y277*	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	277					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCAGTGTGCCGTAGTAGTCCA	0.572													4	49					1	1	1	0	T	29750746	G	T	29750746	4	4	333	1	0	0	0	0	0	1	0	0	732	1140	40	3	2086	3	AP1B1	22	29750746	Nonsense_Mutation	SNP	G	TCGA-CV-A45T-01A-11D-A24D-08		29750746	21553820	16	61759											
APOL4	80832	broad.mit.edu	37	chr22	36591424	36591424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcagcaggattttcagatGcactgggctaactttcttct	9	14	9	9	0	4	1	2	0	2	1	4	2	4	2	0	2	3	3	0	2	1	5			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr22:36591424G>A	ENST00000405511.1	-	5	564	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	APOL4_ENST00000429038.2_Missense_Mutation_p.H48Y|APOL4_ENST00000332987.1_Missense_Mutation_p.H48Y|APOL4_ENST00000404685.3_Missense_Mutation_p.H51Y|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.H51Y	NM_030643.3	NP_085146.2	Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	51					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						ATTTTCAGATGCACTGGGCTA	0.453											OREG0026515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	55					0	0	0	0	A	36591424	G	A	36591424	3	1	333	1	0	0	0	0	1	0	0	0	810	1319	46	4	910	4	APOL4	22	36591424	Missense_Mutation	SNP	G	TCGA-CV-A45T-01A-11D-A24D-08	6840678	36591424	14713142	17	61760											
CROCC	9696	broad.mit.edu	37	chr1	17280765	17280765	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggcgctgtcagagaagttGatgggtacacggcacagcct	10	7	14	10	3	1	2	1	1	0	1	1	3	1	2	1	3	2	4	1	3	2	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:17280765G>A	ENST00000375541.5	+	22	3303	c.3234G>A	c.(3232-3234)ttG>ttA	p.L1078L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1078					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CAGAGAAGTTGATGGGTACAC	0.642													29	160					0	0	0	0	A	17280765	G	A	17280765	2	1	334	1	0	0	0	0	0	0	0	1	3923	1281	45	2		2	CROCC	1	17280765	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08		17280765	231969856	1	61761											
CPT2	1376	broad.mit.edu	37	chr1	53676585	53676585	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactctactgtcacggtgcaGaaactcaacttcgagctgac	11	9	9	12	2	3	2	2	1	1	1	4	4	3	2	0	1	5	2	0	1	3	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:53676585G>A	ENST00000371486.3	+	4	1754	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	413					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	TCACGGTGCAGAAACTCAACT	0.478													6	27					0	0	0	0	A	53676585	G	A	53676585	2	1	334	1	0	0	0	0	0	0	0	1	3864	933	33	2		2	CPT2	1	53676585	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	36395820	53676585	195574036	2	61762											
USP1	7398	broad.mit.edu	37	chr1	62916495	62916495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatttgagaacaaaatttCatacgtagtgcaaagcttaa	16	12	8	5	1	1	1	1	1	0	1	1	3	1	2	0	1	4	3	0	1	7	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:62916495C>T	ENST00000339950.4	+	9	3016	c.2201C>T	c.(2200-2202)tCa>tTa	p.S734L	USP1_ENST00000371146.1_Missense_Mutation_p.S734L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	734					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AACAAAATTTCATACGTAGTG	0.378													24	48					0	0	0	0	T	62916495	C	T	62916495	3	4	334	1	0	0	0	0	1	0	0	0	17136	838	29	2	2231	2	USP1	1	62916495	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	9239910	62916495	186334126	3	61763											
CTH	1491	broad.mit.edu	37	chr1	70897772	70897772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgttcattttgcagctcttgGagcagttccatctcctattg	6	17	8	10	0	3	0	1	0	2	0	5	1	4	1	2	1	3	5	2	1	1	7			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:70897772G>A	ENST00000411986.2	+	7	833	c.635G>A	c.(634-636)gGa>gAa	p.G212E	CTH_ENST00000370938.3_Missense_Mutation_p.G244E|CTH_ENST00000346806.2_Missense_Mutation_p.G200E	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	244					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GCAGCTCTTGGAGCAGTTCCA	0.438													6	24					0	0	0	0	A	70897772	G	A	70897772	3	1	334	1	0	0	0	0	1	0	0	0	4041	1174	41	2	761	2	CTH	1	70897772	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	7981277	70897772	178352849	4	61764											
CCDC18	343099	broad.mit.edu	37	chr1	93683346	93683346	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaatattaatacagagcatGagaaaatttgtttagccttt	15	14	6	6	0	0	2	0	1	0	2	0	3	0	2	2	0	3	2	2	0	7	7			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:93683346G>C	ENST00000343253.7	+	14	2381	c.1879G>C	c.(1879-1881)Gag>Cag	p.E627Q	CCDC18_ENST00000401026.3_Missense_Mutation_p.E628Q|CCDC18_ENST00000338949.4_Intron|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.E746Q			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	627										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TACAGAGCATGAGAAAATTTG	0.303													11	25					0	0	0	0	C	93683346	G	C	93683346	3	2	334	1	0	0	0	0	1	0	0	0	2820	1291	45	2	2290	2	CCDC18	1	93683346	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	22785574	93683346	155567275	5	61765											
COL11A1	1301	broad.mit.edu	37	chr1	103491398	103491398	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgatgcttgataacttttCttcttcttggatgaaaattt	9	19	7	6	0	3	3	0	3	3	0	3	4	3	4	0	1	2	2	0	1	3	8			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:103491398C>T	ENST00000358392.2	-	6	1208	c.891G>A	c.(889-891)aaG>aaA	p.K297K	COL11A1_ENST00000370096.3_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	297	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATAACTTTTCTTCTTCTTGG	0.363													7	54					0	0	0	0	T	103491398	C	T	103491398	2	4	334	1	0	0	0	0	0	0	0	1	3697	912	32	2		2	COL11A1	1	103491398	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	9808052	103491398	145759223	6	61766											
CELSR2	1952	broad.mit.edu	37	chr1	109805502	109805502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcttcccagtccgaatgcGgcagttcgtgggctgcatgc	6	9	14	12	3	0	0	0	0	0	0	3	2	2	0	2	2	4	5	2	2	1	2	rs150273941		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:109805502G>A	ENST00000271332.3	+	7	4680	c.4619G>A	c.(4618-4620)cGg>cAg	p.R1540Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1540	Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTCCGAATGCGGCAGTTCGTG	0.637													11	51					0	0	0	0	A	109805502	G	A	109805502	3	1	334	1	0	0	0	0	1	0	0	0	3251	1116	39	1	4645	1	CELSR2	1	109805502	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	6314104	109805502	139445119	7	61767											
MTMR11	10903	broad.mit.edu	37	chr1	149907004	149907004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggacggaggagctggaCtcgggacaagccgctcactg	8	5	15	13	3	1	0	1	0	0	0	2	5	1	5	2	5	2	2	2	5	1	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:149907004C>A	ENST00000439741.2	-	5	593	c.343G>T	c.(343-345)Gtc>Ttc	p.V115F	MTMR11_ENST00000369140.3_Missense_Mutation_p.V43F|MTMR11_ENST00000406732.3_Missense_Mutation_p.V87F|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.V115F	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	115							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGGAGCTGGACTCGGGACAAG	0.547													31	56					4.11147e-13	4.56495e-13	1	0	A	149907004	C	A	149907004	3	1	334	1	0	0	0	0	1	0	0	0	10010	565	20	4	1877	4	MTMR11	1	149907004	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	40101502	149907004	99343617	8	61768											
MTMR11	10903	broad.mit.edu	37	chr1	149908102	149908102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgactcctgggctccggCatcctattttcctggacaga	7	11	10	13	2	0	2	0	1	0	1	4	4	4	3	4	3	0	2	4	3	1	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:149908102C>A	ENST00000439741.2	-	2	337	c.87G>T	c.(85-87)atG>atT	p.M29I	MTMR11_ENST00000369140.3_5'UTR|MTMR11_ENST00000406732.3_Start_Codon_SNP_p.M1I|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.M29I	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	29							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGGGCTCCGGCATCCTATTTT	0.557													47	62					5.48756e-27	6.37401e-27	1	0	A	149908102	C	A	149908102	3	1	334	1	0	0	0	0	1	0	0	0	10010	710	25	4	2145	4	MTMR11	1	149908102	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	1098	149908102	99342519	9	61769											
TARS2	80222	broad.mit.edu	37	chr1	150460453	150460453	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaaccccggactattaaGatatcacttcctggaggcca	13	8	9	11	1	1	1	1	0	0	1	2	4	2	4	4	4	1	0	4	4	5	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:150460453G>C	ENST00000369064.3	+	2	220	c.186G>C	c.(184-186)aaG>aaC	p.K62N	TARS2_ENST00000369054.2_Missense_Mutation_p.K62N|TARS2_ENST00000606933.1_Missense_Mutation_p.K62N|TARS2_ENST00000438568.2_Missense_Mutation_p.K62N	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	62					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGACTATTAAGATATCACTTC	0.527													6	58					0	0	0	0	C	150460453	G	C	150460453	3	2	334	1	0	0	0	0	1	0	0	0	15651	933	33	2	192	2	TARS2	1	150460453	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	552351	150460453	98790168	10	61770											
PMVK	10654	broad.mit.edu	37	chr1	154901617	154901617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctccttgtaggtgctGgtgtccaggagtctctggaa	7	11	14	9	0	1	0	0	0	1	0	4	2	3	2	3	5	1	2	3	5	3	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:154901617G>A	ENST00000368467.3	-	3	500	c.195C>T	c.(193-195)acC>acT	p.T65T		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	65					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTAGGTGCTGGTGTCCAGGA	0.547													18	81					0	0	0	0	A	154901617	G	A	154901617	2	1	334	1	0	0	0	0	0	0	0	1	12216	1335	47	4		4	PMVK	1	154901617	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	4441164	154901617	94349004	11	61771											
FCRL3	115352	broad.mit.edu	37	chr1	157666098	157666098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggccggatctctagattCacattagacacagggactcc	10	9	11	11	1	2	2	1	0	1	2	4	4	3	4	2	3	0	0	2	3	2	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:157666098C>T	ENST00000368184.3	-	7	1155	c.864G>A	c.(862-864)gtG>gtA	p.V288V	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.V288V|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	288	Ig-like C2-type 4.					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)					TCTCTAGATTCACATTAGACA	0.522													8	62					0	0	0	0	T	157666098	C	T	157666098	2	4	334	1	0	0	0	0	0	0	0	1	5841	813	29	2		2	FCRL3	1	157666098	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	2764481	157666098	91584523	12	61772											
SPTA1	6708	broad.mit.edu	37	chr1	158639535	158639535	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgatgttctctgaatcataAtggtcatcaccaatcaattt	12	16	5	8	0	5	2	4	2	1	0	6	2	5	2	1	1	0	1	1	1	4	4	rs35932551		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:158639535A>G	ENST00000368148.3	-	13	1821	c.1641T>C	c.(1639-1641)caT>caC	p.H547H	SPTA1_ENST00000368147.3_Silent_p.H547H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	547					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGAATCATAATGGTCATCAC	0.423													18	168					0	0	0	0	G	158639535	A	G	158639535	2	3	334	1	0	0	0	0	0	0	0	1	15206	98	4	5		5	SPTA1	1	158639535	Silent	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	973437	158639535	90611086	13	61773											
POU2F1	5451	broad.mit.edu	37	chr1	167353161	167353161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagccaacctcctacagtcGcagccaagcatcaccctcac	12	5	5	19	1	2	0	2	0	0	0	4	0	3	0	5	0	5	2	5	0	4	1	rs149991945		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:167353161G>A	ENST00000367862.5	+	8	988	c.753G>A	c.(751-753)tcG>tcA	p.S251S	POU2F1_ENST00000367866.2_Silent_p.S262S|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Silent_p.S199S|POU2F1_ENST00000541643.3_Silent_p.S239S|POU2F1_ENST00000452019.1_Silent_p.S239S|POU2F1_ENST00000420254.3_Silent_p.S239S	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	239					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TCCTACAGTCGCAGCCAAGCA	0.438													26	36					0	0	0	0	A	167353161	G	A	167353161	2	1	334	1	0	0	0	0	0	0	0	1	12342	1074	38	1		1	POU2F1	1	167353161	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	8713626	167353161	81897460	14	61774											
IRF6	3664	broad.mit.edu	37	chr1	209964161	209964161	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagaagagtcggcagccctGagggttgctcacggtcatgg	9	8	15	9	2	2	3	2	1	0	2	3	3	2	3	1	4	2	3	1	4	2	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:209964161G>A	ENST00000367021.3	-	7	911	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	IRF6_ENST00000542854.1_Nonsense_Mutation_p.Q152*	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	247					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CGGCAGCCCTGAGGGTTGCTC	0.572										HNSCC(57;0.16)			10	60					0	0	0	0	A	209964161	G	A	209964161	4	1	334	1	0	0	0	0	0	1	0	0	7887	1299	45	2	676	2	IRF6	1	209964161	Nonsense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	42611000	209964161	39286460	15	61775											
IRF6	3664	broad.mit.edu	37	chr1	209965672	209965672	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagggctgtataggtgcctgGggtacttccatctccagggg	7	10	15	9	0	1	0	0	0	1	0	3	0	2	0	3	6	2	3	3	6	4	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:209965672G>A	ENST00000367021.3	-	6	781	c.609C>T	c.(607-609)ccC>ccT	p.P203P	IRF6_ENST00000542854.1_Silent_p.P108P	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	203					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TAGGTGCCTGGGGTACTTCCA	0.542										HNSCC(57;0.16)			15	44					0	0	0	0	A	209965672	G	A	209965672	2	1	334	1	0	0	0	0	0	0	0	1	7887	1219	43	4		4	IRF6	1	209965672	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	1511	209965672	39284949	16	61776											
FLVCR1	28982	broad.mit.edu	37	chr1	213058711	213058711	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggctctattctttgtggctTatggctggattatactaaaa	9	16	10	6	0	2	0	0	0	2	0	2	1	2	1	0	4	1	3	0	4	6	7			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:213058711T>C	ENST00000366971.4	+	5	1367	c.1169T>C	c.(1168-1170)tTa>tCa	p.L390S	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	390					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CTTTGTGGCTTATGGCTGGAT	0.353													13	50					0	0	0	0	C	213058711	T	C	213058711	3	2	334	1	0	0	0	0	1	0	0	0	5990	1764	61	5	1187	5	FLVCR1	1	213058711	Missense_Mutation	SNP	T	TCGA-CV-A45U-01A-12D-A24D-08	3093039	213058711	36191910	17	61777											
KCNK2	3776	broad.mit.edu	37	chr1	215345353	215345353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctagaagtggaatgttaGtcagaccaagattcgcatca	13	10	9	9	1	2	3	2	0	0	3	4	4	3	4	2	1	0	2	2	1	5	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:215345353G>A	ENST00000444842.2	+	5	800	c.650G>A	c.(649-651)aGt>aAt	p.S217N	KCNK2_ENST00000391894.2_Missense_Mutation_p.S202N|KCNK2_ENST00000391895.2_Missense_Mutation_p.S213N	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	217							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TGGAATGTTAGTCAGACCAAG	0.398													17	30					0	0	0	0	A	215345353	G	A	215345353	3	1	334	1	0	0	0	0	1	0	0	0	8119	1029	36	4	711	4	KCNK2	1	215345353	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	2286642	215345353	33905268	18	61778											
BPNT1	10380	broad.mit.edu	37	chr1	220232268	220232268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgtggccaggactcctGcagagttcatatgcttcaca	9	11	10	11	0	3	1	3	0	0	1	4	2	4	2	2	2	2	3	2	2	1	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:220232268G>A	ENST00000469520.2	-	10	1294	c.845C>T	c.(844-846)gCa>gTa	p.A282V	BPNT1_ENST00000322067.7_Missense_Mutation_p.A282V|BPNT1_ENST00000414869.2_Missense_Mutation_p.A246V|BPNT1_ENST00000544404.1_Missense_Mutation_p.A227V|BPNT1_ENST00000354807.3_Intron			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	282					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CAGGACTCCTGCAGAGTTCAT	0.393													14	156					0	0	0	0	A	220232268	G	A	220232268	3	1	334	1	0	0	0	0	1	0	0	0	1502	1319	46	4	85	4	BPNT1	1	220232268	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	4886915	220232268	29018353	19	61779											
CDC42BPA	8476	broad.mit.edu	37	chr1	227213809	227213809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagttcacatcaaagatatCaactgcattttcactgtaca	14	12	6	9	0	4	1	4	0	0	1	4	2	4	2	0	1	3	3	0	1	4	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:227213809C>G	ENST00000366769.3	-	30	5663	c.4372G>C	c.(4372-4374)Gat>Cat	p.D1458H	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D1377H|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D1458H|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D1493H|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D1438H|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D1430H|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D1471H	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1471	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCAAAGATATCAACTGCATTT	0.408													6	38					0	0	0	0	G	227213809	C	G	227213809	3	3	334	1	0	0	0	0	1	0	0	0	3101	826	29	2	815	2	CDC42BPA	1	227213809	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	6981541	227213809	22036812	20	61780											
RYR2	6262	broad.mit.edu	37	chr1	237870491	237870491	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactcagagcacatgaacAcacttctagggaacatattg	15	9	8	9	0	2	3	1	2	1	1	2	4	2	4	0	1	4	1	0	1	5	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:237870491A>T	ENST00000366574.2	+	68	10140	c.9823A>T	c.(9823-9825)Aca>Tca	p.T3275S	RYR2_ENST00000360064.6_Missense_Mutation_p.T3273S|RYR2_ENST00000542537.1_Missense_Mutation_p.T3259S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3275					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCACATGAACACACTTCTAGG	0.473													10	18					0	0	0	0	T	237870491	A	T	237870491	3	4	334	1	0	0	0	0	1	0	0	0	13854	159	6	5	10093	5	RYR2	1	237870491	Missense_Mutation	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	10656682	237870491	11380130	21	61781											
THADA	63892	broad.mit.edu	37	chr2	43520026	43520026	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccaacaataagaacttctCtcccatgttgcacagcaagg	13	8	8	12	0	1	1	0	0	1	1	3	1	2	1	2	2	4	3	2	2	5	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:43520026C>G	ENST00000405006.4	-	32	5116	c.4765G>C	c.(4765-4767)Gag>Cag	p.E1589Q	THADA_ENST00000415080.2_Missense_Mutation_p.E1270Q|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.E1589Q	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1589							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AAGAACTTCTCTCCCATGTTG	0.502													11	58					0	0	0	0	G	43520026	C	G	43520026	3	3	334	1	0	0	0	0	1	0	0	0	15934	922	32	2	1124	2	THADA	2	43520026	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08		43520026	199679347	22	61782											
DYSF	8291	broad.mit.edu	37	chr2	71762192	71762192	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagacggccaaccctcagtgGaaccagaacatcacactgcc	14	4	8	15	1	2	2	2	0	0	2	2	3	2	3	4	2	4	0	4	2	4	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:71762192G>A	ENST00000258104.3	+	14	1603	c.1326G>A	c.(1324-1326)tgG>tgA	p.W442*	DYSF_ENST00000413539.2_Nonsense_Mutation_p.W473*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W474*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.W474*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.W473*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.W474*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.W443*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.W443*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.W443*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.W473*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W442*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	442	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCCTCAGTGGAACCAGAACA	0.622													14	39					0	0	0	0	A	71762192	G	A	71762192	4	1	334	1	0	0	0	0	0	1	0	0	4895	1183	41	2	1572	2	DYSF	2	71762192	Nonsense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	28242166	71762192	171437181	23	61783											
MRPS5	64969	broad.mit.edu	37	chr2	95772185	95772185	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacctcaagtatcctggtatCaaaatcctcatatgtttctg	11	15	5	10	0	4	0	3	0	1	0	6	0	6	0	3	1	1	3	3	1	7	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:95772185C>G	ENST00000272418.2	-	6	863	c.655G>C	c.(655-657)Gat>Cat	p.D219H		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	219	S5 DRBM.				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ATCCTGGTATCAAAATCCTCA	0.438													13	63					0	0	0	0	G	95772185	C	G	95772185	3	3	334	1	0	0	0	0	1	0	0	0	9916	826	29	2	665	2	MRPS5	2	95772185	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	24009993	95772185	147427188	24	61784											
IL18RAP	8807	broad.mit.edu	37	chr2	103053683	103053683	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggattagaatggaaaactCctctctgtggaaaggagcaa	14	10	11	6	0	1	1	0	0	1	1	3	5	2	5	1	4	2	1	1	4	6	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:103053683C>A	ENST00000264260.2	+	6	1180	c.591C>A	c.(589-591)ctC>ctA	p.L197L	IL18RAP_ENST00000409369.1_Silent_p.L55L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	197	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ATGGAAAACTCCTCTCTGTGG	0.348													16	37					3.41278e-10	3.68093e-10	1	0	A	103053683	C	A	103053683	2	1	334	1	0	0	0	0	0	0	0	1	7701	842	30	2		2	IL18RAP	2	103053683	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	7281498	103053683	140145690	25	61785											
DBI	1622	broad.mit.edu	37	chr2	120124575	120124575	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaatctgggcgatcgcttCctggtcctcgcctcctccgc	3	11	10	17	4	1	0	0	0	1	0	7	1	5	0	5	2	1	2	5	2	1	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:120124575C>A	ENST00000535617.1	+	0	23				DBI_ENST00000355857.3_De_novo_Start_OutOfFrame|DBI_ENST00000409094.1_De_novo_Start_InFrame|DBI_ENST00000535757.1_De_novo_Start_OutOfFrame	NM_001178041.1	NP_001171512.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)						transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						GCGATCGCTTCCTGGTCCTCG	0.647													7	15					8.12818e-05	8.40655e-05	1	0	A	120124575	C	A	120124575	1	1	334	1	0	0	0	0	0	0	0	0	4284	870	30	2		2	DBI	2	120124575	Translation_Start_Site	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	17070892	120124575	123074798	26	61786											
TUBA3D	113457	broad.mit.edu	37	chr2	132238255	132238255	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccaaagacgtcaacgCggccatcgccaccatcaaga	12	4	9	16	4	2	2	2	0	0	2	4	2	3	2	5	2	1	0	5	2	3	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:132238255C>G	ENST00000321253.6	+	4	1096	c.989C>G	c.(988-990)gCg>gGg	p.A330G		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	330					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GACGTCAACGCGGCCATCGCC	0.562													26	66					0	0	0	0	G	132238255	C	G	132238255	3	3	334	1	0	0	0	0	1	0	0	0	16843	768	27	3	1003	3	TUBA3D	2	132238255	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	12113680	132238255	110961118	27	61787											
CCNT2	905	broad.mit.edu	37	chr2	135711896	135711896	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaagaggctgcatgtcaAtgatgcatctcacaaccacc	14	7	9	11	0	2	2	2	1	1	1	3	3	2	3	2	2	3	3	2	2	4	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:135711896A>G	ENST00000264157.5	+	9	1901	c.1871A>G	c.(1870-1872)aAt>aGt	p.N624S	CCNT2_ENST00000295238.6_Missense_Mutation_p.N624S|CCNT2_ENST00000537343.1_Missense_Mutation_p.N449S	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	624					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CTGCATGTCAATGATGCATCT	0.473													21	77					0	0	0	0	G	135711896	A	G	135711896	3	3	334	1	0	0	0	0	1	0	0	0	2964	101	4	5	1905	5	CCNT2	2	135711896	Missense_Mutation	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	3473641	135711896	107487477	28	61788											
LRP1B	53353	broad.mit.edu	37	chr2	141201939	141201939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcatcaccacagtcatcttgCccattacatcttaagtttac	11	14	3	13	0	5	0	3	0	2	0	5	0	5	0	2	0	3	1	2	0	3	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:141201939C>T	ENST00000389484.3	-	65	11225	c.10254G>A	c.(10252-10254)ggG>ggA	p.G3418G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3418	LDL-receptor class A 23.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCATCTTGCCCATTACATC	0.388										TSP Lung(27;0.18)			12	53					0	0	0	0	T	141201939	C	T	141201939	2	4	334	1	0	0	0	0	0	0	0	1	9019	726	26	4		4	LRP1B	2	141201939	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	5490043	141201939	101997434	29	61789											
TTN	7273	broad.mit.edu	37	chr2	179593063	179593063	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcactccatatgaatagaAgagcccagaactttatccat	14	11	6	10	0	0	4	0	1	0	3	2	4	2	4	3	0	3	1	3	0	6	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:179593063A>G	ENST00000589042.1	-	67	19712	c.19488T>C	c.(19486-19488)tcT>tcC	p.S6496S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.S6179S|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S5252S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6179	Ig-like 46.						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)			TATGAATAGAAGAGCCCAGAA	0.368													4	15					0	0	0	0	G	179593063	A	G	179593063	2	3	334	1	0	0	0	0	0	0	0	1	16831	59	3	5		5	TTN	2	179593063	Silent	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	38391124	179593063	63606310	30	61790											
COL3A1	1281	broad.mit.edu	37	chr2	189860427	189860428	+	Frame_Shift_Del	DEL	GG	GG	-																															tcactacttagggtcctgctGgagagcgtggtgctccaggc																										TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:189860427_189860428delGG	ENST00000304636.3	+	22	1689_1690	c.1519_1520delGG	c.(1519-1521)afs	p.G507fs	COL3A1_ENST00000317840.5_Frame_Shift_Del_p.G507fs	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	507	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGGTCCTGCTGGAGAGCGTGGT	0.48													2	4	---	---	---	---					-	189860428	GG	-	189860427	7	5	334	1	0	1	0	1	0	0	0	0	3718	1349	47	0	1605	0	COL3A1	2	189860427	Frame_Shift_Del	DEL	GG	TCGA-CV-A45U-01A-12D-A24D-08	10267364	189860427	53338946	31	61791											
PLCL1	5334	broad.mit.edu	37	chr2	199011517	199011517	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtagggccaaggagatcTgttgaagaatgccaagaatg	13	10	13	5	0	1	4	0	1	1	3	1	5	1	4	2	2	1	2	2	2	6	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:199011517T>C	ENST00000428675.1	+	6	3517	c.3119T>C	c.(3118-3120)cTg>cCg	p.L1040P	PLCL1_ENST00000437704.2_Missense_Mutation_p.L942P	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1040					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAAGGAGATCTGTTGAAGAAT	0.478													20	31					0	0	0	0	C	199011517	T	C	199011517	3	2	334	1	0	0	0	0	1	0	0	0	12111	1580	55	5	3141	5	PLCL1	2	199011517	Missense_Mutation	SNP	T	TCGA-CV-A45U-01A-12D-A24D-08	9151090	199011517	44187856	32	61792											
PLEKHM3	389072	broad.mit.edu	37	chr2	208795753	208795753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacggcggccagcggctctgCgtggtggtacagcatggcgt	5	7	17	12	5	1	0	0	0	1	0	1	0	1	0	1	6	4	3	1	6	1	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:208795753C>T	ENST00000457206.1	-	5	2210	c.1783G>A	c.(1783-1785)Gca>Aca	p.A595T	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A595T|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.A595T			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	595					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCGGCTCTGCGTGGTGGTAC	0.627													39	95					0	0	0	0	T	208795753	C	T	208795753	3	4	334	1	0	0	0	0	1	0	0	0	12154	768	27	1	518	1	PLEKHM3	2	208795753	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	9784236	208795753	34403620	33	61793											
PSMD1	5707	broad.mit.edu	37	chr2	232026148	232026148	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtatttacccagttttggttCtggtttcctctttcacactt	5	20	6	10	0	3	0	1	0	2	0	4	0	4	0	2	2	1	4	2	2	2	9			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:232026148C>G	ENST00000308696.6	+	20	2475	c.2313C>G	c.(2311-2313)ttC>ttG	p.F771L	PSMD1_ENST00000409643.1_Missense_Mutation_p.F771L|PSMD1_ENST00000373635.4_Missense_Mutation_p.F771L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	771					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|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)	AGTTTTGGTTCTGGTTTCCTC	0.463													9	144					0	0	0	0	G	232026148	C	G	232026148	3	3	334	1	0	0	0	0	1	0	0	0	12771	912	32	2	2391	2	PSMD1	2	232026148	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	23230395	232026148	11173225	34	61794											
AGAP1	116987	broad.mit.edu	37	chr2	236877175	236877175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagccccaagctcgaccCgcccccctcccctcacgcca	7	3	5	26	3	1	0	1	0	0	0	3	1	2	0	10	0	2	1	10	0	1	0	rs35347272		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:236877175C>T	ENST00000409538.1	+	12	2685	c.2189C>T	c.(2188-2190)cCg>cTg	p.P730L	AGAP1_ENST00000428334.2_Missense_Mutation_p.P357L|AGAP1_ENST00000336665.5_Missense_Mutation_p.P465L|AGAP1_ENST00000304032.7_Missense_Mutation_p.P518L			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	518					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAGCTCGACCCGCCCCCCTCC	0.577													12	34					0	0	0	0	T	236877175	C	T	236877175	3	4	334	1	0	0	0	0	1	0	0	0	366	652	23	1	1603	1	AGAP1	2	236877175	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	4851027	236877175	6322198	35	61795											
KCNH8	131096	broad.mit.edu	37	chr3	19554770	19554770	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagagaagaacttgaaattGcaactttcaactttgaataa	19	11	6	5	0	1	4	1	2	0	2	1	5	1	4	0	0	4	1	0	0	8	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:19554770G>A	ENST00000328405.2	+	13	2654	c.2388G>A	c.(2386-2388)ttG>ttA	p.L796L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	796						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ACTTGAAATTGCAACTTTCAA	0.428													37	35					0	0	0	0	A	19554770	G	A	19554770	2	1	334	1	0	0	0	0	0	0	0	1	8091	1310	46	4		4	KCNH8	3	19554770	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08		19554770	178467660	36	61796											
LRRC3B	116135	broad.mit.edu	37	chr3	26751183	26751183	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaatctggtagacctgtGgttaacccgttccctctcca	8	12	8	13	1	2	2	0	1	2	1	4	2	3	2	4	2	1	3	4	2	3	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:26751183G>A	ENST00000396641.2	+	2	612	c.20G>A	c.(19-21)tGg>tAg	p.W7*	LRRC3B_ENST00000456208.2_Nonsense_Mutation_p.W7*|LRRC3B_ENST00000417744.1_Nonsense_Mutation_p.W7*	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	7						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GTAGACCTGTGGTTAACCCGT	0.473													14	60					0	0	0	0	A	26751183	G	A	26751183	4	1	334	1	0	0	0	0	0	1	0	0	9060	1357	47	4	22	4	LRRC3B	3	26751183	Nonsense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	7196413	26751183	171271247	37	61797											
DZIP3	9666	broad.mit.edu	37	chr3	108396445	108396445	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacccagtcctgagatactGgtaagaaatacaacattttg	14	10	7	10	0	0	2	0	1	0	2	1	3	1	2	3	1	3	1	3	1	5	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:108396445G>A	ENST00000361582.3	+	26	3113	c.2883_splice	c.e26+1	p.L961_splice	DZIP3_ENST00000463306.1_Splice_Site_p.L961_splice	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	961					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CTGAGATACTGGTAAGAAATA	0.398													14	161					0	0	0	0	A	108396445	G	A	108396445	5	1	334	1	0	0	0	0	0	0	1	0	4901	1362	47	4	2981	4	DZIP3	3	108396445	Splice_Site	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	81645262	108396445	89625985	38	61798											
FBXO40	51725	broad.mit.edu	37	chr3	121341500	121341500	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgctttggaaagagaactCaaaggccacgtcatctctga	12	10	10	9	1	3	2	2	1	1	1	4	4	3	3	1	2	2	1	1	2	3	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:121341500C>G	ENST00000338040.4	+	3	1638	c.1224C>G	c.(1222-1224)ctC>ctG	p.L408L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	408					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAAGAGAACTCAAAGGCCACG	0.468													8	157					0	0	0	0	G	121341500	C	G	121341500	2	3	334	1	0	0	0	0	0	0	0	1	5794	813	29	2		2	FBXO40	3	121341500	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	12945055	121341500	76680930	39	61799											
TOPBP1	11073	broad.mit.edu	37	chr3	133374295	133374295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaataggacacttgaaaTcttccatgtttatatcagta	16	13	6	6	0	2	1	1	1	1	0	3	3	3	2	1	1	0	2	1	1	7	7			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:133374295T>C	ENST00000260810.5	-	6	712	c.581A>G	c.(580-582)gAt>gGt	p.D194G	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	194					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACACTTGAAATCTTCCATGTT	0.328								Other conserved DNA damage response genes					3	30					0	0	0	0	C	133374295	T	C	133374295	3	2	334	1	0	0	0	0	1	0	0	0	16464	1435	50	5	4079	5	TOPBP1	3	133374295	Missense_Mutation	SNP	T	TCGA-CV-A45U-01A-12D-A24D-08	12032795	133374295	64648135	40	61800											
OTOL1	131149	broad.mit.edu	37	chr3	161214885	161214885	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcttgacccagctgattTctttttgaattgttgtgatt	7	19	7	8	0	2	4	0	4	2	0	2	4	2	4	1	0	1	2	1	0	1	7			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:161214885T>A	ENST00000327928.4	+	1	290	c.290T>A	c.(289-291)tTc>tAc	p.F97Y		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	97						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CCAGCTGATTTCTTTTTGAAT	0.448													49	83					0	0	0	0	A	161214885	T	A	161214885	3	1	334	1	0	0	0	0	1	0	0	0	11375	1783	62	5	292	5	OTOL1	3	161214885	Missense_Mutation	SNP	T	TCGA-CV-A45U-01A-12D-A24D-08	27840590	161214885	36807545	41	61801											
ECT2	1894	broad.mit.edu	37	chr3	172474892	172474892	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattctgtctttaatgacctCtacaaggctgattgtagagt	10	15	9	7	0	3	3	0	2	3	1	3	4	3	3	1	1	1	2	1	1	4	6			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:172474892C>G	ENST00000417960.1	+	5	804	c.327C>G	c.(325-327)ctC>ctG	p.L109L	ECT2_ENST00000441497.2_Silent_p.L110L|ECT2_ENST00000540509.1_Silent_p.L141L|ECT2_ENST00000392692.3_Silent_p.L141L|ECT2_ENST00000427830.1_Silent_p.L110L|ECT2_ENST00000232458.5_Silent_p.L110L	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	110					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTAATGACCTCTACAAGGCTG	0.343													10	167					0	0	0	0	G	172474892	C	G	172474892	2	3	334	1	0	0	0	0	0	0	0	1	4937	900	32	2		2	ECT2	3	172474892	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	11260007	172474892	25547538	42	61802											
SOX2	6657	broad.mit.edu	37	chr3	181430499	181430499	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggccccggcggaaaaccaaGacgctcatgaagaaggataa	15	3	12	11	4	1	3	1	1	0	2	1	5	1	5	3	4	1	1	3	4	6	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:181430499G>A	ENST00000325404.1	+	1	778	c.351G>A	c.(349-351)aaG>aaA	p.K117K	SOX2_ENST00000431565.2_Silent_p.K117K	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	117					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GGAAAACCAAGACGCTCATGA	0.662			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						8	70					0	0	0	0	A	181430499	G	A	181430499	2	1	334	1	0	0	0	0	0	0	0	1	15037	933	33	2		2	SOX2	3	181430499	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	8955607	181430499	16591931	43	61803											
KLHL24	54800	broad.mit.edu	37	chr3	183381386	183381386	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttccagaatttaccaaatCagagtatgcagtctgtgctc	11	12	8	10	0	2	2	1	0	1	2	4	2	3	2	2	0	3	4	2	0	4	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:183381386C>G	ENST00000454652.1	+	5	1447	c.1061C>G	c.(1060-1062)tCa>tGa	p.S354*	KLHL24_ENST00000242810.6_Nonsense_Mutation_p.S354*|KLHL24_ENST00000476808.1_Nonsense_Mutation_p.S354*			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	354						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TTTACCAAATCAGAGTATGCA	0.373													7	145					0	0	0	0	G	183381386	C	G	183381386	4	3	334	1	0	0	0	0	0	1	0	0	8431	838	29	2	1067	2	KLHL24	3	183381386	Nonsense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	1950887	183381386	14641044	44	61804											
EIF4G1	1981	broad.mit.edu	37	chr3	184046528	184046529	+	Frame_Shift_Ins	INS	-	-	T																															gcaggaaggtggggtgcccaINStgggggagctgttcaggtaa																								rs144059151	byFrequency	TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:184046528_184046529insT	ENST00000342981.4	+	26	4480_4481	c.4066_4067insT	c.(4066-4068)gggfs	p.G1356fs	EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.G1269fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.G1362fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.G1268fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.G1191fs|EIF4G1_ENST00000346169.2_Frame_Shift_Ins_p.G1355fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.G1315fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.G1316fs|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.G1355fs|EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.G1362fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.G1192fs|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.G1159fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.G1160fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.G1362fs	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1355	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGGGTGCCCATGGGGGAGCTG	0.545													26	234	---	---	---	---					T	184046529	-	T	184046528	7	5	334	1	0	1	1	0	0	0	0	0	5074	217	8	0	4161	0	EIF4G1	3	184046528	Frame_Shift_Ins	INS	-	TCGA-CV-A45U-01A-12D-A24D-08	665142	184046528	13975902	45	61805											
VPS8	23355	broad.mit.edu	37	chr3	184714213	184714213	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagaggactgaatcccAaacaagattactgctctata	15	9	6	11	0	2	3	1	1	1	2	3	4	3	4	2	1	3	1	2	1	6	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:184714213A>G	ENST00000287546.4	+	43	3931	c.3760A>G	c.(3760-3762)Aaa>Gaa	p.K1254E	VPS8_ENST00000446204.2_Missense_Mutation_p.K1162E|VPS8_ENST00000436792.2_Missense_Mutation_p.K1252E|VPS8_ENST00000437079.3_Missense_Mutation_p.K1254E	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1254							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ACTGAATCCCAAACAAGATTA	0.423													8	154					0	0	0	0	G	184714213	A	G	184714213	3	3	334	1	0	0	0	0	1	0	0	0	17314	131	5	5	3926	5	VPS8	3	184714213	Missense_Mutation	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	667685	184714213	13308217	46	61806											
TP63	8626	broad.mit.edu	37	chr3	189526213	189526213	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccaccttcgatgctctCtctccatcacccgccatccc	6	10	4	21	2	3	0	1	0	2	0	8	1	5	0	6	0	2	2	6	0	0	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:189526213C>A	ENST00000264731.3	+	4	566	c.477C>A	c.(475-477)ctC>ctA	p.L159L	TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Silent_p.L65L|TP63_ENST00000392463.2_Silent_p.L65L|TP63_ENST00000392460.3_Silent_p.L159L|TP63_ENST00000437221.1_Silent_p.L65L|TP63_ENST00000392461.3_Silent_p.L65L|TP63_ENST00000320472.5_Silent_p.L159L|TP63_ENST00000440651.2_Silent_p.L159L|TP63_ENST00000449992.1_Intron|TP63_ENST00000354600.5_Silent_p.L65L|TP63_ENST00000418709.2_Silent_p.L159L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	159					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCGATGCTCTCTCTCCATCAC	0.642										HNSCC(45;0.13)			110	45					1.11181e-28	1.29639e-28	1	0	A	189526213	C	A	189526213	2	1	334	1	0	0	0	0	0	0	0	1	16487	900	32	2		2	TP63	3	189526213	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	4812000	189526213	8496217	47	61807											
ATP13A5	344905	broad.mit.edu	37	chr3	193068949	193068949	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaccttgagacagccacaaAgttagggtgaaggcttggaa	14	8	12	7	0	0	2	0	2	0	1	0	4	0	3	2	3	2	2	2	3	5	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:193068949A>T	ENST00000342358.4	-	7	765	c.648T>A	c.(646-648)acT>acA	p.T216T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	216					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)		ACAGCCACAAAGTTAGGGTGA	0.408													10	88					0	0	0	0	T	193068949	A	T	193068949	2	4	334	1	0	0	0	0	0	0	0	1	1131	59	3	5		5	ATP13A5	3	193068949	Silent	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	3542736	193068949	4953481	48	61808											
OPA1	4976	broad.mit.edu	37	chr3	193333484	193333484	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttgatcagtggaaagatAtgataccggaccttagtgaa	13	12	10	6	1	1	4	1	3	0	1	1	6	1	6	2	2	1	0	2	2	5	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:193333484A>G	ENST00000361510.2	+	3	607	c.373A>G	c.(373-375)Atg>Gtg	p.M125V	OPA1_ENST00000361715.2_Missense_Mutation_p.M125V|OPA1_ENST00000392438.3_Missense_Mutation_p.M125V|OPA1_ENST00000361150.2_Missense_Mutation_p.M125V|OPA1_ENST00000361828.2_Missense_Mutation_p.M125V|OPA1_ENST00000361908.3_Missense_Mutation_p.M125V|OPA1_ENST00000487986.1_3'UTR	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	125					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTGGAAAGATATGATACCGGA	0.313													54	75					0	0	0	0	G	193333484	A	G	193333484	3	3	334	1	0	0	0	0	1	0	0	0	10942	449	16	5	383	5	OPA1	3	193333484	Missense_Mutation	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	264535	193333484	4688946	49	61809											
ZNF595	152687	broad.mit.edu	37	chr4	59958	59958	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaataaaacaggttttgtGatctctaacccagacctggt	12	14	7	8	0	1	2	0	1	1	1	2	2	1	2	2	2	2	1	2	2	4	6			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:59958G>A	ENST00000509152.2	+	3	323	c.138G>A	c.(136-138)gtG>gtA	p.V46V	ZNF595_ENST00000526473.2_Silent_p.V46V|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CAGGTTTTGTGATCTCTAACC	0.388													9	92					0	0	0	0	A	59958	G	A	59958	2	1	334	1	0	0	0	0	0	0	0	1	18120	1277	45	2		2	ZNF595	4	59958	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08		59958	191094318	50	61810											
SDAD1	55153	broad.mit.edu	37	chr4	76879075	76879075	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctcctcctcactgagActggtactttcccatccatc	7	12	5	17	0	1	1	1	1	0	1	7	2	6	1	5	1	1	2	5	1	1	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:76879075A>G	ENST00000356260.5	-	18	1621	c.1503T>C	c.(1501-1503)agT>agC	p.S501S	SDAD1_ENST00000395711.4_Silent_p.S464S	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	501					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTCACTGAGACTGGTACTTT	0.403													10	102					0	0	0	0	G	76879075	A	G	76879075	2	3	334	1	0	0	0	0	0	0	0	1	14037	272	10	5		5	SDAD1	4	76879075	Silent	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	76819117	76879075	114275201	51	61811											
DKK2	27123	broad.mit.edu	37	chr4	107956591	107956591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtacatgcccgcagatCgattggcggcctgaccaggc	7	8	13	13	3	0	2	0	1	0	1	1	3	0	2	3	4	2	2	3	4	1	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:107956591C>A	ENST00000285311.3	-	1	863	c.158G>T	c.(157-159)cGa>cTa	p.R53L	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	53					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCCCGCAGATCGATTGGCGGC	0.577													7	64					0.0381472	0.03853	1	0	A	107956591	C	A	107956591	3	1	334	1	0	0	0	0	1	0	0	0	4582	884	31	3	637	3	DKK2	4	107956591	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	31077516	107956591	83197685	52	61812											
FGA	2243	broad.mit.edu	37	chr4	155506937	155506937	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagatgccagattctgaGcccctagactcagtctcact	10	10	9	12	0	3	5	2	2	2	3	4	5	3	5	3	0	2	0	3	0	2	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:155506937G>T	ENST00000302053.3	-	5	1722	c.1644C>A	c.(1642-1644)ggC>ggA	p.G548G	FGA_ENST00000403106.3_Silent_p.G548G	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	548					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CAGATTCTGAGCCCCTAGACT	0.453													35	26					4.3181e-19	4.921e-19	1	0	T	155506937	G	T	155506937	2	4	334	1	0	0	0	0	0	0	0	1	5875	958	34	4		4	FGA	4	155506937	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	47550346	155506937	35647339	53	61813											
AADAT	51166	broad.mit.edu	37	chr4	170999665	170999665	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatgtatactcacactttGaagagttcctgaataagcag	16	11	7	7	0	1	3	1	2	0	1	2	3	2	3	1	0	2	3	1	0	7	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:170999665G>A	ENST00000337664.4	-	4	715	c.439C>T	c.(439-441)Caa>Taa	p.Q147*	AADAT_ENST00000509167.1_Nonsense_Mutation_p.Q151*|AADAT_ENST00000515480.1_Nonsense_Mutation_p.Q147*|AADAT_ENST00000353187.2_Nonsense_Mutation_p.Q147*	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	147					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTCACACTTTGAAGAGTTCCT	0.294													3	25					0	0	0	0	A	170999665	G	A	170999665	4	1	334	1	0	0	0	0	0	1	0	0	14	1299	45	2	878	2	AADAT	4	170999665	Nonsense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	15492728	170999665	20154611	54	61814											
NSUN2	54888	broad.mit.edu	37	chr5	6632788	6632788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaactggccccactcgccctCgggcacgatcttgagctcct	6	8	10	17	3	1	1	0	1	1	0	4	3	2	1	4	2	2	2	4	2	1	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:6632788C>T	ENST00000264670.6	-	2	489	c.178G>A	c.(178-180)Gag>Aag	p.E60K	NSUN2_ENST00000506139.1_Missense_Mutation_p.E60K|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	60						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CACTCGCCCTCGGGCACGATC	0.562													9	123					0	0	0	0	T	6632788	C	T	6632788	3	4	334	1	0	0	0	0	1	0	0	0	10749	893	31	1	2197	1	NSUN2	5	6632788	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08		6632788	174282472	55	61815											
DNAH5	1767	broad.mit.edu	37	chr5	13729585	13729585	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaactgtctgagtttgctaAgttccaccaaattcagccat	13	12	6	10	0	2	1	1	1	1	0	3	1	3	1	3	0	3	3	3	0	4	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:13729585A>C	ENST00000265104.4	-	69	11950	c.11846T>G	c.(11845-11847)cTt>cGt	p.L3949R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3949					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGTTTGCTAAGTTCCACCAA	0.383									Kartagener syndrome				20	50					0	0	0	0	C	13729585	A	C	13729585	3	2	334	1	0	0	0	0	1	0	0	0	4641	72	3	5	2072	5	DNAH5	5	13729585	Missense_Mutation	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	7096797	13729585	167185675	56	61816											
FAM105B	90268	broad.mit.edu	37	chr5	14690362	14690362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggacacatcaaatgacccagGacagcttctgaggaaccacc	14	5	9	13	0	2	2	1	2	1	0	2	5	2	5	3	3	2	1	3	3	2	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:14690362G>A	ENST00000284274.4	+	6	887	c.809G>A	c.(808-810)gGa>gAa	p.G270E		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	270										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AATGACCCAGGACAGCTTCTG	0.433													19	40					0	0	0	0	A	14690362	G	A	14690362	3	1	334	1	0	0	0	0	1	0	0	0	5429	1174	41	2	831	2	FAM105B	5	14690362	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	960777	14690362	166224898	57	61817											
DMGDH	29958	broad.mit.edu	37	chr5	78340264	78340264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacggagcacaggcagttctCgtttcaaagctttcacttca	10	11	8	12	2	4	0	3	0	1	0	5	1	4	1	0	2	2	5	0	2	1	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:78340264C>T	ENST00000255189.3	-	6	885	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.R85Q	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	286					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AGGCAGTTCTCGTTTCAAAGC	0.408													11	51					0	0	0	0	T	78340264	C	T	78340264	3	4	334	1	0	0	0	0	1	0	0	0	4618	884	31	1	1787	1	DMGDH	5	78340264	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	63649902	78340264	102574996	58	61818											
THBS4	7060	broad.mit.edu	37	chr5	79372740	79372740	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcattaacagtgcccagcTggacaccgataaggatggaa	13	7	11	10	2	1	0	1	0	0	0	1	4	1	3	2	3	3	1	2	3	3	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:79372740T>A	ENST00000350881.2	+	16	2145	c.1955T>A	c.(1954-1956)cTg>cAg	p.L652Q	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.L561Q	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	652					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGTGCCCAGCTGGACACCGAT	0.547													51	116					0	0	0	0	A	79372740	T	A	79372740	3	1	334	1	0	0	0	0	1	0	0	0	15950	1580	55	5	2017	5	THBS4	5	79372740	Missense_Mutation	SNP	T	TCGA-CV-A45U-01A-12D-A24D-08	1032476	79372740	101542520	59	61819											
ARSK	153642	broad.mit.edu	37	chr5	94927134	94927134	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttggcccttcatcaattaGatcttcttcagaaaactatt	11	17	4	9	0	5	2	3	0	2	2	5	2	5	2	1	1	1	0	1	1	5	8			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:94927134G>C	ENST00000380009.4	+	6	1106	c.901G>C	c.(901-903)Gat>Cat	p.D301H		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	301						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TCATCAATTAGATCTTCTTCA	0.343													23	54					0	0	0	0	C	94927134	G	C	94927134	3	2	334	1	0	0	0	0	1	0	0	0	1000	942	33	2	923	2	ARSK	5	94927134	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	15554394	94927134	85988126	60	61820											
NME5	8382	broad.mit.edu	37	chr5	137464973	137464973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctggatgtgtctccttcGctactaagctattatttggt	6	18	9	8	1	2	0	0	0	2	0	4	1	2	1	1	2	2	2	1	2	4	6			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:137464973G>A	ENST00000265191.2	-	3	363	c.314C>T	c.(313-315)gCg>gTg	p.A105V	NME5_ENST00000508252.1_5'UTR	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	105					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTCTCCTTCGCTACTAAGCT	0.393													13	53					0	0	0	0	A	137464973	G	A	137464973	3	1	334	1	0	0	0	0	1	0	0	0	10564	1087	38	1	340	1	NME5	5	137464973	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	42537839	137464973	43450287	61	61821											
PCDHB8	56128	broad.mit.edu	37	chr5	140559051	140559051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcgtcagcgccacagacaGagactcgggcaccaacgccc	11	2	11	17	4	1	2	1	0	0	2	2	3	1	2	3	1	3	1	3	1	1	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:140559051G>A	ENST00000239444.2	+	1	1681	c.1436G>A	c.(1435-1437)aGa>aAa	p.R479K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		479	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGACAGAGACTCGGGC	0.652													53	373					0	0	0	0	A	140559051	G	A	140559051	3	1	334	1	0	0	0	0	1	0	0	0	11619	942	33	2	1438	2	PCDHB8	5	140559051	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	3094078	140559051	40356209	62	61822											
PCDHB15	56121	broad.mit.edu	37	chr5	140626044	140626044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctaagcagcctttcaggaGaaattcgactaattaaaaaa	18	9	7	7	1	1	1	1	0	0	1	2	3	1	1	1	1	3	2	1	1	6	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:140626044G>A	ENST00000231173.3	+	1	898	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		300	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E300*(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTTCAGGAGAAATTCGACT	0.398													33	41					0	0	0	0	A	140626044	G	A	140626044	3	1	334	1	0	0	0	0	1	0	0	0	11611	943	33	2	900	2	PCDHB15	5	140626044	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	66993	140626044	40289216	63	61823											
PCDHGC5	56097	broad.mit.edu	37	chr5	140869424	140869424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggatcgtgaagcccaggCaagacatcagctggtgctta	10	8	13	10	1	1	2	1	1	0	1	2	3	1	3	1	3	3	4	1	3	3	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:140869424C>G	ENST00000252087.1	+	1	617	c.617C>G	c.(616-618)gCa>gGa	p.A206G	PCDHGC4_ENST00000306593.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		206	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCCAGGCAAGACATCAG	0.552													34	61					0	0	0	0	G	140869424	C	G	140869424	3	3	334	1	0	0	0	0	1	0	0	0	11642	710	25	4	619	4	PCDHGC5	5	140869424	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	243380	140869424	40045836	64	61824											
LARS	51520	broad.mit.edu	37	chr5	145537113	145537113	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacttcatatcaggacgaacCcaacaatttgtctgcccaaa	14	10	5	12	1	3	0	2	0	1	0	3	2	3	1	2	1	4	0	2	1	6	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:145537113C>A	ENST00000394434.2	-	10	1084	c.918G>T	c.(916-918)tgG>tgT	p.W306C	LARS_ENST00000545646.1_Missense_Mutation_p.W260C|LARS_ENST00000510191.1_Missense_Mutation_p.W252C|LARS_ENST00000274562.9_Missense_Mutation_p.W279C|LARS_ENST00000511505.1_5'UTR	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	306	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAGGACGAACCCAACAATTTG	0.398													8	35					1.12685e-05	1.17754e-05	1	0	A	145537113	C	A	145537113	3	1	334	1	0	0	0	0	1	0	0	0	8687	624	22	4	2704	4	LARS	5	145537113	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	4667689	145537113	35378147	65	61825											
RBM27	54439	broad.mit.edu	37	chr5	145610354	145610354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattcccagcactgttactGtgatcgcacctgctcaccac	8	11	6	16	1	1	1	1	1	0	0	3	1	2	1	3	0	3	4	3	0	2	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:145610354G>T	ENST00000265271.5	+	6	890	c.724G>T	c.(724-726)Gtg>Ttg	p.V242L	RBM27_ENST00000506502.1_Missense_Mutation_p.V242L	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	242					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTGTTACTGTGATCGCACC	0.468													25	51					3.08376e-08	3.31422e-08	1	0	T	145610354	G	T	145610354	3	4	334	1	0	0	0	0	1	0	0	0	13209	1377	48	4	746	4	RBM27	5	145610354	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	73241	145610354	35304906	66	61826											
RANBP17	64901	broad.mit.edu	37	chr5	170345790	170345790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaagacaaattatcagctggGagaattagttatggtgaagg	16	10	12	3	0	1	3	1	1	0	2	1	4	1	3	0	3	1	2	0	3	7	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:170345790G>A	ENST00000523189.1	+	10	1192	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	343					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TATCAGCTGGGAGAATTAGTT	0.313			T	TRD@	ALL								9	26					0	0	0	0	A	170345790	G	A	170345790	3	1	334	1	0	0	0	0	1	0	0	0	13109	1174	41	2	1066	2	RANBP17	5	170345790	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	24735436	170345790	10569470	67	61827											
KIF13A	63971	broad.mit.edu	37	chr6	17837133	17837133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgagagagctgctctctCagtttctcgacttcctcccg	5	12	9	15	2	3	2	1	1	2	1	7	4	5	2	3	0	2	3	3	0	0	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:17837133C>T	ENST00000378814.5	-	11	1130	c.1131G>A	c.(1129-1131)ctG>ctA	p.L377L	KIF13A_ENST00000378843.2_Silent_p.L377L|KIF13A_ENST00000378816.5_Silent_p.L377L|KIF13A_ENST00000378826.2_Silent_p.L377L|KIF13A_ENST00000259711.6_Silent_p.L377L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	377					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTGCTCTCTCAGTTTCTCGA	0.522													22	232					0	0	0	0	T	17837133	C	T	17837133	2	4	334	1	0	0	0	0	0	0	0	1	8325	813	29	2		2	KIF13A	6	17837133	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08		17837133	153277934	68	61828											
BTN3A1	11119	broad.mit.edu	37	chr6	26409843	26409843	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcttcttgggggagcCggttacttcctgtggcaaca	5	12	13	11	1	1	0	0	0	1	0	2	1	2	1	2	4	5	4	2	4	2	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:26409843C>T	ENST00000289361.6	+	5	1166	c.798C>T	c.(796-798)gcC>gcT	p.A266A	BTN3A1_ENST00000414912.2_Silent_p.A214A|BTN3A1_ENST00000476549.2_Silent_p.A266A|BTN3A1_ENST00000425234.2_Silent_p.A266A	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	266					lipid metabolic process	integral to membrane		p.A266A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTGGGGGAGCCGGTTACTTCC	0.552													12	80					0	0	0	0	T	26409843	C	T	26409843	2	4	334	1	0	0	0	0	0	0	0	1	1571	639	23	1		1	BTN3A1	6	26409843	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	8572710	26409843	144705224	69	61829											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114238	27114238	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtgacggccttggtgccctCggacacggcgtgcttggcca	4	8	16	13	4	0	1	0	1	0	0	1	2	0	2	3	6	2	1	3	6	0	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:27114238C>G	ENST00000396891.4	-	1	381	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.E114Q	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	114					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTGGTGCCCTCGGACACGGCG	0.582													22	92					0	0	0	0	G	27114238	C	G	27114238	3	3	334	1	0	0	0	0	1	0	0	0	7200	893	31	3	44	3	HIST1H2BK	6	27114238	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	704395	27114238	144000829	70	61830											
GNL1	2794	broad.mit.edu	37	chr6	30520892	30520892	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatggcttcacaggctctCagcaactgctctggccccag	7	9	11	14	0	3	1	2	1	2	0	4	1	3	1	2	3	3	4	2	3	1	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:30520892C>G	ENST00000376621.3	-	7	1843	c.873G>C	c.(871-873)ctG>ctC	p.L291L		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	291					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGGCTCTCAGCAACTGCT	0.577													48	194					0	0	0	0	G	30520892	C	G	30520892	2	3	334	1	0	0	0	0	0	0	0	1	6586	813	29	2		2	GNL1	6	30520892	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	3406654	30520892	140594175	71	61831											
HLA-B	3106	broad.mit.edu	37	chr6	31324613	31324613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcggctcctctctcggactCgcggcgtcgctgtcgaacct	3	9	12	17	8	1	0	0	0	1	0	7	2	2	1	2	3	1	2	2	3	1	0	rs137854673		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:31324613C>T	ENST00000412585.2	-	2	223	c.195G>A	c.(193-195)gcG>gcA	p.A65A		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTCTCGGACTCGCGGCGTCGC	0.667									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				4	82					0	0	0	0	T	31324613	C	T	31324613	2	4	334	1	0	0	0	0	0	0	0	1	7246	871	31	1		1	HLA-B	6	31324613	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	803721	31324613	139790454	72	61832											
C4B	721	broad.mit.edu	37	chr6	31996955	31996955	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttccaggaagcctccatCtcaaaggcaagctcattttt	10	13	6	12	0	3	0	2	0	2	0	6	1	5	1	3	2	2	2	3	2	3	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:31996955C>T	ENST00000435363.2	+	28	3600	c.3516C>T	c.(3514-3516)atC>atT	p.I1172I	C4B_ENST00000425700.2_Silent_p.I1172I	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1172					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										AAGCCTCCATCTCAAAGGCAA	0.607													20	120					0	0	0	0	T	31996955	C	T	31996955	2	4	334	1	0	0	0	0	0	0	0	1	2269	903	32	2		2	C4B	6	31996955	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	672342	31996955	139118112	73	61833											
ETV7	51513	broad.mit.edu	37	chr6	36353323	36353323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacttacggagtcttcctgGcagcttgcagatcccccctt	6	12	8	15	1	1	1	0	0	1	1	3	2	3	2	4	2	4	3	4	2	2	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:36353323G>A	ENST00000373738.1	-	2	975	c.130C>T	c.(130-132)Cca>Tca	p.P44S	ETV7_ENST00000340181.4_Missense_Mutation_p.P44S|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000339796.5_Missense_Mutation_p.P44S|ETV7_ENST00000373737.4_Missense_Mutation_p.P44S	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	44	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						AGTCTTCCTGGCAGCTTGCAG	0.473													61	83					0	0	0	0	A	36353323	G	A	36353323	3	1	334	1	0	0	0	0	1	0	0	0	5322	1203	42	4	923	4	ETV7	6	36353323	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	4356368	36353323	134761744	74	61834											
PTK7	5754	broad.mit.edu	37	chr6	43111249	43111249	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgggtgccgctgtggcCtacatcattgccgtgctggg	3	11	16	11	3	1	0	1	0	0	0	2	0	1	0	3	4	4	2	3	4	1	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:43111249C>G	ENST00000230419.4	+	14	2363	c.2142C>G	c.(2140-2142)gcC>gcG	p.A714A	PTK7_ENST00000349241.2_Silent_p.A584A|PTK7_ENST00000345201.2_Silent_p.A674A|PTK7_ENST00000352931.2_Silent_p.A658A|PTK7_ENST00000481273.1_Silent_p.A722A	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	714					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCGCTGTGGCCTACATCATTG	0.617											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	78					0	0	0	0	G	43111249	C	G	43111249	2	3	334	1	0	0	0	0	0	0	0	1	12845	668	24	4		4	PTK7	6	43111249	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	6757926	43111249	128003818	75	61835											
TTBK1	84630	broad.mit.edu	37	chr6	43220495	43220495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaaaagatcgggggcGggggctttggtgagatctac	10	8	17	6	2	1	3	0	2	1	2	2	4	1	3	0	5	2	2	0	5	3	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:43220495G>A	ENST00000259750.4	+	3	210	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	TTBK1_ENST00000304139.5_5'UTR	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	43	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GATCGGGGGCGGGGGCTTTGG	0.582													11	59					0	0	0	0	A	43220495	G	A	43220495	3	1	334	1	0	0	0	0	1	0	0	0	16772	1116	39	1	133	1	TTBK1	6	43220495	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	109246	43220495	127894572	76	61836											
DSE	29940	broad.mit.edu	37	chr6	116758059	116758059	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaagtcaaagaaaaacCgaagggcaggcaaacgctat	20	3	10	8	2	1	1	1	0	0	1	1	2	1	1	1	2	3	4	1	2	8	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:116758059C>T	ENST00000331677.3	+	7	2872	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*	DSE_ENST00000359564.2_Nonsense_Mutation_p.R810*|DSE_ENST00000537543.1_Nonsense_Mutation_p.R829*|DSE_ENST00000452085.3_Nonsense_Mutation_p.R810*			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	810					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AAAGAAAAACCGAAGGGCAGG	0.413													16	41					0	0	0	0	T	116758059	C	T	116758059	4	4	334	1	0	0	0	0	0	1	0	0	4810	644	23	1	2446	1	DSE	6	116758059	Nonsense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	73537564	116758059	54357008	77	61837											
SMPDL3A	10924	broad.mit.edu	37	chr6	123118043	123118043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgatcactaatatgacaaCcaccatccagagtctctttc	12	12	5	12	0	2	3	1	2	1	1	5	3	3	3	3	0	1	0	3	0	3	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:123118043C>T	ENST00000368440.4	+	3	578	c.401C>T	c.(400-402)aCc>aTc	p.T134I	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.T3I|SMPDL3A_ENST00000487215.1_3'UTR	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	134					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AATATGACAACCACCATCCAG	0.408													13	22					0	0	0	0	T	123118043	C	T	123118043	3	4	334	1	0	0	0	0	1	0	0	0	14896	507	18	4	411	4	SMPDL3A	6	123118043	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	6359984	123118043	47997024	78	61838											
RPS6KA2	6196	broad.mit.edu	37	chr6	166952261	166952261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatgtctatctccttcacGacgccttcttcctgcaagag	7	13	7	14	2	4	2	1	1	3	1	6	3	5	2	3	0	1	1	3	0	2	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:166952261G>A	ENST00000510118.1	-	4	526	c.186C>T	c.(184-186)gtC>gtT	p.V62V	RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000405189.3_5'UTR|RPS6KA2_ENST00000503859.1_Silent_p.V45V|RPS6KA2_ENST00000481261.2_5'UTR|RPS6KA2_ENST00000265678.4_Silent_p.V37V			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	37	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCTCCTTCACGACGCCTTCTT	0.547													11	67					0	0	0	0	A	166952261	G	A	166952261	2	1	334	1	0	0	0	0	0	0	0	1	13736	1045	37	1		1	RPS6KA2	6	166952261	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	43834218	166952261	4162806	79	61839											
NFE2L3	9603	broad.mit.edu	37	chr7	26224715	26224715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacttagaaggtgctgtagGtggctactacccagaaccca	11	9	11	10	0	0	3	0	1	0	2	0	3	0	3	2	3	4	3	2	3	6	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:26224715G>A	ENST00000056233.3	+	4	1656	c.1397G>A	c.(1396-1398)gGt>gAt	p.G466D		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	466					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GGTGCTGTAGGTGGCTACTAC	0.413													19	135					0	0	0	0	A	26224715	G	A	26224715	3	1	334	1	0	0	0	0	1	0	0	0	10439	1261	44	4	1411	4	NFE2L3	7	26224715	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08		26224715	132913948	80	61840											
EPDR1	54749	broad.mit.edu	37	chr7	37960738	37960738	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgcaacagccgcgcccTgctctcctacgacgggctca	6	5	12	18	6	2	0	1	0	1	0	3	1	2	0	3	2	4	3	3	2	2	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:37960738T>A	ENST00000199448.4	+	1	576	c.197T>A	c.(196-198)cTg>cAg	p.L66Q	EPDR1_ENST00000423717.1_Missense_Mutation_p.L66Q|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000559325.1_Missense_Mutation_p.L186Q	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	66					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGCCGCGCCCTGCTCTCCTAC	0.716													5	41					0	0	0	0	A	37960738	T	A	37960738	3	1	334	1	0	0	0	0	1	0	0	0	5201	1580	55	5	559	5	EPDR1	7	37960738	Missense_Mutation	SNP	T	TCGA-CV-A45U-01A-12D-A24D-08	11736023	37960738	121177925	81	61841											
STK17A	9263	broad.mit.edu	37	chr7	43663374	43663374	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttaggcaatgataaacaAgaaacattcttaaacatctc	17	12	4	8	0	3	2	0	1	3	1	4	2	3	2	0	1	3	1	0	1	8	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:43663374A>G	ENST00000319357.5	+	6	986	c.807A>G	c.(805-807)caA>caG	p.Q269Q		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	269	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATGATAAACAAGAAACATTCT	0.323													22	24					0	0	0	0	G	43663374	A	G	43663374	2	3	334	1	0	0	0	0	0	0	0	1	15380	69	3	5		5	STK17A	7	43663374	Silent	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	5702636	43663374	115475289	82	61842											
PGAM2	5224	broad.mit.edu	37	chr7	44102419	44102419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccttccgcaccgtttcctCatcacccaggaactgcatgg	7	9	9	16	2	2	0	2	0	0	0	4	1	4	1	5	3	2	3	5	3	1	2	rs144070530		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:44102419C>T	ENST00000297283.3	-	3	763	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	236					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						ACCGTTTCCTCATCACCCAGG	0.612													18	46					0	0	0	0	T	44102419	C	T	44102419	3	4	334	1	0	0	0	0	1	0	0	0	11846	835	29	2	59	2	PGAM2	7	44102419	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	439045	44102419	115036244	83	61843											
PGAM2	5224	broad.mit.edu	37	chr7	44102506	44102506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccgtgggcaggttcagctCcatgatcgcctggtctgaca	6	9	12	14	2	2	2	1	2	1	0	4	2	3	2	4	3	1	3	4	3	0	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:44102506C>T	ENST00000297283.3	-	3	676	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	207					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						AGGTTCAGCTCCATGATCGCC	0.552													25	58					0	0	0	0	T	44102506	C	T	44102506	3	4	334	1	0	0	0	0	1	0	0	0	11846	864	30	2	146	2	PGAM2	7	44102506	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	87	44102506	115036157	84	61844											
ADCY1	107	broad.mit.edu	37	chr7	45632418	45632418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggggtctttgtgcggattCtgactgagcgttcacagagg	7	12	15	7	2	3	3	1	2	2	1	3	4	3	4	0	4	2	1	0	4	0	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:45632418C>T	ENST00000297323.7	+	2	722	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	ADCY1_ENST00000432715.1_Silent_p.L9L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	234					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGTGCGGATTCTGACTGAGCG	0.572													55	127					0	0	0	0	T	45632418	C	T	45632418	2	4	334	1	0	0	0	0	0	0	0	1	292	912	32	2		2	ADCY1	7	45632418	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	1529912	45632418	113506245	85	61845											
SEMA3D	223117	broad.mit.edu	37	chr7	84651774	84651774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatccaccactatctgtgtCagtctgtaatccacattgat	10	14	6	11	0	3	2	1	2	2	0	5	2	5	2	3	0	0	1	3	0	2	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:84651774C>T	ENST00000284136.6	-	11	1390	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	449	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTATCTGTGTCAGTCTGTAAT	0.403													19	145					0	0	0	0	T	84651774	C	T	84651774	2	4	334	1	0	0	0	0	0	0	0	1	14114	813	29	2		2	SEMA3D	7	84651774	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	39019356	84651774	74486889	86	61846											
PON3	5446	broad.mit.edu	37	chr7	94989368	94989368	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagccacagaggtgccctGaagcacagagccattgttgg	12	6	13	10	0	0	4	0	1	0	3	0	4	0	4	3	2	4	2	3	2	2	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:94989368G>A	ENST00000265627.5	-	9	992	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	PON3_ENST00000427422.1_3'UTR|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			GAGGTGCCCTGAAGCACAGAG	0.453													10	117					0	0	0	0	A	94989368	G	A	94989368	4	1	334	1	0	0	0	0	0	1	0	0	12322	1299	45	2	86	2	PON3	7	94989368	Nonsense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	10337594	94989368	64149295	87	61847											
TRRAP	8295	broad.mit.edu	37	chr7	98527677	98527677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagccatgtttcacagtgaaGaaaatggctcgaaaggaatg	15	8	11	7	1	1	2	1	1	0	1	2	4	1	3	1	2	1	2	1	2	5	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:98527677G>C	ENST00000359863.4	+	24	3450	c.3241G>C	c.(3241-3243)Gaa>Caa	p.E1081Q	TRRAP_ENST00000355540.3_Missense_Mutation_p.E1081Q|TRRAP_ENST00000446306.3_Missense_Mutation_p.E1080Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1081					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCACAGTGAAGAAAATGGCTC	0.488													24	195					0	0	0	0	C	98527677	G	C	98527677	3	2	334	1	0	0	0	0	1	0	0	0	16696	943	33	2	3331	2	TRRAP	7	98527677	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	3538309	98527677	60610986	88	61848											
RELN	5649	broad.mit.edu	37	chr7	103205840	103205840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttggaggaacacactcttCggtgacaagatgccagtcct	10	9	12	10	1	1	2	0	1	1	1	3	4	2	4	2	4	2	1	2	4	2	2	rs147657490	byFrequency	TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:103205840C>T	ENST00000428762.1	-	34	5254	c.5095G>A	c.(5095-5097)Gaa>Aaa	p.E1699K	RELN_ENST00000343529.5_Missense_Mutation_p.E1699K|RELN_ENST00000424685.2_Missense_Mutation_p.E1699K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1699					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACACACTCTTCGGTGACAAGA	0.478													7	37					0	0	0	0	T	103205840	C	T	103205840	3	4	334	1	0	0	0	0	1	0	0	0	13302	893	31	1	5415	1	RELN	7	103205840	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	4678163	103205840	55932823	89	61849											
KCND2	3751	broad.mit.edu	37	chr7	120373044	120373044	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttggtcattgctctaccTgttccggtgattgtatccaa	6	16	9	10	1	3	1	1	1	2	0	5	1	5	1	3	2	2	3	3	2	3	6			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:120373044T>A	ENST00000331113.4	+	2	2168	c.1203T>A	c.(1201-1203)ccT>ccA	p.P401P		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	401					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTGCTCTACCTGTTCCGGTGA	0.468													13	36					0	0	0	0	A	120373044	T	A	120373044	2	1	334	1	0	0	0	0	0	0	0	1	8072	1567	55	5		5	KCND2	7	120373044	Silent	SNP	T	TCGA-CV-A45U-01A-12D-A24D-08	17167204	120373044	38765619	90	61850											
PTPRZ1	5803	broad.mit.edu	37	chr7	121684554	121684554	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgctggacagtcatattCatgcctatgttaatgcactc	10	13	9	9	0	2	0	2	0	0	0	3	1	2	1	1	2	3	3	1	2	3	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:121684554C>G	ENST00000393386.2	+	23	6427	c.6016C>G	c.(6016-6018)Cat>Gat	p.H2006D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.H1139D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2006					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAGTCATATTCATGCCTATGT	0.433													6	46					0	0	0	0	G	121684554	C	G	121684554	3	3	334	1	0	0	0	0	1	0	0	0	12896	826	29	2	6106	2	PTPRZ1	7	121684554	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	1311510	121684554	37454109	91	61851											
INSIG1	3638	broad.mit.edu	37	chr7	155090046	155090046	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctcctgtgcgcacagcgcGaggcgccgaggccccccgcg	4	4	15	18	7	0	0	0	0	0	0	1	2	1	0	5	2	3	2	5	2	0	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:155090046G>A	ENST00000340368.4	+	2	262	c.51G>A	c.(49-51)gcG>gcA	p.A17A	INSIG1_ENST00000344756.4_Silent_p.A17A|INSIG1_ENST00000342407.5_Silent_p.A17A	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	17					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCACAGCGCGAGGCGCCGAG	0.687													4	11					0	0	0	0	A	155090046	G	A	155090046	2	1	334	1	0	0	0	0	0	0	0	1	7818	1045	37	1		1	INSIG1	7	155090046	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	33405492	155090046	4048617	92	61852											
CSMD1	64478	broad.mit.edu	37	chr8	3245115	3245115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcacagctgaaagtcaCtgtggacctgatgccaaagt	11	8	12	10	1	2	2	2	2	0	0	2	3	2	3	2	2	2	1	2	2	2	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr8:3245115C>T	ENST00000520002.1	-	19	3241	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	CSMD1_ENST00000539096.1_Missense_Mutation_p.V895M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V895M|CSMD1_ENST00000602723.1_Missense_Mutation_p.V896M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V895M|CSMD1_ENST00000602557.1_Missense_Mutation_p.V896M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V896M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	896	Sushi 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGAAAGTCACTGTGGACCTG	0.612													7	10					0	0	0	0	T	3245115	C	T	3245115	3	4	334	1	0	0	0	0	1	0	0	0	3976	565	20	4	8223	4	CSMD1	8	3245115	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08		3245115	143118907	93	61853											
KIF13B	23303	broad.mit.edu	37	chr8	28974434	28974434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggaccgtcacgcgcaCgatcaggaacaaccgctcgt	10	5	12	14	6	2	0	2	0	0	0	3	4	2	2	2	2	3	3	2	2	2	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr8:28974434C>G	ENST00000524189.1	-	31	3789	c.3751G>C	c.(3751-3753)Gtg>Ctg	p.V1251L	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1251					microtubule-based movement|protein targeting|signal transduction|T cell activation	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)		GTCACGCGCACGATCAGGAAC	0.602													6	96					0	0	0	0	G	28974434	C	G	28974434	3	3	334	1	0	0	0	0	1	0	0	0	8326	536	19	3	1769	3	KIF13B	8	28974434	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	25729319	28974434	117389588	94	61854											
ST18	9705	broad.mit.edu	37	chr8	53071579	53071579	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcactacattgaccgtagCtataagagctggcacggcca	11	9	9	12	2	1	2	1	1	0	1	1	2	1	2	2	2	3	4	2	2	4	6			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr8:53071579C>A	ENST00000276480.7	-	15	2368	c.1685G>T	c.(1684-1686)aGc>aTc	p.S562I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	562						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTGACCGTAGCTATAAGAGCT	0.532													35	100					1.61788e-16	1.82996e-16	1	0	A	53071579	C	A	53071579	3	1	334	1	0	0	0	0	1	0	0	0	15302	797	28	4	1506	4	ST18	8	53071579	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	24097145	53071579	93292443	95	61855											
UBR5	51366	broad.mit.edu	37	chr8	103359294	103359294	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagaggatcctccaccacttCcacccactccagaactccag	11	6	5	19	0	0	2	0	0	0	2	5	3	5	3	7	1	1	0	7	1	1	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr8:103359294C>G	ENST00000520539.1	-	6	1019	c.413G>C	c.(412-414)gGa>gCa	p.G138A	UBR5_ENST00000220959.4_Missense_Mutation_p.G138A|UBR5_ENST00000521922.1_Missense_Mutation_p.G138A	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	138					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCACCACTTCCACCCACTCC	0.453													13	156					0	0	0	0	G	103359294	C	G	103359294	3	3	334	1	0	0	0	0	1	0	0	0	17001	855	30	2	8202	2	UBR5	8	103359294	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	50287715	103359294	43004728	96	61856											
DENND3	22898	broad.mit.edu	37	chr8	142199099	142199099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttagaactgcatggtgatGgccgaccagaaccaggtgtg	10	9	14	8	1	0	3	0	1	0	2	0	4	0	3	3	3	3	2	3	3	3	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr8:142199099G>A	ENST00000519811.1	+	19	3169	c.3099G>A	c.(3097-3099)atG>atA	p.M1033I	DENND3_ENST00000424248.1_Missense_Mutation_p.M901I|DENND3_ENST00000262585.2_Missense_Mutation_p.M953I|DENND3_ENST00000523308.1_Missense_Mutation_p.M3I			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	953										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATGGTGATGGCCGACCAGA	0.512													8	51					0	0	0	0	A	142199099	G	A	142199099	3	1	334	1	0	0	0	0	1	0	0	0	4469	1348	47	4	2929	4	DENND3	8	142199099	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	38839805	142199099	4164923	97	61857											
KIAA1432	57589	broad.mit.edu	37	chr9	5765456	5765456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaggcaacatgctacccttCtattcaacacagcactagaa	14	9	6	12	0	2	1	1	0	1	1	2	1	2	1	1	1	5	4	1	1	7	6			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:5765456C>G	ENST00000414202.2	+	20	3075	c.2884C>G	c.(2884-2886)Cta>Gta	p.L962V	KIAA1432_ENST00000418622.3_Missense_Mutation_p.L883V|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L883V|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L962V|KIAA1432_ENST00000449720.2_Missense_Mutation_p.L846V	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	962						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGCTACCCTTCTATTCAACAC	0.418													20	64					0	0	0	0	G	5765456	C	G	5765456	3	3	334	1	0	0	0	0	1	0	0	0	8284	912	32	2	2721	2	KIAA1432	9	5765456	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08		5765456	135447975	98	61858											
SNAPC3	6619	broad.mit.edu	37	chr9	15453088	15453088	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagaggctatggaaagtttCagactgctagaatggaagat	15	10	12	4	0	1	4	1	0	0	4	1	6	1	6	0	3	1	3	0	3	6	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:15453088C>G	ENST00000380821.3	+	7	1041	c.865C>G	c.(865-867)Cag>Gag	p.Q289E	SNAPC3_ENST00000380799.1_Missense_Mutation_p.Q86E	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	289					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		TGGAAAGTTTCAGACTGCTAG	0.383													6	83					0	0	0	0	G	15453088	C	G	15453088	3	3	334	1	0	0	0	0	1	0	0	0	14924	827	29	2	891	2	SNAPC3	9	15453088	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	9687632	15453088	125760343	99	61859											
PLIN2	123	broad.mit.edu	37	chr9	19126394	19126394	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggctactcaaaattcataCcggttgtggatcaactgcaa	14	10	8	9	1	3	0	3	0	0	0	3	1	3	1	1	3	4	3	1	3	7	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:19126394C>G	ENST00000276914.2	-	2	210		c.e2+1		PLIN2_ENST00000411567.1_Splice_Site|PLIN2_ENST00000380465.3_Splice_Site|PLIN2_ENST00000380464.3_Splice_Site	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2						cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AAAATTCATACCGGTTGTGGA	0.418													30	42					0	0	0	0	G	19126394	C	G	19126394	5	3	334	1	0	0	0	0	0	0	1	0	12162	521	18	4	1310	4	PLIN2	9	19126394	Splice_Site	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	3673306	19126394	122087037	100	61860											
APBA1	320	broad.mit.edu	37	chr9	72086606	72086606	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatgaagccaagcttttTcttgactgtaataaagacaa	15	11	9	6	0	1	3	0	2	1	1	1	4	1	4	1	1	2	2	1	1	7	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:72086606T>C	ENST00000265381.4	-	4	1524	c.1302A>G	c.(1300-1302)agA>agG	p.R434R		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	434	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CCAAGCTTTTTCTTGACTGTA	0.333													10	18					0	0	0	0	C	72086606	T	C	72086606	2	2	334	1	0	0	0	0	0	0	0	1	757	1780	62	5		5	APBA1	9	72086606	Silent	SNP	T	TCGA-CV-A45U-01A-12D-A24D-08	52960212	72086606	69126825	101	61861											
PRUNE2	158471	broad.mit.edu	37	chr9	79318747	79318747	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctggctgacatgtgtctggGaagcttgctaactgagttcc	7	12	13	9	0	1	2	0	2	1	0	2	3	2	3	1	2	3	5	1	2	2	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:79318747G>A	ENST00000428286.1	-	9	7905	c.6705C>T	c.(6703-6705)ttC>ttT	p.F2235F	PRUNE2_ENST00000376718.3_Silent_p.F2594F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2594					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGTGTCTGGGAAGCTTGCTA	0.433													5	54					0	0	0	0	A	79318747	G	A	79318747	2	1	334	1	0	0	0	0	0	0	0	1	12720	1165	41	2		2	PRUNE2	9	79318747	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	7232141	79318747	61894684	102	61862											
OR1L1	26737	broad.mit.edu	37	chr9	125424594	125424594	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaaagaaatcacagtaatGacagaaggcttggctgtcat	15	9	10	7	0	3	3	3	1	0	2	3	3	3	3	0	2	0	3	0	2	4	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:125424594G>C	ENST00000373686.1	+	1	750	c.750G>C	c.(748-750)atG>atC	p.M250I				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCACAGTAATGACAGAAGGCT	0.408													43	118					0	0	0	0	C	125424594	G	C	125424594	3	2	334	1	0	0	0	0	1	0	0	0	11034	1290	45	2	602	2	OR1L1	9	125424594	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	46105847	125424594	15788837	103	61863											
LRSAM1	90678	broad.mit.edu	37	chr9	130241761	130241761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagcagcagccagaaggatGagatccttcagacggtcaag	14	5	13	9	1	2	4	2	1	0	4	3	6	3	5	2	2	3	2	2	2	2	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:130241761G>A	ENST00000323301.4	+	12	1484	c.880G>A	c.(880-882)Gag>Aag	p.E294K	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E294K|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E294K|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E294K	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	294					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CCAGAAGGATGAGATCCTTCA	0.617													9	28					0	0	0	0	A	130241761	G	A	130241761	3	1	334	1	0	0	0	0	1	0	0	0	9107	1291	45	2	922	2	LRSAM1	9	130241761	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	4817167	130241761	10971670	104	61864											
EXOSC2	23404	broad.mit.edu	37	chr9	133569283	133569283	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggatacaatcactacGgacacaggattcatgcggta	12	7	12	10	3	2	0	2	0	0	0	2	3	2	3	1	5	3	1	1	5	4	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:133569283G>A	ENST00000372358.5	+	1	176	c.105G>A	c.(103-105)acG>acA	p.T35T	EXOSC2_ENST00000372351.3_Silent_p.T35T|EXOSC2_ENST00000372352.3_Silent_p.T35T|EXOSC2_ENST00000546165.1_Silent_p.T35T			Q13868	EXOS2_HUMAN	exosome component 2	35					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		CAATCACTACGGACACAGGAT	0.592													37	33					0	0	0	0	A	133569283	G	A	133569283	2	1	334	1	0	0	0	0	0	0	0	1	5352	1103	39	1		1	EXOSC2	9	133569283	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	3327522	133569283	7644148	105	61865											
CUBN	8029	broad.mit.edu	37	chr10	17168789	17168789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttggaattttctctcaaGatccaccagctggcaatagg	10	11	9	11	0	2	1	1	0	1	1	4	2	3	2	3	3	1	2	3	3	4	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:17168789G>T	ENST00000377833.4	-	4	423	c.358C>A	c.(358-360)Ctt>Att	p.L120I	CUBN_ENST00000377823.1_Missense_Mutation_p.L120I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	120					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.L120V(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTCTCTCAAGATCCACCAGC	0.408													7	32					0.00198382	0.00203089	1	0	T	17168789	G	T	17168789	3	4	334	1	0	0	0	0	1	0	0	0	4083	942	33	2	10769	2	CUBN	10	17168789	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08		17168789	118365958	106	61866											
SYT15	83849	broad.mit.edu	37	chr10	46962018	46962018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcgcttcaccagctcCttgggcttgctgagcatctc	5	11	10	15	1	2	1	1	1	1	0	4	1	3	1	3	1	5	5	3	1	0	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:46962018C>G	ENST00000374323.3	-	7	1964	c.1377G>C	c.(1375-1377)aaG>aaC	p.K459N	SYT15_ENST00000374325.3_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Intron|SYT15_ENST00000374321.4_Missense_Mutation_p.K406N			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	406						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TCACCAGCTCCTTGGGCTTGC	0.667													30	96					0	0	0	0	G	46962018	C	G	46962018	3	3	334	1	0	0	0	0	1	0	0	0	15562	680	24	4	105	4	SYT15	10	46962018	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	29793229	46962018	88572729	107	61867			1	93		2	2	13	N	G_C	8.992814e-05
SYT15	83849	broad.mit.edu	37	chr10	46962030	46962030	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagctccttgggcttgctGagcatctcgtcccagtgctc	5	11	10	15	1	1	1	0	1	1	0	5	1	3	1	3	1	4	5	3	1	0	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:46962030G>A	ENST00000374323.3	-	7	1952	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	SYT15_ENST00000374325.3_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Intron|SYT15_ENST00000374321.4_Silent_p.L402L			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	402						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGGGCTTGCTGAGCATCTCGT	0.682													17	98					0	0	0	0	A	46962030	G	A	46962030	2	1	334	1	0	0	0	0	0	0	0	1	15562	1277	45	2		2	SYT15	10	46962030	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	12	46962030	88572717	108	61868			1	93		2	2	13	N	G_C	8.992814e-05
KIF20B	9585	broad.mit.edu	37	chr10	91483766	91483766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaaaaaaactgataaatGaaaaaaaggaaaaattaacc	27	6	5	3	0	0	3	0	3	0	0	0	4	0	4	1	1	2	0	1	1	12	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:91483766G>A	ENST00000416354.1	+	14	1840	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	KIF20B_ENST00000371728.3_Missense_Mutation_p.E590K|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.E590K|KIF20B_ENST00000260753.4_Missense_Mutation_p.E590K			Q96Q89	KI20B_HUMAN	kinesin family member 20B	590					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACTGATAAATGAAAAAAAGGA	0.284													6	53					0	0	0	0	A	91483766	G	A	91483766	3	1	334	1	0	0	0	0	1	0	0	0	8338	1291	45	2	1818	2	KIF20B	10	91483766	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	44521736	91483766	44050981	109	61869											
KIF20B	9585	broad.mit.edu	37	chr10	91518595	91518595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaatgtacagaaagataatGaaattgaacaactaaaaagg	22	8	8	3	0	0	4	0	2	0	2	0	4	0	4	0	1	3	2	0	1	10	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:91518595G>A	ENST00000416354.1	+	27	4798	c.4726G>A	c.(4726-4728)Gaa>Aaa	p.E1576K	KIF20B_ENST00000371728.3_Missense_Mutation_p.E1546K|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.E1546K|KIF20B_ENST00000260753.4_Missense_Mutation_p.E1506K			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1546	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAAAGATAATGAAATTGAACA	0.323													7	7					0	0	0	0	A	91518595	G	A	91518595	3	1	334	1	0	0	0	0	1	0	0	0	8338	1291	45	2	4618	2	KIF20B	10	91518595	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	34829	91518595	44016152	110	61870											
KIF20B	9585	broad.mit.edu	37	chr10	91528090	91528090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagaatgctacacccagaaCtaatttgaaatttcctattt	15	13	5	8	0	0	3	0	1	0	2	1	4	1	3	2	0	3	1	2	0	7	6			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:91528090C>G	ENST00000416354.1	+	30	5195	c.5123C>G	c.(5122-5124)aCt>aGt	p.T1708S	KIF20B_ENST00000371728.3_Missense_Mutation_p.T1678S|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.T1638S			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1678	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACACCCAGAACTAATTTGAAA	0.289													8	27					0	0	0	0	G	91528090	C	G	91528090	3	3	334	1	0	0	0	0	1	0	0	0	8338	565	20	4	5027	4	KIF20B	10	91528090	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	9495	91528090	44006657	111	61871											
GOLGA7B	401647	broad.mit.edu	37	chr10	99619295	99619295	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagactacagcgatgggacCatctgtcagttccagaccaa	13	7	10	11	1	2	2	1	0	1	2	3	5	3	3	3	1	2	1	3	1	2	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:99619295C>T	ENST00000370602.1	+	2	158	c.93C>T	c.(91-93)acC>acT	p.T31T		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	31						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						GCGATGGGACCATCTGTCAGT	0.577													13	55					0	0	0	0	T	99619295	C	T	99619295	2	4	334	1	0	0	0	0	0	0	0	1	6611	581	21	4		4	GOLGA7B	10	99619295	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	8091205	99619295	35915452	112	61872											
TECTB	6975	broad.mit.edu	37	chr10	114063023	114063023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccttctggtccacagatGttctccaccacctcatcatg	7	12	5	17	0	4	1	2	0	2	1	7	1	6	1	6	1	0	1	6	1	0	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:114063023G>A	ENST00000369422.3	+	10	943	c.943G>A	c.(943-945)Gtt>Att	p.V315I		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	315						anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GTCCACAGATGTTCTCCACCA	0.498													58	43					0	0	0	0	A	114063023	G	A	114063023	3	1	334	1	0	0	0	0	1	0	0	0	15842	1377	48	4	981	4	TECTB	10	114063023	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	14443728	114063023	21471724	113	61873											
IRF7	3665	broad.mit.edu	37	chr11	613570	613570	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggcccttgtacatgatggtCacgtccagcgcccctgggct	5	9	12	15	3	1	1	1	1	0	0	2	1	2	1	4	3	2	2	4	3	1	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:613570C>G	ENST00000397566.1	-	7	1321	c.912G>C	c.(910-912)gtG>gtC	p.V304V	IRF7_ENST00000330243.5_Silent_p.V304V|IRF7_ENST00000397574.2_Silent_p.V291V|IRF7_ENST00000397570.1_Silent_p.V262V|IRF7_ENST00000525445.1_Silent_p.V185V|IRF7_ENST00000348655.6_Silent_p.V262V|IRF7_ENST00000397562.3_5'UTR	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	291					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACATGATGGTCACGTCCAGCG	0.682													5	27					0	0	0	0	G	613570	C	G	613570	2	3	334	1	0	0	0	0	0	0	0	1	7888	813	29	2		2	IRF7	11	613570	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08		613570	134392946	114	61874											
MUC5B	727897	broad.mit.edu	37	chr11	1272899	1272899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagtcctcaccaccctgaGacccactggcttccccagct	7	8	6	20	0	2	1	2	1	0	1	4	2	4	1	6	1	1	2	6	1	0	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:1272899G>A	ENST00000447027.1	+	31	14856	c.14798G>A	c.(14797-14799)aGa>aAa	p.R4933K	MUC5B_ENST00000529681.1_Missense_Mutation_p.R4930K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4930					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACCCTGAGACCCACTGGC	0.612													8	37					0	0	0	0	A	1272899	G	A	1272899	3	1	334	1	0	0	0	0	1	0	0	0	10049	942	33	2	14920	2	MUC5B	11	1272899	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	659329	1272899	133733617	115	61875											
ART1	417	broad.mit.edu	37	chr11	3681097	3681097	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcgatgagcatggggtGgccctcctggcctacacagc	6	8	13	14	2	0	1	0	1	0	0	2	2	2	1	4	4	3	1	4	4	1	2	rs139321904	byFrequency	TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:3681097G>A	ENST00000250693.1	+	3	449	c.348G>A	c.(346-348)gtG>gtA	p.V116V		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	116					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGCATGGGGTGGCCCTCCTGG	0.682													8	34					0	0	0	0	A	3681097	G	A	3681097	2	1	334	1	0	0	0	0	0	0	0	1	1001	1335	47	4		4	ART1	11	3681097	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	2408198	3681097	131325419	116	61876											
NLRP14	338323	broad.mit.edu	37	chr11	7065134	7065134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctgccttaagcactgccGgtgtttgcggaccatcaggc	6	12	11	12	2	2	0	1	0	1	0	2	1	2	1	3	3	4	2	3	3	1	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:7065134G>T	ENST00000299481.4	+	4	2223	c.1877G>T	c.(1876-1878)cGg>cTg	p.R626L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	626					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGCACTGCCGGTGTTTGCGG	0.413													32	40					7.68411e-24	8.8912e-24	1	0	T	7065134	G	T	7065134	3	4	334	1	0	0	0	0	1	0	0	0	10546	1116	39	3	1887	3	NLRP14	11	7065134	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	3384037	7065134	127941382	117	61877											
RNF141	50862	broad.mit.edu	37	chr11	10546740	10546740	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacttatgcattatataccTtcccatccaaagactagcct	13	13	3	12	0	0	1	0	0	0	1	2	1	2	1	4	0	4	1	4	0	7	7			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:10546740T>A	ENST00000265981.2	-	4	575	c.434_splice	c.e4+1	p.R145_splice	RNF141_ENST00000528665.1_Splice_Site_p.R145_splice	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	145							zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		ATTATATACCTTCCCATCCAA	0.353													8	59					0	0	0	0	A	10546740	T	A	10546740	5	1	334	1	0	0	0	0	0	0	1	0	13529	1623	56	5	271	5	RNF141	11	10546740	Splice_Site	SNP	T	TCGA-CV-A45U-01A-12D-A24D-08	3481606	10546740	124459776	118	61878											
PDE3B	5140	broad.mit.edu	37	chr11	14853294	14853294	+	Nonsense_Mutation	SNP	G	G	T																															ttgaacttgtagaaaagatgGgagagaaatcaggaaggatt																										TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:14853294G>T	ENST00000282096.4	+	9	2418	c.2065G>T	c.(2065-2067)Gga>Tga	p.G689*	PDE3B_ENST00000455098.2_Nonsense_Mutation_p.G638*	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	689					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGAAAAGATGGGAGAGAAATC	0.299													15	17					1.02788e-11	1.1288e-11	1	0	T	14853294	G	T	14853294	4	4	334	1	0	0	0	0	0	1	0	0	11709	1233	43	4	2099	4	PDE3B	11	14853294	Nonsense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	4306554	14853294	120153222	119	61879	738	2									
PDE3B	5140	broad.mit.edu	37	chr11	14853295	14853295	+	Missense_Mutation	SNP	G	G	T																															tgaacttgtagaaaagatggGagagaaatcaggaaggattc																										TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:14853295G>T	ENST00000282096.4	+	9	2419	c.2066G>T	c.(2065-2067)gGa>gTa	p.G689V	PDE3B_ENST00000455098.2_Missense_Mutation_p.G638V	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	689					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAAAAGATGGGAGAGAAATCA	0.294													15	17					1.5739e-10	1.70977e-10	1	0	T	14853295	G	T	14853295	3	4	334	1	0	0	0	0	1	0	0	0	11709	1174	41	2	2100	2	PDE3B	11	14853295	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	1	14853295	120153221	120	61880	738	2									
TTC17	55761	broad.mit.edu	37	chr11	43419532	43419532	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtctcttcagatgcttggGgaatataaccactcagtgct	9	14	9	9	0	3	1	2	0	1	1	4	2	3	2	1	2	3	2	1	2	3	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:43419532G>T	ENST00000039989.4	+	8	941	c.927G>T	c.(925-927)ggG>ggT	p.G309G	TTC17_ENST00000299240.6_Silent_p.G309G|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	309							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGATGCTTGGGGAATATAACC	0.448													5	77					5.9392e-07	6.31563e-07	1	0	T	43419532	G	T	43419532	2	4	334	1	0	0	0	0	0	0	0	1	16780	1219	43	4		4	TTC17	11	43419532	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	28566237	43419532	91586984	121	61881											
SYT13	57586	broad.mit.edu	37	chr11	45265715	45265715	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcccaggctgcagtggccaAgcgcacagctctgccctgaa	8	5	13	15	1	1	1	0	1	1	0	1	1	1	1	3	3	4	4	3	3	2	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:45265715A>T	ENST00000020926.3	-	6	1280	c.1169T>A	c.(1168-1170)cTt>cAt	p.L390H		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	390	C2 2.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCAGTGGCCAAGCGCACAGCT	0.622													11	42					0	0	0	0	T	45265715	A	T	45265715	3	4	334	1	0	0	0	0	1	0	0	0	15560	72	3	5	115	5	SYT13	11	45265715	Missense_Mutation	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	1846183	45265715	89740801	122	61882											
EEF1G	1937	broad.mit.edu	37	chr11	62327592	62327592	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagactccagaaatggagctGctattgttggttccaaaaag	13	10	10	8	0	0	2	0	0	0	2	2	3	2	3	2	2	2	4	2	2	4	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:62327592G>A	ENST00000378019.3	-	9	1344	c.1254C>T	c.(1252-1254)agC>agT	p.S418S	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Silent_p.S368S			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	368	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAATGGAGCTGCTATTGTTGG	0.537													32	43					0	0	0	0	A	62327592	G	A	62327592	2	1	334	1	0	0	0	0	0	0	0	1	4964	1310	46	4		4	EEF1G	11	62327592	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	17061877	62327592	72678924	123	61883											
PACS1	55690	broad.mit.edu	37	chr11	65838061	65838061	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagcagccgccgccgcAgcagcagcagcagcagccgc	8	1	12	20	4	1	0	1	0	0	0	1	0	1	0	5	0	8	7	5	0	0	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:65838061A>C	ENST00000320580.4	+	1	137	c.104A>C	c.(103-105)cAg>cCg	p.Q35P		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	35	Gly-rich.|Poly-Gln.				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ccgccgccgcagcagcagcag	0.796													3	8					0	0	0	0	C	65838061	A	C	65838061	3	2	334	1	0	0	0	0	1	0	0	0	11443	188	7	5	106	5	PACS1	11	65838061	Missense_Mutation	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	3510469	65838061	69168455	124	61884											
SPTBN2	6712	broad.mit.edu	37	chr11	66468476	66468476	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgttgatggccactgcctGagcgggatggccggcagcca	6	6	17	12	3	0	2	0	2	0	0	0	3	0	3	4	5	3	2	4	5	0	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:66468476G>A	ENST00000533211.1	-	17	3425	c.3094C>T	c.(3094-3096)Cag>Tag	p.Q1032*	SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.Q1032*|SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.Q1032*			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1032					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCACTGCCTGAGCGGGATGG	0.716													9	86					0	0	0	0	A	66468476	G	A	66468476	4	1	334	1	0	0	0	0	0	1	0	0	15210	1299	45	2	4166	2	SPTBN2	11	66468476	Nonsense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	630415	66468476	68538040	125	61885											
PC	5091	broad.mit.edu	37	chr11	66617885	66617885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaggccgcgtacagtccccGagccccctcccagtactcac	8	5	9	19	3	1	0	1	0	0	0	3	2	3	0	6	1	3	2	6	1	3	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:66617885G>A	ENST00000393960.1	-	19	2805	c.2524C>T	c.(2524-2526)Cgg>Tgg	p.R842W	PC_ENST00000393955.2_Missense_Mutation_p.R842W|PC_ENST00000393958.2_Missense_Mutation_p.R842W	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	842					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TACAGTCCCCGAGCCCCCTCC	0.587													4	86					0	0	0	0	A	66617885	G	A	66617885	3	1	334	1	0	0	0	0	1	0	0	0	11568	1057	37	1	1032	1	PC	11	66617885	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	149409	66617885	68388631	126	61886											
RPS6KB2	6199	broad.mit.edu	37	chr11	67196593	67196593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccttgtgtccgtaggcCtgtgggacactatgaagagg	9	10	13	9	1	0	2	0	1	0	1	2	3	2	3	3	3	1	1	3	3	4	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:67196593C>T	ENST00000312629.5	+	3	167	c.122C>T	c.(121-123)cCt>cTt	p.P41L	RPS6KB2_ENST00000539188.1_Missense_Mutation_p.P41L|RPS6KB2_ENST00000524814.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	41					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTCCGTAGGCCTGTGGGACAC	0.612													18	146					0	0	0	0	T	67196593	C	T	67196593	3	4	334	1	0	0	0	0	1	0	0	0	13742	681	24	4	132	4	RPS6KB2	11	67196593	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	578708	67196593	67809923	127	61887											
CPT1A	1374	broad.mit.edu	37	chr11	68579925	68579925	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtttccagagtccgattGatttttgcaattattcctaa	9	16	7	9	2	0	2	0	1	0	1	3	3	3	2	4	0	1	2	4	0	3	7			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:68579925G>T	ENST00000265641.5	-	3	415	c.261C>A	c.(259-261)atC>atA	p.I87I	CPT1A_ENST00000376618.2_Silent_p.I87I|CPT1A_ENST00000540367.1_Silent_p.I87I|CPT1A_ENST00000539743.1_Silent_p.I87I	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	87					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GAGTCCGATTGATTTTTGCAA	0.458													72	51					4.8811e-34	5.73577e-34	1	0	T	68579925	G	T	68579925	2	4	334	1	0	0	0	0	0	0	0	1	3861	1280	45	2		2	CPT1A	11	68579925	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	1383332	68579925	66426591	128	61888											
CTTN	2017	broad.mit.edu	37	chr11	70265886	70265886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcggcggcaaatacggtatCgacaaggacaaagtggataa	15	7	12	7	4	0	0	0	0	0	0	2	3	0	2	0	5	1	2	0	5	6	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:70265886C>T	ENST00000346329.3	+	9	911	c.603C>T	c.(601-603)atC>atT	p.I201I	CTTN_ENST00000376561.3_Silent_p.I201I|CTTN_ENST00000301843.8_Silent_p.I201I	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	201						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AATACGGTATCGACAAGGACA	0.418													9	271					0	0	0	0	T	70265886	C	T	70265886	2	4	334	1	0	0	0	0	0	0	0	1	4076	874	31	1		1	CTTN	11	70265886	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	1685961	70265886	64740630	129	61889											
PDE2A	5138	broad.mit.edu	37	chr11	72290389	72290389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggccaggtctgtggccaaGatgatgtcccgcatcagatc	8	9	13	11	1	2	3	1	1	1	2	4	3	3	3	3	3	0	1	3	3	1	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:72290389G>A	ENST00000334456.5	-	27	2540	c.2295C>T	c.(2293-2295)atC>atT	p.I765I	PDE2A_ENST00000540345.1_Silent_p.I756I|PDE2A_ENST00000444035.2_Silent_p.I756I|PDE2A_ENST00000418754.2_Silent_p.I650I|PDE2A_ENST00000376450.3_Silent_p.I509I|PDE2A_ENST00000544570.1_Silent_p.I758I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	765	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CTGTGGCCAAGATGATGTCCC	0.612													6	121					0	0	0	0	A	72290389	G	A	72290389	2	1	334	1	0	0	0	0	0	0	0	1	11707	932	33	2		2	PDE2A	11	72290389	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	2024503	72290389	62716127	130	61890											
XRRA1	143570	broad.mit.edu	37	chr11	74617424	74617424	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctccattccagtctactGactcgtcatagagctgaact	9	12	7	13	1	2	3	1	2	1	1	5	3	4	3	3	0	4	1	3	0	3	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:74617424G>T	ENST00000340360.6	-	10	1170	c.839C>A	c.(838-840)tCa>tAa	p.S280*	XRRA1_ENST00000321448.8_Nonsense_Mutation_p.S47*|XRRA1_ENST00000527087.1_Nonsense_Mutation_p.S280*|RP11-147I3.1_ENST00000533875.1_RNA	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	280					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CCAGTCTACTGACTCGTCATA	0.453													15	27					7.93312e-07	8.34774e-07	1	0	T	74617424	G	T	74617424	4	4	334	1	0	0	0	0	0	1	0	0	17557	1294	45	2	1579	2	XRRA1	11	74617424	Nonsense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	2327035	74617424	60389092	131	61891											
NAALAD2	10003	broad.mit.edu	37	chr11	89880576	89880576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatccaaacccagtggaaGaaatttggactagattcagc	17	8	8	8	0	1	2	1	0	0	2	2	4	2	4	2	2	2	0	2	2	6	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:89880576G>T	ENST00000534061.1	+	3	503	c.273G>T	c.(271-273)aaG>aaT	p.K91N	NAALAD2_ENST00000375944.3_Missense_Mutation_p.K91N|NAALAD2_ENST00000321955.4_Missense_Mutation_p.K91N|NAALAD2_ENST00000525171.1_Missense_Mutation_p.K91N	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	91					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCAGTGGAAGAAATTTGGAC	0.358													20	30					4.96729e-08	5.31958e-08	1	0	T	89880576	G	T	89880576	3	4	334	1	0	0	0	0	1	0	0	0	10198	933	33	2	283	2	NAALAD2	11	89880576	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	15263152	89880576	45125940	132	61892											
CCDC82	79780	broad.mit.edu	37	chr11	96106622	96106622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatgagtatagtggtcaCtaaaagaatctgaaattaat	19	11	7	4	0	2	3	1	2	1	1	2	3	2	3	0	1	0	1	0	1	9	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:96106622C>A	ENST00000278520.5	-	5	1429	c.1001G>T	c.(1000-1002)aGt>aTt	p.S334I	CCDC82_ENST00000542662.1_Missense_Mutation_p.S334I|CCDC82_ENST00000423339.2_Missense_Mutation_p.S334I			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	334							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATAGTGGTCACTAAAAGAATC	0.299													4	29					0.00909568	0.00924881	1	0	A	96106622	C	A	96106622	3	1	334	1	0	0	0	0	1	0	0	0	2883	565	20	4	653	4	CCDC82	11	96106622	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	6226046	96106622	38899894	133	61893											
APOA4	337	broad.mit.edu	37	chr11	116692567	116692567	+	Silent	SNP	C	C	T																															aggtcacctgcgtaagtgttCacttctccaagtttgtcctg																										TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:116692567C>T	ENST00000357780.3	-	3	321	c.207G>A	c.(205-207)gtG>gtA	p.V69V		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		cgtAAGTGTTCACTTCTCCAA	0.532													37	90					0	0	0	0	T	116692567	C	T	116692567	2	4	334	1	0	0	0	0	0	0	0	1	785	813	29	2		2	APOA4	11	116692567	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	20585945	116692567	18313949	134	61894	739	2									
APOA4	337	broad.mit.edu	37	chr11	116692572	116692572	+	Missense_Mutation	SNP	C	C	T																															acctgcgtaagtgttcacttCtccaagtttgtcctggaaga																										TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:116692572C>T	ENST00000357780.3	-	3	316	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GTGTTCACTTCTCCAAGTTTG	0.537													38	94					0	0	0	0	T	116692572	C	T	116692572	3	4	334	1	0	0	0	0	1	0	0	0	785	922	32	2	992	2	APOA4	11	116692572	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	5	116692572	18313944	135	61895	739	2									
UBE4A	9354	broad.mit.edu	37	chr11	118253482	118253482	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggtttttgtggacatcGaatttacaggtaaagcagtc	12	13	10	6	1	1	0	1	0	0	0	3	2	1	1	0	3	2	3	0	3	5	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:118253482G>T	ENST00000252108.3	+	13	2319	c.2188G>T	c.(2188-2190)Gaa>Taa	p.E730*	UBE4A_ENST00000545354.1_Nonsense_Mutation_p.E202*|UBE4A_ENST00000431736.2_Nonsense_Mutation_p.E737*	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	730					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGTGGACATCGAATTTACAGG	0.443													9	57					0.000442599	0.000454643	1	0	T	118253482	G	T	118253482	4	4	334	1	0	0	0	0	0	1	0	0	16978	1059	37	3	2255	3	UBE4A	11	118253482	Nonsense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	1560910	118253482	16753034	136	61896											
HSPA8	3312	broad.mit.edu	37	chr11	122930906	122930906	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagaccagcaatagttccaGcatctttggtagcctgacgc	10	10	10	11	1	1	2	0	2	1	1	2	3	2	2	3	1	3	4	3	1	3	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:122930906G>T	ENST00000534319.1	-	0	188				HSPA8_ENST00000453788.2_Missense_Mutation_p.A161D|HSPA8_ENST00000534624.1_Missense_Mutation_p.A161D|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000526110.1_Missense_Mutation_p.A142D|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.A161D|HSPA8_ENST00000227378.3_Missense_Mutation_p.A161D			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8						cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AATAGTTCCAGCATCTTTGGT	0.418													9	50					7.48243e-07	7.92875e-07	1	0	T	122930906	G	T	122930906	1	4	334	1	0	0	0	0	0	0	0	0	7468	971	34	4		4	HSPA8	11	122930906	Translation_Start_Site	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	4677424	122930906	12075610	137	61897											
PRDM10	56980	broad.mit.edu	37	chr11	129785675	129785675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggaccagcgggtcggagCttccgaatgctcggtgggag	7	6	17	11	4	0	0	0	0	0	0	3	4	1	3	3	5	3	2	3	5	1	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:129785675C>A	ENST00000358825.5	-	17	2649	c.2418G>T	c.(2416-2418)aaG>aaT	p.K806N	PRDM10_ENST00000528746.1_Missense_Mutation_p.K776N|PRDM10_ENST00000423662.2_Missense_Mutation_p.K720N|PRDM10_ENST00000526082.1_Missense_Mutation_p.K720N|PRDM10_ENST00000304538.6_Missense_Mutation_p.K716N|PRDM10_ENST00000360871.3_Missense_Mutation_p.K802N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	806					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGGGTCGGAGCTTCCGAATGC	0.602													39	76					2.40579e-17	2.73139e-17	1	0	A	129785675	C	A	129785675	3	1	334	1	0	0	0	0	1	0	0	0	12531	796	28	4	1088	4	PRDM10	11	129785675	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	6854769	129785675	5220841	138	61898											
CACNA2D4	93589	broad.mit.edu	37	chr12	2017122	2017122	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctgaagtgagcattggactCcaggaggaactcggcgccca	10	6	14	11	2	0	2	0	2	0	0	2	5	1	5	2	4	2	2	2	4	2	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:2017122C>G	ENST00000382722.5	-	5	930	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E190Q|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E190Q|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E126Q|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E126Q|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E190Q	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	190						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCATTGGACTCCAGGAGGAAC	0.592													12	50					0	0	0	0	G	2017122	C	G	2017122	3	3	334	1	0	0	0	0	1	0	0	0	2576	864	30	2	2981	2	CACNA2D4	12	2017122	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08		2017122	131834773	139	61899											
PRMT8	56341	broad.mit.edu	37	chr12	3659138	3659138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcggactctcacttacCggaactccatgtaccacaac	11	8	8	14	2	1	0	1	0	1	0	3	2	2	2	3	3	5	1	3	3	4	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:3659138C>T	ENST00000382622.3	+	3	688	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	PRMT8_ENST00000452611.2_Missense_Mutation_p.R91W|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	100					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TCTCACTTACCGGAACTCCAT	0.507													18	176					0	0	0	0	T	3659138	C	T	3659138	3	4	334	1	0	0	0	0	1	0	0	0	12622	643	23	1	308	1	PRMT8	12	3659138	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	1642016	3659138	130192757	140	61900											
CHD4	1108	broad.mit.edu	37	chr12	6707098	6707098	+	Frame_Shift_Del	DEL	T	T	-																															tggatcatcatccactcgggTtttatcccatagcgatagaa																										TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:6707098delT	ENST00000309577.6	-	12	2017	c.1854delA	c.(1852-1854)aafs	p.K618fs	CHD4_ENST00000544040.1_Frame_Shift_Del_p.K611fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K615fs|CHD4_ENST00000357008.2_Frame_Shift_Del_p.K618fs			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	618					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCCACTCGGGTTTTATCCCAT	0.517													28	165	---	---	---	---					-	6707098	T	-	6707098	7	5	334	1	0	1	0	1	0	0	0	0	3356	1722	60	0	4000	0	CHD4	12	6707098	Frame_Shift_Del	DEL	T	TCGA-CV-A45U-01A-12D-A24D-08	3047960	6707098	127144797	141	61901											
CD163L1	283316	broad.mit.edu	37	chr12	7528319	7528319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagacaactccaacttctCtgctgtggatacaagtgtct	12	11	7	11	0	2	1	0	0	2	1	4	2	3	2	1	1	5	1	1	1	5	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:7528319C>G	ENST00000313599.3	-	10	2720	c.2663G>C	c.(2662-2664)aGa>aCa	p.R888T	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Missense_Mutation_p.R888T|CD163L1_ENST00000416109.2_Missense_Mutation_p.R898T			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	888	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCAACTTCTCTGCTGTGGAT	0.463													8	90					0	0	0	0	G	7528319	C	G	7528319	3	3	334	1	0	0	0	0	1	0	0	0	2997	913	32	2	1738	2	CD163L1	12	7528319	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	821221	7528319	126323576	142	61902											
TAS2R14	50840	broad.mit.edu	37	chr12	11091155	11091155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgctggcgtctccggataTtttgacagtgtgctgcatct	5	14	13	9	2	2	1	0	1	2	0	3	2	2	2	1	3	3	3	1	3	1	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:11091155T>C	ENST00000537503.1	-	1	707	c.652A>G	c.(652-654)Ata>Gta	p.I218V	TAS2R14_ENST00000381852.4_5'UTR|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	218					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TCTCCGGATATTTTGACAGTG	0.423													14	38					0	0	0	0	C	11091155	T	C	11091155	3	2	334	1	0	0	0	0	1	0	0	0	15659	1493	52	5	304	5	TAS2R14	12	11091155	Missense_Mutation	SNP	T	TCGA-CV-A45U-01A-12D-A24D-08	3562836	11091155	122760740	143	61903											
SLC38A1	81539	broad.mit.edu	37	chr12	46594952	46594952	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcgaaaaaggagatgtttGaaaccatctgcatttttttc	12	14	9	6	1	1	2	0	1	1	1	2	4	1	2	1	2	2	2	1	2	3	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:46594952G>C	ENST00000398637.5	-	13	1626	c.932C>G	c.(931-933)tCa>tGa	p.S311*	SLC38A1_ENST00000549049.1_Nonsense_Mutation_p.S311*|SLC38A1_ENST00000546893.1_Nonsense_Mutation_p.S311*|SLC38A1_ENST00000439706.1_Nonsense_Mutation_p.S311*|SLC38A1_ENST00000552197.1_Nonsense_Mutation_p.S311*|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	311					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GGAGATGTTTGAAACCATCTG	0.303													5	18					0	0	0	0	C	46594952	G	C	46594952	4	2	334	1	0	0	0	0	0	1	0	0	14689	1294	45	2	551	2	SLC38A1	12	46594952	Nonsense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	35503797	46594952	87256943	144	61904											
KRT6B	3854	broad.mit.edu	37	chr12	52845708	52845708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggctgccaaagccagctcctCcacatgcgccacccaggcca	9	4	9	19	1	0	0	0	0	0	0	2	0	2	0	7	2	4	2	7	2	1	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:52845708C>T	ENST00000252252.3	-	1	202	c.155G>A	c.(154-156)gGa>gAa	p.G52E		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	52	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCCAGCTCCTCCACATGCGCC	0.662													34	81					0	0	0	0	T	52845708	C	T	52845708	3	4	334	1	0	0	0	0	1	0	0	0	8533	855	30	2	1575	2	KRT6B	12	52845708	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	6250756	52845708	81006187	145	61905											
PPP1R12A	4659	broad.mit.edu	37	chr12	80203692	80203692	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatttcagcaagtgcaccAtagctgcccgtctttctaag	9	12	9	11	1	3	1	1	1	2	0	3	1	3	1	2	0	4	3	2	0	3	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:80203692A>G	ENST00000450142.2	-	10	1604	c.1338T>C	c.(1336-1338)taT>taC	p.Y446Y	PPP1R12A_ENST00000546369.1_Silent_p.Y359Y|PPP1R12A_ENST00000261207.5_Silent_p.Y446Y|PPP1R12A_ENST00000437004.2_Silent_p.Y446Y|PPP1R12A_ENST00000550107.1_Silent_p.Y446Y	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	446						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CAAGTGCACCATAGCTGCCCG	0.438													17	9					0	0	0	0	G	80203692	A	G	80203692	2	3	334	1	0	0	0	0	0	0	0	1	12430	224	8	5		5	PPP1R12A	12	80203692	Silent	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	27357984	80203692	53648203	146	61906											
SSH1	54434	broad.mit.edu	37	chr12	109186365	109186365	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctccggatcctccaggtgGaccaagctgccagtttcatc	7	10	9	15	1	2	0	1	0	1	0	6	2	4	2	5	3	2	2	5	3	1	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:109186365G>T	ENST00000326495.5	-	14	1683	c.1590C>A	c.(1588-1590)gtC>gtA	p.V530V	SSH1_ENST00000360239.3_Silent_p.V218V|SSH1_ENST00000551165.1_Silent_p.V530V|SSH1_ENST00000326470.5_Silent_p.V541V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	530					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTCCAGGTGGACCAAGCTGC	0.657													31	67					1.39806e-14	1.56956e-14	1	0	T	109186365	G	T	109186365	2	4	334	1	0	0	0	0	0	0	0	1	15274	1161	41	2		2	SSH1	12	109186365	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	28982673	109186365	24665530	147	61907											
RNFT2	84900	broad.mit.edu	37	chr12	117188112	117188112	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctttcagcataagctcGgtgagttctgggggcatggg	6	12	16	7	1	2	1	1	1	1	0	3	1	2	1	0	4	3	5	0	4	1	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:117188112G>A	ENST00000257575.4	+	4	783	c.550_splice	c.e4+1	p.G184_splice	RNFT2_ENST00000319176.7_Splice_Site_p.G184_splice|RNFT2_ENST00000407967.3_Splice_Site_p.G184_splice|RNFT2_ENST00000392549.2_Splice_Site_p.G184_splice			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	184						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GCATAAGCTCGGTGAGTTCTG	0.632													8	10					0	0	0	0	A	117188112	G	A	117188112	5	1	334	1	0	0	0	0	0	0	1	0	13587	1130	39	1	560	1	RNFT2	12	117188112	Splice_Site	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	8001747	117188112	16663783	148	61908											
WSB2	55884	broad.mit.edu	37	chr12	118480989	118480989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgttgagtcccgtagcaaGaaccaggcaagagacatcgg	13	6	12	10	3	0	3	0	1	0	2	3	4	1	3	2	2	2	4	2	2	4	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:118480989G>A	ENST00000315436.3	-	3	517	c.376C>T	c.(376-378)Ctt>Ttt	p.L126F	WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Missense_Mutation_p.L128F|WSB2_ENST00000441406.2_Missense_Mutation_p.L143F	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	126					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCGTAGCAAGAACCAGGCAA	0.617													23	101					0	0	0	0	A	118480989	G	A	118480989	3	1	334	1	0	0	0	0	1	0	0	0	17501	942	33	2	866	2	WSB2	12	118480989	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	1292877	118480989	15370906	149	61909											
FRY	10129	broad.mit.edu	37	chr13	32691487	32691487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggtcatcagctcaatgaGctccctttctgagtactgcc	9	12	8	12	0	4	2	3	2	1	0	5	2	5	2	2	1	4	3	2	1	3	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr13:32691487G>T	ENST00000380250.3	+	4	837	c.341G>T	c.(340-342)aGc>aTc	p.S114I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCTCAATGAGCTCCCTTTCT	0.413													15	11					6.31663e-08	6.74071e-08	1	0	T	32691487	G	T	32691487	3	4	334	1	0	0	0	0	1	0	0	0	6111	971	34	4	355	4	FRY	13	32691487	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08		32691487	82478391	150	61910											
PABPN1	8106	broad.mit.edu	37	chr14	23792593	23792593	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctctcatcaggtggactAtggtgcaacagcagaagagc	11	8	11	11	0	2	2	2	0	1	2	4	3	3	3	1	3	4	2	1	3	3	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:23792593A>G	ENST00000397276.2	+	4	555	c.542A>G	c.(541-543)tAt>tGt	p.Y181C	PABPN1_ENST00000557702.1_Missense_Mutation_p.Y53C|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.Y208C|PABPN1_ENST00000216727.4_Missense_Mutation_p.Y181C|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.Y208C|PABPN1_ENST00000556821.1_Missense_Mutation_p.Y53C					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGGTGGACTATGGTGCAACA	0.493													12	34					0	0	0	0	G	23792593	A	G	23792593	3	3	334	1	0	0	0	0	1	0	0	0	11439	449	16	5	556	5	PABPN1	14	23792593	Missense_Mutation	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08		23792593	83556947	151	61911											
FOXG1	2290	broad.mit.edu	37	chr14	29237007	29237007	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggcaaggagggcgagaaGaagaacggcaagtacgagaa	16	1	19	5	3	0	4	0	0	0	4	0	7	0	5	0	5	2	3	0	5	7	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:29237007G>A	ENST00000382535.3	+	2	891	c.522G>A	c.(520-522)aaG>aaA	p.K174K	FOXG1_ENST00000313071.4_Silent_p.K174K			P55316	FOXG1_HUMAN	forkhead box G1	174	Gly-rich.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		agggcgagaagaagAACGGCA	0.682													5	25					0	0	0	0	A	29237007	G	A	29237007	2	1	334	1	0	0	0	0	0	0	0	1	6054	933	33	2		2	FOXG1	14	29237007	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	5444414	29237007	78112533	152	61912											
DLST	1743	broad.mit.edu	37	chr14	75361060	75361060	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcattgctcagcgtctgaagGaggcccagaatacatgtgca	11	8	12	10	1	2	2	1	1	1	1	2	3	2	3	1	2	4	3	1	2	3	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:75361060G>T	ENST00000334220.4	+	10	779	c.718G>T	c.(718-720)Gag>Tag	p.E240*	DLST_ENST00000334212.6_Nonsense_Mutation_p.E154*|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	240					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GCGTCTGAAGGAGGCCCAGAA	0.458													22	105					5.26018e-13	5.81895e-13	1	0	T	75361060	G	T	75361060	4	4	334	1	0	0	0	0	0	1	0	0	4606	1175	41	2	756	2	DLST	14	75361060	Nonsense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	46124053	75361060	31988480	153	61913											
DDX24	57062	broad.mit.edu	37	chr14	94546080	94546080	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgattttgtgtccttCaacttcatggttgctgaaaa	8	16	9	8	0	2	2	2	2	0	0	3	2	3	2	2	2	2	2	2	2	3	6			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:94546080C>A	ENST00000330836.5	-	2	140	c.9G>T	c.(7-9)ttG>ttT	p.L3F	DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	3					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTGTGTCCTTCAACTTCATGG	0.413													102	103					5.19218e-38	6.12515e-38	1	0	A	94546080	C	A	94546080	3	1	334	1	0	0	0	0	1	0	0	0	4383	825	29	2	2602	2	DDX24	14	94546080	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	19185020	94546080	12803460	154	61914											
DICER1	23405	broad.mit.edu	37	chr14	95582918	95582918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaacataggatcgatattCtgtgggcaaatcaaaacgaa	16	10	9	6	2	2	1	1	1	1	0	3	4	2	2	0	2	2	1	0	2	7	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:95582918C>T	ENST00000526495.1	-	12	1915	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	DICER1_ENST00000343455.3_Missense_Mutation_p.E542K|DICER1_ENST00000393063.1_Missense_Mutation_p.E542K|DICER1_ENST00000541352.1_Missense_Mutation_p.E542K|DICER1_ENST00000527414.1_Missense_Mutation_p.E542K			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	542	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GATCGATATTCTGTGGGCAAA	0.378			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				13	133					0	0	0	0	T	95582918	C	T	95582918	3	4	334	1	0	0	0	0	1	0	0	0	4558	922	32	2	4216	2	DICER1	14	95582918	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	1036838	95582918	11766622	155	61915											
C14orf177	283598	broad.mit.edu	37	chr14	99182679	99182680	+	Frame_Shift_Del	DEL	AG	AG	-																															ctcagcacctgcagagcctaAgacataacaagcagcatgcc																										TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:99182679_99182680delAG	ENST00000325812.2	+	3	570_571	c.151_152delAG	c.(151-153)afs	p.R51fs		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	51										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GCAGAGCCTAAGACATAACAAG	0.49													10	33	---	---	---	---					-	99182680	AG	-	99182679	7	5	334	1	0	1	0	1	0	0	0	0	1772	64	3	0	153	0	C14orf177	14	99182679	Frame_Shift_Del	DEL	AG	TCGA-CV-A45U-01A-12D-A24D-08	3599761	99182679	8166861	156	61916											
CDC42BPB	9578	broad.mit.edu	37	chr14	103414104	103414104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtagcatgaatgacatctGaggccaggactgagctcacg	11	8	13	9	1	2	4	1	4	1	0	2	5	2	5	1	2	2	3	1	2	2	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:103414104G>A	ENST00000361246.2	-	27	3773	c.3485C>T	c.(3484-3486)tCa>tTa	p.S1162L		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1162	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AATGACATCTGAGGCCAGGAC	0.463													23	106					0	0	0	0	A	103414104	G	A	103414104	3	1	334	1	0	0	0	0	1	0	0	0	3102	1294	45	2	1694	2	CDC42BPB	14	103414104	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	4231425	103414104	3935436	157	61917											
BUB1B	701	broad.mit.edu	37	chr15	40462759	40462759	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatatcagctggacagagcaGaactatcctcaaggtgggaa	14	8	11	8	0	2	2	2	0	0	2	3	4	3	4	1	3	3	2	1	3	6	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:40462759G>A	ENST00000287598.6	+	4	456	c.261G>A	c.(259-261)caG>caA	p.Q87Q	BUB1B_ENST00000412359.3_Silent_p.Q101Q|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	87	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GGACAGAGCAGAACTATCCTC	0.378			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				3	33					0	0	0	0	A	40462759	G	A	40462759	2	1	334	1	0	0	0	0	0	0	0	1	1580	933	33	2		2	BUB1B	15	40462759	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08		40462759	62068633	158	61918											
CAPN3	825	broad.mit.edu	37	chr15	42678429	42678429	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaccttcttttccgagtCataccccatgatcaaagttt	10	13	5	13	1	3	1	2	1	1	0	4	2	4	1	4	0	2	2	4	0	2	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:42678429C>T	ENST00000397163.3	+	3	663	c.444C>T	c.(442-444)gtC>gtT	p.V148V	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Silent_p.V148V|CAPN3_ENST00000357568.3_Silent_p.V148V|CAPN3_ENST00000318023.7_Silent_p.V148V|CAPN3_ENST00000356316.3_Silent_p.V61V	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	148	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TTTTCCGAGTCATACCCCATG	0.552											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	72					0	0	0	0	T	42678429	C	T	42678429	2	4	334	1	0	0	0	0	0	0	0	1	2653	813	29	2		2	CAPN3	15	42678429	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	2215670	42678429	59852963	159	61919											
MYO5A	4644	broad.mit.edu	37	chr15	52611296	52611296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggagcacatgtccttcCgcaggagaaggttgttcagg	9	9	13	10	1	1	1	1	0	0	1	4	3	4	2	3	4	1	4	3	4	1	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:52611296C>T	ENST00000399231.3	-	38	5363	c.5120G>A	c.(5119-5121)cGg>cAg	p.R1707Q	MYO5A_ENST00000553916.1_Missense_Mutation_p.R1705Q|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1732Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1680Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1704Q	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1707	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CATGTCCTTCCGCAGGAGAAG	0.537													6	74					0	0	0	0	T	52611296	C	T	52611296	3	4	334	1	0	0	0	0	1	0	0	0	10148	652	23	1	463	1	MYO5A	15	52611296	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	9932867	52611296	49920096	160	61920											
MAN2C1	4123	broad.mit.edu	37	chr15	75648327	75648327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcttcaggcggttgtcccGaagggtcaagtggccagcag	8	7	16	10	2	2	0	2	0	0	0	3	2	3	0	2	4	2	3	2	4	2	2	rs139418901		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:75648327G>A	ENST00000565683.1	-	26	3105	c.3094C>T	c.(3094-3096)Cgg>Tgg	p.R1032W	MAN2C1_ENST00000569482.1_Missense_Mutation_p.R992W|MAN2C1_ENST00000267978.5_Missense_Mutation_p.R1015W|MAN2C1_ENST00000563622.1_Missense_Mutation_p.R916W	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	1015					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CGGTTGTCCCGAAGGGTCAAG	0.627													7	29					0	0	0	0	A	75648327	G	A	75648327	3	1	334	1	0	0	0	0	1	0	0	0	9287	1057	37	1	83	1	MAN2C1	15	75648327	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	23037031	75648327	26883065	161	61921											
ANPEP	290	broad.mit.edu	37	chr15	90348580	90348580	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatgttggacagggctgtCaggtccttggggtggataag	8	10	17	6	0	1	0	1	0	0	0	2	2	2	2	1	6	1	3	1	6	1	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:90348580C>T	ENST00000300060.6	-	3	1042	c.729G>A	c.(727-729)ctG>ctA	p.L243L		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	243	Metalloprotease.		L -> P.		angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	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)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	ACAGGGCTGTCAGGTCCTTGG	0.642													8	65					0	0	0	0	T	90348580	C	T	90348580	2	4	334	1	0	0	0	0	0	0	0	1	709	813	29	2		2	ANPEP	15	90348580	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	14700253	90348580	12182812	162	61922											
ZNF774	342132	broad.mit.edu	37	chr15	90903702	90903702	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccaatgcaaggggtgtgaGaagaaattcagcgacagctc	14	7	12	8	1	1	2	1	1	0	2	2	4	1	2	1	2	4	2	1	2	5	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:90903702G>A	ENST00000354377.3	+	4	825	c.639G>A	c.(637-639)gaG>gaA	p.E213E	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGGGGTGTGAGAAGAAATTCA	0.517													19	34					0	0	0	0	A	90903702	G	A	90903702	2	1	334	1	0	0	0	0	0	0	0	1	18240	933	33	2		2	ZNF774	15	90903702	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	555122	90903702	11627690	163	61923											
IQGAP1	8826	broad.mit.edu	37	chr15	90984875	90984875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacttaccaggatatacttTaccaggctaagcaggacaaa	15	8	7	11	0	0	0	0	0	0	0	0	2	0	2	3	3	4	2	3	3	6	6			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:90984875T>C	ENST00000268182.5	+	8	911	c.787T>C	c.(787-789)Tac>Cac	p.Y263H	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	263					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGATATACTTTACCAGGCTAA	0.373													3	37					0	0	0	0	C	90984875	T	C	90984875	3	2	334	1	0	0	0	0	1	0	0	0	7867	1754	61	5	817	5	IQGAP1	15	90984875	Missense_Mutation	SNP	T	TCGA-CV-A45U-01A-12D-A24D-08	81173	90984875	11546517	164	61924											
MCTP2	55784	broad.mit.edu	37	chr15	94884146	94884146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtaaaacagggtgatttcaAgagacacgtaagtgggacct	14	8	13	6	1	1	2	1	1	0	1	1	4	1	3	1	3	1	2	1	3	4	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:94884146A>G	ENST00000357742.4	+	6	962	c.962A>G	c.(961-963)aAg>aGg	p.K321R	MCTP2_ENST00000543482.1_Missense_Mutation_p.K321R|MCTP2_ENST00000451018.3_Missense_Mutation_p.K321R|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	321					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGTGATTTCAAGAGACACGTA	0.378													7	21					0	0	0	0	G	94884146	A	G	94884146	3	3	334	1	0	0	0	0	1	0	0	0	9470	72	3	5	984	5	MCTP2	15	94884146	Missense_Mutation	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	3899271	94884146	7647246	165	61925											
NR2F2	7026	broad.mit.edu	37	chr15	96877373	96877373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcgcgctgaccaacggggatCccctcaactgccactcgtac	8	7	9	17	4	1	1	1	1	0	0	4	2	2	2	4	2	4	2	4	2	3	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:96877373C>G	ENST00000394166.3	+	2	1900	c.511C>G	c.(511-513)Ccc>Gcc	p.P171A	NR2F2_ENST00000453270.2_Missense_Mutation_p.P18A|NR2F2_ENST00000421109.2_Missense_Mutation_p.P38A|NR2F2_ENST00000394171.2_Missense_Mutation_p.P18A	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	171	Interaction with ZFPM2 (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CAACGGGGATCCCCTCAACTG	0.642													17	180					0	0	0	0	G	96877373	C	G	96877373	3	3	334	1	0	0	0	0	1	0	0	0	10699	855	30	2	564	2	NR2F2	15	96877373	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	1993227	96877373	5654019	166	61926											
ZNF598	90850	broad.mit.edu	37	chr16	2051070	2051070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcctcaggtccccgcgccGctgcctcctccttcttgggc	2	10	10	19	3	2	0	1	0	1	0	6	1	6	0	7	2	1	1	7	2	0	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:2051070G>A	ENST00000563630.1	-	7	1213	c.971C>T	c.(970-972)gCg>gTg	p.A324V	ZNF598_ENST00000431526.1_Missense_Mutation_p.A379V|ZNF598_ENST00000562103.1_Missense_Mutation_p.A324V			Q86UK7	ZN598_HUMAN	zinc finger protein 598	379						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TCCCCGCGCCGCTGCCTCCTC	0.711													4	9					0	0	0	0	A	2051070	G	A	2051070	3	1	334	1	0	0	0	0	1	0	0	0	18123	1087	38	1	1602	1	ZNF598	16	2051070	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08		2051070	88303683	167	61927											
CCNF	899	broad.mit.edu	37	chr16	2499298	2499298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctaggtccccactgtggtgGattacaaggaggtcctgctg	7	11	13	10	0	1	0	0	0	1	0	3	2	3	2	3	5	2	1	3	5	3	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:2499298G>T	ENST00000397066.4	+	12	1322	c.1234G>T	c.(1234-1236)Gat>Tat	p.D412Y		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	412					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CACTGTGGTGGATTACAAGGA	0.657													17	38					3.52763e-06	3.69911e-06	1	0	T	2499298	G	T	2499298	3	4	334	1	0	0	0	0	1	0	0	0	2951	1174	41	2	1280	2	CCNF	16	2499298	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	448228	2499298	87855455	168	61928											
HMOX2	3163	broad.mit.edu	37	chr16	4557930	4557932	+	In_Frame_Del	DEL	ATA	ATA	-																															acgtggagcggatccactacAtagggcagaacgagccggag																										TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:4557930_4557932delATA	ENST00000570646.1	+	4	1026_1028	c.421_423delATA	c.(421-423)del	p.I141del	HMOX2_ENST00000219700.6_In_Frame_Del_p.I141del|HMOX2_ENST00000414777.1_In_Frame_Del_p.I141del|HMOX2_ENST00000458134.3_In_Frame_Del_p.I141del|HMOX2_ENST00000406590.2_In_Frame_Del_p.I141del|HMOX2_ENST00000575120.1_In_Frame_Del_p.I112del|HMOX2_ENST00000398595.3_In_Frame_Del_p.I141del	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	141					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GATCCACTACATAGGGCAGAACG	0.606													11	33	---	---	---	---					-	4557932	ATA	-	4557930	7	5	334	1	0	1	0	1	0	0	0	0	7294	217	8	0	431	0	HMOX2	16	4557930	In_Frame_Del	DEL	ATA	TCGA-CV-A45U-01A-12D-A24D-08	2058632	4557930	85796823	169	61929											
ABCC1	4363	broad.mit.edu	37	chr16	16208700	16208700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtctgcacgtggacctgCtgcacagcatcctgcggtca	6	9	12	14	2	2	0	1	0	1	0	3	1	3	1	2	2	5	5	2	2	0	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:16208700C>A	ENST00000399408.2	+	24	3362	c.3187C>A	c.(3187-3189)Ctg>Atg	p.L1063M	ABCC1_ENST00000351154.5_Missense_Mutation_p.L994M|ABCC1_ENST00000346370.5_Missense_Mutation_p.L997M|ABCC1_ENST00000399410.3_Missense_Mutation_p.L1053M|ABCC1_ENST00000349029.5_Missense_Mutation_p.L938M|ABCC1_ENST00000345148.5_Missense_Mutation_p.L1053M			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1053	ABC transmembrane type-1 2.				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)	CGTGGACCTGCTGCACAGCAT	0.597													8	22					0.000274275	0.0002827	1	0	A	16208700	C	A	16208700	3	1	334	1	0	0	0	0	1	0	0	0	49	796	28	4	3247	4	ABCC1	16	16208700	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	11650770	16208700	74146053	170	61930											
VWA3A	146177	broad.mit.edu	37	chr16	22159581	22159581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgcagcaggtgaagacaGagctggttttgctgatttgg	9	11	14	7	0	0	4	0	2	0	2	0	4	0	4	1	3	4	5	1	3	1	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:22159581G>A	ENST00000389397.4	+	29	3106	c.244G>A	c.(244-246)Gag>Aag	p.E82K	VWA3A_ENST00000563755.1_Missense_Mutation_p.E82K|VWA3A_ENST00000389398.5_Missense_Mutation_p.E980K			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	980						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGTGAAGACAGAGCTGGTTTT	0.572													4	9					0	0	0	0	A	22159581	G	A	22159581	3	1	334	1	0	0	0	0	1	0	0	0	17336	943	33	2	3048	2	VWA3A	16	22159581	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	5950881	22159581	68195172	171	61931											
ZNF747	65988	broad.mit.edu	37	chr16	30544429	30544429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggcttctccagggctccCgtcccttccctttgtctttc	1	15	8	17	2	2	0	0	0	2	0	8	0	5	0	4	2	0	2	4	2	0	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:30544429C>A	ENST00000252799.3	-	2	1194	c.527G>T	c.(526-528)cGg>cTg	p.R176L	ZNF747_ENST00000395094.3_Missense_Mutation_p.R175L|ZNF747_ENST00000569360.1_Silent_p.T128T|ZNF747_ENST00000535210.1_Silent_p.T128T|ZNF747_ENST00000568028.1_Silent_p.T128T	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	176					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			kidney(1)|lung(3)|prostate(1)	5						CCAGGGCTCCCGTCCCTTCCC	0.607													30	49					4.11147e-13	4.56495e-13	1	0	A	30544429	C	A	30544429	3	1	334	1	0	0	0	0	1	0	0	0	18224	652	23	3	52	3	ZNF747	16	30544429	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	8384848	30544429	59810324	172	61932											
RNF40	9810	broad.mit.edu	37	chr16	30774767	30774767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactgtggaagcccttctccGatgccatgagagccaggggg	9	7	14	11	1	1	1	0	1	1	1	2	4	1	2	4	3	4	0	4	3	2	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:30774767G>A	ENST00000324685.6	+	4	764	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.R110Q|RNF40_ENST00000357890.5_Missense_Mutation_p.R110Q	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	110					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCCCTTCTCCGATGCCATGAG	0.542													20	87					0	0	0	0	A	30774767	G	A	30774767	3	1	334	1	0	0	0	0	1	0	0	0	13578	1058	37	1	339	1	RNF40	16	30774767	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	230338	30774767	59579986	173	61933											
ZNF319	57567	broad.mit.edu	37	chr16	58031086	58031086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtcttgtgtgtgcgccGgtggcgcatcagtgcgtact	3	12	15	11	5	2	0	1	0	1	0	3	0	2	0	1	3	3	2	1	3	1	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:58031086G>A	ENST00000299237.2	-	2	1706	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TGTGTGCGCCGGTGGCGCATC	0.642													29	48					0	0	0	0	A	58031086	G	A	58031086	3	1	334	1	0	0	0	0	1	0	0	0	17932	1115	39	1	668	1	ZNF319	16	58031086	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	27256319	58031086	32323667	174	61934											
ZNF319	57567	broad.mit.edu	37	chr16	58031159	58031159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagggccgctcggcgctGtgtgtgcgctcatgctgccg	3	10	16	12	5	1	1	1	1	0	0	2	1	1	1	2	2	3	4	2	2	1	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:58031159G>A	ENST00000299237.2	-	2	1633	c.1011C>T	c.(1009-1011)caC>caT	p.H337H		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCTCGGCGCTGTGTGTGCGCT	0.682													22	20					0	0	0	0	A	58031159	G	A	58031159	2	1	334	1	0	0	0	0	0	0	0	1	17932	1368	48	4		4	ZNF319	16	58031159	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	73	58031159	32323594	175	61935											
GFOD2	81577	broad.mit.edu	37	chr16	67709410	67709410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtggcagagttcttctgcCcatagaggtcggctccccgg	5	9	14	13	3	2	2	0	0	2	2	4	2	3	2	3	4	1	3	3	4	1	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:67709410C>T	ENST00000268797.7	-	3	1151	c.806G>A	c.(805-807)gGg>gAg	p.G269E	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	269						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GTTCTTCTGCCCATAGAGGTC	0.627													9	63					0	0	0	0	T	67709410	C	T	67709410	3	4	334	1	0	0	0	0	1	0	0	0	6395	623	22	4	355	4	GFOD2	16	67709410	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	9678251	67709410	22645343	176	61936											
CHST5	23563	broad.mit.edu	37	chr16	75563610	75563610	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagcacggcccgcgggtCgcgcaccaggtgcacgatgc	6	3	16	16	7	0	0	0	0	0	0	1	1	0	0	2	3	3	4	2	3	0	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:75563610C>A	ENST00000336257.3	-	3	2067	c.673G>T	c.(673-675)Gac>Tac	p.D225Y	CHST5_ENST00000541075.1_Missense_Mutation_p.D231Y|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	225					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	p.D225Y(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCCCGCGGGTCGCGCACCAGG	0.701													21	88					1.50039e-11	1.64173e-11	1	0	A	75563610	C	A	75563610	3	1	334	1	0	0	0	0	1	0	0	0	3436	884	31	3	566	3	CHST5	16	75563610	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	7854200	75563610	14791143	177	61937											
FOXC2	2303	broad.mit.edu	37	chr16	86601490	86601490	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaggagcgggcccacctCaaggagccgcccccggcggc	8	1	16	16	4	1	0	1	0	0	0	1	3	1	3	5	6	2	0	5	6	2	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:86601490C>G	ENST00000320354.4	+	1	634	c.549C>G	c.(547-549)ctC>ctG	p.L183L		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	183					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GGGCCCACCTCAAGGAGCCGC	0.677									Late-onset Hereditary Lymphedema				4	68					0	0	0	0	G	86601490	C	G	86601490	2	3	334	1	0	0	0	0	0	0	0	1	6040	813	29	2		2	FOXC2	16	86601490	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	11037880	86601490	3753263	178	61938											
ACSF3	197322	broad.mit.edu	37	chr16	89167169	89167169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgcctgcgagacacaGaggaagtggtcttctgcaca	9	7	14	11	2	2	2	0	0	2	2	2	4	2	3	1	3	2	2	1	3	1	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:89167169G>T	ENST00000317447.4	+	3	457	c.80G>T	c.(79-81)aGa>aTa	p.R27I	ACSF3_ENST00000406948.3_Missense_Mutation_p.R27I|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	27					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCGAGACACAGAGGAAGTGGT	0.687													11	46					2.68362e-12	2.95786e-12	1	0	T	89167169	G	T	89167169	3	4	334	1	0	0	0	0	1	0	0	0	176	942	33	2	82	2	ACSF3	16	89167169	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	2565679	89167169	1187584	179	61939											
TP53	7157	broad.mit.edu	37	chr17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctccctgggggcagctCgtggtgaggctcccctttct	3	11	14	13	1	1	1	0	1	1	0	4	1	3	1	3	4	2	4	3	4	0	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGGGCAGCTCGTGGTGAGGC	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			39	31					2.95478e-19	3.38009e-19	1	0	A	7577046	C	A	7577046	4	1	334	1	0	0	0	0	0	1	0	0	16476	893	31	3	394	3	TP53	17	7577046	Nonsense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08		7577046	73618164	180	61940											
MYH13	8735	broad.mit.edu	37	chr17	10265729	10265729	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtacagaacagcaggtTcatgcaggtgagtcatcatg	11	10	13	7	0	3	2	3	1	0	1	3	2	3	2	0	3	4	5	0	3	2	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:10265729T>G	ENST00000418404.3	-	3	459	c.296A>C	c.(295-297)gAa>gCa	p.E99A	MYH13_ENST00000570743.1_Missense_Mutation_p.E99A|MYH13_ENST00000252172.4_Missense_Mutation_p.E99A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	99	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AACAGCAGGTTCATGCAGGTG	0.458													7	152					0	0	0	0	G	10265729	T	G	10265729	3	3	334	1	0	0	0	0	1	0	0	0	10102	1783	62	5	5672	5	MYH13	17	10265729	Missense_Mutation	SNP	T	TCGA-CV-A45U-01A-12D-A24D-08	2688683	10265729	70929481	181	61941											
FLII	2314	broad.mit.edu	37	chr17	18152027	18152027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattcttgttaattttctctGcaaagagcctgagagcagga	11	13	9	8	0	2	2	0	1	2	2	3	4	2	3	1	1	3	3	1	1	2	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:18152027G>A	ENST00000327031.4	-	18	2252	c.2027C>T	c.(2026-2028)gCa>gTa	p.A676V	FLII_ENST00000545457.2_Missense_Mutation_p.A621V|FLII_ENST00000579294.1_Missense_Mutation_p.A665V|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.A590V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	676	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					AATTTTCTCTGCAAAGAGCCT	0.557											OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	406					0	0	0	0	A	18152027	G	A	18152027	3	1	334	1	0	0	0	0	1	0	0	0	5970	1319	46	4	1834	4	FLII	17	18152027	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	7886298	18152027	63043183	182	61942											
NUFIP2	57532	broad.mit.edu	37	chr17	27613894	27613894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagttggtgacacagaaGagttctgtatagttttgttg	11	15	12	3	0	1	4	0	2	1	2	1	4	1	4	0	1	0	5	0	1	4	7			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:27613894G>A	ENST00000225388.4	-	2	1176	c.1118C>T	c.(1117-1119)tCt>tTt	p.S373F	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	373	Ser-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGACACAGAAGAGTTCTGTAT	0.423													24	101					0	0	0	0	A	27613894	G	A	27613894	3	1	334	1	0	0	0	0	1	0	0	0	10820	942	33	2	981	2	NUFIP2	17	27613894	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	9461867	27613894	53581316	183	61943											
NF1	4763	broad.mit.edu	37	chr17	29490346	29490346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctctggggttttattttCtctcagctgcaacaacttca	7	16	7	11	0	4	0	2	0	2	0	5	0	4	0	1	2	5	3	1	2	3	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:29490346C>T	ENST00000358273.4	+	4	814	c.431C>T	c.(430-432)tCt>tTt	p.S144F	NF1_ENST00000431387.4_Missense_Mutation_p.S144F|NF1_ENST00000356175.3_Missense_Mutation_p.S144F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	144					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTTATTTTCTCTCAGCTGC	0.418			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	40					0	0	0	0	T	29490346	C	T	29490346	3	4	334	1	0	0	0	0	1	0	0	0	10426	913	32	2	445	2	NF1	17	29490346	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	1876452	29490346	51704864	184	61944											
RFFL	117584	broad.mit.edu	37	chr17	33339097	33339097	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgtggccacactccagaaGaacacagtcaatgggtgagt	13	7	11	10	0	1	3	1	1	0	2	2	3	2	3	2	2	1	0	2	2	3	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:33339097G>C	ENST00000315249.7	-	7	1204	c.982C>G	c.(982-984)Ctt>Gtt	p.L328V	RFFL_ENST00000413582.2_Missense_Mutation_p.L320V|RFFL_ENST00000378516.2_Missense_Mutation_p.L320V|RFFL_ENST00000268850.7_Missense_Mutation_p.L292V|RFFL_ENST00000447669.2_Missense_Mutation_p.L328V|RFFL_ENST00000394597.2_Missense_Mutation_p.L328V|RFFL_ENST00000415395.2_Missense_Mutation_p.L328V|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.L237V|RFFL_ENST00000584655.1_Missense_Mutation_p.L292V			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	328					apoptosis	membrane	ligase activity|zinc ion binding	p.L328F(1)		kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CACTCCAGAAGAACACAGTCA	0.502													11	53					0	0	0	0	C	33339097	G	C	33339097	3	2	334	1	0	0	0	0	1	0	0	0	13332	942	33	2	113	2	RFFL	17	33339097	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	3848751	33339097	47856113	185	61945											
GSDMA	284110	broad.mit.edu	37	chr17	38133089	38133089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggagagcacgatggaacaGaacttcctgctggataaaga	14	7	13	7	1	0	3	0	0	0	3	1	7	1	5	1	3	4	2	1	3	4	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:38133089G>A	ENST00000301659.4	+	12	1234	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	372					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CGATGGAACAGAACTTCCTGC	0.522													18	80					0	0	0	0	A	38133089	G	A	38133089	2	1	334	1	0	0	0	0	0	0	0	1	6866	933	33	2		2	GSDMA	17	38133089	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	4793992	38133089	43062121	186	61946											
HAP1	9001	broad.mit.edu	37	chr17	39881040	39881040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctggagcatcttccacctCagctgccgcctgtaatgggc	6	11	10	14	1	3	0	1	0	2	0	4	1	4	1	4	2	3	3	4	2	1	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:39881040C>T	ENST00000393939.2	-	10	1707	c.1698G>A	c.(1696-1698)ctG>ctA	p.L566L	HAP1_ENST00000347901.4_Silent_p.L591L|HAP1_ENST00000341193.5_Silent_p.L574L|JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Silent_p.L643L			P54257	HAP1_HUMAN	huntingtin-associated protein 1	643	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCTTCCACCTCAGCTGCCGCC	0.627													42	149					0	0	0	0	T	39881040	C	T	39881040	2	4	334	1	0	0	0	0	0	0	0	1	7003	813	29	2		2	HAP1	17	39881040	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	1747951	39881040	41314170	187	61947											
FAM134C	162427	broad.mit.edu	37	chr17	40733939	40733939	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtctgaactgggggaccgGaggaagcctctcgttgctct	7	9	15	10	2	3	1	0	1	3	0	4	4	3	4	2	5	3	2	2	5	2	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:40733939G>T	ENST00000309428.5	-	9	1352	c.1293C>A	c.(1291-1293)ctC>ctA	p.L431L	FAM134C_ENST00000543197.1_Silent_p.L236L|FAM134C_ENST00000585894.1_Silent_p.L334L	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	431						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		TGGGGGACCGGAGGAAGCCTC	0.607													6	49					0.0215528	0.0218421	1	0	T	40733939	G	T	40733939	2	4	334	1	0	0	0	0	0	0	0	1	5488	1161	41	2		2	FAM134C	17	40733939	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	852899	40733939	40461271	188	61948											
WNK4	65266	broad.mit.edu	37	chr17	40946994	40946994	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catttcttcccaggtctcctCaaatccctctccacacccca	8	11	2	20	0	4	0	1	0	3	0	8	0	6	0	6	1	0	0	6	1	1	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:40946994C>G	ENST00000246914.5	+	14	2576	c.2555C>G	c.(2554-2556)tCa>tGa	p.S852*		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	852					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGGTCTCCTCAAATCCCTCT	0.597													16	141					0	0	0	0	G	40946994	C	G	40946994	4	3	334	1	0	0	0	0	0	1	0	0	17476	838	29	2	2609	2	WNK4	17	40946994	Nonsense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	213055	40946994	40248216	189	61949											
WNK4	65266	broad.mit.edu	37	chr17	40947762	40947762	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccaaaaccttcaacccctCagctcacttcagagagctca	12	8	4	17	0	5	1	5	0	0	1	6	2	6	1	4	0	4	2	4	0	3	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:40947762C>T	ENST00000246914.5	+	16	3163	c.3142C>T	c.(3142-3144)Cag>Tag	p.Q1048*		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1048					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCAACCCCTCAGCTCACTTC	0.587													4	48					0	0	0	0	T	40947762	C	T	40947762	4	4	334	1	0	0	0	0	0	1	0	0	17476	827	29	2	3204	2	WNK4	17	40947762	Nonsense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	768	40947762	40247448	190	61950											
MPP2	4355	broad.mit.edu	37	chr17	41955244	41955244	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatggctgtctggagctcGcggaaggtcctctccaggtt	5	11	13	12	2	2	0	0	0	2	0	6	2	4	2	3	5	1	3	3	5	1	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:41955244G>A	ENST00000269095.4	-	13	1894	c.1590C>T	c.(1588-1590)cgC>cgT	p.R530R	MPP2_ENST00000523501.1_Silent_p.R519R|MPP2_ENST00000518766.1_Silent_p.R575R|MPP2_ENST00000520305.1_Silent_p.R391R|MPP2_ENST00000377184.3_Silent_p.R547R|MPP2_ENST00000461854.1_Silent_p.R554R|MPP2_ENST00000536246.1_Silent_p.R519R	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	554	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TCTGGAGCTCGCGGAAGGTCC	0.602													20	81					0	0	0	0	A	41955244	G	A	41955244	2	1	334	1	0	0	0	0	0	0	0	1	9804	1074	38	1		1	MPP2	17	41955244	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	1007482	41955244	39239966	191	61951											
LAMA1	284217	broad.mit.edu	37	chr18	6999461	6999461	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaacacaatctgtttccAtcagaatgtgcctcggttca	12	11	6	12	1	3	1	2	0	1	1	5	1	4	1	2	1	2	2	2	1	3	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:6999461A>G	ENST00000389658.3	-	32	4739	c.4646T>C	c.(4645-4647)aTg>aCg	p.M1549T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1549	Laminin EGF-like 17.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCTGTTTCCATCAGAATGTG	0.522													5	43					0	0	0	0	G	6999461	A	G	6999461	3	3	334	1	0	0	0	0	1	0	0	0	8658	217	8	5	4709	5	LAMA1	18	6999461	Missense_Mutation	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08		6999461	71077787	192	61952											
TWSG1	57045	broad.mit.edu	37	chr18	9396466	9396466	+	Nonsense_Mutation	SNP	G	G	T																															agaatctggtttcatttttaGaaactgtgaaccagccacac																										TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:9396466G>T	ENST00000262120.5	+	4	603	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	TWSG1_ENST00000581641.1_Nonsense_Mutation_p.E138*	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	138										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TTCATTTTTAGAAACTGTGAA	0.443													24	49					2.89027e-11	3.15112e-11	1	0	T	9396466	G	T	9396466	4	4	334	1	0	0	0	0	0	1	0	0	16881	943	33	2	422	2	TWSG1	18	9396466	Nonsense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	2397005	9396466	68680782	193	61953	740	2									
TWSG1	57045	broad.mit.edu	37	chr18	9396470	9396470	+	Missense_Mutation	SNP	C	C	A																															tctggtttcatttttagaaaCtgtgaaccagccacaccacc																										TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:9396470C>A	ENST00000262120.5	+	4	607	c.416C>A	c.(415-417)aCt>aAt	p.T139N	TWSG1_ENST00000581641.1_Missense_Mutation_p.T139N	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	139										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TTTTTAGAAACTGTGAACCAG	0.433													22	51					1.96292e-10	2.12474e-10	1	0	A	9396470	C	A	9396470	3	1	334	1	0	0	0	0	1	0	0	0	16881	565	20	4	426	4	TWSG1	18	9396470	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	4	9396470	68680778	194	61954	740	2									
PIGN	23556	broad.mit.edu	37	chr18	59825034	59825035	+	Frame_Shift_Ins	INS	-	-	A																															cagctgccttcatgcattatINSgatattcctaaaagatatta																										TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:59825034_59825035insA	ENST00000357637.5	-	5	643_644	c.228_229insT	c.(226-231)attaatfs	p.N77fs	PIGN_ENST00000400334.3_Frame_Shift_Ins_p.N77fs	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	77					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	p.I77V(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TCATGCATTATGATATTCCTAA	0.371													4	6	---	---	---	---					A	59825035	-	A	59825034	7	5	334	1	0	1	1	0	0	0	0	0	11965	1464	51	0	2674	0	PIGN	18	59825034	Frame_Shift_Ins	INS	-	TCGA-CV-A45U-01A-12D-A24D-08	50428564	59825034	18252214	195	61955											
SERPINB4	6318	broad.mit.edu	37	chr18	61305169	61305169	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatactgagagaccgtggctCcaggtcatgcctgagaggtc	9	8	14	10	1	1	3	1	2	0	2	3	6	2	3	3	3	2	1	3	3	1	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:61305169C>G	ENST00000341074.5	-	8	1072	c.957G>C	c.(955-957)tgG>tgC	p.W319C	SERPINB4_ENST00000356424.6_Missense_Mutation_p.W267C	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GACCGTGGCTCCAGGTCATGC	0.517													5	68					0	0	0	0	G	61305169	C	G	61305169	3	3	334	1	0	0	0	0	1	0	0	0	14190	856	30	2	219	2	SERPINB4	18	61305169	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	1480135	61305169	16772079	196	61956											
MED16	10025	broad.mit.edu	37	chr19	889662	889662	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacgtgcagggccagtttCacaccattgtgcagccagga	9	8	11	13	1	1	0	1	0	0	0	2	1	2	1	4	2	3	3	4	2	0	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:889662C>T	ENST00000312090.6	-	4	573	c.423G>A	c.(421-423)gtG>gtA	p.V141V	MED16_ENST00000325464.1_Silent_p.V141V|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Silent_p.V141V|MED16_ENST00000589119.1_Silent_p.V141V|MED16_ENST00000269814.4_Silent_p.V141V			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	141					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		GGGCCAGTTTCACACCATTGT	0.632													10	25					0	0	0	0	T	889662	C	T	889662	2	4	334	1	0	0	0	0	0	0	0	1	9503	813	29	2		2	MED16	19	889662	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08		889662	58239321	197	61957											
FZR1	51343	broad.mit.edu	37	chr19	3526992	3526992	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtattcccttagcacCaagcgctccagccccgatga	10	7	7	17	2	0	1	0	1	0	0	2	2	2	1	6	0	3	3	6	0	3	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:3526992C>T	ENST00000441788.2	+	6	638	c.402C>T	c.(400-402)acC>acT	p.T134T	FZR1_ENST00000395095.3_Silent_p.T134T|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	134					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTTAGCACCAAGCGCTCCA	0.662													24	86					0	0	0	0	T	3526992	C	T	3526992	2	4	334	1	0	0	0	0	0	0	0	1	6186	581	21	4		4	FZR1	19	3526992	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	2637330	3526992	55601991	198	61958											
MUC16	94025	broad.mit.edu	37	chr19	9061573	9061573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagacgtggctaatatttCagctgaggtgctgctcaaat	10	13	10	8	1	3	2	3	1	0	1	3	2	3	2	0	2	3	4	0	2	3	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:9061573C>T	ENST00000397910.4	-	3	26076	c.25873G>A	c.(25873-25875)Gaa>Aaa	p.E8625K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8627	Ser-rich.|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						GCTAATATTTCAGCTGAGGTG	0.453													24	55					0	0	0	0	T	9061573	C	T	9061573	3	4	334	1	0	0	0	0	1	0	0	0	10043	835	29	2	17978	2	MUC16	19	9061573	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	5534581	9061573	50067410	199	61959											
PRKCSH	5589	broad.mit.edu	37	chr19	11559735	11559735	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggtcctccacagatacgtCtaccgcctctgccccttcaa	7	9	6	19	3	3	1	1	0	2	1	5	1	5	1	7	1	3	0	7	1	3	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:11559735C>G	ENST00000252455.2	+	15	1608	c.1272C>G	c.(1270-1272)gtC>gtG	p.V424V	PRKCSH_ENST00000591462.1_Silent_p.V421V|PRKCSH_ENST00000587327.1_Silent_p.V421V|PRKCSH_ENST00000592741.1_Silent_p.V431V|PRKCSH_ENST00000412601.1_Silent_p.V421V|PRKCSH_ENST00000589838.1_Silent_p.V424V	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	424	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ACAGATACGTCTACCGCCTCT	0.642													8	149					0	0	0	0	G	11559735	C	G	11559735	2	3	334	1	0	0	0	0	0	0	0	1	12596	900	32	2		2	PRKCSH	19	11559735	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	2498162	11559735	47569248	200	61960											
ZNF563	147837	broad.mit.edu	37	chr19	12430288	12430298	+	Frame_Shift_Del	DEL	AGGTTTCTACG	AGGTTTCTACG	-																															gcactaccatgtgtcttcgaAggtttctacgagaactgaag																										TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:12430288_12430298delAGGTTTCTACG	ENST00000293725.5	-	4	746_756	c.541_551delCGTAGAAACCT	c.(541-552)tfs	p.RRNL181fs	ZNF563_ENST00000595977.1_Frame_Shift_Del_p.RRNL181fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTGTCTTCGAAGGTTTCTACGAGAACTGAAG	0.422													20	78	---	---	---	---					-	12430298	AGGTTTCTACG	-	12430288	7	5	334	1	0	1	0	1	0	0	0	0	18089	72	3	0	883	0	ZNF563	19	12430288	Frame_Shift_Del	DEL	AGGTTTCTACG	TCGA-CV-A45U-01A-12D-A24D-08	870553	12430288	46698695	201	61961											
ZNF43	7594	broad.mit.edu	37	chr19	21991574	21991574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacatttgtagggtttctctCcagtatgagttaacttatgt	9	17	8	7	0	1	1	0	1	1	0	3	1	2	1	1	1	1	4	1	1	4	6			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:21991574C>G	ENST00000594012.1	-	7	1761	c.1247G>C	c.(1246-1248)gGa>gCa	p.G416A	ZNF43_ENST00000354959.4_Missense_Mutation_p.G422A|ZNF43_ENST00000598381.1_Missense_Mutation_p.G416A|ZNF43_ENST00000595461.1_Missense_Mutation_p.G416A	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGGTTTCTCTCCAGTATGAGT	0.373													16	43					0	0	0	0	G	21991574	C	G	21991574	3	3	334	1	0	0	0	0	1	0	0	0	17998	855	30	2	1168	2	ZNF43	19	21991574	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	9561286	21991574	37137409	202	61962											
ZNF208	7757	broad.mit.edu	37	chr19	22156461	22156461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatactaaagcctttgcCacattcttcacatttgtagg	12	13	6	10	0	2	0	1	0	1	0	2	1	2	0	2	1	4	1	2	1	5	7			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:22156461C>A	ENST00000397126.4	-	4	1523	c.1375G>T	c.(1375-1377)Ggc>Tgc	p.G459C	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGCCTTTGCCACATTCTTCA	0.378													11	41					3.86212e-05	4.02193e-05	1	0	A	22156461	C	A	22156461	3	1	334	1	0	0	0	0	1	0	0	0	17861	594	21	4	2471	4	ZNF208	19	22156461	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	164887	22156461	36972522	203	61963											
ZNF181	339318	broad.mit.edu	37	chr19	35232847	35232847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagccatataaatgtaatGagtgtgggaaagcttttagc	16	11	10	4	0	0	1	0	1	0	0	0	2	0	2	1	1	3	2	1	1	8	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:35232847G>A	ENST00000392232.3	+	6	1861	c.1693G>A	c.(1693-1695)Gag>Aag	p.E565K	ZNF181_ENST00000459757.1_Missense_Mutation_p.E520K|ZNF181_ENST00000492450.1_Missense_Mutation_p.E521K			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TAAATGTAATGAGTGTGGGAA	0.388													6	68					0	0	0	0	A	35232847	G	A	35232847	3	1	334	1	0	0	0	0	1	0	0	0	17844	1291	45	2	1575	2	ZNF181	19	35232847	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	13076386	35232847	23896136	204	61964											
ZNF260	339324	broad.mit.edu	37	chr19	37005172	37005172	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatcacctgtatgaattctCacatgtacaataagtgatgt	13	15	6	7	0	2	2	2	2	1	0	3	2	2	2	1	0	1	2	1	0	6	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:37005172C>G	ENST00000523638.1	-	3	2090	c.969G>C	c.(967-969)gtG>gtC	p.V323V	ZNF260_ENST00000593142.1_Silent_p.V323V|ZNF260_ENST00000592282.1_Silent_p.V323V|ZNF260_ENST00000588993.1_Silent_p.V323V	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	323					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TATGAATTCTCACATGTACAA	0.388													6	79					0	0	0	0	G	37005172	C	G	37005172	2	3	334	1	0	0	0	0	0	0	0	1	17897	813	29	2		2	ZNF260	19	37005172	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	1772325	37005172	22123811	205	61965											
ZNF571	51276	broad.mit.edu	37	chr19	38055701	38055701	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagatgttcagtaaggtgTgagccacgaataaaagcctt	13	10	10	8	1	2	2	2	1	0	1	2	3	2	2	2	1	2	2	2	1	4	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:38055701T>C	ENST00000328550.2	-	4	1728	c.1629A>G	c.(1627-1629)tcA>tcG	p.S543S	ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000593133.1_Silent_p.S543S|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000358744.3_Silent_p.S543S|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000451802.2_Silent_p.S543S			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGTAAGGTGTGAGCCACGAA	0.423													26	25					0	0	0	0	C	38055701	T	C	38055701	2	2	334	1	0	0	0	0	0	0	0	1	18098	1683	59	5		5	ZNF571	19	38055701	Silent	SNP	T	TCGA-CV-A45U-01A-12D-A24D-08	1050529	38055701	21073282	206	61966											
CATSPERG	57828	broad.mit.edu	37	chr19	38861368	38861368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggatgggctccatgttcaGctccaggatgacagaggaca	11	7	13	10	0	1	2	1	1	0	1	3	5	3	5	2	4	1	3	2	4	0	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:38861368G>A	ENST00000409235.3	+	29	3531	c.3416G>A	c.(3415-3417)aGc>aAc	p.S1139N	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S1099N	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1139					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCCATGTTCAGCTCCAGGATG	0.557													27	90					0	0	0	0	A	38861368	G	A	38861368	3	1	334	1	0	0	0	0	1	0	0	0	2717	971	34	4	3526	4	CATSPERG	19	38861368	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	805667	38861368	20267615	207	61967											
MAP3K10	4294	broad.mit.edu	37	chr19	40718876	40718876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaggagcgggtgggaggaGaggagaggtgaggtgtggtg	10	5	25	1	1	0	4	0	1	0	3	0	8	0	6	0	8	1	0	0	8	1	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:40718876G>C	ENST00000253055.3	+	7	2005	c.1717G>C	c.(1717-1719)Gag>Cag	p.E573Q		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	573					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGTGGGAGGAGAGGAGAGGTG	0.662													17	27					0	0	0	0	C	40718876	G	C	40718876	3	2	334	1	0	0	0	0	1	0	0	0	9313	943	33	2	1743	2	MAP3K10	19	40718876	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	1857508	40718876	18410107	208	61968											
LTBP4	8425	broad.mit.edu	37	chr19	41115660	41115660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtgtcctcagatgtggacGaatgtcgccgcgtgcccccg	5	8	13	15	6	1	1	1	0	0	1	3	3	2	2	5	1	1	0	5	1	1	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:41115660G>A	ENST00000308370.7	+	14	1768	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	LTBP4_ENST00000545697.1_Missense_Mutation_p.E43K|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.E523K|LTBP4_ENST00000204005.9_Missense_Mutation_p.E553K	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	590	Cys-rich.|EGF-like 4; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGATGTGGACGAATGTCGCCG	0.706													4	38					0	0	0	0	A	41115660	G	A	41115660	3	1	334	1	0	0	0	0	1	0	0	0	9140	1059	37	1	2115	1	LTBP4	19	41115660	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	396784	41115660	18013323	209	61969											
TGFB1	7040	broad.mit.edu	37	chr19	41858677	41858677	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgggctccggttctgcactCtccccggccacccggtcgcg	2	8	12	19	6	2	0	0	0	2	0	6	0	3	0	5	4	1	3	5	4	0	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:41858677C>G	ENST00000221930.5	-	1	1139	c.273G>C	c.(271-273)gaG>gaC	p.E91D	TMEM91_ENST00000539627.1_Intron	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	91					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	GTTCTGCACTCTCCCCGGCCA	0.721											OREG0025483	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	18					0	0	0	0	G	41858677	C	G	41858677	3	3	334	1	0	0	0	0	1	0	0	0	15910	912	32	2	927	2	TGFB1	19	41858677	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	743017	41858677	17270306	210	61970											
ZNF285	26974	broad.mit.edu	37	chr19	44891190	44891190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcttgaactaaagcacttgCcacactcactgcatttgtag	12	11	7	11	0	1	1	1	1	0	0	1	1	1	1	1	0	5	4	1	0	4	5			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:44891190C>A	ENST00000330997.4	-	4	1281	c.1217G>T	c.(1216-1218)gGc>gTc	p.G406V	ZNF285_ENST00000591679.1_Missense_Mutation_p.G413V|ZNF285_ENST00000544719.2_Missense_Mutation_p.G406V|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AAAGCACTTGCCACACTCACT	0.493													16	29					5.01169e-05	5.20114e-05	1	0	A	44891190	C	A	44891190	3	1	334	1	0	0	0	0	1	0	0	0	17917	739	26	4	559	4	ZNF285	19	44891190	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	3032513	44891190	14237793	211	61971											
KIR2DL1	3802	broad.mit.edu	37	chr19	55286721	55286721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctcctatgacatgtacCatctatccagggaaggggag	11	8	13	9	0	1	1	0	1	1	0	3	4	3	4	3	4	2	2	3	4	4	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:55286721C>T	ENST00000336077.6	+	4	515	c.475C>T	c.(475-477)Cat>Tat	p.H159Y	KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.H159Y|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	159	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TGACATGTACCATCTATCCAG	0.587													29	34					0	0	0	0	T	55286721	C	T	55286721	3	4	334	1	0	0	0	0	1	0	0	0	8368	594	21	4	489	4	KIR2DL1	19	55286721	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	10395531	55286721	3842262	212	61972											
PEG3	5178	broad.mit.edu	37	chr19	57328078	57328078	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattttctggtgctcaatcaGggcagaactatgaaggaagg	12	10	13	6	0	3	2	2	1	1	1	3	4	3	3	0	4	2	2	0	4	5	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:57328078G>A	ENST00000326441.9	-	10	2095	c.1732C>T	c.(1732-1734)Ctg>Ttg	p.L578L	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.L452L|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Silent_p.L454L|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.L578L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	578					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGCTCAATCAGGGCAGAACTA	0.473													20	54					0	0	0	0	A	57328078	G	A	57328078	2	1	334	1	0	0	0	0	0	0	0	1	11791	991	35	4		4	PEG3	19	57328078	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	2041357	57328078	1800905	213	61973											
ZNF548	147694	broad.mit.edu	37	chr19	57910422	57910422	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaaggacttatgagtgcaGagaatgtggaaaatccttta	15	11	11	4	0	0	3	0	2	0	1	1	6	1	5	1	2	1	1	1	2	6	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:57910422G>C	ENST00000366197.5	+	3	1017	c.767G>C	c.(766-768)aGa>aCa	p.R256T	AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R268T|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		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;0.026)		TATGAGTGCAGAGAATGTGGA	0.393													3	40					0	0	0	0	C	57910422	G	C	57910422	3	2	334	1	0	0	0	0	1	0	0	0	18075	942	33	2	817	2	ZNF548	19	57910422	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	582344	57910422	1218561	214	61974											
CHGB	1114	broad.mit.edu	37	chr20	5897558	5897558	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgagtgccgccaagtcctGaagacgagtaagtgtcccac	10	7	11	13	2	0	3	0	2	0	1	2	4	2	3	5	0	1	1	5	0	3	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:5897558G>A	ENST00000378961.4	+	3	387	c.183G>A	c.(181-183)ctG>ctA	p.L61L	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	61						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GCCAAGTCCTGAAGACGAGTA	0.542													27	109					0	0	0	0	A	5897558	G	A	5897558	2	1	334	1	0	0	0	0	0	0	0	1	3368	1277	45	2		2	CHGB	20	5897558	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08		5897558	57127962	215	61975											
MCM8	84515	broad.mit.edu	37	chr20	5966622	5966622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagctattgagaaagtacAttggctatgctcggcagtat	12	11	10	8	1	0	1	0	1	0	1	1	2	0	1	1	2	3	6	1	2	5	6			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:5966622A>G	ENST00000378896.3	+	16	2385	c.2008A>G	c.(2008-2010)Att>Gtt	p.I670V	MCM8_ENST00000265187.4_Missense_Mutation_p.I654V|MCM8_ENST00000378886.2_Missense_Mutation_p.I710V|MCM8_ENST00000378883.1_Missense_Mutation_p.I623V	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	670					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GAGAAAGTACATTGGCTATGC	0.453													22	83					0	0	0	0	G	5966622	A	G	5966622	3	3	334	1	0	0	0	0	1	0	0	0	9462	217	8	5	2066	5	MCM8	20	5966622	Missense_Mutation	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	69064	5966622	57058898	216	61976											
SLC24A3	57419	broad.mit.edu	37	chr20	19698188	19698188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagatccggctgaatagcaGggggctgatctactccgtag	10	8	13	10	2	1	3	0	2	1	1	3	3	3	3	2	3	2	4	2	3	4	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:19698188G>A	ENST00000328041.6	+	16	1933	c.1736G>A	c.(1735-1737)aGg>aAg	p.R579K		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	579						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.R579M(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGAATAGCAGGGGGCTGATC	0.522													13	422					0	0	0	0	A	19698188	G	A	19698188	3	1	334	1	0	0	0	0	1	0	0	0	14555	1000	35	4	1798	4	SLC24A3	20	19698188	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	13731566	19698188	43327332	217	61977											
RALGAPA2	57186	broad.mit.edu	37	chr20	20601267	20601267	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctcacaggaaggcaacAaaaatgcctgaaaggaaaag	19	5	9	8	0	1	1	1	1	1	0	2	3	1	3	1	3	2	1	1	3	8	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:20601267A>T	ENST00000202677.6	-	11	1383	c.1241T>A	c.(1240-1242)tTg>tAg	p.L414*		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	414					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGAAGGCAACAAAAATGCCTG	0.428													6	6					0	0	0	0	T	20601267	A	T	20601267	4	4	334	1	0	0	0	0	0	1	0	0	13096	131	5	5	4496	5	RALGAPA2	20	20601267	Nonsense_Mutation	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08	903079	20601267	42424253	218	61978											
ASXL1	171023	broad.mit.edu	37	chr20	31022389	31022389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcccgtgctctgcaggtccGaggggcgagaggtcaccact	7	6	15	13	3	2	1	1	0	1	1	3	3	3	1	3	4	3	2	3	4	0	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:31022389G>A	ENST00000375687.4	+	13	2298	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	ASXL1_ENST00000306058.5_Missense_Mutation_p.R620Q	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	625					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.A627fs*7(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCAGGTCCGAGGGGCGAGA	0.692			"F, N, Mis"		"MDS, CMML"								8	43					0	0	0	0	A	31022389	G	A	31022389	3	1	334	1	0	0	0	0	1	0	0	0	1070	1058	37	1	1930	1	ASXL1	20	31022389	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	10421122	31022389	32003131	219	61979											
SCAND1	51282	broad.mit.edu	37	chr20	34542206	34542206	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcggctccgtagccgccaTaactccagctccgggcgtca	7	7	11	16	5	1	0	1	0	0	0	5	1	4	0	5	2	3	3	5	2	2	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:34542206T>A	ENST00000373991.3	-	3	1071	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	SCAND1_ENST00000305978.2_Start_Codon_SNP_p.M1L			P57086	SCND1_HUMAN	SCAN domain containing 1	1					viral reproduction	nucleus	identical protein binding|sequence-specific DNA binding transcription factor activity					Breast(12;0.00631)|all_lung(11;0.0233)					GTAGCCGCCATAACTCCAGCT	0.652													8	37					0	0	0	0	A	34542206	T	A	34542206	1	1	334	1	0	0	0	0	0	0	0	0	13961	1406	49	5		5	SCAND1	20	34542206	Translation_Start_Site	SNP	T	TCGA-CV-A45U-01A-12D-A24D-08	3519817	34542206	28483314	220	61980											
EMILIN3	90187	broad.mit.edu	37	chr20	39990047	39990047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggctccacaggccctctCtgggcctcagtggctcagtg	5	9	12	15	0	3	0	2	0	1	0	5	0	4	0	3	4	0	2	3	4	0	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:39990047C>T	ENST00000332312.3	-	4	2354	c.2162G>A	c.(2161-2163)aGa>aAa	p.R721K		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	721						proteinaceous extracellular matrix		p.R721K(1)|p.R721I(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CAGGCCCTCTCTGGGCCTCAG	0.672													4	28					0	0	0	0	T	39990047	C	T	39990047	3	4	334	1	0	0	0	0	1	0	0	0	5133	913	32	2	142	2	EMILIN3	20	39990047	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	5447841	39990047	23035473	221	61981											
KCNB1	3745	broad.mit.edu	37	chr20	47990324	47990324	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtctgtggcacagctaatGaaactatcaatgcttgacat	14	11	8	8	0	2	2	1	2	1	0	2	2	2	2	0	1	3	3	0	1	5	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:47990324G>A	ENST00000371741.4	-	2	1939	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	591					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CACAGCTAATGAAACTATCAA	0.547													10	66					0	0	0	0	A	47990324	G	A	47990324	2	1	334	1	0	0	0	0	0	0	0	1	8065	1281	45	2		2	KCNB1	20	47990324	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	8000277	47990324	15035196	222	61982											
TCP10L	140290	broad.mit.edu	37	chr21	33954617	33954617	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcggagctccatgttctGctccctcaaagcatctatat	8	14	6	13	1	4	0	1	0	3	0	7	1	6	1	2	1	3	4	2	1	3	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr21:33954617G>A	ENST00000300258.3	-	3	366	c.253C>T	c.(253-255)Cag>Tag	p.Q85*	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCCATGTTCTGCTCCCTCAAA	0.542													26	89					0	0	0	0	A	33954617	G	A	33954617	4	1	334	1	0	0	0	0	0	1	0	0	15805	1328	46	4	406	4	TCP10L	21	33954617	Nonsense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08		33954617	14175278	223	61983											
XKR3	150165	broad.mit.edu	37	chr22	17264947	17264947	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagaagttgatggcagcAtatagcagtgtgatcaagaa	15	8	13	5	0	1	4	1	2	0	2	1	5	1	4	0	2	2	4	0	2	5	3			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:17264947A>G	ENST00000331428.5	-	4	1044	c.942T>C	c.(940-942)taT>taC	p.Y314Y		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	314						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGATGGCAGCATATAGCAGTG	0.438													14	47					0	0	0	0	G	17264947	A	G	17264947	2	3	334	1	0	0	0	0	0	0	0	1	17528	224	8	5		5	XKR3	22	17264947	Silent	SNP	A	TCGA-CV-A45U-01A-12D-A24D-08		17264947	34039619	224	61984											
CECR2	27443	broad.mit.edu	37	chr22	18028690	18028690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaccaaggtccctcttctCagataagaatgccatggcca	11	8	7	15	0	2	2	1	0	2	2	4	2	3	2	5	2	1	0	5	2	3	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:18028690C>T	ENST00000262608.8	+	16	3650	c.3650C>T	c.(3649-3651)tCa>tTa	p.S1217L	CECR2_ENST00000400573.4_Missense_Mutation_p.S1216L|CECR2_ENST00000400585.2_Missense_Mutation_p.S1074L	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1258					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCCCTCTTCTCAGATAAGAAT	0.557													14	62					0	0	0	0	T	18028690	C	T	18028690	3	4	334	1	0	0	0	0	1	0	0	0	3235	838	29	2	3711	2	CECR2	22	18028690	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	763743	18028690	33275876	225	61985											
PIWIL3	440822	broad.mit.edu	37	chr22	25150024	25150024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatttattagttacttcctCtcggatgtttcctgtctggg	6	19	8	8	1	2	0	0	0	2	0	5	1	4	1	2	2	1	2	2	2	4	7			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:25150024C>T	ENST00000332271.5	-	8	1350	c.934G>A	c.(934-936)Gag>Aag	p.E312K	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.E203K|PIWIL3_ENST00000533313.1_Missense_Mutation_p.E203K	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	312	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTTACTTCCTCTCGGATGTTT	0.428													7	68					0	0	0	0	T	25150024	C	T	25150024	3	4	334	1	0	0	0	0	1	0	0	0	12031	922	32	2	1770	2	PIWIL3	22	25150024	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	7121334	25150024	26154542	226	61986											
OSBP2	23762	broad.mit.edu	37	chr22	31091274	31091274	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaaggccgcatcggagccGctctcccgggcggtggggag	6	5	17	13	5	1	0	0	0	1	0	3	2	1	2	3	6	1	2	3	6	1	1			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:31091274G>A	ENST00000332585.6	+	1	482	c.378G>A	c.(376-378)ccG>ccA	p.P126P	OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000446658.2_Silent_p.P126P|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000382310.3_Silent_p.P126P	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	126					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CATCGGAGCCGCTCTCCCGGG	0.672													7	65					0	0	0	0	A	31091274	G	A	31091274	2	1	334	1	0	0	0	0	0	0	0	1	11345	1074	38	1		1	OSBP2	22	31091274	Silent	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	5941250	31091274	20213292	227	61987											
SYN3	8224	broad.mit.edu	37	chr22	33376640	33376640	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcccacctacctgctccactCggatctcaatctctccattc	7	12	3	19	1	2	0	1	0	2	0	9	1	5	1	5	1	2	1	5	1	2	2			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:33376640C>G	ENST00000358763.2	-	3	601	c.359G>C	c.(358-360)cGa>cCa	p.R120P	SYN3_ENST00000332840.5_Missense_Mutation_p.R120P	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	120	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTGCTCCACTCGGATCTCAAT	0.473													13	134					0	0	0	0	G	33376640	C	G	33376640	3	3	334	1	0	0	0	0	1	0	0	0	15533	884	31	3	1431	3	SYN3	22	33376640	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	2285366	33376640	17927926	228	61988											
NHP2L1	4809	broad.mit.edu	37	chr22	42076365	42076365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttggattcacatcagcctCagtctatgggggggacataa	10	11	11	9	0	4	0	3	0	1	0	4	2	4	2	1	4	1	0	1	4	2	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:42076365C>T	ENST00000401959.1	-	3	323	c.7G>A	c.(7-9)Gag>Aag	p.E3K	NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.E3K|NHP2L1_ENST00000402458.1_Missense_Mutation_p.E7K|NHP2L1_ENST00000215956.5_Missense_Mutation_p.E3K	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	3					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						ACATCAGCCTCAGTCTATGGG	0.473													6	62					0	0	0	0	T	42076365	C	T	42076365	3	4	334	1	0	0	0	0	1	0	0	0	10480	835	29	2	387	2	NHP2L1	22	42076365	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	8699725	42076365	9228201	229	61989											
SEPT3	55964	broad.mit.edu	37	chr22	42390716	42390716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgacaatggaggcctccctCcggtgagcgtggacacagag	10	6	14	11	2	0	3	0	2	0	1	2	5	2	5	3	4	1	0	3	4	1	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:42390716C>G	ENST00000396425.3	+	10	1140	c.1009C>G	c.(1009-1011)Ccg>Gcg	p.P337A	SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000291236.11_Missense_Mutation_p.P273A|SEPT3_ENST00000396426.3_Missense_Mutation_p.P337A|SEPT3_ENST00000406029.1_Missense_Mutation_p.P273A	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	337					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						AGGCCTCCCTCCGGTGAGCGT	0.532													24	68					0	0	0	0	G	42390716	C	G	42390716	3	3	334	1	0	0	0	0	1	0	0	0	14152	855	30	2	1047	2	SEPT3	22	42390716	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	314351	42390716	8913850	230	61990											
PRPS2	5634	broad.mit.edu	37	chrX	12837736	12837736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcgacgtgaaggaccGtgtggccatcctcgtggatg	6	8	18	9	4	0	1	0	1	0	0	2	4	1	3	3	5	0	0	3	5	1	0	rs143528874		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:12837736G>T	ENST00000380668.5	+	5	769	c.641G>T	c.(640-642)cGt>cTt	p.R214L	PRPS2_ENST00000398491.2_Missense_Mutation_p.R217L	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	214	Binding of phosphoribosylpyrophosphate (Potential).				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GTGAAGGACCGTGTGGCCATC	0.552													87	104					8.84886e-50	1.04798e-49	1	0	T	12837736	G	T	12837736	3	4	334	1	0	0	0	0	1	0	0	0	12660	1145	40	3	668	3	PRPS2	23	12837736	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08		12837736	142432824	231	61991											
FAM47C	442444	broad.mit.edu	37	chrX	37027331	37027331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggagtgtctcatctctGcccagagcctcccaagactc	8	9	9	15	0	2	2	1	0	2	2	6	4	3	3	3	1	2	0	3	1	1	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:37027331G>T	ENST00000358047.3	+	1	900	c.848G>T	c.(847-849)tGc>tTc	p.C283F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	283										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCATCTCTGCCCAGAGCCT	0.602													49	26					2.56175e-15	2.88674e-15	1	0	T	37027331	G	T	37027331	3	4	334	1	0	0	0	0	1	0	0	0	5618	1319	46	4	850	4	FAM47C	23	37027331	Missense_Mutation	SNP	G	TCGA-CV-A45U-01A-12D-A24D-08	24189595	37027331	118243229	232	61992											
USP9X	8239	broad.mit.edu	37	chrX	40994016	40994016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatgtcagcgatttttcCgtgatgggctaacaatatca	12	12	9	8	2	2	1	2	1	0	0	3	2	3	1	1	1	3	2	1	1	4	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:40994016C>T	ENST00000324545.7	+	5	994	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	USP9X_ENST00000378308.2_Missense_Mutation_p.R121C	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	121					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCGATTTTTCCGTGATGGGCT	0.353													8	29					0	0	0	0	T	40994016	C	T	40994016	3	4	334	1	0	0	0	0	1	0	0	0	17186	652	23	1	375	1	USP9X	23	40994016	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	3966685	40994016	114276544	233	61993											
GRIA3	2892	broad.mit.edu	37	chrX	122599621	122599621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaaaggagagtgcggcagCgggggcggtgactccaaggt	10	4	19	8	3	0	2	0	1	0	1	1	4	1	2	1	6	2	1	1	6	2	0			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:122599621C>T	ENST00000264357.5	+	14	2713	c.2421C>T	c.(2419-2421)agC>agT	p.S807S	GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000371251.1_Silent_p.S807S|GRIA3_ENST00000542149.1_Silent_p.S807S	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	807					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGTGCGGCAGCGGGGGCGGTG	0.478													4	42					0	0	0	0	T	122599621	C	T	122599621	2	4	334	1	0	0	0	0	0	0	0	1	6819	767	27	1		1	GRIA3	23	122599621	Silent	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	81605605	122599621	32670939	234	61994											
SPANXN2	494119	broad.mit.edu	37	chrX	142795431	142795431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggccttcgtcctcctcctCttggacgggattgatggagt	5	13	12	11	2	1	1	0	1	1	0	5	4	4	4	4	4	0	0	4	4	1	4			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:142795431C>T	ENST00000370498.1	-	2	1000	c.247G>A	c.(247-249)Gag>Aag	p.E83K		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	83										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCTCCTCTTGGACGGGA	0.468													21	144					0	0	0	0	T	142795431	C	T	142795431	3	4	334	1	0	0	0	0	1	0	0	0	15081	922	32	2	299	2	SPANXN2	23	142795431	Missense_Mutation	SNP	C	TCGA-CV-A45U-01A-12D-A24D-08	20195810	142795431	12475129	235	61995											
TARDBP	23435	broad.mit.edu	37	chr1	11082205	11082205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcagtctctttgtggagagGacttgatcattaaaggaatc	11	12	11	7	1	2	2	1	1	1	1	4	5	2	4	0	3	0	1	0	3	3	3			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:11082205G>A	ENST00000240185.3	+	6	853	c.739G>A	c.(739-741)Gac>Aac	p.D247N	TARDBP_ENST00000315091.3_Missense_Mutation_p.D247N|TARDBP_ENST00000439080.2_Missense_Mutation_p.D131N	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	247	RRM 2.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		TTGTGGAGAGGACTTGATCAT	0.353													8	49					0	0	0	0	A	11082205	G	A	11082205	3	1	335	1	0	0	0	0	1	0	0	0	15648	1174	41	2	757	2	TARDBP	1	11082205	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08		11082205	238168416	1	61996											
PTCHD2	57540	broad.mit.edu	37	chr1	11561057	11561057	+	Missense_Mutation	SNP	C	C	A																															tctcctgcagactatggacaCggaggatgaccccttgctgc																										TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:11561057C>A	ENST00000294484.6	+	2	146	c.8C>A	c.(7-9)aCg>aAg	p.T3K	PTCHD2_ENST00000389575.3_Missense_Mutation_p.T3K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	3					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACTATGGACACGGAGGATGAC	0.607													8	37					0.307466	0.307466	1	0	A	11561057	C	A	11561057	3	1	335	1	0	0	0	0	1	0	0	0	12812	536	19	3	10	3	PTCHD2	1	11561057	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	478852	11561057	237689564	2	61997	741	2									
PTCHD2	57540	broad.mit.edu	37	chr1	11561058	11561058	+	Silent	SNP	G	G	T																															ctcctgcagactatggacacGgaggatgaccccttgctgca																										TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:11561058G>T	ENST00000294484.6	+	2	147	c.9G>T	c.(7-9)acG>acT	p.T3T	PTCHD2_ENST00000389575.3_Silent_p.T3T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	3					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTATGGACACGGAGGATGACC	0.607													8	37					5.68852e-11	6.05422e-11	1	0	T	11561058	G	T	11561058	2	4	335	1	0	0	0	0	0	0	0	1	12812	1103	39	3		3	PTCHD2	1	11561058	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	1	11561058	237689563	3	61998	741	2									
ACTL8	81569	broad.mit.edu	37	chr1	18152775	18152775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcctgcgagatctccctgCgccccctgctggtctcccac	4	9	9	19	2	2	1	0	0	2	1	5	2	3	1	5	1	3	1	5	1	0	0			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:18152775C>T	ENST00000375406.1	+	3	1078	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	288						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GATCTCCCTGCGCCCCCTGCT	0.642											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	53					0	0	0	0	T	18152775	C	T	18152775	3	4	335	1	0	0	0	0	1	0	0	0	202	768	27	1	868	1	ACTL8	1	18152775	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	6591717	18152775	231097846	4	61999											
KIAA1522	57648	broad.mit.edu	37	chr1	33233462	33233462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggtctgcagtggatgagCaccaggacaacgtcttcttt	9	10	12	10	1	3	1	0	1	3	0	3	3	3	3	1	3	3	2	1	3	1	2			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:33233462C>T	ENST00000401073.2	+	2	380	c.310C>T	c.(310-312)Cac>Tac	p.H104Y	KIAA1522_ENST00000373480.1_Missense_Mutation_p.H45Y|KIAA1522_ENST00000373481.3_Missense_Mutation_p.H56Y|KIAA1522_ENST00000294521.3_Missense_Mutation_p.H45Y	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	45										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGTGGATGAGCACCAGGACAA	0.597													16	76					0	0	0	0	T	33233462	C	T	33233462	3	4	335	1	0	0	0	0	1	0	0	0	8289	710	25	4	316	4	KIAA1522	1	33233462	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	15080687	33233462	216017159	5	62000											
EPHA10	284656	broad.mit.edu	37	chr1	38227318	38227318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgtagtagacgcgcacCgagacaagcgccacgcatgc	10	6	12	13	5	0	2	0	0	0	2	0	3	0	2	2	0	3	5	2	0	3	3			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:38227318C>T	ENST00000373048.4	-	3	608	c.609G>A	c.(607-609)tcG>tcA	p.S203S	EPHA10_ENST00000319637.6_Silent_p.S203S|EPHA10_ENST00000427468.2_Silent_p.S203S	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	203						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)				AGACGCGCACCGAGACAAGCG	0.667													8	36					0	0	0	0	T	38227318	C	T	38227318	2	4	335	1	0	0	0	0	0	0	0	1	5204	639	23	1		1	EPHA10	1	38227318	Silent	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	4993856	38227318	211023303	6	62001											
AK5	26289	broad.mit.edu	37	chr1	78001608	78001608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgccttctccaaaggagccGgagcagcctgcctgtggacg	7	6	13	15	3	1	0	0	0	1	0	2	3	1	3	6	3	4	1	6	3	1	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:78001608G>A	ENST00000344720.5	+	13	2453	c.1427G>A	c.(1426-1428)cGg>cAg	p.R476Q	AK5_ENST00000478255.1_Missense_Mutation_p.R17Q|AK5_ENST00000354567.2_Missense_Mutation_p.R502Q	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	502					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CAAAGGAGCCGGAGCAGCCTG	0.577													12	24					0	0	0	0	A	78001608	G	A	78001608	3	1	335	1	0	0	0	0	1	0	0	0	443	1116	39	1	1555	1	AK5	1	78001608	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	39774290	78001608	171249013	7	62002											
SLC6A17	388662	broad.mit.edu	37	chr1	110740903	110740903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagaacgatgagacccGcttcatcctcagcaaggtgc	11	6	13	11	2	2	2	2	1	0	2	3	6	3	3	2	3	3	2	2	3	2	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:110740903G>A	ENST00000331565.4	+	12	2506	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	674					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GATGAGACCCGCTTCATCCTC	0.602													15	55					0	0	0	0	A	110740903	G	A	110740903	3	1	335	1	0	0	0	0	1	0	0	0	14768	1087	38	1	2063	1	SLC6A17	1	110740903	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	32739295	110740903	138509718	8	62003											
FLG	2312	broad.mit.edu	37	chr1	152276430	152276430	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcagatgaagcttgtccGtgcccaatgcctgagtgtct	8	11	11	11	1	1	3	0	2	1	1	2	3	2	3	3	0	4	2	3	0	2	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:152276430G>A	ENST00000368799.1	-	3	10967	c.10932C>T	c.(10930-10932)caC>caT	p.H3644H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3644	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGCTTGTCCGTGCCCAATGC	0.547									Ichthyosis				88	299					0	0	0	0	A	152276430	G	A	152276430	2	1	335	1	0	0	0	0	0	0	0	1	5967	1136	40	1		1	FLG	1	152276430	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	41535527	152276430	96974191	9	62004											
FLG	2312	broad.mit.edu	37	chr1	152286682	152286682	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatatggcctgattgtatcCatttttgagtcattcttcct	8	18	6	9	0	2	2	1	2	1	0	4	2	4	2	3	1	0	1	3	1	3	7			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:152286682C>T	ENST00000368799.1	-	3	715	c.680G>A	c.(679-681)tGg>tAg	p.W227*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	227					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATTGTATCCATTTTTGAGT	0.348									Ichthyosis				19	87					0	0	0	0	T	152286682	C	T	152286682	4	4	335	1	0	0	0	0	0	1	0	0	5967	595	21	4	11509	4	FLG	1	152286682	Nonsense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	10252	152286682	96963939	10	62005											
HLX	3142	broad.mit.edu	37	chr1	221054616	221054616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcggccggccagttcttcGcatctctagatcccattaac	7	11	7	16	3	2	1	0	0	2	1	6	1	3	1	4	2	1	2	4	2	2	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:221054616G>A	ENST00000366903.6	+	2	2174	c.673G>A	c.(673-675)Gca>Aca	p.A225T	HLX_ENST00000549319.1_5'UTR	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	225					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A225T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CCAGTTCTTCGCATCTCTAGA	0.567													23	73					0	0	0	0	A	221054616	G	A	221054616	3	1	335	1	0	0	0	0	1	0	0	0	7266	1087	38	1	679	1	HLX	1	221054616	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	68767934	221054616	28196005	11	62006											
ABHD1	84696	broad.mit.edu	37	chr2	27352634	27352634	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccacaggatactggtgctGaatcacctggcacaggccag	10	8	11	12	0	1	1	1	1	0	0	2	2	2	2	3	4	2	2	3	4	2	2	rs146000122	byFrequency	TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:27352634G>C	ENST00000316470.4	+	6	744	c.630G>C	c.(628-630)ctG>ctC	p.L210L		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	210						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTGGTGCTGAATCACCTGG	0.547													13	51					0	0	0	0	C	27352634	G	C	27352634	2	2	335	1	0	0	0	0	0	0	0	1	73	1277	45	2		2	ABHD1	2	27352634	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08		27352634	215846739	12	62007											
DNAJC5G	285126	broad.mit.edu	37	chr2	27500827	27500827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggaatatatctgtatgatCactttggtgaagaaggcgtc	11	13	12	5	1	2	3	1	2	1	1	3	4	2	4	0	3	0	1	0	3	6	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:27500827C>T	ENST00000296097.3	+	4	737	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.H91Y|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.H107Y	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	107					protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGTATGATCACTTTGGTGA	0.398													5	76					0	0	0	0	T	27500827	C	T	27500827	3	4	335	1	0	0	0	0	1	0	0	0	4688	826	29	2	325	2	DNAJC5G	2	27500827	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	148193	27500827	215698546	13	62008											
EHD3	30845	broad.mit.edu	37	chr2	31484543	31484543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgagcgggagcaccagatCtcacctggggacttccccaa	10	6	11	14	2	1	1	1	0	1	1	4	4	2	3	4	3	2	1	4	3	1	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:31484543C>T	ENST00000322054.5	+	5	1329	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	348					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AGCACCAGATCTCACCTGGGG	0.587													17	91					0	0	0	0	T	31484543	C	T	31484543	2	4	335	1	0	0	0	0	0	0	0	1	5015	903	32	2		2	EHD3	2	31484543	Silent	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	3983716	31484543	211714830	14	62009											
IL18RAP	8807	broad.mit.edu	37	chr2	103063602	103063602	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcggcgagtgccctcctctAcaggcactggattgaaatag	9	8	13	11	2	1	1	0	1	1	0	2	3	2	2	2	4	2	1	2	4	3	3			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:103063602A>G	ENST00000264260.2	+	10	1734	c.1145A>G	c.(1144-1146)tAc>tGc	p.Y382C	IL18RAP_ENST00000409369.1_Missense_Mutation_p.Y240C	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	382					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GCCCTCCTCTACAGGCACTGG	0.572													38	116					0	0	0	0	G	103063602	A	G	103063602	3	3	335	1	0	0	0	0	1	0	0	0	7701	391	14	5	1175	5	IL18RAP	2	103063602	Missense_Mutation	SNP	A	TCGA-CV-A45V-01A-21D-A25D-08	71579059	103063602	140135771	15	62010											
MYO7B	4648	broad.mit.edu	37	chr2	128354096	128354096	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctagacagagcggcgctCagcatccagaaagtccttcg	10	7	12	12	3	1	3	1	0	0	3	4	3	3	3	2	1	3	3	2	1	2	2			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:128354096C>G	ENST00000389524.4	+	19	2357	c.2304C>G	c.(2302-2304)ctC>ctG	p.L768L	MYO7B_ENST00000428314.1_Silent_p.L768L|MYO7B_ENST00000409816.2_Silent_p.L768L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	768	IQ 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAGCGGCGCTCAGCATCCAGA	0.627													3	19					0	0	0	0	G	128354096	C	G	128354096	2	3	335	1	0	0	0	0	0	0	0	1	10153	813	29	2		2	MYO7B	2	128354096	Silent	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	25290494	128354096	114845277	16	62011											
RAPGEF4	11069	broad.mit.edu	37	chr2	173853508	173853508	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcctctatcgtcttaCgagaagataactgccatttc	10	12	8	11	2	2	2	0	0	2	2	4	4	2	2	2	0	5	1	2	0	4	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:173853508C>G	ENST00000264111.6	+	14	1499	c.1312C>G	c.(1312-1314)Cga>Gga	p.R438G	RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R268G|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R286G|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.R219G|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R286G|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R439G|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R295G|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.R439G			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	439					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TATCGTCTTACGAGAAGATAA	0.488													12	48					0	0	0	0	G	173853508	C	G	173853508	3	3	335	1	0	0	0	0	1	0	0	0	13128	528	19	3	1385	3	RAPGEF4	2	173853508	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	45499412	173853508	69345865	17	62012											
CASP8	841	broad.mit.edu	37	chr2	202149646	202149646	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctaccaactcatggacCacagtaacatggactgcttc	14	9	6	12	0	2	0	1	0	1	0	3	2	2	2	2	2	4	2	2	2	4	3			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:202149646C>G	ENST00000358485.4	+	8	1283	c.1087C>G	c.(1087-1089)Cac>Gac	p.H363D	CASP8_ENST00000264274.9_Missense_Mutation_p.H220D|CASP8_ENST00000264275.5_Missense_Mutation_p.H321D|CASP8_ENST00000323492.7_Missense_Mutation_p.H289D|CASP8_ENST00000432109.2_Missense_Mutation_p.H304D|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	304					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACTCATGGACCACAGTAACAT	0.478										HNSCC(4;0.00038)			21	96					0	0	0	0	G	202149646	C	G	202149646	3	3	335	1	0	0	0	0	1	0	0	0	2702	594	21	4	1217	4	CASP8	2	202149646	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	28296138	202149646	41049727	18	62013											
CASP8	841	broad.mit.edu	37	chr2	202149977	202149978	+	Frame_Shift_Del	DEL	AC	AC	-																															taactgtgtttcctaccgaaAccctgcagagggaacctggt																										TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:202149977_202149978delAC	ENST00000358485.4	+	8	1614_1615	c.1418_1419delAC	c.(1417-1419)afs	p.N473fs	CASP8_ENST00000264274.9_Frame_Shift_Del_p.N330fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.N431fs|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Frame_Shift_Del_p.N399fs|CASP8_ENST00000432109.2_Frame_Shift_Del_p.N414fs|CASP8_ENST00000392266.3_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	414					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCCTACCGAAACCCTGCAGAGG	0.49										HNSCC(4;0.00038)			11	46	---	---	---	---					-	202149978	AC	-	202149977	7	5	335	1	0	1	0	1	0	0	0	0	2702	43	2	0	1548	0	CASP8	2	202149977	Frame_Shift_Del	DEL	AC	TCGA-CV-A45V-01A-21D-A25D-08	331	202149977	41049396	19	62014											
SP140L	93349	broad.mit.edu	37	chr2	231264899	231264899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggggagctgttctgttgcGacacttgttcaagagtcttc	7	13	13	8	1	3	1	1	0	2	1	4	4	3	2	0	2	2	4	0	2	1	5			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:231264899G>A	ENST00000243810.6	+	15	1255	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N	SP140L_ENST00000396563.4_Missense_Mutation_p.D384N|SP140L_ENST00000444636.1_Missense_Mutation_p.D419N|SP140L_ENST00000415673.2_Missense_Mutation_p.D419N			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	419						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GTTCTGTTGCGACACTTGTTC	0.498													17	49					0	0	0	0	A	231264899	G	A	231264899	3	1	335	1	0	0	0	0	1	0	0	0	15051	1058	37	1	1313	1	SP140L	2	231264899	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	29114922	231264899	11934474	20	62015											
ITM2C	81618	broad.mit.edu	37	chr2	231740463	231740463	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaactacgagcgcatcaaCgtgcctgtgccccagtttgg	9	8	12	12	3	1	1	1	0	0	1	1	3	1	1	3	1	6	2	3	1	3	2			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:231740463C>T	ENST00000326427.6	+	3	516	c.390C>T	c.(388-390)aaC>aaT	p.N130N	ITM2C_ENST00000326407.6_Silent_p.N130N|ITM2C_ENST00000335005.6_Silent_p.N83N|ITM2C_ENST00000409704.2_Silent_p.N68N|ITM2C_ENST00000492029.1_3'UTR	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	130					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGCGCATCAACGTGCCTGTGC	0.617													23	93					0	0	0	0	T	231740463	C	T	231740463	2	4	335	1	0	0	0	0	0	0	0	1	7967	535	19	1		1	ITM2C	2	231740463	Silent	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	475564	231740463	11458910	21	62016											
UGT1A6	54578	broad.mit.edu	37	chr2	234681074	234681074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtaccattccttggacGtgattggtttcctcttggcc	6	14	9	12	1	1	1	0	1	1	0	3	2	3	2	5	3	1	2	5	3	1	6			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:234681074G>A	ENST00000305139.6	+	5	1607	c.1468G>A	c.(1468-1470)Gtg>Atg	p.V490M	UGT1A6_ENST00000373424.1_Missense_Mutation_p.V223M|UGT1A7_ENST00000373426.3_Missense_Mutation_p.V488M|UGT1A8_ENST00000373450.4_Missense_Mutation_p.V488M|UGT1A9_ENST00000354728.4_Missense_Mutation_p.V488M|UGT1A10_ENST00000344644.5_Missense_Mutation_p.V488M|UGT1A3_ENST00000482026.1_Missense_Mutation_p.V492M|UGT1A4_ENST00000373409.3_Missense_Mutation_p.V492M|UGT1A5_ENST00000373414.3_Missense_Mutation_p.V492M|UGT1A1_ENST00000305208.5_Missense_Mutation_p.V491M	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TTCCTTGGACGTGATTGGTTT	0.567													29	78					0	0	0	0	A	234681074	G	A	234681074	3	1	335	1	0	0	0	0	1	0	0	0	17045	1145	40	1	1486	1	UGT1A6	2	234681074	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	2940611	234681074	8518299	22	62017											
XIRP1	165904	broad.mit.edu	37	chr3	39229311	39229311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaacgtccccagccacCacttcctgccgggtgatgcc	6	7	10	18	2	0	1	0	1	0	0	2	1	2	1	8	1	5	0	8	1	1	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:39229311C>T	ENST00000340369.3	-	2	1854	c.1626G>A	c.(1624-1626)gtG>gtA	p.V542V	XIRP1_ENST00000396251.1_Silent_p.V542V|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	542	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCCAGCCACCACTTCCTGCC	0.612													13	76					0	0	0	0	T	39229311	C	T	39229311	2	4	335	1	0	0	0	0	0	0	0	1	17525	581	21	4		4	XIRP1	3	39229311	Silent	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08		39229311	158793119	23	62018											
KIF15	56992	broad.mit.edu	37	chr3	44893329	44893329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagagatggaatgccttaGaatgactgatgaagtcgaac	16	8	11	6	1	0	5	0	3	0	2	1	8	0	6	1	1	2	0	1	1	6	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:44893329G>A	ENST00000326047.4	+	33	4006	c.3857G>A	c.(3856-3858)aGa>aAa	p.R1286K	KIF15_ENST00000425755.1_Missense_Mutation_p.R921K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1286					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAATGCCTTAGAATGACTGAT	0.363													23	69					0	0	0	0	A	44893329	G	A	44893329	3	1	335	1	0	0	0	0	1	0	0	0	8328	942	33	2	3987	2	KIF15	3	44893329	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	5664018	44893329	153129101	24	62019											
PDZRN3	23024	broad.mit.edu	37	chr3	73432536	73432536	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatacagtagtcaccgataGgaaggaattgtatactctag	14	12	9	6	1	2	0	1	0	1	0	2	3	2	2	1	2	2	2	1	2	9	8			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:73432536G>A	ENST00000263666.4	-	10	3295	c.3181C>T	c.(3181-3183)Cta>Tta	p.L1061L	PDZRN3_ENST00000535920.1_Silent_p.L783L|PDZRN3_ENST00000479530.1_Silent_p.L778L|PDZRN3_ENST00000462146.2_Silent_p.L718L|PDZRN3_ENST00000466780.1_Silent_p.L718L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1061							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTCACCGATAGGAAGGAATTG	0.433													23	83					0	0	0	0	A	73432536	G	A	73432536	2	1	335	1	0	0	0	0	0	0	0	1	11780	991	35	4		4	PDZRN3	3	73432536	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	28539207	73432536	124589894	25	62020											
ABTB1	80325	broad.mit.edu	37	chr3	127399121	127399121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgctcatagctggtggagCgggaggacttcgtggaggcg	6	7	18	10	4	1	0	1	0	0	0	2	4	1	4	1	6	2	2	1	6	1	2			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:127399121C>T	ENST00000468137.1	+	11	1430	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	ABTB1_ENST00000453791.2_Missense_Mutation_p.R272W|ABTB1_ENST00000393363.3_Missense_Mutation_p.R272W|ABTB1_ENST00000232744.8_Missense_Mutation_p.R414W			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	414	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GCTGGTGGAGCGGGAGGACTT	0.662													13	32					0	0	0	0	T	127399121	C	T	127399121	3	4	335	1	0	0	0	0	1	0	0	0	102	759	27	1	1286	1	ABTB1	3	127399121	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	53966585	127399121	70623309	26	62021											
DNAJB8	165721	broad.mit.edu	37	chr3	128181846	128181846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaggggctgtggtagggCgtgctggccccgccaccagc	5	6	17	13	3	0	0	0	0	0	0	1	1	0	0	4	5	2	3	4	5	2	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:128181846C>T	ENST00000469083.1	-	2	2800	c.243G>A	c.(241-243)acG>acA	p.T81T	DNAJB8_ENST00000319153.3_Silent_p.T81T			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	81					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGTGGTAGGGCGTGCTGGCCC	0.592													28	77					0	0	0	0	T	128181846	C	T	128181846	2	4	335	1	0	0	0	0	0	0	0	1	4662	755	27	1		1	DNAJB8	3	128181846	Silent	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	782725	128181846	69840584	27	62022											
NEK11	79858	broad.mit.edu	37	chr3	130889682	130889682	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccttccatggacctccaCgaacttgaatcaattgtaga	12	12	6	11	1	1	2	1	1	0	1	4	4	4	3	4	1	1	1	4	1	4	5			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:130889682C>T	ENST00000383366.4	+	14	1643	c.1350C>T	c.(1348-1350)caC>caT	p.H450H	NEK11_ENST00000412440.2_Silent_p.H266H|NEK11_ENST00000510769.1_Silent_p.H345H|NEK11_ENST00000507910.1_Silent_p.H450H|NEK11_ENST00000511262.1_Silent_p.H450H|NEK11_ENST00000429253.2_Silent_p.H450H|NEK11_ENST00000508196.1_Silent_p.H450H|NEK11_ENST00000356918.4_Silent_p.H450H|NEK11_ENST00000510688.1_Silent_p.H450H	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	450					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TGGACCTCCACGAACTTGAAT	0.443													20	79					0	0	0	0	T	130889682	C	T	130889682	2	4	335	1	0	0	0	0	0	0	0	1	10393	535	19	1		1	NEK11	3	130889682	Silent	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	2707836	130889682	67132748	28	62023											
TNFSF10	8743	broad.mit.edu	37	chr3	172232786	172232786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttggagtacttgtcctgCatctgggttgagatggaata	8	15	12	6	0	1	1	0	1	1	1	2	4	2	3	1	3	2	3	1	3	3	6			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:172232786C>T	ENST00000241261.2	-	2	257	c.135G>A	c.(133-135)atG>atA	p.M45I	TNFSF10_ENST00000420541.2_Missense_Mutation_p.M45I	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	45					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACTTGTCCTGCATCTGGGTTG	0.383													20	84					0	0	0	0	T	172232786	C	T	172232786	3	4	335	1	0	0	0	0	1	0	0	0	16395	710	25	4	726	4	TNFSF10	3	172232786	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	41343104	172232786	25789644	29	62024											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			11	32					0	0	0	0	A	178936082	G	A	178936082	3	1	335	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	6703296	178936082	19086348	30	62025											
BCL6	604	broad.mit.edu	37	chr3	187449600	187449600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctcccgcaaattgagccGagatgtgtacatgaagtcca	11	8	10	12	2	0	3	0	2	0	1	2	4	2	3	4	0	2	2	4	0	3	2			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:187449600G>A	ENST00000406870.2	-	4	646	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	BCL6_ENST00000232014.4_Missense_Mutation_p.R94W|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R94W|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	94	BTB.				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AAATTGAGCCGAGATGTGTAC	0.488			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								16	42					0	0	0	0	A	187449600	G	A	187449600	3	1	335	1	0	0	0	0	1	0	0	0	1380	1057	37	1	1868	1	BCL6	3	187449600	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	8513518	187449600	10572830	31	62026											
YIPF7	285525	broad.mit.edu	37	chr4	44638054	44638054	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taacccgatgacatgagcatCtctgatggaacaaaggaggc	14	7	11	9	1	1	3	0	3	1	0	2	6	1	5	1	3	3	1	1	3	3	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:44638054C>T	ENST00000332990.5	-	3	253	c.237G>A	c.(235-237)gaG>gaA	p.E79E		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	79						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ACATGAGCATCTCTGATGGAA	0.398													8	32					0	0	0	0	T	44638054	C	T	44638054	2	4	335	1	0	0	0	0	0	0	0	1	17579	912	32	2		2	YIPF7	4	44638054	Silent	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08		44638054	146516222	32	62027											
EPHA5	2044	broad.mit.edu	37	chr4	66356240	66356240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaggtgtttttcaggccGctttgccggggaaggtacct	7	11	14	9	2	1	1	1	0	0	1	1	2	1	2	3	5	2	3	3	5	2	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:66356240G>A	ENST00000273854.3	-	5	1857	c.1257C>T	c.(1255-1257)agC>agT	p.S419S	EPHA5_ENST00000511294.1_Silent_p.S419S|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Silent_p.S419S	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	419	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTTCAGGCCGCTTTGCCGGG	0.502										TSP Lung(17;0.13)			7	50					0	0	0	0	A	66356240	G	A	66356240	2	1	335	1	0	0	0	0	0	0	0	1	5208	1078	38	1		1	EPHA5	4	66356240	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	21718186	66356240	124798036	33	62028											
FBXW7	55294	broad.mit.edu	37	chr4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcatattgaacacagcGgactgctgcaacatgaccca	13	7	8	13	1	1	2	1	2	0	0	1	3	1	3	2	1	5	2	2	1	3	2	rs149680468		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								14	84					0	0	0	0	C	153247289	G	C	153247289	3	2	335	1	0	0	0	0	1	0	0	0	5814	1116	39	3	622	3	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	86891049	153247289	37906987	34	62029											
MND1	84057	broad.mit.edu	37	chr4	154271221	154271221	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttttttgctttagtcaaaGaaaaaaggactgagtgcaga	15	13	9	4	0	1	3	1	1	0	2	1	4	1	4	0	1	2	2	0	1	5	5			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:154271221G>C	ENST00000240488.3	+	2	98	c.9G>C	c.(7-9)aaG>aaC	p.K3N	MND1_ENST00000504860.1_5'UTR|MND1_ENST00000503967.1_3'UTR	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	3					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TTTAGTCAAAGAAAAAAGGAC	0.279													34	31					0	0	0	0	C	154271221	G	C	154271221	3	2	335	1	0	0	0	0	1	0	0	0	9745	933	33	2	15	2	MND1	4	154271221	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	1023932	154271221	36883055	35	62030											
FSTL5	56884	broad.mit.edu	37	chr4	162680600	162680600	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaagagccaggtgcttGtcagcattaaaatcatcata	13	12	7	9	0	5	1	4	0	1	1	5	1	5	1	1	1	3	2	1	1	4	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:162680600G>A	ENST00000306100.5	-	6	1126	c.690C>T	c.(688-690)gaC>gaT	p.D230D	FSTL5_ENST00000379164.4_Silent_p.D229D|FSTL5_ENST00000536695.1_Silent_p.D229D|FSTL5_ENST00000427802.2_Silent_p.D229D	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	230	EF-hand 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCAGGTGCTTGTCAGCATTAA	0.333													24	24					0	0	0	0	A	162680600	G	A	162680600	2	1	335	1	0	0	0	0	0	0	0	1	6128	1368	48	4		4	FSTL5	4	162680600	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	8409379	162680600	28473676	36	62031											
FAT1	2195	broad.mit.edu	37	chr4	187518286	187518286	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcacagagggccccgtgcagGcaagggtttccagagcactc	9	6	13	13	1	1	2	1	0	0	2	3	2	2	2	3	3	2	4	3	3	1	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:187518286G>C	ENST00000441802.2	-	25	12617	c.12408C>G	c.(12406-12408)tgC>tgG	p.C4136W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4136	EGF-like 5; calcium-binding (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCCCGTGCAGGCAAGGGTTTC	0.582										HNSCC(5;0.00058)			11	9					0	0	0	0	C	187518286	G	C	187518286	3	2	335	1	0	0	0	0	1	0	0	0	5734	1195	42	4	1370	4	FAT1	4	187518286	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	24837686	187518286	3635990	37	62032											
PCDHB6	56130	broad.mit.edu	37	chr5	140532066	140532066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgagcggcaccgggacccTatcccagagctaccagtaca	10	6	11	14	2	0	2	0	1	0	1	1	3	1	3	4	2	4	3	4	2	3	3			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr5:140532066T>C	ENST00000231136.1	+	1	2228	c.2228T>C	c.(2227-2229)cTa>cCa	p.L743P	PCDHB6_ENST00000543635.1_Missense_Mutation_p.L607P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		743					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGGGACCCTATCCCAGAGC	0.612													68	95					0	0	0	0	C	140532066	T	C	140532066	3	2	335	1	0	0	0	0	1	0	0	0	11617	1522	53	5	2230	5	PCDHB6	5	140532066	Missense_Mutation	SNP	T	TCGA-CV-A45V-01A-21D-A25D-08		140532066	40383194	38	62033											
FGFR4	2264	broad.mit.edu	37	chr5	176516626	176516627	+	Frame_Shift_Ins	INS	-	-	G																															cggctgctgctggccctgttINSgggggtcctgctgagtgtgc																										TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr5:176516626_176516627insG	ENST00000292408.4	+	2	268_269	c.23_24insG	c.(22-24)tggfs	p.W8fs	FGFR4_ENST00000502906.1_Frame_Shift_Ins_p.W8fs|FGFR4_ENST00000507708.1_3'UTR|FGFR4_ENST00000393648.2_Frame_Shift_Ins_p.W8fs|FGFR4_ENST00000393637.1_Frame_Shift_Ins_p.W8fs|FGFR4_ENST00000292410.3_Frame_Shift_Ins_p.W8fs	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	8					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CTGGCCCTGTTGGGGGTCCTGC	0.604										TSP Lung(9;0.080)			9	18	---	---	---	---					G	176516627	-	G	176516626	7	5	335	1	0	1	1	0	0	0	0	0	5913	1821	63	0	25	0	FGFR4	5	176516626	Frame_Shift_Ins	INS	-	TCGA-CV-A45V-01A-21D-A25D-08	35984560	176516626	4398634	39	62034											
RASGEF1C	255426	broad.mit.edu	37	chr5	179563430	179563430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttaaggtgcccgatagtcGactcttcctggaagtccctt	7	12	9	13	2	1	0	0	0	1	0	4	3	3	1	4	2	1	0	4	2	3	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr5:179563430G>A	ENST00000393371.2	-	3	682	c.386C>T	c.(385-387)tCg>tTg	p.S129L	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S129L|RASGEF1C_ENST00000522500.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	129	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGATAGTCGACTCTTCCTG	0.677													3	2					0	0	0	0	A	179563430	G	A	179563430	3	1	335	1	0	0	0	0	1	0	0	0	13153	1059	37	1	1058	1	RASGEF1C	5	179563430	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	3046804	179563430	1351830	40	62035											
OR2B6	26212	broad.mit.edu	37	chr6	27925589	27925589	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctcaagttatcttgtgttGagacaacagcaaatgaggct	12	12	10	7	0	2	2	1	2	1	1	2	3	2	2	0	1	3	5	0	1	4	3			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:27925589G>C	ENST00000244623.1	+	1	571	c.571G>C	c.(571-573)Gag>Cag	p.E191Q		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCTTGTGTTGAGACAACAGC	0.458													38	117					0	0	0	0	C	27925589	G	C	27925589	3	2	335	1	0	0	0	0	1	0	0	0	11062	1291	45	2	573	2	OR2B6	6	27925589	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08		27925589	143189478	41	62036											
LRFN2	57497	broad.mit.edu	37	chr6	40400811	40400811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcgtcgaccacggcaaaCgccatgccaaacgctagcag	12	3	11	15	5	0	0	0	0	0	0	1	1	0	0	3	2	4	3	3	2	3	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:40400811C>T	ENST00000338305.6	-	2	584	c.42G>A	c.(40-42)gcG>gcA	p.A14A		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	14						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCACGGCAAACGCCATGCCAA	0.597													9	46					0	0	0	0	T	40400811	C	T	40400811	2	4	335	1	0	0	0	0	0	0	0	1	9002	523	19	1		1	LRFN2	6	40400811	Silent	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	12475222	40400811	130714256	42	62037											
DST	667	broad.mit.edu	37	chr6	56495047	56495047	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagtgagtctcatacctttAaagtacttattagattctca	14	15	5	7	0	2	2	2	1	2	1	4	2	2	2	1	0	2	1	1	0	7	7			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:56495047A>C	ENST00000370754.5	-	30	4177	c.4178T>G	c.(4177-4179)tTa>tGa	p.L1393*	DST_ENST00000244364.6_Nonsense_Mutation_p.L889*|DST_ENST00000446842.2_Nonsense_Mutation_p.L889*|DST_ENST00000370788.2_Nonsense_Mutation_p.L1215*|DST_ENST00000518935.1_Nonsense_Mutation_p.L889*|DST_ENST00000312431.6_Nonsense_Mutation_p.L1215*|DST_ENST00000421834.2_Nonsense_Mutation_p.L1215*|DST_ENST00000370765.6_Nonsense_Mutation_p.L889*|DST_ENST00000370769.4_Nonsense_Mutation_p.L1215*|DST_ENST00000361203.3_Nonsense_Mutation_p.L1215*			Q03001	DYST_HUMAN	dystonin	1215					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATACCTTTAAAGTACTTAT	0.318													16	61					0	0	0	0	C	56495047	A	C	56495047	4	2	335	1	0	0	0	0	0	1	0	0	4819	372	13	5	17761	5	DST	6	56495047	Nonsense_Mutation	SNP	A	TCGA-CV-A45V-01A-21D-A25D-08	16094236	56495047	114620020	43	62038											
FAM135A	57579	broad.mit.edu	37	chr6	71186939	71186939	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcccccatagaggccttcAtcatcatgttaatgttatgt	10	14	7	10	0	3	1	3	0	0	1	3	1	3	1	3	1	1	2	3	1	4	5			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:71186939A>C	ENST00000418814.2	+	8	1060	c.446A>C	c.(445-447)cAt>cCt	p.H149P	FAM135A_ENST00000361499.3_Missense_Mutation_p.H149P|FAM135A_ENST00000505868.1_Missense_Mutation_p.H149P|FAM135A_ENST00000370479.3_Missense_Mutation_p.H106P|FAM135A_ENST00000505769.1_Missense_Mutation_p.H149P|FAM135A_ENST00000457062.2_Missense_Mutation_p.H106P	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	149										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AGAGGCCTTCATCATCATGTT	0.408													12	42					0	0	0	0	C	71186939	A	C	71186939	3	2	335	1	0	0	0	0	1	0	0	0	5489	217	8	5	464	5	FAM135A	6	71186939	Missense_Mutation	SNP	A	TCGA-CV-A45V-01A-21D-A25D-08	14691892	71186939	99928128	44	62039											
RIMS1	22999	broad.mit.edu	37	chr6	73043310	73043311	+	Frame_Shift_Ins	INS	-	-	C																															ttgtaaatatagttcatttaINScccccaaaatgcaaggcaga																										TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:73043310_73043311insC	ENST00000264839.7	+	25	3685_3686	c.3685_3686insC	c.(3685-3687)cccfs	p.P1229fs	RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000538414.1_Frame_Shift_Ins_p.P186fs|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000401910.3_Frame_Shift_Ins_p.P700fs|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000491071.2_Frame_Shift_Ins_p.P1203fs|RIMS1_ENST00000521978.1_Frame_Shift_Ins_p.P1380fs|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000518273.1_Intron			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1380					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)				TAGTTCATTTACCCCCAAAATG	0.381													4	8	---	---	---	---					C	73043311	-	C	73043310	7	5	335	1	0	1	1	0	0	0	0	0	13452	391	14	0	4415	0	RIMS1	6	73043310	Frame_Shift_Ins	INS	-	TCGA-CV-A45V-01A-21D-A25D-08	1856371	73043310	98071757	45	62040											
RNF217	154214	broad.mit.edu	37	chr6	125283974	125283974	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactggcactcaccgggcCtctcaatccccagaccttgc	7	7	10	17	1	2	1	2	0	1	1	4	2	3	2	5	3	1	1	5	3	1	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:125283974C>G	ENST00000521654.2	+	1	284	c.284C>G	c.(283-285)cCt>cGt	p.P95R	RNF217_ENST00000560949.1_5'UTR|RP11-510H23.1_ENST00000439075.1_RNA			Q8TC41	RN217_HUMAN	ring finger protein 217	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CTCACCGGGCCTCTCAATCCC	0.687													3	21					0	0	0	0	G	125283974	C	G	125283974	3	3	335	1	0	0	0	0	1	0	0	0	13566	696	24	4		4	RNF217	6	125283974	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	52240664	125283974	45831093	46	62041											
STXBP5	134957	broad.mit.edu	37	chr6	147648386	147648386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggagagaaccccgatctcCtcgtaaatctcgacagcctt	10	9	8	14	4	2	1	0	0	2	1	6	5	2	2	4	1	2	1	4	1	3	2			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:147648386C>T	ENST00000367481.3	+	18	2162	c.2054C>T	c.(2053-2055)cCt>cTt	p.P685L	STXBP5_ENST00000321680.6_Missense_Mutation_p.P685L|STXBP5_ENST00000367480.3_Missense_Mutation_p.P685L|STXBP5_ENST00000179882.6_Missense_Mutation_p.P356L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	685					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CCCCGATCTCCTCGTAAATCT	0.398													10	34					0	0	0	0	T	147648386	C	T	147648386	3	4	335	1	0	0	0	0	1	0	0	0	15446	681	24	4	2124	4	STXBP5	6	147648386	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	22364412	147648386	23466681	47	62042											
FAM188B	84182	broad.mit.edu	37	chr7	30831154	30831154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagaggctggaaagagCgttcaaacggcagggcagcc	12	3	16	10	2	1	2	1	0	0	2	1	4	1	3	2	5	3	4	2	5	2	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:30831154C>T	ENST00000265299.6	+	5	1114	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	346										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGGAAAGAGCGTTCAAACGG	0.557													10	40					0	0	0	0	T	30831154	C	T	30831154	3	4	335	1	0	0	0	0	1	0	0	0	5557	768	27	1	1055	1	FAM188B	7	30831154	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08		30831154	128307509	48	62043											
CACNA2D1	781	broad.mit.edu	37	chr7	82072745	82072745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagattggaaaagtgtcaGagtcaaggccagcaggcagc	15	5	13	8	0	2	2	2	0	0	2	2	3	2	3	1	3	2	2	1	3	4	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:82072745G>C	ENST00000356860.3	-	1	369	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.L11V|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.L11V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	11						voltage-gated calcium channel complex	metal ion binding	p.L11V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AAAAGTGTCAGAGTCAAGGCC	0.672													5	20					0	0	0	0	C	82072745	G	C	82072745	3	2	335	1	0	0	0	0	1	0	0	0	2573	933	33	2	3400	2	CACNA2D1	7	82072745	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	51241591	82072745	77065918	49	62044											
LRCH4	4034	broad.mit.edu	37	chr7	100173357	100173357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccatttttcgacaggcttCtagaaaactctccacattct	10	13	4	14	1	3	1	0	0	3	1	5	2	3	1	3	1	1	1	3	1	3	5			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:100173357C>T	ENST00000310300.6	-	17	1877	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	LRCH4_ENST00000497245.1_Missense_Mutation_p.E157K	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	609	CH.				nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGACAGGCTTCTAGAAAACTC	0.562													62	138					0	0	0	0	T	100173357	C	T	100173357	3	4	335	1	0	0	0	0	1	0	0	0	8999	922	32	2	234	2	LRCH4	7	100173357	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	18100612	100173357	58965306	50	62045			1	94		2	2	13	C		4.729072e-05
LRCH4	4034	broad.mit.edu	37	chr7	100173369	100173369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaggcttctagaaaactctCcacattcttccgagccttga	11	11	6	13	1	3	2	0	1	3	1	5	3	4	2	3	1	2	1	3	1	3	5			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:100173369C>T	ENST00000310300.6	-	17	1865	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	LRCH4_ENST00000497245.1_Missense_Mutation_p.E153K	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	605	CH.				nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGAAAACTCTCCACATTCTTC	0.572													62	134					0	0	0	0	T	100173369	C	T	100173369	3	4	335	1	0	0	0	0	1	0	0	0	8999	864	30	2	246	2	LRCH4	7	100173369	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	12	100173369	58965294	51	62046			1	94		2	2	13	C		4.729072e-05
TAS2R16	50833	broad.mit.edu	37	chr7	122635251	122635251	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttgaatgtaattcccAatagctgaagggatgattgt	13	14	10	4	0	0	4	0	4	0	0	1	5	1	5	1	1	1	2	1	1	6	5			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:122635251A>T	ENST00000249284.2	-	1	503	c.438T>A	c.(436-438)atT>atA	p.I146I		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	146					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTAATTCCCAATAGCTGAAG	0.393													11	69					0	0	0	0	T	122635251	A	T	122635251	2	4	335	1	0	0	0	0	0	0	0	1	15660	126	5	5		5	TAS2R16	7	122635251	Silent	SNP	A	TCGA-CV-A45V-01A-21D-A25D-08	22461882	122635251	36503412	52	62047											
CNTNAP2	26047	broad.mit.edu	37	chr7	147600793	147600793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaagtactactgtaactgCgacgcggactacaagcaatg	13	7	9	12	3	0	0	0	0	0	0	0	2	0	1	1	1	6	3	1	1	7	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:147600793C>T	ENST00000361727.3	+	14	2751	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	745	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.C745C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTGTAACTGCGACGCGGACT	0.542										HNSCC(39;0.1)			6	19					0	0	0	0	T	147600793	C	T	147600793	2	4	335	1	0	0	0	0	0	0	0	1	3677	776	27	1		1	CNTNAP2	7	147600793	Silent	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	24965542	147600793	11537870	53	62048											
PDGFRL	5157	broad.mit.edu	37	chr8	17486062	17486062	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacttgaacccggacagacAggctgtggttccttgtcggg	7	10	13	11	2	0	2	0	1	0	1	2	3	1	3	2	4	2	2	2	4	2	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:17486062A>T	ENST00000541323.1	+	5	1017	c.572A>T	c.(571-573)cAg>cTg	p.Q191L	PDGFRL_ENST00000398074.3_Missense_Mutation_p.Q191L|PDGFRL_ENST00000251630.6_Missense_Mutation_p.Q191L	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	191						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CCGGACAGACAGGCTGTGGTT	0.522													14	48					0	0	0	0	T	17486062	A	T	17486062	3	4	335	1	0	0	0	0	1	0	0	0	11734	188	7	5	586	5	PDGFRL	8	17486062	Missense_Mutation	SNP	A	TCGA-CV-A45V-01A-21D-A25D-08		17486062	128877960	54	62049											
CLU	1191	broad.mit.edu	37	chr8	27463875	27463875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtccccttttcacctggCggccaaccaggcctgagcca	6	9	10	16	1	1	1	1	1	0	0	2	1	2	1	7	3	2	0	7	3	1	2			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:27463875C>T	ENST00000316403.10	-	4	818	c.413G>A	c.(412-414)cGc>cAc	p.R138H	CLU_ENST00000546343.1_Missense_Mutation_p.R149H|CLU_ENST00000405140.3_Missense_Mutation_p.R138H|CLU_ENST00000560366.1_Missense_Mutation_p.R190H|CLU_ENST00000523500.1_Missense_Mutation_p.R138H			P10909	CLUS_HUMAN	clusterin	138					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TTTCACCTGGCGGCCAACCAG	0.552													14	49					0	0	0	0	T	27463875	C	T	27463875	3	4	335	1	0	0	0	0	1	0	0	0	3598	768	27	1	960	1	CLU	8	27463875	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	9977813	27463875	118900147	55	62050											
C8orf86	389649	broad.mit.edu	37	chr8	38385908	38385908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagccttggtggaggctctCgccagcggcgtctgcaaatg	6	8	15	12	3	2	0	0	0	2	0	3	1	2	1	2	4	3	3	2	4	1	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:38385908C>T	ENST00000358138.1	-	1	272	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	C8orf86_ENST00000437935.2_Missense_Mutation_p.R83Q	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	83										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TGGAGGCTCTCGCCAGCGGCG	0.577													15	64					0	0	0	0	T	38385908	C	T	38385908	3	4	335	1	0	0	0	0	1	0	0	0	2467	884	31	1	435	1	C8orf86	8	38385908	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	10922033	38385908	107978114	56	62051											
MTDH	92140	broad.mit.edu	37	chr8	98731338	98731338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaatacctctaaaacccGtccaaaacaggaaaaagctt	18	7	6	10	1	1	1	0	1	1	0	2	2	2	2	3	1	4	1	3	1	8	3	rs143317071		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:98731338G>A	ENST00000336273.3	+	10	1770	c.1442G>A	c.(1441-1443)cGt>cAt	p.R481H	MTDH_ENST00000519934.1_Missense_Mutation_p.R425H	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	481					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TCTAAAACCCGTCCAAAACAG	0.333													19	57					0	0	0	0	A	98731338	G	A	98731338	3	1	335	1	0	0	0	0	1	0	0	0	9987	1145	40	1	1480	1	MTDH	8	98731338	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	60345430	98731338	47632684	57	62052											
MYC	4609	broad.mit.edu	37	chr8	128750945	128750945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgccgccaagctcgtctCagagaagctggcctcctacc	7	6	11	17	3	1	1	1	0	1	1	4	2	2	1	6	2	3	2	6	2	3	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:128750945C>T	ENST00000377970.2	+	2	992	c.482C>T	c.(481-483)tCa>tTa	p.S161L	MYC_ENST00000524013.1_Missense_Mutation_p.S160L|MYC_ENST00000259523.6_Missense_Mutation_p.S146L	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	146					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAGCTCGTCTCAGAGAAGCTG	0.622		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	20					0	0	0	0	T	128750945	C	T	128750945	3	4	335	1	0	0	0	0	1	0	0	0	10086	838	29	2	488	2	MYC	8	128750945	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	30019607	128750945	17613077	58	62053											
COL22A1	169044	broad.mit.edu	37	chr8	139890116	139890116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctcctccttgagtgcctCgcccacgcccacggcaaaga	8	6	9	18	3	0	2	0	1	0	1	3	2	2	2	5	1	2	2	5	1	1	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:139890116C>T	ENST00000303045.6	-	3	981	c.535G>A	c.(535-537)Gag>Aag	p.E179K	COL22A1_ENST00000435777.1_Missense_Mutation_p.E179K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	179	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGAGTGCCTCGCCCACGCCC	0.677										HNSCC(7;0.00092)			7	16					0	0	0	0	T	139890116	C	T	139890116	3	4	335	1	0	0	0	0	1	0	0	0	3711	893	31	1	4597	1	COL22A1	8	139890116	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	11139171	139890116	6473906	59	62054											
PSCA	8000	broad.mit.edu	37	chr8	143763518	143763518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgctgctccctgcactcGgcctgctgctctggggaccc	2	10	12	17	2	1	0	0	0	1	0	3	1	2	1	3	3	5	5	3	3	0	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:143763518G>T	ENST00000301258.4	+	3	396	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C		NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN	prostate stem cell antigen	105										endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCCTGCACTCGGCCTGCTGCT	0.682													9	15					3.09899e-07	3.25175e-07	1	0	T	143763518	G	T	143763518	3	4	335	1	0	0	0	0	1	0	0	0	12724	1116	39	3	323	3	PSCA	8	143763518	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	3873402	143763518	2600504	60	62055											
AGTPBP1	23287	broad.mit.edu	37	chr9	88162179	88162179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaatcgaggttcatcttCatccaagacataagtggtag	14	10	10	7	1	3	1	2	0	1	1	5	3	4	2	1	3	0	2	1	3	5	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr9:88162179C>T	ENST00000357081.3	-	26	3670	c.3526G>A	c.(3526-3528)Gaa>Aaa	p.E1176K	AGTPBP1_ENST00000432218.1_Missense_Mutation_p.M624I|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.E1188K|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.E1136K|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1176					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGTTCATCTTCATCCAAGACA	0.383													7	50					0	0	0	0	T	88162179	C	T	88162179	3	4	335	1	0	0	0	0	1	0	0	0	400	835	29	2	158	2	AGTPBP1	9	88162179	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08		88162179	53051252	61	62056											
HEMGN	55363	broad.mit.edu	37	chr9	100692729	100692729	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatttaggttcagctgattcTtggtgtgtttttgtagaaag	8	19	11	3	0	2	2	1	1	1	1	2	2	2	2	0	2	1	4	0	2	4	9			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr9:100692729T>G	ENST00000259456.3	-	4	1091	c.948A>C	c.(946-948)caA>caC	p.Q316H		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	316					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CAGCTGATTCTTGGTGTGTTT	0.368													31	128					0	0	0	0	G	100692729	T	G	100692729	3	3	335	1	0	0	0	0	1	0	0	0	7100	1606	56	5	514	5	HEMGN	9	100692729	Missense_Mutation	SNP	T	TCGA-CV-A45V-01A-21D-A25D-08	12530550	100692729	40520702	62	62057											
DDX31	64794	broad.mit.edu	37	chr9	135501125	135501125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatatcttccatcttaatctCagaaacgctgtaaaaggaag	16	11	6	8	1	3	1	1	0	3	1	5	2	4	2	1	1	1	2	1	1	7	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr9:135501125C>T	ENST00000372159.3	-	17	2105	c.1954G>A	c.(1954-1956)Gag>Aag	p.E652K	DDX31_ENST00000372153.1_Intron|DDX31_ENST00000438527.3_Missense_Mutation_p.E523K	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	652	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ATCTTAATCTCAGAAACGCTG	0.398													4	27					0	0	0	0	T	135501125	C	T	135501125	3	4	335	1	0	0	0	0	1	0	0	0	4388	835	29	2	617	2	DDX31	9	135501125	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	34808396	135501125	5712306	63	62058											
NOTCH1	4851	broad.mit.edu	37	chr9	139404216	139404216	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggcgtgttgttctcacAgtggatcccgctgaagcctg	6	11	13	11	2	2	1	2	1	1	0	4	2	3	2	2	2	1	3	2	2	1	2			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr9:139404216A>C	ENST00000277541.6	-	18	3013	c.2938T>G	c.(2938-2940)Tgt>Ggt	p.C980G		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	980	EGF-like 25; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGTTCTCACAGTGGATCCCG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			9	71					0	0	0	0	C	139404216	A	C	139404216	3	2	335	1	0	0	0	0	1	0	0	0	10617	188	7	5	4797	5	NOTCH1	9	139404216	Missense_Mutation	SNP	A	TCGA-CV-A45V-01A-21D-A25D-08	3903091	139404216	1809215	64	62059											
ZEB1	6935	broad.mit.edu	37	chr10	31809262	31809262	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatacggcaaaagatagaGaataaaccccttcaagaaca	20	5	7	9	1	1	4	1	0	0	4	1	5	1	4	2	1	3	1	2	1	9	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr10:31809262G>A	ENST00000446923.2	+	7	1342	c.951G>A	c.(949-951)gaG>gaA	p.E317E	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Silent_p.E334E|ZEB1_ENST00000542815.3_Silent_p.E266E|ZEB1_ENST00000320985.10_Silent_p.E333E|ZEB1_ENST00000560721.2_Silent_p.E313E	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	333					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAAGATAGAGAATAAACCCC	0.433													13	36					0	0	0	0	A	31809262	G	A	31809262	2	1	335	1	0	0	0	0	0	0	0	1	17718	933	33	2		2	ZEB1	10	31809262	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08		31809262	103725485	65	62060											
ATRNL1	26033	broad.mit.edu	37	chr10	116975496	116975496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaactaaaggagctattGtacaaggtggatatggccat	15	9	11	6	0	0	1	0	0	0	1	0	3	0	3	1	4	3	2	1	4	7	5			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr10:116975496G>T	ENST00000355044.3	+	9	1516	c.1390G>T	c.(1390-1392)Gta>Tta	p.V464L		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	464						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGGAGCTATTGTACAAGGTGG	0.313													6	30					0.0293803	0.029984	1	0	T	116975496	G	T	116975496	3	4	335	1	0	0	0	0	1	0	0	0	1211	1377	48	4	1424	4	ATRNL1	10	116975496	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	85166234	116975496	18559251	66	62061											
FAM24A	118670	broad.mit.edu	37	chr10	124672390	124672390	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcttgtccatctctcCagtgctgtgaaggttgtaga	7	14	12	8	0	2	2	0	1	2	1	5	3	4	3	2	2	1	3	2	2	2	3			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr10:124672390C>T	ENST00000368894.1	+	3	359	c.238C>T	c.(238-240)Cag>Tag	p.Q80*		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	80						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TCCATCTCTCCAGTGCTGTGA	0.522													23	57					0	0	0	0	T	124672390	C	T	124672390	4	4	335	1	0	0	0	0	0	1	0	0	5591	595	21	4	244	4	FAM24A	10	124672390	Nonsense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	7696894	124672390	10862357	67	62062											
TNNI2	7136	broad.mit.edu	37	chr11	1861837	1861837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaagcagaactacctggCggagcactgcccgccgctgc	10	4	13	14	3	0	2	0	0	0	2	0	4	0	3	3	2	6	3	3	2	3	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:1861837C>T	ENST00000381906.1	+	5	206	c.137C>T	c.(136-138)gCg>gTg	p.A46V	TNNI2_ENST00000252898.7_Missense_Mutation_p.A46V|TNNI2_ENST00000381911.1_Missense_Mutation_p.A46V|TNNI2_ENST00000381905.3_Missense_Mutation_p.A46V	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	46	Involved in binding TNC.				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACTACCTGGCGGAGCACTGC	0.682													6	25					0	0	0	0	T	1861837	C	T	1861837	3	4	335	1	0	0	0	0	1	0	0	0	16421	768	27	1	166	1	TNNI2	11	1861837	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08		1861837	133144679	68	62063											
LGR4	55366	broad.mit.edu	37	chr11	27406950	27406950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatccagccacagatgcCgtaactgaacaagtccttca	12	9	7	13	1	2	2	2	1	0	1	4	2	4	2	4	0	4	1	4	0	3	2	rs143913282		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:27406950C>G	ENST00000379214.4	-	5	910	c.467G>C	c.(466-468)cGg>cCg	p.R156P	LGR4_ENST00000389858.4_Missense_Mutation_p.R132P|LGR4_ENST00000480977.2_Missense_Mutation_p.R108P	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	156						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CCACAGATGCCGTAACTGAAC	0.507													12	46					0	0	0	0	G	27406950	C	G	27406950	3	3	335	1	0	0	0	0	1	0	0	0	8810	652	23	3	2444	3	LGR4	11	27406950	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	25545113	27406950	107599566	69	62064											
CD44	960	broad.mit.edu	37	chr11	35219730	35219730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaaatgaagatgaaagaGacagacacctcagtttttct	18	9	8	6	0	2	6	1	2	1	4	2	7	2	6	1	0	0	1	1	0	5	2			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:35219730G>A	ENST00000428726.2	+	7	982	c.859G>A	c.(859-861)Gac>Aac	p.D287N	CD44_ENST00000528922.1_3'UTR|CD44_ENST00000278386.6_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.D287N|CD44_ENST00000433354.2_Missense_Mutation_p.D287N|CD44_ENST00000434472.2_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.D244N|CD44_ENST00000437706.2_Missense_Mutation_p.D287N|CD44_ENST00000263398.6_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	287	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	AGATGAAAGAGACAGACACCT	0.423													3	38					0	0	0	0	A	35219730	G	A	35219730	3	1	335	1	0	0	0	0	1	0	0	0	3046	942	33	2	885	2	CD44	11	35219730	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	7812780	35219730	99786786	70	62065											
LRRC4C	57689	broad.mit.edu	37	chr11	40137483	40137483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaggttcgccagaccattGaaagccccaatttcaatggt	11	11	9	10	1	1	3	1	2	0	1	2	3	1	3	4	2	1	1	4	2	3	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:40137483G>A	ENST00000278198.2	-	2	2323	c.360C>T	c.(358-360)ttC>ttT	p.F120F	LRRC4C_ENST00000528697.1_Silent_p.F120F|LRRC4C_ENST00000527150.1_Silent_p.F120F|LRRC4C_ENST00000530763.1_Silent_p.F120F			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	120					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCAGACCATTGAAAGCCCCAA	0.423													14	41					0	0	0	0	A	40137483	G	A	40137483	2	1	335	1	0	0	0	0	0	0	0	1	9072	1281	45	2		2	LRRC4C	11	40137483	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	4917753	40137483	94869033	71	62066											
SLC22A11	55867	broad.mit.edu	37	chr11	64335222	64335222	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttccttggccgccgcaccAtccaggcgggttcccaggcc	4	8	12	17	3	0	0	0	0	0	0	3	0	3	0	7	4	0	3	7	4	0	3	rs146493539		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:64335222A>G	ENST00000301891.4	+	7	1584	c.1210A>G	c.(1210-1212)Atc>Gtc	p.I404V	SLC22A11_ENST00000377581.3_Missense_Mutation_p.I404V|SLC22A11_ENST00000377585.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	404					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CCGCCGCACCATCCAGGCGGG	0.697													8	27					0	0	0	0	G	64335222	A	G	64335222	3	3	335	1	0	0	0	0	1	0	0	0	14530	217	8	5	1236	5	SLC22A11	11	64335222	Missense_Mutation	SNP	A	TCGA-CV-A45V-01A-21D-A25D-08	24197739	64335222	70671294	72	62067											
DLAT	1737	broad.mit.edu	37	chr11	111914221	111914221	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtagaatcaccaagaaGgatatcgactcttttgtgcc	12	11	10	8	1	2	2	1	0	1	2	3	5	2	3	2	2	1	1	2	2	5	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:111914221G>C	ENST00000280346.6	+	8	1820	c.1161G>C	c.(1159-1161)aaG>aaC	p.K387N	DLAT_ENST00000393051.1_Missense_Mutation_p.K282N|DLAT_ENST00000537636.1_Missense_Mutation_p.K158N	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	387	E3-binding site (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	TCACCAAGAAGGATATCGACT	0.413													37	102					0	0	0	0	C	111914221	G	C	111914221	3	2	335	1	0	0	0	0	1	0	0	0	4586	991	35	4	1191	4	DLAT	11	111914221	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	47578999	111914221	23092295	73	62068											
ESAM	90952	broad.mit.edu	37	chr11	124624128	124624128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgatatcattggctggcTcctccagggccttgccccgg	5	11	11	14	1	1	1	1	1	0	0	3	1	3	1	5	4	1	2	5	4	1	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:124624128T>C	ENST00000278927.5	-	6	968	c.839A>G	c.(838-840)gAg>gGg	p.E280G	ESAM_ENST00000442070.2_Missense_Mutation_p.E101G	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	280					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		ATTGGCTGGCTCCTCCAGGGC	0.612													7	45					0	0	0	0	C	124624128	T	C	124624128	3	2	335	1	0	0	0	0	1	0	0	0	5285	1551	54	5	341	5	ESAM	11	124624128	Missense_Mutation	SNP	T	TCGA-CV-A45V-01A-21D-A25D-08	12709907	124624128	10382388	74	62069											
NCAPD3	23310	broad.mit.edu	37	chr11	134072773	134072773	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccctgagggttcggaacggTtagatgtctgcctttggtag	6	12	14	9	2	1	2	0	1	1	1	2	3	1	3	3	4	2	3	3	4	3	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:134072773T>C	ENST00000534548.2	-	13	1617	c.1553A>G	c.(1552-1554)aAc>aGc	p.N518S		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	518					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTCGGAACGGTTAGATGTCTG	0.373													7	50					0	0	0	0	C	134072773	T	C	134072773	3	2	335	1	0	0	0	0	1	0	0	0	10276	1725	60	5	3035	5	NCAPD3	11	134072773	Missense_Mutation	SNP	T	TCGA-CV-A45V-01A-21D-A25D-08	9448645	134072773	933743	75	62070											
ABCC9	10060	broad.mit.edu	37	chr12	22068752	22068752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtatgttgcttttgacagCaaattcacaaatggttgaag	13	13	9	6	0	1	2	1	2	0	0	1	2	1	2	0	1	2	5	0	1	4	6			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:22068752C>A	ENST00000261200.4	-	5	665	c.666G>T	c.(664-666)ttG>ttT	p.L222F	ABCC9_ENST00000261201.4_Missense_Mutation_p.L222F|ABCC9_ENST00000345162.2_Missense_Mutation_p.L222F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	222					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTTTTGACAGCAAATTCACAA	0.388													13	54					0.00185496	0.00191937	1	0	A	22068752	C	A	22068752	3	1	335	1	0	0	0	0	1	0	0	0	59	709	25	4	4261	4	ABCC9	12	22068752	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08		22068752	111783143	76	62071											
ITPR2	3709	broad.mit.edu	37	chr12	26750065	26750065	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtcttcacccccatttatCaactgaaatgataataagag	15	11	5	10	1	3	3	2	2	1	1	3	3	3	3	2	0	1	0	2	0	5	5			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:26750065C>T	ENST00000381340.3	-	31	4421	c.4005G>A	c.(4003-4005)ttG>ttA	p.L1335L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1335					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CCCCATTTATCAACTGAAATG	0.393													26	89					0	0	0	0	T	26750065	C	T	26750065	2	4	335	1	0	0	0	0	0	0	0	1	7974	825	29	2		2	ITPR2	12	26750065	Silent	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	4681313	26750065	107101830	77	62072											
TMTC1	83857	broad.mit.edu	37	chr12	29908713	29908713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaacaccgtgatgcctgtCtctttcaccagcatcgcaca	10	9	6	16	2	2	1	1	1	1	0	4	1	2	1	4	0	3	2	4	0	1	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:29908713C>G	ENST00000256062.5	-	4	809	c.336G>C	c.(334-336)gaG>gaC	p.E112D	TMTC1_ENST00000552618.1_Missense_Mutation_p.E220D|TMTC1_ENST00000381224.2_Missense_Mutation_p.E112D|TMTC1_ENST00000539277.1_Missense_Mutation_p.E220D|TMTC1_ENST00000551659.1_Missense_Mutation_p.E220D	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	220						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGATGCCTGTCTCTTTCACCA	0.473													14	40					0	0	0	0	G	29908713	C	G	29908713	3	3	335	1	0	0	0	0	1	0	0	0	16354	912	32	2	2048	2	TMTC1	12	29908713	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	3158648	29908713	103943182	78	62073											
DDN	23109	broad.mit.edu	37	chr12	49391306	49391306	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgtcaatgacaaagacGccttccccacgggacaggcc	10	5	12	14	3	1	2	1	1	0	1	2	3	2	3	4	3	0	0	4	3	2	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:49391306G>A	ENST00000421952.2	-	2	1374	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	451	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TGACAAAGACGCCTTCCCCAC	0.642													22	54					0	0	0	0	A	49391306	G	A	49391306	2	1	335	1	0	0	0	0	0	0	0	1	4365	1074	38	1		1	DDN	12	49391306	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	19482593	49391306	84460589	79	62074											
ITGA7	3679	broad.mit.edu	37	chr12	56089351	56089351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgacccgggtacagaagCgggcgcggaccagctgcaga	9	3	16	13	5	0	3	0	1	0	2	0	4	0	4	2	3	4	4	2	3	2	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:56089351C>T	ENST00000257880.7	-	15	2309	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H	ITGA7_ENST00000553804.1_Missense_Mutation_p.R657H|ITGA7_ENST00000257879.6_Missense_Mutation_p.R653H|ITGA7_ENST00000394229.2_Missense_Mutation_p.R653H|ITGA7_ENST00000555728.1_Missense_Mutation_p.R697H|ITGA7_ENST00000452168.2_Missense_Mutation_p.R560H|ITGA7_ENST00000394230.2_Missense_Mutation_p.R657H|ITGA7_ENST00000347027.6_Missense_Mutation_p.R647H			Q13683	ITA7_HUMAN	integrin, alpha 7	697					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGTACAGAAGCGGGCGCGGAC	0.587													10	63					0	0	0	0	T	56089351	C	T	56089351	3	4	335	1	0	0	0	0	1	0	0	0	7934	768	27	1	1503	1	ITGA7	12	56089351	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	6698045	56089351	77762544	80	62075											
FAM19A2	338811	broad.mit.edu	37	chr12	62104199	62104199	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggttaatgggttacCtacaaaggaaggagaaaata	15	9	11	6	0	0	1	0	0	0	1	1	3	1	2	2	4	2	2	2	4	8	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:62104199C>A	ENST00000416284.3	-	5	1969		c.e5-1		FAM19A2_ENST00000551449.1_Splice_Site|FAM19A2_ENST00000551619.1_Splice_Site|FAM19A2_ENST00000550003.1_Splice_Site	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2							cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		AATGGGTTACCTACAAAGGAA	0.343													25	78					3.65163e-15	3.91434e-15	1	0	A	62104199	C	A	62104199	5	1	335	1	0	0	0	0	0	0	1	0	5575	695	24	4	15	4	FAM19A2	12	62104199	Splice_Site	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	6014848	62104199	71747696	81	62076											
HAL	3034	broad.mit.edu	37	chr12	96368042	96368042	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactccgggattttggtggAtttcttgtgcagaaattgca	9	14	12	6	1	1	2	0	0	1	2	2	4	2	4	1	3	2	2	1	3	1	5			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:96368042A>T	ENST00000261208.3	-	21	2310	c.1942T>A	c.(1942-1944)Tcc>Acc	p.S648T	HAL_ENST00000538703.1_3'UTR|HAL_ENST00000541929.1_Missense_Mutation_p.S440T	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	648					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ATTTTGGTGGATTTCTTGTGC	0.433													27	90					0	0	0	0	T	96368042	A	T	96368042	3	4	335	1	0	0	0	0	1	0	0	0	6997	333	12	5	35	5	HAL	12	96368042	Missense_Mutation	SNP	A	TCGA-CV-A45V-01A-21D-A25D-08	34263843	96368042	37483853	82	62077											
MED13L	23389	broad.mit.edu	37	chr12	116446288	116446288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctggaggcctgaactcagCatcatcactgggtgggagac	9	8	13	11	0	4	2	3	1	1	1	4	4	4	3	1	4	2	1	1	4	1	0			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:116446288C>A	ENST00000281928.3	-	10	2136	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	644					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTGAACTCAGCATCATCACTG	0.512													6	30					0.00198382	0.00203854	1	0	A	116446288	C	A	116446288	3	1	335	1	0	0	0	0	1	0	0	0	9500	710	25	4	4790	4	MED13L	12	116446288	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	20078246	116446288	17405607	83	62078											
PSPC1	55269	broad.mit.edu	37	chr13	20279947	20279947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggaggaggaccttggttaCcagcaggggctgggctaaac	9	8	16	8	0	0	0	0	0	0	0	0	3	0	3	2	7	3	4	2	7	3	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr13:20279947C>T	ENST00000338910.4	-	8	1400	c.1241G>A	c.(1240-1242)gGt>gAt	p.G414D		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	414	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ACCTTGGTTACCAGCAGGGGC	0.428													6	80					0	0	0	0	T	20279947	C	T	20279947	3	4	335	1	0	0	0	0	1	0	0	0	12795	507	18	4	338	4	PSPC1	13	20279947	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08		20279947	94889931	84	62079											
SIAH3	283514	broad.mit.edu	37	chr13	46357626	46357626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcgaggtgttgaggacgagGcagtccccgtccgtaatcac	9	7	14	11	4	1	1	1	1	0	0	3	4	3	2	3	3	1	3	3	3	1	2			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr13:46357626G>A	ENST00000400405.2	-	2	808	c.702C>T	c.(700-702)tgC>tgT	p.C234C		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	234					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						TGAGGACGAGGCAGTCCCCGT	0.612													17	56					0	0	0	0	A	46357626	G	A	46357626	2	1	335	1	0	0	0	0	0	0	0	1	14389	1195	42	4		4	SIAH3	13	46357626	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	26077679	46357626	68812252	85	62080											
DHRS1	115817	broad.mit.edu	37	chr14	24761870	24761871	+	Frame_Shift_Del	DEL	CA	CA	-																															gtcctcaccgcagctttgccCacaccataggggacattgaa																										TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr14:24761870_24761871delCA	ENST00000288111.7	-	5	770_771	c.494_495delTG	c.(493-495)gfs	p.V165fs	DHRS1_ENST00000396813.1_Frame_Shift_Del_p.V165fs	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	165						endoplasmic reticulum	binding|oxidoreductase activity	p.V165V(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		CAGCTTTGCCCACACCATAGGG	0.55													14	63	---	---	---	---					-	24761871	CA	-	24761870	7	5	335	1	0	1	0	1	0	0	0	0	4523	581	21	0	466	0	DHRS1	14	24761870	Frame_Shift_Del	DEL	CA	TCGA-CV-A45V-01A-21D-A25D-08		24761870	82587670	86	62081											
MDGA2	161357	broad.mit.edu	37	chr14	47530496	47530496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgatactgatatcagatattCctcctcccttcagagatgct	10	13	6	12	1	2	3	2	1	0	2	5	5	5	3	3	0	2	1	3	0	3	5			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr14:47530496C>G	ENST00000426342.1	-	7	1333	c.587G>C	c.(586-588)gGa>gCa	p.G196A	MDGA2_ENST00000357362.3_Missense_Mutation_p.G196A|MDGA2_ENST00000399232.2_Missense_Mutation_p.G494A|MDGA2_ENST00000439988.2_Missense_Mutation_p.G425A	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	425	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATCAGATATTCCTCCTCCCTT	0.373													23	114					0	0	0	0	G	47530496	C	G	47530496	3	3	335	1	0	0	0	0	1	0	0	0	9476	855	30	2	1640	2	MDGA2	14	47530496	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	22768626	47530496	59819044	87	62082											
ARID4A	5926	broad.mit.edu	37	chr14	58838631	58838631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcgggagcctccatgtcatCtgcttcatcagacactggaa	9	10	10	12	1	4	1	3	0	1	1	5	3	5	3	2	2	3	1	2	2	1	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr14:58838631C>T	ENST00000355431.3	+	24	4071	c.3698C>T	c.(3697-3699)tCt>tTt	p.S1233F	ARID4A_ENST00000348476.3_Missense_Mutation_p.S1164F|ARID4A_ENST00000431317.2_Missense_Mutation_p.S1164F|ARID4A_ENST00000395168.3_Missense_Mutation_p.S1179F|RP11-517O13.3_ENST00000556390.1_RNA	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1233					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCCATGTCATCTGCTTCATCA	0.423													6	20					0	0	0	0	T	58838631	C	T	58838631	3	4	335	1	0	0	0	0	1	0	0	0	921	913	32	2	3788	2	ARID4A	14	58838631	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	11308135	58838631	48510909	88	62083											
USP3	9960	broad.mit.edu	37	chr15	63824819	63824819	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaataacatgatgcaattggTatattgtgtatttttctttt	12	20	6	3	0	1	1	0	1	1	0	1	1	1	1	0	1	2	3	0	1	6	10			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr15:63824819T>C	ENST00000558285.1	+	1	115	c.14T>C	c.(13-15)gTa>gCa	p.V5A	USP3_ENST00000536001.1_Intron|USP3_ENST00000540797.1_Intron|USP3_ENST00000268049.7_Intron|USP3_ENST00000539772.1_Intron|USP3_ENST00000380324.3_Intron			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	0					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		ATGCAATTGGTATATTGTGTA	0.393													9	35					0	0	0	0	C	63824819	T	C	63824819	3	2	335	1	0	0	0	0	1	0	0	0	17156	1653	57	5		5	USP3	15	63824819	Missense_Mutation	SNP	T	TCGA-CV-A45V-01A-21D-A25D-08		63824819	38706573	89	62084											
CYP1A1	1543	broad.mit.edu	37	chr15	75013358	75013358	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagacacaacgccccttgggGatgtaaaagcctttcaaact	14	8	8	11	1	1	1	1	0	0	1	1	2	1	2	3	2	3	1	3	2	5	3			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr15:75013358G>A	ENST00000379727.3	-	6	1401	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	CYP1A1_ENST00000564596.1_Silent_p.I140I|CYP1A1_ENST00000567032.1_Silent_p.I401I|CYP1A1_ENST00000395048.2_Silent_p.I401I|CYP1A1_ENST00000395049.4_Intron			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	401					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GCCCCTTGGGGATGTAAAAGC	0.507									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				22	78					0	0	0	0	A	75013358	G	A	75013358	2	1	335	1	0	0	0	0	0	0	0	1	4181	1164	41	2		2	CYP1A1	15	75013358	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	11188539	75013358	27518034	90	62085											
HSD11B2	3291	broad.mit.edu	37	chr16	67469639	67469639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccggtgccatcgagctgcGtacctgctgctcccctcgcc	3	8	10	20	4	0	0	0	0	0	0	3	1	1	0	7	1	6	4	7	1	1	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr16:67469639G>A	ENST00000326152.5	+	2	506	c.374G>A	c.(373-375)cGt>cAt	p.R125H	HSD11B2_ENST00000567684.2_3'UTR	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	125					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	ATCGAGCTGCGTACCTGCTGC	0.597													13	28					0	0	0	0	A	67469639	G	A	67469639	3	1	335	1	0	0	0	0	1	0	0	0	7427	1145	40	1	380	1	HSD11B2	16	67469639	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08		67469639	22885114	91	62086											
CTCF	10664	broad.mit.edu	37	chr16	67650732	67650732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatcgtcgttacaaacacaCccacgagaagccattcaagt	14	7	7	13	3	1	1	1	0	0	1	3	2	1	1	2	0	3	2	2	0	4	2			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr16:67650732C>G	ENST00000264010.4	+	5	1481	c.1037C>G	c.(1036-1038)aCc>aGc	p.T346S	CTCF_ENST00000401394.1_Missense_Mutation_p.T18S	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	346					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TACAAACACACCCACGAGAAG	0.478													43	153					0	0	0	0	G	67650732	C	G	67650732	3	3	335	1	0	0	0	0	1	0	0	0	4032	507	18	4	1047	4	CTCF	16	67650732	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	181093	67650732	22704021	92	62087											
PDF	64146	broad.mit.edu	37	chr16	69362955	69362956	+	Frame_Shift_Ins	INS	-	-	G																															ccttcatccaatagacgtttINSgtgaacgtcctgctgtccat																										TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr16:69362955_69362956insG	ENST00000288022.1	-	2	725_726	c.701_702insC	c.(700-702)aaafs	p.K234fs	COG8_ENST00000306875.4_3'UTR	NM_022341.1	NP_071736.1	Q9HBH1	DEFM_HUMAN	peptide deformylase (mitochondrial)	234					N-terminal protein amino acid modification|peptidyl-methionine modification|positive regulation of cell proliferation|translation	mitochondrion	iron ion binding|peptide deformylase activity			NS(1)|prostate(1)	2						AATAGACGTTTGTGAACGTCCT	0.53													31	125	---	---	---	---					G	69362956	-	G	69362955	7	5	335	1	0	1	1	0	0	0	0	0	11727	1799	63	0	33	0	PDF	16	69362955	Frame_Shift_Ins	INS	-	TCGA-CV-A45V-01A-21D-A25D-08	1712223	69362955	20991798	93	62088											
MBTPS1	8720	broad.mit.edu	37	chr16	84132699	84132699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagacttttcgttggggcGtgacccgtttgatgtttgga	7	14	14	6	3	0	3	0	2	0	1	1	5	0	4	1	3	0	3	1	3	1	5	rs142980972		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr16:84132699G>A	ENST00000343411.3	-	3	875	c.380C>T	c.(379-381)aCg>aTg	p.T127M		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	127					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGTTGGGGCGTGACCCGTTT	0.413													17	72					0	0	0	0	A	84132699	G	A	84132699	3	1	335	1	0	0	0	0	1	0	0	0	9430	1145	40	1	2862	1	MBTPS1	16	84132699	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	14769744	84132699	6222054	94	62089											
NLRP1	22861	broad.mit.edu	37	chr17	5463006	5463006	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccagtgttgacttcccaattCcagcagccccctgcagtatg	8	10	8	15	0	0	1	0	1	0	0	2	1	2	1	5	0	3	4	5	0	2	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:5463006C>G	ENST00000345221.3	-	4	1564	c.1010G>C	c.(1009-1011)gGa>gCa	p.G337A	NLRP1_ENST00000269280.4_Missense_Mutation_p.G337A|NLRP1_ENST00000262467.5_Missense_Mutation_p.G337A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.G337A|NLRP1_ENST00000577119.1_Missense_Mutation_p.G337A|NLRP1_ENST00000572272.1_Missense_Mutation_p.G337A	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	337	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTTCCCAATTCCAGCAGCCCC	0.542													35	137					0	0	0	0	G	5463006	C	G	5463006	3	3	335	1	0	0	0	0	1	0	0	0	10541	855	30	2	3542	2	NLRP1	17	5463006	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08		5463006	75732204	95	62090											
MYH8	4626	broad.mit.edu	37	chr17	10318816	10318816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccagattcatccttcttCttctctccagtaactgcaat	8	16	4	13	0	4	1	1	0	3	1	7	1	6	1	3	0	3	2	3	0	2	6			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:10318816C>T	ENST00000403437.2	-	7	715	c.621G>A	c.(619-621)aaG>aaA	p.K207K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	207	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATCCTTCTTCTTCTCTCCAG	0.468									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				23	60					0	0	0	0	T	10318816	C	T	10318816	2	4	335	1	0	0	0	0	0	0	0	1	10111	912	32	2		2	MYH8	17	10318816	Silent	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	4855810	10318816	70876394	96	62091											
EVI2B	2124	broad.mit.edu	37	chr17	29632280	29632280	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacacggcttgctgggaGgaggtgttggctattggtgt	6	12	18	5	1	0	1	0	1	0	0	0	3	0	3	0	6	2	4	0	6	2	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:29632280G>T	ENST00000330927.4	-	2	502	c.348C>A	c.(346-348)tcC>tcA	p.S116S	NF1_ENST00000358273.4_Intron|EVI2B_ENST00000544462.1_Silent_p.S131S|CTD-2370N5.3_ENST00000578584.1_3'UTR|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Silent_p.S116S	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	116						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		CTTGCTGGGAGGAGGTGTTGG	0.463													50	182					1.47857e-17	1.61991e-17	1	0	T	29632280	G	T	29632280	2	4	335	1	0	0	0	0	0	0	0	1	5326	987	35	4		4	EVI2B	17	29632280	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	19313464	29632280	51562930	97	62092											
MED1	5469	broad.mit.edu	37	chr17	37566595	37566595	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagacaggtggcggcgtgtGatgaggaggggtcggactcg	8	6	21	6	4	0	3	0	2	0	1	2	6	0	5	0	7	0	0	0	7	0	0			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:37566595G>C	ENST00000300651.6	-	17	2102	c.1879C>G	c.(1879-1881)Cac>Gac	p.H627D	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	627	Interaction with PPARGC1A and THRA.|Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGCGGCGTGTGATGAGGAGGG	0.532										HNSCC(31;0.082)			12	73					0	0	0	0	C	37566595	G	C	37566595	3	2	335	1	0	0	0	0	1	0	0	0	9494	1290	45	2	2870	2	MED1	17	37566595	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	7934315	37566595	43628615	98	62093											
RPL27	6155	broad.mit.edu	37	chr17	41154796	41154796	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggccaaggtcaagtttgaaGagaggtaagtaggctttggt	12	10	15	4	0	1	2	1	1	0	1	1	3	1	2	1	5	0	4	1	5	5	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:41154796G>C	ENST00000589913.1	+	3	632	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	RPL27_ENST00000253788.5_Missense_Mutation_p.E120Q|RPL27_ENST00000590864.1_Missense_Mutation_p.E64Q|RPL27_ENST00000589037.1_Missense_Mutation_p.E120Q			P61353	RL27_HUMAN	ribosomal protein L27	120					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CAAGTTTGAAGAGAGGTAAGT	0.448													15	76					0	0	0	0	C	41154796	G	C	41154796	3	2	335	1	0	0	0	0	1	0	0	0	13660	943	33	2	368	2	RPL27	17	41154796	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	3588201	41154796	40040414	99	62094											
ENGASE	64772	broad.mit.edu	37	chr17	77082217	77082217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagggatgagtgatgactCtccgggcagggagctgccga	8	6	19	8	2	1	3	0	3	1	0	2	7	1	6	2	4	2	2	2	4	0	0			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:77082217C>T	ENST00000579016.1	+	14	2018	c.2018C>T	c.(2017-2019)tCt>tTt	p.S673F		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	673						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGTGATGACTCTCCGGGCAGG	0.627													9	47					0	0	0	0	T	77082217	C	T	77082217	3	4	335	1	0	0	0	0	1	0	0	0	5156	913	32	2	2072	2	ENGASE	17	77082217	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	35927421	77082217	4112993	100	62095											
SPIRE1	56907	broad.mit.edu	37	chr18	12454453	12454453	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttcttccacagtaagagcGaggcattccactgggtagca	11	9	10	11	1	1	1	0	0	1	1	3	2	3	1	2	2	2	4	2	2	2	5			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr18:12454453G>A	ENST00000409402.4	-	13	1935	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	SPIRE1_ENST00000410092.3_Silent_p.L542L|SPIRE1_ENST00000383356.2_Silent_p.L383L|SPIRE1_ENST00000309836.5_Silent_p.L345L|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Silent_p.L422L	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	556	Spir-box.					cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CAGTAAGAGCGAGGCATTCCA	0.448													24	71					0	0	0	0	A	12454453	G	A	12454453	2	1	335	1	0	0	0	0	0	0	0	1	15161	1045	37	1		1	SPIRE1	18	12454453	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08		12454453	65622795	101	62096											
THOP1	7064	broad.mit.edu	37	chr19	2811699	2811699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatggacatgttccacacGcgcttcaagcaggagggtgt	9	9	12	11	2	1	0	1	0	0	0	3	2	3	2	2	3	1	3	2	3	1	2			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:2811699G>A	ENST00000307741.6	+	12	2078	c.1875G>A	c.(1873-1875)acG>acA	p.T625T	THOP1_ENST00000395212.4_Silent_p.T136T|THOP1_ENST00000586677.1_Silent_p.T504T	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	625					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		TGTTCCACACGCGCTTCAAGC	0.622													12	49					0	0	0	0	A	2811699	G	A	2811699	2	1	335	1	0	0	0	0	0	0	0	1	15965	1074	38	1		1	THOP1	19	2811699	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08		2811699	56317284	102	62097											
MUC16	94025	broad.mit.edu	37	chr19	9020030	9020030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggtgtaggggcccagctCtttgatgccattggtcagtt	6	12	14	9	0	2	1	1	1	1	0	2	1	2	1	2	4	2	3	2	4	1	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:9020030C>T	ENST00000397910.4	-	21	37668	c.37465G>A	c.(37465-37467)Gag>Aag	p.E12489K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12491	SEA 3.				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						GGGCCCAGCTCTTTGATGCCA	0.517													37	132					0	0	0	0	T	9020030	C	T	9020030	3	4	335	1	0	0	0	0	1	0	0	0	10043	922	32	2	6314	2	MUC16	19	9020030	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	6208331	9020030	50108953	103	62098											
ZNF562	54811	broad.mit.edu	37	chr19	9768731	9768731	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagcatcacatctctgtaGaggtatttctgagttgtgtc	8	15	9	9	0	3	2	1	1	2	1	6	2	4	2	1	1	1	4	1	1	2	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:9768731G>C	ENST00000448622.1	-	4	357	c.195C>G	c.(193-195)ctC>ctG	p.L65L	ZNF562_ENST00000537617.1_Intron|ZNF562_ENST00000453372.2_Silent_p.L65L|ZNF562_ENST00000453792.2_5'UTR|ZNF562_ENST00000541032.1_Silent_p.L28L|ZNF562_ENST00000587392.1_Silent_p.L65L|ZNF562_ENST00000590155.1_Silent_p.L65L|ZNF562_ENST00000293648.4_Intron	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						CATCTCTGTAGAGGTATTTCT	0.488													6	23					0	0	0	0	C	9768731	G	C	9768731	2	2	335	1	0	0	0	0	0	0	0	1	18088	929	33	2		2	ZNF562	19	9768731	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	748701	9768731	49360252	104	62099											
CARM1	10498	broad.mit.edu	37	chr19	11027111	11027111	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttcctaccattggtgacgtCcaccttgcacccttcacgga	7	12	7	15	2	1	1	1	1	0	0	3	2	3	2	5	2	2	1	5	2	1	5	rs148487813		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:11027111C>T	ENST00000327064.4	+	7	1066	c.876C>T	c.(874-876)gtC>gtT	p.V292V	CARM1_ENST00000344150.4_Silent_p.V292V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	292					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TTGGTGACGTCCACCTTGCAC	0.602													6	34					0	0	0	0	T	11027111	C	T	11027111	2	4	335	1	0	0	0	0	0	0	0	1	2680	842	30	2		2	CARM1	19	11027111	Silent	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	1258380	11027111	48101872	105	62100											
OR10H2	26538	broad.mit.edu	37	chr19	15839711	15839711	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtcctcacgcccttcctCagccccatcatcttcagcct	6	10	5	20	1	5	0	4	0	1	0	7	0	7	0	6	0	2	1	6	0	0	2			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:15839711C>G	ENST00000305899.3	+	1	878	c.858C>G	c.(856-858)ctC>ctG	p.L286L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CGCCCTTCCTCAGCCCCATCA	0.557													18	61					0	0	0	0	G	15839711	C	G	15839711	2	3	335	1	0	0	0	0	0	0	0	1	10977	813	29	2		2	OR10H2	19	15839711	Silent	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	4812600	15839711	43289272	106	62101											
KIAA1683	80726	broad.mit.edu	37	chr19	18376100	18376100	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggcacgtggttatgtcTgtgatcggctgcccccggga	6	10	15	10	3	1	2	0	2	1	0	2	3	1	3	2	4	1	3	2	4	1	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:18376100T>C	ENST00000392413.3	-	3	2465	c.2250A>G	c.(2248-2250)acA>acG	p.T750T	KIAA1683_ENST00000600328.2_Silent_p.T750T|KIAA1683_ENST00000600359.2_Silent_p.T704T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	750						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGGTTATGTCTGTGATCGGCT	0.612													31	80					0	0	0	0	C	18376100	T	C	18376100	2	2	335	1	0	0	0	0	0	0	0	1	8302	1567	55	5		5	KIAA1683	19	18376100	Silent	SNP	T	TCGA-CV-A45V-01A-21D-A25D-08	2536389	18376100	40752883	107	62102											
MARK4	57787	broad.mit.edu	37	chr19	45805657	45805657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atctaccttgggatcaaacgGaaaccgccccccggctgctc	9	7	9	16	3	2	0	1	0	1	0	3	2	2	2	5	3	4	2	5	3	3	2			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:45805657G>A	ENST00000262891.4	+	17	2279	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	MARK4_ENST00000300843.4_Silent_p.R676R	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	650					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGATCAAACGGAAACCGCCCC	0.617													28	181					0	0	0	0	A	45805657	G	A	45805657	3	1	335	1	0	0	0	0	1	0	0	0	9384	1161	41	2	2098	2	MARK4	19	45805657	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	27429557	45805657	13323326	108	62103											
SIGLEC11	114132	broad.mit.edu	37	chr19	50453366	50453366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccgcaggctcccagagcCtcaggccctggaagctgagg	7	5	15	14	1	1	2	1	1	0	1	3	3	3	3	4	5	2	3	4	5	1	0			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:50453366C>T	ENST00000447370.2	-	11	2048	c.1958G>A	c.(1957-1959)aGg>aAg	p.R653K	CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.R557K	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	653					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCCAGAGCCTCAGGCCCTG	0.667													9	27					0	0	0	0	T	50453366	C	T	50453366	3	4	335	1	0	0	0	0	1	0	0	0	14395	681	24	4	142	4	SIGLEC11	19	50453366	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	4647709	50453366	8675617	109	62104											
NLRP8	126205	broad.mit.edu	37	chr19	56466411	56466411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgatgcttccagaggccacGctactgatcatgataagatt	12	10	9	10	2	1	4	1	2	0	2	2	5	2	4	2	1	2	2	2	1	2	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:56466411G>A	ENST00000291971.3	+	3	1058	c.987G>A	c.(985-987)acG>acA	p.T329T	NLRP8_ENST00000590542.1_Silent_p.T329T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	329	NACHT.					cytoplasm	ATP binding	p.T329T(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAGAGGCCACGCTACTGATCA	0.488													18	84					0	0	0	0	A	56466411	G	A	56466411	2	1	335	1	0	0	0	0	0	0	0	1	10553	1074	38	1		1	NLRP8	19	56466411	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	6013045	56466411	2662572	110	62105											
GFRA4	64096	broad.mit.edu	37	chr20	3641469	3641469	+	Frame_Shift_Del	DEL	G	G	-																															aggcagccgtcgggggcgctGggcgctggggtgcacgagac																										TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr20:3641469delG	ENST00000290417.2	-	3	434	c.435delC	c.(433-435)ccfs	p.P145fs	GFRA4_ENST00000319242.3_Frame_Shift_Del_p.Q172fs	NM_022139.3|NM_145762.2	NP_071422.1|NP_665705.1	Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	151						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						CGGGGGCGCTGGGCGCTGGGG	0.796													2	4	---	---	---	---					-	3641469	G	-	3641469	7	5	335	1	0	1	0	1	0	0	0	0	6401	1357	47	0	401	0	GFRA4	20	3641469	Frame_Shift_Del	DEL	G	TCGA-CV-A45V-01A-21D-A25D-08		3641469	59384051	111	62106											
POLR3F	10621	broad.mit.edu	37	chr20	18464161	18464161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgaaggtggtgagatttcaCcatctaactgtatttacatg	12	13	9	7	1	2	1	1	1	1	1	2	3	2	1	1	2	2	1	1	2	4	5			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr20:18464161C>T	ENST00000377603.4	+	9	1290	c.910C>T	c.(910-912)Cca>Tca	p.P304S	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	304					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						TGAGATTTCACCATCTAACTG	0.308													6	21					0	0	0	0	T	18464161	C	T	18464161	3	4	335	1	0	0	0	0	1	0	0	0	12305	507	18	4	944	4	POLR3F	20	18464161	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	14822692	18464161	44561359	112	62107											
REM1	28954	broad.mit.edu	37	chr20	30070268	30070268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacaaggcagacttggcccGctgccgagaagtctctgtgg	9	7	13	12	2	1	2	0	0	1	2	2	3	1	2	2	3	2	2	2	3	3	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr20:30070268G>A	ENST00000201979.2	+	4	895	c.602G>A	c.(601-603)cGc>cAc	p.R201H		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	201					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GACTTGGCCCGCTGCCGAGAA	0.612													5	38					0	0	0	0	A	30070268	G	A	30070268	3	1	335	1	0	0	0	0	1	0	0	0	13304	1087	38	1	612	1	REM1	20	30070268	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	11606107	30070268	32955252	113	62108											
NCAM2	4685	broad.mit.edu	37	chr21	22652929	22652929	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgacaatttcacttagcaaAgtagagcttagtgttggaga	13	12	11	5	0	1	3	1	1	0	2	1	4	1	3	0	1	2	4	0	1	5	5			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr21:22652929A>C	ENST00000400546.1	+	2	336	c.87A>C	c.(85-87)aaA>aaC	p.K29N	NCAM2_ENST00000535285.1_Missense_Mutation_p.K54N|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	29	Ig-like C2-type 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CACTTAGCAAAGTAGAGCTTA	0.303													5	13					0	0	0	0	C	22652929	A	C	22652929	3	2	335	1	0	0	0	0	1	0	0	0	10273	69	3	5	93	5	NCAM2	21	22652929	Missense_Mutation	SNP	A	TCGA-CV-A45V-01A-21D-A25D-08		22652929	25476966	114	62109											
OR11H1	81061	broad.mit.edu	37	chr22	16449114	16449114	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacaagagtataggatcCaataataaagaggaagttac	19	7	10	5	0	0	2	0	0	0	2	1	5	1	5	1	3	1	2	1	3	9	5			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr22:16449114C>A	ENST00000252835.4	-	1	691	c.691G>T	c.(691-693)Gga>Tga	p.G231*		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GTATAGGATCCAATAATAAAG	0.428													28	98					5.45727e-16	5.89227e-16	1	0	A	16449114	C	A	16449114	4	1	335	1	0	0	0	0	0	1	0	0	10997	603	21	4	291	4	OR11H1	22	16449114	Nonsense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08		16449114	34855452	115	62110											
IL3RA	3563	broad.mit.edu	37	chrX	1471372	1471372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcggtatcccctgcacaGataagtttgtcgtcttttca	7	15	7	12	2	2	1	1	0	1	1	5	1	3	1	3	1	1	3	3	1	2	6			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:1471372G>T	ENST00000331035.4	+	6	938	c.589G>T	c.(589-591)Gat>Tat	p.D197Y	IL3RA_ENST00000381469.2_Missense_Mutation_p.D119Y	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	197						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCCCTGCACAGATAAGTTTGT	0.572													18	45					9.16793e-09	9.6881e-09	1	0	T	1471372	G	T	1471372	3	4	335	1	0	0	0	0	1	0	0	0	7748	942	33	2	607	2	IL3RA	23	1471372	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08		1471372	153799188	116	62111											
TBL1X	6907	broad.mit.edu	37	chrX	9679711	9679711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggcgtctgcacccacacGctcacgaagcatcaggagcc	10	4	11	16	4	3	0	2	0	1	0	3	3	3	1	2	2	3	3	2	2	1	0			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:9679711G>A	ENST00000217964.7	+	16	2140	c.1500G>A	c.(1498-1500)acG>acA	p.T500T	TBL1X_ENST00000407597.2_Silent_p.T500T|TBL1X_ENST00000536365.1_Silent_p.T449T|TBL1X_ENST00000380961.1_Silent_p.T449T|TBL1X_ENST00000424279.1_Silent_p.T449T	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	500					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GCACCCACACGCTCACGAAGC	0.517													10	28					0	0	0	0	A	9679711	G	A	9679711	2	1	335	1	0	0	0	0	0	0	0	1	15733	1074	38	1		1	TBL1X	23	9679711	Silent	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	8208339	9679711	145590849	117	62112											
HDX	139324	broad.mit.edu	37	chrX	83616598	83616598	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggctaagtctcggtcaCtgaactgagtgcggtcctgt	6	11	15	9	2	2	2	1	2	1	0	4	2	3	2	1	4	2	1	1	4	2	1			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:83616598C>G	ENST00000297977.5	-	5	1439	c.1328G>C	c.(1327-1329)aGt>aCt	p.S443T	HDX_ENST00000506585.2_Missense_Mutation_p.S385T|HDX_ENST00000373177.2_Missense_Mutation_p.S443T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	443						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTCTCGGTCACTGAACTGAGT	0.368													7	18					0	0	0	0	G	83616598	C	G	83616598	3	3	335	1	0	0	0	0	1	0	0	0	7076	565	20	4	768	4	HDX	23	83616598	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	73936887	83616598	71653962	118	62113											
GPRASP2	114928	broad.mit.edu	37	chrX	101971737	101971737	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcacttattgaaaccttgcTtaattatccatcctctagag	11	15	4	11	0	2	2	1	1	1	1	4	2	4	2	3	0	2	1	3	0	5	6			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:101971737T>A	ENST00000543253.1	+	5	2859	c.1940T>A	c.(1939-1941)cTt>cAt	p.L647H	GPRASP2_ENST00000332262.5_Missense_Mutation_p.L647H|GPRASP2_ENST00000535209.1_Missense_Mutation_p.L647H	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAACCTTGCTTAATTATCCA	0.348													14	47					0	0	0	0	A	101971737	T	A	101971737	3	1	335	1	0	0	0	0	1	0	0	0	6773	1609	56	5	1942	5	GPRASP2	23	101971737	Missense_Mutation	SNP	T	TCGA-CV-A45V-01A-21D-A25D-08	18355139	101971737	53298823	119	62114											
GLRA4	441509	broad.mit.edu	37	chrX	102979121	102979121	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaggtctggcttccagaTagagtccagcatggagggat	11	8	15	7	0	1	3	0	0	1	3	3	6	3	5	2	4	1	2	2	4	2	2			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:102979121T>A	ENST00000372617.4	-	4	799	c.379A>T	c.(379-381)Atc>Ttc	p.I127F		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	127						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGCTTCCAGATAGAGTCCAGC	0.507													39	117					0	0	0	0	A	102979121	T	A	102979121	3	1	335	1	0	0	0	0	1	0	0	0	6508	1406	49	5	993	5	GLRA4	23	102979121	Missense_Mutation	SNP	T	TCGA-CV-A45V-01A-21D-A25D-08	1007384	102979121	52291439	120	62115											
MAGEC3	139081	broad.mit.edu	37	chrX	140983074	140983074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccctggtcagccttggcagGgttcgcggatgtgctttccc	3	11	14	13	2	1	0	1	0	0	0	3	1	2	1	3	4	2	3	3	4	0	3			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:140983074G>A	ENST00000298296.1	+	5	929	c.929G>A	c.(928-930)gGg>gAg	p.G310E	MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.G62E|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	310	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTTGGCAGGGTTCGCGGAT	0.597													39	82					0	0	0	0	A	140983074	G	A	140983074	3	1	335	1	0	0	0	0	1	0	0	0	9251	1232	43	4	947	4	MAGEC3	23	140983074	Missense_Mutation	SNP	G	TCGA-CV-A45V-01A-21D-A25D-08	38003953	140983074	14287486	121	62116											
SPANXN3	139067	broad.mit.edu	37	chrX	142596802	142596802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatccttcagataagtCtacgccttcgtcctcctcct	8	13	6	14	2	2	3	1	1	1	2	7	3	6	3	5	0	1	0	5	0	3	4			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:142596802C>A	ENST00000370503.2	-	2	351	c.268G>T	c.(268-270)Gac>Tac	p.D90Y	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	90										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGATAAGTCTACGCCTTCG	0.438													29	135					2.65835e-16	2.89119e-16	1	0	A	142596802	C	A	142596802	3	1	335	1	0	0	0	0	1	0	0	0	15082	913	32	2	161	2	SPANXN3	23	142596802	Missense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	1613728	142596802	12673758	122	62117											
VAMP7	6845	broad.mit.edu	37	chrX	155171682	155171682	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaagcaatccatgtgactCaagcctttcacatactgaca	15	10	5	11	0	2	2	2	2	0	0	3	2	3	2	2	0	3	1	2	0	5	3			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:155171682C>G	ENST00000262640.6	+	7	745	c.662C>G	c.(661-663)tCa>tGa	p.S221*	VAMP7_ENST00000286448.6_3'UTR	NM_001185183.1	NP_001172112.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	0					calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCATGTGACTCAAGCCTTTCA	0.393													9	21					0	0	0	0	G	155171682	C	G	155171682	4	3	335	1	0	0	0	0	0	1	0	0	17213	838	29	2	756	2	VAMP7	23	155171682	Nonsense_Mutation	SNP	C	TCGA-CV-A45V-01A-21D-A25D-08	12574880	155171682	98878	123	62118											
ACAP3	116983	broad.mit.edu	37	chr1	1233269	1233269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgcacagcctggaccCaggcttgccgcagcttctcg	5	8	12	16	2	1	0	0	0	1	0	2	1	1	1	4	3	4	4	4	3	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:1233269C>A	ENST00000354700.5	-	14	1263	c.1061G>T	c.(1060-1062)tGg>tTg	p.W354L	ACAP3_ENST00000353662.3_Missense_Mutation_p.W312L|ACAP3_ENST00000379037.2_5'UTR	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	354	PH.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGCCTGGACCCAGGCTTGCCG	0.701													8	43					0.0381472	0.0391651	1	0	A	1233269	C	A	1233269	3	1	336	1	0	0	0	0	1	0	0	0	120	595	21	4	1487	4	ACAP3	1	1233269	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08		1233269	248017352	1	62119											
ACTRT2	140625	broad.mit.edu	37	chr1	2938651	2938651	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcgagaacttcggcgtgcCcgctttctacctgtcggacc	5	11	11	14	5	1	1	0	0	1	1	4	3	1	2	3	2	3	2	3	2	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:2938651C>A	ENST00000378404.2	+	1	606	c.401C>A	c.(400-402)cCc>cAc	p.P134H		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	134						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TTCGGCGTGCCCGCTTTCTAC	0.632													5	58					0.000602214	0.000673014	1	0	A	2938651	C	A	2938651	3	1	336	1	0	0	0	0	1	0	0	0	219	623	22	4	403	4	ACTRT2	1	2938651	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1705382	2938651	246311970	2	62120											
VPS13D	55187	broad.mit.edu	37	chr1	12557595	12557595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaaccgcgttgctgcacggGgccccaggggctgcttcccc	5	6	14	16	3	0	0	0	0	0	0	1	1	1	0	5	4	4	5	5	4	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:12557595G>T	ENST00000358136.3	+	68	12834	c.12704G>T	c.(12703-12705)gGg>gTg	p.G4235V	VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_Missense_Mutation_p.G233V|VPS13D_ENST00000356315.4_Missense_Mutation_p.G4210V|VPS13D_ENST00000543710.1_Missense_Mutation_p.G39V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4234					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGCTGCACGGGGCCCCAGGGG	0.502													8	43					4.68919e-08	6.23169e-08	1	0	T	12557595	G	T	12557595	3	4	336	1	0	0	0	0	1	0	0	0	17288	1232	43	4	12970	4	VPS13D	1	12557595	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	9618944	12557595	236693026	3	62121											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855707	12855707	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcatctgaatctcagctaCgtgctgctgttccgcatcag	9	11	9	12	2	3	1	2	1	2	0	5	1	4	1	1	0	5	6	1	0	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:12855707C>T	ENST00000332296.7	+	4	1090	c.987C>T	c.(985-987)taC>taT	p.Y329Y	PRAMEF1_ENST00000400814.3_Silent_p.Y84Y	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	329										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCAGCTACGTGCTGCTGT	0.488													9	166					0	0	0	0	T	12855707	C	T	12855707	2	4	336	1	0	0	0	0	0	0	0	1	12501	547	19	1		1	PRAMEF1	1	12855707	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	298112	12855707	236394914	4	62122											
EPHA2	1969	broad.mit.edu	37	chr1	16475422	16475422	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcaatgaagatacgctCagcctctcctcggtacaccc	10	8	8	15	2	3	2	2	1	1	1	5	3	3	2	3	1	4	3	3	1	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:16475422C>A	ENST00000358432.5	-	3	428	c.274G>T	c.(274-276)Gag>Tag	p.E92*	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	92					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AAGATACGCTCAGCCTCTCCT	0.537													13	67					1.49906e-05	1.79976e-05	1	0	A	16475422	C	A	16475422	4	1	336	1	0	0	0	0	0	1	0	0	5205	835	29	2	2716	2	EPHA2	1	16475422	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	3619715	16475422	232775199	5	62123											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18023700	18023700	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaccccgacatctgggtgcGcagccggccctgcgcccgcg	4	4	14	19	7	1	0	0	0	1	0	1	2	1	0	5	2	3	1	5	2	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:18023700G>C	ENST00000361221.3	+	29	3824	c.3665G>C	c.(3664-3666)cGc>cCc	p.R1222P	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R1183P|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R925P|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R995P|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R1183P	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1222					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ATCTGGGTGCGCAGCCGGCCC	0.682													6	41					0	0	0	0	C	18023700	G	C	18023700	3	2	336	1	0	0	0	0	1	0	0	0	897	1087	38	3	3775	3	ARHGEF10L	1	18023700	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1548278	18023700	231226921	6	62124											
CDC42	998	broad.mit.edu	37	chr1	22418000	22418000	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagagccgcaggtgtgTgctgctatgaacatctctcc	10	9	12	10	1	1	3	0	1	1	2	3	4	2	3	2	1	4	3	2	1	4	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:22418000T>G	ENST00000344548.3	+	7	817	c.566T>G	c.(565-567)gTg>gGg	p.V189G	CDC42_ENST00000400259.1_Missense_Mutation_p.V189G|CDC42_ENST00000421089.2_Missense_Mutation_p.V231G	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	189					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		CGCAGGTGTGTGCTGCTATGA	0.418													14	55					0	0	0	0	G	22418000	T	G	22418000	3	3	336	1	0	0	0	0	1	0	0	0	3100	1696	59	5	678	5	CDC42	1	22418000	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	4394300	22418000	226832621	7	62125											
KDM1A	23028	broad.mit.edu	37	chr1	23383993	23383993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggatcgtgtgggtggacGagttgccacatttcgcaaag	10	9	14	8	3	0	0	0	0	0	0	2	3	0	2	1	3	1	2	1	3	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:23383993G>T	ENST00000400181.4	+	8	1111	c.1007G>T	c.(1006-1008)cGa>cTa	p.R336L	KDM1A_ENST00000542151.1_Missense_Mutation_p.R336L|KDM1A_ENST00000356634.3_Missense_Mutation_p.R316L|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	316	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GTGGGTGGACGAGTTGCCACA	0.428													6	41					0.0293803	0.0303184	1	0	T	23383993	G	T	23383993	3	4	336	1	0	0	0	0	1	0	0	0	8175	1058	37	3	1037	3	KDM1A	1	23383993	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	965993	23383993	225866628	8	62126											
SMPDL3B	27293	broad.mit.edu	37	chr1	28282338	28282338	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagttcttcgggcaccaCcacaccgacagctttcggat	8	8	11	14	3	1	0	0	0	1	0	3	2	1	1	3	3	1	4	3	3	0	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:28282338C>G	ENST00000373894.3	+	6	1025	c.834C>G	c.(832-834)caC>caG	p.H278Q	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.H230Q|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.H278Q|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	278					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TCGGGCACCACCACACCGACA	0.562													6	53					0	0	0	0	G	28282338	C	G	28282338	3	3	336	1	0	0	0	0	1	0	0	0	14897	506	18	4	856	4	SMPDL3B	1	28282338	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	4898345	28282338	220968283	9	62127											
CSMD2	114784	broad.mit.edu	37	chr1	34180272	34180272	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctccagacggtacccGgggaagcaggagaaggtcaa	11	4	15	11	2	1	2	1	0	0	2	2	4	2	3	3	5	3	2	3	5	4	1	rs145807635		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:34180272G>C	ENST00000373381.4	-	21	3497	c.3321C>G	c.(3319-3321)ccC>ccG	p.P1107P		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1067	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACGGTACCCGGGGAAGCAGG	0.662													75	175					0	0	0	0	C	34180272	G	C	34180272	2	2	336	1	0	0	0	0	0	0	0	1	3977	1103	39	3		3	CSMD2	1	34180272	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	5897934	34180272	215070349	10	62128											
COL9A2	1298	broad.mit.edu	37	chr1	40768857	40768857	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtcagtggcatcccggcCctgaaagcagaggcctttca	8	8	12	13	1	2	2	2	1	0	1	3	2	3	2	3	4	1	2	3	4	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:40768857C>T	ENST00000372748.3	-	29	1645	c.1548_splice	c.e29-1	p.G517_splice	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	517	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GCATCCCGGCCCTGAAAGCAG	0.632													3	18					0	0	0	0	T	40768857	C	T	40768857	5	4	336	1	0	0	0	0	0	0	1	0	3738	637	22	4	536	4	COL9A2	1	40768857	Splice_Site	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	6588585	40768857	208481764	11	62129											
HIVEP3	59269	broad.mit.edu	37	chr1	42048654	42048654	+	Frame_Shift_Del	DEL	C	C	-																															tctttgctgcttgggccaggCtcctcagaactgtattcccc																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:42048654delC	ENST00000372584.1	-	3	2829	c.1815delG	c.(1813-1815)gafs	p.E605fs	HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.E605fs|HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.E605fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.E605fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	605	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)				TTGGGCCAGGCTCCTCAGAAC	0.552													20	101	---	---	---	---					-	42048654	C	-	42048654	7	5	336	1	0	1	0	1	0	0	0	0	7238	796	28	0	5429	0	HIVEP3	1	42048654	Frame_Shift_Del	DEL	C	TCGA-CV-A45W-01A-11D-A25D-08	1279797	42048654	207201967	12	62130											
SERBP1	26135	broad.mit.edu	37	chr1	67880878	67880878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgccacggtttgggcGcccaccacgcccacgtccac	5	6	10	20	4	0	0	0	0	0	0	1	0	1	0	6	2	2	2	6	2	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:67880878G>A	ENST00000370994.4	-	7	1192	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	SERBP1_ENST00000361219.6_Missense_Mutation_p.R366C|SERBP1_ENST00000370990.5_Missense_Mutation_p.R375C|SERBP1_ENST00000370995.2_Missense_Mutation_p.R381C	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	381					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CGGTTTGGGCGCCCACCACGC	0.517													12	87					0	0	0	0	A	67880878	G	A	67880878	3	1	336	1	0	0	0	0	1	0	0	0	14162	1087	38	1	93	1	SERBP1	1	67880878	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	25832224	67880878	181369743	13	62131											
DEPDC1	55635	broad.mit.edu	37	chr1	68943583	68943583	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aactttttgctcatcaaactCctgagcactaatctgcttac	11	14	4	12	0	3	1	2	1	1	0	4	1	4	1	1	0	6	3	1	0	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:68943583C>A	ENST00000456315.2	-	11	2299	c.2185G>T	c.(2185-2187)Gag>Tag	p.E729*	DEPDC1_ENST00000370966.5_Nonsense_Mutation_p.E445*	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	729					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TCATCAAACTCCTGAGCACTA	0.348													25	143					4.72057e-08	6.26309e-08	1	0	A	68943583	C	A	68943583	4	1	336	1	0	0	0	0	0	1	0	0	4476	864	30	2	258	2	DEPDC1	1	68943583	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1062705	68943583	180307038	14	62132											
LRRIQ3	127255	broad.mit.edu	37	chr1	74648348	74648348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatccagcgctttgagaggCcatatactgttaacaagaac	13	10	9	9	1	0	3	0	2	0	2	1	4	1	3	2	1	4	2	2	1	5	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:74648348C>A	ENST00000354431.4	-	3	638	c.447G>T	c.(445-447)tgG>tgT	p.W149C	LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.W149C|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.W149C	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	149	LRRCT.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTTGAGAGGCCATATACTGT	0.388													6	77					0.217242	0.218867	1	0	A	74648348	C	A	74648348	3	1	336	1	0	0	0	0	1	0	0	0	9094	740	26	4	1451	4	LRRIQ3	1	74648348	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	5704765	74648348	174602273	15	62133											
SLC44A5	204962	broad.mit.edu	37	chr1	75672399	75672399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatcatttctttccagatCttcacctgtatatgcagcag	9	15	5	12	0	4	1	2	0	2	1	6	1	6	1	3	0	2	3	3	0	2	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:75672399C>T	ENST00000370855.5	-	24	2166	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N	SLC44A5_ENST00000535611.1_Missense_Mutation_p.D555N|SLC44A5_ENST00000370859.3_Intron	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	685						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CTTTCCAGATCTTCACCTGTA	0.413													11	67					0	0	0	0	T	75672399	C	T	75672399	3	4	336	1	0	0	0	0	1	0	0	0	14727	913	32	2	221	2	SLC44A5	1	75672399	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1024051	75672399	173578222	16	62134											
GBP3	2635	broad.mit.edu	37	chr1	89474698	89474698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctccctctccatcttctCagtcaattgtttcacatgtt	6	17	3	15	0	6	0	3	0	4	0	9	0	6	0	3	0	0	2	3	0	1	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:89474698C>T	ENST00000370481.4	-	10	1811	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	531						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TCCATCTTCTCAGTCAATTGT	0.428													5	64					0	0	0	0	T	89474698	C	T	89474698	3	4	336	1	0	0	0	0	1	0	0	0	6324	835	29	2	204	2	GBP3	1	89474698	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	13802299	89474698	159775923	17	62135			1	95		3	3	43	C		3.958945e-07
GBP3	2635	broad.mit.edu	37	chr1	89474719	89474719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcaattgtttcacatgttCttgataactcttctctttct	8	20	4	9	0	6	1	2	1	4	0	7	1	6	1	0	0	1	2	0	0	2	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:89474719C>T	ENST00000370481.4	-	10	1790	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	524						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTCACATGTTCTTGATAACTC	0.423													9	61					0	0	0	0	T	89474719	C	T	89474719	3	4	336	1	0	0	0	0	1	0	0	0	6324	922	32	2	225	2	GBP3	1	89474719	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	21	89474719	159775902	18	62136			1	95		3	3	43	C		3.958945e-07
GBP3	2635	broad.mit.edu	37	chr1	89474740	89474740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgataactcttctctttctCttccatcatctgctgatact	7	19	3	12	0	5	2	1	2	4	0	8	2	6	2	1	0	3	1	1	0	2	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:89474740C>T	ENST00000370481.4	-	10	1769	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	517						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTCTCTTTCTCTTCCATCATC	0.438													10	58					0	0	0	0	T	89474740	C	T	89474740	3	4	336	1	0	0	0	0	1	0	0	0	6324	922	32	2	246	2	GBP3	1	89474740	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	21	89474740	159775881	19	62137			1	95		3	3	43	C		3.958945e-07
GBP5	115362	broad.mit.edu	37	chr1	89728399	89728399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtctctgtgagagcctGgtcagtctgtaatattgcat	7	15	10	9	1	3	1	1	1	2	1	5	2	4	1	2	1	2	2	2	1	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:89728399G>T	ENST00000343435.5	-	10	1968	c.1432C>A	c.(1432-1434)Cag>Aag	p.Q478K	GBP5_ENST00000370459.3_Missense_Mutation_p.Q478K|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	478						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTGAGAGCCTGGTCAGTCTGT	0.378													10	37					2.68362e-12	3.94248e-12	1	0	T	89728399	G	T	89728399	3	4	336	1	0	0	0	0	1	0	0	0	6326	1357	47	4	340	4	GBP5	1	89728399	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	253659	89728399	159522222	20	62138											
DPYD	1806	broad.mit.edu	37	chr1	98060712	98060712	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatggcatctttattgggTtctggcaaacctaagtaatc	12	13	9	7	0	2	1	0	0	2	1	3	1	2	1	1	3	1	4	1	3	5	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:98060712T>A	ENST00000370192.3	-	9	961	c.861A>T	c.(859-861)gaA>gaT	p.E287D		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	287					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTTTATTGGGTTCTGGCAAAC	0.373													7	58					0	0	0	0	A	98060712	T	A	98060712	3	1	336	1	0	0	0	0	1	0	0	0	4781	1722	60	5	2276	5	DPYD	1	98060712	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	8332313	98060712	151189909	21	62139											
OVGP1	5016	broad.mit.edu	37	chr1	111957433	111957433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccacagccttccttctagGggccactgtattctgtctaa	7	12	9	13	0	3	0	0	0	3	0	4	0	4	0	4	3	1	1	4	3	3	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:111957433G>T	ENST00000369732.3	-	11	1745	c.1690C>A	c.(1690-1692)Cct>Act	p.P564T		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	564					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	p.P564T(1)|p.P628T(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTCCTTCTAGGGGCCACTGTA	0.522													12	109					2.27111e-07	2.94552e-07	1	0	T	111957433	G	T	111957433	3	4	336	1	0	0	0	0	1	0	0	0	11396	1232	43	4	350	4	OVGP1	1	111957433	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	13896721	111957433	137293188	22	62140											
C1orf162	128346	broad.mit.edu	37	chr1	112020707	112020707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccattctgcagactttGaccccattgtctatgctcaa	11	12	6	12	0	3	3	1	1	2	2	3	3	3	3	3	0	3	2	3	0	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:112020707G>T	ENST00000343534.5	+	6	680	c.430G>T	c.(430-432)Gac>Tac	p.D144Y	C1orf162_ENST00000369718.3_Missense_Mutation_p.D119Y|C1orf162_ENST00000464591.1_3'UTR	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	144						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		TGCAGACTTTGACCCCATTGT	0.423													12	72					5.50884e-06	6.76465e-06	1	0	T	112020707	G	T	112020707	3	4	336	1	0	0	0	0	1	0	0	0	2029	1290	45	2	448	2	C1orf162	1	112020707	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	63274	112020707	137229914	23	62141											
MOV10	4343	broad.mit.edu	37	chr1	113232688	113232688	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accggaaaccctgtggtgacCaatcggatagaggaaggaga	14	5	14	8	2	0	3	0	1	0	2	1	7	0	6	3	5	1	0	3	5	4	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:113232688C>G	ENST00000369644.1	+	6	1665	c.636C>G	c.(634-636)acC>acG	p.T212T	MOV10_ENST00000369645.1_Silent_p.T268T|MOV10_ENST00000357443.2_Silent_p.T268T|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Silent_p.T268T			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	268					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTGTGGTGACCAATCGGATAG	0.622													15	61					0	0	0	0	G	113232688	C	G	113232688	2	3	336	1	0	0	0	0	0	0	0	1	9788	581	21	4		4	MOV10	1	113232688	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1211981	113232688	136017933	24	62142											
SYCP1	6847	broad.mit.edu	37	chr1	115468961	115468961	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgaagaacttcagcaggaGgtatgtattttttataaata	15	15	8	3	0	1	2	1	1	0	1	1	3	1	3	0	2	2	3	0	2	8	9			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:115468961G>C	ENST00000369522.3	+	22	2103	c.1863_splice	c.e22+1	p.E621_splice	SYCP1_ENST00000369518.1_Splice_Site_p.E621_splice	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	621					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		TTCAGCAGGAGGTATGTATTT	0.259													3	14					0	0	0	0	C	115468961	G	C	115468961	5	2	336	1	0	0	0	0	0	0	1	0	15522	1014	35	4	1945	4	SYCP1	1	115468961	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2236273	115468961	133781660	25	62143											
S100A16	140576	broad.mit.edu	37	chr1	153580603	153580603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggacaatgactgccttctCcagctccgtgtagcagtctg	8	10	10	13	1	2	1	0	1	2	0	4	2	3	2	3	1	3	3	3	1	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:153580603C>T	ENST00000368704.1	-	2	210	c.25G>A	c.(25-27)Gag>Aag	p.E9K	S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368705.2_Missense_Mutation_p.E9K|S100A16_ENST00000368706.4_Missense_Mutation_p.E9K|S100A16_ENST00000368703.2_Missense_Mutation_p.E9K			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	9						cytosol|nucleolus	calcium ion binding|protein homodimerization activity			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTGCCTTCTCCAGCTCCGTG	0.547													6	58					0	0	0	0	T	153580603	C	T	153580603	3	4	336	1	0	0	0	0	1	0	0	0	13862	864	30	2	294	2	S100A16	1	153580603	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	38111642	153580603	95670018	26	62144											
UBAP2L	9898	broad.mit.edu	37	chr1	154226498	154226498	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctctttatgaacagagatCcacacagactcggcggtacc	11	8	8	14	2	1	3	0	1	1	2	3	4	2	3	3	2	2	1	3	2	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:154226498C>A	ENST00000428931.1	+	15	1954	c.1787C>A	c.(1786-1788)tCc>tAc	p.S596Y	UBAP2L_ENST00000343815.6_Missense_Mutation_p.S596Y|UBAP2L_ENST00000361546.2_Missense_Mutation_p.S596Y|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S607Y	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	596					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAACAGAGATCCACACAGACT	0.502													6	61					0.0293803	0.0303184	1	0	A	154226498	C	A	154226498	3	1	336	1	0	0	0	0	1	0	0	0	16934	855	30	2	1841	2	UBAP2L	1	154226498	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	645895	154226498	95024123	27	62145											
ARHGEF11	9826	broad.mit.edu	37	chr1	156933337	156933337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgaaataacccgggtcaTagtcttcctctgggccaata	10	12	9	10	1	3	1	1	1	2	0	4	1	4	1	3	2	1	1	3	2	5	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:156933337T>C	ENST00000368194.3	-	12	2052	c.1013A>G	c.(1012-1014)tAt>tGt	p.Y338C	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.Y298C	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	298	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCCGGGTCATAGTCTTCCTC	0.428													9	83					0	0	0	0	C	156933337	T	C	156933337	3	2	336	1	0	0	0	0	1	0	0	0	898	1406	49	5	3795	5	ARHGEF11	1	156933337	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	2706839	156933337	92317284	28	62146											
FCRL3	115352	broad.mit.edu	37	chr1	157665964	157665964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggaacgctgggtctttCtacccaggcttcttactctt	7	13	9	12	1	4	0	0	0	4	0	4	1	4	1	1	3	3	2	1	3	3	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:157665964C>A	ENST00000368184.3	-	7	1289	c.998G>T	c.(997-999)aGa>aTa	p.R333I	FCRL3_ENST00000368186.5_Missense_Mutation_p.R333I|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	333	Ig-like C2-type 4.					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)					CTGGGTCTTTCTACCCAGGCT	0.502													11	81					9.70103e-10	1.37516e-09	1	0	A	157665964	C	A	157665964	3	1	336	1	0	0	0	0	1	0	0	0	5841	913	32	2	1242	2	FCRL3	1	157665964	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	732627	157665964	91584657	29	62147											
CD1A	909	broad.mit.edu	37	chr1	158224881	158224881	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgtcgcagggctcaaGgagcctctctccttccatgt	5	14	9	13	1	3	0	1	0	2	0	7	1	5	1	3	2	1	2	3	2	1	3	rs3087217		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:158224881G>C	ENST00000289429.5	+	2	599	c.66G>C	c.(64-66)aaG>aaC	p.K22N		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	22			K -> N (in dbSNP:rs3087217).		antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAGGGCTCAAGGAGCCTCTCT	0.478													12	88					0	0	0	0	C	158224881	G	C	158224881	3	2	336	1	0	0	0	0	1	0	0	0	3003	991	35	4	72	4	CD1A	1	158224881	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	558917	158224881	91025740	30	62148											
CD1A	909	broad.mit.edu	37	chr1	158225912	158225912	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcttccagaacaattcatgGttgccatatccagtggctgg	10	11	10	10	0	1	1	1	0	0	1	3	1	3	1	3	3	3	3	3	3	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:158225912G>A	ENST00000289429.5	+	3	977	c.444G>A	c.(442-444)tgG>tgA	p.W148*		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	148					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACAATTCATGGTTGCCATATC	0.448													16	91					0	0	0	0	A	158225912	G	A	158225912	4	1	336	1	0	0	0	0	0	1	0	0	3003	1270	44	4	454	4	CD1A	1	158225912	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1031	158225912	91024709	31	62149											
CD1B	910	broad.mit.edu	37	chr1	158300693	158300693	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctccttatcactaaagttaCctttagaccaaggcttcagg	11	12	6	12	0	2	1	2	0	0	1	3	1	3	1	4	2	1	2	4	2	6	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:158300693C>G	ENST00000368168.3	-	2	328	c.221G>C	c.(220-222)gGt>gCt	p.G74A		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	74					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACTAAAGTTACCTTTAGACCA	0.473													49	324					0	0	0	0	G	158300693	C	G	158300693	3	3	336	1	0	0	0	0	1	0	0	0	3004	507	18	4	800	4	CD1B	1	158300693	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	74781	158300693	90949928	32	62150											
CASQ1	844	broad.mit.edu	37	chr1	160162614	160162614	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcccaagtcctagaagAcaagggtgttggcttcgggc	10	7	14	10	1	0	2	0	0	0	2	2	2	1	2	2	3	2	3	2	3	4	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:160162614A>T	ENST00000368079.3	+	2	559	c.284A>T	c.(283-285)gAc>gTc	p.D95V	CASQ1_ENST00000368078.3_Missense_Mutation_p.D101V	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	101						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCCTAGAAGACAAGGGTGTT	0.493											OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	169					0	0	0	0	T	160162614	A	T	160162614	3	4	336	1	0	0	0	0	1	0	0	0	2705	275	10	5	308	5	CASQ1	1	160162614	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	1861921	160162614	89088007	33	62151											
LY9	4063	broad.mit.edu	37	chr1	160784328	160784328	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagagaaggttgtctggttGtttaacacatccatcattag	12	13	9	7	0	2	1	1	0	1	1	3	2	3	1	1	2	1	3	1	2	3	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:160784328G>A	ENST00000263285.5	+	4	879	c.849G>A	c.(847-849)ttG>ttA	p.L283L	LY9_ENST00000341032.4_Silent_p.L283L|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368035.1_5'UTR|LY9_ENST00000368041.2_Silent_p.L243L	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	283	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTGTCTGGTTGTTTAACACAT	0.542													13	96					0	0	0	0	A	160784328	G	A	160784328	2	1	336	1	0	0	0	0	0	0	0	1	9166	1368	48	4		4	LY9	1	160784328	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	621714	160784328	88466293	34	62152											
CD244	51744	broad.mit.edu	37	chr1	160811021	160811021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgatgggcattctgacagtCctgagtgagattcagggtgt	8	12	14	7	0	2	4	1	4	1	1	3	5	3	4	1	2	0	1	1	2	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:160811021C>T	ENST00000368034.4	-	3	811	c.634G>A	c.(634-636)Gac>Aac	p.D212N	CD244_ENST00000368032.2_Missense_Mutation_p.D212N|CD244_ENST00000368033.3_Missense_Mutation_p.D217N|CD244_ENST00000322302.7_Intron	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	217	Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTCTGACAGTCCTGAGTGAGA	0.512													9	62					0	0	0	0	T	160811021	C	T	160811021	3	4	336	1	0	0	0	0	1	0	0	0	3016	855	30	2	491	2	CD244	1	160811021	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	26693	160811021	88439600	35	62153											
DPT	1805	broad.mit.edu	37	chr1	168698251	168698251	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcacggccactatcacCtgcccctggggacactggta	7	8	9	17	1	2	0	2	0	0	0	3	1	3	1	5	4	1	1	5	4	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:168698251C>A	ENST00000367817.3	-	1	251	c.162G>T	c.(160-162)caG>caT	p.Q54H		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	54	2 X 53-55 AA tandem repeats.				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CCACTATCACCTGCCCCTGGG	0.552													12	72					6.40141e-05	7.46369e-05	1	0	A	168698251	C	A	168698251	3	1	336	1	0	0	0	0	1	0	0	0	4775	680	24	4	459	4	DPT	1	168698251	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	7887230	168698251	80552370	36	62154											
KIFAP3	22920	broad.mit.edu	37	chr1	170015866	170015866	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttaccttttcctgacaaTgaatcacggcggttctgtag	9	14	8	10	2	2	2	1	2	1	0	3	2	3	2	2	2	2	2	2	2	5	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:170015866T>A	ENST00000367765.1	-	3	1687	c.186A>T	c.(184-186)tcA>tcT	p.S62S	KIFAP3_ENST00000361580.2_Silent_p.S102S|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000367767.1_Silent_p.S58S|KIFAP3_ENST00000538366.1_5'UTR	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	102					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCCTGACAATGAATCACGGC	0.368													24	79					0	0	0	0	A	170015866	T	A	170015866	2	1	336	1	0	0	0	0	0	0	0	1	8362	1451	51	5		5	KIFAP3	1	170015866	Silent	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	1317615	170015866	79234755	37	62155											
TNN	63923	broad.mit.edu	37	chr1	175046646	175046646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagccactctggagcctcCcggctgcagcaacaaggagc	9	4	11	17	1	1	0	0	0	1	0	2	2	2	2	4	3	6	3	4	3	2	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:175046646C>A	ENST00000239462.4	+	2	205	c.92C>A	c.(91-93)cCc>cAc	p.P31H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	31					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGGAGCCTCCCGGCTGCAGC	0.597													17	100					4.14922e-12	6.07349e-12	1	0	A	175046646	C	A	175046646	3	1	336	1	0	0	0	0	1	0	0	0	16417	623	22	4	94	4	TNN	1	175046646	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	5030780	175046646	74203975	38	62156											
TNR	7143	broad.mit.edu	37	chr1	175360426	175360426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggttggaggcactcacctGtggagacgctggccgaggta	8	7	17	9	2	1	1	1	0	0	1	1	4	1	2	2	6	0	4	2	6	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:175360426G>A	ENST00000367674.1	-	7	2213	c.1505C>T	c.(1504-1506)aCa>aTa	p.T502I	TNR_ENST00000263525.2_Missense_Mutation_p.T502I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	502	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCACTCACCTGTGGAGACGCT	0.542													15	81					0	0	0	0	A	175360426	G	A	175360426	3	1	336	1	0	0	0	0	1	0	0	0	16432	1377	48	4	2639	4	TNR	1	175360426	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	313780	175360426	73890195	39	62157											
TNR	7143	broad.mit.edu	37	chr1	175375398	175375398	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgttgcactggtctcgCagcaccgacacctccctctc	5	10	9	17	3	2	0	0	0	2	0	5	1	3	0	3	2	2	4	3	2	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:175375398C>A	ENST00000367674.1	-	3	1161	c.453G>T	c.(451-453)ctG>ctT	p.L151L	TNR_ENST00000263525.2_Silent_p.L151L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	151					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTGGTCTCGCAGCACCGACA	0.617													22	68					5.26018e-13	7.8273e-13	1	0	A	175375398	C	A	175375398	2	1	336	1	0	0	0	0	0	0	0	1	16432	697	25	4		4	TNR	1	175375398	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	14972	175375398	73875223	40	62158											
TNR	7143	broad.mit.edu	37	chr1	175375691	175375691	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctttgctggatgtgttgtAgttggcaatgcctccctcct	4	16	10	11	0	1	0	0	0	1	0	3	1	3	1	3	2	2	5	3	2	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:175375691A>T	ENST00000367674.1	-	3	868	c.160T>A	c.(160-162)Tac>Aac	p.Y54N	TNR_ENST00000263525.2_Missense_Mutation_p.Y54N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	54					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GATGTGTTGTAGTTGGCAATG	0.552													15	188					0	0	0	0	T	175375691	A	T	175375691	3	4	336	1	0	0	0	0	1	0	0	0	16432	420	15	5	4000	5	TNR	1	175375691	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	293	175375691	73874930	41	62159											
PAPPA2	60676	broad.mit.edu	37	chr1	176760565	176760565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaaggagaatgcccaccacCcccctcagagctgaattctg	11	6	9	15	0	2	3	1	1	1	2	2	4	2	3	5	1	2	2	5	1	3	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:176760565C>A	ENST00000367662.3	+	19	6131	c.4967C>A	c.(4966-4968)cCc>cAc	p.P1656H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1656	Poly-Pro.|Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCCCACCACCCCCCTCAGAG	0.428													17	44					3.41278e-10	4.8548e-10	1	0	A	176760565	C	A	176760565	3	1	336	1	0	0	0	0	1	0	0	0	11504	623	22	4	5090	4	PAPPA2	1	176760565	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1384874	176760565	72490056	42	62160											
SEC16B	89866	broad.mit.edu	37	chr1	177909766	177909766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagctgcctccgaagttgCgctagccaatctggctccag	7	9	10	15	2	1	0	0	0	1	0	4	1	4	0	5	1	4	4	5	1	3	2	rs34633883		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:177909766C>T	ENST00000308284.6	-	17	2195	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	702					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCCGAAGTTGCGCTAGCCAAT	0.567													4	25					0	0	0	0	T	177909766	C	T	177909766	2	4	336	1	0	0	0	0	0	0	0	1	14074	755	27	1		1	SEC16B	1	177909766	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1149201	177909766	71340855	43	62161											
SEC16B	89866	broad.mit.edu	37	chr1	177928091	177928091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggcaaaacgtcataatatCcaccttatgtacatcttccc	12	12	4	13	1	2	0	1	0	1	0	4	0	4	0	3	1	2	2	3	1	6	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:177928091C>T	ENST00000308284.6	-	9	1107	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.D341N	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	340					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTCATAATATCCACCTTATGT	0.498													5	17					0	0	0	0	T	177928091	C	T	177928091	3	4	336	1	0	0	0	0	1	0	0	0	14074	855	30	2	2236	2	SEC16B	1	177928091	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	18325	177928091	71322530	44	62162											
SEC16B	89866	broad.mit.edu	37	chr1	177937011	177937011	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgccaagagtgagggaCaggccgatgatgtccatctc	10	9	13	9	1	1	3	0	2	1	1	3	5	2	4	3	2	1	0	3	2	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:177937011C>G	ENST00000308284.6	-	2	195	c.106G>C	c.(106-108)Gtc>Ctc	p.V36L	RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.V36L|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.V36L	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	36	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GAGTGAGGGACAGGCCGATGA	0.607													8	60					0	0	0	0	G	177937011	C	G	177937011	3	3	336	1	0	0	0	0	1	0	0	0	14074	478	17	4	3176	4	SEC16B	1	177937011	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	8920	177937011	71313610	45	62163											
FAM20B	9917	broad.mit.edu	37	chr1	179033207	179033207	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caccgtcacccatggggcagGacttaccgagaaggcaaatt	12	6	11	12	2	1	1	1	0	0	1	1	3	1	2	3	4	1	2	3	4	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:179033207G>C	ENST00000263733.4	+	5	1056	c.720G>C	c.(718-720)agG>agC	p.R240S		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	240						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CATGGGGCAGGACTTACCGAG	0.527													16	92					0	0	0	0	C	179033207	G	C	179033207	3	2	336	1	0	0	0	0	1	0	0	0	5581	1165	41	2	734	2	FAM20B	1	179033207	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1096196	179033207	70217414	46	62164											
HMCN1	83872	broad.mit.edu	37	chr1	186062643	186062643	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctacaattaggggtaataaAgatgaagcagagaaactaat	19	8	9	5	0	0	3	0	1	0	2	0	4	0	3	1	2	3	2	1	2	9	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:186062643A>C	ENST00000271588.4	+	66	10267	c.10038A>C	c.(10036-10038)aaA>aaC	p.K3346N	HMCN1_ENST00000367492.2_Missense_Mutation_p.K3346N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3346	Ig-like C2-type 32.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGGGTAATAAAGATGAAGCAG	0.378													13	114					0	0	0	0	C	186062643	A	C	186062643	3	2	336	1	0	0	0	0	1	0	0	0	7270	69	3	5	10300	5	HMCN1	1	186062643	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	7029436	186062643	63187978	47	62165											
CFHR2	3080	broad.mit.edu	37	chr1	196928019	196928019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctactttcagatccatgtGtaatatcacaagaaattatg	14	15	5	7	0	3	2	2	0	1	2	4	2	4	2	1	0	1	1	1	0	6	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:196928019G>T	ENST00000367415.4	+	5	736	c.622G>T	c.(622-624)Gta>Tta	p.V208L	CFHR2_ENST00000367421.3_Missense_Mutation_p.V208L|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	208	Sushi 4.					extracellular region		p.V208I(1)		large_intestine(2)|ovary(1)|skin(3)	6						AGATCCATGTGTAATATCACA	0.279													6	25					0.00116845	0.00129152	1	0	T	196928019	G	T	196928019	3	4	336	1	0	0	0	0	1	0	0	0	3314	1377	48	4	640	4	CFHR2	1	196928019	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	10865376	196928019	52322602	48	62166											
CRB1	23418	broad.mit.edu	37	chr1	197326133	197326133	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtctgtatctgtcagccTggattcacaggtgaggccaa	9	12	11	9	0	4	1	2	1	2	0	4	2	4	2	2	3	1	1	2	3	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:197326133T>C	ENST00000367400.3	+	5	1296	c.1161T>C	c.(1159-1161)ccT>ccC	p.P387P	CRB1_ENST00000543483.1_Silent_p.P86P|CRB1_ENST00000538660.1_Silent_p.P387P|CRB1_ENST00000367399.2_Silent_p.P275P|CRB1_ENST00000535699.1_Silent_p.P318P	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	387	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTGTCAGCCTGGATTCACAG	0.468													20	50					0	0	0	0	C	197326133	T	C	197326133	2	2	336	1	0	0	0	0	0	0	0	1	3878	1567	55	5		5	CRB1	1	197326133	Silent	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	398114	197326133	51924488	49	62167											
LAD1	3898	broad.mit.edu	37	chr1	201356286	201356286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtggcttgggcacctctGcttcttccacgctcggtagt	4	12	12	13	2	2	0	0	0	2	0	4	0	3	0	2	3	1	6	2	3	1	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:201356286G>A	ENST00000391967.2	-	3	504	c.203C>T	c.(202-204)gCa>gTa	p.A68V	LAD1_ENST00000367313.3_Missense_Mutation_p.A82V	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	68						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGGCACCTCTGCTTCTTCCAC	0.557													10	56					0	0	0	0	A	201356286	G	A	201356286	3	1	336	1	0	0	0	0	1	0	0	0	8652	1319	46	4	1382	4	LAD1	1	201356286	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	4030153	201356286	47894335	50	62168											
SNRPE	6635	broad.mit.edu	37	chr1	203834232	203834232	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattcattctaaaacaaagTcaagaaaacaactgggtaag	20	8	7	6	0	3	2	2	0	1	2	3	2	3	2	0	1	3	1	0	1	8	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:203834232T>A	ENST00000414487.2	+	4	253	c.208T>A	c.(208-210)Tca>Aca	p.S70T	SNRPE_ENST00000367208.1_Missense_Mutation_p.S30T|SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	70					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TAAAACAAAGTCAAGAAAACA	0.318													15	86					0	0	0	0	A	203834232	T	A	203834232	3	1	336	1	0	0	0	0	1	0	0	0	14955	1667	58	5	222	5	SNRPE	1	203834232	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	2477946	203834232	45416389	51	62169											
CD46	4179	broad.mit.edu	37	chr1	207963626	207963627	+	Frame_Shift_Ins	INS	-	-	AAGT																															aactgatgagacccacagagINSaagtaaaatttacttctctc																								rs138502920		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:207963626_207963627insAAGT	ENST00000358170.2	+	13	1312_1313	c.1156_1157insAAGT	c.(1156-1158)agtfs	p.S386fs	CD46_ENST00000367047.1_Intron|CD46_ENST00000367042.1_Frame_Shift_Ins_p.S371fs|CD46_ENST00000441839.2_Intron|CD46_ENST00000367041.1_Frame_Shift_Ins_p.S356fs|CD46_ENST00000322875.4_Intron|CD46_ENST00000357714.1_Intron|CD46_ENST00000322918.5_Intron|CD46_ENST00000361067.1_Intron|CD46_ENST00000354848.1_Intron|CD46_ENST00000469535.1_Intron|CD46_ENST00000480003.1_Intron|CD46_ENST00000360212.2_Intron	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	386					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GACCCACAGAGAAGTAAAATTT	0.351													7	55	---	---	---	---					AAGT	207963627	-	AAGT	207963626	7	5	336	1	0	1	1	0	0	0	0	0	3047	943	33	0	1206	0	CD46	1	207963626	Frame_Shift_Ins	INS	-	TCGA-CV-A45W-01A-11D-A25D-08	4129394	207963626	41286995	52	62170											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209933598	209933598	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcttcaggaggaggaacctgGagctagaggagaagggcaaa	14	5	16	6	0	2	2	1	0	1	2	2	7	2	6	1	6	2	2	1	6	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:209933598G>C	ENST00000367024.1	+	3	730	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E72Q|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E72Q|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E72Q|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E72Q			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	72						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GAGGAACCTGGAGCTAGAGGA	0.612													5	43					0	0	0	0	C	209933598	G	C	209933598	3	2	336	1	0	0	0	0	1	0	0	0	16537	1175	41	2	216	2	TRAF3IP3	1	209933598	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1969972	209933598	39317023	53	62171											
PROX1	5629	broad.mit.edu	37	chr1	214209100	214209100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagaaggccatatacaagGtcatctgcaagctggatagt	14	8	12	7	0	2	1	1	0	1	1	2	3	2	3	1	4	3	2	1	4	7	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:214209100G>T	ENST00000366958.4	+	5	2745	c.2137G>T	c.(2137-2139)Gtc>Ttc	p.V713F	PROX1_ENST00000498508.2_Missense_Mutation_p.V713F|PROX1_ENST00000261454.4_Missense_Mutation_p.V713F|PROX1_ENST00000435016.1_Missense_Mutation_p.V713F	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	713	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CATATACAAGGTCATCTGCAA	0.428													15	37					1.3612e-06	1.71317e-06	1	0	T	214209100	G	T	214209100	3	4	336	1	0	0	0	0	1	0	0	0	12640	1261	44	4	2151	4	PROX1	1	214209100	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	4275502	214209100	35041521	54	62172											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220364471	220364471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgtgtgctccacacttCtaaaattccccttcttggcg	6	14	7	14	1	2	0	0	0	2	0	4	0	4	0	3	1	2	2	3	1	2	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:220364471C>T	ENST00000358951.2	-	14	1542	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	476					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTCCACACTTCTAAAATTCCC	0.478													8	116					0	0	0	0	T	220364471	C	T	220364471	3	4	336	1	0	0	0	0	1	0	0	0	13018	922	32	2	2843	2	RAB3GAP2	1	220364471	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	6155371	220364471	28886150	55	62173											
TAF5L	27097	broad.mit.edu	37	chr1	229738406	229738406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gataaggtagttgtagctgtCttcttggagacggaccacgt	9	12	13	7	2	2	1	0	0	2	1	2	4	2	2	1	3	1	4	1	3	3	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:229738406C>G	ENST00000366675.3	-	4	596	c.508G>C	c.(508-510)Gac>Cac	p.D170H	TAF5L_ENST00000258281.2_Missense_Mutation_p.D170H|TAF5L_ENST00000366676.1_Missense_Mutation_p.D170H	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	170					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TTGTAGCTGTCTTCTTGGAGA	0.468													8	130					0	0	0	0	G	229738406	C	G	229738406	3	3	336	1	0	0	0	0	1	0	0	0	15620	913	32	2	1275	2	TAF5L	1	229738406	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	9373935	229738406	19512215	56	62174											
GALNT2	2590	broad.mit.edu	37	chr1	230401079	230401079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttgctgatggtgtggttgGagtttatgaatgtcacaatg	8	16	13	4	0	1	2	1	2	0	0	1	3	1	3	0	3	1	3	0	3	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:230401079G>A	ENST00000366672.4	+	14	1478	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000543760.1_Missense_Mutation_p.G431E	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	469	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGTGTGGTTGGAGTTTATGAA	0.532													45	240					0	0	0	0	A	230401079	G	A	230401079	3	1	336	1	0	0	0	0	1	0	0	0	6262	1174	41	2	1460	2	GALNT2	1	230401079	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	662673	230401079	18849542	57	62175											
TRIM67	440730	broad.mit.edu	37	chr1	231339746	231339746	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagctggacgacggtgccggGggacagttccgggtgaggcc	6	5	20	10	4	0	1	0	1	0	0	1	5	1	3	3	6	2	2	3	6	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:231339746G>T	ENST00000444294.3	+	6	2520	c.1662G>T	c.(1660-1662)ggG>ggT	p.G554G	TRIM67_ENST00000366652.2_Silent_p.G556G|TRIM67_ENST00000366653.5_Silent_p.G556G|TRIM67_ENST00000449018.3_Silent_p.G494G	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	556	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ACGGTGCCGGGGGACAGTTCC	0.642													5	59					2.0095e-06	2.50954e-06	1	0	T	231339746	G	T	231339746	2	4	336	1	0	0	0	0	0	0	0	1	16635	1219	43	4		4	TRIM67	1	231339746	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	938667	231339746	17910875	58	62176											
SIPA1L2	57568	broad.mit.edu	37	chr1	232619601	232619624	+	In_Frame_Del	DEL	GATCAAGGAATTCTTCAAAAGCTG	GATCAAGGAATTCTTCAAAAGCTG	-																															tcggactctctggcccagaaGatcaaggaattcttcaaaag																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:232619601_232619624delGATCAAGGAATTCTTCAAAAGCTG	ENST00000366630.1	-	5	2253_2276	c.1895_1918delCAGCTTTTGAAGAATTCCTTGATC	c.(1894-1920)ctt>c	p.PAFEEFLDL632del	SIPA1L2_ENST00000262861.4_In_Frame_Del_p.PAFEEFLDL632del			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	632	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGGCCCAGAAGATCAAGGAATTCTTCAAAAGCTGGTCCCGCCGT	0.433													7	84	---	---	---	---					-	232619624	GATCAAGGAATTCTTCAAAAGCTG	-	232619601	7	5	336	1	0	1	0	1	0	0	0	0	14418	942	33	0	3322	0	SIPA1L2	1	232619601	In_Frame_Del	DEL	GATCAAGGAATTCTTCAAAAGCTG	TCGA-CV-A45W-01A-11D-A25D-08	1279855	232619601	16631020	59	62177											
PCNXL2	80003	broad.mit.edu	37	chr1	233334708	233334708	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgcactgaagcagactgCgtggagcagggcggcagcca	10	4	15	12	2	0	2	0	1	0	1	0	3	0	3	1	3	5	4	1	3	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:233334708C>G	ENST00000258229.8	-	15	3277	c.3043G>C	c.(3043-3045)Gca>Cca	p.A1015P	PCNXL2_ENST00000488780.2_Missense_Mutation_p.A148P	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1015						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AAGCAGACTGCGTGGAGCAGG	0.468													3	12					0	0	0	0	G	233334708	C	G	233334708	3	3	336	1	0	0	0	0	1	0	0	0	11663	768	27	3	3450	3	PCNXL2	1	233334708	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	715107	233334708	15915913	60	62178											
RYR2	6262	broad.mit.edu	37	chr1	237754126	237754126	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctttttgggcccaagAatgacttggaagattatgat	10	13	11	7	0	0	4	0	2	0	2	0	5	0	5	2	3	0	0	2	3	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:237754126A>C	ENST00000366574.2	+	31	4311	c.3994A>C	c.(3994-3996)Aat>Cat	p.N1332H	RYR2_ENST00000542537.1_Missense_Mutation_p.N1316H|RYR2_ENST00000360064.6_Missense_Mutation_p.N1330H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1332	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGGCCCAAGAATGACTTGGA	0.517													6	95					0	0	0	0	C	237754126	A	C	237754126	3	2	336	1	0	0	0	0	1	0	0	0	13854	246	9	5	4116	5	RYR2	1	237754126	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	4419418	237754126	11496495	61	62179											
RYR2	6262	broad.mit.edu	37	chr1	237777748	237777748	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtaagcattagtaatGaatgttaccagtacagtcca	13	14	8	6	0	0	1	0	1	0	0	1	1	1	1	2	0	3	6	2	0	6	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:237777748G>T	ENST00000366574.2	+	37	5637	c.5320G>T	c.(5320-5322)Gaa>Taa	p.E1774*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E1758*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E1772*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1774	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATTAGTAATGAATGTTACCA	0.498													26	104					1.64293e-13	2.46288e-13	1	0	T	237777748	G	T	237777748	4	4	336	1	0	0	0	0	0	1	0	0	13854	1291	45	2	5466	2	RYR2	1	237777748	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	23622	237777748	11472873	62	62180											
FMN2	56776	broad.mit.edu	37	chr1	240255953	240255953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagctcgggctcggacacgGacatctatagcttccattcg	8	9	10	14	4	1	0	0	0	1	0	5	2	2	2	2	3	2	3	2	3	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:240255953G>T	ENST00000319653.9	+	1	774	c.544G>T	c.(544-546)Gac>Tac	p.D182Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	182					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.D325Y(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCGGACACGGACATCTATAG	0.632													5	74					0.014758	0.0154462	1	0	T	240255953	G	T	240255953	3	4	336	1	0	0	0	0	1	0	0	0	5995	1174	41	2	546	2	FMN2	1	240255953	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2478205	240255953	8994668	63	62181											
OR2T8	343172	broad.mit.edu	37	chr1	248084547	248084547	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctggtttccaccactgtGcccaaaatggcggctgacta	9	10	10	12	1	0	1	0	1	0	0	1	1	1	1	3	3	2	3	3	3	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248084547G>T	ENST00000319968.4	+	1	228	c.228G>T	c.(226-228)gtG>gtT	p.V76V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCACCACTGTGCCCAAAATGG	0.577													22	165					1.68575e-08	2.27394e-08	1	0	T	248084547	G	T	248084547	2	4	336	1	0	0	0	0	0	0	0	1	11101	1306	46	4		4	OR2T8	1	248084547	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	7828594	248084547	1166074	64	62182											
OR2T8	343172	broad.mit.edu	37	chr1	248085145	248085145	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaggttgtgtcagccttcTatactatgttcaccccttta	9	15	6	11	0	3	0	2	0	1	0	3	0	3	0	3	1	2	2	3	1	5	8			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248085145T>G	ENST00000319968.4	+	1	826	c.826T>G	c.(826-828)Tat>Gat	p.Y276D		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTCAGCCTTCTATACTATGTT	0.493													14	184					0	0	0	0	G	248085145	T	G	248085145	3	3	336	1	0	0	0	0	1	0	0	0	11101	1522	53	5	828	5	OR2T8	1	248085145	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	598	248085145	1165476	65	62183											
OR2AK2	391191	broad.mit.edu	37	chr1	248129316	248129316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgctactaccattcctagCcattctggcttcctatgctc	6	15	5	15	0	1	0	0	0	1	0	4	0	3	0	4	1	5	3	4	1	4	8			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248129316C>T	ENST00000366480.3	+	1	782	c.683C>T	c.(682-684)gCc>gTc	p.A228V	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCATTCCTAGCCATTCTGGCT	0.463													19	58					0	0	0	0	T	248129316	C	T	248129316	3	4	336	1	0	0	0	0	1	0	0	0	11057	739	26	4	685	4	OR2AK2	1	248129316	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	44171	248129316	1121305	66	62184											
OR2M5	127059	broad.mit.edu	37	chr1	248308798	248308798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgaatgctttctgttggctGttatgtcttatgaccgctat	6	17	9	9	2	2	1	0	1	2	0	2	2	2	1	2	1	1	5	2	1	4	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248308798G>C	ENST00000366476.1	+	1	349	c.349G>C	c.(349-351)Gtt>Ctt	p.V117L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCTGTTGGCTGTTATGTCTTA	0.438													21	498					0	0	0	0	C	248308798	G	C	248308798	3	2	336	1	0	0	0	0	1	0	0	0	11084	1377	48	4	351	4	OR2M5	1	248308798	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	179482	248308798	941823	67	62185											
OR2T12	127064	broad.mit.edu	37	chr1	248458275	248458275	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggggaccaggagcattaaCacacagcagatgtacatggc	15	5	12	9	0	0	1	0	0	0	1	0	3	0	3	1	4	4	3	1	4	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248458275C>T	ENST00000317996.1	-	1	605	c.606G>A	c.(604-606)gtG>gtA	p.V202V		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGAGCATTAACACACAGCAGA	0.542													10	97					0	0	0	0	T	248458275	C	T	248458275	2	4	336	1	0	0	0	0	0	0	0	1	11090	465	17	4		4	OR2T12	1	248458275	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	149477	248458275	792346	68	62186											
OR2M7	391196	broad.mit.edu	37	chr1	248486989	248486989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgctctggtcacttccttGttgcggaggctataaatgag	9	13	11	8	1	2	1	1	1	1	0	3	2	3	2	1	3	2	3	1	3	4	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248486989G>T	ENST00000317965.2	-	1	910	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTTCCTTGTTGCGGAGGC	0.433													17	71					2.23348e-06	2.78496e-06	1	0	T	248486989	G	T	248486989	3	4	336	1	0	0	0	0	1	0	0	0	11085	1368	48	4	59	4	OR2M7	1	248486989	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	28714	248486989	763632	69	62187											
OR2T11	127077	broad.mit.edu	37	chr1	248790290	248790290	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaggcgagagtccaccTgaatcaagaatatcatgacc	13	8	11	9	1	2	4	2	2	0	2	3	6	3	5	3	2	0	0	3	2	4	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248790290T>A	ENST00000330803.2	-	1	201	c.140A>T	c.(139-141)cAg>cTg	p.Q47L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAGTCCACCTGAATCAAGAA	0.498													7	118					0	0	0	0	A	248790290	T	A	248790290	3	1	336	1	0	0	0	0	1	0	0	0	11089	1580	55	5	814	5	OR2T11	1	248790290	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	303301	248790290	460331	70	62188											
OR2T27	403239	broad.mit.edu	37	chr1	248814116	248814116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagggcaaagagaagccaggGgaaacgggcgttgctgaaca	14	3	17	7	2	0	2	0	1	0	1	0	5	0	3	1	4	4	3	1	4	4	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248814116G>A	ENST00000344889.3	-	1	69	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P24S(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAAGCCAGGGGAAACGGGCG	0.493													14	93					0	0	0	0	A	248814116	G	A	248814116	3	1	336	1	0	0	0	0	1	0	0	0	11092	1232	43	4	886	4	OR2T27	1	248814116	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	23826	248814116	436505	71	62189											
RSAD2	91543	broad.mit.edu	37	chr2	7018191	7018191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccagtgcaactacaaatGcggcttctgtttccacacag	10	10	8	13	2	1	0	0	0	1	0	3	0	2	0	2	1	4	3	2	1	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:7018191G>A	ENST00000382040.3	+	1	396	c.260G>A	c.(259-261)tGc>tAc	p.C87Y		NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	87					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AACTACAAATGCGGCTTCTGT	0.522													5	56					0	0	0	0	A	7018191	G	A	7018191	3	1	336	1	0	0	0	0	1	0	0	0	13780	1319	46	4	262	4	RSAD2	2	7018191	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08		7018191	236181182	72	62190											
GREB1	9687	broad.mit.edu	37	chr2	11718489	11718489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccagccctggagagcaCggctgccttccccagcgagc	6	6	11	18	2	0	1	0	0	0	1	2	3	2	1	5	2	5	2	5	2	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:11718489C>T	ENST00000381486.2	+	6	1004	c.704C>T	c.(703-705)aCg>aTg	p.T235M	GREB1_ENST00000263834.5_Missense_Mutation_p.T235M|GREB1_ENST00000381483.2_Missense_Mutation_p.T235M|GREB1_ENST00000234142.5_Missense_Mutation_p.T235M|GREB1_ENST00000389825.3_Missense_Mutation_p.T125M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	235						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGGAGAGCACGGCTGCCTTC	0.602													12	100					0	0	0	0	T	11718489	C	T	11718489	3	4	336	1	0	0	0	0	1	0	0	0	6810	536	19	1	722	1	GREB1	2	11718489	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	4700298	11718489	231480884	73	62191											
GREB1	9687	broad.mit.edu	37	chr2	11729026	11729026	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctccgaggagatgcagctCctgcttaccgtctactacct	8	11	8	14	2	2	1	0	0	2	1	4	3	3	1	4	1	6	3	4	1	3	3	rs149895684		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:11729026C>A	ENST00000381486.2	+	10	1614	c.1314C>A	c.(1312-1314)ctC>ctA	p.L438L	GREB1_ENST00000381483.2_Silent_p.L438L|GREB1_ENST00000234142.5_Silent_p.L438L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	438						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGATGCAGCTCCTGCTTACCG	0.627													7	81					0.248553	0.249789	1	0	A	11729026	C	A	11729026	2	1	336	1	0	0	0	0	0	0	0	1	6810	842	30	2		2	GREB1	2	11729026	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	10537	11729026	231470347	74	62192											
CAPN13	92291	broad.mit.edu	37	chr2	30987150	30987150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcgaggaagccatagtgcaGatcggaataggatccgagca	13	6	13	9	3	0	1	0	0	0	1	3	6	1	4	2	3	3	2	2	3	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:30987150G>C	ENST00000295055.8	-	6	723	c.547C>G	c.(547-549)Ctg>Gtg	p.L183V	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.L183V	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	183	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CCATAGTGCAGATCGGAATAG	0.582													5	36					0	0	0	0	C	30987150	G	C	30987150	3	2	336	1	0	0	0	0	1	0	0	0	2651	933	33	2	1530	2	CAPN13	2	30987150	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	19258124	30987150	212212223	75	62193											
SRD5A2	6716	broad.mit.edu	37	chr2	31754488	31754488	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgatccattcaatgatctcaCcgaggaaattggctccagaa	13	9	8	11	2	2	2	2	1	1	1	5	5	4	3	3	2	0	1	3	2	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:31754488C>T	ENST00000405650.1	-	0	752				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	AATGATCTCACCGAGGAAATT	0.463													4	25					0	0	0	0	T	31754488	C	T	31754488	1	4	336	0	1	0	0	0	0	0	0	0	15229	507	18	4		4	SRD5A2	2	31754488	RNA	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	767338	31754488	211444885	76	62194											
EPAS1	2034	broad.mit.edu	37	chr2	46602956	46602956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccccagtgcatcatGtgtgtcaactacgtcctgag	8	10	10	13	1	2	1	2	1	0	0	3	1	3	1	3	0	5	2	3	0	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:46602956G>T	ENST00000263734.3	+	8	1524	c.1014G>T	c.(1012-1014)atG>atT	p.M338I		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	338	PAC.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGTGCATCATGTGTGTCAACT	0.612													11	86					1.61879e-10	2.31502e-10	1	0	T	46602956	G	T	46602956	3	4	336	1	0	0	0	0	1	0	0	0	5188	1377	48	4	1044	4	EPAS1	2	46602956	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	14848468	46602956	196596417	77	62195											
CALM2	805	broad.mit.edu	37	chr2	47389768	47389768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttatagttccatcaccaTctttgtcaaatagtgaaaaa	14	15	5	7	0	3	1	2	1	1	0	4	1	4	1	2	0	0	2	2	0	6	6	rs11551457		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:47389768T>C	ENST00000272298.7	-	3	225	c.68A>G	c.(67-69)gAt>gGt	p.D23G	CALM2_ENST00000422269.1_Intron|CALM2_ENST00000409563.1_Missense_Mutation_p.D70G	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	23	EF-hand 1.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	TCCATCACCATCTTTGTCAAA	0.338													9	56					0	0	0	0	C	47389768	T	C	47389768	3	2	336	1	0	0	0	0	1	0	0	0	2610	1435	50	5	397	5	CALM2	2	47389768	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	786812	47389768	195809605	78	62196											
NRXN1	9378	broad.mit.edu	37	chr2	50847190	50847190	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccataaagttgttactGactggtgaccctggaaggtc	10	10	11	10	0	0	2	0	2	0	0	1	3	0	3	2	3	2	2	2	3	4	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:50847190G>T	ENST00000404971.1	-	9	2749	c.1410C>A	c.(1408-1410)gtC>gtA	p.V470V	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Silent_p.V422V|NRXN1_ENST00000402717.3_Silent_p.V422V|NRXN1_ENST00000406316.2_Silent_p.V430V|NRXN1_ENST00000406859.3_Silent_p.V430V|NRXN1_ENST00000401669.2_Silent_p.V430V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	430	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGTTGTTACTGACTGGTGACC	0.463													8	18					3.09899e-07	3.99997e-07	1	0	T	50847190	G	T	50847190	2	4	336	1	0	0	0	0	0	0	0	1	10736	1277	45	2		2	NRXN1	2	50847190	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3457422	50847190	192352183	79	62197											
PLEK	5341	broad.mit.edu	37	chr2	68613677	68613677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtatccaaccagtctgttagGaatcgccaggaaggcctcat	11	9	10	11	1	2	0	1	0	1	0	4	2	3	2	4	3	1	2	4	3	5	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:68613677G>T	ENST00000234313.7	+	5	695	c.516G>T	c.(514-516)agG>agT	p.R172S		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	172	DEP.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGTCTGTTAGGAATCGCCAGG	0.522													12	36					2.68362e-12	3.94248e-12	1	0	T	68613677	G	T	68613677	3	4	336	1	0	0	0	0	1	0	0	0	12125	1165	41	2	534	2	PLEK	2	68613677	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	17766487	68613677	174585696	80	62198											
PROKR1	10887	broad.mit.edu	37	chr2	68882461	68882461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgcgcgacttcttccccaCcgtgtttgtgaaggagaagc	7	10	12	12	4	1	2	0	1	1	1	2	4	2	2	3	1	2	1	3	1	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:68882461C>A	ENST00000303786.3	+	3	1355	c.935C>A	c.(934-936)aCc>aAc	p.T312N	PROKR1_ENST00000394342.2_Missense_Mutation_p.T312N			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	312						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TTCTTCCCCACCGTGTTTGTG	0.572													14	67					7.93312e-07	1.00312e-06	1	0	A	68882461	C	A	68882461	3	1	336	1	0	0	0	0	1	0	0	0	12632	507	18	4	941	4	PROKR1	2	68882461	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	268784	68882461	174316912	81	62199											
ADD2	119	broad.mit.edu	37	chr2	70919654	70919654	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaagcagctgctgcccttctCcaccacctctcccagaatgt	8	9	7	17	0	2	1	0	0	2	1	4	2	2	1	5	0	4	3	5	0	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:70919654C>G	ENST00000264436.3	-	7	1030	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	ADD2_ENST00000430656.1_Missense_Mutation_p.E212Q|ADD2_ENST00000355733.3_Missense_Mutation_p.E196Q|ADD2_ENST00000413157.2_Missense_Mutation_p.E196Q|ADD2_ENST00000407644.2_Missense_Mutation_p.E196Q	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	196					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTGCCCTTCTCCACCACCTCT	0.612													5	29					0	0	0	0	G	70919654	C	G	70919654	3	3	336	1	0	0	0	0	1	0	0	0	305	864	30	2	1811	2	ADD2	2	70919654	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	2037193	70919654	172279719	82	62200											
LRRTM4	80059	broad.mit.edu	37	chr2	76975852	76975852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctctctaggtagatggccGgtgctgccgacctggcgatg	5	11	14	11	3	2	1	0	0	2	1	3	3	2	1	3	4	2	2	3	4	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:76975852G>T	ENST00000409911.1	-	3	1968	c.1745C>A	c.(1744-1746)cCg>cAg	p.P582Q	LRRTM4_ENST00000409093.1_Missense_Mutation_p.P581Q|LRRTM4_ENST00000409884.1_Missense_Mutation_p.P581Q	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	581						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTAGATGGCCGGTGCTGCCGA	0.592													11	143					6.40141e-05	7.46369e-05	1	0	T	76975852	G	T	76975852	3	4	336	1	0	0	0	0	1	0	0	0	9106	1116	39	3	34	3	LRRTM4	2	76975852	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	6056198	76975852	166223521	83	62201											
LRRTM4	80059	broad.mit.edu	37	chr2	77745493	77745493	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtgcagggcccagatccaTtaaccgatatatccatggtc	11	10	9	11	1	0	1	0	0	0	1	3	2	2	1	4	2	2	1	4	2	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:77745493T>A	ENST00000409088.3	-	3	1916	c.1502A>T	c.(1501-1503)aAt>aTt	p.N501I	LRRTM4_ENST00000409093.1_Missense_Mutation_p.N501I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.N502I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.N502I|LRRTM4_ENST00000409884.1_Missense_Mutation_p.N501I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	501						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCCAGATCCATTAACCGATAT	0.453													7	29					0	0	0	0	A	77745493	T	A	77745493	3	1	336	1	0	0	0	0	1	0	0	0	9106	1493	52	5	284	5	LRRTM4	2	77745493	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	769641	77745493	165453880	84	62202											
LRRTM4	80059	broad.mit.edu	37	chr2	77745716	77745716	+	Missense_Mutation	SNP	C	C	A																															aaagagagccacactcccggCaataattttgtgaaatgaaa																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:77745716C>A	ENST00000409088.3	-	3	1693	c.1279G>T	c.(1279-1281)Gcc>Tcc	p.A427S	LRRTM4_ENST00000409093.1_Missense_Mutation_p.A427S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A428S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A428S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A427S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	427						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACACTCCCGGCAATAATTTTG	0.493													5	57					0.0215528	0.0223551	1	0	A	77745716	C	A	77745716	3	1	336	1	0	0	0	0	1	0	0	0	9106	710	25	4	507	4	LRRTM4	2	77745716	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	223	77745716	165453657	85	62203	742	2									
LRRTM4	80059	broad.mit.edu	37	chr2	77745717	77745717	+	Silent	SNP	A	A	T																															aagagagccacactcccggcAataattttgtgaaatgaaac																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:77745717A>T	ENST00000409088.3	-	3	1692	c.1278T>A	c.(1276-1278)atT>atA	p.I426I	LRRTM4_ENST00000409093.1_Silent_p.I426I|LRRTM4_ENST00000409282.1_Silent_p.I427I|LRRTM4_ENST00000409911.1_Silent_p.I427I|LRRTM4_ENST00000409884.1_Silent_p.I426I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	426						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CACTCCCGGCAATAATTTTGT	0.493													5	57					0	0	0	0	T	77745717	A	T	77745717	2	4	336	1	0	0	0	0	0	0	0	1	9106	126	5	5		5	LRRTM4	2	77745717	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	1	77745717	165453656	86	62204	742	2									
SMYD1	150572	broad.mit.edu	37	chr2	88383887	88383887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggcaggagaagctccatCgctgtgggcagtgcaagttt	10	8	15	8	1	0	2	0	0	0	2	2	3	1	2	1	3	2	6	1	3	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:88383887C>T	ENST00000419482.2	+	2	275	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Missense_Mutation_p.R64C|SMYD1_ENST00000444564.2_Missense_Mutation_p.R64C	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GAAGCTCCATCGCTGTGGGCA	0.507													11	63					0	0	0	0	T	88383887	C	T	88383887	3	4	336	1	0	0	0	0	1	0	0	0	14909	884	31	1	196	1	SMYD1	2	88383887	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	10638170	88383887	154815486	87	62205											
ZNF2	7549	broad.mit.edu	37	chr2	95843345	95843345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaactataacagcattGtgtcattgggtaaggggagc	12	10	14	5	0	1	1	1	0	0	1	1	3	1	2	0	4	4	2	0	4	4	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:95843345G>T	ENST00000398107.2	+	2	547	c.25G>T	c.(25-27)Gtg>Ttg	p.V9L	ZNF2_ENST00000453539.2_Missense_Mutation_p.V51L|ZNF2_ENST00000295210.6_Missense_Mutation_p.V51L|ZNF2_ENST00000425369.1_Missense_Mutation_p.V9L|ZNF2_ENST00000340539.5_Missense_Mutation_p.V51L	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	51				MAAVSPTTRCQ -> RGAVFPGPEHSVPE (in Ref. 3; CAB52138).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TAACAGCATTGTGTCATTGGG	0.517													21	99					1.50039e-11	2.18435e-11	1	0	T	95843345	G	T	95843345	3	4	336	1	0	0	0	0	1	0	0	0	17855	1377	48	4	157	4	ZNF2	2	95843345	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	7459458	95843345	147356028	88	62206											
SNRNP200	23020	broad.mit.edu	37	chr2	96961275	96961275	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcgctcaccacccttgCgggtgatgatgtcccacttc	6	10	11	14	2	1	2	1	2	0	0	3	2	2	2	3	2	2	1	3	2	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:96961275C>A	ENST00000323853.5	-	14	1870	c.1793G>T	c.(1792-1794)cGc>cTc	p.R598L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	598	Helicase ATP-binding 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ACCACCCTTGCGGGTGATGAT	0.562													6	85					0.00116845	0.00129152	1	0	A	96961275	C	A	96961275	3	1	336	1	0	0	0	0	1	0	0	0	14940	768	27	3	4745	3	SNRNP200	2	96961275	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1117930	96961275	146238098	89	62207											
FER1L5	90342	broad.mit.edu	37	chr2	97368984	97368984	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgccgaccccaagtggccCtatttcatccaatacaagca	12	7	7	15	2	1	0	1	0	0	0	2	2	2	0	5	1	2	1	5	1	5	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:97368984C>T	ENST00000457909.1	+	0	5095							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCAAGTGGCCCTATTTCATCC	0.582													19	114					0	0	0	0	T	97368984	C	T	97368984	1	4	336	0	1	0	0	0	0	0	0	0	5859	668	24	4		4	FER1L5	2	97368984	RNA	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	407709	97368984	145830389	90	62208											
MFSD9	84804	broad.mit.edu	37	chr2	103347528	103347528	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatgccataggaggagcCtgtaaaaaacaaatcaataa	21	6	7	7	0	1	0	1	0	0	0	1	2	1	2	2	2	3	1	2	2	9	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:103347528C>A	ENST00000258436.5	-	3	297		c.e3-1			NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9						transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TAGGAGGAGCCTGTAAAAAAC	0.348													9	61					2.17888e-05	2.58902e-05	1	0	A	103347528	C	A	103347528	5	1	336	1	0	0	0	0	0	0	1	0	9608	695	24	4	1187	4	MFSD9	2	103347528	Splice_Site	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	5978544	103347528	139851845	91	62209											
MERTK	10461	broad.mit.edu	37	chr2	112786315	112786315	+	Frame_Shift_Del	DEL	G	G	-																															gaaaagaacagtgttttaccGggggagagacttgttaggaa																								rs144406499		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:112786315delG	ENST00000295408.4	+	19	3131	c.2874delG	c.(2872-2874)ccfs	p.P958fs	MERTK_ENST00000409780.1_Frame_Shift_Del_p.P782fs|MERTK_ENST00000421804.2_Frame_Shift_Del_p.P958fs			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	958					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGTTTTACCGGGGGAGAGAC	0.527													7	65	---	---	---	---					-	112786315	G	-	112786315	7	5	336	1	0	1	0	1	0	0	0	0	9548	1103	39	0	2948	0	MERTK	2	112786315	Frame_Shift_Del	DEL	G	TCGA-CV-A45W-01A-11D-A25D-08	9438787	112786315	130413058	92	62210											
PSD4	23550	broad.mit.edu	37	chr2	113940308	113940308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttgccaggagcaaacccGggccactgaccctcctgaat	9	6	10	16	1	0	2	0	2	0	0	1	3	1	3	6	2	3	1	6	2	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:113940308G>A	ENST00000245796.6	+	2	470	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Missense_Mutation_p.R92Q	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	92					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGCAAACCCGGGCCACTGAC	0.642													8	55					0	0	0	0	A	113940308	G	A	113940308	3	1	336	1	0	0	0	0	1	0	0	0	12728	1116	39	1	277	1	PSD4	2	113940308	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1153993	113940308	129259065	93	62211											
DBI	1622	broad.mit.edu	37	chr2	120125881	120125881	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggcgacataaatacaGgtatgcagagcgggggttgg	10	8	17	6	2	0	1	0	0	0	1	0	2	0	1	0	5	3	3	0	5	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:120125881G>A	ENST00000542275.1	+	2	394	c.310_splice	c.e2+1	p.E104_splice	DBI_ENST00000311521.4_Splice_Site_p.E60_splice|DBI_ENST00000355857.3_Splice_Site_p.E43_splice|DBI_ENST00000535757.1_Splice_Site_p.E60_splice|DBI_ENST00000535617.1_Splice_Site_p.E85_splice|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000409094.1_Splice_Site_p.E60_splice|DBI_ENST00000393103.2_Splice_Site_p.E44_splice	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	43					transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						CATAAATACAGGTATGCAGAG	0.527													5	79					0	0	0	0	A	120125881	G	A	120125881	5	1	336	1	0	0	0	0	0	0	1	0	4284	1014	35	4	439	4	DBI	2	120125881	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	6185573	120125881	123073492	94	62212											
PTPN4	5775	broad.mit.edu	37	chr2	120620118	120620118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttttacagaaacatGatcaggggcaagtcttgttg	10	17	9	5	0	2	2	1	1	1	1	2	2	2	2	0	2	2	2	0	2	3	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:120620118G>T	ENST00000263708.2	+	3	916	c.145G>T	c.(145-147)Gat>Tat	p.D49Y		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	49	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ACAGAAACATGATCAGGGGCA	0.348													9	48					0.00829132	0.00882659	1	0	T	120620118	G	T	120620118	3	4	336	1	0	0	0	0	1	0	0	0	12872	1290	45	2	151	2	PTPN4	2	120620118	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	494237	120620118	122579255	95	62213											
TSN	7247	broad.mit.edu	37	chr2	122514814	122514814	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttatttttaattctctctAggaaatcagaaaagttgtac	13	18	5	5	0	3	1	1	0	2	1	4	2	3	2	0	1	1	2	0	1	7	9			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:122514814A>C	ENST00000389682.3	+	2	313		c.e2-1		TSN_ENST00000498545.1_Intron|TSN_ENST00000409193.1_Splice_Site|TSN_ENST00000536142.1_Splice_Site	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin						DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				AATTCTCTCTAGGAAATCAGA	0.363													7	56					0	0	0	0	C	122514814	A	C	122514814	5	2	336	1	0	0	0	0	0	0	1	0	16724	434	15	5	71	5	TSN	2	122514814	Splice_Site	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	1894696	122514814	120684559	96	62214											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521323	125521323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttatcactgataccgacaGatcaaactcagaagccgctt	14	9	7	11	2	3	3	3	1	0	2	3	4	3	3	2	0	3	2	2	0	4	3	rs62171340		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:125521323G>A	ENST00000431078.1	+	15	2670	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	769	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GATACCGACAGATCAAACTCA	0.413													4	21					0	0	0	0	A	125521323	G	A	125521323	3	1	336	1	0	0	0	0	1	0	0	0	3680	942	33	2	2364	2	CNTNAP5	2	125521323	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3006509	125521323	117678050	97	62215											
LIMS2	55679	broad.mit.edu	37	chr2	128396883	128396883	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttgaggtctgtggccttGggctgggccttgcgggaggt	3	11	20	7	1	1	1	0	1	1	0	1	3	1	2	2	6	1	2	2	6	0	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:128396883G>A	ENST00000409455.1	-	10	1619	c.984C>T	c.(982-984)ccC>ccT	p.P328P	LIMS2_ENST00000409808.2_Silent_p.P328P|LIMS2_ENST00000410038.1_Silent_p.P181P|LIMS2_ENST00000545738.2_Silent_p.P355P|LIMS2_ENST00000409754.1_Silent_p.P181P|LIMS2_ENST00000355119.4_Silent_p.P333P|LIMS2_ENST00000324938.5_Silent_p.P357P|LIMS2_ENST00000409254.1_Silent_p.P181P|LIMS2_ENST00000409286.1_Silent_p.P181P|LIMS2_ENST00000494613.1_5'UTR|LIMS2_ENST00000410011.1_Silent_p.P328P			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	333					cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CTGTGGCCTTGGGCTGGGCCT	0.632													8	123					0	0	0	0	A	128396883	G	A	128396883	2	1	336	1	0	0	0	0	0	0	0	1	8858	1335	47	4		4	LIMS2	2	128396883	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2875560	128396883	114802490	98	62216											
GPR39	2863	broad.mit.edu	37	chr2	133174975	133174975	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcgaggcctgcagctaCgctacgctgctgcacgtgct	5	10	11	15	4	1	0	0	0	1	0	2	1	1	0	1	1	7	7	1	1	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:133174975C>A	ENST00000329321.3	+	1	829	c.360C>A	c.(358-360)taC>taA	p.Y120*		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	120						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGCAGCTACGCTACGCTGC	0.577													15	50					1.49906e-05	1.79976e-05	1	0	A	133174975	C	A	133174975	4	1	336	1	0	0	0	0	0	1	0	0	6742	547	19	3	362	3	GPR39	2	133174975	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	4778092	133174975	110024398	99	62217											
HNMT	3176	broad.mit.edu	37	chr2	138771667	138771667	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggggaaggttctttttaaTaatactctgagtttcatagt	11	16	10	4	0	3	1	1	1	2	0	3	3	3	2	0	3	1	2	0	3	5	8			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:138771667T>C	ENST00000280097.3	+	6	1028	c.846T>C	c.(844-846)aaT>aaC	p.N282N	HNMT_ENST00000410115.1_Silent_p.N282N	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	282					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TTCTTTTTAATAATACTCTGA	0.348													27	89					0	0	0	0	C	138771667	T	C	138771667	2	2	336	1	0	0	0	0	0	0	0	1	7305	1403	49	5		5	HNMT	2	138771667	Silent	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	5596692	138771667	104427706	100	62218											
KYNU	8942	broad.mit.edu	37	chr2	143790809	143790809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatattaatttctcagaactGcagttaatccctggggtctg	10	14	9	8	0	2	1	1	0	2	1	4	2	3	1	1	2	2	2	1	2	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:143790809G>A	ENST00000264170.4	+	12	1218	c.960G>A	c.(958-960)ctG>ctA	p.L320L	KYNU_ENST00000409512.1_Silent_p.L320L	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	320					anthranilate metabolic process|NAD biosynthetic 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)	TCTCAGAACTGCAGTTAATCC	0.368													23	142					0	0	0	0	A	143790809	G	A	143790809	2	1	336	1	0	0	0	0	0	0	0	1	8640	1306	46	4		4	KYNU	2	143790809	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	5019142	143790809	99408564	101	62219											
NEB	4703	broad.mit.edu	37	chr2	152432252	152432252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctagcgagattaatttctGgagtatctggcattatgtgt	9	16	10	6	1	3	1	0	0	3	1	3	3	3	2	0	2	1	2	0	2	4	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:152432252G>A	ENST00000427231.2	-	107	17172	c.16970C>T	c.(16969-16971)cCa>cTa	p.P5657L	NEB_ENST00000604864.1_Missense_Mutation_p.P5657L|NEB_ENST00000603639.1_Missense_Mutation_p.P5657L|NEB_ENST00000397345.3_Missense_Mutation_p.P5657L|NEB_ENST00000409198.1_Missense_Mutation_p.P3956L|NEB_ENST00000172853.10_Missense_Mutation_p.P3956L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5672					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTAATTTCTGGAGTATCTGG	0.358													34	173					0	0	0	0	A	152432252	G	A	152432252	3	1	336	1	0	0	0	0	1	0	0	0	10372	1348	47	4	9020	4	NEB	2	152432252	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	8641443	152432252	90767121	102	62220											
NEB	4703	broad.mit.edu	37	chr2	152472608	152472608	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcttggactcttccaaagCaagtttatagagtttctgta	10	16	7	8	0	3	1	0	0	3	1	4	2	4	2	1	1	1	4	1	1	5	8			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:152472608C>A	ENST00000427231.2	-	76	11399	c.11197G>T	c.(11197-11199)Gct>Tct	p.A3733S	NEB_ENST00000604864.1_Missense_Mutation_p.A3733S|NEB_ENST00000603639.1_Missense_Mutation_p.A3733S|NEB_ENST00000397345.3_Missense_Mutation_p.A3733S|NEB_ENST00000409198.1_Missense_Mutation_p.A3490S|NEB_ENST00000172853.10_Missense_Mutation_p.A3490S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3733					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTCCAAAGCAAGTTTATAG	0.378													3	12					0.115264	0.117444	1	0	A	152472608	C	A	152472608	3	1	336	1	0	0	0	0	1	0	0	0	10372	710	25	4	14917	4	NEB	2	152472608	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	40356	152472608	90726765	103	62221											
KCNH7	90134	broad.mit.edu	37	chr2	163374654	163374655	+	Frame_Shift_Ins	INS	-	-	C																															ctcagaccagggaatttgaaINScccaaaaaatttccctataa																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:163374654_163374655insC	ENST00000332142.5	-	4	576_577	c.477_478insG	c.(475-480)ggtcaafs	p.Q160fs	KCNH7_ENST00000328032.4_Frame_Shift_Ins_p.Q160fs|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	160					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGGAATTTGAACCCAAAAAATT	0.376													9	65	---	---	---	---					C	163374655	-	C	163374654	7	5	336	1	0	1	1	0	0	0	0	0	8090	43	2	0	3230	0	KCNH7	2	163374654	Frame_Shift_Ins	INS	-	TCGA-CV-A45W-01A-11D-A25D-08	10902046	163374654	79824719	104	62222											
TTC21B	79809	broad.mit.edu	37	chr2	166744891	166744891	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattatgcgaagctgtacGtgaccctgaacagtctgagg	10	10	11	10	2	1	3	0	3	1	0	2	4	2	3	2	1	4	2	2	1	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:166744891G>C	ENST00000243344.7	-	25	3494	c.3357C>G	c.(3355-3357)caC>caG	p.H1119Q	TTC21B_ENST00000536175.1_Missense_Mutation_p.H57Q	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1119						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GAAGCTGTACGTGACCCTGAA	0.378													11	37					0	0	0	0	C	166744891	G	C	166744891	3	2	336	1	0	0	0	0	1	0	0	0	16784	1136	40	3	613	3	TTC21B	2	166744891	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3370237	166744891	76454482	105	62223											
SCN7A	6332	broad.mit.edu	37	chr2	167263029	167263029	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggacagcatcaaaggaagCatcagattatgaaacacctt	17	7	9	8	0	2	2	2	1	0	1	2	4	2	4	1	2	3	2	1	2	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:167263029C>A	ENST00000409855.1	-	25	4236	c.4110G>T	c.(4108-4110)atG>atT	p.M1370I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1370					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCAAAGGAAGCATCAGATTAT	0.428													17	71					1.99824e-07	2.60836e-07	1	0	A	167263029	C	A	167263029	3	1	336	1	0	0	0	0	1	0	0	0	14010	710	25	4	942	4	SCN7A	2	167263029	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	518138	167263029	75936344	106	62224											
XIRP2	129446	broad.mit.edu	37	chr2	168105908	168105908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcaagggacattatgcaatCcaaatcagcttgcgaaatta	15	10	7	9	1	2	0	2	0	0	0	3	2	3	1	1	1	3	2	1	1	6	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:168105908C>T	ENST00000409195.1	+	9	8095	c.8006C>T	c.(8005-8007)tCc>tTc	p.S2669F	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2447F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2669F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2494					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						ATTATGCAATCCAAATCAGCT	0.408													15	67					0	0	0	0	T	168105908	C	T	168105908	3	4	336	1	0	0	0	0	1	0	0	0	17526	855	30	2	8036	2	XIRP2	2	168105908	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	842879	168105908	75093465	107	62225											
MYO3B	140469	broad.mit.edu	37	chr2	171259392	171259392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaatgaatgtggggatcttgGatatctttggattcgagaat	11	14	13	3	1	2	2	0	1	2	1	3	7	2	5	0	4	0	0	0	4	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:171259392G>A	ENST00000334231.6	+	19	2191	c.2191G>A	c.(2191-2193)Gat>Aat	p.D731N	MYO3B_ENST00000408978.4_Missense_Mutation_p.D722N|MYO3B_ENST00000409044.3_Missense_Mutation_p.D722N|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	722	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGGGATCTTGGATATCTTTGG	0.403													23	77					0	0	0	0	A	171259392	G	A	171259392	3	1	336	1	0	0	0	0	1	0	0	0	10147	1174	41	2	2238	2	MYO3B	2	171259392	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3153484	171259392	71939981	108	62226											
TTN	7273	broad.mit.edu	37	chr2	179449632	179449632	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagggatgtgccatgacAgggagcaagcatcagcgtct	11	6	14	10	1	2	2	1	1	1	1	2	4	2	4	2	2	4	2	2	2	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179449632A>T	ENST00000589042.1	-	310	64960	c.64736T>A	c.(64735-64737)cTg>cAg	p.L21579Q	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L12639Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L12514Q|TTN_ENST00000342175.6_Missense_Mutation_p.L12706Q|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L19938Q|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L19011Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19938	Fibronectin type-III 56.						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)			GTGCCATGACAGGGAGCAAGC	0.507													9	119					0	0	0	0	T	179449632	A	T	179449632	3	4	336	1	0	0	0	0	1	0	0	0	16831	188	7	5	43455	5	TTN	2	179449632	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	8190240	179449632	63749741	109	62227											
TTN	7273	broad.mit.edu	37	chr2	179462705	179462705	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccagcaatgttgactgcTctaactctaaatttgtagaa	13	13	7	8	0	2	2	0	1	2	1	2	2	2	2	1	0	4	4	1	0	6	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179462705T>C	ENST00000589042.1	-	293	57416	c.57192A>G	c.(57190-57192)agA>agG	p.R19064R	TTN_ENST00000359218.5_Silent_p.R10124R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.R9999R|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.R10191R|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Silent_p.R17423R|TTN_ENST00000342992.6_Silent_p.R16496R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17423	Fibronectin type-III 38.						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)			TGTTGACTGCTCTAACTCTAA	0.408													21	96					0	0	0	0	C	179462705	T	C	179462705	2	2	336	1	0	0	0	0	0	0	0	1	16831	1548	54	5		5	TTN	2	179462705	Silent	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	13073	179462705	63736668	110	62228											
TTN	7273	broad.mit.edu	37	chr2	179554032	179554032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aataccttttggtggtggtgGaacttcttcctccttccgag	6	15	10	10	1	1	0	0	0	1	0	4	2	4	1	4	4	2	0	4	4	3	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179554032G>T	ENST00000589042.1	-	124	32220	c.31996C>A	c.(31996-31998)Cca>Aca	p.P10666T	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P10349T|TTN_ENST00000342992.6_Missense_Mutation_p.P9422T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10349	Glu-rich.|Pro-rich.						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)			GGTGGTGGTGGAACTTCTTCC	0.378													9	41					2.17888e-05	2.58902e-05	1	0	T	179554032	G	T	179554032	3	4	336	1	0	0	0	0	1	0	0	0	16831	1174	41	2	72489	2	TTN	2	179554032	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	91327	179554032	63645341	111	62229											
TTN	7273	broad.mit.edu	37	chr2	179579989	179579989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttttgcggaaaatgggtgGttctaaaattggaaaaaagg	14	12	12	3	1	1	0	0	0	1	0	1	2	1	2	0	5	1	1	0	5	7	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179579989G>T	ENST00000589042.1	-	90	26148	c.25924C>A	c.(25924-25926)Cca>Aca	p.P8642T	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P8325T|TTN_ENST00000342992.6_Missense_Mutation_p.P7398T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8325	Ig-like 69.						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)			AAAATGGGTGGTTCTAAAATT	0.393													10	62					7.48243e-07	9.52095e-07	1	0	T	179579989	G	T	179579989	3	4	336	1	0	0	0	0	1	0	0	0	16831	1261	44	4	78697	4	TTN	2	179579989	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	25957	179579989	63619384	112	62230											
TTN	7273	broad.mit.edu	37	chr2	179585325	179585325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcccgaaatttcacattGgagaatcacatcagaacctt	14	11	6	10	1	3	2	3	0	0	2	4	4	4	2	2	1	1	1	2	1	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179585325G>T	ENST00000589042.1	-	80	23388	c.23164C>A	c.(23164-23166)Caa>Aaa	p.Q7722K	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q7405K|TTN_ENST00000342992.6_Missense_Mutation_p.Q6478K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7405	Ig-like 59.						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)			ATTTCACATTGGAGAATCACA	0.388													5	25					1.23904e-05	1.49648e-05	1	0	T	179585325	G	T	179585325	3	4	336	1	0	0	0	0	1	0	0	0	16831	1357	47	4	81497	4	TTN	2	179585325	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	5336	179585325	63614048	113	62231											
TTN	7273	broad.mit.edu	37	chr2	179599097	179599097	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccacacttgccgacttCattagcaacaacacattcat	13	9	5	14	1	2	0	2	0	0	0	2	1	2	0	2	0	5	2	2	0	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179599097C>A	ENST00000589042.1	-	52	15678	c.15454G>T	c.(15454-15456)Gaa>Taa	p.E5152*	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.E4835*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E3908*|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4835	Ig-like 32.						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)			TTGCCGACTTCATTAGCAACA	0.368													25	139					3.6726e-16	5.64156e-16	1	0	A	179599097	C	A	179599097	4	1	336	1	0	0	0	0	0	1	0	0	16831	835	29	2	89319	2	TTN	2	179599097	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	13772	179599097	63600276	114	62232											
TTN	7273	broad.mit.edu	37	chr2	179654192	179654192	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagtagcaactgctattgtAgacaaggcagttttctcggc	10	11	11	9	1	1	1	0	0	1	1	2	1	1	1	0	2	3	7	0	2	5	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179654192A>T	ENST00000589042.1	-	13	2195	c.1971T>A	c.(1969-1971)tcT>tcA	p.S657S	TTN_ENST00000359218.5_Silent_p.S611S|TTN_ENST00000460472.2_Silent_p.S611S|TTN_ENST00000342175.6_Silent_p.S611S|TTN_ENST00000591111.1_Silent_p.S657S|TTN_ENST00000342992.6_Silent_p.S657S|TTN_ENST00000360870.5_Silent_p.S657S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	657							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)			CTGCTATTGTAGACAAGGCAG	0.383													7	86					0	0	0	0	T	179654192	A	T	179654192	2	4	336	1	0	0	0	0	0	0	0	1	16831	407	15	5		5	TTN	2	179654192	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	55095	179654192	63545181	115	62233											
TTN	7273	broad.mit.edu	37	chr2	179659889	179659889	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttcaggacctgtggcCacggtggatgcctgagtctt	6	10	14	11	1	2	1	1	1	1	0	2	3	2	3	3	5	1	1	3	5	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179659889C>A	ENST00000589042.1	-	7	1229	c.1005G>T	c.(1003-1005)gtG>gtT	p.V335V	TTN_ENST00000359218.5_Silent_p.V335V|TTN_ENST00000460472.2_Silent_p.V335V|TTN_ENST00000342175.6_Silent_p.V335V|TTN_ENST00000591111.1_Silent_p.V335V|TTN_ENST00000342992.6_Silent_p.V335V|TTN_ENST00000360870.5_Silent_p.V335V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	335	ZIS1.						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)			GACCTGTGGCCACGGTGGATG	0.557													8	68					0.0381472	0.0391651	1	0	A	179659889	C	A	179659889	2	1	336	1	0	0	0	0	0	0	0	1	16831	581	21	4		4	TTN	2	179659889	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	5697	179659889	63539484	116	62234											
ITGA4	3676	broad.mit.edu	37	chr2	182363382	182363382	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgagtttggatgtgaacAgaaaggcagagtctccacca	14	8	11	8	0	1	4	0	2	1	2	2	5	1	5	2	2	1	2	2	2	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:182363382A>C	ENST00000397033.2	+	15	2003	c.1573A>C	c.(1573-1575)Aga>Cga	p.R525R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	525					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GGATGTGAACAGAAAGGCAGA	0.343													9	49					0	0	0	0	C	182363382	A	C	182363382	2	2	336	1	0	0	0	0	0	0	0	1	7931	180	7	5		5	ITGA4	2	182363382	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	2703493	182363382	60835991	117	62235											
ITGA4	3676	broad.mit.edu	37	chr2	182374391	182374391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttattttccttagaaagatGtgcgggacatcctcacccca	10	12	8	11	1	1	2	1	0	0	2	3	3	3	3	4	1	1	1	4	1	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:182374391G>A	ENST00000397033.2	+	16	2132	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	568					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTAGAAAGATGTGCGGGACAT	0.403													7	80					0	0	0	0	A	182374391	G	A	182374391	3	1	336	1	0	0	0	0	1	0	0	0	7931	1377	48	4	1764	4	ITGA4	2	182374391	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	11009	182374391	60824982	118	62236											
ZNF804A	91752	broad.mit.edu	37	chr2	185801872	185801872	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaacaaaataaggttgaaAgagacccatgaatactggtt	18	9	8	6	0	0	3	0	2	0	1	0	4	0	3	1	2	3	2	1	2	8	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:185801872A>G	ENST00000302277.6	+	4	2343	c.1749A>G	c.(1747-1749)aaA>aaG	p.K583K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	583						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAGGTTGAAAGAGACCCATG	0.299													7	60					0	0	0	0	G	185801872	A	G	185801872	2	3	336	1	0	0	0	0	0	0	0	1	18263	69	3	5		5	ZNF804A	2	185801872	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	3427481	185801872	57397501	119	62237											
CALCRL	10203	broad.mit.edu	37	chr2	188247909	188247909	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatgcttaccttctgcttGttgaatggggtcttgcataa	7	15	10	9	0	2	1	0	1	2	0	2	1	2	1	2	2	4	4	2	2	3	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:188247909G>A	ENST00000409998.1	-	6	956	c.175C>T	c.(175-177)Caa>Taa	p.Q59*	CALCRL_ENST00000392370.3_Nonsense_Mutation_p.Q59*|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Nonsense_Mutation_p.Q59*|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	59						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CCTTCTGCTTGTTGAATGGGG	0.343													10	98					0	0	0	0	A	188247909	G	A	188247909	4	1	336	1	0	0	0	0	0	1	0	0	2605	1386	48	4	1254	4	CALCRL	2	188247909	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2446037	188247909	54951464	120	62238											
NAB1	4664	broad.mit.edu	37	chr2	191524250	191524250	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcctgcagtagttatgaaagGagtagcaatgcccgggaacc	12	8	12	9	1	0	1	0	1	0	0	1	3	1	3	3	2	4	5	3	2	6	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:191524250G>C	ENST00000337386.5	+	4	809	c.348G>C	c.(346-348)agG>agC	p.R116S	NAB1_ENST00000409581.1_Missense_Mutation_p.R116S|NAB1_ENST00000409641.1_Missense_Mutation_p.R116S|NAB1_ENST00000357215.5_Missense_Mutation_p.R116S	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	116					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GTTATGAAAGGAGTAGCAATG	0.498													4	51					0	0	0	0	C	191524250	G	C	191524250	3	2	336	1	0	0	0	0	1	0	0	0	10201	1165	41	2	350	2	NAB1	2	191524250	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3276341	191524250	51675123	121	62239											
SDPR	8436	broad.mit.edu	37	chr2	192701247	192701247	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttttattttctctgccCtactttcttccaccttttcc	4	22	1	14	0	3	0	0	0	3	0	6	0	5	0	4	0	2	0	4	0	2	10			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:192701247C>G	ENST00000304141.4	-	2	1009	c.680G>C	c.(679-681)aGg>aCg	p.R227T		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	227						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTTCTCTGCCCTACTTTCTTC	0.493													14	153					0	0	0	0	G	192701247	C	G	192701247	3	3	336	1	0	0	0	0	1	0	0	0	14057	681	24	4	601	4	SDPR	2	192701247	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1176997	192701247	50498126	122	62240											
HECW2	57520	broad.mit.edu	37	chr2	197208390	197208390	+	Translation_Start_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagttacttacgttccatgaAatagggcccaggctcaattc	11	12	8	10	1	1	1	1	1	0	0	3	1	2	1	2	2	2	3	2	2	6	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:197208390A>C	ENST00000409111.1	-	0	509				HECW2_ENST00000260983.2_Missense_Mutation_p.F131V			Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGTTCCATGAAATAGGGCCCA	0.363													14	182					0	0	0	0	C	197208390	A	C	197208390	1	2	336	1	0	0	0	0	0	0	0	0	7093	14	1	5		5	HECW2	2	197208390	Translation_Start_Site	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	4507143	197208390	45990983	123	62241											
BARD1	580	broad.mit.edu	37	chr2	215632324	215632324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggtgttcaccaatgcctTatgctggagcaataattcca	10	12	10	9	0	1	0	1	0	0	0	2	1	2	1	3	3	3	3	3	3	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:215632324T>C	ENST00000260947.4	-	6	1584	c.1450A>G	c.(1450-1452)Aag>Gag	p.K484E	BARD1_ENST00000449967.2_Missense_Mutation_p.K340E	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	484					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACCAATGCCTTATGCTGGAGC	0.408									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	40					0	0	0	0	C	215632324	T	C	215632324	3	2	336	1	0	0	0	0	1	0	0	0	1316	1763	61	5	907	5	BARD1	2	215632324	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	18423934	215632324	27567049	124	62242											
CCDC108	255101	broad.mit.edu	37	chr2	219900384	219900384	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgtccatggagcttgcGggctgttcaggtggcaggga	6	10	18	7	1	1	1	1	1	0	0	2	3	2	3	1	5	2	4	1	5	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:219900384G>A	ENST00000341552.5	-	5	443	c.360C>T	c.(358-360)ccC>ccT	p.P120P	CCDC108_ENST00000295729.2_Silent_p.P55P|CCDC108_ENST00000453220.1_Silent_p.P120P|CCDC108_ENST00000441968.1_Silent_p.P120P|CCDC108_ENST00000410037.1_Silent_p.P55P|CCDC108_ENST00000409865.3_Silent_p.P109P|CCDC108_ENST00000324264.6_Silent_p.P55P	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	120						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAGCTTGCGGGCTGTTCAG	0.567													13	53					0	0	0	0	A	219900384	G	A	219900384	2	1	336	1	0	0	0	0	0	0	0	1	2768	1103	39	1		1	CCDC108	2	219900384	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	4268060	219900384	23298989	125	62243											
SPHKAP	80309	broad.mit.edu	37	chr2	228884717	228884717	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttaggttttctggagatcGttctgttttaatcaatggtg	7	19	11	4	1	3	1	1	0	2	1	4	2	3	1	0	3	0	4	0	3	3	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:228884717G>A	ENST00000392056.3	-	7	899	c.853C>T	c.(853-855)Cga>Tga	p.R285*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.R285*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	285						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGGAGATCGTTCTGTTTTA	0.443													17	215					0	0	0	0	A	228884717	G	A	228884717	4	1	336	1	0	0	0	0	0	1	0	0	15138	1153	40	1	4273	1	SPHKAP	2	228884717	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	8984333	228884717	14314656	126	62244											
SP100	6672	broad.mit.edu	37	chr2	231280994	231280994	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctctgaggcccacgcAgggcctagggtgggaagatg	8	5	17	11	1	1	2	0	1	1	1	1	3	1	3	3	5	0	2	3	5	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:231280994A>T	ENST00000264052.5	+	0	338				SP100_ENST00000409824.1_De_novo_Start_InFrame|SP100_ENST00000427101.2_De_novo_Start_InFrame|SP100_ENST00000409112.1_De_novo_Start_InFrame|SP100_ENST00000409341.1_De_novo_Start_InFrame|SP100_ENST00000340126.4_De_novo_Start_InFrame|SP100_ENST00000341950.4_De_novo_Start_InFrame	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen						DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGCCCACGCAGGGCCTAGGG	0.627													8	23					0	0	0	0	T	231280994	A	T	231280994	1	4	336	1	0	0	0	0	0	0	0	0	15048	203	7	5		5	SP100	2	231280994	Translation_Start_Site	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	2396277	231280994	11918379	127	62245											
ITM2C	81618	broad.mit.edu	37	chr2	231738190	231738190	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagtgggcggcgtgtgctAcctgtcgatgggcatggtcg	4	10	17	10	4	1	0	1	0	0	0	3	1	1	0	1	4	2	2	1	4	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:231738190A>G	ENST00000326427.6	+	2	305	c.179A>G	c.(178-180)tAc>tGc	p.Y60C	ITM2C_ENST00000409704.2_5'UTR|ITM2C_ENST00000335005.6_Intron|ITM2C_ENST00000326407.6_Missense_Mutation_p.Y60C|ITM2C_ENST00000492029.1_3'UTR	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	60					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGCGTGTGCTACCTGTCGATG	0.637													7	42					0	0	0	0	G	231738190	A	G	231738190	3	3	336	1	0	0	0	0	1	0	0	0	7967	391	14	5	185	5	ITM2C	2	231738190	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	457196	231738190	11461183	128	62246											
DGKD	8527	broad.mit.edu	37	chr2	234355440	234355440	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacttcagcgaggattccGaggtattgctggcctgttct	8	12	12	9	2	2	1	1	0	1	1	3	4	3	2	2	3	2	3	2	3	2	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:234355440G>T	ENST00000264057.2	+	12	1429	c.1417G>T	c.(1417-1419)Gag>Tag	p.E473*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.E429*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	473					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CGAGGATTCCGAGGTATTGCT	0.592													7	56					0.00307968	0.00332671	1	0	T	234355440	G	T	234355440	4	4	336	1	0	0	0	0	0	1	0	0	4504	1059	37	3	1487	3	DGKD	2	234355440	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2617250	234355440	8843933	129	62247											
ASB18	401036	broad.mit.edu	37	chr2	237150052	237150052	+	Missense_Mutation	SNP	C	C	T																															atggtcgaggtcccctgcgaCcagggcagtgtggtactcct																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:237150052C>T	ENST00000330842.6	-	1	206	c.112G>A	c.(112-114)Gtc>Atc	p.V38I	AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000409749.3_Intron			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	67					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		TCCCCTGCGACCAGGGCAGTG	0.532													8	50					0	0	0	0	T	237150052	C	T	237150052	3	4	336	1	0	0	0	0	1	0	0	0	1026	522	18	4		4	ASB18	2	237150052	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	2794612	237150052	6049321	130	62248	743	2									
ASB18	401036	broad.mit.edu	37	chr2	237150053	237150053	+	Silent	SNP	C	C	A																															tggtcgaggtcccctgcgacCagggcagtgtggtactcctg																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:237150053C>A	ENST00000330842.6	-	1	205	c.111G>T	c.(109-111)ctG>ctT	p.L37L	AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000409749.3_Intron			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	66					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CCCCTGCGACCAGGGCAGTGT	0.532													8	51					1.26484e-09	1.77122e-09	1	0	A	237150053	C	A	237150053	2	1	336	1	0	0	0	0	0	0	0	1	1026	609	21	4		4	ASB18	2	237150053	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1	237150053	6049320	131	62249	743	2									
CHL1	10752	broad.mit.edu	37	chr3	424202	424202	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagaagagcctggaaggtGggaggaactgaccagagtcc	14	4	15	8	0	0	4	0	1	0	3	1	7	1	7	3	4	2	0	3	4	4	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:424202G>T	ENST00000256509.2	+	18	2666	c.2024G>T	c.(2023-2025)tGg>tTg	p.W675L	CHL1_ENST00000397491.2_Missense_Mutation_p.W659L|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	659	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCTGGAAGGTGGGAGGAACTG	0.393													7	89					0.00307968	0.00332671	1	0	T	424202	G	T	424202	3	4	336	1	0	0	0	0	1	0	0	0	3378	1357	47	4	2086	4	CHL1	3	424202	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08		424202	197598228	132	62250											
BRPF1	7862	broad.mit.edu	37	chr3	9781399	9781399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcacctctttcagtgtccGcaagacagcctactgcgaca	9	8	9	15	3	2	1	1	0	1	1	3	2	3	1	3	1	3	2	3	1	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:9781399G>A	ENST00000383829.2	+	3	1720	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	BRPF1_ENST00000457855.1_Missense_Mutation_p.R439H|BRPF1_ENST00000302054.3_Missense_Mutation_p.R439H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R439H|BRPF1_ENST00000433861.2_Missense_Mutation_p.R439H	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	439					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TTCAGTGTCCGCAAGACAGCC	0.602													6	30					0	0	0	0	A	9781399	G	A	9781399	3	1	336	1	0	0	0	0	1	0	0	0	1528	1087	38	1	1322	1	BRPF1	3	9781399	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	9357197	9781399	188241031	133	62251											
SCN11A	11280	broad.mit.edu	37	chr3	38945426	38945426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatggccaagaagacaGtgttgatgatgatgcagatg	12	9	13	7	0	0	6	0	3	0	3	1	6	1	6	2	1	1	3	2	1	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:38945426G>T	ENST00000450244.1	-	12	1970	c.1772C>A	c.(1771-1773)aCt>aAt	p.T591N	SCN11A_ENST00000444237.2_Missense_Mutation_p.T591N|SCN11A_ENST00000456224.3_Missense_Mutation_p.T591N|SCN11A_ENST00000302328.3_Missense_Mutation_p.T591N			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	591					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAAGAAGACAGTGTTGATGAT	0.433													17	47					1.15088e-07	1.50471e-07	1	0	T	38945426	G	T	38945426	3	4	336	1	0	0	0	0	1	0	0	0	14000	1029	36	4	3663	4	SCN11A	3	38945426	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	29164027	38945426	159077004	134	62252											
ULK4	54986	broad.mit.edu	37	chr3	41795981	41795981	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataattgtggagacaaaaccCtgtagaagacatttaaacaa	19	9	7	6	0	0	3	0	0	0	3	0	4	0	3	1	1	2	1	1	1	8	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:41795981C>A	ENST00000301831.4	-	22	2656		c.e22-1			NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4								ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGACAAAACCCTGTAGAAGAC	0.363													6	38					0.217242	0.218867	1	0	A	41795981	C	A	41795981	5	1	336	1	0	0	0	0	0	0	1	0	17074	695	24	4	1698	4	ULK4	3	41795981	Splice_Site	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	2850555	41795981	156226449	135	62253											
KLHL18	23276	broad.mit.edu	37	chr3	47384244	47384244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatgagctcgaatcgcaGtgctgctggggttacagtct	7	11	13	10	3	1	1	0	1	1	0	4	3	1	1	0	2	4	5	0	2	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:47384244G>A	ENST00000232766.5	+	9	1282	c.1262G>A	c.(1261-1263)aGt>aAt	p.S421N	KLHL18_ENST00000455924.2_Missense_Mutation_p.S309N	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	421										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCGAATCGCAGTGCTGCTGGG	0.522													9	42					0	0	0	0	A	47384244	G	A	47384244	3	1	336	1	0	0	0	0	1	0	0	0	8425	1029	36	4	1296	4	KLHL18	3	47384244	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	5588263	47384244	150638186	136	62254											
AMT	275	broad.mit.edu	37	chr3	49455133	49455133	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagagagggggaggggCagccactagtcacagtacct	10	7	14	10	0	3	1	2	0	1	1	3	3	3	2	2	4	2	2	2	4	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:49455133C>A	ENST00000273588.3	-	9	1354	c.1052G>T	c.(1051-1053)tGc>tTc	p.C351F	AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_Missense_Mutation_p.C254F|AMT_ENST00000458307.2_Missense_Mutation_p.C307F|AMT_ENST00000395338.2_Missense_Mutation_p.C351F|AMT_ENST00000538581.1_Missense_Mutation_p.C295F	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	351					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGGGGAGGGGCAGCCACTAGT	0.597													29	79					7.26314e-15	1.1052e-14	1	0	A	49455133	C	A	49455133	3	1	336	1	0	0	0	0	1	0	0	0	589	710	25	4	191	4	AMT	3	49455133	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	2070889	49455133	148567297	137	62255											
MAGI1	9223	broad.mit.edu	37	chr3	65350570	65350570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaaggggtgtgtgtggtgGtgatggtggcaatcttctct	6	13	18	4	0	2	2	0	1	2	1	3	3	2	2	0	6	0	1	0	6	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:65350570G>A	ENST00000330909.8	-	20	3331	c.3332C>T	c.(3331-3333)aCc>aTc	p.T1111I	MAGI1_ENST00000483466.1_Missense_Mutation_p.T1112I|MAGI1_ENST00000402939.2_Missense_Mutation_p.T1083I|MAGI1_ENST00000497477.2_Missense_Mutation_p.T1016I	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1112					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTGTGTGGTGGTGATGGTGGC	0.488													18	99					0	0	0	0	A	65350570	G	A	65350570	3	1	336	1	0	0	0	0	1	0	0	0	9259	1261	44	4	1303	4	MAGI1	3	65350570	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	15895437	65350570	132671860	138	62256											
FAM19A1	407738	broad.mit.edu	37	chr3	68466453	68466453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggacgtgtgaagtgataGcagcacaccgatgttgtaac	12	8	14	7	2	0	2	0	2	0	0	0	5	0	3	1	1	3	4	1	1	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:68466453G>A	ENST00000478136.1	+	3	632	c.142G>A	c.(142-144)Gca>Aca	p.A48T	FAM19A1_ENST00000496687.1_Missense_Mutation_p.A48T|FAM19A1_ENST00000491017.1_3'UTR	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	48						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TGAAGTGATAGCAGCACACCG	0.478													18	42					0	0	0	0	A	68466453	G	A	68466453	3	1	336	1	0	0	0	0	1	0	0	0	5574	971	34	4	148	4	FAM19A1	3	68466453	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3115883	68466453	129555977	139	62257											
ROBO2	6092	broad.mit.edu	37	chr3	77614132	77614132	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcaacagctggcagacCgtggcaaaccatgtaaagac	14	5	12	10	1	0	3	0	1	0	2	0	3	0	3	2	2	4	5	2	2	4	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:77614132C>G	ENST00000461745.1	+	12	2610	c.1710C>G	c.(1708-1710)acC>acG	p.T570T	ROBO2_ENST00000487694.3_Silent_p.T586T|ROBO2_ENST00000332191.8_Silent_p.T570T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	570	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCTGGCAGACCGTGGCAAACC	0.448													12	54					0	0	0	0	G	77614132	C	G	77614132	2	3	336	1	0	0	0	0	0	0	0	1	13599	639	23	3		3	ROBO2	3	77614132	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	9147679	77614132	120408298	140	62258											
CEP97	79598	broad.mit.edu	37	chr3	101446256	101446256	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctaataatcggctggttcgGatgatgggtgtggccaagct	8	11	15	7	2	0	1	0	1	0	0	2	2	0	2	1	5	1	4	1	5	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:101446256G>T	ENST00000341893.3	+	3	968	c.216G>T	c.(214-216)cgG>cgT	p.R72R	CEP97_ENST00000327230.4_Silent_p.R72R|CEP97_ENST00000494050.1_Silent_p.R72R			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	72						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GGCTGGTTCGGATGATGGGTG	0.348													7	127					5.18039e-06	6.40024e-06	1	0	T	101446256	G	T	101446256	2	4	336	1	0	0	0	0	0	0	0	1	3292	1161	41	2		2	CEP97	3	101446256	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	23832124	101446256	96576174	141	62259											
CBLB	868	broad.mit.edu	37	chr3	105456029	105456029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttacctgtgtaacttttaTatggtcatgaggtgtaggtt	8	17	10	6	0	1	1	1	1	0	0	1	1	1	1	2	3	2	3	2	3	5	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:105456029T>C	ENST00000264122.4	-	8	1378	c.1057A>G	c.(1057-1059)Ata>Gta	p.I353V	CBLB_ENST00000405772.1_Missense_Mutation_p.I353V|CBLB_ENST00000403724.1_Missense_Mutation_p.I353V|CBLB_ENST00000394027.3_Missense_Mutation_p.I375V|CBLB_ENST00000545639.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	353	Linker.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GTAACTTTTATATGGTCATGA	0.299			Mis S		AML								6	75					0	0	0	0	C	105456029	T	C	105456029	3	2	336	1	0	0	0	0	1	0	0	0	2726	1406	49	5	1939	5	CBLB	3	105456029	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	4009773	105456029	92566401	142	62260											
DPPA4	55211	broad.mit.edu	37	chr3	109050613	109050613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggcaaaggcacacaggcGcttatatgcatccaatttct	12	10	9	10	1	1	0	0	0	1	0	2	0	2	0	1	3	1	5	1	3	5	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:109050613G>T	ENST00000335658.6	-	4	412	c.358C>A	c.(358-360)Cgc>Agc	p.R120S	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	120						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GCACACAGGCGCTTATATGCA	0.433													13	115					0.000151284	0.000174376	1	0	T	109050613	G	T	109050613	3	4	336	1	0	0	0	0	1	0	0	0	4772	1087	38	3	572	3	DPPA4	3	109050613	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3594584	109050613	88971817	143	62261											
CD200R1	131450	broad.mit.edu	37	chr3	112642541	112642541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacttataaagtatggaggtCtgtgtcaacttcactttgta	12	15	8	6	0	3	0	2	0	1	0	3	1	3	1	0	2	2	2	0	2	7	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:112642541C>T	ENST00000471858.1	-	7	1193	c.961G>A	c.(961-963)Gac>Aac	p.D321N	CD200R1_ENST00000295863.4_3'UTR|CD200R1_ENST00000308611.3_Missense_Mutation_p.D344N	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	321					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTATGGAGGTCTGTGTCAACT	0.378													7	63					0	0	0	0	T	112642541	C	T	112642541	3	4	336	1	0	0	0	0	1	0	0	0	3010	913	32	2	20	2	CD200R1	3	112642541	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	3591928	112642541	85379889	144	62262											
QTRTD1	79691	broad.mit.edu	37	chr3	113795705	113795705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtggcttccttctggatgGttttcaaggaaatccaacaa	10	12	11	8	0	2	0	1	0	1	0	4	2	4	2	2	5	1	2	2	5	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:113795705G>T	ENST00000281273.4	+	7	919	c.662G>T	c.(661-663)gGt>gTt	p.G221V	QTRTD1_ENST00000493014.1_Missense_Mutation_p.G115V|QTRTD1_ENST00000485050.1_Missense_Mutation_p.G233V|QTRTD1_ENST00000479882.1_Missense_Mutation_p.G98V	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	221					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CTTCTGGATGGTTTTCAAGGA	0.542													8	91					0.00307968	0.00332671	1	0	T	113795705	G	T	113795705	3	4	336	1	0	0	0	0	1	0	0	0	12968	1261	44	4	680	4	QTRTD1	3	113795705	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1153164	113795705	84226725	145	62263											
PLA1A	51365	broad.mit.edu	37	chr3	119331897	119331897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggacctgagtacaccagggCcagtgtggaagagcgcttgg	9	7	16	9	1	0	2	0	1	0	1	0	4	0	4	3	4	2	2	3	4	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:119331897C>A	ENST00000273371.4	+	5	668	c.596C>A	c.(595-597)gCc>gAc	p.A199D	PLA1A_ENST00000495992.1_Missense_Mutation_p.A183D|PLA1A_ENST00000494440.1_Missense_Mutation_p.A183D|PLA1A_ENST00000488919.1_Missense_Mutation_p.A26D	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	199					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TACACCAGGGCCAGTGTGGAA	0.582													4	16					1.23904e-05	1.49648e-05	1	0	A	119331897	C	A	119331897	3	1	336	1	0	0	0	0	1	0	0	0	12060	739	26	4	614	4	PLA1A	3	119331897	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	5536192	119331897	78690533	146	62264											
POLQ	10721	broad.mit.edu	37	chr3	121209254	121209254	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatccactgccttccgggCactacacaaggagatgggaa	11	7	10	13	1	1	1	1	0	0	1	3	3	3	2	3	3	2	1	3	3	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:121209254C>A	ENST00000264233.5	-	16	2652	c.2522_splice	c.e16-1	p.A842_splice		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	842					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCCTTCCGGGCACTACACAAG	0.428								DNA polymerases (catalytic subunits)					7	117					0.00307968	0.00332671	1	0	A	121209254	C	A	121209254	5	1	336	1	0	0	0	0	0	0	1	0	12280	724	25	4	5308	4	POLQ	3	121209254	Splice_Site	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1877357	121209254	76813176	147	62265											
ABTB1	80325	broad.mit.edu	37	chr3	127399180	127399180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggcagcccggcaggaGacggactctatcccgctggt	6	7	15	13	3	1	1	0	0	1	1	2	3	2	2	2	5	1	4	2	5	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:127399180G>T	ENST00000468137.1	+	11	1489	c.873G>T	c.(871-873)gaG>gaT	p.E291D	ABTB1_ENST00000232744.8_Missense_Mutation_p.E433D|ABTB1_ENST00000453791.2_Missense_Mutation_p.E291D|ABTB1_ENST00000393363.3_Missense_Mutation_p.E291D			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	433	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CCCGGCAGGAGACGGACTCTA	0.677													4	17					0.000602214	0.000673014	1	0	T	127399180	G	T	127399180	3	4	336	1	0	0	0	0	1	0	0	0	102	933	33	2	1345	2	ABTB1	3	127399180	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	6189926	127399180	70623250	148	62266											
SLCO2A1	6578	broad.mit.edu	37	chr3	133661523	133661523	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagatgaggaagatggcCgggagcaggaagtgggcaca	14	3	19	5	1	0	3	0	1	0	2	0	7	0	6	1	6	1	2	1	6	3	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:133661523C>T	ENST00000310926.4	-	11	1824	c.1551G>A	c.(1549-1551)ccG>ccA	p.P517P	SLCO2A1_ENST00000493729.1_Silent_p.P441P	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	517					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGAAGATGGCCGGGAGCAGGA	0.562													6	90					0	0	0	0	T	133661523	C	T	133661523	2	4	336	1	0	0	0	0	0	0	0	1	14814	639	23	1		1	SLCO2A1	3	133661523	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	6262343	133661523	64360907	149	62267											
KY	339855	broad.mit.edu	37	chr3	134338041	134338041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcacagttggtcttctggGtccgcaggatgtcagtgggt	6	12	14	9	1	4	0	2	0	2	0	5	1	5	1	1	4	0	2	1	4	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:134338041G>A	ENST00000508956.1	-	7	653	c.596C>T	c.(595-597)aCc>aTc	p.T199I	KY_ENST00000423778.2_Missense_Mutation_p.T220I|KY_ENST00000508041.1_5'UTR|KY_ENST00000503669.1_Missense_Mutation_p.T220I			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	220						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GGTCTTCTGGGTCCGCAGGAT	0.562													10	94					0	0	0	0	A	134338041	G	A	134338041	3	1	336	1	0	0	0	0	1	0	0	0	8639	1261	44	4	1342	4	KY	3	134338041	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	676518	134338041	63684389	150	62268											
EPHB1	2047	broad.mit.edu	37	chr3	134885831	134885831	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcgataagctccagcAttacagcacaggccgaggta	13	6	11	11	2	0	0	0	0	0	0	1	2	1	0	2	2	6	5	2	2	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:134885831A>G	ENST00000398015.3	+	9	2112	c.1742A>G	c.(1741-1743)cAt>cGt	p.H581R	EPHB1_ENST00000493838.1_Missense_Mutation_p.H142R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	581						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAGCTCCAGCATTACAGCACA	0.542													12	219					0	0	0	0	G	134885831	A	G	134885831	3	3	336	1	0	0	0	0	1	0	0	0	5212	217	8	5	1776	5	EPHB1	3	134885831	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	547790	134885831	63136599	151	62269											
PRR23B	389151	broad.mit.edu	37	chr3	138738769	138738769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggagcggcgagcgcgcGtggggacctggactccccac	5	4	17	15	6	0	0	0	0	0	0	2	4	2	3	4	5	2	0	4	5	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:138738769G>A	ENST00000329447.5	-	1	999	c.735C>T	c.(733-735)caC>caT	p.H245H	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	245	Pro-rich.							p.H245Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGAGCGCGCGTGGGGACCTG	0.667													9	54					0	0	0	0	A	138738769	G	A	138738769	2	1	336	1	0	0	0	0	0	0	0	1	12675	1136	40	1		1	PRR23B	3	138738769	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3852938	138738769	59283661	152	62270											
ZIC4	84107	broad.mit.edu	37	chr3	147113908	147113908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttggagcagaggctcgggGtcgcggtgccgtcggccgcc	3	8	18	12	6	0	1	0	0	0	1	3	2	0	2	3	6	2	2	3	6	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:147113908G>A	ENST00000383075.3	-	3	931	c.419C>T	c.(418-420)aCc>aTc	p.T140I	ZIC4_ENST00000484399.1_Missense_Mutation_p.T140I|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.T178I|ZIC4_ENST00000525172.2_Missense_Mutation_p.T190I|ZIC4_ENST00000473123.1_Missense_Mutation_p.T140I	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	140						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GAGGCTCGGGGTCGCGGTGCC	0.652													17	150					0	0	0	0	A	147113908	G	A	147113908	3	1	336	1	0	0	0	0	1	0	0	0	17776	1261	44	4	597	4	ZIC4	3	147113908	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	8375139	147113908	50908522	153	62271											
IGSF10	285313	broad.mit.edu	37	chr3	151160962	151160962	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattactactcttcgctccgAaccagtggaactggtagcaa	11	10	8	12	2	1	0	0	0	1	0	3	2	2	1	2	2	5	3	2	2	6	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:151160962A>C	ENST00000282466.3	-	5	5772	c.5773T>G	c.(5773-5775)Tcg>Gcg	p.S1925A		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1925	Ig-like C2-type 5.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTCGCTCCGAACCAGTGGAA	0.443													14	181					0	0	0	0	C	151160962	A	C	151160962	3	2	336	1	0	0	0	0	1	0	0	0	7650	246	9	5	2154	5	IGSF10	3	151160962	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	4047054	151160962	46861468	154	62272											
PLCH1	23007	broad.mit.edu	37	chr3	155303875	155303875	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacatttgtctgactttTcttcggggcagattaacatt	10	16	8	7	1	2	3	0	2	2	1	3	3	2	3	0	2	2	1	0	2	2	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:155303875T>C	ENST00000460012.1	-	5	846	c.489A>G	c.(487-489)agA>agG	p.R163R	PLCH1_ENST00000494598.1_Silent_p.R181R|PLCH1_ENST00000334686.6_Silent_p.R163R|PLCH1_ENST00000414191.1_Silent_p.R163R|PLCH1_ENST00000340059.7_Silent_p.R181R|PLCH1_ENST00000447496.2_Silent_p.R181R			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	181	EF-hand 1.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCTGACTTTTCTTCGGGGCA	0.353													15	103					0	0	0	0	C	155303875	T	C	155303875	2	2	336	1	0	0	0	0	0	0	0	1	12109	1780	62	5		5	PLCH1	3	155303875	Silent	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	4142913	155303875	42718555	155	62273											
PTX3	5806	broad.mit.edu	37	chr3	157160214	157160214	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agatttttggaagcgtgcatCcagtgagaccaatgaggctt	11	11	12	7	1	0	3	0	2	0	2	1	5	1	4	2	2	2	2	2	2	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:157160214C>G	ENST00000295927.3	+	3	737	c.592C>G	c.(592-594)Cca>Gca	p.P198A	VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	198	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AAGCGTGCATCCAGTGAGACC	0.378													39	103					0	0	0	0	G	157160214	C	G	157160214	3	3	336	1	0	0	0	0	1	0	0	0	12904	855	30	2	602	2	PTX3	3	157160214	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1856339	157160214	40862216	156	62274											
B3GALNT1	8706	broad.mit.edu	37	chr3	160804104	160804104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attatatgtgtctaaaaaatCttgtcggattatgtcaccat	13	16	6	6	1	3	0	1	0	2	0	4	1	3	1	1	1	0	0	1	1	6	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:160804104C>T	ENST00000392781.2	-	8	1186	c.439G>A	c.(439-441)Gat>Aat	p.D147N	B3GALNT1_ENST00000473285.1_Missense_Mutation_p.D147N|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.D147N|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.D147N|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.D147N|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.D147N	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	147					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TCTAAAAAATCTTGTCGGATT	0.383													17	101					0	0	0	0	T	160804104	C	T	160804104	3	4	336	1	0	0	0	0	1	0	0	0	1249	913	32	2	560	2	B3GALNT1	3	160804104	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	3643890	160804104	37218326	157	62275											
OTOL1	131149	broad.mit.edu	37	chr3	161217019	161217019	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggagttgttgggccccAaggccctagaggctacaaag	11	6	13	11	0	0	1	0	0	0	1	0	2	0	2	4	4	1	3	4	4	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:161217019A>T	ENST00000327928.4	+	2	425	c.425A>T	c.(424-426)cAa>cTa	p.Q142L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	142	Collagen-like 1.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GTTGGGCCCCAAGGCCCTAGA	0.428													9	19					0	0	0	0	T	161217019	A	T	161217019	3	4	336	1	0	0	0	0	1	0	0	0	11375	130	5	5	431	5	OTOL1	3	161217019	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	412915	161217019	36805411	158	62276											
EIF4G1	1981	broad.mit.edu	37	chr3	184041346	184041346	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacggcggctgataaggatCgaggggaagaagatgctgat	12	6	18	5	3	0	4	0	2	0	2	1	8	0	7	0	6	1	2	0	6	3	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:184041346C>T	ENST00000342981.4	+	14	2656	c.2242C>T	c.(2242-2244)Cga>Tga	p.R748*	EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.R754*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.R660*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.R708*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.R754*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.R707*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.R754*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.R747*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.R584*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.R583*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.R552*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.R551*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.R661*|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.R747*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	747	MIF4G.|eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGATAAGGATCGAGGGGAAGA	0.502													8	132					0	0	0	0	T	184041346	C	T	184041346	4	4	336	1	0	0	0	0	0	1	0	0	5074	876	31	1	2289	1	EIF4G1	3	184041346	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	22824327	184041346	13981084	159	62277											
MASP1	5648	broad.mit.edu	37	chr3	186974553	186974553	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accctcctccagctcgatggTatacaggcattcagagctct	9	10	8	14	1	2	1	1	0	1	1	5	2	4	1	3	2	3	4	3	2	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:186974553T>C	ENST00000337774.5	-	5	1032	c.643A>G	c.(643-645)Acc>Gcc	p.T215A	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.T215A|MASP1_ENST00000169293.6_Missense_Mutation_p.T215A|MASP1_ENST00000392472.2_Missense_Mutation_p.T102A|MASP1_ENST00000392470.2_Missense_Mutation_p.T189A	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	215	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGCTCGATGGTATACAGGCAT	0.512													9	131					0	0	0	0	C	186974553	T	C	186974553	3	2	336	1	0	0	0	0	1	0	0	0	9391	1638	57	5	2449	5	MASP1	3	186974553	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	2933207	186974553	11047877	160	62278											
RNF168	165918	broad.mit.edu	37	chr3	196215545	196215545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagcagacgaactggctgaTagtcatcagctatttcatat	12	12	9	8	1	3	3	3	2	0	1	3	4	3	3	0	1	3	3	0	1	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:196215545T>C	ENST00000318037.3	-	2	905	c.311A>G	c.(310-312)tAt>tGt	p.Y104C		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	104					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		AACTGGCTGATAGTCATCAGC	0.313													14	37					0	0	0	0	C	196215545	T	C	196215545	3	2	336	1	0	0	0	0	1	0	0	0	13544	1406	49	5	1424	5	RNF168	3	196215545	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	9240992	196215545	1806885	161	62279											
WDR53	348793	broad.mit.edu	37	chr3	196281250	196281250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcatctgttactgaagcGttagtatttccaccctgctt	7	16	6	12	1	2	1	1	1	1	0	4	1	4	1	3	0	3	4	3	0	4	5	rs149053894	by1000genomes	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:196281250G>A	ENST00000332629.5	-	4	1476	c.909C>T	c.(907-909)aaC>aaT	p.N303N	WDR53_ENST00000429115.1_Silent_p.N142N|WDR53_ENST00000433160.1_Silent_p.N144N	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	303										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TTACTGAAGCGTTAGTATTTC	0.398													14	124					0	0	0	0	A	196281250	G	A	196281250	2	1	336	1	0	0	0	0	0	0	0	1	17401	1136	40	1		1	WDR53	3	196281250	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	65705	196281250	1741180	162	62280											
POLN	353497	broad.mit.edu	37	chr4	2178012	2178012	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagtttagagcaaaggTccattgtaagtctgtagagt	11	13	10	7	0	2	2	1	0	1	2	3	2	3	2	2	1	1	4	2	1	4	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:2178012T>A	ENST00000511885.2	-	9	1582	c.1229A>T	c.(1228-1230)gAc>gTc	p.D410V	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.D410V			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	410					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AGAGCAAAGGTCCATTGTAAG	0.403								DNA polymerases (catalytic subunits)					12	112					0	0	0	0	A	2178012	T	A	2178012	3	1	336	1	0	0	0	0	1	0	0	0	12279	1667	58	5	1545	5	POLN	4	2178012	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08		2178012	188976264	163	62281											
ZFYVE28	57732	broad.mit.edu	37	chr4	2321975	2321975	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcggtccaagttcagaggtCcgtccgcatagaccacgagg	9	7	13	12	4	1	2	1	0	0	2	4	3	4	2	4	3	1	2	4	3	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:2321975C>G	ENST00000290974.2	-	7	1064	c.725G>C	c.(724-726)gGa>gCa	p.G242A	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G172A|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G212A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	242					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.G242E(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTTCAGAGGTCCGTCCGCATA	0.602													4	47					0	0	0	0	G	2321975	C	G	2321975	3	3	336	1	0	0	0	0	1	0	0	0	17765	855	30	2	1966	2	ZFYVE28	4	2321975	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	143963	2321975	188832301	164	62282											
RGS12	6002	broad.mit.edu	37	chr4	3432301	3432301	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagggctttagcaagagaAgcgccacaggcaacggccgg	12	3	14	12	3	0	1	0	0	0	1	0	2	0	1	3	4	3	3	3	4	5	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:3432301A>C	ENST00000336727.3	+	17	4637	c.3733A>C	c.(3733-3735)Agc>Cgc	p.S1245R	RGS12_ENST00000344733.5_Missense_Mutation_p.S1245R|RGS12_ENST00000338806.4_Missense_Mutation_p.S597R|RGS12_ENST00000306648.7_3'UTR|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.S1245R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1245						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TAGCAAGAGAAGCGCCACAGG	0.652													6	30					0	0	0	0	C	3432301	A	C	3432301	3	2	336	1	0	0	0	0	1	0	0	0	13378	72	3	5	3853	5	RGS12	4	3432301	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	1110326	3432301	187721975	165	62283											
CD38	952	broad.mit.edu	37	chr4	15780132	15780132	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcgtcagtatcctggTcctgatcctcgtcgtggtgc	3	14	12	12	3	2	1	1	1	1	0	7	1	5	1	3	3	1	1	3	3	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:15780132T>C	ENST00000226279.2	+	1	232	c.95T>C	c.(94-96)gTc>gCc	p.V32A		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	32					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						AGTATCCTGGTCCTGATCCTC	0.662													14	105					0	0	0	0	C	15780132	T	C	15780132	3	2	336	1	0	0	0	0	1	0	0	0	3038	1667	58	5	97	5	CD38	4	15780132	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	12347831	15780132	175374144	166	62284											
SLIT2	9353	broad.mit.edu	37	chr4	20525726	20525726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccgattgagaccagtggtgCccgttgcaccagcccccgcc	6	6	11	18	3	0	1	0	1	0	1	0	3	0	1	7	1	3	2	7	1	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:20525726C>A	ENST00000504154.1	+	14	1616	c.1364C>A	c.(1363-1365)gCc>gAc	p.A455D	SLIT2_ENST00000503823.1_Missense_Mutation_p.A455D|SLIT2_ENST00000503837.1_Missense_Mutation_p.A459D|SLIT2_ENST00000273739.5_Missense_Mutation_p.A459D	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	455	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACCAGTGGTGCCCGTTGCACC	0.488													13	134					1.5842e-08	2.14052e-08	1	0	A	20525726	C	A	20525726	3	1	336	1	0	0	0	0	1	0	0	0	14828	739	26	4	1418	4	SLIT2	4	20525726	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	4745594	20525726	170628550	167	62285											
SLIT2	9353	broad.mit.edu	37	chr4	20599920	20599920	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagacagcggaatcctcctGtataagggtgacaaagacca	15	6	11	9	1	0	3	0	1	0	2	2	5	2	4	3	2	1	1	3	2	5	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:20599920G>C	ENST00000504154.1	+	33	3846	c.3594G>C	c.(3592-3594)ctG>ctC	p.L1198L	SLIT2_ENST00000503823.1_Silent_p.L1190L|SLIT2_ENST00000503837.1_Silent_p.L1194L|SLIT2_ENST00000273739.5_Silent_p.L1211L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1198	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAATCCTCCTGTATAAGGGTG	0.483													6	107					0	0	0	0	C	20599920	G	C	20599920	2	2	336	1	0	0	0	0	0	0	0	1	14828	1364	48	4		4	SLIT2	4	20599920	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	74194	20599920	170554356	168	62286											
SLIT2	9353	broad.mit.edu	37	chr4	20618719	20618719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgtgtgcccatggcaCatgccagcccagcagccagg	9	5	14	13	0	0	0	0	0	0	0	0	1	0	0	4	3	5	2	4	3	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:20618719C>A	ENST00000504154.1	+	35	4286	c.4034C>A	c.(4033-4035)aCa>aAa	p.T1345K	SLIT2_ENST00000503823.1_Missense_Mutation_p.T1337K|SLIT2_ENST00000503837.1_Missense_Mutation_p.T1341K|SLIT2_ENST00000273739.5_Missense_Mutation_p.T1358K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1345	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCCCATGGCACATGCCAGCCC	0.577													7	57					0.248553	0.249789	1	0	A	20618719	C	A	20618719	3	1	336	1	0	0	0	0	1	0	0	0	14828	478	17	4	4172	4	SLIT2	4	20618719	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	18799	20618719	170535557	169	62287											
PCDH7	5099	broad.mit.edu	37	chr4	30725738	30725738	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attctaatcatcttaattgtAgtgatggcaaggtactgcag	12	14	9	6	0	3	1	1	1	2	0	3	1	3	1	0	2	2	4	0	2	5	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:30725738A>G	ENST00000361762.2	+	1	3702	c.2694A>G	c.(2692-2694)gtA>gtG	p.V898V	PCDH7_ENST00000543491.1_Silent_p.V898V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	898					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCTTAATTGTAGTGATGGCAA	0.408													13	61					0	0	0	0	G	30725738	A	G	30725738	2	3	336	1	0	0	0	0	0	0	0	1	11587	407	15	5		5	PCDH7	4	30725738	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	10107019	30725738	160428538	170	62288											
ATP8A1	10396	broad.mit.edu	37	chr4	42445638	42445638	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagagatgagtagattcCaaaaaacaccacccagagtg	17	5	8	11	0	0	4	0	1	0	3	1	5	1	4	4	0	1	1	4	0	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:42445638C>G	ENST00000381668.5	-	33	3298	c.3067G>C	c.(3067-3069)Gga>Cga	p.G1023R	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G1008R	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1023					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAGTAGATTCCAAAAAACACC	0.448													4	33					0	0	0	0	G	42445638	C	G	42445638	3	3	336	1	0	0	0	0	1	0	0	0	1196	603	21	4	447	4	ATP8A1	4	42445638	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	11719900	42445638	148708638	171	62289											
ATP8A1	10396	broad.mit.edu	37	chr4	42445654	42445654	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attccaaaaaacaccacccaGagtgcgatgctcccccatat	14	7	5	15	1	0	1	0	0	0	1	2	2	2	1	5	0	3	1	5	0	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:42445654G>C	ENST00000381668.5	-	33	3282	c.3051C>G	c.(3049-3051)ctC>ctG	p.L1017L	ATP8A1_ENST00000264449.10_Silent_p.L1002L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1017					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ACACCACCCAGAGTGCGATGC	0.448													4	33					0	0	0	0	C	42445654	G	C	42445654	2	2	336	1	0	0	0	0	0	0	0	1	1196	929	33	2		2	ATP8A1	4	42445654	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	16	42445654	148708622	172	62290											
GABRA2	2555	broad.mit.edu	37	chr4	46252339	46252339	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaattcaaggactgacccCtaatacaggttctctgttta	11	13	6	11	0	3	1	2	1	1	0	4	2	3	2	2	2	1	2	2	2	5	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:46252339C>A	ENST00000510861.1	-	10	1515	c.1342G>T	c.(1342-1344)Ggg>Tgg	p.G448W	GABRA2_ENST00000356504.1_Missense_Mutation_p.G448W|GABRA2_ENST00000507069.1_Missense_Mutation_p.G508W|GABRA2_ENST00000514090.1_Missense_Mutation_p.G448W|GABRA2_ENST00000540012.1_Missense_Mutation_p.G453W|GABRA2_ENST00000381620.4_Missense_Mutation_p.G448W			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	448					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGACTGACCCCTAATACAGGT	0.338													8	57					2.17888e-05	2.58902e-05	1	0	A	46252339	C	A	46252339	3	1	336	1	0	0	0	0	1	0	0	0	6209	681	24	4	17	4	GABRA2	4	46252339	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	3806685	46252339	144901937	173	62291											
GABRA2	2555	broad.mit.edu	37	chr4	46252503	46252504	+	Frame_Shift_Ins	INS	-	-	T																															cttcttgttgggttctggcgINStggttgcactcttggagatg																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:46252503_46252504insT	ENST00000510861.1	-	10	1350_1351	c.1177_1178insA	c.(1177-1179)gccfs	p.A393fs	GABRA2_ENST00000514090.1_Frame_Shift_Ins_p.A393fs|GABRA2_ENST00000356504.1_Frame_Shift_Ins_p.A393fs|GABRA2_ENST00000507069.1_Frame_Shift_Ins_p.A453fs|GABRA2_ENST00000540012.1_Frame_Shift_Ins_p.A398fs|GABRA2_ENST00000381620.4_Frame_Shift_Ins_p.A393fs			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	393					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.T393M(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGGTTCTGGCGTGGTTGCACTC	0.431													27	154	---	---	---	---					T	46252504	-	T	46252503	7	5	336	1	0	1	1	0	0	0	0	0	6209	1145	40	0	181	0	GABRA2	4	46252503	Frame_Shift_Ins	INS	-	TCGA-CV-A45W-01A-11D-A25D-08	164	46252503	144901773	174	62292											
UGT2A3	79799	broad.mit.edu	37	chr4	69811145	69811145	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatatctcagcttttcccAcagtctcacataatgtagtg	10	13	6	12	0	2	0	2	0	2	0	5	0	3	0	2	0	1	2	2	0	3	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:69811145A>C	ENST00000251566.4	-	2	773	c.743T>G	c.(742-744)gTg>gGg	p.V248G	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	248						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCTTTTCCCACAGTCTCACA	0.328													5	62					0	0	0	0	C	69811145	A	C	69811145	3	2	336	1	0	0	0	0	1	0	0	0	17051	159	6	5	860	5	UGT2A3	4	69811145	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	23558642	69811145	121343131	175	62293											
UGT2B7	7364	broad.mit.edu	37	chr4	69964264	69964264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctattcctgtcaggaagacCcactacattatctgagacaa	13	11	6	11	0	3	2	1	1	2	2	4	4	4	3	2	1	1	0	2	1	5	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:69964264C>A	ENST00000305231.7	+	2	774	c.728C>A	c.(727-729)cCc>cAc	p.P243H	UGT2B7_ENST00000508661.1_Missense_Mutation_p.P243H|UGT2B7_ENST00000509763.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	243					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAGGAAGACCCACTACATTA	0.353													16	91					2.31682e-05	2.74084e-05	1	0	A	69964264	C	A	69964264	3	1	336	1	0	0	0	0	1	0	0	0	17058	623	22	4	734	4	UGT2B7	4	69964264	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	153119	69964264	121190012	176	62294											
GC	2638	broad.mit.edu	37	chr4	72631247	72631247	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtggctggtgtttcagAgcagccatgcagagctttcg	6	12	13	10	1	1	2	1	0	0	2	3	2	2	2	2	2	4	5	2	2	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:72631247A>T	ENST00000273951.8	-	4	718	c.375T>A	c.(373-375)gcT>gcA	p.A125A	GC_ENST00000504199.1_Silent_p.A144A|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.A125A	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	125	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GGTGTTTCAGAGCAGCCATGC	0.502													18	128					0	0	0	0	T	72631247	A	T	72631247	2	4	336	1	0	0	0	0	0	0	0	1	6331	291	11	5		5	GC	4	72631247	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	2666983	72631247	118523029	177	62295											
GC	2638	broad.mit.edu	37	chr4	72634065	72634065	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttccgcacagcaggcttCggtcaaggagacaacttcct	9	8	9	15	2	1	1	1	0	0	1	4	2	3	1	3	3	2	3	3	3	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:72634065C>A	ENST00000273951.8	-	3	557	c.214G>T	c.(214-216)Gaa>Taa	p.E72*	GC_ENST00000504199.1_Nonsense_Mutation_p.E91*|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Nonsense_Mutation_p.E72*	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	72	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CAGCAGGCTTCGGTCAAGGAG	0.527													11	26					0.000673444	0.000750542	1	0	A	72634065	C	A	72634065	4	1	336	1	0	0	0	0	0	1	0	0	6331	893	31	3	1250	3	GC	4	72634065	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	2818	72634065	118520211	178	62296											
ADAMTS3	9508	broad.mit.edu	37	chr4	73186517	73186517	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgagatcagatctttgcTgttgggacgcccagcgacac	8	10	13	10	2	2	2	1	1	1	2	2	5	2	3	1	2	2	3	1	2	0	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:73186517T>A	ENST00000286657.4	-	7	1052	c.1016A>T	c.(1015-1017)cAg>cTg	p.Q339L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	339	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGATCTTTGCTGTTGGGACGC	0.448													13	92					0	0	0	0	A	73186517	T	A	73186517	3	1	336	1	0	0	0	0	1	0	0	0	267	1580	55	5	2665	5	ADAMTS3	4	73186517	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	552452	73186517	117967759	179	62297											
BMP2K	55589	broad.mit.edu	37	chr4	79763573	79763573	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcaaatgaataagaagctAcagacgggttttacagaacc	18	8	8	7	1	1	4	1	1	0	3	1	4	1	4	1	1	4	2	1	1	8	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:79763573A>G	ENST00000335016.5	+	4	604	c.438A>G	c.(436-438)ctA>ctG	p.L146L	BMP2K_ENST00000502871.1_Silent_p.L146L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	146	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATAAGAAGCTACAGACGGGTT	0.358													5	41					0	0	0	0	G	79763573	A	G	79763573	2	3	336	1	0	0	0	0	0	0	0	1	1465	378	14	5		5	BMP2K	4	79763573	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	6577056	79763573	111390703	180	62298											
PDHA2	5161	broad.mit.edu	37	chr4	96761496	96761496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttaaatactacaggatGatgctgactgttcgccgcat	10	11	11	9	2	0	2	0	2	0	0	1	3	0	3	1	2	3	4	1	2	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:96761496G>T	ENST00000295266.4	+	1	258	c.195G>T	c.(193-195)atG>atT	p.M65I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	65					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACTACAGGATGATGCTGACTG	0.463													5	59					0.000602214	0.000673014	1	0	T	96761496	G	T	96761496	3	4	336	1	0	0	0	0	1	0	0	0	11736	1290	45	2	197	2	PDHA2	4	96761496	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	16997923	96761496	94392780	181	62299											
C4orf21	55345	broad.mit.edu	37	chr4	113483598	113483598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaatgtttttcaaagtagtCagttctgtgctagcattaca	11	16	8	6	0	3	1	2	1	1	0	3	1	3	1	0	0	3	5	0	0	5	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:113483598C>T	ENST00000505019.1	-	18	4751	c.4626G>A	c.(4624-4626)ctG>ctA	p.L1542L		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCAAAGTAGTCAGTTCTGTGC	0.353													3	10					0	0	0	0	T	113483598	C	T	113483598	2	4	336	1	0	0	0	0	0	0	0	1	2275	813	29	2		2	C4orf21	4	113483598	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	16722102	113483598	77670678	182	62300											
ANK2	287	broad.mit.edu	37	chr4	114277745	114277745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgttagtaacttcggagagCaggaaggtgtcttcctcctc	8	12	12	9	1	1	1	0	0	1	1	5	3	3	2	2	3	2	3	2	3	3	4	rs146085234	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:114277745C>A	ENST00000357077.4	+	38	8024	c.7971C>A	c.(7969-7971)agC>agA	p.S2657R	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2624R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2624					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTCGGAGAGCAGGAAGGTGT	0.483													14	68					1.5842e-08	2.14052e-08	1	0	A	114277745	C	A	114277745	3	1	336	1	0	0	0	0	1	0	0	0	621	709	25	4	8186	4	ANK2	4	114277745	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	794147	114277745	76876531	183	62301											
NDST4	64579	broad.mit.edu	37	chr4	115792067	115792067	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatataaccctaggcggtCatttccatagtttgataaat	12	14	8	7	1	1	1	1	1	0	0	2	1	2	1	2	3	1	2	2	3	7	8			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:115792067C>A	ENST00000264363.2	-	7	2254	c.1576G>T	c.(1576-1578)Gac>Tac	p.D526Y		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	526	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCTAGGCGGTCATTTCCATAG	0.393													5	34					0.014758	0.0154462	1	0	A	115792067	C	A	115792067	3	1	336	1	0	0	0	0	1	0	0	0	10328	826	29	2	1074	2	NDST4	4	115792067	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1514322	115792067	75362209	184	62302											
IL21	59067	broad.mit.edu	37	chr4	123542011	123542011	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttaccaagtcattcacAtaatttttcagctgatcaac	13	14	4	10	0	5	1	4	1	1	0	5	1	5	1	1	0	3	1	1	0	4	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:123542011A>C	ENST00000264497.3	-	1	213	c.156T>G	c.(154-156)taT>taG	p.Y52*	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	45					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AGTCATTCACATAATTTTTCA	0.343													6	63					0	0	0	0	C	123542011	A	C	123542011	4	2	336	1	0	0	0	0	0	1	0	0	7723	224	8	5	352	5	IL21	4	123542011	Nonsense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	7749944	123542011	67612265	185	62303											
LRBA	987	broad.mit.edu	37	chr4	151388886	151388886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttctgattcataattaGtgatgacccaaggaaacact	13	13	7	8	0	3	3	1	3	2	0	3	4	3	4	1	1	1	1	1	1	4	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:151388886G>T	ENST00000535741.1	-	44	7192	c.6719C>A	c.(6718-6720)aCt>aAt	p.T2240N	LRBA_ENST00000357115.3_Missense_Mutation_p.T2251N|LRBA_ENST00000507224.1_Missense_Mutation_p.T2240N|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.T2240N			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2251	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTCATAATTAGTGATGACCCA	0.333													8	61					0.00448238	0.00481618	1	0	T	151388886	G	T	151388886	3	4	336	1	0	0	0	0	1	0	0	0	8995	1029	36	4	1895	4	LRBA	4	151388886	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	27846875	151388886	39765390	186	62304											
FBXW7	55294	broad.mit.edu	37	chr4	153249510	153249510	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcatttgtgatgaccatactCcacctgtatgtcccactaat	10	14	5	12	0	1	2	1	2	0	0	3	2	3	2	4	0	1	1	4	0	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:153249510C>G	ENST00000281708.4	-	9	2497	c.1268G>C	c.(1267-1269)gGa>gCa	p.G423A	FBXW7_ENST00000263981.5_Missense_Mutation_p.G343A|FBXW7_ENST00000603548.1_Missense_Mutation_p.G423A|FBXW7_ENST00000603841.1_Missense_Mutation_p.G423A|FBXW7_ENST00000296555.5_Missense_Mutation_p.G305A|FBXW7_ENST00000393956.3_Missense_Mutation_p.G247A	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	423					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.G423V(7)|p.G343V(2)|p.G305V(2)|p.G184V(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGACCATACTCCACCTGTATG	0.373			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								12	136					0	0	0	0	G	153249510	C	G	153249510	3	3	336	1	0	0	0	0	1	0	0	0	5814	855	30	2	871	2	FBXW7	4	153249510	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1860624	153249510	37904766	187	62305											
DCHS2	54798	broad.mit.edu	37	chr4	155156083	155156083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagaggttggaatttgggctCccaactaagaagataattcc	14	10	10	7	0	0	3	0	0	0	3	2	4	2	4	2	3	1	2	2	3	6	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:155156083C>T	ENST00000357232.3	-	25	8355	c.8356G>A	c.(8356-8358)Gag>Aag	p.E2786K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2786					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATTTGGGCTCCCAACTAAGA	0.393													10	96					0	0	0	0	T	155156083	C	T	155156083	3	4	336	1	0	0	0	0	1	0	0	0	4320	864	30	2	398	2	DCHS2	4	155156083	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1906573	155156083	35998193	188	62306											
PLRG1	5356	broad.mit.edu	37	chr4	155458554	155458554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattcactgtccaaagaccCaggttgcacagctgcgtgaa	11	9	10	11	1	1	3	1	2	0	1	2	3	2	3	2	1	3	3	2	1	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:155458554C>A	ENST00000499023.2	-	14	1495	c.1369G>T	c.(1369-1371)Ggg>Tgg	p.G457W	PLRG1_ENST00000393905.2_Missense_Mutation_p.G457W|PLRG1_ENST00000302078.5_Missense_Mutation_p.G448W	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	457						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TCCAAAGACCCAGGTTGCACA	0.413													12	42					0.00010058	0.000116264	1	0	A	155458554	C	A	155458554	3	1	336	1	0	0	0	0	1	0	0	0	12178	594	21	4	183	4	PLRG1	4	155458554	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	302471	155458554	35695722	189	62307											
FGA	2243	broad.mit.edu	37	chr4	155506784	155506784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatctgccattttatagctCttgctttcaaatgtggagtc	8	17	7	9	0	4	0	2	0	2	0	5	1	4	1	1	1	3	2	1	1	3	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:155506784C>T	ENST00000302053.3	-	5	1875	c.1797G>A	c.(1795-1797)aaG>aaA	p.K599K	FGA_ENST00000403106.3_Silent_p.K599K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	599					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTTTATAGCTCTTGCTTTCAA	0.458													12	65					0	0	0	0	T	155506784	C	T	155506784	2	4	336	1	0	0	0	0	0	0	0	1	5875	912	32	2		2	FGA	4	155506784	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	48230	155506784	35647492	190	62308											
FGG	2266	broad.mit.edu	37	chr4	155526059	155526059	+	Frame_Shift_Del	DEL	C	C	-																															ctggtctgacctgtttggctCcccccaggtggtgttgctgt																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:155526059delC	ENST00000404648.3	-	9	1528	c.1289delG	c.(1288-1290)gafs	p.G430fs	FGG_ENST00000336098.3_Frame_Shift_Del_p.G430fs|FGG_ENST00000407946.1_Frame_Shift_Del_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Del_p.G438fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGTTTGGCTCCCCCCAGGTG	0.448													11	131	---	---	---	---					-	155526059	C	-	155526059	7	5	336	1	0	1	0	1	0	0	0	0	5915	855	30	0	95	0	FGG	4	155526059	Frame_Shift_Del	DEL	C	TCGA-CV-A45W-01A-11D-A25D-08	19275	155526059	35628217	191	62309											
C4orf45	152940	broad.mit.edu	37	chr4	159894304	159894304	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattctccaaccaatttcaCtgacgtactcatgtttatat	11	16	4	10	1	3	1	2	1	1	0	4	1	3	1	2	0	2	3	2	0	6	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:159894304C>A	ENST00000434826.2	-	2	308	c.224G>T	c.(223-225)aGt>aTt	p.S75I	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	75			S -> G (in dbSNP:rs662473).							large_intestine(2)|lung(3)	5						ACCAATTTCACTGACGTACTC	0.373													3	17					0.115264	0.117444	1	0	A	159894304	C	A	159894304	3	1	336	1	0	0	0	0	1	0	0	0	2294	565	20	4	352	4	C4orf45	4	159894304	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	4368245	159894304	31259972	192	62310											
RAPGEF2	9693	broad.mit.edu	37	chr4	160252802	160252802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaatgggtggacacctaagGctgttgaatatcgcgtgtgc	11	10	13	7	2	0	1	0	1	0	0	1	2	0	2	1	3	1	2	1	3	5	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:160252802G>T	ENST00000264431.4	+	9	1532	c.1113G>T	c.(1111-1113)agG>agT	p.R371S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	371	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GACACCTAAGGCTGTTGAATA	0.388													9	93					0.00448238	0.00481618	1	0	T	160252802	G	T	160252802	3	4	336	1	0	0	0	0	1	0	0	0	13126	1194	42	4	1147	4	RAPGEF2	4	160252802	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	358498	160252802	30901474	193	62311											
MARCH1	55016	broad.mit.edu	37	chr4	164506925	164506925	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggaggggtttgagcttggtCtccattatgaagtcatactt	8	14	12	7	1	2	2	1	2	1	0	3	3	2	3	1	4	2	2	1	4	3	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:164506925C>T	ENST00000503008.1	-	6	1375	c.399G>A	c.(397-399)gaG>gaA	p.E133E	MARCH1_ENST00000274056.7_Silent_p.E133E|MARCH1_ENST00000339875.5_Silent_p.E116E|MARCH1_ENST00000514618.1_Silent_p.E389E	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	133					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAGCTTGGTCTCCATTATGA	0.483													14	69					0	0	0	0	T	164506925	C	T	164506925	2	4	336	1	0	0	0	0	0	0	0	1	9367	912	32	2		2	MARCH1	4	164506925	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	4254123	164506925	26647351	194	62312											
STOX2	56977	broad.mit.edu	37	chr4	184931158	184931158	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttccgacggttcacatctGgatatcccagctgaaagaga	11	9	9	12	2	2	2	1	1	1	1	4	5	4	3	3	2	1	2	3	2	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:184931158G>T	ENST00000308497.4	+	3	2602	c.1167G>T	c.(1165-1167)ctG>ctT	p.L389L	STOX2_ENST00000438269.1_Silent_p.L389L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	389					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GTTCACATCTGGATATCCCAG	0.488													4	24					0.00909568	0.00960694	1	0	T	184931158	G	T	184931158	2	4	336	1	0	0	0	0	0	0	0	1	15410	1335	47	4		4	STOX2	4	184931158	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	20424233	184931158	6223118	195	62313											
FAT1	2195	broad.mit.edu	37	chr4	187534479	187534479	+	Frame_Shift_Del	DEL	T	T	-																															ctcctcacgatcaaggggggTtgacgttttcagttcaccta																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:187534479delT	ENST00000441802.2	-	13	9456	c.9247delA	c.(9247-9249)ccfs	p.T3083fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3083	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCAAGGGGGGTTGACGTTTTC	0.443										HNSCC(5;0.00058)			10	37	---	---	---	---					-	187534479	T	-	187534479	7	5	336	1	0	1	0	1	0	0	0	0	5734	1725	60	0	4579	0	FAT1	4	187534479	Frame_Shift_Del	DEL	T	TCGA-CV-A45W-01A-11D-A25D-08	2603321	187534479	3619797	196	62314											
DNAH5	1767	broad.mit.edu	37	chr5	13922416	13922416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggcctccatctgccgcatCtaacatgttaaaactcacct	11	10	5	15	1	3	0	1	0	2	0	4	0	4	0	4	1	3	2	4	1	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:13922416C>G	ENST00000265104.4	-	5	564	c.460G>C	c.(460-462)Gat>Cat	p.D154H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	154	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTGCCGCATCTAACATGTTA	0.463									Kartagener syndrome				8	36					0	0	0	0	G	13922416	C	G	13922416	3	3	336	1	0	0	0	0	1	0	0	0	4641	913	32	2	13714	2	DNAH5	5	13922416	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08		13922416	166992844	197	62315											
CDH12	1010	broad.mit.edu	37	chr5	21802442	21802442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtagctgtgtctttgaaagGgcccgccgagtgaaaccggt	8	9	14	10	4	1	2	0	2	1	0	1	3	1	2	3	2	2	2	3	2	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:21802442G>T	ENST00000382254.1	-	10	2176	c.1090C>A	c.(1090-1092)Cct>Act	p.P364T	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.P364T|CDH12_ENST00000522262.1_Missense_Mutation_p.P324T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	364	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTTTGAAAGGGCCCGCCGAG	0.498										HNSCC(59;0.17)			7	47					0.0381472	0.0391651	1	0	T	21802442	G	T	21802442	3	4	336	1	0	0	0	0	1	0	0	0	3127	1232	43	4	1318	4	CDH12	5	21802442	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	7880026	21802442	159112818	198	62316											
GOLPH3	64083	broad.mit.edu	37	chr5	32126485	32126486	+	Frame_Shift_Del	DEL	GA	GA	-																															ctccaggacgtccgaggcatGagccaggtaaatgagggcca																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:32126485_32126486delGA	ENST00000265070.6	-	4	1044_1045	c.729_730delTC	c.(727-732)gcatfs	p.AH243fs		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	243					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TCCGAGGCATGAGCCAGGTAAA	0.54													18	84	---	---	---	---					-	32126486	GA	-	32126485	7	5	336	1	0	1	0	1	0	0	0	0	6616	1290	45	0	170	0	GOLPH3	5	32126485	Frame_Shift_Del	DEL	GA	TCGA-CV-A45W-01A-11D-A25D-08	10324043	32126485	148788775	199	62317											
ADAMTS12	81792	broad.mit.edu	37	chr5	33658365	33658365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgttacaactgcggtgagGctgacacattcctgaaaggt	11	10	12	8	1	0	3	0	3	0	0	1	4	1	3	1	3	3	2	1	3	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:33658365G>T	ENST00000504830.1	-	7	1449	c.1114C>A	c.(1114-1116)Cct>Act	p.P372T	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P372T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	372	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGCGGTGAGGCTGACACATT	0.507										HNSCC(64;0.19)			20	138					1.01871e-10	1.45943e-10	1	0	T	33658365	G	T	33658365	3	4	336	1	0	0	0	0	1	0	0	0	257	1203	42	4	3742	4	ADAMTS12	5	33658365	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1531880	33658365	147256895	200	62318											
PRLR	5618	broad.mit.edu	37	chr5	35065731	35065731	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtggccggtgcacctgcAgggcccacagccagctcaca	9	4	13	15	1	1	1	1	0	0	1	1	1	1	1	4	3	4	3	4	3	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:35065731A>T	ENST00000382002.5	-	10	1755	c.1329T>A	c.(1327-1329)ccT>ccA	p.P443P	PRLR_ENST00000310101.5_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Silent_p.P342P|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Silent_p.P342P|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	443					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTGCACCTGCAGGGCCCACAG	0.498													30	134					0	0	0	0	T	35065731	A	T	35065731	2	4	336	1	0	0	0	0	0	0	0	1	12611	175	7	5		5	PRLR	5	35065731	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	1407366	35065731	145849529	201	62319											
C9	735	broad.mit.edu	37	chr5	39364602	39364602	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcgagtggggtggcaGggcaggtctggtaaggcatt	6	9	20	6	1	1	0	0	0	1	0	1	1	1	0	0	8	1	5	0	8	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:39364602G>T	ENST00000263408.4	-	0	60				C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9						complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGGGGTGGCAGGGCAGGTCTG	0.512													8	29					0.0381472	0.0391651	1	0	T	39364602	G	T	39364602	1	4	336	1	0	0	0	0	0	0	0	0	2468	1015	35	4		4	C9	5	39364602	Translation_Start_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	4298871	39364602	141550658	202	62320											
DAB2	1601	broad.mit.edu	37	chr5	39376172	39376172	+	Missense_Mutation	SNP	G	G	C																															tgtcagtagatttggtaactGgcagggaaacttgtctggga																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:39376172G>C	ENST00000545653.1	-	12	2641	c.2111C>G	c.(2110-2112)cCa>cGa	p.P704R	DAB2_ENST00000509337.1_Missense_Mutation_p.P704R|DAB2_ENST00000339788.6_Missense_Mutation_p.P507R|DAB2_ENST00000320816.6_Missense_Mutation_p.P725R	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	725	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTTGGTAACTGGCAGGGAAAC	0.428													5	70					0	0	0	0	C	39376172	G	C	39376172	3	2	336	1	0	0	0	0	1	0	0	0	4251	1348	47	4	146	4	DAB2	5	39376172	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	11570	39376172	141539088	203	62321	744	2									
DAB2	1601	broad.mit.edu	37	chr5	39376173	39376173	+	Missense_Mutation	SNP	G	G	T																															gtcagtagatttggtaactgGcagggaaacttgtctgggag																								rs73078542	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:39376173G>T	ENST00000545653.1	-	12	2640	c.2110C>A	c.(2110-2112)Cca>Aca	p.P704T	DAB2_ENST00000509337.1_Missense_Mutation_p.P704T|DAB2_ENST00000339788.6_Missense_Mutation_p.P507T|DAB2_ENST00000320816.6_Missense_Mutation_p.P725T	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	725	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.P725S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGGTAACTGGCAGGGAAACT	0.428													5	73					0.0215528	0.0223551	1	0	T	39376173	G	T	39376173	3	4	336	1	0	0	0	0	1	0	0	0	4251	1203	42	4	147	4	DAB2	5	39376173	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1	39376173	141539087	204	62322	744	2									
C6	729	broad.mit.edu	37	chr5	41160391	41160391	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaacttggctgcatactCttgcaaagctttcctgaggt	9	13	9	10	1	1	1	0	1	1	0	3	2	2	1	1	2	5	4	1	2	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:41160391C>A	ENST00000263413.3	-	11	1801	c.1537G>T	c.(1537-1539)Gag>Tag	p.E513*	C6_ENST00000337836.5_Nonsense_Mutation_p.E513*|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	513	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCTGCATACTCTTGCAAAGCT	0.522													26	96					6.32553e-13	9.39527e-13	1	0	A	41160391	C	A	41160391	4	1	336	1	0	0	0	0	0	1	0	0	2336	922	32	2	1299	2	C6	5	41160391	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1784218	41160391	139754869	205	62323											
FBXO4	26272	broad.mit.edu	37	chr5	41934243	41934243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttttctagaaaggaaaGagatagagcaagggaagagc	16	10	12	3	0	1	4	0	0	1	4	1	7	1	6	0	2	2	1	0	2	6	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:41934243G>A	ENST00000296812.2	+	5	787	c.731G>A	c.(730-732)aGa>aAa	p.R244K	FBXO4_ENST00000281623.3_Missense_Mutation_p.R244K|FBXO4_ENST00000509134.1_Missense_Mutation_p.R244K	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	244					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AGAAAGGAAAGAGATAGAGCA	0.383													4	44					0	0	0	0	A	41934243	G	A	41934243	3	1	336	1	0	0	0	0	1	0	0	0	5793	942	33	2	749	2	FBXO4	5	41934243	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	773852	41934243	138981017	206	62324											
NNT	23530	broad.mit.edu	37	chr5	43704470	43704470	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaagaaaacatgtgacgcGctccaggcgaaagttagaga	15	5	12	9	3	0	3	0	1	0	2	1	5	1	3	2	1	1	2	2	1	5	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:43704470G>C	ENST00000264663.5	+	22	3446	c.3225G>C	c.(3223-3225)gcG>gcC	p.A1075A	NNT_ENST00000512996.2_Silent_p.A944A|NNT_ENST00000344920.4_Silent_p.A1075A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	1075					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CATGTGACGCGCTCCAGGCGA	0.438													13	97					0	0	0	0	C	43704470	G	C	43704470	2	2	336	1	0	0	0	0	0	0	0	1	10580	1074	38	3		3	NNT	5	43704470	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1770227	43704470	137210790	207	62325											
CWC27	10283	broad.mit.edu	37	chr5	64079699	64079699	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttgcgttttaatcggagaGgactggttgccatggcaaat	9	12	14	6	2	0	1	0	0	0	1	1	3	0	2	1	5	2	4	1	5	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:64079699G>T	ENST00000508024.1	+	4	490	c.289G>T	c.(289-291)Gga>Tga	p.G97*	CWC27_ENST00000381070.3_Nonsense_Mutation_p.G97*			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	97	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TAATCGGAGAGGACTGGTTGC	0.393													9	152					5.4927e-09	7.57356e-09	1	0	T	64079699	G	T	64079699	4	4	336	1	0	0	0	0	0	1	0	0	4102	1001	35	4	303	4	CWC27	5	64079699	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	20375229	64079699	116835561	208	62326											
ADAMTS6	11174	broad.mit.edu	37	chr5	64766636	64766636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgcttaaagccactttaGttgtactacgttgatcttgc	9	16	8	8	1	1	1	0	1	1	0	1	1	1	1	1	0	5	5	1	0	5	9			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:64766636G>T	ENST00000536360.1	-	3	1244	c.431C>A	c.(430-432)aCt>aAt	p.T144N				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	144					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AGCCACTTTAGTTGTACTACG	0.348													13	25					1.05317e-09	1.4851e-09	1	0	T	64766636	G	T	64766636	3	4	336	1	0	0	0	0	1	0	0	0	270	1029	36	4	3014	4	ADAMTS6	5	64766636	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	686937	64766636	116148624	209	62327											
NLN	57486	broad.mit.edu	37	chr5	65054572	65054572	+	Missense_Mutation	SNP	G	G	A																															agaccaaacaggtgtacgatGctgttggaatgctcggtatt																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:65054572G>A	ENST00000380985.5	+	2	398	c.220G>A	c.(220-222)Gct>Act	p.A74T	NLN_ENST00000502464.1_Intron	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	74					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GGTGTACGATGCTGTTGGAAT	0.443													7	117					0	0	0	0	A	65054572	G	A	65054572	3	1	336	1	0	0	0	0	1	0	0	0	10537	1319	46	4	226	4	NLN	5	65054572	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	287936	65054572	115860688	210	62328	745	2									
NLN	57486	broad.mit.edu	37	chr5	65054573	65054573	+	Missense_Mutation	SNP	C	C	T																															gaccaaacaggtgtacgatgCtgttggaatgctcggtattg																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:65054573C>T	ENST00000380985.5	+	2	399	c.221C>T	c.(220-222)gCt>gTt	p.A74V	NLN_ENST00000502464.1_Intron	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	74					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GTGTACGATGCTGTTGGAATG	0.443													7	115					0	0	0	0	T	65054573	C	T	65054573	3	4	336	1	0	0	0	0	1	0	0	0	10537	797	28	4	227	4	NLN	5	65054573	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1	65054573	115860687	211	62329	745	2									
CRHBP	1393	broad.mit.edu	37	chr5	76264621	76264621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaacacgtaaatcgtGtgacttttgagtatcgtcag	12	12	11	6	3	1	2	1	2	0	0	3	3	1	3	0	1	1	2	0	1	5	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:76264621G>A	ENST00000274368.4	+	7	1302	c.880G>A	c.(880-882)Gtg>Atg	p.V294M	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	294					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CGTAAATCGTGTGACTTTTGA	0.453													5	64					0	0	0	0	A	76264621	G	A	76264621	3	1	336	1	0	0	0	0	1	0	0	0	3900	1377	48	4	906	4	CRHBP	5	76264621	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	11210048	76264621	104650639	212	62330											
BHMT2	23743	broad.mit.edu	37	chr5	78373342	78373342	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtggggaggttgtgattGgagatggcagctttctcatt	8	13	16	4	0	1	3	1	1	1	2	2	5	1	4	0	5	1	3	0	5	0	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:78373342G>T	ENST00000255192.3	+	2	139	c.73G>T	c.(73-75)Gga>Tga	p.G25*	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Nonsense_Mutation_p.G25*	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	25	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGTTGTGATTGGAGATGGCAG	0.488													8	114					0.00307968	0.00332671	1	0	T	78373342	G	T	78373342	4	4	336	1	0	0	0	0	0	1	0	0	1431	1349	47	4	79	4	BHMT2	5	78373342	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2108721	78373342	102541918	213	62331											
ZFYVE16	9765	broad.mit.edu	37	chr5	79743855	79743855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttacagacagtaaacaCagtggatcattcccattcta	14	13	5	9	0	2	1	1	0	1	1	3	2	3	2	1	1	2	1	1	1	5	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:79743855C>T	ENST00000338008.5	+	7	2915	c.2735C>T	c.(2734-2736)aCa>aTa	p.T912I	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.T912I|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.T912I	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	912					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACAGTAAACACAGTGGATCAT	0.318													5	37					0	0	0	0	T	79743855	C	T	79743855	3	4	336	1	0	0	0	0	1	0	0	0	17759	478	17	4	2757	4	ZFYVE16	5	79743855	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1370513	79743855	101171405	214	62332											
ST8SIA4	7903	broad.mit.edu	37	chr5	100191928	100191928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctttgaccatgaaagcagGaatccaaaggacactgtcat	14	9	8	10	0	1	2	1	2	0	0	3	4	3	4	3	2	1	1	3	2	3	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:100191928G>A	ENST00000231461.5	-	4	986	c.676C>T	c.(676-678)Cct>Tct	p.P226S		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	226					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATGAAAGCAGGAATCCAAAGG	0.418													9	78					0	0	0	0	A	100191928	G	A	100191928	3	1	336	1	0	0	0	0	1	0	0	0	15324	1174	41	2	411	2	ST8SIA4	5	100191928	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	20448073	100191928	80723332	215	62333											
MCC	4163	broad.mit.edu	37	chr5	112406805	112406805	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacctgtactgcaaggcCagcctcagcgctgtggcatt	7	9	11	14	1	1	0	1	0	0	0	1	0	1	0	4	2	5	4	4	2	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:112406805C>T	ENST00000302475.4	-	10	1904	c.1341G>A	c.(1339-1341)ctG>ctA	p.L447L	MCC_ENST00000515367.2_Silent_p.L384L|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.L637L	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	447					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ACTGCAAGGCCAGCCTCAGCG	0.483													8	77					0	0	0	0	T	112406805	C	T	112406805	2	4	336	1	0	0	0	0	0	0	0	1	9442	581	21	4		4	MCC	5	112406805	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	12214877	112406805	68508455	216	62334											
FNIP1	96459	broad.mit.edu	37	chr5	131007220	131007220	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaaggtatctcatcctCttctgcccaatcttcttgct	9	14	6	12	0	5	0	1	0	5	0	7	1	6	1	2	2	2	2	2	2	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:131007220C>A	ENST00000307968.7	-	13	2832	c.2833G>T	c.(2833-2835)Gag>Tag	p.E945*	FNIP1_ENST00000510461.1_Nonsense_Mutation_p.E973*|FNIP1_ENST00000307954.8_Nonsense_Mutation_p.E928*|FNIP1_ENST00000514667.1_Intron	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ATCTCATCCTCTTCTGCCCAA	0.403													10	95					3.86212e-05	4.52916e-05	1	0	A	131007220	C	A	131007220	4	1	336	1	0	0	0	0	0	1	0	0	6020	922	32	2	603	2	FNIP1	5	131007220	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	18600415	131007220	49908040	217	62335											
PCDHA4	56144	broad.mit.edu	37	chr5	140187595	140187595	+	Frame_Shift_Del	DEL	G	G	-																															atttagacgaaggattgaatGgggacattgtttattcattc																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140187595delG	ENST00000530339.1	+	1	823	c.823delG	c.(823-825)ggfs	p.G275fs	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Frame_Shift_Del_p.G275fs|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Frame_Shift_Del_p.G275fs|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATTGAATGGGGACATTGT	0.318													12	79	---	---	---	---					-	140187595	G	-	140187595	7	5	336	1	0	1	0	1	0	0	0	0	11597	1348	47	0	825	0	PCDHA4	5	140187595	Frame_Shift_Del	DEL	G	TCGA-CV-A45W-01A-11D-A25D-08	9180375	140187595	40727665	218	62336											
PCDHA6	56142	broad.mit.edu	37	chr5	140208346	140208346	+	Frame_Shift_Del	DEL	G	G	-																															ggggcaaacctgagctcacaGgcactgttcagctgctggtc																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140208346delG	ENST00000529310.1	+	1	784	c.670delG	c.(670-672)gcfs	p.G224fs	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Frame_Shift_Del_p.G224fs|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCTCACAGGCACTGTTCA	0.453													7	79	---	---	---	---					-	140208346	G	-	140208346	7	5	336	1	0	1	0	1	0	0	0	0	11599	1000	35	0	672	0	PCDHA6	5	140208346	Frame_Shift_Del	DEL	G	TCGA-CV-A45W-01A-11D-A25D-08	20751	140208346	40706914	219	62337											
PCDHA7	56141	broad.mit.edu	37	chr5	140214112	140214112	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaacttcgtgggccgcatCgcgcaggacctggggctgga	6	6	17	12	4	0	0	0	0	0	0	2	2	0	2	2	6	1	4	2	6	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140214112C>T	ENST00000525929.1	+	1	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.I48I|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGCATCGCGCAGGACC	0.597													15	117					0	0	0	0	T	140214112	C	T	140214112	2	4	336	1	0	0	0	0	0	0	0	1	11600	874	31	1		1	PCDHA7	5	140214112	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	5766	140214112	40701148	220	62338											
PCDHA8	56140	broad.mit.edu	37	chr5	140221704	140221704	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagttatcaaactgaatgcTtctgatccggatgaaggagc	13	10	10	8	1	2	3	1	3	1	0	3	5	3	5	1	2	3	2	1	2	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140221704T>C	ENST00000531613.1	+	1	798	c.798T>C	c.(796-798)gcT>gcC	p.A266A	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.A266A|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTGAATGCTTCTGATCCGG	0.388													15	46					0	0	0	0	C	140221704	T	C	140221704	2	2	336	1	0	0	0	0	0	0	0	1	11601	1596	56	5		5	PCDHA8	5	140221704	Silent	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	7592	140221704	40693556	221	62339											
PCDHB7	56129	broad.mit.edu	37	chr5	140554308	140554308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtaccgccaggctgctgaGcgagcgcgacgcagccaagc	8	3	15	15	6	0	1	0	1	0	0	0	3	0	1	3	1	6	4	3	1	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140554308G>A	ENST00000231137.3	+	1	2066	c.1892G>A	c.(1891-1893)aGc>aAc	p.S631N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		631	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCTGCTGAGCGAGCGCGAC	0.687													10	160					0	0	0	0	A	140554308	G	A	140554308	3	1	336	1	0	0	0	0	1	0	0	0	11618	971	34	4	1894	4	PCDHB7	5	140554308	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	332604	140554308	40360952	222	62340											
PCDHB11	56125	broad.mit.edu	37	chr5	140579830	140579830	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtgcgaaggatttagaTgtaggaatcaatgctgtaaa	16	10	12	3	1	1	1	1	0	0	1	1	5	1	3	0	2	2	3	0	2	8	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140579830T>C	ENST00000354757.3	+	1	483	c.483T>C	c.(481-483)gaT>gaC	p.D161D	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		161	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGATTTAGATGTAGGAATCA	0.408													5	83					0	0	0	0	C	140579830	T	C	140579830	2	2	336	1	0	0	0	0	0	0	0	1	11607	1461	51	5		5	PCDHB11	5	140579830	Silent	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	25522	140579830	40335430	223	62341											
PCDHB13	56123	broad.mit.edu	37	chr5	140596039	140596039	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccagtgccctgggaaaGaaatacaaggaaattctacc	14	7	8	12	0	1	1	0	0	1	1	2	3	2	3	4	2	3	0	4	2	6	3	rs138168445	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140596039G>T	ENST00000341948.4	+	1	2531	c.2344G>T	c.(2344-2346)Gaa>Taa	p.E782*		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		782					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGGGAAAGAAATACAAGG	0.438													26	61					1.64293e-13	2.46288e-13	1	0	T	140596039	G	T	140596039	4	4	336	1	0	0	0	0	0	1	0	0	11609	943	33	2	2346	2	PCDHB13	5	140596039	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	16209	140596039	40319221	224	62342											
PCDHGB2	56103	broad.mit.edu	37	chr5	140740025	140740025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgttctggatttcgataCtgtcgctgaaaatccactaa	10	14	9	8	2	1	1	0	1	1	0	4	3	2	2	1	1	1	2	1	1	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140740025C>A	ENST00000522605.1	+	1	323	c.323C>A	c.(322-324)aCt>aAt	p.T108N	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTCGATACTGTCGCTGAA	0.383													18	77					2.35188e-11	3.41784e-11	1	0	A	140740025	C	A	140740025	3	1	336	1	0	0	0	0	1	0	0	0	11634	565	20	4	325	4	PCDHGB2	5	140740025	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	143986	140740025	40175235	225	62343											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751189	140751189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggtgacagatggagccCtggaccgggagcagatccca	9	6	16	10	1	0	3	0	1	0	2	1	6	1	6	3	5	2	2	3	5	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140751189C>T	ENST00000576222.1	+	1	1359	c.1228C>T	c.(1228-1230)Ctg>Ttg	p.L410L	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGGAGCCCTGGACCGGGA	0.468													15	54					0	0	0	0	T	140751189	C	T	140751189	2	4	336	1	0	0	0	0	0	0	0	1	11635	680	24	4		4	PCDHGB3	5	140751189	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	11164	140751189	40164071	226	62344											
PCDHGC5	56097	broad.mit.edu	37	chr5	140868991	140868991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgacagatctgttgagcCggcggctgcaattgggctct	8	10	14	9	2	2	4	0	2	2	2	2	4	2	4	1	3	2	4	1	3	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140868991C>T	ENST00000252087.1	+	1	184	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		62	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGTTGAGCCGGCGGCTGCA	0.547													5	55					0	0	0	0	T	140868991	C	T	140868991	3	4	336	1	0	0	0	0	1	0	0	0	11642	643	23	1	186	1	PCDHGC5	5	140868991	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	117802	140868991	40046269	227	62345											
KIF4B	285643	broad.mit.edu	37	chr5	154394892	154394892	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagccattgatactgcGgtagaagaagaagctcaagt	13	8	12	8	1	1	4	1	1	0	3	1	4	1	4	1	1	5	4	1	1	6	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:154394892G>A	ENST00000435029.4	+	1	1633	c.1473G>A	c.(1471-1473)gcG>gcA	p.A491A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	491					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGATACTGCGGTAGAAGAAG	0.443													12	91					0	0	0	0	A	154394892	G	A	154394892	2	1	336	1	0	0	0	0	0	0	0	1	8355	1103	39	1		1	KIF4B	5	154394892	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	13525901	154394892	26520368	228	62346											
SLIT3	6586	broad.mit.edu	37	chr5	168127602	168127602	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacctgaacccatccttgTggctgtcactcaggtggcag	7	11	11	12	0	2	1	2	1	0	0	3	1	3	1	3	3	2	3	3	3	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:168127602T>A	ENST00000519560.1	-	27	3346	c.2927A>T	c.(2926-2928)cAc>cTc	p.H976L	SLIT3_ENST00000332966.8_Missense_Mutation_p.H983L|SLIT3_ENST00000404867.3_Missense_Mutation_p.H976L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	976	EGF-like 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCATCCTTGTGGCTGTCACT	0.522													6	17					0	0	0	0	A	168127602	T	A	168127602	3	1	336	1	0	0	0	0	1	0	0	0	14829	1696	59	5	1684	5	SLIT3	5	168127602	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	13732710	168127602	12787658	229	62347											
CANX	821	broad.mit.edu	37	chr5	179143263	179143263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgggatgaaagaccaaaaatCccagatccagaagctgtcaa	17	6	9	9	0	1	4	1	1	0	3	3	5	3	5	3	1	1	1	3	1	5	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:179143263C>G	ENST00000247461.4	+	8	1079	c.879C>G	c.(877-879)atC>atG	p.I293M	CANX_ENST00000452673.2_Missense_Mutation_p.I293M|CANX_ENST00000504734.1_Missense_Mutation_p.I293M|CANX_ENST00000512607.2_Missense_Mutation_p.I185M|CANX_ENST00000415618.2_Missense_Mutation_p.I328M	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	293	4 X approximate repeats.|P domain (Extended arm) (By similarity).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACCAAAAATCCCAGATCCAG	0.468													12	36					0	0	0	0	G	179143263	C	G	179143263	3	3	336	1	0	0	0	0	1	0	0	0	2643	845	30	2	905	2	CANX	5	179143263	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	11015661	179143263	1771997	230	62348											
CAGE1	285782	broad.mit.edu	37	chr6	7365751	7365751	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacttatccagtttggctcCcagaagggtaggtacatctc	9	12	10	10	0	1	1	0	0	1	1	4	1	3	1	2	3	2	5	2	3	5	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:7365751C>A	ENST00000502583.1	-	9	2707	c.2143G>T	c.(2143-2145)Gga>Tga	p.G715*	CAGE1_ENST00000379918.4_Nonsense_Mutation_p.G693*|CAGE1_ENST00000512086.1_Nonsense_Mutation_p.G688*|CAGE1_ENST00000338150.4_Nonsense_Mutation_p.G715*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.G552*	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	688										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGTTTGGCTCCCAGAAGGGTA	0.348													3	23					0.115264	0.117444	1	0	A	7365751	C	A	7365751	4	1	336	1	0	0	0	0	0	1	0	0	2597	632	22	4	506	4	CAGE1	6	7365751	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08		7365751	163749316	231	62349											
MBOAT1	154141	broad.mit.edu	37	chr6	20109935	20109935	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcatcatacacagcctTgagagctcttgaagaaagga	13	8	10	10	0	2	3	1	2	1	2	2	5	2	4	2	1	4	2	2	1	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:20109935T>G	ENST00000541730.1	-	11	1403	c.808A>C	c.(808-810)Aag>Cag	p.K270Q	MBOAT1_ENST00000324607.7_Missense_Mutation_p.K419Q			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	419					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TACACAGCCTTGAGAGCTCTT	0.502													17	73					0	0	0	0	G	20109935	T	G	20109935	3	3	336	1	0	0	0	0	1	0	0	0	9425	1821	63	5	240	5	MBOAT1	6	20109935	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	12744184	20109935	151005132	232	62350											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027317	26027317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccttgagaacgccacgaGtctcctcataaatcaaaccg	14	7	6	14	3	3	1	2	1	1	1	4	3	3	1	4	0	2	0	4	0	4	2	rs149158970		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:26027317G>A	ENST00000377364.3	-	1	163	c.164C>T	c.(163-165)aCt>aTt	p.T55I		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	55					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						AACGCCACGAGTCTCCTCATA	0.562											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	62					0	0	0	0	A	26027317	G	A	26027317	3	1	336	1	0	0	0	0	1	0	0	0	7216	1029	36	4	151	4	HIST1H4B	6	26027317	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	5917382	26027317	145087750	233	62351											
HIST1H3B	8358	broad.mit.edu	37	chr6	26032207	26032207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggtagccggcgcgctctTgcgagcagccttggtagcca	5	7	15	14	5	1	0	0	0	1	0	1	1	1	0	4	3	5	4	4	3	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:26032207T>C	ENST00000244661.2	-	1	81	c.82A>G	c.(82-84)Aag>Gag	p.K28E		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	28					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GGCGCGCTCTTGCGAGCAGCC	0.612													30	172					0	0	0	0	C	26032207	T	C	26032207	3	2	336	1	0	0	0	0	1	0	0	0	7206	1821	63	5	332	5	HIST1H3B	6	26032207	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	4890	26032207	145082860	234	62352											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199862	26199862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaccaaggcgcagaagaagGatggtaagaagcgcaagcgt	15	4	15	7	3	0	4	0	1	0	3	0	5	0	5	1	3	2	3	1	3	6	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:26199862G>T	ENST00000359985.1	+	1	115	c.76G>T	c.(76-78)Gat>Tat	p.D26Y		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	26					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				GCAGAAGAAGGATGGTAAGAA	0.532													14	184					9.31168e-06	1.13653e-05	1	0	T	26199862	G	T	26199862	3	4	336	1	0	0	0	0	1	0	0	0	7195	1174	41	2	78	2	HIST1H2BF	6	26199862	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	167655	26199862	144915205	235	62353											
GPX6	257202	broad.mit.edu	37	chr6	28473480	28473480	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtttatactcatgcacCttcaggaaagtaaagacctt	13	11	7	10	0	2	1	2	0	0	1	2	2	2	2	3	2	2	3	3	2	5	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:28473480C>T	ENST00000361902.1	-	4	508	c.459_splice	c.e4+1	p.K153_splice	GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	153					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ACTCATGCACCTTCAGGAAAG	0.468													12	63					0	0	0	0	T	28473480	C	T	28473480	5	4	336	1	0	0	0	0	0	0	1	0	6794	695	24	4	214	4	GPX6	6	28473480	Splice_Site	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	2273618	28473480	142641587	236	62354											
GPX5	2880	broad.mit.edu	37	chr6	28497332	28497332	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagtatgtgggcaagcacatCctcttcgtcaacgtggccac	9	9	10	13	2	2	0	1	0	1	0	4	0	3	0	2	2	2	3	2	2	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:28497332C>G	ENST00000412168.2	+	2	281	c.192C>G	c.(190-192)atC>atG	p.I64M	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Missense_Mutation_p.I64M	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	64					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GCAAGCACATCCTCTTCGTCA	0.438													13	53					0	0	0	0	G	28497332	C	G	28497332	3	3	336	1	0	0	0	0	1	0	0	0	6793	845	30	2	198	2	GPX5	6	28497332	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	23852	28497332	142617735	237	62355											
ABCF1	23	broad.mit.edu	37	chr6	30545865	30545865	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcagcaaaaaaaaaagCgagatacccgaaaaggcagg	20	2	10	9	2	1	1	1	0	0	1	1	3	1	1	1	2	4	3	1	2	8	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:30545865C>T	ENST00000326195.8	+	4	341	c.229C>T	c.(229-231)Cga>Tga	p.R77*	ABCF1_ENST00000376545.3_Nonsense_Mutation_p.R77*|ABCF1_ENST00000396515.4_Nonsense_Mutation_p.R77*	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	77					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAAAAAAAAGCGAGATACCCG	0.493													16	77					0	0	0	0	T	30545865	C	T	30545865	4	4	336	1	0	0	0	0	0	1	0	0	65	760	27	1	243	1	ABCF1	6	30545865	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	2048533	30545865	140569202	238	62356											
KIFC1	3833	broad.mit.edu	37	chr6	33371793	33371793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acttgcgtgcttgtgtcctgGagctggaagagcggctgagc	6	10	16	9	2	0	2	0	1	0	1	1	4	1	4	1	3	5	3	1	3	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:33371793G>C	ENST00000428849.2	+	6	1093	c.643G>C	c.(643-645)Gag>Cag	p.E215Q		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	215					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TTGTGTCCTGGAGCTGGAAGA	0.577													9	115					0	0	0	0	C	33371793	G	C	33371793	3	2	336	1	0	0	0	0	1	0	0	0	8363	1175	41	2	665	2	KIFC1	6	33371793	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2825928	33371793	137743274	239	62357											
MAPK14	1432	broad.mit.edu	37	chr6	36020566	36020566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcatgcgaaaagaacctaCagagaactgcggttacttaa	16	9	8	8	2	1	2	1	0	0	2	1	4	1	2	1	1	6	1	1	1	7	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:36020566C>T	ENST00000229795.3	+	2	654	c.207C>T	c.(205-207)taC>taT	p.Y69Y	MAPK14_ENST00000310795.4_Silent_p.Y69Y|MAPK14_ENST00000229794.4_Silent_p.Y69Y|MAPK14_ENST00000468133.1_5'UTR	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	69	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						AAAGAACCTACAGAGAACTGC	0.378													10	69					0	0	0	0	T	36020566	C	T	36020566	2	4	336	1	0	0	0	0	0	0	0	1	9345	489	17	4		4	MAPK14	6	36020566	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	2648773	36020566	135094501	240	62358											
BRPF3	27154	broad.mit.edu	37	chr6	36168208	36168208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaccctgacatatgcccagGcccagcggattgtcgaggta	10	7	12	12	2	0	2	0	1	0	1	1	4	0	3	3	3	2	1	3	3	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:36168208G>A	ENST00000357641.6	+	2	362	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	BRPF3_ENST00000339717.7_Missense_Mutation_p.A37T|BRPF3_ENST00000534400.1_Missense_Mutation_p.A37T|BRPF3_ENST00000534694.1_Missense_Mutation_p.A37T|BRPF3_ENST00000443324.2_Missense_Mutation_p.A37T|BRPF3_ENST00000543502.1_Missense_Mutation_p.A37T	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	37					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ATATGCCCAGGCCCAGCGGAT	0.582													5	70					0	0	0	0	A	36168208	G	A	36168208	3	1	336	1	0	0	0	0	1	0	0	0	1529	1203	42	4	111	4	BRPF3	6	36168208	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	147642	36168208	134946859	241	62359											
TMEM217	221468	broad.mit.edu	37	chr6	37183008	37183008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtgtatctacaggtgctgGgggctgagcttggcactgga	6	12	16	7	0	1	1	0	1	1	0	1	2	1	2	0	5	3	5	0	5	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:37183008G>A	ENST00000336655.2	-	3	695	c.656C>T	c.(655-657)cCc>cTc	p.P219L	TMEM217_ENST00000356757.2_Intron|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	219						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						acaggtgctgggggctgagct	0.403													20	63					0	0	0	0	A	37183008	G	A	37183008	3	1	336	1	0	0	0	0	1	0	0	0	16234	1232	43	4	37	4	TMEM217	6	37183008	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1014800	37183008	133932059	242	62360											
PTK7	5754	broad.mit.edu	37	chr6	43100272	43100272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtgtggtgggagcacGcgggagtccggctgcccacc	5	5	17	14	4	0	0	0	0	0	0	1	2	1	2	4	4	3	2	4	4	0	0	rs148069775		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:43100272G>A	ENST00000230419.4	+	7	1296	c.1075G>A	c.(1075-1077)Gcg>Acg	p.A359T	PTK7_ENST00000471863.1_Missense_Mutation_p.A359T|PTK7_ENST00000345201.2_Missense_Mutation_p.A359T|PTK7_ENST00000352931.2_Missense_Mutation_p.A359T|PTK7_ENST00000349241.2_Missense_Mutation_p.A359T|PTK7_ENST00000481273.1_Missense_Mutation_p.A367T	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	359	Ig-like C2-type 4.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GTGGGAGCACGCGGGAGTCCG	0.627													17	30					0	0	0	0	A	43100272	G	A	43100272	3	1	336	1	0	0	0	0	1	0	0	0	12845	1087	38	1	1101	1	PTK7	6	43100272	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	5917264	43100272	128014795	243	62361											
SLC35B2	347734	broad.mit.edu	37	chr6	44222784	44222784	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccagtagggccccctgttCtagcagtgagcccactgtga	7	9	11	14	0	1	2	0	2	1	0	2	2	2	2	4	1	2	3	4	1	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:44222784C>G	ENST00000393812.3	-	4	1101	c.958G>C	c.(958-960)Gaa>Caa	p.E320Q	SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000538577.1_Missense_Mutation_p.E227Q|SLC35B2_ENST00000537814.1_Missense_Mutation_p.E187Q	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	320					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCCCCCTGTTCTAGCAGTGAG	0.557													5	32					0	0	0	0	G	44222784	C	G	44222784	3	3	336	1	0	0	0	0	1	0	0	0	14664	922	32	2	344	2	SLC35B2	6	44222784	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1122512	44222784	126892283	244	62362											
NFKBIE	4794	broad.mit.edu	37	chr6	44229546	44229546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccagtgcccgaactgCgcccggttggtccagatgta	8	7	12	14	3	0	1	0	0	0	1	1	2	1	1	4	2	4	3	4	2	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:44229546C>T	ENST00000275015.5	-	3	924	c.925G>A	c.(925-927)Gca>Aca	p.A309T		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	309					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCCCGAACTGCGCCCGGTTGG	0.632													3	21					0	0	0	0	T	44229546	C	T	44229546	3	4	336	1	0	0	0	0	1	0	0	0	10450	768	27	1	593	1	NFKBIE	6	44229546	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	6762	44229546	126885521	245	62363											
TDRD6	221400	broad.mit.edu	37	chr6	46660576	46660576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatcccatgtccttatattGgagatccttgtatagtaaga	11	15	8	7	0	0	2	0	0	0	2	3	3	3	2	3	1	0	3	3	1	6	8			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:46660576G>A	ENST00000544460.1	+	1	4965	c.4711G>A	c.(4711-4713)Gga>Aga	p.G1571R	TDRD6_ENST00000316081.6_Missense_Mutation_p.G1571R	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1571	Tudor 7.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCCTTATATTGGAGATCCTTG	0.383													17	123					0	0	0	0	A	46660576	G	A	46660576	3	1	336	1	0	0	0	0	1	0	0	0	15828	1349	47	4	4713	4	TDRD6	6	46660576	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2431030	46660576	124454491	246	62364											
TDRD6	221400	broad.mit.edu	37	chr6	46661594	46661594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccagaactagaactacCtacagcccagctgcctttag	13	7	7	14	0	0	2	0	0	0	2	0	2	0	2	4	0	8	1	4	0	6	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:46661594C>A	ENST00000544460.1	+	1	5983	c.5729C>A	c.(5728-5730)cCt>cAt	p.P1910H	TDRD6_ENST00000316081.6_Missense_Mutation_p.P1910H	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1910					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTAGAACTACCTACAGCCCAG	0.473													10	79					1	1	1	0	A	46661594	C	A	46661594	3	1	336	1	0	0	0	0	1	0	0	0	15828	681	24	4	5731	4	TDRD6	6	46661594	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1018	46661594	124453473	247	62365											
TDRD6	221400	broad.mit.edu	37	chr6	46661854	46661854	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgatgcctttgttctctGaggaagaaagcagtgatgga	11	12	12	6	0	1	4	0	3	1	1	2	6	1	6	1	2	2	2	1	2	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:46661854G>T	ENST00000544460.1	+	1	6243	c.5989G>T	c.(5989-5991)Gag>Tag	p.E1997*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1997*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1997					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTTGTTCTCTGAGGAAGAAAG	0.318													11	76					2.80697e-09	3.89028e-09	1	0	T	46661854	G	T	46661854	4	4	336	1	0	0	0	0	0	1	0	0	15828	1291	45	2	5991	2	TDRD6	6	46661854	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	260	46661854	124453213	248	62366											
PKHD1	5314	broad.mit.edu	37	chr6	51944776	51944776	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtatgcttccaggaagtaCagaccctcatgtgcttcaga	12	10	9	10	0	2	2	2	0	0	2	3	3	3	3	2	1	3	4	2	1	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:51944776C>A	ENST00000371117.3	-	5	587	c.312G>T	c.(310-312)ctG>ctT	p.L104L	PKHD1_ENST00000340994.4_Silent_p.L104L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	104	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCAGGAAGTACAGACCCTCAT	0.488													27	121					4.22769e-11	6.12182e-11	1	0	A	51944776	C	A	51944776	2	1	336	1	0	0	0	0	0	0	0	1	12043	465	17	4		4	PKHD1	6	51944776	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	5282922	51944776	119170291	249	62367											
BAI3	577	broad.mit.edu	37	chr6	69703759	69703759	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taactcagagaaaaaatttcTatgcaggcgatcttctgatg	14	12	8	7	1	4	2	1	1	3	1	4	4	4	2	0	1	2	1	0	1	5	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:69703759T>C	ENST00000370598.1	+	11	2655	c.1834T>C	c.(1834-1836)Tat>Cat	p.Y612H		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	612					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAAAAATTTCTATGCAGGCGA	0.458													28	148					0	0	0	0	C	69703759	T	C	69703759	3	2	336	1	0	0	0	0	1	0	0	0	1304	1522	53	5	1868	5	BAI3	6	69703759	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	17758983	69703759	101411308	250	62368											
BAI3	577	broad.mit.edu	37	chr6	69949024	69949024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctctggctaggtacatacGctctgagagatccataatac	11	11	8	11	1	2	2	0	1	2	1	4	3	3	2	1	2	3	3	1	2	5	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:69949024G>C	ENST00000370598.1	+	20	3541	c.2720G>C	c.(2719-2721)cGc>cCc	p.R907P	BAI3_ENST00000238918.8_Missense_Mutation_p.R113P	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	907					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R907P(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGGTACATACGCTCTGAGAGA	0.368													13	103					0	0	0	0	C	69949024	G	C	69949024	3	2	336	1	0	0	0	0	1	0	0	0	1304	1087	38	3	2790	3	BAI3	6	69949024	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	245265	69949024	101166043	251	62369											
COQ3	51805	broad.mit.edu	37	chr6	99819333	99819333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgctctctagtgtttcaGgtgaaacaaacttctcccat	11	13	7	10	0	3	1	1	1	2	0	5	2	3	1	1	1	3	2	1	1	4	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:99819333G>A	ENST00000254759.3	-	6	884	c.860C>T	c.(859-861)cCt>cTt	p.P287L	COQ3_ENST00000369242.1_Missense_Mutation_p.P59L|COQ3_ENST00000369240.1_Missense_Mutation_p.P59L	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	287				PET -> LEP (in Ref. 1; AAN76515).	glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TAGTGTTTCAGGTGAAACAAA	0.348													6	32					0	0	0	0	A	99819333	G	A	99819333	3	1	336	1	0	0	0	0	1	0	0	0	3776	1000	35	4	257	4	COQ3	6	99819333	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	29870309	99819333	71295734	252	62370											
BVES	11149	broad.mit.edu	37	chr6	105577301	105577301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagatgcaaaatgttgacacCcaagaacacagagttccaga	17	6	8	10	0	0	5	0	1	0	4	1	5	1	5	2	0	2	3	2	0	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:105577301C>A	ENST00000314641.5	-	3	520	c.304G>T	c.(304-306)Ggt>Tgt	p.G102C	BVES_ENST00000446408.2_Missense_Mutation_p.G102C|BVES_ENST00000336775.5_Missense_Mutation_p.G102C	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	102					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATGTTGACACCCAAGAACACA	0.358													7	49					8.12818e-05	9.40913e-05	1	0	A	105577301	C	A	105577301	3	1	336	1	0	0	0	0	1	0	0	0	1584	623	22	4	802	4	BVES	6	105577301	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	5757968	105577301	65537766	253	62371											
SCML4	256380	broad.mit.edu	37	chr6	108067951	108067951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaagaccagcttctgctgGtgggcgcagtcgatgcaggc	8	7	16	10	2	1	2	0	0	1	2	2	4	1	2	1	3	3	4	1	3	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:108067951G>C	ENST00000369022.2	-	3	464	c.255C>G	c.(253-255)caC>caG	p.H85Q	SCML4_ENST00000369021.3_Missense_Mutation_p.H114Q|SCML4_ENST00000369020.3_Missense_Mutation_p.H143Q			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GCTTCTGCTGGTGGGCGCAGT	0.627													10	85					0	0	0	0	C	108067951	G	C	108067951	3	2	336	1	0	0	0	0	1	0	0	0	13998	1252	44	4	835	4	SCML4	6	108067951	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2490650	108067951	63047116	254	62372											
FAM184A	79632	broad.mit.edu	37	chr6	119344239	119344239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcatcaagctgtttttGaagaacctaagaaagattaa	16	11	8	6	0	2	4	2	1	0	3	2	4	2	4	1	1	2	3	1	1	6	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:119344239G>T	ENST00000338891.7	-	3	1464	c.1021C>A	c.(1021-1023)Caa>Aaa	p.Q341K	FAM184A_ENST00000368475.4_Missense_Mutation_p.Q221K|FAM184A_ENST00000522284.1_Missense_Mutation_p.Q221K|FAM184A_ENST00000352896.5_Missense_Mutation_p.Q221K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.Q341K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	341										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AGCTGTTTTTGAAGAACCTAA	0.363													12	46					3.03607e-14	4.60253e-14	1	0	T	119344239	G	T	119344239	3	4	336	1	0	0	0	0	1	0	0	0	5553	1299	45	2	2465	2	FAM184A	6	119344239	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	11276288	119344239	51770828	255	62373											
GJA1	2697	broad.mit.edu	37	chr6	121768579	121768579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagatccctgcccacatcagGtggactgtttcctctctcgc	6	11	9	15	1	2	1	1	0	1	1	6	3	4	2	3	2	1	1	3	2	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:121768579G>T	ENST00000282561.3	+	2	743	c.586G>T	c.(586-588)Gtg>Ttg	p.V196L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	196					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CCCACATCAGGTGGACTGTTT	0.483													14	109					3.35478e-16	5.16316e-16	1	0	T	121768579	G	T	121768579	3	4	336	1	0	0	0	0	1	0	0	0	6451	1261	44	4	588	4	GJA1	6	121768579	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2424340	121768579	49346488	256	62374											
LAMA2	3908	broad.mit.edu	37	chr6	129588365	129588365	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgtcactggagaatgcctgGtaagtgctctcttctttggg	7	13	12	9	1	3	1	1	0	2	1	4	2	3	1	1	3	2	2	1	3	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:129588365G>A	ENST00000421865.2	+	16	2371		c.e16+1			NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGAATGCCTGGTAAGTGCTCT	0.498													11	96					0	0	0	0	A	129588365	G	A	129588365	5	1	336	1	0	0	0	0	0	0	1	0	8659	1275	44	4	2385	4	LAMA2	6	129588365	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	7819786	129588365	41526702	257	62375											
ENPP1	5167	broad.mit.edu	37	chr6	132203611	132203611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttacgggttcctctccccaCcacgtaagttttttcctctc	5	15	6	15	2	2	0	0	0	2	0	6	0	4	0	5	1	1	4	5	1	2	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:132203611C>A	ENST00000360971.2	+	21	2247	c.2227C>A	c.(2227-2229)Cca>Aca	p.P743T		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	743	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CCTCTCCCCACCACGTAAGTT	0.353													13	87					7.93312e-07	1.00312e-06	1	0	A	132203611	C	A	132203611	3	1	336	1	0	0	0	0	1	0	0	0	5167	507	18	4	2309	4	ENPP1	6	132203611	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	2615246	132203611	38911456	258	62376											
TAAR8	83551	broad.mit.edu	37	chr6	132874321	132874321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcctctcacgtacagcGgtgctgtgttctacacaggt	6	13	10	12	2	3	0	1	0	3	0	4	0	3	0	1	2	5	3	1	2	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:132874321G>A	ENST00000275200.1	+	1	490	c.490G>A	c.(490-492)Ggt>Agt	p.G164S		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	164						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CACGTACAGCGGTGCTGTGTT	0.493													32	227					0	0	0	0	A	132874321	G	A	132874321	3	1	336	1	0	0	0	0	1	0	0	0	15584	1116	39	1	492	1	TAAR8	6	132874321	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	670710	132874321	38240746	259	62377											
ECT2L	345930	broad.mit.edu	37	chr6	139164331	139164331	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacaaagagaaaagtgcctGaggaaaagaatttgggagaa	20	5	13	3	0	0	5	0	1	0	4	0	8	0	6	1	2	1	0	1	2	7	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:139164331G>C	ENST00000423192.1	+	5	719	c.558G>C	c.(556-558)ctG>ctC	p.L186L	ECT2L_ENST00000367682.2_Silent_p.L186L|ECT2L_ENST00000541398.1_Silent_p.L117L			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	186					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AAAAGTGCCTGAGGAAAAGAA	0.398			"N, Splice, Mis"		ETP ALL								11	75					0	0	0	0	C	139164331	G	C	139164331	2	2	336	1	0	0	0	0	0	0	0	1	4938	1277	45	2		2	ECT2L	6	139164331	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	6290010	139164331	31950736	260	62378											
UTRN	7402	broad.mit.edu	37	chr6	144757140	144757140	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgtcactgaggttgacAtggatctggacagctatcag	10	10	12	9	0	3	2	2	2	1	0	3	4	3	4	0	3	1	3	0	3	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:144757140A>G	ENST00000367545.3	+	9	925	c.925A>G	c.(925-927)Atg>Gtg	p.M309V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	309	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGAGGTTGACATGGATCTGGA	0.498													14	60					0	0	0	0	G	144757140	A	G	144757140	3	3	336	1	0	0	0	0	1	0	0	0	17199	217	8	5	959	5	UTRN	6	144757140	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	5592809	144757140	26357927	261	62379											
GRM1	2911	broad.mit.edu	37	chr6	146480533	146480533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagagctggctgcccaGgaaggcctctgtatcgccca	9	8	11	13	1	2	1	1	0	1	1	3	2	2	2	3	3	2	3	3	3	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:146480533G>A	ENST00000392299.2	+	3	1220	c.750G>A	c.(748-750)caG>caA	p.Q250Q	GRM1_ENST00000361719.2_Silent_p.Q250Q|GRM1_ENST00000492807.2_Silent_p.Q250Q|GRM1_ENST00000507907.1_Silent_p.Q250Q|GRM1_ENST00000282753.1_Silent_p.Q250Q|GRM1_ENST00000355289.4_Silent_p.Q250Q			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	250					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGGCTGCCCAGGAAGGCCTCT	0.512													18	93					0	0	0	0	A	146480533	G	A	146480533	2	1	336	1	0	0	0	0	0	0	0	1	6846	991	35	4		4	GRM1	6	146480533	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1723393	146480533	24634534	262	62380											
SYNE1	23345	broad.mit.edu	37	chr6	152542132	152542132	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgccaaagctgaagtagggCcttgctggactgtagctgct	8	11	13	9	0	0	1	0	1	0	0	0	2	0	2	2	2	5	6	2	2	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:152542132C>G	ENST00000367255.5	-	119	22307	c.21706G>C	c.(21706-21708)Gcc>Ccc	p.A7236P	SYNE1_ENST00000423061.1_Missense_Mutation_p.A7165P|SYNE1_ENST00000341594.5_Missense_Mutation_p.A6848P|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7236P|SYNE1_ENST00000356820.4_Missense_Mutation_p.A1760P|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7165P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7236					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGTAGGGCCTTGCTGGAC	0.473										HNSCC(10;0.0054)			9	89					0	0	0	0	G	152542132	C	G	152542132	3	3	336	1	0	0	0	0	1	0	0	0	15536	739	26	4	4872	4	SYNE1	6	152542132	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	6061599	152542132	18572935	263	62381											
SYNE1	23345	broad.mit.edu	37	chr6	152826383	152826383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttctgtttcggcgataGtgaaagcatcctccaaattt	10	13	8	10	2	1	1	0	1	1	0	4	2	3	1	3	1	1	3	3	1	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:152826383G>T	ENST00000367255.5	-	9	1332	c.731C>A	c.(730-732)aCt>aAt	p.T244N	SYNE1_ENST00000423061.1_Missense_Mutation_p.T251N|SYNE1_ENST00000341594.5_Missense_Mutation_p.T244N|SYNE1_ENST00000265368.4_Missense_Mutation_p.T244N|SYNE1_ENST00000413186.2_Missense_Mutation_p.T244N|SYNE1_ENST00000448038.1_Missense_Mutation_p.T251N|SYNE1_ENST00000367248.3_Missense_Mutation_p.T251N|SYNE1_ENST00000466159.2_Missense_Mutation_p.T244N|SYNE1_ENST00000367253.4_Missense_Mutation_p.T244N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	244	Actin-binding.|CH 2.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCGGCGATAGTGAAAGCATC	0.443										HNSCC(10;0.0054)			12	37					2.27111e-07	2.94552e-07	1	0	T	152826383	G	T	152826383	3	4	336	1	0	0	0	0	1	0	0	0	15536	1029	36	4	26287	4	SYNE1	6	152826383	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	284251	152826383	18288684	264	62382											
NOX3	50508	broad.mit.edu	37	chr6	155743916	155743916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagtgactccgatccccGcggcaacgcacacacacact	11	4	10	16	4	0	1	0	1	0	0	2	3	2	2	3	2	1	2	3	2	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:155743916G>T	ENST00000159060.2	-	10	1322	c.1220C>A	c.(1219-1221)gCg>gAg	p.A407E		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	407							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TCCGATCCCCGCGGCAACGCA	0.527													14	119					3.27435e-08	4.37302e-08	1	0	T	155743916	G	T	155743916	3	4	336	1	0	0	0	0	1	0	0	0	10627	1087	38	3	502	3	NOX3	6	155743916	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2917533	155743916	15371151	265	62383											
T	6862	broad.mit.edu	37	chr6	166571936	166571936	+	Frame_Shift_Del	DEL	G	G	-																															gggatcccgaggaagagggcGccgagaccggatgggtgagg																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:166571936delG	ENST00000296946.2	-	9	1643	c.1175delC	c.(1174-1176)ggfs	p.A392fs	T_ENST00000366871.3_Frame_Shift_Del_p.A334fs	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	392					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGAAGAGGGCGCCGAGACCGG	0.711									Chordoma, Familial Clustering of				9	70	---	---	---	---					-	166571936	G	-	166571936	7	5	336	1	0	1	0	1	0	0	0	0	15579	1087	38	0	136	0	T	6	166571936	Frame_Shift_Del	DEL	G	TCGA-CV-A45W-01A-11D-A25D-08	10828020	166571936	4543131	266	62384											
T	6862	broad.mit.edu	37	chr6	166579304	166579304	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgtggattcgaggctcatActtatgcaaggagttcagca	11	12	11	7	1	2	0	2	0	0	0	3	3	2	2	0	3	3	4	0	3	4	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:166579304A>C	ENST00000296946.2	-	4	964	c.496T>G	c.(496-498)Tat>Gat	p.Y166D	T_ENST00000366871.3_Missense_Mutation_p.Y166D	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	166					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CGAGGCTCATACTTATGCAAG	0.498									Chordoma, Familial Clustering of				42	250					0	0	0	0	C	166579304	A	C	166579304	3	2	336	1	0	0	0	0	1	0	0	0	15579	391	14	5	835	5	T	6	166579304	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	7368	166579304	4535763	267	62385											
TCP10L2	401285	broad.mit.edu	37	chr6	167585672	167585672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggccagggagcccaaggagGgcacccacccagaggacccg	11	0	15	15	1	0	1	0	0	0	1	0	4	0	4	5	5	1	1	5	5	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:167585672G>T	ENST00000366832.2	+	2	171	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	14										endometrium(1)|kidney(2)|lung(3)	6						GCCCAAGGAGGGCACCCACCC	0.657													4	16					1	1	1	0	T	167585672	G	T	167585672	3	4	336	1	0	0	0	0	1	0	0	0	15806	1232	43	4	42	4	TCP10L2	6	167585672	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1006368	167585672	3529395	268	62386											
MLLT4	4301	broad.mit.edu	37	chr6	168351917	168351917	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagataaagcttaccaacttGagcggcatcgaatagaggca	16	7	10	8	2	0	3	0	1	0	2	1	4	0	3	1	2	4	3	1	2	7	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:168351917G>T	ENST00000366806.2	+	30	4004	c.3862G>T	c.(3862-3864)Gag>Tag	p.E1288*	MLLT4_ENST00000400822.3_Nonsense_Mutation_p.E1287*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.E1288*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.E1271*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.E1295*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.E1288*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.E1288*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1288					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTACCAACTTGAGCGGCATCG	0.413			T	MLL	AL								7	68					1.26484e-09	1.77122e-09	1	0	T	168351917	G	T	168351917	4	4	336	1	0	0	0	0	0	1	0	0	9698	1291	45	2	3976	2	MLLT4	6	168351917	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	766245	168351917	2763150	269	62387											
KIF25	3834	broad.mit.edu	37	chr6	168431458	168431458	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactttgtctctcagggtttAtggtccagcagagtctcaga	8	13	10	10	0	3	2	2	0	2	2	6	2	4	2	1	2	1	2	1	2	1	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:168431458A>C	ENST00000443060.2	+	4	489	c.98A>C	c.(97-99)tAt>tCt	p.Y33S	KIF25_ENST00000354419.2_Missense_Mutation_p.Y33S|KIF25_ENST00000351261.3_Missense_Mutation_p.Y33S			Q9UIL4	KIF25_HUMAN	kinesin family member 25	33	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTCAGGGTTTATGGTCCAGCA	0.478													6	70					0	0	0	0	C	168431458	A	C	168431458	3	2	336	1	0	0	0	0	1	0	0	0	8344	449	16	5	104	5	KIF25	6	168431458	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	79541	168431458	2683609	270	62388											
C7orf50	84310	broad.mit.edu	37	chr7	1049731	1049731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggaccctctgctcctctgGggacagctctggctctgcgt	4	10	12	15	1	4	0	0	0	4	0	5	2	5	2	2	4	3	3	2	4	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:1049731G>T	ENST00000397098.3	-	3	1104	c.178C>A	c.(178-180)Cca>Aca	p.P60T	C7orf50_ENST00000357429.6_Missense_Mutation_p.P60T|C7orf50_ENST00000397100.2_Missense_Mutation_p.P60T|C7orf50_ENST00000488073.1_5'UTR			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	60							protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		TGCTCCTCTGGGGACAGCTCT	0.617													4	40					0.00909568	0.00960694	1	0	T	1049731	G	T	1049731	3	4	336	1	0	0	0	0	1	0	0	0	2422	1232	43	4	418	4	C7orf50	7	1049731	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08		1049731	158088932	271	62389											
SDK1	221935	broad.mit.edu	37	chr7	3991379	3991379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctgtggaggacctgaGtgtgacctggaagaggaatg	10	7	17	7	0	0	3	0	2	0	1	0	7	0	7	3	5	0	0	3	5	2	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:3991379G>T	ENST00000404826.2	+	7	1116	c.977G>T	c.(976-978)aGt>aTt	p.S326I	SDK1_ENST00000389531.3_Missense_Mutation_p.S326I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	326	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAGGACCTGAGTGTGACCTGG	0.587													10	48					7.48243e-07	9.52095e-07	1	0	T	3991379	G	T	3991379	3	4	336	1	0	0	0	0	1	0	0	0	14055	1029	36	4	1003	4	SDK1	7	3991379	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2941648	3991379	155147284	272	62390											
GHRHR	2692	broad.mit.edu	37	chr7	31013752	31013752	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctggttctcgctggctgGggtgagcactgagggcgggt	3	10	20	8	2	1	2	0	2	1	0	2	2	1	2	0	7	1	5	0	7	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:31013752G>T	ENST00000409904.3	+	4	816	c.559_splice	c.e4+1	p.W186_splice	GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Splice_Site_p.W250_splice|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	250					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	TCGCTGGCTGGGGTGAGCACT	0.627													15	71					7.93312e-07	1.00312e-06	1	0	T	31013752	G	T	31013752	5	4	336	1	0	0	0	0	0	0	1	0	6424	1246	43	4	776	4	GHRHR	7	31013752	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	27022373	31013752	128124911	273	62391											
PDE1C	5137	broad.mit.edu	37	chr7	31855669	31855669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttttctcagctttgccaGatgcgccttcttcagcctgg	4	16	8	13	1	4	1	2	0	3	1	5	1	4	1	3	1	4	1	3	1	0	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:31855669G>C	ENST00000396184.3	-	16	1886	c.1682C>G	c.(1681-1683)tCt>tGt	p.S561C	PDE1C_ENST00000321453.7_Missense_Mutation_p.S561C|PDE1C_ENST00000396182.2_Missense_Mutation_p.S561C|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396193.1_Missense_Mutation_p.S621C|PDE1C_ENST00000396191.1_Missense_Mutation_p.S561C	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	561					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCTTTGCCAGATGCGCCTTC	0.507													9	151					0	0	0	0	C	31855669	G	C	31855669	3	2	336	1	0	0	0	0	1	0	0	0	11706	942	33	2	234	2	PDE1C	7	31855669	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	841917	31855669	127282994	274	62392											
STARD3NL	83930	broad.mit.edu	37	chr7	38253990	38253990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgagaacacattagagaaGgaggtgatgcagtatgacta	16	9	12	4	0	0	4	0	3	0	2	0	7	0	5	0	2	2	2	0	2	5	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:38253990G>C	ENST00000009041.7	+	3	515	c.258G>C	c.(256-258)aaG>aaC	p.K86N	STARD3NL_ENST00000396013.1_Missense_Mutation_p.K86N|STARD3NL_ENST00000544203.1_Missense_Mutation_p.K79N|STARD3NL_ENST00000434197.1_Missense_Mutation_p.K86N	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	86	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						CATTAGAGAAGGAGGTGATGC	0.333													6	53					0	0	0	0	C	38253990	G	C	38253990	3	2	336	1	0	0	0	0	1	0	0	0	15348	991	35	4	264	4	STARD3NL	7	38253990	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	6398321	38253990	120884673	275	62393											
VPS41	27072	broad.mit.edu	37	chr7	38805245	38805245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgctgcatttttcccaaGaattttctggcatttgctgg	7	16	10	8	0	1	1	0	0	1	1	2	2	2	1	1	2	3	4	1	2	2	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:38805245G>T	ENST00000310301.4	-	16	1318	c.1264C>A	c.(1264-1266)Ctt>Att	p.L422I	VPS41_ENST00000395969.2_Missense_Mutation_p.L397I	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	422					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	p.L422I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TTTTTCCCAAGAATTTTCTGG	0.318													4	39					0.014758	0.0154462	1	0	T	38805245	G	T	38805245	3	4	336	1	0	0	0	0	1	0	0	0	17306	942	33	2	1356	2	VPS41	7	38805245	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	551255	38805245	120333418	276	62394											
GLI3	2737	broad.mit.edu	37	chr7	42004735	42004735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccactgggtcctggttctgCatgccattcaccatgctgcc	5	11	9	16	0	2	0	1	0	1	0	3	0	3	0	5	2	4	3	5	2	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:42004735C>A	ENST00000395925.3	-	15	4020	c.3936G>T	c.(3934-3936)atG>atT	p.M1312I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1312					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCTGGTTCTGCATGCCATTCA	0.647									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				9	54					0.00448238	0.00481618	1	0	A	42004735	C	A	42004735	3	1	336	1	0	0	0	0	1	0	0	0	6490	710	25	4	810	4	GLI3	7	42004735	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	3199490	42004735	117133928	277	62395											
PSMA2	5683	broad.mit.edu	37	chr7	42957398	42957398	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttagggttaagatggctgtAtgaatggcatcttcaagttc	10	15	11	5	0	2	2	1	1	1	1	3	2	2	2	0	3	0	5	0	3	5	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:42957398A>G	ENST00000442788.1	-	7	582	c.567T>C	c.(565-567)caT>caC	p.H189H	PSMA2_ENST00000223321.4_Silent_p.H189H|PSMA2_ENST00000445517.1_Silent_p.H119H			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	189					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						AGATGGCTGTATGAATGGCAT	0.279													12	64					0	0	0	0	G	42957398	A	G	42957398	2	3	336	1	0	0	0	0	0	0	0	1	12746	446	16	5		5	PSMA2	7	42957398	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	952663	42957398	116181265	278	62396											
GUSB	2990	broad.mit.edu	37	chr7	65445375	65445375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attgaagctggagggaactgGcatgtccacggtggggcctg	8	8	17	8	1	0	1	0	1	0	0	1	3	1	3	2	6	2	2	2	6	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:65445375G>T	ENST00000304895.4	-	2	362	c.232C>A	c.(232-234)Cca>Aca	p.P78T	GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Missense_Mutation_p.P78T|GUSB_ENST00000421103.1_Missense_Mutation_p.P78T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	78					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GAGGGAACTGGCATGTCCACG	0.632													3	21					6.4e-05	7.46369e-05	1	0	T	65445375	G	T	65445375	3	4	336	1	0	0	0	0	1	0	0	0	6952	1203	42	4	1767	4	GUSB	7	65445375	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	22487977	65445375	93693288	279	62397											
HIP1	3092	broad.mit.edu	37	chr7	75178230	75178230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaatagcagctgaagtggCcgccatctccttgtccacca	9	10	8	14	1	2	1	1	1	1	0	4	1	3	1	5	1	2	2	5	1	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:75178230C>G	ENST00000336926.6	-	23	2391	c.2365G>C	c.(2365-2367)Gcc>Ccc	p.A789P	HIP1_ENST00000434438.2_Missense_Mutation_p.A789P	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	789	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTGAAGTGGCCGCCATCTCC	0.567			T	PDGFRB	CMML								39	192					0	0	0	0	G	75178230	C	G	75178230	3	3	336	1	0	0	0	0	1	0	0	0	7164	739	26	4	784	4	HIP1	7	75178230	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	9732855	75178230	83960433	280	62398											
SEMA3D	223117	broad.mit.edu	37	chr7	84642107	84642107	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtacttactgtcttcgaTgtcccagcactgggtgattg	6	14	11	10	1	1	1	0	1	1	0	3	2	2	1	1	1	3	3	1	1	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:84642107T>A	ENST00000284136.6	-	15	1802	c.1759A>T	c.(1759-1761)Atc>Ttc	p.I587F	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	587					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTGTCTTCGATGTCCCAGCAC	0.388													11	55					0	0	0	0	A	84642107	T	A	84642107	3	1	336	1	0	0	0	0	1	0	0	0	14114	1464	51	5	586	5	SEMA3D	7	84642107	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	9463877	84642107	74496556	281	62399											
KIAA1324L	222223	broad.mit.edu	37	chr7	86541495	86541495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgctgaggttgctaaagtCatagtgcaaactctgatttt	11	14	9	7	0	2	2	1	2	1	0	2	2	2	2	0	1	4	4	0	1	4	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:86541495C>T	ENST00000450689.2	-	15	2247	c.2062G>A	c.(2062-2064)Gac>Aac	p.D688N	KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.D448N|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.D521N	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	688						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TTGCTAAAGTCATAGTGCAAA	0.378													19	101					0	0	0	0	T	86541495	C	T	86541495	3	4	336	1	0	0	0	0	1	0	0	0	8275	826	29	2	1059	2	KIAA1324L	7	86541495	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1899388	86541495	72597168	282	62400											
ZNF804B	219578	broad.mit.edu	37	chr7	88963800	88963800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggacttaaaaacagaattgGgtaagaagcccttggaattg	16	9	11	5	0	0	2	0	0	0	2	0	4	0	4	1	3	2	1	1	3	7	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:88963800G>T	ENST00000333190.4	+	4	2113	c.1504G>T	c.(1504-1506)Ggt>Tgt	p.G502C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	502						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AACAGAATTGGGTAAGAAGCC	0.383										HNSCC(36;0.09)			8	57					1.26484e-09	1.77122e-09	1	0	T	88963800	G	T	88963800	3	4	336	1	0	0	0	0	1	0	0	0	18264	1232	43	4	1518	4	ZNF804B	7	88963800	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2422305	88963800	70174863	283	62401											
ZNF804B	219578	broad.mit.edu	37	chr7	88965939	88965939	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatccaccacacgttcctgCagcattttgctgtttctgct	6	14	6	15	1	1	0	0	0	1	0	3	0	3	0	4	0	4	6	4	0	0	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:88965939C>A	ENST00000333190.4	+	4	4252	c.3643C>A	c.(3643-3645)Cag>Aag	p.Q1215K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1215						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CACGTTCCTGCAGCATTTTGC	0.498										HNSCC(36;0.09)			10	128					1.58986e-06	1.99164e-06	1	0	A	88965939	C	A	88965939	3	1	336	1	0	0	0	0	1	0	0	0	18264	711	25	4	3657	4	ZNF804B	7	88965939	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	2139	88965939	70172724	284	62402											
STEAP2	261729	broad.mit.edu	37	chr7	89859300	89859300	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctcctggcagtcacttctAtcccttcagtgagcaatgct	7	12	7	15	0	3	1	2	1	1	0	5	1	5	1	3	1	2	3	3	1	2	3	rs140360438		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:89859300A>G	ENST00000287908.3	+	4	1528	c.1135A>G	c.(1135-1137)Atc>Gtc	p.I379V	STEAP2_ENST00000402625.2_Missense_Mutation_p.I379V|STEAP2_ENST00000394629.2_Missense_Mutation_p.I379V|STEAP2_ENST00000394621.2_Missense_Mutation_p.I379V|STEAP2_ENST00000394622.2_Missense_Mutation_p.I379V|STEAP2_ENST00000394626.1_Missense_Mutation_p.I379V|STEAP2_ENST00000394632.1_Missense_Mutation_p.I379V	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	379	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AGTCACTTCTATCCCTTCAGT	0.408													42	182					0	0	0	0	G	89859300	A	G	89859300	3	3	336	1	0	0	0	0	1	0	0	0	15368	449	16	5	1145	5	STEAP2	7	89859300	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	893361	89859300	69279363	285	62403											
C7orf63	79846	broad.mit.edu	37	chr7	89917652	89917652	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtacttctttttagtacAttggacagcatttggtgagt	10	17	9	5	0	1	1	0	1	1	0	1	2	1	2	0	2	3	3	0	2	4	8			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:89917652A>G	ENST00000389297.4	+	15	2012	c.1761A>G	c.(1759-1761)acA>acG	p.T587T	C7orf63_ENST00000316089.8_Silent_p.T587T|C7orf63_ENST00000497910.1_Silent_p.T569T	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	587							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTTTTAGTACATTGGACAGCA	0.378													22	77					0	0	0	0	G	89917652	A	G	89917652	2	3	336	1	0	0	0	0	0	0	0	1	2432	204	8	5		5	C7orf63	7	89917652	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	58352	89917652	69221011	286	62404											
CCDC132	55610	broad.mit.edu	37	chr7	92935314	92935314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatgtcttagcttctaatGgggtatgtggtgtatgtgaa	10	15	13	3	0	2	2	0	1	2	1	2	2	2	2	0	3	1	3	0	3	6	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:92935314G>T	ENST00000544910.1	+	19	1757	c.1537G>T	c.(1537-1539)Ggg>Tgg	p.G513W	CCDC132_ENST00000305866.5_Missense_Mutation_p.G543W|CCDC132_ENST00000535481.1_Missense_Mutation_p.G263W|CCDC132_ENST00000541136.1_Missense_Mutation_p.G354W|CCDC132_ENST00000317751.6_Missense_Mutation_p.G274W	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	543										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCTTCTAATGGGGTATGTGG	0.358													21	87					1.2644e-06	1.59631e-06	1	0	T	92935314	G	T	92935314	3	4	336	1	0	0	0	0	1	0	0	0	2792	1348	47	4	1739	4	CCDC132	7	92935314	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3017662	92935314	66203349	287	62405											
PPP1R9A	55607	broad.mit.edu	37	chr7	94540395	94540395	+	Frame_Shift_Del	DEL	C	C	-																															acaaagatggtcctgaagaaCcttgtgctgaaagtaaggca																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:94540395delC	ENST00000289495.5	+	1	1186	c.970delC	c.(970-972)ctfs	p.P324fs	PPP1R9A_ENST00000456331.2_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000340694.4_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000433360.1_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000433881.1_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000424654.1_Frame_Shift_Del_p.P324fs	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	324						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCCTGAAGAACCTTGTGCTGA	0.483										HNSCC(28;0.073)			9	51	---	---	---	---					-	94540395	C	-	94540395	7	5	336	1	0	1	0	1	0	0	0	0	12454	507	18	0	972	0	PPP1R9A	7	94540395	Frame_Shift_Del	DEL	C	TCGA-CV-A45W-01A-11D-A25D-08	1605081	94540395	64598268	288	62406											
MUC17	140453	broad.mit.edu	37	chr7	100675534	100675534	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcactccattaacaagAatgcctctcagcgtgatgct	12	9	9	11	1	1	2	1	1	1	1	3	3	2	3	2	1	5	2	2	1	4	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:100675534A>C	ENST00000306151.4	+	3	901	c.837A>C	c.(835-837)agA>agC	p.R279S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	279	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CATTAACAAGAATGCCTCTCA	0.507													19	215					0	0	0	0	C	100675534	A	C	100675534	3	2	336	1	0	0	0	0	1	0	0	0	10044	243	9	5	847	5	MUC17	7	100675534	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	6135139	100675534	58463129	289	62407											
MUC17	140453	broad.mit.edu	37	chr7	100679319	100679319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaacaactcctgctgtcaCcagcacacctgtgaccactt	10	10	5	16	0	2	1	2	1	0	0	3	1	3	1	4	0	4	2	4	0	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:100679319C>A	ENST00000306151.4	+	3	4686	c.4622C>A	c.(4621-4623)aCc>aAc	p.T1541N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1541	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGCTGTCACCAGCACACCT	0.478													20	281					5.03518e-11	7.27805e-11	1	0	A	100679319	C	A	100679319	3	1	336	1	0	0	0	0	1	0	0	0	10044	507	18	4	4632	4	MUC17	7	100679319	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	3785	100679319	58459344	290	62408											
PIK3CG	5294	broad.mit.edu	37	chr7	106545637	106545637	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgatgctgatgacaggAatgccccagttaacaagcaa	14	8	9	10	0	0	3	0	3	0	0	1	4	1	4	3	1	4	3	3	1	4	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:106545637A>C	ENST00000359195.3	+	11	3424	c.3114A>C	c.(3112-3114)ggA>ggC	p.G1038G	PIK3CG_ENST00000496166.1_Silent_p.G1038G|PIK3CG_ENST00000440650.2_Silent_p.G1038G	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	1038	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGATGACAGGAATGCCCCAGT	0.423													20	113					0	0	0	0	C	106545637	A	C	106545637	2	2	336	1	0	0	0	0	0	0	0	1	11988	233	9	5		5	PIK3CG	7	106545637	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	5866318	106545637	52593026	291	62409											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518278	113518278	+	Frame_Shift_Del	DEL	T	T	-																															aataccctggatttctcttgTtgaattacaaatattttctg																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:113518278delT	ENST00000284601.3	-	4	2937	c.2869delA	c.(2869-2871)cafs	p.T957fs		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	957					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTTCTCTTGTTGAATTACAA	0.388													7	88	---	---	---	---					-	113518278	T	-	113518278	7	5	336	1	0	1	0	1	0	0	0	0	12447	1725	60	0	503	0	PPP1R3A	7	113518278	Frame_Shift_Del	DEL	T	TCGA-CV-A45W-01A-11D-A25D-08	6972641	113518278	45620385	292	62410											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518646	113518646	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtgccacatttctccCtgtcatgtgtcttcctagga	6	15	7	13	0	3	0	1	0	2	0	6	1	5	1	4	1	1	0	4	1	1	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:113518646C>G	ENST00000284601.3	-	4	2569	c.2501G>C	c.(2500-2502)aGg>aCg	p.R834T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	834					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACATTTCTCCCTGTCATGTGT	0.373													9	117					0	0	0	0	G	113518646	C	G	113518646	3	3	336	1	0	0	0	0	1	0	0	0	12447	681	24	4	871	4	PPP1R3A	7	113518646	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	368	113518646	45620017	293	62411											
TFEC	22797	broad.mit.edu	37	chr7	115580669	115580669	+	Frame_Shift_Del	DEL	G	G	-																															tgctttctttggaaactgcaGgggaagtggcagatagcaga																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:115580669delG	ENST00000265440.7	-	8	1160	c.980delC	c.(979-981)ctfs	p.P327fs	TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000457268.1_Frame_Shift_Del_p.P260fs|TFEC_ENST00000320239.7_Frame_Shift_Del_p.P298fs	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	327	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GGAAACTGCAGGGGAAGTGGC	0.408													22	109	---	---	---	---					-	115580669	G	-	115580669	7	5	336	1	0	1	0	1	0	0	0	0	15896	1000	35	0	67	0	TFEC	7	115580669	Frame_Shift_Del	DEL	G	TCGA-CV-A45W-01A-11D-A25D-08	2062023	115580669	43557994	294	62412											
ST7	7982	broad.mit.edu	37	chr7	116593615	116593615	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctgaagcggccacgggCtttctggagcagctcaagtc	8	8	14	11	2	2	1	1	1	1	0	3	2	2	2	1	4	3	4	1	4	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:116593615C>G	ENST00000265437.5	+	1	235	c.21C>G	c.(19-21)ggC>ggG	p.G7G	ST7_ENST00000393451.3_Silent_p.G7G|ST7_ENST00000393446.2_Silent_p.G7G|ST7_ENST00000323984.3_Silent_p.G7G|ST7_ENST00000393449.1_Silent_p.G7G|ST7-AS1_ENST00000456775.1_RNA	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	7						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CGGCCACGGGCTTTCTGGAGC	0.612													6	58					0	0	0	0	G	116593615	C	G	116593615	2	3	336	1	0	0	0	0	0	0	0	1	15319	784	28	4		4	ST7	7	116593615	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1012946	116593615	42545048	295	62413											
CFTR	1080	broad.mit.edu	37	chr7	117267747	117267747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggccaaatgactgtcaaaGatctcacagcaaaatacaca	17	6	8	10	0	2	2	2	1	1	1	3	2	2	2	1	2	2	1	1	2	5	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:117267747G>A	ENST00000003084.6	+	22	3772	c.3640G>A	c.(3640-3642)Gat>Aat	p.D1214N	CFTR_ENST00000454343.1_Missense_Mutation_p.D1153N|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1214	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GACTGTCAAAGATCTCACAGC	0.428									Cystic Fibrosis				18	63					0	0	0	0	A	117267747	G	A	117267747	3	1	336	1	0	0	0	0	1	0	0	0	3323	942	33	2	3726	2	CFTR	7	117267747	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	674132	117267747	41870916	296	62414											
SLC13A1	6561	broad.mit.edu	37	chr7	122811906	122811906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctatggatgttgctaaaCagataactccaattagcagt	13	14	7	7	0	1	1	0	0	1	1	2	2	2	2	1	1	4	3	1	1	6	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:122811906C>T	ENST00000194130.2	-	3	320	c.281G>A	c.(280-282)tGt>tAt	p.C94Y	SLC13A1_ENST00000539873.1_Missense_Mutation_p.C30Y	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	94						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGTTGCTAAACAGATAACTCC	0.353													15	87					0	0	0	0	T	122811906	C	T	122811906	3	4	336	1	0	0	0	0	1	0	0	0	14479	478	17	4	1558	4	SLC13A1	7	122811906	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	5544159	122811906	36326757	297	62415											
GCC1	79571	broad.mit.edu	37	chr7	127222068	127222068	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaattcatgaaaatggcaTcatctcttgccagaaggcca	14	9	9	9	0	3	2	2	1	1	1	4	3	3	3	2	3	1	1	2	3	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:127222068T>C	ENST00000321407.2	-	2	2752	c.2328A>G	c.(2326-2328)tgA>tgG	p.*776W		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	0						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAAAATGGCATCATCTCTTGC	0.463													24	54					0	0	0	0	C	127222068	T	C	127222068	4	2	336	1	0	0	0	0	0	0	0	0	6334	1448	50	5	3	5	GCC1	7	127222068	Nonstop_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	4410162	127222068	31916595	298	62416											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138432261	138432261	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggttccatgaccacagtctCcaaacatcacagcgaacagg	13	6	8	14	2	2	1	1	1	1	0	4	2	3	1	3	2	3	1	3	2	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:138432261C>A	ENST00000310018.2	-	13	1511	c.1229G>T	c.(1228-1230)gGa>gTa	p.G410V	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G410V|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G410V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	410					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACCACAGTCTCCAAACATCAC	0.567													15	45					2.32078e-09	3.23309e-09	1	0	A	138432261	C	A	138432261	3	1	336	1	0	0	0	0	1	0	0	0	1174	855	30	2	1333	2	ATP6V0A4	7	138432261	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	11210193	138432261	20706402	299	62417											
KIAA1549	57670	broad.mit.edu	37	chr7	138597198	138597198	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcctgcacagctcttcTggccagcactgcaaatgaaa	11	9	8	13	0	2	1	0	1	2	0	3	1	3	1	2	1	5	5	2	1	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:138597198T>C	ENST00000440172.1	-	3	2935	c.2887A>G	c.(2887-2889)Aga>Gga	p.R963G	KIAA1549_ENST00000242365.4_Missense_Mutation_p.R913G|KIAA1549_ENST00000422774.1_Missense_Mutation_p.R963G	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	963						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACAGCTCTTCTGGCCAGCACT	0.468			O	BRAF	pilocytic astrocytoma								7	32					0	0	0	0	C	138597198	T	C	138597198	3	2	336	1	0	0	0	0	1	0	0	0	8295	1588	55	5	3037	5	KIAA1549	7	138597198	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	164937	138597198	20541465	300	62418											
MGAM	8972	broad.mit.edu	37	chr7	141727027	141727027	+	Splice_Site	SNP	G	G	T																															gttgttcaagaatatctagaGgtaaacttaggatgtcaaga																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:141727027G>T	ENST00000475668.2	+	9	1149	c.1095_splice	c.e9+1	p.E365_splice	MGAM_ENST00000549489.2_Splice_Site_p.E365_splice			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	365	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATATCTAGAGGTAAACTTAG	0.413													18	87					1.02788e-11	1.49915e-11	1	0	T	141727027	G	T	141727027	5	4	336	1	0	0	0	0	0	0	1	0	9610	1014	35	4	1125	4	MGAM	7	141727027	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3129829	141727027	17411636	301	62419	746	2									
MGAM	8972	broad.mit.edu	37	chr7	141727028	141727028	+	Splice_Site	SNP	G	G	T																															ttgttcaagaatatctagagGtaaacttaggatgtcaagat																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:141727028G>T	ENST00000475668.2	+	9	1149		c.e9+1		MGAM_ENST00000549489.2_Splice_Site			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATATCTAGAGGTAAACTTAGG	0.413													18	85					1.02788e-11	1.49915e-11	1	0	T	141727028	G	T	141727028	5	4	336	1	0	0	0	0	0	0	1	0	9610	1275	44	4	1126	4	MGAM	7	141727028	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1	141727028	17411635	302	62420	746	2									
MGAM	8972	broad.mit.edu	37	chr7	141740523	141740523	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttatctgcatgcatcaggGgagccaagtgagatggagga	12	9	14	6	0	2	1	1	1	1	1	2	5	2	4	1	4	3	2	1	4	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:141740523G>C	ENST00000475668.2	+	21	2429	c.2373_splice	c.e21-1	p.G792_splice	MGAM_ENST00000549489.2_Splice_Site_p.G792_splice			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	792	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGCATCAGGGGAGCCAAGTG	0.473													5	26					0	0	0	0	C	141740523	G	C	141740523	5	2	336	1	0	0	0	0	0	0	1	0	9610	1246	43	4	2453	4	MGAM	7	141740523	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	13495	141740523	17398140	303	62421											
CLCN1	1180	broad.mit.edu	37	chr7	143013433	143013433	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagaatgggggcctccAgcacaggctccggaaggatg	9	6	15	11	1	1	1	0	1	1	1	3	4	3	3	3	5	1	2	3	5	2	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:143013433A>T	ENST00000343257.2	+	1	215	c.128A>T	c.(127-129)cAg>cTg	p.Q43L		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	43					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)					GGGGGCCTCCAGCACAGGCTC	0.607													19	89					0	0	0	0	T	143013433	A	T	143013433	3	4	336	1	0	0	0	0	1	0	0	0	3492	188	7	5	130	5	CLCN1	7	143013433	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	1272910	143013433	16125230	304	62422											
OR6B1	135946	broad.mit.edu	37	chr7	143701371	143701371	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacaacagcatctctttCacactctgtatgatacaact	13	12	5	11	0	3	2	1	2	2	0	4	2	3	2	0	0	5	2	0	0	5	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:143701371C>A	ENST00000408922.2	+	1	350	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCATCTCTTTCACACTCTGTA	0.478													10	168					3.86212e-05	4.52916e-05	1	0	A	143701371	C	A	143701371	3	1	336	1	0	0	0	0	1	0	0	0	11258	825	29	2	284	2	OR6B1	7	143701371	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	687938	143701371	15437292	305	62423											
CNTNAP2	26047	broad.mit.edu	37	chr7	147964138	147964138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagctcgatcattatcCttctgtgagttaccatctgc	7	14	7	13	1	3	1	1	1	2	0	5	2	4	1	3	0	4	3	3	0	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:147964138C>A	ENST00000361727.3	+	21	3911	c.3395C>A	c.(3394-3396)cCt>cAt	p.P1132H	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P191H	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1132	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATCATTATCCTTCTGTGAGT	0.458										HNSCC(39;0.1)			16	100					4.75885e-15	7.26871e-15	1	0	A	147964138	C	A	147964138	3	1	336	1	0	0	0	0	1	0	0	0	3677	681	24	4	3477	4	CNTNAP2	7	147964138	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	4262767	147964138	11174525	306	62424											
ZNF425	155054	broad.mit.edu	37	chr7	148801952	148801952	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctcttcaggcggaagcaCcggtcacactgcggacactg	8	6	11	16	3	3	0	2	0	1	0	3	2	3	2	3	4	2	1	3	4	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:148801952C>A	ENST00000378061.2	-	4	1143	c.1011G>T	c.(1009-1011)cgG>cgT	p.R337R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	337					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGCGGAAGCACCGGTCACACT	0.667													25	56					3.73808e-20	5.78615e-20	1	0	A	148801952	C	A	148801952	2	1	336	1	0	0	0	0	0	0	0	1	17994	494	18	4		4	ZNF425	7	148801952	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	837814	148801952	10336711	307	62425											
ZNF746	155061	broad.mit.edu	37	chr7	149174789	149174789	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcctggagctggagcTcaccctcctgcttgatctgc	4	11	11	15	0	2	1	1	1	1	0	4	3	4	3	3	2	5	5	3	2	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:149174789T>A	ENST00000340622.3	-	5	858	c.578A>T	c.(577-579)gAg>gTg	p.E193V	ZNF746_ENST00000458143.2_Missense_Mutation_p.E193V			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	193					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAGCTGGAGCTCACCCTCCTG	0.662													10	31					0	0	0	0	A	149174789	T	A	149174789	3	1	336	1	0	0	0	0	1	0	0	0	18223	1551	54	5	1371	5	ZNF746	7	149174789	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	372837	149174789	9963874	308	62426											
SSPO	23145	broad.mit.edu	37	chr7	149482270	149482270	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccgtcacagtgggcagTggtacctgcccaacgccacc	7	6	11	17	2	1	0	1	0	0	0	1	0	1	0	6	2	4	2	6	2	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:149482270T>C	ENST00000378016.2	+	0	2944							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGTGGGCAGTGGTACCTGCC	0.632													19	96					0	0	0	0	C	149482270	T	C	149482270	1	2	336	0	1	0	0	0	0	0	0	0	15279	1696	59	5		5	SSPO	7	149482270	RNA	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	307481	149482270	9656393	309	62427											
WDR86	349136	broad.mit.edu	37	chr7	151097245	151097245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgcccggtcagcacgtcCcacctcctgatggtgcagtc	6	8	10	17	2	1	1	1	1	0	0	4	1	3	1	4	2	3	2	4	2	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:151097245C>A	ENST00000334493.6	-	2	676	c.246G>T	c.(244-246)tgG>tgT	p.W82C	WDR86_ENST00000469830.2_Missense_Mutation_p.W82C|WDR86_ENST00000477459.1_5'UTR	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	82										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGCACGTCCCACCTCCTGA	0.597													4	23					0.150653	0.152925	1	0	A	151097245	C	A	151097245	3	1	336	1	0	0	0	0	1	0	0	0	17430	624	22	4	904	4	WDR86	7	151097245	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1614975	151097245	8041418	310	62428											
RP1L1	94137	broad.mit.edu	37	chr8	10467442	10467442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagaccctcttcaagaGcctctccttgcagtcctcct	6	13	6	16	0	3	2	1	1	2	2	6	3	5	2	5	0	2	1	5	0	1	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:10467442G>T	ENST00000382483.3	-	4	4389	c.4166C>A	c.(4165-4167)gCt>gAt	p.A1389D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1389					intracellular signal transduction					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)		CTCTTCAAGAGCCTCTCCTTG	0.532													15	294					2.5808e-16	3.97955e-16	1	0	T	10467442	G	T	10467442	3	4	336	1	0	0	0	0	1	0	0	0	13618	971	34	4	3040	4	RP1L1	8	10467442	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08		10467442	135896580	311	62429											
PSD3	23362	broad.mit.edu	37	chr8	18490169	18490169	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttccgagccaagaatccActtttgtacacagcagcatt	12	12	6	11	1	0	1	0	0	0	1	2	2	2	1	3	0	4	3	3	0	3	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:18490169A>T	ENST00000440756.2	-	11	2472	c.2370T>A	c.(2368-2370)agT>agA	p.S790R	PSD3_ENST00000286485.8_Missense_Mutation_p.S254R|PSD3_ENST00000523619.1_Missense_Mutation_p.S723R|PSD3_ENST00000428502.2_Missense_Mutation_p.S117R|PSD3_ENST00000327040.8_Missense_Mutation_p.S788R			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	789	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCAAGAATCCACTTTTGTACA	0.368													4	48					0	0	0	0	T	18490169	A	T	18490169	3	4	336	1	0	0	0	0	1	0	0	0	12727	156	6	5	803	5	PSD3	8	18490169	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	8022727	18490169	127873853	312	62430											
INTS10	55174	broad.mit.edu	37	chr8	19681556	19681556	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagatggataaaggaagacgGtaataaatagcttatttcca	17	10	9	5	1	0	2	0	0	0	2	1	4	1	4	1	3	1	2	1	3	8	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:19681556G>T	ENST00000397977.3	+	7	1234		c.e7+1			NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10						snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AAGGAAGACGGTAATAAATAG	0.353													6	99					0.00198382	0.00216905	1	0	T	19681556	G	T	19681556	5	4	336	1	0	0	0	0	0	0	1	0	7829	1275	44	4	863	4	INTS10	8	19681556	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1191387	19681556	126682466	313	62431											
ADAM7	8756	broad.mit.edu	37	chr8	24357694	24357694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgactgctcttccaggtgGatggccacggactccagtgc	7	10	12	12	1	1	1	0	1	1	0	3	3	3	3	3	4	2	1	3	4	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:24357694G>T	ENST00000175238.6	+	18	2010	c.1927G>T	c.(1927-1929)Gat>Tat	p.D643Y	ADAM7_ENST00000380789.1_Missense_Mutation_p.D643Y|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D415Y|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	643	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		cttccaggtggatggccacgg	0.428													3	19					0.00024832	0.000283794	1	0	T	24357694	G	T	24357694	3	4	336	1	0	0	0	0	1	0	0	0	251	1174	41	2	1997	2	ADAM7	8	24357694	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	4676138	24357694	122006328	314	62432											
UNC5D	137970	broad.mit.edu	37	chr8	35425630	35425630	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaggtttgaaggtccgcGaagtgttcatcaatgttact	10	13	10	8	2	3	1	3	1	0	0	4	2	4	1	1	2	1	3	1	2	4	3	rs151297319		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:35425630G>T	ENST00000287272.2	+	3	357	c.337G>T	c.(337-339)Gaa>Taa	p.E113*	UNC5D_ENST00000416672.1_Nonsense_Mutation_p.E113*|UNC5D_ENST00000404895.2_Nonsense_Mutation_p.E113*|UNC5D_ENST00000453357.2_Nonsense_Mutation_p.E108*|UNC5D_ENST00000420357.1_Nonsense_Mutation_p.E113*			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	113	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAAGGTCCGCGAAGTGTTCAT	0.483													14	194					2.31682e-05	2.74084e-05	1	0	T	35425630	G	T	35425630	4	4	336	1	0	0	0	0	0	1	0	0	17091	1059	37	3	347	3	UNC5D	8	35425630	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	11067936	35425630	110938392	315	62433											
IKBKB	3551	broad.mit.edu	37	chr8	42179608	42179608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacagtcaggaaatggtacGgctgctgcttcaggcaattc	10	10	12	9	1	2	1	2	1	0	0	3	2	2	2	0	4	3	5	0	4	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:42179608G>A	ENST00000520810.1	+	18	1961	c.1775G>A	c.(1774-1776)cGg>cAg	p.R592Q	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.R533Q|IKBKB_ENST00000379708.3_Missense_Mutation_p.R369Q|IKBKB_ENST00000520835.1_Missense_Mutation_p.R590Q	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	592					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GAAATGGTACGGCTGCTGCTT	0.537													13	119					0	0	0	0	A	42179608	G	A	42179608	3	1	336	1	0	0	0	0	1	0	0	0	7664	1116	39	1	1841	1	IKBKB	8	42179608	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	6753978	42179608	104184414	316	62434											
RB1CC1	9821	broad.mit.edu	37	chr8	53573696	53573696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttttcttcttacaacctCaacaacagctaagcagtaca	14	12	3	12	0	3	0	1	0	2	0	3	0	3	0	1	0	7	3	1	0	6	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:53573696C>T	ENST00000025008.5	-	10	2027	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	RB1CC1_ENST00000435644.2_Missense_Mutation_p.E502K|RB1CC1_ENST00000539297.1_Missense_Mutation_p.E502K|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	502					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTTACAACCTCAACAACAGCT	0.358													24	76					0	0	0	0	T	53573696	C	T	53573696	3	4	336	1	0	0	0	0	1	0	0	0	13181	835	29	2	3340	2	RB1CC1	8	53573696	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	11394088	53573696	92790326	317	62435											
PLAG1	5324	broad.mit.edu	37	chr8	57079872	57079872	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaggtcaccacttgttgCggcatgcaaggccaagtgac	9	8	14	10	1	1	2	1	2	0	0	1	2	1	2	2	4	2	3	2	4	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:57079872C>G	ENST00000316981.3	-	5	912	c.433G>C	c.(433-435)Gca>Cca	p.A145P	PLAG1_ENST00000423799.2_Missense_Mutation_p.A63P|PLAG1_ENST00000429357.2_Missense_Mutation_p.A145P	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	145	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CCACTTGTTGCGGCATGCAAG	0.468			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								4	47					0	0	0	0	G	57079872	C	G	57079872	3	3	336	1	0	0	0	0	1	0	0	0	12090	768	27	3	1073	3	PLAG1	8	57079872	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	3506176	57079872	89284150	318	62436											
CA8	767	broad.mit.edu	37	chr8	61178546	61178546	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctggttttctcttccccAgtgaaatctcacttcgtaca	8	14	6	13	2	2	1	1	1	2	0	6	1	3	1	2	1	1	3	2	1	2	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:61178546A>T	ENST00000317995.4	-	3	619	c.355T>A	c.(355-357)Tgg>Agg	p.W119R		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	119					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TCTCTTCCCCAGTGAAATCTC	0.393													7	43					0	0	0	0	T	61178546	A	T	61178546	3	4	336	1	0	0	0	0	1	0	0	0	2548	188	7	5	541	5	CA8	8	61178546	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	4098674	61178546	85185476	319	62437											
CHD7	55636	broad.mit.edu	37	chr8	61778055	61778055	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaatgagaatgaagacGagaacaaagactctgagaaa	22	4	11	4	1	1	6	0	3	1	5	1	10	1	7	0	1	1	0	0	1	7	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:61778055G>T	ENST00000423902.2	+	38	9036	c.8557G>T	c.(8557-8559)Gag>Tag	p.E2853*	CHD7_ENST00000524602.1_Nonsense_Mutation_p.E804*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2853					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAATGAAGACGAGAACAAAGA	0.493													5	36					0.014758	0.0154462	1	0	T	61778055	G	T	61778055	4	4	336	1	0	0	0	0	0	1	0	0	3359	1059	37	3	8703	3	CHD7	8	61778055	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	599509	61778055	84585967	320	62438											
RPL7	6129	broad.mit.edu	37	chr8	74204133	74204133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctttcgaacctttgggctCactccattgatactgtggtg	7	14	9	11	1	1	1	1	1	0	0	3	2	2	1	3	2	2	1	3	2	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:74204133C>T	ENST00000396467.1	-	4	321	c.183G>A	c.(181-183)gtG>gtA	p.V61V	RPL7_ENST00000352983.2_Silent_p.V101V|RPL7_ENST00000396466.1_Silent_p.V61V|RPL7_ENST00000396465.1_Silent_p.V61V	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	ribosomal protein L7	101					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CCTTTGGGCTCACTCCATTGA	0.393													14	117					0	0	0	0	T	74204133	C	T	74204133	2	4	336	1	0	0	0	0	0	0	0	1	13684	813	29	2		2	RPL7	8	74204133	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	12426078	74204133	72159889	321	62439											
ZFHX4	79776	broad.mit.edu	37	chr8	77764186	77764186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaataaaaagcaaactcctGatttaatctctgctcaacct	16	12	3	10	0	2	1	1	1	1	0	4	1	3	1	2	0	4	2	2	0	8	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:77764186G>T	ENST00000521891.2	+	10	5477	c.5029G>T	c.(5029-5031)Gat>Tat	p.D1677Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1632Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1632Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1651Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1632	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D1677N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAAACTCCTGATTTAATCTC	0.433										HNSCC(33;0.089)			6	67					5.9392e-07	7.60519e-07	1	0	T	77764186	G	T	77764186	3	4	336	1	0	0	0	0	1	0	0	0	17730	1290	45	2	5063	2	ZFHX4	8	77764186	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3560053	77764186	68599836	322	62440											
SLC26A7	115111	broad.mit.edu	37	chr8	92406494	92406494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatcttccaacaatgccaCcgctctgaggattgggtggt	8	11	12	10	1	2	1	0	1	2	0	3	3	3	3	3	4	2	1	3	4	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:92406494C>T	ENST00000309536.2	+	19	2204	c.1984C>T	c.(1984-1986)Ccg>Tcg	p.P662S	SLC26A7_ENST00000276609.3_Intron|SLC26A7_ENST00000520249.1_Intron|SLC26A7_ENST00000523719.1_Intron	NM_134266.1	NP_599028.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	0						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AACAATGCCACCGCTCTGAGG	0.413													6	33					0	0	0	0	T	92406494	C	T	92406494	3	4	336	1	0	0	0	0	1	0	0	0	14610	507	18	4	2054	4	SLC26A7	8	92406494	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	14642308	92406494	53957528	323	62441											
RAD54B	25788	broad.mit.edu	37	chr8	95390855	95390855	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccatctctccatactctaGacattgcctatagaaaataa	15	11	4	11	0	2	2	0	0	2	2	4	3	3	2	3	0	2	0	3	0	7	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:95390855G>C	ENST00000336148.5	-	13	2379	c.2255C>G	c.(2254-2256)tCt>tGt	p.S752C		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CCATACTCTAGACATTGCCTA	0.358								Direct reversal of damage;Homologous recombination					9	34					0	0	0	0	C	95390855	G	C	95390855	3	2	336	1	0	0	0	0	1	0	0	0	13074	942	33	2	489	2	RAD54B	8	95390855	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2984361	95390855	50973167	324	62442											
CSMD3	114788	broad.mit.edu	37	chr8	113256776	113256776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tacgacatttgcatgagcagGagtttctggctgtttacagc	9	13	11	8	1	1	1	0	1	1	0	1	3	1	2	0	2	5	5	0	2	2	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:113256776G>C	ENST00000297405.5	-	65	10493	c.10249C>G	c.(10249-10251)Cct>Gct	p.P3417A	CSMD3_ENST00000352409.3_Missense_Mutation_p.P3347A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3248A|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3377A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3417	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCATGAGCAGGAGTTTCTGGC	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	73					0	0	0	0	C	113256776	G	C	113256776	3	2	336	1	0	0	0	0	1	0	0	0	3978	1174	41	2	902	2	CSMD3	8	113256776	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	17865921	113256776	33107246	325	62443											
CSMD3	114788	broad.mit.edu	37	chr8	113299424	113299424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgaaattgctttcctgtCtagagccatggccgggagta	8	13	11	9	1	2	2	0	1	2	1	3	3	3	3	3	2	2	2	3	2	3	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:113299424C>T	ENST00000297405.5	-	58	9444	c.9200G>A	c.(9199-9201)aGa>aAa	p.R3067K	CSMD3_ENST00000352409.3_Missense_Mutation_p.R2997K|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2898K|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3027K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3067	Sushi 22.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTTTCCTGTCTAGAGCCATG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	101					0	0	0	0	T	113299424	C	T	113299424	3	4	336	1	0	0	0	0	1	0	0	0	3978	913	32	2	1979	2	CSMD3	8	113299424	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	42648	113299424	33064598	326	62444											
CSMD3	114788	broad.mit.edu	37	chr8	113318349	113318349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattacaaaaataggtaactCgcgttcctaccaaatagtct	15	11	5	10	2	1	0	0	0	1	0	3	0	2	0	2	1	3	2	2	1	8	6	rs143305992		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:113318349C>A	ENST00000297405.5	-	51	8202	c.7958G>T	c.(7957-7959)cGa>cTa	p.R2653L	CSMD3_ENST00000352409.3_Missense_Mutation_p.R2583L|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2549L|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2613L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2653	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAGGTAACTCGCGTTCCTAC	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	61					1.15088e-07	1.50471e-07	1	0	A	113318349	C	A	113318349	3	1	336	1	0	0	0	0	1	0	0	0	3978	884	31	3	3249	3	CSMD3	8	113318349	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	18925	113318349	33045673	327	62445											
CSMD3	114788	broad.mit.edu	37	chr8	113519006	113519006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcggatatggatgagggaaGtttggtgaaagaataaagcc	14	9	15	3	1	0	3	0	2	0	1	0	6	0	6	1	4	2	1	1	4	6	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:113519006G>C	ENST00000297405.5	-	29	5053	c.4809C>G	c.(4807-4809)aaC>aaG	p.N1603K	CSMD3_ENST00000352409.3_Missense_Mutation_p.N1603K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N1499K|CSMD3_ENST00000343508.3_Missense_Mutation_p.N1563K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1603	CUB 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATGAGGGAAGTTTGGTGAAA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	53					0	0	0	0	C	113519006	G	C	113519006	3	2	336	1	0	0	0	0	1	0	0	0	3978	1020	36	4	6486	4	CSMD3	8	113519006	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	200657	113519006	32845016	328	62446											
CSMD3	114788	broad.mit.edu	37	chr8	113988122	113988122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatctgttcagcatgtcttGgtcttctcctggtactttgt	4	19	8	10	0	5	0	1	0	4	0	6	0	5	0	1	2	2	3	1	2	2	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:113988122G>T	ENST00000297405.5	-	7	1530	c.1286C>A	c.(1285-1287)cCa>cAa	p.P429Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.P429Q|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.P389Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	429						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCATGTCTTGGTCTTCTCCT	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	120					1.5842e-08	2.14052e-08	1	0	T	113988122	G	T	113988122	3	4	336	1	0	0	0	0	1	0	0	0	3978	1348	47	4	10097	4	CSMD3	8	113988122	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	469116	113988122	32375900	329	62447											
COL14A1	7373	broad.mit.edu	37	chr8	121222140	121222140	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctggggatgaaaaagaGgtaaccacttcctacctatt	12	10	10	9	0	0	2	0	1	0	1	1	3	1	3	3	4	2	2	3	4	5	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:121222140G>C	ENST00000297848.3	+	12	1737	c.1467_splice	c.e12+1	p.E489_splice	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Splice_Site_p.E489_splice|COL14A1_ENST00000247781.3_Splice_Site_p.E394_splice|COL14A1_ENST00000309791.4_Splice_Site_p.E489_splice	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	489	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATGAAAAAGAGGTAACCACTT	0.373													9	66					0	0	0	0	C	121222140	G	C	121222140	5	2	336	1	0	0	0	0	0	0	1	0	3701	1014	35	4	1509	4	COL14A1	8	121222140	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	7234018	121222140	25141882	330	62448											
KCNQ3	3786	broad.mit.edu	37	chr8	133187702	133187702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggtagtgactcaccaGgccccaccacagggcatctg	10	6	10	15	0	2	1	1	1	1	0	3	1	3	1	5	3	0	2	5	3	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:133187702G>T	ENST00000388996.4	-	5	1351	c.931C>A	c.(931-933)Ctg>Atg	p.L311M	KCNQ3_ENST00000521134.1_Missense_Mutation_p.L191M|KCNQ3_ENST00000519445.1_Missense_Mutation_p.L311M	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	311					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGACTCACCAGGCCCCACCAC	0.532													11	105					0.010729	0.0113173	1	0	T	133187702	G	T	133187702	3	4	336	1	0	0	0	0	1	0	0	0	8137	991	35	4	1731	4	KCNQ3	8	133187702	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	11965562	133187702	13176320	331	62449											
FAM135B	51059	broad.mit.edu	37	chr8	139164628	139164628	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcttcgggcctctgacCaggcgacggagcttggctca	5	8	13	15	3	2	1	1	1	1	0	3	3	2	2	3	4	2	3	3	4	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:139164628C>A	ENST00000395297.1	-	13	2260	c.2090G>T	c.(2089-2091)tGg>tTg	p.W697L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	697										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCCTCTGACCAGGCGACGGA	0.557										HNSCC(54;0.14)			14	48					1.41608e-15	2.17114e-15	1	0	A	139164628	C	A	139164628	3	1	336	1	0	0	0	0	1	0	0	0	5490	595	21	4	2162	4	FAM135B	8	139164628	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	5976926	139164628	7199394	332	62450											
FAM135B	51059	broad.mit.edu	37	chr8	139277987	139277987	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaactcggaagaccacagCatcatttatgggtacctctt	12	11	8	10	1	2	2	1	1	1	1	3	3	2	3	2	2	3	2	2	2	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:139277987C>A	ENST00000395297.1	-	4	426	c.256G>T	c.(256-258)Gct>Tct	p.A86S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	86										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAGACCACAGCATCATTTATG	0.498										HNSCC(54;0.14)			9	54					1.12685e-05	1.36711e-05	1	0	A	139277987	C	A	139277987	3	1	336	1	0	0	0	0	1	0	0	0	5490	710	25	4	4032	4	FAM135B	8	139277987	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	113359	139277987	7086035	333	62451											
COL22A1	169044	broad.mit.edu	37	chr8	139672721	139672721	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctggatttcctggtgcAccctaagagaagaaggaaat	12	10	10	9	0	1	2	0	0	1	2	3	5	2	4	3	3	1	1	3	3	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:139672721A>T	ENST00000303045.6	-	44	3689	c.3243T>A	c.(3241-3243)ggT>ggA	p.G1081G	COL22A1_ENST00000435777.1_Silent_p.G1061G|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1081	Collagen-like 9.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTCCTGGTGCACCCTAAGAGA	0.468										HNSCC(7;0.00092)			6	50					0	0	0	0	T	139672721	A	T	139672721	2	4	336	1	0	0	0	0	0	0	0	1	3711	146	6	5		5	COL22A1	8	139672721	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	394734	139672721	6691301	334	62452											
EPPK1	83481	broad.mit.edu	37	chr8	144942260	144942260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcccttggtgtcgtcgctgGggtccgccaggatgcggttc	3	10	16	12	4	0	0	0	0	0	0	4	1	1	1	3	5	2	2	3	5	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:144942260G>A	ENST00000525985.1	-	2	5233	c.5162C>T	c.(5161-5163)cCc>cTc	p.P1721L				P58107	EPIPL_HUMAN	epiplakin 1	1721						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCGTCGCTGGGGTCCGCCAG	0.667													19	90					0	0	0	0	A	144942260	G	A	144942260	3	1	336	1	0	0	0	0	1	0	0	0	5228	1232	43	4	2104	4	EPPK1	8	144942260	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	5269539	144942260	1421762	335	62453											
HSF1	3297	broad.mit.edu	37	chr8	145515554	145515554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgcgctcatctgctggagcCcggtgagggcagcgcgcggg	5	5	18	13	6	2	1	1	1	1	0	2	2	2	2	1	4	3	3	1	4	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:145515554C>A	ENST00000528838.1	+	1	275	c.115C>A	c.(115-117)Ccg>Acg	p.P39T		NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	39						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CTGCTGGAGCCCGGTGAGGGC	0.801													3	6					1	1	1	0	A	145515554	C	A	145515554	3	1	336	1	0	0	0	0	1	0	0	0	7445	623	22	4	117	4	HSF1	8	145515554	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	573294	145515554	848468	336	62454											
KDM4C	23081	broad.mit.edu	37	chr9	6990518	6990518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcagcaggcgccaagtGatgaaggtgagatggtgacc	12	6	16	7	1	0	5	0	5	0	1	0	6	0	5	2	3	2	2	2	3	3	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:6990518G>T	ENST00000381309.3	+	12	2345	c.1780G>T	c.(1780-1782)Gat>Tat	p.D594Y	KDM4C_ENST00000381306.3_Missense_Mutation_p.D594Y|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000535193.1_Missense_Mutation_p.D616Y|KDM4C_ENST00000543771.1_Missense_Mutation_p.D594Y|KDM4C_ENST00000428870.2_Missense_Mutation_p.D281Y|KDM4C_ENST00000536108.1_Missense_Mutation_p.D413Y	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	594					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GGCGCCAAGTGATGAAGGTGA	0.403													10	24					7.48243e-07	9.52095e-07	1	0	T	6990518	G	T	6990518	3	4	336	1	0	0	0	0	1	0	0	0	8183	1290	45	2	1892	2	KDM4C	9	6990518	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08		6990518	134222913	337	62455											
PTPRD	5789	broad.mit.edu	37	chr9	8389292	8389292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactccgttgttcccatatCattctccaaaagtccccaaa	11	11	4	15	1	2	0	1	0	1	0	6	0	5	0	5	0	0	3	5	0	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:8389292C>T	ENST00000381196.4	-	34	4869	c.4326G>A	c.(4324-4326)atG>atA	p.M1442I	PTPRD_ENST00000397617.3_Missense_Mutation_p.M1035I|PTPRD_ENST00000540109.1_Missense_Mutation_p.M1442I|PTPRD_ENST00000360074.4_Missense_Mutation_p.M1429I|PTPRD_ENST00000537002.1_Missense_Mutation_p.M1032I|PTPRD_ENST00000358503.5_Missense_Mutation_p.M1420I|PTPRD_ENST00000355233.5_Missense_Mutation_p.M1036I|PTPRD_ENST00000486161.1_Missense_Mutation_p.M1035I|PTPRD_ENST00000356435.5_Missense_Mutation_p.M1442I|PTPRD_ENST00000397606.3_Missense_Mutation_p.M1035I|PTPRD_ENST00000397611.3_Missense_Mutation_p.M1032I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1442	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTTCCCATATCATTCTCCAAA	0.393										TSP Lung(15;0.13)			35	122					0	0	0	0	T	8389292	C	T	8389292	3	4	336	1	0	0	0	0	1	0	0	0	12881	826	29	2	1452	2	PTPRD	9	8389292	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1398774	8389292	132824139	338	62456											
TYRP1	7306	broad.mit.edu	37	chr9	12704637	12704637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttgtctccaaatgatcCtatttttgtcctcctgcaca	8	16	4	13	0	1	1	0	1	1	0	5	1	4	1	5	0	1	1	5	0	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:12704637C>T	ENST00000388918.5	+	6	1322	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	TYRP1_ENST00000381137.2_Missense_Mutation_p.P107L|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Missense_Mutation_p.P108L	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	398					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CCAAATGATCCTATTTTTGTC	0.448									Oculocutaneous Albinism				30	82					0	0	0	0	T	12704637	C	T	12704637	3	4	336	1	0	0	0	0	1	0	0	0	16912	681	24	4	1211	4	TYRP1	9	12704637	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	4315345	12704637	128508794	339	62457											
IFNA8	3445	broad.mit.edu	37	chr9	21409540	21409540	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatgacctggagtcctGtgtgatgcaggaagtggggg	8	9	18	6	0	0	3	0	3	0	0	1	5	1	5	2	4	1	2	2	4	2	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:21409540G>C	ENST00000380205.1	+	1	395	c.365G>C	c.(364-366)tGt>tCt	p.C122S		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	122				SCVM -> VLCD (in Ref. 3; CAA23806 and 4; CAA23811).	blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CTGGAGTCCTGTGTGATGCAG	0.478													12	155					0	0	0	0	C	21409540	G	C	21409540	3	2	336	1	0	0	0	0	1	0	0	0	7596	1377	48	4	367	4	IFNA8	9	21409540	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	8704903	21409540	119803891	340	62458											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	8	6	10	17	3	2	1	2	1	0	0	4	1	3	1	3	1	4	4	3	1	0	0	rs121913387		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			3	17					0	0	0	0	A	21971186	G	A	21971186	4	1	336	1	0	0	0	0	0	1	0	0	3190	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	561646	21971186	119242245	341	62459											
RUSC2	9853	broad.mit.edu	37	chr9	35560590	35560590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccccaggctccaccaccccGagagggagtagtggaggggg	8	4	16	13	1	0	1	0	0	0	1	2	4	2	3	6	5	0	2	6	5	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:35560590G>A	ENST00000455600.1	+	10	4522	c.3953G>A	c.(3952-3954)cGa>cAa	p.R1318Q		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1318						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCACCACCCCGAGAGGGAGTA	0.662													8	32					0	0	0	0	A	35560590	G	A	35560590	3	1	336	1	0	0	0	0	1	0	0	0	13836	1058	37	1	3987	1	RUSC2	9	35560590	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	13589404	35560590	105652841	342	62460											
PCSK5	5125	broad.mit.edu	37	chr9	78943013	78943013	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaaccctcgtgggagctgCatggccaacgagaagtgctc	10	7	13	11	2	0	2	0	1	0	1	2	4	0	3	2	2	5	3	2	2	3	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:78943013C>A	ENST00000545128.1	+	32	4885	c.4347C>A	c.(4345-4347)tgC>tgA	p.C1449*		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	674					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTGGGAGCTGCATGGCCAACG	0.602													14	193					0.0242445	0.0251148	1	0	A	78943013	C	A	78943013	4	1	336	1	0	0	0	0	0	1	0	0	11674	725	25	4		4	PCSK5	9	78943013	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	43382423	78943013	62270418	343	62461											
PRUNE2	158471	broad.mit.edu	37	chr9	79325765	79325765	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatgttcctccgccaccgcCccttcagggatggggctgta	5	9	12	15	2	1	0	1	0	0	0	3	1	3	1	6	3	0	4	6	3	1	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:79325765C>A	ENST00000428286.1	-	8	1548	c.348G>T	c.(346-348)ggG>ggT	p.G116G	PRUNE2_ENST00000376718.3_Silent_p.G475G			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	475					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCGCCACCGCCCCTTCAGGGA	0.597													8	27					5.18039e-06	6.40024e-06	1	0	A	79325765	C	A	79325765	2	1	336	1	0	0	0	0	0	0	0	1	12720	610	22	4		4	PRUNE2	9	79325765	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	382752	79325765	61887666	344	62462											
VPS13A	23230	broad.mit.edu	37	chr9	79960036	79960036	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaatcacacaaagaatGaacttgttcaatacaatcaa	21	10	3	7	0	3	2	3	1	0	1	3	2	3	2	0	0	2	1	0	0	10	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:79960036G>T	ENST00000360280.3	+	52	7527	c.7267G>T	c.(7267-7269)Gaa>Taa	p.E2423*	VPS13A_ENST00000376634.4_Nonsense_Mutation_p.E2423*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.E2423*|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.E2384*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2423					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CACAAAGAATGAACTTGTTCA	0.318													6	107					0.0215528	0.0223551	1	0	T	79960036	G	T	79960036	4	4	336	1	0	0	0	0	0	1	0	0	17285	1291	45	2	7473	2	VPS13A	9	79960036	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	634271	79960036	61253395	345	62463											
SEMA4D	10507	broad.mit.edu	37	chr9	92014251	92014251	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctgagaccttccaataCacctgttgggatagagtcca	10	12	8	11	0	2	2	0	1	2	2	4	4	4	3	4	1	1	1	4	1	3	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:92014251C>G	ENST00000450295.1	-	5	1031	c.255G>C	c.(253-255)gtG>gtC	p.V85V	SEMA4D_ENST00000356444.2_Silent_p.V85V|SEMA4D_ENST00000455551.2_Silent_p.V85V|SEMA4D_ENST00000420987.1_Silent_p.V85V|SEMA4D_ENST00000422704.2_Silent_p.V85V|SEMA4D_ENST00000438547.2_Silent_p.V85V|SEMA4D_ENST00000343780.4_Silent_p.V85V|SEMA4D_ENST00000339861.4_Silent_p.V85V			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	85	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCTTCCAATACACCTGTTGGG	0.343													5	79					0	0	0	0	G	92014251	C	G	92014251	2	3	336	1	0	0	0	0	0	0	0	1	14121	465	17	4		4	SEMA4D	9	92014251	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	12054215	92014251	49199180	346	62464											
WNK2	65268	broad.mit.edu	37	chr9	96051804	96051804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctggagcccctgagaGgggaccagccccgctcagag	8	4	13	16	1	2	2	2	1	0	2	2	5	2	4	6	3	2	1	6	3	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:96051804G>A	ENST00000297954.4	+	20	4879	c.4879G>A	c.(4879-4881)Ggg>Agg	p.G1627R	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.G1202R|WNK2_ENST00000395477.2_Missense_Mutation_p.G1590R|WNK2_ENST00000349097.3_Missense_Mutation_p.G1239R|WNK2_ENST00000395475.2_3'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1627					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCCCTGAGAGGGGACCAGCC	0.697													6	24					0	0	0	0	A	96051804	G	A	96051804	3	1	336	1	0	0	0	0	1	0	0	0	17474	1000	35	4	4842	4	WNK2	9	96051804	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	4037553	96051804	45161627	347	62465											
C9orf3	84909	broad.mit.edu	37	chr9	97522187	97522187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaaagtcaagtcattgaggGgaccatagtgcttttcctcg	10	12	11	8	1	2	2	2	2	0	0	4	3	3	3	2	2	1	1	2	2	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:97522187G>T	ENST00000375315.2	+	1	122	c.122G>T	c.(121-123)gGg>gTg	p.G41V	C9orf3_ENST00000297979.5_Missense_Mutation_p.G41V|C9orf3_ENST00000277198.2_Missense_Mutation_p.G41V	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	41					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GTCATTGAGGGGACCATAGTG	0.443													15	72					2.61681e-11	3.79603e-11	1	0	T	97522187	G	T	97522187	3	4	336	1	0	0	0	0	1	0	0	0	2502	1232	43	4	124	4	C9orf3	9	97522187	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1470383	97522187	43691244	348	62466											
ERP44	23071	broad.mit.edu	37	chr9	102784415	102784415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgccaatgctttcactgatCgctgacccctgtattctctc	6	14	6	15	1	2	2	1	2	1	0	5	2	2	2	3	0	2	3	3	0	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:102784415C>G	ENST00000262455.6	-	5	579	c.380G>C	c.(379-381)cGa>cCa	p.R127P		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	127	Thioredoxin.				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TTTCACTGATCGCTGACCCCT	0.418													23	127					0	0	0	0	G	102784415	C	G	102784415	3	3	336	1	0	0	0	0	1	0	0	0	5281	884	31	3	872	3	ERP44	9	102784415	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	5262228	102784415	38429016	349	62467											
GRIN3A	116443	broad.mit.edu	37	chr9	104432892	104432892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgctccatactttccatccCctacaatatagaggtcgaag	12	11	6	12	1	0	1	0	0	0	1	4	2	3	1	4	1	3	1	4	1	6	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:104432892C>T	ENST00000361820.3	-	3	2402	c.1802G>A	c.(1801-1803)gGg>gAg	p.G601E		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	601					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTTTCCATCCCCTACAATATA	0.463													7	58					0	0	0	0	T	104432892	C	T	104432892	3	4	336	1	0	0	0	0	1	0	0	0	6833	623	22	4	1573	4	GRIN3A	9	104432892	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1648477	104432892	36780539	350	62468											
SVEP1	79987	broad.mit.edu	37	chr9	113245866	113245866	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtccttgtcacctcacCtgagttgtctgagaactgag	10	11	9	11	0	3	3	2	3	1	1	4	4	4	3	3	0	1	1	3	0	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:113245866C>T	ENST00000401783.2	-	10	2374	c.2038_splice	c.e10+1	p.G680_splice	SVEP1_ENST00000302728.8_Splice_Site_p.G680_splice|SVEP1_ENST00000374461.1_Splice_Site_p.G657_splice|SVEP1_ENST00000374469.1_Splice_Site_p.G657_splice|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	680	HYR 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTCACCTCACCTGAGTTGTCT	0.433													5	20					0	0	0	0	T	113245866	C	T	113245866	5	4	336	1	0	0	0	0	0	0	1	0	15510	695	24	4	8833	4	SVEP1	9	113245866	Splice_Site	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	8812974	113245866	27967565	351	62469											
TRIM32	22954	broad.mit.edu	37	chr9	119460324	119460324	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggggctgctcatgtgtcgGtcctgtgggcggcgtctgcc	1	11	18	11	3	2	0	1	0	1	0	4	0	3	0	2	5	2	2	2	5	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:119460324G>T	ENST00000450136.1	+	2	464	c.303G>T	c.(301-303)cgG>cgT	p.R101R	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.R101R|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	101					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						TCATGTGTCGGTCCTGTGGGC	0.597													16	100					9.16793e-09	1.24709e-08	1	0	T	119460324	G	T	119460324	2	4	336	1	0	0	0	0	0	0	0	1	16601	1248	44	4		4	TRIM32	9	119460324	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	6214458	119460324	21753107	352	62470											
OR1J4	26219	broad.mit.edu	37	chr9	125282154	125282154	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacctgtggctctcacctCtctgtggtgtctctgtatta	4	16	8	13	0	3	0	1	0	3	0	7	0	4	0	3	2	0	2	3	2	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:125282154C>T	ENST00000340750.1	+	1	735	c.735C>T	c.(733-735)ctC>ctT	p.L245L		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GCTCTCACCTCTCTGTGGTGT	0.473													14	69					0	0	0	0	T	125282154	C	T	125282154	2	4	336	1	0	0	0	0	0	0	0	1	11032	900	32	2		2	OR1J4	9	125282154	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	5821830	125282154	15931277	353	62471											
FAM73B	84895	broad.mit.edu	37	chr9	131825526	131825526	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtcctcccctcaggacGgagctgctgggctgctacag	5	9	13	14	1	2	0	1	0	1	0	4	2	4	2	3	3	4	4	3	3	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:131825526G>A	ENST00000358369.4	+	10	1240	c.1014G>A	c.(1012-1014)acG>acA	p.T338T	FAM73B_ENST00000406926.2_Intron|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	338						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CCCTCAGGACGGAGCTGCTGG	0.692													5	51					0	0	0	0	A	131825526	G	A	131825526	2	1	336	1	0	0	0	0	0	0	0	1	5664	1103	39	1		1	FAM73B	9	131825526	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	6543372	131825526	9387905	354	62472											
SETX	23064	broad.mit.edu	37	chr9	135206728	135206728	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcgttgttgataatggtttGaaatgccacaataggatcca	12	13	10	6	1	0	2	0	2	0	0	1	3	1	3	2	2	2	3	2	2	4	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:135206728G>C	ENST00000372169.2	-	8	1128	c.946C>G	c.(946-948)Caa>Gaa	p.Q316E	SETX_ENST00000393220.1_Missense_Mutation_p.Q316E|SETX_ENST00000224140.5_Missense_Mutation_p.Q316E			Q7Z333	SETX_HUMAN	senataxin	316					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATAATGGTTTGAAATGCCACA	0.423													6	86					0	0	0	0	C	135206728	G	C	135206728	3	2	336	1	0	0	0	0	1	0	0	0	14228	1299	45	2	7163	2	SETX	9	135206728	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3381202	135206728	6006703	355	62473											
RALGDS	5900	broad.mit.edu	37	chr9	135977032	135977032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagagccctgagacagagcGcttgtgggtgcgtgtggcag	7	7	18	9	2	0	3	0	1	0	3	0	4	0	3	1	2	3	3	1	2	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:135977032G>A	ENST00000393160.3	-	16	2517	c.2164C>T	c.(2164-2166)Cgc>Tgc	p.R722C	RALGDS_ENST00000372047.3_Missense_Mutation_p.R765C|RALGDS_ENST00000372062.3_Missense_Mutation_p.R748C|RALGDS_ENST00000372050.3_Missense_Mutation_p.R777C|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.R848C|RALGDS_ENST00000393157.3_Missense_Mutation_p.R776C	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	777					nerve growth factor receptor signaling pathway|Ras protein signal transduction|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)		GAGACAGAGCGCTTGTGGGTG	0.652			T	CIITA	"PMBL, Hodgkin Lymphona, "								15	76					0	0	0	0	A	135977032	G	A	135977032	3	1	336	1	0	0	0	0	1	0	0	0	13098	1087	38	1	427	1	RALGDS	9	135977032	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	770304	135977032	5236399	356	62474											
FCN2	2220	broad.mit.edu	37	chr9	137777670	137777670	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccgggactgggccacgtaCaagcagggcttcggcagtcg	8	6	15	12	4	0	0	0	0	0	0	2	1	0	1	2	4	3	4	2	4	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:137777670C>G	ENST00000350339.2	+	5	386	c.372C>G	c.(370-372)taC>taG	p.Y124*	FCN2_ENST00000291744.6_Nonsense_Mutation_p.Y162*	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	162	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGGCCACGTACAAGCAGGGCT	0.677													8	49					0	0	0	0	G	137777670	C	G	137777670	4	3	336	1	0	0	0	0	0	1	0	0	5837	489	17	4	508	4	FCN2	9	137777670	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1800638	137777670	3435761	357	62475											
PMPCA	23203	broad.mit.edu	37	chr9	139317557	139317557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcactaggcaacgtgaaGccggaagatgtgaagagagt	13	7	14	7	2	1	4	0	2	1	2	1	6	1	5	1	2	3	2	1	2	5	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:139317557G>T	ENST00000371717.3	+	13	1428	c.1419G>T	c.(1417-1419)aaG>aaT	p.K473N	PMPCA_ENST00000399219.3_Missense_Mutation_p.K342N	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	473					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GCAACGTGAAGCCGGAAGATG	0.632													8	12					3.09899e-07	3.99997e-07	1	0	T	139317557	G	T	139317557	3	4	336	1	0	0	0	0	1	0	0	0	12212	962	34	4	1469	4	PMPCA	9	139317557	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1539887	139317557	1895874	358	62476											
SFMBT2	57713	broad.mit.edu	37	chr10	7218053	7218053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctagcttggcacagactCggcggcagaaatttgcgact	10	9	11	11	3	1	2	0	0	1	2	2	3	1	2	0	3	2	3	0	3	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:7218053C>A	ENST00000361972.4	-	17	1973	c.1883G>T	c.(1882-1884)cGa>cTa	p.R628L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R628L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	628					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGCACAGACTCGGCGGCAGAA	0.453													8	79					3.09899e-07	3.99997e-07	1	0	A	7218053	C	A	7218053	3	1	336	1	0	0	0	0	1	0	0	0	14245	884	31	3	821	3	SFMBT2	10	7218053	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08		7218053	128316694	359	62477											
C10orf111	221060	broad.mit.edu	37	chr10	15138705	15138705	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaggcaactcttactgccTttctcttttcgggctcaaga	8	14	7	12	1	4	1	2	0	2	1	6	1	4	1	1	2	3	2	1	2	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:15138705T>G	ENST00000378207.3	-	2	392	c.119A>C	c.(118-120)aAg>aCg	p.K40T		NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	40						integral to membrane				lung(5)|upper_aerodigestive_tract(1)	6						TCTTACTGCCTTTCTCTTTTC	0.502													14	71					0	0	0	0	G	15138705	T	G	15138705	3	3	336	1	0	0	0	0	1	0	0	0	1593	1609	56	5	352	5	C10orf111	10	15138705	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	7920652	15138705	120396042	360	62478											
CUBN	8029	broad.mit.edu	37	chr10	16911675	16911675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttccagccttttgctgtCtgaaatgaatctgtcttgaa	9	16	7	9	0	4	3	0	3	4	0	5	3	5	3	2	0	2	1	2	0	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:16911675C>T	ENST00000377833.4	-	59	9479	c.9414G>A	c.(9412-9414)caG>caA	p.Q3138Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3138	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTTTGCTGTCTGAAATGAAT	0.433													10	118					0	0	0	0	T	16911675	C	T	16911675	2	4	336	1	0	0	0	0	0	0	0	1	4083	912	32	2		2	CUBN	10	16911675	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1772970	16911675	118623072	361	62479											
MTPAP	55149	broad.mit.edu	37	chr10	30629351	30629351	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacctatgctttcctttTggcaaaattctacgacagca	11	13	7	10	1	1	1	0	1	1	0	2	2	2	1	2	1	4	3	2	1	5	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:30629351T>A	ENST00000358107.4	-	4	748	c.749A>T	c.(748-750)cAa>cTa	p.Q250L	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Missense_Mutation_p.Q120L			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	120					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GCTTTCCTTTTGGCAAAATTC	0.378													5	62					0	0	0	0	A	30629351	T	A	30629351	3	1	336	1	0	0	0	0	1	0	0	0	10026	1812	63	5	1417	5	MTPAP	10	30629351	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	13717676	30629351	104905396	362	62480											
ZNF33A	7581	broad.mit.edu	37	chr10	38344245	38344245	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcctttagccataagtCagccctcacattacaccaga	14	8	6	13	0	2	1	2	0	0	1	2	2	2	1	4	0	4	0	4	0	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:38344245C>A	ENST00000374618.3	+	5	1371	c.1193C>A	c.(1192-1194)tCa>tAa	p.S398*	ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.S404*|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.S397*|ZNF33A_ENST00000458705.2_Nonsense_Mutation_p.S397*	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	397						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGCCATAAGTCAGCCCTCACA	0.423													6	55					8.12818e-05	9.40913e-05	1	0	A	38344245	C	A	38344245	4	1	336	1	0	0	0	0	0	1	0	0	17949	838	29	2	1207	2	ZNF33A	10	38344245	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	7714894	38344245	97190502	363	62481											
ZNF33A	7581	broad.mit.edu	37	chr10	38344913	38344913	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaagccttctaccagAagtcacaactcactcagcat	14	8	7	12	0	4	1	3	0	1	1	4	2	4	2	2	1	4	1	2	1	5	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:38344913A>G	ENST00000374618.3	+	5	2039	c.1861A>G	c.(1861-1863)Aag>Gag	p.K621E	ZNF33A_ENST00000432900.2_Missense_Mutation_p.K627E|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.K620E|ZNF33A_ENST00000458705.2_Missense_Mutation_p.K620E	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	620						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTTCTACCAGAAGTCACAACT	0.358													5	62					0	0	0	0	G	38344913	A	G	38344913	3	3	336	1	0	0	0	0	1	0	0	0	17949	247	9	5	1875	5	ZNF33A	10	38344913	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	668	38344913	97189834	364	62482											
ZNF32	7580	broad.mit.edu	37	chr10	44139772	44139772	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagggcttctcaccactgTgaactctcctgtgaacagca	10	11	8	12	0	2	2	1	2	2	0	4	2	2	2	2	1	3	2	2	1	4	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:44139772T>G	ENST00000395797.1	-	3	736	c.548A>C	c.(547-549)cAc>cCc	p.H183P	ZNF32_ENST00000374433.2_Missense_Mutation_p.H183P|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		CTCACCACTGTGAACTCTCCT	0.483													8	61					0	0	0	0	G	44139772	T	G	44139772	3	3	336	1	0	0	0	0	1	0	0	0	17933	1696	59	5	277	5	ZNF32	10	44139772	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	5794859	44139772	91394975	365	62483											
RBP3	5949	broad.mit.edu	37	chr10	48388265	48388265	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagtgcgcctccggccgtGggctccccaatgaccgtggc	5	6	15	15	4	0	2	0	1	0	1	2	3	2	2	6	3	1	1	6	3	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:48388265G>T	ENST00000224600.4	-	1	2726	c.2613C>A	c.(2611-2613)ccC>ccA	p.P871P		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	871	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTCCGGCCGTGGGCTCCCCAA	0.637													14	29					4.93089e-13	7.35085e-13	1	0	T	48388265	G	T	48388265	2	4	336	1	0	0	0	0	0	0	0	1	13239	1335	47	4		4	RBP3	10	48388265	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	4248493	48388265	87146482	366	62484											
LRRC18	474354	broad.mit.edu	37	chr10	50121750	50121750	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagtaggttgtcatggaGccctacctcgtggagctcct	6	12	12	11	1	2	0	2	0	0	0	4	2	3	2	3	3	3	4	3	3	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:50121750G>T	ENST00000374160.3	-	1	527	c.451C>A	c.(451-453)Ctc>Atc	p.L151I	WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.L151I	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	151						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTGTCATGGAGCCCTACCTCG	0.557													3	21					0.115264	0.117444	1	0	T	50121750	G	T	50121750	3	4	336	1	0	0	0	0	1	0	0	0	9038	971	34	4	342	4	LRRC18	10	50121750	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1733485	50121750	85412997	367	62485											
REEP3	221035	broad.mit.edu	37	chr10	65354573	65354573	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactggattgtttttgctctCtatactgtgattgaaacagt	9	18	8	6	0	1	2	0	2	1	0	2	3	1	3	0	1	4	2	0	1	4	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:65354573C>T	ENST00000373758.4	+	3	324	c.141C>T	c.(139-141)ctC>ctT	p.L47L	REEP3_ENST00000298249.4_Silent_p.L32L	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	47						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTTTGCTCTCTATACTGTGA	0.353													6	46					0	0	0	0	T	65354573	C	T	65354573	2	4	336	1	0	0	0	0	0	0	0	1	13288	900	32	2		2	REEP3	10	65354573	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	15232823	65354573	70180174	368	62486											
LRRTM3	347731	broad.mit.edu	37	chr10	68686993	68686993	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgaaaatgcttttaatGgaatacgcagactcaaagag	16	10	9	6	2	1	3	1	1	0	2	1	5	1	4	0	1	2	2	0	1	6	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:68686993G>T	ENST00000361320.4	+	2	897	c.319G>T	c.(319-321)Gga>Tga	p.G107*	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	107						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGCTTTTAATGGAATACGCAG	0.358													13	114					2.68362e-12	3.94248e-12	1	0	T	68686993	G	T	68686993	4	4	336	1	0	0	0	0	0	1	0	0	9105	1349	47	4	325	4	LRRTM3	10	68686993	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3332420	68686993	66847754	369	62487											
SEC24C	9632	broad.mit.edu	37	chr10	75528771	75528771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtggcctcaggtatccGtgctgtagatttctttggag	6	14	12	9	1	2	1	1	0	1	1	3	2	3	2	3	3	1	3	3	3	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:75528771G>T	ENST00000339365.2	+	18	2447	c.2285G>T	c.(2284-2286)cGt>cTt	p.R762L	SEC24C_ENST00000535742.1_Missense_Mutation_p.R10L|SEC24C_ENST00000540668.1_Missense_Mutation_p.R10L|SEC24C_ENST00000345254.4_Missense_Mutation_p.R762L|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.R643L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	762					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCAGGTATCCGTGCTGTAGAT	0.507													4	29					0.184627	0.186707	1	0	T	75528771	G	T	75528771	3	4	336	1	0	0	0	0	1	0	0	0	14083	1145	40	3	2347	3	SEC24C	10	75528771	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	6841778	75528771	60005976	370	62488											
SFTPD	6441	broad.mit.edu	37	chr10	81706396	81706396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtgagcaggaccagtgcaGagaggaggaagagcagcatg	13	4	18	6	0	0	3	0	1	0	2	0	7	0	6	1	3	4	4	1	3	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:81706396G>A	ENST00000372292.3	-	2	60	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	7					cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GACCAGTGCAGAGAGGAGGAA	0.527													4	22					0	0	0	0	A	81706396	G	A	81706396	3	1	336	1	0	0	0	0	1	0	0	0	14280	942	33	2	1135	2	SFTPD	10	81706396	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	6177625	81706396	53828351	371	62489											
NRG3	10718	broad.mit.edu	37	chr10	83635788	83635788	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctactgcggcatacgctaCctcctcctaccttcacgatt	7	11	6	17	3	1	0	1	0	0	0	3	1	3	0	5	1	5	2	5	1	4	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:83635788C>G	ENST00000404547.1	+	1	692	c.692C>G	c.(691-693)aCc>aGc	p.T231S	NRG3_ENST00000372141.2_Missense_Mutation_p.T231S			P56975	NRG3_HUMAN	neuregulin 3	231	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GCATACGCTACCTCCTCCTAC	0.612													3	22					0	0	0	0	G	83635788	C	G	83635788	3	3	336	1	0	0	0	0	1	0	0	0	10720	507	18	4	694	4	NRG3	10	83635788	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1929392	83635788	51898959	372	62490											
LDB3	11155	broad.mit.edu	37	chr10	88476291	88476291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcggtggcctacagcggggGccctgcggagcctgccagcc	4	5	16	16	3	0	0	0	0	0	0	1	1	0	1	5	5	6	0	5	5	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:88476291G>T	ENST00000429277.2	+	10	1599	c.1454G>T	c.(1453-1455)gGc>gTc	p.G485V	LDB3_ENST00000263066.6_Missense_Mutation_p.G370V|LDB3_ENST00000458213.2_Missense_Mutation_p.G370V|LDB3_ENST00000361373.4_Missense_Mutation_p.G480V|LDB3_ENST00000352360.5_Missense_Mutation_p.G223V	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	480						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TACAGCGGGGGCCCTGCGGAG	0.642													6	72					3.59834e-05	4.23827e-05	1	0	T	88476291	G	T	88476291	3	4	336	1	0	0	0	0	1	0	0	0	8750	1203	42	4	1809	4	LDB3	10	88476291	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	4840503	88476291	47058456	373	62491											
CYP2C19	1557	broad.mit.edu	37	chr10	96541650	96541650	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattacttaaaaaccttgctTttatggaaagtgatattttg	14	17	6	4	0	0	1	0	1	0	0	0	2	0	2	1	1	3	1	1	1	8	8			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:96541650T>C	ENST00000371321.3	+	5	797	c.715T>C	c.(715-717)Ttt>Ctt	p.F239L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	239					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAACCTTGCTTTTATGGAAAG	0.318													8	46					0	0	0	0	C	96541650	T	C	96541650	3	2	336	1	0	0	0	0	1	0	0	0	4198	1841	64	5	733	5	CYP2C19	10	96541650	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	8065359	96541650	38993097	374	62492											
SORBS1	10580	broad.mit.edu	37	chr10	97096645	97096645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcggcagctgcaagaagCtatcttggtggatgcctgaa	10	8	13	10	1	1	2	0	1	1	1	1	3	1	3	2	3	5	4	2	3	4	2	rs117449139	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:97096645C>T	ENST00000371247.2	-	30	3461	c.3272G>A	c.(3271-3273)aGc>aAc	p.S1091N	SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.S1091N|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.S1045N|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000306402.6_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1091					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGCAAGAAGCTATCTTGGTG	0.557													6	55					0	0	0	0	T	97096645	C	T	97096645	3	4	336	1	0	0	0	0	1	0	0	0	15015	797	28	4	686	4	SORBS1	10	97096645	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	554995	97096645	38438102	375	62493											
ZNF518A	9849	broad.mit.edu	37	chr10	97917390	97917390	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aataataaactagcagtttcCcctaactataatgctacgtt	15	13	4	9	1	0	0	0	0	0	0	1	0	1	0	2	0	5	4	2	0	9	9			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:97917390C>T	ENST00000534948.1	+	0	2168							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TAGCAGTTTCCCCTAACTATA	0.368													7	58					0	0	0	0	T	97917390	C	T	97917390	1	4	336	0	1	0	0	0	0	0	0	0	18057	610	22	4		4	ZNF518A	10	97917390	RNA	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	820745	97917390	37617357	376	62494											
SLIT1	6585	broad.mit.edu	37	chr10	98762651	98762651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggtgaagtcctgcagctCgttgttgatgtacaggtttc	6	15	12	8	1	0	2	0	2	0	0	3	2	1	2	1	2	3	6	1	2	2	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:98762651C>T	ENST00000266058.4	-	35	4209	c.3964G>A	c.(3964-3966)Gag>Aag	p.E1322K	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E1322K	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1322	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCTGCAGCTCGTTGTTGATG	0.602													10	162					0	0	0	0	T	98762651	C	T	98762651	3	4	336	1	0	0	0	0	1	0	0	0	14827	893	31	1	652	1	SLIT1	10	98762651	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	845261	98762651	36772096	377	62495											
SORCS1	114815	broad.mit.edu	37	chr10	108378007	108378007	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtaaatctgaaggatatGcttccctccaaggtgatcaa	14	10	9	8	0	2	2	1	2	1	0	4	4	4	3	2	2	1	2	2	2	7	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:108378007G>C	ENST00000263054.6	-	21	2827	c.2820C>G	c.(2818-2820)agC>agG	p.S940R	SORCS1_ENST00000344440.6_Missense_Mutation_p.S940R|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Missense_Mutation_p.S475R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	940						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGAAGGATATGCTTCCCTCCA	0.453													7	45					0	0	0	0	C	108378007	G	C	108378007	3	2	336	1	0	0	0	0	1	0	0	0	15018	1310	46	4	944	4	SORCS1	10	108378007	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	9615356	108378007	27156740	378	62496											
TECTB	6975	broad.mit.edu	37	chr10	114053533	114053533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaagaagctccctttgTcctggaggcatccgaaatcg	12	8	10	11	2	0	2	0	0	0	2	4	4	3	3	3	2	1	2	3	2	4	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:114053533T>C	ENST00000369422.3	+	5	521	c.521T>C	c.(520-522)gTc>gCc	p.V174A		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	174	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GCTCCCTTTGTCCTGGAGGCA	0.433													5	41					0	0	0	0	C	114053533	T	C	114053533	3	2	336	1	0	0	0	0	1	0	0	0	15842	1667	58	5	539	5	TECTB	10	114053533	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	5675526	114053533	21481214	379	62497											
ZRANB1	54764	broad.mit.edu	37	chr10	126655286	126655286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgcctttgatgttggctAtactcttgtacacttggcta	6	18	8	9	0	2	1	0	1	2	0	2	1	2	1	1	2	3	4	1	2	4	9			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:126655286A>G	ENST00000359653.4	+	2	1309	c.938A>G	c.(937-939)tAt>tGt	p.Y313C		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	313					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GATGTTGGCTATACTCTTGTA	0.428													10	81					0	0	0	0	G	126655286	A	G	126655286	3	3	336	1	0	0	0	0	1	0	0	0	18315	449	16	5	944	5	ZRANB1	10	126655286	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	12601753	126655286	8879461	380	62498											
UROS	7390	broad.mit.edu	37	chr10	127505020	127505020	+	Frame_Shift_Del	DEL	C	C	-																															acttaccctgatatacggatCctggccacagtcatcttcct																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:127505020delC	ENST00000368778.3	-	2	242	c.49delG	c.(49-51)atfs	p.D17fs	UROS_ENST00000368786.1_Frame_Shift_Del_p.D17fs|UROS_ENST00000368797.4_Frame_Shift_Del_p.D17fs|UROS_ENST00000368774.1_Frame_Shift_Del_p.D17fs			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	17					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				ATATACGGATCCTGGCCACAG	0.502													7	66	---	---	---	---					-	127505020	C	-	127505020	7	5	336	1	0	1	0	1	0	0	0	0	17126	855	30	0	784	0	UROS	10	127505020	Frame_Shift_Del	DEL	C	TCGA-CV-A45W-01A-11D-A25D-08	849734	127505020	8029727	381	62499											
DHX32	55760	broad.mit.edu	37	chr10	127525408	127525408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attactgaaatagtattgtgGtaccagctgcataaatctgt	13	14	8	6	0	1	1	0	1	1	0	1	1	1	1	1	1	4	4	1	1	7	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:127525408G>A	ENST00000284690.3	-	11	2570	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.P318S|DHX32_ENST00000284688.6_Missense_Mutation_p.P613S	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	694						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TAGTATTGTGGTACCAGCTGC	0.408													4	30					0	0	0	0	A	127525408	G	A	127525408	3	1	336	1	0	0	0	0	1	0	0	0	4542	1261	44	4	155	4	DHX32	10	127525408	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	20388	127525408	8009339	382	62500											
MKI67	4288	broad.mit.edu	37	chr10	129905570	129905570	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttcctgagacttctctTggactgtggcttggagcttg	5	15	11	10	0	1	1	0	1	1	1	3	4	2	3	1	3	1	2	1	3	0	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:129905570T>A	ENST00000368654.3	-	13	4909	c.4534A>T	c.(4534-4536)Aag>Tag	p.K1512*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1152*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1512	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGACTTCTCTTGGACTGTGGC	0.502													41	237					0	0	0	0	A	129905570	T	A	129905570	4	1	336	1	0	0	0	0	0	1	0	0	9667	1821	63	5	5248	5	MKI67	10	129905570	Nonsense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	2380162	129905570	5629177	383	62501											
OR51T1	401665	broad.mit.edu	37	chr11	4903750	4903750	+	Nonsense_Mutation	SNP	C	C	A																															ggactgtttcttcagctctaCctgaatggcactgacgtatt																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:4903750C>A	ENST00000380378.1	+	1	702	c.702C>A	c.(700-702)taC>taA	p.Y234*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Nonsense_Mutation_p.Y207*	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCAGCTCTACCTGAATGGCA	0.443													7	94					0.00198382	0.00216905	1	0	A	4903750	C	A	4903750	4	1	336	1	0	0	0	0	0	1	0	0	11177	518	18	4	704	4	OR51T1	11	4903750	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08		4903750	130102766	384	62502	747	2									
OR51T1	401665	broad.mit.edu	37	chr11	4903751	4903751	+	Missense_Mutation	SNP	C	C	A																															gactgtttcttcagctctacCtgaatggcactgacgtattg																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:4903751C>A	ENST00000380378.1	+	1	703	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.L208M	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAGCTCTACCTGAATGGCAC	0.448													7	93					0.00198382	0.00216905	1	0	A	4903751	C	A	4903751	3	1	336	1	0	0	0	0	1	0	0	0	11177	680	24	4	705	4	OR51T1	11	4903751	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1	4903751	130102765	385	62503	747	2									
OR51B5	282763	broad.mit.edu	37	chr11	5364294	5364294	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggcctgattgggggaacaAcggatacaaatcccctcatc	11	7	12	11	1	1	1	1	1	0	0	3	3	2	3	3	5	3	0	3	5	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:5364294A>C	ENST00000300773.2	-	1	515	c.461T>G	c.(460-462)gTt>gGt	p.V154G	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	154			V -> I (in dbSNP:rs12273630).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGGAACAACGGATACAAA	0.438													6	77					0	0	0	0	C	5364294	A	C	5364294	3	2	336	1	0	0	0	0	1	0	0	0	11162	43	2	5	481	5	OR51B5	11	5364294	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	460543	5364294	129642222	386	62504											
OR51B5	282763	broad.mit.edu	37	chr11	5364327	5364327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctcatcagaactcccagcCcaatcttcactactcgagta	11	9	4	17	1	4	1	3	0	1	1	6	2	5	1	3	0	3	1	3	0	4	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:5364327C>A	ENST00000300773.2	-	1	482	c.428G>T	c.(427-429)gGg>gTg	p.G143V	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G143E(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTCCCAGCCCAATCTTCAC	0.448													6	73					3.59834e-05	4.23827e-05	1	0	A	5364327	C	A	5364327	3	1	336	1	0	0	0	0	1	0	0	0	11162	623	22	4	514	4	OR51B5	11	5364327	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	33	5364327	129642189	387	62505											
UBQLNL	143630	broad.mit.edu	37	chr11	5537461	5537461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacccatgaagaccagcaCtagttggtccatctggcatt	11	9	9	12	0	1	2	0	1	1	1	2	2	2	2	3	2	2	4	3	2	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:5537461C>A	ENST00000380184.1	-	1	474	c.211G>T	c.(211-213)Gtg>Ttg	p.V71L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	71	Ubiquitin-like.							p.V71L(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AAGACCAGCACTAGTTGGTCC	0.498													5	69					0.000602214	0.000673014	1	0	A	5537461	C	A	5537461	3	1	336	1	0	0	0	0	1	0	0	0	16996	565	20	4	1220	4	UBQLNL	11	5537461	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	173134	5537461	129469055	388	62506											
TRIM3	10612	broad.mit.edu	37	chr11	6477633	6477633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctggcgcacatggctgccGgggccgccaggggacttgac	5	7	16	13	3	1	1	0	1	1	0	1	2	1	2	3	6	1	2	3	6	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:6477633G>A	ENST00000525074.1	-	6	1717	c.1323C>T	c.(1321-1323)ccC>ccT	p.P441P	TRIM3_ENST00000536344.1_Silent_p.P322P|TRIM3_ENST00000537602.1_Silent_p.P363P|TRIM3_ENST00000345851.3_Silent_p.P441P|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000359518.3_Silent_p.P441P	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	441					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGCTGCCGGGGCCGCCAG	0.667													6	36					0	0	0	0	A	6477633	G	A	6477633	2	1	336	1	0	0	0	0	0	0	0	1	16599	1103	39	1		1	TRIM3	11	6477633	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	940172	6477633	128528883	389	62507											
DCHS1	8642	broad.mit.edu	37	chr11	6661321	6661321	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggggctaggctataagtGacctgaccattggtgccttg	8	10	13	10	0	0	2	0	2	0	0	0	2	0	2	4	4	1	2	4	4	3	5	rs140183045	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:6661321G>A	ENST00000299441.3	-	2	1935	c.1524C>T	c.(1522-1524)gtC>gtT	p.V508V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	508	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTATAAGTGACCTGACCAT	0.592													6	25					0	0	0	0	A	6661321	G	A	6661321	2	1	336	1	0	0	0	0	0	0	0	1	4319	1277	45	2		2	DCHS1	11	6661321	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	183688	6661321	128345195	390	62508											
OR2AG1	144125	broad.mit.edu	37	chr11	6806472	6806472	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgggcagctctctctCatggacctcctgttcacatc	5	13	8	15	0	3	0	2	0	2	0	7	1	4	1	2	2	2	4	2	2	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:6806472C>A	ENST00000307401.4	+	1	225	c.204C>A	c.(202-204)ctC>ctA	p.L68L		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCTCTCTCTCATGGACCTCC	0.557													16	143					1.15088e-07	1.50471e-07	1	0	A	6806472	C	A	6806472	2	1	336	1	0	0	0	0	0	0	0	1	11055	813	29	2		2	OR2AG1	11	6806472	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	145151	6806472	128200044	391	62509											
STK33	65975	broad.mit.edu	37	chr11	8494769	8494769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttccttctgtaaagttgcCccgaccccattgttgctgag	6	15	8	12	1	1	1	0	1	1	0	2	2	2	1	5	0	2	4	5	0	2	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:8494769C>A	ENST00000447869.1	-	2	1198	c.280G>T	c.(280-282)Ggc>Tgc	p.G94C	STK33_ENST00000315204.1_Missense_Mutation_p.G94C|STK33_ENST00000396673.1_Missense_Mutation_p.G94C|STK33_ENST00000396672.1_Missense_Mutation_p.G94C|STK33_ENST00000358872.3_Intron|STK33_ENST00000534493.1_Missense_Mutation_p.G53C			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	94						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GTAAAGTTGCCCCGACCCCAT	0.368													12	112					9.31168e-06	1.13653e-05	1	0	A	8494769	C	A	8494769	3	1	336	1	0	0	0	0	1	0	0	0	15390	623	22	4	1308	4	STK33	11	8494769	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1688297	8494769	126511747	392	62510											
COPB1	1315	broad.mit.edu	37	chr11	14502569	14502569	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagaagagacaagatccagTgctaactgcagagttttctt	13	11	9	8	0	1	4	0	0	1	4	2	5	2	4	1	0	3	3	1	0	4	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:14502569T>G	ENST00000249923.3	-	9	1332	c.1032A>C	c.(1030-1032)gcA>gcC	p.A344A	COPB1_ENST00000439561.2_Silent_p.A344A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	344					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAAGATCCAGTGCTAACTGCA	0.363													7	105					0	0	0	0	G	14502569	T	G	14502569	2	3	336	1	0	0	0	0	0	0	0	1	3758	1683	59	5		5	COPB1	11	14502569	Silent	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	6007800	14502569	120503947	393	62511											
PSMA1	5682	broad.mit.edu	37	chr11	14539270	14539270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaatttttttctgatgagCtgcaagctctgattgcgccc	8	14	10	9	1	2	4	0	3	2	1	2	5	2	4	1	0	4	3	1	0	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:14539270C>A	ENST00000530457.1	-	4	627	c.97G>T	c.(97-99)Gct>Tct	p.A33S	PSMA1_ENST00000555531.1_Missense_Mutation_p.A58S|PSMA1_ENST00000396393.1_Missense_Mutation_p.A58S|PSMA1_ENST00000418988.2_Missense_Mutation_p.A64S|PSMA1_ENST00000419365.2_Missense_Mutation_p.A58S|PSMA1_ENST00000396394.2_Missense_Mutation_p.A58S			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	58					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TTCTGATGAGCTGCAAGCTCT	0.323													4	50					0.00024832	0.000283794	1	0	A	14539270	C	A	14539270	3	1	336	1	0	0	0	0	1	0	0	0	12745	797	28	4	697	4	PSMA1	11	14539270	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	36701	14539270	120467246	394	62512											
TMEM86A	144110	broad.mit.edu	37	chr11	18723412	18723412	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatctcagacctgaccatCgccctcaacaaattctgttt	11	12	4	14	1	4	2	3	1	2	1	6	2	4	2	3	0	1	1	3	0	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:18723412C>T	ENST00000280734.2	+	3	675	c.579C>T	c.(577-579)atC>atT	p.I193I		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	193						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						ACCTGACCATCGCCCTCAACA	0.577													6	91					0	0	0	0	T	18723412	C	T	18723412	2	4	336	1	0	0	0	0	0	0	0	1	16302	874	31	1		1	TMEM86A	11	18723412	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	4184142	18723412	116283104	395	62513											
PTPN5	84867	broad.mit.edu	37	chr11	18765618	18765618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggagtggctcccagcgcCtcgaggtggtggcttctgag	5	8	18	10	2	1	1	0	1	1	0	3	4	2	2	2	5	1	2	2	5	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:18765618C>A	ENST00000396170.1	-	4	1490	c.226G>T	c.(226-228)Ggc>Tgc	p.G76C	PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000358540.2_Missense_Mutation_p.G76C|PTPN5_ENST00000396168.1_Missense_Mutation_p.G52C|PTPN5_ENST00000396167.2_Missense_Mutation_p.G76C|PTPN5_ENST00000396171.4_Missense_Mutation_p.G76C	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	76						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CTCCCAGCGCCTCGAGGTGGT	0.637													18	152					3.32936e-07	4.28363e-07	1	0	A	18765618	C	A	18765618	3	1	336	1	0	0	0	0	1	0	0	0	12873	681	24	4	1519	4	PTPN5	11	18765618	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	42206	18765618	116240898	396	62514											
ANO5	203859	broad.mit.edu	37	chr11	22249073	22249073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattcagcagacatcggcagGagctcttcctcatcgaagat	12	9	9	11	2	3	2	2	0	1	2	6	4	4	3	1	2	2	3	1	2	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:22249073G>A	ENST00000324559.8	+	7	906	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	197						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACATCGGCAGGAGCTCTTCCT	0.453													9	100					0	0	0	0	A	22249073	G	A	22249073	3	1	336	1	0	0	0	0	1	0	0	0	699	1175	41	2	615	2	ANO5	11	22249073	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3483455	22249073	112757443	397	62515											
C11orf74	119710	broad.mit.edu	37	chr11	36680588	36680588	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacttggagatgaagttcAacttttttcacttgatgaag	12	15	9	5	0	2	4	2	3	0	1	2	6	2	4	0	1	2	1	0	1	4	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:36680588A>T	ENST00000334307.5	+	6	633	c.518A>T	c.(517-519)cAa>cTa	p.Q173L	C11orf74_ENST00000347206.4_Missense_Mutation_p.Q99L|C11orf74_ENST00000446510.2_Intron|C11orf74_ENST00000534635.1_Missense_Mutation_p.Q99L	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	173										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				GATGAAGTTCAACTTTTTTCA	0.323													5	24					0	0	0	0	T	36680588	A	T	36680588	3	4	336	1	0	0	0	0	1	0	0	0	1673	130	5	5	536	5	C11orf74	11	36680588	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	14431515	36680588	98325928	398	62516											
LRRC4C	57689	broad.mit.edu	37	chr11	40137716	40137716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagggcaggtctgagcccGcaccagaccagccaccacaa	13	2	11	15	1	1	3	0	1	1	2	1	3	1	3	5	2	2	2	5	2	2	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:40137716G>A	ENST00000278198.2	-	2	2090	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R43W|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R43W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R43W			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	43					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTCTGAGCCCGCACCAGACCA	0.542													7	32					0	0	0	0	A	40137716	G	A	40137716	3	1	336	1	0	0	0	0	1	0	0	0	9072	1086	38	1	1799	1	LRRC4C	11	40137716	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3457128	40137716	94868800	399	62517											
PACSIN3	29763	broad.mit.edu	37	chr11	47200530	47200530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaacctcatcagggctccGgccacccttctctttccggc	5	10	9	17	2	3	0	2	0	1	0	6	0	5	0	5	4	1	2	5	4	1	3	rs113148315		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:47200530G>A	ENST00000539589.1	-	9	1294	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	PACSIN3_ENST00000298838.6_Missense_Mutation_p.R318W	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	318					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						TCAGGGCTCCGGCCACCCTTC	0.612													22	108					0	0	0	0	A	47200530	G	A	47200530	3	1	336	1	0	0	0	0	1	0	0	0	11447	1115	39	1	334	1	PACSIN3	11	47200530	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	7062814	47200530	87805986	400	62518											
AGBL2	79841	broad.mit.edu	37	chr11	47712256	47712256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaagagtggcttcatccCtacagtataaagactcttgg	12	11	9	9	0	2	2	1	0	1	2	3	2	3	2	1	2	2	3	1	2	6	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:47712256C>A	ENST00000525123.1	-	10	1288	c.1003G>T	c.(1003-1005)Ggg>Tgg	p.G335W	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.G335W|AGBL2_ENST00000528244.1_Missense_Mutation_p.G297W|AGBL2_ENST00000298861.4_Missense_Mutation_p.G335W	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	335					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GGCTTCATCCCTACAGTATAA	0.428													22	134					7.33532e-06	8.99384e-06	1	0	A	47712256	C	A	47712256	3	1	336	1	0	0	0	0	1	0	0	0	376	681	24	4	1745	4	AGBL2	11	47712256	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	511726	47712256	87294260	401	62519											
FNBP4	23360	broad.mit.edu	37	chr11	47786823	47786823	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaaacaaaagcataccTgttgctttaacagctgtggg	16	9	8	8	0	0	0	0	0	0	0	0	0	0	0	1	1	7	4	1	1	7	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:47786823T>C	ENST00000263773.5	-	2	324	c.313_splice	c.e2+1	p.T104_splice	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	104										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AAAGCATACCTGTTGCTTTAA	0.393													27	199					0	0	0	0	C	47786823	T	C	47786823	5	2	336	1	0	0	0	0	0	0	1	0	6012	1594	55	5	2805	5	FNBP4	11	47786823	Splice_Site	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	74567	47786823	87219693	402	62520											
OR5F1	338674	broad.mit.edu	37	chr11	55761194	55761194	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttttcctgctaattacaTtcgctaaagccttctttact	8	18	3	12	1	1	0	0	0	1	0	4	0	3	0	3	0	4	2	3	0	5	9			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:55761194T>A	ENST00000278409.1	-	1	907	c.908A>T	c.(907-909)aAt>aTt	p.N303I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GCTAATTACATTCGCTAAAGC	0.383													4	44					0	0	0	0	A	55761194	T	A	55761194	3	1	336	1	0	0	0	0	1	0	0	0	11229	1493	52	5	39	5	OR5F1	11	55761194	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	7974371	55761194	79245322	403	62521											
OR5F1	338674	broad.mit.edu	37	chr11	55761531	55761531	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttctttcaggattgtgtCagaacaagagagcttgaaaa	13	12	10	6	0	3	3	2	1	1	2	3	5	3	4	0	1	2	2	0	1	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:55761531C>A	ENST00000278409.1	-	1	570	c.571G>T	c.(571-573)Gac>Tac	p.D191Y		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGGATTGTGTCAGAACAAGAG	0.458													13	65					7.03913e-09	9.65639e-09	1	0	A	55761531	C	A	55761531	3	1	336	1	0	0	0	0	1	0	0	0	11229	826	29	2	376	2	OR5F1	11	55761531	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	337	55761531	79244985	404	62522											
OR8H3	390152	broad.mit.edu	37	chr11	55890519	55890519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctatgtgtccattctctctaCcatcctgaaaattaattcca	11	15	3	12	0	2	1	0	1	2	0	6	1	5	1	4	0	1	0	4	0	5	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:55890519C>A	ENST00000313472.3	+	1	671	c.671C>A	c.(670-672)aCc>aAc	p.T224N		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATTCTCTCTACCATCCTGAAA	0.413													13	142					4.14922e-12	6.07349e-12	1	0	A	55890519	C	A	55890519	3	1	336	1	0	0	0	0	1	0	0	0	11310	507	18	4	673	4	OR8H3	11	55890519	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	128988	55890519	79115997	405	62523											
OR5J2	282775	broad.mit.edu	37	chr11	55944461	55944461	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgatggcctatgaccgctAtgtggccattgtgagtccct	7	12	12	10	1	0	3	0	3	0	0	1	3	1	3	4	2	0	1	4	2	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:55944461A>C	ENST00000312298.1	+	1	368	c.368A>C	c.(367-369)tAt>tCt	p.Y123S		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TATGACCGCTATGTGGCCATT	0.453													15	100					0	0	0	0	C	55944461	A	C	55944461	3	2	336	1	0	0	0	0	1	0	0	0	11236	449	16	5	370	5	OR5J2	11	55944461	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	53942	55944461	79062055	406	62524											
OR5B12	390191	broad.mit.edu	37	chr11	58207293	58207293	+	Frame_Shift_Del	DEL	A	A	-																															aggccattgatgccaggaggAaactttctgcagtgataaag																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:58207293delA	ENST00000302572.2	-	1	353	c.332delT	c.(331-333)tcfs	p.F111fs		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCCAGGAGGAAACTTTCTGC	0.438													22	93	---	---	---	---					-	58207293	A	-	58207293	7	5	336	1	0	1	0	1	0	0	0	0	11219	246	9	0	616	0	OR5B12	11	58207293	Frame_Shift_Del	DEL	A	TCGA-CV-A45W-01A-11D-A25D-08	2262832	58207293	76799223	407	62525											
OR4D6	219983	broad.mit.edu	37	chr11	59224983	59224983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctactgttatgtgctccagGtggtaaaactggcctgcact	8	13	10	10	0	1	0	0	0	1	0	2	0	2	0	2	3	4	4	2	3	4	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:59224983G>T	ENST00000300127.2	+	1	573	c.550G>T	c.(550-552)Gtg>Ttg	p.V184L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGTGCTCCAGGTGGTAAAACT	0.512													18	135					9.16793e-09	1.24709e-08	1	0	T	59224983	G	T	59224983	3	4	336	1	0	0	0	0	1	0	0	0	11129	1261	44	4	552	4	OR4D6	11	59224983	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1017690	59224983	75781533	408	62526											
TCN1	6947	broad.mit.edu	37	chr11	59620758	59620758	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataggccctgaatacaggtGatatagggcccccatgagcg	11	7	12	11	1	0	3	0	3	0	0	0	3	0	3	3	3	2	0	3	3	5	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:59620758G>C	ENST00000257264.3	-	8	1262	c.1158C>G	c.(1156-1158)atC>atG	p.I386M		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	386					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATACAGGTGATATAGGGCC	0.488													17	150					0	0	0	0	C	59620758	G	C	59620758	3	2	336	1	0	0	0	0	1	0	0	0	15800	1280	45	2	151	2	TCN1	11	59620758	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	395775	59620758	75385758	409	62527											
MS4A13	503497	broad.mit.edu	37	chr11	60292741	60292741	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaattactgcagtaactcTaacaataatagagttgtctc	15	13	5	8	0	2	1	0	0	2	1	3	1	2	1	0	0	5	3	0	0	8	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:60292741T>A	ENST00000378186.2	+	5	571	c.248T>A	c.(247-249)cTa>cAa	p.L83Q	MS4A13_ENST00000527948.1_Intron|MS4A13_ENST00000437058.2_Intron|MS4A13_ENST00000378185.2_Intron	NM_001012417.2	NP_001012417.2	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	83						integral to membrane				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						GCAGTAACTCTAACAATAATA	0.284													7	32					0	0	0	0	A	60292741	T	A	60292741	3	1	336	1	0	0	0	0	1	0	0	0	9927	1522	53	5	258	5	MS4A13	11	60292741	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	671983	60292741	74713775	410	62528											
ASRGL1	80150	broad.mit.edu	37	chr11	62124476	62124476	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagacacctcattgctttctGactgaccaaggcgcagcgca	10	8	9	14	2	2	3	1	2	1	1	2	3	2	3	2	1	2	3	2	1	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:62124476G>A	ENST00000415229.2	+	4	566	c.351G>A	c.(349-351)ctG>ctA	p.L117L	ASRGL1_ENST00000301776.5_Silent_p.L117L|ASRGL1_ENST00000535727.1_5'UTR	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	117					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	ATTGCTTTCTGACTGACCAAG	0.398													8	75					0	0	0	0	A	62124476	G	A	62124476	2	1	336	1	0	0	0	0	0	0	0	1	1064	1277	45	2		2	ASRGL1	11	62124476	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1831735	62124476	72882040	411	62529											
GPR137	56834	broad.mit.edu	37	chr11	64054205	64054205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccctctgtctgctctgggCcgccttgcgtaccaccctct	2	11	10	18	2	4	0	0	0	4	0	4	0	4	0	5	2	3	2	5	2	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:64054205C>A	ENST00000539851.1	+	2	676	c.209C>A	c.(208-210)gCc>gAc	p.A70D	GPR137_ENST00000377702.4_Missense_Mutation_p.A70D|GPR137_ENST00000411458.1_Missense_Mutation_p.A128D|GPR137_ENST00000438980.2_Missense_Mutation_p.A70D|GPR137_ENST00000313074.3_Missense_Mutation_p.A70D	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	70						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CTGCTCTGGGCCGCCTTGCGT	0.612													39	215					2.05212e-20	3.18256e-20	1	0	A	64054205	C	A	64054205	3	1	336	1	0	0	0	0	1	0	0	0	6694	739	26	4	393	4	GPR137	11	64054205	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1929729	64054205	70952311	412	62530											
KCNK4	50801	broad.mit.edu	37	chr11	64067024	64067024	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccccgcccacggcctcggcCctggattatcccagcgagaa	7	6	10	18	4	0	1	0	0	0	1	3	3	2	2	6	3	1	0	6	3	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:64067024C>A	ENST00000538767.1	+	6	913	c.661C>A	c.(661-663)Cct>Act	p.P221T	KCNK4_ENST00000422670.2_Silent_p.A336A|KCNK4_ENST00000394525.2_Silent_p.A336A|KCNK4_ENST00000539216.1_Silent_p.A336A|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	316						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CGGCCTCGGCCCTGGATTATC	0.736													10	60					2.80697e-09	3.89028e-09	1	0	A	64067024	C	A	64067024	3	1	336	1	0	0	0	0	1	0	0	0	8121	610	22	4	1030	4	KCNK4	11	64067024	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	12819	64067024	70939492	413	62531											
CDC42BPG	55561	broad.mit.edu	37	chr11	64597448	64597448	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagggcaaagagacgcacGctggggccgcggccacacag	10	1	16	14	4	0	1	0	0	0	1	0	2	0	1	3	4	0	3	3	4	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:64597448G>A	ENST00000342711.5	-	30	3461	c.3462C>T	c.(3460-3462)agC>agT	p.S1154S		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1154	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGAGACGCACGCTGGGGCCGC	0.662													5	61					0	0	0	0	A	64597448	G	A	64597448	2	1	336	1	0	0	0	0	0	0	0	1	3103	1078	38	1		1	CDC42BPG	11	64597448	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	530424	64597448	70409068	414	62532											
MAP3K11	4296	broad.mit.edu	37	chr11	65367018	65367019	+	Frame_Shift_Del	DEL	GC	GC	-																															gggcggctcggtcgggcaggGcgcgggcgttggcgtggggg																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:65367018_65367019delGC	ENST00000309100.3	-	9	2537_2538	c.2052_2053delGC	c.(2050-2055)gcccfs	p.AP684fs	MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.AP427fs|MAP3K11_ENST00000534432.1_5'UTR|MAP3K11_ENST00000532507.1_Frame_Shift_Del_p.AP100fs	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	684	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GTCGGGCAGGGCGCGGGCGTTG	0.738													13	67	---	---	---	---					-	65367019	GC	-	65367018	7	5	336	1	0	1	0	1	0	0	0	0	9314	1203	42	0	498	0	MAP3K11	11	65367018	Frame_Shift_Del	DEL	GC	TCGA-CV-A45W-01A-11D-A25D-08	769570	65367018	69639498	415	62533											
PC	5091	broad.mit.edu	37	chr11	66639214	66639214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgcacgggggccaggcCgcggccgatgagataggctt	6	5	18	12	4	0	1	0	1	0	1	0	3	0	1	4	6	1	2	4	6	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:66639214C>A	ENST00000393960.1	-	5	546	c.265G>T	c.(265-267)Ggc>Tgc	p.G89C	PC_ENST00000393958.2_Missense_Mutation_p.G89C|PC_ENST00000355677.3_Missense_Mutation_p.G89C|PC_ENST00000524491.1_Missense_Mutation_p.G49C|PC_ENST00000393955.2_Missense_Mutation_p.G89C	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	89	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGGGCCAGGCCGCGGCCGATG	0.652													4	12					0.00024832	0.000283794	1	0	A	66639214	C	A	66639214	3	1	336	1	0	0	0	0	1	0	0	0	11568	652	23	3	3347	3	PC	11	66639214	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1272196	66639214	68367302	416	62534											
ALDH3B2	222	broad.mit.edu	37	chr11	67431900	67431900	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagaaggcgtacagggccagGggcttctcctgccggttgat	7	8	16	10	2	1	2	0	1	1	1	2	3	1	2	3	5	2	3	3	5	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:67431900G>A	ENST00000349015.3	-	8	1278	c.840C>T	c.(838-840)ccC>ccT	p.P280P	ALDH3B2_ENST00000530069.1_Silent_p.P280P	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	280					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	ACAGGGCCAGGGGCTTCTCCT	0.627													19	142					0	0	0	0	A	67431900	G	A	67431900	2	1	336	1	0	0	0	0	0	0	0	1	500	1219	43	4		4	ALDH3B2	11	67431900	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	792686	67431900	67574616	417	62535											
C2CD3	26005	broad.mit.edu	37	chr11	73849780	73849780	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacctgaaagaagatcctTggtagggaggttgtttgaag	12	11	13	5	0	0	4	0	2	0	2	1	5	1	5	2	3	1	3	2	3	5	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:73849780T>C	ENST00000334126.7	-	5	1166	c.940A>G	c.(940-942)Aag>Gag	p.K314E	C2CD3_ENST00000313663.7_Missense_Mutation_p.K314E|C2CD3_ENST00000539061.1_Missense_Mutation_p.K314E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	314						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGAAGATCCTTGGTAGGGAGG	0.418													11	172					0	0	0	0	C	73849780	T	C	73849780	3	2	336	1	0	0	0	0	1	0	0	0	2174	1821	63	5	5059	5	C2CD3	11	73849780	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	6417880	73849780	61156736	418	62536											
C11orf30	56946	broad.mit.edu	37	chr11	76257309	76257309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatgtaggccaaaagaaaGctgaagagagtccagcagaa	19	4	12	6	0	0	5	0	1	0	4	1	6	1	5	2	1	2	3	2	1	7	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:76257309G>A	ENST00000529032.1	+	19	3742	c.3742G>A	c.(3742-3744)Gct>Act	p.A1248T	C11orf30_ENST00000334736.3_Missense_Mutation_p.A1248T|C11orf30_ENST00000533248.1_Missense_Mutation_p.A1157T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A1150T|C11orf30_ENST00000524767.1_Missense_Mutation_p.A1263T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A1249T|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525038.1_Missense_Mutation_p.A1249T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1248					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CCAAAAGAAAGCTGAAGAGAG	0.438													14	91					0	0	0	0	A	76257309	G	A	76257309	3	1	336	1	0	0	0	0	1	0	0	0	1647	971	34	4	3816	4	C11orf30	11	76257309	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2407529	76257309	58749207	419	62537											
FAT3	120114	broad.mit.edu	37	chr11	92531674	92531674	+	Missense_Mutation	SNP	C	C	A																															ggtggactccagtacaggtgCaatcagaacaattgccaacc																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:92531674C>A	ENST00000298047.6	+	9	5512	c.5495C>A	c.(5494-5496)gCa>gAa	p.A1832E	FAT3_ENST00000409404.2_Missense_Mutation_p.A1832E|FAT3_ENST00000525166.1_Missense_Mutation_p.A1682E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1832	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTACAGGTGCAATCAGAACA	0.483										TCGA Ovarian(4;0.039)			9	30					5.4927e-09	7.57356e-09	1	0	A	92531674	C	A	92531674	3	1	336	1	0	0	0	0	1	0	0	0	5736	710	25	4	5529	4	FAT3	11	92531674	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	16274365	92531674	42474842	420	62538	748	2									
FAT3	120114	broad.mit.edu	37	chr11	92531676	92531676	+	Missense_Mutation	SNP	A	A	T																															tggactccagtacaggtgcaAtcagaacaattgccaacctg																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:92531676A>T	ENST00000298047.6	+	9	5514	c.5497A>T	c.(5497-5499)Atc>Ttc	p.I1833F	FAT3_ENST00000409404.2_Missense_Mutation_p.I1833F|FAT3_ENST00000525166.1_Missense_Mutation_p.I1683F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1833	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACAGGTGCAATCAGAACAAT	0.483										TCGA Ovarian(4;0.039)			9	31					0	0	0	0	T	92531676	A	T	92531676	3	4	336	1	0	0	0	0	1	0	0	0	5736	101	4	5	5531	5	FAT3	11	92531676	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	2	92531676	42474840	421	62539	748	2									
FAT3	120114	broad.mit.edu	37	chr11	92533905	92533905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatttttgtgagggcccttGatggtggagggagaacaact	9	12	15	5	0	0	3	0	2	0	1	0	5	0	4	1	4	2	1	1	4	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:92533905G>A	ENST00000298047.6	+	9	7743	c.7726G>A	c.(7726-7728)Gat>Aat	p.D2576N	FAT3_ENST00000409404.2_Missense_Mutation_p.D2576N|FAT3_ENST00000525166.1_Missense_Mutation_p.D2426N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2576	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGGGCCCTTGATGGTGGAGG	0.473										TCGA Ovarian(4;0.039)			11	44					0	0	0	0	A	92533905	G	A	92533905	3	1	336	1	0	0	0	0	1	0	0	0	5736	1290	45	2	7760	2	FAT3	11	92533905	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2229	92533905	42472611	422	62540											
CWF19L2	143884	broad.mit.edu	37	chr11	107263575	107263575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttcacaggccatactcttCcagactgatctgttctgaca	9	13	7	12	0	4	3	1	2	3	1	5	3	5	3	2	1	1	2	2	1	1	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:107263575C>A	ENST00000282251.5	-	11	1691	c.1664G>T	c.(1663-1665)gGa>gTa	p.G555V	CWF19L2_ENST00000433523.1_Missense_Mutation_p.G555V	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	555							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CCATACTCTTCCAGACTGATC	0.348													7	37					5.18039e-06	6.40024e-06	1	0	A	107263575	C	A	107263575	3	1	336	1	0	0	0	0	1	0	0	0	4104	855	30	2	1052	2	CWF19L2	11	107263575	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	14729670	107263575	27742941	423	62541											
ZBTB16	7704	broad.mit.edu	37	chr11	113934906	113934906	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaccagtgctagggagcTacactatgggcgagaggaga	12	6	14	9	1	1	2	1	0	0	2	1	5	1	3	1	3	3	2	1	3	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:113934906T>A	ENST00000335953.4	+	2	1264	c.884T>A	c.(883-885)cTa>cAa	p.L295Q	ZBTB16_ENST00000392996.2_Missense_Mutation_p.L295Q	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	295					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GCTAGGGAGCTACACTATGGG	0.657													11	36					0	0	0	0	A	113934906	T	A	113934906	3	1	336	1	0	0	0	0	1	0	0	0	17621	1522	53	5	886	5	ZBTB16	11	113934906	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	6671331	113934906	21071610	424	62542											
ZNF202	7753	broad.mit.edu	37	chr11	123596941	123596941	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgggtgaagcagcgccCgcactcgctgcagaggtaga	8	6	16	11	3	0	3	0	1	0	2	1	3	0	3	1	2	3	6	1	2	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:123596941C>A	ENST00000336139.4	-	8	2073	c.1711G>T	c.(1711-1713)Ggg>Tgg	p.G571W	ZNF202_ENST00000529691.1_Missense_Mutation_p.G571W|ZNF202_ENST00000530393.1_Missense_Mutation_p.G571W			O95125	ZN202_HUMAN	zinc finger protein 202	571					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		AAGCAGCGCCCGCACTCGCTG	0.612													10	61					0.000442599	0.000500168	1	0	A	123596941	C	A	123596941	3	1	336	1	0	0	0	0	1	0	0	0	17858	652	23	3	239	3	ZNF202	11	123596941	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	9662035	123596941	11409575	425	62543											
CCDC15	80071	broad.mit.edu	37	chr11	124845049	124845049	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcctttaaaaccgtgattAaaaaaaagggatcagtgttt	16	12	7	6	1	1	1	1	1	0	0	2	2	2	2	2	1	1	1	2	1	6	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:124845049A>T	ENST00000529051.1	+	5	833	c.574A>T	c.(574-576)Aaa>Taa	p.K192*	CCDC15_ENST00000344762.5_Nonsense_Mutation_p.K192*			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	192						centrosome		p.K194fs*29(5)|p.S196fs*6(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AACCGTGATTAAAAAAAAGGG	0.373													3	17					0	0	0	0	T	124845049	A	T	124845049	4	4	336	1	0	0	0	0	0	1	0	0	2809	363	13	5	588	5	CCDC15	11	124845049	Nonsense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	1248108	124845049	10161467	426	62544											
PATE2	399967	broad.mit.edu	37	chr11	125647292	125647292	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagaactaaactccctcaggGaggttgcagtagttactatg	12	11	10	8	0	1	1	1	0	0	1	2	2	2	2	1	2	4	4	1	2	7	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:125647292G>A	ENST00000358524.3	-	4	372	c.327C>T	c.(325-327)ctC>ctT	p.L109L	PATE2_ENST00000436890.2_Silent_p.L66L	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	109						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						CTCCCTCAGGGAGGTTGCAGT	0.458													11	52					0	0	0	0	A	125647292	G	A	125647292	2	1	336	1	0	0	0	0	0	0	0	1	11545	1161	41	2		2	PATE2	11	125647292	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	802243	125647292	9359224	427	62545											
ARHGAP32	9743	broad.mit.edu	37	chr11	128851369	128851369	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagcacatcaacgtgattCaggatgaactcaacaaccac	17	6	6	12	1	3	2	3	2	0	0	3	3	3	3	1	1	6	1	1	1	5	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:128851369C>T	ENST00000310343.9	-	16	1679	c.1680G>A	c.(1678-1680)ctG>ctA	p.L560L	ARHGAP32_ENST00000392657.3_Silent_p.L211L|ARHGAP32_ENST00000524655.1_Silent_p.L486L|ARHGAP32_ENST00000527272.1_Silent_p.L211L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	560	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAACGTGATTCAGGATGAACT	0.512													18	74					0	0	0	0	T	128851369	C	T	128851369	2	4	336	1	0	0	0	0	0	0	0	1	883	813	29	2		2	ARHGAP32	11	128851369	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	3204077	128851369	6155147	428	62546											
SLC6A12	6539	broad.mit.edu	37	chr12	319115	319115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggacccaggagactgcaGgaggcccacactcttgcact	9	5	13	14	1	1	1	0	0	1	1	1	4	1	3	2	5	2	2	2	5	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:319115G>A	ENST00000428720.1	-	3	781	c.38C>T	c.(37-39)cCt>cTt	p.P13L	SLC6A12_ENST00000424061.2_Missense_Mutation_p.P13L|SLC6A12_ENST00000536824.1_Missense_Mutation_p.P13L|SLC6A12_ENST00000397296.2_Missense_Mutation_p.P13L|SLC6A12_ENST00000359674.4_Missense_Mutation_p.P13L	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	13					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGAGACTGCAGGAGGCCCACA	0.622													10	65					0	0	0	0	A	319115	G	A	319115	3	1	336	1	0	0	0	0	1	0	0	0	14763	1000	35	4	1862	4	SLC6A12	12	319115	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08		319115	133532780	429	62547											
WNK1	65125	broad.mit.edu	37	chr12	1005293	1005293	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaataagtcagaagatgcAaagtctgttcattttgaatc	17	12	7	5	0	3	3	2	1	1	2	4	3	3	3	0	0	1	2	0	0	6	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:1005293A>G	ENST00000537687.1	+	24	7063	c.6420A>G	c.(6418-6420)gcA>gcG	p.A2140A	WNK1_ENST00000340908.4_Silent_p.A1473A|WNK1_ENST00000530271.2_Silent_p.A2378A|WNK1_ENST00000315939.6_Silent_p.A1880A|WNK1_ENST00000535572.1_Silent_p.A1632A	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1880					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAGAAGATGCAAAGTCTGTTC	0.413													6	64					0	0	0	0	G	1005293	A	G	1005293	2	3	336	1	0	0	0	0	0	0	0	1	17473	117	5	5		5	WNK1	12	1005293	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	686178	1005293	132846602	430	62548											
AKAP3	10566	broad.mit.edu	37	chr12	4736094	4736094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtggccatctatctggctGacagccatcttggtcagccc	7	11	10	13	0	4	1	1	1	3	0	4	1	4	1	3	3	2	1	3	3	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:4736094G>A	ENST00000545990.2	-	5	2498	c.1974C>T	c.(1972-1974)gtC>gtT	p.V658V	AKAP3_ENST00000228850.1_Silent_p.V658V	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	658					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTATCTGGCTGACAGCCATCT	0.507													5	63					0	0	0	0	A	4736094	G	A	4736094	2	1	336	1	0	0	0	0	0	0	0	1	452	1277	45	2		2	AKAP3	12	4736094	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3730801	4736094	129115801	431	62549											
AKAP3	10566	broad.mit.edu	37	chr12	4737172	4737172	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcttcagtgtcttcatgatgGagaccatcatatcagatacc	11	13	7	10	0	6	3	4	1	2	2	6	4	6	3	2	1	1	0	2	1	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:4737172G>C	ENST00000545990.2	-	5	1420	c.896C>G	c.(895-897)tCc>tGc	p.S299C	AKAP3_ENST00000228850.1_Missense_Mutation_p.S299C	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	299					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTTCATGATGGAGACCATCAT	0.463													5	47					0	0	0	0	C	4737172	G	C	4737172	3	2	336	1	0	0	0	0	1	0	0	0	452	1174	41	2	1673	2	AKAP3	12	4737172	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1078	4737172	129114723	432	62550											
CHD4	1108	broad.mit.edu	37	chr12	6709540	6709540	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgtctcataaccatccAcagcagtcacctcctcctcg	8	10	6	17	1	3	0	2	0	2	0	8	0	6	0	5	1	2	1	5	1	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:6709540A>T	ENST00000309577.6	-	9	1248	c.1085T>A	c.(1084-1086)gTg>gAg	p.V362E	CHD4_ENST00000544040.1_Missense_Mutation_p.V355E|CHD4_ENST00000357008.2_Missense_Mutation_p.V362E|CHD4_ENST00000544484.1_Missense_Mutation_p.V359E			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	362					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATAACCATCCACAGCAGTCAC	0.562													12	90					0	0	0	0	T	6709540	A	T	6709540	3	4	336	1	0	0	0	0	1	0	0	0	3356	159	6	5	4781	5	CHD4	12	6709540	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	1972368	6709540	127142355	433	62551											
CD163	9332	broad.mit.edu	37	chr12	7640477	7640477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctcacactggaattcttCagcccagatctgtccatttc	8	13	5	15	0	4	1	2	0	2	1	7	2	6	2	3	1	1	0	3	1	1	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:7640477C>T	ENST00000359156.4	-	7	1829	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	CD163_ENST00000396620.3_Missense_Mutation_p.E543K|CD163_ENST00000432237.2_Missense_Mutation_p.E543K|CD163_ENST00000541972.1_Missense_Mutation_p.E531K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	543	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGGAATTCTTCAGCCCAGATC	0.537													13	76					0	0	0	0	T	7640477	C	T	7640477	3	4	336	1	0	0	0	0	1	0	0	0	2996	835	29	2	1883	2	CD163	12	7640477	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	930937	7640477	126211418	434	62552											
CLEC4A	50856	broad.mit.edu	37	chr12	8278194	8278194	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcacaaaagtaatacCggattccccaagctgctttg	11	9	7	14	1	1	0	1	0	0	0	2	1	2	1	5	1	3	3	5	1	5	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:8278194C>T	ENST00000229332.5	+	2	367	c.120C>T	c.(118-120)acC>acT	p.T40T	CLEC4A_ENST00000352620.3_Silent_p.T40T|CLEC4A_ENST00000360500.3_Intron|CLEC4A_ENST00000345999.3_Intron	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	40					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		AAAGTAATACCGGATTCCCCA	0.403													31	42					0	0	0	0	T	8278194	C	T	8278194	2	4	336	1	0	0	0	0	0	0	0	1	3542	639	23	1		1	CLEC4A	12	8278194	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	637717	8278194	125573701	435	62553											
PRR4	11272	broad.mit.edu	37	chr12	10999835	10999835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggatggcggtgatggcCtcctggttttggtggtctct	3	13	18	7	1	1	1	0	1	1	0	3	3	2	3	2	8	0	1	2	8	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:10999835C>A	ENST00000228811.4	-	3	269	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C	PRR4_ENST00000540107.1_Intron|PRR4_ENST00000544994.1_Intron|PRR4_ENST00000536668.1_5'UTR	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	78	Pro-rich.				visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						CGGTGATGGCCTCCTGGTTTT	0.567													13	246					4.36969e-10	6.20511e-10	1	0	A	10999835	C	A	10999835	3	1	336	1	0	0	0	0	1	0	0	0	12678	681	24	4	176	4	PRR4	12	10999835	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	2721641	10999835	122852060	436	62554											
SLCO1B3	28234	broad.mit.edu	37	chr12	21011481	21011481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactggaagtattttgacatCtttaccacatttcttcatgg	11	16	6	8	0	3	1	1	1	2	0	3	2	3	2	1	2	2	1	1	2	4	7	rs145334570	by1000genomes	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:21011481C>T	ENST00000381545.3	+	5	554	c.335C>T	c.(334-336)tCt>tTt	p.S112F	LST3_ENST00000381541.3_Missense_Mutation_p.S112F|LST3_ENST00000540229.1_Missense_Mutation_p.S112F|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S112F|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S112F|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S112F|SLCO1B3_ENST00000545880.1_3'UTR	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	112			S -> A (in dbSNP:rs4149117).		bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATTTTGACATCTTTACCACAT	0.328													14	81					0	0	0	0	T	21011481	C	T	21011481	3	4	336	1	0	0	0	0	1	0	0	0	14812	913	32	2	345	2	SLCO1B3	12	21011481	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	10011646	21011481	112840414	437	62555											
FAR2	55711	broad.mit.edu	37	chr12	29464014	29464014	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccaatggctgtggcagaCgtaattccagttgatacagt	11	11	10	9	1	0	2	0	1	0	1	2	2	2	2	2	2	1	4	2	2	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:29464014C>T	ENST00000182377.4	+	7	1090	c.822C>T	c.(820-822)gaC>gaT	p.D274D	FAR2_ENST00000547116.1_Silent_p.D177D|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Silent_p.D274D	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	274					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGCAGACGTAATTCCAG	0.418													13	149					0	0	0	0	T	29464014	C	T	29464014	2	4	336	1	0	0	0	0	0	0	0	1	5720	535	19	1		1	FAR2	12	29464014	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	8452533	29464014	104387881	438	62556											
ALG10	84920	broad.mit.edu	37	chr12	34175678	34175678	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctcaggcgcagcgctaCtgtgagggccatttctccct	5	10	11	15	2	2	1	1	1	1	0	3	1	2	1	3	2	3	2	3	2	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:34175678C>T	ENST00000266483.2	+	1	463	c.144C>T	c.(142-144)taC>taT	p.Y48Y	ALG10_ENST00000538927.1_Silent_p.Y48Y|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	48					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CGCAGCGCTACTGTGAGGGCC	0.622													23	252					0	0	0	0	T	34175678	C	T	34175678	2	4	336	1	0	0	0	0	0	0	0	1	511	576	20	4		4	ALG10	12	34175678	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	4711664	34175678	99676217	439	62557											
KIF21A	55605	broad.mit.edu	37	chr12	39745659	39745659	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatttcaatggtttctttGtctgaggatagtatggtagg	10	17	11	3	0	3	1	1	1	2	0	3	2	3	2	0	4	0	3	0	4	5	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:39745659G>A	ENST00000395670.3	-	11	2012	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D	KIF21A_ENST00000544797.2_Silent_p.D531D|KIF21A_ENST00000361418.5_Silent_p.D531D|KIF21A_ENST00000541463.2_Silent_p.D531D|KIF21A_ENST00000361961.3_Silent_p.D531D			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	531					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGGTTTCTTTGTCTGAGGATA	0.358													9	90					0	0	0	0	A	39745659	G	A	39745659	2	1	336	1	0	0	0	0	0	0	0	1	8339	1368	48	4		4	KIF21A	12	39745659	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	5569981	39745659	94106236	440	62558											
SLC38A4	55089	broad.mit.edu	37	chr12	47182395	47182395	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagtgtcttcattagcAaattgactgaacacacacac	13	12	5	11	0	3	2	2	2	1	0	3	2	3	2	0	0	2	1	0	0	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:47182395A>G	ENST00000447411.1	-	3	332	c.126T>C	c.(124-126)ttT>ttC	p.F42F	SLC38A4_ENST00000266579.4_Silent_p.F42F	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	42					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTTCATTAGCAAATTGACTGA	0.348													9	82					0	0	0	0	G	47182395	A	G	47182395	2	3	336	1	0	0	0	0	0	0	0	1	14694	127	5	5		5	SLC38A4	12	47182395	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	7436736	47182395	86669500	441	62559											
TROAP	10024	broad.mit.edu	37	chr12	49723237	49723237	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagatcctgccctgccctgGgtaagtatcagaagcttccc	9	9	10	13	0	1	2	1	0	0	2	3	3	3	2	4	1	3	3	4	1	4	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:49723237G>T	ENST00000551245.1	+	11	1275	c.1164_splice	c.e11+1	p.W388_splice	TROAP_ENST00000547923.1_Splice_Site_p.W96_splice|TROAP_ENST00000257909.3_Splice_Site_p.W388_splice			Q12815	TROAP_HUMAN	trophinin associated protein	388					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCCTGCCCTGGGTAAGTATCA	0.607													14	41					3.27435e-08	4.37302e-08	1	0	T	49723237	G	T	49723237	5	4	336	1	0	0	0	0	0	0	1	0	16670	1246	43	4	1304	4	TROAP	12	49723237	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2540842	49723237	84128658	442	62560											
KRT82	3888	broad.mit.edu	37	chr12	52789977	52789977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgagagccgcctcgccctGctgctctgcctcagctatgg	5	10	11	15	2	2	1	1	1	1	1	3	2	2	1	4	1	5	3	4	1	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:52789977G>T	ENST00000257974.2	-	7	1185	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	370	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GCCTCGCCCTGCTGCTCTGCC	0.627													4	34					2.56e-06	3.18718e-06	1	0	T	52789977	G	T	52789977	3	4	336	1	0	0	0	0	1	0	0	0	8548	1328	46	4	445	4	KRT82	12	52789977	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3066740	52789977	81061918	443	62561											
KRT71	112802	broad.mit.edu	37	chr12	52942485	52942485	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtgggcagacagacttacGgcttcaaagagacacctgaa	15	6	11	9	1	1	4	1	1	0	3	1	5	1	4	1	2	1	2	1	2	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:52942485G>A	ENST00000267119.5	-	4	882	c.813_splice	c.e4+1	p.A271_splice		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	271	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		ACAGACTTACGGCTTCAAAGA	0.532													10	87					0	0	0	0	A	52942485	G	A	52942485	5	1	336	1	0	0	0	0	0	0	1	0	8536	1130	39	1	782	1	KRT71	12	52942485	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	152508	52942485	80909410	444	62562											
KRT3	3850	broad.mit.edu	37	chr12	53189270	53189270	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaatctgggggtcgatcTccacattgaggggctgcagg	7	8	15	11	1	2	1	0	1	2	0	4	2	2	1	2	5	1	2	2	5	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:53189270T>G	ENST00000417996.2	-	1	631	c.557A>C	c.(556-558)gAg>gCg	p.E186A	KRT3_ENST00000309505.3_Missense_Mutation_p.E186A	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	186	Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GGGGTCGATCTCCACATTGAG	0.547													15	45					0	0	0	0	G	53189270	T	G	53189270	3	3	336	1	0	0	0	0	1	0	0	0	8518	1551	54	5	1365	5	KRT3	12	53189270	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	246785	53189270	80662625	445	62563											
NFE2	4778	broad.mit.edu	37	chr12	54688989	54688989	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagctctgaagtggacagcTgtatcaccctgttcctgctc	7	12	9	13	0	2	1	1	1	1	0	4	2	3	2	2	1	3	5	2	1	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:54688989T>A	ENST00000540264.2	-	1	553	c.44A>T	c.(43-45)cAg>cTg	p.Q15L	NFE2_ENST00000553070.1_Missense_Mutation_p.Q15L|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Missense_Mutation_p.Q15L|NFE2_ENST00000312156.4_Missense_Mutation_p.Q15L			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	15	Required for interaction with MAPK8 (By similarity).|Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						AGTGGACAGCTGTATCACCCT	0.587													6	52					0	0	0	0	A	54688989	T	A	54688989	3	1	336	1	0	0	0	0	1	0	0	0	10436	1580	55	5	1085	5	NFE2	12	54688989	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	1499719	54688989	79162906	446	62564											
DGKA	1606	broad.mit.edu	37	chr12	56333089	56333089	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgctgggtctggagatGgtgagtaggagagactttgg	7	11	19	4	0	1	3	0	1	1	2	1	6	1	4	0	5	2	3	0	5	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:56333089G>T	ENST00000331886.5	+	8	1048	c.594_splice	c.e8+1	p.M198_splice	DGKA_ENST00000551156.1_Splice_Site_p.M198_splice|DGKA_ENST00000394147.1_Splice_Site_p.M198_splice|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	198					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTCTGGAGATGGTGAGTAGGA	0.562													21	87					2.4624e-09	3.42447e-09	1	0	T	56333089	G	T	56333089	5	4	336	1	0	0	0	0	0	0	1	0	4502	1362	47	4	620	4	DGKA	12	56333089	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1644100	56333089	77518806	447	62565											
COQ10A	93058	broad.mit.edu	37	chr12	56663953	56663953	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatttcctttgaatttcgttCtctgctgcactcccagctgg	5	16	8	12	1	1	1	0	1	1	0	5	2	3	1	2	1	3	4	2	1	1	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:56663953C>G	ENST00000308197.5	+	5	857	c.596C>G	c.(595-597)tCt>tGt	p.S199C	COQ10A_ENST00000546544.1_Missense_Mutation_p.S182C|COQ10A_ENST00000433805.2_Missense_Mutation_p.S167C	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	199						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GAATTTCGTTCTCTGCTGCAC	0.483													15	165					0	0	0	0	G	56663953	C	G	56663953	3	3	336	1	0	0	0	0	1	0	0	0	3773	913	32	2	656	2	COQ10A	12	56663953	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	330864	56663953	77187942	448	62566											
LRP1	4035	broad.mit.edu	37	chr12	57532247	57532247	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttccttgccctagcccctAagacttgcagccccaagcag	8	9	7	17	0	0	1	0	0	0	1	1	1	1	1	6	0	5	2	6	0	3	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:57532247A>T	ENST00000243077.3	+	2	539	c.73A>T	c.(73-75)Aag>Tag	p.K25*	LRP1_ENST00000554174.1_Nonsense_Mutation_p.K25*|LRP1_ENST00000553277.1_Nonsense_Mutation_p.K25*|LRP1_ENST00000338962.4_Nonsense_Mutation_p.K25*	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	25	LDL-receptor class A 1.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTAGCCCCTAAGACTTGCAG	0.527													13	140					0	0	0	0	T	57532247	A	T	57532247	4	4	336	1	0	0	0	0	0	1	0	0	9015	363	13	5	79	5	LRP1	12	57532247	Nonsense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	868294	57532247	76319648	449	62567											
GLI1	2735	broad.mit.edu	37	chr12	57858560	57858560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacctgcagacggttatcCgcacctcacccagctccctc	7	8	8	18	2	1	1	1	0	0	1	4	2	3	2	5	2	2	4	5	2	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:57858560C>T	ENST00000228682.2	+	4	389	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	GLI1_ENST00000546141.1_Missense_Mutation_p.R59C|GLI1_ENST00000543426.1_5'UTR	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	100					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.R100C(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GACGGTTATCCGCACCTCACC	0.567													4	53					0	0	0	0	T	57858560	C	T	57858560	3	4	336	1	0	0	0	0	1	0	0	0	6488	652	23	1	308	1	GLI1	12	57858560	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	326313	57858560	75993335	450	62568											
RAB3IP	117177	broad.mit.edu	37	chr12	70209175	70209175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgggaggttatgcagttGagaaaagagatgtcattggc	11	13	14	3	0	1	2	1	1	0	2	1	5	1	3	0	3	1	3	0	3	3	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:70209175G>C	ENST00000550536.1	+	11	1837	c.1380G>C	c.(1378-1380)ttG>ttC	p.L460F	RAB3IP_ENST00000247833.7_Missense_Mutation_p.L444F|RAB3IP_ENST00000550847.1_Missense_Mutation_p.L151F|AC025263.3_ENST00000550437.1_Intron|RAB3IP_ENST00000362025.5_3'UTR|RAB3IP_ENST00000325555.9_Missense_Mutation_p.L238F|RAB3IP_ENST00000551641.1_Missense_Mutation_p.L238F|RAB3IP_ENST00000483530.2_3'UTR|RAB3IP_ENST00000553099.1_Missense_Mutation_p.L238F	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	460					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TTATGCAGTTGAGAAAAGAGA	0.378													7	76					0	0	0	0	C	70209175	G	C	70209175	3	2	336	1	0	0	0	0	1	0	0	0	13020	1281	45	2	1422	2	RAB3IP	12	70209175	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	12350615	70209175	63642720	451	62569											
PPFIA2	8499	broad.mit.edu	37	chr12	81657168	81657168	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaagttcttgtcatcaCtctgccagtacagttataag	10	14	8	9	0	5	1	2	1	3	0	5	1	5	1	1	0	2	3	1	0	4	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:81657168C>A	ENST00000550584.2	-	30	3852	c.3555_splice	c.e30-1	p.S1186_splice	PPFIA2_ENST00000541017.1_Splice_Site_p.S372_splice|PPFIA2_ENST00000550359.2_Splice_Site_p.S1033_splice|PPFIA2_ENST00000548586.1_Splice_Site_p.S1180_splice|PPFIA2_ENST00000549396.1_Splice_Site_p.S1186_splice|PPFIA2_ENST00000549325.1_Splice_Site_p.S1171_splice|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Splice_Site_p.S722_splice|PPFIA2_ENST00000443686.3_Splice_Site_p.S1081_splice|PPFIA2_ENST00000552948.1_Splice_Site_p.S1165_splice|PPFIA2_ENST00000407050.4_Splice_Site_p.S1085_splice|PPFIA2_ENST00000333447.7_Splice_Site_p.S1174_splice	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1085										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTTGTCATCACTCTGCCAGTA	0.403													6	41					0.0215528	0.0223551	1	0	A	81657168	C	A	81657168	5	1	336	1	0	0	0	0	0	0	1	0	12381	579	20	4	224	4	PPFIA2	12	81657168	Splice_Site	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	11447993	81657168	52194727	452	62570											
LRRIQ1	84125	broad.mit.edu	37	chr12	85518156	85518156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaaaatatggaaggaaGacatcaggaaatattagtat	19	10	10	2	0	1	2	1	1	0	1	1	5	1	5	0	3	0	1	0	3	9	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:85518156G>T	ENST00000393217.2	+	17	3927	c.3866G>T	c.(3865-3867)aGa>aTa	p.R1289I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1289										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATGGAAGGAAGACATCAGGAA	0.428													29	173					7.26314e-15	1.1052e-14	1	0	T	85518156	G	T	85518156	3	4	336	1	0	0	0	0	1	0	0	0	9093	942	33	2	3928	2	LRRIQ1	12	85518156	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3860988	85518156	48333739	453	62571											
EEA1	8411	broad.mit.edu	37	chr12	93171788	93171788	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatactgcaatttcaccccgTaagtcatccgtttgtttctc	9	15	5	12	2	3	0	2	0	1	0	5	0	4	0	3	0	2	4	3	0	4	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:93171788T>A	ENST00000322349.8	-	26	4086	c.3822A>T	c.(3820-3822)ttA>ttT	p.L1274F		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	1274					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTTCACCCCGTAAGTCATCCG	0.383													18	124					0	0	0	0	A	93171788	T	A	93171788	3	1	336	1	0	0	0	0	1	0	0	0	4957	1635	57	5	429	5	EEA1	12	93171788	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	7653632	93171788	40680107	454	62572											
PLXNC1	10154	broad.mit.edu	37	chr12	94653490	94653490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacccttgaaaagcagaaGaacttttctgtgaaggacag	15	8	9	9	0	1	4	0	2	1	2	1	5	1	5	1	1	2	1	1	1	5	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:94653490G>T	ENST00000258526.4	+	19	3480	c.3231G>T	c.(3229-3231)aaG>aaT	p.K1077N	PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.K124N	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1077					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAAAGCAGAAGAACTTTTCTG	0.418													17	66					2.94398e-08	3.94484e-08	1	0	T	94653490	G	T	94653490	3	4	336	1	0	0	0	0	1	0	0	0	12198	933	33	2	3305	2	PLXNC1	12	94653490	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1481702	94653490	39198405	455	62573											
POLR3B	55703	broad.mit.edu	37	chr12	106772047	106772047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtttcctttgggtaggtGgctacttcattgttaaagga	7	17	11	6	0	1	0	1	0	0	0	2	1	2	1	1	4	1	4	1	4	4	8			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:106772047G>A	ENST00000228347.4	+	8	721	c.499G>A	c.(499-501)Ggc>Agc	p.G167S	POLR3B_ENST00000539066.1_Missense_Mutation_p.G109S	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	167					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTGGGTAGGTGGCTACTTCAT	0.388													16	70					0	0	0	0	A	106772047	G	A	106772047	3	1	336	1	0	0	0	0	1	0	0	0	12301	1348	47	4	529	4	POLR3B	12	106772047	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	12118557	106772047	27079848	456	62574											
TAOK3	51347	broad.mit.edu	37	chr12	118619223	118619223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggccagcttctccagctCgatggacgagttgttggcat	6	12	12	11	2	1	0	0	0	1	0	3	3	1	1	2	3	2	5	2	3	0	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:118619223C>T	ENST00000392533.3	-	15	2009	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	TAOK3_ENST00000537952.1_Missense_Mutation_p.E47K|TAOK3_ENST00000419821.2_Missense_Mutation_p.E507K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	507					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTCCAGCTCGATGGACGAG	0.562											OREG0022177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	63					0	0	0	0	T	118619223	C	T	118619223	3	4	336	1	0	0	0	0	1	0	0	0	15640	893	31	1	1205	1	TAOK3	12	118619223	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	11847176	118619223	15232672	457	62575											
EP400	57634	broad.mit.edu	37	chr12	132547186	132547186	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctcaggtgcaagttccAcagatccagggccaggccca	10	6	10	15	0	1	1	1	0	1	1	4	1	3	1	5	3	1	2	5	3	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:132547186A>G	ENST00000333577.4	+	48	8491	c.8382A>G	c.(8380-8382)ccA>ccG	p.P2794P	EP400_ENST00000332482.4_Silent_p.P2721P|EP400_ENST00000389562.2_Silent_p.P2757P|EP400_ENST00000389561.2_Silent_p.P2758P|EP400_ENST00000330386.6_Silent_p.P2677P			Q96L91	EP400_HUMAN	E1A binding protein p400	2794					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGCAAGTTCCACAGATCCAGG	0.602													8	57					0	0	0	0	G	132547186	A	G	132547186	2	3	336	1	0	0	0	0	0	0	0	1	5187	146	6	5		5	EP400	12	132547186	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	13927963	132547186	1304709	458	62576											
GOLGA3	2802	broad.mit.edu	37	chr12	133363311	133363311	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgcaactcttcgatttgTttcttcagcgcctcattggc	5	16	8	12	2	4	0	2	0	2	0	5	1	4	0	1	1	4	3	1	1	1	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:133363311T>A	ENST00000204726.3	-	14	3432	c.2874A>T	c.(2872-2874)aaA>aaT	p.K958N	GOLGA3_ENST00000450791.2_Missense_Mutation_p.K958N|GOLGA3_ENST00000545875.1_Missense_Mutation_p.K958N|GOLGA3_ENST00000537452.1_Missense_Mutation_p.K958N|GOLGA3_ENST00000456883.2_Missense_Mutation_p.K958N	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	958					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTTCGATTTGTTTCTTCAGCG	0.647													27	108					0	0	0	0	A	133363311	T	A	133363311	3	1	336	1	0	0	0	0	1	0	0	0	6605	1722	60	5	1804	5	GOLGA3	12	133363311	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	816125	133363311	488584	459	62577											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20220853	20220853	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaactaaaggagtccAaaaagcccaaaaaagatgaa	24	3	8	6	0	0	4	0	1	0	3	1	5	1	5	2	1	2	0	2	1	11	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:20220853A>C	ENST00000361479.5	+	3	708	c.640A>C	c.(640-642)Aaa>Caa	p.K214Q	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.K214Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	214	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AAAGGAGTCCAAAAAGCCCaa	0.333													5	22					0	0	0	0	C	20220853	A	C	20220853	3	2	336	1	0	0	0	0	1	0	0	0	9797	131	5	5	650	5	MPHOSPH8	13	20220853	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08		20220853	94949025	460	62578											
KATNAL1	84056	broad.mit.edu	37	chr13	30854276	30854276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaggacacagggaaatCtggaggcttgtcaattttaa	13	11	11	6	0	2	1	1	1	1	0	2	4	2	4	0	4	0	1	0	4	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:30854276C>A	ENST00000380615.3	-	3	414	c.247G>T	c.(247-249)Gat>Tat	p.D83Y	KATNAL1_ENST00000380617.3_Missense_Mutation_p.D83Y	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	83						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		ACAGGGAAATCTGGAGGCTTG	0.373													7	20					0.00198382	0.00216905	1	0	A	30854276	C	A	30854276	3	1	336	1	0	0	0	0	1	0	0	0	8038	913	32	2	1261	2	KATNAL1	13	30854276	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	10633423	30854276	84315602	461	62579											
RXFP2	122042	broad.mit.edu	37	chr13	32376514	32376514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgaacaaaataacacttgGagacagtataatgaaaccag	19	9	7	6	0	0	3	0	2	0	1	0	4	0	3	1	1	3	1	1	1	7	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:32376514G>A	ENST00000298386.2	+	18	2308	c.2237G>A	c.(2236-2238)gGa>gAa	p.G746E	RXFP2_ENST00000380314.1_Missense_Mutation_p.G722E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	746						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATAACACTTGGAGACAGTATA	0.368													49	167					0	0	0	0	A	32376514	G	A	32376514	3	1	336	1	0	0	0	0	1	0	0	0	13845	1174	41	2	2307	2	RXFP2	13	32376514	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1522238	32376514	82793364	462	62580											
FRY	10129	broad.mit.edu	37	chr13	32786436	32786436	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccatctacaggaaccacCtctagcagcaatacagtggt	12	9	7	13	0	2	0	0	0	2	0	3	1	3	1	3	2	5	2	3	2	5	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:32786436C>T	ENST00000380250.3	+	35	5095	c.4599C>T	c.(4597-4599)acC>acT	p.T1533T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAGGAACCACCTCTAGCAGCA	0.418													3	16					0	0	0	0	T	32786436	C	T	32786436	2	4	336	1	0	0	0	0	0	0	0	1	6111	668	24	4		4	FRY	13	32786436	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	409922	32786436	82383442	463	62581											
TRPC4	7223	broad.mit.edu	37	chr13	38237740	38237740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgcagaggtcccaggtGagaatttgcagtaaacagtg	12	11	12	6	0	0	2	0	1	0	2	1	3	1	2	1	2	3	3	1	2	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:38237740G>T	ENST00000379705.3	-	6	2358	c.1501C>A	c.(1501-1503)Cac>Aac	p.H501N	TRPC4_ENST00000355779.2_Missense_Mutation_p.H501N|TRPC4_ENST00000379673.2_Missense_Mutation_p.H501N|TRPC4_ENST00000379681.3_Missense_Mutation_p.H501N|TRPC4_ENST00000379679.1_Missense_Mutation_p.H328N|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000447043.1_Missense_Mutation_p.H501N|TRPC4_ENST00000338947.5_Missense_Mutation_p.H328N|TRPC4_ENST00000358477.2_Missense_Mutation_p.H501N|TRPC4_ENST00000494529.1_5'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	501					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)		GGTCCCAGGTGAGAATTTGCA	0.443													9	49					1.12685e-05	1.36711e-05	1	0	T	38237740	G	T	38237740	3	4	336	1	0	0	0	0	1	0	0	0	16675	1290	45	2	1471	2	TRPC4	13	38237740	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	5451304	38237740	76932138	464	62582											
FREM2	341640	broad.mit.edu	37	chr13	39262895	39262895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcaaaacttggtcatcagcGatgaggatgacctagaagca	14	7	11	9	2	2	3	2	2	0	1	2	5	2	4	1	2	3	2	1	2	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:39262895G>A	ENST00000280481.7	+	1	1630	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	472					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGTCATCAGCGATGAGGATGA	0.592													12	44					0	0	0	0	A	39262895	G	A	39262895	3	1	336	1	0	0	0	0	1	0	0	0	6093	1058	37	1	1416	1	FREM2	13	39262895	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1025155	39262895	75906983	465	62583											
GTF2F2	2963	broad.mit.edu	37	chr13	45841372	45841372	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtttgcatatagatcgAatatgaaaggaaaaagaaag	18	10	10	3	1	0	3	0	1	0	2	1	5	0	4	0	1	2	3	0	1	8	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:45841372A>T	ENST00000340473.6	+	7	632	c.491A>T	c.(490-492)gAa>gTa	p.E164V	GTF2F2_ENST00000494087.1_3'UTR	NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	164					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding	p.E164A(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		ATATAGATCGAATATGAAAGG	0.333													14	40					0	0	0	0	T	45841372	A	T	45841372	3	4	336	1	0	0	0	0	1	0	0	0	6909	246	9	5	517	5	GTF2F2	13	45841372	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	6578477	45841372	69328506	466	62584											
THSD1	55901	broad.mit.edu	37	chr13	52951826	52951826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgggggacggtccccgaCgagctctgtggggctctgtt	4	9	17	11	3	2	0	0	0	2	0	3	4	3	1	2	5	1	3	2	5	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:52951826C>G	ENST00000349258.4	-	4	2664	c.2120G>C	c.(2119-2121)cGt>cCt	p.R707P	THSD1_ENST00000544466.1_Missense_Mutation_p.R381P|THSD1_ENST00000258613.4_Missense_Mutation_p.R760P	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	760						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CGGTCCCCGACGAGCTCTGTG	0.547													45	130					0	0	0	0	G	52951826	C	G	52951826	3	3	336	1	0	0	0	0	1	0	0	0	15971	536	19	3	283	3	THSD1	13	52951826	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	7110454	52951826	62218052	467	62585											
THSD1	55901	broad.mit.edu	37	chr13	52972134	52972134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagcactcaaactttagtGttccctgggactggttggtc	9	12	11	9	0	1	1	1	0	0	1	3	2	2	2	1	3	2	3	1	3	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:52972134G>T	ENST00000349258.4	-	3	798	c.254C>A	c.(253-255)aCa>aAa	p.T85K	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.T85K	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	85						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AAACTTTAGTGTTCCCTGGGA	0.498													5	82					0.000602214	0.000673014	1	0	T	52972134	G	T	52972134	3	4	336	1	0	0	0	0	1	0	0	0	15971	1377	48	4	2316	4	THSD1	13	52972134	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	20308	52972134	62197744	468	62586											
OLFM4	10562	broad.mit.edu	37	chr13	53616047	53616047	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttgattttctttcaggtGagggaatatgtccaattaat	10	18	8	5	0	2	2	1	2	1	0	3	3	3	3	1	2	0	0	1	2	4	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:53616047G>A	ENST00000219022.2	+	3	438	c.360G>A	c.(358-360)gtG>gtA	p.V120V		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	120					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TCTTTCAGGTGAGGGAATATG	0.383													9	31					0	0	0	0	A	53616047	G	A	53616047	2	1	336	1	0	0	0	0	0	0	0	1	10926	1277	45	2		2	OLFM4	13	53616047	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	643913	53616047	61553831	469	62587											
PCDH20	64881	broad.mit.edu	37	chr13	61987495	61987495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtagtccagtaagcgatagGtctgtaccccattaatgcct	10	11	10	10	1	1	0	0	0	1	0	2	1	2	0	4	2	3	3	4	2	5	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:61987495G>T	ENST00000409186.1	-	5	2842	c.737C>A	c.(736-738)aCc>aAc	p.T246N	PCDH20_ENST00000409204.4_Missense_Mutation_p.T246N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	219	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TAAGCGATAGGTCTGTACCCC	0.537													21	88					1.96292e-10	2.79725e-10	1	0	T	61987495	G	T	61987495	3	4	336	1	0	0	0	0	1	0	0	0	11586	1261	44	4	2122	4	PCDH20	13	61987495	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	8371448	61987495	53182383	470	62588											
MYCBP2	23077	broad.mit.edu	37	chr13	77792089	77792089	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaacaagagtgggacaTcccctaggttaaaaaaaaaa	18	7	9	7	0	0	2	0	1	0	1	1	3	1	3	2	2	1	2	2	2	8	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:77792089T>C	ENST00000407578.2	-	21	3209	c.2943A>G	c.(2941-2943)ggA>ggG	p.G981G	MYCBP2_ENST00000544440.2_Silent_p.G943G|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.G943G	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	943					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGTGGGACATCCCCTAGGTT	0.383													9	61					0	0	0	0	C	77792089	T	C	77792089	2	2	336	1	0	0	0	0	0	0	0	1	10088	1422	50	5		5	MYCBP2	13	77792089	Silent	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	15804594	77792089	37377789	471	62589											
SLITRK5	26050	broad.mit.edu	37	chr13	88327745	88327745	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgctgtaacatctctcgtCctttcgtgtgcagaaaccat	8	15	7	11	2	1	1	0	0	1	1	5	1	2	1	2	0	4	3	2	0	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:88327745C>A	ENST00000325089.6	+	2	321	c.102C>A	c.(100-102)gtC>gtA	p.V34V	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	34						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CATCTCTCGTCCTTTCGTGTG	0.463													18	88					4.75885e-15	7.26871e-15	1	0	A	88327745	C	A	88327745	2	1	336	1	0	0	0	0	0	0	0	1	14834	842	30	2		2	SLITRK5	13	88327745	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	10535656	88327745	26842133	472	62590											
SLITRK5	26050	broad.mit.edu	37	chr13	88328918	88328918	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactacatcgctgtcgtgcgCaggacagacttcctggaggc	9	8	12	12	3	0	1	0	0	0	1	3	3	1	3	1	3	3	2	1	3	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:88328918C>T	ENST00000325089.6	+	2	1494	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R	SLITRK5_ENST00000400028.3_Silent_p.R184R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	425						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTGTCGTGCGCAGGACAGACT	0.572													5	38					0	0	0	0	T	88328918	C	T	88328918	2	4	336	1	0	0	0	0	0	0	0	1	14834	697	25	4		4	SLITRK5	13	88328918	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1173	88328918	26840960	473	62591											
CLYBL	171425	broad.mit.edu	37	chr13	100543602	100543602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttccaagggagtatgatcGacatgccattactgaagcag	12	10	10	9	1	0	2	0	2	0	0	2	4	1	3	2	1	3	2	2	1	4	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:100543602G>A	ENST00000376355.3	+	7	887	c.856G>A	c.(856-858)Gac>Aac	p.D286N	CLYBL_ENST00000339105.4_Missense_Mutation_p.D320N|CLYBL_ENST00000376354.1_Missense_Mutation_p.D286N|CLYBL_ENST00000376360.1_Missense_Mutation_p.D320N	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	320					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGTATGATCGACATGCCATT	0.438													7	56					0	0	0	0	A	100543602	G	A	100543602	3	1	336	1	0	0	0	0	1	0	0	0	3603	1058	37	1	988	1	CLYBL	13	100543602	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	12214684	100543602	14626276	474	62592											
FGF14	2259	broad.mit.edu	37	chr13	103053968	103053968	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaaagaagagatcctTgtggttgcataataataatt	15	12	9	5	0	0	3	0	1	0	3	1	5	1	3	2	1	1	2	2	1	5	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:103053968T>C	ENST00000376131.4	-	1	156	c.61A>G	c.(61-63)Aag>Gag	p.K21E	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGAGATCCTTGTGGTTGCAT	0.403													14	43					0	0	0	0	C	103053968	T	C	103053968	3	2	336	1	0	0	0	0	1	0	0	0	5888	1821	63	5	914	5	FGF14	13	103053968	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	2510366	103053968	12115910	475	62593											
EFNB2	1948	broad.mit.edu	37	chr13	107145691	107145691	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatgaagatgatgcatccTgaagcaatccctgcaaataa	16	8	8	9	1	0	4	0	3	0	1	2	5	2	4	2	0	3	3	2	0	5	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:107145691T>C	ENST00000245323.4	-	5	848	c.699A>G	c.(697-699)tcA>tcG	p.S233S		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	233					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					tgatgCATCCTGAAGCAATCC	0.567													15	64					0	0	0	0	C	107145691	T	C	107145691	2	2	336	1	0	0	0	0	0	0	0	1	4992	1567	55	5		5	EFNB2	13	107145691	Silent	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	4091723	107145691	8024187	476	62594											
OR4Q3	441669	broad.mit.edu	37	chr14	20215695	20215695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttttgtttttttacattGctattgtcctgggaaacctc	7	21	6	7	0	0	0	0	0	0	0	2	1	1	1	2	1	3	2	2	1	4	10			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:20215695G>T	ENST00000331723.1	+	1	109	c.109G>T	c.(109-111)Gct>Tct	p.A37S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTTTACATTGCTATTGTCCT	0.383													11	247					0.000978159	0.00108714	1	0	T	20215695	G	T	20215695	3	4	336	1	0	0	0	0	1	0	0	0	11152	1319	46	4	111	4	OR4Q3	14	20215695	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08		20215695	87133845	477	62595											
OR4K5	79317	broad.mit.edu	37	chr14	20389117	20389117	+	Missense_Mutation	SNP	A	A	G																															agatggtgctacttgtttcgAtggcctatgacaggtatgta																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:20389117A>G	ENST00000315915.4	+	1	377	c.352A>G	c.(352-354)Atg>Gtg	p.M118V		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTTGTTTCGATGGCCTATGA	0.448													21	337					0	0	0	0	G	20389117	A	G	20389117	3	3	336	1	0	0	0	0	1	0	0	0	11144	333	12	5	354	5	OR4K5	14	20389117	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	173422	20389117	86960423	478	62596	749	2									
OR4K5	79317	broad.mit.edu	37	chr14	20389120	20389120	+	Missense_Mutation	SNP	G	G	A																															tggtgctacttgtttcgatgGcctatgacaggtatgtagcc																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:20389120G>A	ENST00000315915.4	+	1	380	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTTCGATGGCCTATGACAG	0.458													18	342					0	0	0	0	A	20389120	G	A	20389120	3	1	336	1	0	0	0	0	1	0	0	0	11144	1203	42	4	357	4	OR4K5	14	20389120	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3	20389120	86960420	479	62597	749	2									
OR4L1	122742	broad.mit.edu	37	chr14	20529067	20529067	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaatccgagtatttatacCctgagaaataagaaaatgca	17	10	7	7	1	0	3	0	2	0	2	1	5	1	3	2	0	2	2	2	0	8	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:20529067C>A	ENST00000315683.1	+	1	864	c.864C>A	c.(862-864)acC>acA	p.T288T		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTATTTATACCCTGAGAAATA	0.328													5	75					2.0095e-06	2.50954e-06	1	0	A	20529067	C	A	20529067	2	1	336	1	0	0	0	0	0	0	0	1	11145	610	22	4		4	OR4L1	14	20529067	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	139947	20529067	86820473	480	62598											
REC8	9985	broad.mit.edu	37	chr14	24642506	24642506	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acattctctcccagacccagCctgctgcttcctaaccacct	8	10	4	19	0	1	1	0	0	1	1	4	1	3	1	6	0	4	2	6	0	1	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:24642506C>T	ENST00000311457.3	+	6	947	c.348C>T	c.(346-348)agC>agT	p.S116S	REC8_ENST00000559919.1_Silent_p.S116S			O95072	REC8_HUMAN	REC8 meiotic recombination protein	116					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCAGACCCAGCCTGCTGCTTC	0.557													74	100					0	0	0	0	T	24642506	C	T	24642506	2	4	336	1	0	0	0	0	0	0	0	1	13281	738	26	4		4	REC8	14	24642506	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	4113439	24642506	82707034	481	62599											
GZMH	2999	broad.mit.edu	37	chr14	25076387	25076387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgtcttctttggatcccCcacacaaatctcagtggctc	7	13	7	14	0	3	0	1	0	3	0	6	1	4	1	2	2	0	1	2	2	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:25076387C>T	ENST00000216338.4	-	4	609	c.565G>A	c.(565-567)Ggg>Agg	p.G189R	RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Intron|GZMH_ENST00000382548.4_Intron	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	189	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		TTTGGATCCCCCACACAAATC	0.522													14	287					0	0	0	0	T	25076387	C	T	25076387	3	4	336	1	0	0	0	0	1	0	0	0	6967	623	22	4	183	4	GZMH	14	25076387	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	433881	25076387	82273153	482	62600											
FSCB	84075	broad.mit.edu	37	chr14	44974106	44974106	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagagtgtactgcagcaagGgtctcttctataggagtctc	9	11	13	8	0	3	1	0	0	3	1	5	3	3	2	0	3	3	3	0	3	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:44974106G>T	ENST00000340446.4	-	1	2376	c.2085C>A	c.(2083-2085)acC>acA	p.T695T		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	695						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGCAGCAAGGGTCTCTTCTA	0.567													8	35					1.06961e-07	1.40757e-07	1	0	T	44974106	G	T	44974106	2	4	336	1	0	0	0	0	0	0	0	1	6114	1219	43	4		4	FSCB	14	44974106	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	19897719	44974106	62375434	483	62601											
FSCB	84075	broad.mit.edu	37	chr14	44974743	44974743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcaggagtttcatctgcaGgaggctccgtagctgctaga	8	9	14	10	2	2	1	1	0	1	1	3	3	3	3	1	4	3	7	1	4	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:44974743G>T	ENST00000340446.4	-	1	1739	c.1448C>A	c.(1447-1449)cCt>cAt	p.P483H		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	483	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTCATCTGCAGGAGGCTCCGT	0.502													6	40					0.00116845	0.00129152	1	0	T	44974743	G	T	44974743	3	4	336	1	0	0	0	0	1	0	0	0	6114	1000	35	4	1033	4	FSCB	14	44974743	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	637	44974743	62374797	484	62602											
KLHL28	54813	broad.mit.edu	37	chr14	45414972	45414973	+	Frame_Shift_Ins	INS	-	-	A																															aaatacgggctgacgctggcINSaagtaccactttgtgagcat																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:45414972_45414973insA	ENST00000396128.4	-	2	278_279	c.159_160insT	c.(157-162)ctccagfs	p.Q54fs	KLHL28_ENST00000355081.2_Frame_Shift_Ins_p.Q68fs	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	54	BTB.									breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTGACGCTGGCAAGTACCACTT	0.426													11	97	---	---	---	---					A	45414973	-	A	45414972	7	5	336	1	0	1	1	0	0	0	0	0	8434	710	25	0	1571	0	KLHL28	14	45414972	Frame_Shift_Ins	INS	-	TCGA-CV-A45W-01A-11D-A25D-08	440229	45414972	61934568	485	62603											
PYGL	5836	broad.mit.edu	37	chr14	51411043	51411043	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgaaactcttcttcagctCtgccacgttctccacgccca	7	12	6	16	2	5	1	1	1	4	0	6	1	5	1	3	0	3	3	3	0	1	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:51411043C>G	ENST00000216392.7	-	1	411	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	PYGL_ENST00000544180.2_Missense_Mutation_p.E27Q|PYGL_ENST00000532462.1_Missense_Mutation_p.E27Q	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	27					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TTCTTCAGCTCTGCCACGTTC	0.667													5	36					0	0	0	0	G	51411043	C	G	51411043	3	3	336	1	0	0	0	0	1	0	0	0	12943	922	32	2	2544	2	PYGL	14	51411043	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	5996071	51411043	55938497	486	62604											
MTHFD1	4522	broad.mit.edu	37	chr14	64894130	64894130	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagcccttggtgcccatctCtaccagaatgtctttgcgtg	7	12	9	13	1	2	1	0	0	2	1	3	1	2	1	3	1	4	0	3	1	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:64894130C>T	ENST00000555709.1	+	12	1590	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	MTHFD1_ENST00000216605.7_Silent_p.L457L|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000545908.1_Silent_p.L457L|MTHFD1_ENST00000555252.1_Silent_p.L381L	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	401	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GTGCCCATCTCTACCAGAATG	0.512													6	107					0	0	0	0	T	64894130	C	T	64894130	2	4	336	1	0	0	0	0	0	0	0	1	9997	900	32	2		2	MTHFD1	14	64894130	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	13483087	64894130	42455410	487	62605											
SPTB	6710	broad.mit.edu	37	chr14	65241981	65241981	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccggccgctgcctcccgcagCctgtcccaggagctctgcag	4	6	12	19	3	1	0	0	0	1	0	3	1	3	1	6	2	4	4	6	2	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:65241981C>G	ENST00000389722.3	-	22	4757	c.4704G>C	c.(4702-4704)agG>agC	p.R1568S	SPTB_ENST00000542895.1_Missense_Mutation_p.R1568S|SPTB_ENST00000556626.1_Missense_Mutation_p.R1568S|SPTB_ENST00000389720.3_Missense_Mutation_p.R1568S|SPTB_ENST00000389721.5_Missense_Mutation_p.R1568S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1568					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTCCCGCAGCCTGTCCCAGG	0.677													4	39					0	0	0	0	G	65241981	C	G	65241981	3	3	336	1	0	0	0	0	1	0	0	0	15208	738	26	4	2407	4	SPTB	14	65241981	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	347851	65241981	42107559	488	62606											
KIAA0247	9766	broad.mit.edu	37	chr14	70175525	70175525	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgaccccagagtacAgattgtgctgtcagaagggt	10	9	12	10	0	1	4	1	1	0	3	1	4	1	4	3	1	3	3	3	1	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:70175525A>G	ENST00000342745.4	+	5	903	c.590A>G	c.(589-591)cAg>cGg	p.Q197R		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	197						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CCCAGAGTACAGATTGTGCTG	0.582													16	70					0	0	0	0	G	70175525	A	G	70175525	3	3	336	1	0	0	0	0	1	0	0	0	8216	188	7	5	604	5	KIAA0247	14	70175525	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	4933544	70175525	37174015	489	62607											
TDP1	55775	broad.mit.edu	37	chr14	90458311	90458311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgaaaaacagaattggCtgcattcctattttcagtaa	14	12	7	8	0	1	2	1	1	0	1	2	2	2	2	1	1	3	4	1	1	5	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:90458311C>T	ENST00000335725.4	+	13	1667	c.1417C>T	c.(1417-1419)Ctg>Ttg	p.L473L	TDP1_ENST00000393452.3_Silent_p.L473L|TDP1_ENST00000393454.2_Silent_p.L473L|TDP1_ENST00000357382.3_Silent_p.L234L|TDP1_ENST00000555880.1_Silent_p.L473L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	473					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ACAGAATTGGCTGCATTCCTA	0.308								Repair of DNA-protein crosslinks					13	78					0	0	0	0	T	90458311	C	T	90458311	2	4	336	1	0	0	0	0	0	0	0	1	15822	796	28	4		4	TDP1	14	90458311	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	20282786	90458311	16891229	490	62608											
ASB2	51676	broad.mit.edu	37	chr14	94423168	94423168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcatgaccccttggaaCaagcccattggggcccgggc	7	8	12	14	1	1	1	0	1	1	0	1	2	1	2	4	4	3	1	4	4	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:94423168C>A	ENST00000555019.1	-	3	685	c.255G>T	c.(253-255)ttG>ttT	p.L85F	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.L37F	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	37					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCCCTTGGAACAAGCCCATTG	0.577													8	97					1.26484e-09	1.77122e-09	1	0	A	94423168	C	A	94423168	3	1	336	1	0	0	0	0	1	0	0	0	1027	477	17	4	1684	4	ASB2	14	94423168	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	3964857	94423168	12926372	491	62609											
SERPINA11	256394	broad.mit.edu	37	chr14	94914628	94914628	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaaaagcaaaagctcCataaagctccttgatgctgt	15	8	9	9	0	0	2	0	1	0	1	2	2	2	2	2	1	4	5	2	1	6	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:94914628C>G	ENST00000334708.3	-	2	548	c.484G>C	c.(484-486)Gga>Cga	p.G162R	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	162					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCAAAAGCTCCATAAAGCTCC	0.468													15	232					0	0	0	0	G	94914628	C	G	94914628	3	3	336	1	0	0	0	0	1	0	0	0	14175	603	21	4	800	4	SERPINA11	14	94914628	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	491460	94914628	12434912	492	62610											
SERPINA5	5104	broad.mit.edu	37	chr14	95058508	95058508	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcagaggctagtgttcAacaggccctttctgatgttc	8	13	9	11	0	3	2	2	1	2	1	5	2	3	2	1	2	1	3	1	2	2	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:95058508A>C	ENST00000329597.7	+	6	1363	c.1153A>C	c.(1153-1155)Aac>Cac	p.N385H	SERPINA3_ENST00000553947.1_Intron|SERPINA5_ENST00000554276.1_Missense_Mutation_p.N385H|SERPINA5_ENST00000553780.1_Missense_Mutation_p.N385H|SERPINA5_ENST00000554866.1_Missense_Mutation_p.N385H	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	385					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCTAGTGTTCAACAGGCCCTT	0.552													58	359					0	0	0	0	C	95058508	A	C	95058508	3	2	336	1	0	0	0	0	1	0	0	0	14179	130	5	5	1167	5	SERPINA5	14	95058508	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	143880	95058508	12291032	493	62611											
TRAF3	7187	broad.mit.edu	37	chr14	103369742	103369742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagcgtggacaagagcGcggggcaagtggctcggaac	10	4	19	8	4	0	2	0	0	0	2	1	5	0	4	0	6	3	2	0	6	3	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:103369742G>T	ENST00000560371.1	+	10	1328	c.1111G>T	c.(1111-1113)Gcg>Tcg	p.A371S	TRAF3_ENST00000539721.1_Missense_Mutation_p.A288S|TRAF3_ENST00000392745.2_Missense_Mutation_p.A371S|TRAF3_ENST00000347662.4_Missense_Mutation_p.A346S|TRAF3_ENST00000351691.5_Missense_Mutation_p.A346S	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	371					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GGACAAGAGCGCGGGGCAAGT	0.697													9	51					1.12685e-05	1.36711e-05	1	0	T	103369742	G	T	103369742	3	4	336	1	0	0	0	0	1	0	0	0	16534	1087	38	3	1145	3	TRAF3	14	103369742	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	8311234	103369742	3979798	494	62612											
MKRN3	7681	broad.mit.edu	37	chr15	23812127	23812127	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaatgagcaacaaggccTgcaggtattttgcggaaggc	12	7	14	8	1	0	1	0	1	0	0	0	2	0	2	1	5	4	4	1	5	5	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:23812127T>A	ENST00000314520.3	+	1	1674	c.1198T>A	c.(1198-1200)Tgc>Agc	p.C400S	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Missense_Mutation_p.C160S|MKRN3_ENST00000568945.1_3'UTR	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	400						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CAACAAGGCCTGCAGGTATTT	0.517													19	102					0	0	0	0	A	23812127	T	A	23812127	3	1	336	1	0	0	0	0	1	0	0	0	9677	1580	55	5	1200	5	MKRN3	15	23812127	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08		23812127	78719265	495	62613											
ATP10A	57194	broad.mit.edu	37	chr15	25924662	25924662	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgaccagcgaccaggaGgaaatccagttgagtaagct	12	7	12	10	1	0	2	0	2	0	0	1	5	1	4	3	2	3	4	3	2	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:25924662G>C	ENST00000356865.6	-	21	4437	c.4326C>G	c.(4324-4326)tcC>tcG	p.S1442S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1442					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCGACCAGGAGGAAATCCAGT	0.612													10	41					0	0	0	0	C	25924662	G	C	25924662	2	2	336	1	0	0	0	0	0	0	0	1	1120	987	35	4		4	ATP10A	15	25924662	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2112535	25924662	76606730	496	62614											
AQR	9716	broad.mit.edu	37	chr15	35162966	35162966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagtaccttgtttggtcttCcaatcaatggattgtttcca	10	16	7	8	0	2	0	1	0	1	0	4	1	4	1	3	2	1	3	3	2	4	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:35162966C>A	ENST00000156471.5	-	31	3980	c.3755G>T	c.(3754-3756)gGa>gTa	p.G1252V		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1252						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTTTGGTCTTCCAATCAATGG	0.338													4	35					0.150653	0.152925	1	0	A	35162966	C	A	35162966	3	1	336	1	0	0	0	0	1	0	0	0	837	855	30	2	722	2	AQR	15	35162966	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	9238304	35162966	67368426	497	62615											
C15orf53	400359	broad.mit.edu	37	chr15	38990415	38990415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcagggattggaatctggGagaagatgcttcccttctct	8	12	12	9	0	3	2	1	0	2	2	5	5	4	4	1	3	1	2	1	3	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:38990415G>T	ENST00000318792.1	+	2	219	c.209G>T	c.(208-210)gGa>gTa	p.G70V		NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN	chromosome 15 open reading frame 53	70										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		tggaatctgggAGAAGATGCT	0.493													7	49					8.12818e-05	9.40913e-05	1	0	T	38990415	G	T	38990415	3	4	336	1	0	0	0	0	1	0	0	0	1813	1174	41	2	215	2	C15orf53	15	38990415	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3827449	38990415	63540977	498	62616											
RPAP1	26015	broad.mit.edu	37	chr15	41819207	41819207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccctgcccccacaggagaCcaactggtgggcaagaactc	10	4	12	15	0	0	2	0	0	0	2	1	3	0	2	4	4	3	1	4	4	3	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:41819207C>A	ENST00000304330.4	-	14	1922	c.1806G>T	c.(1804-1806)tgG>tgT	p.W602C	RPAP1_ENST00000561603.1_Missense_Mutation_p.W602C	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	602						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCACAGGAGACCAACTGGTGG	0.547													27	106					9.39395e-14	1.41347e-13	1	0	A	41819207	C	A	41819207	3	1	336	1	0	0	0	0	1	0	0	0	13626	508	18	4	2423	4	RPAP1	15	41819207	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	2828792	41819207	60712185	499	62617											
TRIM69	140691	broad.mit.edu	37	chr15	45059955	45059955	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataaagaaccattgcacatCttacatccacagtaatgagt	17	10	5	9	0	1	2	0	1	1	1	2	2	2	2	2	0	3	2	2	0	6	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:45059955C>T	ENST00000558173.1	+	5	5621	c.876C>T	c.(874-876)atC>atT	p.I292I	TRIM69_ENST00000559390.1_Silent_p.I496I|TRIM69_ENST00000560442.1_Silent_p.I292I|TRIM69_ENST00000561043.1_Silent_p.I259I|TRIM69_ENST00000329464.4_Silent_p.I496I|TRIM69_ENST00000338264.4_Silent_p.I337I|TRIM69_ENST00000558329.1_Silent_p.I275I			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	496					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CATTGCACATCTTACATCCAC	0.353													11	59					0	0	0	0	T	45059955	C	T	45059955	2	4	336	1	0	0	0	0	0	0	0	1	16637	903	32	2		2	TRIM69	15	45059955	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	3240748	45059955	57471437	500	62618											
SEMA6D	80031	broad.mit.edu	37	chr15	48056433	48056433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaagtattcaaaggacGgtttaaggaacagaaaactc	19	8	9	5	1	1	2	1	1	0	1	2	4	1	4	0	3	2	2	0	3	8	4	rs145073310	by1000genomes	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:48056433G>T	ENST00000316364.5	+	11	1467	c.1028G>T	c.(1027-1029)cGg>cTg	p.R343L	SEMA6D_ENST00000537942.1_Missense_Mutation_p.R343L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R343L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R343L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R343L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.R343L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.R343L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R343L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R343L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R343L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R343L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R343L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	343	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTCAAAGGACGGTTTAAGGAA	0.418													8	63					0.0477658	0.0489781	1	0	T	48056433	G	T	48056433	3	4	336	1	0	0	0	0	1	0	0	0	14129	1116	39	3	1066	3	SEMA6D	15	48056433	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2996478	48056433	54474959	501	62619											
SLC12A1	6557	broad.mit.edu	37	chr15	48500287	48500287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccggcagcatcagtgggcCcaaggtcaaccgacccagcc	10	3	11	17	2	2	0	2	0	0	0	2	1	2	0	5	3	3	2	5	3	2	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:48500287C>A	ENST00000396577.3	+	2	586	c.371C>A	c.(370-372)cCc>cAc	p.P124H	SLC12A1_ENST00000561031.1_Missense_Mutation_p.P124H|SLC12A1_ENST00000380993.3_Missense_Mutation_p.P124H|SLC12A1_ENST00000330289.6_Missense_Mutation_p.P124H|SLC12A1_ENST00000558405.1_Missense_Mutation_p.P124H	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	124					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATCAGTGGGCCCAAGGTCAAC	0.478													12	88					0.000151284	0.000174376	1	0	A	48500287	C	A	48500287	3	1	336	1	0	0	0	0	1	0	0	0	14470	623	22	4	373	4	SLC12A1	15	48500287	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	443854	48500287	54031105	502	62620											
MAPK6	5597	broad.mit.edu	37	chr15	52338810	52338810	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtagccatcaagaaaatTgtccttactgatccccagag	14	9	8	10	0	1	4	1	1	0	3	3	4	3	4	4	0	2	1	4	0	5	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:52338810T>C	ENST00000261845.5	+	2	960	c.153T>C	c.(151-153)atT>atC	p.I51I		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	51	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TCAAGAAAATTGTCCTTACTG	0.383													19	112					0	0	0	0	C	52338810	T	C	52338810	2	2	336	1	0	0	0	0	0	0	0	1	9350	1800	63	5		5	MAPK6	15	52338810	Silent	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	3838523	52338810	50192582	503	62621											
WDR72	256764	broad.mit.edu	37	chr15	54006650	54006650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgaatgctgttgatagatGaggaaagatcccatactttg	12	12	10	7	0	0	5	0	3	0	2	1	6	1	6	2	1	2	2	2	1	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:54006650G>A	ENST00000396328.1	-	6	811	c.572C>T	c.(571-573)tCa>tTa	p.S191L	WDR72_ENST00000360509.5_Missense_Mutation_p.S191L|WDR72_ENST00000557913.1_Missense_Mutation_p.S190L|WDR72_ENST00000559418.1_Missense_Mutation_p.S191L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	191										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTGATAGATGAGGAAAGATC	0.338													6	44					0	0	0	0	A	54006650	G	A	54006650	3	1	336	1	0	0	0	0	1	0	0	0	17418	1294	45	2	2796	2	WDR72	15	54006650	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1667840	54006650	48524742	504	62622											
TMEM202	338949	broad.mit.edu	37	chr15	72698952	72698952	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatgcagattatctccAatattccagggccttctttc	8	16	5	12	0	4	1	1	0	3	1	7	1	5	1	3	1	1	1	3	1	3	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:72698952A>T	ENST00000341689.3	+	3	401	c.347A>T	c.(346-348)cAa>cTa	p.Q116L	TMEM202_ENST00000567679.1_Missense_Mutation_p.N31Y	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	116						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GATTATCTCCAATATTCCAGG	0.458													10	62					0	0	0	0	T	72698952	A	T	72698952	3	4	336	1	0	0	0	0	1	0	0	0	16221	130	5	5	357	5	TMEM202	15	72698952	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	18692302	72698952	29832440	505	62623											
LMAN1L	79748	broad.mit.edu	37	chr15	75108779	75108779	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctgcaggccgtgtggtaCacccggggcaggggccatgt	6	6	17	12	2	0	0	0	0	0	0	0	1	0	0	4	6	2	3	4	6	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:75108779C>A	ENST00000309664.5	+	3	481	c.342C>A	c.(340-342)taC>taA	p.Y114*	LMAN1L_ENST00000379709.3_Nonsense_Mutation_p.Y114*	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	114	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCGTGTGGTACACCCGGGGCA	0.672													11	79					5.50884e-06	6.76465e-06	1	0	A	75108779	C	A	75108779	4	1	336	1	0	0	0	0	0	1	0	0	8892	489	17	4	352	4	LMAN1L	15	75108779	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	2409827	75108779	27422613	506	62624											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84683344	84683344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaggaggatctctgagtGgcaatgtttccttgcttttc	8	14	12	7	0	1	2	0	1	1	1	4	5	2	4	1	3	1	3	1	3	1	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:84683344G>T	ENST00000286744.5	+	24	4248	c.4024G>T	c.(4024-4026)Ggc>Tgc	p.G1342C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1342C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1342	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATCTCTGAGTGGCAATGTTTC	0.423													11	104					5.50884e-06	6.76465e-06	1	0	T	84683344	G	T	84683344	3	4	336	1	0	0	0	0	1	0	0	0	276	1348	47	4	4114	4	ADAMTSL3	15	84683344	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	9574565	84683344	17848048	507	62625											
ACAN	176	broad.mit.edu	37	chr15	89391196	89391197	+	Frame_Shift_Ins	INS	-	-	G																															gtgacaaggacagcagcccaINSggggtcaggacctatggcgt																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:89391196_89391197insG	ENST00000439576.2	+	9	2033_2034	c.1659_1660insG	c.(1657-1662)ccgggtfs	p.PG553fs	ACAN_ENST00000561243.1_Frame_Shift_Ins_p.PG553fs|ACAN_ENST00000352105.7_Frame_Shift_Ins_p.PG553fs|ACAN_ENST00000558207.1_Frame_Shift_Ins_p.PG553fs|ACAN_ENST00000559004.1_Frame_Shift_Ins_p.PG553fs	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	553					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACAGCAGCCCAGGGGTCAGGAC	0.574													12	104	---	---	---	---					G	89391197	-	G	89391196	7	5	336	1	0	1	1	0	0	0	0	0	117	175	7	0	1689	0	ACAN	15	89391196	Frame_Shift_Ins	INS	-	TCGA-CV-A45W-01A-11D-A25D-08	4707852	89391196	13140196	508	62626											
RLBP1	6017	broad.mit.edu	37	chr15	89760507	89760507	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccatctcctgcagctctcGcactgcctcctcccgggtct	4	10	7	20	2	3	0	0	0	3	0	7	0	5	0	5	1	3	3	5	1	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:89760507G>A	ENST00000268125.5	-	5	629	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	64					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	TGCAGCTCTCGCACTGCCTCC	0.642													18	87					0	0	0	0	A	89760507	G	A	89760507	4	1	336	1	0	0	0	0	0	1	0	0	13473	1095	38	1	783	1	RLBP1	15	89760507	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	369311	89760507	12770885	509	62627											
OR4F4	26682	broad.mit.edu	37	chr15	102462372	102462372	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttacactagaatgtgcatcCcattttctcagccgtcttat	9	16	5	11	1	2	1	1	0	2	1	4	1	3	1	2	0	3	1	2	0	4	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:102462372C>T	ENST00000326183.3	-	1	926	c.891G>A	c.(889-891)tgG>tgA	p.W297*		NM_001004195.2	NP_001004195.2	Q96R69	OR4F4_HUMAN	olfactory receptor, family 4, subfamily F, member 4	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AATGTGCATCCCATTTTCTCA	0.338													24	457					0	0	0	0	T	102462372	C	T	102462372	4	4	336	1	0	0	0	0	0	1	0	0	11135	624	22	4	30	4	OR4F4	15	102462372	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	12701865	102462372	69020	510	62628											
WDR24	84219	broad.mit.edu	37	chr16	736745	736745	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcagcacctacctaccTggttgcggccaagctctcga	8	8	10	15	2	2	0	1	0	1	0	3	1	2	0	4	3	5	4	4	3	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:736745T>A	ENST00000293883.4	-	3	2090	c.1332_splice	c.e3+1	p.Q444_splice	WDR24_ENST00000248142.6_Splice_Site_p.Q574_splice	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	574										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CCTACCTACCTGGTTGCGGCC	0.652													8	66					0	0	0	0	A	736745	T	A	736745	5	1	336	1	0	0	0	0	0	0	1	0	17377	1594	55	5	1069	5	WDR24	16	736745	Splice_Site	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08		736745	89618008	511	62629											
HN1L	90861	broad.mit.edu	37	chr16	1748969	1748969	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaaggtcctgaacccaccGggaggcaaatccagcatctc	13	5	9	14	1	1	1	0	1	1	0	4	2	3	2	4	3	3	2	4	3	4	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:1748969G>T	ENST00000248098.3	+	5	600	c.543G>T	c.(541-543)ccG>ccT	p.P181P	HN1L_ENST00000382711.5_Silent_p.P165P|HN1L_ENST00000562684.1_Silent_p.P209P|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000382710.4_Silent_p.P169P|HN1L_ENST00000561516.1_3'UTR	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	181						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGAACCCACCGGGAGGCAAAT	0.602													17	80					3.32936e-07	4.28363e-07	1	0	T	1748969	G	T	1748969	2	4	336	1	0	0	0	0	0	0	0	1	7300	1103	39	3		3	HN1L	16	1748969	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1012224	1748969	88605784	512	62630											
CASKIN1	57524	broad.mit.edu	37	chr16	2235157	2235157	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggcgtgacccccgctgccCcggccgccagccatgccgct	4	4	13	20	5	0	1	0	1	0	0	0	1	0	1	8	2	3	2	8	2	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:2235157C>G	ENST00000343516.6	-	12	1286	c.1194G>C	c.(1192-1194)cgG>cgC	p.R398R		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	398	CASK-binding (By similarity).				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCCCGCTGCCCCGGCCGCCAG	0.706													6	19					0	0	0	0	G	2235157	C	G	2235157	2	3	336	1	0	0	0	0	0	0	0	1	2691	610	22	4		4	CASKIN1	16	2235157	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	486188	2235157	88119596	513	62631											
CCNF	899	broad.mit.edu	37	chr16	2482998	2482998	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacctggtggacaaccacGccagtgtgtgggcatgtgcc	8	7	15	11	1	0	0	0	0	0	0	0	2	0	2	4	4	2	1	4	4	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:2482998G>C	ENST00000397066.4	+	3	296	c.208G>C	c.(208-210)Gcc>Ccc	p.A70P		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	70	F-box.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGACAACCACGCCAGTGTGTG	0.607													3	17					0	0	0	0	C	2482998	G	C	2482998	3	2	336	1	0	0	0	0	1	0	0	0	2951	1087	38	3	218	3	CCNF	16	2482998	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	247841	2482998	87871755	514	62632											
SRRM2	23524	broad.mit.edu	37	chr16	2812914	2812914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtcacagacaccacccagGcgcagtcgctctggatcctc	10	6	9	16	2	2	1	1	0	1	1	5	2	3	2	3	2	0	2	3	2	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:2812914G>T	ENST00000301740.8	+	11	2934	c.2385G>T	c.(2383-2385)agG>agT	p.R795S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	795	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CACCACCCAGGCGCAGTCGCT	0.522													24	319					9.57634e-11	1.37927e-10	1	0	T	2812914	G	T	2812914	3	4	336	1	0	0	0	0	1	0	0	0	15259	1194	42	4	2423	4	SRRM2	16	2812914	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	329916	2812914	87541839	515	62633											
MGRN1	23295	broad.mit.edu	37	chr16	4707252	4707253	+	Frame_Shift_Ins	INS	-	-	C																															ctggctccctgcagatacagINSccccaagagcccctcgctac																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:4707252_4707253insC	ENST00000399577.5	+	5	542_543	c.449_450insC	c.(448-450)accfs	p.T150fs	MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.T150fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.T150fs|MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.T150fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.T150fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	150					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TGCAGATACAGCCCCAAGAGCC	0.629													7	82	---	---	---	---					C	4707253	-	C	4707252	7	5	336	1	0	1	1	0	0	0	0	0	9628	971	34	0	467	0	MGRN1	16	4707252	Frame_Shift_Ins	INS	-	TCGA-CV-A45W-01A-11D-A25D-08	1894338	4707252	85647501	516	62634											
GRIN2A	2903	broad.mit.edu	37	chr16	9858458	9858458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtaagaggatgttgtccCtggaatacatagttattgag	13	12	12	4	0	0	3	0	1	0	2	1	5	1	5	1	2	1	3	1	2	5	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:9858458C>T	ENST00000396573.2	-	14	3252	c.2943G>A	c.(2941-2943)caG>caA	p.Q981Q	GRIN2A_ENST00000404927.2_Silent_p.Q981Q|GRIN2A_ENST00000562109.1_Silent_p.Q981Q|GRIN2A_ENST00000535259.1_Silent_p.Q824Q|GRIN2A_ENST00000396575.2_Silent_p.Q981Q|GRIN2A_ENST00000330684.3_Silent_p.Q981Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	981					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATGTTGTCCCTGGAATACAT	0.493													13	96					0	0	0	0	T	9858458	C	T	9858458	2	4	336	1	0	0	0	0	0	0	0	1	6829	680	24	4		4	GRIN2A	16	9858458	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	5151206	9858458	80496295	517	62635											
RRN3	54700	broad.mit.edu	37	chr16	15170451	15170451	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtggaatctgtcccaccAcaagtttgagttgctgtttc	7	14	9	11	1	1	1	0	1	1	0	4	2	3	2	3	1	1	4	3	1	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:15170451A>G	ENST00000198767.6	-	10	905	c.822T>C	c.(820-822)tgT>tgC	p.C274C	RRN3_ENST00000540462.1_Silent_p.C92C|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Silent_p.C244C|RRN3_ENST00000564131.1_Silent_p.C274C|RRN3_ENST00000563559.1_Silent_p.C274C|RRN3_ENST00000327307.7_Silent_p.C241C	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	274					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CTGTCCCACCACAAGTTTGAG	0.368													9	55					0	0	0	0	G	15170451	A	G	15170451	2	3	336	1	0	0	0	0	0	0	0	1	13769	157	6	5		5	RRN3	16	15170451	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	5311993	15170451	75184302	518	62636											
SMG1	23049	broad.mit.edu	37	chr16	18849513	18849513	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacacaaaggcctccagcagCgtcagcagggtctctctgcc	9	7	10	15	1	3	0	1	0	2	0	5	0	4	0	3	2	5	2	3	2	2	1	rs140975518	by1000genomes	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:18849513C>A	ENST00000446231.2	-	45	7648	c.7236G>T	c.(7234-7236)acG>acT	p.T2412T	SMG1_ENST00000389467.3_Silent_p.T2412T			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2412	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCTCCAGCAGCGTCAGCAGGG	0.542													3	21					0.00909568	0.00960694	1	0	A	18849513	C	A	18849513	2	1	336	1	0	0	0	0	0	0	0	1	14883	755	27	3		3	SMG1	16	18849513	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	3679062	18849513	71505240	519	62637											
TMC5	79838	broad.mit.edu	37	chr16	19451506	19451506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaacaatccagactaccccgGcaccaggagcaatccatact	14	5	7	15	1	0	1	0	0	0	1	2	3	2	2	5	2	4	2	5	2	5	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:19451506G>T	ENST00000396229.2	+	3	895	c.146G>T	c.(145-147)gGc>gTc	p.G49V	TMC5_ENST00000381414.4_Missense_Mutation_p.G49V|TMC5_ENST00000542583.2_Missense_Mutation_p.G49V|TMC5_ENST00000541464.1_Missense_Mutation_p.G49V	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	49						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACTACCCCGGCACCAGGAGC	0.493													17	93					7.07596e-05	8.23829e-05	1	0	T	19451506	G	T	19451506	3	4	336	1	0	0	0	0	1	0	0	0	16082	1203	42	4	148	4	TMC5	16	19451506	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	601993	19451506	70903247	520	62638											
IGSF6	10261	broad.mit.edu	37	chr16	21652900	21652900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcttctgttttcataagtGttgttatctttctcctgcaa	7	20	5	9	0	5	0	1	0	4	0	6	0	5	0	1	0	1	4	1	0	3	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:21652900G>T	ENST00000268389.4	-	6	742	c.681C>A	c.(679-681)aaC>aaA	p.N227K	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	227					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TTTCATAAGTGTTGTTATCTT	0.373													4	23					0.00909568	0.00960694	1	0	T	21652900	G	T	21652900	3	4	336	1	0	0	0	0	1	0	0	0	7656	1368	48	4	48	4	IGSF6	16	21652900	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2201394	21652900	68701853	521	62639											
USP31	57478	broad.mit.edu	37	chr16	23091305	23091305	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatggtgccatggtgattgCacacagcatacaggtcatag	11	9	12	9	0	1	1	1	1	0	0	1	1	1	1	1	3	4	3	1	3	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:23091305C>A	ENST00000219689.7	-	13	2137	c.2138G>T	c.(2137-2139)tGc>tTc	p.C713F		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	713					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ATGGTGATTGCACACAGCATA	0.587													8	42					0.000442599	0.000500168	1	0	A	23091305	C	A	23091305	3	1	336	1	0	0	0	0	1	0	0	0	17158	710	25	4	1936	4	USP31	16	23091305	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1438405	23091305	67263448	522	62640											
ERN2	10595	broad.mit.edu	37	chr16	23707243	23707243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtcccgcctgccccgcGgcccagcacgtccttgggat	6	6	12	17	4	0	0	0	0	0	0	2	2	2	1	6	2	2	1	6	2	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:23707243G>T	ENST00000256797.4	-	14	1894	c.1726C>A	c.(1726-1728)Cgc>Agc	p.R576S	ERN2_ENST00000457008.2_Missense_Mutation_p.R476S	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	528	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCTGCCCCGCGGCCCAGCACG	0.637													4	39					0.150653	0.152925	1	0	T	23707243	G	T	23707243	3	4	336	1	0	0	0	0	1	0	0	0	5276	1116	39	3	1234	3	ERN2	16	23707243	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	615938	23707243	66647510	523	62641											
AQP8	343	broad.mit.edu	37	chr16	25228596	25228596	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcaggtggcgagtgtcctgGtacgaacggtttgtgcagcc	6	9	17	9	3	0	0	0	0	0	0	1	2	1	0	2	5	4	4	2	5	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:25228596G>A	ENST00000219660.5	+	2	215	c.90G>A	c.(88-90)tgG>tgA	p.W30*	AQP8_ENST00000566125.1_Nonsense_Mutation_p.W24*	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	30					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GAGTGTCCTGGTACGAACGGT	0.572													27	279					0	0	0	0	A	25228596	G	A	25228596	4	1	336	1	0	0	0	0	0	1	0	0	834	1270	44	4	96	4	AQP8	16	25228596	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1521353	25228596	65126157	524	62642											
HS3ST4	9951	broad.mit.edu	37	chr16	25704371	25704371	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagaaaggagggacccgCgcgctgctggaggcgatccg	9	4	17	11	5	1	1	1	0	0	1	2	5	2	4	2	4	1	2	2	4	2	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:25704371C>G	ENST00000331351.5	+	1	1025	c.633C>G	c.(631-633)cgC>cgG	p.R211R		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	211					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAGGGACCCGCGCGCTGCTGG	0.662													4	21					0	0	0	0	G	25704371	C	G	25704371	2	3	336	1	0	0	0	0	0	0	0	1	7417	755	27	3		3	HS3ST4	16	25704371	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	475775	25704371	64650382	525	62643											
IL4R	3566	broad.mit.edu	37	chr16	27367165	27367165	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgagcagcacctcctgctggGcgtcagcgtttcctgcattg	5	10	12	14	3	1	0	1	0	0	0	3	1	3	0	3	1	5	5	3	1	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:27367165G>C	ENST00000395762.2	+	8	966	c.707G>C	c.(706-708)gGc>gCc	p.G236A	IL4R_ENST00000380922.3_Missense_Mutation_p.G221A|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_Missense_Mutation_p.G236A|IL4R_ENST00000170630.2_Missense_Mutation_p.G236A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	236					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTCCTGCTGGGCGTCAGCGTT	0.617													14	73					0	0	0	0	C	27367165	G	C	27367165	3	2	336	1	0	0	0	0	1	0	0	0	7751	1203	42	4	747	4	IL4R	16	27367165	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1662794	27367165	62987588	526	62644											
GTF3C1	2975	broad.mit.edu	37	chr16	27514201	27514201	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaataaactctcgattaagCgaagattggtgacagcttct	13	12	9	7	2	2	3	0	2	2	1	3	5	2	3	0	1	3	1	0	1	5	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:27514201C>G	ENST00000356183.4	-	11	1901	c.1886G>C	c.(1885-1887)cGc>cCc	p.R629P	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R629P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	629						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTCGATTAAGCGAAGATTGGT	0.488													3	16					0	0	0	0	G	27514201	C	G	27514201	3	3	336	1	0	0	0	0	1	0	0	0	6922	768	27	3	4551	3	GTF3C1	16	27514201	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	147036	27514201	62840552	527	62645											
RNF40	9810	broad.mit.edu	37	chr16	30774845	30774845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccaacatgtgatgggaCtcctctcccagagccgggga	8	6	15	12	1	1	2	0	1	1	1	3	4	2	4	4	5	2	0	4	5	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:30774845C>A	ENST00000324685.6	+	4	842	c.407C>A	c.(406-408)aCt>aAt	p.T136N	RNF40_ENST00000563683.1_Missense_Mutation_p.T136N|RNF40_ENST00000357890.5_Missense_Mutation_p.T136N|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	136					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TGTGATGGGACTCCTCTCCCA	0.617													11	57					4.68919e-08	6.23169e-08	1	0	A	30774845	C	A	30774845	3	1	336	1	0	0	0	0	1	0	0	0	13578	565	20	4	417	4	RNF40	16	30774845	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	3260644	30774845	59579908	528	62646											
ZNF423	23090	broad.mit.edu	37	chr16	49671734	49671734	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagtccaggcagatctgAcatgtgtggctctgctgggg	7	10	16	8	0	2	2	0	1	2	1	3	3	3	3	1	5	1	3	1	5	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:49671734A>T	ENST00000561648.1	-	4	1382	c.1329T>A	c.(1327-1329)tgT>tgA	p.C443*	ZNF423_ENST00000262383.2_Nonsense_Mutation_p.C443*|ZNF423_ENST00000535559.1_Nonsense_Mutation_p.C326*|ZNF423_ENST00000567169.1_Nonsense_Mutation_p.C326*|ZNF423_ENST00000562520.1_Nonsense_Mutation_p.C383*|ZNF423_ENST00000562871.1_Nonsense_Mutation_p.C383*|ZNF423_ENST00000563137.2_Nonsense_Mutation_p.C383*	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	443					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGCAGATCTGACATGTGTGGC	0.572													11	66					0	0	0	0	T	49671734	A	T	49671734	4	4	336	1	0	0	0	0	0	1	0	0	17993	273	10	5	2545	5	ZNF423	16	49671734	Nonsense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	18896889	49671734	40683019	529	62647											
NFAT5	10725	broad.mit.edu	37	chr16	69689631	69689631	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacgaaatacaactccttgCaaagaagtggacattgaagg	16	7	11	7	1	0	2	0	1	0	1	1	5	1	4	1	3	3	1	1	3	6	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:69689631C>A	ENST00000349945.1	+	7	2395	c.843C>A	c.(841-843)tgC>tgA	p.C281*	NFAT5_ENST00000567239.1_Nonsense_Mutation_p.C375*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.C281*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.C375*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.C281*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.C357*	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	357	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAACTCCTTGCAAAGAAGTGG	0.428													13	79					7.93312e-07	1.00312e-06	1	0	A	69689631	C	A	69689631	4	1	336	1	0	0	0	0	0	1	0	0	10430	718	25	4	1147	4	NFAT5	16	69689631	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	20017897	69689631	20665122	530	62648											
HYDIN	54768	broad.mit.edu	37	chr16	71101181	71101181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcaggagaagagcaagctGgggagcaataccttgctgta	13	7	13	8	0	1	2	1	0	0	2	1	4	1	3	1	3	5	5	1	3	5	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:71101181G>T	ENST00000288168.10	-	15	2151	c.2138C>A	c.(2137-2139)cCa>cAa	p.P713Q	HYDIN_ENST00000448089.2_Intron|HYDIN_ENST00000393567.2_Intron|HYDIN_ENST00000321489.5_Intron|HYDIN_ENST00000393550.2_Intron|HYDIN_ENST00000541601.1_Intron|HYDIN_ENST00000538248.1_Intron|HYDIN_ENST00000448691.1_Intron			Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	696										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGAGCAAGCTGGGGAGCAATA	0.587													5	25					0.000602214	0.000673014	1	0	T	71101181	G	T	71101181	3	4	336	1	0	0	0	0	1	0	0	0	7520	1363	47	4		4	HYDIN	16	71101181	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1411550	71101181	19253572	531	62649											
WDR59	79726	broad.mit.edu	37	chr16	74972149	74972149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcggctagatattccaCtgctgtactgggtttctgca	6	13	13	9	1	1	1	0	0	1	1	2	1	2	1	1	3	3	5	1	3	3	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:74972149C>A	ENST00000262144.6	-	8	680	c.550G>T	c.(550-552)Gtg>Ttg	p.V184L		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	184										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AGATATTCCACTGCTGTACTG	0.463													20	88					7.41877e-09	1.01428e-08	1	0	A	74972149	C	A	74972149	3	1	336	1	0	0	0	0	1	0	0	0	17404	565	20	4	2450	4	WDR59	16	74972149	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	3870968	74972149	15382604	532	62650											
CNTNAP4	85445	broad.mit.edu	37	chr16	76486632	76486632	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaacttaagtcgaatctctaCcagccaggaaaattacccag	16	8	6	11	1	1	0	0	0	1	0	3	2	1	1	3	1	4	0	3	1	7	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:76486632C>A	ENST00000307431.8	+	9	1681	c.1296C>A	c.(1294-1296)taC>taA	p.Y432*	CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.Y360*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.Y384*|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.Y436*	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	433	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CGAATCTCTACCAGCCAGGAA	0.433													6	27					0.00116845	0.00129152	1	0	A	76486632	C	A	76486632	4	1	336	1	0	0	0	0	0	1	0	0	3679	518	18	4	1342	4	CNTNAP4	16	76486632	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1514483	76486632	13868121	533	62651											
DPEP1	1800	broad.mit.edu	37	chr16	89703741	89703741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactcctcggcctacagcGtgtgcgcaagccggcgcaac	7	5	12	17	5	0	0	0	0	0	0	2	0	1	0	4	2	5	2	4	2	3	1	rs148240484	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:89703741G>A	ENST00000393092.3	+	7	1012	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	DPEP1_ENST00000261615.4_Missense_Mutation_p.V241M|DPEP1_ENST00000421184.1_Missense_Mutation_p.V241M	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	241					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GGCCTACAGCGTGTGCGCAAG	0.687													11	34					0	0	0	0	A	89703741	G	A	89703741	3	1	336	1	0	0	0	0	1	0	0	0	4749	1145	40	1	743	1	DPEP1	16	89703741	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	13217109	89703741	651012	534	62652											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840777	1840777	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcgggtgccagcgtccgCagctgccggttgtcgccgag	3	8	16	14	6	1	0	0	0	1	0	4	1	2	0	4	2	4	3	4	2	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:1840777C>T	ENST00000331238.5	-	2	357	c.339G>A	c.(337-339)ctG>ctA	p.L113L		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	113					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CCAGCGTCCGCAGCTGCCGGT	0.642													10	36					0	0	0	0	T	1840777	C	T	1840777	2	4	336	1	0	0	0	0	0	0	0	1	13816	697	25	4		4	RTN4RL1	17	1840777	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08		1840777	79354433	535	62653											
MINK1	50488	broad.mit.edu	37	chr17	4797380	4797380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgggggcggcaccatggtgGtccagcgcgtgagtgagcct	6	6	18	11	4	0	2	0	2	0	0	1	2	1	2	3	5	2	1	3	5	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:4797380G>A	ENST00000355280.6	+	22	2858	c.2662G>A	c.(2662-2664)Gtc>Atc	p.V888I	MINK1_ENST00000347992.7_Missense_Mutation_p.V859I|MINK1_ENST00000453408.3_Missense_Mutation_p.V868I	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	888	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CACCATGGTGGTCCAGCGCGT	0.657													10	34					0	0	0	0	A	4797380	G	A	4797380	3	1	336	1	0	0	0	0	1	0	0	0	9656	1261	44	4	2515	4	MINK1	17	4797380	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2956603	4797380	76397830	536	62654											
AIPL1	23746	broad.mit.edu	37	chr17	6329146	6329146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcacgtagtaggccttcacGatgcctgtggggagcaggga	8	7	16	10	3	1	0	1	0	0	0	1	3	1	2	2	4	2	4	2	4	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:6329146G>A	ENST00000381129.3	-	6	869	c.789C>T	c.(787-789)atC>atT	p.I263I	AIPL1_ENST00000250087.5_Silent_p.I200I|AIPL1_ENST00000576776.1_Silent_p.I239I|AIPL1_ENST00000574506.1_Silent_p.I251I|AIPL1_ENST00000576307.1_Silent_p.I203I|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000570466.1_Silent_p.I241I	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	263					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		AGGCCTTCACGATGCCTGTGG	0.657													9	16					0	0	0	0	A	6329146	G	A	6329146	2	1	336	1	0	0	0	0	0	0	0	1	436	1048	37	1		1	AIPL1	17	6329146	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1531766	6329146	74866064	537	62655											
TP53	7157	broad.mit.edu	37	chr17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctccctgggggcagctCgtggtgaggctcccctttct	3	11	14	13	1	1	1	0	1	1	0	4	1	3	1	3	4	2	4	3	4	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGGGCAGCTCGTGGTGAGGC	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	49					9.31168e-06	1.13653e-05	1	0	A	7577046	C	A	7577046	4	1	336	1	0	0	0	0	0	1	0	0	16476	893	31	3	394	3	TP53	17	7577046	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1247900	7577046	73618164	538	62656											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	27					0	0	0	0	C	7578190	T	C	7578190	3	2	336	1	0	0	0	0	1	0	0	0	16476	1406	49	5	635	5	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	1144	7578190	73617020	539	62657											
DNAH2	146754	broad.mit.edu	37	chr17	7702036	7702036	+	Splice_Site	SNP	G	G	T																															aagcctgatgaatttgaagaGgtaggattccttccacaccc																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:7702036G>T	ENST00000572933.1	+	55	10019	c.8559_splice	c.e55+1	p.E2853_splice	DNAH2_ENST00000389173.2_Splice_Site_p.E2853_splice			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2853	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AATTTGAAGAGGTAGGATTCC	0.532													8	70					0.000274275	0.000311256	1	0	T	7702036	G	T	7702036	5	4	336	1	0	0	0	0	0	0	1	0	4639	1014	35	4	8773	4	DNAH2	17	7702036	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	123846	7702036	73493174	540	62658	750	2									
DNAH2	146754	broad.mit.edu	37	chr17	7702037	7702037	+	Splice_Site	SNP	G	G	T																															agcctgatgaatttgaagagGtaggattccttccacaccct																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:7702037G>T	ENST00000572933.1	+	55	10019		c.e55+1		DNAH2_ENST00000389173.2_Splice_Site			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTTGAAGAGGTAGGATTCCT	0.537													8	71					0.000274275	0.000311256	1	0	T	7702037	G	T	7702037	5	4	336	1	0	0	0	0	0	0	1	0	4639	1275	44	4	8774	4	DNAH2	17	7702037	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1	7702037	73493173	541	62659	750	2									
PFAS	5198	broad.mit.edu	37	chr17	8159848	8159848	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtatgtccacagtgcaatCcagggaaaggaagtccgatt	12	8	13	8	1	0	0	0	0	0	0	3	3	3	2	3	3	1	2	3	3	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:8159848C>A	ENST00000314666.6	+	8	961	c.828C>A	c.(826-828)atC>atA	p.I276I	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	276					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACAGTGCAATCCAGGGAAAGG	0.602													14	53					1.49906e-05	1.79976e-05	1	0	A	8159848	C	A	8159848	2	1	336	1	0	0	0	0	0	0	0	1	11826	845	30	2		2	PFAS	17	8159848	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	457811	8159848	73035362	542	62660											
CDRT1	374286	broad.mit.edu	37	chr17	15498141	15498141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggccatcagtgcttcCtgagaggagatgccactggt	9	8	13	11	0	1	2	1	1	0	2	2	5	2	2	4	3	2	1	4	3	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:15498141C>T	ENST00000455584.2	-	16	2741	c.2698G>A	c.(2698-2700)Gga>Aga	p.G900R	CDRT1_ENST00000395906.3_Missense_Mutation_p.G590R|CDRT1_ENST00000583965.1_Intron|CDRT1_ENST00000354433.3_Missense_Mutation_p.G90R																							TCAGTGCTTCCTGAGAGGAGA	0.557													5	46					0	0	0	0	T	15498141	C	T	15498141	3	4	336	1	0	0	0	0	1	0	0	0	3203	690	24	4	502	4	CDRT1	17	15498141	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	7338293	15498141	65697069	543	62661											
MYO15A	51168	broad.mit.edu	37	chr17	18034650	18034650	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtttgtggaaatctttcTggaagggtgagttgggacag	10	12	16	3	0	2	1	0	1	2	0	2	5	2	4	0	4	0	2	0	4	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:18034650T>C	ENST00000205890.5	+	9	4474	c.4136T>C	c.(4135-4137)cTg>cCg	p.L1379P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1379	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAAATCTTTCTGGAAGGGTGA	0.567													9	42					0	0	0	0	C	18034650	T	C	18034650	3	2	336	1	0	0	0	0	1	0	0	0	10133	1580	55	5	4162	5	MYO15A	17	18034650	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	2536509	18034650	63160560	544	62662											
AKAP10	11216	broad.mit.edu	37	chr17	19843111	19843111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctgagactggaagttatCtgctgccaaccagaattgta	13	10	10	8	0	1	2	0	1	1	2	1	4	1	3	2	1	4	4	2	1	6	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:19843111C>T	ENST00000225737.6	-	8	1394	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	AKAP10_ENST00000395536.3_Missense_Mutation_p.D413N	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	413	RGS 2.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TGGAAGTTATCTGCTGCCAAC	0.373													7	47					0	0	0	0	T	19843111	C	T	19843111	3	4	336	1	0	0	0	0	1	0	0	0	446	913	32	2	783	2	AKAP10	17	19843111	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1808461	19843111	61352099	545	62663											
MAP2K3	5606	broad.mit.edu	37	chr17	21201752	21201752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaggaagaaggatctacGgatatcctgcatgtccaagc	14	7	11	9	1	1	2	0	0	1	2	3	5	3	5	2	3	3	1	2	3	6	2	rs144032462	by1000genomes	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:21201752G>A	ENST00000342679.4	+	2	326	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	26			R -> T.		activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AAGGATCTACGGATATCCTGC	0.557													19	184					0	0	0	0	A	21201752	G	A	21201752	3	1	336	1	0	0	0	0	1	0	0	0	9307	1116	39	1	83	1	MAP2K3	17	21201752	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1358641	21201752	59993458	546	62664											
KSR1	8844	broad.mit.edu	37	chr17	25904583	25904583	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggccaaggtgaaggagacGctgcggcgctgtggggccag	8	4	20	9	3	0	2	0	1	0	1	0	4	0	2	2	6	1	2	2	6	2	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:25904583G>T	ENST00000398988.3	+	4	472	c.27G>T	c.(25-27)acG>acT	p.T9T	KSR1_ENST00000268763.6_Silent_p.T9T|KSR1_ENST00000319524.6_Silent_p.T146T|KSR1_ENST00000509603.2_Silent_p.T146T	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	144					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TGAAGGAGACGCTGCGGCGCT	0.657													3	16					1.024e-07	1.34974e-07	1	0	T	25904583	G	T	25904583	2	4	336	1	0	0	0	0	0	0	0	1	8634	1074	38	3		3	KSR1	17	25904583	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	4702831	25904583	55290627	547	62665											
SPAG5	10615	broad.mit.edu	37	chr17	26905515	26905515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccgcacgccgaagtgagCgggtaaggtgggtcacctcc	7	7	14	13	4	2	1	1	1	1	0	4	2	3	1	4	3	1	2	4	3	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:26905515C>A	ENST00000321765.5	-	21	3562	c.3230G>T	c.(3229-3231)cGc>cTc	p.R1077L		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1077					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CCGAAGTGAGCGGGTAAGGTG	0.547													18	95					1.01871e-10	1.45943e-10	1	0	A	26905515	C	A	26905515	3	1	336	1	0	0	0	0	1	0	0	0	15071	768	27	3	367	3	SPAG5	17	26905515	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1000932	26905515	54289695	548	62666											
GAS2L2	246176	broad.mit.edu	37	chr17	34072475	34072475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggggtaacagctggcttagGggagccagtcggggctgcct	6	8	18	9	1	0	0	0	0	0	0	1	1	0	1	2	7	4	4	2	7	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:34072475G>T	ENST00000254466.6	-	6	2068	c.2041C>A	c.(2041-2043)Cct>Act	p.P681T	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P665T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	681					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTGGCTTAGGGGAGCCAGTC	0.607													20	205					1.33834e-09	1.87089e-09	1	0	T	34072475	G	T	34072475	3	4	336	1	0	0	0	0	1	0	0	0	6296	1232	43	4	605	4	GAS2L2	17	34072475	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	7166960	34072475	47122735	549	62667											
DDX52	11056	broad.mit.edu	37	chr17	35992314	35992314	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtgaattttgtgtttattCcgcaagaagtttatctgaaa	12	16	8	5	2	1	3	0	2	1	1	2	3	2	3	1	0	0	3	1	0	6	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:35992314C>A	ENST00000349699.2	-	4	475	c.432G>T	c.(430-432)cgG>cgT	p.R144R	DDX52_ENST00000394367.3_Silent_p.R36R	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	144						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TGTGTTTATTCCGCAAGAAGT	0.373													15	109					8.60227e-14	1.29676e-13	1	0	A	35992314	C	A	35992314	2	1	336	1	0	0	0	0	0	0	0	1	4402	842	30	2		2	DDX52	17	35992314	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1919839	35992314	45202896	550	62668											
KRT13	3860	broad.mit.edu	37	chr17	39659320	39659320	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctccacgttgacctggcCgaccacctggttgctaaatt	8	11	8	14	2	1	1	0	1	1	0	2	2	1	1	5	2	1	3	5	2	2	4	rs140780704	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:39659320C>G	ENST00000246635.3	-	4	812	c.766G>C	c.(766-768)Ggc>Cgc	p.G256R	KRT13_ENST00000336861.3_Missense_Mutation_p.G256R|KRT13_ENST00000587544.1_Missense_Mutation_p.G256R	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	256	Linker 12.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TTGACCTGGCCGACCACCTGG	0.587													75	314					0	0	0	0	G	39659320	C	G	39659320	3	3	336	1	0	0	0	0	1	0	0	0	8502	652	23	3	630	3	KRT13	17	39659320	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	3667006	39659320	41535890	551	62669											
GHDC	84514	broad.mit.edu	37	chr17	40342251	40342251	+	Frame_Shift_Del	DEL	A	A	-																															ctcagccccctcagcgccacAaacacctcgtagtggggagc																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:40342251delA	ENST00000301671.8	-	8	1767	c.1326delT	c.(1324-1326)ttfs	p.F442fs	GHDC_ENST00000414034.3_Frame_Shift_Del_p.L472fs|GHDC_ENST00000428494.2_Frame_Shift_Del_p.F403fs|GHDC_ENST00000593209.1_Frame_Shift_Del_p.F442fs|GHDC_ENST00000587427.1_Frame_Shift_Del_p.F442fs|GHDC_ENST00000436923.2_Frame_Shift_Del_p.L472fs			Q8N2G8	GHDC_HUMAN	GH3 domain containing	442						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCAGCGCCACAAACACCTCGT	0.547													14	169	---	---	---	---					-	40342251	A	-	40342251	7	5	336	1	0	1	0	1	0	0	0	0	6420	131	5	0	274	0	GHDC	17	40342251	Frame_Shift_Del	DEL	A	TCGA-CV-A45W-01A-11D-A25D-08	682931	40342251	40852959	552	62670											
ITGB3	3690	broad.mit.edu	37	chr17	45361915	45361915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaaggatgatctgtggagCatccagaacctgggtaccaa	13	8	12	8	0	1	3	0	2	1	1	2	5	2	5	3	3	3	2	3	3	4	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:45361915C>T	ENST00000560629.1	+	4	433	c.433C>T	c.(433-435)Cat>Tat	p.H145Y	ITGB3_ENST00000559488.1_Silent_p.S156S|ITGB3_ENST00000435993.2_Silent_p.S109S|ITGB3_ENST00000571680.1_Silent_p.S156S			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0	VWFA.		D -> N (in GT).|D -> Y (in GT; type B).		activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	ATCTGTGGAGCATCCAGAACC	0.527													13	108					0	0	0	0	T	45361915	C	T	45361915	3	4	336	1	0	0	0	0	1	0	0	0	7948	709	25	4	482	4	ITGB3	17	45361915	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	5019664	45361915	35833295	553	62671											
ITGB3	3690	broad.mit.edu	37	chr17	45368460	45368460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagattggagacacggtgagGtgggctgggcagggcctttg	8	8	19	6	1	0	3	0	1	0	2	0	4	0	3	1	6	0	2	1	6	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:45368460G>T	ENST00000571680.1	+	9	1275	c.1266G>T	c.(1264-1266)agG>agT	p.R422S	ITGB3_ENST00000559488.1_Intron|ITGB3_ENST00000435993.2_Intron|ITGB3_ENST00000560629.1_Intron			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	422					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	ACACGGTGAGGTGGGCTGGGC	0.517													20	85					4.96729e-08	6.56885e-08	1	0	T	45368460	G	T	45368460	3	4	336	1	0	0	0	0	1	0	0	0	7948	1276	44	4		4	ITGB3	17	45368460	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	6545	45368460	35826750	554	62672											
TBX21	30009	broad.mit.edu	37	chr17	45821647	45821647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccagaggcagcctgcaaCgcttccaacacgcatatctt	11	7	9	14	2	1	1	0	0	1	1	2	2	2	1	3	1	5	4	3	1	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:45821647C>T	ENST00000177694.1	+	4	1066	c.855C>T	c.(853-855)aaC>aaT	p.N285N		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	285					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGCCTGCAACGCTTCCAACA	0.562													9	108					0	0	0	0	T	45821647	C	T	45821647	2	4	336	1	0	0	0	0	0	0	0	1	15751	535	19	1		1	TBX21	17	45821647	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	453187	45821647	35373563	555	62673											
COL1A1	1277	broad.mit.edu	37	chr17	48273984	48273984	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagcctcttaccttaggAccagcaggaccagcatctcc	11	7	8	15	0	2	1	0	0	2	1	3	3	2	3	5	2	4	2	5	2	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:48273984A>T	ENST00000225964.5	-	12	970	c.852T>A	c.(850-852)ggT>ggA	p.G284G		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	284	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TTACCTTAGGACCAGCAGGAC	0.507			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						34	289					0	0	0	0	T	48273984	A	T	48273984	2	4	336	1	0	0	0	0	0	0	0	1	3707	262	10	5		5	COL1A1	17	48273984	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	2452337	48273984	32921226	556	62674											
MTMR4	9110	broad.mit.edu	37	chr17	56584607	56584607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaccaggtactcatcatCagcattgcgccagccccacc	9	7	8	17	2	3	1	3	1	0	0	3	1	3	1	5	1	4	2	5	1	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:56584607C>A	ENST00000323456.5	-	9	863	c.739G>T	c.(739-741)Gat>Tat	p.D247Y	MTMR4_ENST00000579925.1_Missense_Mutation_p.D247Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	247	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACTCATCATCAGCATTGCGC	0.592													12	61					6.40141e-05	7.46369e-05	1	0	A	56584607	C	A	56584607	3	1	336	1	0	0	0	0	1	0	0	0	10016	826	29	2	2892	2	MTMR4	17	56584607	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	8310623	56584607	24610603	557	62675											
TEX14	56155	broad.mit.edu	37	chr17	56700249	56700249	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtcaaagcccaagtctTcgggttttgacccctctcat	7	13	8	13	1	3	1	2	1	2	0	5	1	3	1	3	1	2	2	3	1	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:56700249T>A	ENST00000389934.3	-	4	493	c.376A>T	c.(376-378)Aag>Tag	p.K126*	TEX14_ENST00000240361.8_Nonsense_Mutation_p.K126*|TEX14_ENST00000349033.5_Nonsense_Mutation_p.K126*	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	126						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCCAAGTCTTCGGGTTTTGA	0.552													6	102					0	0	0	0	A	56700249	T	A	56700249	4	1	336	1	0	0	0	0	0	1	0	0	15872	1792	62	5	4219	5	TEX14	17	56700249	Nonsense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	115642	56700249	24494961	558	62676											
CLTC	1213	broad.mit.edu	37	chr17	57758312	57758312	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagactcaggaccctgaaGaagtgtcagtaactgtaaag	14	8	11	8	0	2	3	2	2	0	2	2	5	2	4	1	1	1	2	1	1	5	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:57758312G>T	ENST00000269122.3	+	19	3233	c.2959G>T	c.(2959-2961)Gaa>Taa	p.E987*	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Nonsense_Mutation_p.E987*	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	987	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGACCCTGAAGAAGTGTCAGT	0.393			T	"ALK, TFE3"	"ALCL, renal "								12	173					5.50884e-06	6.76465e-06	1	0	T	57758312	G	T	57758312	4	4	336	1	0	0	0	0	0	1	0	0	3596	943	33	2	3033	2	CLTC	17	57758312	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1058063	57758312	23436898	559	62677											
SOX9	6662	broad.mit.edu	37	chr17	70118979	70118979	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcggaggaagtcggtgaagaAcgggcaggcggaggcagagg	11	2	22	6	4	0	3	0	1	0	2	1	6	0	6	0	8	1	2	0	8	3	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:70118979A>T	ENST00000245479.2	+	2	923	c.551A>T	c.(550-552)aAc>aTc	p.N184I		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	184					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			TCGGTGAAGAACGGGCAGGCG	0.672													13	81					0	0	0	0	T	70118979	A	T	70118979	3	4	336	1	0	0	0	0	1	0	0	0	15046	43	2	5	557	5	SOX9	17	70118979	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	12360667	70118979	11076231	560	62678											
CANT1	124583	broad.mit.edu	37	chr17	76993495	76993495	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttgtgtgcattgtgggtGgggggcctgccgggggccgg	2	9	22	8	2	0	0	0	0	0	0	0	0	0	0	3	7	2	2	3	7	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:76993495G>A	ENST00000302345.2	-	2	704	c.210C>T	c.(208-210)ccC>ccT	p.P70P	CANT1_ENST00000392446.5_Silent_p.P70P|CANT1_ENST00000591773.1_Silent_p.P70P	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	70					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CATTGTGGGTGGGGGGCCTGC	0.672			T	ETV4	prostate								29	88					0	0	0	0	A	76993495	G	A	76993495	2	1	336	1	0	0	0	0	0	0	0	1	2642	1335	47	4		4	CANT1	17	76993495	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	6874516	76993495	4201715	561	62679											
CLUL1	27098	broad.mit.edu	37	chr18	641463	641463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgcctatctggtggagaaGatgagagggcaatttggctg	10	9	15	7	1	1	3	0	1	1	3	1	5	1	3	2	4	0	2	2	4	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:641463G>A	ENST00000581619.1	+	7	2053	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	CLUL1_ENST00000540035.1_Silent_p.K429K|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000400606.2_Silent_p.K377K|CLUL1_ENST00000338387.7_Silent_p.K377K|CLUL1_ENST00000579494.1_Silent_p.K377K			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	377					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TGGTGGAGAAGATGAGAGGGC	0.502													11	97					0	0	0	0	A	641463	G	A	641463	2	1	336	1	0	0	0	0	0	0	0	1	3600	933	33	2		2	CLUL1	18	641463	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08		641463	77435785	562	62680											
PTPRM	5797	broad.mit.edu	37	chr18	8244165	8244165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagggcacaaactgcgacGaggctttctcattcatggac	11	8	11	11	2	2	0	2	0	1	0	3	3	2	1	0	3	3	3	0	3	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:8244165G>A	ENST00000332175.8	+	15	3447	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	PTPRM_ENST00000444013.1_Missense_Mutation_p.E591K|PTPRM_ENST00000400053.4_Missense_Mutation_p.E742K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E804K|PTPRM_ENST00000580170.1_Missense_Mutation_p.E804K	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	804					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AAACTGCGACGAGGCTTTCTC	0.483													10	110					0	0	0	0	A	8244165	G	A	8244165	3	1	336	1	0	0	0	0	1	0	0	0	12888	1059	37	1	2468	1	PTPRM	18	8244165	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	7602702	8244165	69833083	563	62681											
DSC1	1823	broad.mit.edu	37	chr18	28725621	28725621	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgatgacaccggtatctgGgtgtatggagaaatgctttg	9	12	15	5	1	1	3	0	2	1	1	1	4	1	3	1	4	1	3	1	4	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:28725621G>C	ENST00000257197.3	-	7	1153	c.892C>G	c.(892-894)Cca>Gca	p.P298A	DSC1_ENST00000257198.5_Missense_Mutation_p.P298A|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	298	Cadherin 2.				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)			CCGGTATCTGGGTGTATGGAG	0.388													11	108					0	0	0	0	C	28725621	G	C	28725621	3	2	336	1	0	0	0	0	1	0	0	0	4801	1232	43	4	1872	4	DSC1	18	28725621	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	20481456	28725621	49351627	564	62682											
KLHL14	57565	broad.mit.edu	37	chr18	30260292	30260292	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccattgtgtacacccccTgtgaaataaacatagacata	14	11	5	11	0	1	2	0	1	1	1	2	2	1	2	3	0	2	1	3	0	6	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:30260292T>C	ENST00000359358.4	-	7	1868		c.e7-2			NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14							cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTACACCCCCTGTGAAATAAA	0.393													16	147					0	0	0	0	C	30260292	T	C	30260292	5	2	336	1	0	0	0	0	0	0	1	0	8422	1594	55	5	470	5	KLHL14	18	30260292	Splice_Site	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	1534671	30260292	47816956	565	62683											
NOL4	8715	broad.mit.edu	37	chr18	31538379	31538379	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctggagtaactatgtgcagGagactgaaaagagaaggtga	15	7	15	4	0	0	4	0	2	0	2	0	7	0	5	0	3	2	3	0	3	5	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:31538379G>C	ENST00000261592.5	-	7	1357	c.1060C>G	c.(1060-1062)Cct>Gct	p.P354A	NOL4_ENST00000538587.1_Missense_Mutation_p.P280A|NOL4_ENST00000589544.1_Missense_Mutation_p.P354A|NOL4_ENST00000269185.4_Missense_Mutation_p.P240A|NOL4_ENST00000535475.1_Missense_Mutation_p.P199A|NOL4_ENST00000535384.1_Missense_Mutation_p.P69A	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	354						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTATGTGCAGGAGACTGAAAA	0.383													13	112					0	0	0	0	C	31538379	G	C	31538379	3	2	336	1	0	0	0	0	1	0	0	0	10594	1174	41	2	876	2	NOL4	18	31538379	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1278087	31538379	46538869	566	62684											
SETBP1	26040	broad.mit.edu	37	chr18	42281446	42281446	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctctccactccaggacctggGaaggggatcccggtgggcgg	6	6	16	13	2	1	0	0	0	1	0	4	3	3	3	4	7	0	0	4	7	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:42281446G>C	ENST00000282030.5	+	2	431	c.135G>C	c.(133-135)ggG>ggC	p.G45G	SETBP1_ENST00000426838.4_Silent_p.G45G	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	45						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAGGACCTGGGAAGGGGATCC	0.627									Schinzel-Giedion syndrome				4	42					0	0	0	0	C	42281446	G	C	42281446	2	2	336	1	0	0	0	0	0	0	0	1	14216	1161	41	2		2	SETBP1	18	42281446	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	10743067	42281446	35795802	567	62685											
TCEB3B	51224	broad.mit.edu	37	chr18	44561303	44561303	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtcgcgttttctgggaaGccccaggccttttcctggtc	3	12	12	14	3	1	0	0	0	1	0	4	1	2	1	5	3	1	1	5	3	1	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:44561303G>T	ENST00000332567.4	-	1	685	c.333C>A	c.(331-333)ggC>ggA	p.G111G	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	111					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTCTGGGAAGCCCCAGGCCT	0.657													12	80					1.5842e-08	2.14052e-08	1	0	T	44561303	G	T	44561303	2	4	336	1	0	0	0	0	0	0	0	1	15776	958	34	4		4	TCEB3B	18	44561303	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2279857	44561303	33515945	568	62686											
DCC	1630	broad.mit.edu	37	chr18	51052998	51052998	+	Missense_Mutation	SNP	C	C	A																															ctatttcagggcccactcttCctaagacccatgtgaaaaca																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:51052998C>A	ENST00000442544.2	+	28	4739	c.4123C>A	c.(4123-4125)Cct>Act	p.P1375T	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.P1008T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1375			P -> H (in a colorectal carcinoma).		apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCCACTCTTCCTAAGACCCA	0.458													11	74					1.05317e-09	1.4851e-09	1	0	A	51052998	C	A	51052998	3	1	336	1	0	0	0	0	1	0	0	0	4314	855	30	2	4233	2	DCC	18	51052998	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	6491695	51052998	27024250	569	62687	751	2									
DCC	1630	broad.mit.edu	37	chr18	51052999	51052999	+	Missense_Mutation	SNP	C	C	A																															tatttcagggcccactcttcCtaagacccatgtgaaaacag																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:51052999C>A	ENST00000442544.2	+	28	4740	c.4124C>A	c.(4123-4125)cCt>cAt	p.P1375H	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.P1008H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1375			P -> H (in a colorectal carcinoma).		apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCCACTCTTCCTAAGACCCAT	0.458													11	73					1.05317e-09	1.4851e-09	1	0	A	51052999	C	A	51052999	3	1	336	1	0	0	0	0	1	0	0	0	4314	681	24	4	4234	4	DCC	18	51052999	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1	51052999	27024249	570	62688	751	2									
ONECUT2	9480	broad.mit.edu	37	chr18	55103312	55103312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acggcggcgactaccggcccGagctctccatcccgctgcac	6	5	11	19	6	1	0	0	0	1	0	3	2	2	0	4	3	3	3	4	3	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:55103312G>C	ENST00000491143.2	+	1	396	c.364G>C	c.(364-366)Gag>Cag	p.E122Q		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	122					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CTACCGGCCCGAGCTCTCCAT	0.701													7	21					0	0	0	0	C	55103312	G	C	55103312	3	2	336	1	0	0	0	0	1	0	0	0	10940	1059	37	3	366	3	ONECUT2	18	55103312	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	4050313	55103312	22973936	571	62689											
CDH20	28316	broad.mit.edu	37	chr18	59195439	59195439	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggacccagatgtgacCaacaactcaatcaggttttt	13	9	8	11	0	2	2	2	1	0	1	2	3	2	3	3	2	2	1	3	2	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:59195439C>G	ENST00000262717.4	+	7	1655	c.1257C>G	c.(1255-1257)acC>acG	p.T419T	CDH20_ENST00000538374.1_Silent_p.T419T|CDH20_ENST00000536675.2_Silent_p.T419T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	419	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAGATGTGACCAACAACTCAA	0.433													33	176					0	0	0	0	G	59195439	C	G	59195439	2	3	336	1	0	0	0	0	0	0	0	1	3135	581	21	4		4	CDH20	18	59195439	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	4092127	59195439	18881809	572	62690											
KDSR	2531	broad.mit.edu	37	chr18	61018124	61018125	+	Frame_Shift_Ins	INS	-	-	A																															tgaatacaacttttacctccINSatctgcaaagcttctgccaa																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:61018124_61018125insA	ENST00000406396.3	-	6	996_997	c.605_606insT	c.(604-606)agafs	p.R202fs	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	202					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CTTTTACCTCCATCTGCAAAGC	0.406													27	111	---	---	---	---					A	61018125	-	A	61018124	7	5	336	1	0	1	1	0	0	0	0	0	8192	594	21	0	412	0	KDSR	18	61018124	Frame_Shift_Ins	INS	-	TCGA-CV-A45W-01A-11D-A25D-08	1822685	61018124	17059124	573	62691											
DSEL	92126	broad.mit.edu	37	chr18	65180863	65180863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tataattggaatctgctataCccacagttctttggaagcca	12	13	7	9	0	2	0	0	0	2	0	2	2	2	2	2	2	3	2	2	2	6	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:65180863C>A	ENST00000310045.7	-	2	2486	c.1013G>T	c.(1012-1014)gGt>gTt	p.G338V	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	328						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ATCTGCTATACCCACAGTTCT	0.373													11	74					0.000978159	0.00108714	1	0	A	65180863	C	A	65180863	3	1	336	1	0	0	0	0	1	0	0	0	4811	507	18	4	2659	4	DSEL	18	65180863	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	4162739	65180863	12896385	574	62692											
ATP9B	374868	broad.mit.edu	37	chr18	77108131	77108131	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgggctctctctccaGgctgtgttttcctcagtctt	2	17	10	12	0	5	0	1	0	4	0	8	0	6	0	2	2	0	3	2	2	0	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:77108131G>A	ENST00000426216.2	+	25	2855		c.e25-1		ATP9B_ENST00000307671.7_Splice_Site|ATP9B_ENST00000543761.1_Splice_Site	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B						ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TCTCTCTCCAGGCTGTGTTTT	0.562													10	86					0	0	0	0	A	77108131	G	A	77108131	5	1	336	1	0	0	0	0	0	0	1	0	1203	1014	35	4	2936	4	ATP9B	18	77108131	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	11927268	77108131	969117	575	62693											
APC2	10297	broad.mit.edu	37	chr19	1460307	1460307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaacctcacctttggggaCgttgccaacaaggtgcccgg	9	7	11	14	2	1	0	1	0	0	0	1	1	1	1	5	4	4	1	5	4	3	2	rs150932990		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:1460307C>A	ENST00000535453.1	+	10	3144	c.1431C>A	c.(1429-1431)gaC>gaA	p.D477E	APC2_ENST00000238483.4_Missense_Mutation_p.D203E|APC2_ENST00000233607.2_Missense_Mutation_p.D477E|CTB-25B13.12_ENST00000588225.1_RNA			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	477					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		CCTTTGGGGACGTTGCCAACA	0.617													15	67					1.3612e-06	1.71317e-06	1	0	A	1460307	C	A	1460307	3	1	336	1	0	0	0	0	1	0	0	0	765	535	19	3	1469	3	APC2	19	1460307	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08		1460307	57668676	576	62694											
PTPRS	5802	broad.mit.edu	37	chr19	5211644	5211644	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttgatgtagtcagagccctCcacaccccggatgggttgca	8	9	12	12	1	1	2	1	1	0	1	2	3	2	3	4	2	2	4	4	2	1	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:5211644C>G	ENST00000372412.4	-	33	5427	c.5194G>C	c.(5194-5196)Gag>Cag	p.E1732Q	PTPRS_ENST00000588012.1_Missense_Mutation_p.E1693Q|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1711Q|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1284Q|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1284Q|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1693Q|PTPRS_ENST00000587303.1_Missense_Mutation_p.E1731Q|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1731Q			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1731	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCAGAGCCCTCCACACCCCGG	0.552													6	39					0	0	0	0	G	5211644	C	G	5211644	3	3	336	1	0	0	0	0	1	0	0	0	12893	864	30	2	679	2	PTPRS	19	5211644	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	3751337	5211644	53917339	577	62695											
PTPRS	5802	broad.mit.edu	37	chr19	5244023	5244023	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcaggctgcccacggTggtcagcaggctgtcgtcca	6	7	13	15	2	1	0	1	0	0	0	4	0	3	0	3	4	3	4	3	4	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:5244023T>G	ENST00000372412.4	-	11	1695	c.1462A>C	c.(1462-1464)Acc>Ccc	p.T488P	PTPRS_ENST00000262963.6_Missense_Mutation_p.T483P|PTPRS_ENST00000588012.1_Missense_Mutation_p.T474P|PTPRS_ENST00000592099.1_Missense_Mutation_p.T474P|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.T474P|PTPRS_ENST00000348075.2_Missense_Mutation_p.T474P|PTPRS_ENST00000587303.1_Missense_Mutation_p.T487P|PTPRS_ENST00000357368.4_Missense_Mutation_p.T487P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	487	Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTGCCCACGGTGGTCAGCAGG	0.667													19	53					0	0	0	0	G	5244023	T	G	5244023	3	3	336	1	0	0	0	0	1	0	0	0	12893	1696	59	5	4499	5	PTPRS	19	5244023	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	32379	5244023	53884960	578	62696											
KHSRP	8570	broad.mit.edu	37	chr19	6416879	6416879	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctggaccccctggaggAcctgggggaccactctgcaa	8	6	13	14	0	1	0	0	0	1	0	1	4	1	4	5	5	2	1	5	5	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:6416879A>C	ENST00000398148.3	-	13	1289	c.1197T>G	c.(1195-1197)ggT>ggG	p.G399G		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	399	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CCCCTGGAGGACCTGGGGGAC	0.667													8	34					0	0	0	0	C	6416879	A	C	6416879	2	2	336	1	0	0	0	0	0	0	0	1	8202	262	10	5		5	KHSRP	19	6416879	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	1172856	6416879	52712104	579	62697											
EMR1	2015	broad.mit.edu	37	chr19	6903881	6903881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaccaacactcctgggaGctacttttgcacctgccacc	9	9	7	16	0	0	0	0	0	0	0	1	1	1	1	5	1	6	3	5	1	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:6903881G>T	ENST00000312053.4	+	7	759	c.722G>T	c.(721-723)aGc>aTc	p.S241I	EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Missense_Mutation_p.S189I|EMR1_ENST00000381407.5_Missense_Mutation_p.S100I|EMR1_ENST00000250572.8_Missense_Mutation_p.S241I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	241	EGF-like 5; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACTCCTGGGAGCTACTTTTGC	0.488													6	82					8.12818e-05	9.40913e-05	1	0	T	6903881	G	T	6903881	3	4	336	1	0	0	0	0	1	0	0	0	5142	971	34	4	748	4	EMR1	19	6903881	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	487002	6903881	52225102	580	62698											
PNPLA6	10908	broad.mit.edu	37	chr19	7619586	7619586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcattgtgggcctggggGaccaggagcctaccctcggc	5	8	14	14	1	1	0	1	0	0	0	3	2	2	2	5	5	2	0	5	5	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:7619586G>T	ENST00000221249.6	+	24	2928	c.2497G>T	c.(2497-2499)Gac>Tac	p.D833Y	PNPLA6_ENST00000450331.3_Missense_Mutation_p.D833Y|PNPLA6_ENST00000414982.3_Missense_Mutation_p.D881Y|PNPLA6_ENST00000600737.1_Missense_Mutation_p.D871Y|PNPLA6_ENST00000545201.2_Missense_Mutation_p.D806Y	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	872					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGGCCTGGGGGACCAGGAGCC	0.682													5	61					1	1	1	0	T	7619586	G	T	7619586	3	4	336	1	0	0	0	0	1	0	0	0	12241	1174	41	2	2727	2	PNPLA6	19	7619586	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	715705	7619586	51509397	581	62699											
XAB2	56949	broad.mit.edu	37	chr19	7688636	7688636	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccgggggcggccctggTgcagggcgacacgcttgtgc	3	6	17	15	4	0	0	0	0	0	0	1	1	1	0	3	5	2	2	3	5	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:7688636T>A	ENST00000358368.4	-	8	1137	c.1100A>T	c.(1099-1101)cAc>cTc	p.H367L	XAB2_ENST00000534844.1_Missense_Mutation_p.H364L	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	367					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCGGCCCTGGTGCAGGGCGAC	0.647								Direct reversal of damage;Nucleotide excision repair (NER)					11	51					0	0	0	0	A	7688636	T	A	7688636	3	1	336	1	0	0	0	0	1	0	0	0	17514	1696	59	5	1515	5	XAB2	19	7688636	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	69050	7688636	51440347	582	62700											
CD320	51293	broad.mit.edu	37	chr19	8367821	8367821	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctccagggtcacagggggCcccatggttgtggcatcccc	5	8	13	15	0	2	0	1	0	1	0	4	0	3	0	5	5	0	2	5	5	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:8367821C>A	ENST00000301458.5	-	4	610	c.546G>T	c.(544-546)ggG>ggT	p.G182G	CD320_ENST00000537716.2_Silent_p.G140G	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	182					regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						TCACAGGGGGCCCCATGGTTG	0.602													4	42					0.00024832	0.000283794	1	0	A	8367821	C	A	8367821	2	1	336	1	0	0	0	0	0	0	0	1	3033	726	26	4		4	CD320	19	8367821	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	679185	8367821	50761162	583	62701											
MUC16	94025	broad.mit.edu	37	chr19	9068843	9068843	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacatcattgagatcattGttcatgacactggttgtttc	11	15	7	8	0	3	2	3	2	0	1	4	3	3	2	0	1	1	3	0	1	1	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:9068843G>A	ENST00000397910.4	-	3	18806	c.18603C>T	c.(18601-18603)aaC>aaT	p.N6201N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6203	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						TGAGATCATTGTTCATGACAC	0.478													15	84					0	0	0	0	A	9068843	G	A	9068843	2	1	336	1	0	0	0	0	0	0	0	1	10043	1368	48	4		4	MUC16	19	9068843	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	701022	9068843	50060140	584	62702											
MUC16	94025	broad.mit.edu	37	chr19	9069845	9069845	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctgtgagatagtccctatAggacctgtttggttggtgat	7	14	13	7	0	0	2	0	2	0	1	1	4	1	3	3	3	0	2	3	3	3	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:9069845A>G	ENST00000397910.4	-	3	17804	c.17601T>C	c.(17599-17601)ccT>ccC	p.P5867P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5869	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						TAGTCCCTATAGGACCTGTTT	0.493													33	115					0	0	0	0	G	9069845	A	G	9069845	2	3	336	1	0	0	0	0	0	0	0	1	10043	407	15	5		5	MUC16	19	9069845	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	1002	9069845	50059138	585	62703											
ZNF121	7675	broad.mit.edu	37	chr19	9677154	9677154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgtttagtaaggcctgagCgcccagcgaaggctcttcca	9	9	11	12	2	1	1	0	1	1	0	2	2	2	1	3	2	2	3	3	2	3	4	rs142823332		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:9677154C>A	ENST00000586602.1	-	6	1051	c.635G>T	c.(634-636)cGc>cTc	p.R212L	ZNF121_ENST00000320451.6_Missense_Mutation_p.R212L			P58317	ZN121_HUMAN	zinc finger protein 121	212				R -> C (in Ref. 2; M99593).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						AAGGCCTGAGCGCCCAGCGAA	0.408													16	62					1.52009e-12	2.2454e-12	1	0	A	9677154	C	A	9677154	3	1	336	1	0	0	0	0	1	0	0	0	17814	768	27	3	541	3	ZNF121	19	9677154	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	607309	9677154	49451829	586	62704											
TYK2	7297	broad.mit.edu	37	chr19	10488920	10488920	+	Nonsense_Mutation	SNP	C	C	A																															tgcaatgtggatgcagacttCctcagctgtcagcgatgact																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:10488920C>A	ENST00000525621.1	-	3	644	c.163G>T	c.(163-165)Gaa>Taa	p.E55*	TYK2_ENST00000264818.6_Nonsense_Mutation_p.E55*|TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Nonsense_Mutation_p.E55*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	55	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ATGCAGACTTCCTCAGCTGTC	0.617													9	46					2.17888e-05	2.58902e-05	1	0	A	10488920	C	A	10488920	4	1	336	1	0	0	0	0	0	1	0	0	16906	864	30	2	3492	2	TYK2	19	10488920	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	811766	10488920	48640063	587	62705	752	2									
TYK2	7297	broad.mit.edu	37	chr19	10488921	10488921	+	Missense_Mutation	SNP	C	C	A																															gcaatgtggatgcagacttcCtcagctgtcagcgatgactc																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:10488921C>A	ENST00000525621.1	-	3	643	c.162G>T	c.(160-162)gaG>gaT	p.E54D	TYK2_ENST00000264818.6_Missense_Mutation_p.E54D|TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Missense_Mutation_p.E54D	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	54	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGCAGACTTCCTCAGCTGTCA	0.617													10	46					1.58986e-06	1.99164e-06	1	0	A	10488921	C	A	10488921	3	1	336	1	0	0	0	0	1	0	0	0	16906	680	24	4	3493	4	TYK2	19	10488921	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1	10488921	48640062	588	62706	752	2									
SMARCA4	6597	broad.mit.edu	37	chr19	11132537	11132537	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaccgctgcagaacaagcTtcccgagctctgggcgctgc	8	6	11	16	3	1	1	0	0	1	1	2	2	2	1	2	1	5	5	2	1	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:11132537T>G	ENST00000358026.2	+	19	3037	c.2753T>G	c.(2752-2754)cTt>cGt	p.L918R	SMARCA4_ENST00000541122.2_Missense_Mutation_p.L918R|SMARCA4_ENST00000429416.3_Missense_Mutation_p.L918R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.L918R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.L918R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.L918R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.L918R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.L918R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.L918R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	918	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGAACAAGCTTCCCGAGCTC	0.612			"F, N, Mis"		NSCLC								8	36					0	0	0	0	G	11132537	T	G	11132537	3	3	336	1	0	0	0	0	1	0	0	0	14858	1609	56	5	2823	5	SMARCA4	19	11132537	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	643616	11132537	47996446	589	62707											
CACNA1A	773	broad.mit.edu	37	chr19	13414638	13414638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaccatgccgccctgcaCgcccccctgagacttgatcc	8	6	8	19	2	0	2	0	2	0	1	1	4	1	2	7	0	3	1	7	0	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:13414638C>T	ENST00000360228.5	-	16	2046	c.2047G>A	c.(2047-2049)Gtg>Atg	p.V683M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V684M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	684					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCGCCCTGCACGCCCCCCTGA	0.557													26	128					0	0	0	0	T	13414638	C	T	13414638	3	4	336	1	0	0	0	0	1	0	0	0	2563	536	19	1	5712	1	CACNA1A	19	13414638	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	2282101	13414638	45714345	590	62708											
IL27RA	9466	broad.mit.edu	37	chr19	14150441	14150441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcactaaggcaggccagcctCtctggccccccgtcttcgtg	5	8	11	17	2	2	0	0	0	2	0	4	0	2	0	5	3	1	2	5	3	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:14150441C>G	ENST00000263379.2	+	3	465	c.340C>G	c.(340-342)Ctc>Gtc	p.L114V		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	114					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						AGGCCAGCCTCTCTGGCCCCC	0.622													8	85					0	0	0	0	G	14150441	C	G	14150441	3	3	336	1	0	0	0	0	1	0	0	0	7734	913	32	2	350	2	IL27RA	19	14150441	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	735803	14150441	44978542	591	62709											
NOTCH3	4854	broad.mit.edu	37	chr19	15295128	15295128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcacagtcattgatgtcCtgatcgcaggaagggccagt	9	9	14	9	1	2	2	2	2	0	0	4	3	3	3	2	3	0	1	2	3	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:15295128C>A	ENST00000263388.2	-	16	2619	c.2544G>T	c.(2542-2544)caG>caT	p.Q848H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	848					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATTGATGTCCTGATCGCAGG	0.597													10	32					4.68919e-08	6.23169e-08	1	0	A	15295128	C	A	15295128	3	1	336	1	0	0	0	0	1	0	0	0	10620	680	24	4	4493	4	NOTCH3	19	15295128	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1144687	15295128	43833855	592	62710											
MYO9B	4650	broad.mit.edu	37	chr19	17283670	17283670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcatcggcatggaccccGtggccgtgttccgctgggcc	4	8	14	15	4	1	0	1	0	0	0	3	1	2	1	5	4	1	4	5	4	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:17283670G>T	ENST00000595618.1	+	13	2190	c.2038G>T	c.(2038-2040)Gtg>Ttg	p.V680L	MYO9B_ENST00000397274.2_Missense_Mutation_p.V680L|MYO9B_ENST00000594824.1_Missense_Mutation_p.V680L	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	680	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CATGGACCCCGTGGCCGTGTT	0.687													11	57					3.07112e-06	3.81764e-06	1	0	T	17283670	G	T	17283670	3	4	336	1	0	0	0	0	1	0	0	0	10155	1145	40	3	2084	3	MYO9B	19	17283670	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1988542	17283670	41845313	593	62711											
NCAN	1463	broad.mit.edu	37	chr19	19338428	19338428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggtgaggccaccgccacgGctccaccctcccctgctgca	6	6	10	19	2	0	1	0	1	0	0	2	1	2	1	7	3	2	3	7	3	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:19338428G>T	ENST00000252575.5	+	8	2042	c.1999G>T	c.(1999-2001)Gct>Tct	p.A667S	NCAN_ENST00000538881.1_Missense_Mutation_p.A118S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	667					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CACCGCCACGGCTCCACCCTC	0.617													8	123					2.17888e-05	2.58902e-05	1	0	T	19338428	G	T	19338428	3	4	336	1	0	0	0	0	1	0	0	0	10274	1203	42	4	2025	4	NCAN	19	19338428	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2054758	19338428	39790555	594	62712											
ZNF208	7757	broad.mit.edu	37	chr19	22155727	22155727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccataaggtttgaggaccaGttgaaagctttgccacattc	11	12	9	9	0	0	2	0	2	0	0	2	3	1	3	3	2	2	3	3	2	2	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:22155727G>T	ENST00000397126.4	-	4	2257	c.2109C>A	c.(2107-2109)aaC>aaA	p.N703K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGACCAGTTGAAAGCTT	0.378													5	45					1.23904e-05	1.49648e-05	1	0	T	22155727	G	T	22155727	3	4	336	1	0	0	0	0	1	0	0	0	17861	1020	36	4	1737	4	ZNF208	19	22155727	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2817299	22155727	36973256	595	62713											
ZNF91	7644	broad.mit.edu	37	chr19	23544294	23544294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggattgcctaaaagctttgCcacattcttcacatttgtag	11	14	7	9	0	2	0	1	0	1	0	2	1	2	1	2	1	3	2	2	1	3	7			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:23544294C>T	ENST00000300619.7	-	4	1692	c.1487G>A	c.(1486-1488)gGc>gAc	p.G496D	ZNF91_ENST00000397082.2_Missense_Mutation_p.G464D|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	496						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AAAAGCTTTGCCACATTCTTC	0.368													7	45					0	0	0	0	T	23544294	C	T	23544294	3	4	336	1	0	0	0	0	1	0	0	0	18293	739	26	4	2092	4	ZNF91	19	23544294	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1388567	23544294	35584689	596	62714											
ZNF536	9745	broad.mit.edu	37	chr19	30936587	30936587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcggaggcggcctctcccaGaccgggagtgcccaggagga	7	4	17	13	3	1	1	0	0	1	1	3	5	1	5	4	6	1	0	4	6	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:30936587G>C	ENST00000355537.3	+	2	2265	c.2118G>C	c.(2116-2118)caG>caC	p.Q706H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCTCTCCCAGACCGGGAGTG	0.682													6	32					0	0	0	0	C	30936587	G	C	30936587	3	2	336	1	0	0	0	0	1	0	0	0	18069	933	33	2	2120	2	ZNF536	19	30936587	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	7392293	30936587	28192396	597	62715											
TSHZ3	57616	broad.mit.edu	37	chr19	31769440	31769440	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacaatgggcttcccctttTtcatagcagagttggtgacc	8	12	9	12	0	1	2	1	1	0	1	2	2	2	2	4	2	1	3	4	2	2	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:31769440T>A	ENST00000240587.4	-	2	1586	c.1259A>T	c.(1258-1260)aAa>aTa	p.K420I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	420					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTCCCCTTTTTCATAGCAGA	0.572													55	133					0	0	0	0	A	31769440	T	A	31769440	3	1	336	1	0	0	0	0	1	0	0	0	16720	1841	64	5	1990	5	TSHZ3	19	31769440	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	832853	31769440	27359543	598	62716											
LRP3	4037	broad.mit.edu	37	chr19	33697258	33697258	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctactcactgcgcacgCaggaatacaggtgggcgctg	9	7	13	12	3	2	0	1	0	1	0	2	1	2	1	0	3	4	4	0	3	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:33697258C>T	ENST00000253193.7	+	5	1784	c.1582C>T	c.(1582-1584)Cag>Tag	p.Q528*		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	528					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					ACTGCGCACGCAGGAATACAG	0.657													5	17					0	0	0	0	T	33697258	C	T	33697258	4	4	336	1	0	0	0	0	0	1	0	0	9022	711	25	4	1600	4	LRP3	19	33697258	Nonsense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1927818	33697258	25431725	599	62717											
GRAMD1A	57655	broad.mit.edu	37	chr19	35517044	35517044	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccgatgacagcttttcctGaggaccccggccacgcagct	7	7	11	16	3	0	2	0	2	0	0	1	4	1	3	5	2	2	3	5	2	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:35517044G>C	ENST00000599564.1	+	20	2494	c.2423G>C	c.(2422-2424)tGa>tCa	p.*808S	GRAMD1A_ENST00000317991.5_Nonstop_Mutation_p.*725S|GRAMD1A_ENST00000411896.2_Nonstop_Mutation_p.*714S|GRAMD1A_ENST00000504615.2_Nonstop_Mutation_p.*487S			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	0						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCTTTTCCTGAGGACCCCGG	0.637													5	34					0	0	0	0	C	35517044	G	C	35517044	4	2	336	1	0	0	0	0	0	0	0	0	6797	1285	45	2	2252	2	GRAMD1A	19	35517044	Nonstop_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1819786	35517044	23611939	600	62718											
GGN	199720	broad.mit.edu	37	chr19	38877111	38877111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgccccccagcgaagctttgGctgctaaggaactcgaggct	8	7	12	14	3	0	0	0	0	0	0	1	3	0	1	3	3	4	4	3	3	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:38877111G>A	ENST00000334928.6	-	3	923	c.791C>T	c.(790-792)gCc>gTc	p.A264V	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	264	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGAAGCTTTGGCTGCTAAGGA	0.642													18	62					0	0	0	0	A	38877111	G	A	38877111	3	1	336	1	0	0	0	0	1	0	0	0	6409	1203	42	4	1175	4	GGN	19	38877111	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	3360067	38877111	20251872	601	62719											
NCCRP1	342897	broad.mit.edu	37	chr19	39688732	39688732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaccccctactggtcccaCccagcgacccctggaaactc	9	5	7	20	1	0	0	0	0	0	0	2	2	1	1	6	2	4	1	6	2	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:39688732C>T	ENST00000339852.4	+	2	399	c.377C>T	c.(376-378)aCc>aTc	p.T126I		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	126	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						ACTGGTCCCACCCAGCGACCC	0.622													21	178					0	0	0	0	T	39688732	C	T	39688732	3	4	336	1	0	0	0	0	1	0	0	0	10283	507	18	4	383	4	NCCRP1	19	39688732	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	811621	39688732	19440251	602	62720											
FCGBP	8857	broad.mit.edu	37	chr19	40419914	40419914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgccagctgttcccaaagGccagtgcattggcagcttga	8	10	11	12	0	0	1	0	1	0	0	1	1	1	1	3	2	4	5	3	2	1	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:40419914G>A	ENST00000221347.6	-	6	3087	c.3080C>T	c.(3079-3081)gCc>gTc	p.A1027V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1027	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTTCCCAAAGGCCAGTGCATT	0.627													5	64					0	0	0	0	A	40419914	G	A	40419914	3	1	336	1	0	0	0	0	1	0	0	0	5823	1203	42	4	13261	4	FCGBP	19	40419914	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	731182	40419914	18709069	603	62721											
FCGBP	8857	broad.mit.edu	37	chr19	40433612	40433612	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccagagaggacagccacGgggctactagctgtgacctt	9	7	14	11	1	0	2	0	1	0	1	0	4	0	3	3	4	3	2	3	4	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:40433612G>A	ENST00000221347.6	-	2	664	c.657C>T	c.(655-657)ccC>ccT	p.P219P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	219	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACAGCCACGGGGCTACTAG	0.582													17	86					0	0	0	0	A	40433612	G	A	40433612	2	1	336	1	0	0	0	0	0	0	0	1	5823	1103	39	1		1	FCGBP	19	40433612	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	13698	40433612	18695371	604	62722											
CEACAM5	1048	broad.mit.edu	37	chr19	42224010	42224010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgcagctgtccaatGgcaacaggaccctcactcta	10	7	9	15	0	2	0	1	0	1	0	3	1	3	1	3	3	3	4	3	3	3	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:42224010G>A	ENST00000221992.6	+	7	1768	c.1654G>A	c.(1654-1656)Ggc>Agc	p.G552S	CEACAM5_ENST00000405816.1_Missense_Mutation_p.G552S|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.G551S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	552	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GCTGTCCAATGGCAACAGGAC	0.522													15	154					0	0	0	0	A	42224010	G	A	42224010	3	1	336	1	0	0	0	0	1	0	0	0	3224	1348	47	4	1680	4	CEACAM5	19	42224010	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1790398	42224010	16904973	605	62723											
CEACAM5	1048	broad.mit.edu	37	chr19	42224891	42224891	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagactcgtcttacctttcGggagcgaacctcaacctctc	8	10	7	16	3	3	1	1	0	2	1	6	3	3	2	4	1	4	0	4	1	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:42224891G>A	ENST00000221992.6	+	8	1935	c.1821G>A	c.(1819-1821)tcG>tcA	p.S607S	CEACAM5_ENST00000405816.1_Silent_p.S607S|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.S606S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	607	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTTACCTTTCGGGAGCGAACC	0.542													17	128					0	0	0	0	A	42224891	G	A	42224891	2	1	336	1	0	0	0	0	0	0	0	1	3224	1103	39	1		1	CEACAM5	19	42224891	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	881	42224891	16904092	606	62724											
ZNF222	7673	broad.mit.edu	37	chr19	44536837	44536837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatcaacgagtccacactgGagaaaagccatacaaatgtg	16	6	8	11	1	1	1	1	0	0	1	2	3	2	1	3	1	3	0	3	1	5	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:44536837G>T	ENST00000187879.8	+	4	1172	c.1010G>T	c.(1009-1011)gGa>gTa	p.G337V	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.G377V	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GTCCACACTGGAGAAAAGCCA	0.428													9	83					0.00448238	0.00481618	1	0	T	44536837	G	T	44536837	3	4	336	1	0	0	0	0	1	0	0	0	17871	1174	41	2	1163	2	ZNF222	19	44536837	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2311946	44536837	14592146	607	62725											
EML2	24139	broad.mit.edu	37	chr19	46137675	46137675	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccacaaagtacactatctcCccggtgggcagcaaataaag	14	6	9	12	1	1	0	0	0	1	0	2	0	1	0	3	2	2	3	3	2	6	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:46137675C>A	ENST00000536630.1	-	7	813	c.675G>T	c.(673-675)ggG>ggT	p.G225G	EML2_ENST00000245925.3_Silent_p.G78G|EML2_ENST00000587152.1_Silent_p.G279G|EML2_ENST00000589876.1_Silent_p.G78G	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	78					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACACTATCTCCCCGGTGGGCA	0.557													6	20					0.0215528	0.0223551	1	0	A	46137675	C	A	46137675	2	1	336	1	0	0	0	0	0	0	0	1	5135	610	22	4		4	EML2	19	46137675	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1600838	46137675	12991308	608	62726											
TBC1D17	79735	broad.mit.edu	37	chr19	50386085	50386085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagaggaggagtgggcacGccacgtgggccctgaaggtc	9	5	17	10	2	0	2	0	1	0	1	1	4	0	4	2	5	1	1	2	5	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:50386085G>A	ENST00000221543.5	+	8	1162	c.863G>A	c.(862-864)cGc>cAc	p.R288H	TBC1D17_ENST00000535102.2_Missense_Mutation_p.R255H	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	288						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GAGTGGGCACGCCACGTGGGC	0.667													4	41					0	0	0	0	A	50386085	G	A	50386085	3	1	336	1	0	0	0	0	1	0	0	0	15697	1087	38	1	893	1	TBC1D17	19	50386085	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	4248410	50386085	8742898	609	62727											
TBC1D17	79735	broad.mit.edu	37	chr19	50386922	50386922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcagggatgagtatttccGcatgaagctgcagtggaaat	12	10	12	7	1	1	2	1	2	0	0	2	4	2	4	1	2	2	4	1	2	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:50386922G>A	ENST00000221543.5	+	10	1345	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	TBC1D17_ENST00000535102.2_Missense_Mutation_p.R316H	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	349	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GAGTATTTCCGCATGAAGCTG	0.577													6	43					0	0	0	0	A	50386922	G	A	50386922	3	1	336	1	0	0	0	0	1	0	0	0	15697	1087	38	1	1084	1	TBC1D17	19	50386922	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	837	50386922	8742061	610	62728											
SPIB	6689	broad.mit.edu	37	chr19	50926091	50926091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcccccagactccctgtggGactggactgtggccccacct	5	9	10	17	0	0	1	0	0	0	1	2	3	2	3	6	3	0	0	6	3	0	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:50926091G>C	ENST00000595883.1	+	4	161	c.136G>C	c.(136-138)Gac>Cac	p.D46H	SPIB_ENST00000596074.1_Intron|SPIB_ENST00000270632.7_Missense_Mutation_p.D46H|SPIB_ENST00000439922.2_Intron|SPIB_ENST00000597855.1_Missense_Mutation_p.D46H	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	46	TAD2.				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	p.D46Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTCCCTGTGGGACTGGACTGT	0.647													10	69					0	0	0	0	C	50926091	G	C	50926091	3	2	336	1	0	0	0	0	1	0	0	0	15140	1174	41	2	150	2	SPIB	19	50926091	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	539169	50926091	8202892	611	62729											
KLK15	55554	broad.mit.edu	37	chr19	51330362	51330362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgagacgtggtccgtagttGctctgggccatcgcgcttgc	4	10	14	13	5	1	1	0	0	1	1	3	2	2	1	3	2	2	4	3	2	1	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:51330362G>T	ENST00000326856.4	-	4	379	c.250C>A	c.(250-252)Caa>Aaa	p.Q84K	KLK15_ENST00000596931.1_Missense_Mutation_p.Q84K|KLK15_ENST00000598239.1_Missense_Mutation_p.Q85K|KLK15_ENST00000416184.1_Missense_Mutation_p.Q85K|KLK15_ENST00000301421.2_Missense_Mutation_p.Q85K	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	85	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GTCCGTAGTTGCTCTGGGCCA	0.652													8	86					0.000673444	0.000750542	1	0	T	51330362	G	T	51330362	3	4	336	1	0	0	0	0	1	0	0	0	8455	1328	46	4	529	4	KLK15	19	51330362	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	404271	51330362	7798621	612	62730											
CEACAM18	729767	broad.mit.edu	37	chr19	51981922	51981922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttccagacccagatggaGcctgtggaggagggtcttcc	7	9	13	12	0	1	2	0	0	1	2	3	5	3	5	5	4	1	0	5	4	0	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:51981922G>T	ENST00000396477.4	+	1	47	c.26G>T	c.(25-27)aGc>aTc	p.S9I	CEACAM18_ENST00000451626.1_Missense_Mutation_p.S70I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	70						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCAGATGGAGCCTGTGGAGG	0.622													5	29					0.014758	0.0154462	1	0	T	51981922	G	T	51981922	3	4	336	1	0	0	0	0	1	0	0	0	3218	971	34	4	215	4	CEACAM18	19	51981922	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	651560	51981922	7147061	613	62731											
VN1R4	317703	broad.mit.edu	37	chr19	53770278	53770278	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgctcctatcaatgtgcTggacccgctgcttgtgcctg	5	13	11	12	1	1	0	1	0	0	0	2	2	2	1	3	1	4	4	3	1	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:53770278T>A	ENST00000311170.4	-	1	694	c.641A>T	c.(640-642)cAg>cTg	p.Q214L		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	214					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ATCAATGTGCTGGACCCGCTG	0.532										HNSCC(26;0.072)			8	21					0	0	0	0	A	53770278	T	A	53770278	3	1	336	1	0	0	0	0	1	0	0	0	17276	1580	55	5	267	5	VN1R4	19	53770278	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	1788356	53770278	5358705	614	62732											
NLRP12	91662	broad.mit.edu	37	chr19	54297342	54297342	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaggttttgttactcgaagCgctgccaacctactgtgggt	8	13	11	9	2	0	0	0	0	0	0	1	1	0	0	2	2	5	3	2	2	5	5	rs148506660		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:54297342C>A	ENST00000324134.6	-	10	3315	c.3147G>T	c.(3145-3147)gcG>gcT	p.A1049A	NLRP12_ENST00000391773.1_Silent_p.A1050A|NLRP12_ENST00000351894.4_Silent_p.A937A|NLRP12_ENST00000391775.3_Silent_p.A992A|NLRP12_ENST00000535162.1_Silent_p.A992A|NLRP12_ENST00000354278.3_Silent_p.A880A|NLRP12_ENST00000345770.5_Silent_p.A994A|NLRP12_ENST00000391772.1_Silent_p.A880A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1049					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.A1049A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTACTCGAAGCGCTGCCAACC	0.463													5	59					0.184627	0.186707	1	0	A	54297342	C	A	54297342	2	1	336	1	0	0	0	0	0	0	0	1	10544	755	27	3		3	NLRP12	19	54297342	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	527064	54297342	4831641	615	62733											
LILRB1	10859	broad.mit.edu	37	chr19	55147977	55147977	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgaagacccccaggcagtGacgtatgccgaggtgaaaca	13	5	13	10	2	0	4	0	3	0	1	0	6	0	4	3	2	2	2	3	2	3	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:55147977G>C	ENST00000396331.1	+	15	2037	c.1680G>C	c.(1678-1680)gtG>gtC	p.V560V	LILRB1_ENST00000396315.1_Silent_p.V562V|LILRB1_ENST00000396332.4_Silent_p.V561V|LILRB1_ENST00000434867.2_Silent_p.V560V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_Silent_p.V562V|LILRB1_ENST00000396321.2_Silent_p.V560V|LILRB1_ENST00000418536.2_Silent_p.V544V|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396317.1_Silent_p.V544V|LILRB1_ENST00000396327.3_Silent_p.V561V|LILRB1_ENST00000427581.2_Silent_p.V611V|LILRB1_ENST00000448689.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	560					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCAGGCAGTGACGTATGCCG	0.572										HNSCC(37;0.09)			5	58					0	0	0	0	C	55147977	G	C	55147977	2	2	336	1	0	0	0	0	0	0	0	1	8844	1277	45	2		2	LILRB1	19	55147977	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	850635	55147977	3981006	616	62734											
KIR3DL1	3811	broad.mit.edu	37	chr19	55340877	55340877	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcatcatcctcttcatcctCctcctcttctttctccttca	4	18	1	18	0	8	0	4	0	4	0	13	0	12	0	5	0	0	0	5	0	0	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:55340877C>A	ENST00000391728.4	+	7	1095	c.1062C>A	c.(1060-1062)ctC>ctA	p.L354L	KIR3DL1_ENST00000358178.4_Silent_p.L259L|KIR3DL1_ENST00000541392.1_Silent_p.L337L|KIR3DL1_ENST00000538269.1_Silent_p.L354L|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Silent_p.L337L	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		tcttcatcctcctcctcttct	0.512													13	127					1.52009e-12	2.2454e-12	1	0	A	55340877	C	A	55340877	2	1	336	1	0	0	0	0	0	0	0	1	8372	842	30	2		2	KIR3DL1	19	55340877	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	192900	55340877	3788106	617	62735											
NLRP5	126206	broad.mit.edu	37	chr19	56515259	56515259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaagaatttcagacattCaaggaattactaaagaagaa	21	8	8	4	0	2	4	2	0	0	4	2	6	2	6	0	2	1	0	0	2	10	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:56515259C>T	ENST00000390649.3	+	2	240	c.240C>T	c.(238-240)ttC>ttT	p.F80F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	80	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCAGACATTCAAGGAATTAC	0.438													9	99					0	0	0	0	T	56515259	C	T	56515259	2	4	336	1	0	0	0	0	0	0	0	1	10550	825	29	2		2	NLRP5	19	56515259	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1174382	56515259	2613724	618	62736											
PEG3	5178	broad.mit.edu	37	chr19	57328519	57328519	+	Frame_Shift_Del	DEL	G	G	-																															gggggagctgaggctgctcaGgctgctcacgctcatggctt																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:57328519delG	ENST00000326441.9	-	10	1654	c.1291delC	c.(1291-1293)tgfs	p.L431fs	PEG3_ENST00000593695.1_Frame_Shift_Del_p.L305fs|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.L307fs|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.L431fs|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	431					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGCTGCTCAGGCTGCTCACG	0.512													28	172	---	---	---	---					-	57328519	G	-	57328519	7	5	336	1	0	1	0	1	0	0	0	0	11791	991	35	0	3479	0	PEG3	19	57328519	Frame_Shift_Del	DEL	G	TCGA-CV-A45W-01A-11D-A25D-08	813260	57328519	1800464	619	62737											
ZNF329	79673	broad.mit.edu	37	chr19	58639352	58639352	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccggctgggaccctcccTgctatggagtctctgatgta	7	10	11	13	1	1	1	0	1	1	0	3	3	2	3	3	3	1	3	3	3	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:58639352T>A	ENST00000598312.1	-	4	1752	c.1519A>T	c.(1519-1521)Agg>Tgg	p.R507W	ZNF329_ENST00000358067.4_Missense_Mutation_p.R507W	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GGACCCTCCCTGCTATGGAGT	0.512													15	184					0	0	0	0	A	58639352	T	A	58639352	3	1	336	1	0	0	0	0	1	0	0	0	17942	1579	55	5	110	5	ZNF329	19	58639352	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	1310833	58639352	489631	620	62738											
TASP1	55617	broad.mit.edu	37	chr20	13463984	13463984	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcacaagatgctctccacatCctagaaatccaaagaaacca	17	6	5	13	0	1	3	0	0	1	3	4	3	3	3	4	0	2	2	4	0	5	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:13463984C>G	ENST00000337743.4	-	11	995	c.874_splice	c.e11-1	p.G292_splice	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Splice_Site_p.D95_splice	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	292					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CTCTCCACATCCTAGAAATCC	0.438													15	91					0	0	0	0	G	13463984	C	G	13463984	5	3	336	1	0	0	0	0	0	0	1	0	15680	869	30	2	403	2	TASP1	20	13463984	Splice_Site	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08		13463984	49561536	621	62739											
SLC24A3	57419	broad.mit.edu	37	chr20	19673993	19673993	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactgcaacaagccgcgctGggagaaatggttcatggtga	12	7	13	9	2	1	2	1	1	0	1	1	3	1	2	1	3	4	3	1	3	4	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:19673993G>A	ENST00000328041.6	+	13	1612	c.1415G>A	c.(1414-1416)tGg>tAg	p.W472*	RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	472						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAGCCGCGCTGGGAGAAATGG	0.527													5	59					0	0	0	0	A	19673993	G	A	19673993	4	1	336	1	0	0	0	0	0	1	0	0	14555	1357	47	4	1465	4	SLC24A3	20	19673993	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	6210009	19673993	43351527	622	62740											
ENTPD6	955	broad.mit.edu	37	chr20	25203553	25203553	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaggacggaggaagtgaaGcatgtggacttctatgcttt	11	10	13	7	1	1	1	0	1	1	0	1	5	1	5	0	4	2	2	0	4	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:25203553G>A	ENST00000360031.2	+	12	1304	c.1122G>A	c.(1120-1122)aaG>aaA	p.K374K	ENTPD6_ENST00000433259.2_Silent_p.K341K|ENTPD6_ENST00000354989.5_Silent_p.K358K|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000376652.4_Silent_p.K375K	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	375						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						AGGAAGTGAAGCATGTGGACT	0.577													20	110					0	0	0	0	A	25203553	G	A	25203553	2	1	336	1	0	0	0	0	0	0	0	1	5181	962	34	4		4	ENTPD6	20	25203553	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	5529560	25203553	37821967	623	62741											
PIGU	128869	broad.mit.edu	37	chr20	33148763	33148763	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcaggaaggcatagaaGtaatcagagatgagcaggat	15	5	14	7	2	1	3	1	1	0	2	1	6	1	5	1	3	1	4	1	3	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:33148763G>C	ENST00000374820.2	-	11	1175	c.1155C>G	c.(1153-1155)taC>taG	p.Y385*	PIGU_ENST00000452740.2_3'UTR			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	405					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						AGGCATAGAAGTAATCAGAGA	0.592													4	19					0	0	0	0	C	33148763	G	C	33148763	4	2	336	1	0	0	0	0	0	1	0	0	11972	1024	36	4	96	4	PIGU	20	33148763	Nonsense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	7945210	33148763	29876757	624	62742											
EPB41L1	2036	broad.mit.edu	37	chr20	34810251	34810251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcagcatcctgatatgctgGtaaccaaagctgtcgtatac	11	11	9	10	1	0	1	0	1	0	0	2	1	1	1	2	1	6	6	2	1	5	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:34810251G>T	ENST00000338074.2	+	21	2733	c.2572G>T	c.(2572-2574)Gta>Tta	p.V858L	EPB41L1_ENST00000202028.5_Missense_Mutation_p.V756L|EPB41L1_ENST00000441639.1_Missense_Mutation_p.V756L|EPB41L1_ENST00000373941.1_Missense_Mutation_p.V857L|EPB41L1_ENST00000373946.3_Missense_Mutation_p.V678L|EPB41L1_ENST00000373950.2_Missense_Mutation_p.V749L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	858	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TGATATGCTGGTAACCAAAGC	0.522													13	115					1.65356e-20	2.56938e-20	1	0	T	34810251	G	T	34810251	3	4	336	1	0	0	0	0	1	0	0	0	5190	1261	44	4	2650	4	EPB41L1	20	34810251	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1661488	34810251	28215269	625	62743											
SLC13A3	64849	broad.mit.edu	37	chr20	45194884	45194884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagctctgccaggaccGgcaggaagatgatgatggtc	10	7	13	11	1	2	3	1	2	1	1	3	5	2	5	3	4	2	2	3	4	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:45194884G>A	ENST00000279027.4	-	11	1496	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L	SLC13A3_ENST00000396360.1_Missense_Mutation_p.P411L|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P446L|SLC13A3_ENST00000472148.1_Missense_Mutation_p.P411L|SLC13A3_ENST00000435032.1_Missense_Mutation_p.P78L|SLC13A3_ENST00000290317.5_Missense_Mutation_p.P446L|SLC13A3_ENST00000413164.2_Missense_Mutation_p.P443L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	493						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGCCAGGACCGGCAGGAAGAT	0.602													10	135					0	0	0	0	A	45194884	G	A	45194884	3	1	336	1	0	0	0	0	1	0	0	0	14481	1116	39	1	342	1	SLC13A3	20	45194884	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	10384633	45194884	17830636	626	62744											
ADNP	23394	broad.mit.edu	37	chr20	49508324	49508324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacacttgttgggatccaGgcccactctcagatggagaa	10	9	11	11	0	1	3	1	1	1	2	3	5	2	4	2	3	0	1	2	3	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:49508324G>A	ENST00000396029.3	-	5	3494	c.2927C>T	c.(2926-2928)cCt>cTt	p.P976L	ADNP_ENST00000396032.3_Missense_Mutation_p.P976L|ADNP_ENST00000371602.4_Missense_Mutation_p.P976L|ADNP_ENST00000349014.3_Missense_Mutation_p.P976L	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	976						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTGGGATCCAGGCCCACTCTC	0.488													11	139					0	0	0	0	A	49508324	G	A	49508324	3	1	336	1	0	0	0	0	1	0	0	0	323	1000	35	4	385	4	ADNP	20	49508324	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	4313440	49508324	13517196	627	62745											
SALL4	57167	broad.mit.edu	37	chr20	50407722	50407722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggtttgccttcacctGgggatgtcggtgaaagtgca	6	11	16	8	1	1	1	1	1	0	0	2	2	1	2	2	5	2	2	2	5	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:50407722G>T	ENST00000217086.4	-	2	1411	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	434					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCTTCACCTGGGGATGTCGG	0.582													11	59					7.03913e-09	9.65639e-09	1	0	T	50407722	G	T	50407722	3	4	336	1	0	0	0	0	1	0	0	0	13898	1357	47	4	1873	4	SALL4	20	50407722	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	899398	50407722	12617798	628	62746											
TSHZ2	128553	broad.mit.edu	37	chr20	51872767	51872767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaacatggacaaaggccacCccatcttttattgcagtgac	14	9	7	11	0	1	1	0	1	1	0	1	2	1	2	3	2	2	1	3	2	4	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:51872767C>T	ENST00000371497.5	+	2	3657	c.2770C>T	c.(2770-2772)Ccc>Tcc	p.P924S	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P921S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P921S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	924					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAAGGCCACCCCATCTTTTA	0.473													5	60					0	0	0	0	T	51872767	C	T	51872767	3	4	336	1	0	0	0	0	1	0	0	0	16719	623	22	4	2776	4	TSHZ2	20	51872767	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1465045	51872767	11152753	629	62747											
NRIP1	8204	broad.mit.edu	37	chr21	16339085	16339085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctttgatatctacatCtgggacttttggatcccaag	9	16	7	9	0	4	1	0	1	4	0	5	3	5	3	1	2	1	0	1	2	3	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:16339085C>A	ENST00000400202.1	-	3	2141	c.1429G>T	c.(1429-1431)Gat>Tat	p.D477Y	NRIP1_ENST00000318948.4_Missense_Mutation_p.D477Y|NRIP1_ENST00000400199.1_Missense_Mutation_p.D477Y			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	477	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATATCTACATCTGGGACTTTT	0.388													30	93					1.80694e-10	2.57952e-10	1	0	A	16339085	C	A	16339085	3	1	336	1	0	0	0	0	1	0	0	0	10723	913	32	2	2051	2	NRIP1	21	16339085	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08		16339085	31790810	630	62748											
NCAM2	4685	broad.mit.edu	37	chr21	22656613	22656613	+	Frame_Shift_Del	DEL	G	G	-																															aaaggaaggtgttaggtcacGgttaaccatctacaatgcaa																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:22656613delG	ENST00000400546.1	+	3	479	c.230delG	c.(229-231)cgfs	p.R77fs	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Frame_Shift_Del_p.R102fs|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	77	Ig-like C2-type 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTTAGGTCACGGTTAACCATC	0.398													12	46	---	---	---	---					-	22656613	G	-	22656613	7	5	336	1	0	1	0	1	0	0	0	0	10273	1116	39	0	240	0	NCAM2	21	22656613	Frame_Shift_Del	DEL	G	TCGA-CV-A45W-01A-11D-A25D-08	6317528	22656613	25473282	631	62749											
N6AMT1	29104	broad.mit.edu	37	chr21	30255315	30255315	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatatacttacatgtacaaAgcctgagggcctatcataga	14	11	8	8	0	1	3	1	2	0	1	1	3	1	3	2	1	4	1	2	1	7	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:30255315A>C	ENST00000303775.5	-	2	238	c.213T>G	c.(211-213)gcT>gcG	p.A71A	N6AMT1_ENST00000351429.3_Silent_p.A71A	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	71					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						ACATGTACAAAGCCTGAGGGC	0.343													8	38					0	0	0	0	C	30255315	A	C	30255315	2	2	336	1	0	0	0	0	0	0	0	1	10184	59	3	5		5	N6AMT1	21	30255315	Silent	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	7598702	30255315	17874580	632	62750											
KRTAP19-3	337970	broad.mit.edu	37	chr21	31864074	31864074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctccatagtatgatgggcGgtagcagccatatccgtagc	9	10	11	11	2	0	1	0	1	0	0	3	1	3	1	4	2	3	4	4	2	5	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:31864074G>T	ENST00000334063.4	-	1	201	c.202C>A	c.(202-204)Cgc>Agc	p.R68S		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	68						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						TATGATGGGCGGTAGCAGCCA	0.493													13	177					2.27111e-07	2.94552e-07	1	0	T	31864074	G	T	31864074	3	4	336	1	0	0	0	0	1	0	0	0	8582	1116	39	3	47	3	KRTAP19-3	21	31864074	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1608759	31864074	16265821	633	62751											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253745	32253745	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccgcccaggcagtcagcAtcagtggtggaagtcgtggt	8	8	15	10	2	2	0	2	0	0	0	3	1	2	1	2	4	2	2	2	4	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:32253745A>C	ENST00000332378.4	-	1	129	c.99T>G	c.(97-99)gaT>gaG	p.D33E		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	33						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GGCAGTCAGCATCAGTGGTGG	0.562													12	81					0	0	0	0	C	32253745	A	C	32253745	3	2	336	1	0	0	0	0	1	0	0	0	8569	214	8	5	396	5	KRTAP11-1	21	32253745	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	389671	32253745	15876150	634	62752											
TIAM1	7074	broad.mit.edu	37	chr21	32595908	32595908	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgctcccagacaaagatCtatggtagtgaaaacacggg	13	10	10	8	1	1	3	0	1	1	2	2	3	2	3	1	2	2	2	1	2	5	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:32595908C>G	ENST00000286827.3	-	9	2281		c.e9-1		TIAM1_ENST00000469412.1_Splice_Site|TIAM1_ENST00000541036.1_Splice_Site	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGACAAAGATCTATGGTAGTG	0.418													12	39					0	0	0	0	G	32595908	C	G	32595908	5	3	336	1	0	0	0	0	0	0	1	0	15984	927	32	2	3050	2	TIAM1	21	32595908	Splice_Site	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	342163	32595908	15533987	635	62753											
IGSF5	150084	broad.mit.edu	37	chr21	41165460	41165460	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaattgttcttctgttgcaGacaccgcttctctccctccc	7	14	5	15	1	3	1	0	0	3	1	6	1	5	1	3	0	1	4	3	0	2	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:41165460G>A	ENST00000380588.4	+	8	1151		c.e8-1			NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5							integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTCTGTTGCAGACACCGCTTC	0.413													14	67					0	0	0	0	A	41165460	G	A	41165460	5	1	336	1	0	0	0	0	0	0	1	0	7655	956	33	2	1078	2	IGSF5	21	41165460	Splice_Site	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	8569552	41165460	6964435	636	62754											
DSCAM	1826	broad.mit.edu	37	chr21	41668079	41668079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccgtcctggtcccgtggCtgaaccacaaacttgggagg	8	8	12	13	2	0	1	0	1	0	0	3	2	3	2	4	4	2	1	4	4	2	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:41668079C>A	ENST00000400454.1	-	10	2562	c.2085G>T	c.(2083-2085)caG>caT	p.Q695H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	695	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTCCCGTGGCTGAACCACAA	0.433													10	44					0.00829132	0.00882659	1	0	A	41668079	C	A	41668079	3	1	336	1	0	0	0	0	1	0	0	0	4804	796	28	4	4049	4	DSCAM	21	41668079	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	502619	41668079	6461816	637	62755											
UBASH3A	53347	broad.mit.edu	37	chr21	43833586	43833586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccctaacctgaggctgagCaatttaactagagcctcctt	10	10	9	12	0	0	3	0	2	0	1	1	3	1	3	4	2	4	2	4	2	4	5	rs144816086		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:43833586C>T	ENST00000319294.6	+	5	652	c.621C>T	c.(619-621)agC>agT	p.S207S	UBASH3A_ENST00000398367.1_Intron|UBASH3A_ENST00000291535.6_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	207						cytosol|nucleus		p.S207R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TGAGGCTGAGCAATTTAACTA	0.532													8	37					0	0	0	0	T	43833586	C	T	43833586	2	4	336	1	0	0	0	0	0	0	0	1	16935	709	25	4		4	UBASH3A	21	43833586	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	2165507	43833586	4296309	638	62756											
AIRE	326	broad.mit.edu	37	chr21	45710865	45710865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagcagggcagagactggGgagttcaggtacccagagat	11	5	18	7	0	1	2	1	0	0	2	1	6	1	4	1	5	2	4	1	5	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:45710865G>T	ENST00000355347.4	+	1	176	c.176G>T	c.(175-177)gGg>gTg	p.G59V	AIRE_ENST00000291582.5_Intron|AIRE_ENST00000329347.4_Missense_Mutation_p.G59V			O43918	AIRE_HUMAN	autoimmune regulator	257	HSR.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CAGAGACTGGGGAGTTCAGGT	0.627									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				15	109					2.32078e-09	3.23309e-09	1	0	T	45710865	G	T	45710865	3	4	336	1	0	0	0	0	1	0	0	0	437	1232	43	4	1085	4	AIRE	21	45710865	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1877279	45710865	2419030	639	62757											
TRPM2	7226	broad.mit.edu	37	chr21	45786768	45786768	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacttcaacatgaagccgcgGctgaagagcattttccgcag	12	8	10	11	3	1	3	1	2	0	1	2	3	2	3	2	1	4	3	2	1	4	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:45786768G>T	ENST00000397928.1	+	4	1000	c.555G>T	c.(553-555)cgG>cgT	p.R185R	TRPM2_ENST00000397932.2_Silent_p.R185R|TRPM2_ENST00000300482.5_Silent_p.R185R|TRPM2_ENST00000300481.9_Silent_p.R185R	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	185						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGAAGCCGCGGCTGAAGAGCA	0.632													6	44					0.00198382	0.00216905	1	0	T	45786768	G	T	45786768	2	4	336	1	0	0	0	0	0	0	0	1	16681	1190	42	4		4	TRPM2	21	45786768	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	75903	45786768	2343127	640	62758											
OSBP2	23762	broad.mit.edu	37	chr22	31283464	31283464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacacagtcggaaatggcagCgggcactgcagtatgagcag	12	6	14	9	2	0	1	0	1	0	0	1	2	0	2	0	3	4	5	0	3	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:31283464C>T	ENST00000332585.6	+	4	1263	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	OSBP2_ENST00000382310.3_Missense_Mutation_p.R387W|OSBP2_ENST00000437268.2_Missense_Mutation_p.R129W|OSBP2_ENST00000401475.1_Missense_Mutation_p.R21W|OSBP2_ENST00000535268.1_5'UTR|OSBP2_ENST00000407373.1_Missense_Mutation_p.R214W|OSBP2_ENST00000446658.2_Missense_Mutation_p.R387W|OSBP2_ENST00000403222.3_Missense_Mutation_p.R222W	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	387					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GAAATGGCAGCGGGCACTGCA	0.622													13	76					0	0	0	0	T	31283464	C	T	31283464	3	4	336	1	0	0	0	0	1	0	0	0	11345	759	27	1	1173	1	OSBP2	22	31283464	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08		31283464	20021102	641	62759											
INPP5J	27124	broad.mit.edu	37	chr22	31522450	31522450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggcggtggtgacgacagcGacggcgcagacatgatcgcc	8	5	17	11	6	0	3	0	2	0	1	1	5	0	3	1	4	1	1	1	4	0	0	rs150976596	by1000genomes	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:31522450G>A	ENST00000331075.5	+	3	1409	c.1360G>A	c.(1360-1362)Gac>Aac	p.D454N	INPP5J_ENST00000412277.2_Missense_Mutation_p.D387N|INPP5J_ENST00000405300.1_Missense_Mutation_p.D87N|INPP5J_ENST00000404390.3_Missense_Mutation_p.D86N|INPP5J_ENST00000400294.2_Missense_Mutation_p.D87N			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	454	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						TGACGACAGCGACGGCGCAGA	0.667													12	175					0	0	0	0	A	31522450	G	A	31522450	3	1	336	1	0	0	0	0	1	0	0	0	7812	1058	37	1	266	1	INPP5J	22	31522450	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	238986	31522450	19782116	642	62760											
SH3BP1	23616	broad.mit.edu	37	chr22	38046214	38046214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccaggtggtgggcgtcGtcgaggcgctgatccagagc	6	7	16	12	4	0	2	0	1	0	1	4	3	2	2	3	4	1	1	3	4	0	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:38046214G>T	ENST00000599616.1	+	13	1180	c.1180G>T	c.(1180-1182)Gtc>Ttc	p.V394F	SH3BP1_ENST00000442465.2_Silent_p.S490S|SH3BP1_ENST00000357436.4_Missense_Mutation_p.V458F|Z83844.1_ENST00000456099.1_RNA			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	458	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GGTGGGCGTCGTCGAGGCGCT	0.637													8	34					5.18039e-06	6.40024e-06	1	0	T	38046214	G	T	38046214	3	4	336	1	0	0	0	0	1	0	0	0	14331	1145	40	3	1430	3	SH3BP1	22	38046214	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	6523764	38046214	13258352	643	62761											
WBP2NL	164684	broad.mit.edu	37	chr22	42418311	42418311	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctctatgggaatttaTgtaattactggggaagggaa	12	13	12	4	0	2	0	1	0	1	0	2	3	2	3	0	4	2	2	0	4	7	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:42418311T>A	ENST00000328823.9	+	5	496	c.465T>A	c.(463-465)taT>taA	p.Y155*	WBP2NL_ENST00000543212.1_Nonsense_Mutation_p.Y81*	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	155					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TGGGAATTTATGTAATTACTG	0.418													20	119					0	0	0	0	A	42418311	T	A	42418311	4	1	336	1	0	0	0	0	0	1	0	0	17356	1471	51	5	483	5	WBP2NL	22	42418311	Nonsense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	4372097	42418311	8886255	644	62762											
TCF20	6942	broad.mit.edu	37	chr22	42607617	42607617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcagcataacactaccaGgtttggatgactgtgtagcc	10	11	10	10	0	1	1	1	1	1	0	2	2	1	2	2	2	4	3	2	2	3	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:42607617G>A	ENST00000359486.3	-	1	3831	c.3695C>T	c.(3694-3696)cCt>cTt	p.P1232L	TCF20_ENST00000335626.4_Missense_Mutation_p.P1232L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AACACTACCAGGTTTGGATGA	0.498													9	79					0	0	0	0	A	42607617	G	A	42607617	3	1	336	1	0	0	0	0	1	0	0	0	15784	1000	35	4	2225	4	TCF20	22	42607617	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	189306	42607617	8696949	645	62763											
CD99	4267	broad.mit.edu	37	chrX	2645376	2645376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgtattgggatccgccGtgaagctgggaagtaagccc	9	9	13	10	2	0	1	0	1	0	0	1	3	1	3	4	2	2	3	4	2	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:2645376G>T	ENST00000381184.1	+	9	599	c.518G>T	c.(517-519)cGt>cTt	p.R173L	CD99_ENST00000381192.3_Intron|CD99_ENST00000482405.2_Intron|CD99_ENST00000381187.3_Intron			P14209	CD99_HUMAN	CD99 molecule	0			N -> I (in dbSNP:rs4717).		cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						GGGATCCGCCGTGAAGCTGGG	0.502													6	22					0.00198382	0.00216905	1	0	T	2645376	G	T	2645376	3	4	336	1	0	0	0	0	1	0	0	0	3079	1160	40	3		3	CD99	23	2645376	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08		2645376	152625184	646	62764											
MXRA5	25878	broad.mit.edu	37	chrX	3239484	3239484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggaagtgaaatccacatcCtcaagctctttaagaagggg	13	9	10	9	1	2	2	1	1	1	1	5	3	4	3	2	3	1	1	2	3	5	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:3239484C>A	ENST00000217939.6	-	5	4396	c.4242G>T	c.(4240-4242)gaG>gaT	p.E1414D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1414						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AATCCACATCCTCAAGCTCTT	0.488													20	26					5.35267e-07	6.86501e-07	1	0	A	3239484	C	A	3239484	3	1	336	1	0	0	0	0	1	0	0	0	10073	680	24	4	4256	4	MXRA5	23	3239484	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	594108	3239484	152031076	647	62765											
FAM9A	171482	broad.mit.edu	37	chrX	8764377	8764377	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcctgtaagctgctttatcTatttttatcatttctctttt	6	24	3	8	0	3	0	1	0	2	0	5	0	4	0	1	0	2	3	1	0	4	11			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:8764377T>C	ENST00000543214.1	-	6	555	c.420A>G	c.(418-420)atA>atG	p.I140M	FAM9A_ENST00000381003.3_Missense_Mutation_p.I140M	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	140						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTGCTTTATCTATTTTTATCA	0.303													3	9					0	0	0	0	C	8764377	T	C	8764377	3	2	336	1	0	0	0	0	1	0	0	0	5704	1512	53	5	594	5	FAM9A	23	8764377	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	5524893	8764377	146506183	648	62766											
MAGEB6	158809	broad.mit.edu	37	chrX	26212255	26212255	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagtccaagcacctccCgtgatgcctccgttcctcag	10	8	8	15	2	1	2	1	1	0	1	5	2	5	2	6	0	2	2	6	0	3	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:26212255C>A	ENST00000379034.1	+	2	441	c.292C>A	c.(292-294)Cgt>Agt	p.R98S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	98	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAGCACCTCCCGTGATGCCTC	0.537													11	49					2.27111e-07	2.94552e-07	1	0	A	26212255	C	A	26212255	3	1	336	1	0	0	0	0	1	0	0	0	9248	652	23	3	294	3	MAGEB6	23	26212255	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	17447878	26212255	129058305	649	62767											
FAM47A	158724	broad.mit.edu	37	chrX	34148482	34148482	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttaaacttttggtcctcatgGgttgctctgtacttgggggt	5	17	12	7	0	2	0	1	0	1	0	3	0	3	0	1	4	3	3	1	4	3	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:34148482G>T	ENST00000346193.3	-	1	1965	c.1914C>A	c.(1912-1914)acC>acA	p.T638T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	638										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGTCCTCATGGGTTGCTCTGT	0.453													6	33					3.59834e-05	4.23827e-05	1	0	T	34148482	G	T	34148482	2	4	336	1	0	0	0	0	0	0	0	1	5616	1219	43	4		4	FAM47A	23	34148482	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	7936227	34148482	121122078	650	62768											
KDM6A	7403	broad.mit.edu	37	chrX	44929078	44929078	+	Silent	SNP	G	G	T																															ccttcaggaaacatattgacGgtgcctgaaacaagcaggca																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:44929078G>T	ENST00000377967.4	+	17	2219	c.2178G>T	c.(2176-2178)acG>acT	p.T726T	KDM6A_ENST00000382899.4_Silent_p.T733T|KDM6A_ENST00000543216.1_Silent_p.T647T|KDM6A_ENST00000536777.1_Silent_p.T681T	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	726			T -> K (in dbSNP:rs2230018).		histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACATATTGACGGTGCCTGAAA	0.507			"D, N, F, S"		"renal, oesophageal SCC, MM"								3	21					0.004672	0.00498676	1	0	T	44929078	G	T	44929078	2	4	336	1	0	0	0	0	0	0	0	1	8189	1103	39	3		3	KDM6A	23	44929078	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	10780596	44929078	110341482	651	62769	753	2									
KDM6A	7403	broad.mit.edu	37	chrX	44929079	44929079	+	Missense_Mutation	SNP	G	G	T																															cttcaggaaacatattgacgGtgcctgaaacaagcaggcac																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:44929079G>T	ENST00000377967.4	+	17	2220	c.2179G>T	c.(2179-2181)Gtg>Ttg	p.V727L	KDM6A_ENST00000382899.4_Missense_Mutation_p.V734L|KDM6A_ENST00000543216.1_Missense_Mutation_p.V648L|KDM6A_ENST00000536777.1_Missense_Mutation_p.V682L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	727					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CATATTGACGGTGCCTGAAAC	0.507			"D, N, F, S"		"renal, oesophageal SCC, MM"								3	22					0.004672	0.00498676	1	0	T	44929079	G	T	44929079	3	4	336	1	0	0	0	0	1	0	0	0	8189	1261	44	4	2245	4	KDM6A	23	44929079	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1	44929079	110341481	652	62770	753	2									
UXT	8409	broad.mit.edu	37	chrX	47518279	47518279	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggtctcgtagcgcagcacTttctcccccgtggcctccac	6	9	9	17	3	2	0	0	0	2	0	5	0	3	0	4	2	2	3	4	2	2	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:47518279T>C	ENST00000335890.2	-	1	237	c.84A>G	c.(82-84)aaA>aaG	p.K28K	UXT_ENST00000333119.3_Silent_p.K16K|RP1-212G6.7_ENST00000591832.1_RNA|RP1-212G6.7_ENST00000590504.1_RNA	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	16					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AGCGCAGCACTTTCTCCCCCG	0.652													5	10					0	0	0	0	C	47518279	T	C	47518279	2	2	336	1	0	0	0	0	0	0	0	1	17206	1606	56	5		5	UXT	23	47518279	Silent	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	2589200	47518279	107752281	653	62771											
GAGE2B	645037	broad.mit.edu	37	chrX	49236841	49236841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtgaaatatgagttggcGaggaagatcgacctatcggc	12	9	14	6	3	0	3	0	2	0	1	2	6	0	4	1	3	0	1	1	3	4	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:49236841G>A	ENST00000381725.1	+	2	94	c.11G>A	c.(10-12)cGa>cAa	p.R4Q		NM_001098411.3	NP_001091881.1			G antigen 2B																		ATGAGTTGGCGAGGAAGATCG	0.463													20	167					0	0	0	0	A	49236841	G	A	49236841	3	1	336	1	0	0	0	0	1	0	0	0	6239	1058	37	1	13	1	GAGE2B	23	49236841	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1718562	49236841	106033719	654	62772											
GAGE1	2543	broad.mit.edu	37	chrX	49369621	49369621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaggtctcactatgttGcccagactgggattctctgg	8	12	12	9	0	2	3	1	1	2	2	4	4	2	4	1	3	1	1	1	3	1	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:49369621G>A	ENST00000381709.2	+	5	463	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	GAGE1_ENST00000381700.6_Intron			Q13065	GAGE1_HUMAN	G antigen 1	118					cellular defense response							Ovarian(276;0.236)					tcactatgttgcccagactgg	0.423													5	25					0	0	0	0	A	49369621	G	A	49369621	3	1	336	1	0	0	0	0	1	0	0	0	6234	1319	46	4	366	4	GAGE1	23	49369621	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	132780	49369621	105900939	655	62773											
HEPH	9843	broad.mit.edu	37	chrX	65417576	65417576	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgagaaagtaacataccGctggacagtcccccctcatg	11	9	8	13	1	1	1	1	1	0	1	2	3	2	2	4	1	2	2	4	1	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:65417576G>C	ENST00000519389.1	+	10	1894	c.1715G>C	c.(1714-1716)cGc>cCc	p.R572P	HEPH_ENST00000419594.1_Intron|HEPH_ENST00000343002.2_Missense_Mutation_p.R518P|HEPH_ENST00000441993.2_Missense_Mutation_p.R521P|HEPH_ENST00000336279.5_Missense_Mutation_p.R251P|HEPH_ENST00000374727.3_Missense_Mutation_p.R521P			Q9BQS7	HEPH_HUMAN	hephaestin	518	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTAACATACCGCTGGACAGTC	0.473													9	30					0	0	0	0	C	65417576	G	C	65417576	3	2	336	1	0	0	0	0	1	0	0	0	7104	1087	38	3	1753	3	HEPH	23	65417576	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	16047955	65417576	89852984	656	62774											
KIF4A	24137	broad.mit.edu	37	chrX	69606538	69606538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaatccaatgtgctcagacGtaaaacggaggaggtaagaa	17	6	11	7	2	1	2	1	0	0	2	2	4	2	4	1	3	2	3	1	3	6	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:69606538G>A	ENST00000374403.3	+	19	2187	c.2105G>A	c.(2104-2106)cGt>cAt	p.R702H	KIF4A_ENST00000374388.3_Missense_Mutation_p.R702H	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	702	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GTGCTCAGACGTAAAACGGAG	0.378													14	14					0	0	0	0	A	69606538	G	A	69606538	3	1	336	1	0	0	0	0	1	0	0	0	8354	1145	40	1	2175	1	KIF4A	23	69606538	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	4188962	69606538	85664022	657	62775											
ERCC6L	54821	broad.mit.edu	37	chrX	71424931	71424932	+	Frame_Shift_Ins	INS	-	-	T																															ttcaggatctgcactttttaINStgtcaagcgctttaactaag																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:71424931_71424932insT	ENST00000373657.1	-	3	3918_3919	c.3316_3317insA	c.(3316-3318)aaafs	p.K1106fs	ERCC6L_ENST00000334463.3_Frame_Shift_Ins_p.K1229fs|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1229					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGCACTTTTTATGTCAAGCGCT	0.347													12	26	---	---	---	---					T	71424932	-	T	71424931	7	5	336	1	0	1	1	0	0	0	0	0	5256	449	16	0	70	0	ERCC6L	23	71424931	Frame_Shift_Ins	INS	-	TCGA-CV-A45W-01A-11D-A25D-08	1818393	71424931	83845629	658	62776											
MAGEE1	57692	broad.mit.edu	37	chrX	75650600	75650600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagttatttctgcttatGgattcaactaagctgcctat	9	16	8	8	0	2	0	1	0	1	0	2	1	2	1	1	1	5	4	1	1	5	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:75650600G>T	ENST00000361470.2	+	1	2555	c.2277G>T	c.(2275-2277)atG>atT	p.M759I		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	759	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TTCTGCTTATGGATTCAACTA	0.478													18	42					9.16793e-09	1.24709e-08	1	0	T	75650600	G	T	75650600	3	4	336	1	0	0	0	0	1	0	0	0	9254	1348	47	4	2279	4	MAGEE1	23	75650600	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	4225669	75650600	79619960	659	62777											
RPS6KA6	27330	broad.mit.edu	37	chrX	83352785	83352785	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatatgtttcttacccagcCaacattgtgtaaaaaaggac	15	12	6	8	0	1	0	0	0	1	0	1	1	1	1	2	1	3	2	2	1	7	6			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:83352785C>A	ENST00000262752.2	-	19	1855	c.1848G>T	c.(1846-1848)ttG>ttT	p.L616F	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.L616F|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	616	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTACCCAGCCAACATTGTGT	0.308													7	73					0.00307968	0.00332671	1	0	A	83352785	C	A	83352785	3	1	336	1	0	0	0	0	1	0	0	0	13740	593	21	4	405	4	RPS6KA6	23	83352785	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	7702185	83352785	71917775	660	62778											
HDX	139324	broad.mit.edu	37	chrX	83723604	83723604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtatgtaatgaggtcCgtggtgtcaaatggtagttt	9	15	13	4	1	1	1	1	1	0	0	2	1	2	1	1	3	1	5	1	3	4	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:83723604C>A	ENST00000297977.5	-	3	1238	c.1127G>T	c.(1126-1128)cGg>cTg	p.R376L	HDX_ENST00000506585.2_Missense_Mutation_p.R318L|HDX_ENST00000373177.2_Missense_Mutation_p.R376L	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	376						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TAATGAGGTCCGTGGTGTCAA	0.363													5	22					0.000602214	0.000673014	1	0	A	83723604	C	A	83723604	3	1	336	1	0	0	0	0	1	0	0	0	7076	652	23	3	977	3	HDX	23	83723604	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	370819	83723604	71546956	661	62779											
PCDH11X	27328	broad.mit.edu	37	chrX	91090943	91090943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaacagttatcaacatatCaattccagagaactcggcta	16	9	6	10	1	2	1	2	0	0	1	4	2	3	1	1	1	4	3	1	1	7	4			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:91090943C>T	ENST00000373094.1	+	1	1285	c.440C>T	c.(439-441)tCa>tTa	p.S147L	PCDH11X_ENST00000406881.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S147L|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S147L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S147L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S147L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	147	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCAACATATCAATTCCAGAG	0.363													11	31					0	0	0	0	T	91090943	C	T	91090943	3	4	336	1	0	0	0	0	1	0	0	0	11579	838	29	2	442	2	PCDH11X	23	91090943	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	7367339	91090943	64179617	662	62780											
TCEAL6	158931	broad.mit.edu	37	chrX	101396231	101396231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgactttccttcatcatCaggctctacttcatcttctg	6	17	5	13	0	8	1	4	1	4	0	9	1	9	1	1	1	1	1	1	1	1	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:101396231C>T	ENST00000372774.3	-	3	322	c.73G>A	c.(73-75)Gat>Aat	p.D25N	TCEAL6_ENST00000372773.1_Missense_Mutation_p.D25N	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	25	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ccttcatcatcaggctctact	0.488													3	20					0	0	0	0	T	101396231	C	T	101396231	3	4	336	1	0	0	0	0	1	0	0	0	15769	826	29	2	482	2	TCEAL6	23	101396231	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	10305288	101396231	53874329	663	62781											
GUCY2F	2986	broad.mit.edu	37	chrX	108652357	108652357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccccgaatcatagaagaaaCccaataaagggttaatattc	17	9	6	9	1	1	2	1	0	0	2	3	3	2	2	3	1	1	1	3	1	9	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:108652357C>T	ENST00000218006.2	-	9	2123	c.1832G>A	c.(1831-1833)gGt>gAt	p.G611D		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	611	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATAGAAGAAACCCAATAAAGG	0.443													22	45					0	0	0	0	T	108652357	C	T	108652357	3	4	336	1	0	0	0	0	1	0	0	0	6948	507	18	4	1538	4	GUCY2F	23	108652357	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	7256126	108652357	46618203	664	62782											
ALG13	79868	broad.mit.edu	37	chrX	111000960	111000960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtgaggtgaggagagaaGatggcatacaggcggaagca	15	4	17	5	1	0	4	0	2	0	2	0	7	0	6	0	5	2	2	0	5	3	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:111000960G>A	ENST00000394780.3	+	26	3130	c.3118G>A	c.(3118-3120)Gat>Aat	p.D1040N	ALG13_ENST00000251943.4_Missense_Mutation_p.D857N|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1040					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						GAGGAGAGAAGATGGCATACA	0.433													6	35					0	0	0	0	A	111000960	G	A	111000960	3	1	336	1	0	0	0	0	1	0	0	0	515	942	33	2	3362	2	ALG13	23	111000960	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2348603	111000960	44269600	665	62783											
TRPC5	7224	broad.mit.edu	37	chrX	111090557	111090557	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggagttggctgtgaacagGgatatgagacgcaacgaact	12	8	15	6	2	0	2	0	2	0	1	0	6	0	4	0	3	3	3	0	3	4	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:111090557G>T	ENST00000262839.2	-	6	2403	c.1485C>A	c.(1483-1485)tcC>tcA	p.S495S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	495					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGTGAACAGGGATATGAGAC	0.483													20	45					7.41877e-09	1.01428e-08	1	0	T	111090557	G	T	111090557	2	4	336	1	0	0	0	0	0	0	0	1	16677	1219	43	4		4	TRPC5	23	111090557	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	89597	111090557	44180003	666	62784											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685408	125685408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttcctccttgcaggtcccGaagaggactccagggtggcg	6	8	14	13	2	0	1	0	0	0	1	4	3	4	2	4	4	1	2	4	4	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:125685408G>A	ENST00000371126.1	-	1	1426	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	395										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TGCAGGTCCCGAAGAGGACTC	0.572													10	46					0	0	0	0	A	125685408	G	A	125685408	3	1	336	1	0	0	0	0	1	0	0	0	4297	1059	37	1	211	1	DCAF12L1	23	125685408	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	14594851	125685408	29585152	667	62785											
USP26	83844	broad.mit.edu	37	chrX	132159731	132159731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcacagatataatggcCtgactttagagtcttcccaa	12	11	8	10	0	2	3	1	1	1	2	3	3	3	3	2	2	0	1	2	2	4	5			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:132159731C>A	ENST00000511190.1	-	6	2987	c.2518G>T	c.(2518-2520)Ggc>Tgc	p.G840C	USP26_ENST00000370832.1_Missense_Mutation_p.G840C|USP26_ENST00000406273.1_Missense_Mutation_p.G840C	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	840					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATATAATGGCCTGACTTTAGA	0.433													17	39					8.60227e-14	1.29676e-13	1	0	A	132159731	C	A	132159731	3	1	336	1	0	0	0	0	1	0	0	0	17153	681	24	4	226	4	USP26	23	132159731	Missense_Mutation	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	6474323	132159731	23110829	668	62786											
MAGEC1	9947	broad.mit.edu	37	chrX	140996140	140996140	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacacattagacctcaccTctgaggggtgtctgagtgat	11	11	10	9	0	3	4	1	3	2	1	3	4	3	4	2	2	1	0	2	2	3	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:140996140T>A	ENST00000285879.4	+	4	3236	c.2950T>A	c.(2950-2952)Tct>Act	p.S984T	MAGEC1_ENST00000406005.2_Missense_Mutation_p.S51T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	984	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGACCTCACCTCTGAGGGGTG	0.478										HNSCC(15;0.026)			23	85					0	0	0	0	A	140996140	T	A	140996140	3	1	336	1	0	0	0	0	1	0	0	0	9249	1551	54	5	2956	5	MAGEC1	23	140996140	Missense_Mutation	SNP	T	TCGA-CV-A45W-01A-11D-A25D-08	8836409	140996140	14274420	669	62787											
SPANXN2	494119	broad.mit.edu	37	chrX	142795316	142795316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttcgtcctcctgtgaaGatccttcagatgagtccagg	7	12	11	11	1	2	4	1	2	1	2	7	4	6	4	4	2	0	0	4	2	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:142795316G>T	ENST00000370498.1	-	2	1115	c.362C>A	c.(361-363)tCt>tAt	p.S121Y		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	121								p.K49K(1)|p.S121F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGAAGATCCTTCAGA	0.522													19	211					1.67305e-13	2.50337e-13	1	0	T	142795316	G	T	142795316	3	4	336	1	0	0	0	0	1	0	0	0	15081	942	33	2	184	2	SPANXN2	23	142795316	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	1799176	142795316	12475244	670	62788											
SPANXN2	494119	broad.mit.edu	37	chrX	142795355	142795355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttcgtcctcctgtgaaGatccttcagatgagtccagg	7	12	11	11	1	2	4	1	2	1	2	7	4	6	4	4	2	0	0	4	2	1	2			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:142795355G>T	ENST00000370498.1	-	2	1076	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	108										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGAAGATCCTTCAGA	0.527													21	249					2.20474e-14	3.34855e-14	1	0	T	142795355	G	T	142795355	3	4	336	1	0	0	0	0	1	0	0	0	15081	942	33	2	223	2	SPANXN2	23	142795355	Missense_Mutation	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	39	142795355	12475205	671	62789											
SLITRK2	84631	broad.mit.edu	37	chrX	144903949	144903949	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaaggtgcctaaagatgctGagcggcgtttggttcctcag	8	10	14	9	3	1	2	1	1	0	1	2	3	2	2	2	3	3	3	2	3	3	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:144903949G>A	ENST00000370490.1	+	1	4261	c.6G>A	c.(4-6)ctG>ctA	p.L2L	SLITRK2_ENST00000447897.2_Silent_p.L2L|SLITRK2_ENST00000428560.2_Silent_p.L2L|SLITRK2_ENST00000413937.2_Silent_p.L2L|SLITRK2_ENST00000434188.2_Silent_p.L2L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	2						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TAAAGATGCTGAGCGGCGTTT	0.537													4	16					0	0	0	0	A	144903949	G	A	144903949	2	1	336	1	0	0	0	0	0	0	0	1	14831	1277	45	2		2	SLITRK2	23	144903949	Silent	SNP	G	TCGA-CV-A45W-01A-11D-A25D-08	2108594	144903949	10366611	672	62790											
SLITRK2	84631	broad.mit.edu	37	chrX	144904773	144904773	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtcagaggggcagccAtgctgacacccacgtccaaa	11	6	10	14	1	1	2	1	1	0	1	3	2	3	2	4	2	2	2	4	2	1	1			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:144904773A>T	ENST00000370490.1	+	1	5085	c.830A>T	c.(829-831)cAt>cTt	p.H277L	SLITRK2_ENST00000447897.2_Missense_Mutation_p.H277L|SLITRK2_ENST00000428560.2_Missense_Mutation_p.H277L|SLITRK2_ENST00000413937.2_Missense_Mutation_p.H277L|SLITRK2_ENST00000434188.2_Missense_Mutation_p.H277L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	277						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGCAGCCATGCTGACACC	0.557													15	74					0	0	0	0	T	144904773	A	T	144904773	3	4	336	1	0	0	0	0	1	0	0	0	14831	217	8	5	832	5	SLITRK2	23	144904773	Missense_Mutation	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	824	144904773	10365787	673	62791											
MAGEA4	4103	broad.mit.edu	37	chrX	151092158	151092159	+	Frame_Shift_Ins	INS	-	-	A																															gtcttctgagcagaagagtcINSagcactgcaagcctgaggaa																										TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:151092158_151092159insA	ENST00000370340.3	+	3	289_290	c.22_23insA	c.(22-24)gcafs	p.A8fs	MAGEA4_ENST00000393921.1_Frame_Shift_Ins_p.A8fs|MAGEA4_ENST00000276344.2_Frame_Shift_Ins_p.A8fs|MAGEA4_ENST00000370337.4_Frame_Shift_Ins_p.A8fs|MAGEA4_ENST00000360243.2_Frame_Shift_Ins_p.A8fs|MAGEA4_ENST00000370335.1_Frame_Shift_Ins_p.A8fs|MAGEA4_ENST00000393920.1_Frame_Shift_Ins_p.A8fs			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	8							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAAGAGTCAGCACTGCAAG	0.609													13	36	---	---	---	---					A	151092159	-	A	151092158	7	5	336	1	0	1	1	0	0	0	0	0	9235	827	29	0	24	0	MAGEA4	23	151092158	Frame_Shift_Ins	INS	-	TCGA-CV-A45W-01A-11D-A25D-08	6187385	151092158	4178402	674	62792											
ATP2B3	492	broad.mit.edu	37	chrX	152823749	152823749	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtggccttcacaggtgcCtgcattactcaggtgggtac	7	11	12	11	1	2	0	2	0	0	0	3	0	2	0	2	4	4	2	2	4	2	3			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:152823749C>G	ENST00000370186.1	+	15	2897	c.2571C>G	c.(2569-2571)gcC>gcG	p.A857A	ATP2B3_ENST00000359149.3_Silent_p.A871A|ATP2B3_ENST00000263519.4_Silent_p.A871A|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Silent_p.A857A|ATP2B3_ENST00000349466.2_Silent_p.A871A|ATP2B3_ENST00000370181.2_Silent_p.A857A			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	871					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCACAGGTGCCTGCATTACTC	0.557													6	38					0	0	0	0	G	152823749	C	G	152823749	2	3	336	1	0	0	0	0	0	0	0	1	1145	668	24	4		4	ATP2B3	23	152823749	Silent	SNP	C	TCGA-CV-A45W-01A-11D-A25D-08	1731591	152823749	2446811	675	62793											
PLXNB3	5365	broad.mit.edu	37	chrX	153042340	153042340	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgctccccatctctgccAggtcccagatggagcaacag	8	7	9	17	1	1	1	0	0	1	1	5	2	4	2	5	2	3	2	5	2	1	0			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:153042340A>T	ENST00000538966.1	+	30	5173		c.e30-1		SRPK3_ENST00000489426.1_Splice_Site|PLXNB3_ENST00000538776.1_Splice_Site|PLXNB3_ENST00000361971.5_Splice_Site	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3						axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCTCTGCCAGGTCCCAGAT	0.692													3	5					0	0	0	0	T	153042340	A	T	153042340	5	4	336	1	0	0	0	0	0	0	1	0	12197	202	7	5	5060	5	PLXNB3	23	153042340	Splice_Site	SNP	A	TCGA-CV-A45W-01A-11D-A25D-08	218591	153042340	2228220	676	62794											
MTOR	2475	broad.mit.edu	37	chr1	11319340	11319340	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgacatagtgctggagctCcttggcggctttggccctgg	4	11	16	10	1	0	1	0	1	0	0	1	2	1	2	2	6	2	3	2	6	1	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:11319340C>A	ENST00000361445.4	-	2	203	c.127G>T	c.(127-129)Gag>Tag	p.E43*		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	43					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGCTGGAGCTCCTTGGCGGCT	0.557													20	95					7.45023e-12	8.87202e-12	1	0	A	11319340	C	A	11319340	4	1	337	1	0	0	0	0	0	1	0	0	10024	864	30	2	7750	2	MTOR	1	11319340	Nonsense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08		11319340	237931281	1	62795											
CLIC4	25932	broad.mit.edu	37	chr1	25167425	25167425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagccaaaagactcaccaaGtaaaatcgcgtttgtaaaag	17	8	8	8	2	1	1	1	0	0	1	2	1	1	1	2	0	1	4	2	0	8	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:25167425G>A	ENST00000374379.4	+	6	956	c.759G>A	c.(757-759)aaG>aaA	p.K253K		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	253					cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		GACTCACCAAGTAAAATCGCG	0.408													9	70					0	0	0	0	A	25167425	G	A	25167425	2	1	337	1	0	0	0	0	0	0	0	1	3558	1020	36	4		4	CLIC4	1	25167425	Silent	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	13848085	25167425	224083196	2	62796											
CYP4B1	1580	broad.mit.edu	37	chr1	47279207	47279207	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgacatcttctgcgaTgtgggtcacatggcgctgaa	7	13	11	10	2	3	2	1	2	2	0	4	3	4	2	1	2	1	1	1	2	1	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:47279207T>C	ENST00000271153.4	+	5	585	c.549T>C	c.(547-549)gaT>gaC	p.D183D	CYP4B1_ENST00000371919.4_Silent_p.D168D|CYP4B1_ENST00000371923.4_Silent_p.D183D|CYP4B1_ENST00000452782.2_Silent_p.D20D			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	183					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TCTTCTGCGATGTGGGTCACA	0.587													6	57					0	0	0	0	C	47279207	T	C	47279207	2	2	337	1	0	0	0	0	0	0	0	1	4217	1461	51	5		5	CYP4B1	1	47279207	Silent	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08	22111782	47279207	201971414	3	62797											
SLC5A9	200010	broad.mit.edu	37	chr1	48703424	48703424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagctccaacagtgggcagCtcttcgactacatccaggct	11	8	9	13	1	1	0	0	0	1	0	4	1	3	0	2	2	4	4	2	2	3	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:48703424C>G	ENST00000236495.5	+	12	1491	c.1441C>G	c.(1441-1443)Ctc>Gtc	p.L481V	SLC5A9_ENST00000533824.1_Missense_Mutation_p.L477V|SLC5A9_ENST00000438567.2_Missense_Mutation_p.L456V	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	456						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CAGTGGGCAGCTCTTCGACTA	0.572													7	64					0	0	0	0	G	48703424	C	G	48703424	3	3	337	1	0	0	0	0	1	0	0	0	14760	797	28	4	1487	4	SLC5A9	1	48703424	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	1424217	48703424	200547197	4	62798											
ZFYVE9	9372	broad.mit.edu	37	chr1	52705057	52705057	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttatgaggctgagatCtccactagaccatgccttgc	11	10	10	10	0	1	3	0	2	1	2	2	5	1	3	3	1	2	2	3	1	3	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:52705057C>A	ENST00000287727.3	+	4	2140	c.1968C>A	c.(1966-1968)atC>atA	p.I656I	ZFYVE9_ENST00000361625.1_Silent_p.I656I|ZFYVE9_ENST00000357206.2_Silent_p.I656I|ZFYVE9_ENST00000371591.1_Silent_p.I656I	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	656					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGGCTGAGATCTCCACTAGAC	0.443													29	87					1.16021e-09	1.34069e-09	1	0	A	52705057	C	A	52705057	2	1	337	1	0	0	0	0	0	0	0	1	17766	903	32	2		2	ZFYVE9	1	52705057	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	4001633	52705057	196545564	5	62799											
ZCCHC11	23318	broad.mit.edu	37	chr1	52901118	52901118	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctgttgagcatttacaagGttgcggaccagctgggctgc	8	10	13	10	1	0	1	0	1	0	0	0	2	0	2	2	3	5	5	2	3	2	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:52901118G>A	ENST00000371544.3	-	27	4441	c.4179C>T	c.(4177-4179)aaC>aaT	p.N1393N	ZCCHC11_ENST00000257177.4_Silent_p.N1394N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1393					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CATTTACAAGGTTGCGGACCA	0.438													5	35					0	0	0	0	A	52901118	G	A	52901118	2	1	337	1	0	0	0	0	0	0	0	1	17675	1252	44	4		4	ZCCHC11	1	52901118	Silent	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	196061	52901118	196349503	6	62800											
FPGT	8790	broad.mit.edu	37	chr1	74670333	74670333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctagtttgacgataggtaCcacacatggagtatttgtct	10	15	9	7	1	2	1	0	1	2	0	2	3	2	2	1	2	1	3	1	2	4	7			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:74670333C>T	ENST00000370898.2	+	4	639	c.602C>T	c.(601-603)aCc>aTc	p.T201I	FPGT_ENST00000370894.4_Intron|FPGT_ENST00000534056.1_Intron|TNNI3K_ENST00000370893.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ACGATAGGTACCACACATGGA	0.363													5	70					0	0	0	0	T	74670333	C	T	74670333	3	4	337	1	0	0	0	0	1	0	0	0	6084	507	18	4	616	4	FPGT	1	74670333	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	21769215	74670333	174580288	7	62801											
LPPR4	9890	broad.mit.edu	37	chr1	99772531	99772531	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactagaaatatcttctacAaaggaacctcccccacacgg	15	7	5	14	1	2	1	0	0	2	1	3	2	3	2	3	2	2	0	3	2	6	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:99772531A>C	ENST00000370185.3	+	7	2754	c.2257A>C	c.(2257-2259)Aaa>Caa	p.K753Q	LPPR4_ENST00000370184.1_Missense_Mutation_p.K595Q|LPPR4_ENST00000457765.1_Missense_Mutation_p.K695Q	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		753							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TATCTTCTACAAAGGAACCTC	0.458													12	66					0	0	0	0	C	99772531	A	C	99772531	3	2	337	1	0	0	0	0	1	0	0	0	8991	131	5	5	2283	5	LPPR4	1	99772531	Missense_Mutation	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08	25102198	99772531	149478090	8	62802											
SORT1	6272	broad.mit.edu	37	chr1	109870185	109870185	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccattggaacattcagtttCtgggagatgctgtaggaagc	10	11	13	7	0	2	1	1	0	1	1	2	4	2	3	1	3	3	3	1	3	3	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:109870185C>T	ENST00000256637.6	-	12	1468	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	SORT1_ENST00000538502.1_Silent_p.Q333Q	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	470					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CATTCAGTTTCTGGGAGATGC	0.438													9	34					0	0	0	0	T	109870185	C	T	109870185	2	4	337	1	0	0	0	0	0	0	0	1	15023	912	32	2		2	SORT1	1	109870185	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	10097654	109870185	139380436	9	62803											
HRNR	388697	broad.mit.edu	37	chr1	152191029	152191029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctgagccagacctatatgGgccatagctggaagactgcc	10	7	11	13	0	0	3	0	1	0	2	0	4	0	4	5	2	3	1	5	2	4	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:152191029G>A	ENST00000368801.2	-	3	3151	c.3076C>T	c.(3076-3078)Cca>Tca	p.P1026S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1026					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTATATGGGCCATAGCTG	0.602													109	177					0	0	0	0	A	152191029	G	A	152191029	3	1	337	1	0	0	0	0	1	0	0	0	7409	1232	43	4	5480	4	HRNR	1	152191029	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	42320844	152191029	97059592	10	62804											
PMF1	11243	broad.mit.edu	37	chr1	156209338	156209338	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtctcccattgatttcaGgctctacacagagaacagag	11	11	9	10	0	3	3	1	1	2	2	4	4	3	3	1	1	2	2	1	1	2	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:156209338G>T	ENST00000368277.3	+	5	573		c.e5-1		PMF1-BGLAP_ENST00000320139.5_Intron|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1_ENST00000368279.3_Splice_Site|PMF1-BGLAP_ENST00000490491.1_Intron|PMF1_ENST00000565805.1_Intron|PMF1_ENST00000567140.1_Intron|PMF1_ENST00000368273.4_Splice_Site	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					ATTGATTTCAGGCTCTACACA	0.567													23	89					1.42536e-11	1.67185e-11	1	0	T	156209338	G	T	156209338	5	4	337	1	0	0	0	0	0	0	1	0	12205	1014	35	4	582	4	PMF1	1	156209338	Splice_Site	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	4018309	156209338	93041283	11	62805											
FCRL3	115352	broad.mit.edu	37	chr1	157667162	157667162	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtcagggtcatgggactCccctctatgggcgtggaaga	8	8	15	10	1	3	1	2	0	1	1	4	3	4	3	2	5	0	0	2	5	2	1			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:157667162C>A	ENST00000368184.3	-	6	903	c.612G>T	c.(610-612)ggG>ggT	p.G204G	FCRL3_ENST00000368186.5_Silent_p.G204G|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	204	Ig-like C2-type 3.					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)					TCATGGGACTCCCCTCTATGG	0.537													5	64					0.0215528	0.0216918	1	0	A	157667162	C	A	157667162	2	1	337	1	0	0	0	0	0	0	0	1	5841	842	30	2		2	FCRL3	1	157667162	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	1457824	157667162	91583459	12	62806											
CD1B	910	broad.mit.edu	37	chr1	158299853	158299853	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcctcctagagctcccctCaggaagcttactatggcacc	10	9	7	15	0	1	1	1	0	0	1	4	2	4	2	5	2	3	3	5	2	5	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:158299853C>T	ENST00000368168.3	-	3	503	c.396G>A	c.(394-396)ctG>ctA	p.L132L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	132					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GAGCTCCCCTCAGGAAGCTTA	0.488													35	163					0	0	0	0	T	158299853	C	T	158299853	2	4	337	1	0	0	0	0	0	0	0	1	3004	813	29	2		2	CD1B	1	158299853	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	632691	158299853	90950768	13	62807											
UAP1	6675	broad.mit.edu	37	chr1	162569111	162569111	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccatgcacctctaatcatCgatgagaatggagttcatga	12	12	8	9	1	3	2	2	2	1	1	5	5	4	3	2	1	1	2	2	1	2	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:162569111C>T	ENST00000271469.3	+	11	1829	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	UAP1_ENST00000367926.4_Silent_p.I492I|UAP1_ENST00000367925.1_Silent_p.I509I|UAP1_ENST00000367924.1_Silent_p.I508I|UAP1_ENST00000486089.1_3'UTR			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	509					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTCTAATCATCGATGAGAATG	0.343													3	34					0	0	0	0	T	162569111	C	T	162569111	2	4	337	1	0	0	0	0	0	0	0	1	16921	874	31	1		1	UAP1	1	162569111	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	4269258	162569111	86681510	14	62808											
ZBTB37	84614	broad.mit.edu	37	chr1	173839605	173839605	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaccctactgtttttgAacagctcctttctttctgtt	8	17	5	11	0	2	2	0	1	2	1	3	2	3	2	2	0	4	3	2	0	4	6			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:173839605A>G	ENST00000367704.1	+	3	641	c.242A>G	c.(241-243)gAa>gGa	p.E81G	ZBTB37_ENST00000427304.1_Missense_Mutation_p.E81G|ZBTB37_ENST00000367701.4_Missense_Mutation_p.E81G|ZBTB37_ENST00000367702.1_Missense_Mutation_p.E81G|ZBTB37_ENST00000432989.1_Missense_Mutation_p.E81G			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	81	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						ACTGTTTTTGAACAGCTCCTT	0.473													5	78					0	0	0	0	G	173839605	A	G	173839605	3	3	337	1	0	0	0	0	1	0	0	0	17633	246	9	5	244	5	ZBTB37	1	173839605	Missense_Mutation	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08	11270494	173839605	75411016	15	62809											
RGL1	23179	broad.mit.edu	37	chr1	183891453	183891453	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtacgagctggtgcaggTcatctcggaggacaaaggtg	10	7	17	7	2	2	0	1	0	1	0	3	4	2	3	0	6	3	3	0	6	2	1			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:183891453T>C	ENST00000304685.3	+	18	2668	c.2207T>C	c.(2206-2208)gTc>gCc	p.V736A	RGL1_ENST00000360851.3_Missense_Mutation_p.V701A|RGL1_ENST00000367531.1_Missense_Mutation_p.V736A|RGL1_ENST00000539189.1_Missense_Mutation_p.V672A|RGL1_ENST00000536277.1_Missense_Mutation_p.V699A	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	701					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGGTGCAGGTCATCTCGGAG	0.582											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	27					0	0	0	0	C	183891453	T	C	183891453	3	2	337	1	0	0	0	0	1	0	0	0	13358	1667	58	5	2273	5	RGL1	1	183891453	Missense_Mutation	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08	10051848	183891453	65359168	16	62810											
HMCN1	83872	broad.mit.edu	37	chr1	185902905	185902905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggagagtatcattgtatgGtttctagtgaaggtggatca	10	14	13	4	0	3	2	2	1	1	1	3	4	3	3	0	4	0	3	0	4	4	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:185902905G>C	ENST00000271588.4	+	11	2006	c.1777G>C	c.(1777-1779)Gtt>Ctt	p.V593L	HMCN1_ENST00000367492.2_Missense_Mutation_p.V593L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	593	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATTGTATGGTTTCTAGTGA	0.438													12	122					0	0	0	0	C	185902905	G	C	185902905	3	2	337	1	0	0	0	0	1	0	0	0	7270	1261	44	4	1819	4	HMCN1	1	185902905	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	2011452	185902905	63347716	17	62811											
DSTYK	25778	broad.mit.edu	37	chr1	205156746	205156746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccataggtgaagcggaggcGccgaagcttacagctctcct	9	7	12	13	3	1	1	0	1	1	0	2	3	1	2	3	3	4	2	3	3	4	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:205156746G>A	ENST00000367162.3	-	2	484	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	DSTYK_ENST00000367161.3_Missense_Mutation_p.R152C|DSTYK_ENST00000367160.4_Missense_Mutation_p.R152C	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	152						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AAGCGGAGGCGCCGAAGCTTA	0.587													5	45					0	0	0	0	A	205156746	G	A	205156746	3	1	337	1	0	0	0	0	1	0	0	0	4821	1087	38	1	2383	1	DSTYK	1	205156746	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	19253841	205156746	44093875	18	62812											
OR2M5	127059	broad.mit.edu	37	chr1	248309152	248309152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgggatctggagagggtcgtCgcaaagcttttactacctgt	8	12	13	8	2	1	1	0	0	1	1	3	3	1	2	1	3	3	2	1	3	3	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:248309152C>G	ENST00000366476.1	+	1	703	c.703C>G	c.(703-705)Cgc>Ggc	p.R235G		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R235C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AGAGGGTCGTCGCAAAGCTTT	0.473													88	171					0	0	0	0	G	248309152	C	G	248309152	3	3	337	1	0	0	0	0	1	0	0	0	11084	884	31	3	705	3	OR2M5	1	248309152	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	43152406	248309152	941469	19	62813											
OR2T1	26696	broad.mit.edu	37	chr1	248569809	248569809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcctcatggcctatgacCgctatgtggccatttgcaac	7	11	11	12	1	1	1	1	1	0	0	1	1	1	1	4	3	2	2	4	3	3	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr1:248569809C>T	ENST00000366474.1	+	1	514	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCTATGACCGCTATGTGGC	0.532													9	110					0	0	0	0	T	248569809	C	T	248569809	3	4	337	1	0	0	0	0	1	0	0	0	11087	652	23	1	516	1	OR2T1	1	248569809	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	260657	248569809	680812	20	62814											
SNTG2	54221	broad.mit.edu	37	chr2	1271277	1271277	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttcaacgtggagcttggCagcgagctggccatgtggga	7	10	16	8	2	1	0	1	0	0	0	1	3	1	2	1	4	4	4	1	4	1	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr2:1271277C>A	ENST00000308624.5	+	14	1347	c.1218C>A	c.(1216-1218)ggC>ggA	p.G406G	SNTG2_ENST00000407292.1_Silent_p.G279G	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	406	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGGAGCTTGGCAGCGAGCTGG	0.522													3	19					0.00909568	0.00927403	1	0	A	1271277	C	A	1271277	2	1	337	1	0	0	0	0	0	0	0	1	14963	697	25	4		4	SNTG2	2	1271277	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08		1271277	241928096	21	62815											
ITSN2	50618	broad.mit.edu	37	chr2	24516638	24516638	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatagataagcttattctGatattccttataaaaagaaa	18	13	5	5	0	1	4	0	1	1	3	2	4	2	4	1	0	1	1	1	0	9	8			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr2:24516638G>C	ENST00000355123.4	-	15	2085	c.1642C>G	c.(1642-1644)Cag>Gag	p.Q548E	ITSN2_ENST00000361999.3_Missense_Mutation_p.Q548E|ITSN2_ENST00000406921.3_Missense_Mutation_p.Q548E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	548					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTTATTCTGATATTCCTTA	0.284													5	33					0	0	0	0	C	24516638	G	C	24516638	3	2	337	1	0	0	0	0	1	0	0	0	7980	1299	45	2	3606	2	ITSN2	2	24516638	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	23245361	24516638	218682735	22	62816											
PPM1B	5495	broad.mit.edu	37	chr2	44457630	44457630	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaatgagaattaatcataggGgaaactaccgacaacttctg	17	9	8	7	1	2	1	1	1	1	1	2	4	2	2	1	2	3	0	1	2	7	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr2:44457630G>C	ENST00000282412.4	+	6	1625	c.1213G>C	c.(1213-1215)Gga>Cga	p.G405R	PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000345249.4_Missense_Mutation_p.G118R|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000378540.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	405					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TAATCATAGGGGAAACTACCG	0.468													14	63					0	0	0	0	C	44457630	G	C	44457630	3	2	337	1	0	0	0	0	1	0	0	0	12412	1233	43	4	1264	4	PPM1B	2	44457630	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	19940992	44457630	198741743	23	62817											
BAZ2B	29994	broad.mit.edu	37	chr2	160289337	160289337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcatcatcttcctcttCatcctcatttgaatcttcag	7	19	2	13	0	9	1	5	1	4	0	11	1	11	1	2	0	0	0	2	0	1	6			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr2:160289337C>T	ENST00000392783.2	-	9	2326	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E609K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E611K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E609K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	611	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						tcttcctcttcatcctcatTT	0.353													6	61					0	0	0	0	T	160289337	C	T	160289337	3	4	337	1	0	0	0	0	1	0	0	0	1336	835	29	2	4791	2	BAZ2B	2	160289337	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	115831707	160289337	82910036	24	62818											
SCRN3	79634	broad.mit.edu	37	chr2	175292538	175292549	+	In_Frame_Del	DEL	AGAAAATTGTTA	AGAAAATTGTTA	-																															aaacaagcatcttgatgtggAgaaaattgttaatctctttc																										TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr2:175292538_175292549delAGAAAATTGTTA	ENST00000272732.6	+	8	1272_1283	c.1190_1201delAGAAAATTGTTA	c.(1189-1203)gat>g	p.EKIVN397del	SCRN3_ENST00000409673.3_In_Frame_Del_p.EKIVN390del|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	397					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			CTTGATGTGGAGAAAATTGTTAATCTCTTTCC	0.321													8	30	---	---	---	---					-	175292549	AGAAAATTGTTA	-	175292538	7	5	337	1	0	1	0	1	0	0	0	0	14027	304	11	0	1216	0	SCRN3	2	175292538	In_Frame_Del	DEL	AGAAAATTGTTA	TCGA-CV-A45X-01A-21D-A25D-08	15003201	175292538	67906835	25	62819											
NCKAP1	10787	broad.mit.edu	37	chr2	183822311	183822311	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgatagttttggcacaaTgcttgggtagcaactaaatt	12	13	10	6	0	0	1	0	1	0	0	0	2	0	1	0	2	3	5	0	2	6	7			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr2:183822311T>C	ENST00000360982.2	-	20	2671	c.1913A>G	c.(1912-1914)cAt>cGt	p.H638R	NCKAP1_ENST00000361354.3_Missense_Mutation_p.H632R	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	632					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTGGCACAATGCTTGGGTAG	0.378													11	50					0	0	0	0	C	183822311	T	C	183822311	3	2	337	1	0	0	0	0	1	0	0	0	10291	1464	51	5	1543	5	NCKAP1	2	183822311	Missense_Mutation	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08	8529773	183822311	59377062	26	62820											
DNAH7	56171	broad.mit.edu	37	chr2	196740432	196740432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcacacatgatctgaatgtCcactagtttaatcatggaac	14	11	7	9	0	2	2	1	2	1	0	3	3	3	3	1	1	2	2	1	1	4	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr2:196740432C>T	ENST00000312428.6	-	38	6353	c.6253G>A	c.(6253-6255)Gac>Aac	p.D2085N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2085	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTGAATGTCCACTAGTTTA	0.393													14	28					0	0	0	0	T	196740432	C	T	196740432	3	4	337	1	0	0	0	0	1	0	0	0	4642	855	30	2	5933	2	DNAH7	2	196740432	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	12918121	196740432	46458941	27	62821											
RARB	5915	broad.mit.edu	37	chr3	25622137	25622137	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagatcgtggagtttgctaAacgtctgcctggtttcactg	8	14	11	8	2	2	1	1	0	1	1	3	2	2	2	1	2	3	3	1	2	3	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:25622137A>T	ENST00000330688.4	+	5	1131	c.710A>T	c.(709-711)aAa>aTa	p.K237I	RARB_ENST00000458646.1_Missense_Mutation_p.K125I|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Missense_Mutation_p.K125I|RARB_ENST00000404969.1_Missense_Mutation_p.K244I	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	244	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GAGTTTGCTAAACGTCTGCCT	0.517													6	58					0	0	0	0	T	25622137	A	T	25622137	3	4	337	1	0	0	0	0	1	0	0	0	13135	14	1	5	728	5	RARB	3	25622137	Missense_Mutation	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08		25622137	172400293	28	62822											
ULK4	54986	broad.mit.edu	37	chr3	41949376	41949376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgtggtgaacagtgagtCatatcctcaccaggacttac	10	12	9	10	0	3	2	2	2	1	0	4	3	4	3	2	2	2	0	2	2	3	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:41949376C>T	ENST00000301831.4	-	12	1605	c.1143G>A	c.(1141-1143)atG>atA	p.M381I	ULK4_ENST00000420927.1_Missense_Mutation_p.M381I	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	381							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AACAGTGAGTCATATCCTCAC	0.413													6	26					0	0	0	0	T	41949376	C	T	41949376	3	4	337	1	0	0	0	0	1	0	0	0	17074	826	29	2	2788	2	ULK4	3	41949376	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	16327239	41949376	156073054	29	62823											
RAD54L2	23132	broad.mit.edu	37	chr3	51696557	51696557	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcctgacagcccagagatCatcagtgagcttcagcagta	11	9	9	12	0	4	3	3	2	1	1	5	4	4	3	2	0	3	3	2	0	1	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:51696557C>T	ENST00000409535.1	+	22	3650	c.3525C>T	c.(3523-3525)atC>atT	p.I1175I	RAD54L2_ENST00000296477.3_Silent_p.I869I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1175						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCCCAGAGATCATCAGTGAGC	0.647													9	37					0	0	0	0	T	51696557	C	T	51696557	2	4	337	1	0	0	0	0	0	0	0	1	13076	816	29	2		2	RAD54L2	3	51696557	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	9747181	51696557	146325873	30	62824											
CNTN3	5067	broad.mit.edu	37	chr3	74418524	74418524	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattaatctgaggtatgggActaagaagaaaatcgtcaag	17	9	10	5	1	2	3	1	1	1	2	3	4	2	4	0	2	0	1	0	2	8	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:74418524A>G	ENST00000263665.6	-	7	789	c.761_splice	c.e7-1	p.N254_splice		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	254	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GAGGTATGGGACTAAGAAGAA	0.378													5	24					0	0	0	0	G	74418524	A	G	74418524	5	3	337	1	0	0	0	0	0	0	1	0	3672	289	10	5	2388	5	CNTN3	3	74418524	Splice_Site	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08	22721967	74418524	123603906	31	62825											
CD200R1L	344807	broad.mit.edu	37	chr3	112545855	112545855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttacctgaattcaactttaCggacagactcttgttgccag	10	13	7	11	1	2	2	1	1	1	1	2	3	2	3	2	1	4	1	2	1	4	6	rs142953807	by1000genomes	TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:112545855C>T	ENST00000488794.1	-	6	1190	c.601G>A	c.(601-603)Gta>Ata	p.V201I	CD200R1L_ENST00000398214.1_Missense_Mutation_p.V222I|CD200R1L_ENST00000448932.1_Missense_Mutation_p.V201I			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	222	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TTCAACTTTACGGACAGACTC	0.448													9	77					0	0	0	0	T	112545855	C	T	112545855	3	4	337	1	0	0	0	0	1	0	0	0	3011	536	19	1	163	1	CD200R1L	3	112545855	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	38127331	112545855	85476575	32	62826											
MFSD1	64747	broad.mit.edu	37	chr3	158531858	158531858	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatcacacttatgattggTgagtgaatcccatgtcccac	10	11	10	10	0	1	3	1	3	0	0	3	4	3	4	2	2	0	0	2	2	2	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:158531858T>C	ENST00000415822.2	+	7	940		c.e7+2		MFSD1_ENST00000392813.4_Splice_Site|MFSD1_ENST00000264266.8_Splice_Site	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1						transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTATGATTGGTGAGTGAATCC	0.448													6	38					0	0	0	0	C	158531858	T	C	158531858	5	2	337	1	0	0	0	0	0	0	1	0	9596	1710	59	5	827	5	MFSD1	3	158531858	Splice_Site	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08	45986003	158531858	39490572	33	62827											
CCDC39	339829	broad.mit.edu	37	chr3	180377524	180377524	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttcttttctgattacattCcaaagttagtctttctaatt	9	21	3	8	0	4	1	0	1	4	0	5	1	5	1	1	0	1	1	1	0	4	9			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:180377524C>A	ENST00000273654.4	-	11	1421	c.802G>T	c.(802-804)Gaa>Taa	p.E268*	CCDC39_ENST00000442201.2_Nonsense_Mutation_p.E184*			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	184					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.E268*(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGATTACATTCCAAAGTTAGT	0.289													3	32					0.004672	0.0048267	1	0	A	180377524	C	A	180377524	4	1	337	1	0	0	0	0	0	1	0	0	2837	864	30	2	2339	2	CCDC39	3	180377524	Nonsense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	21845666	180377524	17644906	34	62828											
DNAJB11	51726	broad.mit.edu	37	chr3	186289893	186289893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacttcccagacgagatttCtataagatcttgggggtgcc	9	12	10	10	1	2	3	0	0	2	3	3	4	3	3	2	2	2	0	2	2	3	6			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:186289893C>G	ENST00000439351.1	+	3	1007	c.78C>G	c.(76-78)ttC>ttG	p.F26L	DNAJB11_ENST00000265028.3_Missense_Mutation_p.F26L			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	26	J.				protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GACGAGATTTCTATAAGATCT	0.393													4	58					0	0	0	0	G	186289893	C	G	186289893	3	3	337	1	0	0	0	0	1	0	0	0	4652	912	32	2	84	2	DNAJB11	3	186289893	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	5912369	186289893	11732537	35	62829											
RTP2	344892	broad.mit.edu	37	chr3	187419765	187419765	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcacctgcctgaggcgTgctgctccaggtactgcttc	4	11	10	16	1	1	1	1	1	1	0	4	1	2	1	4	2	5	4	4	2	1	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr3:187419765T>G	ENST00000358241.1	-	1	580	c.152A>C	c.(151-153)cAc>cCc	p.H51P		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	51					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GCCTGAGGCGTGCTGCTCCAG	0.622													15	112					0	0	0	0	G	187419765	T	G	187419765	3	3	337	1	0	0	0	0	1	0	0	0	13819	1696	59	5	533	5	RTP2	3	187419765	Missense_Mutation	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08	1129872	187419765	10602665	36	62830											
GAK	2580	broad.mit.edu	37	chr4	853491	853491	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaggggccggctgaccTccaggagagaagagggggcc	10	2	17	12	1	0	3	0	1	0	2	1	5	1	4	5	6	0	1	5	6	2	0			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr4:853491T>A	ENST00000314167.4	-	24	3296	c.3186A>T	c.(3184-3186)ggA>ggT	p.G1062G	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.G983G	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1062					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCGGCTGACCTCCAGGAGAGA	0.617													7	52					0	0	0	0	A	853491	T	A	853491	2	1	337	1	0	0	0	0	0	0	0	1	6244	1538	54	5		5	GAK	4	853491	Silent	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08		853491	190300785	37	62831											
CPEB2	132864	broad.mit.edu	37	chr4	15063828	15063828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccaatcagcagagctatAttgctgccattagtgctcgg	9	12	9	11	1	2	1	1	0	1	1	4	1	2	1	2	1	5	4	2	1	4	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr4:15063828A>G	ENST00000538197.1	+	11	2821	c.2821A>G	c.(2821-2823)Att>Gtt	p.I941V	CPEB2_ENST00000507071.1_Missense_Mutation_p.I496V|CPEB2_ENST00000442003.2_Missense_Mutation_p.I914V|CPEB2_ENST00000259997.5_Missense_Mutation_p.I504V|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000541112.1_Missense_Mutation_p.I933V|CPEB2_ENST00000345451.3_Missense_Mutation_p.I466V|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382401.3_Missense_Mutation_p.I469V|CPEB2_ENST00000382395.3_Missense_Mutation_p.I474V	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	496					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GCAGAGCTATATTGCTGCCAT	0.418													17	133					0	0	0	0	G	15063828	A	G	15063828	3	3	337	1	0	0	0	0	1	0	0	0	3831	449	16	5	2872	5	CPEB2	4	15063828	Missense_Mutation	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08	14210337	15063828	176090448	38	62832											
BMP3	651	broad.mit.edu	37	chr4	81967328	81967328	+	Silent	SNP	G	G	A																															aatgatgccgccatttctgaGccagaaagtgtggtatcaag																										TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr4:81967328G>A	ENST00000282701.2	+	2	1073	c.753G>A	c.(751-753)gaG>gaA	p.E251E		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	251					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCATTTCTGAGCCAGAAAGTG	0.483													22	77					0	0	0	0	A	81967328	G	A	81967328	2	1	337	1	0	0	0	0	0	0	0	1	1466	962	34	4		4	BMP3	4	81967328	Silent	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	66903500	81967328	109186948	39	62833	754	2									
BMP3	651	broad.mit.edu	37	chr4	81967329	81967329	+	Missense_Mutation	SNP	C	C	A																															atgatgccgccatttctgagCcagaaagtgtggtatcaagc																										TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr4:81967329C>A	ENST00000282701.2	+	2	1074	c.754C>A	c.(754-756)Cca>Aca	p.P252T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	252					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.P252S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CATTTCTGAGCCAGAAAGTGT	0.483													22	73					1.55795e-14	1.86953e-14	1	0	A	81967329	C	A	81967329	3	1	337	1	0	0	0	0	1	0	0	0	1466	739	26	4	760	4	BMP3	4	81967329	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	1	81967329	109186947	40	62834	754	2									
SEC24D	9871	broad.mit.edu	37	chr4	119754819	119754819	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctgaggctgagaataCggaggtgtagccacgtaacc	11	6	14	10	2	0	2	0	2	0	1	0	4	0	3	3	4	3	4	3	4	4	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr4:119754819C>G	ENST00000379735.5	-	2	304	c.33G>C	c.(31-33)ccG>ccC	p.P11P	SEC24D_ENST00000280551.6_Silent_p.P11P|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	11	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GCTGAGAATACGGAGGTGTAG	0.433													8	59					0	0	0	0	G	119754819	C	G	119754819	2	3	337	1	0	0	0	0	0	0	0	1	14084	523	19	3		3	SEC24D	4	119754819	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	37787490	119754819	71399457	41	62835											
FGG	2266	broad.mit.edu	37	chr4	155528120	155528120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggtcccaccttgaacatgGcatagtctgcagtactgaga	11	9	10	11	0	1	2	0	2	1	1	2	3	2	2	2	2	3	3	2	2	3	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr4:155528120G>A	ENST00000404648.3	-	8	1105	c.866C>T	c.(865-867)gCc>gTc	p.A289V	FGG_ENST00000336098.3_Missense_Mutation_p.A289V|FGG_ENST00000407946.1_Missense_Mutation_p.A297V|FGG_ENST00000405164.1_Missense_Mutation_p.A297V	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	289	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTTGAACATGGCATAGTCTGC	0.493													8	54					0	0	0	0	A	155528120	G	A	155528120	3	1	337	1	0	0	0	0	1	0	0	0	5915	1203	42	4	522	4	FGG	4	155528120	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	35773301	155528120	35626156	42	62836											
FBXO8	26269	broad.mit.edu	37	chr4	175183944	175183944	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagttcatcattcgcaagGtcctgccaaacacatgaagc	14	8	8	11	1	2	2	2	1	0	1	4	2	3	2	2	1	3	2	2	1	4	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr4:175183944G>A	ENST00000393674.2	-	2	1162	c.300C>T	c.(298-300)gaC>gaT	p.D100D	FBXO8_ENST00000503293.1_Silent_p.D59D	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	100	F-box.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		CATTCGCAAGGTCCTGCCAAA	0.393													4	30					0	0	0	0	A	175183944	G	A	175183944	2	1	337	1	0	0	0	0	0	0	0	1	5806	1252	44	4		4	FBXO8	4	175183944	Silent	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	19655824	175183944	15970332	43	62837											
ADCY2	108	broad.mit.edu	37	chr5	7804770	7804770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacatacatggcagcaacaGgtctgagcgctgtgcccagc	10	6	12	13	1	1	1	0	1	1	0	1	1	1	1	1	2	6	4	1	2	2	1			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr5:7804770G>T	ENST00000338316.4	+	22	2937	c.2848G>T	c.(2848-2850)Ggt>Tgt	p.G950C	ADCY2_ENST00000537121.1_Missense_Mutation_p.G770C	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	950					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGCAGCAACAGGTCTGAGCGC	0.527													4	32					0.000602214	0.000634767	1	0	T	7804770	G	T	7804770	3	4	337	1	0	0	0	0	1	0	0	0	294	1000	35	4	2934	4	ADCY2	5	7804770	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08		7804770	173110490	44	62838											
TARS	6897	broad.mit.edu	37	chr5	33461017	33461017	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcttcagccttatgtttGatcatcggccaaggtcctgg	6	15	9	11	1	3	1	2	1	1	0	6	1	4	1	3	3	1	1	3	3	2	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr5:33461017G>C	ENST00000265112.3	+	12	1572	c.1261G>C	c.(1261-1263)Gat>Cat	p.D421H	TARS_ENST00000455217.2_Missense_Mutation_p.D454H|TARS_ENST00000541634.1_Missense_Mutation_p.D317H|TARS_ENST00000502553.1_Missense_Mutation_p.D421H|TARS_ENST00000414361.2_Missense_Mutation_p.D300H	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	421					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CCTTATGTTTGATCATCGGCC	0.453													5	49					0	0	0	0	C	33461017	G	C	33461017	3	2	337	1	0	0	0	0	1	0	0	0	15650	1290	45	2	1307	2	TARS	5	33461017	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	25656247	33461017	147454243	45	62839											
EPB41L4A	64097	broad.mit.edu	37	chr5	111576462	111576462	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacttccagaggtgcttgcAagcagttttactccgagctt	8	12	10	11	1	0	1	0	0	0	1	2	2	2	1	2	1	5	6	2	1	2	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr5:111576462A>T	ENST00000261486.5	-	10	1117	c.841T>A	c.(841-843)Tgc>Agc	p.C281S	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	281	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGGTGCTTGCAAGCAGTTTTA	0.343													6	28					0	0	0	0	T	111576462	A	T	111576462	3	4	337	1	0	0	0	0	1	0	0	0	5193	130	5	5	1275	5	EPB41L4A	5	111576462	Missense_Mutation	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08	78115445	111576462	69338798	46	62840											
PITX1	5307	broad.mit.edu	37	chr5	134364688	134364688	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggttgttgatgttgttGaggcccgagttgggcatgcc	5	13	17	6	1	0	3	0	3	0	0	0	4	0	3	2	3	1	6	2	3	0	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr5:134364688G>T	ENST00000265340.7	-	3	1142	c.726C>A	c.(724-726)ctC>ctA	p.L242L	PITX1_ENST00000506438.1_Silent_p.L242L	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	242	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TGATGTTGTTGAGGCCCGAGT	0.662													7	39					8.12818e-05	8.80553e-05	1	0	T	134364688	G	T	134364688	2	4	337	1	0	0	0	0	0	0	0	1	12026	1277	45	2		2	PITX1	5	134364688	Silent	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	22788226	134364688	46550572	47	62841											
PCYOX1L	78991	broad.mit.edu	37	chr5	148743614	148743614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggctgaggcaccggcGcgaggtggtgggcaggagcg	6	4	22	9	4	0	1	0	1	0	0	0	3	0	2	1	7	2	4	1	7	0	0	rs35456382	byFrequency	TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr5:148743614G>A	ENST00000514349.1	+	2	620	c.41G>A	c.(40-42)cGc>cAc	p.R14H	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.R104H			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	104					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCACCGGCGCGAGGTGGTG	0.602													10	43					0	0	0	0	A	148743614	G	A	148743614	3	1	337	1	0	0	0	0	1	0	0	0	11680	1087	38	1	321	1	PCYOX1L	5	148743614	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	14378926	148743614	32171646	48	62842											
ASCC3	10973	broad.mit.edu	37	chr6	101215068	101215068	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttgaaaatgttggcgaaTttcatgcaagactgtcagca	12	13	10	6	1	2	2	2	1	0	1	2	3	2	2	0	1	2	4	0	1	4	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr6:101215068T>A	ENST00000369162.2	-	9	1893	c.1549A>T	c.(1549-1551)Att>Ttt	p.I517F	ASCC3_ENST00000522650.1_Missense_Mutation_p.I517F	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	517	Helicase ATP-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGTTGGCGAATTTCATGCAAG	0.348													26	51					0	0	0	0	A	101215068	T	A	101215068	3	1	337	1	0	0	0	0	1	0	0	0	1037	1493	52	5	5195	5	ASCC3	6	101215068	Missense_Mutation	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08		101215068	69899999	49	62843											
ENPP1	5167	broad.mit.edu	37	chr6	132194150	132194150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctaagagtgatagaattgagCccttgacattctatttggac	12	13	9	7	0	1	5	0	3	1	2	1	6	1	6	1	1	1	0	1	1	4	7			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr6:132194150C>A	ENST00000360971.2	+	15	1545	c.1525C>A	c.(1525-1527)Ccc>Acc	p.P509T		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	509	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TAGAATTGAGCCCTTGACATT	0.433													18	162					1.99824e-07	2.24262e-07	1	0	A	132194150	C	A	132194150	3	1	337	1	0	0	0	0	1	0	0	0	5167	739	26	4	1583	4	ENPP1	6	132194150	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	30979082	132194150	38920917	50	62844											
TAX1BP1	8887	broad.mit.edu	37	chr7	27856133	27856133	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccttatgcatctcaggaaAcaagaggttattacagtatt	14	13	7	7	0	1	1	1	0	1	1	3	2	2	2	1	2	3	3	1	2	6	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr7:27856133A>G	ENST00000396319.2	+	14	2018	c.1930A>G	c.(1930-1932)Aca>Gca	p.T644A	TAX1BP1_ENST00000543117.1_Intron|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.T668A	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	644					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ATCTCAGGAAACAAGAGGTTA	0.343													25	127					0	0	0	0	G	27856133	A	G	27856133	3	3	337	1	0	0	0	0	1	0	0	0	15685	43	2	5	1980	5	TAX1BP1	7	27856133	Missense_Mutation	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08		27856133	131282530	51	62845											
NOD1	10392	broad.mit.edu	37	chr7	30491286	30491286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttggtgaactggaagtgatCcttgttcttgaagaggtctt	8	15	13	5	0	2	4	0	3	2	1	3	5	3	5	1	3	1	2	1	3	3	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr7:30491286C>G	ENST00000222823.4	-	6	2272	c.1747G>C	c.(1747-1749)Gat>Cat	p.D583H		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	583					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGGAAGTGATCCTTGTTCTTG	0.617													8	93					0	0	0	0	G	30491286	C	G	30491286	3	3	337	1	0	0	0	0	1	0	0	0	10586	855	30	2	1150	2	NOD1	7	30491286	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	2635153	30491286	128647377	52	62846											
RSBN1L	222194	broad.mit.edu	37	chr7	77379048	77379048	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacgagttcagaataacctCaaaaggttggacactttgga	14	9	9	9	1	2	1	2	0	0	1	2	4	2	3	2	3	1	2	2	3	4	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr7:77379048C>G	ENST00000334955.7	+	3	1038	c.1011C>G	c.(1009-1011)ctC>ctG	p.L337L	RSBN1L_ENST00000445288.1_Silent_p.L67L	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	337						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAATAACCTCAAAAGGTTGG	0.408													6	51					0	0	0	0	G	77379048	C	G	77379048	2	3	337	1	0	0	0	0	0	0	0	1	13782	813	29	2		2	RSBN1L	7	77379048	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	46887762	77379048	81759615	53	62847											
ADRA1A	148	broad.mit.edu	37	chr8	26627799	26627799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcttttacttctcaccCgggctgtggtacaggaggat	10	11	11	9	1	1	0	1	0	1	0	2	2	1	2	1	4	3	3	1	4	4	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr8:26627799C>T	ENST00000380573.3	-	3	2291	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q	ADRA1A_ENST00000276393.4_Missense_Mutation_p.R423Q|ADRA1A_ENST00000519229.1_Splice_Site_p.R423_splice|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Splice_Site_p.R423_splice|ADRA1A_ENST00000354550.4_Splice_Site_p.R423_splice|ADRA1A_ENST00000380586.1_Splice_Site_p.R423_splice|ADRA1A_ENST00000380587.1_Intron			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	423					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	ACTTCTCACCCGGGCTGTGGT	0.507													39	54					0	0	0	0	T	26627799	C	T	26627799	3	4	337	1	0	0	0	0	1	0	0	0	334	666	23	1	427	1	ADRA1A	8	26627799	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08		26627799	119736223	54	62848											
DUSP4	1846	broad.mit.edu	37	chr8	29207652	29207652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaacggtctgcagtcCagcagcaggcacttgccgcc	8	5	13	15	2	1	0	0	0	1	0	2	1	2	1	4	3	5	4	4	3	1	1			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr8:29207652C>T	ENST00000240100.2	-	1	533	c.144G>A	c.(142-144)ctG>ctA	p.L48L		NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	48	Rhodanese.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GTCTGCAGTCCAGCAGCAGGC	0.687													8	13					0	0	0	0	T	29207652	C	T	29207652	2	4	337	1	0	0	0	0	0	0	0	1	4863	581	21	4		4	DUSP4	8	29207652	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	2579853	29207652	117156370	55	62849											
WHSC1L1	54904	broad.mit.edu	37	chr8	38162186	38162186	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattactacagatgagaaTgtaggaggatactaacatgc	16	10	10	5	0	0	3	0	2	0	2	0	6	0	5	0	2	5	1	0	2	6	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr8:38162186T>C	ENST00000317025.8	-	14	3047	c.2530A>G	c.(2530-2532)Att>Gtt	p.I844V	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.I844V|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.I844V	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	844					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CAGATGAGAATGTAGGAGGAT	0.433			T	NUP98	AML								15	92					0	0	0	0	C	38162186	T	C	38162186	3	2	337	1	0	0	0	0	1	0	0	0	17459	1464	51	5	1827	5	WHSC1L1	8	38162186	Missense_Mutation	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08	8954534	38162186	108201836	56	62850											
WHSC1L1	54904	broad.mit.edu	37	chr8	38172932	38172932	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagcaccagttacctgcctAcctgacatacagtgtccttc	10	11	6	14	0	0	1	0	1	0	0	2	1	1	1	5	0	5	2	5	0	4	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr8:38172932A>T	ENST00000317025.8	-	11	2633		c.e11+1		WHSC1L1_ENST00000527502.1_Splice_Site|WHSC1L1_ENST00000433384.2_Splice_Site	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1						cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTACCTGCCTACCTGACATAC	0.403			T	NUP98	AML								19	141					0	0	0	0	T	38172932	A	T	38172932	5	4	337	1	0	0	0	0	0	0	1	0	17459	405	14	5	2252	5	WHSC1L1	8	38172932	Splice_Site	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08	10746	38172932	108191090	57	62851											
TG	7038	broad.mit.edu	37	chr8	134128920	134128920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagggcccgaggaaacGtcttcatgtaccatgctcct	11	8	10	12	2	2	1	1	0	1	1	3	3	3	2	3	2	3	2	3	2	3	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr8:134128920G>A	ENST00000220616.4	+	45	7862	c.7822G>A	c.(7822-7824)Gtc>Atc	p.V2608I	TG_ENST00000519543.1_Missense_Mutation_p.V741I|TG_ENST00000377869.1_Missense_Mutation_p.V2551I|TG_ENST00000542445.1_Missense_Mutation_p.V978I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2608					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCGAGGAAACGTCTTCATGTA	0.512													11	80					0	0	0	0	A	134128920	G	A	134128920	3	1	337	1	0	0	0	0	1	0	0	0	15907	1145	40	1	8000	1	TG	8	134128920	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	95955988	134128920	12235102	58	62852											
PRUNE2	158471	broad.mit.edu	37	chr9	79461549	79461549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcatcgctctgctcaacCggattaatgactttgacaac	10	12	8	11	2	2	2	1	2	1	0	3	3	2	3	1	2	3	3	1	2	3	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr9:79461549C>T	ENST00000376718.3	-	4	513	c.390G>A	c.(388-390)ccG>ccA	p.P130P	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.P130P	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	130					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGCTCAACCGGATTAATGA	0.458													6	27					0	0	0	0	T	79461549	C	T	79461549	2	4	337	1	0	0	0	0	0	0	0	1	12720	639	23	1		1	PRUNE2	9	79461549	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08		79461549	61751882	59	62853											
TCTN3	26123	broad.mit.edu	37	chr10	97447374	97447374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagatggtggtgattgaGtttggaatgttgaagtgaat	14	13	14	0	0	0	5	0	4	0	1	0	6	0	6	0	3	0	2	0	3	5	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr10:97447374G>C	ENST00000265993.8	-	4	845	c.602C>G	c.(601-603)aCt>aGt	p.T201S	TCTN3_ENST00000371209.5_Missense_Mutation_p.T201S|TCTN3_ENST00000371217.4_Missense_Mutation_p.T219S|TCTN3_ENST00000430368.1_Intron	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3	201					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		TGGTGATTGAGTTTGGAATGT	0.443													13	28					0	0	0	0	C	97447374	G	C	97447374	3	2	337	1	0	0	0	0	1	0	0	0	15818	1029	36	4	1265	4	TCTN3	10	97447374	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08		97447374	38087373	60	62854											
SORCS3	22986	broad.mit.edu	37	chr10	107005323	107005323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcactttggacagcagCatttccttcacattccttgc	8	14	5	14	0	3	0	3	0	0	0	5	1	5	1	2	1	3	2	2	1	0	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr10:107005323C>A	ENST00000369701.3	+	21	3119	c.2892C>A	c.(2890-2892)agC>agA	p.S964R	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	964						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGGACAGCAGCATTTCCTTCA	0.453													16	115					3.45872e-05	3.77315e-05	1	0	A	107005323	C	A	107005323	3	1	337	1	0	0	0	0	1	0	0	0	15020	709	25	4	2974	4	SORCS3	10	107005323	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	9557949	107005323	28529424	61	62855											
SORCS1	114815	broad.mit.edu	37	chr10	108716281	108716281	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctacatacctccaaagcgAgctctctgtgatgctcccca	10	10	6	15	1	2	1	0	1	2	0	5	2	4	1	4	0	5	2	4	0	3	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr10:108716281A>T	ENST00000263054.6	-	2	623	c.616T>A	c.(616-618)Tcg>Acg	p.S206T	SORCS1_ENST00000344440.6_Missense_Mutation_p.S206T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	206						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTCCAAAGCGAGCTCTCTGTG	0.423													8	27					0	0	0	0	T	108716281	A	T	108716281	3	4	337	1	0	0	0	0	1	0	0	0	15018	304	11	5	3224	5	SORCS1	10	108716281	Missense_Mutation	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08	1710958	108716281	26818466	62	62856											
TDRD1	56165	broad.mit.edu	37	chr10	115947746	115947746	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacttcctaaccaccctaaTttcaggctgaaaagctcaga	14	9	5	13	0	2	2	2	1	0	1	3	2	3	2	3	1	2	2	3	1	4	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr10:115947746T>C	ENST00000251864.2	+	2	309	c.156T>C	c.(154-156)aaT>aaC	p.N52N	TDRD1_ENST00000369281.2_Silent_p.N52N|TDRD1_ENST00000369280.1_Silent_p.N52N|TDRD1_ENST00000369282.1_Silent_p.N52N|TDRD1_ENST00000422662.1_5'UTR	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	52					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACCACCCTAATTTCAGGCTGA	0.358													10	82					0	0	0	0	C	115947746	T	C	115947746	2	2	337	1	0	0	0	0	0	0	0	1	15824	1490	52	5		5	TDRD1	10	115947746	Silent	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08	7231465	115947746	19587001	63	62857											
C10orf90	118611	broad.mit.edu	37	chr10	128193218	128193218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgatgccgacctggatggGcgccattggccagagccggg	6	7	16	12	3	1	2	0	1	1	1	1	4	1	3	5	4	2	0	5	4	0	1			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr10:128193218G>A	ENST00000284694.7	-	3	671	c.551C>T	c.(550-552)gCc>gTc	p.A184V	C10orf90_ENST00000454341.1_Missense_Mutation_p.A184V|C10orf90_ENST00000356858.3_Missense_Mutation_p.A137V|C10orf90_ENST00000544758.1_Missense_Mutation_p.A281V|C10orf90_ENST00000392694.1_Missense_Mutation_p.A137V|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	184										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ACCTGGATGGGCGCCATTGGC	0.647											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	64					0	0	0	0	A	128193218	G	A	128193218	3	1	337	1	0	0	0	0	1	0	0	0	1633	1203	42	4	1576	4	C10orf90	10	128193218	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	12245472	128193218	7341529	64	62858											
KRTAP5-6	440023	broad.mit.edu	37	chr11	1718850	1718850	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgtgtccccatttgctgCcagtgcaaaatctgaggctc	7	12	10	12	0	1	1	0	1	1	0	3	1	2	1	3	1	4	4	3	1	2	1			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:1718850C>A	ENST00000382160.1	+	1	426	c.375C>A	c.(373-375)tgC>tgA	p.C125*		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	125						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCATTTGCTGCCAGTGCAAAA	0.572													18	104					9.16793e-09	1.05162e-08	1	0	A	1718850	C	A	1718850	4	1	337	1	0	0	0	0	0	1	0	0	8618	747	26	4	377	4	KRTAP5-6	11	1718850	Nonsense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08		1718850	133287666	65	62859											
RASGRP2	10235	broad.mit.edu	37	chr11	64507257	64507257	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacagtgcagccatgagTcacgaaactgtgatagtcct	11	9	10	11	1	1	2	1	2	0	0	3	3	3	2	3	0	3	1	3	0	2	1			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:64507257T>A	ENST00000377494.1	-	6	1469	c.547A>T	c.(547-549)Act>Tct	p.T183S	RASGRP2_ENST00000354024.3_Missense_Mutation_p.T183S|RASGRP2_ENST00000377497.3_Missense_Mutation_p.T183S|RASGRP2_ENST00000394432.3_Missense_Mutation_p.T183S			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	183	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGCCATGAGTCACGAAACTG	0.582													21	47					0	0	0	0	A	64507257	T	A	64507257	3	1	337	1	0	0	0	0	1	0	0	0	13157	1667	58	5	1322	5	RASGRP2	11	64507257	Missense_Mutation	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08	62788407	64507257	70499259	66	62860											
MAP4K2	5871	broad.mit.edu	37	chr11	64557716	64557716	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagtgtggccgtgggcTcgccctgcatgttgacaatc	5	10	14	12	2	0	1	0	1	0	0	2	1	0	1	3	2	2	3	3	2	1	1			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:64557716T>A	ENST00000294066.2	-	29	2283	c.2192A>T	c.(2191-2193)gAg>gTg	p.E731V	MAP4K2_ENST00000377350.3_Missense_Mutation_p.E723V	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	731	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGCCGTGGGCTCGCCCTGCAT	0.622													6	42					0	0	0	0	A	64557716	T	A	64557716	3	1	337	1	0	0	0	0	1	0	0	0	9329	1551	54	5	286	5	MAP4K2	11	64557716	Missense_Mutation	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08	50459	64557716	70448800	67	62861											
PPP1CA	5499	broad.mit.edu	37	chr11	67167046	67167046	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctccgtggcagcagAagatcttttcgtccactatg	8	11	8	14	2	2	2	1	0	1	2	5	2	4	2	4	1	1	2	4	1	2	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:67167046A>C	ENST00000376745.4	-	4	657	c.509T>G	c.(508-510)tTc>tGc	p.F170C	PPP1CA_ENST00000312989.7_Missense_Mutation_p.F181C|PPP1CA_ENST00000358239.4_Missense_Mutation_p.F126C|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	170					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GTGGCAGCAGAAGATCTTTTC	0.592													7	37					0	0	0	0	C	67167046	A	C	67167046	3	2	337	1	0	0	0	0	1	0	0	0	12425	246	9	5	499	5	PPP1CA	11	67167046	Missense_Mutation	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08	2609330	67167046	67839470	68	62862											
CPT1A	1374	broad.mit.edu	37	chr11	68582883	68582883	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttcatggctcagccgcagGtcaatcccgtccggagtgac	7	8	12	14	3	3	1	3	1	0	0	5	2	5	2	3	3	1	3	3	3	1	1			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:68582883G>A	ENST00000265641.5	-	2	214	c.60C>T	c.(58-60)gaC>gaT	p.D20D	CPT1A_ENST00000376618.2_Silent_p.D20D|CPT1A_ENST00000539743.1_Silent_p.D20D|CPT1A_ENST00000540367.1_Silent_p.D20D	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	20					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TCAGCCGCAGGTCAATCCCGT	0.463													5	72					0	0	0	0	A	68582883	G	A	68582883	2	1	337	1	0	0	0	0	0	0	0	1	3861	1252	44	4		4	CPT1A	11	68582883	Silent	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	1415837	68582883	66423633	69	62863											
C11orf70	85016	broad.mit.edu	37	chr11	101951964	101951964	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgttcgaaagaatcctcaAaccaagaaaatacagattac	19	8	6	8	1	1	3	1	0	0	3	3	4	2	3	2	0	3	1	2	0	8	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:101951964A>G	ENST00000434758.2	+	6	655	c.627A>G	c.(625-627)caA>caG	p.Q209Q	C11orf70_ENST00000526781.1_Silent_p.Q209Q	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	209										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGAATCCTCAAACCAAGAAAA	0.284													8	26					0	0	0	0	G	101951964	A	G	101951964	2	3	337	1	0	0	0	0	0	0	0	1	1670	11	1	5		5	C11orf70	11	101951964	Silent	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08	33369081	101951964	33054552	70	62864											
CEP164	22897	broad.mit.edu	37	chr11	117222548	117222548	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactatttcaacttcgccaaCgggcagtctatgtgggacca	10	11	9	11	2	2	0	1	0	1	0	3	1	2	1	2	2	3	1	2	2	5	5	rs149281923		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:117222548C>T	ENST00000278935.3	+	5	384	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	79	Interaction with ATRIP.|WW.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTTCGCCAACGGGCAGTCTA	0.478													10	53					0	0	0	0	T	117222548	C	T	117222548	2	4	337	1	0	0	0	0	0	0	0	1	3278	535	19	1		1	CEP164	11	117222548	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	15270584	117222548	17783968	71	62865											
OR8D2	283160	broad.mit.edu	37	chr11	124189434	124189434	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaggatactagagaaaatGaaagcataagagataaggac	21	5	10	5	0	0	3	0	1	0	2	0	7	0	5	1	2	2	1	1	2	8	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr11:124189434G>A	ENST00000357438.2	-	1	750	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TAGAGAAAATGAAAGCATAAG	0.448													5	89					0	0	0	0	A	124189434	G	A	124189434	2	1	337	1	0	0	0	0	0	0	0	1	11303	1281	45	2		2	OR8D2	11	124189434	Silent	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	6966886	124189434	10817082	72	62866											
C12orf4	57102	broad.mit.edu	37	chr12	4609473	4609473	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaagcaacatggatttctGagagattagaatgccgtgta	14	10	12	5	1	1	3	0	1	1	2	1	6	1	5	1	2	3	2	1	2	5	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:4609473G>C	ENST00000261250.3	-	11	1358	c.1271C>G	c.(1270-1272)tCa>tGa	p.S424*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.S424*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	424										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATGGATTTCTGAGAGATTAGA	0.393													17	44					0	0	0	0	C	4609473	G	C	4609473	4	2	337	1	0	0	0	0	0	1	0	0	1697	1294	45	2	403	2	C12orf4	12	4609473	Nonsense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08		4609473	129242422	73	62867											
GRIN2B	2904	broad.mit.edu	37	chr12	13906828	13906828	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattgatgggccaaactGgaagaacatggaggattcat	14	10	11	6	0	2	2	2	1	0	1	2	5	2	5	1	4	2	0	1	4	4	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:13906828G>A	ENST00000279593.3	-	3	642	c.433C>T	c.(433-435)Cag>Tag	p.Q145*		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	145					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGCCAAACTGGAAGAACATG	0.393													6	31					0	0	0	0	A	13906828	G	A	13906828	4	1	337	1	0	0	0	0	0	1	0	0	6830	1357	47	4	4065	4	GRIN2B	12	13906828	Nonsense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	9297355	13906828	119945067	74	62868											
SLCO1B1	10599	broad.mit.edu	37	chr12	21355450	21355450	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaccatacctatttttgcAagtggaatgtttttaggagg	12	15	9	5	0	0	0	0	0	0	0	0	2	0	2	2	3	3	2	2	3	6	8			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:21355450A>T	ENST00000256958.2	+	10	1257	c.1161A>T	c.(1159-1161)gcA>gcT	p.A387A		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	387					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTATTTTTGCAAGTGGAATGT	0.299													6	20					0	0	0	0	T	21355450	A	T	21355450	2	4	337	1	0	0	0	0	0	0	0	1	14811	117	5	5		5	SLCO1B1	12	21355450	Silent	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08	7448622	21355450	112496445	75	62869											
PDZRN4	29951	broad.mit.edu	37	chr12	41966826	41966826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagagctgcagaagtactCcgctcactgtagaccgttcc	9	9	10	13	2	1	3	1	1	0	3	3	4	3	3	3	0	3	6	3	0	3	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:41966826C>A	ENST00000298919.7	+	10	1853	c.1465C>A	c.(1465-1467)Ccg>Acg	p.P489T	PDZRN4_ENST00000539469.2_Missense_Mutation_p.P491T|PDZRN4_ENST00000402685.2_Missense_Mutation_p.P749T			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	749							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAGAAGTACTCCGCTCACTGT	0.493													11	78					1.08611e-07	1.22777e-07	1	0	A	41966826	C	A	41966826	3	1	337	1	0	0	0	0	1	0	0	0	11781	855	30	2	2356	2	PDZRN4	12	41966826	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	20611376	41966826	91885069	76	62870											
TUBA1A	7846	broad.mit.edu	37	chr12	49580524	49580524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacttggcatctggccatcGggctggatgccgtgttccag	5	11	13	12	2	2	0	1	0	1	0	4	1	3	1	3	4	1	3	3	4	0	2	rs139102191	byFrequency	TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:49580524G>A	ENST00000301071.7	-	2	440	c.96C>T	c.(94-96)ccC>ccT	p.P32P	TUBA1A_ENST00000550767.1_5'UTR|TUBA1A_ENST00000546918.1_Silent_p.P32P|TUBA1A_ENST00000295766.5_Silent_p.P32P	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	32					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TCTGGCCATCGGGCTGGATGC	0.602													12	60					0	0	0	0	A	49580524	G	A	49580524	2	1	337	1	0	0	0	0	0	0	0	1	16839	1103	39	1		1	TUBA1A	12	49580524	Silent	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	7613698	49580524	84271371	77	62871											
RARG	5916	broad.mit.edu	37	chr12	53607444	53607444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccgtcggagaaggtcatgGtgtcctgctctggggtgtac	5	10	16	10	2	2	1	1	0	1	1	4	2	3	1	2	5	2	2	2	5	2	1			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:53607444G>A	ENST00000425354.2	-	8	1341	c.854C>T	c.(853-855)aCc>aTc	p.T285I	RARG_ENST00000394426.1_Missense_Mutation_p.T285I|RARG_ENST00000338561.5_Missense_Mutation_p.T274I|RARG_ENST00000543726.1_Missense_Mutation_p.T263I|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.T213I	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	285	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GAAGGTCATGGTGTCCTGCTC	0.602											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	54					0	0	0	0	A	53607444	G	A	53607444	3	1	337	1	0	0	0	0	1	0	0	0	13136	1261	44	4	522	4	RARG	12	53607444	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	4026920	53607444	80244451	78	62872											
GRIP1	23426	broad.mit.edu	37	chr12	66826405	66826405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccactacttgggatgacaGactctaatatcaaaacaaaa	17	10	5	9	0	2	2	1	1	1	1	3	3	3	3	1	1	2	0	1	1	7	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:66826405G>T	ENST00000359742.4	-	14	1931	c.1691C>A	c.(1690-1692)tCt>tAt	p.S564Y	GRIP1_ENST00000398016.3_Missense_Mutation_p.S512Y|GRIP1_ENST00000286445.7_Missense_Mutation_p.S564Y			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	564					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGGGATGACAGACTCTAATAT	0.328													5	17					0.00116845	0.00122334	1	0	T	66826405	G	T	66826405	3	4	337	1	0	0	0	0	1	0	0	0	6837	942	33	2	1743	2	GRIP1	12	66826405	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	13218961	66826405	67025490	79	62873											
PTPRB	5787	broad.mit.edu	37	chr12	70983904	70983924	+	In_Frame_Del	DEL	GAGTAGGATCCGATACTGCTC	GAGTAGGATCCGATACTGCTC	-																															agcaccacagaatcattgaaGagtaggatccgatactgctc																										TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:70983904_70983924delGAGTAGGATCCGATACTGCTC	ENST00000334414.6	-	8	1914_1934	c.1870_1890delGAGCAGTATCGGATCCTACTC	c.(1870-1890)del	p.EQYRILL624del	PTPRB_ENST00000550358.1_In_Frame_Del_p.EQYRILL624del|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000538708.1_In_Frame_Del_p.EQYRILL406del|PTPRB_ENST00000261266.5_In_Frame_Del_p.EQYRILL406del|PTPRB_ENST00000551525.1_In_Frame_Del_p.EQYRILL623del	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	406	Fibronectin type-III 7.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.I410I(2)|p.R409R(2)|p.I628I(1)|p.R627R(1)|p.L412P(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AATCATTGAAGAGTAGGATCCGATACTGCTCCCAGTCTCCA	0.507											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	73	---	---	---	---					-	70983924	GAGTAGGATCCGATACTGCTC	-	70983904	7	5	337	1	0	1	0	1	0	0	0	0	12878	929	33	0	4865	0	PTPRB	12	70983904	In_Frame_Del	DEL	GAGTAGGATCCGATACTGCTC	TCGA-CV-A45X-01A-21D-A25D-08	4157499	70983904	62867991	80	62874											
TRHDE	29953	broad.mit.edu	37	chr12	72969048	72969048	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcagagcaccacagaatAacttatttggacaaaggaag	16	10	8	7	0	1	2	1	0	0	2	1	4	1	4	1	2	2	1	1	2	5	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:72969048A>C	ENST00000261180.4	+	11	2106	c.2010A>C	c.(2008-2010)atA>atC	p.I670I	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	670					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCACAGAATAACTTATTTGG	0.338													5	36					0	0	0	0	C	72969048	A	C	72969048	2	2	337	1	0	0	0	0	0	0	0	1	16574	352	13	5		5	TRHDE	12	72969048	Silent	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08	1985144	72969048	60882847	81	62875											
TPCN1	53373	broad.mit.edu	37	chr12	113715134	113715134	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggagcgctatcttaccttCaaggccctgaatcagaacaa	13	8	9	11	1	3	2	2	1	1	1	3	3	3	3	2	2	3	1	2	2	6	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:113715134C>T	ENST00000550785.1	+	13	1534	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	TPCN1_ENST00000335509.6_Silent_p.F383F|TPCN1_ENST00000541517.1_Silent_p.F455F|TPCN1_ENST00000392569.4_Silent_p.F315F	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	383						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.F383F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						ATCTTACCTTCAAGGCCCTGA	0.582													5	28					0	0	0	0	T	113715134	C	T	113715134	2	4	337	1	0	0	0	0	0	0	0	1	16490	825	29	2		2	TPCN1	12	113715134	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	40746086	113715134	20136761	82	62876											
P2RX7	5027	broad.mit.edu	37	chr12	121615009	121615009	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctcaaccctctcctacttCggtctggtaagagattctct	7	13	8	13	1	4	1	1	0	3	1	7	2	4	1	2	3	2	2	2	3	3	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr12:121615009C>T	ENST00000328963.5	+	9	976	c.522C>T	c.(520-522)ttC>ttT	p.F174F	P2RX7_ENST00000541446.1_Silent_p.F55F|P2RX7_ENST00000535250.1_Silent_p.F254F|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000546057.1_Silent_p.F344F|P2RX7_ENST00000377162.2_Silent_p.F255F			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	344						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTCCTACTTCGGTCTGGTAA	0.463													10	33					0	0	0	0	T	121615009	C	T	121615009	2	4	337	1	0	0	0	0	0	0	0	1	11416	883	31	1		1	P2RX7	12	121615009	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	7899875	121615009	12236886	83	62877											
PSPC1	55269	broad.mit.edu	37	chr13	20277461	20277461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctactccccataggtgaacCcatctgagatggtggtcctt	8	12	9	12	0	2	2	0	2	2	1	4	3	4	2	4	3	2	0	4	3	3	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr13:20277461C>A	ENST00000338910.4	-	9	1585	c.1426G>T	c.(1426-1428)Ggt>Tgt	p.G476C		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	476	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ATAGGTGAACCCATCTGAGAT	0.463													7	31					0.000442599	0.000469697	1	0	A	20277461	C	A	20277461	3	1	337	1	0	0	0	0	1	0	0	0	12795	623	22	4	149	4	PSPC1	13	20277461	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08		20277461	94892417	84	62878											
PIBF1	10464	broad.mit.edu	37	chr13	73467972	73467973	+	Frame_Shift_Ins	INS	-	-	T																															aaagtaacagaatttctccaINStcaaagtaaattaaaatctt																										TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr13:73467972_73467973insT	ENST00000326291.6	+	11	1711_1712	c.1373_1374insT	c.(1372-1374)ccafs	p.P458fs		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	458						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GAATTTCTCCATCAAAGTAAAT	0.351													22	34	---	---	---	---					T	73467973	-	T	73467972	7	5	337	1	0	1	1	0	0	0	0	0	11951	217	8	0	1411	0	PIBF1	13	73467972	Frame_Shift_Ins	INS	-	TCGA-CV-A45X-01A-21D-A25D-08	53190511	73467972	41701906	85	62879											
UGGT2	55757	broad.mit.edu	37	chr13	96555301	96555301	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataatccccaaccgactaTgaacacttgttttctgcaaa	15	11	4	11	1	1	1	0	1	1	0	2	2	2	1	3	0	3	2	3	0	6	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr13:96555301T>A	ENST00000376747.3	-	21	2379	c.2309A>T	c.(2308-2310)cAt>cTt	p.H770L		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	770					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CAACCGACTATGAACACTTGT	0.313													10	41					0	0	0	0	A	96555301	T	A	96555301	3	1	337	1	0	0	0	0	1	0	0	0	17038	1464	51	5	2317	5	UGGT2	13	96555301	Missense_Mutation	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08	23087329	96555301	18614577	86	62880											
OR11H12	440153	broad.mit.edu	37	chr14	19377698	19377698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaggtttcacttgtgaGtggacaattcagatcttcct	9	14	8	10	0	3	2	2	1	1	1	5	3	5	3	2	2	0	1	2	2	2	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr14:19377698G>T	ENST00000550708.1	+	1	177	c.105G>T	c.(103-105)gaG>gaT	p.E35D		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACTTGTGAGTGGACAATTC	0.433													12	74					9.31168e-06	1.03023e-05	1	0	T	19377698	G	T	19377698	3	4	337	1	0	0	0	0	1	0	0	0	10998	1020	36	4	107	4	OR11H12	14	19377698	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08		19377698	87971842	87	62881											
ZBTB25	7597	broad.mit.edu	37	chr14	64954651	64954651	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagtcggcgtgaagaaatcGaatcccttcctccaaacgac	12	8	9	12	4	0	2	0	1	0	1	5	4	3	2	3	1	1	1	3	1	5	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr14:64954651G>A	ENST00000394715.1	-	6	999	c.298C>T	c.(298-300)Cga>Tga	p.R100*	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000261683.2_Nonsense_Mutation_p.R100*|ZBTB25_ENST00000555220.1_Intron			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	100	BTB.					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TGAAGAAATCGAATCCCTTCC	0.423													10	77					0	0	0	0	A	64954651	G	A	64954651	4	1	337	1	0	0	0	0	0	1	0	0	17627	1066	37	1	1013	1	ZBTB25	14	64954651	Nonsense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	45576953	64954651	42394889	88	62882											
ZFP36L1	677	broad.mit.edu	37	chr14	69262996	69262996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggagtgaaggaggcgctgcGggtgtacgtattcatcggcc	7	8	17	9	5	1	1	1	1	0	0	2	3	1	3	1	5	2	3	1	5	3	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr14:69262996G>A	ENST00000408913.2	-	1	194	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C				Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	38					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAGGCGCTGCGGGTGTACGTA	0.592													22	59					0	0	0	0	A	69262996	G	A	69262996	3	1	337	1	0	0	0	0	1	0	0	0	17741	1116	39	1		1	ZFP36L1	14	69262996	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	4308345	69262996	38086544	89	62883											
ZFYVE21	79038	broad.mit.edu	37	chr14	104199002	104199002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgcagtatacagtgcCggggacggagggtgtgaccc	7	8	16	10	2	0	1	0	1	0	0	1	3	1	3	3	4	3	3	3	4	2	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr14:104199002C>T	ENST00000216602.6	+	7	738	c.626C>T	c.(625-627)cCg>cTg	p.P209L	ZFYVE21_ENST00000311141.2_Missense_Mutation_p.P191L	NM_001198953.1	NP_001185882.1	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	191						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		TATACAGTGCCGGGGACGGAG	0.642													7	63					0	0	0	0	T	104199002	C	T	104199002	3	4	337	1	0	0	0	0	1	0	0	0	17762	652	23	1	594	1	ZFYVE21	14	104199002	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	34936006	104199002	3150538	90	62884											
AHNAK2	113146	broad.mit.edu	37	chr14	105417703	105417703	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatggaggggaggctcAtgtcggcctccaccttgggt	5	9	15	12	1	1	0	1	0	0	0	3	2	2	2	4	6	1	2	4	6	0	1			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr14:105417703A>C	ENST00000333244.5	-	7	4204	c.4085T>G	c.(4084-4086)aTg>aGg	p.M1362R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1362						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGGAGGCTCATGTCGGCCTC	0.602													29	172					0	0	0	0	C	105417703	A	C	105417703	3	2	337	1	0	0	0	0	1	0	0	0	415	217	8	5	13306	5	AHNAK2	14	105417703	Missense_Mutation	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08	1218701	105417703	1931837	91	62885											
OTUD7A	161725	broad.mit.edu	37	chr15	31947302	31947302	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggaggtgggcttaccttCcagcaggtctctggccagac	8	8	13	12	0	1	1	0	0	1	1	3	2	2	2	3	5	2	2	3	5	2	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr15:31947302C>A	ENST00000382902.1	-	1	240	c.148G>T	c.(148-150)Gaa>Taa	p.E50*	OTUD7A_ENST00000307050.4_Nonsense_Mutation_p.E50*			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	50						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGCTTACCTTCCAGCAGGTCT	0.507													12	9					0.000219431	0.000236078	1	0	A	31947302	C	A	31947302	4	1	337	1	0	0	0	0	0	1	0	0	11389	864	30	2	2676	2	OTUD7A	15	31947302	Nonsense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08		31947302	70584090	92	62886											
PARP6	56965	broad.mit.edu	37	chr15	72552938	72552938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcatggtacaggagaTggaacggttcatgaggcgcc	9	10	14	8	2	3	2	2	1	1	1	3	4	3	3	1	5	2	3	1	5	2	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr15:72552938T>C	ENST00000569795.1	-	10	1324	c.637A>G	c.(637-639)Atc>Gtc	p.I213V	PARP6_ENST00000287196.9_Missense_Mutation_p.I213V|PARP6_ENST00000260376.7_Missense_Mutation_p.I213V|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	213							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GTACAGGAGATGGAACGGTTC	0.582													135	231					0	0	0	0	C	72552938	T	C	72552938	3	2	337	1	0	0	0	0	1	0	0	0	11535	1464	51	5	1315	5	PARP6	15	72552938	Missense_Mutation	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08	40605636	72552938	29978454	93	62887											
C15orf39	56905	broad.mit.edu	37	chr15	75501072	75501072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccaggctgcacctcaCgcatgctgaagttactggcg	7	8	11	15	2	1	1	1	1	0	0	1	1	1	1	3	2	4	5	3	2	2	1	rs79122600		TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr15:75501072C>T	ENST00000360639.2	+	2	3003	c.2683C>T	c.(2683-2685)Cgc>Tgc	p.R895C	C15orf39_ENST00000567617.1_Missense_Mutation_p.R895C|C15orf39_ENST00000394987.4_Missense_Mutation_p.R895C			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	895										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTGCACCTCACGCATGCTGAA	0.672													3	14					0	0	0	0	T	75501072	C	T	75501072	3	4	337	1	0	0	0	0	1	0	0	0	1805	536	19	1	2685	1	C15orf39	15	75501072	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	2948134	75501072	27030320	94	62888											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53639489	53639489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcacactccaggtcctgctCgtcctctggagggtcactga	6	10	10	15	1	3	1	2	1	1	0	7	2	6	2	3	3	1	1	3	3	0	0			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr16:53639489C>T	ENST00000262135.4	-	24	3592	c.3499G>A	c.(3499-3501)Gag>Aag	p.E1167K	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E1201K|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E1247K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E1213K	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1247					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AGGTCCTGCTCGTCCTCTGGA	0.527													7	48					0	0	0	0	T	53639489	C	T	53639489	3	4	337	1	0	0	0	0	1	0	0	0	13635	893	31	1	216	1	RPGRIP1L	16	53639489	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08		53639489	36715264	95	62889											
CLEC18B	497190	broad.mit.edu	37	chr16	74447538	74447538	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcagagcacaggtgccGcccacagcccagctggcttg	7	5	13	16	1	0	1	0	0	0	1	0	1	0	1	4	2	5	4	4	2	0	1			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr16:74447538G>T	ENST00000339953.5	-	4	614	c.493C>A	c.(493-495)Cgg>Agg	p.R165R		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	165	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CACAGGTGCCGCCCACAGCCC	0.612													6	106					0.0215528	0.0216918	1	0	T	74447538	G	T	74447538	2	4	337	1	0	0	0	0	0	0	0	1	3533	1086	38	3		3	CLEC18B	16	74447538	Silent	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	20808049	74447538	15907215	96	62890											
WDR59	79726	broad.mit.edu	37	chr16	74949804	74949804	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggatttgcacattgatcagGgagaattcctgctgcaaggt	10	11	12	8	1	1	2	1	1	0	1	2	4	2	3	1	3	3	3	1	3	2	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr16:74949804G>C	ENST00000262144.6	-	13	1318	c.1188C>G	c.(1186-1188)tcC>tcG	p.S396S		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	396	RWD.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CATTGATCAGGGAGAATTCCT	0.468													7	56					0	0	0	0	C	74949804	G	C	74949804	2	2	337	1	0	0	0	0	0	0	0	1	17404	1219	43	4		4	WDR59	16	74949804	Silent	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	502266	74949804	15404949	97	62891											
ADAMTS18	170692	broad.mit.edu	37	chr16	77334208	77334208	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcacgatactccaggtatAggcaggtctttttgtggctg	7	13	12	9	1	1	0	0	0	1	0	2	1	2	0	1	4	2	4	1	4	3	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr16:77334208A>G	ENST00000282849.5	-	17	3044	c.2626T>C	c.(2626-2628)Tat>Cat	p.Y876H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	876	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTCCAGGTATAGGCAGGTCTT	0.468													4	51					0	0	0	0	G	77334208	A	G	77334208	3	3	337	1	0	0	0	0	1	0	0	0	263	420	15	5	1067	5	ADAMTS18	16	77334208	Missense_Mutation	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08	2384404	77334208	13020545	98	62892											
OR1D2	4991	broad.mit.edu	37	chr17	2996173	2996173	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgatgagcacatttcccaCcaccgtgaccaggtacatgg	11	8	10	12	1	0	3	0	3	0	0	1	4	1	3	4	2	2	2	4	2	1	2	rs140099014	byFrequency	TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr17:2996173C>G	ENST00000331459.1	-	1	117	c.118G>C	c.(118-120)Gtg>Ctg	p.V40L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	40					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ACATTTCCCACCACCGTGACC	0.547													6	124					0	0	0	0	G	2996173	C	G	2996173	3	3	337	1	0	0	0	0	1	0	0	0	11024	507	18	4	823	4	OR1D2	17	2996173	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08		2996173	78199037	99	62893											
SLC2A4	6517	broad.mit.edu	37	chr17	7189281	7189281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagaggtgggcatcacaCagctagcccacctgcttccc	8	6	11	16	0	1	1	1	0	0	1	2	1	2	1	4	3	3	3	4	3	1	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr17:7189281C>A	ENST00000424875.2	+	10	1647	c.1350C>A	c.(1348-1350)caC>caA	p.H450Q	SLC2A4_ENST00000571308.1_Missense_Mutation_p.H460Q|SLC2A4_ENST00000317370.8_Intron			P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	0					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGGCATCACACAGCTAGCCCA	0.592													4	11					0.00024832	0.000265328	1	0	A	7189281	C	A	7189281	3	1	337	1	0	0	0	0	1	0	0	0	14634	493	17	4		4	SLC2A4	17	7189281	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	4193108	7189281	74005929	100	62894											
TP53	7157	broad.mit.edu	37	chr17	7579699	7579699	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcccaacccttgtccttaCcagaacgttgttttcaggaa	10	11	7	13	1	1	1	1	0	0	1	2	2	2	2	4	1	4	2	4	1	4	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr17:7579699C>A	ENST00000420246.2	-	3	229		c.e3+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTGTCCTTACCAGAACGTTG	0.597		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	35					4.3838e-07	4.88481e-07	1	0	A	7579699	C	A	7579699	5	1	337	1	0	0	0	0	0	0	1	0	16476	521	18	4	1209	4	TP53	17	7579699	Splice_Site	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	390418	7579699	73615511	101	62895											
CNTNAP1	8506	broad.mit.edu	37	chr17	40844735	40844735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgaccagcccctctatGtgggtaagcagcaacccaga	12	7	10	12	0	1	2	0	1	1	1	1	2	1	2	4	1	4	4	4	1	4	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr17:40844735G>A	ENST00000264638.4	+	17	2966	c.2749G>A	c.(2749-2751)Gtg>Atg	p.V917M	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	917	Laminin G-like 3.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCCCCTCTATGTGGGTAAGCA	0.602													18	22					0	0	0	0	A	40844735	G	A	40844735	3	1	337	1	0	0	0	0	1	0	0	0	3676	1377	48	4	2815	4	CNTNAP1	17	40844735	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	33265036	40844735	40350475	102	62896											
ERN1	2081	broad.mit.edu	37	chr17	62122834	62122834	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattccttttctattctgtcGctcacgtcctgtgagagaaa	8	15	8	10	2	3	2	1	1	2	1	6	4	5	2	2	0	0	1	2	0	2	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr17:62122834G>A	ENST00000433197.2	-	20	2633	c.2538C>T	c.(2536-2538)agC>agT	p.S846S		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	846	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTATTCTGTCGCTCACGTCCT	0.542													11	47					0	0	0	0	A	62122834	G	A	62122834	2	1	337	1	0	0	0	0	0	0	0	1	5275	1078	38	1		1	ERN1	17	62122834	Silent	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	21278099	62122834	19072376	103	62897											
KCNJ16	3773	broad.mit.edu	37	chr17	68129080	68129080	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttggtgacatttatctaTactggtgattccactggaac	10	16	8	7	0	1	2	0	2	1	0	2	3	2	3	1	3	2	0	1	3	4	7			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr17:68129080T>C	ENST00000585558.1	+	4	1345	c.957T>C	c.(955-957)taT>taC	p.Y319Y	KCNJ16_ENST00000589377.1_Silent_p.Y284Y|KCNJ16_ENST00000283936.1_Silent_p.Y284Y|KCNJ16_ENST00000392671.1_Silent_p.Y284Y|KCNJ16_ENST00000586462.1_Silent_p.Y323Y|KCNJ16_ENST00000392670.1_Silent_p.Y284Y			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	284					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CATTTATCTATACTGGTGATT	0.418													48	66					0	0	0	0	C	68129080	T	C	68129080	2	2	337	1	0	0	0	0	0	0	0	1	8103	1413	49	5		5	KCNJ16	17	68129080	Silent	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08	6006246	68129080	13066130	104	62898											
RNF213	57674	broad.mit.edu	37	chr17	78355364	78355364	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggctctgataaacatcatTaagcctccagtgagggatcc	12	9	9	11	0	2	2	1	2	1	0	4	3	4	3	3	2	2	1	3	2	3	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr17:78355364T>A	ENST00000582970.1	+	57	13958	c.13815T>A	c.(13813-13815)atT>atA	p.I4605I	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.I2678I|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Silent_p.I4654I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAAACATCATTAAGCCTCCAG	0.547													16	24					0	0	0	0	A	78355364	T	A	78355364	2	1	337	1	0	0	0	0	0	0	0	1	13562	1742	61	5		5	RNF213	17	78355364	Silent	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08	10226284	78355364	2839846	105	62899											
SMCHD1	23347	broad.mit.edu	37	chr18	2760723	2760723	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatggataaaacaaatattCtcaacagtgaacaggtttgc	16	11	8	6	0	1	2	1	2	1	0	2	3	1	3	0	2	4	1	0	2	6	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr18:2760723C>G	ENST00000320876.6	+	35	4758	c.4420C>G	c.(4420-4422)Ctc>Gtc	p.L1474V	SMCHD1_ENST00000261598.8_Missense_Mutation_p.L1474V|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1474					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AACAAATATTCTCAACAGTGA	0.294													5	33					0	0	0	0	G	2760723	C	G	2760723	3	3	337	1	0	0	0	0	1	0	0	0	14876	913	32	2	4558	2	SMCHD1	18	2760723	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08		2760723	75316525	106	62900											
NOL4	8715	broad.mit.edu	37	chr18	31709908	31709908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccccgtttccacatgcatcGaataaataatgtcaaagaaa	16	9	6	10	2	1	1	1	0	0	1	3	2	2	1	3	0	1	2	3	0	6	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr18:31709908G>A	ENST00000261592.5	-	2	638	c.341C>T	c.(340-342)tCg>tTg	p.S114L	NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.S114L|NOL4_ENST00000538587.1_Missense_Mutation_p.S40L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	114						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CACATGCATCGAATAAATAAT	0.388													8	26					0	0	0	0	A	31709908	G	A	31709908	3	1	337	1	0	0	0	0	1	0	0	0	10594	1059	37	1	1615	1	NOL4	18	31709908	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	28949185	31709908	46367340	107	62901											
COL5A3	50509	broad.mit.edu	37	chr19	10108062	10108062	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccggtggaccagggtcGccagggaatcctggggggcc	6	6	17	12	2	0	0	0	0	0	0	2	2	1	2	5	7	1	0	5	7	2	1			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr19:10108062G>A	ENST00000264828.3	-	11	1333	c.1248C>T	c.(1246-1248)ggC>ggT	p.G416G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	416	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GACCAGGGTCGCCAGGGAATC	0.597													3	17					0	0	0	0	A	10108062	G	A	10108062	2	1	337	1	0	0	0	0	0	0	0	1	3728	1074	38	1		1	COL5A3	19	10108062	Silent	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08		10108062	49020921	108	62902											
MAST3	23031	broad.mit.edu	37	chr19	18255941	18255941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcctgcggccccccatcGttatccacagctctggcaag	7	7	10	17	2	1	0	0	0	1	0	3	0	2	0	5	2	3	4	5	2	2	1			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr19:18255941G>A	ENST00000262811.5	+	23	2854	c.2854G>A	c.(2854-2856)Gtt>Att	p.V952I	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	952	PDZ.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCCCCCATCGTTATCCACAG	0.652													21	108					0	0	0	0	A	18255941	G	A	18255941	3	1	337	1	0	0	0	0	1	0	0	0	9395	1145	40	1	2944	1	MAST3	19	18255941	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	8147879	18255941	40873042	109	62903											
NPHS1	4868	broad.mit.edu	37	chr19	36341934	36341934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccacgtactcctgcccaGctacccaggtgaccatggtg	8	8	10	15	1	0	2	0	2	0	0	1	2	1	2	5	2	4	2	5	2	2	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr19:36341934G>A	ENST00000378910.5	-	4	454	c.455C>T	c.(454-456)gCt>gTt	p.A152V	NPHS1_ENST00000353632.6_Missense_Mutation_p.A152V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	152	Ig-like C2-type 2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCTGCCCAGCTACCCAGGT	0.602													3	42					0	0	0	0	A	36341934	G	A	36341934	3	1	337	1	0	0	0	0	1	0	0	0	10652	971	34	4	3374	4	NPHS1	19	36341934	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	18085993	36341934	22787049	110	62904											
LYPD3	27076	broad.mit.edu	37	chr19	43967419	43967419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtagcactccacgccgttggGcgggtatgcactctcattac	7	10	11	13	3	1	0	1	0	1	0	3	0	2	0	2	2	3	5	2	2	3	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr19:43967419G>T	ENST00000244333.3	-	4	491	c.403C>A	c.(403-405)Ccc>Acc	p.P135T		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	135						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACGCCGTTGGGCGGGTATGCA	0.637													15	34					6.31663e-08	7.19266e-08	1	0	T	43967419	G	T	43967419	3	4	337	1	0	0	0	0	1	0	0	0	9176	1203	42	4	645	4	LYPD3	19	43967419	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	7625485	43967419	15161564	111	62905											
ZNF347	84671	broad.mit.edu	37	chr19	53645507	53645507	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaagctgcagttcaggcaGatgtgactgaaggcttaatc	14	9	11	7	0	1	3	1	2	0	1	2	3	1	3	0	2	2	5	0	2	4	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr19:53645507G>C	ENST00000452676.2	-	5	1003	c.577C>G	c.(577-579)Ctg>Gtg	p.L193V	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.L193V|ZNF347_ENST00000334197.7_Missense_Mutation_p.L192V	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGTTCAGGCAGATGTGACTGA	0.368													11	72					0	0	0	0	C	53645507	G	C	53645507	3	2	337	1	0	0	0	0	1	0	0	0	17956	933	33	2	1949	2	ZNF347	19	53645507	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	9678088	53645507	5483476	112	62906											
RRBP1	6238	broad.mit.edu	37	chr20	17599307	17599307	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgagctgagattgagattcTaggagaagttgcctcagctt	10	12	12	7	1	2	3	1	2	1	3	3	7	2	3	1	1	3	3	1	1	2	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr20:17599307T>C	ENST00000377813.1	-	20	3996	c.3693A>G	c.(3691-3693)ctA>ctG	p.L1231L	RRBP1_ENST00000246043.4_Silent_p.L1231L|RRBP1_ENST00000468428.1_5'UTR|RRBP1_ENST00000360807.4_Silent_p.L798L|RRBP1_ENST00000455029.2_Silent_p.L572L|RRBP1_ENST00000377807.2_Silent_p.L798L			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1231					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ATTGAGATTCTAGGAGAAGTT	0.542													6	46					0	0	0	0	C	17599307	T	C	17599307	2	2	337	1	0	0	0	0	0	0	0	1	13763	1509	53	5		5	RRBP1	20	17599307	Silent	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08		17599307	45426213	113	62907											
XRN2	22803	broad.mit.edu	37	chr20	21306917	21306917	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taattatcacttcctcatagCcaaaagaatgcaatggtgta	15	12	6	8	0	2	1	2	0	0	1	3	1	3	1	2	1	2	2	2	1	8	5			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr20:21306917C>T	ENST00000377191.3	+	2	171	c.75_splice	c.e2-1	p.P26_splice	XRN2_ENST00000539513.1_5'UTR|XRN2_ENST00000430571.2_Intron	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	26					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTCCTCATAGCCAAAAGAATG	0.333													5	46					0	0	0	0	T	21306917	C	T	21306917	5	4	337	1	0	0	0	0	0	0	1	0	17556	753	26	4	82	4	XRN2	20	21306917	Splice_Site	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	3707610	21306917	41718603	114	62908											
TGM2	7052	broad.mit.edu	37	chr20	36767845	36767845	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaggtgtgggtgatatcCtcccgctcgtctcggcccac	4	12	12	13	3	1	1	0	1	1	0	5	1	3	1	3	3	0	2	3	3	2	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr20:36767845C>T	ENST00000361475.2	-	9	1484	c.1311G>A	c.(1309-1311)gaG>gaA	p.E437E	TGM2_ENST00000536724.1_Silent_p.E377E|TGM2_ENST00000536701.1_Silent_p.E356E	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	437					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GGGTGATATCCTCCCGCTCGT	0.547													4	45					0	0	0	0	T	36767845	C	T	36767845	2	4	337	1	0	0	0	0	0	0	0	1	15924	680	24	4		4	TGM2	20	36767845	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	15460928	36767845	26257675	115	62909											
TAF4	6874	broad.mit.edu	37	chr20	60581737	60581737	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggcctgcgaggtgggCggtggcggctgctgctggct	1	9	22	9	3	0	0	0	0	0	0	0	1	0	0	1	8	3	4	1	8	0	0			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr20:60581737C>T	ENST00000252996.3	-	7	2051	c.2052G>A	c.(2050-2052)ccG>ccA	p.P684P	TAF4_ENST00000488539.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	684	Poly-Pro.|TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GCGAGGTGGGCGGTGGCGGCT	0.692													8	37					0	0	0	0	T	60581737	C	T	60581737	2	4	337	1	0	0	0	0	0	0	0	1	15617	755	27	1		1	TAF4	20	60581737	Silent	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	23813892	60581737	2443783	116	62910											
UMODL1	89766	broad.mit.edu	37	chr21	43531711	43531711	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgccacccgttccacccgGgaaacacttctgaatcccac	10	7	6	18	2	1	1	0	1	1	0	3	2	3	2	5	1	2	1	5	1	2	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr21:43531711G>A	ENST00000400427.1	+	11	2559	c.2163G>A	c.(2161-2163)cgG>cgA	p.R721R	UMODL1_ENST00000408989.2_Silent_p.R793R|UMODL1_ENST00000400424.1_Silent_p.R593R|UMODL1_ENST00000408910.2_Silent_p.R665R	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	718	Fibronectin type-III 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GTTCCACCCGGGAAACACTTC	0.602													18	24					0	0	0	0	A	43531711	G	A	43531711	2	1	337	1	0	0	0	0	0	0	0	1	17076	1219	43	4		4	UMODL1	21	43531711	Silent	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08		43531711	4598184	117	62911											
PCNT	5116	broad.mit.edu	37	chr21	47860937	47860937	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaagcagaacggaaaaTcacatctcgtcctttcacca	14	9	5	13	2	3	1	2	0	1	1	6	2	5	2	3	1	2	1	3	1	4	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr21:47860937T>A	ENST00000359568.5	+	43	9670	c.9563T>A	c.(9562-9564)aTc>aAc	p.I3188N	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3188	Interaction with NEK2.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAACGGAAAATCACATCTCGT	0.473													20	38					0	0	0	0	A	47860937	T	A	47860937	3	1	337	1	0	0	0	0	1	0	0	0	11661	1435	50	5	9733	5	PCNT	21	47860937	Missense_Mutation	SNP	T	TCGA-CV-A45X-01A-21D-A25D-08	4329226	47860937	268958	118	62912											
TFIP11	24144	broad.mit.edu	37	chr22	26895271	26895271	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactcctccaccatctccagGaccttgctgaggttcgagat	8	10	8	15	1	1	2	0	1	1	1	5	4	3	3	5	2	1	2	5	2	0	2			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr22:26895271G>T	ENST00000407690.1	-	9	1411	c.1128C>A	c.(1126-1128)gtC>gtA	p.V376V	TFIP11_ENST00000407431.1_Silent_p.V376V|TFIP11_ENST00000407148.1_Silent_p.V376V|TFIP11_ENST00000405938.1_Silent_p.V376V	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	376					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CCATCTCCAGGACCTTGCTGA	0.617													39	52					3.33393e-15	4.03173e-15	1	0	T	26895271	G	T	26895271	2	4	337	1	0	0	0	0	0	0	0	1	15901	1161	41	2		2	TFIP11	22	26895271	Silent	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08		26895271	24409295	119	62913											
PLA2G6	8398	broad.mit.edu	37	chr22	38531073	38531073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctggctgctgtccatgctGatgatcatctccgcacacct	7	12	8	14	1	3	2	1	2	2	0	5	2	4	2	3	1	2	4	3	1	0	0			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr22:38531073G>C	ENST00000332509.3	-	6	999	c.816C>G	c.(814-816)atC>atG	p.I272M	PLA2G6_ENST00000335539.3_Missense_Mutation_p.I272M|PLA2G6_ENST00000402064.1_Missense_Mutation_p.I272M	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	272					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TGTCCATGCTGATGATCATCT	0.612													15	32					0	0	0	0	C	38531073	G	C	38531073	3	2	337	1	0	0	0	0	1	0	0	0	12080	1280	45	2	1652	2	PLA2G6	22	38531073	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	11635802	38531073	12773493	120	62914											
CYP2D6	1565	broad.mit.edu	37	chr22	42523915	42523915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgaggtggtcaccatcccgGcagagaacaggtcagccacc	10	5	12	14	2	2	1	2	0	0	1	4	3	3	1	4	4	2	1	4	4	1	0			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chr22:42523915G>A	ENST00000360608.5	-	6	1028	c.914C>T	c.(913-915)gCc>gTc	p.A305V	NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A305V|CYP2D6_ENST00000359033.4_Missense_Mutation_p.A254V	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	305							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACCATCCCGGCAGAGAACAG	0.607													8	73					0	0	0	0	A	42523915	G	A	42523915	3	1	337	1	0	0	0	0	1	0	0	0	4201	1203	42	4	595	4	CYP2D6	22	42523915	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	3992842	42523915	8780651	121	62915											
NAP1L3	4675	broad.mit.edu	37	chrX	92927520	92927520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttaggctgttctttatCatctgcctttacctggggga	5	17	10	9	0	3	0	1	0	2	0	3	1	3	1	2	3	3	3	2	3	3	7			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chrX:92927520C>A	ENST00000373079.3	-	1	1047	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	262					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TGTTCTTTATCATCTGCCTTT	0.443													9	50					2.17888e-05	2.3937e-05	1	0	A	92927520	C	A	92927520	3	1	337	1	0	0	0	0	1	0	0	0	10228	826	29	2	740	2	NAP1L3	23	92927520	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08		92927520	62343040	122	62916											
PLS3	5358	broad.mit.edu	37	chrX	114874792	114874792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaaggtgaaccacggataGatattaacatgtcaggtttc	14	10	11	6	1	1	2	1	1	0	1	2	4	1	4	1	4	2	1	1	4	5	4			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chrX:114874792G>A	ENST00000420625.2	+	9	1098	c.964G>A	c.(964-966)Gat>Aat	p.D322N	PLS3_ENST00000537301.1_Missense_Mutation_p.D309N|PLS3_ENST00000355899.3_Missense_Mutation_p.D322N|PLS3_ENST00000289290.3_Missense_Mutation_p.D286N|PLS3_ENST00000543070.1_5'UTR|PLS3_ENST00000539310.1_Missense_Mutation_p.D277N	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	322	Actin-binding 1.|CH 2.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						ACCACGGATAGATATTAACAT	0.313													11	26					0	0	0	0	A	114874792	G	A	114874792	3	1	337	1	0	0	0	0	1	0	0	0	12180	942	33	2	994	2	PLS3	23	114874792	Missense_Mutation	SNP	G	TCGA-CV-A45X-01A-21D-A25D-08	21947272	114874792	40395768	123	62917											
ZIC3	7547	broad.mit.edu	37	chrX	136649292	136649292	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggctcggcgagcagcctgCatgctccagctggcatcccc	5	6	12	18	3	0	0	0	0	0	0	3	1	2	0	5	3	5	6	5	3	0	0			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chrX:136649292C>A	ENST00000287538.5	+	1	992	c.442C>A	c.(442-444)Cat>Aat	p.H148N	ZIC3_ENST00000370606.3_Missense_Mutation_p.H148N	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	148					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GAGCAGCCTGCATGCTCCAGC	0.701													4	12					0.00909568	0.00927403	1	0	A	136649292	C	A	136649292	3	1	337	1	0	0	0	0	1	0	0	0	17775	710	25	4	444	4	ZIC3	23	136649292	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	21774500	136649292	18621268	124	62918											
FLNA	2316	broad.mit.edu	37	chrX	153588703	153588703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtcaaagcagggaaccaCgtgggccttgaatggggagc	10	6	16	9	2	1	1	1	1	0	0	1	3	1	3	2	4	4	1	2	4	3	1			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chrX:153588703C>T	ENST00000422373.1	-	22	3708	c.3460G>A	c.(3460-3462)Gtg>Atg	p.V1154M	FLNA_ENST00000369850.3_Missense_Mutation_p.V1154M|FLNA_ENST00000344736.4_Missense_Mutation_p.V1154M|FLNA_ENST00000360319.4_Missense_Mutation_p.V1154M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1154					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGGAACCACGTGGGCCTTG	0.622											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	36					0	0	0	0	T	153588703	C	T	153588703	3	4	337	1	0	0	0	0	1	0	0	0	5978	536	19	1	4591	1	FLNA	23	153588703	Missense_Mutation	SNP	C	TCGA-CV-A45X-01A-21D-A25D-08	16939411	153588703	1681857	125	62919											
ZFY	7544	broad.mit.edu	37	chrY	2829478	2829478	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaacgagtgaatccatgcAtgtgtgtgacattggacatg	11	13	11	6	1	0	2	0	2	0	0	1	4	1	3	1	1	2	1	1	1	2	3			TCGA-CV-A45X-01A-21D-A25D-08	TCGA-CV-A45X-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a0aa7be-5c98-48b3-b58b-a289643ed2e0	c9738e6d-fbef-41e4-98d5-3ed2934f18bd	g.chrY:2829478A>T	ENST00000155093.3	+	3	746	c.425A>T	c.(424-426)cAt>cTt	p.H142L	ZFY_ENST00000449237.1_Missense_Mutation_p.H116L|ZFY_ENST00000383052.1_Missense_Mutation_p.H142L|ZFY_ENST00000431102.1_Intron	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						GAATCCATGCATGTGTGTGAC	0.403													94	53					0	0	0	0	T	2829478	A	T	2829478	3	4	337	1	0	0	0	0	1	0	0	0	17757	217	8	5	431	5	ZFY	24	2829478	Missense_Mutation	SNP	A	TCGA-CV-A45X-01A-21D-A25D-08		2829478	56544088	126	62920											
CPSF3L	54973	broad.mit.edu	37	chr1	1249181	1249181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaactcaaacatgttcctCtgcacgaaagtcttgcggat	11	12	8	10	2	3	1	1	1	2	0	4	3	4	2	1	1	4	2	1	1	3	3			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:1249181C>G	ENST00000540437.1	-	11	1361	c.906G>C	c.(904-906)caG>caC	p.Q302H	CPSF3L_ENST00000421495.2_Missense_Mutation_p.Q38H|CPSF3L_ENST00000545578.1_Missense_Mutation_p.Q267H|CPSF3L_ENST00000450926.2_Missense_Mutation_p.Q274H|CPSF3L_ENST00000411962.1_Missense_Mutation_p.Q198H|CPSF3L_ENST00000435064.1_Missense_Mutation_p.Q296H|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000419704.1_Missense_Mutation_p.Q195H	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	296						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ACATGTTCCTCTGCACGAAAG	0.577													4	79					0	0	0	0	G	1249181	C	G	1249181	3	3	338	1	0	0	0	0	1	0	0	0	3857	912	32	2	950	2	CPSF3L	1	1249181	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08		1249181	248001440	1	62921											
DNAJC11	55735	broad.mit.edu	37	chr1	6711664	6711664	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctccaaattccaacTgtttgaaaaggaaaaagaga	17	8	7	9	0	0	2	0	1	0	1	3	4	3	3	3	1	2	2	3	1	6	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:6711664T>A	ENST00000377577.5	-	7	754		c.e7-2		DNAJC11_ENST00000377573.5_Splice_Site|DNAJC11_ENST00000294401.7_Splice_Site|DNAJC11_ENST00000542246.1_Splice_Site|DNAJC11_ENST00000349363.6_Splice_Site	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11						protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		AAATTCCAACTGTTTGAAAAG	0.433													4	19					0	0	0	0	A	6711664	T	A	6711664	5	1	338	1	0	0	0	0	0	0	1	0	4666	1594	55	5	1090	5	DNAJC11	1	6711664	Splice_Site	SNP	T	TCGA-CV-A45Y-01A-11D-A25D-08	5462483	6711664	242538957	2	62922											
CAMTA1	23261	broad.mit.edu	37	chr1	7724935	7724935	+	Frame_Shift_Del	DEL	G	G	-																															agcaaccagttctccgacctGatcaacgacttcatctccgt																										TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:7724935delG	ENST00000303635.7	+	9	2535	c.2328delG	c.(2326-2328)ctfs	p.L776fs	CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.L776fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCTCCGACCTGATCAACGACT	0.627			T	WWTR1	epitheliod hemangioendothelioma								42	305	---	---	---	---					-	7724935	G	-	7724935	7	5	338	1	0	1	0	1	0	0	0	0	2638	1277	45	0	2362	0	CAMTA1	1	7724935	Frame_Shift_Del	DEL	G	TCGA-CV-A45Y-01A-11D-A25D-08	1013271	7724935	241525686	3	62923											
SPEN	23013	broad.mit.edu	37	chr1	16245988	16245988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtatttaacacgacatttCtgccgatatgggcctgtggt	9	13	10	9	2	1	0	0	0	1	0	1	2	1	0	2	2	2	1	2	2	3	5			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:16245988C>G	ENST00000375759.3	+	8	1815	c.1611C>G	c.(1609-1611)ttC>ttG	p.F537L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	537	RRM 4.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CACGACATTTCTGCCGATATG	0.453													5	96					0	0	0	0	G	16245988	C	G	16245988	3	3	338	1	0	0	0	0	1	0	0	0	15128	912	32	2	1641	2	SPEN	1	16245988	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	8521053	16245988	233004633	4	62924											
KPNA6	23633	broad.mit.edu	37	chr1	32622536	32622536	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggactcttatgtgagctCtaccactggggtaaggcccc	8	10	11	12	0	2	1	0	1	2	0	2	2	2	2	3	4	2	2	3	4	3	3			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:32622536C>G	ENST00000373625.3	+	3	314	c.221C>G	c.(220-222)tCt>tGt	p.S74C	KPNA6_ENST00000537234.1_Missense_Mutation_p.S71C|KPNA6_ENST00000545542.1_Missense_Mutation_p.S79C|KPNA6_ENST00000469790.1_3'UTR	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	74					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TATGTGAGCTCTACCACTGGG	0.468													4	62					0	0	0	0	G	32622536	C	G	32622536	3	3	338	1	0	0	0	0	1	0	0	0	8486	913	32	2	231	2	KPNA6	1	32622536	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	16376548	32622536	216628085	5	62925											
GNL2	29889	broad.mit.edu	37	chr1	38032593	38032593	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttttcggccgttgctgtcGtactgctcgcctccgctgta	2	16	10	13	5	0	0	0	0	0	0	4	0	1	0	3	1	3	6	3	1	2	6			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:38032593G>A	ENST00000373062.3	-	16	2157	c.2059C>T	c.(2059-2061)Cga>Tga	p.R687*	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	687					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CGTTGCTGTCGTACTGCTCGC	0.418													6	65					0	0	0	0	A	38032593	G	A	38032593	4	1	338	1	0	0	0	0	0	1	0	0	6587	1153	40	1	140	1	GNL2	1	38032593	Nonsense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	5410057	38032593	211218028	6	62926											
CYP4A22	284541	broad.mit.edu	37	chr1	47607877	47607877	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcctgaagccatacgtgggGctcatggcagactctgtacg	9	9	12	11	2	2	2	1	1	1	1	3	2	3	2	2	3	3	3	2	3	3	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:47607877G>A	ENST00000371891.3	+	4	511	c.480G>A	c.(478-480)ggG>ggA	p.G160G	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.G160G|CYP4A22_ENST00000371890.3_Silent_p.G160G|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	160						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATACGTGGGGCTCATGGCAG	0.557													8	38					0	0	0	0	A	47607877	G	A	47607877	2	1	338	1	0	0	0	0	0	0	0	1	4216	1190	42	4		4	CYP4A22	1	47607877	Silent	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	9575284	47607877	201642744	7	62927											
GJA5	2702	broad.mit.edu	37	chr1	147230868	147230868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccacctccatggtggtgCggatcaggatgctgcacaca	9	7	12	13	1	1	0	1	0	0	0	2	2	2	2	3	4	4	2	3	4	0	0			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:147230868C>T	ENST00000271348.2	-	2	640	c.479G>A	c.(478-480)cGc>cAc	p.R160H	GJA5_ENST00000369237.1_Missense_Mutation_p.R160H	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	160					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CATGGTGGTGCGGATCAGGAT	0.587													14	68					0	0	0	0	T	147230868	C	T	147230868	3	4	338	1	0	0	0	0	1	0	0	0	6455	768	27	1	601	1	GJA5	1	147230868	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	99622991	147230868	102019753	8	62928											
UHMK1	127933	broad.mit.edu	37	chr1	162469842	162469842	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcagtgtttcggaattgctCttatattccagtcaccaggg	8	14	10	9	1	3	0	2	0	1	0	5	1	4	1	2	2	1	2	2	2	3	5			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:162469842C>G	ENST00000489294.1	+	2	524	c.366C>G	c.(364-366)ctC>ctG	p.L122L	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Silent_p.L122L|UHMK1_ENST00000545294.1_Silent_p.L48L	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	122	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CGGAATTGCTCTTATATTCCA	0.453													5	94					0	0	0	0	G	162469842	C	G	162469842	2	3	338	1	0	0	0	0	0	0	0	1	17062	900	32	2		2	UHMK1	1	162469842	Silent	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	15238974	162469842	86780779	9	62929											
ACBD3	64746	broad.mit.edu	37	chr1	226334469	226334469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtacacaggcacaatctcatCcagcaaaggcttgttggcat	12	9	9	11	0	1	0	1	0	1	0	3	0	2	0	1	3	2	6	1	3	3	3			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:226334469C>G	ENST00000366812.5	-	8	1483	c.1429G>C	c.(1429-1431)Gat>Cat	p.D477H		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	477	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		ACAATCTCATCCAGCAAAGGC	0.458													5	108					0	0	0	0	G	226334469	C	G	226334469	3	3	338	1	0	0	0	0	1	0	0	0	123	855	30	2	161	2	ACBD3	1	226334469	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	63864627	226334469	22916152	10	62930											
TRIM11	81559	broad.mit.edu	37	chr1	228582764	228582764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcccagctggtgcggTccccaacctccacctcccag	6	5	10	20	1	0	0	0	0	0	0	3	0	3	0	8	3	3	1	8	3	1	0			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:228582764T>C	ENST00000493030.2	-	5	4383	c.674A>G	c.(673-675)gAc>gGc	p.D225G	TRIM11_ENST00000284551.6_Missense_Mutation_p.D350G|TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA			Q96F44	TRI11_HUMAN	tripartite motif containing 11	350					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCTGGTGCGGTCCCCAACCTC	0.687													5	50					0	0	0	0	C	228582764	T	C	228582764	3	2	338	1	0	0	0	0	1	0	0	0	16582	1667	58	5	361	5	TRIM11	1	228582764	Missense_Mutation	SNP	T	TCGA-CV-A45Y-01A-11D-A25D-08	2248295	228582764	20667857	11	62931											
OR2M7	391196	broad.mit.edu	37	chr1	248487611	248487611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaaatggacttgctgccaGacaagtagttgaaggccatc	13	9	11	8	0	0	3	0	1	0	2	1	4	0	4	2	2	2	3	2	2	5	4			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:248487611G>C	ENST00000317965.2	-	1	288	c.260C>G	c.(259-261)tCt>tGt	p.S87C		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTGCTGCCAGACAAGTAGTT	0.483													10	334					0	0	0	0	C	248487611	G	C	248487611	3	2	338	1	0	0	0	0	1	0	0	0	11085	942	33	2	681	2	OR2M7	1	248487611	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	19904847	248487611	763010	12	62932											
DNMT3A	1788	broad.mit.edu	37	chr2	25498412	25498412	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtctccttctgttctttgCctgtggagagggaagaacaa	8	13	12	8	0	3	2	0	0	3	2	4	4	3	3	2	3	2	1	2	3	3	3			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:25498412C>A	ENST00000264709.3	-	5	786	c.448_splice	c.e5-1	p.G150_splice	DNMT3A_ENST00000321117.5_Splice_Site_p.G150_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	150					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTTCTTTGCCTGTGGAGAG	0.562			"Mis, F, N, S"		AML								19	143					1.33834e-09	1.50563e-09	1	0	A	25498412	C	A	25498412	5	1	338	1	0	0	0	0	0	0	1	0	4712	753	26	4	2445	4	DNMT3A	2	25498412	Splice_Site	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08		25498412	217700961	13	62933											
SLC8A1	6546	broad.mit.edu	37	chr2	40366587	40366587	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacacgactgcagtcacagaAtctttcaggccaatggtgca	13	8	9	11	1	3	1	2	0	1	1	3	2	3	1	1	2	3	2	1	2	3	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:40366587A>G	ENST00000406785.1	-	7	2580	c.2391T>C	c.(2389-2391)gaT>gaC	p.D797D	SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.D825D|SLC8A1_ENST00000406391.2_Silent_p.D797D|SLC8A1_ENST00000405901.3_Silent_p.D828D|SLC8A1_ENST00000405269.1_Silent_p.D797D|SLC8A1_ENST00000403092.1_Silent_p.D833D|SLC8A1_ENST00000402441.1_Silent_p.D797D|SLC8A1_ENST00000332839.4_Silent_p.D833D|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.D828D|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.D797D			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	833					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	CAGTCACAGAATCTTTCAGGC	0.483													8	31					0	0	0	0	G	40366587	A	G	40366587	2	3	338	1	0	0	0	0	0	0	0	1	14794	98	4	5		5	SLC8A1	2	40366587	Silent	SNP	A	TCGA-CV-A45Y-01A-11D-A25D-08	14868175	40366587	202832786	14	62934											
RANBP2	5903	broad.mit.edu	37	chr2	109383938	109383938	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtactttgaacctgttgttCctttacctgatctagttgaa	9	17	7	8	0	1	3	0	3	1	0	2	3	2	3	3	0	3	4	3	0	5	8			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:109383938C>G	ENST00000283195.6	+	20	7069	c.6943C>G	c.(6943-6945)Cct>Gct	p.P2315A		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2315	RanBD1 3.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACCTGTTGTTCCTTTACCTGA	0.398													6	192					0	0	0	0	G	109383938	C	G	109383938	3	3	338	1	0	0	0	0	1	0	0	0	13110	855	30	2	7021	2	RANBP2	2	109383938	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	69017351	109383938	133815435	15	62935											
TTC30B	150737	broad.mit.edu	37	chr2	178416956	178416956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcccgaggcctgcagggcgGcaaaaaacttggagcatgca	12	4	14	11	2	0	0	0	0	0	0	0	2	0	1	2	4	5	4	2	4	3	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:178416956G>A	ENST00000408939.2	-	1	786	c.536C>T	c.(535-537)gCc>gTc	p.A179V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	179				Missing (in Ref. 1; BAB70953).	cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTGCAGGGCGGCAAAAAACTT	0.542													5	136					0	0	0	0	A	178416956	G	A	178416956	3	1	338	1	0	0	0	0	1	0	0	0	16795	1203	42	4	1465	4	TTC30B	2	178416956	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	69033018	178416956	64782417	16	62936											
MARS2	92935	broad.mit.edu	37	chr2	198570695	198570695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacccagcagccgggcccatCgggggattcgtttcctgtat	6	9	12	14	3	0	0	0	0	0	0	3	1	1	1	4	3	2	3	4	3	1	3			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:198570695C>T	ENST00000282276.6	+	1	609	c.566C>T	c.(565-567)tCg>tTg	p.S189L	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	189					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CCGGGCCCATCGGGGGATTCG	0.577													10	88					0	0	0	0	T	198570695	C	T	198570695	3	4	338	1	0	0	0	0	1	0	0	0	9386	893	31	1	568	1	MARS2	2	198570695	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	20153739	198570695	44628678	17	62937											
ABCA12	26154	broad.mit.edu	37	chr2	215914477	215914477	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcatccacaatgtatcctGaatagctgtcacatagttct	12	13	5	11	0	3	1	2	1	1	0	5	1	5	1	2	0	1	3	2	0	5	4			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:215914477G>C	ENST00000272895.7	-	6	785	c.566C>G	c.(565-567)tCa>tGa	p.S189*		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	189					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AATGTATCCTGAATAGCTGTC	0.338													3	31					0	0	0	0	C	215914477	G	C	215914477	4	2	338	1	0	0	0	0	0	1	0	0	30	1294	45	2	7444	2	ABCA12	2	215914477	Nonsense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	17343782	215914477	27284896	18	62938											
C3orf58	205428	broad.mit.edu	37	chr3	143691330	143691330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccggcgcttcctgcagctCaataagtgcccggcgtgctt	6	9	12	14	4	1	0	1	0	0	0	2	1	2	0	3	2	4	4	3	2	2	3			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr3:143691330C>T	ENST00000315691.3	+	1	691	c.156C>T	c.(154-156)ctC>ctT	p.L52L		NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	52						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCTGCAGCTCAATAAGTGCC	0.677													3	37					0	0	0	0	T	143691330	C	T	143691330	2	4	338	1	0	0	0	0	0	0	0	1	2256	813	29	2		2	C3orf58	3	143691330	Silent	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08		143691330	54331100	19	62939											
SIAH2	6478	broad.mit.edu	37	chr3	150460339	150460339	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctcttgtgggcgtgcatGagatgggacatcacagcttc	8	11	13	9	1	2	1	1	1	1	1	3	3	2	2	0	2	3	3	0	2	0	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr3:150460339G>C	ENST00000312960.3	-	2	1091	c.564C>G	c.(562-564)ctC>ctG	p.L188L		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	188	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGGCGTGCATGAGATGGGACA	0.532													13	90					0	0	0	0	C	150460339	G	C	150460339	2	2	338	1	0	0	0	0	0	0	0	1	14388	1277	45	2		2	SIAH2	3	150460339	Silent	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	6769009	150460339	47562091	20	62940											
ZBBX	79740	broad.mit.edu	37	chr3	167068252	167068252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttagtgcccctttctggtGaactttagcaaagcatcctg	8	14	8	11	0	1	1	0	1	1	0	2	1	2	1	3	1	4	2	3	1	4	5			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr3:167068252G>A	ENST00000392766.2	-	9	824	c.484C>T	c.(484-486)Cac>Tac	p.H162Y	ZBBX_ENST00000392764.1_Missense_Mutation_p.H133Y|ZBBX_ENST00000392767.2_Missense_Mutation_p.H162Y|ZBBX_ENST00000455345.2_Missense_Mutation_p.H162Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.H162Y|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	162						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CCTTTCTGGTGAACTTTAGCA	0.308													8	145					0	0	0	0	A	167068252	G	A	167068252	3	1	338	1	0	0	0	0	1	0	0	0	17612	1290	45	2	1970	2	ZBBX	3	167068252	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	16607913	167068252	30954178	21	62941											
ATP10D	57205	broad.mit.edu	37	chr4	47537632	47537632	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcattgtggtttatgcaGgtcggttatgtttctaattt	6	19	12	4	1	1	0	0	0	1	0	2	0	1	0	0	4	1	5	0	4	3	7			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr4:47537632G>A	ENST00000273859.3	+	6	1152	c.883_splice	c.e6+1	p.G295_splice	ATP10D_ENST00000504445.1_Splice_Site_p.G295_splice	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	295					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GGTTTATGCAGGTCGGTTATG	0.373													4	67					0	0	0	0	A	47537632	G	A	47537632	5	1	338	1	0	0	0	0	0	0	1	0	1122	1014	35	4	901	4	ATP10D	4	47537632	Splice_Site	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08		47537632	143616644	22	62942											
UGT2B4	7363	broad.mit.edu	37	chr4	70361281	70361281	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaaaatgtgtcttttggaAgttctgcccatctcttaacc	10	14	6	11	0	3	0	0	0	3	0	4	1	3	1	3	1	2	1	3	1	4	4			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr4:70361281A>G	ENST00000305107.6	-	1	345	c.299T>C	c.(298-300)cTt>cCt	p.L100P	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.L100P	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	100					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GTCTTTTGGAAGTTCTGCCCA	0.323													4	27					0	0	0	0	G	70361281	A	G	70361281	3	3	338	1	0	0	0	0	1	0	0	0	17057	72	3	5	1311	5	UGT2B4	4	70361281	Missense_Mutation	SNP	A	TCGA-CV-A45Y-01A-11D-A25D-08	22823649	70361281	120792995	23	62943											
USP53	54532	broad.mit.edu	37	chr4	120190941	120190941	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaacttactttcttcaCaaaggaaagatttagagaag	19	10	7	5	0	2	3	1	0	1	3	2	5	2	4	0	1	2	0	0	1	7	5			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr4:120190941C>T	ENST00000450251.1	+	11	1928	c.1384C>T	c.(1384-1386)Caa>Taa	p.Q462*	USP53_ENST00000274030.6_Nonsense_Mutation_p.Q462*			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	462					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACTTTCTTCACAAAGGAAAGA	0.318													10	70					0	0	0	0	T	120190941	C	T	120190941	4	4	338	1	0	0	0	0	0	1	0	0	17180	479	17	4	1426	4	USP53	4	120190941	Nonsense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	49829660	120190941	70963335	24	62944											
SLC6A18	348932	broad.mit.edu	37	chr5	1242892	1242892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggacgactacccagccGtcctcatgcacctgaacgcc	9	5	9	18	3	1	1	1	1	0	0	2	3	2	2	6	1	4	1	6	1	2	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:1242892G>A	ENST00000324642.3	+	8	1168	c.1045G>A	c.(1045-1047)Gtc>Atc	p.V349I	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	349					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)			CTACCCAGCCGTCCTCATGCA	0.597													10	78					0	0	0	0	A	1242892	G	A	1242892	3	1	338	1	0	0	0	0	1	0	0	0	14769	1145	40	1	1075	1	SLC6A18	5	1242892	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08		1242892	179672368	25	62945											
ADCY2	108	broad.mit.edu	37	chr5	7789838	7789838	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagagaccatggagaacctGaaccgcgtgctgctggagaa	13	6	13	9	2	0	4	0	1	0	3	0	7	0	4	3	2	4	2	3	2	4	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:7789838G>C	ENST00000338316.4	+	20	2642	c.2553G>C	c.(2551-2553)ctG>ctC	p.L851L	ADCY2_ENST00000537121.1_Silent_p.L671L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	851					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGGAGAACCTGAACCGCGTGC	0.527													4	54					0	0	0	0	C	7789838	G	C	7789838	2	2	338	1	0	0	0	0	0	0	0	1	294	1277	45	2		2	ADCY2	5	7789838	Silent	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	6546946	7789838	173125422	26	62946											
HCN1	348980	broad.mit.edu	37	chr5	45267295	45267295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggaaagtgagtaaagaCgacaatatgtatcagctcga	16	7	10	8	3	1	2	1	1	0	1	2	5	1	3	1	1	1	3	1	1	6	3			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:45267295C>T	ENST00000303230.4	-	7	1736	c.1679G>A	c.(1678-1680)cGt>cAt	p.R560H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	560						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAGTAAAGACGACAATATGT	0.433													8	81					0	0	0	0	T	45267295	C	T	45267295	3	4	338	1	0	0	0	0	1	0	0	0	7046	536	19	1	1001	1	HCN1	5	45267295	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	37477457	45267295	135647965	27	62947											
SERINC5	256987	broad.mit.edu	37	chr5	79442049	79442049	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccttccccggctgctgctCttcagtgtctgtgaagcaca	5	12	9	15	1	3	1	1	1	2	0	5	1	5	1	3	1	3	4	3	1	1	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:79442049C>G	ENST00000507668.2	-	11	1252	c.1102G>C	c.(1102-1104)Gag>Cag	p.E368Q	SERINC5_ENST00000512972.2_Missense_Mutation_p.E368Q|SERINC5_ENST00000512721.1_Missense_Mutation_p.E368Q|SERINC5_ENST00000509193.1_Missense_Mutation_p.E366Q	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	368					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGCTGCTGCTCTTCAGTGTCT	0.512													9	173					0	0	0	0	G	79442049	C	G	79442049	3	3	338	1	0	0	0	0	1	0	0	0	14170	922	32	2	329	2	SERINC5	5	79442049	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	34174754	79442049	101473211	28	62948											
VCAN	1462	broad.mit.edu	37	chr5	82815483	82815483	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttggaaagctagacatatCagaaattaaggaagaagtgc	17	9	10	5	0	2	3	1	0	1	3	2	5	2	5	0	2	2	1	0	2	7	4			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:82815483C>G	ENST00000265077.3	+	7	1923	c.1358C>G	c.(1357-1359)tCa>tGa	p.S453*	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Nonsense_Mutation_p.S405*|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Nonsense_Mutation_p.S453*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	453	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTAGACATATCAGAAATTAAG	0.463													9	79					0	0	0	0	G	82815483	C	G	82815483	4	3	338	1	0	0	0	0	0	1	0	0	17234	838	29	2	1380	2	VCAN	5	82815483	Nonsense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	3373434	82815483	98099777	29	62949											
PCDHA5	56143	broad.mit.edu	37	chr5	140202600	140202600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacagcgccctggacCgcgagagcgtgtcggtctat	6	8	15	12	5	1	1	0	0	1	1	2	4	1	3	2	3	3	1	2	3	1	1	rs140742526		TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:140202600C>T	ENST00000529859.1	+	1	1240	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C	PCDHA5_ENST00000529619.1_Missense_Mutation_p.R414C|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R414C|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGGACCGCGAGAGCGT	0.642													7	203					0	0	0	0	T	140202600	C	T	140202600	3	4	338	1	0	0	0	0	1	0	0	0	11598	652	23	1	1242	1	PCDHA5	5	140202600	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	57387117	140202600	40712660	30	62950											
SLC36A1	206358	broad.mit.edu	37	chr5	150847313	150847313	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaataactgccacaacaatGagacggtgattctgacgcct	13	8	8	12	2	1	3	0	3	1	1	1	4	1	3	3	1	3	0	3	1	4	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:150847313G>C	ENST00000243389.3	+	7	773	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	SLC36A1_ENST00000521925.1_Missense_Mutation_p.E184Q|SLC36A1_ENST00000520701.1_Missense_Mutation_p.E184Q|SLC36A1_ENST00000429484.2_Missense_Mutation_p.E184Q	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	184					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CCACAACAATGAGACGGTGAT	0.532													6	97					0	0	0	0	C	150847313	G	C	150847313	3	2	338	1	0	0	0	0	1	0	0	0	14681	1291	45	2	572	2	SLC36A1	5	150847313	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	10644713	150847313	30067947	31	62951											
DHX16	8449	broad.mit.edu	37	chr6	30622988	30622988	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtccccctggcaggaactGagaccaacttccacacgttc	10	8	8	15	1	0	1	0	1	0	1	3	3	2	2	4	2	2	2	4	2	3	3			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:30622988G>C	ENST00000376442.3	-	18	2982	c.2787C>G	c.(2785-2787)ctC>ctG	p.L929L	DHX16_ENST00000376437.5_Silent_p.L448L	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	929					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GGCAGGAACTGAGACCAACTT	0.557													5	97					0	0	0	0	C	30622988	G	C	30622988	2	2	338	1	0	0	0	0	0	0	0	1	4539	1277	45	2		2	DHX16	6	30622988	Silent	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08		30622988	140492079	32	62952											
FRS3	10817	broad.mit.edu	37	chr6	41738930	41738930	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcccggctcctctgggctCagtctccagccagcccctcg	4	7	10	20	2	3	0	1	0	2	0	6	0	4	0	6	2	3	2	6	2	0	0			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:41738930C>G	ENST00000373018.3	-	7	1157	c.906G>C	c.(904-906)ctG>ctC	p.L302L	FRS3_ENST00000259748.2_Silent_p.L302L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	302					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTCTGGGCTCAGTCTCCAGC	0.647													3	36					0	0	0	0	G	41738930	C	G	41738930	2	3	338	1	0	0	0	0	0	0	0	1	6110	813	29	2		2	FRS3	6	41738930	Silent	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	11115942	41738930	129376137	33	62953											
DST	667	broad.mit.edu	37	chr6	56418442	56418442	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggccgactgaaggtgctGgacatgattctctagaaata	13	9	11	8	1	1	3	0	2	1	1	2	5	1	4	1	3	1	1	1	3	4	3			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:56418442G>A	ENST00000370754.5	-	61	15054	c.15055C>T	c.(15055-15057)Cag>Tag	p.Q5019*	DST_ENST00000361203.3_Nonsense_Mutation_p.Q4839*|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Nonsense_Mutation_p.Q4515*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q2753*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q2753*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q4841*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q2427*			Q03001	DYST_HUMAN	dystonin	4839					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAAGGTGCTGGACATGATTC	0.323													5	55					0	0	0	0	A	56418442	G	A	56418442	4	1	338	1	0	0	0	0	0	1	0	0	4819	1357	47	4	8408	4	DST	6	56418442	Nonsense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	14679512	56418442	114696625	34	62954											
ZNF451	26036	broad.mit.edu	37	chr6	57006251	57006251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatcagagtttcaaactggGtggtatgttaatactctctt	10	15	8	8	0	3	1	2	0	1	1	4	1	3	1	1	2	2	3	1	2	4	5			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:57006251G>A	ENST00000370706.4	+	8	1098	c.854G>A	c.(853-855)gGt>gAt	p.G285D	RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.G285D|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.G285D|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTCAAACTGGGTGGTATGTTA	0.348													9	30					0	0	0	0	A	57006251	G	A	57006251	3	1	338	1	0	0	0	0	1	0	0	0	18017	1261	44	4	884	4	ZNF451	6	57006251	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	587809	57006251	114108816	35	62955											
VTA1	51534	broad.mit.edu	37	chr6	142519629	142519629	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgcccactcagccaactCagccatcatcatcttcaact	10	10	3	18	0	7	0	5	0	2	0	7	0	7	0	3	0	5	0	3	0	2	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:142519629C>G	ENST00000367630.4	+	6	632	c.574C>G	c.(574-576)Cag>Gag	p.Q192E	VTA1_ENST00000452973.2_Missense_Mutation_p.Q134E|VTA1_ENST00000367621.1_Missense_Mutation_p.Q134E|VTA1_ENST00000491881.1_3'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	192					cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TCAGCCAACTCAGCCATCATC	0.438													5	46					0	0	0	0	G	142519629	C	G	142519629	3	3	338	1	0	0	0	0	1	0	0	0	17329	827	29	2	596	2	VTA1	6	142519629	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	85513378	142519629	28595438	36	62956											
SMURF1	57154	broad.mit.edu	37	chr7	98636133	98636133	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgtggtccagtacaggCgtgatgtcgttctctctgtt	6	14	13	8	2	2	1	0	1	2	0	5	1	3	1	1	3	1	3	1	3	2	3			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr7:98636133C>A	ENST00000361125.1	-	15	1963	c.1644G>T	c.(1642-1644)acG>acT	p.T548T	SMURF1_ENST00000361368.2_Silent_p.T522T|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	548	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CCAGTACAGGCGTGATGTCGT	0.522													3	39					0.004672	0.00485169	1	0	A	98636133	C	A	98636133	2	1	338	1	0	0	0	0	0	0	0	1	14907	755	27	3		3	SMURF1	7	98636133	Silent	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08		98636133	60502530	37	62957											
RP1L1	94137	broad.mit.edu	37	chr8	10465188	10465188	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgactcaggctgggcCtccccttcagcctctggggc	3	10	11	17	0	4	1	2	1	2	0	5	1	5	1	5	4	1	1	5	4	0	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:10465188C>T	ENST00000382483.3	-	4	6643	c.6420G>A	c.(6418-6420)gaG>gaA	p.E2140E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2140					intracellular signal transduction					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)		CAGGCTGGGCCTCCCCTTCAG	0.622													18	219					0	0	0	0	T	10465188	C	T	10465188	2	4	338	1	0	0	0	0	0	0	0	1	13618	680	24	4		4	RP1L1	8	10465188	Silent	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08		10465188	135898834	38	62958											
DLC1	10395	broad.mit.edu	37	chr8	13357060	13357060	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccccactttcttttaccAgtgctaattcagtttcacca	8	16	3	14	0	4	0	2	0	2	0	5	0	4	0	4	0	2	2	4	0	2	6			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:13357060A>T	ENST00000276297.4	-	2	930	c.521T>A	c.(520-522)cTg>cAg	p.L174Q	DLC1_ENST00000511869.1_Missense_Mutation_p.L174Q|DLC1_ENST00000316609.5_Missense_Mutation_p.L174Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	174					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTCTTTTACCAGTGCTAATTC	0.403													8	155					0	0	0	0	T	13357060	A	T	13357060	3	4	338	1	0	0	0	0	1	0	0	0	4587	188	7	5	4218	5	DLC1	8	13357060	Missense_Mutation	SNP	A	TCGA-CV-A45Y-01A-11D-A25D-08	2891872	13357060	133006962	39	62959											
ADAM18	8749	broad.mit.edu	37	chr8	39442835	39442835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtcacagttccacggaaGattaagtcaaatgacagtga	15	9	9	8	1	2	3	2	2	0	1	3	4	3	4	1	1	0	1	1	1	3	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:39442835G>T	ENST00000265707.5	+	2	141	c.96G>T	c.(94-96)aaG>aaT	p.K32N	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000520772.1_Missense_Mutation_p.K32N|ADAM18_ENST00000379866.1_Missense_Mutation_p.K32N	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	32					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTCCACGGAAGATTAAGTCAA	0.328													5	45					1.23904e-05	1.36547e-05	1	0	T	39442835	G	T	39442835	3	4	338	1	0	0	0	0	1	0	0	0	239	933	33	2	102	2	ADAM18	8	39442835	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	26085775	39442835	106921187	40	62960											
LRRCC1	85444	broad.mit.edu	37	chr8	86050673	86050673	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaaacaaggaaaagaaaCttaaagcggaaagagacaaa	24	4	9	4	1	0	3	0	1	0	2	0	6	0	5	0	2	3	0	0	2	10	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:86050673C>G	ENST00000414626.2	+	16	3632	c.2743C>G	c.(2743-2745)Ctt>Gtt	p.L915V	LRRCC1_ENST00000360375.3_Missense_Mutation_p.L935V			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	935					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GGAAAAGAAACTTAAAGCGGA	0.338													5	65					0	0	0	0	G	86050673	C	G	86050673	3	3	338	1	0	0	0	0	1	0	0	0	9090	565	20	4	2869	4	LRRCC1	8	86050673	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	46607838	86050673	60313349	41	62961											
ZFPM2	23414	broad.mit.edu	37	chr8	106815541	106815541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaccacaaatctccctcGtggatctctgagaacccatt	11	9	7	14	2	2	1	0	1	2	1	5	5	2	2	3	1	1	0	3	1	2	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:106815541G>A	ENST00000407775.2	+	8	3481	c.3231G>A	c.(3229-3231)tcG>tcA	p.S1077S	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.S945S|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.S808S|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Silent_p.S945S|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1077					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.S1077S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AATCTCCCTCGTGGATCTCTG	0.478													4	43					0	0	0	0	A	106815541	G	A	106815541	2	1	338	1	0	0	0	0	0	0	0	1	17753	1132	40	1		1	ZFPM2	8	106815541	Silent	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	20764868	106815541	39548481	42	62962											
CSMD3	114788	broad.mit.edu	37	chr8	113331129	113331129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatctgcacgtcagaattgCattaccaactaaagtaaatc	16	11	5	9	1	2	1	1	0	1	1	3	1	2	1	1	0	4	3	1	0	8	5			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:113331129C>T	ENST00000297405.5	-	47	7541	c.7297G>A	c.(7297-7299)Gca>Aca	p.A2433T	CSMD3_ENST00000455883.2_Missense_Mutation_p.A2329T|CSMD3_ENST00000352409.3_Missense_Mutation_p.A2363T|CSMD3_ENST00000343508.3_Missense_Mutation_p.A2393T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2433	Sushi 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCAGAATTGCATTACCAACT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	57					0	0	0	0	T	113331129	C	T	113331129	3	4	338	1	0	0	0	0	1	0	0	0	3978	710	25	4	3926	4	CSMD3	8	113331129	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	6515588	113331129	33032893	43	62963											
LRRC24	441381	broad.mit.edu	37	chr8	145749502	145749502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaggtacctgtgaggCgcaggacttgcagactggcc	10	6	16	9	1	0	3	0	1	0	2	0	5	0	5	2	5	2	3	2	5	2	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:145749502C>T	ENST00000529415.2	-	4	716	c.599G>A	c.(598-600)cGc>cAc	p.R200H	LRRC24_ENST00000533758.1_Missense_Mutation_p.R197H|LRRC14_ENST00000528528.1_Intron|LRRC14_ENST00000292524.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	200						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACCTGTGAGGCGCAGGACTTG	0.642													16	160					0	0	0	0	T	145749502	C	T	145749502	3	4	338	1	0	0	0	0	1	0	0	0	9043	768	27	1	950	1	LRRC24	8	145749502	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	32418373	145749502	614520	44	62964											
ABCA1	19	broad.mit.edu	37	chr9	107556779	107556779	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacttcaggatatcattgaTattattcagcttctaaaaaa	15	14	6	6	0	4	1	3	1	1	0	4	3	4	3	0	2	1	1	0	2	6	8			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr9:107556779T>C	ENST00000374736.3	-	40	5789	c.5395A>G	c.(5395-5397)Atc>Gtc	p.I1799V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1799					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATATCATTGATATTATTCAGC	0.418													4	39					0	0	0	0	C	107556779	T	C	107556779	3	2	338	1	0	0	0	0	1	0	0	0	28	1406	49	5	1434	5	ABCA1	9	107556779	Missense_Mutation	SNP	T	TCGA-CV-A45Y-01A-11D-A25D-08		107556779	33656652	45	62965											
ZFP37	7539	broad.mit.edu	37	chr9	115806449	115806449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaaccacagtcactgccaTtcttcttagcttgagttttc	8	15	7	11	0	3	2	1	2	2	0	4	2	3	2	2	0	3	2	2	0	2	6			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr9:115806449T>C	ENST00000374227.3	-	4	476	c.449A>G	c.(448-450)aAt>aGt	p.N150S	ZFP37_ENST00000553380.1_Missense_Mutation_p.N165S|ZFP37_ENST00000555206.1_Missense_Mutation_p.N151S			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	150						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTCACTGCCATTCTTCTTAGC	0.358													10	81					0	0	0	0	C	115806449	T	C	115806449	3	2	338	1	0	0	0	0	1	0	0	0	17743	1493	52	5	1447	5	ZFP37	9	115806449	Missense_Mutation	SNP	T	TCGA-CV-A45Y-01A-11D-A25D-08	8249670	115806449	25406982	46	62966											
CRB2	286204	broad.mit.edu	37	chr9	126132531	126132531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtgcagctcactggctGccagggccacacctgcccgc	5	8	11	17	1	2	0	1	0	1	0	2	0	2	0	4	2	4	3	4	2	0	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr9:126132531G>T	ENST00000373631.3	+	7	1200	c.1199G>T	c.(1198-1200)tGc>tTc	p.C400F	CRB2_ENST00000359999.3_Missense_Mutation_p.C400F|CRB2_ENST00000373629.2_Missense_Mutation_p.C68F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	400	EGF-like 9.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTCACTGGCTGCCAGGGCCAC	0.642													4	40					1	1	1	0	T	126132531	G	T	126132531	3	4	338	1	0	0	0	0	1	0	0	0	3879	1319	46	4	1225	4	CRB2	9	126132531	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	10326082	126132531	15080900	47	62967											
GATA3	2625	broad.mit.edu	37	chr10	8115926	8115926	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcccacgccgatgcacccGccatccagcctgtcctttgg	6	7	9	19	4	0	0	0	0	0	0	2	1	2	0	7	1	2	1	7	1	0	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr10:8115926G>C	ENST00000379328.3	+	6	1843	c.1275G>C	c.(1273-1275)ccG>ccC	p.P425P	GATA3_ENST00000346208.3_Silent_p.P424P|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	424				P -> A (in Ref. 4; AAA35870).	aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.S427fs*21(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGATGCACCCGCCATCCAGCC	0.652			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						11	67					0	0	0	0	C	8115926	G	C	8115926	2	2	338	1	0	0	0	0	0	0	0	1	6304	1074	38	3		3	GATA3	10	8115926	Silent	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08		8115926	127418821	48	62968											
ST8SIA6	338596	broad.mit.edu	37	chr10	17363155	17363155	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttctccagaaaagggccaGatctttcaggtacttgggat	11	11	11	8	0	3	2	1	0	2	2	4	3	3	3	2	3	1	2	2	3	3	4			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr10:17363155G>C	ENST00000377602.4	-	8	993	c.919C>G	c.(919-921)Ctg>Gtg	p.L307V		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	307					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AAAAGGGCCAGATCTTTCAGG	0.453													12	250					0	0	0	0	C	17363155	G	C	17363155	3	2	338	1	0	0	0	0	1	0	0	0	15326	933	33	2	281	2	ST8SIA6	10	17363155	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	9247229	17363155	118171592	49	62969											
HBD	3045	broad.mit.edu	37	chr11	5254314	5254314	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacacacaccagcacattGcccaagagctgcggagaaga	15	3	10	13	1	0	3	0	0	0	3	0	4	0	3	2	1	5	3	2	1	2	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr11:5254314G>T	ENST00000380299.3	-	3	538	c.324C>A	c.(322-324)ggC>ggA	p.G108G	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	108					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCACATTGCCCAAGAGCT	0.502													4	46					0.00909568	0.00935556	1	0	T	5254314	G	T	5254314	2	4	338	1	0	0	0	0	0	0	0	1	7029	1306	46	4		4	HBD	11	5254314	Silent	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08		5254314	129752202	50	62970											
AHNAK	79026	broad.mit.edu	37	chr11	62293766	62293766	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttaagtcaatatcaggcatgGagatcttgggggctttgata	11	13	12	5	0	3	2	2	1	1	1	3	3	3	2	0	4	0	2	0	4	4	5			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr11:62293766G>C	ENST00000378024.4	-	5	8397	c.8123C>G	c.(8122-8124)tCc>tGc	p.S2708C	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2708					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCAGGCATGGAGATCTTGGG	0.463													7	204					0	0	0	0	C	62293766	G	C	62293766	3	2	338	1	0	0	0	0	1	0	0	0	414	1174	41	2	9669	2	AHNAK	11	62293766	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	57039452	62293766	72712750	51	62971											
HYOU1	10525	broad.mit.edu	37	chr11	118925381	118925381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatcactgcatccttgatgGgctgctctacagatgacaac	10	11	9	11	0	2	4	1	3	1	1	3	4	3	4	1	1	4	3	1	1	2	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr11:118925381G>A	ENST00000404233.3	-	7	627	c.503C>T	c.(502-504)cCc>cTc	p.P168L	HYOU1_ENST00000543287.1_Missense_Mutation_p.P81L|HYOU1_ENST00000525859.1_Missense_Mutation_p.P168L|HYOU1_ENST00000529972.1_Missense_Mutation_p.P168L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	168						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ATCCTTGATGGGCTGCTCTAC	0.537													6	32					0	0	0	0	A	118925381	G	A	118925381	3	1	338	1	0	0	0	0	1	0	0	0	7523	1232	43	4	2576	4	HYOU1	11	118925381	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	56631615	118925381	16081135	52	62972											
ABCG4	64137	broad.mit.edu	37	chr11	119025526	119025526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgtcgtgctcccacaCgaggacagccctgctctctg	6	9	10	16	2	1	1	0	1	1	0	4	3	2	2	3	1	3	2	3	1	0	0	rs151176056	byFrequency	TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr11:119025526C>T	ENST00000307417.3	+	6	951	c.587C>T	c.(586-588)aCg>aTg	p.T196M	ABCG4_ENST00000449422.2_Missense_Mutation_p.T196M|ABCG4_ENST00000531739.1_Missense_Mutation_p.T196M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	196	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGCTCCCACACGAGGACAGCC	0.642													5	124					0	0	0	0	T	119025526	C	T	119025526	3	4	338	1	0	0	0	0	1	0	0	0	70	536	19	1	605	1	ABCG4	11	119025526	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	100145	119025526	15980990	53	62973											
ERP27	121506	broad.mit.edu	37	chr12	15068572	15068572	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttagtttgaaaaatgataTcaccttcccattttctttca	11	18	3	9	0	3	2	2	2	1	0	4	2	4	2	2	0	0	1	2	0	4	8			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:15068572T>A	ENST00000266397.2	-	6	1198	c.625A>T	c.(625-627)Ata>Tta	p.I209L	ERP27_ENST00000540097.1_Missense_Mutation_p.I108L	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	209						endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						AAAAATGATATCACCTTCCCA	0.433													9	46					0	0	0	0	A	15068572	T	A	15068572	3	1	338	1	0	0	0	0	1	0	0	0	5279	1435	50	5	204	5	ERP27	12	15068572	Missense_Mutation	SNP	T	TCGA-CV-A45Y-01A-11D-A25D-08		15068572	118783323	54	62974											
RERG	85004	broad.mit.edu	37	chr12	15262141	15262141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaccatcctccggcgaCgcacctctcgacacaattca	9	7	6	19	4	2	0	1	0	1	0	5	2	4	0	5	1	1	2	5	1	1	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:15262141C>T	ENST00000256953.2	-	5	839	c.503G>A	c.(502-504)cGt>cAt	p.R168H	RERG_ENST00000546331.1_Missense_Mutation_p.R149H|RERG_ENST00000536465.1_Missense_Mutation_p.R168H|RERG_ENST00000538313.1_Missense_Mutation_p.R168H	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	168	Poly-Arg.				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CCTCCGGCGACGCACCTCTCG	0.517													21	119					0	0	0	0	T	15262141	C	T	15262141	3	4	338	1	0	0	0	0	1	0	0	0	13314	536	19	1	100	1	RERG	12	15262141	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	193569	15262141	118589754	55	62975											
ITPR2	3709	broad.mit.edu	37	chr12	26809443	26809443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttatggccagatactggCgatccaagcacatccttgca	10	10	10	11	1	0	1	0	0	0	1	2	2	2	1	3	3	3	3	3	3	3	4			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:26809443C>A	ENST00000381340.3	-	19	2647	c.2231G>T	c.(2230-2232)cGc>cTc	p.R744L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	744					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGATACTGGCGATCCAAGCA	0.453													5	45					0.014758	0.0150364	1	0	A	26809443	C	A	26809443	3	1	338	1	0	0	0	0	1	0	0	0	7974	768	27	3	6030	3	ITPR2	12	26809443	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	11547302	26809443	107042452	56	62976											
KRT73	319101	broad.mit.edu	37	chr12	53004410	53004410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacccacctgcactcctcGccctccagcagcttgcggta	6	7	7	21	2	0	0	0	0	0	0	3	0	2	0	6	1	4	4	6	1	1	2	rs149745115	byFrequency	TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:53004410G>A	ENST00000305748.3	-	7	1354	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	440	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCACTCCTCGCCCTCCAGCA	0.617													4	50					0	0	0	0	A	53004410	G	A	53004410	2	1	338	1	0	0	0	0	0	0	0	1	8538	1074	38	1		1	KRT73	12	53004410	Silent	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	26194967	53004410	80847485	57	62977											
GLS2	27165	broad.mit.edu	37	chr12	56868436	56868436	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgcctgtgatggggcaGatcccaccgttggcgagggt	5	9	15	12	3	1	2	0	1	1	1	3	3	2	2	3	4	0	2	3	4	0	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:56868436G>T	ENST00000311966.4	-	12	1394	c.1116C>A	c.(1114-1116)atC>atA	p.I372I	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	372					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGATGGGGCAGATCCCACCGT	0.537													5	128					0.0215528	0.0217542	1	0	T	56868436	G	T	56868436	2	4	338	1	0	0	0	0	0	0	0	1	6515	932	33	2		2	GLS2	12	56868436	Silent	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	3864026	56868436	76983459	58	62978											
SSH1	54434	broad.mit.edu	37	chr12	109181855	109181855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctgggtccctcggggttCcctggggctcatgcaagaag	6	8	15	12	1	1	1	1	0	0	1	4	1	3	1	2	5	2	4	2	5	2	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:109181855C>T	ENST00000326495.5	-	15	3152	c.3059G>A	c.(3058-3060)gGa>gAa	p.G1020E	SSH1_ENST00000360239.3_Missense_Mutation_p.G708E	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1020	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTCGGGGTTCCCTGGGGCTC	0.567													11	133					0	0	0	0	T	109181855	C	T	109181855	3	4	338	1	0	0	0	0	1	0	0	0	15274	855	30	2	94	2	SSH1	12	109181855	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	52313419	109181855	24670040	59	62979			1	96		2	2	29	C		7.95918e-05
SSH1	54434	broad.mit.edu	37	chr12	109181883	109181883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatgcaagaaggaagattCactcaaagtggtgtcctggg	12	9	12	8	0	3	2	3	0	0	2	4	3	4	3	1	3	1	1	1	3	4	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:109181883C>T	ENST00000326495.5	-	15	3124	c.3031G>A	c.(3031-3033)Gaa>Aaa	p.E1011K	SSH1_ENST00000360239.3_Missense_Mutation_p.E699K	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1011	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGGAAGATTCACTCAAAGTG	0.577													10	172					0	0	0	0	T	109181883	C	T	109181883	3	4	338	1	0	0	0	0	1	0	0	0	15274	835	29	2	122	2	SSH1	12	109181883	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	28	109181883	24670012	60	62980			1	96		2	2	29	C		7.95918e-05
C12orf52	84934	broad.mit.edu	37	chr12	113629196	113629196	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccagcttcggggccccgcgGatggcgaagggggatgccgc	5	4	19	13	5	0	0	0	0	0	0	1	3	0	2	4	6	2	1	4	6	1	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:113629196G>A	ENST00000548278.1	+	4	1076	c.384G>A	c.(382-384)cgG>cgA	p.R128R	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Silent_p.R152R|C12orf52_ENST00000549621.1_Silent_p.R128R	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	128	Interaction with RBPJ/RBPSUH.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GGGCCCCGCGGATGGCGAAGG	0.642													3	38					0	0	0	0	A	113629196	G	A	113629196	2	1	338	1	0	0	0	0	0	0	0	1	1709	1161	41	2		2	C12orf52	12	113629196	Silent	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	4447313	113629196	20222699	61	62981											
TEP1	7011	broad.mit.edu	37	chr14	20841840	20841840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgacgttttgttacctgCacggggctccatggcagctg	5	11	14	11	2	0	1	0	1	0	0	1	1	1	1	2	4	3	7	2	4	1	3			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr14:20841840C>T	ENST00000262715.5	-	45	6641	c.6601G>A	c.(6601-6603)Gca>Aca	p.A2201T	TEP1_ENST00000556935.1_Missense_Mutation_p.A2093T|TEP1_ENST00000545983.1_Missense_Mutation_p.A539T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2201					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTGTTACCTGCACGGGGCTCC	0.567													3	40					0	0	0	0	T	20841840	C	T	20841840	3	4	338	1	0	0	0	0	1	0	0	0	15853	710	25	4	1326	4	TEP1	14	20841840	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08		20841840	86507700	62	62982											
MYH7	4625	broad.mit.edu	37	chr14	23887443	23887443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcgagctcctcagtcCgctgaatggcgtccgtctca	5	10	9	17	4	2	1	2	1	1	0	8	2	6	1	5	1	1	2	5	1	1	0			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr14:23887443C>A	ENST00000355349.3	-	30	4307	c.4145G>T	c.(4144-4146)cGg>cTg	p.R1382L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1382			R -> W (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		CTCCTCAGTCCGCTGAATGGC	0.637													12	79					0.00010058	0.000109724	1	0	A	23887443	C	A	23887443	3	1	338	1	0	0	0	0	1	0	0	0	10109	652	23	3	1706	3	MYH7	14	23887443	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	3045603	23887443	83462097	63	62983											
MYH7	4625	broad.mit.edu	37	chr14	23898464	23898464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattctgccccttggtgaCgtactcattgcccactttca	7	13	7	14	1	3	1	2	1	1	0	3	2	3	1	3	1	3	1	3	1	1	5			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr14:23898464C>T	ENST00000355349.3	-	13	1393	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	411	Myosin head-like.		V -> I (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		CCCTTGGTGACGTACTCATTG	0.567													8	122					0	0	0	0	T	23898464	C	T	23898464	3	4	338	1	0	0	0	0	1	0	0	0	10109	536	19	1	4688	1	MYH7	14	23898464	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	11021	23898464	83451076	64	62984											
SIX6	4990	broad.mit.edu	37	chr14	60976389	60976389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaagctgcaggcgctgtgGcttgaagcacactaccagga	10	6	13	12	1	0	1	0	1	0	0	0	2	0	2	2	3	4	5	2	3	3	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr14:60976389G>T	ENST00000327720.5	+	1	721	c.273G>T	c.(271-273)tgG>tgT	p.W91C		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	91					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		AGGCGCTGTGGCTTGAAGCAC	0.582													3	37					0.004672	0.00485169	1	0	T	60976389	G	T	60976389	3	4	338	1	0	0	0	0	1	0	0	0	14439	1212	42	4	275	4	SIX6	14	60976389	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	37077925	60976389	46373151	65	62985											
GREM1	26585	broad.mit.edu	37	chr15	33023039	33023039	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcagagcagactcagtcgCcccagcagcctggctccagg	9	5	11	16	1	2	2	2	0	0	2	4	2	3	2	4	2	3	3	4	2	0	0			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr15:33023039C>G	ENST00000300177.4	+	2	337	c.148C>G	c.(148-150)Ccc>Gcc	p.P50A	GREM1_ENST00000560677.1_Intron|GREM1_ENST00000322805.4_Intron|GREM1_ENST00000560830.1_Intron	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	50					negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GACTCAGTCGCCCCAGCAGCC	0.672													9	41					0	0	0	0	G	33023039	C	G	33023039	3	3	338	1	0	0	0	0	1	0	0	0	6811	739	26	4	150	4	GREM1	15	33023039	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08		33023039	69508353	66	62986											
MLST8	64223	broad.mit.edu	37	chr16	2257314	2257314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtccgcccacatcgatcccGacgccagctacatggcagct	8	6	9	18	5	0	0	0	0	0	0	3	2	2	0	4	1	3	3	4	1	1	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr16:2257314G>A	ENST00000569417.1	+	6	895	c.541G>A	c.(541-543)Gac>Aac	p.D181N	MLST8_ENST00000301725.7_Missense_Mutation_p.D200N|MLST8_ENST00000382450.4_Missense_Mutation_p.D180N|MLST8_ENST00000397124.1_Missense_Mutation_p.D181N|MLST8_ENST00000564088.1_Missense_Mutation_p.D181N|MLST8_ENST00000565250.1_Missense_Mutation_p.D181N|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301724.10_Missense_Mutation_p.D181N	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	181					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CATCGATCCCGACGCCAGCTA	0.627													12	121					0	0	0	0	A	2257314	G	A	2257314	3	1	338	1	0	0	0	0	1	0	0	0	9703	1058	37	1	559	1	MLST8	16	2257314	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08		2257314	88097439	67	62987											
CLUAP1	23059	broad.mit.edu	37	chr16	3586202	3586202	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagacgagagcatttctctCtcaccaaccaagcccaatcg	13	7	7	14	2	2	2	1	0	2	2	5	4	2	2	3	0	3	1	3	0	4	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr16:3586202C>G	ENST00000576634.1	+	12	1317	c.1173C>G	c.(1171-1173)ctC>ctG	p.L391L	CLUAP1_ENST00000417763.2_Silent_p.L225L|CLUAP1_ENST00000445795.2_Silent_p.L169L|CLUAP1_ENST00000572600.1_Silent_p.L225L|CLUAP1_ENST00000341633.5_Silent_p.L410L|CLUAP1_ENST00000571025.1_3'UTR	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	391						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						GCATTTCTCTCTCACCAACCA	0.478													5	54					0	0	0	0	G	3586202	C	G	3586202	2	3	338	1	0	0	0	0	0	0	0	1	3599	900	32	2		2	CLUAP1	16	3586202	Silent	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	1328888	3586202	86768551	68	62988											
GLOD4	51031	broad.mit.edu	37	chr17	679061	679061	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatagaacttatatcctccCggggcctcggtttcaaaaac	13	10	7	11	2	1	1	1	0	0	1	4	1	3	1	3	3	2	1	3	3	7	4			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:679061C>T	ENST00000301329.6	-	4	445	c.360G>A	c.(358-360)ccG>ccA	p.P120P	GLOD4_ENST00000301328.5_Silent_p.P135P|GLOD4_ENST00000536578.1_Silent_p.P111P	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	135						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TATATCCTCCCGGGGCCTCGG	0.502													7	86					0	0	0	0	T	679061	C	T	679061	2	4	338	1	0	0	0	0	0	0	0	1	6501	639	23	1		1	GLOD4	17	679061	Silent	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08		679061	80516149	69	62989											
PRPF8	10594	broad.mit.edu	37	chr17	1582344	1582344	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttcacaggcttgaggttGaagttgtagtccaggtgcag	8	13	14	6	0	1	2	1	2	0	0	2	2	2	2	1	3	1	6	1	3	2	6			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:1582344G>A	ENST00000572621.1	-	10	1831	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	PRPF8_ENST00000304992.6_Silent_p.F522F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	522						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTTGAGGTTGAAGTTGTAGT	0.547													7	122					0	0	0	0	A	1582344	G	A	1582344	2	1	338	1	0	0	0	0	0	0	0	1	12655	1281	45	2		2	PRPF8	17	1582344	Silent	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	903283	1582344	79612866	70	62990											
TP53	7157	broad.mit.edu	37	chr17	7578397	7578398	+	Frame_Shift_Ins	INS	-	-	G																															atctgagcagcgctcatggtINSgggggcagcgcctcacaacc																								rs68130327		TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:7578397_7578398insG	ENST00000420246.2	-	5	664_665	c.532_533insC	c.(532-534)ccafs	p.P178fs	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P178fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	178	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178P(6)|p.H178fs*3(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCTCATGGTGGGGGCAGCGC	0.644		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	61	---	---	---	---					G	7578398	-	G	7578397	7	5	338	1	0	1	1	0	0	0	0	0	16476	1696	59	0	765	0	TP53	17	7578397	Frame_Shift_Ins	INS	-	TCGA-CV-A45Y-01A-11D-A25D-08	5996053	7578397	73616813	71	62991											
SLFN5	162394	broad.mit.edu	37	chr17	33592888	33592888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaaaaagacatctgtataTtctgaaggcttctgtgtgac	12	12	10	7	0	3	3	0	2	3	1	3	3	3	3	0	2	0	3	0	2	5	4			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:33592888T>C	ENST00000299977.4	+	5	2805	c.2657T>C	c.(2656-2658)aTt>aCt	p.I886T	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	886					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CATCTGTATATTCTGAAGGCT	0.423													9	57					0	0	0	0	C	33592888	T	C	33592888	3	2	338	1	0	0	0	0	1	0	0	0	14825	1493	52	5	2671	5	SLFN5	17	33592888	Missense_Mutation	SNP	T	TCGA-CV-A45Y-01A-11D-A25D-08	26014491	33592888	47602322	72	62992											
KRT40	125115	broad.mit.edu	37	chr17	39137270	39137270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaccattcttcagcttctCtgcgattgttggcaagcacc	8	12	7	14	1	3	0	1	0	2	0	4	1	3	0	3	1	4	4	3	1	2	5			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:39137270C>G	ENST00000377755.4	-	4	855	c.821G>C	c.(820-822)aGa>aCa	p.R274T	KRT40_ENST00000398486.2_Missense_Mutation_p.R274T			Q6A162	K1C40_HUMAN	keratin 40	274	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TTCAGCTTCTCTGCGATTGTT	0.502													9	192					0	0	0	0	G	39137270	C	G	39137270	3	3	338	1	0	0	0	0	1	0	0	0	8530	913	32	2	490	2	KRT40	17	39137270	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	5544382	39137270	42057940	73	62993											
DSC1	1823	broad.mit.edu	37	chr18	28737387	28737387	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttgttgttcccgtctctGaccatctgaaaggaaaatgg	9	13	9	10	1	3	2	0	2	3	0	5	3	4	3	2	2	0	2	2	2	3	3			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr18:28737387G>C	ENST00000257197.3	-	3	559	c.298C>G	c.(298-300)Cag>Gag	p.Q100E	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.Q100E	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	100					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)			TCCCGTCTCTGACCATCTGAA	0.408													3	35					0	0	0	0	C	28737387	G	C	28737387	3	2	338	1	0	0	0	0	1	0	0	0	4801	1299	45	2	2482	2	DSC1	18	28737387	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08		28737387	49339861	74	62994											
WDR83	84292	broad.mit.edu	37	chr19	12780853	12780853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagctgtggaacccgcttCgggggacgctgctgcggacg	6	7	17	11	5	0	1	0	1	0	0	1	4	0	4	1	4	4	4	1	4	2	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr19:12780853C>T	ENST00000418543.3	+	4	515	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	WDR83_ENST00000242796.4_Missense_Mutation_p.R56W|WDR83OS_ENST00000596731.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	56					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						GAACCCGCTTCGGGGGACGCT	0.677													5	91					0	0	0	0	T	12780853	C	T	12780853	3	4	338	1	0	0	0	0	1	0	0	0	17428	875	31	1	172	1	WDR83	19	12780853	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08		12780853	46348130	75	62995											
ZNF257	113835	broad.mit.edu	37	chr19	22270924	22270924	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtgtggatgagtgtaaGgtgtgcaaaggaggttataa	15	10	15	1	0	0	1	0	1	0	0	0	3	0	3	0	4	1	3	0	4	6	3			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr19:22270924G>C	ENST00000594947.1	+	4	516	c.372G>C	c.(370-372)aaG>aaC	p.K124N	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGAGTGTAAGGTGTGCAAAG	0.308													8	40					0	0	0	0	C	22270924	G	C	22270924	3	2	338	1	0	0	0	0	1	0	0	0	17895	991	35	4	386	4	ZNF257	19	22270924	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	9490071	22270924	36858059	76	62996											
CAPNS1	826	broad.mit.edu	37	chr19	36633596	36633596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattgaggccaacgagagtGaggaggtccggcagttccgg	10	6	16	9	3	0	3	0	2	0	1	2	5	2	4	3	5	1	2	3	5	1	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr19:36633596G>A	ENST00000246533.3	+	4	884	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CAPNS1_ENST00000588780.1_Missense_Mutation_p.E96K|CAPNS1_ENST00000587718.1_Missense_Mutation_p.E96K|CAPNS1_ENST00000590874.1_Intron|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588815.1_Missense_Mutation_p.E96K	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	96	EF-hand 1; atypical.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAACGAGAGTGAGGAGGTCCG	0.627													5	113					0	0	0	0	A	36633596	G	A	36633596	3	1	338	1	0	0	0	0	1	0	0	0	2658	1291	45	2	296	2	CAPNS1	19	36633596	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	14362672	36633596	22495387	77	62997											
ZFP14	57677	broad.mit.edu	37	chr19	36831910	36831910	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagtgtgaattctctgatgtCgagccagttgctgatgtact	8	14	11	8	1	1	3	0	3	1	0	3	4	1	3	1	0	3	3	1	0	2	3			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr19:36831910C>G	ENST00000270001.7	-	5	933	c.818G>C	c.(817-819)cGa>cCa	p.R273P		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCTCTGATGTCGAGCCAGTTG	0.433													4	76					0	0	0	0	G	36831910	C	G	36831910	3	3	338	1	0	0	0	0	1	0	0	0	17734	884	31	3	787	3	ZFP14	19	36831910	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	198314	36831910	22297073	78	62998											
POLD1	5424	broad.mit.edu	37	chr19	50905484	50905484	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttgggtaccacgggcaCggcccctccccgttcctgcg	4	9	12	16	4	0	0	0	0	0	0	2	0	2	0	6	3	2	4	6	3	1	3	rs147881471	byFrequency	TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr19:50905484C>T	ENST00000440232.2	+	6	665	c.612C>T	c.(610-612)caC>caT	p.H204H	POLD1_ENST00000599857.1_Silent_p.H204H|POLD1_ENST00000595904.1_Silent_p.H204H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	204					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACCACGGGCACGGCCCCTCCC	0.701								DNA polymerases (catalytic subunits)					6	70					0	0	0	0	T	50905484	C	T	50905484	2	4	338	1	0	0	0	0	0	0	0	1	12262	535	19	1		1	POLD1	19	50905484	Silent	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	14073574	50905484	8223499	79	62999											
PREX1	57580	broad.mit.edu	37	chr20	47324805	47324805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcctgtacacacctcccagCcttcgatgtgggactgcagc	7	9	10	15	1	0	0	0	0	0	0	3	2	2	1	4	1	4	2	4	1	1	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr20:47324805C>A	ENST00000396220.1	-	6	798	c.776G>T	c.(775-777)gGc>gTc	p.G259V	PREX1_ENST00000371941.3_Missense_Mutation_p.G259V			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	259					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CACCTCCCAGCCTTCGATGTG	0.622													10	101					0.000673444	0.00072732	1	0	A	47324805	C	A	47324805	3	1	338	1	0	0	0	0	1	0	0	0	12556	739	26	4	4343	4	PREX1	20	47324805	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08		47324805	15700715	80	63000											
COL18A1	80781	broad.mit.edu	37	chr21	46875459	46875459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgatggctccctacccCtgtggctgccacatcctgct	4	9	9	19	1	0	0	0	0	0	0	2	1	2	0	7	2	3	3	7	2	1	1			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr21:46875459C>T	ENST00000359759.4	+	1	36	c.15C>T	c.(13-15)ccC>ccT	p.P5P	COL18A1_ENST00000355480.5_Silent_p.P5P|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	5					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCCCTACCCCTGTGGCTGCC	0.672													5	47					0	0	0	0	T	46875459	C	T	46875459	2	4	338	1	0	0	0	0	0	0	0	1	3705	668	24	4		4	COL18A1	21	46875459	Silent	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08		46875459	1254436	81	63001											
ADORA2A	135	broad.mit.edu	37	chr22	24836656	24836656	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctaggttggaacaactgCggtcagccaaaggagggcaa	13	6	14	8	1	1	0	1	0	0	0	1	2	1	2	1	5	5	3	1	5	5	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr22:24836656C>T	ENST00000337539.7	+	3	897	c.438C>T	c.(436-438)tgC>tgT	p.C146C	KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	146					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GGAACAACTGCGGTCAGCCAA	0.587													74	208					0	0	0	0	T	24836656	C	T	24836656	2	4	338	1	0	0	0	0	0	0	0	1	327	776	27	1		1	ADORA2A	22	24836656	Silent	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08		24836656	26467910	82	63002											
AWAT1	158833	broad.mit.edu	37	chrX	69456945	69456945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaactacctcatgggggttCacccccatggcctcctgacc	8	8	8	17	0	2	1	2	1	0	0	3	1	3	1	6	3	2	1	6	3	2	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:69456945C>G	ENST00000374521.3	+	4	348	c.307C>G	c.(307-309)Cac>Gac	p.H103D	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	103					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CATGGGGGTTCACCCCCATGG	0.552													3	10					0	0	0	0	G	69456945	C	G	69456945	3	3	338	1	0	0	0	0	1	0	0	0	1238	826	29	2	321	2	AWAT1	23	69456945	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08		69456945	85813615	83	63003											
GDPD2	54857	broad.mit.edu	37	chrX	69645276	69645276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctgtacatcgggctcGtccttctcaatgacctgcac	6	11	10	14	2	1	1	1	1	1	0	5	1	2	1	2	2	2	5	2	2	2	2			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:69645276G>C	ENST00000453994.2	+	3	539	c.178G>C	c.(178-180)Gtc>Ctc	p.V60L	GDPD2_ENST00000374382.3_Missense_Mutation_p.V60L|GDPD2_ENST00000538649.1_Intron|GDPD2_ENST00000536730.1_5'UTR	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	60					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CATCGGGCTCGTCCTTCTCAA	0.572													7	51					0	0	0	0	C	69645276	G	C	69645276	3	2	338	1	0	0	0	0	1	0	0	0	6375	1145	40	3	184	3	GDPD2	23	69645276	Missense_Mutation	SNP	G	TCGA-CV-A45Y-01A-11D-A25D-08	188331	69645276	85625284	84	63004											
RGAG4	340526	broad.mit.edu	37	chrX	71350365	71350365	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatcttcactgtagtaCtcttcatcttcactttcttc	6	20	2	13	0	9	0	4	0	5	0	10	0	9	0	0	0	1	2	0	0	2	8			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:71350365C>G	ENST00000545866.1	-	1	1393	c.1026G>C	c.(1024-1026)gaG>gaC	p.E342D	RGAG4_ENST00000479991.1_Missense_Mutation_p.E342D|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	342										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CACTGTAGTACTCTTCATCTT	0.507													9	28					0	0	0	0	G	71350365	C	G	71350365	3	3	338	1	0	0	0	0	1	0	0	0	13357	564	20	4	687	4	RGAG4	23	71350365	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	1705089	71350365	83920195	85	63005											
BTK	695	broad.mit.edu	37	chrX	100617201	100617201	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggaagaggcttttttgtcTtccggtgagaactcccaggt	7	12	14	8	1	1	2	0	1	1	2	3	4	3	3	2	5	1	1	2	5	2	4			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:100617201T>C	ENST00000308731.7	-	7	711	c.548A>G	c.(547-549)aAg>aGg	p.K183R	BTK_ENST00000372880.1_Missense_Mutation_p.K183R	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	183					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTTTTTGTCTTCCGGTGAGA	0.493									Agammaglobulinemia, X-linked				8	34					0	0	0	0	C	100617201	T	C	100617201	3	2	338	1	0	0	0	0	1	0	0	0	1566	1609	56	5	1483	5	BTK	23	100617201	Missense_Mutation	SNP	T	TCGA-CV-A45Y-01A-11D-A25D-08	29266836	100617201	54653359	86	63006											
TRPC5	7224	broad.mit.edu	37	chrX	111025198	111025198	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcgccttctccgtctacCgtcagggtctcttttggggc	2	14	12	13	3	4	0	1	0	3	0	6	0	4	0	3	3	2	1	3	3	1	5			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:111025198C>G	ENST00000262839.2	-	8	2983	c.2065G>C	c.(2065-2067)Ggt>Cgt	p.G689R		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	689					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCCGTCTACCGTCAGGGTCT	0.433													21	56					0	0	0	0	G	111025198	C	G	111025198	3	3	338	1	0	0	0	0	1	0	0	0	16677	652	23	3	872	3	TRPC5	23	111025198	Missense_Mutation	SNP	C	TCGA-CV-A45Y-01A-11D-A25D-08	10407997	111025198	44245362	87	63007											
NKRF	55922	broad.mit.edu	37	chrX	118723885	118723885	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcttccccagcagcttcAtatttgacagttttcttcac	9	14	5	13	0	3	1	2	1	1	0	4	1	4	1	2	0	3	4	2	0	1	7			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:118723885A>G	ENST00000371527.1	-	2	2155	c.1503T>C	c.(1501-1503)taT>taC	p.Y501Y	NKRF_ENST00000542113.1_Silent_p.Y516Y|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Silent_p.Y501Y	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	501					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CAGCAGCTTCATATTTGACAG	0.423													10	89					0	0	0	0	G	118723885	A	G	118723885	2	3	338	1	0	0	0	0	0	0	0	1	10517	224	8	5		5	NKRF	23	118723885	Silent	SNP	A	TCGA-CV-A45Y-01A-11D-A25D-08	7698687	118723885	36546675	88	63008											
NOC2L	26155	broad.mit.edu	37	chr1	887966	887966	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttgcagttcctcacataCgtgatgtacatttgctgcgg	9	13	9	10	2	1	1	1	1	0	0	2	1	2	1	1	1	6	4	1	1	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:887966C>A	ENST00000327044.6	-	10	1066	c.1017G>T	c.(1015-1017)acG>acT	p.T339T		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	339						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCCTCACATACGTGATGTACA	0.627													4	40					0.00909568	0.00997907	1	0	A	887966	C	A	887966	2	1	339	1	0	0	0	0	0	0	0	1	10583	523	19	3		3	NOC2L	1	887966	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08		887966	248362655	1	63009											
ISG15	9636	broad.mit.edu	37	chr1	949561	949561	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccagggcctgggcccCggcagcacggtcctgctggt	4	5	16	16	2	0	0	0	0	0	0	1	0	1	0	6	5	3	3	6	5	0	0	rs1126663		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:949561C>A	ENST00000379389.4	+	2	352	c.201C>A	c.(199-201)ccC>ccA	p.P67P		NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	67	Ubiquitin-like 1.				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCCTGGGCCCCGGCAGCACGG	0.657													6	47					3.59834e-05	4.78558e-05	1	0	A	949561	C	A	949561	2	1	339	1	0	0	0	0	0	0	0	1	7906	639	23	3		3	ISG15	1	949561	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	61595	949561	248301060	2	63010											
MRPL20	55052	broad.mit.edu	37	chr1	1341264	1341264	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtaattcgattaatccaGagctgaaataagaaaacatg	17	10	8	6	1	0	3	0	1	0	2	2	4	1	3	1	0	2	3	1	0	6	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:1341264G>C	ENST00000482352.1	-	3	273	c.201C>G	c.(199-201)ctC>ctG	p.L67L	MRPL20_ENST00000344843.7_Silent_p.L67L|MRPL20_ENST00000493287.1_5'UTR			Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	67							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GATTAATCCAGAGCTGAAATA	0.378													4	59					0	0	0	0	C	1341264	G	C	1341264	2	2	339	1	0	0	0	0	0	0	0	1	9856	929	33	2		2	MRPL20	1	1341264	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	391703	1341264	247909357	3	63011											
AADACL4	343066	broad.mit.edu	37	chr1	12726225	12726225	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtttgcagttgccatccTttcagcagaaccaaaatgtc	10	13	7	11	0	2	1	1	0	1	1	4	1	3	1	3	0	4	4	3	0	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:12726225T>G	ENST00000376221.1	+	4	703	c.703T>G	c.(703-705)Ttt>Gtt	p.F235V		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	235						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GTTGCCATCCTTTCAGCAGAA	0.512													10	92					0	0	0	0	G	12726225	T	G	12726225	3	3	339	1	0	0	0	0	1	0	0	0	13	1609	56	5	717	5	AADACL4	1	12726225	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	11384961	12726225	236524396	4	63012											
PRAMEF10	343071	broad.mit.edu	37	chr1	12954995	12954995	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcacttgaagtttccacctCctgtgagtaacataggggaa	12	10	10	9	0	0	2	0	2	0	0	2	3	2	3	3	2	2	3	3	2	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:12954995C>G	ENST00000235347.4	-	3	367	c.287_splice	c.e3-1	p.R96_splice		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	96										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTCCACCTCCTGTGAGTAA	0.532													13	111					0	0	0	0	G	12954995	C	G	12954995	5	3	339	1	0	0	0	0	0	0	1	0	12502	869	30	2	1144	2	PRAMEF10	1	12954995	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	228770	12954995	236295626	5	63013											
USP48	84196	broad.mit.edu	37	chr1	22047643	22047643	+	Frame_Shift_Del	DEL	C	C	-																															ccgcaaggaggacttccccaCccaaaatccatcgctgctgt																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:22047643delC	ENST00000308271.9	-	14	2428	c.1780delG	c.(1780-1782)tgfs	p.V594fs	USP48_ENST00000374732.3_Frame_Shift_Del_p.V132fs|USP48_ENST00000529637.1_Frame_Shift_Del_p.V593fs|USP48_ENST00000400301.1_Frame_Shift_Del_p.V594fs	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	594	DUSP 2.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GACTTCCCCACCCAAAATCCA	0.453													7	78	---	---	---	---					-	22047643	C	-	22047643	7	5	339	1	0	1	0	1	0	0	0	0	17175	507	18	0	1383	0	USP48	1	22047643	Frame_Shift_Del	DEL	C	TCGA-CV-A45Z-01A-21D-A25D-08	9092648	22047643	227202978	6	63014											
ZNF593	51042	broad.mit.edu	37	chr1	26497002	26497003	+	Frame_Shift_Ins	INS	-	-	G																															taaggagaggattgatggatINSgggtgctcagcagatagggc																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:26497002_26497003insG	ENST00000270812.5	+	2	336_337	c.294_295insG	c.(292-297)gaggtgfs	p.V99fs	RP11-96L14.7_ENST00000407889.2_RNA|ZNF593_ENST00000374266.5_Intron|RP11-96L14.7_ENST00000444682.1_RNA|RP11-96L14.7_ENST00000448923.1_RNA|RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000414762.1_RNA			O00488	ZN593_HUMAN	zinc finger protein 593	0					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding|transcription corepressor activity|zinc ion binding			large_intestine(4)|prostate(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GATTGATGGATGGGTGCTCAGC	0.52													15	83	---	---	---	---					G	26497003	-	G	26497002	7	5	339	1	0	1	1	0	0	0	0	0	18118	1479	51	0		0	ZNF593	1	26497002	Frame_Shift_Ins	INS	-	TCGA-CV-A45Z-01A-21D-A25D-08	4449359	26497002	222753619	7	63015											
MACF1	23499	broad.mit.edu	37	chr1	39781291	39781291	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttcaagtgtcccaactcTgcgctcagaactgaatctgc	10	11	8	12	1	4	2	2	1	2	1	5	2	5	2	1	0	4	2	1	0	5	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:39781291T>G	ENST00000564288.1	+	27	4154	c.3377T>G	c.(3376-3378)cTg>cGg	p.L1126R	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L1131R|MACF1_ENST00000539005.1_Missense_Mutation_p.L1131R|MACF1_ENST00000372915.3_Missense_Mutation_p.L1131R|MACF1_ENST00000317713.7_Missense_Mutation_p.L1131R|MACF1_ENST00000545844.1_Missense_Mutation_p.L1131R|MACF1_ENST00000567887.1_Missense_Mutation_p.L1163R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1131	Poly-Ser.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCCCAACTCTGCGCTCAGAA	0.453													5	59					0	0	0	0	G	39781291	T	G	39781291	3	3	339	1	0	0	0	0	1	0	0	0	9209	1580	55	5	3494	5	MACF1	1	39781291	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	13284289	39781291	209469330	8	63016											
B4GALT2	8704	broad.mit.edu	37	chr1	44450609	44450609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgctgaaggaggatgccGcctatgactgcttcatcttc	8	10	12	11	2	2	2	1	2	1	0	3	4	2	4	2	3	2	2	2	3	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:44450609G>A	ENST00000356836.6	+	4	1412	c.622G>A	c.(622-624)Gcc>Acc	p.A208T	B4GALT2_ENST00000372324.1_Missense_Mutation_p.A208T|B4GALT2_ENST00000309519.7_Missense_Mutation_p.A237T|B4GALT2_ENST00000434555.2_Missense_Mutation_p.A142T|B4GALT2_ENST00000481924.1_3'UTR	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	208					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GGAGGATGCCGCCTATGACTG	0.602													6	24					0	0	0	0	A	44450609	G	A	44450609	3	1	339	1	0	0	0	0	1	0	0	0	1275	1087	38	1	632	1	B4GALT2	1	44450609	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4669318	44450609	204800012	9	63017											
OSBPL9	114883	broad.mit.edu	37	chr1	52242582	52242582	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttttgcacatccggacctGtttgtgaggtatttgactga	7	17	10	7	1	0	3	0	3	0	0	1	4	1	4	2	2	1	3	2	2	1	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:52242582G>A	ENST00000371710.3	+	15	1484	c.1302G>A	c.(1300-1302)ctG>ctA	p.L434L	OSBPL9_ENST00000361556.5_Silent_p.L306L|OSBPL9_ENST00000486942.1_Silent_p.L238L|OSBPL9_ENST00000453295.1_Silent_p.L399L|OSBPL9_ENST00000447887.1_Silent_p.L426L|OSBPL9_ENST00000435686.2_Silent_p.L251L|OSBPL9_ENST00000428468.1_Silent_p.L416L|OSBPL9_ENST00000530544.1_Silent_p.L335L|OSBPL9_ENST00000462759.1_Silent_p.L238L|OSBPL9_ENST00000337809.4_Silent_p.L421L|OSBPL9_ENST00000531828.1_Silent_p.L251L|OSBPL9_ENST00000371714.1_Silent_p.L403L	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	416					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATCCGGACCTGTTTGTGAGGT	0.378													5	48					0	0	0	0	A	52242582	G	A	52242582	2	1	339	1	0	0	0	0	0	0	0	1	11355	1364	48	4		4	OSBPL9	1	52242582	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	7791973	52242582	197008039	10	63018											
PODN	127435	broad.mit.edu	37	chr1	53544425	53544425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcaacctcagctacaacCgcatcaccagcccgcaggtg	11	5	8	17	2	3	0	3	0	0	0	3	0	3	0	4	1	6	4	4	1	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:53544425C>A	ENST00000371500.3	+	10	1671	c.1330C>A	c.(1330-1332)Cgc>Agc	p.R444S	PODN_ENST00000395871.2_Missense_Mutation_p.R321S|PODN_ENST00000312553.5_Missense_Mutation_p.R463S|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	415			T -> M (in dbSNP:rs12567021).		negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGCTACAACCGCATCACCAG	0.647													7	70					0.0293803	0.0311868	1	0	A	53544425	C	A	53544425	3	1	339	1	0	0	0	0	1	0	0	0	12250	652	23	3	1417	3	PODN	1	53544425	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1301843	53544425	195706196	11	63019											
C8B	732	broad.mit.edu	37	chr1	57411648	57411648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccgcttaactctctgaagGaactcgtaatggagcatgag	12	9	11	9	2	1	2	0	2	1	0	3	4	1	4	1	2	4	3	1	2	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:57411648G>T	ENST00000543257.1	-	8	1361	c.795C>A	c.(793-795)ttC>ttA	p.F265L	C8B_ENST00000535057.1_Missense_Mutation_p.F255L|C8B_ENST00000371237.4_Missense_Mutation_p.F317L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	317	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTCTCTGAAGGAACTCGTAAT	0.483													5	43					0.000602214	0.000724082	1	0	T	57411648	G	T	57411648	3	4	339	1	0	0	0	0	1	0	0	0	2440	1165	41	2	848	2	C8B	1	57411648	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3867223	57411648	191838973	12	63020											
LRRC7	57554	broad.mit.edu	37	chr1	70504981	70504981	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagggccgactccctggtGagcgccacagaaatggccat	11	5	13	12	2	0	3	0	1	0	2	1	4	1	3	4	3	1	0	4	3	2	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:70504981G>A	ENST00000310961.5	+	22	3793	c.3375G>A	c.(3373-3375)gtG>gtA	p.V1125V	LRRC7_ENST00000415775.2_Silent_p.V404V|LRRC7_ENST00000035383.5_Silent_p.V1120V			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1120						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACTCCCTGGTGAGCGCCACAG	0.577													13	86					0	0	0	0	A	70504981	G	A	70504981	2	1	339	1	0	0	0	0	0	0	0	1	9084	1277	45	2		2	LRRC7	1	70504981	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	13093333	70504981	178745640	13	63021											
LRRIQ3	127255	broad.mit.edu	37	chr1	74649196	74649196	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatctgtaataaaattgtttGagaagatgcatactctaaga	16	14	7	4	0	2	3	0	1	2	3	2	4	2	3	0	0	2	3	0	0	7	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:74649196G>C	ENST00000354431.4	-	2	364	c.173C>G	c.(172-174)tCa>tGa	p.S58*	LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.S58*|LRRIQ3_ENST00000370911.3_Nonsense_Mutation_p.S58*|LRRIQ3_ENST00000370909.2_Nonsense_Mutation_p.S58*	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	58										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAaattgtttgagaagatgca	0.313													6	50					0	0	0	0	C	74649196	G	C	74649196	4	2	339	1	0	0	0	0	0	1	0	0	9094	1294	45	2	1729	2	LRRIQ3	1	74649196	Nonsense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4144215	74649196	174601425	14	63022											
GBP6	163351	broad.mit.edu	37	chr1	89849845	89849845	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttggagcacacgcagaaGgtaagtctgcccttggcctc	9	9	12	11	1	1	1	0	0	1	1	2	2	1	2	2	3	2	4	2	3	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:89849845G>T	ENST00000370456.4	+	10	1755	c.1662_splice	c.e10+1	p.K554_splice	GBP6_ENST00000535065.1_Splice_Site_p.K424_splice	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	554							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ACACGCAGAAGGTAAGTCTGC	0.522													4	8					0.150653	0.155585	1	0	T	89849845	G	T	89849845	5	4	339	1	0	0	0	0	0	0	1	0	6327	1014	35	4	1696	4	GBP6	1	89849845	Splice_Site	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	15200649	89849845	159400776	15	63023											
DPYD	1806	broad.mit.edu	37	chr1	98157300	98157300	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggtccttcattagctcAatctcaaaattcactacatc	13	12	3	13	0	4	0	4	0	1	0	7	0	5	0	2	1	2	1	2	1	6	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:98157300A>T	ENST00000370192.3	-	7	835	c.735T>A	c.(733-735)atT>atA	p.I245I	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	245					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCATTAGCTCAATCTCAAAAT	0.373													4	33					0	0	0	0	T	98157300	A	T	98157300	2	4	339	1	0	0	0	0	0	0	0	1	4781	126	5	5		5	DPYD	1	98157300	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	8307455	98157300	151093321	16	63024											
S1PR1	1901	broad.mit.edu	37	chr1	101705599	101705599	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcatggaattcagccgcagCaaatcggacaattcctccca	12	7	9	13	2	1	0	1	0	0	0	4	2	3	2	3	3	2	3	3	3	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:101705599C>T	ENST00000305352.6	+	2	1434	c.1059C>T	c.(1057-1059)agC>agT	p.S353S		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	353					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCAGCCGCAGCAAATCGGACA	0.547													11	61					0	0	0	0	T	101705599	C	T	101705599	2	4	339	1	0	0	0	0	0	0	0	1	13878	709	25	4		4	S1PR1	1	101705599	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3548299	101705599	147545022	17	63025											
AMY2B	280	broad.mit.edu	37	chr1	104115725	104115725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtaattaatcatatgtctgGtaatgctgtgagtgcaggaa	12	14	11	4	0	2	1	1	1	1	0	2	2	2	2	0	2	2	4	0	2	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:104115725G>T	ENST00000361355.4	+	5	972	c.356G>T	c.(355-357)gGt>gTt	p.G119V	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	119					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CATATGTCTGGTAATGCTGTG	0.398													36	206					2.42023e-17	4.10095e-17	1	0	T	104115725	G	T	104115725	3	4	339	1	0	0	0	0	1	0	0	0	595	1261	44	4	366	4	AMY2B	1	104115725	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2410126	104115725	145134896	18	63026											
SYT6	148281	broad.mit.edu	37	chr1	114682431	114682431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctctgaagctggggctctgGagggcttccaaggggggatt	6	9	17	9	0	2	1	0	1	2	0	3	3	3	3	2	7	1	3	2	7	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:114682431G>A	ENST00000393296.1	-	2	395	c.318C>T	c.(316-318)ctC>ctT	p.L106L	SYT6_ENST00000369547.1_Silent_p.L21L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	106					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGGGCTCTGGAGGGCTTCCA	0.597													10	76					0	0	0	0	A	114682431	G	A	114682431	2	1	339	1	0	0	0	0	0	0	0	1	15569	1161	41	2		2	SYT6	1	114682431	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	10566706	114682431	134568190	19	63027											
DENND2C	163259	broad.mit.edu	37	chr1	115167942	115167942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atacggcgtaacaccagattCggataaatatctgaatgtcc	14	10	8	9	3	1	2	0	1	1	1	3	3	2	3	2	2	2	1	2	2	6	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:115167942C>T	ENST00000393274.1	-	4	1289	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.E222K|DENND2C_ENST00000393276.3_Missense_Mutation_p.E222K	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	222										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		ACACCAGATTCGGATAAATAT	0.393													9	49					0	0	0	0	T	115167942	C	T	115167942	3	4	339	1	0	0	0	0	1	0	0	0	4467	893	31	1	2019	1	DENND2C	1	115167942	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	485511	115167942	134082679	20	63028											
FAM46C	54855	broad.mit.edu	37	chr1	118165857	118165857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctgaacttcctgccagagGgtgtgaacaagctcaaaatc	12	10	9	10	0	2	3	1	2	1	1	4	3	3	3	2	1	4	1	2	1	5	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:118165857G>A	ENST00000369448.3	+	2	614	c.367G>A	c.(367-369)Ggt>Agt	p.G123S		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	123										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CCTGCCAGAGGGTGTGAACAA	0.502			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			14	63					0	0	0	0	A	118165857	G	A	118165857	3	1	339	1	0	0	0	0	1	0	0	0	5614	1232	43	4	369	4	FAM46C	1	118165857	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2997915	118165857	131084764	21	63029											
SPAG17	200162	broad.mit.edu	37	chr1	118629544	118629544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagaagggacacaatgtGagctgcgattctgtggtcta	10	9	15	7	1	2	2	0	1	2	1	2	4	2	3	0	3	2	2	0	3	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:118629544G>T	ENST00000336338.5	-	11	1512	c.1447C>A	c.(1447-1449)Cac>Aac	p.H483N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	483						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GACACAATGTGAGCTGCGATT	0.502													10	66					7.48243e-07	1.10426e-06	1	0	T	118629544	G	T	118629544	3	4	339	1	0	0	0	0	1	0	0	0	15069	1290	45	2	5376	2	SPAG17	1	118629544	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	463687	118629544	130621077	22	63030											
HSD3B2	3284	broad.mit.edu	37	chr1	119965036	119965036	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtagtgagcttcctactCagcccaatttactcctatca	11	12	6	12	0	2	1	2	1	0	0	4	2	4	1	3	0	4	2	3	0	6	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:119965036C>T	ENST00000543831.1	+	4	1161	c.912C>T	c.(910-912)ctC>ctT	p.L304L	HSD3B2_ENST00000369416.3_Silent_p.L304L	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	304					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GCTTCCTACTCAGCCCAATTT	0.488													5	43					0	0	0	0	T	119965036	C	T	119965036	2	4	339	1	0	0	0	0	0	0	0	1	7441	813	29	2		2	HSD3B2	1	119965036	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1335492	119965036	129285585	23	63031											
PRUNE	58497	broad.mit.edu	37	chr1	151006322	151006322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcccactctccacccctgaAgctgacccctgcctcaagta	8	8	5	20	0	2	2	1	2	1	0	4	2	3	2	7	0	2	2	7	0	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:151006322A>G	ENST00000271620.3	+	8	1130	c.974A>G	c.(973-975)aAg>aGg	p.K325R	PRUNE_ENST00000368934.1_Missense_Mutation_p.K90R|PRUNE_ENST00000368935.1_Missense_Mutation_p.K40R|PRUNE_ENST00000368936.1_Missense_Mutation_p.K143R|PRUNE_ENST00000368937.1_Missense_Mutation_p.K90R|PRUNE_ENST00000271619.8_Missense_Mutation_p.K113R	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	325						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCACCCCTGAAGCTGACCCCT	0.527													12	78					0	0	0	0	G	151006322	A	G	151006322	3	3	339	1	0	0	0	0	1	0	0	0	12719	72	3	5	1004	5	PRUNE	1	151006322	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	31041286	151006322	98244299	24	63032											
RPTN	126638	broad.mit.edu	37	chr1	152129375	152129375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcatgaaaatcaatatgtCcatctcggtcttgatctaag	13	13	6	9	1	5	2	2	2	3	0	7	2	6	2	1	1	0	0	1	1	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:152129375C>A	ENST00000316073.3	-	3	264	c.200G>T	c.(199-201)gGa>gTa	p.G67V		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	67	EF-hand 2.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATCAATATGTCCATCTCGGTC	0.433													14	87					9.31168e-06	1.29486e-05	1	0	A	152129375	C	A	152129375	3	1	339	1	0	0	0	0	1	0	0	0	13749	855	30	2	2158	2	RPTN	1	152129375	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1123053	152129375	97121246	25	63033											
LCE2C	353140	broad.mit.edu	37	chr1	152648545	152648545	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcccaagtgtcctccCaagtgtaccccaaaatgtcc	9	8	5	19	0	0	0	0	0	0	0	4	0	4	0	8	0	1	1	8	0	5	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:152648545C>A	ENST00000368783.1	+	2	109	c.54C>A	c.(52-54)ccC>ccA	p.P18P	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	18	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			agtgtcctcccaagtgtaccc	0.522													7	68					0.00198382	0.00229771	1	0	A	152648545	C	A	152648545	2	1	339	1	0	0	0	0	0	0	0	1	8720	581	21	4		4	LCE2C	1	152648545	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	519170	152648545	96602076	26	63034											
SMCP	4184	broad.mit.edu	37	chr1	152856902	152856902	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagtgttcagaagatgTgtgaccagacaaaacacagt	15	8	9	9	0	1	4	1	1	0	3	2	4	2	4	2	0	1	1	2	0	4	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:152856902T>A	ENST00000368765.3	+	2	154	c.4T>A	c.(4-6)Tgt>Agt	p.C2S		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	2					penetration of zona pellucida|sperm motility	mitochondrial membrane				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGAAGATGTGTGACCAGAC	0.443													9	46					0	0	0	0	A	152856902	T	A	152856902	3	1	339	1	0	0	0	0	1	0	0	0	14877	1696	59	5	6	5	SMCP	1	152856902	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	208357	152856902	96393719	27	63035											
HCN3	57657	broad.mit.edu	37	chr1	155257696	155257696	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggggtgttcggggtcgggcCccgagcacaggagctcagct	5	6	18	12	4	1	0	1	0	0	0	3	2	1	1	2	6	3	4	2	6	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:155257696C>T	ENST00000368358.3	+	8	1775	c.1767C>T	c.(1765-1767)gcC>gcT	p.A589A	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	589						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGGTCGGGCCCCGAGCACAG	0.612													8	36					0	0	0	0	T	155257696	C	T	155257696	2	4	339	1	0	0	0	0	0	0	0	1	7048	610	22	4		4	HCN3	1	155257696	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2400794	155257696	93992925	28	63036											
PKLR	5313	broad.mit.edu	37	chr1	155271182	155271182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgatatgttctcctggatcGacatgctttcagtgtgggcc	7	14	11	9	1	2	1	1	1	1	0	4	3	2	2	2	2	1	2	2	2	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:155271182G>A	ENST00000342741.4	-	1	43	c.5C>T	c.(4-6)tCg>tTg	p.S2L		NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	2					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTCCTGGATCGACATGCTTTC	0.512													6	30					0	0	0	0	A	155271182	G	A	155271182	3	1	339	1	0	0	0	0	1	0	0	0	12048	1059	37	1	1774	1	PKLR	1	155271182	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	13486	155271182	93979439	29	63037											
FCRL5	83416	broad.mit.edu	37	chr1	157514800	157514800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattattcagtgttacttccGcctttgcccggcacctcaga	7	14	7	13	2	2	1	2	0	0	1	3	1	3	1	4	1	2	2	4	1	3	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:157514800G>T	ENST00000361835.3	-	4	537	c.380C>A	c.(379-381)gCg>gAg	p.A127E	FCRL5_ENST00000356953.4_Missense_Mutation_p.A127E|FCRL5_ENST00000368191.3_Missense_Mutation_p.A42E|FCRL5_ENST00000368189.3_Missense_Mutation_p.A127E|FCRL5_ENST00000368190.3_Missense_Mutation_p.A127E	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	127						integral to membrane|plasma membrane	receptor activity	p.A127E(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGTTACTTCCGCCTTTGCCCG	0.418													10	43					0.000442599	0.00054214	1	0	T	157514800	G	T	157514800	3	4	339	1	0	0	0	0	1	0	0	0	5843	1087	38	3	2609	3	FCRL5	1	157514800	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2243618	157514800	91735821	30	63038											
OR10K2	391107	broad.mit.edu	37	chr1	158390342	158390342	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgagagcagccaaggaaGaggaaggaaaacatttggat	17	5	15	4	0	0	2	0	1	0	2	0	8	0	6	1	4	3	1	1	4	5	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:158390342G>T	ENST00000314902.2	-	1	314	c.315C>A	c.(313-315)ctC>ctA	p.L105L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGCCAAGGAAGAGGAAGGAAA	0.493													8	93					0.000157383	0.000199178	1	0	T	158390342	G	T	158390342	2	4	339	1	0	0	0	0	0	0	0	1	10985	929	33	2		2	OR10K2	1	158390342	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	875542	158390342	90860279	31	63039											
SPTA1	6708	broad.mit.edu	37	chr1	158651364	158651364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacactcctgtacatactGctggaacttcagggcccgca	10	8	9	14	1	1	0	1	0	0	0	2	1	2	1	2	2	5	4	2	2	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:158651364G>T	ENST00000368148.3	-	4	664	c.484C>A	c.(484-486)Cag>Aag	p.Q162K	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q162K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	162					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTACATACTGCTGGAACTTC	0.542													16	130					1.15088e-07	1.76391e-07	1	0	T	158651364	G	T	158651364	3	4	339	1	0	0	0	0	1	0	0	0	15206	1328	46	4	6971	4	SPTA1	1	158651364	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	261022	158651364	90599257	32	63040											
OR10J3	441911	broad.mit.edu	37	chr1	159283536	159283536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagagttttttgccccaCggctctgtgcagagcatctt	8	12	10	11	1	2	3	0	0	2	3	2	3	2	3	2	1	3	4	2	1	0	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:159283536C>T	ENST00000332217.5	-	1	913	c.914G>A	c.(913-915)cGt>cAt	p.R305H		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R305H(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTTGCCCCACGGCTCTGTGC	0.428													12	68					0	0	0	0	T	159283536	C	T	159283536	3	4	339	1	0	0	0	0	1	0	0	0	10982	536	19	1	77	1	OR10J3	1	159283536	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	632172	159283536	89967085	33	63041											
APCS	325	broad.mit.edu	37	chr1	159558474	159558474	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaatcagaggatatgtcatCatcaaacccttggtgtgggt	12	11	11	7	0	4	1	4	0	0	1	4	3	4	2	1	3	1	0	1	3	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:159558474C>G	ENST00000255040.2	+	2	745	c.648C>G	c.(646-648)atC>atG	p.I216M		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	216	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GATATGTCATCATCAAACCCT	0.468													5	25					0	0	0	0	G	159558474	C	G	159558474	3	3	339	1	0	0	0	0	1	0	0	0	768	816	29	2	654	2	APCS	1	159558474	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	274938	159558474	89692147	34	63042											
MAEL	84944	broad.mit.edu	37	chr1	166987073	166987073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttttaaaggtactgcatCagtaattctctggccactct	9	16	6	10	0	4	0	1	0	3	0	5	0	4	0	1	2	2	3	1	2	4	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:166987073C>G	ENST00000367872.4	+	10	1162	c.918C>G	c.(916-918)atC>atG	p.I306M	MAEL_ENST00000367870.2_Missense_Mutation_p.I275M|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	306					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GGTACTGCATCAGTAATTCTC	0.343													12	36					0	0	0	0	G	166987073	C	G	166987073	3	3	339	1	0	0	0	0	1	0	0	0	9219	816	29	2	956	2	MAEL	1	166987073	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	7428599	166987073	82263548	35	63043											
FMO1	2326	broad.mit.edu	37	chr1	171251202	171251202	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatcaggccaagcataaaaGaggtaaaggaaaactctgtc	17	7	9	8	0	3	1	2	0	1	1	4	2	3	2	1	3	2	2	1	3	7	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:171251202G>C	ENST00000354841.4	+	6	1044	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	FMO1_ENST00000402921.2_Missense_Mutation_p.E242Q|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.E305Q			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	305					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGCATAAAAGAGGTAAAGGA	0.408													9	40					0	0	0	0	C	171251202	G	C	171251202	3	2	339	1	0	0	0	0	1	0	0	0	5999	943	33	2	935	2	FMO1	1	171251202	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4264129	171251202	77999419	36	63044											
METTL13	51603	broad.mit.edu	37	chr1	171753398	171753398	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcccttcagatctttgaGctgtgtgctcaggagcagcg	6	12	12	11	1	4	2	2	1	2	1	4	3	4	3	1	1	5	3	1	1	0	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:171753398G>A	ENST00000361735.3	+	2	938	c.672G>A	c.(670-672)gaG>gaA	p.E224E	METTL13_ENST00000362019.3_Silent_p.E138E|METTL13_ENST00000458517.1_Silent_p.E223E|METTL13_ENST00000367737.5_Intron	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	224							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AGATCTTTGAGCTGTGTGCTC	0.612													5	47					0	0	0	0	A	171753398	G	A	171753398	2	1	339	1	0	0	0	0	0	0	0	1	9566	962	34	4		4	METTL13	1	171753398	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	502196	171753398	77497223	37	63045											
TNN	63923	broad.mit.edu	37	chr1	175105997	175105997	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaccggcactccagcGcggtatgaggtgagagtgga	9	6	14	12	3	1	2	1	2	0	1	2	4	2	3	3	4	1	2	3	4	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:175105997G>A	ENST00000239462.4	+	17	3581	c.3468G>A	c.(3466-3468)gcG>gcA	p.A1156A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1156	Fibrinogen C-terminal.		A -> V (in dbSNP:rs2072036).		cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A1156A(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCACTCCAGCGCGGTATGAGG	0.453													3	30					0	0	0	0	A	175105997	G	A	175105997	2	1	339	1	0	0	0	0	0	0	0	1	16417	1074	38	1		1	TNN	1	175105997	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3352599	175105997	74144624	38	63046											
TNR	7143	broad.mit.edu	37	chr1	175334226	175334226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacaatatactctgtggctGgttgcaggcccatcaggaca	10	10	10	11	0	3	0	2	0	1	0	3	1	3	1	1	4	2	3	1	4	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:175334226G>T	ENST00000367674.1	-	12	3215	c.2507C>A	c.(2506-2508)cCa>cAa	p.P836Q	TNR_ENST00000263525.2_Missense_Mutation_p.P836Q	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	836	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTCTGTGGCTGGTTGCAGGCC	0.557													6	54					3.59834e-05	4.78558e-05	1	0	T	175334226	G	T	175334226	3	4	339	1	0	0	0	0	1	0	0	0	16432	1348	47	4	1617	4	TNR	1	175334226	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	228229	175334226	73916395	39	63047											
PAPPA2	60676	broad.mit.edu	37	chr1	176526028	176526028	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaccagagacccaaaggagGggctgggccaagtccaggca	14	2	14	11	0	0	1	0	0	0	1	1	3	1	2	4	5	1	2	4	5	3	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:176526028G>A	ENST00000367662.3	+	2	1734	c.570G>A	c.(568-570)agG>agA	p.R190R	PAPPA2_ENST00000367661.3_Silent_p.R190R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	190					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAAAGGAGGGGCTGGGCCA	0.587													10	76					0	0	0	0	A	176526028	G	A	176526028	2	1	339	1	0	0	0	0	0	0	0	1	11504	1223	43	4		4	PAPPA2	1	176526028	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1191802	176526028	72724593	40	63048											
ASTN1	460	broad.mit.edu	37	chr1	176863966	176863966	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcatctgatggggagttgCctgcagacacaaaatggaaa	14	8	11	8	0	2	2	1	1	1	1	2	4	2	4	1	3	2	2	1	3	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:176863966C>A	ENST00000367654.2	-	17	2709	c.2695_splice	c.e17-1	p.G899_splice	ASTN1_ENST00000424564.2_Splice_Site_p.G891_splice|ASTN1_ENST00000361833.2_Splice_Site_p.G891_splice|ASTN1_ENST00000367657.3_Splice_Site_p.G891_splice			O14525	ASTN1_HUMAN	astrotactin 1	899					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						TGGGGAGTTGCCTGCAGACAC	0.512													6	50					0.217242	0.220863	1	0	A	176863966	C	A	176863966	5	1	339	1	0	0	0	0	0	0	1	0	1068	753	26	4	1244	4	ASTN1	1	176863966	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	337938	176863966	72386655	41	63049											
KIAA1614	57710	broad.mit.edu	37	chr1	180885891	180885891	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcccgatccatggagttactCccggacggcctgggggtcct	5	8	14	14	3	0	0	0	0	0	0	3	3	3	2	5	5	1	1	5	5	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:180885891C>G	ENST00000367588.4	+	2	707	c.652C>G	c.(652-654)Ccc>Gcc	p.P218A		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	218										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TGGAGTTACTCCCGGACGGCC	0.582													20	93					0	0	0	0	G	180885891	C	G	180885891	3	3	339	1	0	0	0	0	1	0	0	0	8299	855	30	2	658	2	KIAA1614	1	180885891	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	4021925	180885891	68364730	42	63050											
HMCN1	83872	broad.mit.edu	37	chr1	186072767	186072767	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaagtgcaaactctaggAggaggagaggttcttcgaat	13	9	13	6	1	3	1	1	0	2	1	4	6	3	3	0	4	2	2	0	4	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:186072767A>G	ENST00000271588.4	+	69	10966	c.10737A>G	c.(10735-10737)ggA>ggG	p.G3579G	HMCN1_ENST00000367492.2_Silent_p.G3579G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3579	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAACTCTAGGAGGAGGAGAGG	0.433													8	51					0	0	0	0	G	186072767	A	G	186072767	2	3	339	1	0	0	0	0	0	0	0	1	7270	291	11	5		5	HMCN1	1	186072767	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	5186876	186072767	63177854	43	63051											
KCNT2	343450	broad.mit.edu	37	chr1	196303149	196303149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacagggtagggccacttgCtgatctacagcttgtatctt	9	12	11	9	0	2	2	0	1	2	1	2	2	2	2	1	2	3	4	1	2	3	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:196303149C>A	ENST00000367433.5	-	17	1926	c.1825G>T	c.(1825-1827)Gca>Tca	p.A609S	KCNT2_ENST00000367431.4_Missense_Mutation_p.A559S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.A609S|KCNT2_ENST00000451324.2_Missense_Mutation_p.A220S			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	609						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGCCACTTGCTGATCTACAG	0.403													6	15					0.00116845	0.00137597	1	0	A	196303149	C	A	196303149	3	1	339	1	0	0	0	0	1	0	0	0	8145	797	28	4	1630	4	KCNT2	1	196303149	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	10230382	196303149	52947472	44	63052											
CFH	3075	broad.mit.edu	37	chr1	196654239	196654239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaatggtgactactcacCtttaaggattaaacacagaa	16	10	6	9	0	1	2	1	1	0	1	2	3	2	3	2	2	2	0	2	2	6	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:196654239C>A	ENST00000367429.4	+	7	1076	c.836C>A	c.(835-837)cCt>cAt	p.P279H	CFH_ENST00000439155.2_Missense_Mutation_p.P279H|CFH_ENST00000359637.2_Missense_Mutation_p.P215H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	279	Sushi 5.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GACTACTCACCTTTAAGGATT	0.338													4	61					0.150653	0.155585	1	0	A	196654239	C	A	196654239	3	1	339	1	0	0	0	0	1	0	0	0	3312	681	24	4	862	4	CFH	1	196654239	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	351090	196654239	52596382	45	63053											
CFHR5	81494	broad.mit.edu	37	chr1	196971713	196971713	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaaagtagctgttctcTgtaaagaaaactatctactt	16	12	7	6	0	2	2	0	0	2	2	3	3	2	2	0	0	3	4	0	0	9	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:196971713T>A	ENST00000367414.5	+	8	1377	c.1321T>A	c.(1321-1323)Tgt>Agt	p.C441S	CFHR5_ENST00000256785.4_Missense_Mutation_p.C417S	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	417	Sushi 7.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AGCTGTTCTCTGTAAAGAAAA	0.383													3	13					0	0	0	0	A	196971713	T	A	196971713	3	1	339	1	0	0	0	0	1	0	0	0	3317	1580	55	5	1279	5	CFHR5	1	196971713	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	317474	196971713	52278908	46	63054											
F13B	2165	broad.mit.edu	37	chr1	197008535	197008535	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaagggttcttgataagaCagagtgcttgaggggaaaaa	14	10	13	4	0	1	4	0	2	1	2	1	5	1	5	0	3	1	2	0	3	4	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:197008535C>A	ENST00000367412.1	-	12	2002	c.1959G>T	c.(1957-1959)ctG>ctT	p.L653L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	653					blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTTGATAAGACAGAGTGCTTG	0.313													11	86					3.86212e-05	5.08466e-05	1	0	A	197008535	C	A	197008535	2	1	339	1	0	0	0	0	0	0	0	1	5379	465	17	4		4	F13B	1	197008535	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	36822	197008535	52242086	47	63055											
F13B	2165	broad.mit.edu	37	chr1	197029517	197029517	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcgcatacaggagattctgGgtaccaaccaaagttatagc	13	10	9	9	1	1	1	0	0	1	1	2	2	1	1	2	2	4	3	2	2	6	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:197029517G>C	ENST00000367412.1	-	5	827	c.784C>G	c.(784-786)Cca>Gca	p.P262A		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	262	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GGAGATTCTGGGTACCAACCA	0.333													6	57					0	0	0	0	C	197029517	G	C	197029517	3	2	339	1	0	0	0	0	1	0	0	0	5379	1232	43	4	1233	4	F13B	1	197029517	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	20982	197029517	52221104	48	63056											
CRB1	23418	broad.mit.edu	37	chr1	197404338	197404338	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactttgaaaatgttcatggTttcattaataaacctcagga	14	15	6	6	0	3	1	3	1	0	0	3	2	3	2	1	2	2	2	1	2	6	6	rs62636278		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:197404338T>C	ENST00000367397.1	+	5	2346	c.1488T>C	c.(1486-1488)ggT>ggC	p.G496G	CRB1_ENST00000367399.2_Silent_p.G1003G|CRB1_ENST00000535699.1_Silent_p.G1091G|CRB1_ENST00000367400.3_Silent_p.G1115G|CRB1_ENST00000544212.1_Silent_p.G596G|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1115	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATGTTCATGGTTTCATTAATA	0.398													7	58					0	0	0	0	C	197404338	T	C	197404338	2	2	339	1	0	0	0	0	0	0	0	1	3878	1712	60	5		5	CRB1	1	197404338	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	374821	197404338	51846283	49	63057											
LHX9	56956	broad.mit.edu	37	chr1	197890699	197890699	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggcggcctggccctgcctTacttcaacggtacgggcacc	5	7	13	16	4	1	0	1	0	0	0	1	0	1	0	4	5	4	2	4	5	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:197890699T>G	ENST00000367390.3	+	4	643	c.616T>G	c.(616-618)Tac>Gac	p.Y206D	LHX9_ENST00000367391.1_Missense_Mutation_p.Y206D|LHX9_ENST00000337020.2_Missense_Mutation_p.Y215D|LHX9_ENST00000367387.4_Missense_Mutation_p.Y215D|LHX9_ENST00000561173.1_Missense_Mutation_p.Y221D	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	215					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GGCCCTGCCTTACTTCAACGG	0.642													4	23					0	0	0	0	G	197890699	T	G	197890699	3	3	339	1	0	0	0	0	1	0	0	0	8831	1754	61	5	685	5	LHX9	1	197890699	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	486361	197890699	51359922	50	63058											
DDX59	83479	broad.mit.edu	37	chr1	200628172	200628172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcatctactaccacaaTctttacaccacagagttcta	13	13	2	13	0	4	1	1	0	3	1	4	1	4	1	2	0	4	1	2	0	6	8			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:200628172T>C	ENST00000447706.2	-	4	1196	c.1045A>G	c.(1045-1047)Att>Gtt	p.I349V	DDX59_ENST00000331314.6_Missense_Mutation_p.I349V|DDX59_ENST00000367348.3_Missense_Mutation_p.I349V			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	349	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACTACCACAATCTTTACACCA	0.308													11	63					0	0	0	0	C	200628172	T	C	200628172	3	2	339	1	0	0	0	0	1	0	0	0	4408	1435	50	5	834	5	DDX59	1	200628172	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	2737473	200628172	48622449	51	63059											
SOX13	9580	broad.mit.edu	37	chr1	204092250	204092250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacctaggacctcatcaGcctggactcatccccagcca	10	7	7	17	0	4	0	4	0	0	0	5	2	5	2	6	2	3	0	6	2	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:204092250G>T	ENST00000367204.1	+	11	1254	c.1145G>T	c.(1144-1146)aGc>aTc	p.S382I		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	382					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GACCTCATCAGCCTGGACTCA	0.617													8	57					0.000157383	0.000199178	1	0	T	204092250	G	T	204092250	3	4	339	1	0	0	0	0	1	0	0	0	15032	971	34	4	1183	4	SOX13	1	204092250	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3464078	204092250	45158371	52	63060											
DSTYK	25778	broad.mit.edu	37	chr1	205119875	205119875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacatcatggcctctggCttgcagaatcctaagtcagt	9	11	9	12	0	3	2	2	1	1	1	4	2	4	2	3	2	1	2	3	2	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:205119875C>A	ENST00000367162.3	-	11	2430	c.2400G>T	c.(2398-2400)aaG>aaT	p.K800N	DSTYK_ENST00000367160.4_Missense_Mutation_p.K459N|DSTYK_ENST00000367161.3_Missense_Mutation_p.K800N	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	800	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TGGCCTCTGGCTTGCAGAATC	0.542													5	38					0.000602214	0.000724082	1	0	A	205119875	C	A	205119875	3	1	339	1	0	0	0	0	1	0	0	0	4821	796	28	4	401	4	DSTYK	1	205119875	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1027625	205119875	44130746	53	63061											
YOD1	55432	broad.mit.edu	37	chr1	207222688	207222688	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatcaattcttactgtctGtgtatccactacacatattt	11	16	4	10	1	3	0	1	0	2	0	4	1	4	0	1	0	2	1	1	0	5	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:207222688G>C	ENST00000367084.1	-	4	796	c.592C>G	c.(592-594)Cag>Gag	p.Q198E	YOD1_ENST00000391927.1_Missense_Mutation_p.Q198E|YOD1_ENST00000315927.4_Missense_Mutation_p.Q242E	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	242	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTTACTGTCTGTGTATCCACT	0.403													16	127					0	0	0	0	C	207222688	G	C	207222688	3	2	339	1	0	0	0	0	1	0	0	0	17584	1386	48	4	326	4	YOD1	1	207222688	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2102813	207222688	42027933	54	63062											
USH2A	7399	broad.mit.edu	37	chr1	216052385	216052385	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgagggtcaggcatgTgaatctcatagctaagtatg	11	12	13	5	0	2	3	2	3	1	0	3	3	2	3	0	2	1	3	0	2	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:216052385T>C	ENST00000366943.2	-	42	8665	c.8279A>G	c.(8278-8280)cAc>cGc	p.H2760R	USH2A_ENST00000307340.3_Missense_Mutation_p.H2760R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2760	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCAGGCATGTGAATCTCATA	0.398										HNSCC(13;0.011)			13	92					0	0	0	0	C	216052385	T	C	216052385	3	2	339	1	0	0	0	0	1	0	0	0	17132	1696	59	5	7453	5	USH2A	1	216052385	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	8829697	216052385	33198236	55	63063											
AGT	183	broad.mit.edu	37	chr1	230846521	230846521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagccaggccagcccaggCcaggaggcagaggatggtgg	9	3	18	11	0	0	1	0	0	0	1	0	3	0	3	4	7	3	2	4	7	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:230846521C>A	ENST00000366667.4	-	2	290	c.76G>T	c.(76-78)Gcc>Tcc	p.A26S	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	26					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CCAGCCCAGGCCAGGAGGCAG	0.592													7	46					8.12818e-05	0.000103873	1	0	A	230846521	C	A	230846521	3	1	339	1	0	0	0	0	1	0	0	0	399	739	26	4	1397	4	AGT	1	230846521	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	14794136	230846521	18404100	56	63064											
ARID4B	51742	broad.mit.edu	37	chr1	235377328	235377328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcatcttcatcttcttcttTattcgtttcatctcttgaaa	8	21	2	10	1	8	1	3	1	5	0	10	1	8	1	0	0	0	1	0	0	2	8			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:235377328T>C	ENST00000264183.3	-	17	2094	c.1597A>G	c.(1597-1599)Aaa>Gaa	p.K533E	ARID4B_ENST00000366603.2_Missense_Mutation_p.K533E|ARID4B_ENST00000349213.3_Intron	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	533	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.K533E(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			tcttcttcttTATTCGTTTCA	0.348													5	57					0	0	0	0	C	235377328	T	C	235377328	3	2	339	1	0	0	0	0	1	0	0	0	922	1763	61	5	2373	5	ARID4B	1	235377328	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	4530807	235377328	13873293	57	63065											
ACTN2	88	broad.mit.edu	37	chr1	236924444	236924444	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgccgagcaggtcatcGcctccttccggatcctggct	6	9	10	16	3	1	0	1	0	0	0	5	2	4	1	5	3	2	2	5	3	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:236924444G>C	ENST00000366578.4	+	20	2663	c.2497G>C	c.(2497-2499)Gcc>Ccc	p.A833P	ACTN2_ENST00000546208.1_Missense_Mutation_p.A327P|ACTN2_ENST00000542672.1_Missense_Mutation_p.A833P	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	833					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.A833S(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCAGGTCATCGCCTCCTTCCG	0.517													8	30					0	0	0	0	C	236924444	G	C	236924444	3	2	339	1	0	0	0	0	1	0	0	0	205	1087	38	3	2575	3	ACTN2	1	236924444	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1547116	236924444	12326177	58	63066											
FMN2	56776	broad.mit.edu	37	chr1	240370353	240370353	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgaaatcgatacagacttcCcccacggaagagggcggggt	11	5	14	11	4	0	2	0	0	0	2	2	5	1	3	2	4	1	0	2	4	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:240370353C>A	ENST00000319653.9	+	5	2471	c.2241C>A	c.(2239-2241)tcC>tcA	p.S747S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	747					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACAGACTTCCCCCACGGAAG	0.567													7	21					2.7689e-08	4.35316e-08	1	0	A	240370353	C	A	240370353	2	1	339	1	0	0	0	0	0	0	0	1	5995	610	22	4		4	FMN2	1	240370353	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3445909	240370353	8880268	59	63067											
GREM2	64388	broad.mit.edu	37	chr1	240656763	240656763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaacaaggacagggaaaGcttccagaacatcctgcaaa	17	4	10	10	0	0	1	0	0	0	1	2	4	2	4	2	3	4	2	2	3	5	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:240656763G>T	ENST00000318160.4	-	2	279	c.13C>A	c.(13-15)Ctt>Att	p.L5I		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	5					BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GACAGGGAAAGCTTCCAGAAC	0.542													3	15					0.004672	0.00530382	1	0	T	240656763	G	T	240656763	3	4	339	1	0	0	0	0	1	0	0	0	6812	971	34	4	497	4	GREM2	1	240656763	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	286410	240656763	8593858	60	63068											
OR2B11	127623	broad.mit.edu	37	chr1	247614723	247614723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacacgacagcttgatcaCggccggcacctcacagaaaa	14	4	9	14	3	2	2	2	1	0	1	2	3	2	2	2	2	2	3	2	2	2	1	rs147839044	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:247614723C>A	ENST00000318749.6	-	1	585	c.562G>T	c.(562-564)Gtg>Ttg	p.V188L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGCTTGATCACGGCCGGCACC	0.582													6	38					3.59834e-05	4.78558e-05	1	0	A	247614723	C	A	247614723	3	1	339	1	0	0	0	0	1	0	0	0	11059	536	19	3	394	3	OR2B11	1	247614723	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	6957960	247614723	1635898	61	63069											
OR2W5	441932	broad.mit.edu	37	chr1	247655379	247655379	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctggggagcctcaacgaGgggaacactctagtaatgta	11	7	15	8	1	2	0	1	0	1	0	2	3	2	2	1	5	3	3	1	5	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:247655379G>A	ENST00000522351.1	+	0	1010							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCCTCAACGAGGGGAACACTC	0.498													6	55					0	0	0	0	A	247655379	G	A	247655379	1	1	339	0	1	0	0	0	0	0	0	0	11105	1000	35	4		4	OR2W5	1	247655379	RNA	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	40656	247655379	1595242	62	63070											
OR2G3	81469	broad.mit.edu	37	chr1	247769226	247769226	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgggctccactgaatgtatCctcttggctgacatggcctt	6	13	10	12	0	1	2	0	2	1	0	3	2	3	2	3	3	0	3	3	3	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:247769226C>T	ENST00000320002.2	+	1	371	c.339C>T	c.(337-339)atC>atT	p.I113I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGAATGTATCCTCTTGGCTG	0.488													28	127					0	0	0	0	T	247769226	C	T	247769226	2	4	339	1	0	0	0	0	0	0	0	1	11070	845	30	2		2	OR2G3	1	247769226	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	113847	247769226	1481395	63	63071											
OR1C1	26188	broad.mit.edu	37	chr1	247920913	247920913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcgctctcaggcatatGgggggatgaagggctgaaat	10	9	16	6	1	1	2	1	2	1	0	3	3	1	3	0	5	0	3	0	5	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:247920913G>A	ENST00000408896.2	-	1	1069	c.796C>T	c.(796-798)Cat>Tat	p.H266Y		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCAGGCATATGGGGGGATGAA	0.517													10	43					0	0	0	0	A	247920913	G	A	247920913	3	1	339	1	0	0	0	0	1	0	0	0	11023	1348	47	4	150	4	OR1C1	1	247920913	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	151687	247920913	1329708	64	63072											
OR2M2	391194	broad.mit.edu	37	chr1	248344306	248344306	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctatgatgtcaaaatacTagcattgattatgtacattg	13	17	6	5	0	2	2	1	2	1	0	2	2	2	2	0	0	3	2	0	0	7	8			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:248344306T>C	ENST00000359682.2	+	1	1019	c.1019T>C	c.(1018-1020)cTa>cCa	p.L340P		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	340					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTCAAAATACTAGCATTGATT	0.284													10	87					0	0	0	0	C	248344306	T	C	248344306	3	2	339	1	0	0	0	0	1	0	0	0	11081	1522	53	5	1021	5	OR2M2	1	248344306	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	423393	248344306	906315	65	63073											
OR2T11	127077	broad.mit.edu	37	chr1	248789670	248789670	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggggcagcacgtatgtgtAgaaggcagccccatagaaga	12	6	14	9	1	0	3	0	0	0	3	0	3	0	3	2	3	2	5	2	3	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:248789670A>T	ENST00000330803.2	-	1	821	c.760T>A	c.(760-762)Tac>Aac	p.Y254N		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACGTATGTGTAGAAGGCAGCC	0.522													7	50					0	0	0	0	T	248789670	A	T	248789670	3	4	339	1	0	0	0	0	1	0	0	0	11089	420	15	5	194	5	OR2T11	1	248789670	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	445364	248789670	460951	66	63074											
SNTG2	54221	broad.mit.edu	37	chr2	1271305	1271305	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccatgtgggagaagtccTtccaaagagccacgttcatg	10	9	12	10	1	1	2	1	0	0	2	3	3	3	2	4	2	1	1	4	2	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:1271305T>A	ENST00000308624.5	+	14	1375	c.1246T>A	c.(1246-1248)Ttc>Atc	p.F416I	SNTG2_ENST00000407292.1_Missense_Mutation_p.F289I	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	416	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GGAGAAGTCCTTCCAAAGAGC	0.547													3	12					0	0	0	0	A	1271305	T	A	1271305	3	1	339	1	0	0	0	0	1	0	0	0	14963	1609	56	5	1300	5	SNTG2	2	1271305	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08		1271305	241928068	67	63075											
RNASEH1	246243	broad.mit.edu	37	chr2	3596679	3596679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctttggtttgtctgccgcCcaggaagtctaatgcctaca	7	13	9	12	1	3	0	0	0	3	0	3	1	3	1	3	2	3	1	3	2	3	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:3596679C>A	ENST00000315212.3	-	5	888	c.533G>T	c.(532-534)gGg>gTg	p.G178V		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	178	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TGTCTGCCGCCCAGGAAGTCT	0.318													7	102					0.00198382	0.00229771	1	0	A	3596679	C	A	3596679	3	1	339	1	0	0	0	0	1	0	0	0	13496	623	22	4	343	4	RNASEH1	2	3596679	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2325374	3596679	239602694	68	63076											
RSAD2	91543	broad.mit.edu	37	chr2	7035912	7035912	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttatgaattttctagatgCgctttctgaactgtagaaag	11	16	9	5	1	2	4	0	2	2	2	2	4	2	4	0	0	2	3	0	0	6	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:7035912C>G	ENST00000382040.3	+	6	1061	c.925C>G	c.(925-927)Cgc>Ggc	p.R309G	RSAD2_ENST00000541728.1_Missense_Mutation_p.R202G	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	309					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	p.R309S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TTTCTAGATGCGCTTTCTGAA	0.368													3	24					0	0	0	0	G	7035912	C	G	7035912	3	3	339	1	0	0	0	0	1	0	0	0	13780	768	27	3	947	3	RSAD2	2	7035912	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3439233	7035912	236163461	69	63077											
KIDINS220	57498	broad.mit.edu	37	chr2	8890400	8890400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcgccctaggaggaccctCatgtagagggagcggggggt	7	6	19	9	2	1	1	1	0	0	1	1	4	1	4	2	7	1	1	2	7	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:8890400C>G	ENST00000256707.3	-	24	3437	c.3256G>C	c.(3256-3258)Gag>Cag	p.E1086Q	KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1086Q|KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1086Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.E1044Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1086					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGAGGACCCTCATGTAGAGGG	0.582													5	40					0	0	0	0	G	8890400	C	G	8890400	3	3	339	1	0	0	0	0	1	0	0	0	8322	835	29	2	2087	2	KIDINS220	2	8890400	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1854488	8890400	234308973	70	63078											
APOB	338	broad.mit.edu	37	chr2	21231683	21231683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatatatctggaacgggcCactgcagctcactgttcagc	10	10	10	11	1	3	0	2	0	1	0	3	2	3	1	1	2	4	3	1	2	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:21231683C>A	ENST00000233242.1	-	26	8184	c.8057G>T	c.(8056-8058)tGg>tTg	p.W2686L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2686					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.W2686*(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGAACGGGCCACTGCAGCTC	0.443													11	147					1.58986e-06	2.32014e-06	1	0	A	21231683	C	A	21231683	3	1	339	1	0	0	0	0	1	0	0	0	787	595	21	4	5650	4	APOB	2	21231683	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	12341283	21231683	221967690	71	63079											
APOB	338	broad.mit.edu	37	chr2	21234969	21234969	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtgcattttgcttagagaAggtcatatccatcttgttag	10	15	9	7	0	2	1	1	0	1	1	3	2	3	1	1	1	2	3	1	1	4	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:21234969A>T	ENST00000233242.1	-	26	4898	c.4771T>A	c.(4771-4773)Ttc>Atc	p.F1591I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1591					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCTTAGAGAAGGTCATATCC	0.413													7	49					0	0	0	0	T	21234969	A	T	21234969	3	4	339	1	0	0	0	0	1	0	0	0	787	72	3	5	8936	5	APOB	2	21234969	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	3286	21234969	221964404	72	63080											
DPYSL5	56896	broad.mit.edu	37	chr2	27157445	27157445	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgacctttcttcttccaGggaaggttgtgctggcggag	5	14	13	9	1	3	1	0	1	3	0	4	3	4	3	2	4	1	2	2	4	1	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:27157445G>T	ENST00000288699.6	+	8	948		c.e8-1		DPYSL5_ENST00000401478.1_Splice_Site	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5						axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTTCCAGGGAAGGTTGT	0.567													22	99					4.35082e-09	6.98421e-09	1	0	T	27157445	G	T	27157445	5	4	339	1	0	0	0	0	0	0	1	0	4786	1014	35	4	816	4	DPYSL5	2	27157445	Splice_Site	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	5922476	27157445	216041928	73	63081											
GCKR	2646	broad.mit.edu	37	chr2	27746223	27746223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagctccttctgtctgtGaggctgtcaggagtgctctt	4	14	12	11	0	4	1	1	1	3	0	5	2	5	2	1	2	3	4	1	2	0	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:27746223G>A	ENST00000264717.2	+	19	1858	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K	GCKR_ENST00000424318.2_Missense_Mutation_p.E409K	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	599					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTCTGTCTGTGAGGCTGTCAG	0.597													4	27					0	0	0	0	A	27746223	G	A	27746223	3	1	339	1	0	0	0	0	1	0	0	0	6343	1291	45	2	1869	2	GCKR	2	27746223	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	588778	27746223	215453150	74	63082											
LBH	81606	broad.mit.edu	37	chr2	30480387	30480387	+	Missense_Mutation	SNP	T	T	A																															ggaacccacagaaggggaggTggagagcggggagctccggt																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:30480387T>A	ENST00000395323.3	+	3	426	c.218T>A	c.(217-219)gTg>gAg	p.V73E	LBH_ENST00000407930.2_Missense_Mutation_p.V56E|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.V79E|LBH_ENST00000404397.1_Intron|LBH_ENST00000406087.1_3'UTR	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	73					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					GAAGGGGAGGTGGAGAGCGGG	0.547													8	38					0	0	0	0	A	30480387	T	A	30480387	3	1	339	1	0	0	0	0	1	0	0	0	8703	1696	59	5	228	5	LBH	2	30480387	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	2734164	30480387	212718986	75	63083	755	2									
LBH	81606	broad.mit.edu	37	chr2	30480389	30480389	+	Missense_Mutation	SNP	G	G	A																															aacccacagaaggggaggtgGagagcggggagctccggtgg																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:30480389G>A	ENST00000395323.3	+	3	428	c.220G>A	c.(220-222)Gag>Aag	p.E74K	LBH_ENST00000407930.2_Missense_Mutation_p.E57K|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.E80K|LBH_ENST00000404397.1_Intron|LBH_ENST00000406087.1_3'UTR	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	74					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					AGGGGAGGTGGAGAGCGGGGA	0.547													8	38					0	0	0	0	A	30480389	G	A	30480389	3	1	339	1	0	0	0	0	1	0	0	0	8703	1175	41	2	230	2	LBH	2	30480389	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2	30480389	212718984	76	63084	755	2									
LTBP1	4052	broad.mit.edu	37	chr2	33498785	33498785	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactgcattaacctaccaGtgagatatacctgtatatgc	13	11	7	10	0	0	1	0	1	0	1	0	3	0	1	3	0	5	2	3	0	6	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:33498785G>C	ENST00000404816.2	+	16	3033	c.2680G>C	c.(2680-2682)Gtg>Ctg	p.V894L	LTBP1_ENST00000390003.4_Missense_Mutation_p.V569L|LTBP1_ENST00000418533.2_Missense_Mutation_p.V568L|LTBP1_ENST00000402934.1_Missense_Mutation_p.V515L|LTBP1_ENST00000404525.1_Missense_Mutation_p.V515L|LTBP1_ENST00000407925.1_Missense_Mutation_p.V568L|LTBP1_ENST00000354476.3_Missense_Mutation_p.V895L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	894	EGF-like 4; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAACCTACCAGTGAGATATAC	0.358													4	32					0	0	0	0	C	33498785	G	C	33498785	3	2	339	1	0	0	0	0	1	0	0	0	9137	1029	36	4	2797	4	LTBP1	2	33498785	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3018396	33498785	209700588	77	63085											
RASGRP3	25780	broad.mit.edu	37	chr2	33783350	33783350	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggagatttgcccgggcgcCctccttgagcagtggtcatg	6	9	14	12	2	1	2	1	1	0	1	2	3	2	2	3	3	2	1	3	3	0	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:33783350C>G	ENST00000403687.3	+	16	2392	c.1652C>G	c.(1651-1653)cCc>cGc	p.P551R	AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000407811.1_Missense_Mutation_p.P550R|RASGRP3_ENST00000402538.3_Missense_Mutation_p.P551R	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	551					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GCCCGGGCGCCCTCCTTGAGC	0.567													3	16					0	0	0	0	G	33783350	C	G	33783350	3	3	339	1	0	0	0	0	1	0	0	0	13158	623	22	4	1706	4	RASGRP3	2	33783350	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	284565	33783350	209416023	78	63086											
LHCGR	3973	broad.mit.edu	37	chr2	48915725	48915725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagccccatgcaaaagtctGcaaaggagagattgcacatg	15	6	11	9	0	1	2	0	0	1	2	1	4	1	3	2	1	4	3	2	1	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:48915725G>A	ENST00000294954.7	-	11	1232	c.1211C>T	c.(1210-1212)gCa>gTa	p.A404V	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.A342V|LHCGR_ENST00000405626.1_Missense_Mutation_p.A377V	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	404					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GCAAAAGTCTGCAAAGGAGAG	0.458													6	50					0	0	0	0	A	48915725	G	A	48915725	3	1	339	1	0	0	0	0	1	0	0	0	8816	1319	46	4	892	4	LHCGR	2	48915725	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	15132375	48915725	194283648	79	63087											
NRXN1	9378	broad.mit.edu	37	chr2	50280412	50280412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaatccacaggctcacctgGctaatgggttcttttgtcgg	9	12	10	10	1	2	0	1	0	1	0	4	0	3	0	2	4	0	3	2	4	3	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:50280412G>T	ENST00000404971.1	-	22	5584	c.4245C>A	c.(4243-4245)agC>agA	p.S1415R	NRXN1_ENST00000406316.2_Missense_Mutation_p.S1345R|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1345R|NRXN1_ENST00000401710.1_Missense_Mutation_p.S363R|NRXN1_ENST00000342183.5_Missense_Mutation_p.S310R|NRXN1_ENST00000405472.3_Missense_Mutation_p.S1367R|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1375R|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1367R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1345					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCTCACCTGGCTAATGGGTT	0.423													10	60					4.68919e-08	7.32186e-08	1	0	T	50280412	G	T	50280412	3	4	339	1	0	0	0	0	1	0	0	0	10736	1194	42	4	410	4	NRXN1	2	50280412	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1364687	50280412	192918961	80	63088											
NRXN1	9378	broad.mit.edu	37	chr2	50765424	50765424	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccaagatagcctgttcCggaacaatcacagacatatc	13	8	7	13	1	1	2	1	0	0	2	3	3	2	3	4	1	3	1	4	1	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:50765424C>A	ENST00000404971.1	-	11	3569	c.2230G>T	c.(2230-2232)Gga>Tga	p.G744*	NRXN1_ENST00000406316.2_Nonsense_Mutation_p.G704*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G704*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G696*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G704*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G696*|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	704	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAGCCTGTTCCGGAACAATCA	0.463													33	134					1.06801e-11	1.77678e-11	1	0	A	50765424	C	A	50765424	4	1	339	1	0	0	0	0	0	1	0	0	10736	661	23	3	2732	3	NRXN1	2	50765424	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	485012	50765424	192433949	81	63089											
CCDC85A	114800	broad.mit.edu	37	chr2	56419951	56419951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaccgcaccctacgtgcggGatgtgggtgacggcagcagc	7	5	15	14	4	0	1	0	1	0	0	0	2	0	2	3	3	4	3	3	3	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:56419951G>A	ENST00000407595.2	+	2	1118	c.616G>A	c.(616-618)Gat>Aat	p.D206N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	206										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTACGTGCGGGATGTGGGTGA	0.667													5	44					0	0	0	0	A	56419951	G	A	56419951	3	1	339	1	0	0	0	0	1	0	0	0	2886	1174	41	2	622	2	CCDC85A	2	56419951	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	5654527	56419951	186779422	82	63090											
CEP68	23177	broad.mit.edu	37	chr2	65299049	65299049	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctccttccaggctgagtaCtgggcctgtgtgctgccaga	5	11	12	13	0	1	2	0	1	1	1	3	2	2	2	4	2	3	3	4	2	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:65299049C>A	ENST00000377990.2	+	3	1022	c.819C>A	c.(817-819)taC>taA	p.Y273*	CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Nonsense_Mutation_p.Y273*|CEP68_ENST00000546106.1_Nonsense_Mutation_p.Y273*	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	273					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGGCTGAGTACTGGGCCTGTG	0.582													12	74					6.40141e-05	8.32002e-05	1	0	A	65299049	C	A	65299049	4	1	339	1	0	0	0	0	0	1	0	0	3287	576	20	4	825	4	CEP68	2	65299049	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	8879098	65299049	177900324	83	63091											
PROKR1	10887	broad.mit.edu	37	chr2	68873003	68873003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatgccaccaacacttccaCcagcttcctttctgtgctca	9	11	4	17	0	2	0	1	0	1	0	4	0	4	0	5	0	4	2	5	0	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:68873003C>A	ENST00000303786.3	+	2	470	c.50C>A	c.(49-51)aCc>aAc	p.T17N	PROKR1_ENST00000394342.2_Missense_Mutation_p.T17N			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	17						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AACACTTCCACCAGCTTCCTT	0.522													8	92					1.12685e-05	1.55281e-05	1	0	A	68873003	C	A	68873003	3	1	339	1	0	0	0	0	1	0	0	0	12632	507	18	4	52	4	PROKR1	2	68873003	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3573954	68873003	174326370	84	63092											
LOXL3	84695	broad.mit.edu	37	chr2	74761258	74761258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttcctggcttcacatccGtgatgtcaatccactgacag	9	12	8	12	1	2	2	2	2	0	0	5	2	5	2	3	1	0	2	3	1	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:74761258G>T	ENST00000264094.3	-	12	2116	c.2045C>A	c.(2044-2046)aCg>aAg	p.T682K	LOXL3_ENST00000409549.1_Missense_Mutation_p.T626K|LOXL3_ENST00000393937.2_Missense_Mutation_p.T537K|LOXL3_ENST00000409986.1_Missense_Mutation_p.T537K|LOXL3_ENST00000409249.1_Missense_Mutation_p.T400K	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	682	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTTCACATCCGTGATGTCAAT	0.522													5	51					0.184627	0.188964	1	0	T	74761258	G	T	74761258	3	4	339	1	0	0	0	0	1	0	0	0	8965	1145	40	3	228	3	LOXL3	2	74761258	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	5888255	74761258	168438115	85	63093											
CTNNA2	1496	broad.mit.edu	37	chr2	80801427	80801427	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggacatcagaaaggctgtGctgatgatcagggtatgtga	11	9	15	6	1	2	4	2	3	0	1	2	5	2	5	0	3	1	3	0	3	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:80801427G>T	ENST00000466387.1	+	17	2605	c.1881G>T	c.(1879-1881)gtG>gtT	p.V627V	CTNNA2_ENST00000541047.1_Silent_p.V627V|CTNNA2_ENST00000361291.4_Silent_p.V661V|CTNNA2_ENST00000343114.3_Silent_p.V306V|CTNNA2_ENST00000540488.1_Silent_p.V627V|CTNNA2_ENST00000496558.1_Silent_p.V627V|CTNNA2_ENST00000402739.4_Silent_p.V627V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	627					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAAAGGCTGTGCTGATGATCA	0.463													5	71					0.000602214	0.000724082	1	0	T	80801427	G	T	80801427	2	4	339	1	0	0	0	0	0	0	0	1	4045	1306	46	4		4	CTNNA2	2	80801427	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	6040169	80801427	162397946	86	63094											
ST3GAL5	8869	broad.mit.edu	37	chr2	86071517	86071517	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgagtagcaacaaaaatAccttatctcggccccagaac	14	9	6	12	1	1	2	0	1	1	1	2	2	1	2	3	1	4	2	3	1	7	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:86071517A>G	ENST00000377332.3	-	6	1117		c.e6+1		ST3GAL5_ENST00000393808.3_Splice_Site|ST3GAL5_ENST00000393805.1_Splice_Site	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5						ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						CAACAAAAATACCTTATCTCG	0.423													6	28					0	0	0	0	G	86071517	A	G	86071517	5	3	339	1	0	0	0	0	0	0	1	0	15308	405	14	5	254	5	ST3GAL5	2	86071517	Splice_Site	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	5270090	86071517	157127856	87	63095											
PDCL3	79031	broad.mit.edu	37	chr2	101185443	101185443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctggaggatcatgaagacGagtttaatgaggaggatgaa	15	8	15	3	1	1	4	1	3	0	1	1	9	1	8	0	4	1	2	0	4	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:101185443G>A	ENST00000264254.6	+	3	562	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	62					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TCATGAAGACGAGTTTAATGA	0.363													4	45					0	0	0	0	A	101185443	G	A	101185443	3	1	339	1	0	0	0	0	1	0	0	0	11699	1059	37	1	194	1	PDCL3	2	101185443	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	15113926	101185443	142013930	88	63096											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460128	107460128	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttatgttcaaacccatcttgGgactgggcccatttctgcag	8	13	9	11	0	3	0	1	0	2	0	3	1	3	1	2	2	2	2	2	2	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:107460128G>T	ENST00000409382.3	-	2	916	c.306C>A	c.(304-306)tcC>tcA	p.S102S	ST6GAL2_ENST00000409087.3_Silent_p.S102S|ST6GAL2_ENST00000361686.4_Silent_p.S102S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	102					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.S102S(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACCCATCTTGGGACTGGGCCC	0.587													7	70					5.18039e-06	7.32621e-06	1	0	T	107460128	G	T	107460128	2	4	339	1	0	0	0	0	0	0	0	1	15312	1219	43	4		4	ST6GAL2	2	107460128	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	6274685	107460128	135739245	89	63097											
NPHP1	4867	broad.mit.edu	37	chr2	110927450	110927450	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgtattcttcaccggttGaccatttgtgagattcattt	8	17	8	8	2	3	2	2	2	1	1	3	4	3	2	2	1	0	2	2	1	1	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:110927450G>T	ENST00000316534.4	-	5	528	c.455C>A	c.(454-456)tCa>tAa	p.S152*	NPHP1_ENST00000393272.3_Nonsense_Mutation_p.S152*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.S152*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.S90*|NPHP1_ENST00000445609.2_Nonsense_Mutation_p.S152*			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	152	SH3.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTCACCGGTTGACCATTTGTG	0.418													4	34					0.00024832	0.000309133	1	0	T	110927450	G	T	110927450	4	4	339	1	0	0	0	0	0	1	0	0	10649	1294	45	2	1810	2	NPHP1	2	110927450	Nonsense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3467322	110927450	132271923	90	63098											
PSD4	23550	broad.mit.edu	37	chr2	113950127	113950127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgcctctatcgcctggaggGcttccggaagtctgaagtgg	7	9	14	11	3	2	1	0	1	2	0	4	3	3	3	3	4	0	1	3	4	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:113950127G>A	ENST00000245796.6	+	6	1994	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D	PSD4_ENST00000441564.2_Missense_Mutation_p.G572D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	600	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCTGGAGGGCTTCCGGAAG	0.592													4	52					0	0	0	0	A	113950127	G	A	113950127	3	1	339	1	0	0	0	0	1	0	0	0	12728	1203	42	4	1817	4	PSD4	2	113950127	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3022677	113950127	129249246	91	63099											
DPP10	57628	broad.mit.edu	37	chr2	116593793	116593793	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaagctttttaaatgtGgatccgtggttgcacctatc	11	14	9	7	1	0	1	0	1	0	0	2	2	1	2	2	2	2	3	2	2	5	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:116593793G>T	ENST00000410059.1	+	22	2491	c.2011G>T	c.(2011-2013)Gga>Tga	p.G671*	DPP10_ENST00000310323.8_Nonsense_Mutation_p.G664*|DPP10_ENST00000409163.1_Nonsense_Mutation_p.G621*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.G675*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	671					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTTAAATGTGGATCCGTGGT	0.338													4	18					0.014758	0.0159053	1	0	T	116593793	G	T	116593793	4	4	339	1	0	0	0	0	0	1	0	0	4763	1349	47	4	2268	4	DPP10	2	116593793	Nonsense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2643666	116593793	126605580	92	63100											
C1QL2	165257	broad.mit.edu	37	chr2	119914425	119914425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacgtgctgtacttgttatTattgcctccgtgagccttcc	6	15	9	11	2	0	1	0	1	0	0	2	2	2	1	4	0	5	3	4	0	4	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:119914425T>C	ENST00000272520.3	-	2	1436	c.817A>G	c.(817-819)Aat>Gat	p.N273D		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	273	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TACTTGTTATTATTGCCTCCG	0.617										HNSCC(49;0.14)			6	70					0	0	0	0	C	119914425	T	C	119914425	3	2	339	1	0	0	0	0	1	0	0	0	1978	1754	61	5	50	5	C1QL2	2	119914425	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	3320632	119914425	123284948	93	63101											
EPB41L5	57669	broad.mit.edu	37	chr2	120834636	120834636	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagactgaagagatggaaCtggctatttttgagaaatgg	13	12	12	4	0	1	4	1	2	0	3	1	7	1	5	0	3	1	1	0	3	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:120834636C>G	ENST00000263713.5	+	8	809	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V	EPB41L5_ENST00000452780.1_Missense_Mutation_p.L199V|EPB41L5_ENST00000443902.2_Missense_Mutation_p.L199V|EPB41L5_ENST00000443124.1_Missense_Mutation_p.L199V|EPB41L5_ENST00000331393.4_Missense_Mutation_p.L199V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	199	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGAGATGGAACTGGCTATTTT	0.373													6	74					0	0	0	0	G	120834636	C	G	120834636	3	3	339	1	0	0	0	0	1	0	0	0	5195	564	20	4	621	4	EPB41L5	2	120834636	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	920211	120834636	122364737	94	63102											
TSN	7247	broad.mit.edu	37	chr2	122522771	122522771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgacccctccacatctccaCcttcatcaatgagctggatt	9	10	5	17	1	3	1	2	1	1	0	5	3	4	2	6	1	1	1	6	1	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:122522771C>G	ENST00000389682.3	+	6	762	c.515C>G	c.(514-516)aCc>aGc	p.T172S	TSN_ENST00000536142.1_Missense_Mutation_p.H145Q|TSN_ENST00000498545.1_3'UTR|TSN_ENST00000409193.1_Missense_Mutation_p.T167S	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	172					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				CACATCTCCACCTTCATCAAT	0.493													9	171					0	0	0	0	G	122522771	C	G	122522771	3	3	339	1	0	0	0	0	1	0	0	0	16724	507	18	4	537	4	TSN	2	122522771	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1688135	122522771	120676602	95	63103											
CNTNAP5	129684	broad.mit.edu	37	chr2	125367480	125367480	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactgggacctctccaggTgtactgcaatatcactggta	9	10	9	13	0	2	0	1	0	1	0	3	1	2	1	3	3	2	3	3	3	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:125367480T>A	ENST00000431078.1	+	12	2220	c.1856T>A	c.(1855-1857)gTg>gAg	p.V619E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	619	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTCTCCAGGTGTACTGCAAT	0.527													4	37					0	0	0	0	A	125367480	T	A	125367480	3	1	339	1	0	0	0	0	1	0	0	0	3680	1696	59	5	1902	5	CNTNAP5	2	125367480	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	2844709	125367480	117831893	96	63104											
ERCC3	2071	broad.mit.edu	37	chr2	128030530	128030530	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgagacgtaggtccgtagaTatagggtctagagaagaatg	13	9	14	5	2	1	4	0	1	1	4	2	6	2	4	1	2	0	2	1	2	7	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:128030530T>C	ENST00000493187.2	-	11	2009	c.1546A>G	c.(1546-1548)Atc>Gtc	p.I516V	ERCC3_ENST00000285398.2_Missense_Mutation_p.I580V			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	580					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGTCCGTAGATATAGGGTCTA	0.433			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	32					0	0	0	0	C	128030530	T	C	128030530	3	2	339	1	0	0	0	0	1	0	0	0	5252	1406	49	5	630	5	ERCC3	2	128030530	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	2663050	128030530	115168843	97	63105											
UGGT1	56886	broad.mit.edu	37	chr2	128865619	128865619	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccttcgttcttactcaGctacaatccaagccttccag	8	13	5	15	1	2	0	1	0	1	0	6	0	5	0	4	0	4	2	4	0	4	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:128865619G>C	ENST00000375990.3	+	4	716	c.313G>C	c.(313-315)Gct>Cct	p.A105P	UGGT1_ENST00000259253.6_Missense_Mutation_p.A129P			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	129					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTCTTACTCAGCTACAATCCA	0.428													5	59					0	0	0	0	C	128865619	G	C	128865619	3	2	339	1	0	0	0	0	1	0	0	0	17037	971	34	4	399	4	UGGT1	2	128865619	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	835089	128865619	114333754	98	63106											
GPR148	344561	broad.mit.edu	37	chr2	131486858	131486858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgggggacctcagggtgcCcagctccatgctgtactggc	5	8	14	14	0	1	0	1	0	0	0	2	1	2	1	4	4	4	3	4	4	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:131486858C>A	ENST00000309926.4	+	1	216	c.134C>A	c.(133-135)cCc>cAc	p.P45H		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	45				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTCAGGGTGCCCAGCTCCATG	0.622													5	57					0.000602214	0.000724082	1	0	A	131486858	C	A	131486858	3	1	339	1	0	0	0	0	1	0	0	0	6702	623	22	4	136	4	GPR148	2	131486858	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2621239	131486858	111712515	99	63107											
LRP1B	53353	broad.mit.edu	37	chr2	141115556	141115556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacaagctcacctattctgCatccttgctcatctgaacca	12	11	4	14	0	4	1	2	1	2	0	5	1	5	1	3	0	5	3	3	0	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:141115556C>A	ENST00000389484.3	-	74	12358	c.11387G>T	c.(11386-11388)tGc>tTc	p.C3796F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3796	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCTATTCTGCATCCTTGCTC	0.403										TSP Lung(27;0.18)			6	52					0.00116845	0.00137597	1	0	A	141115556	C	A	141115556	3	1	339	1	0	0	0	0	1	0	0	0	9019	710	25	4	2484	4	LRP1B	2	141115556	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	9628698	141115556	102083817	100	63108											
LRP1B	53353	broad.mit.edu	37	chr2	141245234	141245234	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatttatgcgactgccattGggtcggctagaatcgatcca	9	12	10	10	3	0	1	0	0	0	1	3	3	1	1	2	2	2	1	2	2	4	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:141245234G>T	ENST00000389484.3	-	58	10166	c.9195C>A	c.(9193-9195)ccC>ccA	p.P3065P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3065					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACTGCCATTGGGTCGGCTAG	0.318										TSP Lung(27;0.18)			4	31					0.00909568	0.00997907	1	0	T	141245234	G	T	141245234	2	4	339	1	0	0	0	0	0	0	0	1	9019	1335	47	4		4	LRP1B	2	141245234	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	129678	141245234	101954139	101	63109											
MBD5	55777	broad.mit.edu	37	chr2	149226129	149226129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacagagattgggcagcaGtgaacatggacagaaatctc	14	6	12	9	1	1	3	0	1	1	2	2	6	1	4	1	2	2	2	1	2	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:149226129G>A	ENST00000407073.1	+	9	1614	c.617G>A	c.(616-618)aGt>aAt	p.S206N	MBD5_ENST00000404807.1_Missense_Mutation_p.S206N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	206						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTGGGCAGCAGTGAACATGGA	0.522													5	86					0	0	0	0	A	149226129	G	A	149226129	3	1	339	1	0	0	0	0	1	0	0	0	9416	1029	36	4	631	4	MBD5	2	149226129	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	7980895	149226129	93973244	102	63110											
KIF5C	3800	broad.mit.edu	37	chr2	149857292	149857292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaagggctggaggagaCagtggtatgtcaagatattt	12	10	13	6	0	2	2	2	0	0	2	2	4	2	3	1	4	0	2	1	4	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:149857292C>G	ENST00000435030.1	+	21	2737	c.2369C>G	c.(2368-2370)aCa>aGa	p.T790R	KIF5C_ENST00000414838.2_Missense_Mutation_p.T695R|KIF5C_ENST00000397413.1_Missense_Mutation_p.T558R|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	790					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTGGAGGAGACAGTGGTATGT	0.413													6	62					0	0	0	0	G	149857292	C	G	149857292	3	3	339	1	0	0	0	0	1	0	0	0	8358	478	17	4	2373	4	KIF5C	2	149857292	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	631163	149857292	93342081	103	63111											
CCDC148	130940	broad.mit.edu	37	chr2	159196817	159196817	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatgctgcaaagtgtgatgCtgtctgtattttagatctgc	9	15	11	6	0	2	2	0	1	2	1	2	3	2	2	0	0	4	4	0	0	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:159196817C>T	ENST00000283233.5	-	5	736	c.423G>A	c.(421-423)caG>caA	p.Q141Q	CCDC148_ENST00000409187.1_Silent_p.Q150Q|CCDC148_ENST00000409889.1_Silent_p.Q141Q|CCDC148_ENST00000536771.1_Silent_p.Q55Q	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	141										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AAGTGTGATGCTGTCTGTATT	0.348													11	44					0	0	0	0	T	159196817	C	T	159196817	2	4	339	1	0	0	0	0	0	0	0	1	2807	796	28	4		4	CCDC148	2	159196817	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	9339525	159196817	84002556	104	63112											
FIGN	55137	broad.mit.edu	37	chr2	164468078	164468078	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgtccgaatagttgctGagtacgggtcggtccacagg	7	10	16	8	3	0	1	0	1	0	0	3	2	2	1	2	4	2	3	2	4	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:164468078G>T	ENST00000333129.3	-	3	578	c.264C>A	c.(262-264)ctC>ctA	p.L88L	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	88						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AATAGTTGCTGAGTACGGGTC	0.458													12	134					0.38729	0.392437	1	0	T	164468078	G	T	164468078	2	4	339	1	0	0	0	0	0	0	0	1	5936	1277	45	2		2	FIGN	2	164468078	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	5271261	164468078	78731295	105	63113											
COBLL1	22837	broad.mit.edu	37	chr2	165586547	165586547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggttctgttcagctgaCaacagatcgattgtgtaact	10	14	10	7	1	2	2	1	1	1	1	3	3	2	2	0	1	3	4	0	1	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:165586547C>A	ENST00000375458.2	-	3	530	c.309G>T	c.(307-309)ttG>ttT	p.L103F	COBLL1_ENST00000409184.3_Missense_Mutation_p.L141F|COBLL1_ENST00000392717.2_Missense_Mutation_p.L141F|COBLL1_ENST00000342193.4_Missense_Mutation_p.L103F|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000194871.6_Missense_Mutation_p.L156F	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	141										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GTTCAGCTGACAACAGATCGA	0.338													10	48					1.58986e-06	2.32014e-06	1	0	A	165586547	C	A	165586547	3	1	339	1	0	0	0	0	1	0	0	0	3684	477	17	4	3239	4	COBLL1	2	165586547	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1118469	165586547	77612826	106	63114											
SCN3A	6328	broad.mit.edu	37	chr2	165997189	165997189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagttgtccagtaggtgacGttagagctgaaggtccaccc	10	9	13	9	1	0	3	0	2	0	1	2	4	2	3	3	2	1	4	3	2	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:165997189G>T	ENST00000360093.3	-	13	2482	c.1991C>A	c.(1990-1992)aCg>aAg	p.T664K	SCN3A_ENST00000283254.7_Missense_Mutation_p.T664K|SCN3A_ENST00000409101.3_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	664						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGTAGGTGACGTTAGAGCTGA	0.478													6	35					0.0293803	0.0311868	1	0	T	165997189	G	T	165997189	3	4	339	1	0	0	0	0	1	0	0	0	14005	1145	40	3	4075	3	SCN3A	2	165997189	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	410642	165997189	77202184	107	63115											
SCN2A	6326	broad.mit.edu	37	chr2	166188020	166188020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaatacactcttcatggCtatggagcactatcccatga	12	12	6	11	0	2	1	1	1	1	0	3	2	3	2	1	2	2	2	1	2	5	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:166188020C>T	ENST00000375437.2	+	14	2620	c.2330C>T	c.(2329-2331)gCt>gTt	p.A777V	SCN2A_ENST00000375427.2_Missense_Mutation_p.A777V|SCN2A_ENST00000357398.3_Missense_Mutation_p.A777V|SCN2A_ENST00000283256.6_Missense_Mutation_p.A777V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	777					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CTCTTCATGGCTATGGAGCAC	0.453													4	55					0	0	0	0	T	166188020	C	T	166188020	3	4	339	1	0	0	0	0	1	0	0	0	14003	797	28	4	2476	4	SCN2A	2	166188020	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	190831	166188020	77011353	108	63116											
SCN2A	6326	broad.mit.edu	37	chr2	166245398	166245398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagttgggatcgatgacatGttcaactttgagacctttgg	10	13	12	6	1	1	2	1	2	0	1	2	6	1	3	1	2	1	2	1	2	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:166245398G>T	ENST00000375437.2	+	27	5372	c.5082G>T	c.(5080-5082)atG>atT	p.M1694I	SCN2A_ENST00000375427.2_Missense_Mutation_p.M1694I|SCN2A_ENST00000357398.3_Missense_Mutation_p.M1694I|SCN2A_ENST00000283256.6_Missense_Mutation_p.M1694I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1694					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCGATGACATGTTCAACTTTG	0.448													23	142					1.9806e-07	3.03051e-07	1	0	T	166245398	G	T	166245398	3	4	339	1	0	0	0	0	1	0	0	0	14003	1377	48	4	5280	4	SCN2A	2	166245398	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	57378	166245398	76953975	109	63117											
XIRP2	129446	broad.mit.edu	37	chr2	168100627	168100627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagaagaaaaaggggatGttaggcatcaaaaatggatt	18	8	12	3	0	1	3	1	1	0	2	1	5	1	5	0	4	0	2	0	4	7	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:168100627G>T	ENST00000409195.1	+	9	2814	c.2725G>T	c.(2725-2727)Gtt>Ttt	p.V909F	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V687F|XIRP2_ENST00000295237.9_Missense_Mutation_p.V909F|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	734					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						AAAAGGGGATGTTAGGCATCA	0.358													6	50					0.0215528	0.0230114	1	0	T	168100627	G	T	168100627	3	4	339	1	0	0	0	0	1	0	0	0	17526	1377	48	4	2755	4	XIRP2	2	168100627	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1855229	168100627	75098746	110	63118											
XIRP2	129446	broad.mit.edu	37	chr2	168102625	168102625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaatcatcattgaagctGatgaaataggggatgttcga	13	11	12	5	1	2	3	2	3	0	0	3	6	2	5	0	3	1	2	0	3	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:168102625G>A	ENST00000409195.1	+	9	4812	c.4723G>A	c.(4723-4725)Gat>Aat	p.D1575N	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1353N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1575N|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1400					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						CATTGAAGCTGATGAAATAGG	0.363													10	46					0	0	0	0	A	168102625	G	A	168102625	3	1	339	1	0	0	0	0	1	0	0	0	17526	1290	45	2	4753	2	XIRP2	2	168102625	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1998	168102625	75096748	111	63119											
G6PC2	57818	broad.mit.edu	37	chr2	169763289	169763289	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttattcttggagtaattggtGgtaaatatgatcacttacct	11	17	8	5	0	2	1	1	1	1	0	2	2	2	2	1	3	1	2	1	3	6	8			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:169763289G>C	ENST00000375363.3	+	4	648	c.556_splice	c.e4+1	p.G186_splice	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000429379.2_Intron|G6PC2_ENST00000421979.1_Intron|G6PC2_ENST00000461586.1_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	186					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AGTAATTGGTGGTAAATATGA	0.358													5	59					0	0	0	0	C	169763289	G	C	169763289	5	2	339	1	0	0	0	0	0	0	1	0	6192	1362	47	4	570	4	G6PC2	2	169763289	Splice_Site	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1660664	169763289	73436084	112	63120											
G6PC2	57818	broad.mit.edu	37	chr2	169764185	169764185	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgtttgcagttggctttTacctgcttcttagggtgctc	3	18	10	10	0	1	0	0	0	1	0	3	0	2	0	2	2	4	6	2	2	2	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:169764185T>A	ENST00000375363.3	+	5	756	c.664T>A	c.(664-666)Tac>Aac	p.Y222N	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000429379.2_3'UTR|G6PC2_ENST00000421979.1_3'UTR|G6PC2_ENST00000461586.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	222					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AGTTGGCTTTTACCTGCTTCT	0.537													14	70					0	0	0	0	A	169764185	T	A	169764185	3	1	339	1	0	0	0	0	1	0	0	0	6192	1754	61	5	682	5	G6PC2	2	169764185	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	896	169764185	73435188	113	63121											
OLA1	29789	broad.mit.edu	37	chr2	174943776	174943776	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgaatcccttttcaaaatCtgtgtgaatctttcctgcag	11	15	6	9	0	3	2	1	2	2	0	5	2	5	2	2	0	1	1	2	0	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:174943776C>G	ENST00000284719.3	-	10	1255	c.1009G>C	c.(1009-1011)Gat>Cat	p.D337H	OLA1_ENST00000344357.5_Missense_Mutation_p.D179H|OLA1_ENST00000409546.1_Missense_Mutation_p.D357H|OLA1_ENST00000428402.2_Intron|OLA1_ENST00000392560.2_5'UTR	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	337					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TTTTCAAAATCTGTGTGAATC	0.348													6	17					0	0	0	0	G	174943776	C	G	174943776	3	3	339	1	0	0	0	0	1	0	0	0	10921	913	32	2	189	2	OLA1	2	174943776	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	5179591	174943776	68255597	114	63122											
KIAA1715	80856	broad.mit.edu	37	chr2	176812327	176812327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaactgtcctttggtggtCcaggagatactggaacttgt	9	12	12	8	0	0	2	0	0	0	2	2	4	2	3	2	4	3	0	2	4	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:176812327C>A	ENST00000272748.4	-	9	834	c.587G>T	c.(586-588)gGa>gTa	p.G196V	KIAA1715_ENST00000535310.1_Missense_Mutation_p.G121V|KIAA1715_ENST00000544803.1_Missense_Mutation_p.G196V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	196	Pro-rich.					integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CTTTGGTGGTCCAGGAGATAC	0.522													5	63					0.000602214	0.000724082	1	0	A	176812327	C	A	176812327	3	1	339	1	0	0	0	0	1	0	0	0	8305	855	30	2	719	2	KIAA1715	2	176812327	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1868551	176812327	66387046	115	63123											
TTN	7273	broad.mit.edu	37	chr2	179451302	179451302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccaacagcatttctggcCgctactctaaatttgtattt	10	15	5	11	1	2	0	0	0	2	0	3	0	3	0	2	1	3	3	2	1	5	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179451302C>T	ENST00000589042.1	-	308	64550	c.64326G>A	c.(64324-64326)gcG>gcA	p.A21442A	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.A19801A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.A12377A|TTN_ENST00000342175.6_Silent_p.A12569A|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.A12502A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.A18874A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19801	Fibronectin type-III 55.						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)			CATTTCTGGCCGCTACTCTAA	0.438													8	48					0	0	0	0	T	179451302	C	T	179451302	2	4	339	1	0	0	0	0	0	0	0	1	16831	639	23	1		1	TTN	2	179451302	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2638975	179451302	63748071	116	63124											
TTN	7273	broad.mit.edu	37	chr2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagacttgctggacccaCgccagcagcattgattgcat	9	9	11	12	1	0	2	0	1	0	1	0	3	0	3	2	2	4	5	2	2	0	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179463526C>T	ENST00000589042.1	-	291	57135	c.56911G>A	c.(56911-56913)Gtg>Atg	p.V18971M	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V17330M|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17330	Fibronectin type-III 37.						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)			GCTGGACCCACGCCAGCAGCA	0.428													9	120					0	0	0	0	T	179463526	C	T	179463526	3	4	339	1	0	0	0	0	1	0	0	0	16831	536	19	1	51070	1	TTN	2	179463526	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	12224	179463526	63735847	117	63125											
TTN	7273	broad.mit.edu	37	chr2	179464352	179464352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgatggtatataagccaGtgtcactcctgcgagactgc	9	11	11	10	1	1	2	1	1	0	1	2	3	2	2	2	1	3	1	2	1	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179464352G>C	ENST00000589042.1	-	289	56500	c.56276C>G	c.(56275-56277)aCt>aGt	p.T18759S	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T17118S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T9694S|TTN_ENST00000342175.6_Missense_Mutation_p.T9886S|TTN_ENST00000359218.5_Missense_Mutation_p.T9819S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T16191S|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17118	Fibronectin type-III 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATAAGCCAGTGTCACTCCT	0.418													12	134					0	0	0	0	C	179464352	G	C	179464352	3	2	339	1	0	0	0	0	1	0	0	0	16831	1029	36	4	51713	4	TTN	2	179464352	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	826	179464352	63735021	118	63126											
TTN	7273	broad.mit.edu	37	chr2	179476362	179476362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caatggcaatgtgttttctcCcagcatcagtcacatgtagg	10	12	9	10	0	3	0	2	0	1	0	4	0	3	0	1	2	1	4	1	2	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179476362C>A	ENST00000589042.1	-	269	50818	c.50594G>T	c.(50593-50595)gGg>gTg	p.G16865V	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G15224V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G7800V|TTN_ENST00000342175.6_Missense_Mutation_p.G7992V|TTN_ENST00000359218.5_Missense_Mutation_p.G7925V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14297V|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15224	Fibronectin type-III 22.						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)			GTGTTTTCTCCCAGCATCAGT	0.433													11	71					1.58986e-06	2.32014e-06	1	0	A	179476362	C	A	179476362	3	1	339	1	0	0	0	0	1	0	0	0	16831	623	22	4	57475	4	TTN	2	179476362	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	12010	179476362	63723011	119	63127											
TTN	7273	broad.mit.edu	37	chr2	179516625	179516625	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtaccttgtggaggcgccGctggctctggctcttccaca	5	11	12	13	2	2	0	0	0	2	0	3	1	3	1	3	4	1	4	3	4	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179516625G>C	ENST00000589042.1	-	205	39589	c.39365C>G	c.(39364-39366)gCg>gGg	p.A13122G	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A11615G|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A10688G|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11475	Ig-like 87.						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)			TGGAGGCGCCGCTGGCTCTGG	0.527													3	8					0	0	0	0	C	179516625	G	C	179516625	3	2	339	1	0	0	0	0	1	0	0	0	16831	1087	38	3	68538	3	TTN	2	179516625	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	40263	179516625	63682748	120	63128											
TTN	7273	broad.mit.edu	37	chr2	179547496	179547496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttcatattggtcatattCttctgttggttcatactcct	6	21	5	9	0	6	0	3	0	3	0	7	0	7	0	1	2	1	2	1	2	3	10			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179547496C>G	ENST00000589042.1	-	135	33246	c.33022G>C	c.(33022-33024)Gaa>Caa	p.E11008Q	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10691Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9764Q|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10691	Glu-rich.|Pro-rich.						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)			TGGTCATATTCTTCTGTTGGT	0.368													16	67					0	0	0	0	G	179547496	C	G	179547496	3	3	339	1	0	0	0	0	1	0	0	0	16831	922	32	2	71419	2	TTN	2	179547496	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	30871	179547496	63651877	121	63129											
TTN	7273	broad.mit.edu	37	chr2	179586797	179586797	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgacactcaaaatcagcActttctccagcaataacatc	16	9	3	13	0	3	1	2	1	1	0	5	1	3	1	1	0	3	2	1	0	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179586797A>G	ENST00000589042.1	-	78	22817	c.22593T>C	c.(22591-22593)agT>agC	p.S7531S	TTN_ENST00000591111.1_Silent_p.S7214S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S6287S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7214	Ig-like 57.						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)			CAAAATCAGCACTTTCTCCAG	0.408													7	142					0	0	0	0	G	179586797	A	G	179586797	2	3	339	1	0	0	0	0	0	0	0	1	16831	156	6	5		5	TTN	2	179586797	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	39301	179586797	63612576	122	63130											
TTN	7273	broad.mit.edu	37	chr2	179587665	179587665	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaacaaaataaggcggttCtaaggaagaaaggctcacag	17	6	11	7	2	2	1	1	0	1	1	2	2	2	2	0	4	1	3	0	4	7	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179587665C>A	ENST00000589042.1	-	76	22186		c.e76-1		TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			TAAGGCGGTTCTAAGGAAGAA	0.393													5	20					0.184627	0.188964	1	0	A	179587665	C	A	179587665	5	1	339	1	0	0	0	0	0	0	1	0	16831	927	32	2	82716	2	TTN	2	179587665	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	868	179587665	63611708	123	63131											
TTN	7273	broad.mit.edu	37	chr2	179639863	179639863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttcacattcaaaggttGccatagtgtctttttcctta	10	17	6	8	0	3	0	2	0	1	0	4	0	4	0	2	1	1	2	2	1	4	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179639863G>A	ENST00000589042.1	-	29	6799	c.6575C>T	c.(6574-6576)gCa>gTa	p.A2192V	TTN_ENST00000591111.1_Missense_Mutation_p.A2192V|TTN_ENST00000360870.5_Missense_Mutation_p.A2192V|TTN_ENST00000460472.2_Missense_Mutation_p.A2146V|TTN_ENST00000342175.6_Missense_Mutation_p.A2146V|TTN_ENST00000359218.5_Missense_Mutation_p.A2146V|TTN_ENST00000342992.6_Missense_Mutation_p.A2192V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1947	Ig-like 11.						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)			TTCAAAGGTTGCCATAGTGTC	0.403													6	72					0	0	0	0	A	179639863	G	A	179639863	3	1	339	1	0	0	0	0	1	0	0	0	16831	1319	46	4	104749	4	TTN	2	179639863	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	52198	179639863	63559510	124	63132											
PDE1A	5136	broad.mit.edu	37	chr2	183104854	183104854	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctttccacaaaaattccAgcttgaacagcatgcacaat	15	10	4	12	0	0	1	0	1	0	0	2	1	2	1	3	0	5	3	3	0	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:183104854A>T	ENST00000435564.1	-	3	581	c.381T>A	c.(379-381)gcT>gcA	p.A127A	PDE1A_ENST00000351439.5_Silent_p.A111A|PDE1A_ENST00000536095.1_Silent_p.A23A|PDE1A_ENST00000409365.1_Silent_p.A111A|PDE1A_ENST00000331935.6_Silent_p.A127A|PDE1A_ENST00000346717.4_Silent_p.A93A|PDE1A_ENST00000358139.2_Silent_p.A127A|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Silent_p.A127A|PDE1A_ENST00000456212.1_Silent_p.A127A	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	127					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CAAAAATTCCAGCTTGAACAG	0.398													8	44					0	0	0	0	T	183104854	A	T	183104854	2	4	339	1	0	0	0	0	0	0	0	1	11704	175	7	5		5	PDE1A	2	183104854	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	3464991	183104854	60094519	125	63133											
PLCL1	5334	broad.mit.edu	37	chr2	199011586	199011586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggcatgcctgtcctgtgGactgagtaaagcccccagca	8	8	12	13	0	0	1	0	1	0	0	1	2	1	2	4	2	3	4	4	2	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:199011586G>T	ENST00000428675.1	+	6	3586	c.3188G>T	c.(3187-3189)gGa>gTa	p.G1063V	PLCL1_ENST00000437704.2_Missense_Mutation_p.G965V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1063					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTCCTGTGGACTGAGTAAA	0.498													8	33					0.0381472	0.0403057	1	0	T	199011586	G	T	199011586	3	4	339	1	0	0	0	0	1	0	0	0	12111	1174	41	2	3210	2	PLCL1	2	199011586	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	15906732	199011586	44187787	126	63134											
ABI2	10152	broad.mit.edu	37	chr2	204259499	204259499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attacgtacctagcccaaccCgtaatatggctccctcgcag	10	9	7	15	3	0	0	0	0	0	0	2	0	1	0	4	1	4	4	4	1	6	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:204259499C>T	ENST00000295851.4	+	6	951	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	ABI2_ENST00000261018.7_Intron|ABI2_ENST00000261016.6_Missense_Mutation_p.R168C|ABI2_ENST00000261017.5_Missense_Mutation_p.R213C|ABI2_ENST00000430574.1_3'UTR|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000424558.1_Missense_Mutation_p.R213C|ABI2_ENST00000422511.2_Missense_Mutation_p.R219C|ABI2_ENST00000430418.1_Intron			Q9NYB9	ABI2_HUMAN	abl-interactor 2	219	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TAGCCCAACCCGTAATATGGC	0.493													14	78					0	0	0	0	T	204259499	C	T	204259499	3	4	339	1	0	0	0	0	1	0	0	0	89	652	23	1	655	1	ABI2	2	204259499	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	5247913	204259499	38939874	127	63135											
RAPH1	65059	broad.mit.edu	37	chr2	204354463	204354463	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcactcactgtgcctgcTgacgcggttcttctgtgctg	4	13	11	13	2	4	1	2	1	2	0	4	1	4	1	1	1	3	4	1	1	0	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:204354463T>A	ENST00000319170.5	-	4	875	c.576A>T	c.(574-576)tcA>tcT	p.S192S	RAPH1_ENST00000374488.2_Silent_p.S192S|RAPH1_ENST00000374489.2_Silent_p.S192S|RAPH1_ENST00000374493.3_Silent_p.S192S|RAPH1_ENST00000308091.4_Silent_p.S192S|RAPH1_ENST00000423104.1_Silent_p.S192S|RAPH1_ENST00000457812.1_Silent_p.S192S|RAPH1_ENST00000453034.1_Silent_p.S192S|RAPH1_ENST00000419464.1_Silent_p.S192S|RAPH1_ENST00000439222.1_Silent_p.S192S|RAPH1_ENST00000418114.1_Silent_p.S192S	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	192					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGTGCCTGCTGACGCGGTTC	0.453													7	71					0	0	0	0	A	204354463	T	A	204354463	2	1	339	1	0	0	0	0	0	0	0	1	13132	1567	55	5		5	RAPH1	2	204354463	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	94964	204354463	38844910	128	63136											
ABCA12	26154	broad.mit.edu	37	chr2	215840691	215840691	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtggtggaacctcttgatGagtatagccatgatcttctt	8	15	11	7	0	3	3	0	3	3	0	3	4	3	4	2	2	2	1	2	2	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:215840691G>C	ENST00000272895.7	-	34	5418	c.5199C>G	c.(5197-5199)ctC>ctG	p.L1733L	ABCA12_ENST00000389661.4_Silent_p.L1415L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1733					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACCTCTTGATGAGTATAGCCA	0.478													4	43					0	0	0	0	C	215840691	G	C	215840691	2	2	339	1	0	0	0	0	0	0	0	1	30	1277	45	2		2	ABCA12	2	215840691	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	11486228	215840691	27358682	129	63137											
ABCA12	26154	broad.mit.edu	37	chr2	215840732	215840732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcaacagtccaaagccatCcagcctctctcctcttgtca	10	9	5	17	0	3	0	1	0	2	0	7	0	6	0	5	0	4	1	5	0	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:215840732C>T	ENST00000272895.7	-	34	5377	c.5158G>A	c.(5158-5160)Gat>Aat	p.D1720N	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1402N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1720					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAAAGCCATCCAGCCTCTCT	0.418													5	30					0	0	0	0	T	215840732	C	T	215840732	3	4	339	1	0	0	0	0	1	0	0	0	30	855	30	2	2709	2	ABCA12	2	215840732	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	41	215840732	27358641	130	63138											
VIL1	7429	broad.mit.edu	37	chr2	219294366	219294366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgagggaagtcgccacaCggccactgacacaggacctg	10	5	14	12	2	0	2	0	2	0	0	1	4	0	4	3	4	0	0	3	4	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:219294366C>T	ENST00000248444.5	+	8	905	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	VIL1_ENST00000440053.1_Missense_Mutation_p.R273W|VIL1_ENST00000392114.2_5'UTR	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	273	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTCGCCACACGGCCACTGAC	0.602													5	47					0	0	0	0	T	219294366	C	T	219294366	3	4	339	1	0	0	0	0	1	0	0	0	17260	527	19	1	843	1	VIL1	2	219294366	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3453634	219294366	23905007	131	63139											
PTPRN	5798	broad.mit.edu	37	chr2	220172280	220172280	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgcccaaacaagccatCtaagggcacaaaagtggtgt	14	6	10	11	0	1	0	0	0	1	0	1	0	1	0	2	2	3	2	2	2	5	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:220172280C>A	ENST00000295718.2	-	3	407		c.e3-1		PTPRN_ENST00000423636.2_Splice_Site|PTPRN_ENST00000409251.3_Splice_Site	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N						response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AACAAGCCATCTAAGGGCACA	0.557													5	35					1.23904e-05	1.68709e-05	1	0	A	220172280	C	A	220172280	5	1	339	1	0	0	0	0	0	0	1	0	12889	927	32	2	2857	2	PTPRN	2	220172280	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	877914	220172280	23027093	132	63140											
COL4A3	1285	broad.mit.edu	37	chr2	228173617	228173617	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctgatgtttcattaggaActcttggcagctgcctgcag	8	13	11	9	0	3	1	1	1	2	0	3	2	3	2	1	2	4	4	1	2	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:228173617A>T	ENST00000396578.3	+	49	4627	c.4465A>T	c.(4465-4467)Act>Tct	p.T1489S	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1489	Collagen IV NC1.|Required for the anti-angiogenic activity of tumstatin.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTCATTAGGAACTCTTGGCAG	0.358													6	44					0	0	0	0	T	228173617	A	T	228173617	3	4	339	1	0	0	0	0	1	0	0	0	3721	43	2	5	4659	5	COL4A3	2	228173617	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	8001337	228173617	15025756	133	63141											
C2orf83	56918	broad.mit.edu	37	chr2	228476311	228476311	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaaggtcagcccgcatgtCtgtacggtaagtttcctcat	9	12	10	10	2	3	1	2	1	1	0	4	1	4	1	2	2	2	4	2	2	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:228476311C>G	ENST00000264387.4	-	3	338	c.252G>C	c.(250-252)caG>caC	p.Q84H	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	84						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						GCCCGCATGTCTGTACGGTAA	0.483													7	40					0	0	0	0	G	228476311	C	G	228476311	3	3	339	1	0	0	0	0	1	0	0	0	2218	912	32	2	204	2	C2orf83	2	228476311	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	302694	228476311	14723062	134	63142											
CCL20	6364	broad.mit.edu	37	chr2	228680244	228680244	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttattgtgggcttcacaCggcagctggccaatgaaggc	10	10	12	9	1	1	1	1	1	0	0	1	1	1	1	1	4	1	3	1	4	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:228680244C>A	ENST00000409189.3	+	2	218	c.148C>A	c.(148-150)Cgg>Agg	p.R50R	CCL20_ENST00000358813.4_Silent_p.R51R|CCL20_ENST00000473642.1_3'UTR	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	51					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GGGCTTCACACGGCAGCTGGC	0.358													8	55					0.0381472	0.0403057	1	0	A	228680244	C	A	228680244	2	1	339	1	0	0	0	0	0	0	0	1	2919	527	19	3		3	CCL20	2	228680244	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	203933	228680244	14519129	135	63143											
B3GNT7	93010	broad.mit.edu	37	chr2	232262911	232262911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagacctggggccgcgagCggcagtccgcgggtgggggc	4	3	21	13	5	0	1	0	0	0	1	1	2	1	1	4	6	1	1	4	6	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:232262911C>T	ENST00000287590.5	+	2	742	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	161					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGGCCGCGAGCGGCAGTCCGC	0.706													7	22					0	0	0	0	T	232262911	C	T	232262911	3	4	339	1	0	0	0	0	1	0	0	0	1266	759	27	1	487	1	B3GNT7	2	232262911	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3582667	232262911	10936462	136	63144											
MLPH	79083	broad.mit.edu	37	chr2	238457904	238457904	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgagaagaaagttcagtaAttccctgaaaagtcaaggta	16	10	9	6	0	3	3	2	2	1	2	4	4	4	3	1	1	0	3	1	1	7	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:238457904A>G	ENST00000264605.3	+	14	1952	c.1658A>G	c.(1657-1659)aAt>aGt	p.N553S	MLPH_ENST00000445024.2_3'UTR|MLPH_ENST00000338530.4_Missense_Mutation_p.N525S|MLPH_ENST00000410032.1_Missense_Mutation_p.N410S|MLPH_ENST00000409373.1_Missense_Mutation_p.N433S	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	553							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AAGTTCAGTAATTCCCTGAAA	0.498													4	42					0	0	0	0	G	238457904	A	G	238457904	3	3	339	1	0	0	0	0	1	0	0	0	9702	101	4	5	1708	5	MLPH	2	238457904	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	6194993	238457904	4741469	137	63145											
ASB1	51665	broad.mit.edu	37	chr2	239342233	239342233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagggagcaattttgtGatcatccgctggagcactgt	8	11	14	8	1	1	2	1	2	0	0	2	4	2	4	1	3	2	4	1	3	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:239342233G>T	ENST00000264607.4	+	2	335	c.88G>T	c.(88-90)Gat>Tat	p.D30Y	ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Missense_Mutation_p.D30Y	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	30					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GCAATTTTGTGATCATCCGCT	0.562													3	18					1	1	1	0	T	239342233	G	T	239342233	3	4	339	1	0	0	0	0	1	0	0	0	1017	1290	45	2	94	2	ASB1	2	239342233	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	884329	239342233	3857140	138	63146											
TIMP4	7079	broad.mit.edu	37	chr3	12198380	12198380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccacagagggaagagtCaaaaggcgtatagatatact	17	6	10	8	1	1	3	1	0	0	3	1	4	1	4	1	2	1	1	1	2	7	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:12198380C>A	ENST00000287814.4	-	3	802	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	98	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGGGAAGAGTCAAAAGGCGTA	0.393													11	26					0.00829132	0.00933156	1	0	A	12198380	C	A	12198380	3	1	339	1	0	0	0	0	1	0	0	0	16014	826	29	2	394	2	TIMP4	3	12198380	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08		12198380	185824050	139	63147											
SATB1	6304	broad.mit.edu	37	chr3	18458394	18458394	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacgtacacattatttacCtttggcctgggcagcagagc	9	10	9	13	1	0	1	0	0	0	1	0	1	0	1	3	2	4	3	3	2	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:18458394C>T	ENST00000338745.6	-	3	2122	c.388_splice	c.e3+1	p.G130_splice	SATB1_ENST00000454909.2_Splice_Site_p.G130_splice|SATB1_ENST00000417717.2_Splice_Site_p.G130_splice|SATB1_ENST00000475083.1_5'UTR|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	130	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CATTATTTACCTTTGGCCTGG	0.403													13	59					0	0	0	0	T	18458394	C	T	18458394	5	4	339	1	0	0	0	0	0	0	1	0	13939	695	24	4	1939	4	SATB1	3	18458394	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	6260014	18458394	179564036	140	63148											
RPL15	6138	broad.mit.edu	37	chr3	23960061	23960061	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgaagccttcagtccgtTgcagaggtaaatggttttga	9	12	12	8	2	1	2	1	1	0	1	3	3	2	2	2	2	2	5	2	2	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:23960061T>A	ENST00000307839.5	+	3	942	c.303T>A	c.(301-303)gtT>gtA	p.V101V	RPL15_ENST00000435882.1_Silent_p.V101V|RPL15_ENST00000413699.1_Silent_p.V101V|RPL15_ENST00000456530.2_Silent_p.V101V|RPL15_ENST00000354811.5_Silent_p.V101V|RPL15_ENST00000415719.1_Silent_p.V101V|NKIRAS1_ENST00000421515.2_Intron	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	101				V -> L (in Ref. 5; AAG44837).	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTCAGTCCGTTGCAGAGGTAA	0.473													8	44					0	0	0	0	A	23960061	T	A	23960061	2	1	339	1	0	0	0	0	0	0	0	1	13647	1799	63	5		5	RPL15	3	23960061	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	5501667	23960061	174062369	141	63149											
CCR4	1233	broad.mit.edu	37	chr3	32995458	32995458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcacttgttatactgagCgcaaccatacctactgcaaa	13	10	6	12	1	1	1	1	1	0	0	1	1	1	1	2	0	7	4	2	0	6	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:32995458C>A	ENST00000330953.5	+	2	712	c.544C>A	c.(544-546)Cgc>Agc	p.R182S		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	182					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TTATACTGAGCGCAACCATAC	0.498													12	66					2.80697e-09	4.5218e-09	1	0	A	32995458	C	A	32995458	3	1	339	1	0	0	0	0	1	0	0	0	2972	768	27	3	546	3	CCR4	3	32995458	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	9035397	32995458	165026972	142	63150											
CLASP2	23122	broad.mit.edu	37	chr3	33576820	33576820	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaatagttatatggattaTagtctcgagagcgtggagag	12	12	13	4	2	1	3	0	1	1	2	2	6	1	4	0	2	1	1	0	2	6	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:33576820T>C	ENST00000399362.4	-	34	4066	c.3713A>G	c.(3712-3714)tAt>tGt	p.Y1238C	CLASP2_ENST00000468888.2_Missense_Mutation_p.Y1239C|CLASP2_ENST00000307312.7_Missense_Mutation_p.Y720C|CLASP2_ENST00000480013.1_Missense_Mutation_p.Y1018C|CLASP2_ENST00000461133.3_Missense_Mutation_p.Y998C|CLASP2_ENST00000539981.1_Missense_Mutation_p.Y1008C|CLASP2_ENST00000359576.5_Missense_Mutation_p.Y1230C	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1240										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ATATGGATTATAGTCTCGAGA	0.448													4	32					0	0	0	0	C	33576820	T	C	33576820	3	2	339	1	0	0	0	0	1	0	0	0	3485	1406	49	5	852	5	CLASP2	3	33576820	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	581362	33576820	164445610	143	63151											
SCN5A	6331	broad.mit.edu	37	chr3	38645243	38645243	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcacagggcggaggaggTggcttcctggggatgtggcc	6	7	19	9	1	1	0	1	0	0	0	2	3	2	3	2	8	0	2	2	8	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:38645243T>A	ENST00000413689.1	-	12	2043	c.1850A>T	c.(1849-1851)cAc>cTc	p.H617L	SCN5A_ENST00000333535.4_Missense_Mutation_p.H617L|SCN5A_ENST00000451551.2_Missense_Mutation_p.H617L|SCN5A_ENST00000455624.2_Missense_Mutation_p.H617L|SCN5A_ENST00000449557.2_Missense_Mutation_p.H617L|SCN5A_ENST00000450102.2_Missense_Mutation_p.H617L|SCN5A_ENST00000443581.1_Missense_Mutation_p.H617L|SCN5A_ENST00000423572.2_Missense_Mutation_p.H617L|SCN5A_ENST00000414099.2_Missense_Mutation_p.H617L|SCN5A_ENST00000425664.1_Missense_Mutation_p.H617L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	617					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCGGAGGAGGTGGCTTCCTGG	0.627													8	31					0	0	0	0	A	38645243	T	A	38645243	3	1	339	1	0	0	0	0	1	0	0	0	14009	1696	59	5	4268	5	SCN5A	3	38645243	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	5068423	38645243	159377187	144	63152											
SCN11A	11280	broad.mit.edu	37	chr3	38888794	38888794	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacaatgagaaaggagatGataatgtaactgacaaagta	21	7	9	4	0	0	4	0	3	0	2	0	6	0	4	0	1	2	2	0	1	7	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:38888794G>T	ENST00000450244.1	-	26	4965	c.4767C>A	c.(4765-4767)atC>atA	p.I1589I	SCN11A_ENST00000456224.3_Silent_p.I1551I|SCN11A_ENST00000302328.3_Silent_p.I1589I			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1589					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GAAAGGAGATGATAATGTAAC	0.433													14	47					9.31168e-06	1.29486e-05	1	0	T	38888794	G	T	38888794	2	4	339	1	0	0	0	0	0	0	0	1	14000	1280	45	2		2	SCN11A	3	38888794	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	243551	38888794	159133636	145	63153											
XIRP1	165904	broad.mit.edu	37	chr3	39226294	39226294	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcctcttcaatgtccAgcagccttgccaaggtctgt	8	10	9	14	0	3	0	1	0	2	0	4	0	4	0	4	1	4	2	4	1	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:39226294A>T	ENST00000340369.3	-	2	4871	c.4643T>A	c.(4642-4644)cTg>cAg	p.L1548Q	XIRP1_ENST00000421646.1_Missense_Mutation_p.L231Q|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1548							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTCAATGTCCAGCAGCCTTGC	0.587													9	54					0	0	0	0	T	39226294	A	T	39226294	3	4	339	1	0	0	0	0	1	0	0	0	17525	188	7	5	892	5	XIRP1	3	39226294	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	337500	39226294	158796136	146	63154											
LZTFL1	54585	broad.mit.edu	37	chr3	45872444	45872444	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgtaaatcttgcagtgcTttttctagttttgacttttc	7	20	7	7	0	2	1	0	1	2	0	3	1	2	1	0	0	3	5	0	0	3	9			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:45872444T>A	ENST00000296135.6	-	7	735	c.561A>T	c.(559-561)aaA>aaT	p.K187N	LZTFL1_ENST00000539217.1_Missense_Mutation_p.K183N|LZTFL1_ENST00000536047.1_Missense_Mutation_p.K170N|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	187										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CTTGCAGTGCTTTTTCTAGTT	0.313													3	16					0	0	0	0	A	45872444	T	A	45872444	3	1	339	1	0	0	0	0	1	0	0	0	9201	1606	56	5	354	5	LZTFL1	3	45872444	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	6646150	45872444	152149986	147	63155											
SCAP	22937	broad.mit.edu	37	chr3	47460903	47460903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaaagttcctcatcctcagGcccccaggttacctctggga	8	9	8	16	0	3	0	2	0	1	0	5	1	5	1	6	3	1	2	6	3	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:47460903G>T	ENST00000265565.5	-	13	2267	c.1855C>A	c.(1855-1857)Cct>Act	p.P619T	SCAP_ENST00000545718.1_Missense_Mutation_p.P227T|SCAP_ENST00000441517.2_Missense_Mutation_p.P364T	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	619					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	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi 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)		TCATCCTCAGGCCCCCAGGTT	0.582													9	40					3.09899e-07	4.66377e-07	1	0	T	47460903	G	T	47460903	3	4	339	1	0	0	0	0	1	0	0	0	13963	1203	42	4	2028	4	SCAP	3	47460903	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1588459	47460903	150561527	148	63156											
ZNF589	51385	broad.mit.edu	37	chr3	48309548	48309548	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccacccaggaaatccctgcCcagaggatcagccacagtca	12	5	8	16	0	2	1	2	0	0	1	4	3	4	3	5	2	2	0	5	2	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:48309548C>G	ENST00000354698.3	+	4	439	c.367C>G	c.(367-369)Cca>Gca	p.P123A	ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000440261.2_Missense_Mutation_p.P122A|ZNF589_ENST00000412564.1_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	123					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAATCCCTGCCCAGAGGATCA	0.507													7	39					0	0	0	0	G	48309548	C	G	48309548	3	3	339	1	0	0	0	0	1	0	0	0	18116	623	22	4	381	4	ZNF589	3	48309548	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	848645	48309548	149712882	149	63157											
COL7A1	1294	broad.mit.edu	37	chr3	48610629	48610629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaggcctgaagggccggggGgtccaggaagtcccacagct	9	4	16	12	1	0	1	0	1	0	0	2	2	2	2	4	6	1	1	4	6	3	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:48610629G>A	ENST00000328333.8	-	84	6799	c.6692C>T	c.(6691-6693)cCc>cTc	p.P2231L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2199L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2231	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGCCGGGGGGTCCAGGAAG	0.602													7	27					0	0	0	0	A	48610629	G	A	48610629	3	1	339	1	0	0	0	0	1	0	0	0	3734	1232	43	4	2282	4	COL7A1	3	48610629	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	301081	48610629	149411801	150	63158											
NISCH	11188	broad.mit.edu	37	chr3	52526152	52526152	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgaggactgtgtccactAcccactgcccgagtttgcca	8	9	11	13	1	0	1	0	1	0	0	1	4	1	3	4	2	3	1	4	2	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:52526152A>C	ENST00000345716.4	+	21	4303	c.4169A>C	c.(4168-4170)tAc>tCc	p.Y1390S	NISCH_ENST00000479054.1_Missense_Mutation_p.Y1390S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1390					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGTGTCCACTACCCACTGCCC	0.667													10	45					0	0	0	0	C	52526152	A	C	52526152	3	2	339	1	0	0	0	0	1	0	0	0	10502	391	14	5	4251	5	NISCH	3	52526152	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	3915523	52526152	145496278	151	63159											
CACNA1D	776	broad.mit.edu	37	chr3	53814125	53814125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgcaaccctgtttgctttgGttcgaacggctcttaagatc	8	14	9	10	2	1	1	0	0	1	1	3	2	1	1	1	2	4	5	1	2	3	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:53814125G>T	ENST00000288139.3	+	39	4838	c.4720G>T	c.(4720-4722)Gtt>Ttt	p.V1574F	CACNA1D_ENST00000540742.1_Missense_Mutation_p.V446F|CACNA1D_ENST00000350061.5_Missense_Mutation_p.V1554F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1539F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1554					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTTTGCTTTGGTTCGAACGGC	0.468													8	25					1.06961e-07	1.64764e-07	1	0	T	53814125	G	T	53814125	3	4	339	1	0	0	0	0	1	0	0	0	2566	1261	44	4	4982	4	CACNA1D	3	53814125	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1287973	53814125	144208305	152	63160											
DNASE1L3	1776	broad.mit.edu	37	chr3	58191210	58191210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atacttacttgtagagaaagGcatattgttctttatatgtg	12	17	8	4	0	1	1	0	0	1	1	1	2	1	1	0	1	2	3	0	1	7	10			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:58191210G>T	ENST00000483681.1	-	5	889	c.308C>A	c.(307-309)gCc>gAc	p.A103D	DNASE1L3_ENST00000394549.2_Missense_Mutation_p.A103D|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.A103D|DNASE1L3_ENST00000486455.1_Intron			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	103					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GTAGAGAAAGGCATATTGTTC	0.353													5	33					1.23904e-05	1.68709e-05	1	0	T	58191210	G	T	58191210	3	4	339	1	0	0	0	0	1	0	0	0	4699	1203	42	4	633	4	DNASE1L3	3	58191210	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4377085	58191210	139831220	153	63161											
PDZRN3	23024	broad.mit.edu	37	chr3	73453527	73453527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggtcatgagttgctctgGataagtctctgccgttgacc	6	13	11	11	1	3	2	1	2	2	0	4	3	3	3	3	2	2	3	3	2	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:73453527G>T	ENST00000263666.4	-	4	1052	c.938C>A	c.(937-939)tCc>tAc	p.S313Y	PDZRN3_ENST00000535920.1_Missense_Mutation_p.S35Y|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S30Y|PDZRN3_ENST00000466780.1_5'UTR|PDZRN3_ENST00000462146.2_5'UTR	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	313	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGTTGCTCTGGATAAGTCTCT	0.458													10	45					0.000442599	0.00054214	1	0	T	73453527	G	T	73453527	3	4	339	1	0	0	0	0	1	0	0	0	11780	1174	41	2	2290	2	PDZRN3	3	73453527	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	15262317	73453527	124568903	154	63162											
EPHA3	2042	broad.mit.edu	37	chr3	89259051	89259051	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaacattacacacccatCaggacttaccaggtgtgcaa	14	8	8	11	0	1	1	1	1	0	0	1	3	1	2	2	2	4	1	2	2	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:89259051C>T	ENST00000336596.2	+	3	420	c.195C>T	c.(193-195)atC>atT	p.I65I	EPHA3_ENST00000494014.1_Silent_p.I65I|EPHA3_ENST00000452448.2_Silent_p.I65I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	65						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACACACCCATCAGGACTTACC	0.438										TSP Lung(6;0.00050)			3	25					0	0	0	0	T	89259051	C	T	89259051	2	4	339	1	0	0	0	0	0	0	0	1	5206	816	29	2		2	EPHA3	3	89259051	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	15805524	89259051	108763379	155	63163											
OR5AC2	81050	broad.mit.edu	37	chr3	97806633	97806633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgatatttatttttggtgCttttatacaaatacccactt	12	19	4	6	0	0	1	0	1	0	0	0	1	0	1	1	1	3	1	1	1	7	10			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:97806633C>G	ENST00000358642.2	+	1	617	c.617C>G	c.(616-618)gCt>gGt	p.A206G		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATTTTTGGTGCTTTTATACAA	0.299													4	50					0	0	0	0	G	97806633	C	G	97806633	3	3	339	1	0	0	0	0	1	0	0	0	11212	797	28	4	619	4	OR5AC2	3	97806633	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	8547582	97806633	100215797	156	63164											
OR5H14	403273	broad.mit.edu	37	chr3	97868351	97868351	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atatctcatcaccatcatggGgaatcttggtctgattgctg	9	14	9	9	0	5	1	3	1	3	0	6	2	5	2	1	3	1	1	1	3	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:97868351G>C	ENST00000437310.1	+	1	182	c.122G>C	c.(121-123)gGg>gCg	p.G41A		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCATCATGGGGAATCTTGGT	0.403													17	201					0	0	0	0	C	97868351	G	C	97868351	3	2	339	1	0	0	0	0	1	0	0	0	11231	1232	43	4	124	4	OR5H14	3	97868351	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	61718	97868351	100154079	157	63165											
MORC1	27136	broad.mit.edu	37	chr3	108773671	108773671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaattcctgtttattatGggatggttccatgacctcca	10	14	9	8	0	0	2	0	1	0	1	3	4	3	3	4	2	0	2	4	2	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:108773671G>A	ENST00000232603.5	-	14	1316	c.1234C>T	c.(1234-1236)Cat>Tat	p.H412Y	MORC1_ENST00000483760.1_Missense_Mutation_p.H412Y	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	412					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTTTATTATGGGATGGTTCC	0.388													8	69					0	0	0	0	A	108773671	G	A	108773671	3	1	339	1	0	0	0	0	1	0	0	0	9771	1348	47	4	1780	4	MORC1	3	108773671	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	10905320	108773671	89248759	158	63166											
SIDT1	54847	broad.mit.edu	37	chr3	113286509	113286509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcatccatggcacccctggGtgctcagtacaaactgctag	9	8	10	14	1	1	0	1	0	0	0	2	0	2	0	3	2	4	5	3	2	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:113286509G>T	ENST00000264852.4	+	3	1193	c.467G>T	c.(466-468)gGt>gTt	p.G156V	SIDT1_ENST00000393830.3_Missense_Mutation_p.G156V	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	156						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GCACCCCTGGGTGCTCAGTAC	0.512													13	105					9.31168e-06	1.29486e-05	1	0	T	113286509	G	T	113286509	3	4	339	1	0	0	0	0	1	0	0	0	14390	1261	44	4	477	4	SIDT1	3	113286509	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4512838	113286509	84735921	159	63167											
NR1I2	8856	broad.mit.edu	37	chr3	119526084	119526084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcatttctagtccaagagGcccagaagcaaacctggagg	12	8	10	11	0	2	2	1	0	2	2	4	3	3	3	3	3	2	1	3	3	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:119526084G>A	ENST00000337940.4	+	2	152	c.104G>A	c.(103-105)gGc>gAc	p.G35D	NR1I2_ENST00000393716.2_5'UTR|NR1I2_ENST00000466380.1_5'UTR	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	0					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	AGTCCAAGAGGCCCAGAAGCA	0.493													4	33					0	0	0	0	A	119526084	G	A	119526084	3	1	339	1	0	0	0	0	1	0	0	0	10691	1203	42	4	110	4	NR1I2	3	119526084	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	6239575	119526084	78496346	160	63168											
SNX4	8723	broad.mit.edu	37	chr3	125208297	125208297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcattaagcgcttttaacCtggagtctgcctggaaaaaa	12	12	9	8	1	1	0	0	0	1	0	1	2	1	2	2	2	4	2	2	2	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:125208297C>A	ENST00000251775.4	-	6	632	c.608G>T	c.(607-609)aGg>aTg	p.R203M	SNX4_ENST00000473417.1_Intron|SNX4_ENST00000536067.1_Missense_Mutation_p.R58M	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	203					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CGCTTTTAACCTGGAGTCTGC	0.313													3	27					1	1	1	0	A	125208297	C	A	125208297	3	1	339	1	0	0	0	0	1	0	0	0	14992	681	24	4	780	4	SNX4	3	125208297	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	5682213	125208297	72814133	161	63169											
PLXNA1	5361	broad.mit.edu	37	chr3	126751349	126751349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaccttcatggactcctGctccacctctgagcacaagc	9	8	7	17	0	2	2	1	1	1	1	4	3	4	3	5	1	3	2	5	1	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:126751349G>T	ENST00000393409.2	+	29	5351	c.5351G>T	c.(5350-5352)tGc>tTc	p.C1784F	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Missense_Mutation_p.C1761F	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1784					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ATGGACTCCTGCTCCACCTCT	0.557													9	53					0.000274275	0.000339596	1	0	T	126751349	G	T	126751349	3	4	339	1	0	0	0	0	1	0	0	0	12191	1319	46	4	5465	4	PLXNA1	3	126751349	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1543052	126751349	71271081	162	63170											
COL6A6	131873	broad.mit.edu	37	chr3	130284003	130284003	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtggcctatagcaatgAgacaaaagtgataaattcac	15	10	8	8	0	1	2	1	2	0	1	1	3	1	2	2	1	1	1	2	1	7	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:130284003A>T	ENST00000358511.6	+	3	858	c.827A>T	c.(826-828)gAg>gTg	p.E276V	COL6A6_ENST00000453409.2_Missense_Mutation_p.E276V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	276	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TATAGCAATGAGACAAAAGTG	0.423													19	86					0	0	0	0	T	130284003	A	T	130284003	3	4	339	1	0	0	0	0	1	0	0	0	3733	304	11	5	837	5	COL6A6	3	130284003	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	3532654	130284003	67738427	163	63171											
ATP2C1	27032	broad.mit.edu	37	chr3	130674973	130674973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacccctctgcagaagaGcatggacctcttaggaaaac	16	6	8	11	0	2	2	0	0	2	2	2	4	2	4	3	2	4	2	3	2	6	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:130674973G>T	ENST00000510168.1	+	11	1332	c.782G>T	c.(781-783)aGc>aTc	p.S261I	ATP2C1_ENST00000428331.2_Missense_Mutation_p.S261I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.S245I|ATP2C1_ENST00000504381.1_Missense_Mutation_p.S206I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.S245I|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S256I|ATP2C1_ENST00000359644.3_Missense_Mutation_p.S261I|ATP2C1_ENST00000422190.2_Missense_Mutation_p.S261I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.S261I|ATP2C1_ENST00000393221.4_Missense_Mutation_p.S295I|ATP2C1_ENST00000513801.1_Missense_Mutation_p.S245I|ATP2C1_ENST00000504948.1_Missense_Mutation_p.S245I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.S261I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	261					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CTGCAGAAGAGCATGGACCTC	0.358									Hailey-Hailey disease				7	55					8.12818e-05	0.000103873	1	0	T	130674973	G	T	130674973	3	4	339	1	0	0	0	0	1	0	0	0	1147	971	34	4	820	4	ATP2C1	3	130674973	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	390970	130674973	67347457	164	63172											
BFSP2	8419	broad.mit.edu	37	chr3	133119065	133119065	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctccaggaccaatgcCatgagtggccttgtccgagc	8	7	11	15	1	0	1	0	1	0	0	2	3	2	2	7	2	3	0	7	2	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:133119065C>A	ENST00000302334.2	+	1	227	c.138C>A	c.(136-138)gcC>gcA	p.A46A		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	46	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GGACCAATGCCATGAGTGGCC	0.677													7	69					0.00198382	0.00229771	1	0	A	133119065	C	A	133119065	2	1	339	1	0	0	0	0	0	0	0	1	1421	581	21	4		4	BFSP2	3	133119065	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2444092	133119065	64903365	165	63173											
TF	7018	broad.mit.edu	37	chr3	133473404	133473404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcttccagatgaaccagCttcgaggcaagaagtcctgc	10	8	12	11	1	0	3	0	1	0	2	3	4	2	3	3	2	3	3	3	2	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:133473404C>A	ENST00000402696.3	+	4	876	c.391C>A	c.(391-393)Ctt>Att	p.L131I	TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Missense_Mutation_p.L4I|TFP1_ENST00000460564.1_RNA	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	131	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GATGAACCAGCTTCGAGGCAA	0.522													30	131					2.12542e-12	3.54882e-12	1	0	A	133473404	C	A	133473404	3	1	339	1	0	0	0	0	1	0	0	0	15879	797	28	4	405	4	TF	3	133473404	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	354339	133473404	64549026	166	63174											
A4GNT	51146	broad.mit.edu	37	chr3	137849968	137849968	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacgtctgtggctcaggaggGcttccagcccctggtgggac	5	8	15	13	1	2	0	1	0	1	0	3	2	3	2	3	5	1	2	3	5	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:137849968G>C	ENST00000236709.3	-	2	332	c.131C>G	c.(130-132)gCc>gGc	p.A44G		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	44					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GCTCAGGAGGGCTTCCAGCCC	0.542													7	80					0	0	0	0	C	137849968	G	C	137849968	3	2	339	1	0	0	0	0	1	0	0	0	7	1203	42	4	899	4	A4GNT	3	137849968	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4376564	137849968	60172462	167	63175											
PRR23A	729627	broad.mit.edu	37	chr3	138724773	138724773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagacgagtcgtcctgcgctCctgagcgttcgtcgacagag	7	8	13	13	6	0	3	0	1	0	2	5	5	2	3	2	0	2	2	2	0	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:138724773C>T	ENST00000383163.2	-	1	337	c.338G>A	c.(337-339)gGa>gAa	p.G113E	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	113										endometrium(3)|kidney(1)|lung(7)	11						GTCCTGCGCTCCTGAGCGTTC	0.612													4	16					0	0	0	0	T	138724773	C	T	138724773	3	4	339	1	0	0	0	0	1	0	0	0	12674	855	30	2	466	2	PRR23A	3	138724773	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	874805	138724773	59297657	168	63176											
GRK7	131890	broad.mit.edu	37	chr3	141497567	141497567	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagagcgagtggctgcagtGacgctggccaaggctgaggc	9	5	18	9	2	0	3	0	2	0	1	0	5	0	3	1	4	2	4	1	4	2	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:141497567G>A	ENST00000264952.2	+	1	578	c.441G>A	c.(439-441)gtG>gtA	p.V147V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	147	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGGCTGCAGTGACGCTGGCCA	0.607													4	62					0	0	0	0	A	141497567	G	A	141497567	2	1	339	1	0	0	0	0	0	0	0	1	6844	1277	45	2		2	GRK7	3	141497567	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2772794	141497567	56524863	169	63177											
PLSCR2	57047	broad.mit.edu	37	chr3	146166994	146166994	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagcaggaatagacttacaAtgaggaaacaggcaccaatc	17	7	9	8	0	0	2	0	1	0	1	1	4	0	4	1	3	3	2	1	3	7	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:146166994A>G	ENST00000497985.1	-	8	1302	c.864_splice	c.e8+1	p.I288_splice	PLSCR2_ENST00000336685.2_Splice_Site_p.I215_splice	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	215					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	p.I288T(1)|p.I215T(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TAGACTTACAATGAGGAAACA	0.353													16	109					0	0	0	0	G	146166994	A	G	146166994	5	3	339	1	0	0	0	0	0	0	1	0	12182	115	4	5	38	5	PLSCR2	3	146166994	Splice_Site	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	4669427	146166994	51855436	170	63178											
GPR171	29909	broad.mit.edu	37	chr3	150916865	150916865	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgacaaatgctaagaaGataattgataaatacatatt	19	12	6	4	0	0	4	0	2	0	2	0	4	0	4	0	0	3	2	0	0	8	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:150916865G>T	ENST00000309180.5	-	3	539	c.309C>A	c.(307-309)atC>atA	p.I103I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	103						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGCTAAGAAGATAATTGATA	0.418													7	78					0.00198382	0.00229771	1	0	T	150916865	G	T	150916865	2	4	339	1	0	0	0	0	0	0	0	1	6717	932	33	2		2	GPR171	3	150916865	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4749871	150916865	47105565	171	63179											
SI	6476	broad.mit.edu	37	chr3	164735340	164735340	+	Missense_Mutation	SNP	G	G	C																															aaattgatatacatacatagGggatgttagcagccaccata																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:164735340G>C	ENST00000264382.3	-	31	3817	c.3755C>G	c.(3754-3756)cCc>cGc	p.P1252R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1252	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACATACATAGGGGATGTTAGC	0.328										HNSCC(35;0.089)			4	35					0	0	0	0	C	164735340	G	C	164735340	3	2	339	1	0	0	0	0	1	0	0	0	14385	1232	43	4	1800	4	SI	3	164735340	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	13818475	164735340	33287090	172	63180	756	2									
SI	6476	broad.mit.edu	37	chr3	164735341	164735341	+	Missense_Mutation	SNP	G	G	T																															aattgatatacatacataggGgatgttagcagccaccatag																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:164735341G>T	ENST00000264382.3	-	31	3816	c.3754C>A	c.(3754-3756)Ccc>Acc	p.P1252T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1252	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CATACATAGGGGATGTTAGCA	0.333										HNSCC(35;0.089)			4	35					0.00909568	0.00997907	1	0	T	164735341	G	T	164735341	3	4	339	1	0	0	0	0	1	0	0	0	14385	1232	43	4	1801	4	SI	3	164735341	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1	164735341	33287089	173	63181	756	2									
TBL1XR1	79718	broad.mit.edu	37	chr3	176768329	176768329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttcagattcatggcccCgcaacacaacagctttatta	14	10	5	12	1	2	1	2	0	0	1	2	1	2	1	2	1	4	2	2	1	5	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:176768329C>A	ENST00000430069.1	-	6	756	c.497G>T	c.(496-498)cGg>cTg	p.R166L	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.R166L			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	166					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTCATGGCCCCGCAACACAAC	0.398													4	26					0.00024832	0.000309133	1	0	A	176768329	C	A	176768329	3	1	339	1	0	0	0	0	1	0	0	0	15734	652	23	3	1091	3	TBL1XR1	3	176768329	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	12032988	176768329	21254101	174	63182											
FXR1	8087	broad.mit.edu	37	chr3	180688083	180688083	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagacgaaggactgatgaaGatgctgttctgatggatgga	12	10	15	4	1	1	5	0	3	1	2	1	9	1	8	0	3	1	3	0	3	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:180688083G>C	ENST00000357559.4	+	15	1924	c.1540G>C	c.(1540-1542)Gat>Cat	p.D514H	FXR1_ENST00000305586.7_Missense_Mutation_p.D429H|FXR1_ENST00000491062.1_Missense_Mutation_p.D465H|FXR1_ENST00000445140.2_Missense_Mutation_p.D514H|FXR1_ENST00000480918.1_Missense_Mutation_p.D501H|FXR1_ENST00000468861.1_Missense_Mutation_p.D429H	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	514					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GACTGATGAAGATGCTGTTCT	0.413													8	46					0	0	0	0	C	180688083	G	C	180688083	3	2	339	1	0	0	0	0	1	0	0	0	6163	942	33	2	1598	2	FXR1	3	180688083	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3919754	180688083	17334347	175	63183											
PARL	55486	broad.mit.edu	37	chr3	183580544	183580544	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagctaacacaaacctgTcacagtccgctggccatcac	12	8	7	14	1	2	0	2	0	0	0	3	0	3	0	3	1	3	3	3	1	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:183580544T>A	ENST00000317096.4	-	4	568	c.508A>T	c.(508-510)Aca>Tca	p.T170S	PARL_ENST00000435888.1_Missense_Mutation_p.T170S|PARL_ENST00000311101.5_Missense_Mutation_p.T170S	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	170					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CACAAACCTGTCACAGTCCGC	0.403													8	44					0	0	0	0	A	183580544	T	A	183580544	3	1	339	1	0	0	0	0	1	0	0	0	11522	1667	58	5	659	5	PARL	3	183580544	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	2892461	183580544	14441886	176	63184											
MAP3K13	9175	broad.mit.edu	37	chr3	185169139	185169139	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatttagacattgcctctGcagatgtacttgccacccca	9	12	7	13	0	1	2	0	0	1	2	1	2	1	2	4	0	5	3	4	0	2	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:185169139G>C	ENST00000265026.3	+	7	1568	c.1234G>C	c.(1234-1236)Gca>Cca	p.A412P	MAP3K13_ENST00000424227.1_Missense_Mutation_p.A412P|MAP3K13_ENST00000446828.1_Missense_Mutation_p.A205P|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A268P|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A268P	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	412					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CATTGCCTCTGCAGATGTACT	0.428													10	47					0	0	0	0	C	185169139	G	C	185169139	3	2	339	1	0	0	0	0	1	0	0	0	9316	1319	46	4	1256	4	MAP3K13	3	185169139	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1588595	185169139	12853291	177	63185											
LIPH	200879	broad.mit.edu	37	chr3	185252694	185252694	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaacagagagcaaacccttTactaagtcatccatccaaac	16	8	4	13	0	2	1	2	0	0	1	4	2	4	1	3	0	5	1	3	0	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:185252694T>C	ENST00000296252.4	-	2	417	c.276A>G	c.(274-276)gtA>gtG	p.V92V	LIPH_ENST00000424591.2_Silent_p.V92V	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	92					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GCAAACCCTTTACTAAGTCAT	0.438													12	118					0	0	0	0	C	185252694	T	C	185252694	2	2	339	1	0	0	0	0	0	0	0	1	8879	1741	61	5		5	LIPH	3	185252694	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	83555	185252694	12769736	178	63186											
CCDC50	152137	broad.mit.edu	37	chr3	191075800	191075800	+	Frame_Shift_Del	DEL	G	G	-																															gttccagttgagcatcatttGgcatcgaacgttcagcggaa																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:191075800delG	ENST00000392455.3	+	3	724	c.126delG	c.(124-126)ttfs	p.L42fs	CCDC50_ENST00000392456.3_Frame_Shift_Del_p.L42fs	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	42						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGCATCATTTGGCATCGAACG	0.443													28	99	---	---	---	---					-	191075800	G	-	191075800	7	5	339	1	0	1	0	1	0	0	0	0	2847	1339	47	0	136	0	CCDC50	3	191075800	Frame_Shift_Del	DEL	G	TCGA-CV-A45Z-01A-21D-A25D-08	5823106	191075800	6946630	179	63187											
FGF12	2257	broad.mit.edu	37	chr3	191861799	191861799	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaggggagagttctcagcTatgttgaatcttgattcaca	12	12	11	6	0	3	4	2	2	2	2	4	5	3	4	0	2	1	3	0	2	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:191861799T>A	ENST00000454309.2	-	5	1556	c.731A>T	c.(730-732)tAg>tTg	p.*244L	FGF12_ENST00000450716.1_Nonstop_Mutation_p.*182L|FGF12_ENST00000445105.1_Nonstop_Mutation_p.*182L|FGF12_ENST00000430714.1_Nonstop_Mutation_p.*145L|FGF12_ENST00000264730.3_Nonstop_Mutation_p.*182L	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	0					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		agTTCTCAGCTATGTTGAATC	0.453													12	114					0	0	0	0	A	191861799	T	A	191861799	4	1	339	1	0	0	0	0	0	0	0	0	5886	1535	53	5	4	5	FGF12	3	191861799	Nonstop_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	785999	191861799	6160631	180	63188											
ATP13A4	84239	broad.mit.edu	37	chr3	193132481	193132481	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtagcagaggtggagaGatcagccgtcctgcaggtct	10	7	16	8	1	2	3	1	0	1	3	3	6	3	4	2	3	3	3	2	3	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:193132481G>T	ENST00000342695.4	-	26	3223	c.2901C>A	c.(2899-2901)atC>atA	p.I967I	ATP13A4_ENST00000400270.2_5'UTR|ATP13A4_ENST00000392443.3_Silent_p.I948I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	967					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GAGGTGGAGAGATCAGCCGTC	0.453													6	64					5.18039e-06	7.32621e-06	1	0	T	193132481	G	T	193132481	2	4	339	1	0	0	0	0	0	0	0	1	1130	932	33	2		2	ATP13A4	3	193132481	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1270682	193132481	4889949	181	63189											
ATP13A4	84239	broad.mit.edu	37	chr3	193232586	193232586	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtaaaacaccaaggggagGattccaaatgagaagatgga	18	5	12	6	0	0	2	0	1	0	2	1	6	1	5	2	4	1	1	2	4	5	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:193232586G>T	ENST00000342695.4	-	2	457	c.135C>A	c.(133-135)atC>atA	p.I45I	ATP13A4_ENST00000295548.3_Silent_p.I45I|ATP13A4_ENST00000392443.3_Silent_p.I45I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	45					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAAGGGGAGGATTCCAAATG	0.498													11	65					4.68919e-08	7.32186e-08	1	0	T	193232586	G	T	193232586	2	4	339	1	0	0	0	0	0	0	0	1	1130	1164	41	2		2	ATP13A4	3	193232586	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	100105	193232586	4789844	182	63190											
PCGF3	10336	broad.mit.edu	37	chr4	727519	727519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaacgcccacatcacctGccgcctgtgcagcgggtacc	8	6	9	18	3	2	0	2	0	0	0	2	0	2	0	5	1	5	2	5	1	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:727519G>T	ENST00000362003.5	+	4	445	c.50G>T	c.(49-51)tGc>tTc	p.C17F	PCGF3_ENST00000505655.2_Missense_Mutation_p.C17F|PCGF3_ENST00000482726.1_3'UTR|PCGF3_ENST00000470161.2_Missense_Mutation_p.C17F|PCGF3_ENST00000521023.2_5'UTR|PCGF3_ENST00000400151.2_Missense_Mutation_p.C17F	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CACATCACCTGCCGCCTGTGC	0.582													5	37					0.000602214	0.000724082	1	0	T	727519	G	T	727519	3	4	339	1	0	0	0	0	1	0	0	0	11647	1319	46	4	52	4	PCGF3	4	727519	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08		727519	190426757	183	63191											
SH3BP2	6452	broad.mit.edu	37	chr4	2822453	2822453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggctacctgcacaagaagGgcggtacccagctgcagctg	9	6	13	13	1	0	1	0	0	0	1	0	1	0	1	2	3	6	6	2	3	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:2822453G>T	ENST00000442312.2	+	2	372	c.193G>T	c.(193-195)Ggc>Tgc	p.G65C	SH3BP2_ENST00000435136.2_Missense_Mutation_p.G37C|SH3BP2_ENST00000511747.1_Missense_Mutation_p.G37C|SH3BP2_ENST00000389838.2_Missense_Mutation_p.G37C|SH3BP2_ENST00000452765.2_Missense_Mutation_p.G37C|SH3BP2_ENST00000503393.2_Missense_Mutation_p.G94C|SH3BP2_ENST00000356331.5_Missense_Mutation_p.G37C	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	37	PH.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GCACAAGAAGGGCGGTACCCA	0.592									Cherubism				8	25					1.06961e-07	1.64764e-07	1	0	T	2822453	G	T	2822453	3	4	339	1	0	0	0	0	1	0	0	0	14332	1232	43	4	370	4	SH3BP2	4	2822453	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2094934	2822453	188331823	184	63192											
EVC2	132884	broad.mit.edu	37	chr4	5627630	5627630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttggtcttcatccaggtacCctgctctagatggaaaggat	9	13	10	9	0	3	1	1	0	2	1	4	3	4	3	2	4	2	2	2	4	3	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:5627630C>T	ENST00000310917.2	-	13	2383	c.1652G>A	c.(1651-1653)gGg>gAg	p.G551E	EVC2_ENST00000344938.1_Missense_Mutation_p.G631E|EVC2_ENST00000344408.5_Missense_Mutation_p.G631E	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	631						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ATCCAGGTACCCTGCTCTAGA	0.418													3	25					0	0	0	0	T	5627630	C	T	5627630	3	4	339	1	0	0	0	0	1	0	0	0	5324	623	22	4	2074	4	EVC2	4	5627630	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2805177	5627630	185526646	185	63193											
CPEB2	132864	broad.mit.edu	37	chr4	15063786	15063786	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctgagctaaaatacccaAaaggtgctgggcgagttgct	12	9	11	9	1	0	1	0	1	0	0	1	2	1	1	2	2	4	4	2	2	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:15063786A>G	ENST00000538197.1	+	11	2779	c.2779A>G	c.(2779-2781)Aaa>Gaa	p.K927E	CPEB2_ENST00000345451.3_Missense_Mutation_p.K452E|CPEB2_ENST00000507071.1_Missense_Mutation_p.K482E|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382401.3_Missense_Mutation_p.K455E|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382395.3_Missense_Mutation_p.K460E|CPEB2_ENST00000442003.2_Missense_Mutation_p.K900E|CPEB2_ENST00000541112.1_Missense_Mutation_p.K919E|CPEB2_ENST00000259997.5_Missense_Mutation_p.K490E	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	482					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AAAATACCCAAAAGGTGCTGG	0.433													16	107					0	0	0	0	G	15063786	A	G	15063786	3	3	339	1	0	0	0	0	1	0	0	0	3831	15	1	5	2830	5	CPEB2	4	15063786	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	9436156	15063786	176090490	186	63194											
KCTD8	386617	broad.mit.edu	37	chr4	44450346	44450346	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctggccaaagtactgtccggGacgctgagcagcgtcgagtg	8	7	15	11	4	0	1	0	1	0	0	2	3	1	2	2	2	3	3	2	2	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:44450346G>C	ENST00000360029.3	-	1	478	c.195C>G	c.(193-195)gtC>gtG	p.V65V		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	65	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TACTGTCCGGGACGCTGAGCA	0.692										HNSCC(17;0.042)			3	16					0	0	0	0	C	44450346	G	C	44450346	2	2	339	1	0	0	0	0	0	0	0	1	8168	1161	41	2		2	KCTD8	4	44450346	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	29386560	44450346	146703930	187	63195											
GABRG1	2565	broad.mit.edu	37	chr4	46043027	46043027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagtaaagatagccaaccCaataaaccaagttgaacagg	20	6	7	8	0	0	2	0	1	0	1	0	2	0	2	3	1	4	2	3	1	10	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:46043027C>A	ENST00000295452.4	-	9	1543	c.1376G>T	c.(1375-1377)tGg>tTg	p.W459L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	459					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATAGCCAACCCAATAAACCAA	0.348													7	40					0.0293803	0.0311868	1	0	A	46043027	C	A	46043027	3	1	339	1	0	0	0	0	1	0	0	0	6219	595	21	4	25	4	GABRG1	4	46043027	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1592681	46043027	145111249	188	63196											
GABRB1	2560	broad.mit.edu	37	chr4	47427970	47427970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attccatagacaagtggtccCgaatgtttttccccatcacc	10	12	6	13	1	1	1	1	0	0	1	4	2	4	1	5	1	0	1	5	1	3	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:47427970C>G	ENST00000295454.3	+	9	1652	c.1360C>G	c.(1360-1362)Cga>Gga	p.R454G	GABRB1_ENST00000538619.1_Missense_Mutation_p.R384G	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	454					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAAGTGGTCCCGAATGTTTTT	0.483													7	67					0	0	0	0	G	47427970	C	G	47427970	3	3	339	1	0	0	0	0	1	0	0	0	6214	644	23	3	1394	3	GABRB1	4	47427970	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1384943	47427970	143726306	189	63197											
CORIN	10699	broad.mit.edu	37	chr4	47682191	47682191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagacttatccacacagtCgtggtcaccatcacacaccc	11	8	6	16	1	3	1	3	0	0	1	5	1	4	1	3	1	0	0	3	1	1	1	rs150957535		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:47682191C>A	ENST00000273857.4	-	8	1098	c.1099G>T	c.(1099-1101)Gac>Tac	p.D367Y	CORIN_ENST00000504584.1_Intron|CORIN_ENST00000508498.1_Missense_Mutation_p.D228Y|CORIN_ENST00000505909.1_Intron|CORIN_ENST00000502252.1_Missense_Mutation_p.D300Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	367	LDL-receptor class A 3.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCCACACAGTCGTGGTCACCA	0.507													4	17					0.00024832	0.000309133	1	0	A	47682191	C	A	47682191	3	1	339	1	0	0	0	0	1	0	0	0	3782	884	31	3	2089	3	CORIN	4	47682191	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	254221	47682191	143472085	190	63198											
TXK	7294	broad.mit.edu	37	chr4	48097200	48097200	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaattgtgtaggatcctaAatgtcttgaatctctgacaa	13	13	9	6	0	2	2	0	2	2	0	4	4	3	4	1	2	0	1	1	2	6	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:48097200A>T	ENST00000264316.4	-	7	626	c.541T>A	c.(541-543)Tta>Ata	p.L181I	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	181	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TAGGATCCTAAATGTCTTGAA	0.343													9	24					0	0	0	0	T	48097200	A	T	48097200	3	4	339	1	0	0	0	0	1	0	0	0	16882	11	1	5	1078	5	TXK	4	48097200	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	415009	48097200	143057076	191	63199											
LRRC66	339977	broad.mit.edu	37	chr4	52869413	52869413	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattttttgaggtccttgaaGgcttgtgggggaattttgaa	9	16	13	3	0	0	3	0	3	0	0	1	4	1	4	1	4	0	1	1	4	4	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:52869413G>A	ENST00000343457.3	-	2	648	c.642C>T	c.(640-642)gcC>gcT	p.A214A		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	214						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGTCCTTGAAGGCTTGTGGGG	0.343													5	51					0	0	0	0	A	52869413	G	A	52869413	2	1	339	1	0	0	0	0	0	0	0	1	9082	987	35	4		4	LRRC66	4	52869413	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4772213	52869413	138284863	192	63200											
PDGFRA	5156	broad.mit.edu	37	chr4	55144595	55144595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactatttgcataagaataGggatagcttcctgagccacc	13	10	8	10	0	0	2	0	1	0	1	1	3	1	3	3	1	4	2	3	1	6	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:55144595G>T	ENST00000257290.5	+	15	2400	c.2069G>T	c.(2068-2070)aGg>aTg	p.R690M	FIP1L1_ENST00000507166.1_Missense_Mutation_p.R450M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	690	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CATAAGAATAGGGATAGCTTC	0.463			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			6	45					3.59834e-05	4.78558e-05	1	0	T	55144595	G	T	55144595	3	4	339	1	0	0	0	0	1	0	0	0	11732	1000	35	4	2123	4	PDGFRA	4	55144595	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2275182	55144595	136009681	193	63201											
LPHN3	23284	broad.mit.edu	37	chr4	62453100	62453100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatttgtgactctgaccctGctcagatggagaatatccga	12	11	9	9	1	2	4	1	2	1	2	3	6	3	4	2	1	1	1	2	1	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:62453100G>T	ENST00000512091.1	+	4	958	c.211G>T	c.(211-213)Gct>Tct	p.A71S	LPHN3_ENST00000514157.1_Missense_Mutation_p.A71S|LPHN3_ENST00000511324.1_Missense_Mutation_p.A139S|LPHN3_ENST00000506720.1_Missense_Mutation_p.A139S|LPHN3_ENST00000504896.1_Missense_Mutation_p.A71S|LPHN3_ENST00000506746.1_Missense_Mutation_p.A139S|LPHN3_ENST00000514591.1_Missense_Mutation_p.A71S|LPHN3_ENST00000508693.1_Missense_Mutation_p.A139S|LPHN3_ENST00000509896.1_Missense_Mutation_p.A139S|LPHN3_ENST00000508946.1_Missense_Mutation_p.A71S|LPHN3_ENST00000507164.1_Missense_Mutation_p.A139S|LPHN3_ENST00000545650.1_Missense_Mutation_p.A71S|LPHN3_ENST00000507625.1_Missense_Mutation_p.A139S|LPHN3_ENST00000514996.1_Missense_Mutation_p.A71S|LPHN3_ENST00000506700.1_Missense_Mutation_p.A71S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	71	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTCTGACCCTGCTCAGATGGA	0.398													4	13					0.00909568	0.00997907	1	0	T	62453100	G	T	62453100	3	4	339	1	0	0	0	0	1	0	0	0	8981	1319	46	4	217	4	LPHN3	4	62453100	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	7308505	62453100	128701176	194	63202											
SULT1B1	27284	broad.mit.edu	37	chr4	70620441	70620441	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acattggaactttttcagtaAtaaaacctcgcttacatttt	13	16	4	8	1	1	0	1	0	0	0	2	1	1	1	1	1	3	2	1	1	5	8			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:70620441A>T	ENST00000310613.2	-	3	521	c.224T>A	c.(223-225)aTt>aAt	p.I75N		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	75					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTTTTCAGTAATAAAACCTCG	0.308													8	56					0	0	0	0	T	70620441	A	T	70620441	3	4	339	1	0	0	0	0	1	0	0	0	15466	101	4	5	690	5	SULT1B1	4	70620441	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	8167341	70620441	120533835	195	63203											
ENAM	10117	broad.mit.edu	37	chr4	71507981	71507981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaccccaggactaaacactGggaacaaccctccagctcaa	14	5	7	15	0	1	0	1	0	0	0	2	2	2	2	4	2	5	2	4	2	6	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:71507981G>T	ENST00000396073.3	+	9	1119	c.838G>T	c.(838-840)Ggg>Tgg	p.G280W	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	280					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACTAAACACTGGGAACAACCC	0.532													6	58					0.00116845	0.00137597	1	0	T	71507981	G	T	71507981	3	4	339	1	0	0	0	0	1	0	0	0	5150	1348	47	4	868	4	ENAM	4	71507981	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	887540	71507981	119646295	196	63204											
NPFFR2	10886	broad.mit.edu	37	chr4	73013189	73013189	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttctccaaatgaactgcAgatcatcaacatctacatct	13	12	3	13	0	5	2	2	1	3	1	6	2	5	2	2	0	4	1	2	0	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:73013189A>T	ENST00000308744.6	+	4	1327	c.1229A>T	c.(1228-1230)cAg>cTg	p.Q410L	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.Q308L|NPFFR2_ENST00000395999.1_Missense_Mutation_p.Q311L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	410					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)			AATGAACTGCAGATCATCAAC	0.468													12	68					0	0	0	0	T	73013189	A	T	73013189	3	4	339	1	0	0	0	0	1	0	0	0	10648	188	7	5	1249	5	NPFFR2	4	73013189	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	1505208	73013189	118141087	197	63205											
ANKRD17	26057	broad.mit.edu	37	chr4	74043124	74043124	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctagtaaagcttccagtcTagcctgtgtttctggatcta	8	16	8	9	0	4	0	0	0	4	0	5	1	5	1	2	1	2	3	2	1	5	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:74043124T>C	ENST00000358602.4	-	2	636	c.520A>G	c.(520-522)Aga>Gga	p.R174G	ANKRD17_ENST00000330838.6_Missense_Mutation_p.R174G|ANKRD17_ENST00000509867.2_Missense_Mutation_p.R61G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	174					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTTCCAGTCTAGCCTGTGTT	0.403													7	30					0	0	0	0	C	74043124	T	C	74043124	3	2	339	1	0	0	0	0	1	0	0	0	646	1530	53	5	7423	5	ANKRD17	4	74043124	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	1029935	74043124	117111152	198	63206											
ALB	213	broad.mit.edu	37	chr4	74274354	74274354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacagttgcaactcttcGtgaaacctatggtgaaatgg	12	11	10	8	1	1	2	0	2	1	0	2	2	1	2	1	2	4	3	1	2	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:74274354G>T	ENST00000295897.4	+	4	403	c.314G>T	c.(313-315)cGt>cTt	p.R105L	ALB_ENST00000503124.1_Intron|ALB_ENST00000505649.1_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.R105L	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	105	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GCAACTCTTCGTGAAACCTAT	0.423													3	25					6.4e-05	8.32002e-05	1	0	T	74274354	G	T	74274354	3	4	339	1	0	0	0	0	1	0	0	0	486	1145	40	3	328	3	ALB	4	74274354	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	231230	74274354	116879922	199	63207											
FRAS1	80144	broad.mit.edu	37	chr4	79434686	79434686	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccaatttagttaccacctAtgacctgagaggcatctcag	11	11	7	12	0	1	2	1	2	1	1	3	3	2	2	4	1	1	2	4	1	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:79434686A>G	ENST00000264895.6	+	65	10594	c.10154A>G	c.(10153-10155)tAt>tGt	p.Y3385C		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3380					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTACCACCTATGACCTGAGA	0.483													10	56					0	0	0	0	G	79434686	A	G	79434686	3	3	339	1	0	0	0	0	1	0	0	0	6089	449	16	5	10487	5	FRAS1	4	79434686	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	5160332	79434686	111719590	200	63208											
RASGEF1B	153020	broad.mit.edu	37	chr4	82369429	82369429	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgctggacattctttcTgtatgtctgctagggaataa	9	16	9	7	0	3	0	0	0	3	0	3	2	3	2	0	2	2	3	0	2	4	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:82369429T>C	ENST00000509081.1	-	5	666	c.445A>G	c.(445-447)Aga>Gga	p.R149G	RASGEF1B_ENST00000264400.2_Missense_Mutation_p.R150G|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.R108G			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	150	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ACATTCTTTCTGTATGTCTGC	0.468													13	63					0	0	0	0	C	82369429	T	C	82369429	3	2	339	1	0	0	0	0	1	0	0	0	13152	1588	55	5	1013	5	RASGEF1B	4	82369429	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	2934743	82369429	108784847	201	63209											
CDS1	1040	broad.mit.edu	37	chr4	85562099	85562099	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcagaacttttccagcttCagacttactcacttccaccc	9	12	3	17	0	3	2	3	0	0	2	5	2	5	2	4	0	3	1	4	0	2	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:85562099C>T	ENST00000295887.5	+	10	1411	c.988C>T	c.(988-990)Cag>Tag	p.Q330*		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	330					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTTCCAGCTTCAGACTTACTC	0.418													6	63					0	0	0	0	T	85562099	C	T	85562099	4	4	339	1	0	0	0	0	0	1	0	0	3206	827	29	2	1026	2	CDS1	4	85562099	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3192670	85562099	105592177	202	63210											
TIGD2	166815	broad.mit.edu	37	chr4	90035011	90035011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttagatttccccccaGcacgtccaaatgaagaaatg	12	12	6	11	1	1	3	0	1	1	2	3	3	3	3	4	0	1	1	4	0	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:90035011G>A	ENST00000317005.2	+	1	1044	c.886G>A	c.(886-888)Gca>Aca	p.A296T		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	296	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TTTCCCCCCAGCACGTCCAAA	0.413													6	44					0	0	0	0	A	90035011	G	A	90035011	3	1	339	1	0	0	0	0	1	0	0	0	15990	971	34	4	888	4	TIGD2	4	90035011	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4472912	90035011	101119265	203	63211											
GRID2	2895	broad.mit.edu	37	chr4	94376932	94376932	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgaagggctgaaaagacAgtggatatgtttgcctgtct	10	12	12	7	1	1	2	0	1	1	1	2	4	1	3	1	2	1	2	1	2	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:94376932A>T	ENST00000282020.4	+	11	1923	c.1665A>T	c.(1663-1665)acA>acT	p.T555T	GRID2_ENST00000510992.1_Silent_p.T460T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	555					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTGAAAAGACAGTGGATATGT	0.478													9	70					0	0	0	0	T	94376932	A	T	94376932	2	4	339	1	0	0	0	0	0	0	0	1	6822	175	7	5		5	GRID2	4	94376932	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	4341921	94376932	96777344	204	63212											
GRID2	2895	broad.mit.edu	37	chr4	94377085	94377086	+	Frame_Shift_Ins	INS	-	-	A																															tgacgtctactactctctacINSaactccatgtggtttgtgta																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:94377085_94377086insA	ENST00000282020.4	+	11	2076_2077	c.1818_1819insA	c.(1816-1821)taactcfs	p.L607fs	GRID2_ENST00000510992.1_Frame_Shift_Ins_p.L512fs	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	607					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTACTCTCTACAACTCCATGTG	0.406													9	70	---	---	---	---					A	94377086	-	A	94377085	7	5	339	1	0	1	1	0	0	0	0	0	6822	489	17	0	1860	0	GRID2	4	94377085	Frame_Shift_Ins	INS	-	TCGA-CV-A45Z-01A-21D-A25D-08	153	94377085	96777191	205	63213											
UNC5C	8633	broad.mit.edu	37	chr4	96106222	96106222	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttagccagcaatttgctCttccagagggaatgggcgat	10	12	11	8	1	1	1	0	0	1	1	2	3	2	2	2	2	3	2	2	2	4	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:96106222C>T	ENST00000453304.1	-	13	2610	c.2262G>A	c.(2260-2262)aaG>aaA	p.K754K		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	754					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCAATTTGCTCTTCCAGAGGG	0.448													9	75					0	0	0	0	T	96106222	C	T	96106222	2	4	339	1	0	0	0	0	0	0	0	1	17089	912	32	2		2	UNC5C	4	96106222	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1729137	96106222	95048054	206	63214											
UNC5C	8633	broad.mit.edu	37	chr4	96469911	96469911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggcggagccagtgccgctgGcgctgagcagggccagggca	6	3	19	13	4	0	1	0	1	0	0	0	2	0	2	3	5	3	4	3	5	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:96469911G>T	ENST00000453304.1	-	1	446	c.98C>A	c.(97-99)gCc>gAc	p.A33D	UNC5C_ENST00000506749.1_Missense_Mutation_p.A33D|UNC5C_ENST00000504962.1_Missense_Mutation_p.A33D	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	33					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGTGCCGCTGGCGCTGAGCAG	0.667													4	26					5.9392e-07	8.85076e-07	1	0	T	96469911	G	T	96469911	3	4	339	1	0	0	0	0	1	0	0	0	17089	1203	42	4	2761	4	UNC5C	4	96469911	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	363689	96469911	94684365	207	63215											
PDHA2	5161	broad.mit.edu	37	chr4	96761560	96761560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaacagaaattcattcgcGgtttctgtcacctgtgcgat	11	12	8	10	3	3	1	2	0	1	1	4	2	3	1	1	1	2	1	1	1	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:96761560G>T	ENST00000295266.4	+	1	322	c.259G>T	c.(259-261)Ggt>Tgt	p.G87C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	87					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATTCATTCGCGGTTTCTGTCA	0.522													10	63					0.000442599	0.00054214	1	0	T	96761560	G	T	96761560	3	4	339	1	0	0	0	0	1	0	0	0	11736	1116	39	3	261	3	PDHA2	4	96761560	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	291649	96761560	94392716	208	63216											
PDHA2	5161	broad.mit.edu	37	chr4	96761821	96761821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagggccccctgggcgctGgcattgctctggcctgtaaa	6	8	13	14	1	1	0	0	0	1	0	1	0	1	0	3	4	1	4	3	4	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:96761821G>A	ENST00000295266.4	+	1	583	c.520G>A	c.(520-522)Ggc>Agc	p.G174S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	174					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCTGGGCGCTGGCATTGCTCT	0.502													12	58					0	0	0	0	A	96761821	G	A	96761821	3	1	339	1	0	0	0	0	1	0	0	0	11736	1348	47	4	522	4	PDHA2	4	96761821	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	261	96761821	94392455	209	63217											
CXXC4	80319	broad.mit.edu	37	chr4	105412265	105412265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcggaaaaagtccccacgCgctcggggagattcattatc	11	8	11	11	4	1	1	1	0	0	1	4	3	2	2	2	3	1	1	2	3	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:105412265C>T	ENST00000394767.2	-	2	1145	c.695G>A	c.(694-696)cGc>cAc	p.R232H	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_Missense_Mutation_p.R63H|CXXC4_ENST00000466963.1_Intron	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	63					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		AGTCCCCACGCGCTCGGGGAG	0.572													16	90					0	0	0	0	T	105412265	C	T	105412265	3	4	339	1	0	0	0	0	1	0	0	0	4130	768	27	1	416	1	CXXC4	4	105412265	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	8650444	105412265	85742011	210	63218											
PAPSS1	9061	broad.mit.edu	37	chr4	108608319	108608319	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccttcatgaatttgcctTgcattgttgcgatccttaaa	9	15	7	10	1	1	1	1	1	0	0	2	2	2	1	3	0	3	3	3	0	3	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:108608319T>C	ENST00000265174.4	-	4	698	c.426A>G	c.(424-426)gcA>gcG	p.A142A	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	142					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GAATTTGCCTTGCATTGTTGC	0.323													5	40					0	0	0	0	C	108608319	T	C	108608319	2	2	339	1	0	0	0	0	0	0	0	1	11505	1799	63	5		5	PAPSS1	4	108608319	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	3196054	108608319	82545957	211	63219											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005950	118005950	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggaagaggtgaagaccAatgtagacaagttgacgagg	15	7	15	4	1	0	5	0	2	0	3	0	7	0	6	1	3	0	2	1	3	5	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:118005950A>T	ENST00000310754.4	-	1	786	c.600T>A	c.(598-600)atT>atA	p.I200I		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	200	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GGTGAAGACCAATGTAGACAA	0.383													14	66					0	0	0	0	T	118005950	A	T	118005950	2	4	339	1	0	0	0	0	0	0	0	1	16547	126	5	5		5	TRAM1L1	4	118005950	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	9397631	118005950	73148326	212	63220											
SYNPO2	171024	broad.mit.edu	37	chr4	119951385	119951385	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagatggagatgttaccAgacaccacaggcaagggagc	15	4	13	9	0	0	3	0	0	0	3	0	6	0	4	2	3	2	2	2	3	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:119951385A>G	ENST00000307142.4	+	4	1651	c.1455A>G	c.(1453-1455)ccA>ccG	p.P485P	SYNPO2_ENST00000429713.2_Silent_p.P485P|SYNPO2_ENST00000434046.2_Silent_p.P485P|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	485						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGATGTTACCAGACACCACAG	0.488													5	22					0	0	0	0	G	119951385	A	G	119951385	2	3	339	1	0	0	0	0	0	0	0	1	15548	175	7	5		5	SYNPO2	4	119951385	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	1945435	119951385	71202891	213	63221											
ADAD1	132612	broad.mit.edu	37	chr4	123314743	123314743	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtttttgttttgtttacaGgtcctcctcctttccctgca	4	20	6	11	0	0	0	0	0	0	0	4	0	4	0	4	1	2	4	4	1	1	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:123314743G>T	ENST00000296513.2	+	6	714		c.e6-1		ADAD1_ENST00000388724.2_Splice_Site|ADAD1_ENST00000492454.1_Splice_Site|ADAD1_ENST00000388725.2_Splice_Site	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)						multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGTTTACAGGTCCTCCTCC	0.318													6	27					0.217242	0.220863	1	0	T	123314743	G	T	123314743	5	4	339	1	0	0	0	0	0	0	1	0	231	1014	35	4	543	4	ADAD1	4	123314743	Splice_Site	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3363358	123314743	67839533	214	63222											
FAT4	79633	broad.mit.edu	37	chr4	126336532	126336532	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctctctcttcatctacAgaggttgtagttatggtact	8	16	7	10	0	4	1	1	0	3	1	6	1	4	1	1	2	2	4	1	2	4	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:126336532A>T	ENST00000394329.3	+	5	6427	c.6414A>T	c.(6412-6414)acA>acT	p.T2138T	FAT4_ENST00000335110.5_Silent_p.T436T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2138	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCATCTACAGAGGTTGTAG	0.398													16	76					0	0	0	0	T	126336532	A	T	126336532	2	4	339	1	0	0	0	0	0	0	0	1	5737	175	7	5		5	FAT4	4	126336532	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	3021789	126336532	64817744	215	63223											
PCDH10	57575	broad.mit.edu	37	chr4	134072289	134072289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtgtacgtgcaagccaagGacctgggccccaacgccgtg	10	5	13	13	3	0	0	0	0	0	0	0	1	0	1	5	2	4	2	5	2	5	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:134072289G>T	ENST00000264360.4	+	1	1820	c.994G>T	c.(994-996)Gac>Tac	p.D332Y		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	332	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCAAGCCAAGGACCTGGGCCC	0.592													7	73					0.00198382	0.00229771	1	0	T	134072289	G	T	134072289	3	4	339	1	0	0	0	0	1	0	0	0	11578	1174	41	2	996	2	PCDH10	4	134072289	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	7735757	134072289	57081987	216	63224											
PCDH18	54510	broad.mit.edu	37	chr4	138450881	138450881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggctgcccatctgccCtctttctaaggtaggagatg	6	11	11	13	1	3	1	0	0	3	1	3	2	3	1	3	3	3	2	3	3	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:138450881C>T	ENST00000344876.4	-	1	2748	c.2362G>A	c.(2362-2364)Ggg>Agg	p.G788R	PCDH18_ENST00000412923.2_Missense_Mutation_p.G788R|PCDH18_ENST00000507846.1_Missense_Mutation_p.G568R|PCDH18_ENST00000510305.1_5'UTR|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	788					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCCATCTGCCCTCTTTCTAAG	0.478													10	45					0	0	0	0	T	138450881	C	T	138450881	3	4	339	1	0	0	0	0	1	0	0	0	11584	681	24	4	1061	4	PCDH18	4	138450881	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	4378592	138450881	52703395	217	63225											
FBXW7	55294	broad.mit.edu	37	chr4	153249524	153249524	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catactccacctgtatgtccCactaatgttctcagacactg	10	12	5	14	0	1	1	1	0	1	1	4	1	3	1	3	0	1	2	3	0	3	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:153249524C>A	ENST00000281708.4	-	9	2483	c.1254G>T	c.(1252-1254)gtG>gtT	p.V418V	FBXW7_ENST00000393956.3_Silent_p.V242V|FBXW7_ENST00000603841.1_Silent_p.V418V|FBXW7_ENST00000263981.5_Silent_p.V338V|FBXW7_ENST00000603548.1_Silent_p.V418V|FBXW7_ENST00000296555.5_Silent_p.V300V	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	418					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTGTATGTCCCACTAATGTTC	0.363			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								19	119					5.3912e-06	7.61258e-06	1	0	A	153249524	C	A	153249524	2	1	339	1	0	0	0	0	0	0	0	1	5814	581	21	4		4	FBXW7	4	153249524	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	14798643	153249524	37904752	218	63226											
TMEM154	201799	broad.mit.edu	37	chr4	153565595	153565595	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttcacttcccagttcatCtaaaaggaaatgaacataaa	16	12	5	8	0	3	1	2	1	1	0	4	2	4	2	1	1	1	2	1	1	6	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:153565595C>T	ENST00000304385.3	-	4	596		c.e4-1			NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154							integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCCAGTTCATCTAAAAGGAAA	0.398													4	17					0	0	0	0	T	153565595	C	T	153565595	5	4	339	1	0	0	0	0	0	0	1	0	16165	927	32	2	203	2	TMEM154	4	153565595	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	316071	153565595	37588681	219	63227											
GUCY1A3	2982	broad.mit.edu	37	chr4	156618270	156618270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgcaaactgattttccCagaggtgagtgcgtgctctt	8	15	10	8	1	1	3	0	2	1	1	2	3	2	3	1	1	4	2	1	1	2	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:156618270C>A	ENST00000296518.7	+	3	460	c.251C>A	c.(250-252)cCa>cAa	p.P84Q	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	84					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTGATTTTCCCAGAGGTGAGT	0.368													6	45					5.9392e-07	8.85076e-07	1	0	A	156618270	C	A	156618270	3	1	339	1	0	0	0	0	1	0	0	0	6944	594	21	4	253	4	GUCY1A3	4	156618270	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3052675	156618270	34536006	220	63228											
GUCY1A3	2982	broad.mit.edu	37	chr4	156634659	156634659	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgctcccagtgctcacCgctgcaggtcatcaccatgc	7	9	8	17	1	4	0	3	0	1	0	5	0	5	0	3	1	4	4	3	1	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:156634659C>G	ENST00000296518.7	+	7	1705	c.1496C>G	c.(1495-1497)cCg>cGg	p.P499R	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P499R|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P499R|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P499R|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P499R|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P499R|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.P241R			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	499	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAGTGCTCACCGCTGCAGGTC	0.522													7	24					0	0	0	0	G	156634659	C	G	156634659	3	3	339	1	0	0	0	0	1	0	0	0	6944	652	23	3	1529	3	GUCY1A3	4	156634659	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	16389	156634659	34519617	221	63229											
GUCY1A3	2982	broad.mit.edu	37	chr4	156638394	156638394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgttcagatagcgctgatGgccctgaagatgatggagct	9	10	14	8	1	1	5	1	3	0	2	1	6	1	6	1	2	2	4	1	2	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:156638394G>T	ENST00000296518.7	+	8	1865	c.1656G>T	c.(1654-1656)atG>atT	p.M552I	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.M552I|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.M552I|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.M552I|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.M552I|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.M552I|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.M294I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	552	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TAGCGCTGATGGCCCTGAAGA	0.438													4	25					2.56e-06	3.67147e-06	1	0	T	156638394	G	T	156638394	3	4	339	1	0	0	0	0	1	0	0	0	6944	1348	47	4	1693	4	GUCY1A3	4	156638394	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3735	156638394	34515882	222	63230											
TDO2	6999	broad.mit.edu	37	chr4	156825226	156825226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagacaaatcacaaactgGtgtgaatagagccagcaaag	19	5	10	7	0	1	4	1	1	0	3	1	4	1	4	1	1	3	1	1	1	6	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:156825226G>C	ENST00000536354.2	+	2	156	c.92G>C	c.(91-93)gGt>gCt	p.G31A		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	31					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TCACAAACTGGTGTGAATAGA	0.403													4	28					0	0	0	0	C	156825226	G	C	156825226	3	2	339	1	0	0	0	0	1	0	0	0	15821	1261	44	4	98	4	TDO2	4	156825226	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	186832	156825226	34329050	223	63231											
FSTL5	56884	broad.mit.edu	37	chr4	162508697	162508697	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgagttgtggtaaccttagTaatatacaaggacccatcat	13	12	9	7	0	1	1	1	1	0	0	1	2	1	2	2	2	2	3	2	2	6	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:162508697T>A	ENST00000306100.5	-	8	1361	c.925A>T	c.(925-927)Act>Tct	p.T309S	FSTL5_ENST00000427802.2_Missense_Mutation_p.T308S|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Missense_Mutation_p.T308S|FSTL5_ENST00000379164.4_Missense_Mutation_p.T308S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	309	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTAACCTTAGTAATATACAAG	0.338													6	52					0	0	0	0	A	162508697	T	A	162508697	3	1	339	1	0	0	0	0	1	0	0	0	6128	1638	57	5	1654	5	FSTL5	4	162508697	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	5683471	162508697	28645579	224	63232											
TLL1	7092	broad.mit.edu	37	chr4	166795134	166795134	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttttctacggggagctatgGgtctgcgctggcctcgatta	5	13	14	9	3	2	0	0	0	2	0	3	2	2	1	1	4	3	3	1	4	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:166795134G>C	ENST00000061240.2	+	1	725	c.78G>C	c.(76-78)tgG>tgC	p.W26C	TLL1_ENST00000513213.1_Missense_Mutation_p.W26C|TLL1_ENST00000507499.1_Missense_Mutation_p.W26C	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	26					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGGAGCTATGGGTCTGCGCTG	0.537													13	93					0	0	0	0	C	166795134	G	C	166795134	3	2	339	1	0	0	0	0	1	0	0	0	16039	1241	43	4	80	4	TLL1	4	166795134	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4286437	166795134	24359142	225	63233											
DDX60	55601	broad.mit.edu	37	chr4	169201591	169201591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacaggatttcaaaaaatCttccaggctctttattccag	12	15	5	9	0	3	0	1	0	2	0	5	1	5	1	2	2	1	1	2	2	5	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:169201591C>A	ENST00000393743.3	-	14	2164	c.1873G>T	c.(1873-1875)Gat>Tat	p.D625Y		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	625							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCAAAAAATCTTCCAGGCTC	0.383													5	34					0.0215528	0.0230114	1	0	A	169201591	C	A	169201591	3	1	339	1	0	0	0	0	1	0	0	0	4410	913	32	2	3365	2	DDX60	4	169201591	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2406457	169201591	21952685	226	63234											
GLRA3	8001	broad.mit.edu	37	chr4	175565066	175565066	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcttcttggcccggtcGataaagaccttcctcatttc	8	14	6	13	2	4	1	2	0	2	1	7	2	5	1	3	2	0	0	3	2	3	5	rs142571571	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:175565066G>T	ENST00000274093.3	-	10	1768	c.1266C>A	c.(1264-1266)atC>atA	p.I422I	GLRA3_ENST00000340217.5_Silent_p.I407I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	422					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.I422I(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TGGCCCGGTCGATAAAGACCT	0.438													15	85					3.27435e-08	5.13899e-08	1	0	T	175565066	G	T	175565066	2	4	339	1	0	0	0	0	0	0	0	1	6507	1048	37	3		3	GLRA3	4	175565066	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	6363475	175565066	15589210	227	63235											
ANKRD37	353322	broad.mit.edu	37	chr4	186320766	186320766	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagctgaagatctcgcttgGtcatgtggatttccagactg	9	12	11	9	1	2	3	1	1	1	2	4	4	3	4	1	2	1	2	1	2	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:186320766G>C	ENST00000335174.4	+	4	755	c.315G>C	c.(313-315)tgG>tgC	p.W105C		NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	105						cytoplasm|nucleus				NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		ATCTCGCTTGGTCATGTGGAT	0.368													8	32					0	0	0	0	C	186320766	G	C	186320766	3	2	339	1	0	0	0	0	1	0	0	0	666	1270	44	4	329	4	ANKRD37	4	186320766	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	10755700	186320766	4833510	228	63236											
PDLIM3	27295	broad.mit.edu	37	chr4	186427757	186427757	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctcattccgattgtcgtGgagcatccggtacacgtccg	6	10	13	12	5	1	0	1	0	0	0	5	2	4	1	3	3	2	3	3	3	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:186427757G>C	ENST00000284770.5	-	6	785	c.712C>G	c.(712-714)Cac>Gac	p.H238D	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.H190D	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	238						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CGATTGTCGTGGAGCATCCGG	0.652													4	47					0	0	0	0	C	186427757	G	C	186427757	3	2	339	1	0	0	0	0	1	0	0	0	11752	1348	47	4	394	4	PDLIM3	4	186427757	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	106991	186427757	4726519	229	63237											
ZFP42	132625	broad.mit.edu	37	chr4	188924561	188924561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatgcactaggaagttgagGaatagagctgccctgagaaa	14	7	14	6	0	0	3	0	2	0	2	0	7	0	6	1	3	3	3	1	3	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:188924561G>T	ENST00000326866.4	+	4	1008	c.600G>T	c.(598-600)agG>agT	p.R200S	ZFP42_ENST00000509524.1_Missense_Mutation_p.R200S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	200					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGAAGTTGAGGAATAGAGCTG	0.483													10	71					7.48243e-07	1.10426e-06	1	0	T	188924561	G	T	188924561	3	4	339	1	0	0	0	0	1	0	0	0	17745	1165	41	2	602	2	ZFP42	4	188924561	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2496804	188924561	2229715	230	63238											
EXOC3	11336	broad.mit.edu	37	chr5	446357	446357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggccgttgcgacagcaGtgcaaagggttgctgggatg	8	7	19	7	2	0	0	0	0	0	0	0	3	0	2	1	4	4	5	1	4	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:446357G>T	ENST00000512944.1	+	2	226	c.37G>T	c.(37-39)Gtg>Ttg	p.V13L	EXOC3_ENST00000315013.5_Missense_Mutation_p.V13L|EXOC3_ENST00000510441.1_3'UTR	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	24					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGCGACAGCAGTGCAAAGGGT	0.597													4	45					0.00909568	0.00997907	1	0	T	446357	G	T	446357	3	4	339	1	0	0	0	0	1	0	0	0	5340	1029	36	4	39	4	EXOC3	5	446357	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08		446357	180468903	231	63239											
SLC6A18	348932	broad.mit.edu	37	chr5	1244418	1244418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agattttcgacaattttgccGcttccccgaacctgctcatg	8	13	7	13	3	1	1	1	0	0	1	3	3	2	1	4	0	3	2	4	0	2	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:1244418G>A	ENST00000324642.3	+	10	1549	c.1426G>A	c.(1426-1428)Gct>Act	p.A476T	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A374T	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	476					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)			CAATTTTGCCGCTTCCCCGAA	0.577													5	42					0	0	0	0	A	1244418	G	A	1244418	3	1	339	1	0	0	0	0	1	0	0	0	14769	1087	38	1	1464	1	SLC6A18	5	1244418	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	798061	1244418	179670842	232	63240											
TAS2R1	50834	broad.mit.edu	37	chr5	9629281	9629281	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggaggaggaactttttTgcattttgtttcaatttagg	8	18	11	4	0	1	0	1	0	0	0	1	3	1	3	0	4	2	2	0	4	3	8			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:9629281T>C	ENST00000382492.2	-	1	1182	c.864A>G	c.(862-864)gcA>gcG	p.A288A	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	288					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GGAACTTTTTTGCATTTTGTT	0.393													9	57					0	0	0	0	C	9629281	T	C	9629281	2	2	339	1	0	0	0	0	0	0	0	1	15656	1799	63	5		5	TAS2R1	5	9629281	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	8384863	9629281	171285979	233	63241											
CTNND2	1501	broad.mit.edu	37	chr5	11364835	11364835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcggtaggtgccggtgtGtgctggcggcagagggtccc	3	8	20	10	4	0	1	0	0	0	1	1	1	1	1	2	6	3	3	2	6	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:11364835G>T	ENST00000304623.8	-	8	1534	c.1345C>A	c.(1345-1347)Cac>Aac	p.H449N	CTNND2_ENST00000503622.1_Missense_Mutation_p.H112N|CTNND2_ENST00000511377.1_Missense_Mutation_p.H358N|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.H449N|CTNND2_ENST00000458100.2_Missense_Mutation_p.H16N	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	449					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGCCGGTGTGTGCTGGCGGC	0.612													4	28					0.00024832	0.000309133	1	0	T	11364835	G	T	11364835	3	4	339	1	0	0	0	0	1	0	0	0	4052	1377	48	4	2392	4	CTNND2	5	11364835	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1735554	11364835	169550425	234	63242											
TRIO	7204	broad.mit.edu	37	chr5	14488184	14488184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagccccctgcagaaggggGgctccttctggagctccatc	6	7	13	15	0	1	1	0	0	1	1	4	2	3	2	4	4	3	4	4	4	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:14488184G>T	ENST00000344204.4	+	48	7471	c.7447G>T	c.(7447-7449)Ggc>Tgc	p.G2483C	TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2483					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCAGAAGGGGGGCTCCTTCTG	0.741													3	16					0.115264	0.120258	1	0	T	14488184	G	T	14488184	3	4	339	1	0	0	0	0	1	0	0	0	16647	1232	43	4	7637	4	TRIO	5	14488184	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3123349	14488184	166427076	235	63243											
MARCH11	441061	broad.mit.edu	37	chr5	16067784	16067784	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacttgtggaagactctccCcggctgctttcttcgatgtc	5	14	9	13	2	2	1	0	0	2	1	5	3	2	2	2	2	2	2	2	2	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:16067784C>A	ENST00000332432.8	-	4	1204	c.1005G>T	c.(1003-1005)cgG>cgT	p.R335R		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	335						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AAGACTCTCCCCGGCTGCTTT	0.483													8	50					0.27861	0.28294	1	0	A	16067784	C	A	16067784	2	1	339	1	0	0	0	0	0	0	0	1	9369	610	22	4		4	MARCH11	5	16067784	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1579600	16067784	164847476	236	63244											
MYO10	4651	broad.mit.edu	37	chr5	16670713	16670713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggccatggcctgttcctgGttcattccctgaaatttcct	5	16	8	12	0	1	1	1	1	0	0	4	1	4	1	5	3	0	2	5	3	1	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:16670713G>T	ENST00000513610.1	-	39	6259	c.5805C>A	c.(5803-5805)aaC>aaA	p.N1935K	MYO10_ENST00000274203.9_Missense_Mutation_p.N1292K|MYO10_ENST00000505695.1_Missense_Mutation_p.N1274K|MYO10_ENST00000515803.1_Missense_Mutation_p.N1274K|MYO10_ENST00000427430.2_Missense_Mutation_p.N1292K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1935	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCTGTTCCTGGTTCATTCCCT	0.527													8	31					5.18039e-06	7.32621e-06	1	0	T	16670713	G	T	16670713	3	4	339	1	0	0	0	0	1	0	0	0	10132	1252	44	4	383	4	MYO10	5	16670713	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	602929	16670713	164244547	237	63245											
CDH12	1010	broad.mit.edu	37	chr5	21975242	21975242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtagcaacataaggtccatCcaaaaactttggctcattat	15	11	6	9	0	1	0	1	0	0	0	3	0	3	0	2	2	3	3	2	2	6	4	rs145189313	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:21975242C>A	ENST00000382254.1	-	6	1570	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	CDH12_ENST00000522262.1_Missense_Mutation_p.D162Y|CDH12_ENST00000504376.2_Missense_Mutation_p.D162Y	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	162	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TAAGGTCCATCCAAAAACTTT	0.413										HNSCC(59;0.17)			10	120					2.74318e-10	4.52254e-10	1	0	A	21975242	C	A	21975242	3	1	339	1	0	0	0	0	1	0	0	0	3127	855	30	2	1940	2	CDH12	5	21975242	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	5304529	21975242	158940018	238	63246											
CDH9	1007	broad.mit.edu	37	chr5	26890054	26890054	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagggatgtggctacttTgttttgggttatctgcaacg	8	14	13	6	1	1	1	0	0	1	1	1	2	1	2	0	3	3	4	0	3	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:26890054T>G	ENST00000231021.4	-	9	1575	c.1403A>C	c.(1402-1404)cAa>cCa	p.Q468P		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	468	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTGGCTACTTTGTTTTGGGTT	0.383													6	76					0	0	0	0	G	26890054	T	G	26890054	3	3	339	1	0	0	0	0	1	0	0	0	3146	1812	63	5	982	5	CDH9	5	26890054	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	4914812	26890054	154025206	239	63247											
MTMR12	54545	broad.mit.edu	37	chr5	32243655	32243655	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcaagccagctgctactttCcaacagagaaaaccatttta	14	10	6	11	0	1	1	1	0	0	1	2	2	2	1	3	0	6	2	3	0	6	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:32243655C>A	ENST00000382142.3	-	11	1242	c.1072G>T	c.(1072-1074)Gaa>Taa	p.E358*	MTMR12_ENST00000264934.5_Nonsense_Mutation_p.E358*|MTMR12_ENST00000280285.5_Nonsense_Mutation_p.E358*	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	358	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTGCTACTTTCCAACAGAGAA	0.343													7	34					2.0095e-06	2.90014e-06	1	0	A	32243655	C	A	32243655	4	1	339	1	0	0	0	0	0	1	0	0	10011	864	30	2	1195	2	MTMR12	5	32243655	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	5353601	32243655	148671605	240	63248											
SLC45A2	51151	broad.mit.edu	37	chr5	33984733	33984733	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagcccaccacctcctgcGtggtcctagggtctgtgttt	4	11	12	14	2	1	0	0	0	1	0	3	1	3	0	5	2	2	1	5	2	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:33984733G>A	ENST00000382102.3	-	0	13				SLC45A2_ENST00000345083.5_De_novo_Start_OutOfFrame|SLC45A2_ENST00000296589.4_De_novo_Start_OutOfFrame|SLC45A2_ENST00000509381.1_De_novo_Start_OutOfFrame|SLC45A2_ENST00000342059.3_De_novo_Start_OutOfFrame	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2						melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CACCTCCTGCGTGGTCCTAGG	0.577													5	42					0	0	0	0	A	33984733	G	A	33984733	1	1	339	1	0	0	0	0	0	0	0	0	14729	1160	40	1		1	SLC45A2	5	33984733	Translation_Start_Site	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1741078	33984733	146930527	241	63249											
UGT3A1	133688	broad.mit.edu	37	chr5	35957499	35957499	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaccctgcatccccaaagTtggcaatgaagttgtccaag	13	8	8	12	0	0	1	0	1	0	0	2	1	2	1	4	1	2	4	4	1	5	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:35957499T>C	ENST00000274278.3	-	5	1223	c.866A>G	c.(865-867)aAc>aGc	p.N289S	UGT3A1_ENST00000503189.1_Missense_Mutation_p.N289S|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.N255S	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	289						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)			ATCCCCAAAGTTGGCAATGAA	0.473													7	28					0	0	0	0	C	35957499	T	C	35957499	3	2	339	1	0	0	0	0	1	0	0	0	17059	1725	60	5	717	5	UGT3A1	5	35957499	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	1972766	35957499	144957761	242	63250											
PLCXD3	345557	broad.mit.edu	37	chr5	41382432	41382432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttcattgtcggggtctctgGgcttggtggaaattcgaaga	7	13	15	6	2	2	1	1	0	1	1	5	3	2	2	0	5	0	2	0	5	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:41382432G>T	ENST00000377801.3	-	2	382	c.308C>A	c.(307-309)cCc>cAc	p.P103H	PLCXD3_ENST00000328457.3_Missense_Mutation_p.P103H			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	103	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGGTCTCTGGGCTTGGTGGA	0.438													10	80					7.48243e-07	1.10426e-06	1	0	T	41382432	G	T	41382432	3	4	339	1	0	0	0	0	1	0	0	0	12115	1232	43	4	665	4	PLCXD3	5	41382432	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	5424933	41382432	139532828	243	63251											
NNT	23530	broad.mit.edu	37	chr5	43656127	43656127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacctcggcacttacattGgtggcgtcacctttagtggg	6	12	11	12	2	1	0	1	0	0	0	2	0	1	0	3	4	2	1	3	4	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:43656127G>A	ENST00000264663.5	+	15	2466	c.2245G>A	c.(2245-2247)Ggt>Agt	p.G749S	NNT_ENST00000344920.4_Missense_Mutation_p.G749S|NNT_ENST00000512996.2_Missense_Mutation_p.G618S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	749					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CACTTACATTGGTGGCGTCAC	0.418													8	30					0	0	0	0	A	43656127	G	A	43656127	3	1	339	1	0	0	0	0	1	0	0	0	10580	1348	47	4	2299	4	NNT	5	43656127	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2273695	43656127	137259133	244	63252											
HCN1	348980	broad.mit.edu	37	chr5	45396631	45396631	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgaagaatccagagacTggattaaagcggtggcatgg	12	7	14	8	2	0	2	0	0	0	2	2	5	1	3	2	4	1	1	2	4	4	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:45396631T>A	ENST00000303230.4	-	4	1250	c.1193A>T	c.(1192-1194)cAg>cTg	p.Q398L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	398						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATCCAGAGACTGGATTAAAGC	0.478													6	35					0	0	0	0	A	45396631	T	A	45396631	3	1	339	1	0	0	0	0	1	0	0	0	7046	1580	55	5	1499	5	HCN1	5	45396631	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	1740504	45396631	135518629	245	63253											
MIER3	166968	broad.mit.edu	37	chr5	56219659	56219659	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tactaaacgatccatatagtCcctgaaaaacacaccccagt	16	8	4	13	1	0	1	0	1	0	0	2	2	2	1	4	0	3	0	4	0	7	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:56219659C>G	ENST00000381226.3	-	12	1084	c.1067_splice	c.e12-1	p.D357_splice	MIER3_ENST00000381213.3_Splice_Site_p.D351_splice|MIER3_ENST00000381199.3_Splice_Site_p.D352_splice|SETD9_ENST00000541720.1_Intron|MIER3_ENST00000409421.1_Splice_Site_p.D289_splice			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCCATATAGTCCCTGAAAAAC	0.418													11	70					0	0	0	0	G	56219659	C	G	56219659	5	3	339	1	0	0	0	0	0	0	1	0	9651	869	30	2	606	2	MIER3	5	56219659	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	10823028	56219659	124695601	246	63254											
GFM2	84340	broad.mit.edu	37	chr5	74034158	74034158	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacatgtttaagcccaacAgtcaaagcaatgttaccagc	14	10	6	11	0	1	0	1	0	0	0	1	0	1	0	2	0	6	3	2	0	6	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:74034158A>T	ENST00000296805.3	-	14	1762	c.1305T>A	c.(1303-1305)acT>acA	p.T435T	GFM2_ENST00000509430.1_Silent_p.T435T|GFM2_ENST00000345239.2_Silent_p.T388T|GFM2_ENST00000427854.2_Silent_p.T435T	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	435					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TAAGCCCAACAGTCAAAGCAA	0.348													11	57					0	0	0	0	T	74034158	A	T	74034158	2	4	339	1	0	0	0	0	0	0	0	1	6393	175	7	5		5	GFM2	5	74034158	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	17814499	74034158	106881102	247	63255											
GPR98	84059	broad.mit.edu	37	chr5	89938734	89938734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcccttgttaagcagtttcTacactaccgagtagagccaa	11	11	8	11	1	1	1	0	0	1	1	2	2	2	1	3	0	4	4	3	0	5	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:89938734T>C	ENST00000405460.2	+	13	2525	c.2429T>C	c.(2428-2430)cTa>cCa	p.L810P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	810					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGCAGTTTCTACACTACCGA	0.418													16	65					0	0	0	0	C	89938734	T	C	89938734	3	2	339	1	0	0	0	0	1	0	0	0	6771	1522	53	5	2479	5	GPR98	5	89938734	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	15904576	89938734	90976526	248	63256											
GPR98	84059	broad.mit.edu	37	chr5	89943405	89943405	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgacttgcatggtccagtAtgctaccaaggatgggaagg	10	10	14	7	0	0	1	0	1	0	0	1	3	1	3	2	4	3	3	2	4	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:89943405A>C	ENST00000405460.2	+	17	3209	c.3113A>C	c.(3112-3114)tAt>tCt	p.Y1038S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1038					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGGTCCAGTATGCTACCAAG	0.448													7	42					0	0	0	0	C	89943405	A	C	89943405	3	2	339	1	0	0	0	0	1	0	0	0	6771	449	16	5	3179	5	GPR98	5	89943405	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	4671	89943405	90971855	249	63257											
ARSK	153642	broad.mit.edu	37	chr5	94922395	94922395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaattaagaatattagaGcattttattatgctatgtgt	16	16	7	2	0	0	3	0	0	0	3	0	3	0	3	0	0	2	2	0	0	9	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:94922395G>T	ENST00000380009.4	+	5	1034	c.829G>T	c.(829-831)Gca>Tca	p.A277S		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	277						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		GAATATTAGAGCATTTTATTA	0.308													7	28					0.0381472	0.0403057	1	0	T	94922395	G	T	94922395	3	4	339	1	0	0	0	0	1	0	0	0	1000	971	34	4	847	4	ARSK	5	94922395	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4978990	94922395	85992865	250	63258											
PPIP5K2	23262	broad.mit.edu	37	chr5	102493941	102493941	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttctaaaatggggaggTgaattaactcctgcaggcag	11	11	13	6	0	1	1	0	1	1	0	2	2	2	2	1	5	2	3	1	5	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:102493941T>C	ENST00000321521.9	+	15	2112	c.1539T>C	c.(1537-1539)ggT>ggC	p.G513G	PPIP5K2_ENST00000414217.1_Silent_p.G513G|PPIP5K2_ENST00000358359.3_Silent_p.G513G|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	513					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATGGGGAGGTGAATTAACTC	0.378													3	21					0	0	0	0	C	102493941	T	C	102493941	2	2	339	1	0	0	0	0	0	0	0	1	12409	1683	59	5		5	PPIP5K2	5	102493941	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	7571546	102493941	78421319	251	63259											
FAM170A	340069	broad.mit.edu	37	chr5	118970399	118970399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcctggagccaatgtccagGctgtgtgtttcattctccaa	8	13	9	11	0	2	0	1	0	1	0	5	1	4	1	4	2	1	2	4	2	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:118970399G>T	ENST00000515256.1	+	3	1128	c.956G>T	c.(955-957)gGc>gTc	p.G319V				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	319						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CAATGTCCAGGCTGTGTGTTT	0.557													8	31					5.18039e-06	7.32621e-06	1	0	T	118970399	G	T	118970399	3	4	339	1	0	0	0	0	1	0	0	0	5530	1203	42	4	966	4	FAM170A	5	118970399	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	16476458	118970399	61944861	252	63260											
CHSY3	337876	broad.mit.edu	37	chr5	129520044	129520044	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggcctgcataccaataCaggctgcataattacatgct	15	9	7	10	0	0	0	0	0	0	0	0	0	0	0	2	2	6	4	2	2	7	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:129520044C>A	ENST00000305031.4	+	3	1567	c.1209C>A	c.(1207-1209)taC>taA	p.Y403*	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	403						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CATACCAATACAGGCTGCATA	0.458													10	46					2.17888e-05	2.94922e-05	1	0	A	129520044	C	A	129520044	4	1	339	1	0	0	0	0	0	1	0	0	3442	489	17	4	1219	4	CHSY3	5	129520044	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	10549645	129520044	51395216	253	63261											
CHSY3	337876	broad.mit.edu	37	chr5	129521390	129521390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagtataagatgtgcttagGatccaaggcaagtactttcg	12	11	11	7	1	0	1	0	0	0	1	2	2	1	2	1	2	2	5	1	2	6	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:129521390G>T	ENST00000305031.4	+	3	2913	c.2555G>T	c.(2554-2556)gGa>gTa	p.G852V		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	852						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ATGTGCTTAGGATCCAAGGCA	0.448													12	37					6.40141e-05	8.32002e-05	1	0	T	129521390	G	T	129521390	3	4	339	1	0	0	0	0	1	0	0	0	3442	1174	41	2	2565	2	CHSY3	5	129521390	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1346	129521390	51393870	254	63262											
IRF1	3659	broad.mit.edu	37	chr5	131822538	131822538	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacttcgactttctttcTgtggggcagacgggctgtca	5	13	13	10	2	3	1	1	0	2	1	4	3	3	2	0	4	0	2	0	4	0	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:131822538T>C	ENST00000245414.4	-	5	623		c.e5-2		IRF1_ENST00000463784.1_Splice_Site|IRF1_ENST00000405885.2_Splice_Site	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1						blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		ACTTTCTTTCTGTGGGGCAGA	0.612													15	98					0	0	0	0	C	131822538	T	C	131822538	5	2	339	1	0	0	0	0	0	0	1	0	7880	1594	55	5	638	5	IRF1	5	131822538	Splice_Site	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	2301148	131822538	49092722	255	63263											
CDC23	8697	broad.mit.edu	37	chr5	137534413	137534413	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatcaactgcaactctgtgTatatatgagccagaaaaaac	16	10	6	9	0	2	2	1	1	1	1	2	2	2	2	1	0	5	2	1	0	9	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:137534413T>A	ENST00000394886.2	-	7	743	c.713A>T	c.(712-714)tAc>tTc	p.Y238F		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	238					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAACTCTGTGTATATATGAGC	0.433													14	86					0	0	0	0	A	137534413	T	A	137534413	3	1	339	1	0	0	0	0	1	0	0	0	3090	1638	57	5	1120	5	CDC23	5	137534413	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	5711875	137534413	43380847	256	63264											
PCDHA2	56146	broad.mit.edu	37	chr5	140176235	140176235	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgagaacgacaacgcGccggcactgttggcgcctag	9	5	14	13	6	0	1	0	0	0	1	0	4	0	2	2	3	2	2	2	3	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140176235G>A	ENST00000526136.1	+	1	1686	c.1686G>A	c.(1684-1686)gcG>gcA	p.A562A	PCDHA2_ENST00000378132.1_Silent_p.A562A|PCDHA2_ENST00000520672.2_Silent_p.A562A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACGCGCCGGCACTGT	0.697													21	60					0	0	0	0	A	140176235	G	A	140176235	2	1	339	1	0	0	0	0	0	0	0	1	11595	1074	38	1		1	PCDHA2	5	140176235	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2641822	140176235	40739025	257	63265											
PCDHB2	56133	broad.mit.edu	37	chr5	140476414	140476414	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcccggaggcggcaccGgcccaggcccaggccgactt	5	4	14	18	4	0	0	0	0	0	0	1	2	1	1	5	6	1	2	5	6	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140476414G>T	ENST00000194155.4	+	1	2188	c.2040G>T	c.(2038-2040)ccG>ccT	p.P680P		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		680					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCGGCACCGGCCCAGGCCC	0.692													23	107					1.10513e-12	1.85201e-12	1	0	T	140476414	G	T	140476414	2	4	339	1	0	0	0	0	0	0	0	1	11613	1103	39	3		3	PCDHB2	5	140476414	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	300179	140476414	40438846	258	63266											
PCDHB5	26167	broad.mit.edu	37	chr5	140515407	140515407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagatataaatgaccatgccCcagagttcccagagaaggaa	16	6	9	10	0	0	4	0	1	0	3	1	6	1	5	4	1	1	1	4	1	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140515407C>G	ENST00000231134.5	+	1	608	c.391C>G	c.(391-393)Cca>Gca	p.P131A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		131	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACCATGCCCCAGAGTTCCC	0.453													10	51					0	0	0	0	G	140515407	C	G	140515407	3	3	339	1	0	0	0	0	1	0	0	0	11616	623	22	4	393	4	PCDHB5	5	140515407	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	38993	140515407	40399853	259	63267											
PCDHB7	56129	broad.mit.edu	37	chr5	140553068	140553068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaccgctttagacggcGgctctcctccaagatcaggg	7	8	10	16	3	3	2	2	0	1	2	5	2	4	2	4	3	0	2	4	3	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140553068G>T	ENST00000231137.3	+	1	826	c.652G>T	c.(652-654)Ggc>Tgc	p.G218C		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		218	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G218S(1)|p.G218C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTAGACGGCGGCTCTCCTCC	0.537													8	47					0.000157383	0.000199178	1	0	T	140553068	G	T	140553068	3	4	339	1	0	0	0	0	1	0	0	0	11618	1116	39	3	654	3	PCDHB7	5	140553068	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	37661	140553068	40362192	260	63268											
PCDHB8	56128	broad.mit.edu	37	chr5	140559491	140559491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcgcacaatggcgaggtgCgcaccgccaggctgctgagc	7	4	17	13	4	0	1	0	1	0	0	0	2	0	1	2	4	3	4	2	4	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140559491C>G	ENST00000239444.2	+	1	2121	c.1876C>G	c.(1876-1878)Cgc>Ggc	p.R626G		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		626	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGAGGTGCGCACCGCCAG	0.701													12	45					0	0	0	0	G	140559491	C	G	140559491	3	3	339	1	0	0	0	0	1	0	0	0	11619	768	27	3	1878	3	PCDHB8	5	140559491	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	6423	140559491	40355769	261	63269											
PCDHB12	56124	broad.mit.edu	37	chr5	140588845	140588845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttacaaattgagctccaGgtcagggatataaatgatca	14	13	8	6	0	2	2	2	2	0	0	3	3	3	3	1	2	2	1	1	2	5	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140588845G>T	ENST00000239450.2	+	1	555	c.366G>T	c.(364-366)caG>caT	p.Q122H	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		122	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGAGCTCCAGGTCAGGGATA	0.443													7	72					2.7689e-08	4.35316e-08	1	0	T	140588845	G	T	140588845	3	4	339	1	0	0	0	0	1	0	0	0	11608	991	35	4	368	4	PCDHB12	5	140588845	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	29354	140588845	40326415	262	63270											
PCDHB12	56124	broad.mit.edu	37	chr5	140590744	140590744	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccactatgaggtgtgtgtGactggaggctccaggtcaaa	10	10	13	8	0	1	2	1	2	0	0	2	3	2	3	2	4	1	1	2	4	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140590744G>C	ENST00000239450.2	+	1	2454	c.2265G>C	c.(2263-2265)gtG>gtC	p.V755V	PCDHB12_ENST00000541609.1_Silent_p.V418V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		755					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGTGTGTGACTGGAGGCT	0.542													14	80					0	0	0	0	C	140590744	G	C	140590744	2	2	339	1	0	0	0	0	0	0	0	1	11608	1277	45	2		2	PCDHB12	5	140590744	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1899	140590744	40324516	263	63271											
PCDHB13	56123	broad.mit.edu	37	chr5	140595731	140595731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcccggaggcggccccgaCccaggcccaggccgacttgc	5	4	13	19	4	1	0	0	0	1	0	2	3	1	1	6	5	1	0	6	5	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140595731C>A	ENST00000341948.4	+	1	2223	c.2036C>A	c.(2035-2037)aCc>aAc	p.T679N		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		679					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCCCCGACCCAGGCCCAG	0.692													14	104					1.15088e-07	1.76391e-07	1	0	A	140595731	C	A	140595731	3	1	339	1	0	0	0	0	1	0	0	0	11609	507	18	4	2038	4	PCDHB13	5	140595731	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	4987	140595731	40319529	264	63272											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773203	140773203	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccggatgagggaatcaacGgaaaagtggcatacaaattc	16	6	11	8	2	1	1	1	1	0	0	2	4	1	4	1	4	2	1	1	4	6	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140773203G>C	ENST00000398604.2	+	1	823	c.823G>C	c.(823-825)Gga>Cga	p.G275R	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAATCAACGGAAAAGTGGC	0.438													7	66					0	0	0	0	C	140773203	G	C	140773203	3	2	339	1	0	0	0	0	1	0	0	0	11631	1117	39	3	825	3	PCDHGA8	5	140773203	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	177472	140773203	40142057	265	63273											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788984	140788984	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataactactacaaactggtGacagatggagccctggaccg	14	7	10	10	1	0	2	0	1	0	1	0	4	0	4	2	3	5	0	2	3	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140788984G>T	ENST00000520790.1	+	1	1215	c.1215G>T	c.(1213-1215)gtG>gtT	p.V405V	PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAACTGGTGACAGATGGAG	0.458													12	44					2.80697e-09	4.5218e-09	1	0	T	140788984	G	T	140788984	2	4	339	1	0	0	0	0	0	0	0	1	11638	1277	45	2		2	PCDHGB6	5	140788984	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	15781	140788984	40126276	266	63274											
RELL2	285613	broad.mit.edu	37	chr5	141017811	141017811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgtcggaaccacagcctGacctggaaccgccccaacat	11	6	8	16	2	1	1	1	1	0	0	2	3	1	3	6	2	4	0	6	2	3	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:141017811G>A	ENST00000297164.3	+	1	1219	c.19G>A	c.(19-21)Gac>Aac	p.D7N	RELL2_ENST00000518856.1_Intron|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000444782.1_Missense_Mutation_p.D7N|RELL2_ENST00000521367.1_Intron	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	7						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACAGCCTGACCTGGAACC	0.622													9	66					0	0	0	0	A	141017811	G	A	141017811	3	1	339	1	0	0	0	0	1	0	0	0	13301	1290	45	2	21	2	RELL2	5	141017811	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	228827	141017811	39897449	267	63275											
ANXA6	309	broad.mit.edu	37	chr5	150502540	150502540	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacattgctgcggtgcgTgatgatatcgatgattgtgt	7	14	14	6	3	0	3	0	3	0	0	1	5	0	4	0	2	3	1	0	2	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:150502540T>C	ENST00000354546.5	-	16	1398	c.1171A>G	c.(1171-1173)Acg>Gcg	p.T391A	ANXA6_ENST00000521512.1_Missense_Mutation_p.T184A|ANXA6_ENST00000523714.1_Missense_Mutation_p.T359A|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.T391A	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	391						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCGGTGCGTGATGATATCG	0.572													8	30					0	0	0	0	C	150502540	T	C	150502540	3	2	339	1	0	0	0	0	1	0	0	0	721	1696	59	5	894	5	ANXA6	5	150502540	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	9484729	150502540	30412720	268	63276											
GRIA1	2890	broad.mit.edu	37	chr5	153077648	153077648	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttgtccctgcagccacCgatgcccaagctgggggcga	8	7	13	13	2	0	0	0	0	0	0	1	2	1	0	4	2	4	3	4	2	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:153077648C>A	ENST00000285900.5	+	9	1522	c.1179C>A	c.(1177-1179)acC>acA	p.T393T	GRIA1_ENST00000521843.2_Silent_p.T324T|GRIA1_ENST00000518783.1_Silent_p.T403T|GRIA1_ENST00000518142.1_Silent_p.T313T|GRIA1_ENST00000340592.5_Silent_p.T393T|GRIA1_ENST00000448073.4_Silent_p.T403T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	393					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGCAGCCACCGATGCCCAAG	0.488													4	39					2.56e-06	3.67147e-06	1	0	A	153077648	C	A	153077648	2	1	339	1	0	0	0	0	0	0	0	1	6817	639	23	3		3	GRIA1	5	153077648	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2575108	153077648	27837612	269	63277											
HAVCR1	26762	broad.mit.edu	37	chr5	156482381	156482381	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcgtgtgtccttccgataGgtgacgtgggttccattggt	5	14	14	8	3	0	1	0	1	0	0	3	2	3	1	3	3	1	1	3	3	2	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:156482381G>C	ENST00000339252.3	-	2	742	c.210C>G	c.(208-210)acC>acG	p.T70T	HAVCR1_ENST00000522693.1_Silent_p.T70T|HAVCR1_ENST00000425854.1_Silent_p.T70T|HAVCR1_ENST00000523175.1_Silent_p.T70T|HAVCR1_ENST00000544197.1_Silent_p.T70T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	70	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTTCCGATAGGTGACGTGGG	0.463													6	41					0	0	0	0	C	156482381	G	C	156482381	2	2	339	1	0	0	0	0	0	0	0	1	7023	987	35	4		4	HAVCR1	5	156482381	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3404733	156482381	24432879	270	63278											
ADAM19	8728	broad.mit.edu	37	chr5	156915444	156915444	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacgcagataatctggaggGggccggggaggaggctggga	9	4	20	8	2	1	1	0	0	1	1	1	5	1	5	2	8	0	2	2	8	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:156915444G>T	ENST00000257527.4	-	21	2457	c.2379C>A	c.(2377-2379)ccC>ccA	p.P793P	ADAM19_ENST00000517905.1_Silent_p.P793P|ADAM19_ENST00000394020.1_Silent_p.P795P|ADAM19_ENST00000430702.2_Silent_p.P526P	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	793					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.P793P(1)|p.P794P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATCTGGAGGGGGCCGGGGAG	0.602													5	37					0.000602214	0.000724082	1	0	T	156915444	G	T	156915444	2	4	339	1	0	0	0	0	0	0	0	1	240	1219	43	4		4	ADAM19	5	156915444	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	433063	156915444	23999816	271	63279											
SOX30	11063	broad.mit.edu	37	chr5	157053715	157053715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagccaaagggaggccgaCtgtaagggcatgtactgcag	12	6	14	9	1	0	0	0	0	0	0	0	2	0	1	2	3	3	4	2	3	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:157053715C>A	ENST00000265007.6	-	5	2236	c.1895G>T	c.(1894-1896)aGt>aTt	p.S632I	SOX30_ENST00000519442.1_Missense_Mutation_p.S327I|SOX30_ENST00000311371.5_Missense_Mutation_p.V468F	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	632	Pro-rich.				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGAGGCCGACTGTAAGGGCA	0.423													3	30					0.115264	0.120258	1	0	A	157053715	C	A	157053715	3	1	339	1	0	0	0	0	1	0	0	0	15040	565	20	4	370	4	SOX30	5	157053715	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	138271	157053715	23861545	272	63280											
ADRA1B	147	broad.mit.edu	37	chr5	159344561	159344561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctccttctacatccctctgGcggtcattctagtcatgtac	6	14	7	14	1	5	0	2	0	3	0	7	0	7	0	2	2	2	2	2	2	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:159344561G>A	ENST00000306675.3	+	1	772	c.649G>A	c.(649-651)Gcg>Acg	p.A217T		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	217					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CATCCCTCTGGCGGTCATTCT	0.542													8	86					0	0	0	0	A	159344561	G	A	159344561	3	1	339	1	0	0	0	0	1	0	0	0	335	1203	42	4	651	4	ADRA1B	5	159344561	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2290846	159344561	21570699	273	63281											
ATP10B	23120	broad.mit.edu	37	chr5	160097625	160097625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttcatttggatgaagtCtcccacgcgcacatccttcc	8	12	7	14	2	2	1	1	1	1	0	5	2	4	2	3	1	0	2	3	1	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:160097625C>A	ENST00000327245.5	-	7	1366	c.520G>T	c.(520-522)Gac>Tac	p.D174Y		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	174					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGATGAAGTCTCCCACGCGC	0.478													7	70					0.00198382	0.00229771	1	0	A	160097625	C	A	160097625	3	1	339	1	0	0	0	0	1	0	0	0	1121	913	32	2	3945	2	ATP10B	5	160097625	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	753064	160097625	20817635	274	63282											
CPEB4	80315	broad.mit.edu	37	chr5	173317390	173317390	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatgtcagccctggcttTggaggcagcttctctcctca	6	12	9	14	0	4	0	3	0	1	0	6	1	5	1	2	3	2	3	2	3	0	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:173317390T>C	ENST00000265085.5	+	1	2108	c.654T>C	c.(652-654)ttT>ttC	p.F218F	CPEB4_ENST00000520867.1_Silent_p.F218F|CPEB4_ENST00000519835.1_Silent_p.F218F|CPEB4_ENST00000334035.5_Silent_p.F218F	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	218							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCCCTGGCTTTGGAGGCAGCT	0.532													5	66					0	0	0	0	C	173317390	T	C	173317390	2	2	339	1	0	0	0	0	0	0	0	1	3833	1809	63	5		5	CPEB4	5	173317390	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	13219765	173317390	7597870	275	63283											
CLTB	1212	broad.mit.edu	37	chr5	175843329	175843329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcctccggggcaccgctCtccgacgacgagaagaagcc	8	3	13	17	6	1	2	0	0	1	2	3	5	2	2	6	2	1	2	6	2	2	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:175843329C>A	ENST00000310418.4	-	1	241	c.36G>T	c.(34-36)gaG>gaT	p.E12D	CLTB_ENST00000345807.2_Missense_Mutation_p.E12D	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	12					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		GGGCACCGCTCTCCGACGACG	0.716													7	11					0.0381472	0.0403057	1	0	A	175843329	C	A	175843329	3	1	339	1	0	0	0	0	1	0	0	0	3595	912	32	2	677	2	CLTB	5	175843329	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2525939	175843329	5071931	276	63284											
NSD1	64324	broad.mit.edu	37	chr5	176637201	176637201	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgagggtgctttgatctcaAagtgttctcgagagaagaat	11	12	12	6	1	2	4	1	2	2	2	4	6	2	4	0	1	1	2	0	1	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:176637201A>T	ENST00000439151.2	+	5	1846	c.1801A>T	c.(1801-1803)Aag>Tag	p.K601*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.K332*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.K332*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.K498*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	601					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTGATCTCAAAGTGTTCTCG	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			9	43					0	0	0	0	T	176637201	A	T	176637201	4	4	339	1	0	0	0	0	0	1	0	0	10740	15	1	5	1815	5	NSD1	5	176637201	Nonsense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	793872	176637201	4278059	277	63285											
HNRNPH1	3187	broad.mit.edu	37	chr5	179048345	179048345	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcgccacttggtctgcCttctctggtgtagatgaaac	7	12	10	12	1	2	2	0	1	2	1	4	2	2	2	3	2	3	1	3	2	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:179048345C>A	ENST00000356731.5	-	2	1686	c.151G>T	c.(151-153)Ggc>Tgc	p.G51C	HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G51C|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G51C|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G51C|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.G51C			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	51	RRM 1.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CTTGGTCTGCCTTCTCTGGTG	0.393													9	59					1.12685e-05	1.55281e-05	1	0	A	179048345	C	A	179048345	3	1	339	1	0	0	0	0	1	0	0	0	7316	681	24	4	1242	4	HNRNPH1	5	179048345	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2411144	179048345	1866915	278	63286											
MAML1	9794	broad.mit.edu	37	chr5	179193027	179193027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgtgagtacagattcccCcagcctagggggctcccaaa	9	7	10	15	0	0	2	0	1	0	1	2	2	2	2	5	2	2	2	5	2	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:179193027C>A	ENST00000292599.3	+	2	1279	c.1016C>A	c.(1015-1017)cCc>cAc	p.P339H	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	339					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGATTCCCCCAGCCTAGGG	0.612													4	16					0.00024832	0.000309133	1	0	A	179193027	C	A	179193027	3	1	339	1	0	0	0	0	1	0	0	0	9274	623	22	4	1022	4	MAML1	5	179193027	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	144682	179193027	1722233	279	63287											
BTNL9	153579	broad.mit.edu	37	chr5	180477327	180477327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccgtctccatccagaatCtcctcttgagccagaagaaa	11	10	7	13	1	3	4	0	1	3	3	7	4	5	4	5	0	1	0	5	0	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:180477327C>T	ENST00000327705.9	+	4	925	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F	BTNL9_ENST00000376841.2_Missense_Mutation_p.L232F|BTNL9_ENST00000376842.3_Missense_Mutation_p.L232F|BTNL9_ENST00000515271.1_Missense_Mutation_p.L163F	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	232						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATCCAGAATCTCCTCTTGAG	0.527													7	48					0	0	0	0	T	180477327	C	T	180477327	3	4	339	1	0	0	0	0	1	0	0	0	1577	913	32	2	704	2	BTNL9	5	180477327	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1284300	180477327	437933	280	63288											
DCDC2	51473	broad.mit.edu	37	chr6	24357841	24357841	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggtcacctccttcaggaaGacttcgaagctggacacctt	9	9	9	14	2	2	1	2	0	0	1	4	4	3	3	4	3	1	1	4	3	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:24357841G>C	ENST00000378454.3	-	1	439	c.138C>G	c.(136-138)gtC>gtG	p.V46V	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	46	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCTTCAGGAAGACTTCGAAGC	0.627													11	49					0	0	0	0	C	24357841	G	C	24357841	2	2	339	1	0	0	0	0	0	0	0	1	4317	929	33	2		2	DCDC2	6	24357841	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08		24357841	146757226	281	63289											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726735	25726735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgcgtgcttttcctccCtgcttccctcgtccagacat	3	14	8	16	3	0	1	0	0	0	1	5	1	4	1	4	1	2	2	4	1	0	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:25726735C>A	ENST00000297012.3	-	1	55	c.21G>T	c.(19-21)caG>caT	p.Q7H		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	7					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CTTTTCCTCCCTGCTTCCCTC	0.517													9	37					1.12685e-05	1.55281e-05	1	0	A	25726735	C	A	25726735	3	1	339	1	0	0	0	0	1	0	0	0	7178	680	24	4	378	4	HIST1H2AA	6	25726735	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1368894	25726735	145388332	282	63290											
SLC17A3	10786	broad.mit.edu	37	chr6	25862543	25862543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaggaatcattgagctggGattgagggcttgtgctgttg	8	12	16	5	0	1	3	1	2	0	1	1	5	1	5	0	3	2	4	0	3	1	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:25862543G>T	ENST00000397060.4	-	3	330	c.221C>A	c.(220-222)tCc>tAc	p.S74Y	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S74Y|SLC17A3_ENST00000360657.3_Missense_Mutation_p.S74Y	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	74					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATTGAGCTGGGATTGAGGGCT	0.448													6	49					0.217242	0.220863	1	0	T	25862543	G	T	25862543	3	4	339	1	0	0	0	0	1	0	0	0	14506	1174	41	2	1315	2	SLC17A3	6	25862543	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	135808	25862543	145252524	283	63291											
HIST1H3B	8358	broad.mit.edu	37	chr6	26031973	26031973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgcaaaggtttgtgtcctCaaagagccctaccaagtagg	11	8	12	10	1	1	1	1	0	0	1	2	1	2	1	3	3	2	3	3	3	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:26031973C>T	ENST00000244661.2	-	1	315	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TTTGTGTCCTCAAAGAGCCCT	0.542													6	38					0	0	0	0	T	26031973	C	T	26031973	3	4	339	1	0	0	0	0	1	0	0	0	7206	835	29	2	98	2	HIST1H3B	6	26031973	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	169430	26031973	145083094	284	63292											
HIST1H2AB	8335	broad.mit.edu	37	chr6	26033783	26033783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagctttaccgccttgtttgCcgcgaccagacataactact	9	11	8	13	3	0	1	0	0	0	1	0	3	0	1	4	0	5	2	4	0	3	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:26033783C>A	ENST00000259791.2	-	1	13	c.14G>T	c.(13-15)gGc>gTc	p.G5V		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	5					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCCTTGTTTGCCGCGACCAGA	0.498													4	44					0.00024832	0.000309133	1	0	A	26033783	C	A	26033783	3	1	339	1	0	0	0	0	1	0	0	0	7179	739	26	4	382	4	HIST1H2AB	6	26033783	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1810	26033783	145081284	285	63293											
HIST1H3D	8351	broad.mit.edu	37	chr6	26197426	26197426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttggtggccagctgcttgCgtggcgctttcccacccgtg	2	11	13	15	3	0	0	0	0	0	0	1	0	1	0	4	3	3	3	4	3	0	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:26197426C>T	ENST00000377831.5	-	2	506	c.53G>A	c.(52-54)cGc>cAc	p.R18H	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.R18H	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	18					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CAGCTGCTTGCGTGGCGCTTT	0.612													6	58					0	0	0	0	T	26197426	C	T	26197426	3	4	339	1	0	0	0	0	1	0	0	0	7208	768	27	1	361	1	HIST1H3D	6	26197426	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	163643	26197426	144917641	286	63294											
HIST1H2BI	8346	broad.mit.edu	37	chr6	26273543	26273543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggccaaacacgcggtgtcgGagggcaccaaggcggtcacc	9	4	15	13	4	1	0	1	0	0	0	2	1	1	1	3	6	1	1	3	6	2	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:26273543G>A	ENST00000377733.2	+	1	400	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	114					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CGCGGTGTCGGAGGGCACCAA	0.572													6	53					0	0	0	0	A	26273543	G	A	26273543	3	1	339	1	0	0	0	0	1	0	0	0	7198	1175	41	2	342	2	HIST1H2BI	6	26273543	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	76117	26273543	144841524	287	63295											
BTN3A2	11118	broad.mit.edu	37	chr6	26373200	26373200	+	Frame_Shift_Del	DEL	C	C	-																															tatcttgctgctgcttctcgCcggagccagttacttcttgt																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:26373200delC	ENST00000356386.2	+	6	979	c.791delC	c.(790-792)gcfs	p.A264fs	BTN3A2_ENST00000396948.1_Frame_Shift_Del_p.A264fs|BTN3A2_ENST00000396934.3_Frame_Shift_Del_p.A241fs|BTN3A2_ENST00000377708.2_Frame_Shift_Del_p.A264fs|BTN3A2_ENST00000527422.1_Frame_Shift_Del_p.A264fs|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000508906.2_Frame_Shift_Del_p.A222fs	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	264						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CTGCTTCTCGCCGGAGCCAGT	0.542													7	46	---	---	---	---					-	26373200	C	-	26373200	7	5	339	1	0	1	0	1	0	0	0	0	1572	739	26	0	805	0	BTN3A2	6	26373200	Frame_Shift_Del	DEL	C	TCGA-CV-A45Z-01A-21D-A25D-08	99657	26373200	144741867	288	63296											
ZFP57	346171	broad.mit.edu	37	chr6	29640904	29640904	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaaatatgggttcctgggaCctggccactggtgcatggtt	7	12	13	9	0	0	0	0	0	0	0	1	1	1	1	3	5	1	3	3	5	3	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:29640904C>A	ENST00000376883.1	-	6	1335	c.924G>T	c.(922-924)agG>agT	p.R308S	ZFP57_ENST00000376881.3_Missense_Mutation_p.R308S|ZFP57_ENST00000488757.1_Missense_Mutation_p.R328S			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	244					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GTTCCTGGGACCTGGCCACTG	0.557													16	101					1.52009e-12	2.54275e-12	1	0	A	29640904	C	A	29640904	3	1	339	1	0	0	0	0	1	0	0	0	17746	506	18	4	630	4	ZFP57	6	29640904	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3267704	29640904	141474163	289	63297											
TRIM10	10107	broad.mit.edu	37	chr6	30121897	30121897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatagtcaagagacaccCtcacctgccggggctgctcc	8	7	9	17	1	3	1	3	0	0	1	4	2	4	1	5	2	2	2	5	2	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:30121897C>T	ENST00000449742.2	-	7	1370	c.1295G>A	c.(1294-1296)aGg>aAg	p.R432K	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	432	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						AAGAGACACCCTCACCTGCCG	0.622													3	26					0	0	0	0	T	30121897	C	T	30121897	3	4	339	1	0	0	0	0	1	0	0	0	16581	681	24	4	242	4	TRIM10	6	30121897	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	480993	30121897	140993170	290	63298											
COL11A2	1302	broad.mit.edu	37	chr6	33138938	33138938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgggtccagggggtccagGagggccctgggtaagagaag	10	5	19	7	0	0	1	0	0	0	1	2	3	2	2	3	6	0	1	3	6	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:33138938G>T	ENST00000341947.2	-	45	3546	c.3319C>A	c.(3319-3321)Cct>Act	p.P1107T	COL11A2_ENST00000374712.1_Missense_Mutation_p.P1026T|COL11A2_ENST00000374708.4_Missense_Mutation_p.P1021T|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1047T|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.P1000T|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1086T|COL11A2_ENST00000374714.1_Missense_Mutation_p.P1081T|COL11A2_ENST00000374713.1_Missense_Mutation_p.P1060T	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1107	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						GGGGGTCCAGGAGGGCCCTGG	0.617													5	10					0.014758	0.0159053	1	0	T	33138938	G	T	33138938	3	4	339	1	0	0	0	0	1	0	0	0	3698	1174	41	2	1979	2	COL11A2	6	33138938	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3017041	33138938	137976129	291	63299											
FGD2	221472	broad.mit.edu	37	chr6	36981415	36981415	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccgcatcggtgacgtgatCcagaagctggcccccttcct	6	8	10	17	3	0	3	0	2	0	1	3	3	2	3	6	2	1	2	6	2	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:36981415C>A	ENST00000274963.8	+	5	729	c.558C>A	c.(556-558)atC>atA	p.I186I		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	186	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GTGACGTGATCCAGAAGCTGG	0.587													4	27					1	1	1	0	A	36981415	C	A	36981415	2	1	339	1	0	0	0	0	0	0	0	1	5878	845	30	2		2	FGD2	6	36981415	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3842477	36981415	134133652	292	63300											
DNAH8	1769	broad.mit.edu	37	chr6	38980088	38980088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagtcatttcaatactccGcagtagcctgagtgatctaa	13	11	8	9	1	3	3	2	2	1	1	4	3	4	3	2	0	2	2	2	0	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:38980088G>A	ENST00000359357.3	+	88	13072	c.12818G>A	c.(12817-12819)cGc>cAc	p.R4273H	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4237H					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAATACTCCGCAGTAGCCTG	0.363													5	55					0	0	0	0	A	38980088	G	A	38980088	3	1	339	1	0	0	0	0	1	0	0	0	4643	1087	38	1	13160	1	DNAH8	6	38980088	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1998673	38980088	132134979	293	63301											
DAAM2	23500	broad.mit.edu	37	chr6	39835559	39835559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtgcctggtggccacaaGaaggtgctgcaggccatgct	7	8	14	12	1	0	1	0	0	0	1	1	1	0	1	3	4	4	3	3	4	2	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:39835559G>T	ENST00000538976.1	+	6	884	c.702G>T	c.(700-702)aaG>aaT	p.K234N	DAAM2_ENST00000398904.2_Missense_Mutation_p.K234N|DAAM2_ENST00000274867.4_Missense_Mutation_p.K234N	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	234	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GTGGCCACAAGAAGGTGCTGC	0.617													4	19					0.00909568	0.00997907	1	0	T	39835559	G	T	39835559	3	4	339	1	0	0	0	0	1	0	0	0	4249	933	33	2	720	2	DAAM2	6	39835559	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	855471	39835559	131279508	294	63302											
DAAM2	23500	broad.mit.edu	37	chr6	39869653	39869653	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctggctgcaggcagctCgctggaggagggaggagagt	7	6	20	8	1	0	1	0	0	0	1	2	5	1	4	1	7	2	5	1	7	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:39869653C>A	ENST00000538976.1	+	25	3226	c.3044C>A	c.(3043-3045)tCg>tAg	p.S1015*	DAAM2_ENST00000398904.2_Nonsense_Mutation_p.S1016*|DAAM2_ENST00000274867.4_Nonsense_Mutation_p.S1016*	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1016					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCAGGCAGCTCGCTGGAGGAG	0.647													4	20					0.00024832	0.000309133	1	0	A	39869653	C	A	39869653	4	1	339	1	0	0	0	0	0	1	0	0	4249	893	31	3	3138	3	DAAM2	6	39869653	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	34094	39869653	131245414	295	63303											
TDRD6	221400	broad.mit.edu	37	chr6	46657289	46657290	+	Frame_Shift_Ins	INS	-	-	C																															gtagatgaagagatttcactINScccagccttaagatctatca																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:46657289_46657290insC	ENST00000544460.1	+	1	1678_1679	c.1424_1425insC	c.(1423-1425)cccfs	p.P475fs	TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.P475fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	475					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAGATTTCACTCCCAGCCTTAA	0.45													13	62	---	---	---	---					C	46657290	-	C	46657289	7	5	339	1	0	1	1	0	0	0	0	0	15828	1551	54	0	1426	0	TDRD6	6	46657289	Frame_Shift_Ins	INS	-	TCGA-CV-A45Z-01A-21D-A25D-08	6787636	46657289	124457778	296	63304											
DEFB110	245913	broad.mit.edu	37	chr6	49986794	49986794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accattacctattctgcactCtctcctcaagtccaagctac	10	12	3	16	0	3	0	1	0	2	0	6	0	5	0	4	0	4	2	4	0	5	4	rs145542651		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:49986794C>G	ENST00000371148.2	-	2	145	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	34					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATTCTGCACTCTCTCCTCAAG	0.388													4	57					0	0	0	0	G	49986794	C	G	49986794	3	3	339	1	0	0	0	0	1	0	0	0	4436	922	32	2	243	2	DEFB110	6	49986794	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3329505	49986794	121128273	297	63305											
PKHD1	5314	broad.mit.edu	37	chr6	51900390	51900390	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaggaatccacttaccCtgggtggaactttgcactga	12	10	10	9	0	0	2	0	2	0	0	1	4	1	4	2	3	3	1	2	3	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:51900390C>A	ENST00000371117.3	-	28	3502	c.3228_splice	c.e28+1	p.R1076_splice	PKHD1_ENST00000340994.4_Splice_Site_p.R1076_splice	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1076	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCCACTTACCCTGGGTGGAAC	0.393													4	63					0.150653	0.155585	1	0	A	51900390	C	A	51900390	5	1	339	1	0	0	0	0	0	0	1	0	12043	695	24	4	9196	4	PKHD1	6	51900390	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1913596	51900390	119214677	298	63306											
PKHD1	5314	broad.mit.edu	37	chr6	51949723	51949723	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcagagagatcagccaGgcagtcattctgtccactta	11	10	8	12	0	5	2	4	0	1	2	6	3	6	2	2	1	1	1	2	1	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:51949723G>T	ENST00000371117.3	-	2	284	c.9C>A	c.(7-9)gcC>gcA	p.A3A	PKHD1_ENST00000340994.4_Silent_p.A3A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGATCAGCCAGGCAGTCATTC	0.363													7	52					1.6384e-10	2.70602e-10	1	0	T	51949723	G	T	51949723	2	4	339	1	0	0	0	0	0	0	0	1	12043	987	35	4		4	PKHD1	6	51949723	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	49333	51949723	119165344	299	63307											
GCM1	8521	broad.mit.edu	37	chr6	52995701	52995701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcttctaacttggtttctGgttttggatgatcatgctct	6	18	9	8	0	4	1	1	1	3	0	4	2	4	2	0	3	3	4	0	3	1	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:52995701G>A	ENST00000259803.7	-	5	681	c.470C>T	c.(469-471)cCa>cTa	p.P157L		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	157						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTTGGTTTCTGGTTTTGGATG	0.438													7	51					0	0	0	0	A	52995701	G	A	52995701	3	1	339	1	0	0	0	0	1	0	0	0	6346	1348	47	4	848	4	GCM1	6	52995701	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1045978	52995701	118119366	300	63308											
GFRAL	389400	broad.mit.edu	37	chr6	55216298	55216298	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccaaagaagctcttcaCagcaagacatgtgcagtgaa	15	7	9	10	0	2	3	1	1	1	2	3	3	3	3	1	0	3	3	1	0	4	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:55216298C>A	ENST00000340465.2	+	5	704	c.618C>A	c.(616-618)caC>caA	p.H206Q		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	206						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGCTCTTCACAGCAAGACAT	0.423													13	72					0.00010058	0.000128355	1	0	A	55216298	C	A	55216298	3	1	339	1	0	0	0	0	1	0	0	0	6402	477	17	4	636	4	GFRAL	6	55216298	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2220597	55216298	115898769	301	63309											
COL21A1	81578	broad.mit.edu	37	chr6	56006615	56006615	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgccctggttctcctttgtAacctggtagtcctcgagctc	4	14	9	14	2	1	0	0	0	1	0	6	1	2	0	4	2	2	4	4	2	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:56006615A>C	ENST00000244728.5	-	12	1907	c.1510T>G	c.(1510-1512)Tac>Gac	p.Y504D	COL21A1_ENST00000370819.1_Missense_Mutation_p.Y501D|COL21A1_ENST00000535941.1_Missense_Mutation_p.Y504D	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	504	Collagen-like 1.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTCCTTTGTAACCTGGTAGT	0.343													5	33					0	0	0	0	C	56006615	A	C	56006615	3	2	339	1	0	0	0	0	1	0	0	0	3710	362	13	5	1439	5	COL21A1	6	56006615	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	790317	56006615	115108452	302	63310											
EYS	346007	broad.mit.edu	37	chr6	66045008	66045008	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatattcctgactgtcttctTcactcaaacaactgcatcca	11	13	4	13	0	4	1	2	1	2	0	6	2	6	1	2	0	3	1	2	0	3	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:66045008T>G	ENST00000503581.1	-	11	2168	c.1631A>C	c.(1630-1632)gAa>gCa	p.E544A	EYS_ENST00000370616.2_Missense_Mutation_p.E544A|EYS_ENST00000393380.2_Missense_Mutation_p.E544A|EYS_ENST00000342421.5_Missense_Mutation_p.E544A|EYS_ENST00000370618.3_Missense_Mutation_p.E544A|EYS_ENST00000370621.3_Missense_Mutation_p.E544A	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	544					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACTGTCTTCTTCACTCAAACA	0.353													4	56					0	0	0	0	G	66045008	T	G	66045008	3	3	339	1	0	0	0	0	1	0	0	0	5370	1783	62	5	7897	5	EYS	6	66045008	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	10038393	66045008	105070059	303	63311											
BAI3	577	broad.mit.edu	37	chr6	70049224	70049224	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttactttcttggtctcaacaGggcgtctctttggagctcct	5	16	9	11	1	3	0	1	0	3	0	6	1	4	1	1	3	3	1	1	3	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:70049224G>T	ENST00000370598.1	+	26	4108		c.e26-1		BAI3_ENST00000546190.1_Splice_Site|BAI3_ENST00000238918.8_Splice_Site	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3						negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGTCTCAACAGGGCGTCTCTT	0.478													9	92					2.17888e-05	2.94922e-05	1	0	T	70049224	G	T	70049224	5	4	339	1	0	0	0	0	0	0	1	0	1304	1014	35	4	3381	4	BAI3	6	70049224	Splice_Site	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4004216	70049224	101065843	304	63312											
IMPG1	3617	broad.mit.edu	37	chr6	76751720	76751720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttttgttcgatgctttGccaaatcgaatattcgtctc	8	18	6	9	3	2	0	0	0	2	0	6	2	2	0	1	0	2	2	1	0	3	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:76751720G>A	ENST00000369950.3	-	2	380	c.191C>T	c.(190-192)gCa>gTa	p.A64V	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	64					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCGATGCTTTGCCAAATCGAA	0.363													7	60					0	0	0	0	A	76751720	G	A	76751720	3	1	339	1	0	0	0	0	1	0	0	0	7781	1319	46	4	2266	4	IMPG1	6	76751720	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	6702496	76751720	94363347	305	63313											
SNX14	57231	broad.mit.edu	37	chr6	86282058	86282058	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccacaaacagcacagctaTgaccttgaggaaataattcc	16	8	6	11	0	0	2	0	2	0	0	1	3	1	3	3	1	4	2	3	1	5	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:86282058T>C	ENST00000314673.3	-	3	472	c.296A>G	c.(295-297)cAt>cGt	p.H99R	SNX14_ENST00000369627.2_Missense_Mutation_p.H99R|SNX14_ENST00000346348.3_Missense_Mutation_p.H99R|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Missense_Mutation_p.H99R|SNX14_ENST00000505648.1_Missense_Mutation_p.H47R|RP11-321N4.5_ENST00000503906.1_3'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	99					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AGCACAGCTATGACCTTGAGG	0.318													11	60					0	0	0	0	C	86282058	T	C	86282058	3	2	339	1	0	0	0	0	1	0	0	0	14973	1464	51	5	2652	5	SNX14	6	86282058	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	9530338	86282058	84833009	306	63314											
BACH2	60468	broad.mit.edu	37	chr6	90660226	90660226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcagggtgagcccccGctcccgtcctccgcgtagga	5	6	14	16	4	0	1	0	1	0	0	3	2	3	2	5	3	2	4	5	3	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:90660226G>T	ENST00000257749.4	-	7	2306	c.1599C>A	c.(1597-1599)agC>agA	p.S533R	BACH2_ENST00000343122.3_Missense_Mutation_p.S533R|BACH2_ENST00000537989.1_Missense_Mutation_p.S533R|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	533						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTGAGCCCCCGCTCCCGTCCT	0.622													5	54					1.23904e-05	1.68709e-05	1	0	T	90660226	G	T	90660226	3	4	339	1	0	0	0	0	1	0	0	0	1288	1078	38	3	938	3	BACH2	6	90660226	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4378168	90660226	80454841	307	63315											
EPHA7	2045	broad.mit.edu	37	chr6	93979302	93979302	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatctggaaaacatacactGttcctggtttcagattatta	13	14	7	7	0	2	1	1	0	1	1	3	3	3	2	1	2	2	2	1	2	6	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:93979302G>C	ENST00000369303.4	-	7	1710	c.1526C>G	c.(1525-1527)aCa>aGa	p.T509R		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	509	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AACATACACTGTTCCTGGTTT	0.398													9	77					0	0	0	0	C	93979302	G	C	93979302	3	2	339	1	0	0	0	0	1	0	0	0	5210	1377	48	4	1514	4	EPHA7	6	93979302	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3319076	93979302	77135765	308	63316											
EPHA7	2045	broad.mit.edu	37	chr6	94066539	94066539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaagtataattagcgtggGctagcaggtccatgacagtg	13	9	12	7	1	0	1	0	1	0	0	1	1	1	1	1	2	2	3	1	2	6	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:94066539G>T	ENST00000369303.4	-	5	1404	c.1220C>A	c.(1219-1221)gCc>gAc	p.A407D		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	407	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTAGCGTGGGCTAGCAGGTC	0.478													8	29					0.00307968	0.00353564	1	0	T	94066539	G	T	94066539	3	4	339	1	0	0	0	0	1	0	0	0	5210	1203	42	4	1828	4	EPHA7	6	94066539	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	87237	94066539	77048528	309	63317											
ASCC3	10973	broad.mit.edu	37	chr6	101076996	101076996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctctggcgtagtgacgaTaaggtcagccttggcaatgg	8	11	13	9	2	2	1	1	1	1	0	3	2	2	1	1	4	1	2	1	4	3	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:101076996T>C	ENST00000369162.2	-	27	4614	c.4270A>G	c.(4270-4272)Atc>Gtc	p.I1424V		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1424	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTAGTGACGATAAGGTCAGCC	0.428													5	20					0	0	0	0	C	101076996	T	C	101076996	3	2	339	1	0	0	0	0	1	0	0	0	1037	1406	49	5	2402	5	ASCC3	6	101076996	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	7010457	101076996	70038071	310	63318											
LIN28B	389421	broad.mit.edu	37	chr6	105474180	105474180	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctctttacagagcaaacTattcatggaaggatttagaa	14	12	8	7	0	2	2	1	0	1	2	2	4	2	4	0	2	4	2	0	2	6	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:105474180T>A	ENST00000345080.4	+	3	409	c.206T>A	c.(205-207)cTa>cAa	p.L69Q		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	69	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CAGAGCAAACTATTCATGGAA	0.338													9	79					0	0	0	0	A	105474180	T	A	105474180	3	1	339	1	0	0	0	0	1	0	0	0	8861	1522	53	5	216	5	LIN28B	6	105474180	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	4397184	105474180	65640887	311	63319											
MARCKS	4082	broad.mit.edu	37	chr6	114181714	114181714	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacaggaggcccagcccGagtgcagtccagaagccccc	9	3	11	18	1	1	1	1	0	0	1	2	3	2	2	6	2	3	1	6	2	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:114181714G>T	ENST00000368635.4	+	2	1339	c.958G>T	c.(958-960)Gag>Tag	p.E320*		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	320					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		GGCCCAGCCCGAGTGCAGTCC	0.672													7	33					0.0293803	0.0311868	1	0	T	114181714	G	T	114181714	4	4	339	1	0	0	0	0	0	1	0	0	9378	1059	37	3	964	3	MARCKS	6	114181714	Nonsense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	8707534	114181714	56933353	312	63320											
COL10A1	1300	broad.mit.edu	37	chr6	116446573	116446573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgggccttttatgcctgtgGgcatttggtatcgttcagcg	4	15	14	8	2	1	0	1	0	0	0	2	0	1	0	2	3	2	3	2	3	2	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:116446573G>C	ENST00000327673.4	-	1	490	c.83C>G	c.(82-84)cCc>cGc	p.P28R	COL10A1_ENST00000243222.4_Missense_Mutation_p.P28R|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	28	Nonhelical region (NC2).				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TATGCCTGTGGGCATTTGGTA	0.398													13	94					0	0	0	0	C	116446573	G	C	116446573	3	2	339	1	0	0	0	0	1	0	0	0	3696	1232	43	4	1967	4	COL10A1	6	116446573	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2264859	116446573	54668494	313	63321											
ROS1	6098	broad.mit.edu	37	chr6	117677901	117677901	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggtttctctaggttagaGgtatcaatagccattgctcc	10	14	9	8	0	2	1	1	0	1	1	4	1	3	1	2	3	2	4	2	3	6	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:117677901G>A	ENST00000368508.3	-	25	4230	c.4032C>T	c.(4030-4032)acC>acT	p.T1344T	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.T1339T	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1344					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTAGGTTAGAGGTATCAATAG	0.408			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								9	53					0	0	0	0	A	117677901	G	A	117677901	2	1	339	1	0	0	0	0	0	0	0	1	13616	987	35	4		4	ROS1	6	117677901	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1231328	117677901	53437166	314	63322											
C6orf58	352999	broad.mit.edu	37	chr6	127899830	127899830	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcatcctctctcctccaGgcagattagctgatccaacc	8	11	7	15	0	1	2	0	1	1	1	6	2	5	2	5	1	3	3	5	1	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:127899830G>T	ENST00000329722.7	+	2	313		c.e2-1		C6orf58_ENST00000498112.1_Splice_Site	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58							extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CTCTCCTCCAGGCAGATTAGC	0.418													11	75					9.70103e-10	1.57944e-09	1	0	T	127899830	G	T	127899830	5	4	339	1	0	0	0	0	0	0	1	0	2389	1014	35	4	307	4	C6orf58	6	127899830	Splice_Site	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	10221929	127899830	43215237	315	63323											
LAMA2	3908	broad.mit.edu	37	chr6	129828772	129828772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacatattttgacggaaccGgttttgccaaagcaggtaag	13	10	11	7	2	0	1	0	1	0	0	0	3	0	2	2	3	4	3	2	3	5	6	rs143638361	by1000genomes	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:129828772G>T	ENST00000421865.2	+	62	8891	c.8842G>T	c.(8842-8844)Ggt>Tgt	p.G2948C		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2948	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGACGGAACCGGTTTTGCCAA	0.433													16	102					6.31663e-08	9.82944e-08	1	0	T	129828772	G	T	129828772	3	4	339	1	0	0	0	0	1	0	0	0	8659	1116	39	3	9088	3	LAMA2	6	129828772	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1928942	129828772	41286295	316	63324											
EPB41L2	2037	broad.mit.edu	37	chr6	131206291	131206291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcttctcacttccctcCtgccgtccccatcttgtacc	3	14	6	18	1	2	0	1	0	2	0	6	0	5	0	6	1	2	2	6	1	1	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:131206291C>T	ENST00000337057.3	-	12	1959	c.1778G>A	c.(1777-1779)aGg>aAg	p.R593K	EPB41L2_ENST00000530481.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R593K|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R593K|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R593K|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R593K	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	593	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CACTTCCCTCCTGCCGTCCCC	0.468											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	55					0	0	0	0	T	131206291	C	T	131206291	3	4	339	1	0	0	0	0	1	0	0	0	5191	681	24	4	1271	4	EPB41L2	6	131206291	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1377519	131206291	39908776	317	63325											
CTAGE9	643854	broad.mit.edu	37	chr6	132029995	132029995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcctggaggaggtgggggGaaaggaggtcctcttctcat	7	10	17	7	0	2	0	1	0	2	0	5	4	4	4	2	8	0	1	2	8	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:132029995G>T	ENST00000314099.8	-	1	2211	c.2163C>A	c.(2161-2163)ttC>ttA	p.F721L	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	721	Pro-rich.					integral to membrane				endometrium(1)|lung(1)	2						GAGGTGGGGGGAAAGGAGGTC	0.522													11	95					6.40141e-05	8.32002e-05	1	0	T	132029995	G	T	132029995	3	4	339	1	0	0	0	0	1	0	0	0	4028	1165	41	2	174	2	CTAGE9	6	132029995	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	823704	132029995	39085072	318	63326											
SYNE1	23345	broad.mit.edu	37	chr6	152536195	152536195	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgaattttaacatctgtcCctagaaggaagatttaaaag	15	12	8	6	0	1	3	0	1	1	2	2	4	2	4	1	1	1	1	1	1	7	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:152536195C>A	ENST00000367255.5	-	122	22793	c.22191_splice	c.e122-1	p.G7398_splice	SYNE1_ENST00000265368.4_Splice_Site_p.G7398_splice|SYNE1_ENST00000356820.4_Splice_Site_p.G1922_splice|SYNE1_ENST00000448038.1_Splice_Site_p.G7327_splice|SYNE1_ENST00000341594.5_Splice_Site_p.G7010_splice|SYNE1_ENST00000423061.1_Splice_Site_p.G7327_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7398					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACATCTGTCCCTAGAAGGAA	0.378										HNSCC(10;0.0054)			6	67					4.096e-09	6.58671e-09	1	0	A	152536195	C	A	152536195	5	1	339	1	0	0	0	0	0	0	1	0	15536	637	22	4	4374	4	SYNE1	6	152536195	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	20506200	152536195	18578872	319	63327											
SYNE1	23345	broad.mit.edu	37	chr6	152603074	152603074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgatacctctgcagggcCtgttcctgcctttgttcctc	4	13	9	15	1	1	0	0	0	1	0	4	1	3	0	5	1	4	3	5	1	1	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:152603074C>A	ENST00000367255.5	-	97	18850	c.18249G>T	c.(18247-18249)caG>caT	p.Q6083H	SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6083H|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q607H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6012H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q5695H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6012H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6083					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGCAGGGCCTGTTCCTGCC	0.493										HNSCC(10;0.0054)			9	23					1.12685e-05	1.55281e-05	1	0	A	152603074	C	A	152603074	3	1	339	1	0	0	0	0	1	0	0	0	15536	680	24	4	8417	4	SYNE1	6	152603074	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	66879	152603074	18511993	320	63328											
SYNE1	23345	broad.mit.edu	37	chr6	152652823	152652823	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacacttggattttcctttTaatgaggtcctcaagctgaa	10	15	8	8	0	1	3	1	3	0	0	3	4	3	4	2	2	1	1	2	2	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:152652823T>G	ENST00000367255.5	-	78	13598	c.12997A>C	c.(12997-12999)Aaa>Caa	p.K4333Q	SYNE1_ENST00000265368.4_Missense_Mutation_p.K4333Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.K4262Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.K4198Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.K4262Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4333					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTTTCCTTTTAATGAGGTCC	0.428										HNSCC(10;0.0054)			13	66					0	0	0	0	G	152652823	T	G	152652823	3	3	339	1	0	0	0	0	1	0	0	0	15536	1763	61	5	13745	5	SYNE1	6	152652823	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	49749	152652823	18462244	321	63329											
SYNE1	23345	broad.mit.edu	37	chr6	152755007	152755007	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttctttctcagttaTccagacggacagagtctcaa	9	16	6	10	1	4	2	2	0	4	2	7	3	5	3	1	1	0	1	1	1	2	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:152755007T>C	ENST00000367255.5	-	34	4985	c.4384A>G	c.(4384-4386)Ata>Gta	p.I1462V	SYNE1_ENST00000265368.4_Missense_Mutation_p.I1462V|SYNE1_ENST00000448038.1_Missense_Mutation_p.I1469V|SYNE1_ENST00000341594.5_Missense_Mutation_p.I1532V|SYNE1_ENST00000367253.4_Missense_Mutation_p.I1462V|SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.I1469V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1462					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTCAGTTATCCAGACGGAC	0.358										HNSCC(10;0.0054)			7	25					0	0	0	0	C	152755007	T	C	152755007	3	2	339	1	0	0	0	0	1	0	0	0	15536	1435	50	5	22534	5	SYNE1	6	152755007	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	102184	152755007	18360060	322	63330											
SYNJ2	8871	broad.mit.edu	37	chr6	158485661	158485661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgcagctcaagaccctggGgctgagttcaaaacccatcg	10	8	10	13	1	3	2	2	1	1	1	4	2	3	2	2	2	3	4	2	2	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:158485661G>A	ENST00000355585.4	+	10	1313	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E	SYNJ2_ENST00000449859.2_Missense_Mutation_p.G341E|SYNJ2_ENST00000367122.2_Missense_Mutation_p.G413E|SYNJ2_ENST00000367121.3_Missense_Mutation_p.G413E	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	413	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AAGACCCTGGGGCTGAGTTCA	0.572													6	73					0	0	0	0	A	158485661	G	A	158485661	3	1	339	1	0	0	0	0	1	0	0	0	15544	1232	43	4	1276	4	SYNJ2	6	158485661	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	5730654	158485661	12629406	323	63331											
SNX8	29886	broad.mit.edu	37	chr7	2302892	2302892	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagccttgtcggcgagcagCgcgaattccacagacaggcc	9	5	13	14	4	0	1	0	0	0	1	2	3	1	1	3	2	3	2	3	2	1	2	rs145067811	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:2302892C>A	ENST00000222990.3	-	7	930	c.888G>T	c.(886-888)gcG>gcT	p.A296A		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	296					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGGCGAGCAGCGCGAATTCCA	0.622													4	25					1	1	1	0	A	2302892	C	A	2302892	2	1	339	1	0	0	0	0	0	0	0	1	14996	755	27	3		3	SNX8	7	2302892	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08		2302892	156835771	324	63332											
THSD7A	221981	broad.mit.edu	37	chr7	11521582	11521582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatggggaagatggcatctCtgcacagctgtctgtcaact	9	10	13	9	0	3	1	1	0	2	1	4	3	3	3	0	4	3	3	0	4	2	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:11521582C>G	ENST00000423059.3	-	7	2101	c.1850G>C	c.(1849-1851)aGa>aCa	p.R617T	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	617						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GATGGCATCTCTGCACAGCTG	0.493										HNSCC(18;0.044)			3	23					0	0	0	0	G	11521582	C	G	11521582	3	3	339	1	0	0	0	0	1	0	0	0	15973	913	32	2	3207	2	THSD7A	7	11521582	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	9218690	11521582	147617081	325	63333											
DGKB	1607	broad.mit.edu	37	chr7	14378140	14378140	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaattgttagaaaactgacCttgacttgcaaacttcaact	14	13	5	9	0	1	3	1	2	0	1	1	3	1	3	1	0	4	2	1	0	6	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:14378140C>G	ENST00000403951.2	-	23	2544	c.2125_splice	c.e23+1	p.D709_splice	DGKB_ENST00000407950.1_Splice_Site_p.D701_splice|DGKB_ENST00000406247.3_Splice_Site_p.D709_splice|DGKB_ENST00000399322.3_Splice_Site_p.D709_splice|DGKB_ENST00000258767.5_Splice_Site_p.D709_splice|DGKB_ENST00000402815.1_Splice_Site_p.D708_splice|DGKB_ENST00000444700.2_Splice_Site_p.D690_splice|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	709					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GAAAACTGACCTTGACTTGCA	0.358													7	56					0	0	0	0	G	14378140	C	G	14378140	5	3	339	1	0	0	0	0	0	0	1	0	4503	695	24	4	320	4	DGKB	7	14378140	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2856558	14378140	144760523	326	63334											
DNAH11	8701	broad.mit.edu	37	chr7	21737692	21737692	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcttatttactttttaGaccctgtgccatggtggccc	8	16	7	10	0	1	1	0	0	1	1	1	1	1	1	3	2	2	0	3	2	4	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:21737692G>T	ENST00000328843.6	+	37	6093		c.e37-1		DNAH11_ENST00000409508.3_Splice_Site			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTACTTTTTAGACCCTGTGCC	0.378									Kartagener syndrome				5	11					0.000602214	0.000724082	1	0	T	21737692	G	T	21737692	5	4	339	1	0	0	0	0	0	0	1	0	4636	956	33	2	6205	2	DNAH11	7	21737692	Splice_Site	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	7359552	21737692	137400971	327	63335											
TRA2A	29896	broad.mit.edu	37	chr7	23556039	23556039	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatggcttcggctccttcgCcgccggtattctggtgtata	5	13	12	11	4	1	0	0	0	1	0	4	1	2	0	3	4	0	4	3	4	4	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:23556039C>G	ENST00000297071.4	-	3	495	c.279G>C	c.(277-279)cgG>cgC	p.R93R	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	93	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GGCTCCTTCGCCGCCGGTATT	0.448													4	37					0	0	0	0	G	23556039	C	G	23556039	2	3	339	1	0	0	0	0	0	0	0	1	16528	726	26	4		4	TRA2A	7	23556039	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1818347	23556039	135582624	328	63336											
CHN2	1124	broad.mit.edu	37	chr7	29440186	29440186	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaccagaccttaaactacagGctcttccacgacgggaaaca	15	6	7	13	2	1	1	0	0	1	1	2	3	2	2	3	2	4	1	3	2	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:29440186G>A	ENST00000222792.6	+	6	848	c.318G>A	c.(316-318)agG>agA	p.R106R	CHN2_ENST00000539406.1_Silent_p.R181R|CHN2_ENST00000495789.2_Silent_p.R119R|CHN2_ENST00000546235.1_Silent_p.R91R|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539389.1_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	106	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TAAACTACAGGCTCTTCCACG	0.438													6	64					0	0	0	0	A	29440186	G	A	29440186	2	1	339	1	0	0	0	0	0	0	0	1	3392	1194	42	4		4	CHN2	7	29440186	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	5884147	29440186	129698477	329	63337											
NEUROD6	63974	broad.mit.edu	37	chr7	31378147	31378147	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcacactcaggggaagtacTttcatagaaggattcatacg	13	9	11	8	1	3	1	3	0	0	1	3	3	3	3	0	4	2	2	0	4	5	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:31378147T>A	ENST00000297142.3	-	2	1058	c.736A>T	c.(736-738)Agt>Tgt	p.S246C		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	246					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GGGGAAGTACTTTCATAGAAG	0.468													5	53					0	0	0	0	A	31378147	T	A	31378147	3	1	339	1	0	0	0	0	1	0	0	0	10421	1609	56	5	281	5	NEUROD6	7	31378147	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	1937961	31378147	127760516	330	63338											
BMPER	168667	broad.mit.edu	37	chr7	34192759	34192759	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggtccgggatgtatcaaGacgtgtgacaactggaatga	11	10	14	6	2	1	3	1	2	0	1	2	5	2	5	1	3	1	1	1	3	4	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:34192759G>C	ENST00000297161.2	+	16	2306	c.1932G>C	c.(1930-1932)aaG>aaC	p.K644N	BMPER_ENST00000426693.1_Missense_Mutation_p.K644N	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	644	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GATGTATCAAGACGTGTGACA	0.512													8	78					0	0	0	0	C	34192759	G	C	34192759	3	2	339	1	0	0	0	0	1	0	0	0	1473	933	33	2	1990	2	BMPER	7	34192759	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2814612	34192759	124945904	331	63339											
AMPH	273	broad.mit.edu	37	chr7	38471787	38471787	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagagttattagtggcttAccgtccataggtcccagggc	10	10	11	10	1	0	1	0	0	0	1	2	1	2	1	3	3	2	2	3	3	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:38471787A>G	ENST00000356264.2	-	13	1374		c.e13+1		AMPH_ENST00000325590.5_Splice_Site|AMPH_ENST00000428293.2_Splice_Site	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTAGTGGCTTACCGTCCATAG	0.323													4	20					0	0	0	0	G	38471787	A	G	38471787	5	3	339	1	0	0	0	0	0	0	1	0	588	405	14	5	963	5	AMPH	7	38471787	Splice_Site	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	4279028	38471787	120666876	332	63340											
GLI3	2737	broad.mit.edu	37	chr7	42088212	42088212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagggctgaagggagactcgGaagcagcagtggggttccgg	9	5	20	7	2	0	2	0	1	0	1	2	5	1	3	1	6	2	4	1	6	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:42088212G>A	ENST00000395925.3	-	5	641	c.557C>T	c.(556-558)tCc>tTc	p.S186F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	186					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGAGACTCGGAAGCAGCAGT	0.542									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				4	61					0	0	0	0	A	42088212	G	A	42088212	3	1	339	1	0	0	0	0	1	0	0	0	6490	1174	41	2	4229	2	GLI3	7	42088212	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3616425	42088212	117050451	333	63341											
PGAM2	5224	broad.mit.edu	37	chr7	44102488	44102488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatacacaatggggatccCcgtgggcaggttcagctcca	9	8	11	13	1	2	0	2	0	0	0	4	1	4	1	3	4	2	3	3	4	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:44102488C>T	ENST00000297283.3	-	3	694	c.637G>A	c.(637-639)Ggg>Agg	p.G213R		NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	213					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						ATGGGGATCCCCGTGGGCAGG	0.577													6	24					0	0	0	0	T	44102488	C	T	44102488	3	4	339	1	0	0	0	0	1	0	0	0	11846	623	22	4	128	4	PGAM2	7	44102488	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2014276	44102488	115036175	334	63342											
MYO1G	64005	broad.mit.edu	37	chr7	45014784	45014784	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcttacttggtagaaggCgtggaagtttctttcaccca	9	12	12	8	1	2	1	1	0	1	1	2	2	2	2	1	4	1	3	1	4	4	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:45014784C>G	ENST00000258787.7	-	5	743	c.607G>C	c.(607-609)Gcc>Ccc	p.A203P		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	203	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGGTAGAAGGCGTGGAAGTTT	0.592													15	131					0	0	0	0	G	45014784	C	G	45014784	3	3	339	1	0	0	0	0	1	0	0	0	10144	768	27	3	2521	3	MYO1G	7	45014784	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	912296	45014784	114123879	335	63343											
ZNF716	441234	broad.mit.edu	37	chr7	57522217	57522217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttctctggcggaatggCaatgcctggatcatgctcag	9	12	11	9	1	3	0	2	0	1	0	4	2	3	2	1	4	2	2	1	4	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:57522217C>A	ENST00000420713.1	+	2	203	c.91C>A	c.(91-93)Caa>Aaa	p.Q31K		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GGCGGAATGGCAATGCCTGGA	0.368													6	33					0.00116845	0.00137597	1	0	A	57522217	C	A	57522217	3	1	339	1	0	0	0	0	1	0	0	0	18214	711	25	4	97	4	ZNF716	7	57522217	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	12507433	57522217	101616446	336	63344											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73933816	73933816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgattcccaaggggtcacGggactgtggcctgcatggcc	6	8	14	13	1	1	1	1	1	0	0	2	2	2	2	4	5	1	1	4	5	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:73933816G>A	ENST00000476977.1	+	6	2374	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R228Q|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.R228Q|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R260Q			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	228						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGGGGTCACGGGACTGTGGC	0.657													6	74					0	0	0	0	A	73933816	G	A	73933816	3	1	339	1	0	0	0	0	1	0	0	0	6918	1116	39	1	701	1	GTF2IRD1	7	73933816	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	16411599	73933816	85204847	337	63345											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73933913	73933913	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagcttcctgtacagcacGgcgctccccaaccacgccat	8	6	8	19	3	0	0	0	0	0	0	2	0	2	0	6	1	4	4	6	1	2	2	rs144465935	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:73933913G>T	ENST00000476977.1	+	6	2471	c.780G>T	c.(778-780)acG>acT	p.T260T	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Silent_p.T260T|GTF2IRD1_ENST00000265755.3_Silent_p.T260T|GTF2IRD1_ENST00000455841.2_Silent_p.T292T			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	260						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTACAGCACGGCGCTCCCCA	0.692													4	35					0.00909568	0.00997907	1	0	T	73933913	G	T	73933913	2	4	339	1	0	0	0	0	0	0	0	1	6918	1103	39	3		3	GTF2IRD1	7	73933913	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	97	73933913	85204750	338	63346											
PCLO	27445	broad.mit.edu	37	chr7	82544059	82544059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatgctatgtcacggtCatagcctcgagtccgtgatt	9	12	11	9	3	2	2	2	2	0	0	4	4	3	2	2	1	2	1	2	1	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:82544059C>A	ENST00000423517.2	-	7	13580	c.13243G>T	c.(13243-13245)Gac>Tac	p.D4415Y	PCLO_ENST00000437081.1_Missense_Mutation_p.D1135Y|PCLO_ENST00000333891.8_Missense_Mutation_p.D4415Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4346					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGTCACGGTCATAGCCTCGA	0.468													3	23					1	1	1	0	A	82544059	C	A	82544059	3	1	339	1	0	0	0	0	1	0	0	0	11654	826	29	2	2278	2	PCLO	7	82544059	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	8610146	82544059	76594604	339	63347											
PCLO	27445	broad.mit.edu	37	chr7	82579755	82579755	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataccaggtggggcaatgtaCtgagtaacaccatcagactg	13	8	11	9	0	1	2	1	1	0	1	1	2	1	2	2	3	3	3	2	3	4	3	rs149116161	by1000genomes	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:82579755C>G	ENST00000423517.2	-	6	10486	c.10149G>C	c.(10147-10149)caG>caC	p.Q3383H	PCLO_ENST00000437081.1_Missense_Mutation_p.Q103H|PCLO_ENST00000333891.8_Missense_Mutation_p.Q3383H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3314					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCAATGTACTGAGTAACAC	0.453													6	38					0	0	0	0	G	82579755	C	G	82579755	3	3	339	1	0	0	0	0	1	0	0	0	11654	564	20	4	5376	4	PCLO	7	82579755	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	35696	82579755	76558908	340	63348											
PCLO	27445	broad.mit.edu	37	chr7	82764161	82764161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattcagactgaaacgccttGactgctcctgaggctttggg	8	11	12	10	1	1	4	1	3	0	1	2	5	2	4	2	2	2	2	2	2	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:82764161G>A	ENST00000423517.2	-	3	3042	c.2705C>T	c.(2704-2706)tCa>tTa	p.S902L	PCLO_ENST00000333891.8_Missense_Mutation_p.S902L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	848	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAACGCCTTGACTGCTCCTG	0.542													21	133					0	0	0	0	A	82764161	G	A	82764161	3	1	339	1	0	0	0	0	1	0	0	0	11654	1294	45	2	12832	2	PCLO	7	82764161	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	184406	82764161	76374502	341	63349											
PCLO	27445	broad.mit.edu	37	chr7	82764452	82764452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcccctgttggtggaaaaCtctgtgagggtttggcagag	7	13	14	7	0	1	2	0	1	1	1	2	3	2	3	2	4	1	3	2	4	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:82764452C>A	ENST00000423517.2	-	3	2751	c.2414G>T	c.(2413-2415)aGt>aTt	p.S805I	PCLO_ENST00000333891.8_Missense_Mutation_p.S805I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	751	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTGGAAAACTCTGTGAGGG	0.433													5	91					1.23904e-05	1.68709e-05	1	0	A	82764452	C	A	82764452	3	1	339	1	0	0	0	0	1	0	0	0	11654	565	20	4	13123	4	PCLO	7	82764452	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	291	82764452	76374211	342	63350											
SEMA3E	9723	broad.mit.edu	37	chr7	83029528	83029528	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatcaggatagtccttGgtggttccgtatctccctcc	6	13	9	13	1	3	0	2	0	1	0	7	1	6	1	4	3	0	3	4	3	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:83029528G>T	ENST00000307792.3	-	11	1649	c.1182C>A	c.(1180-1182)acC>acA	p.T394T	SEMA3E_ENST00000427262.1_Silent_p.T334T	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	394	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATAGTCCTTGGTGGTTCCGT	0.388													10	67					9.70103e-10	1.57944e-09	1	0	T	83029528	G	T	83029528	2	4	339	1	0	0	0	0	0	0	0	1	14115	1335	47	4		4	SEMA3E	7	83029528	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	265076	83029528	76109135	343	63351											
GRM3	2913	broad.mit.edu	37	chr7	86415996	86415996	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgccaatgcctccttcacCtgggtggccagcgacggctg	5	7	13	16	4	1	0	1	0	0	0	2	1	2	0	5	3	2	1	5	3	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:86415996C>A	ENST00000361669.2	+	3	1987	c.888C>A	c.(886-888)acC>acA	p.T296T	GRM3_ENST00000536043.1_Silent_p.T168T|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.T296T|GRM3_ENST00000394720.2_Silent_p.T294T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	296					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCTCCTTCACCTGGGTGGCCA	0.682													10	37					0.00621372	0.00701054	1	0	A	86415996	C	A	86415996	2	1	339	1	0	0	0	0	0	0	0	1	6848	668	24	4		4	GRM3	7	86415996	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3386468	86415996	72722667	344	63352											
ZNF804B	219578	broad.mit.edu	37	chr7	88963654	88963654	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaaagcaaggatggccacaCcactcttcaatggcctacgg	12	7	9	13	1	3	0	2	0	1	0	3	1	3	1	3	4	2	1	3	4	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:88963654C>A	ENST00000333190.4	+	4	1967	c.1358C>A	c.(1357-1359)aCc>aAc	p.T453N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	453						intracellular	zinc ion binding	p.T453N(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GATGGCCACACCACTCTTCAA	0.413										HNSCC(36;0.09)			6	57					8.12818e-05	0.000103873	1	0	A	88963654	C	A	88963654	3	1	339	1	0	0	0	0	1	0	0	0	18264	507	18	4	1372	4	ZNF804B	7	88963654	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2547658	88963654	70175009	345	63353											
FZD1	8321	broad.mit.edu	37	chr7	90895604	90895604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgctgggccaggtggacgGcgatgtgctgagcggagtgt	5	7	21	8	4	0	1	0	1	0	0	0	4	0	3	1	6	2	2	1	6	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:90895604G>T	ENST00000287934.2	+	1	1822	c.1409G>T	c.(1408-1410)gGc>gTc	p.G470V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	470					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CAGGTGGACGGCGATGTGCTG	0.627													8	95					1.12685e-05	1.55281e-05	1	0	T	90895604	G	T	90895604	3	4	339	1	0	0	0	0	1	0	0	0	6176	1203	42	4	1411	4	FZD1	7	90895604	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1931950	90895604	68243059	346	63354											
PEX1	5189	broad.mit.edu	37	chr7	92151424	92151424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtgcttacctgtccccCatttgagagtccaagttttt	8	15	7	11	0	0	1	0	1	0	1	2	2	2	1	4	0	2	2	4	0	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:92151424C>A	ENST00000248633.4	-	2	360	c.265G>T	c.(265-267)Ggg>Tgg	p.G89W	PEX1_ENST00000438045.1_Missense_Mutation_p.G89W|PEX1_ENST00000428214.1_Missense_Mutation_p.G89W	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	89					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ACCTGTCCCCCATTTGAGAGT	0.353													14	88					7.93312e-07	1.16889e-06	1	0	A	92151424	C	A	92151424	3	1	339	1	0	0	0	0	1	0	0	0	11807	594	21	4	3678	4	PEX1	7	92151424	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1255820	92151424	66987239	347	63355											
PON1	5444	broad.mit.edu	37	chr7	95025660	95025660	+	Translation_Start_Site	SNP	C	C	A																															accagcgccacgagcttcccCatggtctcggggtgcccagc																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:95025660C>A	ENST00000542556.1	-	1	13	c.3G>T	c.(1-3)atG>atT	p.M1I	PON3_ENST00000427422.1_Start_Codon_SNP_p.M1I|PON3_ENST00000265627.5_Start_Codon_SNP_p.M1I			P27169	PON1_HUMAN	paraoxonase 1	1					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CGAGCTTCCCCATGGTCTCGG	0.706													7	50					0.0293803	0.0311868	1	0	A	95025660	C	A	95025660	1	1	339	1	0	0	0	0	0	0	0	0	12320	594	21	4		4	PON1	7	95025660	Translation_Start_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2874236	95025660	64113003	348	63356	757	2									
PON1	5444	broad.mit.edu	37	chr7	95025661	95025661	+	Translation_Start_Site	SNP	A	A	T																															ccagcgccacgagcttccccAtggtctcggggtgcccagcg																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:95025661A>T	ENST00000542556.1	-	1	12	c.2T>A	c.(1-3)aTg>aAg	p.M1K	PON3_ENST00000427422.1_Start_Codon_SNP_p.M1K|PON3_ENST00000265627.5_Start_Codon_SNP_p.M1K			P27169	PON1_HUMAN	paraoxonase 1	1					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GAGCTTCCCCATGGTCTCGGG	0.706													7	50					0	0	0	0	T	95025661	A	T	95025661	1	4	339	1	0	0	0	0	0	0	0	0	12320	217	8	5		5	PON1	7	95025661	Translation_Start_Site	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	1	95025661	64113002	349	63357	757	2									
PDAP1	11333	broad.mit.edu	37	chr7	99002543	99002543	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcagggcttgtatacTgcctcgcccggcctttgtgg	3	13	11	14	2	2	0	1	0	1	0	4	0	2	0	4	3	2	2	4	3	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:99002543T>A	ENST00000350498.3	-	2	327	c.47A>T	c.(46-48)cAg>cTg	p.Q16L		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	16					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	GCTTGTATACTGCCTCGCCCG	0.637													5	27					0	0	0	0	A	99002543	T	A	99002543	3	1	339	1	0	0	0	0	1	0	0	0	11684	1580	55	5	518	5	PDAP1	7	99002543	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	3976882	99002543	60136120	350	63358											
CYP3A5	1577	broad.mit.edu	37	chr7	99270239	99270239	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagaataacattctttcacTagcactgttctgatcacgtc	12	13	5	11	1	4	2	2	1	2	1	5	2	4	2	0	0	2	2	0	0	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:99270239T>G	ENST00000343703.5	-	5	638	c.252A>C	c.(250-252)ctA>ctC	p.L84L	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000439761.1_Silent_p.L94L|CYP3A5_ENST00000222982.4_Silent_p.L94L|CYP3A5_ENST00000480723.1_5'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					ATTCTTTCACTAGCACTGTTC	0.383													11	107					0	0	0	0	G	99270239	T	G	99270239	2	3	339	1	0	0	0	0	0	0	0	1	4212	1509	53	5		5	CYP3A5	7	99270239	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	267696	99270239	59868424	351	63359											
OR2AE1	81392	broad.mit.edu	37	chr7	99473722	99473722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaattgcagtcgttgaatgCactgggtgataacatctctc	11	12	9	9	1	1	2	0	2	1	0	4	2	1	2	0	1	3	3	0	1	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:99473722C>A	ENST00000316368.2	-	1	958	c.935G>T	c.(934-936)tGc>tTc	p.C312F		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCGTTGAATGCACTGGGTGAT	0.403													10	84					0.000442599	0.00054214	1	0	A	99473722	C	A	99473722	3	1	339	1	0	0	0	0	1	0	0	0	11054	710	25	4	40	4	OR2AE1	7	99473722	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	203483	99473722	59664941	352	63360											
GPC2	221914	broad.mit.edu	37	chr7	99773204	99773204	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatccctcacctgcaggcgGaggcggcggggtgagtcccc	5	5	17	14	3	1	1	1	1	0	0	3	3	3	3	4	7	1	1	4	7	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:99773204G>T	ENST00000292377.2	-	3	806	c.639C>A	c.(637-639)ctC>ctA	p.L213L		NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	213						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTGCAGGCGGAGGCGGCGGG	0.612													3	12					0.004672	0.00530382	1	0	T	99773204	G	T	99773204	2	4	339	1	0	0	0	0	0	0	0	1	6647	1161	41	2		2	GPC2	7	99773204	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	299482	99773204	59365459	353	63361											
ZAN	7455	broad.mit.edu	37	chr7	100358065	100358065	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccctctaaaggcgtcttcCtgggtgcaagcgggcggttt	6	11	13	11	3	2	0	0	0	2	0	3	0	3	0	2	4	3	2	2	4	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:100358065C>T	ENST00000542585.1	+	0	3896				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGCGTCTTCCTGGGTGCAAG	0.582													11	57					0	0	0	0	T	100358065	C	T	100358065	1	4	339	0	1	0	0	0	0	0	0	0	17609	680	24	4		4	ZAN	7	100358065	RNA	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	584861	100358065	58780598	354	63362											
SRPK2	6733	broad.mit.edu	37	chr7	104783612	104783612	+	Missense_Mutation	SNP	C	C	A																															ctctgggcagtattcgccatCctggtcattggaaggtgcag																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:104783612C>A	ENST00000357311.3	-	9	1117	c.946G>T	c.(946-948)Gat>Tat	p.D316Y	SRPK2_ENST00000489828.1_Missense_Mutation_p.D316Y|SRPK2_ENST00000393651.3_Missense_Mutation_p.D327Y	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	316	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TATTCGCCATCCTGGTCATTG	0.493													6	80					8.12818e-05	0.000103873	1	0	A	104783612	C	A	104783612	3	1	339	1	0	0	0	0	1	0	0	0	15250	855	30	2	1148	2	SRPK2	7	104783612	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	4425547	104783612	54355051	355	63363	758	2									
SRPK2	6733	broad.mit.edu	37	chr7	104783613	104783613	+	Missense_Mutation	SNP	C	C	A																															tctgggcagtattcgccatcCtggtcattggaaggtgcagc																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:104783613C>A	ENST00000357311.3	-	9	1116	c.945G>T	c.(943-945)caG>caT	p.Q315H	SRPK2_ENST00000489828.1_Missense_Mutation_p.Q315H|SRPK2_ENST00000393651.3_Missense_Mutation_p.Q326H	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	315	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.Q315H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATTCGCCATCCTGGTCATTGG	0.488													6	81					8.12818e-05	0.000103873	1	0	A	104783613	C	A	104783613	3	1	339	1	0	0	0	0	1	0	0	0	15250	680	24	4	1149	4	SRPK2	7	104783613	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1	104783613	54355050	356	63364	758	2									
CTTNBP2	83992	broad.mit.edu	37	chr7	117359589	117359589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagactcagacttgctggagCacatgctctgaagttccttg	9	11	10	11	0	2	3	1	1	1	2	3	4	3	4	1	1	3	4	1	1	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:117359589C>A	ENST00000160373.3	-	21	4704	c.4613G>T	c.(4612-4614)tGc>tTc	p.C1538F		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1538										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTTGCTGGAGCACATGCTCTG	0.468													6	49					0.0215528	0.0230114	1	0	A	117359589	C	A	117359589	3	1	339	1	0	0	0	0	1	0	0	0	4077	710	25	4	390	4	CTTNBP2	7	117359589	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	12575976	117359589	41779074	357	63365											
GPR37	2861	broad.mit.edu	37	chr7	124404159	124404159	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttggagatgctccgcatgTagtagttgtggcacacgatg	9	11	14	7	2	0	1	0	0	0	1	1	3	1	1	1	2	1	7	1	2	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:124404159T>C	ENST00000303921.2	-	1	1522	c.872A>G	c.(871-873)tAc>tGc	p.Y291C		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	291						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTCCGCATGTAGTAGTTGTG	0.562													11	70					0	0	0	0	C	124404159	T	C	124404159	3	2	339	1	0	0	0	0	1	0	0	0	6740	1638	57	5	977	5	GPR37	7	124404159	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	7044570	124404159	34734504	358	63366											
AKR1B15	441282	broad.mit.edu	37	chr7	134254248	134254248	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagctgagctatctggaCgtctatcttattcactggcc	8	13	9	11	1	4	2	1	2	3	0	4	3	4	3	1	2	2	2	1	2	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:134254248C>A	ENST00000457545.2	+	5	662	c.402C>A	c.(400-402)gaC>gaA	p.D134E	AKR1B15_ENST00000423958.1_Missense_Mutation_p.D106E	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	134							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCTATCTGGACGTCTATCTTA	0.502													7	72					8.12818e-05	0.000103873	1	0	A	134254248	C	A	134254248	3	1	339	1	0	0	0	0	1	0	0	0	468	535	19	3	412	3	AKR1B15	7	134254248	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	9850089	134254248	24884415	359	63367											
AKR1B15	441282	broad.mit.edu	37	chr7	134256362	134256362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttctgtatttacagactgggGatgactttttccccaaagat	10	15	8	8	0	1	3	0	1	1	2	2	4	2	4	2	2	1	1	2	2	3	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:134256362G>C	ENST00000457545.2	+	6	702	c.442G>C	c.(442-444)Gat>Cat	p.D148H	AKR1B15_ENST00000423958.1_Missense_Mutation_p.D120H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	148							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ACAGACTGGGGATGACTTTTT	0.423													4	54					0	0	0	0	C	134256362	G	C	134256362	3	2	339	1	0	0	0	0	1	0	0	0	468	1174	41	2	456	2	AKR1B15	7	134256362	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2114	134256362	24882301	360	63368											
HIPK2	28996	broad.mit.edu	37	chr7	139288949	139288949	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggggaagcaggatctgctgGgtcccacttggccaagcctg	7	7	16	11	0	1	0	0	0	1	0	2	2	2	2	3	5	3	2	3	5	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:139288949G>T	ENST00000406875.3	-	10	2227	c.2133C>A	c.(2131-2133)acC>acA	p.T711T	HIPK2_ENST00000342645.6_Silent_p.T711T|HIPK2_ENST00000428878.2_Silent_p.T684T	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	711	Interaction with SKI and SMAD1.			T -> N (in Ref. 4; AAG35710).	apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGATCTGCTGGGTCCCACTTG	0.532													8	92					3.09899e-07	4.66377e-07	1	0	T	139288949	G	T	139288949	2	4	339	1	0	0	0	0	0	0	0	1	7167	1219	43	4		4	HIPK2	7	139288949	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	5032587	139288949	19849714	361	63369											
C7orf34	135927	broad.mit.edu	37	chr7	142637649	142637649	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggacattcccaaatatccAactctgcttcatgctcactc	10	11	5	15	1	3	0	2	0	1	0	6	1	5	1	2	1	3	2	2	1	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142637649A>C	ENST00000409607.3	+	2	460	c.419A>C	c.(418-420)cAa>cCa	p.Q140P		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	115						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CCAAATATCCAACTCTGCTTC	0.542													8	62					0	0	0	0	C	142637649	A	C	142637649	3	2	339	1	0	0	0	0	1	0	0	0	2412	130	5	5	425	5	C7orf34	7	142637649	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	3348700	142637649	16501014	362	63370											
KEL	3792	broad.mit.edu	37	chr7	142638490	142638490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgggggctgggcttcCtacacatcacctgagcagga	8	8	13	12	0	1	1	1	1	0	0	3	2	3	2	3	4	2	3	3	4	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142638490C>T	ENST00000355265.2	-	19	2522	c.2048G>A	c.(2047-2049)aGg>aAg	p.R683K		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	683					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCTGGGCTTCCTACACATCAC	0.607													4	53					0	0	0	0	T	142638490	C	T	142638490	3	4	339	1	0	0	0	0	1	0	0	0	8194	681	24	4	154	4	KEL	7	142638490	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	841	142638490	16500173	363	63371											
OR9A2	135924	broad.mit.edu	37	chr7	142723572	142723572	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggatggtggagataatGtaggtgtaggagacaatcgt	12	11	16	2	1	0	3	0	1	0	2	1	6	0	4	0	5	0	2	0	5	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142723572G>A	ENST00000350513.2	-	1	710	c.648C>T	c.(646-648)taC>taT	p.Y216Y		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TGGAGATAATGTAGGTGTAGG	0.463													5	60					0	0	0	0	A	142723572	G	A	142723572	2	1	339	1	0	0	0	0	0	0	0	1	11319	1372	48	4		4	OR9A2	7	142723572	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	85082	142723572	16415091	364	63372											
OR9A2	135924	broad.mit.edu	37	chr7	142724147	142724147	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaatatagcaaaaagaaTgtggtgtagtccttgggacc	16	9	11	5	0	0	2	0	0	0	2	1	3	1	3	2	2	1	2	2	2	8	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142724147T>C	ENST00000350513.2	-	1	135	c.73A>G	c.(73-75)Att>Gtt	p.I25V		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GCAAAAAGAATGTGGTGTAGT	0.423													7	46					0	0	0	0	C	142724147	T	C	142724147	3	2	339	1	0	0	0	0	1	0	0	0	11319	1464	51	5	863	5	OR9A2	7	142724147	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	575	142724147	16414516	365	63373											
OR2F2	135948	broad.mit.edu	37	chr7	143632476	143632476	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgtccttctgatcagaCtggacagccgactccacact	9	11	7	14	1	3	2	2	1	1	1	5	4	5	3	3	1	1	0	3	1	0	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:143632476C>A	ENST00000408955.2	+	1	218	c.151C>A	c.(151-153)Ctg>Atg	p.L51M		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCTGATCAGACTGGACAGCCG	0.517													7	160					0.00198382	0.00229771	1	0	A	143632476	C	A	143632476	3	1	339	1	0	0	0	0	1	0	0	0	11068	564	20	4	153	4	OR2F2	7	143632476	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	908329	143632476	15506187	366	63374											
OR2A14	135941	broad.mit.edu	37	chr7	143827100	143827100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgcagaggtcaagggcGccctgaggagggcactgagg	10	4	19	8	1	1	3	1	2	0	1	1	5	1	5	1	6	1	2	1	6	2	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:143827100G>T	ENST00000408899.2	+	1	950	c.895G>T	c.(895-897)Gcc>Tcc	p.A299S		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A299T(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GGTCAAGGGCGCCCTGAGGAG	0.512													6	88					0.00116845	0.00137597	1	0	T	143827100	G	T	143827100	3	4	339	1	0	0	0	0	1	0	0	0	11047	1087	38	3	897	3	OR2A14	7	143827100	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	194624	143827100	15311563	367	63375											
KCNH2	3757	broad.mit.edu	37	chr7	150648112	150648112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaagcggatgaactccCgcacccgcagcatctgtgtg	8	7	14	12	3	1	1	0	1	1	0	2	3	2	3	2	3	3	3	2	3	2	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:150648112C>G	ENST00000392968.2	-	6	2874	c.1754G>C	c.(1753-1755)cGg>cCg	p.R585P	KCNH2_ENST00000330883.4_Missense_Mutation_p.R341P|KCNH2_ENST00000262186.5_Missense_Mutation_p.R681P|KCNH2_ENST00000430723.3_Missense_Mutation_p.R681P			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	681			W -> C (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GATGAACTCCCGCACCCGCAG	0.617													4	35					0	0	0	0	G	150648112	C	G	150648112	3	3	339	1	0	0	0	0	1	0	0	0	8085	652	23	3	1738	3	KCNH2	7	150648112	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	6821012	150648112	8490551	368	63376											
HTR5A	3361	broad.mit.edu	37	chr7	154875955	154875955	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggggacacgtggcgggagCagaaggagcagcgggccgcc	10	1	20	10	4	0	1	0	0	0	1	0	4	0	4	2	6	3	2	2	6	2	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:154875955C>T	ENST00000287907.2	+	2	1408	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	278						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTGGCGGGAGCAGAAGGAGCA	0.612													5	53					0	0	0	0	T	154875955	C	T	154875955	4	4	339	1	0	0	0	0	0	1	0	0	7503	711	25	4	838	4	HTR5A	7	154875955	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	4227843	154875955	4262708	369	63377											
CSMD1	64478	broad.mit.edu	37	chr8	2855597	2855597	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggctcgagacacgccCtgcagcaaatagcccgtgtt	9	7	11	14	3	0	1	0	0	0	1	1	2	0	1	2	1	3	4	2	1	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:2855597C>A	ENST00000602557.1	-	55	8871	c.8316G>T	c.(8314-8316)caG>caT	p.Q2772H	CSMD1_ENST00000400186.3_Missense_Mutation_p.Q2714H|CSMD1_ENST00000520002.1_Missense_Mutation_p.Q2772H|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q2713H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q2714H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q2771H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2772	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAGACACGCCCTGCAGCAAAT	0.567													8	28					0.00307968	0.00353564	1	0	A	2855597	C	A	2855597	3	1	339	1	0	0	0	0	1	0	0	0	3976	680	24	4	2449	4	CSMD1	8	2855597	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08		2855597	143508425	370	63378											
MTUS1	57509	broad.mit.edu	37	chr8	17579397	17579397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtacaactgcgaaatcctCctggtacagtcatttaaaag	13	11	7	10	1	1	0	1	0	0	0	3	1	3	0	2	1	4	2	2	1	6	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:17579397C>A	ENST00000381861.3	-	1	333	c.14G>T	c.(13-15)gGa>gTa	p.G5V	MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000262102.6_Intron|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381869.3_Intron	NM_001001931.2	NP_001001931.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	0						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GCGAAATCCTCCTGGTACAGT	0.418													16	27					2.32078e-09	3.7518e-09	1	0	A	17579397	C	A	17579397	3	1	339	1	0	0	0	0	1	0	0	0	10035	855	30	2	1712	2	MTUS1	8	17579397	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	14723800	17579397	128784625	371	63379											
MTUS1	57509	broad.mit.edu	37	chr8	17612165	17612165	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttgggttcccaaatcCtttcctttggagaccatttg	7	17	8	9	0	0	2	0	1	0	1	3	3	3	2	4	2	0	1	4	2	1	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:17612165C>G	ENST00000381869.3	-	2	1625	c.1152G>C	c.(1150-1152)aaG>aaC	p.K384N	MTUS1_ENST00000262102.6_Missense_Mutation_p.K384N|MTUS1_ENST00000381862.3_Missense_Mutation_p.K384N|MTUS1_ENST00000519263.1_Missense_Mutation_p.K384N	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	384						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTCCCAAATCCTTTCCTTTGG	0.448													8	36					0	0	0	0	G	17612165	C	G	17612165	3	3	339	1	0	0	0	0	1	0	0	0	10035	680	24	4	3035	4	MTUS1	8	17612165	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	32768	17612165	128751857	372	63380											
CLU	1191	broad.mit.edu	37	chr8	27463875	27463875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtccccttttcacctggCggccaaccaggcctgagcca	6	9	10	16	1	1	1	1	1	0	0	2	1	2	1	7	3	2	0	7	3	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:27463875C>A	ENST00000316403.10	-	4	818	c.413G>T	c.(412-414)cGc>cTc	p.R138L	CLU_ENST00000560366.1_Missense_Mutation_p.R190L|CLU_ENST00000546343.1_Missense_Mutation_p.R149L|CLU_ENST00000523500.1_Missense_Mutation_p.R138L|CLU_ENST00000405140.3_Missense_Mutation_p.R138L			P10909	CLUS_HUMAN	clusterin	138					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TTTCACCTGGCGGCCAACCAG	0.552													14	37					9.31168e-06	1.29486e-05	1	0	A	27463875	C	A	27463875	3	1	339	1	0	0	0	0	1	0	0	0	3598	768	27	3	960	3	CLU	8	27463875	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	9851710	27463875	118900147	373	63381											
GPR124	25960	broad.mit.edu	37	chr8	37696482	37696482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctttcccaggagctgagCgcctttcccagggaggtggg	5	8	15	13	1	0	1	0	1	0	0	2	3	2	3	4	4	2	1	4	4	0	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:37696482C>A	ENST00000315215.7	+	12	1980	c.1617C>A	c.(1615-1617)agC>agA	p.S539R	GPR124_ENST00000412232.2_Missense_Mutation_p.S756R			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	756					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGGAGCTGAGCGCCTTTCCCA	0.672													5	27					0.000602214	0.000724082	1	0	A	37696482	C	A	37696482	3	1	339	1	0	0	0	0	1	0	0	0	6687	767	27	3	2305	3	GPR124	8	37696482	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	10232607	37696482	108667540	374	63382											
ZMAT4	79698	broad.mit.edu	37	chr8	40532265	40532265	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttgtccccagttgttctaAcaaagcaactcttgccgcat	9	12	8	12	1	2	0	0	0	2	0	3	0	3	0	3	1	4	5	3	1	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:40532265A>G	ENST00000297737.6	-	5	681	c.535T>C	c.(535-537)Tta>Cta	p.L179L	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	179						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			AGTTGTTCTAACAAAGCAACT	0.483													9	126					0	0	0	0	G	40532265	A	G	40532265	2	3	339	1	0	0	0	0	0	0	0	1	17789	40	2	5		5	ZMAT4	8	40532265	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	2835783	40532265	105831757	375	63383											
ZMAT4	79698	broad.mit.edu	37	chr8	40532359	40532359	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaggctgcacagagcccAcagtatctgtctgaatctct	11	9	8	13	0	3	2	0	1	3	1	4	2	3	2	2	1	3	3	2	1	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:40532359A>G	ENST00000297737.6	-	5	587	c.441T>C	c.(439-441)tgT>tgC	p.C147C	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	147						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CACAGAGCCCACAGTATCTGT	0.498													31	174					0	0	0	0	G	40532359	A	G	40532359	2	3	339	1	0	0	0	0	0	0	0	1	17789	157	6	5		5	ZMAT4	8	40532359	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	94	40532359	105831663	376	63384											
PRKDC	5591	broad.mit.edu	37	chr8	48689409	48689409	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catataaaaatcttaccaagTaatgactgctggattggcac	15	11	7	8	0	1	1	0	1	1	0	1	2	1	2	1	2	2	3	1	2	7	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:48689409T>A	ENST00000314191.2	-	86	12231	c.12175A>T	c.(12175-12177)Act>Tct	p.T4059S	PRKDC_ENST00000338368.3_Missense_Mutation_p.T4028S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	4060					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCTTACCAAGTAATGACTGCT	0.388								Non-homologous end-joining					4	23					0	0	0	0	A	48689409	T	A	48689409	3	1	339	1	0	0	0	0	1	0	0	0	12601	1638	57	5	216	5	PRKDC	8	48689409	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	8157050	48689409	97674613	377	63385											
PRKDC	5591	broad.mit.edu	37	chr8	48706909	48706909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccttgaaggaatagctttCgctgcttatgatgaagggat	11	13	11	6	1	0	3	0	3	0	0	2	5	1	5	1	2	2	3	1	2	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:48706909C>T	ENST00000314191.2	-	75	10665	c.10609G>A	c.(10609-10611)Gaa>Aaa	p.E3537K	PRKDC_ENST00000338368.3_Missense_Mutation_p.E3537K|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3538	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAATAGCTTTCGCTGCTTATG	0.403								Non-homologous end-joining					7	19					0	0	0	0	T	48706909	C	T	48706909	3	4	339	1	0	0	0	0	1	0	0	0	12601	893	31	1	1826	1	PRKDC	8	48706909	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	17500	48706909	97657113	378	63386											
PXDNL	137902	broad.mit.edu	37	chr8	52321180	52321180	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcgcccacgatcttccTggcttcctggtaaaccgtgt	5	11	9	16	4	1	0	0	0	1	0	4	1	4	0	5	2	1	2	5	2	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:52321180T>A	ENST00000356297.4	-	17	3104	c.3004A>T	c.(3004-3006)Agg>Tgg	p.R1002W	PXDNL_ENST00000543296.1_Missense_Mutation_p.R1002W	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1002					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACGATCTTCCTGGCTTCCTGG	0.632													3	10					0	0	0	0	A	52321180	T	A	52321180	3	1	339	1	0	0	0	0	1	0	0	0	12930	1579	55	5	1415	5	PXDNL	8	52321180	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	3614271	52321180	94042842	379	63387											
RB1CC1	9821	broad.mit.edu	37	chr8	53569364	53569364	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaagaaactctgtggtCtgtcataaccttctcaaact	12	12	5	12	0	4	1	2	0	3	1	6	1	5	1	2	1	3	0	2	1	4	2	rs139382244		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:53569364C>A	ENST00000025008.5	-	15	3548	c.3025G>T	c.(3025-3027)Gac>Tac	p.D1009Y	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.D1009Y|RB1CC1_ENST00000539297.1_Missense_Mutation_p.D1009Y	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1009					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACTCTGTGGTCTGTCATAACC	0.358													11	88					3.86212e-05	5.08466e-05	1	0	A	53569364	C	A	53569364	3	1	339	1	0	0	0	0	1	0	0	0	13181	913	32	2	1799	2	RB1CC1	8	53569364	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1248184	53569364	92794658	380	63388											
RP1	6101	broad.mit.edu	37	chr8	55533787	55533787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaacatcagcacccctcgGggcaggcacagcatcacgcg	11	3	12	15	3	2	0	2	0	0	0	3	1	2	1	2	4	3	4	2	4	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:55533787G>A	ENST00000220676.1	+	2	409	c.261G>A	c.(259-261)cgG>cgA	p.R87R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	87	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCACCCCTCGGGGCAGGCACA	0.592													7	58					0	0	0	0	A	55533787	G	A	55533787	2	1	339	1	0	0	0	0	0	0	0	1	13617	1219	43	4		4	RP1	8	55533787	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1964423	55533787	90830235	381	63389											
RP1	6101	broad.mit.edu	37	chr8	55539512	55539512	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttcccctgcatgaacacTgtactttgtcacagtcagct	8	13	8	12	0	2	1	2	1	0	0	3	1	3	1	2	1	4	4	2	1	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:55539512T>A	ENST00000220676.1	+	4	3218	c.3070T>A	c.(3070-3072)Tgt>Agt	p.C1024S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1024					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCATGAACACTGTACTTTGTC	0.368													23	169					0	0	0	0	A	55539512	T	A	55539512	3	1	339	1	0	0	0	0	1	0	0	0	13617	1580	55	5	3080	5	RP1	8	55539512	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	5725	55539512	90824510	382	63390											
ASPH	444	broad.mit.edu	37	chr8	62430612	62430612	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctcttctgcatcctgtTgtctcggggaacttttctag	4	17	9	11	1	4	0	0	0	4	0	7	1	6	1	2	2	2	2	2	2	2	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:62430612T>C	ENST00000541428.1	-	23	2044	c.1884A>G	c.(1882-1884)acA>acG	p.T628T	ASPH_ENST00000379454.4_Silent_p.T657T	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	657					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGCATCCTGTTGTCTCGGGGA	0.398													5	77					0	0	0	0	C	62430612	T	C	62430612	2	2	339	1	0	0	0	0	0	0	0	1	1057	1799	63	5		5	ASPH	8	62430612	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	6891100	62430612	83933410	383	63391											
CYP7B1	9420	broad.mit.edu	37	chr8	65509309	65509309	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcaattatttctaaatCaaaataagttaaaagtataa	21	14	2	4	0	4	0	3	0	1	0	4	0	4	0	0	0	0	2	0	0	11	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:65509309C>A	ENST00000310193.3	-	6	1584	c.1411G>T	c.(1411-1413)Gat>Tat	p.D471Y	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	471					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ATTTCTAAATCAAAATAAGTT	0.333													13	31					5.50884e-06	7.74284e-06	1	0	A	65509309	C	A	65509309	3	1	339	1	0	0	0	0	1	0	0	0	4229	826	29	2	113	2	CYP7B1	8	65509309	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3078697	65509309	80854713	384	63392											
ARFGEF1	10565	broad.mit.edu	37	chr8	68213491	68213491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagatgtactaactatgcGaggacatttggactggcatg	12	11	12	6	1	0	1	0	0	0	1	0	5	0	3	0	3	3	2	0	3	4	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:68213491G>T	ENST00000262215.3	-	3	669	c.280C>A	c.(280-282)Cgc>Agc	p.R94S		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	94					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTAACTATGCGAGGACATTTG	0.373													9	53					3.09899e-07	4.66377e-07	1	0	T	68213491	G	T	68213491	3	4	339	1	0	0	0	0	1	0	0	0	854	1058	37	3	5417	3	ARFGEF1	8	68213491	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2704182	68213491	78150531	385	63393											
PREX2	80243	broad.mit.edu	37	chr8	69046472	69046472	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagatagcgaatgcaggTgttctttttcactttcagtc	9	14	9	9	1	3	1	2	0	1	1	4	3	3	1	1	1	2	2	1	1	2	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:69046472T>G	ENST00000288368.4	+	32	4222	c.3945T>G	c.(3943-3945)ggT>ggG	p.G1315G		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1315					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CGAATGCAGGTGTTCTTTTTC	0.463													7	45					0	0	0	0	G	69046472	T	G	69046472	2	3	339	1	0	0	0	0	0	0	0	1	12557	1683	59	5		5	PREX2	8	69046472	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	832981	69046472	77317550	386	63394											
SULF1	23213	broad.mit.edu	37	chr8	70539467	70539467	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttattcttcccaatgacTctatccattgtgagagagaa	11	15	7	8	0	2	3	0	2	2	2	4	5	4	3	2	0	0	1	2	0	4	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:70539467T>A	ENST00000260128.4	+	16	2590	c.1873T>A	c.(1873-1875)Tct>Act	p.S625T	SULF1_ENST00000402687.4_Missense_Mutation_p.S625T|SULF1_ENST00000458141.2_Missense_Mutation_p.S625T|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.S625T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	625					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCCCAATGACTCTATCCATTG	0.388													3	20					0	0	0	0	A	70539467	T	A	70539467	3	1	339	1	0	0	0	0	1	0	0	0	15460	1551	54	5	1919	5	SULF1	8	70539467	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	1492995	70539467	75824555	387	63395											
TRPA1	8989	broad.mit.edu	37	chr8	72964993	72964993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttgcagcaaagtgaagtGcagtgttcttttgaagaaaa	13	11	10	7	0	1	3	0	2	1	1	1	3	1	3	1	0	3	4	1	0	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:72964993G>C	ENST00000262209.4	-	14	1859	c.1652C>G	c.(1651-1653)gCa>gGa	p.A551G	RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	551						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAAGTGAAGTGCAGTGTTCTT	0.453													6	56					0	0	0	0	C	72964993	G	C	72964993	3	2	339	1	0	0	0	0	1	0	0	0	16672	1319	46	4	1763	4	TRPA1	8	72964993	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2425526	72964993	73399029	388	63396											
STAU2	27067	broad.mit.edu	37	chr8	74526175	74526175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcttttcatatgtggtggtCcactttctttaataacctat	9	18	6	8	0	2	0	1	0	1	0	3	0	3	0	2	2	2	1	2	2	4	8			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:74526175C>A	ENST00000355780.5	-	8	817	c.599G>T	c.(598-600)gGa>gTa	p.G200V	STAU2_ENST00000522695.1_Missense_Mutation_p.G200V|STAU2_ENST00000519961.1_Missense_Mutation_p.G232V|STAU2_ENST00000524300.1_Missense_Mutation_p.G232V|STAU2_ENST00000523558.1_Missense_Mutation_p.G60V|STAU2_ENST00000521451.1_Missense_Mutation_p.G12V|STAU2_ENST00000521727.1_Missense_Mutation_p.G212V|STAU2_ENST00000521210.1_Missense_Mutation_p.G128V|STAU2_ENST00000517542.1_Missense_Mutation_p.G194V|STAU2_ENST00000522509.1_Missense_Mutation_p.G200V	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	232					transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			ATGTGGTGGTCCACTTTCTTT	0.348													3	17					0.115264	0.120258	1	0	A	74526175	C	A	74526175	3	1	339	1	0	0	0	0	1	0	0	0	15363	855	30	2	1169	2	STAU2	8	74526175	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1561182	74526175	71837847	389	63397											
ZFHX4	79776	broad.mit.edu	37	chr8	77763359	77763359	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaagtatcgctgtaaccAttgtagcttggctttcaaaa	12	13	7	9	1	1	0	1	0	0	0	2	0	1	0	1	1	3	6	1	1	7	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:77763359A>T	ENST00000521891.2	+	10	4650	c.4202A>T	c.(4201-4203)cAt>cTt	p.H1401L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1356L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1356L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1375L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1356						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGCTGTAACCATTGTAGCTTG	0.448										HNSCC(33;0.089)			6	30					0	0	0	0	T	77763359	A	T	77763359	3	4	339	1	0	0	0	0	1	0	0	0	17730	217	8	5	4236	5	ZFHX4	8	77763359	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	3237184	77763359	68600663	390	63398											
CA2	760	broad.mit.edu	37	chr8	86386567	86386567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttagcttcacttggttcaCtggaacaccaaatatgggga	11	11	9	10	0	2	0	2	0	0	0	2	2	2	2	2	4	2	2	2	4	4	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:86386567C>T	ENST00000285379.5	+	4	596	c.366C>T	c.(364-366)caC>caT	p.H122H		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	122					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	ACTTGGTTCACTGGAACACCA	0.403													13	75					0	0	0	0	T	86386567	C	T	86386567	2	4	339	1	0	0	0	0	0	0	0	1	2541	564	20	4		4	CA2	8	86386567	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	8623208	86386567	59977455	391	63399											
CNBD1	168975	broad.mit.edu	37	chr8	88366014	88366014	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagataaggacctatttGgtaaatgcataaatatcttt	15	15	7	4	0	1	2	0	1	1	1	1	3	1	3	1	2	1	2	1	2	8	8			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:88366014G>T	ENST00000518476.1	+	10	1354	c.1303_splice	c.e10+1	p.V435_splice		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	435										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GGACCTATTTGGTAAATGCAT	0.289													3	26					0.004672	0.00530382	1	0	T	88366014	G	T	88366014	5	4	339	1	0	0	0	0	0	0	1	0	3621	1362	47	4	1341	4	CNBD1	8	88366014	Splice_Site	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1979447	88366014	57998008	392	63400											
CDH17	1015	broad.mit.edu	37	chr8	95164106	95164106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctttaccttatgtccaGaccttctggatccttggcag	6	14	8	13	0	1	1	0	0	1	1	3	2	3	2	5	2	2	1	5	2	2	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:95164106G>T	ENST00000027335.3	-	13	1910	c.1786C>A	c.(1786-1788)Ctg>Atg	p.L596M	CDH17_ENST00000441892.2_Missense_Mutation_p.L382M|CDH17_ENST00000450165.2_Missense_Mutation_p.L596M	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	596	Cadherin 6.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTATGTCCAGACCTTCTGGA	0.547													13	35					7.03913e-09	1.12209e-08	1	0	T	95164106	G	T	95164106	3	4	339	1	0	0	0	0	1	0	0	0	3131	933	33	2	736	2	CDH17	8	95164106	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	6798092	95164106	51199916	393	63401											
GDF6	392255	broad.mit.edu	37	chr8	97172817	97172817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttggtggaacccagctcgGcggacgacgaggaggatgag	9	5	17	10	4	0	1	0	1	0	0	1	7	0	5	2	6	2	1	2	6	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:97172817G>A	ENST00000287020.5	-	1	203	c.104C>T	c.(103-105)gCc>gTc	p.A35V		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	35					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					ACCCAGCTCGGCGGACGACGA	0.642													5	66					0	0	0	0	A	97172817	G	A	97172817	3	1	339	1	0	0	0	0	1	0	0	0	6368	1203	42	4	1271	4	GDF6	8	97172817	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2008711	97172817	49191205	394	63402											
PTDSS1	9791	broad.mit.edu	37	chr8	97318726	97318726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttgtgttccaagccagtCatccattaagttggggtaga	9	14	10	8	0	2	1	1	0	1	1	4	1	4	1	3	2	1	3	3	2	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:97318726C>G	ENST00000517309.1	+	8	1275	c.949C>G	c.(949-951)Cat>Gat	p.H317D	PTDSS1_ENST00000522072.1_Missense_Mutation_p.H114D|PTDSS1_ENST00000455950.2_Missense_Mutation_p.H171D	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	317					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CCAAGCCAGTCATCCATTAAG	0.413													11	76					0	0	0	0	G	97318726	C	G	97318726	3	3	339	1	0	0	0	0	1	0	0	0	12815	826	29	2	979	2	PTDSS1	8	97318726	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	145909	97318726	49045296	395	63403											
EIF3E	3646	broad.mit.edu	37	chr8	109215287	109215287	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctaaaggaaaggcttttGgtcttttcaatcacttgctg	9	16	8	8	0	4	0	2	0	2	0	4	1	4	1	0	3	1	2	0	3	4	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:109215287G>T	ENST00000220849.5	-	12	1286	c.1224C>A	c.(1222-1224)acC>acA	p.T408T	EIF3E_ENST00000519030.1_Silent_p.T315T	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	408	Sufficient for interaction with MCM7.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AAAGGCTTTTGGTCTTTTCAA	0.388													7	61					8.12818e-05	0.000103873	1	0	T	109215287	G	T	109215287	2	4	339	1	0	0	0	0	0	0	0	1	5053	1335	47	4		4	EIF3E	8	109215287	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	11896561	109215287	37148735	396	63404											
KCNV1	27012	broad.mit.edu	37	chr8	110980738	110980738	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcaaagtattctacagttGaaaatatagagattcccacg	16	10	7	8	1	1	2	0	1	1	1	2	3	2	2	1	0	2	3	1	0	7	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:110980738G>C	ENST00000524391.1	-	4	2114	c.1082C>G	c.(1081-1083)tCa>tGa	p.S361*	KCNV1_ENST00000297404.1_Nonsense_Mutation_p.S361*			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	361						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTCTACAGTTGAAAATATAGA	0.478													6	52					0	0	0	0	C	110980738	G	C	110980738	4	2	339	1	0	0	0	0	0	1	0	0	8147	1294	45	2	424	2	KCNV1	8	110980738	Nonsense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1765451	110980738	35383284	397	63405											
CSMD3	114788	broad.mit.edu	37	chr8	113293531	113293531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaatgttgtgccatcaattCggaagactttcccattggct	11	13	8	9	1	1	1	1	0	0	1	3	2	2	2	2	2	1	2	2	2	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:113293531C>T	ENST00000297405.5	-	59	9624	c.9380G>A	c.(9379-9381)cGa>cAa	p.R3127Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3087Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3057Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2958Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3127	Sushi 23.					integral to membrane|plasma membrane		p.R3087L(1)|p.R3127L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCCATCAATTCGGAAGACTTT	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	33					0	0	0	0	T	113293531	C	T	113293531	3	4	339	1	0	0	0	0	1	0	0	0	3978	884	31	1	1795	1	CSMD3	8	113293531	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2312793	113293531	33070491	398	63406											
TAF2	6873	broad.mit.edu	37	chr8	120831748	120831748	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcagttccacaaatcccTgtaaagatagagaataacaa	18	9	6	8	0	1	2	1	0	0	2	3	3	3	2	2	0	1	2	2	0	8	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:120831748T>G	ENST00000378164.2	-	3	437		c.e3-2			NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CACAAATCCCTGTAAAGATAG	0.313													8	74					0	0	0	0	G	120831748	T	G	120831748	5	3	339	1	0	0	0	0	0	0	1	0	15615	1594	55	5	3558	5	TAF2	8	120831748	Splice_Site	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	7538217	120831748	25532274	399	63407											
LRRC6	23639	broad.mit.edu	37	chr8	133584730	133584730	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctccatgtgcttgcttcTataacaacaaaaaaagacaa	16	12	4	9	0	2	1	0	0	2	1	3	1	2	1	1	0	4	2	1	0	7	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:133584730T>A	ENST00000519595.1	-	12	1325		c.e12-2		LRRC6_ENST00000518642.1_Splice_Site|LRRC6_ENST00000250173.1_Splice_Site			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6							cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGCTTGCTTCTATAACAACAA	0.373													17	58					0	0	0	0	A	133584730	T	A	133584730	5	1	339	1	0	0	0	0	0	0	1	0	9080	1536	53	5	179	5	LRRC6	8	133584730	Splice_Site	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	12752982	133584730	12779292	400	63408											
LRRC6	23639	broad.mit.edu	37	chr8	133673704	133673704	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaactaagtactgaaacttAccaattttcccaataagatt	17	12	4	8	0	0	3	0	1	0	2	1	3	1	3	2	0	4	1	2	0	8	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:133673704A>T	ENST00000519595.1	-	2	277		c.e2+1		LRRC6_ENST00000520446.1_Splice_Site|LRRC6_ENST00000518642.1_Splice_Site|LRRC6_ENST00000250173.1_Splice_Site			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6							cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACTGAAACTTACCAATTTTCC	0.318													5	19					0	0	0	0	T	133673704	A	T	133673704	5	4	339	1	0	0	0	0	0	0	1	0	9080	405	14	5	1264	5	LRRC6	8	133673704	Splice_Site	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	88974	133673704	12690318	401	63409											
LRRC6	23639	broad.mit.edu	37	chr8	133673835	133673835	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagggaaaaaatgacacagtCgttgtgttcagcattccgtc	12	10	10	9	2	1	1	1	1	0	0	4	2	2	2	1	1	1	3	1	1	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:133673835C>G	ENST00000519595.1	-	2	147	c.49G>C	c.(49-51)Gac>Cac	p.D17H	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Missense_Mutation_p.D17H|LRRC6_ENST00000250173.1_Missense_Mutation_p.D17H			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	17						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATGACACAGTCGTTGTGTTCA	0.363													6	27					0	0	0	0	G	133673835	C	G	133673835	3	3	339	1	0	0	0	0	1	0	0	0	9080	884	31	3	1395	3	LRRC6	8	133673835	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	131	133673835	12690187	402	63410											
TMEM71	137835	broad.mit.edu	37	chr8	133759256	133759256	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttgtcttcacttggagaaGagttgatgtcaccaaagata	13	12	10	6	0	3	4	2	1	1	3	3	5	3	4	1	1	0	2	1	1	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:133759256G>C	ENST00000356838.3	-	5	504	c.362C>G	c.(361-363)tCt>tGt	p.S121C	TMEM71_ENST00000523829.1_Missense_Mutation_p.S140C|TMEM71_ENST00000377901.4_Missense_Mutation_p.S140C	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	140						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ACTTGGAGAAGAGTTGATGTC	0.423													6	35					0	0	0	0	C	133759256	G	C	133759256	3	2	339	1	0	0	0	0	1	0	0	0	16294	942	33	2	492	2	TMEM71	8	133759256	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	85421	133759256	12604766	403	63411											
FAM135B	51059	broad.mit.edu	37	chr8	139151264	139151264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttggtagaggaaacatttgCgcaaatcagcattatccctg	12	11	10	8	1	1	1	1	0	0	1	2	2	2	2	1	2	3	4	1	2	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:139151264C>A	ENST00000395297.1	-	18	4036	c.3866G>T	c.(3865-3867)cGc>cTc	p.R1289L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1289										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAACATTTGCGCAAATCAGC	0.438										HNSCC(54;0.14)			10	27					0.000673444	0.000808663	1	0	A	139151264	C	A	139151264	3	1	339	1	0	0	0	0	1	0	0	0	5490	768	27	3	366	3	FAM135B	8	139151264	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	5392008	139151264	7212758	404	63412											
FAM135B	51059	broad.mit.edu	37	chr8	139153565	139153565	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggaccgatcggatgatGatgttgccaagagaatggcc	11	8	15	7	2	0	4	0	3	0	1	1	8	0	6	3	3	1	1	3	3	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:139153565G>T	ENST00000395297.1	-	17	3836	c.3666C>A	c.(3664-3666)atC>atA	p.I1222I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1222										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATCGGATGATGATGTTGCCAA	0.552										HNSCC(54;0.14)			5	66					0.014758	0.0159053	1	0	T	139153565	G	T	139153565	2	4	339	1	0	0	0	0	0	0	0	1	5490	1280	45	2		2	FAM135B	8	139153565	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2301	139153565	7210457	405	63413											
CYP11B1	1584	broad.mit.edu	37	chr8	143957153	143957153	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtctccttgagggccgcacGcagcaagggcagctcggtgg	6	6	17	12	3	1	1	0	1	1	0	3	1	1	1	2	5	2	5	2	5	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:143957153G>C	ENST00000292427.4	-	6	1128	c.1096C>G	c.(1096-1098)Cgt>Ggt	p.R366G	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R437G|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R366G	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	366					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.R366C(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGGGCCGCACGCAGCAAGGGC	0.692									Familial Hyperaldosteronism type I				7	74					0	0	0	0	C	143957153	G	C	143957153	3	2	339	1	0	0	0	0	1	0	0	0	4177	1087	38	3	431	3	CYP11B1	8	143957153	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4803588	143957153	2406869	406	63414											
EPPK1	83481	broad.mit.edu	37	chr8	144942066	144942066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcagcaaacctccccaCgcgcatttttgcagttctgg	7	11	9	14	2	2	0	1	0	1	0	3	0	3	0	3	2	3	4	3	2	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:144942066C>A	ENST00000525985.1	-	2	5427	c.5356G>T	c.(5356-5358)Gtg>Ttg	p.V1786L				P58107	EPIPL_HUMAN	epiplakin 1	1786						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.V1786M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AACCTCCCCACGCGCATTTTT	0.517													19	46					1.67942e-08	2.6632e-08	1	0	A	144942066	C	A	144942066	3	1	339	1	0	0	0	0	1	0	0	0	5228	536	19	3	1910	3	EPPK1	8	144942066	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	984913	144942066	1421956	407	63415											
PLEC	5339	broad.mit.edu	37	chr8	144994063	144994063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggctggcacaggggcaCggaggccgctgaaggacagc	8	3	18	12	3	0	1	0	1	0	0	0	3	0	3	1	7	1	5	1	7	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:144994063C>A	ENST00000322810.4	-	32	10506	c.10337G>T	c.(10336-10338)cGt>cTt	p.R3446L	PLEC_ENST00000527096.1_Missense_Mutation_p.R3332L|PLEC_ENST00000354589.3_Missense_Mutation_p.R3309L|PLEC_ENST00000398774.2_Missense_Mutation_p.R3277L|PLEC_ENST00000436759.2_Missense_Mutation_p.R3336L|PLEC_ENST00000354958.2_Missense_Mutation_p.R3287L|PLEC_ENST00000345136.3_Missense_Mutation_p.R3309L|PLEC_ENST00000357649.2_Missense_Mutation_p.R3313L|PLEC_ENST00000356346.3_Missense_Mutation_p.R3295L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3446	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACAGGGGCACGGAGGCCGCT	0.622													7	46					0.00198382	0.00229771	1	0	A	144994063	C	A	144994063	3	1	339	1	0	0	0	0	1	0	0	0	12124	536	19	3	3721	3	PLEC	8	144994063	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	51997	144994063	1369959	408	63416											
RECQL4	9401	broad.mit.edu	37	chr8	145742149	145742149	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccagggctggtccggcCtgggaggggaacaacagaac	9	3	17	12	2	0	1	0	0	0	1	1	3	1	3	3	7	3	1	3	7	3	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:145742149C>G	ENST00000428558.2	-	5	396		c.e5-1		RECQL4_ENST00000532237.1_Splice_Site	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4						DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGGTCCGGCCTGGGAGGGGA	0.602			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				7	18					0	0	0	0	G	145742149	C	G	145742149	5	3	339	1	0	0	0	0	0	0	1	0	13284	695	24	4	3341	4	RECQL4	8	145742149	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	748086	145742149	621873	409	63417											
DOCK8	81704	broad.mit.edu	37	chr9	286627	286627	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttgcagccctctttgcCggaggaagggtaaatagttt	9	12	12	8	1	1	0	0	0	1	0	1	3	1	2	2	3	3	3	2	3	4	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:286627C>A	ENST00000432829.2	+	3	435	c.119C>A	c.(118-120)cCg>cAg	p.P40Q	DOCK8_ENST00000453981.1_Missense_Mutation_p.P108Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.P40Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	108					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCCTCTTTGCCGGAGGAAGGG	0.468													3	26					0.115264	0.120258	1	0	A	286627	C	A	286627	3	1	339	1	0	0	0	0	1	0	0	0	4729	652	23	3	333	3	DOCK8	9	286627	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08		286627	140926804	410	63418											
PTPRD	5789	broad.mit.edu	37	chr9	8633371	8633371	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctcccacattatttgaggCcacacattcataaatggcct	11	13	5	12	0	2	1	1	1	1	0	3	1	2	1	3	2	0	0	3	2	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:8633371C>A	ENST00000381196.4	-	11	841	c.298G>T	c.(298-300)Gcc>Tcc	p.A100S	PTPRD_ENST00000397617.3_Missense_Mutation_p.A100S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A100S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A100S|PTPRD_ENST00000397606.3_Missense_Mutation_p.A100S|PTPRD_ENST00000463477.1_Missense_Mutation_p.A100S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A100S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A100S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A100S|PTPRD_ENST00000540109.1_Missense_Mutation_p.A100S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A100S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A100S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	100	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTATTTGAGGCCACACATTCA	0.433										TSP Lung(15;0.13)			6	65					0.00116845	0.00137597	1	0	A	8633371	C	A	8633371	3	1	339	1	0	0	0	0	1	0	0	0	12881	739	26	4	5640	4	PTPRD	9	8633371	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	8346744	8633371	132580060	411	63419											
FREM1	158326	broad.mit.edu	37	chr9	14805060	14805060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccatctgtgacgtacaccGtgaactggtcggcagttggt	7	11	12	11	3	1	2	0	2	1	0	3	2	2	2	2	3	2	3	2	3	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:14805060G>T	ENST00000380881.4	-	20	4183	c.3368C>A	c.(3367-3369)aCg>aAg	p.T1123K	FREM1_ENST00000422223.2_Missense_Mutation_p.T1122K|FREM1_ENST00000380880.3_Missense_Mutation_p.T1122K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1122					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GACGTACACCGTGAACTGGTC	0.433													27	37					6.36457e-07	9.46924e-07	1	0	T	14805060	G	T	14805060	3	4	339	1	0	0	0	0	1	0	0	0	6092	1145	40	3	3300	3	FREM1	9	14805060	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	6171689	14805060	126408371	412	63420											
FREM1	158326	broad.mit.edu	37	chr9	14857642	14857642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggatccagatgctgataaCgaaggcccatcagcaggaac	13	5	13	10	1	1	2	1	1	0	1	2	5	2	4	2	4	4	2	2	4	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:14857642C>A	ENST00000380881.4	-	6	1552	c.737G>T	c.(736-738)cGt>cTt	p.R246L	FREM1_ENST00000422223.2_Missense_Mutation_p.R246L|FREM1_ENST00000380880.3_Missense_Mutation_p.R246L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	246					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGCTGATAACGAAGGCCCAT	0.468													8	38					0.00307968	0.00353564	1	0	A	14857642	C	A	14857642	3	1	339	1	0	0	0	0	1	0	0	0	6092	536	19	3	5984	3	FREM1	9	14857642	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	52582	14857642	126355789	413	63421											
PSIP1	11168	broad.mit.edu	37	chr9	15468795	15468795	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaaacttgttatacaacAttgtagacttttccatgatt	12	18	4	7	0	1	2	0	1	1	1	2	2	2	2	1	0	3	2	1	0	6	9			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:15468795A>T	ENST00000380733.4	-	14	1596	c.1253T>A	c.(1252-1254)aTg>aAg	p.M418K	PSIP1_ENST00000380738.4_Missense_Mutation_p.M418K			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	418					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTTATACAACATTGTAGACTT	0.343													8	51					0	0	0	0	T	15468795	A	T	15468795	3	4	339	1	0	0	0	0	1	0	0	0	12742	217	8	5	351	5	PSIP1	9	15468795	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	611153	15468795	125744636	414	63422											
CDKN2A	1029	broad.mit.edu	37	chr9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtccacgggcagacggccCcaggcatcgcgcacgtccag	8	3	14	16	5	0	1	0	0	0	1	3	1	2	1	4	4	0	3	4	4	0	0	rs121913389		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	17					0	0	0	0	T	21971028	C	T	21971028	4	4	339	1	0	0	0	0	0	1	0	0	3190	624	22	4	148	4	CDKN2A	9	21971028	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	6502233	21971028	119242403	415	63423											
CDKN2A	1029	broad.mit.edu	37	chr9	21974724	21974724	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggtgcgttgggcagcgcccCcgcctccagcagcgcccgca	4	4	14	19	6	0	0	0	0	0	0	1	0	1	0	5	2	4	4	5	2	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:21974724C>A	ENST00000304494.5	-	1	373	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W	CDKN2A_ENST00000498124.1_Missense_Mutation_p.G35W|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.G35W|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.G35W|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	35			G -> A (in CMM2; also found in a biliary tract tumor and a patient with uveal melanoma; partial loss of CDK4 binding).|G -> E (in CMM2).|G -> V (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.G35R(2)|p.G35fs*13(1)|p.0(1)|p.V28_V51del(1)|p.E33fs*8(1)|p.A36fs*8(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCAGCGCCCCCGCCTCCAGC	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			16	56					1.5739e-10	2.60419e-10	1	0	A	21974724	C	A	21974724	3	1	339	1	0	0	0	0	1	0	0	0	3190	623	22	4	580	4	CDKN2A	9	21974724	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3696	21974724	119238707	416	63424											
TAF1L	138474	broad.mit.edu	37	chr9	32635060	32635060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcagacacacaggtaataGcatcttggtccttatccttc	10	14	6	11	0	2	1	1	0	1	1	5	1	4	1	2	2	1	2	2	2	3	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:32635060G>A	ENST00000242310.4	-	1	607	c.518C>T	c.(517-519)gCt>gTt	p.A173V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	173					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACAGGTAATAGCATCTTGGTC	0.463													17	44					0	0	0	0	A	32635060	G	A	32635060	3	1	339	1	0	0	0	0	1	0	0	0	15614	971	34	4	4966	4	TAF1L	9	32635060	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	10660336	32635060	108578371	417	63425											
FRMPD1	22844	broad.mit.edu	37	chr9	37740133	37740133	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggtggactgcgtactCgaacctctctctgacaggcg	7	10	12	12	3	3	2	0	2	3	0	5	4	3	3	1	3	3	1	1	3	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:37740133C>A	ENST00000539465.1	+	15	2201	c.1608C>A	c.(1606-1608)ctC>ctA	p.L536L	FRMPD1_ENST00000541302.1_Silent_p.L405L|FRMPD1_ENST00000536622.1_Silent_p.L358L|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.L536L			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	536						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACTGCGTACTCGAACCTCTCT	0.557													6	67					0.00116845	0.00137597	1	0	A	37740133	C	A	37740133	2	1	339	1	0	0	0	0	0	0	0	1	6105	871	31	3		3	FRMPD1	9	37740133	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	5105073	37740133	103473298	418	63426											
ANKRD20A1	84210	broad.mit.edu	37	chr9	67951993	67951993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcatgaaaaaggaaacaGaatagtcaatggacaaggag	19	6	11	5	1	1	2	1	1	0	1	2	5	1	5	0	3	1	1	0	3	7	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:67951993G>T	ENST00000377477.2	+	9	1068	c.956G>T	c.(955-957)aGa>aTa	p.R319I		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AAAGGAAACAGAATAGTCAAT	0.423													23	58					4.59853e-10	7.55414e-10	1	0	T	67951993	G	T	67951993	3	4	339	1	0	0	0	0	1	0	0	0	648	942	33	2	990	2	ANKRD20A1	9	67951993	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	30211860	67951993	73261438	419	63427											
FAM122A	116224	broad.mit.edu	37	chr9	71395894	71395894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgactctcctgtgtcacctGcccaagcggcttctccattt	5	12	7	17	2	3	0	1	0	2	0	5	1	3	0	5	1	2	1	5	1	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:71395894G>T	ENST00000394264.3	+	1	931	c.814G>T	c.(814-816)Gcc>Tcc	p.A272S	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	272										endometrium(1)|lung(2)	3						TGTGTCACCTGCCCAAGCGGC	0.463													37	142					1.60099e-16	2.70777e-16	1	0	T	71395894	G	T	71395894	3	4	339	1	0	0	0	0	1	0	0	0	5460	1319	46	4	816	4	FAM122A	9	71395894	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3443901	71395894	69817537	420	63428											
MAMDC2	256691	broad.mit.edu	37	chr9	72758537	72758537	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attggaaggctctatgggccCtccctaccaggaaacttgca	10	9	10	12	0	1	0	0	0	1	0	2	2	2	2	3	4	3	2	3	4	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:72758537C>A	ENST00000377182.4	+	9	1823	c.1206C>A	c.(1204-1206)ccC>ccA	p.P402P	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	402	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCTATGGGCCCTCCCTACCAG	0.423													24	55					2.32416e-17	3.94546e-17	1	0	A	72758537	C	A	72758537	2	1	339	1	0	0	0	0	0	0	0	1	9272	668	24	4		4	MAMDC2	9	72758537	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1362643	72758537	68454894	421	63429											
GOLM1	51280	broad.mit.edu	37	chr9	88655709	88655709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaagctacagcttcattcCcctttttggtgacctcttct	6	16	7	12	0	3	1	1	1	2	0	4	2	4	2	3	2	3	2	3	2	2	6	rs144749820	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:88655709C>A	ENST00000388712.3	-	6	710	c.542G>T	c.(541-543)gGg>gTg	p.G181V	GOLM1_ENST00000388711.3_Missense_Mutation_p.G181V|GOLM1_ENST00000257504.6_5'UTR	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	181						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						AGCTTCATTCCCCTTTTTGGT	0.468													10	51					2.17888e-05	2.94922e-05	1	0	A	88655709	C	A	88655709	3	1	339	1	0	0	0	0	1	0	0	0	6615	623	22	4	683	4	GOLM1	9	88655709	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	15897172	88655709	52557722	422	63430											
SVEP1	79987	broad.mit.edu	37	chr9	113170823	113170823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggggccttgcaggacatGcccttctttacaggaaaatg	11	9	12	9	0	1	1	0	0	1	1	1	3	1	3	2	4	3	1	2	4	3	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:113170823G>A	ENST00000401783.2	-	38	7393	c.7057C>T	c.(7057-7059)Cat>Tat	p.H2353Y	SVEP1_ENST00000374469.1_Missense_Mutation_p.H2330Y|SVEP1_ENST00000297826.5_Missense_Mutation_p.H279Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2353	Sushi 16.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCAGGACATGCCCTTCTTTA	0.512													8	32					0	0	0	0	A	113170823	G	A	113170823	3	1	339	1	0	0	0	0	1	0	0	0	15510	1319	46	4	3702	4	SVEP1	9	113170823	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	24515114	113170823	28042608	423	63431											
CDC26	246184	broad.mit.edu	37	chr9	116029554	116029554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatccatctctaaaattcaaGacttccaaattgagatgaac	17	11	4	9	0	2	3	1	2	1	2	5	4	4	3	2	0	1	0	2	0	6	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:116029554G>A	ENST00000374206.3	-	4	605	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F	CDC26_ENST00000490408.1_Intron	NM_139286.3	NP_644815.1	Q8NHZ8	CDC26_HUMAN	cell division cycle 26	83					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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											TAAAATTCAAGACTTCCAAAT	0.418													9	61					0	0	0	0	A	116029554	G	A	116029554	3	1	339	1	0	0	0	0	1	0	0	0	3094	942	33	2	14	2	CDC26	9	116029554	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2858731	116029554	25183877	424	63432											
RGS3	5998	broad.mit.edu	37	chr9	116356334	116356334	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggaatttttttttccGctccccctcctggtccctcc	5	14	6	16	1	0	1	0	0	0	1	5	2	5	2	6	2	0	1	6	2	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:116356334G>C	ENST00000462403.1	+	1	569	c.135G>C	c.(133-135)ccG>ccC	p.P45P	RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000374134.3_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	208					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TTTTTTTTCCGCTCCCCCTCC	0.622													24	127					0	0	0	0	C	116356334	G	C	116356334	2	2	339	1	0	0	0	0	0	0	0	1	13389	1074	38	3		3	RGS3	9	116356334	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	326780	116356334	24857097	425	63433											
OR5C1	392391	broad.mit.edu	37	chr9	125551232	125551232	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgaactcagagaacctcacCcgggccgcggttgcccctgc	8	6	11	16	3	2	2	2	1	0	1	2	3	2	2	5	2	4	1	5	2	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:125551232C>A	ENST00000373680.2	+	1	83	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						AGAACCTCACCCGGGCCGCGG	0.587													5	51					0.000602214	0.000724082	1	0	A	125551232	C	A	125551232	2	1	339	1	0	0	0	0	0	0	0	1	11224	610	22	4		4	OR5C1	9	125551232	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	9194898	125551232	15662199	426	63434											
NR6A1	2649	broad.mit.edu	37	chr9	127316734	127316734	+	Frame_Shift_Del	DEL	C	C	-																															acccgtttgttgcaaatgctCcgcttgaaaaaccctttgca																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:127316734delC	ENST00000487099.2	-	3	415	c.258delG	c.(256-258)cgfs	p.R86fs	NR6A1_ENST00000344523.4_Frame_Shift_Del_p.R86fs|NR6A1_ENST00000416460.2_Frame_Shift_Del_p.R82fs|NR6A1_ENST00000373584.3_Frame_Shift_Del_p.R82fs	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	86					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TGCAAATGCTCCGCTTGAAAA	0.522													28	43	---	---	---	---					-	127316734	C	-	127316734	7	5	339	1	0	1	0	1	0	0	0	0	10708	842	30	0	1216	0	NR6A1	9	127316734	Frame_Shift_Del	DEL	C	TCGA-CV-A45Z-01A-21D-A25D-08	1765502	127316734	13896697	427	63435											
GOLGA1	2800	broad.mit.edu	37	chr9	127684031	127684031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcgttgagtagtgtctCtgcaattcttctagcttctg	6	16	9	10	1	4	1	0	1	4	0	6	1	5	1	1	0	3	4	1	0	3	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:127684031C>A	ENST00000373555.4	-	9	1035	c.702G>T	c.(700-702)caG>caT	p.Q234H		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	234						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AGTAGTGTCTCTGCAATTCTT	0.493													13	135					2.27111e-07	3.45194e-07	1	0	A	127684031	C	A	127684031	3	1	339	1	0	0	0	0	1	0	0	0	6602	912	32	2	1661	2	GOLGA1	9	127684031	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	367297	127684031	13529400	428	63436											
ZBTB43	23099	broad.mit.edu	37	chr9	129595836	129595838	+	In_Frame_Del	DEL	AAT	AAT	-																															tcgcagcaggttacagtgagAatattgaaatggtaacaggg																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:129595836_129595838delAAT	ENST00000373464.4	+	3	1312_1314	c.1048_1050delAAT	c.(1048-1050)del	p.N350del	ZBTB43_ENST00000449886.1_In_Frame_Del_p.N350del|ZBTB43_ENST00000373457.1_In_Frame_Del_p.N350del	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TTACAGTGAGAATATTGAAATGG	0.463													11	57	---	---	---	---					-	129595838	AAT	-	129595836	7	5	339	1	0	1	0	1	0	0	0	0	17639	246	9	0	1050	0	ZBTB43	9	129595836	In_Frame_Del	DEL	AAT	TCGA-CV-A45Z-01A-21D-A25D-08	1911805	129595836	11617595	429	63437											
STXBP1	6812	broad.mit.edu	37	chr9	130413919	130413919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaagaaggtcaagaagaaGggggaatggaaggtgagtag	18	5	17	1	0	1	4	1	1	0	3	1	6	1	6	0	5	0	1	0	5	9	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:130413919G>T	ENST00000373302.3	+	2	214	c.75G>T	c.(73-75)aaG>aaT	p.K25N	STXBP1_ENST00000373299.1_Missense_Mutation_p.K25N	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	25					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCAAGAAGAAGGGGGAATGGA	0.403													5	19					1.23904e-05	1.68709e-05	1	0	T	130413919	G	T	130413919	3	4	339	1	0	0	0	0	1	0	0	0	15442	991	35	4	81	4	STXBP1	9	130413919	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	818083	130413919	10799512	430	63438											
COL5A1	1289	broad.mit.edu	37	chr9	137702117	137702117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagggagagatcggggagcCggggcagaaaggaagcaagg	13	2	20	6	2	0	2	0	0	0	2	1	6	0	5	1	7	2	2	1	7	4	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:137702117C>A	ENST00000371817.3	+	44	3905	c.3491C>A	c.(3490-3492)cCg>cAg	p.P1164Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1164	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATCGGGGAGCCGGGGCAGAAA	0.592													8	51					0.00307968	0.00353564	1	0	A	137702117	C	A	137702117	3	1	339	1	0	0	0	0	1	0	0	0	3726	652	23	3	3665	3	COL5A1	9	137702117	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	7288198	137702117	3511314	431	63439											
CARD9	64170	broad.mit.edu	37	chr9	139264312	139264312	+	Nonsense_Mutation	SNP	C	C	A																															gcactgcagctcgaacatctCcttctcctccatgcactgca																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:139264312C>A	ENST00000371732.5	-	7	1132	c.967G>T	c.(967-969)Gag>Tag	p.E323*	CARD9_ENST00000371734.3_Nonsense_Mutation_p.E323*|CARD9_ENST00000315908.7_Nonsense_Mutation_p.E323*	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	323					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TCGAACATCTCCTTCTCCTCC	0.622													3	19					6.4e-05	8.32002e-05	1	0	A	139264312	C	A	139264312	4	1	339	1	0	0	0	0	0	1	0	0	2677	864	30	2	724	2	CARD9	9	139264312	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1562195	139264312	1949119	432	63440	759	2									
CARD9	64170	broad.mit.edu	37	chr9	139264313	139264313	+	Missense_Mutation	SNP	C	C	A																															cactgcagctcgaacatctcCttctcctccatgcactgcag																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:139264313C>A	ENST00000371732.5	-	7	1131	c.966G>T	c.(964-966)aaG>aaT	p.K322N	CARD9_ENST00000371734.3_Missense_Mutation_p.K322N|CARD9_ENST00000315908.7_Missense_Mutation_p.K322N	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	322					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CGAACATCTCCTTCTCCTCCA	0.627													3	19					6.4e-05	8.32002e-05	1	0	A	139264313	C	A	139264313	3	1	339	1	0	0	0	0	1	0	0	0	2677	680	24	4	725	4	CARD9	9	139264313	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1	139264313	1949118	433	63441	759	2									
LARP4B	23185	broad.mit.edu	37	chr10	863665	863665	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acatgcaatatatcccttacCctttctttggatggtcctat	9	16	5	11	0	1	0	0	0	1	0	3	1	3	1	3	2	2	1	3	2	5	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:863665C>A	ENST00000316157.3	-	14	1735	c.1695_splice	c.e14+1	p.R565_splice		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	565							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TATCCCTTACCCTTTCTTTGG	0.438													16	145					6.31663e-08	9.82944e-08	1	0	A	863665	C	A	863665	5	1	339	1	0	0	0	0	0	0	1	0	8684	637	22	4	537	4	LARP4B	10	863665	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08		863665	134671082	434	63442											
ADARB2	105	broad.mit.edu	37	chr10	1230936	1230936	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgacccagttcatgctgaaGgggggcgacttccccggctg	7	7	14	13	3	1	1	1	1	0	0	2	3	2	1	3	4	1	3	3	4	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:1230936G>C	ENST00000381312.1	-	9	2233	c.1908C>G	c.(1906-1908)ccC>ccG	p.P636P	ADARB2_ENST00000381310.3_Silent_p.P145P|ADARB2_ENST00000381305.1_Silent_p.P38P	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	636	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCATGCTGAAGGGGGGCGACT	0.677													5	21					0	0	0	0	C	1230936	G	C	1230936	2	2	339	1	0	0	0	0	0	0	0	1	283	987	35	4		4	ADARB2	10	1230936	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	367271	1230936	134303811	435	63443											
SFMBT2	57713	broad.mit.edu	37	chr10	7214495	7214495	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtccacggcagaagaccTccgtttcttctgcacgaaaa	12	8	9	12	3	2	2	0	0	2	2	4	4	4	2	3	1	1	3	3	1	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:7214495T>G	ENST00000361972.4	-	18	2203	c.2113A>C	c.(2113-2115)Agg>Cgg	p.R705R	SFMBT2_ENST00000397167.1_Silent_p.R705R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	705					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCAGAAGACCTCCGTTTCTTC	0.642													6	27					0	0	0	0	G	7214495	T	G	7214495	2	3	339	1	0	0	0	0	0	0	0	1	14245	1550	54	5		5	SFMBT2	10	7214495	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	5983559	7214495	128320252	436	63444											
BEND7	222389	broad.mit.edu	37	chr10	13523095	13523095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagatttaggcataaacacGtcaaagccttcagcaagttg	14	10	9	8	1	2	1	2	1	0	1	2	2	2	1	1	1	3	3	1	1	5	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:13523095G>T	ENST00000341083.3	-	6	1007	c.711C>A	c.(709-711)gaC>gaA	p.D237E	BEND7_ENST00000396900.2_Missense_Mutation_p.D289E|BEND7_ENST00000378605.3_Missense_Mutation_p.D250E|BEND7_ENST00000396898.2_Missense_Mutation_p.D302E	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	289							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GCATAAACACGTCAAAGCCTT	0.398													10	63					7.48243e-07	1.10426e-06	1	0	T	13523095	G	T	13523095	3	4	339	1	0	0	0	0	1	0	0	0	1407	1136	40	3	723	3	BEND7	10	13523095	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	6308600	13523095	122011652	437	63445											
FAM107B	83641	broad.mit.edu	37	chr10	14816434	14816434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgggtgctcgaatcttGccttttctctggagctcctt	4	16	10	11	1	2	0	0	0	2	0	5	2	3	1	2	2	4	3	2	2	1	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:14816434G>T	ENST00000181796.2	-	1	462	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCGAATCTTGCCTTTTCTCT	0.602													18	91					9.16793e-09	1.4589e-08	1	0	T	14816434	G	T	14816434	3	4	339	1	0	0	0	0	1	0	0	0	5431	1328	46	4	711	4	FAM107B	10	14816434	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1293339	14816434	120718313	438	63446											
CUBN	8029	broad.mit.edu	37	chr10	16893281	16893281	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctagtacttgctgcctccaGagcaaatgtattgaaggtga	11	11	10	9	0	0	3	0	2	0	1	1	3	1	3	3	1	4	4	3	1	5	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:16893281G>C	ENST00000377833.4	-	60	9681	c.9616C>G	c.(9616-9618)Ctg>Gtg	p.L3206V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3206	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTGCCTCCAGAGCAAATGTA	0.343													5	43					0	0	0	0	C	16893281	G	C	16893281	3	2	339	1	0	0	0	0	1	0	0	0	4083	933	33	2	1287	2	CUBN	10	16893281	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2076847	16893281	118641466	439	63447											
CUBN	8029	broad.mit.edu	37	chr10	16957976	16957976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtatggaagtgttggatGtccaatgctttcaacaacac	11	13	9	8	0	2	0	1	0	1	0	3	2	3	2	1	2	3	3	1	2	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:16957976G>A	ENST00000377833.4	-	46	7119	c.7054C>T	c.(7054-7056)Cat>Tat	p.H2352Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2352	CUB 17.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTGTTGGATGTCCAATGCTT	0.408													7	70					0	0	0	0	A	16957976	G	A	16957976	3	1	339	1	0	0	0	0	1	0	0	0	4083	1377	48	4	3905	4	CUBN	10	16957976	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	64695	16957976	118576771	440	63448											
VIM	7431	broad.mit.edu	37	chr10	17277251	17277251	+	Silent	SNP	C	C	A																															taccaagacactattggccgCctgcaggatgagattcagaa																								rs116696668	by1000genomes	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:17277251C>A	ENST00000544301.1	+	7	1505	c.1092C>A	c.(1090-1092)cgC>cgA	p.R364R	VIM_ENST00000224237.5_Silent_p.R364R	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	364	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTATTGGCCGCCTGCAGGATG	0.483													10	61					1.76689e-08	2.78743e-08	1	0	A	17277251	C	A	17277251	2	1	339	1	0	0	0	0	0	0	0	1	17262	726	26	4		4	VIM	10	17277251	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	319275	17277251	118257496	441	63449	760	2									
VIM	7431	broad.mit.edu	37	chr10	17277252	17277252	+	Silent	SNP	C	C	T																															accaagacactattggccgcCtgcaggatgagattcagaat																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:17277252C>T	ENST00000544301.1	+	7	1506	c.1093C>T	c.(1093-1095)Ctg>Ttg	p.L365L	VIM_ENST00000224237.5_Silent_p.L365L	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	365	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATTGGCCGCCTGCAGGATGA	0.488													10	63					0	0	0	0	T	17277252	C	T	17277252	2	4	339	1	0	0	0	0	0	0	0	1	17262	680	24	4		4	VIM	10	17277252	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1	17277252	118257495	442	63450	760	2									
ARL5B	221079	broad.mit.edu	37	chr10	18955536	18955536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatagtgggactggataatGcagggaaaaccaccattctt	13	11	10	7	0	1	0	0	0	1	0	1	3	1	3	2	3	2	1	2	3	5	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:18955536G>T	ENST00000377275.3	+	2	312	c.79G>T	c.(79-81)Gca>Tca	p.A27S		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	27					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						ACTGGATAATGCAGGGAAAAC	0.303													4	44					0.014758	0.0159053	1	0	T	18955536	G	T	18955536	3	4	339	1	0	0	0	0	1	0	0	0	944	1319	46	4	85	4	ARL5B	10	18955536	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1678284	18955536	116579211	443	63451											
DNAJC1	64215	broad.mit.edu	37	chr10	22209838	22209838	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttttctcacccgcctgtaGtagaatacaggctgtcgcca	9	12	8	12	2	1	1	1	0	1	1	3	1	1	1	3	1	1	3	3	1	4	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:22209838G>A	ENST00000376980.3	-	4	716	c.426C>T	c.(424-426)taC>taT	p.Y142Y	DNAJC1_ENST00000376946.1_3'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	142					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CCCGCCTGTAGTAGAATACAG	0.403													5	40					0	0	0	0	A	22209838	G	A	22209838	2	1	339	1	0	0	0	0	0	0	0	1	4664	1024	36	4		4	DNAJC1	10	22209838	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3254302	22209838	113324909	444	63452											
GPR158	57512	broad.mit.edu	37	chr10	25887832	25887832	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcttttgatttccaagactCcagttctcccagagagggca	10	11	9	11	0	1	3	0	1	1	2	4	4	3	3	3	1	1	3	3	1	1	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:25887832C>A	ENST00000376351.3	+	11	3636	c.3277C>A	c.(3277-3279)Cca>Aca	p.P1093T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1093						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTCCAAGACTCCAGTTCTCCC	0.522													8	66					5.18039e-06	7.32621e-06	1	0	A	25887832	C	A	25887832	3	1	339	1	0	0	0	0	1	0	0	0	6712	855	30	2	3319	2	GPR158	10	25887832	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3677994	25887832	109646915	445	63453											
WAC	51322	broad.mit.edu	37	chr10	28905190	28905190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaccacagaattcttctGcccgatccacgtgttcatta	9	14	6	12	2	3	1	1	0	2	1	4	2	4	1	3	0	2	2	3	0	3	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:28905190G>C	ENST00000375664.3	+	12	2119	c.1510G>C	c.(1510-1512)Gcc>Ccc	p.A504P	WAC_ENST00000347934.4_Missense_Mutation_p.A446P|WAC_ENST00000354911.4_Missense_Mutation_p.A549P|WAC_ENST00000375646.1_Missense_Mutation_p.A397P			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	549					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GAATTCTTCTGCCCGATCCAC	0.438													6	58					0	0	0	0	C	28905190	G	C	28905190	3	2	339	1	0	0	0	0	1	0	0	0	17343	1319	46	4	1691	4	WAC	10	28905190	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3017358	28905190	106629557	446	63454											
MARCH8	220972	broad.mit.edu	37	chr10	45956740	45956740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgcagagctcgcagcagCgcgtgtcggagctcttgatc	7	9	13	12	4	1	2	0	1	1	1	4	3	1	3	0	1	5	5	0	1	0	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:45956740C>G	ENST00000453424.2	-	6	1469	c.1208G>C	c.(1207-1209)cGc>cCc	p.R403P	MARCH8_ENST00000395769.2_Missense_Mutation_p.R121P|MARCH8_ENST00000395771.3_Missense_Mutation_p.R121P|MARCH8_ENST00000319836.3_Missense_Mutation_p.R121P|MARCH8_ENST00000476962.1_5'UTR			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	121						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						CTCGCAGCAGCGCGTGTCGGA	0.577													6	37					0	0	0	0	G	45956740	C	G	45956740	3	3	339	1	0	0	0	0	1	0	0	0	9376	768	27	3	525	3	MARCH8	10	45956740	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	17051550	45956740	89578007	447	63455											
FRMPD2	143162	broad.mit.edu	37	chr10	49381058	49381058	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggaaacagccgtgcgttCatctcccatgctgtcattag	10	10	9	12	2	3	0	2	0	1	0	4	1	3	1	2	1	4	2	2	1	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:49381058C>A	ENST00000374201.3	-	25	3456	c.3154G>T	c.(3154-3156)Gaa>Taa	p.E1052*	FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Nonsense_Mutation_p.E1027*|FRMPD2_ENST00000407470.4_Nonsense_Mutation_p.E1020*|FRMPD2_ENST00000474573.1_Nonsense_Mutation_p.E4*	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1052					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCCGTGCGTTCATCTCCCATG	0.502													11	59					0.010729	0.0117429	1	0	A	49381058	C	A	49381058	4	1	339	1	0	0	0	0	0	1	0	0	6106	835	29	2	795	2	FRMPD2	10	49381058	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3424318	49381058	86153689	448	63456											
C10orf71	118461	broad.mit.edu	37	chr10	50532551	50532551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctttgcaatagggatcCtgagcctggaggggctacag	9	8	16	8	0	0	1	0	1	0	0	1	4	1	3	2	5	3	3	2	5	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:50532551C>G	ENST00000374144.3	+	3	2249	c.1961C>G	c.(1960-1962)cCt>cGt	p.P654R	C10orf71_ENST00000323868.4_Missense_Mutation_p.P654R			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	654										endometrium(1)	1						AATAGGGATCCTGAGCCTGGA	0.572													6	11					0	0	0	0	G	50532551	C	G	50532551	3	3	339	1	0	0	0	0	1	0	0	0	1624	681	24	4	1963	4	C10orf71	10	50532551	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1151493	50532551	85002196	449	63457											
SLC18A3	6572	broad.mit.edu	37	chr10	50819260	50819260	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgtgccgctgctgatcggCctgggcgtcatgttcgcctc	3	10	14	14	5	1	1	1	1	0	0	4	2	1	1	3	2	2	3	3	2	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:50819260C>A	ENST00000374115.3	+	1	914	c.474C>A	c.(472-474)ggC>ggA	p.G158G	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	158					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGCTGATCGGCCTGGGCGTCA	0.647													9	49					3.09899e-07	4.66377e-07	1	0	A	50819260	C	A	50819260	2	1	339	1	0	0	0	0	0	0	0	1	14515	726	26	4		4	SLC18A3	10	50819260	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	286709	50819260	84715487	450	63458											
C10orf53	282966	broad.mit.edu	37	chr10	50916407	50916407	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgttgtctttgttctcagGcaagctcaccccaagtagtg	7	14	9	11	0	4	0	2	0	3	0	5	0	4	0	2	1	1	5	2	1	3	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:50916407G>T	ENST00000374112.3	+	3	230	c.217_splice	c.e3-1	p.G73_splice	C10orf53_ENST00000535836.1_Splice_Site_p.G73_splice	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	76										endometrium(1)|lung(6)	7		all_neural(218;0.107)				ttgttctcaggcaagctcacc	0.488													9	59					0.00621372	0.00701054	1	0	T	50916407	G	T	50916407	5	4	339	1	0	0	0	0	0	0	1	0	1616	1217	42	4	297	4	C10orf53	10	50916407	Splice_Site	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	97147	50916407	84618340	451	63459											
PCDH15	65217	broad.mit.edu	37	chr10	55626433	55626433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttgccgctcagtcccttcCcatagtcgtcagttgcaata	7	13	7	14	2	2	0	2	0	0	0	5	0	4	0	3	0	2	3	3	0	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:55626433C>T	ENST00000373965.2	-	28	4101	c.3707G>A	c.(3706-3708)gGg>gAg	p.G1236E	PCDH15_ENST00000437009.1_Missense_Mutation_p.G1158E|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1192E|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1207E|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1229E|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1236E|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1229E|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1229E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1229E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.G840E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1234E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1229	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGTCCCTTCCCATAGTCGTC	0.413										HNSCC(58;0.16)			5	39					0	0	0	0	T	55626433	C	T	55626433	3	4	339	1	0	0	0	0	1	0	0	0	11582	623	22	4	3828	4	PCDH15	10	55626433	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	4710026	55626433	79908314	452	63460											
PCDH15	65217	broad.mit.edu	37	chr10	55755479	55755479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcatccggagccaccatcCctttgtatattcgtttacta	8	14	6	13	2	0	0	0	0	0	0	3	1	2	1	4	1	3	3	4	1	4	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:55755479C>G	ENST00000373965.2	-	22	3213	c.2819G>C	c.(2818-2820)gGg>gCg	p.G940A	PCDH15_ENST00000437009.1_Missense_Mutation_p.G862A|PCDH15_ENST00000395432.2_Missense_Mutation_p.G896A|PCDH15_ENST00000373955.1_Missense_Mutation_p.G933A|PCDH15_ENST00000395433.1_Missense_Mutation_p.G911A|PCDH15_ENST00000395438.1_Missense_Mutation_p.G933A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G940A|PCDH15_ENST00000361849.3_Missense_Mutation_p.G933A|PCDH15_ENST00000395430.1_Missense_Mutation_p.G933A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G933A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.G544A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G938A	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	933	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCCACCATCCCTTTGTATAT	0.398										HNSCC(58;0.16)			8	41					0	0	0	0	G	55755479	C	G	55755479	3	3	339	1	0	0	0	0	1	0	0	0	11582	623	22	4	4740	4	PCDH15	10	55755479	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	129046	55755479	79779268	453	63461											
BICC1	80114	broad.mit.edu	37	chr10	60558836	60558836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttctgctataccacacCttatgattccatctactgcc	8	16	4	13	0	2	1	0	1	2	0	3	1	3	1	4	0	4	2	4	0	4	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:60558836C>A	ENST00000373886.3	+	12	1553	c.1549C>A	c.(1549-1551)Ctt>Att	p.L517I	BICC1_ENST00000263103.1_Missense_Mutation_p.L143I	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	517					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TATACCACACCTTATGATTCC	0.378													4	33					0.184627	0.188964	1	0	A	60558836	C	A	60558836	3	1	339	1	0	0	0	0	1	0	0	0	1432	681	24	4	1595	4	BICC1	10	60558836	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	4803357	60558836	74975911	454	63462											
C10orf107	219621	broad.mit.edu	37	chr10	63450371	63450371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggaagaaattgtgataGgaactgaggtaagtaattta	16	10	12	3	0	0	3	0	2	0	1	0	5	0	5	1	3	1	2	1	3	7	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:63450371G>A	ENST00000330194.2	+	4	585	c.280G>A	c.(280-282)Gga>Aga	p.G94R		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	94										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					AATTGTGATAGGAACTGAGGT	0.348													7	39					0	0	0	0	A	63450371	G	A	63450371	3	1	339	1	0	0	0	0	1	0	0	0	1591	1001	35	4	290	4	C10orf107	10	63450371	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2891535	63450371	72084376	455	63463											
CTNNA3	29119	broad.mit.edu	37	chr10	67829214	67829214	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgctcagcaatcttttCtttttctgcctcaggcagtt	7	17	6	11	0	5	0	2	0	3	0	5	0	5	0	1	1	4	4	1	1	2	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:67829214C>A	ENST00000433211.1	-	15	2185	c.2011G>T	c.(2011-2013)Gaa>Taa	p.E671*	CTNNA3_ENST00000373735.1_Nonsense_Mutation_p.E10*|CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.E671*	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	671					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GCAATCTTTTCTTTTTCTGCC	0.358													10	73					7.48243e-07	1.10426e-06	1	0	A	67829214	C	A	67829214	4	1	339	1	0	0	0	0	0	1	0	0	4046	922	32	2	692	2	CTNNA3	10	67829214	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	4378843	67829214	67705533	456	63464											
DNAJC12	56521	broad.mit.edu	37	chr10	69565540	69565540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacctctgacaacccagtgCattgactaaattaatgtaaa	15	12	5	9	0	1	2	0	2	1	0	1	2	1	2	2	0	3	2	2	0	7	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:69565540C>A	ENST00000225171.2	-	4	455	c.303G>T	c.(301-303)atG>atT	p.M101I	DNAJC12_ENST00000483798.2_Missense_Mutation_p.M131I	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	101					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						CAACCCAGTGCATTGACTAAA	0.323													6	71					2.0095e-06	2.90014e-06	1	0	A	69565540	C	A	69565540	3	1	339	1	0	0	0	0	1	0	0	0	4667	710	25	4	301	4	DNAJC12	10	69565540	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1736326	69565540	65969207	457	63465											
VCL	7414	broad.mit.edu	37	chr10	75854095	75854095	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacggccctgcagaacctGcagaccaaaaccaaccgggc	12	2	10	17	2	0	2	0	0	0	2	0	2	0	2	6	2	5	2	6	2	4	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:75854095G>T	ENST00000211998.4	+	11	1513	c.1419G>T	c.(1417-1419)ctG>ctT	p.L473L	VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Silent_p.L473L|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	473	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TGCAGAACCTGCAGACCAAAA	0.557													4	19					0.150653	0.155585	1	0	T	75854095	G	T	75854095	2	4	339	1	0	0	0	0	0	0	0	1	17235	1306	46	4		4	VCL	10	75854095	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	6288555	75854095	59680652	458	63466											
LDB3	11155	broad.mit.edu	37	chr10	88477873	88477873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattctttgccccgctgtGtgccaagtgcaacaccaaaa	11	9	8	13	1	1	0	0	0	1	0	1	0	1	0	4	0	4	3	4	0	5	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:88477873G>T	ENST00000429277.2	+	11	1989	c.1844G>T	c.(1843-1845)tGt>tTt	p.C615F	LDB3_ENST00000361373.4_Missense_Mutation_p.C610F|LDB3_ENST00000352360.5_Missense_Mutation_p.C353F|LDB3_ENST00000458213.2_Missense_Mutation_p.C500F|LDB3_ENST00000263066.6_Missense_Mutation_p.C500F	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	610	LIM zinc-binding 2.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCCCCGCTGTGTGCCAAGTGC	0.522													8	54					5.18039e-06	7.32621e-06	1	0	T	88477873	G	T	88477873	3	4	339	1	0	0	0	0	1	0	0	0	8750	1377	48	4	2203	4	LDB3	10	88477873	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	12623778	88477873	47056874	459	63467											
PLCE1	51196	broad.mit.edu	37	chr10	96018842	96018842	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaccgatctggctccgAgtcagccccactctacacca	9	7	7	18	2	3	0	1	0	2	0	4	2	4	0	5	1	4	2	5	1	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:96018842A>T	ENST00000260766.3	+	13	4383	c.3749A>T	c.(3748-3750)gAg>gTg	p.E1250V	PLCE1_ENST00000371380.2_Missense_Mutation_p.E1250V|PLCE1_ENST00000371375.1_Missense_Mutation_p.E942V|PLCE1_ENST00000371385.3_Missense_Mutation_p.E942V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1250					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCTGGCTCCGAGTCAGCCCCA	0.488													11	59					0	0	0	0	T	96018842	A	T	96018842	3	4	339	1	0	0	0	0	1	0	0	0	12106	304	11	5	4081	5	PLCE1	10	96018842	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	7540969	96018842	39515905	460	63468											
SLIT1	6585	broad.mit.edu	37	chr10	98923185	98923185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcaccacgttccactgctCcaatctggttctccatcagc	9	10	6	16	1	3	0	1	0	2	0	6	0	5	0	4	1	3	4	4	1	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:98923185C>A	ENST00000266058.4	-	3	538	c.293G>T	c.(292-294)gGa>gTa	p.G98V	SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G98V|SLIT1_ENST00000371041.3_Missense_Mutation_p.G98V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	98					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTCCACTGCTCCAATCTGGTT	0.617													21	171					8.10497e-08	1.25909e-07	1	0	A	98923185	C	A	98923185	3	1	339	1	0	0	0	0	1	0	0	0	14827	855	30	2	4451	2	SLIT1	10	98923185	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2904343	98923185	36611562	461	63469											
SORCS1	114815	broad.mit.edu	37	chr10	108923887	108923887	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcctgctgccctccatctCttagcactccccgggggctc	3	10	9	19	1	1	0	0	0	1	0	6	0	4	0	5	2	3	4	5	2	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:108923887C>G	ENST00000263054.6	-	1	405	c.398G>C	c.(397-399)aGa>aCa	p.R133T	SORCS1_ENST00000344440.6_Missense_Mutation_p.R133T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	133						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCCTCCATCTCTTAGCACTCC	0.687													5	31					0	0	0	0	G	108923887	C	G	108923887	3	3	339	1	0	0	0	0	1	0	0	0	15018	913	32	2	3446	2	SORCS1	10	108923887	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	10000702	108923887	26610860	462	63470											
DOCK1	1793	broad.mit.edu	37	chr10	128829949	128829949	+	Missense_Mutation	SNP	T	T	C																															agaaaatatttgcactagcaTttgtcaagctgatgagatac																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:128829949T>C	ENST00000280333.6	+	17	1706	c.1597T>C	c.(1597-1599)Ttt>Ctt	p.F533L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	533	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGCACTAGCATTTGTCAAGCT	0.353													16	47					0	0	0	0	C	128829949	T	C	128829949	3	2	339	1	0	0	0	0	1	0	0	0	4720	1493	52	5	1663	5	DOCK1	10	128829949	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	19906062	128829949	6704798	463	63471	761	2									
DOCK1	1793	broad.mit.edu	37	chr10	128829952	128829952	+	Missense_Mutation	SNP	G	G	T																															aaatatttgcactagcatttGtcaagctgatgagatacgat																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:128829952G>T	ENST00000280333.6	+	17	1709	c.1600G>T	c.(1600-1602)Gtc>Ttc	p.V534F		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	534	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACTAGCATTTGTCAAGCTGAT	0.353													16	47					1.45105e-14	2.44965e-14	1	0	T	128829952	G	T	128829952	3	4	339	1	0	0	0	0	1	0	0	0	4720	1377	48	4	1666	4	DOCK1	10	128829952	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3	128829952	6704795	464	63472	761	2									
MKI67	4288	broad.mit.edu	37	chr10	129914193	129914193	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactgtcttctttgacattcTtgatatgtacctgaggattt	8	19	7	7	0	3	3	0	3	3	0	3	4	3	4	1	1	2	1	1	1	3	8			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:129914193T>C	ENST00000368654.3	-	7	854	c.479A>G	c.(478-480)aAg>aGg	p.K160R	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	160					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGACATTCTTGATATGTAC	0.393													8	62					0	0	0	0	C	129914193	T	C	129914193	3	2	339	1	0	0	0	0	1	0	0	0	9667	1609	56	5	9327	5	MKI67	10	129914193	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	1084241	129914193	5620554	465	63473											
DPYSL4	10570	broad.mit.edu	37	chr10	134016257	134016257	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaagatgtttgtcaccccGggggcgggccgcttcgtccc	4	8	16	13	4	1	1	1	0	0	1	3	2	2	2	4	4	0	2	4	4	1	2	rs141190261		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:134016257G>T	ENST00000338492.4	+	12	1553	c.1389G>T	c.(1387-1389)ccG>ccT	p.P463P	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	463					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TTGTCACCCCGGGGGCGGGCC	0.617													4	42					0.00909568	0.00997907	1	0	T	134016257	G	T	134016257	2	4	339	1	0	0	0	0	0	0	0	1	4785	1103	39	3		3	DPYSL4	10	134016257	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4102064	134016257	1518490	466	63474											
PHRF1	57661	broad.mit.edu	37	chr11	609228	609228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtgtgagccggacgacctgGacctggattatggcgactcc	8	8	14	11	3	0	1	0	1	0	0	1	6	1	4	4	4	1	0	4	4	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:609228G>A	ENST00000264555.5	+	14	3900	c.3772G>A	c.(3772-3774)Gac>Aac	p.D1258N	PHRF1_ENST00000416188.2_Missense_Mutation_p.D1257N|PHRF1_ENST00000533464.1_Missense_Mutation_p.D1254N|PHRF1_ENST00000413872.2_Missense_Mutation_p.D1256N	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1258							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGACGACCTGGACCTGGATTA	0.622													3	28					0	0	0	0	A	609228	G	A	609228	3	1	339	1	0	0	0	0	1	0	0	0	11933	1174	41	2	3819	2	PHRF1	11	609228	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08		609228	134397288	467	63475											
MUC2	4583	broad.mit.edu	37	chr11	1093908	1093908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacacactgtctccaccGcccagcaccaccacgtcccc	8	4	6	23	2	1	0	0	0	1	0	3	0	2	0	8	1	1	1	8	1	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:1093908G>A	ENST00000441003.2	+	30	5754	c.5727G>A	c.(5725-5727)ccG>ccA	p.P1909P	MUC2_ENST00000333592.6_Silent_p.P197P|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1935						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGTCTCCACCGCCCAGCACCA	0.647													6	46					0	0	0	0	A	1093908	G	A	1093908	2	1	339	1	0	0	0	0	0	0	0	1	10045	1074	38	1		1	MUC2	11	1093908	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	484680	1093908	133912608	468	63476											
MUC5B	727897	broad.mit.edu	37	chr11	1265896	1265896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccggctctgtggccaccCcctcctccaccccaggaaca	7	5	7	22	1	1	0	0	0	1	0	3	1	3	1	9	3	1	1	9	3	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:1265896C>A	ENST00000447027.1	+	31	7853	c.7795C>A	c.(7795-7797)Ccc>Acc	p.P2599T	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2596T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2596	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2596S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGTGGCCACCCCCTCCTCCAC	0.652													16	71					0.000308642	0.000381632	1	0	A	1265896	C	A	1265896	3	1	339	1	0	0	0	0	1	0	0	0	10049	623	22	4	7917	4	MUC5B	11	1265896	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	171988	1265896	133740620	469	63477											
OR52B6	340980	broad.mit.edu	37	chr11	5602457	5602457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcatttcctttgatggctgCctcactcagatgttcttcat	6	17	6	12	0	5	2	4	1	1	1	6	2	6	2	2	1	1	2	2	1	0	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:5602457C>G	ENST00000345043.2	+	1	351	c.351C>G	c.(349-351)tgC>tgG	p.C117W	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGATGGCTGCCTCACTCAGA	0.532													12	69					0	0	0	0	G	5602457	C	G	5602457	3	3	339	1	0	0	0	0	1	0	0	0	11184	747	26	4	353	4	OR52B6	11	5602457	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	4336561	5602457	129404059	470	63478											
OR52N5	390075	broad.mit.edu	37	chr11	5799487	5799487	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatagcggtctagagccatGagcatgagcaccccagactc	12	6	10	13	1	1	4	0	2	1	2	2	4	1	4	3	1	4	2	3	1	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:5799487G>A	ENST00000317093.2	-	1	410	c.378C>T	c.(376-378)ctC>ctT	p.L126L	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CTAGAGCCATGAGCATGAGCA	0.488													10	23					0	0	0	0	A	5799487	G	A	5799487	2	1	339	1	0	0	0	0	0	0	0	1	11201	1277	45	2		2	OR52N5	11	5799487	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	197030	5799487	129207029	471	63479											
OR52N1	79473	broad.mit.edu	37	chr11	5809805	5809805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaatatgaagagagtgttgGgaagggtgctggtgcacatg	12	9	16	4	0	0	2	0	1	0	1	0	4	0	3	0	3	2	3	0	3	4	2	rs142442713	by1000genomes	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:5809805G>A	ENST00000317078.1	-	1	241	c.242C>T	c.(241-243)cCc>cTc	p.P81L	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAGAGTGTTGGGAAGGGTGCT	0.463													5	54					0	0	0	0	A	5809805	G	A	5809805	3	1	339	1	0	0	0	0	1	0	0	0	11198	1232	43	4	723	4	OR52N1	11	5809805	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	10318	5809805	129196711	472	63480											
APBB1	322	broad.mit.edu	37	chr11	6432114	6432114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcctcctcctcggcctccCcggccgccttctcctctccc	0	10	5	26	3	2	0	0	0	2	0	9	0	6	0	11	2	0	0	11	2	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:6432114C>A	ENST00000389906.2	-	2	563	c.464G>T	c.(463-465)gGg>gTg	p.G155V	APBB1_ENST00000299402.6_Missense_Mutation_p.G155V|APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.G155V	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	155					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ctcggcctccccggccgcctt	0.627													10	55					0.000442599	0.00054214	1	0	A	6432114	C	A	6432114	3	1	339	1	0	0	0	0	1	0	0	0	760	623	22	4	1720	4	APBB1	11	6432114	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	622309	6432114	128574402	473	63481											
NLRP14	338323	broad.mit.edu	37	chr11	7064265	7064265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgaggatgcaagagaGgagtatatttaccagttttt	12	14	11	4	0	1	2	0	1	1	1	1	5	1	4	1	2	2	3	1	2	4	6	rs144493780	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:7064265G>T	ENST00000299481.4	+	4	1354	c.1008G>T	c.(1006-1008)gaG>gaT	p.E336D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	336	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGCAAGAGAGGAGTATATTT	0.398													7	69					8.12818e-05	0.000103873	1	0	T	7064265	G	T	7064265	3	4	339	1	0	0	0	0	1	0	0	0	10546	991	35	4	1018	4	NLRP14	11	7064265	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	632151	7064265	127942251	474	63482											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077145	19077146	+	Frame_Shift_Ins	INS	-	-	T																															ttggcactgctgttaagagaINStgacaggacaactgaaactg																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:19077145_19077146insT	ENST00000329773.2	-	2	891_892	c.804_805insA	c.(802-807)tcctctfs	p.S269fs		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	269					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CTGTTAAGAGATGACAGGACAA	0.485													10	50	---	---	---	---					T	19077146	-	T	19077145	7	5	339	1	0	1	1	0	0	0	0	0	9837	333	12	0	191	0	MRGPRX2	11	19077145	Frame_Shift_Ins	INS	-	TCGA-CV-A45Z-01A-21D-A25D-08	12012880	19077145	115929371	475	63483											
KCNA4	3739	broad.mit.edu	37	chr11	30034131	30034131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctggagtgagcaagcCtctcccgctcccgggcccgg	4	6	13	18	3	1	1	0	1	1	0	3	2	2	2	5	3	3	2	5	3	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:30034131C>A	ENST00000328224.6	-	2	1328	c.95G>T	c.(94-96)aGg>aTg	p.R32M		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	32						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GTGAGCAAGCCTCTCCCGCTC	0.647													9	70					5.4927e-09	8.7864e-09	1	0	A	30034131	C	A	30034131	3	1	339	1	0	0	0	0	1	0	0	0	8058	681	24	4	1870	4	KCNA4	11	30034131	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	10956986	30034131	104972385	476	63484											
OR4C12	283093	broad.mit.edu	37	chr11	50003617	50003617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggccactgccaccaggaGaatgcacaggctgtggctca	10	5	12	14	0	1	1	1	0	0	1	1	2	1	1	4	4	2	3	4	4	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:50003617G>A	ENST00000335238.4	-	1	454	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GCCACCAGGAGAATGCACAGG	0.507													24	126					0	0	0	0	A	50003617	G	A	50003617	3	1	339	1	0	0	0	0	1	0	0	0	11117	942	33	2	512	2	OR4C12	11	50003617	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	19969486	50003617	85002899	477	63485											
OR4A5	81318	broad.mit.edu	37	chr11	51412329	51412329	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacatgacaaataatgcttTttgcacaccaggatcctgag	15	10	7	9	0	0	2	0	2	0	0	1	3	1	3	2	1	3	2	2	1	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:51412329T>G	ENST00000319760.6	-	1	119	c.67A>C	c.(67-69)Aaa>Caa	p.K23Q		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	23			K -> N (in dbSNP:rs56302591).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				AATAATGCTTTTTGCACACCA	0.428													5	36					0	0	0	0	G	51412329	T	G	51412329	3	3	339	1	0	0	0	0	1	0	0	0	11114	1850	64	5	884	5	OR4A5	11	51412329	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	1408712	51412329	83594187	478	63486											
TRIM48	79097	broad.mit.edu	37	chr11	55032763	55032763	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtatcacagacactgtccCgctgagtgggctgctgagga	8	8	14	11	2	1	3	1	2	0	1	2	4	2	4	1	3	1	4	1	3	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55032763C>A	ENST00000417545.2	+	2	518	c.432C>A	c.(430-432)ccC>ccA	p.P144P		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	128						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GACACTGTCCCGCTGAGTGGG	0.493													5	43					0.000602214	0.000724082	1	0	A	55032763	C	A	55032763	2	1	339	1	0	0	0	0	0	0	0	1	16618	639	23	3		3	TRIM48	11	55032763	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3620434	55032763	79973753	479	63487											
OR4A16	81327	broad.mit.edu	37	chr11	55111430	55111430	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctcgtttttgttcccTgtatttttatgtatgttaga	5	22	7	7	1	0	1	0	0	0	1	2	1	1	1	2	0	1	5	2	0	4	10			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55111430T>C	ENST00000314721.2	+	1	804	c.754T>C	c.(754-756)Tgt>Cgt	p.C252R		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTTGTTCCCTGTATTTTTAT	0.373													9	77					0	0	0	0	C	55111430	T	C	55111430	3	2	339	1	0	0	0	0	1	0	0	0	11112	1580	55	5	756	5	OR4A16	11	55111430	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	78667	55111430	79895086	480	63488											
OR4A15	81328	broad.mit.edu	37	chr11	55136372	55136372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taaaaaagtaagcttagctgGgaaatggctgtatcactcat	15	11	9	6	0	2	0	2	0	0	0	2	1	2	1	0	2	2	5	0	2	7	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55136372G>T	ENST00000314706.3	+	1	1013	c.1013G>T	c.(1012-1014)gGg>gTg	p.G338V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	338					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AGCTTAGCTGGGAAATGGCTG	0.368													9	84					1.12685e-05	1.55281e-05	1	0	T	55136372	G	T	55136372	3	4	339	1	0	0	0	0	1	0	0	0	11111	1232	43	4	1015	4	OR4A15	11	55136372	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	24942	55136372	79870144	481	63489											
OR4P4	81300	broad.mit.edu	37	chr11	55406720	55406720	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagatgaagaacgccaTgaggaaagtgtggtgttgtc	13	8	14	6	1	0	4	0	2	0	2	1	6	0	5	1	2	1	1	1	2	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55406720T>A	ENST00000314612.2	+	1	887	c.887T>A	c.(886-888)aTg>aAg	p.M296K		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAGAACGCCATGAGGAAAGTG	0.388													9	19					0	0	0	0	A	55406720	T	A	55406720	3	1	339	1	0	0	0	0	1	0	0	0	11151	1464	51	5	889	5	OR4P4	11	55406720	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	270348	55406720	79599796	482	63490											
OR4C6	219432	broad.mit.edu	37	chr11	55432896	55432896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgattgtagacaccctctCcaagagcactaccatctctc	10	10	7	14	0	2	3	0	1	2	2	5	3	2	3	3	1	2	2	3	1	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55432896C>T	ENST00000314259.3	+	1	283	c.254C>T	c.(253-255)tCc>tTc	p.S85F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GACACCCTCTCCAAGAGCACT	0.483													13	77					0	0	0	0	T	55432896	C	T	55432896	3	4	339	1	0	0	0	0	1	0	0	0	11123	855	30	2	256	2	OR4C6	11	55432896	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	26176	55432896	79573620	483	63491											
OR4C6	219432	broad.mit.edu	37	chr11	55432908	55432908	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccctctccaagagcactaCcatctctctcaaaggctgcc	10	8	5	18	0	3	1	1	0	3	1	6	1	3	1	4	1	3	2	4	1	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55432908C>G	ENST00000314259.3	+	1	295	c.266C>G	c.(265-267)aCc>aGc	p.T89S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AAGAGCACTACCATCTCTCTC	0.493													12	79					0	0	0	0	G	55432908	C	G	55432908	3	3	339	1	0	0	0	0	1	0	0	0	11123	507	18	4	268	4	OR4C6	11	55432908	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	12	55432908	79573608	484	63492											
OR5D13	390142	broad.mit.edu	37	chr11	55540934	55540934	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatggcatctgaaagaaaTcaaagcagcacacccacttt	16	8	7	10	0	2	3	1	2	1	1	2	3	2	3	1	1	2	3	1	1	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55540934T>A	ENST00000361760.1	+	1	21	c.21T>A	c.(19-21)aaT>aaA	p.N7K		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTGAAAGAAATCAAAGCAGCA	0.378													14	80					0	0	0	0	A	55540934	T	A	55540934	3	1	339	1	0	0	0	0	1	0	0	0	11225	1432	50	5	23	5	OR5D13	11	55540934	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	108026	55540934	79465582	485	63493			1	97		3	3	533	N	T_G_C	9.070125e-05
OR5D13	390142	broad.mit.edu	37	chr11	55541282	55541282	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttagcagcgatggcttatgaCcgttttgtggcagtttgtaa	8	15	12	6	2	0	1	0	1	0	0	0	2	0	1	1	2	2	6	1	2	3	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55541282C>T	ENST00000361760.1	+	1	369	c.369C>T	c.(367-369)gaC>gaT	p.D123D		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGGCTTATGACCGTTTTGTGG	0.428													20	136					0	0	0	0	T	55541282	C	T	55541282	2	4	339	1	0	0	0	0	0	0	0	1	11225	506	18	4		4	OR5D13	11	55541282	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	348	55541282	79465234	486	63494			1	97		3	3	533	N	T_G_C	9.070125e-05
OR5D13	390142	broad.mit.edu	37	chr11	55541466	55541466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttatctgtgaccactctGtaattgtttctgcctcctac	7	18	5	11	0	3	1	0	1	3	0	4	1	4	1	3	0	2	2	3	0	3	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55541466G>A	ENST00000361760.1	+	1	553	c.553G>A	c.(553-555)Gta>Ata	p.V185I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGACCACTCTGTAATTGTTTC	0.388													9	119					0	0	0	0	A	55541466	G	A	55541466	3	1	339	1	0	0	0	0	1	0	0	0	11225	1377	48	4	555	4	OR5D13	11	55541466	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	184	55541466	79465050	487	63495			1	97		3	3	533	N	T_G_C	9.070125e-05
OR5D18	219438	broad.mit.edu	37	chr11	55587755	55587755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactactcatcgttctcaCatcttatgcgttcattgttg	8	16	5	12	2	4	0	3	0	2	0	6	0	4	0	0	0	2	3	0	0	2	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55587755C>A	ENST00000333976.4	+	1	670	c.650C>A	c.(649-651)aCa>aAa	p.T217K		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ATCGTTCTCACATCTTATGCG	0.483													10	80					0.00621372	0.00701054	1	0	A	55587755	C	A	55587755	3	1	339	1	0	0	0	0	1	0	0	0	11228	478	17	4	652	4	OR5D18	11	55587755	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	46289	55587755	79418761	488	63496											
OR5D16	390144	broad.mit.edu	37	chr11	55606783	55606783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgtgagttatcctccCtgatatcactctcttaccct	6	17	4	14	0	4	2	1	2	3	0	7	2	6	2	3	0	1	1	3	0	3	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55606783C>A	ENST00000378396.1	+	1	556	c.556C>A	c.(556-558)Ctg>Atg	p.L186M		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GTTATCCTCCCTGATATCACT	0.418													8	88					0.00307968	0.00353564	1	0	A	55606783	C	A	55606783	3	1	339	1	0	0	0	0	1	0	0	0	11227	680	24	4	558	4	OR5D16	11	55606783	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	19028	55606783	79399733	489	63497											
OR5W2	390148	broad.mit.edu	37	chr11	55681516	55681516	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagagtaataagagaggaggGatatcacagaagaaatgatt	19	7	13	2	0	1	5	1	1	0	4	1	9	1	7	0	2	0	1	0	2	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55681516G>T	ENST00000344514.1	-	1	542	c.543C>A	c.(541-543)atC>atA	p.I181I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAGAGGAGGGATATCACAGA	0.403													10	82					3.86212e-05	5.08466e-05	1	0	T	55681516	G	T	55681516	2	4	339	1	0	0	0	0	0	0	0	1	11256	1164	41	2		2	OR5W2	11	55681516	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	74733	55681516	79325000	490	63498											
OR5W2	390148	broad.mit.edu	37	chr11	55681737	55681737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtagacactcagaatctgCaaagatacagaagaccaaga	19	5	8	9	0	2	6	1	0	1	6	2	6	2	6	1	0	2	2	1	0	6	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55681737C>A	ENST00000344514.1	-	1	321	c.322G>T	c.(322-324)Gca>Tca	p.A108S		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCAGAATCTGCAAAGATACAG	0.473													15	53					1.05317e-09	1.71164e-09	1	0	A	55681737	C	A	55681737	3	1	339	1	0	0	0	0	1	0	0	0	11256	710	25	4	612	4	OR5W2	11	55681737	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	221	55681737	79324779	491	63499											
OR8H2	390151	broad.mit.edu	37	chr11	55872554	55872554	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataacacaaatgtggctgaCttcatccttatgggactgac	13	11	8	9	0	1	2	1	2	0	0	2	3	2	3	1	2	1	1	1	2	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55872554C>T	ENST00000313503.1	+	1	36	c.36C>T	c.(34-36)gaC>gaT	p.D12D		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATGTGGCTGACTTCATCCTTA	0.448										HNSCC(53;0.14)			13	170					0	0	0	0	T	55872554	C	T	55872554	2	4	339	1	0	0	0	0	0	0	0	1	11309	564	20	4		4	OR8H2	11	55872554	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	190817	55872554	79133962	492	63500											
OR8J3	81168	broad.mit.edu	37	chr11	55904673	55904673	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcacagtaaaaatgattGattatattagaagagcaata	20	12	6	3	0	1	4	1	2	0	2	1	4	1	4	0	0	1	2	0	0	10	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55904673G>T	ENST00000301529.1	-	1	521	c.522C>A	c.(520-522)atC>atA	p.I174I		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AAAAATGATTGATTATATTAG	0.373													4	57					0.00909568	0.00997907	1	0	T	55904673	G	T	55904673	2	4	339	1	0	0	0	0	0	0	0	1	11313	1280	45	2		2	OR8J3	11	55904673	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	32119	55904673	79101843	493	63501											
OR5J2	282775	broad.mit.edu	37	chr11	55944828	55944828	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacctgtgcctctcacctGactgctgtgaccatattcta	7	13	6	15	0	2	2	1	2	2	0	4	2	3	2	5	0	2	1	5	0	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55944828G>A	ENST00000312298.1	+	1	735	c.735G>A	c.(733-735)ctG>ctA	p.L245L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CCTCTCACCTGACTGCTGTGA	0.438													12	81					0	0	0	0	A	55944828	G	A	55944828	2	1	339	1	0	0	0	0	0	0	0	1	11236	1277	45	2		2	OR5J2	11	55944828	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	40155	55944828	79061688	494	63502											
OR5T3	390154	broad.mit.edu	37	chr11	56020472	56020472	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgctaagggaaggcaaaAggccttctctacatgtggct	10	11	11	9	0	2	0	0	0	2	0	3	1	2	1	1	4	2	3	1	4	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:56020472A>G	ENST00000303059.3	+	1	797	c.797A>G	c.(796-798)aAg>aGg	p.K266R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGAAGGCAAAAGGCCTTCTCT	0.423													27	142					0	0	0	0	G	56020472	A	G	56020472	3	3	339	1	0	0	0	0	1	0	0	0	11254	72	3	5	799	5	OR5T3	11	56020472	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	75644	56020472	78986044	495	63503											
OR8K1	390157	broad.mit.edu	37	chr11	56113724	56113724	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtactttttccttagAcatttgtcaatcactgatct	9	17	4	11	0	3	2	2	1	1	1	4	2	4	2	2	0	1	1	2	0	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:56113724A>G	ENST00000279783.2	+	1	304	c.210A>G	c.(208-210)agA>agG	p.R70R		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TTTTCCTTAGACATTTGTCAA	0.408										HNSCC(65;0.19)			10	96					0	0	0	0	G	56113724	A	G	56113724	2	3	339	1	0	0	0	0	0	0	0	1	11314	272	10	5		5	OR8K1	11	56113724	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	93252	56113724	78892792	496	63504											
OR5M11	219487	broad.mit.edu	37	chr11	56310644	56310644	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgaggtaaacaaccagaaaCagcacaaaaagcagagactg	21	2	9	9	1	0	2	0	0	0	2	0	4	0	2	1	1	5	3	1	1	6	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:56310644C>A	ENST00000528616.2	-	1	113	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CAACCAGAAACAGCACAAAAA	0.473													15	70					2.32078e-09	3.7518e-09	1	0	A	56310644	C	A	56310644	2	1	339	1	0	0	0	0	0	0	0	1	11245	465	17	4		4	OR5M11	11	56310644	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	196920	56310644	78695872	497	63505											
OR9G4	283189	broad.mit.edu	37	chr11	56511255	56511255	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttccatgtccacggaggtGaaagcctgactatcatgaga	12	9	10	10	1	1	3	1	3	0	1	3	5	3	4	3	2	1	0	3	2	2	2	rs61735257	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:56511255G>A	ENST00000302957.3	-	1	32	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCACGGAGGTGAAAGCCTGAC	0.413													9	63					0	0	0	0	A	56511255	G	A	56511255	2	1	339	1	0	0	0	0	0	0	0	1	11322	1281	45	2		2	OR9G4	11	56511255	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	200611	56511255	78495261	498	63506											
SLC43A1	8501	broad.mit.edu	37	chr11	57256844	57256844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtagcgtggtctgatGgatttggtagcaaccccgtc	7	12	13	9	2	1	1	0	1	1	0	2	2	1	2	2	3	4	4	2	3	3	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:57256844G>A	ENST00000278426.3	-	12	1570	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	SLC43A1_ENST00000528450.1_Silent_p.S405S	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	405					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GTGGTCTGATGGATTTGGTAG	0.572													12	78					0	0	0	0	A	57256844	G	A	57256844	2	1	339	1	0	0	0	0	0	0	0	1	14720	1335	47	4		4	SLC43A1	11	57256844	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	745589	57256844	77749672	499	63507											
OR10W1	81341	broad.mit.edu	37	chr11	58034652	58034652	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcaggtggagaaggcccGgtggcggccagcagccgagt	9	3	19	10	3	0	2	0	0	0	2	0	4	0	2	3	6	3	2	3	6	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:58034652G>C	ENST00000395079.2	-	1	1080	c.679C>G	c.(679-681)Cgg>Ggg	p.R227G		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GAGAAGGCCCGGTGGCGGCCA	0.582													9	52					0	0	0	0	C	58034652	G	C	58034652	3	2	339	1	0	0	0	0	1	0	0	0	10992	1115	39	3	242	3	OR10W1	11	58034652	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	777808	58034652	76971864	500	63508											
OR5B17	219965	broad.mit.edu	37	chr11	58126459	58126459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaggtagatgagggtaaaCatgataaagaggggaacctg	16	7	15	3	0	0	5	0	3	0	2	0	6	0	6	1	4	2	2	1	4	6	3	rs149291904		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:58126459C>A	ENST00000357377.3	-	1	83	c.84G>T	c.(82-84)atG>atT	p.M28I		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAGGGTAAACATGATAAAGA	0.428													5	69					0.217242	0.220863	1	0	A	58126459	C	A	58126459	3	1	339	1	0	0	0	0	1	0	0	0	11220	478	17	4	862	4	OR5B17	11	58126459	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	91807	58126459	76880057	501	63509											
GLYATL2	219970	broad.mit.edu	37	chr11	58602269	58602269	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgttcattcacaagacctGcatgtgaagcatctaagaac	14	10	8	9	0	3	3	2	1	1	2	3	3	3	3	1	0	3	3	1	0	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:58602269G>C	ENST00000287275.1	-	6	908	c.518C>G	c.(517-519)gCa>gGa	p.A173G	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.A173G	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	173						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CACAAGACCTGCATGTGAAGC	0.388													7	27					0	0	0	0	C	58602269	G	C	58602269	3	2	339	1	0	0	0	0	1	0	0	0	6532	1319	46	4	370	4	GLYATL2	11	58602269	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	475810	58602269	76404247	502	63510											
GLYATL1	92292	broad.mit.edu	37	chr11	58723315	58723315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaaataccgaaggacaGgcaacatggcacgagtgatg	16	5	13	7	2	0	1	0	1	0	0	0	5	0	3	1	4	2	2	1	4	5	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:58723315G>T	ENST00000300079.5	+	7	867	c.817G>T	c.(817-819)Ggc>Tgc	p.G273C	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.G242C	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	242						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCGAAGGACAGGCAACATGGC	0.483													9	40					0.00448238	0.00512672	1	0	T	58723315	G	T	58723315	3	4	339	1	0	0	0	0	1	0	0	0	6531	1000	35	4	843	4	GLYATL1	11	58723315	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	121046	58723315	76283201	503	63511											
OR4D6	219983	broad.mit.edu	37	chr11	59224907	59224907	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtggtttgcattcaatcatCcaggtaattctgatgcttcc	8	15	9	9	0	3	1	2	1	1	0	5	1	5	1	2	3	2	4	2	3	2	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:59224907C>T	ENST00000300127.2	+	1	497	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ATTCAATCATCCAGGTAATTC	0.522													8	122					0	0	0	0	T	59224907	C	T	59224907	2	4	339	1	0	0	0	0	0	0	0	1	11129	845	30	2		2	OR4D6	11	59224907	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	501592	59224907	75781609	504	63512											
SCGB1D2	10647	broad.mit.edu	37	chr11	62010877	62010877	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctccggaagctgttgcaGccaagttaggagtgaagaga	11	7	13	10	1	0	2	0	1	0	1	1	5	1	4	4	2	3	4	4	2	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:62010877G>T	ENST00000244926.3	+	2	270	c.172G>T	c.(172-174)Gcc>Tcc	p.A58S	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	58						extracellular space	binding			breast(1)|endometrium(1)|lung(1)	3						AGCTGTTGCAGCCAAGTTAGG	0.453													6	50					0.00116845	0.00137597	1	0	T	62010877	G	T	62010877	3	4	339	1	0	0	0	0	1	0	0	0	13983	971	34	4	178	4	SCGB1D2	11	62010877	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2785970	62010877	72995639	505	63513											
POLR2G	5436	broad.mit.edu	37	chr11	62529266	62529266	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcccacttttctccgcaGatctccctagagcacgaaat	10	10	5	16	2	2	2	0	0	2	2	5	3	3	2	4	0	1	2	4	0	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:62529266G>T	ENST00000301788.7	+	2	117		c.e2-1			NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G						mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding			lung(3)	3						TTTCTCCGCAGATCTCCCTAG	0.617													8	104					1.06961e-07	1.64764e-07	1	0	T	62529266	G	T	62529266	5	4	339	1	0	0	0	0	0	0	1	0	12292	956	33	2	18	2	POLR2G	11	62529266	Splice_Site	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	518389	62529266	72477250	506	63514											
SF3B2	10992	broad.mit.edu	37	chr11	65827009	65827009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaagccagaagcccccaaGctgtccaagaagaagttgcg	15	4	11	11	1	0	4	0	0	0	4	1	4	1	4	4	0	4	2	4	0	7	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:65827009G>T	ENST00000528302.1	+	11	1347	c.1293G>T	c.(1291-1293)aaG>aaT	p.K431N	SF3B2_ENST00000322535.6_Missense_Mutation_p.K448N			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	448					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AAGCCCCCAAGCTGTCCAAGA	0.537													5	61					0.184627	0.188964	1	0	T	65827009	G	T	65827009	3	4	339	1	0	0	0	0	1	0	0	0	14238	962	34	4	1390	4	SF3B2	11	65827009	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3297743	65827009	69179507	507	63515											
CD248	57124	broad.mit.edu	37	chr11	66083298	66083298	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaaagtcaggcggctgcgTaggctccatccacaggatcc	9	6	13	13	2	1	0	1	0	0	0	4	1	4	1	3	5	1	4	3	5	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:66083298T>G	ENST00000311330.3	-	1	1217	c.1201A>C	c.(1201-1203)Acg>Ccg	p.T401P	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	401	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGCGGCTGCGTAGGCTCCATC	0.627													6	65					0	0	0	0	G	66083298	T	G	66083298	3	3	339	1	0	0	0	0	1	0	0	0	3018	1638	57	5	1076	5	CD248	11	66083298	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	256289	66083298	68923218	508	63516											
IGHMBP2	3508	broad.mit.edu	37	chr11	68682420	68682420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccattcagcagcactccctgGatgcggttttagcgcggagc	7	9	12	13	3	1	0	1	0	0	0	2	2	2	2	2	3	5	3	2	3	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:68682420G>A	ENST00000255078.3	+	6	952	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	281	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCACTCCCTGGATGCGGTTTT	0.592													4	56					0	0	0	0	A	68682420	G	A	68682420	3	1	339	1	0	0	0	0	1	0	0	0	7644	1174	41	2	863	2	IGHMBP2	11	68682420	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2599122	68682420	66324096	509	63517											
GDPD5	81544	broad.mit.edu	37	chr11	75146607	75146607	+	Frame_Shift_Del	DEL	C	C	-																															ggctgccaccccctcgggggCccacaggggtggcggtgctg																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:75146607delC	ENST00000526177.1	-	13	3227	c.1349delG	c.(1348-1350)gcfs	p.G450fs	GDPD5_ENST00000533784.1_Frame_Shift_Del_p.G469fs|GDPD5_ENST00000533805.1_Frame_Shift_Del_p.G343fs|GDPD5_ENST00000529721.1_Frame_Shift_Del_p.G588fs|GDPD5_ENST00000336898.3_Frame_Shift_Del_p.G588fs|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Frame_Shift_Del_p.G469fs			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	588	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CCCTCGGGGGCCCACAGGGGT	0.582													10	39	---	---	---	---					-	75146607	C	-	75146607	7	5	339	1	0	1	0	1	0	0	0	0	6378	739	26	0	58	0	GDPD5	11	75146607	Frame_Shift_Del	DEL	C	TCGA-CV-A45Z-01A-21D-A25D-08	6464187	75146607	59859909	510	63518											
CREBZF	58487	broad.mit.edu	37	chr11	85375310	85375310	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggactctttgtcgccgcctGgttgttgtcgttaccgctgc	2	14	13	12	4	1	0	0	0	1	0	3	1	1	1	3	2	2	4	3	2	1	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:85375310G>A	ENST00000527447.1	-	1	836	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	CREBZF_ENST00000398294.2_Nonsense_Mutation_p.Q122*|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	204					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				gtcgccgcctggttgttgtcg	0.657											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	29					0	0	0	0	A	85375310	G	A	85375310	4	1	339	1	0	0	0	0	0	1	0	0	3893	1357	47	4	458	4	CREBZF	11	85375310	Nonsense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	10228703	85375310	49631206	511	63519											
RAB38	23682	broad.mit.edu	37	chr11	87883022	87883022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaatcatttttccactttgCcactgcttcaaatgtggctg	9	15	6	11	0	2	0	2	0	0	0	3	0	3	0	2	1	2	2	2	1	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:87883022C>A	ENST00000243662.6	-	2	386	c.304G>T	c.(304-306)Gca>Tca	p.A102S		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	102					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCCACTTTGCCACTGCTTCA	0.448													6	126					3.59834e-05	4.78558e-05	1	0	A	87883022	C	A	87883022	3	1	339	1	0	0	0	0	1	0	0	0	13010	739	26	4	339	4	RAB38	11	87883022	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2507712	87883022	47123494	512	63520											
GRM5	2915	broad.mit.edu	37	chr11	88300970	88300970	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggtacataagtagccCaggcagatgccagcaaggat	15	5	12	9	0	0	2	0	0	0	2	0	3	0	3	2	3	4	4	2	3	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:88300970C>A	ENST00000418177.2	-	8	2248	c.1881G>T	c.(1879-1881)ctG>ctT	p.L627L	GRM5_ENST00000393297.1_Silent_p.L627L|GRM5_ENST00000305432.5_Silent_p.L627L|GRM5_ENST00000305447.4_Silent_p.L627L|GRM5_ENST00000455756.2_Silent_p.L627L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	627					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ATAAGTAGCCCAGGCAGATGC	0.478													12	36					7.03913e-09	1.12209e-08	1	0	A	88300970	C	A	88300970	2	1	339	1	0	0	0	0	0	0	0	1	6850	581	21	4		4	GRM5	11	88300970	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	417948	88300970	46705546	513	63521											
TRIM49	57093	broad.mit.edu	37	chr11	89537433	89537433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagccatcttcttcaaatGaatgttggttttgaggttta	11	16	9	5	0	3	3	1	2	2	1	3	3	3	3	1	2	1	3	1	2	4	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:89537433G>A	ENST00000329758.1	-	3	533	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	TRIM49_ENST00000532501.2_Missense_Mutation_p.H69Y	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	69						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTCTTCAAATGAATGTTGGTT	0.458													4	55					0	0	0	0	A	89537433	G	A	89537433	3	1	339	1	0	0	0	0	1	0	0	0	16619	1290	45	2	1177	2	TRIM49	11	89537433	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1236463	89537433	45469083	514	63522											
FAT3	120114	broad.mit.edu	37	chr11	92085509	92085509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accttaatagatctatcctgGgatatcaaatacagaatagt	16	12	6	7	0	2	2	1	0	1	2	3	3	3	3	2	1	1	0	2	1	8	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:92085509G>C	ENST00000298047.6	+	1	248	c.231G>C	c.(229-231)tgG>tgC	p.W77C	FAT3_ENST00000541502.1_Missense_Mutation_p.W77C|FAT3_ENST00000409404.2_Missense_Mutation_p.W77C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	77	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCTATCCTGGGATATCAAAT	0.413										TCGA Ovarian(4;0.039)			4	56					0	0	0	0	C	92085509	G	C	92085509	3	2	339	1	0	0	0	0	1	0	0	0	5736	1241	43	4	233	4	FAT3	11	92085509	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2548076	92085509	42921007	515	63523											
FAT3	120114	broad.mit.edu	37	chr11	92531085	92531085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagacatgacgacgatgggtCagtttgtcctatccatcaaa	12	10	9	10	2	2	2	2	1	0	1	4	4	4	2	2	1	0	1	2	1	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:92531085C>G	ENST00000298047.6	+	9	4923	c.4906C>G	c.(4906-4908)Cag>Gag	p.Q1636E	FAT3_ENST00000525166.1_Missense_Mutation_p.Q1486E|FAT3_ENST00000409404.2_Missense_Mutation_p.Q1636E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1636	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACGATGGGTCAGTTTGTCCT	0.468										TCGA Ovarian(4;0.039)			12	52					0	0	0	0	G	92531085	C	G	92531085	3	3	339	1	0	0	0	0	1	0	0	0	5736	827	29	2	4940	2	FAT3	11	92531085	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	445576	92531085	42475431	516	63524											
FAT3	120114	broad.mit.edu	37	chr11	92533210	92533210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcacatagatagctcaagtgGcttaatcctgacagcacgaa	14	9	8	10	1	2	2	2	1	0	1	3	3	3	2	1	1	2	3	1	1	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:92533210G>T	ENST00000298047.6	+	9	7048	c.7031G>T	c.(7030-7032)gGc>gTc	p.G2344V	FAT3_ENST00000525166.1_Missense_Mutation_p.G2194V|FAT3_ENST00000409404.2_Missense_Mutation_p.G2344V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2344	Cadherin 21.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCTCAAGTGGCTTAATCCTG	0.398										TCGA Ovarian(4;0.039)			18	46					5.01169e-05	6.58865e-05	1	0	T	92533210	G	T	92533210	3	4	339	1	0	0	0	0	1	0	0	0	5736	1203	42	4	7065	4	FAT3	11	92533210	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2125	92533210	42473306	517	63525											
HEPHL1	341208	broad.mit.edu	37	chr11	93837916	93837916	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagcaacagaatgcatGgtatatccaaagtttaaaaa	20	8	8	5	0	0	1	0	0	0	1	1	2	1	2	1	2	3	4	1	2	9	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:93837916G>A	ENST00000315765.9	+	16	2913	c.2905_splice	c.e16+1	p.A969_splice		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	969	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGAATGCATGGTATATCCAA	0.398													6	81					0	0	0	0	A	93837916	G	A	93837916	5	1	339	1	0	0	0	0	0	0	1	0	7105	1362	47	4	2967	4	HEPHL1	11	93837916	Splice_Site	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1304706	93837916	41168600	518	63526											
MAML2	84441	broad.mit.edu	37	chr11	95825981	95825981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggctctgagggactgaaGggattggagacgaagtggag	10	7	18	6	1	1	3	0	2	1	1	1	8	1	6	1	5	0	1	1	5	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:95825981G>A	ENST00000524717.1	-	2	2498	c.1214C>T	c.(1213-1215)cCt>cTt	p.P405L		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	405					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AGGGACTGAAGGGATTGGAGA	0.627			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								4	28					0	0	0	0	A	95825981	G	A	95825981	3	1	339	1	0	0	0	0	1	0	0	0	9275	1000	35	4	2272	4	MAML2	11	95825981	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1988065	95825981	39180535	519	63527											
MMP27	64066	broad.mit.edu	37	chr11	102563717	102563717	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatactgattccaggaaagtGttttaccactctctgcggga	10	12	10	9	1	1	1	0	1	1	0	3	4	2	3	2	2	3	1	2	2	3	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:102563717G>C	ENST00000260229.4	-	9	1340	c.1249C>G	c.(1249-1251)Cac>Gac	p.H417D		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	417	Hemopexin-like 3.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CCAGGAAAGTGTTTTACCACT	0.438													15	63					0	0	0	0	C	102563717	G	C	102563717	3	2	339	1	0	0	0	0	1	0	0	0	9734	1377	48	4	300	4	MMP27	11	102563717	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	6737736	102563717	32442799	520	63528											
EXPH5	23086	broad.mit.edu	37	chr11	108381606	108381606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatttgcctcctgacttCtttgaggtaattctcttggt	6	19	7	9	0	3	2	1	2	2	0	5	2	4	2	2	2	1	1	2	2	2	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:108381606C>A	ENST00000265843.4	-	6	4738	c.4628G>T	c.(4627-4629)aGa>aTa	p.R1543I	EXPH5_ENST00000525344.1_Missense_Mutation_p.R1536I|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1355I|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1467I	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1543					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCCTGACTTCTTTGAGGTAA	0.428													8	62					5.18039e-06	7.32621e-06	1	0	A	108381606	C	A	108381606	3	1	339	1	0	0	0	0	1	0	0	0	5360	913	32	2	1345	2	EXPH5	11	108381606	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	5817889	108381606	26624910	521	63529											
DIXDC1	85458	broad.mit.edu	37	chr11	111864411	111864411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtggatctagagcgagagCtagaacacaaagatgtcctc	14	7	12	8	1	1	4	0	0	1	4	3	6	2	5	1	2	3	1	1	2	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:111864411C>A	ENST00000440460.2	+	15	1678	c.1381C>A	c.(1381-1383)Cta>Ata	p.L461I	DIXDC1_ENST00000315253.5_Missense_Mutation_p.L250I|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	462					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AGAGCGAGAGCTAGAACACAA	0.458													11	23					3.86212e-05	5.08466e-05	1	0	A	111864411	C	A	111864411	3	1	339	1	0	0	0	0	1	0	0	0	4578	796	28	4	1464	4	DIXDC1	11	111864411	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3482805	111864411	23142105	522	63530											
HTR3A	3359	broad.mit.edu	37	chr11	113856810	113856810	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagtgtcttcatgaaccaGggagagtgggagttgctggg	9	9	18	5	0	2	2	1	1	1	1	2	5	2	4	1	4	2	2	1	4	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:113856810G>A	ENST00000504030.2	+	6	1063	c.618G>A	c.(616-618)caG>caA	p.Q206Q	HTR3A_ENST00000506841.2_Silent_p.Q206Q|HTR3A_ENST00000299961.5_Silent_p.Q191Q|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000375498.2_Silent_p.Q212Q|HTR3A_ENST00000355556.2_Silent_p.Q212Q			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	206					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCATGAACCAGGGAGAGTGGG	0.493													40	123					0	0	0	0	A	113856810	G	A	113856810	2	1	339	1	0	0	0	0	0	0	0	1	7497	991	35	4		4	HTR3A	11	113856810	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1992399	113856810	21149706	523	63531											
GRIK4	2900	broad.mit.edu	37	chr11	120744884	120744884	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcctgcggctcggcccAgatctggcagcacggcacca	6	7	12	16	3	1	1	0	0	1	1	3	1	2	1	3	4	2	4	3	4	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:120744884A>T	ENST00000527524.2	+	10	1303	c.1016A>T	c.(1015-1017)cAg>cTg	p.Q339L	RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.Q339L			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	339					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGCTCGGCCCAGATCTGGCAG	0.632													4	16					0	0	0	0	T	120744884	A	T	120744884	3	4	339	1	0	0	0	0	1	0	0	0	6826	188	7	5	1046	5	GRIK4	11	120744884	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	6888074	120744884	14261632	524	63532											
OR8B2	26595	broad.mit.edu	37	chr11	124252580	124252580	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagaatgctagtgacaatGaaaacataagaaatgaggat	20	8	10	3	0	0	6	0	4	0	2	0	7	0	7	0	1	2	1	0	1	8	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:124252580G>A	ENST00000375013.2	-	1	678	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGTGACAATGAAAACATAAG	0.413													9	92					0	0	0	0	A	124252580	G	A	124252580	2	1	339	1	0	0	0	0	0	0	0	1	11298	1281	45	2		2	OR8B2	11	124252580	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3507696	124252580	10753936	525	63533											
CCDC15	80071	broad.mit.edu	37	chr11	124908933	124908933	+	Frame_Shift_Del	DEL	C	C	-																															tgctcatcctgatacctgtgCcaacaactgtattttctata																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:124908933delC	ENST00000529051.1	+	15	2994	c.2735delC	c.(2734-2736)gcfs	p.A912fs	CCDC15_ENST00000530061.1_3'UTR|CCDC15_ENST00000344762.5_Frame_Shift_Del_p.A901fs			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	901						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GATACCTGTGCCAACAACTGT	0.388													12	66	---	---	---	---					-	124908933	C	-	124908933	7	5	339	1	0	1	0	1	0	0	0	0	2809	739	26	0	2756	0	CCDC15	11	124908933	Frame_Shift_Del	DEL	C	TCGA-CV-A45Z-01A-21D-A25D-08	656353	124908933	10097583	526	63534											
PKNOX2	63876	broad.mit.edu	37	chr11	125299947	125299947	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagccaagaagatcaagtctCagcaccggcccacccaaaga	16	3	8	14	1	2	3	2	0	1	3	3	3	2	3	4	1	2	1	4	1	5	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:125299947C>T	ENST00000298282.9	+	12	1373	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	PKNOX2_ENST00000542175.1_Nonsense_Mutation_p.Q304*|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	368						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GATCAAGTCTCAGCACCGGCC	0.617													6	81					0	0	0	0	T	125299947	C	T	125299947	4	4	339	1	0	0	0	0	0	1	0	0	12055	827	29	2	1136	2	PKNOX2	11	125299947	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	391014	125299947	9706569	527	63535											
OPCML	4978	broad.mit.edu	37	chr11	132306095	132306095	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagtggacatgcggcctttGttttcaatcctcattccatc	8	14	8	11	1	2	1	2	0	0	1	5	2	4	2	3	2	1	1	3	2	1	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:132306095G>A	ENST00000331898.7	-	6	1400	c.822C>T	c.(820-822)aaC>aaT	p.N274N	OPCML_ENST00000524381.1_Silent_p.N267N|OPCML_ENST00000541867.1_Silent_p.N274N|OPCML_ENST00000374778.4_Silent_p.N233N|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	274	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGCGGCCTTTGTTTTCAATCC	0.458													5	45					0	0	0	0	A	132306095	G	A	132306095	2	1	339	1	0	0	0	0	0	0	0	1	10945	1368	48	4		4	OPCML	11	132306095	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	7006148	132306095	2700421	528	63536											
SPATA19	219938	broad.mit.edu	37	chr11	133714143	133714143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaagtgggacaccttacctCcatcttatgaactggattcg	10	11	9	11	1	1	1	0	1	1	0	3	3	2	3	3	2	2	1	3	2	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:133714143C>A	ENST00000299140.3	-	4	411	c.357G>T	c.(355-357)tgG>tgT	p.W119C	SPATA19_ENST00000532889.1_Missense_Mutation_p.W119C	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	119					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CACCTTACCTCCATCTTATGA	0.532													7	36					8.12818e-05	0.000103873	1	0	A	133714143	C	A	133714143	3	1	339	1	0	0	0	0	1	0	0	0	15094	856	30	2	158	2	SPATA19	11	133714143	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1408048	133714143	1292373	529	63537											
GLB1L3	112937	broad.mit.edu	37	chr11	134147782	134147782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcctgctgaagctgaaggCctgtggcttcaatactgtca	8	10	11	12	1	2	2	2	2	0	0	2	2	2	2	3	2	3	3	3	2	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:134147782C>A	ENST00000389887.5	+	3	2834	c.338C>A	c.(337-339)gCc>gAc	p.A113D	GLB1L3_ENST00000431683.2_Missense_Mutation_p.A113D			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	113					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AAGCTGAAGGCCTGTGGCTTC	0.597													5	16					0.014758	0.0159053	1	0	A	134147782	C	A	134147782	3	1	339	1	0	0	0	0	1	0	0	0	6481	739	26	4	348	4	GLB1L3	11	134147782	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	433639	134147782	858734	530	63538											
LRTM2	654429	broad.mit.edu	37	chr12	1940644	1940644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacccctgggagtgtgactGtaacctgcgtgagttcaaac	10	10	11	10	1	1	2	1	2	0	0	1	3	1	3	3	1	4	2	3	1	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:1940644G>A	ENST00000543818.1	+	4	1453	c.611G>A	c.(610-612)tGt>tAt	p.C204Y	CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.C204Y|LRTM2_ENST00000299194.1_Missense_Mutation_p.C204Y	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	204	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GAGTGTGACTGTAACCTGCGT	0.602													8	49					0	0	0	0	A	1940644	G	A	1940644	3	1	339	1	0	0	0	0	1	0	0	0	9109	1377	48	4	617	4	LRTM2	12	1940644	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08		1940644	131911251	531	63539											
GALNT8	26290	broad.mit.edu	37	chr12	4855336	4855336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatcatgggcatcctggCtgctaacaggcacttcctgg	8	11	10	12	0	2	0	2	0	0	0	4	0	4	0	2	4	2	4	2	4	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:4855336C>A	ENST00000252318.2	+	6	1422	c.1085C>A	c.(1084-1086)gCt>gAt	p.A362D		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	362	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGCATCCTGGCTGCTAACAGG	0.527													6	56					0.00116845	0.00137597	1	0	A	4855336	C	A	4855336	3	1	339	1	0	0	0	0	1	0	0	0	6268	797	28	4	1107	4	GALNT8	12	4855336	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2914692	4855336	128996559	532	63540											
VWF	7450	broad.mit.edu	37	chr12	6125388	6125388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatcgcacagcaaagccCaaggcatcccctgaggatgg	13	5	11	12	1	0	1	0	1	0	0	2	2	1	2	3	3	2	4	3	3	4	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:6125388C>A	ENST00000261405.5	-	31	5576	c.5322G>T	c.(5320-5322)ttG>ttT	p.L1774F		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1774	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGCAAAGCCCAAGGCATCCC	0.542													5	25					0.014758	0.0159053	1	0	A	6125388	C	A	6125388	3	1	339	1	0	0	0	0	1	0	0	0	17342	593	21	4	3207	4	VWF	12	6125388	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1270052	6125388	127726507	533	63541											
CHD4	1108	broad.mit.edu	37	chr12	6692238	6692238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccttcctctgaagccaCtgagtaatcggactggttgt	9	12	9	11	1	2	2	1	2	1	0	4	3	3	3	3	2	1	2	3	2	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:6692238C>T	ENST00000309577.6	-	26	4349	c.4186G>A	c.(4186-4188)Gtg>Atg	p.V1396M	CHD4_ENST00000544040.1_Missense_Mutation_p.V1361M|CHD4_ENST00000357008.2_Missense_Mutation_p.V1368M|CHD4_ENST00000544484.1_Missense_Mutation_p.V1393M|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_5'UTR			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1368					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCTGAAGCCACTGAGTAATCG	0.502													11	98					0	0	0	0	T	6692238	C	T	6692238	3	4	339	1	0	0	0	0	1	0	0	0	3356	565	20	4	1692	4	CHD4	12	6692238	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	566850	6692238	127159657	534	63542											
CD163L1	283316	broad.mit.edu	37	chr12	7559182	7559182	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcaaaattgacggttcCggaatgtctgcagtcccaaa	13	9	9	10	2	2	1	1	1	1	0	4	2	4	2	2	2	1	2	2	2	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:7559182C>G	ENST00000313599.3	-	5	1090	c.1033G>C	c.(1033-1035)Gga>Cga	p.G345R	CD163L1_ENST00000416109.2_Missense_Mutation_p.G355R|CD163L1_ENST00000396630.1_Missense_Mutation_p.G345R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	345	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGACGGTTCCGGAATGTCTG	0.428													7	50					0	0	0	0	G	7559182	C	G	7559182	3	3	339	1	0	0	0	0	1	0	0	0	2997	661	23	3	3388	3	CD163L1	12	7559182	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	866944	7559182	126292713	535	63543											
FOXJ2	55810	broad.mit.edu	37	chr12	8202111	8202111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccaccagcccctgcccGtattgctgactcctgtgccc	4	8	8	21	2	0	1	0	1	0	0	1	1	1	1	8	0	4	2	8	0	1	2	rs143592450	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:8202111G>A	ENST00000162391.3	+	9	2626	c.1481G>A	c.(1480-1482)cGt>cAt	p.R494H	FOXJ2_ENST00000428177.2_Missense_Mutation_p.R494H	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	494					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GCCCCTGCCCGTATTGCTGAC	0.577													10	28					0	0	0	0	A	8202111	G	A	8202111	3	1	339	1	0	0	0	0	1	0	0	0	6059	1145	40	1	1511	1	FOXJ2	12	8202111	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	642929	8202111	125649784	536	63544											
STYK1	55359	broad.mit.edu	37	chr12	10787181	10787181	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccacacaacttgtcacTgagactgcattccaggagca	12	9	7	13	0	1	1	1	1	0	1	2	3	2	2	2	1	4	2	2	1	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:10787181T>G	ENST00000075503.3	-	3	557	c.37A>C	c.(37-39)Agt>Cgt	p.S13R		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	13						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AACTTGTCACTGAGACTGCAT	0.493										HNSCC(73;0.22)			6	38					0	0	0	0	G	10787181	T	G	10787181	3	3	339	1	0	0	0	0	1	0	0	0	15449	1580	55	5	1267	5	STYK1	12	10787181	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	2585070	10787181	123064714	537	63545											
GRIN2B	2904	broad.mit.edu	37	chr12	13906601	13906601	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggctttgaagtttcttGagctgattctggatcttaga	8	16	12	5	0	3	4	0	3	3	1	3	5	3	5	0	3	1	3	0	3	2	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:13906601G>T	ENST00000279593.3	-	3	869	c.660C>A	c.(658-660)ctC>ctA	p.L220L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	220					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAAGTTTCTTGAGCTGATTCT	0.493													7	73					2.0095e-06	2.90014e-06	1	0	T	13906601	G	T	13906601	2	4	339	1	0	0	0	0	0	0	0	1	6830	1277	45	2		2	GRIN2B	12	13906601	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3119420	13906601	119945294	538	63546											
ART4	420	broad.mit.edu	37	chr12	14993444	14993444	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaactgcaaccagtctcctCttgggtggtagctcatattt	8	14	8	11	0	4	0	2	0	2	0	5	0	4	0	2	2	4	3	2	2	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:14993444C>G	ENST00000228936.4	-	2	1169	c.788G>C	c.(787-789)aGa>aCa	p.R263T	C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	263					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						CCAGTCTCCTCTTGGGTGGTA	0.453													8	51					0	0	0	0	G	14993444	C	G	14993444	3	3	339	1	0	0	0	0	1	0	0	0	1003	913	32	2	164	2	ART4	12	14993444	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1086843	14993444	118858451	539	63547											
PLEKHA5	54477	broad.mit.edu	37	chr12	19436567	19436567	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcaccttcccacgggtcaaTagctgcttatcagggatact	10	11	8	12	1	3	0	3	0	0	0	4	1	4	1	2	2	3	2	2	2	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:19436567T>C	ENST00000538714.1	+	11	1653	c.1649T>C	c.(1648-1650)aTa>aCa	p.I550T	PLEKHA5_ENST00000539256.1_Missense_Mutation_p.I308T|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.I550T|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.I442T|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.I550T|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.I550T|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.I550T|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.I556T|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.I550T|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.I442T	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	550							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CACGGGTCAATAGCTGCTTAT	0.483													8	61					0	0	0	0	C	19436567	T	C	19436567	3	2	339	1	0	0	0	0	1	0	0	0	12131	1406	49	5	1691	5	PLEKHA5	12	19436567	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	4443123	19436567	114415328	540	63548											
SLCO1C1	53919	broad.mit.edu	37	chr12	20876088	20876088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctatatttatgtacaagCactgttcagttcaattctct	10	18	4	9	0	3	0	2	0	1	0	5	0	4	0	1	0	2	4	1	0	6	9			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:20876088C>A	ENST00000381552.1	+	9	1454	c.1086C>A	c.(1084-1086)agC>agA	p.S362R	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S313R|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S244R|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S362R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S362R			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	362					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TATGTACAAGCACTGTTCAGT	0.378													4	51					0.00909568	0.00997907	1	0	A	20876088	C	A	20876088	3	1	339	1	0	0	0	0	1	0	0	0	14813	709	25	4	1116	4	SLCO1C1	12	20876088	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1439521	20876088	112975807	541	63549											
C12orf77	196415	broad.mit.edu	37	chr12	25148769	25148769	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccccaacaggaatctccAtcttgggtttctttttgtaa	9	16	6	10	0	3	0	0	0	3	0	5	1	4	1	3	2	1	2	3	2	4	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:25148769A>G	ENST00000549828.1	-	3	583	c.379T>C	c.(379-381)Tgg>Cgg	p.W127R	C12orf77_ENST00000434912.3_Missense_Mutation_p.W72R|C12orf77_ENST00000549262.1_Missense_Mutation_p.W72R	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	127										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						AGGAATCTCCATCTTGGGTTT	0.413													5	39					0	0	0	0	G	25148769	A	G	25148769	3	3	339	1	0	0	0	0	1	0	0	0	1728	217	8	5	66	5	C12orf77	12	25148769	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	4272681	25148769	108703126	542	63550											
ERGIC2	51290	broad.mit.edu	37	chr12	29514589	29514589	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttattacctctgccactcTttctgctgtggtgaaagatc	7	16	7	11	0	4	2	0	1	4	1	5	2	4	2	2	1	3	1	2	1	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:29514589T>A	ENST00000360150.4	-	6	438	c.363A>T	c.(361-363)aaA>aaT	p.K121N		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	121					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	TCTGCCACTCTTTCTGCTGTG	0.294													6	63					0	0	0	0	A	29514589	T	A	29514589	3	1	339	1	0	0	0	0	1	0	0	0	5262	1606	56	5	806	5	ERGIC2	12	29514589	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	4365820	29514589	104337306	543	63551											
DDX11	1663	broad.mit.edu	37	chr12	31244783	31244783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcacgggcatgcacaGcgtggaggtcagcggctccc	8	5	13	15	3	2	0	2	0	0	0	3	1	3	1	2	4	3	3	2	4	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:31244783G>T	ENST00000407793.2	+	10	1471	c.1220G>T	c.(1219-1221)aGc>aTc	p.S407I	DDX11_ENST00000542838.1_Missense_Mutation_p.S407I|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.S381I|DDX11_ENST00000545668.1_Missense_Mutation_p.S407I|DDX11_ENST00000350437.4_Missense_Mutation_p.S407I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	407	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	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)					GGCATGCACAGCGTGGAGGTC	0.672										Multiple Myeloma(12;0.14)			4	40					0.184627	0.188964	1	0	T	31244783	G	T	31244783	3	4	339	1	0	0	0	0	1	0	0	0	4375	971	34	4	1254	4	DDX11	12	31244783	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1730194	31244783	102607112	544	63552											
CPNE8	144402	broad.mit.edu	37	chr12	39079366	39079366	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttcagactcctgtaataAgcctccatgaccccctcaat	11	11	5	14	0	2	2	2	1	0	1	4	3	4	2	5	0	1	1	5	0	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:39079366A>C	ENST00000331366.5	-	16	1293	c.1197T>G	c.(1195-1197)gcT>gcG	p.A399A	CPNE8_ENST00000360449.3_Silent_p.A387A|CPNE8_ENST00000538596.2_Silent_p.A68A	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	399	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TCCTGTAATAAGCCTCCATGA	0.398													8	74					0	0	0	0	C	39079366	A	C	39079366	2	2	339	1	0	0	0	0	0	0	0	1	3848	59	3	5		5	CPNE8	12	39079366	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	7834583	39079366	94772529	545	63553											
PDZRN4	29951	broad.mit.edu	37	chr12	41966950	41966950	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacagagcagtaaagagtCgacctccaccaaagccaaaa	17	3	9	12	2	0	2	0	0	0	2	2	4	1	3	4	1	2	2	4	1	5	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:41966950C>A	ENST00000298919.7	+	10	1977	c.1589C>A	c.(1588-1590)tCg>tAg	p.S530*	PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.S790*|PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.S532*			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	790							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGTAAAGAGTCGACCTCCACC	0.502													13	102					5.50884e-06	7.74284e-06	1	0	A	41966950	C	A	41966950	4	1	339	1	0	0	0	0	0	1	0	0	11781	893	31	3	2480	3	PDZRN4	12	41966950	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2887584	41966950	91884945	546	63554											
PRICKLE1	144165	broad.mit.edu	37	chr12	42853666	42853666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttcttggattttgttGtcctctgaccaaactgaggg	6	18	9	8	0	3	2	0	2	3	0	4	3	4	3	2	2	1	1	2	2	1	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:42853666G>T	ENST00000455697.1	-	8	2726	c.2441C>A	c.(2440-2442)aCa>aAa	p.T814K	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.T814K|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.T814K|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.T814K|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.T814K|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	814					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGATTTTGTTGTCCTCTGACC	0.428													11	87					1.58986e-06	2.32014e-06	1	0	T	42853666	G	T	42853666	3	4	339	1	0	0	0	0	1	0	0	0	12566	1377	48	4	58	4	PRICKLE1	12	42853666	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	886716	42853666	90998229	547	63555											
NCKAP5L	57701	broad.mit.edu	37	chr12	50191129	50191129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagcgctgggggtggggCggctggggggcctgggcctc	2	6	22	11	2	0	0	0	0	0	0	2	0	1	0	3	9	1	2	3	9	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:50191129C>T	ENST00000335999.6	-	8	715	c.514G>A	c.(514-516)Gcc>Acc	p.A172T		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	168	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGGGGTGGGGCGGCTGGGGGG	0.627													3	11					0	0	0	0	T	50191129	C	T	50191129	3	4	339	1	0	0	0	0	1	0	0	0	10294	768	27	1	3514	1	NCKAP5L	12	50191129	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	7337463	50191129	83660766	548	63556											
RACGAP1	29127	broad.mit.edu	37	chr12	50388083	50388083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcagctcttttactgtgcgGtcacagccagagatcctata	9	13	8	11	1	3	1	2	0	1	1	4	2	4	1	2	1	4	1	2	1	3	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:50388083G>A	ENST00000434422.1	-	13	1471	c.1170C>T	c.(1168-1170)gaC>gaT	p.D390D	RACGAP1_ENST00000454520.2_Silent_p.D390D|RACGAP1_ENST00000312377.5_Silent_p.D390D|RACGAP1_ENST00000547905.1_Silent_p.D390D|RACGAP1_ENST00000551016.1_Silent_p.D390D|RACGAP1_ENST00000427314.2_Silent_p.D390D			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	390	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTACTGTGCGGTCACAGCCAG	0.393													8	69					0	0	0	0	A	50388083	G	A	50388083	2	1	339	1	0	0	0	0	0	0	0	1	13059	1252	44	4		4	RACGAP1	12	50388083	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	196954	50388083	83463812	549	63557											
SMARCD1	6602	broad.mit.edu	37	chr12	50488229	50488229	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctgtccagtgttgacccGaatgatcagaaaaagacagc	13	9	9	10	1	1	4	1	2	0	2	3	5	3	4	3	0	1	1	3	0	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:50488229G>A	ENST00000394963.4	+	10	1541	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	SMARCD1_ENST00000548573.1_Silent_p.P179P|SMARCD1_ENST00000381513.4_Silent_p.P381P	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	381	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|SWIB.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GTGTTGACCCGAATGATCAGA	0.448													6	104					0	0	0	0	A	50488229	G	A	50488229	2	1	339	1	0	0	0	0	0	0	0	1	14865	1045	37	1		1	SMARCD1	12	50488229	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	100146	50488229	83363666	550	63558											
ACVR1B	91	broad.mit.edu	37	chr12	52377833	52377833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctgactatcatgagcacGggtccctgtttgattatctg	7	16	9	9	1	3	3	1	3	2	0	4	3	4	3	1	1	1	2	1	1	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:52377833G>T	ENST00000257963.4	+	5	939	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W	ACVR1B_ENST00000542485.1_Missense_Mutation_p.G236W|ACVR1B_ENST00000426655.2_Missense_Mutation_p.G288W|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000415850.2_Missense_Mutation_p.G288W|ACVR1B_ENST00000541224.1_Missense_Mutation_p.G329W	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	288	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCATGAGCACGGGTCCCTGTT	0.488													4	26					0.00909568	0.00997907	1	0	T	52377833	G	T	52377833	3	4	339	1	0	0	0	0	1	0	0	0	221	1116	39	3	1007	3	ACVR1B	12	52377833	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1889604	52377833	81474062	551	63559											
KRT83	3889	broad.mit.edu	37	chr12	52710790	52710790	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggtgtctgagatgtgggaTtggagaatgcggatctcctg	8	11	17	5	1	2	2	0	1	2	2	3	7	2	4	1	4	1	0	1	4	1	1	rs143202217	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:52710790T>C	ENST00000293670.3	-	5	830	c.768A>G	c.(766-768)caA>caG	p.Q256Q		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	256	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGATGTGGGATTGGAGAATGC	0.522													8	64					0	0	0	0	C	52710790	T	C	52710790	2	2	339	1	0	0	0	0	0	0	0	1	8549	1490	52	5		5	KRT83	12	52710790	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	332957	52710790	81141105	552	63560											
KRT6A	3853	broad.mit.edu	37	chr12	52886474	52886474	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgttgagggtcttgaTctgttcacgctcctcagccc	4	15	10	12	1	4	2	2	2	2	0	5	2	5	2	2	1	1	4	2	1	0	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:52886474T>C	ENST00000330722.6	-	1	567	c.499A>G	c.(499-501)Atc>Gtc	p.I167V		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	167	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGGTCTTGATCTGTTCACGC	0.582													10	76					0	0	0	0	C	52886474	T	C	52886474	3	2	339	1	0	0	0	0	1	0	0	0	8532	1435	50	5	1231	5	KRT6A	12	52886474	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	175684	52886474	80965421	553	63561											
SLC16A7	9194	broad.mit.edu	37	chr12	60169119	60169119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attatatgctgtattttttgGccttggatttgggagtgtta	7	20	11	3	0	0	0	0	0	0	0	0	2	0	2	1	3	1	3	1	3	4	9			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:60169119G>A	ENST00000261187.4	+	4	1207	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	SLC16A7_ENST00000543448.1_Missense_Mutation_p.G249D|SLC16A7_ENST00000547379.1_Missense_Mutation_p.G348D|SLC16A7_ENST00000552432.1_Missense_Mutation_p.G348D|SLC16A7_ENST00000552024.1_Missense_Mutation_p.G348D	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	348						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GTATTTTTTGGCCTTGGATTT	0.458													8	90					0	0	0	0	A	60169119	G	A	60169119	3	1	339	1	0	0	0	0	1	0	0	0	14501	1203	42	4	1053	4	SLC16A7	12	60169119	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	7282645	60169119	73682776	554	63562											
TMEM5	10329	broad.mit.edu	37	chr12	64196035	64196035	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaactccagcatcttgctgTtgttttgctcggaaatgaac	11	13	8	9	1	1	1	0	1	1	0	3	2	2	2	1	1	5	5	1	1	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:64196035T>A	ENST00000261234.6	+	4	751	c.593T>A	c.(592-594)gTt>gAt	p.V198D	TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	198						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CATCTTGCTGTTGTTTTGCTC	0.363													12	49					0	0	0	0	A	64196035	T	A	64196035	3	1	339	1	0	0	0	0	1	0	0	0	16268	1725	60	5	607	5	TMEM5	12	64196035	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	4026916	64196035	69655860	555	63563											
GRIP1	23426	broad.mit.edu	37	chr12	66765603	66765603	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgtttggctgtagtgcggCcgcgagctgctgcgctcctg	2	12	16	11	4	0	0	0	0	0	0	1	1	1	0	2	2	4	7	2	2	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:66765603C>G	ENST00000359742.4	-	23	3123	c.2883G>C	c.(2881-2883)cgG>cgC	p.R961R	GRIP1_ENST00000398016.3_Silent_p.R909R|GRIP1_ENST00000286445.7_Silent_p.R946R			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	961					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGTAGTGCGGCCGCGAGCTGC	0.537													9	80					0	0	0	0	G	66765603	C	G	66765603	2	3	339	1	0	0	0	0	0	0	0	1	6837	726	26	4		4	GRIP1	12	66765603	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2569568	66765603	67086292	556	63564											
IL22	50616	broad.mit.edu	37	chr12	68647178	68647178	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagaaggaggcagctggtGgccagggtccccataaggaa	13	4	16	8	0	0	1	0	0	0	1	1	4	1	3	3	6	1	2	3	6	4	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:68647178G>T	ENST00000538666.1	-	2	121	c.51C>A	c.(49-51)gcC>gcA	p.A17A	IL22_ENST00000328087.4_Silent_p.A17A			Q9GZX6	IL22_HUMAN	interleukin 22	17					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		GGCAGCTGGTGGCCAGGGTCC	0.582													4	38					0.00909568	0.00997907	1	0	T	68647178	G	T	68647178	2	4	339	1	0	0	0	0	0	0	0	1	7725	1335	47	4		4	IL22	12	68647178	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1881575	68647178	65204717	557	63565											
KCNC2	3747	broad.mit.edu	37	chr12	75436912	75436912	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagatgggatgggagatcgAgagcgcctcagaggacaagg	13	5	17	6	2	1	4	1	0	0	4	2	8	1	6	1	4	1	0	1	4	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:75436912A>G	ENST00000549446.1	-	5	2570	c.1890T>C	c.(1888-1890)tcT>tcC	p.S630S	KCNC2_ENST00000540018.1_Silent_p.S575S|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000298972.1_Intron|KCNC2_ENST00000550433.1_Intron|KCNC2_ENST00000548513.1_Intron|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000350228.2_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	630					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TGGGAGATCGAGAGCGCCTCA	0.453													5	48					0	0	0	0	G	75436912	A	G	75436912	2	3	339	1	0	0	0	0	0	0	0	1	8068	291	11	5		5	KCNC2	12	75436912	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	6789734	75436912	58414983	558	63566											
KCNC2	3747	broad.mit.edu	37	chr12	75601341	75601341	+	Missense_Mutation	SNP	C	C	A																															acgtcggtctcgtcgatgccCcagaaggccagctcctcctc																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:75601341C>A	ENST00000549446.1	-	2	1103	c.423G>T	c.(421-423)tgG>tgT	p.W141C	KCNC2_ENST00000540018.1_Missense_Mutation_p.W141C|KCNC2_ENST00000298972.1_Missense_Mutation_p.W141C|KCNC2_ENST00000550433.1_Missense_Mutation_p.W141C|KCNC2_ENST00000548513.1_Missense_Mutation_p.W141C|KCNC2_ENST00000393288.2_Missense_Mutation_p.W141C|KCNC2_ENST00000341669.3_Missense_Mutation_p.W141C|KCNC2_ENST00000350228.2_Missense_Mutation_p.W141C	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	141					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGTCGATGCCCCAGAAGGCCA	0.667													5	18					1.23904e-05	1.68709e-05	1	0	A	75601341	C	A	75601341	3	1	339	1	0	0	0	0	1	0	0	0	8068	624	22	4	1575	4	KCNC2	12	75601341	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	164429	75601341	58250554	559	63567	762	2									
KCNC2	3747	broad.mit.edu	37	chr12	75601342	75601342	+	Missense_Mutation	SNP	C	C	A																															cgtcggtctcgtcgatgcccCagaaggccagctcctcctcg																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:75601342C>A	ENST00000549446.1	-	2	1102	c.422G>T	c.(421-423)tGg>tTg	p.W141L	KCNC2_ENST00000540018.1_Missense_Mutation_p.W141L|KCNC2_ENST00000298972.1_Missense_Mutation_p.W141L|KCNC2_ENST00000550433.1_Missense_Mutation_p.W141L|KCNC2_ENST00000548513.1_Missense_Mutation_p.W141L|KCNC2_ENST00000393288.2_Missense_Mutation_p.W141L|KCNC2_ENST00000341669.3_Missense_Mutation_p.W141L|KCNC2_ENST00000350228.2_Missense_Mutation_p.W141L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	141					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GTCGATGCCCCAGAAGGCCAG	0.672													5	18					1.23904e-05	1.68709e-05	1	0	A	75601342	C	A	75601342	3	1	339	1	0	0	0	0	1	0	0	0	8068	595	21	4	1576	4	KCNC2	12	75601342	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1	75601342	58250553	560	63568	762	2									
OSBPL8	114882	broad.mit.edu	37	chr12	76844736	76844736	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcatctttcctggtgtcaGaagctgagattcgtcactgt	8	14	9	10	1	4	2	3	1	1	2	6	3	5	2	1	1	1	1	1	1	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:76844736G>C	ENST00000261183.3	-	4	591	c.112C>G	c.(112-114)Ctg>Gtg	p.L38V	OSBPL8_ENST00000393249.2_5'UTR|OSBPL8_ENST00000393250.4_5'UTR	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	38					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CCTGGTGTCAGAAGCTGAGAT	0.403													4	32					0	0	0	0	C	76844736	G	C	76844736	3	2	339	1	0	0	0	0	1	0	0	0	11354	933	33	2	2641	2	OSBPL8	12	76844736	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1243394	76844736	57007159	561	63569											
MGAT4C	25834	broad.mit.edu	37	chr12	86373324	86373324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttctgttccagtatttaCtttaattttttttattataa	10	24	2	5	0	2	0	0	0	2	0	3	0	3	0	1	0	1	2	1	0	6	13			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:86373324C>A	ENST00000604798.1	-	8	2384	c.1180G>T	c.(1180-1182)Gta>Tta	p.V394L	MGAT4C_ENST00000393205.2_Missense_Mutation_p.V423L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.V394L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.V394L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.V394L|MGAT4C_ENST00000549405.2_Missense_Mutation_p.V394L			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	394					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCAGTATTTACtttaattttt	0.348													4	29					0.150653	0.155585	1	0	A	86373324	C	A	86373324	3	1	339	1	0	0	0	0	1	0	0	0	9616	565	20	4	260	4	MGAT4C	12	86373324	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	9528588	86373324	47478571	562	63570											
USP44	84101	broad.mit.edu	37	chr12	95927971	95927971	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatttctgagggttgaggCtggaatggtcttgagcaagc	8	11	15	7	0	2	3	0	3	2	0	2	4	2	4	1	4	2	3	1	4	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:95927971C>G	ENST00000258499.3	-	2	350	c.62G>C	c.(61-63)aGc>aCc	p.S21T	USP44_ENST00000537435.2_Missense_Mutation_p.S21T|USP44_ENST00000393091.2_Missense_Mutation_p.S21T|USP44_ENST00000552440.1_Missense_Mutation_p.S21T	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	21					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AGGGTTGAGGCTGGAATGGTC	0.468											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	93					0	0	0	0	G	95927971	C	G	95927971	3	3	339	1	0	0	0	0	1	0	0	0	17171	797	28	4	2096	4	USP44	12	95927971	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	9554647	95927971	37923924	563	63571											
AMDHD1	144193	broad.mit.edu	37	chr12	96350685	96350685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgattgagcgcgcccggCgggagctggacatcggcatc	6	6	17	12	6	0	2	0	2	0	0	2	4	0	4	1	4	2	2	1	4	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:96350685C>T	ENST00000266736.2	+	4	638	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	178					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCGCGCCCGGCGGGAGCTGGA	0.602													13	97					0	0	0	0	T	96350685	C	T	96350685	3	4	339	1	0	0	0	0	1	0	0	0	567	759	27	1	546	1	AMDHD1	12	96350685	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	422714	96350685	37501210	564	63572											
SLC17A8	246213	broad.mit.edu	37	chr12	100797818	100797818	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctttcccttccaggtGggtctcttgtcagcagtccc	3	16	9	13	0	3	0	1	0	2	0	7	0	6	0	3	2	1	2	3	2	0	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:100797818G>T	ENST00000323346.5	+	9	1369	c.1056G>T	c.(1054-1056)gtG>gtT	p.V352V	SLC17A8_ENST00000392989.3_Silent_p.V302V	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	352					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CCTTCCAGGTGGGTCTCTTGT	0.463													5	38					0.014758	0.0159053	1	0	T	100797818	G	T	100797818	2	4	339	1	0	0	0	0	0	0	0	1	14511	1335	47	4		4	SLC17A8	12	100797818	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4447133	100797818	33054077	565	63573											
UTP20	27340	broad.mit.edu	37	chr12	101757447	101757447	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcacgaagaagcaaaagtTacgactcttatgaaatcctc	17	8	7	9	2	1	2	0	1	1	1	3	4	2	2	1	0	3	3	1	0	8	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:101757447T>C	ENST00000261637.4	+	45	6058	c.5884T>C	c.(5884-5886)Tac>Cac	p.Y1962H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1962					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAGCAAAAGTTACGACTCTTA	0.398													6	32					0	0	0	0	C	101757447	T	C	101757447	3	2	339	1	0	0	0	0	1	0	0	0	17195	1754	61	5	6062	5	UTP20	12	101757447	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	959629	101757447	32094448	566	63574											
NUP37	79023	broad.mit.edu	37	chr12	102492909	102492909	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgtgatcgtcactcacacTtgcaatttcttggccttctt	6	16	8	11	1	4	1	2	1	2	0	5	1	4	1	1	2	1	1	1	2	1	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:102492909T>G	ENST00000552283.1	-	5	563	c.424A>C	c.(424-426)Agt>Cgt	p.S142R	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.S142R			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	142					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TCACTCACACTTGCAATTTCT	0.348													5	21					0	0	0	0	G	102492909	T	G	102492909	3	3	339	1	0	0	0	0	1	0	0	0	10835	1609	56	5	580	5	NUP37	12	102492909	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	735462	102492909	31358986	567	63575											
TXNRD1	7296	broad.mit.edu	37	chr12	104712825	104712825	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatttattggtcctcacAggattaaggtaattgtgtga	11	14	11	5	0	1	1	1	1	0	0	2	2	2	2	1	4	0	2	1	4	4	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:104712825A>T	ENST00000526691.1	+	6	1027	c.571A>T	c.(571-573)Agg>Tgg	p.R191W	TXNRD1_ENST00000542918.1_Missense_Mutation_p.R189W|TXNRD1_ENST00000540716.1_Missense_Mutation_p.R101W|TXNRD1_ENST00000529546.1_Missense_Mutation_p.R101W|TXNRD1_ENST00000526950.1_Missense_Mutation_p.R208W|TXNRD1_ENST00000526390.1_Missense_Mutation_p.R183W|TXNRD1_ENST00000525566.1_Missense_Mutation_p.R289W|TXNRD1_ENST00000524698.1_Missense_Mutation_p.R139W|TXNRD1_ENST00000503506.2_Missense_Mutation_p.R139W|TXNRD1_ENST00000429002.2_Missense_Mutation_p.R289W|TXNRD1_ENST00000427956.1_Missense_Mutation_p.R254W|TXNRD1_ENST00000397736.2_Missense_Mutation_p.R183W|TXNRD1_ENST00000388854.3_Missense_Mutation_p.R191W|TXNRD1_ENST00000378070.4_Missense_Mutation_p.R238W|TXNRD1_ENST00000354940.6_Missense_Mutation_p.R139W	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	289					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TGGTCCTCACAGGATTAAGGT	0.348													5	39					0	0	0	0	T	104712825	A	T	104712825	3	4	339	1	0	0	0	0	1	0	0	0	16903	179	7	5	909	5	TXNRD1	12	104712825	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	2219916	104712825	29139070	568	63576											
MTERFD3	80298	broad.mit.edu	37	chr12	107371512	107371512	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgtactgtactatctgTggtgttaattcaagaaccat	11	15	7	8	0	2	1	1	0	1	1	3	1	3	1	2	1	3	3	2	1	6	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:107371512T>A	ENST00000552029.1	-	2	3049	c.981A>T	c.(979-981)ccA>ccT	p.P327P	MTERFD3_ENST00000392830.2_Silent_p.P327P|C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Silent_p.P327P			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTACTATCTGTGGTGTTAATT	0.368													16	114					0	0	0	0	A	107371512	T	A	107371512	2	1	339	1	0	0	0	0	0	0	0	1	9991	1683	59	5		5	MTERFD3	12	107371512	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	2658687	107371512	26480383	569	63577											
MYO1H	283446	broad.mit.edu	37	chr12	109882284	109882284	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtttgaagcagttactaaActcgtcatgctggttaagaa	12	13	10	6	1	1	2	1	1	0	1	2	2	1	2	0	1	4	5	0	1	6	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:109882284A>T	ENST00000310903.5	+	30	3001	c.2895A>T	c.(2893-2895)aaA>aaT	p.K965N	MYO1H_ENST00000431443.2_Missense_Mutation_p.K975N			B4DNW6	B4DNW6_HUMAN	myosin IH	156						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAGTTACTAAACTCGTCATGC	0.428													4	34					0	0	0	0	T	109882284	A	T	109882284	3	4	339	1	0	0	0	0	1	0	0	0	10145	40	2	5	3009	5	MYO1H	12	109882284	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	2510772	109882284	23969611	570	63578											
ATXN2	6311	broad.mit.edu	37	chr12	111948252	111948252	+	Missense_Mutation	SNP	G	G	A																															aggcgtaggagatgcagctgGaataggcatggcaacagctt																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:111948252G>A	ENST00000377617.3	-	12	2334	c.2173C>T	c.(2173-2175)Cca>Tca	p.P725S	ATXN2_ENST00000550104.1_Missense_Mutation_p.P725S|ATXN2_ENST00000389153.4_Missense_Mutation_p.P460S|ATXN2_ENST00000542287.2_Missense_Mutation_p.P460S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P436S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	725	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GATGCAGCTGGAATAGGCATG	0.502													14	108					0	0	0	0	A	111948252	G	A	111948252	3	1	339	1	0	0	0	0	1	0	0	0	1215	1174	41	2	1824	2	ATXN2	12	111948252	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2065968	111948252	21903643	571	63579	763	2									
ATXN2	6311	broad.mit.edu	37	chr12	111948253	111948253	+	Silent	SNP	A	A	T																															ggcgtaggagatgcagctggAataggcatggcaacagcttc																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:111948253A>T	ENST00000377617.3	-	12	2333	c.2172T>A	c.(2170-2172)atT>atA	p.I724I	ATXN2_ENST00000550104.1_Silent_p.I724I|ATXN2_ENST00000389153.4_Silent_p.I459I|ATXN2_ENST00000542287.2_Silent_p.I459I|ATXN2_ENST00000535949.1_Silent_p.I435I	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	724	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ATGCAGCTGGAATAGGCATGG	0.502													14	108					0	0	0	0	T	111948253	A	T	111948253	2	4	339	1	0	0	0	0	0	0	0	1	1215	242	9	5		5	ATXN2	12	111948253	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	1	111948253	21903642	572	63580	763	2									
FBXO21	23014	broad.mit.edu	37	chr12	117612563	117612563	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtctttgaggctgatgTcggagagaggattgcagtac	9	11	16	5	1	1	3	0	2	1	1	2	7	1	6	0	4	2	3	0	4	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:117612563T>C	ENST00000427718.2	-	5	706	c.632A>G	c.(631-633)gAc>gGc	p.D211G	FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000330622.5_Missense_Mutation_p.D211G	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	211					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GAGGCTGATGTCGGAGAGAGG	0.453													7	53					0	0	0	0	C	117612563	T	C	117612563	3	2	339	1	0	0	0	0	1	0	0	0	5778	1667	58	5	1286	5	FBXO21	12	117612563	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	5664310	117612563	16239332	573	63581											
CIT	11113	broad.mit.edu	37	chr12	120128040	120128040	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaaacagcctcccgggggaCcgctctctccgcgtgctgag	6	7	12	16	4	2	1	1	1	1	0	5	2	4	2	4	2	3	2	4	2	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:120128040C>G	ENST00000392521.2	-	47	6157	c.6102G>C	c.(6100-6102)cgG>cgC	p.R2034R	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.R1992R	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1992					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCCCGGGGGACCGCTCTCTCC	0.706													4	10					0	0	0	0	G	120128040	C	G	120128040	2	3	339	1	0	0	0	0	0	0	0	1	3468	494	18	4		4	CIT	12	120128040	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2515477	120128040	13723855	574	63582											
TMEM132D	121256	broad.mit.edu	37	chr12	130184735	130184735	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagctggacaggagctcCagctcggccacgcacagccc	10	3	11	17	2	0	0	0	0	0	0	2	2	1	2	4	3	5	4	4	3	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:130184735C>G	ENST00000422113.2	-	2	914	c.588G>C	c.(586-588)ctG>ctC	p.L196L		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	196						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACAGGAGCTCCAGCTCGGCCA	0.692													6	24					0	0	0	0	G	130184735	C	G	130184735	2	3	339	1	0	0	0	0	0	0	0	1	16141	581	21	4		4	TMEM132D	12	130184735	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	10056695	130184735	3667160	575	63583											
RNF17	56163	broad.mit.edu	37	chr13	25341455	25341455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgctttttgtgaactatGcttgttaatgactgaagaat	12	16	8	5	0	0	4	0	3	0	1	0	4	0	4	0	0	3	3	0	0	5	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:25341455G>T	ENST00000255324.5	+	2	228	c.176G>T	c.(175-177)tGc>tTc	p.C59F	RNF17_ENST00000255325.5_Missense_Mutation_p.C59F|RNF17_ENST00000381921.1_Missense_Mutation_p.C59F|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	59					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)		TGTGAACTATGCTTGTTAATG	0.318													8	43					0.000274275	0.000339596	1	0	T	25341455	G	T	25341455	3	4	339	1	0	0	0	0	1	0	0	0	13546	1319	46	4	182	4	RNF17	13	25341455	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08		25341455	89828423	576	63584											
RNF17	56163	broad.mit.edu	37	chr13	25435502	25435502	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccagttttgtattcctTgtcagctccataataccaca	10	14	4	13	0	1	0	1	0	0	0	3	0	3	0	5	0	3	3	5	0	4	8			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:25435502T>C	ENST00000255324.5	+	27	3923	c.3871T>C	c.(3871-3873)Tgt>Cgt	p.C1291R	RNF17_ENST00000339524.3_Missense_Mutation_p.C343R|RNF17_ENST00000381921.1_Missense_Mutation_p.C1291R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1291					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)		TTGTATTCCTTGTCAGCTCCA	0.299													20	86					0	0	0	0	C	25435502	T	C	25435502	3	2	339	1	0	0	0	0	1	0	0	0	13546	1812	63	5	3977	5	RNF17	13	25435502	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	94047	25435502	89734376	577	63585											
PABPC3	5042	broad.mit.edu	37	chr13	25670479	25670479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatctgcagggacttgatcaCcagcggctcctccaactacg	9	8	10	14	2	2	1	1	1	1	0	4	3	4	2	3	2	4	2	3	2	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:25670479C>G	ENST00000281589.3	+	1	180	c.143C>G	c.(142-144)aCc>aGc	p.T48S		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	48	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GACTTGATCACCAGCGGCTCC	0.572													5	49					0	0	0	0	G	25670479	C	G	25670479	3	3	339	1	0	0	0	0	1	0	0	0	11436	507	18	4	145	4	PABPC3	13	25670479	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	234977	25670479	89499399	578	63586											
MTUS2	23281	broad.mit.edu	37	chr13	29599464	29599464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcacggggtcagatacCtgggggtggggaggggccac	8	4	21	8	1	1	1	1	0	0	1	1	3	1	3	2	9	2	1	2	9	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:29599464C>A	ENST00000431530.3	+	1	717	c.659C>A	c.(658-660)cCt>cAt	p.P220H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	210						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGTCAGATACCTGGGGGTGGG	0.602													4	37					1	1	1	0	A	29599464	C	A	29599464	3	1	339	1	0	0	0	0	1	0	0	0	10036	681	24	4	661	4	MTUS2	13	29599464	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3928985	29599464	85570414	579	63587											
BRCA2	675	broad.mit.edu	37	chr13	32968936	32968936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcatatgttaattgctgcaAgcaacctccagtggcgacca	11	10	8	12	1	1	0	1	0	0	0	2	1	2	0	3	1	4	4	3	1	4	3	rs80359208		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:32968936A>G	ENST00000544455.1	+	25	9594	c.9367A>G	c.(9367-9369)Agc>Ggc	p.S3123G	BRCA2_ENST00000380152.3_Missense_Mutation_p.S3123G	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3123					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AATTGCTGCAAGCAACCTCCA	0.388			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			6	35					0	0	0	0	G	32968936	A	G	32968936	3	3	339	1	0	0	0	0	1	0	0	0	1507	72	3	5	9461	5	BRCA2	13	32968936	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	3369472	32968936	82200942	580	63588											
KL	9365	broad.mit.edu	37	chr13	33638153	33638153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaatggtttcccgggcccaGaaactctggaaagattttgt	10	11	11	9	1	1	2	0	0	1	2	2	3	2	3	2	3	1	2	2	3	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:33638153G>A	ENST00000380099.3	+	5	2877	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	957					aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCGGGCCCAGAAACTCTGGA	0.428													12	68					0	0	0	0	A	33638153	G	A	33638153	3	1	339	1	0	0	0	0	1	0	0	0	8383	943	33	2	2887	2	KL	13	33638153	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	669217	33638153	81531725	581	63589											
NBEA	26960	broad.mit.edu	37	chr13	35517223	35517223	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcggagaggtcagcaacaGggacatcgtggagacggtgc	10	5	18	8	3	1	2	1	0	0	2	3	5	1	3	0	6	3	1	0	6	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:35517223G>C	ENST00000400445.3	+	1	800	c.266G>C	c.(265-267)aGg>aCg	p.R89T	NBEA_ENST00000379939.2_Missense_Mutation_p.R89T|NBEA_ENST00000540320.1_Missense_Mutation_p.R89T|NBEA_ENST00000310336.4_Missense_Mutation_p.R89T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	89						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTCAGCAACAGGGACATCGTG	0.577													6	66					0	0	0	0	C	35517223	G	C	35517223	3	2	339	1	0	0	0	0	1	0	0	0	10257	1000	35	4	268	4	NBEA	13	35517223	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1879070	35517223	79652655	582	63590											
NBEA	26960	broad.mit.edu	37	chr13	35733267	35733267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgagcaccatctctggtCtttcatcacagacaacagga	12	10	8	11	0	4	2	2	1	2	1	5	3	4	3	1	2	2	1	1	2	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:35733267C>A	ENST00000400445.3	+	22	3493	c.2959C>A	c.(2959-2961)Ctt>Att	p.L987I	NBEA_ENST00000379939.2_Missense_Mutation_p.L987I|NBEA_ENST00000540320.1_Missense_Mutation_p.L987I|NBEA_ENST00000310336.4_Missense_Mutation_p.L987I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	987						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CATCTCTGGTCTTTCATCACA	0.413													8	41					5.18039e-06	7.32621e-06	1	0	A	35733267	C	A	35733267	3	1	339	1	0	0	0	0	1	0	0	0	10257	913	32	2	3045	2	NBEA	13	35733267	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	216044	35733267	79436611	583	63591											
FREM2	341640	broad.mit.edu	37	chr13	39446936	39446936	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctctgtatgtttcctacGtgttccattcccccgtgggg	3	15	9	14	2	1	0	0	0	1	0	5	0	5	0	5	2	1	3	5	2	2	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:39446936G>C	ENST00000280481.7	+	17	8257	c.8041G>C	c.(8041-8043)Gtg>Ctg	p.V2681L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2681					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTTTCCTACGTGTTCCATTC	0.458													5	39					0	0	0	0	C	39446936	G	C	39446936	3	2	339	1	0	0	0	0	1	0	0	0	6093	1145	40	3	8107	3	FREM2	13	39446936	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3713669	39446936	75722942	584	63592											
FREM2	341640	broad.mit.edu	37	chr13	39451320	39451320	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctctctaagaagagtCtctggttgtctgatggatcc	8	13	10	10	0	3	3	0	1	3	2	6	4	4	4	2	2	1	2	2	2	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:39451320C>A	ENST00000280481.7	+	21	8827	c.8611C>A	c.(8611-8613)Ctc>Atc	p.L2871I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2871					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TAAGAAGAGTCTCTGGTTGTC	0.433													18	138					1.99824e-07	3.0524e-07	1	0	A	39451320	C	A	39451320	3	1	339	1	0	0	0	0	1	0	0	0	6093	913	32	2	8693	2	FREM2	13	39451320	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	4384	39451320	75718558	585	63593											
AKAP11	11215	broad.mit.edu	37	chr13	42877762	42877762	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaaaatttagcagccgctAtcagaaatctaggatttttc	13	13	6	9	1	2	1	1	0	1	1	4	2	3	2	2	1	2	2	2	1	6	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:42877762A>G	ENST00000025301.2	+	8	5055	c.4880A>G	c.(4879-4881)tAt>tGt	p.Y1627C		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1627					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGCAGCCGCTATCAGAAATCT	0.418													9	87					0	0	0	0	G	42877762	A	G	42877762	3	3	339	1	0	0	0	0	1	0	0	0	447	449	16	5	4902	5	AKAP11	13	42877762	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	3426442	42877762	72292116	586	63594											
ZC3H13	23091	broad.mit.edu	37	chr13	46562942	46562942	+	Missense_Mutation	SNP	C	C	G																															cttccctcctttcatggcgtCgatcatgagactgtgaagtt																								rs144528347		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:46562942C>G	ENST00000242848.4	-	9	1583	c.1235G>C	c.(1234-1236)cGa>cCa	p.R412P	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R412P			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	412	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTCATGGCGTCGATCATGAGA	0.423													4	27					0	0	0	0	G	46562942	C	G	46562942	3	3	339	1	0	0	0	0	1	0	0	0	17660	884	31	3	3495	3	ZC3H13	13	46562942	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3685180	46562942	68606936	587	63595	764	2									
ZC3H13	23091	broad.mit.edu	37	chr13	46562943	46562943	+	Nonsense_Mutation	SNP	G	G	A																															ttccctcctttcatggcgtcGatcatgagactgtgaagttc																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:46562943G>A	ENST00000242848.4	-	9	1582	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R412*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	412	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCATGGCGTCGATCATGAGAC	0.423													4	27					0	0	0	0	A	46562943	G	A	46562943	4	1	339	1	0	0	0	0	0	1	0	0	17660	1066	37	1	3496	1	ZC3H13	13	46562943	Nonsense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1	46562943	68606935	588	63596	764	2									
HTR2A	3356	broad.mit.edu	37	chr13	47409465	47409465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggactgcatagtcctcctgCctgtgtaggaccctggctcc	5	11	11	14	0	0	0	0	0	0	0	3	2	3	2	5	3	2	3	5	3	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:47409465C>G	ENST00000378688.4	-	3	1054	c.923G>C	c.(922-924)gGc>gCc	p.G308A	HTR2A_ENST00000543956.1_Missense_Mutation_p.G224A|HTR2A_ENST00000542664.1_Missense_Mutation_p.G308A			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	308					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGTCCTCCTGCCTGTGTAGGA	0.517													11	33					0	0	0	0	G	47409465	C	G	47409465	3	3	339	1	0	0	0	0	1	0	0	0	7494	739	26	4	496	4	HTR2A	13	47409465	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	846522	47409465	67760413	589	63597											
PCDH17	27253	broad.mit.edu	37	chr13	58206756	58206756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaacctcaactactccgtgCcggaggagcaaggggccggc	10	4	14	13	3	1	1	1	0	0	1	2	3	2	3	4	5	5	1	4	5	4	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:58206756C>A	ENST00000377918.3	+	1	102	c.76C>A	c.(76-78)Ccg>Acg	p.P26T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	26	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTACTCCGTGCCGGAGGAGCA	0.642													3	21					0.115264	0.120258	1	0	A	58206756	C	A	58206756	3	1	339	1	0	0	0	0	1	0	0	0	11583	739	26	4	78	4	PCDH17	13	58206756	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	10797291	58206756	56963122	590	63598											
PCDH17	27253	broad.mit.edu	37	chr13	58208088	58208088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagacgagaacgacaacccgCctcggttcaccaaagggctc	12	5	10	14	4	1	2	1	0	0	2	3	4	1	2	3	2	2	2	3	2	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:58208088C>A	ENST00000377918.3	+	1	1434	c.1408C>A	c.(1408-1410)Cct>Act	p.P470T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	470	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGACAACCCGCCTCGGTTCAC	0.612													4	25					0.00909568	0.00997907	1	0	A	58208088	C	A	58208088	3	1	339	1	0	0	0	0	1	0	0	0	11583	739	26	4	1410	4	PCDH17	13	58208088	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1332	58208088	56961790	591	63599											
PCDH17	27253	broad.mit.edu	37	chr13	58299101	58299101	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagccttgcacctcaacaaaAggctccctggatggctgtga	10	8	11	12	0	1	1	1	1	0	0	2	3	2	2	3	3	3	3	3	3	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:58299101A>T	ENST00000377918.3	+	4	3179	c.3153A>T	c.(3151-3153)aaA>aaT	p.K1051N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1051					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTCAACAAAAGGCTCCCTGG	0.537													8	60					0	0	0	0	T	58299101	A	T	58299101	3	4	339	1	0	0	0	0	1	0	0	0	11583	69	3	5	3167	5	PCDH17	13	58299101	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	91013	58299101	56870777	592	63600											
PCDH20	64881	broad.mit.edu	37	chr13	61986079	61986079	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagaggagagggcaggctcaCccccatcaacagcttcaacc	12	5	10	14	0	3	2	3	0	0	2	3	3	3	2	3	3	3	3	3	3	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:61986079C>G	ENST00000409186.1	-	5	4258	c.2153G>C	c.(2152-2154)gGt>gCt	p.G718A	PCDH20_ENST00000409204.4_Missense_Mutation_p.G718A			Q8N6Y1	PCD20_HUMAN	protocadherin 20	691					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGCAGGCTCACCCCCATCAAC	0.433													13	75					0	0	0	0	G	61986079	C	G	61986079	3	3	339	1	0	0	0	0	1	0	0	0	11586	507	18	4	706	4	PCDH20	13	61986079	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3686978	61986079	53183799	593	63601											
KLHL1	57626	broad.mit.edu	37	chr13	70549780	70549780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtatctttcggttcccaaCaatcaggataacatcacaaa	15	10	6	10	1	3	0	2	0	1	0	5	1	4	1	1	3	2	2	1	3	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:70549780C>A	ENST00000377844.4	-	2	1411	c.652G>T	c.(652-654)Gtt>Ttt	p.V218F	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	218	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CGGTTCCCAACAATCAGGATA	0.418													9	53					0.00448238	0.00512672	1	0	A	70549780	C	A	70549780	3	1	339	1	0	0	0	0	1	0	0	0	8417	478	17	4	1634	4	KLHL1	13	70549780	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	8563701	70549780	44620098	594	63602											
MYCBP2	23077	broad.mit.edu	37	chr13	77754439	77754439	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaagcttgtcatccctgaGatattctcttcactctgcga	8	13	8	12	2	4	1	2	1	2	1	6	4	5	2	1	1	2	1	1	1	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:77754439G>T	ENST00000407578.2	-	34	5222	c.4956C>A	c.(4954-4956)atC>atA	p.I1652I	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.I1614I|MYCBP2_ENST00000544440.2_Silent_p.I1614I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCATCCCTGAGATATTCTCTT	0.393													8	63					1.26484e-09	2.05201e-09	1	0	T	77754439	G	T	77754439	2	4	339	1	0	0	0	0	0	0	0	1	10088	932	33	2		2	MYCBP2	13	77754439	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	7204659	77754439	37415439	595	63603											
GPC5	2262	broad.mit.edu	37	chr13	92345617	92345617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttgtaaacagattttttGacagtctttttcctctggtc	9	19	6	7	0	2	2	0	1	2	1	4	2	3	2	1	1	1	1	1	1	3	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:92345617G>A	ENST00000377067.3	+	3	874	c.502G>A	c.(502-504)Gac>Aac	p.D168N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	168						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGATTTTTTGACAGTCTTTT	0.468													11	61					0	0	0	0	A	92345617	G	A	92345617	3	1	339	1	0	0	0	0	1	0	0	0	6650	1290	45	2	512	2	GPC5	13	92345617	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	14591178	92345617	22824261	596	63604											
NALCN	259232	broad.mit.edu	37	chr13	101717900	101717900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaacttgacgcggaacGtggggatcaccccctgcggg	8	5	16	12	4	1	1	1	1	0	0	1	4	1	4	2	5	3	1	2	5	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:101717900G>T	ENST00000251127.6	-	40	4541	c.4460C>A	c.(4459-4461)aCg>aAg	p.T1487K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1487						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GACGCGGAACGTGGGGATCAC	0.517													6	42					2.0095e-06	2.90014e-06	1	0	T	101717900	G	T	101717900	3	4	339	1	0	0	0	0	1	0	0	0	10218	1145	40	3	776	3	NALCN	13	101717900	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	9372283	101717900	13451978	597	63605											
ITGBL1	9358	broad.mit.edu	37	chr13	102359162	102359162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagaggatggtttggaaagCtctgccaacatccgcggaag	12	7	14	8	2	1	1	0	0	1	1	2	5	2	4	2	4	3	2	2	4	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:102359162C>T	ENST00000376180.3	+	9	1408	c.1189C>T	c.(1189-1191)Ctc>Ttc	p.L397F	ITGBL1_ENST00000376162.3_Missense_Mutation_p.L304F|ITGBL1_ENST00000545560.2_Missense_Mutation_p.L256F	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	397	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTTTGGAAAGCTCTGCCAACA	0.493													4	46					0	0	0	0	T	102359162	C	T	102359162	3	4	339	1	0	0	0	0	1	0	0	0	7955	797	28	4	1223	4	ITGBL1	13	102359162	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	641262	102359162	12810716	598	63606											
FAM155A	728215	broad.mit.edu	37	chr13	108518289	108518289	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacgaaaggtaaaaatccGacaagttccagagcggagtg	18	5	11	7	3	0	1	0	0	0	1	2	4	2	2	2	2	2	2	2	2	7	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:108518289G>T	ENST00000375915.2	-	1	794	c.656C>A	c.(655-657)tCg>tAg	p.S219*		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	219						integral to membrane	binding	p.S219L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTAAAAATCCGACAAGTTCCA	0.577													10	71					1.76689e-08	2.78743e-08	1	0	T	108518289	G	T	108518289	4	4	339	1	0	0	0	0	0	1	0	0	5506	1059	37	3	732	3	FAM155A	13	108518289	Nonsense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	6159127	108518289	6651589	599	63607											
OR4Q3	441669	broad.mit.edu	37	chr14	20216276	20216276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccctgagaacacacttCtgccagggccagaacaaggt	13	6	9	13	0	2	2	1	1	1	2	2	3	2	2	3	2	3	0	3	2	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:20216276C>A	ENST00000331723.1	+	1	690	c.690C>A	c.(688-690)ttC>ttA	p.F230L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAACACACTTCTGCCAGGGCC	0.488													7	88					0.00198382	0.00229771	1	0	A	20216276	C	A	20216276	3	1	339	1	0	0	0	0	1	0	0	0	11152	912	32	2	692	2	OR4Q3	14	20216276	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08		20216276	87133264	600	63608											
OR4M1	441670	broad.mit.edu	37	chr14	20249052	20249052	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccggattgcctgtgccAacaccttcccagaggagtta	8	11	10	12	1	0	1	0	0	0	1	2	3	2	3	5	2	3	1	5	2	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:20249052A>G	ENST00000315957.4	+	1	652	c.571A>G	c.(571-573)Aac>Gac	p.N191D		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCCTGTGCCAACACCTTCCC	0.473													22	200					0	0	0	0	G	20249052	A	G	20249052	3	3	339	1	0	0	0	0	1	0	0	0	11146	130	5	5	573	5	OR4M1	14	20249052	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	32776	20249052	87100488	601	63609											
RALGAPA1	253959	broad.mit.edu	37	chr14	36008849	36008849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccaggtcagccccatctaCctgcgttgctgtgggagttt	5	11	13	12	1	2	0	1	0	1	0	2	1	2	1	4	3	4	3	4	3	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:36008849C>T	ENST00000307138.6	-	40	6619	c.6151G>A	c.(6151-6153)Gta>Ata	p.V2051I	RALGAPA1_ENST00000382366.3_3'UTR|RALGAPA1_ENST00000258840.6_3'UTR|RALGAPA1_ENST00000389698.3_3'UTR	NM_194301.2	NP_919277.2	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	0					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCCATCTACCTGCGTTGCT	0.522													6	57					0	0	0	0	T	36008849	C	T	36008849	3	4	339	1	0	0	0	0	1	0	0	0	13095	507	18	4	104	4	RALGAPA1	14	36008849	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	15759797	36008849	71340691	602	63610											
LRFN5	145581	broad.mit.edu	37	chr14	42360920	42360920	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcttcagaaacttgttCgagtcaggactcctctacca	11	12	6	12	1	5	1	3	0	2	1	7	3	6	2	2	1	2	1	2	1	3	4	rs143897378		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:42360920C>A	ENST00000298119.4	+	4	3042	c.1853C>A	c.(1852-1854)tCg>tAg	p.S618*	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	618						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GAAACTTGTTCGAGTCAGGAC	0.488										HNSCC(30;0.082)			3	28					0.004672	0.00530382	1	0	A	42360920	C	A	42360920	4	1	339	1	0	0	0	0	0	1	0	0	9005	893	31	3	1859	3	LRFN5	14	42360920	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	6352071	42360920	64988620	603	63611											
FSCB	84075	broad.mit.edu	37	chr14	44976261	44976261	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggctgattagagtcatcaCtttcttccatttctaagagt	10	16	7	8	0	4	3	2	1	2	2	5	3	5	3	1	1	0	1	1	1	3	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:44976261C>T	ENST00000340446.4	-	0	221					NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein							cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGAGTCATCACTTTCTTCCAT	0.373													11	46					0	0	0	0	T	44976261	C	T	44976261	1	4	339	1	0	0	0	0	0	0	0	0	6114	580	20	4		4	FSCB	14	44976261	Translation_Start_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2615341	44976261	62373279	604	63612											
MDGA2	161357	broad.mit.edu	37	chr14	47530580	47530580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaagtttgttgttcccGgagagacatcaggatcagtc	9	12	11	9	1	2	1	2	0	0	1	5	4	4	3	2	2	0	3	2	2	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:47530580G>A	ENST00000426342.1	-	7	1249	c.503C>T	c.(502-504)cCg>cTg	p.P168L	MDGA2_ENST00000439988.2_Missense_Mutation_p.P397L|MDGA2_ENST00000357362.3_Missense_Mutation_p.P168L|MDGA2_ENST00000399232.2_Missense_Mutation_p.P466L	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	397	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGTTGTTCCCGGAGAGACATC	0.413													8	76					0	0	0	0	A	47530580	G	A	47530580	3	1	339	1	0	0	0	0	1	0	0	0	9476	1116	39	1	1724	1	MDGA2	14	47530580	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2554319	47530580	59818960	605	63613											
TRIM9	114088	broad.mit.edu	37	chr14	51446241	51446241	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaggaggaccccaattgtgGccccttttgtgatccctccc	6	10	10	15	1	0	1	0	1	0	0	2	4	2	3	6	3	0	0	6	3	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:51446241G>T	ENST00000298355.3	-	9	3055	c.1934C>A	c.(1933-1935)gCc>gAc	p.A645D	TRIM9_ENST00000338969.5_Missense_Mutation_p.A726D	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	645	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CCCAATTGTGGCCCCTTTTGT	0.443													13	81					2.27111e-07	3.45194e-07	1	0	T	51446241	G	T	51446241	3	4	339	1	0	0	0	0	1	0	0	0	16644	1203	42	4	206	4	TRIM9	14	51446241	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3915661	51446241	55903299	606	63614											
PTGDR	5729	broad.mit.edu	37	chr14	52734927	52734927	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcactggagtgctggcTctccctagggcaccctttct	5	11	11	14	0	2	0	0	0	2	0	3	1	2	1	2	4	1	4	2	4	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:52734927T>G	ENST00000306051.2	+	1	497	c.395T>G	c.(394-396)cTc>cGc	p.L132R	PTGDR_ENST00000553372.1_Missense_Mutation_p.L132R	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	132						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GAGTGCTGGCTCTCCCTAGGG	0.622													9	67					0	0	0	0	G	52734927	T	G	52734927	3	3	339	1	0	0	0	0	1	0	0	0	12820	1551	54	5	397	5	PTGDR	14	52734927	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	1288686	52734927	54614613	607	63615											
PCNX	22990	broad.mit.edu	37	chr14	71542912	71542912	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttcatgttagggtatcAtttattatgttacgacctcg	8	18	8	7	2	2	0	2	0	0	0	3	1	2	0	1	1	1	4	1	1	5	8			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:71542912A>G	ENST00000304743.2	+	28	5559	c.5113A>G	c.(5113-5115)Att>Gtt	p.I1705V	PCNX_ENST00000439984.3_Missense_Mutation_p.I1594V|PCNX_ENST00000238570.5_Missense_Mutation_p.I1633V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1705						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTAGGGTATCATTTATTATGT	0.328													4	42					0	0	0	0	G	71542912	A	G	71542912	3	3	339	1	0	0	0	0	1	0	0	0	11662	217	8	5	5223	5	PCNX	14	71542912	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	18807985	71542912	35806628	608	63616											
ACOT6	641372	broad.mit.edu	37	chr14	74086131	74086131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaggaaaagtaaaaatcaCtaagtcaggatttctcactt	16	12	6	7	0	4	0	3	0	2	0	5	2	4	2	0	2	0	1	0	2	7	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:74086131C>T	ENST00000381139.1	+	2	543	c.212C>T	c.(211-213)aCt>aTt	p.T71I	RP3-414A15.10_ENST00000555011.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	71						cytosol	carboxylesterase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GTAAAAATCACTAAGTCAGGA	0.413													9	56					0	0	0	0	T	74086131	C	T	74086131	3	4	339	1	0	0	0	0	1	0	0	0	154	565	20	4	218	4	ACOT6	14	74086131	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2543219	74086131	33263409	609	63617											
PPP4R4	57718	broad.mit.edu	37	chr14	94700898	94700898	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttctccccaccttcaGcattaagcgagaaatacttc	10	14	4	13	1	3	1	1	0	2	1	5	2	3	1	3	0	3	1	3	0	3	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:94700898G>T	ENST00000304338.3	+	7	777		c.e7-1			NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4							cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCCACCTTCAGCATTAAGCGA	0.333													4	19					0.00909568	0.00997907	1	0	T	94700898	G	T	94700898	5	4	339	1	0	0	0	0	0	0	1	0	12481	985	34	4	722	4	PPP4R4	14	94700898	Splice_Site	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	20614767	94700898	12648642	610	63618											
SERPINA12	145264	broad.mit.edu	37	chr14	94964292	94964292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcatcttccaaaaacttaCgctgtggctgcagcctctgg	8	11	10	12	1	2	0	0	0	2	0	3	0	3	0	2	3	4	4	2	3	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:94964292C>G	ENST00000341228.2	-	3	1238	c.443G>C	c.(442-444)cGt>cCt	p.R148P	SERPINA12_ENST00000556881.1_Missense_Mutation_p.R148P	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	148					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CAAAAACTTACGCTGTGGCTG	0.468													7	72					0	0	0	0	G	94964292	C	G	94964292	3	3	339	1	0	0	0	0	1	0	0	0	14176	536	19	3	817	3	SERPINA12	14	94964292	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	263394	94964292	12385248	611	63619											
BDKRB1	623	broad.mit.edu	37	chr14	96730474	96730474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggaggcagcagcggcggaGgcaggcccgggtcacctgcg	6	2	19	14	5	1	0	1	0	0	0	1	2	1	2	3	7	3	3	3	7	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:96730474G>A	ENST00000216629.6	+	3	1061	c.455G>A	c.(454-456)aGg>aAg	p.R152K	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.R152K	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	152					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CAGCGGCGGAGGCAGGCCCGG	0.637													7	40					0	0	0	0	A	96730474	G	A	96730474	3	1	339	1	0	0	0	0	1	0	0	0	1396	1000	35	4	457	4	BDKRB1	14	96730474	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1766182	96730474	10619066	612	63620											
AHNAK2	113146	broad.mit.edu	37	chr14	105410568	105410569	+	Frame_Shift_Del	DEL	CT	CT	-																															ttggggcccttgatgtccacCtgggggcccttgaggtccac																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:105410568_105410569delCT	ENST00000333244.5	-	7	11338_11339	c.11219_11220delAG	c.(11218-11220)cfs	p.Q3740fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3740						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGATGTCCACCTGGGGGCCCTT	0.634													25	158	---	---	---	---					-	105410569	CT	-	105410568	7	5	339	1	0	1	0	1	0	0	0	0	415	680	24	0	6171	0	AHNAK2	14	105410568	Frame_Shift_Del	DEL	CT	TCGA-CV-A45Z-01A-21D-A25D-08	8680094	105410568	1938972	613	63621											
NIPA2	81614	broad.mit.edu	37	chr15	23006585	23006585	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagtgttgaatatatccAgggccctatttaggtaatta	12	14	10	5	0	0	1	0	1	0	0	1	2	1	2	2	3	0	2	2	3	8	8			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:23006585A>T	ENST00000337451.3	-	8	1331	c.719T>A	c.(718-720)cTg>cAg	p.L240Q	NIPA2_ENST00000359727.4_Missense_Mutation_p.L221Q|NIPA2_ENST00000398013.3_Missense_Mutation_p.L240Q|NIPA2_ENST00000398014.2_Missense_Mutation_p.L240Q|NIPA2_ENST00000539711.2_Missense_Mutation_p.L221Q	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	240						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GAATATATCCAGGGCCCTATT	0.423													11	119					0	0	0	0	T	23006585	A	T	23006585	3	4	339	1	0	0	0	0	1	0	0	0	10493	188	7	5	367	5	NIPA2	15	23006585	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08		23006585	79524807	614	63622											
SNURF	8926	broad.mit.edu	37	chr15	25207307	25207307	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaacagcacgtaccagagGtggaagtccaagtcaaacgc	15	4	11	11	2	1	2	1	0	0	2	2	3	2	3	2	2	4	2	2	2	5	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:25207307G>C	ENST00000338094.6	+	2	122	c.61G>C	c.(61-63)Gtg>Ctg	p.V21L	SNRPN_ENST00000390687.4_5'UTR|SNURF_ENST00000577949.1_Missense_Mutation_p.V21L|SNRPN_ENST00000346403.6_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.V21L|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		CGTACCAGAGGTGGAAGTCCA	0.453													4	30					0	0	0	0	C	25207307	G	C	25207307	3	2	339	1	0	0	0	0	1	0	0	0	14966	1261	44	4	67	4	SNURF	15	25207307	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2200722	25207307	77324085	615	63623											
GABRG3	2567	broad.mit.edu	37	chr15	27222233	27222233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaatcccaagacaccgaCgtgactcttattctcaacaa	15	8	4	14	2	2	2	1	1	2	1	4	3	3	2	3	0	1	0	3	0	6	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:27222233C>A	ENST00000333743.6	+	2	392	c.138C>A	c.(136-138)gaC>gaA	p.D46E	GABRG3_ENST00000555083.1_Missense_Mutation_p.D46E	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	46					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AAGACACCGACGTGACTCTTA	0.383													9	44					3.09899e-07	4.66377e-07	1	0	A	27222233	C	A	27222233	3	1	339	1	0	0	0	0	1	0	0	0	6221	535	19	3	144	3	GABRG3	15	27222233	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2014926	27222233	75309159	616	63624											
RYR3	6263	broad.mit.edu	37	chr15	33878308	33878308	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgttggataagcacgggcgGaatcacaaggtaggtgtgga	11	8	16	6	2	1	0	1	0	0	0	1	3	1	3	0	6	1	3	0	6	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:33878308G>T	ENST00000389232.4	+	16	1849	c.1779G>T	c.(1777-1779)cgG>cgT	p.R593R	RYR3_ENST00000415757.3_Silent_p.R593R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	593	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCACGGGCGGAATCACAAGG	0.463													3	22					6.4e-05	8.32002e-05	1	0	T	33878308	G	T	33878308	2	4	339	1	0	0	0	0	0	0	0	1	13855	1161	41	2		2	RYR3	15	33878308	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	6656075	33878308	68653084	617	63625											
GJD2	57369	broad.mit.edu	37	chr15	35045322	35045322	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaggaagactgtagagtagCggcgttctcgctgcttggcg	7	10	15	9	4	1	2	0	0	1	2	2	3	1	3	0	3	2	5	0	3	4	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:35045322C>A	ENST00000290374.4	-	2	799	c.323G>T	c.(322-324)cGc>cTc	p.R108L		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	108					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGTAGAGTAGCGGCGTTCTCG	0.572													10	75					1.76689e-08	2.78743e-08	1	0	A	35045322	C	A	35045322	3	1	339	1	0	0	0	0	1	0	0	0	6468	768	27	3	646	3	GJD2	15	35045322	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1167014	35045322	67486070	618	63626											
C15orf54	400360	broad.mit.edu	37	chr15	39544644	39544644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaactatatggagaagtcaTaaacaaagaaacagacaacc	21	5	6	9	0	1	3	1	0	0	3	1	4	1	3	2	1	4	0	2	1	9	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:39544644T>C	ENST00000318578.3	+	2	676	c.308T>C	c.(307-309)aTa>aCa	p.I103T	RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.I103T	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	103										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGAGAAGTCATAAACAAAGAA	0.413													16	94					0	0	0	0	C	39544644	T	C	39544644	3	2	339	1	0	0	0	0	1	0	0	0	1814	1406	49	5	310	5	C15orf54	15	39544644	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	4499322	39544644	62986748	619	63627											
PLCB2	5330	broad.mit.edu	37	chr15	40591370	40591370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttctggccgaggacagagGctcatgaggaaactcttgta	11	10	12	8	1	3	2	1	1	2	1	3	5	3	4	1	4	1	2	1	4	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:40591370G>A	ENST00000260402.3	-	8	891	c.642C>T	c.(640-642)agC>agT	p.S214S	PLCB2_ENST00000456256.2_Silent_p.S214S|PLCB2_ENST00000557821.1_Silent_p.S214S	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	214					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAGGACAGAGGCTCATGAGGA	0.498													5	44					0	0	0	0	A	40591370	G	A	40591370	2	1	339	1	0	0	0	0	0	0	0	1	12100	1194	42	4		4	PLCB2	15	40591370	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1046726	40591370	61940022	620	63628											
TRIM69	140691	broad.mit.edu	37	chr15	45047302	45047302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatccaagacttttggaggCtgcaagcaaaggaaacattc	14	9	10	8	0	0	1	0	0	0	1	2	3	1	3	1	3	3	4	1	3	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:45047302C>A	ENST00000559390.1	+	3	1139	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.L71M|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558173.1_5'UTR			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	71	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CTTTTGGAGGCTGCAAGCAAA	0.458													16	83					0.00316338	0.00362718	1	0	A	45047302	C	A	45047302	3	1	339	1	0	0	0	0	1	0	0	0	16637	796	28	4	217	4	TRIM69	15	45047302	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	4455932	45047302	57484090	621	63629											
DTWD1	56986	broad.mit.edu	37	chr15	49924488	49924488	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtattccagaatatgaagaaAaggaccatgaagtaggcaac	18	7	10	6	0	0	4	0	2	0	2	1	5	1	5	2	2	1	3	2	2	9	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:49924488A>C	ENST00000251250.6	+	4	604	c.397A>C	c.(397-399)Aag>Cag	p.K133Q	DTWD1_ENST00000558653.1_Missense_Mutation_p.K133Q|DTWD1_ENST00000403028.3_Missense_Mutation_p.K133Q|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000415425.1_Missense_Mutation_p.K46Q	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	133										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		ATATGAAGAAAAGGACCATGA	0.323													4	29					0	0	0	0	C	49924488	A	C	49924488	3	2	339	1	0	0	0	0	1	0	0	0	4827	15	1	5	403	5	DTWD1	15	49924488	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	4877186	49924488	52606904	622	63630											
DMXL2	23312	broad.mit.edu	37	chr15	51837835	51837835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcatgagaaaggctgctgGcaatgctggaagtggtagtc	11	8	15	7	0	0	1	0	1	0	1	1	3	0	2	0	4	3	6	0	4	4	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:51837835G>T	ENST00000251076.5	-	8	1162	c.875C>A	c.(874-876)gCc>gAc	p.A292D	DMXL2_ENST00000543779.2_Missense_Mutation_p.A292D|DMXL2_ENST00000449909.3_Missense_Mutation_p.A292D	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	292						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGGCTGCTGGCAATGCTGGA	0.408													14	78					0.000151284	0.000192525	1	0	T	51837835	G	T	51837835	3	4	339	1	0	0	0	0	1	0	0	0	4632	1203	42	4	8382	4	DMXL2	15	51837835	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1913347	51837835	50693557	623	63631											
UNC13C	440279	broad.mit.edu	37	chr15	54307054	54307054	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctcagctctctttacatGaggatctttctccatggaag	9	15	7	10	0	4	1	1	1	4	0	7	3	4	3	1	2	2	1	1	2	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:54307054G>T	ENST00000545554.1	+	1	1954	c.1954G>T	c.(1954-1956)Gag>Tag	p.E652*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E652*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E652*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	652					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCTTTACATGAGGATCTTTC	0.418													5	53					0.014758	0.0159053	1	0	T	54307054	G	T	54307054	4	4	339	1	0	0	0	0	0	1	0	0	17082	1291	45	2	1956	2	UNC13C	15	54307054	Nonsense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2469219	54307054	48224338	624	63632											
DYX1C1	161582	broad.mit.edu	37	chr15	55783354	55783354	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttagtgcgtatttttgatcTtcccgctttgctgcagcttt	4	19	8	10	2	1	1	0	1	1	0	2	1	2	1	1	0	4	5	1	0	2	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:55783354T>A	ENST00000321149.3	-	4	739	c.372A>T	c.(370-372)gaA>gaT	p.E124D	DYX1C1_ENST00000448430.2_Missense_Mutation_p.E124D|DYX1C1_ENST00000380679.1_Missense_Mutation_p.E124D|DYX1C1_ENST00000348518.3_Missense_Mutation_p.E124D|DYX1C1_ENST00000457155.2_Missense_Mutation_p.E124D|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	124					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		ATTTTTGATCTTCCCGCTTTG	0.378													4	50					0	0	0	0	A	55783354	T	A	55783354	3	1	339	1	0	0	0	0	1	0	0	0	4898	1606	56	5	1021	5	DYX1C1	15	55783354	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	1476300	55783354	46748038	625	63633											
HERC1	8925	broad.mit.edu	37	chr15	63950815	63950815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgagcagcagcagtcactCtccttaaagccaccacacgg	11	6	8	16	1	2	1	1	1	1	0	3	1	2	1	4	1	4	3	4	1	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:63950815C>G	ENST00000443617.2	-	48	9614	c.9527G>C	c.(9526-9528)aGa>aCa	p.R3176T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3176					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCAGTCACTCTCCTTAAAGC	0.512													5	25					0	0	0	0	G	63950815	C	G	63950815	3	3	339	1	0	0	0	0	1	0	0	0	7107	913	32	2	5182	2	HERC1	15	63950815	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	8167461	63950815	38580577	626	63634											
IGDCC4	57722	broad.mit.edu	37	chr15	65703521	65703521	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggaaccattgggcagcagGtgtaagtggtcgtgctccag	9	8	16	8	1	0	0	0	0	0	0	2	1	1	1	2	4	3	4	2	4	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:65703521G>A	ENST00000352385.2	-	2	467	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	86	Ig-like C2-type 1.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGGCAGCAGGTGTAAGTGGT	0.612													4	38					0	0	0	0	A	65703521	G	A	65703521	2	1	339	1	0	0	0	0	0	0	0	1	7622	1252	44	4		4	IGDCC4	15	65703521	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1752706	65703521	36827871	627	63635											
UACA	55075	broad.mit.edu	37	chr15	70960221	70960221	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctcatgctctgacttagCgagctcatctttgcctcgtg	5	16	8	12	2	4	1	2	1	3	0	6	2	4	1	1	0	4	2	1	0	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:70960221C>A	ENST00000322954.6	-	16	2987	c.2802G>T	c.(2800-2802)tcG>tcT	p.S934S	UACA_ENST00000560441.1_Silent_p.S919S|UACA_ENST00000379983.2_Silent_p.S921S|UACA_ENST00000539319.1_Silent_p.S825S	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	934						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCTGACTTAGCGAGCTCATCT	0.413													7	55					0.00307968	0.00353564	1	0	A	70960221	C	A	70960221	2	1	339	1	0	0	0	0	0	0	0	1	16920	755	27	3		3	UACA	15	70960221	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	5256700	70960221	31571171	628	63636											
CLK3	1198	broad.mit.edu	37	chr15	74918245	74918245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagttcctgaaggagaataaCttccagccttaccccctacc	11	9	7	14	0	0	2	0	1	0	1	2	4	2	2	6	1	4	1	6	1	5	5	rs144212195	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:74918245C>T	ENST00000395066.3	+	7	1658	c.1197C>T	c.(1195-1197)aaC>aaT	p.N399N	CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000352989.5_Silent_p.N228N|CLK3_ENST00000345005.4_Silent_p.N251N	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	399	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGGAGAATAACTTCCAGCCTT	0.527													4	53					0	0	0	0	T	74918245	C	T	74918245	2	4	339	1	0	0	0	0	0	0	0	1	3568	564	20	4		4	CLK3	15	74918245	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3958024	74918245	27613147	629	63637											
SCAMP5	192683	broad.mit.edu	37	chr15	75311215	75311215	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggaagaatccacatgTgcagcaggcagcccagaacg	12	4	13	12	1	0	2	0	0	0	2	1	3	1	3	3	3	4	3	3	3	3	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:75311215T>A	ENST00000361900.6	+	8	806	c.599T>A	c.(598-600)gTg>gAg	p.V200E	SCAMP5_ENST00000425597.3_Missense_Mutation_p.V200E|SCAMP5_ENST00000562212.1_Missense_Mutation_p.V208E|SCAMP5_ENST00000545456.1_Missense_Mutation_p.V129E|SCAMP5_ENST00000568081.1_Missense_Mutation_p.V133E	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	200					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						AATCCACATGTGCAGCAGGCA	0.552													3	17					0	0	0	0	A	75311215	T	A	75311215	3	1	339	1	0	0	0	0	1	0	0	0	13960	1696	59	5	621	5	SCAMP5	15	75311215	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	392970	75311215	27220177	630	63638											
IQGAP1	8826	broad.mit.edu	37	chr15	91035846	91035846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaactgcaacagacatacGctgctctgaactctaaggcc	13	8	8	12	1	2	3	0	2	2	1	2	3	2	3	1	1	6	3	1	1	5	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:91035846G>T	ENST00000268182.5	+	35	4655	c.4531G>T	c.(4531-4533)Gct>Tct	p.A1511S	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A939S	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1511	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ACAGACATACGCTGCTCTGAA	0.428													3	26					1	1	1	0	T	91035846	G	T	91035846	3	4	339	1	0	0	0	0	1	0	0	0	7867	1087	38	3	4669	3	IQGAP1	15	91035846	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	15724631	91035846	11495546	631	63639											
OR4F6	390648	broad.mit.edu	37	chr15	102346367	102346367	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtttttagtcatttccTggattataggtattattcac	8	22	6	5	0	2	0	2	0	0	0	3	1	3	1	1	2	0	2	1	2	5	11			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:102346367T>C	ENST00000328882.4	+	1	466	c.445T>C	c.(445-447)Tgg>Cgg	p.W149R		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AGTCATTTCCTGGATTATAGG	0.408													14	192					0	0	0	0	C	102346367	T	C	102346367	3	2	339	1	0	0	0	0	1	0	0	0	11137	1580	55	5	447	5	OR4F6	15	102346367	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	11310521	102346367	185025	632	63640											
LUC7L	55692	broad.mit.edu	37	chr16	242964	242964	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcccgttccctctcctctctCctcctcaagcgatcctgatt	4	14	4	19	2	3	1	1	1	2	0	10	2	8	1	6	0	1	1	6	0	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:242964C>T	ENST00000337351.4	-	7	861	c.738G>A	c.(736-738)agG>agA	p.R246R	LUC7L_ENST00000397780.1_Silent_p.R193R|LUC7L_ENST00000397783.1_Silent_p.R246R|LUC7L_ENST00000293872.8_Silent_p.R246R	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	246	Arg/Ser-rich.						metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				TCTCCTCTCTCCTCCTCAAGC	0.522													15	76					0	0	0	0	T	242964	C	T	242964	2	4	339	1	0	0	0	0	0	0	0	1	9146	854	30	2		2	LUC7L	16	242964	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08		242964	90111789	633	63641											
GNG13	51764	broad.mit.edu	37	chr16	848821	848821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcctcgatccacttcagCagcctgcgggtgggcgggtg	4	8	15	14	4	1	0	1	0	0	0	4	1	3	0	4	3	3	1	4	3	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:848821C>T	ENST00000248150.4	-	3	203	c.102G>A	c.(100-102)ctG>ctA	p.L34L		NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein), gamma 13	34					cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity			ovary(1)	1		Hepatocellular(780;0.00335)				TCCACTTCAGCAGCCTGCGGG	0.637													9	53					0	0	0	0	T	848821	C	T	848821	2	4	339	1	0	0	0	0	0	0	0	1	6577	697	25	4		4	GNG13	16	848821	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	605857	848821	89505932	634	63642											
PKD1	5310	broad.mit.edu	37	chr16	2161344	2161344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccggcggggctggccgcaCccacggtcactgtgcagttc	4	6	16	15	4	1	0	1	0	0	0	2	0	1	0	3	6	1	4	3	6	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:2161344C>A	ENST00000262304.4	-	15	4032	c.3824G>T	c.(3823-3825)gGt>gTt	p.G1275V	PKD1_ENST00000423118.1_Missense_Mutation_p.G1275V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1275	PKD 7.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTGGCCGCACCCACGGTCAC	0.697													5	8					0.000602214	0.000724082	1	0	A	2161344	C	A	2161344	3	1	339	1	0	0	0	0	1	0	0	0	12035	507	18	4	9215	4	PKD1	16	2161344	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1312523	2161344	88193409	635	63643											
MEFV	4210	broad.mit.edu	37	chr16	3304456	3304456	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcggagctggcgtttctGcgcagccggacctcggcctg	3	7	15	16	6	1	0	0	0	1	0	2	2	1	2	4	4	3	3	4	4	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:3304456G>T	ENST00000219596.1	-	2	651	c.612C>A	c.(610-612)cgC>cgA	p.R204R	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	204					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGGCGTTTCTGCGCAGCCGGA	0.761													4	19					0.00909568	0.00997907	1	0	T	3304456	G	T	3304456	2	4	339	1	0	0	0	0	0	0	0	1	9528	1306	46	4		4	MEFV	16	3304456	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1143112	3304456	87050297	636	63644											
CREBBP	1387	broad.mit.edu	37	chr16	3786795	3786795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcacttggaggacaggcCcagatgtgccctgtcacata	9	9	10	13	0	2	1	2	0	0	1	2	3	2	3	3	3	1	0	3	3	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:3786795C>A	ENST00000262367.5	-	27	5225	c.4416G>T	c.(4414-4416)tgG>tgT	p.W1472C	CREBBP_ENST00000382070.3_Missense_Mutation_p.W1434C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1472	Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAGGACAGGCCCAGATGTGCC	0.507			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						20	50					8.00594e-06	1.12353e-05	1	0	A	3786795	C	A	3786795	3	1	339	1	0	0	0	0	1	0	0	0	3891	624	22	4	2932	4	CREBBP	16	3786795	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	482339	3786795	86567958	637	63645											
GLYR1	84656	broad.mit.edu	37	chr16	4873864	4873864	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacgcggccatcggtccGgccatcatccccttcacggt	7	9	9	16	5	2	0	2	0	0	0	5	0	4	0	5	4	1	0	5	4	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:4873864G>A	ENST00000321919.9	-	6	658	c.582C>T	c.(580-582)gcC>gcT	p.A194A	GLYR1_ENST00000381983.3_Silent_p.A194A|GLYR1_ENST00000591451.1_Silent_p.A194A|GLYR1_ENST00000436648.5_Silent_p.A113A|GLYR1_ENST00000586901.1_5'UTR	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	194					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCATCGGTCCGGCCATCATCC	0.557													30	58					0	0	0	0	A	4873864	G	A	4873864	2	1	339	1	0	0	0	0	0	0	0	1	6534	1103	39	1		1	GLYR1	16	4873864	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1087069	4873864	85480889	638	63646											
TMC7	79905	broad.mit.edu	37	chr16	19056251	19056251	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgtgtcctggtgttcacGctgggctccaagatcacatc	8	12	10	11	1	2	1	2	0	0	1	5	1	4	1	2	2	0	3	2	2	2	2	rs147850292		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:19056251G>T	ENST00000421369.3	+	10	1611	c.1053G>T	c.(1051-1053)acG>acT	p.T351T	TMC7_ENST00000304381.5_Silent_p.T461T|TMC7_ENST00000569532.1_Silent_p.T461T	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	461						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGGTGTTCACGCTGGGCTCCA	0.582													12	66					0.010729	0.0117429	1	0	T	19056251	G	T	19056251	2	4	339	1	0	0	0	0	0	0	0	1	16084	1074	38	3		3	TMC7	16	19056251	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	14182387	19056251	71298502	639	63647											
ACSM1	116285	broad.mit.edu	37	chr16	20693763	20693763	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttggccttcaacaggatGgtcgcaggaatgaagatgat	11	11	12	7	1	2	3	1	2	1	1	3	5	2	5	1	4	1	1	1	4	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:20693763G>A	ENST00000307493.4	-	3	493	c.426C>T	c.(424-426)acC>acT	p.T142T	ACSM1_ENST00000520010.1_Silent_p.T142T|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	142					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCAACAGGATGGTCGCAGGAA	0.468													3	24					0	0	0	0	A	20693763	G	A	20693763	2	1	339	1	0	0	0	0	0	0	0	1	182	1335	47	4		4	ACSM1	16	20693763	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1637512	20693763	69660990	640	63648											
DNAH3	55567	broad.mit.edu	37	chr16	21136649	21136649	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcaaaatgaatccagtgCtccttccgtgaggtaaaaag	14	8	11	8	1	0	2	0	2	0	0	3	3	3	3	3	2	2	3	3	2	6	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:21136649C>A	ENST00000261383.3	-	9	1250	c.1251G>T	c.(1249-1251)gaG>gaT	p.E417D	DNAH3_ENST00000415178.1_Missense_Mutation_p.E417D|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	417	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAATCCAGTGCTCCTTCCGTG	0.502													5	35					1	1	1	0	A	21136649	C	A	21136649	3	1	339	1	0	0	0	0	1	0	0	0	4640	796	28	4	11314	4	DNAH3	16	21136649	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	442886	21136649	69218104	641	63649											
ARHGAP17	55114	broad.mit.edu	37	chr16	24942604	24942604	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgggaggagaggggcttcgGgtgggtggctttggtgacag	5	9	23	4	1	0	2	0	1	0	1	1	4	0	3	0	8	0	2	0	8	0	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:24942604G>T	ENST00000289968.6	-	19	2085	c.2016C>A	c.(2014-2016)acC>acA	p.T672T	ARHGAP17_ENST00000303665.5_Silent_p.T594T|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	672	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AGGGGCTTCGGGTGGGTGGCT	0.677													11	67					9.70103e-10	1.57944e-09	1	0	T	24942604	G	T	24942604	2	4	339	1	0	0	0	0	0	0	0	1	869	1219	43	4		4	ARHGAP17	16	24942604	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3805955	24942604	65412149	642	63650											
YPEL3	83719	broad.mit.edu	37	chr16	30106424	30106424	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggaggccagatactcacActgagttgaagaggtaggca	14	6	14	7	0	1	4	1	2	0	2	1	5	1	5	1	4	1	3	1	4	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:30106424A>G	ENST00000562641.1	-	2	804	c.275_splice	c.e2+1	p.V92_splice	YPEL3_ENST00000566595.1_Splice_Site_p.V54_splice|YPEL3_ENST00000398838.4_Splice_Site_p.V54_splice|YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000563788.1_Splice_Site_p.V54_splice|YPEL3_ENST00000566134.1_Splice_Site_p.V54_splice|YPEL3_ENST00000398841.1_Splice_Site_p.V92_splice			P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	54						nucleolus				endometrium(1)|lung(2)	3						AGATACTCACACTGAGTTGAA	0.617													4	20					0	0	0	0	G	30106424	A	G	30106424	5	3	339	1	0	0	0	0	0	0	1	0	17587	173	6	5	210	5	YPEL3	16	30106424	Splice_Site	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	5163820	30106424	60248329	643	63651											
ITGAL	3683	broad.mit.edu	37	chr16	30510662	30510662	+	Frame_Shift_Del	DEL	G	G	-																															ttttccgccctgcccaggccGcctggttgccaatctcactt																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:30510662delG	ENST00000356798.6	+	17	2177	c.1997delG	c.(1996-1998)ccfs	p.R666fs	RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000433423.2_Frame_Shift_Del_p.R62fs|ITGAL_ENST00000358164.5_Frame_Shift_Del_p.R583fs	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	666					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGCCCAGGCCGCCTGGTTGCC	0.592													9	84	---	---	---	---					-	30510662	G	-	30510662	7	5	339	1	0	1	0	1	0	0	0	0	7939	1087	38	0	2063	0	ITGAL	16	30510662	Frame_Shift_Del	DEL	G	TCGA-CV-A45Z-01A-21D-A25D-08	404238	30510662	59844091	644	63652											
ZNF785	146540	broad.mit.edu	37	chr16	30594427	30594427	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggggtagggcttctcGccggtgtggatgaactgatg	6	9	19	7	2	1	2	0	2	1	0	2	3	1	3	1	6	1	3	1	6	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:30594427G>A	ENST00000395216.2	-	3	831	c.672C>T	c.(670-672)ggC>ggT	p.G224G	AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Silent_p.G209G	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						AGGGCTTCTCGCCGGTGTGGA	0.687													5	30					0	0	0	0	A	30594427	G	A	30594427	2	1	339	1	0	0	0	0	0	0	0	1	18250	1074	38	1		1	ZNF785	16	30594427	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	83765	30594427	59760326	645	63653											
NETO2	81831	broad.mit.edu	37	chr16	47117401	47117401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcgacccacagtggtggtCgtggatgcagcgggaggcgg	6	6	19	10	4	0	0	0	0	0	0	1	3	0	2	1	6	3	1	1	6	0	0	rs144054886		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:47117401C>T	ENST00000562435.1	-	9	1693	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	NETO2_ENST00000303155.5_Missense_Mutation_p.D430N	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	437						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CAGTGGTGGTCGTGGATGCAG	0.552										HNSCC(25;0.065)			19	114					0	0	0	0	T	47117401	C	T	47117401	3	4	339	1	0	0	0	0	1	0	0	0	10410	884	31	1	272	1	NETO2	16	47117401	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	16522974	47117401	43237352	646	63654											
SALL1	6299	broad.mit.edu	37	chr16	51174491	51174491	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtggtcagagtaggcaGgactggtttggtgtctagcc	8	11	16	6	0	2	2	1	1	1	1	2	3	2	3	1	5	1	3	1	5	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:51174491G>C	ENST00000440970.1	-	2	1782	c.1351C>G	c.(1351-1353)Ctg>Gtg	p.L451V	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L548V	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	548					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGAGTAGGCAGGACTGGTTTG	0.572													7	52					0	0	0	0	C	51174491	G	C	51174491	3	2	339	1	0	0	0	0	1	0	0	0	13895	991	35	4	2340	4	SALL1	16	51174491	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4057090	51174491	39180262	647	63655											
SALL1	6299	broad.mit.edu	37	chr16	51175462	51175462	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgagggctgggacggccAgcttgcccccagaggccccg	6	4	15	16	2	0	2	0	1	0	1	0	3	0	3	6	4	2	2	6	4	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:51175462A>T	ENST00000440970.1	-	2	811	c.380T>A	c.(379-381)cTg>cAg	p.L127Q	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L224Q	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	224					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGGACGGCCAGCTTGCCCCC	0.582													10	63					0	0	0	0	T	51175462	A	T	51175462	3	4	339	1	0	0	0	0	1	0	0	0	13895	188	7	5	3311	5	SALL1	16	51175462	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	971	51175462	39179291	648	63656											
CDH8	1006	broad.mit.edu	37	chr16	61851570	61851570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccctgccactgaagcgtgGgtcaatatggacattggctg	8	9	12	12	1	1	1	1	1	0	0	1	2	1	2	3	3	2	1	3	3	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:61851570G>A	ENST00000577390.1	-	7	2044	c.1090C>T	c.(1090-1092)Cca>Tca	p.P364S	CDH8_ENST00000577730.1_Missense_Mutation_p.P364S|CDH8_ENST00000584337.1_Missense_Mutation_p.P364S|CDH8_ENST00000299345.6_Missense_Mutation_p.P364S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	364	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTGAAGCGTGGGTCAATATGG	0.473													8	34					0	0	0	0	A	61851570	G	A	61851570	3	1	339	1	0	0	0	0	1	0	0	0	3145	1232	43	4	1333	4	CDH8	16	61851570	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	10676108	61851570	28503183	649	63657											
CDH11	1009	broad.mit.edu	37	chr16	64984719	64984719	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcagggcgcctgtgctCaggccggcgttcagaatgta	7	8	15	11	4	3	1	3	0	0	1	3	2	3	1	2	3	1	3	2	3	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:64984719C>A	ENST00000394156.3	-	12	2298	c.1845G>T	c.(1843-1845)ctG>ctT	p.L615L	CDH11_ENST00000566827.1_Silent_p.L489L|CDH11_ENST00000268603.4_Silent_p.L615L			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	615					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGCCTGTGCTCAGGCCGGCGT	0.632			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			3	28					6.4e-05	8.32002e-05	1	0	A	64984719	C	A	64984719	2	1	339	1	0	0	0	0	0	0	0	1	3126	813	29	2		2	CDH11	16	64984719	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3133149	64984719	25370034	650	63658											
CES2	8824	broad.mit.edu	37	chr16	66975088	66975088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccctggtgggctgcctgcGgggcaagagtaaagaggaga	9	5	19	8	1	0	3	0	0	0	3	0	4	0	3	2	6	2	3	2	6	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:66975088G>A	ENST00000317091.4	+	6	2054	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	CES2_ENST00000417689.1_Missense_Mutation_p.R357Q	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	293					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGCTGCCTGCGGGGCAAGAGT	0.572													5	35					0	0	0	0	A	66975088	G	A	66975088	3	1	339	1	0	0	0	0	1	0	0	0	3299	1116	39	1	1092	1	CES2	16	66975088	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1990369	66975088	23379665	651	63659											
PRDM7	11105	broad.mit.edu	37	chr16	90124900	90124900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaatttttgacttgaaaagGccagacagcatgagggacat	15	9	11	6	0	0	4	0	3	0	1	0	6	0	5	1	2	1	1	1	2	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:90124900G>T	ENST00000449207.2	-	10	1295	c.1276C>A	c.(1276-1278)Cct>Act	p.P426T	PRDM7_ENST00000407825.1_Silent_p.G125G|PRDM7_ENST00000325921.6_Silent_p.G125G	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	426						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)		ACTTGAAAAGGCCAGACAGCA	0.438													10	58					0.000442599	0.00054214	1	0	T	90124900	G	T	90124900	3	4	339	1	0	0	0	0	1	0	0	0	12541	1203	42	4	206	4	PRDM7	16	90124900	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	23149812	90124900	229853	652	63660											
OR1G1	8390	broad.mit.edu	37	chr17	3030084	3030084	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaaatcaacacaaaaagaAgtcccaaagaagagagagac	22	3	8	8	0	1	5	1	1	0	4	2	7	2	5	1	0	1	0	1	0	7	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:3030084A>T	ENST00000328890.2	-	1	791	c.762T>A	c.(760-762)acT>acA	p.T254T		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CACAAAAAGAAGTCCCAAAGA	0.493													4	35					0	0	0	0	T	3030084	A	T	3030084	2	4	339	1	0	0	0	0	0	0	0	1	11028	59	3	5		5	OR1G1	17	3030084	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08		3030084	78165126	653	63661											
POLR2A	5430	broad.mit.edu	37	chr17	7414793	7414793	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggaggatggggaattcaaGgccctgcaggagtggatcct	10	7	16	8	1	1	0	1	0	0	0	2	5	2	5	2	7	1	1	2	7	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:7414793G>A	ENST00000322644.6	+	24	4386	c.3987G>A	c.(3985-3987)aaG>aaA	p.K1329K		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1329					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.I1322_W1334del(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGGAATTCAAGGCCCTGCAGG	0.562													9	30					0	0	0	0	A	7414793	G	A	7414793	2	1	339	1	0	0	0	0	0	0	0	1	12286	991	35	4		4	POLR2A	17	7414793	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4384709	7414793	73780417	654	63662											
TP53	7157	broad.mit.edu	37	chr17	7578290	7578290	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgaggaggggccagacCtaagagcaatcagtgaggaa	14	5	15	7	0	1	4	1	2	0	2	1	6	1	6	2	4	2	2	2	4	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:7578290C>T	ENST00000420246.2	-	6	692		c.e6-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGGCCAGACCTAAGAGCAAT	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	19					0	0	0	0	T	7578290	C	T	7578290	5	4	339	1	0	0	0	0	0	0	1	0	16476	695	24	4	735	4	TP53	17	7578290	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	163497	7578290	73616920	655	63663											
TP53	7157	broad.mit.edu	37	chr17	7578455	7578455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgtagatggccatggCgcggacgcgggtgccgggcg	4	7	19	11	6	0	1	0	0	0	1	0	2	0	2	2	5	2	2	2	5	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:7578455C>G	ENST00000420246.2	-	5	607	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	TP53_ENST00000359597.4_Missense_Mutation_p.A159P|TP53_ENST00000413465.2_Missense_Mutation_p.A159P|TP53_ENST00000455263.2_Missense_Mutation_p.A159P|TP53_ENST00000269305.4_Missense_Mutation_p.A159P|TP53_ENST00000445888.2_Missense_Mutation_p.A159P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A159P(19)|p.0?(8)|p.A159T(7)|p.R158fs(6)|p.R158fs*11(6)|p.A159fs*11(4)|p.A159S(4)|p.R65fs(2)|p.A27P(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.A66P(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCCATGGCGCGGACGCGG	0.627		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	27					0	0	0	0	G	7578455	C	G	7578455	3	3	339	1	0	0	0	0	1	0	0	0	16476	768	27	3	823	3	TP53	17	7578455	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	165	7578455	73616755	656	63664											
MYH13	8735	broad.mit.edu	37	chr17	10253892	10253892	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcggtgccgtctggctcCgcctgctcctcacgctgctt	1	12	10	18	4	2	0	1	0	1	0	5	0	4	0	5	2	3	4	5	2	0	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:10253892C>G	ENST00000418404.3	-	11	1288	c.1125G>C	c.(1123-1125)gcG>gcC	p.A375A	MYH13_ENST00000570743.1_Silent_p.A375A|MYH13_ENST00000252172.4_Silent_p.A375A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	375	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.A375A(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGTCTGGCTCCGCCTGCTCCT	0.542													6	48					0	0	0	0	G	10253892	C	G	10253892	2	3	339	1	0	0	0	0	0	0	0	1	10102	639	23	3		3	MYH13	17	10253892	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2675437	10253892	70941318	657	63665											
MYH8	4626	broad.mit.edu	37	chr17	10322097	10322097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtaggggttgacggtgaCacagaagaggcctgagtagg	10	8	17	6	1	0	5	0	3	0	2	0	5	0	5	1	5	0	3	1	5	3	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:10322097C>G	ENST00000403437.2	-	5	470	c.376G>C	c.(376-378)Gtc>Ctc	p.V126L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	126	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGACGGTGACACAGAAGAGG	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				14	99					0	0	0	0	G	10322097	C	G	10322097	3	3	339	1	0	0	0	0	1	0	0	0	10111	478	17	4	5581	4	MYH8	17	10322097	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	68205	10322097	70873113	658	63666											
MYH4	4622	broad.mit.edu	37	chr17	10357072	10357072	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttcctcttcttggctGtcagctcagcattgatctct	5	16	7	13	0	5	1	2	1	3	0	7	1	6	1	2	1	2	4	2	1	0	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:10357072G>C	ENST00000255381.2	-	23	2932	c.2822C>G	c.(2821-2823)aCa>aGa	p.T941R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	941					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCTTGGCTGTCAGCTCAGC	0.438													18	176					0	0	0	0	C	10357072	G	C	10357072	3	2	339	1	0	0	0	0	1	0	0	0	10107	1377	48	4	3069	4	MYH4	17	10357072	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	34975	10357072	70838138	659	63667											
MYH1	4619	broad.mit.edu	37	chr17	10419286	10419286	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcagagatggagaagatGtggggtggggcctcctggcg	7	9	19	6	1	1	3	1	0	0	3	2	5	2	3	2	6	0	0	2	6	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:10419286G>A	ENST00000226207.5	-	5	556	c.462C>T	c.(460-462)caC>caT	p.H154H	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	154	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGAGAAGATGTGGGGTGGGG	0.473													8	84					0	0	0	0	A	10419286	G	A	10419286	2	1	339	1	0	0	0	0	0	0	0	1	10099	1368	48	4		4	MYH1	17	10419286	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	62214	10419286	70775924	660	63668											
DNAH9	1770	broad.mit.edu	37	chr17	11687677	11687677	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccctgtcctctatctacAgcatcatcctcactcagcat	9	12	4	16	0	5	0	3	0	2	0	7	0	7	0	3	0	4	2	3	0	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:11687677A>G	ENST00000262442.3	+	41	7950	c.7882A>G	c.(7882-7884)Agc>Ggc	p.S2628G	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2628G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2628	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCTATCTACAGCATCATCCT	0.557													22	128					0	0	0	0	G	11687677	A	G	11687677	3	3	339	1	0	0	0	0	1	0	0	0	4644	188	7	5	8044	5	DNAH9	17	11687677	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	1268391	11687677	69507533	661	63669											
DNAH9	1770	broad.mit.edu	37	chr17	11865334	11865334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaacagaatcaaggagctaGaggcttggacgggtgacttt	12	9	13	7	1	2	3	2	1	0	2	2	5	2	5	0	4	2	2	0	4	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:11865334G>A	ENST00000262442.3	+	68	13062	c.12994G>A	c.(12994-12996)Gag>Aag	p.E4332K	DNAH9_ENST00000396001.2_Missense_Mutation_p.E644K|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4256K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4332					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E4332Q(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGGAGCTAGAGGCTTGGAC	0.577													4	58					0	0	0	0	A	11865334	G	A	11865334	3	1	339	1	0	0	0	0	1	0	0	0	4644	943	33	2	13264	2	DNAH9	17	11865334	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	177657	11865334	69329876	662	63670											
FLII	2314	broad.mit.edu	37	chr17	18148389	18148389	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctgagtacattctttgcTagcagacagtggatgaggcc	10	10	11	10	0	1	3	0	2	1	1	1	4	1	4	2	2	3	3	2	2	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:18148389T>C	ENST00000578558.1	-	17	2137	c.2102A>G	c.(2101-2103)tAg>tGg	p.*701W	FLII_ENST00000545457.2_3'UTR|FLII_ENST00000379450.4_3'UTR|FLII_ENST00000327031.4_3'UTR|FLII_ENST00000579294.1_3'UTR			Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	0	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CATTCTTTGCTAGCAGACAGT	0.607													10	70					0	0	0	0	C	18148389	T	C	18148389	4	2	339	1	0	0	0	0	0	0	0	0	5970	1537	53	5		5	FLII	17	18148389	Nonstop_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	6283055	18148389	63046821	663	63671											
MAPK7	5598	broad.mit.edu	37	chr17	19285706	19285706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgccgcccccagacgccgGgggagcccctcagtcttcca	5	5	11	20	3	2	1	1	0	1	1	3	2	3	2	8	2	2	0	8	2	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:19285706G>T	ENST00000308406.5	+	5	2476	c.2090G>T	c.(2089-2091)gGg>gTg	p.G697V	MAPK7_ENST00000299612.7_Missense_Mutation_p.G558V|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.G697V|MAPK7_ENST00000395604.3_Missense_Mutation_p.G697V	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	697	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCAGACGCCGGGGGAGCCCCT	0.637													10	45					0.0581538	0.0613734	1	0	T	19285706	G	T	19285706	3	4	339	1	0	0	0	0	1	0	0	0	9351	1232	43	4	2104	4	MAPK7	17	19285706	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1137317	19285706	61909504	664	63672											
KIAA0100	9703	broad.mit.edu	37	chr17	26961885	26961885	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcatccagtagctgtagtCttttggcactctccttactt	7	16	7	11	0	2	0	0	0	2	0	4	0	3	0	2	1	3	5	2	1	4	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:26961885C>A	ENST00000528896.2	-	16	2794	c.2720G>T	c.(2719-2721)aGa>aTa	p.R907I	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R764I|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R764I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	907						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TAGCTGTAGTCTTTTGGCACT	0.478													17	191					8.60227e-14	1.44689e-13	1	0	A	26961885	C	A	26961885	3	1	339	1	0	0	0	0	1	0	0	0	8205	913	32	2	4083	2	KIAA0100	17	26961885	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	7676179	26961885	54233325	665	63673											
SLFN13	146857	broad.mit.edu	37	chr17	33768387	33768387	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcagatatttctatcacTgtaaaaattaaaagaataca	18	12	5	6	1	2	2	1	0	1	2	3	2	2	2	0	1	1	2	0	1	9	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:33768387T>A	ENST00000285013.6	-	6	2198		c.e6-2		SLFN13_ENST00000526861.1_Splice_Site|SLFN13_ENST00000542635.1_Splice_Site|SLFN13_ENST00000360502.2_Splice_Site|SLFN13_ENST00000534689.1_Splice_Site|SLFN13_ENST00000533791.1_Splice_Site	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13							intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTTCTATCACTGTAAAAATTA	0.383													7	53					0	0	0	0	A	33768387	T	A	33768387	5	1	339	1	0	0	0	0	0	0	1	0	14824	1594	55	5	776	5	SLFN13	17	33768387	Splice_Site	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	6806502	33768387	47426823	666	63674											
ACACA	31	broad.mit.edu	37	chr17	35549119	35549119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacttccaccttggctgccCcgagatacaggtgcatcttg	7	10	9	15	1	1	1	0	0	1	1	2	2	2	1	5	2	3	2	5	2	1	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:35549119C>T	ENST00000353139.5	-	37	4809	c.4328G>A	c.(4327-4329)gGg>gAg	p.G1443E	ACACA_ENST00000394406.2_Missense_Mutation_p.G1406E|ACACA_ENST00000335166.5_Missense_Mutation_p.G1328E|ACACA_ENST00000360679.3_Missense_Mutation_p.G1348E	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1406					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTGGCTGCCCCGAGATACAG	0.507													7	29					0	0	0	0	T	35549119	C	T	35549119	3	4	339	1	0	0	0	0	1	0	0	0	106	623	22	4	2903	4	ACACA	17	35549119	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1780732	35549119	45646091	667	63675											
TNS4	84951	broad.mit.edu	37	chr17	38652502	38652502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcggccagggggccccatgCagggcacgggggccatcagg	6	3	19	13	2	1	0	1	0	0	0	2	0	1	0	4	7	1	2	4	7	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:38652502C>A	ENST00000254051.6	-	2	334	c.176G>T	c.(175-177)tGc>tTc	p.C59F		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	59					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGGCCCCATGCAGGGCACGGG	0.692													9	68					0.000274275	0.000339596	1	0	A	38652502	C	A	38652502	3	1	339	1	0	0	0	0	1	0	0	0	16439	710	25	4	2019	4	TNS4	17	38652502	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	3103383	38652502	42542708	668	63676											
SLC4A1	6521	broad.mit.edu	37	chr17	42328879	42328879	+	Frame_Shift_Del	DEL	C	C	-																															gatgccgctgagcgacgtgaCccccatgtagaggaagatgc																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:42328879delC	ENST00000262418.6	-	18	2544	c.2389delG	c.(2389-2391)tcfs	p.V797fs		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	797	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCGACGTGACCCCCATGTAG	0.592													12	40	---	---	---	---					-	42328879	C	-	42328879	7	5	339	1	0	1	0	1	0	0	0	0	14738	507	18	0	358	0	SLC4A1	17	42328879	Frame_Shift_Del	DEL	C	TCGA-CV-A45Z-01A-21D-A25D-08	3676377	42328879	38866331	669	63677											
IGF2BP1	10642	broad.mit.edu	37	chr17	47117419	47117419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgcttgtaagatgatcttgGagattatgcataaagaggct	12	12	11	6	1	1	4	0	1	1	3	1	5	1	4	1	2	1	4	1	2	4	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:47117419G>A	ENST00000290341.3	+	7	1118	c.784G>A	c.(784-786)Gag>Aag	p.E262K	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	262	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GATGATCTTGGAGATTATGCA	0.502													8	91					0	0	0	0	A	47117419	G	A	47117419	3	1	339	1	0	0	0	0	1	0	0	0	7626	1175	41	2	810	2	IGF2BP1	17	47117419	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	4788540	47117419	34077791	670	63678											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917855	48917855	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagcctacgcgcctcgctgGgcttacaacagccagacggg	10	5	12	14	4	0	1	0	0	0	1	1	1	0	1	3	2	5	2	3	2	4	2	rs148609730		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:48917855G>A	ENST00000311378.4	+	2	1734	c.1206G>A	c.(1204-1206)tgG>tgA	p.W402*	WFIKKN2_ENST00000426127.1_Nonsense_Mutation_p.W309*|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	402	BPTI/Kunitz inhibitor 2.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CGCCTCGCTGGGCTTACAACA	0.652													7	41					0	0	0	0	A	48917855	G	A	48917855	4	1	339	1	0	0	0	0	0	1	0	0	17455	1241	43	4	1212	4	WFIKKN2	17	48917855	Nonsense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1800436	48917855	32277355	671	63679											
ANKFN1	162282	broad.mit.edu	37	chr17	54428209	54428209	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtgctccctcatctcccAacgcagccaaacgcctgtac	10	8	6	17	2	2	0	1	0	1	0	4	0	3	0	4	0	5	3	4	0	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:54428209A>G	ENST00000566473.2	+	4	280	c.280A>G	c.(280-282)Aac>Gac	p.N94D	ANKFN1_ENST00000318698.2_Missense_Mutation_p.N94D			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	94										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTCATCTCCCAACGCAGCCAA	0.453													6	38					0	0	0	0	G	54428209	A	G	54428209	3	3	339	1	0	0	0	0	1	0	0	0	625	130	5	5	294	5	ANKFN1	17	54428209	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	5510354	54428209	26767001	672	63680											
PPM1E	22843	broad.mit.edu	37	chr17	57057541	57057541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaattagtggcatcagctCgtgatgctgggtcaagtgat	11	11	12	7	1	2	2	2	2	0	0	3	2	2	2	0	2	2	3	0	2	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:57057541C>A	ENST00000308249.2	+	7	1546	c.1417C>A	c.(1417-1419)Cgt>Agt	p.R473S		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	482	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GGCATCAGCTCGTGATGCTGG	0.463													15	60					2.31682e-05	3.12669e-05	1	0	A	57057541	C	A	57057541	3	1	339	1	0	0	0	0	1	0	0	0	12414	884	31	3	1443	3	PPM1E	17	57057541	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2629332	57057541	24137669	673	63681											
ACE	1636	broad.mit.edu	37	chr17	61566339	61566339	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcgtggaggtctatgtaCgagacaccatccctggagca	10	8	12	11	2	1	1	0	0	1	1	3	5	2	3	2	3	2	2	2	3	2	2	rs35580653	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:61566339C>G	ENST00000577647.1	+	6	810	c.765C>G	c.(763-765)taC>taG	p.Y255*	ACE_ENST00000290866.4_Nonsense_Mutation_p.Y829*|ACE_ENST00000490216.2_Nonsense_Mutation_p.Y255*|ACE_ENST00000290863.6_Nonsense_Mutation_p.Y255*|ACE_ENST00000421982.2_Intron|ACE_ENST00000413513.3_Nonsense_Mutation_p.Y255*|ACE_ENST00000428043.1_Nonsense_Mutation_p.Y829*			P12821	ACE_HUMAN	angiotensin I converting enzyme	829	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGTCTATGTACGAGACACCAT	0.607													4	41					0	0	0	0	G	61566339	C	G	61566339	4	3	339	1	0	0	0	0	0	1	0	0	136	547	19	3	2756	3	ACE	17	61566339	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	4508798	61566339	19628871	674	63682											
KCNJ16	3773	broad.mit.edu	37	chr17	68128152	68128152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggttctaactgaaaaccCaaaccaagaaatagcaacaa	20	7	5	9	0	1	2	0	1	1	1	1	2	1	2	2	1	5	2	2	1	10	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:68128152C>G	ENST00000585558.1	+	4	417	c.29C>G	c.(28-30)cCa>cGa	p.P10R	KCNJ16_ENST00000392670.1_5'UTR|KCNJ16_ENST00000586462.1_Missense_Mutation_p.P14R|KCNJ16_ENST00000283936.1_5'UTR|KCNJ16_ENST00000392671.1_5'UTR|KCNJ16_ENST00000589377.1_5'UTR			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	0					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACTGAAAACCCAAACCAAGAA	0.373													3	8					0	0	0	0	G	68128152	C	G	68128152	3	3	339	1	0	0	0	0	1	0	0	0	8103	609	21	4		4	KCNJ16	17	68128152	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	6561813	68128152	13067058	675	63683											
BAIAP2	10458	broad.mit.edu	37	chr17	79073836	79073836	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgcttcctggtggagAagcagtgcgccgtggccaag	6	9	15	11	2	1	1	0	0	1	1	2	2	2	1	3	3	3	3	3	3	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:79073836A>C	ENST00000321300.6	+	7	691	c.598A>C	c.(598-600)Aag>Cag	p.K200Q	BAIAP2_ENST00000321280.7_Missense_Mutation_p.K200Q|BAIAP2_ENST00000575712.1_Missense_Mutation_p.K200Q|BAIAP2_ENST00000416299.2_Missense_Mutation_p.K63Q|BAIAP2_ENST00000575245.1_Missense_Mutation_p.K233Q|BAIAP2_ENST00000428708.2_Missense_Mutation_p.K200Q|BAIAP2_ENST00000392411.3_Missense_Mutation_p.K122Q|BAIAP2_ENST00000435091.3_Missense_Mutation_p.K200Q	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	200	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCTGGTGGAGAAGCAGTGCGC	0.647													5	23					0	0	0	0	C	79073836	A	C	79073836	3	2	339	1	0	0	0	0	1	0	0	0	1305	247	9	5	624	5	BAIAP2	17	79073836	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	10945684	79073836	2121374	676	63684											
C17orf70	80233	broad.mit.edu	37	chr17	79517459	79517459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggtacacgcggccacccCcgccacaggcagcgcagagc	8	3	13	17	4	0	1	0	0	0	1	0	1	0	1	4	3	3	3	4	3	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:79517459C>A	ENST00000537152.1	-	3	1133	c.608G>T	c.(607-609)gGg>gTg	p.G203V	C17orf70_ENST00000327787.8_Missense_Mutation_p.G354V	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	354					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCGGCCACCCCCGCCACAGGC	0.682													8	24					0.00307968	0.00353564	1	0	A	79517459	C	A	79517459	3	1	339	1	0	0	0	0	1	0	0	0	1892	623	22	4	1612	4	C17orf70	17	79517459	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	443623	79517459	1677751	677	63685											
ZNF750	79755	broad.mit.edu	37	chr17	80789123	80789124	+	Frame_Shift_Ins	INS	-	-	G																															cgtggctgcactccctgcgcINSgggggctcattttggaccct																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:80789123_80789124insG	ENST00000269394.3	-	2	2040_2041	c.1207_1208insC	c.(1207-1209)cgcfs	p.R403fs	ZNF750_ENST00000572562.1_Frame_Shift_Ins_p.R4fs|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	403						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACTCCCTGCGCGGGGGCTCATT	0.609													8	98	---	---	---	---					G	80789124	-	G	80789123	7	5	339	1	0	1	1	0	0	0	0	0	18226	768	27	0	971	0	ZNF750	17	80789123	Frame_Shift_Ins	INS	-	TCGA-CV-A45Z-01A-21D-A25D-08	1271664	80789123	406087	678	63686											
EMILIN2	84034	broad.mit.edu	37	chr18	2909754	2909754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagcctttccccagtgatGggggcgttgtcctctttaac	7	12	11	11	1	1	2	0	1	1	1	3	2	3	2	4	2	2	1	4	2	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:2909754G>T	ENST00000254528.3	+	7	2920	c.2761G>T	c.(2761-2763)Ggg>Tgg	p.G921W	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	921	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCCCAGTGATGGGGGCGTTGT	0.557													4	50					0.00024832	0.000309133	1	0	T	2909754	G	T	2909754	3	4	339	1	0	0	0	0	1	0	0	0	5132	1348	47	4	2787	4	EMILIN2	18	2909754	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08		2909754	75167494	679	63687											
PTPRM	5797	broad.mit.edu	37	chr18	8394531	8394531	+	Silent	SNP	C	C	A																															agcatcgtatgtgagatgctCcggcaccagagaaccgtgga																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:8394531C>A	ENST00000332175.8	+	30	5264	c.4227C>A	c.(4225-4227)ctC>ctA	p.L1409L	PTPRM_ENST00000444013.1_Silent_p.L1196L|PTPRM_ENST00000400053.4_Silent_p.L1347L|PTPRM_ENST00000400060.4_Silent_p.L1423L|PTPRM_ENST00000580170.1_Silent_p.L1422L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1409	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTGAGATGCTCCGGCACCAGA	0.557													6	28					2.0095e-06	2.90014e-06	1	0	A	8394531	C	A	8394531	2	1	339	1	0	0	0	0	0	0	0	1	12888	842	30	2		2	PTPRM	18	8394531	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	5484777	8394531	69682717	680	63688	765	2									
PTPRM	5797	broad.mit.edu	37	chr18	8394532	8394532	+	Silent	SNP	C	C	A																															gcatcgtatgtgagatgctcCggcaccagagaaccgtggat																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:8394532C>A	ENST00000332175.8	+	30	5265	c.4228C>A	c.(4228-4230)Cgg>Agg	p.R1410R	PTPRM_ENST00000444013.1_Silent_p.R1197R|PTPRM_ENST00000400053.4_Silent_p.R1348R|PTPRM_ENST00000400060.4_Silent_p.R1424R|PTPRM_ENST00000580170.1_Silent_p.R1423R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1410	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGAGATGCTCCGGCACCAGAG	0.557													5	27					3.59834e-05	4.78558e-05	1	0	A	8394532	C	A	8394532	2	1	339	1	0	0	0	0	0	0	0	1	12888	643	23	3		3	PTPRM	18	8394532	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1	8394532	69682716	681	63689	765	2									
ZNF521	25925	broad.mit.edu	37	chr18	22805260	22805260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgtcaacgtcttcttcgctCccatcgtgactgttgtggga	5	14	11	11	3	3	1	1	1	2	0	6	2	4	2	1	1	1	2	1	1	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:22805260C>T	ENST00000361524.3	-	4	2770	c.2622G>A	c.(2620-2622)ggG>ggA	p.G874G	ZNF521_ENST00000538137.2_Silent_p.G874G|ZNF521_ENST00000584787.1_Silent_p.G654G	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	874					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTTCTTCGCTCCCATCGTGAC	0.532			T	PAX5	ALL								9	71					0	0	0	0	T	22805260	C	T	22805260	2	4	339	1	0	0	0	0	0	0	0	1	18060	842	30	2		2	ZNF521	18	22805260	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	14410728	22805260	55271988	682	63690											
ASXL3	80816	broad.mit.edu	37	chr18	31323053	31323053	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtggctgctgcagcgAgcattgtctctggagccatg	5	11	14	11	1	1	0	0	0	1	0	2	2	1	1	1	2	6	5	1	2	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:31323053A>G	ENST00000269197.5	+	12	3241	c.3241A>G	c.(3241-3243)Agc>Ggc	p.S1081G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGCTGCAGCGAGCATTGTCTC	0.587													4	32					0	0	0	0	G	31323053	A	G	31323053	3	3	339	1	0	0	0	0	1	0	0	0	1072	304	11	5	3287	5	ASXL3	18	31323053	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	8517793	31323053	46754195	683	63691											
DCC	1630	broad.mit.edu	37	chr18	50918126	50918126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagtaggtgtacaggctGtggctcttacccatgatgct	8	11	11	11	0	1	1	0	1	1	0	1	1	1	1	2	3	3	5	2	3	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:50918126G>T	ENST00000442544.2	+	17	3173	c.2557G>T	c.(2557-2559)Gtg>Ttg	p.V853L	DCC_ENST00000412726.1_Missense_Mutation_p.V681L|DCC_ENST00000581580.1_Missense_Mutation_p.V488L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	853	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTACAGGCTGTGGCTCTTAC	0.542													9	84					3.09899e-07	4.66377e-07	1	0	T	50918126	G	T	50918126	3	4	339	1	0	0	0	0	1	0	0	0	4314	1377	48	4	2623	4	DCC	18	50918126	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	19595073	50918126	27159122	684	63692											
SERPINB4	6318	broad.mit.edu	37	chr18	61309123	61309123	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttcctgacctatcaacCttcaaacatcaaaaagggag	16	9	5	11	0	3	1	3	1	0	0	4	2	4	2	3	1	2	0	3	1	5	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:61309123C>A	ENST00000341074.5	-	4	338		c.e4-1		SERPINB4_ENST00000356424.6_Splice_Site	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ACCTATCAACCTTCAAACATC	0.388													6	81					3.59834e-05	4.78558e-05	1	0	A	61309123	C	A	61309123	5	1	339	1	0	0	0	0	0	0	1	0	14190	695	24	4	970	4	SERPINB4	18	61309123	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	10390997	61309123	16768125	685	63693											
CDH7	1005	broad.mit.edu	37	chr18	63477204	63477204	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttttggatggcccatacAcggcaggagttcccgaaatg	11	10	11	9	2	0	0	0	0	0	0	1	3	1	2	2	4	1	2	2	4	3	4	rs146356739		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:63477204A>T	ENST00000536984.2	+	3	1169	c.475A>T	c.(475-477)Acg>Tcg	p.T159S	CDH7_ENST00000323011.3_Missense_Mutation_p.T159S|CDH7_ENST00000397968.2_Missense_Mutation_p.T159S			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	159	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGGCCCATACACGGCAGGAGT	0.448													7	66					0	0	0	0	T	63477204	A	T	63477204	3	4	339	1	0	0	0	0	1	0	0	0	3144	159	6	5	481	5	CDH7	18	63477204	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	2168081	63477204	14600044	686	63694											
CDH19	28513	broad.mit.edu	37	chr18	64172127	64172127	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaactcattaaggtaatcAtagctttcatcctgatcaga	13	12	5	11	0	4	2	4	1	0	1	5	2	5	2	2	1	2	2	2	1	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:64172127A>G	ENST00000262150.2	-	12	2533	c.2241T>C	c.(2239-2241)taT>taC	p.Y747Y		NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	747					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TAAGGTAATCATAGCTTTCAT	0.418													6	51					0	0	0	0	G	64172127	A	G	64172127	2	3	339	1	0	0	0	0	0	0	0	1	3133	224	8	5		5	CDH19	18	64172127	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	694923	64172127	13905121	687	63695											
DSEL	92126	broad.mit.edu	37	chr18	65178592	65178592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattttgataattctttcCtcaatggttcatactcgaaa	11	17	6	7	1	3	1	2	1	1	0	5	3	4	2	1	2	1	1	1	2	4	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:65178592C>T	ENST00000310045.7	-	2	4757	c.3284G>A	c.(3283-3285)aGg>aAg	p.R1095K	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1085						integral to membrane	isomerase activity|sulfotransferase activity	p.R1095K(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TAATTCTTTCCTCAATGGTTC	0.368													4	38					0	0	0	0	T	65178592	C	T	65178592	3	4	339	1	0	0	0	0	1	0	0	0	4811	681	24	4	388	4	DSEL	18	65178592	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1006465	65178592	12898656	688	63696											
INSR	3643	broad.mit.edu	37	chr19	7120746	7120746	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgtttcatagatgtctcTggtcattccaaagtctgaca	10	14	7	10	1	4	2	2	1	2	1	7	2	6	2	2	1	0	1	2	1	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:7120746T>C	ENST00000341500.5	-	19	3547	c.3508A>G	c.(3508-3510)Aga>Gga	p.R1170G	INSR_ENST00000302850.5_Missense_Mutation_p.R1182G	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1182	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGATGTCTCTGGTCATTCCA	0.542													8	65					0	0	0	0	C	7120746	T	C	7120746	3	2	339	1	0	0	0	0	1	0	0	0	7826	1588	55	5	616	5	INSR	19	7120746	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08		7120746	52008237	689	63697											
CD209	30835	broad.mit.edu	37	chr19	7810929	7810929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggttctggtagatcgcgtCttgcctggattgttcctgac	5	14	12	10	2	2	2	0	1	2	1	4	3	3	3	2	3	1	3	2	3	1	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:7810929C>T	ENST00000315599.7	-	4	245	c.223G>A	c.(223-225)Gac>Aac	p.D75N	CD209_ENST00000601951.1_Missense_Mutation_p.D51N|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.D31N|CD209_ENST00000315591.8_Missense_Mutation_p.D51N|CD209_ENST00000204801.8_Missense_Mutation_p.D31N|CD209_ENST00000394173.4_Missense_Mutation_p.D75N|CD209_ENST00000354397.6_Missense_Mutation_p.D75N|CD209_ENST00000301357.8_Missense_Mutation_p.D31N|CD209_ENST00000602261.1_Missense_Mutation_p.D75N|CD209_ENST00000593660.1_Missense_Mutation_p.D51N|CD209_ENST00000601256.1_Missense_Mutation_p.D51N	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	75					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGATCGCGTCTTGCCTGGAT	0.507													12	76					0	0	0	0	T	7810929	C	T	7810929	3	4	339	1	0	0	0	0	1	0	0	0	3013	913	32	2	1007	2	CD209	19	7810929	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	690183	7810929	51318054	690	63698											
ADAMTS10	81794	broad.mit.edu	37	chr19	8661981	8661981	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacttacagaagctgtccagGgacttcccggcatggtgggt	8	9	13	11	1	0	1	0	0	0	1	2	2	2	2	2	4	2	2	2	4	2	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:8661981G>A	ENST00000270328.4	-	7	1196	c.930C>T	c.(928-930)tcC>tcT	p.S310S	ADAMTS10_ENST00000597188.1_Silent_p.S310S			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	310	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGCTGTCCAGGGACTTCCCGG	0.587													4	56					0	0	0	0	A	8661981	G	A	8661981	2	1	339	1	0	0	0	0	0	0	0	1	256	1219	43	4		4	ADAMTS10	19	8661981	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	851052	8661981	50467002	691	63699											
MUC16	94025	broad.mit.edu	37	chr19	9009597	9009597	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcactaaccagaccctgCaggaccctctctgtggtgtt	8	9	11	13	0	1	1	0	0	1	1	2	2	1	2	3	3	2	3	3	3	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:9009597C>A	ENST00000397910.4	-	39	39332	c.39129G>T	c.(39127-39129)ctG>ctT	p.L13043L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13045	SEA 7.				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						CCAGACCCTGCAGGACCCTCT	0.552													14	81					0.0167234	0.0180022	1	0	A	9009597	C	A	9009597	2	1	339	1	0	0	0	0	0	0	0	1	10043	697	25	4		4	MUC16	19	9009597	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	347616	9009597	50119386	692	63700											
MUC16	94025	broad.mit.edu	37	chr19	9087443	9087443	+	Frame_Shift_Del	DEL	C	C	-																															actggtactcagccatgttgCcatggggagagtgattgtgg																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:9087443delC	ENST00000397910.4	-	1	4575	c.4372delG	c.(4372-4374)cafs	p.A1458fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1458	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						AGCCATGTTGCCATGGGGAGA	0.488													21	85	---	---	---	---					-	9087443	C	-	9087443	7	5	339	1	0	1	0	1	0	0	0	0	10043	739	26	0	39487	0	MUC16	19	9087443	Frame_Shift_Del	DEL	C	TCGA-CV-A45Z-01A-21D-A25D-08	77846	9087443	50041540	693	63701											
ZNF317	57693	broad.mit.edu	37	chr19	9271381	9271381	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacctcaaagagcacgtgAggaatcacacgggggagaag	14	3	13	11	2	2	3	2	1	0	2	2	5	2	4	2	3	1	1	2	3	3	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:9271381A>T	ENST00000247956.6	+	7	1365	c.1060A>T	c.(1060-1062)Agg>Tgg	p.R354W	ZNF317_ENST00000360385.3_Missense_Mutation_p.R322W	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AGAGCACGTGAGGAATCACAC	0.567													5	42					0	0	0	0	T	9271381	A	T	9271381	3	4	339	1	0	0	0	0	1	0	0	0	17930	295	11	5	1082	5	ZNF317	19	9271381	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	183938	9271381	49857602	694	63702											
DNMT1	1786	broad.mit.edu	37	chr19	10271081	10271081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctttgggggtcgttttgCgtctcttctcctcctacaca	3	17	9	12	2	3	0	0	0	3	0	7	0	4	0	2	2	2	2	2	2	1	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:10271081C>A	ENST00000340748.4	-	13	1209	c.974G>T	c.(973-975)cGc>cTc	p.R325L	DNMT1_ENST00000359526.4_Missense_Mutation_p.R341L|DNMT1_ENST00000540357.1_Missense_Mutation_p.R325L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	325	Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGTCGTTTTGCGTCTCTTCTC	0.388													3	29					0.115264	0.120258	1	0	A	10271081	C	A	10271081	3	1	339	1	0	0	0	0	1	0	0	0	4711	768	27	3	3988	3	DNMT1	19	10271081	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	999700	10271081	48857902	695	63703											
TYK2	7297	broad.mit.edu	37	chr19	10464866	10464866	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatctcgccagtgccgtcGttggtcggatcgtagcagta	7	10	12	12	5	1	0	0	0	1	0	5	1	1	1	3	2	2	4	3	2	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:10464866G>A	ENST00000525621.1	-	20	3241	c.2760C>T	c.(2758-2760)aaC>aaT	p.N920N	TYK2_ENST00000264818.6_Silent_p.N920N|TYK2_ENST00000524462.1_Silent_p.N735N	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	920	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGTGCCGTCGTTGGTCGGAT	0.647													8	40					0	0	0	0	A	10464866	G	A	10464866	2	1	339	1	0	0	0	0	0	0	0	1	16906	1136	40	1		1	TYK2	19	10464866	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	193785	10464866	48664117	696	63704											
ZNF799	90576	broad.mit.edu	37	chr19	12501532	12501532	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccacattgttgacactcAtagggtttctctctcatgtg	8	16	7	10	0	3	1	2	1	2	0	5	1	3	1	1	1	1	2	1	1	2	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:12501532A>G	ENST00000419318.1	-	4	2333	c.1584T>C	c.(1582-1584)taT>taC	p.Y528Y	ZNF799_ENST00000430385.3_Silent_p.Y560Y|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GTTGACACTCATAGGGTTTCT	0.418													11	125					0	0	0	0	G	12501532	A	G	12501532	2	3	339	1	0	0	0	0	0	0	0	1	18259	224	8	5		5	ZNF799	19	12501532	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	2036666	12501532	46627451	697	63705											
RAD23A	5886	broad.mit.edu	37	chr19	13063836	13063836	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacttggctgccaacttcctCctgagtcagaactttgatga	10	12	8	11	0	1	4	1	3	0	1	3	4	3	4	3	1	4	1	3	1	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:13063836C>A	ENST00000586534.1	+	9	1126	c.1065C>A	c.(1063-1065)ctC>ctA	p.L355L	RAD23A_ENST00000541222.1_Silent_p.L190L|RAD23A_ENST00000316856.3_Silent_p.L354L|RAD23A_ENST00000592268.1_Silent_p.L300L			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	355	HIV-1 vpr binding.|UBA 2.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CCAACTTCCTCCTGAGTCAGA	0.483								Nucleotide excision repair (NER)					6	51					0.00116845	0.00137597	1	0	A	13063836	C	A	13063836	2	1	339	1	0	0	0	0	0	0	0	1	13064	842	30	2		2	RAD23A	19	13063836	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	562304	13063836	46065147	698	63706											
ZSWIM4	65249	broad.mit.edu	37	chr19	13919658	13919658	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctcccggcaggtgccccaGaccccaccgccggcgcagga	6	2	12	21	4	0	1	0	0	0	1	1	2	1	2	8	4	1	2	8	4	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:13919658G>C	ENST00000254323.2	+	4	910	c.721G>C	c.(721-723)Gac>Cac	p.D241H	ZSWIM4_ENST00000440752.2_5'UTR	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	241							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGGTGCCCCAGACCCCACCGC	0.592													3	8					0	0	0	0	C	13919658	G	C	13919658	3	2	339	1	0	0	0	0	1	0	0	0	18334	942	33	2	735	2	ZSWIM4	19	13919658	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	855822	13919658	45209325	699	63707											
PODNL1	79883	broad.mit.edu	37	chr19	14043638	14043638	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggagctcatgccaggtGcctggcccgatgtcgccgac	5	8	14	14	3	1	0	1	0	0	0	2	3	1	1	4	3	3	2	4	3	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:14043638G>T	ENST00000538517.2	-	6	1390	c.1146C>A	c.(1144-1146)ggC>ggA	p.G382G	PODNL1_ENST00000254320.3_Silent_p.G391G|PODNL1_ENST00000339560.5_Silent_p.G473G|PODNL1_ENST00000538371.2_Silent_p.G471G	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	473	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CATGCCAGGTGCCTGGCCCGA	0.701													6	49					0.00116845	0.00137597	1	0	T	14043638	G	T	14043638	2	4	339	1	0	0	0	0	0	0	0	1	12251	1306	46	4		4	PODNL1	19	14043638	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	123980	14043638	45085345	700	63708											
CYP4F11	57834	broad.mit.edu	37	chr19	16040321	16040321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggcataaaatgaggagggGgaaggtaggacccagccaca	14	4	16	7	0	0	1	0	1	0	0	0	4	0	4	2	6	1	2	2	6	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:16040321G>A	ENST00000326742.7	-	2	290	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	CYP4F11_ENST00000248041.7_Missense_Mutation_p.P97S|CYP4F11_ENST00000402119.3_Missense_Mutation_p.P97S			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	97					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ATGAGGAGGGGGAAGGTAGGA	0.542													9	122					0	0	0	0	A	16040321	G	A	16040321	3	1	339	1	0	0	0	0	1	0	0	0	4218	1232	43	4	1329	4	CYP4F11	19	16040321	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1996683	16040321	43088662	701	63709											
FCHO1	23149	broad.mit.edu	37	chr19	17886905	17886905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgggctccagcctgcagcCccgaggcagcagcggcacag	7	2	14	18	3	0	0	0	0	0	0	1	1	1	0	5	3	5	5	5	3	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:17886905C>A	ENST00000594202.1	+	16	1396	c.1117C>A	c.(1117-1119)Ccc>Acc	p.P373T	FCHO1_ENST00000539407.1_Missense_Mutation_p.P373T|FCHO1_ENST00000389133.4_Missense_Mutation_p.P373T|FCHO1_ENST00000595033.1_Missense_Mutation_p.P323T|FCHO1_ENST00000252771.7_Missense_Mutation_p.P373T|FCHO1_ENST00000597512.1_Missense_Mutation_p.P380T|FCHO1_ENST00000596951.1_Missense_Mutation_p.P373T|FCHO1_ENST00000600676.1_Missense_Mutation_p.P373T|FCHO1_ENST00000596536.1_Missense_Mutation_p.P373T	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	373										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						AGCCTGCAGCCCCGAGGCAGC	0.682													11	95					1.58986e-06	2.32014e-06	1	0	A	17886905	C	A	17886905	3	1	339	1	0	0	0	0	1	0	0	0	5832	623	22	4	1167	4	FCHO1	19	17886905	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1846584	17886905	41242078	702	63710											
KIAA1683	80726	broad.mit.edu	37	chr19	18368452	18368452	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcgatggtcagatacTgtcctggctctgccatcctg	8	10	11	12	1	2	1	1	0	1	1	4	2	4	1	3	2	4	2	3	2	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:18368452T>A	ENST00000392413.3	-	4	3857	c.3642A>T	c.(3640-3642)acA>acT	p.T1214T	KIAA1683_ENST00000600359.2_Silent_p.T981T|KIAA1683_ENST00000600328.2_Silent_p.T1027T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGTCAGATACTGTCCTGGCTC	0.662													16	47					0	0	0	0	A	18368452	T	A	18368452	2	1	339	1	0	0	0	0	0	0	0	1	8302	1567	55	5		5	KIAA1683	19	18368452	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	481547	18368452	40760531	703	63711											
CRTC1	23373	broad.mit.edu	37	chr19	18856674	18856674	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggacaccagccggaccacCcggcaccatgggctggtgga	8	4	14	15	2	0	0	0	0	0	0	0	3	0	3	5	6	1	2	5	6	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:18856674C>T	ENST00000338797.6	+	4	358	c.333C>T	c.(331-333)acC>acT	p.T111T	CRTC1_ENST00000601916.1_Silent_p.T20T|CRTC1_ENST00000594658.1_Silent_p.T54T|CRTC1_ENST00000321949.8_Silent_p.T95T	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	95					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCCGGACCACCCGGCACCATG	0.632													7	78					0	0	0	0	T	18856674	C	T	18856674	2	4	339	1	0	0	0	0	0	0	0	1	3929	610	22	4		4	CRTC1	19	18856674	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	488222	18856674	40272309	704	63712											
GATAD2A	54815	broad.mit.edu	37	chr19	19612150	19612150	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaacaggagattgagcagcgGctcctgcagcagggcacggc	10	4	16	11	2	0	2	0	1	0	1	1	4	1	2	1	4	5	5	1	4	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:19612150G>C	ENST00000404158.1	+	11	1846	c.1428G>C	c.(1426-1428)cgG>cgC	p.R476R	GATAD2A_ENST00000252577.5_Silent_p.R475R|GATAD2A_ENST00000537887.1_Silent_p.R104R|GATAD2A_ENST00000360315.3_Silent_p.R475R|GATAD2A_ENST00000429563.2_Silent_p.R303R|GATAD2A_ENST00000358713.3_Silent_p.R475R			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	475					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						TTGAGCAGCGGCTCCTGCAGC	0.667													5	15					0	0	0	0	C	19612150	G	C	19612150	2	2	339	1	0	0	0	0	0	0	0	1	6309	1190	42	4		4	GATAD2A	19	19612150	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	755476	19612150	39516833	705	63713											
ZNF493	284443	broad.mit.edu	37	chr19	21605835	21605835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatttacagttaagaaaagGatgtaaaagtatgaatgagt	18	11	11	1	0	0	3	0	2	0	1	0	5	0	5	0	2	1	3	0	2	8	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:21605835G>T	ENST00000392288.2	+	4	483	c.374G>T	c.(373-375)gGa>gTa	p.G125V	ZNF493_ENST00000355504.4_5'UTR|ZNF493_ENST00000596302.1_3'UTR|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTAAGAAAAGGATGTAAAAGT	0.328													13	88					5.50884e-06	7.74284e-06	1	0	T	21605835	G	T	21605835	3	4	339	1	0	0	0	0	1	0	0	0	18039	1174	41	2	451	2	ZNF493	19	21605835	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1993685	21605835	37523148	706	63714											
ZNF43	7594	broad.mit.edu	37	chr19	21990520	21990520	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtagtaaggtttgaataTtggttgaaagctttgccaca	11	15	11	4	0	0	2	0	2	0	0	0	2	0	2	1	2	2	5	1	2	5	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:21990520T>C	ENST00000594012.1	-	7	2815	c.2301A>G	c.(2299-2301)caA>caG	p.Q767Q	ZNF43_ENST00000598381.1_Silent_p.Q767Q|ZNF43_ENST00000595461.1_Silent_p.Q767Q|ZNF43_ENST00000354959.4_Silent_p.Q773Q	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	773					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGTTTGAATATTGGTTGAAAG	0.338													3	22					0	0	0	0	C	21990520	T	C	21990520	2	2	339	1	0	0	0	0	0	0	0	1	17998	1490	52	5		5	ZNF43	19	21990520	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	384685	21990520	37138463	707	63715											
TSHZ3	57616	broad.mit.edu	37	chr19	31768095	31768095	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaatgtcagacttctcggaGatgctggaaggagtggagga	11	9	15	6	1	3	2	2	0	1	2	4	7	3	6	0	5	1	1	0	5	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:31768095G>A	ENST00000240587.4	-	2	2931	c.2604C>T	c.(2602-2604)atC>atT	p.I868I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	868					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACTTCTCGGAGATGCTGGAAG	0.567													10	54					0	0	0	0	A	31768095	G	A	31768095	2	1	339	1	0	0	0	0	0	0	0	1	16720	932	33	2		2	TSHZ3	19	31768095	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	9777575	31768095	27360888	708	63716											
LRFN3	79414	broad.mit.edu	37	chr19	36430792	36430792	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccctggatgattgtgcCgagacactggaggacctcga	8	7	15	11	3	0	2	0	1	0	1	1	7	0	5	3	4	1	0	3	4	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:36430792C>A	ENST00000588831.1	+	3	1519	c.465C>A	c.(463-465)gcC>gcA	p.A155A	LRFN3_ENST00000246529.3_Silent_p.A155A			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	155					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATGATTGTGCCGAGACACTGG	0.677													13	54					2.27111e-07	3.45194e-07	1	0	A	36430792	C	A	36430792	2	1	339	1	0	0	0	0	0	0	0	1	9003	639	23	3		3	LRFN3	19	36430792	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	4662697	36430792	22698191	709	63717											
CYP2B6	1555	broad.mit.edu	37	chr19	41509945	41509945	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgtcttcacggtacacctgGgaccgaggcccgtggtcatg	7	8	13	13	4	3	0	2	0	1	0	3	2	3	1	3	4	1	1	3	4	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:41509945G>T	ENST00000324071.4	+	2	218	c.211G>T	c.(211-213)Gga>Tga	p.G71*	CYP2B6_ENST00000330446.5_Nonsense_Mutation_p.G31*|CYP2B6_ENST00000593831.1_5'UTR|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	71					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GGTACACCTGGGACCGAGGCC	0.557													5	40					1.024e-07	1.58807e-07	1	0	T	41509945	G	T	41509945	4	4	339	1	0	0	0	0	0	1	0	0	4196	1233	43	4	217	4	CYP2B6	19	41509945	Nonsense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	5079153	41509945	17619038	710	63718											
DMRTC2	63946	broad.mit.edu	37	chr19	42351701	42351701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaggcttgcgagtgtCacaaatgtgtcctcatcctg	7	13	9	12	1	3	0	2	0	1	0	6	1	6	0	3	1	1	1	3	1	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:42351701C>A	ENST00000269945.3	+	2	256	c.205C>A	c.(205-207)Cac>Aac	p.H69N	DMRTC2_ENST00000596827.1_Missense_Mutation_p.H69N|DMRTC2_ENST00000602098.1_3'UTR	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	69					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						TTGCGAGTGTCACAAATGTGT	0.592													6	59					0.0215528	0.0230114	1	0	A	42351701	C	A	42351701	3	1	339	1	0	0	0	0	1	0	0	0	4628	826	29	2	207	2	DMRTC2	19	42351701	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	841756	42351701	16777282	711	63719											
ATP1A3	478	broad.mit.edu	37	chr19	42482334	42482334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcgacacttgcccaccGcgtcagggacggctgcccgg	5	5	14	17	6	1	0	1	0	0	0	1	2	1	1	3	3	3	2	3	3	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:42482334G>A	ENST00000545399.1	-	13	1967	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V	ATP1A3_ENST00000602133.1_Missense_Mutation_p.A562V|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A603V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A592V	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	592					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTTGCCCACCGCGTCAGGGAC	0.617													7	40					0	0	0	0	A	42482334	G	A	42482334	3	1	339	1	0	0	0	0	1	0	0	0	1134	1087	38	1	1310	1	ATP1A3	19	42482334	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	130633	42482334	16646649	712	63720											
GRIK5	2901	broad.mit.edu	37	chr19	42566966	42566966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatgctgggctagaggaggGcccaaggacagacacaaccc	13	3	14	11	0	0	3	0	0	0	3	0	5	0	5	2	4	2	2	2	4	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:42566966G>T	ENST00000262895.3	-	3	285	c.286C>A	c.(286-288)Ccc>Acc	p.P96T	GRIK5_ENST00000301218.4_Missense_Mutation_p.P96T|GRIK5_ENST00000593562.1_Missense_Mutation_p.P96T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	96						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTAGAGGAGGGCCCAAGGACA	0.627													6	33					0.00116845	0.00137597	1	0	T	42566966	G	T	42566966	3	4	339	1	0	0	0	0	1	0	0	0	6827	1203	42	4	2724	4	GRIK5	19	42566966	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	84632	42566966	16562017	713	63721											
PSG7	5676	broad.mit.edu	37	chr19	43428834	43428834	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtggctcagacatcaggtAcaaggattttcccatgaaat	13	10	10	8	0	2	2	2	1	0	1	3	4	3	3	1	3	1	2	1	3	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:43428834A>T	ENST00000406070.2	-	0	1482					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				gacatcaggtacaaggatttt	0.423													4	21					0	0	0	0	T	43428834	A	T	43428834	1	4	339	0	1	0	0	0	0	0	0	0	12739	406	14	5		5	PSG7	19	43428834	RNA	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	861868	43428834	15700149	714	63722											
PLA2G4C	8605	broad.mit.edu	37	chr19	48588343	48588343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgtccaatgcttttagCattagcaacagcccttctcc	10	12	7	12	0	1	0	0	0	1	0	3	0	2	0	3	1	5	3	3	1	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:48588343C>A	ENST00000354276.3	-	10	1144	c.817G>T	c.(817-819)Gct>Tct	p.A273S	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A273S|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A283S|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.A273S	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	273	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		ATGCTTTTAGCATTAGCAACA	0.378													3	19					0.004672	0.00530382	1	0	A	48588343	C	A	48588343	3	1	339	1	0	0	0	0	1	0	0	0	12075	710	25	4	844	4	PLA2G4C	19	48588343	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	5159509	48588343	10540640	715	63723											
GRWD1	83743	broad.mit.edu	37	chr19	48954341	48954341	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atccgcatctgggacatccgGgcagcccccagcaaggcctg	8	5	12	16	2	1	0	0	0	1	0	3	1	3	1	5	3	2	3	5	3	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:48954341G>T	ENST00000253237.5	+	6	1109	c.876G>T	c.(874-876)cgG>cgT	p.R292R		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	292						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GGGACATCCGGGCAGCCCCCA	0.662													6	35					0.00198382	0.00229771	1	0	T	48954341	G	T	48954341	2	4	339	1	0	0	0	0	0	0	0	1	6861	1219	43	4		4	GRWD1	19	48954341	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	365998	48954341	10174642	716	63724											
NUP62	23636	broad.mit.edu	37	chr19	50412511	50412511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgaagggcaacgtggcaGgtgccgtgggctgggctgaa	8	6	20	7	2	0	2	0	2	0	0	0	3	0	2	1	5	2	4	1	5	3	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:50412511G>T	ENST00000596217.1	-	2	2441	c.554C>A	c.(553-555)cCt>cAt	p.P185H	IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.P185H|NUP62_ENST00000413454.1_Missense_Mutation_p.P185H|NUP62_ENST00000422090.2_Missense_Mutation_p.P185H|NUP62_ENST00000597029.1_Missense_Mutation_p.P185H|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.P185H			P37198	NUP62_HUMAN	nucleoporin 62kDa	185	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CAACGTGGCAGGTGCCGTGGG	0.632													16	59					1.15088e-07	1.76391e-07	1	0	T	50412511	G	T	50412511	3	4	339	1	0	0	0	0	1	0	0	0	10839	1000	35	4	1018	4	NUP62	19	50412511	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1458170	50412511	8716472	717	63725											
SIGLEC11	114132	broad.mit.edu	37	chr19	50462124	50462124	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctttggccctccaggaccGggagggatgtgccgttcccg	4	8	16	13	3	0	0	0	0	0	0	2	3	2	3	5	5	1	2	5	5	0	2	rs149136670	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:50462124G>C	ENST00000447370.2	-	7	1229	c.1139C>G	c.(1138-1140)cCg>cGg	p.P380R	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.P380R	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	380	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding	p.P368R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCAGGACCGGGAGGGATGT	0.672													5	52					0	0	0	0	C	50462124	G	C	50462124	3	2	339	1	0	0	0	0	1	0	0	0	14395	1116	39	3	977	3	SIGLEC11	19	50462124	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	49613	50462124	8666859	718	63726											
MYBPC2	4606	broad.mit.edu	37	chr19	50944198	50944198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgatgacctaggcatccccCcggagatttgggagctcctg	8	8	12	13	2	0	2	0	1	0	1	2	5	2	3	5	3	1	2	5	3	1	2	rs143152934	by1000genomes	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:50944198C>A	ENST00000357701.5	+	8	685	c.634C>A	c.(634-636)Ccg>Acg	p.P212T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	212					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGGCATCCCCCCGGAGATTTG	0.582													3	21					1	1	1	0	A	50944198	C	A	50944198	3	1	339	1	0	0	0	0	1	0	0	0	10082	623	22	4	664	4	MYBPC2	19	50944198	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	482074	50944198	8184785	719	63727											
NKG7	4818	broad.mit.edu	37	chr19	51875749	51875749	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcagaacatcaggcccAgggagccccccagcagggcc	10	2	13	16	0	2	1	2	0	0	1	2	2	2	2	5	4	3	2	5	4	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:51875749A>G	ENST00000221978.5	-	1	220	c.41T>C	c.(40-42)cTg>cCg	p.L14P	NKG7_ENST00000595217.1_Missense_Mutation_p.L14P|NKG7_ENST00000600427.1_Missense_Mutation_p.L14P	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	14						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CATCAGGCCCAGGGAGCCCCC	0.617													6	40					0	0	0	0	G	51875749	A	G	51875749	3	3	339	1	0	0	0	0	1	0	0	0	10513	188	7	5	472	5	NKG7	19	51875749	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	931551	51875749	7253234	720	63728											
ZNF613	79898	broad.mit.edu	37	chr19	52448286	52448286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaaggcttcattcagAagggaaatctcattgtacat	14	11	10	6	0	3	1	3	0	1	1	4	3	3	3	0	3	1	2	0	3	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:52448286A>G	ENST00000293471.6	+	6	1829	c.1150A>G	c.(1150-1152)Aag>Gag	p.K384E	ZNF613_ENST00000391794.4_Missense_Mutation_p.K348E|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTTCATTCAGAAGGGAAATCT	0.413													8	62					0	0	0	0	G	52448286	A	G	52448286	3	3	339	1	0	0	0	0	1	0	0	0	18133	247	9	5	1164	5	ZNF613	19	52448286	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	572537	52448286	6680697	721	63729											
ZNF615	284370	broad.mit.edu	37	chr19	52497498	52497498	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccatatgagttttctgatgTatattgagctgtgatttctt	8	19	8	6	0	2	4	0	4	2	0	2	4	2	4	1	0	1	3	1	0	3	8			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:52497498T>A	ENST00000602063.1	-	6	1180	c.831A>T	c.(829-831)atA>atT	p.I277I	ZNF615_ENST00000594083.1_Silent_p.I288I|ZNF615_ENST00000598071.1_Silent_p.I288I|ZNF615_ENST00000376716.5_Silent_p.I277I|ZNF615_ENST00000391795.3_Silent_p.I282I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTTTCTGATGTATATTGAGCT	0.393													8	118					0	0	0	0	A	52497498	T	A	52497498	2	1	339	1	0	0	0	0	0	0	0	1	18135	1628	57	5		5	ZNF615	19	52497498	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	49212	52497498	6631485	722	63730											
ZNF611	81856	broad.mit.edu	37	chr19	53208371	53208371	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacatttgtaagatttctctCcagtatgaagtctacgatgg	11	15	8	7	1	2	2	0	1	2	1	4	3	3	2	1	1	2	2	1	1	5	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:53208371C>A	ENST00000543227.1	-	6	2211	c.1937G>T	c.(1936-1938)gGa>gTa	p.G646V	ZNF611_ENST00000319783.1_Missense_Mutation_p.G646V|ZNF611_ENST00000453741.2_Missense_Mutation_p.G577V|ZNF611_ENST00000595798.1_Missense_Mutation_p.G577V|ZNF611_ENST00000602162.1_Missense_Mutation_p.G577V|ZNF611_ENST00000540744.1_Missense_Mutation_p.G646V	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AGATTTCTCTCCAGTATGAAG	0.413													23	154					1.37657e-19	2.34554e-19	1	0	A	53208371	C	A	53208371	3	1	339	1	0	0	0	0	1	0	0	0	18132	855	30	2	184	2	ZNF611	19	53208371	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	710873	53208371	5920612	723	63731											
NLRP12	91662	broad.mit.edu	37	chr19	54297343	54297343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggttttgttactcgaagcGctgccaacctactgtgggtc	8	12	11	10	2	0	0	0	0	0	0	2	1	0	0	2	2	5	3	2	2	5	4	rs146786265	by1000genomes	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:54297343G>A	ENST00000324134.6	-	10	3314	c.3146C>T	c.(3145-3147)gCg>gTg	p.A1049V	NLRP12_ENST00000391772.1_Missense_Mutation_p.A880V|NLRP12_ENST00000345770.5_Missense_Mutation_p.A994V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A992V|NLRP12_ENST00000351894.4_Missense_Mutation_p.A937V|NLRP12_ENST00000391775.3_Missense_Mutation_p.A992V|NLRP12_ENST00000391773.1_Missense_Mutation_p.A1050V|NLRP12_ENST00000354278.3_Missense_Mutation_p.A880V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1049					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TACTCGAAGCGCTGCCAACCT	0.463													6	31					0	0	0	0	A	54297343	G	A	54297343	3	1	339	1	0	0	0	0	1	0	0	0	10544	1087	38	1	43	1	NLRP12	19	54297343	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1088972	54297343	4831640	724	63732											
LAIR1	3903	broad.mit.edu	37	chr19	54872773	54872773	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatggctccccagggggatCacggtgcctggctcagccga	7	6	14	14	2	2	0	2	0	0	0	3	2	3	1	4	5	2	2	4	5	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:54872773C>G	ENST00000391743.3	-	2	340	c.60G>C	c.(58-60)gtG>gtC	p.V20V	LAIR1_ENST00000474878.1_Silent_p.V37V|LAIR1_ENST00000348231.4_Silent_p.V38V|LAIR1_ENST00000391742.2_Silent_p.V38V|LAIR1_ENST00000434277.2_Silent_p.V37V|LAIR1_ENST00000313038.6_Silent_p.V31V|LAIR1_ENST00000463489.1_5'UTR			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	38						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCAGGGGGATCACGGTGCCTG	0.582													12	94					0	0	0	0	G	54872773	C	G	54872773	2	3	339	1	0	0	0	0	0	0	0	1	8655	813	29	2		2	LAIR1	19	54872773	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	575430	54872773	4256210	725	63733											
NLRP9	338321	broad.mit.edu	37	chr19	56249551	56249551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcccatgcctgctttcctgGgtaatgtttgtccagcagct	5	14	9	13	0	0	0	0	0	0	0	3	0	3	0	4	1	4	5	4	1	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:56249551G>T	ENST00000332836.2	-	1	217	c.190C>A	c.(190-192)Cca>Aca	p.P64T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	64	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGCTTTCCTGGGTAATGTTTG	0.463													36	337					1.22384e-17	2.08143e-17	1	0	T	56249551	G	T	56249551	3	4	339	1	0	0	0	0	1	0	0	0	10554	1232	43	4	2821	4	NLRP9	19	56249551	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1376778	56249551	2879432	726	63734											
NLRP13	126204	broad.mit.edu	37	chr19	56423073	56423073	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatggtttgtaatactcactCcagaatttccaagtcccttt	11	15	5	10	0	1	1	1	0	0	1	4	1	4	1	3	1	1	2	3	1	5	5	rs151042282		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:56423073C>A	ENST00000588751.1	-	5	2134	c.2111_splice	c.e5+1	p.E704_splice	NLRP13_ENST00000342929.3_Splice_Site_p.E704_splice			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	704							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AATACTCACTCCAGAATTTCC	0.393													11	66					9.31168e-06	1.29486e-05	1	0	A	56423073	C	A	56423073	5	1	339	1	0	0	0	0	0	0	1	0	10545	869	30	2	1047	2	NLRP13	19	56423073	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	173522	56423073	2705910	727	63735											
ZNF583	147949	broad.mit.edu	37	chr19	56935074	56935074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagaattcatacaggagaGaaaccttatgtgtgtaatgt	15	11	10	5	0	1	2	1	0	0	2	1	5	1	3	1	1	2	1	1	1	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:56935074G>C	ENST00000333201.9	+	5	1257	c.1047G>C	c.(1045-1047)gaG>gaC	p.E349D	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.E349D	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ATACAGGAGAGAAACCTTATG	0.408													13	67					0	0	0	0	C	56935074	G	C	56935074	3	2	339	1	0	0	0	0	1	0	0	0	18110	933	33	2	1061	2	ZNF583	19	56935074	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	512001	56935074	2193909	728	63736											
ZNF470	388566	broad.mit.edu	37	chr19	57089767	57089767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgtaaggaatgtagcaaagCcttcagccaggttgcccatc	11	9	11	10	0	1	0	1	0	0	0	2	1	1	1	3	2	4	4	3	2	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:57089767C>T	ENST00000330619.8	+	6	2656	c.1970C>T	c.(1969-1971)gCc>gTc	p.A657V	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.A657V	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGTAGCAAAGCCTTCAGCCAG	0.423													8	53					0	0	0	0	T	57089767	C	T	57089767	3	4	339	1	0	0	0	0	1	0	0	0	18024	739	26	4	1984	4	ZNF470	19	57089767	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	154693	57089767	2039216	729	63737											
USP29	57663	broad.mit.edu	37	chr19	57640633	57640633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaacaagaaatataagaCagattccttgaaatatatac	21	9	4	7	0	0	4	0	1	0	3	1	4	1	4	2	0	2	0	2	0	9	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:57640633C>T	ENST00000254181.4	+	4	1044	c.590C>T	c.(589-591)aCa>aTa	p.T197I	USP29_ENST00000598197.1_Missense_Mutation_p.T197I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	197					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAATATAAGACAGATTCCTTG	0.368													12	43					0	0	0	0	T	57640633	C	T	57640633	3	4	339	1	0	0	0	0	1	0	0	0	17155	478	17	4	592	4	USP29	19	57640633	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	550866	57640633	1488350	730	63738											
ZNF460	10794	broad.mit.edu	37	chr19	57796025	57796025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgatgctggagacctGtgggcttctggtcgcactgg	5	10	18	8	1	1	2	0	1	1	1	2	4	1	3	1	6	1	3	1	6	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:57796025G>T	ENST00000360338.3	+	2	459	c.137G>T	c.(136-138)tGt>tTt	p.C46F	ZNF460_ENST00000537645.1_Missense_Mutation_p.C5F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTGGAGACCTGTGGGCTTCTG	0.582													6	66					3.59834e-05	4.78558e-05	1	0	T	57796025	G	T	57796025	3	4	339	1	0	0	0	0	1	0	0	0	18019	1377	48	4	143	4	ZNF460	19	57796025	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	155392	57796025	1332958	731	63739											
ZSCAN4	201516	broad.mit.edu	37	chr19	58190154	58190154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatccacacaggagaaaagCcttatacatgtcccttttgt	13	11	7	10	0	0	1	0	0	0	1	2	3	2	1	3	1	2	0	3	1	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:58190154C>A	ENST00000318203.5	+	5	1880	c.1183C>A	c.(1183-1185)Cct>Act	p.P395T		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	395					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGAGAAAAGCCTTATACATG	0.468													11	81					3.86212e-05	5.08466e-05	1	0	A	58190154	C	A	58190154	3	1	339	1	0	0	0	0	1	0	0	0	18328	739	26	4	1193	4	ZSCAN4	19	58190154	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	394129	58190154	938829	732	63740											
ANGPT4	51378	broad.mit.edu	37	chr20	896685	896685	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtccctggagacctcaggcCccggagggcagggctcagac	8	4	15	14	1	2	2	2	0	0	2	3	4	3	3	4	5	0	2	4	5	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:896685C>A	ENST00000381922.3	-	1	275	c.173G>T	c.(172-174)gGg>gTg	p.G58V	ANGPT4_ENST00000546022.1_Missense_Mutation_p.G58V	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	58					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GACCTCAGGCCCCGGAGGGCA	0.617													6	70					0.00116845	0.00137597	1	0	A	896685	C	A	896685	3	1	339	1	0	0	0	0	1	0	0	0	612	623	22	4	1374	4	ANGPT4	20	896685	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08		896685	62128835	733	63741											
TGM6	343641	broad.mit.edu	37	chr20	2397912	2397912	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggtgtacagcaaggcGgtgaacaggctgttcggcgt	9	7	17	8	3	0	1	0	1	0	0	1	1	0	1	0	6	3	5	0	6	3	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:2397912G>T	ENST00000202625.2	+	10	1432	c.1371G>T	c.(1369-1371)gcG>gcT	p.A457A	TGM6_ENST00000381423.1_Silent_p.A457A	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	457					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACAGCAAGGCGGTGAACAGGC	0.607													4	12					0.00024832	0.000309133	1	0	T	2397912	G	T	2397912	2	4	339	1	0	0	0	0	0	0	0	1	15928	1103	39	3		3	TGM6	20	2397912	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1501227	2397912	60627608	734	63742											
PROKR2	128674	broad.mit.edu	37	chr20	5282689	5282689	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgacaccagtgggtcaCttcagcctgatacagtccac	9	10	10	12	0	2	2	2	2	0	0	3	2	3	2	3	1	2	0	3	1	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:5282689C>G	ENST00000546004.1	-	3	1398	c.1152G>C	c.(1150-1152)aaG>aaC	p.K384N	PROKR2_ENST00000217270.3_Missense_Mutation_p.K384N			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	384						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGTGGGTCACTTCAGCCTGA	0.552										HNSCC(71;0.22)			5	20					0	0	0	0	G	5282689	C	G	5282689	3	3	339	1	0	0	0	0	1	0	0	0	12633	564	20	4	5	4	PROKR2	20	5282689	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2884777	5282689	57742831	735	63743											
PROKR2	128674	broad.mit.edu	37	chr20	5282735	5282735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtggtgggcaccccgttgGttctgaggtcaaggtcagca	6	10	15	10	1	3	1	2	1	1	0	3	1	3	1	2	5	1	4	2	5	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:5282735G>T	ENST00000546004.1	-	3	1352	c.1106C>A	c.(1105-1107)aCc>aAc	p.T369N	PROKR2_ENST00000217270.3_Missense_Mutation_p.T369N			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	369						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CACCCCGTTGGTTCTGAGGTC	0.542										HNSCC(71;0.22)			7	38					8.12818e-05	0.000103873	1	0	T	5282735	G	T	5282735	3	4	339	1	0	0	0	0	1	0	0	0	12633	1261	44	4	51	4	PROKR2	20	5282735	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	46	5282735	57742785	736	63744											
TRMT6	51605	broad.mit.edu	37	chr20	5921954	5921954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagtccagcaaagacagcaGcaggggagtggggtggaaac	15	3	16	7	0	0	1	0	0	0	1	1	3	1	3	1	5	4	3	1	5	3	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:5921954G>A	ENST00000203001.2	-	9	1280	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Silent_p.L214L	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	384					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						AAAGACAGCAGCAGGGGAGTG	0.448													8	63					0	0	0	0	A	5921954	G	A	5921954	2	1	339	1	0	0	0	0	0	0	0	1	16663	962	34	4		4	TRMT6	20	5921954	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	639219	5921954	57103566	737	63745											
HAO1	54363	broad.mit.edu	37	chr20	7915269	7915269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacattccggagcatccttgGatacagcttccatctagaat	12	11	7	11	1	1	1	0	0	1	1	4	3	4	3	3	2	4	2	3	2	4	5			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:7915269G>A	ENST00000378789.3	-	2	202	c.151C>T	c.(151-153)Cca>Tca	p.P51S		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	51	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCATCCTTGGATACAGCTTC	0.383													7	30					0	0	0	0	A	7915269	G	A	7915269	3	1	339	1	0	0	0	0	1	0	0	0	7001	1174	41	2	989	2	HAO1	20	7915269	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1993315	7915269	55110251	738	63746											
MACROD2	140733	broad.mit.edu	37	chr20	15913980	15913980	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaagagcagagccaagatGcaggtaggctcagatttctt	12	9	13	7	0	2	4	1	0	1	4	2	5	2	5	1	3	3	4	1	3	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:15913980G>T	ENST00000217246.4	+	11	1230	c.835G>T	c.(835-837)Gca>Tca	p.A279S	MACROD2_ENST00000402914.1_Missense_Mutation_p.A44S|MACROD2_ENST00000378058.3_Missense_Mutation_p.A44S|MACROD2_ENST00000310348.4_Missense_Mutation_p.A279S	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	279	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GAGCCAAGATGCAGGTAGGCT	0.418													5	22					0.184627	0.188964	1	0	T	15913980	G	T	15913980	3	4	339	1	0	0	0	0	1	0	0	0	9211	1319	46	4	877	4	MACROD2	20	15913980	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	7998711	15913980	47111540	739	63747											
KIF16B	55614	broad.mit.edu	37	chr20	16506793	16506793	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagaataaaaagaaaagtCataggtgaaggtcttggtcc	17	8	11	5	0	2	3	1	1	1	2	3	3	3	3	1	3	1	1	1	3	8	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:16506793C>G	ENST00000354981.2	-	3	332	c.175G>C	c.(175-177)Gac>Cac	p.D59H	KIF16B_ENST00000408042.1_Missense_Mutation_p.D59H|KIF16B_ENST00000355755.3_Missense_Mutation_p.D59H|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	59	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAAGAAAAGTCATAGGTGAAG	0.328													10	75					0	0	0	0	G	16506793	C	G	16506793	3	3	339	1	0	0	0	0	1	0	0	0	8329	826	29	2	3874	2	KIF16B	20	16506793	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	592813	16506793	46518727	740	63748											
CD93	22918	broad.mit.edu	37	chr20	23065565	23065565	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacgtcctggcactgagtcCcgtcctccccggccaggacg	5	6	11	19	4	0	1	0	1	0	0	4	2	4	2	7	3	0	1	7	3	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:23065565C>G	ENST00000246006.4	-	1	1412	c.1265G>C	c.(1264-1266)gGg>gCg	p.G422A		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	422	EGF-like 4; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCACTGAGTCCCGTCCTCCCC	0.647													10	50					0	0	0	0	G	23065565	C	G	23065565	3	3	339	1	0	0	0	0	1	0	0	0	3076	623	22	4	701	4	CD93	20	23065565	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	6558772	23065565	39959955	741	63749											
HNF4A	3172	broad.mit.edu	37	chr20	43043208	43043208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagattgccagcatcgCagatgtgtgtgagtccatga	12	9	13	7	1	0	5	0	2	0	3	2	6	1	5	2	0	2	2	2	0	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:43043208C>T	ENST00000316099.3	+	5	643	c.554C>T	c.(553-555)gCa>gTa	p.A185V	HNF4A_ENST00000415691.1_Missense_Mutation_p.A185V|HNF4A_ENST00000457232.1_Missense_Mutation_p.A163V|HNF4A_ENST00000443598.2_Missense_Mutation_p.A185V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	185					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCAGCATCGCAGATGTGTGT	0.572													4	20					0	0	0	0	T	43043208	C	T	43043208	3	4	339	1	0	0	0	0	1	0	0	0	7303	710	25	4	625	4	HNF4A	20	43043208	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	19977643	43043208	19982312	742	63750											
SEMG2	6407	broad.mit.edu	37	chr20	43851452	43851452	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaaccaggtaagaattccTagtcaagctcaagagtatgg	16	8	9	8	0	2	2	2	0	0	2	3	2	3	2	2	2	2	3	2	2	8	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:43851452T>G	ENST00000372769.3	+	2	1269	c.1179T>G	c.(1177-1179)ccT>ccG	p.P393P		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	393	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TAAGAATTCCTAGTCAAGCTC	0.403													19	86					0	0	0	0	G	43851452	T	G	43851452	2	3	339	1	0	0	0	0	0	0	0	1	14132	1509	53	5		5	SEMG2	20	43851452	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	808244	43851452	19174068	743	63751											
RBPJL	11317	broad.mit.edu	37	chr20	43944845	43944845	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcctctccctgccccaagGaggcgaacagggctctgctt	7	7	12	15	1	2	0	0	0	2	0	3	2	2	1	4	4	3	2	4	4	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:43944845G>T	ENST00000343694.3	+	10	1111	c.1039G>T	c.(1039-1041)Gag>Tag	p.E347*	RBPJL_ENST00000372741.3_Nonsense_Mutation_p.E347*|RBPJL_ENST00000372743.1_Nonsense_Mutation_p.E347*|RBPJL_ENST00000464504.1_Intron	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	347					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTGCCCCAAGGAGGCGAACAG	0.627													5	30					0.014758	0.0159053	1	0	T	43944845	G	T	43944845	4	4	339	1	0	0	0	0	0	1	0	0	13244	1175	41	2	1077	2	RBPJL	20	43944845	Nonsense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	93393	43944845	19080675	744	63752											
NEURL2	140825	broad.mit.edu	37	chr20	44519404	44519404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacgcagatgtccgcaccagCccagctctttctcctcgatc	7	9	8	17	3	2	1	0	0	2	1	6	3	3	1	4	0	2	3	4	0	0	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:44519404C>A	ENST00000372518.4	-	1	522	c.227G>T	c.(226-228)gGc>gTc	p.G76V		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	76	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TCCGCACCAGCCCAGCTCTTT	0.682													7	15					0.00198382	0.00229771	1	0	A	44519404	C	A	44519404	3	1	339	1	0	0	0	0	1	0	0	0	10416	739	26	4	638	4	NEURL2	20	44519404	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	574559	44519404	18506116	745	63753											
ZMYND8	23613	broad.mit.edu	37	chr20	45927650	45927650	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagggtctgtggtgagTggctgcttcatatagtaaaa	11	12	12	6	0	3	1	2	1	1	0	3	1	3	1	0	3	2	3	0	3	5	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:45927650T>C	ENST00000311275.7	-	4	469	c.216A>G	c.(214-216)ccA>ccG	p.P72P	ZMYND8_ENST00000461685.1_Silent_p.P92P|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000355972.4_Silent_p.P72P|ZMYND8_ENST00000352431.2_Silent_p.P92P|ZMYND8_ENST00000471951.2_Silent_p.P92P|ZMYND8_ENST00000468376.2_Intron|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000536340.1_Silent_p.P99P|ZMYND8_ENST00000262975.4_Silent_p.P72P|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000446994.2_Intron			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	72							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTGTGGTGAGTGGCTGCTTCA	0.453													5	43					0	0	0	0	C	45927650	T	C	45927650	2	2	339	1	0	0	0	0	0	0	0	1	17806	1683	59	5		5	ZMYND8	20	45927650	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	1408246	45927650	17097870	746	63754											
BCAS1	8537	broad.mit.edu	37	chr20	52611551	52611551	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacttccaactacctacCgtgtcttctgggtccttttt	7	15	5	14	1	2	0	0	0	2	0	4	0	4	0	4	1	3	0	4	1	3	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:52611551C>A	ENST00000395961.3	-	6	1093	c.927_splice	c.e6+1	p.T309_splice	BCAS1_ENST00000371435.2_Splice_Site_p.T309_splice|BCAS1_ENST00000371440.3_Splice_Site_p.T309_splice|BCAS1_ENST00000434986.2_Splice_Site_p.T22_splice	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	309						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AACTACCTACCGTGTCTTCTG	0.348													20	81					3.99206e-14	6.72695e-14	1	0	A	52611551	C	A	52611551	5	1	339	1	0	0	0	0	0	0	1	0	1354	666	23	3	855	3	BCAS1	20	52611551	Splice_Site	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	6683901	52611551	10413969	747	63755											
DOK5	55816	broad.mit.edu	37	chr20	53208300	53208300	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccgctaagcgccctgcgGcggtatggacgtgatactac	7	8	14	12	5	0	1	0	1	0	0	0	2	0	2	2	4	4	2	2	4	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:53208300G>T	ENST00000262593.5	+	5	905	c.555G>T	c.(553-555)cgG>cgT	p.R185R	DOK5_ENST00000395939.1_Silent_p.R77R	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	185	IRS-type PTB.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GCGCCCTGCGGCGGTATGGAC	0.453													6	51					0.00116845	0.00137597	1	0	T	53208300	G	T	53208300	2	4	339	1	0	0	0	0	0	0	0	1	4736	1190	42	4		4	DOK5	20	53208300	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	596749	53208300	9817220	748	63756											
CASS4	57091	broad.mit.edu	37	chr20	55012398	55012398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccgcctccaaatcctcaCggaggtcgctgcagacaggc	10	5	10	16	3	1	1	1	0	0	1	4	2	3	2	4	3	2	2	4	3	2	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:55012398C>A	ENST00000371336.3	+	2	416	c.215C>A	c.(214-216)aCg>aAg	p.T72K	CASS4_ENST00000434344.1_Missense_Mutation_p.T72K|CASS4_ENST00000360314.3_Missense_Mutation_p.T72K	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	72	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CAAATCCTCACGGAGGTCGCT	0.622													12	40					6.42651e-13	1.07895e-12	1	0	A	55012398	C	A	55012398	3	1	339	1	0	0	0	0	1	0	0	0	2708	536	19	3	221	3	CASS4	20	55012398	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1804098	55012398	8013122	749	63757											
CASS4	57091	broad.mit.edu	37	chr20	55012464	55012464	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaagctcctgccagctCagaggagacctatcaggtgc	11	6	13	11	0	2	3	2	0	0	3	3	5	3	4	3	3	4	2	3	3	3	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:55012464C>A	ENST00000371336.3	+	2	482	c.281C>A	c.(280-282)tCa>tAa	p.S94*	CASS4_ENST00000434344.1_Nonsense_Mutation_p.S94*|CASS4_ENST00000360314.3_Nonsense_Mutation_p.S94*	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	94					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCTGCCAGCTCAGAGGAGACC	0.662													5	55					0.000602214	0.000724082	1	0	A	55012464	C	A	55012464	4	1	339	1	0	0	0	0	0	1	0	0	2708	838	29	2	287	2	CASS4	20	55012464	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	66	55012464	8013056	750	63758											
ZNF512B	57473	broad.mit.edu	37	chr20	62598849	62598849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcctggccgggcactGtctgtccaccacggaccacc	6	5	14	16	2	1	0	0	0	1	0	2	2	2	1	6	5	0	1	6	5	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:62598849G>A	ENST00000450537.1	-	3	209	c.149C>T	c.(148-150)aCa>aTa	p.T50I	ZNF512B_ENST00000369888.1_Missense_Mutation_p.T50I|ZNF512B_ENST00000217130.3_Missense_Mutation_p.T50I			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCGGGCACTGTCTGTCCACC	0.637													15	64					0	0	0	0	A	62598849	G	A	62598849	3	1	339	1	0	0	0	0	1	0	0	0	18052	1377	48	4	2589	4	ZNF512B	20	62598849	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	7586385	62598849	426671	751	63759											
TPTE	7179	broad.mit.edu	37	chr21	10906930	10906930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatccagctacaacatcaCtggaagtcattttctcgcca	11	10	7	13	2	3	0	2	0	1	0	5	2	4	2	2	2	3	1	2	2	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:10906930C>A	ENST00000298232.7	-	23	1944	c.1577G>T	c.(1576-1578)aGt>aTt	p.S526I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S506I|TPTE_ENST00000361285.4_Missense_Mutation_p.S544I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	544	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACAACATCACTGGAAGTCAT	0.388													4	36					1	1	1	0	A	10906930	C	A	10906930	3	1	339	1	0	0	0	0	1	0	0	0	16525	565	20	4	28	4	TPTE	21	10906930	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08		10906930	37222965	752	63760											
NCAM2	4685	broad.mit.edu	37	chr21	22710816	22710816	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccagaaatcacttggaaaAgagctgtggatggcttcacg	12	10	11	8	1	2	2	2	0	0	2	3	4	3	4	1	3	1	2	1	3	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:22710816A>T	ENST00000400546.1	+	8	1255	c.1006A>T	c.(1006-1008)Aga>Tga	p.R336*	NCAM2_ENST00000535285.1_Nonsense_Mutation_p.R361*|NCAM2_ENST00000284894.7_Nonsense_Mutation_p.R194*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	336	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CACTTGGAAAAGAGCTGTGGA	0.388													7	19					0	0	0	0	T	22710816	A	T	22710816	4	4	339	1	0	0	0	0	0	1	0	0	10273	64	3	5	1036	5	NCAM2	21	22710816	Nonsense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	11803886	22710816	25419079	753	63761											
NCAM2	4685	broad.mit.edu	37	chr21	22841059	22841059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcatcaccaaacaggaCgatggaggggcccctatttt	11	8	10	12	1	2	0	2	0	0	0	2	3	2	2	3	4	2	1	3	4	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:22841059C>A	ENST00000400546.1	+	14	2100	c.1851C>A	c.(1849-1851)gaC>gaA	p.D617E	NCAM2_ENST00000284894.7_Missense_Mutation_p.D475E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	617	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCAAACAGGACGATGGAGGGG	0.378													4	25					0.00909568	0.00997907	1	0	A	22841059	C	A	22841059	3	1	339	1	0	0	0	0	1	0	0	0	10273	535	19	3	1905	3	NCAM2	21	22841059	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	130243	22841059	25288836	754	63762											
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744089	31744089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagccaagtaggttgggCggcagaatccagatccatag	13	7	13	8	1	0	3	0	0	0	3	2	3	2	3	3	3	1	3	3	3	6	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:31744089C>T	ENST00000399889.2	-	1	468	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	148						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GTAGGTTGGGCGGCAGAATCC	0.532													6	42					0	0	0	0	T	31744089	C	T	31744089	3	4	339	1	0	0	0	0	1	0	0	0	8575	768	27	1	88	1	KRTAP13-2	21	31744089	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	8903030	31744089	16385806	755	63763											
TMPRSS3	64699	broad.mit.edu	37	chr21	43816152	43816152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccctttcctggctcacacgGgcatgacctaattaagaacg	10	9	9	13	2	1	2	1	1	0	1	2	2	2	2	3	2	1	2	3	2	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:43816152G>T	ENST00000380399.1	-	1	803	c.100C>A	c.(100-102)Ccg>Acg	p.P34T	TMPRSS3_ENST00000398397.3_5'UTR|TMPRSS3_ENST00000433957.2_5'UTR|TMPRSS3_ENST00000291532.3_5'UTR			P57727	TMPS3_HUMAN	transmembrane protease, serine 3	0					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGCTCACACGGGCATGACCTA	0.537													3	17					0.115264	0.120258	1	0	T	43816152	G	T	43816152	3	4	339	1	0	0	0	0	1	0	0	0	16342	1247	43	4		4	TMPRSS3	21	43816152	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	12072063	43816152	4313743	756	63764											
NDUFV3	4731	broad.mit.edu	37	chr21	44323586	44323586	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gacgtcgccttcgtcttcatCctcttccagctcctctgatt	4	15	6	16	3	4	1	1	1	3	0	9	2	7	1	4	0	1	1	4	0	0	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:44323586C>G	ENST00000354250.2	+	3	533	c.464C>G	c.(463-465)tCc>tGc	p.S155C	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	TCGTCTTCATCCTCTTCCAGC	0.512													12	78					0	0	0	0	G	44323586	C	G	44323586	3	3	339	1	0	0	0	0	1	0	0	0	10371	855	30	2	474	2	NDUFV3	21	44323586	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	507434	44323586	3806309	757	63765											
DIP2A	23181	broad.mit.edu	37	chr21	47971582	47971582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caatgatcgtggggaacctgGttgctgggaagagaatcgct	10	9	15	7	2	0	2	0	1	0	1	2	5	0	4	1	4	2	3	1	4	4	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:47971582G>T	ENST00000318711.7	+	24	3061	c.2878G>T	c.(2878-2880)Gtt>Ttt	p.V960F	DIP2A_ENST00000427143.2_Missense_Mutation_p.V895F|DIP2A_ENST00000400274.1_Missense_Mutation_p.V955F|DIP2A_ENST00000417564.2_Missense_Mutation_p.V959F	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	959					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGGGAACCTGGTTGCTGGGAA	0.552													4	13					0.00024832	0.000309133	1	0	T	47971582	G	T	47971582	3	4	339	1	0	0	0	0	1	0	0	0	4564	1261	44	4	3051	4	DIP2A	21	47971582	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	3647996	47971582	158313	758	63766											
TBX1	6899	broad.mit.edu	37	chr22	19754184	19754184	+	Frame_Shift_Del	DEL	G	G	-																															ccgcctacgaccactatctcGgggccaagagccggccggcg																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:19754184delG	ENST00000332710.4	+	9	1411	c.1282delG	c.(1282-1284)ggfs	p.G428fs	TBX1_ENST00000329705.7_Intron|TBX1_ENST00000359500.3_Intron	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	56					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCACTATCTCGGGGCCAAGAG	0.736													2	4	---	---	---	---					-	19754184	G	-	19754184	7	5	339	1	0	1	0	1	0	0	0	0	15744	1116	39	0	1312	0	TBX1	22	19754184	Frame_Shift_Del	DEL	G	TCGA-CV-A45Z-01A-21D-A25D-08		19754184	31550382	759	63767											
RIMBP3	85376	broad.mit.edu	37	chr22	20460137	20460137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagggtataacagcggcGcgccagcacccacaacgcct	10	5	11	15	4	0	0	0	0	0	0	0	0	0	0	3	2	5	3	3	2	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:20460137G>T	ENST00000426804.1	-	1	1649	c.1165C>A	c.(1165-1167)Cgc>Agc	p.R389S		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TAACAGCGGCGCGCCAGCACC	0.652													3	21					0.115264	0.120258	1	0	T	20460137	G	T	20460137	3	4	339	1	0	0	0	0	1	0	0	0	13447	1087	38	3	3758	3	RIMBP3	22	20460137	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	705953	20460137	30844429	760	63768											
PI4KA	5297	broad.mit.edu	37	chr22	21156362	21156362	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgactcggaatgctcattGgtcacactgatttttatatc	9	16	8	8	1	2	2	2	2	0	0	4	3	2	3	0	2	1	2	0	2	3	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:21156362G>A	ENST00000255882.6	-	14	1709	c.1623C>T	c.(1621-1623)acC>acT	p.T541T	PI4KA_ENST00000572273.1_Silent_p.T483T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	483					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)			AATGCTCATTGGTCACACTGA	0.418													5	36					0	0	0	0	A	21156362	G	A	21156362	2	1	339	1	0	0	0	0	0	0	0	1	11945	1335	47	4		4	PI4KA	22	21156362	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	696225	21156362	30148204	761	63769											
SMARCB1	6598	broad.mit.edu	37	chr22	24145545	24145545	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccgaggtgctggtcccCatccggctggacatggagat	7	7	14	13	2	0	1	0	0	0	1	2	4	2	2	4	5	2	2	4	5	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:24145545C>T	ENST00000344921.6	+	5	798	c.591C>T	c.(589-591)ccC>ccT	p.P197P	SMARCB1_ENST00000407422.3_Silent_p.P179P|SMARCB1_ENST00000407082.3_Silent_p.P142P|SMARCB1_ENST00000263121.7_Silent_p.P188P			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	188	2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(6)|p.I189fs*25(1)|p.P188fs*24(1)|p.V185_M193del(1)|p.I189fs*24(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TGCTGGTCCCCATCCGGCTGG	0.587			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							6	73					0	0	0	0	T	24145545	C	T	24145545	2	4	339	1	0	0	0	0	0	0	0	1	14862	581	21	4		4	SMARCB1	22	24145545	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	2989183	24145545	27159021	762	63770											
MTMR3	8897	broad.mit.edu	37	chr22	30421781	30421781	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gataagcccattgctgccacTtccaactgaagctcagtgac	11	9	8	13	0	1	2	1	2	0	0	2	3	2	2	3	0	5	2	3	0	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:30421781T>A	ENST00000333027.3	+	20	3832	c.3504T>A	c.(3502-3504)acT>acA	p.T1168T	MTMR3_ENST00000323630.5_Silent_p.T1060T|MTMR3_ENST00000351488.3_Silent_p.T1159T|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.T1168T|MTMR3_ENST00000401950.2_Silent_p.T1196T	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1196					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TTGCTGCCACTTCCAACTGAA	0.552													4	47					0	0	0	0	A	30421781	T	A	30421781	2	1	339	1	0	0	0	0	0	0	0	1	10015	1596	56	5		5	MTMR3	22	30421781	Silent	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	6276236	30421781	20882785	763	63771											
SLC35E4	339665	broad.mit.edu	37	chr22	31032537	31032537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggctgggccccccgagtggCcccctggcagccctcaggcc	3	4	14	20	2	1	0	1	0	0	0	1	1	1	0	7	5	1	2	7	5	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:31032537C>T	ENST00000343605.4	+	1	899	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	SLC35E4_ENST00000300385.8_Missense_Mutation_p.P34S|SLC35E4_ENST00000406566.1_Missense_Mutation_p.P34S	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	34						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CCCCGAGTGGCCCCCTGGCAG	0.706													4	4					0	0	0	0	T	31032537	C	T	31032537	3	4	339	1	0	0	0	0	1	0	0	0	14675	739	26	4	102	4	SLC35E4	22	31032537	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	610756	31032537	20272029	764	63772											
GGA1	26088	broad.mit.edu	37	chr22	38019382	38019382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagggtgaatgccatcgagGaggtgaacaacaatgtgaaa	16	6	14	5	1	0	4	0	3	0	1	1	6	0	5	1	3	3	0	1	3	5	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:38019382G>A	ENST00000406772.1	+	9	1091	c.439G>A	c.(439-441)Gag>Aag	p.E147K	GGA1_ENST00000325180.8_Missense_Mutation_p.E220K|GGA1_ENST00000381756.5_Missense_Mutation_p.E237K|GGA1_ENST00000337437.4_Missense_Mutation_p.E187K|GGA1_ENST00000343632.4_Missense_Mutation_p.E220K	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	220	Interaction with ARF3.|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					TGCCATCGAGGAGGTGAACAA	0.592											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	116					0	0	0	0	A	38019382	G	A	38019382	3	1	339	1	0	0	0	0	1	0	0	0	6403	1175	41	2	754	2	GGA1	22	38019382	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	6986845	38019382	13285184	765	63773											
JOSD1	9929	broad.mit.edu	37	chr22	39085050	39085050	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctgccttttgaggggCagtttcagtggaccccagca	7	10	13	11	0	1	1	1	1	0	0	1	2	1	2	3	3	3	4	3	3	0	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:39085050C>T	ENST00000216039.5	-	3	1078	c.399G>A	c.(397-399)ctG>ctA	p.L133L		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	133	Josephin.						peptidase activity			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					TTTTGAGGGGCAGTTTCAGTG	0.557													8	60					0	0	0	0	T	39085050	C	T	39085050	2	4	339	1	0	0	0	0	0	0	0	1	8011	697	25	4		4	JOSD1	22	39085050	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1065668	39085050	12219516	766	63774											
APOBEC3D	140564	broad.mit.edu	37	chr22	39425401	39425401	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaatgtacccacacatattCtacttccactttaaaaacct	14	12	2	13	0	1	0	0	0	1	0	2	0	2	0	3	0	3	2	3	0	7	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:39425401C>G	ENST00000216099.7	+	5	1046	c.639C>G	c.(637-639)ttC>ttG	p.F213L	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.F213L	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	213					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CACACATATTCTACTTCCACT	0.502													11	45					0	0	0	0	G	39425401	C	G	39425401	3	3	339	1	0	0	0	0	1	0	0	0	794	912	32	2	657	2	APOBEC3D	22	39425401	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	340351	39425401	11879165	767	63775											
PHF21B	112885	broad.mit.edu	37	chr22	45312464	45312464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttgggtggccggtcccggCccggggcaacggggaggctg	3	5	21	12	4	0	0	0	0	0	0	1	1	1	1	3	9	1	3	3	9	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:45312464C>A	ENST00000313237.5	-	4	410	c.260G>T	c.(259-261)gGc>gTc	p.G87V	PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000447824.3_Missense_Mutation_p.G75V|PHF21B_ENST00000396103.3_Missense_Mutation_p.G87V|PHF21B_ENST00000404079.2_Missense_Mutation_p.G75V	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	87							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCGGTCCCGGCCCGGGGCAAC	0.632													11	40					3.86212e-05	5.08466e-05	1	0	A	45312464	C	A	45312464	3	1	339	1	0	0	0	0	1	0	0	0	11906	739	26	4	1375	4	PHF21B	22	45312464	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	5887063	45312464	5992102	768	63776											
PANX2	56666	broad.mit.edu	37	chr22	50615643	50615643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgacaactgttaccaccggGcggccgagggccgcgcgccc	6	4	14	17	7	0	0	0	0	0	0	1	2	0	0	5	3	2	1	5	3	2	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:50615643G>A	ENST00000395842.2	+	2	502	c.502G>A	c.(502-504)Gcg>Acg	p.A168T	PANX2_ENST00000159647.5_Missense_Mutation_p.A168T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	168					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TTACCACCGGGCGGCCGAGGG	0.657													4	12					0	0	0	0	A	50615643	G	A	50615643	3	1	339	1	0	0	0	0	1	0	0	0	11492	1203	42	4	508	4	PANX2	22	50615643	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	5303179	50615643	688923	769	63777											
IL3RA	3563	broad.mit.edu	37	chrX	1467386	1467386	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagtgaccaactacacCgtccgagtggccaacccacc	11	6	9	15	2	0	2	0	2	0	0	1	3	1	2	6	1	3	0	6	1	4	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:1467386C>A	ENST00000331035.4	+	4	595	c.246C>A	c.(244-246)acC>acA	p.T82T	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	82						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCAACTACACCGTCCGAGTGG	0.458													10	96					0.00621372	0.00701054	1	0	A	1467386	C	A	1467386	2	1	339	1	0	0	0	0	0	0	0	1	7748	639	23	3		3	IL3RA	23	1467386	Silent	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08		1467386	153803174	770	63778											
IL3RA	3563	broad.mit.edu	37	chrX	1484092	1484092	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtacacagtacaaataagagCccgggaaagagtgtatgaat	17	7	11	6	1	0	3	0	1	0	2	0	4	0	4	1	1	3	3	1	1	7	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:1484092C>G	ENST00000331035.4	+	9	1170	c.821C>G	c.(820-822)gCc>gGc	p.A274G	IL3RA_ENST00000381469.2_Missense_Mutation_p.A196G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	274						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAAATAAGAGCCCGGGAAAGA	0.562													4	30					0	0	0	0	G	1484092	C	G	1484092	3	3	339	1	0	0	0	0	1	0	0	0	7748	739	26	4	851	4	IL3RA	23	1484092	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	16706	1484092	153786468	771	63779											
NLGN4X	57502	broad.mit.edu	37	chrX	6069127	6069127	+	Frame_Shift_Del	DEL	C	C	-																															gtatccaaattggcggtaaaCcagatgggcagcatgtcatg																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:6069127delC	ENST00000381095.3	-	2	1008	c.381delG	c.(379-381)tgfs	p.W127fs	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Frame_Shift_Del_p.W127fs|NLGN4X_ENST00000538097.1_Frame_Shift_Del_p.W127fs|NLGN4X_ENST00000275857.6_Frame_Shift_Del_p.W127fs|NLGN4X_ENST00000381093.2_Frame_Shift_Del_p.W127fs	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	127					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGCGGTAAACCAGATGGGCA	0.483													12	50	---	---	---	---					-	6069127	C	-	6069127	7	5	339	1	0	1	0	1	0	0	0	0	10534	508	18	0	2089	0	NLGN4X	23	6069127	Frame_Shift_Del	DEL	C	TCGA-CV-A45Z-01A-21D-A25D-08	4585035	6069127	149201433	772	63780											
VCX2	51480	broad.mit.edu	37	chrX	8138182	8138182	+	Frame_Shift_Del	DEL	A	A	-																															ccacctcgctctcctgactcAgggggtcgtgctgggtcccc																								rs41305169		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:8138182delA	ENST00000317103.4	-	3	617	c.311delT	c.(310-312)cgfs	p.L104fs		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	104	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.		L -> P (in dbSNP:rs41305169).							endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CTCCTGACTCAGGGGGTCGTG	0.667													2	4	---	---	---	---					-	8138182	A	-	8138182	7	5	339	1	0	1	0	1	0	0	0	0	17239	188	7	0	112	0	VCX2	23	8138182	Frame_Shift_Del	DEL	A	TCGA-CV-A45Z-01A-21D-A25D-08	2069055	8138182	147132378	773	63781											
OFD1	8481	broad.mit.edu	37	chrX	13757119	13757119	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaatattttcttttaacAggtttcaggatctgataaag	13	16	8	4	0	3	2	1	2	2	0	3	3	3	3	0	2	1	1	0	2	5	7			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:13757119A>T	ENST00000380567.1	+	5	708		c.e5-1		OFD1_ENST00000340096.6_Splice_Site|OFD1_ENST00000398395.3_Splice_Site|OFD1_ENST00000490265.1_Splice_Site|OFD1_ENST00000380550.3_Splice_Site			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1						cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TTCTTTTAACAGGTTTCAGGA	0.313													7	17					0	0	0	0	T	13757119	A	T	13757119	5	4	339	1	0	0	0	0	0	0	1	0	10909	202	7	5	398	5	OFD1	23	13757119	Splice_Site	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	5618937	13757119	141513441	774	63782											
CNKSR2	22866	broad.mit.edu	37	chrX	21627270	21627270	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtctcagtcttctcatGaggagtttcgccaggaagta	9	12	10	10	1	4	1	3	1	3	0	7	3	4	3	1	2	0	2	1	2	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:21627270G>T	ENST00000425654.2	+	19	2617	c.2137G>T	c.(2137-2139)Gag>Tag	p.E713*	CNKSR2_ENST00000379510.3_Nonsense_Mutation_p.E743*|CNKSR2_ENST00000543067.1_Nonsense_Mutation_p.E694*|CNKSR2_ENST00000279451.4_Nonsense_Mutation_p.E743*	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	743					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTCTTCTCATGAGGAGTTTCG	0.532													7	45					8.12818e-05	0.000103873	1	0	T	21627270	G	T	21627270	4	4	339	1	0	0	0	0	0	1	0	0	3637	1291	45	2	2305	2	CNKSR2	23	21627270	Nonsense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	7870151	21627270	133643290	775	63783											
CXorf21	80231	broad.mit.edu	37	chrX	30577868	30577868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattagaaataggattcTgcatttgcaagctgcttttc	10	15	8	8	0	1	1	0	0	1	1	2	2	1	2	0	1	5	5	0	1	4	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:30577868T>C	ENST00000378962.3	-	3	927	c.605A>G	c.(604-606)cAg>cGg	p.Q202R		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	202										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AATAGGATTCTGCATTTGCAA	0.408													17	37					0	0	0	0	C	30577868	T	C	30577868	3	2	339	1	0	0	0	0	1	0	0	0	4133	1580	55	5	304	5	CXorf21	23	30577868	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	8950598	30577868	124692692	776	63784											
FAM47C	442444	broad.mit.edu	37	chrX	37026587	37026587	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttcgcgaagcgcaagcAcaggcgcctgaggttcccgc	8	6	13	14	5	0	1	0	1	0	0	2	2	1	1	2	2	3	4	2	2	3	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:37026587A>C	ENST00000358047.3	+	1	156	c.104A>C	c.(103-105)cAc>cCc	p.H35P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	35										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AAGCGCAAGCACAGGCGCCTG	0.627													4	13					0	0	0	0	C	37026587	A	C	37026587	3	2	339	1	0	0	0	0	1	0	0	0	5618	159	6	5	106	5	FAM47C	23	37026587	Missense_Mutation	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	6448719	37026587	118243973	777	63785											
HDAC6	10013	broad.mit.edu	37	chrX	48674002	48674002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggcttcagtttcctGtgctctggaagcccttgagc	5	12	11	13	0	2	1	1	1	1	0	3	2	3	2	3	2	4	3	3	2	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:48674002G>T	ENST00000334136.5	+	16	1455	c.1277G>T	c.(1276-1278)tGt>tTt	p.C426F	HDAC6_ENST00000376619.2_Missense_Mutation_p.C426F|HDAC6_ENST00000444343.2_Missense_Mutation_p.C440F			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	426					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TCAGTTTCCTGTGCTCTGGAA	0.612													5	20					0.184627	0.188964	1	0	T	48674002	G	T	48674002	3	4	339	1	0	0	0	0	1	0	0	0	7061	1377	48	4	1335	4	HDAC6	23	48674002	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	11647415	48674002	106596558	778	63786											
DGKK	139189	broad.mit.edu	37	chrX	50213565	50213565	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggagccggcggcggaGccggtggtggtggcggcggc	2	3	25	11	8	0	0	0	0	0	0	0	2	0	2	2	11	2	0	2	11	0	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:50213565G>A	ENST00000376025.2	-	0	172							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					cggcggcggagccggtggtgg	0.721													7	12					0	0	0	0	A	50213565	G	A	50213565	1	1	339	0	1	0	0	0	0	0	0	0	4509	971	34	4		4	DGKK	23	50213565	RNA	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	1539563	50213565	105056995	779	63787											
FAAH2	158584	broad.mit.edu	37	chrX	57358175	57358175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtatgtggtatgaatccaGtaacaagatctatggccgat	12	12	11	6	1	1	2	0	1	1	1	2	3	2	2	2	2	1	3	2	2	6	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:57358175G>A	ENST00000374900.4	+	4	677	c.557G>A	c.(556-558)aGt>aAt	p.S186N		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	186						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TATGAATCCAGTAACAAGATC	0.433										HNSCC(52;0.14)			8	33					0	0	0	0	A	57358175	G	A	57358175	3	1	339	1	0	0	0	0	1	0	0	0	5395	1029	36	4	571	4	FAAH2	23	57358175	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	7144610	57358175	97912385	780	63788											
OTUD6A	139562	broad.mit.edu	37	chrX	69282814	69282814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggagatgaaagcgatccCggccgacggccactgcatgt	9	7	13	12	4	1	2	0	1	1	1	2	5	2	2	3	3	2	1	3	3	1	0			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:69282814C>T	ENST00000338352.2	+	1	474	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	147	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AAAGCGATCCCGGCCGACGGC	0.642													5	7					0	0	0	0	T	69282814	C	T	69282814	3	4	339	1	0	0	0	0	1	0	0	0	11387	652	23	1	442	1	OTUD6A	23	69282814	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	11924639	69282814	85987746	781	63789											
SLC7A3	84889	broad.mit.edu	37	chrX	70148007	70148007	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgttaccagtggtagcaaTacagtcgaaaccaacaaatg	15	9	9	8	1	0	0	0	0	0	0	1	1	0	0	2	1	5	3	2	1	7	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:70148007T>C	ENST00000374299.3	-	5	952	c.808A>G	c.(808-810)Att>Gtt	p.I270V	SLC7A3_ENST00000298085.4_Missense_Mutation_p.I270V			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	270					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGGTAGCAATACAGTCGAAA	0.542													5	8					0	0	0	0	C	70148007	T	C	70148007	3	2	339	1	0	0	0	0	1	0	0	0	14786	1406	49	5	1083	5	SLC7A3	23	70148007	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	865193	70148007	85122553	782	63790											
ACRC	93953	broad.mit.edu	37	chrX	70823983	70823983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatgattcggaagcttccGacgacagcagtgatgattcg	10	10	13	8	4	0	4	0	4	0	0	3	7	1	5	1	1	2	2	1	1	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:70823983G>A	ENST00000373695.1	+	7	1393	c.856G>A	c.(856-858)Gac>Aac	p.D286N	ACRC_ENST00000373696.3_Missense_Mutation_p.D286N			Q96QF7	ACRC_HUMAN	acidic repeat containing	286	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTTCCGACGACAGCAG	0.547													32	71					0	0	0	0	A	70823983	G	A	70823983	3	1	339	1	0	0	0	0	1	0	0	0	171	1058	37	1	882	1	ACRC	23	70823983	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	675976	70823983	84446577	783	63791											
CDX4	1046	broad.mit.edu	37	chrX	72667520	72667520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgacggacgcaggcgccgCcaaggccagttcccccagca	8	2	12	19	5	0	0	0	0	0	0	1	2	1	1	6	3	1	3	6	3	1	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:72667520C>T	ENST00000373514.2	+	1	431	c.431C>T	c.(430-432)gCc>gTc	p.A144V		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	144						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCAGGCGCCGCCAAGGCCAGT	0.652													4	12					0	0	0	0	T	72667520	C	T	72667520	3	4	339	1	0	0	0	0	1	0	0	0	3213	739	26	4	433	4	CDX4	23	72667520	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1843537	72667520	82603040	784	63792											
PABPC5	140886	broad.mit.edu	37	chrX	90691045	90691045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcactttgacagcctggccGctgccaatagagccatctgg	8	10	10	13	1	2	2	1	1	1	1	2	2	2	2	4	2	3	1	4	2	2	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:90691045G>T	ENST00000312600.3	+	2	683	c.469G>T	c.(469-471)Gct>Tct	p.A157S	PABPC5_ENST00000373105.1_5'UTR	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	157	RRM 2.					cytoplasm	nucleotide binding|RNA binding	p.A157T(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CAGCCTGGCCGCTGCCAATAG	0.502													4	25					0.00024832	0.000309133	1	0	T	90691045	G	T	90691045	3	4	339	1	0	0	0	0	1	0	0	0	11438	1087	38	3	471	3	PABPC5	23	90691045	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	18023525	90691045	64579515	785	63793											
PCDH11X	27328	broad.mit.edu	37	chrX	91090551	91090551	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgcggtcctgctagcatgCgtggtgttccactctggcgc	3	12	13	13	4	1	0	0	0	1	0	4	0	3	0	2	3	3	3	2	3	1	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:91090551C>A	ENST00000373094.1	+	1	893	c.48C>A	c.(46-48)tgC>tgA	p.C16*	PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000504220.1_Nonsense_Mutation_p.C16*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	16					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.C16C(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCTAGCATGCGTGGTGTTCC	0.478													9	39					0.000274275	0.000339596	1	0	A	91090551	C	A	91090551	4	1	339	1	0	0	0	0	0	1	0	0	11579	776	27	3	50	3	PCDH11X	23	91090551	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	399506	91090551	64180009	786	63794											
TEX13A	56157	broad.mit.edu	37	chrX	104464339	104464339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcagcagccaccgccGcctcttcttcctcctcagct	6	8	6	21	2	3	0	1	0	2	0	5	0	5	0	7	0	4	3	7	0	0	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:104464339G>C	ENST00000372578.3	-	3	650	c.539C>G	c.(538-540)gCg>gGg	p.A180G	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.A180G|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.A180G	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	180						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AGCCACCGCCGCCTCTTCTTC	0.652													6	13					0	0	0	0	C	104464339	G	C	104464339	3	2	339	1	0	0	0	0	1	0	0	0	15870	1087	38	3	696	3	TEX13A	23	104464339	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	13373788	104464339	50806221	787	63795											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104984617	104984617	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgtggaagctgacctggcGaattatacctgccatgttga	9	12	12	8	1	0	2	0	2	0	0	0	4	0	3	3	2	3	3	3	2	4	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:104984617G>A	ENST00000372582.1	+	8	1737	c.981G>A	c.(979-981)gcG>gcA	p.A327A	IL1RAPL2_ENST00000344799.4_Silent_p.A327A	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	327	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGACCTGGCGAATTATACCT	0.388													9	24					0	0	0	0	A	104984617	G	A	104984617	2	1	339	1	0	0	0	0	0	0	0	1	7715	1045	37	1		1	IL1RAPL2	23	104984617	Silent	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	520278	104984617	50285943	788	63796											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011206	105011206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccctgatcaagtggaaggGatccaaaagcagcaaattaa	16	7	10	8	0	1	1	1	1	0	0	3	3	3	3	2	2	2	2	2	2	6	1			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:105011206G>T	ENST00000372582.1	+	11	2369	c.1613G>T	c.(1612-1614)gGa>gTa	p.G538V	IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.G143V|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G538V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	538	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGTGGAAGGGATCCAAAAGC	0.388													14	53					9.31168e-06	1.29486e-05	1	0	T	105011206	G	T	105011206	3	4	339	1	0	0	0	0	1	0	0	0	7715	1174	41	2	1651	2	IL1RAPL2	23	105011206	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	26589	105011206	50259354	789	63797											
CXorf57	55086	broad.mit.edu	37	chrX	105905477	105905477	+	Frame_Shift_Del	DEL	A	A	-																															ccaccagaaggaaggcccccAaaacttgatgattttaagag																										TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:105905477delA	ENST00000372548.4	+	12	2320	c.2211delA	c.(2209-2211)ccfs	p.P737fs	CXorf57_ENST00000497124.1_3'UTR|CXorf57_ENST00000372544.2_Frame_Shift_Del_p.P640fs	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	737										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GAAGGCCCCCAAAACTTGATG	0.368													10	28	---	---	---	---					-	105905477	A	-	105905477	7	5	339	1	0	1	0	1	0	0	0	0	4145	117	5	0	2257	0	CXorf57	23	105905477	Frame_Shift_Del	DEL	A	TCGA-CV-A45Z-01A-21D-A25D-08	894271	105905477	49365083	790	63798											
HTR2C	3358	broad.mit.edu	37	chrX	113965752	113965752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgtgatatttctgtgagcCcagtagcagctatagtaact	12	13	9	7	0	1	2	0	2	1	0	1	2	1	2	1	0	4	4	1	0	6	6			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:113965752C>A	ENST00000276198.1	+	4	813	c.85C>A	c.(85-87)Cca>Aca	p.P29T	HTR2C_ENST00000371950.3_Missense_Mutation_p.P29T|HTR2C_ENST00000371951.1_Missense_Mutation_p.P29T	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	29					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTCTGTGAGCCCAGTAGCAGC	0.383													11	45					9.70103e-10	1.57944e-09	1	0	A	113965752	C	A	113965752	3	1	339	1	0	0	0	0	1	0	0	0	7496	623	22	4	91	4	HTR2C	23	113965752	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	8060275	113965752	41304808	791	63799											
PLS3	5358	broad.mit.edu	37	chrX	114877687	114877687	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagataaattaggttgcagAcagtttgttacccctgctga	11	12	10	8	0	0	3	0	1	0	2	0	3	0	3	2	1	3	6	2	1	4	5	rs113204501	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:114877687A>G	ENST00000420625.2	+	10	1184	c.1050A>G	c.(1048-1050)agA>agG	p.R350R	PLS3_ENST00000289290.3_Silent_p.R314R|PLS3_ENST00000543070.1_Intron|PLS3_ENST00000537301.1_Silent_p.R337R|PLS3_ENST00000355899.3_Silent_p.R350R|PLS3_ENST00000539310.1_Silent_p.R305R	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	350	Actin-binding 1.|CH 2.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TAGGTTGCAGACAGTTTGTTA	0.418													4	24					0	0	0	0	G	114877687	A	G	114877687	2	3	339	1	0	0	0	0	0	0	0	1	12180	272	10	5		5	PLS3	23	114877687	Silent	SNP	A	TCGA-CV-A45Z-01A-21D-A25D-08	911935	114877687	40392873	792	63800											
GRIA3	2892	broad.mit.edu	37	chrX	122387312	122387312	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtttgtcatccagatgcgcCcagccttgaagggcgctatt	8	11	11	11	2	1	2	1	1	0	1	2	2	2	2	3	1	2	2	3	1	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:122387312C>A	ENST00000264357.5	+	3	719	c.427C>A	c.(427-429)Cca>Aca	p.P143T	GRIA3_ENST00000371251.1_Missense_Mutation_p.P143T|GRIA3_ENST00000542149.1_Missense_Mutation_p.P143T|GRIA3_ENST00000371256.5_Missense_Mutation_p.P143T|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000541091.1_Missense_Mutation_p.P127T	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	143					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CCAGATGCGCCCAGCCTTGAA	0.522													10	33					4.68919e-08	7.32186e-08	1	0	A	122387312	C	A	122387312	3	1	339	1	0	0	0	0	1	0	0	0	6819	623	22	4	437	4	GRIA3	23	122387312	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	7509625	122387312	32883248	793	63801											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299102	125299102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggttcttgccgctgaagGccagggcccgtaccttgcgg	4	9	14	14	3	1	1	0	1	1	0	1	1	1	1	5	4	3	3	5	4	2	4			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:125299102G>T	ENST00000538699.1	-	2	886	c.806C>A	c.(805-807)gCc>gAc	p.A269D	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A269D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	269										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCGCTGAAGGCCAGGGCCCG	0.637													4	27					0.00909568	0.00997907	1	0	T	125299102	G	T	125299102	3	4	339	1	0	0	0	0	1	0	0	0	4298	1203	42	4	589	4	DCAF12L2	23	125299102	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	2911790	125299102	29971458	794	63802											
ZIC3	7547	broad.mit.edu	37	chrX	136649480	136649480	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccgcgcacggacccctaCgcggccggcgctcagtttcc	5	5	12	19	7	1	0	1	0	0	0	2	1	2	1	5	3	2	3	5	3	1	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:136649480C>G	ENST00000287538.5	+	1	1180	c.630C>G	c.(628-630)taC>taG	p.Y210*	ZIC3_ENST00000370606.3_Nonsense_Mutation_p.Y210*	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	210					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGGACCCCTACGCGGCCGGCG	0.662													4	20					0	0	0	0	G	136649480	C	G	136649480	4	3	339	1	0	0	0	0	0	1	0	0	17775	547	19	3	632	3	ZIC3	23	136649480	Nonsense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	11350378	136649480	18621080	795	63803											
MCF2	4168	broad.mit.edu	37	chrX	138667263	138667263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttcattttcatcataagTagggtagaaatagttgcttg	11	17	8	5	0	4	1	3	0	1	1	4	1	4	1	0	1	1	4	0	1	5	10			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:138667263T>C	ENST00000520602.1	-	27	3172	c.2887A>G	c.(2887-2889)Act>Gct	p.T963A	MCF2_ENST00000370576.4_Missense_Mutation_p.T903A|MCF2_ENST00000338585.6_Missense_Mutation_p.T919A|MCF2_ENST00000414978.1_Missense_Mutation_p.T963A|MCF2_ENST00000519895.1_Missense_Mutation_p.T979A|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000370573.4_Intron|MCF2_ENST00000370578.4_Missense_Mutation_p.T1048A			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	903					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCATCATAAGTAGGGTAGAAA	0.358													12	51					0	0	0	0	C	138667263	T	C	138667263	3	2	339	1	0	0	0	0	1	0	0	0	9447	1638	57	5	106	5	MCF2	23	138667263	Missense_Mutation	SNP	T	TCGA-CV-A45Z-01A-21D-A25D-08	2017783	138667263	16603297	796	63804											
CDR1	1038	broad.mit.edu	37	chrX	139865977	139865977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccagaaaatccatgtcttCcagaaaatccatgtcttcca	13	12	4	12	0	2	2	0	0	2	2	7	2	7	2	5	0	0	0	5	0	4	3			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:139865977C>A	ENST00000370532.2	-	1	746	c.555G>T	c.(553-555)tgG>tgT	p.W185C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	185	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCATGTCTTCCAGAAAATCC	0.443													27	95					7.92952e-12	1.32159e-11	1	0	A	139865977	C	A	139865977	3	1	339	1	0	0	0	0	1	0	0	0	3200	856	30	2	237	2	CDR1	23	139865977	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	1198714	139865977	15404583	797	63805											
SLITRK2	84631	broad.mit.edu	37	chrX	144906317	144906317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcctatgaatctcgaCgccaaaaccaagacagaatc	14	7	5	15	2	1	3	0	1	1	2	4	4	2	3	5	0	1	0	5	0	6	2	rs148553713		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:144906317C>A	ENST00000370490.1	+	1	6629	c.2374C>A	c.(2374-2376)Cgc>Agc	p.R792S	SLITRK2_ENST00000447897.2_Missense_Mutation_p.R792S|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R792S|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R792S|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R792S			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	792						integral to membrane		p.R792G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGAATCTCGACGCCAAAACCA	0.453													14	50					4.36969e-10	7.19113e-10	1	0	A	144906317	C	A	144906317	3	1	339	1	0	0	0	0	1	0	0	0	14831	536	19	3	2376	3	SLITRK2	23	144906317	Missense_Mutation	SNP	C	TCGA-CV-A45Z-01A-21D-A25D-08	5040340	144906317	10364243	798	63806											
PRRG3	79057	broad.mit.edu	37	chrX	150869492	150869492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatagtggccgccaaccctgGcgctgacaagtagtgggacg	9	6	15	11	3	0	1	0	1	0	0	0	3	0	2	3	3	1	2	3	3	4	2			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:150869492G>T	ENST00000370353.3	+	4	1073	c.683G>T	c.(682-684)gGc>gTc	p.G228V	PRRG3_ENST00000538575.1_Missense_Mutation_p.G228V			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	228						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAACCCTGGCGCTGACAAG	0.547													3	18					2.56e-06	3.67147e-06	1	0	T	150869492	G	T	150869492	3	4	339	1	0	0	0	0	1	0	0	0	12686	1203	42	4	693	4	PRRG3	23	150869492	Missense_Mutation	SNP	G	TCGA-CV-A45Z-01A-21D-A25D-08	5963175	150869492	4401068	799	63807											
TMEM69	51249	broad.mit.edu	37	chr1	46158947	46158947	+	Frame_Shift_Del	DEL	C	C	-																															ctttctctcaagatgtctctCcagcaaaacttttccccatg																										TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:46158947delC	ENST00000372025.4	+	3	1271	c.114delC	c.(112-114)ctfs	p.L38fs	TMEM69_ENST00000496366.1_3'UTR	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	38						integral to membrane				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					AGATGTCTCTCCAGCAAAACT	0.423													7	330	---	---	---	---					-	46158947	C	-	46158947	7	5	340	1	0	1	0	1	0	0	0	0	16292	842	30	0	120	0	TMEM69	1	46158947	Frame_Shift_Del	DEL	C	TCGA-CV-A460-01A-21D-A25D-08		46158947	203091674	1	63808											
MRPL37	51253	broad.mit.edu	37	chr1	54665941	54665950	+	Frame_Shift_Del	DEL	AGGCGGGCGC	AGGCGGGCGC	-																															cattggcgtccgggcccgcaAggcgggcgctagctggctcc																										TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:54665941_54665950delAGGCGGGCGC	ENST00000605337.1	+	1	73_82	c.25_34delAGGCGGGCGC	c.(25-36)tafs	p.RRAL9fs	MRPL37_ENST00000336230.6_5'UTR|MRPL37_ENST00000360840.5_Frame_Shift_Del_p.RRAL9fs|MRPL37_ENST00000487096.1_Intron			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	9					translation	mitochondrial ribosome	structural constituent of ribosome	p.L12I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CGGGCCCGCAAGGCGGGCGCTAGCTGGCTC	0.705													18	106	---	---	---	---					-	54665950	AGGCGGGCGC	-	54665941	7	5	340	1	0	1	0	1	0	0	0	0	9870	63	3	0	27	0	MRPL37	1	54665941	Frame_Shift_Del	DEL	AGGCGGGCGC	TCGA-CV-A460-01A-21D-A25D-08	8506994	54665941	194584680	2	63809											
DBT	1629	broad.mit.edu	37	chr1	100684182	100684182	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatattaagagaacttacAttgttttccattgccagacg	14	14	6	7	1	0	2	0	0	0	2	1	3	1	2	2	0	3	1	2	0	6	8			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:100684182A>G	ENST00000370132.3	-	5	568	c.555_splice	c.e5+1	p.N185_splice	DBT_ENST00000370131.3_Splice_Site_p.N185_splice	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	185					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GAGAACTTACATTGTTTTCCA	0.388													21	98					0	0	0	0	G	100684182	A	G	100684182	5	3	340	1	0	0	0	0	0	0	1	0	4291	231	8	5	921	5	DBT	1	100684182	Splice_Site	SNP	A	TCGA-CV-A460-01A-21D-A25D-08	46018241	100684182	148566439	3	63810											
VCAM1	7412	broad.mit.edu	37	chr1	101190244	101190244	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcaagaaggtggctctgtGaccatgacctgttccagcga	9	9	12	11	1	1	3	0	2	1	1	2	4	2	3	3	2	2	3	3	2	2	1			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:101190244G>A	ENST00000294728.2	+	4	827	c.726G>A	c.(724-726)gtG>gtA	p.V242V	VCAM1_ENST00000370115.1_Silent_p.V242V|VCAM1_ENST00000347652.2_Silent_p.V242V|VCAM1_ENST00000370119.4_Silent_p.V180V	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	242	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTGGCTCTGTGACCATGACCT	0.418													19	49					0	0	0	0	A	101190244	G	A	101190244	2	1	340	1	0	0	0	0	0	0	0	1	17233	1277	45	2		2	VCAM1	1	101190244	Silent	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	506062	101190244	148060377	4	63811											
CHML	1122	broad.mit.edu	37	chr1	241797567	241797567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagataggtgtccttcatgCatgtcatggttgaagaacat	11	12	10	8	0	2	3	2	1	0	2	3	3	3	3	2	2	2	2	2	2	3	3			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:241797567C>T	ENST00000366553.1	-	1	1665	c.1502G>A	c.(1501-1503)tGc>tAc	p.C501Y	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	501					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTCCTTCATGCATGTCATGGT	0.413													17	70					0	0	0	0	T	241797567	C	T	241797567	3	4	340	1	0	0	0	0	1	0	0	0	3380	710	25	4	472	4	CHML	1	241797567	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	140607323	241797567	7453054	5	63812											
UPP2	151531	broad.mit.edu	37	chr2	158962650	158962650	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaatccttacttggatttGatggatgaagacattctcta	14	14	7	6	0	1	3	0	2	1	1	3	5	2	5	1	2	1	0	1	2	5	5			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr2:158962650G>A	ENST00000605860.1	+	5	319	c.273G>A	c.(271-273)ttG>ttA	p.L91L	UPP2_ENST00000005756.4_Silent_p.L34L|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Silent_p.L91L			O95045	UPP2_HUMAN	uridine phosphorylase 2	34					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						ACTTGGATTTGATGGATGAAG	0.308													6	19					0	0	0	0	A	158962650	G	A	158962650	2	1	340	1	0	0	0	0	0	0	0	1	17109	1281	45	2		2	UPP2	2	158962650	Silent	SNP	G	TCGA-CV-A460-01A-21D-A25D-08		158962650	84236723	6	63813											
PTH2R	5746	broad.mit.edu	37	chr2	209293016	209293016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactcaacatcacagctcaaCtccaggagggaggtaaagat	16	6	9	10	0	3	1	3	0	0	1	4	3	4	3	1	3	4	2	1	3	5	1			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr2:209293016C>A	ENST00000272847.2	+	2	379	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	56						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CACAGCTCAACTCCAGGAGGG	0.438													7	16					2.0095e-06	2.20608e-06	1	0	A	209293016	C	A	209293016	3	1	340	1	0	0	0	0	1	0	0	0	12840	565	20	4	172	4	PTH2R	2	209293016	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	50330366	209293016	33906357	7	63814											
FN1	2335	broad.mit.edu	37	chr2	216248067	216248067	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacctggacctgcagttttAgtttttgttggtcctggtcc	4	18	10	9	0	0	0	0	0	0	0	2	1	2	1	4	3	2	4	4	3	2	6			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr2:216248067A>C	ENST00000354785.4	-	31	5403	c.5034T>G	c.(5032-5034)acT>acG	p.T1678T	FN1_ENST00000323926.6_Silent_p.T1678T|FN1_ENST00000446046.1_Silent_p.T1587T|FN1_ENST00000443816.1_Silent_p.T1587T|FN1_ENST00000336916.4_Silent_p.T1587T|FN1_ENST00000432072.2_Silent_p.T1678T|FN1_ENST00000421182.1_Silent_p.T1587T|FN1_ENST00000359671.1_Silent_p.T1587T|FN1_ENST00000357867.4_Silent_p.T1587T|FN1_ENST00000357009.2_Silent_p.T1587T|FN1_ENST00000356005.4_Silent_p.T1587T|FN1_ENST00000346544.3_Silent_p.T1587T|FN1_ENST00000345488.5_Silent_p.T1587T|FN1_ENST00000490833.1_5'UTR			P02751	FINC_HUMAN	fibronectin 1	1678	Fibronectin type-III 12; extra domain.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCAGTTTTAGTTTTTGTTG	0.502													28	96					0	0	0	0	C	216248067	A	C	216248067	2	2	340	1	0	0	0	0	0	0	0	1	6007	407	15	5		5	FN1	2	216248067	Silent	SNP	A	TCGA-CV-A460-01A-21D-A25D-08	6955051	216248067	26951306	8	63815											
GIGYF2	26058	broad.mit.edu	37	chr2	233651883	233651883	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaattttgaggaaggtGgaccaacatcagtagggaga	15	7	13	6	0	1	2	1	1	0	1	1	6	1	4	2	4	1	1	2	4	4	3			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr2:233651883G>T	ENST00000373566.3	+	10	819	c.622G>T	c.(622-624)Gga>Tga	p.G208*	GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.G208*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.G186*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.G208*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.G186*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.G186*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.G17*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	186	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGAGGAAGGTGGACCAACATC	0.388													11	47					2.27111e-07	2.60662e-07	1	0	T	233651883	G	T	233651883	4	4	340	1	0	0	0	0	0	1	0	0	6429	1349	47	4	652	4	GIGYF2	2	233651883	Nonsense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	17403816	233651883	9547490	9	63816											
C3orf20	84077	broad.mit.edu	37	chr3	14798938	14798938	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttgccctcagactgcccGctggtgctgcggaagctcat	5	9	12	15	2	2	1	2	0	0	1	2	2	2	2	3	2	5	3	3	2	1	1			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr3:14798938G>A	ENST00000253697.3	+	13	2453	c.2001G>A	c.(1999-2001)ccG>ccA	p.P667P	C3orf20_ENST00000435614.1_Silent_p.P545P|C3orf20_ENST00000412910.1_Silent_p.P545P	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	667						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGACTGCCCGCTGGTGCTGC	0.672													10	26					0	0	0	0	A	14798938	G	A	14798938	2	1	340	1	0	0	0	0	0	0	0	1	2233	1074	38	1		1	C3orf20	3	14798938	Silent	SNP	G	TCGA-CV-A460-01A-21D-A25D-08		14798938	183223492	10	63817											
STAC	6769	broad.mit.edu	37	chr3	36524575	36524575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaccccagcggtgcatGggcaagctggtaagggcttg	7	7	16	11	1	0	0	0	0	0	0	0	0	0	0	2	5	3	6	2	5	2	2			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr3:36524575G>A	ENST00000273183.3	+	3	780	c.480G>A	c.(478-480)atG>atA	p.M160I	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Intron	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	160					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AGCGGTGCATGGGCAAGCTGG	0.577													9	30					0	0	0	0	A	36524575	G	A	36524575	3	1	340	1	0	0	0	0	1	0	0	0	15329	1348	47	4	490	4	STAC	3	36524575	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	21725637	36524575	161497855	11	63818											
PIK3CA	5290	broad.mit.edu	37	chr3	178952065	178952065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggctttggagtatttcatGaaacaaatgaatgatgcaca	15	11	10	5	0	1	3	1	3	0	0	1	5	1	4	0	2	2	3	0	2	4	3			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr3:178952065G>A	ENST00000263967.3	+	21	3277	c.3120G>A	c.(3118-3120)atG>atA	p.M1040I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1040	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1040I(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGTATTTCATGAAACAAATGA	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			23	72					0	0	0	0	A	178952065	G	A	178952065	3	1	340	1	0	0	0	0	1	0	0	0	11985	1290	45	2	3198	2	PIK3CA	3	178952065	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	142427490	178952065	19070365	12	63819											
RTP2	344892	broad.mit.edu	37	chr3	187416485	187416485	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccagtgaacgatgcccTcctggcaggcctcacagaac	9	7	10	15	1	1	2	1	1	0	1	3	3	3	2	4	2	3	2	4	2	2	1			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr3:187416485T>C	ENST00000358241.1	-	2	907	c.479A>G	c.(478-480)gAg>gGg	p.E160G		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	160					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		AACGATGCCCTCCTGGCAGGC	0.667													17	26					0	0	0	0	C	187416485	T	C	187416485	3	2	340	1	0	0	0	0	1	0	0	0	13819	1551	54	5	202	5	RTP2	3	187416485	Missense_Mutation	SNP	T	TCGA-CV-A460-01A-21D-A25D-08	8464420	187416485	10605945	13	63820											
LMLN	89782	broad.mit.edu	37	chr3	197687111	197687111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatggtaacgacgctcggcCcgaagatggcggccgaatgg	9	5	15	12	6	0	1	0	0	0	1	1	4	0	1	3	5	1	2	3	5	3	1			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr3:197687111C>T	ENST00000330198.4	+	1	41	c.19C>T	c.(19-21)Ccg>Tcg	p.P7S	LMLN_ENST00000420910.2_Missense_Mutation_p.P7S|LMLN_ENST00000482695.1_5'UTR	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	7					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GACGCTCGGCCCGAAGATGGC	0.746													13	32					0	0	0	0	T	197687111	C	T	197687111	3	4	340	1	0	0	0	0	1	0	0	0	8902	623	22	4	21	4	LMLN	3	197687111	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	10270626	197687111	335319	14	63821											
LRRC66	339977	broad.mit.edu	37	chr4	52860601	52860601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccttatcaggatctgaggGaacttcagcagaacatggtg	12	9	12	8	0	3	2	2	1	1	1	3	4	3	4	1	3	4	1	1	3	3	2			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr4:52860601G>T	ENST00000343457.3	-	4	2593	c.2587C>A	c.(2587-2589)Ccc>Acc	p.P863T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	863						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGATCTGAGGGAACTTCAGCA	0.378													19	61					1.37522e-17	1.63409e-17	1	0	T	52860601	G	T	52860601	3	4	340	1	0	0	0	0	1	0	0	0	9082	1174	41	2	59	2	LRRC66	4	52860601	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08		52860601	138293675	15	63822											
PAPD7	11044	broad.mit.edu	37	chr5	6755014	6755014	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggctggaggaggaaaaaaCacacacacacacgggacagt	16	2	12	11	2	0	0	0	0	0	0	0	4	0	4	1	5	1	1	1	5	3	0			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr5:6755014C>A	ENST00000230859.6	+	13	1714	c.1585C>A	c.(1585-1587)Cac>Aac	p.H529N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	529					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAGGAAAAAACACACACACAC	0.657													8	24					3.09899e-07	3.51683e-07	1	0	A	6755014	C	A	6755014	3	1	340	1	0	0	0	0	1	0	0	0	11497	478	17	4	1631	4	PAPD7	5	6755014	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08		6755014	174160246	16	63823											
NIPBL	25836	broad.mit.edu	37	chr5	36986127	36986127	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttatttgttggggggcAggtctggtgcgttgaaaaat	9	13	15	4	1	1	1	0	1	1	0	1	1	1	1	0	5	1	4	0	5	4	4			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr5:36986127A>G	ENST00000282516.8	+	10	3344	c.2845A>G	c.(2845-2847)Agg>Ggg	p.R949G	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.R949G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	949					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GTTGGGGGGCAGGTCTGGTGC	0.398													32	76					0	0	0	0	G	36986127	A	G	36986127	3	3	340	1	0	0	0	0	1	0	0	0	10498	179	7	5	2879	5	NIPBL	5	36986127	Missense_Mutation	SNP	A	TCGA-CV-A460-01A-21D-A25D-08	30231113	36986127	143929133	17	63824											
HCN1	348980	broad.mit.edu	37	chr5	45262440	45262440	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggtgtctgtggctgcggGgacggctgctgtggctgagt	3	10	19	9	2	1	1	0	1	1	0	1	2	1	2	1	6	2	4	1	6	0	0			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr5:45262440G>C	ENST00000303230.4	-	8	2313	c.2256C>G	c.(2254-2256)tcC>tcG	p.S752S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	752	Gln-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTGGCTGCGGGGACGgctgct	0.642													12	33					0	0	0	0	C	45262440	G	C	45262440	2	2	340	1	0	0	0	0	0	0	0	1	7046	1219	43	4		4	HCN1	5	45262440	Silent	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	8276313	45262440	135652820	18	63825											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720248	140720248	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccctgccttccccacagaCggttccactggcgtggagct	6	9	10	16	2	0	1	0	0	0	1	2	2	2	2	5	3	3	2	5	3	1	3			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr5:140720248C>T	ENST00000394576.2	+	1	1710	c.1710C>T	c.(1708-1710)gaC>gaT	p.D570D	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCACAGACGGTTCCACTG	0.642													76	97					0	0	0	0	T	140720248	C	T	140720248	2	4	340	1	0	0	0	0	0	0	0	1	11625	535	19	1		1	PCDHGA2	5	140720248	Silent	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	95457808	140720248	40195012	19	63826											
PRPF4B	8899	broad.mit.edu	37	chr6	4032971	4032971	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgacgagaaccagagaggaGacgactttcttctccaaggt	13	7	11	10	3	2	3	0	0	2	3	3	8	2	3	2	2	1	0	2	2	2	2			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr6:4032971G>C	ENST00000337659.6	+	2	1320	c.1220G>C	c.(1219-1221)aGa>aCa	p.R407T	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R393T	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	407	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCAGAGAGGAGACGACTTTCT	0.433													19	80					0	0	0	0	C	4032971	G	C	4032971	3	2	340	1	0	0	0	0	1	0	0	0	12653	942	33	2	1226	2	PRPF4B	6	4032971	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08		4032971	167082096	20	63827											
SYNE1	23345	broad.mit.edu	37	chr6	152651161	152651161	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctcagtctggaagtctaTactctgcaccattcggctct	8	13	7	13	1	5	0	1	0	5	0	7	1	5	1	1	2	2	2	1	2	3	3			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr6:152651161T>C	ENST00000367255.5	-	78	15260	c.14659A>G	c.(14659-14661)Ata>Gta	p.I4887V	SYNE1_ENST00000448038.1_Missense_Mutation_p.I4816V|SYNE1_ENST00000341594.5_Missense_Mutation_p.I4634V|SYNE1_ENST00000265368.4_Missense_Mutation_p.I4887V|SYNE1_ENST00000423061.1_Missense_Mutation_p.I4816V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4887					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGAAGTCTATACTCTGCACC	0.542										HNSCC(10;0.0054)			21	78					0	0	0	0	C	152651161	T	C	152651161	3	2	340	1	0	0	0	0	1	0	0	0	15536	1406	49	5	12083	5	SYNE1	6	152651161	Missense_Mutation	SNP	T	TCGA-CV-A460-01A-21D-A25D-08	148618190	152651161	18463906	21	63828											
PDE10A	10846	broad.mit.edu	37	chr6	165756893	165756893	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatacctcagcccagaatTctgcatatatatcatttgcc	12	12	5	12	0	3	1	2	0	1	1	3	2	3	1	3	0	4	1	3	0	5	6			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr6:165756893T>C	ENST00000366882.1	-	20	2208	c.2054A>G	c.(2053-2055)gAa>gGa	p.E685G	PDE10A_ENST00000354448.4_Missense_Mutation_p.E685G|PDE10A_ENST00000539869.2_Missense_Mutation_p.E695G			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	685					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGCCCAGAATTCTGCATATAT	0.378													13	52					0	0	0	0	C	165756893	T	C	165756893	3	2	340	1	0	0	0	0	1	0	0	0	11701	1783	62	5	301	5	PDE10A	6	165756893	Missense_Mutation	SNP	T	TCGA-CV-A460-01A-21D-A25D-08	13105732	165756893	5358174	22	63829											
PCLO	27445	broad.mit.edu	37	chr7	82585749	82585749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgaatcataaggctctCttctagtagttatgtcatca	12	14	6	9	0	5	1	3	1	2	0	6	1	5	1	0	1	1	3	0	1	6	5			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr7:82585749C>A	ENST00000423517.2	-	5	4857	c.4520G>T	c.(4519-4521)aGa>aTa	p.R1507I	PCLO_ENST00000333891.8_Missense_Mutation_p.R1507I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1438					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R1507K(2)|p.R1438K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATAAGGCTCTCTTCTAGTAGT	0.383													12	43					0.00010058	0.000106932	1	0	A	82585749	C	A	82585749	3	1	340	1	0	0	0	0	1	0	0	0	11654	913	32	2	11009	2	PCLO	7	82585749	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08		82585749	76552914	23	63830											
ABCB1	5243	broad.mit.edu	37	chr7	87138751	87138751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacgatgcccaggtgtgctCggagccactgaacattcagt	10	8	11	12	2	1	1	1	1	0	0	2	3	1	2	2	2	4	1	2	2	1	1			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr7:87138751C>T	ENST00000265724.3	-	27	3746	c.3329G>A	c.(3328-3330)cGa>cAa	p.R1110Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.R1046Q|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1110	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CAGGTGTGCTCGGAGCCACTG	0.502													18	67					0	0	0	0	T	87138751	C	T	87138751	3	4	340	1	0	0	0	0	1	0	0	0	40	884	31	1	525	1	ABCB1	7	87138751	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	4553002	87138751	71999912	24	63831											
DPP6	1804	broad.mit.edu	37	chr7	154585912	154585912	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacgggggtctgcacgaaGgtacgcggggctgtgggggt	6	6	20	9	4	1	0	0	0	1	0	1	1	1	0	1	7	2	3	1	7	2	1			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr7:154585912G>C	ENST00000404039.1	+	11	1655	c.1068_splice	c.e11+1	p.K356_splice	DPP6_ENST00000377770.3_Splice_Site_p.K420_splice|DPP6_ENST00000332007.3_Splice_Site_p.K358_splice|DPP6_ENST00000427557.1_Splice_Site_p.K313_splice	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	420					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTGCACGAAGGTACGCGGGG	0.692													4	13					0	0	0	0	C	154585912	G	C	154585912	5	2	340	1	0	0	0	0	0	0	1	0	4766	1014	35	4	1418	4	DPP6	7	154585912	Splice_Site	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	67447161	154585912	4552751	25	63832											
DLC1	10395	broad.mit.edu	37	chr8	12957134	12957134	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaggatgtcgtccagctcGgggaagatgtcctcgttctc	7	11	13	10	3	1	2	0	0	1	2	7	4	3	4	2	3	1	2	2	3	2	2			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr8:12957134G>A	ENST00000276297.4	-	9	3121	c.2712C>T	c.(2710-2712)ccC>ccT	p.P904P	DLC1_ENST00000520226.1_Silent_p.P393P|DLC1_ENST00000512044.2_Silent_p.P501P|DLC1_ENST00000358919.2_Silent_p.P467P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	904					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGTCCAGCTCGGGGAAGATGT	0.582													5	25					0	0	0	0	A	12957134	G	A	12957134	2	1	340	1	0	0	0	0	0	0	0	1	4587	1103	39	1		1	DLC1	8	12957134	Silent	SNP	G	TCGA-CV-A460-01A-21D-A25D-08		12957134	133406888	26	63833											
TRPA1	8989	broad.mit.edu	37	chr8	72975038	72975038	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatatgaagagttacctccActgggtctatttgtgcacca	11	12	9	9	0	1	2	0	1	1	1	2	3	2	2	3	1	2	2	3	1	5	4			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr8:72975038A>C	ENST00000262209.4	-	6	1010	c.803T>G	c.(802-804)gTg>gGg	p.V268G		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	268						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGTTACCTCCACTGGGTCTAT	0.358													21	44					0	0	0	0	C	72975038	A	C	72975038	3	2	340	1	0	0	0	0	1	0	0	0	16672	159	6	5	2644	5	TRPA1	8	72975038	Missense_Mutation	SNP	A	TCGA-CV-A460-01A-21D-A25D-08	60017904	72975038	73388984	27	63834											
FZD6	8323	broad.mit.edu	37	chr8	104337639	104337639	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgacacttctcggatgttaCgtctatgagcaagtgaacag	11	11	11	8	2	2	3	0	3	2	0	3	4	2	4	0	1	3	2	0	1	4	3			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr8:104337639C>G	ENST00000358755.4	+	4	1622	c.1305C>G	c.(1303-1305)taC>taG	p.Y435*	FZD6_ENST00000540287.1_Nonsense_Mutation_p.Y130*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.Y403*|FZD6_ENST00000522566.1_Nonsense_Mutation_p.Y435*	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	435					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TCGGATGTTACGTCTATGAGC	0.418													32	140					0	0	0	0	G	104337639	C	G	104337639	4	3	340	1	0	0	0	0	0	1	0	0	6182	547	19	3	1315	3	FZD6	8	104337639	Nonsense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	31362601	104337639	42026383	28	63835											
CSMD3	114788	broad.mit.edu	37	chr8	113277717	113277717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagccattcaattccatcGtgtagcctggctggcacatg	8	11	11	11	1	1	0	1	0	0	0	3	1	2	1	3	3	2	3	3	3	2	3	rs144899938	byFrequency	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr8:113277717G>A	ENST00000297405.5	-	60	9855	c.9611C>T	c.(9610-9612)aCg>aTg	p.T3204M	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3134M|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3164M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3035M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3204	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAATTCCATCGTGTAGCCTGG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			30	94					0	0	0	0	A	113277717	G	A	113277717	3	1	340	1	0	0	0	0	1	0	0	0	3978	1145	40	1	1560	1	CSMD3	8	113277717	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	8940078	113277717	33086305	29	63836											
PLAA	9373	broad.mit.edu	37	chr9	26910396	26910396	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttttttagggaaataaaTattcattgttttagatgcag	12	18	7	4	0	2	1	1	0	1	1	2	2	2	2	0	1	1	2	0	1	6	9			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr9:26910396T>C	ENST00000397292.3	-	12	2014	c.1597A>G	c.(1597-1599)Att>Gtt	p.I533V	PLAA_ENST00000520884.1_Missense_Mutation_p.I533V	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	533	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GGGAAATAAATATTCATTGTT	0.313													10	31					0	0	0	0	C	26910396	T	C	26910396	3	2	340	1	0	0	0	0	1	0	0	0	12083	1406	49	5	802	5	PLAA	9	26910396	Missense_Mutation	SNP	T	TCGA-CV-A460-01A-21D-A25D-08		26910396	114303035	30	63837											
ZNF169	169841	broad.mit.edu	37	chr9	97063546	97063546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccattctggggagaagcCgtatgtctgcagggagtgtg	8	9	16	8	1	2	1	0	0	2	1	2	4	2	2	2	3	2	2	2	3	2	2			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr9:97063546C>T	ENST00000395395.2	+	5	1796	c.1706C>T	c.(1705-1707)cCg>cTg	p.P569L	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	569						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GGGGAGAAGCCGTATGTCTGC	0.562													12	54					0	0	0	0	T	97063546	C	T	97063546	3	4	340	1	0	0	0	0	1	0	0	0	17837	652	23	1	1720	1	ZNF169	9	97063546	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	70153150	97063546	44149885	31	63838											
TBC1D2	55357	broad.mit.edu	37	chr9	101017691	101017691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atacccacagagtttcttggGgaccgcctccagggaccggg	8	7	13	13	2	1	1	0	0	1	1	2	3	2	3	5	4	1	1	5	4	1	3			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr9:101017691G>A	ENST00000375066.5	-	1	224	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.P45S	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	45	Interaction with CADH1.|PH.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGTTTCTTGGGGACCGCCTCC	0.612													4	58					0	0	0	0	A	101017691	G	A	101017691	3	1	340	1	0	0	0	0	1	0	0	0	15699	1232	43	4	2672	4	TBC1D2	9	101017691	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	3954145	101017691	40195740	32	63839											
SPOCK2	9806	broad.mit.edu	37	chr10	73822656	73822656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtcccccgagaagcccacGatgtcatctgtgaggggatc	10	7	12	12	2	2	2	1	1	1	1	4	5	3	3	3	2	1	0	3	2	2	0			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr10:73822656G>A	ENST00000373109.2	-	11	1581	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	SPOCK2_ENST00000317376.4_Silent_p.I379I|SPOCK2_ENST00000536168.1_Silent_p.I379I	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	379					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGAAGCCCACGATGTCATCTG	0.672													6	13					0	0	0	0	A	73822656	G	A	73822656	2	1	340	1	0	0	0	0	0	0	0	1	15170	1048	37	1		1	SPOCK2	10	73822656	Silent	SNP	G	TCGA-CV-A460-01A-21D-A25D-08		73822656	61712091	33	63840											
ZNF511	118472	broad.mit.edu	37	chr10	135123764	135123764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtaccccgcggacttcCggtttgataagccaaagaaa	12	8	9	12	3	0	2	0	1	0	1	1	3	1	3	5	2	2	2	5	2	4	4			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr10:135123764C>T	ENST00000359035.3	+	4	529	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	ZNF511_ENST00000368554.4_Missense_Mutation_p.R111W|ZNF511_ENST00000361518.5_Missense_Mutation_p.R176W|ZNF511_ENST00000463816.2_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CGCGGACTTCCGGTTTGATAA	0.512													24	83					0	0	0	0	T	135123764	C	T	135123764	3	4	340	1	0	0	0	0	1	0	0	0	18050	643	23	1	540	1	ZNF511	10	135123764	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	61301108	135123764	410983	34	63841											
C2CD3	26005	broad.mit.edu	37	chr11	73753183	73753183	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaagggtgcctctccctgaAgatgcagggattcatgaaac	11	8	12	10	0	2	3	1	2	1	1	3	4	2	4	2	2	3	2	2	2	3	1			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr11:73753183A>C	ENST00000334126.7	-	29	5802	c.5576T>G	c.(5575-5577)cTt>cGt	p.L1859R	C2CD3_ENST00000313663.7_Missense_Mutation_p.L1859R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1859						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTCTCCCTGAAGATGCAGGGA	0.468													7	61					0	0	0	0	C	73753183	A	C	73753183	3	2	340	1	0	0	0	0	1	0	0	0	2174	72	3	5	327	5	C2CD3	11	73753183	Missense_Mutation	SNP	A	TCGA-CV-A460-01A-21D-A25D-08		73753183	61253333	35	63842											
ENDOD1	23052	broad.mit.edu	37	chr11	94862701	94862701	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtttttagtgtctgcaagcgGattggctacaaggttacttt	8	16	11	6	1	1	0	0	0	1	0	1	1	1	1	0	3	4	4	0	3	5	7			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr11:94862701G>T	ENST00000278505.4	+	2	1579	c.1461G>T	c.(1459-1461)cgG>cgT	p.R487R		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	487						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TCTGCAAGCGGATTGGCTACA	0.433													11	53					1.58986e-06	1.76457e-06	1	0	T	94862701	G	T	94862701	2	4	340	1	0	0	0	0	0	0	0	1	5152	1161	41	2		2	ENDOD1	11	94862701	Silent	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	21109518	94862701	40143815	36	63843											
JRKL	8690	broad.mit.edu	37	chr11	96125155	96125155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaagtgttaactgatagcGaaatcatcagaagagcacaa	18	8	9	6	1	2	4	2	2	0	2	2	5	2	4	0	0	3	2	0	0	6	2	rs148141652		TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr11:96125155G>A	ENST00000458427.1	+	1	1998	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Missense_Mutation_p.E448K	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	448					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		AACTGATAGCGAAATCATCAG	0.408													16	35					0	0	0	0	A	96125155	G	A	96125155	3	1	340	1	0	0	0	0	1	0	0	0	8018	1059	37	1	1344	1	JRKL	11	96125155	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	1262454	96125155	38881361	37	63844											
TTC12	54970	broad.mit.edu	37	chr11	113211391	113211391	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtatctgtttcaggcacaGaacaaactttattcagaatg	13	14	7	7	0	3	2	2	0	1	2	3	2	3	2	0	1	2	3	0	1	5	6			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr11:113211391G>C	ENST00000393020.1	+	11	1237	c.832G>C	c.(832-834)Gaa>Caa	p.E278Q	TTC12_ENST00000483239.2_Missense_Mutation_p.E284Q|TTC12_ENST00000314756.3_Missense_Mutation_p.E278Q|TTC12_ENST00000529221.1_Missense_Mutation_p.E278Q			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	278							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TTCAGGCACAGAACAAACTTT	0.443													9	33					0	0	0	0	C	113211391	G	C	113211391	3	2	340	1	0	0	0	0	1	0	0	0	16775	943	33	2	870	2	TTC12	11	113211391	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	17086236	113211391	21795125	38	63845											
HYLS1	219844	broad.mit.edu	37	chr11	125769445	125769445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagtagccccagggaagcGacctgctcttcctgtgcaac	8	9	10	14	1	2	0	1	0	1	0	3	2	3	1	4	1	5	3	4	1	3	3			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr11:125769445G>A	ENST00000425380.2	+	3	963	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	HYLS1_ENST00000526028.1_Missense_Mutation_p.R61Q|HYLS1_ENST00000356438.3_Missense_Mutation_p.R61Q|PUS3_ENST00000227474.3_Intron	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	61						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CCAGGGAAGCGACCTGCTCTT	0.507													18	36					0	0	0	0	A	125769445	G	A	125769445	3	1	340	1	0	0	0	0	1	0	0	0	7522	1058	37	1	184	1	HYLS1	11	125769445	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	12558054	125769445	9237071	39	63846											
LRRC10	376132	broad.mit.edu	37	chr12	70003993	70003993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagacttgacaggtgcGccaggctggggaagtaacgg	9	7	16	9	2	1	2	1	1	0	1	1	3	1	3	1	5	2	3	1	5	2	3			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr12:70003993G>A	ENST00000361484.3	-	1	949	c.626C>T	c.(625-627)gCg>gTg	p.A209V		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	209						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGACAGGTGCGCCAGGCTGGG	0.572													13	58					0	0	0	0	A	70003993	G	A	70003993	3	1	340	1	0	0	0	0	1	0	0	0	9031	1087	38	1	211	1	LRRC10	12	70003993	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08		70003993	63847902	40	63847											
CIT	11113	broad.mit.edu	37	chr12	120222864	120222864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggagtccagacccgacacaAcagacctaggtagagaaaaa	17	3	11	10	1	0	3	0	0	0	3	1	6	1	4	3	2	1	1	3	2	5	2			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr12:120222864A>G	ENST00000392521.2	-	11	1356	c.1301T>C	c.(1300-1302)gTt>gCt	p.V434A	CIT_ENST00000261833.7_Missense_Mutation_p.V434A	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	434					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACCCGACACAACAGACCTAGG	0.463													5	32					0	0	0	0	G	120222864	A	G	120222864	3	3	340	1	0	0	0	0	1	0	0	0	3468	43	2	5	4930	5	CIT	12	120222864	Missense_Mutation	SNP	A	TCGA-CV-A460-01A-21D-A25D-08	50218871	120222864	13629031	41	63848											
MTIF3	219402	broad.mit.edu	37	chr13	28014281	28014281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagtctaatcacatttgctCggtgcatgtttcccaaatca	11	14	6	10	1	3	0	2	0	1	0	5	0	4	0	1	1	2	3	1	1	3	4			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr13:28014281C>T	ENST00000381116.1	-	5	539	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	MTIF3_ENST00000405591.2_Missense_Mutation_p.R102Q|MTIF3_ENST00000381120.3_Missense_Mutation_p.R102Q|MTIF3_ENST00000431572.2_Missense_Mutation_p.R102Q|MTIF3_ENST00000461838.1_5'UTR			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	102					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CACATTTGCTCGGTGCATGTT	0.413													21	107					0	0	0	0	T	28014281	C	T	28014281	3	4	340	1	0	0	0	0	1	0	0	0	10005	884	31	1	543	1	MTIF3	13	28014281	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08		28014281	87155597	42	63849											
MYO16	23026	broad.mit.edu	37	chr13	109707832	109707838	+	Frame_Shift_Del	DEL	TTGATAA	TTGATAA	-																															ctcaaagctgccagatacttTtgataatttttacgtgtctg																										TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr13:109707832_109707838delTTGATAA	ENST00000356711.2	+	27	3284_3290	c.3158_3164delTTGATAA	c.(3157-3165)ttfs	p.FDN1053fs	MYO16_ENST00000357550.2_Frame_Shift_Del_p.FDN1053fs|MYO16_ENST00000457511.2_Frame_Shift_Del_p.FDN565fs	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1053	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCAGATACTTTTGATAATTTTTACGTG	0.415													14	69	---	---	---	---					-	109707838	TTGATAA	-	109707832	7	5	340	1	0	1	0	1	0	0	0	0	10134	1841	64	0	3260	0	MYO16	13	109707832	Frame_Shift_Del	DEL	TTGATAA	TCGA-CV-A460-01A-21D-A25D-08	81693551	109707832	5462046	43	63850											
OR4Q3	441669	broad.mit.edu	37	chr14	20215606	20215606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaaaaaagaacaagattCtaatgtgacagaatttgttc	18	11	8	4	0	1	5	0	2	1	3	2	6	1	5	0	0	1	1	0	0	7	4			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr14:20215606C>T	ENST00000331723.1	+	1	20	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAACAAGATTCTAATGTGACA	0.333													13	120					0	0	0	0	T	20215606	C	T	20215606	3	4	340	1	0	0	0	0	1	0	0	0	11152	913	32	2	22	2	OR4Q3	14	20215606	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08		20215606	87133934	44	63851											
RYR3	6263	broad.mit.edu	37	chr15	33765661	33765661	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcgccaccattcataaGgagcagaggaagttctgcct	11	9	10	11	1	2	1	1	0	1	1	3	3	2	3	3	2	3	3	3	2	2	3			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr15:33765661G>A	ENST00000389232.4	+	2	163	c.93G>A	c.(91-93)aaG>aaA	p.K31K	RYR3_ENST00000415757.3_Silent_p.K31K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	31					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATTCATAAGGAGCAGAGGA	0.567													27	62					0	0	0	0	A	33765661	G	A	33765661	2	1	340	1	0	0	0	0	0	0	0	1	13855	991	35	4		4	RYR3	15	33765661	Silent	SNP	G	TCGA-CV-A460-01A-21D-A25D-08		33765661	68765731	45	63852											
WDR72	256764	broad.mit.edu	37	chr15	53905881	53905881	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accatttcgtaagcaactgtAgaagcttgacatatttaaaa	16	12	6	7	1	0	2	0	1	0	1	1	2	0	2	1	0	3	4	1	0	7	7			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr15:53905881A>C	ENST00000396328.1	-	16	3093	c.2854T>G	c.(2854-2856)Tac>Gac	p.Y952D	WDR72_ENST00000360509.5_Missense_Mutation_p.Y952D|WDR72_ENST00000557913.1_Missense_Mutation_p.Y949D|WDR72_ENST00000559418.1_Missense_Mutation_p.Y962D	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	952										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAGCAACTGTAGAAGCTTGAC	0.333													17	43					0	0	0	0	C	53905881	A	C	53905881	3	2	340	1	0	0	0	0	1	0	0	0	17418	420	15	5	474	5	WDR72	15	53905881	Missense_Mutation	SNP	A	TCGA-CV-A460-01A-21D-A25D-08	20140220	53905881	48625511	46	63853											
UNC13C	440279	broad.mit.edu	37	chr15	54542428	54542428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcatgttcacagaaaatGcacgtcttcaagaagacctt	13	11	6	11	1	4	3	3	0	2	3	5	3	4	3	1	0	1	2	1	0	4	3			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr15:54542428G>T	ENST00000545554.1	+	7	3234	c.3234G>T	c.(3232-3234)atG>atT	p.M1078I	UNC13C_ENST00000537900.1_Missense_Mutation_p.M1076I|UNC13C_ENST00000260323.11_Missense_Mutation_p.M1078I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1078					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CACAGAAAATGCACGTCTTCA	0.418													5	22					5.9392e-07	6.6651e-07	1	0	T	54542428	G	T	54542428	3	4	340	1	0	0	0	0	1	0	0	0	17082	1319	46	4	3256	4	UNC13C	15	54542428	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	636547	54542428	47988964	47	63854											
AKAP13	11214	broad.mit.edu	37	chr15	86189094	86189094	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgggcagagagtgtacctCaaaacaaggtgtacttaaaa	16	8	10	7	0	1	1	1	0	0	1	1	2	1	1	1	2	3	3	1	2	7	3			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr15:86189094C>G	ENST00000394518.2	+	10	4378	c.4283C>G	c.(4282-4284)tCa>tGa	p.S1428*	RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1428*	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1428					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGTGTACCTCAAAACAAGGT	0.383													25	58					0	0	0	0	G	86189094	C	G	86189094	4	3	340	1	0	0	0	0	0	1	0	0	449	838	29	2	4317	2	AKAP13	15	86189094	Nonsense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	31646666	86189094	16342298	48	63855											
WDR90	197335	broad.mit.edu	37	chr16	711667	711667	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgtgtcctccacccgcctCccggagccggtgcatggtgt	3	9	12	17	4	0	0	0	0	0	0	4	1	3	1	6	3	2	1	6	3	0	0			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr16:711667C>A	ENST00000549091.1	+	31	3836	c.3744C>A	c.(3742-3744)ctC>ctA	p.L1248L	WDR90_ENST00000293879.4_Silent_p.L1248L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1248										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCACCCGCCTCCCGGAGCCGG	0.687													9	46					0.000274275	0.00028856	1	0	A	711667	C	A	711667	2	1	340	1	0	0	0	0	0	0	0	1	17433	842	30	2		2	WDR90	16	711667	Silent	SNP	C	TCGA-CV-A460-01A-21D-A25D-08		711667	89643086	49	63856											
HS3ST4	9951	broad.mit.edu	37	chr16	26147192	26147192	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcttcctggagtgccattCgaatagggatctatgcgctg	8	12	12	9	2	1	0	0	0	1	0	3	3	2	2	2	2	3	2	2	2	3	4			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr16:26147192C>T	ENST00000331351.5	+	2	1386	c.994C>T	c.(994-996)Cga>Tga	p.R332*	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	332					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAGTGCCATTCGAATAGGGAT	0.552													40	150					0	0	0	0	T	26147192	C	T	26147192	4	4	340	1	0	0	0	0	0	1	0	0	7417	876	31	1	1000	1	HS3ST4	16	26147192	Nonsense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	25435525	26147192	64207561	50	63857											
ZNF646	9726	broad.mit.edu	37	chr16	31087973	31087973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggcacaggcccccacgcCccaaggaagccactccacac	11	1	9	20	1	0	0	0	0	0	0	1	1	1	1	6	3	1	2	6	3	2	0			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr16:31087973C>T	ENST00000394979.2	+	1	751	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	ZNF646_ENST00000300850.5_Missense_Mutation_p.P110S			O15015	ZN646_HUMAN	zinc finger protein 646	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCCCCCACGCCCCAAGGAAGC	0.597													12	47					0	0	0	0	T	31087973	C	T	31087973	3	4	340	1	0	0	0	0	1	0	0	0	18157	623	22	4	330	4	ZNF646	16	31087973	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	4940781	31087973	59266780	51	63858											
ARMC5	79798	broad.mit.edu	37	chr16	31473893	31473893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctaatggagctagccCaacctcccagcagcccctgg	9	6	10	16	0	0	0	0	0	0	0	2	2	2	2	6	3	5	2	6	3	3	2			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr16:31473893C>T	ENST00000457010.2	+	3	1726	c.1025C>T	c.(1024-1026)cCa>cTa	p.P342L	ARMC5_ENST00000563544.1_Missense_Mutation_p.P342L|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.P342L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P437L|ARMC5_ENST00000538189.1_Missense_Mutation_p.P374L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	342							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGAGCTAGCCCAACCTCCCAG	0.647													14	37					0	0	0	0	T	31473893	C	T	31473893	3	4	340	1	0	0	0	0	1	0	0	0	958	594	21	4	1035	4	ARMC5	16	31473893	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	385920	31473893	58880860	52	63859											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	17					0	0	0	0	T	7577120	C	T	7577120	3	4	340	1	0	0	0	0	1	0	0	0	16476	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08		7577120	73618090	53	63860											
DNAH9	1770	broad.mit.edu	37	chr17	11696832	11696832	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaagggcattctcttcTcctcagtggaatgtgtgaaa	9	13	10	9	0	3	2	1	2	2	0	5	3	3	3	2	2	0	1	2	2	3	3			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:11696832T>G	ENST00000262442.3	+	42	8142	c.8074T>G	c.(8074-8076)Tcc>Gcc	p.S2692A	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2692A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2692					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATTCTCTTCTCCTCAGTGGA	0.388													20	44					0	0	0	0	G	11696832	T	G	11696832	3	3	340	1	0	0	0	0	1	0	0	0	4644	1551	54	5	8240	5	DNAH9	17	11696832	Missense_Mutation	SNP	T	TCGA-CV-A460-01A-21D-A25D-08	4119712	11696832	69498378	54	63861											
KIAA0100	9703	broad.mit.edu	37	chr17	26955288	26955288	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccccgagcttacctcctGatgaccccttatcaggttgt	6	13	7	15	1	2	2	1	2	1	0	4	3	3	2	6	1	2	2	6	1	2	3			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:26955288G>T	ENST00000528896.2	-	24	4663	c.4589C>A	c.(4588-4590)tCa>tAa	p.S1530*	KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.S1387*|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.S1387*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1530						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTTACCTCCTGATGACCCCTT	0.507													8	68					0.0477658	0.0482434	1	0	T	26955288	G	T	26955288	4	4	340	1	0	0	0	0	0	1	0	0	8205	1294	45	2	2182	2	KIAA0100	17	26955288	Nonsense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	15258456	26955288	54239922	55	63862											
COASY	80347	broad.mit.edu	37	chr17	40714726	40714726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccatcctgacctcggCggcccggctggtgaatcaca	6	7	12	16	3	1	2	1	2	0	0	4	2	3	2	5	5	0	1	5	5	1	0			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:40714726C>A	ENST00000393818.2	+	1	542	c.86C>A	c.(85-87)gCg>gAg	p.A29E	COASY_ENST00000449624.1_Intron|COASY_ENST00000420359.1_Missense_Mutation_p.A29E|COASY_ENST00000421097.2_Missense_Mutation_p.A29E|COASY_ENST00000590958.1_Missense_Mutation_p.A58E	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	29					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTGACCTCGGCGGCCCGGCTG	0.692													12	67					6.40141e-05	6.87811e-05	1	0	A	40714726	C	A	40714726	3	1	340	1	0	0	0	0	1	0	0	0	3682	768	27	3	179	3	COASY	17	40714726	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	13759438	40714726	40480484	56	63863											
SLC38A10	124565	broad.mit.edu	37	chr17	79226015	79226015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtggtcgctgtcctctgcgGgctgccctgtgtccccggcg	0	10	15	16	5	1	0	0	0	1	0	4	0	3	0	4	3	2	2	4	3	0	0			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:79226015G>A	ENST00000374759.3	-	13	2308	c.1925C>T	c.(1924-1926)cCc>cTc	p.P642L	SLC38A10_ENST00000288439.5_Missense_Mutation_p.P642L	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	642					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTCCTCTGCGGGCTGCCCTGT	0.697													55	101					0	0	0	0	A	79226015	G	A	79226015	3	1	340	1	0	0	0	0	1	0	0	0	14690	1232	43	4	1728	4	SLC38A10	17	79226015	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	38511289	79226015	1969195	57	63864											
CETN1	1068	broad.mit.edu	37	chr18	580457	580457	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctccaccggccaaaagAgaaaggtggcacctaagccc	12	4	10	15	1	0	1	0	0	0	1	1	2	1	1	6	3	2	1	6	3	4	1			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr18:580457A>G	ENST00000327228.3	+	1	91	c.49A>G	c.(49-51)Aga>Gga	p.R17G		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	17					cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CGGCCAAAAGAGAAAGGTGGC	0.622													5	14					0	0	0	0	G	580457	A	G	580457	3	3	340	1	0	0	0	0	1	0	0	0	3303	296	11	5	51	5	CETN1	18	580457	Missense_Mutation	SNP	A	TCGA-CV-A460-01A-21D-A25D-08		580457	77496791	58	63865											
MEP1B	4225	broad.mit.edu	37	chr18	29793353	29793353	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttaaatctagcccatgtGactaatgcagggatatattt	13	14	7	7	0	1	1	0	1	1	0	1	2	1	2	1	1	3	1	1	1	7	7			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr18:29793353G>A	ENST00000269202.6	+	11	1457	c.1410G>A	c.(1408-1410)gtG>gtA	p.V470V	MEP1B_ENST00000581447.1_Silent_p.V470V	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	470	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TAGCCCATGTGACTAATGCAG	0.418													8	24					0	0	0	0	A	29793353	G	A	29793353	2	1	340	1	0	0	0	0	0	0	0	1	9545	1277	45	2		2	MEP1B	18	29793353	Silent	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	29212896	29793353	48283895	59	63866											
SLC14A1	6563	broad.mit.edu	37	chr18	43329753	43329753	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccccaggttggattgcCagcttgtacctggcccttct	4	14	9	14	0	2	0	0	0	2	0	3	1	3	1	5	3	3	3	5	3	1	6			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr18:43329753C>G	ENST00000321925.4	+	10	1239	c.1007C>G	c.(1006-1008)cCa>cGa	p.P336R	SLC14A1_ENST00000586142.1_Missense_Mutation_p.P336R|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P228R|SLC14A1_ENST00000436407.3_Missense_Mutation_p.P392R|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P392R|SLC14A1_ENST00000535474.1_Missense_Mutation_p.P204R|SLC14A1_ENST00000589700.1_Missense_Mutation_p.Q287E|SLC14A1_ENST00000402943.2_Missense_Mutation_p.P231R|SLC14A1_ENST00000591541.1_Missense_Mutation_p.P40R	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	336						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GTTGGATTGCCAGCTTGTACC	0.493													16	69					0	0	0	0	G	43329753	C	G	43329753	3	3	340	1	0	0	0	0	1	0	0	0	14484	594	21	4	1209	4	SLC14A1	18	43329753	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	13536400	43329753	34747495	60	63867											
KCNG2	26251	broad.mit.edu	37	chr18	77659548	77659548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacggcgacatggtcccgcGcagcctgcccgggcaggtgg	5	5	16	15	5	0	0	0	0	0	0	1	1	1	0	3	5	3	2	3	5	1	1			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr18:77659548G>A	ENST00000316249.3	+	2	1133	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	378					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ATGGTCCCGCGCAGCCTGCCC	0.687													12	34					0	0	0	0	A	77659548	G	A	77659548	3	1	340	1	0	0	0	0	1	0	0	0	8081	1087	38	1	1139	1	KCNG2	18	77659548	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	34329795	77659548	417700	61	63868											
SGTA	6449	broad.mit.edu	37	chr19	2767622	2767622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatctccggcagagtctgagGgagcgcaaggtcactgtctt	8	10	13	10	2	4	2	1	1	3	1	5	3	4	3	1	3	1	2	1	3	2	2			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:2767622G>A	ENST00000221566.2	-	3	324	c.163C>T	c.(163-165)Cct>Tct	p.P55S		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	55					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		AGAGTCTGAGGGAGCGCAAGG	0.597													6	22					0	0	0	0	A	2767622	G	A	2767622	3	1	340	1	0	0	0	0	1	0	0	0	14312	1232	43	4	814	4	SGTA	19	2767622	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08		2767622	56361361	62	63869											
MAP2K7	5609	broad.mit.edu	37	chr19	7976464	7976464	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtccttcgtcaaagactgGtgagaacctccctccacttg	9	10	8	14	1	1	2	1	1	0	2	5	3	4	2	4	1	1	0	4	1	2	2			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:7976464G>T	ENST00000545011.1	+	9	1270		c.e9+1		MAP2K7_ENST00000397983.3_Splice_Site|MAP2K7_ENST00000397979.3_Splice_Site|MAP2K7_ENST00000397981.3_Splice_Site			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7						activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	TCAAAGACTGGTGAGAACCTC	0.632													3	10					0.004672	0.00476638	1	0	T	7976464	G	T	7976464	5	4	340	1	0	0	0	0	0	0	1	0	9311	1275	44	4	1114	4	MAP2K7	19	7976464	Splice_Site	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	5208842	7976464	51152519	63	63870											
ZNF763	284390	broad.mit.edu	37	chr19	12089640	12089640	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggtgtcattcctttcaaAtacatgaaagaactcacact	13	13	6	9	0	3	2	3	1	0	1	4	2	4	2	1	1	2	1	1	1	4	4			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:12089640A>G	ENST00000343949.5	+	4	1065	c.910A>G	c.(910-912)Ata>Gta	p.I304V	ZNF763_ENST00000545530.1_Missense_Mutation_p.I179V|ZNF763_ENST00000590798.1_Missense_Mutation_p.I321V|ZNF763_ENST00000358987.3_Missense_Mutation_p.I301V|ZNF763_ENST00000538752.1_Missense_Mutation_p.I321V	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TTCCTTTCAAATACATGAAAG	0.393													12	36					0	0	0	0	G	12089640	A	G	12089640	3	3	340	1	0	0	0	0	1	0	0	0	18231	101	4	5	924	5	ZNF763	19	12089640	Missense_Mutation	SNP	A	TCGA-CV-A460-01A-21D-A25D-08	4113176	12089640	47039343	64	63871											
ZNF564	163050	broad.mit.edu	37	chr19	12637897	12637897	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaactgaaggttttaccaCatttattacattcatagggt	14	14	7	6	0	1	2	1	1	0	1	1	2	1	2	1	2	3	1	1	2	7	7			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:12637897C>G	ENST00000339282.7	-	4	1221	c.1025G>C	c.(1024-1026)tGt>tCt	p.C342S	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GGTTTTACCACATTTATTACA	0.388													19	68					0	0	0	0	G	12637897	C	G	12637897	3	3	340	1	0	0	0	0	1	0	0	0	18090	478	17	4	640	4	ZNF564	19	12637897	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	548257	12637897	46491086	65	63872											
CHERP	10523	broad.mit.edu	37	chr19	16631002	16631002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccggcgtcttcttcctGgggagtacgacttggaccgg	5	10	15	11	4	2	1	0	1	2	0	3	4	3	3	3	5	1	1	3	5	1	4			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:16631002G>A	ENST00000546361.2	-	15	2571	c.2420C>T	c.(2419-2421)cCa>cTa	p.P807L	CHERP_ENST00000198939.6_Missense_Mutation_p.P818L|C19orf44_ENST00000221671.3_3'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	807	Arg-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TCTTCTTCCTGGGGAGTACGA	0.647													8	71					0	0	0	0	A	16631002	G	A	16631002	3	1	340	1	0	0	0	0	1	0	0	0	3365	1348	47	4	342	4	CHERP	19	16631002	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	3993105	16631002	42497981	66	63873											
PSG2	5670	broad.mit.edu	37	chr19	43576014	43576014	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtccaagaatactgtgccgGtgggttagagttcgcgaagc	9	10	14	8	3	0	2	0	0	0	2	2	3	1	2	2	2	3	2	2	2	5	3	rs141385747	by1000genomes	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:43576014G>C	ENST00000406487.1	-	4	900	c.802C>G	c.(802-804)Ccg>Gcg	p.P268A		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	268	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.P268S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TACTGTGCCGGTGGGTTAGAG	0.453													115	181					0	0	0	0	C	43576014	G	C	43576014	3	2	340	1	0	0	0	0	1	0	0	0	12734	1261	44	4	213	4	PSG2	19	43576014	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08	26945012	43576014	15552969	67	63874											
SLC24A3	57419	broad.mit.edu	37	chr20	19679321	19679321	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgtggattacggatcCtacgtaagtggttttctcca	7	14	11	9	2	1	0	0	0	1	0	3	2	2	2	2	4	2	3	2	4	3	5			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr20:19679321C>A	ENST00000328041.6	+	15	1913	c.1716C>A	c.(1714-1716)tcC>tcA	p.S572S		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	572						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATTACGGATCCTACGTAAGTG	0.537													3	9					0.115264	0.115264	1	0	A	19679321	C	A	19679321	2	1	340	1	0	0	0	0	0	0	0	1	14555	668	24	4		4	SLC24A3	20	19679321	Silent	SNP	C	TCGA-CV-A460-01A-21D-A25D-08		19679321	43346199	68	63875											
PLCG1	5335	broad.mit.edu	37	chr20	39788302	39788302	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agacctcacgggactttgatCgctatcaagaggacccagct	11	8	10	12	2	2	3	2	1	0	2	3	5	2	5	2	2	1	2	2	2	2	2			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr20:39788302C>G	ENST00000373272.2	+	2	679	c.274C>G	c.(274-276)Cgc>Ggc	p.R92G	PLCG1_ENST00000244007.3_Missense_Mutation_p.R92G|PLCG1_ENST00000373271.1_Missense_Mutation_p.R92G	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	92	PH 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGACTTTGATCGCTATCAAGA	0.517													12	44					0	0	0	0	G	39788302	C	G	39788302	3	3	340	1	0	0	0	0	1	0	0	0	12107	884	31	3	280	3	PLCG1	20	39788302	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	20108981	39788302	23237218	69	63876											
WISP2	8839	broad.mit.edu	37	chr20	43353459	43353459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagccccactgcagcatcCgctgccgctgcgaggacggc	6	5	12	18	4	0	0	0	0	0	0	2	2	2	1	5	2	5	4	5	2	0	0			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr20:43353459C>T	ENST00000372868.2	+	4	701	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000372865.4_Intron|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.R120C|RP11-445H22.4_ENST00000427598.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	120	VWFC.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTGCAGCATCCGCTGCCGCTG	0.682													9	13					0	0	0	0	T	43353459	C	T	43353459	3	4	340	1	0	0	0	0	1	0	0	0	17469	652	23	1	368	1	WISP2	20	43353459	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08	3565157	43353459	19672061	70	63877											
DSCAM	1826	broad.mit.edu	37	chr21	41711255	41711255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtgatcgtgggcaaaggtGttcccttcacgttgcacata	9	11	11	10	3	1	1	1	1	0	0	3	1	2	1	1	2	1	4	1	2	2	4			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr21:41711255G>T	ENST00000400454.1	-	7	1775	c.1298C>A	c.(1297-1299)aCa>aAa	p.T433K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	433	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGGCAAAGGTGTTCCCTTCAC	0.532													11	27					0.000673444	0.00069406	1	0	T	41711255	G	T	41711255	3	4	340	1	0	0	0	0	1	0	0	0	4804	1377	48	4	4848	4	DSCAM	21	41711255	Missense_Mutation	SNP	G	TCGA-CV-A460-01A-21D-A25D-08		41711255	6418640	71	63878											
COMT	1312	broad.mit.edu	37	chr22	19951227	19951227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catcaccatcgagatcaaccCcgactgtgccgccatcaccc	10	6	6	19	3	3	1	3	0	0	1	4	3	3	1	6	0	2	0	6	0	1	0	rs145228139	byFrequency	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr22:19951227C>T	ENST00000361682.6	+	4	810	c.428C>T	c.(427-429)cCc>cTc	p.P143L	COMT_ENST00000406520.3_Missense_Mutation_p.P143L|COMT_ENST00000403710.1_Missense_Mutation_p.P143L|COMT_ENST00000403184.1_Missense_Mutation_p.P143L|COMT_ENST00000493893.1_3'UTR|COMT_ENST00000449653.1_Missense_Mutation_p.P93L|COMT_ENST00000407537.1_Missense_Mutation_p.P93L	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	143					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	GAGATCAACCCCGACTGTGCC	0.632													5	20					0	0	0	0	T	19951227	C	T	19951227	3	4	340	1	0	0	0	0	1	0	0	0	3755	623	22	4	434	4	COMT	22	19951227	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08		19951227	31353339	72	63879											
FAM47A	158724	broad.mit.edu	37	chrX	34149966	34149966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacctgtagtaggagatCtggaggcatatcttctccca	10	10	10	11	0	3	1	0	0	3	1	4	3	3	2	2	3	1	4	2	3	3	4			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chrX:34149966C>A	ENST00000346193.3	-	1	481	c.430G>T	c.(430-432)Gat>Tat	p.D144Y		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	144										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGTAGGAGATCTGGAGGCATA	0.557													30	18					6.38683e-12	7.50081e-12	1	0	A	34149966	C	A	34149966	3	1	340	1	0	0	0	0	1	0	0	0	5616	913	32	2	1949	2	FAM47A	23	34149966	Missense_Mutation	SNP	C	TCGA-CV-A460-01A-21D-A25D-08		34149966	121120594	73	63880											
MCF2	4168	broad.mit.edu	37	chrX	138711911	138711911	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcttctattgagggaatAtcatctggtagttctgtctc	8	18	8	7	0	6	1	1	1	5	0	7	2	6	2	0	2	0	2	0	2	4	7			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chrX:138711911A>T	ENST00000520602.1	-	7	846	c.561T>A	c.(559-561)gaT>gaA	p.D187E	MCF2_ENST00000370578.4_Missense_Mutation_p.D272E|MCF2_ENST00000519895.1_Missense_Mutation_p.D187E|MCF2_ENST00000338585.6_Missense_Mutation_p.D127E|MCF2_ENST00000370576.4_Missense_Mutation_p.D127E|MCF2_ENST00000414978.1_Missense_Mutation_p.D187E|MCF2_ENST00000370573.4_Missense_Mutation_p.D127E|MCF2_ENST00000536274.1_Missense_Mutation_p.D88E			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	127					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTGAGGGAATATCATCTGGTA	0.398													48	52					0	0	0	0	T	138711911	A	T	138711911	3	4	340	1	0	0	0	0	1	0	0	0	9447	446	16	5	2564	5	MCF2	23	138711911	Missense_Mutation	SNP	A	TCGA-CV-A460-01A-21D-A25D-08	104561945	138711911	16558649	74	63881											
CHD5	26038	broad.mit.edu	37	chr1	6195444	6195444	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagatgtcagcaaactcctCcaggaagccctccaggttgc	10	7	11	13	0	1	1	1	0	0	1	4	3	4	2	4	3	4	2	4	3	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:6195444C>A	ENST00000262450.3	-	18	2815	c.2716G>T	c.(2716-2718)Gag>Tag	p.E906*	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	906					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCAAACTCCTCCAGGAAGCCC	0.587													16	74					1.15088e-07	1.34211e-07	1	0	A	6195444	C	A	6195444	4	1	341	1	0	0	0	0	0	1	0	0	3357	864	30	2	3244	2	CHD5	1	6195444	Nonsense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08		6195444	243055177	1	63882											
CAMTA1	23261	broad.mit.edu	37	chr1	7725032	7725032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctctcacagtcagaggacGgggcgcgggcccccttcacc	6	5	13	17	4	3	1	3	0	1	1	4	2	3	2	3	4	0	1	3	4	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:7725032G>A	ENST00000303635.7	+	9	2632	c.2425G>A	c.(2425-2427)Ggg>Agg	p.G809R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G809R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	809					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTCAGAGGACGGGGCGCGGGC	0.682			T	WWTR1	epitheliod hemangioendothelioma								66	199					0	0	0	0	A	7725032	G	A	7725032	3	1	341	1	0	0	0	0	1	0	0	0	2638	1116	39	1	2459	1	CAMTA1	1	7725032	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1529588	7725032	241525589	2	63883											
PRAMEF4	400735	broad.mit.edu	37	chr1	12943024	12943024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaggcctcagagggaggcgGcggaagggccaggactgcac	10	2	19	10	2	1	2	1	0	0	2	1	5	1	5	2	7	1	1	2	7	1	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:12943024G>A	ENST00000235349.5	-	2	262	c.192C>T	c.(190-192)cgC>cgT	p.R64R		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	64										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGAGGCGGCGGAAGGGCC	0.597													41	119					0	0	0	0	A	12943024	G	A	12943024	2	1	341	1	0	0	0	0	0	0	0	1	12516	1190	42	4		4	PRAMEF4	1	12943024	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	5217992	12943024	236307597	3	63884											
CROCC	9696	broad.mit.edu	37	chr1	17249221	17249221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgggacctggcccaggacGctcagatcaccagcctgcct	7	5	12	17	3	2	1	2	0	0	1	2	3	2	3	5	3	2	1	5	3	0	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:17249221G>T	ENST00000375541.5	+	2	193	c.124G>T	c.(124-126)Gct>Tct	p.A42S		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	42					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCCAGGACGCTCAGATCAC	0.647													24	76					6.21321e-17	8.65812e-17	1	0	T	17249221	G	T	17249221	3	4	341	1	0	0	0	0	1	0	0	0	3923	1087	38	3	130	3	CROCC	1	17249221	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	4306197	17249221	232001400	4	63885											
ALDH4A1	8659	broad.mit.edu	37	chr1	19209672	19209672	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcagtgaagttaaagggCgagatggccgccacgaagcc	12	6	14	9	3	0	2	0	1	0	1	0	4	0	2	3	2	2	2	3	2	4	2	rs142063145		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:19209672C>A	ENST00000375341.3	-	7	881	c.624G>T	c.(622-624)tcG>tcT	p.S208S	ALDH4A1_ENST00000538839.1_Silent_p.S208S|ALDH4A1_ENST00000538309.1_Silent_p.S148S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Silent_p.S208S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	208					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AGTTAAAGGGCGAGATGGCCG	0.667													22	73					5.26018e-13	6.87116e-13	1	0	A	19209672	C	A	19209672	2	1	341	1	0	0	0	0	0	0	0	1	501	755	27	3		3	ALDH4A1	1	19209672	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1960451	19209672	230040949	5	63886											
PLA2G2D	26279	broad.mit.edu	37	chr1	20440615	20440615	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtgggcttctagcaccCaggggtctgcccccggcagt	4	8	16	13	1	2	0	0	0	2	0	2	0	2	0	3	5	2	3	3	5	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:20440615C>G	ENST00000375105.3	-	4	488	c.430G>C	c.(430-432)Ggg>Cgg	p.G144R		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	144					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTAGCACCCAGGGGTCTGC	0.597										Multiple Myeloma(11;0.12)			10	36					0	0	0	0	G	20440615	C	G	20440615	3	3	341	1	0	0	0	0	1	0	0	0	12069	594	21	4	11	4	PLA2G2D	1	20440615	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1230943	20440615	228810006	6	63887											
ALPL	249	broad.mit.edu	37	chr1	21889728	21889728	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgttcccggtgcaacacCacccaggggaacgaggtcac	10	4	13	14	3	1	0	1	0	0	0	2	3	2	1	3	4	4	2	3	4	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:21889728C>A	ENST00000374840.3	+	5	673	c.423C>A	c.(421-423)acC>acA	p.T141T	ALPL_ENST00000425315.2_Silent_p.T141T|ALPL_ENST00000374832.1_Silent_p.T141T|ALPL_ENST00000540617.1_Silent_p.T86T|ALPL_ENST00000539907.1_Silent_p.T64T|ALPL_ENST00000468526.1_3'UTR	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	141					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GGTGCAACACCACCCAGGGGA	0.682													19	57					1.56452e-12	2.02994e-12	1	0	A	21889728	C	A	21889728	2	1	341	1	0	0	0	0	0	0	0	1	547	581	21	4		4	ALPL	1	21889728	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1449113	21889728	227360893	7	63888											
EPHB2	2048	broad.mit.edu	37	chr1	23234652	23234652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagaccccacctacacCagtgccctggtaagatggag	11	6	9	15	0	1	2	1	0	0	2	1	3	1	3	6	2	2	1	6	2	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:23234652C>T	ENST00000400191.3	+	12	2361	c.2343C>T	c.(2341-2343)acC>acT	p.T781T	EPHB2_ENST00000374632.3_Silent_p.T782T|EPHB2_ENST00000374630.3_Silent_p.T781T|EPHB2_ENST00000374627.1_Silent_p.T776T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	781	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCACCTACACCAGTGCCCTGG	0.567													4	64					0	0	0	0	T	23234652	C	T	23234652	2	4	341	1	0	0	0	0	0	0	0	1	5213	581	21	4		4	EPHB2	1	23234652	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1344924	23234652	226015969	8	63889											
LIN28A	79727	broad.mit.edu	37	chr1	26752798	26752798	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgccaccccagcccaagaAgtgccacttctgccagagca	10	5	9	17	0	1	2	0	0	1	2	1	2	1	2	6	0	5	2	6	0	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:26752798A>C	ENST00000326279.6	+	4	593	c.479A>C	c.(478-480)aAg>aCg	p.K160T	LIN28A_ENST00000254231.4_Missense_Mutation_p.K160T	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	160					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						CAGCCCAAGAAGTGCCACTTC	0.522													23	61					0	0	0	0	C	26752798	A	C	26752798	3	2	341	1	0	0	0	0	1	0	0	0	8860	72	3	5	493	5	LIN28A	1	26752798	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	3518146	26752798	222497823	9	63890											
SNRNP40	9410	broad.mit.edu	37	chr1	31740720	31740720	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccactaatccttacctGtcggctgagccagctgctat	8	10	8	15	1	0	1	0	1	0	0	2	1	1	1	4	1	4	4	4	1	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:31740720G>A	ENST00000263694.4	-	8	936	c.918C>T	c.(916-918)gaC>gaT	p.D306D	SNRNP40_ENST00000446633.2_Silent_p.D306D|SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000373720.3_Silent_p.D76D	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	306						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						ATCCTTACCTGTCGGCTGAGC	0.498													24	88					0	0	0	0	A	31740720	G	A	31740720	2	1	341	1	0	0	0	0	0	0	0	1	14944	1368	48	4		4	SNRNP40	1	31740720	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	4987922	31740720	217509901	10	63891											
KIAA1522	57648	broad.mit.edu	37	chr1	33236510	33236510	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacggtccccagaacggaCactttcgccctccagtggat	8	7	9	17	3	0	1	0	0	0	1	3	3	2	3	5	3	1	0	5	3	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:33236510C>G	ENST00000401073.2	+	6	1800	c.1730C>G	c.(1729-1731)aCa>aGa	p.T577R	KIAA1522_ENST00000373481.3_Missense_Mutation_p.T529R|KIAA1522_ENST00000373480.1_Missense_Mutation_p.T518R|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	518	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGAACGGACACTTTCGCCC	0.692													7	39					0	0	0	0	G	33236510	C	G	33236510	3	3	341	1	0	0	0	0	1	0	0	0	8289	478	17	4	1752	4	KIAA1522	1	33236510	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1495790	33236510	216014111	11	63892											
CSF3R	1441	broad.mit.edu	37	chr1	36931963	36931963	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaccccaggaagccctagaAgctccccagcgcctccatcc	10	4	8	19	1	0	1	0	0	0	1	3	3	3	2	8	1	4	1	8	1	4	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:36931963A>G	ENST00000373103.1	-	17	3134	c.2587T>C	c.(2587-2589)Ttc>Ctc	p.F863L	CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000440588.2_Missense_Mutation_p.F863L|CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000361632.4_Missense_Mutation_p.F836L|CSF3R_ENST00000338937.5_3'UTR|CSF3R_ENST00000418048.2_Missense_Mutation_p.F836L|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000373106.1_Missense_Mutation_p.F836L	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	836					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AAGCCCTAGAAGCTCCCCAGC	0.607													9	22					0	0	0	0	G	36931963	A	G	36931963	3	3	341	1	0	0	0	0	1	0	0	0	3969	72	3	5	117	5	CSF3R	1	36931963	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	3695453	36931963	212318658	12	63893											
MTF1	4520	broad.mit.edu	37	chr1	38281095	38281095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcctgggggctcggctctgGagggggtggggaggagcagc	5	5	23	8	1	1	0	0	0	1	0	2	3	1	3	1	9	3	3	1	9	0	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:38281095G>A	ENST00000373036.4	-	11	2115	c.1975C>T	c.(1975-1977)Cca>Tca	p.P659S		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	659						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCGGCTCTGGAGGGGGTGGG	0.622													14	48					0	0	0	0	A	38281095	G	A	38281095	3	1	341	1	0	0	0	0	1	0	0	0	9992	1174	41	2	290	2	MTF1	1	38281095	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1349132	38281095	210969526	13	63894											
HIVEP3	59269	broad.mit.edu	37	chr1	41990557	41990557	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggccgcggcctcgcacataTacatactcttcgtttgattt	7	13	8	13	5	1	1	0	1	1	0	3	1	1	1	2	2	2	2	2	2	3	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:41990557T>C	ENST00000372584.1	-	5	6246	c.5232A>G	c.(5230-5232)gtA>gtG	p.V1744V	HIVEP3_ENST00000429157.2_Silent_p.V1744V|HIVEP3_ENST00000372583.1_Silent_p.V1744V|HIVEP3_ENST00000247584.5_Silent_p.V1744V|HIVEP3_ENST00000460604.1_Intron	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1744					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)				CTCGCACATATACATACTCTT	0.507													13	60					0	0	0	0	C	41990557	T	C	41990557	2	2	341	1	0	0	0	0	0	0	0	1	7238	1393	49	5		5	HIVEP3	1	41990557	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	3709462	41990557	207260064	14	63895											
EPS15	2060	broad.mit.edu	37	chr1	51926824	51926824	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcactcaactcccaaaccTtaaaaagagaataattgaaa	20	9	3	9	0	2	2	2	1	0	1	3	3	3	2	2	0	2	0	2	0	9	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:51926824T>A	ENST00000371733.3	-	8	598		c.e8-2		EPS15_ENST00000371730.2_Splice_Site	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15						cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTCCCAAACCTTAAAAAGAGA	0.343			T	MLL	ALL								19	63					0	0	0	0	A	51926824	T	A	51926824	5	1	341	1	0	0	0	0	0	0	1	0	5230	1623	56	5	2360	5	EPS15	1	51926824	Splice_Site	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	9936267	51926824	197323797	15	63896											
C8B	732	broad.mit.edu	37	chr1	57411576	57411576	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcctctgtgatgtagtgggtCccaaaatcacggaagagatc	11	9	12	9	1	2	2	1	1	1	1	4	4	3	3	2	2	0	1	2	2	4	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:57411576C>G	ENST00000543257.1	-	8	1433	c.867G>C	c.(865-867)ggG>ggC	p.G289G	C8B_ENST00000371237.4_Silent_p.G341G|C8B_ENST00000535057.1_Silent_p.G279G	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	341	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTAGTGGGTCCCAAAATCAC	0.517													22	66					0	0	0	0	G	57411576	C	G	57411576	2	3	341	1	0	0	0	0	0	0	0	1	2440	842	30	2		2	C8B	1	57411576	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	5484752	57411576	191839045	16	63897											
C8B	732	broad.mit.edu	37	chr1	57422559	57422559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccccatggaactgagaggGctggagcaagtaggcatacc	11	7	13	10	0	0	1	0	1	0	1	1	4	1	3	3	4	3	4	3	4	4	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:57422559G>A	ENST00000543257.1	-	4	684	c.118C>T	c.(118-120)Ccc>Tcc	p.P40S	C8B_ENST00000371237.4_Missense_Mutation_p.P92S|C8B_ENST00000535057.1_Missense_Mutation_p.P30S	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	92					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.P92S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AACTGAGAGGGCTGGAGCAAG	0.507													55	176					0	0	0	0	A	57422559	G	A	57422559	3	1	341	1	0	0	0	0	1	0	0	0	2440	1203	42	4	1541	4	C8B	1	57422559	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	10983	57422559	191828062	17	63898											
PGM1	5236	broad.mit.edu	37	chr1	64117371	64117371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaggtggaagctgagggcGcaaacaaaatgatgaaggac	16	4	16	5	1	0	3	0	3	0	0	0	6	0	6	0	5	2	2	0	5	5	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:64117371G>A	ENST00000371083.4	+	9	1734	c.1366G>A	c.(1366-1368)Gca>Aca	p.A456T	PGM1_ENST00000540265.1_Missense_Mutation_p.A241T|PGM1_ENST00000483707.1_3'UTR|PGM1_ENST00000371084.3_Missense_Mutation_p.A438T	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	438					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCTGAGGGCGCAAACAAAAT	0.512													14	37					0	0	0	0	A	64117371	G	A	64117371	3	1	341	1	0	0	0	0	1	0	0	0	11869	1087	38	1	1650	1	PGM1	1	64117371	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	6694812	64117371	185133250	18	63899											
ROR1	4919	broad.mit.edu	37	chr1	64643490	64643490	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaatccagcctggaccAcggagattttctgcacattg	10	11	10	10	1	1	2	0	1	1	1	2	4	2	3	3	2	2	1	3	2	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:64643490A>T	ENST00000371079.1	+	9	2141	c.1766A>T	c.(1765-1767)cAc>cTc	p.H589L	ROR1_ENST00000545203.1_Missense_Mutation_p.H40L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	589	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AGCCTGGACCACGGAGATTTT	0.478													20	75					0	0	0	0	T	64643490	A	T	64643490	3	4	341	1	0	0	0	0	1	0	0	0	13611	159	6	5	1808	5	ROR1	1	64643490	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	526119	64643490	184607131	19	63900											
DNAJC6	9829	broad.mit.edu	37	chr1	65858302	65858302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcccctccaccccctgagGatgtggaccttttgggcctg	5	9	11	16	0	0	1	0	1	0	0	1	3	1	3	7	3	1	0	7	3	0	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:65858302G>T	ENST00000395325.3	+	12	1643	c.1486G>T	c.(1486-1488)Gat>Tat	p.D496Y	DNAJC6_ENST00000371069.4_Missense_Mutation_p.D553Y|DNAJC6_ENST00000263441.7_Missense_Mutation_p.D483Y	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	496	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ACCCCCTGAGGATGTGGACCT	0.562													13	39					0.00010058	0.000108903	1	0	T	65858302	G	T	65858302	3	4	341	1	0	0	0	0	1	0	0	0	4689	1174	41	2	1532	2	DNAJC6	1	65858302	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1214812	65858302	183392319	20	63901											
WLS	79971	broad.mit.edu	37	chr1	68564316	68564316	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgtgttgccttgttgactCaaataccagaagctgcgttg	9	13	10	9	1	1	2	1	1	0	1	1	2	1	2	2	0	4	4	2	0	3	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:68564316C>T	ENST00000540432.1	-	12	1920	c.1637G>A	c.(1636-1638)tGa>tAa	p.*546*	WLS_ENST00000354777.2_Silent_p.*544*|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	0					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						cttgttgactcaaataccaga	0.388													27	95					0	0	0	0	T	68564316	C	T	68564316	2	4	341	1	0	0	0	0	0	0	0	1	17472	837	29	2		2	WLS	1	68564316	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2706014	68564316	180686305	21	63902											
PTGER3	5733	broad.mit.edu	37	chr1	71512620	71512620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctagtcccgttgccccctCgcccggtgctgatgaagcac	6	8	11	16	3	0	2	0	2	0	0	2	2	1	2	4	1	4	4	4	1	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:71512620C>A	ENST00000370924.4	-	1	871	c.641G>T	c.(640-642)cGa>cTa	p.R214L	PTGER3_ENST00000351052.5_Missense_Mutation_p.R214L|PTGER3_ENST00000306666.5_Missense_Mutation_p.R214L|PTGER3_ENST00000414819.1_Missense_Mutation_p.R214L|PTGER3_ENST00000370932.2_Missense_Mutation_p.R214L|PTGER3_ENST00000354608.5_Missense_Mutation_p.R214L|PTGER3_ENST00000370931.3_Missense_Mutation_p.R214L|PTGER3_ENST00000460330.1_Missense_Mutation_p.R214L|PTGER3_ENST00000356595.4_Missense_Mutation_p.R214L	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	214					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GTTGCCCCCTCGCCCGGTGCT	0.652													21	85					2.89027e-11	3.66988e-11	1	0	A	71512620	C	A	71512620	3	1	341	1	0	0	0	0	1	0	0	0	12824	884	31	3	850	3	PTGER3	1	71512620	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2948304	71512620	177738001	22	63903											
MSH4	4438	broad.mit.edu	37	chr1	76363684	76363684	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcattttgaagttcaacaTgtaaagaatacctcaagaaa	18	11	6	6	0	2	3	2	1	0	2	2	3	2	3	1	0	3	3	1	0	8	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:76363684T>C	ENST00000263187.3	+	18	2552	c.2448T>C	c.(2446-2448)caT>caC	p.H816H		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	816					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AAGTTCAACATGTAAAGAATA	0.333								Mismatch excision repair (MMR)					36	112					0	0	0	0	C	76363684	T	C	76363684	2	2	341	1	0	0	0	0	0	0	0	1	9942	1461	51	5		5	MSH4	1	76363684	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	4851064	76363684	172886937	23	63904											
HFM1	164045	broad.mit.edu	37	chr1	91728095	91728095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaggatgcactgaacttGggcatagcagaatttgataa	14	10	12	5	0	0	3	0	2	0	1	0	5	0	5	0	3	3	3	0	3	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:91728095G>A	ENST00000294696.5	-	36	4036	c.1634C>T	c.(1633-1635)cCa>cTa	p.P545L	HFM1_ENST00000370424.3_Silent_p.P1022P|HFM1_ENST00000370425.3_Silent_p.P1343P|HFM1_ENST00000462405.1_5'UTR			A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	0	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CACTGAACTTGGGCATAGCAG	0.318													25	125					0	0	0	0	A	91728095	G	A	91728095	3	1	341	1	0	0	0	0	1	0	0	0	7133	1335	47	4	290	4	HFM1	1	91728095	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	15364411	91728095	157522526	24	63905											
HFM1	164045	broad.mit.edu	37	chr1	91818635	91818635	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtaaatctccaacagtaaAagctccctcaactacttttc	13	12	4	12	0	2	0	1	0	1	0	5	0	3	0	2	1	4	3	2	1	7	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:91818635A>G	ENST00000370425.3	-	15	1902	c.1804T>C	c.(1804-1806)Ttt>Ctt	p.F602L	HFM1_ENST00000370424.3_Missense_Mutation_p.F281L|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	602	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCAACAGTAAAAGCTCCCTCA	0.308													25	68					0	0	0	0	G	91818635	A	G	91818635	3	3	341	1	0	0	0	0	1	0	0	0	7133	14	1	5	2603	5	HFM1	1	91818635	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	90540	91818635	157431986	25	63906											
DPYD	1806	broad.mit.edu	37	chr1	97771826	97771826	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagcttgcctaacccagcGgcagatgttccgcaccagct	10	7	9	15	2	0	1	0	0	0	1	1	1	1	1	4	1	6	5	4	1	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:97771826G>C	ENST00000370192.3	-	17	2186	c.2086C>G	c.(2086-2088)Cgc>Ggc	p.R696G	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	696					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTAACCCAGCGGCAGATGTTC	0.428													70	199					0	0	0	0	C	97771826	G	C	97771826	3	2	341	1	0	0	0	0	1	0	0	0	4781	1116	39	3	1019	3	DPYD	1	97771826	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	5953191	97771826	151478795	26	63907											
COL11A1	1301	broad.mit.edu	37	chr1	103471417	103471417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacctttgtcacctggcaGacccggaagtccatcaaacc	10	8	9	14	1	2	2	2	1	0	1	3	3	3	3	5	2	1	1	5	2	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:103471417G>T	ENST00000358392.2	-	18	2175	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	COL11A1_ENST00000353414.4_Missense_Mutation_p.L569M|COL11A1_ENST00000512756.1_Missense_Mutation_p.L492M|COL11A1_ENST00000370096.3_Missense_Mutation_p.L608M|COL11A1_ENST00000461720.1_5'UTR	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	608	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCACCTGGCAGACCCGGAAGT	0.368													28	144					5.77227e-19	8.26752e-19	1	0	T	103471417	G	T	103471417	3	4	341	1	0	0	0	0	1	0	0	0	3697	933	33	2	3798	2	COL11A1	1	103471417	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	5699591	103471417	145779204	27	63908											
TCHH	7062	broad.mit.edu	37	chr1	152082049	152082049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcgctgatcctcatccCggtatcgctgcttccttttc	4	14	7	16	3	1	1	1	1	0	0	6	1	4	1	3	1	2	4	3	1	1	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:152082049C>T	ENST00000368804.1	-	2	3643	c.3644G>A	c.(3643-3645)cGg>cAg	p.R1215Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1215					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCTCATCCCGGTATCGCTG	0.517													26	121					0	0	0	0	T	152082049	C	T	152082049	3	4	341	1	0	0	0	0	1	0	0	0	15794	652	23	1	2191	1	TCHH	1	152082049	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	48610632	152082049	97168572	28	63909											
LCE5A	254910	broad.mit.edu	37	chr1	152484057	152484057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgccagcctcctcccaaatGtacccctaaatgccctccca	9	8	5	19	0	0	0	0	0	0	0	3	0	3	0	8	0	4	1	8	0	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:152484057G>A	ENST00000334269.2	+	2	223	c.47G>A	c.(46-48)tGt>tAt	p.C16Y		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	16	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCCAAATGTACCCCTAAA	0.542													33	71					0	0	0	0	A	152484057	G	A	152484057	3	1	341	1	0	0	0	0	1	0	0	0	8728	1377	48	4	49	4	LCE5A	1	152484057	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	402008	152484057	96766564	29	63910											
LCE1C	353133	broad.mit.edu	37	chr1	152777710	152777710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcagtgggacctacggCgcctgtggtggctcaggcag	5	8	18	10	2	1	0	1	0	0	0	1	1	1	1	2	6	1	3	2	6	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:152777710C>T	ENST00000368768.1	-	2	295	c.245G>A	c.(244-246)cGc>cAc	p.R82H	LCE1C_ENST00000607093.1_Missense_Mutation_p.R82H	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	82	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGACCTACGGCGCCTGTGGTG	0.701													20	106					0	0	0	0	T	152777710	C	T	152777710	3	4	341	1	0	0	0	0	1	0	0	0	8714	768	27	1	115	1	LCE1C	1	152777710	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	293653	152777710	96472911	30	63911											
SPRR1B	6699	broad.mit.edu	37	chr1	153004998	153004998	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccgagccctgccagccCaaggttccagagccatgcca	8	5	11	17	1	0	1	0	0	0	1	1	2	1	1	7	1	6	1	7	1	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:153004998C>A	ENST00000307098.4	+	2	242	c.177C>A	c.(175-177)ccC>ccA	p.P59P	SPRR1B_ENST00000392661.3_Intron	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	59	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGCCAGCCCAAGGTTCCAG	0.617													34	195					4.11147e-13	5.38889e-13	1	0	A	153004998	C	A	153004998	2	1	341	1	0	0	0	0	0	0	0	1	15186	581	21	4		4	SPRR1B	1	153004998	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	227288	153004998	96245623	31	63912											
LOR	4014	broad.mit.edu	37	chr1	153233515	153233515	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtggcggcggcagcggCggtggtggctgcggcttctt	1	8	22	10	6	1	0	0	0	1	0	1	0	1	0	0	10	2	3	0	10	0	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:153233515C>T	ENST00000368742.3	+	2	147	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	30					keratinization|peptide cross-linking	cornified envelope|cytoplasm|insoluble fraction|nucleoplasm	protein binding, bridging|structural constituent of cytoskeleton			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcggcagcggcggtggtggct	0.697													3	31					0	0	0	0	T	153233515	C	T	153233515	2	4	341	1	0	0	0	0	0	0	0	1	8961	755	27	1		1	LOR	1	153233515	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	228517	153233515	96017106	32	63913											
AQP10	89872	broad.mit.edu	37	chr1	154296125	154296125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctggacagacggaacaagGgagtccctgcgggtctggag	9	6	16	10	2	1	1	0	0	1	1	3	5	3	5	2	5	2	0	2	5	2	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:154296125G>A	ENST00000484864.1	+	5	586	c.550G>A	c.(550-552)Gga>Aga	p.G184R	AQP10_ENST00000324978.3_Missense_Mutation_p.G184R|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	184					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACGGAACAAGGGAGTCCCTGC	0.622													90	182					0	0	0	0	A	154296125	G	A	154296125	3	1	341	1	0	0	0	0	1	0	0	0	824	1233	43	4	568	4	AQP10	1	154296125	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1062610	154296125	94954496	33	63914											
SPTA1	6708	broad.mit.edu	37	chr1	158650415	158650415	+	Silent	SNP	C	C	A																															tggttcacttcaacaactctCccttctttagctaccagctc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:158650415C>A	ENST00000368148.3	-	5	816	c.636G>T	c.(634-636)ggG>ggT	p.G212G	SPTA1_ENST00000368147.3_Silent_p.G212G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	212					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAACAACTCTCCCTTCTTTAG	0.458													48	130					4.01344e-20	5.8022e-20	1	0	A	158650415	C	A	158650415	2	1	341	1	0	0	0	0	0	0	0	1	15206	842	30	2		2	SPTA1	1	158650415	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	4354290	158650415	90600206	34	63915	766	2									
SPTA1	6708	broad.mit.edu	37	chr1	158650416	158650416	+	Missense_Mutation	SNP	C	C	A																															ggttcacttcaacaactctcCcttctttagctaccagctcc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:158650416C>A	ENST00000368148.3	-	5	815	c.635G>T	c.(634-636)gGg>gTg	p.G212V	SPTA1_ENST00000368147.3_Missense_Mutation_p.G212V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	212					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.G212V(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AACAACTCTCCCTTCTTTAGC	0.463													48	130					2.24722e-20	3.261e-20	1	0	A	158650416	C	A	158650416	3	1	341	1	0	0	0	0	1	0	0	0	15206	623	22	4	6816	4	SPTA1	1	158650416	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1	158650416	90600205	35	63916	766	2									
AIM2	9447	broad.mit.edu	37	chr1	159043310	159043310	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaactttgggatcagcCtataaggaatccaaaacatg	15	9	8	9	0	1	1	1	1	0	0	2	3	2	3	2	2	3	0	2	2	6	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:159043310C>G	ENST00000368130.4	-	2	269		c.e2-1			NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2						cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TGGGATCAGCCTATAAGGAAT	0.338													32	163					0	0	0	0	G	159043310	C	G	159043310	5	3	341	1	0	0	0	0	0	0	1	0	432	695	24	4		4	AIM2	1	159043310	Splice_Site	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	392894	159043310	90207311	36	63917											
SLAMF6	114836	broad.mit.edu	37	chr1	160466127	160466127	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggggaagagttactgactCccccagaatcccgttcacca	11	7	9	14	1	1	3	1	1	0	2	3	4	3	4	4	2	1	2	4	2	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:160466127C>A	ENST00000368059.3	-	2	175	c.106G>T	c.(106-108)Gag>Tag	p.E36*	SLAMF6_ENST00000368057.3_Nonsense_Mutation_p.E36*|SLAMF6_ENST00000368055.1_Intron	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	36						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GTTACTGACTCCCCCAGAATC	0.443													53	319					2.84144e-21	4.17032e-21	1	0	A	160466127	C	A	160466127	4	1	341	1	0	0	0	0	0	1	0	0	14456	864	30	2	920	2	SLAMF6	1	160466127	Nonsense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1422817	160466127	88784494	37	63918											
PVRL4	81607	broad.mit.edu	37	chr1	161044038	161044038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctgctgggccttgcgccGatggtatcgggacatgagca	7	9	14	11	3	1	1	0	1	1	0	2	3	1	2	2	3	3	3	2	3	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:161044038G>A	ENST00000368012.3	-	6	1428	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Missense_Mutation_p.R110W	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	376					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		p.R376R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCCTTGCGCCGATGGTATCGG	0.577													12	74					0	0	0	0	A	161044038	G	A	161044038	3	1	341	1	0	0	0	0	1	0	0	0	12924	1057	37	1	422	1	PVRL4	1	161044038	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	577911	161044038	88206583	38	63919											
DDR2	4921	broad.mit.edu	37	chr1	162724444	162724444	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagaaggggatggagcctgGtgccctgagattccagtgga	10	7	17	7	0	0	2	0	1	0	2	1	7	1	5	3	5	2	0	3	5	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:162724444G>C	ENST00000367922.2	+	6	654	c.216G>C	c.(214-216)tgG>tgC	p.W72C	DDR2_ENST00000367921.3_Missense_Mutation_p.W72C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	72	F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ATGGAGCCTGGTGCCCTGAGA	0.557													18	96					0	0	0	0	C	162724444	G	C	162724444	3	2	341	1	0	0	0	0	1	0	0	0	4369	1270	44	4	226	4	DDR2	1	162724444	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1680406	162724444	86526177	39	63920											
ALDH9A1	223	broad.mit.edu	37	chr1	165667715	165667715	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgacacgacgaaggtgccAgtgctcatggcggcgacagg	9	5	16	11	5	1	0	1	0	0	0	1	4	1	0	1	4	3	1	1	4	1	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:165667715A>G	ENST00000354775.4	-	1	385	c.81T>C	c.(79-81)acT>acC	p.T27T	ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	3					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	CGAAGGTGCCAGTGCTCATGG	0.687													11	61					0	0	0	0	G	165667715	A	G	165667715	2	3	341	1	0	0	0	0	0	0	0	1	506	175	7	5		5	ALDH9A1	1	165667715	Silent	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	2943271	165667715	83582906	40	63921											
TNN	63923	broad.mit.edu	37	chr1	175048699	175048699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggacacggcgagtgcgtgCgcggcgtgtgccagtgccac	5	5	18	13	7	0	0	0	0	0	0	0	2	0	1	2	3	4	0	2	3	0	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:175048699C>A	ENST00000239462.4	+	3	753	c.640C>A	c.(640-642)Cgc>Agc	p.R214S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	214	EGF-like 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGAGTGCGTGCGCGGCGTGTG	0.687													7	15					0.00198382	0.00206403	1	0	A	175048699	C	A	175048699	3	1	341	1	0	0	0	0	1	0	0	0	16417	768	27	3	646	3	TNN	1	175048699	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	9380984	175048699	74201922	41	63922											
PAPPA2	60676	broad.mit.edu	37	chr1	176809324	176809324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagcccttccaagcagatGgttggtgtgacactatcaac	11	10	9	11	0	1	2	1	1	0	1	2	2	2	2	2	2	4	2	2	2	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:176809324G>A	ENST00000367662.3	+	22	6382	c.5218G>A	c.(5218-5220)Ggt>Agt	p.G1740S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1740					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAAGCAGATGGTTGGTGTGA	0.512													38	164					0	0	0	0	A	176809324	G	A	176809324	3	1	341	1	0	0	0	0	1	0	0	0	11504	1348	47	4	5353	4	PAPPA2	1	176809324	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1760625	176809324	72441297	42	63923											
CACNA1E	777	broad.mit.edu	37	chr1	181702879	181702879	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttggtggactcaaccgtGgtgcacagtgagagcacagt	9	8	13	11	1	1	1	1	1	0	1	1	3	1	2	2	3	3	2	2	3	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:181702879G>T	ENST00000526775.1	+	20	3363	c.3198G>T	c.(3196-3198)gtG>gtT	p.V1066V	CACNA1E_ENST00000367573.2_Silent_p.V1085V|CACNA1E_ENST00000367567.4_Silent_p.V692V|CACNA1E_ENST00000360108.3_Silent_p.V1066V|CACNA1E_ENST00000357570.5_Silent_p.V1036V|CACNA1E_ENST00000367570.1_Silent_p.V1085V|CACNA1E_ENST00000358338.5_Silent_p.V1017V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1085					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTCAACCGTGGTGCACAGTG	0.617													17	21					4.7546e-09	5.75322e-09	1	0	T	181702879	G	T	181702879	2	4	341	1	0	0	0	0	0	0	0	1	2567	1335	47	4		4	CACNA1E	1	181702879	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	4893555	181702879	67547742	43	63924											
CACNA1E	777	broad.mit.edu	37	chr1	181767620	181767620	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctccccgctgacctccCaagctctggagagcaacaat	10	6	10	15	1	1	2	0	1	1	1	3	3	3	2	4	2	3	4	4	2	3	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:181767620C>T	ENST00000526775.1	+	46	6571	c.6406C>T	c.(6406-6408)Caa>Taa	p.Q2136*	CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.Q2198*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.Q1762*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.Q2179*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.Q2149*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.Q2155*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.Q2087*	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2198					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTGACCTCCCAAGCTCTGGA	0.627													30	86					0	0	0	0	T	181767620	C	T	181767620	4	4	341	1	0	0	0	0	0	1	0	0	2567	595	21	4	6649	4	CACNA1E	1	181767620	Nonsense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	64741	181767620	67483001	44	63925											
CACNA1E	777	broad.mit.edu	37	chr1	181767889	181767889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcactatcggcggcggagGcgcggggggcctgggccagg	4	3	23	11	5	0	0	0	0	0	0	1	1	0	1	2	10	0	1	2	10	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:181767889G>T	ENST00000526775.1	+	46	6840	c.6675G>T	c.(6673-6675)agG>agT	p.R2225S	CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2287S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1851S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2268S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2238S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2244S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R2176S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2287					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCGGCGGAGGCGCGGGGGGC	0.647													8	12					1.12685e-05	1.25894e-05	1	0	T	181767889	G	T	181767889	3	4	341	1	0	0	0	0	1	0	0	0	2567	1194	42	4	6918	4	CACNA1E	1	181767889	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	269	181767889	67482732	45	63926											
CFHR4	10877	broad.mit.edu	37	chr1	196876140	196876140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatagtgtgtggtgaagatGgctggtcccatttgccaaca	9	11	12	9	0	0	2	0	1	0	1	1	2	1	2	3	3	2	1	3	3	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:196876140G>T	ENST00000367416.2	+	4	723	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TGGTGAAGATGGCTGGTCCCA	0.343													13	47					4.3838e-07	5.05119e-07	1	0	T	196876140	G	T	196876140	3	4	341	1	0	0	0	0	1	0	0	0	3316	1363	47	4		4	CFHR4	1	196876140	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	15108251	196876140	52374481	46	63927											
KIF21B	23046	broad.mit.edu	37	chr1	200971388	200971388	+	Missense_Mutation	SNP	G	G	A																															catggctttcacccgcagccGcagggccccattctccttct																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:200971388G>A	ENST00000332129.2	-	9	1619	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	KIF21B_ENST00000422435.2_Missense_Mutation_p.R435W|KIF21B_ENST00000461742.2_Missense_Mutation_p.R435W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R435W	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	435					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACCCGCAGCCGCAGGGCCCCA	0.607													27	113					0	0	0	0	A	200971388	G	A	200971388	3	1	341	1	0	0	0	0	1	0	0	0	8340	1086	38	1	3675	1	KIF21B	1	200971388	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	4095248	200971388	48279233	47	63928	767	2									
KIF21B	23046	broad.mit.edu	37	chr1	200971389	200971389	+	Silent	SNP	C	C	T																															atggctttcacccgcagccgCagggccccattctccttctg																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:200971389C>T	ENST00000332129.2	-	9	1618	c.1302G>A	c.(1300-1302)ctG>ctA	p.L434L	KIF21B_ENST00000422435.2_Silent_p.L434L|KIF21B_ENST00000461742.2_Silent_p.L434L|KIF21B_ENST00000360529.5_Silent_p.L434L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	434					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCCGCAGCCGCAGGGCCCCAT	0.607													26	117					0	0	0	0	T	200971389	C	T	200971389	2	4	341	1	0	0	0	0	0	0	0	1	8340	697	25	4		4	KIF21B	1	200971389	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1	200971389	48279232	48	63929	767	2									
LGR6	59352	broad.mit.edu	37	chr1	202287103	202287103	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaagccctgtgagtacCtctttgaaagctggggcatc	8	11	10	12	0	2	2	1	2	1	0	3	2	2	2	3	2	3	3	3	2	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:202287103C>G	ENST00000367278.3	+	18	1761	c.1672C>G	c.(1672-1674)Ctc>Gtc	p.L558V	LGR6_ENST00000439764.2_Missense_Mutation_p.L419V|LGR6_ENST00000255432.7_Missense_Mutation_p.L506V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	558						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CTGTGAGTACCTCTTTGAAAG	0.607													34	70					0	0	0	0	G	202287103	C	G	202287103	3	3	341	1	0	0	0	0	1	0	0	0	8812	681	24	4	1889	4	LGR6	1	202287103	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1315714	202287103	46963518	49	63930			1	98		5	5	795	C		3.056912e-09
LGR6	59352	broad.mit.edu	37	chr1	202287123	202287123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctctttgaaagctggggcatCcgcctggccgtgtgggccat	5	10	14	12	2	1	1	0	1	1	0	2	1	2	1	4	4	1	2	4	4	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:202287123C>T	ENST00000367278.3	+	18	1781	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	LGR6_ENST00000439764.2_Silent_p.I425I|LGR6_ENST00000255432.7_Silent_p.I512I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	564						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCTGGGGCATCCGCCTGGCCG	0.622													38	82					0	0	0	0	T	202287123	C	T	202287123	2	4	341	1	0	0	0	0	0	0	0	1	8812	845	30	2		2	LGR6	1	202287123	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	20	202287123	46963498	50	63931			1	98		5	5	795	C		3.056912e-09
LGR6	59352	broad.mit.edu	37	chr1	202287687	202287687	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcgtggccggtgcctacatCaaactgtactgtgacctgcc	7	10	11	13	2	1	1	1	1	0	0	2	1	1	1	4	2	5	1	4	2	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:202287687C>T	ENST00000367278.3	+	18	2345	c.2256C>T	c.(2254-2256)atC>atT	p.I752I	LGR6_ENST00000439764.2_Silent_p.I613I|LGR6_ENST00000255432.7_Silent_p.I700I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	752						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTGCCTACATCAAACTGTACT	0.637													25	58					0	0	0	0	T	202287687	C	T	202287687	2	4	341	1	0	0	0	0	0	0	0	1	8812	816	29	2		2	LGR6	1	202287687	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	564	202287687	46962934	51	63932			1	98		5	5	795	C		3.056912e-09
LGR6	59352	broad.mit.edu	37	chr1	202287818	202287818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccttcctcagctttgcctCcatgctgggcctcttccctg	2	13	9	17	0	2	0	1	0	1	0	5	0	5	0	6	2	3	2	6	2	0	3	rs145765655		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:202287818C>T	ENST00000367278.3	+	18	2476	c.2387C>T	c.(2386-2388)tCc>tTc	p.S796F	LGR6_ENST00000439764.2_Missense_Mutation_p.S657F|LGR6_ENST00000255432.7_Missense_Mutation_p.S744F	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	796						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AGCTTTGCCTCCATGCTGGGC	0.647													48	119					0	0	0	0	T	202287818	C	T	202287818	3	4	341	1	0	0	0	0	1	0	0	0	8812	855	30	2	2604	2	LGR6	1	202287818	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	131	202287818	46962803	52	63933			1	98		5	5	795	C		3.056912e-09
LGR6	59352	broad.mit.edu	37	chr1	202287897	202287897	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcccctgcctgcctgcctCaacccactgctgtacctgct	4	10	7	20	0	1	0	1	0	0	0	1	0	1	0	7	0	8	3	7	0	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:202287897C>G	ENST00000367278.3	+	18	2555	c.2466C>G	c.(2464-2466)ctC>ctG	p.L822L	LGR6_ENST00000439764.2_Silent_p.L683L|LGR6_ENST00000255432.7_Silent_p.L770L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	822						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CTGCCTGCCTCAACCCACTGC	0.667													70	149					0	0	0	0	G	202287897	C	G	202287897	2	3	341	1	0	0	0	0	0	0	0	1	8812	813	29	2		2	LGR6	1	202287897	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	79	202287897	46962724	53	63934			1	98		5	5	795	C		3.056912e-09
NFASC	23114	broad.mit.edu	37	chr1	204966434	204966434	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctaccaccatcgccacCaccaccaccgtcgccacaac	11	3	4	23	3	0	0	0	0	0	0	2	0	0	0	9	0	2	1	9	0	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:204966434C>A	ENST00000367172.4	+	27	3568	c.3240C>A	c.(3238-3240)acC>acA	p.T1080T	NFASC_ENST00000339876.6_Silent_p.T973T|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000401399.1_Silent_p.T973T|NFASC_ENST00000367171.4_Silent_p.T1065T|NFASC_ENST00000338515.6_Silent_p.T1080T|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000404907.1_Intron			O94856	NFASC_HUMAN	neurofascin	1080	Thr-rich.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ccatcgccaccaccaccaccg	0.612													10	17					6.40141e-05	6.98007e-05	1	0	A	204966434	C	A	204966434	2	1	341	1	0	0	0	0	0	0	0	1	10429	581	21	4		4	NFASC	1	204966434	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2678537	204966434	44284187	54	63935											
CR2	1380	broad.mit.edu	37	chr1	207653360	207653360	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacttcttaccttcttgatTgtcattaccttatacgtgat	9	19	4	9	1	3	2	1	2	2	0	3	2	3	2	2	0	4	0	2	0	5	9			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:207653360T>A	ENST00000367057.3	+	18	3339	c.3150T>A	c.(3148-3150)atT>atA	p.I1050I	CR2_ENST00000367058.3_Silent_p.I991I|CR2_ENST00000367059.3_Silent_p.I929I|CR2_ENST00000458541.2_Silent_p.I964I	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	991					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCTTCTTGATTGTCATTACCT	0.403													31	57					0	0	0	0	A	207653360	T	A	207653360	2	1	341	1	0	0	0	0	0	0	0	1	3872	1800	63	5		5	CR2	1	207653360	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	2686926	207653360	41597261	55	63936											
USH2A	7399	broad.mit.edu	37	chr1	215848242	215848242	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggtggagcatcctccactCgtgcaggcttggagtgcata	7	10	13	11	1	0	0	0	0	0	0	3	2	2	2	2	4	3	4	2	4	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:215848242C>G	ENST00000366943.2	-	63	13397	c.13011G>C	c.(13009-13011)acG>acC	p.T4337T	USH2A_ENST00000307340.3_Silent_p.T4337T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4337	Fibronectin type-III 28.		T -> M (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCCTCCACTCGTGCAGGCTT	0.498										HNSCC(13;0.011)			34	106					0	0	0	0	G	215848242	C	G	215848242	2	3	341	1	0	0	0	0	0	0	0	1	17132	871	31	3		3	USH2A	1	215848242	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	8194882	215848242	33402379	56	63937											
USH2A	7399	broad.mit.edu	37	chr1	215914857	215914857	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaggtgttttgacaaacatCctactgctaactccacaact	12	12	5	12	0	1	1	1	1	0	0	3	1	3	1	2	1	5	2	2	1	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:215914857C>T	ENST00000366943.2	-	60	11957	c.11571G>A	c.(11569-11571)agG>agA	p.R3857R	USH2A_ENST00000307340.3_Silent_p.R3857R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3857	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGACAAACATCCTACTGCTAA	0.388										HNSCC(13;0.011)			23	144					0	0	0	0	T	215914857	C	T	215914857	2	4	341	1	0	0	0	0	0	0	0	1	17132	854	30	2		2	USH2A	1	215914857	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	66615	215914857	33335764	57	63938											
USH2A	7399	broad.mit.edu	37	chr1	216372990	216372990	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttagttccgctggtggagAccattctacatgaagttctg	9	14	10	8	1	2	2	0	1	2	1	3	3	3	2	2	2	1	3	2	2	3	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:216372990A>T	ENST00000366943.2	-	17	4176	c.3790T>A	c.(3790-3792)Tct>Act	p.S1264T	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.S1264T|USH2A_ENST00000307340.3_Missense_Mutation_p.S1264T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1264	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGGTGGAGACCATTCTACA	0.438										HNSCC(13;0.011)			39	92					0	0	0	0	T	216372990	A	T	216372990	3	4	341	1	0	0	0	0	1	0	0	0	17132	275	10	5	12056	5	USH2A	1	216372990	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	458133	216372990	32877631	58	63939											
GPATCH2	55105	broad.mit.edu	37	chr1	217783730	217783730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatgaaggcgactgagtCtagcttggaaacctgtaaaa	13	10	10	8	1	1	2	0	2	1	0	2	4	2	3	2	2	2	2	2	2	5	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:217783730C>A	ENST00000366935.3	-	5	1141	c.1031G>T	c.(1030-1032)aGa>aTa	p.R344I	GPATCH2_ENST00000366934.3_Missense_Mutation_p.R344I	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	344						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GCGACTGAGTCTAGCTTGGAA	0.348													53	107					4.0306e-16	5.50729e-16	1	0	A	217783730	C	A	217783730	3	1	341	1	0	0	0	0	1	0	0	0	6640	913	32	2	579	2	GPATCH2	1	217783730	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1410740	217783730	31466891	59	63940											
DISP1	84976	broad.mit.edu	37	chr1	223175932	223175932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcactctggggccagactGctgggacatggcagccagaa	9	6	15	11	0	1	2	0	0	1	2	1	3	1	3	2	5	2	3	2	5	1	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:223175932G>C	ENST00000284476.6	+	8	1357	c.1193G>C	c.(1192-1194)tGc>tCc	p.C398S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	398					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGCCAGACTGCTGGGACATG	0.498											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	106					0	0	0	0	C	223175932	G	C	223175932	3	2	341	1	0	0	0	0	1	0	0	0	4576	1319	46	4	1219	4	DISP1	1	223175932	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	5392202	223175932	26074689	60	63941											
ENAH	55740	broad.mit.edu	37	chr1	225702367	225702367	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaagggcgattgtcttcTgacatggatgccaaaaagaa	14	10	11	6	1	2	2	0	1	2	1	2	4	2	3	1	2	1	1	1	2	5	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:225702367T>C	ENST00000366844.2	-	7	1600	c.1149A>G	c.(1147-1149)tcA>tcG	p.S383S	ENAH_ENST00000366843.2_Silent_p.S383S|ENAH_ENST00000284563.6_Silent_p.S630S	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	383					axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GATTGTCTTCTGACATGGATG	0.498													20	82					0	0	0	0	C	225702367	T	C	225702367	2	2	341	1	0	0	0	0	0	0	0	1	5149	1567	55	5		5	ENAH	1	225702367	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	2526435	225702367	23548254	61	63942											
ACBD3	64746	broad.mit.edu	37	chr1	226349347	226349347	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctccttttgcagacgttCtctttcttcctcttcacgcc	3	18	4	16	2	4	1	1	0	3	1	8	1	7	1	4	0	1	2	4	0	0	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:226349347C>G	ENST00000366812.5	-	4	667	c.613G>C	c.(613-615)Gaa>Caa	p.E205Q		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	205	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		tgcagacgttctctttcttcc	0.458													28	36					0	0	0	0	G	226349347	C	G	226349347	3	3	341	1	0	0	0	0	1	0	0	0	123	922	32	2	993	2	ACBD3	1	226349347	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	646980	226349347	22901274	62	63943											
GUK1	2987	broad.mit.edu	37	chr1	228336071	228336071	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccccaggccccacccacaGgcaaggagcccggcctgttt	8	4	11	18	1	0	0	0	0	0	0	0	2	0	1	7	4	1	2	7	4	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:228336071G>T	ENST00000366718.1	+	7	902		c.e7-1		GUK1_ENST00000366723.1_Intron|GUK1_ENST00000391865.3_Splice_Site|GUK1_ENST00000366728.2_Intron|GUK1_ENST00000366716.1_Splice_Site|GUK1_ENST00000366722.1_Splice_Site|GUK1_ENST00000366730.1_Splice_Site|GUK1_ENST00000470040.1_Splice_Site|GUK1_ENST00000366726.1_Splice_Site|GUK1_ENST00000366721.1_Splice_Site|GUK1_ENST00000312726.4_Splice_Site	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1						nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				CCCACCCACAGGCAAGGAGCC	0.657													15	24					1.3612e-06	1.55221e-06	1	0	T	228336071	G	T	228336071	5	4	341	1	0	0	0	0	0	0	1	0	6950	1014	35	4	564	4	GUK1	1	228336071	Splice_Site	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1986724	228336071	20914550	63	63944											
RYR2	6262	broad.mit.edu	37	chr1	237777849	237777849	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagggcagtcttcatgcccgGgacccagttggagggactac	8	7	15	11	1	2	0	1	0	1	0	2	4	2	3	2	4	2	2	2	4	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:237777849G>C	ENST00000366574.2	+	37	5738	c.5421G>C	c.(5419-5421)cgG>cgC	p.R1807R	RYR2_ENST00000360064.6_Silent_p.R1805R|RYR2_ENST00000542537.1_Silent_p.R1791R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1807	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCATGCCCGGGACCCAGTTG	0.478													93	225					0	0	0	0	C	237777849	G	C	237777849	2	2	341	1	0	0	0	0	0	0	0	1	13854	1219	43	4		4	RYR2	1	237777849	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	9441778	237777849	11472772	64	63945											
FMN2	56776	broad.mit.edu	37	chr1	240256804	240256804	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctccgtagccgccccGgccaagaagcaccgggccga	7	3	13	18	5	0	1	0	0	0	1	1	2	1	1	8	3	2	2	8	3	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:240256804G>T	ENST00000319653.9	+	1	1625	c.1395G>T	c.(1393-1395)ccG>ccT	p.P465P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	465					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TAGCCGCCCCGGCCAAGAAGC	0.731													5	52					0.00116845	0.00121897	1	0	T	240256804	G	T	240256804	2	4	341	1	0	0	0	0	0	0	0	1	5995	1103	39	3		3	FMN2	1	240256804	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2478955	240256804	8993817	65	63946											
OR6F1	343169	broad.mit.edu	37	chr1	247875869	247875869	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaggaaggagaggttgctCagaaagaagtacatgggggt	13	7	16	5	0	1	3	1	0	0	3	2	5	2	4	1	5	2	3	1	5	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:247875869C>G	ENST00000302084.2	-	1	236	c.189G>C	c.(187-189)ctG>ctC	p.L63L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGAGGTTGCTCAGAAAGAAGT	0.473													25	161					0	0	0	0	G	247875869	C	G	247875869	2	3	341	1	0	0	0	0	0	0	0	1	11272	813	29	2		2	OR6F1	1	247875869	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	7619065	247875869	1374752	66	63947											
OR1C1	26188	broad.mit.edu	37	chr1	247921267	247921267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtaagtaacaagccacaGtccagccactagctggacac	14	5	10	12	0	0	0	0	0	0	0	1	2	1	1	3	2	4	3	3	2	4	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:247921267G>C	ENST00000408896.2	-	1	715	c.442C>G	c.(442-444)Ctg>Gtg	p.L148V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACAAGCCACAGTCCAGCCACT	0.488													13	36					0	0	0	0	C	247921267	G	C	247921267	3	2	341	1	0	0	0	0	1	0	0	0	11023	1020	36	4	504	4	OR1C1	1	247921267	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	45398	247921267	1329354	67	63948											
SH3BP5L	80851	broad.mit.edu	37	chr1	249107234	249107234	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctcaaagtaggggcggCtcttgccgatggccctccgg	6	8	15	12	3	2	1	1	1	1	0	3	2	3	1	3	5	2	3	3	5	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:249107234C>G	ENST00000366472.5	-	6	1894	c.665G>C	c.(664-666)aGc>aCc	p.S222T	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.S190T	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	222								p.S222N(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GTAGGGGCGGCTCTTGCCGAT	0.652													18	73					0	0	0	0	G	249107234	C	G	249107234	3	3	341	1	0	0	0	0	1	0	0	0	14335	797	28	4	524	4	SH3BP5L	1	249107234	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1185967	249107234	143387	68	63949											
PGBD2	267002	broad.mit.edu	37	chr1	249212489	249212489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgccctctgccactcacAgaccaacacccggtgtgaga	9	7	10	15	1	2	2	1	1	1	2	2	3	2	2	4	1	3	0	4	1	1	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr1:249212489A>G	ENST00000355360.4	+	3	1223	c.953A>G	c.(952-954)cAg>cGg	p.Q318R	PGBD2_ENST00000329291.5_Missense_Mutation_p.Q569R|PGBD2_ENST00000539153.1_Missense_Mutation_p.Q566R	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	569										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGCCACTCACAGACCAACACC	0.542													45	143					0	0	0	0	G	249212489	A	G	249212489	3	3	341	1	0	0	0	0	1	0	0	0	11853	188	7	5	1712	5	PGBD2	1	249212489	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	105255	249212489	38132	69	63950											
MYT1L	23040	broad.mit.edu	37	chr2	1891338	1891338	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcacctccccgggatacCgtctttcttctagagcctcc	5	12	8	16	2	4	1	1	0	3	1	6	2	6	2	6	2	2	0	6	2	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:1891338C>G	ENST00000399161.2	-	17	3311	c.2564G>C	c.(2563-2565)cGg>cCg	p.R855P	MYT1L_ENST00000428368.2_Missense_Mutation_p.R853P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	855					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R855L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCCGGGATACCGTCTTTCTTC	0.512													37	133					0	0	0	0	G	1891338	C	G	1891338	3	3	341	1	0	0	0	0	1	0	0	0	10177	652	23	3	1032	3	MYT1L	2	1891338	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08		1891338	241308035	70	63951											
RSAD2	91543	broad.mit.edu	37	chr2	7023518	7023518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggtatggagaagatcaaCttttcaggtggagagccatt	13	10	12	6	0	2	3	2	0	0	3	2	5	2	3	1	4	2	1	1	4	3	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:7023518C>A	ENST00000382040.3	+	2	499	c.363C>A	c.(361-363)aaC>aaA	p.N121K	RSAD2_ENST00000541728.1_Missense_Mutation_p.N14K	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	121					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AGAAGATCAACTTTTCAGGTG	0.413													14	68					2.32078e-09	2.83488e-09	1	0	A	7023518	C	A	7023518	3	1	341	1	0	0	0	0	1	0	0	0	13780	564	20	4	369	4	RSAD2	2	7023518	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	5132180	7023518	236175855	71	63952											
OSR1	130497	broad.mit.edu	37	chr2	19553164	19553164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggccctccccgcgacCgagcttggccggatcttctt	3	9	12	17	4	2	0	0	0	2	0	3	3	3	1	6	3	1	1	6	3	0	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:19553164C>A	ENST00000536433.1	-	1	3513	c.403G>T	c.(403-405)Ggt>Tgt	p.G135C	OSR1_ENST00000272223.2_Missense_Mutation_p.G135C			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	135					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TCCCCGCGACCGAGCTTGGCC	0.642													25	100					9.57634e-11	1.208e-10	1	0	A	19553164	C	A	19553164	3	1	341	1	0	0	0	0	1	0	0	0	11364	652	23	3	405	3	OSR1	2	19553164	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	12529646	19553164	223646209	72	63953											
BIRC6	57448	broad.mit.edu	37	chr2	32640703	32640703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactatgtaatagacggaaaGgtgagctggaatcaaatctt	15	10	10	6	1	2	2	1	1	1	1	2	4	2	4	0	3	1	2	0	3	6	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:32640703G>T	ENST00000421745.2	+	10	2478	c.2344G>T	c.(2344-2346)Ggt>Tgt	p.G782C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	782					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TAGACGGAAAGGTGAGCTGGA	0.378													20	97					1.55795e-14	2.08808e-14	1	0	T	32640703	G	T	32640703	3	4	341	1	0	0	0	0	1	0	0	0	1443	1000	35	4	2382	4	BIRC6	2	32640703	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	13087539	32640703	210558670	73	63954											
SOS1	6654	broad.mit.edu	37	chr2	39294839	39294839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgcaaaattaattcttcaAcatactgaagagcatcatca	17	12	4	8	0	4	2	3	1	1	1	4	2	4	2	0	0	4	2	0	0	6	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:39294839A>G	ENST00000426016.1	-	3	229	c.143T>C	c.(142-144)gTt>gCt	p.V48A	SOS1_ENST00000395038.2_Missense_Mutation_p.V48A|SOS1_ENST00000428721.2_5'UTR|SOS1_ENST00000402219.2_Missense_Mutation_p.V48A			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	48					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TAATTCTTCAACATACTGAAG	0.358									Noonan syndrome				57	230					0	0	0	0	G	39294839	A	G	39294839	3	3	341	1	0	0	0	0	1	0	0	0	15024	43	2	5	3946	5	SOS1	2	39294839	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	6654136	39294839	203904534	74	63955											
SLC8A1	6546	broad.mit.edu	37	chr2	40657172	40657172	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacatgtagaccatggcCacaaaatacacagtagctct	17	7	7	10	0	1	2	0	0	1	2	1	2	1	2	2	1	3	3	2	1	6	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:40657172C>G	ENST00000406785.1	-	2	438	c.249G>C	c.(247-249)gtG>gtC	p.V83V	SLC8A1_ENST00000408028.2_Silent_p.V83V|SLC8A1_ENST00000405901.3_Silent_p.V83V|SLC8A1_ENST00000405269.1_Silent_p.V83V|SLC8A1_ENST00000403092.1_Silent_p.V83V|SLC8A1_ENST00000402441.1_Silent_p.V83V|SLC8A1_ENST00000332839.4_Silent_p.V83V|SLC8A1_ENST00000542756.1_Silent_p.V83V|SLC8A1_ENST00000542024.1_Silent_p.V83V|SLC8A1_ENST00000406391.2_Silent_p.V83V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	83					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			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)	AGACCATGGCCACAAAATACA	0.403													45	138					0	0	0	0	G	40657172	C	G	40657172	2	3	341	1	0	0	0	0	0	0	0	1	14794	581	21	4		4	SLC8A1	2	40657172	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1362333	40657172	202542201	75	63956											
NRXN1	9378	broad.mit.edu	37	chr2	50573846	50573846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caccgtgtccgcctcgcaagGatgccggtgacctgtagatt	7	9	12	13	4	0	2	0	1	0	1	2	3	1	3	5	2	1	2	5	2	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:50573846G>A	ENST00000342183.5	-	1	1046	c.242C>T	c.(241-243)tCc>tTc	p.S81F	NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000331040.5_Intron	NM_138735.2	NP_620072.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	0	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCTCGCAAGGATGCCGGTGA	0.602													18	32					0	0	0	0	A	50573846	G	A	50573846	3	1	341	1	0	0	0	0	1	0	0	0	10736	1174	41	2	1204	2	NRXN1	2	50573846	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	9916674	50573846	192625527	76	63957											
NRXN1	9378	broad.mit.edu	37	chr2	50733732	50733732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcattgaggttatagccagCaaaaagagtctcgggacctt	13	10	10	8	1	2	2	1	1	1	1	3	3	2	3	2	2	2	2	2	2	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:50733732C>T	ENST00000404971.1	-	14	3857	c.2518G>A	c.(2518-2520)Gct>Act	p.A840T	NRXN1_ENST00000406316.2_Missense_Mutation_p.A800T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A800T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A792T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A800T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A792T|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	800	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTATAGCCAGCAAAAAGAGTC	0.448													9	35					0	0	0	0	T	50733732	C	T	50733732	3	4	341	1	0	0	0	0	1	0	0	0	10736	710	25	4	2432	4	NRXN1	2	50733732	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	159886	50733732	192465641	77	63958											
CCDC85A	114800	broad.mit.edu	37	chr2	56420107	56420107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggagcgccagccccgagCatccacagaaacccagagcc	13	1	10	17	2	0	2	0	0	0	2	1	4	1	3	6	1	5	1	6	1	1	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:56420107C>A	ENST00000407595.2	+	2	1274	c.772C>A	c.(772-774)Cat>Aat	p.H258N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	258	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGCCCCGAGCATCCACAGAA	0.662													7	52					0.0381472	0.0385972	1	0	A	56420107	C	A	56420107	3	1	341	1	0	0	0	0	1	0	0	0	2886	710	25	4	778	4	CCDC85A	2	56420107	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	5686375	56420107	186779266	78	63959											
DYSF	8291	broad.mit.edu	37	chr2	71709054	71709054	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccctggaccagggctctGagcttcatgtggtggtcaaa	7	10	12	12	0	3	1	2	1	1	0	4	2	4	2	3	4	1	2	3	4	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:71709054G>T	ENST00000258104.3	+	3	467	c.190G>T	c.(190-192)Gag>Tag	p.E64*	DYSF_ENST00000413539.2_Nonsense_Mutation_p.E64*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E64*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E65*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.E65*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E65*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.E64*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E64*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	64	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCAGGGCTCTGAGCTTCATGT	0.537													17	39					0.00498961	0.00512913	1	0	T	71709054	G	T	71709054	4	4	341	1	0	0	0	0	0	1	0	0	4895	1291	45	2	295	2	DYSF	2	71709054	Nonsense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	15288947	71709054	171490319	79	63960											
SLC4A5	57835	broad.mit.edu	37	chr2	74454651	74454651	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaatgctcactggagtcAgcttcttctggattttgaat	9	15	10	7	0	4	2	2	2	2	0	4	4	4	4	0	2	2	2	0	2	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:74454651A>C	ENST00000377634.4	-	27	3356	c.2957T>G	c.(2956-2958)cTg>cGg	p.L986R	SLC4A5_ENST00000423644.1_Intron|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000394019.2_Intron|SLC4A5_ENST00000377632.1_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000357822.5_Missense_Mutation_p.L986R|SLC4A5_ENST00000346834.4_Intron			Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	986						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.L986fs*12(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACTGGAGTCAGCTTCTTCTG	0.413													8	41					0	0	0	0	C	74454651	A	C	74454651	3	2	341	1	0	0	0	0	1	0	0	0	14745	188	7	5	476	5	SLC4A5	2	74454651	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	2745597	74454651	168744722	80	63961											
REG1B	5968	broad.mit.edu	37	chr2	79314679	79314679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggggaaaatctcaccttgGctcagagacaggaacatcag	13	7	12	9	0	3	1	3	0	1	1	4	4	3	3	1	4	1	1	1	4	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:79314679G>T	ENST00000305089.3	-	2	140	c.60C>A	c.(58-60)agC>agA	p.S20R		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	20					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCTCACCTTGGCTCAGAGACA	0.473													7	30					6.5536e-12	8.37646e-12	1	0	T	79314679	G	T	79314679	3	4	341	1	0	0	0	0	1	0	0	0	13293	1194	42	4	460	4	REG1B	2	79314679	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	4860028	79314679	163884694	81	63962											
REG3A	5068	broad.mit.edu	37	chr2	79384406	79384406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acattacagttataatctttCcacctcagaaatgctggaga	14	12	6	9	0	2	2	1	0	1	2	3	3	3	2	2	1	2	2	2	1	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:79384406C>A	ENST00000393878.1	-	5	728	c.474G>T	c.(472-474)tgG>tgT	p.W158C	REG3A_ENST00000305165.2_Missense_Mutation_p.W158C|REG3A_ENST00000409839.3_Missense_Mutation_p.W158C	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	158	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TATAATCTTTCCACCTCAGAA	0.458													11	51					0.000978159	0.00102184	1	0	A	79384406	C	A	79384406	3	1	341	1	0	0	0	0	1	0	0	0	13294	856	30	2	57	2	REG3A	2	79384406	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	69727	79384406	163814967	82	63963											
GGCX	2677	broad.mit.edu	37	chr2	85782667	85782667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatagccttcaacccagTctgcatccagctttttcaca	10	12	6	13	0	3	0	2	0	1	0	4	1	4	1	3	1	4	2	3	1	3	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:85782667T>C	ENST00000233838.3	-	6	745	c.665A>G	c.(664-666)gAc>gGc	p.D222G	GGCX_ENST00000430215.3_Missense_Mutation_p.D165G	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	222					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	TTCAACCCAGTCTGCATCCAG	0.443													11	39					0	0	0	0	C	85782667	T	C	85782667	3	2	341	1	0	0	0	0	1	0	0	0	6407	1667	58	5	1651	5	GGCX	2	85782667	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	6398261	85782667	157416706	83	63964											
ASTL	431705	broad.mit.edu	37	chr2	96799254	96799254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaaactccgcaagagccTccaggatgacctggcggctg	9	7	12	13	2	1	2	1	1	0	1	3	3	3	3	4	3	2	3	4	3	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:96799254T>C	ENST00000342380.2	-	5	364	c.365A>G	c.(364-366)gAg>gGg	p.E122G		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	122					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CGCAAGAGCCTCCAGGATGAC	0.572													11	61					0	0	0	0	C	96799254	T	C	96799254	3	2	341	1	0	0	0	0	1	0	0	0	1067	1551	54	5	949	5	ASTL	2	96799254	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	11016587	96799254	146400119	84	63965											
CNGA3	1261	broad.mit.edu	37	chr2	99012724	99012724	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggtccaccttgacccttaCcaccattggtgagaccccac	8	9	7	17	0	0	2	0	2	0	1	1	3	1	2	7	2	1	0	7	2	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:99012724C>A	ENST00000393504.1	+	8	1508	c.1091C>A	c.(1090-1092)aCc>aAc	p.T364N	CNGA3_ENST00000272602.2_Missense_Mutation_p.T364N|CNGA3_ENST00000436404.2_Missense_Mutation_p.T346N|CNGA3_ENST00000409937.1_Missense_Mutation_p.T368N	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	364					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTGACCCTTACCACCATTGGT	0.527													20	70					1.15919e-05	1.29133e-05	1	0	A	99012724	C	A	99012724	3	1	341	1	0	0	0	0	1	0	0	0	3628	507	18	4	1117	4	CNGA3	2	99012724	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2213470	99012724	144186649	85	63966											
AFF3	3899	broad.mit.edu	37	chr2	100210323	100210323	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgggccggtggcagttGgcgccgtccccggctgaggt	2	8	17	14	5	0	1	0	1	0	0	3	1	2	1	5	6	0	3	5	6	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:100210323G>T	ENST00000317233.4	-	14	2035	c.1800C>A	c.(1798-1800)gcC>gcA	p.A600A	AFF3_ENST00000409579.1_Silent_p.A625A|AFF3_ENST00000409236.1_Silent_p.A600A|AFF3_ENST00000356421.2_Silent_p.A625A	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	600					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGTGGCAGTTGGCGCCGTCCC	0.756													3	35					6.4e-05	6.98007e-05	1	0	T	100210323	G	T	100210323	2	4	341	1	0	0	0	0	0	0	0	1	358	1335	47	4		4	AFF3	2	100210323	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1197599	100210323	142989050	86	63967											
CLASP1	23332	broad.mit.edu	37	chr2	122125290	122125290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggccccgggaaggcgcGcggaggctgggtgttgagta	5	5	20	11	6	0	1	0	1	0	0	0	3	0	3	3	6	0	3	3	6	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:122125290G>A	ENST00000263710.4	-	35	4149	c.3760C>T	c.(3760-3762)Cgc>Tgc	p.R1254C	CLASP1_ENST00000541377.1_Missense_Mutation_p.R1193C|CLASP1_ENST00000455322.2_Missense_Mutation_p.R1210C|CLASP1_ENST00000545861.1_Missense_Mutation_p.R961C|CLASP1_ENST00000409078.3_Missense_Mutation_p.R1187C|CLASP1_ENST00000397587.3_Missense_Mutation_p.R1194C|CLASP1_ENST00000541859.1_Missense_Mutation_p.R971C	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1254	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGGAAGGCGCGCGGAGGCTGG	0.632													33	88					0	0	0	0	A	122125290	G	A	122125290	3	1	341	1	0	0	0	0	1	0	0	0	3484	1087	38	1	880	1	CLASP1	2	122125290	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	21914967	122125290	121074083	87	63968											
CCDC74B	91409	broad.mit.edu	37	chr2	130897665	130897665	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagggacttgaggtgcTgcagctgaaaggcaggggca	10	5	18	8	0	0	2	0	2	0	0	0	4	0	4	1	6	3	5	1	6	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:130897665T>A	ENST00000392984.3	-	5	1930	c.1187A>T	c.(1186-1188)cAg>cTg	p.Q396L	CCDC74B_ENST00000310463.6_Missense_Mutation_p.Q294L|CCDC74B_ENST00000409943.3_Missense_Mutation_p.Q228L			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	294										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CTTGAGGTGCTGCAGCTGAAA	0.692													7	56					0	0	0	0	A	130897665	T	A	130897665	3	1	341	1	0	0	0	0	1	0	0	0	2875	1580	55	5	273	5	CCDC74B	2	130897665	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	8772375	130897665	112301708	88	63969											
LCT	3938	broad.mit.edu	37	chr2	136567555	136567555	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgaacatccacagagtcttCcttgatagctgtgaagaaaa	15	9	8	9	1	1	4	0	2	1	2	3	5	3	4	2	0	2	1	2	0	5	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:136567555C>A	ENST00000264162.2	-	8	2372	c.2362G>T	c.(2362-2364)Gaa>Taa	p.E788*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	788	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACAGAGTCTTCCTTGATAGCT	0.428													18	55					3.52763e-06	3.97567e-06	1	0	A	136567555	C	A	136567555	4	1	341	1	0	0	0	0	0	1	0	0	8746	864	30	2	3461	2	LCT	2	136567555	Nonsense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	5669890	136567555	106631818	89	63970											
THSD7B	80731	broad.mit.edu	37	chr2	138169329	138169329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaagggagcctcaccgagGactgcgggtacaagcagaca	13	3	14	11	2	1	2	1	0	0	2	1	5	1	4	2	3	4	2	2	3	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:138169329G>T	ENST00000409968.1	+	14	3024	c.2846G>T	c.(2845-2847)gGa>gTa	p.G949V	THSD7B_ENST00000413152.2_Missense_Mutation_p.G918V|THSD7B_ENST00000272643.3_Missense_Mutation_p.G949V|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTCACCGAGGACTGCGGGTA	0.488													31	117					2.47511e-08	2.94874e-08	1	0	T	138169329	G	T	138169329	3	4	341	1	0	0	0	0	1	0	0	0	15974	1174	41	2	2803	2	THSD7B	2	138169329	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1601774	138169329	105030044	90	63971											
NEB	4703	broad.mit.edu	37	chr2	152423820	152423820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcggccaagactgacacCatatcagcaggtatattgat	12	10	10	9	1	1	3	1	2	0	1	1	3	1	3	2	3	1	2	2	3	4	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:152423820C>A	ENST00000427231.2	-	114	18220	c.18018G>T	c.(18016-18018)atG>atT	p.M6006I	NEB_ENST00000603639.1_Missense_Mutation_p.M6006I|NEB_ENST00000604864.1_Missense_Mutation_p.M6006I|NEB_ENST00000409198.1_Missense_Mutation_p.M4305I|NEB_ENST00000397345.3_Missense_Mutation_p.M6006I|NEB_ENST00000172853.10_Missense_Mutation_p.M4305I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6023					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGACTGACACCATATCAGCAG	0.448													32	86					8.16721e-17	1.13197e-16	1	0	A	152423820	C	A	152423820	3	1	341	1	0	0	0	0	1	0	0	0	10372	594	21	4	7944	4	NEB	2	152423820	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	14254491	152423820	90775553	91	63972											
ARL6IP6	151188	broad.mit.edu	37	chr2	153575218	153575218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccctgtggctcggccatCgtattcctcctttactcagg	4	12	11	14	2	1	0	1	0	0	0	5	0	3	0	4	4	1	2	4	4	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:153575218C>T	ENST00000326446.5	+	1	791	c.80C>T	c.(79-81)tCg>tTg	p.S27L		NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	27						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						GCTCGGCCATCGTATTCCTCC	0.677													13	64					0	0	0	0	T	153575218	C	T	153575218	3	4	341	1	0	0	0	0	1	0	0	0	949	893	31	1	82	1	ARL6IP6	2	153575218	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1151398	153575218	89624155	92	63973											
TBR1	10716	broad.mit.edu	37	chr2	162276742	162276742	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagatcacaacccttttgcAaaaggatttcgggataatta	15	12	7	7	1	1	1	1	0	0	1	2	3	1	3	1	2	2	1	1	2	6	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:162276742A>G	ENST00000389554.3	+	5	1481	c.1164A>G	c.(1162-1164)gcA>gcG	p.A388A	TBR1_ENST00000489530.1_3'UTR|TBR1_ENST00000410035.1_Silent_p.A101A	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	388						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ACCCTTTTGCAAAAGGATTTC	0.338													17	96					0	0	0	0	G	162276742	A	G	162276742	2	3	341	1	0	0	0	0	0	0	0	1	15741	117	5	5		5	TBR1	2	162276742	Silent	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	8701524	162276742	80922631	93	63974											
FIGN	55137	broad.mit.edu	37	chr2	164466530	164466530	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcagaaattcggttctcatCcgactgactggactatgttc	10	13	8	10	2	2	2	2	1	1	1	6	4	3	3	1	2	0	2	1	2	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:164466530C>T	ENST00000333129.3	-	3	2126	c.1812G>A	c.(1810-1812)cgG>cgA	p.R604R	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	604						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGTTCTCATCCGACTGACTG	0.458													30	99					0	0	0	0	T	164466530	C	T	164466530	2	4	341	1	0	0	0	0	0	0	0	1	5936	842	30	2		2	FIGN	2	164466530	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2189788	164466530	78732843	94	63975											
SCN1A	6323	broad.mit.edu	37	chr2	166848149	166848149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagagcatccatctctccaCtctctcctagaacccgcttt	8	12	5	16	1	2	2	0	0	2	2	7	2	5	2	4	0	2	3	4	0	3	3	rs112244937		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:166848149C>T	ENST00000423058.2	-	26	5653	c.5636G>A	c.(5635-5637)aGt>aAt	p.S1879N	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S1851N|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1868N|SCN1A_ENST00000303395.4_Missense_Mutation_p.S1879N|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1879						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATCTCTCCACTCTCTCCTAG	0.453													28	94					0	0	0	0	T	166848149	C	T	166848149	3	4	341	1	0	0	0	0	1	0	0	0	14001	565	20	4	397	4	SCN1A	2	166848149	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2381619	166848149	76351224	95	63976											
HOXD3	3232	broad.mit.edu	37	chr2	177034167	177034167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggcagccagcctcctGgtctgaactcagagcagcag	8	7	14	12	0	2	2	1	1	1	1	3	2	3	2	3	3	5	3	3	3	1	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:177034167G>T	ENST00000468418.3	+	3	2415	c.325G>T	c.(325-327)Ggt>Tgt	p.G109C	HOXD3_ENST00000249440.3_Missense_Mutation_p.G109C|HOXD3_ENST00000410016.1_Missense_Mutation_p.G109C			P31249	HXD3_HUMAN	homeobox D3	109					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CCAGCCTCCTGGTCTGAACTC	0.642													20	43					4.63292e-17	6.47938e-17	1	0	T	177034167	G	T	177034167	3	4	341	1	0	0	0	0	1	0	0	0	7373	1348	47	4	327	4	HOXD3	2	177034167	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	10186018	177034167	66165206	96	63977											
TTN	7273	broad.mit.edu	37	chr2	179431082	179431082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttaattcggagtcaaggtCaagttcaggtgcttcaagtt	10	14	10	7	1	5	0	4	0	1	0	6	1	5	1	0	3	1	3	0	3	4	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:179431082C>T	ENST00000589042.1	-	326	80001	c.79777G>A	c.(79777-79779)Gac>Aac	p.D26593N	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D17528N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D17653N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D24025N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D17720N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24952N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24952	Fibronectin type-III 93.						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)			GAGTCAAGGTCAAGTTCAGGT	0.433													56	203					0	0	0	0	T	179431082	C	T	179431082	3	4	341	1	0	0	0	0	1	0	0	0	16831	826	29	2	28350	2	TTN	2	179431082	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2396915	179431082	63768291	97	63978											
TTN	7273	broad.mit.edu	37	chr2	179435190	179435190	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggggtttccaagctagTgtgcatttttctgctgtaac	7	15	12	7	0	1	0	0	0	1	0	2	0	2	0	1	2	4	5	1	2	3	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:179435190T>A	ENST00000589042.1	-	326	75893	c.75669A>T	c.(75667-75669)acA>acT	p.T25223T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.T16158T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.T16283T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.T22655T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.T16350T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T23582T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23582	Fibronectin type-III 83.						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)			TCCAAGCTAGTGTGCATTTTT	0.458													6	38					0	0	0	0	A	179435190	T	A	179435190	2	1	341	1	0	0	0	0	0	0	0	1	16831	1683	59	5		5	TTN	2	179435190	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	4108	179435190	63764183	98	63979											
TTN	7273	broad.mit.edu	37	chr2	179587599	179587599	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccagcaacttggcattGtaaagaaaccgaatctccaa	14	9	7	11	1	1	1	0	0	1	1	3	2	2	1	3	1	3	3	3	1	6	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:179587599G>C	ENST00000589042.1	-	76	22251	c.22027C>G	c.(22027-22029)Caa>Gaa	p.Q7343E	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q6099E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q7026E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7026	Ig-like 55.						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)			ACTTGGCATTGTAAAGAAACC	0.438													12	40					0	0	0	0	C	179587599	G	C	179587599	3	2	341	1	0	0	0	0	1	0	0	0	16831	1386	48	4	82650	4	TTN	2	179587599	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	152409	179587599	63611774	99	63980											
TTN	7273	broad.mit.edu	37	chr2	179602967	179602967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcactctcataaatttctCggccagctttaaaccactgg	10	13	6	12	1	3	0	2	0	2	0	5	0	3	0	2	2	2	1	2	2	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:179602967C>T	ENST00000589042.1	-	49	14437	c.14213G>A	c.(14212-14214)cGa>cAa	p.R4738Q	TTN_ENST00000460472.2_Missense_Mutation_p.R4375Q|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4500Q|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R3494Q|TTN_ENST00000342175.6_Missense_Mutation_p.R4567Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R4421Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4421	Ig-like 27.						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)			ATAAATTTCTCGGCCAGCTTT	0.473													16	52					0	0	0	0	T	179602967	C	T	179602967	3	4	341	1	0	0	0	0	1	0	0	0	16831	884	31	1	90572	1	TTN	2	179602967	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	15368	179602967	63596406	100	63981											
TTN	7273	broad.mit.edu	37	chr2	179633560	179633560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttccacaccattctttaaCcatttgtaagagatgccttc	11	15	4	11	0	1	1	0	0	1	1	3	2	2	1	4	0	2	1	4	0	2	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:179633560C>A	ENST00000589042.1	-	38	9227	c.9003G>T	c.(9001-9003)tgG>tgT	p.W3001C	TTN_ENST00000460472.2_Missense_Mutation_p.W2955C|TTN_ENST00000359218.5_Missense_Mutation_p.W2955C|TTN_ENST00000342992.6_Missense_Mutation_p.W3001C|TTN_ENST00000342175.6_Missense_Mutation_p.W2955C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.W3001C|TTN_ENST00000591111.1_Missense_Mutation_p.W3001C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2740	Ig-like 17.						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)			CATTCTTTAACCATTTGTAAG	0.393													18	82					9.16793e-09	1.10072e-08	1	0	A	179633560	C	A	179633560	3	1	341	1	0	0	0	0	1	0	0	0	16831	508	18	4	102285	4	TTN	2	179633560	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	30593	179633560	63565813	101	63982											
TTN	7273	broad.mit.edu	37	chr2	179642595	179642595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcctccagcctacgtccaGgggacattcttgcaggggac	7	9	11	14	1	2	0	0	0	2	0	5	2	4	2	4	4	3	1	4	4	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:179642595G>T	ENST00000589042.1	-	25	4540	c.4316C>A	c.(4315-4317)cCt>cAt	p.P1439H	TTN_ENST00000460472.2_Missense_Mutation_p.P1393H|TTN_ENST00000359218.5_Missense_Mutation_p.P1393H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P1439H|TTN_ENST00000342175.6_Missense_Mutation_p.P1393H|TTN_ENST00000360870.5_Missense_Mutation_p.P1439H|TTN_ENST00000591111.1_Missense_Mutation_p.P1439H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1439	ZIS5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P1439H(3)|p.P1393H(3)		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)			CCTACGTCCAGGGGACATTCT	0.483													26	68					6.32553e-13	8.24883e-13	1	0	T	179642595	G	T	179642595	3	4	341	1	0	0	0	0	1	0	0	0	16831	1000	35	4	107024	4	TTN	2	179642595	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	9035	179642595	63556778	102	63983											
ZSWIM2	151112	broad.mit.edu	37	chr2	187703739	187703739	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtagctcttgacaaatagaGcagatatcctctgaatcaat	15	11	7	8	0	3	4	1	2	2	2	4	4	4	4	1	0	2	3	1	0	6	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:187703739G>T	ENST00000295131.2	-	4	480	c.441C>A	c.(439-441)tgC>tgA	p.C147*		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	147					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GACAAATAGAGCAGATATCCT	0.338													22	385					6.33239e-15	8.53159e-15	1	0	T	187703739	G	T	187703739	4	4	341	1	0	0	0	0	0	1	0	0	18332	963	34	4	1484	4	ZSWIM2	2	187703739	Nonsense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	8061144	187703739	55495634	103	63984											
COL3A1	1281	broad.mit.edu	37	chr2	189870120	189870120	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacggtctcagtggagaacgTggtccccctggaccccaggg	8	6	14	13	2	1	1	1	0	1	1	3	3	2	2	4	5	2	0	4	5	2	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:189870120T>A	ENST00000304636.3	+	41	3146	c.2976T>A	c.(2974-2976)cgT>cgA	p.R992R	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	992	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTGGAGAACGTGGTCCCCCTG	0.453													27	111					0	0	0	0	A	189870120	T	A	189870120	2	1	341	1	0	0	0	0	0	0	0	1	3718	1683	59	5		5	COL3A1	2	189870120	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	2166381	189870120	53329253	104	63985											
COL5A2	1290	broad.mit.edu	37	chr2	189931195	189931195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccttcttcaccgggtgggCctatcggaccctgaatacca	7	10	10	14	2	2	1	1	1	1	0	3	2	2	2	5	3	2	0	5	3	3	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:189931195C>A	ENST00000374866.3	-	23	1758	c.1484G>T	c.(1483-1485)gGc>gTc	p.G495V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	495					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACCGGGTGGGCCTATCGGACC	0.473													82	222					9.04243e-43	1.40458e-42	1	0	A	189931195	C	A	189931195	3	1	341	1	0	0	0	0	1	0	0	0	3727	739	26	4	3143	4	COL5A2	2	189931195	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	61075	189931195	53268178	105	63986											
DNAH7	56171	broad.mit.edu	37	chr2	196771688	196771688	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtacttccaaatcaattcTgttaaactcatcaaagcaag	16	11	5	9	0	4	0	3	0	1	0	5	1	5	0	1	0	3	3	1	0	7	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:196771688T>C	ENST00000312428.6	-	26	4250	c.4150A>G	c.(4150-4152)Aga>Gga	p.R1384G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1384	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAATCAATTCTGTTAAACTCA	0.348													18	64					0	0	0	0	C	196771688	T	C	196771688	3	2	341	1	0	0	0	0	1	0	0	0	4642	1588	55	5	8084	5	DNAH7	2	196771688	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	6840493	196771688	46427685	106	63987											
STRADB	55437	broad.mit.edu	37	chr2	202343226	202343226	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccagtggaactcacacAgtaaatagtgaccgattaca	14	9	8	10	1	2	1	1	1	1	0	3	3	2	2	2	1	2	1	2	1	5	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:202343226A>G	ENST00000194530.3	+	10	1337	c.972A>G	c.(970-972)acA>acG	p.T324T	STRADB_ENST00000392249.2_Silent_p.T324T	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	324	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GAACTCACACAGTAAATAGTG	0.428													22	77					0	0	0	0	G	202343226	A	G	202343226	2	3	341	1	0	0	0	0	0	0	0	1	15415	175	7	5		5	STRADB	2	202343226	Silent	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	5571538	202343226	40856147	107	63988											
ZDBF2	57683	broad.mit.edu	37	chr2	207173026	207173026	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagtggctggccaacctgaAgaagtagttaaggaggtcag	12	7	14	8	0	1	2	1	1	0	1	1	3	1	3	3	4	1	3	3	4	5	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:207173026A>T	ENST00000374423.3	+	5	4160	c.3774A>T	c.(3772-3774)gaA>gaT	p.E1258D		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1258							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCCAACCTGAAGAAGTAGTTA	0.383													19	56					0	0	0	0	T	207173026	A	T	207173026	3	4	341	1	0	0	0	0	1	0	0	0	17694	69	3	5	3784	5	ZDBF2	2	207173026	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	4829800	207173026	36026347	108	63989											
MAP2	4133	broad.mit.edu	37	chr2	210557934	210557934	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctgcctttttacagcCagatgacaaaaaatctctgc	11	11	6	13	0	1	2	0	1	1	1	2	2	1	2	4	0	5	0	4	0	4	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:210557934C>A	ENST00000360351.4	+	7	1546	c.1040C>A	c.(1039-1041)cCa>cAa	p.P347Q	MAP2_ENST00000447185.1_Missense_Mutation_p.P343Q|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	347					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTTTTACAGCCAGATGACAAA	0.438													17	74					6.94344e-10	8.54918e-10	1	0	A	210557934	C	A	210557934	3	1	341	1	0	0	0	0	1	0	0	0	9304	594	21	4	1054	4	MAP2	2	210557934	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3384908	210557934	32641439	109	63990											
ACADL	33	broad.mit.edu	37	chr2	211081170	211081170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcttctgagccatggtttGtaatataggacatgacaata	12	14	9	6	0	2	2	0	2	2	0	2	3	2	3	1	2	1	3	1	2	5	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:211081170G>A	ENST00000233710.3	-	4	664	c.437C>T	c.(436-438)aCa>aTa	p.T146I	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	146					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		GCCATGGTTTGTAATATAGGA	0.383													33	93					0	0	0	0	A	211081170	G	A	211081170	3	1	341	1	0	0	0	0	1	0	0	0	112	1377	48	4	887	4	ACADL	2	211081170	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	523236	211081170	32118203	110	63991											
ATIC	471	broad.mit.edu	37	chr2	216182916	216182916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggatttcctgaaatgttGgggggacgtgtgaaaacttt	10	12	14	5	2	0	2	0	2	0	0	1	4	1	4	1	4	1	1	1	4	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:216182916G>T	ENST00000435675.1	+	2	571	c.180G>T	c.(178-180)ttG>ttT	p.L60F	ATIC_ENST00000540518.1_Missense_Mutation_p.L2F|ATIC_ENST00000236959.9_Missense_Mutation_p.L61F			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	61					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CTGAAATGTTGGGGGGACGTG	0.393			T	ALK	ALCL								28	141					1.88708e-17	2.64878e-17	1	0	T	216182916	G	T	216182916	3	4	341	1	0	0	0	0	1	0	0	0	1109	1339	47	4	193	4	ATIC	2	216182916	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	5101746	216182916	27016457	111	63992											
XRCC5	7520	broad.mit.edu	37	chr2	216992302	216992303	+	Frame_Shift_Ins	INS	-	-	A																															acttggacagttgtggatgcINSaaaaaccctaaaaaaagaag																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:216992302_216992303insA	ENST00000392133.3	+	10	1303_1304	c.842_843insA	c.(841-843)gaafs	p.E281fs	XRCC5_ENST00000392132.2_Frame_Shift_Ins_p.E281fs			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	281	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GTTGTGGATGCAAAAACCCTAA	0.307								Non-homologous end-joining					33	81	---	---	---	---					A	216992303	-	A	216992302	7	5	341	1	0	1	1	0	0	0	0	0	17552	710	25	0	872	0	XRCC5	2	216992302	Frame_Shift_Ins	INS	-	TCGA-CV-A461-01A-41D-A25Y-08	809386	216992302	26207071	112	63993											
ARPC2	10109	broad.mit.edu	37	chr2	219103471	219103471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagctggcatgttgaagcGaaattgttttgcctctgtct	8	15	10	8	1	3	1	1	1	2	0	3	2	3	1	1	1	3	4	1	1	3	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:219103471G>T	ENST00000295685.10	+	5	614	c.353G>T	c.(352-354)cGa>cTa	p.R118L	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.R118L	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	118					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		ATGTTGAAGCGAAATTGTTTT	0.423													13	195					0.000151284	0.000163117	1	0	T	219103471	G	T	219103471	3	4	341	1	0	0	0	0	1	0	0	0	975	1058	37	3	371	3	ARPC2	2	219103471	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2111169	219103471	24095902	113	63994											
ZNF142	7701	broad.mit.edu	37	chr2	219507194	219507194	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaagccgtgggtgctgttTacgggtgtgtcctcgtaagc	5	12	14	10	3	1	0	1	0	0	0	3	0	2	0	2	2	4	3	2	2	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:219507194T>C	ENST00000411696.2	-	7	4824	c.4045A>G	c.(4045-4047)Aaa>Gaa	p.K1349E	ZNF142_ENST00000449707.1_Missense_Mutation_p.K1349E			P52746	ZN142_HUMAN	zinc finger protein 142	1349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGGTGCTGTTTACGGGTGTGT	0.657													16	52					0	0	0	0	C	219507194	T	C	219507194	3	2	341	1	0	0	0	0	1	0	0	0	17826	1763	61	5	1030	5	ZNF142	2	219507194	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	403723	219507194	23692179	114	63995											
TMEM198	130612	broad.mit.edu	37	chr2	220409616	220409616	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcgtctactgcttcttcgGtgagatccccatctcatccc	6	13	7	15	2	3	1	1	1	3	1	8	2	5	1	3	1	2	1	3	1	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:220409616G>A	ENST00000344458.2	+	3	751		c.e3+1		TMEM198_ENST00000373883.3_Splice_Site			Q66K66	TM198_HUMAN	transmembrane protein 198							integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCTTCTTCGGTGAGATCCCC	0.562													8	57					0	0	0	0	A	220409616	G	A	220409616	5	1	341	1	0	0	0	0	0	0	1	0	16213	1275	44	4	169	4	TMEM198	2	220409616	Splice_Site	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	902422	220409616	22789757	115	63996											
SLC4A3	6508	broad.mit.edu	37	chr2	220494070	220494070	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaggaagaggaggaagAggaggaagaggaaggagaat	18	2	21	0	0	0	5	0	1	0	4	0	13	0	12	0	8	0	0	0	8	5	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:220494070A>T	ENST00000358055.3	+	4	934	c.422A>T	c.(421-423)gAg>gTg	p.E141V	SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E141V|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E141V|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E141V|SLC4A3_ENST00000317151.3_Missense_Mutation_p.E141V			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	141	Poly-Glu.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		gaggaggaagaggaggaagag	0.607													6	22					0	0	0	0	T	220494070	A	T	220494070	3	4	341	1	0	0	0	0	1	0	0	0	14743	304	11	5	432	5	SLC4A3	2	220494070	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	84454	220494070	22705303	116	63997											
SCG2	7857	broad.mit.edu	37	chr2	224462215	224462215	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccttttcttggttgaggtAttccagcactttcattaaca	8	17	7	9	0	2	1	1	1	1	0	3	1	3	1	2	2	3	3	2	2	2	8			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:224462215A>G	ENST00000305409.2	-	2	2018	c.1786T>C	c.(1786-1788)Tac>Cac	p.Y596H		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	596					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGTTGAGGTATTCCAGCACT	0.453													29	146					0	0	0	0	G	224462215	A	G	224462215	3	3	341	1	0	0	0	0	1	0	0	0	13977	449	16	5	71	5	SCG2	2	224462215	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	3968145	224462215	18737158	117	63998											
COL4A3	1285	broad.mit.edu	37	chr2	228118290	228118290	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttagggtgtgaaagggtTaacaggacccccgggaccac	10	8	13	10	1	1	1	0	1	1	0	1	3	1	3	3	4	1	1	3	4	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:228118290T>C	ENST00000396578.3	+	13	863	c.701T>C	c.(700-702)tTa>tCa	p.L234S	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	234	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GTGAAAGGGTTAACAGGACCC	0.433													54	191					0	0	0	0	C	228118290	T	C	228118290	3	2	341	1	0	0	0	0	1	0	0	0	3721	1764	61	5	751	5	COL4A3	2	228118290	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	3656075	228118290	15081083	118	63999											
SPHKAP	80309	broad.mit.edu	37	chr2	228881799	228881799	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagccatctaaagagttGgctttgatgggcacattcac	12	10	10	9	0	2	2	1	1	1	1	2	2	2	2	1	2	1	4	1	2	3	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:228881799G>T	ENST00000392056.3	-	7	3817	c.3771C>A	c.(3769-3771)gcC>gcA	p.A1257A	SPHKAP_ENST00000344657.5_Silent_p.A1257A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1257						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTAAAGAGTTGGCTTTGATGG	0.542													29	75					1.12875e-08	1.3531e-08	1	0	T	228881799	G	T	228881799	2	4	341	1	0	0	0	0	0	0	0	1	15138	1335	47	4		4	SPHKAP	2	228881799	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	763509	228881799	14317574	119	64000											
HDLBP	3069	broad.mit.edu	37	chr2	242169037	242169037	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatcgtttggggccccaaggGagggtcttgggagccacctg	6	9	16	10	1	1	0	0	0	1	0	2	2	1	2	4	5	1	1	4	5	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr2:242169037G>A	ENST00000391975.1	-	28	4013	c.3786C>T	c.(3784-3786)ctC>ctT	p.L1262L	HDLBP_ENST00000427183.2_Silent_p.L1229L|HDLBP_ENST00000310931.4_Silent_p.L1262L|HDLBP_ENST00000391976.2_Silent_p.L1262L	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1262					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGCCCCAAGGGAGGGTCTTGG	0.552													5	41					0	0	0	0	A	242169037	G	A	242169037	2	1	341	1	0	0	0	0	0	0	0	1	7075	1161	41	2		2	HDLBP	2	242169037	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	13287238	242169037	1030336	120	64001											
CHL1	10752	broad.mit.edu	37	chr3	424323	424323	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaagtcagcctagccaGccgtcagaccatcatgaaac	13	5	11	12	1	3	3	3	1	0	2	3	4	3	3	4	1	4	0	4	1	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:424323G>C	ENST00000256509.2	+	18	2787	c.2145G>C	c.(2143-2145)caG>caC	p.Q715H	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.Q699H	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	699	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGCCTAGCCAGCCGTCAGACC	0.433													25	51					0	0	0	0	C	424323	G	C	424323	3	2	341	1	0	0	0	0	1	0	0	0	3378	962	34	4	2207	4	CHL1	3	424323	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08		424323	197598107	121	64002											
RAF1	5894	broad.mit.edu	37	chr3	12660013	12660013	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctaagtagaatgttcacataCcactgttctttgcttgttcg	9	16	7	9	1	2	1	1	0	1	1	3	1	2	1	1	0	2	5	1	0	4	8			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:12660013C>T	ENST00000251849.4	-	2	647		c.e2+1		RAF1_ENST00000442415.2_Splice_Site|RAF1_ENST00000542177.1_Splice_Site	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1						activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	TGTTCACATACCACTGTTCTT	0.408			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				28	55					0	0	0	0	T	12660013	C	T	12660013	5	4	341	1	0	0	0	0	0	0	1	0	13084	521	18	4	1802	4	RAF1	3	12660013	Splice_Site	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	12235690	12660013	185362417	122	64003											
DLEC1	9940	broad.mit.edu	37	chr3	38155897	38155897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgggctgccccatcagctCcctgaggaccacctcctaca	7	7	10	17	0	1	1	1	1	0	0	3	2	3	2	6	3	3	2	6	3	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:38155897C>A	ENST00000308059.6	+	26	3752	c.3731C>A	c.(3730-3732)tCc>tAc	p.S1244Y	DLEC1_ENST00000346219.3_Missense_Mutation_p.S1244Y|DLEC1_ENST00000452631.2_Missense_Mutation_p.S1247Y			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1244					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCATCAGCTCCCTGAGGACC	0.612													12	32					3.07112e-06	3.47131e-06	1	0	A	38155897	C	A	38155897	3	1	341	1	0	0	0	0	1	0	0	0	4589	855	30	2	3833	2	DLEC1	3	38155897	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	25495884	38155897	159866533	123	64004											
ALS2CL	259173	broad.mit.edu	37	chr3	46720728	46720728	+	Frame_Shift_Del	DEL	A	A	-																															tgagggtcaggtccctggtgAaggtgccctcatacagggag																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:46720728delA	ENST00000318962.4	-	15	1681	c.1598delT	c.(1597-1599)tcfs	p.F533fs	ALS2CL_ENST00000415953.1_Frame_Shift_Del_p.F533fs	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	533					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GTCCCTGGTGAAGGTGCCCTC	0.617													2	4	---	---	---	---					-	46720728	A	-	46720728	7	5	341	1	0	1	0	1	0	0	0	0	551	246	9	0	1311	0	ALS2CL	3	46720728	Frame_Shift_Del	DEL	A	TCGA-CV-A461-01A-41D-A25Y-08	8564831	46720728	151301702	124	64005											
SLC25A20	788	broad.mit.edu	37	chr3	48921468	48921468	+	Frame_Shift_Del	DEL	C	C	-																															tgtttctgttgtagtttcttCcccaaaccaaacccaaagaa																								rs148259116	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:48921468delC	ENST00000319017.4	-	3	486	c.288delG	c.(286-288)ggfs	p.G96fs	SLC25A20_ENST00000544097.1_Frame_Shift_Del_p.G46fs|SLC25A20_ENST00000430379.1_Intron	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	96					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	GTAGTTTCTTCCCCAAACCAA	0.512													10	34	---	---	---	---					-	48921468	C	-	48921468	7	5	341	1	0	1	0	1	0	0	0	0	14571	842	30	0	645	0	SLC25A20	3	48921468	Frame_Shift_Del	DEL	C	TCGA-CV-A461-01A-41D-A25Y-08	2200740	48921468	149100962	125	64006											
ROBO2	6092	broad.mit.edu	37	chr3	77147171	77147171	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgttttgtaggatcgcGtcttcgccaggaggactttc	6	14	12	9	3	2	0	1	0	1	0	5	3	2	3	1	3	0	2	1	3	1	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:77147171G>C	ENST00000461745.1	+	2	968	c.68G>C	c.(67-69)cGt>cCt	p.R23P	ROBO2_ENST00000487694.3_Missense_Mutation_p.R39P|ROBO2_ENST00000332191.8_Missense_Mutation_p.R23P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	23					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTAGGATCGCGTCTTCGCCAG	0.507													7	16					0	0	0	0	C	77147171	G	C	77147171	3	2	341	1	0	0	0	0	1	0	0	0	13599	1145	40	3	76	3	ROBO2	3	77147171	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	28225703	77147171	120875259	126	64007											
OR5K4	403278	broad.mit.edu	37	chr3	98072825	98072825	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcaccatggtggggaatcTtggtctggtggcattaattt	7	14	14	6	0	3	0	1	0	2	0	3	1	3	1	1	7	0	1	1	7	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:98072825T>A	ENST00000354924.2	+	1	128	c.128T>A	c.(127-129)cTt>cAt	p.L43H	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GTGGGGAATCTTGGTCTGGTG	0.463													78	341					0	0	0	0	A	98072825	T	A	98072825	3	1	341	1	0	0	0	0	1	0	0	0	11240	1609	56	5	130	5	OR5K4	3	98072825	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	20925654	98072825	99949605	127	64008											
OR5K3	403277	broad.mit.edu	37	chr3	98109825	98109825	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaattttattttctctgtCttgctgaaactacagactgc	10	16	5	10	0	2	2	0	1	2	1	3	2	2	2	0	0	4	1	0	0	4	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:98109825C>G	ENST00000383695.1	+	1	316	c.316C>G	c.(316-318)Ctt>Gtt	p.L106V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TTTTCTCTGTCTTGCTGAAAC	0.438													66	364					0	0	0	0	G	98109825	C	G	98109825	3	3	341	1	0	0	0	0	1	0	0	0	11239	913	32	2	318	2	OR5K3	3	98109825	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	37000	98109825	99912605	128	64009											
IMPG2	50939	broad.mit.edu	37	chr3	100961639	100961639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcattgttgacgttaggaGggacagaattggcaaacttc	11	10	12	8	2	0	2	0	1	0	1	1	4	0	4	1	3	1	4	1	3	3	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:100961639G>A	ENST00000193391.7	-	14	3102	c.2915C>T	c.(2914-2916)cCt>cTt	p.P972L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	972	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GACGTTAGGAGGGACAGAATT	0.428													78	132					0	0	0	0	A	100961639	G	A	100961639	3	1	341	1	0	0	0	0	1	0	0	0	7782	1000	35	4	834	4	IMPG2	3	100961639	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2851814	100961639	97060791	129	64010											
CBLB	868	broad.mit.edu	37	chr3	105377969	105377969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcaatttttgcatcgaCattttccaatgccgcctcag	8	16	6	11	2	1	0	1	0	0	0	3	1	2	0	3	0	3	2	3	0	2	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:105377969C>G	ENST00000264122.4	-	19	3115	c.2794G>C	c.(2794-2796)Gtc>Ctc	p.V932L	CBLB_ENST00000407712.1_Missense_Mutation_p.V147L|CBLB_ENST00000394027.3_Missense_Mutation_p.V910L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	932	UBA.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTTGCATCGACATTTTCCAAT	0.517			Mis S		AML								33	131					0	0	0	0	G	105377969	C	G	105377969	3	3	341	1	0	0	0	0	1	0	0	0	2726	478	17	4	158	4	CBLB	3	105377969	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	4416330	105377969	92644461	130	64011											
CCDC54	84692	broad.mit.edu	37	chr3	107097161	107097161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccaaatatttacatttacCcagacttcagtacatggatc	14	12	5	10	0	1	1	1	0	0	1	2	2	1	2	2	1	4	1	2	1	5	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:107097161C>A	ENST00000261058.1	+	1	974	c.727C>A	c.(727-729)Cca>Aca	p.P243T		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	243										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TTACATTTACCCAGACTTCAG	0.363													24	174					7.87624e-14	1.04475e-13	1	0	A	107097161	C	A	107097161	3	1	341	1	0	0	0	0	1	0	0	0	2851	623	22	4	729	4	CCDC54	3	107097161	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1719192	107097161	90925269	131	64012											
ZBTB20	26137	broad.mit.edu	37	chr3	114058212	114058212	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgtcaccatgtgcttGataaggtaatcctttaagga	10	14	11	6	0	1	1	1	1	0	0	2	2	2	2	2	2	1	2	2	2	3	5	rs148654668		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:114058212G>T	ENST00000462705.1	-	12	2468	c.1647C>A	c.(1645-1647)atC>atA	p.I549I	ZBTB20_ENST00000481632.1_Silent_p.I549I|ZBTB20_ENST00000471418.1_Silent_p.I549I|ZBTB20_ENST00000357258.3_Silent_p.I549I|ZBTB20_ENST00000464560.1_Silent_p.I549I|ZBTB20_ENST00000393785.2_Silent_p.I549I|ZBTB20_ENST00000474710.1_Silent_p.I622I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	622					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CCATGTGCTTGATAAGGTAAT	0.527													23	119					2.39556e-15	3.23884e-15	1	0	T	114058212	G	T	114058212	2	4	341	1	0	0	0	0	0	0	0	1	17624	1280	45	2		2	ZBTB20	3	114058212	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	6961051	114058212	83964218	132	64013											
HGD	3081	broad.mit.edu	37	chr3	120365157	120365157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtggacaccatagacCtccaagatgtagcccctggt	12	8	9	12	0	1	2	1	0	0	2	2	3	2	3	5	2	1	1	5	2	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:120365157C>T	ENST00000283871.5	-	9	1065	c.606G>A	c.(604-606)gaG>gaA	p.E202E		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	202					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CACCATAGACCTCCAAGATGT	0.473													16	91					0	0	0	0	T	120365157	C	T	120365157	2	4	341	1	0	0	0	0	0	0	0	1	7134	680	24	4		4	HGD	3	120365157	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	6306945	120365157	77657273	133	64014											
KLF15	28999	broad.mit.edu	37	chr3	126071727	126071727	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgggcattttggcgaCgagaagttctcgtccactgg	8	10	12	11	3	1	1	0	0	1	1	3	3	2	1	2	3	1	2	2	3	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:126071727C>A	ENST00000296233.3	-	2	269	c.39G>T	c.(37-39)tcG>tcT	p.S13S	KLF15_ENST00000509675.1_5'UTR	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	13						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		ATTTTGGCGACGAGAAGTTCT	0.597													7	33					3.09899e-07	3.59222e-07	1	0	A	126071727	C	A	126071727	2	1	341	1	0	0	0	0	0	0	0	1	8395	523	19	3		3	KLF15	3	126071727	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	5706570	126071727	71950703	134	64015											
PODXL2	50512	broad.mit.edu	37	chr3	127388033	127388033	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgctgggtgacatccgcagGagcctggaggaggtaagagt	10	7	17	7	1	0	2	0	1	0	1	1	5	1	5	2	5	2	3	2	5	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:127388033G>C	ENST00000342480.6	+	6	1452	c.1413G>C	c.(1411-1413)agG>agC	p.R471S		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	471					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						ACATCCGCAGGAGCCTGGAGG	0.567													3	23					0	0	0	0	C	127388033	G	C	127388033	3	2	341	1	0	0	0	0	1	0	0	0	12253	1165	41	2	1435	2	PODXL2	3	127388033	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1316306	127388033	70634397	135	64016											
COL6A6	131873	broad.mit.edu	37	chr3	130368271	130368271	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacacacgagaaaaatCgccacatttttcagcagcgg	13	6	11	11	3	1	1	1	0	0	1	2	2	1	1	1	3	2	2	1	3	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:130368271C>A	ENST00000358511.6	+	32	5629	c.5598C>A	c.(5596-5598)atC>atA	p.I1866I	COL6A6_ENST00000453409.2_Silent_p.I1866I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1866	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGAGAAAAATCGCCACATTTT	0.552													6	36					3.59834e-05	3.9459e-05	1	0	A	130368271	C	A	130368271	2	1	341	1	0	0	0	0	0	0	0	1	3733	874	31	3		3	COL6A6	3	130368271	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2980238	130368271	67654159	136	64017											
SLCO2A1	6578	broad.mit.edu	37	chr3	133667522	133667522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagagtgagttcatcaggagCctcagaaagatgcatggaaa	16	7	12	6	0	3	4	3	1	0	3	3	6	3	6	1	2	2	2	1	2	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:133667522C>A	ENST00000310926.4	-	8	1236	c.963G>T	c.(961-963)agG>agT	p.R321S	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R245S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	321					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	p.R321R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TCATCAGGAGCCTCAGAAAGA	0.582													34	165					2.68265e-12	3.45292e-12	1	0	A	133667522	C	A	133667522	3	1	341	1	0	0	0	0	1	0	0	0	14814	738	26	4	996	4	SLCO2A1	3	133667522	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3299251	133667522	64354908	137	64018											
KY	339855	broad.mit.edu	37	chr3	134322426	134322426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accggggcacagccctcactGggcattcactttgtatttca	8	11	9	13	1	3	0	3	0	0	0	3	0	3	0	2	3	1	3	2	3	1	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:134322426G>T	ENST00000508956.1	-	10	1975	c.1918C>A	c.(1918-1920)Cag>Aag	p.Q640K	KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Missense_Mutation_p.Q661K			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	561						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGCCCTCACTGGGCATTCACT	0.572													30	202					1.13719e-10	1.42982e-10	1	0	T	134322426	G	T	134322426	3	4	341	1	0	0	0	0	1	0	0	0	8639	1357	47	4	8	4	KY	3	134322426	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	654904	134322426	63700004	138	64019											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721181	135721181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaactgtctatatgaatGtaatgaccaggttagcatcc	13	12	8	8	0	1	3	0	3	1	0	2	3	2	3	2	1	2	3	2	1	6	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:135721181G>A	ENST00000264977.3	+	2	1458	c.841G>A	c.(841-843)Gta>Ata	p.V281I	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	281					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTATATGAATGTAATGACCAG	0.343													21	99					0	0	0	0	A	135721181	G	A	135721181	3	1	341	1	0	0	0	0	1	0	0	0	12464	1377	48	4	843	4	PPP2R3A	3	135721181	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1398755	135721181	62301249	139	64020											
TRPC1	7220	broad.mit.edu	37	chr3	142509879	142509879	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggatgatttggtcagacaTtaaaagactctggtatgaag	14	11	12	4	0	2	4	1	2	1	2	2	5	2	5	0	3	0	1	0	3	4	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:142509879T>G	ENST00000273482.6	+	7	1605	c.1214T>G	c.(1213-1215)aTt>aGt	p.I405S	TRPC1_ENST00000476941.1_Missense_Mutation_p.I439S	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	439					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGGTCAGACATTAAAAGACTC	0.308													19	74					0	0	0	0	G	142509879	T	G	142509879	3	3	341	1	0	0	0	0	1	0	0	0	16673	1493	52	5	1240	5	TRPC1	3	142509879	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	6788698	142509879	55512551	140	64021											
PLSCR2	57047	broad.mit.edu	37	chr3	146173113	146173113	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgacccacattatcagtaatCctcaaggtaaaaggtctaga	15	9	7	10	1	3	1	2	0	1	1	4	2	4	1	2	2	0	2	2	2	6	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:146173113C>G	ENST00000497985.1	-	6	892	c.453G>C	c.(451-453)agG>agC	p.R151S	PLSCR2_ENST00000336685.2_Missense_Mutation_p.R78S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	78					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TATCAGTAATCCTCAAGGTAA	0.428													73	96					0	0	0	0	G	146173113	C	G	146173113	3	3	341	1	0	0	0	0	1	0	0	0	12182	854	30	2	456	2	PLSCR2	3	146173113	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3663234	146173113	51849317	141	64022											
ZIC4	84107	broad.mit.edu	37	chr3	147108788	147108788	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgggacttgtggccgcagtCcgacgagggcgacacgaggg	7	5	18	11	5	0	0	0	0	0	0	1	5	1	1	2	4	0	1	2	4	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:147108788C>G	ENST00000383075.3	-	4	1446	c.934G>C	c.(934-936)Gac>Cac	p.D312H	ZIC4_ENST00000525172.2_Missense_Mutation_p.D362H|ZIC4_ENST00000473123.1_Missense_Mutation_p.D312H|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Missense_Mutation_p.D312H|ZIC4_ENST00000425731.3_Missense_Mutation_p.D350H|ZIC4_ENST00000491672.1_Missense_Mutation_p.D106H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	312						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGGCCGCAGTCCGACGAGGGC	0.687													11	40					0	0	0	0	G	147108788	C	G	147108788	3	3	341	1	0	0	0	0	1	0	0	0	17776	855	30	2	78	2	ZIC4	3	147108788	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	935675	147108788	50913642	142	64023											
ZIC1	7545	broad.mit.edu	37	chr3	147127985	147127985	+	Frame_Shift_Del	DEL	C	C	-																															ccactccgcgggcgacgtggCcgaacgagacgtgggcctgg																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:147127985delC	ENST00000282928.4	+	1	815	c.86delC	c.(85-87)gcfs	p.A29fs		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	29					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCGACGTGGCCGAACGAGAC	0.711													7	71	---	---	---	---					-	147127985	C	-	147127985	7	5	341	1	0	1	0	1	0	0	0	0	17773	739	26	0	88	0	ZIC1	3	147127985	Frame_Shift_Del	DEL	C	TCGA-CV-A461-01A-41D-A25Y-08	19197	147127985	50894445	143	64024											
SMC4	10051	broad.mit.edu	37	chr3	160120629	160120629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagagttgtacagtagaaGttcattttcaaaagataatt	15	15	7	4	0	3	3	3	0	0	3	3	3	3	3	0	0	1	4	0	0	6	9			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:160120629G>T	ENST00000357388.3	+	4	935	c.484G>T	c.(484-486)Gtt>Ttt	p.V162F	SMC4_ENST00000470240.1_3'UTR|SMC4_ENST00000360111.2_Missense_Mutation_p.V162F|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.V162F|SMC4_ENST00000469762.1_Missense_Mutation_p.V137F|SMC4_ENST00000344722.5_Missense_Mutation_p.V162F	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	162					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TACAGTAGAAGTTCATTTTCA	0.289													22	113					1.55795e-14	2.08808e-14	1	0	T	160120629	G	T	160120629	3	4	341	1	0	0	0	0	1	0	0	0	14873	1029	36	4	494	4	SMC4	3	160120629	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	12992644	160120629	37901801	144	64025											
SI	6476	broad.mit.edu	37	chr3	164704925	164704925	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctactaaatcgagcactcaCctatactctctccatcatcc	11	12	2	16	1	4	0	2	0	2	0	8	1	6	0	3	0	3	1	3	0	5	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:164704925C>A	ENST00000264382.3	-	45	5260		c.e45+1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CGAGCACTCACCTATACTCTC	0.358										HNSCC(35;0.089)			24	111					6.21321e-17	8.65812e-17	1	0	A	164704925	C	A	164704925	5	1	341	1	0	0	0	0	0	0	1	0	14385	521	18	4	301	4	SI	3	164704925	Splice_Site	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	4584296	164704925	33317505	145	64026											
SI	6476	broad.mit.edu	37	chr3	164727128	164727128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatttctctggcccacCactctgctgtggaagtcctg	7	11	8	15	0	2	0	0	0	2	0	4	1	3	1	4	2	1	1	4	2	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:164727128C>A	ENST00000264382.3	-	35	4180	c.4118G>T	c.(4117-4119)tGg>tTg	p.W1373L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1373	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTGGCCCACCACTCTGCTGT	0.378										HNSCC(35;0.089)			15	86					2.61681e-11	3.32814e-11	1	0	A	164727128	C	A	164727128	3	1	341	1	0	0	0	0	1	0	0	0	14385	595	21	4	1421	4	SI	3	164727128	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	22203	164727128	33295302	146	64027											
PIK3CA	5290	broad.mit.edu	37	chr3	178952086	178952086	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaatgaatgatgcacaTcatggtggctggacaacaaa	18	7	9	7	0	1	2	1	2	0	0	1	3	1	3	0	3	3	2	0	3	5	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:178952086T>A	ENST00000263967.3	+	21	3298	c.3141T>A	c.(3139-3141)caT>caA	p.H1047Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047Q(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATGATGCACATCATGGTGGCT	0.373		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			60	80					0	0	0	0	A	178952086	T	A	178952086	3	1	341	1	0	0	0	0	1	0	0	0	11985	1432	50	5	3219	5	PIK3CA	3	178952086	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	14224958	178952086	19070344	147	64028											
KCNMB3	27094	broad.mit.edu	37	chr3	178968722	178968722	+	Frame_Shift_Del	DEL	C	C	-																															cctgaggcaggaaaggctgtCctttggggaaagggagaagg																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:178968722delC	ENST00000392685.2	-	1	696	c.57delG	c.(55-57)agfs	p.R19fs	KCNMB3_ENST00000497599.1_Splice_Site_p.R21_splice|KCNMB3_ENST00000485523.1_Start_Codon_Del|KCNMB3_ENST00000349697.2_Splice_Site_p.R21_splice|KCNMB3_ENST00000314235.5_Splice_Site_p.R23_splice	NM_171830.1	NP_741981.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	23					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			GAAAGGCTGTCCTTTGGGGAA	0.517													29	114	---	---	---	---					-	178968722	C	-	178968722	7	5	341	1	0	1	0	1	0	0	0	0	8129	869	30	0	855	0	KCNMB3	3	178968722	Frame_Shift_Del	DEL	C	TCGA-CV-A461-01A-41D-A25Y-08	16636	178968722	19053708	148	64029											
MFN1	55669	broad.mit.edu	37	chr3	179082104	179082104	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccaggcacagatgtcactAcagagctggatagctggatt	11	9	12	9	0	1	2	1	0	0	2	2	4	2	4	1	3	3	3	1	3	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:179082104A>G	ENST00000471841.1	+	6	682	c.556A>G	c.(556-558)Aca>Gca	p.T186A	MFN1_ENST00000263969.5_Missense_Mutation_p.T186A|MFN1_ENST00000280653.7_Missense_Mutation_p.T186A	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	186					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGATGTCACTACAGAGCTGGA	0.323													12	95					0	0	0	0	G	179082104	A	G	179082104	3	3	341	1	0	0	0	0	1	0	0	0	9592	391	14	5	574	5	MFN1	3	179082104	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	113382	179082104	18940326	149	64030											
PEX5L	51555	broad.mit.edu	37	chr3	179605490	179605490	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggatgttactggccttgctAttgcttccgatttggtttca	5	18	10	8	1	1	0	1	0	0	0	2	2	2	1	2	3	3	4	2	3	2	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:179605490A>T	ENST00000467460.1	-	4	611	c.281T>A	c.(280-282)aTa>aAa	p.I94K	PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000485199.1_Missense_Mutation_p.I59K|PEX5L_ENST00000476138.1_Missense_Mutation_p.I51K|PEX5L_ENST00000472994.1_Missense_Mutation_p.I35K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.I70K|PEX5L_ENST00000464614.1_Missense_Mutation_p.I51K|PEX5L_ENST00000392649.3_Missense_Mutation_p.I51K|PEX5L_ENST00000263962.8_Missense_Mutation_p.I92K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	94					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGGCCTTGCTATTGCTTCCGA	0.403													62	239					0	0	0	0	T	179605490	A	T	179605490	3	4	341	1	0	0	0	0	1	0	0	0	11821	449	16	5	1647	5	PEX5L	3	179605490	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	523386	179605490	18416940	150	64031											
CCDC39	339829	broad.mit.edu	37	chr3	180372658	180372658	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctcaaactctgtgttattCccaatctcactttccaaaaa	12	15	2	12	0	3	0	2	0	3	0	7	0	5	0	2	0	1	1	2	0	5	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:180372658C>A	ENST00000273654.4	-	13	1693	c.1074G>T	c.(1072-1074)ggG>ggT	p.G358G	CCDC39_ENST00000442201.2_Silent_p.G274G			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	274					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTGTGTTATTCCCAATCTCAC	0.333													30	33					9.80776e-20	1.41261e-19	1	0	A	180372658	C	A	180372658	2	1	341	1	0	0	0	0	0	0	0	1	2837	842	30	2		2	CCDC39	3	180372658	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	767168	180372658	17649772	151	64032											
MAGEF1	64110	broad.mit.edu	37	chr3	184429442	184429442	+	Frame_Shift_Del	DEL	C	C	-																															gccaaggccctcgcgcctttCcgggtgagggcgggctccgc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:184429442delC	ENST00000317897.3	-	1	394	c.168delG	c.(166-168)cgfs	p.R56fs		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	56										breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			TCGCGCCTTTCCGGGTGAGGG	0.716													10	76	---	---	---	---					-	184429442	C	-	184429442	7	5	341	1	0	1	0	1	0	0	0	0	9256	842	30	0	759	0	MAGEF1	3	184429442	Frame_Shift_Del	DEL	C	TCGA-CV-A461-01A-41D-A25Y-08	4056784	184429442	13592988	152	64033											
TP63	8626	broad.mit.edu	37	chr3	189607208	189607208	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggcactccctcccccactCtccatgccatccacctccca	7	7	3	24	0	1	0	0	0	1	0	6	0	5	0	8	1	1	1	8	1	0	0	rs141847552	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:189607208C>T	ENST00000264731.3	+	12	1676	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	TP63_ENST00000392461.3_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000392460.3_Silent_p.L529L|TP63_ENST00000456148.1_Silent_p.L431L|TP63_ENST00000354600.5_Silent_p.L435L|TP63_ENST00000392463.2_Silent_p.L435L|TP63_ENST00000449992.1_Silent_p.L350L|TP63_ENST00000382063.4_Silent_p.L444L|TP63_ENST00000440651.2_Silent_p.L525L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	529					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTCCCCCACTCTCCATGCCAT	0.612										HNSCC(45;0.13)			5	106					0	0	0	0	T	189607208	C	T	189607208	2	4	341	1	0	0	0	0	0	0	0	1	16487	900	32	2		2	TP63	3	189607208	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	5177766	189607208	8415222	153	64034											
PYDC2	152138	broad.mit.edu	37	chr3	191179008	191179008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcttctggagcagctcagCcaggatgagttgagcaagtt	9	10	13	9	0	3	2	1	2	2	0	3	4	3	4	1	2	4	6	1	2	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:191179008C>A	ENST00000518817.1	+	1	57	c.57C>A	c.(55-57)agC>agA	p.S19R		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	19	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AGCAGCTCAGCCAGGATGAGT	0.542													21	136					3.51602e-12	4.51641e-12	1	0	A	191179008	C	A	191179008	3	1	341	1	0	0	0	0	1	0	0	0	12941	738	26	4	59	4	PYDC2	3	191179008	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1571800	191179008	6843422	154	64035											
LSG1	55341	broad.mit.edu	37	chr3	194365411	194365411	+	Frame_Shift_Del	DEL	T	T	-																															ttttgttctctaggagtcgcTggtgttgatgctgaaaagtt																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:194365411delT	ENST00000265245.5	-	13	2002	c.1688delA	c.(1687-1689)cgfs	p.Q563fs	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	563					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TAGGAGTCGCTGGTGTTGATG	0.398													11	51	---	---	---	---					-	194365411	T	-	194365411	7	5	341	1	0	1	0	1	0	0	0	0	9113	1580	55	0	296	0	LSG1	3	194365411	Frame_Shift_Del	DEL	T	TCGA-CV-A461-01A-41D-A25Y-08	3186403	194365411	3657019	155	64036											
TFRC	7037	broad.mit.edu	37	chr3	195798986	195798986	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcatctttttgagatcCagcctcacgagggacatatg	10	14	8	9	1	3	1	2	1	1	1	4	4	4	2	2	1	1	0	2	1	1	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:195798986C>A	ENST00000360110.4	-	5	641	c.472G>T	c.(472-474)Gga>Tga	p.G158*	TFRC_ENST00000420415.1_Nonsense_Mutation_p.G77*|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000392396.3_Nonsense_Mutation_p.G158*	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	158					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TTTTGAGATCCAGCCTCACGA	0.333			T	BCL6	NHL								32	111					1.80694e-10	2.25722e-10	1	0	A	195798986	C	A	195798986	4	1	341	1	0	0	0	0	0	1	0	0	15906	603	21	4	1870	4	TFRC	3	195798986	Nonsense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1433575	195798986	2223444	156	64037											
LMLN	89782	broad.mit.edu	37	chr3	197687095	197687095	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggcgtcacgcactccatGgtaacgacgctcggcccgaa	10	5	12	14	6	1	1	1	0	0	1	3	3	2	1	2	3	1	3	2	3	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr3:197687095G>T	ENST00000330198.4	+	1	25	c.3G>T	c.(1-3)atG>atT	p.M1I	LMLN_ENST00000420910.2_Start_Codon_SNP_p.M1I|LMLN_ENST00000482695.1_5'UTR	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	1					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CGCACTCCATGGTAACGACGC	0.736													12	53					1.08611e-07	1.27042e-07	1	0	T	197687095	G	T	197687095	1	4	341	1	0	0	0	0	0	0	0	0	8902	1348	47	4		4	LMLN	3	197687095	Translation_Start_Site	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1888109	197687095	335335	157	64038											
FAM193A	8603	broad.mit.edu	37	chr4	2661771	2661771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctcacagacagtggctcgGcaccaactttgtaagttgtg	9	11	10	11	1	1	1	1	0	0	1	3	1	2	1	2	2	1	4	2	2	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:2661771G>A	ENST00000324666.5	+	8	1213	c.862G>A	c.(862-864)Gca>Aca	p.A288T	FAM193A_ENST00000382839.3_Missense_Mutation_p.A288T|FAM193A_ENST00000505311.1_Missense_Mutation_p.A288T|FAM193A_ENST00000502458.1_Missense_Mutation_p.A312T|FAM193A_ENST00000545951.1_Missense_Mutation_p.A288T	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	288										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAGTGGCTCGGCACCAACTTT	0.493													15	41					0	0	0	0	A	2661771	G	A	2661771	3	1	341	1	0	0	0	0	1	0	0	0	5567	1203	42	4	884	4	FAM193A	4	2661771	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08		2661771	188492505	158	64039											
OTOP1	133060	broad.mit.edu	37	chr4	4190672	4190672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccattgtcatactcaggtCgacagccaaaggcgggaggt	11	8	12	10	2	2	0	2	0	0	0	4	2	3	1	2	4	2	0	2	4	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:4190672C>A	ENST00000296358.4	-	6	1721	c.1697G>T	c.(1696-1698)cGa>cTa	p.R566L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	566					biomineral tissue development	extracellular space|integral to membrane		p.R566Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATACTCAGGTCGACAGCCAAA	0.502													9	68					5.4927e-09	6.63594e-09	1	0	A	4190672	C	A	4190672	3	1	341	1	0	0	0	0	1	0	0	0	11376	884	31	3	145	3	OTOP1	4	4190672	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1528901	4190672	186963604	159	64040											
C4orf6	10141	broad.mit.edu	37	chr4	5527209	5527209	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactatggacggaaatccaGgagagctgaccttggtaaga	14	7	12	8	1	0	3	0	1	0	2	1	6	1	5	2	4	1	2	2	4	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:5527209G>C	ENST00000195455.2	+	1	327	c.152G>C	c.(151-153)aGg>aCg	p.R51T	C4orf6_ENST00000515342.1_3'UTR	NM_005750.2	NP_005741.1	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	51					nervous system development					large_intestine(1)|prostate(1)	2						cggaaatccaggagagctgac	0.428													14	45					0	0	0	0	C	5527209	G	C	5527209	3	2	341	1	0	0	0	0	1	0	0	0	2299	1000	35	4	154	4	C4orf6	4	5527209	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1336537	5527209	185627067	160	64041											
LDB2	9079	broad.mit.edu	37	chr4	16760850	16760850	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcttcaaaaaattcagTggcaaaggcgtcccaccaga	14	8	8	11	1	4	1	3	0	1	1	5	1	5	1	2	2	0	1	2	2	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:16760850T>A	ENST00000502640.1	-	2	314	c.166A>T	c.(166-168)Act>Tct	p.T56S	LDB2_ENST00000304523.5_Missense_Mutation_p.T56S|LDB2_ENST00000515064.1_Missense_Mutation_p.T56S|LDB2_ENST00000441778.2_Missense_Mutation_p.T56S			O43679	LDB2_HUMAN	LIM domain binding 2	56							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AAAAATTCAGTGGCAAAGGCG	0.373													20	55					0	0	0	0	A	16760850	T	A	16760850	3	1	341	1	0	0	0	0	1	0	0	0	8749	1696	59	5	1092	5	LDB2	4	16760850	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	11233641	16760850	174393426	161	64042											
SOD3	6649	broad.mit.edu	37	chr4	24801457	24801457	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagggcttcccgaccgAgccgaacagctccagccgcg	7	4	13	17	5	0	0	0	0	0	0	2	4	2	1	6	2	4	2	6	2	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:24801457A>T	ENST00000382120.3	+	2	519	c.314A>T	c.(313-315)gAg>gTg	p.E105V		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	105					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				TTCCCGACCGAGCCGAACAGC	0.731													4	19					0	0	0	0	T	24801457	A	T	24801457	3	4	341	1	0	0	0	0	1	0	0	0	15010	304	11	5	316	5	SOD3	4	24801457	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	8040607	24801457	166352819	162	64043											
PCDH7	5099	broad.mit.edu	37	chr4	30723990	30723990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagagcgtgtacgaggccGacttggctgagaacagcgcc	11	5	15	10	4	0	3	0	1	0	3	0	6	0	3	2	2	4	2	2	2	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:30723990G>T	ENST00000361762.2	+	1	1954	c.946G>T	c.(946-948)Gac>Tac	p.D316Y	PCDH7_ENST00000543491.1_Missense_Mutation_p.D316Y	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	316	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GTACGAGGCCGACTTGGCTGA	0.672													6	33					0.217242	0.217806	1	0	T	30723990	G	T	30723990	3	4	341	1	0	0	0	0	1	0	0	0	11587	1058	37	3	948	3	PCDH7	4	30723990	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	5922533	30723990	160430286	163	64044											
UGDH	7358	broad.mit.edu	37	chr4	39507278	39507278	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgaatgcaaatcccaaaaTagctatcttcttatcagtta	14	15	4	8	0	3	1	1	1	2	0	4	1	4	1	1	0	2	3	1	0	8	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:39507278T>A	ENST00000316423.6	-	8	1339	c.997A>T	c.(997-999)Att>Ttt	p.I333F	UGDH_ENST00000501493.2_Missense_Mutation_p.I266F|UGDH_ENST00000507089.1_Missense_Mutation_p.I236F|UGDH_ENST00000506179.1_Missense_Mutation_p.I333F	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	333					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.I333V(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	AATCCCAAAATAGCTATCTTC	0.348													35	141					0	0	0	0	A	39507278	T	A	39507278	3	1	341	1	0	0	0	0	1	0	0	0	17036	1406	49	5	507	5	UGDH	4	39507278	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	8783288	39507278	151646998	164	64045											
SHISA3	152573	broad.mit.edu	37	chr4	42403267	42403267	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagctccagctccacaggCggctccatccgcaggttctc	7	7	10	17	3	1	0	0	0	1	0	6	1	5	0	4	3	2	5	4	3	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:42403267C>G	ENST00000319234.4	+	2	734	c.516C>G	c.(514-516)ggC>ggG	p.G172G		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	172					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GCTCCACAGGCGGCTCCATCC	0.672													48	163					0	0	0	0	G	42403267	C	G	42403267	2	3	341	1	0	0	0	0	0	0	0	1	14369	755	27	3		3	SHISA3	4	42403267	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2895989	42403267	148751009	165	64046											
GABRG1	2565	broad.mit.edu	37	chr4	46053585	46053585	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagatccatcgcagtcacAtaagaaaccttaggtaaaga	18	7	8	8	1	1	3	1	0	0	3	3	4	2	3	2	1	1	2	2	1	6	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:46053585A>T	ENST00000295452.4	-	8	1154	c.987T>A	c.(985-987)taT>taA	p.Y329*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	329					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCGCAGTCACATAAGAAACCT	0.378													22	52					0	0	0	0	T	46053585	A	T	46053585	4	4	341	1	0	0	0	0	0	1	0	0	6219	224	8	5	418	5	GABRG1	4	46053585	Nonsense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	3650318	46053585	145100691	166	64047											
GABRA4	2557	broad.mit.edu	37	chr4	46930548	46930548	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatagaagtaggagaagcAgatggaagtgctcttgctgc	12	8	15	6	1	1	3	0	0	1	3	1	6	1	5	0	3	4	4	0	3	5	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:46930548A>C	ENST00000264318.3	-	9	2341	c.1359T>G	c.(1357-1359)tcT>tcG	p.S453S		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	453					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TAGGAGAAGCAGATGGAAGTG	0.473													16	99					0	0	0	0	C	46930548	A	C	46930548	2	2	341	1	0	0	0	0	0	0	0	1	6211	175	7	5		5	GABRA4	4	46930548	Silent	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	876963	46930548	144223728	167	64048											
GABRB1	2560	broad.mit.edu	37	chr4	47322160	47322160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagaatcacaaccacagctGcatgtatgatggatcttcga	13	10	8	10	1	3	2	2	1	1	1	4	4	3	3	1	1	3	3	1	1	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:47322160G>T	ENST00000295454.3	+	5	770	c.478G>T	c.(478-480)Gca>Tca	p.A160S	GABRB1_ENST00000538619.1_Missense_Mutation_p.A90S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	160					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AACCACAGCTGCATGTATGAT	0.418													15	61					1.15088e-07	1.34211e-07	1	0	T	47322160	G	T	47322160	3	4	341	1	0	0	0	0	1	0	0	0	6214	1319	46	4	496	4	GABRB1	4	47322160	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	391612	47322160	143832116	168	64049											
GABRB1	2560	broad.mit.edu	37	chr4	47405444	47405444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaattgttgactacaagatGgtgtctaagaaggtggagtt	12	13	12	4	0	2	3	1	1	1	2	2	4	2	4	0	3	1	2	0	3	5	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:47405444G>A	ENST00000295454.3	+	6	946	c.654G>A	c.(652-654)atG>atA	p.M218I	GABRB1_ENST00000538619.1_Missense_Mutation_p.M148I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	218					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACTACAAGATGGTGTCTAAGA	0.418													23	83					0	0	0	0	A	47405444	G	A	47405444	3	1	341	1	0	0	0	0	1	0	0	0	6214	1348	47	4	676	4	GABRB1	4	47405444	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	83284	47405444	143748832	169	64050											
ATP10D	57205	broad.mit.edu	37	chr4	47538840	47538840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagccctgaacatcgccgaGgatctgggacagattcagta	11	7	12	11	3	2	2	1	1	1	1	3	6	2	4	2	2	2	1	2	2	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:47538840G>A	ENST00000273859.3	+	9	1550	c.1281G>A	c.(1279-1281)gaG>gaA	p.E427E	ATP10D_ENST00000504445.1_Silent_p.E412E	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	427					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACATCGCCGAGGATCTGGGAC	0.403													11	56					0	0	0	0	A	47538840	G	A	47538840	2	1	341	1	0	0	0	0	0	0	0	1	1122	991	35	4		4	ATP10D	4	47538840	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	133396	47538840	143615436	170	64051											
SLAIN2	57606	broad.mit.edu	37	chr4	48379990	48379990	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttacagtccaaatgccagtAgcccatacagcagtggcttc	11	9	8	13	0	0	0	0	0	0	0	2	0	1	0	3	1	5	3	3	1	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:48379990A>C	ENST00000264313.6	+	3	1034	c.616A>C	c.(616-618)Agc>Cgc	p.S206R	SLAIN2_ENST00000512093.1_Missense_Mutation_p.S13R|SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	206						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						AAATGCCAGTAGCCCATACAG	0.418													24	98					0	0	0	0	C	48379990	A	C	48379990	3	2	341	1	0	0	0	0	1	0	0	0	14454	420	15	5	626	5	SLAIN2	4	48379990	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	841150	48379990	142774286	171	64052											
SLC10A4	201780	broad.mit.edu	37	chr4	48490599	48490599	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcaggttatggtttagcTactctcttccatcttccacc	6	16	6	13	0	3	0	1	0	2	0	6	0	5	0	3	2	2	4	3	2	3	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:48490599T>A	ENST00000273861.4	+	3	1176	c.957T>A	c.(955-957)gcT>gcA	p.A319A		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	319						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						ATGGTTTAGCTACTCTCTTCC	0.458													48	172					0	0	0	0	A	48490599	T	A	48490599	2	1	341	1	0	0	0	0	0	0	0	1	14464	1509	53	5		5	SLC10A4	4	48490599	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	110609	48490599	142663677	172	64053											
PDGFRA	5156	broad.mit.edu	37	chr4	55156535	55156535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccatcctgctgtggcacGcatgcgtgtggactcagaca	8	9	12	12	2	1	2	1	1	0	1	2	3	2	3	2	2	2	3	2	2	0	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:55156535G>A	ENST00000257290.5	+	22	3267	c.2936G>A	c.(2935-2937)cGc>cAc	p.R979H	FIP1L1_ENST00000507166.1_Missense_Mutation_p.R739H	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	979					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GCTGTGGCACGCATGCGTGTG	0.438			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			26	94					0	0	0	0	A	55156535	G	A	55156535	3	1	341	1	0	0	0	0	1	0	0	0	11732	1087	38	1	3018	1	PDGFRA	4	55156535	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	6665936	55156535	135997741	173	64054											
KDR	3791	broad.mit.edu	37	chr4	55964424	55964424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacaagtagcctgtcttcaGttcccctccattggcctgga	7	11	10	13	0	2	0	1	0	1	0	4	2	4	2	5	3	1	2	5	3	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:55964424G>T	ENST00000263923.4	-	17	2684	c.2389C>A	c.(2389-2391)Ctg>Atg	p.L797M		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	797					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCTGTCTTCAGTTCCCCTCCA	0.458			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			13	57					0.00010058	0.000108903	1	0	T	55964424	G	T	55964424	3	4	341	1	0	0	0	0	1	0	0	0	8191	1020	36	4	1737	4	KDR	4	55964424	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	807889	55964424	135189852	174	64055											
SRD5A3	79644	broad.mit.edu	37	chr4	56212587	56212587	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaccgccgccttcctgctGaccctactgctgcagctcct	4	10	8	19	2	0	2	0	2	0	0	2	2	2	2	6	0	5	4	6	0	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:56212587G>A	ENST00000264228.4	+	1	312	c.84G>A	c.(82-84)ctG>ctA	p.L28L		NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	28					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			CCTTCCTGCTGACCCTACTGC	0.716													6	14					0	0	0	0	A	56212587	G	A	56212587	2	1	341	1	0	0	0	0	0	0	0	1	15230	1277	45	2		2	SRD5A3	4	56212587	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	248163	56212587	134941689	175	64056											
HOPX	84525	broad.mit.edu	37	chr4	57514899	57514899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catctccttagtctgtgacgGatctgcactctgagggcagg	7	11	12	11	1	4	2	0	2	4	0	5	3	4	3	1	3	1	2	1	3	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:57514899G>A	ENST00000337881.7	-	3	865	c.209C>T	c.(208-210)tCc>tTc	p.S70F	HOPX_ENST00000503639.3_Missense_Mutation_p.S70F|HOPX_ENST00000381255.3_Missense_Mutation_p.S70F|HOPX_ENST00000554144.1_3'UTR|HOPX_ENST00000420433.1_Missense_Mutation_p.S88F|HOPX_ENST00000556376.2_Missense_Mutation_p.S70F|HOPX_ENST00000317745.7_Missense_Mutation_p.S70F|HOPX_ENST00000508121.1_Missense_Mutation_p.S88F|HOPX_ENST00000381260.3_3'UTR|HOPX_ENST00000555760.2_Missense_Mutation_p.S70F|HOPX_ENST00000553379.2_Missense_Mutation_p.S70F|HOPX_ENST00000556614.2_Missense_Mutation_p.S70F	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	70					negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					GTCTGTGACGGATCTGCACTC	0.493													23	124					0	0	0	0	A	57514899	G	A	57514899	3	1	341	1	0	0	0	0	1	0	0	0	7335	1174	41	2	16	2	HOPX	4	57514899	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1302312	57514899	133639377	176	64057											
POLR2B	5431	broad.mit.edu	37	chr4	57891562	57891563	+	Frame_Shift_Ins	INS	-	-	T																															gtcctgtacaatgggttcacINStggtcgaaaaatcacatcac																								rs77059714		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:57891562_57891563insT	ENST00000381227.1	+	24	3511_3512	c.3098_3099insT	c.(3097-3099)aggfs	p.R1033fs	POLR2B_ENST00000441246.2_Frame_Shift_Ins_p.R1026fs|POLR2B_ENST00000314595.5_Frame_Shift_Ins_p.R1033fs|POLR2B_ENST00000431623.2_Frame_Shift_Ins_p.R958fs			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1033					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AATGGGTTCACTGGTCGAAAAA	0.381													40	154	---	---	---	---					T	57891563	-	T	57891562	7	5	341	1	0	1	1	0	0	0	0	0	12287	565	20	0	3188	0	POLR2B	4	57891562	Frame_Shift_Ins	INS	-	TCGA-CV-A461-01A-41D-A25Y-08	376663	57891562	133262714	177	64058											
TECRL	253017	broad.mit.edu	37	chr4	65188508	65188508	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtccttcaaaaaaggccCgcctaaaataaaaataacaa	20	7	5	9	1	1	0	1	0	0	0	2	0	2	0	3	1	1	1	3	1	11	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:65188508C>G	ENST00000381210.3	-	4	444	c.334G>C	c.(334-336)Ggg>Cgg	p.G112R	TECRL_ENST00000507440.1_Missense_Mutation_p.G112R	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	112					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AAAAAAGGCCCGCCtaaaata	0.323													6	29					0	0	0	0	G	65188508	C	G	65188508	3	3	341	1	0	0	0	0	1	0	0	0	15840	652	23	3	793	3	TECRL	4	65188508	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	7296946	65188508	125965768	178	64059											
EPHA5	2044	broad.mit.edu	37	chr4	66201718	66201718	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttgtccaacatgttgacTatttcatcaaacttgggcct	10	14	7	10	0	2	1	2	1	0	0	3	1	3	1	2	1	3	2	2	1	3	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:66201718T>A	ENST00000273854.3	-	16	3384	c.2784A>T	c.(2782-2784)atA>atT	p.I928I	EPHA5_ENST00000354839.4_Silent_p.I906I|EPHA5_ENST00000511294.1_Silent_p.I929I|EPHA5_ENST00000432638.2_Silent_p.I765I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	928	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACATGTTGACTATTTCATCAA	0.473										TSP Lung(17;0.13)			24	79					0	0	0	0	A	66201718	T	A	66201718	2	1	341	1	0	0	0	0	0	0	0	1	5208	1512	53	5		5	EPHA5	4	66201718	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	1013210	66201718	124952558	179	64060											
UGT2B4	7363	broad.mit.edu	37	chr4	70361130	70361130	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggggaaaacagcatcTgcaagaacaacatcaaatct	19	5	7	10	0	3	1	1	0	2	1	3	2	3	2	1	2	5	2	1	2	7	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:70361130T>C	ENST00000381096.3	-	2	328		c.e2-2		UGT2B4_ENST00000305107.6_Silent_p.A150A|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.A150A			P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4						estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AAACAGCATCTGCAAGAACAA	0.393													14	54					0	0	0	0	C	70361130	T	C	70361130	5	2	341	1	0	0	0	0	0	0	1	0	17057	1567	55	5	1160	5	UGT2B4	4	70361130	Splice_Site	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	4159412	70361130	120793146	180	64061											
MUC7	4589	broad.mit.edu	37	chr4	71346990	71346990	+	Frame_Shift_Del	DEL	C	C	-																															ccacaccttctgcaactacaCcagctccaccatcttcctca																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:71346990delC	ENST00000413702.1	+	4	817	c.529delC	c.(529-531)cafs	p.P177fs	MUC7_ENST00000304887.5_Frame_Shift_Del_p.P177fs|MUC7_ENST00000456088.1_Frame_Shift_Del_p.P177fs|MUC7_ENST00000514512.1_3'UTR	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	177	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TGCAACTACACCAGCTCCACC	0.537													38	122	---	---	---	---					-	71346990	C	-	71346990	7	5	341	1	0	1	0	1	0	0	0	0	10051	507	18	0	535	0	MUC7	4	71346990	Frame_Shift_Del	DEL	C	TCGA-CV-A461-01A-41D-A25Y-08	985860	71346990	119807286	181	64062											
WDFY3	23001	broad.mit.edu	37	chr4	85617191	85617191	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttagtgggtcattgaTgttgtagatatccacttgac	8	16	9	8	0	1	3	1	2	0	1	3	3	3	3	2	1	0	2	2	1	3	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:85617191T>C	ENST00000322366.6	-	57	9189	c.8782A>G	c.(8782-8784)Atc>Gtc	p.I2928V	WDFY3_ENST00000295888.4_Missense_Mutation_p.I2945V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2945	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGGTCATTGATGTTGTAGATA	0.393													27	91					0	0	0	0	C	85617191	T	C	85617191	3	2	341	1	0	0	0	0	1	0	0	0	17366	1464	51	5	1791	5	WDFY3	4	85617191	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	14270201	85617191	105537085	182	64063											
KLHL8	57563	broad.mit.edu	37	chr4	88116485	88116485	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaatctcaccttgagtgtGacatcacagagttctccatt	10	12	8	11	0	3	3	2	2	2	1	5	3	3	3	2	1	0	2	2	1	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:88116485G>A	ENST00000273963.5	-	2	548	c.207C>T	c.(205-207)gtC>gtT	p.V69V	KLHL8_ENST00000425278.2_Silent_p.V69V|KLHL8_ENST00000498875.2_Silent_p.V69V|KLHL8_ENST00000512111.1_Silent_p.V69V|KLHL8_ENST00000545252.1_5'UTR	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	69	BTB.									breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CCTTGAGTGTGACATCACAGA	0.368													20	57					0	0	0	0	A	88116485	G	A	88116485	2	1	341	1	0	0	0	0	0	0	0	1	8447	1277	45	2		2	KLHL8	4	88116485	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2499294	88116485	103037791	183	64064											
HERC6	55008	broad.mit.edu	37	chr4	89345806	89345806	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccatttatctttaattcGctatccaaaattaaattatt	13	20	1	7	1	1	0	0	0	1	0	4	0	3	0	2	0	0	1	2	0	8	10			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:89345806G>T	ENST00000264346.7	+	15	1946	c.1887G>T	c.(1885-1887)tcG>tcT	p.S629S	HERC6_ENST00000380265.5_Intron	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	629					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TCTTTAATTCGCTATCCAAAA	0.264													14	62					0.000308642	0.000326399	1	0	T	89345806	G	T	89345806	2	4	341	1	0	0	0	0	0	0	0	1	7112	1074	38	3		3	HERC6	4	89345806	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1229321	89345806	101808470	184	64065											
TACR3	6870	broad.mit.edu	37	chr4	104512753	104512753	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttccatctatttagttgttGatagattgcagtgagaatga	11	17	9	4	0	1	4	0	3	1	2	2	5	2	4	1	0	1	3	1	0	4	8			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:104512753G>A	ENST00000304883.2	-	4	1116	c.976C>T	c.(976-978)Caa>Taa	p.Q326*	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	326						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTTAGTTGTTGATAGATTGCA	0.388													25	77					0	0	0	0	A	104512753	G	A	104512753	4	1	341	1	0	0	0	0	0	1	0	0	15598	1299	45	2	429	2	TACR3	4	104512753	Nonsense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	15166947	104512753	86641523	185	64066											
RRH	10692	broad.mit.edu	37	chr4	110757205	110757205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacatcggcttgattctggGagcctggatcaatggcctgt	7	13	12	9	1	2	1	1	1	1	0	3	3	2	3	2	4	2	1	2	4	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:110757205G>T	ENST00000317735.4	+	4	474	c.440G>T	c.(439-441)gGa>gTa	p.G147V		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	147					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		TTGATTCTGGGAGCCTGGATC	0.453													50	185					1.30409e-13	1.72686e-13	1	0	T	110757205	G	T	110757205	3	4	341	1	0	0	0	0	1	0	0	0	13765	1174	41	2	454	2	RRH	4	110757205	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	6244452	110757205	80397071	186	64067											
ENPEP	2028	broad.mit.edu	37	chr4	111431425	111431425	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttggaaatattgtgaccatgGactggtgggaagacttgtgg	10	12	15	4	0	0	2	0	1	0	1	0	5	0	5	1	5	0	0	1	5	3	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:111431425G>C	ENST00000265162.5	+	6	1561	c.1219G>C	c.(1219-1221)Gac>Cac	p.D407H		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	407					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TGTGACCATGGACTGGTGGGA	0.378													22	101					0	0	0	0	C	111431425	G	C	111431425	3	2	341	1	0	0	0	0	1	0	0	0	5166	1174	41	2	1241	2	ENPEP	4	111431425	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	674220	111431425	79722851	187	64068											
NEUROG2	63973	broad.mit.edu	37	chr4	113436008	113436008	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccacgtggaggcgggcgaGgggctgtctccgctgctgct	3	8	17	13	4	1	0	0	0	1	0	3	2	2	1	2	5	2	4	2	5	0	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:113436008G>A	ENST00000313341.3	-	2	950	c.624C>T	c.(622-624)ccC>ccT	p.P208P		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	208	Ser-rich.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		AGGCGGGCGAGGGGCTGTCTC	0.721													5	22					0	0	0	0	A	113436008	G	A	113436008	2	1	341	1	0	0	0	0	0	0	0	1	10423	987	35	4		4	NEUROG2	4	113436008	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2004583	113436008	77718268	188	64069											
ANK2	287	broad.mit.edu	37	chr4	114275445	114275445	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacaaaaactgaaaggcacTctcctgtgtcatctacaaaa	16	8	6	11	1	3	1	1	1	2	0	4	2	3	1	1	1	2	1	1	1	6	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:114275445T>C	ENST00000357077.4	+	38	5724	c.5671T>C	c.(5671-5673)Tct>Cct	p.S1891P	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1858P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1858	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAAAGGCACTCTCCTGTGTC	0.478													40	125					0	0	0	0	C	114275445	T	C	114275445	3	2	341	1	0	0	0	0	1	0	0	0	621	1551	54	5	5886	5	ANK2	4	114275445	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	839437	114275445	76878831	189	64070											
NDST4	64579	broad.mit.edu	37	chr4	115858513	115858513	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccctttctgtaccgggcAggtttcagatgtggatattc	8	13	11	9	1	2	1	1	0	1	1	3	2	2	2	2	3	2	3	2	3	3	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:115858513A>T	ENST00000264363.2	-	5	2046	c.1368T>A	c.(1366-1368)ccT>ccA	p.P456P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	456	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTACCGGGCAGGTTTCAGAT	0.453													17	69					0	0	0	0	T	115858513	A	T	115858513	2	4	341	1	0	0	0	0	0	0	0	1	10328	175	7	5		5	NDST4	4	115858513	Silent	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	1583068	115858513	75295763	190	64071											
SYNPO2	171024	broad.mit.edu	37	chr4	119948120	119948120	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggcctgtggttgagcTgcaactgtccctttcacagg	5	11	13	12	0	1	1	1	1	0	0	2	1	2	1	3	3	3	3	3	3	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:119948120T>A	ENST00000307142.4	+	3	792	c.596T>A	c.(595-597)cTg>cAg	p.L199Q	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.L199Q|SYNPO2_ENST00000429713.2_Missense_Mutation_p.L199Q	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	199						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTGGTTGAGCTGCAACTGTCC	0.557													8	38					0	0	0	0	A	119948120	T	A	119948120	3	1	341	1	0	0	0	0	1	0	0	0	15548	1580	55	5	606	5	SYNPO2	4	119948120	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	4089607	119948120	71206156	191	64072											
FAT4	79633	broad.mit.edu	37	chr4	126336241	126336241	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcaagtctccattattttGttggatgtaaatgataaccc	11	15	7	8	0	2	1	1	1	1	0	3	2	2	2	2	1	1	3	2	1	5	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:126336241G>A	ENST00000394329.3	+	5	6136	c.6123G>A	c.(6121-6123)ttG>ttA	p.L2041L	FAT4_ENST00000335110.5_Silent_p.L339L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2041	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCATTATTTTGTTGGATGTAA	0.408													53	204					0	0	0	0	A	126336241	G	A	126336241	2	1	341	1	0	0	0	0	0	0	0	1	5737	1368	48	4		4	FAT4	4	126336241	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	6388121	126336241	64818035	192	64073											
TTC29	83894	broad.mit.edu	37	chr4	147861012	147861012	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctaaggctgtaagcttCgggcgtgtcatgggcagtgg	6	10	17	8	2	1	0	1	0	0	0	2	0	1	0	0	5	1	5	0	5	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:147861012C>A	ENST00000513335.1	-	4	313	c.114G>T	c.(112-114)ccG>ccT	p.P38P	TTC29_ENST00000325106.4_Silent_p.P12P|TTC29_ENST00000398886.4_Silent_p.P38P|RP11-292D4.2_ENST00000515530.1_RNA			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	12							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTGTAAGCTTCGGGCGTGTCA	0.428													6	43					8.12818e-05	8.82554e-05	1	0	A	147861012	C	A	147861012	2	1	341	1	0	0	0	0	0	0	0	1	16792	871	31	3		3	TTC29	4	147861012	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	21524771	147861012	43293264	193	64074											
PRMT10	90826	broad.mit.edu	37	chr4	148575546	148575546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaggttagcgagggcaCtacaaagttcagcctcattt	11	11	10	9	1	3	1	2	1	1	0	3	2	3	1	1	2	3	3	1	2	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:148575546C>A	ENST00000322396.6	-	9	1744	c.1502G>T	c.(1501-1503)aGt>aTt	p.S501I	PRMT10_ENST00000541232.1_Missense_Mutation_p.S388I|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	501						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AGCGAGGGCACTACAAAGTTC	0.383													37	181					6.19805e-25	9.29106e-25	1	0	A	148575546	C	A	148575546	3	1	341	1	0	0	0	0	1	0	0	0	12616	565	20	4	1051	4	PRMT10	4	148575546	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	714534	148575546	42578730	194	64075											
RBM46	166863	broad.mit.edu	37	chr4	155719122	155719122	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaaaatcgaggttatgCttttgtgatgtacactacaa	12	14	10	5	1	0	2	0	2	0	0	1	3	0	2	0	2	3	3	0	2	6	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:155719122C>G	ENST00000510397.1	+	3	490	c.311C>G	c.(310-312)gCt>gGt	p.A104G	RBM46_ENST00000281722.3_Missense_Mutation_p.A104G|RBM46_ENST00000514866.1_Missense_Mutation_p.A104G	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	104	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CGAGGTTATGCTTTTGTGATG	0.348													28	100					0	0	0	0	G	155719122	C	G	155719122	3	3	341	1	0	0	0	0	1	0	0	0	13222	797	28	4	317	4	RBM46	4	155719122	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	7143576	155719122	35435154	195	64076											
PDGFC	56034	broad.mit.edu	37	chr4	157689137	157689137	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctctgttagaaggttcagatCcaccactatatggtataaaa	14	12	7	8	0	2	2	1	0	1	2	3	2	3	2	2	2	0	3	2	2	7	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:157689137C>G	ENST00000502773.1	-	5	1199	c.709G>C	c.(709-711)Gat>Cat	p.D237H	PDGFC_ENST00000422544.2_Missense_Mutation_p.D237H|PDGFC_ENST00000541126.1_Missense_Mutation_p.D74H|PDGFC_ENST00000542208.1_Missense_Mutation_p.D82H|PDGFC_ENST00000504672.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	237					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AGGTTCAGATCCACCACTATA	0.358													24	137					0	0	0	0	G	157689137	C	G	157689137	3	3	341	1	0	0	0	0	1	0	0	0	11730	855	30	2	336	2	PDGFC	4	157689137	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1970015	157689137	33465139	196	64077											
GRIA2	2891	broad.mit.edu	37	chr4	158256889	158256889	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaatgagcgctatgagggcTactgtgttgacctggctgca	8	10	14	9	1	0	3	0	3	0	0	0	3	0	3	1	2	3	6	1	2	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:158256889T>C	ENST00000296526.7	+	10	1658	c.1333T>C	c.(1333-1335)Tac>Cac	p.Y445H	GRIA2_ENST00000449365.1_Missense_Mutation_p.Y398H|GRIA2_ENST00000264426.9_Missense_Mutation_p.Y445H|GRIA2_ENST00000393815.2_Missense_Mutation_p.Y398H|GRIA2_ENST00000507898.1_Missense_Mutation_p.Y398H	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	445					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTATGAGGGCTACTGTGTTGA	0.423													8	61					0	0	0	0	C	158256889	T	C	158256889	3	2	341	1	0	0	0	0	1	0	0	0	6818	1522	53	5	1371	5	GRIA2	4	158256889	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	567752	158256889	32897387	197	64078											
TKTL2	84076	broad.mit.edu	37	chr4	164394460	164394460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggtagctggccttgtcaaGgtacttgccagtataagcca	9	10	11	11	1	1	0	1	0	0	0	1	0	1	0	4	3	4	4	4	3	5	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:164394460G>T	ENST00000280605.3	-	1	587	c.427C>A	c.(427-429)Ctt>Att	p.L143I		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	143						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCCTTGTCAAGGTACTTGCCA	0.537													25	84					2.79863e-10	3.47354e-10	1	0	T	164394460	G	T	164394460	3	4	341	1	0	0	0	0	1	0	0	0	16030	1000	35	4	1457	4	TKTL2	4	164394460	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	6137571	164394460	26759816	198	64079											
MFAP3L	9848	broad.mit.edu	37	chr4	170913348	170913348	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgacgcgcaaggtcacCgtgttgttcacggtgccgta	9	9	13	10	5	2	2	2	1	0	1	2	2	2	2	2	2	1	4	2	2	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:170913348C>G	ENST00000361618.3	-	3	718	c.411G>C	c.(409-411)acG>acC	p.T137T	MFAP3L_ENST00000393704.3_Silent_p.T34T|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	137	Ig-like C2-type.					integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GCAAGGTCACCGTGTTGTTCA	0.532													34	102					0	0	0	0	G	170913348	C	G	170913348	2	3	341	1	0	0	0	0	0	0	0	1	9585	639	23	3		3	MFAP3L	4	170913348	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	6518888	170913348	20240928	199	64080											
ADAM29	11086	broad.mit.edu	37	chr4	175897975	175897975	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaattgcactctgactgaTggttctacttgtgcttttgg	7	17	9	8	0	3	2	1	2	2	0	3	2	3	2	0	2	3	3	0	2	2	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:175897975T>C	ENST00000359240.3	+	5	1969	c.1299T>C	c.(1297-1299)gaT>gaC	p.D433D	ADAM29_ENST00000514159.1_Silent_p.D433D|ADAM29_ENST00000445694.1_Silent_p.D433D|ADAM29_ENST00000404450.4_Silent_p.D433D	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	433	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTCTGACTGATGGTTCTACTT	0.443													29	88					0	0	0	0	C	175897975	T	C	175897975	2	2	341	1	0	0	0	0	0	0	0	1	247	1461	51	5		5	ADAM29	4	175897975	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	4984627	175897975	15256301	200	64081											
WDR17	116966	broad.mit.edu	37	chr4	177071305	177071305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtgaaaaaactaagatGgttctcagaatgtttatctg	15	13	8	5	0	3	3	2	1	2	2	4	3	3	3	0	1	1	2	0	1	7	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:177071305G>T	ENST00000393643.2	+	15	2411	c.2159G>T	c.(2158-2160)tGg>tTg	p.W720L	WDR17_ENST00000508596.1_Missense_Mutation_p.W720L|WDR17_ENST00000280190.4_Missense_Mutation_p.W744L|WDR17_ENST00000507824.2_Missense_Mutation_p.W727L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	744										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AAACTAAGATGGTTCTCAGAA	0.323													12	95					3.07112e-06	3.47131e-06	1	0	T	177071305	G	T	177071305	3	4	341	1	0	0	0	0	1	0	0	0	17373	1357	47	4	2289	4	WDR17	4	177071305	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1173330	177071305	14082971	201	64082											
WDR17	116966	broad.mit.edu	37	chr4	177094455	177094455	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactggactttggataccatAtaccctgttcttgacctact	9	14	7	11	0	1	1	0	1	1	0	1	4	1	3	3	2	3	1	3	2	4	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr4:177094455A>G	ENST00000393643.2	+	26	3579	c.3327A>G	c.(3325-3327)atA>atG	p.I1109M	WDR17_ENST00000508596.1_Missense_Mutation_p.I1094M|WDR17_ENST00000280190.4_Missense_Mutation_p.I1133M|WDR17_ENST00000507824.2_Missense_Mutation_p.I1108M	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1133										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGGATACCATATACCCTGTTC	0.328													11	35					0	0	0	0	G	177094455	A	G	177094455	3	3	341	1	0	0	0	0	1	0	0	0	17373	439	16	5	3501	5	WDR17	4	177094455	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	23150	177094455	14059821	202	64083											
BRD9	65980	broad.mit.edu	37	chr5	878528	878528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgagtagagcagctccatctCgtccgacttcaagtcgccaa	10	9	9	13	3	2	2	1	1	1	1	6	3	4	2	3	0	2	3	3	0	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:878528C>G	ENST00000323510.4	-	8	924	c.925G>C	c.(925-927)Gag>Cag	p.E309Q	BRD9_ENST00000483173.1_Missense_Mutation_p.E352Q|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000467963.1_Missense_Mutation_p.E405Q|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000388890.4_Missense_Mutation_p.E289Q			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	405							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGCTCCATCTCGTCCGACTTC	0.567													13	75					0	0	0	0	G	878528	C	G	878528	3	3	341	1	0	0	0	0	1	0	0	0	1515	893	31	3	604	3	BRD9	5	878528	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08		878528	180036732	203	64084											
ADAMTS16	170690	broad.mit.edu	37	chr5	5235208	5235208	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaatgtccccgggacagTgttgacttccgtgctgctca	8	10	11	12	2	1	2	1	1	0	1	3	3	3	3	3	1	2	3	3	1	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:5235208T>C	ENST00000274181.7	+	13	2070	c.1932T>C	c.(1930-1932)agT>agC	p.S644S	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	644	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCCGGGACAGTGTTGACTTCC	0.522													20	72					0	0	0	0	C	5235208	T	C	5235208	2	2	341	1	0	0	0	0	0	0	0	1	261	1693	59	5		5	ADAMTS16	5	5235208	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	4356680	5235208	175680052	204	64085											
ADAMTS16	170690	broad.mit.edu	37	chr5	5318252	5318252	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgctctcacagtgcacGgccagctgtgggggaggcgt	5	9	17	10	2	1	0	1	0	1	0	2	1	1	1	1	4	3	4	1	4	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:5318252G>T	ENST00000274181.7	+	22	3555	c.3417G>T	c.(3415-3417)acG>acT	p.T1139T		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1139	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACAGTGCACGGCCAGCTGTG	0.657													5	15					0.000602214	0.000631671	1	0	T	5318252	G	T	5318252	2	4	341	1	0	0	0	0	0	0	0	1	261	1103	39	3		3	ADAMTS16	5	5318252	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	83044	5318252	175597008	205	64086											
ADCY2	108	broad.mit.edu	37	chr5	7626343	7626343	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctaccataagcacctcAtggaactcgctcttcagcaa	12	8	7	14	1	3	0	2	0	1	0	4	2	3	1	3	1	5	3	3	1	4	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:7626343A>T	ENST00000338316.4	+	4	723	c.634A>T	c.(634-636)Atg>Ttg	p.M212L		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	212					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TAAGCACCTCATGGAACTCGC	0.453													32	136					0	0	0	0	T	7626343	A	T	7626343	3	4	341	1	0	0	0	0	1	0	0	0	294	217	8	5	648	5	ADCY2	5	7626343	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	2308091	7626343	173288917	206	64087											
DNAH5	1767	broad.mit.edu	37	chr5	13753572	13753572	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccgggctttcatttcctTccgccagtcatttaacagaa	8	15	6	12	2	2	1	2	0	0	1	5	1	5	1	4	1	1	1	4	1	2	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:13753572T>G	ENST00000265104.4	-	63	10746	c.10642A>C	c.(10642-10644)Aag>Cag	p.K3548Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3548					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCATTTCCTTCCGCCAGTCA	0.393									Kartagener syndrome				36	169					0	0	0	0	G	13753572	T	G	13753572	3	3	341	1	0	0	0	0	1	0	0	0	4641	1792	62	5	3300	5	DNAH5	5	13753572	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	6127229	13753572	167161688	207	64088											
DNAH5	1767	broad.mit.edu	37	chr5	13922337	13922337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctcgccccagccatggCtcgtggctctgagagcagga	7	6	14	14	3	1	1	0	1	1	1	3	4	1	2	3	3	3	4	3	3	0	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:13922337C>A	ENST00000265104.4	-	5	643	c.539G>T	c.(538-540)aGc>aTc	p.S180I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	180	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAGCCATGGCTCGTGGCTCT	0.562									Kartagener syndrome				14	48					4.36969e-10	5.39744e-10	1	0	A	13922337	C	A	13922337	3	1	341	1	0	0	0	0	1	0	0	0	4641	797	28	4	13635	4	DNAH5	5	13922337	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	168765	13922337	166992923	208	64089											
DNAH5	1767	broad.mit.edu	37	chr5	13931227	13931227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgcatcccacctgattccCttcaagaatggcatcctcca	11	9	5	16	1	1	2	1	1	0	1	5	2	5	2	5	1	1	2	5	1	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:13931227C>T	ENST00000265104.4	-	2	288	c.184G>A	c.(184-186)Ggg>Agg	p.G62R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	62	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCTGATTCCCTTCAAGAATG	0.502									Kartagener syndrome				28	83					0	0	0	0	T	13931227	C	T	13931227	3	4	341	1	0	0	0	0	1	0	0	0	4641	681	24	4	14002	4	DNAH5	5	13931227	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	8890	13931227	166984033	209	64090											
PRDM9	56979	broad.mit.edu	37	chr5	23524588	23524588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgaatacggccaggaactgGgcatcaagtggggcagcaag	13	5	15	8	1	1	1	1	1	0	0	1	2	1	2	1	5	3	3	1	5	5	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:23524588G>A	ENST00000296682.3	+	10	1278	c.1096G>A	c.(1096-1098)Ggc>Agc	p.G366S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	366					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCAGGAACTGGGCATCAAGTG	0.488										HNSCC(3;0.000094)			25	80					0	0	0	0	A	23524588	G	A	23524588	3	1	341	1	0	0	0	0	1	0	0	0	12543	1232	43	4	1130	4	PRDM9	5	23524588	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	9593361	23524588	157390672	210	64091											
EGFLAM	133584	broad.mit.edu	37	chr5	38370502	38370502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactaccagtttgccgtgaGggcaatgaattcccatggcc	10	9	10	12	1	0	2	0	2	0	0	1	2	1	2	4	2	3	2	4	2	4	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:38370502G>T	ENST00000322350.5	+	6	996	c.650G>T	c.(649-651)aGg>aTg	p.R217M	EGFLAM_ENST00000354891.3_Missense_Mutation_p.R217M	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	217	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTTGCCGTGAGGGCAATGAAT	0.567													8	50					0.000157383	0.00016875	1	0	T	38370502	G	T	38370502	3	4	341	1	0	0	0	0	1	0	0	0	5002	1000	35	4	672	4	EGFLAM	5	38370502	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	14845914	38370502	142544758	211	64092											
C9	735	broad.mit.edu	37	chr5	39306790	39306790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcagtcacatcaatcaCggttcctcggagaagctttt	12	11	8	10	2	4	1	4	0	0	1	6	2	5	1	1	2	1	2	1	2	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:39306790C>T	ENST00000263408.4	-	9	1440	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	449	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ACATCAATCACGGTTCCTCGG	0.383													26	97					0	0	0	0	T	39306790	C	T	39306790	3	4	341	1	0	0	0	0	1	0	0	0	2468	536	19	1	346	1	C9	5	39306790	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	936288	39306790	141608470	212	64093											
PTGER4	5734	broad.mit.edu	37	chr5	40681879	40681879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccgccggagcttccgcCgcatcgcgggcgccgagatc	4	4	16	17	9	0	1	0	0	0	1	3	3	1	2	5	3	1	2	5	3	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:40681879C>A	ENST00000302472.3	+	2	1808	c.784C>A	c.(784-786)Cgc>Agc	p.R262S		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	262					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GAGCTTCCGCCGCATCGCGGG	0.716													11	43					0.0692343	0.0699593	1	0	A	40681879	C	A	40681879	3	1	341	1	0	0	0	0	1	0	0	0	12825	652	23	3	786	3	PTGER4	5	40681879	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1375089	40681879	140233381	213	64094											
C7	730	broad.mit.edu	37	chr5	40979957	40979957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtagggacagctgtactctgCctgcctcagctgagaaagct	9	9	12	11	0	2	1	1	1	1	1	2	3	2	2	2	1	6	5	2	1	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:40979957C>A	ENST00000313164.9	+	17	2655	c.2296C>A	c.(2296-2298)Cct>Act	p.P766T	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	766	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTGTACTCTGCCTGCCTCAGC	0.468													6	41					2.7689e-08	3.2886e-08	1	0	A	40979957	C	A	40979957	3	1	341	1	0	0	0	0	1	0	0	0	2398	739	26	4	2362	4	C7	5	40979957	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	298078	40979957	139935303	214	64095											
PARP8	79668	broad.mit.edu	37	chr5	50091026	50091026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgagcacaacacaaacttGaagccccataaactgttaag	16	8	7	10	0	0	2	0	2	0	0	0	2	0	2	2	0	5	2	2	0	6	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:50091026G>A	ENST00000281631.5	+	12	1361	c.1203G>A	c.(1201-1203)ttG>ttA	p.L401L	PARP8_ENST00000505697.2_Silent_p.L401L|PARP8_ENST00000505554.1_Silent_p.L380L|PARP8_ENST00000514067.2_Silent_p.L401L|PARP8_ENST00000514342.2_Silent_p.L154L|PARP8_ENST00000503750.2_Silent_p.L401L|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	401						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACACAAACTTGAAGCCCCATA	0.413													31	83					0	0	0	0	A	50091026	G	A	50091026	2	1	341	1	0	0	0	0	0	0	0	1	11536	1281	45	2		2	PARP8	5	50091026	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	9111069	50091026	130824234	215	64096											
PARP8	79668	broad.mit.edu	37	chr5	50117120	50117120	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgtgattttcgagccatAtccttctgtggtagatccta	8	16	9	8	1	1	2	0	1	1	1	4	3	3	2	3	1	1	2	3	1	3	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:50117120A>T	ENST00000281631.5	+	16	1900	c.1742A>T	c.(1741-1743)tAt>tTt	p.Y581F	PARP8_ENST00000505697.2_Missense_Mutation_p.Y581F|PARP8_ENST00000505554.1_Missense_Mutation_p.Y560F|PARP8_ENST00000514067.2_Intron|PARP8_ENST00000514342.2_Intron|PARP8_ENST00000503750.2_Intron|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	581						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTCGAGCCATATCCTTCTGTG	0.393													17	77					0	0	0	0	T	50117120	A	T	50117120	3	4	341	1	0	0	0	0	1	0	0	0	11536	449	16	5	1804	5	PARP8	5	50117120	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	26094	50117120	130798140	216	64097											
IL31RA	133396	broad.mit.edu	37	chr5	55212555	55212555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttccacccccagtgacaaGttggtgattgacaagttggt	9	12	11	9	0	0	3	0	3	0	0	1	3	1	3	3	2	0	3	3	2	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:55212555G>T	ENST00000396834.1	+	17	2341	c.1845G>T	c.(1843-1845)aaG>aaT	p.K615N	IL31RA_ENST00000354961.4_Missense_Mutation_p.K615N|IL31RA_ENST00000490985.1_Missense_Mutation_p.K492N|IL31RA_ENST00000359040.5_Missense_Mutation_p.K634N|IL31RA_ENST00000447346.2_Missense_Mutation_p.K634N	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	602					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAGTGACAAGTTGGTGATTG	0.433													16	82					2.32078e-09	2.83488e-09	1	0	T	55212555	G	T	55212555	3	4	341	1	0	0	0	0	1	0	0	0	7744	1020	36	4	1960	4	IL31RA	5	55212555	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	5095435	55212555	125702705	217	64098											
SV2C	22987	broad.mit.edu	37	chr5	75490835	75490835	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacagtctcttctgatttgCatgtctgtcaacggattctt	9	16	7	9	1	5	1	1	1	4	0	6	2	5	2	0	1	3	1	0	1	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:75490835C>A	ENST00000502798.2	+	3	1114	c.672C>A	c.(670-672)tgC>tgA	p.C224*	SV2C_ENST00000322285.7_Nonsense_Mutation_p.C224*	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	224					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TTCTGATTTGCATGTCTGTCA	0.483													69	323					1.55545e-33	2.38729e-33	1	0	A	75490835	C	A	75490835	4	1	341	1	0	0	0	0	0	1	0	0	15509	718	25	4	678	4	SV2C	5	75490835	Nonsense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	20278280	75490835	105424425	218	64099											
AGGF1	55109	broad.mit.edu	37	chr5	76332480	76332480	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcggctgtatcacagactGgatttagttatgatgaaaat	14	12	10	5	1	1	3	1	2	0	1	1	4	1	4	0	2	1	3	0	2	6	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:76332480G>C	ENST00000312916.7	+	4	998	c.616G>C	c.(616-618)Gga>Cga	p.G206R		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	206					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ATCACAGACTGGATTTAGTTA	0.398													31	106					0	0	0	0	C	76332480	G	C	76332480	3	2	341	1	0	0	0	0	1	0	0	0	382	1349	47	4	630	4	AGGF1	5	76332480	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	841645	76332480	104582780	219	64100											
LHFPL2	10184	broad.mit.edu	37	chr5	77805896	77805896	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagcccccgcccgggccCgccggctccacgccgccgcg	2	1	16	22	8	0	0	0	0	0	0	1	1	1	1	8	4	1	1	8	4	0	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:77805896C>G	ENST00000380345.2	-	4	816	c.141G>C	c.(139-141)gcG>gcC	p.A47A	LHFPL2_ENST00000515007.2_Silent_p.A47A	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	47						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		cgcccgggcccgccggctcca	0.687													5	21					0	0	0	0	G	77805896	C	G	77805896	2	3	341	1	0	0	0	0	0	0	0	1	8819	639	23	3		3	LHFPL2	5	77805896	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1473416	77805896	103109364	220	64101											
SSBP2	23635	broad.mit.edu	37	chr5	80809485	80809485	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaggacctactggcatgcCatctcctgggggaatgtttc	8	11	11	11	0	1	0	0	0	1	0	3	2	1	2	3	4	3	2	3	4	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:80809485C>G	ENST00000320672.4	-	5	544	c.334G>C	c.(334-336)Ggc>Cgc	p.G112R	SSBP2_ENST00000515395.1_Intron|SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000505980.1_Missense_Mutation_p.G112R	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	112	Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		ACTGGCATGCCATCTCCTGGG	0.448													29	105					0	0	0	0	G	80809485	C	G	80809485	3	3	341	1	0	0	0	0	1	0	0	0	15270	594	21	4	803	4	SSBP2	5	80809485	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3003589	80809485	100105775	221	64102											
GPR98	84059	broad.mit.edu	37	chr5	89990323	89990323	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagtgtttgtgatctacAatattagtcccaatacttcc	10	16	7	8	0	1	1	0	1	1	0	3	2	3	2	2	1	2	1	2	1	6	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:89990323A>G	ENST00000405460.2	+	33	7846	c.7750A>G	c.(7750-7752)Aat>Gat	p.N2584D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2584			N -> S (in dbSNP:rs1878878).		cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTGATCTACAATATTAGTCC	0.438													61	252					0	0	0	0	G	89990323	A	G	89990323	3	3	341	1	0	0	0	0	1	0	0	0	6771	130	5	5	7880	5	GPR98	5	89990323	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	9180838	89990323	90924937	222	64103											
YTHDC2	64848	broad.mit.edu	37	chr5	112903465	112903465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattagatgttgttcagcaGtgacgcctgtcactatattg	10	15	9	7	1	2	2	2	1	0	1	2	2	2	2	1	0	1	3	1	0	4	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:112903465G>A	ENST00000161863.4	+	23	3376	c.3163G>A	c.(3163-3165)Gtg>Atg	p.V1055M		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1055							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGTTCAGCAGTGACGCCTGT	0.408													26	85					0	0	0	0	A	112903465	G	A	112903465	3	1	341	1	0	0	0	0	1	0	0	0	17593	1029	36	4	3253	4	YTHDC2	5	112903465	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	22913142	112903465	68011795	223	64104											
TRIM36	55521	broad.mit.edu	37	chr5	114499398	114499398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcaatgggtgggtaaacaGctccttgcatgctgggcaaa	12	9	12	8	0	1	0	1	0	0	0	2	0	2	0	1	3	4	5	1	3	5	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:114499398G>T	ENST00000513154.1	-	2	405	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Missense_Mutation_p.L39M|TRIM36_ENST00000515104.1_5'UTR			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	39						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TGGGTAAACAGCTCCTTGCAT	0.408													19	72					4.96729e-08	5.84565e-08	1	0	T	114499398	G	T	114499398	3	4	341	1	0	0	0	0	1	0	0	0	16605	962	34	4	2107	4	TRIM36	5	114499398	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1595933	114499398	66415862	224	64105											
CSNK1G3	1456	broad.mit.edu	37	chr5	122930782	122930782	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggcaaatccccaccAtttgagagctcaccttgcag	11	7	8	15	0	1	1	1	1	0	1	2	2	2	1	5	1	3	4	5	1	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:122930782A>G	ENST00000395412.1	+	11	1855	c.1136A>G	c.(1135-1137)cAt>cGt	p.H379R	CSNK1G3_ENST00000360683.2_Missense_Mutation_p.H379R|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000345990.4_Intron|CSNK1G3_ENST00000521364.1_Intron|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.H379R|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.H379R|CSNK1G3_ENST00000510842.2_Intron	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	379					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AATCCCCACCATTTGAGAGCT	0.458													15	44					0	0	0	0	G	122930782	A	G	122930782	3	3	341	1	0	0	0	0	1	0	0	0	3988	217	8	5	1174	5	CSNK1G3	5	122930782	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	8431384	122930782	57984478	225	64106											
FBN2	2201	broad.mit.edu	37	chr5	127623023	127623023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacatcttttgatcttccCtgagggcatagccaatcggg	8	12	10	11	1	2	2	0	2	2	0	4	2	3	2	2	2	2	2	2	2	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:127623023C>A	ENST00000508053.1	-	60	7831	c.6857G>T	c.(6856-6858)aGg>aTg	p.R2286M	FBN2_ENST00000262464.4_Missense_Mutation_p.R2286M			P35556	FBN2_HUMAN	fibrillin 2	2286	EGF-like 38; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTGATCTTCCCTGAGGGCATA	0.458													27	123					1.26454e-06	1.44412e-06	1	0	A	127623023	C	A	127623023	3	1	341	1	0	0	0	0	1	0	0	0	5748	681	24	4	1929	4	FBN2	5	127623023	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	4692241	127623023	53292237	226	64107											
FBN2	2201	broad.mit.edu	37	chr5	127654601	127654601	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctgttctgtccaattCataaccatcatcgcagatgc	9	12	5	15	1	3	1	2	0	1	1	6	1	5	1	4	0	2	2	4	0	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:127654601C>A	ENST00000508053.1	-	41	5538	c.4564G>T	c.(4564-4566)Gaa>Taa	p.E1522*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1522*			P35556	FBN2_HUMAN	fibrillin 2	1522	EGF-like 25; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGTCCAATTCATAACCATCA	0.378													30	69					3.73988e-18	5.2976e-18	1	0	A	127654601	C	A	127654601	4	1	341	1	0	0	0	0	0	1	0	0	5748	835	29	2	4298	2	FBN2	5	127654601	Nonsense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	31578	127654601	53260659	227	64108											
PCDHA4	56144	broad.mit.edu	37	chr5	140189135	140189135	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaagatcagctgcagaCaactgaggaatcctttgcaa	15	7	10	9	0	1	4	1	1	0	3	2	6	2	5	1	1	4	3	1	1	4	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:140189135C>G	ENST00000530339.1	+	1	2363	c.2363C>G	c.(2362-2364)aCa>aGa	p.T788R	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.T788R|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.T788R	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTGCAGACAACTGAGGAA	0.448													28	131					0	0	0	0	G	140189135	C	G	140189135	3	3	341	1	0	0	0	0	1	0	0	0	11597	478	17	4	2365	4	PCDHA4	5	140189135	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	12534534	140189135	40726125	228	64109											
PCDHA6	56142	broad.mit.edu	37	chr5	140209283	140209284	+	Frame_Shift_Del	DEL	GC	GC	-																															gctgctgcagtttcaggtgaGcgcgcgcgacgcgggcgtgc																								rs61730774	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:140209283_140209284delGC	ENST00000529310.1	+	1	1721_1722	c.1607_1608delGC	c.(1606-1608)afs	p.S536fs	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCAGGTGAGCGCGCGCGACG	0.683													45	169	---	---	---	---					-	140209284	GC	-	140209283	7	5	341	1	0	1	0	1	0	0	0	0	11599	971	34	0	1609	0	PCDHA6	5	140209283	Frame_Shift_Del	DEL	GC	TCGA-CV-A461-01A-41D-A25Y-08	20148	140209283	40705977	229	64110											
PCDHA8	56140	broad.mit.edu	37	chr5	140222519	140222519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttccaggtgagcgcgcGcgacgcgggcgtgccgcctc	4	5	17	15	8	0	1	0	1	0	0	2	2	1	1	3	2	2	2	3	2	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:140222519G>A	ENST00000531613.1	+	1	1613	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R538H|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1												p.R538L(1)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGCGACGCGGGC	0.667													52	178					0	0	0	0	A	140222519	G	A	140222519	3	1	341	1	0	0	0	0	1	0	0	0	11601	1087	38	1	1615	1	PCDHA8	5	140222519	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	13236	140222519	40692741	230	64111											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307994	140307994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggaatcatccagtggggCcatcactgccaaaacttcct	11	9	9	12	0	2	0	2	0	0	0	4	1	4	1	4	3	2	0	4	3	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:140307994C>T	ENST00000253807.2	+	1	1517	c.1517C>T	c.(1516-1518)gCc>gTc	p.A506V	PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A506V|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGTGGGGCCATCACTGCC	0.522													28	116					0	0	0	0	T	140307994	C	T	140307994	3	4	341	1	0	0	0	0	1	0	0	0	11603	739	26	4	1519	4	PCDHAC1	5	140307994	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	85475	140307994	40607266	231	64112											
PCDHB11	56125	broad.mit.edu	37	chr5	140579453	140579453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacctggagcttttctgtgGcagaagaaatgcagagcggg	12	8	14	7	1	1	3	0	0	1	3	1	4	1	4	1	3	4	3	1	3	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:140579453G>A	ENST00000354757.3	+	1	106	c.106G>A	c.(106-108)Gca>Aca	p.A36T	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		36	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTTCTGTGGCAGAAGAAAT	0.542													21	86					0	0	0	0	A	140579453	G	A	140579453	3	1	341	1	0	0	0	0	1	0	0	0	11607	1203	42	4	108	4	PCDHB11	5	140579453	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	271459	140579453	40335807	232	64113											
PCDHB14	56122	broad.mit.edu	37	chr5	140604402	140604402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacataaccgtgctgctctCtgacgtcaatgacaacgccc	11	8	7	15	3	2	2	1	2	1	0	3	2	2	2	2	0	5	2	2	0	4	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:140604402C>G	ENST00000239449.4	+	1	1325	c.1325C>G	c.(1324-1326)tCt>tGt	p.S442C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S289C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		442	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTGCTCTCTGACGTCAAT	0.587													57	193					0	0	0	0	G	140604402	C	G	140604402	3	3	341	1	0	0	0	0	1	0	0	0	11610	913	32	2	1327	2	PCDHB14	5	140604402	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	24949	140604402	40310858	233	64114											
PCDHGA1	56114	broad.mit.edu	37	chr5	140710666	140710666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattccagttagaggaactgGagtttaaaatgaatgaaata	18	11	9	3	0	0	3	0	2	0	1	1	5	1	5	1	2	1	2	1	2	8	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:140710666G>A	ENST00000517417.1	+	1	415	c.415G>A	c.(415-417)Gag>Aag	p.E139K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E139K	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAACTGGAGTTTAAAAT	0.378													66	212					0	0	0	0	A	140710666	G	A	140710666	3	1	341	1	0	0	0	0	1	0	0	0	11621	1175	41	2	417	2	PCDHGA1	5	140710666	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	106264	140710666	40204594	234	64115											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773275	140773275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcttaatgaaaatactGgggaaatatcaatagcaaaa	19	9	7	6	0	1	1	1	1	0	0	2	2	2	2	1	2	3	2	1	2	10	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:140773275G>A	ENST00000398604.2	+	1	895	c.895G>A	c.(895-897)Ggg>Agg	p.G299R	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAAATACTGGGGAAATATC	0.398													38	177					0	0	0	0	A	140773275	G	A	140773275	3	1	341	1	0	0	0	0	1	0	0	0	11631	1348	47	4	897	4	PCDHGA8	5	140773275	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	62609	140773275	40141985	235	64116											
PCDHGA8	9708	broad.mit.edu	37	chr5	140774565	140774565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcctgctccaggattccGgtggcagattggtaggcgtg	6	9	15	11	3	0	1	0	0	0	1	2	2	2	2	3	5	1	3	3	5	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:140774565G>T	ENST00000398604.2	+	1	2185	c.2185G>T	c.(2185-2187)Ggt>Tgt	p.G729C	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGATTCCGGTGGCAGATT	0.602													11	47					0.000673444	0.00070447	1	0	T	140774565	G	T	140774565	3	4	341	1	0	0	0	0	1	0	0	0	11631	1116	39	3	2187	3	PCDHGA8	5	140774565	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1290	140774565	40140695	236	64117											
SH3TC2	79628	broad.mit.edu	37	chr5	148386556	148386556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacagggtcttcaggtagCagtcctcagccatctcatac	9	9	11	12	0	4	0	3	0	2	0	6	1	5	1	2	3	3	2	2	3	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:148386556C>A	ENST00000515425.1	-	16	3664	c.3563G>T	c.(3562-3564)tGc>tTc	p.C1188F	SH3TC2_ENST00000538184.1_3'UTR|SH3TC2_ENST00000502274.1_Missense_Mutation_p.C50F|SH3TC2_ENST00000512049.1_Missense_Mutation_p.C1181F	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1188							binding			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)			CTTCAGGTAGCAGTCCTCAGC	0.547													23	74					8.04996e-18	1.13612e-17	1	0	A	148386556	C	A	148386556	3	1	341	1	0	0	0	0	1	0	0	0	14350	710	25	4	311	4	SH3TC2	5	148386556	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	7611991	148386556	32528704	237	64118											
CYFIP2	26999	broad.mit.edu	37	chr5	156729888	156729888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctggccaaccacaacaGgatcacccaggtgagggcag	11	5	12	13	0	1	1	1	1	0	0	2	2	2	2	4	4	2	2	4	4	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:156729888G>T	ENST00000347377.6	+	7	1087	c.656G>T	c.(655-657)aGg>aTg	p.R219M	CYFIP2_ENST00000318218.6_Missense_Mutation_p.R219M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R219M|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R144M|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000521420.1_Missense_Mutation_p.R193M	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	219					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACCACAACAGGATCACCCAG	0.572													3	9					0.004672	0.00480905	1	0	T	156729888	G	T	156729888	3	4	341	1	0	0	0	0	1	0	0	0	4170	1000	35	4	678	4	CYFIP2	5	156729888	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	8343332	156729888	24185372	238	64119											
ADAM19	8728	broad.mit.edu	37	chr5	156918648	156918648	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggggcataggcccactgtcGatactgcccccgtggcccgg	5	6	15	15	3	0	0	0	0	0	0	1	1	0	0	4	5	2	1	4	5	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:156918648G>C	ENST00000257527.4	-	18	2148	c.2070C>G	c.(2068-2070)atC>atG	p.I690M	ADAM19_ENST00000394020.1_Missense_Mutation_p.I692M|ADAM19_ENST00000517905.1_Missense_Mutation_p.I690M|ADAM19_ENST00000430702.2_Missense_Mutation_p.I423M	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	690					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCCACTGTCGATACTGCCCC	0.637													3	18					0	0	0	0	C	156918648	G	C	156918648	3	2	341	1	0	0	0	0	1	0	0	0	240	1048	37	3	710	3	ADAM19	5	156918648	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	188760	156918648	23996612	239	64120											
RNF145	153830	broad.mit.edu	37	chr5	158588497	158588497	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgccataggccaccacaCagagggccacaagaaactcc	15	2	9	15	1	0	3	0	0	0	3	1	3	1	3	5	2	1	0	5	2	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:158588497C>G	ENST00000424310.2	-	10	1762	c.1403G>C	c.(1402-1404)tGt>tCt	p.C468S	RNF145_ENST00000274542.2_Missense_Mutation_p.C496S|RNF145_ENST00000520638.1_Missense_Mutation_p.C482S|RNF145_ENST00000519865.1_Missense_Mutation_p.C468S|RNF145_ENST00000518802.1_Missense_Mutation_p.C498S|RNF145_ENST00000521606.2_Missense_Mutation_p.C485S|RNF145_ENST00000518284.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	468						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCCACCACACAGAGGGCCAC	0.473													17	74					0	0	0	0	G	158588497	C	G	158588497	3	3	341	1	0	0	0	0	1	0	0	0	13532	478	17	4	596	4	RNF145	5	158588497	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1669849	158588497	22326763	240	64121											
C1QTNF2	114898	broad.mit.edu	37	chr5	159781983	159781983	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgggtcagcagcacaGgggagggcacaggccaggag	11	2	19	9	0	1	0	1	0	0	0	1	2	1	2	1	6	3	4	1	6	0	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:159781983G>A	ENST00000393975.3	-	2	174	c.171C>T	c.(169-171)ccC>ccT	p.P57P		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	12	Collagen-like.					collagen		p.P57P(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCAGCACAGGGGAGGGCAC	0.662													3	9					0	0	0	0	A	159781983	G	A	159781983	2	1	341	1	0	0	0	0	0	0	0	1	1982	987	35	4		4	C1QTNF2	5	159781983	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1193486	159781983	21133277	241	64122											
HMMR	3161	broad.mit.edu	37	chr5	162891728	162891728	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacaattcatttttccgcaGaatctaaacaaaatcttaat	16	14	3	8	1	3	1	1	0	2	1	4	1	4	1	1	0	2	2	1	0	8	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:162891728G>A	ENST00000416990.2	+	3	297		c.e3-1		HMMR_ENST00000353866.3_Splice_Site|HMMR_ENST00000358715.3_Splice_Site|HMMR_ENST00000432118.2_Intron|HMMR_ENST00000393915.4_Splice_Site			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)							cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TTTTTCCGCAGAATCTAAACA	0.333													21	59					0	0	0	0	A	162891728	G	A	162891728	5	1	341	1	0	0	0	0	0	0	1	0	7292	956	33	2	155	2	HMMR	5	162891728	Splice_Site	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	3109745	162891728	18023532	242	64123											
KCNMB1	3779	broad.mit.edu	37	chr5	169805870	169805870	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttcgttcccccgaggTgcggagaagcagtagaagac	9	8	14	10	3	0	3	0	0	0	3	2	5	1	3	2	3	2	4	2	3	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:169805870T>A	ENST00000274629.4	-	4	856	c.414A>T	c.(412-414)gcA>gcT	p.A138A	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	138					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TCCCCCGAGGTGCGGAGAAGC	0.627													15	59					0	0	0	0	A	169805870	T	A	169805870	2	1	341	1	0	0	0	0	0	0	0	1	8127	1683	59	5		5	KCNMB1	5	169805870	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	6914142	169805870	11109390	243	64124											
HMP19	51617	broad.mit.edu	37	chr5	173531322	173531323	+	Frame_Shift_Ins	INS	-	-	A																															acctatgatcacagctgcccINSagagggattcgtctataagg																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:173531322_173531323insA	ENST00000303177.3	+	4	567_568	c.305_306insA	c.(304-306)cgafs	p.R102fs	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Intron	NM_015980.4	NP_057064.1																					CACAGCTGCCCAGAGGGATTCG	0.49													10	53	---	---	---	---					A	173531323	-	A	173531322	7	5	341	1	0	1	1	0	0	0	0	0	7295	594	21	0	315	0	HMP19	5	173531322	Frame_Shift_Ins	INS	-	TCGA-CV-A461-01A-41D-A25Y-08	3725452	173531322	7383938	244	64125											
NSD1	64324	broad.mit.edu	37	chr5	176638343	176638344	+	Frame_Shift_Ins	INS	-	-	G																															ccgccaatcctagccctagtINSgggggtgactctgcattatc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:176638343_176638344insG	ENST00000439151.2	+	5	2988_2989	c.2943_2944insG	c.(2941-2946)agggggfs	p.RG981fs	NSD1_ENST00000354179.4_Frame_Shift_Ins_p.RG712fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.RG878fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.RG712fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	981					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTAGCCCTAGTGGGGGTGACTC	0.515			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			21	99	---	---	---	---					G	176638344	-	G	176638343	7	5	341	1	0	1	1	0	0	0	0	0	10740	1693	59	0	2957	0	NSD1	5	176638343	Frame_Shift_Ins	INS	-	TCGA-CV-A461-01A-41D-A25Y-08	3107021	176638343	4276917	245	64126											
NSD1	64324	broad.mit.edu	37	chr5	176694686	176694686	+	Frame_Shift_Del	DEL	G	G	-																															aggcaaaaagccacactacaGggagattgtctgggtaaaag																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:176694686delG	ENST00000439151.2	+	15	5315	c.5270delG	c.(5269-5271)agfs	p.R1757fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.R1654fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.R1488fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.R1488fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1757	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCACACTACAGGGAGATTGTC	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			32	120	---	---	---	---					-	176694686	G	-	176694686	7	5	341	1	0	1	0	1	0	0	0	0	10740	1000	35	0	5324	0	NSD1	5	176694686	Frame_Shift_Del	DEL	G	TCGA-CV-A461-01A-41D-A25Y-08	56343	176694686	4220574	246	64127											
TBC1D9B	23061	broad.mit.edu	37	chr5	179291042	179291042	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggagcaggaggctggccacGgtggcgatggcgtggtacag	7	5	20	9	4	0	0	0	0	0	0	0	3	0	2	1	8	2	3	1	8	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:179291042G>T	ENST00000356834.3	-	22	3196	c.3159C>A	c.(3157-3159)acC>acA	p.T1053T	TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000519746.1_Silent_p.T212T|TBC1D9B_ENST00000444477.2_Silent_p.T194T|TBC1D9B_ENST00000355235.3_Silent_p.T1036T	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1053						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGGCCACGGTGGCGATGG	0.587													11	58					3.86212e-05	4.22317e-05	1	0	T	179291042	G	T	179291042	2	4	341	1	0	0	0	0	0	0	0	1	15722	1103	39	3		3	TBC1D9B	5	179291042	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2596356	179291042	1624218	247	64128											
CNOT6	57472	broad.mit.edu	37	chr5	179976992	179976992	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctgacagctttgcatttGagtgacaattccctgtcccg	8	12	8	13	1	0	3	0	3	0	0	2	3	2	3	3	0	2	2	3	0	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:179976992G>A	ENST00000393356.1	+	5	598	c.174G>A	c.(172-174)ttG>ttA	p.L58L	CNOT6_ENST00000261951.4_Silent_p.L58L|CNOT6_ENST00000502447.1_3'UTR			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	58					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CTTTGCATTTGAGTGACAATT	0.403													49	177					0	0	0	0	A	179976992	G	A	179976992	2	1	341	1	0	0	0	0	0	0	0	1	3652	1281	45	2		2	CNOT6	5	179976992	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	685950	179976992	938268	248	64129											
BTNL9	153579	broad.mit.edu	37	chr5	180477136	180477136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagggcttcaaggaaggagGcattcagctgaggctcagat	11	8	15	7	0	3	3	3	2	0	1	3	5	3	5	0	5	1	4	0	5	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr5:180477136G>A	ENST00000327705.9	+	4	734	c.503G>A	c.(502-504)gGc>gAc	p.G168D	BTNL9_ENST00000376841.2_Missense_Mutation_p.G168D|BTNL9_ENST00000515271.1_Missense_Mutation_p.G99D|BTNL9_ENST00000376842.3_Missense_Mutation_p.G168D	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	168						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGAAGGAGGCATTCAGCTG	0.582													31	117					0	0	0	0	A	180477136	G	A	180477136	3	1	341	1	0	0	0	0	1	0	0	0	1577	1203	42	4	513	4	BTNL9	5	180477136	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	500144	180477136	438124	249	64130											
KIF13A	63971	broad.mit.edu	37	chr6	17790142	17790142	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatcctcatcatctctCtggtaggaaaaaataaacac	15	10	4	12	0	5	0	3	0	2	0	7	1	6	1	2	2	1	1	2	2	6	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:17790142C>A	ENST00000259711.6	-	26	3328		c.e26-1		KIF13A_ENST00000378814.5_Intron|KIF13A_ENST00000378816.5_Splice_Site|KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000378826.2_Splice_Site	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A						cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATCATCTCTCTGGTAGGAAA	0.383													17	24					3.52763e-06	3.97567e-06	1	0	A	17790142	C	A	17790142	5	1	341	1	0	0	0	0	0	0	1	0	8325	927	32	2	2276	2	KIF13A	6	17790142	Splice_Site	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08		17790142	153324925	250	64131											
DCDC2	51473	broad.mit.edu	37	chr6	24178680	24178680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcctccatttacacgagCagggcgtgcctgctgctcac	6	9	12	14	2	1	0	1	0	0	0	2	1	2	0	3	2	6	3	3	2	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:24178680C>A	ENST00000378454.3	-	9	1505	c.1204G>T	c.(1204-1206)Gct>Tct	p.A402S	DCDC2_ENST00000378450.3_Missense_Mutation_p.A155S	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	402					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TTTACACGAGCAGGGCGTGCC	0.517													53	149					2.43468e-25	3.65676e-25	1	0	A	24178680	C	A	24178680	3	1	341	1	0	0	0	0	1	0	0	0	4317	710	25	4	234	4	DCDC2	6	24178680	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	6388538	24178680	146936387	251	64132											
ZNF184	7738	broad.mit.edu	37	chr6	27419525	27419525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctcctgtatgaattctctTatgctgtgtaaggtgtatgt	7	17	11	6	0	1	1	0	1	1	0	3	1	2	1	1	2	1	5	1	2	5	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:27419525T>C	ENST00000211936.6	-	6	2097	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	ZNF184_ENST00000377419.1_Missense_Mutation_p.K605E	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGAATTCTCTTATGCTGTGTA	0.423													78	78					0	0	0	0	C	27419525	T	C	27419525	3	2	341	1	0	0	0	0	1	0	0	0	17846	1763	61	5	446	5	ZNF184	6	27419525	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	3240845	27419525	143695542	252	64133											
OR2J2	26707	broad.mit.edu	37	chr6	29142110	29142110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagcatgcaatcaaccaCtgggcttcagaaagtgttta	13	10	9	9	0	2	2	2	1	0	1	2	2	2	2	1	1	3	4	1	1	4	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:29142110C>T	ENST00000377167.2	+	1	800	c.698C>T	c.(697-699)aCt>aTt	p.T233I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CAATCAACCACTGGGCTTCAG	0.458													66	81					0	0	0	0	T	29142110	C	T	29142110	3	4	341	1	0	0	0	0	1	0	0	0	11074	565	20	4	700	4	OR2J2	6	29142110	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1722585	29142110	141972957	253	64134											
HLA-A	3105	broad.mit.edu	37	chr6	29911144	29911144	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgacggcaaggattacaTcgccctgaacgaggacctgc	11	6	11	13	4	0	1	0	1	0	0	1	5	0	3	2	3	4	1	2	3	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:29911144T>A	ENST00000396634.1	+	5	784	c.443T>A	c.(442-444)aTc>aAc	p.I148N	HLA-A_ENST00000376809.5_Missense_Mutation_p.I148N|HLA-A_ENST00000376802.2_Missense_Mutation_p.I148N|HLA-A_ENST00000376806.5_Missense_Mutation_p.I148N			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	148	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						AAGGATTACATCGCCCTGAAC	0.642									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			24	17					0	0	0	0	A	29911144	T	A	29911144	3	1	341	1	0	0	0	0	1	0	0	0	7245	1435	50	5	453	5	HLA-A	6	29911144	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	769034	29911144	141203923	254	64135											
VARS2	57176	broad.mit.edu	37	chr6	30883016	30883024	+	Splice_Site	DEL	TAAGTAGAA	TAAGTAGAA	-																															aaacccggtgaaaagaaaggTaagtagaataagtaagaagg																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:30883016_30883024delTAAGTAGAA	ENST00000321897.5	+	2	915		c.e2+2		VARS2_ENST00000541562.1_Splice_Site|VARS2_ENST00000416670.2_Splice_Site|VARS2_ENST00000542001.1_Splice_Site			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial						valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AAAAGAAAGGTAAGTAGAATAAGTAAGAA	0.464													31	163	---	---	---	---					-	30883024	TAAGTAGAA	-	30883016	8	5	341	1	0	1	0	1	0	0	1	0	17220	1652	57	0	385	0	VARS2	6	30883016	Splice_Site	DEL	TAAGTAGAA	TCGA-CV-A461-01A-41D-A25Y-08	971872	30883016	140232051	255	64136											
RXRB	6257	broad.mit.edu	37	chr6	33163691	33163691	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggtcactgacctgcccgCagcaatatgacctgatcatc	11	8	8	14	1	2	3	2	3	0	0	3	3	2	3	3	1	2	2	3	1	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:33163691C>T	ENST00000374680.3	-	6	1327	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	RXRB_ENST00000374685.4_Silent_p.L372L|RXRB_ENST00000544186.1_Silent_p.L182L	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	372	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GACCTGCCCGCAGCAATATGA	0.517													35	27					0	0	0	0	T	33163691	C	T	33163691	2	4	341	1	0	0	0	0	0	0	0	1	13849	697	25	4		4	RXRB	6	33163691	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2280675	33163691	137951376	256	64137											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34803170	34803170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggctatgatgaagtatGcagagtcactgagtgaagcc	13	9	12	7	0	2	5	2	4	0	1	2	5	2	5	1	1	2	3	1	1	5	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:34803170G>A	ENST00000192788.5	+	7	940	c.769G>A	c.(769-771)Gca>Aca	p.A257T	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.A257T	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	257										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GATGAAGTATGCAGAGTCACT	0.493													27	75					0	0	0	0	A	34803170	G	A	34803170	3	1	341	1	0	0	0	0	1	0	0	0	17064	1319	46	4	795	4	UHRF1BP1	6	34803170	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1639479	34803170	136311897	257	64138											
MDGA1	266727	broad.mit.edu	37	chr6	37623650	37623650	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcaccgtctggtgcacCgtcagcattggctcatccag	6	10	10	15	3	4	0	3	0	1	0	6	0	5	0	3	2	2	4	3	2	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:37623650C>A	ENST00000434837.2	-	4	1583	c.405G>T	c.(403-405)acG>acT	p.T135T	MDGA1_ENST00000297153.7_Silent_p.T135T|MDGA1_ENST00000505425.1_Silent_p.T135T	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	135	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TCTGGTGCACCGTCAGCATTG	0.617													6	23					3.59834e-05	3.9459e-05	1	0	A	37623650	C	A	37623650	2	1	341	1	0	0	0	0	0	0	0	1	9475	639	23	3		3	MDGA1	6	37623650	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2820480	37623650	133491417	258	64139											
POLR1C	9533	broad.mit.edu	37	chr6	43488956	43488956	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgttgccaccagatgTgctggtgagtgaagccatca	8	9	16	8	0	1	3	1	2	0	1	1	3	1	3	3	3	3	2	3	3	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:43488956T>A	ENST00000372389.3	+	9	1047	c.959T>A	c.(958-960)gTg>gAg	p.V320E	POLR1C_ENST00000372344.2_Missense_Mutation_p.V270E|POLR1C_ENST00000304004.3_Intron	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	320					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CCACCAGATGTGCTGGTGAGT	0.507													23	97					0	0	0	0	A	43488956	T	A	43488956	3	1	341	1	0	0	0	0	1	0	0	0	12283	1696	59	5	993	5	POLR1C	6	43488956	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	5865306	43488956	127626111	259	64140											
TFAP2D	83741	broad.mit.edu	37	chr6	50683291	50683291	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcctgccagggcccagcCtggggctggccgccgcggga	4	4	17	16	3	0	0	0	0	0	0	1	2	1	1	6	5	2	1	6	5	0	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:50683291C>A	ENST00000008391.3	+	2	730	c.502C>A	c.(502-504)Ctg>Atg	p.L168M		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	168							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGGGCCCAGCCTGGGGCTGGC	0.632													31	139					2.61193e-14	3.49465e-14	1	0	A	50683291	C	A	50683291	3	1	341	1	0	0	0	0	1	0	0	0	15884	680	24	4	508	4	TFAP2D	6	50683291	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	7194335	50683291	120431776	260	64141											
PKHD1	5314	broad.mit.edu	37	chr6	51768499	51768499	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggatgatcacgttgtttcTtattatatttccatgtcctg	7	19	7	8	1	2	1	1	1	1	0	4	2	4	2	2	1	0	2	2	1	3	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:51768499T>A	ENST00000371117.3	-	43	7167	c.6892A>T	c.(6892-6894)Aga>Tga	p.R2298*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.R2298*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2298					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACGTTGTTTCTTATTATATTT	0.408													27	98					0	0	0	0	A	51768499	T	A	51768499	4	1	341	1	0	0	0	0	0	1	0	0	12043	1617	56	5	5471	5	PKHD1	6	51768499	Nonsense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	1085208	51768499	119346568	261	64142											
PKHD1	5314	broad.mit.edu	37	chr6	51892673	51892673	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgctgaaaacttctgtgagGtactggatgtggagatcaac	12	11	12	6	0	2	3	1	2	1	1	2	5	2	4	0	3	4	2	0	3	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:51892673G>A	ENST00000371117.3	-	31	3857	c.3582C>T	c.(3580-3582)taC>taT	p.Y1194Y	PKHD1_ENST00000340994.4_Silent_p.Y1194Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1194					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTCTGTGAGGTACTGGATGT	0.438													17	41					0	0	0	0	A	51892673	G	A	51892673	2	1	341	1	0	0	0	0	0	0	0	1	12043	1256	44	4		4	PKHD1	6	51892673	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	124174	51892673	119222394	262	64143											
KLHL31	401265	broad.mit.edu	37	chr6	53519396	53519396	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actatctcagaaggcaactgTaagtcatcatctataagaag	16	10	7	8	0	4	2	3	0	2	2	5	2	4	2	0	1	1	2	0	1	7	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:53519396T>C	ENST00000370905.3	-	2	815	c.675A>G	c.(673-675)ttA>ttG	p.L225L	KLHL31_ENST00000407079.1_Silent_p.L225L	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	225	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AAGGCAACTGTAAGTCATCAT	0.328													23	94					0	0	0	0	C	53519396	T	C	53519396	2	2	341	1	0	0	0	0	0	0	0	1	8437	1635	57	5		5	KLHL31	6	53519396	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	1626723	53519396	117595671	263	64144											
BAG2	9532	broad.mit.edu	37	chr6	57048775	57048775	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgtcgctctacagtgcAtgttcatctgaggtgccaca	9	13	9	10	1	3	1	1	1	2	0	4	1	3	1	1	1	3	3	1	1	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:57048775A>G	ENST00000370693.5	+	3	795	c.423A>G	c.(421-423)gcA>gcG	p.A141A	BAG2_ENST00000545080.1_Silent_p.A108A	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	141	BAG.				apoptosis|protein folding		protein binding			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCTACAGTGCATGTTCATCTG	0.403													34	154					0	0	0	0	G	57048775	A	G	57048775	2	3	341	1	0	0	0	0	0	0	0	1	1291	204	8	5		5	BAG2	6	57048775	Silent	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	3529379	57048775	114066292	264	64145											
COL19A1	1310	broad.mit.edu	37	chr6	70840116	70840116	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggcctgaaaggagacaagGtaatcagatttttttttttt	12	15	10	4	0	1	3	1	1	0	2	1	5	1	3	1	3	0	1	1	3	3	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:70840116G>A	ENST00000322773.4	+	18	1485		c.e18+1		COL19A1_ENST00000393344.1_Splice_Site	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGAGACAAGGTAATCAGAtt	0.408													11	36					0	0	0	0	A	70840116	G	A	70840116	5	1	341	1	0	0	0	0	0	0	1	0	3706	1275	44	4	1450	4	COL19A1	6	70840116	Splice_Site	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	13791341	70840116	100274951	265	64146											
SIM1	6492	broad.mit.edu	37	chr6	100841583	100841583	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcctcgagtggtcaagCgcaaagccatagcagagaga	14	4	12	11	2	1	2	1	0	0	2	2	4	1	2	3	1	4	2	3	1	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:100841583C>A	ENST00000369208.3	-	11	2132	c.1350G>T	c.(1348-1350)gcG>gcT	p.A450A	SIM1_ENST00000262901.4_Silent_p.A450A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	450	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGTGGTCAAGCGCAAAGCCAT	0.622													43	69					4.67007e-22	6.89348e-22	1	0	A	100841583	C	A	100841583	2	1	341	1	0	0	0	0	0	0	0	1	14411	755	27	3		3	SIM1	6	100841583	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	30001467	100841583	70273484	266	64147											
GRIK2	2898	broad.mit.edu	37	chr6	102483440	102483440	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatggcgttggcactcccatGggtaggttatatgtcagctc	7	13	12	9	1	1	0	1	0	0	0	3	0	2	0	1	4	1	5	1	4	4	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:102483440G>T	ENST00000369138.1	+	14	2800	c.2311_splice	c.e14+1	p.M770_splice	GRIK2_ENST00000369134.4_Splice_Site_p.M721_splice|GRIK2_ENST00000421544.1_Splice_Site_p.M770_splice|GRIK2_ENST00000318991.6_Splice_Site_p.M770_splice|GRIK2_ENST00000369137.3_Splice_Site_p.M694_splice|GRIK2_ENST00000413795.1_Splice_Site_p.M770_splice	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	770					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GCACTCCCATGGGTAGGTTAT	0.438													94	85					2.06477e-34	3.1753e-34	1	0	T	102483440	G	T	102483440	5	4	341	1	0	0	0	0	0	0	1	0	6824	1362	47	4	2364	4	GRIK2	6	102483440	Splice_Site	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1641857	102483440	68631627	267	64148											
LIN28B	389421	broad.mit.edu	37	chr6	105406081	105406081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtaagtggttcaatgtgCgcatgggatttggattcatc	9	14	12	6	1	2	0	2	0	0	0	3	2	2	2	0	3	1	3	0	3	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:105406081C>A	ENST00000345080.4	+	2	321	c.118C>A	c.(118-120)Cgc>Agc	p.R40S		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	40	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				GTTCAATGTGCGCATGGGATT	0.512													62	72					7.22619e-39	1.1202e-38	1	0	A	105406081	C	A	105406081	3	1	341	1	0	0	0	0	1	0	0	0	8861	768	27	3	124	3	LIN28B	6	105406081	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2922641	105406081	65708986	268	64149											
LAMA2	3908	broad.mit.edu	37	chr6	129837451	129837451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaattttgccaaggccctgGaactgaggggcgttcaacct	9	11	11	10	1	1	1	1	1	0	0	1	2	1	2	3	4	3	1	3	4	4	4	rs140829166		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:129837451G>A	ENST00000421865.2	+	65	9377	c.9328G>A	c.(9328-9330)Gaa>Aaa	p.E3110K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3110	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAAGGCCCTGGAACTGAGGGG	0.463													53	60					0	0	0	0	A	129837451	G	A	129837451	3	1	341	1	0	0	0	0	1	0	0	0	8659	1175	41	2	9586	2	LAMA2	6	129837451	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	24431370	129837451	41277616	269	64150											
EYA4	2070	broad.mit.edu	37	chr6	133846196	133846196	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagtgtccagatttggcacTaacataacttatgttgtgat	12	15	8	6	0	0	2	0	1	0	1	1	2	1	2	1	1	2	2	1	1	4	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:133846196T>C	ENST00000355167.3	+	19	2240	c.1782T>C	c.(1780-1782)acT>acC	p.T594T	EYA4_ENST00000531901.1_Intron|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000367895.5_Intron|EYA4_ENST00000430974.2_Silent_p.T546T|EYA4_ENST00000431403.2_Silent_p.T594T|EYA4_ENST00000525849.1_Silent_p.T571T|EYA4_ENST00000452339.2_Silent_p.T540T|RP3-323P13.2_ENST00000607033.1_RNA	NM_172105.3	NP_742103.1	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	594					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GATTTGGCACTAACATAACTT	0.408													21	86					0	0	0	0	C	133846196	T	C	133846196	2	2	341	1	0	0	0	0	0	0	0	1	5369	1509	53	5		5	EYA4	6	133846196	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	4008745	133846196	37268871	270	64151											
LPA	4018	broad.mit.edu	37	chr6	160977161	160977161	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggagaatgtgcctcgataActctggccattaccatggta	10	11	11	9	1	1	1	0	0	1	1	2	3	1	1	3	3	3	1	3	3	4	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:160977161A>T	ENST00000447678.1	-	31	4989	c.4869T>A	c.(4867-4869)agT>agA	p.S1623R	LPA_ENST00000316300.5_Missense_Mutation_p.S1623R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4131	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGCCTCGATAACTCTGGCCAT	0.488													35	124					0	0	0	0	T	160977161	A	T	160977161	3	4	341	1	0	0	0	0	1	0	0	0	8967	40	2	5	1293	5	LPA	6	160977161	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	27130965	160977161	10137906	271	64152											
LPA	4018	broad.mit.edu	37	chr6	161007653	161007653	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggattcctgcagtagttcctGgtcaggccactgcaaattcc	8	11	10	12	0	1	0	1	0	0	0	4	1	4	1	4	3	2	4	4	3	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:161007653G>C	ENST00000447678.1	-	26	4077	c.3957C>G	c.(3955-3957)acC>acG	p.T1319T	LPA_ENST00000316300.5_Silent_p.T1319T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3827	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTAGTTCCTGGTCAGGCCAC	0.478													31	50					0	0	0	0	C	161007653	G	C	161007653	2	2	341	1	0	0	0	0	0	0	0	1	8967	1335	47	4		4	LPA	6	161007653	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	30492	161007653	10107414	272	64153											
PACRG	135138	broad.mit.edu	37	chr6	163735916	163735916	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggagaacattggggactTgatccaggagacactggagg	12	6	17	6	0	0	3	0	1	0	2	1	8	1	5	1	6	1	0	1	6	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:163735916T>A	ENST00000337019.3	+	7	1012	c.788T>A	c.(787-789)tTg>tAg	p.L263*	PACRG_ENST00000366889.2_Nonsense_Mutation_p.L224*|PACRG_ENST00000366888.2_Nonsense_Mutation_p.L224*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	263										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		ATTGGGGACTTGATCCAGGAG	0.507													14	59					0	0	0	0	A	163735916	T	A	163735916	4	1	341	1	0	0	0	0	0	1	0	0	11441	1821	63	5	810	5	PACRG	6	163735916	Nonsense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	2728263	163735916	7379151	273	64154											
RPS6KA2	6196	broad.mit.edu	37	chr6	166873037	166873037	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatctccttccggtacagCgtctattaatacaaggaaag	12	12	8	9	2	2	1	0	1	2	0	4	2	3	2	2	2	3	1	2	2	6	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:166873037C>G	ENST00000510118.1	-	14	1390	c.1050G>C	c.(1048-1050)acG>acC	p.T350T	RPS6KA2_ENST00000265678.4_Silent_p.T325T|RPS6KA2_ENST00000503859.1_Silent_p.T333T|RPS6KA2_ENST00000481261.2_Silent_p.T236T|RPS6KA2_ENST00000405189.3_Silent_p.T236T			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	325	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCCGGTACAGCGTCTATTAAT	0.562													7	24					0	0	0	0	G	166873037	C	G	166873037	2	3	341	1	0	0	0	0	0	0	0	1	13736	755	27	3		3	RPS6KA2	6	166873037	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3137121	166873037	4242030	274	64155											
KIF25	3834	broad.mit.edu	37	chr6	168440828	168440828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccccaccctggtgcacgCggattcctccaggtctcacc	6	7	9	19	2	1	0	1	0	1	0	4	1	3	1	6	3	1	2	6	3	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:168440828C>T	ENST00000443060.2	+	7	969	c.578C>T	c.(577-579)gCg>gTg	p.A193V	KIF25_ENST00000354419.2_Missense_Mutation_p.A193V|KIF25_ENST00000351261.3_Missense_Mutation_p.A193V			Q9UIL4	KIF25_HUMAN	kinesin family member 25	193	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTGGTGCACGCGGATTCCTCC	0.572													35	64					0	0	0	0	T	168440828	C	T	168440828	3	4	341	1	0	0	0	0	1	0	0	0	8344	768	27	1	596	1	KIF25	6	168440828	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1567791	168440828	2674239	275	64156											
THBS2	7058	broad.mit.edu	37	chr6	169620339	169620339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatagaccatttcttgagaGaagacaaatagacccagccg	17	7	8	9	1	1	5	0	1	1	4	1	6	1	5	3	0	1	0	3	0	5	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr6:169620339G>T	ENST00000366787.3	-	22	3714	c.3465C>A	c.(3463-3465)ttC>ttA	p.F1155L	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1155	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTTCTTGAGAGAAGACAAATA	0.488													49	317					3.7052e-28	5.63074e-28	1	0	T	169620339	G	T	169620339	3	4	341	1	0	0	0	0	1	0	0	0	15948	933	33	2	61	2	THBS2	6	169620339	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1179511	169620339	1494728	276	64157											
SDK1	221935	broad.mit.edu	37	chr7	3658737	3658737	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgctccatattttaaaacGgagccaggcctaccacagat	12	10	8	11	1	0	1	0	0	0	1	1	2	1	2	4	2	4	2	4	2	4	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:3658737G>T	ENST00000404826.2	+	2	463	c.324G>T	c.(322-324)acG>acT	p.T108T	SDK1_ENST00000389531.3_Silent_p.T108T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	108	Ig-like C2-type 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATTTTAAAACGGAGCCAGGCC	0.438													7	19					1.6384e-10	2.04999e-10	1	0	T	3658737	G	T	3658737	2	4	341	1	0	0	0	0	0	0	0	1	14055	1103	39	3		3	SDK1	7	3658737	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08		3658737	155479926	277	64158											
THSD7A	221981	broad.mit.edu	37	chr7	11676005	11676005	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attgagcaggtgctccagggCcccacatgcaggctgtacct	8	8	12	13	0	0	1	0	1	0	0	1	1	1	1	4	3	4	5	4	3	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:11676005C>A	ENST00000423059.3	-	2	1025	c.774G>T	c.(772-774)ggG>ggT	p.G258G		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	258						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGCTCCAGGGCCCCACATGCA	0.582										HNSCC(18;0.044)			22	81					2.37509e-13	3.12896e-13	1	0	A	11676005	C	A	11676005	2	1	341	1	0	0	0	0	0	0	0	1	15973	726	26	4		4	THSD7A	7	11676005	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	8017268	11676005	147462658	278	64159											
HDAC9	9734	broad.mit.edu	37	chr7	18705910	18705910	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagaggaagagcttcagggGgaccaggcgatgcaggaaga	13	3	18	7	1	1	3	1	0	0	3	1	7	1	6	1	5	2	3	1	5	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:18705910G>T	ENST00000406451.3	+	12	1683	c.1533G>T	c.(1531-1533)ggG>ggT	p.G511G	HDAC9_ENST00000428307.2_Silent_p.G467G|HDAC9_ENST00000417496.2_Silent_p.G509G|HDAC9_ENST00000456174.2_Silent_p.G483G|HDAC9_ENST00000406072.1_Silent_p.G498G|HDAC9_ENST00000441542.2_Silent_p.G514G|HDAC9_ENST00000401921.1_Silent_p.G470G|HDAC9_ENST00000432645.2_Silent_p.G511G|HDAC9_ENST00000405010.3_Silent_p.G511G|HDAC9_ENST00000524023.1_Silent_p.G434G	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	511					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCTTCAGGGGGACCAGGCGA	0.537											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	119					1.36615e-20	1.98619e-20	1	0	T	18705910	G	T	18705910	2	4	341	1	0	0	0	0	0	0	0	1	7064	1219	43	4		4	HDAC9	7	18705910	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	7029905	18705910	140432753	279	64160											
ABCB5	340273	broad.mit.edu	37	chr7	20744406	20744406	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgacaacaatattagcCatagatatagcacaaattca	17	10	6	8	0	1	2	1	1	0	1	1	2	1	2	1	1	3	2	1	1	8	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:20744406C>A	ENST00000404938.2	+	20	3049	c.2397C>A	c.(2395-2397)gcC>gcA	p.A799A	ABCB5_ENST00000258738.6_Silent_p.A354A	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	354	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAATATTAGCCATAGATATAG	0.353													13	49					4.36969e-10	5.39744e-10	1	0	A	20744406	C	A	20744406	2	1	341	1	0	0	0	0	0	0	0	1	44	581	21	4		4	ABCB5	7	20744406	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2038496	20744406	138394257	280	64161											
DDX56	54606	broad.mit.edu	37	chr7	44611157	44611157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactgttccaagaacaggCgtagccggtaactccgttct	10	10	10	11	3	1	2	0	1	1	1	3	2	3	2	3	2	4	4	3	2	5	4	rs41279636	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:44611157C>T	ENST00000258772.5	-	6	930	c.824G>A	c.(823-825)cGc>cAc	p.R275H	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R275H	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	275	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CAAGAACAGGCGTAGCCGGTA	0.512													28	88					0	0	0	0	T	44611157	C	T	44611157	3	4	341	1	0	0	0	0	1	0	0	0	4406	768	27	1	855	1	DDX56	7	44611157	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	23866751	44611157	114527506	281	64162											
COBL	23242	broad.mit.edu	37	chr7	51097257	51097257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatggagctggtgagggaGctggtgtctgtttcatagct	6	13	17	5	0	2	1	1	1	1	0	2	4	2	4	0	5	3	4	0	5	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:51097257G>T	ENST00000395542.2	-	12	1966	c.1782C>A	c.(1780-1782)agC>agA	p.S594R	COBL_ENST00000265136.7_Missense_Mutation_p.S512R			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	512										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGTGAGGGAGCTGGTGTCTG	0.498													18	72					4.96729e-08	5.84565e-08	1	0	T	51097257	G	T	51097257	3	4	341	1	0	0	0	0	1	0	0	0	3683	962	34	4	2265	4	COBL	7	51097257	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	6486100	51097257	108041406	282	64163											
AUTS2	26053	broad.mit.edu	37	chr7	70255882	70255883	+	Frame_Shift_Ins	INS	-	-	G																															cccccgctcatctccacgctINSggggggccgcccggtctctc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:70255882_70255883insG	ENST00000342771.4	+	19	4001_4002	c.3680_3681insG	c.(3679-3681)cggfs	p.R1227fs	AUTS2_ENST00000406775.2_Frame_Shift_Ins_p.R1203fs	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1227										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ATCTCCACGCTGGGGGGCCGCC	0.653													8	52	---	---	---	---					G	70255883	-	G	70255882	7	5	341	1	0	1	1	0	0	0	0	0	1229	1580	55	0	3899	0	AUTS2	7	70255882	Frame_Shift_Ins	INS	-	TCGA-CV-A461-01A-41D-A25Y-08	19158625	70255882	88882781	283	64164											
CCDC146	57639	broad.mit.edu	37	chr7	76797071	76797071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccatttatgccatagtgcCcacaattaacattcaagatg	13	11	6	11	0	1	1	1	0	0	1	1	1	1	1	3	0	3	0	3	0	5	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:76797071C>A	ENST00000285871.4	+	2	213	c.86C>A	c.(85-87)cCc>cAc	p.P29H	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	29										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GCCATAGTGCCCACAATTAAC	0.358													9	105					0.00400662	0.00415183	1	0	A	76797071	C	A	76797071	3	1	341	1	0	0	0	0	1	0	0	0	2805	623	22	4	88	4	CCDC146	7	76797071	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	6541189	76797071	82341592	284	64165											
GNAI1	2770	broad.mit.edu	37	chr7	79828564	79828564	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcacgccaactctttgtGctagctggagctgctgaaga	9	10	12	10	1	1	2	0	1	1	1	1	4	1	3	1	1	6	5	1	1	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:79828564G>T	ENST00000351004.3	+	4	700	c.327G>T	c.(325-327)gtG>gtT	p.V109V	GNAI1_ENST00000457358.2_Silent_p.V57V	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	109					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AACTCTTTGTGCTAGCTGGAG	0.398													26	84					0.000117367	0.000126901	1	0	T	79828564	G	T	79828564	2	4	341	1	0	0	0	0	0	0	0	1	6555	1306	46	4		4	GNAI1	7	79828564	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	3031493	79828564	79310099	285	64166											
CD36	948	broad.mit.edu	37	chr7	80303408	80303408	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagtgttggtgtggtgaTgtttgttgcttttatgattt	5	21	12	3	0	1	2	1	2	0	0	1	2	1	2	0	2	1	4	0	2	1	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:80303408T>A	ENST00000435819.1	+	17	2048	c.1364T>A	c.(1363-1365)aTg>aAg	p.M455K	CD36_ENST00000447544.2_Missense_Mutation_p.M455K|CD36_ENST00000309881.7_Missense_Mutation_p.M455K|CD36_ENST00000538969.1_Missense_Mutation_p.M395K|CD36_ENST00000534394.1_Missense_Mutation_p.M379K|CD36_ENST00000433696.2_Missense_Mutation_p.M416K|CD36_ENST00000394788.3_Missense_Mutation_p.M455K|CD36_ENST00000432207.1_Missense_Mutation_p.M455K|CD36_ENST00000544133.1_3'UTR			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	455					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GGTGTGGTGATGTTTGTTGCT	0.323													11	47					0	0	0	0	A	80303408	T	A	80303408	3	1	341	1	0	0	0	0	1	0	0	0	3036	1464	51	5	1410	5	CD36	7	80303408	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	474844	80303408	78835255	286	64167											
CACNA2D1	781	broad.mit.edu	37	chr7	81589061	81589061	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccgcttgtatgagcagTcgtgtgtcacatggacatgt	7	13	12	9	2	1	1	1	1	0	0	3	2	2	2	1	1	2	4	1	1	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:81589061T>C	ENST00000356860.3	-	37	3389	c.3051A>G	c.(3049-3051)cgA>cgG	p.R1017R	CACNA2D1_ENST00000356253.5_Silent_p.R1029R|CACNA2D1_ENST00000535308.1_Silent_p.R229R	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1029						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTATGAGCAGTCGTGTGTCAC	0.368													13	51					0	0	0	0	C	81589061	T	C	81589061	2	2	341	1	0	0	0	0	0	0	0	1	2573	1654	58	5		5	CACNA2D1	7	81589061	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	1285653	81589061	77549602	287	64168											
SEMA3D	223117	broad.mit.edu	37	chr7	84649575	84649575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctgcaactcctccagcaCtacctcttccatattccact	9	13	2	17	0	2	0	0	0	2	0	6	0	6	0	5	0	4	2	5	0	4	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:84649575C>A	ENST00000284136.6	-	12	1520	c.1477G>T	c.(1477-1479)Gtg>Ttg	p.V493L	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	493	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCCTCCAGCACTACCTCTTCC	0.418													14	52					3.45872e-05	3.81993e-05	1	0	A	84649575	C	A	84649575	3	1	341	1	0	0	0	0	1	0	0	0	14114	565	20	4	880	4	SEMA3D	7	84649575	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3060514	84649575	74489088	288	64169											
ABCB4	5244	broad.mit.edu	37	chr7	87083894	87083894	+	Frame_Shift_Del	DEL	A	A	-																															tttgcctggatttagcagcgAcaaggaaaagttcactaaat																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:87083894delA	ENST00000265723.4	-	5	412	c.301delT	c.(301-303)cgfs	p.S101fs	ABCB4_ENST00000545634.1_Frame_Shift_Del_p.S101fs|ABCB4_ENST00000359206.3_Frame_Shift_Del_p.S101fs|ABCB4_ENST00000453593.1_Frame_Shift_Del_p.S101fs|ABCB4_ENST00000358400.3_Frame_Shift_Del_p.S101fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	101	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTTAGCAGCGACAAGGAAAAG	0.259													11	47	---	---	---	---					-	87083894	A	-	87083894	7	5	341	1	0	1	0	1	0	0	0	0	43	275	10	0	3655	0	ABCB4	7	87083894	Frame_Shift_Del	DEL	A	TCGA-CV-A461-01A-41D-A25Y-08	2434319	87083894	72054769	289	64170											
STEAP4	79689	broad.mit.edu	37	chr7	87912010	87912010	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataatatcgaataggaatCacaagtgtgtagaggacatg	17	9	10	5	1	1	1	1	0	0	1	2	4	1	3	0	2	0	1	0	2	7	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:87912010C>A	ENST00000380079.4	-	3	1031	c.930G>T	c.(928-930)gtG>gtT	p.V310V	STEAP4_ENST00000414498.1_Silent_p.V310V|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	310	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GAATAGGAATCACAAGTGTGT	0.443													12	66					2.27111e-07	2.64051e-07	1	0	A	87912010	C	A	87912010	2	1	341	1	0	0	0	0	0	0	0	1	15370	813	29	2		2	STEAP4	7	87912010	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	828116	87912010	71226653	290	64171											
PPP1R9A	55607	broad.mit.edu	37	chr7	94540233	94540233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgaggtgttgatacagagGatgctcacaagagtaatgca	14	8	13	6	1	1	3	1	1	0	2	1	5	1	4	0	2	4	4	0	2	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:94540233G>T	ENST00000289495.5	+	1	1024	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D270Y|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D270Y	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	270						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGATACAGAGGATGCTCACAA	0.443										HNSCC(28;0.073)			15	58					0.00244969	0.00254531	1	0	T	94540233	G	T	94540233	3	4	341	1	0	0	0	0	1	0	0	0	12454	1174	41	2	810	2	PPP1R9A	7	94540233	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	6628223	94540233	64598430	291	64172											
TRRAP	8295	broad.mit.edu	37	chr7	98608777	98608777	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgccacggactactggAcgttccggaagatgttcacc	10	8	10	13	3	1	1	1	0	0	1	2	4	2	4	4	3	2	2	4	3	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:98608777A>T	ENST00000359863.4	+	70	11208	c.10999A>T	c.(10999-11001)Acg>Tcg	p.T3667S	TRRAP_ENST00000355540.3_Missense_Mutation_p.T3638S|TRRAP_ENST00000446306.3_Missense_Mutation_p.T3656S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3667	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGACTACTGGACGTTCCGGAA	0.552													34	73					0	0	0	0	T	98608777	A	T	98608777	3	4	341	1	0	0	0	0	1	0	0	0	16696	275	10	5	11182	5	TRRAP	7	98608777	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	4068544	98608777	60529886	292	64173											
SLC12A9	56996	broad.mit.edu	37	chr7	100451998	100451998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catagttgtttttctgaggaTtggtgagtgggtcctggggc	5	15	16	5	0	1	2	0	2	1	0	2	3	2	3	1	5	0	2	1	5	1	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:100451998T>C	ENST00000354161.3	+	2	304	c.179T>C	c.(178-180)aTt>aCt	p.I60T	SLC12A9_ENST00000275729.3_Missense_Mutation_p.I60T|SLC12A9_ENST00000428758.1_Missense_Mutation_p.I60T|SLC12A9_ENST00000415287.1_Missense_Mutation_p.I60T|SLC12A9_ENST00000540482.1_Missense_Mutation_p.I60T	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	60						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTTCTGAGGATTGGTGAGTGG	0.587													10	32					0	0	0	0	C	100451998	T	C	100451998	3	2	341	1	0	0	0	0	1	0	0	0	14478	1493	52	5	181	5	SLC12A9	7	100451998	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	1843221	100451998	58686665	293	64174											
MYL10	93408	broad.mit.edu	37	chr7	101266281	101266281	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggctcacccacccagCgcggcaaaggtgtccctcaa	8	6	10	17	2	2	0	2	0	0	0	3	0	3	0	3	3	2	3	3	3	2	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:101266281C>A	ENST00000223167.4	-	4	522	c.345G>T	c.(343-345)gcG>gcT	p.A115A		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	115	EF-hand 1.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						ACCCACCCAGCGCGGCAAAGG	0.622													8	33					7.48243e-07	8.58311e-07	1	0	A	101266281	C	A	101266281	2	1	341	1	0	0	0	0	0	0	0	1	10114	755	27	3		3	MYL10	7	101266281	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	814283	101266281	57872382	294	64175											
CTTNBP2	83992	broad.mit.edu	37	chr7	117450912	117450912	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgcttcaaggatggagagGgggttggtacaaactggctt	10	10	15	6	0	1	1	1	0	0	1	1	3	1	2	0	6	3	4	0	6	3	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:117450912G>C	ENST00000160373.3	-	3	412	c.321C>G	c.(319-321)ccC>ccG	p.P107P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	107										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGATGGAGAGGGGGTTGGTAC	0.493													58	200					0	0	0	0	C	117450912	G	C	117450912	2	2	341	1	0	0	0	0	0	0	0	1	4077	1219	43	4		4	CTTNBP2	7	117450912	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	16184631	117450912	41687751	295	64176											
FEZF1	389549	broad.mit.edu	37	chr7	121943707	121943707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctttccacacacttcgCaagtgaaaactttgggcttg	9	13	8	11	1	0	1	0	1	0	0	2	1	1	1	2	1	2	2	2	1	3	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:121943707C>A	ENST00000442488.2	-	1	852	c.785G>T	c.(784-786)tGc>tTc	p.C262F	FEZF1_ENST00000331178.4_Missense_Mutation_p.C262F|FEZF1_ENST00000427185.2_Missense_Mutation_p.C212F	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	262					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ACACACTTCGCAAGTGAAAAC	0.512													31	116					2.70662e-09	3.28539e-09	1	0	A	121943707	C	A	121943707	3	1	341	1	0	0	0	0	1	0	0	0	5870	710	25	4	658	4	FEZF1	7	121943707	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	4492795	121943707	37194956	296	64177											
GRM8	2918	broad.mit.edu	37	chr7	126883063	126883063	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccttttccttcttcagctCcccacaaggcacccctctct	5	12	3	21	0	3	0	1	0	2	0	6	0	5	0	7	1	1	2	7	1	1	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:126883063C>A	ENST00000339582.2	-	2	1004	c.196G>T	c.(196-198)Gag>Tag	p.E66*	GRM8_ENST00000444921.2_Nonsense_Mutation_p.E66*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.E66*|GRM8_ENST00000405249.1_Nonsense_Mutation_p.E66*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	66					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTCTTCAGCTCCCCACAAGGC	0.527										HNSCC(24;0.065)			34	60					1.61788e-16	2.23435e-16	1	0	A	126883063	C	A	126883063	4	1	341	1	0	0	0	0	0	1	0	0	6853	864	30	2	2620	2	GRM8	7	126883063	Nonsense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	4939356	126883063	32255600	297	64178											
ZNF800	168850	broad.mit.edu	37	chr7	127013772	127013772	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgactttttatgaaccaCagttatatgtcgtatcacat	13	15	6	7	1	1	3	1	2	0	1	2	3	1	3	1	0	1	2	1	0	5	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:127013772C>G	ENST00000393313.1	-	5	2209	c.1618G>C	c.(1618-1620)Gtg>Ctg	p.V540L	ZNF800_ENST00000265827.3_Missense_Mutation_p.V540L|ZNF800_ENST00000393312.1_Missense_Mutation_p.V540L			Q2TB10	ZN800_HUMAN	zinc finger protein 800	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V540M(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTATGAACCACAGTTATATGT	0.348													39	127					0	0	0	0	G	127013772	C	G	127013772	3	3	341	1	0	0	0	0	1	0	0	0	18262	478	17	4	384	4	ZNF800	7	127013772	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	130709	127013772	32124891	298	64179											
PLXNA4	91584	broad.mit.edu	37	chr7	131913158	131913158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatggaccgtcagccggaCacactgcttcatctccgagg	8	7	13	13	3	3	0	2	0	1	0	4	4	3	3	3	4	2	1	3	4	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:131913158C>A	ENST00000359827.3	-	6	2637	c.1675G>T	c.(1675-1677)Gtc>Ttc	p.V559F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V559F			Q9HCM2	PLXA4_HUMAN	plexin A4	559	PSI 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTCAGCCGGACACACTGCTTC	0.592													9	64					7.48243e-07	8.58311e-07	1	0	A	131913158	C	A	131913158	3	1	341	1	0	0	0	0	1	0	0	0	12194	478	17	4	4117	4	PLXNA4	7	131913158	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	4899386	131913158	27225505	299	64180											
CREB3L2	64764	broad.mit.edu	37	chr7	137613070	137613070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggatcattcaggagctgacCcaagacgttctgggaaaact	13	8	11	9	1	3	2	2	1	1	1	3	5	3	5	1	3	2	2	1	3	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:137613070C>A	ENST00000330387.6	-	2	496	c.145G>T	c.(145-147)Ggt>Tgt	p.G49C	CREB3L2_ENST00000458726.1_5'UTR|CREB3L2_ENST00000452463.1_Missense_Mutation_p.G49C|CREB3L2_ENST00000456390.1_Missense_Mutation_p.G49C	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	49					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGGAGCTGACCCAAGACGTTC	0.498			T	FUS	fibromyxoid sarcoma								7	26					0.000157383	0.00016875	1	0	A	137613070	C	A	137613070	3	1	341	1	0	0	0	0	1	0	0	0	3887	623	22	4	1461	4	CREB3L2	7	137613070	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	5699912	137613070	21525593	300	64181											
BRAF	673	broad.mit.edu	37	chr7	140449176	140449176	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcatatacatctgactgaaAgctgtatggatttttatctt	11	17	7	6	0	2	2	0	2	2	0	2	3	2	3	0	1	3	3	0	1	5	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:140449176A>T	ENST00000288602.6	-	16	1963	c.1903T>A	c.(1903-1905)Ttt>Att	p.F635I		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	635	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCTGACTGAAAGCTGTATGGA	0.328		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	77					0	0	0	0	T	140449176	A	T	140449176	3	4	341	1	0	0	0	0	1	0	0	0	1504	72	3	5	409	5	BRAF	7	140449176	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	2836106	140449176	18689487	301	64182											
WEE2	494551	broad.mit.edu	37	chr7	141420826	141420826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatgggcagaagatgacCacatgatcattcagaatgaa	15	8	9	9	0	3	6	3	3	0	3	3	6	3	6	2	1	0	1	2	1	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:141420826C>T	ENST00000397541.2	+	5	1256	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	284	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGAAGATGACCACATGATCAT	0.408													31	145					0	0	0	0	T	141420826	C	T	141420826	3	4	341	1	0	0	0	0	1	0	0	0	17441	594	21	4	868	4	WEE2	7	141420826	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	971650	141420826	17717837	302	64183											
TAS2R41	259287	broad.mit.edu	37	chr7	143175436	143175436	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaactaccctgtatatcaAgaatttttaattagaaaatt	16	15	5	5	0	1	3	1	1	0	2	1	3	1	3	1	0	2	1	1	0	10	8			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:143175436A>G	ENST00000408916.1	+	1	471	c.471A>G	c.(469-471)caA>caG	p.Q157Q	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	157					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTGTATATCAAGAATTTTTAA	0.438													20	55					0	0	0	0	G	143175436	A	G	143175436	2	3	341	1	0	0	0	0	0	0	0	1	15670	69	3	5		5	TAS2R41	7	143175436	Silent	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	1754610	143175436	15963227	303	64184											
OR2F1	26211	broad.mit.edu	37	chr7	143657178	143657178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcatgtatgtggtgaccGtgctggggaactgtctcatt	6	14	14	7	1	2	1	2	1	1	0	3	2	2	2	1	4	2	2	1	4	2	2	rs141187562	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:143657178G>A	ENST00000392899.1	+	1	152	c.115G>A	c.(115-117)Gtg>Atg	p.V39M		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGTGGTGACCGTGCTGGGGAA	0.522													51	280					0	0	0	0	A	143657178	G	A	143657178	3	1	341	1	0	0	0	0	1	0	0	0	11067	1145	40	1	117	1	OR2F1	7	143657178	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	481742	143657178	15481485	304	64185											
OR2A12	346525	broad.mit.edu	37	chr7	143793017	143793017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagaacggaggaagatcCtttccctgttttacagcctt	10	12	8	11	1	1	2	1	0	0	2	3	4	3	4	3	2	3	1	3	2	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:143793017C>A	ENST00000408949.2	+	1	877	c.817C>A	c.(817-819)Ctt>Att	p.L273I		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GAGGAAGATCCTTTCCCTGTT	0.522													110	336					1.98007e-57	3.08812e-57	1	0	A	143793017	C	A	143793017	3	1	341	1	0	0	0	0	1	0	0	0	11046	681	24	4	819	4	OR2A12	7	143793017	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	135839	143793017	15345646	305	64186											
FASTK	10922	broad.mit.edu	37	chr7	150776769	150776769	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtagtggtgggcgcgcaccTtgctggggttctggcccagc	4	9	17	11	2	1	0	0	0	1	0	1	0	1	0	2	5	2	4	2	5	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:150776769T>G	ENST00000540185.1	-	2	825	c.221A>C	c.(220-222)aAg>aCg	p.K74T	FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.K108T|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000297532.6_Missense_Mutation_p.K108T			Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	108					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGCGCGCACCTTGCTGGGGTT	0.687													6	19					0	0	0	0	G	150776769	T	G	150776769	3	3	341	1	0	0	0	0	1	0	0	0	5729	1609	56	5	1362	5	FASTK	7	150776769	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	6983752	150776769	8361894	306	64187											
VIPR2	7434	broad.mit.edu	37	chr7	158829530	158829530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtagagcccctccaccaGcagccagaagaagttggcca	12	4	12	13	0	0	3	0	0	0	3	1	4	1	3	6	2	3	3	6	2	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr7:158829530G>T	ENST00000262178.2	-	7	846	c.661C>A	c.(661-663)Ctg>Atg	p.L221M	VIPR2_ENST00000402066.1_Missense_Mutation_p.L362M|VIPR2_ENST00000377633.3_Missense_Mutation_p.L205M	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	221					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCCTCCACCAGCAGCCAGAAG	0.597													14	57					4.36969e-10	5.39744e-10	1	0	T	158829530	G	T	158829530	3	4	341	1	0	0	0	0	1	0	0	0	17266	962	34	4	683	4	VIPR2	7	158829530	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	8052761	158829530	309133	307	64188											
MYOM2	9172	broad.mit.edu	37	chr8	2033444	2033444	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcacgcttccgagatCagcagaaactatgtcgtcct	9	10	11	11	3	1	2	1	0	0	2	4	3	3	2	2	1	3	3	2	1	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:2033444C>A	ENST00000262113.4	+	14	1707	c.1566C>A	c.(1564-1566)atC>atA	p.I522I	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	522	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTTCCGAGATCAGCAGAAACT	0.592													18	61					1.99824e-07	2.32675e-07	1	0	A	2033444	C	A	2033444	2	1	341	1	0	0	0	0	0	0	0	1	10162	816	29	2		2	MYOM2	8	2033444	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08		2033444	144330578	308	64189											
DEFA5	1670	broad.mit.edu	37	chr8	6913049	6913049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggttcggcaatagcaggtGgctcttgcctgagaacctgt	7	10	13	11	2	1	1	0	1	1	1	2	2	1	1	3	4	3	4	3	4	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:6913049G>A	ENST00000330590.2	-	2	225	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	63					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AATAGCAGGTGGCTCTTGCCT	0.557													7	16					0	0	0	0	A	6913049	G	A	6913049	2	1	341	1	0	0	0	0	0	0	0	1	4424	1335	47	4		4	DEFA5	8	6913049	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	4879605	6913049	139450973	309	64190											
SPAG11B	10407	broad.mit.edu	37	chr8	7308682	7308682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaaagtccacacagatcCtaaatgagggtcctcgagcc	14	7	8	12	1	0	2	0	1	0	1	4	3	3	2	4	1	1	0	4	1	5	2	rs61749561		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:7308682C>A	ENST00000297498.2	-	3	420	c.254G>T	c.(253-255)aGg>aTg	p.R85M	SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000528168.1_Missense_Mutation_p.R32M	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	85					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CACACAGATCCTAAATGAGGG	0.463													14	65					0.132662	0.133701	1	0	A	7308682	C	A	7308682	3	1	341	1	0	0	0	0	1	0	0	0	15067	681	24	4	270	4	SPAG11B	8	7308682	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	395633	7308682	139055340	310	64191											
SH2D4A	63898	broad.mit.edu	37	chr8	19190565	19190565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaccctatgatgtgctctGtaatgaaattattgctgaga	13	14	8	6	0	1	3	0	3	1	1	1	4	1	3	1	0	3	3	1	0	6	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:19190565G>T	ENST00000265807.3	+	3	692	c.281G>T	c.(280-282)tGt>tTt	p.C94F	SH2D4A_ENST00000518040.1_Missense_Mutation_p.C49F|SH2D4A_ENST00000519207.1_Missense_Mutation_p.C94F	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	94						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GATGTGCTCTGTAATGAAATT	0.473													25	100					5.35356e-11	6.77532e-11	1	0	T	19190565	G	T	19190565	3	4	341	1	0	0	0	0	1	0	0	0	14322	1377	48	4	337	4	SH2D4A	8	19190565	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	11881883	19190565	127173457	311	64192											
LZTS1	11178	broad.mit.edu	37	chr8	20112403	20112403	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgtggacgggtcaaagTccaccccagcctggccccct	6	6	14	15	1	1	0	1	0	0	0	2	1	2	1	6	5	1	0	6	5	1	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:20112403T>A	ENST00000381569.1	-	2	647	c.290A>T	c.(289-291)gAc>gTc	p.D97V	LZTS1_ENST00000522290.1_Missense_Mutation_p.D97V|LZTS1_ENST00000265801.6_Missense_Mutation_p.D97V			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	97					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CGGGTCAAAGTCCACCCCAGC	0.592													15	58					0	0	0	0	A	20112403	T	A	20112403	3	1	341	1	0	0	0	0	1	0	0	0	9203	1667	58	5	1512	5	LZTS1	8	20112403	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	921838	20112403	126251619	312	64193											
NEFM	4741	broad.mit.edu	37	chr8	24771446	24771446	+	Frame_Shift_Del	DEL	C	C	-																															gtcccgcggctcgcccagcaCcgtgtcctcctcctataagc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:24771446delC	ENST00000221166.5	+	1	922	c.140delC	c.(139-141)acfs	p.T47fs	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Frame_Shift_Del_p.T47fs|NEFM_ENST00000518131.1_Frame_Shift_Del_p.T47fs			P07197	NFM_HUMAN	neurofilament, medium polypeptide	47	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCGCCCAGCACCGTGTCCTCC	0.687													17	51	---	---	---	---					-	24771446	C	-	24771446	7	5	341	1	0	1	0	1	0	0	0	0	10386	507	18	0	142	0	NEFM	8	24771446	Frame_Shift_Del	DEL	C	TCGA-CV-A461-01A-41D-A25Y-08	4659043	24771446	121592576	313	64194											
NRG1	3084	broad.mit.edu	37	chr8	32505844	32505844	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaccctgaggtgagaacgcCcaagtcagcaactcagccac	13	4	10	14	1	2	2	2	2	0	1	2	4	2	2	3	1	5	1	3	1	4	0	rs76552623		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:32505844C>A	ENST00000520502.2	+	1	608	c.608C>A	c.(607-609)cCc>cAc	p.P203H	NRG1_ENST00000405005.2_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000341377.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	464	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GTGAGAACGCCCAAGTCAGCA	0.488													18	49					5.03518e-11	6.38286e-11	1	0	A	32505844	C	A	32505844	3	1	341	1	0	0	0	0	1	0	0	0	10718	623	22	4	1883	4	NRG1	8	32505844	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	7734398	32505844	113858178	314	64195											
DDHD2	23259	broad.mit.edu	37	chr8	38103811	38103811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgggggatattgacaGtgaaaaggtaatttagatgt	12	15	12	2	0	1	3	0	2	1	1	1	4	1	4	0	3	0	1	0	3	5	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:38103811G>T	ENST00000397166.2	+	9	1643	c.1118G>T	c.(1117-1119)aGt>aTt	p.S373I	DDHD2_ENST00000520272.2_Missense_Mutation_p.S373I|DDHD2_ENST00000528888.1_3'UTR	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	373					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GATATTGACAGTGAAAAGGTA	0.294													24	95					1.96895e-08	2.34935e-08	1	0	T	38103811	G	T	38103811	3	4	341	1	0	0	0	0	1	0	0	0	4359	1029	36	4	1210	4	DDHD2	8	38103811	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	5597967	38103811	108260211	315	64196											
PRKDC	5591	broad.mit.edu	37	chr8	48761984	48761984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcactttgttcaagcaCacaataaacttgtcctccat	11	14	5	11	0	2	0	2	0	0	0	4	0	4	0	2	1	2	2	2	1	4	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:48761984C>T	ENST00000314191.2	-	54	7139	c.7083G>A	c.(7081-7083)gtG>gtA	p.V2361V	PRKDC_ENST00000338368.3_Silent_p.V2361V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2362					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTTCAAGCACACAATAAACT	0.473								Non-homologous end-joining					34	156					0	0	0	0	T	48761984	C	T	48761984	2	4	341	1	0	0	0	0	0	0	0	1	12601	465	17	4		4	PRKDC	8	48761984	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	10658173	48761984	97602038	316	64197											
XKR4	114786	broad.mit.edu	37	chr8	56436204	56436204	+	Frame_Shift_Del	DEL	A	A	-																															ggcaggacacgctgcaggctAttcatttactattttgtgat																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:56436204delA	ENST00000327381.5	+	3	1471	c.1371delA	c.(1369-1371)ctfs	p.L457fs		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	457						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTGCAGGCTATTCATTTACT	0.458													34	114	---	---	---	---					-	56436204	A	-	56436204	7	5	341	1	0	1	0	1	0	0	0	0	17529	436	16	0	1381	0	XKR4	8	56436204	Frame_Shift_Del	DEL	A	TCGA-CV-A461-01A-41D-A25Y-08	7674220	56436204	89927818	317	64198											
CHD7	55636	broad.mit.edu	37	chr8	61757439	61757439	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagttggggacggtggacaGacattctttcccacggacgc	8	8	14	11	3	1	1	0	0	1	1	2	4	2	4	1	5	0	2	1	5	0	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:61757439G>C	ENST00000423902.2	+	22	5346	c.4867G>C	c.(4867-4869)Gac>Cac	p.D1623H	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1623					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACGGTGGACAGACATTCTTTC	0.458													16	82					0	0	0	0	C	61757439	G	C	61757439	3	2	341	1	0	0	0	0	1	0	0	0	3359	942	33	2	4949	2	CHD7	8	61757439	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	5321235	61757439	84606583	318	64199											
CPA6	57094	broad.mit.edu	37	chr8	68346361	68346361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaaggagagataagccCtaatgtgctttctgtgtttt	11	14	10	6	0	1	2	0	1	1	1	1	4	1	3	1	1	2	2	1	1	3	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:68346361C>T	ENST00000297770.4	-	9	1168	c.953G>A	c.(952-954)aGg>aAg	p.R318K	CPA6_ENST00000297769.4_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	318					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GAGATAAGCCCTAATGTGCTT	0.408													49	126					0	0	0	0	T	68346361	C	T	68346361	3	4	341	1	0	0	0	0	1	0	0	0	3824	681	24	4	372	4	CPA6	8	68346361	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	6588922	68346361	78017661	319	64200											
PRDM14	63978	broad.mit.edu	37	chr8	70980501	70980501	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtctccgtaggtcttcacTtcactggcattgaccacttt	6	16	7	12	1	4	1	2	1	2	0	5	1	4	1	2	2	0	2	2	2	1	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:70980501T>A	ENST00000276594.2	-	4	1077	c.876A>T	c.(874-876)gaA>gaT	p.E292D		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	292	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGGTCTTCACTTCACTGGCAT	0.483													39	95					0	0	0	0	A	70980501	T	A	70980501	3	1	341	1	0	0	0	0	1	0	0	0	12535	1606	56	5	859	5	PRDM14	8	70980501	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	2634140	70980501	75383521	320	64201											
TRPA1	8989	broad.mit.edu	37	chr8	72973952	72973952	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagtttaacaatctcagtGgctccctgggtggcagcaaa	11	10	10	10	0	2	0	2	0	1	0	4	0	3	0	1	3	2	4	1	3	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:72973952G>T	ENST00000262209.4	-	7	1059	c.852C>A	c.(850-852)gcC>gcA	p.A284A		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	284						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAATCTCAGTGGCTCCCTGGG	0.408													32	68					3.1745e-13	4.16788e-13	1	0	T	72973952	G	T	72973952	2	4	341	1	0	0	0	0	0	0	0	1	16672	1335	47	4		4	TRPA1	8	72973952	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1993451	72973952	73390070	321	64202											
PAG1	55824	broad.mit.edu	37	chr8	81897092	81897092	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggttttcattctcgtcCagaagcttaacagggacagg	11	11	11	8	1	2	2	1	1	1	1	4	3	3	3	1	3	2	2	1	3	3	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:81897092C>A	ENST00000220597.4	-	7	1505	c.795G>T	c.(793-795)ctG>ctT	p.L265L		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	265					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CATTCTCGTCCAGAAGCTTAA	0.483													49	130					1.81118e-26	2.74163e-26	1	0	A	81897092	C	A	81897092	2	1	341	1	0	0	0	0	0	0	0	1	11459	581	21	4		4	PAG1	8	81897092	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	8923140	81897092	64466930	322	64203											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885106	88885106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagaagagaaggccacaCtgggaatgtcgttctccgag	11	6	15	9	3	1	2	0	0	1	2	3	6	1	3	2	3	0	1	2	3	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:88885106C>A	ENST00000319675.3	-	1	1190	c.1094G>T	c.(1093-1095)aGt>aTt	p.S365I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	365								p.S365N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAAGGCCACACTGGGAATGTC	0.592													32	64					3.57733e-08	4.22925e-08	1	0	A	88885106	C	A	88885106	3	1	341	1	0	0	0	0	1	0	0	0	4305	565	20	4	97	4	DCAF4L2	8	88885106	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	6988014	88885106	57478916	323	64204											
DECR1	1666	broad.mit.edu	37	chr8	91029485	91029485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcattcattactgggggagGtactggccttggtaaaggaa	10	10	15	6	0	1	0	1	0	0	0	1	2	1	2	1	7	2	3	1	7	5	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:91029485G>A	ENST00000522161.1	+	4	859	c.176G>A	c.(175-177)gGt>gAt	p.G59D	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000220764.2_Missense_Mutation_p.G68D			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	68					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			ACTGGGGGAGGTACTGGCCTT	0.458													35	79					0	0	0	0	A	91029485	G	A	91029485	3	1	341	1	0	0	0	0	1	0	0	0	4414	1261	44	4	209	4	DECR1	8	91029485	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2144379	91029485	55334537	324	64205											
CSMD3	114788	broad.mit.edu	37	chr8	113326250	113326250	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgaataatccccactgagGgaaataagcactggactttg	14	9	10	8	0	0	2	0	2	0	0	1	5	1	4	2	2	1	1	2	2	4	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:113326250G>T	ENST00000297405.5	-	49	7825	c.7581C>A	c.(7579-7581)tcC>tcA	p.S2527S	CSMD3_ENST00000455883.2_Silent_p.S2423S|CSMD3_ENST00000343508.3_Silent_p.S2487S|CSMD3_ENST00000352409.3_Silent_p.S2457S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2527	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCCACTGAGGGAAATAAGCA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			30	118					2.65835e-16	3.65168e-16	1	0	T	113326250	G	T	113326250	2	4	341	1	0	0	0	0	0	0	0	1	3978	1219	43	4		4	CSMD3	8	113326250	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	22296765	113326250	33037772	325	64206											
ENPP2	5168	broad.mit.edu	37	chr8	120633726	120633726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttcttcatttctgacttctCcacatctgtccttagtacac	7	18	3	13	0	5	1	1	1	4	0	7	1	6	1	2	0	1	1	2	0	2	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:120633726C>T	ENST00000427067.2	-	4	494	c.314G>A	c.(313-315)gGa>gAa	p.G105E	ENPP2_ENST00000522826.1_Missense_Mutation_p.G109E|ENPP2_ENST00000259486.6_Missense_Mutation_p.G109E|ENPP2_ENST00000075322.6_Missense_Mutation_p.G109E			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	109	SMB 2.				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCTGACTTCTCCACATCTGTC	0.458													24	138					0	0	0	0	T	120633726	C	T	120633726	3	4	341	1	0	0	0	0	1	0	0	0	5168	855	30	2	2592	2	ENPP2	8	120633726	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	7307476	120633726	25730296	326	64207											
DSCC1	79075	broad.mit.edu	37	chr8	120865319	120865319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatgttacagtgtgaatcttCcttcttcaactggtccggag	9	14	9	9	1	3	1	1	1	2	0	5	2	5	2	2	2	2	1	2	2	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:120865319C>T	ENST00000313655.4	-	2	533	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	107					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGTGAATCTTCCTTCTTCAAC	0.363													22	93					0	0	0	0	T	120865319	C	T	120865319	3	4	341	1	0	0	0	0	1	0	0	0	4806	864	30	2	894	2	DSCC1	8	120865319	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	231593	120865319	25498703	327	64208											
COL14A1	7373	broad.mit.edu	37	chr8	121357678	121357678	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcctcatccatccggacTgtccaagggcctcctgggga	7	8	10	16	1	1	0	1	0	0	0	6	2	6	2	6	4	0	0	6	4	1	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:121357678T>G	ENST00000297848.3	+	45	5223	c.4953T>G	c.(4951-4953)acT>acG	p.T1651T	COL14A1_ENST00000309791.4_Silent_p.T1651T|COL14A1_ENST00000247781.3_Silent_p.T1556T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1651					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCATCCGGACTGTCCAAGGGC	0.602													28	117					0	0	0	0	G	121357678	T	G	121357678	2	3	341	1	0	0	0	0	0	0	0	1	3701	1567	55	5		5	COL14A1	8	121357678	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	492359	121357678	25006344	328	64209											
COL22A1	169044	broad.mit.edu	37	chr8	139631730	139631730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccctctggtcctggtaGacctggctctcctgctttgc	3	12	11	15	0	2	1	0	0	2	1	4	1	3	1	4	4	2	4	4	4	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:139631730G>T	ENST00000303045.6	-	53	4239	c.3793C>A	c.(3793-3795)Cta>Ata	p.L1265I	COL22A1_ENST00000435777.1_Missense_Mutation_p.L1245I|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1265	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTCCTGGTAGACCTGGCTCT	0.517										HNSCC(7;0.00092)			61	123					4.09106e-26	6.16856e-26	1	0	T	139631730	G	T	139631730	3	4	341	1	0	0	0	0	1	0	0	0	3711	933	33	2	1139	2	COL22A1	8	139631730	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	18274052	139631730	6732292	329	64210											
COL22A1	169044	broad.mit.edu	37	chr8	139701189	139701189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgctccccatctttccctgGggtgcctctgaggccgggag	4	9	13	15	2	2	1	0	1	2	0	4	2	4	2	5	4	1	1	5	4	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:139701189G>T	ENST00000303045.6	-	37	3279	c.2833C>A	c.(2833-2835)Cca>Aca	p.P945T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P945T|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	945	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTTTCCCTGGGGTGCCTCTG	0.522										HNSCC(7;0.00092)			28	119					7.01153e-11	8.85909e-11	1	0	T	139701189	G	T	139701189	3	4	341	1	0	0	0	0	1	0	0	0	3711	1232	43	4	2163	4	COL22A1	8	139701189	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	69459	139701189	6662833	330	64211											
COL22A1	169044	broad.mit.edu	37	chr8	139768059	139768059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacaccaggtggccccgcaGgtcccacgtcaccctgcaca	8	5	10	18	2	1	0	1	0	0	0	2	0	2	0	5	3	2	3	5	3	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:139768059G>A	ENST00000303045.6	-	19	2362	c.1916C>T	c.(1915-1917)cCt>cTt	p.P639L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P639L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	639	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGCCCCGCAGGTCCCACGTC	0.557										HNSCC(7;0.00092)			14	123					0	0	0	0	A	139768059	G	A	139768059	3	1	341	1	0	0	0	0	1	0	0	0	3711	1000	35	4	3152	4	COL22A1	8	139768059	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	66870	139768059	6595963	331	64212											
COL22A1	169044	broad.mit.edu	37	chr8	139790650	139790650	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtggtccttggggcccCtgcagaagagcatttacaga	9	8	13	11	0	0	3	0	0	0	3	1	3	1	3	4	4	3	2	4	4	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:139790650C>A	ENST00000303045.6	-	15	2151		c.e15-1		COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTGGGGCCCCTGCAGAAGAG	0.567										HNSCC(7;0.00092)			11	51					1.58986e-06	1.80496e-06	1	0	A	139790650	C	A	139790650	5	1	341	1	0	0	0	0	0	0	1	0	3711	695	24	4	3380	4	COL22A1	8	139790650	Splice_Site	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	22591	139790650	6573372	332	64213											
TSNARE1	203062	broad.mit.edu	37	chr8	143425643	143425643	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgccaaacagcagctggtgGtgcttgctcaccttggacac	8	9	12	12	0	1	0	1	0	0	0	1	1	1	1	2	3	6	4	2	3	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:143425643G>A	ENST00000524325.1	-	4	604	c.429C>T	c.(427-429)caC>caT	p.H143H	TSNARE1_ENST00000520166.1_Silent_p.H143H|TSNARE1_ENST00000307180.3_Silent_p.H143H|TSNARE1_ENST00000519651.1_Intron			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	143					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCAGCTGGTGGTGCTTGCTCA	0.662													16	62					0	0	0	0	A	143425643	G	A	143425643	2	1	341	1	0	0	0	0	0	0	0	1	16725	1252	44	4		4	TSNARE1	8	143425643	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	3634993	143425643	2938379	333	64214											
BAI1	575	broad.mit.edu	37	chr8	143566046	143566046	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacgccaaggagctgttccgGctggtggaggactttgtgga	8	9	16	8	2	0	0	0	0	0	0	1	4	1	4	2	6	2	3	2	6	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:143566046G>T	ENST00000517894.1	+	13	3123	c.2229G>T	c.(2227-2229)cgG>cgT	p.R743R	BAI1_ENST00000323289.5_Silent_p.R743R			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	743					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCTGTTCCGGCTGGTGGAGG	0.657													9	15					0.000442599	0.000465513	1	0	T	143566046	G	T	143566046	2	4	341	1	0	0	0	0	0	0	0	1	1302	1190	42	4		4	BAI1	8	143566046	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	140403	143566046	2797976	334	64215											
BAI1	575	broad.mit.edu	37	chr8	143603354	143603354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgctggtggccgccttccTgcacttcttcttcctgtcct	2	14	8	17	2	2	0	0	0	2	0	5	0	5	0	5	2	1	2	5	2	0	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr8:143603354T>C	ENST00000517894.1	+	21	3947	c.3053T>C	c.(3052-3054)cTg>cCg	p.L1018P	BAI1_ENST00000323289.5_Missense_Mutation_p.L1018P			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1018					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCGCCTTCCTGCACTTCTTC	0.687													16	14					0	0	0	0	C	143603354	T	C	143603354	3	2	341	1	0	0	0	0	1	0	0	0	1302	1580	55	5	3131	5	BAI1	8	143603354	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	37308	143603354	2760668	335	64216											
DMRT3	58524	broad.mit.edu	37	chr9	990511	990511	+	Frame_Shift_Del	DEL	T	T	-																															ctgagagtctagcgttgcccTccaatgggcacatctttgaa																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:990511delT	ENST00000190165.2	+	2	963	c.925delT	c.(925-927)ccfs	p.S309fs		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	309					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGCGTTGCCCTCCAATGGGCA	0.572													23	68	---	---	---	---					-	990511	T	-	990511	7	5	341	1	0	1	0	1	0	0	0	0	4624	1551	54	0	931	0	DMRT3	9	990511	Frame_Shift_Del	DEL	T	TCGA-CV-A461-01A-41D-A25Y-08		990511	140222920	336	64217											
TTC39B	158219	broad.mit.edu	37	chr9	15214244	15214244	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccaccttggttgatgaTgaactaaagatcaagaaaaa	18	9	8	6	0	1	6	1	3	0	3	2	6	2	6	2	1	1	1	2	1	6	3	rs138159733		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:15214244T>C	ENST00000355694.2	-	4	411	c.177A>G	c.(175-177)tcA>tcG	p.S59S	TTC39B_ENST00000582994.1_5'UTR|TTC39B_ENST00000512701.1_Silent_p.S125S|TTC39B_ENST00000297615.5_Intron|TTC39B_ENST00000507993.1_5'UTR|TTC39B_ENST00000507285.1_5'UTR|TTC39B_ENST00000380850.4_Silent_p.S125S|TTC39B_ENST00000541445.1_Silent_p.S59S	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	59							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TGGTTGATGATGAACTAAAGA	0.418													22	45					0	0	0	0	C	15214244	T	C	15214244	2	2	341	1	0	0	0	0	0	0	0	1	16804	1451	51	5		5	TTC39B	9	15214244	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	14223733	15214244	125999187	337	64218											
IFNA21	3452	broad.mit.edu	37	chr9	21166099	21166099	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gataaagagaaggatctcatGatttctgctctgacaacctc	13	11	8	9	0	3	3	1	2	3	1	5	6	3	4	1	1	2	1	1	1	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:21166099G>A	ENST00000380225.1	-	1	560	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	171					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGATCTCATGATTTCTGCTC	0.383													119	208					0	0	0	0	A	21166099	G	A	21166099	2	1	341	1	0	0	0	0	0	0	0	1	7591	1280	45	2		2	IFNA21	9	21166099	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	5951855	21166099	120047332	338	64219											
TAF1L	138474	broad.mit.edu	37	chr9	32634231	32634231	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagcctgccaggcttgcAccctgaggttttgtcccttt	5	12	10	14	0	0	1	0	1	0	0	1	1	1	1	5	2	4	3	5	2	0	4	rs55679392		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:32634231A>T	ENST00000242310.4	-	1	1436	c.1347T>A	c.(1345-1347)ggT>ggA	p.G449G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	449					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAGGCTTGCACCCTGAGGTT	0.473													81	158					0	0	0	0	T	32634231	A	T	32634231	2	4	341	1	0	0	0	0	0	0	0	1	15614	146	6	5		5	TAF1L	9	32634231	Silent	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	11468132	32634231	108579200	339	64220											
APBA1	320	broad.mit.edu	37	chr9	72131980	72131980	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcgcccgcgctggtggcgGcccacatagtgctgctgctg	3	8	15	15	4	0	0	0	0	0	0	1	0	0	0	2	3	3	5	2	3	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:72131980G>A	ENST00000265381.4	-	2	369	c.147C>T	c.(145-147)ggC>ggT	p.G49G		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	49					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCTGGTGGCGGCCCACATAGT	0.716													4	15					0	0	0	0	A	72131980	G	A	72131980	2	1	341	1	0	0	0	0	0	0	0	1	757	1190	42	4		4	APBA1	9	72131980	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	39497749	72131980	69081451	340	64221											
TRPM3	80036	broad.mit.edu	37	chr9	73457962	73457962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggttttccacaattccccagGgggcaatacctatggtgcat	9	11	10	11	0	0	0	0	0	0	0	2	0	2	0	4	4	2	3	4	4	4	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:73457962G>T	ENST00000377110.2	-	5	1001	c.758C>A	c.(757-759)cCc>cAc	p.P253H	TRPM3_ENST00000396285.1_Missense_Mutation_p.P100H|TRPM3_ENST00000396292.4_Missense_Mutation_p.P100H|TRPM3_ENST00000357533.2_Missense_Mutation_p.P255H|TRPM3_ENST00000358082.3_Missense_Mutation_p.P100H|TRPM3_ENST00000360823.2_Missense_Mutation_p.P100H|TRPM3_ENST00000377106.1_Missense_Mutation_p.P100H|TRPM3_ENST00000423814.3_Missense_Mutation_p.P255H|TRPM3_ENST00000377101.1_Missense_Mutation_p.P100H|TRPM3_ENST00000361823.5_Missense_Mutation_p.P100H|TRPM3_ENST00000377105.1_Missense_Mutation_p.P100H|TRPM3_ENST00000408909.2_Missense_Mutation_p.P100H|TRPM3_ENST00000377097.3_Missense_Mutation_p.P100H|TRPM3_ENST00000396280.5_Missense_Mutation_p.P100H|TRPM3_ENST00000377111.2_Missense_Mutation_p.P253H|TRPM3_ENST00000396283.1_Missense_Mutation_p.P100H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	253						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AATTCCCCAGGGGGCAATACC	0.458													27	56					4.72057e-08	5.5723e-08	1	0	T	73457962	G	T	73457962	3	4	341	1	0	0	0	0	1	0	0	0	16682	1232	43	4	4572	4	TRPM3	9	73457962	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1325982	73457962	67755469	341	64222											
PCSK5	5125	broad.mit.edu	37	chr9	78953339	78953339	+	Missense_Mutation	SNP	C	C	T																															cacagacctgtgagagatgcCatccgacttgtgatcaatgc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:78953339C>T	ENST00000545128.1	+	34	5399	c.4861C>T	c.(4861-4863)Cat>Tat	p.H1621Y		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	786					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGAGAGATGCCATCCGACTTG	0.448													10	41					0	0	0	0	T	78953339	C	T	78953339	3	4	341	1	0	0	0	0	1	0	0	0	11674	609	21	4		4	PCSK5	9	78953339	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	5495377	78953339	62260092	342	64223	768	2									
PCSK5	5125	broad.mit.edu	37	chr9	78953340	78953340	+	Missense_Mutation	SNP	A	A	C																															acagacctgtgagagatgccAtccgacttgtgatcaatgca																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:78953340A>C	ENST00000545128.1	+	34	5400	c.4862A>C	c.(4861-4863)cAt>cCt	p.H1621P		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	786					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAGAGATGCCATCCGACTTGT	0.448													10	42					0	0	0	0	C	78953340	A	C	78953340	3	2	341	1	0	0	0	0	1	0	0	0	11674	232	8	5		5	PCSK5	9	78953340	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	1	78953340	62260091	343	64224	768	2									
PRUNE2	158471	broad.mit.edu	37	chr9	79321897	79321897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgagaaagtccagggatCagggctgctttgttgattgt	8	13	15	5	0	1	2	1	2	0	1	2	4	2	3	1	3	1	3	1	3	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:79321897C>A	ENST00000428286.1	-	8	5416	c.4216G>T	c.(4216-4218)Gat>Tat	p.D1406Y	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D1765Y			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1765					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTCCAGGGATCAGGGCTGCTT	0.438													16	75					0.000422831	0.000446547	1	0	A	79321897	C	A	79321897	3	1	341	1	0	0	0	0	1	0	0	0	12720	826	29	2	4021	2	PRUNE2	9	79321897	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	368557	79321897	61891534	344	64225											
VPS13A	23230	broad.mit.edu	37	chr9	79952206	79952206	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagccagaagatgagaactAtcaaatgtgtgaaggaattg	17	8	12	4	0	1	4	1	2	0	3	1	7	1	5	1	1	2	0	1	1	7	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:79952206A>C	ENST00000360280.3	+	47	6391	c.6131A>C	c.(6130-6132)tAt>tCt	p.Y2044S	VPS13A_ENST00000376636.3_Missense_Mutation_p.Y2005S|VPS13A_ENST00000357409.5_Missense_Mutation_p.Y2044S|VPS13A_ENST00000376634.4_Missense_Mutation_p.Y2044S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2044					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATGAGAACTATCAAATGTGT	0.274													21	68					0	0	0	0	C	79952206	A	C	79952206	3	2	341	1	0	0	0	0	1	0	0	0	17285	449	16	5	6317	5	VPS13A	9	79952206	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	630309	79952206	61261225	345	64226											
DAPK1	1612	broad.mit.edu	37	chr9	90252865	90252865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgggttctcagcgttgcaGgtggcgagctgtttgacttc	4	13	14	10	3	1	1	1	1	1	0	4	2	2	1	1	3	3	5	1	3	0	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:90252865G>T	ENST00000469640.2	+	4	667	c.292G>T	c.(292-294)Ggt>Tgt	p.G98C	DAPK1_ENST00000491893.1_Missense_Mutation_p.G98C|DAPK1_ENST00000408954.3_Missense_Mutation_p.G98C|DAPK1_ENST00000472284.1_Missense_Mutation_p.G98C|DAPK1_ENST00000358077.5_Missense_Mutation_p.G98C			P53355	DAPK1_HUMAN	death-associated protein kinase 1	98	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CAGCGTTGCAGGTGGCGAGCT	0.408									Chronic Lymphocytic Leukemia, Familial Clustering of				27	110					2.79863e-10	3.47354e-10	1	0	T	90252865	G	T	90252865	3	4	341	1	0	0	0	0	1	0	0	0	4268	1000	35	4	302	4	DAPK1	9	90252865	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	10300659	90252865	50960566	346	64227											
ZNF169	169841	broad.mit.edu	37	chr9	97063150	97063150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgcccccagtgtgggcGgggttttagccagaaggtca	6	9	15	11	1	1	1	1	0	0	1	1	1	1	1	4	4	2	1	4	4	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:97063150G>T	ENST00000395395.2	+	5	1400	c.1310G>T	c.(1309-1311)cGg>cTg	p.R437L	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	437						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CAGTGTGGGCGGGGTTTTAGC	0.582													28	58					1.68575e-08	2.01456e-08	1	0	T	97063150	G	T	97063150	3	4	341	1	0	0	0	0	1	0	0	0	17837	1116	39	3	1324	3	ZNF169	9	97063150	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	6810285	97063150	44150281	347	64228											
C9orf3	84909	broad.mit.edu	37	chr9	97717497	97717497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggccacacaagtgactcggGagcatctgttatcaagcatg	11	9	11	10	1	2	1	1	1	1	0	3	2	2	2	1	2	2	3	1	2	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:97717497G>A	ENST00000375315.2	+	7	1700	c.1700G>A	c.(1699-1701)gGa>gAa	p.G567E	C9orf3_ENST00000297979.5_Missense_Mutation_p.G468E	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	567					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGTGACTCGGGAGCATCTGTT	0.378													15	104					0	0	0	0	A	97717497	G	A	97717497	3	1	341	1	0	0	0	0	1	0	0	0	2502	1174	41	2	1421	2	C9orf3	9	97717497	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	654347	97717497	43495934	348	64229											
CDC14B	8555	broad.mit.edu	37	chr9	99285990	99285990	+	Missense_Mutation	SNP	C	C	A																															gtagcaggctatcagagtgcCcgtgcgaccaaggccagcta																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:99285990C>A	ENST00000375241.1	-	10	1415	c.964G>T	c.(964-966)Ggc>Tgc	p.G322C	CDC14B_ENST00000463569.1_Missense_Mutation_p.G322C|CDC14B_ENST00000375240.3_Missense_Mutation_p.G322C|CDC14B_ENST00000375236.1_Missense_Mutation_p.G322C|CDC14B_ENST00000375242.3_Missense_Mutation_p.G285C|CDC14B_ENST00000265659.2_Missense_Mutation_p.G322C	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	322	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				ATCAGAGTGCCCGTGCGACCA	0.498													22	55					1.50039e-11	1.91139e-11	1	0	A	99285990	C	A	99285990	3	1	341	1	0	0	0	0	1	0	0	0	3086	623	22	4	552	4	CDC14B	9	99285990	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1568493	99285990	41927441	349	64230	769	2									
CDC14B	8555	broad.mit.edu	37	chr9	99285991	99285991	+	Silent	SNP	C	C	A																															tagcaggctatcagagtgccCgtgcgaccaaggccagctag																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:99285991C>A	ENST00000375241.1	-	10	1414	c.963G>T	c.(961-963)acG>acT	p.T321T	CDC14B_ENST00000463569.1_Silent_p.T321T|CDC14B_ENST00000375240.3_Silent_p.T321T|CDC14B_ENST00000375236.1_Silent_p.T321T|CDC14B_ENST00000375242.3_Silent_p.T284T|CDC14B_ENST00000265659.2_Silent_p.T321T	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	321	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TCAGAGTGCCCGTGCGACCAA	0.498													20	55					1.01871e-10	1.28295e-10	1	0	A	99285991	C	A	99285991	2	1	341	1	0	0	0	0	0	0	0	1	3086	639	23	3		3	CDC14B	9	99285991	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1	99285991	41927440	350	64231	769	2									
ACTL7B	10880	broad.mit.edu	37	chr9	111617225	111617225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcctccttgaagcccGtgtcctggcagcggcccagg	5	8	11	17	2	1	1	0	1	1	0	4	1	3	1	6	3	2	1	6	3	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:111617225G>A	ENST00000374667.3	-	1	2014	c.986C>T	c.(985-987)aCg>aTg	p.T329M		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	329						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTTGAAGCCCGTGTCCTGGCA	0.667													9	187					0	0	0	0	A	111617225	G	A	111617225	3	1	341	1	0	0	0	0	1	0	0	0	201	1145	40	1	265	1	ACTL7B	9	111617225	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	12331234	111617225	29596206	351	64232											
EPB41L4B	54566	broad.mit.edu	37	chr9	111976076	111976076	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggcttcactgaacaaGgcaggtgttcctggactcag	9	8	13	11	1	2	1	2	1	0	0	3	2	3	2	1	4	2	4	1	4	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:111976076G>T	ENST00000374566.3	-	17	2173	c.1656C>A	c.(1654-1656)gcC>gcA	p.A552A		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	552						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTGAACAAGGCAGGTGTTC	0.493													22	73					8.10497e-08	9.50918e-08	1	0	T	111976076	G	T	111976076	2	4	341	1	0	0	0	0	0	0	0	1	5194	987	35	4		4	EPB41L4B	9	111976076	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	358851	111976076	29237355	352	64233											
EPB41L4B	54566	broad.mit.edu	37	chr9	111979251	111979251	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctcagaggcccctctttGttctccagggtcagtgagag	7	10	12	12	0	4	2	2	1	2	2	5	4	4	2	4	2	0	1	4	2	0	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:111979251G>A	ENST00000374566.3	-	16	2101	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	528						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCCCTCTTTGTTCTCCAGGG	0.587													59	184					0	0	0	0	A	111979251	G	A	111979251	2	1	341	1	0	0	0	0	0	0	0	1	5194	1368	48	4		4	EPB41L4B	9	111979251	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	3175	111979251	29234180	353	64234											
PTPN3	5774	broad.mit.edu	37	chr9	112172685	112172685	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgtgccggattgttctCggataaactccttcatcatg	7	15	9	10	2	3	0	2	0	1	0	5	2	4	2	2	2	2	2	2	2	2	5	rs141809051		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:112172685C>A	ENST00000412145.1	-	10	3484	c.931G>T	c.(931-933)Gag>Tag	p.E311*	PTPN3_ENST00000374541.2_Nonsense_Mutation_p.E442*|PTPN3_ENST00000394827.3_5'UTR|PTPN3_ENST00000262539.3_Nonsense_Mutation_p.E288*|PTPN3_ENST00000446349.1_Nonsense_Mutation_p.E266*	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	442	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGATTGTTCTCGGATAAACTC	0.483													47	86					7.88023e-25	1.17898e-24	1	0	A	112172685	C	A	112172685	4	1	341	1	0	0	0	0	0	1	0	0	12871	893	31	3	1465	3	PTPN3	9	112172685	Nonsense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	193434	112172685	29040746	354	64235											
COL27A1	85301	broad.mit.edu	37	chr9	116931743	116931743	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggagactgtggcttgccGgtaagactgagtggggtctg	8	9	18	6	1	1	3	0	1	1	2	1	4	1	3	1	5	1	2	1	5	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:116931743G>T	ENST00000356083.3	+	3	2299	c.1908_splice	c.e3+1	p.P636_splice		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	636	Collagen-like 1.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GTGGCTTGCCGGTAAGACTGA	0.597													21	92					1.50039e-11	1.91139e-11	1	0	T	116931743	G	T	116931743	5	4	341	1	0	0	0	0	0	0	1	0	3715	1130	39	3	1918	3	COL27A1	9	116931743	Splice_Site	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	4759058	116931743	24281688	355	64236											
OR5C1	392391	broad.mit.edu	37	chr9	125551240	125551240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaacctcacccgggccgCggttgcccctgctgaattcg	7	7	12	15	4	1	2	1	1	0	1	2	3	1	2	5	2	3	2	5	2	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:125551240C>T	ENST00000373680.2	+	1	91	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ACCCGGGCCGCGGTTGCCCCT	0.597													27	112					0	0	0	0	T	125551240	C	T	125551240	3	4	341	1	0	0	0	0	1	0	0	0	11224	768	27	1	31	1	OR5C1	9	125551240	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	8619497	125551240	15662191	356	64237											
CRB2	286204	broad.mit.edu	37	chr9	126132737	126132737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaggtttcgcaccacaCtgcccgctgggaccttggcc	6	8	11	16	2	0	1	0	1	0	0	1	2	0	2	4	3	1	3	4	3	0	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:126132737C>T	ENST00000373631.3	+	7	1406	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L	CRB2_ENST00000359999.3_Silent_p.L469L|CRB2_ENST00000373629.2_Silent_p.L137L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	469	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCGCACCACACTGCCCGCTGG	0.607													20	59					0	0	0	0	T	126132737	C	T	126132737	2	4	341	1	0	0	0	0	0	0	0	1	3879	564	20	4		4	CRB2	9	126132737	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	581497	126132737	15080694	357	64238											
TTC16	158248	broad.mit.edu	37	chr9	130493459	130493459	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccgaagcaggggactgctCcgaagttccaccaagactga	11	5	13	12	2	0	2	0	1	0	1	2	5	2	3	4	3	2	3	4	3	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:130493459C>A	ENST00000373289.3	+	14	2477	c.2397C>A	c.(2395-2397)ctC>ctA	p.L799L	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	799							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGGGACTGCTCCGAAGTTCCA	0.607													7	45					0.0293803	0.0297659	1	0	A	130493459	C	A	130493459	2	1	341	1	0	0	0	0	0	0	0	1	16779	842	30	2		2	TTC16	9	130493459	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	4360722	130493459	10719972	358	64239											
SNAPC4	6621	broad.mit.edu	37	chr9	139275783	139275783	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtagcttacctgggtaaaCagggtaaacacaggggtgct	13	8	13	7	0	0	0	0	0	0	0	0	0	0	0	1	4	5	5	1	4	7	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:139275783C>T	ENST00000298532.2	-	18	2747	c.2379G>A	c.(2377-2379)ctG>ctA	p.L793L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	793					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCTGGGTAAACAGGGTAAACA	0.527													102	193					0	0	0	0	T	139275783	C	T	139275783	2	4	341	1	0	0	0	0	0	0	0	1	14925	465	17	4		4	SNAPC4	9	139275783	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	8782324	139275783	1937648	359	64240											
SNAPC4	6621	broad.mit.edu	37	chr9	139286432	139286432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgccactccaggtggcCgtgtgcagccgcgatcgcct	4	9	12	16	4	1	0	0	0	1	0	3	1	2	0	5	2	3	1	5	2	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr9:139286432C>A	ENST00000298532.2	-	9	1305	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	313	HTH myb-type 1.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TCCAGGTGGCCGTGTGCAGCC	0.662													15	91					0.000219431	0.000234953	1	0	A	139286432	C	A	139286432	3	1	341	1	0	0	0	0	1	0	0	0	14925	652	23	3	3528	3	SNAPC4	9	139286432	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	10649	139286432	1926999	360	64241											
FBXO18	84893	broad.mit.edu	37	chr10	5951148	5951148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaccactaagtgctctcCgagtgtggatcccgagaggg	9	7	13	12	2	1	1	0	0	1	1	3	4	2	2	4	2	2	1	4	2	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:5951148C>T	ENST00000379999.5	+	6	1168	c.1064C>T	c.(1063-1065)cCg>cTg	p.P355L	FBXO18_ENST00000379994.1_Missense_Mutation_p.P41L|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.P304L	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	304					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAGTGCTCTCCGAGTGTGGAT	0.572													23	78					0	0	0	0	T	5951148	C	T	5951148	3	4	341	1	0	0	0	0	1	0	0	0	5776	652	23	1	1091	1	FBXO18	10	5951148	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08		5951148	129583599	361	64242											
RPP38	10557	broad.mit.edu	37	chr10	15145809	15145809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaggtcccccggctcagtGagagaatcgcccccgtcatt	7	8	11	15	3	3	2	3	1	0	1	5	3	4	2	4	2	0	1	4	2	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:15145809G>A	ENST00000378197.4	+	3	1010	c.496G>A	c.(496-498)Gag>Aag	p.E166K	RPP38_ENST00000378202.5_Missense_Mutation_p.E166K|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	166					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CCGGCTCAGTGAGAGAATCGC	0.502													15	73					0	0	0	0	A	15145809	G	A	15145809	3	1	341	1	0	0	0	0	1	0	0	0	13698	1291	45	2	498	2	RPP38	10	15145809	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	9194661	15145809	120388938	362	64243											
CUBN	8029	broad.mit.edu	37	chr10	16941115	16941115	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaacatctgctgttttcGggaaaattctgaggccagtg	10	11	12	8	1	2	1	0	1	2	0	3	3	2	3	1	3	2	2	1	3	3	3	rs147986316		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:16941115G>T	ENST00000377833.4	-	54	8543	c.8478C>A	c.(8476-8478)ccC>ccA	p.P2826P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2826	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCTGTTTTCGGGAAAATTCT	0.423													23	97					1.22574e-08	1.46708e-08	1	0	T	16941115	G	T	16941115	2	4	341	1	0	0	0	0	0	0	0	1	4083	1103	39	3		3	CUBN	10	16941115	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1795306	16941115	118593632	363	64244											
ARHGAP21	57584	broad.mit.edu	37	chr10	24874495	24874495	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacgttggccaaaaactCgctatgtttcgtttctggac	8	13	10	10	3	1	1	0	1	1	0	3	2	1	2	1	2	1	5	1	2	3	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:24874495C>A	ENST00000396432.2	-	26	5209	c.4723G>T	c.(4723-4725)Gag>Tag	p.E1575*		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1574					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GCCAAAAACTCGCTATGTTTC	0.517													29	107					2.4375e-19	3.49767e-19	1	0	A	24874495	C	A	24874495	4	1	341	1	0	0	0	0	0	1	0	0	873	893	31	3	1157	3	ARHGAP21	10	24874495	Nonsense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	7933380	24874495	110660252	364	64245											
SVIL	6840	broad.mit.edu	37	chr10	29818743	29818743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgagcgtcgctttggaaCattttgttcatcaaaagatt	10	16	8	7	2	3	2	2	1	1	1	4	3	3	3	0	1	2	2	0	1	3	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:29818743C>T	ENST00000375398.2	-	14	2586	c.2137G>A	c.(2137-2139)Gtt>Att	p.V713I	SVIL_ENST00000375400.3_Missense_Mutation_p.V319I|SVIL_ENST00000355867.4_Missense_Mutation_p.V713I			O95425	SVIL_HUMAN	supervillin	713					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGCTTTGGAACATTTTGTTCA	0.493													13	40					0	0	0	0	T	29818743	C	T	29818743	3	4	341	1	0	0	0	0	1	0	0	0	15511	478	17	4	4615	4	SVIL	10	29818743	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	4944248	29818743	105716004	365	64246											
PARD3	56288	broad.mit.edu	37	chr10	34620136	34620136	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcattgcatcccctgccTctgattatccgcggccgtgg	4	12	9	16	3	2	1	1	1	2	0	5	1	4	1	5	2	2	1	5	2	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:34620136T>G	ENST00000374789.3	-	19	3076	c.2751A>C	c.(2749-2751)agA>agC	p.R917S	PARD3_ENST00000374790.3_Missense_Mutation_p.R857S|PARD3_ENST00000340077.5_Missense_Mutation_p.R914S|PARD3_ENST00000350537.4_Missense_Mutation_p.R871S|PARD3_ENST00000374773.1_Missense_Mutation_p.R884S|PARD3_ENST00000374788.3_Missense_Mutation_p.R914S|PARD3_ENST00000545260.1_Missense_Mutation_p.R827S|PARD3_ENST00000346874.4_Missense_Mutation_p.R917S|PARD3_ENST00000544292.1_Missense_Mutation_p.R630S|PARD3_ENST00000374794.3_Missense_Mutation_p.R842S|PARD3_ENST00000374776.1_Missense_Mutation_p.R871S|PARD3_ENST00000545693.1_Missense_Mutation_p.R901S|PARD3_ENST00000466092.1_5'UTR	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	917	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ATCCCCTGCCTCTGATTATCC	0.498													21	72					0	0	0	0	G	34620136	T	G	34620136	3	3	341	1	0	0	0	0	1	0	0	0	11514	1548	54	5	1382	5	PARD3	10	34620136	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	4801393	34620136	100914611	366	64247											
C10orf10	11067	broad.mit.edu	37	chr10	45473430	45473430	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcatctcctccgtggtctCccgaattgtgggcagatggg	6	10	13	12	2	2	1	0	0	2	1	5	2	3	1	3	3	1	2	3	3	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:45473430C>A	ENST00000298295.3	-	2	266	c.49G>T	c.(49-51)Gag>Tag	p.E17*	RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	17						mitochondrion				lung(1)	1						TCCGTGGTCTCCCGAATTGTG	0.612													19	101					1.15919e-05	1.29133e-05	1	0	A	45473430	C	A	45473430	4	1	341	1	0	0	0	0	0	1	0	0	1589	864	30	2	593	2	C10orf10	10	45473430	Nonsense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	10853294	45473430	90061317	367	64248											
PCDH15	65217	broad.mit.edu	37	chr10	55583103	55583103	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccctgctttgttgaaaatgGtagagaaggaaaagacttga	14	10	11	6	0	0	4	0	2	0	2	0	6	0	5	2	2	1	3	2	2	6	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:55583103G>C	ENST00000361849.3	-	34	4783	c.4389C>G	c.(4387-4389)taC>taG	p.Y1463*	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.Y1392*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.Y1458*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.Y1438*|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.Y1461*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.Y1421*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1461					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTGAAAATGGTAGAGAAGGA	0.363										HNSCC(58;0.16)			22	71					0	0	0	0	C	55583103	G	C	55583103	4	2	341	1	0	0	0	0	0	1	0	0	11582	1256	44	4	3094	4	PCDH15	10	55583103	Nonsense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	10109673	55583103	79951644	368	64249											
SIRT1	23411	broad.mit.edu	37	chr10	69648676	69648676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagcaacatcttatgattgGcacagatcctcgaacaattc	13	11	6	11	1	2	2	1	1	1	1	5	3	3	2	1	1	3	2	1	1	4	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:69648676G>T	ENST00000212015.6	+	3	637	c.584G>T	c.(583-585)gGc>gTc	p.G195V	SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_Intron	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	195	Interaction with HIST1H1E.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CTTATGATTGGCACAGATCCT	0.348													39	98					4.92203e-23	7.30732e-23	1	0	T	69648676	G	T	69648676	3	4	341	1	0	0	0	0	1	0	0	0	14425	1203	42	4	594	4	SIRT1	10	69648676	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	14065573	69648676	65886071	369	64250											
CCAR1	55749	broad.mit.edu	37	chr10	70549469	70549469	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatttttttaaacagatGaagatgaaaaaaccatatta	18	14	6	3	0	0	4	0	2	0	2	0	5	0	5	1	1	2	0	1	1	8	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:70549469G>T	ENST00000265872.6	+	24	3309	c.3190G>T	c.(3190-3192)Gaa>Taa	p.E1064*	CCAR1_ENST00000535016.1_Nonsense_Mutation_p.E1049*|CCAR1_ENST00000543719.1_Nonsense_Mutation_p.E1049*	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	1064					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTAAACAGATGAAGATGAAAA	0.269													5	41					0.014758	0.0150306	1	0	T	70549469	G	T	70549469	4	4	341	1	0	0	0	0	0	1	0	0	2755	1291	45	2	3280	2	CCAR1	10	70549469	Nonsense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	900793	70549469	64985278	370	64251											
CDH23	64072	broad.mit.edu	37	chr10	73270912	73270912	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacatccaggttggggaTgtgaatgacaacgcgcccac	11	7	13	10	2	0	3	0	3	0	0	1	4	1	4	2	3	2	1	2	3	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:73270912T>A	ENST00000224721.6	+	5	377	c.372T>A	c.(370-372)gaT>gaA	p.D124E	CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000461841.3_Missense_Mutation_p.D169E|CDH23_ENST00000398809.4_Missense_Mutation_p.D124E|CDH23_ENST00000299366.7_Missense_Mutation_p.D169E|CDH23_ENST00000398842.3_Missense_Mutation_p.D124E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	124	Cadherin 1.		D -> G (in DFNB12).		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGTTGGGGATGTGAATGACA	0.582													21	102					0	0	0	0	A	73270912	T	A	73270912	3	1	341	1	0	0	0	0	1	0	0	0	3137	1461	51	5	390	5	CDH23	10	73270912	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	2721443	73270912	62263835	371	64252											
DLG5	9231	broad.mit.edu	37	chr10	79569399	79569399	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaccccatgcaggttcccaCcacacaagtgcaccccaagc	12	4	6	19	0	0	0	0	0	0	0	1	0	1	0	6	1	3	3	6	1	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:79569399C>G	ENST00000372391.2	-	24	4558	c.4553G>C	c.(4552-4554)gGt>gCt	p.G1518A	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.G1178A	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1518	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGGTTCCCACCACACAAGTG	0.582													46	232					0	0	0	0	G	79569399	C	G	79569399	3	3	341	1	0	0	0	0	1	0	0	0	4595	507	18	4	1242	4	DLG5	10	79569399	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	6298487	79569399	55965348	372	64253											
GRID1	2894	broad.mit.edu	37	chr10	87362341	87362341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtctgggtgggagccaggcCccccatctccagggccgaga	6	5	16	14	1	2	1	0	0	2	1	3	3	2	2	6	5	1	0	6	5	0	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:87362341C>T	ENST00000327946.7	-	16	2804	c.2719G>A	c.(2719-2721)Ggc>Agc	p.G907S	GRID1_ENST00000536331.1_Missense_Mutation_p.G478S|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	907						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGAGCCAGGCCCCCCATCTCC	0.617										Multiple Myeloma(13;0.14)			6	43					0	0	0	0	T	87362341	C	T	87362341	3	4	341	1	0	0	0	0	1	0	0	0	6821	623	22	4	314	4	GRID1	10	87362341	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	7792942	87362341	48172406	373	64254											
MMRN2	79812	broad.mit.edu	37	chr10	88705126	88705126	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggggccgcagggagccctaCcgtggtgctcgcagttgggg	4	6	20	11	3	0	0	0	0	0	0	1	1	0	1	3	6	3	4	3	6	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:88705126C>A	ENST00000372027.4	-	3	474		c.e3+1			NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2							extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GGGAGCCCTACCGTGGTGCTC	0.607													4	19					0.00909568	0.00931282	1	0	A	88705126	C	A	88705126	5	1	341	1	0	0	0	0	0	0	1	0	9741	521	18	4	2468	4	MMRN2	10	88705126	Splice_Site	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1342785	88705126	46829621	374	64255											
STAMBPL1	57559	broad.mit.edu	37	chr10	90665297	90665297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgtaatatcaccatcaGtgaagacatcactccacgac	13	10	7	11	1	3	2	3	1	0	1	4	3	4	2	2	1	0	2	2	1	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:90665297G>T	ENST00000371927.3	+	3	1086	c.128G>T	c.(127-129)aGt>aTt	p.S43I	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S43I|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.S43I			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	43							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		ATCACCATCAGTGAAGACATC	0.453													25	99					3.08376e-08	3.65693e-08	1	0	T	90665297	G	T	90665297	3	4	341	1	0	0	0	0	1	0	0	0	15341	1029	36	4	134	4	STAMBPL1	10	90665297	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1960171	90665297	44869450	375	64256											
C10orf12	26148	broad.mit.edu	37	chr10	98741370	98741370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaggatttagaggcaaatGaacaagatgcaaggccaaag	17	5	12	7	0	0	3	0	1	0	2	0	4	0	4	2	3	2	2	2	3	6	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:98741370G>A	ENST00000286067.2	+	1	330	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	75										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGAGGCAAATGAACAAGATGC	0.433													22	70					0	0	0	0	A	98741370	G	A	98741370	3	1	341	1	0	0	0	0	1	0	0	0	1599	1291	45	2	225	2	C10orf12	10	98741370	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	8076073	98741370	36793377	376	64257											
CPN1	1369	broad.mit.edu	37	chr10	101841328	101841328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgaaaggtcaccggggCaaccaacttgaagagaagga	14	4	15	8	2	1	2	1	1	0	1	1	5	1	3	2	5	2	1	2	5	5	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:101841328C>A	ENST00000370418.3	-	1	306	c.55G>T	c.(55-57)Gcc>Tcc	p.A19S		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	19					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTCACCGGGGCAACCAACTTG	0.562													9	53					2.17888e-05	2.4168e-05	1	0	A	101841328	C	A	101841328	3	1	341	1	0	0	0	0	1	0	0	0	3839	710	25	4	1357	4	CPN1	10	101841328	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3099958	101841328	33693419	377	64258											
NPM3	10360	broad.mit.edu	37	chr10	103542039	103542039	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgccgcccagtgatccGcacagggccagagcccgact	7	5	13	16	3	0	2	0	1	0	1	1	3	1	2	5	2	2	1	5	2	0	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:103542039G>C	ENST00000370110.5	-	4	416	c.394C>G	c.(394-396)Cgg>Ggg	p.R132G	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	132							nucleic acid binding			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CCAGTGATCCGCACAGGGCCA	0.617													7	22					0	0	0	0	C	103542039	G	C	103542039	3	2	341	1	0	0	0	0	1	0	0	0	10660	1086	38	3	150	3	NPM3	10	103542039	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1700711	103542039	31992708	378	64259											
PPRC1	23082	broad.mit.edu	37	chr10	103904779	103904779	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttttccccccccgccagcgGcgttgacattccccaggaga	6	8	9	18	3	0	2	0	1	0	1	2	3	2	2	7	2	1	1	7	2	0	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:103904779G>C	ENST00000278070.2	+	8	3650	c.3611G>C	c.(3610-3612)gGc>gCc	p.G1204A	PPRC1_ENST00000370012.1_Missense_Mutation_p.G171A|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCCGCCAGCGGCGTTGACATT	0.552													9	39					0	0	0	0	C	103904779	G	C	103904779	3	2	341	1	0	0	0	0	1	0	0	0	12486	1203	42	4	3641	4	PPRC1	10	103904779	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	362740	103904779	31629968	379	64260											
SORCS3	22986	broad.mit.edu	37	chr10	106849541	106849541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctttcccaggtcggtggCcggattggataaggaggcgg	6	10	16	9	3	0	0	0	0	0	0	3	3	2	3	3	8	0	0	3	8	1	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:106849541C>T	ENST00000369701.3	+	6	1264	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	346						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGTCGGTGGCCGGATTGGAT	0.577													11	30					0	0	0	0	T	106849541	C	T	106849541	3	4	341	1	0	0	0	0	1	0	0	0	15020	739	26	4	1059	4	SORCS3	10	106849541	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2944762	106849541	28685206	380	64261											
SORCS1	114815	broad.mit.edu	37	chr10	108459079	108459079	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctgagatgtagaggttgtAcgtgtcattctggttccatt	7	16	12	6	1	3	2	1	1	2	2	4	3	4	2	1	2	1	4	1	2	2	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:108459079A>T	ENST00000263054.6	-	9	1313	c.1306T>A	c.(1306-1308)Tac>Aac	p.Y436N	SORCS1_ENST00000344440.6_Missense_Mutation_p.Y436N|SORCS1_ENST00000369698.1_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	436						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TAGAGGTTGTACGTGTCATTC	0.512													23	69					0	0	0	0	T	108459079	A	T	108459079	3	4	341	1	0	0	0	0	1	0	0	0	15018	391	14	5	2506	5	SORCS1	10	108459079	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	1609538	108459079	27075668	381	64262											
CASP7	840	broad.mit.edu	37	chr10	115489094	115489094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttactcgtggaggagcccagGaagaggctcctggtttgtgc	7	10	15	9	1	0	1	0	0	0	1	2	4	1	4	2	5	3	2	2	5	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:115489094G>A	ENST00000369321.2	+	8	1126	c.806G>A	c.(805-807)gGa>gAa	p.G269E	CASP7_ENST00000452490.2_Missense_Mutation_p.G211E|CASP7_ENST00000369315.1_Missense_Mutation_p.G236E|CASP7_ENST00000345633.4_Missense_Mutation_p.G236E|CASP7_ENST00000369331.4_Missense_Mutation_p.E225K|CASP7_ENST00000369318.3_Missense_Mutation_p.G236E	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	236					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AGGAGCCCAGGAAGAGGCTCC	0.502													45	139					0	0	0	0	A	115489094	G	A	115489094	3	1	341	1	0	0	0	0	1	0	0	0	2701	1175	41	2	910	2	CASP7	10	115489094	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	7030015	115489094	20045653	382	64263											
ATRNL1	26033	broad.mit.edu	37	chr10	117607388	117607388	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtgggttttctttttcagGgggcacccaagccaattgcc	8	12	11	10	0	2	0	1	0	1	0	2	0	2	0	3	3	2	2	3	3	3	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:117607388G>T	ENST00000355044.3	+	28	4030	c.3903_splice	c.e28-1	p.G1302_splice	ATRNL1_ENST00000423111.2_Splice_Site_p.G353_splice|ATRNL1_ENST00000303745.7_Splice_Site_p.G95_splice	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1302						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTTTTTCAGGGGGCACCCAA	0.438													6	28					3.59834e-05	3.9459e-05	1	0	T	117607388	G	T	117607388	5	4	341	1	0	0	0	0	0	0	1	0	1211	1246	43	4	4014	4	ATRNL1	10	117607388	Splice_Site	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2118294	117607388	17927359	383	64264											
GRK5	2869	broad.mit.edu	37	chr10	121207758	121207758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagccgggatgttggaccctCccttcgttccagacgtgagt	7	10	12	12	3	0	2	0	1	0	1	3	4	2	4	4	2	1	2	4	2	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:121207758C>A	ENST00000392870.2	+	13	1719	c.1390C>A	c.(1390-1392)Ccc>Acc	p.P464T	GRK5_ENST00000369108.3_Missense_Mutation_p.P359T	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	464	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GTTGGACCCTCCCTTCGTTCC	0.632													35	172					9.45814e-24	1.40959e-23	1	0	A	121207758	C	A	121207758	3	1	341	1	0	0	0	0	1	0	0	0	6842	855	30	2	1440	2	GRK5	10	121207758	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3600370	121207758	14326989	384	64265											
TACC2	10579	broad.mit.edu	37	chr10	123970575	123970575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggactcagagagtgcagaagGggttgtccccccggcttctg	7	8	15	11	1	2	2	1	0	1	2	3	4	3	3	3	4	1	3	3	4	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:123970575G>T	ENST00000369005.1	+	9	6975	c.6635G>T	c.(6634-6636)gGg>gTg	p.G2212V	TACC2_ENST00000368999.1_Missense_Mutation_p.G290V|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000334433.3_Missense_Mutation_p.G2212V|TACC2_ENST00000453444.2_Missense_Mutation_p.G2216V|TACC2_ENST00000260733.3_Missense_Mutation_p.G290V|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515273.1_Missense_Mutation_p.G2216V|TACC2_ENST00000369004.3_Missense_Mutation_p.G290V|TACC2_ENST00000515603.1_Missense_Mutation_p.G2167V|TACC2_ENST00000513429.1_Missense_Mutation_p.G358V|TACC2_ENST00000360561.3_Missense_Mutation_p.G290V|TACC2_ENST00000358010.1_Missense_Mutation_p.G358V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2212						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGTGCAGAAGGGGTTGTCCCC	0.642													17	65					1.5739e-10	1.97248e-10	1	0	T	123970575	G	T	123970575	3	4	341	1	0	0	0	0	1	0	0	0	15593	1232	43	4	6737	4	TACC2	10	123970575	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2762817	123970575	11564172	385	64266											
DHX32	55760	broad.mit.edu	37	chr10	127526851	127526851	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttatggaagaggacccactCtggcatcttcttggtgattg	8	14	11	8	0	3	2	0	1	3	1	3	4	3	4	1	4	0	1	1	4	2	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:127526851C>G	ENST00000284690.3	-	10	2477	c.1987G>C	c.(1987-1989)Gag>Cag	p.E663Q	DHX32_ENST00000368721.1_Missense_Mutation_p.E287Q|DHX32_ENST00000284688.6_Missense_Mutation_p.E582Q|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000368759.5_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	663						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGGACCCACTCTGGCATCTTC	0.438													35	138					0	0	0	0	G	127526851	C	G	127526851	3	3	341	1	0	0	0	0	1	0	0	0	4542	922	32	2	252	2	DHX32	10	127526851	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3556276	127526851	8007896	386	64267											
C10orf90	118611	broad.mit.edu	37	chr10	128118392	128118392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatctccttctctgaaatgCaccgttctttgggtttgaac	7	15	8	11	1	3	2	0	2	3	0	5	2	3	2	2	1	2	4	2	1	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:128118392C>A	ENST00000284694.7	-	7	2045	c.1925G>T	c.(1924-1926)tGc>tTc	p.C642F	C10orf90_ENST00000356858.3_Missense_Mutation_p.C595F|C10orf90_ENST00000544758.1_Missense_Mutation_p.C739F|C10orf90_ENST00000454341.1_Missense_Mutation_p.C545F|C10orf90_ENST00000480379.1_Missense_Mutation_p.C46F	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	642										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCTGAAATGCACCGTTCTTT	0.398													15	53					3.35478e-16	4.60015e-16	1	0	A	128118392	C	A	128118392	3	1	341	1	0	0	0	0	1	0	0	0	1633	710	25	4	186	4	C10orf90	10	128118392	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	591541	128118392	7416355	387	64268											
GPR123	84435	broad.mit.edu	37	chr10	134896171	134896171	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacgagacccacggccttggCctgaggtgggcataggatgc	8	7	15	11	2	0	2	0	1	0	1	0	4	0	3	3	5	2	1	3	5	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:134896171C>G	ENST00000607359.1	+	6	1257	c.1257C>G	c.(1255-1257)ggC>ggG	p.G419G				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACGGCCTTGGCCTGAGGTGGG	0.617													8	36					0	0	0	0	G	134896171	C	G	134896171	2	3	341	1	0	0	0	0	0	0	0	1	6686	754	26	4		4	GPR123	10	134896171	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	6777779	134896171	638576	388	64269											
GPR123	84435	broad.mit.edu	37	chr10	134941872	134941872	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagcctgggcgccttctaCggcccagccgccatcatcac	6	6	9	20	3	3	0	2	0	1	0	3	0	3	0	6	2	3	0	6	2	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr10:134941872C>G	ENST00000607359.1	+	16	2697	c.2697C>G	c.(2695-2697)taC>taG	p.Y899*	GPR123_ENST00000392607.3_Nonsense_Mutation_p.Y180*|GPR123_ENST00000392606.2_Nonsense_Mutation_p.Y83*			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	180						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCGCCTTCTACGGCCCAGCCG	0.697													8	19					0	0	0	0	G	134941872	C	G	134941872	4	3	341	1	0	0	0	0	0	1	0	0	6686	547	19	3	562	3	GPR123	10	134941872	Nonsense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	45701	134941872	592875	389	64270											
NLRP6	171389	broad.mit.edu	37	chr11	284296	284296	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccctgagggcagccccCgcactgacggagctgggcct	6	4	16	15	2	0	2	0	2	0	0	0	4	0	3	4	4	2	3	4	4	0	0	rs148506980		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:284296C>A	ENST00000534750.1	+	6	2470	c.2265C>A	c.(2263-2265)ccC>ccA	p.P755P	NLRP6_ENST00000312165.5_Silent_p.P756P	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	756						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGGCAGCCCCCGCACTGACGG	0.642													14	53					7.93312e-07	9.07314e-07	1	0	A	284296	C	A	284296	2	1	341	1	0	0	0	0	0	0	0	1	10551	639	23	3		3	NLRP6	11	284296	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08		284296	134722220	390	64271											
ANO9	338440	broad.mit.edu	37	chr11	420988	420988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgagcgtctgcttcaggcCcatgatgatggccatctgca	7	10	12	12	1	3	3	1	3	2	0	3	3	3	3	2	2	3	3	2	2	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:420988C>A	ENST00000332826.6	-	17	1531	c.1447G>T	c.(1447-1449)Ggc>Tgc	p.G483C		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	483						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGCTTCAGGCCCATGATGATG	0.701													14	44					6.53275e-17	9.087e-17	1	0	A	420988	C	A	420988	3	1	341	1	0	0	0	0	1	0	0	0	703	623	22	4	929	4	ANO9	11	420988	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	136692	420988	134585528	391	64272											
PHRF1	57661	broad.mit.edu	37	chr11	608969	608969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccccaagctcggagcacagGgcacgggagcacaggcggcc	9	2	15	15	3	0	0	0	0	0	0	2	2	1	2	3	5	3	4	3	5	1	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:608969G>T	ENST00000264555.5	+	14	3641	c.3513G>T	c.(3511-3513)agG>agT	p.R1171S	PHRF1_ENST00000413872.2_Missense_Mutation_p.R1169S|PHRF1_ENST00000416188.2_Missense_Mutation_p.R1170S|PHRF1_ENST00000533464.1_Missense_Mutation_p.R1167S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1171	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CGGAGCACAGGGCACGGGAGC	0.706													9	13					0.00448238	0.00463239	1	0	T	608969	G	T	608969	3	4	341	1	0	0	0	0	1	0	0	0	11933	1223	43	4	3560	4	PHRF1	11	608969	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	187981	608969	134397547	392	64273											
OR51S1	119692	broad.mit.edu	37	chr11	4870251	4870251	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtgcattgggcggtgcAgggcgggctgcagggcaatg	8	6	20	7	2	0	1	0	0	0	1	0	1	0	1	0	5	3	5	0	5	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:4870251A>T	ENST00000322101.2	-	1	263	c.188T>A	c.(187-189)cTg>cAg	p.L63Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGCGGTGCAGGGCGGGCTG	0.572													27	113					0	0	0	0	T	4870251	A	T	4870251	3	4	341	1	0	0	0	0	1	0	0	0	11176	188	7	5	786	5	OR51S1	11	4870251	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	4261282	4870251	130136265	393	64274											
OR52A1	23538	broad.mit.edu	37	chr11	5172787	5172787	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatatggatataaggggaGatgtgagacccaaacctatg	16	8	12	5	0	0	3	0	1	0	3	0	6	0	4	2	3	1	0	2	3	6	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:5172787G>T	ENST00000380367.1	-	2	1230	c.813C>A	c.(811-813)atC>atA	p.I271I	OR52A1_ENST00000328942.1_Silent_p.I271I			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	271					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATAAGGGGAGATGTGAGACC	0.433													26	101					4.47668e-21	6.53307e-21	1	0	T	5172787	G	T	5172787	2	4	341	1	0	0	0	0	0	0	0	1	11179	932	33	2		2	OR52A1	11	5172787	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	302536	5172787	129833729	394	64275											
OR56B1	387748	broad.mit.edu	37	chr11	5758304	5758304	+	Frame_Shift_Del	DEL	C	C	-																															aagaatgaaattgaacactgCctgtgctctaaccttggggt																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:5758304delC	ENST00000317121.3	+	1	624	c.558delC	c.(556-558)tgfs	p.C186fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TTGAACACTGCCTGTGCTCTA	0.502													27	83	---	---	---	---					-	5758304	C	-	5758304	7	5	341	1	0	1	0	1	0	0	0	0	11208	747	26	0	560	0	OR56B1	11	5758304	Frame_Shift_Del	DEL	C	TCGA-CV-A461-01A-41D-A25Y-08	585517	5758304	129248212	395	64276											
OR52N1	79473	broad.mit.edu	37	chr11	5809661	5809661	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcataacgcagagggaagCagatggccacacagtggtcc	12	5	14	10	1	0	2	0	0	0	2	1	3	1	3	2	4	2	3	2	4	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:5809661C>A	ENST00000317078.1	-	1	385	c.386G>T	c.(385-387)tGc>tTc	p.C129F	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAGAGGGAAGCAGATGGCCAC	0.517													22	108					0.000295444	0.000313731	1	0	A	5809661	C	A	5809661	3	1	341	1	0	0	0	0	1	0	0	0	11198	710	25	4	579	4	OR52N1	11	5809661	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	51357	5809661	129196855	396	64277											
OR52L1	338751	broad.mit.edu	37	chr11	6007248	6007248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatagacaagaggattgaGcgcaggtggcatgaggagat	13	7	15	6	1	0	5	0	2	0	3	1	7	1	6	1	4	1	2	1	4	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:6007248G>T	ENST00000332249.4	-	1	967	c.913C>A	c.(913-915)Ctc>Atc	p.L305I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGATTGAGCGCAGGTGGC	0.478													8	25					5.18039e-06	5.82983e-06	1	0	T	6007248	G	T	6007248	3	4	341	1	0	0	0	0	1	0	0	0	11196	971	34	4	80	4	OR52L1	11	6007248	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	197587	6007248	128999268	397	64278											
OR56B4	196335	broad.mit.edu	37	chr11	6129878	6129878	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgtcatcccccctgcActcaaccccctggcctgtgc	7	8	6	20	0	2	0	2	0	0	0	3	0	3	0	6	1	3	1	6	1	2	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:6129878A>G	ENST00000316529.3	+	1	965	c.870A>G	c.(868-870)gcA>gcG	p.A290A	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCCCCTGCACTCAACCCCC	0.507													35	104					0	0	0	0	G	6129878	A	G	6129878	2	3	341	1	0	0	0	0	0	0	0	1	11209	146	6	5		5	OR56B4	11	6129878	Silent	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	122630	6129878	128876638	398	64279											
CNGA4	1262	broad.mit.edu	37	chr11	6261621	6261621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgggcttcgggcgtgaCgcatgggtgtacccggaccc	5	8	15	13	4	0	1	0	1	0	0	1	2	0	2	3	4	2	3	3	4	2	3	rs145756754	by1000genomes	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:6261621C>A	ENST00000379936.2	+	4	712	c.597C>A	c.(595-597)gaC>gaA	p.D199E	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	199					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGGGCGTGACGCATGGGTGT	0.557													36	141					1.36161e-19	1.95748e-19	1	0	A	6261621	C	A	6261621	3	1	341	1	0	0	0	0	1	0	0	0	3629	535	19	3	611	3	CNGA4	11	6261621	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	131743	6261621	128744895	399	64280											
OR10A5	144124	broad.mit.edu	37	chr11	6867574	6867574	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttgtgttcctatactCgcattgctgctgctatcctc	5	17	7	12	1	1	1	0	1	1	0	5	1	3	1	2	0	4	5	2	0	3	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:6867574C>A	ENST00000299454.4	+	1	692	c.661C>A	c.(661-663)Cgc>Agc	p.R221S	OR10A5_ENST00000379831.2_Missense_Mutation_p.R225S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCCTATACTCGCATTGCTGC	0.488													48	195					2.22293e-35	3.43221e-35	1	0	A	6867574	C	A	6867574	3	1	341	1	0	0	0	0	1	0	0	0	10964	884	31	3	663	3	OR10A5	11	6867574	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	605953	6867574	128138942	400	64281											
SBF2	81846	broad.mit.edu	37	chr11	9803081	9803082	+	Frame_Shift_Ins	INS	-	-	T																															aagccttgtcacttgtgtgcINStttggggctcccatgctggg																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:9803081_9803082insT	ENST00000256190.8	-	39	5560_5561	c.5423_5424insA	c.(5422-5424)acafs	p.T1808fs	SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000499953.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1808	PH.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CACTTGTGTGCTTTGGGGCTCC	0.485													40	156	---	---	---	---					T	9803082	-	T	9803081	7	5	341	1	0	1	1	0	0	0	0	0	13945	796	28	0	133	0	SBF2	11	9803081	Frame_Shift_Ins	INS	-	TCGA-CV-A461-01A-41D-A25Y-08	2935507	9803081	125203435	401	64282											
SAAL1	113174	broad.mit.edu	37	chr11	18124868	18124868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcatcatctgagctaGatttggtgttttcagggcta	7	15	10	9	0	4	2	3	1	1	1	5	2	5	2	1	2	1	4	1	2	2	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:18124868G>T	ENST00000524803.1	-	2	210	c.161C>A	c.(160-162)tCt>tAt	p.S54Y	SAAL1_ENST00000300013.4_Missense_Mutation_p.S54Y|SAAL1_ENST00000529318.1_Missense_Mutation_p.S54Y|SAAL1_ENST00000533851.1_5'UTR			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	54					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						ATCTGAGCTAGATTTGGTGTT	0.403													41	163					6.2361e-21	9.08353e-21	1	0	T	18124868	G	T	18124868	3	4	341	1	0	0	0	0	1	0	0	0	13886	942	33	2	1307	2	SAAL1	11	18124868	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	8321787	18124868	116881648	402	64283											
MRGPRX3	117195	broad.mit.edu	37	chr11	18158802	18158802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgacaccaatcaacggacGtgaggagactccttgctaca	13	7	9	12	2	1	3	1	2	0	1	2	5	2	4	2	2	3	1	2	2	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:18158802G>A	ENST00000396275.2	+	3	414	c.53G>A	c.(52-54)cGt>cAt	p.R18H		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	18						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ATCAACGGACGTGAGGAGACT	0.542													53	203					0	0	0	0	A	18158802	G	A	18158802	3	1	341	1	0	0	0	0	1	0	0	0	9838	1145	40	1	55	1	MRGPRX3	11	18158802	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	33934	18158802	116847714	403	64284											
NELL1	4745	broad.mit.edu	37	chr11	21250883	21250883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctggaaacagaacacGatgaatgtggcagcggccag	13	5	12	11	2	1	2	1	1	0	1	1	4	1	3	2	3	3	1	2	3	3	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:21250883G>T	ENST00000298925.5	+	15	1669	c.1516G>T	c.(1516-1518)Gat>Tat	p.D506Y	NELL1_ENST00000532434.1_Missense_Mutation_p.D478Y|NELL1_ENST00000325319.5_Missense_Mutation_p.D421Y|NELL1_ENST00000357134.5_Missense_Mutation_p.D478Y			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	478	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AACAGAACACGATGAATGTGG	0.463													11	54					0.000673444	0.00070447	1	0	T	21250883	G	T	21250883	3	4	341	1	0	0	0	0	1	0	0	0	10403	1058	37	3	1486	3	NELL1	11	21250883	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	3092081	21250883	113755633	404	64285											
NELL1	4745	broad.mit.edu	37	chr11	21556012	21556012	+	Frame_Shift_Del	DEL	G	G	-																															accactgtgagtgcagaagcGgtttccatgacgatgggacc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:21556012delG	ENST00000298925.5	+	17	1975	c.1822delG	c.(1822-1824)gtfs	p.G608fs	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Frame_Shift_Del_p.G580fs|NELL1_ENST00000325319.5_Frame_Shift_Del_p.G523fs|NELL1_ENST00000532434.1_Intron			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	580	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.G580S(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTGCAGAAGCGGTTTCCATGA	0.527													18	80	---	---	---	---					-	21556012	G	-	21556012	7	5	341	1	0	1	0	1	0	0	0	0	10403	1116	39	0	1800	0	NELL1	11	21556012	Frame_Shift_Del	DEL	G	TCGA-CV-A461-01A-41D-A25Y-08	305129	21556012	113450504	405	64286											
DEPDC7	91614	broad.mit.edu	37	chr11	33049357	33049357	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcaaccttgtctccacAaggtaagctaaggatgaagc	12	9	9	11	0	2	1	0	1	2	0	3	2	2	2	2	2	4	3	2	2	5	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:33049357A>G	ENST00000311388.3	+	3	939	c.563A>G	c.(562-564)cAa>cGa	p.Q188R	DEPDC7_ENST00000241051.3_Missense_Mutation_p.Q197R	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	197					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TTGTCTCCACAAGGTAAGCTA	0.338													4	21					0	0	0	0	G	33049357	A	G	33049357	3	3	341	1	0	0	0	0	1	0	0	0	4481	130	5	5	650	5	DEPDC7	11	33049357	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	11493345	33049357	101957159	406	64287											
LRRC4C	57689	broad.mit.edu	37	chr11	40137179	40137179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaaagatccagctcatCtagttttatgagcggtgtga	11	11	10	9	1	2	4	1	2	1	2	3	4	3	4	2	1	2	2	2	1	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:40137179C>A	ENST00000278198.2	-	2	2627	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	LRRC4C_ENST00000527150.1_Missense_Mutation_p.D222Y|LRRC4C_ENST00000528697.1_Missense_Mutation_p.D222Y|LRRC4C_ENST00000530763.1_Missense_Mutation_p.D222Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	222					regulation of axonogenesis	integral to membrane	protein binding	p.D222Y(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCCAGCTCATCTAGTTTTATG	0.468													27	107					9.86323e-18	1.38949e-17	1	0	A	40137179	C	A	40137179	3	1	341	1	0	0	0	0	1	0	0	0	9072	913	32	2	1262	2	LRRC4C	11	40137179	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	7087822	40137179	94869337	407	64288											
CKAP5	9793	broad.mit.edu	37	chr11	46800095	46800095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctccttcatctgtaccacTtgtgctatgcttggaaattc	7	17	6	11	0	3	0	1	0	2	0	5	1	3	1	2	1	3	3	2	1	3	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:46800095T>C	ENST00000529230.1	-	21	2534	c.2488A>G	c.(2488-2490)Agt>Ggt	p.S830G	CKAP5_ENST00000312055.5_Missense_Mutation_p.S830G|CKAP5_ENST00000415402.1_Missense_Mutation_p.S830G|CKAP5_ENST00000354558.3_Missense_Mutation_p.S830G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	830					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTGTACCACTTGTGCTATGC	0.443													46	128					0	0	0	0	C	46800095	T	C	46800095	3	2	341	1	0	0	0	0	1	0	0	0	3475	1609	56	5	3706	5	CKAP5	11	46800095	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	6662916	46800095	88206421	408	64289											
LRP4	4038	broad.mit.edu	37	chr11	46890260	46890260	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcacaccacaggcattGgtccctggaggcaaagtaga	11	9	11	10	0	1	1	1	0	0	1	2	2	2	2	2	4	0	4	2	4	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:46890260G>A	ENST00000378623.1	-	33	5084	c.4842C>T	c.(4840-4842)acC>acT	p.T1614T	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1614					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACAGGCATTGGTCCCTGGAG	0.512													18	39					0	0	0	0	A	46890260	G	A	46890260	2	1	341	1	0	0	0	0	0	0	0	1	9023	1335	47	4		4	LRP4	11	46890260	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	90165	46890260	88116256	409	64290											
PTPRJ	5795	broad.mit.edu	37	chr11	48149384	48149384	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatcagtgccacaagcctGaccctgatctggaaagtcag	13	7	9	12	0	3	2	2	2	1	0	3	3	3	3	3	1	3	0	3	1	3	0	rs145270865		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:48149384G>A	ENST00000418331.2	+	7	1498	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L	PTPRJ_ENST00000440289.2_Silent_p.L382L	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	382	Fibronectin type-III 4.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCACAAGCCTGACCCTGATCT	0.478													31	90					0	0	0	0	A	48149384	G	A	48149384	2	1	341	1	0	0	0	0	0	0	0	1	12886	1277	45	2		2	PTPRJ	11	48149384	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1259124	48149384	86857132	410	64291											
MS4A13	503497	broad.mit.edu	37	chr11	60296880	60296880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtattttactgttcttctacGgtttggaattttctattgca	7	21	7	6	1	3	0	0	0	3	0	3	1	3	1	0	2	3	4	0	2	5	11			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:60296880G>T	ENST00000378186.2	+	6	672	c.349G>T	c.(349-351)Ggt>Tgt	p.G117C	MS4A13_ENST00000378185.2_Missense_Mutation_p.G77C|MS4A13_ENST00000527948.1_Intron|MS4A13_ENST00000437058.2_Missense_Mutation_p.G58C	NM_001012417.2	NP_001012417.2	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	117						integral to membrane				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						GTTCTTCTACGGTTTGGAATT	0.348													13	64					0.000151284	0.000163117	1	0	T	60296880	G	T	60296880	3	4	341	1	0	0	0	0	1	0	0	0	9927	1116	39	3	363	3	MS4A13	11	60296880	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	12147496	60296880	74709636	411	64292											
SYT7	9066	broad.mit.edu	37	chr11	61295584	61295584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaagttgtagccgacaCtgaactggatccggcccagg	9	7	13	12	2	0	1	0	1	0	0	1	4	1	3	4	4	2	2	4	4	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:61295584C>A	ENST00000263846.4	-	5	752	c.425G>T	c.(424-426)aGt>aTt	p.S142I	SYT7_ENST00000542836.1_Missense_Mutation_p.S186I|SYT7_ENST00000540677.1_Missense_Mutation_p.S217I|SYT7_ENST00000535826.1_Missense_Mutation_p.S261I|SYT7_ENST00000539008.1_Missense_Mutation_p.S425I|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542670.1_Missense_Mutation_p.S350I	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	142	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTAGCCGACACTGAACTGGAT	0.662													28	72					3.73148e-12	4.78522e-12	1	0	A	61295584	C	A	61295584	3	1	341	1	0	0	0	0	1	0	0	0	15570	565	20	4	806	4	SYT7	11	61295584	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	998704	61295584	73710932	412	64293											
KCNK4	50801	broad.mit.edu	37	chr11	64067113	64067113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgctgccccgcgcgccgaGaggtcgccgccgcccaaatc	5	3	12	21	8	0	1	0	0	0	1	2	2	0	1	7	1	1	1	7	1	1	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:64067113G>C	ENST00000539216.1	+	6	1457	c.1097G>C	c.(1096-1098)aGa>aCa	p.R366T	RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Missense_Mutation_p.E250D|KCNK4_ENST00000394525.2_Missense_Mutation_p.R366T|KCNK4_ENST00000422670.2_Missense_Mutation_p.R366T			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	366						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CGCGCGCCGAGAGGTCGCCGC	0.731													8	31					0	0	0	0	C	64067113	G	C	64067113	3	2	341	1	0	0	0	0	1	0	0	0	8121	942	33	2	1119	2	KCNK4	11	64067113	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2771529	64067113	70939403	413	64294											
TIGD3	220359	broad.mit.edu	37	chr11	65124370	65124370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcagcttcattcaagaagGgctggctcccggcaaaacgc	11	6	11	13	2	2	1	2	0	0	1	3	1	3	1	1	3	3	5	1	3	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:65124370G>T	ENST00000309880.5	+	2	1298	c.1091G>T	c.(1090-1092)gGg>gTg	p.G364V		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	364					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						ATTCAAGAAGGGCTGGCTCCC	0.647													24	114					1.10923e-09	1.36141e-09	1	0	T	65124370	G	T	65124370	3	4	341	1	0	0	0	0	1	0	0	0	15991	1232	43	4	1093	4	TIGD3	11	65124370	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1057257	65124370	69882146	414	64295											
SNX32	254122	broad.mit.edu	37	chr11	65619987	65619987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgaagctgtcagacatgCtgaggtactacatgcgtgac	11	9	11	10	1	1	4	1	3	0	1	1	4	1	4	1	1	5	3	1	1	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:65619987C>G	ENST00000308342.6	+	10	1302	c.877C>G	c.(877-879)Ctg>Gtg	p.L293V		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	293					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GTCAGACATGCTGAGGTACTA	0.632													24	102					0	0	0	0	G	65619987	C	G	65619987	3	3	341	1	0	0	0	0	1	0	0	0	14990	796	28	4	915	4	SNX32	11	65619987	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	495617	65619987	69386529	415	64296											
ALDH3B1	221	broad.mit.edu	37	chr11	67787208	67787208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttgctgtggtgctgggcGggccccaggagacggggcag	4	7	20	10	2	0	1	0	0	0	1	0	2	0	1	2	6	2	4	2	6	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:67787208G>A	ENST00000539229.1	+	7	618	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	ALDH3B1_ENST00000007633.8_Missense_Mutation_p.G168R|ALDH3B1_ENST00000316367.6_Missense_Mutation_p.G168R|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.G132R|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	169					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	GGTGCTGGGCGGGCCCCAGGA	0.672													19	119					0	0	0	0	A	67787208	G	A	67787208	3	1	341	1	0	0	0	0	1	0	0	0	499	1116	39	1	522	1	ALDH3B1	11	67787208	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2167221	67787208	67219308	416	64297											
FADD	8772	broad.mit.edu	37	chr11	70052514	70052514	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggcccgtgacctccagAacaggagtggggccatgtcc	9	5	14	13	1	0	2	0	1	0	1	2	3	2	3	5	4	2	1	5	4	1	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:70052514A>T	ENST00000301838.4	+	2	859	c.562A>T	c.(562-564)Aac>Tac	p.N188Y	RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	188					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGACCTCCAGAACAGGAGTGG	0.617													12	78					0	0	0	0	T	70052514	A	T	70052514	3	4	341	1	0	0	0	0	1	0	0	0	5405	246	9	5	568	5	FADD	11	70052514	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	2265306	70052514	64954002	417	64298											
RNF121	55298	broad.mit.edu	37	chr11	71698079	71698079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagtggttcctgctaatctAtaaaatcagctatgccactg	12	13	7	9	0	2	0	1	0	1	0	3	0	3	0	2	1	3	3	2	1	6	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:71698079A>G	ENST00000361756.3	+	5	789	c.428A>G	c.(427-429)tAt>tGt	p.Y143C	RNF121_ENST00000545854.1_Missense_Mutation_p.Y62C|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000530137.1_Missense_Mutation_p.Y111C|RNF121_ENST00000393713.3_Missense_Mutation_p.Y111C|RNF121_ENST00000490867.1_3'UTR	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	143						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						CTGCTAATCTATAAAATCAGC	0.418													21	91					0	0	0	0	G	71698079	A	G	71698079	3	3	341	1	0	0	0	0	1	0	0	0	13516	449	16	5	446	5	RNF121	11	71698079	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	1645565	71698079	63308437	418	64299											
C2CD3	26005	broad.mit.edu	37	chr11	73796924	73796924	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagagcgggttcccgttcagCcaaagccctgtagaggagaa	11	7	13	10	2	1	3	1	0	0	3	2	4	2	3	3	2	3	3	3	2	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:73796924C>A	ENST00000334126.7	-	21	3875	c.3649G>T	c.(3649-3651)Gct>Tct	p.A1217S	C2CD3_ENST00000313663.7_Missense_Mutation_p.A1217S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1217	C2 1.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TCCCGTTCAGCCAAAGCCCTG	0.478													7	32					8.12818e-05	8.82554e-05	1	0	A	73796924	C	A	73796924	3	1	341	1	0	0	0	0	1	0	0	0	2174	739	26	4	2286	4	C2CD3	11	73796924	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2098845	73796924	61209592	419	64300											
C11orf30	56946	broad.mit.edu	37	chr11	76239436	76239436	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggtaattcatctattcAggaaggaaaagaagaaccac	16	8	10	7	0	3	2	2	0	1	2	3	4	3	4	1	4	1	2	1	4	7	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:76239436A>G	ENST00000529032.1	+	13	2120	c.2120A>G	c.(2119-2121)cAg>cGg	p.Q707R	C11orf30_ENST00000533248.1_Missense_Mutation_p.Q721R|C11orf30_ENST00000524490.1_Missense_Mutation_p.Q623R|C11orf30_ENST00000525038.1_Missense_Mutation_p.Q722R|C11orf30_ENST00000524767.1_Missense_Mutation_p.Q722R|C11orf30_ENST00000343878.3_Missense_Mutation_p.Q707R|C11orf30_ENST00000334736.3_Missense_Mutation_p.Q707R|C11orf30_ENST00000525919.1_Missense_Mutation_p.Q708R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	707					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCATCTATTCAGGAAGGAAAA	0.393													35	112					0	0	0	0	G	76239436	A	G	76239436	3	3	341	1	0	0	0	0	1	0	0	0	1647	188	7	5	2170	5	C11orf30	11	76239436	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	2442512	76239436	58767080	420	64301											
MYO7A	4647	broad.mit.edu	37	chr11	76868401	76868401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggatcagaagaagaagctggGcttgggccaggcctctgact	10	7	15	9	0	2	4	1	1	1	3	2	5	2	5	2	4	1	2	2	4	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:76868401G>T	ENST00000409709.3	+	8	1084	c.812G>T	c.(811-813)gGc>gTc	p.G271V	MYO7A_ENST00000409619.2_Missense_Mutation_p.G260V|MYO7A_ENST00000458637.2_Missense_Mutation_p.G271V|MYO7A_ENST00000409893.1_Missense_Mutation_p.G271V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	271	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGAAGCTGGGCTTGGGCCAG	0.582													9	12					0.000274275	0.000291653	1	0	T	76868401	G	T	76868401	3	4	341	1	0	0	0	0	1	0	0	0	10152	1203	42	4	838	4	MYO7A	11	76868401	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	628965	76868401	58138115	421	64302											
ANKRD42	338699	broad.mit.edu	37	chr11	82951886	82951886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaattgatgaaaatgatGtgaaatattttataagacat	19	14	7	1	0	0	6	0	5	0	1	0	6	0	6	0	0	0	0	0	0	7	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:82951886G>A	ENST00000260047.6	+	9	1897	c.1102G>A	c.(1102-1104)Gtg>Atg	p.V368M	ANKRD42_ENST00000393392.2_Missense_Mutation_p.V341M|ANKRD42_ENST00000533342.1_Missense_Mutation_p.V369M|ANKRD42_ENST00000531895.1_Missense_Mutation_p.V369M			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	341										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TGAAAATGATGTGAAATATTT	0.373													36	102					0	0	0	0	A	82951886	G	A	82951886	3	1	341	1	0	0	0	0	1	0	0	0	669	1377	48	4	1055	4	ANKRD42	11	82951886	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	6083485	82951886	52054630	422	64303											
TYR	7299	broad.mit.edu	37	chr11	88924383	88924383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgtacagattgtctgtagccGattggaggagtacaacagcc	11	10	12	8	1	1	1	0	0	1	1	1	4	1	3	2	2	5	3	2	2	4	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:88924383G>C	ENST00000263321.5	+	2	1335	c.833G>C	c.(832-834)cGa>cCa	p.R278P	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	278					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GTCTGTAGCCGATTGGAGGAG	0.463													25	98					0	0	0	0	C	88924383	G	C	88924383	3	2	341	1	0	0	0	0	1	0	0	0	16909	1058	37	3	839	3	TYR	11	88924383	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	5972497	88924383	46082133	423	64304											
FAT3	120114	broad.mit.edu	37	chr11	92086468	92086468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctggtgtcgtggttgctaTagtaaaattaagtcctgaac	10	14	10	7	1	0	1	0	1	0	0	3	1	2	1	2	2	2	3	2	2	6	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:92086468T>C	ENST00000298047.6	+	1	1207	c.1190T>C	c.(1189-1191)aTa>aCa	p.I397T	FAT3_ENST00000541502.1_Missense_Mutation_p.I397T|FAT3_ENST00000409404.2_Missense_Mutation_p.I397T|FAT3_ENST00000525166.1_Missense_Mutation_p.I247T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	397	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGTTGCTATAGTAAAATTA	0.413										TCGA Ovarian(4;0.039)			7	36					0	0	0	0	C	92086468	T	C	92086468	3	2	341	1	0	0	0	0	1	0	0	0	5736	1406	49	5	1192	5	FAT3	11	92086468	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	3162085	92086468	42920048	424	64305											
FAT3	120114	broad.mit.edu	37	chr11	92498056	92498056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagtagataaaggcagtGgacaatgggcgcccacagaa	14	6	14	7	1	0	3	0	1	0	2	0	4	0	4	1	3	0	2	1	3	5	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:92498056G>A	ENST00000298047.6	+	5	4013	c.3996G>A	c.(3994-3996)gtG>gtA	p.V1332V	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Silent_p.V1332V|FAT3_ENST00000525166.1_Silent_p.V1182V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1332	Cadherin 12.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAAAGGCAGTGGACAATGGGC	0.502										TCGA Ovarian(4;0.039)			10	44					0	0	0	0	A	92498056	G	A	92498056	2	1	341	1	0	0	0	0	0	0	0	1	5736	1335	47	4		4	FAT3	11	92498056	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	411588	92498056	42508460	425	64306											
FOLR4	390243	broad.mit.edu	37	chr11	94040346	94040346	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtggccccgagtgggCagggagagcgagttgtgaat	8	6	18	9	2	0	2	0	1	0	1	0	5	0	2	3	4	1	2	3	4	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:94040346C>A	ENST00000440961.2	+	3	387	c.343C>A	c.(343-345)Cag>Aag	p.Q115K		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	122						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CCCGAGTGGGCAGGGAGAGCG	0.517													9	17					1.58986e-06	1.80496e-06	1	0	A	94040346	C	A	94040346	3	1	341	1	0	0	0	0	1	0	0	0	6029	711	25	4	353	4	FOLR4	11	94040346	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1542290	94040346	40966170	426	64307											
CEP57	9702	broad.mit.edu	37	chr11	95551054	95551054	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaaacttaccacaatgcAggcccttgcagaagtcagtg	14	8	8	11	0	1	1	1	0	0	1	1	1	1	1	2	1	5	2	2	1	5	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:95551054A>C	ENST00000325542.5	+	5	846	c.608A>C	c.(607-609)cAg>cCg	p.Q203P	CEP57_ENST00000541150.1_Missense_Mutation_p.Q194P|CEP57_ENST00000537677.1_Missense_Mutation_p.Q176P|CEP57_ENST00000325486.5_Missense_Mutation_p.Q203P|CEP57_ENST00000538658.1_Missense_Mutation_p.Q203P	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	203	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACCACAATGCAGGCCCTTGCA	0.343									Mosaic Variegated Aneuploidy Syndrome				42	148					0	0	0	0	C	95551054	A	C	95551054	3	2	341	1	0	0	0	0	1	0	0	0	3285	188	7	5	626	5	CEP57	11	95551054	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	1510708	95551054	39455462	427	64308											
MMP12	4321	broad.mit.edu	37	chr11	102738654	102738654	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccatacagggactgaaTgccacgtatgtcatcagcag	12	8	9	12	1	3	1	3	1	0	0	3	2	3	2	2	1	3	2	2	1	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:102738654T>C	ENST00000532855.1	-	0	867							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGGACTGAATGCCACGTATG	0.383													4	18					0	0	0	0	C	102738654	T	C	102738654	1	2	341	0	1	0	0	0	0	0	0	0	9720	1451	51	5		5	MMP12	11	102738654	RNA	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	7187600	102738654	32267862	428	64309											
CASP1	834	broad.mit.edu	37	chr11	104900411	104900411	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacggcaggcctggatGatgatcaccttcggtttgtc	7	10	11	13	2	1	2	1	2	0	0	3	3	1	3	4	4	0	2	4	4	0	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:104900411G>T	ENST00000533400.1	-	6	878	c.843C>A	c.(841-843)atC>atA	p.I281I	CASP1_ENST00000525825.1_Silent_p.I260I|CASP1_ENST00000446369.1_Silent_p.I188I|CASP1_ENST00000436863.3_Silent_p.I281I|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000598974.1_Silent_p.I281I|CASP1_ENST00000594519.1_Silent_p.I188I|CASP1_ENST00000593315.1_Silent_p.I260I|CASP1_ENST00000534497.1_Silent_p.I188I|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000528974.1_Silent_p.I242I|CASP1_ENST00000393136.4_Silent_p.I260I|CASP1_ENST00000527979.1_Silent_p.I244I|CASP1_ENST00000526568.1_Silent_p.I188I	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	281					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AGGCCTGGATGATGATCACCT	0.423													16	64					6.31663e-08	7.42228e-08	1	0	T	104900411	G	T	104900411	2	4	341	1	0	0	0	0	0	0	0	1	2693	1280	45	2		2	CASP1	11	104900411	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2161757	104900411	30106105	429	64310											
ZBTB16	7704	broad.mit.edu	37	chr11	114121088	114121088	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctctgccaccagcgctcCcgggactactcggccatgat	8	7	10	16	3	1	1	0	1	1	0	3	2	2	2	4	2	4	2	4	2	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:114121088C>A	ENST00000335953.4	+	7	2213	c.1833C>A	c.(1831-1833)tcC>tcA	p.S611S	ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Silent_p.S611S|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	611					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		ACCAGCGCTCCCGGGACTACT	0.622													28	96					5.45727e-16	7.44348e-16	1	0	A	114121088	C	A	114121088	2	1	341	1	0	0	0	0	0	0	0	1	17621	610	22	4		4	ZBTB16	11	114121088	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	9220677	114121088	20885428	430	64311											
DSCAML1	57453	broad.mit.edu	37	chr11	117329501	117329501	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctggatgtagagcacactGctgcgtacgccgtccccagc	7	8	12	14	3	1	1	0	0	1	1	2	2	2	2	3	1	5	4	3	1	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:117329501G>C	ENST00000321322.6	-	19	3718	c.3717C>G	c.(3715-3717)agC>agG	p.S1239R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S969R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1179	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGAGCACACTGCTGCGTACGC	0.667													6	56					0	0	0	0	C	117329501	G	C	117329501	3	2	341	1	0	0	0	0	1	0	0	0	4805	1310	46	4	2684	4	DSCAML1	11	117329501	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	3208413	117329501	17677015	431	64312											
TMPRSS13	84000	broad.mit.edu	37	chr11	117780580	117780580	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaatgagcgtgcctccacaGatgtgggtggtgccgaagtg	8	9	15	9	2	1	2	1	1	0	1	2	3	2	2	3	2	3	0	3	2	2	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:117780580G>A	ENST00000528626.1	-	7	1018	c.945C>T	c.(943-945)atC>atT	p.I315I	TMPRSS13_ENST00000430170.2_Silent_p.I350I|TMPRSS13_ENST00000526090.1_Silent_p.I350I|TMPRSS13_ENST00000524993.1_Silent_p.I350I|TMPRSS13_ENST00000445164.2_Silent_p.I350I	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	345	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGCCTCCACAGATGTGGGTGG	0.632													11	39					0	0	0	0	A	117780580	G	A	117780580	2	1	341	1	0	0	0	0	0	0	0	1	16339	932	33	2		2	TMPRSS13	11	117780580	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	451079	117780580	17225936	432	64313											
PVRL1	5818	broad.mit.edu	37	chr11	119536008	119536008	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacggggtgtaggggaattCtgggtgaggaaaagagatgg	12	7	20	2	1	1	3	0	1	1	2	1	6	1	5	0	7	0	1	0	7	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:119536008C>T	ENST00000264025.3	-	6	1534		c.e6-1		PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)						adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TAGGGGAATTCTGGGTGAGGA	0.662													7	25					0	0	0	0	T	119536008	C	T	119536008	5	4	341	1	0	0	0	0	0	0	1	0	12921	927	32	2	940	2	PVRL1	11	119536008	Splice_Site	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1755428	119536008	15470508	433	64314											
TECTA	7007	broad.mit.edu	37	chr11	120980195	120980195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgttttatggaggcagCagcaccacacctgtaataat	12	10	9	10	1	1	0	1	0	0	0	1	1	1	1	2	2	2	5	2	2	3	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:120980195C>A	ENST00000392793.1	+	4	745	c.474C>A	c.(472-474)agC>agA	p.S158R	TECTA_ENST00000264037.2_Missense_Mutation_p.S158R			O75443	TECTA_HUMAN	tectorin alpha	158	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATGGAGGCAGCAGCACCACAC	0.428													12	58					5.50884e-06	6.17246e-06	1	0	A	120980195	C	A	120980195	3	1	341	1	0	0	0	0	1	0	0	0	15841	709	25	4	484	4	TECTA	11	120980195	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1444187	120980195	14026321	434	64315											
SORL1	6653	broad.mit.edu	37	chr11	121483539	121483539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaagcatattgtcacacaAaggtaacactttggtgctgg	13	10	11	7	0	1	0	1	0	0	0	1	1	1	1	0	4	3	3	0	4	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:121483539A>G	ENST00000260197.7	+	40	5546	c.5417A>G	c.(5416-5418)aAa>aGa	p.K1806R	SORL1_ENST00000525532.1_Missense_Mutation_p.K750R|SORL1_ENST00000527934.1_Missense_Mutation_p.K421R|SORL1_ENST00000534286.1_Missense_Mutation_p.K716R|SORL1_ENST00000532694.1_Missense_Mutation_p.K652R	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1806	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTGTCACACAAAGGTAACACT	0.527													5	17					0	0	0	0	G	121483539	A	G	121483539	3	3	341	1	0	0	0	0	1	0	0	0	15022	14	1	5	5575	5	SORL1	11	121483539	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	503344	121483539	13522977	435	64316											
HSPA8	3312	broad.mit.edu	37	chr11	122930385	122930385	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacggaacaggtcagcatTcagttcttcaaatcgggcac	11	8	10	12	2	4	0	3	0	1	0	5	1	4	1	1	3	2	3	1	3	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:122930385T>C	ENST00000534624.1	-	5	1192	c.916A>G	c.(916-918)Aat>Gat	p.N306D	HSPA8_ENST00000534319.1_Missense_Mutation_p.N70D|HSPA8_ENST00000526110.1_Missense_Mutation_p.N287D|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_Missense_Mutation_p.N306D|HSPA8_ENST00000453788.2_Missense_Mutation_p.N306D|HSPA8_ENST00000533540.1_Missense_Mutation_p.N160D|HSPA8_ENST00000532636.1_Missense_Mutation_p.N306D	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	306	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGTCAGCATTCAGTTCTTCA	0.493													15	63					0	0	0	0	C	122930385	T	C	122930385	3	2	341	1	0	0	0	0	1	0	0	0	7468	1783	62	5	1044	5	HSPA8	11	122930385	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	1446846	122930385	12076131	436	64317											
OR6T1	219874	broad.mit.edu	37	chr11	123813975	123813975	+	Frame_Shift_Del	DEL	C	C	-																															cagtttcagcaggtgggtgtCcccacaagaaagcctgagca																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:123813975delC	ENST00000321252.2	-	1	605	c.571delG	c.(571-573)acfs	p.D191fs		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGGTGGGTGTCCCCACAAGAA	0.547													14	65	---	---	---	---					-	123813975	C	-	123813975	7	5	341	1	0	1	0	1	0	0	0	0	11281	855	30	0	403	0	OR6T1	11	123813975	Frame_Shift_Del	DEL	C	TCGA-CV-A461-01A-41D-A25Y-08	883590	123813975	11192541	437	64318											
OR10G9	219870	broad.mit.edu	37	chr11	123894530	123894530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacgtcgtggatggagttGtggccattttctacactgtg	6	13	15	7	2	1	0	0	0	1	0	2	3	1	3	1	4	1	1	1	4	1	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:123894530G>A	ENST00000375024.1	+	1	811	c.811G>A	c.(811-813)Gtg>Atg	p.V271M		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGATGGAGTTGTGGCCATTTT	0.498													28	132					0	0	0	0	A	123894530	G	A	123894530	3	1	341	1	0	0	0	0	1	0	0	0	10975	1377	48	4	813	4	OR10G9	11	123894530	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	80555	123894530	11111986	438	64319											
OR8B2	26595	broad.mit.edu	37	chr11	124253215	124253215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagaataaattcagtcaCtaaggagttgtttctagcca	15	11	8	7	0	3	1	2	0	1	1	3	2	3	2	1	1	2	3	1	1	6	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:124253215C>T	ENST00000375013.2	-	1	43	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATTCAGTCACTAAGGAGTTG	0.363													26	113					0	0	0	0	T	124253215	C	T	124253215	3	4	341	1	0	0	0	0	1	0	0	0	11298	565	20	4	919	4	OR8B2	11	124253215	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	358685	124253215	10753301	439	64320											
HEPACAM	220296	broad.mit.edu	37	chr11	124793733	124793733	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgcgggtgatggtgagcaCcttttggtcgggggacagga	7	8	18	8	3	0	2	0	2	0	0	1	4	0	4	1	6	1	1	1	6	0	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:124793733C>G	ENST00000298251.4	-	3	1006	c.601G>C	c.(601-603)Gtg>Ctg	p.V201L		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	201	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ATGGTGAGCACCTTTTGGTCG	0.592													10	50					0	0	0	0	G	124793733	C	G	124793733	3	3	341	1	0	0	0	0	1	0	0	0	7102	507	18	4	669	4	HEPACAM	11	124793733	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	540518	124793733	10212783	440	64321											
SLC37A2	219855	broad.mit.edu	37	chr11	124950548	124950548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctggaattcccacacatCtgtgggcaacatcctgggct	9	10	9	13	0	2	0	0	0	2	0	4	1	4	1	2	3	1	2	2	3	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:124950548C>T	ENST00000403796.2	+	7	867	c.566C>T	c.(565-567)tCt>tTt	p.S189F	SLC37A2_ENST00000407458.1_Missense_Mutation_p.S189F|SLC37A2_ENST00000308074.4_Missense_Mutation_p.S189F|SLC37A2_ENST00000298280.5_Missense_Mutation_p.S189F	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	189					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCCCACACATCTGTGGGCAAC	0.547													12	60					0	0	0	0	T	124950548	C	T	124950548	3	4	341	1	0	0	0	0	1	0	0	0	14686	913	32	2	592	2	SLC37A2	11	124950548	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	156815	124950548	10055968	441	64322											
KIRREL3	84623	broad.mit.edu	37	chr11	126314917	126314917	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctccccggctcccacacgGggcaccacagcccggcacac	7	3	9	22	3	1	0	0	0	1	0	3	0	2	0	5	4	1	3	5	4	0	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:126314917G>T	ENST00000525144.2	-	10	1458	c.1209C>A	c.(1207-1209)ccC>ccA	p.P403P	KIRREL3_ENST00000525704.2_Silent_p.P403P|KIRREL3_ENST00000529097.2_Silent_p.P403P	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	403	Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTCCCACACGGGGCACCACAG	0.632													12	58					4.3838e-07	5.05119e-07	1	0	T	126314917	G	T	126314917	2	4	341	1	0	0	0	0	0	0	0	1	8378	1219	43	4		4	KIRREL3	11	126314917	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1364369	126314917	8691599	442	64323											
NCAPD3	23310	broad.mit.edu	37	chr11	134023222	134023222	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgtggtgtcccgatgtaaCtgacccctgctccaaacgtg	7	10	10	14	3	0	1	0	1	0	0	3	2	3	1	5	1	3	2	5	1	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr11:134023222C>G	ENST00000534548.2	-	33	4353	c.4289G>C	c.(4288-4290)aGt>aCt	p.S1430T	NCAPD3_ENST00000526787.2_5'UTR	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1430					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCCGATGTAACTGACCCCTGC	0.532													51	212					0	0	0	0	G	134023222	C	G	134023222	3	3	341	1	0	0	0	0	1	0	0	0	10276	565	20	4	219	4	NCAPD3	11	134023222	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	7708305	134023222	983294	443	64324											
GPR162	27239	broad.mit.edu	37	chr12	6933779	6933779	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgggtacccggccagctTttgaggtaccagccattgtg	6	11	12	12	1	0	1	0	1	0	0	0	1	0	1	5	3	4	3	5	3	2	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:6933779T>G	ENST00000311268.3	+	2	1502	c.715T>G	c.(715-717)Ttt>Gtt	p.F239V	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	239						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CCGGCCAGCTTTTGAGGTACC	0.687													22	75					0	0	0	0	G	6933779	T	G	6933779	3	3	341	1	0	0	0	0	1	0	0	0	6715	1841	64	5	736	5	GPR162	12	6933779	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08		6933779	126918116	444	64325											
DPPA3	359787	broad.mit.edu	37	chr12	7867803	7867803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaaatctcctccgagaCgttgataaagaaccttagta	13	11	6	11	2	2	3	1	1	2	2	5	4	3	3	3	0	1	2	3	0	6	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:7867803C>A	ENST00000345088.2	+	2	224	c.107C>A	c.(106-108)aCg>aAg	p.T36K		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	36						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TCCTCCGAGACGTTGATAAAG	0.453													49	146					4.21674e-32	6.44618e-32	1	0	A	7867803	C	A	7867803	3	1	341	1	0	0	0	0	1	0	0	0	4771	536	19	3	113	3	DPPA3	12	7867803	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	934024	7867803	125984092	445	64326											
SLC2A14	144195	broad.mit.edu	37	chr12	7982600	7982600	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacaatcagcattgaattgCgcctgtaaggttaatcaaag	14	11	9	7	1	2	2	2	2	0	0	2	2	2	2	1	1	2	3	1	1	5	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:7982600C>A	ENST00000543909.1	-	10	1103	c.344G>T	c.(343-345)cGc>cTc	p.R115L	SLC2A14_ENST00000535295.1_Missense_Mutation_p.R6L|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R115L|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R6L|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R92L|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R92L|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R130L|SLC2A14_ENST00000542505.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	115					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.R115H(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CATTGAATTGCGCCTGTAAGG	0.458													20	38					1.96292e-10	2.4481e-10	1	0	A	7982600	C	A	7982600	3	1	341	1	0	0	0	0	1	0	0	0	14631	768	27	3	1246	3	SLC2A14	12	7982600	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	114797	7982600	125869295	446	64327											
PHC1	1911	broad.mit.edu	37	chr12	9083498	9083498	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacggacagccacacctgcGcccagccagacacttattag	12	5	8	16	2	0	1	0	0	0	1	0	2	0	2	4	1	3	0	4	1	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:9083498G>T	ENST00000433083.2	+	6	1090	c.945G>T	c.(943-945)gcG>gcT	p.A315A	PHC1_ENST00000536844.1_Silent_p.A139A|PHC1_ENST00000544916.1_Silent_p.A360A|PHC1_ENST00000543824.1_Silent_p.A360A|PHC1_ENST00000433847.2_3'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	360					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CCACACCTGCGCCCAGCCAGA	0.468													5	32					3.59834e-05	3.9459e-05	1	0	T	9083498	G	T	9083498	2	4	341	1	0	0	0	0	0	0	0	1	11888	1074	38	3		3	PHC1	12	9083498	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1100898	9083498	124768397	447	64328											
KLRC3	3823	broad.mit.edu	37	chr12	10570964	10570964	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcttcttcattatctatAcaaagcagactagaagagtt	14	15	5	7	0	4	3	1	0	3	3	4	3	4	3	0	0	2	2	0	0	6	8			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:10570964A>T	ENST00000396439.2	-	4	509	c.465T>A	c.(463-465)tgT>tgA	p.C155*	NKG2-E_ENST00000539033.1_Nonsense_Mutation_p.C155*|KLRC3_ENST00000381904.2_Nonsense_Mutation_p.C155*|KLRC3_ENST00000381903.2_Nonsense_Mutation_p.C155*	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CATTATCTATACAAAGCAGAC	0.323													48	183					0	0	0	0	T	10570964	A	T	10570964	4	4	341	1	0	0	0	0	0	1	0	0	8469	389	14	5	369	5	KLRC3	12	10570964	Nonsense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	1487466	10570964	123280931	448	64329											
GUCY2C	2984	broad.mit.edu	37	chr12	14778766	14778766	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtcctttcctctaccAgatgttccaggtttcgagaa	7	14	9	11	1	1	2	0	0	1	2	5	3	4	2	4	1	1	3	4	1	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:14778766A>T	ENST00000261170.3	-	21	2469	c.2333T>A	c.(2332-2334)cTg>cAg	p.L778Q		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	778					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTCCTCTACCAGATGTTCCAG	0.433													26	135					0	0	0	0	T	14778766	A	T	14778766	3	4	341	1	0	0	0	0	1	0	0	0	6946	188	7	5	916	5	GUCY2C	12	14778766	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	4207802	14778766	119073129	449	64330											
PDE3A	5139	broad.mit.edu	37	chr12	20833091	20833091	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatagaaaatcaatccctGgaccagacccctcagtcgca	13	6	8	14	1	2	2	2	0	0	2	4	3	3	3	4	2	0	2	4	2	4	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:20833091G>C	ENST00000359062.3	+	16	3352	c.3312G>C	c.(3310-3312)ctG>ctC	p.L1104L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1104					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATCAATCCCTGGACCAGACCC	0.473													27	125					0	0	0	0	C	20833091	G	C	20833091	2	2	341	1	0	0	0	0	0	0	0	1	11708	1335	47	4		4	PDE3A	12	20833091	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	6054325	20833091	113018804	450	64331											
BCAT1	586	broad.mit.edu	37	chr12	25047240	25047240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaaagctgatgagccaGggtgcaatgacaggttctga	12	8	14	7	0	1	4	0	4	1	0	1	4	1	4	1	2	4	4	1	2	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:25047240G>A	ENST00000261192.7	-	3	774	c.248C>T	c.(247-249)cCt>cTt	p.P83L	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Missense_Mutation_p.P82L|BCAT1_ENST00000539282.1_Missense_Mutation_p.P95L|BCAT1_ENST00000342945.5_Missense_Mutation_p.P59L|BCAT1_ENST00000539780.1_Missense_Mutation_p.P83L	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	83					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TGATGAGCCAGGGTGCAATGA	0.478													10	33					0	0	0	0	A	25047240	G	A	25047240	3	1	341	1	0	0	0	0	1	0	0	0	1358	1000	35	4	948	4	BCAT1	12	25047240	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	4214149	25047240	108804655	451	64332											
ITPR2	3709	broad.mit.edu	37	chr12	26589271	26589271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgagaaccagaacagtgCagggttatctaggaagtgag	13	7	13	8	1	1	3	0	1	1	2	2	5	1	4	2	2	3	2	2	2	5	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:26589271C>T	ENST00000381340.3	-	48	7068	c.6652G>A	c.(6652-6654)Gca>Aca	p.A2218T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2218					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGAACAGTGCAGGGTTATCT	0.408													6	30					0	0	0	0	T	26589271	C	T	26589271	3	4	341	1	0	0	0	0	1	0	0	0	7974	710	25	4	1493	4	ITPR2	12	26589271	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1542031	26589271	107262624	452	64333											
C12orf40	283461	broad.mit.edu	37	chr12	40114611	40114611	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgaagatgaagatcaaaTatcacagcaaattgaagatt	19	10	7	5	0	3	6	2	3	1	3	3	6	3	6	0	0	1	1	0	0	6	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:40114611T>A	ENST00000324616.5	+	13	1671	c.1517T>A	c.(1516-1518)aTa>aAa	p.I506K		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	506										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GAAGATCAAATATCACAGCAA	0.289													14	76					0	0	0	0	A	40114611	T	A	40114611	3	1	341	1	0	0	0	0	1	0	0	0	1698	1406	49	5	1567	5	C12orf40	12	40114611	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	13525340	40114611	93737284	453	64334											
SLC4A8	9498	broad.mit.edu	37	chr12	51857496	51857496	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagaacttcagcgcactggGcggtaagtcctgggacgttt	8	9	13	11	3	1	1	1	0	0	1	2	2	2	2	2	3	2	3	2	3	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:51857496G>C	ENST00000453097.2	+	11	1564	c.1347G>C	c.(1345-1347)ggG>ggC	p.G449G	SLC4A8_ENST00000535225.2_Silent_p.G396G|SLC4A8_ENST00000394856.1_Silent_p.G396G|SLC4A8_ENST00000358657.3_Silent_p.G476G|SLC4A8_ENST00000514353.3_Silent_p.G396G	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	449					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGCGCACTGGGCGGTAAGTCC	0.488													11	73					0	0	0	0	C	51857496	G	C	51857496	2	2	341	1	0	0	0	0	0	0	0	1	14747	1190	42	4		4	SLC4A8	12	51857496	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	11742885	51857496	81994399	454	64335											
KRT72	140807	broad.mit.edu	37	chr12	52986737	52986737	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaatctccacctcatacCtgcatggggcaagacaatga	12	10	8	11	0	2	2	1	1	1	1	3	2	2	2	3	2	2	3	3	2	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:52986737C>A	ENST00000293745.2	-	3	727		c.e3-1		KRT72_ENST00000398066.3_Splice_Site|KRT72_ENST00000537672.2_Splice_Site|KRT72_ENST00000354310.4_Splice_Site	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72							keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CACCTCATACCTGCATGGGGC	0.517													21	51					2.4624e-09	2.99365e-09	1	0	A	52986737	C	A	52986737	5	1	341	1	0	0	0	0	0	0	1	0	8537	695	24	4	922	4	KRT72	12	52986737	Splice_Site	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1129241	52986737	80865158	455	64336											
HOXC8	3224	broad.mit.edu	37	chr12	54403307	54403307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaacccgtgctcgcttaGctgccacggagacgcctcca	8	6	11	16	4	0	2	0	0	0	2	2	3	1	2	4	1	4	4	4	1	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:54403307G>T	ENST00000040584.4	+	1	476	c.239G>T	c.(238-240)aGc>aTc	p.S80I		NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	80						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						TGCTCGCTTAGCTGCCACGGA	0.607													72	270					6.5469e-37	1.01287e-36	1	0	T	54403307	G	T	54403307	3	4	341	1	0	0	0	0	1	0	0	0	7366	971	34	4	241	4	HOXC8	12	54403307	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1416570	54403307	79448588	456	64337											
ERBB3	2065	broad.mit.edu	37	chr12	56492688	56492688	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctacatggtgatggtcaaGtgtgagttacctgctgagcc	8	12	13	8	0	2	3	1	3	1	0	2	3	2	3	2	2	4	2	2	2	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:56492688G>A	ENST00000267101.3	+	23	3278	c.2839_splice	c.e23+1	p.K946_splice	ERBB3_ENST00000549832.1_Splice_Site_p.K66_splice|ERBB3_ENST00000415288.2_Splice_Site_p.K887_splice|ERBB3_ENST00000450146.2_Splice_Site_p.K303_splice|ERBB3_ENST00000553131.1_Splice_Site_p.K187_splice	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	946	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGATGGTCAAGTGTGAGTTAC	0.453													31	62					0	0	0	0	A	56492688	G	A	56492688	5	1	341	1	0	0	0	0	0	0	1	0	5246	1043	36	4	3059	4	ERBB3	12	56492688	Splice_Site	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2089381	56492688	77359207	457	64338											
ANKRD52	283373	broad.mit.edu	37	chr12	56650821	56650821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttcgggaggcagcagcaCgatgaagaggggtcagccac	10	5	16	10	3	1	2	1	1	0	1	2	4	1	3	1	4	3	4	1	4	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:56650821C>T	ENST00000267116.7	-	4	360	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	80							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGCAGCAGCACGATGAAGAGG	0.488													5	23					0	0	0	0	T	56650821	C	T	56650821	3	4	341	1	0	0	0	0	1	0	0	0	677	536	19	1	3091	1	ANKRD52	12	56650821	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	158133	56650821	77201074	458	64339											
SRGAP1	57522	broad.mit.edu	37	chr12	64472756	64472756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagatatggtcaccatcgagGactatgatgtttctgaatgc	12	12	10	7	1	2	3	1	2	1	1	3	5	2	4	1	2	1	1	1	2	4	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:64472756G>T	ENST00000355086.3	+	9	1707	c.1183G>T	c.(1183-1185)Gac>Tac	p.D395Y	SRGAP1_ENST00000357825.3_Missense_Mutation_p.D395Y|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D355Y|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	395					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CACCATCGAGGACTATGATGT	0.433													18	71					5.35267e-07	6.15836e-07	1	0	T	64472756	G	T	64472756	3	4	341	1	0	0	0	0	1	0	0	0	15235	1174	41	2	1217	2	SRGAP1	12	64472756	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	7821935	64472756	69379139	459	64340											
NAV3	89795	broad.mit.edu	37	chr12	78573385	78573385	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagagaaaaggaattaaaaTtaacggatattcggctggag	17	9	11	4	2	1	1	1	0	0	1	2	5	1	4	0	4	1	1	0	4	7	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:78573385T>C	ENST00000397909.2	+	29	5613	c.5440T>C	c.(5440-5442)Tta>Cta	p.L1814L	NAV3_ENST00000536525.2_Silent_p.L1792L|NAV3_ENST00000266692.7_Silent_p.L1615L|NAV3_ENST00000228327.6_Silent_p.L1792L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1814						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGAATTAAAATTAACGGATAT	0.468										HNSCC(70;0.22)			26	91					0	0	0	0	C	78573385	T	C	78573385	2	2	341	1	0	0	0	0	0	0	0	1	10255	1490	52	5		5	NAV3	12	78573385	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	14100629	78573385	55278510	460	64341											
NAV3	89795	broad.mit.edu	37	chr12	78582509	78582509	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgcctgaattgctgcctTgtggataccttgttggagat	8	14	12	7	0	0	2	0	1	0	1	0	4	0	3	3	2	4	2	3	2	3	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:78582509T>A	ENST00000397909.2	+	33	6180	c.6007T>A	c.(6007-6009)Tgt>Agt	p.C2003S	NAV3_ENST00000536525.2_Missense_Mutation_p.C1981S|NAV3_ENST00000552300.1_Intron|NAV3_ENST00000266692.7_Missense_Mutation_p.C1804S|NAV3_ENST00000228327.6_Missense_Mutation_p.C1981S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2003						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTGCTGCCTTGTGGATACCT	0.383										HNSCC(70;0.22)			19	102					0	0	0	0	A	78582509	T	A	78582509	3	1	341	1	0	0	0	0	1	0	0	0	10255	1812	63	5	6067	5	NAV3	12	78582509	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	9124	78582509	55269386	461	64342											
NAV3	89795	broad.mit.edu	37	chr12	78583812	78583812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttgatacgctgattcCtaaaccaattacccaaaggt	12	14	6	9	1	0	2	0	2	0	0	1	2	1	2	3	1	3	2	3	1	6	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:78583812C>T	ENST00000397909.2	+	34	6277	c.6104C>T	c.(6103-6105)cCt>cTt	p.P2035L	NAV3_ENST00000536525.2_Missense_Mutation_p.P2013L|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Missense_Mutation_p.P1836L|NAV3_ENST00000228327.6_Missense_Mutation_p.P2013L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2035						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACGCTGATTCCTAAACCAATT	0.353										HNSCC(70;0.22)			19	107					0	0	0	0	T	78583812	C	T	78583812	3	4	341	1	0	0	0	0	1	0	0	0	10255	681	24	4	6168	4	NAV3	12	78583812	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1303	78583812	55268083	462	64343											
PPFIA2	8499	broad.mit.edu	37	chr12	81741330	81741330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accagtgtcatgactcccatCcgatccatttccctggcagg	8	10	8	15	1	1	1	1	1	0	0	5	2	5	1	5	2	0	1	5	2	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:81741330C>T	ENST00000550584.2	-	17	2509	c.2214G>A	c.(2212-2214)cgG>cgA	p.R738R	PPFIA2_ENST00000549325.1_Silent_p.R720R|PPFIA2_ENST00000548586.1_Silent_p.R738R|PPFIA2_ENST00000541570.2_Silent_p.R305R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000443686.3_Silent_p.R639R|PPFIA2_ENST00000549396.1_Silent_p.R738R|PPFIA2_ENST00000407050.4_Silent_p.R664R|PPFIA2_ENST00000550359.2_Silent_p.R585R|PPFIA2_ENST00000552948.1_Silent_p.R738R|PPFIA2_ENST00000333447.7_Silent_p.R720R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	664										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGACTCCCATCCGATCCATTT	0.498													41	171					0	0	0	0	T	81741330	C	T	81741330	2	4	341	1	0	0	0	0	0	0	0	1	12381	842	30	2		2	PPFIA2	12	81741330	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3157518	81741330	52110565	463	64344											
PPFIA2	8499	broad.mit.edu	37	chr12	82147851	82147851	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaggctttcctgggtctcCcgaagggtgtctagaagacg	8	9	15	9	2	2	3	0	0	2	3	4	5	3	3	2	3	0	1	2	3	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:82147851C>G	ENST00000550584.2	-	2	445	c.150G>C	c.(148-150)cgG>cgC	p.R50R	PPFIA2_ENST00000549325.1_Silent_p.R50R|PPFIA2_ENST00000548586.1_Silent_p.R50R|PPFIA2_ENST00000549396.1_Silent_p.R50R|PPFIA2_ENST00000552948.1_Silent_p.R50R|PPFIA2_ENST00000333447.7_Silent_p.R50R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	309										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCTGGGTCTCCCGAAGGGTGT	0.527													8	31					0	0	0	0	G	82147851	C	G	82147851	2	3	341	1	0	0	0	0	0	0	0	1	12381	610	22	4		4	PPFIA2	12	82147851	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	406521	82147851	51704044	464	64345											
MGAT4C	25834	broad.mit.edu	37	chr12	86374156	86374156	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgacttaattgtctcaagTaaatagtttcctttttttcg	10	20	5	6	1	1	1	1	1	1	0	4	1	2	1	1	0	0	2	1	0	5	9			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:86374156T>A	ENST00000604798.1	-	8	1552	c.348A>T	c.(346-348)ttA>ttT	p.L116F	MGAT4C_ENST00000332156.1_Missense_Mutation_p.L116F|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.L145F|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L116F|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L116F|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L116F			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	116					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTGTCTCAAGTAAATAGTTTC	0.358													22	64					0	0	0	0	A	86374156	T	A	86374156	3	1	341	1	0	0	0	0	1	0	0	0	9616	1635	57	5	1092	5	MGAT4C	12	86374156	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	4226305	86374156	47477739	465	64346											
C12orf50	160419	broad.mit.edu	37	chr12	88379699	88379699	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatgcgtgggcctgctgcGggaaggtgcattcaacgcga	7	7	15	12	4	1	0	1	0	0	0	1	2	1	1	2	3	5	2	2	3	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:88379699G>C	ENST00000298699.2	-	11	1234	c.1054C>G	c.(1054-1056)Cgc>Ggc	p.R352G	C12orf50_ENST00000550553.1_Missense_Mutation_p.R313G	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	352								p.R352S(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGCCTGCTGCGGGAAGGTGCA	0.483													34	147					0	0	0	0	C	88379699	G	C	88379699	3	2	341	1	0	0	0	0	1	0	0	0	1707	1116	39	3	202	3	C12orf50	12	88379699	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2005543	88379699	45472196	466	64347											
VEZT	55591	broad.mit.edu	37	chr12	95656712	95656712	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccgactcgactcattacatAccatcctgcaacaggaagtc	12	9	6	14	2	1	0	1	0	0	0	5	3	3	1	3	1	4	1	3	1	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:95656712A>G	ENST00000436874.1	+	4	394	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.T49A	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	97						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CTCATTACATACCATCCTGCA	0.408													35	134					0	0	0	0	G	95656712	A	G	95656712	3	3	341	1	0	0	0	0	1	0	0	0	17252	391	14	5	303	5	VEZT	12	95656712	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	7277013	95656712	38195183	467	64348											
CCDC38	120935	broad.mit.edu	37	chr12	96312657	96312657	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttaattaaactttaccgtTtcctttgctgccatttcatt	8	21	3	9	1	1	0	1	0	0	0	2	0	2	0	3	0	4	2	3	0	4	9			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:96312657T>A	ENST00000344280.3	-	3	692	c.135A>T	c.(133-135)gaA>gaT	p.E45D		NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	45										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTTACCGTTTCCTTTGCTG	0.368													23	75					0	0	0	0	A	96312657	T	A	96312657	3	1	341	1	0	0	0	0	1	0	0	0	2836	1838	64	5	1612	5	CCDC38	12	96312657	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	655945	96312657	37539238	468	64349											
SLC17A8	246213	broad.mit.edu	37	chr12	100811931	100811931	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtgcaatgaccaggcaCaaggtaaaggtctcctttgt	10	10	12	9	1	1	1	0	1	1	0	3	1	1	1	2	4	1	3	2	4	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:100811931C>A	ENST00000323346.5	+	11	1735	c.1422C>A	c.(1420-1422)caC>caA	p.H474Q	SLC17A8_ENST00000392989.3_Missense_Mutation_p.H424Q|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	474					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGACCAGGCACAAGGTAAAGG	0.498													30	116					3.1745e-13	4.16788e-13	1	0	A	100811931	C	A	100811931	3	1	341	1	0	0	0	0	1	0	0	0	14511	477	17	4	1464	4	SLC17A8	12	100811931	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	4499274	100811931	33039964	469	64350											
RFX4	5992	broad.mit.edu	37	chr12	107109260	107109260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtggacctgaacagcatcaCcaagcaaaccctttacacca	14	6	6	15	1	1	1	1	1	0	0	1	2	1	2	4	1	5	2	4	1	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:107109260C>A	ENST00000392842.1	+	11	1490	c.1076C>A	c.(1075-1077)aCc>aAc	p.T359N	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.T368N|RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000229387.5_Missense_Mutation_p.T265N	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	359	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AACAGCATCACCAAGCAAACC	0.483													6	51					0.000157383	0.00016875	1	0	A	107109260	C	A	107109260	3	1	341	1	0	0	0	0	1	0	0	0	13347	507	18	4	1291	4	RFX4	12	107109260	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	6297329	107109260	26742635	470	64351											
GIT2	9815	broad.mit.edu	37	chr12	110426817	110426817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtcatcccggcagggcaagCgatggacgaacgctaacatc	11	5	12	13	5	1	0	1	0	0	0	3	3	2	1	1	3	3	3	1	3	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:110426817C>T	ENST00000360185.4	-	4	520	c.356G>A	c.(355-357)cGc>cAc	p.R119H	GIT2_ENST00000355312.3_Missense_Mutation_p.R119H|GIT2_ENST00000361006.5_Missense_Mutation_p.R119H|GIT2_ENST00000551209.1_Missense_Mutation_p.R119H|GIT2_ENST00000547815.1_Missense_Mutation_p.R119H|GIT2_ENST00000356259.4_Missense_Mutation_p.R119H|GIT2_ENST00000338373.5_Missense_Mutation_p.R119H|GIT2_ENST00000354574.4_Missense_Mutation_p.R119H|GIT2_ENST00000457474.2_Missense_Mutation_p.R119H|GIT2_ENST00000343646.5_Missense_Mutation_p.R119H|GIT2_ENST00000320063.9_Missense_Mutation_p.R119H|GIT2_ENST00000553118.1_Missense_Mutation_p.R119H			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	119	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GCAGGGCAAGCGATGGACGAA	0.448													34	172					0	0	0	0	T	110426817	C	T	110426817	3	4	341	1	0	0	0	0	1	0	0	0	6448	768	27	1	2029	1	GIT2	12	110426817	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3317557	110426817	23425078	471	64352											
ERP29	10961	broad.mit.edu	37	chr12	112451279	112451279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacccggcgatatggctgccGctgtgccccgcgccgcattt	5	8	12	16	6	0	0	0	0	0	0	0	1	0	0	5	2	3	3	5	2	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:112451279G>A	ENST00000261735.3	+	1	160	c.10G>A	c.(10-12)Gct>Act	p.A4T	ERP29_ENST00000455836.1_Missense_Mutation_p.A4T	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	4					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TATGGCTGCCGCTGTGCCCCG	0.682													15	74					0	0	0	0	A	112451279	G	A	112451279	3	1	341	1	0	0	0	0	1	0	0	0	5280	1087	38	1	12	1	ERP29	12	112451279	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2024462	112451279	21400616	472	64353											
TRAFD1	10906	broad.mit.edu	37	chr12	112578644	112578644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgagtgccctttgcggCttgctgtctgccagcactgt	5	12	12	12	1	1	2	0	1	1	1	1	2	1	2	2	1	5	3	2	1	0	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:112578644C>T	ENST00000257604.5	+	5	876	c.259C>T	c.(259-261)Ctt>Ttt	p.L87F	TRAFD1_ENST00000412615.2_Missense_Mutation_p.L87F	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	87					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CCCTTTGCGGCTTGCTGTCTG	0.458													29	101					0	0	0	0	T	112578644	C	T	112578644	3	4	341	1	0	0	0	0	1	0	0	0	16542	797	28	4	273	4	TRAFD1	12	112578644	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	127365	112578644	21273251	473	64354											
OAS3	4940	broad.mit.edu	37	chr12	113405829	113405829	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcctgggagcagggcgggaAggactcccagttcaacatgg	9	6	16	10	1	1	0	1	0	0	0	2	3	2	3	2	5	3	2	2	5	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:113405829A>C	ENST00000228928.7	+	14	3133	c.2954A>C	c.(2953-2955)aAg>aCg	p.K985T	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	985	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CAGGGCGGGAAGGACTCCCAG	0.602													14	60					0	0	0	0	C	113405829	A	C	113405829	3	2	341	1	0	0	0	0	1	0	0	0	10872	72	3	5	3008	5	OAS3	12	113405829	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	827185	113405829	20446066	474	64355											
CABP1	9478	broad.mit.edu	37	chr12	121098997	121098997	+	Frame_Shift_Del	DEL	G	G	-																															tccgagatgtggacctcaatGgggatggacgagtggacttt																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:121098997delG	ENST00000453000.1	+	5	1383	c.871delG	c.(871-873)ggfs	p.G291fs	CABP1_ENST00000351200.2_Frame_Shift_Del_p.G152fs|CABP1_ENST00000316803.3_Frame_Shift_Del_p.G355fs|CABP1_ENST00000288616.3_Frame_Shift_Del_p.G212fs			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	355	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGACCTCAATGGGGATGGACG	0.532													14	74	---	---	---	---					-	121098997	G	-	121098997	7	5	341	1	0	1	0	1	0	0	0	0	2556	1348	47	0	1314	0	CABP1	12	121098997	Frame_Shift_Del	DEL	G	TCGA-CV-A461-01A-41D-A25Y-08	7693168	121098997	12752898	475	64356											
KNTC1	9735	broad.mit.edu	37	chr12	123057507	123057507	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattatcagaacacagaggaAgtatgtcagctaaggacttt	15	10	10	6	0	2	2	2	0	0	2	2	5	2	4	0	2	2	2	0	2	5	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:123057507A>T	ENST00000333479.7	+	25	2220	c.2043A>T	c.(2041-2043)gaA>gaT	p.E681D	KNTC1_ENST00000450485.2_Missense_Mutation_p.E644D	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	681					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACACAGAGGAAGTATGTCAGC	0.323													3	16					0	0	0	0	T	123057507	A	T	123057507	3	4	341	1	0	0	0	0	1	0	0	0	8480	69	3	5	2137	5	KNTC1	12	123057507	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	1958510	123057507	10794388	476	64357											
DNAH10	196385	broad.mit.edu	37	chr12	124377897	124377897	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgtggcagtacttcgTgaacaaaagtgcaaataacc	13	10	10	8	1	1	1	0	1	1	0	2	1	1	1	1	1	4	3	1	1	6	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:124377897T>G	ENST00000409039.3	+	52	8784	c.8759T>G	c.(8758-8760)gTg>gGg	p.V2920G		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2920	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTACTTCGTGAACAAAAGT	0.542													27	85					0	0	0	0	G	124377897	T	G	124377897	3	3	341	1	0	0	0	0	1	0	0	0	4635	1696	59	5	8965	5	DNAH10	12	124377897	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	1320390	124377897	9473998	477	64358											
DNAH10	196385	broad.mit.edu	37	chr12	124418025	124418025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cacaagtgaccaagttccagGatgcagatgaagtgaatgag	15	7	12	7	0	0	5	0	4	0	1	1	6	1	6	2	1	1	2	2	1	4	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:124418025G>C	ENST00000409039.3	+	76	13115	c.13090G>C	c.(13090-13092)Gat>Cat	p.D4364H	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4364					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAGTTCCAGGATGCAGATGA	0.587													12	92					0	0	0	0	C	124418025	G	C	124418025	3	2	341	1	0	0	0	0	1	0	0	0	4635	1174	41	2	13392	2	DNAH10	12	124418025	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	40128	124418025	9433870	478	64359											
TMEM132B	114795	broad.mit.edu	37	chr12	126128737	126128737	+	Missense_Mutation	SNP	G	G	T																															ccagttcgaggtcactgtctGggcacccaggctccccctgc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:126128737G>T	ENST00000299308.3	+	6	1546	c.1538G>T	c.(1537-1539)tGg>tTg	p.W513L	TMEM132B_ENST00000535886.1_Missense_Mutation_p.W25L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	513						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTCACTGTCTGGGCACCCAGG	0.537													12	62					4.3838e-07	5.05119e-07	1	0	T	126128737	G	T	126128737	3	4	341	1	0	0	0	0	1	0	0	0	16140	1357	47	4	1560	4	TMEM132B	12	126128737	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1710712	126128737	7723158	479	64360	770	2									
TMEM132B	114795	broad.mit.edu	37	chr12	126128738	126128738	+	Missense_Mutation	SNP	G	G	T																															cagttcgaggtcactgtctgGgcacccaggctccccctgca																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:126128738G>T	ENST00000299308.3	+	6	1547	c.1539G>T	c.(1537-1539)tgG>tgT	p.W513C	TMEM132B_ENST00000535886.1_Missense_Mutation_p.W25C	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	513						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCACTGTCTGGGCACCCAGGC	0.532													12	61					4.3838e-07	5.05119e-07	1	0	T	126128738	G	T	126128738	3	4	341	1	0	0	0	0	1	0	0	0	16140	1241	43	4	1561	4	TMEM132B	12	126128738	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1	126128738	7723157	480	64361	770	2									
EP400	57634	broad.mit.edu	37	chr12	132527956	132527956	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagactctgagaacatgccGtgtgatgaagaaccatccca	13	8	9	11	1	2	5	1	3	1	3	3	6	3	5	3	0	3	0	3	0	3	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr12:132527956G>C	ENST00000333577.4	+	34	6532	c.6423G>C	c.(6421-6423)ccG>ccC	p.P2141P	EP400_ENST00000332482.4_Silent_p.P2068P|EP400_ENST00000389562.2_Silent_p.P2104P|EP400_ENST00000330386.6_Silent_p.P2024P|EP400_ENST00000389561.2_Silent_p.P2105P			Q96L91	EP400_HUMAN	E1A binding protein p400	2141					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAACATGCCGTGTGATGAAG	0.473													10	72					0	0	0	0	C	132527956	G	C	132527956	2	2	341	1	0	0	0	0	0	0	0	1	5187	1132	40	3		3	EP400	12	132527956	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	6399218	132527956	1323939	481	64362											
PABPC3	5042	broad.mit.edu	37	chr13	25670484	25670484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagggacttgatcaccagcGgctcctccaactacgcgtat	9	8	10	14	3	1	1	1	1	0	0	3	2	3	2	3	2	3	3	3	2	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr13:25670484G>T	ENST00000281589.3	+	1	185	c.148G>T	c.(148-150)Ggc>Tgc	p.G50C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	50	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GATCACCAGCGGCTCCTCCAA	0.567													16	59					2.31682e-05	2.56245e-05	1	0	T	25670484	G	T	25670484	3	4	341	1	0	0	0	0	1	0	0	0	11436	1116	39	3	150	3	PABPC3	13	25670484	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08		25670484	89499394	482	64363											
FLT1	2321	broad.mit.edu	37	chr13	28877368	28877368	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcggggagcagcacgcgAttttcctttccagctcagcg	6	8	15	12	4	1	0	1	0	0	0	3	2	3	1	2	4	4	3	2	4	0	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr13:28877368A>G	ENST00000282397.4	-	30	4204	c.3953T>C	c.(3952-3954)aTc>aCc	p.I1318T	FLT1_ENST00000540678.1_Missense_Mutation_p.I536T|FLT1_ENST00000543394.1_Missense_Mutation_p.I341T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1318					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCAGCACGCGATTTTCCTTTC	0.562													28	54					0	0	0	0	G	28877368	A	G	28877368	3	3	341	1	0	0	0	0	1	0	0	0	5986	333	12	5	67	5	FLT1	13	28877368	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	3206884	28877368	86292510	483	64364											
STARD13	90627	broad.mit.edu	37	chr13	33703645	33703645	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcaccaccaaattctctTgggagtgaaattcatgcata	13	12	7	9	0	2	1	1	1	1	0	3	2	2	2	2	1	2	2	2	1	4	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr13:33703645T>A	ENST00000336934.5	-	5	1285	c.1169A>T	c.(1168-1170)cAa>cTa	p.Q390L	STARD13_ENST00000255486.4_Missense_Mutation_p.Q382L|STARD13_ENST00000399365.3_Missense_Mutation_p.Q272L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	390					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CAAATTCTCTTGGGAGTGAAA	0.522													30	58					0	0	0	0	A	33703645	T	A	33703645	3	1	341	1	0	0	0	0	1	0	0	0	15346	1812	63	5	2212	5	STARD13	13	33703645	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	4826277	33703645	81466233	484	64365											
CCNA1	8900	broad.mit.edu	37	chr13	37011780	37011780	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaggggatcacaagaatCaggtgttattctggatcaga	12	13	11	5	0	4	2	3	0	1	2	4	4	4	4	0	4	0	1	0	4	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr13:37011780C>A	ENST00000418263.1	+	3	659	c.309C>A	c.(307-309)atC>atA	p.I103I	CCNA1_ENST00000440264.1_Silent_p.I60I|CCNA1_ENST00000255465.4_Silent_p.I104I|CCNA1_ENST00000449823.1_Silent_p.I60I|CCNA1_ENST00000463403.1_3'UTR	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	104					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCACAAGAATCAGGTGTTATT	0.478													29	104					2.65835e-16	3.65168e-16	1	0	A	37011780	C	A	37011780	2	1	341	1	0	0	0	0	0	0	0	1	2938	816	29	2		2	CCNA1	13	37011780	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3308135	37011780	78158098	485	64366											
UFM1	51569	broad.mit.edu	37	chr13	38924169	38924169	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaagatcacgctgacgtcGgacccacggctgccgtacaa	10	8	10	13	5	1	2	1	1	0	1	2	3	1	3	2	2	2	3	2	2	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr13:38924169G>T	ENST00000239878.4	+	2	75	c.36G>T	c.(34-36)tcG>tcT	p.S12S	UFM1_ENST00000379649.1_5'UTR	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	12				S -> W (in Ref. 7; CAA94181).	protein ufmylation	cytoplasm|nucleus	protein binding			lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		CGCTGACGTCGGACCCACGGC	0.587													26	85					1.32003e-05	1.46628e-05	1	0	T	38924169	G	T	38924169	2	4	341	1	0	0	0	0	0	0	0	1	17032	1103	39	3		3	UFM1	13	38924169	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1912389	38924169	76245709	486	64367											
SIAH3	283514	broad.mit.edu	37	chr13	46425705	46425705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccgtttagccttgtagtgCtgaaaccggagatgaatgag	11	10	12	8	2	0	4	0	3	0	1	0	5	0	4	3	1	3	3	3	1	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr13:46425705C>G	ENST00000400405.2	-	1	166	c.60G>C	c.(58-60)caG>caC	p.Q20H		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	20					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CCTTGTAGTGCTGAAACCGGA	0.502													26	52					0	0	0	0	G	46425705	C	G	46425705	3	3	341	1	0	0	0	0	1	0	0	0	14389	796	28	4	757	4	SIAH3	13	46425705	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	7501536	46425705	68744173	487	64368											
CPB2	1361	broad.mit.edu	37	chr13	46679070	46679070	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctaagattctattgggttaCctctgaaacgcgaagacatg	12	12	9	8	2	3	3	0	1	3	2	3	4	3	3	1	1	2	1	1	1	5	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr13:46679070C>T	ENST00000181383.4	-	1	91		c.e1+1		CPB2_ENST00000439329.3_Splice_Site|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)						blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TATTGGGTTACCTCTGAAACG	0.468													14	30					0	0	0	0	T	46679070	C	T	46679070	5	4	341	1	0	0	0	0	0	0	1	0	3827	521	18	4	1240	4	CPB2	13	46679070	Splice_Site	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	253365	46679070	68490808	488	64369											
NALCN	259232	broad.mit.edu	37	chr13	102047708	102047708	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagatgcgcagcaaagaGtgaacccactgcaatgatgg	14	5	12	10	1	0	4	0	2	0	2	0	4	0	4	1	1	4	4	1	1	3	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr13:102047708G>A	ENST00000251127.6	-	3	198	c.117C>T	c.(115-117)caC>caT	p.H39H	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Silent_p.H39H|NALCN_ENST00000376196.3_Silent_p.H39H	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	39						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAGCAAAGAGTGAACCCACT	0.428													12	39					0	0	0	0	A	102047708	G	A	102047708	2	1	341	1	0	0	0	0	0	0	0	1	10218	1020	36	4		4	NALCN	13	102047708	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	55368638	102047708	13122170	489	64370											
ARGLU1	55082	broad.mit.edu	37	chr13	107196398	107196398	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggacttccccttgccCaggataattttttgttcttc	5	16	8	12	0	1	0	0	0	1	0	3	2	2	2	4	3	1	1	4	3	1	8			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr13:107196398C>A	ENST00000400198.3	-	4	1012	c.768G>T	c.(766-768)ctG>ctT	p.L256L	ARGLU1_ENST00000375926.1_Silent_p.L125L|ARGLU1_ENST00000472226.1_5'UTR	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	256										large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCCCTTGCCCAGGATAATtt	0.348													23	44					1.87028e-06	2.1202e-06	1	0	A	107196398	C	A	107196398	2	1	341	1	0	0	0	0	0	0	0	1	862	581	21	4		4	ARGLU1	13	107196398	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	5148690	107196398	7973480	490	64371											
POTEG	404785	broad.mit.edu	37	chr14	19553564	19553564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcacttctggagaccacGacgattctgctatgaagaca	11	9	11	10	2	2	3	0	1	2	2	2	6	2	3	1	2	1	2	1	2	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:19553564G>T	ENST00000409832.3	+	1	200	c.148G>T	c.(148-150)Gac>Tac	p.D50Y		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	50										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGAGACCACGACGATTCTGC	0.607													55	539					1.53716e-24	2.29533e-24	1	0	T	19553564	G	T	19553564	3	4	341	1	0	0	0	0	1	0	0	0	12338	1058	37	3	150	3	POTEG	14	19553564	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08		19553564	87795976	491	64372											
OR4L1	122742	broad.mit.edu	37	chr14	20529093	20529093	+	Frame_Shift_Del	DEL	C	C	-																															aaataagaaaatgcaagaggCcataagaaaattacggttcc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:20529093delC	ENST00000315683.1	+	1	890	c.890delC	c.(889-891)gcfs	p.A297fs		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATGCAAGAGGCCATAAGAAAA	0.323													45	111	---	---	---	---					-	20529093	C	-	20529093	7	5	341	1	0	1	0	1	0	0	0	0	11145	739	26	0	892	0	OR4L1	14	20529093	Frame_Shift_Del	DEL	C	TCGA-CV-A461-01A-41D-A25Y-08	975529	20529093	86820447	492	64373											
TGM1	7051	broad.mit.edu	37	chr14	24723870	24723870	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcaaactgcattcacCgtgagggagaggtctggggt	9	7	14	11	1	2	2	1	1	1	1	2	3	2	2	3	4	3	2	3	4	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:24723870C>G	ENST00000206765.6	-	13	2211	c.2088_splice	c.e13+1	p.T696_splice	TGM1_ENST00000544573.1_Splice_Site_p.T254_splice	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	696					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTGCATTCACCGTGAGGGAGA	0.627													15	69					0	0	0	0	G	24723870	C	G	24723870	5	3	341	1	0	0	0	0	0	0	1	0	15923	666	23	3	377	3	TGM1	14	24723870	Splice_Site	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	4194777	24723870	82625670	493	64374											
CMA1	1215	broad.mit.edu	37	chr14	24975365	24975365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcagagtgtctgagcccgGcttcaacacacctgttcttc	7	12	9	13	1	3	2	1	1	2	1	4	2	3	2	2	1	3	3	2	1	1	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:24975365G>T	ENST00000250378.3	-	4	498	c.469C>A	c.(469-471)Ccg>Acg	p.P157T	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.P46T	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	157	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TCTGAGCCCGGCTTCAACACA	0.577													7	46					0.248553	0.248875	1	0	T	24975365	G	T	24975365	3	4	341	1	0	0	0	0	1	0	0	0	3604	1203	42	4	282	4	CMA1	14	24975365	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	251495	24975365	82374175	494	64375											
PRKD1	5587	broad.mit.edu	37	chr14	30100047	30100047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctggccacatctgcacCaacgccactggtgagaacac	11	6	8	16	1	1	1	0	1	1	1	2	2	2	1	4	2	3	1	4	2	2	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:30100047C>A	ENST00000331968.5	-	10	1802	c.1573G>T	c.(1573-1575)Ggt>Tgt	p.G525C	PRKD1_ENST00000415220.2_Missense_Mutation_p.G533C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	525	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACATCTGCACCAACGCCACTG	0.507													44	110					7.63091e-17	1.05954e-16	1	0	A	30100047	C	A	30100047	3	1	341	1	0	0	0	0	1	0	0	0	12598	594	21	4	1201	4	PRKD1	14	30100047	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	5124682	30100047	77249493	495	64376											
ARHGAP5	394	broad.mit.edu	37	chr14	32562840	32562840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgatgacacagaagcaccaCctccttatagtccaattggg	13	9	8	11	0	0	3	0	2	0	1	2	3	2	3	4	1	1	1	4	1	4	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:32562840C>T	ENST00000345122.3	+	2	3280	c.2965C>T	c.(2965-2967)Cct>Tct	p.P989S	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.P989S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.P989S|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.P989S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	989					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGAAGCACCACCTCCTTATAG	0.408													36	149					0	0	0	0	T	32562840	C	T	32562840	3	4	341	1	0	0	0	0	1	0	0	0	888	507	18	4	2967	4	ARHGAP5	14	32562840	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2462793	32562840	74786700	496	64377											
RPL10L	140801	broad.mit.edu	37	chr14	47120850	47120850	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaggtcaaagatgcggatCttggcatcaggaacccctcg	10	7	11	13	2	3	1	2	0	1	1	4	3	3	3	3	4	2	1	3	4	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:47120850C>G	ENST00000298283.3	-	1	178	c.90G>C	c.(88-90)aaG>aaC	p.K30N		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	30					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AGATGCGGATCTTGGCATCAG	0.527													27	114					0	0	0	0	G	47120850	C	G	47120850	3	3	341	1	0	0	0	0	1	0	0	0	13641	912	32	2	558	2	RPL10L	14	47120850	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	14558010	47120850	60228690	497	64378											
PYGL	5836	broad.mit.edu	37	chr14	51387764	51387764	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccgggcacgggggtgtCatatggcagagccaggacca	9	5	17	10	2	1	1	1	0	0	1	1	2	1	2	3	5	2	3	3	5	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:51387764C>A	ENST00000216392.7	-	6	1014	c.682G>T	c.(682-684)Gac>Tac	p.D228Y	PYGL_ENST00000532462.1_Missense_Mutation_p.D228Y|PYGL_ENST00000544180.2_Missense_Mutation_p.D194Y	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	228					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACGGGGGTGTCATATGGCAGA	0.527													11	68					7.03913e-09	8.46449e-09	1	0	A	51387764	C	A	51387764	3	1	341	1	0	0	0	0	1	0	0	0	12943	826	29	2	1921	2	PYGL	14	51387764	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	4266914	51387764	55961776	498	64379											
TRIM9	114088	broad.mit.edu	37	chr14	51489654	51489654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgggccaccagacaggCttcaaactccacactgttct	11	9	7	14	0	2	1	1	0	1	1	3	1	3	1	3	2	1	2	3	2	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:51489654C>T	ENST00000298355.3	-	3	2061	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	TRIM9_ENST00000360392.4_Missense_Mutation_p.A314T|TRIM9_ENST00000338969.5_Missense_Mutation_p.A314T	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	314				A -> V (in Ref. 2; BAB70913).	proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ACCAGACAGGCTTCAAACTCC	0.547													33	80					0	0	0	0	T	51489654	C	T	51489654	3	4	341	1	0	0	0	0	1	0	0	0	16644	797	28	4	1274	4	TRIM9	14	51489654	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	101890	51489654	55859886	499	64380											
PLEKHG3	26030	broad.mit.edu	37	chr14	65209721	65209721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagaggaagccggtgctgtCtctatttgactatgagcagc	10	11	12	8	1	1	3	0	2	1	1	2	4	1	4	1	2	4	2	1	2	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:65209721C>G	ENST00000247226.7	+	15	3100	c.2792C>G	c.(2791-2793)tCt>tGt	p.S931C	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S492C|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S520C|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S987C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	987					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCGGTGCTGTCTCTATTTGAC	0.602													39	149					0	0	0	0	G	65209721	C	G	65209721	3	3	341	1	0	0	0	0	1	0	0	0	12142	913	32	2	2846	2	PLEKHG3	14	65209721	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	13720067	65209721	42139819	500	64381											
ZFYVE26	23503	broad.mit.edu	37	chr14	68271955	68271955	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgctgtatgcaccacTccaggacctccaggtgagcc	7	9	10	15	0	1	1	0	1	1	0	3	2	3	2	5	2	4	4	5	2	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:68271955T>G	ENST00000347230.4	-	8	1388	c.1250A>C	c.(1249-1251)gAg>gCg	p.E417A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E417A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	417					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TATGCACCACTCCAGGACCTC	0.587													11	35					0	0	0	0	G	68271955	T	G	68271955	3	3	341	1	0	0	0	0	1	0	0	0	17763	1551	54	5	6509	5	ZFYVE26	14	68271955	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	3062234	68271955	39077585	501	64382											
ADAM21	8747	broad.mit.edu	37	chr14	70925127	70925127	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcataaaaaattcacttaTaagtatacttggcctagcct	14	14	5	8	0	2	0	2	0	0	0	2	0	2	0	2	1	2	2	2	1	8	9			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:70925127T>C	ENST00000603540.1	+	2	1169	c.911T>C	c.(910-912)aTa>aCa	p.I304T	ADAM21_ENST00000267499.3_Missense_Mutation_p.I304T|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	304	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AATTCACTTATAAGTATACTT	0.393													64	195					0	0	0	0	C	70925127	T	C	70925127	3	2	341	1	0	0	0	0	1	0	0	0	243	1406	49	5	913	5	ADAM21	14	70925127	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	2653172	70925127	36424413	502	64383											
FLRT2	23768	broad.mit.edu	37	chr14	86088738	86088738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactgcggatgctgactcaaGgggtttttgataatctctcc	9	13	10	9	1	2	2	1	2	1	0	4	3	3	3	1	3	3	2	1	3	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:86088738G>T	ENST00000330753.4	+	2	1647	c.880G>T	c.(880-882)Ggg>Tgg	p.G294W	FLRT2_ENST00000554746.1_Missense_Mutation_p.G294W	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	294					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)		GCTGACTCAAGGGGTTTTTGA	0.453													61	248					3.76628e-20	5.4551e-20	1	0	T	86088738	G	T	86088738	3	4	341	1	0	0	0	0	1	0	0	0	5984	1000	35	4	882	4	FLRT2	14	86088738	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	15163611	86088738	21260802	503	64384											
TRIP11	9321	broad.mit.edu	37	chr14	92472410	92472410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaggtatccttaaaattaCtattagagtcttgatttaga	14	16	7	4	0	1	3	0	1	1	2	2	3	2	3	1	1	1	2	1	1	8	9			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:92472410C>T	ENST00000267622.4	-	11	2283	c.1910G>A	c.(1909-1911)aGt>aAt	p.S637N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	637					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTAAAATTACTATTAGAGTC	0.299			T	PDGFRB	AML								15	77					0	0	0	0	T	92472410	C	T	92472410	3	4	341	1	0	0	0	0	1	0	0	0	16650	565	20	4	4073	4	TRIP11	14	92472410	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	6383672	92472410	14877130	504	64385											
SERPINA12	145264	broad.mit.edu	37	chr14	94964667	94964667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattccttggtgagaagctcGgctttagaagacctttcacc	10	12	9	10	1	1	3	1	1	0	3	3	4	2	3	3	2	1	2	3	2	4	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:94964667G>T	ENST00000341228.2	-	3	863	c.68C>A	c.(67-69)cCg>cAg	p.P23Q	SERPINA12_ENST00000556881.1_Missense_Mutation_p.P23Q	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	23					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TGAGAAGCTCGGCTTTAGAAG	0.483													33	116					6.04164e-23	8.9523e-23	1	0	T	94964667	G	T	94964667	3	4	341	1	0	0	0	0	1	0	0	0	14176	1116	39	3	1192	3	SERPINA12	14	94964667	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2492257	94964667	12384873	505	64386											
SERPINA5	5104	broad.mit.edu	37	chr14	95054204	95054204	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagggactctgcaggggccAtgaagcagatcaatgattat	12	10	12	7	0	2	3	1	2	1	1	2	4	2	4	1	3	2	2	1	3	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:95054204A>T	ENST00000329597.7	+	3	715	c.505A>T	c.(505-507)Atg>Ttg	p.M169L	SERPINA5_ENST00000554276.1_Missense_Mutation_p.M169L|SERPINA5_ENST00000553780.1_Missense_Mutation_p.M169L|SERPINA5_ENST00000554866.1_Missense_Mutation_p.M169L	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	169					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGCAGGGGCCATGAAGCAGAT	0.498													31	92					0	0	0	0	T	95054204	A	T	95054204	3	4	341	1	0	0	0	0	1	0	0	0	14179	217	8	5	507	5	SERPINA5	14	95054204	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	89537	95054204	12295336	506	64387											
CYP46A1	10858	broad.mit.edu	37	chr14	100173021	100173021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaaacattcaacgagaagGctgagcagctggtggagatt	13	8	14	6	1	1	3	1	1	0	2	1	6	1	4	0	4	4	3	0	4	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:100173021G>T	ENST00000554176.1	+	1	688	c.22G>T	c.(22-24)Gct>Tct	p.A8S	CYP46A1_ENST00000261835.3_Missense_Mutation_p.A161S|CYP46A1_ENST00000423126.2_Missense_Mutation_p.A64S			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	161					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CAACGAGAAGGCTGAGCAGCT	0.552													28	67					1.04121e-07	1.21975e-07	1	0	T	100173021	G	T	100173021	3	4	341	1	0	0	0	0	1	0	0	0	4214	1203	42	4	503	4	CYP46A1	14	100173021	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	5118817	100173021	7176519	507	64388											
BAG5	9529	broad.mit.edu	37	chr14	104028376	104028376	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggatgtcctggaggccaCggagggaaggcggcccgagc	7	3	20	11	4	0	0	0	0	0	0	1	5	1	4	3	8	1	0	3	8	1	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:104028376C>T	ENST00000337322.4	-	0	259				BAG5_ENST00000445922.2_Intron|BAG5_ENST00000299204.4_Intron	NM_001015049.2	NP_001015049.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5						apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CTGGAGGCCACGGAGGGAAGG	0.572													13	42					0	0	0	0	T	104028376	C	T	104028376	1	4	341	1	0	0	0	0	0	0	0	0	1294	551	19	1		1	BAG5	14	104028376	Translation_Start_Site	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3855355	104028376	3321164	508	64389											
ADSSL1	122622	broad.mit.edu	37	chr14	105204721	105204721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctctcatgcaggcaacgggGtggtcatccacttgccaggc	7	9	12	13	1	3	0	2	0	1	0	5	0	4	0	2	5	3	2	2	5	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr14:105204721G>A	ENST00000332972.5	+	3	592	c.433G>A	c.(433-435)Gtg>Atg	p.V145M	ADSSL1_ENST00000330877.2_Missense_Mutation_p.V102M	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	102					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	AGGCAACGGGGTGGTCATCCA	0.527													9	56					0	0	0	0	A	105204721	G	A	105204721	3	1	341	1	0	0	0	0	1	0	0	0	348	1261	44	4	639	4	ADSSL1	14	105204721	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1176345	105204721	2144819	509	64390											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32928536	32928536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaaattaccggatgtcttGgacaggacctaataattcaa	16	10	7	8	1	2	0	1	0	1	0	2	3	2	3	2	3	2	0	2	3	6	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:32928536G>T	ENST00000361627.3	+	12	2284	c.1562G>T	c.(1561-1563)tGg>tTg	p.W521L	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.W332L|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.W332L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	521					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CGGATGTCTTGGACAGGACCT	0.383													26	100					4.26978e-12	5.46645e-12	1	0	T	32928536	G	T	32928536	3	4	341	1	0	0	0	0	1	0	0	0	865	1357	47	4	1631	4	ARHGAP11A	15	32928536	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08		32928536	69602856	510	64391											
AVEN	57099	broad.mit.edu	37	chr15	34295412	34295412	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgctgtcatcttcaaccTgcaatcattagagacaaatc	13	11	5	12	1	4	1	3	0	1	1	6	2	4	1	1	0	2	2	1	0	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:34295412T>A	ENST00000306730.3	-	2	397		c.e2-2		CHRM5_ENST00000383263.5_Intron	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor						anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		ATCTTCAACCTGCAATCATTA	0.363													10	38					0	0	0	0	A	34295412	T	A	34295412	5	1	341	1	0	0	0	0	0	0	1	0	1230	1594	55	5	842	5	AVEN	15	34295412	Splice_Site	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	1366876	34295412	68235980	511	64392											
VPS39	23339	broad.mit.edu	37	chr15	42476799	42476799	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtaccacggtgagatcatCctggcccacagccacttttc	9	9	9	14	1	1	1	1	1	0	1	3	3	2	1	4	2	2	1	4	2	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:42476799C>A	ENST00000318006.5	-	8	796	c.634G>T	c.(634-636)Gat>Tat	p.D212Y	VPS39_ENST00000348544.4_Missense_Mutation_p.D223Y	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	223	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GTGAGATCATCCTGGCCCACA	0.532													45	200					2.68985e-26	4.06373e-26	1	0	A	42476799	C	A	42476799	3	1	341	1	0	0	0	0	1	0	0	0	17305	855	30	2	2065	2	VPS39	15	42476799	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	8181387	42476799	60054593	512	64393											
EPB42	2038	broad.mit.edu	37	chr15	43508523	43508523	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaatgcacggactggagCgcggaagtacaggatgatgg	13	5	16	7	3	0	2	0	1	0	1	0	6	0	6	0	5	3	2	0	5	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:43508523C>G	ENST00000300215.3	-	2	686	c.229G>C	c.(229-231)Gct>Cct	p.A77P	EPB42_ENST00000441366.2_Missense_Mutation_p.A47P|EPB42_ENST00000540029.1_Missense_Mutation_p.A47P			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	47					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CGGACTGGAGCGCGGAAGTAC	0.602													15	52					0	0	0	0	G	43508523	C	G	43508523	3	3	341	1	0	0	0	0	1	0	0	0	5196	768	27	3	1984	3	EPB42	15	43508523	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1031724	43508523	59022869	513	64394											
DUOX2	50506	broad.mit.edu	37	chr15	45388052	45388052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtatccagcacagccattgcCctttggggatgagtagatct	9	11	11	10	0	1	2	0	1	1	1	2	3	2	3	3	2	3	3	3	2	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:45388052C>T	ENST00000389039.6	-	30	4439	c.4054G>A	c.(4054-4056)Ggc>Agc	p.G1352S	DUOX2_ENST00000603300.1_Missense_Mutation_p.G1352S			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1352	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGCCATTGCCCTTTGGGGAT	0.627													18	61					0	0	0	0	T	45388052	C	T	45388052	3	4	341	1	0	0	0	0	1	0	0	0	4837	623	22	4	612	4	DUOX2	15	45388052	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1879529	45388052	57143340	514	64395											
GALK2	2585	broad.mit.edu	37	chr15	49531541	49531541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttggtgacgctcacaGtgctgggaaggaatctatcc	8	10	13	10	1	2	1	1	1	1	0	3	3	3	3	1	4	1	3	1	4	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:49531541G>T	ENST00000327171.3	+	5	680	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	GALK2_ENST00000396509.2_Missense_Mutation_p.V137L|GALK2_ENST00000544523.1_Missense_Mutation_p.V137L|GALK2_ENST00000543495.1_Missense_Mutation_p.V32L|GALK2_ENST00000560031.1_Missense_Mutation_p.V161L|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000559454.1_Missense_Mutation_p.V137L	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	161					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GACGCTCACAGTGCTGGGAAG	0.468													10	55					1.58986e-06	1.80496e-06	1	0	T	49531541	G	T	49531541	3	4	341	1	0	0	0	0	1	0	0	0	6253	1029	36	4	523	4	GALK2	15	49531541	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	4143489	49531541	52999851	515	64396											
AP4E1	23431	broad.mit.edu	37	chr15	51285690	51285690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctcaagagagtataatGgagaatgtagatcaagctat	15	11	10	5	0	2	3	2	0	0	3	3	5	3	3	1	1	1	4	1	1	7	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:51285690G>A	ENST00000261842.5	+	17	2320	c.2214G>A	c.(2212-2214)atG>atA	p.M738I	AP4E1_ENST00000560508.1_Missense_Mutation_p.M663I	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	738					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGAGTATAATGGAGAATGTAG	0.393													17	81					0	0	0	0	A	51285690	G	A	51285690	3	1	341	1	0	0	0	0	1	0	0	0	753	1348	47	4	2280	4	AP4E1	15	51285690	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1754149	51285690	51245702	516	64397											
ALDH1A2	8854	broad.mit.edu	37	chr15	58284929	58284929	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctgtgaatgcaatctTgtctatgccaatgtgagaag	12	11	10	8	0	2	3	0	2	2	2	2	4	2	3	2	0	2	1	2	0	5	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:58284929T>G	ENST00000249750.4	-	7	1539	c.772A>C	c.(772-774)Aag>Cag	p.K258Q	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.K237Q|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.K162Q|ALDH1A2_ENST00000347587.3_Intron|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.K229Q	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	258					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	AATGCAATCTTGTCTATGCCA	0.458													20	74					0	0	0	0	G	58284929	T	G	58284929	3	3	341	1	0	0	0	0	1	0	0	0	491	1821	63	5	812	5	ALDH1A2	15	58284929	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	6999239	58284929	44246463	517	64398											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499845	59499845	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccattctgaaagctgccatGgatggatcctcggagagcat	10	10	11	10	1	1	2	0	1	1	1	4	5	3	4	3	3	3	2	3	3	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:59499845G>T	ENST00000307144.4	+	1	804	c.706G>T	c.(706-708)Gga>Tga	p.G236*	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	236					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	AAGCTGCCATGGATGGATCCT	0.458													24	102					2.39556e-15	3.23884e-15	1	0	T	59499845	G	T	59499845	4	4	341	1	0	0	0	0	0	1	0	0	8753	1349	47	4	708	4	LDHAL6B	15	59499845	Nonsense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1214916	59499845	43031547	518	64399											
ANP32A	8125	broad.mit.edu	37	chr15	69080142	69080142	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttaactttggtaagtttgcGattgaggtgaggcctacgtt	8	16	12	5	2	0	2	0	2	0	0	0	3	0	2	1	3	3	3	1	3	3	8			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:69080142G>C	ENST00000465139.2	-	2	314	c.171C>G	c.(169-171)atC>atG	p.I57M	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Missense_Mutation_p.I57M	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	57					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						GTAAGTTTGCGATTGAGGTGA	0.458													35	114					0	0	0	0	C	69080142	G	C	69080142	3	2	341	1	0	0	0	0	1	0	0	0	704	1048	37	3	602	3	ANP32A	15	69080142	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	9580297	69080142	33451250	519	64400											
ADAMTS7	11173	broad.mit.edu	37	chr15	79089016	79089016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcagctactaccagggtCtccacccacttctctttgct	7	12	6	16	0	3	0	1	0	2	0	5	0	3	0	3	1	4	3	3	1	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:79089016C>A	ENST00000388820.4	-	4	945	c.735G>T	c.(733-735)gaG>gaT	p.E245D	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	245	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTACCAGGGTCTCCACCCACT	0.607													35	119					1.45844e-13	1.92793e-13	1	0	A	79089016	C	A	79089016	3	1	341	1	0	0	0	0	1	0	0	0	271	912	32	2	4409	2	ADAMTS7	15	79089016	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	10008874	79089016	23442376	520	64401											
AKAP13	11214	broad.mit.edu	37	chr15	86259038	86259038	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacagcccaaggagcgTcctcggtccgcagtcctcct	6	7	10	18	3	1	0	1	0	0	0	6	1	5	1	6	2	2	1	6	2	1	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:86259038T>C	ENST00000394518.2	+	20	5714	c.5619T>C	c.(5617-5619)cgT>cgC	p.R1873R	AKAP13_ENST00000361243.2_Silent_p.R1877R|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Silent_p.R118R	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1873					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCAAGGAGCGTCCTCGGTCCG	0.532													18	79					0	0	0	0	C	86259038	T	C	86259038	2	2	341	1	0	0	0	0	0	0	0	1	449	1654	58	5		5	AKAP13	15	86259038	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	7170022	86259038	16272354	521	64402											
NTRK3	4916	broad.mit.edu	37	chr15	88678435	88678435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgttgtagtgggtgggCttgttgaagagcaggcagcc	7	11	16	7	0	0	2	0	1	0	1	0	2	0	2	2	3	2	6	2	3	2	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:88678435C>A	ENST00000394480.1	-	10	1422	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	NTRK3_ENST00000360948.2_Missense_Mutation_p.K367N|NTRK3_ENST00000317501.3_Missense_Mutation_p.K367N|NTRK3_ENST00000540489.2_Missense_Mutation_p.K367N|NTRK3_ENST00000558676.1_Missense_Mutation_p.K367N|NTRK3_ENST00000357724.2_Missense_Mutation_p.K367N|NTRK3_ENST00000557856.1_Missense_Mutation_p.K367N|NTRK3_ENST00000542733.2_Missense_Mutation_p.K269N|NTRK3_ENST00000355254.2_Missense_Mutation_p.K367N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	367	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGTGGGTGGGCTTGTTGAAGA	0.537			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			28	102					1.5548e-18	2.21459e-18	1	0	A	88678435	C	A	88678435	3	1	341	1	0	0	0	0	1	0	0	0	10779	796	28	4	1724	4	NTRK3	15	88678435	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2419397	88678435	13852957	522	64403											
MRPL46	26589	broad.mit.edu	37	chr15	89002885	89002885	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctaacttgggccaggtattTtggtttcaaatagtcaccca	10	13	8	10	0	2	0	2	0	0	0	2	0	2	0	3	3	1	2	3	3	4	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:89002885T>C	ENST00000312475.4	-	4	840	c.799A>G	c.(799-801)Aaa>Gaa	p.K267E	MRPL46_ENST00000559538.1_5'UTR	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	267						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCCAGGTATTTTGGTTTCAAA	0.502													24	81					0	0	0	0	C	89002885	T	C	89002885	3	2	341	1	0	0	0	0	1	0	0	0	9880	1850	64	5	44	5	MRPL46	15	89002885	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	324450	89002885	13528507	523	64404											
HAPLN3	145864	broad.mit.edu	37	chr15	89430511	89430511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagcaggagcaacgggaCcaggagcaacaggcccatct	12	2	15	12	1	1	0	0	0	1	0	1	3	1	3	2	5	5	4	2	5	2	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:89430511C>A	ENST00000359595.3	-	2	233	c.19G>T	c.(19-21)Gtc>Ttc	p.V7F	HAPLN3_ENST00000562889.1_Missense_Mutation_p.V69F	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	7					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGCAACGGGACCAGGAGCAAC	0.607													11	40					0.00136819	0.00142543	1	0	A	89430511	C	A	89430511	3	1	341	1	0	0	0	0	1	0	0	0	7006	507	18	4	1079	4	HAPLN3	15	89430511	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	427626	89430511	13100881	524	64405											
LRRK1	79705	broad.mit.edu	37	chr15	101554519	101554519	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctccctctctctctcAggccctcatgttcttgaggt	3	15	6	17	0	6	1	2	1	4	0	10	1	7	1	3	2	0	1	3	2	0	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr15:101554519A>C	ENST00000284395.5	+	12	1810		c.e12-1		LRRK1_ENST00000388948.3_Splice_Site			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1						small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTCTCTCTCAGGCCCTCATG	0.547													23	131					0	0	0	0	C	101554519	A	C	101554519	5	2	341	1	0	0	0	0	0	0	1	0	9096	202	7	5	1456	5	LRRK1	15	101554519	Splice_Site	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	12124008	101554519	976873	525	64406											
WDR90	197335	broad.mit.edu	37	chr16	703414	703414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgtcctgctcgtggacaCgggggagcagcgcttcttcc	4	9	14	14	5	1	0	0	0	1	0	5	2	3	2	2	3	3	3	2	3	0	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:703414C>T	ENST00000549091.1	+	11	1288	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M	WDR90_ENST00000293879.4_Missense_Mutation_p.T399M	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	399										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTCGTGGACACGGGGGAGCAG	0.697													31	54					0	0	0	0	T	703414	C	T	703414	3	4	341	1	0	0	0	0	1	0	0	0	17433	536	19	1	1238	1	WDR90	16	703414	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08		703414	89651339	526	64407											
UBN1	29855	broad.mit.edu	37	chr16	4925363	4925363	+	Silent	SNP	G	G	T																															agtggtgggacccagggagtGgcaaagttgctgacctcgcc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:4925363G>T	ENST00000396658.4	+	14	3655	c.2952G>T	c.(2950-2952)gtG>gtT	p.V984V	UBN1_ENST00000262376.6_Silent_p.V984V|UBN1_ENST00000545171.1_Silent_p.V984V|UBN1_ENST00000590769.1_Silent_p.V984V	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	984	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCCAGGGAGTGGCAAAGTTGC	0.542													63	92					3.56336e-21	5.21007e-21	1	0	T	4925363	G	T	4925363	2	4	341	1	0	0	0	0	0	0	0	1	16988	1335	47	4		4	UBN1	16	4925363	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	4221949	4925363	85429390	527	64408	771	2									
UBN1	29855	broad.mit.edu	37	chr16	4925364	4925364	+	Missense_Mutation	SNP	G	G	T																															gtggtgggacccagggagtgGcaaagttgctgacctcgccg																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:4925364G>T	ENST00000396658.4	+	14	3656	c.2953G>T	c.(2953-2955)Gca>Tca	p.A985S	UBN1_ENST00000262376.6_Missense_Mutation_p.A985S|UBN1_ENST00000545171.1_Missense_Mutation_p.A985S|UBN1_ENST00000590769.1_Missense_Mutation_p.A985S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	985	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCAGGGAGTGGCAAAGTTGCT	0.542													66	93					8.52622e-23	1.26097e-22	1	0	T	4925364	G	T	4925364	3	4	341	1	0	0	0	0	1	0	0	0	16988	1203	42	4	3007	4	UBN1	16	4925364	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1	4925364	85429389	528	64409	771	2									
PPL	5493	broad.mit.edu	37	chr16	4941824	4941824	+	Silent	SNP	C	C	G																															agactcaccgccagctcctgCcccttgctgtccaggacacg																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:4941824C>G	ENST00000345988.2	-	16	2045	c.1956G>C	c.(1954-1956)ggG>ggC	p.G652G	PPL_ENST00000590782.2_Silent_p.G650G	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	652					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCAGCTCCTGCCCCTTGCTGT	0.602													56	136					0	0	0	0	G	4941824	C	G	4941824	2	3	341	1	0	0	0	0	0	0	0	1	12410	726	26	4		4	PPL	16	4941824	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	16460	4941824	85412929	529	64410	772	2									
PPL	5493	broad.mit.edu	37	chr16	4941826	4941826	+	Missense_Mutation	SNP	C	C	A																															actcaccgccagctcctgccCcttgctgtccaggacacggc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:4941826C>A	ENST00000345988.2	-	16	2043	c.1954G>T	c.(1954-1956)Ggg>Tgg	p.G652W	PPL_ENST00000590782.2_Missense_Mutation_p.G650W	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	652					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCTCCTGCCCCTTGCTGTCC	0.602													55	136					2.01807e-28	3.07288e-28	1	0	A	4941826	C	A	4941826	3	1	341	1	0	0	0	0	1	0	0	0	12410	623	22	4	3344	4	PPL	16	4941826	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2	4941826	85412927	530	64411	772	2									
MKL2	57496	broad.mit.edu	37	chr16	14312814	14312814	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccaagtgagccaaaagttAgtgaatcgccatctcctgtg	11	9	9	12	1	1	2	0	2	1	0	3	2	1	2	5	0	1	1	5	0	5	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:14312814A>C	ENST00000571589.1	+	8	824	c.652A>C	c.(652-654)Agt>Cgt	p.S218R	MKL2_ENST00000341243.5_Missense_Mutation_p.S207R|MKL2_ENST00000573051.1_Missense_Mutation_p.S167R|MKL2_ENST00000572567.1_Missense_Mutation_p.S207R|MKL2_ENST00000574045.1_Missense_Mutation_p.S218R|MKL2_ENST00000318282.5_Missense_Mutation_p.S218R	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	207					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCAAAAGTTAGTGAATCGCC	0.463													14	75					0	0	0	0	C	14312814	A	C	14312814	3	2	341	1	0	0	0	0	1	0	0	0	9671	420	15	5	674	5	MKL2	16	14312814	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	9370988	14312814	76041939	531	64412											
ABCC1	4363	broad.mit.edu	37	chr16	16196534	16196534	+	Frame_Shift_Del	DEL	G	G	-																															aagcaaagcaaatggagaatGgcatgctggtgacggacagt																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:16196534delG	ENST00000399408.2	+	21	2900	c.2725delG	c.(2725-2727)gcfs	p.G909fs	ABCC1_ENST00000576557.1_3'UTR|ABCC1_ENST00000346370.5_Frame_Shift_Del_p.G843fs|ABCC1_ENST00000349029.5_Frame_Shift_Del_p.G784fs|ABCC1_ENST00000345148.5_Frame_Shift_Del_p.G899fs|ABCC1_ENST00000351154.5_Frame_Shift_Del_p.G840fs|ABCC1_ENST00000399410.3_Frame_Shift_Del_p.G899fs			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	899					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)	AATGGAGAATGGCATGCTGGT	0.597													7	6	---	---	---	---					-	16196534	G	-	16196534	7	5	341	1	0	1	0	1	0	0	0	0	49	1348	47	0	2773	0	ABCC1	16	16196534	Frame_Shift_Del	DEL	G	TCGA-CV-A461-01A-41D-A25Y-08	1883720	16196534	74158219	532	64413											
ACSM2B	348158	broad.mit.edu	37	chr16	20576070	20576070	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctggtggccccactgcAgggacaccagttgcctacta	7	9	10	15	0	0	0	0	0	0	0	1	1	1	1	5	3	3	2	5	3	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:20576070A>T	ENST00000329697.6	-	2	266	c.98T>A	c.(97-99)cTg>cAg	p.L33Q	ACSM2B_ENST00000565232.1_Missense_Mutation_p.L33Q|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000414188.2_Missense_Mutation_p.L33Q|ACSM2B_ENST00000567001.1_Missense_Mutation_p.L33Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	33					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCCCCACTGCAGGGACACCAG	0.517													9	50					0	0	0	0	T	20576070	A	T	20576070	3	4	341	1	0	0	0	0	1	0	0	0	184	188	7	5	1687	5	ACSM2B	16	20576070	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	4379536	20576070	69778683	533	64414											
DNAH3	55567	broad.mit.edu	37	chr16	21073917	21073917	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttggcaattccttcaaaGcacttcttcaagtgcggctg	9	12	9	11	1	3	0	2	0	1	0	4	0	4	0	1	2	3	4	1	2	3	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:21073917G>T	ENST00000261383.3	-	25	3605	c.3606C>A	c.(3604-3606)tgC>tgA	p.C1202*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.C1202*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1202	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCCTTCAAAGCACTTCTTCA	0.433													32	136					1.88708e-17	2.64878e-17	1	0	T	21073917	G	T	21073917	4	4	341	1	0	0	0	0	0	1	0	0	4640	963	34	4	8895	4	DNAH3	16	21073917	Nonsense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	497847	21073917	69280836	534	64415											
CHP2	63928	broad.mit.edu	37	chr16	23767242	23767242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aattatagaaagcttcttccCcgatgggtgaggcttgctgg	9	12	12	8	1	1	2	0	1	1	1	2	3	2	2	2	3	2	3	2	3	4	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:23767242C>A	ENST00000300113.2	+	3	638	c.215C>A	c.(214-216)cCc>cAc	p.P72H		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	72	EF-hand 2.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		AGCTTCTTCCCCGATGGGTGA	0.587													36	71					3.76114e-14	5.01485e-14	1	0	A	23767242	C	A	23767242	3	1	341	1	0	0	0	0	1	0	0	0	3396	623	22	4	225	4	CHP2	16	23767242	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2693325	23767242	66587511	535	64416											
LONP2	83752	broad.mit.edu	37	chr16	48337193	48337193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaggaagccaagttggaccGttctgatgtgactgagagag	12	9	14	6	1	1	4	0	3	1	1	1	7	1	6	2	2	1	2	2	2	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:48337193G>T	ENST00000285737.4	+	11	1865	c.1772G>T	c.(1771-1773)cGt>cTt	p.R591L	LONP2_ENST00000535754.1_Missense_Mutation_p.R547L	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	591					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAGTTGGACCGTTCTGATGTG	0.542													52	76					5.13769e-22	7.56926e-22	1	0	T	48337193	G	T	48337193	3	4	341	1	0	0	0	0	1	0	0	0	8957	1145	40	3	1814	3	LONP2	16	48337193	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	24569951	48337193	42017560	536	64417											
SALL1	6299	broad.mit.edu	37	chr16	51172863	51172863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaacatgcacgaagccGttgacctctgtcttgatgag	11	9	12	9	2	2	4	0	3	2	1	2	6	2	4	2	1	3	2	2	1	2	2	rs143637930		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:51172863G>C	ENST00000440970.1	-	2	3410	c.2979C>G	c.(2977-2979)aaC>aaG	p.N993K	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.N1090K	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1090					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCACGAAGCCGTTGACCTCTG	0.567													37	46					0	0	0	0	C	51172863	G	C	51172863	3	2	341	1	0	0	0	0	1	0	0	0	13895	1136	40	3	712	3	SALL1	16	51172863	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2835670	51172863	39181890	537	64418											
SALL1	6299	broad.mit.edu	37	chr16	51172930	51172930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgctgagttctgattggggCcaaggttggaactgggctca	7	10	15	9	1	2	2	1	2	1	0	2	3	2	3	2	5	1	4	2	5	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:51172930C>T	ENST00000440970.1	-	2	3343	c.2912G>A	c.(2911-2913)gGc>gAc	p.G971D	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G1068D	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1068					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTGATTGGGGCCAAGGTTGGA	0.502													31	27					0	0	0	0	T	51172930	C	T	51172930	3	4	341	1	0	0	0	0	1	0	0	0	13895	739	26	4	779	4	SALL1	16	51172930	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	67	51172930	39181823	538	64419											
MMP15	4324	broad.mit.edu	37	chr16	58072217	58072217	+	Frame_Shift_Del	DEL	G	G	-																															gccagaccagttcggggtacGagtgaaagccaacctgcggc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:58072217delG	ENST00000219271.3	+	3	1144	c.359delG	c.(358-360)cafs	p.R120fs		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	120					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	p.R120L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TTCGGGGTACGAGTGAAAGCC	0.652													67	99	---	---	---	---					-	58072217	G	-	58072217	7	5	341	1	0	1	0	1	0	0	0	0	9723	1058	37	0	369	0	MMP15	16	58072217	Frame_Shift_Del	DEL	G	TCGA-CV-A461-01A-41D-A25Y-08	6899287	58072217	32282536	539	64420											
PLCG2	5336	broad.mit.edu	37	chr16	81925123	81925123	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacagcatctgggatgagaAgtatgacgcggtggacatgc	13	7	14	7	2	1	2	0	2	1	1	1	5	1	4	0	3	3	2	0	3	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:81925123A>C	ENST00000359376.3	+	11	1128	c.914A>C	c.(913-915)aAg>aCg	p.K305T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	305					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGGGATGAGAAGTATGACGCG	0.488													13	23					0	0	0	0	C	81925123	A	C	81925123	3	2	341	1	0	0	0	0	1	0	0	0	12108	72	3	5	952	5	PLCG2	16	81925123	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	23852906	81925123	8429630	540	64421											
CPNE7	27132	broad.mit.edu	37	chr16	89662999	89662999	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcctgggtgtccctgcCggagaggccagcccaggctg	7	5	16	13	1	0	2	0	0	0	2	1	3	1	2	5	4	3	1	5	4	1	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr16:89662999C>A	ENST00000268720.5	+	17	2002	c.1872C>A	c.(1870-1872)gcC>gcA	p.A624A	CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Silent_p.A549A	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	624					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GTGTCCCTGCCGGAGAGGCCA	0.662													28	32					2.12542e-12	2.74844e-12	1	0	A	89662999	C	A	89662999	2	1	341	1	0	0	0	0	0	0	0	1	3847	639	23	3		3	CPNE7	16	89662999	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	7737876	89662999	691754	541	64422											
SCARF1	8578	broad.mit.edu	37	chr17	1540343	1540343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctggacacggtagctcCatctctcgctggcctgaggg	6	9	12	14	2	1	1	0	1	1	0	5	2	3	2	3	4	1	3	3	4	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:1540343C>T	ENST00000263071.4	-	9	1427	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	SCARF1_ENST00000348987.3_Missense_Mutation_p.G374R|SCARF1_ENST00000571272.1_Missense_Mutation_p.G460R	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	460					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACGGTAGCTCCATCTCTCGCT	0.632													21	74					0	0	0	0	T	1540343	C	T	1540343	3	4	341	1	0	0	0	0	1	0	0	0	13969	603	21	4	1126	4	SCARF1	17	1540343	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08		1540343	79654867	542	64423											
SMG6	23293	broad.mit.edu	37	chr17	2202737	2202737	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagatcccttactaccagatCcaaacaaaagccgaggtccc	14	6	7	14	1	0	2	0	0	0	2	3	4	3	2	5	1	4	0	5	1	5	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:2202737C>G	ENST00000544865.1	-	2	1727	c.1217G>C	c.(1216-1218)gGa>gCa	p.G406A	SMG6_ENST00000263073.5_Missense_Mutation_p.G437A			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	437	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	p.G437V(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACTACCAGATCCAAACAAAAG	0.542													57	192					0	0	0	0	G	2202737	C	G	2202737	3	3	341	1	0	0	0	0	1	0	0	0	14885	855	30	2	3021	2	SMG6	17	2202737	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	662394	2202737	78992473	543	64424											
NLRP1	22861	broad.mit.edu	37	chr17	5433956	5433956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcaatctcaacggtcaccGcttctctcatcacaaagcag	12	10	5	14	2	6	0	5	0	2	0	8	0	6	0	1	1	2	2	1	1	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:5433956G>A	ENST00000345221.3	-	12	3919	c.3365C>T	c.(3364-3366)gCg>gTg	p.A1122V	NLRP1_ENST00000269280.4_Missense_Mutation_p.A1122V|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.A1092V|NLRP1_ENST00000262467.5_Missense_Mutation_p.A1126V|NLRP1_ENST00000572272.1_Missense_Mutation_p.A1122V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A1092V	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1122					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AACGGTCACCGCTTCTCTCAT	0.557													35	77					0	0	0	0	A	5433956	G	A	5433956	3	1	341	1	0	0	0	0	1	0	0	0	10541	1087	38	1	1143	1	NLRP1	17	5433956	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	3231219	5433956	75761254	544	64425											
EIF4A1	1973	broad.mit.edu	37	chr17	7480724	7480724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgaccaagaagttcatgagGgaccccattcggattcttgt	10	11	11	9	1	2	3	1	2	1	1	3	5	2	5	3	2	0	1	3	2	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:7480724G>T	ENST00000293831.8	+	7	703	c.687G>T	c.(685-687)agG>agT	p.R229S	EIF4A1_ENST00000577269.1_Missense_Mutation_p.R229S|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.R229S	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	229	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AGTTCATGAGGGACCCCATTC	0.517													15	85					0.000308642	0.000326399	1	0	T	7480724	G	T	7480724	3	4	341	1	0	0	0	0	1	0	0	0	5062	1223	43	4	713	4	EIF4A1	17	7480724	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2046768	7480724	73714486	545	64426											
EIF4A1	1973	broad.mit.edu	37	chr17	7480740	7480740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagggaccccattcggattCttgtcaagaaggaagagttg	11	10	13	7	1	2	3	1	1	1	2	3	6	2	6	2	3	0	1	2	3	3	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:7480740C>T	ENST00000293831.8	+	7	719	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F	EIF4A1_ENST00000577269.1_Missense_Mutation_p.L235F|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.L235F	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	235					nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CATTCGGATTCTTGTCAAGAA	0.532													14	79					0	0	0	0	T	7480740	C	T	7480740	3	4	341	1	0	0	0	0	1	0	0	0	5062	913	32	2	729	2	EIF4A1	17	7480740	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	16	7480740	73714470	546	64427											
SAT2	112483	broad.mit.edu	37	chr17	7529792	7529792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccaactttctcgttgcCtctccttgaaagcagaagaa	10	11	7	13	1	2	3	0	1	2	2	4	3	2	3	4	0	4	2	4	0	4	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:7529792C>G	ENST00000269298.5	-	6	705	c.486G>C	c.(484-486)gaG>gaC	p.E162D	SAT2_ENST00000573566.1_Missense_Mutation_p.E128D|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576478.1_Intron|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000570547.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	162	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	TTCTCGTTGCCTCTCCTTGAA	0.537													31	104					0	0	0	0	G	7529792	C	G	7529792	3	3	341	1	0	0	0	0	1	0	0	0	13938	680	24	4	30	4	SAT2	17	7529792	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	49052	7529792	73665418	547	64428											
TP53	7157	broad.mit.edu	37	chr17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaggaactgttacacatgTagttgtagtggatggtggta	10	13	14	4	0	0	0	0	0	0	0	0	2	0	2	0	4	3	6	0	4	5	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTACACATGTAGTTGTAGTG	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	42					0	0	0	0	C	7577574	T	C	7577574	3	2	341	1	0	0	0	0	1	0	0	0	16476	1638	57	5	583	5	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	47782	7577574	73617636	548	64429											
ODF4	146852	broad.mit.edu	37	chr17	8248781	8248781	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggttggctggtgcttatccTatacttcacctgcggtgagt	5	15	12	9	1	1	1	1	1	0	0	2	1	2	1	2	4	3	3	2	4	3	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:8248781T>C	ENST00000328248.2	+	2	763	c.575T>C	c.(574-576)cTa>cCa	p.L192P	ODF4_ENST00000584943.1_Missense_Mutation_p.L77P	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	192					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GTGCTTATCCTATACTTCACC	0.537													41	178					0	0	0	0	C	8248781	T	C	8248781	3	2	341	1	0	0	0	0	1	0	0	0	10904	1522	53	5	581	5	ODF4	17	8248781	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	671207	8248781	72946429	549	64430											
ZNF18	7566	broad.mit.edu	37	chr17	11894356	11894356	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaagctccccaggccctgagGatgaattctcaagtcccaac	11	7	9	14	0	1	2	1	2	1	0	4	4	3	3	4	2	2	1	4	2	4	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:11894356G>C	ENST00000322748.3	-	5	1116	c.512C>G	c.(511-513)tCc>tGc	p.S171C	ZNF18_ENST00000454073.3_Missense_Mutation_p.S171C|ZNF18_ENST00000580613.1_Missense_Mutation_p.S120C|ZNF18_ENST00000580306.1_Missense_Mutation_p.S171C	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	171					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGGCCCTGAGGATGAATTCTC	0.522													72	338					0	0	0	0	C	11894356	G	C	11894356	3	2	341	1	0	0	0	0	1	0	0	0	17842	1174	41	2	1157	2	ZNF18	17	11894356	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	3645575	11894356	69300854	550	64431											
COX10	1352	broad.mit.edu	37	chr17	14110158	14110158	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaggaatcctctactcCtggcagtttcctcatttcaa	8	13	8	12	0	3	0	2	0	1	0	6	2	6	2	3	3	1	2	3	3	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:14110158C>A	ENST00000261643.3	+	7	1037	c.960C>A	c.(958-960)tcC>tcA	p.S320S	COX10_ENST00000536205.1_Silent_p.S128S|COX10_ENST00000537334.1_Silent_p.S103S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	320					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TCCTCTACTCCTGGCAGTTTC	0.587													25	103					5.45024e-15	7.35592e-15	1	0	A	14110158	C	A	14110158	2	1	341	1	0	0	0	0	0	0	0	1	3792	668	24	4		4	COX10	17	14110158	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2215802	14110158	67085052	551	64432											
ZNF287	57336	broad.mit.edu	37	chr17	16455957	16455957	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttttctccagtatgaactCtctgatgattaatcagtgat	10	17	7	7	0	3	4	1	4	2	0	5	4	3	4	1	0	1	2	1	0	3	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:16455957C>G	ENST00000395824.1	-	6	2116	c.1499G>C	c.(1498-1500)aGa>aCa	p.R500T	ZNF287_ENST00000395825.3_Missense_Mutation_p.R500T			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	493					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		AGTATGAACTCTCTGATGATT	0.373													48	160					0	0	0	0	G	16455957	C	G	16455957	3	3	341	1	0	0	0	0	1	0	0	0	17920	913	32	2	790	2	ZNF287	17	16455957	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2345799	16455957	64739253	552	64433											
FLCN	201163	broad.mit.edu	37	chr17	17127250	17127250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attcaccttgagcgccttgcCctggagctcatcgatgattc	7	12	9	13	2	2	2	2	2	0	0	4	4	2	3	3	1	3	1	3	1	0	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:17127250C>T	ENST00000285071.4	-	6	1058	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.G202S	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	202					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCGCCTTGCCCTGGAGCTCA	0.612									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				9	47					0	0	0	0	T	17127250	C	T	17127250	3	4	341	1	0	0	0	0	1	0	0	0	5966	623	22	4	1329	4	FLCN	17	17127250	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	671293	17127250	64067960	553	64434											
PHF12	57649	broad.mit.edu	37	chr17	27244340	27244340	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgactggagcacacgcCggttaggggggtgcttcttg	6	9	16	10	3	1	1	0	1	1	0	1	3	1	2	2	5	2	3	2	5	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:27244340C>A	ENST00000577226.1	-	7	1443	c.1097G>T	c.(1096-1098)cGg>cTg	p.R366L	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Missense_Mutation_p.R366L|PHF12_ENST00000268756.3_Missense_Mutation_p.R366L			Q96QT6	PHF12_HUMAN	PHD finger protein 12	366	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GAGCACACGCCGGTTAGGGGG	0.527													18	100					4.63292e-17	6.47938e-17	1	0	A	27244340	C	A	27244340	3	1	341	1	0	0	0	0	1	0	0	0	11895	652	23	3	1979	3	PHF12	17	27244340	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	10117090	27244340	53950870	554	64435											
MYO18A	399687	broad.mit.edu	37	chr17	27434126	27434126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catccaccacgatgtagttaCgcccgtgtttcttggtcagg	7	12	10	12	3	2	0	1	0	1	0	3	1	3	0	3	2	1	3	3	2	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:27434126C>G	ENST00000527372.1	-	20	3593	c.3413G>C	c.(3412-3414)cGt>cCt	p.R1138P	MYO18A_ENST00000531253.1_Missense_Mutation_p.R1138P|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1138P|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1138P	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1138	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GATGTAGTTACGCCCGTGTTT	0.602													17	77					0	0	0	0	G	27434126	C	G	27434126	3	3	341	1	0	0	0	0	1	0	0	0	10135	536	19	3	2843	3	MYO18A	17	27434126	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	189786	27434126	53761084	555	64436											
TMEM132E	124842	broad.mit.edu	37	chr17	32962097	32962097	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggactggagccaggcaccacCccctttaaggtaggtatggg	9	7	14	11	0	0	0	0	0	0	0	0	2	0	2	4	6	1	3	4	6	3	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:32962097C>G	ENST00000321639.5	+	8	2026	c.1698C>G	c.(1696-1698)acC>acG	p.T566T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	566						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CAGGCACCACCCCCTTTAAGG	0.582													3	18					0	0	0	0	G	32962097	C	G	32962097	2	3	341	1	0	0	0	0	0	0	0	1	16142	610	22	4		4	TMEM132E	17	32962097	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	5527971	32962097	48233113	556	64437											
SLFN12	55106	broad.mit.edu	37	chr17	33738761	33738761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtcctgggaaatcagaaGagcatcacagaggactttgt	13	9	11	8	0	2	3	2	0	0	3	3	5	3	5	1	2	1	1	1	2	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:33738761G>A	ENST00000394562.1	-	6	1856	c.1333C>T	c.(1333-1335)Ctt>Ttt	p.L445F	SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Missense_Mutation_p.L445F|SLFN12_ENST00000304905.5_Missense_Mutation_p.L445F			Q8IYM2	SLN12_HUMAN	schlafen family member 12	445							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAATCAGAAGAGCATCACAG	0.468													26	154					0	0	0	0	A	33738761	G	A	33738761	3	1	341	1	0	0	0	0	1	0	0	0	14822	942	33	2	407	2	SLFN12	17	33738761	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	776664	33738761	47456449	557	64438											
GPR179	440435	broad.mit.edu	37	chr17	36489266	36489266	+	Silent	SNP	C	C	T																															atctcctcccggggaggagcCcccagcttccagaactggca																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:36489266C>T	ENST00000342292.4	-	10	1925	c.1905G>A	c.(1903-1905)ggG>ggA	p.G635G		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	635						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGGAGGAGCCCCCAGCTTCC	0.622													9	43					0	0	0	0	T	36489266	C	T	36489266	2	4	341	1	0	0	0	0	0	0	0	1	6723	610	22	4		4	GPR179	17	36489266	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2750505	36489266	44705944	558	64439	773	3									
GPR179	440435	broad.mit.edu	37	chr17	36489267	36489267	+	Missense_Mutation	SNP	C	C	T																															tctcctcccggggaggagccCccagcttccagaactggcag																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:36489267C>T	ENST00000342292.4	-	10	1924	c.1904G>A	c.(1903-1905)gGg>gAg	p.G635E		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	635						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGAGGAGCCCCCAGCTTCCA	0.622													9	43					0	0	0	0	T	36489267	C	T	36489267	3	4	341	1	0	0	0	0	1	0	0	0	6723	623	22	4	5207	4	GPR179	17	36489267	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1	36489267	44705943	559	64440	773	3									
GPR179	440435	broad.mit.edu	37	chr17	36489268	36489268	+	Missense_Mutation	SNP	C	C	T																															ctcctcccggggaggagcccCcagcttccagaactggcagg																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:36489268C>T	ENST00000342292.4	-	10	1923	c.1903G>A	c.(1903-1905)Ggg>Agg	p.G635R		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	635						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGAGGAGCCCCCAGCTTCCAG	0.617													9	43					0	0	0	0	T	36489268	C	T	36489268	3	4	341	1	0	0	0	0	1	0	0	0	6723	623	22	4	5208	4	GPR179	17	36489268	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1	36489268	44705942	560	64441	773	3									
ACLY	47	broad.mit.edu	37	chr17	40058022	40058022	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaagattgtgacttcgtgCtccttcagggggccctggta	8	11	12	10	1	1	2	1	1	0	1	3	2	2	2	2	3	1	2	2	3	2	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:40058022C>T	ENST00000352035.2	-	11	1240	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	ACLY_ENST00000590151.1_Silent_p.E370E|ACLY_ENST00000393896.2_Silent_p.E370E|ACLY_ENST00000537919.1_Silent_p.E109E|ACLY_ENST00000353196.1_Silent_p.E370E	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	370					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGACTTCGTGCTCCTTCAGGG	0.517													43	149					0	0	0	0	T	40058022	C	T	40058022	2	4	341	1	0	0	0	0	0	0	0	1	143	796	28	4		4	ACLY	17	40058022	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3568754	40058022	41137188	561	64442											
HSF5	124535	broad.mit.edu	37	chr17	56540660	56540660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataggaggactgcattgaaGgattctgggaaaagaaaaaa	18	7	13	3	0	1	2	0	1	1	1	1	7	1	6	0	4	1	1	0	4	7	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:56540660G>A	ENST00000323777.3	-	4	1134	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	342						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCATTGAAGGATTCTGGGA	0.358													23	96					0	0	0	0	A	56540660	G	A	56540660	3	1	341	1	0	0	0	0	1	0	0	0	7449	1000	35	4	777	4	HSF5	17	56540660	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	16482638	56540660	24654550	562	64443											
NACA2	342538	broad.mit.edu	37	chr17	59668082	59668082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtctgtgtgttttcttGaatgtttccgacagcttcac	6	17	10	8	1	3	1	1	1	2	0	4	3	4	2	1	1	1	3	1	1	1	5	rs76240935		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:59668082G>T	ENST00000521764.1	-	1	481	c.460C>A	c.(460-462)Caa>Aaa	p.Q154K		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	154					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					GTGTTTTCTTGAATGTTTCCG	0.433													71	284					5.80444e-35	8.94416e-35	1	0	T	59668082	G	T	59668082	3	4	341	1	0	0	0	0	1	0	0	0	10204	1299	45	2	191	2	NACA2	17	59668082	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	3127422	59668082	21527128	563	64444											
STRADA	92335	broad.mit.edu	37	chr17	61791372	61791372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgcacatacctatcaCagtgagcagctcgtaacacc	11	7	7	16	1	1	1	1	1	0	0	2	1	1	1	4	0	5	4	4	0	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:61791372C>A	ENST00000245865.5	-	4	255	c.46G>T	c.(46-48)Gtg>Ttg	p.V16L	STRADA_ENST00000579340.1_Missense_Mutation_p.V16L|STRADA_ENST00000582137.1_Missense_Mutation_p.V45L|STRADA_ENST00000336174.6_Missense_Mutation_p.V74L|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000447001.3_Intron|STRADA_ENST00000580039.1_Intron|STRADA_ENST00000392950.4_Missense_Mutation_p.V37L|STRADA_ENST00000375840.4_Missense_Mutation_p.V16L			Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	74					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						ATACCTATCACAGTGAGCAGC	0.537													27	86					3.73988e-18	5.2976e-18	1	0	A	61791372	C	A	61791372	3	1	341	1	0	0	0	0	1	0	0	0	15414	478	17	4	1169	4	STRADA	17	61791372	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2123290	61791372	19403838	564	64445											
KPNA2	3838	broad.mit.edu	37	chr17	66040031	66040031	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgattgatgcaggagcActcgccgtctttcccagcct	6	12	11	12	2	1	2	0	2	1	0	3	3	2	3	3	1	3	3	3	1	0	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:66040031A>G	ENST00000537025.2	+	8	1628	c.1008A>G	c.(1006-1008)gcA>gcG	p.A336A	KPNA2_ENST00000330459.3_Silent_p.A336A			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	336	NLS binding site (minor) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGCAGGAGCACTCGCCGTCT	0.478													41	179					0	0	0	0	G	66040031	A	G	66040031	2	3	341	1	0	0	0	0	0	0	0	1	8482	146	6	5		5	KPNA2	17	66040031	Silent	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	4248659	66040031	15155179	565	64446											
SLC16A6	9120	broad.mit.edu	37	chr17	66267770	66267770	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggctgtatctccagccAatgcgctccttcagagccat	9	9	10	13	1	2	1	1	0	1	1	4	2	3	2	4	2	3	3	4	2	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:66267770A>C	ENST00000327268.4	-	6	695	c.531T>G	c.(529-531)atT>atG	p.I177M	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.I177M	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	177						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	ATCTCCAGCCAATGCGCTCCT	0.473													13	60					0	0	0	0	C	66267770	A	C	66267770	3	2	341	1	0	0	0	0	1	0	0	0	14500	126	5	5	1048	5	SLC16A6	17	66267770	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	227739	66267770	14927440	566	64447											
ABCA9	10350	broad.mit.edu	37	chr17	67023953	67023953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgattatagacagtgactGaacctgaaagcagaaggcag	15	8	12	6	0	0	6	0	4	0	2	0	6	0	6	1	1	2	2	1	1	5	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:67023953G>A	ENST00000340001.4	-	13	1830	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	ABCA9_ENST00000370732.2_Missense_Mutation_p.S540L|ABCA9_ENST00000453985.2_Missense_Mutation_p.S540L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	540	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GACAGTGACTGAACCTGAAAG	0.353													16	66					0	0	0	0	A	67023953	G	A	67023953	3	1	341	1	0	0	0	0	1	0	0	0	39	1294	45	2	3363	2	ABCA9	17	67023953	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	756183	67023953	14171257	567	64448											
SLC26A11	284129	broad.mit.edu	37	chr17	78196510	78196510	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatttcttcctgggcacctcCcgggatgtgactctgggccc	4	12	11	14	1	2	1	0	1	2	0	4	2	4	2	4	3	0	1	4	3	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:78196510C>G	ENST00000361193.3	+	4	571	c.291C>G	c.(289-291)tcC>tcG	p.S97S	SLC26A11_ENST00000572725.1_Silent_p.S97S|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000411502.3_Silent_p.S97S|SLC26A11_ENST00000546047.2_Silent_p.S97S	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	97						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGGCACCTCCCGGGATGTGA	0.617													44	170					0	0	0	0	G	78196510	C	G	78196510	2	3	341	1	0	0	0	0	0	0	0	1	14604	610	22	4		4	SLC26A11	17	78196510	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	11172557	78196510	2998700	568	64449											
DUS1L	64118	broad.mit.edu	37	chr17	80021368	80021368	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctttggagcaggtcccactCgtcctgcagaaaggcgccat	8	9	11	13	2	1	1	0	0	1	1	4	2	3	2	3	3	2	2	3	3	1	1	rs76779621	by1000genomes	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr17:80021368C>G	ENST00000354321.7	-	3	858	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	DUS1L_ENST00000306796.5_Missense_Mutation_p.E125Q			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	125					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGGTCCCACTCGTCCTGCAGA	0.602													40	185					0	0	0	0	G	80021368	C	G	80021368	3	3	341	1	0	0	0	0	1	0	0	0	4841	893	31	3	1092	3	DUS1L	17	80021368	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1824858	80021368	1173842	569	64450											
ARHGAP28	79822	broad.mit.edu	37	chr18	6851075	6851075	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactaatcagctggatggcAccaaggaagaaagagagctt	16	6	11	8	0	1	2	1	0	0	2	1	5	1	4	1	3	2	3	1	3	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr18:6851075A>C	ENST00000419673.2	+	3	326	c.109A>C	c.(109-111)Acc>Ccc	p.T37P	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.T196P|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.T37P|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.T37P|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.T196P|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.T19P|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.T144P|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.T37P	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GCTGGATGGCACCAAGGAAGA	0.453													49	59					0	0	0	0	C	6851075	A	C	6851075	3	2	341	1	0	0	0	0	1	0	0	0	879	159	6	5	115	5	ARHGAP28	18	6851075	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08		6851075	71226173	570	64451											
LAMA1	284217	broad.mit.edu	37	chr18	6976041	6976041	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaatctgaggctggtaggcCcggatgcaatctctgtctgc	8	10	13	10	1	3	1	0	1	3	0	4	3	3	2	1	4	2	3	1	4	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr18:6976041C>T	ENST00000389658.3	-	45	6477	c.6384G>A	c.(6382-6384)cgG>cgA	p.R2128R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2128	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGGTAGGCCCGGATGCAAT	0.468													123	117					0	0	0	0	T	6976041	C	T	6976041	2	4	341	1	0	0	0	0	0	0	0	1	8658	610	22	4		4	LAMA1	18	6976041	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	124966	6976041	71101207	571	64452											
PTPRM	5797	broad.mit.edu	37	chr18	7906572	7906572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtgaaggtgttaggaCatccatgtagtaagttgtct	11	13	13	4	0	1	2	0	2	1	0	2	3	2	3	1	3	0	4	1	3	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr18:7906572C>A	ENST00000332175.8	+	4	1575	c.538C>A	c.(538-540)Cat>Aat	p.H180N	PTPRM_ENST00000400060.4_Missense_Mutation_p.H180N|PTPRM_ENST00000580170.1_Missense_Mutation_p.H180N|PTPRM_ENST00000400053.4_Missense_Mutation_p.H118N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	180	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGTGTTAGGACATCCATGTAG	0.358													50	64					6.7651e-33	1.03624e-32	1	0	A	7906572	C	A	7906572	3	1	341	1	0	0	0	0	1	0	0	0	12888	478	17	4	552	4	PTPRM	18	7906572	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	930531	7906572	70170676	572	64453											
MYO5B	4645	broad.mit.edu	37	chr18	47511159	47511159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccctcgatggaagtgtctCctccctgtgatgtatagaaa	10	11	9	11	1	1	2	0	1	1	1	4	4	2	3	3	1	0	1	3	1	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr18:47511159C>T	ENST00000285039.7	-	8	1174	c.875G>A	c.(874-876)gGa>gAa	p.G292E		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	292	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGAAGTGTCTCCTCCCTGTGA	0.527													17	41					0	0	0	0	T	47511159	C	T	47511159	3	4	341	1	0	0	0	0	1	0	0	0	10149	855	30	2	4803	2	MYO5B	18	47511159	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	39604587	47511159	30566089	573	64454											
ME2	4200	broad.mit.edu	37	chr18	48447542	48447542	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggatgtttgacaagtaTggtttattagttaaggtaag	12	16	11	2	0	1	1	0	1	1	0	1	2	1	2	0	3	0	5	0	3	6	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr18:48447542T>G	ENST00000321341.5	+	10	1313	c.1041T>G	c.(1039-1041)taT>taG	p.Y347*	ME2_ENST00000382927.3_Nonsense_Mutation_p.Y347*	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	347					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TTGACAAGTATGGTTTATTAG	0.299													12	44					0	0	0	0	G	48447542	T	G	48447542	4	3	341	1	0	0	0	0	0	1	0	0	9487	1471	51	5	1075	5	ME2	18	48447542	Nonsense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	936383	48447542	29629706	574	64455											
POLI	11201	broad.mit.edu	37	chr18	51800403	51800403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagaaaagtgtccacagttgGtattagttaatggagaagac	16	10	11	4	0	0	3	0	0	0	3	1	4	1	3	1	2	0	3	1	2	7	4	rs142974796	byFrequency	TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr18:51800403G>T	ENST00000579534.1	+	3	492	c.349G>T	c.(349-351)Gta>Tta	p.V117L	POLI_ENST00000579434.1_Missense_Mutation_p.V14L|POLI_ENST00000217800.5_Missense_Mutation_p.V14L|POLI_ENST00000406285.3_Missense_Mutation_p.V117L	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	117	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TCCACAGTTGGTATTAGTTAA	0.348								DNA polymerases (catalytic subunits)					9	21					0.000274275	0.000291653	1	0	T	51800403	G	T	51800403	3	4	341	1	0	0	0	0	1	0	0	0	12275	1261	44	4	359	4	POLI	18	51800403	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	3352861	51800403	26276845	575	64456											
CNDP1	84735	broad.mit.edu	37	chr18	72228101	72228101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattctgcagctgcccgatgGtcagagtcttccaatacctc	8	11	8	14	1	3	1	1	0	2	1	5	2	4	1	3	1	4	2	3	1	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr18:72228101G>A	ENST00000582365.1	+	3	251	c.185G>A	c.(184-186)gGt>gAt	p.G62D	CNDP1_ENST00000358821.3_Missense_Mutation_p.G105D|CNDP1_ENST00000585136.1_Intron			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	105					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTGCCCGATGGTCAGAGTCTT	0.498													64	174					0	0	0	0	A	72228101	G	A	72228101	3	1	341	1	0	0	0	0	1	0	0	0	3623	1261	44	4	328	4	CNDP1	18	72228101	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	20427698	72228101	5849147	576	64457											
MUM1	84939	broad.mit.edu	37	chr19	1360487	1360487	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgaaaacccaagaggcccGttggtcctcccagctggagg	10	6	13	12	1	0	2	0	1	0	1	2	3	2	3	4	4	2	2	4	4	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:1360487G>T	ENST00000311401.5	+	5	749	c.363G>T	c.(361-363)ccG>ccT	p.P121P	MUM1_ENST00000591806.1_Silent_p.P190P|MUM1_ENST00000415183.3_Silent_p.P190P|MUM1_ENST00000344663.3_Silent_p.P190P			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	189					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|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)		CAAGAGGCCCGTTGGTCCTCC	0.527											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	31					0.00316338	0.00328243	1	0	T	1360487	G	T	1360487	2	4	341	1	0	0	0	0	0	0	0	1	10055	1132	40	3		3	MUM1	19	1360487	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08		1360487	57768496	577	64458											
UBXN6	80700	broad.mit.edu	37	chr19	4447568	4447568	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacaccttgttctgcagCttgatcttccggtacttctc	7	15	7	12	1	3	2	0	2	3	0	5	2	4	2	2	1	4	4	2	1	2	6			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:4447568C>T	ENST00000301281.6	-	6	718	c.594G>A	c.(592-594)aaG>aaA	p.K198K	UBXN6_ENST00000394765.3_Silent_p.K145K|CTB-50L17.7_ENST00000588798.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	198	PUB.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TGTTCTGCAGCTTGATCTTCC	0.667													39	54					0	0	0	0	T	4447568	C	T	4447568	2	4	341	1	0	0	0	0	0	0	0	1	17013	796	28	4		4	UBXN6	19	4447568	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3087081	4447568	54681415	578	64459											
ACSBG2	81616	broad.mit.edu	37	chr19	6166026	6166026	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgctcagtcatgacaaCgtacgccaaagtccctttgc	10	10	9	12	2	2	2	2	2	0	0	3	2	3	2	2	0	4	2	2	0	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:6166026C>T	ENST00000588304.1	+	7	1034	c.588_splice	c.e7+1	p.N196_splice	ACSBG2_ENST00000252669.5_Splice_Site_p.N246_splice|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Splice_Site_p.N59_splice|ACSBG2_ENST00000591403.1_Splice_Site_p.N246_splice|ACSBG2_ENST00000586696.1_Splice_Site_p.N246_splice			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	246					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	p.N246N(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCATGACAACGTACGCCAAA	0.552											OREG0025194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	70					0	0	0	0	T	6166026	C	T	6166026	5	4	341	1	0	0	0	0	0	0	1	0	174	550	19	1	760	1	ACSBG2	19	6166026	Splice_Site	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1718458	6166026	52962957	579	64460											
DNM2	1785	broad.mit.edu	37	chr19	10940839	10940839	+	Frame_Shift_Del	DEL	C	C	-																															cgaccggtgtccagcatacaCccccctggccggcccccagc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:10940839delC	ENST00000314646.5	+	20	2492	c.2328delC	c.(2326-2328)cafs	p.H776fs	DNM2_ENST00000359692.6_Frame_Shift_Del_p.H772fs|DNM2_ENST00000389253.4_Frame_Shift_Del_p.H776fs|DNM2_ENST00000585892.1_Frame_Shift_Del_p.H776fs|DNM2_ENST00000355667.6_Frame_Shift_Del_p.H776fs|DNM2_ENST00000408974.4_Frame_Shift_Del_p.H772fs			P50570	DYN2_HUMAN	dynamin 2	776	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCAGCATACACCCCCCTGGCC	0.682			"F, N, Splice, Mis, O"		ETP ALL								73	131	---	---	---	---					-	10940839	C	-	10940839	7	5	341	1	0	1	0	1	0	0	0	0	4708	506	18	0	2549	0	DNM2	19	10940839	Frame_Shift_Del	DEL	C	TCGA-CV-A461-01A-41D-A25Y-08	4774813	10940839	48188144	580	64461											
CCDC130	81576	broad.mit.edu	37	chr19	13873432	13873432	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacaagcagaaactcaagcgGaccgagatcatcagccgctc	14	4	10	13	3	3	2	3	0	0	2	4	5	3	3	2	1	4	2	2	1	3	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:13873432G>A	ENST00000586600.1	+	11	1244	c.741G>A	c.(739-741)cgG>cgA	p.R247R	CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Silent_p.R247R			P13994	CC130_HUMAN	coiled-coil domain containing 130	247					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AACTCAAGCGGACCGAGATCA	0.627													45	22					0	0	0	0	A	13873432	G	A	13873432	2	1	341	1	0	0	0	0	0	0	0	1	2791	1161	41	2		2	CCDC130	19	13873432	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2932593	13873432	45255551	581	64462											
IL27RA	9466	broad.mit.edu	37	chr19	14153563	14153563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtatcagggaacctctgtGggacgcctggaggagaggaa	10	6	18	7	1	2	1	1	0	1	1	2	6	2	5	2	6	1	1	2	6	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:14153563G>T	ENST00000263379.2	+	6	855	c.730G>T	c.(730-732)Ggg>Tgg	p.G244W		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	244					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GAACCTCTGTGGGACGCCTGG	0.502											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	47					6.5261e-18	9.22738e-18	1	0	T	14153563	G	T	14153563	3	4	341	1	0	0	0	0	1	0	0	0	7734	1348	47	4	752	4	IL27RA	19	14153563	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	280131	14153563	44975420	582	64463											
ILVBL	10994	broad.mit.edu	37	chr19	15228702	15228702	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggctcaccctgcacagcCtcctggggcttccagaagat	8	7	12	14	0	1	2	1	0	0	2	3	2	3	2	4	4	2	3	4	4	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:15228702C>T	ENST00000263383.3	-	10	1315	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	ILVBL_ENST00000534378.1_Silent_p.E285E	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	392						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CCTGCACAGCCTCCTGGGGCT	0.562													21	82					0	0	0	0	T	15228702	C	T	15228702	2	4	341	1	0	0	0	0	0	0	0	1	7768	680	24	4		4	ILVBL	19	15228702	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1075139	15228702	43900281	583	64464											
ZNF208	7757	broad.mit.edu	37	chr19	22157133	22157133	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacttactaaaggctttgcCacattctttacatctgtagg	11	14	7	9	0	2	0	0	0	2	0	2	1	2	0	1	2	4	2	1	2	6	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:22157133C>A	ENST00000397126.4	-	4	851	c.703G>T	c.(703-705)Ggc>Tgc	p.G235C	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGGCTTTGCCACATTCTTTA	0.378													45	64					3.54909e-21	5.19905e-21	1	0	A	22157133	C	A	22157133	3	1	341	1	0	0	0	0	1	0	0	0	17861	594	21	4	3143	4	ZNF208	19	22157133	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	6928431	22157133	36971850	584	64465											
APLP1	333	broad.mit.edu	37	chr19	36369532	36369532	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgagaaagagaagatgaaCccgctggaacagtatgagcg	15	5	13	8	2	0	5	0	3	0	3	0	8	0	6	2	1	3	2	2	1	5	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:36369532C>A	ENST00000221891.4	+	14	1818	c.1626C>A	c.(1624-1626)aaC>aaA	p.N542K	APLP1_ENST00000586861.1_Missense_Mutation_p.N535K|APLP1_ENST00000537454.2_Missense_Mutation_p.N502K	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	541					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGAAGATGAACCCGCTGGAAC	0.483													7	74					8.12818e-05	8.82554e-05	1	0	A	36369532	C	A	36369532	3	1	341	1	0	0	0	0	1	0	0	0	780	506	18	4	1680	4	APLP1	19	36369532	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	14212399	36369532	22759451	585	64466											
ZNF568	374900	broad.mit.edu	37	chr19	37441338	37441338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaatgtgggaaagccttctCtcagagttcatccctaaccg	10	11	9	11	1	3	2	2	1	1	1	5	3	4	3	3	1	2	1	3	1	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:37441338C>T	ENST00000415168.1	+	5	1467	c.1091C>T	c.(1090-1092)tCt>tTt	p.S364F	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.S428F	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGCCTTCTCTCAGAGTTCA	0.398													23	109					0	0	0	0	T	37441338	C	T	37441338	3	4	341	1	0	0	0	0	1	0	0	0	18094	913	32	2	1301	2	ZNF568	19	37441338	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1071806	37441338	21687645	586	64467											
ZNF585B	92285	broad.mit.edu	37	chr19	37678134	37678134	+	Missense_Mutation	SNP	C	C	A																															ttctatgttgattatggtccCataatttctctcctgttgga																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:37678134C>A	ENST00000532828.2	-	5	556	c.305G>T	c.(304-306)tGg>tTg	p.W102L	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_Missense_Mutation_p.W102L|ZNF585B_ENST00000531805.1_Missense_Mutation_p.W47L	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.W102T(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTATGGTCCCATAATTTCTC	0.333													22	89					1.10513e-12	1.4363e-12	1	0	A	37678134	C	A	37678134	3	1	341	1	0	0	0	0	1	0	0	0	18113	595	21	4	2008	4	ZNF585B	19	37678134	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	236796	37678134	21450849	587	64468	774	2									
ZNF585B	92285	broad.mit.edu	37	chr19	37678135	37678135	+	Missense_Mutation	SNP	A	A	T																															tctatgttgattatggtcccAtaatttctctcctgttggag																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:37678135A>T	ENST00000532828.2	-	5	555	c.304T>A	c.(304-306)Tgg>Agg	p.W102R	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_Missense_Mutation_p.W102R|ZNF585B_ENST00000531805.1_Missense_Mutation_p.W47R	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.W102T(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATGGTCCCATAATTTCTCT	0.333													22	90					0	0	0	0	T	37678135	A	T	37678135	3	4	341	1	0	0	0	0	1	0	0	0	18113	217	8	5	2009	5	ZNF585B	19	37678135	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	1	37678135	21450848	588	64469	774	2									
KCNK6	9424	broad.mit.edu	37	chr19	38817296	38817296	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatcgcctttgcgctccTgggcgtgccgaccaccatgc	4	9	10	18	4	0	0	0	0	0	0	3	1	2	0	6	1	3	1	6	1	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:38817296T>A	ENST00000263372.3	+	2	493	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	129						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	TTTGCGCTCCTGGGCGTGCCG	0.597													27	121					0	0	0	0	A	38817296	T	A	38817296	3	1	341	1	0	0	0	0	1	0	0	0	8123	1580	55	5	392	5	KCNK6	19	38817296	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	1139161	38817296	20311687	589	64470											
MED29	55588	broad.mit.edu	37	chr19	39888291	39888291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggactgtgccaacaaggtCacgggcaagacacccgcacc	11	4	11	15	2	1	1	1	0	0	1	1	2	1	2	3	3	2	2	3	3	3	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:39888291C>T	ENST00000594368.1	+	4	515	c.485C>T	c.(484-486)tCa>tTa	p.S162L	MED29_ENST00000599213.2_Silent_p.V185V|MED29_ENST00000315588.5_Silent_p.V206V			Q9NX70	MED29_HUMAN	mediator complex subunit 29	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCAACAAGGTCACGGGCAAGA	0.627											OREG0025460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	33					0	0	0	0	T	39888291	C	T	39888291	3	4	341	1	0	0	0	0	1	0	0	0	9516	813	29	2	632	2	MED29	19	39888291	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1070995	39888291	19240692	590	64471											
DLL3	10683	broad.mit.edu	37	chr19	39994820	39994820	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacggtccctgtctccacCagcagctgcctcagccccag	6	7	9	19	1	2	0	1	0	1	0	4	0	3	0	6	1	5	3	6	1	0	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:39994820C>T	ENST00000205143.4	+	5	769	c.762C>T	c.(760-762)acC>acT	p.T254T	DLL3_ENST00000356433.5_Silent_p.T254T	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	254					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTGTCTCCACCAGCAGCTGCC	0.667													17	86					0	0	0	0	T	39994820	C	T	39994820	2	4	341	1	0	0	0	0	0	0	0	1	4604	581	21	4		4	DLL3	19	39994820	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	106529	39994820	19134163	591	64472											
DEDD2	162989	broad.mit.edu	37	chr19	42713939	42713941	+	In_Frame_Del	DEL	CAC	CAC	-																															ccctctccgccgccgtctggCaccaccactgggccggcccc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:42713939_42713941delCAC	ENST00000595337.1	-	4	587_589	c.500_502delGTG	c.(499-504)gcc>g	p.GA167del	DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000598727.1_In_Frame_Del_p.GA167del|DEDD2_ENST00000336034.4_In_Frame_Del_p.GA162del|DEDD2_ENST00000596251.1_In_Frame_Del_p.GA167del	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	167					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CGCCGTCTGGCACCACCACTGGG	0.655													47	82	---	---	---	---					-	42713941	CAC	-	42713939	7	5	341	1	0	1	0	1	0	0	0	0	4417	710	25	0	486	0	DEDD2	19	42713939	In_Frame_Del	DEL	CAC	TCGA-CV-A461-01A-41D-A25Y-08	2719119	42713939	16415044	592	64473											
PSG1	5669	broad.mit.edu	37	chr19	43372220	43372220	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagatagactccacctaaaAccctattgccaacgatgctg	13	8	6	14	1	0	2	0	0	0	2	1	3	1	2	5	0	4	1	5	0	5	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:43372220A>T	ENST00000244296.2	-	5	1413	c.1276T>A	c.(1276-1278)Ttt>Att	p.F426I	PSG1_ENST00000595356.1_Intron|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000436291.2_Intron|PSG1_ENST00000312439.6_Intron|PSG1_ENST00000403380.3_Intron	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TCCACCTAAAACCCTATTGCC	0.478													92	318					0	0	0	0	T	43372220	A	T	43372220	3	4	341	1	0	0	0	0	1	0	0	0	12732	43	2	5	44	5	PSG1	19	43372220	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	658281	43372220	15756763	593	64474											
XRCC1	7515	broad.mit.edu	37	chr19	44057827	44057827	+	Frame_Shift_Del	DEL	G	G	-																															cgtacaaaactcaagccaaaGggggagtcctgggaaaggag																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:44057827delG	ENST00000262887.5	-	5	970	c.423delC	c.(421-423)ccfs	p.P141fs	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Frame_Shift_Del_p.P110fs			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	141					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCAAGCCAAAGGGGGAGTCCT	0.592								Other BER factors					16	58	---	---	---	---					-	44057827	G	-	44057827	7	5	341	1	0	1	0	1	0	0	0	0	17548	987	35	0	1530	0	XRCC1	19	44057827	Frame_Shift_Del	DEL	G	TCGA-CV-A461-01A-41D-A25Y-08	685607	44057827	15071156	594	64475											
ZNF180	7733	broad.mit.edu	37	chr19	44981658	44981658	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaaggtttctcttcagaaTtatttctcatgttttgagta	11	18	6	6	0	3	2	2	1	2	1	5	2	3	2	0	1	0	3	0	1	5	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:44981658T>A	ENST00000221327.4	-	5	1321	c.1040A>T	c.(1039-1041)aAt>aTt	p.N347I	ZNF180_ENST00000592529.1_Missense_Mutation_p.N320I|ZNF180_ENST00000391956.4_Missense_Mutation_p.N322I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTCTTCAGAATTATTTCTCAT	0.388													50	147					0	0	0	0	A	44981658	T	A	44981658	3	1	341	1	0	0	0	0	1	0	0	0	17843	1493	52	5	1042	5	ZNF180	19	44981658	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	923831	44981658	14147325	595	64476											
MARK4	57787	broad.mit.edu	37	chr19	45774876	45774876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttcagggcaagaagtaCgacgggccggaggtggacat	10	7	16	8	3	1	1	1	0	0	1	1	4	1	3	1	5	1	3	1	5	3	2	rs151153987		TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:45774876C>T	ENST00000300843.4	+	8	993	c.696C>T	c.(694-696)taC>taT	p.Y232Y	MARK4_ENST00000262891.4_Silent_p.Y232Y	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	232	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCAAGAAGTACGACGGGCCGG	0.622													12	85					0	0	0	0	T	45774876	C	T	45774876	2	4	341	1	0	0	0	0	0	0	0	1	9384	547	19	1		1	MARK4	19	45774876	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	793218	45774876	13354107	596	64477											
NOSIP	51070	broad.mit.edu	37	chr19	50059064	50059064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttcactccggagcccgCgaagccggtaccgccctggg	6	5	13	17	5	1	0	1	0	0	0	2	2	2	1	5	3	4	2	5	3	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:50059064C>A	ENST00000391853.3	-	10	1001	c.850G>T	c.(850-852)Gcg>Tcg	p.A284S	NOSIP_ENST00000596358.1_Missense_Mutation_p.A284S|NOSIP_ENST00000339093.3_Missense_Mutation_p.A287S	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	284					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CCGGAGCCCGCGAAGCCGGTA	0.647													7	40					2.7689e-08	3.2886e-08	1	0	A	50059064	C	A	50059064	3	1	341	1	0	0	0	0	1	0	0	0	10615	768	27	3	59	3	NOSIP	19	50059064	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	4284188	50059064	9069919	597	64478											
KLK5	25818	broad.mit.edu	37	chr19	51451950	51451950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaacatggtgtcatctatCtgtctcgggtaagcatcctc	9	12	9	11	1	4	1	1	0	3	1	7	1	5	1	1	2	2	2	1	2	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:51451950C>G	ENST00000336334.3	-	5	1024	c.672G>C	c.(670-672)caG>caC	p.Q224H	KLK5_ENST00000593428.1_Missense_Mutation_p.Q224H|KLK5_ENST00000391809.2_Missense_Mutation_p.Q224H	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	224	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGTCATCTATCTGTCTCGGGT	0.502													18	48					0	0	0	0	G	51451950	C	G	51451950	3	3	341	1	0	0	0	0	1	0	0	0	8459	912	32	2	217	2	KLK5	19	51451950	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1392886	51451950	7677033	598	64479											
FPR1	2357	broad.mit.edu	37	chr19	52249312	52249312	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgggaagggcgtggatCagcctctcccggaagtcctg	6	7	16	12	3	2	0	1	0	1	0	4	3	3	3	3	5	1	0	3	5	2	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:52249312C>A	ENST00000595042.1	-	3	1077	c.936G>T	c.(934-936)ctG>ctT	p.L312L	FPR1_ENST00000304748.4_Silent_p.L312L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	312					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGGCGTGGATCAGCCTCTCCC	0.562													28	102					8.24728e-16	1.12291e-15	1	0	A	52249312	C	A	52249312	2	1	341	1	0	0	0	0	0	0	0	1	6085	813	29	2		2	FPR1	19	52249312	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	797362	52249312	6879671	599	64480											
ZNF610	162963	broad.mit.edu	37	chr19	52869692	52869692	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtggcaaggtctttaGtctgctttcataccttgcac	8	15	9	9	0	3	1	1	1	2	0	3	1	3	1	1	2	3	3	1	2	4	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:52869692G>C	ENST00000601151.1	+	5	1384	c.932G>C	c.(931-933)aGt>aCt	p.S311T	ZNF610_ENST00000403906.3_Missense_Mutation_p.S354T|ZNF610_ENST00000321287.8_Missense_Mutation_p.S354T|ZNF610_ENST00000327920.8_Missense_Mutation_p.S354T	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AAGGTCTTTAGTCTGCTTTCA	0.423													36	95					0	0	0	0	C	52869692	G	C	52869692	3	2	341	1	0	0	0	0	1	0	0	0	18131	1029	36	4	1075	4	ZNF610	19	52869692	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	620380	52869692	6259291	600	64481											
PRKCG	5582	broad.mit.edu	37	chr19	54394954	54394954	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcccgtaacctaattcctAtggaccccaatggtctctct	9	11	7	14	1	2	0	0	0	2	0	4	1	3	1	5	3	1	1	5	3	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:54394954A>G	ENST00000263431.3	+	6	838	c.556A>G	c.(556-558)Atg>Gtg	p.M186V	PRKCG_ENST00000540413.1_Missense_Mutation_p.M186V|PRKCG_ENST00000536044.1_Missense_Mutation_p.M186V|PRKCG_ENST00000542049.1_Missense_Mutation_p.M73V	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	186	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCTAATTCCTATGGACCCCAA	0.557													30	120					0	0	0	0	G	54394954	A	G	54394954	3	3	341	1	0	0	0	0	1	0	0	0	12592	449	16	5	578	5	PRKCG	19	54394954	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	1525262	54394954	4734029	601	64482											
KIR3DL2	3812	broad.mit.edu	37	chr19	55378000	55378000	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgaacaagaccctcaGgaggtgacgtacgcacagtt	12	8	11	10	2	2	4	1	3	1	1	2	5	2	5	1	2	2	3	1	2	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:55378000G>A	ENST00000326321.3	+	9	1215	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	KIR3DL1_ENST00000402254.2_Silent_p.Q394Q|KIR3DL2_ENST00000270442.5_Silent_p.Q377Q	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	394					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AAGACCCTCAGGAGGTGACGT	0.498													73	273					0	0	0	0	A	55378000	G	A	55378000	2	1	341	1	0	0	0	0	0	0	0	1	8373	991	35	4		4	KIR3DL2	19	55378000	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	983046	55378000	3750983	602	64483											
NLRP11	204801	broad.mit.edu	37	chr19	56313039	56313039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgatactcaggtatgtcagGctccgattacgagccaaagc	11	10	10	10	2	2	1	2	1	0	0	3	3	3	1	2	2	4	2	2	2	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:56313039G>T	ENST00000443188.1	-	7	2780	c.2070C>A	c.(2068-2070)agC>agA	p.S690R	NLRP11_ENST00000589093.1_Missense_Mutation_p.S690R|NLRP11_ENST00000360133.3_Missense_Mutation_p.S636R|NLRP11_ENST00000589824.2_Missense_Mutation_p.S636R|NLRP11_ENST00000592953.1_Missense_Mutation_p.S591R	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	690							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)		GGTATGTCAGGCTCCGATTAC	0.448													23	62					5.26018e-13	6.87116e-13	1	0	T	56313039	G	T	56313039	3	4	341	1	0	0	0	0	1	0	0	0	10543	1194	42	4	1055	4	NLRP11	19	56313039	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	935039	56313039	2815944	603	64484											
ZNF324B	388569	broad.mit.edu	37	chr19	58967389	58967389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaacctcagccagcacCgcaagatccacgcgggtggg	9	4	12	16	3	1	1	1	0	0	1	3	1	3	1	5	2	3	3	5	2	2	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr19:58967389C>T	ENST00000391696.1	+	3	1980	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	ZNF324B_ENST00000545523.1_Missense_Mutation_p.R360C|ZNF324B_ENST00000336614.4_Missense_Mutation_p.R360C			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CAGCCAGCACCGCAAGATCCA	0.667													8	35					0	0	0	0	T	58967389	C	T	58967389	3	4	341	1	0	0	0	0	1	0	0	0	17940	652	23	1	1088	1	ZNF324B	19	58967389	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2654350	58967389	161594	604	64485											
DEFB129	140881	broad.mit.edu	37	chr20	210098	210098	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtacttaatgaagacgtcCaagaaatgctaaaacctgcc	16	9	7	9	1	0	3	0	1	0	2	1	3	1	3	3	0	4	2	3	0	7	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr20:210098C>T	ENST00000246105.4	+	2	269	c.238C>T	c.(238-240)Caa>Taa	p.Q80*		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	80					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGAAGACGTCCAAGAAATGCT	0.338													28	104					0	0	0	0	T	210098	C	T	210098	4	4	341	1	0	0	0	0	0	1	0	0	4451	595	21	4	244	4	DEFB129	20	210098	Nonsense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08		210098	62815422	605	64486											
PTPRA	5786	broad.mit.edu	37	chr20	2944950	2944950	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggttcattcttgttctGctcggcagtggtctgatatg	4	17	11	9	1	4	1	1	1	3	0	6	1	5	1	1	3	1	4	1	3	1	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr20:2944950G>T	ENST00000216877.6	+	4	427	c.27G>T	c.(25-27)ctG>ctT	p.L9L	PTPRA_ENST00000399903.2_Silent_p.L9L|PTPRA_ENST00000318266.5_Silent_p.L9L|PTPRA_ENST00000356147.3_Silent_p.L9L|PTPRA_ENST00000380393.3_Silent_p.L9L|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000425918.2_Silent_p.L20L	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	9					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTCTTGTTCTGCTCGGCAGTG	0.408													45	174					9.84934e-19	1.40809e-18	1	0	T	2944950	G	T	2944950	2	4	341	1	0	0	0	0	0	0	0	1	12877	1306	46	4		4	PTPRA	20	2944950	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2734852	2944950	60080570	606	64487											
PLCB4	5332	broad.mit.edu	37	chr20	9404447	9404447	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgtgtatgatgataacaAcaagctgattggccagagga	14	9	12	6	0	0	4	0	3	0	1	0	5	0	5	1	2	4	3	1	2	4	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr20:9404447A>G	ENST00000378501.2	+	24	2351	c.2336A>G	c.(2335-2337)aAc>aGc	p.N779S	PLCB4_ENST00000414679.2_Missense_Mutation_p.N791S|PLCB4_ENST00000378493.1_Missense_Mutation_p.N779S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.N791S|PLCB4_ENST00000334005.3_Missense_Mutation_p.N779S|PLCB4_ENST00000278655.4_Missense_Mutation_p.N779S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	779	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GATGATAACAACAAGCTGATT	0.478													10	37					0	0	0	0	G	9404447	A	G	9404447	3	3	341	1	0	0	0	0	1	0	0	0	12102	43	2	5	2470	5	PLCB4	20	9404447	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	6459497	9404447	53621073	607	64488											
PCSK2	5126	broad.mit.edu	37	chr20	17437036	17437036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcactctgaggcattctgGgacatctgcagctgcccccg	6	9	11	15	1	3	1	0	1	3	0	3	2	3	2	2	2	4	4	2	2	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr20:17437036G>T	ENST00000262545.2	+	10	1460	c.1145G>T	c.(1144-1146)gGg>gTg	p.G382V	PCSK2_ENST00000536609.1_Missense_Mutation_p.G347V|PCSK2_ENST00000377899.1_Missense_Mutation_p.G363V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	382	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGCATTCTGGGACATCTGCA	0.542													46	180					2.43468e-25	3.65676e-25	1	0	T	17437036	G	T	17437036	3	4	341	1	0	0	0	0	1	0	0	0	11672	1232	43	4	1183	4	PCSK2	20	17437036	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	8032589	17437036	45588484	608	64489											
BFSP1	631	broad.mit.edu	37	chr20	17475167	17475167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cattctctaaagggggcttgGgtgactcaggagagggctcc	8	9	15	9	0	2	2	1	1	1	1	4	3	3	2	1	5	0	2	1	5	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr20:17475167G>C	ENST00000377873.3	-	8	1589	c.1550C>G	c.(1549-1551)cCc>cGc	p.P517R	BFSP1_ENST00000377868.2_Missense_Mutation_p.P392R|BFSP1_ENST00000536626.1_Missense_Mutation_p.P378R|BFSP1_ENST00000544874.1_Missense_Mutation_p.P378R	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	517	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						AGGGGGCTTGGGTGACTCAGG	0.527													21	74					0	0	0	0	C	17475167	G	C	17475167	3	2	341	1	0	0	0	0	1	0	0	0	1420	1232	43	4	451	4	BFSP1	20	17475167	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	38131	17475167	45550353	609	64490											
RALGAPB	57148	broad.mit.edu	37	chr20	37191329	37191329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgttgtgatgatggtgaagGatctcaacaaggtaaaactc	13	12	11	5	0	1	3	1	3	1	0	3	4	1	4	0	3	2	2	0	3	5	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr20:37191329G>A	ENST00000262879.6	+	24	3970	c.3686G>A	c.(3685-3687)gGa>gAa	p.G1229E	RALGAPB_ENST00000397038.1_Missense_Mutation_p.G1007E|RALGAPB_ENST00000397040.1_Missense_Mutation_p.G1229E|RALGAPB_ENST00000397042.3_Missense_Mutation_p.G1225E			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1229	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GATGGTGAAGGATCTCAACAA	0.403													25	115					0	0	0	0	A	37191329	G	A	37191329	3	1	341	1	0	0	0	0	1	0	0	0	13097	1174	41	2	3776	2	RALGAPB	20	37191329	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	19716162	37191329	25834191	610	64491											
CHD6	84181	broad.mit.edu	37	chr20	40076562	40076562	+	Nonsense_Mutation	SNP	C	C	A																															tgctttctcagctgcttctcCcagtatttcagcttttaggt																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr20:40076562C>A	ENST00000373233.3	-	24	3910	c.3733G>T	c.(3733-3735)Gga>Tga	p.G1245*	CHD6_ENST00000309279.7_Nonsense_Mutation_p.G728*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1245					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCTGCTTCTCCCAGTATTTCA	0.373													25	129					2.12542e-12	2.74844e-12	1	0	A	40076562	C	A	40076562	4	1	341	1	0	0	0	0	0	1	0	0	3358	632	22	4	4470	4	CHD6	20	40076562	Nonsense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2885233	40076562	22948958	611	64492	775	2									
CHD6	84181	broad.mit.edu	37	chr20	40076563	40076563	+	Silent	SNP	C	C	G																															gctttctcagctgcttctccCagtatttcagcttttaggta																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr20:40076563C>G	ENST00000373233.3	-	24	3909	c.3732G>C	c.(3730-3732)ctG>ctC	p.L1244L	CHD6_ENST00000309279.7_Silent_p.L727L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1244					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGCTTCTCCCAGTATTTCAG	0.378													26	131					0	0	0	0	G	40076563	C	G	40076563	2	3	341	1	0	0	0	0	0	0	0	1	3358	581	21	4		4	CHD6	20	40076563	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1	40076563	22948957	612	64493	775	2									
MMP9	4318	broad.mit.edu	37	chr20	44640844	44640844	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccccttcactttcctgggtAaggagtactcgacctgtacc	7	12	8	14	1	1	0	1	0	0	0	4	2	3	1	5	2	2	3	5	2	3	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr20:44640844A>T	ENST00000372330.3	+	7	1085	c.1066A>T	c.(1066-1068)Aag>Tag	p.K356*		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	356	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTTCCTGGGTAAGGAGTACTC	0.627													32	141					0	0	0	0	T	44640844	A	T	44640844	4	4	341	1	0	0	0	0	0	1	0	0	9739	363	13	5	1092	5	MMP9	20	44640844	Nonsense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	4564281	44640844	18384676	613	64494											
CDH22	64405	broad.mit.edu	37	chr20	44839167	44839167	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagggcctccaggatcacGgtgtgcacgggctgggattc	6	9	16	10	2	1	1	1	1	0	0	3	3	2	3	2	5	1	2	2	5	0	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr20:44839167G>C	ENST00000372262.3	-	6	1465	c.1065C>G	c.(1063-1065)acC>acG	p.T355T	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.T355T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	355	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCAGGATCACGGTGTGCACGG	0.682													10	36					0	0	0	0	C	44839167	G	C	44839167	2	2	341	1	0	0	0	0	0	0	0	1	3136	1103	39	3		3	CDH22	20	44839167	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	198323	44839167	18186353	614	64495											
SLC13A3	64849	broad.mit.edu	37	chr20	45217895	45217895	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttattcttcctccagcccCtgaaacagaaagtgggagat	12	11	8	10	0	1	3	0	1	1	2	3	4	3	3	4	1	2	0	4	1	3	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr20:45217895C>T	ENST00000279027.4	-	7	939		c.e7-1		SLC13A3_ENST00000396360.1_Splice_Site|SLC13A3_ENST00000290317.5_Splice_Site|SLC13A3_ENST00000413164.2_Splice_Site|SLC13A3_ENST00000472148.1_Splice_Site|SLC13A3_ENST00000495082.1_Splice_Site|SLC13A3_ENST00000435032.1_Splice_Site|SLC13A3_ENST00000372121.1_Splice_Site	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3							integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCTCCAGCCCCTGAAACAGAA	0.483													28	77					0	0	0	0	T	45217895	C	T	45217895	5	4	341	1	0	0	0	0	0	0	1	0	14481	695	24	4	916	4	SLC13A3	20	45217895	Splice_Site	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	378728	45217895	17807625	615	64496											
SALL4	57167	broad.mit.edu	37	chr20	50418837	50418837	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctcccccgccgcgggCgccgctggggccgcatctgc	2	4	14	21	6	1	0	0	0	1	0	2	0	2	0	6	3	2	3	6	3	0	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr20:50418837C>T	ENST00000217086.4	-	1	222	c.111G>A	c.(109-111)gcG>gcA	p.A37A	SALL4_ENST00000395997.3_Silent_p.A37A|SALL4_ENST00000371539.3_Silent_p.A37A	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	37					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ccgccgcgggcgccgctgggg	0.736													5	22					0	0	0	0	T	50418837	C	T	50418837	2	4	341	1	0	0	0	0	0	0	0	1	13898	755	27	1		1	SALL4	20	50418837	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	5200942	50418837	12606683	616	64497											
PCK1	5105	broad.mit.edu	37	chr20	56139391	56139391	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaggcattgatgagccGctagcttcaggtgtcaccat	9	10	13	9	1	2	2	2	2	0	0	2	3	2	3	2	3	2	3	2	3	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr20:56139391G>C	ENST00000319441.4	+	7	1292	c.1128G>C	c.(1126-1128)ccG>ccC	p.P376P	PCK1_ENST00000535860.1_Silent_p.P244P|PCK1_ENST00000543666.1_Silent_p.P59P	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	376					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTGATGAGCCGCTAGCTTCAG	0.567													15	54					0	0	0	0	C	56139391	G	C	56139391	2	2	341	1	0	0	0	0	0	0	0	1	11652	1074	38	3		3	PCK1	20	56139391	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	5720554	56139391	6886129	617	64498											
LSM14B	149986	broad.mit.edu	37	chr20	60697741	60697742	+	Frame_Shift_Ins	INS	-	-	C																															catgagcggctcctcaggcaINSccccgtatctgggcagcaag																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr20:60697741_60697742insC	ENST00000253001.4	+	1	225_226	c.19_20insC	c.(19-21)cccfs	p.P7fs	LSM14B_ENST00000370915.1_Frame_Shift_Ins_p.P7fs|LSM14B_ENST00000279068.6_Frame_Shift_Ins_p.P7fs			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	7					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTCCTCAGGCACCCCGTATCTG	0.723													8	36	---	---	---	---					C	60697742	-	C	60697741	7	5	341	1	0	1	1	0	0	0	0	0	9119	159	6	0	21	0	LSM14B	20	60697741	Frame_Shift_Ins	INS	-	TCGA-CV-A461-01A-41D-A25Y-08	4558350	60697741	2327779	618	64499											
DIDO1	11083	broad.mit.edu	37	chr20	61542307	61542307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaaccccctgatcgttctCgggctcctgcttactgggca	6	10	9	16	2	1	1	0	1	1	0	4	1	2	1	3	2	3	4	3	2	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr20:61542307C>T	ENST00000266070.4	-	3	983	c.658G>A	c.(658-660)Gag>Aag	p.E220K	DIDO1_ENST00000266071.5_Missense_Mutation_p.E220K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E220K|DIDO1_ENST00000370366.1_Missense_Mutation_p.E220K|DIDO1_ENST00000395343.1_Missense_Mutation_p.E220K|DIDO1_ENST00000370368.1_Missense_Mutation_p.E220K|DIDO1_ENST00000370371.4_Missense_Mutation_p.E220K|DIDO1_ENST00000354665.4_Missense_Mutation_p.E220K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E220K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	220					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGATCGTTCTCGGGCTCCTGC	0.622													30	101					0	0	0	0	T	61542307	C	T	61542307	3	4	341	1	0	0	0	0	1	0	0	0	4559	893	31	1	6250	1	DIDO1	20	61542307	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	844566	61542307	1483213	619	64500											
CCT8	10694	broad.mit.edu	37	chr21	30445983	30445983	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcgaggagcacgcacagccTtctgggaaagcagcgtgggg	10	4	17	10	3	1	0	0	0	1	0	1	3	1	2	1	4	5	3	1	4	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr21:30445983T>A	ENST00000286788.4	-	0	135					NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)						'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						ACGCACAGCCTTCTGGGAAAG	0.647													6	39					0	0	0	0	A	30445983	T	A	30445983	1	1	341	1	0	0	0	0	0	0	0	0	2989	1624	56	5		5	CCT8	21	30445983	Translation_Start_Site	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08		30445983	17683912	620	64501											
SIM2	6493	broad.mit.edu	37	chr21	38115850	38115850	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagaacaaacccttacccCccacaggtaacacgcatgtc	13	6	6	16	1	0	1	0	1	0	1	1	2	0	1	4	1	4	2	4	1	4	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr21:38115850C>T	ENST00000290399.6	+	9	1774	c.1161C>T	c.(1159-1161)ccC>ccT	p.P387P	SIM2_ENST00000430056.3_Silent_p.P387P	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	387	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						ACCCTTACCCCCCACAGGTAA	0.493													38	99					0	0	0	0	T	38115850	C	T	38115850	2	4	341	1	0	0	0	0	0	0	0	1	14412	610	22	4		4	SIM2	21	38115850	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	7669867	38115850	10014045	621	64502											
PSMG1	8624	broad.mit.edu	37	chr21	40547564	40547564	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgttgtcatcaatttcttTagtatctcagtgctttgggg	6	20	9	6	0	4	0	3	0	2	0	5	0	4	0	0	2	1	3	0	2	3	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr21:40547564T>A	ENST00000331573.3	-	7	1284	c.819A>T	c.(817-819)ctA>ctT	p.L273L	PSMG1_ENST00000380900.2_Silent_p.L252L	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	273					proteasome assembly	endoplasmic reticulum	protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TCAATTTCTTTAGTATCTCAG	0.393											OREG0026220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	104					0	0	0	0	A	40547564	T	A	40547564	2	1	341	1	0	0	0	0	0	0	0	1	12790	1741	61	5		5	PSMG1	21	40547564	Silent	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	2431714	40547564	7582331	622	64503											
FAM3B	54097	broad.mit.edu	37	chr21	42717633	42717633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtaactgggaatgtgacaGcaacacgatgttttgatatg	13	12	11	5	1	0	2	0	2	0	0	0	4	0	3	0	1	3	3	0	1	4	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr21:42717633G>T	ENST00000398652.3	+	6	550	c.484G>T	c.(484-486)Gca>Tca	p.A162S	FAM3B_ENST00000398646.3_Missense_Mutation_p.A146S|FAM3B_ENST00000357985.2_Missense_Mutation_p.A123S|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Missense_Mutation_p.A75S			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	123					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GAATGTGACAGCAACACGATG	0.338													10	38					0.000442599	0.000465513	1	0	T	42717633	G	T	42717633	3	4	341	1	0	0	0	0	1	0	0	0	5604	971	34	4	385	4	FAM3B	21	42717633	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	2170069	42717633	5412262	623	64504											
RIPK4	54101	broad.mit.edu	37	chr21	43176869	43176870	+	Frame_Shift_Ins	INS	-	-	C																															ggagcccgtctccatgtactINSccatgaccaggccgacaggt																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr21:43176869_43176870insC	ENST00000352483.2	-	2	353_354	c.289_290insG	c.(289-291)gtafs	p.V97fs	RIPK4_ENST00000542057.1_Frame_Shift_Ins_p.V34fs|RIPK4_ENST00000332512.3_Frame_Shift_Ins_p.V97fs|RIPK4_ENST00000544709.1_Frame_Shift_Ins_p.V34fs			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	97						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						CTCCATGTACTCCATGACCAGG	0.569													18	64	---	---	---	---					C	43176870	-	C	43176869	7	5	341	1	0	1	1	0	0	0	0	0	13468	1551	54	0	2092	0	RIPK4	21	43176869	Frame_Shift_Ins	INS	-	TCGA-CV-A461-01A-41D-A25Y-08	459236	43176869	4953026	624	64505											
DIP2A	23181	broad.mit.edu	37	chr21	47918501	47918501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattttaaccacagacacgtCgtctgcctcagaagatgagg	12	10	9	10	2	2	4	1	1	1	3	3	4	2	4	2	1	2	0	2	1	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr21:47918501C>T	ENST00000318711.7	+	5	593	c.410C>T	c.(409-411)tCg>tTg	p.S137L	DIP2A_ENST00000435722.3_Missense_Mutation_p.S137L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S137L|DIP2A_ENST00000466639.1_Missense_Mutation_p.S137L|DIP2A_ENST00000417564.2_Missense_Mutation_p.S137L|DIP2A_ENST00000457905.3_Missense_Mutation_p.S137L|DIP2A_ENST00000427143.2_Missense_Mutation_p.S73L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	137					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACAGACACGTCGTCTGCCTCA	0.592													48	203					0	0	0	0	T	47918501	C	T	47918501	3	4	341	1	0	0	0	0	1	0	0	0	4564	893	31	1	428	1	DIP2A	21	47918501	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	4741632	47918501	211394	625	64506											
PI4KA	5297	broad.mit.edu	37	chr22	21106021	21106021	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtcttcagcacagtccCgctccagagcaagtggggaa	10	7	12	12	1	2	1	1	0	1	1	4	2	4	2	2	3	2	3	2	3	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr22:21106021C>A	ENST00000255882.6	-	26	3096	c.3010G>T	c.(3010-3012)Ggg>Tgg	p.G1004W	PI4KA_ENST00000572273.1_Missense_Mutation_p.G946W	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	946					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)			AGCACAGTCCCGCTCCAGAGC	0.607													13	45					0.0202918	0.0206394	1	0	A	21106021	C	A	21106021	3	1	341	1	0	0	0	0	1	0	0	0	11945	652	23	3	3418	3	PI4KA	22	21106021	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08		21106021	30198545	626	64507											
SNRPD3	6634	broad.mit.edu	37	chr22	24967993	24967993	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttttctttcaggttatctGagttcattggagtgggtgct	5	20	11	5	0	4	1	2	1	2	0	4	2	4	2	0	3	1	3	0	3	1	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr22:24967993G>C	ENST00000402849.1	+	4	410	c.327G>C	c.(325-327)ctG>ctC	p.L109L	SNRPD3_ENST00000215829.3_3'UTR			P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	0	Arg/Lys-rich (basic).				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						CAGGTTATCTGAGTTCATTGG	0.393													3	27					0	0	0	0	C	24967993	G	C	24967993	2	2	341	1	0	0	0	0	0	0	0	1	14954	1305	45	2		2	SNRPD3	22	24967993	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	3861972	24967993	26336573	627	64508											
CRYBB3	1417	broad.mit.edu	37	chr22	25601305	25601305	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttccaggaccgtgtggCgagtgtccgtgccatcaacg	6	9	14	12	4	1	0	1	0	0	0	3	2	3	1	4	3	2	1	4	3	1	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr22:25601305C>A	ENST00000215855.2	+	5	526	c.446C>A	c.(445-447)gCg>gAg	p.A149E	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	149	Beta/gamma crystallin 'Greek key' 3.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						GACCGTGTGGCGAGTGTCCGT	0.582													4	33					0.000602214	0.000631671	1	0	A	25601305	C	A	25601305	3	1	341	1	0	0	0	0	1	0	0	0	3942	768	27	3	460	3	CRYBB3	22	25601305	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	633312	25601305	25703261	628	64509											
MYO18B	84700	broad.mit.edu	37	chr22	26317307	26317307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgttgtcagacgtgcagctCcttctgggcaccatggagga	7	10	13	11	1	2	1	1	0	1	1	3	3	3	3	2	3	2	4	2	3	0	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr22:26317307C>T	ENST00000335473.7	+	34	5698	c.5448C>T	c.(5446-5448)ctC>ctT	p.L1816L	MYO18B_ENST00000407587.2_Silent_p.L1817L|MYO18B_ENST00000536101.1_Silent_p.L1816L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1816	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACGTGCAGCTCCTTCTGGGCA	0.557													4	5					0	0	0	0	T	26317307	C	T	26317307	2	4	341	1	0	0	0	0	0	0	0	1	10136	842	30	2		2	MYO18B	22	26317307	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	716002	26317307	24987259	629	64510											
NEFH	4744	broad.mit.edu	37	chr22	29885177	29885177	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccccagagaaggaagcCaagtcaccagtaaaggaaga	17	3	11	10	0	1	2	1	0	0	2	2	5	2	4	4	2	1	2	4	2	6	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr22:29885177C>A	ENST00000310624.6	+	4	1581	c.1548C>A	c.(1546-1548)gcC>gcA	p.A516A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	516	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGAAGGAAGCCAAGTCACCAG	0.557													13	48					7.93312e-07	9.07314e-07	1	0	A	29885177	C	A	29885177	2	1	341	1	0	0	0	0	0	0	0	1	10384	581	21	4		4	NEFH	22	29885177	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3567870	29885177	21419389	630	64511											
RFPL2	10739	broad.mit.edu	37	chr22	32588952	32588952	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgggctccagttcctTgatgtgggaagccagcctct	6	11	12	12	0	1	1	0	1	1	0	3	2	3	2	4	2	3	3	4	2	1	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr22:32588952T>G	ENST00000400236.3	-	4	1428	c.223A>C	c.(223-225)Aag>Cag	p.K75Q	RFPL2_ENST00000248983.4_Missense_Mutation_p.K75Q|RFPL2_ENST00000248980.4_Missense_Mutation_p.K104Q|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400237.1_Missense_Mutation_p.K165Q	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	165							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TCCAGTTCCTTGATGTGGGAA	0.537													34	130					0	0	0	0	G	32588952	T	G	32588952	3	3	341	1	0	0	0	0	1	0	0	0	13336	1821	63	5	651	5	RFPL2	22	32588952	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	2703775	32588952	18715614	631	64512											
CACNG2	10369	broad.mit.edu	37	chr22	36962528	36962528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggattgggaaaatgctggagGccctcacggcccctgtggaa	9	7	15	10	1	1	0	1	0	0	0	1	4	1	4	3	6	1	1	3	6	3	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr22:36962528G>A	ENST00000300105.6	-	3	1289	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	103					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AATGCTGGAGGCCCTCACGGC	0.572													13	59					0	0	0	0	A	36962528	G	A	36962528	3	1	341	1	0	0	0	0	1	0	0	0	2582	1203	42	4	671	4	CACNG2	22	36962528	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	4373576	36962528	14342038	632	64513											
TMEM184B	25829	broad.mit.edu	37	chr22	38621482	38621482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatgaagaacttgaggaCggggctgtaggggctgagca	11	6	17	7	1	0	4	0	3	0	1	0	6	0	5	1	5	2	4	1	5	3	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr22:38621482C>T	ENST00000361906.3	-	7	944	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	TMEM184B_ENST00000361684.4_Missense_Mutation_p.V246I	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	246						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					AACTTGAGGACGGGGCTGTAG	0.592													14	66					0	0	0	0	T	38621482	C	T	38621482	3	4	341	1	0	0	0	0	1	0	0	0	16199	536	19	1	499	1	TMEM184B	22	38621482	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1658954	38621482	12683084	633	64514											
APOBEC3C	27350	broad.mit.edu	37	chr22	39414289	39414289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagattttaaatattgttGggaaaactttgtgtacaatg	13	16	8	4	0	1	1	1	0	0	1	1	2	1	2	0	1	2	2	0	1	7	7			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr22:39414289G>C	ENST00000361441.3	+	4	750	c.470G>C	c.(469-471)tGg>tCg	p.W157S	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	157					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					AAATATTGTTGGGAAAACTTT	0.478													63	274					0	0	0	0	C	39414289	G	C	39414289	3	2	341	1	0	0	0	0	1	0	0	0	793	1357	47	4	484	4	APOBEC3C	22	39414289	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	792807	39414289	11890277	634	64515											
ZBED4	9889	broad.mit.edu	37	chr22	50280806	50280806	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgaaagtgaatcttcccTtaatatactttcagtattga	12	18	5	6	0	2	3	1	3	1	0	3	3	3	3	1	0	1	1	1	0	6	9			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chr22:50280806T>G	ENST00000216268.4	+	2	3973	c.3496T>G	c.(3496-3498)Tta>Gta	p.L1166V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1166						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GAATCTTCCCTTAATATACTT	0.483													17	58					0	0	0	0	G	50280806	T	G	50280806	3	3	341	1	0	0	0	0	1	0	0	0	17615	1606	56	5	3498	5	ZBED4	22	50280806	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	10866517	50280806	1023760	635	64516											
ACE2	59272	broad.mit.edu	37	chrX	15619008	15619008	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagttacagcaacaaggctGagaaggagccaggaagagct	15	4	14	8	0	0	2	0	1	0	2	0	5	0	4	1	3	5	5	1	3	5	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:15619008G>A	ENST00000427411.1	-	2	243	c.27C>T	c.(25-27)ctC>ctT	p.L9L	ACE2_ENST00000252519.3_Silent_p.L9L	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	9					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CAACAAGGCTGAGAAGGAGCC	0.468													25	37					0	0	0	0	A	15619008	G	A	15619008	2	1	341	1	0	0	0	0	0	0	0	1	137	1277	45	2		2	ACE2	23	15619008	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08		15619008	139651552	636	64517											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998283	27998283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacgcaggtgatgtttgttGggaaatcacaataaaccaga	15	9	10	7	1	1	2	1	1	0	1	1	3	1	3	1	2	2	3	1	2	5	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:27998283G>T	ENST00000441525.1	-	1	1283	c.1169C>A	c.(1168-1170)cCa>cAa	p.P390Q		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	390										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GATGTTTGTTGGGAAATCACA	0.413													34	38					1.26612e-14	1.70286e-14	1	0	T	27998283	G	T	27998283	3	4	341	1	0	0	0	0	1	0	0	0	4310	1348	47	4	637	4	DCAF8L1	23	27998283	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	12379275	27998283	127272277	637	64518											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29973894	29973894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaacagtgccatcctgcCgctgttgccaagggagacca	11	6	10	14	1	0	1	0	0	0	1	1	2	1	1	5	1	4	2	5	1	2	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:29973894C>T	ENST00000378993.1	+	11	2721	c.2048C>T	c.(2047-2049)cCg>cTg	p.P683L	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.P683L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	683					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCCATCCTGCCGCTGTTGCCA	0.537													11	12					0	0	0	0	T	29973894	C	T	29973894	3	4	341	1	0	0	0	0	1	0	0	0	7714	652	23	1	2086	1	IL1RAPL1	23	29973894	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1975611	29973894	125296666	638	64519											
DMD	1756	broad.mit.edu	37	chrX	32398774	32398774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaatttcaagcatttctcCaactgttgctttctttctgt	8	18	5	10	0	4	0	1	0	3	0	5	1	4	0	1	0	3	3	1	0	3	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:32398774C>A	ENST00000357033.4	-	34	4904	c.4698G>T	c.(4696-4698)ttG>ttT	p.L1566F	DMD_ENST00000378677.2_Missense_Mutation_p.L1562F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1566	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGCATTTCTCCAACTGTTGCT	0.338													45	56					1.5731e-28	2.40007e-28	1	0	A	32398774	C	A	32398774	3	1	341	1	0	0	0	0	1	0	0	0	4617	593	21	4	6691	4	DMD	23	32398774	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	2424880	32398774	122871786	639	64520											
FAM47A	158724	broad.mit.edu	37	chrX	34148158	34148158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaggcatttcatagccCttgcttagaatgaaatcctt	11	13	7	10	0	1	2	1	1	0	1	2	2	2	2	3	1	3	2	3	1	4	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:34148158C>A	ENST00000346193.3	-	1	2289	c.2238G>T	c.(2236-2238)aaG>aaT	p.K746N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	746								p.K746N(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTTCATAGCCCTTGCTTAGAA	0.413													36	67					1.06647e-15	1.4495e-15	1	0	A	34148158	C	A	34148158	3	1	341	1	0	0	0	0	1	0	0	0	5616	680	24	4	141	4	FAM47A	23	34148158	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1749384	34148158	121122402	640	64521											
TFE3	7030	broad.mit.edu	37	chrX	48891649	48891649	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagaccctatcacctacCagagatctcccgtttgatgt	10	10	7	14	1	2	3	1	1	1	2	3	4	2	3	5	0	1	1	5	0	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:48891649C>A	ENST00000315869.7	-	6	1262	c.1003_splice	c.e6+1	p.E335_splice	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	335					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.E335K(2)|p.?(2)	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TATCACCTACCAGAGATCTCC	0.562			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								14	13					3.27435e-08	3.87699e-08	1	0	A	48891649	C	A	48891649	5	1	341	1	0	0	0	0	0	0	1	0	15894	608	21	4	744	4	TFE3	23	48891649	Splice_Site	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	14743491	48891649	106378911	641	64522											
SPIN3	169981	broad.mit.edu	37	chrX	57021177	57021177	+	Frame_Shift_Del	DEL	C	C	-																															tgatccagaacggttcctttCcactgtgttagaggttcatc																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:57021177delC	ENST00000374919.3	-	2	526	c.204delG	c.(202-204)tgfs	p.W68fs		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	68					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						CGGTTCCTTTCCACTGTGTTA	0.478													63	110	---	---	---	---					-	57021177	C	-	57021177	7	5	341	1	0	1	0	1	0	0	0	0	15145	856	30	0	576	0	SPIN3	23	57021177	Frame_Shift_Del	DEL	C	TCGA-CV-A461-01A-41D-A25Y-08	8129528	57021177	98249383	642	64523											
HEPH	9843	broad.mit.edu	37	chrX	65390434	65390434	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcaggccacctcctcTgggctctgctgttcatgcag	5	11	12	13	0	4	0	2	0	2	0	5	1	5	1	3	3	2	4	3	3	0	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:65390434T>C	ENST00000519389.1	+	2	363	c.184T>C	c.(184-186)Tgg>Cgg	p.W62R	HEPH_ENST00000374727.3_Missense_Mutation_p.W11R|HEPH_ENST00000343002.2_Missense_Mutation_p.W8R|HEPH_ENST00000441993.2_Missense_Mutation_p.W11R|HEPH_ENST00000419594.1_Missense_Mutation_p.W11R|HEPH_ENST00000336279.5_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	8	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCACCTCCTCTGGGCTCTGCT	0.527													12	13					0	0	0	0	C	65390434	T	C	65390434	3	2	341	1	0	0	0	0	1	0	0	0	7104	1580	55	5	190	5	HEPH	23	65390434	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	8369257	65390434	89880126	643	64524											
ITGB1BP2	26548	broad.mit.edu	37	chrX	70523727	70523727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcattcttggcacaaccagGgtgcagagtcggtagacatg	10	8	14	9	1	1	2	0	0	1	2	2	2	1	2	1	4	2	4	1	4	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:70523727G>T	ENST00000538820.1	+	7	891	c.551G>T	c.(550-552)gGg>gTg	p.G184V	ITGB1BP2_ENST00000465388.1_3'UTR|ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.G202V			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	202	CHORD 2.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					GCACAACCAGGGTGCAGAGTC	0.488													7	11					0.000157383	0.00016875	1	0	T	70523727	G	T	70523727	3	4	341	1	0	0	0	0	1	0	0	0	7945	1232	43	4	635	4	ITGB1BP2	23	70523727	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	5133293	70523727	84746833	644	64525											
KLHL4	56062	broad.mit.edu	37	chrX	86873048	86873048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctcataaagcagctccatCcttcaaactgcttagggatt	11	13	6	11	0	2	0	2	0	1	0	5	1	4	1	2	1	4	3	2	1	4	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:86873048C>T	ENST00000373119.4	+	4	986	c.841C>T	c.(841-843)Cct>Tct	p.P281S	KLHL4_ENST00000373114.4_Missense_Mutation_p.P281S	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	281						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCAGCTCCATCCTTCAAACTG	0.428													20	28					0	0	0	0	T	86873048	C	T	86873048	3	4	341	1	0	0	0	0	1	0	0	0	8443	855	30	2	855	2	KLHL4	23	86873048	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	16349321	86873048	68397512	645	64526											
DRP2	1821	broad.mit.edu	37	chrX	100492623	100492623	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcgctcgcctagaggcCttctcagaccacagtggaaa	10	7	11	13	2	1	2	1	0	1	2	3	3	1	3	3	2	2	2	3	2	2	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:100492623C>A	ENST00000395209.3	+	5	824	c.297C>A	c.(295-297)gcC>gcA	p.A99A	DRP2_ENST00000402866.1_Silent_p.A99A|DRP2_ENST00000541709.1_Silent_p.A21A|DRP2_ENST00000538510.1_Silent_p.A99A	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	99					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GCCTAGAGGCCTTCTCAGACC	0.448													13	104					5.50884e-06	6.17246e-06	1	0	A	100492623	C	A	100492623	2	1	341	1	0	0	0	0	0	0	0	1	4800	668	24	4		4	DRP2	23	100492623	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	13619575	100492623	54777937	646	64527											
COL4A5	1287	broad.mit.edu	37	chrX	107923960	107923960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaaggagatcctggtctcCctggtgttccaggattccca	8	11	11	11	0	1	2	0	1	1	1	5	4	4	3	4	4	0	1	4	4	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:107923960C>T	ENST00000328300.6	+	45	4238	c.3994C>T	c.(3994-3996)Cct>Tct	p.P1332S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1326S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1326	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCTGGTCTCCCTGGTGTTCC	0.433									Alport syndrome with Diffuse Leiomyomatosis				29	37					0	0	0	0	T	107923960	C	T	107923960	3	4	341	1	0	0	0	0	1	0	0	0	3724	623	22	4	4157	4	COL4A5	23	107923960	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	7431337	107923960	47346600	647	64528											
AMOT	154796	broad.mit.edu	37	chrX	112022393	112022393	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgagtctgagcaggagCagaagcctgagccgctgctg	8	7	15	11	1	1	4	0	3	1	1	1	5	1	5	3	1	6	4	3	1	1	0			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:112022393C>G	ENST00000371959.3	-	10	2988	c.2989G>C	c.(2989-2991)Gct>Cct	p.A997P	AMOT_ENST00000524145.1_Missense_Mutation_p.A997P|AMOT_ENST00000371962.1_Missense_Mutation_p.A765P|AMOT_ENST00000304758.1_Missense_Mutation_p.A588P	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	997					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TGAGCAGGAGCAGAAGCCTGA	0.622													21	30					0	0	0	0	G	112022393	C	G	112022393	3	3	341	1	0	0	0	0	1	0	0	0	582	710	25	4	273	4	AMOT	23	112022393	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	4098433	112022393	43248167	648	64529											
DOCK11	139818	broad.mit.edu	37	chrX	117727280	117727280	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggaacaaccaaaaagcAagacacagttgaaactccag	21	3	8	9	0	0	2	0	1	0	1	1	3	1	3	2	1	4	2	2	1	7	1			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:117727280A>C	ENST00000276204.6	+	20	2317	c.2243A>C	c.(2242-2244)cAa>cCa	p.Q748P	DOCK11_ENST00000276202.7_Missense_Mutation_p.Q748P			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	748	DHR-1.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ACCAAAAAGCAAGACACAGTT	0.358													25	30					0	0	0	0	C	117727280	A	C	117727280	3	2	341	1	0	0	0	0	1	0	0	0	4722	130	5	5	2321	5	DOCK11	23	117727280	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	5704887	117727280	37543280	649	64530											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686073	125686073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcagctggtagatggccagGctgttggggttttcgccgcc	4	10	17	10	2	0	1	0	0	0	1	1	1	0	1	3	6	1	6	3	6	1	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:125686073G>C	ENST00000371126.1	-	1	761	c.519C>G	c.(517-519)agC>agG	p.S173R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	173										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGATGGCCAGGCTGTTGGGGT	0.662													20	27					0	0	0	0	C	125686073	G	C	125686073	3	2	341	1	0	0	0	0	1	0	0	0	4297	1194	42	4	876	4	DCAF12L1	23	125686073	Missense_Mutation	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	7958793	125686073	29584487	650	64531											
OCRL	4952	broad.mit.edu	37	chrX	128724193	128724193	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacagactccaagtgaccgCcagcgtgctattcagttcct	10	9	9	13	2	1	3	1	1	0	2	3	3	3	3	4	0	2	2	4	0	2	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:128724193C>T	ENST00000371113.4	+	24	2817	c.2652C>T	c.(2650-2652)cgC>cgT	p.R884R	OCRL_ENST00000357121.5_Silent_p.R876R	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	884	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAAGTGACCGCCAGCGTGCTA	0.498													72	98					0	0	0	0	T	128724193	C	T	128724193	2	4	341	1	0	0	0	0	0	0	0	1	10894	726	26	4		4	OCRL	23	128724193	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	3038120	128724193	26546367	651	64532											
GPR112	139378	broad.mit.edu	37	chrX	135431833	135431833	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggaccacactcccaTcaattctttctggtgccact	7	12	6	16	0	3	0	1	0	2	0	5	1	5	1	4	2	1	0	4	2	1	2			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:135431833T>A	ENST00000394143.1	+	6	6259	c.5968T>A	c.(5968-5970)Tca>Aca	p.S1990T	GPR112_ENST00000370652.1_Missense_Mutation_p.S1990T|GPR112_ENST00000287534.4_Missense_Mutation_p.S1927T|GPR112_ENST00000412101.1_Missense_Mutation_p.S1785T|GPR112_ENST00000394141.1_Missense_Mutation_p.S1785T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1990					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACACTCCCATCAATTCTTTC	0.448													35	66					0	0	0	0	A	135431833	T	A	135431833	3	1	341	1	0	0	0	0	1	0	0	0	6678	1435	50	5	5978	5	GPR112	23	135431833	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	6707640	135431833	19838727	652	64533											
MAGEC1	9947	broad.mit.edu	37	chrX	140994339	140994339	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcccctccttctcctcCactttactgagtcttttcca	5	14	6	16	0	2	1	0	1	2	0	6	2	5	2	6	1	2	0	6	1	1	5			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:140994339C>A	ENST00000285879.4	+	4	1435	c.1149C>A	c.(1147-1149)tcC>tcA	p.S383S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	383							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTCTCCTCCACTTTACTGA	0.483										HNSCC(15;0.026)			50	112					4.0306e-16	5.50729e-16	1	0	A	140994339	C	A	140994339	2	1	341	1	0	0	0	0	0	0	0	1	9249	581	21	4		4	MAGEC1	23	140994339	Silent	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	5562506	140994339	14276221	653	64534											
SLITRK4	139065	broad.mit.edu	37	chrX	142718630	142718630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaagaaaggctcctccctCaatgttctgcagtttattat	10	13	6	12	0	2	1	1	0	1	1	4	1	4	1	3	1	1	4	3	1	5	4			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:142718630C>T	ENST00000381779.4	-	2	520	c.295G>A	c.(295-297)Gag>Aag	p.E99K	SLITRK4_ENST00000356928.1_Missense_Mutation_p.E99K|SLITRK4_ENST00000338017.4_Missense_Mutation_p.E99K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	99						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)					GCTCCTCCCTCAATGTTCTGC	0.373													51	78					0	0	0	0	T	142718630	C	T	142718630	3	4	341	1	0	0	0	0	1	0	0	0	14833	835	29	2	2222	2	SLITRK4	23	142718630	Missense_Mutation	SNP	C	TCGA-CV-A461-01A-41D-A25Y-08	1724291	142718630	12551930	654	64535											
MAGEA10	4109	broad.mit.edu	37	chrX	151303039	151303039	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttgcactggccatggcagTagtatcatctgtggtggcaa	9	11	12	9	0	2	0	1	0	1	0	2	0	2	0	1	4	1	5	1	4	3	3			TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:151303039T>A	ENST00000370323.4	-	4	1370	c.1054A>T	c.(1054-1056)Act>Tct	p.T352S	MAGEA10_ENST00000244096.3_Missense_Mutation_p.T352S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	352										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCCATGGCAGTAGTATCATCT	0.453													65	75					0	0	0	0	A	151303039	T	A	151303039	3	1	341	1	0	0	0	0	1	0	0	0	9229	1638	57	5	59	5	MAGEA10	23	151303039	Missense_Mutation	SNP	T	TCGA-CV-A461-01A-41D-A25Y-08	8584409	151303039	3967521	655	64536											
MAGEA3	4102	broad.mit.edu	37	chrX	151935917	151935917	+	Missense_Mutation	SNP	A	A	T																															ttggttgctggagtcctcatAggattggctccagagagggt																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:151935917A>T	ENST00000393902.3	-	3	817	c.250T>A	c.(250-252)Tat>Aat	p.Y84N	MAGEA3_ENST00000370278.3_Missense_Mutation_p.Y84N			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	84										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCCTCATAGGATTGGCTC	0.607													35	31					0	0	0	0	T	151935917	A	T	151935917	3	4	341	1	0	0	0	0	1	0	0	0	9234	420	15	5	698	5	MAGEA3	23	151935917	Missense_Mutation	SNP	A	TCGA-CV-A461-01A-41D-A25Y-08	632878	151935917	3334643	656	64537	776	2									
MAGEA3	4102	broad.mit.edu	37	chrX	151935918	151935918	+	Silent	SNP	G	G	T																															tggttgctggagtcctcataGgattggctccagagagggta																										TCGA-CV-A461-01A-41D-A25Y-08	TCGA-CV-A461-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546336D7-D79A-415F-A3D4-15C706B425E9	94DF0B0F-8997-49EF-9AC2-8A31698AA389	g.chrX:151935918G>T	ENST00000393902.3	-	3	816	c.249C>A	c.(247-249)tcC>tcA	p.S83S	MAGEA3_ENST00000370278.3_Silent_p.S83S			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	83										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCCTCATAGGATTGGCTCC	0.607													34	31					4.14481e-20	5.98092e-20	1	0	T	151935918	G	T	151935918	2	4	341	1	0	0	0	0	0	0	0	1	9234	987	35	4		4	MAGEA3	23	151935918	Silent	SNP	G	TCGA-CV-A461-01A-41D-A25Y-08	1	151935918	3334642	657	64538	776	2									
CCDC27	148870	broad.mit.edu	37	chr1	3680321	3680321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttccaagaaacccagctgcGaaagatcaatacggaaaatg	17	7	8	9	2	1	2	1	0	0	2	2	4	2	3	2	1	4	1	2	1	7	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:3680321G>A	ENST00000294600.2	+	8	1457	c.1373G>A	c.(1372-1374)cGa>cAa	p.R458Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	458								p.R458Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACCCAGCTGCGAAAGATCAAT	0.567													26	65					0	0	0	0	A	3680321	G	A	3680321	3	1	342	1	0	0	0	0	1	0	0	0	2827	1058	37	1	1403	1	CCDC27	1	3680321	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08		3680321	245570300	1	64539											
FBXO44	93611	broad.mit.edu	37	chr1	11716049	11716049	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggaaacgcaagtgcctgCgagagggcttcatcactgag	10	8	13	10	2	3	2	2	1	1	1	3	4	3	3	1	2	3	2	1	2	2	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:11716049C>T	ENST00000376770.1	+	3	655	c.157C>T	c.(157-159)Cga>Tga	p.R53*	FBXO44_ENST00000376760.1_Nonsense_Mutation_p.R53*|FBXO44_ENST00000376762.4_Nonsense_Mutation_p.R53*|FBXO44_ENST00000376768.1_Nonsense_Mutation_p.R53*|FBXO44_ENST00000251546.4_Nonsense_Mutation_p.R53*|FBXO44_ENST00000251547.5_Nonsense_Mutation_p.R53*	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	53					protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGTGCCTGCGAGAGGGCTT	0.637													27	96					0	0	0	0	T	11716049	C	T	11716049	4	4	342	1	0	0	0	0	0	1	0	0	5798	760	27	1	159	1	FBXO44	1	11716049	Nonsense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	8035728	11716049	237534572	2	64540											
VPS13D	55187	broad.mit.edu	37	chr1	12395847	12395847	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagctaaatcagaagactgGatgggctcttcggtggatcc	10	10	12	9	1	3	2	2	0	1	2	5	4	4	4	1	4	1	2	1	4	3	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:12395847G>A	ENST00000358136.3	+	39	8644	c.8514G>A	c.(8512-8514)tgG>tgA	p.W2838*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.W2838*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2838					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGAAGACTGGATGGGCTCTT	0.408													32	70					0	0	0	0	A	12395847	G	A	12395847	4	1	342	1	0	0	0	0	0	1	0	0	17288	1183	41	2	8664	2	VPS13D	1	12395847	Nonsense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	679798	12395847	236854774	3	64541											
SPEN	23013	broad.mit.edu	37	chr1	16258569	16258569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaggaggctgcagcggttcCcaccacccctcggaggggaa	8	5	14	14	2	1	0	1	0	0	0	3	3	2	3	4	6	2	3	4	6	1	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:16258569C>T	ENST00000375759.3	+	11	6038	c.5834C>T	c.(5833-5835)cCc>cTc	p.P1945L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1945					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCAGCGGTTCCCACCACCCCT	0.587													20	70					0	0	0	0	T	16258569	C	T	16258569	3	4	342	1	0	0	0	0	1	0	0	0	15128	623	22	4	5876	4	SPEN	1	16258569	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	3862722	16258569	232992052	4	64542											
C1orf64	149563	broad.mit.edu	37	chr1	16332641	16332641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgggtgggggatgccttGcccaggccagggccaccctg	5	6	16	14	0	0	0	0	0	0	0	0	1	0	1	6	5	2	0	6	5	0	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:16332641G>T	ENST00000329454.2	+	2	378	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S		NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	104										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GGGATGCCTTGCCCAGGCCAG	0.647													35	66					4.34311e-12	4.56182e-12	1	0	T	16332641	G	T	16332641	3	4	342	1	0	0	0	0	1	0	0	0	2074	1319	46	4	316	4	C1orf64	1	16332641	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	74072	16332641	232917980	5	64543											
GJA4	2701	broad.mit.edu	37	chr1	35260555	35260555	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcacggcaaggccaagaCgcacccccgacccagggcac	11	0	13	17	3	0	1	0	0	0	1	0	2	0	1	4	4	0	4	4	4	2	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:35260555C>T	ENST00000342280.4	+	2	829	c.741C>T	c.(739-741)gaC>gaT	p.D247D		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	247					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AAGGCCAAGACGCACCCCCGA	0.652													8	31					0	0	0	0	T	35260555	C	T	35260555	2	4	342	1	0	0	0	0	0	0	0	1	6454	535	19	1		1	GJA4	1	35260555	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	18927914	35260555	213990066	6	64544											
DMBX1	127343	broad.mit.edu	37	chr1	46977984	46977984	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccagtcctactaccagTccctgtcagcagccgctgct	7	9	8	17	1	1	0	1	0	0	0	3	0	3	0	5	0	6	3	5	0	2	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:46977984T>C	ENST00000371956.4	+	4	982	c.967T>C	c.(967-969)Tcc>Ccc	p.S323P	DMBX1_ENST00000360032.3_Missense_Mutation_p.S318P	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	323					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTACTACCAGTCCCTGTCAGC	0.687													14	30					0	0	0	0	C	46977984	T	C	46977984	3	2	342	1	0	0	0	0	1	0	0	0	4615	1667	58	5	981	5	DMBX1	1	46977984	Missense_Mutation	SNP	T	TCGA-CV-A463-01A-11D-A25Y-08	11717429	46977984	202272637	7	64545											
PRPF38A	84950	broad.mit.edu	37	chr1	52882357	52882357	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagagccggagagggaatGagtaatggactcagtttggt	13	8	16	4	1	1	4	1	1	0	3	1	7	1	6	1	4	1	2	1	4	3	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:52882357G>T	ENST00000257181.9	+	10	1120	c.934G>T	c.(934-936)Gag>Tag	p.E312*	PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	312					mRNA processing|RNA splicing	spliceosomal complex				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GAGAGGGAATGAGTAATGGAC	0.448													8	44					0.000442599	0.000448747	1	0	T	52882357	G	T	52882357	4	4	342	1	0	0	0	0	0	1	0	0	12647	1291	45	2	972	2	PRPF38A	1	52882357	Nonsense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	5904373	52882357	196368264	8	64546											
ECHDC2	55268	broad.mit.edu	37	chr1	53377397	53377397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcccgccctttcttacctCactgacgaagacattcccca	8	9	6	18	3	2	2	1	1	1	1	3	3	3	2	5	0	1	0	5	0	2	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:53377397C>T	ENST00000536120.1	-	5	866	c.49G>A	c.(49-51)Gag>Aag	p.E17K	ECHDC2_ENST00000541281.1_Missense_Mutation_p.E17K|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000371522.4_Missense_Mutation_p.E63K|ECHDC2_ENST00000358358.5_Missense_Mutation_p.E63K			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	63					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TTTCTTACCTCACTGACGAAG	0.587													24	56					0	0	0	0	T	53377397	C	T	53377397	3	4	342	1	0	0	0	0	1	0	0	0	4930	835	29	2	630	2	ECHDC2	1	53377397	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	495040	53377397	195873224	9	64547											
CPT2	1376	broad.mit.edu	37	chr1	53676523	53676523	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtatttaaagacagcactCagacccctgccgtcactcca	13	8	6	14	1	2	2	2	0	0	2	3	2	3	2	4	0	2	2	4	0	4	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:53676523C>T	ENST00000371486.3	+	4	1692	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	393					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AGACAGCACTCAGACCCCTGC	0.507													9	21					0	0	0	0	T	53676523	C	T	53676523	4	4	342	1	0	0	0	0	0	1	0	0	3864	827	29	2	1191	2	CPT2	1	53676523	Nonsense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	299126	53676523	195574098	10	64548											
C1orf87	127795	broad.mit.edu	37	chr1	60463440	60463440	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggatctttgcaggctgAagtttcagcaggagagcttt	10	11	13	7	0	2	3	1	1	1	2	2	5	2	4	0	3	3	5	0	3	1	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:60463440A>T	ENST00000371201.3	-	11	1428	c.1321T>A	c.(1321-1323)Tca>Aca	p.S441T	C1orf87_ENST00000395552.1_Missense_Mutation_p.S75T|C1orf87_ENST00000450089.2_Missense_Mutation_p.S212T|C1orf87_ENST00000486478.1_5'UTR	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	441							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTGCAGGCTGAAGTTTCAGCA	0.493													21	29					0	0	0	0	T	60463440	A	T	60463440	3	4	342	1	0	0	0	0	1	0	0	0	2084	246	9	5	327	5	C1orf87	1	60463440	Missense_Mutation	SNP	A	TCGA-CV-A463-01A-11D-A25Y-08	6786917	60463440	188787181	11	64549											
USP33	23032	broad.mit.edu	37	chr1	78183639	78183639	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttagcaagaaatggctgaaGatccaagccttctagcggaa	14	8	10	9	1	1	3	0	1	1	2	2	4	2	4	2	2	3	2	2	2	7	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:78183639G>C	ENST00000370793.1	-	18	2270	c.1924C>G	c.(1924-1926)Ctt>Gtt	p.L642V	USP33_ENST00000370794.3_Missense_Mutation_p.L611V|USP33_ENST00000370792.3_Missense_Mutation_p.L634V|USP33_ENST00000357428.1_Missense_Mutation_p.L642V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	642					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AATGGCTGAAGATCCAAGCCT	0.378													44	112					0	0	0	0	C	78183639	G	C	78183639	3	2	342	1	0	0	0	0	1	0	0	0	17160	942	33	2	948	2	USP33	1	78183639	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	17720199	78183639	171066982	12	64550											
EPHX4	253152	broad.mit.edu	37	chr1	92518079	92518079	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaattaggttttgaaacatCtgtttaccagtcacagcact	13	14	6	8	0	2	1	1	1	1	0	2	1	2	1	1	1	3	3	1	1	5	6			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:92518079C>T	ENST00000370383.4	+	6	819	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	241						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TTTGAAACATCTGTTTACCAG	0.348													11	23					0	0	0	0	T	92518079	C	T	92518079	2	4	342	1	0	0	0	0	0	0	0	1	5220	912	32	2		2	EPHX4	1	92518079	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	14334440	92518079	156732542	13	64551											
GLMN	11146	broad.mit.edu	37	chr1	92763077	92763077	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttaaagtcttgctcttCtaggatttgctggcaaaaaa	11	16	7	7	0	4	0	0	0	4	0	4	1	4	1	0	2	2	3	0	2	6	7			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:92763077C>G	ENST00000370360.3	-	3	130	c.49G>C	c.(49-51)Gaa>Caa	p.E17Q	GLMN_ENST00000534881.1_Missense_Mutation_p.E17Q	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	17					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCTTGCTCTTCTAGGATTTGC	0.303									Multiple Glomus Tumors (of the Skin), Familial				42	122					0	0	0	0	G	92763077	C	G	92763077	3	3	342	1	0	0	0	0	1	0	0	0	6499	922	32	2	1803	2	GLMN	1	92763077	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	244998	92763077	156487544	14	64552											
ATXN7L2	127002	broad.mit.edu	37	chr1	110033563	110033563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagatcccaccggcagctGaacctccagctcaccttgtc	9	7	9	16	1	1	2	1	1	0	1	4	3	3	3	5	2	3	3	5	2	2	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:110033563G>A	ENST00000369870.3	+	10	1393	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	460										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACCGGCAGCTGAACCTCCAGC	0.577											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	84					0	0	0	0	A	110033563	G	A	110033563	3	1	342	1	0	0	0	0	1	0	0	0	1221	1291	45	2	1416	2	ATXN7L2	1	110033563	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	17270486	110033563	139217058	15	64553											
ATXN7L2	127002	broad.mit.edu	37	chr1	110034336	110034336	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggagaagtgctctacactGaaggtaccagccaggctccc	11	6	12	12	0	1	2	0	1	1	1	2	4	2	2	3	3	4	3	3	3	4	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:110034336G>A	ENST00000369870.3	+	10	2166	c.2151G>A	c.(2149-2151)ctG>ctA	p.L717L	ATXN7L2_ENST00000459635.1_3'UTR	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	717										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCTCTACACTGAAGGTACCAG	0.592													3	17					0	0	0	0	A	110034336	G	A	110034336	2	1	342	1	0	0	0	0	0	0	0	1	1221	1277	45	2		2	ATXN7L2	1	110034336	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	773	110034336	139216285	16	64554											
KCNA3	3738	broad.mit.edu	37	chr1	111217012	111217012	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactcgttgcggagcgggtcGaagtacctcatgcgccgctt	6	10	13	12	6	1	0	1	0	0	0	3	2	1	1	2	2	5	3	2	2	3	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:111217012G>A	ENST00000369769.2	-	1	643	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	140						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGCGGGTCGAAGTACCTCA	0.642													27	82					0	0	0	0	A	111217012	G	A	111217012	2	1	342	1	0	0	0	0	0	0	0	1	8057	1049	37	1		1	KCNA3	1	111217012	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	1182676	111217012	138033609	17	64555											
PRPF3	9129	broad.mit.edu	37	chr1	150300866	150300866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttgaggaggtggaagaaGagccagaggtgatccctggg	10	8	18	5	0	0	5	0	2	0	3	1	7	1	7	2	5	1	1	2	5	2	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:150300866G>A	ENST00000324862.6	+	4	529	c.364G>A	c.(364-366)Gag>Aag	p.E122K	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Intron|PRPF3_ENST00000543398.1_5'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	122					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GGTGGAAGAAGAGCCAGAGGT	0.498													44	136					0	0	0	0	A	150300866	G	A	150300866	3	1	342	1	0	0	0	0	1	0	0	0	12645	943	33	2	374	2	PRPF3	1	150300866	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	39083854	150300866	98949755	18	64556											
CTSK	1513	broad.mit.edu	37	chr1	150778461	150778461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagacaggggtactttgagtCcagtcatcttctgaaccacc	10	10	10	11	0	3	3	1	2	2	1	4	4	4	3	3	2	2	1	3	2	2	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:150778461C>G	ENST00000271651.3	-	4	385	c.275G>C	c.(274-276)gGa>gCa	p.G92A	CTSK_ENST00000480670.1_5'UTR	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	92					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TACTTTGAGTCCAGTCATCTT	0.493													27	76					0	0	0	0	G	150778461	C	G	150778461	3	3	342	1	0	0	0	0	1	0	0	0	4069	855	30	2	734	2	CTSK	1	150778461	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	477595	150778461	98472160	19	64557											
RPTN	126638	broad.mit.edu	37	chr1	152129040	152129040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactgattgtggtgagaatCtctgtcttgtctctcaggct	7	15	11	8	0	4	3	1	2	3	2	6	4	4	3	0	2	0	1	0	2	1	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:152129040C>T	ENST00000316073.3	-	3	599	c.535G>A	c.(535-537)Gat>Aat	p.D179N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	179	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGGTGAGAATCTCTGTCTTGT	0.468													32	305					0	0	0	0	T	152129040	C	T	152129040	3	4	342	1	0	0	0	0	1	0	0	0	13749	913	32	2	1823	2	RPTN	1	152129040	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	1350579	152129040	97121581	20	64558											
FLG2	388698	broad.mit.edu	37	chr1	152328434	152328434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactgacctgatctagactCatgttgtccaaagccagagg	12	9	10	10	0	2	5	1	2	1	3	3	5	3	5	3	1	1	1	3	1	2	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:152328434C>T	ENST00000388718.5	-	3	1900	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	610	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCTAGACTCATGTTGTCCA	0.512													20	295					0	0	0	0	T	152328434	C	T	152328434	3	4	342	1	0	0	0	0	1	0	0	0	5968	835	29	2	5351	2	FLG2	1	152328434	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	199394	152328434	96922187	21	64559											
ATP8B2	57198	broad.mit.edu	37	chr1	154319226	154319226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtttcccaaccagttccGgtttgtgggtaagtccccgt	6	13	10	12	2	0	0	0	0	0	0	3	0	3	0	5	2	1	4	5	2	2	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:154319226G>A	ENST00000368489.3	+	26	3254	c.3254G>A	c.(3253-3255)cGg>cAg	p.R1085Q		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1071					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AACCAGTTCCGGTTTGTGGGT	0.493													30	86					0	0	0	0	A	154319226	G	A	154319226	3	1	342	1	0	0	0	0	1	0	0	0	1199	1116	39	1	3486	1	ATP8B2	1	154319226	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	1990792	154319226	94931395	22	64560											
VANGL2	57216	broad.mit.edu	37	chr1	160389070	160389070	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtcgccttcaagctgctCatcctgctactgggcagctg	5	12	10	14	1	3	0	2	0	1	0	5	0	4	0	2	1	5	5	2	1	2	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:160389070C>T	ENST00000368061.2	+	4	945	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	157					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAAGCTGCTCATCCTGCTAC	0.657													24	67					0	0	0	0	T	160389070	C	T	160389070	2	4	342	1	0	0	0	0	0	0	0	1	17216	813	29	2		2	VANGL2	1	160389070	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	6069844	160389070	88861551	23	64561											
USF1	7391	broad.mit.edu	37	chr1	161010637	161010637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccctgcgtttctcatcccGagtcgtccggggagcttctg	4	11	12	14	4	2	0	1	0	2	0	6	2	4	1	3	2	3	2	3	2	0	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:161010637G>A	ENST00000368021.3	-	8	790	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	USF1_ENST00000368019.1_Missense_Mutation_p.R168W|USF1_ENST00000368020.1_Missense_Mutation_p.R196W|USF1_ENST00000435396.1_Missense_Mutation_p.R137W	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	196					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TTCTCATCCCGAGTCGTCCGG	0.502													25	49					0	0	0	0	A	161010637	G	A	161010637	3	1	342	1	0	0	0	0	1	0	0	0	17128	1057	37	1	362	1	USF1	1	161010637	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	621567	161010637	88239984	24	64562											
GPR161	23432	broad.mit.edu	37	chr1	168054805	168054805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctaaaacatctccttcttcGatgctctgcaactgcagcct	9	12	6	14	1	3	0	0	0	3	0	5	1	3	0	2	0	6	4	2	0	3	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:168054805G>A	ENST00000367838.1	-	8	1867	c.1554C>T	c.(1552-1554)atC>atT	p.I518I	GPR161_ENST00000271357.5_Silent_p.I518I|GPR161_ENST00000361697.2_Silent_p.I518I|GPR161_ENST00000537209.1_Silent_p.I538I|GPR161_ENST00000539777.1_Silent_p.I440I|GPR161_ENST00000367835.1_Silent_p.I518I|GPR161_ENST00000367836.1_Silent_p.I386I|GPR161_ENST00000546300.1_Silent_p.I404I	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	518					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CTCCTTCTTCGATGCTCTGCA	0.652													24	87					0	0	0	0	A	168054805	G	A	168054805	2	1	342	1	0	0	0	0	0	0	0	1	6714	1048	37	1		1	GPR161	1	168054805	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	7044168	168054805	81195816	25	64563											
C1orf105	92346	broad.mit.edu	37	chr1	172414295	172414295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attagtgctcagccttcccaGaaggtaacctctcagccacc	10	9	7	15	0	2	1	2	0	1	1	4	1	3	1	5	1	4	2	5	1	3	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:172414295G>A	ENST00000367727.4	+	2	302	c.104G>A	c.(103-105)aGa>aAa	p.R35K		NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	35										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AGCCTTCCCAGAAGGTAACCT	0.443													18	41					0	0	0	0	A	172414295	G	A	172414295	3	1	342	1	0	0	0	0	1	0	0	0	1998	942	33	2	110	2	C1orf105	1	172414295	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	4359490	172414295	76836326	26	64564											
ETNK2	55224	broad.mit.edu	37	chr1	204119045	204119045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagtcctgcatgtcctcctCcacatagcaggccaccagct	8	8	8	17	0	0	0	0	0	0	0	4	0	4	0	6	1	3	4	6	1	1	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:204119045C>T	ENST00000367199.2	-	2	630	c.220G>A	c.(220-222)Gag>Aag	p.E74K	ETNK2_ENST00000367201.3_Missense_Mutation_p.E102K|ETNK2_ENST00000367202.4_Missense_Mutation_p.E102K			Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	102							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGTCCTCCTCCACATAGCAG	0.627													3	7					0	0	0	0	T	204119045	C	T	204119045	3	4	342	1	0	0	0	0	1	0	0	0	5312	864	30	2	884	2	ETNK2	1	204119045	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	31704750	204119045	45131576	27	64565											
AHCTF1	25909	broad.mit.edu	37	chr1	247013690	247013690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacagatcttttaattcttCtaggagtcctttttgtaaca	10	18	5	8	0	3	1	0	0	3	1	4	2	4	2	1	1	2	1	1	1	4	9			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr1:247013690C>T	ENST00000366508.1	-	33	5859	c.5723G>A	c.(5722-5724)aGa>aAa	p.R1908K	AHCTF1_ENST00000326225.3_Missense_Mutation_p.R1882K|AHCTF1_ENST00000391829.2_Missense_Mutation_p.R1873K|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1873	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTTAATTCTTCTAGGAGTCCT	0.313													34	77					0	0	0	0	T	247013690	C	T	247013690	3	4	342	1	0	0	0	0	1	0	0	0	408	913	32	2	1198	2	AHCTF1	1	247013690	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	42894645	247013690	2236931	28	64566											
EIF2B4	8890	broad.mit.edu	37	chr2	27592008	27592008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgaagttcggccttactccGaccagctggaactttctccc	7	10	8	16	3	1	0	0	0	1	0	4	3	2	1	5	2	3	2	5	2	3	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:27592008G>A	ENST00000493344.2	-	3	658	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	EIF2B4_ENST00000347454.4_Missense_Mutation_p.R95W|EIF2B4_ENST00000451130.2_Missense_Mutation_p.R115W|EIF2B4_ENST00000445933.2_Missense_Mutation_p.R94W			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	95					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTTACTCCGACCAGCTGGA	0.542													32	113					0	0	0	0	A	27592008	G	A	27592008	3	1	342	1	0	0	0	0	1	0	0	0	5039	1057	37	1	1328	1	EIF2B4	2	27592008	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08		27592008	215607365	29	64567											
C2orf71	388939	broad.mit.edu	37	chr2	29296368	29296368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggctctcttttcttcaaagGccaagccagatcctccctga	8	11	8	14	0	3	2	1	1	2	1	6	2	5	2	4	2	1	1	4	2	2	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:29296368G>A	ENST00000331664.5	-	1	759	c.760C>T	c.(760-762)Cct>Tct	p.P254S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	254					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCTTCAAAGGCCAAGCCAGA	0.552													29	103					0	0	0	0	A	29296368	G	A	29296368	3	1	342	1	0	0	0	0	1	0	0	0	2211	1203	42	4	3114	4	C2orf71	2	29296368	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	1704360	29296368	213903005	30	64568											
LRPPRC	10128	broad.mit.edu	37	chr2	44201421	44201421	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtgactaaaagtaaaatGaggttcattgcatctgggaa	15	11	10	5	0	3	2	2	2	1	0	3	3	3	3	0	2	1	3	0	2	5	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:44201421G>A	ENST00000260665.7	-	9	1080	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	LRPPRC_ENST00000409946.1_Silent_p.L341L|LRPPRC_ENST00000409659.1_Silent_p.L341L	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	341					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAAGTAAAATGAGGTTCATTG	0.353													19	55					0	0	0	0	A	44201421	G	A	44201421	2	1	342	1	0	0	0	0	0	0	0	1	9029	1277	45	2		2	LRPPRC	2	44201421	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	14905053	44201421	198997952	31	64569											
PSME4	23198	broad.mit.edu	37	chr2	54155351	54155351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaaaccatctgcctcctGataccaaactgcgggctact	11	8	8	14	1	1	1	0	1	1	0	2	2	2	2	4	2	6	1	4	2	4	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:54155351G>A	ENST00000404125.1	-	11	1461	c.1406C>T	c.(1405-1407)tCa>tTa	p.S469L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	469					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTGCCTCCTGATACCAAACT	0.443													6	47					0	0	0	0	A	54155351	G	A	54155351	3	1	342	1	0	0	0	0	1	0	0	0	12788	1294	45	2	4269	2	PSME4	2	54155351	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	9953930	54155351	189044022	32	64570											
CTNNA2	1496	broad.mit.edu	37	chr2	80136794	80136794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggagaggctggagagCatcatcagcggcgcagcgct	9	5	17	10	3	2	2	2	0	0	2	2	5	2	3	0	5	3	4	0	5	0	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:80136794C>T	ENST00000466387.1	+	11	1651	c.927C>T	c.(925-927)agC>agT	p.S309S	CTNNA2_ENST00000361291.4_Silent_p.S343S|CTNNA2_ENST00000540488.1_Silent_p.S309S|CTNNA2_ENST00000402739.4_Silent_p.S309S|CTNNA2_ENST00000541047.1_Silent_p.S309S|CTNNA2_ENST00000496558.1_Silent_p.S309S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	309				S -> SS (in Ref. 5; AAY15008).	axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGCTGGAGAGCATCATCAGCG	0.632													27	83					0	0	0	0	T	80136794	C	T	80136794	2	4	342	1	0	0	0	0	0	0	0	1	4045	709	25	4		4	CTNNA2	2	80136794	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	25981443	80136794	163062579	33	64571											
RPIA	22934	broad.mit.edu	37	chr2	89028799	89028799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgtcctccgcaggccCgccagctcatcctgcagtat	5	10	8	18	2	1	0	1	0	0	0	5	0	5	0	6	1	2	4	6	1	1	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:89028799C>T	ENST00000283646.4	+	4	461	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	136					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TCCGCAGGCCCGCCAGCTCAT	0.512													10	33					0	0	0	0	T	89028799	C	T	89028799	3	4	342	1	0	0	0	0	1	0	0	0	13638	652	23	1	420	1	RPIA	2	89028799	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	8892005	89028799	154170574	34	64572											
TEKT4	150483	broad.mit.edu	37	chr2	95537573	95537573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcgctggcgcagcgcacGcagcaagactccacgcgcac	9	2	13	17	6	0	1	0	0	0	1	1	1	1	1	1	2	2	6	1	2	1	0	rs112496617		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:95537573G>A	ENST00000295201.4	+	1	386	c.249G>A	c.(247-249)acG>acA	p.T83T	TEKT4_ENST00000427593.2_Silent_p.T83T|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	83			T -> M (in dbSNP:rs4854235).		cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGCAGCGCACGCAGCAAGACT	0.697													7	26					0	0	0	0	A	95537573	G	A	95537573	2	1	342	1	0	0	0	0	0	0	0	1	15849	1074	38	1		1	TEKT4	2	95537573	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	6508774	95537573	147661800	35	64573											
TSGA10	80705	broad.mit.edu	37	chr2	99697797	99697797	+	Frame_Shift_Del	DEL	T	T	-																															tgagtaagctgtagctcataTtttttcttagcaaggtgtcg																										TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:99697797delT	ENST00000393483.3	-	11	1519	c.675delA	c.(673-675)aafs	p.K225fs	TSGA10_ENST00000410001.1_Frame_Shift_Del_p.K225fs|TSGA10_ENST00000355053.4_Frame_Shift_Del_p.K225fs|TSGA10_ENST00000539964.1_Frame_Shift_Del_p.K225fs|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Frame_Shift_Del_p.K225fs	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	225					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GTAGCTCATATTTTTTCTTAG	0.279													22	61	---	---	---	---					-	99697797	T	-	99697797	7	5	342	1	0	1	0	1	0	0	0	0	16712	1490	52	0	1465	0	TSGA10	2	99697797	Frame_Shift_Del	DEL	T	TCGA-CV-A463-01A-11D-A25Y-08	4160224	99697797	143501576	36	64574											
NCKAP5	344148	broad.mit.edu	37	chr2	133489544	133489544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggctggcataggtagcGtcctgtcgagcgatttcccg	5	11	14	11	4	1	0	0	0	1	0	4	2	3	0	2	3	2	3	2	3	2	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:133489544G>A	ENST00000409261.1	-	17	5582	c.5209C>T	c.(5209-5211)Cgc>Tgc	p.R1737C	NCKAP5_ENST00000409213.1_Missense_Mutation_p.R418C|NCKAP5_ENST00000405974.3_Missense_Mutation_p.R418C|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1737C|NCKAP5_ENST00000473859.1_5'UTR	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1737							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CATAGGTAGCGTCCTGTCGAG	0.547													16	37					0	0	0	0	A	133489544	G	A	133489544	3	1	342	1	0	0	0	0	1	0	0	0	10293	1145	40	1	536	1	NCKAP5	2	133489544	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	33791747	133489544	109709829	37	64575											
PDE11A	50940	broad.mit.edu	37	chr2	178762845	178762845	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcacatttcagcagagtttgGgcccgatgcattattttctt	8	16	8	9	1	3	1	2	0	1	1	3	2	3	1	1	1	2	3	1	1	1	6			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:178762845G>A	ENST00000286063.5	-	4	1559	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Silent_p.A56A|PDE11A_ENST00000409504.1_Silent_p.A56A|PDE11A_ENST00000358450.4_Silent_p.A164A	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	414	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCAGAGTTTGGGCCCGATGCA	0.383									Primary Pigmented Nodular Adrenocortical Disease, Familial				29	76					0	0	0	0	A	178762845	G	A	178762845	2	1	342	1	0	0	0	0	0	0	0	1	11702	1219	43	4		4	PDE11A	2	178762845	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	45273301	178762845	64436528	38	64576											
OSBPL6	114880	broad.mit.edu	37	chr2	179197667	179197667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcggttgtatcgtcagaatGaaattgtgagatcaccaaga	14	11	10	6	2	2	4	2	2	0	3	4	5	2	4	1	1	0	2	1	1	4	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:179197667G>A	ENST00000190611.4	+	8	932	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	OSBPL6_ENST00000409631.1_Missense_Mutation_p.E186K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E186K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E186K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E186K|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E186K|OSBPL6_ENST00000315022.2_Missense_Mutation_p.E165K	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	186					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TCGTCAGAATGAAATTGTGAG	0.418													33	89					0	0	0	0	A	179197667	G	A	179197667	3	1	342	1	0	0	0	0	1	0	0	0	11352	1291	45	2	621	2	OSBPL6	2	179197667	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	434822	179197667	64001706	39	64577											
TTN	7273	broad.mit.edu	37	chr2	179545893	179545893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaactttctttggttcttCaggcactttaaagatattaa	14	16	5	6	0	3	1	1	0	2	1	3	1	3	1	0	2	1	2	0	2	6	8			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:179545893C>T	ENST00000589042.1	-	138	33477	c.33253G>A	c.(33253-33255)Gaa>Aaa	p.E11085K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9841K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10768K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10768	Glu-rich.|Pro-rich.						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)			TTTGGTTCTTCAGGCACTTTA	0.308													18	42					0	0	0	0	T	179545893	C	T	179545893	3	4	342	1	0	0	0	0	1	0	0	0	16831	835	29	2	71176	2	TTN	2	179545893	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	348226	179545893	63653480	40	64578											
HECW2	57520	broad.mit.edu	37	chr2	197189708	197189708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgaggatcatcttacctctCggtgccaaattggattggtg	8	12	11	10	2	3	0	1	0	2	0	4	3	3	2	3	4	2	0	3	4	2	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:197189708C>T	ENST00000260983.2	-	6	919	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	246	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCTTACCTCTCGGTGCCAAAT	0.512													49	175					0	0	0	0	T	197189708	C	T	197189708	3	4	342	1	0	0	0	0	1	0	0	0	7093	884	31	1	4077	1	HECW2	2	197189708	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	17643815	197189708	46009665	41	64579											
PLCL1	5334	broad.mit.edu	37	chr2	198949998	198949998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgactctgtagggagctctCtgatttggtgtctatttgta	6	16	11	8	1	3	1	0	1	3	0	4	3	3	2	1	2	1	3	1	2	3	5	rs72556386		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:198949998C>T	ENST00000428675.1	+	2	2155	c.1757C>T	c.(1756-1758)tCt>tTt	p.S586F	PLCL1_ENST00000437704.2_Missense_Mutation_p.S488F	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	586	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGGGAGCTCTCTGATTTGGTG	0.388													19	68					0	0	0	0	T	198949998	C	T	198949998	3	4	342	1	0	0	0	0	1	0	0	0	12111	913	32	2	1763	2	PLCL1	2	198949998	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	1760290	198949998	44249375	42	64580											
CASP8	841	broad.mit.edu	37	chr2	202149751	202149751	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatctatgagctgacatctCagttcactggtttgaagtgc	9	13	9	10	0	3	3	2	3	2	0	4	3	3	3	1	1	2	3	1	1	2	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:202149751C>T	ENST00000358485.4	+	8	1388	c.1192C>T	c.(1192-1194)Cag>Tag	p.Q398*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q255*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q356*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q324*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q339*|CASP8_ENST00000392259.2_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	339					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.Q356*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTGACATCTCAGTTCACTGG	0.478										HNSCC(4;0.00038)			38	99					0	0	0	0	T	202149751	C	T	202149751	4	4	342	1	0	0	0	0	0	1	0	0	2702	827	29	2	1322	2	CASP8	2	202149751	Nonsense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	3199753	202149751	41049622	43	64581											
PIKFYVE	200576	broad.mit.edu	37	chr2	209136285	209136285	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccccaacactggactctgcTaatgatttgcctcgatctcc	8	12	6	15	1	2	1	0	1	2	0	5	3	3	2	4	1	3	1	4	1	2	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:209136285T>C	ENST00000264380.4	+	2	200	c.42T>C	c.(40-42)gcT>gcC	p.A14A	PIKFYVE_ENST00000392202.3_Silent_p.A14A|PIKFYVE_ENST00000308862.6_Silent_p.A14A|PIKFYVE_ENST00000407449.1_Silent_p.A14A	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	14					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TGGACTCTGCTAATGATTTGC	0.403													66	161					0	0	0	0	C	209136285	T	C	209136285	2	2	342	1	0	0	0	0	0	0	0	1	11996	1509	53	5		5	PIKFYVE	2	209136285	Silent	SNP	T	TCGA-CV-A463-01A-11D-A25Y-08	6986534	209136285	34063088	44	64582											
TNS1	7145	broad.mit.edu	37	chr2	218682865	218682865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctggggcttccagggctgGctattgcattgctatgaaga	7	11	15	8	0	0	2	0	1	0	1	1	2	1	2	1	5	2	6	1	5	3	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:218682865G>A	ENST00000171887.4	-	24	4330	c.3878C>T	c.(3877-3879)gCc>gTc	p.A1293V	TNS1_ENST00000430930.1_Missense_Mutation_p.A1272V|TNS1_ENST00000419504.1_Missense_Mutation_p.A1280V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1293						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCAGGGCTGGCTATTGCATT	0.657													6	24					0	0	0	0	A	218682865	G	A	218682865	3	1	342	1	0	0	0	0	1	0	0	0	16437	1203	42	4	1369	4	TNS1	2	218682865	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	9546580	218682865	24516508	45	64583											
TRPM8	79054	broad.mit.edu	37	chr2	234851309	234851309	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaccatcagcaggagttcaGaggagaatattgtggccatt	13	9	11	8	0	2	2	2	0	0	2	2	4	2	3	2	3	1	2	2	3	2	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:234851309G>C	ENST00000324695.4	+	6	656	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_Missense_Mutation_p.E129Q|TRPM8_ENST00000355722.4_Missense_Mutation_p.E156Q	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	206						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CAGGAGTTCAGAGGAGAATAT	0.537													28	95					0	0	0	0	C	234851309	G	C	234851309	3	2	342	1	0	0	0	0	1	0	0	0	16687	943	33	2	634	2	TRPM8	2	234851309	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	16168444	234851309	8348064	46	64584											
ASB18	401036	broad.mit.edu	37	chr2	237172837	237172837	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctttcatccagtcgtcaTtggccagttctatcacagcg	7	13	9	12	2	5	0	3	0	2	0	7	0	6	0	2	2	1	1	2	2	1	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:237172837T>C	ENST00000409749.3	-	1	151	c.152A>G	c.(151-153)aAt>aGt	p.N51S	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	51					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CCAGTCGTCATTGGCCAGTTC	0.502													7	34					0	0	0	0	C	237172837	T	C	237172837	3	2	342	1	0	0	0	0	1	0	0	0	1026	1493	52	5	1271	5	ASB18	2	237172837	Missense_Mutation	SNP	T	TCGA-CV-A463-01A-11D-A25Y-08	2321528	237172837	6026536	47	64585											
HDAC4	9759	broad.mit.edu	37	chr2	240085500	240085500	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccacacccacacttaccCgtaccagtagcgagggtcgc	9	6	8	18	3	0	0	0	0	0	0	2	1	1	0	5	1	3	2	5	1	3	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr2:240085500C>T	ENST00000345617.3	-	6	1401	c.611_splice	c.e6+1	p.G204_splice	HDAC4_ENST00000541256.1_Splice_Site_p.G173_splice	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	204	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CACACTTACCCGTACCAGTAG	0.562													19	73					0	0	0	0	T	240085500	C	T	240085500	5	4	342	1	0	0	0	0	0	0	1	0	7059	666	23	1	2732	1	HDAC4	2	240085500	Splice_Site	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	2912663	240085500	3113873	48	64586											
ATP2B2	491	broad.mit.edu	37	chr3	10384545	10384545	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcggccgtacggcttcctCagcagcagggtctccgtggg	4	9	15	13	4	2	0	1	0	1	0	4	0	3	0	3	4	4	4	3	4	1	3	rs144283368		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr3:10384545C>T	ENST00000397077.1	-	18	3248	c.2673G>A	c.(2671-2673)ctG>ctA	p.L891L	ATP2B2_ENST00000343816.4_Silent_p.L922L|ATP2B2_ENST00000360273.2_Silent_p.L936L|ATP2B2_ENST00000383800.4_Silent_p.L891L|ATP2B2_ENST00000352432.4_Silent_p.L936L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	936					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACGGCTTCCTCAGCAGCAGGG	0.612													16	42					0	0	0	0	T	10384545	C	T	10384545	2	4	342	1	0	0	0	0	0	0	0	1	1144	813	29	2		2	ATP2B2	3	10384545	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08		10384545	187637885	49	64587											
SLC4A7	9497	broad.mit.edu	37	chr3	27442266	27442266	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatactcacagaaacagtaaGatttctccaggaaatattgt	16	12	6	7	0	2	2	1	0	1	2	3	3	2	3	1	1	2	1	1	1	6	6			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr3:27442266G>C	ENST00000295736.5	-	16	2459	c.2389C>G	c.(2389-2391)Ctt>Gtt	p.L797V	SLC4A7_ENST00000428386.1_Missense_Mutation_p.L673V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L793V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L678V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L678V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L789V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L682V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L793V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L347V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L806V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	797						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GAAACAGTAAGATTTCTCCAG	0.333													35	65					0	0	0	0	C	27442266	G	C	27442266	3	2	342	1	0	0	0	0	1	0	0	0	14746	942	33	2	1295	2	SLC4A7	3	27442266	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	17057721	27442266	170580164	50	64588											
DLEC1	9940	broad.mit.edu	37	chr3	38159466	38159466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagtgtgaggaggagaCagcctcagcggacaagcagc	12	3	17	9	1	1	2	1	1	0	1	1	6	1	5	1	4	4	2	1	4	1	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr3:38159466C>T	ENST00000308059.6	+	33	4676	c.4655C>T	c.(4654-4656)aCa>aTa	p.T1552I	DLEC1_ENST00000452631.2_Missense_Mutation_p.T1555I|DLEC1_ENST00000346219.3_Missense_Mutation_p.T1552I			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1552					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGGAGGAGACAGCCTCAGCG	0.617											OREG0015476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	43					0	0	0	0	T	38159466	C	T	38159466	3	4	342	1	0	0	0	0	1	0	0	0	4589	478	17	4	4785	4	DLEC1	3	38159466	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	10717200	38159466	159862964	51	64589											
PLXNB1	5364	broad.mit.edu	37	chr3	48456412	48456412	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggcaggtgtgcggcacgtGatgagctgggaggagttgac	8	7	20	6	2	0	3	0	3	0	0	0	5	0	5	0	5	2	4	0	5	0	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr3:48456412G>A	ENST00000358536.4	-	21	4274	c.4005C>T	c.(4003-4005)atC>atT	p.I1335I	PLXNB1_ENST00000358459.4_Silent_p.I1152I|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000296440.6_Silent_p.I1335I|PLXNB1_ENST00000456774.1_Silent_p.I1152I|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1335	IPT/TIG 3.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGCGGCACGTGATGAGCTGGG	0.587													34	67					0	0	0	0	A	48456412	G	A	48456412	2	1	342	1	0	0	0	0	0	0	0	1	12195	1280	45	2		2	PLXNB1	3	48456412	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	10296946	48456412	149566018	52	64590											
P4HTM	54681	broad.mit.edu	37	chr3	49028032	49028032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	taggtcccctcacccggctgGagggcatcaaggtgaggacc	8	6	14	13	1	2	1	2	1	0	0	3	3	3	3	4	6	0	2	4	6	2	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr3:49028032G>C	ENST00000343546.4	+	1	711	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	P4HTM_ENST00000383729.4_Missense_Mutation_p.E115Q	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	115						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CACCCGGCTGGAGGGCATCAA	0.741													5	10					0	0	0	0	C	49028032	G	C	49028032	3	2	342	1	0	0	0	0	1	0	0	0	11431	1175	41	2	345	2	P4HTM	3	49028032	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	571620	49028032	148994398	53	64591											
STX19	415117	broad.mit.edu	37	chr3	93733462	93733462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttctccaaattaacaagttCcttgtgtctctgttcaatct	9	17	5	10	0	4	0	1	0	3	0	7	0	5	0	2	0	1	3	2	0	4	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr3:93733462C>T	ENST00000315099.2	-	2	908	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000486562.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	218	t-SNARE coiled-coil homology.				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TTAACAAGTTCCTTGTGTCTC	0.328													29	80					0	0	0	0	T	93733462	C	T	93733462	3	4	342	1	0	0	0	0	1	0	0	0	15432	864	30	2	236	2	STX19	3	93733462	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	44705430	93733462	104288968	54	64592											
GPR156	165829	broad.mit.edu	37	chr3	119886913	119886913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttttgagtcagatatcttctCctccttccctggggagaagc	7	14	9	11	0	3	3	1	1	2	2	6	4	5	3	3	2	1	0	3	2	2	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr3:119886913C>T	ENST00000464295.1	-	10	1856	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K	GPR156_ENST00000461057.1_Missense_Mutation_p.E467K|GPR156_ENST00000315843.3_Missense_Mutation_p.E471K			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	471						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GATATCTTCTCCTCCTTCCCT	0.537													10	90					0	0	0	0	T	119886913	C	T	119886913	3	4	342	1	0	0	0	0	1	0	0	0	6710	864	30	2	1037	2	GPR156	3	119886913	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	26153451	119886913	78135517	55	64593											
STXBP5L	9515	broad.mit.edu	37	chr3	121132062	121132062	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgccactgacagacatgagGatagcacgaacattttgttt	12	12	9	8	1	0	3	0	2	0	1	0	5	0	4	1	1	3	2	1	1	2	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr3:121132062G>A	ENST00000273666.6	+	25	3349	c.3078G>A	c.(3076-3078)agG>agA	p.R1026R	STXBP5L_ENST00000471454.1_Silent_p.R1002R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1026					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAGACATGAGGATAGCACGAA	0.388													28	73					0	0	0	0	A	121132062	G	A	121132062	2	1	342	1	0	0	0	0	0	0	0	1	15447	1165	41	2		2	STXBP5L	3	121132062	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	1245149	121132062	76890368	56	64594											
FBXO40	51725	broad.mit.edu	37	chr3	121341555	121341555	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggactgttcatggattttGccacacaaacatacaacttt	13	13	6	9	0	1	0	1	0	0	0	1	2	1	2	1	2	4	1	1	2	3	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr3:121341555G>C	ENST00000338040.4	+	3	1693	c.1279G>C	c.(1279-1281)Gcc>Ccc	p.A427P		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	427					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CATGGATTTTGCCACACAAAC	0.512													35	99					0	0	0	0	C	121341555	G	C	121341555	3	2	342	1	0	0	0	0	1	0	0	0	5794	1319	46	4	1285	4	FBXO40	3	121341555	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	209493	121341555	76680875	57	64595											
PARP14	54625	broad.mit.edu	37	chr3	122411357	122411357	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaaataataagagattttGatgttgctgttgttaccttt	11	18	9	3	0	0	2	0	1	0	1	0	4	0	3	1	1	2	4	1	1	4	8			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr3:122411357G>C	ENST00000474629.2	+	4	831	c.565G>C	c.(565-567)Gat>Cat	p.D189H		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAGAGATTTTGATGTTGCTGT	0.388													7	31					0	0	0	0	C	122411357	G	C	122411357	3	2	342	1	0	0	0	0	1	0	0	0	11529	1290	45	2	579	2	PARP14	3	122411357	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	1069802	122411357	75611073	58	64596											
ATR	545	broad.mit.edu	37	chr3	142281947	142281947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcgttatgatccaattactGaattctttgaaataaacaaa	16	14	4	7	1	1	3	0	3	1	0	3	3	2	3	1	0	2	1	1	0	8	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr3:142281947G>C	ENST00000350721.4	-	4	418	c.297C>G	c.(295-297)ttC>ttG	p.F99L	ATR_ENST00000383101.3_Missense_Mutation_p.F99L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	99					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCCAATTACTGAATTCTTTGA	0.313								Other conserved DNA damage response genes					46	125					0	0	0	0	C	142281947	G	C	142281947	3	2	342	1	0	0	0	0	1	0	0	0	1208	1281	45	2	7813	2	ATR	3	142281947	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	19870590	142281947	55740483	59	64597											
SI	6476	broad.mit.edu	37	chr3	164735626	164735626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatccctccaactgtacGgtaagttagagcaggagttg	12	9	11	9	1	0	2	0	0	0	2	2	3	2	3	2	2	3	5	2	2	5	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr3:164735626G>A	ENST00000264382.3	-	30	3618	c.3556C>T	c.(3556-3558)Cgt>Tgt	p.R1186C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1186	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCAACTGTACGGTAAGTTAGA	0.348										HNSCC(35;0.089)			21	36					0	0	0	0	A	164735626	G	A	164735626	3	1	342	1	0	0	0	0	1	0	0	0	14385	1116	39	1	2003	1	SI	3	164735626	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	22453679	164735626	33286804	60	64598											
IDUA	3425	broad.mit.edu	37	chr4	996115	996115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccgccttcccctacgCgctcctgagcaacgacaatg	8	7	7	19	4	0	1	0	1	0	0	3	2	3	1	6	0	3	2	6	0	3	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr4:996115C>T	ENST00000453894.1	+	5	1185	c.1097C>T	c.(1096-1098)gCg>gTg	p.A366V	IDUA_ENST00000247933.4_Missense_Mutation_p.A344V|IDUA_ENST00000514224.1_Missense_Mutation_p.A212V			P35475	IDUA_HUMAN	iduronidase, alpha-L-	344			T -> P (in MPS1H).		disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TTCCCCTACGCGCTCCTGAGC	0.687													8	13					0	0	0	0	T	996115	C	T	996115	3	4	342	1	0	0	0	0	1	0	0	0	7557	768	27	1	1061	1	IDUA	4	996115	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08		996115	190158161	61	64599											
UGT2B10	7365	broad.mit.edu	37	chr4	69693207	69693207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagctgttagagtggacttCaacacaatgtcgagtacaga	13	9	11	8	1	1	2	1	0	0	2	2	4	1	3	0	1	3	4	0	1	4	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr4:69693207C>G	ENST00000265403.7	+	5	1275	c.1248C>G	c.(1246-1248)ttC>ttG	p.F416L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.F332L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	416					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGTGGACTTCAACACAATGT	0.403													57	181					0	0	0	0	G	69693207	C	G	69693207	3	3	342	1	0	0	0	0	1	0	0	0	17052	825	29	2	1266	2	UGT2B10	4	69693207	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	68697092	69693207	121461069	62	64600											
PTPN13	5783	broad.mit.edu	37	chr4	87671739	87671739	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcaacaaacttgctgttCgacctttatcagttcaagct	10	13	5	13	1	3	0	3	0	0	0	4	1	3	0	2	0	4	4	2	0	4	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr4:87671739C>T	ENST00000436978.1	+	18	3247	c.2767C>T	c.(2767-2769)Cga>Tga	p.R923*	PTPN13_ENST00000411767.2_Nonsense_Mutation_p.R923*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.R923*|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.R923*	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	923						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACTTGCTGTTCGACCTTTATC	0.468													35	95					0	0	0	0	T	87671739	C	T	87671739	4	4	342	1	0	0	0	0	0	1	0	0	12862	876	31	1	2833	1	PTPN13	4	87671739	Nonsense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	17978532	87671739	103482537	63	64601											
GRID2	2895	broad.mit.edu	37	chr4	94376877	94376877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaatgtggtggactttaCgacacgttacatggactact	12	12	10	7	2	0	1	0	1	0	0	0	4	0	3	0	3	3	1	0	3	5	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr4:94376877C>T	ENST00000282020.4	+	11	1868	c.1610C>T	c.(1609-1611)aCg>aTg	p.T537M	GRID2_ENST00000510992.1_Missense_Mutation_p.T442M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	537					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.T537M(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTGGACTTTACGACACGTTAC	0.433													24	97					0	0	0	0	T	94376877	C	T	94376877	3	4	342	1	0	0	0	0	1	0	0	0	6822	536	19	1	1652	1	GRID2	4	94376877	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	6705138	94376877	96777399	64	64602											
PDHA2	5161	broad.mit.edu	37	chr4	96762177	96762177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgttatcatggacacagtatGagtgatcctggagtcagtta	11	12	11	7	1	2	2	2	2	0	0	3	4	3	4	1	2	0	3	1	2	3	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr4:96762177G>A	ENST00000295266.4	+	1	939	c.876G>A	c.(874-876)atG>atA	p.M292I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	292					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GACACAGTATGAGTGATCCTG	0.423													22	72					0	0	0	0	A	96762177	G	A	96762177	3	1	342	1	0	0	0	0	1	0	0	0	11736	1290	45	2	878	2	PDHA2	4	96762177	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	2385300	96762177	94392099	65	64603											
ADH1B	125	broad.mit.edu	37	chr4	100237446	100237446	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactgaggagtaaagagcggGatgactttatcacctggaga	13	8	13	7	1	1	4	1	2	0	2	1	7	1	6	1	3	1	1	1	3	3	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr4:100237446G>A	ENST00000305046.8	-	4	340	c.273C>T	c.(271-273)atC>atT	p.I91I	ADH1B_ENST00000394887.3_Silent_p.I51I			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	91					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TAAAGAGCGGGATGACTTTAT	0.373													17	47					0	0	0	0	A	100237446	G	A	100237446	2	1	342	1	0	0	0	0	0	0	0	1	308	1164	41	2		2	ADH1B	4	100237446	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	3475269	100237446	90916830	66	64604											
BBS7	55212	broad.mit.edu	37	chr4	122747062	122747062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcattttggtcataactgtCcagaatttccaatagaaggg	12	13	9	7	0	1	2	1	0	0	2	3	2	3	2	2	2	2	1	2	2	5	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr4:122747062C>T	ENST00000264499.4	-	19	2284	c.2101G>A	c.(2101-2103)Gac>Aac	p.D701N		NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	701					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCATAACTGTCCAGAATTTCC	0.313									Bardet-Biedl syndrome				16	46					0	0	0	0	T	122747062	C	T	122747062	3	4	342	1	0	0	0	0	1	0	0	0	1345	855	30	2	50	2	BBS7	4	122747062	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	22509616	122747062	68407214	67	64605											
NPY5R	4889	broad.mit.edu	37	chr4	164272649	164272649	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catttcaagttggtgtattgCatttgtcatttgttgggcat	7	19	10	5	0	2	0	2	0	0	0	2	0	2	0	0	2	1	5	0	2	2	7			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr4:164272649C>T	ENST00000515560.1	+	4	2746	c.1224C>T	c.(1222-1224)tgC>tgT	p.C408C	NPY5R_ENST00000506953.1_Silent_p.C408C|NPY5R_ENST00000338566.3_Silent_p.C408C			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	408					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGGTGTATTGCATTTGTCATT	0.343													43	83					0	0	0	0	T	164272649	C	T	164272649	2	4	342	1	0	0	0	0	0	0	0	1	10681	718	25	4		4	NPY5R	4	164272649	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	41525587	164272649	26881627	68	64606											
FAT1	2195	broad.mit.edu	37	chr4	187530425	187530425	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggttgccatctataattGagtagtggatgtggctgttg	7	16	13	5	0	1	1	0	1	1	0	1	2	1	2	1	3	1	4	1	3	3	7			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr4:187530425G>C	ENST00000441802.2	-	16	10327	c.10118C>G	c.(10117-10119)tCa>tGa	p.S3373*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3373	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCTATAATTGAGTAGTGGAT	0.478										HNSCC(5;0.00058)			7	29					0	0	0	0	C	187530425	G	C	187530425	4	2	342	1	0	0	0	0	0	1	0	0	5734	1294	45	2	3696	2	FAT1	4	187530425	Nonsense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	23257776	187530425	3623851	69	64607											
FAT1	2195	broad.mit.edu	37	chr4	187628329	187628329	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctcatgctgcagctctcGatccagagggcgtgcgatgt	6	10	14	11	3	2	1	1	0	1	1	4	3	3	1	1	1	5	4	1	1	0	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr4:187628329G>A	ENST00000441802.2	-	2	2862	c.2653C>T	c.(2653-2655)Cga>Tga	p.R885*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	885	Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCAGCTCTCGATCCAGAGGG	0.512										HNSCC(5;0.00058)			35	99					0	0	0	0	A	187628329	G	A	187628329	4	1	342	1	0	0	0	0	0	1	0	0	5734	1066	37	1	11217	1	FAT1	4	187628329	Nonsense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	97904	187628329	3525947	70	64608											
FBXL7	23194	broad.mit.edu	37	chr5	15928442	15928442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtctcatgctggaaaccGtaactgtcagtggctgcagg	8	11	13	9	1	2	0	2	0	1	0	3	1	2	1	1	3	4	4	1	3	2	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr5:15928442G>A	ENST00000504595.1	+	3	1052	c.571G>A	c.(571-573)Gta>Ata	p.V191I	FBXL7_ENST00000329673.7_Missense_Mutation_p.V179I|FBXL7_ENST00000510662.1_Missense_Mutation_p.V144I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	191					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTGGAAACCGTAACTGTCAG	0.627													5	33					0	0	0	0	A	15928442	G	A	15928442	3	1	342	1	0	0	0	0	1	0	0	0	5769	1145	40	1	581	1	FBXL7	5	15928442	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08		15928442	164986818	71	64609											
PARP8	79668	broad.mit.edu	37	chr5	50091150	50091150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccccaagtcatccaaaactGagcttttcaaggaacctaac	14	8	5	14	0	2	1	2	1	0	0	3	2	3	2	4	1	4	1	4	1	6	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr5:50091150G>C	ENST00000281631.5	+	12	1485	c.1327G>C	c.(1327-1329)Gag>Cag	p.E443Q	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.E422Q|PARP8_ENST00000514342.2_Missense_Mutation_p.E196Q|PARP8_ENST00000514067.2_Missense_Mutation_p.E443Q|PARP8_ENST00000503750.2_Missense_Mutation_p.E443Q|PARP8_ENST00000505697.2_Missense_Mutation_p.E443Q	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	443						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATCCAAAACTGAGCTTTTCAA	0.443													31	94					0	0	0	0	C	50091150	G	C	50091150	3	2	342	1	0	0	0	0	1	0	0	0	11536	1291	45	2	1373	2	PARP8	5	50091150	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	34162708	50091150	130824110	72	64610											
ITGA2	3673	broad.mit.edu	37	chr5	52361766	52361766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatggggattccatcacCgatgtgtctattggtgcctt	8	15	10	8	1	2	0	1	0	1	0	3	2	3	1	3	3	1	0	3	3	3	5	rs144430073	byFrequency	TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr5:52361766C>T	ENST00000296585.5	+	15	2045	c.1902C>T	c.(1900-1902)acC>acT	p.T634T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	634					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATTCCATCACCGATGTGTCTA	0.448													81	50					0	0	0	0	T	52361766	C	T	52361766	2	4	342	1	0	0	0	0	0	0	0	1	7928	639	23	1		1	ITGA2	5	52361766	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	2270616	52361766	128553494	73	64611											
IPO11	51194	broad.mit.edu	37	chr5	61779893	61779893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agatggcattcttcacatatCctactttgacagagatatgt	12	14	7	8	0	2	3	1	1	1	2	3	4	3	3	1	1	1	1	1	1	3	6			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr5:61779893C>T	ENST00000325324.6	+	11	1247	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S	IPO11_ENST00000409296.3_Missense_Mutation_p.P400S|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	360						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTTCACATATCCTACTTTGAC	0.353													12	135					0	0	0	0	T	61779893	C	T	61779893	3	4	342	1	0	0	0	0	1	0	0	0	7846	855	30	2	1240	2	IPO11	5	61779893	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	9418127	61779893	119135367	74	64612											
ZFYVE16	9765	broad.mit.edu	37	chr5	79752783	79752783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaatgaaagtactaaattCttccaatgagcatgtcatta	15	13	7	6	0	2	2	1	2	1	0	3	2	3	2	1	1	2	3	1	1	7	6			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr5:79752783C>T	ENST00000338008.5	+	13	3995	c.3815C>T	c.(3814-3816)tCt>tTt	p.S1272F	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S1272F|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S1272F	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1272					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GTACTAAATTCTTCCAATGAG	0.338													49	29					0	0	0	0	T	79752783	C	T	79752783	3	4	342	1	0	0	0	0	1	0	0	0	17759	913	32	2	3861	2	ZFYVE16	5	79752783	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	17972890	79752783	101162477	75	64613											
ERAP2	64167	broad.mit.edu	37	chr5	96238049	96238049	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacagacacattctaaaatCaaagacaggtaatgaactaa	20	7	5	9	0	2	3	1	1	1	2	2	3	2	3	1	1	1	1	1	1	6	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr5:96238049C>G	ENST00000437043.3	+	12	2531	c.1820C>G	c.(1819-1821)tCa>tGa	p.S607*	ERAP2_ENST00000379904.4_Nonsense_Mutation_p.S562*|ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	607					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ATTCTAAAATCAAAGACAGGT	0.358													41	23					0	0	0	0	G	96238049	C	G	96238049	4	3	342	1	0	0	0	0	0	1	0	0	5242	838	29	2	1862	2	ERAP2	5	96238049	Nonsense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	16485266	96238049	84677211	76	64614											
PCDHB12	56124	broad.mit.edu	37	chr5	140590536	140590536	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcccaggccgactcgcTcactgtctacctggtggtgg	5	8	13	15	2	2	0	1	0	1	0	3	1	2	0	4	5	1	1	4	5	1	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr5:140590536T>A	ENST00000239450.2	+	1	2246	c.2057T>A	c.(2056-2058)cTc>cAc	p.L686H	PCDHB12_ENST00000541609.1_Missense_Mutation_p.L349H	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		686					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGACTCGCTCACTGTCTAC	0.701													124	53					0	0	0	0	A	140590536	T	A	140590536	3	1	342	1	0	0	0	0	1	0	0	0	11608	1551	54	5	2059	5	PCDHB12	5	140590536	Missense_Mutation	SNP	T	TCGA-CV-A463-01A-11D-A25Y-08	44352487	140590536	40324724	77	64615											
SPINK1	6690	broad.mit.edu	37	chr5	147207656	147207656	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacagacagggtcatatatCttggtgcatccattaagttc	11	12	8	10	0	2	1	1	0	1	1	4	1	3	1	2	2	1	2	2	2	3	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr5:147207656C>T	ENST00000510027.2	-	3	180	c.123G>A	c.(121-123)aaG>aaA	p.K41K	SPINK1_ENST00000296695.5_Silent_p.K41K			P00995	ISK1_HUMAN	serine peptidase inhibitor, Kazal type 1	41	Kazal-like.	Reactive bond.				extracellular region	protein binding|serine-type endopeptidase inhibitor activity			endometrium(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCATATATCTTGGTGCATC	0.343									Hereditary Pancreatitis				7	71					0	0	0	0	T	147207656	C	T	147207656	2	4	342	1	0	0	0	0	0	0	0	1	15147	912	32	2		2	SPINK1	5	147207656	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	6617120	147207656	33707604	78	64616											
TIMD4	91937	broad.mit.edu	37	chr5	156381429	156381429	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttcgtgtgcttacctcTctgtagattcaggcgcacgt	5	13	10	13	3	2	1	1	0	1	1	4	1	2	1	2	1	2	3	2	1	2	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr5:156381429T>C	ENST00000274532.2	-	2	453	c.397A>G	c.(397-399)Aga>Gga	p.R133G	TIMD4_ENST00000407087.3_Missense_Mutation_p.R133G	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	133						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCTTACCTCTCTGTAGATTC	0.502													23	34					0	0	0	0	C	156381429	T	C	156381429	3	2	342	1	0	0	0	0	1	0	0	0	15997	1559	54	5	771	5	TIMD4	5	156381429	Missense_Mutation	SNP	T	TCGA-CV-A463-01A-11D-A25Y-08	9173773	156381429	24533831	79	64617											
ATP10B	23120	broad.mit.edu	37	chr5	160114916	160114916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctcttcccaatcttgatGgaatatgctgttgttgggga	8	14	11	8	0	2	1	0	1	2	0	3	4	3	3	2	3	1	3	2	3	3	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr5:160114916G>A	ENST00000327245.5	-	5	1012	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	56					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAATCTTGATGGAATATGCTG	0.522													112	65					0	0	0	0	A	160114916	G	A	160114916	3	1	342	1	0	0	0	0	1	0	0	0	1121	1348	47	4	4307	4	ATP10B	5	160114916	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	3733487	160114916	20800344	80	64618											
UIMC1	51720	broad.mit.edu	37	chr5	176397841	176397841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcactcattttgagagccaGagcaaactgttcttcttctg	9	14	7	11	0	5	2	2	1	3	2	5	3	5	2	1	0	3	2	1	0	1	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr5:176397841G>C	ENST00000377219.2	-	4	425	c.259C>G	c.(259-261)Ctg>Gtg	p.L87V	UIMC1_ENST00000506128.1_Missense_Mutation_p.L87V|UIMC1_ENST00000511320.1_Missense_Mutation_p.L87V|UIMC1_ENST00000377227.4_Missense_Mutation_p.L87V	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	87	Glu-rich.|Necessary for transcriptional repression.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGAGAGCCAGAGCAAACTGT	0.458													14	95					0	0	0	0	C	176397841	G	C	176397841	3	2	342	1	0	0	0	0	1	0	0	0	17067	933	33	2	1948	2	UIMC1	5	176397841	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	16282925	176397841	4517419	81	64619											
TMED9	54732	broad.mit.edu	37	chr5	177022351	177022351	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attctgcagaccctcatcctCgtggccatcggtgtctggca	6	11	10	14	2	3	1	1	0	2	1	6	1	4	1	3	3	1	2	3	3	0	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr5:177022351C>T	ENST00000332598.6	+	5	699	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	214					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTCATCCTCGTGGCCATCG	0.592													16	77					0	0	0	0	T	177022351	C	T	177022351	2	4	342	1	0	0	0	0	0	0	0	1	16106	871	31	1		1	TMED9	5	177022351	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	624510	177022351	3892909	82	64620											
ATXN1	6310	broad.mit.edu	37	chr6	16327555	16327555	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccccgtaccgccggctcttCtccatctcaccgttcaggac	5	9	8	19	4	4	0	2	0	3	0	6	1	4	1	6	2	1	3	6	2	1	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr6:16327555C>T	ENST00000244769.4	-	8	1923	c.987G>A	c.(985-987)gaG>gaA	p.E329E	ATXN1_ENST00000436367.1_Silent_p.E329E	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	329					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCCGGCTCTTCTCCATCTCAC	0.677													28	59					0	0	0	0	T	16327555	C	T	16327555	2	4	342	1	0	0	0	0	0	0	0	1	1213	912	32	2		2	ATXN1	6	16327555	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08		16327555	154787512	83	64621											
RIMS1	22999	broad.mit.edu	37	chr6	72984118	72984118	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattcaaatccagcatgcGtctccggagaatgacaggta	13	8	11	9	2	2	2	1	1	1	1	4	4	3	3	2	3	2	2	2	3	3	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr6:72984118G>A	ENST00000521978.1	+	23	3465	c.3465G>A	c.(3463-3465)gcG>gcA	p.A1155A	RIMS1_ENST00000518273.1_Silent_p.A1091A|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000348717.5_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1155					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)				TCCAGCATGCGTCTCCGGAGA	0.493													9	36					0	0	0	0	A	72984118	G	A	72984118	2	1	342	1	0	0	0	0	0	0	0	1	13452	1132	40	1		1	RIMS1	6	72984118	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	56656563	72984118	98130949	84	64622											
HACE1	57531	broad.mit.edu	37	chr6	105178206	105178206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaagttggtaaaagatttgGagtatatggcacagcagcga	14	10	13	4	1	0	2	0	1	0	1	0	4	0	3	0	3	2	5	0	3	5	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr6:105178206G>A	ENST00000262903.4	-	23	2875	c.2599C>T	c.(2599-2601)Cca>Tca	p.P867S	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.P652S	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	867	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AAAAGATTTGGAGTATATGGC	0.358													18	50					0	0	0	0	A	105178206	G	A	105178206	3	1	342	1	0	0	0	0	1	0	0	0	6990	1174	41	2	138	2	HACE1	6	105178206	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	32194088	105178206	65936861	85	64623											
REV3L	5980	broad.mit.edu	37	chr6	111688459	111688459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagatatcactagaggctCttgaggctcactgcaggggc	9	9	14	9	0	3	3	2	1	1	2	3	4	3	3	0	5	1	3	0	5	2	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr6:111688459C>G	ENST00000435970.1	-	16	7114	c.6298G>C	c.(6298-6300)Gag>Cag	p.E2100Q	REV3L_ENST00000368802.3_Missense_Mutation_p.E2178Q|REV3L_ENST00000368805.1_Missense_Mutation_p.E2178Q|REV3L_ENST00000358835.3_Missense_Mutation_p.E2178Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2178					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ACTAGAGGCTCTTGAGGCTCA	0.413								DNA polymerases (catalytic subunits)					24	79					0	0	0	0	G	111688459	C	G	111688459	3	3	342	1	0	0	0	0	1	0	0	0	13322	922	32	2	2936	2	REV3L	6	111688459	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	6510253	111688459	59426608	86	64624											
TTLL2	83887	broad.mit.edu	37	chr6	167754657	167754657	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatggtctaagaaatgaGgggagagaagccagtaatgc	16	8	13	4	0	1	3	0	1	1	2	1	5	1	4	1	3	2	1	1	3	6	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr6:167754657G>A	ENST00000239587.5	+	3	1357	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	423	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TAAGAAATGAGGGGAGAGAAG	0.433													29	74					0	0	0	0	A	167754657	G	A	167754657	2	1	342	1	0	0	0	0	0	0	0	1	16823	991	35	4		4	TTLL2	6	167754657	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	56066198	167754657	3360410	87	64625											
TMEM184A	202915	broad.mit.edu	37	chr7	1586596	1586596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccaggcccccctacaggtCctccgaggggatcagcatcc	7	5	11	18	1	1	0	1	0	0	0	4	2	4	1	7	4	2	1	7	4	1	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr7:1586596C>A	ENST00000297477.5	-	9	1550	c.1234G>T	c.(1234-1236)Gac>Tac	p.D412Y		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	412						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CCCTACAGGTCCTCCGAGGGG	0.716													7	17					0.00198382	0.00200441	1	0	A	1586596	C	A	1586596	3	1	342	1	0	0	0	0	1	0	0	0	16198	855	30	2	11	2	TMEM184A	7	1586596	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08		1586596	157552067	88	64626											
BBS9	27241	broad.mit.edu	37	chr7	33296955	33296955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttcttctgcctggtcctCttgcctacagttcccgtaca	4	15	7	15	1	3	0	0	0	3	0	5	0	5	0	4	1	4	3	4	1	2	6			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr7:33296955C>T	ENST00000242067.6	+	6	1071	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	BBS9_ENST00000396127.2_Missense_Mutation_p.L184F|BBS9_ENST00000355070.2_Missense_Mutation_p.L184F|BBS9_ENST00000354265.4_Missense_Mutation_p.L184F|BBS9_ENST00000350941.3_Missense_Mutation_p.L184F|BBS9_ENST00000425508.2_Missense_Mutation_p.L139F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	184					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCCTGGTCCTCTTGCCTACAG	0.428									Bardet-Biedl syndrome				51	96					0	0	0	0	T	33296955	C	T	33296955	3	4	342	1	0	0	0	0	1	0	0	0	1346	913	32	2	568	2	BBS9	7	33296955	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	31710359	33296955	125841708	89	64627											
MRPS24	64951	broad.mit.edu	37	chr7	43908573	43908573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgctcacctgtgtgcagcGacagccagcctttacggtgg	6	9	12	14	3	1	0	1	0	0	0	2	1	2	0	4	2	5	2	4	2	1	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr7:43908573G>A	ENST00000317534.5	-	3	270	c.209C>T	c.(208-210)tCg>tTg	p.S70L	RP5-1165K10.1_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	70					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TGTGTGCAGCGACAGCCAGCC	0.577													10	39					0	0	0	0	A	43908573	G	A	43908573	3	1	342	1	0	0	0	0	1	0	0	0	9905	1059	37	1	302	1	MRPS24	7	43908573	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	10611618	43908573	115230090	90	64628											
ADCY1	107	broad.mit.edu	37	chr7	45662327	45662327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgagctcttcggcaagttCgatgaattagccacggtaag	12	10	11	8	3	1	2	0	2	1	0	3	3	1	2	1	2	2	4	1	2	5	4	rs143472730	byFrequency	TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr7:45662327C>T	ENST00000297323.7	+	4	1027	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	ADCY1_ENST00000432715.1_Silent_p.F110F	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	335					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.F335F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCGGCAAGTTCGATGAATTAG	0.488													17	23					0	0	0	0	T	45662327	C	T	45662327	2	4	342	1	0	0	0	0	0	0	0	1	292	883	31	1		1	ADCY1	7	45662327	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	1753754	45662327	113476336	91	64629											
IGFBP1	3484	broad.mit.edu	37	chr7	45931564	45931564	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaactctacagagtcgtaGagagtttagccaaggcacag	14	8	11	8	1	1	3	0	0	1	3	2	4	1	3	1	1	3	3	1	1	6	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr7:45931564G>C	ENST00000275525.3	+	3	849	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	IGFBP1_ENST00000457280.1_Missense_Mutation_p.E185Q|IGFBP1_ENST00000468955.1_Intron	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	185	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						CAGAGTCGTAGAGAGTTTAGC	0.413											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	37					0	0	0	0	C	45931564	G	C	45931564	3	2	342	1	0	0	0	0	1	0	0	0	7631	943	33	2	563	2	IGFBP1	7	45931564	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	269237	45931564	113207099	92	64630											
ZPBP	11055	broad.mit.edu	37	chr7	50121408	50121408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggcccataccattggaatGatgggtctatcagttcagca	11	11	10	9	0	3	1	2	1	1	0	3	2	3	2	2	3	2	2	2	3	4	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr7:50121408G>A	ENST00000046087.2	-	3	365	c.296C>T	c.(295-297)tCa>tTa	p.S99L	ZPBP_ENST00000419417.1_Missense_Mutation_p.S99L	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	99					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CCATTGGAATGATGGGTCTAT	0.358													17	66					0	0	0	0	A	50121408	G	A	50121408	3	1	342	1	0	0	0	0	1	0	0	0	18312	1294	45	2	783	2	ZPBP	7	50121408	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	4189844	50121408	109017255	93	64631											
ABHD11	83451	broad.mit.edu	37	chr7	73150995	73150995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcccgagggaagagcCgcataatctcagggtggtgg	8	7	17	9	2	2	1	1	0	2	1	3	3	2	2	2	5	1	1	2	5	2	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr7:73150995C>T	ENST00000222800.3	-	6	911	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	ABHD11_ENST00000458339.1_3'UTR|ABHD11_ENST00000437775.2_Missense_Mutation_p.R274Q|ABHD11_ENST00000395147.4_Missense_Mutation_p.R224Q	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	281							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGGGAAGAGCCGCATAATCTC	0.607													15	71					0	0	0	0	T	73150995	C	T	73150995	3	4	342	1	0	0	0	0	1	0	0	0	75	652	23	1	109	1	ABHD11	7	73150995	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	23029587	73150995	85987668	94	64632											
STAG3L2	442582	broad.mit.edu	37	chr7	74300804	74300804	+	RNA	DEL	A	A	-																															gaacagctgtcttcatacttAaaaaaaaaaaaggatcacag																										TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													2	4	---	---	---	---					-	74300804	A	-	74300804	6	5	342	0	1	1	0	1	0	0	0	0	15335	377	13	0		0	STAG3L2	7	74300804	RNA	DEL	A	TCGA-CV-A463-01A-11D-A25Y-08	1149809	74300804	84837859	95	64633											
ZNF425	155054	broad.mit.edu	37	chr7	148801588	148801588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcaggcgctggtgggCgcgcatggcgttcctccaga	4	8	17	12	4	0	1	0	0	0	1	2	1	2	1	2	4	1	5	2	4	0	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr7:148801588C>T	ENST00000378061.2	-	4	1507	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	459					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGCTGGTGGGCGCGCATGGCG	0.662													25	64					0	0	0	0	T	148801588	C	T	148801588	3	4	342	1	0	0	0	0	1	0	0	0	17994	768	27	1	887	1	ZNF425	7	148801588	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	74500784	148801588	10337075	96	64634											
CHRNB3	1142	broad.mit.edu	37	chr8	42586979	42586979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtttggatcctggacttatGatggcaccatggttgacctc	8	13	11	9	0	0	2	0	2	0	0	2	4	1	4	3	4	0	3	3	4	1	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr8:42586979G>A	ENST00000289957.2	+	5	657	c.529G>A	c.(529-531)Gat>Aat	p.D177N		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	177					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGGACTTATGATGGCACCAT	0.478													19	60					0	0	0	0	A	42586979	G	A	42586979	3	1	342	1	0	0	0	0	1	0	0	0	3421	1290	45	2	547	2	CHRNB3	8	42586979	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08		42586979	103777043	97	64635											
ZFHX4	79776	broad.mit.edu	37	chr8	77766424	77766424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgacccctctcccccttctCaaggcaccaaaccagccctg	8	7	6	20	0	2	1	1	1	2	0	4	1	2	1	7	1	2	1	7	1	2	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr8:77766424C>G	ENST00000521891.2	+	10	7715	c.7267C>G	c.(7267-7269)Caa>Gaa	p.Q2423E	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2378E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2378E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2397E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2378	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCCCCTTCTCAAGGCACCAA	0.562										HNSCC(33;0.089)			3	12					0	0	0	0	G	77766424	C	G	77766424	3	3	342	1	0	0	0	0	1	0	0	0	17730	827	29	2	7301	2	ZFHX4	8	77766424	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	35179445	77766424	68597598	98	64636											
CPNE3	8895	broad.mit.edu	37	chr8	87567120	87567120	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtatcggtcttgtcttcctCagataaaactctatggacca	10	13	7	11	2	4	1	1	0	3	1	6	2	5	2	2	2	1	1	2	2	4	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr8:87567120C>T	ENST00000521271.1	+	15	1324	c.1162C>T	c.(1162-1164)Cag>Tag	p.Q388*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.Q388*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	388	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TTGTCTTCCTCAGATAAAACT	0.403													34	75					0	0	0	0	T	87567120	C	T	87567120	4	4	342	1	0	0	0	0	0	1	0	0	3843	827	29	2	1212	2	CPNE3	8	87567120	Nonsense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	9800696	87567120	58796902	99	64637											
CNGB3	54714	broad.mit.edu	37	chr8	87590976	87590976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacttgcttttcctgtgcCtcctaggagagttttaaaca	10	14	8	9	0	0	2	0	0	0	2	2	3	2	2	3	1	3	2	3	1	4	6			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr8:87590976C>T	ENST00000320005.5	-	17	2091	c.2044G>A	c.(2044-2046)Ggc>Agc	p.G682S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	682					signal transduction|visual perception	integral to membrane	cGMP binding	p.G682S(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTCCTGTGCCTCCTAGGAGA	0.493													27	61					0	0	0	0	T	87590976	C	T	87590976	3	4	342	1	0	0	0	0	1	0	0	0	3631	681	24	4	393	4	CNGB3	8	87590976	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	23856	87590976	58773046	100	64638											
GDF6	392255	broad.mit.edu	37	chr8	97172596	97172596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcattgatgcccagcttctCagcgatggagtaagtcctgt	8	11	12	10	1	1	1	1	1	1	0	3	3	2	2	2	2	3	3	2	2	1	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr8:97172596C>T	ENST00000287020.5	-	1	424	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	109					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CCCAGCTTCTCAGCGATGGAG	0.582													77	180					0	0	0	0	T	97172596	C	T	97172596	3	4	342	1	0	0	0	0	1	0	0	0	6368	835	29	2	1050	2	GDF6	8	97172596	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	9581620	97172596	49191426	101	64639											
PKHD1L1	93035	broad.mit.edu	37	chr8	110413785	110413785	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccagtccaacacaaagAtcagatgatattcatctgca	14	12	5	10	0	3	3	2	1	1	2	5	3	5	3	2	0	2	1	2	0	3	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr8:110413785A>C	ENST00000378402.5	+	14	1445	c.1341A>C	c.(1339-1341)agA>agC	p.R447S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	447					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAACACAAAGATCAGATGATA	0.333										HNSCC(38;0.096)			9	35					0	0	0	0	C	110413785	A	C	110413785	3	2	342	1	0	0	0	0	1	0	0	0	12044	330	12	5	1395	5	PKHD1L1	8	110413785	Missense_Mutation	SNP	A	TCGA-CV-A463-01A-11D-A25Y-08	13241189	110413785	35950237	102	64640											
OC90	729330	broad.mit.edu	37	chr8	133041368	133041368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtgaccaaggaagcctctCaagcaggcagcccagccttc	10	5	11	15	1	1	1	1	1	1	0	3	2	1	2	4	3	4	2	4	3	3	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr8:133041368C>T	ENST00000262283.5	-	17	1825	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	OC90_ENST00000443356.2_Missense_Mutation_p.E380K|OC90_ENST00000603859.1_Missense_Mutation_p.E364K|OC90_ENST00000254627.3_Missense_Mutation_p.E364K			Q02509	OC90_HUMAN	otoconin 90	380					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGAAGCCTCTCAAGCAGGCAG	0.512													32	78					0	0	0	0	T	133041368	C	T	133041368	3	4	342	1	0	0	0	0	1	0	0	0	10885	835	29	2	351	2	OC90	8	133041368	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	22627583	133041368	13322654	103	64641											
CDC37L1	55664	broad.mit.edu	37	chr9	4679816	4679816	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagcctccctcgggccGagggtgaggctgaggaagag	7	5	18	11	2	0	3	0	2	0	1	2	6	1	5	4	5	1	1	4	5	1	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:4679816G>T	ENST00000381854.3	+	1	251	c.49G>T	c.(49-51)Gag>Tag	p.E17*	CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Nonsense_Mutation_p.E17*	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	17	Self-association.			E -> G (in Ref. 1; BAA91304).		cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		CCCTCGGGCCGAGGGTGAGGC	0.697											OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	23					4.92203e-23	5.32308e-23	1	0	T	4679816	G	T	4679816	4	4	342	1	0	0	0	0	0	1	0	0	3098	1059	37	3	51	3	CDC37L1	9	4679816	Nonsense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08		4679816	136533615	104	64642											
ANKRD20A1	84210	broad.mit.edu	37	chr9	67951986	67951986	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcttcgcatgaaaaaGgaaacagaatagtcaatgga	17	8	10	6	1	2	2	1	1	1	1	3	5	2	5	0	3	1	1	0	3	6	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:67951986G>T	ENST00000377477.2	+	9	1061	c.949G>T	c.(949-951)Gga>Tga	p.G317*		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						GCATGAAAAAGGAAACAGAAT	0.418													24	186					9.62906e-15	1.02616e-14	1	0	T	67951986	G	T	67951986	4	4	342	1	0	0	0	0	0	1	0	0	648	1001	35	4	983	4	ANKRD20A1	9	67951986	Nonsense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	63272170	67951986	73261445	105	64643											
TRPM3	80036	broad.mit.edu	37	chr9	73233949	73233949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catacgtcagcagtttcatgGccagctgttcgtcctgcttg	6	13	10	12	2	2	0	2	0	0	0	4	0	3	0	2	1	4	5	2	1	1	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:73233949G>A	ENST00000377110.2	-	16	2399	c.2156C>T	c.(2155-2157)gCc>gTc	p.A719V	TRPM3_ENST00000357533.2_Missense_Mutation_p.A723V|TRPM3_ENST00000377111.2_Missense_Mutation_p.A719V|TRPM3_ENST00000396292.4_Missense_Mutation_p.A591V|TRPM3_ENST00000423814.3_Missense_Mutation_p.A746V|TRPM3_ENST00000396285.1_Missense_Mutation_p.A566V|TRPM3_ENST00000377106.1_Missense_Mutation_p.A591V|TRPM3_ENST00000360823.2_Missense_Mutation_p.A581V|TRPM3_ENST00000396280.5_Missense_Mutation_p.A568V|TRPM3_ENST00000408909.2_Missense_Mutation_p.A578V|TRPM3_ENST00000377105.1_Missense_Mutation_p.A578V|TRPM3_ENST00000358082.3_Missense_Mutation_p.A581V	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	744						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAGTTTCATGGCCAGCTGTTC	0.577													6	50					0	0	0	0	A	73233949	G	A	73233949	3	1	342	1	0	0	0	0	1	0	0	0	16682	1203	42	4	3007	4	TRPM3	9	73233949	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	5281963	73233949	67979482	106	64644											
SEMA4D	10507	broad.mit.edu	37	chr9	91993762	91993762	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgtcttgctcggtctCatagccggtgtccagggctg	4	12	15	10	2	2	0	1	0	2	0	5	1	3	0	2	4	2	2	2	4	1	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:91993762C>A	ENST00000450295.1	-	16	3222	c.2446G>T	c.(2446-2448)Gag>Tag	p.E816*	SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000356444.2_Nonsense_Mutation_p.E816*|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Nonsense_Mutation_p.E816*|SEMA4D_ENST00000438547.2_Nonsense_Mutation_p.E816*			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	816					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGCTCGGTCTCATAGCCGGTG	0.587													14	63					2.32078e-09	2.42892e-09	1	0	A	91993762	C	A	91993762	4	1	342	1	0	0	0	0	0	1	0	0	14121	835	29	2	716	2	SEMA4D	9	91993762	Nonsense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	18759813	91993762	49219669	107	64645											
NINJ1	4814	broad.mit.edu	37	chr9	95887203	95887203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtcctactgctggggtGccatgtccatcaagggcttc	5	11	14	11	0	1	0	1	0	0	0	4	0	3	0	3	4	3	2	3	4	2	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:95887203G>A	ENST00000375446.4	-	3	516	c.446C>T	c.(445-447)gCa>gTa	p.A149V	NINJ1_ENST00000489274.1_5'UTR	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	149					cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						CTGCTGGGGTGCCATGTCCAT	0.607													13	51					0	0	0	0	A	95887203	G	A	95887203	3	1	342	1	0	0	0	0	1	0	0	0	10488	1319	46	4	16	4	NINJ1	9	95887203	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	3893441	95887203	45326228	108	64646											
FBP2	8789	broad.mit.edu	37	chr9	97333759	97333759	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaccgggtcaagcatgaaGaggtccacgccttgccctgt	8	8	11	14	2	1	2	1	1	0	1	2	2	2	2	5	2	3	1	5	2	3	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:97333759G>A	ENST00000375337.3	-	4	618	c.552C>T	c.(550-552)ctC>ctT	p.L184L		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	184					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CAAGCATGAAGAGGTCCACGC	0.567													18	51					0	0	0	0	A	97333759	G	A	97333759	2	1	342	1	0	0	0	0	0	0	0	1	5751	929	33	2		2	FBP2	9	97333759	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	1446556	97333759	43879672	109	64647											
COL15A1	1306	broad.mit.edu	37	chr9	101796853	101796853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaagagggcctaatggctCagttggtgaaaaggtaaaaa	16	7	13	5	0	1	2	1	1	0	1	1	2	1	2	1	4	1	4	1	4	7	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:101796853C>T	ENST00000375001.3	+	17	2489	c.2066C>T	c.(2065-2067)tCa>tTa	p.S689L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	689	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTAATGGCTCAGTTGGTGAA	0.353													10	50					0	0	0	0	T	101796853	C	T	101796853	3	4	342	1	0	0	0	0	1	0	0	0	3702	838	29	2	2132	2	COL15A1	9	101796853	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	4463094	101796853	39416578	110	64648											
ERP44	23071	broad.mit.edu	37	chr9	102747299	102747299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatgatggaattctctgtGcagttttccagaatgtaagt	10	15	9	7	0	1	2	0	1	1	1	4	3	3	3	2	1	1	3	2	1	3	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:102747299G>A	ENST00000262455.6	-	11	1268	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	357					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						AATTCTCTGTGCAGTTTTCCA	0.368													15	48					0	0	0	0	A	102747299	G	A	102747299	3	1	342	1	0	0	0	0	1	0	0	0	5281	1319	46	4	159	4	ERP44	9	102747299	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	950446	102747299	38466132	111	64649											
SVEP1	79987	broad.mit.edu	37	chr9	113169175	113169175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatagtccaggccttccGtcaccccattggccagttgt	7	10	9	15	1	1	0	1	0	0	0	3	0	3	0	7	2	1	1	7	2	1	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:113169175G>A	ENST00000401783.2	-	38	9041	c.8705C>T	c.(8704-8706)aCg>aTg	p.T2902M	SVEP1_ENST00000374469.1_Missense_Mutation_p.T2879M|SVEP1_ENST00000297826.5_Missense_Mutation_p.T828M	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2902	Sushi 25.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGGCCTTCCGTCACCCCATT	0.557													29	107					0	0	0	0	A	113169175	G	A	113169175	3	1	342	1	0	0	0	0	1	0	0	0	15510	1145	40	1	2054	1	SVEP1	9	113169175	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	10421876	113169175	28044256	112	64650											
OR5C1	392391	broad.mit.edu	37	chr9	125551281	125551281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcctcctgggcatcacaaatCgctgggacctgcgtgtggcc	6	9	12	14	2	1	0	1	0	0	0	4	1	3	1	4	3	1	2	4	3	1	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:125551281C>G	ENST00000373680.2	+	1	132	c.70C>G	c.(70-72)Cgc>Ggc	p.R24G		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R24C(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CATCACAAATCGCTGGGACCT	0.602													25	74					0	0	0	0	G	125551281	C	G	125551281	3	3	342	1	0	0	0	0	1	0	0	0	11224	884	31	3	72	3	OR5C1	9	125551281	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	12382106	125551281	15662150	113	64651											
CEL	1056	broad.mit.edu	37	chr9	135941933	135941933	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggtaactatggccttcgGgatcagcacatggccattgc	9	9	11	12	1	1	0	1	0	0	0	2	1	1	1	3	4	3	2	3	4	2	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:135941933G>A	ENST00000372080.4	+	5	580	c.564G>A	c.(562-564)cgG>cgA	p.R188R	CEL_ENST00000351304.7_Silent_p.R185R	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	185					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ATGGCCTTCGGGATCAGCACA	0.637													34	134					0	0	0	0	A	135941933	G	A	135941933	2	1	342	1	0	0	0	0	0	0	0	1	3238	1219	43	4		4	CEL	9	135941933	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	10390652	135941933	5271498	114	64652											
CEL	1056	broad.mit.edu	37	chr9	135947076	135947076	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgtgccccccacgggTgactctgaggctgcccctgt	3	8	11	19	1	1	2	0	2	1	0	1	2	1	2	7	2	2	1	7	2	0	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:135947076T>C	ENST00000372080.4	+	11	2212	c.2196T>C	c.(2194-2196)ggT>ggC	p.G732G	CEL_ENST00000351304.7_Silent_p.G663G	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	729	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CCCCCACGGGTGACTCTGAGG	0.677													17	20					0	0	0	0	C	135947076	T	C	135947076	2	2	342	1	0	0	0	0	0	0	0	1	3238	1683	59	5		5	CEL	9	135947076	Silent	SNP	T	TCGA-CV-A463-01A-11D-A25Y-08	5143	135947076	5266355	115	64653											
ABO	28	broad.mit.edu	37	chr9	136131292	136131292	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggtgagccgctgcacctCttgcaccgaccccccgaaga	7	6	10	18	3	1	2	0	1	1	1	1	4	1	2	7	1	3	3	7	1	1	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:136131292C>T	ENST00000453660.2	-	0	836							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CGCTGCACCTCTTGCACCGAC	0.657													10	35					0	0	0	0	T	136131292	C	T	136131292	1	4	342	0	1	0	0	0	0	0	0	0	97	922	32	2		2	ABO	9	136131292	RNA	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	184216	136131292	5082139	116	64654											
C9orf96	169436	broad.mit.edu	37	chr9	136256512	136256512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgaccactgcaaactgcagGacctgagttccaatgtgcta	11	9	10	11	0	0	2	0	2	0	0	1	3	1	3	3	1	4	4	3	1	3	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:136256512G>A	ENST00000371957.3	+	7	630	c.523G>A	c.(523-525)Gac>Aac	p.D175N	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	175	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CAAACTGCAGGACCTGAGTTC	0.552													63	320					0	0	0	0	A	136256512	G	A	136256512	3	1	342	1	0	0	0	0	1	0	0	0	2533	1174	41	2	549	2	C9orf96	9	136256512	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	125220	136256512	4956919	117	64655											
NOTCH1	4851	broad.mit.edu	37	chr9	139404356	139404356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccggaagccgggcaggCagtcgcagaaggccgtgttg	7	5	17	12	4	0	1	0	0	0	1	1	2	0	2	4	4	2	4	4	4	2	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:139404356C>A	ENST00000277541.6	-	18	2873	c.2798G>T	c.(2797-2799)tGc>tTc	p.C933F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	933	EGF-like 24.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGGGCAGGCAGTCGCAGAA	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			27	141					3.73808e-20	4.02775e-20	1	0	A	139404356	C	A	139404356	3	1	342	1	0	0	0	0	1	0	0	0	10617	710	25	4	4937	4	NOTCH1	9	139404356	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	3147844	139404356	1809075	118	64656			1	99		4	4	9621	N	G_C	7.11405e-05
NOTCH1	4851	broad.mit.edu	37	chr9	139409131	139409131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggttgcccgcacactcatCgatgttgatgttacacatgc	8	11	11	11	2	1	1	1	1	0	0	2	2	1	1	1	2	3	4	1	2	1	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:139409131C>T	ENST00000277541.6	-	13	2113	c.2038G>A	c.(2038-2040)Gat>Aat	p.D680N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	680	EGF-like 18; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCACACTCATCGATGTTGATG	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			6	28					0	0	0	0	T	139409131	C	T	139409131	3	4	342	1	0	0	0	0	1	0	0	0	10617	884	31	1	5717	1	NOTCH1	9	139409131	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	4775	139409131	1804300	119	64657			1	99		4	4	9621	N	G_C	7.11405e-05
NOTCH1	4851	broad.mit.edu	37	chr9	139410015	139410015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgtggcggcagggctggctgGagcactcgttgatgttggtc	4	10	18	9	3	0	1	0	1	0	0	2	2	0	2	0	6	1	6	0	6	0	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:139410015G>C	ENST00000277541.6	-	11	1898	c.1823C>G	c.(1822-1824)tCc>tGc	p.S608C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	608	EGF-like 16; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGCTGGCTGGAGCACTCGTT	0.692			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			8	26					0	0	0	0	C	139410015	G	C	139410015	3	2	342	1	0	0	0	0	1	0	0	0	10617	1174	41	2	5940	2	NOTCH1	9	139410015	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	884	139410015	1803416	120	64658			1	99		4	4	9621	N	G_C	7.11405e-05
NOTCH1	4851	broad.mit.edu	37	chr9	139413976	139413976	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gttcttgcagttgtttcctgGacaatcgtcgatattttcct	6	18	8	9	2	1	0	0	0	1	0	5	2	3	1	2	1	1	4	2	1	2	7			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:139413976G>C	ENST00000277541.6	-	5	859	c.784C>G	c.(784-786)Cca>Gca	p.P262A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	262	EGF-like 7; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGTTTCCTGGACAATCGTCG	0.632			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			34	158					0	0	0	0	C	139413976	G	C	139413976	3	2	342	1	0	0	0	0	1	0	0	0	10617	1174	41	2	7003	2	NOTCH1	9	139413976	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	3961	139413976	1799455	121	64659			1	99		4	4	9621	N	G_C	7.11405e-05
MAMDC4	158056	broad.mit.edu	37	chr9	139747802	139747802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttcgagcaggacccctgcGgctggcgggacattagtacc	8	7	13	13	3	0	0	0	0	0	0	1	3	0	2	3	4	3	3	3	4	2	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:139747802G>A	ENST00000445819.1	+	3	270	c.220G>A	c.(220-222)Ggc>Agc	p.G74S	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.G74S			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	74	MAM 1.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGACCCCTGCGGCTGGCGGGA	0.677													16	64					0	0	0	0	A	139747802	G	A	139747802	3	1	342	1	0	0	0	0	1	0	0	0	9273	1116	39	1	230	1	MAMDC4	9	139747802	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	333826	139747802	1465629	122	64660											
ABCA2	20	broad.mit.edu	37	chr9	139904519	139904519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagctcgtcgaacagcgcGtcacactgcgggcagtagcc	8	6	14	13	5	1	1	1	1	0	0	3	2	1	1	1	1	5	3	1	1	2	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:139904519G>A	ENST00000265662.5	-	42	6558	c.6411C>T	c.(6409-6411)gaC>gaT	p.D2137D	ABCA2_ENST00000371605.3_Silent_p.D2136D|ABCA2_ENST00000341511.6_Silent_p.D2137D			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2136	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGAACAGCGCGTCACACTGCG	0.697													3	11					0	0	0	0	A	139904519	G	A	139904519	2	1	342	1	0	0	0	0	0	0	0	1	32	1136	40	1		1	ABCA2	9	139904519	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	156717	139904519	1308912	123	64661											
RNF208	727800	broad.mit.edu	37	chr9	140115191	140115191	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcaggcaggacagcacGcggggcctccgctgggtgac	7	4	18	12	3	0	1	0	1	0	0	1	3	1	2	2	5	2	4	2	5	0	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr9:140115191G>A	ENST00000392827.1	-	2	642	c.474C>T	c.(472-474)cgC>cgT	p.R158R	RNF208_ENST00000391553.1_Silent_p.R158R			Q9H0X6	RN208_HUMAN	ring finger protein 208	158							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGGACAGCACGCGGGGCCTCC	0.672													11	34					0	0	0	0	A	140115191	G	A	140115191	2	1	342	1	0	0	0	0	0	0	0	1	13560	1074	38	1		1	RNF208	9	140115191	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	210672	140115191	1098240	124	64662											
ITIH5	80760	broad.mit.edu	37	chr10	7684004	7684004	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccgtagtgaaggcataacggGaaatgatggtagacttcact	13	9	12	7	2	1	3	1	2	0	1	1	4	1	4	1	3	1	3	1	3	5	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr10:7684004G>C	ENST00000256861.6	-	3	263	c.185C>G	c.(184-186)tCc>tGc	p.S62C	ITIH5_ENST00000397145.2_Missense_Mutation_p.S62C|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.S62C	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	62	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGCATAACGGGAAATGATGGT	0.433													24	65					0	0	0	0	C	7684004	G	C	7684004	3	2	342	1	0	0	0	0	1	0	0	0	7960	1174	41	2	2828	2	ITIH5	10	7684004	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08		7684004	127850743	125	64663											
UNC5B	219699	broad.mit.edu	37	chr10	73057676	73057676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acccttgcagacacctgctgGctccctggacactctctgct	6	10	8	17	0	1	1	0	0	1	1	3	2	2	2	3	2	3	4	3	2	0	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr10:73057676G>A	ENST00000335350.6	+	16	2917	c.2501G>A	c.(2500-2502)gGc>gAc	p.G834D	UNC5B_ENST00000373192.4_Missense_Mutation_p.G823D	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	834					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACACCTGCTGGCTCCCTGGAC	0.617													19	72					0	0	0	0	A	73057676	G	A	73057676	3	1	342	1	0	0	0	0	1	0	0	0	17088	1203	42	4	2563	4	UNC5B	10	73057676	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	65373672	73057676	62477071	126	64664											
DNMBP	23268	broad.mit.edu	37	chr10	101715080	101715080	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgcttctcctccagcatGaggtttagctcttcttgagc	5	15	8	13	0	3	2	0	2	3	0	6	2	5	2	3	1	4	4	3	1	1	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr10:101715080G>C	ENST00000342239.3	-	4	2242	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Silent_p.L717L			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	717					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCTCCAGCATGAGGTTTAGCT	0.483													35	78					0	0	0	0	C	101715080	G	C	101715080	2	2	342	1	0	0	0	0	0	0	0	1	4710	1277	45	2		2	DNMBP	10	101715080	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	28657404	101715080	33819667	127	64665											
CPN1	1369	broad.mit.edu	37	chr10	101816775	101816775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaatgagattttacctgttCcaggaactggattagggctt	11	13	10	7	0	0	1	0	1	0	1	1	4	1	3	2	3	2	2	2	3	4	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr10:101816775C>T	ENST00000370418.3	-	6	1257	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	336	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TTTACCTGTTCCAGGAACTGG	0.478													79	189					0	0	0	0	T	101816775	C	T	101816775	3	4	342	1	0	0	0	0	1	0	0	0	3839	864	30	2	386	2	CPN1	10	101816775	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	101695	101816775	33717972	128	64666											
SORCS1	114815	broad.mit.edu	37	chr10	108412183	108412183	+	Missense_Mutation	SNP	G	G	T																															tgacgttgtgtccttgttccGctgtcagctttccatcagcc																								rs150967356	byFrequency	TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr10:108412183G>T	ENST00000263054.6	-	18	2439	c.2432C>A	c.(2431-2433)gCg>gAg	p.A811E	SORCS1_ENST00000344440.6_Missense_Mutation_p.A811E|SORCS1_ENST00000369698.1_Missense_Mutation_p.A346E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	811	PKD.					integral to membrane	neuropeptide receptor activity|protein binding	p.A811V(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCTTGTTCCGCTGTCAGCTT	0.522													18	56					8.34094e-07	8.63671e-07	1	0	T	108412183	G	T	108412183	3	4	342	1	0	0	0	0	1	0	0	0	15018	1087	38	3	1344	3	SORCS1	10	108412183	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	6595408	108412183	27122564	129	64667	777	2									
SORCS1	114815	broad.mit.edu	37	chr10	108412184	108412184	+	Missense_Mutation	SNP	C	C	T																															gacgttgtgtccttgttccgCtgtcagctttccatcagccg																										TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr10:108412184C>T	ENST00000263054.6	-	18	2438	c.2431G>A	c.(2431-2433)Gcg>Acg	p.A811T	SORCS1_ENST00000344440.6_Missense_Mutation_p.A811T|SORCS1_ENST00000369698.1_Missense_Mutation_p.A346T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	811	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTTGTTCCGCTGTCAGCTTT	0.527													18	55					0	0	0	0	T	108412184	C	T	108412184	3	4	342	1	0	0	0	0	1	0	0	0	15018	797	28	4	1345	4	SORCS1	10	108412184	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	1	108412184	27122563	130	64668	777	2									
PNLIPRP3	119548	broad.mit.edu	37	chr10	118228716	118228716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggaaattgcttcttttgttCcaaagaaggttgcccaacaa	12	12	9	8	0	1	1	0	0	1	1	2	2	2	2	2	2	3	3	2	2	5	6			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr10:118228716C>G	ENST00000369230.3	+	9	1093	c.947C>G	c.(946-948)tCc>tGc	p.S316C		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	316					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTCTTTTGTTCCAAAGAAGGT	0.313													8	68					0	0	0	0	G	118228716	C	G	118228716	3	3	342	1	0	0	0	0	1	0	0	0	12224	855	30	2	981	2	PNLIPRP3	10	118228716	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	9816532	118228716	17306031	131	64669											
MUC5B	727897	broad.mit.edu	37	chr11	1268526	1268526	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acggtgcgcacagcctggacTtcggccacctcgggcatctt	6	8	12	15	4	1	0	0	0	1	0	3	1	1	1	3	4	2	2	3	4	0	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr11:1268526T>G	ENST00000447027.1	+	31	10483	c.10425T>G	c.(10423-10425)acT>acG	p.T3475T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3472T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3472	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCTGGACTTCGGCCACCT	0.667													19	48					0	0	0	0	G	1268526	T	G	1268526	2	3	342	1	0	0	0	0	0	0	0	1	10049	1596	56	5		5	MUC5B	11	1268526	Silent	SNP	T	TCGA-CV-A463-01A-11D-A25Y-08		1268526	133737990	132	64670											
ACCSL	390110	broad.mit.edu	37	chr11	44081461	44081461	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcagttggaggatgcaatGagggagtaggccgtctgcct	10	8	16	7	1	1	1	0	1	1	0	1	4	1	4	2	4	3	4	2	4	3	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr11:44081461G>C	ENST00000378832.1	+	14	1754	c.1698G>C	c.(1696-1698)atG>atC	p.M566I		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	566							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AGGATGCAATGAGGGAGTAGG	0.562													80	181					0	0	0	0	C	44081461	G	C	44081461	3	2	342	1	0	0	0	0	1	0	0	0	134	1290	45	2	1752	2	ACCSL	11	44081461	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	42812935	44081461	90925055	133	64671											
RPS6KA4	8986	broad.mit.edu	37	chr11	64138162	64138162	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacgtgctcgagtcctctggGcccgcagtgcgctcgggtct	3	9	15	14	5	2	0	0	0	2	0	5	2	3	0	2	2	2	3	2	2	0	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr11:64138162G>A	ENST00000528057.1	+	16	2152	c.2064G>A	c.(2062-2064)ggG>ggA	p.G688G	RPS6KA4_ENST00000294261.4_Silent_p.G447G|RPS6KA4_ENST00000334205.4_Silent_p.G695G	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	695					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						AGTCCTCTGGGCCCGCAGTGC	0.706													6	7					0	0	0	0	A	64138162	G	A	64138162	2	1	342	1	0	0	0	0	0	0	0	1	13738	1190	42	4		4	RPS6KA4	11	64138162	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	20056701	64138162	70868354	134	64672											
PCNXL3	399909	broad.mit.edu	37	chr11	65393140	65393140	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgaggtcttgcactcCgacctggtgatgtgtgtggt	5	12	15	9	2	1	2	0	2	1	0	2	3	2	2	2	3	2	1	2	3	0	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr11:65393140C>T	ENST00000355703.3	+	19	3692	c.3153C>T	c.(3151-3153)tcC>tcT	p.S1051S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1051						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TCTTGCACTCCGACCTGGTGA	0.627													3	20					0	0	0	0	T	65393140	C	T	65393140	2	4	342	1	0	0	0	0	0	0	0	1	11664	639	23	1		1	PCNXL3	11	65393140	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	1254978	65393140	69613376	135	64673											
SPTBN2	6712	broad.mit.edu	37	chr11	66455760	66455760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcctccctctttctctttCgctccttctcccgctcctct	0	17	2	22	2	4	0	0	0	4	0	11	0	8	0	6	0	0	2	6	0	0	3	rs143781509	by1000genomes	TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr11:66455760C>T	ENST00000533211.1	-	32	6585	c.6254G>A	c.(6253-6255)cGa>cAa	p.R2085Q	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2085Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2085Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2085					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ctttctctttcgctccttctc	0.592													7	13					0	0	0	0	T	66455760	C	T	66455760	3	4	342	1	0	0	0	0	1	0	0	0	15210	884	31	1	946	1	SPTBN2	11	66455760	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	1062620	66455760	68550756	136	64674											
SUV420H1	51111	broad.mit.edu	37	chr11	67925460	67925460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataagaccccctattttcctCatctcgttttagctggattt	8	17	5	11	1	2	1	1	0	1	1	4	2	3	2	3	1	1	2	3	1	3	7			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr11:67925460C>T	ENST00000304363.4	-	11	2706	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	785					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTATTTTCCTCATCTCGTTTT	0.408													62	169					0	0	0	0	T	67925460	C	T	67925460	3	4	342	1	0	0	0	0	1	0	0	0	15504	835	29	2	308	2	SUV420H1	11	67925460	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	1469700	67925460	67081056	137	64675											
DLG2	1740	broad.mit.edu	37	chr11	83770409	83770409	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacggtctccaaaataggtcGtcttctacgcacatacagcc	12	9	7	13	3	3	0	0	0	3	0	5	0	3	0	2	2	4	1	2	2	6	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr11:83770409G>A	ENST00000398309.2	-	6	1023	c.553C>T	c.(553-555)Cga>Tga	p.R185*	DLG2_ENST00000330014.6_Nonsense_Mutation_p.R124*|DLG2_ENST00000532653.1_Nonsense_Mutation_p.R185*|DLG2_ENST00000537455.1_De_novo_Start_OutOfFrame|DLG2_ENST00000524982.1_Nonsense_Mutation_p.R185*|DLG2_ENST00000543673.1_Nonsense_Mutation_p.R290*|DLG2_ENST00000531015.1_Nonsense_Mutation_p.R152*|DLG2_ENST00000418306.2_Nonsense_Mutation_p.R134*|DLG2_ENST00000280241.8_Nonsense_Mutation_p.R224*|DLG2_ENST00000376104.2_Nonsense_Mutation_p.R290*|DLG2_ENST00000398301.2_Nonsense_Mutation_p.R224*|DLG2_ENST00000376106.3_De_novo_Start_OutOfFrame	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	185						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AAAATAGGTCGTCTTCTACGC	0.463													16	64					0	0	0	0	A	83770409	G	A	83770409	4	1	342	1	0	0	0	0	0	1	0	0	4592	1153	40	1	2181	1	DLG2	11	83770409	Nonsense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	15844949	83770409	51236107	138	64676											
FOLH1B	219595	broad.mit.edu	37	chr11	89424200	89424200	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctagccaattccataGtgctcccttttgattgtcga	8	15	8	10	1	0	2	0	2	0	0	3	3	2	2	3	0	3	2	3	0	3	7			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr11:89424200G>C	ENST00000532352.1	+	0	1663							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CAATTCCATAGTGCTCCCTTT	0.378													40	91					0	0	0	0	C	89424200	G	C	89424200	1	2	342	0	1	0	0	0	0	0	0	0	6025	1029	36	4		4	FOLH1B	11	89424200	RNA	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	5653791	89424200	45582316	139	64677											
FAT3	120114	broad.mit.edu	37	chr11	92543142	92543142	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggaggatgtgaatgataaCccccctgtgttttcttctga	8	14	10	9	0	2	3	0	3	2	0	2	5	2	5	3	2	1	1	3	2	2	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr11:92543142C>G	ENST00000298047.6	+	12	9398	c.9381C>G	c.(9379-9381)aaC>aaG	p.N3127K	FAT3_ENST00000525166.1_Missense_Mutation_p.N2977K|FAT3_ENST00000409404.2_Missense_Mutation_p.N3127K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3127	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAATGATAACCCCCCTGTGT	0.547										TCGA Ovarian(4;0.039)			26	60					0	0	0	0	G	92543142	C	G	92543142	3	3	342	1	0	0	0	0	1	0	0	0	5736	506	18	4	9427	4	FAT3	11	92543142	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	3118942	92543142	42463374	140	64678											
ATM	472	broad.mit.edu	37	chr11	108206680	108206680	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggaaattaactatctgtActtataaggtaactatttgt	15	15	7	4	0	1	1	0	0	1	1	1	2	1	2	0	2	3	2	0	2	8	8			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr11:108206680A>G	ENST00000278616.4	+	56	8645	c.8260A>G	c.(8260-8262)Act>Gct	p.T2754A	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.T2754A	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2754	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AACTATCTGTACTTATAAGGT	0.378			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			11	34					0	0	0	0	G	108206680	A	G	108206680	3	3	342	1	0	0	0	0	1	0	0	0	1113	391	14	5	8478	5	ATM	11	108206680	Missense_Mutation	SNP	A	TCGA-CV-A463-01A-11D-A25Y-08	15663538	108206680	26799836	141	64679											
ALG9	79796	broad.mit.edu	37	chr11	111749793	111749793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgctctgatccagggtttCgctcagagcggcggcgaagg	7	8	16	10	4	2	2	1	1	1	1	4	3	3	2	1	4	2	3	1	4	1	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr11:111749793C>T	ENST00000524880.1	-	1	356	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	FDXACB1_ENST00000260257.4_Missense_Mutation_p.E22K|FDXACB1_ENST00000542429.1_5'UTR|C11orf1_ENST00000528125.1_Intron			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	322					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TCCAGGGTTTCGCTCAGAGCG	0.667											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	22					0	0	0	0	T	111749793	C	T	111749793	3	4	342	1	0	0	0	0	1	0	0	0	524	893	31	1		1	ALG9	11	111749793	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	3543113	111749793	23256723	142	64680											
SNX19	399979	broad.mit.edu	37	chr11	130785198	130785198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaaattcacaacgccacGcgtataggtgacttcagcac	14	7	7	13	3	2	1	2	1	0	0	2	1	2	1	1	1	3	2	1	1	5	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr11:130785198G>A	ENST00000265909.4	-	1	1206	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.R213C	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	213	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACAACGCCACGCGTATAGGTG	0.577													12	25					0	0	0	0	A	130785198	G	A	130785198	3	1	342	1	0	0	0	0	1	0	0	0	14978	1087	38	1	2385	1	SNX19	11	130785198	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	19035405	130785198	4221318	143	64681											
IQSEC3	440073	broad.mit.edu	37	chr12	248431	248431	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctgccgcgctaccactgCgagaacccagccagctgcaa	10	4	10	17	3	0	1	0	0	0	1	0	2	0	1	5	0	8	3	5	0	3	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr12:248431C>T	ENST00000538872.1	+	4	2020	c.1902C>T	c.(1900-1902)tgC>tgT	p.C634C	IQSEC3_ENST00000382841.2_Silent_p.C331C|IQSEC3_ENST00000326261.4_Silent_p.C634C|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	634					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCTACCACTGCGAGAACCCAG	0.657													3	10					0	0	0	0	T	248431	C	T	248431	2	4	342	1	0	0	0	0	0	0	0	1	7872	776	27	1		1	IQSEC3	12	248431	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08		248431	133603464	144	64682											
B4GALNT3	283358	broad.mit.edu	37	chr12	668506	668506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgcttggcatctacaagtCtgacctggacaggattgggg	8	10	14	9	0	2	1	0	1	2	0	2	3	2	3	1	5	2	3	1	5	2	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr12:668506C>T	ENST00000266383.5	+	19	2820	c.2807C>T	c.(2806-2808)tCt>tTt	p.S936F		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	936						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)			ATCTACAAGTCTGACCTGGAC	0.612													34	88					0	0	0	0	T	668506	C	T	668506	3	4	342	1	0	0	0	0	1	0	0	0	1272	913	32	2	2881	2	B4GALNT3	12	668506	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	420075	668506	133183389	145	64683											
CACNA2D4	93589	broad.mit.edu	37	chr12	1902908	1902908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgtccgaggcgccgccGcagtcctgggcattctcctg	4	8	15	14	4	1	0	0	0	1	0	4	2	3	0	5	3	0	2	5	3	0	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr12:1902908G>A	ENST00000382722.5	-	38	3689	c.3327C>T	c.(3325-3327)tgC>tgT	p.C1109C	CACNA2D4_ENST00000538027.2_Silent_p.C254C|CACNA2D4_ENST00000588077.1_Silent_p.C1045C|CACNA2D4_ENST00000587995.1_Silent_p.C1084C|CACNA2D4_ENST00000538450.1_Silent_p.C239C	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	1109						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGCGCCGCCGCAGTCCTGGG	0.662													6	27					0	0	0	0	A	1902908	G	A	1902908	2	1	342	1	0	0	0	0	0	0	0	1	2576	1079	38	1		1	CACNA2D4	12	1902908	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	1234402	1902908	131948987	146	64684											
RAD51AP1	10635	broad.mit.edu	37	chr12	4654955	4654955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttaattgcagactccctGaaggtacttttagtattcca	10	15	6	10	0	0	2	0	1	0	1	2	2	2	2	3	1	2	3	3	1	5	8			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr12:4654955G>A	ENST00000228843.9	+	4	267	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RAD51AP1_ENST00000543041.1_Intron|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.E73K|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000352618.4_Intron	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	73					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			cagactccctgaaggtacttt	0.383													61	171					0	0	0	0	A	4654955	G	A	4654955	3	1	342	1	0	0	0	0	1	0	0	0	13068	1291	45	2	231	2	RAD51AP1	12	4654955	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	2752047	4654955	129196940	147	64685											
KCNJ8	3764	broad.mit.edu	37	chr12	21918983	21918983	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggtggccccattggatctCctcagcaatgtaggaggttc	7	10	13	11	1	2	0	1	0	1	0	4	2	2	2	3	5	1	3	3	5	2	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr12:21918983C>A	ENST00000240662.2	-	3	1294	c.949G>T	c.(949-951)Gag>Tag	p.E317*	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	317						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CATTGGATCTCCTCAGCAATG	0.478													27	68					3.6726e-16	3.9282e-16	1	0	A	21918983	C	A	21918983	4	1	342	1	0	0	0	0	0	1	0	0	8109	864	30	2	329	2	KCNJ8	12	21918983	Nonsense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	17264028	21918983	111932912	148	64686											
KCNJ8	3764	broad.mit.edu	37	chr12	21919122	21919122	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggactgcgcttgtcaatCacgtggcagatgatcaaagg	11	8	14	8	2	3	2	3	1	0	1	3	3	3	3	0	4	1	2	0	4	2	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr12:21919122C>T	ENST00000240662.2	-	3	1155	c.810G>A	c.(808-810)gtG>gtA	p.V270V	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	270						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GCTTGTCAATCACGTGGCAGA	0.478													11	37					0	0	0	0	T	21919122	C	T	21919122	2	4	342	1	0	0	0	0	0	0	0	1	8109	813	29	2		2	KCNJ8	12	21919122	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	139	21919122	111932773	149	64687											
FMNL3	91010	broad.mit.edu	37	chr12	50050210	50050210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgaaattgtcaaaggcagCaaggatgatttcgtgacctc	12	12	10	7	1	1	3	1	3	0	0	3	4	1	4	1	2	1	2	1	2	3	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr12:50050210C>T	ENST00000335154.5	-	9	1095	c.862G>A	c.(862-864)Gct>Act	p.A288T	FMNL3_ENST00000293590.5_Missense_Mutation_p.A288T|FMNL3_ENST00000550488.1_Missense_Mutation_p.A288T|FMNL3_ENST00000352151.5_Missense_Mutation_p.A237T	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	288	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCAAAGGCAGCAAGGATGATT	0.507													7	28					0	0	0	0	T	50050210	C	T	50050210	3	4	342	1	0	0	0	0	1	0	0	0	5998	710	25	4	2293	4	FMNL3	12	50050210	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	28131088	50050210	83801685	150	64688											
GRASP	160622	broad.mit.edu	37	chr12	52400976	52400976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggacgagctgtacgcggCgctggaggactatcaccctg	8	6	15	12	5	1	0	1	0	0	0	1	4	1	3	1	4	3	3	1	4	2	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr12:52400976C>T	ENST00000293662.4	+	1	253	c.173C>T	c.(172-174)gCg>gTg	p.A58V		NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	58						cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTGTACGCGGCGCTGGAGGAC	0.761													4	6					0	0	0	0	T	52400976	C	T	52400976	3	4	342	1	0	0	0	0	1	0	0	0	6805	768	27	1	175	1	GRASP	12	52400976	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	2350766	52400976	81450919	151	64689											
TMTC2	160335	broad.mit.edu	37	chr12	83250975	83250975	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctggagctaccatcttgtCaatgtcctgttgcatgcagc	7	12	9	13	0	2	0	1	0	1	0	3	1	3	1	3	1	5	4	3	1	2	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr12:83250975C>T	ENST00000549919.1	+	3	2057	c.252C>T	c.(250-252)gtC>gtT	p.V84V	TMTC2_ENST00000548305.1_Silent_p.V90V|TMTC2_ENST00000321196.3_Silent_p.V90V			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	90						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ACCATCTTGTCAATGTCCTGT	0.517													39	91					0	0	0	0	T	83250975	C	T	83250975	2	4	342	1	0	0	0	0	0	0	0	1	16355	813	29	2		2	TMTC2	12	83250975	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	30849999	83250975	50600920	152	64690											
CRY1	1407	broad.mit.edu	37	chr12	107395719	107395719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggttgtccaccattgagttCtatgatcctataacaagagt	11	13	8	9	1	1	3	0	2	1	1	3	3	3	3	3	1	1	2	3	1	4	6			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr12:107395719C>G	ENST00000008527.5	-	4	1285	c.418G>C	c.(418-420)Gaa>Caa	p.E140Q		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	140	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CCATTGAGTTCTATGATCCTA	0.338													35	80					0	0	0	0	G	107395719	C	G	107395719	3	3	342	1	0	0	0	0	1	0	0	0	3933	922	32	2	1378	2	CRY1	12	107395719	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	24144744	107395719	26456176	153	64691											
ALKBH2	121642	broad.mit.edu	37	chr12	109526161	109526161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcggcagcctgaccacCgccaccctcctggaggggct	6	4	13	18	2	0	1	0	1	0	0	1	2	1	2	7	4	2	2	7	4	0	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr12:109526161C>T	ENST00000440112.2	-	2	439	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	ALKBH2_ENST00000343075.3_Silent_p.A212A|ALKBH2_ENST00000429722.2_Silent_p.A212A	NM_001205179.1|NM_001205180.1	NP_001192108.1|NP_001192109.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	51					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A212A(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GCCTGACCACCGCCACCCTCC	0.602								Direct reversal of damage					7	169					0	0	0	0	T	109526161	C	T	109526161	3	4	342	1	0	0	0	0	1	0	0	0	527	639	23	1	153	1	ALKBH2	12	109526161	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	2130442	109526161	24325734	154	64692											
ATXN2	6311	broad.mit.edu	37	chr12	111891606	111891606	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattagcatcattggcgcaTgggcagttggatgagaagga	11	10	14	6	1	2	1	2	1	0	1	2	4	2	3	0	4	1	4	0	4	2	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr12:111891606T>C	ENST00000377617.3	-	24	3949	c.3788A>G	c.(3787-3789)cAt>cGt	p.H1263R	ATXN2_ENST00000389153.4_Missense_Mutation_p.H1000R|ATXN2_ENST00000542287.2_Missense_Mutation_p.H1023R|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Missense_Mutation_p.H956R	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1263					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CATTGGCGCATGGGCAGTTGG	0.542													9	35					0	0	0	0	C	111891606	T	C	111891606	3	2	342	1	0	0	0	0	1	0	0	0	1215	1464	51	5	161	5	ATXN2	12	111891606	Missense_Mutation	SNP	T	TCGA-CV-A463-01A-11D-A25Y-08	2365445	111891606	21960289	155	64693											
C12orf52	84934	broad.mit.edu	37	chr12	113629518	113629518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtcaggggtgaccttcCggagccccctggtgacttcc	5	8	12	16	2	1	2	1	2	0	0	3	3	3	3	6	4	1	0	6	4	0	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr12:113629518C>T	ENST00000548278.1	+	4	1398	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	C12orf52_ENST00000552495.1_Missense_Mutation_p.R260W|C12orf52_ENST00000549621.1_Missense_Mutation_p.R236W|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	236	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GGTGACCTTCCGGAGCCCCCT	0.617													18	68					0	0	0	0	T	113629518	C	T	113629518	3	4	342	1	0	0	0	0	1	0	0	0	1709	643	23	1	712	1	C12orf52	12	113629518	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	1737912	113629518	20222377	156	64694											
TMEM132D	121256	broad.mit.edu	37	chr12	130184665	130184665	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagctccacgggggtcccctCcggctggtccacggacttcc	4	7	13	17	3	0	0	0	0	0	0	5	2	5	1	6	5	1	2	6	5	0	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr12:130184665C>A	ENST00000422113.2	-	2	984	c.658G>T	c.(658-660)Gag>Tag	p.E220*		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	220						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGGGTCCCCTCCGGCTGGTCC	0.687													16	52					5.01169e-05	5.11683e-05	1	0	A	130184665	C	A	130184665	4	1	342	1	0	0	0	0	0	1	0	0	16141	864	30	2	2673	2	TMEM132D	12	130184665	Nonsense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	16555147	130184665	3667230	157	64695											
GJA3	2700	broad.mit.edu	37	chr13	20717311	20717311	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccacacgtcctccgccgcGgcccccagcaccaagatgcg	7	3	9	22	5	0	1	0	0	0	1	2	1	2	1	8	1	2	1	8	1	1	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr13:20717311G>A	ENST00000241125.3	-	2	293	c.117C>T	c.(115-117)gcC>gcT	p.A39A		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	39					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		CCTCCGCCGCGGCCCCCAGCA	0.602													7	17					0	0	0	0	A	20717311	G	A	20717311	2	1	342	1	0	0	0	0	0	0	0	1	6453	1103	39	1		1	GJA3	13	20717311	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08		20717311	94452567	158	64696											
SACS	26278	broad.mit.edu	37	chr13	23911360	23911360	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaacctgctggttttgtcaGaaatggaaggaagcggattg	13	10	13	5	1	1	1	1	0	0	1	1	4	1	4	1	4	3	2	1	4	5	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr13:23911360G>C	ENST00000382298.3	-	10	7243	c.6655C>G	c.(6655-6657)Ctg>Gtg	p.L2219V	SACS_ENST00000402364.1_Missense_Mutation_p.L1469V|SACS_ENST00000382292.3_Missense_Mutation_p.L2219V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2219					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGTTTTGTCAGAAATGGAAGG	0.378													43	68					0	0	0	0	C	23911360	G	C	23911360	3	2	342	1	0	0	0	0	1	0	0	0	13889	933	33	2	7088	2	SACS	13	23911360	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	3194049	23911360	91258518	159	64697											
PCDH17	27253	broad.mit.edu	37	chr13	58208610	58208610	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcgacccgtccagcggcGagatccgcacgctgcaccct	8	5	11	17	6	0	2	0	0	0	2	3	4	2	2	4	1	2	3	4	1	0	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr13:58208610G>T	ENST00000377918.3	+	1	1956	c.1930G>T	c.(1930-1932)Gag>Tag	p.E644*		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	644	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTCCAGCGGCGAGATCCGCAC	0.662													37	195					4.14481e-20	4.44957e-20	1	0	T	58208610	G	T	58208610	4	4	342	1	0	0	0	0	0	1	0	0	11583	1059	37	3	1932	3	PCDH17	13	58208610	Nonsense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	34297250	58208610	56961268	160	64698											
TBC1D4	9882	broad.mit.edu	37	chr13	75863124	75863124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagttggctattggccctCtccagcttctccaaagtttc	6	15	7	13	0	3	0	1	0	2	0	6	0	3	0	3	2	1	4	3	2	2	6			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr13:75863124C>G	ENST00000377636.3	-	20	3955	c.3609G>C	c.(3607-3609)gaG>gaC	p.E1203D	TBC1D4_ENST00000425511.1_Missense_Mutation_p.E367D|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E1195D|TBC1D4_ENST00000377625.2_Missense_Mutation_p.E1140D	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1203						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TATTGGCCCTCTCCAGCTTCT	0.408													42	138					0	0	0	0	G	75863124	C	G	75863124	3	3	342	1	0	0	0	0	1	0	0	0	15716	912	32	2	295	2	TBC1D4	13	75863124	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	17654514	75863124	39306754	161	64699											
MYCBP2	23077	broad.mit.edu	37	chr13	77644815	77644815	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaatatgattccaaccAtatgttctttcaggtcagca	11	14	7	9	0	3	2	2	2	1	0	4	2	4	2	2	1	3	3	2	1	4	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr13:77644815A>G	ENST00000407578.2	-	69	12121	c.11855T>C	c.(11854-11856)aTg>aCg	p.M3952T	MYCBP2_ENST00000544440.2_Missense_Mutation_p.M3914T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.M3914T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3914					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GATTCCAACCATATGTTCTTT	0.318													42	157					0	0	0	0	G	77644815	A	G	77644815	3	3	342	1	0	0	0	0	1	0	0	0	10088	217	8	5	2241	5	MYCBP2	13	77644815	Missense_Mutation	SNP	A	TCGA-CV-A463-01A-11D-A25Y-08	1781691	77644815	37525063	162	64700											
OR4K2	390431	broad.mit.edu	37	chr14	20344899	20344899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagttatgcattcaatgaGtcaggtcatatttgccctca	10	13	10	8	0	4	1	4	1	0	0	4	2	4	2	1	2	2	2	1	2	3	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr14:20344899G>T	ENST00000298642.2	+	1	509	c.473G>T	c.(472-474)aGt>aTt	p.S158I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	158					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)		CATTCAATGAGTCAGGTCATA	0.488													71	304					3.39796e-24	3.68849e-24	1	0	T	20344899	G	T	20344899	3	4	342	1	0	0	0	0	1	0	0	0	11143	1029	36	4	475	4	OR4K2	14	20344899	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08		20344899	87004641	163	64701											
DCAF11	80344	broad.mit.edu	37	chr14	24586208	24586208	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggactcagaggaagagaatGacagagcttgggatggtcgt	12	8	16	5	1	1	4	1	1	0	3	2	8	1	7	0	4	1	1	0	4	2	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr14:24586208G>C	ENST00000446197.3	+	3	965	c.238G>C	c.(238-240)Gac>Cac	p.D80H	DCAF11_ENST00000396936.1_Start_Codon_SNP_p.M1I|DCAF11_ENST00000560171.1_Intron|DCAF11_ENST00000559115.1_Missense_Mutation_p.D80H|DCAF11_ENST00000396941.4_Missense_Mutation_p.D54H	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	80						CUL4 RING ubiquitin ligase complex	protein binding										GGAAGAGAATGACAGAGCTTG	0.488													32	94					0	0	0	0	C	24586208	G	C	24586208	3	2	342	1	0	0	0	0	1	0	0	0	4295	1290	45	2	244	2	DCAF11	14	24586208	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	4241309	24586208	82763332	164	64702											
GPR135	64582	broad.mit.edu	37	chr14	59931024	59931024	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accggccgcacgcgcacgtcCgacaggcgcaccgtcttgca	7	4	12	18	8	1	0	0	0	1	0	2	1	2	0	4	2	1	4	4	2	0	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr14:59931024C>T	ENST00000395116.1	-	1	1036	c.921G>A	c.(919-921)tcG>tcA	p.S307S		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	307						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		CGCGCACGTCCGACAGGCGCA	0.657													6	23					0	0	0	0	T	59931024	C	T	59931024	2	4	342	1	0	0	0	0	0	0	0	1	6693	639	23	1		1	GPR135	14	59931024	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	35344816	59931024	47418516	165	64703											
RBM25	58517	broad.mit.edu	37	chr14	73563709	73563709	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcagatgattaaaggggcTattgaagttttaattcgtga	13	14	11	3	1	1	4	1	3	0	1	2	5	1	4	0	2	0	2	0	2	5	6			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr14:73563709T>G	ENST00000261973.7	+	7	915	c.630T>G	c.(628-630)gcT>gcG	p.A210A	RBM25_ENST00000540173.1_Silent_p.A210A|RBM25_ENST00000525321.1_Silent_p.A210A|RBM25_ENST00000526754.1_Silent_p.A210A|RBM25_ENST00000527432.1_Silent_p.A210A	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	210					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TTAAAGGGGCTATTGAAGTTT	0.423													24	73					0	0	0	0	G	73563709	T	G	73563709	2	3	342	1	0	0	0	0	0	0	0	1	13207	1509	53	5		5	RBM25	14	73563709	Silent	SNP	T	TCGA-CV-A463-01A-11D-A25Y-08	13632685	73563709	33785831	166	64704											
YLPM1	56252	broad.mit.edu	37	chr14	75266307	75266307	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggggtccgatgcaagctTagactctgaccaaggccttg	9	9	13	10	1	1	2	0	1	1	1	2	4	2	2	3	3	2	2	3	3	3	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr14:75266307T>G	ENST00000325680.7	+	5	4431	c.4307T>G	c.(4306-4308)tTa>tGa	p.L1436*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.L1241*|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATGCAAGCTTAGACTCTGAC	0.478													51	115					0	0	0	0	G	75266307	T	G	75266307	4	3	342	1	0	0	0	0	0	1	0	0	17582	1764	61	5	4325	5	YLPM1	14	75266307	Nonsense_Mutation	SNP	T	TCGA-CV-A463-01A-11D-A25Y-08	1702598	75266307	32083233	167	64705											
DYNC1H1	1778	broad.mit.edu	37	chr14	102510384	102510384	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggatgacacggccaaggCaagtgtgggccatgccagga	10	5	16	10	1	0	1	0	1	0	0	0	3	0	3	3	5	1	2	3	5	2	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr14:102510384C>T	ENST00000360184.4	+	70	12848		c.e70+2		RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACGGCCAAGGCAAGTGTGGGC	0.587													7	29					0	0	0	0	T	102510384	C	T	102510384	5	4	342	1	0	0	0	0	0	0	1	0	4877	724	25	4	12964	4	DYNC1H1	14	102510384	Splice_Site	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	27244077	102510384	4839156	168	64706											
NDN	4692	broad.mit.edu	37	chr15	23932117	23932117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccggctgggccgcgctcGgggcctggtgggcgcggccc	0	4	21	16	6	0	0	0	0	0	0	1	0	0	0	4	8	0	2	4	8	0	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr15:23932117G>A	ENST00000331837.4	-	1	333	c.248C>T	c.(247-249)cCg>cTg	p.P83L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	83					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGCCGCGCTCGGGGCCTGGTG	0.761									Prader-Willi syndrome				15	17					0	0	0	0	A	23932117	G	A	23932117	3	1	342	1	0	0	0	0	1	0	0	0	10317	1116	39	1	721	1	NDN	15	23932117	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08		23932117	78599275	169	64707											
PLA2G4D	283748	broad.mit.edu	37	chr15	42364056	42364056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaagagctcaggagggaCgaaggccccgtacttcagga	11	4	15	11	3	2	1	2	0	0	1	2	6	2	4	3	4	2	2	3	4	3	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr15:42364056C>T	ENST00000290472.3	-	15	1583	c.1489G>A	c.(1489-1491)Gtc>Atc	p.V497I		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	497	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TCAGGAGGGACGAAGGCCCCG	0.602													20	34					0	0	0	0	T	42364056	C	T	42364056	3	4	342	1	0	0	0	0	1	0	0	0	12076	536	19	1	991	1	PLA2G4D	15	42364056	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	18431939	42364056	60167336	170	64708											
TP53BP1	7158	broad.mit.edu	37	chr15	43748855	43748855	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctttaatttccatagcttCctcctgatctaacacactag	10	16	3	12	0	2	1	0	1	2	0	5	1	5	1	3	0	2	1	3	0	4	8			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr15:43748855C>A	ENST00000263801.3	-	12	2188	c.1936G>T	c.(1936-1938)Gaa>Taa	p.E646*	TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E651*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E651*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E651*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	646					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCCATAGCTTCCTCCTGATCT	0.473								Other conserved DNA damage response genes					40	102					1.58521e-26	1.72716e-26	1	0	A	43748855	C	A	43748855	4	1	342	1	0	0	0	0	0	1	0	0	16478	864	30	2	4050	2	TP53BP1	15	43748855	Nonsense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	1384799	43748855	58782537	171	64709											
MAP1A	4130	broad.mit.edu	37	chr15	43813678	43813678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactctgcccaccatggacGgcgtggctgagttctccgag	6	8	12	15	3	2	1	0	1	2	0	3	3	2	2	4	3	1	2	4	3	0	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr15:43813678G>A	ENST00000382031.1	+	5	752	c.721G>A	c.(721-723)Ggc>Agc	p.G241S	MAP1A_ENST00000399453.1_Missense_Mutation_p.G3S|MAP1A_ENST00000300231.5_Missense_Mutation_p.G3S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	3						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACCATGGACGGCGTGGCTGA	0.592													26	58					0	0	0	0	A	43813678	G	A	43813678	3	1	342	1	0	0	0	0	1	0	0	0	9296	1116	39	1	9	1	MAP1A	15	43813678	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	64823	43813678	58717714	172	64710											
UNC13C	440279	broad.mit.edu	37	chr15	54542488	54542488	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcttctaccatcccacaCaattttgaggtctggacggc	9	12	8	12	1	3	1	0	1	3	0	4	2	4	2	2	3	1	0	2	3	2	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr15:54542488C>T	ENST00000545554.1	+	7	3294	c.3294C>T	c.(3292-3294)caC>caT	p.H1098H	UNC13C_ENST00000260323.11_Silent_p.H1098H|UNC13C_ENST00000537900.1_Silent_p.H1096H			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1098					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCATCCCACACAATTTTGAGG	0.502													20	50					0	0	0	0	T	54542488	C	T	54542488	2	4	342	1	0	0	0	0	0	0	0	1	17082	477	17	4		4	UNC13C	15	54542488	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	10728810	54542488	47988904	173	64711											
STARD5	80765	broad.mit.edu	37	chr15	81605705	81605705	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaggtaaccgctgaggtcGgtatggaagaatgtgaccag	11	7	17	6	2	0	3	0	2	0	1	1	5	0	5	2	5	1	3	2	5	4	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr15:81605705G>T	ENST00000302824.6	-	6	559	c.534C>A	c.(532-534)acC>acA	p.T178T		NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	178	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding	p.T178T(1)		large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						CGCTGAGGTCGGTATGGAAGA	0.557													30	66					1.39806e-14	1.48448e-14	1	0	T	81605705	G	T	81605705	2	4	342	1	0	0	0	0	0	0	0	1	15350	1103	39	3		3	STARD5	15	81605705	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	27063217	81605705	20925687	174	64712											
IQGAP1	8826	broad.mit.edu	37	chr15	91034630	91034630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaaaacacctgacaagatGaaaaagtcaaaatctgtaaa	21	6	6	8	0	2	3	1	2	1	1	2	3	2	3	2	0	1	1	2	0	9	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr15:91034630G>A	ENST00000268182.5	+	34	4438	c.4314G>A	c.(4312-4314)atG>atA	p.M1438I	IQGAP1_ENST00000560738.1_Missense_Mutation_p.M866I	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1438	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTGACAAGATGAAAAAGTCAA	0.428													9	71					0	0	0	0	A	91034630	G	A	91034630	3	1	342	1	0	0	0	0	1	0	0	0	7867	1290	45	2	4448	2	IQGAP1	15	91034630	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	9428925	91034630	11496762	175	64713											
C16orf71	146562	broad.mit.edu	37	chr16	4796395	4796395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgtgcctcaaggaagcagGgctcccaggctgggccaggc	8	5	16	12	0	1	0	1	0	0	0	2	2	2	1	3	5	2	3	3	5	2	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr16:4796395G>A	ENST00000299320.5	+	7	1541	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S	C16orf71_ENST00000590191.1_Missense_Mutation_p.G369S|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	355										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						AAGGAAGCAGGGCTCCCAGGC	0.567													15	60					0	0	0	0	A	4796395	G	A	4796395	3	1	342	1	0	0	0	0	1	0	0	0	1843	1232	43	4	1085	4	C16orf71	16	4796395	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08		4796395	85558358	176	64714											
NAGPA	51172	broad.mit.edu	37	chr16	5081808	5081808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtagatgcttccattaCgaatcagccacacgacccca	12	9	7	13	2	1	2	1	1	0	1	2	4	2	2	4	0	3	2	4	0	3	3	rs145897634		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr16:5081808C>T	ENST00000312251.3	-	3	639	c.620G>A	c.(619-621)cGt>cAt	p.R207H	NAGPA_ENST00000381955.3_Missense_Mutation_p.R207H|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	207					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCTTCCATTACGAATCAGCCA	0.562													57	163					0	0	0	0	T	5081808	C	T	5081808	3	4	342	1	0	0	0	0	1	0	0	0	10214	536	19	1	959	1	NAGPA	16	5081808	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	285413	5081808	85272945	177	64715											
SULT1A2	6799	broad.mit.edu	37	chr16	28603676	28603676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcttcatctccttgaacGacgtgtgctcaaccatgagg	8	13	8	12	2	5	2	2	2	3	0	6	3	5	2	2	1	3	1	2	1	2	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr16:28603676G>A	ENST00000533150.1	-	3	1700	c.584C>T	c.(583-585)tCg>tTg	p.S195L	SULT1A2_ENST00000335715.4_Missense_Mutation_p.S228L|SULT1A2_ENST00000395630.1_Missense_Mutation_p.S228L			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	228					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						CTCCTTGAACGACGTGTGCTC	0.547													48	101					0	0	0	0	A	28603676	G	A	28603676	3	1	342	1	0	0	0	0	1	0	0	0	15463	1059	37	1	212	1	SULT1A2	16	28603676	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	23521868	28603676	61751077	178	64716											
ZNF423	23090	broad.mit.edu	37	chr16	49670849	49670849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgctgtgcttcaccgccagGtgcacctggatggacacctt	6	11	11	13	1	1	0	1	0	0	0	1	2	1	2	4	3	3	3	4	3	0	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr16:49670849G>A	ENST00000561648.1	-	4	2267	c.2214C>T	c.(2212-2214)caC>caT	p.H738H	ZNF423_ENST00000562871.1_Silent_p.H678H|ZNF423_ENST00000563137.2_Silent_p.H678H|ZNF423_ENST00000562520.1_Silent_p.H678H|ZNF423_ENST00000262383.2_Silent_p.H738H|ZNF423_ENST00000567169.1_Silent_p.H621H|ZNF423_ENST00000535559.1_Silent_p.H621H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	738					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCACCGCCAGGTGCACCTGGA	0.567													16	35					0	0	0	0	A	49670849	G	A	49670849	2	1	342	1	0	0	0	0	0	0	0	1	17993	1252	44	4		4	ZNF423	16	49670849	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	21067173	49670849	40683904	179	64717											
CES1	1066	broad.mit.edu	37	chr16	55844898	55844898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctggtccagttgcccttCggagagtggatagctcatca	7	12	11	11	1	3	1	2	0	1	1	5	3	4	2	2	3	2	2	2	3	1	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr16:55844898C>T	ENST00000422046.2	-	10	1386	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	CES1_ENST00000361503.4_Missense_Mutation_p.E370K|CES1_ENST00000360526.3_Missense_Mutation_p.E371K			P23141	EST1_HUMAN	carboxylesterase 1	370					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)	AGTTGCCCTTCGGAGAGTGGA	0.423													9	41					0	0	0	0	T	55844898	C	T	55844898	3	4	342	1	0	0	0	0	1	0	0	0	3298	893	31	1	615	1	CES1	16	55844898	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	6174049	55844898	34509855	180	64718											
AARS	16	broad.mit.edu	37	chr16	70310999	70310999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttctgggtattggcagctCtgctcagctttgccatgggg	5	13	13	10	0	3	0	1	0	2	0	3	0	3	0	1	4	4	5	1	4	1	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr16:70310999C>T	ENST00000261772.8	-	3	346	c.203G>A	c.(202-204)aGa>aAa	p.R68K		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	68					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	ATTGGCAGCTCTGCTCAGCTT	0.483													24	55					0	0	0	0	T	70310999	C	T	70310999	3	4	342	1	0	0	0	0	1	0	0	0	19	913	32	2	2779	2	AARS	16	70310999	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	14466101	70310999	20043754	181	64719											
WDR59	79726	broad.mit.edu	37	chr16	74908238	74908238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaattggacgatccccGcacagccacgtgacagatgg	12	5	12	12	3	0	3	0	1	0	2	1	5	1	4	3	2	1	2	3	2	1	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr16:74908238G>A	ENST00000262144.6	-	26	2924	c.2794C>T	c.(2794-2796)Cgg>Tgg	p.R932W		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	932										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GACGATCCCCGCACAGCCACG	0.627													14	39					0	0	0	0	A	74908238	G	A	74908238	3	1	342	1	0	0	0	0	1	0	0	0	17404	1086	38	1	134	1	WDR59	16	74908238	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	4597239	74908238	15446515	182	64720											
RNMTL1	55178	broad.mit.edu	37	chr17	685847	685847	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aacgagagaaacaaccgctcGaggagtccgcatcccgcgct	12	4	11	14	6	0	1	0	0	0	1	3	5	2	2	3	1	3	3	3	1	3	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr17:685847G>C	ENST00000304478.4	+	1	335	c.229G>C	c.(229-231)Gag>Cag	p.E77Q		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	77					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		ACAACCGCTCGAGGAGTCCGC	0.617													9	30					0	0	0	0	C	685847	G	C	685847	3	2	342	1	0	0	0	0	1	0	0	0	13592	1059	37	3	231	3	RNMTL1	17	685847	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08		685847	80509363	183	64721											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2923848	2923848	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggggctcttcccccgcctGcacacgggctcagaaggcca	6	6	12	17	3	2	1	1	0	1	1	4	1	3	1	4	4	1	3	4	4	1	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr17:2923848G>T	ENST00000254695.8	+	19	1800	c.1710G>T	c.(1708-1710)ctG>ctT	p.L570L	RAP1GAP2_ENST00000366401.4_Silent_p.L555L|RAP1GAP2_ENST00000542807.1_Silent_p.L570L|RAP1GAP2_ENST00000540393.2_Silent_p.L551L	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	570					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TCCCCCGCCTGCACACGGGCT	0.627													7	21					0.248553	0.248553	1	0	T	2923848	G	T	2923848	2	4	342	1	0	0	0	0	0	0	0	1	13120	1306	46	4		4	RAP1GAP2	17	2923848	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	2238001	2923848	78271362	184	64722											
KIF1C	10749	broad.mit.edu	37	chr17	4907160	4907160	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccaggaaggagccaacatCaataagtccctgactacact	14	8	7	12	0	1	1	1	1	0	0	3	3	3	3	3	2	3	0	3	2	5	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr17:4907160C>T	ENST00000320785.5	+	10	1170	c.813C>T	c.(811-813)atC>atT	p.I271I		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	271	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GAGCCAACATCAATAAGTCCC	0.532													22	74					0	0	0	0	T	4907160	C	T	4907160	2	4	342	1	0	0	0	0	0	0	0	1	8336	816	29	2		2	KIF1C	17	4907160	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	1983312	4907160	76288050	185	64723											
ALOX12	239	broad.mit.edu	37	chr17	6905055	6905055	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagatccagtatcacttgctGaacactcacctggtggctga	10	10	10	11	0	2	3	2	2	0	1	3	4	3	3	2	2	2	3	2	2	2	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr17:6905055G>A	ENST00000251535.6	+	8	1139	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399540.2_3'UTR|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	362	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATCACTTGCTGAACACTCACC	0.532													28	124					0	0	0	0	A	6905055	G	A	6905055	2	1	342	1	0	0	0	0	0	0	0	1	536	1277	45	2		2	ALOX12	17	6905055	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	1997895	6905055	74290155	186	64724											
TP53	7157	broad.mit.edu	37	chr17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcctctgtgcgccggtctCtcccaggacaggcacaaaca	8	8	9	16	2	2	0	0	0	2	0	5	1	4	1	3	3	2	1	3	3	1	1	rs121912660		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr17:7577099C>T	ENST00000420246.2	-	8	971	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000359597.4_Missense_Mutation_p.R280K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	42					0	0	0	0	T	7577099	C	T	7577099	3	4	342	1	0	0	0	0	1	0	0	0	16476	913	32	2	447	2	TP53	17	7577099	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	672044	7577099	73618111	187	64725											
ZNF624	57547	broad.mit.edu	37	chr17	16527243	16527243	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggatttttttgtgctgactGagatatgaaggctggctgaa	9	15	13	4	0	0	4	0	4	0	1	0	6	0	5	0	3	1	3	0	3	3	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr17:16527243G>C	ENST00000311331.7	-	6	1048	c.957C>G	c.(955-957)ctC>ctG	p.L319L		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGTGCTGACTGAGATATGAAG	0.348													28	104					0	0	0	0	C	16527243	G	C	16527243	2	2	342	1	0	0	0	0	0	0	0	1	18143	1277	45	2		2	ZNF624	17	16527243	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	8950144	16527243	64667967	188	64726											
SUPT6H	6830	broad.mit.edu	37	chr17	27005865	27005865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctgcggatccgtaaagaGaacctaacacggctgtttga	12	8	11	10	3	0	2	0	1	0	1	1	4	1	3	2	2	4	4	2	2	4	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr17:27005865G>A	ENST00000314616.6	+	11	1516	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	SUPT6H_ENST00000347486.4_Silent_p.E411E	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	411					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCCGTAAAGAGAACCTAACAC	0.522													21	73					0	0	0	0	A	27005865	G	A	27005865	2	1	342	1	0	0	0	0	0	0	0	1	15490	933	33	2		2	SUPT6H	17	27005865	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	10478622	27005865	54189345	189	64727											
MLLT6	4302	broad.mit.edu	37	chr17	36868959	36868959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagagtcgaaaggacaaaGaacgccttaagcagaagcac	17	4	10	10	2	0	3	0	0	0	3	2	5	1	4	2	1	3	2	2	1	5	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr17:36868959G>A	ENST00000325718.7	+	8	827	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	MLLT6_ENST00000378137.5_Missense_Mutation_p.E246K	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	246					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AAAGGACAAAGAACGCCTTAA	0.587			T	MLL	AL								26	65					0	0	0	0	A	36868959	G	A	36868959	3	1	342	1	0	0	0	0	1	0	0	0	9699	943	33	2	766	2	MLLT6	17	36868959	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	9863094	36868959	44326251	190	64728											
BRIP1	83990	broad.mit.edu	37	chr17	59821817	59821817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcctttgtatttgattgCgtcatagtacacctgcagta	8	16	7	10	1	2	1	1	1	1	0	3	1	2	1	2	0	3	4	2	0	4	7			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr17:59821817C>T	ENST00000259008.2	-	15	2500	c.2233G>A	c.(2233-2235)Gca>Aca	p.A745T	BRIP1_ENST00000577598.1_Missense_Mutation_p.A745T	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	745					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TATTTGATTGCGTCATAGTAC	0.323			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					53	150					0	0	0	0	T	59821817	C	T	59821817	3	4	342	1	0	0	0	0	1	0	0	0	1522	768	27	1	1540	1	BRIP1	17	59821817	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	22952858	59821817	21373393	191	64729											
NAT9	26151	broad.mit.edu	37	chr17	72767908	72767908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaggcttctcttccacGtggctggtctgctccagaag	6	12	11	12	1	2	1	0	0	2	1	5	1	4	1	2	3	1	4	2	3	2	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr17:72767908G>A	ENST00000357814.3	-	7	652	c.579C>T	c.(577-579)caC>caT	p.H193H	NAT9_ENST00000583476.1_3'UTR|NAT9_ENST00000582524.1_3'UTR|NAT9_ENST00000583757.1_3'UTR|NAT9_ENST00000582870.1_Silent_p.H197H|NAT9_ENST00000581136.1_Silent_p.H188H|NAT9_ENST00000580632.1_Silent_p.H193H|NAT9_ENST00000578822.1_Silent_p.H198H|NAT9_ENST00000580301.1_Silent_p.H192H	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	193						protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						TCTCTTCCACGTGGCTGGTCT	0.592													18	40					0	0	0	0	A	72767908	G	A	72767908	2	1	342	1	0	0	0	0	0	0	0	1	10252	1136	40	1		1	NAT9	17	72767908	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	12946091	72767908	8427302	192	64730											
AFMID	125061	broad.mit.edu	37	chr17	76201746	76201746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcacagccggtggaccccaCctgccgtgtgctggtggtcg	4	7	16	14	3	0	0	0	0	0	0	1	1	0	1	5	5	3	2	5	5	0	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr17:76201746C>T	ENST00000409257.5	+	9	761	c.707C>T	c.(706-708)aCc>aTc	p.T236I	AFMID_ENST00000588800.1_Intron|AFMID_ENST00000327898.5_Missense_Mutation_p.T236I|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000591952.1_Intron	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	236						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GTGGACCCCACCTGCCGTGTG	0.642													12	34					0	0	0	0	T	76201746	C	T	76201746	3	4	342	1	0	0	0	0	1	0	0	0	362	507	18	4	741	4	AFMID	17	76201746	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	3433838	76201746	4993464	193	64731											
TUBB6	84617	broad.mit.edu	37	chr18	12311045	12311045	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttccggcctgacaacttCatctttggtaggttccatct	6	16	7	12	1	3	1	1	1	2	0	5	1	5	1	3	3	1	2	3	3	2	6			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr18:12311045C>T	ENST00000317702.5	+	3	504	c.270C>T	c.(268-270)ttC>ttT	p.F90F	TUBB6_ENST00000590967.1_Silent_p.F90F|TUBB6_ENST00000592683.1_Silent_p.F90F|TUBB6_ENST00000586653.1_Silent_p.F90F|TUBB6_ENST00000591208.1_Silent_p.F90F|TUBB6_ENST00000591909.1_Silent_p.F90F			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	90					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CTGACAACTTCATCTTTGGTA	0.438													14	30					0	0	0	0	T	12311045	C	T	12311045	2	4	342	1	0	0	0	0	0	0	0	1	16856	825	29	2		2	TUBB6	18	12311045	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08		12311045	65766203	194	64732											
CABYR	26256	broad.mit.edu	37	chr18	21739723	21739723	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacagggatggaaacctcttCctggacatgctgtcgtttca	9	11	10	11	1	2	0	1	0	1	0	4	3	3	3	2	3	2	2	2	3	1	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr18:21739723C>G	ENST00000399496.3	+	5	994	c.829C>G	c.(829-831)Cct>Gct	p.P277A	CABYR_ENST00000415309.2_Intron|CABYR_ENST00000327201.6_Missense_Mutation_p.P179A|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000581397.1_Missense_Mutation_p.P277A|CABYR_ENST00000399499.1_Missense_Mutation_p.P277A	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	0					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					GAAACCTCTTCCTGGACATGC	0.458													28	65					0	0	0	0	G	21739723	C	G	21739723	3	3	342	1	0	0	0	0	1	0	0	0	2561	855	30	2	1784	2	CABYR	18	21739723	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	9428678	21739723	56337525	195	64733											
ZNF521	25925	broad.mit.edu	37	chr18	22806933	22806933	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaactgtgtggaaactctCagaacaaatgctgcatgagt	13	10	9	9	0	2	2	2	1	1	1	3	3	2	3	0	1	5	2	0	1	4	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr18:22806933C>G	ENST00000361524.3	-	4	1097	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	ZNF521_ENST00000538137.2_Missense_Mutation_p.E317Q|ZNF521_ENST00000584787.1_Missense_Mutation_p.E97Q	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	317					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGAAACTCTCAGAACAAATG	0.537			T	PAX5	ALL								21	39					0	0	0	0	G	22806933	C	G	22806933	3	3	342	1	0	0	0	0	1	0	0	0	18060	835	29	2	3006	2	ZNF521	18	22806933	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	1067210	22806933	55270315	196	64734											
KCTD1	284252	broad.mit.edu	37	chr18	24081100	24081100	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtggccgcccacatcaaTgtggacaggcgcattggatt	9	9	12	11	2	1	0	1	0	0	0	1	2	1	2	2	4	0	1	2	4	1	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr18:24081100T>A	ENST00000417602.1	-	2	1923	c.1924A>T	c.(1924-1926)Att>Ttt	p.I642F	KCTD1_ENST00000579973.1_Missense_Mutation_p.I34F|KCTD1_ENST00000580059.1_Missense_Mutation_p.I34F|KCTD1_ENST00000317932.7_Missense_Mutation_p.I34F|KCTD1_ENST00000408011.3_Missense_Mutation_p.I34F	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	34					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CCCACATCAATGTGGACAGGC	0.502													19	103					0	0	0	0	A	24081100	T	A	24081100	3	1	342	1	0	0	0	0	1	0	0	0	8149	1464	51	5	689	5	KCTD1	18	24081100	Missense_Mutation	SNP	T	TCGA-CV-A463-01A-11D-A25Y-08	1274167	24081100	53996148	197	64735											
DSC2	1824	broad.mit.edu	37	chr18	28666594	28666594	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcctgtagttggatgcataGaaaatagggtgggtgatggt	10	11	16	4	1	0	2	0	1	0	1	0	3	0	3	1	4	1	3	1	4	5	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr18:28666594G>C	ENST00000280904.6	-	7	1330	c.887C>G	c.(886-888)tCt>tGt	p.S296C	DSC2_ENST00000251081.6_Missense_Mutation_p.S296C	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	296	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGGATGCATAGAAAATAGGGT	0.458													27	97					0	0	0	0	C	28666594	G	C	28666594	3	2	342	1	0	0	0	0	1	0	0	0	4802	942	33	2	1898	2	DSC2	18	28666594	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	4585494	28666594	49410654	198	64736											
MAPK4	5596	broad.mit.edu	37	chr18	48255618	48255618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgacccgcgcgcgggttcGgcgccactggctgaggacgt	4	5	17	15	9	0	1	0	1	0	0	1	3	0	2	2	4	0	2	2	4	0	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr18:48255618G>A	ENST00000400384.2	+	6	2194	c.1158G>A	c.(1156-1158)tcG>tcA	p.S386S	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.S175S	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	386					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCGCGGGTTCGGCGCCACTGG	0.697													9	19					0	0	0	0	A	48255618	G	A	48255618	2	1	342	1	0	0	0	0	0	0	0	1	9349	1103	39	1		1	MAPK4	18	48255618	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	19589024	48255618	29821630	199	64737											
FUT6	2528	broad.mit.edu	37	chr19	5831884	5831884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggacagcgtctccatcatgGttccctggggcaggggcttg	5	9	16	11	1	2	0	1	0	1	0	4	1	3	1	2	6	1	3	2	6	0	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr19:5831884G>T	ENST00000318336.4	-	3	1889	c.695C>A	c.(694-696)aCc>aAc	p.T232N	FUT6_ENST00000592563.1_Missense_Mutation_p.T232N|FUT6_ENST00000524754.1_Missense_Mutation_p.T232N|FUT6_ENST00000286955.5_Missense_Mutation_p.T232N|FUT6_ENST00000527106.1_Missense_Mutation_p.T232N	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	232					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CTCCATCATGGTTCCCTGGGG	0.617													43	124					4.14194e-30	4.52976e-30	1	0	T	5831884	G	T	5831884	3	4	342	1	0	0	0	0	1	0	0	0	6156	1261	44	4	388	4	FUT6	19	5831884	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08		5831884	53297099	200	64738											
RAB11B	9230	broad.mit.edu	37	chr19	8464939	8464939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcgctaccgcgccatcacctCcgcgtgcgtgtcggcagcct	4	7	12	18	7	1	0	1	0	0	0	3	0	2	0	5	1	3	2	5	1	1	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr19:8464939C>T	ENST00000328024.6	+	2	451	c.233C>T	c.(232-234)tCc>tTc	p.S78F	RAB11B_ENST00000594216.1_Missense_Mutation_p.S78F|RAB11B_ENST00000601897.1_Intron	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	78					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						GCCATCACCTCCGCGTGCGTG	0.672													12	35					0	0	0	0	T	8464939	C	T	8464939	3	4	342	1	0	0	0	0	1	0	0	0	12974	855	30	2	239	2	RAB11B	19	8464939	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	2633055	8464939	50664044	201	64739											
ZNF562	54811	broad.mit.edu	37	chr19	9763749	9763749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttctatgttgagtaagcGttgaagatctattgaaggct	10	16	10	5	1	3	4	0	3	3	1	3	4	3	4	0	1	1	4	0	1	5	8			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr19:9763749G>A	ENST00000448622.1	-	6	1319	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	ZNF562_ENST00000293648.4_Missense_Mutation_p.T314M|ZNF562_ENST00000453372.2_Missense_Mutation_p.T386M|ZNF562_ENST00000537617.1_Missense_Mutation_p.T270M|ZNF562_ENST00000453792.2_Missense_Mutation_p.T317M|ZNF562_ENST00000590155.1_Missense_Mutation_p.T385M|ZNF562_ENST00000541032.1_Missense_Mutation_p.T349M	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T314M(1)|p.T386M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGAGTAAGCGTTGAAGATCT	0.413													31	96					0	0	0	0	A	9763749	G	A	9763749	3	1	342	1	0	0	0	0	1	0	0	0	18088	1145	40	1	127	1	ZNF562	19	9763749	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	1298810	9763749	49365234	202	64740											
ABHD8	79575	broad.mit.edu	37	chr19	17411961	17411961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaatatggatggtcctCttggggcgcctggctcgccg	5	10	14	12	3	2	0	1	0	1	0	4	1	3	1	3	5	0	1	3	5	2	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr19:17411961C>A	ENST00000247706.3	-	2	704	c.465G>T	c.(463-465)aaG>aaT	p.K155N	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	155							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GGATGGTCCTCTTGGGGCGCC	0.682													30	67					2.12542e-12	2.24863e-12	1	0	A	17411961	C	A	17411961	3	1	342	1	0	0	0	0	1	0	0	0	87	912	32	2	870	2	ABHD8	19	17411961	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	7648212	17411961	41717022	203	64741											
ZNF536	9745	broad.mit.edu	37	chr19	30934871	30934871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcaagtacccgtgcccactCtgcggcaagcgcttccgctt	6	8	10	17	5	1	0	0	0	1	0	2	0	2	0	3	1	4	5	3	1	3	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr19:30934871C>T	ENST00000355537.3	+	2	549	c.402C>T	c.(400-402)ctC>ctT	p.L134L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L134L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGTGCCCACTCTGCGGCAAGC	0.627													13	41					0	0	0	0	T	30934871	C	T	30934871	2	4	342	1	0	0	0	0	0	0	0	1	18069	900	32	2		2	ZNF536	19	30934871	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	13522910	30934871	28194112	204	64742											
SLC7A9	11136	broad.mit.edu	37	chr19	33353089	33353089	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccacagacagctgggcGccctcgaaagaattatcaaa	13	6	9	13	2	1	2	1	0	0	2	3	3	2	2	2	1	1	2	2	1	4	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr19:33353089G>A	ENST00000023064.4	-	6	830	c.639C>T	c.(637-639)ggC>ggT	p.G213G	SLC7A9_ENST00000590341.1_Silent_p.G213G|SLC7A9_ENST00000587772.1_Silent_p.G213G	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	213					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ACAGCTGGGCGCCCTCGAAAG	0.537													15	65					0	0	0	0	A	33353089	G	A	33353089	2	1	342	1	0	0	0	0	0	0	0	1	14793	1074	38	1		1	SLC7A9	19	33353089	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	2418218	33353089	25775894	205	64743											
NCCRP1	342897	broad.mit.edu	37	chr19	39691054	39691054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgctggcggccgaccgccGcacggtcattgctcagcacc	5	6	13	17	5	2	0	2	0	0	0	2	1	2	0	4	3	3	5	4	3	0	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr19:39691054G>A	ENST00000339852.4	+	5	639	c.617G>A	c.(616-618)cGc>cAc	p.R206H		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	206	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GCCGACCGCCGCACGGTCATT	0.682													44	86					0	0	0	0	A	39691054	G	A	39691054	3	1	342	1	0	0	0	0	1	0	0	0	10283	1087	38	1	635	1	NCCRP1	19	39691054	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	6337965	39691054	19437929	206	64744											
ZNF576	79177	broad.mit.edu	37	chr19	44103203	44103203	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgccaagcccaccctgccGgttgcaaccactactgccca	8	5	8	20	2	0	0	0	0	0	0	0	0	0	0	7	1	6	2	7	1	3	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr19:44103203G>A	ENST00000336564.4	+	3	460	c.306G>A	c.(304-306)ccG>ccA	p.P102P	ZNF576_ENST00000525771.1_Silent_p.P102P|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000391965.2_Silent_p.P102P|ZNF576_ENST00000533118.1_Silent_p.P102P|ZNF576_ENST00000529930.1_Silent_p.P102P|ZNF576_ENST00000528387.1_Silent_p.P102P|SRRM5_ENST00000607544.1_Intron	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				CCACCCTGCCGGTTGCAACCA	0.632													35	82					0	0	0	0	A	44103203	G	A	44103203	2	1	342	1	0	0	0	0	0	0	0	1	18103	1103	39	1		1	ZNF576	19	44103203	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	4412149	44103203	15025780	207	64745											
BCAT2	587	broad.mit.edu	37	chr19	49303334	49303334	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagccggcggatgcactcCagcaactccagcttgtcgaa	10	7	11	13	3	0	1	0	1	0	0	3	3	2	2	3	2	5	3	3	2	2	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr19:49303334C>T	ENST00000402551.1	-	6	935	c.315G>A	c.(313-315)ctG>ctA	p.L105L	BCAT2_ENST00000598162.1_Silent_p.L145L|BCAT2_ENST00000597011.1_Silent_p.L105L|BCAT2_ENST00000545387.2_Silent_p.L53L|BCAT2_ENST00000316273.6_Silent_p.L145L|BCAT2_ENST00000599246.1_Silent_p.L53L			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	145						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GGATGCACTCCAGCAACTCCA	0.657													10	54					0	0	0	0	T	49303334	C	T	49303334	2	4	342	1	0	0	0	0	0	0	0	1	1359	581	21	4		4	BCAT2	19	49303334	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	5200131	49303334	9825649	208	64746											
NAPSA	9476	broad.mit.edu	37	chr19	50861874	50861874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccgcgagtgcgagcgCgcgccaggcccacccgggcg	4	2	16	19	9	0	0	0	0	0	0	1	2	1	0	5	2	2	1	5	2	0	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr19:50861874C>T	ENST00000253719.2	-	9	1407	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	400					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AGTGCGAGCGCGCGCCAGGCC	0.701													4	22					0	0	0	0	T	50861874	C	T	50861874	3	4	342	1	0	0	0	0	1	0	0	0	10236	768	27	1	67	1	NAPSA	19	50861874	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	1558540	50861874	8267109	209	64747											
NKG7	4818	broad.mit.edu	37	chr19	51875635	51875635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacacccattccccttacctGatatgatgtccccatgccct	8	11	5	17	0	0	2	0	2	0	0	2	3	2	2	7	0	2	0	7	0	2	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr19:51875635G>A	ENST00000221978.5	-	1	334	c.155C>T	c.(154-156)tCa>tTa	p.S52L	NKG7_ENST00000600427.1_Missense_Mutation_p.S52L|NKG7_ENST00000595217.1_Missense_Mutation_p.S52L	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	52						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCCTTACCTGATATGATGTC	0.582													59	180					0	0	0	0	A	51875635	G	A	51875635	3	1	342	1	0	0	0	0	1	0	0	0	10513	1294	45	2	358	2	NKG7	19	51875635	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	1013761	51875635	7253348	210	64748											
ZNF264	9422	broad.mit.edu	37	chr19	57723159	57723159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctggagttaagccctatGaatgcacagaatgtgggaaa	14	9	11	7	0	1	2	0	1	1	1	1	4	1	4	1	2	2	2	1	2	5	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr19:57723159G>C	ENST00000263095.6	+	4	1108	c.694G>C	c.(694-696)Gaa>Caa	p.E232Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.E232Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TAAGCCCTATGAATGCACAGA	0.423													22	67					0	0	0	0	C	57723159	G	C	57723159	3	2	342	1	0	0	0	0	1	0	0	0	17899	1291	45	2	708	2	ZNF264	19	57723159	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	5847524	57723159	1405824	211	64749											
SPEF1	25876	broad.mit.edu	37	chr20	3759999	3759999	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcagcctcttcagtaccttCctgaggggtagacattggga	8	12	11	10	0	3	2	2	1	1	1	4	3	4	3	3	3	2	2	3	3	2	6			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr20:3759999C>T	ENST00000379756.3	-	3	382	c.221_splice	c.e3-1	p.R74_splice	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	74						cilium axoneme|cytoplasm|cytoskeleton				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TCAGTACCTTCCTGAGGGGTA	0.582													5	10					0	0	0	0	T	3759999	C	T	3759999	5	4	342	1	0	0	0	0	0	0	1	0	15124	869	30	2	508	2	SPEF1	20	3759999	Splice_Site	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08		3759999	59265521	212	64750											
RBM12	10137	broad.mit.edu	37	chr20	34240936	34240936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtccacctccaaaacccGgaacatccagtcctagacca	12	7	6	16	1	0	1	0	0	0	1	4	2	4	2	7	2	2	0	7	2	4	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr20:34240936G>A	ENST00000374114.3	-	3	2572	c.2309C>T	c.(2308-2310)cCg>cTg	p.P770L	RBM12_ENST00000359646.1_Missense_Mutation_p.P770L|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P770L|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	770	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCCAAAACCCGGAACATCCAG	0.557													29	104					0	0	0	0	A	34240936	G	A	34240936	3	1	342	1	0	0	0	0	1	0	0	0	13195	1116	39	1	493	1	RBM12	20	34240936	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	30480937	34240936	28784584	213	64751											
PHF20	51230	broad.mit.edu	37	chr20	34505468	34505468	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgatgatgagtatggcCaagatgtggatgtgaccacc	11	9	15	6	0	0	5	0	4	0	1	0	7	0	7	3	3	0	1	3	3	2	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr20:34505468C>T	ENST00000374012.3	+	13	2017	c.1888C>T	c.(1888-1890)Caa>Taa	p.Q630*	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGAGTATGGCCAAGATGTGGA	0.478													5	21					0	0	0	0	T	34505468	C	T	34505468	4	4	342	1	0	0	0	0	0	1	0	0	11903	595	21	4	1934	4	PHF20	20	34505468	Nonsense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	264532	34505468	28520052	214	64752											
RBL1	5933	broad.mit.edu	37	chr20	35661180	35661180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggagaagcaccaattaatGaatgagcagtaagtgataca	17	9	10	5	0	0	4	0	3	0	1	0	5	0	4	1	1	3	3	1	1	6	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr20:35661180G>A	ENST00000373664.3	-	16	2336	c.2270C>T	c.(2269-2271)tCa>tTa	p.S757L	RBL1_ENST00000344359.3_Missense_Mutation_p.S757L	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	757	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				ACCAATTAATGAATGAGCAGT	0.423													60	154					0	0	0	0	A	35661180	G	A	35661180	3	1	342	1	0	0	0	0	1	0	0	0	13191	1294	45	2	973	2	RBL1	20	35661180	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	1155712	35661180	27364340	215	64753											
IFT52	51098	broad.mit.edu	37	chr20	42271216	42271216	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caacaggatgccaaacatatCcttgagcacgtcttcttcca	12	10	6	13	1	2	1	0	1	2	0	4	2	4	2	3	1	4	1	3	1	3	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr20:42271216C>T	ENST00000373030.3	+	13	1348	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	IFT52_ENST00000471199.1_3'UTR|IFT52_ENST00000373039.4_Silent_p.I406I	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	406						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCAAACATATCCTTGAGCACG	0.458													17	41					0	0	0	0	T	42271216	C	T	42271216	2	4	342	1	0	0	0	0	0	0	0	1	7614	845	30	2		2	IFT52	20	42271216	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	6610036	42271216	20754304	216	64754											
SLC13A3	64849	broad.mit.edu	37	chr20	45188731	45188731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgaccgagtacatatcaGcccagtccgggaaggtgccc	10	7	11	13	2	1	1	1	1	0	0	2	3	2	2	4	2	3	1	4	2	3	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr20:45188731G>A	ENST00000279027.4	-	13	1757	c.1739C>T	c.(1738-1740)gCt>gTt	p.A580V	SLC13A3_ENST00000435032.1_Missense_Mutation_p.A165V|SLC13A3_ENST00000290317.5_Missense_Mutation_p.A533V|SLC13A3_ENST00000413164.2_Missense_Mutation_p.A530V|SLC13A3_ENST00000495082.1_Missense_Mutation_p.A533V|SLC13A3_ENST00000472148.1_Missense_Mutation_p.A498V|SLC13A3_ENST00000396360.1_Missense_Mutation_p.A498V	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	580						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GTACATATCAGCCCAGTCCGG	0.562													24	112					0	0	0	0	A	45188731	G	A	45188731	3	1	342	1	0	0	0	0	1	0	0	0	14481	971	34	4	73	4	SLC13A3	20	45188731	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	2917515	45188731	17836789	217	64755											
DIDO1	11083	broad.mit.edu	37	chr20	61511058	61511058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgctctctctgcctcccttCgaaagtctggtttctgtatt	4	16	7	14	2	4	0	0	0	4	0	7	1	5	0	3	1	1	3	3	1	2	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr20:61511058C>T	ENST00000266070.4	-	16	6575	c.6250G>A	c.(6250-6252)Gaa>Aaa	p.E2084K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E2084K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2084					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCCTCCCTTCGAAAGTCTGG	0.672													85	185					0	0	0	0	T	61511058	C	T	61511058	3	4	342	1	0	0	0	0	1	0	0	0	4559	893	31	1	476	1	DIDO1	20	61511058	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	16322327	61511058	1514462	218	64756											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978005	45978005	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggagcacgtggggcggcaGaggagggacacgcaggaggc	9	1	22	9	4	0	1	0	0	0	1	0	5	0	5	0	8	1	3	0	8	0	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr21:45978005G>C	ENST00000391620.1	-	1	638	c.594C>G	c.(592-594)ctC>ctG	p.L198L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	198	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						TGGGGCGGCAGAGGAGGGACA	0.692													9	39					0	0	0	0	C	45978005	G	C	45978005	2	2	342	1	0	0	0	0	0	0	0	1	8562	929	33	2		2	KRTAP10-3	21	45978005	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08		45978005	2151890	219	64757											
TBX1	6899	broad.mit.edu	37	chr22	19754274	19754274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccgcaccaccaccaccacCccgtgagtccagccgccgcg	8	3	8	22	5	0	1	0	1	0	0	2	1	2	1	10	0	1	1	10	0	0	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr22:19754274C>T	ENST00000332710.4	+	9	1501	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S	TBX1_ENST00000359500.3_Intron|TBX1_ENST00000329705.7_Intron	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	71					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCACCACCACCCCGTGAGTCC	0.776													6	11					0	0	0	0	T	19754274	C	T	19754274	3	4	342	1	0	0	0	0	1	0	0	0	15744	623	22	4	1402	4	TBX1	22	19754274	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08		19754274	31550292	220	64758											
HIC2	23119	broad.mit.edu	37	chr22	21800952	21800952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcgggcgagaaaccttacGagtgccagctgtgcgggggc	8	6	16	11	4	0	1	0	0	0	1	1	3	0	1	2	3	5	1	2	3	2	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr22:21800952G>A	ENST00000443632.2	+	2	2140	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	HIC2_ENST00000407464.2_Missense_Mutation_p.E590K|HIC2_ENST00000407598.2_Missense_Mutation_p.E590K			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	590					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAAACCTTACGAGTGCCAGCT	0.647													21	31					0	0	0	0	A	21800952	G	A	21800952	3	1	342	1	0	0	0	0	1	0	0	0	7152	1059	37	1	1774	1	HIC2	22	21800952	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	2046678	21800952	29503614	221	64759											
TBC1D10A	83874	broad.mit.edu	37	chr22	30722669	30722669	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cggcgctactcacgcgccctCggcgccctgcgagcccacga	5	4	12	20	8	1	0	1	0	0	0	2	2	1	0	3	2	3	1	3	2	1	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr22:30722669C>G	ENST00000215790.7	-	1	366	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	TBC1D10A_ENST00000403477.3_Missense_Mutation_p.E68Q|TBC1D10A_ENST00000490449.1_5'UTR	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	68						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	p.E68K(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CACGCGCCCTCGGCGCCCTGC	0.716													13	21					0	0	0	0	G	30722669	C	G	30722669	3	3	342	1	0	0	0	0	1	0	0	0	15689	893	31	3	1360	3	TBC1D10A	22	30722669	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	8921717	30722669	20581897	222	64760											
MYH9	4627	broad.mit.edu	37	chr22	36712573	36712573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggctcacatcaaagatctCgaagccggcaatgtccagga	14	6	10	11	2	3	1	2	0	1	1	5	3	4	2	2	3	1	2	2	3	4	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr22:36712573C>T	ENST00000216181.5	-	12	1599	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	457	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.E457K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCAAAGATCTCGAAGCCGGCA	0.572			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				37	106					0	0	0	0	T	36712573	C	T	36712573	3	4	342	1	0	0	0	0	1	0	0	0	10112	893	31	1	4633	1	MYH9	22	36712573	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	5989904	36712573	14591993	223	64761											
PLA2G6	8398	broad.mit.edu	37	chr22	38565425	38565425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtattgaccaggcggccaaaGaactgcatcttctgcggggc	9	8	13	11	2	2	2	0	1	2	1	2	2	2	2	2	4	3	2	2	4	3	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr22:38565425G>A	ENST00000332509.3	-	2	192	c.9C>T	c.(7-9)ttC>ttT	p.F3F	PLA2G6_ENST00000402064.1_Silent_p.F3F|PLA2G6_ENST00000335539.3_Silent_p.F3F	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	3					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGCGGCCAAAGAACTGCATCT	0.597													7	21					0	0	0	0	A	38565425	G	A	38565425	2	1	342	1	0	0	0	0	0	0	0	1	12080	933	33	2		2	PLA2G6	22	38565425	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	1852852	38565425	12739141	224	64762											
PACSIN2	11252	broad.mit.edu	37	chr22	43272156	43272156	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctaccagccttgaagctCagctcatcatgctcctgccc	8	9	6	18	0	3	1	3	1	0	0	4	1	4	1	5	0	6	3	5	0	2	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr22:43272156C>T	ENST00000263246.3	-	10	1536	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	PACSIN2_ENST00000407585.1_Silent_p.L404L|PACSIN2_ENST00000402229.1_Silent_p.L445L|PACSIN2_ENST00000337959.4_Silent_p.L404L|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000403744.3_Silent_p.L445L	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	445	SH3.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CCTTGAAGCTCAGCTCATCAT	0.582													11	41					0	0	0	0	T	43272156	C	T	43272156	2	4	342	1	0	0	0	0	0	0	0	1	11446	813	29	2		2	PACSIN2	22	43272156	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	4706731	43272156	8032410	225	64763											
SCO2	9997	broad.mit.edu	37	chr22	50962301	50962301	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgggtggaagtcctggacGtagcgggccatggcttcaac	7	9	15	10	2	1	0	1	0	0	0	2	2	2	2	2	5	2	2	2	5	3	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chr22:50962301G>A	ENST00000543927.1	-	2	746	c.540C>T	c.(538-540)taC>taT	p.Y180Y	SCO2_ENST00000535425.1_Silent_p.Y180Y|SCO2_ENST00000252785.3_Silent_p.Y180Y|SCO2_ENST00000395693.3_Silent_p.Y180Y	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	180	Thioredoxin.				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGTCCTGGACGTAGCGGGCCA	0.607													18	58					0	0	0	0	A	50962301	G	A	50962301	2	1	342	1	0	0	0	0	0	0	0	1	14019	1140	40	1		1	SCO2	22	50962301	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	7690145	50962301	342265	226	64764											
RAI2	10742	broad.mit.edu	37	chrX	17819888	17819888	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggctctccccgaggcaCaggggctgcaacacagtggc	8	5	14	14	1	1	0	0	0	1	0	2	1	1	0	2	5	2	4	2	5	1	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:17819888C>G	ENST00000545871.1	-	3	703	c.243G>C	c.(241-243)ctG>ctC	p.L81L	RAI2_ENST00000451717.1_Silent_p.L81L|RAI2_ENST00000415486.3_Intron|RAI2_ENST00000360011.1_Silent_p.L81L|RAI2_ENST00000331511.1_Silent_p.L81L|RP3-389A20.4_ENST00000509491.2_Silent_p.L47L	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	81					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CCCCGAGGCACAGGGGCTGCA	0.622													54	116					0	0	0	0	G	17819888	C	G	17819888	2	3	342	1	0	0	0	0	0	0	0	1	13091	465	17	4		4	RAI2	23	17819888	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08		17819888	137450672	227	64765											
PHKA2	5256	broad.mit.edu	37	chrX	18924674	18924674	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgaatgatcagtccaatccgGagtctcagcatctccacaaa	13	9	7	12	1	3	2	2	2	2	0	7	3	5	3	3	1	1	1	3	1	3	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:18924674G>C	ENST00000379942.4	-	25	3410	c.2745C>G	c.(2743-2745)ctC>ctG	p.L915L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	915					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GTCCAATCCGGAGTCTCAGCA	0.597													35	142					0	0	0	0	C	18924674	G	C	18924674	2	2	342	1	0	0	0	0	0	0	0	1	11916	1161	41	2		2	PHKA2	23	18924674	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	1104786	18924674	136345886	228	64766											
GPR64	10149	broad.mit.edu	37	chrX	19009030	19009030	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccgctttgaagtccttctGagagccatacggcctttccc	6	11	8	16	2	1	2	0	2	1	1	3	3	3	2	6	1	2	1	6	1	2	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:19009030G>C	ENST00000379878.3	-	28	3199	c.2958C>G	c.(2956-2958)ctC>ctG	p.L986L	GPR64_ENST00000340581.3_Silent_p.L883L|GPR64_ENST00000360279.4_Silent_p.L980L|GPR64_ENST00000379869.3_Silent_p.L1002L|GPR64_ENST00000356606.4_Silent_p.L988L|GPR64_ENST00000379873.2_Silent_p.L951L|GPR64_ENST00000379876.1_Silent_p.L978L|GPR64_ENST00000357991.3_Silent_p.L999L|GPR64_ENST00000357544.3_Silent_p.L972L|GPR64_ENST00000354791.3_Silent_p.L986L	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	1002					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AAGTCCTTCTGAGAGCCATAC	0.423													38	157					0	0	0	0	C	19009030	G	C	19009030	2	2	342	1	0	0	0	0	0	0	0	1	6754	1277	45	2		2	GPR64	23	19009030	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	84356	19009030	136261530	229	64767											
ZFX	7543	broad.mit.edu	37	chrX	24229432	24229432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactgcaagaaaggcttccGaagaccttcagaaaagaacc	16	6	9	10	1	1	4	1	0	0	4	2	5	2	4	3	1	3	3	3	1	7	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:24229432G>A	ENST00000379177.1	+	11	2784	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	ZFX_ENST00000379188.3_Missense_Mutation_p.R786Q|ZFX_ENST00000540034.1_Missense_Mutation_p.R825Q|ZFX_ENST00000539115.1_Missense_Mutation_p.R557Q|ZFX_ENST00000338565.3_Missense_Mutation_p.R736Q|ZFX_ENST00000304543.5_Missense_Mutation_p.R786Q	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.R786Q(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AAAGGCTTCCGAAGACCTTCA	0.443													44	85					0	0	0	0	A	24229432	G	A	24229432	3	1	342	1	0	0	0	0	1	0	0	0	17756	1058	37	1	2442	1	ZFX	23	24229432	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	5220402	24229432	131041128	230	64768											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29973723	29973723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgtcagaaacactactaccGaagctatgagtacgacgtac	14	7	9	11	4	1	2	1	1	0	1	1	4	1	2	1	0	6	3	1	0	7	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:29973723G>A	ENST00000378993.1	+	11	2550	c.1877G>A	c.(1876-1878)cGa>cAa	p.R626Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R626Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	626	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CACTACTACCGAAGCTATGAG	0.527													11	22					0	0	0	0	A	29973723	G	A	29973723	3	1	342	1	0	0	0	0	1	0	0	0	7714	1058	37	1	1915	1	IL1RAPL1	23	29973723	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	5744291	29973723	125296837	231	64769											
FAM47A	158724	broad.mit.edu	37	chrX	34149139	34149139	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaggagattggacacctgActagtgtcgggaggttccag	10	9	15	7	1	0	2	0	1	0	1	2	5	1	4	2	4	0	2	2	4	2	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:34149139A>C	ENST00000346193.3	-	1	1308	c.1257T>G	c.(1255-1257)agT>agG	p.S419R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	419										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGACACCTGACTAGTGTCGG	0.547													19	39					0	0	0	0	C	34149139	A	C	34149139	3	2	342	1	0	0	0	0	1	0	0	0	5616	272	10	5	1122	5	FAM47A	23	34149139	Missense_Mutation	SNP	A	TCGA-CV-A463-01A-11D-A25Y-08	4175416	34149139	121121421	232	64770											
FAM47B	170062	broad.mit.edu	37	chrX	34961045	34961045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccaagtacttcgcgaagCgcaagcacaggcgcctgagg	10	6	12	13	4	0	1	0	1	0	0	2	2	1	1	2	2	3	3	2	2	4	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:34961045C>T	ENST00000329357.5	+	1	133	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	33										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTTCGCGAAGCGCAAGCACAG	0.617													12	34					0	0	0	0	T	34961045	C	T	34961045	3	4	342	1	0	0	0	0	1	0	0	0	5617	768	27	1	99	1	FAM47B	23	34961045	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	811906	34961045	120309515	233	64771											
USP9X	8239	broad.mit.edu	37	chrX	41002598	41002598	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgcgagatagtcttcatCagccacagtatgtagaaaag	13	11	10	7	1	3	2	2	0	1	2	3	3	3	2	1	0	2	3	1	0	5	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:41002598C>T	ENST00000324545.7	+	10	1849	c.1216C>T	c.(1216-1218)Cag>Tag	p.Q406*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q406*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	406					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAGTCTTCATCAGCCACAGTA	0.353													20	45					0	0	0	0	T	41002598	C	T	41002598	4	4	342	1	0	0	0	0	0	1	0	0	17186	827	29	2	1250	2	USP9X	23	41002598	Nonsense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	6041553	41002598	114267962	234	64772											
RBM10	8241	broad.mit.edu	37	chrX	47034420	47034420	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgaatgctgtctccaggtCagagccggggcttcgccttc	5	11	12	13	2	3	2	1	1	2	1	6	2	3	2	3	3	2	2	3	3	1	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:47034420C>T	ENST00000377604.3	+	6	1247	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q92*|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q92*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	169	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GTCTCCAGGTCAGAGCCGGGG	0.617													9	56					0	0	0	0	T	47034420	C	T	47034420	4	4	342	1	0	0	0	0	0	1	0	0	13193	827	29	2	523	2	RBM10	23	47034420	Nonsense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	6031822	47034420	108236140	235	64773											
IQSEC2	23096	broad.mit.edu	37	chrX	53308797	53308797	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatggagtcaaggaccTgagtaggacagcaatactgg	12	8	13	8	0	2	1	2	1	0	0	2	4	2	4	1	4	2	3	1	4	4	3			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:53308797T>A	ENST00000375365.2	-	2	163	c.71A>T	c.(70-72)cAg>cTg	p.Q24L	IQSEC2_ENST00000462054.1_5'UTR|IQSEC2_ENST00000396435.3_Intron|IQSEC2_ENST00000375368.5_Intron	NM_015075.1	NP_055890.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	0					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GTCAAGGACCTGAGTAGGACA	0.547													14	29					0	0	0	0	A	53308797	T	A	53308797	3	1	342	1	0	0	0	0	1	0	0	0	7871	1580	55	5	3836	5	IQSEC2	23	53308797	Missense_Mutation	SNP	T	TCGA-CV-A463-01A-11D-A25Y-08	6274377	53308797	101961763	236	64774											
HUWE1	10075	broad.mit.edu	37	chrX	53562382	53562384	+	In_Frame_Del	DEL	CTT	CTT	-																															cataccaggtgtacatactcCttcttattctcctctgttac																										TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:53562382_53562384delCTT	ENST00000342160.3	-	80	13067_13069	c.12610_12612delAAG	c.(12610-12612)del	p.K4204del	HUWE1_ENST00000262854.6_In_Frame_Del_p.K4204del			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4204	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.K4094del(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTACATACTCCTTCTTATTCTCC	0.438													25	57	---	---	---	---					-	53562384	CTT	-	53562382	7	5	342	1	0	1	0	1	0	0	0	0	7514	680	24	0	528	0	HUWE1	23	53562382	In_Frame_Del	DEL	CTT	TCGA-CV-A463-01A-11D-A25Y-08	253585	53562382	101708178	237	64775											
ZXDB	158586	broad.mit.edu	37	chrX	57620700	57620700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacagatgctctgactccttCgagcaccctttgtgaaaaca	11	10	7	13	1	1	3	0	2	1	1	3	4	2	3	2	0	3	2	2	0	2	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:57620700C>T	ENST00000374888.1	+	1	2432	c.2219C>T	c.(2218-2220)tCg>tTg	p.S740L		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	740					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.S740L(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CTGACTCCTTCGAGCACCCTT	0.502													24	65					0	0	0	0	T	57620700	C	T	57620700	3	4	342	1	0	0	0	0	1	0	0	0	18342	893	31	1	2221	1	ZXDB	23	57620700	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	4058318	57620700	97649860	238	64776											
HDX	139324	broad.mit.edu	37	chrX	83588802	83588802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtttacttgttctacttCagaattacttatcatgtcac	11	17	5	8	0	4	2	3	0	1	2	4	2	4	2	0	0	3	2	0	0	5	8			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:83588802C>T	ENST00000297977.5	-	8	1900	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	HDX_ENST00000373177.2_Missense_Mutation_p.E597K|HDX_ENST00000506585.2_Missense_Mutation_p.E539K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	597						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGTTCTACTTCAGAATTACTT	0.259													8	14					0	0	0	0	T	83588802	C	T	83588802	3	4	342	1	0	0	0	0	1	0	0	0	7076	835	29	2	295	2	HDX	23	83588802	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	25968102	83588802	71681758	239	64777											
TMEM35	59353	broad.mit.edu	37	chrX	100334029	100334029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtaactattgtggccctctCagtggccctgggactcttct	5	13	10	13	1	3	0	1	0	3	0	4	1	3	1	2	3	1	1	2	3	2	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:100334029C>T	ENST00000372930.4	+	1	321	c.38C>T	c.(37-39)tCa>tTa	p.S13L		NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	13						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GTGGCCCTCTCAGTGGCCCTG	0.557													31	65					0	0	0	0	T	100334029	C	T	100334029	3	4	342	1	0	0	0	0	1	0	0	0	16251	838	29	2	40	2	TMEM35	23	100334029	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	16745227	100334029	54936531	240	64778											
COL4A6	1288	broad.mit.edu	37	chrX	107403061	107403061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtttgggtttacatccaaCcacttgcaccagactgaggc	9	11	10	11	0	0	2	0	1	0	1	1	2	1	2	3	3	3	3	3	3	2	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:107403061C>A	ENST00000418180.1	-	1	138	c.48G>T	c.(46-48)tgG>tgT	p.W16C	COL4A6_ENST00000334504.7_Intron|COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000394872.2_Intron|COL4A6_ENST00000372216.4_Intron|COL4A6_ENST00000538570.1_Intron			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	0					cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTACATCCAACCACTTGCACC	0.512									Alport syndrome with Diffuse Leiomyomatosis				17	46					2.23348e-06	2.30451e-06	1	0	A	107403061	C	A	107403061	3	1	342	1	0	0	0	0	1	0	0	0	3725	522	18	4		4	COL4A6	23	107403061	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	7069032	107403061	47867499	241	64779											
COL4A6	1288	broad.mit.edu	37	chrX	107403862	107403862	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcattccaggcatcccgaaGgggccttgctgccctggagc	6	7	14	14	1	0	0	0	0	0	0	2	2	2	1	4	5	3	3	4	5	1	2			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:107403862G>A	ENST00000334504.7	-	43	4589	c.4356C>T	c.(4354-4356)ccC>ccT	p.P1452P	COL4A6_ENST00000545689.1_Silent_p.P1428P|COL4A6_ENST00000394872.2_Silent_p.P1453P|COL4A6_ENST00000372216.4_Silent_p.P1453P|COL4A6_ENST00000538570.1_Silent_p.P1395P	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1453	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCATCCCGAAGGGGCCTTGCT	0.552									Alport syndrome with Diffuse Leiomyomatosis				32	109					0	0	0	0	A	107403862	G	A	107403862	2	1	342	1	0	0	0	0	0	0	0	1	3725	987	35	4		4	COL4A6	23	107403862	Silent	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	801	107403862	47866698	242	64780											
CDR1	1038	broad.mit.edu	37	chrX	139865995	139865995	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccagaaaatccatgtcttCcagtaacctcccagtcttcc	10	12	4	15	0	2	1	0	0	2	1	7	1	7	1	6	0	1	1	6	0	3	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:139865995C>T	ENST00000370532.2	-	1	728	c.537G>A	c.(535-537)tgG>tgA	p.W179*		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	179	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCATGTCTTCCAGTAACCTC	0.433													74	235					0	0	0	0	T	139865995	C	T	139865995	4	4	342	1	0	0	0	0	0	1	0	0	3200	856	30	2	255	2	CDR1	23	139865995	Nonsense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	32462133	139865995	15404565	243	64781											
FMR1NB	158521	broad.mit.edu	37	chrX	147063165	147063165	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatttggatcctgctgttCgtgtgctactacctgtccta	5	16	8	12	1	0	0	0	0	0	0	4	1	3	1	4	1	4	3	4	1	3	5			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:147063165C>T	ENST00000370467.3	+	1	317	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	81						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGCTGTTCGTGTGCTACT	0.612													38	89					0	0	0	0	T	147063165	C	T	147063165	2	4	342	1	0	0	0	0	0	0	0	1	6006	883	31	1		1	FMR1NB	23	147063165	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	7197170	147063165	8207395	244	64782											
MTM1	4534	broad.mit.edu	37	chrX	149809804	149809804	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctatgagctctgtgacacTtaccctgctcttttggtggt	5	16	10	10	0	2	2	0	2	2	0	2	2	2	2	1	2	4	3	1	2	2	4			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:149809804T>C	ENST00000370396.2	+	8	645	c.591T>C	c.(589-591)acT>acC	p.T197T	MTM1_ENST00000542741.1_Silent_p.T102T|MTM1_ENST00000413012.2_Silent_p.T160T|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.T82T	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	197	Myotubularin phosphatase.		T -> I (in XCNM).		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTGACACTTACCCTGCTC	0.433													28	102					0	0	0	0	C	149809804	T	C	149809804	2	2	342	1	0	0	0	0	0	0	0	1	10007	1596	56	5		5	MTM1	23	149809804	Silent	SNP	T	TCGA-CV-A463-01A-11D-A25Y-08	2746639	149809804	5460756	245	64783											
PRRG3	79057	broad.mit.edu	37	chrX	150868557	150868557	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agctgcgccagggcaccatcGagcgagagtgcatggaggag	10	4	17	10	3	0	1	0	0	0	1	1	5	0	3	2	3	4	3	2	3	0	0			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:150868557G>C	ENST00000370353.3	+	3	487	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	PRRG3_ENST00000370354.1_Missense_Mutation_p.E41Q|PRRG3_ENST00000538575.1_Missense_Mutation_p.E33Q			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	33	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCACCATCGAGCGAGAGTG	0.562													18	69					0	0	0	0	C	150868557	G	C	150868557	3	2	342	1	0	0	0	0	1	0	0	0	12686	1059	37	3	103	3	PRRG3	23	150868557	Missense_Mutation	SNP	G	TCGA-CV-A463-01A-11D-A25Y-08	1058753	150868557	4402003	246	64784											
TREX2	11219	broad.mit.edu	37	chrX	152710318	152710318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggtgtgcacgtcgccctCggctgagtgggctgcgcttg	3	9	17	12	4	0	1	0	1	0	0	2	1	0	1	1	3	2	4	1	3	0	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:152710318C>T	ENST00000330912.2	-	13	2121	c.571G>A	c.(571-573)Gag>Aag	p.E191K	TREX2_ENST00000334497.2_Missense_Mutation_p.E234K|TREX2_ENST00000393862.2_Missense_Mutation_p.E191K|TREX2_ENST00000338525.2_Missense_Mutation_p.E191K|TREX2_ENST00000414588.1_Missense_Mutation_p.E233K|TREX2_ENST00000370232.1_Missense_Mutation_p.E234K|TREX2_ENST00000370231.2_Missense_Mutation_p.E191K|TREX2_ENST00000402951.1_Missense_Mutation_p.E234K			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	234					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGTCGCCCTCGGCTGAGTGG	0.721								Editing and processing nucleases					3	9					0	0	0	0	T	152710318	C	T	152710318	3	4	342	1	0	0	0	0	1	0	0	0	16572	893	31	1	142	1	TREX2	23	152710318	Missense_Mutation	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	1841761	152710318	2560242	247	64785											
BGN	633	broad.mit.edu	37	chrX	152771515	152771515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagggagtgttcagcgggctCcggaacatgaactgcatcgg	10	7	15	9	3	1	1	1	1	0	0	3	3	2	3	1	4	4	3	1	4	3	1			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2B408A5D-6FDB-4B3C-88E8-C7C1D98A90A5	1D44F50D-773D-45F4-83DF-FB6567A2BCDB	g.chrX:152771515C>T	ENST00000331595.4	+	4	732	c.546C>T	c.(544-546)ctC>ctT	p.L182L	BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Silent_p.L121L	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	182						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCGGGCTCCGGAACATGA	0.612													22	39					0	0	0	0	T	152771515	C	T	152771515	2	4	342	1	0	0	0	0	0	0	0	1	1423	842	30	2		2	BGN	23	152771515	Silent	SNP	C	TCGA-CV-A463-01A-11D-A25Y-08	61197	152771515	2499045	248	64786											
TCHH	7062	broad.mit.edu	37	chr1	152081457	152081457	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgcggaattttctgtcGcggtcctgacgcagctgttg	4	13	12	12	5	1	1	0	1	1	0	5	2	3	2	2	2	1	3	2	2	1	3			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr1:152081457G>A	ENST00000368804.1	-	2	4235	c.4236C>T	c.(4234-4236)cgC>cgT	p.R1412R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1412	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTTTCTGTCGCGGTCCTGAC	0.602													32	146					0	0	0	0	A	152081457	G	A	152081457	2	1	343	1	0	0	0	0	0	0	0	1	15794	1074	38	1		1	TCHH	1	152081457	Silent	SNP	G	TCGA-CV-A464-01A-11D-A25Y-08		152081457	97169164	1	64787											
GNPAT	8443	broad.mit.edu	37	chr1	231386814	231386814	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctcttgtctataagggAattactccatgtaaaccaat	14	12	5	10	0	2	0	0	0	2	0	3	1	3	1	3	1	2	1	3	1	7	5			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr1:231386814A>T	ENST00000366647.4	+	2	355	c.186A>T	c.(184-186)ggA>ggT	p.G62G	GNPAT_ENST00000366646.3_Intron	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	62					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCTATAAGGGAATTACTCCAT	0.353													14	86					0	0	0	0	T	231386814	A	T	231386814	2	4	343	1	0	0	0	0	0	0	0	1	6592	233	9	5		5	GNPAT	1	231386814	Silent	SNP	A	TCGA-CV-A464-01A-11D-A25Y-08	79305357	231386814	17863807	2	64788											
DHX57	90957	broad.mit.edu	37	chr2	39055535	39055535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgtagctgttcataaagCattttgatttctgctagtcc	9	16	8	8	0	2	1	1	1	1	0	3	2	3	1	1	0	3	5	1	0	4	7			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr2:39055535C>A	ENST00000295373.6	-	14	2712	c.2586G>T	c.(2584-2586)atG>atT	p.M862I		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	862	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTTCATAAAGCATTTTGATTT	0.343													7	49					8.12818e-05	8.44694e-05	1	0	A	39055535	C	A	39055535	3	1	343	1	0	0	0	0	1	0	0	0	4550	710	25	4	1618	4	DHX57	2	39055535	Missense_Mutation	SNP	C	TCGA-CV-A464-01A-11D-A25Y-08		39055535	204143838	3	64789											
SLC4A5	57835	broad.mit.edu	37	chr2	74477537	74477537	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttggtgatacagccgaggTagatgaataggatggcagag	12	8	16	5	2	0	4	0	2	0	2	0	6	0	5	1	4	2	3	1	4	4	4			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr2:74477537T>C	ENST00000394019.2	-	17	1983	c.1586A>G	c.(1585-1587)tAc>tGc	p.Y529C	SLC4A5_ENST00000377632.1_Missense_Mutation_p.Y529C|SLC4A5_ENST00000377634.4_Missense_Mutation_p.Y529C|SLC4A5_ENST00000359484.4_Missense_Mutation_p.Y465C|SLC4A5_ENST00000358683.4_Missense_Mutation_p.Y465C|SLC4A5_ENST00000357822.5_Missense_Mutation_p.Y529C|SLC4A5_ENST00000346834.4_Missense_Mutation_p.Y529C|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.Y529C	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	529						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACAGCCGAGGTAGATGAATAG	0.527											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	123					0	0	0	0	C	74477537	T	C	74477537	3	2	343	1	0	0	0	0	1	0	0	0	14745	1638	57	5	1887	5	SLC4A5	2	74477537	Missense_Mutation	SNP	T	TCGA-CV-A464-01A-11D-A25Y-08	35422002	74477537	168721836	4	64790											
IHH	3549	broad.mit.edu	37	chr2	219920534	219920534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcgccccactctccaggcGtacctgggctccggcaggga	6	5	13	17	4	1	0	0	0	1	0	3	1	2	1	5	4	1	3	5	4	1	1	rs3731880		TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr2:219920534G>A	ENST00000295731.5	-	3	630	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	211					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCTCCAGGCGTACCTGGGCT	0.667													7	33					0	0	0	0	A	219920534	G	A	219920534	3	1	343	1	0	0	0	0	1	0	0	0	7660	1145	40	1	608	1	IHH	2	219920534	Missense_Mutation	SNP	G	TCGA-CV-A464-01A-11D-A25Y-08	145442997	219920534	23278839	5	64791											
NGEF	25791	broad.mit.edu	37	chr2	233839443	233839443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taattgggatgtggcaatgaGgctctttgtcttggatatcc	8	15	12	6	0	2	1	0	1	2	0	3	3	3	3	1	4	0	2	1	4	3	5			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr2:233839443G>T	ENST00000264051.3	-	2	436	c.158C>A	c.(157-159)cCt>cAt	p.P53H		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	53	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GTGGCAATGAGGCTCTTTGTC	0.473													26	162					7.92952e-12	8.9418e-12	1	0	T	233839443	G	T	233839443	3	4	343	1	0	0	0	0	1	0	0	0	10464	1000	35	4	2141	4	NGEF	2	233839443	Missense_Mutation	SNP	G	TCGA-CV-A464-01A-11D-A25Y-08	13918909	233839443	9359930	6	64792											
H1FX	8971	broad.mit.edu	37	chr3	129034140	129034140	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactttggggacgctgggCttggccgccttcttcacctt	3	12	13	13	2	2	0	1	0	1	0	2	1	2	1	3	5	0	3	3	5	0	5			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr3:129034140C>T	ENST00000333762.4	-	1	980	c.606G>A	c.(604-606)aaG>aaA	p.K202K		NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	202					nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)|ovary(1)|urinary_tract(2)	4						GGACGCTGGGCTTGGCCGCCT	0.642													4	28					0	0	0	0	T	129034140	C	T	129034140	2	4	343	1	0	0	0	0	0	0	0	1	6973	796	28	4		4	H1FX	3	129034140	Silent	SNP	C	TCGA-CV-A464-01A-11D-A25Y-08		129034140	68988290	7	64793											
HIST1H2BL	8340	broad.mit.edu	37	chr6	27775552	27775552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggtggacctgcttcagcaCcttgtacacgtacacggagt	8	9	13	11	2	1	0	1	0	0	0	1	2	1	2	2	4	4	4	2	4	2	4			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr6:27775552C>T	ENST00000377401.2	-	1	157	c.133G>A	c.(133-135)Gtg>Atg	p.V45M		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	45					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TGCTTCAGCACCTTGTACACG	0.577													26	189					0	0	0	0	T	27775552	C	T	27775552	3	4	343	1	0	0	0	0	1	0	0	0	7201	507	18	4	251	4	HIST1H2BL	6	27775552	Missense_Mutation	SNP	C	TCGA-CV-A464-01A-11D-A25Y-08		27775552	143339515	8	64794											
COL12A1	1303	broad.mit.edu	37	chr6	75866077	75866077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagtcgctttaacactgtcGaagtgactgtggggggcacc	9	9	14	9	2	0	1	0	1	0	0	2	3	0	1	1	3	1	2	1	3	3	2			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr6:75866077G>A	ENST00000322507.8	-	15	3455	c.3146C>T	c.(3145-3147)tCg>tTg	p.S1049L	COL12A1_ENST00000416123.2_Missense_Mutation_p.S1049L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.S1049L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1049	Fibronectin type-III 7.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAACACTGTCGAAGTGACTGT	0.493													11	111					0	0	0	0	A	75866077	G	A	75866077	3	1	343	1	0	0	0	0	1	0	0	0	3699	1059	37	1	6253	1	COL12A1	6	75866077	Missense_Mutation	SNP	G	TCGA-CV-A464-01A-11D-A25Y-08	48090525	75866077	95248990	9	64795											
PTPN12	5782	broad.mit.edu	37	chr7	77230124	77230124	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctatttgtattcattgcagGtacaaaagaatttcccaagt	13	14	6	8	0	1	1	1	0	0	1	2	1	2	1	2	1	2	3	2	1	7	7			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr7:77230124G>T	ENST00000248594.6	+	8	967		c.e8+1		PTPN12_ENST00000415482.2_Splice_Site|PTPN12_ENST00000435495.2_Splice_Site	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12							soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTCATTGCAGGTACAAAAGAA	0.289													12	60					1.61879e-10	1.78742e-10	1	0	T	77230124	G	T	77230124	5	4	343	1	0	0	0	0	0	0	1	0	12861	1275	44	4	726	4	PTPN12	7	77230124	Splice_Site	SNP	G	TCGA-CV-A464-01A-11D-A25Y-08		77230124	81908539	10	64796											
PIK3CG	5294	broad.mit.edu	37	chr7	106508808	106508808	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcccgaaagccaaagcgaaCaggattttgtgctgcgcgtc	10	9	11	11	4	0	0	0	0	0	0	2	3	1	1	2	1	5	1	2	1	3	3			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr7:106508808C>A	ENST00000359195.3	+	2	1112	c.802C>A	c.(802-804)Cag>Aag	p.Q268K	PIK3CG_ENST00000440650.2_Missense_Mutation_p.Q268K|PIK3CG_ENST00000496166.1_Missense_Mutation_p.Q268K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	268					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCAAAGCGAACAGGATTTTGT	0.562													8	65					1.06961e-07	1.15693e-07	1	0	A	106508808	C	A	106508808	3	1	343	1	0	0	0	0	1	0	0	0	11988	479	17	4	804	4	PIK3CG	7	106508808	Missense_Mutation	SNP	C	TCGA-CV-A464-01A-11D-A25Y-08	29278684	106508808	52629855	11	64797											
NRAP	4892	broad.mit.edu	37	chr10	115350393	115350393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcccagctgctccgggtCgcaggtgggctggggcaggg	4	5	21	11	2	0	0	0	0	0	0	2	1	1	0	2	7	2	5	2	7	0	0			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr10:115350393C>T	ENST00000369358.4	-	40	5168	c.4924G>A	c.(4924-4926)Gac>Aac	p.D1642N	NRAP_ENST00000360478.3_Missense_Mutation_p.D1599N|NRAP_ENST00000359988.3_Missense_Mutation_p.D1634N|NRAP_ENST00000369360.3_Missense_Mutation_p.D1607N			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1634						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCTCCGGGTCGCAGGTGGGC	0.667													11	61					0	0	0	0	T	115350393	C	T	115350393	3	4	343	1	0	0	0	0	1	0	0	0	10709	884	31	1	304	1	NRAP	10	115350393	Missense_Mutation	SNP	C	TCGA-CV-A464-01A-11D-A25Y-08		115350393	20184354	12	64798											
DOCK1	1793	broad.mit.edu	37	chr10	128795024	128795024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttctagaattctagatttGgacctggtggttagagatga	10	15	12	4	0	2	4	0	1	2	3	2	6	2	5	1	3	0	2	1	3	4	6			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr10:128795024G>A	ENST00000280333.6	+	7	595	c.486G>A	c.(484-486)ttG>ttA	p.L162L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	162					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTCTAGATTTGGACCTGGTGG	0.403													14	127					0	0	0	0	A	128795024	G	A	128795024	2	1	343	1	0	0	0	0	0	0	0	1	4720	1339	47	4		4	DOCK1	10	128795024	Silent	SNP	G	TCGA-CV-A464-01A-11D-A25Y-08	13444631	128795024	6739723	13	64799											
KCNA5	3741	broad.mit.edu	37	chr12	5153702	5153702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcaacatctccgggctgcGctttgagacgcagctgggca	8	8	12	13	3	2	1	1	1	1	1	3	2	2	1	1	2	3	5	1	2	1	1			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr12:5153702G>A	ENST00000252321.3	+	1	618	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	130						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			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						TCCGGGCTGCGCTTTGAGACG	0.677													6	35					0	0	0	0	A	5153702	G	A	5153702	3	1	343	1	0	0	0	0	1	0	0	0	8059	1087	38	1	391	1	KCNA5	12	5153702	Missense_Mutation	SNP	G	TCGA-CV-A464-01A-11D-A25Y-08		5153702	128698193	14	64800											
DNAH10	196385	broad.mit.edu	37	chr12	124401153	124401153	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ataaaagtctcccaaggacgGcagtttattatcctgggaga	13	10	10	8	1	1	1	0	0	1	1	3	3	2	2	2	3	0	2	2	3	5	4			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr12:124401153G>A	ENST00000409039.3	+	62	10543	c.10518G>A	c.(10516-10518)cgG>cgA	p.R3506R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3506	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCCAAGGACGGCAGTTTATTA	0.438													3	46					0	0	0	0	A	124401153	G	A	124401153	2	1	343	1	0	0	0	0	0	0	0	1	4635	1190	42	4		4	DNAH10	12	124401153	Silent	SNP	G	TCGA-CV-A464-01A-11D-A25Y-08	119247451	124401153	9450742	15	64801											
STON2	85439	broad.mit.edu	37	chr14	81743534	81743534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaagccagttgacatcctCagccagctctgcacctccac	10	7	8	16	0	2	2	1	1	1	1	4	3	4	2	5	0	4	3	5	0	1	1			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr14:81743534C>T	ENST00000555447.1	-	6	2533	c.2121G>A	c.(2119-2121)ctG>ctA	p.L707L	STON2_ENST00000267540.2_Silent_p.L707L	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	707	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TTGACATCCTCAGCCAGCTCT	0.547													18	100					0	0	0	0	T	81743534	C	T	81743534	2	4	343	1	0	0	0	0	0	0	0	1	15408	813	29	2		2	STON2	14	81743534	Silent	SNP	C	TCGA-CV-A464-01A-11D-A25Y-08		81743534	25606006	16	64802											
TP53BP1	7158	broad.mit.edu	37	chr15	43713342	43713345	+	Frame_Shift_Del	DEL	CGTC	CGTC	-																															ccatcctcctcacacactggCgtccctgtctgactgacccc																										TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr15:43713342_43713345delCGTC	ENST00000263801.3	-	20	4365_4368	c.4113_4116delGACG	c.(4111-4116)ggfs	p.GT1371fs	TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.GT1376fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.GT1376fs|TP53BP1_ENST00000382039.3_Intron	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1371					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CACACACTGGCGTCCCTGTCTGAC	0.564								Other conserved DNA damage response genes					11	78	---	---	---	---					-	43713345	CGTC	-	43713342	7	5	343	1	0	1	0	1	0	0	0	0	16478	755	27	0	1838	0	TP53BP1	15	43713342	Frame_Shift_Del	DEL	CGTC	TCGA-CV-A464-01A-11D-A25Y-08		43713342	58818050	17	64803											
HDC	3067	broad.mit.edu	37	chr15	50550636	50550636	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagttgatggcatcagccaGcatgtctcctagcagggagg	9	8	14	10	0	2	1	1	1	1	0	3	2	2	2	2	3	3	5	2	3	1	2			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr15:50550636G>A	ENST00000267845.3	-	3	685	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	HDC_ENST00000543581.1_Silent_p.L95L	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	95					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GCATCAGCCAGCATGTCTCCT	0.577													9	36					0	0	0	0	A	50550636	G	A	50550636	2	1	343	1	0	0	0	0	0	0	0	1	7065	962	34	4		4	HDC	15	50550636	Silent	SNP	G	TCGA-CV-A464-01A-11D-A25Y-08	6837294	50550636	51980756	18	64804											
ARNT2	9915	broad.mit.edu	37	chr15	80872758	80872758	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcttttctagctcttcAgtggttcatgtgcctggagt	4	18	9	10	0	5	0	2	0	3	0	6	1	6	1	2	2	2	2	2	2	1	6			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr15:80872758A>T	ENST00000533983.1	+	17	1926	c.1587A>T	c.(1585-1587)tcA>tcT	p.S529S	ARNT2_ENST00000527771.1_Silent_p.S529S|RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000303329.4_Silent_p.S540S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	540					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTAGCTCTTCAGTGGTTCATG	0.512													18	123					0	0	0	0	T	80872758	A	T	80872758	2	4	343	1	0	0	0	0	0	0	0	1	970	175	7	5		5	ARNT2	15	80872758	Silent	SNP	A	TCGA-CV-A464-01A-11D-A25Y-08	30322122	80872758	21658634	19	64805											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	44					0	0	0	0	T	7577538	C	T	7577538	3	4	343	1	0	0	0	0	1	0	0	0	16476	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-CV-A464-01A-11D-A25Y-08		7577538	73617672	20	64806											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	58					0	0	0	0	T	7578406	C	T	7578406	3	4	343	1	0	0	0	0	1	0	0	0	16476	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-CV-A464-01A-11D-A25Y-08	868	7578406	73616804	21	64807											
CACNA1G	8913	broad.mit.edu	37	chr17	48683311	48683311	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaggataccaggaacatcaCcaataaatcggactgtgccg	14	6	10	11	3	1	0	1	0	0	0	2	4	1	3	3	3	3	0	3	3	5	2			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr17:48683311C>A	ENST00000352832.5	+	22	4652	c.4280C>A	c.(4279-4281)aCc>aAc	p.T1427N	CACNA1G_ENST00000416767.4_Missense_Mutation_p.T1450N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.T1427N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.T1450N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.T1427N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.T1450N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.T1427N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.T1450N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.T1427N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.T1450N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.T1427N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.T1450N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.T1427N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.T1427N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.T1450N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1450					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGAACATCACCAATAAATCG	0.552													8	42					5.18039e-06	5.49121e-06	1	0	A	48683311	C	A	48683311	3	1	343	1	0	0	0	0	1	0	0	0	2569	507	18	4	4439	4	CACNA1G	17	48683311	Missense_Mutation	SNP	C	TCGA-CV-A464-01A-11D-A25Y-08	41104905	48683311	32511899	22	64808											
CASKIN2	57513	broad.mit.edu	37	chr17	73499946	73499946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacccacctcaggtgtcatgCggctgatggtaggcacatca	9	8	11	13	1	3	1	3	1	0	0	3	1	3	1	2	4	1	3	2	4	1	1			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr17:73499946C>T	ENST00000321617.3	-	15	2151	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R440H	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	522	SAM 1.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTGTCATGCGGCTGATGGT	0.652													3	20					0	0	0	0	T	73499946	C	T	73499946	3	4	343	1	0	0	0	0	1	0	0	0	2692	768	27	1	2067	1	CASKIN2	17	73499946	Missense_Mutation	SNP	C	TCGA-CV-A464-01A-11D-A25Y-08	24816635	73499946	7695264	23	64809											
PIGU	128869	broad.mit.edu	37	chr20	33176367	33176367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcatactcccaagaaaaGatccagaaggctttgctctt	13	10	8	10	0	1	3	0	0	1	3	3	3	3	3	2	2	2	3	2	2	5	3			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr20:33176367G>A	ENST00000374820.2	-	7	632	c.612C>T	c.(610-612)atC>atT	p.I204I	PIGU_ENST00000480175.1_5'UTR|PIGU_ENST00000452740.2_Silent_p.I224I			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	224					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						CCCAAGAAAAGATCCAGAAGG	0.458													4	62					0	0	0	0	A	33176367	G	A	33176367	2	1	343	1	0	0	0	0	0	0	0	1	11972	932	33	2		2	PIGU	20	33176367	Silent	SNP	G	TCGA-CV-A464-01A-11D-A25Y-08		33176367	29849153	24	64810											
CYYR1	116159	broad.mit.edu	37	chr21	27852735	27852735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattccaaaaacaatgcccgCaattgcagtgcccctaaaag	15	8	6	12	1	0	0	0	0	0	0	1	0	1	0	4	0	4	2	4	0	7	4			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr21:27852735C>T	ENST00000299340.4	-	3	533	c.190G>A	c.(190-192)Gcg>Acg	p.A64T	AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000400043.3_Missense_Mutation_p.A64T|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000414486.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	64						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						ACAATGCCCGCAATTGCAGTG	0.433													12	80					0	0	0	0	T	27852735	C	T	27852735	3	4	343	1	0	0	0	0	1	0	0	0	4243	710	25	4	282	4	CYYR1	21	27852735	Missense_Mutation	SNP	C	TCGA-CV-A464-01A-11D-A25Y-08		27852735	20277160	25	64811											
HSCB	150274	broad.mit.edu	37	chr22	29153091	29153091	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgaagaagccaaggaaatTttgacaaagatgagatactt	17	11	9	4	0	0	5	0	3	0	3	0	7	0	6	1	1	2	0	1	1	6	5			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr22:29153091T>C	ENST00000216027.3	+	6	707	c.642T>C	c.(640-642)atT>atC	p.I214I	HSCB_ENST00000495977.1_3'UTR|HSCB_ENST00000398941.2_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	214					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						CCAAGGAAATTTTGACAAAGA	0.328													20	110					0	0	0	0	C	29153091	T	C	29153091	2	2	343	1	0	0	0	0	0	0	0	1	7424	1829	64	5		5	HSCB	22	29153091	Silent	SNP	T	TCGA-CV-A464-01A-11D-A25Y-08		29153091	22151475	26	64812											
ZC3H7B	23264	broad.mit.edu	37	chr22	41738577	41738577	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgctcatcaagaacccCttggctgccacccacgagtt	8	9	8	16	1	2	1	2	0	0	1	2	2	2	1	5	1	3	3	5	1	2	3			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr22:41738577C>T	ENST00000352645.4	+	12	1499	c.1242C>T	c.(1240-1242)ccC>ccT	p.P414P	ZC3H7B_ENST00000351589.4_Silent_p.P414P	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	430					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCAAGAACCCCTTGGCTGCCA	0.592													8	51					0	0	0	0	T	41738577	C	T	41738577	2	4	343	1	0	0	0	0	0	0	0	1	17668	668	24	4		4	ZC3H7B	22	41738577	Silent	SNP	C	TCGA-CV-A464-01A-11D-A25Y-08	12585486	41738577	9565989	27	64813											
FAM118A	55007	broad.mit.edu	37	chr22	45723893	45723893	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacctgctggaggcctttggCcggcggcagaacaagcccat	9	6	13	13	2	0	1	0	0	0	1	0	2	0	2	4	5	4	2	4	5	3	1			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chr22:45723893C>T	ENST00000216214.3	+	5	1305	c.471C>T	c.(469-471)ggC>ggT	p.G157G	FAM118A_ENST00000405673.1_Silent_p.G157G|FAM118A_ENST00000441876.2_Silent_p.G157G	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	157						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AGGCCTTTGGCCGGCGGCAGA	0.627													3	32					0	0	0	0	T	45723893	C	T	45723893	2	4	343	1	0	0	0	0	0	0	0	1	5452	726	26	4		4	FAM118A	22	45723893	Silent	SNP	C	TCGA-CV-A464-01A-11D-A25Y-08	3985316	45723893	5580673	28	64814											
ZBTB33	10009	broad.mit.edu	37	chrX	119387865	119387865	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgatgtcattttttgcTccgagattctgcccacaaag	10	14	8	9	1	2	3	1	2	1	1	3	4	3	3	2	0	2	1	2	0	1	4			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chrX:119387865T>A	ENST00000326624.2	+	2	823	c.595T>A	c.(595-597)Tcc>Acc	p.S199T	ZBTB33_ENST00000557385.1_Missense_Mutation_p.S199T	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	199					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CATTTTTTGCTCCGAGATTCT	0.398													12	38					0	0	0	0	A	119387865	T	A	119387865	3	1	343	1	0	0	0	0	1	0	0	0	17631	1551	54	5	597	5	ZBTB33	23	119387865	Missense_Mutation	SNP	T	TCGA-CV-A464-01A-11D-A25Y-08		119387865	35882695	29	64815											
ZNF449	203523	broad.mit.edu	37	chrX	134481154	134481154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgcttcaggcagttccaGtacagagaagcagctgggcc	10	6	13	12	1	1	1	1	0	0	1	2	2	2	1	2	2	4	6	2	2	2	3	rs45487096	byFrequency	TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chrX:134481154G>A	ENST00000339249.4	+	2	251	c.111G>A	c.(109-111)caG>caA	p.Q37Q	ZNF449_ENST00000370761.3_Silent_p.Q37Q|ZNF449_ENST00000370760.3_Silent_p.Q37Q	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	37	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAGTTCCAGTACAGAGAAG	0.483													5	78					0	0	0	0	A	134481154	G	A	134481154	2	1	343	1	0	0	0	0	0	0	0	1	18015	1020	36	4		4	ZNF449	23	134481154	Silent	SNP	G	TCGA-CV-A464-01A-11D-A25Y-08	15093289	134481154	20789406	30	64816											
PLXNA3	55558	broad.mit.edu	37	chrX	153689951	153689951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggctctgccctggctgctGaacaaggagctgccctgcat	6	9	12	14	0	1	1	0	1	1	0	1	2	1	2	2	3	6	5	2	3	2	0			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chrX:153689951G>A	ENST00000369682.3	+	3	1282	c.1107G>A	c.(1105-1107)ctG>ctA	p.L369L		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	369	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGCTGCTGAACAAGGAGC	0.637													28	85					0	0	0	0	A	153689951	G	A	153689951	2	1	343	1	0	0	0	0	0	0	0	1	12193	1277	45	2		2	PLXNA3	23	153689951	Silent	SNP	G	TCGA-CV-A464-01A-11D-A25Y-08	19208797	153689951	1580609	31	64817											
TBL1Y	90665	broad.mit.edu	37	chrY	6911085	6911085	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccagtccaacatcaatggGacactagtgccaccgtctgc	11	7	9	14	1	2	0	1	0	1	0	3	1	3	1	4	1	4	0	4	1	3	1			TCGA-CV-A464-01A-11D-A25Y-08	TCGA-CV-A464-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23FC1135-E9CD-43EF-A121-8F2C81F3FCB8	82A24F3A-623E-4A8A-9B8C-E890BC28BF3A	g.chrY:6911085G>T	ENST00000383032.1	+	7	770	c.123G>T	c.(121-123)ggG>ggT	p.G41G	TBL1Y_ENST00000346432.3_Silent_p.G41G|TBL1Y_ENST00000355162.2_Silent_p.G41G	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	41	F-box-like.				transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						ACATCAATGGGACACTAGTGC	0.522													12	48					0.0135373	0.0137976	1	0	T	6911085	G	T	6911085	2	4	343	1	0	0	0	0	0	0	0	1	15735	1161	41	2		2	TBL1Y	24	6911085	Silent	SNP	G	TCGA-CV-A464-01A-11D-A25Y-08		6911085	52462481	32	64818											
NEGR1	257194	broad.mit.edu	37	chr1	72076802	72076802	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccgggggtcacggtgccaGatttaatttcctgaatagta	9	12	12	8	2	1	2	1	1	0	1	3	2	3	2	3	3	1	1	3	3	4	5			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr1:72076802G>C	ENST00000357731.4	-	5	934	c.695C>G	c.(694-696)tCt>tGt	p.S232C	NEGR1_ENST00000434200.1_Missense_Mutation_p.S186C|NEGR1_ENST00000306821.3_Missense_Mutation_p.S104C	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	232	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CACGGTGCCAGATTTAATTTC	0.428													30	78					0	0	0	0	C	72076802	G	C	72076802	3	2	344	1	0	0	0	0	1	0	0	0	10387	942	33	2	381	2	NEGR1	1	72076802	Missense_Mutation	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08		72076802	177173819	1	64819											
ABCA4	24	broad.mit.edu	37	chr1	94568627	94568627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccactgagtcagacaggcCgatgtttttaatgagaaata	14	10	10	7	1	1	3	1	2	0	2	1	6	1	3	2	1	0	1	2	1	3	4	rs61748532	byFrequency	TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr1:94568627C>T	ENST00000370225.3	-	5	600	c.514G>A	c.(514-516)Ggc>Agc	p.G172S	ABCA4_ENST00000535735.1_Missense_Mutation_p.G172S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	172					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G172C(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAGACAGGCCGATGTTTTTA	0.463													46	207					0	0	0	0	T	94568627	C	T	94568627	3	4	344	1	0	0	0	0	1	0	0	0	34	652	23	1	6491	1	ABCA4	1	94568627	Missense_Mutation	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08	22491825	94568627	154681994	2	64820											
HIST2H3D	653604	broad.mit.edu	37	chr1	149784864	149784864	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcggcgggccaactggaTgtccttgggcatgatggtca	7	9	16	9	2	1	1	1	1	0	0	2	3	2	2	2	5	2	1	2	5	1	1			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr1:149784864T>C	ENST00000331491.1	-	1	372	c.373A>G	c.(373-375)Atc>Gtc	p.I125V		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	125					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GCCAACTGGATGTCCTTGGGC	0.592													8	59					0	0	0	0	C	149784864	T	C	149784864	3	2	344	1	0	0	0	0	1	0	0	0	7231	1464	51	5	39	5	HIST2H3D	1	149784864	Missense_Mutation	SNP	T	TCGA-CV-A465-01A-11D-A25Y-08	55216237	149784864	99465757	3	64821											
ZEB2	9839	broad.mit.edu	37	chr2	145157727	145157727	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgatattgtttctcattcGgccatttacagagattaaac	11	16	6	8	1	1	2	1	1	1	1	3	3	1	2	1	1	2	1	1	1	4	8			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr2:145157727G>A	ENST00000558170.2	-	8	2211	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R343*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R343*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R319*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	343						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTTCTCATTCGGCCATTTACA	0.413													22	34					0	0	0	0	A	145157727	G	A	145157727	4	1	344	1	0	0	0	0	0	1	0	0	17719	1124	39	1	2629	1	ZEB2	2	145157727	Nonsense_Mutation	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08		145157727	98041646	4	64822											
DNAH5	1767	broad.mit.edu	37	chr5	13817689	13817689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaatgttttcctccaaagcGtagaaaatatcccatcagtc	13	13	5	10	1	1	1	1	0	0	1	5	1	4	1	3	0	1	2	3	0	6	5	rs144983881	byFrequency	TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr5:13817689G>A	ENST00000265104.4	-	42	7060	c.6956C>T	c.(6955-6957)aCg>aTg	p.T2319M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2319	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTCCAAAGCGTAGAAAATAT	0.403									Kartagener syndrome				15	113					0	0	0	0	A	13817689	G	A	13817689	3	1	344	1	0	0	0	0	1	0	0	0	4641	1145	40	1	7070	1	DNAH5	5	13817689	Missense_Mutation	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08		13817689	167097571	5	64823											
RAD17	5884	broad.mit.edu	37	chr5	68692363	68692363	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaacctcagtggtttctaaTaaataaaaaggtaaaaaaaa	22	9	5	5	0	2	0	1	0	1	0	2	0	2	0	1	2	1	2	1	2	11	5			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr5:68692363T>A	ENST00000509734.1	+	15	2273	c.1595T>A	c.(1594-1596)aTa>aAa	p.I532K	RAD17_ENST00000354312.3_Missense_Mutation_p.I521K|RAD17_ENST00000305138.4_Missense_Mutation_p.I521K|RAD17_ENST00000380774.3_Missense_Mutation_p.I532K|RAD17_ENST00000358030.2_Missense_Mutation_p.I356K|RAD17_ENST00000354868.5_Missense_Mutation_p.I521K|RAD17_ENST00000521422.1_Missense_Mutation_p.I356K|RAD17_ENST00000361732.2_Missense_Mutation_p.I521K|RAD17_ENST00000282891.6_Missense_Mutation_p.I435K|RAD17_ENST00000345306.6_Missense_Mutation_p.I521K|RAD17_ENST00000504177.1_Intron			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	532	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGGTTTCTAATAAATAAAAAG	0.343								Other conserved DNA damage response genes					5	14					0	0	0	0	A	68692363	T	A	68692363	3	1	344	1	0	0	0	0	1	0	0	0	13061	1406	49	5	1658	5	RAD17	5	68692363	Missense_Mutation	SNP	T	TCGA-CV-A465-01A-11D-A25Y-08	54874674	68692363	112222897	6	64824											
F2RL2	2151	broad.mit.edu	37	chr5	75914376	75914376	+	Frame_Shift_Del	DEL	G	G	-																															cagccttccaaggcagaaaaGgggaactcttcaaaagaatt																										TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr5:75914376delG	ENST00000296641.4	-	2	359	c.156delC	c.(154-156)ccfs	p.P52fs	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000504899.1_Frame_Shift_Del_p.P30fs|IQGAP2_ENST00000274364.6_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	52					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AGGCAGAAAAGGGGAACTCTT	0.438													17	141	---	---	---	---					-	75914376	G	-	75914376	7	5	344	1	0	1	0	1	0	0	0	0	5383	987	35	0	972	0	F2RL2	5	75914376	Frame_Shift_Del	DEL	G	TCGA-CV-A465-01A-11D-A25Y-08	7222013	75914376	105000884	7	64825											
GPR98	84059	broad.mit.edu	37	chr5	89953816	89953816	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctatgagcggaaactgacGcttgaagaaatttatgaact	14	11	9	7	2	0	5	0	4	0	1	1	6	1	6	1	1	3	1	1	1	6	4			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr5:89953816G>A	ENST00000405460.2	+	21	4569	c.4473G>A	c.(4471-4473)acG>acA	p.T1491T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1491					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAAACTGACGCTTGAAGAAA	0.428													31	78					0	0	0	0	A	89953816	G	A	89953816	2	1	344	1	0	0	0	0	0	0	0	1	6771	1074	38	1		1	GPR98	5	89953816	Silent	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08	14039440	89953816	90961444	8	64826											
PSD2	84249	broad.mit.edu	37	chr5	139189169	139189169	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctgcagcccagggcaCgagcgaaggggcaccccagc	9	2	14	16	2	1	0	0	0	1	0	1	2	1	0	4	3	5	3	4	3	1	0			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr5:139189169C>T	ENST00000274710.3	+	2	349	c.144C>T	c.(142-144)caC>caT	p.H48H		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	48					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAGGGCACGAGCGAAGGG	0.652													5	46					0	0	0	0	T	139189169	C	T	139189169	2	4	344	1	0	0	0	0	0	0	0	1	12726	535	19	1		1	PSD2	5	139189169	Silent	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08	49235353	139189169	41726091	9	64827											
PCDHGA4	56111	broad.mit.edu	37	chr5	140734776	140734776	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggggttgtaatggcggcGcctcctgctcgcccagacca	5	7	15	14	4	0	1	0	0	0	1	2	1	1	1	4	5	1	3	4	5	1	2			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr5:140734776G>A	ENST00000571252.1	+	1	9	c.9G>A	c.(7-9)gcG>gcA	p.A3A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGGCGGCGCCTCCTGCTC	0.602													8	42					0	0	0	0	A	140734776	G	A	140734776	2	1	344	1	0	0	0	0	0	0	0	1	11627	1074	38	1		1	PCDHGA4	5	140734776	Silent	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08	1545607	140734776	40180484	10	64828											
GFOD1	54438	broad.mit.edu	37	chr6	13365014	13365014	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcggcgcatggcctcGctgatcaggtaggcggggct	4	8	17	12	4	1	1	1	1	0	0	2	1	1	1	1	6	2	5	1	6	1	1			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr6:13365014G>A	ENST00000379287.3	-	2	1798	c.1134C>T	c.(1132-1134)agC>agT	p.S378S	GFOD1_ENST00000379284.1_Silent_p.S275S	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	378						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GCATGGCCTCGCTGATCAGGT	0.612													15	21					0	0	0	0	A	13365014	G	A	13365014	2	1	344	1	0	0	0	0	0	0	0	1	6394	1078	38	1		1	GFOD1	6	13365014	Silent	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08		13365014	157750053	11	64829											
TJAP1	93643	broad.mit.edu	37	chr6	43469294	43469294	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggagaatgaagagcttcgCcggcgcctggcctccgccac	8	5	14	14	4	0	3	0	1	0	2	2	5	1	3	5	3	1	1	5	3	2	1			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr6:43469294C>G	ENST00000372444.2	+	7	592	c.159C>G	c.(157-159)cgC>cgG	p.R53R	TJAP1_ENST00000372445.5_Silent_p.R53R|TJAP1_ENST00000372449.1_Silent_p.R53R|TJAP1_ENST00000372452.1_Silent_p.R53R|TJAP1_ENST00000436109.2_Silent_p.R53R|TJAP1_ENST00000259751.1_Silent_p.R53R|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000438588.2_Silent_p.R53R	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	53						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AAGAGCTTCGCCGGCGCCTGG	0.632													7	49					0	0	0	0	G	43469294	C	G	43469294	2	3	344	1	0	0	0	0	0	0	0	1	16022	726	26	4		4	TJAP1	6	43469294	Silent	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08	30104280	43469294	127645773	12	64830											
PARP10	84875	broad.mit.edu	37	chr8	145057416	145057416	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccaagtggcgggcagCacgggcagggtgggccccga	7	3	18	13	3	0	0	0	0	0	0	0	1	0	0	4	5	2	3	4	5	1	0			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr8:145057416C>A	ENST00000313028.7	-	8	2435	c.2341G>T	c.(2341-2343)Gct>Tct	p.A781S	PARP10_ENST00000525773.1_Missense_Mutation_p.A793S|PARP10_ENST00000524918.1_Missense_Mutation_p.A772S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	781	Myc binding.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCGGGCAGCACGGGCAGGG	0.652													9	30					0.307466	0.307466	1	0	A	145057416	C	A	145057416	3	1	344	1	0	0	0	0	1	0	0	0	11526	710	25	4	752	4	PARP10	8	145057416	Missense_Mutation	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08		145057416	1306606	13	64831											
CDKN2A	1029	broad.mit.edu	37	chr9	21971023	21971023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaggtccacgggcagaCggccccaggcatcgcgcacg	8	2	14	17	5	0	1	0	0	0	1	2	1	1	1	4	4	1	3	4	4	0	0			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr9:21971023C>T	ENST00000304494.5	-	2	605	c.335G>A	c.(334-336)cGt>cAt	p.R112H	CDKN2A_ENST00000497750.1_Missense_Mutation_p.R61H|CDKN2A_ENST00000579755.1_Silent_p.P126P|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R61H|CDKN2A_ENST00000361570.3_Silent_p.P167P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R61H|CDKN2A_ENST00000530628.2_Silent_p.P126P|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R61H|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R61H	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	112			R -> RR (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.0(1)|p.R112P(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.R112fs*32(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACGGGCAGACGGCCCCAGGC	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	21					0	0	0	0	T	21971023	C	T	21971023	3	4	344	1	0	0	0	0	1	0	0	0	3190	536	19	1	143	1	CDKN2A	9	21971023	Missense_Mutation	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08		21971023	119242408	14	64832											
NOTCH1	4851	broad.mit.edu	37	chr9	139401062	139401062	+	Frame_Shift_Del	DEL	A	A	-																															cttgcagggcttgcctttgcAgccattgatgacggactcgc																										TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr9:139401062delA	ENST00000277541.6	-	24	4006	c.3931delT	c.(3931-3933)gcfs	p.C1311fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1311	EGF-like 34.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGCCTTTGCAGCCATTGATG	0.687			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			6	8	---	---	---	---					-	139401062	A	-	139401062	7	5	344	1	0	1	0	1	0	0	0	0	10617	188	7	0	3780	0	NOTCH1	9	139401062	Frame_Shift_Del	DEL	A	TCGA-CV-A465-01A-11D-A25Y-08	117430039	139401062	1812369	15	64833											
ITGA8	8516	broad.mit.edu	37	chr10	15686110	15686110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcatgtgaggcccacaCtccttgcagaacttgggaag	11	7	12	11	0	0	2	0	1	0	1	1	4	1	3	2	2	3	2	2	2	2	2			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr10:15686110C>T	ENST00000378076.3	-	13	1671	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	440					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GAGGCCCACACTCCTTGCAGA	0.443													8	61					0	0	0	0	T	15686110	C	T	15686110	3	4	344	1	0	0	0	0	1	0	0	0	7935	565	20	4	1945	4	ITGA8	10	15686110	Missense_Mutation	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08		15686110	119848637	16	64834											
KIAA1462	57608	broad.mit.edu	37	chr10	30316882	30316882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtagggaatgctgtgtgcGtctgagcttcggaggcagca	7	9	17	8	3	1	1	0	1	1	0	2	3	1	3	0	4	4	5	0	4	2	2			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr10:30316882G>A	ENST00000375377.1	-	3	2296	c.2195C>T	c.(2194-2196)aCg>aTg	p.T732M		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	732								p.T732M(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGCTGTGTGCGTCTGAGCTTC	0.577													7	50					0	0	0	0	A	30316882	G	A	30316882	3	1	344	1	0	0	0	0	1	0	0	0	8285	1145	40	1	1892	1	KIAA1462	10	30316882	Missense_Mutation	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08	14630772	30316882	105217865	17	64835											
NRAP	4892	broad.mit.edu	37	chr10	115368262	115368262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatgagtggggatgctgccGatatttactctgaattcaca	11	12	11	7	1	2	2	1	2	1	0	2	5	2	3	1	2	3	1	1	2	4	4			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr10:115368262G>A	ENST00000369358.4	-	32	3881	c.3637C>T	c.(3637-3639)Cgg>Tgg	p.R1213W	NRAP_ENST00000359988.3_Missense_Mutation_p.R1205W|NRAP_ENST00000360478.3_Missense_Mutation_p.R1170W|NRAP_ENST00000369360.3_Missense_Mutation_p.R1178W			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1205						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGATGCTGCCGATATTTACTC	0.438													20	154					0	0	0	0	A	115368262	G	A	115368262	3	1	344	1	0	0	0	0	1	0	0	0	10709	1057	37	1	1623	1	NRAP	10	115368262	Missense_Mutation	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08	85051380	115368262	20166485	18	64836											
CRY2	1408	broad.mit.edu	37	chr11	45891303	45891303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggatccaccacctggccCggcatgccgtggcctgcttc	4	8	12	17	2	0	0	0	0	0	0	2	1	1	1	6	4	2	3	6	4	0	1			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr11:45891303C>T	ENST00000443527.2	+	7	1214	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	CRY2_ENST00000417225.2_Missense_Mutation_p.R316W	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	377	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CCACCTGGCCCGGCATGCCGT	0.647													11	82					0	0	0	0	T	45891303	C	T	45891303	3	4	344	1	0	0	0	0	1	0	0	0	3934	643	23	1	1254	1	CRY2	11	45891303	Missense_Mutation	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08		45891303	89115213	19	64837											
OR5B12	390191	broad.mit.edu	37	chr11	58207049	58207049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaaaataaccatctcactGatgtagttgtctgaacatga	17	11	6	7	0	2	3	1	3	2	0	3	3	2	3	1	0	2	2	1	0	6	3			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr11:58207049G>A	ENST00000302572.2	-	1	597	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCATCTCACTGATGTAGTTGT	0.383													13	66					0	0	0	0	A	58207049	G	A	58207049	2	1	344	1	0	0	0	0	0	0	0	1	11219	1280	45	2		2	OR5B12	11	58207049	Silent	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08	12315746	58207049	76799467	20	64838											
TAPBPL	55080	broad.mit.edu	37	chr12	6567843	6567843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacgactgagcttggcaaacGaagctctgctgcccaccctc	9	8	9	15	2	1	1	0	1	1	0	2	3	1	1	2	1	6	4	2	1	3	2			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr12:6567843G>A	ENST00000266556.7	+	5	1102	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	TAPBPL_ENST00000544021.1_3'UTR|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	313	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CTTGGCAAACGAAGCTCTGCT	0.552													9	90					0	0	0	0	A	6567843	G	A	6567843	3	1	344	1	0	0	0	0	1	0	0	0	15644	1059	37	1	955	1	TAPBPL	12	6567843	Missense_Mutation	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08		6567843	127284052	21	64839											
E2F7	144455	broad.mit.edu	37	chr12	77421911	77421911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcaaggtctgtggaatctGagggtttctaaacacaacca	13	9	11	8	0	3	1	0	1	3	0	3	2	3	2	1	4	2	2	1	4	5	2			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr12:77421911G>A	ENST00000322886.7	-	11	2127	c.1892C>T	c.(1891-1893)tCa>tTa	p.S631L	E2F7_ENST00000416496.2_Missense_Mutation_p.S631L	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	631					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGTGGAATCTGAGGGTTTCTA	0.423													10	85					0	0	0	0	A	77421911	G	A	77421911	3	1	344	1	0	0	0	0	1	0	0	0	4908	1294	45	2	855	2	E2F7	12	77421911	Missense_Mutation	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08	70854068	77421911	56429984	22	64840											
DTX1	1840	broad.mit.edu	37	chr12	113532922	113532922	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgcagccgcctgggaagatgGagttccacctcatcccccac	8	6	10	17	2	1	1	1	0	0	1	3	3	3	3	6	2	1	2	6	2	1	1			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr12:113532922G>C	ENST00000257600.3	+	7	1965	c.1462G>C	c.(1462-1464)Gag>Cag	p.E488Q	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	488					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.E488*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGGGAAGATGGAGTTCCACCT	0.647													8	82					0	0	0	0	C	113532922	G	C	113532922	3	2	344	1	0	0	0	0	1	0	0	0	4829	1175	41	2	1488	2	DTX1	12	113532922	Missense_Mutation	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08	36111011	113532922	20318973	23	64841											
TMEM132B	114795	broad.mit.edu	37	chr12	126137126	126137126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacaccgagcagacaaaaGggccatcgtctccacagctg	12	4	10	15	2	1	1	0	0	1	1	3	2	1	1	4	1	2	2	4	1	2	0			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr12:126137126G>T	ENST00000299308.3	+	8	2047	c.2039G>T	c.(2038-2040)aGg>aTg	p.R680M	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R192M	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	680						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCAGACAAAAGGGCCATCGTC	0.607													11	78					9.05144e-12	1.00958e-11	1	0	T	126137126	G	T	126137126	3	4	344	1	0	0	0	0	1	0	0	0	16140	1000	35	4	2069	4	TMEM132B	12	126137126	Missense_Mutation	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08	12604204	126137126	7714769	24	64842											
DYNC1H1	1778	broad.mit.edu	37	chr14	102471452	102471452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcactgagcagcatgggcgGaggtggagatgccgcgccct	7	5	17	12	4	0	2	0	1	0	1	0	4	0	3	2	4	3	3	2	4	0	0			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr14:102471452G>T	ENST00000360184.4	+	26	5476	c.5312G>T	c.(5311-5313)gGa>gTa	p.G1771V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1771	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGCATGGGCGGAGGTGGAGAT	0.572													15	45					1.49906e-05	1.5526e-05	1	0	T	102471452	G	T	102471452	3	4	344	1	0	0	0	0	1	0	0	0	4877	1174	41	2	5414	2	DYNC1H1	14	102471452	Missense_Mutation	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08		102471452	4878088	25	64843											
POLG	5428	broad.mit.edu	37	chr15	89861842	89861842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctcccgcaccaggtagcGaacctcgtcatggatgctga	8	8	10	15	3	1	1	1	1	0	0	4	3	3	2	4	2	3	3	4	2	2	1			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr15:89861842G>A	ENST00000268124.5	-	21	3745	c.3412C>T	c.(3412-3414)Cgc>Tgc	p.R1138C	POLG_ENST00000442287.2_Missense_Mutation_p.R1138C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1138					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACCAGGTAGCGAACCTCGTCA	0.582								DNA polymerases (catalytic subunits)					8	80					0	0	0	0	A	89861842	G	A	89861842	3	1	344	1	0	0	0	0	1	0	0	0	12272	1058	37	1	319	1	POLG	15	89861842	Missense_Mutation	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08		89861842	12669550	26	64844											
ADAMTS17	170691	broad.mit.edu	37	chr15	100821560	100821560	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggatagcgttcctccgCtcccgccagtcccgcgaagg	6	6	12	17	6	0	0	0	0	0	0	4	2	4	1	6	2	2	2	6	2	2	2			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr15:100821560C>T	ENST00000268070.4	-	4	768	c.663G>A	c.(661-663)gaG>gaA	p.E221E		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	221					proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CGTTCCTCCGCTCCCGCCAGT	0.617													5	26					0	0	0	0	T	100821560	C	T	100821560	2	4	344	1	0	0	0	0	0	0	0	1	262	796	28	4		4	ADAMTS17	15	100821560	Silent	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08	10959718	100821560	1709832	27	64845											
CEMP1	752014	broad.mit.edu	37	chr16	2580950	2580950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgcctgtgctgggcctGggagaggagctgtcttgcca	4	9	16	12	1	1	1	0	0	1	1	1	3	1	2	4	3	4	2	4	3	0	1			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr16:2580950G>A	ENST00000382350.1	-	1	470	c.125C>T	c.(124-126)cCa>cTa	p.P42L	AMDHD2_ENST00000413459.3_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.P42L|CEMP1_ENST00000565480.1_Missense_Mutation_p.P42L|AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000565570.1_3'UTR			Q6PRD7	CEMP1_HUMAN	cementum protein 1	42						cytoplasm				lung(1)|skin(1)	2						TGCTGGGCCTGGGAGAGGAGC	0.642													3	42					0	0	0	0	A	2580950	G	A	2580950	3	1	344	1	0	0	0	0	1	0	0	0	3253	1348	47	4	622	4	CEMP1	16	2580950	Missense_Mutation	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08		2580950	87773803	28	64846											
KIAA0556	23247	broad.mit.edu	37	chr16	27640094	27640094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagctgaaatcatcaccgCggaaagctattcactctgac	12	8	9	12	3	4	2	3	2	1	0	4	4	4	4	1	2	2	2	1	2	3	2	rs150389178		TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr16:27640094C>T	ENST00000261588.4	+	4	272	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	85										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATCATCACCGCGGAAAGCTAT	0.532													12	158					0	0	0	0	T	27640094	C	T	27640094	3	4	344	1	0	0	0	0	1	0	0	0	8234	759	27	1	267	1	KIAA0556	16	27640094	Missense_Mutation	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08	25059144	27640094	62714659	29	64847											
CMTM2	146225	broad.mit.edu	37	chr16	66613625	66613625	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagccatcggacaaacctCaaaaggcggtgcaggaccat	14	4	12	11	2	1	0	1	0	0	0	2	3	1	3	3	5	3	1	3	5	3	0			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr16:66613625C>G	ENST00000268595.2	+	1	266	c.115C>G	c.(115-117)Caa>Gaa	p.Q39E	CMTM2_ENST00000379486.2_Missense_Mutation_p.Q39E	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	39					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		GGACAAACCTCAAAAGGCGGT	0.627													12	113					0	0	0	0	G	66613625	C	G	66613625	3	3	344	1	0	0	0	0	1	0	0	0	3613	827	29	2	117	2	CMTM2	16	66613625	Missense_Mutation	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08	38973531	66613625	23741128	30	64848											
MBTPS1	8720	broad.mit.edu	37	chr16	84132827	84132828	+	Frame_Shift_Ins	INS	-	-	T																															ttcgaggtataattctccaaINSttgtctacttcactgctctt																										TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr16:84132827_84132828insT	ENST00000343411.3	-	3	746_747	c.251_252insA	c.(250-252)atgfs	p.M84fs		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	84					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAATTCTCCAATTGTCTACTTC	0.381													14	196	---	---	---	---					T	84132828	-	T	84132827	7	5	344	1	0	1	1	0	0	0	0	0	9430	98	4	0	2990	0	MBTPS1	16	84132827	Frame_Shift_Ins	INS	-	TCGA-CV-A465-01A-11D-A25Y-08	17519202	84132827	6221926	31	64849											
C1QBP	708	broad.mit.edu	37	chr17	5336447	5336447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaagtgttgtccacccctCggtcggcaaggaaatccatt	11	9	9	12	2	0	0	0	0	0	0	4	1	2	1	4	3	0	2	4	3	4	2			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr17:5336447C>T	ENST00000225698.4	-	6	818	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	C1QBP_ENST00000574444.1_Missense_Mutation_p.R142Q	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	246					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				lung(2)|ovary(1)	3						GTCCACCCCTCGGTCGGCAAG	0.413													6	46					0	0	0	0	T	5336447	C	T	5336447	3	4	344	1	0	0	0	0	1	0	0	0	1975	884	31	1	115	1	C1QBP	17	5336447	Missense_Mutation	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08		5336447	75858763	32	64850											
TP53	7157	broad.mit.edu	37	chr17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgcaagaagcccagaCggaaaccgtagctgccctgg	13	4	12	12	2	0	3	0	0	0	3	0	4	0	4	3	2	5	3	3	2	5	1	rs11540654		TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr17:7579358C>A	ENST00000420246.2	-	4	461	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAAGCCCAGACGGAAACCGTA	0.612		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	50					1.66031e-10	1.81694e-10	1	0	A	7579358	C	A	7579358	3	1	344	1	0	0	0	0	1	0	0	0	16476	536	19	3	973	3	TP53	17	7579358	Missense_Mutation	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08	2242911	7579358	73615852	33	64851											
PIRT	644139	broad.mit.edu	37	chr17	10728855	10728855	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtggtccagacagactcgctCctggagctgatgcacaggga	9	7	14	11	1	0	3	0	1	0	2	3	5	2	5	2	3	2	3	2	3	0	0			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr17:10728855C>G	ENST00000580256.1	-	2	746	c.108G>C	c.(106-108)agG>agC	p.R36S		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	36						integral to membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						CAGACTCGCTCCTGGAGCTGA	0.592													3	15					0	0	0	0	G	10728855	C	G	10728855	3	3	344	1	0	0	0	0	1	0	0	0	12017	854	30	2	309	2	PIRT	17	10728855	Missense_Mutation	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08	3149497	10728855	70466355	34	64852											
KRT14	3861	broad.mit.edu	37	chr17	39740038	39740038	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaagaaccattcctcggcatCcttgcggttcttctctgcca	7	12	8	14	2	2	1	0	0	2	1	6	2	4	1	4	2	3	2	4	2	2	4			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr17:39740038C>G	ENST00000167586.6	-	4	987	c.901G>C	c.(901-903)Gat>Cat	p.D301H		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	301	Coil 2.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TCCTCGGCATCCTTGCGGTTC	0.547													40	245					0	0	0	0	G	39740038	C	G	39740038	3	3	344	1	0	0	0	0	1	0	0	0	8503	855	30	2	537	2	KRT14	17	39740038	Missense_Mutation	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08	29011183	39740038	41455172	35	64853											
SIGLEC15	284266	broad.mit.edu	37	chr18	43417720	43417720	+	Frame_Shift_Del	DEL	A	A	-																															gccgcttccggctgctgggcAacccgcgccgcaacgacctc																										TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr18:43417720delA	ENST00000389474.3	+	3	572	c.355delA	c.(355-357)acfs	p.N119fs	SIGLEC15_ENST00000602118.2_Intron|SIGLEC15_ENST00000546268.1_5'UTR	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	119	Ig-like V-type.					integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						GCTGCTGGGCAACCCGCGCCG	0.741													2	4	---	---	---	---					-	43417720	A	-	43417720	7	5	344	1	0	1	0	1	0	0	0	0	14398	130	5	0	365	0	SIGLEC15	18	43417720	Frame_Shift_Del	DEL	A	TCGA-CV-A465-01A-11D-A25Y-08		43417720	34659528	36	64854											
NOTCH3	4854	broad.mit.edu	37	chr19	15299867	15299867	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtttcggcagggcccCgacagacactcgttgacatc	7	8	12	14	3	0	2	0	1	0	1	3	3	0	2	3	3	0	3	3	3	0	2			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr19:15299867C>T	ENST00000263388.2	-	8	1386	c.1311G>A	c.(1309-1311)tcG>tcA	p.S437S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	437	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGCAGGGCCCCGACAGACACT	0.642													5	39					0	0	0	0	T	15299867	C	T	15299867	2	4	344	1	0	0	0	0	0	0	0	1	10620	639	23	1		1	NOTCH3	19	15299867	Silent	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08		15299867	43829116	37	64855											
SLC5A5	6528	broad.mit.edu	37	chr19	17983280	17983280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaggacttcttcaccggggGccggcgcctggcggccctgc	3	7	16	15	4	2	1	1	1	1	0	2	2	2	2	4	6	1	0	4	6	0	2			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr19:17983280G>T	ENST00000222248.3	+	1	499	c.152G>T	c.(151-153)gGc>gTc	p.G51V		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	51					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTCACCGGGGGCCGGCGCCTG	0.716													4	17					0.00024832	0.000252676	1	0	T	17983280	G	T	17983280	3	4	344	1	0	0	0	0	1	0	0	0	14756	1203	42	4	154	4	SLC5A5	19	17983280	Missense_Mutation	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08	2683413	17983280	41145703	38	64856											
HAO1	54363	broad.mit.edu	37	chr20	7921018	7921018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatatagactttggaagtaCtgatttagcatgttgttcat	12	17	8	4	0	1	2	1	1	0	1	1	3	1	3	0	1	2	4	0	1	6	9			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr20:7921018C>G	ENST00000378789.3	-	1	103	c.52G>C	c.(52-54)Gta>Cta	p.V18L		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	18	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTTGGAAGTACTGATTTAGCA	0.343													33	79					0	0	0	0	G	7921018	C	G	7921018	3	3	344	1	0	0	0	0	1	0	0	0	7001	565	20	4	1092	4	HAO1	20	7921018	Missense_Mutation	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08		7921018	55104502	39	64857											
SS18L1	26039	broad.mit.edu	37	chr20	60749689	60749689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcagcagcggccctacGgctatgaacaggcaagcttt	10	6	11	14	2	0	1	0	1	0	0	0	1	0	1	2	3	6	5	2	3	4	3			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chr20:60749689G>A	ENST00000331758.3	+	10	1179	c.1153G>A	c.(1153-1155)Ggc>Agc	p.G385S	SS18L1_ENST00000421564.1_Missense_Mutation_p.G385S|SS18L1_ENST00000370848.4_Missense_Mutation_p.G388S	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	385	Gln-rich.|Necessary for nuclear localization (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GCGGCCCTACGGCTATGAACA	0.582			T	SSX1	synovial sarcoma								45	131					0	0	0	0	A	60749689	G	A	60749689	3	1	344	1	0	0	0	0	1	0	0	0	15266	1116	39	1	1191	1	SS18L1	20	60749689	Missense_Mutation	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08	52828671	60749689	2275831	40	64858											
HUWE1	10075	broad.mit.edu	37	chrX	53655770	53655771	+	Frame_Shift_Del	DEL	AC	AC	-																															tggtaggaggcagttccagtAcagtcaataatactgctgag																										TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chrX:53655770_53655771delAC	ENST00000342160.3	-	13	1503_1504	c.1046_1047delGT	c.(1045-1047)tfs	p.C349fs	HUWE1_ENST00000262854.6_Frame_Shift_Del_p.C349fs|HUWE1_ENST00000218328.8_Frame_Shift_Del_p.C349fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	349					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGTTCCAGTACAGTCAATAAT	0.391													7	41	---	---	---	---					-	53655771	AC	-	53655770	7	5	344	1	0	1	0	1	0	0	0	0	7514	389	14	0	12361	0	HUWE1	23	53655770	Frame_Shift_Del	DEL	AC	TCGA-CV-A465-01A-11D-A25Y-08		53655770	101614790	41	64859											
PHF8	23133	broad.mit.edu	37	chrX	54014374	54014374	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gataaactcttcacccttttCgtactgaagggaaggagaac	13	10	9	9	1	2	2	1	1	1	1	3	5	2	3	1	2	3	1	1	2	6	5			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chrX:54014374C>T	ENST00000338154.6	-	15	2238	c.1734G>A	c.(1732-1734)acG>acA	p.T578T	PHF8_ENST00000338946.6_Silent_p.T477T|PHF8_ENST00000357988.5_Silent_p.T614T|PHF8_ENST00000322659.8_Silent_p.T578T	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	614					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TCACCCTTTTCGTACTGAAGG	0.418													11	20					0	0	0	0	T	54014374	C	T	54014374	2	4	344	1	0	0	0	0	0	0	0	1	11912	871	31	1		1	PHF8	23	54014374	Silent	SNP	C	TCGA-CV-A465-01A-11D-A25Y-08	358604	54014374	101256186	42	64860											
UPF3B	65109	broad.mit.edu	37	chrX	118972412	118972412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actggctctttcatcactgaGattctctttgtccaatttct	7	18	5	11	0	5	1	2	1	3	1	7	2	6	1	1	1	0	1	1	1	1	4			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3EA64051-624A-41EF-9390-3DEFC46B3C21	93B1E300-E643-4A9D-9B48-92E3DD3EB0CE	g.chrX:118972412G>A	ENST00000276201.2	-	9	994	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Missense_Mutation_p.L296F	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	309	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCATCACTGAGATTCTCTTTG	0.378													37	94					0	0	0	0	A	118972412	G	A	118972412	3	1	344	1	0	0	0	0	1	0	0	0	17102	942	33	2	538	2	UPF3B	23	118972412	Missense_Mutation	SNP	G	TCGA-CV-A465-01A-11D-A25Y-08	64958038	118972412	36298148	43	64861											
PLEKHN1	84069	broad.mit.edu	37	chr1	907470	907470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagggggagctcccactcCgtgccgtccacatcaacctg	7	6	11	17	3	1	0	1	0	0	0	4	1	4	1	5	2	3	2	5	2	1	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:907470C>T	ENST00000379409.2	+	8	991	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C	PLEKHN1_ENST00000379407.2_Missense_Mutation_p.R281C|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R269C			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	321	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCTCCCACTCCGTGCCGTCCA	0.667													5	83					0	0	0	0	T	907470	C	T	907470	3	4	345	1	0	0	0	0	1	0	0	0	12155	652	23	1	875	1	PLEKHN1	1	907470	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08		907470	248343151	1	64862											
AJAP1	55966	broad.mit.edu	37	chr1	4772086	4772086	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccggggccggagttctggctCctgccgcggtcgccgccccg	1	6	16	18	7	1	0	0	0	1	0	3	1	2	1	7	5	1	2	7	5	0	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:4772086C>T	ENST00000378191.4	+	2	537	c.156C>T	c.(154-156)ctC>ctT	p.L52L	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Silent_p.L52L	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	52					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		AGTTCTGGCTCCTgccgcggt	0.741													11	197					0	0	0	0	T	4772086	C	T	4772086	2	4	345	1	0	0	0	0	0	0	0	1	438	842	30	2		2	AJAP1	1	4772086	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3864616	4772086	244478535	2	64863											
PER3	8863	broad.mit.edu	37	chr1	7863183	7863183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctacctgcaccctgaagatCgttctctgatggttgccata	8	12	9	12	1	1	3	0	2	1	1	3	3	1	3	3	1	3	4	3	1	3	4	rs145870917		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:7863183C>T	ENST00000377532.3	+	8	1173	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	PER3_ENST00000377541.1_Missense_Mutation_p.R316C|PER3_ENST00000361923.2_Missense_Mutation_p.R316C			P56645	PER3_HUMAN	period circadian clock 3	316	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGAAGATCGTTCTCTGAT	0.428													5	116					0	0	0	0	T	7863183	C	T	7863183	3	4	345	1	0	0	0	0	1	0	0	0	11802	884	31	1	976	1	PER3	1	7863183	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3091097	7863183	241387438	3	64864											
MFN2	9927	broad.mit.edu	37	chr1	12067148	12067148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggctcattgccctctcCtttgggctctatggcctcct	2	14	10	15	1	3	0	1	0	2	0	5	0	4	0	4	4	1	2	4	4	1	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:12067148C>T	ENST00000235329.5	+	17	2233	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S	MFN2_ENST00000444836.1_Silent_p.S637S	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	637					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTGCCCTCTCCTTTGGGCTCT	0.632													7	201					0	0	0	0	T	12067148	C	T	12067148	2	4	345	1	0	0	0	0	0	0	0	1	9593	668	24	4		4	MFN2	1	12067148	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	4203965	12067148	237183473	4	64865											
C1orf158	93190	broad.mit.edu	37	chr1	12819360	12819360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccggggctgcctccactcCgcacttggaatggacagaag	9	6	12	14	2	0	1	0	0	0	1	2	3	2	3	4	4	1	2	4	4	2	1	rs143618581	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:12819360C>T	ENST00000288048.5	+	3	559	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	C1orf158_ENST00000376210.3_Missense_Mutation_p.R77C	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	115										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCACTCCGCACTTGGAA	0.542													10	217					0	0	0	0	T	12819360	C	T	12819360	3	4	345	1	0	0	0	0	1	0	0	0	2026	652	23	1	353	1	C1orf158	1	12819360	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	752212	12819360	236431261	5	64866											
PRAMEF2	65122	broad.mit.edu	37	chr1	12919781	12919781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccagtgggtttaccaaaGgagaggtttagtacacctgt	10	12	11	8	0	0	1	0	0	0	1	1	2	1	1	3	3	2	3	3	3	4	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:12919781G>T	ENST00000240189.2	+	3	608	c.521G>T	c.(520-522)aGg>aTg	p.R174M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	174										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTACCAAAGGAGAGGTTTA	0.403													25	592					6.36457e-07	6.47526e-07	1	0	T	12919781	G	T	12919781	3	4	345	1	0	0	0	0	1	0	0	0	12512	1000	35	4	527	4	PRAMEF2	1	12919781	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	100421	12919781	236330840	6	64867											
HSPG2	3339	broad.mit.edu	37	chr1	22182344	22182344	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaactccgccagttgcccGggctgcactgtgagctgtgg	5	8	15	13	3	0	1	0	1	0	0	1	2	1	2	3	3	4	4	3	3	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:22182344G>A	ENST00000374695.3	-	45	5716	c.5637C>T	c.(5635-5637)ccC>ccT	p.P1879P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1879	Ig-like C2-type 4.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCAGTTGCCCGGGCTGCACTG	0.652													4	38					0	0	0	0	A	22182344	G	A	22182344	2	1	345	1	0	0	0	0	0	0	0	1	7483	1103	39	1		1	HSPG2	1	22182344	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	9262563	22182344	227068277	7	64868											
UBXN11	91544	broad.mit.edu	37	chr1	26610676	26610676	+	Missense_Mutation	SNP	C	C	T																															cccggatgtcaatcacctcgCcttgccggatcacaaacttg																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:26610676C>T	ENST00000314675.7	-	8	753	c.674G>A	c.(673-675)gGc>gAc	p.G225D	UBXN11_ENST00000374223.1_Missense_Mutation_p.G102D|UBXN11_ENST00000374217.2_Missense_Mutation_p.G312D|UBXN11_ENST00000374221.3_Missense_Mutation_p.G345D|UBXN11_ENST00000374222.1_Missense_Mutation_p.G345D|UBXN11_ENST00000357089.4_Missense_Mutation_p.G312D	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	345						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						AATCACCTCGCCTTGCCGGAT	0.592													12	185					0	0	0	0	T	26610676	C	T	26610676	3	4	345	1	0	0	0	0	1	0	0	0	17009	739	26	4	544	4	UBXN11	1	26610676	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	4428332	26610676	222639945	8	64869	778	2									
UBXN11	91544	broad.mit.edu	37	chr1	26610677	26610677	+	Missense_Mutation	SNP	C	C	T																															ccggatgtcaatcacctcgcCttgccggatcacaaacttgg																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:26610677C>T	ENST00000314675.7	-	8	752	c.673G>A	c.(673-675)Ggc>Agc	p.G225S	UBXN11_ENST00000374223.1_Missense_Mutation_p.G102S|UBXN11_ENST00000374217.2_Missense_Mutation_p.G312S|UBXN11_ENST00000374221.3_Missense_Mutation_p.G345S|UBXN11_ENST00000374222.1_Missense_Mutation_p.G345S|UBXN11_ENST00000357089.4_Missense_Mutation_p.G312S	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	345						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ATCACCTCGCCTTGCCGGATC	0.592													11	186					0	0	0	0	T	26610677	C	T	26610677	3	4	345	1	0	0	0	0	1	0	0	0	17009	681	24	4	545	4	UBXN11	1	26610677	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1	26610677	222639944	9	64870	778	2									
EPB41	2035	broad.mit.edu	37	chr1	29323785	29323785	+	Frame_Shift_Del	DEL	A	A	-																															tgagcatctcaatcttttggAagaagactattttggtctag																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:29323785delA	ENST00000343067.4	+	4	867	c.740delA	c.(739-741)gafs	p.E248fs	EPB41_ENST00000398863.2_Frame_Shift_Del_p.E248fs|EPB41_ENST00000373797.1_Frame_Shift_Del_p.E248fs|EPB41_ENST00000373800.3_Frame_Shift_Del_p.E39fs|EPB41_ENST00000356093.2_Frame_Shift_Del_p.E248fs|EPB41_ENST00000349460.4_Frame_Shift_Del_p.E39fs|EPB41_ENST00000347529.3_Intron|EPB41_ENST00000373798.1_Frame_Shift_Del_p.E248fs	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	248	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AATCTTTTGGAAGAAGACTAT	0.363													8	144	---	---	---	---					-	29323785	A	-	29323785	7	5	345	1	0	1	0	1	0	0	0	0	5189	246	9	0	750	0	EPB41	1	29323785	Frame_Shift_Del	DEL	A	TCGA-CV-A468-01A-11D-A25Y-08	2713108	29323785	219926836	10	64871											
CSMD2	114784	broad.mit.edu	37	chr1	34383840	34383840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgttatggtactccgaggGgaagtgggggctggagatga	9	10	18	4	1	0	2	0	1	0	1	1	5	1	3	1	6	1	3	1	6	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:34383840G>A	ENST00000373381.4	-	5	951	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	219	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TACTCCGAGGGGAAGTGGGGG	0.582													4	50					0	0	0	0	A	34383840	G	A	34383840	3	1	345	1	0	0	0	0	1	0	0	0	3977	1232	43	4	10068	4	CSMD2	1	34383840	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	5060055	34383840	214866781	11	64872											
GJB4	127534	broad.mit.edu	37	chr1	35227131	35227131	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcccctcactgctcgtggtCatgcacgtggcctaccgcga	5	9	11	16	4	2	0	2	0	0	0	3	1	2	0	4	2	4	2	4	2	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:35227131C>T	ENST00000339480.1	+	2	646	c.276C>T	c.(274-276)gtC>gtT	p.V92V	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	92					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGCTCGTGGTCATGCACGTGG	0.647													4	53					0	0	0	0	T	35227131	C	T	35227131	2	4	345	1	0	0	0	0	0	0	0	1	6461	813	29	2		2	GJB4	1	35227131	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	843291	35227131	214023490	12	64873											
NCDN	23154	broad.mit.edu	37	chr1	36026201	36026201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggacgatgctgcccgccgctCcatgattgatgacacctacc	8	8	10	15	3	0	3	0	3	0	0	1	5	1	4	5	1	3	2	5	1	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:36026201C>T	ENST00000373243.2	+	3	832	c.449C>T	c.(448-450)tCc>tTc	p.S150F	NCDN_ENST00000373253.3_Missense_Mutation_p.S133F|NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Missense_Mutation_p.S150F	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	150					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCCGCCGCTCCATGATTGAT	0.627													11	201					0	0	0	0	T	36026201	C	T	36026201	3	4	345	1	0	0	0	0	1	0	0	0	10284	855	30	2	459	2	NCDN	1	36026201	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	799070	36026201	213224420	13	64874											
C1orf216	127703	broad.mit.edu	37	chr1	36181693	36181693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgcaccccttcctcaGgggatccaggggcctggaag	6	6	15	14	1	1	0	1	0	0	0	3	2	3	2	5	6	1	2	5	6	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:36181693G>A	ENST00000270815.4	-	2	1000	c.230C>T	c.(229-231)cCt>cTt	p.P77L		NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	77										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCCTTCCTCAGGGGATCCAGG	0.632											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	113					0	0	0	0	A	36181693	G	A	36181693	3	1	345	1	0	0	0	0	1	0	0	0	2051	1000	35	4	463	4	C1orf216	1	36181693	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	155492	36181693	213068928	14	64875											
BMP8A	353500	broad.mit.edu	37	chr1	39988096	39988096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacgtccgcggctcccacgGccggcaggtctgccgtcggc	3	6	15	17	7	1	1	0	1	1	0	4	1	3	1	4	5	1	2	4	5	0	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:39988096G>A	ENST00000331593.5	+	5	1236	c.890G>A	c.(889-891)gGc>gAc	p.G297D	RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	297					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCTCCCACGGCCGGCAGGTC	0.592													7	87					0	0	0	0	A	39988096	G	A	39988096	3	1	345	1	0	0	0	0	1	0	0	0	1471	1203	42	4	908	4	BMP8A	1	39988096	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3806403	39988096	209262525	15	64876											
PTPRF	5792	broad.mit.edu	37	chr1	44019309	44019309	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagctcccagcgcttcgagGtgcgtctgtggtgggaaggg	5	9	17	10	3	2	0	1	0	1	0	4	2	3	1	1	4	3	2	1	4	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:44019309G>A	ENST00000359947.4	+	4	577		c.e4+1		PTPRF_ENST00000372414.3_Splice_Site|PTPRF_ENST00000372413.3_Splice_Site|PTPRF_ENST00000438120.1_Splice_Site	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCGCTTCGAGGTGCGTCTGTG	0.597													9	215					0	0	0	0	A	44019309	G	A	44019309	5	1	345	1	0	0	0	0	0	0	1	0	12883	1275	44	4	244	4	PTPRF	1	44019309	Splice_Site	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	4031213	44019309	205231312	16	64877											
TOE1	114034	broad.mit.edu	37	chr1	45807677	45807677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctgctgtgcatggaggaGtatgtcatagaaccaaagtc	12	10	11	8	0	2	1	1	0	1	1	3	3	2	3	1	2	3	3	1	2	4	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:45807677G>C	ENST00000372090.5	+	5	973	c.390G>C	c.(388-390)gaG>gaC	p.E130D	TOE1_ENST00000539779.1_Missense_Mutation_p.E50D|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	130						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GCATGGAGGAGTATGTCATAG	0.468													5	105					0	0	0	0	C	45807677	G	C	45807677	3	2	345	1	0	0	0	0	1	0	0	0	16443	1020	36	4	408	4	TOE1	1	45807677	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1788368	45807677	203442944	17	64878											
CC2D1B	200014	broad.mit.edu	37	chr1	52828415	52828415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaaactccataaagagccCcatctgagagcagagcagga	15	4	10	12	0	1	3	0	1	1	3	2	5	2	4	4	1	4	2	4	1	3	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:52828415C>T	ENST00000371586.2	-	3	211	c.73G>A	c.(73-75)Ggg>Agg	p.G25R	CC2D1B_ENST00000284376.3_Missense_Mutation_p.G25R|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	25										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						ATAAAGAGCCCCATCTGAGAG	0.577													9	176					0	0	0	0	T	52828415	C	T	52828415	3	4	345	1	0	0	0	0	1	0	0	0	2752	623	22	4	2591	4	CC2D1B	1	52828415	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	7020738	52828415	196422206	18	64879											
YIPF1	54432	broad.mit.edu	37	chr1	54344378	54344378	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccagaagggggagcttttCttctgtccagcaagtaactg	9	11	12	9	0	2	1	0	0	2	1	4	2	4	2	2	2	3	3	2	2	3	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:54344378C>T	ENST00000072644.1	-	5	549	c.213G>A	c.(211-213)aaG>aaA	p.K71K	YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Silent_p.K96K|YIPF1_ENST00000371399.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	71						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GGGAGCTTTTCTTCTGTCCAG	0.403													5	71					0	0	0	0	T	54344378	C	T	54344378	2	4	345	1	0	0	0	0	0	0	0	1	17573	912	32	2		2	YIPF1	1	54344378	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1515963	54344378	194906243	19	64880											
CYP2J2	1573	broad.mit.edu	37	chr1	60381704	60381704	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctttgattaagggcaaGccagtaataagaactgcaga	14	10	10	7	0	1	3	0	1	1	2	1	3	1	3	1	1	3	4	1	1	5	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:60381704G>A	ENST00000371204.3	-	2	322	c.279C>T	c.(277-279)ggC>ggT	p.G93G		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	93					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TTAAGGGCAAGCCAGTAATAA	0.393													8	155					0	0	0	0	A	60381704	G	A	60381704	2	1	345	1	0	0	0	0	0	0	0	1	4204	958	34	4		4	CYP2J2	1	60381704	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	6037326	60381704	188868917	20	64881											
LEPR	3953	broad.mit.edu	37	chr1	66075730	66075730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcgctgtaagaggctagatgGactgggatattggagtaatt	11	11	15	4	1	0	2	0	0	0	2	0	5	0	5	0	4	0	4	0	4	4	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:66075730G>A	ENST00000349533.6	+	13	2038	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.G618E|LEPR_ENST00000371058.1_Missense_Mutation_p.G618E|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.G618E|LEPR_ENST00000371059.3_Missense_Mutation_p.G618E	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	618	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGGCTAGATGGACTGGGATAT	0.413													10	199					0	0	0	0	A	66075730	G	A	66075730	3	1	345	1	0	0	0	0	1	0	0	0	8781	1174	41	2	1895	2	LEPR	1	66075730	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	5694026	66075730	183174891	21	64882											
LRRC7	57554	broad.mit.edu	37	chr1	70504289	70504289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaatacctagtcctttttctCcaggcgtaccatgggagtat	10	13	8	10	1	1	0	0	0	1	0	3	1	2	1	4	2	2	2	4	2	5	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:70504289C>T	ENST00000310961.5	+	22	3101	c.2683C>T	c.(2683-2685)Cca>Tca	p.P895S	LRRC7_ENST00000415775.2_Missense_Mutation_p.P174S|LRRC7_ENST00000035383.5_Missense_Mutation_p.P890S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	890						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCCTTTTTCTCCAGGCGTACC	0.433													9	142					0	0	0	0	T	70504289	C	T	70504289	3	4	345	1	0	0	0	0	1	0	0	0	9084	855	30	2	2742	2	LRRC7	1	70504289	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	4428559	70504289	178746332	22	64883											
C1orf173	127254	broad.mit.edu	37	chr1	75038709	75038709	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccttctctaaaccctgttcCccttcagaagctgctttgtc	6	14	6	15	0	2	1	1	0	1	1	5	1	3	1	4	0	3	3	4	0	3	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:75038709C>T	ENST00000326665.5	-	14	2903	c.2685G>A	c.(2683-2685)ggG>ggA	p.G895G	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	895	Glu-rich.									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						AACCCTGTTCCCCTTCAGAAG	0.512													15	304					0	0	0	0	T	75038709	C	T	75038709	2	4	345	1	0	0	0	0	0	0	0	1	2033	610	22	4		4	C1orf173	1	75038709	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	4534420	75038709	174211912	23	64884											
C1orf173	127254	broad.mit.edu	37	chr1	75039162	75039162	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgtttcatccaccatgaaAttcattgttggtgctataaa	11	15	7	8	0	2	1	2	1	0	0	3	1	3	1	2	1	1	4	2	1	4	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:75039162A>T	ENST00000326665.5	-	14	2450	c.2232T>A	c.(2230-2232)aaT>aaA	p.N744K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	744	Glu-rich.									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						CCACCATGAAATTCATTGTTG	0.368													6	110					0	0	0	0	T	75039162	A	T	75039162	3	4	345	1	0	0	0	0	1	0	0	0	2033	98	4	5	2364	5	C1orf173	1	75039162	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	453	75039162	174211459	24	64885											
FAM73A	374986	broad.mit.edu	37	chr1	78324662	78324662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacggcatacctacagcctgGagtccctttgtcactgccca	8	10	8	15	1	1	0	1	0	0	0	2	1	2	1	4	2	5	1	4	2	3	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:78324662G>A	ENST00000370791.3	+	9	1068	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	FAM73A_ENST00000443751.2_Missense_Mutation_p.E308K	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	346						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CTACAGCCTGGAGTCCCTTTG	0.448													5	77					0	0	0	0	A	78324662	G	A	78324662	3	1	345	1	0	0	0	0	1	0	0	0	5663	1175	41	2	1070	2	FAM73A	1	78324662	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3285500	78324662	170925959	25	64886											
LPHN2	23266	broad.mit.edu	37	chr1	82436123	82436123	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgaaagtgaatattcaagGaaaaaatattactatgttgc	17	14	7	3	0	1	2	1	2	0	0	1	3	1	3	0	1	2	1	0	1	10	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:82436123G>A	ENST00000370728.1	+	18	3492	c.2847G>A	c.(2845-2847)agG>agA	p.R949R	LPHN2_ENST00000370715.1_Silent_p.R936R|LPHN2_ENST00000370713.1_Silent_p.R936R|LPHN2_ENST00000370717.2_Silent_p.R949R|LPHN2_ENST00000370727.1_Silent_p.R949R|LPHN2_ENST00000271029.4_Silent_p.R949R|LPHN2_ENST00000370723.1_Silent_p.R936R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Silent_p.R936R|LPHN2_ENST00000335786.5_Silent_p.R949R|LPHN2_ENST00000370730.1_Silent_p.R949R|LPHN2_ENST00000394879.1_Silent_p.R936R|LPHN2_ENST00000319517.6_Silent_p.R936R|LPHN2_ENST00000370721.1_Silent_p.R874R|LPHN2_ENST00000370725.1_Silent_p.R949R			O95490	LPHN2_HUMAN	latrophilin 2	949					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATATTCAAGGAAAAAATATT	0.378													8	146					0	0	0	0	A	82436123	G	A	82436123	2	1	345	1	0	0	0	0	0	0	0	1	8980	1165	41	2		2	LPHN2	1	82436123	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	4111461	82436123	166814498	26	64887											
ABCA4	24	broad.mit.edu	37	chr1	94546075	94546075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agataggatccttccttgtgGagtcaatccccagaaaggcc	11	9	10	11	0	1	2	1	0	0	2	4	4	4	4	5	3	0	0	5	3	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:94546075G>A	ENST00000370225.3	-	8	1144	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	ABCA4_ENST00000535735.1_Missense_Mutation_p.S353F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	353					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTTCCTTGTGGAGTCAATCCC	0.453													8	160					0	0	0	0	A	94546075	G	A	94546075	3	1	345	1	0	0	0	0	1	0	0	0	34	1174	41	2	5935	2	ABCA4	1	94546075	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	12109952	94546075	154704546	27	64888											
LPPR4	9890	broad.mit.edu	37	chr1	99771917	99771917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaaacataagcacctcccCcaaaagcagctctgctcggg	13	5	9	14	1	1	0	0	0	1	0	3	1	2	1	3	2	5	4	3	2	5	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:99771917C>T	ENST00000370185.3	+	7	2140	c.1643C>T	c.(1642-1644)cCc>cTc	p.P548L	LPPR4_ENST00000457765.1_Missense_Mutation_p.P490L|LPPR4_ENST00000370184.1_Missense_Mutation_p.P390L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		548							phosphatidate phosphatase activity	p.P548L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCACCTCCCCCAAAAGCAGC	0.547													13	248					0	0	0	0	T	99771917	C	T	99771917	3	4	345	1	0	0	0	0	1	0	0	0	8991	623	22	4	1669	4	LPPR4	1	99771917	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5225842	99771917	149478704	28	64889											
OVGP1	5016	broad.mit.edu	37	chr1	111957747	111957747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctacagtgtgctttccaaggGatacagtttcctttgtaggg	8	14	11	8	0	0	0	0	0	0	0	2	1	2	1	2	2	3	3	2	2	4	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:111957747G>A	ENST00000369732.3	-	11	1431	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	459					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CTTTCCAAGGGATACAGTTTC	0.502													7	99					0	0	0	0	A	111957747	G	A	111957747	3	1	345	1	0	0	0	0	1	0	0	0	11396	1174	41	2	664	2	OVGP1	1	111957747	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	12185830	111957747	137292874	29	64890											
ITGA10	8515	broad.mit.edu	37	chr1	145533441	145533441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcttccatgcttttgcggGgtggacgccgcctgtttctc	2	16	11	12	3	2	0	0	0	2	0	4	1	3	1	3	3	2	2	3	3	0	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:145533441G>A	ENST00000369304.3	+	12	1499	c.1324G>A	c.(1324-1326)Ggt>Agt	p.G442S	ITGA10_ENST00000539363.1_Missense_Mutation_p.G299S|ITGA10_ENST00000538811.1_Missense_Mutation_p.G311S	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	442					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTTTTGCGGGGTGGACGCCG	0.517													11	158					0	0	0	0	A	145533441	G	A	145533441	3	1	345	1	0	0	0	0	1	0	0	0	7926	1232	43	4	1370	4	ITGA10	1	145533441	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	33575694	145533441	103717180	30	64891											
ZNF687	57592	broad.mit.edu	37	chr1	151263026	151263026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgggggaccaccttggctCggggttccagtgccagagcc	5	6	16	14	2	0	1	0	0	0	1	2	2	1	2	6	5	2	2	6	5	0	2	rs60042414	by1000genomes	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:151263026C>T	ENST00000368879.2	+	8	3355	c.3257C>T	c.(3256-3258)tCg>tTg	p.S1086L		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACCTTGGCTCGGGGTTCCAG	0.652													7	134					0	0	0	0	T	151263026	C	T	151263026	3	4	345	1	0	0	0	0	1	0	0	0	18187	875	31	1	3222	1	ZNF687	1	151263026	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5729585	151263026	97987595	31	64892											
HRNR	388697	broad.mit.edu	37	chr1	152192107	152192107	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagagtgcccaaaatcggaCccatgtcggccgcgactagg	11	5	13	12	4	0	1	0	0	0	1	2	4	0	2	3	3	1	0	3	3	4	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:152192107C>T	ENST00000368801.2	-	3	2073	c.1998G>A	c.(1996-1998)ggG>ggA	p.G666G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	666					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAAATCGGACCCATGTCGGC	0.597													15	274					0	0	0	0	T	152192107	C	T	152192107	2	4	345	1	0	0	0	0	0	0	0	1	7409	494	18	4		4	HRNR	1	152192107	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	929081	152192107	97058514	32	64893											
FLG	2312	broad.mit.edu	37	chr1	152285476	152285476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctcagagtcttctgagtgtCcctgactgtcactgtcctgg	5	14	10	12	0	4	3	2	2	3	1	7	3	6	3	2	1	0	0	2	1	0	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:152285476C>T	ENST00000368799.1	-	3	1921	c.1886G>A	c.(1885-1887)gGa>gAa	p.G629E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	629	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGAGTGTCCCTGACTGTC	0.567									Ichthyosis				17	391					0	0	0	0	T	152285476	C	T	152285476	3	4	345	1	0	0	0	0	1	0	0	0	5967	855	30	2	10303	2	FLG	1	152285476	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	93369	152285476	96965145	33	64894											
DENND4B	9909	broad.mit.edu	37	chr1	153912181	153912181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatgaagcggaggaaggctCcttggacttcgcgctccagc	8	7	13	13	3	0	1	0	1	0	0	3	4	2	4	3	4	2	2	3	4	2	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:153912181C>T	ENST00000361217.4	-	12	2121	c.1703G>A	c.(1702-1704)gGa>gAa	p.G568E		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	568	dDENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGGAAGGCTCCTTGGACTTC	0.632													5	114					0	0	0	0	T	153912181	C	T	153912181	3	4	345	1	0	0	0	0	1	0	0	0	4471	855	30	2	2855	2	DENND4B	1	153912181	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1626705	153912181	95338440	34	64895											
FCRL3	115352	broad.mit.edu	37	chr1	157667151	157667151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgggtctcacaggtcaggGtcatgggactcccctctatg	6	10	13	12	0	4	0	3	0	2	0	6	1	5	1	2	4	0	1	2	4	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:157667151G>A	ENST00000368184.3	-	6	914	c.623C>T	c.(622-624)aCc>aTc	p.T208I	FCRL3_ENST00000368186.5_Missense_Mutation_p.T208I|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	208	Ig-like C2-type 3.					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)					ACAGGTCAGGGTCATGGGACT	0.547													8	107					0	0	0	0	A	157667151	G	A	157667151	3	1	345	1	0	0	0	0	1	0	0	0	5841	1261	44	4	1621	4	FCRL3	1	157667151	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3754970	157667151	91583470	35	64896											
SPTA1	6708	broad.mit.edu	37	chr1	158641987	158641987	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttgtcaagtatttccatCtttggaaagaaggagataat	13	15	9	4	0	2	2	1	0	1	2	3	4	3	3	1	2	0	2	1	2	5	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:158641987C>T	ENST00000368148.3	-	11	1531		c.e11-1		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTATTTCCATCTTTGGAAAGA	0.358													4	42					0	0	0	0	T	158641987	C	T	158641987	5	4	345	1	0	0	0	0	0	0	1	0	15206	927	32	2	6077	2	SPTA1	1	158641987	Splice_Site	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	974836	158641987	90608634	36	64897											
SPTA1	6708	broad.mit.edu	37	chr1	158651380	158651380	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tactgctggaacttcagggcCcgcagcaactggtcaccctt	8	9	10	14	1	2	0	2	0	0	0	2	1	2	1	2	3	5	3	2	3	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:158651380C>T	ENST00000368148.3	-	4	648	c.468G>A	c.(466-468)cgG>cgA	p.R156R	SPTA1_ENST00000368147.3_Silent_p.R156R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	156					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTTCAGGGCCCGCAGCAACT	0.532													20	286					0	0	0	0	T	158651380	C	T	158651380	2	4	345	1	0	0	0	0	0	0	0	1	15206	610	22	4		4	SPTA1	1	158651380	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	9393	158651380	90599241	37	64898											
OR6N2	81442	broad.mit.edu	37	chr1	158746811	158746811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaagtgataagaattatGaaagcattaatggcaaagtc	20	9	9	3	0	0	4	0	2	0	2	1	4	0	4	0	1	1	2	0	1	8	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:158746811G>A	ENST00000339258.1	-	1	614	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TAAGAATTATGAAAGCATTAA	0.393													6	64					0	0	0	0	A	158746811	G	A	158746811	2	1	345	1	0	0	0	0	0	0	0	1	11278	1281	45	2		2	OR6N2	1	158746811	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	95431	158746811	90503810	38	64899											
LY9	4063	broad.mit.edu	37	chr1	160793529	160793529	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcactccatatgtcacGgaagttgagtctgtggttgg	7	12	12	10	2	3	1	2	1	1	0	4	2	4	2	2	3	0	2	2	3	2	3	rs41266935		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:160793529G>A	ENST00000263285.5	+	8	1803	c.1773G>A	c.(1771-1773)acG>acA	p.T591T	LY9_ENST00000341032.4_Silent_p.T457T|LY9_ENST00000368035.1_Silent_p.T229T|LY9_ENST00000368041.2_Silent_p.T461T|LY9_ENST00000368040.1_Silent_p.T229T	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	591					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATATGTCACGGAAGTTGAGT	0.517													11	253					0	0	0	0	A	160793529	G	A	160793529	2	1	345	1	0	0	0	0	0	0	0	1	9166	1103	39	1		1	LY9	1	160793529	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2046718	160793529	88457092	39	64900											
OLFML2B	25903	broad.mit.edu	37	chr1	161989809	161989809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacacaggcacacttgcacGacgagcctgaggtgatggtt	10	8	12	11	2	0	2	0	2	0	0	0	4	0	2	1	3	3	3	1	3	1	3	rs142774017		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:161989809G>A	ENST00000294794.3	-	2	761	c.338C>T	c.(337-339)tCg>tTg	p.S113L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.S113L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	113										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ACACTTGCACGACGAGCCTGA	0.617													5	94					0	0	0	0	A	161989809	G	A	161989809	3	1	345	1	0	0	0	0	1	0	0	0	10929	1059	37	1	1942	1	OLFML2B	1	161989809	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1196280	161989809	87260812	40	64901											
SELE	6401	broad.mit.edu	37	chr1	169697005	169697005	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgtaggtgaattctccaAtaggggaatgagcacacctc	12	10	10	9	0	1	2	0	2	1	0	3	3	1	3	2	3	1	2	2	3	5	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:169697005A>T	ENST00000333360.7	-	9	1482	c.1343T>A	c.(1342-1344)aTt>aAt	p.I448N	SELE_ENST00000367774.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.I385N|SELE_ENST00000367779.4_Intron|SELE_ENST00000367777.1_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.I323N|SELE_ENST00000367782.4_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.I385N|SELE_ENST00000367780.4_Missense_Mutation_p.I323N	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	448	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GAATTCTCCAATAGGGGAATG	0.493													12	150					0	0	0	0	T	169697005	A	T	169697005	3	4	345	1	0	0	0	0	1	0	0	0	14100	101	4	5	509	5	SELE	1	169697005	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	7707196	169697005	79553616	41	64902											
LHX4	89884	broad.mit.edu	37	chr1	180243576	180243576	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcatcattgcgcatgcaggGcagggagtaagccagacgct	10	6	15	10	2	1	1	1	0	0	1	1	2	1	2	1	3	3	6	1	3	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:180243576G>A	ENST00000263726.2	+	6	1279	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	345						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CGCATGCAGGGCAGGGAGTAA	0.567													14	387					0	0	0	0	A	180243576	G	A	180243576	2	1	345	1	0	0	0	0	0	0	0	1	8827	1190	42	4		4	LHX4	1	180243576	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	10546571	180243576	69007045	42	64903											
LAMC1	3915	broad.mit.edu	37	chr1	183079729	183079729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tagactgtgaaaagtgtcttCctttcttcaatgaccggccg	9	13	9	10	2	3	3	1	2	2	1	4	3	4	3	3	1	0	0	3	1	4	4	rs142614579	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:183079729C>T	ENST00000258341.4	+	4	1218	c.961C>T	c.(961-963)Cct>Tct	p.P321S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	321	Laminin EGF-like 1.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAGTGTCTTCCTTTCTTCAA	0.473													12	186					0	0	0	0	T	183079729	C	T	183079729	3	4	345	1	0	0	0	0	1	0	0	0	8667	855	30	2	975	2	LAMC1	1	183079729	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2836153	183079729	66170892	43	64904											
SMG7	9887	broad.mit.edu	37	chr1	183510184	183510184	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaggccagcaacgacgaaTacgacagcaacgcttgatct	15	5	10	11	4	1	2	0	1	1	1	1	5	1	2	1	1	5	3	1	1	5	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:183510184T>A	ENST00000367537.3	+	14	1643	c.1448T>A	c.(1447-1449)aTa>aAa	p.I483K	SMG7_ENST00000508461.1_Missense_Mutation_p.I412K|SMG7_ENST00000347615.2_Missense_Mutation_p.I454K|SMG7_ENST00000507469.1_Missense_Mutation_p.I454K|SMG7_ENST00000515829.2_Missense_Mutation_p.I454K|SMG7_ENST00000456731.2_Missense_Mutation_p.I412K			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	454					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CAACGACGAATACGACAGCAA	0.413													9	204					0	0	0	0	A	183510184	T	A	183510184	3	1	345	1	0	0	0	0	1	0	0	0	14886	1406	49	5	1411	5	SMG7	1	183510184	Missense_Mutation	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	430455	183510184	65740437	44	64905											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185267255	185267255	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaattcattgccatcgAatcctcccactgcataaatg	13	11	5	12	1	2	1	2	0	0	1	5	2	4	1	3	0	2	1	3	0	4	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:185267255A>C	ENST00000367498.3	-	15	2463	c.1841T>G	c.(1840-1842)tTc>tGc	p.F614C	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.F396C	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	614					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ATTGCCATCGAATCCTCCCAC	0.398													12	342					0	0	0	0	C	185267255	A	C	185267255	3	2	345	1	0	0	0	0	1	0	0	0	7983	246	9	5	91	5	IVNS1ABP	1	185267255	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	1757071	185267255	63983366	45	64906											
CFH	3075	broad.mit.edu	37	chr1	196697552	196697552	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaaaaaacaagaaggaattCgatcataattctaacataag	21	10	5	5	1	2	1	1	0	1	1	3	3	2	2	0	1	2	0	0	1	9	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:196697552C>T	ENST00000367429.4	+	15	2553	c.2313C>T	c.(2311-2313)ttC>ttT	p.F771F		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	771	Sushi 13.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGAAGGAATTCGATCATAATT	0.299													4	58					0	0	0	0	T	196697552	C	T	196697552	2	4	345	1	0	0	0	0	0	0	0	1	3312	883	31	1		1	CFH	1	196697552	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	11430297	196697552	52553069	46	64907											
ETNK2	55224	broad.mit.edu	37	chr1	204106278	204106278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagcctttgcacctccctgGgggtcacggccatccccttt	5	10	10	16	1	1	1	1	0	0	1	3	1	3	1	6	3	2	1	6	3	0	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:204106278G>A	ENST00000367199.2	-	5	1171	c.761C>T	c.(760-762)cCc>cTc	p.P254L	ETNK2_ENST00000367202.4_Missense_Mutation_p.P323L|ETNK2_ENST00000367197.1_Missense_Mutation_p.P5L|ETNK2_ENST00000367198.2_Missense_Mutation_p.P145L|ETNK2_ENST00000367201.3_Missense_Mutation_p.P323L			Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	323							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CACCTCCCTGGGGGTCACGGC	0.592													7	155					0	0	0	0	A	204106278	G	A	204106278	3	1	345	1	0	0	0	0	1	0	0	0	5312	1232	43	4	204	4	ETNK2	1	204106278	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	7408726	204106278	45144343	47	64908											
LRRN2	10446	broad.mit.edu	37	chr1	204587126	204587126	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagaaagcccaggctggaggGagaggccgcctcccacccac	10	2	13	16	1	0	2	0	0	0	2	1	4	1	3	5	4	1	1	5	4	1	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:204587126G>A	ENST00000367175.1	-	1	4207	c.1995C>T	c.(1993-1995)ctC>ctT	p.L665L	LRRN2_ENST00000367176.3_Silent_p.L665L|LRRN2_ENST00000367177.3_Silent_p.L665L			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	665					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGCTGGAGGGAGAGGCCGCC	0.662													6	98					0	0	0	0	A	204587126	G	A	204587126	2	1	345	1	0	0	0	0	0	0	0	1	9099	1161	41	2		2	LRRN2	1	204587126	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	480848	204587126	44663495	48	64909											
FAM72A	729533	broad.mit.edu	37	chr1	206145508	206145508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagttcctgtcttctttcCtgcaacaacggacacttctg	7	15	7	12	1	3	0	0	0	3	0	5	1	5	1	2	1	3	3	2	1	3	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:206145508C>T	ENST00000367128.3	+	3	1133	c.285C>T	c.(283-285)tcC>tcT	p.S95S	FAM72A_ENST00000470041.1_3'UTR|FAM72A_ENST00000367129.2_Silent_p.S95S|FAM72A_ENST00000341209.5_Silent_p.S55S			Q5TYM5	FA72A_HUMAN	family with sequence similarity 72, member A	95										endometrium(2)	2						GTCTTCTTTCCTGCAACAACG	0.388													21	426					0	0	0	0	T	206145508	C	T	206145508	2	4	345	1	0	0	0	0	0	0	0	1	5660	668	24	4		4	FAM72A	1	206145508	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1558382	206145508	43105113	49	64910											
IKBKE	9641	broad.mit.edu	37	chr1	206651635	206651635	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgtcgtccatgtcttctcCctgtcccaggcagtcctgca	4	13	9	15	1	2	0	0	0	2	0	7	0	5	0	4	1	1	3	4	1	0	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:206651635C>T	ENST00000367120.3	+	9	1318	c.945C>T	c.(943-945)tcC>tcT	p.S315S	IKBKE_ENST00000537984.1_Silent_p.S230S|IKBKE_ENST00000462698.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	315	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ATGTCTTCTCCCTGTCCCAGG	0.582													8	141					0	0	0	0	T	206651635	C	T	206651635	2	4	345	1	0	0	0	0	0	0	0	1	7665	610	22	4		4	IKBKE	1	206651635	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	506127	206651635	42598986	50	64911											
C4BPA	722	broad.mit.edu	37	chr1	207304950	207304950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaacatatcctaggccgAcaaaagaggatgtgtatgtt	14	9	12	6	1	0	1	0	0	0	1	1	4	1	3	2	3	1	2	2	3	6	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:207304950A>G	ENST00000367070.3	+	8	1143	c.949A>G	c.(949-951)Aca>Gca	p.T317A		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	317	Sushi 5.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCCTAGGCCGACAAAAGAGGA	0.423													5	69					0	0	0	0	G	207304950	A	G	207304950	3	3	345	1	0	0	0	0	1	0	0	0	2270	275	10	5	975	5	C4BPA	1	207304950	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	653315	207304950	41945671	51	64912											
PLXNA2	5362	broad.mit.edu	37	chr1	208215711	208215711	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgcccgtttccttgtaCctggggtggggtgtggtgga	2	13	17	9	1	0	0	0	0	0	0	1	1	1	1	3	6	3	3	3	6	1	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:208215711C>A	ENST00000367033.3	-	22	4775	c.4017_splice	c.e22-1	p.V1340_splice		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1340					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTTCCTTGTACCTGGGGTGGG	0.612													6	71					0.0215528	0.0215835	1	0	A	208215711	C	A	208215711	5	1	345	1	0	0	0	0	0	0	1	0	12192	521	18	4	1710	4	PLXNA2	1	208215711	Splice_Site	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	910761	208215711	41034910	52	64913											
MARK1	4139	broad.mit.edu	37	chr1	220823975	220823975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgaagaacaatgtgtattCtggaggtagcatggcaagaa	14	10	12	5	0	1	3	0	1	1	2	1	4	1	4	0	3	2	4	0	3	7	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:220823975C>T	ENST00000402574.1	+	14	2081	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F	MARK1_ENST00000366918.4_Missense_Mutation_p.S473F|MARK1_ENST00000366917.4_Missense_Mutation_p.S495F	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	495	UBA.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AATGTGTATTCTGGAGGTAGC	0.343													10	224					0	0	0	0	T	220823975	C	T	220823975	3	4	345	1	0	0	0	0	1	0	0	0	9381	913	32	2	1538	2	MARK1	1	220823975	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	12608264	220823975	28426646	53	64914											
FAM177B	400823	broad.mit.edu	37	chr1	222920367	222920367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttttttcagtctaaactttCctgggggccctacctacgat	7	15	7	12	1	2	0	1	0	1	0	3	1	3	0	3	2	3	0	3	2	4	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:222920367C>T	ENST00000445590.2	+	4	451	c.185C>T	c.(184-186)tCc>tTc	p.S62F	FAM177B_ENST00000360827.2_Missense_Mutation_p.S62F	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	62										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						TCTAAACTTTCCTGGGGGCCC	0.353													8	113					0	0	0	0	T	222920367	C	T	222920367	3	4	345	1	0	0	0	0	1	0	0	0	5543	855	30	2	191	2	FAM177B	1	222920367	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2096392	222920367	26330254	54	64915											
DISP1	84976	broad.mit.edu	37	chr1	223178808	223178808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcctaggaattttttcCtccacccagtgcagcacatt	8	13	6	14	0	1	0	0	0	1	0	3	1	3	1	4	1	3	2	4	1	2	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:223178808C>T	ENST00000284476.6	+	8	4233	c.4069C>T	c.(4069-4071)Ctc>Ttc	p.L1357F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1357					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GAATTTTTTCCTCCACCCAGT	0.512													4	74					0	0	0	0	T	223178808	C	T	223178808	3	4	345	1	0	0	0	0	1	0	0	0	4576	681	24	4	4095	4	DISP1	1	223178808	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	258441	223178808	26071813	55	64916											
CDC42BPA	8476	broad.mit.edu	37	chr1	227387341	227387341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatacatccctttcttcacGaaaacatgctgtctgaaaca	14	12	4	11	1	3	1	1	1	2	0	4	2	4	1	1	0	4	1	1	0	5	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:227387341G>A	ENST00000366769.3	-	4	1658	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R123C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R123C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	123	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R123C(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTTTCTTCACGAAAACATGCT	0.284													7	89					0	0	0	0	A	227387341	G	A	227387341	3	1	345	1	0	0	0	0	1	0	0	0	3101	1058	37	1	4924	1	CDC42BPA	1	227387341	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	4208533	227387341	21863280	56	64917											
OBSCN	84033	broad.mit.edu	37	chr1	228401943	228401943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acacggctatgttttgcgtgGagctggcggtcccggtgggc	4	10	17	10	4	0	0	0	0	0	0	1	1	1	1	1	6	2	3	1	6	1	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:228401943G>A	ENST00000570156.2	+	4	1401	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	OBSCN_ENST00000284548.11_Missense_Mutation_p.E443K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E443K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	443	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTTTGCGTGGAGCTGGCGGT	0.711													6	111					0	0	0	0	A	228401943	G	A	228401943	3	1	345	1	0	0	0	0	1	0	0	0	10883	1175	41	2	1337	2	OBSCN	1	228401943	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1014602	228401943	20848678	57	64918											
TRIM11	81559	broad.mit.edu	37	chr1	228584723	228584723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccataggcacaacttctgGgggctgcagcttcacatcct	8	10	9	14	0	2	0	1	0	1	0	4	0	4	0	2	3	3	4	2	3	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:228584723G>A	ENST00000493030.2	-	4	4118	c.409C>T	c.(409-411)Cca>Tca	p.P137S	TRIM11_ENST00000366699.3_Missense_Mutation_p.P262S|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Missense_Mutation_p.P262S			Q96F44	TRI11_HUMAN	tripartite motif containing 11	262					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				ACAACTTCTGGGGGCTGCAGC	0.652													8	75					0	0	0	0	A	228584723	G	A	228584723	3	1	345	1	0	0	0	0	1	0	0	0	16582	1232	43	4	630	4	TRIM11	1	228584723	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	182780	228584723	20665898	58	64919											
URB2	9816	broad.mit.edu	37	chr1	229772876	229772876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttgtcagtcagcagcttcCctggctttttgaaaaggacc	8	13	9	11	0	3	1	2	1	1	0	4	2	4	2	2	2	2	3	2	2	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:229772876C>T	ENST00000258243.2	+	4	2652	c.2516C>T	c.(2515-2517)cCc>cTc	p.P839L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	839						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAGCAGCTTCCCTGGCTTTTT	0.488													9	155					0	0	0	0	T	229772876	C	T	229772876	3	4	345	1	0	0	0	0	1	0	0	0	17121	623	22	4	2526	4	URB2	1	229772876	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1188153	229772876	19477745	59	64920											
HEATR1	55127	broad.mit.edu	37	chr1	236718728	236718728	+	Missense_Mutation	SNP	C	C	T																															gtaaaatgtcaacaacctgtCctttggggcatcttctgttt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:236718728C>T	ENST00000366582.3	-	41	5905	c.5791G>A	c.(5791-5793)Gac>Aac	p.D1931N	HEATR1_ENST00000366581.2_Missense_Mutation_p.D1850N	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1931					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACAACCTGTCCTTTGGGGCA	0.413													16	154					0	0	0	0	T	236718728	C	T	236718728	3	4	345	1	0	0	0	0	1	0	0	0	7077	855	30	2	663	2	HEATR1	1	236718728	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	6945852	236718728	12531893	60	64921	779	2									
HEATR1	55127	broad.mit.edu	37	chr1	236718729	236718729	+	Silent	SNP	C	C	T																															taaaatgtcaacaacctgtcCtttggggcatcttctgtttt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:236718729C>T	ENST00000366582.3	-	41	5904	c.5790G>A	c.(5788-5790)aaG>aaA	p.K1930K	HEATR1_ENST00000366581.2_Silent_p.K1849K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1930					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACAACCTGTCCTTTGGGGCAT	0.413													16	150					0	0	0	0	T	236718729	C	T	236718729	2	4	345	1	0	0	0	0	0	0	0	1	7077	680	24	4		4	HEATR1	1	236718729	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1	236718729	12531892	61	64922	779	2									
OR2T4	127074	broad.mit.edu	37	chr1	248525564	248525564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcagacacctcactctatGagattttcatgtacttgtgc	9	14	7	11	0	4	2	3	1	1	2	4	3	4	2	1	0	2	2	1	0	2	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:248525564G>A	ENST00000366475.1	+	1	682	c.682G>A	c.(682-684)Gag>Aag	p.E228K		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E228K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCACTCTATGAGATTTTCAT	0.478													9	230					0	0	0	0	A	248525564	G	A	248525564	3	1	345	1	0	0	0	0	1	0	0	0	11098	1291	45	2	684	2	OR2T4	1	248525564	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	11806835	248525564	725057	62	64923											
OR2T6	254879	broad.mit.edu	37	chr1	248551746	248551746	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctctgccttttatacCatcctcacacccttattaaa	9	16	2	14	0	3	0	1	0	2	0	5	0	4	0	4	0	2	0	4	0	5	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:248551746C>T	ENST00000355728.2	+	1	837	c.837C>T	c.(835-837)acC>acT	p.T279T		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTTTTATACCATCCTCACAC	0.468													8	84					0	0	0	0	T	248551746	C	T	248551746	2	4	345	1	0	0	0	0	0	0	0	1	11100	581	21	4		4	OR2T6	1	248551746	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	26182	248551746	698875	63	64924											
OR2T1	26696	broad.mit.edu	37	chr1	248569508	248569508	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggggctgttcaacagaaaGgaaacctcaggtcttatttt	12	12	10	7	0	3	1	2	0	1	1	3	2	3	2	1	4	2	2	1	4	4	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:248569508G>A	ENST00000366474.1	+	1	213	c.213G>A	c.(211-213)aaG>aaA	p.K71K		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAACAGAAAGGAAACCTCAG	0.428													9	202					0	0	0	0	A	248569508	G	A	248569508	2	1	345	1	0	0	0	0	0	0	0	1	11087	991	35	4		4	OR2T1	1	248569508	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	17762	248569508	681113	64	64925											
OR2T1	26696	broad.mit.edu	37	chr1	248569860	248569860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgtcctcatgagccgcCgggtctgttggatgattata	7	12	11	11	2	2	2	1	2	1	0	3	3	3	3	4	2	1	1	4	2	2	3	rs140525966		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr1:248569860C>T	ENST00000366474.1	+	1	565	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGAGCCGCCGGGTCTGTTG	0.547													7	114					0	0	0	0	T	248569860	C	T	248569860	3	4	345	1	0	0	0	0	1	0	0	0	11087	643	23	1	567	1	OR2T1	1	248569860	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	352	248569860	680761	65	64926											
PXDN	7837	broad.mit.edu	37	chr2	1677502	1677502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactggtagataccctggtCtgtctcctgtgtgttctgga	5	14	12	10	0	3	1	0	0	3	1	4	2	3	2	2	3	1	3	2	3	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:1677502C>T	ENST00000252804.4	-	9	981	c.931G>A	c.(931-933)Gac>Aac	p.D311N	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	311	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATACCCTGGTCTGTCTCCTGT	0.527													9	186					0	0	0	0	T	1677502	C	T	1677502	3	4	345	1	0	0	0	0	1	0	0	0	12929	913	32	2	3568	2	PXDN	2	1677502	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08		1677502	241521871	66	64927											
XDH	7498	broad.mit.edu	37	chr2	31598411	31598411	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcctgcagcagctcctcCttccagagcctgccagagag	8	7	10	16	1	0	2	0	0	0	2	4	3	4	2	6	0	5	3	6	0	0	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:31598411C>T	ENST00000379416.3	-	15	1485	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	479					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCAGCTCCTCCTTCCAGAGCC	0.667													4	62					0	0	0	0	T	31598411	C	T	31598411	2	4	345	1	0	0	0	0	0	0	0	1	17522	680	24	4		4	XDH	2	31598411	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	29920909	31598411	211600962	67	64928											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48896892	48896892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtggatttaagcattcGggttactgatgatgatattg	10	15	12	4	1	1	3	1	3	0	0	2	4	1	4	0	3	2	2	0	3	3	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:48896892G>A	ENST00000394754.1	+	9	3236	c.3122G>A	c.(3121-3123)cGg>cAg	p.R1041Q	GTF2A1L_ENST00000403751.3_Missense_Mutation_p.R337Q|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R1041Q|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R994Q|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R1041Q|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.R303Q|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R1041Q	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		994					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.R1041Q(1)|p.R1041L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTAAGCATTCGGGTTACTGAT	0.308													9	190					0	0	0	0	A	48896892	G	A	48896892	3	1	345	1	0	0	0	0	1	0	0	0	15407	1116	39	1	3152	1	STON1-GTF2A1L	2	48896892	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	17298481	48896892	194302481	68	64929											
SPTBN1	6711	broad.mit.edu	37	chr2	54859746	54859746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatgcctaccaccttggaagGagctgaagcagcaattaaaa	16	7	9	9	0	0	1	0	1	0	0	0	3	0	3	3	2	5	3	3	2	7	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:54859746G>A	ENST00000333896.5	+	16	3954	c.3569G>A	c.(3568-3570)gGa>gAa	p.G1190E	SPTBN1_ENST00000356805.4_Missense_Mutation_p.G1203E	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1203					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCTTGGAAGGAGCTGAAGCA	0.458													7	104					0	0	0	0	A	54859746	G	A	54859746	3	1	345	1	0	0	0	0	1	0	0	0	15209	1174	41	2	3783	2	SPTBN1	2	54859746	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	5962854	54859746	188339627	69	64930											
USP34	9736	broad.mit.edu	37	chr2	61508292	61508292	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaggcagccaatagcagaAaagaacgattgattgagtct	15	9	11	6	1	1	5	0	3	1	2	1	6	1	5	1	1	3	2	1	1	5	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:61508292A>G	ENST00000398571.2	-	38	5160	c.5084T>C	c.(5083-5085)tTt>tCt	p.F1695S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1695					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAATAGCAGAAAAGAACGATT	0.398													4	37					0	0	0	0	G	61508292	A	G	61508292	3	3	345	1	0	0	0	0	1	0	0	0	17161	14	1	5	5728	5	USP34	2	61508292	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	6648546	61508292	181691081	70	64931											
PLEK	5341	broad.mit.edu	37	chr2	68607875	68607875	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtgtttaagatcactacGaccaaacagcaggaccactt	13	11	7	10	1	1	1	1	0	0	1	1	3	1	2	2	1	3	2	2	1	3	5	rs148878592		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:68607875G>A	ENST00000234313.7	+	3	398	c.219G>A	c.(217-219)acG>acA	p.T73T		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	73	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGATCACTACGACCAAACAGC	0.488													11	163					0	0	0	0	A	68607875	G	A	68607875	2	1	345	1	0	0	0	0	0	0	0	1	12125	1045	37	1		1	PLEK	2	68607875	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	7099583	68607875	174591498	71	64932											
GKN2	200504	broad.mit.edu	37	chr2	69173532	69173532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatccacgtctttgatcaGagactccagagggttgtact	10	11	9	11	1	2	3	1	1	1	2	4	4	4	3	3	1	1	2	3	1	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:69173532G>A	ENST00000481498.1	-	5	394	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L	GKN2_ENST00000328895.4_Silent_p.L126L			Q86XP6	GKN2_HUMAN	gastrokine 2	126	BRICHOS.					extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						TCTTTGATCAGAGACTCCAGA	0.428													12	224					0	0	0	0	A	69173532	G	A	69173532	2	1	345	1	0	0	0	0	0	0	0	1	6476	933	33	2		2	GKN2	2	69173532	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	565657	69173532	174025841	72	64933											
SLC4A5	57835	broad.mit.edu	37	chr2	74466495	74466495	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcggctgaatttgaacttCttcagggtcagggtcatgga	9	12	13	7	1	4	2	3	2	1	0	4	3	4	3	0	4	2	1	0	4	3	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:74466495C>T	ENST00000394019.2	-	21	2683	c.2286G>A	c.(2284-2286)aaG>aaA	p.K762K	SLC4A5_ENST00000377632.1_Silent_p.K762K|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Silent_p.K698K|SLC4A5_ENST00000358683.4_Silent_p.K698K|SLC4A5_ENST00000357822.5_Silent_p.K762K|SLC4A5_ENST00000346834.4_Silent_p.K762K|SLC4A5_ENST00000423644.1_Silent_p.K762K|SLC4A5_ENST00000377634.4_Silent_p.K762K|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	762						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATTTGAACTTCTTCAGGGTCA	0.537													6	74					0	0	0	0	T	74466495	C	T	74466495	2	4	345	1	0	0	0	0	0	0	0	1	14745	912	32	2		2	SLC4A5	2	74466495	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5292963	74466495	168732878	73	64934											
DCTN1	1639	broad.mit.edu	37	chr2	74598189	74598189	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcacctgctccagctGgattttgtgtttctccagct	4	16	8	13	0	1	0	0	0	1	0	4	1	3	1	4	1	4	5	4	1	0	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:74598189G>A	ENST00000361874.3	-	9	1077	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	DCTN1_ENST00000409868.1_Nonsense_Mutation_p.Q237*|DCTN1_ENST00000407639.2_Nonsense_Mutation_p.Q120*|DCTN1_ENST00000409567.3_Nonsense_Mutation_p.Q234*|DCTN1_ENST00000394003.3_Nonsense_Mutation_p.Q247*|DCTN1_ENST00000409240.1_Nonsense_Mutation_p.Q217*|DCTN1_ENST00000409438.1_Nonsense_Mutation_p.Q120*	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	254					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGCTCCAGCTGGATTTTGTGT	0.542													24	470					0	0	0	0	A	74598189	G	A	74598189	4	1	345	1	0	0	0	0	0	1	0	0	4338	1357	47	4	3172	4	DCTN1	2	74598189	Nonsense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	131694	74598189	168601184	74	64935											
LRRTM4	80059	broad.mit.edu	37	chr2	77746581	77746581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttattgtaggagaggtcCagattgcggagattgggaac	11	10	15	5	1	0	3	0	0	0	3	1	6	1	4	1	4	3	2	1	4	3	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:77746581C>T	ENST00000409088.3	-	3	828	c.414G>A	c.(412-414)ctG>ctA	p.L138L	LRRTM4_ENST00000409884.1_Silent_p.L138L|LRRTM4_ENST00000409093.1_Silent_p.L138L|LRRTM4_ENST00000409282.1_Silent_p.L139L|LRRTM4_ENST00000409911.1_Silent_p.L139L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	138						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGGAGAGGTCCAGATTGCGGA	0.383													5	86					0	0	0	0	T	77746581	C	T	77746581	2	4	345	1	0	0	0	0	0	0	0	1	9106	581	21	4		4	LRRTM4	2	77746581	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3148392	77746581	165452792	75	64936											
CTNNA2	1496	broad.mit.edu	37	chr2	80136798	80136798	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaggctggagagcatcAtcagcggcgcagcgctgatg	10	5	17	9	3	2	3	2	1	0	2	2	5	2	3	0	4	3	4	0	4	0	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:80136798A>C	ENST00000466387.1	+	11	1655	c.931A>C	c.(931-933)Atc>Ctc	p.I311L	CTNNA2_ENST00000361291.4_Missense_Mutation_p.I345L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.I311L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.I311L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.I311L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.I311L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	311					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGAGAGCATCATCAGCGGCGC	0.632													7	136					0	0	0	0	C	80136798	A	C	80136798	3	2	345	1	0	0	0	0	1	0	0	0	4045	217	8	5		5	CTNNA2	2	80136798	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	2390217	80136798	163062575	76	64937											
CD8B	926	broad.mit.edu	37	chr2	87042814	87042814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcattgggggacaaaGgttcctgatataccttcccc	9	10	11	11	0	0	1	0	1	0	0	2	2	2	2	4	4	2	3	4	4	3	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:87042814G>A	ENST00000393761.2	-	4	579	c.521C>T	c.(520-522)cCt>cTt	p.P174L	CD8B_ENST00000331469.2_Silent_p.T216T|CD8B_ENST00000393759.2_3'UTR|CD8B_ENST00000349455.3_Silent_p.T186T	NM_001178100.1	NP_001171571.1	P10966	CD8B_HUMAN	CD8b molecule	0					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GGGGGACAAAGGTTCCTGATA	0.433													24	385					0	0	0	0	A	87042814	G	A	87042814	3	1	345	1	0	0	0	0	1	0	0	0	3074	1000	35	4	87	4	CD8B	2	87042814	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	6906016	87042814	156156559	77	64938											
ST6GAL2	84620	broad.mit.edu	37	chr2	107423211	107423211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaccaccttgcccttgcGatgcaaatccccctgcgtgc	9	8	8	16	2	0	1	0	0	0	1	1	2	1	1	5	0	6	1	5	0	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:107423211G>A	ENST00000409382.3	-	6	2123	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R505C	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	505					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						TTGCCCTTGCGATGCAAATCC	0.577													5	114					0	0	0	0	A	107423211	G	A	107423211	3	1	345	1	0	0	0	0	1	0	0	0	15312	1058	37	1	80	1	ST6GAL2	2	107423211	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	20380397	107423211	135776162	78	64939											
SULT1C3	442038	broad.mit.edu	37	chr2	108872055	108872055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtggccagaaatcccaagGattgcctggtgtcctactac	10	10	10	11	0	0	1	0	0	0	1	2	2	2	2	4	3	3	0	4	3	4	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:108872055G>A	ENST00000329106.2	+	4	427	c.427G>A	c.(427-429)Gat>Aat	p.D143N	SULT1C3_ENST00000376700.1_Missense_Mutation_p.D143N	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	143						cytoplasm	alcohol sulfotransferase activity	p.D143N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAATCCCAAGGATTGCCTGGT	0.428													8	135					0	0	0	0	A	108872055	G	A	108872055	3	1	345	1	0	0	0	0	1	0	0	0	15468	1174	41	2	441	2	SULT1C3	2	108872055	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1448844	108872055	134327318	79	64940											
CNTNAP5	129684	broad.mit.edu	37	chr2	125671691	125671691	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatagcagtggtgatattCatcatcttctgtatcatcgg	9	15	10	7	1	5	2	3	2	2	0	6	2	5	2	0	2	1	2	0	2	3	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:125671691C>T	ENST00000431078.1	+	24	4111	c.3747C>T	c.(3745-3747)ttC>ttT	p.F1249F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1249					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGTGATATTCATCATCTTCT	0.478													6	146					0	0	0	0	T	125671691	C	T	125671691	2	4	345	1	0	0	0	0	0	0	0	1	3680	825	29	2		2	CNTNAP5	2	125671691	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	16799636	125671691	117527682	80	64941											
LCT	3938	broad.mit.edu	37	chr2	136566587	136566587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgctcctgcctgtatttCtcatcgtacgtgtgatagac	6	16	8	11	2	2	2	1	1	2	1	5	2	3	2	2	0	3	3	2	0	3	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:136566587C>T	ENST00000264162.2	-	8	3340	c.3330G>A	c.(3328-3330)gaG>gaA	p.E1110E		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1110	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCCTGTATTTCTCATCGTACG	0.587													9	110					0	0	0	0	T	136566587	C	T	136566587	2	4	345	1	0	0	0	0	0	0	0	1	8746	912	32	2		2	LCT	2	136566587	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	10894896	136566587	106632786	81	64942											
DARS	1615	broad.mit.edu	37	chr2	136736889	136736889	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgtacccaaacaacttCatcagctttttgtattgtca	11	14	5	11	1	3	0	3	0	0	0	3	0	3	0	1	0	5	4	1	0	4	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:136736889C>A	ENST00000264161.4	-	3	387	c.172G>T	c.(172-174)Gaa>Taa	p.E58*	DARS_ENST00000537273.1_5'UTR|DARS_ENST00000463008.1_5'UTR	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	58					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CAAACAACTTCATCAGCTTTT	0.333													10	168					5.16669e-11	5.29491e-11	1	0	A	136736889	C	A	136736889	4	1	345	1	0	0	0	0	0	1	0	0	4274	835	29	2	1389	2	DARS	2	136736889	Nonsense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	170302	136736889	106462484	82	64943											
GPD2	2820	broad.mit.edu	37	chr2	157352593	157352593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaagcagcagactgcatttCagaaccagttaacagggagc	15	7	10	9	0	1	2	1	0	0	2	1	3	1	3	1	1	6	4	1	1	4	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:157352593C>T	ENST00000310454.6	+	3	512	c.140C>T	c.(139-141)tCa>tTa	p.S47L	GPD2_ENST00000540309.1_Missense_Mutation_p.S47L|GPD2_ENST00000409125.4_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.S47L|GPD2_ENST00000409674.1_Missense_Mutation_p.S47L	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	47					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GACTGCATTTCAGAACCAGTT	0.398													4	59					0	0	0	0	T	157352593	C	T	157352593	3	4	345	1	0	0	0	0	1	0	0	0	6655	838	29	2	146	2	GPD2	2	157352593	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	20615704	157352593	85846780	83	64944											
SCN7A	6332	broad.mit.edu	37	chr2	167262388	167262388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacatcttgacccataactCtctttgtaaaagcaagtaag	14	12	5	10	0	3	1	1	1	2	0	4	1	3	1	1	0	2	3	1	0	5	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:167262388C>T	ENST00000409855.1	-	25	4877	c.4751G>A	c.(4750-4752)aGa>aAa	p.R1584K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1584					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1584I(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACCCATAACTCTCTTTGTAAA	0.428													17	241					0	0	0	0	T	167262388	C	T	167262388	3	4	345	1	0	0	0	0	1	0	0	0	14010	913	32	2	301	2	SCN7A	2	167262388	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	9909795	167262388	75936985	84	64945											
LRP2	4036	broad.mit.edu	37	chr2	170103335	170103335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaataagccacactgctCtgtgggtggttcattggttg	9	12	13	7	0	2	0	1	0	1	0	2	1	2	1	1	4	2	3	1	4	3	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:170103335C>T	ENST00000263816.3	-	21	3355	c.3070G>A	c.(3070-3072)Gag>Aag	p.E1024K	LRP2_ENST00000443831.1_Missense_Mutation_p.E887K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1024	LDL-receptor class A 8.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCACACTGCTCTGTGGGTGGT	0.488													8	138					0	0	0	0	T	170103335	C	T	170103335	3	4	345	1	0	0	0	0	1	0	0	0	9020	922	32	2	11133	2	LRP2	2	170103335	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2840947	170103335	73096038	85	64946											
PDE11A	50940	broad.mit.edu	37	chr2	178494258	178494258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagctactgaatctagcatCggcttcagtttcacgttgac	9	13	9	10	2	3	2	2	2	1	0	4	2	3	2	0	1	3	6	0	1	4	6	rs79512110	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:178494258C>T	ENST00000286063.5	-	20	2996	c.2679G>A	c.(2677-2679)ccG>ccA	p.P893P	PDE11A_ENST00000358450.4_Silent_p.P643P|PDE11A_ENST00000449286.2_Silent_p.P535P|PDE11A_ENST00000450799.2_Silent_p.P84P|PDE11A_ENST00000389683.3_Silent_p.P449P|PDE11A_ENST00000409504.1_Silent_p.P535P	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	893	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AATCTAGCATCGGCTTCAGTT	0.463									Primary Pigmented Nodular Adrenocortical Disease, Familial				10	151					0	0	0	0	T	178494258	C	T	178494258	2	4	345	1	0	0	0	0	0	0	0	1	11702	871	31	1		1	PDE11A	2	178494258	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	8390923	178494258	64705115	86	64947											
TTN	7273	broad.mit.edu	37	chr2	179528420	179528420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttttcaggaactacttCtttgggaggctctggtactt	6	18	9	8	0	4	0	1	0	3	0	4	2	4	2	0	4	3	2	0	4	3	8			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:179528420C>T	ENST00000589042.1	-	171	36690	c.36466G>A	c.(36466-36468)Gaa>Aaa	p.E12156K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10305	Ig-like 81.						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)			GGAACTACTTCTTTGGGAGGC	0.388													11	307					0	0	0	0	T	179528420	C	T	179528420	3	4	345	1	0	0	0	0	1	0	0	0	16831	928	32	2		2	TTN	2	179528420	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1034162	179528420	63670953	87	64948											
TTN	7273	broad.mit.edu	37	chr2	179584052	179584052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcccactaacaatctcatttCcatcctgaaaccagccaact	13	9	3	16	0	1	1	1	1	1	0	4	1	3	1	5	0	4	0	5	0	4	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:179584052C>T	ENST00000589042.1	-	83	24289	c.24065G>A	c.(24064-24066)gGa>gAa	p.G8022E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6778E|TTN_ENST00000591111.1_Missense_Mutation_p.G7705E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7705	Ig-like 62.						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)			AATCTCATTTCCATCCTGAAA	0.512													16	186					0	0	0	0	T	179584052	C	T	179584052	3	4	345	1	0	0	0	0	1	0	0	0	16831	855	30	2	80584	2	TTN	2	179584052	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	55632	179584052	63615321	88	64949											
TTN	7273	broad.mit.edu	37	chr2	179595883	179595883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaagtggctgggtctcCttgggtgacatctatagaca	9	11	12	9	0	2	2	0	1	2	1	3	2	2	2	1	3	1	2	1	3	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:179595883C>T	ENST00000589042.1	-	60	17733	c.17509G>A	c.(17509-17511)Gga>Aga	p.G5837R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G4593R|TTN_ENST00000591111.1_Missense_Mutation_p.G5520R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5520	Ig-like 39.						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)			GCTGGGTCTCCTTGGGTGACA	0.448													15	242					0	0	0	0	T	179595883	C	T	179595883	3	4	345	1	0	0	0	0	1	0	0	0	16831	690	24	4	87232	4	TTN	2	179595883	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	11831	179595883	63603490	89	64950											
ZNF804A	91752	broad.mit.edu	37	chr2	185801657	185801657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaggactcactgattatGaaattggaagtagcaaaaat	18	9	9	5	0	1	3	1	2	0	1	1	5	1	5	0	2	1	2	0	2	7	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:185801657G>A	ENST00000302277.6	+	4	2128	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	512						intracellular	zinc ion binding	p.E512K(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CACTGATTATGAAATTGGAAG	0.388													9	157					0	0	0	0	A	185801657	G	A	185801657	3	1	345	1	0	0	0	0	1	0	0	0	18263	1291	45	2	1548	2	ZNF804A	2	185801657	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	6205774	185801657	57397716	90	64951											
DNAH7	56171	broad.mit.edu	37	chr2	196729521	196729521	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagattatccacatctgcGatttctctgtagttggtatc	9	15	8	9	2	2	1	0	0	2	1	5	3	3	1	1	1	1	3	1	1	4	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:196729521G>T	ENST00000312428.6	-	41	6958	c.6858C>A	c.(6856-6858)atC>atA	p.I2286I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2286					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCACATCTGCGATTTCTCTGT	0.378													15	245					1.3612e-06	1.38287e-06	1	0	T	196729521	G	T	196729521	2	4	345	1	0	0	0	0	0	0	0	1	4642	1048	37	3		3	DNAH7	2	196729521	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	10927864	196729521	46469852	91	64952											
CASP8	841	broad.mit.edu	37	chr2	202149916	202149916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctcaaacgagatatatcCcggatgaggctgactttctg	11	10	9	11	2	2	3	1	2	1	1	3	5	3	4	2	2	1	1	2	2	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:202149916C>T	ENST00000358485.4	+	8	1553	c.1357C>T	c.(1357-1359)Ccg>Tcg	p.P453S	CASP8_ENST00000432109.2_Missense_Mutation_p.P394S|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.P310S|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.P411S|CASP8_ENST00000323492.7_Missense_Mutation_p.P379S	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	394					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAGATATATCCCGGATGAGGC	0.468										HNSCC(4;0.00038)			6	82					0	0	0	0	T	202149916	C	T	202149916	3	4	345	1	0	0	0	0	1	0	0	0	2702	623	22	4	1487	4	CASP8	2	202149916	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5420395	202149916	41049457	92	64953											
ALS2CR12	130540	broad.mit.edu	37	chr2	202153458	202153458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatagaggccaatctccCagaacatccttcacaaattt	15	10	5	11	0	2	2	1	0	1	2	4	2	3	2	3	1	1	1	3	1	5	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:202153458C>T	ENST00000405148.2	-	15	1701	c.1258G>A	c.(1258-1260)Ggg>Agg	p.G420R	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.G397R|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.G397R|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.G420R	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	420					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GCCAATCTCCCAGAACATCCT	0.353													9	85					0	0	0	0	T	202153458	C	T	202153458	3	4	345	1	0	0	0	0	1	0	0	0	553	594	21	4	83	4	ALS2CR12	2	202153458	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3542	202153458	41045915	93	64954											
PIKFYVE	200576	broad.mit.edu	37	chr2	209203266	209203266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatctccacggaatatttCtccaggacttcagaatggag	11	11	9	10	1	3	1	1	0	2	1	5	4	3	4	2	3	1	1	2	3	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:209203266C>T	ENST00000264380.4	+	29	4804	c.4646C>T	c.(4645-4647)tCt>tTt	p.S1549F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1549					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CGGAATATTTCTCCAGGACTT	0.323													4	48					0	0	0	0	T	209203266	C	T	209203266	3	4	345	1	0	0	0	0	1	0	0	0	11996	913	32	2	4767	2	PIKFYVE	2	209203266	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	7049808	209203266	33996107	94	64955											
ACADL	33	broad.mit.edu	37	chr2	211085508	211085508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagtttctagacgttcttcCcctccggaatgagaacatct	9	12	9	11	2	3	2	0	1	3	2	5	5	5	4	3	2	1	2	3	2	3	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:211085508C>T	ENST00000233710.3	-	2	323	c.96G>A	c.(94-96)ggG>ggA	p.G32G	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	32					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		GACGTTCTTCCCCTCCGGAAT	0.348													3	32					0	0	0	0	T	211085508	C	T	211085508	2	4	345	1	0	0	0	0	0	0	0	1	112	610	22	4		4	ACADL	2	211085508	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1882242	211085508	32113865	95	64956											
CCDC108	255101	broad.mit.edu	37	chr2	219903262	219903262	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggtgagcatcatgtcCttgggacacagtccaaaggg	9	8	14	10	0	1	1	1	1	0	0	3	2	3	2	3	3	1	1	3	3	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:219903262C>T	ENST00000341552.5	-	4	275	c.192G>A	c.(190-192)aaG>aaA	p.K64K	CCDC108_ENST00000410037.1_5'UTR|CCDC108_ENST00000409865.3_Silent_p.K53K|CCDC108_ENST00000295729.2_5'UTR|CCDC108_ENST00000453220.1_Silent_p.K64K|CCDC108_ENST00000441968.1_Silent_p.K64K|CCDC108_ENST00000324264.6_5'UTR	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	64						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCATCATGTCCTTGGGACACA	0.582													4	37					0	0	0	0	T	219903262	C	T	219903262	2	4	345	1	0	0	0	0	0	0	0	1	2768	680	24	4		4	CCDC108	2	219903262	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	8817754	219903262	23296111	96	64957											
FARSB	10056	broad.mit.edu	37	chr2	223478647	223478647	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaagggtagtgcgtgccaCctacaggaaaagacatgaaa	17	5	12	7	1	0	3	0	1	0	2	0	4	0	4	2	2	3	1	2	2	7	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:223478647C>T	ENST00000281828.6	-	15	1608	c.1344_splice	c.e15-1	p.V449_splice	FARSB_ENST00000536361.1_Splice_Site_p.V350_splice	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	449					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GTGCGTGCCACCTACAGGAAA	0.443													4	77					0	0	0	0	T	223478647	C	T	223478647	5	4	345	1	0	0	0	0	0	0	1	0	5725	521	18	4	436	4	FARSB	2	223478647	Splice_Site	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3575385	223478647	19720726	97	64958											
SLC16A14	151473	broad.mit.edu	37	chr2	230911030	230911030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatgttcttcctgtgcccgGcctgatcggggcactcctgg	4	11	12	14	2	1	1	0	1	1	0	4	1	3	1	4	4	1	2	4	4	0	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:230911030G>A	ENST00000295190.4	-	4	1270	c.812C>T	c.(811-813)gCc>gTc	p.A271V		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	271						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CCTGTGCCCGGCCTGATCGGG	0.587													11	169					0	0	0	0	A	230911030	G	A	230911030	3	1	345	1	0	0	0	0	1	0	0	0	14495	1203	42	4	728	4	SLC16A14	2	230911030	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	7432383	230911030	12288343	98	64959											
NMUR1	10316	broad.mit.edu	37	chr2	232393153	232393153	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcaggctggtgttgggcagGgagcagagcatggcaagacc	9	6	18	8	0	0	2	0	0	0	2	0	3	0	3	1	5	3	7	1	5	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:232393153G>A	ENST00000305141.4	-	2	712	c.579C>T	c.(577-579)tcC>tcT	p.S193S		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	193					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TGTTGGGCAGGGAGCAGAGCA	0.697													4	53					0	0	0	0	A	232393153	G	A	232393153	2	1	345	1	0	0	0	0	0	0	0	1	10576	1219	43	4		4	NMUR1	2	232393153	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1482123	232393153	10806220	99	64960											
TRPM8	79054	broad.mit.edu	37	chr2	234878916	234878916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggcgttcttcacctcccCcttcgtggtcttctcctgga	2	15	9	15	2	4	0	1	0	3	0	7	1	5	1	4	3	0	1	4	3	0	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:234878916C>T	ENST00000324695.4	+	17	2241	c.2201C>T	c.(2200-2202)cCc>cTc	p.P734L	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	734						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TTCACCTCCCCCTTCGTGGTC	0.542													16	344					0	0	0	0	T	234878916	C	T	234878916	3	4	345	1	0	0	0	0	1	0	0	0	16687	623	22	4	2263	4	TRPM8	2	234878916	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2485763	234878916	8320457	100	64961											
COL6A3	1293	broad.mit.edu	37	chr2	238303583	238303583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttatgtattctaatccttttCcagtctgattggttccccca	7	18	5	11	0	2	1	0	1	2	0	5	1	5	1	4	1	0	2	4	1	3	8			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:238303583C>T	ENST00000295550.4	-	3	808	c.356G>A	c.(355-357)gGa>gAa	p.G119E	COL6A3_ENST00000347401.3_Missense_Mutation_p.G119E|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.G119E|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	119	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TAATCCTTTTCCAGTCTGATT	0.448													6	131					0	0	0	0	T	238303583	C	T	238303583	3	4	345	1	0	0	0	0	1	0	0	0	3731	855	30	2	9392	2	COL6A3	2	238303583	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3424667	238303583	4895790	101	64962											
MLPH	79083	broad.mit.edu	37	chr2	238434337	238434337	+	Missense_Mutation	SNP	C	C	A																															gggcctctgggtgccactccCatccggaagagcagccgacc																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:238434337C>A	ENST00000264605.3	+	7	1063	c.769C>A	c.(769-771)Cat>Aat	p.H257N	MLPH_ENST00000338530.4_Missense_Mutation_p.H257N|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Missense_Mutation_p.H217N|MLPH_ENST00000445024.2_Missense_Mutation_p.H257N|MLPH_ENST00000410032.1_Intron	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	257							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GTGCCACTCCCATCCGGAAGA	0.652													5	69					5.9392e-07	6.05126e-07	1	0	A	238434337	C	A	238434337	3	1	345	1	0	0	0	0	1	0	0	0	9702	594	21	4	791	4	MLPH	2	238434337	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	130754	238434337	4765036	102	64963	780	2									
MLPH	79083	broad.mit.edu	37	chr2	238434338	238434338	+	Missense_Mutation	SNP	A	A	T																															ggcctctgggtgccactcccAtccggaagagcagccgacca																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr2:238434338A>T	ENST00000264605.3	+	7	1064	c.770A>T	c.(769-771)cAt>cTt	p.H257L	MLPH_ENST00000338530.4_Missense_Mutation_p.H257L|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Missense_Mutation_p.H217L|MLPH_ENST00000445024.2_Missense_Mutation_p.H257L|MLPH_ENST00000410032.1_Intron	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	257							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TGCCACTCCCATCCGGAAGAG	0.652													5	69					0	0	0	0	T	238434338	A	T	238434338	3	4	345	1	0	0	0	0	1	0	0	0	9702	217	8	5	792	5	MLPH	2	238434338	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	1	238434338	4765035	103	64964	780	2									
SLC6A1	6529	broad.mit.edu	37	chr3	11059022	11059022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagaaggcggcagacctccCcgaccgggacacgtggaagg	11	2	16	12	4	0	2	0	0	0	2	1	6	1	4	4	5	0	1	4	5	3	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:11059022C>T	ENST00000287766.4	+	3	546	c.125C>T	c.(124-126)cCc>cTc	p.P42L	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron|SLC6A1_ENST00000462473.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	42					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GCAGACCTCCCCGACCGGGAC	0.637													6	77					0	0	0	0	T	11059022	C	T	11059022	3	4	345	1	0	0	0	0	1	0	0	0	14761	623	22	4	127	4	SLC6A1	3	11059022	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08		11059022	186963408	104	64965											
DNAH1	25981	broad.mit.edu	37	chr3	52400896	52400896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtttgacctcctcaccCatgagtggtgagtgaccccc	7	9	12	13	0	1	4	1	4	0	0	2	5	2	5	5	2	0	1	5	2	0	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:52400896C>T	ENST00000420323.2	+	36	6019	c.5758C>T	c.(5758-5760)Cat>Tat	p.H1920Y		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1920	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTCCTCACCCATGAGTGGTG	0.617													10	112					0	0	0	0	T	52400896	C	T	52400896	3	4	345	1	0	0	0	0	1	0	0	0	4634	594	21	4	5896	4	DNAH1	3	52400896	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	41341874	52400896	145621534	105	64966											
ERC2	26059	broad.mit.edu	37	chr3	55733530	55733530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctgccatcaacttcattCtgttctgggtctgtgcagaa	7	15	9	10	0	6	1	2	0	4	1	6	1	6	1	1	1	3	2	1	1	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:55733530C>T	ENST00000288221.6	-	16	2978	c.2723G>A	c.(2722-2724)aGa>aAa	p.R908K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	908						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CAACTTCATTCTGTTCTGGGT	0.468													9	216					0	0	0	0	T	55733530	C	T	55733530	3	4	345	1	0	0	0	0	1	0	0	0	5249	913	32	2	158	2	ERC2	3	55733530	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3332634	55733530	142288900	106	64967											
FLNB	2317	broad.mit.edu	37	chr3	58089729	58089729	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagaaagactttctggatggGgtctacgcattcgagtatta	11	12	11	7	2	2	2	0	0	2	2	3	4	2	3	0	3	1	2	0	3	4	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:58089729G>A	ENST00000357272.4	+	10	1692	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	FLNB_ENST00000295956.4_Silent_p.G509G|FLNB_ENST00000429972.2_Silent_p.G509G|FLNB_ENST00000419752.2_Silent_p.G340G|FLNB_ENST00000358537.3_Silent_p.G509G|FLNB_ENST00000493452.1_Silent_p.G340G|FLNB_ENST00000348383.5_Silent_p.G509G|FLNB_ENST00000490882.1_Silent_p.G509G			O75369	FLNB_HUMAN	filamin B, beta	509					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTCTGGATGGGGTCTACGCAT	0.527													7	106					0	0	0	0	A	58089729	G	A	58089729	2	1	345	1	0	0	0	0	0	0	0	1	5979	1219	43	4		4	FLNB	3	58089729	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2356199	58089729	139932701	107	64968											
CADPS	8618	broad.mit.edu	37	chr3	62478013	62478013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgaaatagtggaaaactgtCccatgtgtctggaggttgca	11	11	12	7	0	1	1	0	1	1	0	2	3	2	3	1	3	2	2	1	3	4	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:62478013C>T	ENST00000383710.4	-	20	3185	c.2836G>A	c.(2836-2838)Gac>Aac	p.D946N	CADPS_ENST00000357948.3_Missense_Mutation_p.D916N|CADPS_ENST00000283269.9_Missense_Mutation_p.D956N	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	946	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGAAAACTGTCCCATGTGTCT	0.448													27	453					0	0	0	0	T	62478013	C	T	62478013	3	4	345	1	0	0	0	0	1	0	0	0	2595	855	30	2	1269	2	CADPS	3	62478013	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	4388284	62478013	135544417	108	64969											
OR5H14	403273	broad.mit.edu	37	chr3	97868626	97868626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatgcaaacccttactttatCcagccattatgaccaatgga	13	12	5	11	0	0	1	0	1	0	0	1	2	1	2	4	1	4	1	4	1	6	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:97868626C>T	ENST00000437310.1	+	1	457	c.397C>T	c.(397-399)Cca>Tca	p.P133S		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTTACTTTATCCAGCCATTAT	0.393													18	289					0	0	0	0	T	97868626	C	T	97868626	3	4	345	1	0	0	0	0	1	0	0	0	11231	855	30	2	399	2	OR5H14	3	97868626	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	35390613	97868626	100153804	109	64970											
NIT2	56954	broad.mit.edu	37	chr3	100057967	100057967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catccagcttcagatttcttCcatcaaatcagataacgtca	13	12	4	12	1	5	2	4	0	1	2	7	2	7	2	2	0	2	1	2	0	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:100057967C>T	ENST00000394140.3	+	2	135	c.44C>T	c.(43-45)tCc>tTc	p.S15F		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	15	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CAGATTTCTTCCATCAAATCA	0.488													16	244					0	0	0	0	T	100057967	C	T	100057967	3	4	345	1	0	0	0	0	1	0	0	0	10504	855	30	2	50	2	NIT2	3	100057967	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2189341	100057967	97964463	110	64971											
ABI3BP	25890	broad.mit.edu	37	chr3	100489717	100489717	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcccctctgtggcctcCtctttggggaaccgtttgac	4	13	10	14	1	2	1	0	1	2	0	4	2	4	2	5	3	1	2	5	3	1	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:100489717C>T	ENST00000471714.1	-	61	4693	c.4584G>A	c.(4582-4584)gaG>gaA	p.E1528E	ABI3BP_ENST00000284322.5_Silent_p.E826E|ABI3BP_ENST00000383691.4_Silent_p.E780E			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	826						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTGTGGCCTCCTCTTTGGGGA	0.557													12	162					0	0	0	0	T	100489717	C	T	100489717	2	4	345	1	0	0	0	0	0	0	0	1	91	680	24	4		4	ABI3BP	3	100489717	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	431750	100489717	97532713	111	64972											
MYH15	22989	broad.mit.edu	37	chr3	108218300	108218300	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaaacaaggcaaacacttAcgtgaagagtatagactgat	19	7	9	6	1	0	4	0	2	0	2	0	5	0	4	0	1	3	2	0	1	8	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:108218300A>G	ENST00000273353.3	-	6	641		c.e6+1			NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15							myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCAAACACTTACGTGAAGAGT	0.313													4	54					0	0	0	0	G	108218300	A	G	108218300	5	3	345	1	0	0	0	0	0	0	1	0	10104	405	14	5	5402	5	MYH15	3	108218300	Splice_Site	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	7728583	108218300	89804130	112	64973											
DZIP3	9666	broad.mit.edu	37	chr3	108363276	108363276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaacagtttgacttatgcctCctgttagctcttataaaaca	13	14	5	9	0	1	1	0	1	1	0	2	1	2	1	2	0	4	3	2	0	6	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:108363276C>T	ENST00000361582.3	+	14	1637	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L	DZIP3_ENST00000463306.1_Silent_p.L469L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	469					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ACTTATGCCTCCTGTTAGCTC	0.423													10	193					0	0	0	0	T	108363276	C	T	108363276	2	4	345	1	0	0	0	0	0	0	0	1	4901	842	30	2		2	DZIP3	3	108363276	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	144976	108363276	89659154	113	64974											
TIGIT	201633	broad.mit.edu	37	chr3	114014611	114014611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtcccggcctgggcctcaCcctccagtcgctgaccgtga	5	7	12	17	3	1	2	1	2	0	0	4	2	3	2	6	3	0	1	6	3	0	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:114014611C>T	ENST00000481065.1	+	3	3097	c.482C>T	c.(481-483)aCc>aTc	p.T161I	TIGIT_ENST00000486257.1_Missense_Mutation_p.T94I|TIGIT_ENST00000383671.3_Missense_Mutation_p.T94I			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	94					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CTGGGCCTCACCCTCCAGTCG	0.577													5	101					0	0	0	0	T	114014611	C	T	114014611	3	4	345	1	0	0	0	0	1	0	0	0	15996	507	18	4	287	4	TIGIT	3	114014611	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5651335	114014611	84007819	114	64975											
B4GALT4	8702	broad.mit.edu	37	chr3	118942966	118942966	+	Missense_Mutation	SNP	G	G	A																															atgctcctcacacttgtaaaGgttaaagtcattctcgggta																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:118942966G>A	ENST00000467604.1	-	5	1004	c.613C>T	c.(613-615)Ctt>Ttt	p.L205F	B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Missense_Mutation_p.L205F|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000483209.1_Missense_Mutation_p.L205F|B4GALT4_ENST00000393765.2_Missense_Mutation_p.L205F			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	205					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CACTTGTAAAGGTTAAAGTCA	0.493													6	82					0	0	0	0	A	118942966	G	A	118942966	3	1	345	1	0	0	0	0	1	0	0	0	1277	1000	35	4	437	4	B4GALT4	3	118942966	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	4928355	118942966	79079464	115	64976	781	2									
B4GALT4	8702	broad.mit.edu	37	chr3	118942967	118942967	+	Silent	SNP	G	G	A																															tgctcctcacacttgtaaagGttaaagtcattctcgggtac																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:118942967G>A	ENST00000467604.1	-	5	1003	c.612C>T	c.(610-612)aaC>aaT	p.N204N	B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Silent_p.N204N|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000483209.1_Silent_p.N204N|B4GALT4_ENST00000393765.2_Silent_p.N204N			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	204					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	ACTTGTAAAGGTTAAAGTCAT	0.493													6	83					0	0	0	0	A	118942967	G	A	118942967	2	1	345	1	0	0	0	0	0	0	0	1	1277	1252	44	4		4	B4GALT4	3	118942967	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	118942967	79079463	116	64977	781	2									
DTX3L	151636	broad.mit.edu	37	chr3	122288166	122288166	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatttgcagcaaggtttcTgagaaaggtcagaaaacctg	14	9	11	7	0	2	2	1	1	1	2	2	4	2	2	1	2	3	3	1	2	4	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:122288166T>C	ENST00000296161.4	+	3	1419	c.1230T>C	c.(1228-1230)tcT>tcC	p.S410S	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	410					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GCAAGGTTTCTGAGAAAGGTC	0.388													8	167					0	0	0	0	C	122288166	T	C	122288166	2	2	345	1	0	0	0	0	0	0	0	1	4832	1567	55	5		5	DTX3L	3	122288166	Silent	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	3345199	122288166	75734264	117	64978											
MUC13	56667	broad.mit.edu	37	chr3	124646391	124646391	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccttacctgtgctgtttaGggtgctggtctccaataaag	7	14	11	9	0	1	0	0	0	1	0	3	0	2	0	3	2	3	3	3	2	5	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:124646391G>A	ENST00000311075.3	-	2	537	c.499C>T	c.(499-501)Cta>Tta	p.L167L		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	167	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTGCTGTTTAGGGTGCTGGTC	0.498													16	147					0	0	0	0	A	124646391	G	A	124646391	2	1	345	1	0	0	0	0	0	0	0	1	10041	991	35	4		4	MUC13	3	124646391	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2358225	124646391	73376039	118	64979											
CCDC37	348807	broad.mit.edu	37	chr3	126142196	126142196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcccatcccccccacgcagGaggacaccgacagcgatggg	9	3	11	18	3	0	0	0	0	0	0	2	4	2	2	5	3	1	1	5	3	0	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:126142196G>A	ENST00000393425.1	+	12	1213	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	CCDC37_ENST00000352312.1_Missense_Mutation_p.E371K|CCDC37_ENST00000505024.1_Missense_Mutation_p.E372K			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	371										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCCCACGCAGGAGGACACCGA	0.667													5	45					0	0	0	0	A	126142196	G	A	126142196	3	1	345	1	0	0	0	0	1	0	0	0	2835	1175	41	2	1153	2	CCDC37	3	126142196	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1495805	126142196	71880234	119	64980											
TPRA1	131601	broad.mit.edu	37	chr3	127298653	127298653	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagcagatggaagcttcCagagcaggaagatgaggaag	14	4	15	8	1	0	4	0	1	0	3	1	8	1	7	2	3	3	3	2	3	3	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:127298653C>T	ENST00000355552.3	-	3	564	c.188G>A	c.(187-189)tGg>tAg	p.W63*	TPRA1_ENST00000450633.2_Nonsense_Mutation_p.W63*|TPRA1_ENST00000296210.7_Nonsense_Mutation_p.W63*|TPRA1_ENST00000489960.1_Nonsense_Mutation_p.W63*	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	63					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						TGGAAGCTTCCAGAGCAGGAA	0.567													4	67					0	0	0	0	T	127298653	C	T	127298653	4	4	345	1	0	0	0	0	0	1	0	0	16512	595	21	4	969	4	TPRA1	3	127298653	Nonsense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1156457	127298653	70723777	120	64981											
GATA2	2624	broad.mit.edu	37	chr3	128200698	128200698	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaggccacaggcgttgcaGacagggtccccgttggcgtt	7	8	15	11	3	0	2	0	0	0	2	1	2	1	2	3	4	1	4	3	4	1	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:128200698G>A	ENST00000341105.2	-	5	1438	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V	GATA2_ENST00000487848.1_Silent_p.V369V|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Silent_p.V355V	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	369					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGGCGTTGCAGACAGGGTCCC	0.652			Mis		AML(CML blast transformation)								8	68					0	0	0	0	A	128200698	G	A	128200698	2	1	345	1	0	0	0	0	0	0	0	1	6303	929	33	2		2	GATA2	3	128200698	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	902045	128200698	69821732	121	64982											
CPNE4	131034	broad.mit.edu	37	chr3	131388572	131388572	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaatttacagatactttgaAtgatttccaggctgggctta	12	14	9	6	0	0	4	0	2	0	2	1	4	1	4	1	2	2	2	1	2	5	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:131388572A>T	ENST00000512055.1	-	11	2754	c.628T>A	c.(628-630)Ttc>Atc	p.F210I	CPNE4_ENST00000512332.1_Missense_Mutation_p.F228I|CPNE4_ENST00000502818.1_Missense_Mutation_p.F228I|CPNE4_ENST00000429747.1_Missense_Mutation_p.F210I|CPNE4_ENST00000511604.1_Missense_Mutation_p.F210I			Q96A23	CPNE4_HUMAN	copine IV	210	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GATACTTTGAATGATTTCCAG	0.408													8	182					0	0	0	0	T	131388572	A	T	131388572	3	4	345	1	0	0	0	0	1	0	0	0	3844	101	4	5	1085	5	CPNE4	3	131388572	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	3187874	131388572	66633858	122	64983											
RASA2	5922	broad.mit.edu	37	chr3	141290312	141290312	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agataaaaatgatgctgtttTgccccttgtacgactgctgc	10	13	9	9	1	0	2	0	1	0	1	0	3	0	2	2	0	5	4	2	0	4	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:141290312T>A	ENST00000286364.3	+	11	1120	c.1085T>A	c.(1084-1086)tTg>tAg	p.L362*	RASA2_ENST00000452898.1_Nonsense_Mutation_p.L362*			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	362	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GATGCTGTTTTGCCCCTTGTA	0.388													20	268					0	0	0	0	A	141290312	T	A	141290312	4	1	345	1	0	0	0	0	0	1	0	0	13143	1821	63	5	1127	5	RASA2	3	141290312	Nonsense_Mutation	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	9901740	141290312	56732118	123	64984											
PLS1	5357	broad.mit.edu	37	chr3	142416889	142416889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacctccttatcctgccCttggagggaacatgaagaag	13	8	9	11	0	0	2	0	1	0	1	2	4	2	4	4	2	3	0	4	2	5	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:142416889C>T	ENST00000337777.3	+	12	1564	c.1351C>T	c.(1351-1353)Ctt>Ttt	p.L451F	PLS1_ENST00000457734.2_Missense_Mutation_p.L451F|PLS1_ENST00000497002.1_Missense_Mutation_p.L451F	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	451	Actin-binding 2.|CH 3.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TTATCCTGCCCTTGGAGGGAA	0.403													8	41					0	0	0	0	T	142416889	C	T	142416889	3	4	345	1	0	0	0	0	1	0	0	0	12179	681	24	4	1393	4	PLS1	3	142416889	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1126577	142416889	55605541	124	64985											
GMPS	8833	broad.mit.edu	37	chr3	155654174	155654174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtgattttgacaccattaCattttgatcgggacccactt	9	14	8	10	2	0	3	0	3	0	0	1	4	0	4	2	2	1	0	2	2	1	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:155654174C>T	ENST00000496455.1	+	15	2190	c.1855C>T	c.(1855-1857)Cat>Tat	p.H619Y	GMPS_ENST00000295920.7_Missense_Mutation_p.H520Y	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	619					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GACACCATTACATTTTGATCG	0.428			T	MLL	AML								7	145					0	0	0	0	T	155654174	C	T	155654174	3	4	345	1	0	0	0	0	1	0	0	0	6549	478	17	4	1913	4	GMPS	3	155654174	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	13237285	155654174	42368256	125	64986											
PLD1	5337	broad.mit.edu	37	chr3	171338243	171338243	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagataagctcagttactagGtttccttcgagctctgcatg	9	14	9	9	1	2	1	1	0	1	1	4	2	3	1	1	1	4	5	1	1	4	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:171338243G>A	ENST00000356327.5	-	23	2617	c.2547C>T	c.(2545-2547)aaC>aaT	p.N849N	PLD1_ENST00000351298.4_Silent_p.N887N|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Silent_p.N887N	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	887	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CAGTTACTAGGTTTCCTTCGA	0.313													9	116					0	0	0	0	A	171338243	G	A	171338243	2	1	345	1	0	0	0	0	0	0	0	1	12117	1252	44	4		4	PLD1	3	171338243	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	15684069	171338243	26684187	126	64987											
ZMAT3	64393	broad.mit.edu	37	chr3	178742977	178742977	+	Missense_Mutation	SNP	G	G	A																															cacacatggccagatcacgtGgaattctctgccgagagcgg																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:178742977G>A	ENST00000311417.2	-	6	1439	c.698C>T	c.(697-699)cCa>cTa	p.P233L	ZMAT3_ENST00000432729.1_Missense_Mutation_p.P232L	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	233					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			CAGATCACGTGGAATTCTCTG	0.428													10	87					0	0	0	0	A	178742977	G	A	178742977	3	1	345	1	0	0	0	0	1	0	0	0	17788	1348	47	4	175	4	ZMAT3	3	178742977	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	7404734	178742977	19279453	127	64988	782	2									
ZMAT3	64393	broad.mit.edu	37	chr3	178742978	178742978	+	Missense_Mutation	SNP	G	G	A																															acacatggccagatcacgtgGaattctctgccgagagcggg																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:178742978G>A	ENST00000311417.2	-	6	1438	c.697C>T	c.(697-699)Cca>Tca	p.P233S	ZMAT3_ENST00000432729.1_Missense_Mutation_p.P232S	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	233					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			AGATCACGTGGAATTCTCTGC	0.423													10	87					0	0	0	0	A	178742978	G	A	178742978	3	1	345	1	0	0	0	0	1	0	0	0	17788	1174	41	2	176	2	ZMAT3	3	178742978	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	178742978	19279452	128	64989	782	2									
CCDC39	339829	broad.mit.edu	37	chr3	180381721	180381721	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaattaattcgctcttcAtactcacgtaactcatcttg	12	15	4	10	2	5	1	3	0	2	1	6	1	5	1	0	0	2	2	0	0	5	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:180381721A>T	ENST00000273654.4	-	8	1015	c.396T>A	c.(394-396)taT>taA	p.Y132*	CCDC39_ENST00000442201.2_Nonsense_Mutation_p.Y48*			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	48					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCGCTCTTCATACTCACGTA	0.318													12	120					0	0	0	0	T	180381721	A	T	180381721	4	4	345	1	0	0	0	0	0	1	0	0	2837	224	8	5	2757	5	CCDC39	3	180381721	Nonsense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	1638743	180381721	17640709	129	64990											
AHSG	197	broad.mit.edu	37	chr3	186338532	186338532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttactggcagctcctccagGacaccagttgcaccgggcgc	7	7	12	15	2	0	0	0	0	0	0	2	1	2	1	4	3	3	5	4	3	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:186338532G>A	ENST00000411641.2	+	7	1136	c.917G>A	c.(916-918)gGa>gAa	p.G306E	AHSG_ENST00000273784.5_Missense_Mutation_p.G307E			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	306					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCTCCTCCAGGACACCAGTTG	0.632													19	238					0	0	0	0	A	186338532	G	A	186338532	3	1	345	1	0	0	0	0	1	0	0	0	420	1174	41	2	943	2	AHSG	3	186338532	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	5956811	186338532	11683898	130	64991											
RPL39L	116832	broad.mit.edu	37	chr3	186838997	186838997	+	Missense_Mutation	SNP	G	G	A																															tgtacctgattttactaccaGgtttcatctgaatccactgg																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:186838997G>A	ENST00000296277.4	-	3	494	c.92C>T	c.(91-93)cCt>cTt	p.P31L	RPL39L_ENST00000433055.1_Missense_Mutation_p.P31L|RPL39L_ENST00000455270.1_Missense_Mutation_p.P31L	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	31					spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		TTTACTACCAGGTTTCATCTG	0.438													16	212					0	0	0	0	A	186838997	G	A	186838997	3	1	345	1	0	0	0	0	1	0	0	0	13678	1000	35	4	67	4	RPL39L	3	186838997	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	500465	186838997	11183433	131	64992	783	2									
RPL39L	116832	broad.mit.edu	37	chr3	186838998	186838998	+	Missense_Mutation	SNP	G	G	A																															gtacctgattttactaccagGtttcatctgaatccactggg																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:186838998G>A	ENST00000296277.4	-	3	493	c.91C>T	c.(91-93)Cct>Tct	p.P31S	RPL39L_ENST00000433055.1_Missense_Mutation_p.P31S|RPL39L_ENST00000455270.1_Missense_Mutation_p.P31S	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	31					spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		TTACTACCAGGTTTCATCTGA	0.438													16	210					0	0	0	0	A	186838998	G	A	186838998	3	1	345	1	0	0	0	0	1	0	0	0	13678	1261	44	4	68	4	RPL39L	3	186838998	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	186838998	11183432	132	64993	783	2									
LPP	4026	broad.mit.edu	37	chr3	188123992	188123992	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatggagaccacccattcCtttgggaaccccagcatttc	9	9	9	14	1	0	1	0	0	0	1	2	4	1	3	5	3	2	1	5	3	1	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:188123992C>T	ENST00000312675.4	+	3	330	c.84C>T	c.(82-84)tcC>tcT	p.S28S	LPP_ENST00000543006.1_Silent_p.S28S|LPP_ENST00000448637.1_Silent_p.S28S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	28					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCACCCATTCCTTTGGGAACC	0.522			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								30	280					0	0	0	0	T	188123992	C	T	188123992	2	4	345	1	0	0	0	0	0	0	0	1	8987	668	24	4		4	LPP	3	188123992	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1284994	188123992	9898438	133	64994											
ATP13A5	344905	broad.mit.edu	37	chr3	193039579	193039579	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggacatcctctgcaggctCgaggaaaatggaaactggca	13	6	12	10	2	1	0	0	0	1	0	3	4	2	3	1	5	2	3	1	5	3	0	rs138029126	by1000genomes	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr3:193039579C>T	ENST00000342358.4	-	16	1923	c.1806G>A	c.(1804-1806)tcG>tcA	p.S602S		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	602					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.S602S(1)		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)		TCTGCAGGCTCGAGGAAAATG	0.502													4	65					0	0	0	0	T	193039579	C	T	193039579	2	4	345	1	0	0	0	0	0	0	0	1	1131	871	31	1		1	ATP13A5	3	193039579	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	4915587	193039579	4982851	134	64995											
ZNF721	170960	broad.mit.edu	37	chr4	437596	437596	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattctttacatttgtaGggtttatctccagtatgaat	10	17	6	8	0	2	1	0	1	2	0	3	1	2	1	2	1	1	3	2	1	5	8			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:437596G>A	ENST00000338977.5	-	2	672	c.624C>T	c.(622-624)ccC>ccT	p.P208P	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Silent_p.P220P					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TACATTTGTAGGGTTTATCTC	0.378													5	73					0	0	0	0	A	437596	G	A	437596	2	1	345	1	0	0	0	0	0	0	0	1	18217	987	35	4		4	ZNF721	4	437596	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08		437596	190716680	135	64996											
TBC1D14	57533	broad.mit.edu	37	chr4	6925443	6925443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcctgcgcgctgccatcCtgtgcgccaccagctcctag	5	7	11	18	4	0	0	0	0	0	0	2	0	2	0	6	0	5	2	6	0	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:6925443C>T	ENST00000409757.4	+	2	451	c.327C>T	c.(325-327)tcC>tcT	p.S109S	TBC1D14_ENST00000448507.1_Silent_p.S109S	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	109						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CGCTGCCATCCTGTGCGCCAC	0.647													20	185					0	0	0	0	T	6925443	C	T	6925443	2	4	345	1	0	0	0	0	0	0	0	1	15694	668	24	4		4	TBC1D14	4	6925443	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	6487847	6925443	184228833	136	64997											
HTRA3	94031	broad.mit.edu	37	chr4	8293147	8293147	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcggccgacctgcggcctggGgagtttgtggtggccatcgg	3	9	18	11	4	0	0	0	0	0	0	2	2	0	1	4	7	1	1	4	7	0	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:8293147G>A	ENST00000307358.2	+	4	963	c.759G>A	c.(757-759)ggG>ggA	p.G253G	HTRA3_ENST00000382512.3_Silent_p.G253G	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	253	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TGCGGCCTGGGGAGTTTGTGG	0.617													10	77					0	0	0	0	A	8293147	G	A	8293147	2	1	345	1	0	0	0	0	0	0	0	1	7508	1219	43	4		4	HTRA3	4	8293147	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1367704	8293147	182861129	137	64998											
ACOX3	8310	broad.mit.edu	37	chr4	8383249	8383249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccttgcttcaaagtcactGcttcctgatcttttctcttg	5	19	5	12	0	4	1	2	1	2	0	7	1	6	1	2	0	2	2	2	0	1	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:8383249G>A	ENST00000356406.5	-	14	1700	c.1623C>T	c.(1621-1623)agC>agT	p.S541S	ACOX3_ENST00000413009.2_Silent_p.S541S|ACOX3_ENST00000503233.1_Silent_p.S541S	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	541					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CAAAGTCACTGCTTCCTGATC	0.428													8	158					0	0	0	0	A	8383249	G	A	8383249	2	1	345	1	0	0	0	0	0	0	0	1	160	1310	46	4		4	ACOX3	4	8383249	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	90102	8383249	182771027	138	64999											
GPR125	166647	broad.mit.edu	37	chr4	22414906	22414906	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttccagcctccttgtcCgttcagcaaatcgaaatccc	9	11	6	15	2	1	1	1	1	0	0	6	2	5	1	5	0	2	2	5	0	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:22414906C>A	ENST00000334304.5	-	14	2400	c.2131G>T	c.(2131-2133)Gga>Tga	p.G711*	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	711	GPS.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.G711*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCTCCTTGTCCGTTCAGCAAA	0.453													19	210					3.51602e-12	3.60854e-12	1	0	A	22414906	C	A	22414906	4	1	345	1	0	0	0	0	0	1	0	0	6688	661	23	3	1858	3	GPR125	4	22414906	Nonsense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	14031657	22414906	168739370	139	65000											
SLC34A2	10568	broad.mit.edu	37	chr4	25676153	25676153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgtgataaccattgagaggGcttatccactcacgctgggc	9	9	12	11	2	1	2	1	2	0	1	2	3	2	2	2	2	1	2	2	2	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:25676153G>A	ENST00000382051.3	+	12	1410	c.1360G>A	c.(1360-1362)Gct>Act	p.A454T	SLC34A2_ENST00000504570.1_Missense_Mutation_p.A453T|SLC34A2_ENST00000503434.1_Missense_Mutation_p.A453T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	454					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CATTGAGAGGGCTTATCCACT	0.567			T	ROS1	NSCLC								13	154					0	0	0	0	A	25676153	G	A	25676153	3	1	345	1	0	0	0	0	1	0	0	0	14656	1203	42	4	1402	4	SLC34A2	4	25676153	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3261247	25676153	165478123	140	65001											
KLB	152831	broad.mit.edu	37	chr4	39436031	39436031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggatggcgactatccagagGggatgagaaagaagttgttc	12	8	16	5	1	0	3	0	1	0	3	2	7	1	5	1	4	0	2	1	4	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:39436031G>A	ENST00000257408.4	+	2	1124	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	343	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CTATCCAGAGGGGATGAGAAA	0.453													16	114					0	0	0	0	A	39436031	G	A	39436031	3	1	345	1	0	0	0	0	1	0	0	0	8384	1232	43	4	1033	4	KLB	4	39436031	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	13759878	39436031	151718245	141	65002											
PDS5A	23244	broad.mit.edu	37	chr4	39851152	39851152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcttacttcatttgtcttGgattcatctggagactgggc	7	16	9	9	0	5	1	2	0	3	1	5	3	5	2	0	3	1	0	0	3	1	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:39851152G>A	ENST00000303538.8	-	27	3746	c.3207C>T	c.(3205-3207)tcC>tcT	p.S1069S		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1069					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CATTTGTCTTGGATTCATCTG	0.348													16	108					0	0	0	0	A	39851152	G	A	39851152	2	1	345	1	0	0	0	0	0	0	0	1	11762	1335	47	4		4	PDS5A	4	39851152	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	415121	39851152	151303124	142	65003											
FRYL	285527	broad.mit.edu	37	chr4	48512910	48512910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acagcatcatcacttccaagGaacttttaaatttggtacca	14	12	5	10	0	2	0	2	0	0	0	3	1	3	1	2	2	3	2	2	2	5	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:48512910G>A	ENST00000537810.1	-	58	8841	c.8237C>T	c.(8236-8238)tCc>tTc	p.S2746F	FRYL_ENST00000264319.7_Missense_Mutation_p.S142F|FRYL_ENST00000503238.1_Missense_Mutation_p.S2746F|FRYL_ENST00000507873.2_Missense_Mutation_p.S142F|FRYL_ENST00000358350.4_Missense_Mutation_p.S2746F			O94915	FRYL_HUMAN	FRY-like	2746					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CACTTCCAAGGAACTTTTAAA	0.373													18	163					0	0	0	0	A	48512910	G	A	48512910	3	1	345	1	0	0	0	0	1	0	0	0	6112	1174	41	2	832	2	FRYL	4	48512910	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	8661758	48512910	142641366	143	65004											
SLC4A4	8671	broad.mit.edu	37	chr4	72352685	72352685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaatatctcaatatctaatGacaccacactggccccagag	14	9	5	13	0	2	2	1	1	2	1	3	2	2	2	3	1	0	0	3	1	5	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:72352685G>A	ENST00000340595.3	+	12	1988	c.1792G>A	c.(1792-1794)Gac>Aac	p.D598N	SLC4A4_ENST00000425175.1_Missense_Mutation_p.D642N|SLC4A4_ENST00000264485.5_Missense_Mutation_p.D642N|SLC4A4_ENST00000351898.6_Missense_Mutation_p.D642N	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	642						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AATATCTAATGACACCACACT	0.289													6	57					0	0	0	0	A	72352685	G	A	72352685	3	1	345	1	0	0	0	0	1	0	0	0	14744	1290	45	2	2099	2	SLC4A4	4	72352685	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	23839775	72352685	118801591	144	65005											
ADAMTS3	9508	broad.mit.edu	37	chr4	73414295	73414295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggctctgttctccggattCtatacgtagcacttcctggt	7	14	9	11	2	3	0	0	0	3	0	5	1	4	1	2	3	2	4	2	3	4	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:73414295C>T	ENST00000286657.4	-	3	440	c.404G>A	c.(403-405)aGa>aAa	p.R135K	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	135					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTCCGGATTCTATACGTAGC	0.498													18	195					0	0	0	0	T	73414295	C	T	73414295	3	4	345	1	0	0	0	0	1	0	0	0	267	913	32	2	3293	2	ADAMTS3	4	73414295	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1061610	73414295	117739981	145	65006											
FRAS1	80144	broad.mit.edu	37	chr4	79440498	79440498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcggcaggtgagggactctgCccagtccttcttgacagtgc	6	10	13	12	1	2	2	0	2	2	0	4	3	3	3	2	3	2	1	2	3	0	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:79440498C>T	ENST00000264895.6	+	67	10843	c.10403C>T	c.(10402-10404)gCc>gTc	p.A3468V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3463					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGGGACTCTGCCCAGTCCTTC	0.522													20	173					0	0	0	0	T	79440498	C	T	79440498	3	4	345	1	0	0	0	0	1	0	0	0	6089	739	26	4	10744	4	FRAS1	4	79440498	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	6026203	79440498	111713778	146	65007											
TIGD2	166815	broad.mit.edu	37	chr4	90035653	90035653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattggtattaaggaggcttCggaccataataagaaaaaaa	19	9	9	4	1	0	1	0	0	0	1	1	3	0	3	1	4	0	2	1	4	8	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:90035653C>T	ENST00000317005.2	+	1	1686	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	510					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AAGGAGGCTTCGGACCATAAT	0.343													10	131					0	0	0	0	T	90035653	C	T	90035653	3	4	345	1	0	0	0	0	1	0	0	0	15990	875	31	1	1530	1	TIGD2	4	90035653	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	10595155	90035653	101118623	147	65008											
MMRN1	22915	broad.mit.edu	37	chr4	90856924	90856924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcaaagaacttacaaaaaGacacaacttacttagaaatg	21	9	4	7	0	1	3	1	0	0	3	1	3	1	3	0	0	4	0	0	0	10	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:90856924G>A	ENST00000394980.1	+	7	2412	c.2093G>A	c.(2092-2094)aGa>aAa	p.R698K	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.R440K|MMRN1_ENST00000264790.2_Missense_Mutation_p.R698K			Q13201	MMRN1_HUMAN	multimerin 1	698					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTTACAAAAAGACACAACTTA	0.333													7	84					0	0	0	0	A	90856924	G	A	90856924	3	1	345	1	0	0	0	0	1	0	0	0	9740	942	33	2	2115	2	MMRN1	4	90856924	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	821271	90856924	100297352	148	65009											
UNC5C	8633	broad.mit.edu	37	chr4	96124061	96124061	+	Missense_Mutation	SNP	C	C	A																															gatgtggcaggcctctgcatCcagctgaatgtagcaggggg																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:96124061C>A	ENST00000453304.1	-	12	2305	c.1957G>T	c.(1957-1959)Gat>Tat	p.D653Y		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	653					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCCTCTGCATCCAGCTGAATG	0.602													14	101					0.000151284	0.000153028	1	0	A	96124061	C	A	96124061	3	1	345	1	0	0	0	0	1	0	0	0	17089	855	30	2	858	2	UNC5C	4	96124061	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5267137	96124061	95030215	149	65010	784	2									
UNC5C	8633	broad.mit.edu	37	chr4	96124062	96124062	+	Silent	SNP	C	C	T																															atgtggcaggcctctgcatcCagctgaatgtagcagggggt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:96124062C>T	ENST00000453304.1	-	12	2304	c.1956G>A	c.(1954-1956)ctG>ctA	p.L652L		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	652					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CCTCTGCATCCAGCTGAATGT	0.602													13	99					0	0	0	0	T	96124062	C	T	96124062	2	4	345	1	0	0	0	0	0	0	0	1	17089	581	21	4		4	UNC5C	4	96124062	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1	96124062	95030214	150	65011	784	2									
CENPE	1062	broad.mit.edu	37	chr4	104030071	104030071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtgattcctttggcacagGatcttgtaaattccgttcct	7	16	9	9	1	1	1	0	1	1	0	4	2	4	2	3	3	0	3	3	3	2	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:104030071G>A	ENST00000265148.3	-	48	7989	c.7900C>T	c.(7900-7902)Cct>Tct	p.P2634S	CENPE_ENST00000380026.3_Missense_Mutation_p.P2513S	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2634	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTGGCACAGGATCTTGTAAA	0.378													22	173					0	0	0	0	A	104030071	G	A	104030071	3	1	345	1	0	0	0	0	1	0	0	0	3259	1174	41	2	213	2	CENPE	4	104030071	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	7906009	104030071	87124205	151	65012											
GSTCD	79807	broad.mit.edu	37	chr4	106650653	106650653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgcagcagtcagcccaaagGaaggtgagttttcttttttc	9	13	10	9	0	2	1	1	1	1	0	3	2	2	2	1	2	3	3	1	2	2	5	rs140843076		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:106650653G>A	ENST00000515279.1	+	5	1457	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	GSTCD_ENST00000507281.1_Missense_Mutation_p.E326K|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000394728.3_Missense_Mutation_p.E413K|GSTCD_ENST00000394730.3_Missense_Mutation_p.E326K|GSTCD_ENST00000360505.5_Missense_Mutation_p.E413K			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	413						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CAGCCCAAAGGAAGGTGAGTT	0.393													7	62					0	0	0	0	A	106650653	G	A	106650653	3	1	345	1	0	0	0	0	1	0	0	0	6885	1175	41	2	1251	2	GSTCD	4	106650653	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2620582	106650653	84503623	152	65013											
SEC24D	9871	broad.mit.edu	37	chr4	119665181	119665181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaagggttcctccagtgaGctgaggaaccagccccagcg	10	6	13	12	1	0	2	0	2	0	0	2	3	2	3	5	2	4	3	5	2	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:119665181G>A	ENST00000379735.5	-	15	2231	c.1960C>T	c.(1960-1962)Ctc>Ttc	p.L654F	SEC24D_ENST00000280551.6_Missense_Mutation_p.L653F|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Missense_Mutation_p.L209F|SEC24D_ENST00000511481.1_Missense_Mutation_p.L284F|SEC24D_ENST00000419654.2_Missense_Mutation_p.L209F	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	653					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CCTCCAGTGAGCTGAGGAACC	0.478													5	57					0	0	0	0	A	119665181	G	A	119665181	3	1	345	1	0	0	0	0	1	0	0	0	14084	971	34	4	1177	4	SEC24D	4	119665181	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	13014528	119665181	71489095	153	65014											
TRPC3	7222	broad.mit.edu	37	chr4	122828544	122828544	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggcaaaaaacaccataatAaagaggaccatgaacttgaa	22	5	7	7	0	0	3	0	2	0	1	0	4	0	4	2	2	2	1	2	2	9	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:122828544A>T	ENST00000264811.5	-	6	2170	c.1752T>A	c.(1750-1752)ttT>ttA	p.F584L	TRPC3_ENST00000513531.1_Missense_Mutation_p.F529L|TRPC3_ENST00000379645.3_Missense_Mutation_p.F657L	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	572					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACACCATAATAAAGAGGACCA	0.408													23	236					0	0	0	0	T	122828544	A	T	122828544	3	4	345	1	0	0	0	0	1	0	0	0	16674	359	13	5	818	5	TRPC3	4	122828544	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	3163363	122828544	68325732	154	65015											
TTC29	83894	broad.mit.edu	37	chr4	147796051	147796051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcaattgatggaatgcttCataatgctcagcagcttcca	11	13	8	9	0	3	1	3	1	0	0	4	2	4	2	1	1	4	4	1	1	3	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:147796051C>T	ENST00000513335.1	-	8	893	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	TTC29_ENST00000398886.4_Missense_Mutation_p.E232K|TTC29_ENST00000325106.4_Missense_Mutation_p.E206K			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	206							binding	p.E206K(2)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGAATGCTTCATAATGCTCA	0.448													3	27					0	0	0	0	T	147796051	C	T	147796051	3	4	345	1	0	0	0	0	1	0	0	0	16792	835	29	2	839	2	TTC29	4	147796051	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	24967507	147796051	43358225	155	65016											
ARHGAP10	79658	broad.mit.edu	37	chr4	148984409	148984409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acccgggtcgtcccctttccCcttttctcctcctgctactg	2	14	6	19	2	1	0	0	0	1	0	6	0	4	0	7	1	2	1	7	1	1	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:148984409C>T	ENST00000336498.3	+	21	2377	c.2138C>T	c.(2137-2139)cCc>cTc	p.P713L	ARHGAP10_ENST00000414545.2_Intron	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	713					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TCCCCTTTCCCCTTTTCTCCT	0.547													4	55					0	0	0	0	T	148984409	C	T	148984409	3	4	345	1	0	0	0	0	1	0	0	0	864	623	22	4	2220	4	ARHGAP10	4	148984409	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1188358	148984409	42169867	156	65017											
DCHS2	54798	broad.mit.edu	37	chr4	155242276	155242276	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaggtgatcagatgacttTatcaagctcattatttttgt	11	17	8	5	0	3	4	3	3	0	1	3	4	3	4	0	1	1	1	0	1	4	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:155242276T>C	ENST00000357232.3	-	14	2909	c.2910A>G	c.(2908-2910)atA>atG	p.I970M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	970	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGATGACTTTATCAAGCTCA	0.348													6	117					0	0	0	0	C	155242276	T	C	155242276	3	2	345	1	0	0	0	0	1	0	0	0	4320	1744	61	5	5888	5	DCHS2	4	155242276	Missense_Mutation	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	6257867	155242276	35912000	157	65018											
GRIA2	2891	broad.mit.edu	37	chr4	158254059	158254059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaattgaaatctcccgaaGggggaatgcaggagactgtc	14	7	13	7	1	1	3	0	1	1	2	3	6	1	4	1	3	1	1	1	3	5	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:158254059G>A	ENST00000296526.7	+	7	1296	c.971G>A	c.(970-972)aGg>aAg	p.R324K	GRIA2_ENST00000393815.2_Missense_Mutation_p.R277K|GRIA2_ENST00000449365.1_Missense_Mutation_p.R277K|GRIA2_ENST00000507898.1_Missense_Mutation_p.R277K|GRIA2_ENST00000264426.9_Missense_Mutation_p.R324K	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	324					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATCTCCCGAAGGGGGAATGCA	0.483													13	101					0	0	0	0	A	158254059	G	A	158254059	3	1	345	1	0	0	0	0	1	0	0	0	6818	1000	35	4	997	4	GRIA2	4	158254059	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3011783	158254059	32900217	158	65019											
GRIA2	2891	broad.mit.edu	37	chr4	158262422	158262422	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacttgttattagatccctCtctgggcgcattgttggagg	7	15	11	8	1	1	1	0	0	1	1	3	2	2	2	1	3	1	3	1	3	3	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:158262422C>T	ENST00000296526.7	+	12	2176	c.1851C>T	c.(1849-1851)ctC>ctT	p.L617L	GRIA2_ENST00000393815.2_Silent_p.L570L|GRIA2_ENST00000449365.1_Silent_p.L570L|GRIA2_ENST00000507898.1_Silent_p.L570L|GRIA2_ENST00000264426.9_Silent_p.L617L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	617					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TTAGATCCCTCTCTGGGCGCA	0.403													20	182					0	0	0	0	T	158262422	C	T	158262422	2	4	345	1	0	0	0	0	0	0	0	1	6818	900	32	2		2	GRIA2	4	158262422	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	8363	158262422	32891854	159	65020											
FSTL5	56884	broad.mit.edu	37	chr4	162402297	162402297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acacctctgaacttcatctcCctcagctttgggacagactt	9	12	6	14	0	4	2	2	1	2	1	5	3	4	3	2	1	2	1	2	1	1	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:162402297C>T	ENST00000306100.5	-	13	1919	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	FSTL5_ENST00000379164.4_Missense_Mutation_p.G494R|FSTL5_ENST00000427802.2_Missense_Mutation_p.G485R|FSTL5_ENST00000536695.1_Missense_Mutation_p.G494R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	495						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACTTCATCTCCCTCAGCTTTG	0.373													20	190					0	0	0	0	T	162402297	C	T	162402297	3	4	345	1	0	0	0	0	1	0	0	0	6128	632	22	4	1076	4	FSTL5	4	162402297	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	4139875	162402297	28751979	160	65021											
FSTL5	56884	broad.mit.edu	37	chr4	162697226	162697226	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtagtcttgcacttatctCctgtaacaaaagaactagtt	13	13	6	9	0	2	1	0	0	2	1	3	1	2	1	1	0	3	4	1	0	7	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:162697226C>T	ENST00000306100.5	-	5	846	c.409_splice	c.e5-1	p.G137_splice	FSTL5_ENST00000379164.4_Splice_Site_p.G136_splice|FSTL5_ENST00000427802.2_Splice_Site_p.G136_splice|FSTL5_ENST00000536695.1_Splice_Site_p.G136_splice	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	137						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GCACTTATCTCCTGTAACAAA	0.239													7	39					0	0	0	0	T	162697226	C	T	162697226	5	4	345	1	0	0	0	0	0	0	1	0	6128	869	30	2	2181	2	FSTL5	4	162697226	Splice_Site	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	294929	162697226	28457050	161	65022											
SORBS2	8470	broad.mit.edu	37	chr4	186545293	186545293	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactgcgaacctccgggacGtagggggacccccacgccat	8	6	12	15	4	0	0	0	0	0	0	1	3	1	2	5	3	3	1	5	3	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:186545293G>A	ENST00000431808.1	-	14	1841	c.1278C>T	c.(1276-1278)taC>taT	p.Y426Y	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.Y526Y|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_Silent_p.Y426Y|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Silent_p.Y330Y			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	426						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CCTCCGGGACGTAGGGGGACC	0.587													10	93					0	0	0	0	A	186545293	G	A	186545293	2	1	345	1	0	0	0	0	0	0	0	1	15016	1140	40	1		1	SORBS2	4	186545293	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	23848067	186545293	4608983	162	65023											
ZFP42	132625	broad.mit.edu	37	chr4	188924697	188924697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atactggagagaagccgtttCggtgcacttttgaagggtgc	9	11	14	7	2	0	2	0	1	0	1	1	4	0	3	1	3	4	2	1	3	3	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr4:188924697C>T	ENST00000326866.4	+	4	1144	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ZFP42_ENST00000509524.1_Missense_Mutation_p.R246W	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	246					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAGCCGTTTCGGTGCACTTT	0.522													8	71					0	0	0	0	T	188924697	C	T	188924697	3	4	345	1	0	0	0	0	1	0	0	0	17745	875	31	1	738	1	ZFP42	4	188924697	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2379404	188924697	2229579	163	65024											
SLC6A19	340024	broad.mit.edu	37	chr5	1214088	1214088	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacggagctggcccagccGgacacctggctggacgcggg	6	4	17	14	4	1	0	1	0	0	0	1	3	1	3	3	6	2	2	3	6	0	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:1214088G>A	ENST00000304460.10	+	6	851	c.795G>A	c.(793-795)ccG>ccA	p.P265P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	265					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGGCCCAGCCGGACACCTGGC	0.657													17	105					0	0	0	0	A	1214088	G	A	1214088	2	1	345	1	0	0	0	0	0	0	0	1	14770	1103	39	1		1	SLC6A19	5	1214088	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08		1214088	179701172	164	65025											
DNAH5	1767	broad.mit.edu	37	chr5	13701416	13701416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgcattgcagttaaaaatcCctgggggttaaaaaaacccg	14	9	9	9	2	0	0	0	0	0	0	2	0	1	0	2	2	2	4	2	2	7	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:13701416C>T	ENST00000265104.4	-	77	13572	c.13468G>A	c.(13468-13470)Gga>Aga	p.G4490R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4490					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTAAAAATCCCTGGGGGTTA	0.408									Kartagener syndrome				15	146					0	0	0	0	T	13701416	C	T	13701416	3	4	345	1	0	0	0	0	1	0	0	0	4641	632	22	4	418	4	DNAH5	5	13701416	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	12487328	13701416	167213844	165	65026											
CDH10	1008	broad.mit.edu	37	chr5	24487975	24487975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtgcggtggggtcaagatCatgctcttttagcctttcat	6	14	13	8	1	4	1	3	0	1	1	4	1	4	1	1	4	3	1	1	4	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:24487975C>T	ENST00000264463.4	-	12	2671	c.2164G>A	c.(2164-2166)Gat>Aat	p.D722N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	722					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGGTCAAGATCATGCTCTTTT	0.443										HNSCC(23;0.051)			13	128					0	0	0	0	T	24487975	C	T	24487975	3	4	345	1	0	0	0	0	1	0	0	0	3125	826	29	2	206	2	CDH10	5	24487975	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	10786559	24487975	156427285	166	65027											
CDH9	1007	broad.mit.edu	37	chr5	26903817	26903817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatgtctgcaccatctcCttcagcaatgctatactcca	11	11	5	14	0	3	0	1	0	2	0	5	1	4	0	3	0	5	3	3	0	4	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:26903817C>T	ENST00000231021.4	-	6	1100	c.928G>A	c.(928-930)Gga>Aga	p.G310R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	310	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCACCATCTCCTTCAGCAATG	0.428													34	268					0	0	0	0	T	26903817	C	T	26903817	3	4	345	1	0	0	0	0	1	0	0	0	3146	690	24	4	1469	4	CDH9	5	26903817	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2415842	26903817	154011443	167	65028											
DNAJC21	134218	broad.mit.edu	37	chr5	34941270	34941270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcccagcatgtgacaaatCgttcaagacagaaaaggcgt	14	7	10	10	2	1	3	1	1	0	2	2	3	1	3	1	1	2	2	1	1	4	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:34941270C>T	ENST00000382021.2	+	7	1192	c.965C>T	c.(964-966)tCg>tTg	p.S322L	DNAJC21_ENST00000342382.4_Missense_Mutation_p.S322L|DNAJC21_ENST00000303525.7_Missense_Mutation_p.S322L	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	322	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TGTGACAAATCGTTCAAGACA	0.443													14	83					0	0	0	0	T	34941270	C	T	34941270	3	4	345	1	0	0	0	0	1	0	0	0	4676	893	31	1	991	1	DNAJC21	5	34941270	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	8037453	34941270	145973990	168	65029											
SPEF2	79925	broad.mit.edu	37	chr5	35740240	35740240	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatgtctacagaacaagtttCcaggagtttctaaagcgtcc	13	11	8	9	1	2	1	0	0	2	1	4	2	4	2	2	1	3	2	2	1	6	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:35740240C>T	ENST00000440995.2	+	23	3186	c.3186C>T	c.(3184-3186)ttC>ttT	p.F1062F	SPEF2_ENST00000356031.3_Silent_p.F1067F|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1067					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAACAAGTTTCCAGGAGTTTC	0.378													21	174					0	0	0	0	T	35740240	C	T	35740240	2	4	345	1	0	0	0	0	0	0	0	1	15125	854	30	2		2	SPEF2	5	35740240	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	798970	35740240	145175020	169	65030											
SPEF2	79925	broad.mit.edu	37	chr5	35763785	35763785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacacctggcagcaggcttCtttagcagtatctcacatgg	9	10	11	11	0	2	0	1	0	2	0	3	1	2	1	1	4	2	5	1	4	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:35763785C>T	ENST00000440995.2	+	26	3767	c.3767C>T	c.(3766-3768)tCt>tTt	p.S1256F	SPEF2_ENST00000356031.3_Missense_Mutation_p.S1261F|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1261					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCAGGCTTCTTTAGCAGTA	0.403													8	88					0	0	0	0	T	35763785	C	T	35763785	3	4	345	1	0	0	0	0	1	0	0	0	15125	913	32	2	3905	2	SPEF2	5	35763785	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	23545	35763785	145151475	170	65031											
IL7R	3575	broad.mit.edu	37	chr5	35876365	35876365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctattctctcctcttccaGgtccctagactgcagggaga	7	11	8	15	0	2	2	0	0	2	2	6	3	5	2	4	2	1	1	4	2	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:35876365G>A	ENST00000303115.3	+	8	1286	c.1157G>A	c.(1156-1158)aGg>aAg	p.R386K	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	386				R -> G (in Ref. 7; AAH67539).	immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCCTCTTCCAGGTCCCTAGAC	0.537			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						12	80					0	0	0	0	A	35876365	G	A	35876365	3	1	345	1	0	0	0	0	1	0	0	0	7758	1000	35	4	1187	4	IL7R	5	35876365	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	112580	35876365	145038895	171	65032											
EGFLAM	133584	broad.mit.edu	37	chr5	38350679	38350679	+	Missense_Mutation	SNP	G	G	A																															ttacagccaggctggcaaagGgcggctgagctctcctcggc																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:38350679G>A	ENST00000322350.5	+	4	714	c.368G>A	c.(367-369)gGg>gAg	p.G123E	EGFLAM_ENST00000354891.3_Missense_Mutation_p.G123E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	123	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCTGGCAAAGGGCGGCTGAGC	0.478													10	86					0	0	0	0	A	38350679	G	A	38350679	3	1	345	1	0	0	0	0	1	0	0	0	5002	1232	43	4	382	4	EGFLAM	5	38350679	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2474314	38350679	142564581	172	65033	785	2									
EGFLAM	133584	broad.mit.edu	37	chr5	38350680	38350680	+	Silent	SNP	G	G	A																															tacagccaggctggcaaaggGcggctgagctctcctcggca																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:38350680G>A	ENST00000322350.5	+	4	715	c.369G>A	c.(367-369)ggG>ggA	p.G123G	EGFLAM_ENST00000354891.3_Silent_p.G123G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	123	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGGCAAAGGGCGGCTGAGCT	0.478													10	86					0	0	0	0	A	38350680	G	A	38350680	2	1	345	1	0	0	0	0	0	0	0	1	5002	1190	42	4		4	EGFLAM	5	38350680	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	38350680	142564580	173	65034	785	2									
FYB	2533	broad.mit.edu	37	chr5	39202854	39202854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgtcaggcttttcctcaGaagaaggtttgactgccaca	9	12	9	11	0	2	3	2	1	0	2	3	3	3	3	3	2	1	2	3	2	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:39202854G>A	ENST00000351578.6	-	2	399	c.209C>T	c.(208-210)tCt>tTt	p.S70F	FYB_ENST00000505428.1_Missense_Mutation_p.S70F|FYB_ENST00000512982.1_Missense_Mutation_p.S70F|FYB_ENST00000540520.1_Missense_Mutation_p.S80F|FYB_ENST00000515010.1_Missense_Mutation_p.S70F	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	70					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTTTTCCTCAGAAGAAGGTTT	0.537													9	43					0	0	0	0	A	39202854	G	A	39202854	3	1	345	1	0	0	0	0	1	0	0	0	6172	942	33	2	2352	2	FYB	5	39202854	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	852174	39202854	141712406	174	65035											
C9	735	broad.mit.edu	37	chr5	39311416	39311416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttgttgtgagcacaacatCgcgatttctcattacaaatc	12	13	7	9	2	1	1	1	1	1	0	4	2	1	1	0	0	3	3	0	0	3	4	rs147710831		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:39311416C>T	ENST00000263408.4	-	7	1029	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	312	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGCACAACATCGCGATTTCTC	0.368													8	159					0	0	0	0	T	39311416	C	T	39311416	3	4	345	1	0	0	0	0	1	0	0	0	2468	884	31	1	765	1	C9	5	39311416	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	108562	39311416	141603844	175	65036											
HCN1	348980	broad.mit.edu	37	chr5	45267254	45267254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctcatcattggatattcctCcaggacctcgttgaaattgt	9	14	7	11	1	2	1	2	1	0	0	5	3	4	3	4	2	0	1	4	2	2	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:45267254C>T	ENST00000303230.4	-	7	1777	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	574						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGATATTCCTCCAGGACCTCG	0.423													7	147					0	0	0	0	T	45267254	C	T	45267254	3	4	345	1	0	0	0	0	1	0	0	0	7046	864	30	2	960	2	HCN1	5	45267254	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5955838	45267254	135648006	176	65037											
ITGA2	3673	broad.mit.edu	37	chr5	52361760	52361760	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatttaaatggggattcCatcaccgatgtgtctattgg	10	13	12	6	1	2	1	1	0	1	1	3	4	3	2	2	4	0	0	2	4	3	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:52361760C>T	ENST00000296585.5	+	15	2039	c.1896C>T	c.(1894-1896)tcC>tcT	p.S632S		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	632					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATGGGGATTCCATCACCGATG	0.448													13	123					0	0	0	0	T	52361760	C	T	52361760	2	4	345	1	0	0	0	0	0	0	0	1	7928	581	21	4		4	ITGA2	5	52361760	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	7094506	52361760	128553500	177	65038											
TRIM23	373	broad.mit.edu	37	chr5	64892886	64892886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcatacttaccaattgttGgaatgggctgcatgaattca	12	14	8	7	0	2	1	2	1	0	0	2	2	2	2	1	2	3	3	1	2	5	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:64892886G>A	ENST00000231524.9	-	8	1672	c.1301C>T	c.(1300-1302)cCa>cTa	p.P434L	TRIM23_ENST00000274327.7_Missense_Mutation_p.P434L|TRIM23_ENST00000381018.3_Missense_Mutation_p.P434L	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	434	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ACCAATTGTTGGAATGGGCTG	0.378													8	164					0	0	0	0	A	64892886	G	A	64892886	3	1	345	1	0	0	0	0	1	0	0	0	16592	1348	47	4	506	4	TRIM23	5	64892886	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	12531126	64892886	116022374	178	65039											
MAP1B	4131	broad.mit.edu	37	chr5	71482527	71482527	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aataccggagagctcattctCcagtccggctctttctcctt	7	13	7	14	2	4	1	1	0	3	1	7	2	5	1	4	2	2	2	4	2	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:71482527C>T	ENST00000296755.7	+	4	754	c.456C>T	c.(454-456)ctC>ctT	p.L152L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	152						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGCTCATTCTCCAGTCCGGCT	0.493													7	127					0	0	0	0	T	71482527	C	T	71482527	2	4	345	1	0	0	0	0	0	0	0	1	9297	842	30	2		2	MAP1B	5	71482527	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	6589641	71482527	109432733	179	65040											
CMYA5	202333	broad.mit.edu	37	chr5	79031022	79031022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatgcaagagagcctcaatCcccagagtcacctgaggtga	12	6	10	13	0	2	4	2	2	0	2	3	5	3	4	5	1	2	1	5	1	2	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:79031022C>T	ENST00000446378.2	+	2	6465	c.6434C>T	c.(6433-6435)tCc>tTc	p.S2145F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2145						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGCCTCAATCCCCAGAGTCA	0.448													6	111					0	0	0	0	T	79031022	C	T	79031022	3	4	345	1	0	0	0	0	1	0	0	0	3620	855	30	2	6440	2	CMYA5	5	79031022	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	7548495	79031022	101884238	180	65041											
MEF2C	4208	broad.mit.edu	37	chr5	88057136	88057136	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagccattaaggcccttctTtctcaacgtctgaaatacat	12	12	5	12	1	3	1	1	1	3	0	4	1	3	1	2	1	3	0	2	1	4	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:88057136T>A	ENST00000504921.2	-	4	940	c.268A>T	c.(268-270)Aag>Tag	p.K90*	MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000437473.2_Nonsense_Mutation_p.K90*|MEF2C_ENST00000506554.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000514028.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000340208.5_Nonsense_Mutation_p.K90*|MEF2C_ENST00000514015.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000510942.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000508569.1_Nonsense_Mutation_p.K90*			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	90					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AGGCCCTTCTTTCTCAACGTC	0.453										HNSCC(66;0.2)			8	116					0	0	0	0	A	88057136	T	A	88057136	4	1	345	1	0	0	0	0	0	1	0	0	9526	1850	64	5	1327	5	MEF2C	5	88057136	Nonsense_Mutation	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	9026114	88057136	92858124	181	65042											
MCC	4163	broad.mit.edu	37	chr5	112403781	112403781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctggagacacttaccaggGgaggaccccacgcccgccgc	8	4	12	17	3	1	1	0	0	1	1	1	4	1	3	5	4	1	0	5	4	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:112403781G>A	ENST00000302475.4	-	11	2018	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S	MCC_ENST00000515367.2_Silent_p.S422S|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.S675S	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	485					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ACTTACCAGGGGAGGACCCCA	0.612													5	69					0	0	0	0	A	112403781	G	A	112403781	2	1	345	1	0	0	0	0	0	0	0	1	9442	1219	43	4		4	MCC	5	112403781	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	24346645	112403781	68511479	182	65043											
FBN2	2201	broad.mit.edu	37	chr5	127728910	127728910	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaaagccattgcctccaggGatggggatgaagcctgtccc	10	7	13	11	0	0	1	0	1	0	0	2	4	2	3	5	3	3	0	5	3	3	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:127728910G>T	ENST00000508053.1	-	16	2357	c.1383C>A	c.(1381-1383)atC>atA	p.I461I	FBN2_ENST00000508989.1_Silent_p.I428I|FBN2_ENST00000262464.4_Silent_p.I461I			P35556	FBN2_HUMAN	fibrillin 2	461					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCCTCCAGGGATGGGGATGA	0.602													11	144					9.70103e-10	9.92729e-10	1	0	T	127728910	G	T	127728910	2	4	345	1	0	0	0	0	0	0	0	1	5748	1164	41	2		2	FBN2	5	127728910	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	15325129	127728910	53186350	183	65044											
TRPC7	57113	broad.mit.edu	37	chr5	135693001	135693001	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtaggcgggaccccggatGgcctggcgacggcccttctc	5	7	15	14	4	1	0	0	0	1	0	2	3	1	2	4	6	0	1	4	6	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:135693001G>A	ENST00000513104.1	-	2	357	c.75C>T	c.(73-75)gcC>gcT	p.A25A	TRPC7_ENST00000426057.2_Silent_p.A25A|TRPC7_ENST00000355180.3_Silent_p.A25A	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	25					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACCCCGGATGGCCTGGCGAC	0.607													9	143					0	0	0	0	A	135693001	G	A	135693001	2	1	345	1	0	0	0	0	0	0	0	1	16679	1335	47	4		4	TRPC7	5	135693001	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	7964091	135693001	45222259	184	65045											
CDC25C	995	broad.mit.edu	37	chr5	137627761	137627761	+	Frame_Shift_Del	DEL	G	G	-																															ttcagtcttggcctgttcaaGttctctggcatcgacgggga																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:137627761delG	ENST00000323760.6	-	8	938	c.660delC	c.(658-660)aafs	p.N220fs	CDC25C_ENST00000357274.3_Frame_Shift_Del_p.N177fs|CDC25C_ENST00000356505.3_Frame_Shift_Del_p.N190fs|CDC25C_ENST00000415130.2_Frame_Shift_Del_p.N147fs|CDC25C_ENST00000348983.3_Frame_Shift_Del_p.N147fs|CDC25C_ENST00000514555.1_Frame_Shift_Del_p.N190fs|CDC25C_ENST00000513970.1_Frame_Shift_Del_p.N220fs	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	220					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCTGTTCAAGTTCTCTGGCA	0.448													8	203	---	---	---	---					-	137627761	G	-	137627761	7	5	345	1	0	1	0	1	0	0	0	0	3093	1020	36	0	789	0	CDC25C	5	137627761	Frame_Shift_Del	DEL	G	TCGA-CV-A468-01A-11D-A25Y-08	1934760	137627761	43287499	185	65046											
UBE2D2	7322	broad.mit.edu	37	chr5	138994175	138994175	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttgttatttttcagtgttCcattggcaagctacaataat	10	18	6	7	0	2	0	1	0	1	0	3	0	3	0	1	1	2	4	1	1	5	8			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:138994175C>T	ENST00000253815.2	+	4	883	c.6C>T	c.(4-6)ttC>ttT	p.F2F	UBE2D2_ENST00000505548.1_Silent_p.F2F|UBE2D2_ENST00000398733.3_Silent_p.F31F|UBE2D2_ENST00000511725.1_Silent_p.F2F	NM_181838.1	NP_862821.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	31					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|protein binding|ubiquitin-protein ligase activity	p.F31L(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTCAGTGTTCCATTGGCAAG	0.303													6	113					0	0	0	0	T	138994175	C	T	138994175	2	4	345	1	0	0	0	0	0	0	0	1	16945	854	30	2		2	UBE2D2	5	138994175	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1366414	138994175	41921085	186	65047											
PCDHA9	9752	broad.mit.edu	37	chr5	140228278	140228278	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgcgcctgttccagttGgattccaaaggccgcgggga	6	8	15	12	4	0	0	0	0	0	0	2	2	2	2	5	4	1	2	5	4	1	3	rs71588635		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:140228278G>A	ENST00000378122.3	+	1	922	c.198G>A	c.(196-198)ttG>ttA	p.L66L	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.L66L|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCCAGTTGGATTCCAAAG	0.637													15	308					0	0	0	0	A	140228278	G	A	140228278	2	1	345	1	0	0	0	0	0	0	0	1	11602	1339	47	4		4	PCDHA9	5	140228278	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1234103	140228278	40686982	187	65048											
PCDHB1	29930	broad.mit.edu	37	chr5	140431755	140431755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acatccacgtggtggttctgGatgtcaacgaccacgtgccc	8	9	11	13	3	2	0	1	0	1	0	3	2	3	1	3	3	2	1	3	3	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:140431755G>A	ENST00000306549.3	+	1	777	c.700G>A	c.(700-702)Gat>Aat	p.D234N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		234	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTTCTGGATGTCAACGA	0.602													6	50					0	0	0	0	A	140431755	G	A	140431755	3	1	345	1	0	0	0	0	1	0	0	0	11605	1174	41	2	702	2	PCDHB1	5	140431755	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	203477	140431755	40483505	188	65049											
PCDHB11	56125	broad.mit.edu	37	chr5	140580531	140580531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcccattcgtgctaaaatCttcagttgagaattactaca	12	13	5	11	1	2	1	1	1	1	1	4	2	3	1	2	0	3	2	2	0	5	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:140580531C>T	ENST00000354757.3	+	1	1184	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S30F	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		395	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTAAAATCTTCAGTTGAG	0.458													7	172					0	0	0	0	T	140580531	C	T	140580531	3	4	345	1	0	0	0	0	1	0	0	0	11607	913	32	2	1186	2	PCDHB11	5	140580531	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	148776	140580531	40334729	189	65050											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802483	140802483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacgacaatgcgcccgagatCctgtaccctgccctccccac	9	6	7	19	3	0	1	0	0	0	1	2	3	2	1	6	0	4	1	6	0	3	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:140802483C>T	ENST00000398587.2	+	1	1722	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Silent_p.I563I|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCGAGATCCTGTACCCTG	0.647													16	274					0	0	0	0	T	140802483	C	T	140802483	2	4	345	1	0	0	0	0	0	0	0	1	11623	845	30	2		2	PCDHGA11	5	140802483	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	221952	140802483	40112777	190	65051											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812167	140812167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcaaggccagcgagcCgggactcttctcggtgggtc	5	9	14	13	3	4	0	1	0	3	0	6	2	4	1	2	4	3	1	2	4	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:140812167C>T	ENST00000252085.3	+	1	1983	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L	PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGCGAGCCGGGACTCTTC	0.682													14	172					0	0	0	0	T	140812167	C	T	140812167	3	4	345	1	0	0	0	0	1	0	0	0	11624	652	23	1	1843	1	PCDHGA12	5	140812167	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	9684	140812167	40103093	191	65052											
PCDH1	5097	broad.mit.edu	37	chr5	141248194	141248194	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcctcataggagggccgCtcaaacttgggggcgttgtc	6	9	15	11	3	2	0	2	0	0	0	4	1	2	1	2	5	1	2	2	5	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:141248194C>T	ENST00000287008.3	-	2	990	c.843G>A	c.(841-843)gaG>gaA	p.E281E	PCDH1_ENST00000456271.1_Silent_p.E269E|PCDH1_ENST00000503492.1_Silent_p.E281E|PCDH1_ENST00000394536.3_Silent_p.E281E|PCDH1_ENST00000536585.1_Silent_p.E259E	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	281	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AGGAGGGCCGCTCAAACTTGG	0.617													5	60					0	0	0	0	T	141248194	C	T	141248194	2	4	345	1	0	0	0	0	0	0	0	1	11577	796	28	4		4	PCDH1	5	141248194	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	436027	141248194	39667066	192	65053											
TCOF1	6949	broad.mit.edu	37	chr5	149759182	149759182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggggctgccccaacacctCctgggaagacagggccttcg	9	5	13	14	1	0	1	0	0	0	1	2	2	1	2	5	4	2	1	5	4	3	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:149759182C>T	ENST00000451292.1	+	17	2854	c.2746C>T	c.(2746-2748)Cct>Tct	p.P916S	TCOF1_ENST00000513346.1_Missense_Mutation_p.P916S|TCOF1_ENST00000377797.3_Missense_Mutation_p.P916S|TCOF1_ENST00000323668.7_Missense_Mutation_p.P839S|TCOF1_ENST00000504761.2_Missense_Mutation_p.P916S|TCOF1_ENST00000394269.3_Missense_Mutation_p.P916S|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000439160.2_Missense_Mutation_p.P916S|TCOF1_ENST00000445265.2_Missense_Mutation_p.P839S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	916					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAACACCTCCTGGGAAGAC	0.627													8	132					0	0	0	0	T	149759182	C	T	149759182	3	4	345	1	0	0	0	0	1	0	0	0	15802	855	30	2	2812	2	TCOF1	5	149759182	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	8510988	149759182	31156078	193	65054											
FAT2	2196	broad.mit.edu	37	chr5	150911397	150911397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccaggtcagaggcacGgaccgtgagctccagtggtg	7	6	17	11	2	1	2	1	1	0	1	2	3	2	3	3	5	2	2	3	5	0	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:150911397G>A	ENST00000261800.5	-	13	9574	c.9562C>T	c.(9562-9564)Cgt>Tgt	p.R3188C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3188	Cadherin 28.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAGGCACGGACCGTGAGC	0.642													11	142					0	0	0	0	A	150911397	G	A	150911397	3	1	345	1	0	0	0	0	1	0	0	0	5735	1116	39	1	3531	1	FAT2	5	150911397	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1152215	150911397	30003863	194	65055											
LARP1	23367	broad.mit.edu	37	chr5	154173241	154173241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcacgccccactcgcccaCcggagcctagacacatacct	9	6	6	20	3	1	1	1	0	0	1	2	2	1	2	6	1	2	0	6	1	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:154173241C>T	ENST00000336314.4	+	5	619	c.595C>T	c.(595-597)Ccg>Tcg	p.P199S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	276							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CACTCGCCCACCGGAGCCTAG	0.547													13	322					0	0	0	0	T	154173241	C	T	154173241	3	4	345	1	0	0	0	0	1	0	0	0	8681	507	18	4	613	4	LARP1	5	154173241	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3261844	154173241	26742019	195	65056											
MRPL22	29093	broad.mit.edu	37	chr5	154320689	154320689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agatggcggcggcagtactgGgacagttgggtaaggatttc	9	9	17	6	2	0	1	0	0	0	1	1	3	0	3	0	6	1	4	0	6	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:154320689G>A	ENST00000523037.1	+	1	60	c.19G>A	c.(19-21)Gga>Aga	p.G7R	MRPL22_ENST00000265229.8_5'UTR|MRPL22_ENST00000522038.1_Missense_Mutation_p.G7R|MRPL22_ENST00000439747.3_Missense_Mutation_p.G7R	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	7					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCAGTACTGGGACAGTTGGG	0.542													8	177					0	0	0	0	A	154320689	G	A	154320689	3	1	345	1	0	0	0	0	1	0	0	0	9858	1233	43	4	21	4	MRPL22	5	154320689	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	147448	154320689	26594571	196	65057											
ADAM19	8728	broad.mit.edu	37	chr5	156991411	156991411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggtccaggatcagttctCgcccctcagccattaccctg	7	9	8	17	1	3	0	2	0	1	0	5	1	4	1	6	2	2	1	6	2	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:156991411C>T	ENST00000257527.4	-	3	299	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Missense_Mutation_p.R74Q|ADAM19_ENST00000394020.1_Missense_Mutation_p.R76Q	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	74					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATCAGTTCTCGCCCCTCAGC	0.502													5	68					0	0	0	0	T	156991411	C	T	156991411	3	4	345	1	0	0	0	0	1	0	0	0	240	884	31	1	2619	1	ADAM19	5	156991411	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2670722	156991411	23923849	197	65058											
DOCK2	1794	broad.mit.edu	37	chr5	169127106	169127106	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggacaggaccaccgtggtGgccaggaagctgggattccc	8	6	16	11	1	0	0	0	0	0	0	1	4	1	4	4	6	1	1	4	6	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:169127106G>A	ENST00000256935.8	+	13	1301	c.1221G>A	c.(1219-1221)gtG>gtA	p.V407V		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	407					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACCGTGGTGGCCAGGAAGC	0.552													10	227					0	0	0	0	A	169127106	G	A	169127106	2	1	345	1	0	0	0	0	0	0	0	1	4723	1335	47	4		4	DOCK2	5	169127106	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	12135695	169127106	11788154	198	65059											
DOCK2	1794	broad.mit.edu	37	chr5	169502955	169502955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accactttctctccagatccCcttcttgggagctgggatta	7	13	8	13	0	2	1	0	0	2	1	5	3	4	3	4	2	1	1	4	2	1	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:169502955C>T	ENST00000256935.8	+	47	4813	c.4733C>T	c.(4732-4734)cCc>cTc	p.P1578L	DOCK2_ENST00000520908.1_Missense_Mutation_p.P1070L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.P639L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1578	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCAGATCCCCTTCTTGGGA	0.537													17	234					0	0	0	0	T	169502955	C	T	169502955	3	4	345	1	0	0	0	0	1	0	0	0	4723	623	22	4	4919	4	DOCK2	5	169502955	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	375849	169502955	11412305	199	65060											
STK10	6793	broad.mit.edu	37	chr5	171544572	171544572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgtgcaggaagttgaGggcttctagcatctggcggc	6	11	15	9	1	2	1	0	1	2	0	2	2	2	2	0	4	3	5	0	4	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:171544572G>A	ENST00000176763.5	-	4	776	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	145	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGAAGTTGAGGGCTTCTAGC	0.567													7	98					0	0	0	0	A	171544572	G	A	171544572	3	1	345	1	0	0	0	0	1	0	0	0	15376	1000	35	4	2537	4	STK10	5	171544572	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2041617	171544572	9370688	200	65061											
CDHR2	54825	broad.mit.edu	37	chr5	176017686	176017686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttcgtgtgtgtgcggaaGaggtgcggctcccattgccc	4	10	15	12	3	0	1	0	0	0	1	2	2	1	2	3	3	3	1	3	3	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:176017686G>A	ENST00000510636.1	+	28	3811	c.3537G>A	c.(3535-3537)aaG>aaA	p.K1179K	CDHR2_ENST00000261944.5_Silent_p.K1179K|CDHR2_ENST00000506348.1_Silent_p.K1179K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1179					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTGTGCGGAAGAGGTGCGGCT	0.587													7	97					0	0	0	0	A	176017686	G	A	176017686	2	1	345	1	0	0	0	0	0	0	0	1	3148	933	33	2		2	CDHR2	5	176017686	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	4473114	176017686	4897574	201	65062											
NSD1	64324	broad.mit.edu	37	chr5	176665274	176665274	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaaagccttctagccCgaggtcgatctagtgctcag	11	8	12	10	2	3	1	1	0	2	1	4	4	3	2	2	2	3	1	2	2	4	3	rs121908070		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr5:176665274C>T	ENST00000439151.2	+	7	4003	c.3958C>T	c.(3958-3960)Cga>Tga	p.R1320*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1051*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1051*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1217*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1320					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTTCTAGCCCGAGGTCGATC	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	184					0	0	0	0	T	176665274	C	T	176665274	4	4	345	1	0	0	0	0	0	1	0	0	10740	644	23	1	3980	1	NSD1	5	176665274	Nonsense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	647588	176665274	4249986	202	65063											
OR2B6	26212	broad.mit.edu	37	chr6	27925718	27925718	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatacagtctgctgaaggtCgacaaaaagcatttgggaca	14	8	12	7	1	1	1	0	1	1	0	2	4	1	3	0	3	3	2	0	3	4	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:27925718C>T	ENST00000244623.1	+	1	700	c.700C>T	c.(700-702)Cga>Tga	p.R234*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCTGAAGGTCGACAAAAAGC	0.453													9	210					0	0	0	0	T	27925718	C	T	27925718	4	4	345	1	0	0	0	0	0	1	0	0	11062	876	31	1	702	1	OR2B6	6	27925718	Nonsense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08		27925718	143189349	203	65064											
OR14J1	442191	broad.mit.edu	37	chr6	29275338	29275338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagtcatttatagcttacGgaatgattccatgaaggcag	12	12	9	8	1	1	2	1	2	0	0	3	3	3	3	2	2	2	2	2	2	5	5	rs147619517		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:29275338G>A	ENST00000377160.2	+	1	936	c.872G>A	c.(871-873)cGg>cAg	p.R291Q		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TATAGCTTACGGAATGATTCC	0.428													7	154					0	0	0	0	A	29275338	G	A	29275338	3	1	345	1	0	0	0	0	1	0	0	0	11019	1116	39	1	874	1	OR14J1	6	29275338	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1349620	29275338	141839729	204	65065											
MDC1	9656	broad.mit.edu	37	chr6	30672641	30672641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttcaggggtcttcacagagGacctatttgtcctgcccctg	6	13	10	12	0	3	1	2	0	1	1	4	2	4	2	4	3	1	0	4	3	1	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:30672641G>A	ENST00000376406.3	-	10	4966	c.4319C>T	c.(4318-4320)tCc>tTc	p.S1440F	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S1176F	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1440	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTCACAGAGGACCTATTTGT	0.597								Other conserved DNA damage response genes					11	226					0	0	0	0	A	30672641	G	A	30672641	3	1	345	1	0	0	0	0	1	0	0	0	9472	1174	41	2	1974	2	MDC1	6	30672641	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1397303	30672641	140442426	205	65066											
FLOT1	10211	broad.mit.edu	37	chr6	30709056	30709056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcctccgtcttccccaGgaacatctgacaggcggccg	7	7	10	17	3	3	1	1	1	2	0	5	2	5	2	5	3	2	0	5	3	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:30709056G>A	ENST00000376389.3	-	5	485	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	FLOT1_ENST00000456573.2_Intron|FLOT1_ENST00000470643.1_5'UTR	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	89						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						GTCTTCCCCAGGAACATCTGA	0.582													9	138					0	0	0	0	A	30709056	G	A	30709056	2	1	345	1	0	0	0	0	0	0	0	1	5981	991	35	4		4	FLOT1	6	30709056	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	36415	30709056	140406011	206	65067											
VARS2	57176	broad.mit.edu	37	chr6	30890007	30890007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccagctcacagggcagctgCccttcagcaaggtaagagcc	10	5	11	15	0	2	1	2	0	0	1	2	1	2	1	3	2	5	5	3	2	2	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:30890007C>T	ENST00000321897.5	+	19	2553	c.1921C>T	c.(1921-1923)Ccc>Tcc	p.P641S	VARS2_ENST00000542001.1_Missense_Mutation_p.P501S|VARS2_ENST00000541562.1_Missense_Mutation_p.P671S|VARS2_ENST00000416670.2_Missense_Mutation_p.P641S|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	641					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGGGCAGCTGCCCTTCAGCAA	0.572													12	139					0	0	0	0	T	30890007	C	T	30890007	3	4	345	1	0	0	0	0	1	0	0	0	17220	739	26	4	2089	4	VARS2	6	30890007	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	180951	30890007	140225060	207	65068											
COL11A2	1302	broad.mit.edu	37	chr6	33137856	33137856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacccaggttcccaacacCtcctgggggaccttgtgggc	6	7	14	14	0	0	0	0	0	0	0	2	2	2	2	5	5	1	1	5	5	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:33137856C>T	ENST00000341947.2	-	49	3831	c.3604G>A	c.(3604-3606)Ggt>Agt	p.G1202S	COL11A2_ENST00000374713.1_Missense_Mutation_p.G1155S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1116S|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1181S|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1121S|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1176S|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1095S|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1142S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1202	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						TTCCCAACACCTCCTGGGGGA	0.562													6	105					0	0	0	0	T	33137856	C	T	33137856	3	4	345	1	0	0	0	0	1	0	0	0	3698	681	24	4	1678	4	COL11A2	6	33137856	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2247849	33137856	137977211	208	65069											
B3GALT4	8705	broad.mit.edu	37	chr6	33246189	33246189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaaattcctgctgacgtcCcacaggctggacccctggaa	9	7	12	13	1	0	1	0	1	0	0	2	4	2	4	4	4	1	2	4	4	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:33246189C>T	ENST00000451237.1	+	1	1273	c.993C>T	c.(991-993)tcC>tcT	p.S331S		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	331					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TGCTGACGTCCCACAGGCTGG	0.632													12	181					0	0	0	0	T	33246189	C	T	33246189	2	4	345	1	0	0	0	0	0	0	0	1	1253	610	22	4		4	B3GALT4	6	33246189	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	108333	33246189	137868878	209	65070											
ITPR3	3710	broad.mit.edu	37	chr6	33658769	33658769	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcaatggccgctccatcCtgctgacagccctgctggcc	5	7	10	19	2	0	1	0	1	0	0	2	1	2	1	6	2	3	4	6	2	1	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:33658769C>T	ENST00000374316.5	+	53	8168	c.7108C>T	c.(7108-7110)Ctg>Ttg	p.L2370L	ITPR3_ENST00000605930.1_Silent_p.L2370L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2370					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCGCTCCATCCTGCTGACAGC	0.577													6	87					0	0	0	0	T	33658769	C	T	33658769	2	4	345	1	0	0	0	0	0	0	0	1	7975	680	24	4		4	ITPR3	6	33658769	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	412580	33658769	137456298	210	65071											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34789448	34789448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggttcactaagaatctttcCccagacaaaatcaacctgag	15	9	6	11	0	3	3	2	1	1	2	4	3	4	3	3	1	1	1	3	1	5	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:34789448C>T	ENST00000192788.5	+	2	234	c.63C>T	c.(61-63)tcC>tcT	p.S21S	UHRF1BP1_ENST00000452449.2_Silent_p.S21S	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	21										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGAATCTTTCCCCAGACAAAA	0.443													4	66					0	0	0	0	T	34789448	C	T	34789448	2	4	345	1	0	0	0	0	0	0	0	1	17064	610	22	4		4	UHRF1BP1	6	34789448	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1130679	34789448	136325619	211	65072											
FGD2	221472	broad.mit.edu	37	chr6	36989323	36989323	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attgaccaaatcgagaagcgGaatgaaaccttcaaggctgc	15	7	10	9	2	1	3	1	2	0	1	2	5	1	4	2	2	3	1	2	2	5	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:36989323G>A	ENST00000274963.8	+	12	1440	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	423					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCGAGAAGCGGAATGAAACCT	0.597											OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36					0	0	0	0	A	36989323	G	A	36989323	2	1	345	1	0	0	0	0	0	0	0	1	5878	1161	41	2		2	FGD2	6	36989323	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2199875	36989323	134125744	212	65073											
DNAH8	1769	broad.mit.edu	37	chr6	38899708	38899708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtcagtcattgatttcaCtgttacaatgaaaggacttg	13	13	8	7	1	3	2	3	2	0	0	3	3	3	3	0	1	2	1	0	1	4	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:38899708C>T	ENST00000359357.3	+	74	10999	c.10745C>T	c.(10744-10746)aCt>aTt	p.T3582I	DNAH8_ENST00000449981.2_Missense_Mutation_p.T3799I|RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.T3546I|RP1-207H1.3_ENST00000416948.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTGATTTCACTGTTACAATG	0.343													8	126					0	0	0	0	T	38899708	C	T	38899708	3	4	345	1	0	0	0	0	1	0	0	0	4643	565	20	4	11031	4	DNAH8	6	38899708	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1910385	38899708	132215359	213	65074											
TFEB	7942	broad.mit.edu	37	chr6	41653837	41653837	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggaccagacctggatacgGagccagagctgcttgttggt	9	8	14	10	1	0	2	0	0	0	2	0	5	0	5	3	4	4	3	3	4	1	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:41653837G>A	ENST00000230323.4	-	9	1243	c.942C>T	c.(940-942)ctC>ctT	p.L314L	TFEB_ENST00000403298.4_Silent_p.L314L|TFEB_ENST00000373033.1_Silent_p.L314L|TFEB_ENST00000420312.1_Silent_p.L229L|TFEB_ENST00000358871.2_Silent_p.L328L	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	314	Leucine-zipper.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CCTGGATACGGAGCCAGAGCT	0.542			T	ALPHA	renal (childhood epithelioid)								5	90					0	0	0	0	A	41653837	G	A	41653837	2	1	345	1	0	0	0	0	0	0	0	1	15895	1161	41	2		2	TFEB	6	41653837	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2754129	41653837	129461230	214	65075											
TJAP1	93643	broad.mit.edu	37	chr6	43472550	43472550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatttgcacagtggtcaaGaggccgccagcccaggtcct	10	7	11	13	1	1	1	1	0	0	1	2	1	2	1	4	3	3	1	4	3	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:43472550G>A	ENST00000372444.2	+	11	1034	c.601G>A	c.(601-603)Gag>Aag	p.E201K	TJAP1_ENST00000259751.1_Missense_Mutation_p.E201K|TJAP1_ENST00000436109.2_Missense_Mutation_p.E201K|TJAP1_ENST00000438588.2_Missense_Mutation_p.E211K|TJAP1_ENST00000372452.1_Missense_Mutation_p.E201K|TJAP1_ENST00000372445.5_Missense_Mutation_p.E211K|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372449.1_Missense_Mutation_p.E211K	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	211						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGTGGTCAAGAGGCCGCCAG	0.562													10	211					0	0	0	0	A	43472550	G	A	43472550	3	1	345	1	0	0	0	0	1	0	0	0	16022	943	33	2	661	2	TJAP1	6	43472550	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1818713	43472550	127642517	215	65076											
MEP1A	4224	broad.mit.edu	37	chr6	46806750	46806750	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgctttcttctacacgggGgagcgctgtcaggccgtgca	6	10	13	12	3	3	0	1	0	2	0	3	1	3	1	1	3	4	3	1	3	1	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:46806750G>A	ENST00000230588.4	+	14	2127	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	706	EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCTACACGGGGGAGCGCTGTC	0.592													7	169					0	0	0	0	A	46806750	G	A	46806750	2	1	345	1	0	0	0	0	0	0	0	1	9544	1219	43	4		4	MEP1A	6	46806750	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3334200	46806750	124308317	216	65077											
BAI3	577	broad.mit.edu	37	chr6	70071204	70071204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tattgcactacaaagtaaacCctgaattcaatatgaatccc	16	11	4	10	0	1	2	1	2	0	0	2	2	2	2	2	0	3	2	2	0	9	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:70071204C>T	ENST00000370598.1	+	29	4860	c.4039C>T	c.(4039-4041)Cct>Tct	p.P1347S	BAI3_ENST00000238918.8_Missense_Mutation_p.P553S|BAI3_ENST00000546190.1_Missense_Mutation_p.P311S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1347					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAAAGTAAACCCTGAATTCAA	0.403													6	113					0	0	0	0	T	70071204	C	T	70071204	3	4	345	1	0	0	0	0	1	0	0	0	1304	623	22	4	4145	4	BAI3	6	70071204	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	23264454	70071204	101043863	217	65078											
COL19A1	1310	broad.mit.edu	37	chr6	70639431	70639431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactccgtcctttgtttgatCgtcagtggcacaaacttggc	8	13	9	11	2	1	1	1	1	0	0	4	1	3	1	2	2	2	2	2	2	2	3	rs150284256	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:70639431C>T	ENST00000322773.4	+	6	607	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	169	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.R169C(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTGTTTGATCGTCAGTGGCA	0.403													7	121					0	0	0	0	T	70639431	C	T	70639431	3	4	345	1	0	0	0	0	1	0	0	0	3706	884	31	1	523	1	COL19A1	6	70639431	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	568227	70639431	100475636	218	65079											
RIMS1	22999	broad.mit.edu	37	chr6	72889506	72889506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctcctcccaggatgctgctCctcccagcgcaccaccagac	7	6	7	21	1	0	1	0	0	0	1	4	2	4	2	7	1	3	3	7	1	0	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:72889506C>T	ENST00000264839.7	+	5	700	c.700C>T	c.(700-702)Cct>Tct	p.P234S	RIMS1_ENST00000517960.1_Missense_Mutation_p.P234S|RIMS1_ENST00000348717.5_Missense_Mutation_p.P234S|RIMS1_ENST00000520567.1_Missense_Mutation_p.P234S|RIMS1_ENST00000521978.1_Missense_Mutation_p.P234S|RIMS1_ENST00000522291.1_Missense_Mutation_p.P234S|RIMS1_ENST00000491071.2_Missense_Mutation_p.P234S|RIMS1_ENST00000518273.1_Missense_Mutation_p.P234S			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	234					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)				GGATGCTGCTCCTCCCAGCGC	0.592													6	103					0	0	0	0	T	72889506	C	T	72889506	3	4	345	1	0	0	0	0	1	0	0	0	13452	855	30	2	718	2	RIMS1	6	72889506	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2250075	72889506	98225561	219	65080											
FILIP1	27145	broad.mit.edu	37	chr6	76023186	76023186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcttccattcacactggGcctaagagctctgctgtagc	7	13	8	13	0	4	1	1	0	3	1	5	1	5	1	2	1	3	3	2	1	2	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:76023186G>A	ENST00000393004.2	-	5	2583	c.2362C>T	c.(2362-2364)Ccc>Tcc	p.P788S	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.P689S|FILIP1_ENST00000237172.7_Missense_Mutation_p.P788S			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	788										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCACACTGGGCCTAAGAGCT	0.478													11	222					0	0	0	0	A	76023186	G	A	76023186	3	1	345	1	0	0	0	0	1	0	0	0	5939	1203	42	4	1287	4	FILIP1	6	76023186	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3133680	76023186	95091881	220	65081											
TTK	7272	broad.mit.edu	37	chr6	80744798	80744798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttgatagttaccggaacGaaatagcttatttgaataaa	15	13	7	6	2	1	2	0	2	1	0	1	4	1	3	1	1	3	2	1	1	9	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:80744798G>A	ENST00000509894.1	+	15	2537	c.1708G>A	c.(1708-1710)Gaa>Aaa	p.E570K	TTK_ENST00000230510.3_Missense_Mutation_p.E570K|TTK_ENST00000369798.2_Missense_Mutation_p.E571K			P33981	TTK_HUMAN	TTK protein kinase	571	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E555K(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTACCGGAACGAAATAGCTTA	0.284													9	150					0	0	0	0	A	80744798	G	A	80744798	3	1	345	1	0	0	0	0	1	0	0	0	16816	1059	37	1	1765	1	TTK	6	80744798	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	4721612	80744798	90370269	221	65082											
DOPEY1	23033	broad.mit.edu	37	chr6	83847818	83847818	+	Missense_Mutation	SNP	G	G	A																															agagtgacatgggttctccaGgatctcgaaaatctcccaat																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:83847818G>A	ENST00000349129.2	+	21	4317	c.4057G>A	c.(4057-4059)Gga>Aga	p.G1353R	DOPEY1_ENST00000369739.3_Missense_Mutation_p.G1344R|DOPEY1_ENST00000237163.5_Missense_Mutation_p.G1334R|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1353					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGGTTCTCCAGGATCTCGAAA	0.418													17	181					0	0	0	0	A	83847818	G	A	83847818	3	1	345	1	0	0	0	0	1	0	0	0	4743	1001	35	4	4131	4	DOPEY1	6	83847818	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3103020	83847818	87267249	222	65083	786	2									
DOPEY1	23033	broad.mit.edu	37	chr6	83847819	83847819	+	Missense_Mutation	SNP	G	G	A																															gagtgacatgggttctccagGatctcgaaaatctcccaatt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:83847819G>A	ENST00000349129.2	+	21	4318	c.4058G>A	c.(4057-4059)gGa>gAa	p.G1353E	DOPEY1_ENST00000369739.3_Missense_Mutation_p.G1344E|DOPEY1_ENST00000237163.5_Missense_Mutation_p.G1334E|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1353					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGTTCTCCAGGATCTCGAAAA	0.418													17	183					0	0	0	0	A	83847819	G	A	83847819	3	1	345	1	0	0	0	0	1	0	0	0	4743	1174	41	2	4132	2	DOPEY1	6	83847819	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	83847819	87267248	223	65084	786	2									
CYB5R4	51167	broad.mit.edu	37	chr6	84644345	84644345	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagtgccagttaatttcCaaggaagatgttactcatga	15	11	9	6	0	1	3	1	1	0	2	2	4	2	4	2	1	2	2	2	1	5	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:84644345C>T	ENST00000369681.4	+	11	986	c.846C>T	c.(844-846)tcC>tcT	p.S282S	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	282	FAD-binding FR-type.		S -> P (in dbSNP:rs10080628).		cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AGTTAATTTCCAAGGAAGATG	0.368													4	66					0	0	0	0	T	84644345	C	T	84644345	2	4	345	1	0	0	0	0	0	0	0	1	4161	581	21	4		4	CYB5R4	6	84644345	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	796526	84644345	86470722	224	65085											
MDN1	23195	broad.mit.edu	37	chr6	90440563	90440563	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattctgtaagtcgtactatCttggcaagcctcttgattag	9	16	8	8	1	3	1	0	1	3	0	4	1	3	1	1	1	2	3	1	1	6	8			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:90440563C>T	ENST00000369393.3	-	35	5137	c.5022G>A	c.(5020-5022)aaG>aaA	p.K1674K	MDN1_ENST00000428876.1_Silent_p.K1674K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1674					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTCGTACTATCTTGGCAAGCC	0.393													6	105					0	0	0	0	T	90440563	C	T	90440563	2	4	345	1	0	0	0	0	0	0	0	1	9484	912	32	2		2	MDN1	6	90440563	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5796218	90440563	80674504	225	65086											
EPHA7	2045	broad.mit.edu	37	chr6	94120848	94120848	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcacacctggtatgttcgtAtcggggtatagttctcatcc	7	13	11	10	2	1	0	1	0	1	0	5	0	2	0	2	4	0	6	2	4	4	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:94120848A>T	ENST00000369303.4	-	3	387	c.203T>A	c.(202-204)aTa>aAa	p.I68K	EPHA7_ENST00000369297.1_Missense_Mutation_p.I68K	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	68						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTATGTTCGTATCGGGGTATA	0.393													12	149					0	0	0	0	T	94120848	A	T	94120848	3	4	345	1	0	0	0	0	1	0	0	0	5210	449	16	5	2853	5	EPHA7	6	94120848	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	3680285	94120848	76994219	226	65087											
GRIK2	2898	broad.mit.edu	37	chr6	102483342	102483342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgattatgctttcctaatgGagtcaacaaccatcgagttt	11	14	7	9	1	1	1	1	1	0	0	3	3	2	2	2	1	3	2	2	1	4	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:102483342G>A	ENST00000369138.1	+	14	2702	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K	GRIK2_ENST00000421544.1_Missense_Mutation_p.E738K|GRIK2_ENST00000369134.4_Missense_Mutation_p.E689K|GRIK2_ENST00000413795.1_Missense_Mutation_p.E738K|GRIK2_ENST00000318991.6_Missense_Mutation_p.E738K|GRIK2_ENST00000369137.3_Missense_Mutation_p.E662K	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	738					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTTCCTAATGGAGTCAACAAC	0.478													14	299					0	0	0	0	A	102483342	G	A	102483342	3	1	345	1	0	0	0	0	1	0	0	0	6824	1175	41	2	2266	2	GRIK2	6	102483342	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	8362494	102483342	68631725	227	65088											
POPDC3	64208	broad.mit.edu	37	chr6	105606463	105606463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatcatagtgatatctttttCctatatataccctgtcattc	10	19	3	9	0	3	1	2	1	1	0	5	1	4	1	2	0	1	0	2	0	7	10			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:105606463C>T	ENST00000254765.3	-	4	1036	c.758G>A	c.(757-759)gGa>gAa	p.G253E	POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	253						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				ATATCTTTTTCCTATATATAC	0.408													11	217					0	0	0	0	T	105606463	C	T	105606463	3	4	345	1	0	0	0	0	1	0	0	0	12328	855	30	2	121	2	POPDC3	6	105606463	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3123121	105606463	65508604	228	65089											
ROS1	6098	broad.mit.edu	37	chr6	117650566	117650566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cactgtattgaatttttactCccttctagtaatttgggaat	10	18	6	7	0	1	1	0	1	1	0	2	2	2	2	1	1	1	2	1	1	6	9			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:117650566C>T	ENST00000368508.3	-	32	5490	c.5292G>A	c.(5290-5292)ggG>ggA	p.G1764G	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.G1758G	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1764	Fibronectin type-III 9.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATTTTTACTCCCTTCTAGTA	0.338			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								10	134					0	0	0	0	T	117650566	C	T	117650566	2	4	345	1	0	0	0	0	0	0	0	1	13616	842	30	2		2	ROS1	6	117650566	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	12044103	117650566	53464501	229	65090											
ROS1	6098	broad.mit.edu	37	chr6	117686800	117686800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacaccccagtctaccgcagGgggaccattccacaggattt	10	8	9	14	1	1	0	0	0	1	0	2	2	2	2	5	3	2	1	5	3	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:117686800G>A	ENST00000368508.3	-	19	3115	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P968S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	973	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTACCGCAGGGGGACCATTC	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								5	94					0	0	0	0	A	117686800	G	A	117686800	3	1	345	1	0	0	0	0	1	0	0	0	13616	1232	43	4	4226	4	ROS1	6	117686800	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	36234	117686800	53428267	230	65091											
TMEM200A	114801	broad.mit.edu	37	chr6	130762540	130762540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtcaaggaatttgtcaatgGattcccttgtggttcctttg	7	16	11	7	0	2	0	2	0	0	0	4	2	4	2	2	4	0	1	2	4	3	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:130762540G>A	ENST00000392429.1	+	2	3351	c.973G>A	c.(973-975)Gat>Aat	p.D325N	TMEM200A_ENST00000545622.1_Missense_Mutation_p.D325N|TMEM200A_ENST00000296978.3_Missense_Mutation_p.D325N	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	325						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTTGTCAATGGATTCCCTTGT	0.438													8	90					0	0	0	0	A	130762540	G	A	130762540	3	1	345	1	0	0	0	0	1	0	0	0	16217	1174	41	2	975	2	TMEM200A	6	130762540	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	13075740	130762540	40352527	231	65092											
EPB41L2	2037	broad.mit.edu	37	chr6	131277325	131277325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaacagcttgggtaggctCttttttatctcctccatctt	8	16	6	11	0	3	0	0	0	3	0	5	0	4	0	2	2	3	3	2	2	4	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:131277325C>T	ENST00000337057.3	-	2	482	c.301G>A	c.(301-303)Gag>Aag	p.E101K	EPB41L2_ENST00000525193.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E101K|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E101K|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E101K|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E101K	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	101					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGGGTAGgctcttttttatct	0.453													15	268					0	0	0	0	T	131277325	C	T	131277325	3	4	345	1	0	0	0	0	1	0	0	0	5191	922	32	2	2788	2	EPB41L2	6	131277325	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	514785	131277325	39837742	232	65093											
KIAA1244	57221	broad.mit.edu	37	chr6	138655329	138655329	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactcttataggactgccagGgagtttgacaccagccccgg	9	8	12	12	1	1	1	0	1	1	0	1	4	1	3	4	3	2	1	4	3	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:138655329G>A	ENST00000251691.4	+	33	5512	c.5346G>A	c.(5344-5346)agG>agA	p.R1782R		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1782					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)		GGACTGCCAGGGAGTTTGACA	0.557													7	41					0	0	0	0	A	138655329	G	A	138655329	2	1	345	1	0	0	0	0	0	0	0	1	8268	1223	43	4		4	KIAA1244	6	138655329	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	7378004	138655329	32459738	233	65094											
CCDC28A	25901	broad.mit.edu	37	chr6	139094866	139094866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcaggaaaaggcggggcttCcgcttggggcatggaggctg	8	6	19	8	2	0	0	0	0	0	0	1	2	1	2	1	8	1	5	1	8	2	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:139094866C>T	ENST00000332797.6	+	1	210	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	19										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GGCGGGGCTTCCGCTTGGGGC	0.627													16	225					0	0	0	0	T	139094866	C	T	139094866	3	4	345	1	0	0	0	0	1	0	0	0	2828	855	30	2	57	2	CCDC28A	6	139094866	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	439537	139094866	32020201	234	65095											
SYNE1	23345	broad.mit.edu	37	chr6	152737755	152737755	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctttgctcagagctcccGattttcagatggtattgggc	6	14	11	10	1	2	2	2	0	0	2	4	3	4	2	2	2	2	3	2	2	1	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:152737755G>A	ENST00000367255.5	-	41	6418	c.5817C>T	c.(5815-5817)atC>atT	p.I1939I	SYNE1_ENST00000448038.1_Silent_p.I1946I|SYNE1_ENST00000423061.1_Silent_p.I1946I|SYNE1_ENST00000341594.5_Silent_p.I1976I|SYNE1_ENST00000265368.4_Silent_p.I1939I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1939					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGAGCTCCCGATTTTCAGAT	0.493										HNSCC(10;0.0054)			11	176					0	0	0	0	A	152737755	G	A	152737755	2	1	345	1	0	0	0	0	0	0	0	1	15536	1048	37	1		1	SYNE1	6	152737755	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	13642889	152737755	18377312	235	65096											
SYNE1	23345	broad.mit.edu	37	chr6	152737987	152737987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacagggcaagctgccgcCtctccacaacctggctggcc	7	5	13	16	1	1	0	0	0	1	0	2	1	1	1	5	4	3	3	5	4	2	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:152737987C>T	ENST00000367255.5	-	41	6186	c.5585G>A	c.(5584-5586)aGg>aAg	p.R1862K	SYNE1_ENST00000448038.1_Missense_Mutation_p.R1869K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1869K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1899K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1862K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1862					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGCTGCCGCCTCTCCACAAC	0.597										HNSCC(10;0.0054)			7	154					0	0	0	0	T	152737987	C	T	152737987	3	4	345	1	0	0	0	0	1	0	0	0	15536	681	24	4	21305	4	SYNE1	6	152737987	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	232	152737987	18377080	236	65097											
TULP4	56995	broad.mit.edu	37	chr6	158924017	158924017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaagcccttgaggcaccctCccctgcctgaagctgctgtc	7	8	10	16	0	0	3	0	2	0	1	2	3	1	3	5	1	4	3	5	1	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:158924017C>T	ENST00000367097.3	+	13	4679	c.3322C>T	c.(3322-3324)Ccc>Tcc	p.P1108S	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1108					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GAGGCACCCTCCCCTGCCTGA	0.627													5	91					0	0	0	0	T	158924017	C	T	158924017	3	4	345	1	0	0	0	0	1	0	0	0	16872	855	30	2	3372	2	TULP4	6	158924017	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	6186030	158924017	12191050	237	65098											
PNLDC1	154197	broad.mit.edu	37	chr6	160232744	160232744	+	Missense_Mutation	SNP	C	C	A																															tcccctcagaaagctacgatCaatttaagcagaatatccac																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:160232744C>A	ENST00000275275.5	+	11	1003	c.832C>A	c.(832-834)Caa>Aaa	p.Q278K	PNLDC1_ENST00000392167.3_Missense_Mutation_p.Q289K	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	278						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AAGCTACGATCAATTTAAGCA	0.403													7	90					5.4927e-09	5.61263e-09	1	0	A	160232744	C	A	160232744	3	1	345	1	0	0	0	0	1	0	0	0	12220	827	29	2	870	2	PNLDC1	6	160232744	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1308727	160232744	10882323	238	65099	787	2									
PNLDC1	154197	broad.mit.edu	37	chr6	160232745	160232745	+	Missense_Mutation	SNP	A	A	T																															cccctcagaaagctacgatcAatttaagcagaatatccaca																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:160232745A>T	ENST00000275275.5	+	11	1004	c.833A>T	c.(832-834)cAa>cTa	p.Q278L	PNLDC1_ENST00000392167.3_Missense_Mutation_p.Q289L	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	278						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGCTACGATCAATTTAAGCAG	0.403													6	92					0	0	0	0	T	160232745	A	T	160232745	3	4	345	1	0	0	0	0	1	0	0	0	12220	130	5	5	871	5	PNLDC1	6	160232745	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	1	160232745	10882322	239	65100	787	2									
PLG	5340	broad.mit.edu	37	chr6	161173292	161173292	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcactgacagttgccaGgtaagcaaagatcaagagac	15	5	13	8	0	1	3	1	1	0	2	1	5	1	4	1	3	2	4	1	3	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr6:161173292G>A	ENST00000308192.9	+	18	2334	c.2271_splice	c.e18+1	p.Q757_splice		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	757	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACAGTTGCCAGGTAAGCAAAG	0.473													7	60					0	0	0	0	A	161173292	G	A	161173292	5	1	345	1	0	0	0	0	0	0	1	0	12158	1014	35	4	2345	4	PLG	6	161173292	Splice_Site	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	940547	161173292	9941775	240	65101											
GNA12	2768	broad.mit.edu	37	chr7	2854019	2854019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccatctggtgtgcttcccGaaccctgcaagtcaacattt	8	13	7	13	1	2	0	1	0	1	0	4	1	4	0	3	1	4	2	3	1	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:2854019G>A	ENST00000407904.3	-	2	387	c.59C>T	c.(58-60)tCg>tTg	p.S20L	GNA12_ENST00000544127.1_Intron|GNA12_ENST00000275364.3_Intron			Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	0					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TGTGCTTCCCGAACCCTGCAA	0.463													4	71					0	0	0	0	A	2854019	G	A	2854019	3	1	345	1	0	0	0	0	1	0	0	0	6551	1073	37	1		1	GNA12	7	2854019	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08		2854019	156284644	241	65102											
SDK1	221935	broad.mit.edu	37	chr7	4259832	4259832	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagggagtgacctatttcttCcgtgtccaagcgcggaccat	9	10	11	11	3	1	1	0	1	1	0	3	3	3	3	4	2	1	0	4	2	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:4259832C>T	ENST00000404826.2	+	39	5770	c.5631C>T	c.(5629-5631)ttC>ttT	p.F1877F	SDK1_ENST00000389531.3_Silent_p.F1857F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1877	Fibronectin type-III 12.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTATTTCTTCCGTGTCCAAG	0.622													11	154					0	0	0	0	T	4259832	C	T	4259832	2	4	345	1	0	0	0	0	0	0	0	1	14055	854	30	2		2	SDK1	7	4259832	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1405813	4259832	154878831	242	65103											
MIOS	54468	broad.mit.edu	37	chr7	7612474	7612474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatacccttgcctggaatcCactggatagtaactggctag	11	11	9	10	0	0	0	0	0	0	0	1	2	1	2	3	3	3	2	3	3	6	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:7612474C>T	ENST00000340080.4	+	4	789	c.368C>T	c.(367-369)cCa>cTa	p.P123L	MIOS_ENST00000405785.1_Missense_Mutation_p.P123L	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	123										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCTGGAATCCACTGGATAGT	0.393													12	221					0	0	0	0	T	7612474	C	T	7612474	3	4	345	1	0	0	0	0	1	0	0	0	9658	594	21	4	370	4	MIOS	7	7612474	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3352642	7612474	151526189	243	65104											
ICA1	3382	broad.mit.edu	37	chr7	8178638	8178638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcatgcagtatgtgtagagCctttgtctaaggcagataaa	13	11	11	6	0	1	2	0	0	1	2	1	2	1	2	1	1	3	5	1	1	5	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:8178638C>T	ENST00000402384.3	-	11	1261	c.995G>A	c.(994-996)gGc>gAc	p.G332D	ICA1_ENST00000422063.2_Missense_Mutation_p.G361D|ICA1_ENST00000265577.7_Missense_Mutation_p.G331D|ICA1_ENST00000396675.3_Missense_Mutation_p.G332D|ICA1_ENST00000406470.2_Missense_Mutation_p.G332D|ICA1_ENST00000401396.1_Missense_Mutation_p.G320D			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	332					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		p.G332D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ATGTGTAGAGCCTTTGTCTAA	0.353													7	110					0	0	0	0	T	8178638	C	T	8178638	3	4	345	1	0	0	0	0	1	0	0	0	7530	739	26	4	472	4	ICA1	7	8178638	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	566164	8178638	150960025	244	65105											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067268	18067268	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatcctctccacgcacactCtcatcaatttccacgcaggt	10	10	4	17	2	3	0	2	0	2	0	7	0	5	0	3	1	0	2	3	1	1	1	rs13231476		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:18067268C>T	ENST00000506618.2	-	1	218	c.138G>A	c.(136-138)gaG>gaA	p.E46E		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	46					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CACGCACACTCTCATCAATTT	0.483													23	306					0	0	0	0	T	18067268	C	T	18067268	2	4	345	1	0	0	0	0	0	0	0	1	12659	912	32	2		2	PRPS1L1	7	18067268	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	9888630	18067268	141071395	245	65106											
PLEKHA8	84725	broad.mit.edu	37	chr7	30084777	30084777	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgaagatgcctggaaaggTtgcaaagggagcatacaaat	15	7	12	7	0	0	2	0	1	0	1	0	4	0	4	2	3	4	3	2	3	5	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:30084777T>C	ENST00000449726.1	+	2	467	c.117T>C	c.(115-117)ggT>ggC	p.G39G	PLEKHA8_ENST00000396257.2_Silent_p.G39G|PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000396259.1_Silent_p.G39G|PLEKHA8_ENST00000258679.7_Silent_p.G39G	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	39	PH.				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CCTGGAAAGGTTGCAAAGGGA	0.403													13	172					0	0	0	0	C	30084777	T	C	30084777	2	2	345	1	0	0	0	0	0	0	0	1	12134	1712	60	5		5	PLEKHA8	7	30084777	Silent	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	12017509	30084777	129053886	246	65107											
BLVRA	644	broad.mit.edu	37	chr7	43827505	43827505	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccttgtgtttcagccCgagaggaagtttggcgtggt	5	13	15	8	2	1	1	1	0	0	1	2	3	2	2	2	4	1	2	2	4	1	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:43827505C>T	ENST00000402924.1	+	4	178	c.15C>T	c.(13-15)ccC>ccT	p.P5P	BLVRA_ENST00000265523.4_Silent_p.P5P	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	5					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	TGTTTCAGCCCGAGAGGAAGT	0.567													6	121					0	0	0	0	T	43827505	C	T	43827505	2	4	345	1	0	0	0	0	0	0	0	1	1456	639	23	1		1	BLVRA	7	43827505	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	13742728	43827505	115311158	247	65108											
NPC1L1	29881	broad.mit.edu	37	chr7	44560392	44560392	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatctgaagtcaagttCacagaggtgctgtatgctgc	9	11	12	9	0	3	2	2	1	1	1	3	2	3	2	1	2	3	4	1	2	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:44560392C>A	ENST00000289547.4	-	14	3163	c.3108G>T	c.(3106-3108)gtG>gtT	p.V1036V	NPC1L1_ENST00000546276.1_Silent_p.V990V|NPC1L1_ENST00000381160.3_Silent_p.V1036V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1036					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AAGTCAAGTTCACAGAGGTGC	0.577													6	136					3.59834e-05	3.64507e-05	1	0	A	44560392	C	A	44560392	2	1	345	1	0	0	0	0	0	0	0	1	10641	813	29	2		2	NPC1L1	7	44560392	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	732887	44560392	114578271	248	65109											
PKD1L1	168507	broad.mit.edu	37	chr7	47942079	47942079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcactgacattattgaagGcaaggacctccactgtaaat	14	9	9	9	0	0	2	0	2	0	0	1	3	1	3	2	3	0	3	2	3	5	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:47942079G>A	ENST00000289672.2	-	13	2011	c.1961C>T	c.(1960-1962)gCc>gTc	p.A654V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	654	PKD 2.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATTATTGAAGGCAAGGACCTC	0.488													4	69					0	0	0	0	A	47942079	G	A	47942079	3	1	345	1	0	0	0	0	1	0	0	0	12036	1203	42	4	6768	4	PKD1L1	7	47942079	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3381687	47942079	111196584	249	65110											
SEPT14	346288	broad.mit.edu	37	chr7	55863612	55863612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaagagaaactattatttCttacgatgtttgtctttctt	11	19	6	5	1	3	1	0	0	3	1	3	3	3	1	0	0	2	2	0	0	5	8			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:55863612C>T	ENST00000388975.3	-	10	1409	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	431					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACTATTATTTCTTACGATGTT	0.373													9	86					0	0	0	0	T	55863612	C	T	55863612	2	4	345	1	0	0	0	0	0	0	0	1	14150	912	32	2		2	SEPT14	7	55863612	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	7921533	55863612	103275051	250	65111											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73933772	73933772	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgggcgggactcgaaggcCctggtggagctgaacggtgt	6	6	20	9	4	0	1	0	1	0	0	1	4	0	3	1	7	2	1	1	7	2	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:73933772C>T	ENST00000476977.1	+	6	2330	c.639C>T	c.(637-639)gcC>gcT	p.A213A	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Silent_p.A213A|GTF2IRD1_ENST00000424337.2_Silent_p.A213A|GTF2IRD1_ENST00000455841.2_Silent_p.A245A			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	213						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACTCGAAGGCCCTGGTGGAGC	0.617													8	187					0	0	0	0	T	73933772	C	T	73933772	2	4	345	1	0	0	0	0	0	0	0	1	6918	610	22	4		4	GTF2IRD1	7	73933772	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	18070160	73933772	85204891	251	65112											
C7orf63	79846	broad.mit.edu	37	chr7	89939476	89939476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tattgctcttaaaaaactgcCcattcgaggaggagccttgc	11	11	9	10	1	1	0	0	0	1	0	2	3	1	2	2	2	5	1	2	2	4	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:89939476C>T	ENST00000389297.4	+	23	3001	c.2750C>T	c.(2749-2751)cCc>cTc	p.P917L	C7orf63_ENST00000497910.1_Missense_Mutation_p.P899L|C7orf63_ENST00000316089.8_Missense_Mutation_p.P871L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	917							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AAAAAACTGCCCATTCGAGGA	0.428													7	105					0	0	0	0	T	89939476	C	T	89939476	3	4	345	1	0	0	0	0	1	0	0	0	2432	623	22	4	2840	4	C7orf63	7	89939476	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	16005704	89939476	69199187	252	65113											
MCM7	4176	broad.mit.edu	37	chr7	99696329	99696329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatcagaggcatgaaagtggGagactggatctaggatgtga	13	8	16	4	0	2	4	1	2	1	2	2	8	2	6	0	4	0	1	0	4	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:99696329G>A	ENST00000303887.5	-	6	1237	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S	MCM7_ENST00000354230.3_Missense_Mutation_p.P22S|MCM7_ENST00000343023.6_Missense_Mutation_p.P198S	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	198					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	ATGAAAGTGGGAGACTGGATC	0.512													6	108					0	0	0	0	A	99696329	G	A	99696329	3	1	345	1	0	0	0	0	1	0	0	0	9461	1174	41	2	1607	2	MCM7	7	99696329	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	9756853	99696329	59442334	253	65114											
RELN	5649	broad.mit.edu	37	chr7	103180643	103180643	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttaatcctgaagggactgaCctgatcgataacccaggggc	11	8	12	10	1	0	3	0	3	0	0	2	5	1	4	3	3	1	1	3	3	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:103180643C>T	ENST00000428762.1	-	44	7090		c.e44+1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGGGACTGACCTGATCGATA	0.493													6	96					0	0	0	0	T	103180643	C	T	103180643	5	4	345	1	0	0	0	0	0	0	1	0	13302	521	18	4	3539	4	RELN	7	103180643	Splice_Site	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3484314	103180643	55958020	254	65115											
PNPLA8	50640	broad.mit.edu	37	chr7	108137032	108137032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtaattgtaacttacttaaGaatgttttcccatgtttgac	12	17	6	6	0	0	2	0	1	0	1	1	2	1	2	1	0	2	4	1	0	5	8			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:108137032G>C	ENST00000426128.2	-	6	1746	c.1621C>G	c.(1621-1623)Ctt>Gtt	p.L541V	PNPLA8_ENST00000436062.1_Missense_Mutation_p.L541V|PNPLA8_ENST00000422087.1_Missense_Mutation_p.L541V|PNPLA8_ENST00000388728.5_Missense_Mutation_p.L541V|PNPLA8_ENST00000257694.8_Missense_Mutation_p.L541V|PNPLA8_ENST00000453144.1_Missense_Mutation_p.L441V|PNPLA8_ENST00000483879.1_5'UTR	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	541	Patatin.				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ACTTACTTAAGAATGTTTTCC	0.264													5	74					0	0	0	0	C	108137032	G	C	108137032	3	2	345	1	0	0	0	0	1	0	0	0	12243	942	33	2	747	2	PNPLA8	7	108137032	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	4956389	108137032	51001631	255	65116											
LRRN3	54674	broad.mit.edu	37	chr7	110763756	110763756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctgtggataacctgccaGatttaagaaaaatagaagct	15	11	9	6	0	0	3	0	0	0	3	0	4	0	4	2	1	4	2	2	1	6	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:110763756G>A	ENST00000451085.1	+	4	1974	c.928G>A	c.(928-930)Gat>Aat	p.D310N	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.D310N|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.D310N	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	310						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TAACCTGCCAGATTTAAGAAA	0.398													6	133					0	0	0	0	A	110763756	G	A	110763756	3	1	345	1	0	0	0	0	1	0	0	0	9100	942	33	2	930	2	LRRN3	7	110763756	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2626724	110763756	48374907	256	65117											
PTPRZ1	5803	broad.mit.edu	37	chr7	121652102	121652102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatggtctggagcctcttCtgatagtgaatttcttttac	8	16	10	7	0	4	2	0	2	4	0	4	4	4	4	1	3	2	0	1	3	4	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:121652102C>T	ENST00000393386.2	+	12	3413	c.3002C>T	c.(3001-3003)tCt>tTt	p.S1001F	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1001					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGAGCCTCTTCTGATAGTGAA	0.423													8	182					0	0	0	0	T	121652102	C	T	121652102	3	4	345	1	0	0	0	0	1	0	0	0	12896	913	32	2	3048	2	PTPRZ1	7	121652102	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	10888346	121652102	37486561	257	65118											
IQUB	154865	broad.mit.edu	37	chr7	123101542	123101542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaaggttaatgcagttacGacaccggtatatgcggcgtg	10	10	13	8	4	0	1	0	1	0	0	0	2	0	1	1	3	3	4	1	3	5	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:123101542G>A	ENST00000466202.1	-	11	2452	c.1876C>T	c.(1876-1878)Cgt>Tgt	p.R626C	IQUB_ENST00000324698.6_Missense_Mutation_p.R626C			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	626										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATGCAGTTACGACACCGGTAT	0.368													9	85					0	0	0	0	A	123101542	G	A	123101542	3	1	345	1	0	0	0	0	1	0	0	0	7873	1058	37	1	511	1	IQUB	7	123101542	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1449440	123101542	36037121	258	65119											
ARHGEF5	7984	broad.mit.edu	37	chr7	144060432	144060432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaagtcaagggctcttgcatCcccaggaggtccaagttctg	10	9	11	11	0	3	0	1	0	2	0	5	1	5	1	3	3	1	3	3	3	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:144060432C>T	ENST00000056217.5	+	2	844	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	224					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCTCTTGCATCCCCAGGAGGT	0.567													10	270					0	0	0	0	T	144060432	C	T	144060432	3	4	345	1	0	0	0	0	1	0	0	0	911	855	30	2	672	2	ARHGEF5	7	144060432	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	20958890	144060432	15078231	259	65120											
CHPF2	54480	broad.mit.edu	37	chr7	150935357	150935357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcaccacagagatcacccCcagggcccccgggggctggc	7	4	13	17	1	2	1	2	0	0	1	2	2	2	1	5	4	0	1	5	4	0	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:150935357C>T	ENST00000035307.2	+	4	3422	c.1909C>T	c.(1909-1911)Cca>Tca	p.P637S	CHPF2_ENST00000495645.1_Missense_Mutation_p.P629S	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	637	Gly/Pro-rich.					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GAGATCACCCCCAGGGCCCCC	0.652													5	52					0	0	0	0	T	150935357	C	T	150935357	3	4	345	1	0	0	0	0	1	0	0	0	3398	623	22	4	1923	4	CHPF2	7	150935357	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	6874925	150935357	8203306	260	65121											
HTR5A	3361	broad.mit.edu	37	chr7	154875986	154875986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgggccgccctcatggtggGcatcctcattggcgtgttcg	3	10	15	13	4	2	0	2	0	0	0	4	0	3	0	3	4	0	2	3	4	0	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr7:154875986G>A	ENST00000287907.2	+	2	1439	c.863G>A	c.(862-864)gGc>gAc	p.G288D	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	288						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTCATGGTGGGCATCCTCATT	0.632													7	91					0	0	0	0	A	154875986	G	A	154875986	3	1	345	1	0	0	0	0	1	0	0	0	7503	1203	42	4	869	4	HTR5A	7	154875986	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3940629	154875986	4262677	261	65122											
ARHGEF10	9639	broad.mit.edu	37	chr8	1808169	1808169	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcatcgacatcacgccattCcaggaggaccagccgcccac	10	5	9	17	3	2	0	2	0	0	0	4	3	3	2	5	2	1	0	5	2	0	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:1808169C>T	ENST00000518288.1	+	5	535	c.372C>T	c.(370-372)ttC>ttT	p.F124F	ARHGEF10_ENST00000262112.6_Silent_p.F124F|ARHGEF10_ENST00000349830.3_Silent_p.F100F|ARHGEF10_ENST00000398564.1_Silent_p.F124F|ARHGEF10_ENST00000520359.1_Silent_p.F100F|ARHGEF10_ENST00000398560.1_Silent_p.F124F			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	124					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCACGCCATTCCAGGAGGACC	0.602													6	115					0	0	0	0	T	1808169	C	T	1808169	2	4	345	1	0	0	0	0	0	0	0	1	896	854	30	2		2	ARHGEF10	8	1808169	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08		1808169	144555853	262	65123											
TUSC3	7991	broad.mit.edu	37	chr8	15601076	15601076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaccatggggatggttcttCtaaatgaagcagcaacttcg	11	11	10	9	1	3	1	1	1	2	0	4	2	3	2	1	3	3	3	1	3	4	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:15601076C>T	ENST00000382020.4	+	8	1100	c.892C>T	c.(892-894)Cta>Tta	p.L298L	TUSC3_ENST00000506802.1_Silent_p.L298L|TUSC3_ENST00000503731.1_Silent_p.L298L	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	298					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GATGGTTCTTCTAAATGAAGC	0.383													10	188					0	0	0	0	T	15601076	C	T	15601076	2	4	345	1	0	0	0	0	0	0	0	1	16874	912	32	2		2	TUSC3	8	15601076	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	13792907	15601076	130762946	263	65124											
INTS10	55174	broad.mit.edu	37	chr8	19709309	19709309	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttgctccttcagactcTgacctgagtggagacctttc	7	13	9	12	0	3	4	1	2	2	2	5	6	4	4	3	1	1	1	3	1	0	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:19709309T>A	ENST00000397977.3	+	17	2524	c.2126T>A	c.(2125-2127)cTg>cAg	p.L709Q		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	709					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CTTCAGACTCTGACCTGAGTG	0.542													6	62					0	0	0	0	A	19709309	T	A	19709309	3	1	345	1	0	0	0	0	1	0	0	0	7829	1580	55	5	2192	5	INTS10	8	19709309	Missense_Mutation	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	4108233	19709309	126654713	264	65125											
XPO7	23039	broad.mit.edu	37	chr8	21857053	21857053	+	Missense_Mutation	SNP	C	C	T																															ttcctctcccacaggattacCccaagctcagccagtcttat																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:21857053C>T	ENST00000434536.1	+	24	2779	c.2677C>T	c.(2677-2679)Ccc>Tcc	p.P893S	XPO7_ENST00000433566.4_Missense_Mutation_p.P885S|XPO7_ENST00000252512.9_Missense_Mutation_p.P884S			Q9UIA9	XPO7_HUMAN	exportin 7	884					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ACAGGATTACCCCAAGCTCAG	0.458													7	164					0	0	0	0	T	21857053	C	T	21857053	3	4	345	1	0	0	0	0	1	0	0	0	17545	623	22	4	2796	4	XPO7	8	21857053	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2147744	21857053	124506969	265	65126	788	2									
XPO7	23039	broad.mit.edu	37	chr8	21857054	21857054	+	Missense_Mutation	SNP	C	C	T																															tcctctcccacaggattaccCcaagctcagccagtcttatt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:21857054C>T	ENST00000434536.1	+	24	2780	c.2678C>T	c.(2677-2679)cCc>cTc	p.P893L	XPO7_ENST00000433566.4_Missense_Mutation_p.P885L|XPO7_ENST00000252512.9_Missense_Mutation_p.P884L			Q9UIA9	XPO7_HUMAN	exportin 7	884					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CAGGATTACCCCAAGCTCAGC	0.458													9	163					0	0	0	0	T	21857054	C	T	21857054	3	4	345	1	0	0	0	0	1	0	0	0	17545	623	22	4	2797	4	XPO7	8	21857054	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1	21857054	124506968	266	65127	788	2									
DPYSL2	1808	broad.mit.edu	37	chr8	26492317	26492317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgaggccgaagccgtgaatCgtgccatcaccatcgccaac	10	6	10	15	5	1	1	1	1	0	0	4	3	1	1	5	1	3	0	5	1	3	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:26492317C>T	ENST00000311151.5	+	8	1124	c.712C>T	c.(712-714)Cgt>Tgt	p.R238C	DPYSL2_ENST00000521913.1_Missense_Mutation_p.R202C|DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000523027.1_Missense_Mutation_p.R202C	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	238					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGCCGTGAATCGTGCCATCAC	0.582													6	127					0	0	0	0	T	26492317	C	T	26492317	3	4	345	1	0	0	0	0	1	0	0	0	4783	884	31	1	742	1	DPYSL2	8	26492317	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	4635263	26492317	119871705	267	65128											
PXDNL	137902	broad.mit.edu	37	chr8	52366183	52366183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgatgttctgtaagtaaagtCcactggacgttgccacgtgc	9	12	11	9	2	1	1	0	1	1	0	2	2	2	2	2	1	2	4	2	1	3	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:52366183C>T	ENST00000356297.4	-	10	1245	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	PXDNL_ENST00000543296.1_Missense_Mutation_p.G382E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	382	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TAAGTAAAGTCCACTGGACGT	0.498													11	86					0	0	0	0	T	52366183	C	T	52366183	3	4	345	1	0	0	0	0	1	0	0	0	12930	855	30	2	3302	2	PXDNL	8	52366183	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	25873866	52366183	93997839	268	65129											
LYPLA1	10434	broad.mit.edu	37	chr8	54978369	54978369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaggcttctgcccatcCgtgcctggtggaaaaatcat	10	10	10	11	1	2	0	1	0	1	0	3	1	3	1	3	3	3	2	3	3	3	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:54978369C>T	ENST00000316963.3	-	3	299	c.106G>A	c.(106-108)Gga>Aga	p.G36R	LYPLA1_ENST00000519926.1_5'UTR|LYPLA1_ENST00000343231.6_Missense_Mutation_p.G36R|LYPLA1_ENST00000522007.1_Intron	NM_006330.2	NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	36					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity	p.G36R(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			TCTGCCCATCCGTGCCTGGTG	0.383													7	52					0	0	0	0	T	54978369	C	T	54978369	3	4	345	1	0	0	0	0	1	0	0	0	9181	661	23	1	614	1	LYPLA1	8	54978369	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2612186	54978369	91385653	269	65130											
RP1	6101	broad.mit.edu	37	chr8	55541555	55541555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaaagacaagataagtgtGatgttagtgctgtgagggac	14	9	15	3	0	0	4	0	2	0	2	0	6	0	6	0	2	1	2	0	2	4	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:55541555G>A	ENST00000220676.1	+	4	5261	c.5113G>A	c.(5113-5115)Gat>Aat	p.D1705N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1705					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGATAAGTGTGATGTTAGTGC	0.408													25	173					0	0	0	0	A	55541555	G	A	55541555	3	1	345	1	0	0	0	0	1	0	0	0	13617	1290	45	2	5123	2	RP1	8	55541555	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	563186	55541555	90822467	270	65131											
LYN	4067	broad.mit.edu	37	chr8	56879311	56879311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accaaggtggctgtgaaaacCctgaagccaggaactatgtc	13	7	11	10	0	0	2	0	2	0	0	1	3	0	3	3	3	3	1	3	3	6	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:56879311C>T	ENST00000520220.2	+	9	1039	c.765C>T	c.(763-765)acC>acT	p.T255T	LYN_ENST00000519728.1_Silent_p.T276T|LYN_ENST00000420292.1_3'UTR	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	276	Protein kinase.				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|T cell costimulation	cytosol|Golgi apparatus|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)			CTGTGAAAACCCTGAAGCCAG	0.498													5	63					0	0	0	0	T	56879311	C	T	56879311	2	4	345	1	0	0	0	0	0	0	0	1	9172	610	22	4		4	LYN	8	56879311	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1337756	56879311	89484711	271	65132											
PLAG1	5324	broad.mit.edu	37	chr8	57079617	57079617	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgactcttcttcatatgtcGagtcaggtgatcctttcgcc	6	15	9	11	2	4	2	2	2	2	0	7	3	5	2	2	1	0	0	2	1	1	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:57079617G>A	ENST00000316981.3	-	5	1167	c.688C>T	c.(688-690)Cga>Tga	p.R230*	PLAG1_ENST00000429357.2_Nonsense_Mutation_p.R230*|PLAG1_ENST00000423799.2_Nonsense_Mutation_p.R148*	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	230	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TTCATATGTCGAGTCAGGTGA	0.463			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								22	144					0	0	0	0	A	57079617	G	A	57079617	4	1	345	1	0	0	0	0	0	1	0	0	12090	1066	37	1	818	1	PLAG1	8	57079617	Nonsense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	200306	57079617	89284405	272	65133											
PLAG1	5324	broad.mit.edu	37	chr8	57080774	57080774	+	Missense_Mutation	SNP	G	G	A																															acgcttacgtttccctgaagGgactttctgggtatctctta																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:57080774G>A	ENST00000316981.3	-	4	534	c.55C>T	c.(55-57)Cct>Tct	p.P19S	PLAG1_ENST00000429357.2_Missense_Mutation_p.P19S|PLAG1_ENST00000423799.2_Intron	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	19	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TTCCCTGAAGGGACTTTCTGG	0.458			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								6	85					0	0	0	0	A	57080774	G	A	57080774	3	1	345	1	0	0	0	0	1	0	0	0	12090	1232	43	4	1455	4	PLAG1	8	57080774	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1157	57080774	89283248	273	65134	789	2									
PLAG1	5324	broad.mit.edu	37	chr8	57080775	57080775	+	Silent	SNP	G	G	A																															cgcttacgtttccctgaaggGactttctgggtatctcttac																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:57080775G>A	ENST00000316981.3	-	4	533	c.54C>T	c.(52-54)gtC>gtT	p.V18V	PLAG1_ENST00000429357.2_Silent_p.V18V|PLAG1_ENST00000423799.2_Intron	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	18	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCCCTGAAGGGACTTTCTGGG	0.458			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								6	84					0	0	0	0	A	57080775	G	A	57080775	2	1	345	1	0	0	0	0	0	0	0	1	12090	1161	41	2		2	PLAG1	8	57080775	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	57080775	89283247	274	65135	789	2									
ASPH	444	broad.mit.edu	37	chr8	62496584	62496584	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagtttaggcttctttttCttaactgaaagaaaaaagag	17	13	7	4	0	2	3	0	1	2	2	2	3	2	3	0	1	1	2	0	1	8	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:62496584C>T	ENST00000541428.1	-	15	1054	c.894G>A	c.(892-894)aaG>aaA	p.K298K	ASPH_ENST00000379454.4_Silent_p.K327K|ASPH_ENST00000523897.1_5'UTR	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	327	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GCTTCTTTTTCTTAACTGAAA	0.284													10	59					0	0	0	0	T	62496584	C	T	62496584	2	4	345	1	0	0	0	0	0	0	0	1	1057	912	32	2		2	ASPH	8	62496584	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5415809	62496584	83867438	275	65136											
NKAIN3	286183	broad.mit.edu	37	chr8	63492130	63492130	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagaggcagatctttgacttCcttggtttccagtgggcgcc	6	12	13	10	1	1	3	0	1	1	2	3	4	3	3	3	3	0	2	3	3	0	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:63492130C>T	ENST00000523211.1	+	2	219	c.87C>T	c.(85-87)ttC>ttT	p.F29F	NKAIN3_ENST00000328472.5_Silent_p.F29F|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	29						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TCTTTGACTTCCTTGGTTTCC	0.363													6	140					0	0	0	0	T	63492130	C	T	63492130	2	4	345	1	0	0	0	0	0	0	0	1	10507	854	30	2		2	NKAIN3	8	63492130	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	995546	63492130	82871892	276	65137											
PREX2	80243	broad.mit.edu	37	chr8	69058492	69058492	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtcggcaagctctgaaagTttacttctacattgatagtt	12	14	8	7	1	2	2	0	2	2	0	3	2	2	2	0	1	3	4	0	1	6	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:69058492T>A	ENST00000288368.4	+	34	4413	c.4136T>A	c.(4135-4137)gTt>gAt	p.V1379D		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1379					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCTCTGAAAGTTTACTTCTAC	0.328													12	84					0	0	0	0	A	69058492	T	A	69058492	3	1	345	1	0	0	0	0	1	0	0	0	12557	1725	60	5	4499	5	PREX2	8	69058492	Missense_Mutation	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	5566362	69058492	77305530	277	65138											
KCNB2	9312	broad.mit.edu	37	chr8	73849534	73849534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcaccaaagagctaggggCcccccgtttctaactctatc	10	8	9	14	1	2	1	0	0	2	1	3	2	2	1	4	2	3	3	4	2	4	4	rs149751161		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:73849534C>T	ENST00000523207.1	+	3	2532	c.1944C>T	c.(1942-1944)ggC>ggT	p.G648G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	648					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAGCTAGGGGCCCCCCGTTTC	0.587													7	135					0	0	0	0	T	73849534	C	T	73849534	2	4	345	1	0	0	0	0	0	0	0	1	8066	726	26	4		4	KCNB2	8	73849534	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	4791042	73849534	72514488	278	65139											
STAU2	27067	broad.mit.edu	37	chr8	74526035	74526035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttggcttttccaccacagGaagaggtggaagttttttaa	10	15	10	6	0	0	1	0	0	0	1	1	3	1	3	2	4	0	2	2	4	3	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:74526035G>A	ENST00000355780.5	-	8	957	c.739C>T	c.(739-741)Cct>Tct	p.P247S	STAU2_ENST00000522509.1_Missense_Mutation_p.P247S|STAU2_ENST00000524300.1_Missense_Mutation_p.P279S|STAU2_ENST00000521210.1_Missense_Mutation_p.P175S|STAU2_ENST00000519961.1_Missense_Mutation_p.P279S|STAU2_ENST00000517542.1_Missense_Mutation_p.P241S|STAU2_ENST00000521451.1_Missense_Mutation_p.P59S|STAU2_ENST00000523558.1_Missense_Mutation_p.P107S|STAU2_ENST00000522695.1_Missense_Mutation_p.P247S|STAU2_ENST00000521727.1_Missense_Mutation_p.P259S	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	279	DRBM 3.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TCCACCACAGGAAGAGGTGGA	0.378													8	75					0	0	0	0	A	74526035	G	A	74526035	3	1	345	1	0	0	0	0	1	0	0	0	15363	1174	41	2	1029	2	STAU2	8	74526035	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	676501	74526035	71837987	279	65140											
RGS22	26166	broad.mit.edu	37	chr8	101059788	101059788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacttcaggtgatttattggGagatttaggaggttgtgata	10	16	13	2	0	1	3	1	2	0	1	1	5	1	4	0	4	1	1	0	4	4	9			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:101059788G>A	ENST00000360863.6	-	11	1920	c.1726C>T	c.(1726-1728)Ccc>Tcc	p.P576S	RGS22_ENST00000523437.1_Missense_Mutation_p.P564S|RGS22_ENST00000523287.1_Missense_Mutation_p.P395S	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	576					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GATTTATTGGGAGATTTAGGA	0.383													20	105					0	0	0	0	A	101059788	G	A	101059788	3	1	345	1	0	0	0	0	1	0	0	0	13388	1174	41	2	2136	2	RGS22	8	101059788	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	26533753	101059788	45304234	280	65141											
UBR5	51366	broad.mit.edu	37	chr8	103324678	103324678	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttactggaggttcctggaaaTtttacagcaacataggcacc	12	11	9	9	0	0	0	0	0	0	0	1	2	1	2	2	4	4	3	2	4	5	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:103324678T>C	ENST00000520539.1	-	17	2649	c.2043A>G	c.(2041-2043)aaA>aaG	p.K681K	UBR5_ENST00000220959.4_Silent_p.K681K|UBR5_ENST00000521922.1_Silent_p.K675K	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	681					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCCTGGAAATTTTACAGCAA	0.383													6	128					0	0	0	0	C	103324678	T	C	103324678	2	2	345	1	0	0	0	0	0	0	0	1	17001	1490	52	5		5	UBR5	8	103324678	Silent	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	2264890	103324678	43039344	281	65142											
RIMS2	9699	broad.mit.edu	37	chr8	104922645	104922645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaggaaatgatgtactttgGtggccactctttggaagagg	12	11	13	5	0	1	2	0	1	1	1	1	4	1	4	1	5	1	1	1	5	4	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:104922645G>A	ENST00000262231.10	+	3	1393	c.1145G>A	c.(1144-1146)gGt>gAt	p.G382D	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	605					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGTACTTTGGTGGCCACTCT	0.458										HNSCC(12;0.0054)			12	115					0	0	0	0	A	104922645	G	A	104922645	3	1	345	1	0	0	0	0	1	0	0	0	13453	1276	44	4		4	RIMS2	8	104922645	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1597967	104922645	41441377	282	65143											
ZFPM2	23414	broad.mit.edu	37	chr8	106813734	106813734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaataaagtctgagccctCtagcccaagacttgcctcat	14	9	6	12	0	3	2	1	1	2	1	3	2	3	2	3	0	3	0	3	0	6	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:106813734C>T	ENST00000407775.2	+	8	1674	c.1424C>T	c.(1423-1425)tCt>tTt	p.S475F	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S206F|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S343F|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S343F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	475					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCTGAGCCCTCTAGCCCAAGA	0.443													13	134					0	0	0	0	T	106813734	C	T	106813734	3	4	345	1	0	0	0	0	1	0	0	0	17753	913	32	2	1454	2	ZFPM2	8	106813734	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1891089	106813734	39550288	283	65144											
RSPO2	340419	broad.mit.edu	37	chr8	108970359	108970359	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcctggattcagcaatggTtggacacagtattgtgtctt	8	15	10	8	0	3	0	1	0	2	0	4	2	3	2	1	3	1	3	1	3	2	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:108970359T>C	ENST00000276659.5	-	5	1185	c.565A>G	c.(565-567)Acc>Gcc	p.T189A	RSPO2_ENST00000517939.1_Missense_Mutation_p.T122A|RSPO2_ENST00000517781.1_Missense_Mutation_p.T125A|RSPO2_ENST00000378439.2_Missense_Mutation_p.T125A	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	189	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TCAGCAATGGTTGGACACAGT	0.428													32	285					0	0	0	0	C	108970359	T	C	108970359	3	2	345	1	0	0	0	0	1	0	0	0	13795	1725	60	5	174	5	RSPO2	8	108970359	Missense_Mutation	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	2156625	108970359	37393663	284	65145											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477319	110477319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccgtcccaactgtgtagCtttgggagtgacatccatct	8	12	10	11	1	1	2	0	2	1	0	3	3	3	3	3	1	2	2	3	1	2	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:110477319C>T	ENST00000378402.5	+	49	8362	c.8258C>T	c.(8257-8259)gCt>gTt	p.A2753V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2753					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACTGTGTAGCTTTGGGAGTG	0.468										HNSCC(38;0.096)			21	157					0	0	0	0	T	110477319	C	T	110477319	3	4	345	1	0	0	0	0	1	0	0	0	12044	797	28	4	8452	4	PKHD1L1	8	110477319	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1506960	110477319	35886703	285	65146											
C8orf76	84933	broad.mit.edu	37	chr8	124243864	124243864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatttgccccagttccaaGgattaaaaggatgcaaagaa	16	8	8	9	0	0	1	0	0	0	1	1	3	1	3	4	2	2	2	4	2	6	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:124243864G>A	ENST00000276704.4	-	4	542	c.491C>T	c.(490-492)cCt>cTt	p.P164L	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.P132L	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	164							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CCAGTTCCAAGGATTAAAAGG	0.453													15	205					0	0	0	0	A	124243864	G	A	124243864	3	1	345	1	0	0	0	0	1	0	0	0	2462	1000	35	4	663	4	C8orf76	8	124243864	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	13766545	124243864	22120158	286	65147											
KLHL38	340359	broad.mit.edu	37	chr8	124665031	124665031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcacgttgcggtggcaggGgatctcccgggcaccggcac	6	5	16	14	4	1	0	0	0	1	0	2	1	1	1	2	6	2	5	2	6	0	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:124665031G>A	ENST00000325995.7	-	1	159	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	46	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGGTGGCAGGGGATCTCCCGG	0.572													10	70					0	0	0	0	A	124665031	G	A	124665031	3	1	345	1	0	0	0	0	1	0	0	0	8442	1232	43	4	1621	4	KLHL38	8	124665031	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	421167	124665031	21698991	287	65148											
ADCY8	114	broad.mit.edu	37	chr8	131792969	131792969	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaggcaaagccctggtcCttcaggatgagataggtctc	11	9	11	10	0	3	1	2	1	1	1	5	3	4	2	2	4	1	1	2	4	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:131792969C>T	ENST00000286355.5	-	18	5515	c.3423G>A	c.(3421-3423)aaG>aaA	p.K1141K	ADCY8_ENST00000377928.3_Silent_p.K1010K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1141					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGCCCTGGTCCTTCAGGATGA	0.502										HNSCC(32;0.087)			21	183					0	0	0	0	T	131792969	C	T	131792969	2	4	345	1	0	0	0	0	0	0	0	1	300	680	24	4		4	ADCY8	8	131792969	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	7127938	131792969	14571053	288	65149											
TG	7038	broad.mit.edu	37	chr8	134034304	134034304	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagagtgaaggatggccGgctatcgacggctccttctt	8	9	15	9	3	1	2	0	1	1	1	3	6	2	3	2	5	0	2	2	5	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:134034304G>A	ENST00000220616.4	+	40	6985	c.6945G>A	c.(6943-6945)ccG>ccA	p.P2315P	TG_ENST00000519543.1_Silent_p.P448P|TG_ENST00000377869.1_Silent_p.P2258P|TG_ENST00000542445.1_Silent_p.P685P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2315					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGGATGGCCGGCTATCGACG	0.562													7	139					0	0	0	0	A	134034304	G	A	134034304	2	1	345	1	0	0	0	0	0	0	0	1	15907	1103	39	1		1	TG	8	134034304	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2241335	134034304	12329718	289	65150											
FAM135B	51059	broad.mit.edu	37	chr8	139158236	139158236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acattaggaagtccagttttCctccagggagccccagttct	9	11	9	12	0	1	0	0	0	1	0	4	2	4	2	5	2	1	2	5	2	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:139158236C>T	ENST00000395297.1	-	15	3676	c.3506G>A	c.(3505-3507)gGa>gAa	p.G1169E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1169										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCCAGTTTTCCTCCAGGGAG	0.453										HNSCC(54;0.14)			7	117					0	0	0	0	T	139158236	C	T	139158236	3	4	345	1	0	0	0	0	1	0	0	0	5490	855	30	2	738	2	FAM135B	8	139158236	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5123932	139158236	7205786	290	65151											
FAM135B	51059	broad.mit.edu	37	chr8	139164952	139164952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactttgcttagcccagtcCtgtctaatccatacttatct	8	15	4	14	0	2	0	0	0	2	0	4	0	4	0	4	0	3	1	4	0	4	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:139164952C>T	ENST00000395297.1	-	13	1936	c.1766G>A	c.(1765-1767)aGg>aAg	p.R589K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	589										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGCCCAGTCCTGTCTAATCC	0.448										HNSCC(54;0.14)			17	199					0	0	0	0	T	139164952	C	T	139164952	3	4	345	1	0	0	0	0	1	0	0	0	5490	681	24	4	2486	4	FAM135B	8	139164952	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	6716	139164952	7199070	291	65152											
EEF1D	1936	broad.mit.edu	37	chr8	144663268	144663268	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtggccaggcgagctcttctCcagcacgttcagccgggcct	5	8	13	15	3	3	0	1	0	2	0	4	1	3	0	4	3	3	3	4	3	0	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:144663268C>G	ENST00000532741.1	-	5	1822	c.1594G>C	c.(1594-1596)Gag>Cag	p.E532Q	EEF1D_ENST00000395119.3_Missense_Mutation_p.E116Q|EEF1D_ENST00000528610.1_Missense_Mutation_p.E92Q|EEF1D_ENST00000526838.1_Missense_Mutation_p.E97Q|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000317198.6_Missense_Mutation_p.E116Q|EEF1D_ENST00000423316.2_Missense_Mutation_p.E482Q|EEF1D_ENST00000419152.2_Missense_Mutation_p.E116Q|EEF1D_ENST00000524624.1_Missense_Mutation_p.E92Q|EEF1D_ENST00000529272.1_Missense_Mutation_p.E116Q|EEF1D_ENST00000442189.2_Missense_Mutation_p.E482Q|EEF1D_ENST00000531621.1_Missense_Mutation_p.E73Q			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	116					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GAGCTCTTCTCCAGCACGTTC	0.682													6	92					0	0	0	0	G	144663268	C	G	144663268	3	3	345	1	0	0	0	0	1	0	0	0	4962	864	30	2	515	2	EEF1D	8	144663268	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5498316	144663268	1700754	292	65153											
PLEC	5339	broad.mit.edu	37	chr8	144990493	144990493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgccgcggcgggagccgGcccgggagccggtgcgcgag	4	2	21	14	8	0	0	0	0	0	0	0	3	0	2	4	5	5	1	4	5	0	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:144990493G>A	ENST00000322810.4	-	32	14076	c.13907C>T	c.(13906-13908)gCc>gTc	p.A4636V	PLEC_ENST00000345136.3_Missense_Mutation_p.A4499V|PLEC_ENST00000356346.3_Missense_Mutation_p.A4485V|PLEC_ENST00000398774.2_Missense_Mutation_p.A4467V|PLEC_ENST00000354589.3_Missense_Mutation_p.A4499V|PLEC_ENST00000436759.2_Missense_Mutation_p.A4526V|PLEC_ENST00000354958.2_Missense_Mutation_p.A4477V|PLEC_ENST00000527096.1_Missense_Mutation_p.A4522V|PLEC_ENST00000357649.2_Missense_Mutation_p.A4503V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4636	4 X 4 AA tandem repeats of G-S-R-X.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGGGAGCCGGCCCGGGAGCC	0.716													5	23					0	0	0	0	A	144990493	G	A	144990493	3	1	345	1	0	0	0	0	1	0	0	0	12124	1203	42	4	151	4	PLEC	8	144990493	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	327225	144990493	1373529	293	65154											
PLEC	5339	broad.mit.edu	37	chr8	144995082	144995082	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaaagcaaagccggccCttctgctcctgctcctccac	7	8	6	20	1	2	0	1	0	1	0	5	0	5	0	6	1	4	3	6	1	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:144995082C>T	ENST00000322810.4	-	32	9487	c.9318G>A	c.(9316-9318)aaG>aaA	p.K3106K	PLEC_ENST00000345136.3_Silent_p.K2969K|PLEC_ENST00000356346.3_Silent_p.K2955K|PLEC_ENST00000398774.2_Silent_p.K2937K|PLEC_ENST00000354589.3_Silent_p.K2969K|PLEC_ENST00000436759.2_Silent_p.K2996K|PLEC_ENST00000354958.2_Silent_p.K2947K|PLEC_ENST00000527096.1_Silent_p.K2992K|PLEC_ENST00000357649.2_Silent_p.K2973K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3106	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAAGCCGGCCCTTCTGCTCCT	0.652													14	46					0	0	0	0	T	144995082	C	T	144995082	2	4	345	1	0	0	0	0	0	0	0	1	12124	680	24	4		4	PLEC	8	144995082	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	4589	144995082	1368940	294	65155											
LRRC14	9684	broad.mit.edu	37	chr8	145746089	145746089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggggattcaaggcagccctCcgtggatggcgaggacaact	9	7	15	10	2	1	0	1	0	0	0	2	4	2	3	2	6	2	1	2	6	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr8:145746089C>T	ENST00000292524.1	+	3	943	c.797C>T	c.(796-798)tCc>tTc	p.S266F	LRRC14_ENST00000529022.1_Missense_Mutation_p.S266F	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	266										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGGCAGCCCTCCGTGGATGGC	0.637													14	76					0	0	0	0	T	145746089	C	T	145746089	3	4	345	1	0	0	0	0	1	0	0	0	9032	855	30	2	803	2	LRRC14	8	145746089	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	751007	145746089	617933	295	65156											
KIAA2026	158358	broad.mit.edu	37	chr9	6007476	6007476	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggtggcaacgccccccaaGggctgcagaaagggggcggt	8	3	18	12	3	0	1	0	0	0	1	0	1	0	1	3	6	2	3	3	6	3	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:6007476G>A	ENST00000399933.3	-	1	311	c.312C>T	c.(310-312)ccC>ccT	p.P104P	KIAA2026_ENST00000381461.2_Silent_p.P104P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	104										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CGCCCCCCAAGGGCTGCAGAA	0.721													6	33					0	0	0	0	A	6007476	G	A	6007476	2	1	345	1	0	0	0	0	0	0	0	1	8321	987	35	4		4	KIAA2026	9	6007476	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08		6007476	135205955	296	65157											
PTPRD	5789	broad.mit.edu	37	chr9	8331682	8331682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccggactttggcactcCttgctctggccagtcagtga	5	13	10	13	1	3	1	1	1	2	0	5	2	4	2	3	3	1	2	3	3	0	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:8331682C>T	ENST00000381196.4	-	41	5977	c.5434G>A	c.(5434-5436)Gga>Aga	p.G1812R	PTPRD_ENST00000486161.1_Missense_Mutation_p.G1405R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1812R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1406R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1799R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1405R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1402R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1812R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1405R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1402R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1790R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1812	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTGGCACTCCTTGCTCTGGC	0.512										TSP Lung(15;0.13)			29	175					0	0	0	0	T	8331682	C	T	8331682	3	4	345	1	0	0	0	0	1	0	0	0	12881	690	24	4	316	4	PTPRD	9	8331682	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2324206	8331682	132881749	297	65158											
FREM1	158326	broad.mit.edu	37	chr9	14808075	14808075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcacaaaagggccagcctctCcatccgaaaccaccaatgta	14	6	6	15	1	2	0	1	0	1	0	4	1	3	0	6	1	2	1	6	1	5	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:14808075C>T	ENST00000380881.4	-	18	3769	c.2954G>A	c.(2953-2955)gGa>gAa	p.G985E	FREM1_ENST00000422223.2_Missense_Mutation_p.G984E|FREM1_ENST00000380880.3_Missense_Mutation_p.G984E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	984					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCAGCCTCTCCATCCGAAAC	0.458													25	125					0	0	0	0	T	14808075	C	T	14808075	3	4	345	1	0	0	0	0	1	0	0	0	6092	855	30	2	3722	2	FREM1	9	14808075	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	6476393	14808075	126405356	298	65159											
BNC2	54796	broad.mit.edu	37	chr9	16435641	16435641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagtgaacgttcctgtagtGaagtttcacactgtaggagc	11	11	11	8	1	1	2	1	2	0	0	2	3	2	3	1	1	2	4	1	1	5	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:16435641G>A	ENST00000380672.4	-	6	2608	c.2551C>T	c.(2551-2553)Cac>Tac	p.H851Y	BNC2_ENST00000380666.2_Missense_Mutation_p.H851Y|BNC2_ENST00000545497.1_Missense_Mutation_p.H756Y|BNC2_ENST00000380667.2_Missense_Mutation_p.H784Y	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	851					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTCCTGTAGTGAAGTTTCACA	0.478													11	108					0	0	0	0	A	16435641	G	A	16435641	3	1	345	1	0	0	0	0	1	0	0	0	1480	1290	45	2	756	2	BNC2	9	16435641	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1627566	16435641	124777790	299	65160											
IL11RA	3590	broad.mit.edu	37	chr9	34657100	34657100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acttctcttgcacttggagtCccagccagatcagcggttta	8	12	9	12	1	2	1	1	0	1	1	4	2	3	2	2	2	3	2	2	2	1	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:34657100C>T	ENST00000555003.1	+	5	1756	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S	IL11RA_ENST00000602473.1_Missense_Mutation_p.P134S|IL11RA_ENST00000441545.2_Missense_Mutation_p.P134S|GALT_ENST00000556278.1_Missense_Mutation_p.278_278insS|IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000378817.4_Missense_Mutation_p.P134S|IL11RA_ENST00000318041.9_Missense_Mutation_p.P134S			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	134	Fibronectin type-III 1.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CACTTGGAGTCCCAGCCAGAT	0.567													10	96					0	0	0	0	T	34657100	C	T	34657100	3	4	345	1	0	0	0	0	1	0	0	0	7676	855	30	2	414	2	IL11RA	9	34657100	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	18221459	34657100	106556331	300	65161											
VCP	7415	broad.mit.edu	37	chr9	35061120	35061120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatggcttgcagagcagcCtctgagcacagggctgctaa	9	7	14	11	1	1	2	0	1	1	1	1	3	1	3	1	3	5	6	1	3	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:35061120C>T	ENST00000358901.6	-	11	2146	c.1251G>A	c.(1249-1251)gaG>gaA	p.E417E		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	417					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCAGAGCAGCCTCTGAGCACA	0.512													22	261					0	0	0	0	T	35061120	C	T	35061120	2	4	345	1	0	0	0	0	0	0	0	1	17236	680	24	4		4	VCP	9	35061120	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	404020	35061120	106152311	301	65162											
VCP	7415	broad.mit.edu	37	chr9	35061622	35061622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatgttcttggtatggatCtgaagaatctctaagcgtcc	9	15	9	8	1	4	2	1	1	3	1	6	3	5	3	1	2	1	2	1	2	4	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:35061622C>T	ENST00000358901.6	-	10	2041	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	382					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGGTATGGATCTGAAGAATCT	0.483													28	168					0	0	0	0	T	35061622	C	T	35061622	2	4	345	1	0	0	0	0	0	0	0	1	17236	912	32	2		2	VCP	9	35061622	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	502	35061622	106151809	302	65163											
RECK	8434	broad.mit.edu	37	chr9	36122984	36122984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccaggccttcttgccactCcctcctccttcccctcagct	3	11	6	21	0	2	0	1	0	1	0	6	0	6	0	8	2	2	1	8	2	0	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:36122984C>T	ENST00000377966.3	+	21	3424	c.2858C>T	c.(2857-2859)tCc>tTc	p.S953F		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	953						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TCTTGCCACTCCCTCCTCCTT	0.592													12	104					0	0	0	0	T	36122984	C	T	36122984	3	4	345	1	0	0	0	0	1	0	0	0	13282	855	30	2	2940	2	RECK	9	36122984	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1061362	36122984	105090447	303	65164											
RMI1	80010	broad.mit.edu	37	chr9	86616879	86616879	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgcttttagaagaaactgtCcagaaagaacagatggaaac	17	9	9	6	0	0	5	0	0	0	5	1	6	1	6	1	1	4	1	1	1	6	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:86616879C>T	ENST00000325875.3	+	3	1310	c.978C>T	c.(976-978)gtC>gtT	p.V326V		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	326					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAGAAACTGTCCAGAAAGAAC	0.373													8	79					0	0	0	0	T	86616879	C	T	86616879	2	4	345	1	0	0	0	0	0	0	0	1	13480	842	30	2		2	RMI1	9	86616879	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	50493895	86616879	54596552	304	65165											
SYK	6850	broad.mit.edu	37	chr9	93650034	93650034	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctttgcttttaggccCagacccatggaaagtggcct	7	12	10	12	0	1	1	0	0	1	1	1	2	1	2	3	3	2	2	3	3	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:93650034C>T	ENST00000375754.4	+	12	1733	c.1585C>T	c.(1585-1587)Cag>Tag	p.Q529*	SYK_ENST00000375751.4_Nonsense_Mutation_p.Q506*|SYK_ENST00000375746.1_Nonsense_Mutation_p.Q529*|SYK_ENST00000375747.1_Nonsense_Mutation_p.Q506*	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	529	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CTTTTAGGCCCAGACCCATGG	0.488			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								21	204					0	0	0	0	T	93650034	C	T	93650034	4	4	345	1	0	0	0	0	0	1	0	0	15529	595	21	4	1627	4	SYK	9	93650034	Nonsense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	7033155	93650034	47563397	305	65166											
OMD	4958	broad.mit.edu	37	chr9	95179095	95179095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtttgtcgaagtatttttcgGgtatagaagaaattgaatta	13	16	10	2	2	0	3	0	1	0	2	2	4	0	3	0	1	0	3	0	1	8	8			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:95179095G>A	ENST00000375550.4	-	2	1021	c.746C>T	c.(745-747)cCc>cTc	p.P249L	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	249					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GTATTTTTCGGGTATAGAAGA	0.338			T	USP6	aneurysmal bone cysts								9	130					0	0	0	0	A	95179095	G	A	95179095	3	1	345	1	0	0	0	0	1	0	0	0	10936	1232	43	4	527	4	OMD	9	95179095	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1529061	95179095	46034336	306	65167											
FGD3	89846	broad.mit.edu	37	chr9	95795139	95795139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcctgacacagccagtggCccctgagagcacagaggtgg	9	7	13	12	0	0	3	0	2	0	2	1	4	1	3	4	3	2	1	4	3	0	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:95795139C>T	ENST00000375482.3	+	16	2265	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V	FGD3_ENST00000337352.6_Missense_Mutation_p.A590V|FGD3_ENST00000416701.2_Missense_Mutation_p.A590V|FGD3_ENST00000538555.1_Missense_Mutation_p.A193V	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	590					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CAGCCAGTGGCCCCTGAGAGC	0.632													8	144					0	0	0	0	T	95795139	C	T	95795139	3	4	345	1	0	0	0	0	1	0	0	0	5879	739	26	4	1823	4	FGD3	9	95795139	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	616044	95795139	45418292	307	65168											
GABBR2	9568	broad.mit.edu	37	chr9	101340229	101340229	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaccttacctgcaccagattCcagccttggagggactctgc	8	9	10	14	0	1	1	0	0	1	1	2	4	2	3	5	2	4	1	5	2	1	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:101340229C>T	ENST00000259455.2	-	2	906	c.447G>A	c.(445-447)tgG>tgA	p.W149*		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	149					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GCACCAGATTCCAGCCTTGGA	0.488													5	73					0	0	0	0	T	101340229	C	T	101340229	4	4	345	1	0	0	0	0	0	1	0	0	6204	856	30	2	2450	2	GABBR2	9	101340229	Nonsense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5545090	101340229	39873202	308	65169											
COL15A1	1306	broad.mit.edu	37	chr9	101822189	101822189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctgtggcccttccaggtcCccctggccctccaggacagc	5	7	11	18	0	0	0	0	0	0	0	3	1	3	1	6	4	2	1	6	4	0	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:101822189C>T	ENST00000375001.3	+	36	3779	c.3356C>T	c.(3355-3357)cCc>cTc	p.P1119L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1119	Triple-helical region 9 (COL9).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTTCCAGGTCCCCCTGGCCCT	0.473													10	124					0	0	0	0	T	101822189	C	T	101822189	3	4	345	1	0	0	0	0	1	0	0	0	3702	623	22	4	3498	4	COL15A1	9	101822189	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	481960	101822189	39391242	309	65170											
ALDOB	229	broad.mit.edu	37	chr9	104192063	104192063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcccaccacgatccccttttCcttgaggatgtttctgaaca	8	13	6	14	1	1	2	0	2	1	0	4	4	4	3	5	1	1	1	5	1	1	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:104192063C>T	ENST00000374855.4	-	3	422	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	100					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ATCCCCTTTTCCTTGAGGATG	0.532													13	372					0	0	0	0	T	104192063	C	T	104192063	3	4	345	1	0	0	0	0	1	0	0	0	508	864	30	2	824	2	ALDOB	9	104192063	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2369874	104192063	37021368	310	65171											
OR13F1	138805	broad.mit.edu	37	chr9	107266781	107266781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actcctcttctgccctctctCcaatgctggcaaactttgtt	6	15	5	15	0	3	0	0	0	3	0	6	0	5	0	3	1	3	3	3	1	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:107266781C>T	ENST00000334726.2	+	1	327	c.238C>T	c.(238-240)Cca>Tca	p.P80S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCCCTCTCTCCAATGCTGGC	0.507													10	161					0	0	0	0	T	107266781	C	T	107266781	3	4	345	1	0	0	0	0	1	0	0	0	11012	855	30	2	240	2	OR13F1	9	107266781	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3074718	107266781	33946650	311	65172											
ABCA1	19	broad.mit.edu	37	chr9	107560849	107560849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgcaaagatgacacagatGgacacaaggacatccactga	17	6	9	9	0	0	4	0	2	0	2	1	6	1	6	1	2	1	1	1	2	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:107560849G>A	ENST00000374736.3	-	37	5368	c.4974C>T	c.(4972-4974)tcC>tcT	p.S1658S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1658					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGACACAGATGGACACAAGGA	0.493													4	56					0	0	0	0	A	107560849	G	A	107560849	2	1	345	1	0	0	0	0	0	0	0	1	28	1335	47	4		4	ABCA1	9	107560849	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	294068	107560849	33652582	312	65173											
ACTL7B	10880	broad.mit.edu	37	chr9	111618191	111618191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagccgtgcccaggggcatgGggctgttccttgtcgccatc	4	9	15	13	2	0	0	0	0	0	0	3	1	1	0	4	4	2	3	4	4	0	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:111618191G>A	ENST00000374667.3	-	1	1048	c.20C>T	c.(19-21)cCc>cTc	p.P7L		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	7						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGGGGCATGGGGCTGTTCCT	0.667													7	103					0	0	0	0	A	111618191	G	A	111618191	3	1	345	1	0	0	0	0	1	0	0	0	201	1232	43	4	1231	4	ACTL7B	9	111618191	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	4057342	111618191	29595240	313	65174											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899178	112899178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatgctggagctggaaaagGagaggagagagctcatccgc	13	5	16	7	1	1	3	1	0	0	3	2	8	2	6	1	4	3	3	1	4	2	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:112899178G>A	ENST00000374530.3	+	8	1534	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	AKAP2_ENST00000259318.7_Missense_Mutation_p.E221K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E310K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E452K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E452K|AKAP2_ENST00000434623.2_Missense_Mutation_p.E310K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E452K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		221							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCTGGAAAAGGAGAGGAGAGA	0.512													8	94					0	0	0	0	A	112899178	G	A	112899178	3	1	345	1	0	0	0	0	1	0	0	0	11481	1175	41	2	1384	2	PALM2-AKAP2	9	112899178	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1280987	112899178	28314253	314	65175											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112900112	112900112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaccacaaactgacaaccCctcagagggccgaggagaag	15	2	11	13	1	1	3	1	1	0	2	1	6	1	3	4	2	2	0	4	2	3	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:112900112C>T	ENST00000374530.3	+	8	2468	c.2288C>T	c.(2287-2289)cCc>cTc	p.P763L	AKAP2_ENST00000259318.7_Missense_Mutation_p.P532L|AKAP2_ENST00000374525.1_Missense_Mutation_p.P621L|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P763L|AKAP2_ENST00000510514.5_Missense_Mutation_p.P763L|AKAP2_ENST00000434623.2_Missense_Mutation_p.P621L|AKAP2_ENST00000555236.1_Missense_Mutation_p.P763L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		532							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ACTGACAACCCCTCAGAGGGC	0.532													10	172					0	0	0	0	T	112900112	C	T	112900112	3	4	345	1	0	0	0	0	1	0	0	0	11481	623	22	4	2318	4	PALM2-AKAP2	9	112900112	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	934	112900112	28313319	315	65176											
SVEP1	79987	broad.mit.edu	37	chr9	113265469	113265469	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctgatgtggccatgtttCggctggcggagatgaggaca	8	9	16	8	2	0	3	0	2	0	1	1	5	0	4	1	5	1	3	1	5	0	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:113265469C>T	ENST00000401783.2	-	6	1668	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.P444P|SVEP1_ENST00000374461.1_Silent_p.P421P|SVEP1_ENST00000374469.1_Silent_p.P421P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	444	Sushi 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGCCATGTTTCGGCTGGCGGA	0.368													14	144					0	0	0	0	T	113265469	C	T	113265469	2	4	345	1	0	0	0	0	0	0	0	1	15510	871	31	1		1	SVEP1	9	113265469	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	365357	113265469	27947962	316	65177											
ZNF618	114991	broad.mit.edu	37	chr9	116811378	116811378	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttgtgcaccactgggTgcagaacgtgctgtcggagt	7	10	14	10	2	0	2	0	1	0	1	1	3	0	3	2	2	4	3	2	2	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:116811378T>C	ENST00000288466.7	+	14	1616	c.1517T>C	c.(1516-1518)gTg>gCg	p.V506A	ZNF618_ENST00000374126.5_Missense_Mutation_p.V599A|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CACCACTGGGTGCAGAACGTG	0.602													14	127					0	0	0	0	C	116811378	T	C	116811378	3	2	345	1	0	0	0	0	1	0	0	0	18137	1696	59	5	1571	5	ZNF618	9	116811378	Missense_Mutation	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	3545909	116811378	24402053	317	65178											
ASTN2	23245	broad.mit.edu	37	chr9	119202979	119202979	+	Frame_Shift_Del	DEL	A	A	-																															ctggactcggaacagcatcgAggctgagacctccatcagtg																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:119202979delA	ENST00000313400.4	-	22	3791	c.3691delT	c.(3691-3693)cgfs	p.S1231fs	ASTN2_ENST00000361477.3_Frame_Shift_Del_p.S283fs|ASTN2_ENST00000361209.2_Frame_Shift_Del_p.S1180fs|ASTN2_ENST00000341734.4_Frame_Shift_Del_p.S283fs|ASTN2_ENST00000288520.5_Frame_Shift_Del_p.S332fs|ASTN2_ENST00000373996.3_Frame_Shift_Del_p.S1227fs			O75129	ASTN2_HUMAN	astrotactin 2	1231						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AACAGCATCGAGGCTGAGACC	0.512													7	112	---	---	---	---					-	119202979	A	-	119202979	7	5	345	1	0	1	0	1	0	0	0	0	1069	304	11	0	377	0	ASTN2	9	119202979	Frame_Shift_Del	DEL	A	TCGA-CV-A468-01A-11D-A25Y-08	2391601	119202979	22010452	318	65179											
TRIM32	22954	broad.mit.edu	37	chr9	119461731	119461731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagattagccacttcttctcGgagaatgaggatttccgctg	9	12	10	10	2	2	3	0	1	2	2	4	5	3	4	2	2	1	1	2	2	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:119461731G>A	ENST00000450136.1	+	2	1871	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Silent_p.S570S|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	570					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						ACTTCTTCTCGGAGAATGAGG	0.532													4	67					0	0	0	0	A	119461731	G	A	119461731	2	1	345	1	0	0	0	0	0	0	0	1	16601	1103	39	1		1	TRIM32	9	119461731	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	258752	119461731	21751700	319	65180											
ASTN2	23245	broad.mit.edu	37	chr9	119903744	119903744	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactccactgtctcctgagtCgcctcagctgctgctataag	7	11	9	14	1	2	1	1	1	1	0	5	2	3	1	3	0	3	3	3	0	2	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:119903744C>T	ENST00000313400.4	-	4	1129	c.1029G>A	c.(1027-1029)gcG>gcA	p.A343A	ASTN2_ENST00000373996.3_Silent_p.A343A|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron			O75129	ASTN2_HUMAN	astrotactin 2	343						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCTCCTGAGTCGCCTCAGCTG	0.587													4	57					0	0	0	0	T	119903744	C	T	119903744	2	4	345	1	0	0	0	0	0	0	0	1	1069	899	31	1		1	ASTN2	9	119903744	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	442013	119903744	21309687	320	65181											
TLR4	7099	broad.mit.edu	37	chr9	120475061	120475061	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccctatgaactttatcCaaccaggtgcatttaaagaa	15	11	6	9	0	0	3	0	2	0	1	1	3	1	3	3	1	4	1	3	1	8	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:120475061C>T	ENST00000355622.6	+	3	756	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	TLR4_ENST00000394487.4_Nonsense_Mutation_p.Q179*|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	219					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.Q219K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GAACTTTATCCAACCAGGTGC	0.363													15	141					0	0	0	0	T	120475061	C	T	120475061	4	4	345	1	0	0	0	0	0	1	0	0	16047	595	21	4	665	4	TLR4	9	120475061	Nonsense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	571317	120475061	20738370	321	65182											
MORN5	254956	broad.mit.edu	37	chr9	124929171	124929171	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaatacgacgccattTgggaaaacggattggccata	14	7	11	9	3	0	0	0	0	0	0	0	4	0	2	3	3	3	0	3	3	6	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:124929171T>A	ENST00000536616.1	+	2	210	c.172T>A	c.(172-174)Tgg>Agg	p.W58R	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.W58R			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	58										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						CGACGCCATTTGGGAAAACGG	0.552													4	34					0	0	0	0	A	124929171	T	A	124929171	3	1	345	1	0	0	0	0	1	0	0	0	9781	1812	63	5	178	5	MORN5	9	124929171	Missense_Mutation	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	4454110	124929171	16284260	322	65183											
OR1J4	26219	broad.mit.edu	37	chr9	125281824	125281824	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctccgctacaccactatCatgaaagagggactgtgtaa	12	8	8	13	1	1	2	1	1	0	1	2	3	2	3	4	1	1	2	4	1	4	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:125281824C>T	ENST00000340750.1	+	1	405	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						ACACCACTATCATGAAAGAGG	0.468													19	156					0	0	0	0	T	125281824	C	T	125281824	2	4	345	1	0	0	0	0	0	0	0	1	11032	816	29	2		2	OR1J4	9	125281824	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	352653	125281824	15931607	323	65184											
OR1N2	138882	broad.mit.edu	37	chr9	125315733	125315733	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtttcacttctgcctccatCcccaaaatgctggccaacat	9	12	5	15	0	2	0	1	0	1	0	4	0	4	0	5	1	3	2	5	1	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:125315733C>T	ENST00000373688.2	+	1	343	c.285C>T	c.(283-285)atC>atT	p.I95I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTGCCTCCATCCCCAAAATGC	0.478													15	229					0	0	0	0	T	125315733	C	T	125315733	2	4	345	1	0	0	0	0	0	0	0	1	11041	845	30	2		2	OR1N2	9	125315733	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	33909	125315733	15897698	324	65185											
OR1B1	347169	broad.mit.edu	37	chr9	125391097	125391097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggagactgctcggcggcGaccagcagctgaaggcaaac	10	4	16	11	3	0	2	0	1	0	1	1	4	0	2	1	5	4	4	1	5	2	0	rs138583280		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:125391097G>A	ENST00000304833.3	-	1	755	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GCTCGGCGGCGACCAGCAGCT	0.557													6	102					0	0	0	0	A	125391097	G	A	125391097	3	1	345	1	0	0	0	0	1	0	0	0	11022	1058	37	1	241	1	OR1B1	9	125391097	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	75364	125391097	15822334	325	65186											
OR1B1	347169	broad.mit.edu	37	chr9	125391445	125391445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcacagatggccacatagcGatccagagccatgacagcaa	14	5	10	12	1	1	3	1	1	0	2	2	4	2	3	3	1	3	1	3	1	2	1	rs140036779	by1000genomes	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:125391445G>A	ENST00000304833.3	-	1	407	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GCCACATAGCGATCCAGAGCC	0.502													6	74					0	0	0	0	A	125391445	G	A	125391445	3	1	345	1	0	0	0	0	1	0	0	0	11022	1058	37	1	589	1	OR1B1	9	125391445	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	348	125391445	15821986	326	65187											
C9orf114	51490	broad.mit.edu	37	chr9	131588373	131588373	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccaccacgatgccctctcgGaactcggattcctcatcctg	7	10	7	17	3	2	0	1	0	1	0	7	3	5	2	5	2	2	0	5	2	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:131588373G>C	ENST00000361256.5	-	7	607	c.567C>G	c.(565-567)ttC>ttG	p.F189L		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	189										kidney(2)|large_intestine(4)|ovary(1)	7						TGCCCTCTCGGAACTCGGATT	0.612													7	119					0	0	0	0	C	131588373	G	C	131588373	3	2	345	1	0	0	0	0	1	0	0	0	2474	1165	41	2	587	2	C9orf114	9	131588373	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	6196928	131588373	9625058	327	65188											
CCBL1	883	broad.mit.edu	37	chr9	131596036	131596036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccttcacaaaacagaagcGgatatagtggtcaaagtgct	15	9	9	8	1	2	1	2	0	0	1	2	2	2	2	1	2	4	1	1	2	7	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:131596036G>A	ENST00000436267.2	-	14	1623	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.R348C|CCBL1_ENST00000302586.3_Missense_Mutation_p.R398C			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	398					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	AAACAGAAGCGGATATAGTGG	0.547													5	49					0	0	0	0	A	131596036	G	A	131596036	3	1	345	1	0	0	0	0	1	0	0	0	2757	1116	39	1	84	1	CCBL1	9	131596036	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	7663	131596036	9617395	328	65189											
POMT1	10585	broad.mit.edu	37	chr9	134386815	134386815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtctttgggaaacctgtgcCctgctggcttcattcccacc	5	12	9	15	1	2	0	1	0	1	0	3	1	3	1	4	2	3	2	4	2	1	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:134386815C>T	ENST00000423007.1	+	10	1389	c.947C>T	c.(946-948)cCc>cTc	p.P316L	POMT1_ENST00000419118.2_Missense_Mutation_p.P164L|POMT1_ENST00000541219.1_Missense_Mutation_p.P94L|POMT1_ENST00000402686.3_Missense_Mutation_p.P316L|POMT1_ENST00000372228.3_Missense_Mutation_p.P338L|POMT1_ENST00000354713.4_Missense_Mutation_p.P286L|POMT1_ENST00000341012.7_Missense_Mutation_p.P262L|POMT1_ENST00000404875.2_Missense_Mutation_p.P199L|POMT1_ENST00000485278.1_3'UTR	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	338					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AAACCTGTGCCCTGCTGGCTT	0.498													8	90					0	0	0	0	T	134386815	C	T	134386815	3	4	345	1	0	0	0	0	1	0	0	0	12317	623	22	4	1047	4	POMT1	9	134386815	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2790779	134386815	6826616	329	65190											
MED27	9442	broad.mit.edu	37	chr9	134952909	134952909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatccaggcttaacagccCactgttatgaagaggatggt	12	9	12	8	0	0	2	0	1	0	1	1	4	1	4	2	4	2	2	2	4	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:134952909C>T	ENST00000292035.5	-	2	331	c.268G>A	c.(268-270)Ggg>Agg	p.G90R	MED27_ENST00000357028.2_Missense_Mutation_p.G52R|MED27_ENST00000474263.1_5'UTR|MED27_ENST00000372184.3_Missense_Mutation_p.G90R|RP11-32B11.2_ENST00000444872.2_RNA	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	90					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CTTAACAGCCCACTGTTATGA	0.443													23	165					0	0	0	0	T	134952909	C	T	134952909	3	4	345	1	0	0	0	0	1	0	0	0	9514	594	21	4	695	4	MED27	9	134952909	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	566094	134952909	6260522	330	65191											
BARHL1	56751	broad.mit.edu	37	chr9	135458563	135458563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcagcccctgagcctgggGgccgccttgcggccaaggcc	4	4	16	17	3	0	1	0	1	0	0	0	1	0	1	7	5	3	1	7	5	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:135458563G>A	ENST00000263610.2	+	1	992	c.379G>A	c.(379-381)Ggc>Agc	p.G127S	BARHL1_ENST00000542090.1_Missense_Mutation_p.G127S	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	127						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TGAGCCTGGGGGCCGCCTTGC	0.607													11	121					0	0	0	0	A	135458563	G	A	135458563	3	1	345	1	0	0	0	0	1	0	0	0	1317	1232	43	4	381	4	BARHL1	9	135458563	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	505654	135458563	5754868	331	65192											
QSOX2	169714	broad.mit.edu	37	chr9	139100648	139100648	+	Missense_Mutation	SNP	G	G	A																															gaagaagtacatcaccatgaGgaacagggatgaagccacgt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:139100648G>A	ENST00000358701.5	-	12	2060	c.2023C>T	c.(2023-2025)Ctc>Ttc	p.L675F		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	675					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		ATCACCATGAGGAACAGGGAT	0.637													10	155					0	0	0	0	A	139100648	G	A	139100648	3	1	345	1	0	0	0	0	1	0	0	0	12966	1000	35	4	77	4	QSOX2	9	139100648	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3642085	139100648	2112783	332	65193	790	2									
QSOX2	169714	broad.mit.edu	37	chr9	139100649	139100649	+	Silent	SNP	G	G	A																															aagaagtacatcaccatgagGaacagggatgaagccacgta																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr9:139100649G>A	ENST00000358701.5	-	12	2059	c.2022C>T	c.(2020-2022)ttC>ttT	p.F674F		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	674					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TCACCATGAGGAACAGGGATG	0.637													11	157					0	0	0	0	A	139100649	G	A	139100649	2	1	345	1	0	0	0	0	0	0	0	1	12966	1165	41	2		2	QSOX2	9	139100649	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	139100649	2112782	333	65194	790	2									
CHAT	1103	broad.mit.edu	37	chr10	50863221	50863221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgcgtggacaacatcagatCggccactccagaggcactgg	11	5	12	13	3	1	2	1	0	0	2	3	3	2	3	2	4	1	1	2	4	1	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr10:50863221C>T	ENST00000395562.2	+	13	1938	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	CHAT_ENST00000337653.2_Missense_Mutation_p.S572L|CHAT_ENST00000395559.2_Missense_Mutation_p.S454L|CHAT_ENST00000339797.1_Missense_Mutation_p.S454L|CHAT_ENST00000455728.2_Missense_Mutation_p.S454L|CHAT_ENST00000351556.3_Missense_Mutation_p.S454L	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	572					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AACATCAGATCGGCCACTCCA	0.617													7	117					0	0	0	0	T	50863221	C	T	50863221	3	4	345	1	0	0	0	0	1	0	0	0	3342	893	31	1	1805	1	CHAT	10	50863221	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08		50863221	84671526	334	65195											
OGDHL	55753	broad.mit.edu	37	chr10	50954859	50954859	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagggcaggtcgctcaggtgGaaggtctcatataccacgcc	9	7	14	11	2	2	0	2	0	1	0	4	2	2	1	2	5	1	2	2	5	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr10:50954859G>A	ENST00000374103.4	-	10	1318	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	OGDHL_ENST00000419399.1_Silent_p.F354F|OGDHL_ENST00000432695.1_Silent_p.F202F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	411					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGCTCAGGTGGAAGGTCTCAT	0.627													6	61					0	0	0	0	A	50954859	G	A	50954859	2	1	345	1	0	0	0	0	0	0	0	1	10911	1165	41	2		2	OGDHL	10	50954859	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	91638	50954859	84579888	335	65196											
ZNF365	22891	broad.mit.edu	37	chr10	64136664	64136664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tactgaggcaacgcctgacgGaatctgaggaggagcttctt	10	9	13	9	2	2	3	0	3	2	0	2	6	2	6	1	4	3	2	1	4	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr10:64136664G>A	ENST00000395254.3	+	2	992	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	ZNF365_ENST00000410046.3_Missense_Mutation_p.E238K|ZNF365_ENST00000395255.3_Missense_Mutation_p.E238K|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ACGCCTGACGGAATCTGAGGA	0.507													8	181					0	0	0	0	A	64136664	G	A	64136664	3	1	345	1	0	0	0	0	1	0	0	0	17964	1175	41	2	714	2	ZNF365	10	64136664	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	13181805	64136664	71398083	336	65197											
STOX1	219736	broad.mit.edu	37	chr10	70641764	70641764	+	Missense_Mutation	SNP	C	C	T																															taactcaatctcagttcgtaCctttgggtgaagttctttgc																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr10:70641764C>T	ENST00000298596.6	+	2	444	c.361C>T	c.(361-363)Cct>Tct	p.P121S	STOX1_ENST00000399162.2_Missense_Mutation_p.P121S|STOX1_ENST00000399169.4_Missense_Mutation_p.P121S|STOX1_ENST00000399165.4_Missense_Mutation_p.P121S|STOX1_ENST00000421961.2_Missense_Mutation_p.P11S	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	121						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TCAGTTCGTACCTTTGGGTGA	0.378													9	157					0	0	0	0	T	70641764	C	T	70641764	3	4	345	1	0	0	0	0	1	0	0	0	15409	507	18	4	367	4	STOX1	10	70641764	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	6505100	70641764	64892983	337	65198	791	2									
STOX1	219736	broad.mit.edu	37	chr10	70641765	70641765	+	Missense_Mutation	SNP	C	C	T																															aactcaatctcagttcgtacCtttgggtgaagttctttgct																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr10:70641765C>T	ENST00000298596.6	+	2	445	c.362C>T	c.(361-363)cCt>cTt	p.P121L	STOX1_ENST00000399162.2_Missense_Mutation_p.P121L|STOX1_ENST00000399169.4_Missense_Mutation_p.P121L|STOX1_ENST00000399165.4_Missense_Mutation_p.P121L|STOX1_ENST00000421961.2_Missense_Mutation_p.P11L	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	121						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CAGTTCGTACCTTTGGGTGAA	0.378													8	157					0	0	0	0	T	70641765	C	T	70641765	3	4	345	1	0	0	0	0	1	0	0	0	15409	681	24	4	368	4	STOX1	10	70641765	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1	70641765	64892982	338	65199	791	2									
DLG5	9231	broad.mit.edu	37	chr10	79556324	79556324	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcggtgcagtccaccttctgGacccgctgataggccaggct	6	8	13	14	2	1	1	0	1	1	0	2	2	2	2	4	4	1	3	4	4	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr10:79556324G>A	ENST00000372391.2	-	28	5198	c.5193C>T	c.(5191-5193)gtC>gtT	p.V1731V	DLG5_ENST00000372388.2_Silent_p.V1391V|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1731	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCACCTTCTGGACCCGCTGAT	0.617													5	76					0	0	0	0	A	79556324	G	A	79556324	2	1	345	1	0	0	0	0	0	0	0	1	4595	1161	41	2		2	DLG5	10	79556324	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	8914559	79556324	55978423	339	65200											
CYP2C9	1559	broad.mit.edu	37	chr10	96698526	96698526	+	Silent	SNP	C	C	T																															agctctgggagaggaaaactCcctcctggccccactcctct																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr10:96698526C>T	ENST00000260682.6	+	1	99	c.87C>T	c.(85-87)ctC>ctT	p.L29L	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	29					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GAGGAAAACTCCCTCCTGGCC	0.463													12	229					0	0	0	0	T	96698526	C	T	96698526	2	4	345	1	0	0	0	0	0	0	0	1	4200	842	30	2		2	CYP2C9	10	96698526	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	17142202	96698526	38836221	340	65201	792	2									
CYP2C9	1559	broad.mit.edu	37	chr10	96698527	96698527	+	Missense_Mutation	SNP	C	C	T																															gctctgggagaggaaaactcCctcctggccccactcctctc																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr10:96698527C>T	ENST00000260682.6	+	1	100	c.88C>T	c.(88-90)Cct>Tct	p.P30S	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	30					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGGAAAACTCCCTCCTGGCCC	0.468													12	229					0	0	0	0	T	96698527	C	T	96698527	3	4	345	1	0	0	0	0	1	0	0	0	4200	623	22	4	90	4	CYP2C9	10	96698527	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1	96698527	38836220	341	65202	792	2									
OPALIN	93377	broad.mit.edu	37	chr10	98105699	98105699	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctccttgactgagctgcatCattccaggctcagtctgggc	6	11	11	13	0	3	2	2	2	1	0	5	2	5	2	2	2	2	4	2	2	0	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr10:98105699C>T	ENST00000419479.1	-	7	902	c.395G>A	c.(394-396)tGa>tAa	p.*132*	OPALIN_ENST00000393871.1_Silent_p.*119*|OPALIN_ENST00000393870.2_Silent_p.*131*|OPALIN_ENST00000371172.3_Silent_p.*142*|OPALIN_ENST00000536387.1_Silent_p.*132*	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	0						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TGAGCTGCATCATTCCAGGCT	0.517													7	157					0	0	0	0	T	98105699	C	T	98105699	2	4	345	1	0	0	0	0	0	0	0	1	10944	837	29	2		2	OPALIN	10	98105699	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1407172	98105699	37429048	342	65203											
TLL2	7093	broad.mit.edu	37	chr10	98188453	98188453	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttctatgaaggtcacacaGgtgtgcttctcccagtgtct	7	14	9	11	0	4	1	1	1	3	0	5	1	4	1	1	2	1	1	1	2	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr10:98188453G>C	ENST00000357947.3	-	5	798	c.573C>G	c.(571-573)acC>acG	p.T191T	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	191	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGGTCACACAGGTGTGCTTCT	0.473													5	73					0	0	0	0	C	98188453	G	C	98188453	2	2	345	1	0	0	0	0	0	0	0	1	16040	987	35	4		4	TLL2	10	98188453	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	82754	98188453	37346294	343	65204											
CPN1	1369	broad.mit.edu	37	chr10	101808558	101808558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtcacagttactgtctctGggtcatacccaggtgctgtg	6	12	12	11	1	3	0	2	0	1	0	4	0	3	0	1	3	3	2	1	3	2	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr10:101808558G>A	ENST00000370418.3	-	8	1438	c.1187C>T	c.(1186-1188)cCa>cTa	p.P396L		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	396					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TACTGTCTCTGGGTCATACCC	0.483													6	135					0	0	0	0	A	101808558	G	A	101808558	3	1	345	1	0	0	0	0	1	0	0	0	3839	1348	47	4	197	4	CPN1	10	101808558	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3620105	101808558	33726189	344	65205											
DMBT1	1755	broad.mit.edu	37	chr10	124396775	124396775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgtcggccccagataacgCcgaacctggtgatattcaca	11	8	10	12	3	1	2	1	1	0	1	2	3	1	2	4	2	2	0	4	2	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr10:124396775C>T	ENST00000338354.3	+	51	6608	c.6502C>T	c.(6502-6504)Ccg>Tcg	p.P2168S	DMBT1_ENST00000359586.6_Missense_Mutation_p.P888S|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1540S|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1540S|DMBT1_ENST00000368955.3_Missense_Mutation_p.P2158S|DMBT1_ENST00000368909.3_Missense_Mutation_p.P2168S|DMBT1_ENST00000344338.3_Missense_Mutation_p.P2158S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2168	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGATAACGCCGAACCTGGT	0.522													5	52					0	0	0	0	T	124396775	C	T	124396775	3	4	345	1	0	0	0	0	1	0	0	0	4614	739	26	4	6704	4	DMBT1	10	124396775	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	22588217	124396775	11137972	345	65206											
ACADSB	36	broad.mit.edu	37	chr10	124797304	124797304	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaattgcacctttggtttcaAccatggatgaaaattcgaaa	15	12	7	7	1	1	1	1	1	0	0	2	3	1	2	2	2	2	2	2	2	5	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr10:124797304A>G	ENST00000358776.4	+	3	258	c.244A>G	c.(244-246)Acc>Gcc	p.T82A	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Intron	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	82					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	TTTGGTTTCAACCATGGATGA	0.303													10	137					0	0	0	0	G	124797304	A	G	124797304	3	3	345	1	0	0	0	0	1	0	0	0	115	43	2	5	254	5	ACADSB	10	124797304	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	400529	124797304	10737443	346	65207											
B4GALNT4	338707	broad.mit.edu	37	chr11	375641	375641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactcttctgcccccagatGagtcagccttgaagatggac	10	9	10	12	0	3	4	1	2	2	2	3	6	3	5	3	1	3	0	3	1	2	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:375641G>A	ENST00000329962.6	+	10	853	c.853G>A	c.(853-855)Gag>Aag	p.E285K		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	285						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCCCAGATGAGTCAGCCTT	0.662													5	85					0	0	0	0	A	375641	G	A	375641	3	1	345	1	0	0	0	0	1	0	0	0	1273	1291	45	2	891	2	B4GALNT4	11	375641	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08		375641	134630875	347	65208											
OR51B6	390058	broad.mit.edu	37	chr11	5373561	5373561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgttcacatcacaatgaGctacatccacttccttttcc	9	14	4	14	1	2	1	2	1	0	0	6	1	5	1	3	0	2	2	3	0	2	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:5373561G>A	ENST00000380219.1	+	1	824	c.824G>A	c.(823-825)aGc>aAc	p.S275N	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	275			S -> R (in dbSNP:rs5024042).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCACAATGAGCTACATCCAC	0.393													9	178					0	0	0	0	A	5373561	G	A	5373561	3	1	345	1	0	0	0	0	1	0	0	0	11163	971	34	4	826	4	OR51B6	11	5373561	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	4997920	5373561	129632955	348	65209											
OR51I2	390064	broad.mit.edu	37	chr11	5474918	5474918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacttcctgtccatgttgtCcttcagtgatgtggccatat	6	16	8	11	0	1	1	1	1	0	0	4	1	4	1	4	1	1	1	4	1	2	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:5474918C>A	ENST00000341449.2	+	1	281	c.200C>A	c.(199-201)tCc>tAc	p.S67Y	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCATGTTGTCCTTCAGTGAT	0.532													7	99					0.00198382	0.00199805	1	0	A	5474918	C	A	5474918	3	1	345	1	0	0	0	0	1	0	0	0	11172	855	30	2	202	2	OR51I2	11	5474918	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	101357	5474918	129531598	349	65210											
OR56A3	390083	broad.mit.edu	37	chr11	5968693	5968693	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcccctcagcctccttttCctcttggccgtaggggccaa	4	11	9	17	1	2	0	1	0	1	0	4	0	4	0	7	3	2	1	7	3	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:5968693C>T	ENST00000329564.6	+	1	124	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTCCTTTTCCTCTTGGCCG	0.592													12	144					0	0	0	0	T	5968693	C	T	5968693	2	4	345	1	0	0	0	0	0	0	0	1	11205	854	30	2		2	OR56A3	11	5968693	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	493775	5968693	129037823	350	65211											
DCHS1	8642	broad.mit.edu	37	chr11	6655466	6655466	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaatgggggagatccggaGgacccaagtccagcacccaa	12	3	14	12	2	0	1	0	0	0	1	2	5	2	4	4	5	1	1	4	5	3	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:6655466G>A	ENST00000299441.3	-	3	2280	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	623	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGATCCGGAGGACCCAAGTC	0.612													5	117					0	0	0	0	A	6655466	G	A	6655466	2	1	345	1	0	0	0	0	0	0	0	1	4319	987	35	4		4	DCHS1	11	6655466	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	686773	6655466	128351050	351	65212											
OR2AG1	144125	broad.mit.edu	37	chr11	6806863	6806863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctccagatatgagctcatgGtatatgtgatgggtgtgacc	9	12	12	8	0	1	4	1	3	0	1	2	4	2	4	3	2	1	2	3	2	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:6806863G>A	ENST00000307401.4	+	1	616	c.595G>A	c.(595-597)Gta>Ata	p.V199I		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAGCTCATGGTATATGTGAT	0.493													4	74					0	0	0	0	A	6806863	G	A	6806863	3	1	345	1	0	0	0	0	1	0	0	0	11055	1261	44	4	597	4	OR2AG1	11	6806863	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	151397	6806863	128199653	352	65213											
MRVI1	10335	broad.mit.edu	37	chr11	10648011	10648011	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggggatcgaagttttcCttttgttctattgcaatctc	7	17	10	7	1	2	0	0	0	2	0	5	3	3	2	1	3	1	3	1	3	3	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:10648011C>T	ENST00000547195.1	-	8	1097	c.597G>A	c.(595-597)aaG>aaA	p.K199K	MRVI1_ENST00000436272.1_Silent_p.K263K|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000421747.1_Silent_p.K281K|MRVI1_ENST00000527509.2_Silent_p.K199K|MRVI1_ENST00000531107.1_Silent_p.K282K|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000423302.2_Silent_p.K290K|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000552103.1_Silent_p.K199K|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	263					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGAAGTTTTCCTTTTGTTCTA	0.532													4	32					0	0	0	0	T	10648011	C	T	10648011	2	4	345	1	0	0	0	0	0	0	0	1	9923	680	24	4		4	MRVI1	11	10648011	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3841148	10648011	124358505	353	65214											
PDE3B	5140	broad.mit.edu	37	chr11	14808214	14808214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggacccagctgagaaagggGatagaaaacttaacaaggtc	17	5	12	7	0	0	2	0	1	0	2	1	5	0	4	1	4	3	1	1	4	6	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:14808214G>A	ENST00000282096.4	+	3	1614	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	421					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAGAAAGGGGATAGAAAACT	0.363													12	172					0	0	0	0	A	14808214	G	A	14808214	3	1	345	1	0	0	0	0	1	0	0	0	11709	1174	41	2	1271	2	PDE3B	11	14808214	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	4160203	14808214	120198302	354	65215											
SLC1A2	6506	broad.mit.edu	37	chr11	35313888	35313888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaaaatgccagcaaaaaagGagaaggggtttttcctggtc	14	8	13	6	0	0	1	0	0	0	1	2	3	1	2	2	5	2	2	2	5	6	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:35313888G>A	ENST00000278379.3	-	7	1319	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	SLC1A2_ENST00000395753.1_Missense_Mutation_p.S337F|SLC1A2_ENST00000395750.1_Missense_Mutation_p.S337F|SLC1A2_ENST00000606205.1_Missense_Mutation_p.S346F	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	346					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.S346F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AGCAAAAAAGGAGAAGGGGTT	0.478													11	293					0	0	0	0	A	35313888	G	A	35313888	3	1	345	1	0	0	0	0	1	0	0	0	14520	1174	41	2	707	2	SLC1A2	11	35313888	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	20505674	35313888	99692628	355	65216											
OR5W2	390148	broad.mit.edu	37	chr11	55681906	55681906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgtgaagttggtaatcCattctgattaaaactatcat	12	15	9	5	0	2	2	1	2	1	0	3	2	3	2	1	2	1	2	1	2	5	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:55681906C>T	ENST00000344514.1	-	1	152	c.153G>A	c.(151-153)atG>atA	p.M51I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTTGGTAATCCATTCTGATTA	0.388													7	92					0	0	0	0	T	55681906	C	T	55681906	3	4	345	1	0	0	0	0	1	0	0	0	11256	594	21	4	781	4	OR5W2	11	55681906	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	20368018	55681906	79324610	356	65217											
OR5I1	10798	broad.mit.edu	37	chr11	55703751	55703751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatcaatccaatgttcccTatcagaattatagcatacaa	16	11	4	10	0	2	1	2	0	0	1	4	1	4	1	2	0	3	3	2	0	8	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:55703751T>C	ENST00000301532.3	-	1	125	c.126A>G	c.(124-126)atA>atG	p.I42M		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAATGTTCCCTATCAGAATTA	0.398													6	82					0	0	0	0	C	55703751	T	C	55703751	3	2	345	1	0	0	0	0	1	0	0	0	11235	1512	53	5	821	5	OR5I1	11	55703751	Missense_Mutation	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	21845	55703751	79302765	357	65218											
OR8K5	219453	broad.mit.edu	37	chr11	55927214	55927214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatgctcaacaattctatttCctgtgcatttgagcaaagca	12	14	6	9	0	2	1	1	1	1	0	3	1	3	1	1	0	5	4	1	0	5	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:55927214C>T	ENST00000313447.1	-	1	579	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AATTCTATTTCCTGTGCATTT	0.333													7	110					0	0	0	0	T	55927214	C	T	55927214	3	4	345	1	0	0	0	0	1	0	0	0	11316	864	30	2	346	2	OR8K5	11	55927214	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	223463	55927214	79079302	358	65219											
OR8K3	219473	broad.mit.edu	37	chr11	56085945	56085945	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaccaagttggactccaggTtgcaaacccctatgtacttt	10	12	7	12	0	1	0	1	0	0	0	2	1	2	1	4	2	3	4	4	2	4	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:56085945T>C	ENST00000312711.1	+	1	163	c.163T>C	c.(163-165)Ttg>Ctg	p.L55L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GGACTCCAGGTTGCAAACCCC	0.423													9	219					0	0	0	0	C	56085945	T	C	56085945	2	2	345	1	0	0	0	0	0	0	0	1	11315	1722	60	5		5	OR8K3	11	56085945	Silent	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	158731	56085945	78920571	359	65220											
OR8K1	390157	broad.mit.edu	37	chr11	56113937	56113937	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcttctgtacgtgatcatCatggcagagaaagtactttg	10	13	9	9	1	4	2	2	1	2	1	4	3	4	2	1	1	2	3	1	1	3	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:56113937C>T	ENST00000279783.2	+	1	517	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ACGTGATCATCATGGCAGAGA	0.388										HNSCC(65;0.19)			12	289					0	0	0	0	T	56113937	C	T	56113937	2	4	345	1	0	0	0	0	0	0	0	1	11314	816	29	2		2	OR8K1	11	56113937	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	27992	56113937	78892579	360	65221			1	100		3	3	223	C		8.236297e-06
OR8K1	390157	broad.mit.edu	37	chr11	56113974	56113974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgggtgctggtaattgttCcctatctctatagcacgttt	6	18	9	8	1	1	0	0	0	1	0	3	0	2	0	1	2	2	5	1	2	4	8			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:56113974C>T	ENST00000279783.2	+	1	554	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GGTAATTGTTCCCTATCTCTA	0.398										HNSCC(65;0.19)			15	275					0	0	0	0	T	56113974	C	T	56113974	3	4	345	1	0	0	0	0	1	0	0	0	11314	855	30	2	462	2	OR8K1	11	56113974	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	37	56113974	78892542	361	65222			1	100		3	3	223	C		8.236297e-06
OR8K1	390157	broad.mit.edu	37	chr11	56114159	56114159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggctgtaatttgctcttCtccctctcaattgttctcat	6	18	5	12	0	5	0	3	0	4	0	8	0	5	0	1	1	1	4	1	1	2	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:56114159C>T	ENST00000279783.2	+	1	739	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATTTGCTCTTCTCCCTCTCAA	0.383										HNSCC(65;0.19)			9	142					0	0	0	0	T	56114159	C	T	56114159	2	4	345	1	0	0	0	0	0	0	0	1	11314	912	32	2		2	OR8K1	11	56114159	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	185	56114159	78892357	362	65223			1	100		3	3	223	C		8.236297e-06
OR5M9	390162	broad.mit.edu	37	chr11	56230826	56230826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaacctgtagctcctgacGacaggtcagccccaggagag	11	5	13	12	1	1	3	1	1	0	2	2	6	2	3	4	2	3	2	4	2	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:56230826G>A	ENST00000279791.1	-	1	51	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AGCTCCTGACGACAGGTCAGC	0.428													4	48					0	0	0	0	A	56230826	G	A	56230826	3	1	345	1	0	0	0	0	1	0	0	0	11248	1058	37	1	882	1	OR5M9	11	56230826	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	116667	56230826	78775690	363	65224											
OR5M8	219484	broad.mit.edu	37	chr11	56258723	56258723	+	Missense_Mutation	SNP	G	G	A																															gatgaggacaatcatgccaaGgttccctgccaccgtgacca																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:56258723G>A	ENST00000327216.2	-	1	148	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					ATCATGCCAAGGTTCCCTGCC	0.517													11	183					0	0	0	0	A	56258723	G	A	56258723	3	1	345	1	0	0	0	0	1	0	0	0	11247	1000	35	4	815	4	OR5M8	11	56258723	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	27897	56258723	78747793	364	65225	793	2									
OR5M8	219484	broad.mit.edu	37	chr11	56258724	56258724	+	Silent	SNP	G	G	A																															atgaggacaatcatgccaagGttccctgccaccgtgaccat																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:56258724G>A	ENST00000327216.2	-	1	147	c.123C>T	c.(121-123)aaC>aaT	p.N41N		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TCATGCCAAGGTTCCCTGCCA	0.517													11	184					0	0	0	0	A	56258724	G	A	56258724	2	1	345	1	0	0	0	0	0	0	0	1	11247	1252	44	4		4	OR5M8	11	56258724	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	56258724	78747792	365	65226	793	2									
SLC43A3	29015	broad.mit.edu	37	chr11	57176768	57176768	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgccaaagtgctctgaaggGaaactggggagagaaaccag	14	6	14	7	0	1	2	0	1	1	1	1	5	1	4	2	3	4	1	2	3	4	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:57176768G>A	ENST00000395123.2	-	13	1555	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	SLC43A3_ENST00000395124.1_Silent_p.F417F|SLC43A3_ENST00000529554.1_Silent_p.F417F|SLC43A3_ENST00000533524.1_Silent_p.F430F|RP11-872D17.8_ENST00000529411.1_Silent_p.F61F|SLC43A3_ENST00000352187.1_Silent_p.F417F	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	417					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GCTCTGAAGGGAAACTGGGGA	0.607													5	81					0	0	0	0	A	57176768	G	A	57176768	2	1	345	1	0	0	0	0	0	0	0	1	14722	1165	41	2		2	SLC43A3	11	57176768	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	918044	57176768	77829748	366	65227											
OR5A1	219982	broad.mit.edu	37	chr11	59210690	59210690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagtgaccatgttcatcCtcctgggattcacagaccat	10	11	7	13	0	3	2	3	1	0	1	5	3	5	3	4	1	0	1	4	1	0	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:59210690C>T	ENST00000302030.2	+	1	74	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CATGTTCATCCTCCTGGGATT	0.522													7	92					0	0	0	0	T	59210690	C	T	59210690	3	4	345	1	0	0	0	0	1	0	0	0	11210	681	24	4	51	4	OR5A1	11	59210690	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2033922	59210690	75795826	367	65228											
MUS81	80198	broad.mit.edu	37	chr11	65631360	65631360	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcatcatcgacggccgcttCcgggagcagaaggtaatttt	10	9	12	10	4	1	1	1	0	0	1	3	3	2	2	2	3	2	4	2	3	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:65631360C>T	ENST00000308110.4	+	10	1396	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	MUS81_ENST00000533035.1_Silent_p.F274F	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	349	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		ACGGCCGCTTCCGGGAGCAGA	0.587								Homologous recombination					6	75					0	0	0	0	T	65631360	C	T	65631360	2	4	345	1	0	0	0	0	0	0	0	1	10058	854	30	2		2	MUS81	11	65631360	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	6420670	65631360	69375156	368	65229											
DPP3	10072	broad.mit.edu	37	chr11	66276599	66276599	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcgtcagctgctggcctcatCcgatccttctctgagcgttt	4	13	10	14	3	3	1	2	1	1	0	6	2	5	1	3	1	3	3	3	1	0	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:66276599C>T	ENST00000532677.1	+	18	2549	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	DPP3_ENST00000541961.1_Silent_p.I697I|DPP3_ENST00000453114.1_Silent_p.I697I|CTD-3074O7.11_ENST00000419755.3_5'UTR|DPP3_ENST00000360510.2_Silent_p.I697I|DPP3_ENST00000531863.1_Silent_p.I717I|DPP3_ENST00000530165.1_Silent_p.I667I	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	697					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGGCCTCATCCGATCCTTCT	0.582													9	93					0	0	0	0	T	66276599	C	T	66276599	2	4	345	1	0	0	0	0	0	0	0	1	4764	845	30	2		2	DPP3	11	66276599	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	645239	66276599	68729917	369	65230											
CTTN	2017	broad.mit.edu	37	chr11	70281216	70281216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctggtggcgcggggtgtGcaagggccggtacgggctct	3	7	21	10	5	1	0	0	0	1	0	1	0	1	0	1	8	2	4	1	8	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:70281216G>C	ENST00000301843.8	+	18	1807	c.1601G>C	c.(1600-1602)tGc>tCc	p.C534S	CTTN_ENST00000376561.3_Missense_Mutation_p.C497S|CTTN_ENST00000538675.1_Missense_Mutation_p.C218S|CTTN_ENST00000346329.3_Missense_Mutation_p.C497S	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	534	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CGCGGGGTGTGCAAGGGCCGG	0.622													5	76					0	0	0	0	C	70281216	G	C	70281216	3	2	345	1	0	0	0	0	1	0	0	0	4076	1319	46	4	1663	4	CTTN	11	70281216	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	4004617	70281216	64725300	370	65231											
ARHGEF17	9828	broad.mit.edu	37	chr11	73020471	73020471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggcccgccgcagctgcctgGagcccagagtccggcctacc	5	4	14	18	3	0	1	0	0	0	1	1	2	1	2	7	3	4	2	7	3	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:73020471G>A	ENST00000263674.3	+	1	1138	c.788G>A	c.(787-789)gGa>gAa	p.G263E		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	263					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGCTGCCTGGAGCCCAGAGT	0.721													4	45					0	0	0	0	A	73020471	G	A	73020471	3	1	345	1	0	0	0	0	1	0	0	0	902	1174	41	2	790	2	ARHGEF17	11	73020471	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2739255	73020471	61986045	371	65232											
CAPN5	726	broad.mit.edu	37	chr11	76831936	76831936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgctccgagtcttcactGatgtgccctccaactgccgg	5	11	9	16	2	2	1	1	1	1	0	5	2	5	1	5	1	4	1	5	1	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:76831936G>A	ENST00000278559.3	+	10	1657	c.1468G>A	c.(1468-1470)Gat>Aat	p.D490N	CAPN5_ENST00000456580.2_Missense_Mutation_p.D530N|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.D490N	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	490	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AGTCTTCACTGATGTGCCCTC	0.622													8	142					0	0	0	0	A	76831936	G	A	76831936	3	1	345	1	0	0	0	0	1	0	0	0	2654	1290	45	2	1502	2	CAPN5	11	76831936	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3811465	76831936	58174580	372	65233											
DLG2	1740	broad.mit.edu	37	chr11	84028112	84028112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgggcatccctgatcaggGtgggcgcactcctgacggca	7	7	15	12	2	1	2	1	2	0	0	3	2	3	2	2	4	0	3	2	4	0	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:84028112G>A	ENST00000280241.8	-	1	76	c.77C>T	c.(76-78)aCc>aTc	p.T26I	DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.T26I|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCTGATCAGGGTGGGCGCACT	0.607													13	227					0	0	0	0	A	84028112	G	A	84028112	3	1	345	1	0	0	0	0	1	0	0	0	4592	1276	44	4		4	DLG2	11	84028112	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	7196176	84028112	50978404	373	65234											
BIRC3	330	broad.mit.edu	37	chr11	102195383	102195383	+	Missense_Mutation	SNP	G	G	A																															tggggttcctgtctcagaaaGgagtcttgctcgtgctggtt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:102195383G>A	ENST00000263464.3	+	2	2893	c.143G>A	c.(142-144)aGg>aAg	p.R48K	BIRC3_ENST00000532808.1_Missense_Mutation_p.R48K	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	48					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GTCTCAGAAAGGAGTCTTGCT	0.453			T	MALT1	MALT								6	147					0	0	0	0	A	102195383	G	A	102195383	3	1	345	1	0	0	0	0	1	0	0	0	1441	1000	35	4	145	4	BIRC3	11	102195383	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	18167271	102195383	32811133	374	65235	794	2									
BIRC3	330	broad.mit.edu	37	chr11	102195384	102195384	+	Silent	SNP	G	G	A																															ggggttcctgtctcagaaagGagtcttgctcgtgctggttt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:102195384G>A	ENST00000263464.3	+	2	2894	c.144G>A	c.(142-144)agG>agA	p.R48R	BIRC3_ENST00000532808.1_Silent_p.R48R	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	48					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TCTCAGAAAGGAGTCTTGCTC	0.458			T	MALT1	MALT								7	147					0	0	0	0	A	102195384	G	A	102195384	2	1	345	1	0	0	0	0	0	0	0	1	1441	1165	41	2		2	BIRC3	11	102195384	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	102195384	32811132	375	65236	794	2									
ARHGAP20	57569	broad.mit.edu	37	chr11	110477462	110477462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctcattttaattccatatgGatattcatgccctacacaga	12	14	5	10	0	2	1	2	0	0	1	3	2	3	2	2	1	2	1	2	1	4	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:110477462G>A	ENST00000260283.4	-	10	1071	c.787C>T	c.(787-789)Cca>Tca	p.P263S	ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P227S|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P237S|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P240S|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P227S|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P237S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	263	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ATTCCATATGGATATTCATGC	0.438													11	178					0	0	0	0	A	110477462	G	A	110477462	3	1	345	1	0	0	0	0	1	0	0	0	872	1174	41	2	2816	2	ARHGAP20	11	110477462	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	8282078	110477462	24529054	376	65237											
CEP164	22897	broad.mit.edu	37	chr11	117263265	117263265	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcaacagaaagaggaggcCcagctgcagaagtgccttgg	12	5	14	10	0	1	3	1	0	0	3	1	4	1	4	2	3	4	3	2	3	3	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:117263265C>T	ENST00000278935.3	+	19	2562	c.2415C>T	c.(2413-2415)gcC>gcT	p.A805A	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	805	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGAGGAGGCCCAGCTGCAGA	0.572													5	66					0	0	0	0	T	117263265	C	T	117263265	2	4	345	1	0	0	0	0	0	0	0	1	3278	610	22	4		4	CEP164	11	117263265	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	6785803	117263265	17743251	377	65238											
PHLDB1	23187	broad.mit.edu	37	chr11	118516315	118516315	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagctctgacagcatggaGaccagcatctccaccggggg	10	5	14	12	1	2	3	0	1	2	2	3	5	2	3	3	3	3	3	3	3	0	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:118516315G>A	ENST00000361417.2	+	17	3774	c.3363G>A	c.(3361-3363)gaG>gaA	p.E1121E	PHLDB1_ENST00000356063.5_Silent_p.E1074E|PHLDB1_ENST00000527898.1_Silent_p.E172E|PHLDB1_ENST00000524713.1_Silent_p.E264E|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1121										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACAGCATGGAGACCAGCATCT	0.657													10	144					0	0	0	0	A	118516315	G	A	118516315	2	1	345	1	0	0	0	0	0	0	0	1	11923	933	33	2		2	PHLDB1	11	118516315	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1253050	118516315	16490201	378	65239											
NLRX1	79671	broad.mit.edu	37	chr11	119045231	119045231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtacgtgggccgctatGgtgagatctgcggtttctct	6	12	14	9	3	2	1	0	1	2	1	3	2	2	1	1	3	2	4	1	3	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:119045231G>A	ENST00000409109.1	+	6	1506	c.919G>A	c.(919-921)Ggt>Agt	p.G307S	NLRX1_ENST00000409991.1_Missense_Mutation_p.G307S|NLRX1_ENST00000292199.2_Missense_Mutation_p.G307S|NLRX1_ENST00000409265.4_Missense_Mutation_p.G307S|NLRX1_ENST00000525863.1_Missense_Mutation_p.G307S			Q86UT6	NLRX1_HUMAN	NLR family member X1	307	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGCCGCTATGGTGAGATCTG	0.572													16	268					0	0	0	0	A	119045231	G	A	119045231	3	1	345	1	0	0	0	0	1	0	0	0	10555	1348	47	4	937	4	NLRX1	11	119045231	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	528916	119045231	15961285	379	65240											
HSPA8	3312	broad.mit.edu	37	chr11	122930406	122930406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttcttcaaatcgggcacGggtaatggaggtatagaagt	12	10	13	6	2	2	1	1	0	1	1	3	2	2	2	0	4	0	4	0	4	5	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:122930406G>A	ENST00000534624.1	-	5	1171	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C	HSPA8_ENST00000453788.2_Missense_Mutation_p.R299C|HSPA8_ENST00000227378.3_Missense_Mutation_p.R299C|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000526110.1_Missense_Mutation_p.R280C|HSPA8_ENST00000534319.1_Missense_Mutation_p.R63C|HSPA8_ENST00000533540.1_Missense_Mutation_p.R153C|HSPA8_ENST00000532636.1_Missense_Mutation_p.R299C	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	299	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AATCGGGCACGGGTAATGGAG	0.498													5	71					0	0	0	0	A	122930406	G	A	122930406	3	1	345	1	0	0	0	0	1	0	0	0	7468	1116	39	1	1065	1	HSPA8	11	122930406	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3885175	122930406	12076110	380	65241											
PANX3	116337	broad.mit.edu	37	chr11	124481588	124481588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttcgtagctgtgggctccCccttgttgctgatgtccctg	3	14	12	12	1	0	1	0	1	0	0	3	1	2	1	3	1	2	6	3	1	1	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr11:124481588C>T	ENST00000284288.2	+	1	203	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	46					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGTGGGCTCCCCCTTGTTGCT	0.602													5	69					0	0	0	0	T	124481588	C	T	124481588	3	4	345	1	0	0	0	0	1	0	0	0	11493	623	22	4	138	4	PANX3	11	124481588	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1551182	124481588	10524928	381	65242											
VWF	7450	broad.mit.edu	37	chr12	6128369	6128369	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcacaatgaccttcttcttCttcaggccctggacgtagcg	8	12	8	13	2	5	1	2	1	3	0	5	2	5	2	2	2	1	1	2	2	2	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:6128369C>T	ENST00000261405.5	-	28	4469	c.4215G>A	c.(4213-4215)aaG>aaA	p.K1405K		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1405	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTTCTTCTTCTTCAGGCCCT	0.617													8	103					0	0	0	0	T	6128369	C	T	6128369	2	4	345	1	0	0	0	0	0	0	0	1	17342	912	32	2		2	VWF	12	6128369	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08		6128369	127723526	382	65243											
SCNN1A	6337	broad.mit.edu	37	chr12	6457903	6457903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacgacctaccgtgacagagGgagactcagaattggttttg	11	9	12	9	2	1	4	1	1	0	3	1	6	1	4	2	2	1	1	2	2	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:6457903G>A	ENST00000358945.3	-	12	2125	c.1685C>T	c.(1684-1686)cCc>cTc	p.P562L	SCNN1A_ENST00000360168.3_Missense_Mutation_p.P599L|SCNN1A_ENST00000543768.1_Missense_Mutation_p.P563L|SCNN1A_ENST00000228916.2_Missense_Mutation_p.P540L|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000540037.1_Missense_Mutation_p.P240L			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	540			S -> L (in AR-PHA1).		excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CGTGACAGAGGGAGACTCAGA	0.522													9	121					0	0	0	0	A	6457903	G	A	6457903	3	1	345	1	0	0	0	0	1	0	0	0	14014	1232	43	4	398	4	SCNN1A	12	6457903	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	329534	6457903	127393992	383	65244											
LTBR	4055	broad.mit.edu	37	chr12	6499948	6499948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcccagctacccccgaacctCcataccccattcccgaagag	10	6	5	20	2	0	1	0	0	0	1	3	3	3	1	8	0	4	1	8	0	4	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:6499948C>T	ENST00000228918.4	+	10	1479	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	LTBR_ENST00000539925.1_Missense_Mutation_p.P366S|LTBR_ENST00000541102.1_Missense_Mutation_p.P242S	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	385					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CCCCGAACCTCCATACCCCAT	0.617													9	186					0	0	0	0	T	6499948	C	T	6499948	3	4	345	1	0	0	0	0	1	0	0	0	9141	855	30	2	1191	2	LTBR	12	6499948	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	42045	6499948	127351947	384	65245											
CHD4	1108	broad.mit.edu	37	chr12	6692098	6692098	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccttacgactgggcctacgGggagctgcaagaagaaaaag	13	5	13	10	2	0	2	0	0	0	2	0	4	0	3	2	3	4	2	2	3	6	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:6692098G>A	ENST00000309577.6	-	27	4399	c.4236C>T	c.(4234-4236)ccC>ccT	p.P1412P	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Silent_p.P1409P|CHD4_ENST00000357008.2_Silent_p.P1384P|CHD4_ENST00000544040.1_Silent_p.P1377P|CHD4_ENST00000540960.1_5'UTR			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1384					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGGGCCTACGGGGAGCTGCAA	0.453													12	168					0	0	0	0	A	6692098	G	A	6692098	2	1	345	1	0	0	0	0	0	0	0	1	3356	1219	43	4		4	CHD4	12	6692098	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	192150	6692098	127159797	385	65246											
ZNF384	171017	broad.mit.edu	37	chr12	6777001	6777001	+	Missense_Mutation	SNP	G	G	A																															aacactggggtggagggttgGgattgctgtccccaccaccc																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:6777001G>A	ENST00000396795.1	-	9	1927	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	ZNF384_ENST00000396799.2_Missense_Mutation_p.P477L|ZNF384_ENST00000319770.3_Missense_Mutation_p.P461L|ZNF384_ENST00000396801.3_Missense_Mutation_p.P538L|ZNF384_ENST00000355772.4_Missense_Mutation_p.P422L|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000361959.3_Missense_Mutation_p.P538L			Q8TF68	ZN384_HUMAN	zinc finger protein 384	538	Ala-rich.|Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						TGGAGGGTTGGGATTGCTGTC	0.622			T	"EWSR1, TAF15 "	ALL								11	195					0	0	0	0	A	6777001	G	A	6777001	3	1	345	1	0	0	0	0	1	0	0	0	17970	1232	43	4	124	4	ZNF384	12	6777001	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	84903	6777001	127074894	386	65247	795	2									
ZNF384	171017	broad.mit.edu	37	chr12	6777002	6777002	+	Missense_Mutation	SNP	G	G	A																															acactggggtggagggttggGattgctgtccccaccacccc																								rs145358232		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:6777002G>A	ENST00000396795.1	-	9	1926	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	ZNF384_ENST00000396799.2_Missense_Mutation_p.P477S|ZNF384_ENST00000319770.3_Missense_Mutation_p.P461S|ZNF384_ENST00000396801.3_Missense_Mutation_p.P538S|ZNF384_ENST00000355772.4_Missense_Mutation_p.P422S|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000361959.3_Missense_Mutation_p.P538S			Q8TF68	ZN384_HUMAN	zinc finger protein 384	538	Ala-rich.|Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGAGGGTTGGGATTGCTGTCC	0.622			T	"EWSR1, TAF15 "	ALL								11	194					0	0	0	0	A	6777002	G	A	6777002	3	1	345	1	0	0	0	0	1	0	0	0	17970	1174	41	2	125	2	ZNF384	12	6777002	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	6777002	127074893	387	65248	795	2									
A2ML1	144568	broad.mit.edu	37	chr12	9001443	9001443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaatgccccaagggcattCgagccagcgttccattatct	9	9	8	15	2	1	0	0	0	1	0	3	1	2	0	5	1	3	2	5	1	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:9001443C>T	ENST00000299698.7	+	16	2141	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	A2ML1_ENST00000539547.1_Missense_Mutation_p.S163L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	498						extracellular space	endopeptidase inhibitor activity	p.S654L(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAAGGGCATTCGAGCCAGCGT	0.527													13	348					0	0	0	0	T	9001443	C	T	9001443	3	4	345	1	0	0	0	0	1	0	0	0	5	893	31	1	2023	1	A2ML1	12	9001443	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2224441	9001443	124850452	388	65249											
TAS2R13	50838	broad.mit.edu	37	chr12	11061487	11061487	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaaataagaagaccaaGgttcctagcagtatcatcag	17	10	7	7	0	2	2	2	0	0	2	3	2	3	2	2	1	1	3	2	1	8	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:11061487G>A	ENST00000390677.2	-	1	674	c.411C>T	c.(409-411)acC>acT	p.T137T	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	137					sensory perception of taste	integral to membrane	taste receptor activity	p.T137T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGAAGACCAAGGTTCCTAGCA	0.353													6	113					0	0	0	0	A	11061487	G	A	11061487	2	1	345	1	0	0	0	0	0	0	0	1	15658	987	35	4		4	TAS2R13	12	11061487	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2060044	11061487	122790408	389	65250											
PRB1	5542	broad.mit.edu	37	chr12	11506726	11506726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaccttggggctggttacctCcttgtgggggtggtccttgt	2	14	16	9	0	0	0	0	0	0	0	2	1	2	0	4	6	1	2	4	6	1	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:11506726C>T	ENST00000500254.2	-	3	348	c.311G>A	c.(310-312)gGa>gAa	p.G104E	PRB1_ENST00000546254.1_Missense_Mutation_p.G104E|PRB1_ENST00000545626.1_Missense_Mutation_p.G104E	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	287	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGTTACCTCCTTGTGGGGG	0.622													29	570					0	0	0	0	T	11506726	C	T	11506726	3	4	345	1	0	0	0	0	1	0	0	0	12522	855	30	2	688	2	PRB1	12	11506726	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	445239	11506726	122345169	390	65251											
PRB2	653247	broad.mit.edu	37	chr12	11546788	11546790	+	In_Frame_Del	DEL	GGA	GGA	-																															gtggtccttgtggctttcctGgaggaggtgggggaccttga																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:11546788_11546790delGGA	ENST00000389362.4	-	3	257_259	c.222_224delTCC	c.(220-225)cca>cc	p.PP74del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTTTCCTGGAGGAGGTGGGG	0.601													7	727	---	---	---	---					-	11546790	GGA	-	11546788	7	5	345	1	0	1	0	1	0	0	0	0	12523	1348	47	0	1030	0	PRB2	12	11546788	In_Frame_Del	DEL	GGA	TCGA-CV-A468-01A-11D-A25Y-08	40062	11546788	122305107	391	65252											
WBP11	51729	broad.mit.edu	37	chr12	14946760	14946760	+	Frame_Shift_Del	DEL	T	T	-																															ctgatttgtcggtgtcactgTcatcagtactgtcatcatgc																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:14946760delT	ENST00000261167.2	-	8	1051	c.818delA	c.(817-819)gcfs	p.D273fs	WBP11_ENST00000537574.1_Frame_Shift_Del_p.D273fs	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	273	Asp-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGTGTCACTGTCATCAGTACT	0.448													11	326	---	---	---	---					-	14946760	T	-	14946760	7	5	345	1	0	1	0	1	0	0	0	0	17354	1667	58	0	1127	0	WBP11	12	14946760	Frame_Shift_Del	DEL	T	TCGA-CV-A468-01A-11D-A25Y-08	3399972	14946760	118905135	392	65253											
CAPRIN2	65981	broad.mit.edu	37	chr12	30878929	30878929	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttacaagttccttgaatctGagtcatcagatcctgcagtt	10	14	8	9	0	3	3	2	2	1	1	5	3	5	3	2	0	2	4	2	0	3	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:30878929G>A	ENST00000251071.5	-	9	2626	c.1876C>T	c.(1876-1878)Cag>Tag	p.Q626*	CAPRIN2_ENST00000308433.5_Nonsense_Mutation_p.Q293*|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.Q626*|CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.Q626*|CAPRIN2_ENST00000395805.2_Nonsense_Mutation_p.Q626*	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	626					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTTGAATCTGAGTCATCAGA	0.398													7	83					0	0	0	0	A	30878929	G	A	30878929	4	1	345	1	0	0	0	0	0	1	0	0	2661	1299	45	2	1547	2	CAPRIN2	12	30878929	Nonsense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	15932169	30878929	102972966	393	65254											
SYT10	341359	broad.mit.edu	37	chr12	33579231	33579231	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggctggcttttcattttcCttaatttcttttttctcttc	4	23	4	10	1	3	0	1	0	2	0	6	0	4	0	1	2	0	2	1	2	1	10			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:33579231C>T	ENST00000228567.3	-	2	647	c.351G>A	c.(349-351)aaG>aaA	p.K117K	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	117						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTCATTTTCCTTAATTTCTT	0.413													8	175					0	0	0	0	T	33579231	C	T	33579231	2	4	345	1	0	0	0	0	0	0	0	1	15557	680	24	4		4	SYT10	12	33579231	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2700302	33579231	100272664	394	65255											
SLC38A4	55089	broad.mit.edu	37	chr12	47170741	47170741	+	Missense_Mutation	SNP	C	C	T																															caggtacatgacaagcatccCcgtgatggaaatatttgaca																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:47170741C>T	ENST00000447411.1	-	12	1326	c.1120G>A	c.(1120-1122)Ggg>Agg	p.G374R	SLC38A4_ENST00000266579.4_Missense_Mutation_p.G374R	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	374					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ACAAGCATCCCCGTGATGGAA	0.403													9	137					0	0	0	0	T	47170741	C	T	47170741	3	4	345	1	0	0	0	0	1	0	0	0	14694	623	22	4	543	4	SLC38A4	12	47170741	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	13591510	47170741	86681154	395	65256	796	2									
SLC38A4	55089	broad.mit.edu	37	chr12	47170742	47170742	+	Silent	SNP	C	C	T																															aggtacatgacaagcatcccCgtgatggaaatatttgacac																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:47170742C>T	ENST00000447411.1	-	12	1325	c.1119G>A	c.(1117-1119)acG>acA	p.T373T	SLC38A4_ENST00000266579.4_Silent_p.T373T	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	373					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CAAGCATCCCCGTGATGGAAA	0.403													9	135					0	0	0	0	T	47170742	C	T	47170742	2	4	345	1	0	0	0	0	0	0	0	1	14694	639	23	1		1	SLC38A4	12	47170742	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1	47170742	86681153	396	65257	796	2									
ACVR1B	91	broad.mit.edu	37	chr12	52370217	52370217	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcatcatcatcattgttttCcttgtcattaactatcatca	10	18	2	11	0	7	0	7	0	0	0	8	0	8	0	1	0	1	1	1	0	2	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:52370217C>T	ENST00000257963.4	+	3	515	c.438C>T	c.(436-438)ttC>ttT	p.F146F	ACVR1B_ENST00000542485.1_Silent_p.F94F|ACVR1B_ENST00000415850.2_Silent_p.F146F|ACVR1B_ENST00000426655.2_Silent_p.F146F|ACVR1B_ENST00000541224.1_Silent_p.F146F	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	146			F -> L (in dbSNP:rs34488074).		G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCATTGTTTTCCTTGTCATTA	0.537													7	128					0	0	0	0	T	52370217	C	T	52370217	2	4	345	1	0	0	0	0	0	0	0	1	221	854	30	2		2	ACVR1B	12	52370217	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5199475	52370217	81481678	397	65258											
SOAT2	8435	broad.mit.edu	37	chr12	53514638	53514638	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaacgcctttgccgagatgCtacgatttggagacaggatg	10	10	12	9	3	1	2	1	0	0	2	1	6	1	3	2	2	4	1	2	2	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:53514638C>T	ENST00000301466.3	+	11	1168	c.1108C>T	c.(1108-1110)Cta>Tta	p.L370L		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	370					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TGCCGAGATGCTACGATTTGG	0.567													6	113					0	0	0	0	T	53514638	C	T	53514638	2	4	345	1	0	0	0	0	0	0	0	1	14999	796	28	4		4	SOAT2	12	53514638	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1144421	53514638	80337257	398	65259											
ESPL1	9700	broad.mit.edu	37	chr12	53664573	53664573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagagctgacggaccacatgGggatgaccggttagtgccct	10	7	14	10	2	0	3	0	2	0	1	0	5	0	5	3	4	2	2	3	4	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:53664573G>A	ENST00000257934.4	+	5	1451	c.1360G>A	c.(1360-1362)Ggg>Agg	p.G454R	ESPL1_ENST00000552462.1_Missense_Mutation_p.G454R	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	454					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGACCACATGGGGATGACCGG	0.567													5	88					0	0	0	0	A	53664573	G	A	53664573	3	1	345	1	0	0	0	0	1	0	0	0	5291	1232	43	4	1374	4	ESPL1	12	53664573	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	149935	53664573	80187322	399	65260											
AAAS	8086	broad.mit.edu	37	chr12	53715145	53715145	+	Silent	SNP	G	G	A																															acctggccccggaagtcgggGggcgggctctcatagctact																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:53715145G>A	ENST00000209873.4	-	1	270	c.105C>T	c.(103-105)ccC>ccT	p.P35P	AAAS_ENST00000549983.1_Intron|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Silent_p.P35P	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	35					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GGAAGTCGGGGGGCGGGCTCT	0.652													8	164					0	0	0	0	A	53715145	G	A	53715145	2	1	345	1	0	0	0	0	0	0	0	1	8	1219	43	4		4	AAAS	12	53715145	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	50572	53715145	80136750	400	65261	797	2									
AAAS	8086	broad.mit.edu	37	chr12	53715146	53715146	+	Missense_Mutation	SNP	G	G	A																															cctggccccggaagtcggggGgcgggctctcatagctactg																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:53715146G>A	ENST00000209873.4	-	1	269	c.104C>T	c.(103-105)cCc>cTc	p.P35L	AAAS_ENST00000549983.1_Intron|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Missense_Mutation_p.P35L	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	35					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GAAGTCGGGGGGCGGGCTCTC	0.647													8	164					0	0	0	0	A	53715146	G	A	53715146	3	1	345	1	0	0	0	0	1	0	0	0	8	1232	43	4	1600	4	AAAS	12	53715146	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	53715146	80136749	401	65262	797	2									
OR6C70	390327	broad.mit.edu	37	chr12	55863090	55863090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttaacaacggggcaactGaagtattgagcacagttact	13	10	11	7	1	0	2	0	2	0	0	0	2	0	2	0	3	5	5	0	3	6	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:55863090G>A	ENST00000327335.4	-	1	832	c.833C>T	c.(832-834)tCa>tTa	p.S278L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CGGGGCAACTGAAGTATTGAG	0.368													10	120					0	0	0	0	A	55863090	G	A	55863090	3	1	345	1	0	0	0	0	1	0	0	0	11268	1294	45	2	107	2	OR6C70	12	55863090	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2147944	55863090	77988805	402	65263											
LRIG3	121227	broad.mit.edu	37	chr12	59274507	59274507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctcgccaccttgggcccGgaggtgtgcataattttcca	7	10	10	14	2	0	0	0	0	0	0	2	1	1	1	5	3	1	1	5	3	1	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:59274507G>A	ENST00000320743.3	-	13	1943	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	LRIG3_ENST00000379141.4_Missense_Mutation_p.R493W	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	553	Ig-like C2-type 1.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCTTGGGCCCGGAGGTGTGCA	0.498			T	ROS1	NSCLC								7	104					0	0	0	0	A	59274507	G	A	59274507	3	1	345	1	0	0	0	0	1	0	0	0	9010	1115	39	1	1730	1	LRIG3	12	59274507	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3411417	59274507	74577388	403	65264											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450831	85450831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcatttaaaccttggcttGaaattttcaagcaaaatcaa	17	13	4	7	0	3	1	3	1	0	0	3	1	3	1	1	1	2	2	1	1	8	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:85450831G>A	ENST00000393217.2	+	8	2321	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	754										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACCTTGGCTTGAAATTTTCAA	0.378													22	445					0	0	0	0	A	85450831	G	A	85450831	3	1	345	1	0	0	0	0	1	0	0	0	9093	1291	45	2	2286	2	LRRIQ1	12	85450831	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	26176324	85450831	48401064	404	65265											
DCN	1634	broad.mit.edu	37	chr12	91552139	91552139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgatctcattctcatGggcacgcagctcctgaagag	8	12	11	10	1	2	3	2	2	2	1	5	3	3	3	1	2	1	3	1	2	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:91552139G>A	ENST00000052754.5	-	4	973	c.472C>T	c.(472-474)Cat>Tat	p.H158Y	DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.H158Y|DCN_ENST00000547568.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.H158Y|DCN_ENST00000228329.5_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000441303.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	158					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TCATTCTCATGGGCACGCAGC	0.393													11	218					0	0	0	0	A	91552139	G	A	91552139	3	1	345	1	0	0	0	0	1	0	0	0	4329	1348	47	4	627	4	DCN	12	91552139	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	6101308	91552139	42299756	405	65266											
STAB2	55576	broad.mit.edu	37	chr12	104089344	104089344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggtgctggtcccacaaaGacgtctaactggctccttac	9	10	9	13	1	2	1	1	0	1	1	4	1	4	1	2	3	3	2	2	3	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:104089344G>A	ENST00000388887.2	+	32	3596	c.3392G>A	c.(3391-3393)aGa>aAa	p.R1131K		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1131					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTCCCACAAAGACGTCTAACT	0.468													6	69					0	0	0	0	A	104089344	G	A	104089344	3	1	345	1	0	0	0	0	1	0	0	0	15328	942	33	2	3518	2	STAB2	12	104089344	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	12537205	104089344	29762551	406	65267											
TMEM119	338773	broad.mit.edu	37	chr12	108985566	108985566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcgcccctgccctccaccatCctggctccgtccccaccgcc	3	6	7	25	3	0	0	0	0	0	0	4	0	4	0	11	1	1	1	11	1	0	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:108985566C>T	ENST00000392806.3	-	2	762	c.594G>A	c.(592-594)agG>agA	p.R198R		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	198						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CCTCCACCATCCTGGCTCCGT	0.687													4	67					0	0	0	0	T	108985566	C	T	108985566	2	4	345	1	0	0	0	0	0	0	0	1	16126	854	30	2		2	TMEM119	12	108985566	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	4896222	108985566	24866329	407	65268											
ACACB	32	broad.mit.edu	37	chr12	109680255	109680255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtccagatcatgtttcactCcttcggcaacaagcaagggc	10	9	10	12	1	2	1	2	0	0	1	5	1	4	1	2	3	2	3	2	3	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr12:109680255C>T	ENST00000338432.7	+	37	5155	c.5036C>T	c.(5035-5037)tCc>tTc	p.S1679F	ACACB_ENST00000377848.3_Missense_Mutation_p.S1679F|ACACB_ENST00000377854.5_Missense_Mutation_p.S1609F|ACACB_ENST00000543201.1_Missense_Mutation_p.S345F			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1679					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ATGTTTCACTCCTTCGGCAAC	0.522													5	113					0	0	0	0	T	109680255	C	T	109680255	3	4	345	1	0	0	0	0	1	0	0	0	107	855	30	2	5178	2	ACACB	12	109680255	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	694689	109680255	24171640	408	65269											
LATS2	26524	broad.mit.edu	37	chr13	21565493	21565493	+	Silent	SNP	G	G	A																															ttgctgatgtactccagggcGgcctcgatgctcctgctgcc																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr13:21565493G>A	ENST00000382592.4	-	3	798	c.393C>T	c.(391-393)gcC>gcT	p.A131A	LATS2_ENST00000542899.1_Silent_p.A131A|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	131	UBA.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		ACTCCAGGGCGGCCTCGATGC	0.577													7	62					0	0	0	0	A	21565493	G	A	21565493	2	1	345	1	0	0	0	0	0	0	0	1	8700	1103	39	1		1	LATS2	13	21565493	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08		21565493	93604385	409	65270	798	2									
LATS2	26524	broad.mit.edu	37	chr13	21565494	21565494	+	Missense_Mutation	SNP	G	G	A																															tgctgatgtactccagggcgGcctcgatgctcctgctgcca																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr13:21565494G>A	ENST00000382592.4	-	3	797	c.392C>T	c.(391-393)gCc>gTc	p.A131V	LATS2_ENST00000542899.1_Missense_Mutation_p.A131V|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	131	UBA.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCCAGGGCGGCCTCGATGCT	0.577													7	60					0	0	0	0	A	21565494	G	A	21565494	3	1	345	1	0	0	0	0	1	0	0	0	8700	1203	42	4	2898	4	LATS2	13	21565494	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	21565494	93604384	410	65271	798	2									
RXFP2	122042	broad.mit.edu	37	chr13	32332413	32332413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agattttgcactgactcaagGtagcatgatcactccttcat	11	13	7	10	0	3	3	3	2	0	1	4	3	4	3	1	1	2	3	1	1	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr13:32332413G>A	ENST00000298386.2	+	2	184	c.113G>A	c.(112-114)gGt>gAt	p.G38D	RXFP2_ENST00000380314.1_Missense_Mutation_p.G38D	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	38						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTGACTCAAGGTAGCATGATC	0.438													9	166					0	0	0	0	A	32332413	G	A	32332413	3	1	345	1	0	0	0	0	1	0	0	0	13845	1261	44	4	119	4	RXFP2	13	32332413	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	10766919	32332413	82837465	411	65272											
SPRY2	10253	broad.mit.edu	37	chr13	80911637	80911637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggggcgaggagcaggCttgagcccaggtcttgggac	7	6	20	8	1	1	1	0	1	1	0	1	5	1	4	1	7	2	2	1	7	0	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr13:80911637C>T	ENST00000377102.1	-	2	1181	c.204G>A	c.(202-204)aaG>aaA	p.K68K	SPRY2_ENST00000540649.1_Silent_p.K68K|SPRY2_ENST00000377104.3_Silent_p.K68K			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	68					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GAGGAGCAGGCTTGAGCCCAG	0.587													8	111					0	0	0	0	T	80911637	C	T	80911637	2	4	345	1	0	0	0	0	0	0	0	1	15196	796	28	4		4	SPRY2	13	80911637	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	48579224	80911637	34258241	412	65273											
GPC5	2262	broad.mit.edu	37	chr13	92797235	92797235	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaagaggacactgaagatCacagactgtaagtgtatgat	15	9	11	6	0	2	5	2	2	0	3	2	6	2	6	0	1	0	2	0	1	4	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr13:92797235C>T	ENST00000377067.3	+	7	1926	c.1554C>T	c.(1552-1554)atC>atT	p.I518I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	518						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CACTGAAGATCACAGACTGTA	0.378													4	67					0	0	0	0	T	92797235	C	T	92797235	2	4	345	1	0	0	0	0	0	0	0	1	6650	816	29	2		2	GPC5	13	92797235	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	11885598	92797235	22372643	413	65274											
COL4A1	1282	broad.mit.edu	37	chr13	110827026	110827026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggaccctggcattcctGggatcccaatgcttcctttt	5	13	10	13	0	0	0	0	0	0	0	3	2	3	2	4	4	1	2	4	4	1	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr13:110827026G>T	ENST00000375820.4	-	38	3390	c.3269C>A	c.(3268-3270)cCa>cAa	p.P1090Q		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1090	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGCATTCCTGGGATCCCAAT	0.522													9	159					0.000274275	0.000277038	1	0	T	110827026	G	T	110827026	3	4	345	1	0	0	0	0	1	0	0	0	3719	1348	47	4	1800	4	COL4A1	13	110827026	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	18029791	110827026	4342852	414	65275											
POTEG	404785	broad.mit.edu	37	chr14	19553512	19553512	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagtggtgccgccactgcttCccctggtgcagggggagcgg	5	7	17	12	2	0	0	0	0	0	0	1	1	1	1	4	5	4	2	4	5	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:19553512C>T	ENST00000409832.3	+	1	148	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	32										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCACTGCTTCCCCTGGTGCA	0.587													20	427					0	0	0	0	T	19553512	C	T	19553512	2	4	345	1	0	0	0	0	0	0	0	1	12338	854	30	2		2	POTEG	14	19553512	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08		19553512	87796028	415	65276											
OR4K1	79544	broad.mit.edu	37	chr14	20403883	20403883	+	Missense_Mutation	SNP	T	T	G																															tacttttgggactctctaatTcctggggacttcaacttttc																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:20403883T>G	ENST00000285600.4	+	1	117	c.58T>G	c.(58-60)Tcc>Gcc	p.S20A		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACTCTCTAATTCCTGGGGACT	0.343													23	341					0	0	0	0	G	20403883	T	G	20403883	3	3	345	1	0	0	0	0	1	0	0	0	11138	1783	62	5	60	5	OR4K1	14	20403883	Missense_Mutation	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	850371	20403883	86945657	416	65277	799	2									
OR4K1	79544	broad.mit.edu	37	chr14	20403884	20403884	+	Missense_Mutation	SNP	C	C	T																															acttttgggactctctaattCctggggacttcaacttttct																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:20403884C>T	ENST00000285600.4	+	1	118	c.59C>T	c.(58-60)tCc>tTc	p.S20F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTCTCTAATTCCTGGGGACTT	0.348													23	336					0	0	0	0	T	20403884	C	T	20403884	3	4	345	1	0	0	0	0	1	0	0	0	11138	855	30	2	61	2	OR4K1	14	20403884	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1	20403884	86945656	417	65278	799	2									
PNP	4860	broad.mit.edu	37	chr14	20943406	20943406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagctgggagcagacgCtgttggtgagaaggggaatt	11	7	18	5	1	0	3	0	1	0	3	0	6	0	5	0	4	2	5	0	4	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:20943406C>G	ENST00000361505.5	+	5	793	c.647C>G	c.(646-648)gCt>gGt	p.A216G	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	216					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	GGAGCAGACGCTGTTGGTGAG	0.537													6	41					0	0	0	0	G	20943406	C	G	20943406	3	3	345	1	0	0	0	0	1	0	0	0	12235	797	28	4	665	4	PNP	14	20943406	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	539522	20943406	86406134	418	65279											
RPGRIP1	57096	broad.mit.edu	37	chr14	21798483	21798483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctttaaaaatcagcacgagGaagaggaaatgacattatcc	17	8	9	7	1	1	2	1	1	0	1	2	5	2	4	1	2	1	2	1	2	6	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:21798483G>A	ENST00000206660.6	+	19	3175	c.3175G>A	c.(3175-3177)Gaa>Aaa	p.E1059K	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E1021K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E716K|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.E418K|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E385K|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E1059K			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1059	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TCAGCACGAGGAAGAGGAAAT	0.368													10	94					0	0	0	0	A	21798483	G	A	21798483	3	1	345	1	0	0	0	0	1	0	0	0	13634	1175	41	2	3249	2	RPGRIP1	14	21798483	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	855077	21798483	85551057	419	65280											
MYH6	4624	broad.mit.edu	37	chr14	23863408	23863408	+	Missense_Mutation	SNP	C	C	T																															gaactcttccttcatggtggCcatctccttctccgtctctg																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:23863408C>T	ENST00000405093.3	-	21	2624	c.2554G>A	c.(2554-2556)Gcc>Acc	p.A852T	MYH6_ENST00000356287.3_Missense_Mutation_p.A852T	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	852					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCATGGTGGCCATCTCCTTC	0.572													6	80					0	0	0	0	T	23863408	C	T	23863408	3	4	345	1	0	0	0	0	1	0	0	0	10108	739	26	4	3341	4	MYH6	14	23863408	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2064925	23863408	83486132	420	65281	800	2									
MYH6	4624	broad.mit.edu	37	chr14	23863409	23863409	+	Missense_Mutation	SNP	C	C	T																															aactcttccttcatggtggcCatctccttctccgtctctgc																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:23863409C>T	ENST00000405093.3	-	21	2623	c.2553G>A	c.(2551-2553)atG>atA	p.M851I	MYH6_ENST00000356287.3_Missense_Mutation_p.M851I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	851					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCATGGTGGCCATCTCCTTCT	0.577													6	82					0	0	0	0	T	23863409	C	T	23863409	3	4	345	1	0	0	0	0	1	0	0	0	10108	594	21	4	3342	4	MYH6	14	23863409	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1	23863409	83486131	421	65282	800	2									
TM9SF1	10548	broad.mit.edu	37	chr14	24662133	24662133	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaatggatttccagtgttcGaggaaagaaaccaccatcgt	13	9	9	10	2	0	1	0	0	0	1	3	4	1	3	4	2	1	1	4	2	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:24662133G>A	ENST00000530611.1	-	7	1348	c.1315C>T	c.(1315-1317)Cga>Tga	p.R439*	TM9SF1_ENST00000528669.1_Nonsense_Mutation_p.R230*|TM9SF1_ENST00000556387.1_Nonsense_Mutation_p.R439*|TM9SF1_ENST00000396854.4_Nonsense_Mutation_p.R230*|TM9SF1_ENST00000524835.1_Nonsense_Mutation_p.R143*|TM9SF1_ENST00000261789.4_Nonsense_Mutation_p.R230*			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	230					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TCCAGTGTTCGAGGAAAGAAA	0.512													8	44					0	0	0	0	A	24662133	G	A	24662133	4	1	345	1	0	0	0	0	0	1	0	0	16071	1066	37	1	1191	1	TM9SF1	14	24662133	Nonsense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	798724	24662133	82687407	422	65283											
HEATR5A	25938	broad.mit.edu	37	chr14	31762743	31762743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaatttctcattatggaaGttgctgatcccagagaattt	12	15	8	6	0	1	2	1	1	1	1	3	4	2	3	1	1	1	3	1	1	5	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:31762743G>A	ENST00000543095.2	-	36	6093	c.5909C>T	c.(5908-5910)aCt>aTt	p.T1970I	RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439348.1_Missense_Mutation_p.T1889I|HEATR5A_ENST00000389961.3_Missense_Mutation_p.T1964I|HEATR5A_ENST00000439727.1_Missense_Mutation_p.T1677I	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1964							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CATTATGGAAGTTGCTGATCC	0.378													16	111					0	0	0	0	A	31762743	G	A	31762743	3	1	345	1	0	0	0	0	1	0	0	0	7081	1029	36	4	235	4	HEATR5A	14	31762743	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	7100610	31762743	75586797	423	65284											
FSCB	84075	broad.mit.edu	37	chr14	44975065	44975065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accaagaagctctactgaagGagacttttcagctggtggag	12	9	12	8	0	2	3	1	1	1	2	2	5	2	4	1	3	3	2	1	3	4	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:44975065G>A	ENST00000340446.4	-	1	1417	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	376	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTACTGAAGGAGACTTTTCA	0.522													16	186					0	0	0	0	A	44975065	G	A	44975065	3	1	345	1	0	0	0	0	1	0	0	0	6114	1174	41	2	1355	2	FSCB	14	44975065	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	13212322	44975065	62374475	424	65285											
ATP5S	27109	broad.mit.edu	37	chr14	50798841	50798841	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagacagatgtccctggggcCctggttgatagatcctatga	9	10	13	9	0	0	5	0	2	0	3	2	6	2	5	3	3	0	1	3	3	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:50798841C>T	ENST00000358473.1	+	5	588	c.588C>T	c.(586-588)gcC>gcT	p.A196A	CDKL1_ENST00000395834.1_Intron|CDKL1_ENST00000216378.2_3'UTR			Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	0					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		TCCCTGGGGCCCTGGTTGATA	0.552													6	43					0	0	0	0	T	50798841	C	T	50798841	2	4	345	1	0	0	0	0	0	0	0	1	1167	638	22	4		4	ATP5S	14	50798841	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5823776	50798841	56550699	425	65286											
SYT16	83851	broad.mit.edu	37	chr14	62536341	62536341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaacagctttggggatgacGaagagctgtccacatcttct	10	11	10	10	1	3	2	1	1	2	1	4	4	4	3	1	2	3	2	1	2	2	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:62536341G>A	ENST00000430451.2	+	2	741	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.E182K	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	182										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGGGATGACGAAGAGCTGTC	0.478													11	139					0	0	0	0	A	62536341	G	A	62536341	3	1	345	1	0	0	0	0	1	0	0	0	15563	1059	37	1	550	1	SYT16	14	62536341	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	11737500	62536341	44813199	426	65287											
PCNX	22990	broad.mit.edu	37	chr14	71443988	71443988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcaaagacgtggattagatCcagttagtgagttagaatct	14	11	11	5	1	1	4	0	1	1	3	2	5	2	5	1	1	1	3	1	1	5	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:71443988C>T	ENST00000304743.2	+	6	1380	c.934C>T	c.(934-936)Cca>Tca	p.P312S	PCNX_ENST00000439984.3_Missense_Mutation_p.P312S|PCNX_ENST00000238570.5_Missense_Mutation_p.P312S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	312						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGGATTAGATCCAGTTAGTGA	0.463													20	140					0	0	0	0	T	71443988	C	T	71443988	3	4	345	1	0	0	0	0	1	0	0	0	11662	855	30	2	956	2	PCNX	14	71443988	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	8907647	71443988	35905552	427	65288											
PNMA1	9240	broad.mit.edu	37	chr14	74180036	74180036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggaagaggtgcaatctttCtaaaaattcagcatcagaag	16	10	9	6	0	4	2	2	0	2	2	4	3	4	3	0	2	2	2	0	2	7	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:74180036C>T	ENST00000316836.3	-	1	1092	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	103					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tgcaatctttctaaaaattca	0.547													16	148					0	0	0	0	T	74180036	C	T	74180036	3	4	345	1	0	0	0	0	1	0	0	0	12225	922	32	2	758	2	PNMA1	14	74180036	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2736048	74180036	33169504	428	65289											
SPATA7	55812	broad.mit.edu	37	chr14	88899482	88899482	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgccttccttttacagtgaAgaagaactgttgtatctgag	10	15	9	7	0	1	4	0	2	1	2	2	4	2	4	2	0	3	2	2	0	5	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:88899482A>G	ENST00000556553.1	+	10	1549	c.990A>G	c.(988-990)gaA>gaG	p.E330E	SPATA7_ENST00000356583.5_Silent_p.E330E|SPATA7_ENST00000393545.4_Silent_p.E362E|SPATA7_ENST00000045347.7_Silent_p.E362E			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	362					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TTTACAGTGAAGAAGAACTGT	0.269													7	102					0	0	0	0	G	88899482	A	G	88899482	2	3	345	1	0	0	0	0	0	0	0	1	15104	69	3	5		5	SPATA7	14	88899482	Silent	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	14719446	88899482	18450058	429	65290											
SMEK1	55671	broad.mit.edu	37	chr14	91929184	91929184	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccagtgctttccagtaaTtttcaattacatgagcagtt	10	16	6	9	0	1	1	1	1	0	0	3	1	3	1	2	0	3	4	2	0	3	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:91929184T>G	ENST00000554684.1	-	12	2325	c.1829A>C	c.(1828-1830)aAt>aCt	p.N610T	SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000554943.1_Missense_Mutation_p.N623T|SMEK1_ENST00000428424.2_Missense_Mutation_p.N384T|SMEK1_ENST00000555462.1_Missense_Mutation_p.N384T|SMEK1_ENST00000337238.4_Missense_Mutation_p.N610T			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	623						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TTTCCAGTAATTTTCAATTAC	0.299													18	157					0	0	0	0	G	91929184	T	G	91929184	3	3	345	1	0	0	0	0	1	0	0	0	14881	1493	52	5	649	5	SMEK1	14	91929184	Missense_Mutation	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	3029702	91929184	15420356	430	65291											
DYNC1H1	1778	broad.mit.edu	37	chr14	102482715	102482715	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttatgccatactctggtcCctgtctggagacagccggct	6	12	11	12	1	2	1	0	0	2	1	3	2	3	1	3	3	3	2	3	3	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:102482715C>T	ENST00000360184.4	+	37	7667	c.7503C>T	c.(7501-7503)tcC>tcT	p.S2501S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2501					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TACTCTGGTCCCTGTCTGGAG	0.418													5	70					0	0	0	0	T	102482715	C	T	102482715	2	4	345	1	0	0	0	0	0	0	0	1	4877	610	22	4		4	DYNC1H1	14	102482715	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	10553531	102482715	4866825	431	65292											
AHNAK2	113146	broad.mit.edu	37	chr14	105411521	105411521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactgtcacttccgccttggGgacttttaggtccagcttgg	5	13	12	11	1	1	0	1	0	0	0	3	2	3	1	3	4	1	1	3	4	1	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr14:105411521G>A	ENST00000333244.5	-	7	10386	c.10267C>T	c.(10267-10269)Ccc>Tcc	p.P3423S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3423						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCGCCTTGGGGACTTTTAGG	0.622													30	324					0	0	0	0	A	105411521	G	A	105411521	3	1	345	1	0	0	0	0	1	0	0	0	415	1232	43	4	7124	4	AHNAK2	14	105411521	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2928806	105411521	1938019	432	65293											
MKRN3	7681	broad.mit.edu	37	chr15	23811287	23811287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaactgtcgctattcgcacGacctttctggtcggaagatg	9	11	11	10	4	1	2	0	0	1	2	4	4	1	3	1	2	1	2	1	2	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:23811287G>A	ENST00000314520.3	+	1	834	c.358G>A	c.(358-360)Gac>Aac	p.D120N	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	120						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTATTCGCACGACCTTTCTGG	0.602													7	95					0	0	0	0	A	23811287	G	A	23811287	3	1	345	1	0	0	0	0	1	0	0	0	9677	1058	37	1	360	1	MKRN3	15	23811287	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08		23811287	78720105	433	65294											
SNRPN	6638	broad.mit.edu	37	chr15	25221514	25221514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggtctggtgttgctgcGtggggagaacttggtatcca	5	14	16	6	1	1	1	0	0	1	1	2	2	2	1	1	5	3	3	1	5	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:25221514G>A	ENST00000444203.2	+	4	1269	c.230G>A	c.(229-231)cGt>cAt	p.R77H	SNRPN_ENST00000390687.4_Missense_Mutation_p.R73H|SNRPN_ENST00000400098.1_Missense_Mutation_p.R73H|SNRPN_ENST00000400100.1_Missense_Mutation_p.R73H|SNRPN_ENST00000554227.2_Missense_Mutation_p.R77H|SNRPN_ENST00000400097.1_Missense_Mutation_p.R73H|SNRPN_ENST00000346403.6_Missense_Mutation_p.R73H|SNRPN_ENST00000577565.1_Missense_Mutation_p.R73H|SNURF_ENST00000338094.6_3'UTR			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	73					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GTGTTGCTGCGTGGGGAGAAC	0.448									Prader-Willi syndrome				6	59					0	0	0	0	A	25221514	G	A	25221514	3	1	345	1	0	0	0	0	1	0	0	0	14958	1145	40	1	228	1	SNRPN	15	25221514	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1410227	25221514	77309878	434	65295											
ATP10A	57194	broad.mit.edu	37	chr15	25925294	25925294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagtgcagcgacaggcgtCatcaggcaagtcaagtaaaa	15	5	12	9	2	3	0	3	0	0	0	3	1	3	0	0	2	3	4	0	2	4	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:25925294C>T	ENST00000356865.6	-	20	3951	c.3840G>A	c.(3838-3840)atG>atA	p.M1280I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1280					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGACAGGCGTCATCAGGCAAG	0.557													8	184					0	0	0	0	T	25925294	C	T	25925294	3	4	345	1	0	0	0	0	1	0	0	0	1120	826	29	2	667	2	ATP10A	15	25925294	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	703780	25925294	76606098	435	65296											
HERC2	8924	broad.mit.edu	37	chr15	28375381	28375381	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcccctgcaacccttGgacctgccgaggccttcgaa	6	11	8	16	2	1	0	0	0	1	0	3	3	2	1	6	2	3	1	6	2	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:28375381G>A	ENST00000261609.7	-	83	12838	c.12730C>T	c.(12730-12732)Caa>Taa	p.Q4244*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4244					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCAACCCTTGGACCTGCCGA	0.572													10	251					0	0	0	0	A	28375381	G	A	28375381	4	1	345	1	0	0	0	0	0	1	0	0	7108	1357	47	4	1818	4	HERC2	15	28375381	Nonsense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2450087	28375381	74156011	436	65297											
MFAP1	4236	broad.mit.edu	37	chr15	44106796	44106796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctgactcctctccagaacGaccctcatcttccacttcca	8	12	3	18	1	4	2	1	1	3	1	8	3	7	2	5	0	1	0	5	0	1	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:44106796G>A	ENST00000267812.3	-	4	752	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	174						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCTCCAGAACGACCCTCATCT	0.483													7	162					0	0	0	0	A	44106796	G	A	44106796	3	1	345	1	0	0	0	0	1	0	0	0	9582	1058	37	1	823	1	MFAP1	15	44106796	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	15731415	44106796	58424596	437	65298											
SEMA6D	80031	broad.mit.edu	37	chr15	48056928	48056928	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcattcatcaaatctcatccCctgatggactctgccgttcc	8	13	5	15	1	5	1	4	1	2	0	8	2	7	2	4	1	1	1	4	1	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:48056928C>T	ENST00000316364.5	+	12	1630	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	SEMA6D_ENST00000537942.1_Silent_p.P397P|SEMA6D_ENST00000558816.1_Silent_p.P397P|SEMA6D_ENST00000558014.1_Silent_p.P397P|SEMA6D_ENST00000389428.3_Silent_p.P397P|SEMA6D_ENST00000389425.3_Silent_p.P397P|SEMA6D_ENST00000355997.3_Silent_p.P397P|SEMA6D_ENST00000389433.2_Silent_p.P397P|SEMA6D_ENST00000536845.2_Silent_p.P397P|SEMA6D_ENST00000358066.4_Silent_p.P397P|SEMA6D_ENST00000389432.2_Silent_p.P397P|SEMA6D_ENST00000354744.4_Silent_p.P397P	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	397	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AATCTCATCCCCTGATGGACT	0.498													6	82					0	0	0	0	T	48056928	C	T	48056928	2	4	345	1	0	0	0	0	0	0	0	1	14129	610	22	4		4	SEMA6D	15	48056928	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3950132	48056928	54474464	438	65299											
UNC13C	440279	broad.mit.edu	37	chr15	54586115	54586115	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtcataactccacagatCgaatcaaagtcagagtatgg	15	9	9	8	1	3	2	3	0	0	2	5	3	4	2	1	1	1	1	1	1	4	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:54586115C>T	ENST00000545554.1	+	10	3841	c.3841C>T	c.(3841-3843)Cga>Tga	p.R1281*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.R1279*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.R1281*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1281	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCCACAGATCGAATCAAAGT	0.323													4	73					0	0	0	0	T	54586115	C	T	54586115	4	4	345	1	0	0	0	0	0	1	0	0	17082	876	31	1	3875	1	UNC13C	15	54586115	Nonsense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	6529187	54586115	47945277	439	65300											
TRIP4	9325	broad.mit.edu	37	chr15	64716267	64716267	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacaccccccacagaggaCgactttggatagcagccaca	12	5	10	14	1	0	1	0	0	0	1	0	4	0	3	4	3	3	2	4	3	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:64716267C>T	ENST00000261884.3	+	10	1456	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	466					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CCACAGAGGACGACTTTGGAT	0.458													8	76					0	0	0	0	T	64716267	C	T	64716267	4	4	345	1	0	0	0	0	0	1	0	0	16653	528	19	1	1434	1	TRIP4	15	64716267	Nonsense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	10130152	64716267	37815125	440	65301											
RPL4	6124	broad.mit.edu	37	chr15	66793304	66793304	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacttgtagttactcttgagGgaagcggctttacgccaagt	9	13	11	8	2	1	1	0	1	1	0	1	2	1	2	1	2	4	3	1	2	6	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:66793304G>A	ENST00000307961.6	-	7	908	c.816C>T	c.(814-816)tcC>tcT	p.S272S	RPL4_ENST00000568588.1_Silent_p.S178S	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	272					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TACTCTTGAGGGAAGCGGCTT	0.398													7	98					0	0	0	0	A	66793304	G	A	66793304	2	1	345	1	0	0	0	0	0	0	0	1	13680	1219	43	4		4	RPL4	15	66793304	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2077037	66793304	35738088	441	65302											
THSD4	79875	broad.mit.edu	37	chr15	72020966	72020966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaaaatacgagggcggagGgaccatgttcacctacaagc	14	5	13	9	2	1	0	1	0	0	0	1	4	1	3	2	4	3	1	2	4	5	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:72020966G>A	ENST00000355327.3	+	9	1570	c.1436G>A	c.(1435-1437)gGg>gAg	p.G479E	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.G479E|THSD4_ENST00000357769.4_Missense_Mutation_p.G119E			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	479						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGGGCGGAGGGACCATGTTC	0.512													10	209					0	0	0	0	A	72020966	G	A	72020966	3	1	345	1	0	0	0	0	1	0	0	0	15972	1232	43	4	1466	4	THSD4	15	72020966	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	5227662	72020966	30510426	442	65303											
MYO9A	4649	broad.mit.edu	37	chr15	72338841	72338841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccttctgaaatagccccagGatatatccgtaatgtatgtt	11	13	7	10	1	1	1	0	1	1	0	2	2	2	2	4	1	1	3	4	1	6	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:72338841G>A	ENST00000356056.5	-	2	536	c.64C>T	c.(64-66)Cct>Tct	p.P22S	MYO9A_ENST00000424560.1_Missense_Mutation_p.P22S|MYO9A_ENST00000564571.1_Missense_Mutation_p.P22S|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000444904.1_Missense_Mutation_p.P22S|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	22	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATAGCCCCAGGATATATCCGT	0.398													11	198					0	0	0	0	A	72338841	G	A	72338841	3	1	345	1	0	0	0	0	1	0	0	0	10154	1174	41	2	7746	2	MYO9A	15	72338841	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	317875	72338841	30192551	443	65304											
IREB2	3658	broad.mit.edu	37	chr15	78755299	78755299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatacgggtcttgttggaaGctgctgtacgaaattgtgat	10	13	12	6	2	1	1	0	1	1	0	1	3	1	2	0	2	4	4	0	2	5	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:78755299G>A	ENST00000258886.8	+	3	291	c.142G>A	c.(142-144)Gct>Act	p.A48T	IREB2_ENST00000560440.1_Missense_Mutation_p.A48T	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	48							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CTTGTTGGAAGCTGCTGTACG	0.323													9	204					0	0	0	0	A	78755299	G	A	78755299	3	1	345	1	0	0	0	0	1	0	0	0	7879	971	34	4	152	4	IREB2	15	78755299	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	6416458	78755299	23776093	444	65305											
CHRNA3	1136	broad.mit.edu	37	chr15	78894484	78894484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagttttggtaatcaaacGggaagtaggtcacgtcgatt	12	12	11	6	3	2	0	2	0	0	0	3	2	2	1	0	3	2	3	0	3	5	6	rs72648887		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:78894484G>A	ENST00000326828.5	-	5	884	c.500C>T	c.(499-501)cCg>cTg	p.P167L	CHRNA3_ENST00000348639.3_Missense_Mutation_p.P167L	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	167					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTAATCAAACGGGAAGTAGGT	0.488													6	136					0	0	0	0	A	78894484	G	A	78894484	3	1	345	1	0	0	0	0	1	0	0	0	3413	1116	39	1	1110	1	CHRNA3	15	78894484	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	139185	78894484	23636908	445	65306											
KIAA1024	23251	broad.mit.edu	37	chr15	79749370	79749370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accccagagtcgaaaggaacCccacaagccacccttcttca	13	5	6	17	1	2	1	1	0	1	1	3	3	2	2	6	1	2	0	6	1	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:79749370C>T	ENST00000305428.3	+	2	956	c.881C>T	c.(880-882)cCc>cTc	p.P294L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	294						integral to membrane		p.P294L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CGAAAGGAACCCCACAAGCCA	0.502													9	173					0	0	0	0	T	79749370	C	T	79749370	3	4	345	1	0	0	0	0	1	0	0	0	8256	623	22	4	883	4	KIAA1024	15	79749370	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	854886	79749370	22782022	446	65307											
MEX3B	84206	broad.mit.edu	37	chr15	82335547	82335547	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgcggtgtggcagaccGggcactcgggctcgctcttc	4	8	15	14	5	1	2	0	1	1	1	4	2	1	2	2	4	0	4	2	4	0	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:82335547G>C	ENST00000329713.4	-	2	2099	c.1664C>G	c.(1663-1665)cCg>cGg	p.P555R	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	555					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	p.P555L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GTGGCAGACCGGGCACTCGGG	0.637													5	91					0	0	0	0	C	82335547	G	C	82335547	3	2	345	1	0	0	0	0	1	0	0	0	9579	1116	39	3	49	3	MEX3B	15	82335547	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2586177	82335547	20195845	447	65308											
IGF1R	3480	broad.mit.edu	37	chr15	99251266	99251266	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaccatggaggagaagccGatgtgtgagaagaccaccat	13	5	15	8	1	0	3	0	1	0	3	0	8	0	5	4	3	1	0	4	3	2	0	rs17847210	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:99251266G>A	ENST00000268035.6	+	2	1181	c.570G>A	c.(568-570)ccG>ccA	p.P190P	IGF1R_ENST00000558762.1_Silent_p.P190P	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	190					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AGGAGAAGCCGATGTGTGAGA	0.517													8	144					0	0	0	0	A	99251266	G	A	99251266	2	1	345	1	0	0	0	0	0	0	0	1	7624	1045	37	1		1	IGF1R	15	99251266	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	16915719	99251266	3280126	448	65309											
SYNM	23336	broad.mit.edu	37	chr15	99672296	99672296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggccccatttctgctgcagGgaaggttggtgattattttg	6	14	14	7	0	1	1	0	1	1	0	1	2	1	2	2	4	2	3	2	4	2	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr15:99672296G>A	ENST00000336292.6	+	5	3848	c.3728G>A	c.(3727-3729)gGg>gAg	p.G1243E	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1244	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TCTGCTGCAGGGAAGGTTGGT	0.483													7	92					0	0	0	0	A	99672296	G	A	99672296	3	1	345	1	0	0	0	0	1	0	0	0	15546	1232	43	4	3744	4	SYNM	15	99672296	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	421030	99672296	2859096	449	65310											
TSC2	7249	broad.mit.edu	37	chr16	2132475	2132475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccagtccagctgccaaGgacagctgcacaggagcgtt	10	7	12	12	1	0	0	0	0	0	0	1	2	1	2	3	2	6	5	3	2	2	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:2132475G>A	ENST00000219476.3	+	32	4483	c.3853G>A	c.(3853-3855)Gga>Aga	p.G1285R	TSC2_ENST00000568454.1_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000350773.4_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000353929.4_Missense_Mutation_p.G1242R|TSC2_ENST00000382538.6_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1285					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGCTGCCAAGGACAGCTGCA	0.632			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				8	187					0	0	0	0	A	2132475	G	A	2132475	3	1	345	1	0	0	0	0	1	0	0	0	16701	1001	35	4	3975	4	TSC2	16	2132475	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08		2132475	88222278	450	65311											
CPPED1	55313	broad.mit.edu	37	chr16	12798615	12798615	+	Missense_Mutation	SNP	T	T	G																															tggcatgctggcagtgccgcTgcctcgcgatgctcagctgc																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:12798615T>G	ENST00000381774.4	-	3	821	c.581A>C	c.(580-582)cAg>cCg	p.Q194P	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	194							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GCAGTGCCGCTGCCTCGCGAT	0.597													7	101					0	0	0	0	G	12798615	T	G	12798615	3	3	345	1	0	0	0	0	1	0	0	0	3852	1580	55	5	371	5	CPPED1	16	12798615	Missense_Mutation	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	10666140	12798615	77556138	451	65312	801	2									
CPPED1	55313	broad.mit.edu	37	chr16	12798616	12798616	+	Missense_Mutation	SNP	G	G	T																															ggcatgctggcagtgccgctGcctcgcgatgctcagctgct																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:12798616G>T	ENST00000381774.4	-	3	820	c.580C>A	c.(580-582)Cag>Aag	p.Q194K	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	194							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CAGTGCCGCTGCCTCGCGATG	0.602													7	101					0.0293803	0.0293803	1	0	T	12798616	G	T	12798616	3	4	345	1	0	0	0	0	1	0	0	0	3852	1328	46	4	372	4	CPPED1	16	12798616	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	12798616	77556137	452	65313	801	2									
ARHGAP17	55114	broad.mit.edu	37	chr16	24942209	24942209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacgctgggccggttcCttggctttggtactggtctc	2	12	16	11	2	1	0	0	0	1	0	3	0	2	0	2	7	1	5	2	7	1	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:24942209C>T	ENST00000289968.6	-	19	2480	c.2411G>A	c.(2410-2412)aGg>aAg	p.R804K	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.R726K|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	804	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGGCCGGTTCCTTGGCTTTGG	0.612													12	278					0	0	0	0	T	24942209	C	T	24942209	3	4	345	1	0	0	0	0	1	0	0	0	869	681	24	4	242	4	ARHGAP17	16	24942209	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	12143593	24942209	65412544	453	65314											
HS3ST4	9951	broad.mit.edu	37	chr16	26147009	26147009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actttgtgacaaatgaggctCccaagcgcattcactccatg	11	10	8	12	1	1	2	1	2	0	0	3	2	3	2	2	1	1	2	2	1	2	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:26147009C>T	ENST00000331351.5	+	2	1203	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	271					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AAATGAGGCTCCCAAGCGCAT	0.488													8	145					0	0	0	0	T	26147009	C	T	26147009	3	4	345	1	0	0	0	0	1	0	0	0	7417	855	30	2	817	2	HS3ST4	16	26147009	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1204800	26147009	64207744	454	65315											
HIRIP3	8479	broad.mit.edu	37	chr16	30006111	30006111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacttctgctgccacccCattctttgctgggggtccaa	5	12	10	14	0	2	1	0	1	2	0	3	1	3	1	4	2	3	3	4	2	1	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:30006111C>T	ENST00000279392.3	-	4	1185	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	HIRIP3_ENST00000566471.1_5'UTR|HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	119					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GCTGCCACCCCATTCTTTGCT	0.587													8	128					0	0	0	0	T	30006111	C	T	30006111	3	4	345	1	0	0	0	0	1	0	0	0	7171	594	21	4	1331	4	HIRIP3	16	30006111	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3859102	30006111	60348642	455	65316											
ITGAX	3687	broad.mit.edu	37	chr16	31374287	31374287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcggggcctccctctgctCcgtggacgtagacagcgacg	5	8	13	15	5	1	1	0	0	1	1	4	3	3	2	3	3	2	2	3	3	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:31374287C>T	ENST00000268296.4	+	13	1512	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	ITGAX_ENST00000562522.1_Missense_Mutation_p.S464F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	464					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCCCTCTGCTCCGTGGACGTA	0.667													12	157					0	0	0	0	T	31374287	C	T	31374287	3	4	345	1	0	0	0	0	1	0	0	0	7942	855	30	2	1441	2	ITGAX	16	31374287	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1368176	31374287	58980466	456	65317											
SHCBP1	79801	broad.mit.edu	37	chr16	46638354	46638354	+	Missense_Mutation	SNP	C	C	T																															aagtcctgatggaactcggtCttcaagaatgtcataatgcc																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:46638354C>T	ENST00000303383.3	-	6	975	c.709G>A	c.(709-711)Gac>Aac	p.D237N		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	237										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GGAACTCGGTCTTCAAGAATG	0.383													10	137					0	0	0	0	T	46638354	C	T	46638354	3	4	345	1	0	0	0	0	1	0	0	0	14362	913	32	2	1341	2	SHCBP1	16	46638354	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	15264067	46638354	43716399	457	65318	802	2									
SHCBP1	79801	broad.mit.edu	37	chr16	46638355	46638355	+	Missense_Mutation	SNP	T	T	A																															agtcctgatggaactcggtcTtcaagaatgtcataatgcct																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:46638355T>A	ENST00000303383.3	-	6	974	c.708A>T	c.(706-708)gaA>gaT	p.E236D		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	236										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GAACTCGGTCTTCAAGAATGT	0.383													10	137					0	0	0	0	A	46638355	T	A	46638355	3	1	345	1	0	0	0	0	1	0	0	0	14362	1606	56	5	1342	5	SHCBP1	16	46638355	Missense_Mutation	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	1	46638355	43716398	458	65319	802	2									
ABCC11	85320	broad.mit.edu	37	chr16	48261722	48261722	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagcgcagcttcacctttgGacatttttgtctgaggcatc	7	13	9	12	1	2	1	1	1	1	0	3	2	2	2	2	2	2	3	2	2	0	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:48261722G>A	ENST00000394747.1	-	3	739	c.390C>T	c.(388-390)gtC>gtT	p.V130V	ABCC11_ENST00000394748.1_Silent_p.V130V|ABCC11_ENST00000537808.1_Silent_p.V130V|ABCC11_ENST00000353782.5_Silent_p.V130V|ABCC11_ENST00000356608.2_Silent_p.V130V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	130						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTCACCTTTGGACATTTTTGT	0.512													9	149					0	0	0	0	A	48261722	G	A	48261722	2	1	345	1	0	0	0	0	0	0	0	1	51	1161	41	2		2	ABCC11	16	48261722	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1623367	48261722	42093031	459	65320											
LRRC36	55282	broad.mit.edu	37	chr16	67412491	67412491	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttgttttctaatctaaaGgaaagtttgaagcaaaaact	16	15	6	4	0	2	1	0	1	2	0	2	2	2	2	0	1	2	3	0	1	7	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:67412491G>A	ENST00000329956.6	+	12	1825		c.e12-1		LRRC36_ENST00000563189.1_Splice_Site|LRRC36_ENST00000290940.7_Splice_Site|LRRC36_ENST00000541146.1_Splice_Site|LRRC36_ENST00000435835.3_Splice_Site	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36											endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTAATCTAAAGGAAAGTTTGA	0.423													7	107					0	0	0	0	A	67412491	G	A	67412491	5	1	345	1	0	0	0	0	0	0	1	0	9054	1014	35	4	1880	4	LRRC36	16	67412491	Splice_Site	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	19150769	67412491	22942262	460	65321											
CENPT	80152	broad.mit.edu	37	chr16	67866389	67866389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaacgccctctggctatcGtccttgtttggccactcaac	6	11	10	14	2	2	0	1	0	1	0	4	1	3	1	3	3	2	2	3	3	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:67866389G>T	ENST00000562787.1	-	5	718	c.170C>A	c.(169-171)aCg>aAg	p.T57K	CENPT_ENST00000219172.3_Missense_Mutation_p.T57K|CENPT_ENST00000445712.2_5'UTR|CENPT_ENST00000440851.2_Missense_Mutation_p.T57K|CENPT_ENST00000564817.1_Missense_Mutation_p.T57K	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	57					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCTGGCTATCGTCCTTGTTTG	0.597													7	60					2.0095e-06	2.03854e-06	1	0	T	67866389	G	T	67866389	3	4	345	1	0	0	0	0	1	0	0	0	3271	1145	40	3	1563	3	CENPT	16	67866389	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	453898	67866389	22488364	461	65322											
COG4	25839	broad.mit.edu	37	chr16	70514946	70514946	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcttgatatcttcactgcgGaagtctatccgcagggccag	8	11	10	12	2	4	1	1	1	3	0	5	2	5	2	2	2	1	1	2	2	3	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:70514946G>A	ENST00000323786.5	-	19	2358	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	775	E domain; essential for proper cell surface glycosylation.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CTTCACTGCGGAAGTCTATCC	0.612													6	93					0	0	0	0	A	70514946	G	A	70514946	2	1	345	1	0	0	0	0	0	0	0	1	3690	1165	41	2		2	COG4	16	70514946	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2648557	70514946	19839807	462	65323											
CNTNAP4	85445	broad.mit.edu	37	chr16	76461356	76461356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttttcttttagggtttttCaggaaatgcaaatgcagaca	11	15	8	7	0	2	1	1	0	1	1	2	2	2	2	1	2	2	3	1	2	3	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:76461356C>T	ENST00000307431.8	+	5	780	c.395C>T	c.(394-396)tCa>tTa	p.S132L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S136L|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S108L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S132L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	133	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TAGGGTTTTTCAGGAAATGCA	0.423													9	211					0	0	0	0	T	76461356	C	T	76461356	3	4	345	1	0	0	0	0	1	0	0	0	3679	838	29	2	425	2	CNTNAP4	16	76461356	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5946410	76461356	13893397	463	65324											
PKD1L2	114780	broad.mit.edu	37	chr16	81181078	81181078	+	RNA	SNP	C	C	T																															cccaaggcgggggatggcacCttgagagctttgaagaggga																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:81181078C>T	ENST00000533478.1	-	0	3068				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGGATGGCACCTTGAGAGCTT	0.547													7	103					0	0	0	0	T	81181078	C	T	81181078	1	4	345	0	1	0	0	0	0	0	0	0	12037	680	24	4		4	PKD1L2	16	81181078	RNA	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	4719722	81181078	9173675	464	65325	803	2									
PKD1L2	114780	broad.mit.edu	37	chr16	81181080	81181080	+	RNA	SNP	T	T	A																															caaggcgggggatggcacctTgagagctttgaagagggagc																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:81181080T>A	ENST00000533478.1	-	0	3066				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATGGCACCTTGAGAGCTTTG	0.547													7	99					0	0	0	0	A	81181080	T	A	81181080	1	1	345	0	1	0	0	0	0	0	0	0	12037	1821	63	5		5	PKD1L2	16	81181080	RNA	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	2	81181080	9173673	465	65326	803	2									
HSD17B2	3294	broad.mit.edu	37	chr16	82069268	82069268	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaagaattgttacctgTggatcagaaggcagtcctgg	10	10	13	8	0	1	2	1	0	0	2	2	3	2	3	3	4	1	2	3	4	4	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:82069268T>A	ENST00000199936.4	+	1	432	c.239T>A	c.(238-240)gTg>gAg	p.V80E		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	80					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TTGTTACCTGTGGATCAGAAG	0.473													7	154					0	0	0	0	A	82069268	T	A	82069268	3	1	345	1	0	0	0	0	1	0	0	0	7434	1696	59	5	241	5	HSD17B2	16	82069268	Missense_Mutation	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	888188	82069268	8285485	466	65327											
ATP2C2	9914	broad.mit.edu	37	chr16	84432170	84432170	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgacagccctgccccccaaGgaagcgtgcaaatgccagaa	12	4	11	14	1	0	2	0	1	0	1	0	3	0	3	5	1	5	1	5	1	4	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:84432170G>A	ENST00000416219.2	+	2	254	c.165G>A	c.(163-165)aaG>aaA	p.K55K	ATP2C2_ENST00000262429.4_Silent_p.K55K			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	55					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGCCCCCCAAGGAAGCGTGCA	0.443													4	41					0	0	0	0	A	84432170	G	A	84432170	2	1	345	1	0	0	0	0	0	0	0	1	1148	991	35	4		4	ATP2C2	16	84432170	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2362902	84432170	5922583	467	65328											
KLHDC4	54758	broad.mit.edu	37	chr16	87782313	87782313	+	Silent	SNP	G	G	A																															ggtcttggtggccaaatgcaGgacccagagatccttgtagt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:87782313G>A	ENST00000270583.5	-	5	530	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	KLHDC4_ENST00000353170.5_Silent_p.L101L|KLHDC4_ENST00000347925.5_Silent_p.L158L	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	158										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GCCAAATGCAGGACCCAGAGA	0.567													15	253					0	0	0	0	A	87782313	G	A	87782313	2	1	345	1	0	0	0	0	0	0	0	1	8410	991	35	4		4	KLHDC4	16	87782313	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3350143	87782313	2572440	468	65329	804	2									
KLHDC4	54758	broad.mit.edu	37	chr16	87782314	87782314	+	Silent	SNP	G	G	A																															gtcttggtggccaaatgcagGacccagagatccttgtagtg																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr16:87782314G>A	ENST00000270583.5	-	5	529	c.471C>T	c.(469-471)gtC>gtT	p.V157V	KLHDC4_ENST00000353170.5_Silent_p.V100V|KLHDC4_ENST00000347925.5_Silent_p.V157V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	157								p.V157V(1)		breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCAAATGCAGGACCCAGAGAT	0.567													14	253					0	0	0	0	A	87782314	G	A	87782314	2	1	345	1	0	0	0	0	0	0	0	1	8410	1161	41	2		2	KLHDC4	16	87782314	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	87782314	2572439	469	65330	804	2									
YWHAE	7531	broad.mit.edu	37	chr17	1264556	1264556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttcctgtcgtttcctgtGgcaaattctgccagatacct	6	15	7	13	1	1	1	0	0	1	1	5	1	4	1	5	1	2	2	5	1	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:1264556G>A	ENST00000264335.8	-	4	675	c.408C>T	c.(406-408)gcC>gcT	p.A136A	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Silent_p.A114A	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide	136					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CGTTTCCTGTGGCAAATTCTG	0.388			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						11	131					0	0	0	0	A	1264556	G	A	1264556	2	1	345	1	0	0	0	0	0	0	0	1	17598	1335	47	4		4	YWHAE	17	1264556	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08		1264556	79930654	470	65331											
DLG4	1742	broad.mit.edu	37	chr17	7096290	7096290	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccacctctcgcacggactGgacgctggtcccatagaggt	7	8	12	14	3	1	1	0	0	1	1	3	3	2	3	3	4	1	2	3	4	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:7096290G>A	ENST00000399510.2	-	19	2821	c.1969C>T	c.(1969-1971)Cag>Tag	p.Q657*	DLG4_ENST00000399506.2_Nonsense_Mutation_p.Q614*|DLG4_ENST00000302955.6_Nonsense_Mutation_p.Q611*	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	614	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CGCACGGACTGGACGCTGGTC	0.612													6	53					0	0	0	0	A	7096290	G	A	7096290	4	1	345	1	0	0	0	0	0	1	0	0	4594	1357	47	4	350	4	DLG4	17	7096290	Nonsense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	5831734	7096290	74098920	471	65332											
TP53	7157	broad.mit.edu	37	chr17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A																															caaggcctcattcagctctcGgaacatctcgaagcgctcac																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAGCTCTCGGAACATCTCG	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	43					0	0	0	0	A	7574003	G	A	7574003	4	1	345	1	0	0	0	0	0	1	0	0	16476	1124	39	1	165	1	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	477713	7574003	73621207	472	65333	805	2									
TP53	7157	broad.mit.edu	37	chr17	7574004	7574004	+	Missense_Mutation	SNP	G	G	C																															aaggcctcattcagctctcgGaacatctcgaagcgctcacg																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:7574004G>C	ENST00000269305.4	-	10	1212	c.1023C>G	c.(1021-1023)ttC>ttG	p.F341L	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.F341L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	341	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		F -> C (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.R342fs*3(5)|p.I332fs*5(1)|p.R342*(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCAGCTCTCGGAACATCTCGA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	44					0	0	0	0	C	7574004	G	C	7574004	3	2	345	1	0	0	0	0	1	0	0	0	16476	1165	41	2	166	2	TP53	17	7574004	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	7574004	73621206	473	65334	805	2									
PER1	5187	broad.mit.edu	37	chr17	8049698	8049698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggatctttacctttcttgGtccccacagagactggacct	7	14	8	12	0	2	1	0	0	2	1	3	4	3	3	4	3	1	0	4	3	1	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:8049698G>A	ENST00000317276.4	-	16	2267	c.2030C>T	c.(2029-2031)aCc>aTc	p.T677I	PER1_ENST00000581082.1_Missense_Mutation_p.T657I|PER1_ENST00000578089.1_5'UTR|PER1_ENST00000354903.5_Missense_Mutation_p.T661I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	677	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCTTTCTTGGTCCCCACAGA	0.592			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					11	168					0	0	0	0	A	8049698	G	A	8049698	3	1	345	1	0	0	0	0	1	0	0	0	11800	1261	44	4	1874	4	PER1	17	8049698	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	475694	8049698	73145512	474	65335											
MYH8	4626	broad.mit.edu	37	chr17	10304953	10304953	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctgaacattcatcctcCagttttctcttcttggctgt	6	18	6	11	0	4	1	1	1	3	0	7	1	6	1	2	1	1	3	2	1	1	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:10304953C>T	ENST00000403437.2	-	23	2932	c.2838G>A	c.(2836-2838)ctG>ctA	p.L946L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	946					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTCATCCTCCAGTTTTCTCT	0.448									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				20	430					0	0	0	0	T	10304953	C	T	10304953	2	4	345	1	0	0	0	0	0	0	0	1	10111	581	21	4		4	MYH8	17	10304953	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2255255	10304953	70890257	475	65336											
DNAH9	1770	broad.mit.edu	37	chr17	11522984	11522984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagagtttcaggacagaagGgagaatctccacacttactt	14	9	9	9	0	2	3	1	0	1	3	3	5	2	4	1	2	1	1	1	2	4	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:11522984G>A	ENST00000262442.3	+	6	1304	c.1236G>A	c.(1234-1236)agG>agA	p.R412R	DNAH9_ENST00000454412.2_Silent_p.R412R|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	412	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGACAGAAGGGAGAATCTCC	0.458													19	180					0	0	0	0	A	11522984	G	A	11522984	2	1	345	1	0	0	0	0	0	0	0	1	4644	1223	43	4		4	DNAH9	17	11522984	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1218031	11522984	69672226	476	65337											
MYOCD	93649	broad.mit.edu	37	chr17	12626229	12626229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagagcccgactcgccgatGatctcaatgaaaaaattgct	15	8	8	10	3	1	3	1	2	1	1	3	5	1	3	2	0	2	1	2	0	5	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:12626229G>A	ENST00000425538.1	+	5	519	c.319G>A	c.(319-321)Gat>Aat	p.D107N	MYOCD_ENST00000395988.1_Missense_Mutation_p.D11N|MYOCD_ENST00000343344.4_Missense_Mutation_p.D107N	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	107					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACTCGCCGATGATCTCAATGA	0.458													25	228					0	0	0	0	A	12626229	G	A	12626229	3	1	345	1	0	0	0	0	1	0	0	0	10157	1290	45	2	337	2	MYOCD	17	12626229	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1103245	12626229	68568981	477	65338											
MPRIP	23164	broad.mit.edu	37	chr17	17075092	17075092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagaagaagattgaagatCtccagaggcagcaccagcgg	15	4	12	10	1	1	6	0	1	1	5	2	6	1	6	3	2	2	2	3	2	3	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:17075092C>T	ENST00000395811.5	+	16	2313	c.2224C>T	c.(2224-2226)Ctc>Ttc	p.L742F	MPRIP_ENST00000444976.1_Missense_Mutation_p.L704F|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Missense_Mutation_p.L742F|MPRIP_ENST00000341712.4_Missense_Mutation_p.L742F	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	742	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATTGAAGATCTCCAGAGGCA	0.542													8	130					0	0	0	0	T	17075092	C	T	17075092	3	4	345	1	0	0	0	0	1	0	0	0	9813	913	32	2	2286	2	MPRIP	17	17075092	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	4448863	17075092	64120118	478	65339											
EFCAB5	374786	broad.mit.edu	37	chr17	28409990	28409990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattgtgatcactggcataGgctggctttatgacgtcaca	10	13	10	8	1	2	2	2	2	0	0	2	2	2	2	0	3	0	3	0	3	3	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:28409990G>A	ENST00000394835.3	+	18	3700	c.3508G>A	c.(3508-3510)Ggc>Agc	p.G1170S	EFCAB5_ENST00000320856.5_Missense_Mutation_p.G1046S|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1170							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CACTGGCATAGGCTGGCTTTA	0.498													5	80					0	0	0	0	A	28409990	G	A	28409990	3	1	345	1	0	0	0	0	1	0	0	0	4974	1000	35	4	3745	4	EFCAB5	17	28409990	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	11334898	28409990	52785220	479	65340											
RHOT1	55288	broad.mit.edu	37	chr17	30509843	30509843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtagtatggagaccatccttCctattatgaaccagtataca	13	12	7	9	0	0	2	0	1	0	1	2	3	2	2	4	1	2	3	4	1	7	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:30509843C>T	ENST00000358365.3	+	7	624	c.397C>T	c.(397-399)Cct>Tct	p.P133S	RHOT1_ENST00000581094.1_Missense_Mutation_p.P133S|RHOT1_ENST00000583994.1_Missense_Mutation_p.P6S|RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000333942.6_Missense_Mutation_p.P133S|RHOT1_ENST00000545287.2_Missense_Mutation_p.P133S|RHOT1_ENST00000394692.2_Missense_Mutation_p.P133S|RHOT1_ENST00000354266.3_Missense_Mutation_p.P112S	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	133	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GACCATCCTTCCTATTATGAA	0.338													9	167					0	0	0	0	T	30509843	C	T	30509843	3	4	345	1	0	0	0	0	1	0	0	0	13426	855	30	2	423	2	RHOT1	17	30509843	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2099853	30509843	50685367	480	65341											
TADA2A	6871	broad.mit.edu	37	chr17	35818660	35818660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtagatatctatcattcCaggttaaaggagagacaaag	15	10	11	5	0	2	2	1	0	1	2	3	4	3	3	1	3	0	2	1	3	6	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:35818660C>T	ENST00000394395.2	+	9	812	c.639C>T	c.(637-639)tcC>tcT	p.S213S	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Silent_p.S213S|TADA2A_ENST00000417170.1_Silent_p.S213S|TADA2A_ENST00000225396.6_Silent_p.S213S	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	213					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TCTATCATTCCAGGTTAAAGG	0.303													4	67					0	0	0	0	T	35818660	C	T	35818660	2	4	345	1	0	0	0	0	0	0	0	1	15601	581	21	4		4	TADA2A	17	35818660	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5308817	35818660	45376550	481	65342											
PLXDC1	57125	broad.mit.edu	37	chr17	37264407	37264407	+	Silent	SNP	G	G	A																															taaacaactgtggagttgtcGgagtagccagggttgaagtt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:37264407G>A	ENST00000315392.4	-	5	772	c.561C>T	c.(559-561)tcC>tcT	p.S187S	PLXDC1_ENST00000539608.1_Silent_p.S114S|PLXDC1_ENST00000444911.2_Silent_p.S147S|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Silent_p.S187S	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	187					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGGAGTTGTCGGAGTAGCCAG	0.522													12	180					0	0	0	0	A	37264407	G	A	37264407	2	1	345	1	0	0	0	0	0	0	0	1	12189	1103	39	1		1	PLXDC1	17	37264407	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1445747	37264407	43930803	482	65343	806	2									
PLXDC1	57125	broad.mit.edu	37	chr17	37264408	37264408	+	Missense_Mutation	SNP	G	G	A																															aaacaactgtggagttgtcgGagtagccagggttgaagttg																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:37264408G>A	ENST00000315392.4	-	5	771	c.560C>T	c.(559-561)tCc>tTc	p.S187F	PLXDC1_ENST00000539608.1_Missense_Mutation_p.S114F|PLXDC1_ENST00000444911.2_Missense_Mutation_p.S147F|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.S187F	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	187					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGAGTTGTCGGAGTAGCCAGG	0.527													13	175					0	0	0	0	A	37264408	G	A	37264408	3	1	345	1	0	0	0	0	1	0	0	0	12189	1174	41	2	982	2	PLXDC1	17	37264408	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	37264408	43930802	483	65344	806	2									
MED1	5469	broad.mit.edu	37	chr17	37565432	37565432	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttccctcagtgtctgcCttcttccgctttggaggctt	3	16	9	13	1	3	0	1	0	2	0	5	2	5	1	3	2	1	2	3	2	0	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:37565432C>T	ENST00000300651.6	-	17	3265	c.3042G>A	c.(3040-3042)aaG>aaA	p.K1014K	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1014	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CAGTGTCTGCCTTCTTCCGCT	0.512										HNSCC(31;0.082)			7	151					0	0	0	0	T	37565432	C	T	37565432	2	4	345	1	0	0	0	0	0	0	0	1	9494	680	24	4		4	MED1	17	37565432	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	301024	37565432	43629778	484	65345											
KRT35	3886	broad.mit.edu	37	chr17	39637133	39637133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtagcgaagcctccagcagGgaggcagagagcagggaggc	11	2	19	9	1	0	1	0	0	0	1	1	5	1	3	2	5	4	4	2	5	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:39637133G>A	ENST00000246639.2	-	1	259	c.127C>T	c.(127-129)Cct>Tct	p.P43S	KRT35_ENST00000393989.1_Missense_Mutation_p.P73S			Q92764	KRT35_HUMAN	keratin 35	73	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCTCCAGCAGGGAGGCAGAGA	0.612													4	62					0	0	0	0	A	39637133	G	A	39637133	3	1	345	1	0	0	0	0	1	0	0	0	8524	1232	43	4	1178	4	KRT35	17	39637133	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2071701	39637133	41558077	485	65346											
ITGA2B	3674	broad.mit.edu	37	chr17	42452042	42452042	+	Silent	SNP	G	G	A																															ctcacctgagcttcccctcgGggcaggctgagcgggggcac																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:42452042G>A	ENST00000262407.5	-	28	2959	c.2928C>T	c.(2926-2928)ccC>ccT	p.P976P	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	976					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CTTCCCCTCGGGGCAGGCTGA	0.632													4	73					0	0	0	0	A	42452042	G	A	42452042	2	1	345	1	0	0	0	0	0	0	0	1	7929	1219	43	4		4	ITGA2B	17	42452042	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2814909	42452042	38743168	486	65347	807	2									
ITGA2B	3674	broad.mit.edu	37	chr17	42452043	42452043	+	Missense_Mutation	SNP	G	G	A																															tcacctgagcttcccctcggGgcaggctgagcgggggcacc																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:42452043G>A	ENST00000262407.5	-	28	2958	c.2927C>T	c.(2926-2928)cCc>cTc	p.P976L	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	976					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TTCCCCTCGGGGCAGGCTGAG	0.637													4	74					0	0	0	0	A	42452043	G	A	42452043	3	1	345	1	0	0	0	0	1	0	0	0	7929	1232	43	4	204	4	ITGA2B	17	42452043	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	42452043	38743167	487	65348	807	2									
GPATCH8	23131	broad.mit.edu	37	chr17	42475680	42475680	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgactgctgctatccagGgactccagggtgtccccatc	6	9	12	14	0	0	1	0	1	0	0	4	2	3	2	4	3	2	3	4	3	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:42475680G>A	ENST00000434000.1	-	9	3813	c.3531C>T	c.(3529-3531)tcC>tcT	p.S1177S	GPATCH8_ENST00000591680.1_Silent_p.S1255S			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1255						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCTATCCAGGGACTCCAGGG	0.597													13	278					0	0	0	0	A	42475680	G	A	42475680	2	1	345	1	0	0	0	0	0	0	0	1	6643	1219	43	4		4	GPATCH8	17	42475680	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	23637	42475680	38719530	488	65349											
MPO	4353	broad.mit.edu	37	chr17	56350966	56350966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cattgtaggaacggtacgtgGgcaggtacttcctcatggcc	8	10	13	10	2	1	0	1	0	0	0	2	1	2	1	2	5	3	4	2	5	4	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:56350966G>A	ENST00000340482.3	-	8	1702	c.1526C>T	c.(1525-1527)cCc>cTc	p.P509L	MPO_ENST00000225275.3_Missense_Mutation_p.P477L			P05164	PERM_HUMAN	myeloperoxidase	477					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	ACGGTACGTGGGCAGGTACTT	0.562													7	196					0	0	0	0	A	56350966	G	A	56350966	3	1	345	1	0	0	0	0	1	0	0	0	9802	1232	43	4	823	4	MPO	17	56350966	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	13875286	56350966	24844244	489	65350											
MRC2	9902	broad.mit.edu	37	chr17	60757608	60757608	+	Silent	SNP	C	C	T																															gcggtgctggacctggcctcCctgcagtgggtggccatgca																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:60757608C>T	ENST00000303375.5	+	15	2778	c.2376C>T	c.(2374-2376)tcC>tcT	p.S792S		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	792	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACCTGGCCTCCCTGCAGTGGG	0.652													4	63					0	0	0	0	T	60757608	C	T	60757608	2	4	345	1	0	0	0	0	0	0	0	1	9828	610	22	4		4	MRC2	17	60757608	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	4406642	60757608	20437602	490	65351	808	2									
MRC2	9902	broad.mit.edu	37	chr17	60757609	60757609	+	Silent	SNP	C	C	T																															cggtgctggacctggcctccCtgcagtgggtggccatgcag																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:60757609C>T	ENST00000303375.5	+	15	2779	c.2377C>T	c.(2377-2379)Ctg>Ttg	p.L793L		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	793	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCTGGCCTCCCTGCAGTGGGT	0.652													4	64					0	0	0	0	T	60757609	C	T	60757609	2	4	345	1	0	0	0	0	0	0	0	1	9828	680	24	4		4	MRC2	17	60757609	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1	60757609	20437601	491	65352	808	2									
TANC2	26115	broad.mit.edu	37	chr17	61499145	61499145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgggtctcgtggagacctCttggagcgagtcagccaggc	8	7	15	11	3	3	1	1	0	2	1	4	4	3	2	2	4	3	0	2	4	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:61499145C>T	ENST00000424789.2	+	25	5806	c.5802C>T	c.(5800-5802)ctC>ctT	p.L1934L	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.L1944L	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1934							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GTGGAGACCTCTTGGAGCGAG	0.542													8	106					0	0	0	0	T	61499145	C	T	61499145	2	4	345	1	0	0	0	0	0	0	0	1	15636	900	32	2		2	TANC2	17	61499145	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	741536	61499145	19696065	492	65353											
ABCA10	10349	broad.mit.edu	37	chr17	67151948	67151948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctaatccctgctgttcacctCctccaagtttggagcagtga	8	12	8	13	0	1	1	1	1	0	0	4	2	4	2	4	1	2	4	4	1	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:67151948C>T	ENST00000269081.4	-	30	4483	c.3574G>A	c.(3574-3576)Gag>Aag	p.E1192K	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1192					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTGTTCACCTCCTCCAAGTTT	0.413													14	245					0	0	0	0	T	67151948	C	T	67151948	3	4	345	1	0	0	0	0	1	0	0	0	29	864	30	2	1101	2	ABCA10	17	67151948	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5652803	67151948	14043262	493	65354											
UNC13D	201294	broad.mit.edu	37	chr17	73836179	73836179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcggctgcgagcggctggCcgaagtggctctctgcaatg	5	8	16	12	4	1	0	0	0	1	0	3	2	1	0	1	4	3	5	1	4	2	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:73836179C>T	ENST00000207549.4	-	11	1250	c.871G>A	c.(871-873)Gcc>Acc	p.A291T	UNC13D_ENST00000412096.2_Missense_Mutation_p.A291T|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	291	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCGGCTGGCCGAAGTGGCT	0.662									Familial Hemophagocytic Lymphohistiocytosis				3	34					0	0	0	0	T	73836179	C	T	73836179	3	4	345	1	0	0	0	0	1	0	0	0	17083	739	26	4	2489	4	UNC13D	17	73836179	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	6684231	73836179	7359031	494	65355											
TMC8	147138	broad.mit.edu	37	chr17	76130015	76130015	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccaaggtcttctcctcatgGgacttctgcatccgggtgca	6	11	11	13	1	4	0	1	0	3	0	6	1	5	1	3	3	2	2	3	3	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:76130015G>A	ENST00000318430.5	+	7	1124	c.750G>A	c.(748-750)tgG>tgA	p.W250*	TMC8_ENST00000589691.1_Nonsense_Mutation_p.W27*	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	250						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TCTCCTCATGGGACTTCTGCA	0.592													5	70					0	0	0	0	A	76130015	G	A	76130015	4	1	345	1	0	0	0	0	0	1	0	0	16085	1241	43	4	772	4	TMC8	17	76130015	Nonsense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2293836	76130015	5065195	495	65356											
DNAH17	8632	broad.mit.edu	37	chr17	76455952	76455952	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtccaccttgcccatcatGatcttggccgccttccagct	5	12	8	16	1	2	1	1	1	1	0	4	1	4	1	6	1	2	1	6	1	0	3	rs146469560		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:76455952G>A	ENST00000389840.5	-	60	9649	c.9525C>T	c.(9523-9525)atC>atT	p.I3175I	DNAH17_ENST00000585328.1_Silent_p.I3184I|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCCCATCATGATCTTGGCCG	0.607													7	89					0	0	0	0	A	76455952	G	A	76455952	2	1	345	1	0	0	0	0	0	0	0	1	4638	1280	45	2		2	DNAH17	17	76455952	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	325937	76455952	4739258	496	65357											
RPTOR	57521	broad.mit.edu	37	chr17	78882691	78882691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acccctatccagaggtctcgGacgtggccatgaaagtactc	10	8	10	13	2	1	2	0	1	1	1	4	3	2	3	4	3	1	1	4	3	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:78882691G>A	ENST00000306801.3	+	21	2844	c.2482G>A	c.(2482-2484)Gac>Aac	p.D828N	RPTOR_ENST00000544334.2_Missense_Mutation_p.D670N|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	828					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGAGGTCTCGGACGTGGCCAT	0.552													19	346					0	0	0	0	A	78882691	G	A	78882691	3	1	345	1	0	0	0	0	1	0	0	0	13750	1174	41	2	2564	2	RPTOR	17	78882691	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2426739	78882691	2312519	497	65358											
FASN	2194	broad.mit.edu	37	chr17	80037284	80037284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgccgtaggcgccacccgtCttggcgcgcagtagcatcac	6	7	12	16	6	2	0	1	0	1	0	3	0	2	0	3	2	1	4	3	2	2	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr17:80037284C>T	ENST00000306749.2	-	42	7565	c.7347G>A	c.(7345-7347)aaG>aaA	p.K2449K	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2449	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CGCCACCCGTCTTGGCGCGCA	0.652													5	75					0	0	0	0	T	80037284	C	T	80037284	2	4	345	1	0	0	0	0	0	0	0	1	5728	912	32	2		2	FASN	17	80037284	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1154593	80037284	1157926	498	65359											
PPP4R1	9989	broad.mit.edu	37	chr18	9559565	9559565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgagaagggtcagtcataGataaatactgatctaacaac	17	8	8	8	1	3	3	2	1	1	2	3	4	3	3	0	1	3	0	0	1	7	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr18:9559565G>A	ENST00000400556.3	-	14	1953	c.1880C>T	c.(1879-1881)tCt>tTt	p.S627F	PPP4R1_ENST00000400555.3_Missense_Mutation_p.S610F	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	627					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GTCAGTCATAGATAAATACTG	0.458													10	148					0	0	0	0	A	9559565	G	A	9559565	3	1	345	1	0	0	0	0	1	0	0	0	12479	942	33	2	1000	2	PPP4R1	18	9559565	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08		9559565	68517683	499	65360											
DCC	1630	broad.mit.edu	37	chr18	50683730	50683730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttctttctccttagctatCccaagctccagtgtcctccc	5	15	4	17	0	3	0	0	0	3	0	8	0	7	0	5	0	2	2	5	0	3	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr18:50683730C>T	ENST00000442544.2	+	8	1882	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	DCC_ENST00000581580.1_Silent_p.I77I|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000412726.1_Silent_p.I270I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	422					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTTAGCTATCCCAAGCTCCA	0.547													8	167					0	0	0	0	T	50683730	C	T	50683730	2	4	345	1	0	0	0	0	0	0	0	1	4314	845	30	2		2	DCC	18	50683730	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	41124165	50683730	27393518	500	65361											
ZNF556	80032	broad.mit.edu	37	chr19	2877723	2877723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgatgatgcacgccggagGgagaccgtatgagtgcaagc	10	7	16	8	3	0	4	0	3	0	1	0	6	0	5	2	2	3	3	2	2	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:2877723G>A	ENST00000586426.1	+	4	851	c.764G>A	c.(763-765)gGg>gAg	p.G255E	ZNF556_ENST00000307635.2_Missense_Mutation_p.G256E			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CACGCCGGAGGGAGACCGTAT	0.537													4	69					0	0	0	0	A	2877723	G	A	2877723	3	1	345	1	0	0	0	0	1	0	0	0	18082	1232	43	4	781	4	ZNF556	19	2877723	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08		2877723	56251260	501	65362											
UBXN6	80700	broad.mit.edu	37	chr19	4454089	4454089	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctctttgtgggccttttCcctgggaacagaccgaggga	6	12	12	11	1	1	1	0	0	1	1	3	4	2	3	3	3	1	0	3	3	1	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:4454089C>T	ENST00000301281.6	-	2	209	c.83_splice	c.e2-1	p.E29_splice	UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	29						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TGGGCCTTTTCCCTGGGAACA	0.662													9	216					0	0	0	0	T	4454089	C	T	4454089	5	4	345	1	0	0	0	0	0	0	1	0	17013	869	30	2	1280	2	UBXN6	19	4454089	Splice_Site	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1576366	4454089	54674894	502	65363											
ARRDC5	645432	broad.mit.edu	37	chr19	4896812	4896812	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagacatggccaaatttgctGgtgaaggtagaaggaagcct	14	8	13	6	0	0	3	0	1	0	2	0	4	0	4	2	4	2	2	2	4	6	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:4896812G>A	ENST00000381781.2	-	2	371	c.372C>T	c.(370-372)acC>acT	p.T124T		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	124					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CAAATTTGCTGGTGAAGGTAG	0.448													6	126					0	0	0	0	A	4896812	G	A	4896812	2	1	345	1	0	0	0	0	0	0	0	1	990	1335	47	4		4	ARRDC5	19	4896812	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	442723	4896812	54232171	503	65364											
SAFB	6294	broad.mit.edu	37	chr19	5626462	5626462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgacgaaattgaaattacctCcgagggaaacaagaaaacat	19	7	8	7	2	0	3	0	2	0	1	1	6	1	4	2	1	3	0	2	1	7	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:5626462C>T	ENST00000292123.5	+	2	343	c.236C>T	c.(235-237)tCc>tTc	p.S79F	SAFB_ENST00000454510.1_Missense_Mutation_p.S79F|SAFB_ENST00000538656.1_Missense_Mutation_p.P13S|SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000588852.1_Missense_Mutation_p.S79F|SAFB_ENST00000592224.1_Missense_Mutation_p.S79F	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	79					chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GAAATTACCTCCGAGGGAAAC	0.373													7	91					0	0	0	0	T	5626462	C	T	5626462	3	4	345	1	0	0	0	0	1	0	0	0	13891	855	30	2	242	2	SAFB	19	5626462	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	729650	5626462	53502521	504	65365											
CCL25	6370	broad.mit.edu	37	chr19	8122782	8122782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagtaagaggaatgtctcCctcctgatatcagctaattc	12	11	8	10	0	2	2	1	1	1	1	5	3	3	3	2	1	2	3	2	1	4	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:8122782C>T	ENST00000253451.4	+	5	526	c.420C>T	c.(418-420)tcC>tcT	p.S140S	CCL25_ENST00000390669.3_Silent_p.S141S	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	141					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						ggaatgtctccctcctgatat	0.483													7	114					0	0	0	0	T	8122782	C	T	8122782	2	4	345	1	0	0	0	0	0	0	0	1	2924	610	22	4		4	CCL25	19	8122782	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2496320	8122782	51006201	505	65366											
MUC16	94025	broad.mit.edu	37	chr19	9047026	9047026	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atatcaggtgagatagttgtCgttgaaacagctgaactggc	12	11	12	6	1	1	3	1	3	0	1	2	4	1	3	0	2	3	3	0	2	4	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:9047026C>G	ENST00000397910.4	-	5	34808	c.34605G>C	c.(34603-34605)acG>acC	p.T11535T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11537	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						AGATAGTTGTCGTTGAAACAG	0.507													7	102					0	0	0	0	G	9047026	C	G	9047026	2	3	345	1	0	0	0	0	0	0	0	1	10043	871	31	3		3	MUC16	19	9047026	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	924244	9047026	50081957	506	65367											
MUC16	94025	broad.mit.edu	37	chr19	9073129	9073129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaactgaggacatagaaaCaggagaggaggtactgtgcc	16	5	14	6	0	0	4	0	1	0	3	0	7	0	6	1	4	4	1	1	4	5	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:9073129C>T	ENST00000397910.4	-	3	14520	c.14317G>A	c.(14317-14319)Gtt>Att	p.V4773I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4775	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						GACATAGAAACAGGAGAGGAG	0.478													7	102					0	0	0	0	T	9073129	C	T	9073129	3	4	345	1	0	0	0	0	1	0	0	0	10043	478	17	4	29534	4	MUC16	19	9073129	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	26103	9073129	50055854	507	65368											
MUC16	94025	broad.mit.edu	37	chr19	9077258	9077258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtggagggaatggctgtGgtgcttacccatgtctcggt	7	11	15	8	1	1	0	0	0	1	0	2	2	1	2	1	5	2	2	1	5	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:9077258G>A	ENST00000397910.4	-	3	10391	c.10188C>T	c.(10186-10188)acC>acT	p.T3396T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3397	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						GAATGGCTGTGGTGCTTACCC	0.438													15	295					0	0	0	0	A	9077258	G	A	9077258	2	1	345	1	0	0	0	0	0	0	0	1	10043	1335	47	4		4	MUC16	19	9077258	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	4129	9077258	50051725	508	65369											
MUC16	94025	broad.mit.edu	37	chr19	9080472	9080472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgctggactgctccccgtctCctctgctggggcaggccacg	3	9	13	16	2	2	0	0	0	2	0	4	1	3	1	4	4	3	4	4	4	0	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:9080472C>T	ENST00000397910.4	-	2	9762	c.9559G>A	c.(9559-9561)Gag>Aag	p.E3187K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3188	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						CTCCCCGTCTCCTCTGCTGGG	0.473													5	110					0	0	0	0	T	9080472	C	T	9080472	3	4	345	1	0	0	0	0	1	0	0	0	10043	864	30	2	34296	2	MUC16	19	9080472	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3214	9080472	50048511	509	65370											
MUC16	94025	broad.mit.edu	37	chr19	9083683	9083683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttactccttggatagtgattCcagggatgctcctatctggg	7	14	11	9	0	1	1	0	1	1	0	4	3	4	3	3	3	2	1	3	3	3	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:9083683C>T	ENST00000397910.4	-	1	8335	c.8132G>A	c.(8131-8133)gGa>gAa	p.G2711E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2711	Ser-rich.|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						GATAGTGATTCCAGGGATGCT	0.478													8	136					0	0	0	0	T	9083683	C	T	9083683	3	4	345	1	0	0	0	0	1	0	0	0	10043	855	30	2	35727	2	MUC16	19	9083683	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3211	9083683	50045300	510	65371											
ZNF763	284390	broad.mit.edu	37	chr19	12089398	12089398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attatatcttatccatgaaaGaactcacactggagagaaac	17	10	6	8	0	2	3	1	1	1	2	3	5	3	4	1	1	2	0	1	1	6	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:12089398G>A	ENST00000343949.5	+	4	823	c.668G>A	c.(667-669)aGa>aAa	p.R223K	ZNF763_ENST00000538752.1_Missense_Mutation_p.R240K|ZNF763_ENST00000358987.3_Missense_Mutation_p.R220K|ZNF763_ENST00000545530.1_Missense_Mutation_p.R98K|ZNF763_ENST00000590798.1_Missense_Mutation_p.R240K	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATCCATGAAAGAACTCACACT	0.383													9	126					0	0	0	0	A	12089398	G	A	12089398	3	1	345	1	0	0	0	0	1	0	0	0	18231	942	33	2	682	2	ZNF763	19	12089398	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3005715	12089398	47039585	511	65372											
EMR3	84658	broad.mit.edu	37	chr19	14741007	14741007	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagctgagctgttgctttGaaagccagcatcctgggagg	10	9	14	8	0	0	3	0	2	0	1	1	4	1	4	2	2	5	5	2	2	2	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:14741007G>A	ENST00000253673.5	-	14	1756	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	EMR3_ENST00000443157.2_Silent_p.F426F|EMR3_ENST00000599900.1_Silent_p.F337F|EMR3_ENST00000344373.4_Silent_p.F500F	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	552					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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						CTGTTGCTTTGAAAGCCAGCA	0.493													5	76					0	0	0	0	A	14741007	G	A	14741007	2	1	345	1	0	0	0	0	0	0	0	1	5144	1281	45	2		2	EMR3	19	14741007	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2651609	14741007	44387976	512	65373											
FKBP8	23770	broad.mit.edu	37	chr19	18648428	18648428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccttgcccttgcggaagaGagccttgatgttgtctggct	6	13	12	10	1	1	2	0	1	1	1	1	4	1	3	3	2	4	2	3	2	2	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:18648428G>C	ENST00000597960.2	-	6	1048	c.928C>G	c.(928-930)Ctc>Gtc	p.L310V	FKBP8_ENST00000544835.2_Missense_Mutation_p.L150V|FKBP8_ENST00000453489.2_Missense_Mutation_p.L338V|FKBP8_ENST00000596558.1_Missense_Mutation_p.L309V|FKBP8_ENST00000222308.3_Missense_Mutation_p.L310V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	309					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TTGCGGAAGAGAGCCTTGATG	0.637													5	39					0	0	0	0	C	18648428	G	C	18648428	3	2	345	1	0	0	0	0	1	0	0	0	5959	942	33	2	329	2	FKBP8	19	18648428	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	3907421	18648428	40480555	513	65374											
FKBP8	23770	broad.mit.edu	37	chr19	18649037	18649037	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcggtcacctttggcgctgGaggtgatagccttgatggcg	5	10	17	9	3	1	2	1	2	0	0	1	3	1	3	2	6	1	1	2	6	1	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:18649037G>C	ENST00000597960.2	-	5	881	c.761C>G	c.(760-762)tCc>tGc	p.S254C	FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000453489.2_Missense_Mutation_p.S282C|FKBP8_ENST00000596558.1_Missense_Mutation_p.S253C|FKBP8_ENST00000222308.3_Missense_Mutation_p.S254C			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	253					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TTTGGCGCTGGAGGTGATAGC	0.637													7	131					0	0	0	0	C	18649037	G	C	18649037	3	2	345	1	0	0	0	0	1	0	0	0	5959	1174	41	2	500	2	FKBP8	19	18649037	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	609	18649037	40479946	514	65375											
UPF1	5976	broad.mit.edu	37	chr19	18967057	18967057	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggagctgtcgtctgccgAcgagaagcggtaccgggcct	6	7	17	11	5	1	1	0	0	1	1	2	4	1	2	3	4	4	2	3	4	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:18967057A>G	ENST00000262803.5	+	13	2044	c.1772A>G	c.(1771-1773)gAc>gGc	p.D591G	UPF1_ENST00000599848.1_Missense_Mutation_p.D602G	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	602					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCGTCTGCCGACGAGAAGCGG	0.627													5	64					0	0	0	0	G	18967057	A	G	18967057	3	3	345	1	0	0	0	0	1	0	0	0	17099	275	10	5	1822	5	UPF1	19	18967057	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	318020	18967057	40161926	515	65376											
ATP13A1	57130	broad.mit.edu	37	chr19	19760591	19760591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgaacacctgcacatgggGgatgaggcggagcagctgct	9	5	17	10	2	0	1	0	1	0	0	0	4	0	3	1	5	5	4	1	5	1	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:19760591G>T	ENST00000357324.6	-	18	2520	c.2494C>A	c.(2494-2496)Ccc>Acc	p.P832T	ATP13A1_ENST00000291503.5_Missense_Mutation_p.P714T	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	832					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGCACATGGGGGATGAGGCGG	0.677													6	107					0.0215528	0.0215835	1	0	T	19760591	G	T	19760591	3	4	345	1	0	0	0	0	1	0	0	0	1127	1232	43	4	1156	4	ATP13A1	19	19760591	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	793534	19760591	39368392	516	65377											
ZNF506	440515	broad.mit.edu	37	chr19	19917754	19917754	+	Missense_Mutation	SNP	G	G	A																															actcaagttatcctcaccaaGgaagatcaggtttctgtagt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:19917754G>A	ENST00000443905.2	-	2	274	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587452.1_Missense_Mutation_p.L43F|ZNF506_ENST00000587461.1_Missense_Mutation_p.L43F|ZNF506_ENST00000545006.1_Missense_Mutation_p.L43F|ZNF506_ENST00000540806.2_Missense_Mutation_p.L43F|ZNF506_ENST00000450683.2_Missense_Mutation_p.L43F|CTC-559E9.6_ENST00000591884.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TCCTCACCAAGGAAGATCAGG	0.363													8	156					0	0	0	0	A	19917754	G	A	19917754	3	1	345	1	0	0	0	0	1	0	0	0	18047	1000	35	4	1219	4	ZNF506	19	19917754	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	157163	19917754	39211229	517	65378	809	2									
ZNF506	440515	broad.mit.edu	37	chr19	19917755	19917755	+	Silent	SNP	G	G	A																															ctcaagttatcctcaccaagGaagatcaggtttctgtagtt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:19917755G>A	ENST00000443905.2	-	2	273	c.126C>T	c.(124-126)ttC>ttT	p.F42F	CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587452.1_Silent_p.F42F|ZNF506_ENST00000587461.1_Silent_p.F42F|ZNF506_ENST00000545006.1_Silent_p.F42F|ZNF506_ENST00000540806.2_Silent_p.F42F|ZNF506_ENST00000450683.2_Silent_p.F42F|CTC-559E9.6_ENST00000591884.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CCTCACCAAGGAAGATCAGGT	0.363													8	161					0	0	0	0	A	19917755	G	A	19917755	2	1	345	1	0	0	0	0	0	0	0	1	18047	1165	41	2		2	ZNF506	19	19917755	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	19917755	39211228	518	65379	809	2									
ZNF536	9745	broad.mit.edu	37	chr19	30936019	30936019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggctgcggagatggaccCcgtgaacagctaccaggctt	10	6	13	12	2	0	2	0	1	0	1	0	4	0	3	3	4	4	3	3	4	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:30936019C>T	ENST00000355537.3	+	2	1697	c.1550C>T	c.(1549-1551)cCc>cTc	p.P517L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAGATGGACCCCGTGAACAGC	0.617													7	123					0	0	0	0	T	30936019	C	T	30936019	3	4	345	1	0	0	0	0	1	0	0	0	18069	623	22	4	1552	4	ZNF536	19	30936019	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	11018264	30936019	28192964	519	65380											
SCN1B	6324	broad.mit.edu	37	chr19	35523587	35523587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccgccagaagggcactgagGagtttgtcaaggtgtgcggg	8	8	17	8	2	1	2	1	1	0	1	2	3	2	3	2	4	1	2	2	4	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:35523587G>A	ENST00000262631.5	+	2	333	c.196G>A	c.(196-198)Gag>Aag	p.E66K	SCN1B_ENST00000415950.3_Missense_Mutation_p.E66K|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Missense_Mutation_p.E66K	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	66	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGCACTGAGGAGTTTGTCAA	0.612													11	185					0	0	0	0	A	35523587	G	A	35523587	3	1	345	1	0	0	0	0	1	0	0	0	14002	1175	41	2	202	2	SCN1B	19	35523587	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	4587568	35523587	23605396	520	65381											
APLP1	333	broad.mit.edu	37	chr19	36369999	36369999	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagctgggacaggggtgtcCcgtgaggctgtgtcgggtct	4	9	18	10	2	1	1	0	1	1	0	3	2	2	2	2	5	1	2	2	5	0	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:36369999C>T	ENST00000221891.4	+	16	1929	c.1737C>T	c.(1735-1737)tcC>tcT	p.S579S	APLP1_ENST00000586861.1_Silent_p.S572S|APLP1_ENST00000537454.2_Silent_p.S539S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	578					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGGGGTGTCCCGTGAGGCTG	0.642													7	64					0	0	0	0	T	36369999	C	T	36369999	2	4	345	1	0	0	0	0	0	0	0	1	780	610	22	4		4	APLP1	19	36369999	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	846412	36369999	22758984	521	65382											
ZNF571	51276	broad.mit.edu	37	chr19	38056756	38056756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catacactcataaggtttctCaccagtctgaattctctgat	11	14	5	11	0	4	2	2	2	3	0	6	2	4	2	1	1	1	1	1	1	3	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:38056756C>T	ENST00000328550.2	-	4	673	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000593133.1_Missense_Mutation_p.E192K|ZNF571_ENST00000358744.3_Missense_Mutation_p.E192K|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000451802.2_Missense_Mutation_p.E192K|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAGGTTTCTCACCAGTCTGA	0.348													5	75					0	0	0	0	T	38056756	C	T	38056756	3	4	345	1	0	0	0	0	1	0	0	0	18098	835	29	2	1259	2	ZNF571	19	38056756	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1686757	38056756	21072227	522	65383											
PRX	57716	broad.mit.edu	37	chr19	40900137	40900137	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acacgtggcaagcggacccgGacccggccccggcgacccga	8	1	14	18	7	0	0	0	0	0	0	0	4	0	2	5	5	1	1	5	5	1	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:40900137G>A	ENST00000324001.7	-	7	4392	c.4122C>T	c.(4120-4122)gtC>gtT	p.V1374V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1374					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCGGACCCGGACCCGGCCCC	0.701													6	53					0	0	0	0	A	40900137	G	A	40900137	2	1	345	1	0	0	0	0	0	0	0	1	12721	1161	41	2		2	PRX	19	40900137	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2843381	40900137	18228846	523	65384											
CYP2A7	1549	broad.mit.edu	37	chr19	41381746	41381746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagagaaagagctccattCtggccaggccttctccgaaa	13	7	10	11	1	2	3	0	0	2	3	4	5	3	3	4	2	1	1	4	2	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:41381746C>T	ENST00000301146.4	-	9	1878	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	CYP2A7_ENST00000291764.3_Missense_Mutation_p.R395K|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	446						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGCTCCATTCTGGCCAGGCC	0.587													5	66					0	0	0	0	T	41381746	C	T	41381746	3	4	345	1	0	0	0	0	1	0	0	0	4195	913	32	2	151	2	CYP2A7	19	41381746	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	481609	41381746	17747237	524	65385											
PSG3	5671	broad.mit.edu	37	chr19	43233294	43233294	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagactttgactgtcatGgatttggagctttccatgcc	8	13	10	10	0	1	2	1	1	0	1	2	5	2	4	3	2	2	1	3	2	0	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:43233294G>A	ENST00000327495.5	-	5	1408	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	PSG3_ENST00000595140.1_Silent_p.S408S	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	408	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region		p.S408S(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGACTGTCATGGATTTGGAGC	0.463													17	288					0	0	0	0	A	43233294	G	A	43233294	2	1	345	1	0	0	0	0	0	0	0	1	12735	1335	47	4		4	PSG3	19	43233294	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1851548	43233294	15895689	525	65386											
RTN2	6253	broad.mit.edu	37	chr19	45997427	45997427	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatacacgttgcttacctaGaaggcgtggctccaccgtga	9	10	10	12	3	1	2	1	1	0	1	2	2	2	2	3	2	3	3	3	2	4	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:45997427G>A	ENST00000245923.4	-	4	1046	c.811C>T	c.(811-813)Cta>Tta	p.L271L	RTN2_ENST00000344680.4_Silent_p.L271L|RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	271						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGCTTACCTAGAAGGCGTGGC	0.512													15	237					0	0	0	0	A	45997427	G	A	45997427	2	1	345	1	0	0	0	0	0	0	0	1	13811	933	33	2		2	RTN2	19	45997427	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2764133	45997427	13131556	526	65387											
GPR4	2828	broad.mit.edu	37	chr19	46094693	46094693	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagttggcgcccagctcCgtggcccagaccacggagct	6	5	14	16	4	0	1	0	0	0	1	1	3	1	2	5	3	2	3	5	3	0	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:46094693C>T	ENST00000323040.4	-	2	1376	c.432G>A	c.(430-432)acG>acA	p.T144T	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	144						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCCGTGGCCCAGA	0.672													8	127					0	0	0	0	T	46094693	C	T	46094693	2	4	345	1	0	0	0	0	0	0	0	1	6743	639	23	1		1	GPR4	19	46094693	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	97266	46094693	13034290	527	65388											
CCDC8	83987	broad.mit.edu	37	chr19	46915888	46915888	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgggtgcggggtgctcttCtccatgatgcgggccacgtc	3	9	17	12	4	2	1	0	1	2	0	4	1	2	1	2	5	3	1	2	5	0	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:46915888C>T	ENST00000307522.3	-	1	953	c.180G>A	c.(178-180)gaG>gaA	p.E60E		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	60						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		gggtgctcttctccatgatgc	0.657													6	90					0	0	0	0	T	46915888	C	T	46915888	2	4	345	1	0	0	0	0	0	0	0	1	2880	912	32	2		2	CCDC8	19	46915888	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	821195	46915888	12213095	528	65389											
PNMAL2	57469	broad.mit.edu	37	chr19	46997421	46997421	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcgctccagcccccgaaGaggccacgcccagccttctt	6	7	9	19	3	1	1	0	0	1	1	3	2	2	1	6	1	3	2	6	1	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:46997421G>A	ENST00000599531.1	-	1	2334	c.1302C>T	c.(1300-1302)ctC>ctT	p.L434L	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	434										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGCCCCCGAAGAGGCCACGCC	0.672													4	66					0	0	0	0	A	46997421	G	A	46997421	2	1	345	1	0	0	0	0	0	0	0	1	12230	929	33	2		2	PNMAL2	19	46997421	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	81533	46997421	12131562	529	65390											
PNMAL2	57469	broad.mit.edu	37	chr19	46998332	46998332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcctgcgtctccgaagcggGaggggtgggtgcctccccgg	3	6	19	13	4	1	0	0	0	1	0	3	2	2	1	5	6	3	0	5	6	1	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:46998332G>A	ENST00000599531.1	-	1	1423	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Missense_Mutation_p.G148E|PNMAL2_ENST00000377655.2_Missense_Mutation_p.P131S	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	131										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCCGAAGCGGGAGGGGTGGGT	0.711													7	139					0	0	0	0	A	46998332	G	A	46998332	3	1	345	1	0	0	0	0	1	0	0	0	12230	1174	41	2	1520	2	PNMAL2	19	46998332	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	911	46998332	12130651	530	65391											
TULP2	7288	broad.mit.edu	37	chr19	49398633	49398633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcgcaaatacctgcttctgtCcgcggtgtcgggaggccgcg	5	9	14	13	6	1	0	0	0	1	0	4	1	2	1	3	3	2	2	3	3	2	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:49398633C>T	ENST00000221399.3	-	5	483	c.339G>A	c.(337-339)cgG>cgA	p.R113R		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	113					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CTGCTTCTGTCCGCGGTGTCG	0.612													10	136					0	0	0	0	T	49398633	C	T	49398633	2	4	345	1	0	0	0	0	0	0	0	1	16870	842	30	2		2	TULP2	19	49398633	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2400301	49398633	9730350	531	65392											
PRMT1	3276	broad.mit.edu	37	chr19	50185211	50185211	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcacttaccgcaactcCatgtttcataaccggcacct	10	10	4	17	2	2	0	2	0	0	0	3	0	3	0	5	1	3	3	5	1	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:50185211C>T	ENST00000532489.1	+	4	605	c.99C>T	c.(97-99)tcC>tcT	p.S33S	PRMT1_ENST00000454376.2_Silent_p.S79S|PRMT1_ENST00000391851.4_Silent_p.S61S			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	60						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		ACCGCAACTCCATGTTTCATA	0.617													4	42					0	0	0	0	T	50185211	C	T	50185211	2	4	345	1	0	0	0	0	0	0	0	1	12615	581	21	4		4	PRMT1	19	50185211	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	786578	50185211	8943772	532	65393											
ZNF473	25888	broad.mit.edu	37	chr19	50548345	50548345	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatcaatgtagtgaatgtggGaaaagcttcagtgggagtta	13	12	13	3	0	2	1	2	1	0	0	2	3	2	3	0	2	1	3	0	2	7	4	rs145882419		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:50548345G>A	ENST00000595661.1	+	6	1140	c.645G>A	c.(643-645)ggG>ggA	p.G215G	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Silent_p.G215G|ZNF473_ENST00000445728.3_Silent_p.G203G|ZNF473_ENST00000270617.3_Silent_p.G215G|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	215					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTGAATGTGGGAAAAGCTTCA	0.478													6	114					0	0	0	0	A	50548345	G	A	50548345	2	1	345	1	0	0	0	0	0	0	0	1	18026	1161	41	2		2	ZNF473	19	50548345	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	363134	50548345	8580638	533	65394											
ZNF808	388558	broad.mit.edu	37	chr19	53056775	53056775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atttcctgtaggccccaaatCcatatttctaataactatgg	12	14	5	10	0	1	0	0	0	1	0	3	0	3	0	4	2	1	1	4	2	6	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:53056775C>T	ENST00000359798.4	+	5	786	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GGCCCCAAATCCATATTTCTA	0.368													18	276					0	0	0	0	T	53056775	C	T	53056775	2	4	345	1	0	0	0	0	0	0	0	1	18266	845	30	2		2	ZNF808	19	53056775	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2508430	53056775	6072208	534	65395											
ZNF701	55762	broad.mit.edu	37	chr19	53086360	53086360	+	Missense_Mutation	SNP	G	G	A																															gacataggagaattcacactGgagagaaaccatacaaatgt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:53086360G>A	ENST00000540331.1	+	5	1471	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R	ZNF701_ENST00000301093.2_Missense_Mutation_p.G416R|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.G350R	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AATTCACACTGGAGAGAAACC	0.393													11	152					0	0	0	0	A	53086360	G	A	53086360	3	1	345	1	0	0	0	0	1	0	0	0	18200	1349	47	4	1260	4	ZNF701	19	53086360	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	29585	53086360	6042623	535	65396	810	2									
ZNF701	55762	broad.mit.edu	37	chr19	53086361	53086361	+	Missense_Mutation	SNP	G	G	A																															acataggagaattcacactgGagagaaaccatacaaatgta																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:53086361G>A	ENST00000540331.1	+	5	1472	c.1247G>A	c.(1246-1248)gGa>gAa	p.G416E	ZNF701_ENST00000301093.2_Missense_Mutation_p.G416E|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.G350E	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATTCACACTGGAGAGAAACCA	0.398													11	153					0	0	0	0	A	53086361	G	A	53086361	3	1	345	1	0	0	0	0	1	0	0	0	18200	1174	41	2	1261	2	ZNF701	19	53086361	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	53086361	6042622	536	65397	810	2									
LILRA2	11027	broad.mit.edu	37	chr19	55087485	55087485	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgggtcctgtgacctcagcCcacgtggggacctacagatg	8	8	13	12	1	1	2	1	1	0	1	2	3	2	3	4	3	2	0	4	3	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:55087485C>T	ENST00000251377.3	+	7	1297	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	LILRA2_ENST00000391738.3_Silent_p.A388A|LILRA2_ENST00000251376.3_Silent_p.A388A|LILRA2_ENST00000391737.1_Silent_p.A376A|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGACCTCAGCCCACGTGGGGA	0.617													6	117					0	0	0	0	T	55087485	C	T	55087485	2	4	345	1	0	0	0	0	0	0	0	1	8839	610	22	4		4	LILRA2	19	55087485	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2001124	55087485	4041498	537	65398											
FCAR	2204	broad.mit.edu	37	chr19	55399706	55399706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgggttggctgtccaGggccttgccaccgggcagga	4	9	17	11	1	1	0	0	0	1	0	2	1	2	1	4	5	1	3	4	5	0	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:55399706G>A	ENST00000469767.1	+	4	704	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	FCAR_ENST00000353758.4_Intron|FCAR_ENST00000482092.2_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000391725.3_Intron|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000359272.4_Intron|FCAR_ENST00000355524.3_Intron|FCAR_ENST00000345937.4_Intron	NM_133279.2	NP_579813.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TGGCTGTCCAGGGCCTTGCCA	0.587													4	25					0	0	0	0	A	55399706	G	A	55399706	3	1	345	1	0	0	0	0	1	0	0	0	5818	1000	35	4	708	4	FCAR	19	55399706	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	312221	55399706	3729277	538	65399											
BRSK1	84446	broad.mit.edu	37	chr19	55816854	55816854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcaaaacgctcctggttcgGgaacttcatctccttggaca	9	10	10	12	2	2	0	1	0	1	0	5	2	3	2	2	4	2	3	2	4	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:55816854G>A	ENST00000309383.1	+	16	2067	c.1790G>A	c.(1789-1791)gGg>gAg	p.G597E	BRSK1_ENST00000326848.7_Missense_Mutation_p.G292E|BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000590333.1_Missense_Mutation_p.G613E	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	597					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCCTGGTTCGGGAACTTCATC	0.537													11	237					0	0	0	0	A	55816854	G	A	55816854	3	1	345	1	0	0	0	0	1	0	0	0	1531	1232	43	4	1852	4	BRSK1	19	55816854	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	417148	55816854	3312129	539	65400											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704077	56704077	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttcgtagcaggtcctcCaggtctttgcagctctgcac	6	14	9	12	1	2	0	0	0	2	0	5	0	4	0	2	2	4	5	2	2	2	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:56704077C>T	ENST00000586855.2	-	2	658	c.345G>A	c.(343-345)ctG>ctA	p.L115L	ZSCAN5B_ENST00000358992.3_Silent_p.L115L			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	115	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCAGGTCCTCCAGGTCTTTGC	0.542													4	69					0	0	0	0	T	56704077	C	T	56704077	2	4	345	1	0	0	0	0	0	0	0	1	18330	581	21	4		4	ZSCAN5B	19	56704077	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	887223	56704077	2424906	540	65401											
USP29	57663	broad.mit.edu	37	chr19	57641738	57641738	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtgaagtcctggaagtCtctcaggagatgatttctga	12	12	11	6	0	3	4	1	3	2	1	5	6	4	5	1	2	0	0	1	2	3	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:57641738C>A	ENST00000254181.4	+	4	2149	c.1695C>A	c.(1693-1695)gtC>gtA	p.V565V	USP29_ENST00000598197.1_Silent_p.V565V	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	565					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCTGGAAGTCTCTCAGGAGA	0.448													9	195					0.00448238	0.00450807	1	0	A	57641738	C	A	57641738	2	1	345	1	0	0	0	0	0	0	0	1	17155	900	32	2		2	USP29	19	57641738	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	937661	57641738	1487245	541	65402											
ZNF135	7694	broad.mit.edu	37	chr19	58579624	58579624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaatccttcagccacagctCctcgctcagccagcacgaaa	12	6	7	16	2	2	0	2	0	0	0	5	2	4	0	4	0	4	3	4	0	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr19:58579624C>T	ENST00000506786.1	+	5	2200	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F	ZNF135_ENST00000313434.5_Missense_Mutation_p.S591F|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Missense_Mutation_p.S603F|ZNF135_ENST00000439855.2_Missense_Mutation_p.S591F|ZNF135_ENST00000401053.4_Missense_Mutation_p.S615F			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	603					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGCCACAGCTCCTCGCTCAGC	0.552													8	137					0	0	0	0	T	58579624	C	T	58579624	3	4	345	1	0	0	0	0	1	0	0	0	17820	855	30	2	1975	2	ZNF135	19	58579624	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	937886	58579624	549359	542	65403											
PLCB4	5332	broad.mit.edu	37	chr20	9453970	9453970	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggatcagttgaaaaaagtCcagcttgaacatctagaatt	16	11	8	6	0	2	3	1	2	1	1	3	4	3	4	1	1	2	2	1	1	6	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:9453970C>T	ENST00000378501.2	+	34	3432	c.3417C>T	c.(3415-3417)gtC>gtT	p.V1139V	PLCB4_ENST00000378473.3_Silent_p.V1151V|PLCB4_ENST00000414679.2_Silent_p.V1151V|PLCB4_ENST00000334005.3_Silent_p.V1139V|PLCB4_ENST00000278655.4_Silent_p.V1139V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Silent_p.V1139V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1139					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAAAAAAGTCCAGCTTGAAC	0.348													10	87					0	0	0	0	T	9453970	C	T	9453970	2	4	345	1	0	0	0	0	0	0	0	1	12102	842	30	2		2	PLCB4	20	9453970	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08		9453970	53571550	543	65404											
MACROD2	140733	broad.mit.edu	37	chr20	14066323	14066323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgactgaaaaagtttctCtctatagaggtgacatcaca	13	13	8	7	0	3	4	1	3	2	1	4	4	3	4	0	1	0	2	0	1	4	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:14066323C>T	ENST00000217246.4	+	3	615	c.220C>T	c.(220-222)Ctc>Ttc	p.L74F	MACROD2_ENST00000310348.4_Missense_Mutation_p.L74F	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	74	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AAAAGTTTCTCTCTATAGAGG	0.313													7	54					0	0	0	0	T	14066323	C	T	14066323	3	4	345	1	0	0	0	0	1	0	0	0	9211	913	32	2	230	2	MACROD2	20	14066323	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	4612353	14066323	48959197	544	65405											
PCSK2	5126	broad.mit.edu	37	chr20	17446183	17446183	+	Missense_Mutation	SNP	C	C	T																															attccactgtgtgggaggctCcgtgcaggaccctgagtaag																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:17446183C>T	ENST00000262545.2	+	11	1730	c.1415C>T	c.(1414-1416)tCc>tTc	p.S472F	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.S453F|PCSK2_ENST00000536609.1_Missense_Mutation_p.S437F	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	472					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTGGGAGGCTCCGTGCAGGAC	0.537													8	31					0	0	0	0	T	17446183	C	T	17446183	3	4	345	1	0	0	0	0	1	0	0	0	11672	855	30	2	1457	2	PCSK2	20	17446183	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3379860	17446183	45579337	545	65406	811	2									
PCSK2	5126	broad.mit.edu	37	chr20	17446184	17446184	+	Silent	SNP	C	C	T																															ttccactgtgtgggaggctcCgtgcaggaccctgagtaagt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:17446184C>T	ENST00000262545.2	+	11	1731	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.S453S|PCSK2_ENST00000536609.1_Silent_p.S437S	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	472					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGGAGGCTCCGTGCAGGACC	0.542													8	30					0	0	0	0	T	17446184	C	T	17446184	2	4	345	1	0	0	0	0	0	0	0	1	11672	639	23	1		1	PCSK2	20	17446184	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1	17446184	45579336	546	65407	811	2									
CRNKL1	51340	broad.mit.edu	37	chr20	20033136	20033136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgacctttgacctctcgCttgagccgtgacggaggcgg	6	9	14	12	4	1	4	0	4	1	0	2	6	1	5	3	3	1	1	3	3	0	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:20033136C>T	ENST00000377340.2	-	2	365	c.334G>A	c.(334-336)Gcg>Acg	p.A112T	CRNKL1_ENST00000377327.4_Missense_Mutation_p.A100T	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	112					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGACCTCTCGCTTGAGCCGTG	0.602													8	79					0	0	0	0	T	20033136	C	T	20033136	3	4	345	1	0	0	0	0	1	0	0	0	3921	797	28	4	2268	4	CRNKL1	20	20033136	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2586952	20033136	42992384	547	65408											
MYH7B	57644	broad.mit.edu	37	chr20	33577925	33577925	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctggcgactctctatGagaattatgcgggctcctgc	6	11	12	12	2	1	1	0	1	1	1	4	3	3	1	2	3	2	2	2	3	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:33577925G>T	ENST00000262873.7	+	19	2094	c.2002G>T	c.(2002-2004)Gag>Tag	p.E668*		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	626	Actin-binding (By similarity).|Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GACTCTCTATGAGAATTATGC	0.557													12	165					1.08611e-07	1.10821e-07	1	0	T	33577925	G	T	33577925	4	4	345	1	0	0	0	0	0	1	0	0	10110	1291	45	2	2076	2	MYH7B	20	33577925	Nonsense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	13544789	33577925	29447595	548	65409											
MMP24	10893	broad.mit.edu	37	chr20	33834701	33834701	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgggcatctgcgctgcActcagcgaaggccttgcagt	7	8	12	14	3	3	0	2	0	1	0	3	1	3	0	1	2	4	4	1	2	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:33834701A>T	ENST00000246186.6	+	2	390	c.305A>T	c.(304-306)cAc>cTc	p.H102L	MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	102					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCTGCGCTGCACTCAGCGAAG	0.507													6	110					0	0	0	0	T	33834701	A	T	33834701	3	4	345	1	0	0	0	0	1	0	0	0	9731	159	6	5	61	5	MMP24	20	33834701	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	256776	33834701	29190819	549	65410											
VSTM2L	128434	broad.mit.edu	37	chr20	36560169	36560169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtatgtacggagccaccGggactggaccgacaagcagg	10	5	16	10	3	0	0	0	0	0	0	0	4	0	3	3	5	3	3	3	5	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:36560169G>A	ENST00000373461.4	+	2	501	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	VSTM2L_ENST00000373458.3_Missense_Mutation_p.R85Q|VSTM2L_ENST00000373459.4_Intron	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	85	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				CGGAGCCACCGGGACTGGACC	0.672													6	79					0	0	0	0	A	36560169	G	A	36560169	3	1	345	1	0	0	0	0	1	0	0	0	17326	1116	39	1	260	1	VSTM2L	20	36560169	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2725468	36560169	26465351	550	65411											
RALGAPB	57148	broad.mit.edu	37	chr20	37187041	37187041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctcttgccatgtcgtcCttttgacacagtttttattt	6	19	7	9	1	1	1	0	1	1	0	4	2	2	2	2	1	1	1	2	1	1	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:37187041C>T	ENST00000262879.6	+	23	3760	c.3476C>T	c.(3475-3477)cCt>cTt	p.P1159L	RALGAPB_ENST00000397040.1_Missense_Mutation_p.P1159L|RALGAPB_ENST00000397042.3_Missense_Mutation_p.P1155L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.P937L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1159	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.P1159H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCATGTCGTCCTTTTGACACA	0.378													11	260					0	0	0	0	T	37187041	C	T	37187041	3	4	345	1	0	0	0	0	1	0	0	0	13097	681	24	4	3562	4	RALGAPB	20	37187041	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	626872	37187041	25838479	551	65412											
SEMG2	6407	broad.mit.edu	37	chr20	43850781	43850781	+	Missense_Mutation	SNP	G	G	A																															aaaaaaggctatgggttcatGgactaagtaaagaacaagct																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:43850781G>A	ENST00000372769.3	+	2	598	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	170	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ATGGGTTCATGGACTAAGTAA	0.423													5	108					0	0	0	0	A	43850781	G	A	43850781	3	1	345	1	0	0	0	0	1	0	0	0	14132	1349	47	4	514	4	SEMG2	20	43850781	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	6663740	43850781	19174739	552	65413	812	2									
SEMG2	6407	broad.mit.edu	37	chr20	43850782	43850782	+	Missense_Mutation	SNP	G	G	A																															aaaaaggctatgggttcatgGactaagtaaagaacaagctt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:43850782G>A	ENST00000372769.3	+	2	599	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	170	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGGGTTCATGGACTAAGTAAA	0.423													5	108					0	0	0	0	A	43850782	G	A	43850782	3	1	345	1	0	0	0	0	1	0	0	0	14132	1174	41	2	515	2	SEMG2	20	43850782	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	43850782	19174738	553	65414	812	2									
NCOA5	57727	broad.mit.edu	37	chr20	44691089	44691089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaaagttgatacctgtGgaagacacaggcctctggct	10	11	11	9	0	2	2	1	1	1	1	2	3	2	3	2	3	1	2	2	3	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:44691089G>A	ENST00000290231.6	-	8	1754	c.1590C>T	c.(1588-1590)tcC>tcT	p.S530S		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	530	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGATACCTGTGGAAGACACAG	0.577													5	64					0	0	0	0	A	44691089	G	A	44691089	2	1	345	1	0	0	0	0	0	0	0	1	10302	1335	47	4		4	NCOA5	20	44691089	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	840307	44691089	18334431	554	65415											
ARFGEF2	10564	broad.mit.edu	37	chr20	47628527	47628527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatgctgtgaagtgcttatCagagttcgcctgcaacgccg	8	10	13	10	3	1	2	1	1	0	1	2	3	1	3	2	1	4	4	2	1	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:47628527C>T	ENST00000371917.4	+	28	3824	c.3824C>T	c.(3823-3825)tCa>tTa	p.S1275L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1275					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAGTGCTTATCAGAGTTCGCC	0.517													9	185					0	0	0	0	T	47628527	C	T	47628527	3	4	345	1	0	0	0	0	1	0	0	0	855	838	29	2	3934	2	ARFGEF2	20	47628527	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	2937438	47628527	15396993	555	65416											
SLC9A8	23315	broad.mit.edu	37	chr20	48503378	48503378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcaggaccttaagggcttCgtgtggctggacgccaagta	8	8	15	10	3	0	0	0	0	0	0	1	2	0	2	2	5	0	4	2	5	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:48503378C>T	ENST00000417961.1	+	15	1839	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	SLC9A8_ENST00000539601.1_Silent_p.F308F|SLC9A8_ENST00000361573.2_Silent_p.F527F|SLC9A8_ENST00000541138.1_Silent_p.F227F|SLC9A8_ENST00000490250.1_3'UTR	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	527						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	p.F527F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTAAGGGCTTCGTGTGGCTGG	0.627													5	97					0	0	0	0	T	48503378	C	T	48503378	2	4	345	1	0	0	0	0	0	0	0	1	14808	883	31	1		1	SLC9A8	20	48503378	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	874851	48503378	14522142	556	65417											
BCAS1	8537	broad.mit.edu	37	chr20	52561467	52561467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgctgatttgtttacttGgatttgccaactggtccgat	6	16	10	9	2	0	1	0	1	0	0	1	3	1	2	3	2	4	2	3	2	2	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:52561467G>A	ENST00000395961.3	-	12	1915	c.1749C>T	c.(1747-1749)tcC>tcT	p.S583S	BCAS1_ENST00000434986.2_Silent_p.S249S|BCAS1_ENST00000371440.3_Silent_p.S592S|BCAS1_ENST00000371435.2_Silent_p.S505S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	583			S -> P (in dbSNP:rs1055246).			cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTGTTTACTTGGATTTGCCAA	0.488													10	212					0	0	0	0	A	52561467	G	A	52561467	2	1	345	1	0	0	0	0	0	0	0	1	1354	1335	47	4		4	BCAS1	20	52561467	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	4058089	52561467	10464053	557	65418											
TAF4	6874	broad.mit.edu	37	chr20	60575778	60575778	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaatgtcatcatcgtccCttgaggaaagaagggaagat	14	10	10	7	1	2	3	2	1	0	2	4	5	3	5	1	2	0	0	1	2	4	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:60575778C>T	ENST00000252996.3	-	10	2486		c.e10-1		TAF4_ENST00000488539.1_Splice_Site	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATCATCGTCCCTTGAGGAAAG	0.498													6	77					0	0	0	0	T	60575778	C	T	60575778	5	4	345	1	0	0	0	0	0	0	1	0	15617	695	24	4	795	4	TAF4	20	60575778	Splice_Site	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	8014311	60575778	2449742	558	65419											
MYT1	4661	broad.mit.edu	37	chr20	62839357	62839357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaggaggaggaggaagagGaggaggaggaggatgaagaa	17	1	23	0	0	0	3	0	1	0	2	0	13	0	13	0	10	0	0	0	10	3	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr20:62839357G>A	ENST00000536311.1	+	7	1172	c.808G>A	c.(808-810)Gag>Aag	p.E270K	MYT1_ENST00000328439.1_Missense_Mutation_p.E270K|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	270	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ggaggaagaggaggaggagga	0.572													5	23					0	0	0	0	A	62839357	G	A	62839357	3	1	345	1	0	0	0	0	1	0	0	0	10176	1175	41	2	826	2	MYT1	20	62839357	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2263579	62839357	186163	559	65420											
SYNJ1	8867	broad.mit.edu	37	chr21	34003361	34003361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaggccaaggtcgtgaaagGatctactggagggctggtgc	10	7	17	7	1	1	2	0	1	1	1	2	4	1	4	1	6	2	1	1	6	3	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr21:34003361G>A	ENST00000382491.3	-	28	4649	c.4525C>T	c.(4525-4527)Cct>Tct	p.P1509S	SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1595S|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1556S|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000357345.3_3'UTR	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1556	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTCGTGAAAGGATCTACTGGA	0.512													7	46					0	0	0	0	A	34003361	G	A	34003361	3	1	345	1	0	0	0	0	1	0	0	0	15543	1174	41	2	59	2	SYNJ1	21	34003361	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08		34003361	14126534	560	65421											
DSCAM	1826	broad.mit.edu	37	chr21	41710112	41710112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtactccccctcgtccacttCcttttgcacatctgaaagtt	7	14	5	15	1	1	1	0	1	1	0	5	1	4	1	4	0	2	3	4	0	2	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr21:41710112C>T	ENST00000400454.1	-	8	2176	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	567	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E567K(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCGTCCACTTCCTTTTGCACA	0.493													11	152					0	0	0	0	T	41710112	C	T	41710112	3	4	345	1	0	0	0	0	1	0	0	0	4804	864	30	2	4443	2	DSCAM	21	41710112	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	7706751	41710112	6419783	561	65422											
CCT8L2	150160	broad.mit.edu	37	chr22	17071881	17071881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacttttcttggccactacGatttcatctacagtcacgag	9	13	8	11	2	4	0	2	0	2	0	4	3	4	1	1	2	2	0	1	2	2	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr22:17071881G>A	ENST00000359963.3	-	1	1819	c.1560C>T	c.(1558-1560)atC>atT	p.I520I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	520					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGCCACTACGATTTCATCTA	0.488													15	189					0	0	0	0	A	17071881	G	A	17071881	2	1	345	1	0	0	0	0	0	0	0	1	2990	1048	37	1		1	CCT8L2	22	17071881	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08		17071881	34232685	562	65423											
DGCR8	54487	broad.mit.edu	37	chr22	20074784	20074784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggcggagacagcgaccatCcgtccgatggagagacaagt	12	5	14	10	4	0	2	0	0	0	2	2	7	2	3	3	3	1	0	3	3	1	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr22:20074784C>T	ENST00000351989.3	+	3	1249	c.820C>T	c.(820-822)Ccg>Tcg	p.P274S	DGCR8_ENST00000407755.1_Missense_Mutation_p.P274S|DGCR8_ENST00000383024.2_Missense_Mutation_p.P274S	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	274	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.			P -> L (in Ref. 3).	primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CAGCGACCATCCGTCCGATGG	0.517													6	90					0	0	0	0	T	20074784	C	T	20074784	3	4	345	1	0	0	0	0	1	0	0	0	4501	855	30	2	826	2	DGCR8	22	20074784	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3002903	20074784	31229782	563	65424											
SERPIND1	3053	broad.mit.edu	37	chr22	21133696	21133696	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatcagctagagaaaggaggGgaaactgctcagtctgcaga	14	6	14	7	0	3	2	2	0	1	2	3	6	3	4	0	3	4	3	0	3	3	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr22:21133696G>A	ENST00000215727.5	+	2	379	c.96G>A	c.(94-96)ggG>ggA	p.G32G	PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.G32G|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	32					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)	AGAAAGGAGGGGAAACTGCTC	0.493													7	75					0	0	0	0	A	21133696	G	A	21133696	2	1	345	1	0	0	0	0	0	0	0	1	14197	1219	43	4		4	SERPIND1	22	21133696	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1058912	21133696	30170870	564	65425											
RFPL1	5988	broad.mit.edu	37	chr22	29837704	29837704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgtggccgccactactggGaggtggacgtgggaacaagc	8	6	16	11	2	0	0	0	0	0	0	0	3	0	3	3	5	3	0	3	5	3	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr22:29837704G>A	ENST00000354373.2	+	2	756	c.547G>A	c.(547-549)Gag>Aag	p.E183K	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	183	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCACTACTGGGAGGTGGACGT	0.562													7	142					0	0	0	0	A	29837704	G	A	29837704	3	1	345	1	0	0	0	0	1	0	0	0	13335	1175	41	2	553	2	RFPL1	22	29837704	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	8704008	29837704	21466862	565	65426											
MTMR3	8897	broad.mit.edu	37	chr22	30408534	30408534	+	Frame_Shift_Del	DEL	T	T	-																															gctaagctcttgctggacccTtattaccgaaccatagaggt																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr22:30408534delT	ENST00000333027.3	+	13	1627	c.1299delT	c.(1297-1299)ccfs	p.P433fs	MTMR3_ENST00000323630.5_Frame_Shift_Del_p.P297fs|MTMR3_ENST00000406629.1_Frame_Shift_Del_p.P433fs|MTMR3_ENST00000401950.2_Frame_Shift_Del_p.P433fs|MTMR3_ENST00000351488.3_Frame_Shift_Del_p.P433fs|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	433	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGCTGGACCCTTATTACCGAA	0.552													20	421	---	---	---	---					-	30408534	T	-	30408534	7	5	345	1	0	1	0	1	0	0	0	0	10015	1596	56	0	1341	0	MTMR3	22	30408534	Frame_Shift_Del	DEL	T	TCGA-CV-A468-01A-11D-A25Y-08	570830	30408534	20896032	566	65427											
MORC2	22880	broad.mit.edu	37	chr22	31331057	31331057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggctggctggtctaGgagttggcaaagaagggggt	7	8	21	5	0	1	1	0	0	1	1	1	2	1	2	0	9	0	5	0	9	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr22:31331057G>A	ENST00000215862.4	-	20	3081	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L	MORC2_ENST00000397641.2_Missense_Mutation_p.P635L	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	635							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGCTGGTCTAGGAGTTGGCAA	0.602													6	59					0	0	0	0	A	31331057	G	A	31331057	3	1	345	1	0	0	0	0	1	0	0	0	9772	1000	35	4	1226	4	MORC2	22	31331057	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	922523	31331057	19973509	567	65428											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31864189	31864189	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgcaccagggaaggccgGtctgtatccaactctttctt	7	11	10	13	2	3	0	0	0	3	0	4	1	4	1	3	3	2	2	3	3	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr22:31864189G>A	ENST00000397525.1	-	4	493	c.270C>T	c.(268-270)gaC>gaT	p.D90D	EIF4ENIF1_ENST00000397523.1_Silent_p.D90D|EIF4ENIF1_ENST00000344710.5_Silent_p.D90D|EIF4ENIF1_ENST00000330125.5_Silent_p.D90D	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	90						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGGAAGGCCGGTCTGTATCCA	0.532													7	112					0	0	0	0	A	31864189	G	A	31864189	2	1	345	1	0	0	0	0	0	0	0	1	5073	1252	44	4		4	EIF4ENIF1	22	31864189	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	533132	31864189	19440377	568	65429											
SLC5A1	6523	broad.mit.edu	37	chr22	32477867	32477867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggcagacatcttctcGggggccatattcatcaatct	9	12	8	12	1	5	1	2	0	3	1	7	1	6	1	2	3	0	1	2	3	2	4	rs145808292	by1000genomes	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr22:32477867G>A	ENST00000266088.4	+	6	742	c.492G>A	c.(490-492)tcG>tcA	p.S164S	SLC5A1_ENST00000543737.1_Silent_p.S37S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	164					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ACATCTTCTCGGGGGCCATAT	0.498													9	197					0	0	0	0	A	32477867	G	A	32477867	2	1	345	1	0	0	0	0	0	0	0	1	14749	1103	39	1		1	SLC5A1	22	32477867	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	613678	32477867	18826699	569	65430											
FBXO7	25793	broad.mit.edu	37	chr22	32894343	32894343	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccaatcagttcactcatTcctggtcctggggagacgcc	8	9	10	14	1	3	1	3	0	0	1	5	3	5	1	4	3	0	1	4	3	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr22:32894343T>A	ENST00000266087.7	+	9	1722	c.1395T>A	c.(1393-1395)atT>atA	p.I465I	FBXO7_ENST00000397426.1_Silent_p.I351I|FBXO7_ENST00000382058.3_Silent_p.I386I	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	465					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTTCACTCATTCCTGGTCCTG	0.557													9	134					0	0	0	0	A	32894343	T	A	32894343	2	1	345	1	0	0	0	0	0	0	0	1	5805	1771	62	5		5	FBXO7	22	32894343	Silent	SNP	T	TCGA-CV-A468-01A-11D-A25Y-08	416476	32894343	18410223	570	65431											
EIF3L	51386	broad.mit.edu	37	chr22	38245379	38245379	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccggcaggcccgagtgggGctgaacttccggcctcagga	6	6	15	14	3	1	1	1	1	0	0	3	3	3	2	4	6	1	2	4	6	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr22:38245379G>A	ENST00000412331.2	+	0	505					NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L							eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCGAGTGGGGCTGAACTTCC	0.632													9	152					0	0	0	0	A	38245379	G	A	38245379	1	1	345	1	0	0	0	0	0	0	0	0	5060	1218	42	4		4	EIF3L	22	38245379	Translation_Start_Site	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	5351036	38245379	13059187	571	65432											
EIF3L	51386	broad.mit.edu	37	chr22	38270416	38270416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggggagtatgggcggcactCcctctacaaaatgcttggtt	8	11	13	9	1	1	0	0	0	1	0	2	1	2	1	1	5	2	4	1	5	4	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr22:38270416C>T	ENST00000412331.2	+	9	1373	c.791C>T	c.(790-792)tCc>tTc	p.S264F	EIF3L_ENST00000381683.6_Missense_Mutation_p.S216F|EIF3L_ENST00000406934.1_Missense_Mutation_p.S166F	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	264						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGCGGCACTCCCTCTACAAA	0.552													12	175					0	0	0	0	T	38270416	C	T	38270416	3	4	345	1	0	0	0	0	1	0	0	0	5060	855	30	2	825	2	EIF3L	22	38270416	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	25037	38270416	13034150	572	65433											
EP300	2033	broad.mit.edu	37	chr22	41568555	41568555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagtgcaaaggaattgcCttatttcgagggtgatttct	12	13	10	6	1	1	1	0	1	1	0	2	3	1	2	1	2	3	1	1	2	5	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr22:41568555C>T	ENST00000263253.7	+	28	5724	c.4505C>T	c.(4504-4506)cCt>cTt	p.P1502L	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1502					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AAGGAATTGCCTTATTTCGAG	0.368			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				10	58					0	0	0	0	T	41568555	C	T	41568555	3	4	345	1	0	0	0	0	1	0	0	0	5186	681	24	4	4615	4	EP300	22	41568555	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	3298139	41568555	9736011	573	65434											
ARFGAP3	26286	broad.mit.edu	37	chr22	43206940	43206940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctccttaactccactggctCgtcaaagtaactgtaggagc	10	10	9	12	1	1	0	1	0	0	0	4	1	3	1	2	2	3	4	2	2	4	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr22:43206940C>T	ENST00000263245.5	-	12	1294	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ARFGAP3_ENST00000429508.2_Missense_Mutation_p.E287K|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.E315K	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	359	Ser-rich.				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TCCACTGGCTCGTCAAAGTAA	0.468													10	91					0	0	0	0	T	43206940	C	T	43206940	3	4	345	1	0	0	0	0	1	0	0	0	853	893	31	1	495	1	ARFGAP3	22	43206940	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1638385	43206940	8097626	574	65435											
MPPED1	758	broad.mit.edu	37	chr22	43821159	43821159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagctccaaccccacccaGgccttcaccttctacaacat	11	8	3	19	0	2	0	1	0	1	0	3	0	3	0	6	1	5	1	6	1	4	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr22:43821159G>A	ENST00000417669.1	+	2	612	c.168G>A	c.(166-168)caG>caA	p.Q56Q	MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000538182.1_Silent_p.Q89Q|MPPED1_ENST00000443721.1_Silent_p.Q56Q|MPPED1_ENST00000542779.1_Silent_p.Q56Q|MPPED1_ENST00000414469.2_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	56							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				ACCCCACCCAGGCCTTCACCT	0.657													5	60					0	0	0	0	A	43821159	G	A	43821159	2	1	345	1	0	0	0	0	0	0	0	1	9811	991	35	4		4	MPPED1	22	43821159	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	614219	43821159	7483407	575	65436											
HDAC10	83933	broad.mit.edu	37	chr22	50686181	50686181	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtgcagtgagggcctcCtcccgggccagggactcgtg	6	6	15	14	2	0	1	0	1	0	0	3	2	2	2	5	3	1	1	5	3	1	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chr22:50686181C>T	ENST00000216271.5	-	14	1714	c.1362G>A	c.(1360-1362)gaG>gaA	p.E454E	HDAC10_ENST00000448072.1_Silent_p.E404E|HDAC10_ENST00000349505.4_Silent_p.E434E|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	454					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGAGGGCCTCCTCCCGGGCCA	0.622													10	80					0	0	0	0	T	50686181	C	T	50686181	2	4	345	1	0	0	0	0	0	0	0	1	7055	680	24	4		4	HDAC10	22	50686181	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	6865022	50686181	618385	576	65437											
CLCN4	1183	broad.mit.edu	37	chrX	10188788	10188788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctgccggccaacagccCacatcccctgaagctgcggc	8	4	11	18	3	0	1	0	1	0	0	1	2	1	1	5	2	6	2	5	2	2	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:10188788C>T	ENST00000380833.4	+	12	2454	c.2063C>T	c.(2062-2064)cCa>cTa	p.P688L	CLCN4_ENST00000380829.1_Missense_Mutation_p.P657L|CLCN4_ENST00000421085.2_Missense_Mutation_p.P594L	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	688						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCAACAGCCCACATCCCCTG	0.582													12	114					0	0	0	0	T	10188788	C	T	10188788	3	4	345	1	0	0	0	0	1	0	0	0	3495	594	21	4	2101	4	CLCN4	23	10188788	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08		10188788	145081772	577	65438											
FRMPD4	9758	broad.mit.edu	37	chrX	12728536	12728536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcctatcacgcttctgatgGaatcctcagatgccatgaac	11	10	8	12	1	3	3	2	2	1	1	4	4	4	4	3	1	3	1	3	1	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:12728536G>A	ENST00000380682.1	+	14	1995	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	497	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GCTTCTGATGGAATCCTCAGA	0.443													9	151					0	0	0	0	A	12728536	G	A	12728536	3	1	345	1	0	0	0	0	1	0	0	0	6107	1175	41	2	1543	2	FRMPD4	23	12728536	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	2539748	12728536	142542024	578	65439											
BEND2	139105	broad.mit.edu	37	chrX	18213472	18213472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatatggggcactcgtatttCccgataaagctgggtaatac	11	11	11	8	2	0	0	0	0	0	0	2	2	1	0	1	3	2	4	1	3	6	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:18213472C>T	ENST00000380033.4	-	7	1256	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	375										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACTCGTATTTCCCGATAAAGC	0.403													8	72					0	0	0	0	T	18213472	C	T	18213472	3	4	345	1	0	0	0	0	1	0	0	0	1402	855	30	2	1333	2	BEND2	23	18213472	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5484936	18213472	137057088	579	65440											
POLA1	5422	broad.mit.edu	37	chrX	24757589	24757589	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcgttgtaaaagctaccAtctgtctgaacttgttcagc	10	14	8	9	1	3	1	1	1	2	0	4	2	3	1	1	0	4	4	1	0	4	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:24757589A>G	ENST00000379068.3	+	20	2181	c.2138A>G	c.(2137-2139)cAt>cGt	p.H713R	POLA1_ENST00000379059.3_Missense_Mutation_p.H707R			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	707					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	AAAAGCTACCATCTGTCTGAA	0.383													9	57					0	0	0	0	G	24757589	A	G	24757589	3	3	345	1	0	0	0	0	1	0	0	0	12259	217	8	5	2198	5	POLA1	23	24757589	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	6544117	24757589	130512971	580	65441											
FAM47A	158724	broad.mit.edu	37	chrX	34148911	34148911	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtccgacgagtcttgggAggctgcgagtggagactgga	8	7	18	8	4	1	1	0	0	1	1	2	8	2	3	1	4	1	1	1	4	0	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:34148911A>T	ENST00000346193.3	-	1	1536	c.1485T>A	c.(1483-1485)ccT>ccA	p.P495P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	495			Missing.							NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAGTCTTGGGAGGCTGCGAGT	0.652													5	70					0	0	0	0	T	34148911	A	T	34148911	2	4	345	1	0	0	0	0	0	0	0	1	5616	291	11	5		5	FAM47A	23	34148911	Silent	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	9391322	34148911	121121649	581	65442											
CXorf22	170063	broad.mit.edu	37	chrX	35974158	35974158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtttgatccaggaccagttCttaattttaaaccttgtttc	10	17	6	8	0	1	1	0	1	1	0	3	2	2	2	3	1	1	3	3	1	3	7			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:35974158C>T	ENST00000297866.5	+	8	1321	c.1255C>T	c.(1255-1257)Ctt>Ttt	p.L419F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	419										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGGACCAGTTCTTAATTTTAA	0.368													6	72					0	0	0	0	T	35974158	C	T	35974158	3	4	345	1	0	0	0	0	1	0	0	0	4134	913	32	2	1285	2	CXorf22	23	35974158	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1825247	35974158	119296402	582	65443											
USP9X	8239	broad.mit.edu	37	chrX	41027468	41027468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaacaattctccctatgtCgaggtttgtgaataactaat	14	13	7	7	1	1	2	0	1	1	1	3	3	1	2	1	1	2	1	1	1	7	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:41027468C>T	ENST00000324545.7	+	18	3266	c.2633C>T	c.(2632-2634)tCg>tTg	p.S878L	USP9X_ENST00000378308.2_Missense_Mutation_p.S878L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	878					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTCCCTATGTCGAGGTTTGTG	0.328													4	33					0	0	0	0	T	41027468	C	T	41027468	3	4	345	1	0	0	0	0	1	0	0	0	17186	893	31	1	2699	1	USP9X	23	41027468	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5053310	41027468	114243092	583	65444											
SLC38A5	92745	broad.mit.edu	37	chrX	48320450	48320450	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgttgagtccttggctgggGagtcccacgagagcttcact	6	11	13	11	1	1	2	1	1	0	1	3	4	3	3	2	3	1	3	2	3	0	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:48320450G>A	ENST00000376876.3	-	10	1557	c.714C>T	c.(712-714)ctC>ctT	p.L238L	SLC38A5_ENST00000317669.5_Silent_p.L238L|SLC38A5_ENST00000376875.1_Silent_p.L187L			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	238					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CTTGGCTGGGGAGTCCCACGA	0.542													4	26					0	0	0	0	A	48320450	G	A	48320450	2	1	345	1	0	0	0	0	0	0	0	1	14695	1161	41	2		2	SLC38A5	23	48320450	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	7292982	48320450	106950110	584	65445											
HUWE1	10075	broad.mit.edu	37	chrX	53561067	53561067	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagggcagcaaagccttgcAggggtaccttggaagtaccc	10	6	14	11	1	0	0	0	0	0	0	0	2	0	1	3	4	5	5	3	4	4	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:53561067A>C	ENST00000342160.3	-	82	13380	c.12923T>G	c.(12922-12924)cTg>cGg	p.L4308R	HUWE1_ENST00000262854.6_Missense_Mutation_p.L4308R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4308	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAAGCCTTGCAGGGGTACCTT	0.522													6	44					0	0	0	0	C	53561067	A	C	53561067	3	2	345	1	0	0	0	0	1	0	0	0	7514	188	7	5	209	5	HUWE1	23	53561067	Missense_Mutation	SNP	A	TCGA-CV-A468-01A-11D-A25Y-08	5240617	53561067	101709493	585	65446											
ATRX	546	broad.mit.edu	37	chrX	76938082	76938082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caactgtgccttctgctgaaGagaaagtctctctctcttgt	8	14	8	11	0	4	2	0	1	4	1	6	3	4	2	1	0	3	1	1	0	3	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:76938082G>A	ENST00000373344.5	-	9	2880	c.2666C>T	c.(2665-2667)tCt>tTt	p.S889F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S851F	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	889					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTGCTGAAGAGAAAGTCTC	0.413			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						27	302					0	0	0	0	A	76938082	G	A	76938082	3	1	345	1	0	0	0	0	1	0	0	0	1212	942	33	2	4920	2	ATRX	23	76938082	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	23377015	76938082	78332478	586	65447											
ATP7A	538	broad.mit.edu	37	chrX	77286940	77286940	+	Missense_Mutation	SNP	G	G	A																															agactggaaccattactcacGgaaccccagtggtgaatcaa																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:77286940G>A	ENST00000341514.6	+	16	3309	c.3154G>A	c.(3154-3156)Gga>Aga	p.G1052R	ATP7A_ENST00000350425.4_Missense_Mutation_p.G55R|ATP7A_ENST00000343533.5_Missense_Mutation_p.G974R	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1052					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CATTACTCACGGAACCCCAGT	0.378													6	110					0	0	0	0	A	77286940	G	A	77286940	3	1	345	1	0	0	0	0	1	0	0	0	1194	1117	39	1	3212	1	ATP7A	23	77286940	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	348858	77286940	77983620	587	65448	813	2									
ATP7A	538	broad.mit.edu	37	chrX	77286941	77286941	+	Missense_Mutation	SNP	G	G	A																															gactggaaccattactcacgGaaccccagtggtgaatcaag																										TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:77286941G>A	ENST00000341514.6	+	16	3310	c.3155G>A	c.(3154-3156)gGa>gAa	p.G1052E	ATP7A_ENST00000350425.4_Missense_Mutation_p.G55E|ATP7A_ENST00000343533.5_Missense_Mutation_p.G974E	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1052					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.G1052V(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						ATTACTCACGGAACCCCAGTG	0.378													6	110					0	0	0	0	A	77286941	G	A	77286941	3	1	345	1	0	0	0	0	1	0	0	0	1194	1174	41	2	3213	2	ATP7A	23	77286941	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	1	77286941	77983619	588	65449	813	2									
LPAR4	2846	broad.mit.edu	37	chrX	78010772	78010772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacctgtattagtgtggatCgtttcctggccattgtctat	6	17	9	9	1	2	0	1	0	1	0	4	1	3	1	3	2	0	2	3	2	3	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:78010772C>T	ENST00000435339.2	+	2	811	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	LPAR4_ENST00000373301.2_Missense_Mutation_p.R136C	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	136						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TAGTGTGGATCGTTTCCTGGC	0.483													8	95					0	0	0	0	T	78010772	C	T	78010772	3	4	345	1	0	0	0	0	1	0	0	0	8971	884	31	1	408	1	LPAR4	23	78010772	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	723831	78010772	77259788	589	65450											
PCDH11X	27328	broad.mit.edu	37	chrX	91133258	91133258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgacaacaaaccagttttCattgtccctccttccaactg	12	12	4	13	0	1	1	1	1	0	0	4	1	4	1	4	0	3	1	4	0	4	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:91133258C>T	ENST00000373094.1	+	2	2864	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	PCDH11X_ENST00000361655.2_Silent_p.F673F|PCDH11X_ENST00000361724.1_Silent_p.F673F|PCDH11X_ENST00000373097.1_Silent_p.F673F|PCDH11X_ENST00000406881.1_Silent_p.F673F|PCDH11X_ENST00000395337.2_Silent_p.F673F|PCDH11X_ENST00000504220.1_Silent_p.F673F|PCDH11X_ENST00000298274.8_Silent_p.F673F|PCDH11X_ENST00000373088.1_Silent_p.F673F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	673	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AACCAGTTTTCATTGTCCCTC	0.423													10	124					0	0	0	0	T	91133258	C	T	91133258	2	4	345	1	0	0	0	0	0	0	0	1	11579	825	29	2		2	PCDH11X	23	91133258	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	13122486	91133258	64137302	590	65451											
TAF7L	54457	broad.mit.edu	37	chrX	100533088	100533088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtctctttacttcattttCcacgtctggagattcaatgt	8	17	6	10	1	4	1	2	0	2	1	6	2	5	1	1	1	1	0	1	1	2	6			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:100533088C>T	ENST00000372907.3	-	8	795	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	TAF7L_ENST00000356784.1_Missense_Mutation_p.E176K|TAF7L_ENST00000372905.2_Missense_Mutation_p.E176K|TAF7L_ENST00000324762.6_Missense_Mutation_p.E176K	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	262					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACTTCATTTTCCACGTCTGGA	0.448													6	40					0	0	0	0	T	100533088	C	T	100533088	3	4	345	1	0	0	0	0	1	0	0	0	15624	864	30	2	628	2	TAF7L	23	100533088	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	9399830	100533088	54737472	591	65452											
TCEAL6	158931	broad.mit.edu	37	chrX	101395946	101395946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagagtccttgggggaatCgtccgtccccctgtctgttt	4	13	12	12	2	1	1	0	1	1	1	5	3	4	2	4	2	0	1	4	2	1	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:101395946C>T	ENST00000372774.3	-	3	607	c.358G>A	c.(358-360)Gat>Aat	p.D120N	TCEAL6_ENST00000372773.1_Missense_Mutation_p.D120N	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.D120N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TTGGGGGAATCGTCCGTCCCC	0.577													11	100					0	0	0	0	T	101395946	C	T	101395946	3	4	345	1	0	0	0	0	1	0	0	0	15769	884	31	1	197	1	TCEAL6	23	101395946	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	862858	101395946	53874614	592	65453											
GPRASP2	114928	broad.mit.edu	37	chrX	101970658	101970658	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtctggatctgaggatgaGgccagcaacccattctcctt	8	11	11	11	0	3	2	0	2	3	0	4	4	3	4	3	4	2	1	3	4	1	2	rs146614457	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:101970658G>A	ENST00000543253.1	+	5	1780	c.861G>A	c.(859-861)gaG>gaA	p.E287E	GPRASP2_ENST00000535209.1_Silent_p.E287E|GPRASP2_ENST00000332262.5_Silent_p.E287E	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CTGAGGATGAGGCCAGCAACC	0.517													14	134					0	0	0	0	A	101970658	G	A	101970658	2	1	345	1	0	0	0	0	0	0	0	1	6773	991	35	4		4	GPRASP2	23	101970658	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	574712	101970658	53299902	593	65454											
IRS4	8471	broad.mit.edu	37	chrX	107977075	107977075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctccccaggaactttcCaggtaacattggcacatact	10	9	7	15	0	0	0	0	0	0	0	2	1	2	1	5	3	3	2	5	3	3	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:107977075C>T	ENST00000372129.2	-	1	2576	c.2500G>A	c.(2500-2502)Gga>Aga	p.G834R		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	834						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.G834R(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGGAACTTTCCAGGTAACATT	0.488													19	206					0	0	0	0	T	107977075	C	T	107977075	3	4	345	1	0	0	0	0	1	0	0	0	7895	603	21	4	1277	4	IRS4	23	107977075	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	6006417	107977075	47293485	594	65455											
RGAG1	57529	broad.mit.edu	37	chrX	109696197	109696197	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagagaggccctcactgctCacaagagcttcatcctctgg	9	8	11	13	0	4	2	3	0	1	2	5	4	5	3	2	3	2	2	2	3	1	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:109696197C>T	ENST00000465301.2	+	3	2598	c.2352C>T	c.(2350-2352)ctC>ctT	p.L784L	RGAG1_ENST00000540313.1_Silent_p.L784L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	784										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCTCACTGCTCACAAGAGCTT	0.532													6	79					0	0	0	0	T	109696197	C	T	109696197	2	4	345	1	0	0	0	0	0	0	0	1	13356	813	29	2		2	RGAG1	23	109696197	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1719122	109696197	45574363	595	65456											
ZCCHC12	170261	broad.mit.edu	37	chrX	117960077	117960077	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaccctccacttccatcctgGggtgcccctcccctcagaga	6	8	8	19	0	1	1	1	0	0	1	5	3	5	1	8	2	1	0	8	2	0	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:117960077G>A	ENST00000310164.2	+	4	1377	c.870G>A	c.(868-870)tgG>tgA	p.W290*		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TTCCATCCTGGGGTGCCCCTC	0.562													8	66					0	0	0	0	A	117960077	G	A	117960077	4	1	345	1	0	0	0	0	0	1	0	0	17676	1241	43	4	872	4	ZCCHC12	23	117960077	Nonsense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	8263880	117960077	37310483	596	65457											
KIAA1210	57481	broad.mit.edu	37	chrX	118220904	118220904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggagcaatggtgaacttcCcaggtttggtagcaggggct	9	9	15	8	0	0	1	0	1	0	0	1	2	1	2	1	6	3	5	1	6	3	3			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:118220904C>T	ENST00000402510.2	-	11	4288	c.4289G>A	c.(4288-4290)gGg>gAg	p.G1430E		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1430										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGTGAACTTCCCAGGTTTGGT	0.438													8	99					0	0	0	0	T	118220904	C	T	118220904	3	4	345	1	0	0	0	0	1	0	0	0	8265	623	22	4	856	4	KIAA1210	23	118220904	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	260827	118220904	37049656	597	65458											
KIAA1210	57481	broad.mit.edu	37	chrX	118220998	118220998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaagcttcatctcttcCtaggaaccaattgtcagaat	13	12	6	10	0	3	1	2	0	1	1	5	2	4	2	2	1	3	2	2	1	6	4			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:118220998C>T	ENST00000402510.2	-	11	4194	c.4195G>A	c.(4195-4197)Gga>Aga	p.G1399R		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1399								p.G1223*(1)|p.G1399*(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCATCTCTTCCTAGGAACCAA	0.443													11	137					0	0	0	0	T	118220998	C	T	118220998	3	4	345	1	0	0	0	0	1	0	0	0	8265	690	24	4	950	4	KIAA1210	23	118220998	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	94	118220998	37049562	598	65459											
CT47B1	643311	broad.mit.edu	37	chrX	120008750	120008750	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgccgctagcccccttacCctcgggggccacggcctcct	3	7	11	20	3	0	0	0	0	0	0	2	0	1	0	7	3	3	2	7	3	2	2			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:120008750C>T	ENST00000371311.3	-	1	1029	c.775_splice	c.e1+1	p.E259_splice		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	259										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCCCCCTTACCCTCGGGGGCC	0.687													5	86					0	0	0	0	T	120008750	C	T	120008750	5	4	345	1	0	0	0	0	0	0	1	0	4021	637	22	4	132	4	CT47B1	23	120008750	Splice_Site	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	1787752	120008750	35261810	599	65460											
BCORL1	63035	broad.mit.edu	37	chrX	129156917	129156917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttccgtgactttattcCtgtggttctgagcacccgca	6	14	9	12	2	1	2	0	2	1	0	3	2	3	2	3	1	1	4	3	1	1	5			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:129156917C>T	ENST00000540052.1	+	5	3697	c.3653C>T	c.(3652-3654)cCt>cTt	p.P1218L	BCORL1_ENST00000359304.2_Missense_Mutation_p.P1218L|BCORL1_ENST00000218147.7_Missense_Mutation_p.P1218L|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1218L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1218					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GACTTTATTCCTGTGGTTCTG	0.473													7	76					0	0	0	0	T	129156917	C	T	129156917	3	4	345	1	0	0	0	0	1	0	0	0	1391	681	24	4	3671	4	BCORL1	23	129156917	Missense_Mutation	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	9148167	129156917	26113643	600	65461											
DDX26B	203522	broad.mit.edu	37	chrX	134713948	134713948	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaaactgcagtctctcCgtagatgaccaaaaagaccc	15	6	7	13	1	1	3	0	1	1	2	3	3	2	3	4	0	2	2	4	0	5	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:134713948C>T	ENST00000370752.4	+	15	2578	c.2244C>T	c.(2242-2244)tcC>tcT	p.S748S	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	748										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTCTCTCCGTAGATGACC	0.428													8	53					0	0	0	0	T	134713948	C	T	134713948	2	4	345	1	0	0	0	0	0	0	0	1	4385	639	23	1		1	DDX26B	23	134713948	Silent	SNP	C	TCGA-CV-A468-01A-11D-A25Y-08	5557031	134713948	20556612	601	65462											
GABRQ	55879	broad.mit.edu	37	chrX	151821029	151821029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgattaacgtggaagacgGagtcagctctctccccatca	10	9	9	13	2	3	2	2	1	1	1	5	4	4	4	3	2	2	1	3	2	2	1			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:151821029G>A	ENST00000370306.2	+	9	1204	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	395						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGAAGACGGAGTCAGCTCT	0.597													6	70					0	0	0	0	A	151821029	G	A	151821029	3	1	345	1	0	0	0	0	1	0	0	0	6223	1174	41	2	1218	2	GABRQ	23	151821029	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	17107081	151821029	3449531	602	65463											
ATP2B3	492	broad.mit.edu	37	chrX	152813321	152813321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggatggtgcagtggccatGgagatgcagcccctgaagag	10	6	16	9	0	0	3	0	1	0	2	0	5	0	4	3	4	3	2	3	4	1	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:152813321G>A	ENST00000370186.1	+	7	1271	c.945G>A	c.(943-945)atG>atA	p.M315I	ATP2B3_ENST00000393842.1_Missense_Mutation_p.M315I|ATP2B3_ENST00000263519.4_Missense_Mutation_p.M329I|ATP2B3_ENST00000359149.3_Missense_Mutation_p.M329I|ATP2B3_ENST00000370181.2_Missense_Mutation_p.M315I|ATP2B3_ENST00000349466.2_Missense_Mutation_p.M329I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	329					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGGCCATGGAGATGCAGC	0.582													5	44					0	0	0	0	A	152813321	G	A	152813321	3	1	345	1	0	0	0	0	1	0	0	0	1145	1348	47	4	1013	4	ATP2B3	23	152813321	Missense_Mutation	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	992292	152813321	2457239	603	65464											
PLXNA3	55558	broad.mit.edu	37	chrX	153694154	153694154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactggatgcacctgagccaGaagggcacccggtgcagcca	11	4	13	13	1	0	2	0	1	0	1	0	3	0	3	4	3	5	3	4	3	2	0			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	BE08CB07-E3B2-474C-88A9-675AB5B4A1F6	B6BD1712-25DD-4AEB-A340-41D8F63F4FC7	g.chrX:153694154G>A	ENST00000369682.3	+	13	2671	c.2496G>A	c.(2494-2496)caG>caA	p.Q832Q		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	832					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTGAGCCAGAAGGGCACCC	0.672													4	31					0	0	0	0	A	153694154	G	A	153694154	2	1	345	1	0	0	0	0	0	0	0	1	12193	933	33	2		2	PLXNA3	23	153694154	Silent	SNP	G	TCGA-CV-A468-01A-11D-A25Y-08	880833	153694154	1576406	604	65465											
RNF207	388591	broad.mit.edu	37	chr1	6266754	6266754	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgcctgcgtggccgcgcGaccgacggccgcctcacctg	3	5	15	18	7	1	0	1	0	0	0	1	2	1	0	6	3	2	1	6	3	0	0			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:6266754G>A	ENST00000377939.4	+	2	286	c.159G>A	c.(157-159)gcG>gcA	p.A53A	RNF207_ENST00000377948.2_5'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	53						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GTGGCCGCGCGACCGACGGCC	0.682													11	34					0	0	0	0	A	6266754	G	A	6266754	2	1	346	1	0	0	0	0	0	0	0	1	13559	1045	37	1		1	RNF207	1	6266754	Silent	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08		6266754	242983867	1	65466											
ARHGEF19	128272	broad.mit.edu	37	chr1	16532081	16532081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctggaagggcaggataagGaaggaggtaaggggcagacg	13	4	19	5	1	1	1	0	0	1	1	1	5	1	5	0	8	0	3	0	8	4	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:16532081G>A	ENST00000270747.3	-	9	1669	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	511	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGATAAGGAAGGAGGTAA	0.617													22	18					0	0	0	0	A	16532081	G	A	16532081	2	1	346	1	0	0	0	0	0	0	0	1	904	1165	41	2		2	ARHGEF19	1	16532081	Silent	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	10265327	16532081	232718540	2	65467											
PTPRU	10076	broad.mit.edu	37	chr1	29585137	29585137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctacttcctgtacagccGggacgggcacagcccgggca	8	5	13	15	3	0	0	0	0	0	0	1	1	1	1	3	3	5	4	3	3	2	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:29585137G>A	ENST00000356870.3	+	3	436	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	PTPRU_ENST00000345512.3_Missense_Mutation_p.R109Q|PTPRU_ENST00000323874.8_Missense_Mutation_p.R109Q|PTPRU_ENST00000373779.3_Missense_Mutation_p.R109Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.R109Q|PTPRU_ENST00000428026.2_Missense_Mutation_p.R109Q	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	109	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.R109L(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGTACAGCCGGGACGGGCAC	0.627													148	96					0	0	0	0	A	29585137	G	A	29585137	3	1	346	1	0	0	0	0	1	0	0	0	12895	1116	39	1	336	1	PTPRU	1	29585137	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	13053056	29585137	219665484	3	65468											
SMG5	23381	broad.mit.edu	37	chr1	156235606	156235606	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctacatccccattgacGcaaggcctgtggctggccga	7	10	11	13	2	1	1	0	1	1	0	2	2	2	1	4	3	1	2	4	3	2	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:156235606G>A	ENST00000361813.5	-	12	1965	c.1821C>T	c.(1819-1821)tgC>tgT	p.C607C	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	607					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCCCATTGACGCAAGGCCTGT	0.572													54	126					0	0	0	0	A	156235606	G	A	156235606	2	1	346	1	0	0	0	0	0	0	0	1	14884	1079	38	1		1	SMG5	1	156235606	Silent	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	126650469	156235606	93015015	4	65469											
BCAN	63827	broad.mit.edu	37	chr1	156622194	156622194	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctgtgggcatggcccagCgagctcagcagcccgggccc	5	5	15	16	2	2	0	1	0	1	0	2	1	2	0	3	3	4	4	3	3	0	0			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:156622194C>T	ENST00000329117.4	+	8	1788	c.1452C>T	c.(1450-1452)agC>agT	p.S484S	BCAN_ENST00000361588.5_Silent_p.S484S|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	484					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATGGCCCAGCGAGCTCAGCA	0.602													7	9					0	0	0	0	T	156622194	C	T	156622194	2	4	346	1	0	0	0	0	0	0	0	1	1349	767	27	1		1	BCAN	1	156622194	Silent	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	386588	156622194	92628427	5	65470											
NES	10763	broad.mit.edu	37	chr1	156640278	156640278	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcagcctgaggctgaggCccaggggcatcttccaggat	7	8	13	13	0	2	2	1	2	1	0	3	3	3	3	4	5	1	2	4	5	0	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:156640278C>T	ENST00000368223.3	-	4	3834	c.3702G>A	c.(3700-3702)ggG>ggA	p.G1234G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1234	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGGCTGAGGCCCAGGGGCAT	0.637													52	121					0	0	0	0	T	156640278	C	T	156640278	2	4	346	1	0	0	0	0	0	0	0	1	10407	726	26	4		4	NES	1	156640278	Silent	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	18084	156640278	92610343	6	65471											
OR6K3	391114	broad.mit.edu	37	chr1	158687883	158687883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagataaattcagtcactGttgattggtttccgctctcc	9	15	8	9	1	3	3	2	2	1	1	5	3	4	3	2	1	0	3	2	1	3	5			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:158687883G>A	ENST00000368146.1	-	1	70	c.71C>T	c.(70-72)aCa>aTa	p.T24I	OR6K3_ENST00000368145.1_Missense_Mutation_p.T8I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TTCAGTCACTGTTGATTGGTT	0.378													20	58					0	0	0	0	A	158687883	G	A	158687883	3	1	346	1	0	0	0	0	1	0	0	0	11274	1377	48	4	926	4	OR6K3	1	158687883	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	2047605	158687883	90562738	7	65472											
PTPN14	5784	broad.mit.edu	37	chr1	214557023	214557023	+	Frame_Shift_Del	DEL	G	G	-																															tccatcttctcccggagcatGgggatctggggcaccgattc																										TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:214557023delG	ENST00000366956.5	-	13	2369	c.2175delC	c.(2173-2175)ccfs	p.P725fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	725					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCCGGAGCATGGGGATCTGGG	0.612													19	51	---	---	---	---					-	214557023	G	-	214557023	7	5	346	1	0	1	0	1	0	0	0	0	12863	1335	47	0	1416	0	PTPN14	1	214557023	Frame_Shift_Del	DEL	G	TCGA-CV-A6JD-01A-11D-A31L-08	55869140	214557023	34693598	8	65473											
C2orf73	129852	broad.mit.edu	37	chr2	54570915	54570915	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctaccaccttacgactCtaagagcacccagaggagtg	11	8	8	14	1	1	2	0	0	1	2	2	4	2	3	4	1	3	1	4	1	3	4			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:54570915C>A	ENST00000398634.2	+	3	335	c.293C>A	c.(292-294)tCt>tAt	p.S98Y	C2orf73_ENST00000405749.1_Missense_Mutation_p.S40Y|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	98										breast(2)	2						CCTTACGACTCTAAGAGCACC	0.438													10	20					2.17888e-05	2.30106e-05	1	0	A	54570915	C	A	54570915	3	1	346	1	0	0	0	0	1	0	0	0	2212	913	32	2	303	2	C2orf73	2	54570915	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08		54570915	188628458	9	65474											
THNSL2	55258	broad.mit.edu	37	chr2	88474336	88474336	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaagagggagaagcaCgtcactgtggttgtaggtgt	10	9	17	5	1	1	3	1	0	0	3	1	5	1	3	0	4	1	3	0	4	3	2	rs149479181	by1000genomes	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:88474336C>T	ENST00000324166.5	+	2	2093	c.402C>T	c.(400-402)caC>caT	p.H134H	THNSL2_ENST00000343544.4_Silent_p.H134H|THNSL2_ENST00000358591.2_Silent_p.H134H|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000402102.1_Silent_p.H134H|THNSL2_ENST00000449349.1_Silent_p.H102H|THNSL2_ENST00000377254.3_Silent_p.H134H	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	134					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GGGAGAAGCACGTCACTGTGG	0.512													14	57					0	0	0	0	T	88474336	C	T	88474336	2	4	346	1	0	0	0	0	0	0	0	1	15957	535	19	1		1	THNSL2	2	88474336	Silent	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	33903421	88474336	154725037	10	65475											
DUSP2	1844	broad.mit.edu	37	chr2	96811088	96811088	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctcgcgcgccgcctccagCcccatggccaccggtgcctc	4	5	11	21	5	0	0	0	0	0	0	3	0	1	0	8	2	3	1	8	2	0	0			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:96811088C>A	ENST00000288943.4	-	1	91	c.6G>T	c.(4-6)ggG>ggT	p.G2G		NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	2					endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				CCGCCTCCAGCCCCATGGCCA	0.746													4	15					0.014758	0.0151605	1	0	A	96811088	C	A	96811088	2	1	346	1	0	0	0	0	0	0	0	1	4855	726	26	4		4	DUSP2	2	96811088	Silent	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	8336752	96811088	146388285	11	65476											
CCDC74A	90557	broad.mit.edu	37	chr2	132290593	132290593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccttcacccagggaccaaGaagccacgcatttccccaag	11	7	7	16	1	1	1	1	0	0	1	3	2	3	2	6	1	1	1	6	1	3	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:132290593G>A	ENST00000295171.6	+	7	1096	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.E254K	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	320										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAGGGACCAAGAAGCCACGCA	0.617													21	103					0	0	0	0	A	132290593	G	A	132290593	3	1	346	1	0	0	0	0	1	0	0	0	2874	943	33	2	984	2	CCDC74A	2	132290593	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	35479505	132290593	110908780	12	65477											
TTN	7273	broad.mit.edu	37	chr2	179537157	179537157	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagctgggggaacagcttccTttttaggcacaaggactttc	9	12	11	9	0	0	0	0	0	0	0	2	2	1	2	1	4	3	3	1	4	4	6			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:179537157T>A	ENST00000589042.1	-	154	35131	c.34907A>T	c.(34906-34908)aAg>aTg	p.K11636M	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K11262M|TTN_ENST00000342992.6_Missense_Mutation_p.K10335M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11472	Glu-rich.|Pro-rich.						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)			AACAGCTTCCTTTTTAGGCAC	0.353													65	171					0	0	0	0	A	179537157	T	A	179537157	3	1	346	1	0	0	0	0	1	0	0	0	16831	1609	56	5	69637	5	TTN	2	179537157	Missense_Mutation	SNP	T	TCGA-CV-A6JD-01A-11D-A31L-08	47246564	179537157	63662216	13	65478											
COL3A1	1281	broad.mit.edu	37	chr2	189850437	189850437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtgaccctggtattccagGacaaccagggtcccctggtt	7	10	12	12	0	0	1	0	1	0	0	2	2	2	2	5	5	1	2	5	5	2	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:189850437G>A	ENST00000304636.3	+	4	550	c.380G>A	c.(379-381)gGa>gAa	p.G127E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G127E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	127					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTATTCCAGGACAACCAGGG	0.443													6	34					0	0	0	0	A	189850437	G	A	189850437	3	1	346	1	0	0	0	0	1	0	0	0	3718	1174	41	2	394	2	COL3A1	2	189850437	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	10313280	189850437	53348936	14	65479											
CASP8	841	broad.mit.edu	37	chr2	202151283	202151283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcctcagcctactttcaCactaagaaaaaaacttgtct	14	11	5	11	0	3	1	2	0	1	1	3	2	3	1	2	0	4	0	2	0	5	4			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:202151283C>T	ENST00000358485.4	+	9	1779	c.1583C>T	c.(1582-1584)aCa>aTa	p.T528I	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.T385I|CASP8_ENST00000264275.5_Missense_Mutation_p.T486I|CASP8_ENST00000323492.7_Missense_Mutation_p.T454I|CASP8_ENST00000432109.2_Missense_Mutation_p.T469I	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	469					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTACTTTCACACTAAGAAAA	0.398										HNSCC(4;0.00038)			9	33					0	0	0	0	T	202151283	C	T	202151283	3	4	346	1	0	0	0	0	1	0	0	0	2702	478	17	4	1717	4	CASP8	2	202151283	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	12300846	202151283	41048090	15	65480											
PARD3B	117583	broad.mit.edu	37	chr2	206037056	206037056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccatggagggaaacatccGagggatgatccagttggtga	11	8	15	7	1	0	2	0	2	0	0	3	6	3	5	3	4	1	1	3	4	1	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:206037056G>A	ENST00000406610.2	+	12	1949	c.1742G>A	c.(1741-1743)cGa>cAa	p.R581Q	PARD3B_ENST00000462231.1_Missense_Mutation_p.R581Q|PARD3B_ENST00000349953.3_Missense_Mutation_p.R581Q|PARD3B_ENST00000358768.2_Missense_Mutation_p.R519Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.R581Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	581	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGAAACATCCGAGGGATGATC	0.493													19	34					0	0	0	0	A	206037056	G	A	206037056	3	1	346	1	0	0	0	0	1	0	0	0	11515	1058	37	1	1788	1	PARD3B	2	206037056	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	3885773	206037056	37162317	16	65481											
NRP2	8828	broad.mit.edu	37	chr2	206588569	206588569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaacttcgttcatcgaCggggatcctctccctgacct	6	12	8	15	3	3	2	1	2	2	0	7	4	4	3	3	2	1	1	3	2	1	2	rs138033888	byFrequency	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:206588569C>T	ENST00000360409.3	+	5	1516	c.725C>T	c.(724-726)aCg>aTg	p.T242M	NRP2_ENST00000357785.5_Missense_Mutation_p.T242M|NRP2_ENST00000540841.1_Missense_Mutation_p.T242M|NRP2_ENST00000540178.1_Missense_Mutation_p.T242M|NRP2_ENST00000355117.4_Missense_Mutation_p.T242M|NRP2_ENST00000417189.1_Missense_Mutation_p.T242M|NRP2_ENST00000357118.4_Missense_Mutation_p.T242M|NRP2_ENST00000272849.3_Missense_Mutation_p.T242M|NRP2_ENST00000412873.2_Missense_Mutation_p.T242M	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	242	CUB 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CGTTCATCGACGGGGATCCTC	0.527													10	20					0	0	0	0	T	206588569	C	T	206588569	3	4	346	1	0	0	0	0	1	0	0	0	10732	536	19	1	743	1	NRP2	2	206588569	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	551513	206588569	36610804	17	65482											
PTPRG	5793	broad.mit.edu	37	chr3	62258702	62258702	+	Frame_Shift_Del	DEL	C	C	-																															gacaaaagcacagttaacgtCctgggattcctgaagcatat																										TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:62258702delC	ENST00000474889.1	+	22	3641	c.3264delC	c.(3262-3264)gtfs	p.V1088fs	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Frame_Shift_Del_p.V1059fs|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1088	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGTTAACGTCCTGGGATTCC	0.478													7	32	---	---	---	---					-	62258702	C	-	62258702	7	5	346	1	0	1	0	1	0	0	0	0	12884	842	30	0	3350	0	PTPRG	3	62258702	Frame_Shift_Del	DEL	C	TCGA-CV-A6JD-01A-11D-A31L-08		62258702	135763728	18	65483											
DZIP3	9666	broad.mit.edu	37	chr3	108391474	108391474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catacgtaagcaaactgaacGcagaaactagcagagcttta	17	7	8	9	2	0	3	0	1	0	2	0	3	0	3	0	0	7	5	0	0	7	5			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:108391474G>A	ENST00000361582.3	+	23	2790	c.2560G>A	c.(2560-2562)Gca>Aca	p.A854T	DZIP3_ENST00000463306.1_Missense_Mutation_p.A854T	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	854					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CAAACTGAACGCAGAAACTAG	0.393													18	46					0	0	0	0	A	108391474	G	A	108391474	3	1	346	1	0	0	0	0	1	0	0	0	4901	1087	38	1	2646	1	DZIP3	3	108391474	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	46132772	108391474	89630956	19	65484											
ARGFX	503582	broad.mit.edu	37	chr3	121305359	121305359	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaaacctggcccaataTgacaagccaagcctttgaag	14	7	8	12	0	0	2	0	2	0	0	0	2	0	2	4	1	4	1	4	1	6	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:121305359T>C	ENST00000334384.3	+	4	870	c.860T>C	c.(859-861)aTg>aCg	p.M287T		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	287						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TGGCCCAATATGACAAGCCAA	0.488													15	40					0	0	0	0	C	121305359	T	C	121305359	3	2	346	1	0	0	0	0	1	0	0	0	861	1464	51	5	874	5	ARGFX	3	121305359	Missense_Mutation	SNP	T	TCGA-CV-A6JD-01A-11D-A31L-08	12913885	121305359	76717071	20	65485											
CCNL1	57018	broad.mit.edu	37	chr3	156870850	156870850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgcttgacatgaacaCaaaatcccaactcctttagc	14	9	7	11	0	0	2	0	2	0	0	2	4	2	3	2	1	4	1	2	1	5	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:156870850C>T	ENST00000295926.3	-	4	702	c.584G>A	c.(583-585)tGt>tAt	p.C195Y	CCNL1_ENST00000461804.1_Missense_Mutation_p.C195Y|CCNL1_ENST00000479052.1_5'UTR	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	195					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GACATGAACACAAAATCCCAA	0.358													30	62					0	0	0	0	T	156870850	C	T	156870850	3	4	346	1	0	0	0	0	1	0	0	0	2960	478	17	4	1028	4	CCNL1	3	156870850	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	35565491	156870850	41151580	21	65486											
PSMD2	5708	broad.mit.edu	37	chr3	184019655	184019655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctggcaggagaagtggCtaaggagtggcaggagctgg	10	6	19	6	0	1	1	0	0	1	1	1	4	1	3	0	7	1	5	0	7	2	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:184019655C>A	ENST00000310118.4	+	5	1058	c.500C>A	c.(499-501)gCt>gAt	p.A167D	PSMD2_ENST00000459910.1_3'UTR|PSMD2_ENST00000435761.1_Missense_Mutation_p.A8D|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.A37D	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GGAGAAGTGGCTAAGGAGTGG	0.552													24	59					3.6726e-16	4.36846e-16	1	0	A	184019655	C	A	184019655	3	1	346	1	0	0	0	0	1	0	0	0	12777	797	28	4	518	4	PSMD2	3	184019655	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	27148805	184019655	14002775	22	65487											
ATP13A3	79572	broad.mit.edu	37	chr3	194149619	194149619	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccagatcaatgaagagaaActggaagtctcctaggttac	14	9	10	8	0	2	3	1	1	1	2	3	5	2	4	2	2	3	1	2	2	6	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:194149619A>G	ENST00000439040.1	-	28	3693	c.2902T>C	c.(2902-2904)Ttt>Ctt	p.F968L	ATP13A3_ENST00000256031.4_Missense_Mutation_p.F968L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	968					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATGAAGAGAAACTGGAAGTCT	0.294													6	12					0	0	0	0	G	194149619	A	G	194149619	3	3	346	1	0	0	0	0	1	0	0	0	1129	43	2	5	802	5	ATP13A3	3	194149619	Missense_Mutation	SNP	A	TCGA-CV-A6JD-01A-11D-A31L-08	10129964	194149619	3872811	23	65488											
KIAA1211	57482	broad.mit.edu	37	chr4	57189692	57189692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgggaggagagaaagcaaGccagagaggccaaacaggca	16	0	16	9	2	0	2	0	0	0	2	0	6	0	4	2	4	3	2	2	4	3	0			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:57189692G>T	ENST00000504228.1	+	7	3442	c.3337G>T	c.(3337-3339)Gcc>Tcc	p.A1113S	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A1106S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A1113S			Q6ZU35	K1211_HUMAN	KIAA1211	1113										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGAAAGCAAGCCAGAGAGGC	0.507													9	14					4.68919e-08	5.28143e-08	1	0	T	57189692	G	T	57189692	3	4	346	1	0	0	0	0	1	0	0	0	8266	971	34	4	3359	4	KIAA1211	4	57189692	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08		57189692	133964584	24	65489											
UGT2B28	54490	broad.mit.edu	37	chr4	70160421	70160421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccactctttggatgtgattgGgtttctgctggcctgtgtgg	3	16	14	8	0	2	1	0	1	2	0	2	2	2	2	2	4	1	2	2	4	0	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:70160421G>T	ENST00000335568.5	+	6	1486	c.1484G>T	c.(1483-1485)gGg>gTg	p.G495V	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	495					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GATGTGATTGGGTTTCTGCTG	0.453													32	86					7.72975e-29	9.29215e-29	1	0	T	70160421	G	T	70160421	3	4	346	1	0	0	0	0	1	0	0	0	17056	1232	43	4	1506	4	UGT2B28	4	70160421	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	12970729	70160421	120993855	25	65490											
CCDC158	339965	broad.mit.edu	37	chr4	77274320	77274320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtaaccttttctttcaaacGgcgttcctgagatcgcagaa	11	12	8	10	3	2	2	1	1	1	2	4	3	3	2	2	1	2	3	2	1	3	5			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:77274320G>A	ENST00000388914.3	-	15	2553	c.2401C>T	c.(2401-2403)Cgt>Tgt	p.R801C		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	801										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCTTTCAAACGGCGTTCCTGA	0.353													12	36					0	0	0	0	A	77274320	G	A	77274320	3	1	346	1	0	0	0	0	1	0	0	0	2816	1116	39	1	980	1	CCDC158	4	77274320	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	7113899	77274320	113879956	26	65491											
SHROOM3	57619	broad.mit.edu	37	chr4	77660200	77660200	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatggacaatacttctgctCgaggtggcctcctcgaaggg	8	9	12	12	2	1	0	0	0	1	0	4	3	2	1	3	4	2	1	3	4	3	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:77660200C>T	ENST00000296043.6	+	5	1827	c.874C>T	c.(874-876)Cga>Tga	p.R292*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	292					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TACTTCTGCTCGAGGTGGCCT	0.547													12	43					0	0	0	0	T	77660200	C	T	77660200	4	4	346	1	0	0	0	0	0	1	0	0	14383	876	31	1	892	1	SHROOM3	4	77660200	Nonsense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	385880	77660200	113494076	27	65492											
SEC31A	22872	broad.mit.edu	37	chr4	83785613	83785613	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgactgcacagcctgctGaagttggtctgatcggctga	7	12	13	9	1	1	4	0	4	1	0	2	4	1	4	1	2	3	4	1	2	1	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:83785613G>A	ENST00000432794.1	-	11	1499	c.1336C>T	c.(1336-1338)Cag>Tag	p.Q446*	SEC31A_ENST00000500777.2_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.Q441*|SEC31A_ENST00000395310.2_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.Q218*			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	446	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACAGCCTGCTGAAGTTGGTCT	0.438													18	54					0	0	0	0	A	83785613	G	A	83785613	4	1	346	1	0	0	0	0	0	1	0	0	14085	1299	45	2	2394	2	SEC31A	4	83785613	Nonsense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	6125413	83785613	107368663	28	65493											
WDFY3	23001	broad.mit.edu	37	chr4	85642584	85642584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctccttcctctaacaggCgcagtaaggtagcattatct	9	14	7	11	1	3	0	0	0	3	0	5	0	4	0	2	2	2	4	2	2	4	6			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:85642584C>T	ENST00000322366.6	-	46	7939	c.7532G>A	c.(7531-7533)cGc>cAc	p.R2511H	WDFY3_ENST00000295888.4_Missense_Mutation_p.R2528H			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2528						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTCTAACAGGCGCAGTAAGGT	0.428													30	76					0	0	0	0	T	85642584	C	T	85642584	3	4	346	1	0	0	0	0	1	0	0	0	17366	768	27	1	3085	1	WDFY3	4	85642584	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	1856971	85642584	105511692	29	65494											
ANK2	287	broad.mit.edu	37	chr4	114254240	114254240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggagatccctcactttgcGgcccttcgaggaaaggaaag	10	8	13	10	2	1	1	1	0	0	1	3	5	2	3	2	4	1	0	2	4	2	2	rs56173868	byFrequency	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:114254240G>A	ENST00000357077.4	+	29	3308	c.3255G>A	c.(3253-3255)gcG>gcA	p.A1085A	ANK2_ENST00000506722.1_Silent_p.A1076A|ANK2_ENST00000394537.3_Silent_p.A1085A|ANK2_ENST00000264366.6_Silent_p.A1052A|ANK2_ENST00000509550.1_Silent_p.A261A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1052	Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCACTTTGCGGCCCTTCGAG	0.502													62	37					0	0	0	0	A	114254240	G	A	114254240	2	1	346	1	0	0	0	0	0	0	0	1	621	1103	39	1		1	ANK2	4	114254240	Silent	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	28611656	114254240	76900036	30	65495											
FAT1	2195	broad.mit.edu	37	chr4	187630542	187630542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtgggtgagaataacGgtctcaagtcatttgtatcc	11	12	12	6	1	2	2	2	2	1	1	4	3	3	2	1	3	1	1	1	3	4	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:187630542G>A	ENST00000441802.2	-	2	649	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	147	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGAGAATAACGGTCTCAAGTC	0.458										HNSCC(5;0.00058)			98	80					0	0	0	0	A	187630542	G	A	187630542	3	1	346	1	0	0	0	0	1	0	0	0	5734	1116	39	1	13430	1	FAT1	4	187630542	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	73376302	187630542	3523734	31	65496											
HCN1	348980	broad.mit.edu	37	chr5	45353264	45353264	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaaagattttgccttggtAtctgtgttcatagtaatcat	11	17	7	6	0	4	1	3	0	1	1	4	1	4	1	1	1	1	3	1	1	4	7			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr5:45353264A>G	ENST00000303230.4	-	5	1372	c.1315T>C	c.(1315-1317)Tac>Cac	p.Y439H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	439						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGCCTTGGTATCTGTGTTCA	0.353													13	29					0	0	0	0	G	45353264	A	G	45353264	3	3	346	1	0	0	0	0	1	0	0	0	7046	449	16	5	1373	5	HCN1	5	45353264	Missense_Mutation	SNP	A	TCGA-CV-A6JD-01A-11D-A31L-08		45353264	135561996	32	65497											
PCDHB7	56129	broad.mit.edu	37	chr5	140554045	140554045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcccccgcgctgagcagCgaggcgctggtgcgcgtgct	3	6	17	15	6	0	1	0	1	0	0	1	2	1	1	2	3	4	5	2	3	0	0			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr5:140554045C>A	ENST00000231137.3	+	1	1803	c.1629C>A	c.(1627-1629)agC>agA	p.S543R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		543	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S543R(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGAGCAGCGAGGCGCTGG	0.701													4	108					0.00909568	0.00951678	1	0	A	140554045	C	A	140554045	3	1	346	1	0	0	0	0	1	0	0	0	11618	767	27	3	1631	3	PCDHB7	5	140554045	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	95200781	140554045	40361215	33	65498											
ABLIM3	22885	broad.mit.edu	37	chr5	148577823	148577823	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaggcttcttcttcaagAaccaggagtacatctgcacc	11	10	8	12	0	5	1	2	0	3	1	5	2	5	2	2	2	3	3	2	2	3	4			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr5:148577823A>G	ENST00000506113.1	+	3	675	c.193A>G	c.(193-195)Aac>Gac	p.N65D	ABLIM3_ENST00000508983.1_Missense_Mutation_p.N65D|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.N65D|ABLIM3_ENST00000356541.3_Missense_Mutation_p.N65D|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.N65D|ABLIM3_ENST00000309868.7_Missense_Mutation_p.N65D			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	65	LIM zinc-binding 1.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTCAAGAACCAGGAGTA	0.572													27	68					0	0	0	0	G	148577823	A	G	148577823	3	3	346	1	0	0	0	0	1	0	0	0	96	246	9	5	203	5	ABLIM3	5	148577823	Missense_Mutation	SNP	A	TCGA-CV-A6JD-01A-11D-A31L-08	8023778	148577823	32337437	34	65499											
TNIP1	10318	broad.mit.edu	37	chr5	150436431	150436431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagagctggccgtggtccgGctcctcggcacacacactca	8	6	12	15	3	1	1	1	0	0	1	4	2	3	1	3	4	1	3	3	4	1	0			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr5:150436431G>A	ENST00000389378.2	-	6	1111	c.523C>T	c.(523-525)Ccg>Tcg	p.P175S	TNIP1_ENST00000523338.1_Missense_Mutation_p.P175S|TNIP1_ENST00000522226.1_Missense_Mutation_p.P175S|TNIP1_ENST00000315050.7_Missense_Mutation_p.P175S|TNIP1_ENST00000518977.1_Missense_Mutation_p.P175S|TNIP1_ENST00000521591.1_Missense_Mutation_p.P175S|TNIP1_ENST00000523200.1_Missense_Mutation_p.P175S|TNIP1_ENST00000524280.1_Missense_Mutation_p.P175S|TNIP1_ENST00000520931.1_Missense_Mutation_p.P122S	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	175	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGTGGTCCGGCTCCTCGGCA	0.652													12	48					0	0	0	0	A	150436431	G	A	150436431	3	1	346	1	0	0	0	0	1	0	0	0	16408	1203	42	4	1439	4	TNIP1	5	150436431	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	1858608	150436431	30478829	35	65500											
OR11A1	26531	broad.mit.edu	37	chr6	29394621	29394621	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggagaggagctgggaatgGacagcagagggtgcaacata	13	6	17	5	0	0	2	0	0	0	2	0	6	0	5	0	5	4	3	0	5	3	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr6:29394621G>T	ENST00000377149.1	-	5	1270	c.798C>A	c.(796-798)gtC>gtA	p.V266V	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Silent_p.V266V|OR11A1_ENST00000377147.2_Silent_p.V266V			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GCTGGGAATGGACAGCAGAGG	0.512													18	66					6.94344e-10	7.92534e-10	1	0	T	29394621	G	T	29394621	2	4	346	1	0	0	0	0	0	0	0	1	10995	1161	41	2		2	OR11A1	6	29394621	Silent	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08		29394621	141720446	36	65501											
HLA-B	3106	broad.mit.edu	37	chr6	31324917	31324917	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcaggaggacggttcGgggcgccatgaccagcatct	9	5	16	11	3	1	1	0	1	1	0	2	4	1	3	2	5	3	4	2	5	0	1	rs41553720		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr6:31324917G>A	ENST00000412585.2	-	1	47	c.19C>T	c.(19-21)Cga>Tga	p.R7*		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGGACGGTTCGGGGCGCCATG	0.682									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				10	6					0	0	0	0	A	31324917	G	A	31324917	4	1	346	1	0	0	0	0	0	1	0	0	7246	1124	39	1	1097	1	HLA-B	6	31324917	Nonsense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	1930296	31324917	139790150	37	65502											
KCNQ5	56479	broad.mit.edu	37	chr6	73900322	73900322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttcatgttgcaaaacGgaagtttaaggaaacattac	17	11	8	5	1	1	0	1	0	0	0	1	3	1	2	0	2	4	3	0	2	7	5			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr6:73900322G>A	ENST00000342056.2	+	13	2059	c.1661G>A	c.(1660-1662)cGg>cAg	p.R554Q	KCNQ5_ENST00000414165.2_Missense_Mutation_p.R425Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R526Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R545Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R535Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R536Q|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R535Q	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	535					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GTTGCAAAACGGAAGTTTAAG	0.289													8	20					0	0	0	0	A	73900322	G	A	73900322	3	1	346	1	0	0	0	0	1	0	0	0	8139	1116	39	1	1711	1	KCNQ5	6	73900322	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	42575405	73900322	97214745	38	65503											
HTR1E	3354	broad.mit.edu	37	chr6	87725712	87725712	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaaaaggggatcaagtcgGcacttaagcaacagaagcac	17	4	11	9	1	1	2	1	0	0	2	2	3	1	3	0	3	3	3	0	3	6	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr6:87725712G>A	ENST00000305344.4	+	2	1363	c.660G>A	c.(658-660)cgG>cgA	p.R220R	HTR1E_ENST00000369584.1_Silent_p.R220R	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	220					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GATCAAGTCGGCACTTAAGCA	0.458													39	99					0	0	0	0	A	87725712	G	A	87725712	2	1	346	1	0	0	0	0	0	0	0	1	7492	1190	42	4		4	HTR1E	6	87725712	Silent	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	13825390	87725712	83389355	39	65504											
RAC1	5879	broad.mit.edu	37	chr7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacctggagtgctcggCgctcacacagcgaggcctca	11	6	11	13	3	2	0	2	0	0	0	3	2	2	1	2	3	3	2	2	3	3	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.A178V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GAGTGCTCGGCGCTCACACAG	0.567													29	71					0	0	0	0	T	6441974	C	T	6441974	3	4	346	1	0	0	0	0	1	0	0	0	13056	768	27	1	559	1	RAC1	7	6441974	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08		6441974	152696689	40	65505											
HOXA7	3204	broad.mit.edu	37	chr7	27196070	27196070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcttctctgtgagttgggaGcaaaggagcaagaagtcggc	10	8	15	8	2	1	2	0	1	1	1	3	4	1	4	0	3	2	4	0	3	3	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr7:27196070G>A	ENST00000242159.3	-	1	228	c.95C>T	c.(94-96)gCt>gTt	p.A32V		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	32					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						TGAGTTGGGAGCAAAGGAGCA	0.542													4	127					0	0	0	0	A	27196070	G	A	27196070	3	1	346	1	0	0	0	0	1	0	0	0	7347	971	34	4	605	4	HOXA7	7	27196070	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	20754096	27196070	131942593	41	65506											
MAGI2	9863	broad.mit.edu	37	chr7	77973170	77973170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcagaaactcatcaggctCgtctccaccaatgatggtaa	12	9	8	12	1	3	2	2	1	1	1	5	2	3	2	2	2	2	3	2	2	3	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr7:77973170C>T	ENST00000354212.4	-	9	1586	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	MAGI2_ENST00000535697.1_Missense_Mutation_p.E282K|MAGI2_ENST00000536571.1_Missense_Mutation_p.E277K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E445K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E445K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	445	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCATCAGGCTCGTCTCCACCA	0.478													17	36					0	0	0	0	T	77973170	C	T	77973170	3	4	346	1	0	0	0	0	1	0	0	0	9260	893	31	1	3090	1	MAGI2	7	77973170	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	50777100	77973170	81165493	42	65507											
CSMD3	114788	broad.mit.edu	37	chr8	113347648	113347648	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtactgtagactgattccaAagcggtattgccactgaact	12	11	9	9	1	0	3	0	2	0	1	1	3	1	3	2	1	4	3	2	1	5	5			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr8:113347648A>G	ENST00000297405.5	-	45	7319	c.7075T>C	c.(7075-7077)Ttg>Ctg	p.L2359L	CSMD3_ENST00000343508.3_Silent_p.L2319L|CSMD3_ENST00000352409.3_Silent_p.L2289L|CSMD3_ENST00000455883.2_Silent_p.L2255L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2359	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTGATTCCAAAGCGGTATTG	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	41					0	0	0	0	G	113347648	A	G	113347648	2	3	346	1	0	0	0	0	0	0	0	1	3978	11	1	5		5	CSMD3	8	113347648	Silent	SNP	A	TCGA-CV-A6JD-01A-11D-A31L-08		113347648	33016374	43	65508											
CYP11B1	1584	broad.mit.edu	37	chr8	143960853	143960854	+	Frame_Shift_Ins	INS	-	-	TGCA																															cgccacagaccagcacgtgcINStgcactccttccccatcttc																										TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr8:143960853_143960854insTGCA	ENST00000377675.3	-	2	288_289	c.282_283insTGCA	c.(280-285)gccacgfs	p.T95fs	CYP11B1_ENST00000292427.4_Intron|CYP11B1_ENST00000517471.1_Intron			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCAGCACGTGCTGCACTCCTTC	0.634									Familial Hyperaldosteronism type I				27	38	---	---	---	---					TGCA	143960854	-	TGCA	143960853	7	5	346	1	0	1	1	0	0	0	0	0	4177	812	28	0		0	CYP11B1	8	143960853	Frame_Shift_Ins	INS	-	TCGA-CV-A6JD-01A-11D-A31L-08	30613205	143960853	2403169	44	65509											
NRBP2	340371	broad.mit.edu	37	chr8	144917992	144917992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcaccgcccagcgcacctCgtggaggaagccatagtgca	9	4	12	16	4	0	0	0	0	0	0	1	2	0	2	5	2	3	3	5	2	2	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr8:144917992C>T	ENST00000442628.2	-	17	1574	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	NRBP2_ENST00000327830.5_Missense_Mutation_p.E236K	NM_178564.3	NP_848659.2	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	479					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CAGCGCACCTCGTGGAGGAAG	0.751													15	9					0	0	0	0	T	144917992	C	T	144917992	3	4	346	1	0	0	0	0	1	0	0	0	10714	893	31	1	78	1	NRBP2	8	144917992	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	957139	144917992	1446030	45	65510											
RECQL4	9401	broad.mit.edu	37	chr8	145738640	145738640	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagtgggcaggctgcccGtcacgcccggcccggcccac	4	4	15	18	4	1	0	1	0	0	0	1	0	1	0	4	5	1	3	4	5	0	0			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr8:145738640G>A	ENST00000428558.2	-	15	2465	c.2424C>T	c.(2422-2424)gaC>gaT	p.D808D	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	808	Helicase C-terminal.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGGCTGCCCGTCACGCCCGG	0.726			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				17	25					0	0	0	0	A	145738640	G	A	145738640	2	1	346	1	0	0	0	0	0	0	0	1	13284	1144	40	1		1	RECQL4	8	145738640	Silent	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	820648	145738640	625382	46	65511											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			16	14					0	0	0	0	A	21971120	G	A	21971120	4	1	346	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08		21971120	119242311	47	65512											
SPAG8	26206	broad.mit.edu	37	chr9	35811864	35811884	+	In_Frame_Del	DEL	GCTGCAGCAGCTGATGCAGCC	GCTGCAGCAGCTGATGCAGCC	-																															cagtggtgaaggctgcagtaGctgcagcagctgatgcagcc																								rs143976174	byFrequency	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:35811864_35811884delGCTGCAGCAGCTGATGCAGCC	ENST00000340291.2	-	2	283_303	c.159_179delGGCTGCATCAGCTGCTGCAGC	c.(157-180)gct>gc	p.AAASAAAA53del	SPAG8_ENST00000396638.2_In_Frame_Del_p.AAASAAAA53del|SPAG8_ENST00000484764.1_In_Frame_Del_p.AAASAAAA51del	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	53	Ala-rich.					acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			Ggctgcagtagctgcagcagctgatgcagccgctgcagctg	0.602													18	59	---	---	---	---					-	35811884	GCTGCAGCAGCTGATGCAGCC	-	35811864	7	5	346	1	0	1	0	1	0	0	0	0	15074	971	34	0	1553	0	SPAG8	9	35811864	In_Frame_Del	DEL	GCTGCAGCAGCTGATGCAGCC	TCGA-CV-A6JD-01A-11D-A31L-08	13840744	35811864	105401567	48	65513											
NTRK2	4915	broad.mit.edu	37	chr9	87339194	87339194	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactaacatttcatccgatgAcagtgggaagcagatctctt	13	11	8	9	1	2	2	1	1	1	1	4	4	3	3	1	1	3	1	1	1	3	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:87339194A>G	ENST00000304053.6	+	8	1259	c.776A>G	c.(775-777)gAc>gGc	p.D259G	NTRK2_ENST00000395866.2_Missense_Mutation_p.D103G|NTRK2_ENST00000359847.3_Missense_Mutation_p.D259G|NTRK2_ENST00000395882.1_Missense_Mutation_p.D259G|NTRK2_ENST00000376208.1_Missense_Mutation_p.D259G|NTRK2_ENST00000277120.3_Missense_Mutation_p.D259G|NTRK2_ENST00000376213.1_Missense_Mutation_p.D259G|NTRK2_ENST00000323115.4_Missense_Mutation_p.D259G|NTRK2_ENST00000376214.1_Missense_Mutation_p.D259G	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	259	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TCATCCGATGACAGTGGGAAG	0.403										TSP Lung(25;0.17)			29	130					0	0	0	0	G	87339194	A	G	87339194	3	3	346	1	0	0	0	0	1	0	0	0	10778	275	10	5	802	5	NTRK2	9	87339194	Missense_Mutation	SNP	A	TCGA-CV-A6JD-01A-11D-A31L-08	51527330	87339194	53874237	49	65514											
PHYHD1	254295	broad.mit.edu	37	chr9	131696336	131696336	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcaacaaaattggccaCggtgagcaggggcttggggg	10	7	15	9	1	1	1	1	1	0	0	2	1	2	1	2	6	2	2	2	6	3	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:131696336C>T	ENST00000372592.3	+	6	1248	c.316_splice	c.e6+1	p.H105_splice	PHYHD1_ENST00000421063.2_Splice_Site_p.H105_splice|PHYHD1_ENST00000353176.5_Splice_Site_p.H105_splice|PHYHD1_ENST00000308941.5_Splice_Site_p.H105_splice	NM_001100876.1	NP_001094346.1			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						AAATTGGCCACGGTGAGCAGG	0.507													21	66					0	0	0	0	T	131696336	C	T	131696336	5	4	346	1	0	0	0	0	0	0	1	0	11937	550	19	1	329	1	PHYHD1	9	131696336	Splice_Site	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	44357142	131696336	9517095	50	65515											
VAV2	7410	broad.mit.edu	37	chr9	136633698	136633698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctggccacagctgtgcCgatgacgcggggcgtgaaca	9	6	14	12	4	0	2	0	2	0	0	0	3	0	2	3	3	4	1	3	3	2	1	rs148033881		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:136633698C>T	ENST00000371851.1	-	27	2750	c.2425G>A	c.(2425-2427)Ggc>Agc	p.G809S	VAV2_ENST00000371850.3_Missense_Mutation_p.G819S|VAV2_ENST00000406606.3_Missense_Mutation_p.G780S			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	819					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ACAGCTGTGCCGATGACGCGG	0.622													11	46					0	0	0	0	T	136633698	C	T	136633698	3	4	346	1	0	0	0	0	1	0	0	0	17228	652	23	1	189	1	VAV2	9	136633698	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	4937362	136633698	4579733	51	65516											
TIMM23	100287932	broad.mit.edu	37	chr10	51592529	51592529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgactgttggagcaaggagCctttcatgtgctcccagtta	8	12	12	9	0	1	1	1	1	0	0	2	3	2	3	2	2	3	4	2	2	2	3	rs150556806		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr10:51592529C>T	ENST00000260867.4	-	7	728	c.605G>A	c.(604-606)gGc>gAc	p.G202D	TIMM23_ENST00000374065.3_Missense_Mutation_p.G165D|TIMM23_ENST00000485812.1_5'UTR|TIMM23_ENST00000374064.3_Missense_Mutation_p.G154D	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN	translocase of inner mitochondrial membrane 23 homolog (yeast)	202					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(1)|pancreas(1)	3						GAGCAAGGAGCCTTTCATGTG	0.443													13	44					0	0	0	0	T	51592529	C	T	51592529	3	4	346	1	0	0	0	0	1	0	0	0	16005	739	26	4	28	4	TIMM23	10	51592529	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08		51592529	83942218	52	65517											
HRAS	3265	broad.mit.edu	37	chr11	534286	534286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcactcttgcccacacCgccggcgcccaccaccacca	8	3	7	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	1	7	1	0	1	rs104894228		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:534286C>G	ENST00000417302.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			25	37					0	0	0	0	G	534286	C	G	534286	3	3	346	1	0	0	0	0	1	0	0	0	7398	652	23	3	615	3	HRAS	11	534286	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08		534286	134472230	53	65518											
RBMXL2	27288	broad.mit.edu	37	chr11	7110628	7110628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccggcgttcgagagcagcCggcggggcccgccgcctccc	5	3	15	18	7	0	1	0	0	0	1	2	2	1	1	6	4	3	2	6	4	1	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:7110628C>T	ENST00000306904.5	+	1	464	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	93	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGAGAGCAGCCGGCGGGGCCC	0.756													12	10					0	0	0	0	T	7110628	C	T	7110628	3	4	346	1	0	0	0	0	1	0	0	0	13236	643	23	1	279	1	RBMXL2	11	7110628	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	6576342	7110628	127895888	54	65519											
ST5	6764	broad.mit.edu	37	chr11	8751710	8751710	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggatcgagggaactcttcGatggcagccgctgggagcta	8	7	16	10	4	1	0	0	0	1	0	3	5	1	3	1	4	3	3	1	4	2	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:8751710G>T	ENST00000534127.1	-	6	1512	c.1127C>A	c.(1126-1128)tCg>tAg	p.S376*	ST5_ENST00000357665.1_Nonsense_Mutation_p.S376*|ST5_ENST00000313726.6_Nonsense_Mutation_p.S376*|ST5_ENST00000530438.1_Intron|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	376	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGAACTCTTCGATGGCAGCCG	0.612													58	159					1.39924e-13	1.61341e-13	1	0	T	8751710	G	T	8751710	4	4	346	1	0	0	0	0	0	1	0	0	15310	1059	37	3	2358	3	ST5	11	8751710	Nonsense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	1641082	8751710	126254806	55	65520											
MYOD1	4654	broad.mit.edu	37	chr11	17741780	17741780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaaggtggagatcctgCgcaacgccatccgctatatc	9	8	10	14	3	0	1	0	0	0	1	3	2	2	1	4	2	3	2	4	2	4	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:17741780C>T	ENST00000250003.3	+	1	666	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	151	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						GGAGATCCTGCGCAACGCCAT	0.667													7	37					0	0	0	0	T	17741780	C	T	17741780	3	4	346	1	0	0	0	0	1	0	0	0	10158	768	27	1	453	1	MYOD1	11	17741780	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	8990070	17741780	117264736	56	65521											
OR5D14	219436	broad.mit.edu	37	chr11	55563925	55563925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcctaaggaataaagaCgtgaaggatgctttctggaa	15	9	11	6	1	1	2	0	1	1	1	1	5	1	5	1	3	3	1	1	3	7	4	rs141238594		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:55563925C>T	ENST00000335605.1	+	1	894	c.894C>T	c.(892-894)gaC>gaT	p.D298D		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GGAATAAAGACGTGAAGGATG	0.413													12	39					0	0	0	0	T	55563925	C	T	55563925	2	4	346	1	0	0	0	0	0	0	0	1	11226	535	19	1		1	OR5D14	11	55563925	Silent	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	37822145	55563925	79442591	57	65522											
P2RX3	5024	broad.mit.edu	37	chr11	57114139	57114139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggatgtgtctgattacGtgacgccacctcaggtatgg	8	12	12	9	2	3	2	2	2	1	0	3	3	3	3	2	3	1	1	2	3	2	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:57114139G>A	ENST00000263314.2	+	2	275	c.241G>A	c.(241-243)Gtg>Atg	p.V81M		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	81					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GTCTGATTACGTGACGCCACC	0.562													12	22					0	0	0	0	A	57114139	G	A	57114139	3	1	346	1	0	0	0	0	1	0	0	0	11412	1145	40	1	247	1	P2RX3	11	57114139	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	1550214	57114139	77892377	58	65523											
NUMA1	4926	broad.mit.edu	37	chr11	71724462	71724462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggcagaggtgcttagCtggcagcagctcactcacca	8	8	12	13	0	2	1	2	0	0	1	2	1	2	1	1	3	5	7	1	3	1	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:71724462C>T	ENST00000393695.3	-	15	4418	c.4087G>A	c.(4087-4089)Gct>Act	p.A1363T	NUMA1_ENST00000358965.6_Missense_Mutation_p.A1363T|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1363					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGGTGCTTAGCTGGCAGCAGC	0.657			T	RARA	APL								11	24					0	0	0	0	T	71724462	C	T	71724462	3	4	346	1	0	0	0	0	1	0	0	0	10821	797	28	4	2312	4	NUMA1	11	71724462	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	14610323	71724462	63282054	59	65524											
ARHGEF17	9828	broad.mit.edu	37	chr11	73064048	73064048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaaggtgggagccctgctCgtccagtcggtgagtggccc	6	7	16	12	2	0	2	0	1	0	1	3	3	1	3	3	4	2	1	3	4	1	0			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:73064048C>T	ENST00000263674.3	+	3	3794	c.3444C>T	c.(3442-3444)ctC>ctT	p.L1148L	ARHGEF17_ENST00000536170.1_3'UTR	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1148	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGCCCTGCTCGTCCAGTCGG	0.657													19	49					0	0	0	0	T	73064048	C	T	73064048	2	4	346	1	0	0	0	0	0	0	0	1	902	871	31	1		1	ARHGEF17	11	73064048	Silent	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	1339586	73064048	61942468	60	65525											
CAPN5	726	broad.mit.edu	37	chr11	76796060	76796060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgactcactctactataaggGcacgccggggcccgccgtca	8	6	11	16	5	3	0	2	0	1	0	3	1	3	0	3	3	1	1	3	3	3	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:76796060G>A	ENST00000278559.3	+	2	317	c.128G>A	c.(127-129)gGc>gAc	p.G43D	CAPN5_ENST00000529629.1_Missense_Mutation_p.G43D|CAPN5_ENST00000531028.1_Missense_Mutation_p.G43D|CAPN5_ENST00000456580.2_Missense_Mutation_p.G43D	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	43	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						TACTATAAGGGCACGCCGGGG	0.677													5	37					0	0	0	0	A	76796060	G	A	76796060	3	1	346	1	0	0	0	0	1	0	0	0	2654	1203	42	4	130	4	CAPN5	11	76796060	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	3732012	76796060	58210456	61	65526											
ABCG4	64137	broad.mit.edu	37	chr11	119031072	119031072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatctttggggctgctgatcGgagctgcttccaactcccta	7	12	10	12	1	1	1	0	1	1	0	4	2	3	2	2	3	4	4	2	3	3	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:119031072G>A	ENST00000307417.3	+	13	1937	c.1573G>A	c.(1573-1575)Gga>Aga	p.G525R	ABCG4_ENST00000449422.2_Missense_Mutation_p.G525R|ABCG4_ENST00000531739.1_Missense_Mutation_p.G525R	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	525	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTGCTGATCGGAGCTGCTTC	0.642													32	47					0	0	0	0	A	119031072	G	A	119031072	3	1	346	1	0	0	0	0	1	0	0	0	70	1117	39	1	1619	1	ABCG4	11	119031072	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	42235012	119031072	15975444	62	65527											
OR6X1	390260	broad.mit.edu	37	chr11	123624313	123624313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatgaccagtctttgggCaagtcattgcctttcttaag	8	15	9	9	0	3	1	1	1	2	0	3	1	3	1	2	1	2	2	2	1	2	5			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:123624313C>A	ENST00000327930.2	-	1	940	c.914G>T	c.(913-915)tGc>tTc	p.C305F		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGTCTTTGGGCAAGTCATTGC	0.393													15	78					6.31663e-08	6.99783e-08	1	0	A	123624313	C	A	123624313	3	1	346	1	0	0	0	0	1	0	0	0	11283	710	25	4	26	4	OR6X1	11	123624313	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	4593241	123624313	11382203	63	65528											
RAD51AP1	10635	broad.mit.edu	37	chr12	4657910	4657910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttcaagggaaaagaaaagCagcatctaaagctgcagcac	17	6	10	8	0	2	1	1	0	1	1	2	2	2	2	0	1	5	6	0	1	7	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:4657910C>T	ENST00000228843.9	+	7	565	c.515C>T	c.(514-516)gCa>gTa	p.A172V	RAD51AP1_ENST00000543041.1_Missense_Mutation_p.A37V|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.A155V|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.A172V|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.A155V	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	172					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AAAAGAAAAGCAGCATCTAAA	0.423													31	65					0	0	0	0	T	4657910	C	T	4657910	3	4	346	1	0	0	0	0	1	0	0	0	13068	710	25	4	541	4	RAD51AP1	12	4657910	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08		4657910	129193985	64	65529											
ATN1	1822	broad.mit.edu	37	chr12	7047737	7047737	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccgggcagtgcggtggctAcagtgcccccctacctgggt	6	7	14	14	2	0	0	0	0	0	0	0	0	0	0	5	4	5	2	5	4	3	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:7047737A>G	ENST00000356654.4	+	7	2848	c.2611A>G	c.(2611-2613)Aca>Gca	p.T871A	ATN1_ENST00000396684.2_Missense_Mutation_p.T871A	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	871					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGCGGTGGCTACAGTGCCCCC	0.617											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	44					0	0	0	0	G	7047737	A	G	7047737	3	3	346	1	0	0	0	0	1	0	0	0	1115	391	14	5	2633	5	ATN1	12	7047737	Missense_Mutation	SNP	A	TCGA-CV-A6JD-01A-11D-A31L-08	2389827	7047737	126804158	65	65530											
NUP107	57122	broad.mit.edu	37	chr12	69115632	69115632	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaaaaagctgcttcctgtCtgtgacacctgggaagacac	11	8	12	10	0	1	2	0	1	1	1	2	4	2	4	2	2	2	2	2	2	3	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:69115632C>T	ENST00000229179.4	+	16	1655	c.1323C>T	c.(1321-1323)gtC>gtT	p.V441V	NUP107_ENST00000378905.2_Silent_p.V290V|NUP107_ENST00000539906.1_Silent_p.V412V	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	441					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCTTCCTGTCTGTGACACCT	0.418													21	39					0	0	0	0	T	69115632	C	T	69115632	2	4	346	1	0	0	0	0	0	0	0	1	10824	900	32	2		2	NUP107	12	69115632	Silent	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	62067895	69115632	64736263	66	65531											
RIMBP2	23504	broad.mit.edu	37	chr12	130926628	130926628	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtagccaggagagctgggcGgagatctgcgtgatgttgtc	7	9	18	7	2	1	3	0	1	1	2	2	5	1	3	1	4	3	3	1	4	1	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:130926628G>A	ENST00000261655.4	-	8	1381	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	RIMBP2_ENST00000535703.1_Silent_p.S314S|RIMBP2_ENST00000536002.1_Silent_p.S314S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	406	Fibronectin type-III 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGAGCTGGGCGGAGATCTGCG	0.627													3	33					0	0	0	0	A	130926628	G	A	130926628	2	1	346	1	0	0	0	0	0	0	0	1	13446	1103	39	1		1	RIMBP2	12	130926628	Silent	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	61810996	130926628	2925267	67	65532											
MTMR6	9107	broad.mit.edu	37	chr13	25840048	25840048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattggtttgcttgctatcCggggaacataaagttctctg	8	16	10	7	1	1	0	0	0	1	0	3	1	2	1	1	3	3	4	1	3	5	7			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr13:25840048C>T	ENST00000381801.5	-	5	1261	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	MTMR6_ENST00000540661.1_Missense_Mutation_p.R167Q	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	167	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GCTTGCTATCCGGGGAACATA	0.373													17	41					0	0	0	0	T	25840048	C	T	25840048	3	4	346	1	0	0	0	0	1	0	0	0	10017	652	23	1	1405	1	MTMR6	13	25840048	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08		25840048	89329830	68	65533											
PCDH9	5101	broad.mit.edu	37	chr13	67205374	67205374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagttgccatctgcttcaGtcctcttgtccggagaggcc	6	11	11	13	1	3	2	1	0	2	2	5	3	5	2	4	2	2	2	4	2	0	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr13:67205374G>T	ENST00000544246.1	-	4	3999	c.3308C>A	c.(3307-3309)aCt>aAt	p.T1103N	PCDH9_ENST00000328454.5_Missense_Mutation_p.T1069N|PCDH9_ENST00000456367.1_Missense_Mutation_p.T1069N|PCDH9_ENST00000377865.2_Missense_Mutation_p.T1103N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1103					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ATCTGCTTCAGTCCTCTTGTC	0.502													23	87					1.26454e-06	1.37397e-06	1	0	T	67205374	G	T	67205374	3	4	346	1	0	0	0	0	1	0	0	0	11589	1029	36	4	413	4	PCDH9	13	67205374	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	41365326	67205374	47964504	69	65534											
NID2	22795	broad.mit.edu	37	chr14	52477629	52477629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcgatggcacggggattCaccagatctgtgtagaagag	12	7	14	8	2	2	3	1	0	1	3	2	5	2	4	1	3	1	2	1	3	2	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr14:52477629C>T	ENST00000216286.5	-	18	3686	c.3687G>A	c.(3685-3687)gtG>gtA	p.V1229V	NID2_ENST00000541773.1_Silent_p.V1128V	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1229						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CACGGGGATTCACCAGATCTG	0.527													34	84					0	0	0	0	T	52477629	C	T	52477629	2	4	346	1	0	0	0	0	0	0	0	1	10485	813	29	2		2	NID2	14	52477629	Silent	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08		52477629	54871911	70	65535											
SYT16	83851	broad.mit.edu	37	chr14	62551041	62551041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacaatgccacaacggggcGattatctgtggaaatgatca	13	9	11	8	2	2	1	1	1	1	0	2	3	2	2	1	3	3	1	1	3	5	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr14:62551041G>A	ENST00000430451.2	+	5	1759	c.1562G>A	c.(1561-1563)cGa>cAa	p.R521Q		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	521	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACAACGGGGCGATTATCTGTG	0.537													17	38					0	0	0	0	A	62551041	G	A	62551041	3	1	346	1	0	0	0	0	1	0	0	0	15563	1058	37	1	1580	1	SYT16	14	62551041	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	10073412	62551041	44798499	71	65536											
ZNF410	57862	broad.mit.edu	37	chr14	74360533	74360533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgttcagaatacgtccatcCcattgggacaggggcttgta	9	12	11	9	1	1	1	1	0	0	1	3	2	3	2	2	3	1	3	2	3	3	6			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr14:74360533C>T	ENST00000555044.1	+	3	261	c.67C>T	c.(67-69)Cca>Tca	p.P23S	ZNF410_ENST00000556797.1_5'UTR|ZNF410_ENST00000442160.3_Missense_Mutation_p.P23S|ZNF410_ENST00000324593.6_Missense_Mutation_p.P23S|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000540593.1_Missense_Mutation_p.P23S|ZNF410_ENST00000334521.4_5'UTR	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TACGTCCATCCCATTGGGACA	0.438													10	75					0	0	0	0	T	74360533	C	T	74360533	3	4	346	1	0	0	0	0	1	0	0	0	17985	623	22	4	73	4	ZNF410	14	74360533	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	11809492	74360533	32989007	72	65537											
XRCC3	7517	broad.mit.edu	37	chr14	104174902	104174902	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgtaaggaggccgttctCagcaagtgccagacctcggg	10	7	14	10	2	1	1	1	0	1	1	3	2	1	2	3	3	2	3	3	3	3	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr14:104174902C>T	ENST00000553264.1	-	3	946	c.150G>A	c.(148-150)ctG>ctA	p.L50L	XRCC3_ENST00000445556.1_Silent_p.L50L|XRCC3_ENST00000352127.7_Silent_p.L50L|XRCC3_ENST00000555055.1_Silent_p.L50L|XRCC3_ENST00000554913.1_Silent_p.L50L|XRCC3_ENST00000554974.1_Intron			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	50					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		AGGCCGTTCTCAGCAAGTGCC	0.547								Direct reversal of damage;Homologous recombination					17	25					0	0	0	0	T	104174902	C	T	104174902	2	4	346	1	0	0	0	0	0	0	0	1	17550	813	29	2		2	XRCC3	14	104174902	Silent	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	29814369	104174902	3174638	73	65538											
PCSK6	5046	broad.mit.edu	37	chr15	101906469	101906469	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtccactgcccttcagccTtttctccccagcagtggaca	7	10	8	16	0	2	0	1	0	1	0	4	1	3	1	5	2	3	1	5	2	0	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr15:101906469T>C	ENST00000348070.1	-	14	1786	c.1787A>G	c.(1786-1788)aAg>aGg	p.K596R	PCSK6_ENST00000358417.3_Missense_Mutation_p.K596R|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Missense_Mutation_p.K431R|PCSK6_ENST00000344273.2_Missense_Mutation_p.K596R|PCSK6_ENST00000398181.2_Missense_Mutation_p.K596R	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	597	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCTTCAGCCTTTTCTCCCCA	0.507													3	42					0	0	0	0	C	101906469	T	C	101906469	3	2	346	1	0	0	0	0	1	0	0	0	11675	1609	56	5	1588	5	PCSK6	15	101906469	Missense_Mutation	SNP	T	TCGA-CV-A6JD-01A-11D-A31L-08		101906469	624923	74	65539											
C16orf89	146556	broad.mit.edu	37	chr16	5115822	5115822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaatggtggctttactttCagcagtgtccagcccaggca	8	11	11	11	0	1	0	1	0	0	0	2	0	2	0	2	3	4	4	2	3	2	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr16:5115822C>T	ENST00000315997.5	-	1	289	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	C16orf89_ENST00000474471.3_Missense_Mutation_p.E30K|C16orf89_ENST00000350219.4_Missense_Mutation_p.E68K|C16orf89_ENST00000472572.3_Missense_Mutation_p.E30K|C16orf89_ENST00000422873.1_Missense_Mutation_p.E68K|ALG1_ENST00000588623.1_Intron	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	30						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GCTTTACTTTCAGCAGTGTCC	0.602													10	35					0	0	0	0	T	5115822	C	T	5115822	3	4	346	1	0	0	0	0	1	0	0	0	1855	835	29	2	1287	2	C16orf89	16	5115822	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08		5115822	85238931	75	65540											
STX1B	112755	broad.mit.edu	37	chr16	31012508	31012508	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatgcagccccggatctCttccacctggagcagaaaat	11	8	8	14	1	2	1	1	0	1	1	4	3	3	3	4	2	3	2	4	2	3	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr16:31012508C>A	ENST00000215095.5	-	3	343	c.112G>T	c.(112-114)Gag>Tag	p.E38*	STX1B_ENST00000565419.1_Nonsense_Mutation_p.E38*	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	38					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						CCCCGGATCTCTTCCACCTGG	0.577													13	18					0.0135373	0.0140341	1	0	A	31012508	C	A	31012508	4	1	346	1	0	0	0	0	0	1	0	0	15434	922	32	2	786	2	STX1B	16	31012508	Nonsense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	25896686	31012508	59342245	76	65541											
MC1R	4157	broad.mit.edu	37	chr16	89986383	89986383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctttggccttaaaggCgctgtcaccctcaccatcct	7	10	9	15	1	2	0	2	0	0	0	3	0	3	0	4	3	0	2	4	3	2	2	rs34490506		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr16:89986383C>T	ENST00000555427.1	+	3	3020	c.717C>T	c.(715-717)ggC>ggT	p.G239G	RP11-566K11.4_ENST00000554623.1_RNA|MC1R_ENST00000555147.1_Silent_p.G239G|TUBB3_ENST00000556922.1_Silent_p.G239G					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCCTTAAAGGCGCTGTCACCC	0.652									Melanoma, Familial Clustering of				27	54					0	0	0	0	T	89986383	C	T	89986383	2	4	346	1	0	0	0	0	0	0	0	1	9432	755	27	1		1	MC1R	16	89986383	Silent	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	58973875	89986383	368370	77	65542											
MYBBP1A	10514	broad.mit.edu	37	chr17	4445797	4445797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggcccgtgatatgctggaCcaggatggggagcaggctct	7	7	17	10	2	1	1	0	1	1	0	1	4	1	4	2	6	2	3	2	6	1	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:4445797C>T	ENST00000254718.4	-	22	3355	c.3049G>A	c.(3049-3051)Gtc>Atc	p.V1017I	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.V1017I			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1017					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ATATGCTGGACCAGGATGGGG	0.632													22	78					0	0	0	0	T	4445797	C	T	4445797	3	4	346	1	0	0	0	0	1	0	0	0	10078	507	18	4	997	4	MYBBP1A	17	4445797	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08		4445797	76749413	78	65543											
MINK1	50488	broad.mit.edu	37	chr17	4799584	4799584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctccagtgctggcttcCatgctgtggatgtcgactcg	5	12	13	11	2	0	0	0	0	0	0	4	2	2	1	2	3	2	4	2	3	0	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:4799584C>A	ENST00000355280.6	+	29	3758	c.3562C>A	c.(3562-3564)Cat>Aat	p.H1188N	MINK1_ENST00000453408.3_Missense_Mutation_p.H1168N|MINK1_ENST00000347992.7_Missense_Mutation_p.H1159N	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1188	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TGCTGGCTTCCATGCTGTGGA	0.632											OREG0024107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	96					5.04308e-16	5.93612e-16	1	0	A	4799584	C	A	4799584	3	1	346	1	0	0	0	0	1	0	0	0	9656	594	21	4	3443	4	MINK1	17	4799584	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	353787	4799584	76395626	79	65544											
TP53	7157	broad.mit.edu	37	chr17	7578508	7578508	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacccacagctgcacagggCaggtcttggccagttggcaa	10	6	12	13	0	1	0	0	0	1	0	1	0	1	0	2	4	3	5	2	4	2	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:7578508C>A	ENST00000420246.2	-	5	554	c.422G>T	c.(421-423)tGc>tTc	p.C141F	TP53_ENST00000359597.4_Missense_Mutation_p.C141F|TP53_ENST00000269305.4_Missense_Mutation_p.C141F|TP53_ENST00000455263.2_Missense_Mutation_p.C141F|TP53_ENST00000445888.2_Missense_Mutation_p.C141F|TP53_ENST00000413465.2_Missense_Mutation_p.C141F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGCACAGGGCAGGTCTTGGC	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	38					4.72057e-08	5.28143e-08	1	0	A	7578508	C	A	7578508	3	1	346	1	0	0	0	0	1	0	0	0	16476	710	25	4	876	4	TP53	17	7578508	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	2778924	7578508	73616702	80	65545											
TP53	7157	broad.mit.edu	37	chr17	7579313	7579313	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcagggcaactgaccGtgcaagtcacagacttggct	9	7	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	2	3	3	2	2	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:7579313G>A	ENST00000420246.2	-	4	506	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125M(16)|p.0?(8)|p.T125K(6)|p.T125R(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAACTGACCGTGCAAGTCAC	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	83					0	0	0	0	A	7579313	G	A	7579313	5	1	346	1	0	0	0	0	0	0	1	0	16476	1159	40	1	928	1	TP53	17	7579313	Splice_Site	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	805	7579313	73615897	81	65546											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13400053	13400053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggacatggccgagatgcGcgcgggggcctcccgcgtga	5	6	17	13	6	0	2	0	1	0	1	1	4	1	3	3	4	1	0	3	4	0	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:13400053G>A	ENST00000284110.1	-	2	1479	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.R26C	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	228						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCCGAGATGCGCGCGGGGGCC	0.637													28	127					0	0	0	0	A	13400053	G	A	13400053	3	1	346	1	0	0	0	0	1	0	0	0	7415	1087	38	1	542	1	HS3ST3A1	17	13400053	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	5820740	13400053	67795157	82	65547											
DHRS11	79154	broad.mit.edu	37	chr17	34951506	34951506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccatgttctcagctatcCgttctcagcacagcggtgta	7	13	8	13	2	3	0	2	0	3	0	7	0	4	0	2	1	3	5	2	1	2	4	rs144559068		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:34951506C>T	ENST00000251312.5	+	2	465	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	DHRS11_ENST00000394445.1_3'UTR|DHRS11_ENST00000590554.1_Missense_Mutation_p.R6C	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	85						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						CTCAGCTATCCGTTCTCAGCA	0.537													24	78					0	0	0	0	T	34951506	C	T	34951506	3	4	346	1	0	0	0	0	1	0	0	0	4524	652	23	1	259	1	DHRS11	17	34951506	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	21551453	34951506	46243704	83	65548											
HMHA1	23526	broad.mit.edu	37	chr19	1078011	1078013	+	In_Frame_Del	DEL	GCG	GCG	-																															gccaccaagaccctggacaaGcggcggcggctggaggagga																										TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:1078011_1078013delGCG	ENST00000313093.2	+	11	1572_1574	c.1341_1343delGCG	c.(1339-1344)aag>aa	p.KR447del	HMHA1_ENST00000590577.1_In_Frame_Del_p.KR82del|HMHA1_ENST00000590214.1_In_Frame_Del_p.KR474del|HMHA1_ENST00000543365.1_In_Frame_Del_p.KR330del|HMHA1_ENST00000586866.1_In_Frame_Del_p.KR451del|HMHA1_ENST00000536472.1_In_Frame_Del_p.KR287del|HMHA1_ENST00000539243.2_In_Frame_Del_p.KR463del	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	447					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CCCTGGACAAGCGGCGGCGGCTG	0.665													2	4	---	---	---	---					-	1078013	GCG	-	1078011	7	5	346	1	0	1	0	1	0	0	0	0	7290	962	34	0	1383	0	HMHA1	19	1078011	In_Frame_Del	DEL	GCG	TCGA-CV-A6JD-01A-11D-A31L-08		1078011	58050972	84	65549											
KIAA1683	80726	broad.mit.edu	37	chr19	18368707	18368707	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagccggatcctgcgacgCgccaggtagccacggacgcc	8	3	13	17	6	0	0	0	0	0	0	1	3	1	2	5	3	3	1	5	3	1	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:18368707C>T	ENST00000392413.3	-	4	3602	c.3387G>A	c.(3385-3387)gcG>gcA	p.A1129A	KIAA1683_ENST00000600328.2_Silent_p.A942A|KIAA1683_ENST00000600359.2_Silent_p.A896A	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	1129	IQ 5.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCCTGCGACGCGCCAGGTAGC	0.672													32	81					0	0	0	0	T	18368707	C	T	18368707	2	4	346	1	0	0	0	0	0	0	0	1	8302	755	27	1		1	KIAA1683	19	18368707	Silent	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	17290696	18368707	40760276	85	65550											
PBX4	80714	broad.mit.edu	37	chr19	19680382	19680382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcctgcttgctgaaattcCgccgcttgcgcctgcaaaaa	8	10	9	14	4	0	1	0	1	0	0	2	1	1	1	4	0	4	4	4	0	3	3	rs35516996	byFrequency	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:19680382C>A	ENST00000251203.8	-	5	930	c.644G>T	c.(643-645)cGg>cTg	p.R215L		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	215							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GCTGAAATTCCGCCGCTTGCG	0.512													4	252					0.150653	0.151999	1	0	A	19680382	C	A	19680382	3	1	346	1	0	0	0	0	1	0	0	0	11566	652	23	3	496	3	PBX4	19	19680382	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	1311675	19680382	39448601	86	65551											
ZNF781	163115	broad.mit.edu	37	chr19	38160804	38160804	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtttctcactagtgtgAgttctcttatgttgaatcaa	9	17	9	6	0	3	2	2	2	2	0	5	2	3	2	0	1	0	3	0	1	5	6			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:38160804A>G	ENST00000358582.4	-	4	994	c.246T>C	c.(244-246)acT>acC	p.T82T	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Silent_p.T82T	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CACTAGTGTGAGTTCTCTTAT	0.388													30	68					0	0	0	0	G	38160804	A	G	38160804	2	3	346	1	0	0	0	0	0	0	0	1	18247	291	11	5		5	ZNF781	19	38160804	Silent	SNP	A	TCGA-CV-A6JD-01A-11D-A31L-08	18480422	38160804	20968179	87	65552											
PRR19	284338	broad.mit.edu	37	chr19	42814088	42814088	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagggcccaggaaccagccCcacggtccagggacaaagag	12	1	14	14	1	0	1	0	0	0	1	1	3	1	3	5	4	2	1	5	4	2	0			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:42814088C>G	ENST00000499536.2	+	1	1163	c.352C>G	c.(352-354)Cca>Gca	p.P118A	PRR19_ENST00000598490.1_Missense_Mutation_p.P118A|PRR19_ENST00000341747.3_Missense_Mutation_p.P118A			A6NJB7	PRR19_HUMAN	proline rich 19	118										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GGAACCAGCCCCACGGTCCAG	0.672													26	42					0	0	0	0	G	42814088	C	G	42814088	3	3	346	1	0	0	0	0	1	0	0	0	12671	623	22	4	354	4	PRR19	19	42814088	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	4653284	42814088	16314895	88	65553											
POLD1	5424	broad.mit.edu	37	chr19	50909674	50909674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccacctaggtgctgctgcGggagtacaagctccgctcct	7	8	11	15	2	0	0	0	0	0	0	2	1	2	1	4	2	5	5	4	2	3	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:50909674G>A	ENST00000440232.2	+	12	1447	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	POLD1_ENST00000595904.1_Missense_Mutation_p.R465Q|POLD1_ENST00000599857.1_Missense_Mutation_p.R465Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	465					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GTGCTGCTGCGGGAGTACAAG	0.652								DNA polymerases (catalytic subunits)					3	10					0	0	0	0	A	50909674	G	A	50909674	3	1	346	1	0	0	0	0	1	0	0	0	12262	1116	39	1	1436	1	POLD1	19	50909674	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	8095586	50909674	8219309	89	65554											
PTPRT	11122	broad.mit.edu	37	chr20	40733281	40733281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atattgtagtagagagaacgGaactcacacacagggatggc	15	7	12	7	1	1	2	1	0	0	2	1	5	1	4	0	3	2	2	0	3	5	4			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr20:40733281G>T	ENST00000373198.3	-	26	3769	c.3534C>A	c.(3532-3534)ttC>ttA	p.F1178L	PTPRT_ENST00000373201.1_Missense_Mutation_p.F1146L|PTPRT_ENST00000373193.3_Missense_Mutation_p.F1159L|PTPRT_ENST00000356100.2_Missense_Mutation_p.F1165L|PTPRT_ENST00000373184.1_Missense_Mutation_p.F1166L|PTPRT_ENST00000373187.1_Missense_Mutation_p.F1156L|PTPRT_ENST00000373190.1_Missense_Mutation_p.F1155L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1156	Tyrosine-protein phosphatase 2.				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)				AGAGAGAACGGAACTCACACA	0.507													22	50					1.55795e-14	1.81493e-14	1	0	T	40733281	G	T	40733281	3	4	346	1	0	0	0	0	1	0	0	0	12894	1165	41	2	885	2	PTPRT	20	40733281	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08		40733281	22292239	90	65555											
PREX1	57580	broad.mit.edu	37	chr20	47261018	47261018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtaggacaggaccgagtctCgattgctgttacactcgctg	8	11	12	10	3	1	0	0	0	1	0	3	4	1	2	1	2	2	4	1	2	2	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr20:47261018C>T	ENST00000396220.1	-	27	3552	c.3530G>A	c.(3529-3531)cGa>cAa	p.R1177Q	PREX1_ENST00000371941.3_Missense_Mutation_p.R1177Q			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1177					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GACCGAGTCTCGATTGCTGTT	0.587													13	27					0	0	0	0	T	47261018	C	T	47261018	3	4	346	1	0	0	0	0	1	0	0	0	12556	884	31	1	1505	1	PREX1	20	47261018	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	6527737	47261018	15764502	91	65556											
NFATC2	4773	broad.mit.edu	37	chr20	50139652	50139652	+	Frame_Shift_Del	DEL	G	G	-																															atggcaggcaccagcggcttGggccaagtgggcggaaccag																										TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr20:50139652delG	ENST00000371564.3	-	2	1347	c.1128delC	c.(1126-1128)ccfs	p.P376fs	NFATC2_ENST00000414705.1_Frame_Shift_Del_p.P356fs|NFATC2_ENST00000396009.3_Frame_Shift_Del_p.P376fs	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	376					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCAGCGGCTTGGGCCAAGTGG	0.562													55	154	---	---	---	---					-	50139652	G	-	50139652	7	5	346	1	0	1	0	1	0	0	0	0	10432	1335	47	0	1733	0	NFATC2	20	50139652	Frame_Shift_Del	DEL	G	TCGA-CV-A6JD-01A-11D-A31L-08	2878634	50139652	12885868	92	65557											
BRWD1	54014	broad.mit.edu	37	chr21	40559107	40559107	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccgcagcagaagcatttcGatggggcagttttctgctac	9	10	12	10	2	1	1	0	0	1	1	2	2	1	1	1	2	5	6	1	2	2	4			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr21:40559107G>A	ENST00000333229.2	-	42	7135	c.6808C>T	c.(6808-6810)Cga>Tga	p.R2270*		NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAAGCATTTCGATGGGGCAGT	0.338													13	23					0	0	0	0	A	40559107	G	A	40559107	4	1	346	1	0	0	0	0	0	1	0	0	1533	1066	37	1	158	1	BRWD1	21	40559107	Nonsense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08		40559107	7570788	93	65558											
GTPBP1	9567	broad.mit.edu	37	chr22	39112081	39112081	+	Frame_Shift_Del	DEL	C	C	-																															cgagtaggagacaatgacttCctggaggtcaggtgaggagg																										TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr22:39112081delC	ENST00000216044.5	+	3	707	c.474delC	c.(472-474)ttfs	p.F158fs		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	158					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					ACAATGACTTCCTGGAGGTCA	0.582													4	7	---	---	---	---					-	39112081	C	-	39112081	7	5	346	1	0	1	0	1	0	0	0	0	6928	854	30	0	484	0	GTPBP1	22	39112081	Frame_Shift_Del	DEL	C	TCGA-CV-A6JD-01A-11D-A31L-08		39112081	12192485	94	65559											
ATF4	468	broad.mit.edu	37	chr22	39918110	39918110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagagctgggcagtgaagtgGatatcactgaaggagatagg	13	8	16	4	0	1	4	1	2	0	2	1	6	1	5	0	4	1	2	0	4	5	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr22:39918110G>A	ENST00000337304.2	+	2	1441	c.559G>A	c.(559-561)Gat>Aat	p.D187N	ATF4_ENST00000404241.2_Missense_Mutation_p.D187N|ATF4_ENST00000396680.1_Missense_Mutation_p.D187N	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	187					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CAGTGAAGTGGATATCACTGA	0.502													27	32					0	0	0	0	A	39918110	G	A	39918110	3	1	346	1	0	0	0	0	1	0	0	0	1086	1174	41	2	565	2	ATF4	22	39918110	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	806029	39918110	11386456	95	65560											
EP300	2033	broad.mit.edu	37	chr22	41569760	41569760	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taacgacctctcacagaaacTatatgccaccatggagaagc	15	7	7	12	1	1	2	1	0	1	2	2	4	1	2	3	1	4	0	3	1	5	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr22:41569760T>C	ENST00000263253.7	+	29	5970	c.4751T>C	c.(4750-4752)cTa>cCa	p.L1584P	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1584	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCACAGAAACTATATGCCACC	0.468			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				69	166					0	0	0	0	C	41569760	T	C	41569760	3	2	346	1	0	0	0	0	1	0	0	0	5186	1522	53	5	4865	5	EP300	22	41569760	Missense_Mutation	SNP	T	TCGA-CV-A6JD-01A-11D-A31L-08	1651650	41569760	9734806	96	65561											
AKAP4	8852	broad.mit.edu	37	chrX	49957167	49957167	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgcccctgaaattgggctTatttgccgaggctgcttgtt	5	14	13	9	1	0	1	0	1	0	0	0	2	0	1	3	3	3	4	3	3	2	5			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:49957167T>C	ENST00000376056.2	-	5	2320	c.2170A>G	c.(2170-2172)Aag>Gag	p.K724E	AKAP4_ENST00000376064.3_Missense_Mutation_p.K724E|AKAP4_ENST00000376058.2_Missense_Mutation_p.K350E|AKAP4_ENST00000358526.2_Missense_Mutation_p.K733E|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	733					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					AAATTGGGCTTATTTGCCGAG	0.463													11	32					0	0	0	0	C	49957167	T	C	49957167	3	2	346	1	0	0	0	0	1	0	0	0	453	1763	61	5	375	5	AKAP4	23	49957167	Missense_Mutation	SNP	T	TCGA-CV-A6JD-01A-11D-A31L-08		49957167	105313393	97	65562											
KDM5C	8242	broad.mit.edu	37	chrX	53241082	53241083	+	Frame_Shift_Ins	INS	-	-	A																															aaggcttctgggggccgcttINSacactcctgaaacccaaagg																										TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:53241082_53241083insA	ENST00000452825.3	-	7	1459_1460	c.927_928insT	c.(925-930)tgagcgfs	p.*A309fs	KDM5C_ENST00000375379.3_Frame_Shift_Ins_p.*A376fs|KDM5C_ENST00000375401.3_Frame_Shift_Ins_p.*A376fs|KDM5C_ENST00000375383.3_Frame_Shift_Ins_p.*A335fs|KDM5C_ENST00000404049.3_Frame_Shift_Ins_p.*A375fs	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	376					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGGGGCCGCTTACACTCCTGAA	0.51			"N, F, S"		clear cell renal carcinoma								9	18	---	---	---	---					A	53241083	-	A	53241082	7	5	346	1	0	1	1	0	0	0	0	0	8187	1763	61	0	3723	0	KDM5C	23	53241082	Frame_Shift_Ins	INS	-	TCGA-CV-A6JD-01A-11D-A31L-08	3283915	53241082	102029478	98	65563											
TRO	7216	broad.mit.edu	37	chrX	54955077	54955077	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgggctgtgcagtaccgCgaggcagtggagatggaagt	9	7	18	7	2	0	1	0	0	0	1	0	5	0	2	1	4	2	4	1	4	2	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:54955077C>T	ENST00000173898.7	+	12	2032	c.1920C>T	c.(1918-1920)cgC>cgT	p.R640R	TRO_ENST00000420798.2_Silent_p.R171R|TRO_ENST00000375041.2_Silent_p.R243R|TRO_ENST00000399736.1_Silent_p.R243R|TRO_ENST00000375022.4_Silent_p.R640R|TRO_ENST00000319167.8_Silent_p.R640R	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	640	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGCAGTACCGCGAGGCAGTGG	0.512													10	66					0	0	0	0	T	54955077	C	T	54955077	2	4	346	1	0	0	0	0	0	0	0	1	16669	755	27	1		1	TRO	23	54955077	Silent	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	1713995	54955077	100315483	99	65564											
NONO	4841	broad.mit.edu	37	chrX	70517748	70517748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaagaagaaatgatgcGgcgacagcaggaaggattca	16	4	14	7	2	1	3	1	1	0	2	1	6	1	5	0	3	3	3	0	3	4	1			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:70517748G>A	ENST00000535149.1	+	7	1467	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	NONO_ENST00000373856.3_Missense_Mutation_p.R364Q|NONO_ENST00000373841.1_Missense_Mutation_p.R364Q|NONO_ENST00000276079.8_Missense_Mutation_p.R364Q|NONO_ENST00000490044.1_3'UTR	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	364	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GAAATGATGCGGCGACAGCAG	0.517			T	TFE3	papillary renal cancer								10	28					0	0	0	0	A	70517748	G	A	70517748	3	1	346	1	0	0	0	0	1	0	0	0	10604	1116	39	1	1117	1	NONO	23	70517748	Missense_Mutation	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	15562671	70517748	84752812	100	65565											
CSTF2	1478	broad.mit.edu	37	chrX	100087838	100087838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattacccgagcccagacctCtaatggcagaaccaagagga	14	5	9	13	1	1	3	0	0	1	3	1	5	1	4	4	2	3	1	4	2	4	2			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:100087838C>A	ENST00000415585.2	+	11	1229	c.1207C>A	c.(1207-1209)Cta>Ata	p.L403I	CSTF2_ENST00000486615.1_3'UTR|CSTF2_ENST00000372972.2_Missense_Mutation_p.L383I			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	383	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GCCCAGACCTCTAATGGCAGA	0.562													7	13					0.0293803	0.0299097	1	0	A	100087838	C	A	100087838	3	1	346	1	0	0	0	0	1	0	0	0	4016	912	32	2	1185	2	CSTF2	23	100087838	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	29570090	100087838	55182722	101	65566											
HTR2C	3358	broad.mit.edu	37	chrX	114141284	114141284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttcttcataccgctgaCgattatggtgattacgtatt	9	16	8	8	3	2	2	1	2	1	0	2	3	2	2	1	1	3	3	1	1	4	7			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:114141284C>T	ENST00000276198.1	+	6	1411	c.683C>T	c.(682-684)aCg>aTg	p.T228M	HTR2C_ENST00000371950.3_Silent_p.D196D|HTR2C_ENST00000371951.1_Missense_Mutation_p.T228M	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	228					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ATACCGCTGACGATTATGGTG	0.502													123	290					0	0	0	0	T	114141284	C	T	114141284	3	4	346	1	0	0	0	0	1	0	0	0	7496	536	19	1	697	1	HTR2C	23	114141284	Missense_Mutation	SNP	C	TCGA-CV-A6JD-01A-11D-A31L-08	14053446	114141284	41129276	102	65567											
FATE1	89885	broad.mit.edu	37	chrX	150889866	150889866	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgaccattcctttcttcaGgggtcccagctgccaaagcc	8	10	8	15	0	2	1	1	1	1	0	4	1	4	1	5	2	3	1	5	2	1	3			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:150889866G>A	ENST00000370350.3	+	3	319		c.e3-1			NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1							endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTCTTCAGGGGTCCCAGC	0.542													16	42					0	0	0	0	A	150889866	G	A	150889866	5	1	346	1	0	0	0	0	0	0	1	0	5738	1014	35	4	244	4	FATE1	23	150889866	Splice_Site	SNP	G	TCGA-CV-A6JD-01A-11D-A31L-08	36748582	150889866	4380694	103	65568											
SLC2A5	6518	broad.mit.edu	37	chr1	9097783	9097783	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgggacaatcaagaaGatgtagatggtggtgaggag	12	8	16	5	1	2	4	1	1	1	3	3	6	2	6	1	4	0	1	1	4	4	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:9097783G>T	ENST00000377424.4	-	12	1547	c.1368C>A	c.(1366-1368)atC>atA	p.I456I	SLC2A5_ENST00000535586.1_Silent_p.I341I|SLC2A5_ENST00000536305.1_Silent_p.I397I	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	456					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CAATCAAGAAGATGTAGATGG	0.542													33	79					3.03874e-20	3.33163e-20	1	0	T	9097783	G	T	9097783	2	4	347	1	0	0	0	0	0	0	0	1	14636	932	33	2		2	SLC2A5	1	9097783	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08		9097783	240152838	1	65569											
PRDM2	7799	broad.mit.edu	37	chr1	14105784	14105784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttggaactcatactaatatGagacggcatcagcgtagagt	13	11	10	7	2	2	2	2	1	0	2	2	4	2	3	0	2	3	2	0	2	5	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:14105784G>C	ENST00000235372.7	+	8	2350	c.1494G>C	c.(1492-1494)atG>atC	p.M498I	PRDM2_ENST00000311066.5_Missense_Mutation_p.M498I|PRDM2_ENST00000343137.4_Missense_Mutation_p.M297I|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.M297I	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	498						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ATACTAATATGAGACGGCATC	0.448													15	34					0	0	0	0	C	14105784	G	C	14105784	3	2	347	1	0	0	0	0	1	0	0	0	12538	1290	45	2	1520	2	PRDM2	1	14105784	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	5008001	14105784	235144837	2	65570											
ARID1A	8289	broad.mit.edu	37	chr1	27099395	27099395	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgactccaaaccctgggtAtcagcccagtatgaatacct	12	9	7	13	0	1	2	1	2	0	0	2	2	2	2	4	1	3	2	4	1	5	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:27099395A>G	ENST00000324856.7	+	14	4003	c.3632A>G	c.(3631-3633)tAt>tGt	p.Y1211C	ARID1A_ENST00000374152.2_Missense_Mutation_p.Y828C|ARID1A_ENST00000457599.2_Missense_Mutation_p.Y1211C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1211					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACCCTGGGTATCAGCCCAGT	0.488			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								12	34					0	0	0	0	G	27099395	A	G	27099395	3	3	347	1	0	0	0	0	1	0	0	0	915	449	16	5	3686	5	ARID1A	1	27099395	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08	12993611	27099395	222151226	3	65571											
YTHDF2	51441	broad.mit.edu	37	chr1	29069499	29069499	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctccaaaaccagcatcttgGgctgatattgctagcaagcc	11	9	8	13	0	1	1	0	1	1	0	2	1	2	1	4	1	5	4	4	1	5	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:29069499G>A	ENST00000373812.3	+	4	1079	c.717G>A	c.(715-717)tgG>tgA	p.W239*	YTHDF2_ENST00000542507.1_Nonsense_Mutation_p.W239*|YTHDF2_ENST00000541996.1_Nonsense_Mutation_p.W189*|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	239					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCATCTTGGGCTGATATTG	0.488													51	103					0	0	0	0	A	29069499	G	A	29069499	4	1	347	1	0	0	0	0	0	1	0	0	17595	1241	43	4	731	4	YTHDF2	1	29069499	Nonsense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	1970104	29069499	220181122	4	65572											
YTHDF2	51441	broad.mit.edu	37	chr1	29069845	29069845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacccgctgggtagcacctCggaaccgtggcagtgggttc	7	7	14	13	3	0	0	0	0	0	0	2	1	0	1	3	4	3	5	3	4	3	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:29069845C>T	ENST00000373812.3	+	4	1425	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	YTHDF2_ENST00000542507.1_Missense_Mutation_p.R355W|YTHDF2_ENST00000541996.1_Missense_Mutation_p.R305W|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	355					humoral immune response			p.R355W(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GGTAGCACCTCGGAACCGTGG	0.582													41	103					0	0	0	0	T	29069845	C	T	29069845	3	4	347	1	0	0	0	0	1	0	0	0	17595	875	31	1	1077	1	YTHDF2	1	29069845	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	346	29069845	220180776	5	65573											
ZBTB8A	653121	broad.mit.edu	37	chr1	33059037	33059037	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgttctcacctaagcccaGagcaaggaacaggtataata	15	7	8	11	1	1	1	1	0	1	1	2	2	1	2	2	2	3	3	2	2	6	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:33059037G>C	ENST00000373510.4	+	3	734	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.E169Q|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						CCTAAGCCCAGAGCAAGGAAC	0.428													22	55					0	0	0	0	C	33059037	G	C	33059037	3	2	347	1	0	0	0	0	1	0	0	0	17651	943	33	2	507	2	ZBTB8A	1	33059037	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	3989192	33059037	216191584	6	65574											
MAST2	23139	broad.mit.edu	37	chr1	46487694	46487694	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaagagggacaagggattAaatgtgacattccccgctac	14	7	10	10	1	0	2	0	1	0	1	1	4	1	4	3	2	1	1	3	2	5	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:46487694A>C	ENST00000361297.2	+	12	1646	c.1363A>C	c.(1363-1365)Aaa>Caa	p.K455Q	MAST2_ENST00000372008.1_Missense_Mutation_p.K340Q|MAST2_ENST00000372009.2_Missense_Mutation_p.K385Q	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	455					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACAAGGGATTAAATGTGACAT	0.552													77	258					0	0	0	0	C	46487694	A	C	46487694	3	2	347	1	0	0	0	0	1	0	0	0	9394	363	13	5	1409	5	MAST2	1	46487694	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08	13428657	46487694	202762927	7	65575											
ACOT11	26027	broad.mit.edu	37	chr1	55062944	55062944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtcagatctggagagcaGagactgtagccgcatggtgc	9	8	15	9	1	2	3	1	0	1	3	2	5	2	3	1	3	3	3	1	3	1	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:55062944G>C	ENST00000371316.3	+	7	702	c.620G>C	c.(619-621)aGa>aCa	p.R207T	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.R207T	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	207	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CTGGAGAGCAGAGACTGTAGC	0.642													42	46					0	0	0	0	C	55062944	G	C	55062944	3	2	347	1	0	0	0	0	1	0	0	0	149	942	33	2	646	2	ACOT11	1	55062944	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	8575250	55062944	194187677	8	65576											
C1orf87	127795	broad.mit.edu	37	chr1	60456431	60456431	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaggcctggtcgattttctGagggctcagggacaggttgt	7	11	15	8	1	2	1	1	1	1	0	3	3	2	2	1	5	0	2	1	5	1	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:60456431G>C	ENST00000371201.3	-	12	1662	c.1555C>G	c.(1555-1557)Cag>Gag	p.Q519E	C1orf87_ENST00000395552.1_Missense_Mutation_p.Q153E|C1orf87_ENST00000450089.2_Missense_Mutation_p.Q290E|C1orf87_ENST00000486478.1_5'UTR	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	519							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCGATTTTCTGAGGGCTCAGG	0.493													49	355					0	0	0	0	C	60456431	G	C	60456431	3	2	347	1	0	0	0	0	1	0	0	0	2084	1299	45	2	89	2	C1orf87	1	60456431	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	5393487	60456431	188794190	9	65577											
ZNF326	284695	broad.mit.edu	37	chr1	90484319	90484319	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaaacagaagtagttaaaAtaattgaaaaagatgttatg	21	11	7	2	0	1	3	1	1	0	2	1	3	1	3	0	0	1	3	0	0	9	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:90484319A>G	ENST00000340281.4	+	9	1293	c.1150A>G	c.(1150-1152)Ata>Gta	p.I384V	ZNF326_ENST00000455342.2_Missense_Mutation_p.I178V|ZNF326_ENST00000370447.2_Missense_Mutation_p.I295V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AGTAGTTAAAATAATTGAAAA	0.229													13	26					0	0	0	0	G	90484319	A	G	90484319	3	3	347	1	0	0	0	0	1	0	0	0	17941	101	4	5	1188	5	ZNF326	1	90484319	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08	30027888	90484319	158766302	10	65578											
ARNT	405	broad.mit.edu	37	chr1	150785759	150785759	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccactgtggccagacaccCacaccctctgctgtccgtgt	6	9	9	17	1	1	1	0	0	1	1	2	1	2	1	5	1	2	1	5	1	0	0			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:150785759C>T	ENST00000358595.5	-	21	2369	c.2169G>A	c.(2167-2169)gtG>gtA	p.V723V	ARNT_ENST00000354396.2_Silent_p.V721V|ARNT_ENST00000515192.1_Silent_p.V709V|ARNT_ENST00000505755.1_Silent_p.V708V	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	723	Gln-rich.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCAGACACCCACACCCTCTG	0.522			T	ETV6	AML						OREG0013788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	93					0	0	0	0	T	150785759	C	T	150785759	2	4	347	1	0	0	0	0	0	0	0	1	969	581	21	4		4	ARNT	1	150785759	Silent	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	60301440	150785759	98464862	11	65579											
OLFML2B	25903	broad.mit.edu	37	chr1	161953740	161953740	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcgccatgtggtctcctTctgtgtgctcaggtccgcgg	2	12	14	13	4	3	0	1	0	2	0	5	0	4	0	3	3	2	1	3	3	0	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:161953740T>C	ENST00000294794.3	-	8	2401	c.1978A>G	c.(1978-1980)Aag>Gag	p.K660E	OLFML2B_ENST00000367938.1_Missense_Mutation_p.K143E|OLFML2B_ENST00000367940.2_Missense_Mutation_p.K661E	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	660	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGGTCTCCTTCTGTGTGCTC	0.587													14	61					0	0	0	0	C	161953740	T	C	161953740	3	2	347	1	0	0	0	0	1	0	0	0	10929	1792	62	5	278	5	OLFML2B	1	161953740	Missense_Mutation	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	11167981	161953740	87296881	12	65580											
LMOD1	25802	broad.mit.edu	37	chr1	201869122	201869122	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcatttgtgatgcagtctGagttgttgacgttcacctca	7	16	9	9	1	4	3	3	3	2	0	5	3	4	3	1	0	1	4	1	0	0	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:201869122G>C	ENST00000367288.4	-	2	1265	c.1019C>G	c.(1018-1020)tCa>tGa	p.S340*		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	340					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GATGCAGTCTGAGTTGTTGAC	0.527													9	25					0	0	0	0	C	201869122	G	C	201869122	4	2	347	1	0	0	0	0	0	1	0	0	8911	1294	45	2	791	2	LMOD1	1	201869122	Nonsense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	39915382	201869122	47381499	13	65581											
CR1L	1379	broad.mit.edu	37	chr1	207857216	207857216	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccttattttttgcctctaGataccgactcattggttcct	6	19	5	11	1	2	1	1	0	1	1	4	2	4	1	4	1	2	1	4	1	3	9			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:207857216G>C	ENST00000508064.2	+	4	437		c.e4-1		CR1L_ENST00000530905.1_Splice_Site	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like							cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTGCCTCTAGATACCGACTC	0.378													12	22					0	0	0	0	C	207857216	G	C	207857216	5	2	347	1	0	0	0	0	0	0	1	0	3871	956	33	2	391	2	CR1L	1	207857216	Splice_Site	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	5988094	207857216	41393405	14	65582											
PPP2R5A	5525	broad.mit.edu	37	chr1	212530321	212530321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaggagaaattgaagaaatCttagatgtcattgaaccaac	17	11	8	5	0	2	5	1	2	1	3	2	6	2	5	1	1	2	0	1	1	7	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:212530321C>T	ENST00000261461.2	+	10	1582	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	PPP2R5A_ENST00000537030.3_Silent_p.I279I	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	336					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TTGAAGAAATCTTAGATGTCA	0.289													5	18					0	0	0	0	T	212530321	C	T	212530321	2	4	347	1	0	0	0	0	0	0	0	1	12468	903	32	2		2	PPP2R5A	1	212530321	Silent	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	4673105	212530321	36720300	15	65583											
LIN9	286826	broad.mit.edu	37	chr1	226485424	226485424	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactcactccttaccattTccacagcagagcttgtattc	12	12	4	13	0	1	1	1	0	0	1	4	1	3	1	3	0	4	3	3	0	4	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:226485424T>G	ENST00000328205.5	-	3	748	c.203A>C	c.(202-204)gAa>gCa	p.E68A	LIN9_ENST00000366801.1_Missense_Mutation_p.E52A|LIN9_ENST00000481685.1_Missense_Mutation_p.E68A	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	52	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CCTTACCATTTCCACAGCAGA	0.333													21	87					0	0	0	0	G	226485424	T	G	226485424	3	3	347	1	0	0	0	0	1	0	0	0	8868	1783	62	5	1525	5	LIN9	1	226485424	Missense_Mutation	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	13955103	226485424	22765197	16	65584											
NUP133	55746	broad.mit.edu	37	chr1	229606349	229606349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaaaaagacatctgcaGgagtcaggttggatgggatt	12	9	13	7	0	2	2	1	1	1	1	2	5	2	5	1	4	1	2	1	4	2	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:229606349G>A	ENST00000261396.3	-	15	2145	c.2054C>T	c.(2053-2055)cCt>cTt	p.P685L	NUP133_ENST00000366679.1_Missense_Mutation_p.P685L|NUP133_ENST00000537506.1_Missense_Mutation_p.P669L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	685					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GACATCTGCAGGAGTCAGGTT	0.468													28	62					0	0	0	0	A	229606349	G	A	229606349	3	1	347	1	0	0	0	0	1	0	0	0	10825	1000	35	4	1464	4	NUP133	1	229606349	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	3120925	229606349	19644272	17	65585											
LGALS8	3964	broad.mit.edu	37	chr1	236706280	236706280	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctacaccaagagcaaagaTtcgactgtcaatcacacttt	14	10	6	11	1	3	2	2	0	1	2	4	3	3	2	1	0	2	1	1	0	4	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr1:236706280T>G	ENST00000526589.1	+	11	1135	c.615T>G	c.(613-615)gaT>gaG	p.D205E	LGALS8_ENST00000450372.2_Missense_Mutation_p.D205E|LGALS8_ENST00000366584.4_Intron|LGALS8_ENST00000352231.2_Missense_Mutation_p.D205E|LGALS8_ENST00000341872.6_Intron|LGALS8_ENST00000525042.1_Missense_Mutation_p.D146E|LGALS8_ENST00000416919.2_Missense_Mutation_p.D146E|LGALS8_ENST00000323938.6_Intron|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000527974.1_Missense_Mutation_p.D205E|LGALS8_ENST00000526634.1_Intron			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	183	Galectin 2.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGAGCAAAGATTCGACTGTCA	0.378													11	65					0	0	0	0	G	236706280	T	G	236706280	3	3	347	1	0	0	0	0	1	0	0	0	8801	1490	52	5	641	5	LGALS8	1	236706280	Missense_Mutation	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	7099931	236706280	12544341	18	65586											
DNMT3A	1788	broad.mit.edu	37	chr2	25457210	25457210	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggatgactggcacgctccAtgaccggcccagcagtctct	7	7	12	15	3	1	2	0	2	1	0	3	3	2	3	3	3	1	3	3	3	0	0			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:25457210A>G	ENST00000264709.3	-	23	3014	c.2677T>C	c.(2677-2679)Tgg>Cgg	p.W893R	DNMT3A_ENST00000321117.5_Missense_Mutation_p.W893R|DNMT3A_ENST00000402667.1_Missense_Mutation_p.W670R|DNMT3A_ENST00000380746.4_Missense_Mutation_p.W704R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	893					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.W893R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCACGCTCCATGACCGGCCC	0.557			"Mis, F, N, S"		AML								25	31					0	0	0	0	G	25457210	A	G	25457210	3	3	347	1	0	0	0	0	1	0	0	0	4712	217	8	5	65	5	DNMT3A	2	25457210	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08		25457210	217742163	19	65587											
EIF2B4	8890	broad.mit.edu	37	chr2	27592363	27592363	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtttcttcttctgctgtttCttttccttccgaagctgcag	3	19	7	12	2	4	0	0	0	4	0	6	1	6	0	2	0	3	5	2	0	1	7			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:27592363C>G	ENST00000493344.2	-	2	504	c.192G>C	c.(190-192)aaG>aaC	p.K64N	EIF2B4_ENST00000347454.4_Missense_Mutation_p.K43N|EIF2B4_ENST00000451130.2_Missense_Mutation_p.K64N|EIF2B4_ENST00000445933.2_Missense_Mutation_p.K43N			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	43					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	p.K64N(1)|p.K43N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCTGTTTCTTTTCCTTCC	0.498													12	78					0	0	0	0	G	27592363	C	G	27592363	3	3	347	1	0	0	0	0	1	0	0	0	5039	912	32	2	1486	2	EIF2B4	2	27592363	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	2135153	27592363	215607010	20	65588											
DHX57	90957	broad.mit.edu	37	chr2	39090566	39090566	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagctttcactttctcttgaTtctcagaagtcatatgtaga	10	16	7	8	0	4	3	3	1	2	2	6	4	4	3	0	0	1	2	0	0	3	6			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:39090566T>A	ENST00000295373.6	-	3	446	c.320A>T	c.(319-321)aAt>aTt	p.N107I	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	107							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTTCTCTTGATTCTCAGAAGT	0.393													44	52					0	0	0	0	A	39090566	T	A	39090566	3	1	347	1	0	0	0	0	1	0	0	0	4550	1493	52	5	3928	5	DHX57	2	39090566	Missense_Mutation	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	11498203	39090566	204108807	21	65589											
AAK1	22848	broad.mit.edu	37	chr2	69759275	69759275	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatagtggcctcggtcaTgcaagaggatgttttcaacc	10	10	12	9	1	2	1	2	0	0	1	3	3	2	3	2	4	2	2	2	4	3	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:69759275T>A	ENST00000409085.4	-	6	930	c.554A>T	c.(553-555)cAt>cTt	p.H185L	AAK1_ENST00000409068.1_Missense_Mutation_p.H185L|AAK1_ENST00000406297.3_Missense_Mutation_p.H185L|AAK1_ENST00000470281.1_5'UTR	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	185	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GCCTCGGTCATGCAAGAGGAT	0.418													7	51					0	0	0	0	A	69759275	T	A	69759275	3	1	347	1	0	0	0	0	1	0	0	0	16	1464	51	5	2399	5	AAK1	2	69759275	Missense_Mutation	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	30668709	69759275	173440098	22	65590											
LCT	3938	broad.mit.edu	37	chr2	136570329	136570329	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtagtctccatccacaaaGacggggtgtgcaaaccagcc	11	6	12	12	1	1	1	0	0	1	1	3	1	2	1	4	3	3	2	4	3	3	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:136570329G>A	ENST00000264162.2	-	7	1915	c.1905C>T	c.(1903-1905)gtC>gtT	p.V635V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	635	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATCCACAAAGACGGGGTGTG	0.582													12	93					0	0	0	0	A	136570329	G	A	136570329	2	1	347	1	0	0	0	0	0	0	0	1	8746	929	33	2		2	LCT	2	136570329	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	66811054	136570329	106629044	23	65591											
LRP1B	53353	broad.mit.edu	37	chr2	141762944	141762944	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatccaaaagttgattatcGgcacaagcacacacccggcc	13	7	7	14	2	1	1	1	1	0	0	3	1	2	1	3	2	1	3	3	2	4	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:141762944G>A	ENST00000389484.3	-	15	3434	c.2463C>T	c.(2461-2463)gcC>gcT	p.A821A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	821	EGF-like 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTGATTATCGGCACAAGCAC	0.443										TSP Lung(27;0.18)			12	33					0	0	0	0	A	141762944	G	A	141762944	2	1	347	1	0	0	0	0	0	0	0	1	9019	1103	39	1		1	LRP1B	2	141762944	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	5192615	141762944	101436429	24	65592											
ANKRD44	91526	broad.mit.edu	37	chr2	197863748	197863748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcaagcactccacatgatCagcaaatgctgccgcatgaa	13	7	8	13	1	1	2	1	2	0	0	2	2	2	2	2	0	5	5	2	0	3	0			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr2:197863748C>T	ENST00000328737.2	-	24	2549	c.2473G>A	c.(2473-2475)Gat>Aat	p.D825N	ANKRD44_ENST00000337207.5_Missense_Mutation_p.D825N|ANKRD44_ENST00000450567.1_Missense_Mutation_p.D825N|ANKRD44_ENST00000282272.8_Missense_Mutation_p.D842N			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	850							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCCACATGATCAGCAAATGCT	0.433													19	16					0	0	0	0	T	197863748	C	T	197863748	3	4	347	1	0	0	0	0	1	0	0	0	671	826	29	2	298	2	ANKRD44	2	197863748	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	56100804	197863748	45335625	25	65593											
KAT2B	8850	broad.mit.edu	37	chr3	20142948	20142948	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatatttctggatacaaagAgaactacacaaggtaatcag	17	10	8	6	0	2	2	1	1	1	1	2	4	2	3	0	2	3	1	0	2	7	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:20142948A>T	ENST00000263754.4	+	5	1294	c.839A>T	c.(838-840)gAg>gTg	p.E280V		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	280					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GGATACAAAGAGAACTACACA	0.418													22	33					0	0	0	0	T	20142948	A	T	20142948	3	4	347	1	0	0	0	0	1	0	0	0	8035	304	11	5	857	5	KAT2B	3	20142948	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08		20142948	177879482	26	65594											
SCN11A	11280	broad.mit.edu	37	chr3	38950665	38950665	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagaagaagactgagtaGagcccagtagtacgcagggt	15	6	14	6	1	0	6	0	2	0	4	0	6	0	6	1	1	2	4	1	1	6	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:38950665G>A	ENST00000302328.3	-	9	1320	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	SCN11A_ENST00000456224.3_Silent_p.L374L|SCN11A_ENST00000444237.2_Silent_p.L374L|SCN11A_ENST00000450244.1_Silent_p.L374L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	374					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGACTGAGTAGAGCCCAGTAG	0.458													4	67					0	0	0	0	A	38950665	G	A	38950665	2	1	347	1	0	0	0	0	0	0	0	1	14000	929	33	2		2	SCN11A	3	38950665	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	18807717	38950665	159071765	27	65595											
IMPG2	50939	broad.mit.edu	37	chr3	100962873	100962873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacaaagtttgcatatctgGctttaccattgaaacctcac	12	12	5	12	0	2	1	1	1	1	0	2	1	2	1	3	1	3	3	3	1	4	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:100962873G>A	ENST00000193391.7	-	13	2489	c.2302C>T	c.(2302-2304)Cca>Tca	p.P768S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	768					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGCATATCTGGCTTTACCATT	0.403													31	51					0	0	0	0	A	100962873	G	A	100962873	3	1	347	1	0	0	0	0	1	0	0	0	7782	1203	42	4	1451	4	IMPG2	3	100962873	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	62012208	100962873	97059557	28	65596											
ECT2	1894	broad.mit.edu	37	chr3	172473109	172473109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcctcagattgaaacaaGagtgatattggttcaagaag	15	10	11	5	0	2	5	2	2	0	3	2	6	2	5	1	1	2	1	1	1	5	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:172473109G>A	ENST00000417960.1	+	4	629	c.152G>A	c.(151-153)aGa>aAa	p.R51K	ECT2_ENST00000392692.3_Missense_Mutation_p.R52K|ECT2_ENST00000232458.5_Missense_Mutation_p.R52K|ECT2_ENST00000427830.1_Missense_Mutation_p.R52K|ECT2_ENST00000441497.2_Missense_Mutation_p.R52K|ECT2_ENST00000540509.1_Missense_Mutation_p.R52K	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	52					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATTGAAACAAGAGTGATATTG	0.318													10	42					0	0	0	0	A	172473109	G	A	172473109	3	1	347	1	0	0	0	0	1	0	0	0	4937	942	33	2	161	2	ECT2	3	172473109	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	71510236	172473109	25549321	29	65597											
ZDHHC19	131540	broad.mit.edu	37	chr3	195936327	195936327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttggacaccattgcaggcGgaaggccccgtggttcaccc	7	8	12	14	2	1	0	1	0	0	0	1	2	1	2	4	5	1	2	4	5	1	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:195936327G>A	ENST00000296326.3	-	3	407	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	110						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CATTGCAGGCGGAAGGCCCCG	0.652													5	21					0	0	0	0	A	195936327	G	A	195936327	3	1	347	1	0	0	0	0	1	0	0	0	17704	1116	39	1	621	1	ZDHHC19	3	195936327	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	23463218	195936327	2086103	30	65598											
LRCH3	84859	broad.mit.edu	37	chr3	197562650	197562650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacccagacagccttagttCacagtttatggcgtatattg	11	12	9	9	1	1	2	1	0	0	2	1	2	1	2	2	1	1	3	2	1	4	7			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr3:197562650C>T	ENST00000438796.2	+	9	1252	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L	LRCH3_ENST00000425562.2_Missense_Mutation_p.S403L|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000334859.4_Missense_Mutation_p.S403L|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000441090.2_Intron			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	403						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGCCTTAGTTCACAGTTTATG	0.458													34	58					0	0	0	0	T	197562650	C	T	197562650	3	4	347	1	0	0	0	0	1	0	0	0	8998	838	29	2	1242	2	LRCH3	3	197562650	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	1626323	197562650	459780	31	65599											
ZNF718	255403	broad.mit.edu	37	chr4	155275	155275	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggtaaagcttttaaccaatCctcaacccttaatttacata	14	14	3	10	0	1	0	1	0	0	0	2	0	2	0	3	1	4	2	3	1	8	7			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:155275C>G	ENST00000510175.1	+	0	710							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TTTAACCAATCCTCAACCCTT	0.353													12	30					0	0	0	0	G	155275	C	G	155275	1	3	347	0	1	0	0	0	0	0	0	0	18215	855	30	2		2	ZNF718	4	155275	RNA	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08		155275	190999001	32	65600											
POLN	353497	broad.mit.edu	37	chr4	2209864	2209864	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttttcaatgctcctgagttCccagaatttaggtagccttc	8	16	7	10	0	1	2	1	1	0	1	4	2	3	2	3	1	2	3	3	1	4	7			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:2209864C>T	ENST00000511885.2	-	5	917	c.564G>A	c.(562-564)ggG>ggA	p.G188G	POLN_ENST00000382865.1_Silent_p.G188G|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	188					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTCCTGAGTTCCCAGAATTTA	0.378								DNA polymerases (catalytic subunits)					10	37					0	0	0	0	T	2209864	C	T	2209864	2	4	347	1	0	0	0	0	0	0	0	1	12279	842	30	2		2	POLN	4	2209864	Silent	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	2054589	2209864	188944412	33	65601											
RGS12	6002	broad.mit.edu	37	chr4	3415846	3415846	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcagcaacaacagcctgAgcagcaatgccagcctcccc	11	4	9	17	1	1	1	1	1	0	0	2	1	2	1	5	0	8	3	5	0	3	0			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:3415846A>G	ENST00000336727.3	+	5	2972	c.2068A>G	c.(2068-2070)Agc>Ggc	p.S690G	RGS12_ENST00000306648.7_Missense_Mutation_p.S88G|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.S690G|RGS12_ENST00000344733.5_Missense_Mutation_p.S690G|RGS12_ENST00000338806.4_Missense_Mutation_p.S42G|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000538395.1_Missense_Mutation_p.S32G	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	690						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAACAGCCTGAGCAGCAATGC	0.697													3	5					0	0	0	0	G	3415846	A	G	3415846	3	3	347	1	0	0	0	0	1	0	0	0	13378	304	11	5	2140	5	RGS12	4	3415846	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08	1205982	3415846	187738430	34	65602											
GPR125	166647	broad.mit.edu	37	chr4	22390433	22390433	+	Missense_Mutation	SNP	T	T	A																															tctgttgctcctccgtgggcTccttaagctcatatttgcgc																										TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:22390433T>A	ENST00000334304.5	-	19	3130	c.2861A>T	c.(2860-2862)gAg>gTg	p.E954V	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	954					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTCCGTGGGCTCCTTAAGCTC	0.423													10	67					0	0	0	0	A	22390433	T	A	22390433	3	1	347	1	0	0	0	0	1	0	0	0	6688	1551	54	5	1108	5	GPR125	4	22390433	Missense_Mutation	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	18974587	22390433	168763843	35	65603	814	2									
GPR125	166647	broad.mit.edu	37	chr4	22390434	22390434	+	Missense_Mutation	SNP	C	C	T																															ctgttgctcctccgtgggctCcttaagctcatatttgcgct																										TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:22390434C>T	ENST00000334304.5	-	19	3129	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	954					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCCGTGGGCTCCTTAAGCTCA	0.428													10	66					0	0	0	0	T	22390434	C	T	22390434	3	4	347	1	0	0	0	0	1	0	0	0	6688	864	30	2	1109	2	GPR125	4	22390434	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	1	22390434	168763842	36	65604	814	2									
GBA3	57733	broad.mit.edu	37	chr4	22694613	22694613	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgcttctggcagctgaaGatcccagtagacagcttctt	8	12	9	12	0	3	3	0	1	3	2	4	3	4	3	1	1	3	5	1	1	2	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:22694613G>A	ENST00000508166.1	+	0	77				GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						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						GGCAGCTGAAGATCCCAGTAG	0.507													4	15					0	0	0	0	A	22694613	G	A	22694613	1	1	347	0	1	0	0	0	0	0	0	0	6317	957	33	2		2	GBA3	4	22694613	RNA	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	304179	22694613	168459663	37	65605											
SEC24B	10427	broad.mit.edu	37	chr4	110448567	110448567	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggatgtacaagctgccAtctgccttctggcaaacatg	10	10	11	10	0	2	0	0	0	2	0	2	2	2	1	2	2	5	3	2	2	3	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:110448567A>G	ENST00000265175.5	+	18	3110	c.3055A>G	c.(3055-3057)Atc>Gtc	p.I1019V	SEC24B_ENST00000504968.2_Missense_Mutation_p.I1049V|SEC24B_ENST00000399100.2_Missense_Mutation_p.I984V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1019					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACAAGCTGCCATCTGCCTTCT	0.418													21	26					0	0	0	0	G	110448567	A	G	110448567	3	3	347	1	0	0	0	0	1	0	0	0	14082	217	8	5	3125	5	SEC24B	4	110448567	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08	87753954	110448567	80705709	38	65606											
FAT1	2195	broad.mit.edu	37	chr4	187538223	187538223	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcaactatcgcttttgatGagaaggtgccatcagttgcc	9	13	9	10	1	2	2	2	2	0	1	3	3	2	2	2	1	3	2	2	1	3	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr4:187538223G>C	ENST00000441802.2	-	11	9220	c.9011C>G	c.(9010-9012)tCa>tGa	p.S3004*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3004	Cadherin 27.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGCTTTTGATGAGAAGGTGCC	0.393										HNSCC(5;0.00058)			19	42					0	0	0	0	C	187538223	G	C	187538223	4	2	347	1	0	0	0	0	0	1	0	0	5734	1294	45	2	4823	2	FAT1	4	187538223	Nonsense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	77089656	187538223	3616053	39	65607											
CEP72	55722	broad.mit.edu	37	chr5	639244	639244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctacccgggaagaagaCggccctgcaggcggcgctcc	7	4	15	15	4	1	2	0	0	1	2	2	3	2	3	3	5	2	3	3	5	3	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:639244C>T	ENST00000264935.5	+	8	1337	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	416					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GGGAAGAAGACGGCCCTGCAG	0.632													17	132					0	0	0	0	T	639244	C	T	639244	3	4	347	1	0	0	0	0	1	0	0	0	3289	536	19	1	1277	1	CEP72	5	639244	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08		639244	180276016	40	65608											
NLN	57486	broad.mit.edu	37	chr5	65077118	65077118	+	Nonsense_Mutation	SNP	T	T	A																															tgatgatttcattgacagttTagaaaagacagatgatgaca																										TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:65077118T>A	ENST00000380985.5	+	6	870	c.692T>A	c.(691-693)tTa>tAa	p.L231*	NLN_ENST00000502464.1_Nonsense_Mutation_p.L127*	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	231					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ATTGACAGTTTAGAAAAGACA	0.338													14	9					0	0	0	0	A	65077118	T	A	65077118	4	1	347	1	0	0	0	0	0	1	0	0	10537	1764	61	5	714	5	NLN	5	65077118	Nonsense_Mutation	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	64437874	65077118	115838142	41	65609	815	3									
NLN	57486	broad.mit.edu	37	chr5	65077119	65077119	+	Missense_Mutation	SNP	A	A	T																															gatgatttcattgacagtttAgaaaagacagatgatgacaa																										TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:65077119A>T	ENST00000380985.5	+	6	871	c.693A>T	c.(691-693)ttA>ttT	p.L231F	NLN_ENST00000502464.1_Missense_Mutation_p.L127F	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	231					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TTGACAGTTTAGAAAAGACAG	0.338													14	9					0	0	0	0	T	65077119	A	T	65077119	3	4	347	1	0	0	0	0	1	0	0	0	10537	417	15	5	715	5	NLN	5	65077119	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08	1	65077119	115838141	42	65610	815	3									
NLN	57486	broad.mit.edu	37	chr5	65077120	65077120	+	Missense_Mutation	SNP	G	G	A																															atgatttcattgacagtttaGaaaagacagatgatgacaag																										TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:65077120G>A	ENST00000380985.5	+	6	872	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	NLN_ENST00000502464.1_Missense_Mutation_p.E128K	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	232					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGACAGTTTAGAAAAGACAGA	0.338													14	9					0	0	0	0	A	65077120	G	A	65077120	3	1	347	1	0	0	0	0	1	0	0	0	10537	943	33	2	716	2	NLN	5	65077120	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	1	65077120	115838140	43	65611	815	3									
ERAP2	64167	broad.mit.edu	37	chr5	96244818	96244818	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagatatctctgaaaacctCaaggtttgtgttgcttttag	10	16	8	7	0	3	2	2	1	1	1	4	2	3	2	1	1	2	3	1	1	5	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:96244818C>G	ENST00000437043.3	+	14	2877	c.2166C>G	c.(2164-2166)ctC>ctG	p.L722L	ERAP2_ENST00000379904.4_Silent_p.L677L|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	722					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.L722L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CTGAAAACCTCAAGGTTTGTG	0.388													21	21					0	0	0	0	G	96244818	C	G	96244818	2	3	347	1	0	0	0	0	0	0	0	1	5242	813	29	2		2	ERAP2	5	96244818	Silent	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	31167698	96244818	84670442	44	65612											
TMCO6	55374	broad.mit.edu	37	chr5	140021368	140021368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcaaaccttcatccggtCagtgtggatggtgtggtgga	9	10	14	8	1	2	0	2	0	0	0	3	2	3	2	2	5	2	1	2	5	1	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:140021368C>T	ENST00000511410.1	+	3	392	c.317C>T	c.(316-318)tCa>tTa	p.S106L	TMCO6_ENST00000252100.6_Intron|TMCO6_ENST00000537378.1_Intron|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000394671.3_Intron			Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	0					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCATCCGGTCAGTGTGGATG	0.597													17	25					0	0	0	0	T	140021368	C	T	140021368	3	4	347	1	0	0	0	0	1	0	0	0	16094	841	29	2		2	TMCO6	5	140021368	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	43776550	140021368	40893892	45	65613											
EBF1	1879	broad.mit.edu	37	chr5	158141128	158141128	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacccacagcgctcacctgGttgttgtgtggcatcccata	8	10	9	14	1	1	0	1	0	0	0	2	0	2	0	3	2	1	4	3	2	1	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr5:158141128G>C	ENST00000313708.6	-	12	1470	c.1188C>G	c.(1186-1188)aaC>aaG	p.N396K	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.N365K|EBF1_ENST00000517373.1_Missense_Mutation_p.N388K	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	396					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGCTCACCTGGTTGTTGTGTG	0.448			T	HMGA2	lipoma								18	75					0	0	0	0	C	158141128	G	C	158141128	3	2	347	1	0	0	0	0	1	0	0	0	4916	1252	44	4	607	4	EBF1	5	158141128	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	18119760	158141128	22774132	46	65614											
RREB1	6239	broad.mit.edu	37	chr6	7230870	7230870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcgtcggggcgcggggaGgacagtggctgcgctgccct	4	5	21	11	5	0	0	0	0	0	0	1	3	0	2	1	7	2	2	1	7	0	0			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:7230870G>T	ENST00000379938.2	+	10	3075	c.2538G>T	c.(2536-2538)gaG>gaT	p.E846D	RREB1_ENST00000334984.6_Missense_Mutation_p.E846D|RREB1_ENST00000379933.3_Missense_Mutation_p.E846D|RREB1_ENST00000349384.6_Missense_Mutation_p.E846D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	846					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGCGCGGGGAGGACAGTGGCT	0.711													11	15					1.11149e-13	1.20411e-13	1	0	T	7230870	G	T	7230870	3	4	347	1	0	0	0	0	1	0	0	0	13764	991	35	4	2564	4	RREB1	6	7230870	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08		7230870	163884197	47	65615											
RNF182	221687	broad.mit.edu	37	chr6	13978077	13978077	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatgaatttctagactgtAtggcacctccttcttaactg	9	15	7	10	0	3	2	1	1	2	1	4	2	4	2	2	1	1	2	2	1	4	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:13978077A>G	ENST00000488300.1	+	3	1250	c.727A>G	c.(727-729)Atg>Gtg	p.M243V	RNF182_ENST00000544682.1_Missense_Mutation_p.M243V|RNF182_ENST00000537663.1_Missense_Mutation_p.M243V|RNF182_ENST00000537388.1_Missense_Mutation_p.M243V	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	243						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TCTAGACTGTATGGCACCTCC	0.388													12	158					0	0	0	0	G	13978077	A	G	13978077	3	3	347	1	0	0	0	0	1	0	0	0	13551	449	16	5	729	5	RNF182	6	13978077	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08	6747207	13978077	157136990	48	65616											
HIST1H3H	8357	broad.mit.edu	37	chr6	27778027	27778027	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgccgctaccagaagtccaCcgagctgctgatcagaaagc	11	6	10	14	3	1	3	1	1	0	2	3	4	2	3	4	0	4	3	4	0	3	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:27778027C>G	ENST00000369163.2	+	1	186	c.176C>G	c.(175-177)aCc>aGc	p.T59S		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	59					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						CAGAAGTCCACCGAGCTGCTG	0.627													15	50					0	0	0	0	G	27778027	C	G	27778027	3	3	347	1	0	0	0	0	1	0	0	0	7212	507	18	4	178	4	HIST1H3H	6	27778027	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	13799950	27778027	143337040	49	65617											
HSPA1L	3305	broad.mit.edu	37	chr6	31778361	31778361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgctggagggattccagtCaggtcaaaccgccccagcag	9	6	14	12	1	2	0	2	0	0	0	3	2	3	2	4	4	3	2	4	4	1	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:31778361C>T	ENST00000375654.4	-	2	1578	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L	HSPA1L_ENST00000417199.3_Silent_p.L463L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	463					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGATTCCAGTCAGGTCAAACC	0.552													40	76					0	0	0	0	T	31778361	C	T	31778361	2	4	347	1	0	0	0	0	0	0	0	1	7462	813	29	2		2	HSPA1L	6	31778361	Silent	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	4000334	31778361	139336706	50	65618											
DST	667	broad.mit.edu	37	chr6	56480344	56480344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtagaggctagaaattcCtgtcatcaggggctcagata	13	10	11	7	0	3	3	3	0	0	3	4	3	4	3	1	3	0	3	1	3	5	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:56480344C>T	ENST00000370765.6	-	24	8028	c.7921G>A	c.(7921-7923)Gga>Aga	p.G2641R	DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTAGAAATTCCTGTCATCAGG	0.388													16	38					0	0	0	0	T	56480344	C	T	56480344	3	4	347	1	0	0	0	0	1	0	0	0	4819	690	24	4	12478	4	DST	6	56480344	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	24701983	56480344	114634723	51	65619											
BAI3	577	broad.mit.edu	37	chr6	70070781	70070781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcttcataaggatattggtCcttgccgagcagccacaata	11	12	8	10	1	2	0	1	0	1	0	3	2	3	1	3	2	3	1	3	2	4	7			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:70070781C>T	ENST00000370598.1	+	29	4437	c.3616C>T	c.(3616-3618)Cct>Tct	p.P1206S	BAI3_ENST00000238918.8_Missense_Mutation_p.P412S|BAI3_ENST00000546190.1_Missense_Mutation_p.P170S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1206					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGATATTGGTCCTTGCCGAGC	0.358													9	58					0	0	0	0	T	70070781	C	T	70070781	3	4	347	1	0	0	0	0	1	0	0	0	1304	855	30	2	3722	2	BAI3	6	70070781	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	13590437	70070781	101044286	52	65620											
MYB	4602	broad.mit.edu	37	chr6	135521286	135521286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagaactcctacaccattCaaacatgcacttgcagctca	14	8	4	15	0	2	1	2	0	0	1	3	1	3	1	3	0	6	3	3	0	4	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:135521286C>G	ENST00000341911.5	+	12	1972	c.1773C>G	c.(1771-1773)ttC>ttG	p.F591L	MYB_ENST00000442647.2_Missense_Mutation_p.F467L|MYB_ENST00000533624.1_Missense_Mutation_p.F435L|MYB_ENST00000528774.1_Missense_Mutation_p.F588L|MYB_ENST00000316528.8_Missense_Mutation_p.F470L|MYB_ENST00000527615.1_Missense_Mutation_p.F470L|MYB_ENST00000525369.1_Missense_Mutation_p.F385L|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000367814.4_Missense_Mutation_p.F470L|MYB_ENST00000534121.1_Missense_Mutation_p.F575L|MYB_ENST00000534044.1_Missense_Mutation_p.F470L	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	509					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CTACACCATTCAAACATGCAC	0.363			T	NFIB	adenoid cystic carcinoma								35	82					0	0	0	0	G	135521286	C	G	135521286	3	3	347	1	0	0	0	0	1	0	0	0	10077	825	29	2	1819	2	MYB	6	135521286	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	65450505	135521286	35593781	53	65621											
PPIL4	85313	broad.mit.edu	37	chr6	149862095	149862095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctgagatccatgttgatCactgccattattcaccatgg	11	12	7	11	0	2	2	2	2	0	1	3	3	3	2	4	1	2	1	4	1	2	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr6:149862095C>T	ENST00000253329.2	-	4	336	c.304G>A	c.(304-306)Gat>Aat	p.D102N		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	102	PPIase cyclophilin-type.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		CCATGTTGATCACTGCCATTA	0.393													25	42					0	0	0	0	T	149862095	C	T	149862095	3	4	347	1	0	0	0	0	1	0	0	0	12405	826	29	2	1214	2	PPIL4	6	149862095	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	14340809	149862095	21252972	54	65622											
IL6	3569	broad.mit.edu	37	chr7	22768412	22768412	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagatggatgcttccaatCtggattcaatgaggtaccaa	15	10	9	7	0	2	2	1	1	1	1	3	4	3	4	2	3	2	2	2	3	6	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:22768412C>G	ENST00000404625.1	+	4	770	c.311C>G	c.(310-312)tCt>tGt	p.S104C	IL6_ENST00000258743.5_Missense_Mutation_p.S104C|IL6_ENST00000401651.1_Missense_Mutation_p.S28C|IL6_ENST00000406575.1_Missense_Mutation_p.S104C|IL6_ENST00000407492.1_Missense_Mutation_p.S28C|IL6_ENST00000420258.2_Missense_Mutation_p.S158C|IL6_ENST00000401630.3_Missense_Mutation_p.S81C			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	104					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	TGCTTCCAATCTGGATTCAAT	0.428													13	24					0	0	0	0	G	22768412	C	G	22768412	3	3	347	1	0	0	0	0	1	0	0	0	7754	913	32	2	321	2	IL6	7	22768412	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08		22768412	136370251	55	65623											
NFE2L3	9603	broad.mit.edu	37	chr7	26224794	26224794	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggagatcttacatttcaAcacgtatttcataaccacac	14	12	4	11	1	3	1	2	0	1	1	3	2	3	1	1	1	3	1	1	1	4	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:26224794A>G	ENST00000056233.3	+	4	1735	c.1476A>G	c.(1474-1476)caA>caG	p.Q492Q		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	492					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TTACATTTCAACACGTATTTC	0.433													38	61					0	0	0	0	G	26224794	A	G	26224794	2	3	347	1	0	0	0	0	0	0	0	1	10439	40	2	5		5	NFE2L3	7	26224794	Silent	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08	3456382	26224794	132913869	56	65624											
DYNC1I1	1780	broad.mit.edu	37	chr7	95705417	95705417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaatgcagactatgtgtacGatgtcatgtggtcccccgtg	9	11	11	10	2	1	1	1	0	0	1	2	2	2	1	2	1	2	2	2	1	3	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:95705417G>A	ENST00000324972.6	+	15	1802	c.1609G>A	c.(1609-1611)Gat>Aat	p.D537N	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.D520N|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.D500N|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.D517N|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.D500N|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.D520N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	537					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTATGTGTACGATGTCATGTG	0.572											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	214					0	0	0	0	A	95705417	G	A	95705417	3	1	347	1	0	0	0	0	1	0	0	0	4878	1058	37	1	1663	1	DYNC1I1	7	95705417	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	69480623	95705417	63433246	57	65625											
LMTK2	22853	broad.mit.edu	37	chr7	97823729	97823729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacgagaccgagcaccccGtgcccatcatcctcagcaac	11	4	9	17	3	2	1	2	0	0	1	3	4	3	2	5	1	4	2	5	1	1	0			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:97823729G>A	ENST00000297293.5	+	11	4245	c.3952G>A	c.(3952-3954)Gtg>Atg	p.V1318M		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1318					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CGAGCACCCCGTGCCCATCAT	0.637													24	327					0	0	0	0	A	97823729	G	A	97823729	3	1	347	1	0	0	0	0	1	0	0	0	8914	1145	40	1	3994	1	LMTK2	7	97823729	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	2118312	97823729	61314934	58	65626											
TRRAP	8295	broad.mit.edu	37	chr7	98503829	98503829	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgcatggacaagctgtttGatgaatccatactaattggc	11	13	9	8	0	0	2	0	2	0	0	1	3	1	3	1	2	3	3	1	2	4	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:98503829G>C	ENST00000359863.4	+	13	1275	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H	TRRAP_ENST00000446306.3_Missense_Mutation_p.D356H|TRRAP_ENST00000355540.3_Missense_Mutation_p.D356H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	356					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAGCTGTTTGATGAATCCAT	0.388													12	135					0	0	0	0	C	98503829	G	C	98503829	3	2	347	1	0	0	0	0	1	0	0	0	16696	1290	45	2	1112	2	TRRAP	7	98503829	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	680100	98503829	60634834	59	65627											
TMUB1	83590	broad.mit.edu	37	chr7	150778971	150778971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcgcacctgctgttcccGgccgggaaactgggtcctga	6	8	14	13	3	0	1	0	1	0	0	3	3	2	2	4	3	2	3	4	3	1	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr7:150778971G>A	ENST00000392818.3	-	3	763	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	TMUB1_ENST00000462940.1_Missense_Mutation_p.R136W|TMUB1_ENST00000476627.1_Missense_Mutation_p.R136W|TMUB1_ENST00000297533.4_Missense_Mutation_p.R136W|TMUB1_ENST00000482202.1_Missense_Mutation_p.R136W	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	136	Ubiquitin-like.					cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGTTCCCGGCCGGGAAAC	0.647													4	2					0	0	0	0	A	150778971	G	A	150778971	3	1	347	1	0	0	0	0	1	0	0	0	16358	1115	39	1	338	1	TMUB1	7	150778971	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	52275142	150778971	8359692	60	65628											
KLHL38	340359	broad.mit.edu	37	chr8	124664564	124664565	+	Frame_Shift_Del	DEL	CA	CA	-																															aggtcatgcttgatccaaacCatgagggcctcaaacacctt																										TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr8:124664564_124664565delCA	ENST00000325995.7	-	1	625_626	c.602_603delTG	c.(601-603)afs	p.M201fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	201	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGATCCAAACCATGAGGGCCTC	0.559													35	90	---	---	---	---					-	124664565	CA	-	124664564	7	5	347	1	0	1	0	1	0	0	0	0	8442	594	21	0	1154	0	KLHL38	8	124664564	Frame_Shift_Del	DEL	CA	TCGA-CV-A6JE-01A-11D-A31L-08		124664564	21699458	61	65629											
EFR3A	23167	broad.mit.edu	37	chr8	132991143	132991143	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttactgcactgccagggtCtttcctggatcctttgttat	5	17	9	10	0	1	0	0	0	1	0	3	1	3	1	3	2	3	3	3	2	2	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr8:132991143C>G	ENST00000254624.5	+	13	1601	c.1376C>G	c.(1375-1377)tCt>tGt	p.S459C	EFR3A_ENST00000519656.1_Missense_Mutation_p.S423C|EFR3A_ENST00000334503.4_Missense_Mutation_p.S459C	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	459						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CTGCCAGGGTCTTTCCTGGAT	0.418													48	151					0	0	0	0	G	132991143	C	G	132991143	3	3	347	1	0	0	0	0	1	0	0	0	4994	913	32	2	1426	2	EFR3A	8	132991143	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	8326579	132991143	13372879	62	65630											
TG	7038	broad.mit.edu	37	chr8	134024224	134024225	+	Frame_Shift_Ins	INS	-	-	T																															aggcactttgatgttgcccaINStgtcagcactgctgccacca																										TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr8:134024224_134024225insT	ENST00000220616.4	+	36	6381_6382	c.6341_6342insT	c.(6340-6342)cgtfs	p.R2114fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.R2057fs|TG_ENST00000519543.1_Frame_Shift_Ins_p.R247fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.R484fs|TG_ENST00000522523.1_3'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2114					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATGTTGCCCATGTCAGCACTG	0.54													571	93	---	---	---	---					T	134024225	-	T	134024224	7	5	347	1	0	1	1	0	0	0	0	0	15907	217	8	0	6483	0	TG	8	134024224	Frame_Shift_Ins	INS	-	TCGA-CV-A6JE-01A-11D-A31L-08	1033081	134024224	12339798	63	65631											
CDKN2A	1029	broad.mit.edu	37	chr9	21971096	21971096	+	Frame_Shift_Del	DEL	C	C	-																															cagcgtgtccaggaagccctCccgggcagcgtcgtgcacgg																								rs121913384		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr9:21971096delC	ENST00000579755.1	-	2	597	c.305delG	c.(304-306)gafs	p.G103fs	CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.E37fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			29	15	---	---	---	---					-	21971096	C	-	21971096	7	5	347	1	0	1	0	1	0	0	0	0	3190	864	30	0	216	0	CDKN2A	9	21971096	Frame_Shift_Del	DEL	C	TCGA-CV-A6JE-01A-11D-A31L-08		21971096	119242335	64	65632											
ZNF189	7743	broad.mit.edu	37	chr9	104171753	104171753	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacacaggagagaaaccttAtaagtgtgagaagtgcgaca	17	6	11	7	1	0	2	0	1	0	2	0	6	0	3	1	1	2	0	1	1	4	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr9:104171753A>G	ENST00000374861.3	+	3	1945	c.1661A>G	c.(1660-1662)tAt>tGt	p.Y554C	ZNF189_ENST00000339664.2_Missense_Mutation_p.Y568C|ZNF189_ENST00000259395.4_Missense_Mutation_p.Y526C	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	568					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGAAACCTTATAAGTGTGAG	0.433													38	32					0	0	0	0	G	104171753	A	G	104171753	3	3	347	1	0	0	0	0	1	0	0	0	17849	449	16	5	1713	5	ZNF189	9	104171753	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08	82200657	104171753	37041678	65	65633											
ABCA1	19	broad.mit.edu	37	chr9	107599734	107599734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacctgccttgtggctGgagtgtcaggtgtatacagg	7	11	14	9	0	1	1	1	1	0	0	1	2	1	2	3	4	2	2	3	4	2	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr9:107599734G>A	ENST00000374736.3	-	10	1563	c.1169C>T	c.(1168-1170)cCa>cTa	p.P390L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	390					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTTGTGGCTGGAGTGTCAGG	0.527													21	18					0	0	0	0	A	107599734	G	A	107599734	3	1	347	1	0	0	0	0	1	0	0	0	28	1348	47	4	5780	4	ABCA1	9	107599734	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	3427981	107599734	33613697	66	65634											
C9orf91	203197	broad.mit.edu	37	chr9	117399281	117399281	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccccacagctttggtttgtCtacttcgacctggagaactg	7	13	9	12	1	1	1	0	0	1	1	3	3	2	1	3	2	3	2	3	2	2	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr9:117399281C>G	ENST00000374049.4	+	7	1037	c.600C>G	c.(598-600)gtC>gtG	p.V200V	C9orf91_ENST00000288502.4_Silent_p.V199V	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	199						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						TTTGGTTTGTCTACTTCGACC	0.468													33	21					0	0	0	0	G	117399281	C	G	117399281	2	3	347	1	0	0	0	0	0	0	0	1	2530	900	32	2		2	C9orf91	9	117399281	Silent	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	9799547	117399281	23814150	67	65635											
DIP2C	22982	broad.mit.edu	37	chr10	518437	518437	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcggtggtagcgagaggcGgaggaaggagtgacaggagc	10	3	22	6	4	0	2	0	1	0	1	0	7	0	6	0	8	2	1	0	8	2	1	rs148545889		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:518437G>A	ENST00000280886.6	-	3	297	c.210C>T	c.(208-210)tcC>tcT	p.S70S	DIP2C_ENST00000381496.3_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	70						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGCGAGAGGCGGAGGAAGGAG	0.582													37	63					0	0	0	0	A	518437	G	A	518437	2	1	347	1	0	0	0	0	0	0	0	1	4566	1103	39	1		1	DIP2C	10	518437	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08		518437	135016310	68	65636											
ZNF25	219749	broad.mit.edu	37	chr10	38246453	38246453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggtgaattccacaataaCatcctttaatgtcacgggtc	11	13	7	10	1	1	1	1	1	0	0	4	1	3	1	2	2	1	0	2	2	4	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:38246453C>G	ENST00000302609.7	-	3	249	c.37G>C	c.(37-39)Gtt>Ctt	p.V13L	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TCCACAATAACATCCTTTAAT	0.403													6	71					0	0	0	0	G	38246453	C	G	38246453	3	3	347	1	0	0	0	0	1	0	0	0	17889	478	17	4	1349	4	ZNF25	10	38246453	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	37728016	38246453	97288294	69	65637											
A1CF	29974	broad.mit.edu	37	chr10	52595898	52595898	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatactccacgaaggcaaaGcctcggtttttggttttatc	9	14	8	10	2	1	0	1	0	0	0	4	1	2	0	2	3	2	3	2	3	4	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:52595898G>A	ENST00000395489.2	-	8	915	c.519C>T	c.(517-519)ggC>ggT	p.G173G	A1CF_ENST00000395495.1_Silent_p.G180G|A1CF_ENST00000374001.1_Silent_p.G180G|A1CF_ENST00000373997.3_Silent_p.G180G|A1CF_ENST00000282641.2_Silent_p.G180G|A1CF_ENST00000373995.3_Silent_p.G188G|A1CF_ENST00000373993.1_Silent_p.G180G	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	180	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CGAAGGCAAAGCCTCGGTTTT	0.473													20	43					0	0	0	0	A	52595898	G	A	52595898	2	1	347	1	0	0	0	0	0	0	0	1	2	958	34	4		4	A1CF	10	52595898	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	14349445	52595898	82938849	70	65638											
UNC5B	219699	broad.mit.edu	37	chr10	73053606	73053606	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcaagcggctccagctGgccgtcttcgcccccgccct	4	7	11	19	4	2	0	1	0	1	0	4	0	3	0	5	2	2	3	5	2	1	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:73053606G>T	ENST00000335350.6	+	13	2507	c.2091G>T	c.(2089-2091)ctG>ctT	p.L697L	UNC5B_ENST00000373192.4_Silent_p.L686L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	697					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGCTCCAGCTGGCCGTCTTCG	0.657													6	19					0.248553	0.248553	1	0	T	73053606	G	T	73053606	2	4	347	1	0	0	0	0	0	0	0	1	17088	1335	47	4		4	UNC5B	10	73053606	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	20457708	73053606	62481141	71	65639											
CDH23	64072	broad.mit.edu	37	chr10	73551006	73551006	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagcacggcccacctgcTcatcaccatcctggatgaca	11	6	7	17	1	2	1	2	1	0	0	3	2	3	2	4	2	3	2	4	2	1	0			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:73551006T>C	ENST00000224721.6	+	46	6187	c.6182T>C	c.(6181-6183)cTc>cCc	p.L2061P		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2056	Cadherin 19.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCCACCTGCTCATCACCATC	0.602													3	26					0	0	0	0	C	73551006	T	C	73551006	3	2	347	1	0	0	0	0	1	0	0	0	3137	1551	54	5	6694	5	CDH23	10	73551006	Missense_Mutation	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	497400	73551006	61983741	72	65640											
GBF1	8729	broad.mit.edu	37	chr10	104140401	104140401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacgcattgactgttttctcCctcacctacgagatgaactc	10	12	6	13	2	2	3	1	2	1	1	4	4	2	3	2	0	3	2	2	0	3	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:104140401C>T	ENST00000369983.3	+	38	5388	c.5128C>T	c.(5128-5130)Cct>Tct	p.P1710S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1710					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)		CTGTTTTCTCCCTCACCTACG	0.572													130	213					0	0	0	0	T	104140401	C	T	104140401	3	4	347	1	0	0	0	0	1	0	0	0	6320	623	22	4	5274	4	GBF1	10	104140401	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	30589395	104140401	31394346	73	65641											
KCNK18	338567	broad.mit.edu	37	chr10	118969450	118969450	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagactctcatactccatCatcagcaacctggatgaagt	13	9	8	11	0	3	2	3	1	1	1	5	4	4	4	2	2	3	1	2	2	4	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:118969450C>T	ENST00000334549.1	+	3	795	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	265						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CATACTCCATCATCAGCAACC	0.517													15	55					0	0	0	0	T	118969450	C	T	118969450	2	4	347	1	0	0	0	0	0	0	0	1	8118	816	29	2		2	KCNK18	10	118969450	Silent	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	14829049	118969450	16565297	74	65642											
TACC2	10579	broad.mit.edu	37	chr10	123987498	123987498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggaggccatgggcttggGcaccccttcagaagcgattg	7	8	15	11	1	1	1	1	0	0	1	1	3	1	2	3	4	1	3	3	4	1	3	rs114249776	byFrequency	TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr10:123987498G>A	ENST00000369005.1	+	14	8211	c.7871G>A	c.(7870-7872)gGc>gAc	p.G2624D	TACC2_ENST00000368999.1_Missense_Mutation_p.G714D|TACC2_ENST00000369004.3_Missense_Mutation_p.G714D|TACC2_ENST00000360561.3_Missense_Mutation_p.G702D|TACC2_ENST00000369001.1_Missense_Mutation_p.G328D|TACC2_ENST00000260733.3_Missense_Mutation_p.G702D|TACC2_ENST00000334433.3_Missense_Mutation_p.G2624D|TACC2_ENST00000515603.1_Missense_Mutation_p.G2579D|TACC2_ENST00000513429.1_Missense_Mutation_p.G770D|TACC2_ENST00000515273.1_Missense_Mutation_p.G2628D|TACC2_ENST00000358010.1_Missense_Mutation_p.G770D|TACC2_ENST00000453444.2_Missense_Mutation_p.G2628D|TACC2_ENST00000369000.1_Missense_Mutation_p.G324D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2624						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATGGGCTTGGGCACCCCTTCA	0.572													37	57					0	0	0	0	A	123987498	G	A	123987498	3	1	347	1	0	0	0	0	1	0	0	0	15593	1203	42	4	7993	4	TACC2	10	123987498	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	5018048	123987498	11547249	75	65643											
MUC2	4583	broad.mit.edu	37	chr11	1093644	1093644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatcagcaccaccactacGgtgaccccaaccccaacacc	12	3	4	22	1	1	1	1	1	0	0	1	1	1	1	8	1	4	1	8	1	3	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:1093644G>A	ENST00000359061.5	+	32	5331	c.5331G>A	c.(5329-5331)acG>acA	p.1777_1777insT	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000441003.2_Silent_p.T1821T|MUC2_ENST00000333592.6_Silent_p.T109T			Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCACCACTACGGTGACCCCAA	0.612													45	76					0	0	0	0	A	1093644	G	A	1093644	3	1	347	1	0	0	0	0	1	0	0	0	10045	1103	39	1	5581	1	MUC2	11	1093644	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08		1093644	133912872	76	65644											
DCHS1	8642	broad.mit.edu	37	chr11	6648162	6648162	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcagtggccacaatgaaGaggacacgatctcgggggcc	12	5	14	10	2	2	3	1	1	1	2	3	5	2	4	2	4	0	0	2	4	2	0			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:6648162G>C	ENST00000299441.3	-	14	6519	c.6108C>G	c.(6106-6108)ctC>ctG	p.L2036L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2036	Cadherin 19.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAATGAAGAGGACACGAT	0.607													10	34					0	0	0	0	C	6648162	G	C	6648162	2	2	347	1	0	0	0	0	0	0	0	1	4319	929	33	2		2	DCHS1	11	6648162	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	5554518	6648162	128358354	77	65645											
NLRP14	338323	broad.mit.edu	37	chr11	7064875	7064875	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttggccttttgaatgaagatCgagtaaaacaactggagagg	14	10	12	5	1	0	4	0	2	0	2	1	6	0	4	1	3	2	1	1	3	5	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:7064875C>G	ENST00000299481.4	+	4	1964	c.1618C>G	c.(1618-1620)Cga>Gga	p.R540G		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	540					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAATGAAGATCGAGTAAAACA	0.348													9	46					0	0	0	0	G	7064875	C	G	7064875	3	3	347	1	0	0	0	0	1	0	0	0	10546	876	31	3	1628	3	NLRP14	11	7064875	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	416713	7064875	127941641	78	65646											
PAX6	5080	broad.mit.edu	37	chr11	31822284	31822284	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtccccggataccaaccagGgcgggtgccccagcttccgg	7	5	13	16	3	0	0	0	0	0	0	2	1	2	1	7	4	4	1	7	4	2	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:31822284G>C	ENST00000419022.1	-	8	988	c.520C>G	c.(520-522)Cct>Gct	p.P174A	PAX6_ENST00000379129.2_Missense_Mutation_p.P174A|PAX6_ENST00000379132.3_Missense_Mutation_p.P160A|PAX6_ENST00000379123.5_Missense_Mutation_p.P160A|PAX6_ENST00000379115.4_Missense_Mutation_p.P174A|PAX6_ENST00000241001.8_Missense_Mutation_p.P160A|PAX6_ENST00000379107.2_Missense_Mutation_p.P174A|PAX6_ENST00000379111.2_Missense_Mutation_p.P160A	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	160	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TACCAACCAGGGCGGGTGCCC	0.567									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				43	76					0	0	0	0	C	31822284	G	C	31822284	3	2	347	1	0	0	0	0	1	0	0	0	11554	1232	43	4	818	4	PAX6	11	31822284	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	24757409	31822284	103184232	79	65647											
DTX4	23220	broad.mit.edu	37	chr11	58940169	58940169	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacatcgaggcggtggTccgcgccggcccccgcgcgg	4	3	15	19	8	0	0	0	0	0	0	2	1	1	0	6	5	0	0	6	5	0	0			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:58940169T>A	ENST00000227451.3	+	1	205	c.101T>A	c.(100-102)gTc>gAc	p.V34D	DTX4_ENST00000532982.1_Intron	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	34	WWE 1.				Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GAGGCGGTGGTccgcgccggc	0.706													4	14					0	0	0	0	A	58940169	T	A	58940169	3	1	347	1	0	0	0	0	1	0	0	0	4833	1667	58	5	103	5	DTX4	11	58940169	Missense_Mutation	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	27117885	58940169	76066347	80	65648											
ZBTB3	79842	broad.mit.edu	37	chr11	62521470	62521470	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggctccacgaagtagagatCtttttcgctcccaggccttg	7	11	10	13	3	1	1	0	0	1	1	4	3	3	1	3	2	0	3	3	2	2	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:62521470C>G	ENST00000394807.3	-	1	190	c.65G>C	c.(64-66)aGa>aCa	p.R22T		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AAGTAGAGATCTTTTTCGCTC	0.622													10	65					0	0	0	0	G	62521470	C	G	62521470	3	3	347	1	0	0	0	0	1	0	0	0	17629	913	32	2	1667	2	ZBTB3	11	62521470	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	3581301	62521470	72485046	81	65649											
STX5	6811	broad.mit.edu	37	chr11	62591660	62591660	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgaatggtttcctcctgttCcttaaccatgtgtgccaact	7	15	7	12	0	0	1	0	1	0	0	3	1	3	1	5	1	3	2	5	1	3	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:62591660C>G	ENST00000294179.3	-	10	1039	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q	STX5_ENST00000394690.1_Missense_Mutation_p.E242Q|STX5_ENST00000541317.1_Missense_Mutation_p.E200Q|STX5_ENST00000377897.4_Missense_Mutation_p.E296Q	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	296	t-SNARE coiled-coil homology.				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TCCTCCTGTTCCTTAACCATG	0.507													24	102					0	0	0	0	G	62591660	C	G	62591660	3	3	347	1	0	0	0	0	1	0	0	0	15438	864	30	2	189	2	STX5	11	62591660	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	70190	62591660	72414856	82	65650											
ZNHIT2	741	broad.mit.edu	37	chr11	64884705	64884705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cggggcattatccagctcctCcagaagctgcggtccggctc	6	8	12	15	3	0	1	0	0	0	1	5	1	4	1	4	4	3	4	4	4	2	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:64884705C>G	ENST00000310597.4	-	1	465	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	141							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TCCAGCTCCTCCAGAAGCTGC	0.716													4	21					0	0	0	0	G	64884705	C	G	64884705	3	3	347	1	0	0	0	0	1	0	0	0	18300	864	30	2	794	2	ZNHIT2	11	64884705	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	2293045	64884705	70121811	83	65651											
NPAS4	266743	broad.mit.edu	37	chr11	66192413	66192413	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccctgtgctcagcctGgacctgaaaccctggaaatg	8	7	11	15	0	1	1	1	1	0	0	1	3	1	3	6	3	3	1	6	3	2	0			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:66192413G>C	ENST00000311034.2	+	7	2228	c.2052G>C	c.(2050-2052)ctG>ctC	p.L684L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	684					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGCTCAGCCTGGACCTGAAAC	0.602													47	106					0	0	0	0	C	66192413	G	C	66192413	2	2	347	1	0	0	0	0	0	0	0	1	10635	1335	47	4		4	NPAS4	11	66192413	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	1307708	66192413	68814103	84	65652											
MYO7A	4647	broad.mit.edu	37	chr11	76877187	76877187	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagttcatcaagcagatCttccaggccgatgtcgccat	12	9	8	12	2	3	1	2	0	1	1	5	2	4	1	3	1	2	2	3	1	3	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:76877187C>A	ENST00000409709.3	+	15	2048	c.1776C>A	c.(1774-1776)atC>atA	p.I592I	MYO7A_ENST00000409619.2_Silent_p.I581I|MYO7A_ENST00000458637.2_Silent_p.I592I|MYO7A_ENST00000409893.1_Silent_p.I592I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	592	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCAAGCAGATCTTCCAGGCCG	0.587													18	15					3.32936e-07	3.42341e-07	1	0	A	76877187	C	A	76877187	2	1	347	1	0	0	0	0	0	0	0	1	10152	903	32	2		2	MYO7A	11	76877187	Silent	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	10684774	76877187	58129329	85	65653											
FOLH1B	219595	broad.mit.edu	37	chr11	89405088	89405088	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgggaggtcaccgggactCatgggtgtttggtggtattg	5	13	17	6	1	3	0	2	0	1	0	3	2	3	2	1	6	0	2	1	6	1	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:89405088C>T	ENST00000532352.1	+	0	1028							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CACCGGGACTCATGGGTGTTT	0.408													23	29					0	0	0	0	T	89405088	C	T	89405088	1	4	347	0	1	0	0	0	0	0	0	0	6025	838	29	2		2	FOLH1B	11	89405088	RNA	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	12527901	89405088	45601428	86	65654											
FAT3	120114	broad.mit.edu	37	chr11	92532589	92532589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaaattaaccctaattcagGgaatgttattttaaaggaag	16	13	8	4	0	1	1	1	1	0	0	1	3	1	3	1	2	1	1	1	2	8	6			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:92532589G>T	ENST00000298047.6	+	9	6427	c.6410G>T	c.(6409-6411)gGg>gTg	p.G2137V	FAT3_ENST00000409404.2_Missense_Mutation_p.G2137V|FAT3_ENST00000525166.1_Missense_Mutation_p.G1987V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2137	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTAATTCAGGGAATGTTATT	0.418										TCGA Ovarian(4;0.039)			7	9					5.68852e-11	6.01925e-11	1	0	T	92532589	G	T	92532589	3	4	347	1	0	0	0	0	1	0	0	0	5736	1232	43	4	6444	4	FAT3	11	92532589	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	3127501	92532589	42473927	87	65655											
SPA17	53340	broad.mit.edu	37	chr11	124564308	124564308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaatgaaaacaaataGtcttcaaaatgaggaaaaag	25	6	7	3	0	2	3	1	2	1	1	2	4	2	4	0	1	1	0	0	1	11	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr11:124564308G>A	ENST00000532692.1	+	4	1843	c.422G>A	c.(421-423)aGt>aAt	p.S141N	SPA17_ENST00000524614.1_3'UTR|SPA17_ENST00000227135.2_Missense_Mutation_p.S141N|SIAE_ENST00000525730.1_5'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	141	IQ.				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		AAAACAAATAGTCTTCAAAAT	0.393													33	36					0	0	0	0	A	124564308	G	A	124564308	3	1	347	1	0	0	0	0	1	0	0	0	15059	1029	36	4	436	4	SPA17	11	124564308	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	32031719	124564308	10442208	88	65656											
EFCAB4B	84766	broad.mit.edu	37	chr12	3757780	3757780	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcacacggtacacttccCtgaggaggaggcaaacacat	12	6	10	13	2	1	1	1	1	0	0	2	3	2	3	2	4	2	2	2	4	2	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:3757780C>A	ENST00000440314.2	-	11	1520		c.e11-1		EFCAB4B_ENST00000444507.1_Splice_Site|EFCAB4B_ENST00000252322.1_Splice_Site	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B						activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GTACACTTCCCTGAGGAGGAG	0.627													7	19					0.00448238	0.0045575	1	0	A	3757780	C	A	3757780	5	1	347	1	0	0	0	0	0	0	1	0	4973	695	24	4	1381	4	EFCAB4B	12	3757780	Splice_Site	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08		3757780	130094115	89	65657											
FOXJ2	55810	broad.mit.edu	37	chr12	8197435	8197435	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagggtccccctcccctctAtaacaccaaccatgacttta	10	10	5	16	0	1	2	0	2	1	0	3	2	3	2	6	1	2	0	6	1	4	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:8197435A>G	ENST00000162391.3	+	6	1843	c.698A>G	c.(697-699)tAt>tGt	p.Y233C	FOXJ2_ENST00000428177.2_Missense_Mutation_p.Y233C	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	233					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CCTCCCCTCTATAACACCAAC	0.507													35	127					0	0	0	0	G	8197435	A	G	8197435	3	3	347	1	0	0	0	0	1	0	0	0	6059	449	16	5	716	5	FOXJ2	12	8197435	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08	4439655	8197435	125654460	90	65658											
DUSP16	80824	broad.mit.edu	37	chr12	12630855	12630856	+	Frame_Shift_Ins	INS	-	-	T																															ttgctctttggccctgatgcINStccagtctggttcttaatct																										TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:12630855_12630856insT	ENST00000228862.2	-	7	1540_1541	c.909_910insA	c.(907-912)ggcatcfs	p.I304fs	DUSP16_ENST00000545864.1_5'UTR|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	304					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGCCCTGATGCTCCAGTCTGGT	0.475													14	93	---	---	---	---					T	12630856	-	T	12630855	7	5	347	1	0	1	1	0	0	0	0	0	4852	797	28	0	1091	0	DUSP16	12	12630855	Frame_Shift_Ins	INS	-	TCGA-CV-A6JE-01A-11D-A31L-08	4433420	12630855	121221040	91	65659											
SLC4A8	9498	broad.mit.edu	37	chr12	51845919	51845919	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttcctagacacaccatctCagcgtgttcagttcattctt	9	15	5	12	1	4	1	3	0	2	1	6	1	5	1	2	0	1	2	2	0	1	6			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:51845919C>T	ENST00000453097.2	+	4	506	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	SLC4A8_ENST00000535225.2_Nonsense_Mutation_p.Q44*|SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.Q124*|SLC4A8_ENST00000514353.3_Nonsense_Mutation_p.Q44*|SLC4A8_ENST00000394856.1_Nonsense_Mutation_p.Q44*	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	97					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CACACCATCTCAGCGTGTTCA	0.428													43	84					0	0	0	0	T	51845919	C	T	51845919	4	4	347	1	0	0	0	0	0	1	0	0	14747	827	29	2	303	2	SLC4A8	12	51845919	Nonsense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	39215064	51845919	82005976	92	65660											
IKZF4	64375	broad.mit.edu	37	chr12	56427056	56427056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaactttcatcgatcgtctGgccaatagcctcaccaaacg	11	9	6	15	3	3	0	2	0	1	0	5	1	3	0	4	1	3	0	4	1	4	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:56427056G>A	ENST00000262032.5	+	11	1315	c.948G>A	c.(946-948)ctG>ctA	p.L316L	IKZF4_ENST00000547167.1_Silent_p.L316L|IKZF4_ENST00000431367.2_Silent_p.L214L|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Silent_p.L271L			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	316					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCGATCGTCTGGCCAATAGCC	0.502													34	55					0	0	0	0	A	56427056	G	A	56427056	2	1	347	1	0	0	0	0	0	0	0	1	7670	1335	47	4		4	IKZF4	12	56427056	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	4581137	56427056	77424839	93	65661											
SOCS2	8835	broad.mit.edu	37	chr12	93968681	93968681	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaaaattcagattggactCtatcatatgtgtcaaatcca	14	12	7	8	1	4	1	3	0	1	1	5	3	5	3	1	2	0	0	1	2	5	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:93968681C>A	ENST00000340600.2	+	3	921	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	SOCS2_ENST00000551556.1_Missense_Mutation_p.S108Y|SOCS2_ENST00000549122.1_Missense_Mutation_p.S108Y|SOCS2_ENST00000549206.1_Missense_Mutation_p.S108Y|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000536696.2_Missense_Mutation_p.S108Y	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	108	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						AGATTGGACTCTATCATATGT	0.398													13	37					2.27111e-07	2.34853e-07	1	0	A	93968681	C	A	93968681	3	1	347	1	0	0	0	0	1	0	0	0	15002	913	32	2	329	2	SOCS2	12	93968681	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	37541625	93968681	39883214	94	65662											
CRY1	1407	broad.mit.edu	37	chr12	107395078	107395078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttttctttccaaatgcctttCcaaacgagtaagtgcttcag	10	15	6	10	1	2	0	1	0	1	0	4	1	4	0	3	0	3	2	3	0	3	6			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:107395078C>T	ENST00000008527.5	-	5	1531	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	222	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						AAATGCCTTTCCAAACGAGTA	0.323													4	32					0	0	0	0	T	107395078	C	T	107395078	3	4	347	1	0	0	0	0	1	0	0	0	3933	864	30	2	1128	2	CRY1	12	107395078	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	13426397	107395078	26456817	95	65663											
SNRNP35	11066	broad.mit.edu	37	chr12	123950460	123950460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accagcatgagatatttgtgGactacgagctggaaaggact	13	9	12	7	1	0	1	0	1	0	1	0	6	0	4	1	3	3	2	1	3	3	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr12:123950460G>T	ENST00000526639.2	+	2	952	c.373G>T	c.(373-375)Gac>Tac	p.D125Y	SNRNP35_ENST00000350887.5_Missense_Mutation_p.D125Y|SNRNP35_ENST00000412157.2_Missense_Mutation_p.D130Y|SNRNP35_ENST00000527158.2_Intron	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	125	RRM.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GATATTTGTGGACTACGAGCT	0.532													40	63					3.61848e-18	3.94349e-18	1	0	T	123950460	G	T	123950460	3	4	347	1	0	0	0	0	1	0	0	0	14943	1174	41	2	394	2	SNRNP35	12	123950460	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	16555382	123950460	9901435	96	65664											
KCNRG	283518	broad.mit.edu	37	chr13	50594352	50594352	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttttgtgtgtcctaggtAtgtttctataaaacctgata	9	19	7	6	0	2	1	0	1	2	0	3	1	3	1	2	1	1	2	2	1	6	8			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr13:50594352A>T	ENST00000360473.4	+	3	919	c.679A>T	c.(679-681)Atg>Ttg	p.M227L	TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000312942.1_Missense_Mutation_p.Y194F	NM_199464.2	NP_955751.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	0						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TGTCCTAGGTATGTTTCTATA	0.353													6	15					0	0	0	0	T	50594352	A	T	50594352	3	4	347	1	0	0	0	0	1	0	0	0	8140	449	16	5	689	5	KCNRG	13	50594352	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08		50594352	64575526	97	65665											
PCDH8	5100	broad.mit.edu	37	chr13	53422460	53422460	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgtgccgggggcatcctcctCgaaggtgctgtatcggactg	5	9	15	12	4	0	0	0	0	0	0	4	2	2	1	3	4	2	3	3	4	2	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr13:53422460C>G	ENST00000377942.3	-	1	315	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	PCDH8_ENST00000338862.4_Missense_Mutation_p.E38Q	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	38	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCATCCTCCTCGAAGGTGCTG	0.597													48	48					0	0	0	0	G	53422460	C	G	53422460	3	3	347	1	0	0	0	0	1	0	0	0	11588	893	31	3	3112	3	PCDH8	13	53422460	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	2828108	53422460	61747418	98	65666											
TEP1	7011	broad.mit.edu	37	chr14	20841549	20841549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtcccaggagggtgtGggtttggcacacctaggagg	6	9	18	8	0	0	0	0	0	0	0	1	2	1	2	2	6	0	3	2	6	1	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:20841549G>A	ENST00000262715.5	-	47	6734	c.6694C>T	c.(6694-6696)Cac>Tac	p.H2232Y	TEP1_ENST00000545983.1_Missense_Mutation_p.H570Y|TEP1_ENST00000556935.1_Missense_Mutation_p.H2124Y	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2232					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGAGGGTGTGGGTTTGGCAC	0.582													34	36					0	0	0	0	A	20841549	G	A	20841549	3	1	347	1	0	0	0	0	1	0	0	0	15853	1348	47	4	1225	4	TEP1	14	20841549	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08		20841549	86507991	99	65667											
TOX4	9878	broad.mit.edu	37	chr14	21960698	21960698	+	Frame_Shift_Del	DEL	C	C	-																															aacagtggaattggatccagCaccaccatcacaaactcctt																										TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:21960698delC	ENST00000405508.1	+	8	1199	c.923delC	c.(922-924)gafs	p.A308fs	TOX4_ENST00000448790.2_Frame_Shift_Del_p.A285fs|TOX4_ENST00000262709.3_Frame_Shift_Del_p.A308fs			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	308						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TTGGATCCAGCACCACCATCA	0.453													22	122	---	---	---	---					-	21960698	C	-	21960698	7	5	347	1	0	1	0	1	0	0	0	0	16475	710	25	0	949	0	TOX4	14	21960698	Frame_Shift_Del	DEL	C	TCGA-CV-A6JE-01A-11D-A31L-08	1119149	21960698	85388842	100	65668											
CTSG	1511	broad.mit.edu	37	chr14	25043673	25043673	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaggcagagccactgggttCacgtttcgattccgtctgac	7	11	11	12	3	2	2	1	1	1	1	4	3	3	2	2	2	1	3	2	2	1	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:25043673C>T	ENST00000216336.2	-	4	408	c.372G>A	c.(370-372)gtG>gtA	p.V124V		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	124	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CCACTGGGTTCACGTTTCGAT	0.637													27	97					0	0	0	0	T	25043673	C	T	25043673	2	4	347	1	0	0	0	0	0	0	0	1	4067	813	29	2		2	CTSG	14	25043673	Silent	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	3082975	25043673	82305867	101	65669											
NIN	51199	broad.mit.edu	37	chr14	51204924	51204924	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctttaagctcaatttttcTtgctctgtgggattcatggt	6	19	8	8	0	5	0	2	0	3	0	5	1	5	1	0	2	2	2	0	2	2	6			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:51204924T>C	ENST00000245441.5	-	27	5899	c.5709A>G	c.(5707-5709)caA>caG	p.Q1903Q	NIN_ENST00000453196.1_Silent_p.Q1903Q|NIN_ENST00000324330.9_Silent_p.Q1903Q|NIN_ENST00000389868.3_Silent_p.Q1190Q|NIN_ENST00000382041.3_Silent_p.Q1903Q|NIN_ENST00000530997.2_Silent_p.Q1903Q|NIN_ENST00000382043.4_Silent_p.Q1190Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1903					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCAATTTTTCTTGCTCTGTGG	0.408			T	PDGFRB	MPD								48	51					0	0	0	0	C	51204924	T	C	51204924	2	2	347	1	0	0	0	0	0	0	0	1	10487	1606	56	5		5	NIN	14	51204924	Silent	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	26161251	51204924	56144616	102	65670											
SYNE2	23224	broad.mit.edu	37	chr14	64497902	64497902	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaacaggcttgcatctgctAagcaggagatggaatgttgt	13	10	12	6	0	1	1	0	0	1	1	1	3	1	2	0	3	4	5	0	3	4	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:64497902A>T	ENST00000358025.3	+	45	7278	c.7048A>T	c.(7048-7050)Aag>Tag	p.K2350*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.K2350*|SYNE2_ENST00000357395.3_De_novo_Start_InFrame|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.K2350*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2350					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCATCTGCTAAGCAGGAGAT	0.393													130	71					0	0	0	0	T	64497902	A	T	64497902	4	4	347	1	0	0	0	0	0	1	0	0	15537	363	13	5	7222	5	SYNE2	14	64497902	Nonsense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08	13292978	64497902	42851638	103	65671											
ALDH6A1	4329	broad.mit.edu	37	chr14	74538942	74538942	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttgttgatagcggagcaaGacctgctggcggcttaatac	10	10	13	8	2	0	2	0	1	0	1	0	3	0	3	1	3	4	5	1	3	4	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:74538942G>C	ENST00000553458.1	-	4	410	c.312C>G	c.(310-312)gtC>gtG	p.V104V	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Intron|ALDH6A1_ENST00000556852.1_5'UTR|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	104						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	AGCGGAGCAAGACCTGCTGGC	0.463													28	26					0	0	0	0	C	74538942	G	C	74538942	2	2	347	1	0	0	0	0	0	0	0	1	503	929	33	2		2	ALDH6A1	14	74538942	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	10041040	74538942	32810598	104	65672											
ALDH6A1	4329	broad.mit.edu	37	chr14	74539000	74539000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggaaaagcacgtttgcagGaagcaatggctgcatccatt	13	8	11	9	1	0	0	0	0	0	0	1	2	1	2	1	3	4	6	1	3	4	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:74539000G>A	ENST00000553458.1	-	4	352	c.254C>T	c.(253-255)tCc>tTc	p.S85F	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.S85F|ALDH6A1_ENST00000556852.1_5'UTR|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	85						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	ACGTTTGCAGGAAGCAATGGC	0.483													19	22					0	0	0	0	A	74539000	G	A	74539000	3	1	347	1	0	0	0	0	1	0	0	0	503	1174	41	2	1389	2	ALDH6A1	14	74539000	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	58	74539000	32810540	105	65673											
KIAA1737	85457	broad.mit.edu	37	chr14	77576214	77576214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccgaggacatgctgagcGccttaggctggagcagagaa	11	6	15	9	2	0	2	0	1	0	1	1	6	1	4	2	3	3	3	2	3	2	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:77576214G>A	ENST00000361786.2	+	3	513	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	KIAA1737_ENST00000555611.1_Missense_Mutation_p.A66T|KIAA1737_ENST00000555437.1_Intron|RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	66										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		CATGCTGAGCGCCTTAGGCTG	0.547													41	74					0	0	0	0	A	77576214	G	A	77576214	3	1	347	1	0	0	0	0	1	0	0	0	8306	1087	38	1	202	1	KIAA1737	14	77576214	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	3037214	77576214	29773326	106	65674											
FLRT2	23768	broad.mit.edu	37	chr14	86088559	86088559	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcaccaagctcaaggAattttcaattgtacgtaatt	13	13	5	10	1	3	0	3	0	1	0	4	1	3	1	2	1	2	3	2	1	6	6			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:86088559A>T	ENST00000330753.4	+	2	1468	c.701A>T	c.(700-702)gAa>gTa	p.E234V	FLRT2_ENST00000554746.1_Missense_Mutation_p.E234V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	234					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)		AAGCTCAAGGAATTTTCAATT	0.512													47	65					0	0	0	0	T	86088559	A	T	86088559	3	4	347	1	0	0	0	0	1	0	0	0	5984	246	9	5	703	5	FLRT2	14	86088559	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08	8512345	86088559	21260981	107	65675											
CATSPERB	79820	broad.mit.edu	37	chr14	92058278	92058278	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaacagcatgtgaaaacttCtgatcctttgtgcagttaca	12	12	8	9	0	1	2	0	2	1	0	2	2	2	2	1	0	5	4	1	0	4	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:92058278C>G	ENST00000256343.3	-	23	2934	c.2778G>C	c.(2776-2778)caG>caC	p.Q926H		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	926					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTGAAAACTTCTGATCCTTTG	0.363													23	71					0	0	0	0	G	92058278	C	G	92058278	3	3	347	1	0	0	0	0	1	0	0	0	2716	912	32	2	592	2	CATSPERB	14	92058278	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	5969719	92058278	15291262	108	65676											
RIN3	79890	broad.mit.edu	37	chr14	93119130	93119130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgatcctgggcaaggctcGgcaccggctgagctttgcca	7	8	13	13	2	0	2	0	2	0	0	2	2	1	2	3	4	2	5	3	4	1	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr14:93119130G>T	ENST00000216487.7	+	6	1895	c.1736G>T	c.(1735-1737)cGg>cTg	p.R579L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	579					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGCAAGGCTCGGCACCGGCTG	0.597													15	107					6.49762e-13	6.99744e-13	1	0	T	93119130	G	T	93119130	3	4	347	1	0	0	0	0	1	0	0	0	13458	1116	39	3	1758	3	RIN3	14	93119130	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	1060852	93119130	14230410	109	65677											
ZNF770	54989	broad.mit.edu	37	chr15	35275437	35275437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcctctccagatgaactaGttgtctaaaggttttatgac	11	14	8	8	0	2	3	0	2	2	1	3	3	2	3	2	1	2	2	2	1	5	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:35275437G>C	ENST00000356321.4	-	3	543	c.199C>G	c.(199-201)Cta>Gta	p.L67V		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AGATGAACTAGTTGTCTAAAG	0.363													11	32					0	0	0	0	C	35275437	G	C	35275437	3	2	347	1	0	0	0	0	1	0	0	0	18237	1020	36	4	1880	4	ZNF770	15	35275437	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08		35275437	67255955	110	65678											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42137412	42137412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccccagccccatgatcaCaagctctcagatcaacggga	11	8	7	15	1	3	2	3	1	1	1	5	3	4	3	4	1	3	1	4	1	2	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:42137412C>A	ENST00000382448.4	+	19	1953	c.1944C>A	c.(1942-1944)caC>caA	p.H648Q	JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.H648Q|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.H417Q|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.H417Q	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		417	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CCCATGATCACAAGCTCTCAG	0.597													10	20					9.70103e-10	1.02057e-09	1	0	A	42137412	C	A	42137412	3	1	347	1	0	0	0	0	1	0	0	0	8008	477	17	4	2018	4	JMJD7-PLA2G4B	15	42137412	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	6861975	42137412	60393980	111	65679											
SPTBN5	51332	broad.mit.edu	37	chr15	42149831	42149831	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtcttgcagctcaccccaGagtgctcccagctcctccag	6	10	8	17	0	2	1	1	0	1	1	5	1	5	1	5	0	4	4	5	0	0	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:42149831G>C	ENST00000320955.6	-	50	8531	c.8304C>G	c.(8302-8304)ctC>ctG	p.L2768L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2768					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTCACCCCAGAGTGCTCCCA	0.647													5	10					0	0	0	0	C	42149831	G	C	42149831	2	2	347	1	0	0	0	0	0	0	0	1	15212	929	33	2		2	SPTBN5	15	42149831	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	12419	42149831	60381561	112	65680											
TGM5	9333	broad.mit.edu	37	chr15	43527720	43527721	+	Frame_Shift_Ins	INS	-	-	GGCT																															ctgccagaatggggacagggINSggctgccatcgtgcagcaga																										TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:43527720_43527721insGGCT	ENST00000220420.5	-	10	1667_1668	c.1660_1661insAGCC	c.(1660-1662)cctfs	p.-553fs	TGM5_ENST00000349114.4_Frame_Shift_Ins_p.-471fs	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5						epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TGGGGACAGGGGGCTGCCATCG	0.53													18	47	---	---	---	---					GGCT	43527721	-	GGCT	43527720	7	5	347	1	0	1	1	0	0	0	0	0	15927	1232	43	0	517	0	TGM5	15	43527720	Frame_Shift_Ins	INS	-	TCGA-CV-A6JE-01A-11D-A31L-08	1377889	43527720	59003672	113	65681											
MYO9A	4649	broad.mit.edu	37	chr15	72190746	72190746	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcattgtcccgtgaatcaaaTtttggactgctggatatctt	9	15	9	8	1	2	1	1	1	1	0	3	3	3	3	1	2	1	2	1	2	3	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:72190746T>C	ENST00000356056.5	-	25	4570	c.4098A>G	c.(4096-4098)aaA>aaG	p.K1366K	MYO9A_ENST00000444904.1_Silent_p.K1347K|MYO9A_ENST00000424560.1_Silent_p.K1366K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Silent_p.K986K|MYO9A_ENST00000564571.1_Silent_p.K1366K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1366	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTGAATCAAATTTTGGACTGC	0.443													32	33					0	0	0	0	C	72190746	T	C	72190746	2	2	347	1	0	0	0	0	0	0	0	1	10154	1490	52	5		5	MYO9A	15	72190746	Silent	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	28663026	72190746	30340646	114	65682											
HCN4	10021	broad.mit.edu	37	chr15	73615004	73615004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgctggccggggatggCaccatagggcctcccagggg	6	5	18	12	2	0	0	0	0	0	0	1	2	1	1	4	7	1	2	4	7	1	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:73615004C>T	ENST00000261917.3	-	8	4423	c.3430G>A	c.(3430-3432)Gcc>Acc	p.A1144T		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1144					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCGGGGATGGCACCATAGGGC	0.677													8	15					0	0	0	0	T	73615004	C	T	73615004	3	4	347	1	0	0	0	0	1	0	0	0	7049	710	25	4	185	4	HCN4	15	73615004	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	1424258	73615004	28916388	115	65683											
CHD2	1106	broad.mit.edu	37	chr15	93482923	93482923	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aagctcccaaaaggcagactCgtcgaagagcggctaaaaac	16	4	10	11	3	0	2	0	0	0	2	3	3	1	2	1	2	3	3	1	2	7	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:93482923C>G	ENST00000394196.4	+	7	1735	c.667C>G	c.(667-669)Cgt>Ggt	p.R223G	CHD2_ENST00000557381.1_Missense_Mutation_p.R223G|CHD2_ENST00000420239.2_Missense_Mutation_p.R223G|CHD2_ENST00000536619.1_Missense_Mutation_p.R236G	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	223					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGGCAGACTCGTCGAAGAGC	0.428													30	48					0	0	0	0	G	93482923	C	G	93482923	3	3	347	1	0	0	0	0	1	0	0	0	3354	884	31	3	689	3	CHD2	15	93482923	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	19867919	93482923	9048469	116	65684											
MEF2A	4205	broad.mit.edu	37	chr15	100211533	100211533	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaattgtatttcagactttAagaaagaaaggccttaatgg	15	12	8	6	0	1	3	1	0	0	3	1	3	1	3	2	2	0	1	2	2	6	6			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr15:100211533A>T	ENST00000338042.6	+	4	583	c.264A>T	c.(262-264)ttA>ttT	p.L88F	MEF2A_ENST00000557942.1_Missense_Mutation_p.L88F|MEF2A_ENST00000558812.1_Missense_Mutation_p.L20F|MEF2A_ENST00000449277.2_Missense_Mutation_p.L20F|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000557785.1_Missense_Mutation_p.L88F|MEF2A_ENST00000453228.2_Missense_Mutation_p.L88F			Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	88					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TTCAGACTTTAAGAAAGAAAG	0.378													12	71					0	0	0	0	T	100211533	A	T	100211533	3	4	347	1	0	0	0	0	1	0	0	0	9524	359	13	5	274	5	MEF2A	15	100211533	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08	6728610	100211533	2319859	117	65685											
CREBBP	1387	broad.mit.edu	37	chr16	3819250	3819250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctccgtcttcatttcCagcacaggtacgtcaggtcc	6	12	10	13	2	4	0	2	0	2	0	7	0	6	0	3	3	2	2	3	3	1	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr16:3819250C>T	ENST00000262367.5	-	15	3794	c.2985G>A	c.(2983-2985)ctG>ctA	p.L995L	CREBBP_ENST00000382070.3_Silent_p.L957L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	995					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTTCATTTCCAGCACAGGTA	0.602			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						16	66					0	0	0	0	T	3819250	C	T	3819250	2	4	347	1	0	0	0	0	0	0	0	1	3891	581	21	4		4	CREBBP	16	3819250	Silent	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08		3819250	86535503	118	65686											
CREBBP	1387	broad.mit.edu	37	chr16	3900762	3900762	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcactgaggctggccaTgttagcactgttcggctgcc	6	10	13	12	1	0	1	0	1	0	0	1	1	0	1	2	4	2	6	2	4	1	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr16:3900762T>C	ENST00000262367.5	-	2	1143	c.334A>G	c.(334-336)Atg>Gtg	p.M112V	CREBBP_ENST00000382070.3_Missense_Mutation_p.M112V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	112					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGCTGGCCATGTTAGCACTG	0.637			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						16	45					0	0	0	0	C	3900762	T	C	3900762	3	2	347	1	0	0	0	0	1	0	0	0	3891	1464	51	5	7114	5	CREBBP	16	3900762	Missense_Mutation	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	81512	3900762	86453991	119	65687											
TNRC6A	27327	broad.mit.edu	37	chr16	24802570	24802570	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaccattggggtgaggcCaataagaaatccagctcagg	15	7	11	8	0	1	2	1	1	0	1	2	2	2	2	3	4	2	1	3	4	5	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr16:24802570C>A	ENST00000395799.3	+	6	2736	c.2607C>A	c.(2605-2607)gcC>gcA	p.A869A	TNRC6A_ENST00000315183.7_Silent_p.A869A	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	869	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGGGTGAGGCCAATAAGAAAT	0.463													18	26					1.67942e-08	1.75663e-08	1	0	A	24802570	C	A	24802570	2	1	347	1	0	0	0	0	0	0	0	1	16434	581	21	4		4	TNRC6A	16	24802570	Silent	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	20901808	24802570	65552183	120	65688											
FTO	79068	broad.mit.edu	37	chr16	53913760	53913760	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttctgtctcaacagtgctCaacaggaaccttggattata	11	12	9	9	0	3	0	2	0	2	0	4	2	3	2	1	3	4	2	1	3	5	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr16:53913760C>G	ENST00000471389.1	+	6	1202	c.980C>G	c.(979-981)tCa>tGa	p.S327*	FTO_ENST00000394647.3_Nonsense_Mutation_p.S31*	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	327	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CAACAGTGCTCAACAGGAACC	0.413													32	56					0	0	0	0	G	53913760	C	G	53913760	4	3	347	1	0	0	0	0	0	1	0	0	6134	838	29	2	1002	2	FTO	16	53913760	Nonsense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	29111190	53913760	36440993	121	65689											
SLC2A4	6517	broad.mit.edu	37	chr17	7189832	7189832	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttaagagtacctgaaactCgaggccggacgtttgaccag	11	9	11	10	3	1	3	0	2	1	1	2	5	1	4	3	2	2	2	3	2	3	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:7189832C>T	ENST00000317370.8	+	11	1682	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*		NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	472					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						ACCTGAAACTCGAGGCCGGAC	0.542													69	296					0	0	0	0	T	7189832	C	T	7189832	4	4	347	1	0	0	0	0	0	1	0	0	14634	876	31	1	1456	1	SLC2A4	17	7189832	Nonsense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08		7189832	74005378	122	65690											
TP53	7157	broad.mit.edu	37	chr17	7577098	7577098	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctctgtgcgccggtcTctcccaggacaggcacaaac	7	9	9	16	2	3	0	0	0	3	0	6	1	5	1	3	3	2	1	3	3	1	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:7577098T>A	ENST00000420246.2	-	8	972	c.840A>T	c.(838-840)agA>agT	p.R280S	TP53_ENST00000455263.2_Missense_Mutation_p.R280S|TP53_ENST00000269305.4_Missense_Mutation_p.R280S|TP53_ENST00000445888.2_Missense_Mutation_p.R280S|TP53_ENST00000359597.4_Missense_Mutation_p.R280S|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280S(15)|p.0?(8)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCGCCGGTCTCTCCCAGGAC	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	19					0	0	0	0	A	7577098	T	A	7577098	3	1	347	1	0	0	0	0	1	0	0	0	16476	1548	54	5	446	5	TP53	17	7577098	Missense_Mutation	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	387266	7577098	73618112	123	65691											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	23					0	0	0	0	C	7578190	T	C	7578190	3	2	347	1	0	0	0	0	1	0	0	0	16476	1406	49	5	635	5	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	1092	7578190	73617020	124	65692											
BLMH	642	broad.mit.edu	37	chr17	28598379	28598379	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattcatgttcttcaaggaGacaccaaacactaactcatg	14	12	5	10	0	4	1	3	0	1	1	4	2	4	1	1	1	2	1	1	1	4	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:28598379G>C	ENST00000261714.6	-	10	1230	c.1056C>G	c.(1054-1056)gtC>gtG	p.V352V	BLMH_ENST00000394819.3_Silent_p.V265V	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	352					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						TCTTCAAGGAGACACCAAACA	0.428													17	20					0	0	0	0	C	28598379	G	C	28598379	2	2	347	1	0	0	0	0	0	0	0	1	1451	929	33	2		2	BLMH	17	28598379	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	21020189	28598379	52596831	125	65693											
KRT28	162605	broad.mit.edu	37	chr17	38955842	38955842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccagagctcgcacattatCcaggtaggatgccaagcggt	10	8	11	12	2	0	1	0	0	0	1	3	2	2	2	3	3	3	3	3	3	3	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:38955842C>T	ENST00000306658.7	-	1	369	c.304G>A	c.(304-306)Gat>Aat	p.D102N		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	102	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CGCACATTATCCAGGTAGGAT	0.473													22	78					0	0	0	0	T	38955842	C	T	38955842	3	4	347	1	0	0	0	0	1	0	0	0	8517	855	30	2	1122	2	KRT28	17	38955842	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	10357463	38955842	42239368	126	65694											
USH1G	124590	broad.mit.edu	37	chr17	72916692	72916692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaccaggaaggacaggCagtgcaagtggccattggaa	14	4	15	8	0	0	0	0	0	0	0	0	4	0	4	2	6	1	2	2	6	3	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr17:72916692C>A	ENST00000319642.1	-	2	421	c.239G>T	c.(238-240)tGc>tTc	p.C80F		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	80					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GAAGGACAGGCAGTGCAAGTG	0.592													18	74					2.35188e-11	2.50317e-11	1	0	A	72916692	C	A	72916692	3	1	347	1	0	0	0	0	1	0	0	0	17131	710	25	4	1154	4	USH1G	17	72916692	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	33960850	72916692	8278518	127	65695											
RPRD1A	55197	broad.mit.edu	37	chr18	33607167	33607167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttattttatctaatagaGatacttcttggacttcaaca	12	17	5	7	0	3	1	1	0	2	1	3	3	3	2	0	1	2	1	0	1	6	9			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr18:33607167G>T	ENST00000399022.4	-	5	764	c.593C>A	c.(592-594)tCt>tAt	p.S198Y	RPRD1A_ENST00000590898.1_Missense_Mutation_p.S162Y|RPRD1A_ENST00000337059.5_Missense_Mutation_p.S162Y|RPRD1A_ENST00000357384.4_Missense_Mutation_p.S198Y|RPRD1A_ENST00000588737.1_Missense_Mutation_p.S162Y|RPRD1A_ENST00000319040.6_Missense_Mutation_p.S198Y	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	198										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						ATCTAATAGAGATACTTCTTG	0.373													19	49					2.35188e-11	2.50317e-11	1	0	T	33607167	G	T	33607167	3	4	347	1	0	0	0	0	1	0	0	0	13700	942	33	2	357	2	RPRD1A	18	33607167	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08		33607167	44470081	128	65696											
HDGFRP2	84717	broad.mit.edu	37	chr19	4499511	4499511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccgttacaaagcgaacaaGgacgtaatggagaaggcagc	15	4	13	9	4	0	1	0	0	0	1	0	4	0	2	1	3	4	3	1	3	6	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:4499511G>A	ENST00000301284.4	+	14	1663	c.1599G>A	c.(1597-1599)aaG>aaA	p.K533K	HDGFRP2_ENST00000586684.1_Silent_p.K533K	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		533					transcription, DNA-dependent	nucleus	DNA binding|protein binding										AAGCGAACAAGGACGTAATGG	0.607													6	15					0	0	0	0	A	4499511	G	A	4499511	2	1	347	1	0	0	0	0	0	0	0	1	7070	991	35	4		4	HDGFRP2	19	4499511	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08		4499511	54629472	129	65697											
MUC16	94025	broad.mit.edu	37	chr19	9089884	9089884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagactgggacaccgttcGtggccagagtcaaatctgcg	9	7	14	11	4	2	2	1	0	1	2	3	4	2	3	2	3	1	1	2	3	1	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:9089884G>A	ENST00000397910.4	-	1	2134	c.1931C>T	c.(1930-1932)aCg>aTg	p.T644M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	644	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						GACACCGTTCGTGGCCAGAGT	0.562													27	94					0	0	0	0	A	9089884	G	A	9089884	3	1	347	1	0	0	0	0	1	0	0	0	10043	1145	40	1	41928	1	MUC16	19	9089884	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	4590373	9089884	50039099	130	65698											
DNMT1	1786	broad.mit.edu	37	chr19	10262217	10262217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctccttcatggccatattggGacacctgcaatgtcactggt	8	12	9	12	0	2	0	2	0	0	0	3	1	3	1	3	3	1	1	3	3	2	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:10262217G>A	ENST00000340748.4	-	23	2309	c.2074C>T	c.(2074-2076)Ccc>Tcc	p.P692S	DNMT1_ENST00000359526.4_Missense_Mutation_p.P708S|DNMT1_ENST00000540357.1_Missense_Mutation_p.P692S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	692	Required for activity.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GCCATATTGGGACACCTGCAA	0.483													30	110					0	0	0	0	A	10262217	G	A	10262217	3	1	347	1	0	0	0	0	1	0	0	0	4711	1174	41	2	2848	2	DNMT1	19	10262217	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	1172333	10262217	48866766	131	65699											
ICAM3	3385	broad.mit.edu	37	chr19	10444839	10444839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccccgtgttagctcaccctCaatgtccatcaccacgacca	9	8	6	18	2	3	0	3	0	0	0	4	1	4	0	6	0	1	2	6	0	2	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:10444839C>G	ENST00000589261.1	-	6	1739	c.1207G>C	c.(1207-1209)Gag>Cag	p.E403Q	ICAM3_ENST00000160262.5_Missense_Mutation_p.E480Q			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	480					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			AGCTCACCCTCAATGTCCATC	0.572													3	40					0	0	0	0	G	10444839	C	G	10444839	3	3	347	1	0	0	0	0	1	0	0	0	7534	835	29	2	213	2	ICAM3	19	10444839	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	182622	10444839	48684144	132	65700											
HOOK2	29911	broad.mit.edu	37	chr19	12878892	12878892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcattcaaatagccatttctCggccttcatggcctcctcct	7	13	6	15	1	3	0	2	0	1	0	6	0	5	0	5	2	1	1	5	2	2	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:12878892C>T	ENST00000264827.5	-	12	1320	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	HOOK2_ENST00000397668.3_Missense_Mutation_p.E384K|HOOK2_ENST00000589965.1_Intron	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	384	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AGCCATTTCTCGGCCTTCATG	0.597													48	94					0	0	0	0	T	12878892	C	T	12878892	3	4	347	1	0	0	0	0	1	0	0	0	7333	893	31	1	1057	1	HOOK2	19	12878892	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	2434053	12878892	46250091	133	65701											
OR7A5	26659	broad.mit.edu	37	chr19	14938943	14938943	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaggttcccgagcacagtGaccaggtacatggacaggaa	13	5	13	10	1	0	1	0	1	0	0	1	4	1	3	2	4	3	4	2	4	2	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:14938943G>C	ENST00000322301.3	-	2	198	c.111C>G	c.(109-111)gtC>gtG	p.V37V	OR7A5_ENST00000594432.1_Silent_p.V37V|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CGAGCACAGTGACCAGGTACA	0.493													19	38					0	0	0	0	C	14938943	G	C	14938943	2	2	347	1	0	0	0	0	0	0	0	1	11287	1277	45	2		2	OR7A5	19	14938943	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	2060051	14938943	44190040	134	65702											
ZNF181	339318	broad.mit.edu	37	chr19	35230525	35230525	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaaaaggtatgattccAggtgagtcatggtgaacgag	12	10	13	6	1	2	3	2	3	0	0	3	4	3	3	1	3	1	1	1	3	4	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:35230525A>T	ENST00000392232.3	+	5	528	c.361_splice	c.e5+1	p.P120_splice	ZNF181_ENST00000459757.1_Splice_Site_p.P75_splice|ZNF181_ENST00000492450.1_Splice_Site_p.P76_splice			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTATGATTCCAGGTGAGTCAT	0.398													3	55					0	0	0	0	T	35230525	A	T	35230525	5	4	347	1	0	0	0	0	0	0	1	0	17844	202	7	5	238	5	ZNF181	19	35230525	Splice_Site	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08	20291582	35230525	23898458	135	65703											
MEGF8	1954	broad.mit.edu	37	chr19	42839203	42839203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcccctgggaccatgccGctgtgagcctggcttcttgg	4	9	14	14	1	1	1	0	1	1	0	1	2	1	2	5	3	3	3	5	3	0	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:42839203G>A	ENST00000334370.4	+	4	1210	c.575G>A	c.(574-576)cGc>cAc	p.R192H	MEGF8_ENST00000251268.6_Missense_Mutation_p.R192H	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	192	EGF-like 2.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGACCATGCCGCTGTGAGCCT	0.592													3	25					0	0	0	0	A	42839203	G	A	42839203	3	1	347	1	0	0	0	0	1	0	0	0	9532	1087	38	1	589	1	MEGF8	19	42839203	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	7608678	42839203	16289780	136	65704											
PTOV1	53635	broad.mit.edu	37	chr19	50357788	50357788	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcttggagcggcgtcctCgagtggcaggaggtgagtct	5	9	18	9	3	1	1	0	1	1	0	3	4	2	3	1	6	1	2	1	6	0	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:50357788C>T	ENST00000391842.1	+	2	467	c.297C>T	c.(295-297)ctC>ctT	p.L99L	PTOV1_ENST00000601638.1_Silent_p.L67L|PTOV1_ENST00000598325.1_3'UTR|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000601675.1_Silent_p.L99L|PTOV1_ENST00000221557.9_Silent_p.L67L|PTOV1_ENST00000600603.1_Silent_p.L67L|PTOV1_ENST00000599732.1_Silent_p.L99L	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCGGCGTCCTCGAGTGGCAGG	0.672													22	51					0	0	0	0	T	50357788	C	T	50357788	2	4	347	1	0	0	0	0	0	0	0	1	12849	871	31	1		1	PTOV1	19	50357788	Silent	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	7518585	50357788	8771195	137	65705											
SHANK1	50944	broad.mit.edu	37	chr19	51217438	51217438	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgatgcgcacccctccctaCctcccgaatccgagtcatgg	7	8	8	18	3	1	1	1	1	0	0	4	3	4	1	6	1	2	1	6	1	2	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:51217438C>T	ENST00000293441.1	-	4	659		c.e4+1		SHANK1_ENST00000391814.1_Splice_Site|SHANK1_ENST00000359082.3_Splice_Site	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1						cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCCTCCCTACCTCCCGAATC	0.597													18	22					0	0	0	0	T	51217438	C	T	51217438	5	4	347	1	0	0	0	0	0	0	1	0	14352	521	18	4	5924	4	SHANK1	19	51217438	Splice_Site	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	859650	51217438	7911545	138	65706											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628875	51628875	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgacccacaggcccaacaTcctcatcccaggcaccctgg	9	6	7	19	0	1	1	1	1	0	0	3	1	3	1	5	3	1	1	5	3	1	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:51628875T>A	ENST00000440804.3	+	2	510	c.443T>A	c.(442-444)aTc>aAc	p.I148N	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.I148N	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	148	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGGCCCAACATCCTCATCCCA	0.632													66	94					0	0	0	0	A	51628875	T	A	51628875	3	1	347	1	0	0	0	0	1	0	0	0	14403	1435	50	5	449	5	SIGLEC9	19	51628875	Missense_Mutation	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	411437	51628875	7500108	139	65707											
LILRB5	10990	broad.mit.edu	37	chr19	54758896	54758896	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggcgggtatgtcagggatCagtcctggagagaagaagga	12	6	18	5	1	2	2	2	0	0	2	3	6	3	5	1	5	0	1	1	5	3	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:54758896C>G	ENST00000450632.1	-	6	1007	c.930G>C	c.(928-930)ctG>ctC	p.L310L	LILRB5_ENST00000449561.2_Silent_p.L319L|LILRB5_ENST00000345866.6_Silent_p.L219L|LILRB5_ENST00000316219.5_Silent_p.L319L			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	319	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCAGGGATCAGTCCTGGAG	0.597													3	27					0	0	0	0	G	54758896	C	G	54758896	2	3	347	1	0	0	0	0	0	0	0	1	8848	813	29	2		2	LILRB5	19	54758896	Silent	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	3130021	54758896	4370087	140	65708											
NLRP8	126205	broad.mit.edu	37	chr19	56485171	56485171	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgccacacctgagatgTcctctgcagaggctggtgta	7	9	12	13	0	1	2	0	1	1	2	2	3	2	2	4	2	2	3	4	2	1	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr19:56485171T>A	ENST00000291971.3	+	7	2759	c.2688T>A	c.(2686-2688)tgT>tgA	p.C896*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.C877*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	896						cytoplasm	ATP binding	p.C896*(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCTGAGATGTCCTCTGCAGA	0.473													40	43					0	0	0	0	A	56485171	T	A	56485171	4	1	347	1	0	0	0	0	0	1	0	0	10553	1673	58	5	2714	5	NLRP8	19	56485171	Nonsense_Mutation	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	1726275	56485171	2643812	141	65709											
HAO1	54363	broad.mit.edu	37	chr20	7920950	7920950	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacctggaaaatgctgcaatAttatcagccaaagtttcttc	13	13	6	9	0	2	0	1	0	1	0	3	1	2	1	2	1	4	3	2	1	7	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr20:7920950A>T	ENST00000378789.3	-	1	171	c.120T>A	c.(118-120)aaT>aaA	p.N40K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	40	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATGCTGCAATATTATCAGCCA	0.308													11	20					0	0	0	0	T	7920950	A	T	7920950	3	4	347	1	0	0	0	0	1	0	0	0	7001	446	16	5	1024	5	HAO1	20	7920950	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08		7920950	55104570	142	65710											
SNX21	90203	broad.mit.edu	37	chr20	44463731	44463731	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaccagcgctaacgttgtCaaggacccgccctccaagta	10	7	10	14	3	1	1	1	1	0	0	2	2	2	2	4	1	2	3	4	1	4	3	rs141490712	byFrequency	TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr20:44463731C>T	ENST00000372542.1	+	2	708	c.396C>T	c.(394-396)gtC>gtT	p.V132V	SNX21_ENST00000491381.1_Silent_p.V141V|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Silent_p.V141V|SNX21_ENST00000462307.1_Silent_p.V141V|SNX21_ENST00000372541.1_Silent_p.V132V			Q969T3	SNX21_HUMAN	sorting nexin family member 21	141	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CTAACGTTGTCAAGGACCCGC	0.592													11	46					0	0	0	0	T	44463731	C	T	44463731	2	4	347	1	0	0	0	0	0	0	0	1	14981	813	29	2		2	SNX21	20	44463731	Silent	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	36542781	44463731	18561789	143	65711											
COL20A1	57642	broad.mit.edu	37	chr20	61957463	61957463	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atcagggaatgagaggcctgGagggaactgctggcctgcct	9	7	16	9	0	1	1	1	1	0	1	1	5	1	4	3	5	3	1	3	5	2	0			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr20:61957463G>C	ENST00000422202.1	+	29	3507	c.3439G>C	c.(3439-3441)Gag>Cag	p.E1147Q	COL20A1_ENST00000358894.6_Missense_Mutation_p.E1140Q|COL20A1_ENST00000435874.1_Missense_Mutation_p.E1147Q|COL20A1_ENST00000326996.6_Missense_Mutation_p.E1172Q			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1140	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GAGAGGCCTGGAGGGAACTGC	0.662													32	61					0	0	0	0	C	61957463	G	C	61957463	3	2	347	1	0	0	0	0	1	0	0	0	3709	1175	41	2		2	COL20A1	20	61957463	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	17493732	61957463	1068057	144	65712											
DNAJC5	80331	broad.mit.edu	37	chr20	62560822	62560822	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtctctacgtggccgagCagtttggggaagagaacgtg	8	9	17	7	3	1	1	0	0	1	1	2	4	1	2	1	4	3	2	1	4	3	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr20:62560822C>G	ENST00000360864.4	+	3	418	c.265C>G	c.(265-267)Cag>Gag	p.Q89E	DNAJC5_ENST00000369911.2_Missense_Mutation_p.Q89E	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	89					neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGTGGCCGAGCAGTTTGGGGA	0.592													45	86					0	0	0	0	G	62560822	C	G	62560822	3	3	347	1	0	0	0	0	1	0	0	0	4686	711	25	4	271	4	DNAJC5	20	62560822	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	603359	62560822	464698	145	65713											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46012302	46012302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaagagtcacaggaaccagGaaggcagacgcggctgccgt	12	3	15	11	3	1	2	1	0	0	2	1	4	1	4	2	4	2	3	2	4	3	0			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr21:46012302G>A	ENST00000400368.1	-	1	84	c.64C>T	c.(64-66)Cct>Tct	p.P22S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	22						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CAGGAACCAGGAAGGCAGACG	0.677													3	46					0	0	0	0	A	46012302	G	A	46012302	3	1	347	1	0	0	0	0	1	0	0	0	8565	1174	41	2	1037	2	KRTAP10-6	21	46012302	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08		46012302	2117593	146	65714											
CRKL	1399	broad.mit.edu	37	chr22	21272519	21272519	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggacaccaccaccctcatCgagcctgcgcccaggtacgc	8	5	9	19	3	1	0	1	0	0	0	2	2	1	1	5	2	3	1	5	2	1	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr22:21272519C>G	ENST00000354336.3	+	1	806	c.297C>G	c.(295-297)atC>atG	p.I99M		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	99	SH2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|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;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			CCACCCTCATCGAGCCTGCGC	0.612													20	12					0	0	0	0	G	21272519	C	G	21272519	3	3	347	1	0	0	0	0	1	0	0	0	3915	874	31	3	299	3	CRKL	22	21272519	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08		21272519	30032047	147	65715											
RFPL3	10738	broad.mit.edu	37	chr22	32756746	32756746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccacctaatggtgatcaagGtgtcttgagcatctgtcctt	8	14	9	10	0	3	2	1	2	2	0	5	2	5	2	3	2	1	1	3	2	2	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr22:32756746G>A	ENST00000249007.4	+	2	1086	c.881G>A	c.(880-882)gGt>gAt	p.G294D	RFPL3S_ENST00000400234.1_Missense_Mutation_p.P98S|RFPL3_ENST00000382088.3_Missense_Mutation_p.G265D|RFPL3S_ENST00000382084.4_Missense_Mutation_p.P69S|RFPL3_ENST00000397468.1_Missense_Mutation_p.G265D|RFPL3S_ENST00000461833.1_5'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	294	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GGTGATCAAGGTGTCTTGAGC	0.507													17	78					0	0	0	0	A	32756746	G	A	32756746	3	1	347	1	0	0	0	0	1	0	0	0	13337	1261	44	4	887	4	RFPL3	22	32756746	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	11484227	32756746	18547820	148	65716											
RPL3	6122	broad.mit.edu	37	chr22	39710765	39710766	+	Frame_Shift_Ins	INS	-	-	A																															gagaaggctacacgagcaggINSatgccatgccccaatacagg																										TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr22:39710765_39710766insA	ENST00000216146.4	-	6	947_948	c.774_775insT	c.(772-777)cactgcfs	p.C259fs	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Frame_Shift_Ins_p.C207fs	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	259					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					ACACGAGCAGGATGCCATGCCC	0.599													10	74	---	---	---	---					A	39710766	-	A	39710765	7	5	347	1	0	1	1	0	0	0	0	0	13664	1174	41	0	456	0	RPL3	22	39710765	Frame_Shift_Ins	INS	-	TCGA-CV-A6JE-01A-11D-A31L-08	6954019	39710765	11593801	149	65717											
GTSE1	51512	broad.mit.edu	37	chr22	46719097	46719097	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggacttaggtgactccccGgacagctcaacaccaaagct	11	8	9	13	1	1	1	1	1	0	0	2	3	2	3	3	3	3	2	3	3	3	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chr22:46719097G>A	ENST00000454366.1	+	8	1655	c.1443G>A	c.(1441-1443)ccG>ccA	p.P481P		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	462					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GTGACTCCCCGGACAGCTCAA	0.567													4	127					0	0	0	0	A	46719097	G	A	46719097	2	1	347	1	0	0	0	0	0	0	0	1	6935	1103	39	1		1	GTSE1	22	46719097	Silent	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	7008332	46719097	4585469	150	65718											
OFD1	8481	broad.mit.edu	37	chrX	13767612	13767612	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatggatttgctaagaggaAgagaagcagagctgaagcaa	17	7	13	4	0	0	4	0	1	0	3	0	7	0	6	0	2	4	4	0	2	6	3			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:13767612A>T	ENST00000380567.1	+	10	1347	c.475A>T	c.(475-477)Aga>Tga	p.R159*	OFD1_ENST00000398395.3_Nonsense_Mutation_p.R299*|OFD1_ENST00000340096.6_Nonsense_Mutation_p.R299*|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Nonsense_Mutation_p.R299*			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	299					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCTAAGAGGAAGAGAAGCAGA	0.299													31	13					0	0	0	0	T	13767612	A	T	13767612	4	4	347	1	0	0	0	0	0	1	0	0	10909	64	3	5	929	5	OFD1	23	13767612	Nonsense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08		13767612	141502948	151	65719											
KDM6A	7403	broad.mit.edu	37	chrX	44918553	44918553	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcctatatttgtgctgtaCaattggaccatggccatgct	9	13	10	9	0	0	0	0	0	0	0	0	1	0	1	3	3	3	3	3	3	4	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:44918553C>T	ENST00000377967.4	+	12	1077	c.1036C>T	c.(1036-1038)Caa>Taa	p.Q346*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q346*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q346*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q346*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	346					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTGTGCTGTACAATTGGACCA	0.433			"D, N, F, S"		"renal, oesophageal SCC, MM"								24	10					0	0	0	0	T	44918553	C	T	44918553	4	4	347	1	0	0	0	0	0	1	0	0	8189	479	17	4	1082	4	KDM6A	23	44918553	Nonsense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	31150941	44918553	110352007	152	65720											
AR	367	broad.mit.edu	37	chrX	66765955	66765955	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acaccaaagggctagaaggcGagagcctaggctgctctggc	11	5	14	11	1	1	2	0	0	1	2	1	3	1	2	2	4	2	3	2	4	4	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:66765955G>C	ENST00000374690.3	+	1	1491	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	AR_ENST00000396044.3_Missense_Mutation_p.E323Q|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.E323Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	321	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GCTAGAAGGCGAGAGCCTAGG	0.572									Androgen Insensitivity Syndrome				37	9					0	0	0	0	C	66765955	G	C	66765955	3	2	347	1	0	0	0	0	1	0	0	0	838	1059	37	3	969	3	AR	23	66765955	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	21847402	66765955	88504605	153	65721											
ZNF711	7552	broad.mit.edu	37	chrX	84526391	84526391	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatcatatctgtccatactAaggattttcctcacaaatgt	13	14	4	10	0	3	0	2	0	1	0	5	1	5	1	2	1	1	0	2	1	4	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:84526391A>G	ENST00000360700.4	+	10	2867	c.1981A>G	c.(1981-1983)Aag>Gag	p.K661E	ZNF711_ENST00000373165.3_Missense_Mutation_p.K615E|ZNF711_ENST00000542798.1_Missense_Mutation_p.K457E|ZNF711_ENST00000276123.3_Missense_Mutation_p.K615E|ZNF711_ENST00000395402.1_Missense_Mutation_p.K623E			Q9Y462	ZN711_HUMAN	zinc finger protein 711	615					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGTCCATACTAAGGATTTTCC	0.408													14	4					0	0	0	0	G	84526391	A	G	84526391	3	3	347	1	0	0	0	0	1	0	0	0	18211	363	13	5	1869	5	ZNF711	23	84526391	Missense_Mutation	SNP	A	TCGA-CV-A6JE-01A-11D-A31L-08	17760436	84526391	70744169	154	65722											
KLHL4	56062	broad.mit.edu	37	chrX	86919900	86919900	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacttatttgaacacagttGagtcatatgatgcacagaga	15	12	8	6	0	1	4	1	3	0	1	1	5	1	4	0	0	3	2	0	0	4	5			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:86919900G>C	ENST00000373119.4	+	10	2207	c.2062G>C	c.(2062-2064)Gag>Cag	p.E688Q	KLHL4_ENST00000373114.4_Missense_Mutation_p.E688Q	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	688						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GAACACAGTTGAGTCATATGA	0.353													21	10					0	0	0	0	C	86919900	G	C	86919900	3	2	347	1	0	0	0	0	1	0	0	0	8443	1291	45	2	2100	2	KLHL4	23	86919900	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	2393509	86919900	68350660	155	65723											
PCDH11X	27328	broad.mit.edu	37	chrX	91133664	91133664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtatcctcaccaactagtGactatgtcaagatcctggtt	11	13	7	10	0	2	2	2	1	0	1	4	2	4	2	3	1	1	2	3	1	5	4			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:91133664G>A	ENST00000373094.1	+	2	3270	c.2425G>A	c.(2425-2427)Gac>Aac	p.D809N	PCDH11X_ENST00000361655.2_Missense_Mutation_p.D809N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D809N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D809N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D809N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	809					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACCAACTAGTGACTATGTCAA	0.468													46	13					0	0	0	0	A	91133664	G	A	91133664	3	1	347	1	0	0	0	0	1	0	0	0	11579	1290	45	2	2431	2	PCDH11X	23	91133664	Missense_Mutation	SNP	G	TCGA-CV-A6JE-01A-11D-A31L-08	4213764	91133664	64136896	156	65724											
ZDHHC9	51114	broad.mit.edu	37	chrX	128963075	128963075	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaagagcatggcagcaaaTacagggatggcaggagacag	16	3	16	6	0	0	2	0	0	0	2	0	5	0	4	0	5	3	4	0	5	3	1			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:128963075T>C	ENST00000357166.6	-	4	601	c.210A>G	c.(208-210)gtA>gtG	p.V70V	ZDHHC9_ENST00000371064.3_Silent_p.V70V	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	70						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TGGCAGCAAATACAGGGATGG	0.498													55	16					0	0	0	0	C	128963075	T	C	128963075	2	2	347	1	0	0	0	0	0	0	0	1	17717	1393	49	5		5	ZDHHC9	23	128963075	Silent	SNP	T	TCGA-CV-A6JE-01A-11D-A31L-08	37829411	128963075	26307485	157	65725											
ATP6AP1	537	broad.mit.edu	37	chrX	153663828	153663828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgcagccctctccctggCagatgatgcttcaggacttc	7	9	10	15	1	2	2	1	1	1	1	4	3	2	3	2	2	2	4	2	2	0	2			TCGA-CV-A6JE-01A-11D-A31L-08	TCGA-CV-A6JE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cb08cf-3e97-4694-afdf-dad29bb97932	18f14cd1-49c8-4525-98e5-2ef3d540a952	g.chrX:153663828C>G	ENST00000369762.2	+	9	1241	c.1180C>G	c.(1180-1182)Cag>Gag	p.Q394E		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	394					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCTCCCTGGCAGATGATGCT	0.617													8	48					0	0	0	0	G	153663828	C	G	153663828	3	3	347	1	0	0	0	0	1	0	0	0	1169	711	25	4	1214	4	ATP6AP1	23	153663828	Missense_Mutation	SNP	C	TCGA-CV-A6JE-01A-11D-A31L-08	24700753	153663828	1606732	158	65726											
SCNN1D	6339	broad.mit.edu	37	chr1	1226642	1226642	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccacccgcaggtgccgcaGctgctctcggccatgggcag	5	5	13	18	3	1	0	0	0	1	0	2	0	1	0	5	3	3	5	5	3	0	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:1226642G>A	ENST00000338555.2	+	15	2713	c.1569G>A	c.(1567-1569)caG>caA	p.Q523Q	SCNN1D_ENST00000400928.3_Silent_p.Q523Q|SCNN1D_ENST00000379116.5_Silent_p.Q687Q|SCNN1D_ENST00000325425.8_Silent_p.Q589Q					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		AGGTGCCGCAGCTGCTCTCGG	0.716													8	7					0	0	0	0	A	1226642	G	A	1226642	2	1	348	1	0	0	0	0	0	0	0	1	14016	962	34	4		4	SCNN1D	1	1226642	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08		1226642	248023979	1	65727											
NPHP4	261734	broad.mit.edu	37	chr1	5993284	5993284	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctggatcccaccctgcaGaggcagggtcacccttccag	7	6	13	15	0	1	1	1	0	0	1	3	2	3	2	4	4	1	3	4	4	0	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:5993284G>A	ENST00000378156.4	-	10	1490	c.1225C>T	c.(1225-1227)Ctg>Ttg	p.L409L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	409					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	p.L409L(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCCTGCAGAGGCAGGGTC	0.542													20	42					0	0	0	0	A	5993284	G	A	5993284	2	1	348	1	0	0	0	0	0	0	0	1	10651	933	33	2		2	NPHP4	1	5993284	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	4766642	5993284	243257337	2	65728											
SH2D5	400745	broad.mit.edu	37	chr1	21050667	21050667	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgcgaatggccttcttGcgcaccagcgtgggcgagca	6	9	14	12	4	1	0	0	0	1	0	1	2	1	0	2	2	5	3	2	2	1	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:21050667G>A	ENST00000375031.1	-	6	1080	c.456C>T	c.(454-456)cgC>cgT	p.R152R	SH2D5_ENST00000444387.2_Silent_p.R236R|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	152										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGCCTTCTTGCGCACCAGCG	0.672													41	82					0	0	0	0	A	21050667	G	A	21050667	2	1	348	1	0	0	0	0	0	0	0	1	14324	1306	46	4		4	SH2D5	1	21050667	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	15057383	21050667	228199954	3	65729											
PUM1	9698	broad.mit.edu	37	chr1	31426564	31426564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaagccaagtactcacctgGacccatgctggtcttgggaa	11	8	10	12	0	2	0	1	0	1	0	2	2	2	2	3	3	3	2	3	3	4	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:31426564G>A	ENST00000373747.3	-	15	2690	c.2591C>T	c.(2590-2592)tCc>tTc	p.S864F	PUM1_ENST00000426105.2_Missense_Mutation_p.S863F|PUM1_ENST00000440538.2_Missense_Mutation_p.S837F|PUM1_ENST00000257075.5_Missense_Mutation_p.S863F|PUM1_ENST00000424085.2_Missense_Mutation_p.S621F|PUM1_ENST00000423018.2_Missense_Mutation_p.S719F|PUM1_ENST00000373741.4_Missense_Mutation_p.S899F|PUM1_ENST00000373742.2_Missense_Mutation_p.S804F	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	863	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TACTCACCTGGACCCATGCTG	0.428													18	140					0	0	0	0	A	31426564	G	A	31426564	3	1	348	1	0	0	0	0	1	0	0	0	12907	1174	41	2	1010	2	PUM1	1	31426564	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	10375897	31426564	217824057	4	65730											
HDAC1	3065	broad.mit.edu	37	chr1	32797098	32797098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccatacaatgactactttGaatactttggaccagatttc	12	15	5	9	0	0	3	0	2	0	1	2	4	1	4	2	1	3	0	2	1	5	7			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:32797098G>A	ENST00000373548.3	+	10	1087	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	HDAC1_ENST00000373541.2_Missense_Mutation_p.E142K|HDAC1_ENST00000490081.1_3'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	335					anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TGACTACTTTGAATACTTTGG	0.468													28	46					0	0	0	0	A	32797098	G	A	32797098	3	1	348	1	0	0	0	0	1	0	0	0	7054	1291	45	2	1041	2	HDAC1	1	32797098	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	1370534	32797098	216453523	5	65731											
DLGAP3	58512	broad.mit.edu	37	chr1	35370703	35370703	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcgaaggggccctggccAgggtacatcctggggaaggt	7	7	18	9	1	0	0	0	0	0	0	2	2	1	1	3	7	1	1	3	7	3	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:35370703A>G	ENST00000373347.1	-	3	550	c.282T>C	c.(280-282)ccT>ccC	p.P94P	DLGAP3_ENST00000235180.4_Silent_p.P94P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	94					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGCCCTGGCCAGGGTACATCC	0.687													4	7					0	0	0	0	G	35370703	A	G	35370703	2	3	348	1	0	0	0	0	0	0	0	1	4598	175	7	5		5	DLGAP3	1	35370703	Silent	SNP	A	TCGA-CV-A6JM-01A-11D-A31L-08	2573605	35370703	213879918	6	65732											
MAGOH	4116	broad.mit.edu	37	chr1	53694620	53694620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatctccaatgacgatttCaagctcctagaaacatttta	13	14	4	10	1	3	2	2	1	1	1	5	3	4	2	2	0	2	1	2	0	5	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:53694620C>T	ENST00000371470.3	-	4	426	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	MAGOH_ENST00000371466.4_Missense_Mutation_p.E52K	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	89					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						ATGACGATTTCAAGCTCCTAG	0.333													11	37					0	0	0	0	T	53694620	C	T	53694620	3	4	348	1	0	0	0	0	1	0	0	0	9263	835	29	2	183	2	MAGOH	1	53694620	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	18323917	53694620	195556001	7	65733											
HRNR	388697	broad.mit.edu	37	chr1	152191927	152191927	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctagagccgtgttttctGtagccggaggagtgacttga	8	11	14	8	2	1	3	0	2	1	1	1	6	1	5	3	2	2	2	3	2	2	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:152191927G>A	ENST00000368801.2	-	3	2253	c.2178C>T	c.(2176-2178)taC>taT	p.Y726Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	726					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTTTCTGTAGCCGGAGG	0.552													21	290					0	0	0	0	A	152191927	G	A	152191927	2	1	348	1	0	0	0	0	0	0	0	1	7409	1372	48	4		4	HRNR	1	152191927	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	98497307	152191927	97058694	8	65734											
NUP210L	91181	broad.mit.edu	37	chr1	153982496	153982496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgaaagactttacttgctgGaatgtctagcaaagtattac	13	13	8	7	0	1	2	0	1	1	1	1	3	1	3	0	1	4	3	0	1	7	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:153982496G>A	ENST00000368559.3	-	35	4953	c.4882C>T	c.(4882-4884)Cca>Tca	p.P1628S	NUP210L_ENST00000271854.3_Missense_Mutation_p.P1628S|NUP210L_ENST00000368553.1_Missense_Mutation_p.P561S	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1628						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTACTTGCTGGAATGTCTAGC	0.413													47	59					0	0	0	0	A	153982496	G	A	153982496	3	1	348	1	0	0	0	0	1	0	0	0	10832	1174	41	2	808	2	NUP210L	1	153982496	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	1790569	153982496	95268125	9	65735											
NUP210L	91181	broad.mit.edu	37	chr1	153982539	153982539	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtacatggcacagcatGagggtcgctggaagaagtac	13	7	13	8	1	0	2	0	1	0	1	1	3	0	3	0	3	4	5	0	3	5	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:153982539G>T	ENST00000368559.3	-	35	4910	c.4839C>A	c.(4837-4839)ctC>ctA	p.L1613L	NUP210L_ENST00000271854.3_Silent_p.L1613L|NUP210L_ENST00000368553.1_Silent_p.L546L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1613						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGCACAGCATGAGGGTCGCTG	0.418													48	67					1.32667e-27	1.4761e-27	1	0	T	153982539	G	T	153982539	2	4	348	1	0	0	0	0	0	0	0	1	10832	1277	45	2		2	NUP210L	1	153982539	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	43	153982539	95268082	10	65736											
ATP8B2	57198	broad.mit.edu	37	chr1	154313342	154313342	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtgcagtgtggaggtcatCcgtctgggccacagctactt	6	11	13	11	1	2	0	1	0	1	0	3	1	3	1	2	3	3	2	2	3	1	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:154313342C>T	ENST00000368489.3	+	13	1146	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	ATP8B2_ENST00000341822.2_Silent_p.I368I|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	368					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGAGGTCATCCGTCTGGGCC	0.607													27	122					0	0	0	0	T	154313342	C	T	154313342	2	4	348	1	0	0	0	0	0	0	0	1	1199	845	30	2		2	ATP8B2	1	154313342	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	330803	154313342	94937279	11	65737											
GON4L	54856	broad.mit.edu	37	chr1	155764859	155764859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggtgattctcactgcccGgtcagtccggaaatcctctg	7	11	10	13	2	3	1	2	1	2	0	6	2	5	2	3	3	1	0	3	3	1	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:155764859G>A	ENST00000437809.1	-	12	1851	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	GON4L_ENST00000361040.5_Missense_Mutation_p.R577W|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.R577W|GON4L_ENST00000271883.5_Missense_Mutation_p.R577W			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	577					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCACTGCCCGGTCAGTCCGG	0.423													18	46					0	0	0	0	A	155764859	G	A	155764859	3	1	348	1	0	0	0	0	1	0	0	0	6620	1115	39	1	5194	1	GON4L	1	155764859	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	1451517	155764859	93485762	12	65738											
OR10K2	391107	broad.mit.edu	37	chr1	158390379	158390379	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatggcacagcccaggaaaGaaatggtcttcttctgggac	11	8	13	9	0	3	1	0	0	3	1	3	4	3	4	1	5	1	1	1	5	2	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:158390379G>C	ENST00000314902.2	-	1	277	c.278C>G	c.(277-279)tCt>tGt	p.S93C		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93Y(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GCCCAGGAAAGAAATGGTCTT	0.478													68	51					0	0	0	0	C	158390379	G	C	158390379	3	2	348	1	0	0	0	0	1	0	0	0	10985	942	33	2	662	2	OR10K2	1	158390379	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2625520	158390379	90860242	13	65739											
MNDA	4332	broad.mit.edu	37	chr1	158815627	158815627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catatctgattactctgaatGtaaaggagtaatggaaataa	17	12	8	4	0	2	2	0	2	2	0	2	4	2	4	0	2	1	2	0	2	8	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:158815627G>A	ENST00000368141.4	+	5	1082	c.821G>A	c.(820-822)tGt>tAt	p.C274Y		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	274	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TACTCTGAATGTAAAGGAGTA	0.343													4	51					0	0	0	0	A	158815627	G	A	158815627	3	1	348	1	0	0	0	0	1	0	0	0	9746	1377	48	4	835	4	MNDA	1	158815627	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	425248	158815627	90434994	14	65740											
HSPA6	3310	broad.mit.edu	37	chr1	161494725	161494725	+	Frame_Shift_Del	DEL	C	C	-																															agtcggacatgaagcactggCccttccgggtggtgagcgag																										TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:161494725delC	ENST00000309758.4	+	1	690	c.277delC	c.(277-279)ccfs	p.P93fs		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	93					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAAGCACTGGCCCTTCCGGGT	0.652													71	145	---	---	---	---					-	161494725	C	-	161494725	7	5	348	1	0	1	0	1	0	0	0	0	7467	739	26	0	279	0	HSPA6	1	161494725	Frame_Shift_Del	DEL	C	TCGA-CV-A6JM-01A-11D-A31L-08	2679098	161494725	87755896	15	65741											
DDR2	4921	broad.mit.edu	37	chr1	162731134	162731134	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggatgacgtcaaccccaGtgctcggtttgtcacggtgc	6	10	12	13	3	2	1	2	1	0	0	3	2	2	2	3	3	3	2	3	3	1	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:162731134G>C	ENST00000367922.2	+	10	1427	c.989G>C	c.(988-990)aGt>aCt	p.S330T	DDR2_ENST00000367921.3_Missense_Mutation_p.S330T	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	330					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GTCAACCCCAGTGCTCGGTTT	0.512													10	44					0	0	0	0	C	162731134	G	C	162731134	3	2	348	1	0	0	0	0	1	0	0	0	4369	1029	36	4	1015	4	DDR2	1	162731134	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	1236409	162731134	86519487	16	65742											
EDEM3	80267	broad.mit.edu	37	chr1	184723709	184723709	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaggcagaacgcggccgtCgccgccactagtctccatcg	8	5	11	17	6	1	1	0	0	1	1	4	1	1	1	5	2	1	1	5	2	2	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:184723709C>T	ENST00000318130.8	-	1	338	c.72G>A	c.(70-72)gcG>gcA	p.A24A		NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	24					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACGCGGCCGTCGCCGCCACTA	0.716													29	13					0	0	0	0	T	184723709	C	T	184723709	2	4	348	1	0	0	0	0	0	0	0	1	4949	871	31	1		1	EDEM3	1	184723709	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	21992575	184723709	64526912	17	65743											
KDM5B	10765	broad.mit.edu	37	chr1	202710590	202710590	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttctccactgctgaataCggggccagccctacccctag	7	9	9	16	1	1	1	0	1	1	0	2	1	1	1	5	2	4	2	5	2	4	4	rs141076441		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:202710590C>A	ENST00000367265.3	-	19	4014	c.2850G>T	c.(2848-2850)ccG>ccT	p.P950P	KDM5B_ENST00000367264.2_Silent_p.P986P	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	950					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGCTGAATACGGGGCCAGCC	0.557													60	26					3.57465e-26	3.96639e-26	1	0	A	202710590	C	A	202710590	2	1	348	1	0	0	0	0	0	0	0	1	8186	523	19	3		3	KDM5B	1	202710590	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	17986881	202710590	46540031	18	65744											
CNTN2	6900	broad.mit.edu	37	chr1	205039111	205039111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccggccctacacgccctttGaggtcaagatccgcagctac	8	8	9	16	3	1	2	1	1	0	1	3	2	3	2	4	2	3	2	4	2	3	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:205039111G>A	ENST00000331830.4	+	18	2637	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	785	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACGCCCTTTGAGGTCAAGAT	0.667													40	109					0	0	0	0	A	205039111	G	A	205039111	3	1	348	1	0	0	0	0	1	0	0	0	3671	1291	45	2	2419	2	CNTN2	1	205039111	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2328521	205039111	44211510	19	65745											
USH2A	7399	broad.mit.edu	37	chr1	216420042	216420042	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaatcacactcacacatCtggcagtgttgaaaattgtc	14	10	8	9	0	3	1	2	1	1	0	4	2	3	2	0	2	0	2	0	2	4	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:216420042C>T	ENST00000366943.2	-	13	3080	c.2694G>A	c.(2692-2694)caG>caA	p.Q898Q	USH2A_ENST00000366942.3_Silent_p.Q898Q|USH2A_ENST00000307340.3_Silent_p.Q898Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	898	Laminin EGF-like 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTCACACATCTGGCAGTGTT	0.473										HNSCC(13;0.011)			29	111					0	0	0	0	T	216420042	C	T	216420042	2	4	348	1	0	0	0	0	0	0	0	1	17132	912	32	2		2	USH2A	1	216420042	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	11380931	216420042	32830579	20	65746											
MIA3	375056	broad.mit.edu	37	chr1	222805641	222805641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcagaagtgtcacagaagCcaaatactgagaaagacctg	16	6	9	10	0	2	4	2	1	0	4	2	5	2	4	3	0	2	0	3	0	5	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:222805641C>T	ENST00000344922.5	+	5	3329	c.3304C>T	c.(3304-3306)Cca>Tca	p.P1102S	MIA3_ENST00000344441.6_Missense_Mutation_p.P1102S|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1102					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GTCACAGAAGCCAAATACTGA	0.443													63	33					0	0	0	0	T	222805641	C	T	222805641	3	4	348	1	0	0	0	0	1	0	0	0	9634	739	26	4	3322	4	MIA3	1	222805641	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	6385599	222805641	26444980	21	65747											
OBSCN	84033	broad.mit.edu	37	chr1	228565248	228565248	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagatgttgagtgccaccCagtacctgcacaaccagcac	11	6	10	14	0	0	2	0	1	0	1	0	2	0	2	4	1	5	5	4	1	2	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:228565248C>T	ENST00000570156.2	+	113	26283	c.26209C>T	c.(26209-26211)Cag>Tag	p.Q8737*	OBSCN_ENST00000422127.1_Nonsense_Mutation_p.Q7780*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.Q5414*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7780					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGTGCCACCCAGTACCTGCA	0.602													10	32					0	0	0	0	T	228565248	C	T	228565248	4	4	348	1	0	0	0	0	0	1	0	0	10883	595	21	4	24950	4	OBSCN	1	228565248	Nonsense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	5759607	228565248	20685373	22	65748											
HIST3H3	8290	broad.mit.edu	37	chr1	228612919	228612919	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtagcggtgcggcttcttCacgccgccagtggcaggtgc	4	8	16	13	5	2	0	1	0	1	0	2	0	2	0	2	5	3	3	2	5	1	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:228612919C>A	ENST00000366696.1	-	1	107	c.108G>T	c.(106-108)gtG>gtT	p.V36V		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	36					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				GCGGCTTCTTCACGCCGCCAG	0.667													34	118					4.31865e-32	4.84502e-32	1	0	A	228612919	C	A	228612919	2	1	348	1	0	0	0	0	0	0	0	1	7234	813	29	2		2	HIST3H3	1	228612919	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	47671	228612919	20637702	23	65749											
TAF5L	27097	broad.mit.edu	37	chr1	229730338	229730338	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggccaagtcccacagcttCaaccgctggtcctcgccagc	8	6	10	17	2	1	0	1	0	0	0	4	1	3	0	5	2	3	2	5	2	2	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:229730338C>T	ENST00000258281.2	-	5	1641	c.1476G>A	c.(1474-1476)ttG>ttA	p.L492L	TAF5L_ENST00000366676.1_Silent_p.L492L	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	492					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CCCACAGCTTCAACCGCTGGT	0.562													33	87					0	0	0	0	T	229730338	C	T	229730338	2	4	348	1	0	0	0	0	0	0	0	1	15620	825	29	2		2	TAF5L	1	229730338	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1117419	229730338	19520283	24	65750											
OR2M5	127059	broad.mit.edu	37	chr1	248308924	248308924	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctctatggatgcaatcattGatgctgtagcgacattttcc	9	14	9	9	1	2	1	1	1	1	0	3	3	3	2	1	1	3	4	1	1	3	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:248308924G>C	ENST00000366476.1	+	1	475	c.475G>C	c.(475-477)Gat>Cat	p.D159H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGCAATCATTGATGCTGTAGC	0.468													57	213					0	0	0	0	C	248308924	G	C	248308924	3	2	348	1	0	0	0	0	1	0	0	0	11084	1290	45	2	477	2	OR2M5	1	248308924	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	18578586	248308924	941697	25	65751			1	101		4	4	443	G		1.558813e-08
OR2M5	127059	broad.mit.edu	37	chr1	248309207	248309207	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtggtgggaatgtactatgGagcaggtttgttcatgtaca	9	13	15	4	0	1	0	1	0	0	0	1	2	1	2	0	5	3	5	0	5	4	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:248309207G>C	ENST00000366476.1	+	1	758	c.758G>C	c.(757-759)gGa>gCa	p.G253A		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGTACTATGGAGCAGGTTTG	0.498													43	139					0	0	0	0	C	248309207	G	C	248309207	3	2	348	1	0	0	0	0	1	0	0	0	11084	1174	41	2	760	2	OR2M5	1	248309207	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	283	248309207	941414	26	65752			1	101		4	4	443	G		1.558813e-08
OR2M5	127059	broad.mit.edu	37	chr1	248309242	248309242	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtacatacggcccacatctGatcgctcccctatgcaggac	9	9	8	15	2	1	1	0	1	1	0	3	2	2	2	3	2	3	3	3	2	3	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:248309242G>C	ENST00000366476.1	+	1	793	c.793G>C	c.(793-795)Gat>Cat	p.D265H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCCCACATCTGATCGCTCCCC	0.517													30	102					0	0	0	0	C	248309242	G	C	248309242	3	2	348	1	0	0	0	0	1	0	0	0	11084	1290	45	2	795	2	OR2M5	1	248309242	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	35	248309242	941379	27	65753			1	101		4	4	443	G		1.558813e-08
OR2M5	127059	broad.mit.edu	37	chr1	248309366	248309366	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcactcaggaaagtgttagGaaagggcaagtgtggagagt	14	7	16	4	0	1	1	1	0	0	1	1	4	1	3	0	4	1	3	0	4	4	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr1:248309366G>C	ENST00000366476.1	+	1	917	c.917G>C	c.(916-918)gGa>gCa	p.G306A		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AAAGTGTTAGGAAAGGGCAAG	0.438													7	30					0	0	0	0	C	248309366	G	C	248309366	3	2	348	1	0	0	0	0	1	0	0	0	11084	1174	41	2	919	2	OR2M5	1	248309366	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	124	248309366	941255	28	65754			1	101		4	4	443	G		1.558813e-08
LAPTM4A	9741	broad.mit.edu	37	chr2	20237149	20237149	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaccaggcaactgaggacGaagtcaaaaagtcggtaaca	17	4	11	9	2	1	1	1	1	0	0	2	3	1	2	1	3	3	3	1	3	6	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:20237149G>A	ENST00000175091.4	-	4	867	c.360C>T	c.(358-360)ttC>ttT	p.F120F		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	120					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTGAGGACGAAGTCAAAAA	0.358													18	47					0	0	0	0	A	20237149	G	A	20237149	2	1	348	1	0	0	0	0	0	0	0	1	8677	1049	37	1		1	LAPTM4A	2	20237149	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08		20237149	222962224	29	65755											
ASXL2	55252	broad.mit.edu	37	chr2	25966688	25966688	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgaggcacctgagattaGagcaggacctgttggagaag	12	7	16	6	0	0	4	0	2	0	3	0	7	0	5	2	4	1	3	2	4	2	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:25966688G>C	ENST00000435504.4	-	13	2811	c.2518C>G	c.(2518-2520)Cta>Gta	p.L840V	ASXL2_ENST00000336112.4_Missense_Mutation_p.L812V|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	840					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAGATTAGAGCAGGACCT	0.522													47	110					0	0	0	0	C	25966688	G	C	25966688	3	2	348	1	0	0	0	0	1	0	0	0	1071	933	33	2	1793	2	ASXL2	2	25966688	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	5729539	25966688	217232685	30	65756											
PPM1G	5496	broad.mit.edu	37	chr2	27605047	27605047	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattttcatcacgctggctGatctttgattgaatgaaatc	10	15	7	9	1	3	4	2	4	1	0	4	4	3	4	1	1	0	2	1	1	2	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:27605047G>A	ENST00000344034.4	-	9	1644	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	PPM1G_ENST00000350803.4_Silent_p.I460I	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	460					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACGCTGGCTGATCTTTGATT	0.488													25	73					0	0	0	0	A	27605047	G	A	27605047	2	1	348	1	0	0	0	0	0	0	0	1	12416	1280	45	2		2	PPM1G	2	27605047	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	1638359	27605047	215594326	31	65757											
ABCG8	64241	broad.mit.edu	37	chr2	44079860	44079860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatctccctccaccagcctCgctctgacatcttcaggctg	6	11	6	18	1	5	1	2	1	3	0	8	1	6	1	4	1	1	2	4	1	0	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:44079860C>T	ENST00000272286.2	+	6	907	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	273	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCACCAGCCTCGCTCTGACAT	0.592													17	76					0	0	0	0	T	44079860	C	T	44079860	3	4	348	1	0	0	0	0	1	0	0	0	72	884	31	1	839	1	ABCG8	2	44079860	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	16474813	44079860	199119513	32	65758											
PAPOLG	64895	broad.mit.edu	37	chr2	61009834	61009835	+	Frame_Shift_Del	DEL	AG	AG	-																															aatttaggtcttgcagtcacAgatgaaattcttcaaggaaa																										TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:61009834_61009835delAG	ENST00000238714.3	+	12	1290_1291	c.1041_1042delAG	c.(1039-1044)acatfs	p.TD347fs	PAPOLG_ENST00000483370.1_3'UTR	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	347					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTGCAGTCACAGATGAAATTCT	0.302													10	25	---	---	---	---					-	61009835	AG	-	61009834	7	5	348	1	0	1	0	1	0	0	0	0	11502	175	7	0	1087	0	PAPOLG	2	61009834	Frame_Shift_Del	DEL	AG	TCGA-CV-A6JM-01A-11D-A31L-08	16929974	61009834	182189539	33	65759											
XPO1	7514	broad.mit.edu	37	chr2	61720111	61720111	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatccttcatgaattctctCacaacttctccttgatcatt	9	17	3	12	0	5	2	3	2	2	0	8	2	6	2	2	0	1	1	2	0	3	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:61720111C>T	ENST00000401558.2	-	13	2050	c.1323G>A	c.(1321-1323)gtG>gtA	p.V441V	XPO1_ENST00000406957.1_Silent_p.V441V|XPO1_ENST00000404992.2_Silent_p.V441V	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	441	Interaction with RANBP3.|Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGAATTCTCTCACAACTTCTC	0.313			Mis		CLL								51	46					0	0	0	0	T	61720111	C	T	61720111	2	4	348	1	0	0	0	0	0	0	0	1	17541	813	29	2		2	XPO1	2	61720111	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	710277	61720111	181479262	34	65760											
VPS54	51542	broad.mit.edu	37	chr2	64174526	64174526	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcataattacctgtttaatGatattctttgctgtaataac	12	18	5	6	0	1	1	0	1	1	0	1	1	1	1	1	0	4	4	1	0	6	9			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:64174526G>A	ENST00000272322.4	-	9	1390	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	VPS54_ENST00000409558.3_Silent_p.I400I|VPS54_ENST00000354504.3_Intron	NM_016516.2	NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	412					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CCTGTTTAATGATATTCTTTG	0.244													6	14					0	0	0	0	A	64174526	G	A	64174526	2	1	348	1	0	0	0	0	0	0	0	1	17312	1280	45	2		2	VPS54	2	64174526	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2454415	64174526	179024847	35	65761											
CYP26B1	56603	broad.mit.edu	37	chr2	72374783	72374783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagccagtggccggtctCtccgatgagcgggaagccca	8	5	14	14	3	1	1	0	1	1	0	3	3	2	2	4	3	4	1	4	3	1	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:72374783C>T	ENST00000001146.2	-	1	384	c.181G>A	c.(181-183)Gag>Aag	p.E61K	CYP26B1_ENST00000546307.1_Missense_Mutation_p.E61K	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	61					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TGGCCGGTCTCTCCGATGAGC	0.721													5	26					0	0	0	0	T	72374783	C	T	72374783	3	4	348	1	0	0	0	0	1	0	0	0	4188	922	32	2	1381	2	CYP26B1	2	72374783	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	8200257	72374783	170824590	36	65762											
SEMA4F	10505	broad.mit.edu	37	chr2	74881556	74881556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccgggcagcctacagcctCgcccttcccgctactgctgc	4	8	9	20	3	0	0	0	0	0	0	3	0	2	0	5	1	6	3	5	1	2	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:74881556C>T	ENST00000357877.2	+	1	202	c.53C>T	c.(52-54)tCg>tTg	p.S18L	SEMA4F_ENST00000339773.5_Missense_Mutation_p.S18L	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	18					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CCTACAGCCTCGCCCTTCCCG	0.731													5	6					0	0	0	0	T	74881556	C	T	74881556	3	4	348	1	0	0	0	0	1	0	0	0	14122	893	31	1	55	1	SEMA4F	2	74881556	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	2506773	74881556	168317817	37	65763											
NOSTRIN	115677	broad.mit.edu	37	chr2	169659175	169659175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatgagggacccactgacaGattgtccggtgagtagctca	11	8	12	10	1	1	4	1	3	0	1	2	5	2	5	2	2	1	2	2	2	1	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:169659175G>C	ENST00000444448.2	+	3	495	c.19G>C	c.(19-21)Gat>Cat	p.D7H	NOSTRIN_ENST00000397206.2_5'UTR|NOSTRIN_ENST00000445023.2_5'UTR|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.D7H|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.D7H|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.D7H|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.D7H			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	7	FCH.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CCCACTGACAGATTGTCCGGT	0.468													10	24					0	0	0	0	C	169659175	G	C	169659175	3	2	348	1	0	0	0	0	1	0	0	0	10616	942	33	2	21	2	NOSTRIN	2	169659175	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	94777619	169659175	73540198	38	65764											
SLC25A12	8604	broad.mit.edu	37	chr2	172641936	172641936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgatcagggttggcaggagGaaggtctgcaatgcgtgact	9	9	17	6	1	2	2	1	2	1	0	2	4	2	4	0	5	2	3	0	5	2	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:172641936G>A	ENST00000422440.2	-	18	1922	c.1885C>T	c.(1885-1887)Cct>Tct	p.P629S	SLC25A12_ENST00000392592.4_Missense_Mutation_p.P522S	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	629					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TTGGCAGGAGGAAGGTCTGCA	0.493													34	112					0	0	0	0	A	172641936	G	A	172641936	3	1	348	1	0	0	0	0	1	0	0	0	14562	1174	41	2	155	2	SLC25A12	2	172641936	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2982761	172641936	70557437	39	65765											
NEUROD1	4760	broad.mit.edu	37	chr2	182543167	182543167	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cttggccaagcgcagagtctCgattttggacagcttctgcg	7	11	12	11	3	2	1	0	0	2	1	3	3	2	2	1	2	3	2	1	2	1	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:182543167C>G	ENST00000295108.3	-	2	878	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	141	Helix-loop-helix motif.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGCAGAGTCTCGATTTTGGAC	0.582													15	101					0	0	0	0	G	182543167	C	G	182543167	3	3	348	1	0	0	0	0	1	0	0	0	10418	893	31	3	653	3	NEUROD1	2	182543167	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	9901231	182543167	60656206	40	65766											
ITGAV	3685	broad.mit.edu	37	chr2	187516767	187516767	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaccctagcattttaaatCaagacaataaaacctgctca	16	11	4	10	0	2	1	2	0	0	1	2	1	2	1	2	0	4	3	2	0	8	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:187516767C>G	ENST00000261023.3	+	15	1730	c.1456C>G	c.(1456-1458)Caa>Gaa	p.Q486E	ITGAV_ENST00000433736.2_Missense_Mutation_p.Q440E|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.Q450E	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	486					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CATTTTAAATCAAGACAATAA	0.373													8	27					0	0	0	0	G	187516767	C	G	187516767	3	3	348	1	0	0	0	0	1	0	0	0	7941	827	29	2	1565	2	ITGAV	2	187516767	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	4973600	187516767	55682606	41	65767											
CASP8	841	broad.mit.edu	37	chr2	202136242	202136242	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatttcccaccacagggtCatgctctatcagatttcaga	10	12	6	13	0	4	2	3	0	1	2	6	2	6	2	3	1	1	1	3	1	1	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:202136242C>A	ENST00000358485.4	+	3	682	c.486C>A	c.(484-486)gtC>gtA	p.V162V	CASP8_ENST00000432109.2_Silent_p.V103V|CASP8_ENST00000392258.3_Silent_p.V103V|CASP8_ENST00000392259.2_Silent_p.V103V|CASP8_ENST00000392266.3_Silent_p.V103V|CASP8_ENST00000264274.9_Silent_p.V103V|CASP8_ENST00000264275.5_Silent_p.V135V|CASP8_ENST00000323492.7_Silent_p.V103V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	103	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACCACAGGGTCATGCTCTATC	0.403										HNSCC(4;0.00038)			50	55					3.76525e-18	4.11031e-18	1	0	A	202136242	C	A	202136242	2	1	348	1	0	0	0	0	0	0	0	1	2702	813	29	2		2	CASP8	2	202136242	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	14619475	202136242	41063131	42	65768											
CASP8	841	broad.mit.edu	37	chr2	202137501	202137501	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgaagaattcagcaaaggTagaaacaacctgacagccgg	17	6	10	8	1	1	4	1	2	0	2	1	4	1	4	2	2	4	2	2	2	7	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:202137501T>C	ENST00000358485.4	+	4	923		c.e4+2		CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000323492.7_Splice_Site	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCAGCAAAGGTAGAAACAACC	0.413										HNSCC(4;0.00038)			140	135					0	0	0	0	C	202137501	T	C	202137501	5	2	348	1	0	0	0	0	0	0	1	0	2702	1652	57	5	843	5	CASP8	2	202137501	Splice_Site	SNP	T	TCGA-CV-A6JM-01A-11D-A31L-08	1259	202137501	41061872	43	65769											
RAPH1	65059	broad.mit.edu	37	chr2	204326586	204326586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacctttttcacttgtgcCtctttaattttctctagggc	6	19	5	11	0	4	0	2	0	2	0	5	0	4	0	2	1	1	0	2	1	2	8			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:204326586C>T	ENST00000319170.5	-	5	1094	c.795G>A	c.(793-795)gaG>gaA	p.E265E	RAPH1_ENST00000374489.2_Silent_p.E292E|RAPH1_ENST00000457812.1_Silent_p.E265E|RAPH1_ENST00000453034.1_Silent_p.E317E|RAPH1_ENST00000308091.4_Silent_p.E317E|RAPH1_ENST00000439222.1_Silent_p.E290E|RAPH1_ENST00000374488.2_Silent_p.E290E|RAPH1_ENST00000423104.1_Silent_p.E292E|RAPH1_ENST00000374493.3_Silent_p.E317E|RAPH1_ENST00000419464.1_Silent_p.E265E|RAPH1_ENST00000418114.1_Silent_p.E265E	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	265					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCACTTGTGCCTCTTTAATTT	0.368													4	73					0	0	0	0	T	204326586	C	T	204326586	2	4	348	1	0	0	0	0	0	0	0	1	13132	680	24	4		4	RAPH1	2	204326586	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	2189085	204326586	38872787	44	65770											
CRYGC	1420	broad.mit.edu	37	chr2	208994241	208994241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcggggtactcccctcgcCgcagcaagtattgttgacct	7	10	11	13	3	0	1	0	1	0	0	3	1	1	1	4	2	2	5	4	2	3	4	rs149880539	byFrequency	TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:208994241C>T	ENST00000282141.3	-	2	213	c.176G>A	c.(175-177)cGg>cAg	p.R59Q		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	59	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CTCCCCTCGCCGCAGCAAGTA	0.562													40	104					0	0	0	0	T	208994241	C	T	208994241	3	4	348	1	0	0	0	0	1	0	0	0	3946	652	23	1	356	1	CRYGC	2	208994241	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	4667655	208994241	34205132	45	65771											
CUL3	8452	broad.mit.edu	37	chr2	225379491	225379491	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgtacatacacacggtccTacagttaaagtcatataaat	15	12	6	8	1	1	0	1	0	0	0	2	0	2	0	1	1	3	3	1	1	8	7			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:225379491T>C	ENST00000264414.4	-	4	717		c.e4-2		CUL3_ENST00000432260.2_Splice_Site|CUL3_ENST00000409096.1_Splice_Site|CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000409777.1_Splice_Site	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CACACGGTCCTACAGTTAAAG	0.308													10	18					0	0	0	0	C	225379491	T	C	225379491	5	2	348	1	0	0	0	0	0	0	1	0	4088	1536	53	5	1981	5	CUL3	2	225379491	Splice_Site	SNP	T	TCGA-CV-A6JM-01A-11D-A31L-08	16385250	225379491	17819882	46	65772											
SPHKAP	80309	broad.mit.edu	37	chr2	228881360	228881360	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcctggcacgaggaagtttCttttttagaatctaaagggc	10	13	11	7	1	2	1	0	0	2	1	3	3	3	2	1	3	0	2	1	3	5	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:228881360C>G	ENST00000392056.3	-	7	4256	c.4210G>C	c.(4210-4212)Gaa>Caa	p.E1404Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1404Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1404						cytoplasm	protein binding	p.E1404Q(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGGAAGTTTCTTTTTTAGAA	0.448													27	108					0	0	0	0	G	228881360	C	G	228881360	3	3	348	1	0	0	0	0	1	0	0	0	15138	922	32	2	916	2	SPHKAP	2	228881360	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	3501869	228881360	14318013	47	65773											
ECEL1	9427	broad.mit.edu	37	chr2	233344944	233344944	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggccaaactcctcaaactgGgacacactgcccagcaccct	11	5	7	18	1	1	0	1	0	0	0	2	1	2	1	4	2	4	1	4	2	2	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:233344944G>C	ENST00000304546.1	-	18	2457	c.2247C>G	c.(2245-2247)tcC>tcG	p.S749S	ECEL1_ENST00000409941.1_Silent_p.S747S	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	749					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCTCAAACTGGGACACACTGC	0.622													8	47					0	0	0	0	C	233344944	G	C	233344944	2	2	348	1	0	0	0	0	0	0	0	1	4927	1219	43	4		4	ECEL1	2	233344944	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	4463584	233344944	9854429	48	65774											
ASB1	51665	broad.mit.edu	37	chr2	239353338	239353338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaagaaaagtggaccctGaggccttgcaggtctttaaa	14	8	12	7	0	1	3	0	1	1	2	1	5	1	4	2	3	1	1	2	3	6	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr2:239353338G>A	ENST00000264607.4	+	4	1097	c.850G>A	c.(850-852)Gag>Aag	p.E284K	ASB1_ENST00000409297.1_Missense_Mutation_p.E183K	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	284					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		AGTGGACCCTGAGGCCTTGCA	0.493													55	62					0	0	0	0	A	239353338	G	A	239353338	3	1	348	1	0	0	0	0	1	0	0	0	1017	1291	45	2	864	2	ASB1	2	239353338	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	6008394	239353338	3846035	49	65775											
FANCD2	2177	broad.mit.edu	37	chr3	10089666	10089666	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcttcactctctagaccaGagtataatttcatttggcag	10	15	7	9	0	3	2	2	0	1	2	4	2	3	2	1	1	1	3	1	1	3	7			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:10089666G>A	ENST00000287647.3	+	16	1437	c.1344G>A	c.(1342-1344)caG>caA	p.Q448Q	FANCD2_ENST00000383807.1_Silent_p.Q448Q|FANCD2_ENST00000383806.1_Silent_p.Q448Q|FANCD2_ENST00000419585.1_Silent_p.Q448Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	448					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CTCTAGACCAGAGTATAATTT	0.403			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				17	157					0	0	0	0	A	10089666	G	A	10089666	2	1	348	1	0	0	0	0	0	0	0	1	5710	933	33	2		2	FANCD2	3	10089666	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08		10089666	187932764	50	65776											
MYRIP	25924	broad.mit.edu	37	chr3	40293461	40293461	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcaacaaacaggactaagGaaaggaaaggcaccaccaag	19	2	9	11	0	1	0	1	0	0	0	1	3	1	3	3	4	2	1	3	4	6	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:40293461G>T	ENST00000302541.6	+	16	2860	c.2518G>T	c.(2518-2520)Gaa>Taa	p.E840*	MYRIP_ENST00000539167.1_Nonsense_Mutation_p.E653*|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Nonsense_Mutation_p.E751*|MYRIP_ENST00000444716.1_Nonsense_Mutation_p.E840*|MYRIP_ENST00000425621.1_Nonsense_Mutation_p.E775*	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	840	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAGGACTAAGGAAAGGAAAGG	0.403													7	28					0.00198382	0.00201871	1	0	T	40293461	G	T	40293461	4	4	348	1	0	0	0	0	0	1	0	0	10170	1175	41	2	2576	2	MYRIP	3	40293461	Nonsense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	30203795	40293461	157728969	51	65777											
NKTR	4820	broad.mit.edu	37	chr3	42679134	42679134	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaacccatttgctacccatCcaaagcacttacagtttagc	13	10	4	14	0	0	0	0	0	0	0	1	0	1	0	3	0	6	3	3	0	5	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:42679134C>T	ENST00000232978.8	+	13	2126	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	646					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGCTACCCATCCAAAGCACTT	0.413													32	82					0	0	0	0	T	42679134	C	T	42679134	2	4	348	1	0	0	0	0	0	0	0	1	10518	845	30	2		2	NKTR	3	42679134	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	2385673	42679134	155343296	52	65778											
GXYLT2	727936	broad.mit.edu	37	chr3	73016736	73016736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgccagtggaactaccgtCccgatcactgcatgtacgga	9	8	10	14	3	1	0	1	0	0	0	2	3	2	2	4	2	5	2	4	2	3	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:73016736C>T	ENST00000389617.4	+	6	1176	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	339					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						GAACTACCGTCCCGATCACTG	0.502													4	19					0	0	0	0	T	73016736	C	T	73016736	3	4	348	1	0	0	0	0	1	0	0	0	6954	855	30	2	1037	2	GXYLT2	3	73016736	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	30337602	73016736	125005694	53	65779											
SIDT1	54847	broad.mit.edu	37	chr3	113300226	113300226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcccggtgtatgatctcGaccacaatgtggaatttaat	11	12	10	8	2	1	1	0	1	1	0	2	3	1	2	2	2	1	1	2	2	4	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:113300226G>A	ENST00000264852.4	+	6	1408	c.682G>A	c.(682-684)Gac>Aac	p.D228N	SIDT1_ENST00000393830.3_Missense_Mutation_p.D228N	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	228						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GTATGATCTCGACCACAATGT	0.463													17	45					0	0	0	0	A	113300226	G	A	113300226	3	1	348	1	0	0	0	0	1	0	0	0	14390	1058	37	1	704	1	SIDT1	3	113300226	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	40283490	113300226	84722204	54	65780											
CPA3	1359	broad.mit.edu	37	chr3	148596283	148596283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagtttgatgttaaagaaGatatcccaggcaggcacagc	15	8	10	8	0	0	3	0	1	0	2	1	3	1	3	1	2	2	4	1	2	5	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:148596283G>A	ENST00000296046.3	+	4	377	c.325G>A	c.(325-327)Gat>Aat	p.D109N	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	109					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGTTAAAGAAGATATCCCAGG	0.318													53	206					0	0	0	0	A	148596283	G	A	148596283	3	1	348	1	0	0	0	0	1	0	0	0	3821	942	33	2	339	2	CPA3	3	148596283	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	35296057	148596283	49426147	55	65781											
NLGN1	22871	broad.mit.edu	37	chr3	173997435	173997435	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactggacaaattttgctaaAactgggtatgtacctaagga	14	12	9	6	0	0	0	0	0	0	0	0	2	0	2	1	3	4	3	1	3	7	7			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:173997435A>C	ENST00000457714.1	+	6	2073	c.1644A>C	c.(1642-1644)aaA>aaC	p.K548N	NLGN1_ENST00000401917.3_Missense_Mutation_p.K588N|NLGN1_ENST00000361589.4_Missense_Mutation_p.K548N|NLGN1_ENST00000545397.1_Missense_Mutation_p.K548N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	565					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATTTTGCTAAAACTGGGTATG	0.313													12	96					0	0	0	0	C	173997435	A	C	173997435	3	2	348	1	0	0	0	0	1	0	0	0	10531	11	1	5	1658	5	NLGN1	3	173997435	Missense_Mutation	SNP	A	TCGA-CV-A6JM-01A-11D-A31L-08	25401152	173997435	24024995	56	65782											
NAALADL2	254827	broad.mit.edu	37	chr3	174951857	174951857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgatctgccaggcccttctCccagcactgtgactctgagc	6	11	9	15	0	3	3	0	3	3	0	4	3	3	3	3	1	3	1	3	1	0	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:174951857C>T	ENST00000454872.1	+	3	810	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	228					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGGCCCTTCTCCCAGCACTGT	0.473													21	178					0	0	0	0	T	174951857	C	T	174951857	3	4	348	1	0	0	0	0	1	0	0	0	10200	855	30	2	692	2	NAALADL2	3	174951857	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	954422	174951857	23070573	57	65783											
PIK3CA	5290	broad.mit.edu	37	chr3	178936013	178936013	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagagtaacagactagctAgagacaatgaattaagggaa	19	7	10	5	0	0	4	0	1	0	3	0	6	0	5	0	1	3	2	0	1	8	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:178936013A>G	ENST00000263967.3	+	10	1712	c.1555A>G	c.(1555-1557)Aga>Gga	p.R519G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	519					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CAGACTAGCTAGAGACAATGA	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	31					0	0	0	0	G	178936013	A	G	178936013	3	3	348	1	0	0	0	0	1	0	0	0	11985	412	15	5	1589	5	PIK3CA	3	178936013	Missense_Mutation	SNP	A	TCGA-CV-A6JM-01A-11D-A31L-08	3984156	178936013	19086417	58	65784											
CCDC39	339829	broad.mit.edu	37	chr3	180397109	180397109	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agtagcttgttctcctcgttCgccaccgggatggcgaaccc	6	10	11	14	4	1	0	0	0	1	0	4	2	1	1	4	2	2	4	4	2	2	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:180397109C>G	ENST00000273654.4	-	7	931	c.312G>C	c.(310-312)gcG>gcC	p.A104A	CCDC39_ENST00000442201.2_Silent_p.A20A			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	20					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTCCTCGTTCGCCACCGGGA	0.547													52	334					0	0	0	0	G	180397109	C	G	180397109	2	3	348	1	0	0	0	0	0	0	0	1	2837	871	31	3		3	CCDC39	3	180397109	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1461096	180397109	17625321	59	65785											
CCDC39	339829	broad.mit.edu	37	chr3	180397135	180397135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgggatggcgaacccatcctCccagtgcagctcagccagga	9	5	12	15	2	1	0	1	0	0	0	3	3	3	2	4	3	4	2	4	3	1	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:180397135C>T	ENST00000273654.4	-	7	905	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CCDC39_ENST00000442201.2_Missense_Mutation_p.E12K			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	12					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AACCCATCCTCCCAGTGCAGC	0.547													138	254					0	0	0	0	T	180397135	C	T	180397135	3	4	348	1	0	0	0	0	1	0	0	0	2837	864	30	2	2871	2	CCDC39	3	180397135	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	26	180397135	17625295	60	65786											
RFC4	5984	broad.mit.edu	37	chr3	186507997	186507997	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttctacaaccacatcatgGagttgattgacgagctgagt	11	13	9	8	1	2	3	1	3	1	0	2	5	2	4	1	1	3	2	1	1	2	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr3:186507997G>C	ENST00000392481.2	-	10	1211	c.930C>G	c.(928-930)ctC>ctG	p.L310L	RFC4_ENST00000433496.1_Silent_p.L283L|RFC4_ENST00000296273.2_Silent_p.L310L	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	310					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CCACATCATGGAGTTGATTGA	0.343													50	92					0	0	0	0	C	186507997	G	C	186507997	2	2	348	1	0	0	0	0	0	0	0	1	13329	1161	41	2		2	RFC4	3	186507997	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	6110862	186507997	11514433	61	65787											
SORCS2	57537	broad.mit.edu	37	chr4	7668891	7668891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatactacgtctcttatcGtcgaaatgaatttgtcctga	13	14	6	8	3	1	2	0	2	1	0	5	3	2	2	1	0	2	0	1	0	7	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:7668891G>A	ENST00000507866.2	+	8	1221	c.1112G>A	c.(1111-1113)cGt>cAt	p.R371H	SORCS2_ENST00000329016.9_Missense_Mutation_p.R199H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	371						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GTCTCTTATCGTCGAAATGAA	0.488													49	143					0	0	0	0	A	7668891	G	A	7668891	3	1	348	1	0	0	0	0	1	0	0	0	15019	1145	40	1	1142	1	SORCS2	4	7668891	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08		7668891	183485385	62	65788											
SLC4A4	8671	broad.mit.edu	37	chr4	72205057	72205057	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagggttgtccagccaaTgtttaaccacagtattttca	10	13	7	11	0	2	0	2	0	0	0	3	0	3	0	4	1	2	3	4	1	3	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:72205057T>A	ENST00000340595.3	+	1	288	c.92T>A	c.(91-93)aTg>aAg	p.M31K	SLC4A4_ENST00000514331.1_Intron|SLC4A4_ENST00000512686.1_Missense_Mutation_p.M31K|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000351898.6_Intron	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GTCCAGCCAATGTTTAACCAC	0.537													84	226					0	0	0	0	A	72205057	T	A	72205057	3	1	348	1	0	0	0	0	1	0	0	0	14744	1464	51	5	355	5	SLC4A4	4	72205057	Missense_Mutation	SNP	T	TCGA-CV-A6JM-01A-11D-A31L-08	64536166	72205057	118949219	63	65789											
PPEF2	5470	broad.mit.edu	37	chr4	76797791	76797791	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctccatctgcttctcactCttctgtctcgttttgcacct	3	18	4	16	1	5	0	1	0	5	0	9	0	7	0	3	0	2	3	3	0	0	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:76797791C>T	ENST00000286719.7	-	11	1325	c.969G>A	c.(967-969)aaG>aaA	p.K323K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	323	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCTTCTCACTCTTCTGTCTCG	0.512													5	51					0	0	0	0	T	76797791	C	T	76797791	2	4	348	1	0	0	0	0	0	0	0	1	12379	912	32	2		2	PPEF2	4	76797791	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	4592734	76797791	114356485	64	65790											
FRAS1	80144	broad.mit.edu	37	chr4	79359850	79359850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaatttcacaatggaaGacatcaataacaagaaaatc	19	10	4	8	0	2	2	2	0	0	2	4	3	3	3	1	1	1	0	1	1	8	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:79359850G>T	ENST00000264895.6	+	39	5784	c.5344G>T	c.(5344-5346)Gac>Tac	p.D1782Y	FRAS1_ENST00000325942.6_Missense_Mutation_p.D1782Y	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1781					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						cacaATGGAAGACATCAATAA	0.348													7	11					0.00198382	0.00201871	1	0	T	79359850	G	T	79359850	3	4	348	1	0	0	0	0	1	0	0	0	6089	942	33	2	5498	2	FRAS1	4	79359850	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2562059	79359850	111794426	65	65791											
MEPE	56955	broad.mit.edu	37	chr4	88767090	88767090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctggaagagaaggaaacaGagtggatgctggcagccaaa	15	4	14	8	0	0	2	0	0	0	2	0	6	0	5	2	4	3	2	2	4	4	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:88767090G>A	ENST00000497649.2	+	6	1376	c.998G>A	c.(997-999)aGa>aAa	p.R333K	MEPE_ENST00000424957.3_Missense_Mutation_p.R357K|MEPE_ENST00000540395.1_Missense_Mutation_p.R244K|MEPE_ENST00000395102.4_Missense_Mutation_p.R388K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.R357K|MEPE_ENST00000560249.1_Missense_Mutation_p.R244K			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	357					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GAAGGAAACAGAGTGGATGCT	0.478													8	44					0	0	0	0	A	88767090	G	A	88767090	3	1	348	1	0	0	0	0	1	0	0	0	9547	942	33	2	1080	2	MEPE	4	88767090	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	9407240	88767090	102387186	66	65792											
GAB1	2549	broad.mit.edu	37	chr4	144359510	144359510	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacacctggtaatacttatCagattccacgaacatttcca	14	11	4	12	1	1	1	1	0	0	1	3	2	3	1	3	1	3	1	3	1	5	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:144359510C>G	ENST00000262995.4	+	4	1379	c.952C>G	c.(952-954)Cag>Gag	p.Q318E	GAB1_ENST00000505913.1_Missense_Mutation_p.Q215E|GAB1_ENST00000262994.4_Missense_Mutation_p.Q318E	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	318					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TAATACTTATCAGATTCCACG	0.438													15	46					0	0	0	0	G	144359510	C	G	144359510	3	3	348	1	0	0	0	0	1	0	0	0	6196	827	29	2	966	2	GAB1	4	144359510	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	55592420	144359510	46794766	67	65793											
GAB1	2549	broad.mit.edu	37	chr4	144359528	144359528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcagattccacgaacatttCcagaaggaaccttgggacag	14	8	9	10	1	1	2	1	0	0	2	3	5	3	4	3	2	2	0	3	2	3	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:144359528C>G	ENST00000262995.4	+	4	1397	c.970C>G	c.(970-972)Cca>Gca	p.P324A	GAB1_ENST00000505913.1_Missense_Mutation_p.P221A|GAB1_ENST00000262994.4_Missense_Mutation_p.P324A	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	324					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ACGAACATTTCCAGAAGGAAC	0.453													19	47					0	0	0	0	G	144359528	C	G	144359528	3	3	348	1	0	0	0	0	1	0	0	0	6196	855	30	2	984	2	GAB1	4	144359528	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	18	144359528	46794748	68	65794											
NEK1	4750	broad.mit.edu	37	chr4	170428925	170428925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacttccttcttgtccttCagaatgattagcttctttct	6	20	4	11	0	5	2	2	1	3	1	7	2	7	2	2	0	1	1	2	0	2	8			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr4:170428925C>T	ENST00000439128.2	-	20	2408	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	NEK1_ENST00000510533.1_Missense_Mutation_p.E546K|NEK1_ENST00000507142.1_Missense_Mutation_p.E618K|NEK1_ENST00000512193.1_Missense_Mutation_p.E521K|NEK1_ENST00000511633.1_Missense_Mutation_p.E574K	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	590					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTTGTCCTTCAGAATGATTA	0.348													16	23					0	0	0	0	T	170428925	C	T	170428925	3	4	348	1	0	0	0	0	1	0	0	0	10391	835	29	2	2068	2	NEK1	4	170428925	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	26069397	170428925	20725351	69	65795											
PLEKHG4B	153478	broad.mit.edu	37	chr5	171220	171220	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgcagtcggatgccctgctCagcagccatggcaacgcctt	7	7	11	16	3	1	0	1	0	0	0	2	1	1	1	4	2	5	4	4	2	1	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:171220C>G	ENST00000283426.6	+	13	2774	c.2724C>G	c.(2722-2724)ctC>ctG	p.L908L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	908	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		ATGCCCTGCTCAGCAGCCATG	0.632													27	31					0	0	0	0	G	171220	C	G	171220	2	3	348	1	0	0	0	0	0	0	0	1	12144	813	29	2		2	PLEKHG4B	5	171220	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08		171220	180744040	70	65796											
NKD2	85409	broad.mit.edu	37	chr5	1038447	1038452	+	In_Frame_Del	DEL	CACCAC	CACCAC	-																															agcaccaccaccaccacgagCaccaccaccaccaccaccac																								rs3840989		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:1038447_1038452delCACCAC	ENST00000296849.5	+	10	1544_1549	c.1315_1320delCACCAC	c.(1315-1320)del	p.HH445del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.APP78del	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	445	His-rich.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccaccacc	0.689													4	2	---	---	---	---					-	1038452	CACCAC	-	1038447	7	5	348	1	0	1	0	1	0	0	0	0	10512	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CACCAC	TCGA-CV-A6JM-01A-11D-A31L-08	867227	1038447	179876813	71	65797											
TRIO	7204	broad.mit.edu	37	chr5	14368980	14368980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcaagctcgtcaacgcctCtgtcgctttctacaaaacct	9	11	5	16	3	4	0	2	0	2	0	6	0	4	0	3	0	4	2	3	0	5	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:14368980C>T	ENST00000344204.4	+	17	3062	c.3038C>T	c.(3037-3039)tCt>tTt	p.S1013F	TRIO_ENST00000537187.1_Missense_Mutation_p.S1013F|TRIO_ENST00000509967.2_Missense_Mutation_p.S964F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1013					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTCAACGCCTCTGTCGCTTTC	0.502													28	48					0	0	0	0	T	14368980	C	T	14368980	3	4	348	1	0	0	0	0	1	0	0	0	16647	913	32	2	3104	2	TRIO	5	14368980	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	13330533	14368980	166546280	72	65798											
NIPBL	25836	broad.mit.edu	37	chr5	37049397	37049397	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaaggtcttattcatccAgttcaggtaagcatgtttta	12	15	7	7	0	4	0	3	0	1	0	5	0	5	0	1	2	1	4	1	2	5	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:37049397A>G	ENST00000282516.8	+	40	7447	c.6948A>G	c.(6946-6948)ccA>ccG	p.P2316P	NIPBL_ENST00000448238.2_Silent_p.P2316P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2316					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTATTCATCCAGTTCAGGTAA	0.373													10	225					0	0	0	0	G	37049397	A	G	37049397	2	3	348	1	0	0	0	0	0	0	0	1	10498	175	7	5		5	NIPBL	5	37049397	Silent	SNP	A	TCGA-CV-A6JM-01A-11D-A31L-08	22680417	37049397	143865863	73	65799											
SLC38A9	153129	broad.mit.edu	37	chr5	54960600	54960600	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctccaatgagagacacCaaggagaaaaggagactcga	17	5	11	8	1	0	4	0	1	0	3	2	8	1	4	2	2	1	1	2	2	4	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:54960600C>G	ENST00000539768.1	-	6	617	c.618G>C	c.(616-618)ttG>ttC	p.L206F	SLC38A9_ENST00000396865.2_Missense_Mutation_p.L206F|SLC38A9_ENST00000318672.3_Missense_Mutation_p.L206F|SLC38A9_ENST00000515629.1_Missense_Mutation_p.L143F|SLC38A9_ENST00000416547.2_Missense_Mutation_p.L82F|SLC38A9_ENST00000512595.1_Missense_Mutation_p.L179F			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	206					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TGAGAGACACCAAGGAGAAAA	0.373													7	51					0	0	0	0	G	54960600	C	G	54960600	3	3	348	1	0	0	0	0	1	0	0	0	14699	593	21	4	1103	4	SLC38A9	5	54960600	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	17911203	54960600	125954660	74	65800											
SPOCK1	6695	broad.mit.edu	37	chr5	136324223	136324223	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctcgtacttatccaggtaGatggcattgatctctgaagg	9	12	12	8	1	1	3	0	2	1	1	4	3	2	3	1	4	1	4	1	4	4	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:136324223G>A	ENST00000394945.1	-	8	985	c.816C>T	c.(814-816)atC>atT	p.I272I	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Silent_p.I272I	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	272					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATCCAGGTAGATGGCATTGA	0.493													22	59					0	0	0	0	A	136324223	G	A	136324223	2	1	348	1	0	0	0	0	0	0	0	1	15169	932	33	2		2	SPOCK1	5	136324223	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	81363623	136324223	44591037	75	65801											
PCDHA8	56140	broad.mit.edu	37	chr5	140222595	140222595	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgagaatgacaacgcgccGgcactgctggagcctcgggt	9	5	15	12	5	0	2	0	1	0	1	1	5	0	3	2	3	3	2	2	3	2	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:140222595G>A	ENST00000531613.1	+	1	1689	c.1689G>A	c.(1687-1689)ccG>ccA	p.P563P	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.P563P|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACGCGCCGGCACTGCTGG	0.706													7	97					0	0	0	0	A	140222595	G	A	140222595	2	1	348	1	0	0	0	0	0	0	0	1	11601	1103	39	1		1	PCDHA8	5	140222595	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	3898372	140222595	40692665	76	65802											
PCDHAC1	56135	broad.mit.edu	37	chr5	140306685	140306685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctctacttcggggtggatCtacccagcggcaatttggtg	7	11	13	10	2	2	0	0	0	2	0	3	1	2	1	1	5	4	2	1	5	3	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:140306685C>G	ENST00000253807.2	+	1	208	c.208C>G	c.(208-210)Cta>Gta	p.L70V	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.L70V|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGGTGGATCTACCCAGCGG	0.627													15	40					0	0	0	0	G	140306685	C	G	140306685	3	3	348	1	0	0	0	0	1	0	0	0	11603	912	32	2	210	2	PCDHAC1	5	140306685	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	84090	140306685	40608575	77	65803											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745446	140745446	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaccggtgtcctgtatgctCtgagatccttcgactatgag	8	12	10	11	2	1	2	0	2	1	1	4	4	3	2	3	1	1	2	3	1	2	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:140745446C>T	ENST00000518069.1	+	1	1549	c.1549C>T	c.(1549-1551)Ctg>Ttg	p.L517L	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTATGCTCTGAGATCCTT	0.547													66	163					0	0	0	0	T	140745446	C	T	140745446	2	4	348	1	0	0	0	0	0	0	0	1	11628	912	32	2		2	PCDHGA5	5	140745446	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	438761	140745446	40169814	78	65804											
KIF4B	285643	broad.mit.edu	37	chr5	154396309	154396309	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagctggtgagcacactgCagtgtcaggatgaagaactt	13	8	12	8	0	1	3	1	2	0	1	1	4	1	4	0	2	5	3	0	2	3	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396309C>A	ENST00000435029.4	+	1	3050	c.2890C>A	c.(2890-2892)Cag>Aag	p.Q964K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	964	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGCACACTGCAGTGTCAGGA	0.468													6	91					0.00621372	0.0062757	1	0	A	154396309	C	A	154396309	3	1	348	1	0	0	0	0	1	0	0	0	8355	711	25	4	2892	4	KIF4B	5	154396309	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	13650863	154396309	26518951	79	65805			2	102		13	12	588	N	T_G_C_A	8.99391e-33
KIF4B	285643	broad.mit.edu	37	chr5	154396373	154396373	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaatcagcagcttctccAagagaatgaaatcatcaagc	17	7	7	10	0	4	2	3	1	1	1	5	3	4	2	1	0	3	3	1	0	6	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396373A>G	ENST00000435029.4	+	1	3114	c.2954A>G	c.(2953-2955)cAa>cGa	p.Q985R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	985	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCTTCTCCAAGAGAATGAA	0.453													30	141					0	0	0	0	G	154396373	A	G	154396373	3	3	348	1	0	0	0	0	1	0	0	0	8355	130	5	5	2956	5	KIF4B	5	154396373	Missense_Mutation	SNP	A	TCGA-CV-A6JM-01A-11D-A31L-08	64	154396373	26518887	80	65806			2	102		13	12	588	N	T_G_C_A	8.99391e-33
KIF4B	285643	broad.mit.edu	37	chr5	154396403	154396403	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcatcaagcagaaactgaTcctcctccaggtagccagca	14	7	7	13	0	2	2	2	1	0	1	5	2	5	2	4	1	4	3	4	1	4	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396403T>C	ENST00000435029.4	+	1	3144	c.2984T>C	c.(2983-2985)aTc>aCc	p.I995T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	995	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGAAACTGATCCTCCTCCAG	0.433													37	157					0	0	0	0	C	154396403	T	C	154396403	3	2	348	1	0	0	0	0	1	0	0	0	8355	1435	50	5	2986	5	KIF4B	5	154396403	Missense_Mutation	SNP	T	TCGA-CV-A6JM-01A-11D-A31L-08	30	154396403	26518857	81	65807			2	102		13	12	588	N	T_G_C_A	8.99391e-33
KIF4B	285643	broad.mit.edu	37	chr5	154396443	154396443	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagaaacatcttcctaaTgatacccttctatctccaga	14	11	4	12	0	3	4	0	1	3	3	5	4	4	4	3	0	2	0	3	0	4	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396443T>G	ENST00000435029.4	+	1	3184	c.3024T>G	c.(3022-3024)aaT>aaG	p.N1008K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1008	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATCTTCCTAATGATACCCTTC	0.423													31	152					0	0	0	0	G	154396443	T	G	154396443	3	3	348	1	0	0	0	0	1	0	0	0	8355	1461	51	5	3026	5	KIF4B	5	154396443	Missense_Mutation	SNP	T	TCGA-CV-A6JM-01A-11D-A31L-08	40	154396443	26518817	82	65808			2	102		13	12	588	N	T_G_C_A	8.99391e-33
KIF4B	285643	broad.mit.edu	37	chr5	154396480	154396480	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagactcttcttttgaatatAtcccacctaagccaaaacct	13	12	3	13	0	2	2	0	1	2	1	3	2	3	2	4	0	2	0	4	0	6	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396480A>G	ENST00000435029.4	+	1	3221	c.3061A>G	c.(3061-3063)Atc>Gtc	p.I1021V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1021	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTTGAATATATCCCACCTAA	0.403													36	122					0	0	0	0	G	154396480	A	G	154396480	3	3	348	1	0	0	0	0	1	0	0	0	8355	449	16	5	3063	5	KIF4B	5	154396480	Missense_Mutation	SNP	A	TCGA-CV-A6JM-01A-11D-A31L-08	37	154396480	26518780	83	65809			2	102		13	12	588	N	T_G_C_A	8.99391e-33
KIF4B	285643	broad.mit.edu	37	chr5	154396521	154396521	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtgttaaagaaaagttTctggagcaaagcatggacat	14	11	10	6	1	2	1	0	0	2	1	3	3	2	3	0	2	2	4	0	2	5	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396521T>C	ENST00000435029.4	+	1	3262	c.3102T>C	c.(3100-3102)ttT>ttC	p.F1034F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1034	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGAAAAGTTTCTGGAGCAAA	0.423													28	88					0	0	0	0	C	154396521	T	C	154396521	2	2	348	1	0	0	0	0	0	0	0	1	8355	1780	62	5		5	KIF4B	5	154396521	Silent	SNP	T	TCGA-CV-A6JM-01A-11D-A31L-08	41	154396521	26518739	84	65810			2	102		13	12	588	N	T_G_C_A	8.99391e-33
KIF4B	285643	broad.mit.edu	37	chr5	154396626	154396626	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtgatgagggggatgaTgaggaatggaagccaacaaa	16	5	16	4	0	0	4	0	4	0	0	0	8	0	7	1	4	2	0	1	4	4	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396626T>C	ENST00000435029.4	+	1	3367	c.3207T>C	c.(3205-3207)gaT>gaC	p.D1069D		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1069	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGGGGGATGATGAGGAATGGA	0.483													6	31					0	0	0	0	C	154396626	T	C	154396626	2	2	348	1	0	0	0	0	0	0	0	1	8355	1461	51	5		5	KIF4B	5	154396626	Silent	SNP	T	TCGA-CV-A6JM-01A-11D-A31L-08	105	154396626	26518634	85	65811			2	102		13	12	588	N	T_G_C_A	8.99391e-33
KIF4B	285643	broad.mit.edu	37	chr5	154396653	154396653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagccaacaaaattagtCaaggtgtccaggaagaacat	17	7	10	7	0	1	1	1	0	0	1	2	3	2	3	2	3	3	0	2	3	8	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396653C>T	ENST00000435029.4	+	1	3394	c.3234C>T	c.(3232-3234)gtC>gtT	p.V1078V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1078	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAAAATTAGTCAAGGTGTCCA	0.488													8	28					0	0	0	0	T	154396653	C	T	154396653	2	4	348	1	0	0	0	0	0	0	0	1	8355	813	29	2		2	KIF4B	5	154396653	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	27	154396653	26518607	86	65812			2	102		13	12	588	N	T_G_C_A	8.99391e-33
KIF4B	285643	broad.mit.edu	37	chr5	154396704	154396704	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctgcaagggctggtgtggGaacaagcagtgtgggtgcag	8	8	18	7	0	0	0	0	0	0	0	1	1	1	1	1	4	4	4	1	4	3	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396704G>A	ENST00000435029.4	+	1	3445	c.3285G>A	c.(3283-3285)ggG>ggA	p.G1095G		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1095	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTGGTGTGGGAACAAGCAGT	0.532													9	34					0	0	0	0	A	154396704	G	A	154396704	2	1	348	1	0	0	0	0	0	0	0	1	8355	1161	41	2		2	KIF4B	5	154396704	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	51	154396704	26518556	87	65813			2	102		13	12	588	N	T_G_C_A	8.99391e-33
KIF4B	285643	broad.mit.edu	37	chr5	154396756	154396756	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagactgtggtgtggactgtAgctgtgaccccacaaagtgt	9	10	13	9	0	0	2	0	1	0	1	0	3	0	3	2	2	1	2	2	2	2	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396756A>T	ENST00000435029.4	+	1	3497	c.3337A>T	c.(3337-3339)Agc>Tgc	p.S1113C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1113	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGTGGACTGTAGCTGTGACCC	0.552													14	56					0	0	0	0	T	154396756	A	T	154396756	3	4	348	1	0	0	0	0	1	0	0	0	8355	420	15	5	3339	5	KIF4B	5	154396756	Missense_Mutation	SNP	A	TCGA-CV-A6JM-01A-11D-A31L-08	52	154396756	26518504	88	65814			2	102		13	12	588	N	T_G_C_A	8.99391e-33
KIF4B	285643	broad.mit.edu	37	chr5	154396820	154396820	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcttgggcactgttgaacAgacccaggattccgaaggct	10	9	12	10	1	0	2	0	1	0	1	1	4	1	3	2	3	2	4	2	3	3	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396820A>G	ENST00000435029.4	+	1	3561	c.3401A>G	c.(3400-3402)cAg>cGg	p.Q1134R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1134	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGTTGAACAGACCCAGGAT	0.542													22	60					0	0	0	0	G	154396820	A	G	154396820	3	3	348	1	0	0	0	0	1	0	0	0	8355	188	7	5	3403	5	KIF4B	5	154396820	Missense_Mutation	SNP	A	TCGA-CV-A6JM-01A-11D-A31L-08	64	154396820	26518440	89	65815			2	102		13	12	588	N	T_G_C_A	8.99391e-33
KIF4B	285643	broad.mit.edu	37	chr5	154396893	154396893	+	Silent	SNP	C	C	T																															ccaggattgagcttctttaaCcctgtctgtgccacccccaa																										TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396893C>T	ENST00000435029.4	+	1	3634	c.3474C>T	c.(3472-3474)aaC>aaT	p.N1158N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1158	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTTCTTTAACCCTGTCTGTG	0.532													5	66					0	0	0	0	T	154396893	C	T	154396893	2	4	348	1	0	0	0	0	0	0	0	1	8355	506	18	4		4	KIF4B	5	154396893	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	73	154396893	26518367	90	65816	816	2	2	102		13	12	588	N	T_G_C_A	8.99391e-33
KIF4B	285643	broad.mit.edu	37	chr5	154396896	154396896	+	Silent	SNP	T	T	C																															ggattgagcttctttaacccTgtctgtgccacccccaatag																										TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:154396896T>C	ENST00000435029.4	+	1	3637	c.3477T>C	c.(3475-3477)ccT>ccC	p.P1159P		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1159	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTTTAACCCTGTCTGTGCCA	0.532													5	65					0	0	0	0	C	154396896	T	C	154396896	2	2	348	1	0	0	0	0	0	0	0	1	8355	1567	55	5		5	KIF4B	5	154396896	Silent	SNP	T	TCGA-CV-A6JM-01A-11D-A31L-08	3	154396896	26518364	91	65817	816	2	2	102		13	12	588	N	T_G_C_A	8.99391e-33
PROP1	5626	broad.mit.edu	37	chr5	177420034	177420034	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccgttgcttagctctgcgGttctggaaccagacctgaga	7	12	11	11	2	2	2	0	1	2	2	3	4	3	3	3	2	4	4	3	2	2	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr5:177420034G>A	ENST00000308304.2	-	3	665	c.357C>T	c.(355-357)aaC>aaT	p.N119N		NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	119					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGCTCTGCGGTTCTGGAACC	0.562													8	13					0	0	0	0	A	177420034	G	A	177420034	2	1	348	1	0	0	0	0	0	0	0	1	12637	1252	44	4		4	PROP1	5	177420034	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	23023138	177420034	3495226	92	65818											
SCAND3	114821	broad.mit.edu	37	chr6	28543539	28543539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgtccaatgctgagatGtgtattatgcagaatgtcaa	13	12	9	7	0	1	2	1	1	0	2	2	3	2	2	2	0	2	3	2	0	5	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:28543539G>A	ENST00000452236.2	-	3	1560	c.943C>T	c.(943-945)Cat>Tat	p.H315Y		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	315					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGCTGAGATGTGTATTATGC	0.383													81	45					0	0	0	0	A	28543539	G	A	28543539	3	1	348	1	0	0	0	0	1	0	0	0	13962	1377	48	4	3042	4	SCAND3	6	28543539	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08		28543539	142571528	93	65819											
SKIV2L	6499	broad.mit.edu	37	chr6	31931238	31931238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attagcactgtaacccgcccCgtgcccctggagcactatct	8	9	8	16	2	1	0	0	0	1	0	1	1	1	1	5	1	4	3	5	1	3	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:31931238C>T	ENST00000375394.2	+	14	1565	c.1452C>T	c.(1450-1452)ccC>ccT	p.P484P	SKIV2L_ENST00000544581.1_Silent_p.P291P	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	484						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TAACCCGCCCCGTGCCCCTGG	0.567													30	31					0	0	0	0	T	31931238	C	T	31931238	2	4	348	1	0	0	0	0	0	0	0	1	14447	639	23	1		1	SKIV2L	6	31931238	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	3387699	31931238	139183829	94	65820											
ITPR3	3710	broad.mit.edu	37	chr6	33659398	33659398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catatcccctccagccagccCcctggggatgccacatggag	8	6	10	17	0	0	0	0	0	0	0	2	2	2	2	7	3	3	0	7	3	1	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:33659398C>A	ENST00000374316.5	+	54	8292	c.7232C>A	c.(7231-7233)cCc>cAc	p.P2411H	ITPR3_ENST00000605930.1_Missense_Mutation_p.P2411H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2411					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCAGCCAGCCCCCTGGGGATG	0.597													24	15					5.35356e-11	5.70577e-11	1	0	A	33659398	C	A	33659398	3	1	348	1	0	0	0	0	1	0	0	0	7975	623	22	4	7442	4	ITPR3	6	33659398	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1728160	33659398	137455669	95	65821											
MAD2L1BP	9587	broad.mit.edu	37	chr6	43604139	43604139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttggagtggtatgagaagtCcgaagaaactcacgcctccc	11	9	11	10	2	1	2	1	1	0	2	3	5	3	3	3	2	1	1	3	2	4	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:43604139C>T	ENST00000451025.2	+	3	374	c.164C>T	c.(163-165)tCc>tTc	p.S55F	MAD2L1BP_ENST00000508232.1_3'UTR|MAD2L1BP_ENST00000372171.4_Missense_Mutation_p.S23F	NM_001003690.1	NP_001003690.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	23	Interaction with MAD2L1.				mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding			breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TATGAGAAGTCCGAAGAAACT	0.473													16	35					0	0	0	0	T	43604139	C	T	43604139	3	4	348	1	0	0	0	0	1	0	0	0	9214	855	30	2	224	2	MAD2L1BP	6	43604139	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	9944741	43604139	127510928	96	65822											
LCA5	167691	broad.mit.edu	37	chr6	80223093	80223093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtatcttttacccttttctCagttgcccgttctttctctt	3	22	4	12	1	4	0	1	0	4	0	6	0	4	0	2	0	2	3	2	0	2	9			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:80223093C>T	ENST00000392959.1	-	4	1167	c.556G>A	c.(556-558)Gag>Aag	p.E186K	LCA5_ENST00000369846.4_Missense_Mutation_p.E186K|LCA5_ENST00000467898.2_Missense_Mutation_p.E186K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	186					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ACCCTTTTCTCAGTTGCCCGT	0.363													6	33					0	0	0	0	T	80223093	C	T	80223093	3	4	348	1	0	0	0	0	1	0	0	0	8709	835	29	2	1561	2	LCA5	6	80223093	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	36618954	80223093	90891974	97	65823											
ZNF292	23036	broad.mit.edu	37	chr6	87970506	87970506	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcagatttgtaacccagtatCcatgtatgataaagggatgt	13	12	10	6	0	0	2	0	1	0	1	1	3	1	3	2	1	1	4	2	1	5	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:87970506C>G	ENST00000369577.3	+	8	7202	c.7159C>G	c.(7159-7161)Cca>Gca	p.P2387A	ZNF292_ENST00000339907.4_Missense_Mutation_p.P2382A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACCCAGTATCCATGTATGAT	0.343													8	21					0	0	0	0	G	87970506	C	G	87970506	3	3	348	1	0	0	0	0	1	0	0	0	17921	855	30	2	7189	2	ZNF292	6	87970506	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	7747413	87970506	83144561	98	65824											
COQ3	51805	broad.mit.edu	37	chr6	99817632	99817632	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttaaggctggtattttcactCcaatgccagtaacctgagaa	12	12	8	9	0	1	1	1	1	0	1	2	2	2	1	3	2	2	3	3	2	5	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:99817632C>T	ENST00000254759.3	-	7	978	c.954G>A	c.(952-954)tgG>tgA	p.W318*	COQ3_ENST00000369242.1_Nonsense_Mutation_p.W90*|COQ3_ENST00000369240.1_Nonsense_Mutation_p.W90*	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	318					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TATTTTCACTCCAATGCCAGT	0.408													62	67					0	0	0	0	T	99817632	C	T	99817632	4	4	348	1	0	0	0	0	0	1	0	0	3776	856	30	2	159	2	COQ3	6	99817632	Nonsense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	11847126	99817632	71297435	99	65825											
FIG4	9896	broad.mit.edu	37	chr6	110112691	110112691	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaggatgactctgggactGatcgggaagaagagggctct	10	8	16	7	1	2	5	0	3	2	2	3	8	2	8	0	4	0	1	0	4	2	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:110112691G>C	ENST00000230124.3	+	20	2417	c.2293G>C	c.(2293-2295)Gat>Cat	p.D765H	FIG4_ENST00000441478.2_Missense_Mutation_p.D488H	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	765					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CTCTGGGACTGATCGGGAAGA	0.612													51	67					0	0	0	0	C	110112691	G	C	110112691	3	2	348	1	0	0	0	0	1	0	0	0	5933	1290	45	2	2371	2	FIG4	6	110112691	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	10295059	110112691	61002376	100	65826											
AMD1	262	broad.mit.edu	37	chr6	111210139	111210139	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttgctgaaagcactggttCccctgttgaagcttgctagg	7	13	11	10	0	1	2	0	2	1	0	2	2	2	2	2	2	4	6	2	2	3	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:111210139C>A	ENST00000368885.3	+	3	613	c.277C>A	c.(277-279)Ccc>Acc	p.P93T	AMD1_ENST00000368882.3_Intron|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368876.1_Missense_Mutation_p.P24T|AMD1_ENST00000368877.5_Missense_Mutation_p.P64T	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	93					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	AGCACTGGTTCCCCTGTTGAA	0.393													46	48					2.84425e-11	3.03937e-11	1	0	A	111210139	C	A	111210139	3	1	348	1	0	0	0	0	1	0	0	0	566	855	30	2	287	2	AMD1	6	111210139	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1097448	111210139	59904928	101	65827											
AMD1	262	broad.mit.edu	37	chr6	111210179	111210179	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggattacagtgggtttgactCaattcaagtaagtaagcaaa	15	11	10	5	0	2	1	2	1	0	0	2	2	2	2	0	2	2	4	0	2	6	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:111210179C>G	ENST00000368885.3	+	3	653	c.317C>G	c.(316-318)tCa>tGa	p.S106*	AMD1_ENST00000368882.3_Intron|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368876.1_Nonsense_Mutation_p.S37*|AMD1_ENST00000368877.5_Nonsense_Mutation_p.S77*	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	106					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GGGTTTGACTCAATTCAAGTA	0.368													38	48					0	0	0	0	G	111210179	C	G	111210179	4	3	348	1	0	0	0	0	0	1	0	0	566	838	29	2	327	2	AMD1	6	111210179	Nonsense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	40	111210179	59904888	102	65828											
GRM1	2911	broad.mit.edu	37	chr6	146351107	146351107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccctccccccaggcaggActaagaagcccattgcggga	10	5	11	15	1	0	1	0	0	0	1	2	3	2	3	5	3	2	1	5	3	2	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:146351107A>G	ENST00000392299.2	+	2	924	c.454A>G	c.(454-456)Act>Gct	p.T152A	GRM1_ENST00000492807.2_Missense_Mutation_p.T152A|GRM1_ENST00000507907.1_Missense_Mutation_p.T152A|GRM1_ENST00000282753.1_Missense_Mutation_p.T152A|GRM1_ENST00000361719.2_Missense_Mutation_p.T152A|GRM1_ENST00000355289.4_Missense_Mutation_p.T152A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	152					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCAGGCAGGACTAAGAAGCC	0.562													74	30					0	0	0	0	G	146351107	A	G	146351107	3	3	348	1	0	0	0	0	1	0	0	0	6846	275	10	5	456	5	GRM1	6	146351107	Missense_Mutation	SNP	A	TCGA-CV-A6JM-01A-11D-A31L-08	35140928	146351107	24763960	103	65829											
RNASET2	8635	broad.mit.edu	37	chr6	167344565	167344565	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcactggattttgggtatCactccatatactctggcaag	10	12	10	9	0	2	0	1	0	1	0	3	1	3	1	1	4	1	3	1	4	4	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr6:167344565C>A	ENST00000366855.6	-	9	1095	c.420G>T	c.(418-420)gtG>gtT	p.V140V	RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Silent_p.V178V|RNASET2_ENST00000508775.1_Silent_p.V178V			O00584	RNT2_HUMAN	ribonuclease T2	178					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TTTTGGGTATCACTCCATATA	0.373													35	100					2.09667e-21	2.31376e-21	1	0	A	167344565	C	A	167344565	2	1	348	1	0	0	0	0	0	0	0	1	13503	813	29	2		2	RNASET2	6	167344565	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	20993458	167344565	3770502	104	65830											
FSCN1	6624	broad.mit.edu	37	chr7	5644943	5644943	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggtgggcagtgactccgcGgtcaccagcagcggcgacac	8	4	15	14	5	1	1	1	1	0	0	2	2	2	1	2	4	2	2	2	4	0	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:5644943G>A	ENST00000382361.3	+	5	1434	c.1320G>A	c.(1318-1320)gcG>gcA	p.A440A	FSCN1_ENST00000340250.6_Silent_p.A419A	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	440				A -> V (in Ref. 8; AAH06304).	actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GTGACTCCGCGGTCACCAGCA	0.622													26	88					0	0	0	0	A	5644943	G	A	5644943	2	1	348	1	0	0	0	0	0	0	0	1	6115	1103	39	1		1	FSCN1	7	5644943	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08		5644943	153493720	105	65831											
SCIN	85477	broad.mit.edu	37	chr7	12662468	12662468	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccagatggaggtgatgatGatgacattatagcagacata	14	11	11	5	0	0	6	0	4	0	2	1	7	1	7	1	2	1	1	1	2	3	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:12662468G>A	ENST00000519209.1	+	0	334				SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000445618.2_De_novo_Start_OutOfFrame|SCIN_ENST00000297029.5_Missense_Mutation_p.D237N	NM_033128.3	NP_149119.1	Q9Y6U3	ADSV_HUMAN	scinderin						actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AGGTGATGATGATGACATTAT	0.403													41	133					0	0	0	0	A	12662468	G	A	12662468	1	1	348	1	0	0	0	0	0	0	0	0	13992	1290	45	2		2	SCIN	7	12662468	Translation_Start_Site	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	7017525	12662468	146476195	106	65832											
C7orf10	79783	broad.mit.edu	37	chr7	40498797	40498797	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattaaaatattatctgaacGgtaagtttggatgttgtatt	13	18	8	2	1	1	1	0	1	1	0	1	2	1	2	0	2	1	4	0	2	8	9			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:40498797G>T	ENST00000309930.5	+	11	1031	c.1007_splice	c.e11+1	p.R336_splice	C7orf10_ENST00000401647.2_Splice_Site_p.R288_splice|C7orf10_ENST00000335693.4_Splice_Site_p.R336_splice	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	336			R -> W (in GA3; healthy individuals who have abnormal quantities of glutaric acid but low 3-hydroxyglutaric acid).				transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTATCTGAACGGTAAGTTTGG	0.294													7	36					2.0095e-06	2.09215e-06	1	0	T	40498797	G	T	40498797	5	4	348	1	0	0	0	0	0	0	1	0	2399	1130	39	3	938	3	C7orf10	7	40498797	Splice_Site	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	27836329	40498797	118639866	107	65833											
SRRM3	222183	broad.mit.edu	37	chr7	75894108	75894119	+	In_Frame_Del	DEL	AAAGAGAAGAAC	AAAGAGAAGAAC	-																															gaagctccaagtgcaaaagaAaagagaagaacaaagagaag																										TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:75894108_75894119delAAAGAGAAGAAC	ENST00000388802.4	+	9	909_920	c.700_711delAAAGAGAAGAAC	c.(700-711)del	p.KEKN234del	SRRM3_ENST00000326382.8_In_Frame_Del_p.KEKN234del					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GTGCAAAAGAAAAGAGAAGAACAAAGAgaaga	0.557													7	67	---	---	---	---					-	75894119	AAAGAGAAGAAC	-	75894108	7	5	348	1	0	1	0	1	0	0	0	0	15260	15	1	0	730	0	SRRM3	7	75894108	In_Frame_Del	DEL	AAAGAGAAGAAC	TCGA-CV-A6JM-01A-11D-A31L-08	35395311	75894108	83244555	108	65834											
CFTR	1080	broad.mit.edu	37	chr7	117176710	117176710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaagcaatggaaaaaatGattgaaaacttaagacagta	22	7	9	3	0	0	4	0	2	0	2	0	6	0	5	0	1	2	2	0	1	10	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:117176710G>A	ENST00000003084.6	+	7	984	c.852G>A	c.(850-852)atG>atA	p.M284I	CFTR_ENST00000454343.1_Missense_Mutation_p.M284I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	284	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGAAAAAATGATTGAAAACT	0.318									Cystic Fibrosis				11	9					0	0	0	0	A	117176710	G	A	117176710	3	1	348	1	0	0	0	0	1	0	0	0	3323	1290	45	2	878	2	CFTR	7	117176710	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	41282602	117176710	41961953	109	65835											
KEL	3792	broad.mit.edu	37	chr7	142638423	142638423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaaggctggggtgctgctGaggggcccgtggactcggag	6	6	20	9	2	0	1	0	1	0	0	1	3	0	3	1	7	2	4	1	7	1	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:142638423G>A	ENST00000355265.2	-	19	2589	c.2115C>T	c.(2113-2115)ctC>ctT	p.L705L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	705					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGTGCTGCTGAGGGGCCCGT	0.597													56	54					0	0	0	0	A	142638423	G	A	142638423	2	1	348	1	0	0	0	0	0	0	0	1	8194	1277	45	2		2	KEL	7	142638423	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	25461713	142638423	16500240	110	65836											
CASP2	835	broad.mit.edu	37	chr7	142989429	142989429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccagaatgtggaactcCtcaacttgctgcctaagagg	11	9	10	11	0	2	2	2	0	0	2	3	3	3	3	3	2	5	1	3	2	4	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr7:142989429C>T	ENST00000310447.5	+	3	503	c.262C>T	c.(262-264)Ctc>Ttc	p.L88F	CASP2_ENST00000493642.1_3'UTR|CASP2_ENST00000392925.2_Missense_Mutation_p.L88F	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	88	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TGTGGAACTCCTCAACTTGCT	0.458													44	42					0	0	0	0	T	142989429	C	T	142989429	3	4	348	1	0	0	0	0	1	0	0	0	2696	681	24	4	272	4	CASP2	7	142989429	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	351006	142989429	16149234	111	65837											
KCTD9	54793	broad.mit.edu	37	chr8	25303757	25303757	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagataaagttccatataCagcaaccacctgtaaacaca	18	8	4	11	0	1	1	1	0	0	1	2	1	2	1	3	0	4	3	3	0	7	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:25303757C>A	ENST00000221200.4	-	2	278	c.58G>T	c.(58-60)Gta>Tta	p.V20L	KCTD9_ENST00000518067.1_5'UTR	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	20	KHA.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		GTTCCATATACAGCAACCACC	0.368													12	75					0.0135373	0.0136045	1	0	A	25303757	C	A	25303757	3	1	348	1	0	0	0	0	1	0	0	0	8169	478	17	4	1155	4	KCTD9	8	25303757	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08		25303757	121060265	112	65838											
ZMAT4	79698	broad.mit.edu	37	chr8	40554786	40554786	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtctttaatggggtcttCtctcctagcaagagttttaa	8	16	10	7	0	3	1	0	0	3	1	5	1	4	1	1	3	1	2	1	3	4	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:40554786C>T	ENST00000297737.6	-	4	473	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ZMAT4_ENST00000315769.7_Silent_p.E109E	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	109						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATGGGGTCTTCTCTCCTAGCA	0.512													11	122					0	0	0	0	T	40554786	C	T	40554786	2	4	348	1	0	0	0	0	0	0	0	1	17789	912	32	2		2	ZMAT4	8	40554786	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	15251029	40554786	105809236	113	65839											
GINS4	84296	broad.mit.edu	37	chr8	41394782	41394782	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggatccgctacgtcctCagcagctacttgcggtgtcg	7	9	13	12	4	1	1	1	0	0	1	4	3	3	2	2	2	5	3	2	2	2	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:41394782C>A	ENST00000523277.2	+	4	434	c.267C>A	c.(265-267)ctC>ctA	p.L89L	GINS4_ENST00000518671.1_Silent_p.L89L|GINS4_ENST00000276533.3_Silent_p.L89L|GINS4_ENST00000520710.1_Silent_p.L89L|RP11-360L9.4_ENST00000523081.1_RNA			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	89					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			GCTACGTCCTCAGCAGCTACT	0.493													15	10					1.37285e-15	1.48268e-15	1	0	A	41394782	C	A	41394782	2	1	348	1	0	0	0	0	0	0	0	1	6441	813	29	2		2	GINS4	8	41394782	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	839996	41394782	104969240	114	65840											
CLVS1	157807	broad.mit.edu	37	chr8	62289261	62289261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcttcattttaattataGactggagtaatttttccttc	10	19	6	6	0	1	1	1	0	0	1	3	2	2	2	1	2	0	2	1	2	4	9			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:62289261G>A	ENST00000519846.1	+	4	1025	c.553G>A	c.(553-555)Gac>Aac	p.D185N	CLVS1_ENST00000325897.4_Missense_Mutation_p.D185N|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	185	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTTAATTATAGACTGGAGTAA	0.423													26	79					0	0	0	0	A	62289261	G	A	62289261	3	1	348	1	0	0	0	0	1	0	0	0	3601	942	33	2	559	2	CLVS1	8	62289261	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	20894479	62289261	84074761	115	65841											
TRPA1	8989	broad.mit.edu	37	chr8	72981280	72981280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcatcacctcattattcatgCcctgcacagctatgtggaga	10	12	7	12	0	4	1	4	0	0	1	4	2	4	1	2	1	3	2	2	1	2	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:72981280C>T	ENST00000262209.4	-	3	629	c.422G>A	c.(421-423)gGc>gAc	p.G141D		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	141						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATTATTCATGCCCTGCACAGC	0.517													5	421					0	0	0	0	T	72981280	C	T	72981280	3	4	348	1	0	0	0	0	1	0	0	0	16672	739	26	4	3037	4	TRPA1	8	72981280	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	10692019	72981280	73382742	116	65842											
FABP4	2167	broad.mit.edu	37	chr8	82392784	82392784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccccattcacactgatgatCatgttaggtttggccatgcc	8	13	8	12	0	2	2	2	2	0	0	3	2	3	2	4	2	1	2	4	2	1	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:82392784C>T	ENST00000256104.4	-	2	218	c.123G>A	c.(121-123)atG>atA	p.M41I	FABP4_ENST00000518669.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	41					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			CACTGATGATCATGTTAGGTT	0.413													22	54					0	0	0	0	T	82392784	C	T	82392784	3	4	348	1	0	0	0	0	1	0	0	0	5400	826	29	2	287	2	FABP4	8	82392784	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	9411504	82392784	63971238	117	65843											
RIMS2	9699	broad.mit.edu	37	chr8	105001624	105001624	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagacatcgtgtcatggatGaccattattctccagataga	13	11	8	9	1	2	4	1	1	1	3	4	5	2	5	2	1	0	0	2	1	2	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:105001624G>C	ENST00000507740.1	+	14	2631	c.2395G>C	c.(2395-2397)Gac>Cac	p.D799H	RIMS2_ENST00000262231.10_Missense_Mutation_p.D846H|RIMS2_ENST00000406091.3_Missense_Mutation_p.D1007H|RIMS2_ENST00000436393.2_Missense_Mutation_p.D785H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1069					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTCATGGATGACCATTATTC	0.383										HNSCC(12;0.0054)			35	105					0	0	0	0	C	105001624	G	C	105001624	3	2	348	1	0	0	0	0	1	0	0	0	13453	1290	45	2	3211	2	RIMS2	8	105001624	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	22608840	105001624	41362398	118	65844											
KCNV1	27012	broad.mit.edu	37	chr8	110980398	110980398	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcagcatctccatgatactCcgggcatagacatctctcaa	11	9	7	14	2	3	2	1	1	2	1	6	2	4	2	2	1	2	3	2	1	3	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:110980398C>A	ENST00000524391.1	-	4	2454	c.1422G>T	c.(1420-1422)cgG>cgT	p.R474R	KCNV1_ENST00000297404.1_Silent_p.R474R			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	474						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCATGATACTCCGGGCATAGA	0.423													42	28					8.16277e-20	8.95914e-20	1	0	A	110980398	C	A	110980398	2	1	348	1	0	0	0	0	0	0	0	1	8147	842	30	2		2	KCNV1	8	110980398	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	5978774	110980398	35383624	119	65845											
CSMD3	114788	broad.mit.edu	37	chr8	113349834	113349834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtgaaggcatgtgagagctGaatttccaattaatgtgtat	12	13	11	5	1	0	3	0	3	0	1	1	4	1	3	1	1	1	3	1	1	5	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:113349834G>A	ENST00000297405.5	-	43	7023	c.6779C>T	c.(6778-6780)tCa>tTa	p.S2260L	CSMD3_ENST00000352409.3_Missense_Mutation_p.S2190L|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2156L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2220L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2260	Sushi 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGAGAGCTGAATTTCCAAT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			35	82					0	0	0	0	A	113349834	G	A	113349834	3	1	348	1	0	0	0	0	1	0	0	0	3978	1294	45	2	4460	2	CSMD3	8	113349834	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2369436	113349834	33014188	120	65846											
EXT1	2131	broad.mit.edu	37	chr8	119123066	119123066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aatgtgcacgctggaatcctCgttttccaattgatcccaag	10	12	8	11	2	0	1	0	1	0	0	4	2	3	2	3	1	1	3	3	1	4	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:119123066C>G	ENST00000378204.2	-	1	1026	c.220G>C	c.(220-222)Gag>Cag	p.E74Q		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	74					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTGGAATCCTCGTTTTCCAAT	0.577			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				34	120					0	0	0	0	G	119123066	C	G	119123066	3	3	348	1	0	0	0	0	1	0	0	0	5361	893	31	3	2064	3	EXT1	8	119123066	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	5773232	119123066	27240956	121	65847											
KLHL38	340359	broad.mit.edu	37	chr8	124664957	124664957	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgcactttggcttcactCttctcccggaagctgctgca	6	12	9	14	1	3	0	1	0	2	0	4	1	3	1	1	2	5	6	1	2	1	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:124664957C>T	ENST00000325995.7	-	1	233	c.210G>A	c.(208-210)aaG>aaA	p.K70K	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	70	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGGCTTCACTCTTCTCCCGGA	0.597													43	94					0	0	0	0	T	124664957	C	T	124664957	2	4	348	1	0	0	0	0	0	0	0	1	8442	912	32	2		2	KLHL38	8	124664957	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	5541891	124664957	21699065	122	65848											
ADCY8	114	broad.mit.edu	37	chr8	131792943	131792943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccttcacatagatctcccctCggtaatcaaaggcaaagccc	12	8	6	15	1	3	1	2	0	1	1	5	1	3	1	4	2	1	2	4	2	4	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:131792943C>G	ENST00000286355.5	-	18	5541	c.3449G>C	c.(3448-3450)cGa>cCa	p.R1150P	ADCY8_ENST00000377928.3_Missense_Mutation_p.R1019P	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1150					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GATCTCCCCTCGGTAATCAAA	0.517										HNSCC(32;0.087)			80	180					0	0	0	0	G	131792943	C	G	131792943	3	3	348	1	0	0	0	0	1	0	0	0	300	884	31	3	310	3	ADCY8	8	131792943	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	7127986	131792943	14571079	123	65849											
GLI4	2738	broad.mit.edu	37	chr8	144358465	144358465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagcgcatccacacgggcGagaagccctacgcctgccac	10	3	10	18	4	0	1	0	0	0	1	1	2	1	1	5	1	4	1	5	1	2	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:144358465G>A	ENST00000340042.1	+	4	707	c.622G>A	c.(622-624)Gag>Aag	p.E208K	GLI4_ENST00000523522.1_Missense_Mutation_p.E208K|ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000523812.1_3'UTR	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	208						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CCACACGGGCGAGAAGCCCTA	0.672													10	51					0	0	0	0	A	144358465	G	A	144358465	3	1	348	1	0	0	0	0	1	0	0	0	6491	1059	37	1	632	1	GLI4	8	144358465	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	12565522	144358465	2005557	124	65850											
PLEC	5339	broad.mit.edu	37	chr8	145001638	145001638	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccagcggcatggcctggatCtgctcctgccgccgcctggc	3	7	14	17	3	1	0	0	0	1	0	2	1	2	1	6	4	3	2	6	4	0	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr8:145001638C>G	ENST00000322810.4	-	27	4276	c.4107G>C	c.(4105-4107)caG>caC	p.Q1369H	PLEC_ENST00000345136.3_Missense_Mutation_p.Q1232H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q1236H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q1200H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q1218H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q1259H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q1210H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q1255H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q1232H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1369	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGCCTGGATCTGCTCCTGCC	0.731													7	35					0	0	0	0	G	145001638	C	G	145001638	3	3	348	1	0	0	0	0	1	0	0	0	12124	912	32	2	9971	2	PLEC	8	145001638	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	643173	145001638	1362384	125	65851											
BNC2	54796	broad.mit.edu	37	chr9	16552615	16552615	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcttgcttcaggacgctGaagagacggtccagcaggat	9	9	12	11	2	2	2	1	1	1	1	4	5	4	4	2	3	2	3	2	3	1	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:16552615G>A	ENST00000380672.4	-	5	639	c.582C>T	c.(580-582)ttC>ttT	p.F194F	BNC2_ENST00000545497.1_Silent_p.F99F|BNC2_ENST00000380666.2_Silent_p.F194F|BNC2_ENST00000380667.2_Silent_p.F127F	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCAGGACGCTGAAGAGACGGT	0.552													20	25					0	0	0	0	A	16552615	G	A	16552615	2	1	348	1	0	0	0	0	0	0	0	1	1480	1281	45	2		2	BNC2	9	16552615	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08		16552615	124660816	126	65852											
CDKN2A	1029	broad.mit.edu	37	chr9	21971107	21971107	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccctcccgggcagcgTcgtgcacgggtcgggtgaga	6	5	18	12	5	0	1	0	1	0	1	3	3	1	2	2	4	3	2	2	4	1	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:21971107T>C	ENST00000304494.5	-	2	521	c.251A>G	c.(250-252)gAc>gGc	p.D84G	CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33G|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33G|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33G|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33G|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84G|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33G|CDKN2A_ENST00000361570.3_Silent_p.R139R|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84G|CDKN2A_ENST00000530628.2_Silent_p.R98R|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84G|CDKN2A_ENST00000579755.1_Silent_p.R98R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	84			D -> E (in a bladder tumor).|D -> H (in non-small cell lung carcinoma).|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> Y (in CMM2; also found in a lung and a prostate tumor; dbSNP:rs11552822).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D84V(6)|p.D84G(2)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)|p.R139R(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGGGCAGCGTCGTGCACGGG	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	12					0	0	0	0	C	21971107	T	C	21971107	3	2	348	1	0	0	0	0	1	0	0	0	3190	1667	58	5	227	5	CDKN2A	9	21971107	Missense_Mutation	SNP	T	TCGA-CV-A6JM-01A-11D-A31L-08	5418492	21971107	119242324	127	65853											
DNAJA1	3301	broad.mit.edu	37	chr9	33038869	33038869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgaggatgatgaacatcatCccagaggtggtgttcagtgt	11	11	13	6	0	2	4	2	3	0	1	3	5	3	5	1	3	1	1	1	3	1	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:33038869C>T	ENST00000330899.4	+	9	1345	c.1162C>T	c.(1162-1164)Ccc>Tcc	p.P388S	DNAJA1_ENST00000544625.1_Missense_Mutation_p.P231S	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	388					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TGAACATCATCCCAGAGGTGG	0.458													3	27					0	0	0	0	T	33038869	C	T	33038869	3	4	348	1	0	0	0	0	1	0	0	0	4647	855	30	2	1192	2	DNAJA1	9	33038869	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	11067762	33038869	108174562	128	65854											
CREB3	10488	broad.mit.edu	37	chr9	35736716	35736716	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattttgcaggacagatactCaggctagatatgaggatatg	13	11	11	6	0	1	3	1	1	0	2	1	5	1	5	0	3	2	2	0	3	4	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:35736716C>G	ENST00000353704.2	+	9	1547	c.1109C>G	c.(1108-1110)tCa>tGa	p.S370*	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	394	Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		GACAGATACTCAGGCTAGATA	0.582											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	112					0	0	0	0	G	35736716	C	G	35736716	4	3	348	1	0	0	0	0	0	1	0	0	3885	838	29	2	1143	2	CREB3	9	35736716	Nonsense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	2697847	35736716	105476715	129	65855											
OSTF1	26578	broad.mit.edu	37	chr9	77755829	77755829	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgcctgtgcatctctcctGaaaaagaaacagggaacagg	13	7	11	10	0	1	2	0	1	1	1	3	3	2	3	2	2	4	2	2	2	4	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:77755829G>A	ENST00000346234.6	+	9	717	c.567G>A	c.(565-567)ctG>ctA	p.L189L		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	189					ossification|signal transduction	cytoplasm	identical protein binding			endometrium(1)|skin(1)	2						CATCTCTCCTGAAAAAGAAAC	0.403													42	25					0	0	0	0	A	77755829	G	A	77755829	2	1	348	1	0	0	0	0	0	0	0	1	11368	1277	45	2		2	OSTF1	9	77755829	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	42019113	77755829	63457602	130	65856											
OR1L4	254973	broad.mit.edu	37	chr9	125487200	125487200	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaagacacagaatttactCatagaaagaacaaaatgttg	20	10	6	5	0	1	4	1	0	0	4	1	4	1	4	0	0	2	1	0	0	8	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:125487200C>G	ENST00000259466.1	+	1	932	c.932C>G	c.(931-933)tCa>tGa	p.S311*		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGAATTTACTCATAGAAAGAA	0.378													10	8					0	0	0	0	G	125487200	C	G	125487200	4	3	348	1	0	0	0	0	0	1	0	0	11036	838	29	2	934	2	OR1L4	9	125487200	Nonsense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	47731371	125487200	15726231	131	65857											
SPTAN1	6709	broad.mit.edu	37	chr9	131339527	131339527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagcacgagggtctggagaGagatcttgctgctctagaag	11	8	15	7	1	3	3	0	0	3	3	3	7	3	3	0	2	3	3	0	2	3	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:131339527G>A	ENST00000372739.3	+	7	1015	c.905G>A	c.(904-906)aGa>aAa	p.R302K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.R302K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.R302K	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	302					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTCTGGAGAGAGATCTTGCT	0.468													5	129					0	0	0	0	A	131339527	G	A	131339527	3	1	348	1	0	0	0	0	1	0	0	0	15207	942	33	2	927	2	SPTAN1	9	131339527	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	5852327	131339527	9873904	132	65858											
NOTCH1	4851	broad.mit.edu	37	chr9	139412282	139412282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacgggttcgagacgcactCgttgacgtcgatctcgcatc	7	9	12	13	7	1	2	0	1	1	1	6	4	1	2	0	1	0	5	0	1	0	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr9:139412282C>T	ENST00000277541.6	-	8	1438	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	455	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGACGCACTCGTTGACGTCG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			65	48					0	0	0	0	T	139412282	C	T	139412282	3	4	348	1	0	0	0	0	1	0	0	0	10617	893	31	1	6412	1	NOTCH1	9	139412282	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	8072755	139412282	1801149	133	65859											
UCMA	221044	broad.mit.edu	37	chr10	13275760	13275760	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgcctcttctcccgccatCtgcatggtgcccacagatac	6	10	7	18	2	3	1	0	0	3	1	5	1	3	1	4	1	3	1	4	1	1	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:13275760C>T	ENST00000378681.3	-	2	171	c.99G>A	c.(97-99)caG>caA	p.Q33Q	UCMA_ENST00000463405.2_Intron	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	33						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						CTCCCGCCATCTGCATGGTGC	0.647													91	89					0	0	0	0	T	13275760	C	T	13275760	2	4	348	1	0	0	0	0	0	0	0	1	17022	912	32	2		2	UCMA	10	13275760	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08		13275760	122258987	134	65860											
ITGA8	8516	broad.mit.edu	37	chr10	15639277	15639277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacattttccatcttgtactCacagctcagtggtcgaaatc	10	14	6	11	1	3	0	2	0	1	0	6	1	4	0	1	1	3	2	1	1	3	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:15639277C>T	ENST00000378076.3	-	21	2493	c.2140G>A	c.(2140-2142)Gag>Aag	p.E714K	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	714					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATCTTGTACTCACAGCTCAGT	0.478													55	58					0	0	0	0	T	15639277	C	T	15639277	3	4	348	1	0	0	0	0	1	0	0	0	7935	835	29	2	1091	2	ITGA8	10	15639277	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	2363517	15639277	119895470	135	65861											
SVIL	6840	broad.mit.edu	37	chr10	29775131	29775131	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctattatggctgcttcataGagttcatcttcttttgggtc	6	19	8	8	0	5	1	2	0	3	1	6	1	5	1	0	2	1	3	0	2	3	8			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:29775131G>C	ENST00000375398.2	-	28	5111	c.4662C>G	c.(4660-4662)ctC>ctG	p.L1554L	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Silent_p.L1128L|SVIL_ENST00000535393.1_Silent_p.L468L|SVIL_ENST00000355867.4_Silent_p.L1554L|SVIL_ENST00000538146.1_Silent_p.L346L			O95425	SVIL_HUMAN	supervillin	1554	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTGCTTCATAGAGTTCATCTT	0.423													6	105					0	0	0	0	C	29775131	G	C	29775131	2	2	348	1	0	0	0	0	0	0	0	1	15511	929	33	2		2	SVIL	10	29775131	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	14135854	29775131	105759616	136	65862											
ZNF32	7580	broad.mit.edu	37	chr10	44139569	44139569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgggtgaagctttttcCacactggccgcacagatagg	8	11	11	11	1	1	2	0	1	1	1	3	2	2	2	2	3	1	2	2	3	2	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:44139569C>T	ENST00000395797.1	-	3	939	c.751G>A	c.(751-753)Gga>Aga	p.G251R	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.G251R	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		AAGCTTTTTCCACACTGGCCG	0.522													11	88					0	0	0	0	T	44139569	C	T	44139569	3	4	348	1	0	0	0	0	1	0	0	0	17933	603	21	4	74	4	ZNF32	10	44139569	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	14364438	44139569	91395178	137	65863											
OGDHL	55753	broad.mit.edu	37	chr10	50955215	50955215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgacgcggttgatcctctCatggtacatgcccaggtggt	6	11	14	10	2	1	2	1	2	1	0	3	2	2	2	2	5	2	2	2	5	1	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:50955215C>G	ENST00000374103.4	-	9	1112	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	OGDHL_ENST00000432695.1_Missense_Mutation_p.E134Q|OGDHL_ENST00000419399.1_Missense_Mutation_p.E286Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	343					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTGATCCTCTCATGGTACATG	0.582													30	66					0	0	0	0	G	50955215	C	G	50955215	3	3	348	1	0	0	0	0	1	0	0	0	10911	835	29	2	2065	2	OGDHL	10	50955215	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	6815646	50955215	84579532	138	65864											
ANK3	288	broad.mit.edu	37	chr10	61833210	61833210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgattcctcagtatcagaatGagacacatctagcttttctg	11	13	7	10	1	4	2	2	1	2	2	5	4	5	2	1	0	1	2	1	0	3	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:61833210G>T	ENST00000280772.1	-	37	7620	c.7429C>A	c.(7429-7431)Cat>Aat	p.H2477N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2477					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTATCAGAATGAGACACATCT	0.463													26	58					1.04121e-07	1.10102e-07	1	0	T	61833210	G	T	61833210	3	4	348	1	0	0	0	0	1	0	0	0	622	1290	45	2	6045	2	ANK3	10	61833210	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	10877995	61833210	73701537	139	65865											
EGR2	1959	broad.mit.edu	37	chr10	64573737	64573737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggatagtctgggatcattgGgaagagacctgggtccgtgg	9	9	17	6	1	2	1	1	0	1	1	3	5	3	4	2	5	0	0	2	5	2	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:64573737G>A	ENST00000242480.3	-	2	986	c.661C>T	c.(661-663)Cca>Tca	p.P221S	EGR2_ENST00000439032.1_Missense_Mutation_p.P221S|EGR2_ENST00000411732.1_Missense_Mutation_p.P171S	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	221					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGATCATTGGGAAGAGACCT	0.587													36	94					0	0	0	0	A	64573737	G	A	64573737	3	1	348	1	0	0	0	0	1	0	0	0	5008	1232	43	4	773	4	EGR2	10	64573737	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2740527	64573737	70961010	140	65866											
MYPN	84665	broad.mit.edu	37	chr10	69948683	69948683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtacaaaatttcaagctttGagcagaggctgatgaatgaa	16	10	10	5	0	1	5	1	4	0	1	1	5	1	5	0	1	3	4	0	1	6	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:69948683G>C	ENST00000358913.5	+	13	3213	c.2725G>C	c.(2725-2727)Gag>Cag	p.E909Q	MYPN_ENST00000540630.1_Missense_Mutation_p.E909Q|MYPN_ENST00000354393.2_Missense_Mutation_p.E634Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	909						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTCAAGCTTTGAGCAGAGGCT	0.408													10	16					0	0	0	0	C	69948683	G	C	69948683	3	2	348	1	0	0	0	0	1	0	0	0	10168	1291	45	2	2771	2	MYPN	10	69948683	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	5374946	69948683	65586064	141	65867											
RNLS	55328	broad.mit.edu	37	chr10	90122397	90122397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccaagggacatcaatcttCgtaccagcttcataaaagag	14	8	8	11	1	3	1	2	0	1	1	4	2	3	2	2	1	2	2	2	1	5	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:90122397C>T	ENST00000371947.3	-	5	1951	c.612G>A	c.(610-612)acG>acA	p.T204T	RNLS_ENST00000331772.4_Silent_p.T204T|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.T121T	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	204						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CATCAATCTTCGTACCAGCTT	0.468													10	41					0	0	0	0	T	90122397	C	T	90122397	2	4	348	1	0	0	0	0	0	0	0	1	13590	871	31	1		1	RNLS	10	90122397	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	20173714	90122397	45412350	142	65868											
CPEB3	22849	broad.mit.edu	37	chr10	93940750	93940750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cataatattatctgttcctgGatgatggaaatttatcccca	12	15	6	8	0	1	1	0	1	1	0	3	3	3	3	3	2	0	1	3	2	5	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:93940750G>A	ENST00000412050.4	-	4	1211	c.1123C>T	c.(1123-1125)Cca>Tca	p.P375S	CPEB3_ENST00000265997.4_Missense_Mutation_p.P398S	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	398							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TCTGTTCCTGGATGATGGAAA	0.274													5	27					0	0	0	0	A	93940750	G	A	93940750	3	1	348	1	0	0	0	0	1	0	0	0	3832	1174	41	2	959	2	CPEB3	10	93940750	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	3818353	93940750	41593997	143	65869											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105363418	105363418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggcgggggcaccttgggCcgggtcagcgtgcttgtgcg	2	8	20	11	4	1	0	1	0	0	0	1	0	1	0	2	5	3	3	2	5	0	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:105363418C>T	ENST00000369774.4	-	15	1833	c.1557G>A	c.(1555-1557)cgG>cgA	p.R519R	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.R354R|SH3PXD2A_ENST00000540321.1_Silent_p.R386R|SH3PXD2A_ENST00000355946.2_Silent_p.R491R			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	519					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCACCTTGGGCCGGGTCAGCG	0.677													4	56					0	0	0	0	T	105363418	C	T	105363418	2	4	348	1	0	0	0	0	0	0	0	1	14344	726	26	4		4	SH3PXD2A	10	105363418	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	11422668	105363418	30171329	144	65870											
TECTB	6975	broad.mit.edu	37	chr10	114057948	114057948	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaggtgtggttacactgtGagacgttcatctgcgacagt	9	11	12	9	2	2	1	1	1	1	1	2	3	2	1	1	2	2	2	1	2	2	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:114057948G>C	ENST00000369422.3	+	7	793	c.793G>C	c.(793-795)Gag>Cag	p.E265Q		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	265	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GTTACACTGTGAGACGTTCAT	0.517													10	33					0	0	0	0	C	114057948	G	C	114057948	3	2	348	1	0	0	0	0	1	0	0	0	15842	1291	45	2	819	2	TECTB	10	114057948	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	8694530	114057948	21476799	145	65871											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118215233	118215234	+	Splice_Site	INS	-	-	A																															ctgttaaacaattctttcagINSaaaaaatttgaatattcccc																										TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:118215233_118215234insA	ENST00000369230.3	+	5	602_603		c.e5-1			NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3						lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AATTCTTTCAGAAAAAATTTGA	0.386													19	29	---	---	---	---					A	118215234	-	A	118215233	8	5	348	1	0	1	1	0	0	0	1	0	12224	956	33	0	474	0	PNLIPRP3	10	118215233	Splice_Site	INS	-	TCGA-CV-A6JM-01A-11D-A31L-08	4157285	118215233	17319514	146	65872											
PRLHR	2834	broad.mit.edu	37	chr10	120354659	120354659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccgacccgttgcccgccGaggcctctgcgctctggttg	3	8	12	18	5	2	0	0	0	2	0	2	2	2	0	6	2	2	3	6	2	0	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:120354659G>A	ENST00000239032.2	-	2	236	c.98C>T	c.(97-99)tCg>tTg	p.S33L	PRLHR_ENST00000369169.1_Missense_Mutation_p.S33L	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	33					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GTTGCCCGCCGAGGCCTCTGC	0.677													29	54					0	0	0	0	A	120354659	G	A	120354659	3	1	348	1	0	0	0	0	1	0	0	0	12610	1059	37	1	1018	1	PRLHR	10	120354659	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2139426	120354659	15180088	147	65873											
CTBP2	1488	broad.mit.edu	37	chr10	126715679	126715679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggggcagggtcaatgggtCtttcgctgatgtcgctgaag	7	10	16	8	2	2	2	1	2	1	0	4	2	2	2	0	4	0	3	0	4	2	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:126715679C>T	ENST00000309035.6	-	1	780	c.650G>A	c.(649-651)aGa>aAa	p.R217K	CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GTCAATGGGTCTTTCGCTGAT	0.677													36	67					0	0	0	0	T	126715679	C	T	126715679	3	4	348	1	0	0	0	0	1	0	0	0	4030	913	32	2	2343	2	CTBP2	10	126715679	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	6361020	126715679	8819068	148	65874											
BCCIP	56647	broad.mit.edu	37	chr10	127512149	127512149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtccaggtctaagcggcGtgccgtggaaagtggggttc	6	8	18	9	4	1	0	0	0	1	0	3	1	2	1	2	6	2	1	2	6	2	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr10:127512149G>T	ENST00000299130.3	+	1	35	c.23G>T	c.(22-24)cGt>cTt	p.R8L	BCCIP_ENST00000368759.5_Missense_Mutation_p.R8L|BCCIP_ENST00000278100.6_Missense_Mutation_p.R8L|BCCIP_ENST00000429863.2_Missense_Mutation_p.R8L	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	8					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCTAAGCGGCGTGCCGTGGAA	0.612													43	110					7.05377e-20	7.76298e-20	1	0	T	127512149	G	T	127512149	3	4	348	1	0	0	0	0	1	0	0	0	1360	1145	40	3	25	3	BCCIP	10	127512149	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	796470	127512149	8022598	149	65875											
B4GALNT4	338707	broad.mit.edu	37	chr11	376088	376088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccaggtgtacctgtccttCgtttatcccaacgactacac	8	11	6	16	2	0	0	0	0	0	0	3	1	2	0	5	1	3	2	5	1	4	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:376088C>T	ENST00000329962.6	+	12	1110	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	370						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTGTCCTTCGTTTATCCCA	0.682													7	40					0	0	0	0	T	376088	C	T	376088	2	4	348	1	0	0	0	0	0	0	0	1	1273	883	31	1		1	B4GALNT4	11	376088	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08		376088	134630428	150	65876											
MUC5B	727897	broad.mit.edu	37	chr11	1262589	1262589	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcaggccccgtgacggtCaccccctcggccccaggtac	6	5	11	19	3	2	1	2	1	0	0	3	1	2	1	6	4	2	2	6	4	1	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:1262589C>T	ENST00000447027.1	+	31	4546	c.4488C>T	c.(4486-4488)gtC>gtT	p.V1496V	MUC5B_ENST00000529681.1_Silent_p.V1493V			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1493	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGTGACGGTCACCCCCTCGG	0.647													6	16					0	0	0	0	T	1262589	C	T	1262589	2	4	348	1	0	0	0	0	0	0	0	1	10049	813	29	2		2	MUC5B	11	1262589	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	886501	1262589	133743927	151	65877											
DENND5A	23258	broad.mit.edu	37	chr11	9187469	9187469	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagaggttggacagtttggGctggcggatagtgctgccca	8	9	17	7	1	0	1	0	0	0	1	0	4	0	3	1	5	2	4	1	5	1	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:9187469G>C	ENST00000328194.3	-	11	2517	c.2197C>G	c.(2197-2199)Ccc>Gcc	p.P733A	DENND5A_ENST00000527700.1_Missense_Mutation_p.P76A|DENND5A_ENST00000530044.1_Missense_Mutation_p.P733A	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	733										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GACAGTTTGGGCTGGCGGATA	0.468													32	59					0	0	0	0	C	9187469	G	C	9187469	3	2	348	1	0	0	0	0	1	0	0	0	4473	1203	42	4	1718	4	DENND5A	11	9187469	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	7924880	9187469	125819047	152	65878											
ALX4	60529	broad.mit.edu	37	chr11	44286499	44286499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccggctcgccgttgagctCgtagccattgaggcctgggc	4	9	15	13	4	0	2	0	2	0	0	3	2	1	2	4	3	2	4	4	3	1	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:44286499C>T	ENST00000329255.3	-	4	1244	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	381					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCGTTGAGCTCGTAGCCATTG	0.652													21	61					0	0	0	0	T	44286499	C	T	44286499	3	4	348	1	0	0	0	0	1	0	0	0	558	893	31	1	98	1	ALX4	11	44286499	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	35099030	44286499	90720017	153	65879											
LRP4	4038	broad.mit.edu	37	chr11	46894661	46894661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactcccacctgcgggtatCatagtccagggtaaggccat	10	8	11	12	1	1	1	1	0	0	1	3	1	3	1	4	3	1	2	4	3	3	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:46894661C>T	ENST00000378623.1	-	30	4815	c.4573G>A	c.(4573-4575)Gat>Aat	p.D1525N	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1525					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.D1525H(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTGCGGGTATCATAGTCCAGG	0.502													37	85					0	0	0	0	T	46894661	C	T	46894661	3	4	348	1	0	0	0	0	1	0	0	0	9023	826	29	2	1180	2	LRP4	11	46894661	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	2608162	46894661	88111855	154	65880											
TRIM48	79097	broad.mit.edu	37	chr11	55036718	55036718	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgcaggtttttccttgcagGagtgagtccgtgctgctgca	5	13	13	10	1	0	1	0	1	0	0	2	2	2	2	2	2	5	6	2	2	0	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:55036718G>A	ENST00000417545.2	+	5	665	c.578_splice	c.e5-1	p.R193_splice		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	177						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTCCTTGCAGGAGTGAGTCCG	0.463													13	4					0	0	0	0	A	55036718	G	A	55036718	5	1	348	1	0	0	0	0	0	0	1	0	16618	1188	41	2	597	2	TRIM48	11	55036718	Splice_Site	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	8142057	55036718	79969798	155	65881											
DDB1	1642	broad.mit.edu	37	chr11	61069779	61069779	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgactttattgagtcgattCtgcatgtccagcaggaggtt	9	14	11	7	1	1	2	0	2	1	0	3	4	2	3	1	2	2	3	1	2	1	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:61069779C>T	ENST00000301764.7	-	25	3562	c.3165G>A	c.(3163-3165)caG>caA	p.Q1055Q	DDB1_ENST00000450997.2_Silent_p.Q366Q|DDB1_ENST00000451943.2_Silent_p.Q42Q|DDB1_ENST00000538470.1_Silent_p.Q102Q	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1055	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TGAGTCGATTCTGCATGTCCA	0.532								Nucleotide excision repair (NER)					28	111					0	0	0	0	T	61069779	C	T	61069779	2	4	348	1	0	0	0	0	0	0	0	1	4355	912	32	2		2	DDB1	11	61069779	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	6033061	61069779	73936737	156	65882											
TUT1	64852	broad.mit.edu	37	chr11	62343619	62343619	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagattagaaggcaggccCcctgccacaggcagtgcctg	10	5	13	13	0	0	2	0	0	0	2	0	3	0	2	4	3	2	2	4	3	2	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:62343619C>T	ENST00000476907.1	-	9	2263	c.1572G>A	c.(1570-1572)ggG>ggA	p.G524G	TUT1_ENST00000308436.7_Silent_p.G562G|MIR3654_ENST00000496634.2_Intron			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	524	PAP-associated.				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AAGGCAGGCCCCCTGCCACAG	0.602													5	39					0	0	0	0	T	62343619	C	T	62343619	2	4	348	1	0	0	0	0	0	0	0	1	16876	610	22	4		4	TUT1	11	62343619	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1273840	62343619	72662897	157	65883											
MTA2	9219	broad.mit.edu	37	chr11	62363555	62363555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttttgaacccacagaaatGatctggttagggtttggctt	9	14	12	6	0	1	3	0	2	1	1	1	3	1	3	1	4	1	4	1	4	3	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:62363555G>A	ENST00000278823.2	-	12	1430	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	MTA2_ENST00000527204.1_Silent_p.I174I|MTA2_ENST00000524902.1_Silent_p.I174I	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	347					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CCACAGAAATGATCTGGTTAG	0.488													19	51					0	0	0	0	A	62363555	G	A	62363555	2	1	348	1	0	0	0	0	0	0	0	1	9979	1280	45	2		2	MTA2	11	62363555	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	19936	62363555	72642961	158	65884											
SLC22A8	9376	broad.mit.edu	37	chr11	62763267	62763267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccttggccaaggagatctCcttctgcaggttgagtttga	7	12	13	9	0	2	3	0	2	2	1	3	4	2	3	3	4	1	3	3	4	1	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:62763267C>T	ENST00000336232.2	-	7	1045	c.910G>A	c.(910-912)Gag>Aag	p.E304K	SLC22A8_ENST00000535878.1_Missense_Mutation_p.E181K|SLC22A8_ENST00000545207.1_Missense_Mutation_p.E213K|SLC22A8_ENST00000430500.2_Missense_Mutation_p.E304K|SLC22A8_ENST00000311438.8_Missense_Mutation_p.E304K	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	304					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AAGGAGATCTCCTTCTGCAGG	0.592													37	133					0	0	0	0	T	62763267	C	T	62763267	3	4	348	1	0	0	0	0	1	0	0	0	14548	864	30	2	738	2	SLC22A8	11	62763267	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	399712	62763267	72243249	159	65885											
ATL3	25923	broad.mit.edu	37	chr11	63420016	63420016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgactggctgtcaaatGccccctgggtatccatcaga	9	10	10	12	0	2	2	2	1	0	1	3	2	3	2	3	2	1	3	3	2	2	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:63420016G>A	ENST00000398868.3	-	4	713	c.437C>T	c.(436-438)gCa>gTa	p.A146V	ATL3_ENST00000538786.1_Missense_Mutation_p.A128V|RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000332645.4_Missense_Mutation_p.A173V	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	146					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						GCTGTCAAATGCCCCCTGGGT	0.388													39	42					0	0	0	0	A	63420016	G	A	63420016	3	1	348	1	0	0	0	0	1	0	0	0	1112	1319	46	4	1228	4	ATL3	11	63420016	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	656749	63420016	71586500	160	65886											
OTUB1	55611	broad.mit.edu	37	chr11	63764862	63764862	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagcgaccacatccacatCattgcgctggcccaggccct	9	6	10	16	2	1	1	1	0	0	1	2	3	2	1	4	2	2	1	4	2	0	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:63764862C>T	ENST00000541478.1	+	4	817	c.357C>T	c.(355-357)atC>atT	p.I119I	OTUB1_ENST00000422031.2_Silent_p.I257I|OTUB1_ENST00000538426.1_Silent_p.I220I|OTUB1_ENST00000543004.1_Silent_p.I229I|OTUB1_ENST00000543988.1_Silent_p.I190I|OTUB1_ENST00000428192.2_Silent_p.I220I|OTUB1_ENST00000535715.1_Silent_p.I220I			Q96FW1	OTUB1_HUMAN	OTU domain, ubiquitin aldehyde binding 1	220	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						ACATCCACATCATTGCGCTGG	0.682													24	81					0	0	0	0	T	63764862	C	T	63764862	2	4	348	1	0	0	0	0	0	0	0	1	11382	816	29	2		2	OTUB1	11	63764862	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	344846	63764862	71241654	161	65887											
STIP1	10963	broad.mit.edu	37	chr11	63970956	63970956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagcgctgtatgatggCgcagtacaaccggcacgaca	11	6	11	13	4	0	1	0	1	0	0	0	2	0	1	2	2	4	5	2	2	4	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:63970956C>T	ENST00000358794.5	+	13	2115	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V	STIP1_ENST00000538945.1_Missense_Mutation_p.A450V|STIP1_ENST00000305218.4_Missense_Mutation_p.A474V			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	474	STI1 2.				axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TGTATGATGGCGCAGTACAAC	0.602													19	21					0	0	0	0	T	63970956	C	T	63970956	3	4	348	1	0	0	0	0	1	0	0	0	15375	768	27	1	1471	1	STIP1	11	63970956	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	206094	63970956	71035560	162	65888											
RASGRP2	10235	broad.mit.edu	37	chr11	64502685	64502685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatccccatcgacgtcaaaGttccggaacacagactgggg	11	6	10	14	3	1	1	1	0	0	1	4	3	3	2	4	3	1	1	4	3	2	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:64502685G>T	ENST00000377494.1	-	11	2233	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	RASGRP2_ENST00000394432.3_Missense_Mutation_p.N437K|RASGRP2_ENST00000377497.3_Missense_Mutation_p.N437K|RASGRP2_ENST00000354024.3_Missense_Mutation_p.N437K			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	437	EF-hand 1.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGACGTCAAAGTTCCGGAACA	0.582													14	52					0.00316338	0.00321095	1	0	T	64502685	G	T	64502685	3	4	348	1	0	0	0	0	1	0	0	0	13157	1020	36	4	538	4	RASGRP2	11	64502685	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	531729	64502685	70503831	163	65889											
PCNXL3	399909	broad.mit.edu	37	chr11	65383851	65383851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaccggcggttggttcttCgacccgcaccagagcacctt	6	9	10	16	4	2	1	1	0	1	1	3	2	2	1	4	3	1	4	4	3	0	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:65383851C>T	ENST00000355703.3	+	1	608	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	23						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GTTGGTTCTTCGACCCGCACC	0.647													14	36					0	0	0	0	T	65383851	C	T	65383851	2	4	348	1	0	0	0	0	0	0	0	1	11664	883	31	1		1	PCNXL3	11	65383851	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	881166	65383851	69622665	164	65890											
C11orf24	53838	broad.mit.edu	37	chr11	68030356	68030356	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgcattcctcttgactaatCccttccacattttgttaggg	8	16	6	11	0	1	1	0	1	1	0	4	1	4	1	3	1	1	2	3	1	2	7			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:68030356C>G	ENST00000304271.6	-	4	509	c.107G>C	c.(106-108)gGa>gCa	p.G36A	C11orf24_ENST00000530166.1_5'UTR|C11orf24_ENST00000533310.1_Missense_Mutation_p.G36A	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	36						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						CTTGACTAATCCCTTCCACAT	0.433													19	130					0	0	0	0	G	68030356	C	G	68030356	3	3	348	1	0	0	0	0	1	0	0	0	1646	855	30	2	1246	2	C11orf24	11	68030356	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	2646505	68030356	66976160	165	65891											
PGM2L1	283209	broad.mit.edu	37	chr11	74056608	74056608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgttcttcacatcagcatttCttgatttatttttcttccag	7	20	4	10	1	5	1	2	1	3	0	6	1	6	1	1	0	1	2	1	0	1	9			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:74056608C>T	ENST00000298198.4	-	9	1435	c.1124G>A	c.(1123-1125)aGa>aAa	p.R375K		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	375					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					ATCAGCATTTCTTGATTTATT	0.373													15	81					0	0	0	0	T	74056608	C	T	74056608	3	4	348	1	0	0	0	0	1	0	0	0	11871	913	32	2	768	2	PGM2L1	11	74056608	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	6026252	74056608	60949908	166	65892											
PAK1	5058	broad.mit.edu	37	chr11	77048372	77048372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaggctcctacttacttaGcttgacagagccatccattc	10	12	6	13	0	0	2	0	1	0	1	3	2	2	2	3	1	4	2	3	1	4	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:77048372G>T	ENST00000356341.3	-	12	1744	c.1213C>A	c.(1213-1215)Cta>Ata	p.L405I	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_Missense_Mutation_p.L405I|PAK1_ENST00000530617.1_Missense_Mutation_p.L405I|PAK1_ENST00000528203.1_Missense_Mutation_p.L307I	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	405	Protein kinase.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TACTTACTTAGCTTGACAGAG	0.453													12	4					2.27111e-07	2.39531e-07	1	0	T	77048372	G	T	77048372	3	4	348	1	0	0	0	0	1	0	0	0	11470	962	34	4	493	4	PAK1	11	77048372	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2991764	77048372	57958144	167	65893											
GAB2	9846	broad.mit.edu	37	chr11	77961252	77961252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggtgcaagtagagatactCctgaggtgcgctggtggaca	9	9	15	8	1	0	2	0	1	0	1	1	4	1	3	1	4	3	3	1	4	3	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:77961252C>T	ENST00000361507.4	-	3	656	c.571G>A	c.(571-573)Gag>Aag	p.E191K	GAB2_ENST00000340149.2_Missense_Mutation_p.E153K|GAB2_ENST00000526030.1_Intron	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	191					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TAGAGATACTCCTGAGGTGCG	0.562													141	98					0	0	0	0	T	77961252	C	T	77961252	3	4	348	1	0	0	0	0	1	0	0	0	6197	864	30	2	1491	2	GAB2	11	77961252	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	912880	77961252	57045264	168	65894											
C11orf82	220042	broad.mit.edu	37	chr11	82643899	82643899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaatctaagtcctagtGttgaaaaggagtcacaacca	17	8	9	7	0	2	1	1	1	1	0	3	3	3	3	2	2	1	1	2	2	7	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:82643899G>T	ENST00000533655.1	+	6	1731	c.1519G>T	c.(1519-1521)Gtt>Ttt	p.V507F	C11orf82_ENST00000430323.2_Missense_Mutation_p.V507F|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Missense_Mutation_p.V206F	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	507					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AAGTCCTAGTGTTGAAAAGGA	0.358													17	8					4.7546e-09	5.05411e-09	1	0	T	82643899	G	T	82643899	3	4	348	1	0	0	0	0	1	0	0	0	1676	1377	48	4	1533	4	C11orf82	11	82643899	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	4682647	82643899	52362617	169	65895											
DLG2	1740	broad.mit.edu	37	chr11	83984277	83984277	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgataattctcagcccGagaaacacttggccgttgca	12	9	9	11	2	1	2	1	1	1	1	2	3	1	2	2	1	4	3	2	1	3	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:83984277G>T	ENST00000418306.2	-	1	46	c.22C>A	c.(22-24)Cgg>Agg	p.R8R	DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000531015.1_Silent_p.R8R|DLG2_ENST00000398301.2_Intron	NM_001142700.1	NP_001136172.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTCTCAGCCCGAGAAACACTT	0.378													2	1					0.004672	0.0047304	1	0	T	83984277	G	T	83984277	2	4	348	1	0	0	0	0	0	0	0	1	4592	1057	37	3		3	DLG2	11	83984277	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	1340378	83984277	51022239	170	65896											
IL18	3606	broad.mit.edu	37	chr11	112019443	112019443	+	Frame_Shift_Del	DEL	G	G	-																															tacatacttataataaatatGgtccggggtgcattatctga																										TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:112019443delG	ENST00000280357.7	-	5	462	c.243delC	c.(241-243)acfs	p.T81fs	IL18_ENST00000524595.1_Frame_Shift_Del_p.T77fs|IL18_ENST00000528832.1_Frame_Shift_Del_p.T81fs|IL18_ENST00000533858.1_5'UTR|SDHD_ENST00000532699.1_Intron	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18 (interferon-gamma-inducing factor)	81					angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		TAATAAATATGGTCCGGGGTG	0.353													2	4	---	---	---	---					-	112019443	G	-	112019443	7	5	348	1	0	1	0	1	0	0	0	0	7698	1335	47	0	346	0	IL18	11	112019443	Frame_Shift_Del	DEL	G	TCGA-CV-A6JM-01A-11D-A31L-08	28035166	112019443	22987073	171	65897											
ZBTB16	7704	broad.mit.edu	37	chr11	113934355	113934355	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccgagatcctggagatCgagtacctggaggaacagtg	10	6	16	9	3	0	2	0	0	0	2	2	7	1	4	3	4	2	1	3	4	2	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:113934355C>A	ENST00000335953.4	+	2	713	c.333C>A	c.(331-333)atC>atA	p.I111I	ZBTB16_ENST00000392996.2_Silent_p.I111I	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	111					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCCTGGAGATCGAGTACCTGG	0.592													19	9					7.45023e-12	7.98238e-12	1	0	A	113934355	C	A	113934355	2	1	348	1	0	0	0	0	0	0	0	1	17621	874	31	3		3	ZBTB16	11	113934355	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1914912	113934355	21072161	172	65898											
OR10G8	219869	broad.mit.edu	37	chr11	123900696	123900696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtcctgtgatcgctacCtggccatcagttacccgctc	6	12	8	15	2	2	1	2	1	0	0	5	1	3	1	4	1	2	3	4	1	2	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr11:123900696C>G	ENST00000431524.1	+	1	400	c.367C>G	c.(367-369)Ctg>Gtg	p.L123V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGATCGCTACCTGGCCATCAG	0.562													37	96					0	0	0	0	G	123900696	C	G	123900696	3	3	348	1	0	0	0	0	1	0	0	0	10974	680	24	4	369	4	OR10G8	11	123900696	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	9966341	123900696	11105820	173	65899											
VWF	7450	broad.mit.edu	37	chr12	6105333	6105333	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacagctgccagtcagcttGaaattctgcccatcaaaggt	12	9	9	11	0	3	1	2	1	1	0	3	2	3	1	2	1	5	2	2	1	3	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:6105333G>A	ENST00000261405.5	-	35	6152	c.5898C>T	c.(5896-5898)ttC>ttT	p.F1966F		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1966	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGTCAGCTTGAAATTCTGCC	0.537													21	15					0	0	0	0	A	6105333	G	A	6105333	2	1	348	1	0	0	0	0	0	0	0	1	17342	1281	45	2		2	VWF	12	6105333	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08		6105333	127746562	174	65900											
USP5	8078	broad.mit.edu	37	chr12	6975200	6975200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctccgagaagccgcccaagGacctgggctacatctacttc	9	7	9	16	2	1	1	0	0	1	1	3	3	2	2	5	2	3	1	5	2	4	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:6975200G>A	ENST00000229268.8	+	20	2588	c.2536G>A	c.(2536-2538)Gac>Aac	p.D846N	USP5_ENST00000389231.5_Missense_Mutation_p.D823N	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	846					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GCCGCCCAAGGACCTGGGCTA	0.542													14	94					0	0	0	0	A	6975200	G	A	6975200	3	1	348	1	0	0	0	0	1	0	0	0	17177	1174	41	2	2614	2	USP5	12	6975200	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	869867	6975200	126876695	175	65901											
ATN1	1822	broad.mit.edu	37	chr12	7046047	7046047	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctccctccctggggtctctGaggccctacccaccagggcc	4	8	10	19	0	2	1	0	1	2	0	5	1	3	1	6	4	1	0	6	4	1	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:7046047G>C	ENST00000356654.4	+	5	1854	c.1617G>C	c.(1615-1617)ctG>ctC	p.L539L	ATN1_ENST00000396684.2_Silent_p.L539L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	539	Involved in binding BAIAP2.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGGGTCTCTGAGGCCCTACC	0.657													93	116					0	0	0	0	C	7046047	G	C	7046047	2	2	348	1	0	0	0	0	0	0	0	1	1115	1277	45	2		2	ATN1	12	7046047	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	70847	7046047	126805848	176	65902											
FOXJ2	55810	broad.mit.edu	37	chr12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-																															agcagccaccgccacctcaaCagcagcagcagcagcagcag																										TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)del	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.64													7	115	---	---	---	---					-	8200560	CAG	-	8200558	7	5	348	1	0	1	0	1	0	0	0	0	6059	479	17	0	920	0	FOXJ2	12	8200558	In_Frame_Del	DEL	CAG	TCGA-CV-A6JM-01A-11D-A31L-08	1154511	8200558	125651337	177	65903											
ADCY6	112	broad.mit.edu	37	chr12	49170117	49170117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtactgcagtgttgcccGagtgatgtggatgcggctgt	6	11	16	8	2	0	1	0	1	0	0	0	3	0	2	1	3	4	4	1	3	1	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:49170117G>A	ENST00000307885.4	-	7	2246	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	ADCY6_ENST00000550422.1_Missense_Mutation_p.R518W|ADCY6_ENST00000357869.3_Missense_Mutation_p.R518W|ADCY6_ENST00000552090.1_5'UTR	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	518					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGTGTTGCCCGAGTGATGTGG	0.637													21	60					0	0	0	0	A	49170117	G	A	49170117	3	1	348	1	0	0	0	0	1	0	0	0	298	1057	37	1	2014	1	ADCY6	12	49170117	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	40969559	49170117	84681778	178	65904											
DDX23	9416	broad.mit.edu	37	chr12	49225034	49225034	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatccttggccccagccttGaggttggacaacgcaaactc	10	9	9	13	1	0	1	0	1	0	0	2	2	1	2	4	3	3	2	4	3	3	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:49225034G>C	ENST00000308025.3	-	16	2209	c.2130C>G	c.(2128-2130)ctC>ctG	p.L710L		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	710	Helicase C-terminal.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCCCAGCCTTGAGGTTGGACA	0.483													48	133					0	0	0	0	C	49225034	G	C	49225034	2	2	348	1	0	0	0	0	0	0	0	1	4382	1277	45	2		2	DDX23	12	49225034	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	54917	49225034	84626861	179	65905											
CSRNP2	81566	broad.mit.edu	37	chr12	51467696	51467696	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttcctgggcaaactcacaGagtgtatagctccgtacaga	11	10	10	10	1	1	2	1	0	0	2	3	2	3	2	2	1	3	5	2	1	4	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:51467696G>A	ENST00000228515.1	-	3	618	c.321C>T	c.(319-321)ctC>ctT	p.L107L		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	107					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						CAAACTCACAGAGTGTATAGC	0.537													37	68					0	0	0	0	A	51467696	G	A	51467696	2	1	348	1	0	0	0	0	0	0	0	1	3996	929	33	2		2	CSRNP2	12	51467696	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2242662	51467696	82384199	180	65906											
FAM19A2	338811	broad.mit.edu	37	chr12	62261181	62261181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagcagttttccttttgttGctttctgtaagtatctctta	6	22	6	7	0	2	0	0	0	2	0	4	0	3	0	1	0	2	6	1	0	4	10			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:62261181G>A	ENST00000416284.3	-	2	1610	c.26C>T	c.(25-27)gCa>gTa	p.A9V	FAM19A2_ENST00000551619.1_Missense_Mutation_p.A9V|FAM19A2_ENST00000551449.1_Missense_Mutation_p.A9V	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	9						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TCCTTTTGTTGCTTTCTGTAA	0.299													12	32					0	0	0	0	A	62261181	G	A	62261181	3	1	348	1	0	0	0	0	1	0	0	0	5575	1319	46	4	385	4	FAM19A2	12	62261181	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	10793485	62261181	71590714	181	65907											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450284	85450284	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgaaaaccaatgaagaGcagaaaataatcaaagataa	23	5	9	4	0	1	5	1	2	0	3	1	6	1	5	1	1	2	1	1	1	9	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:85450284G>A	ENST00000393217.2	+	8	1774	c.1713G>A	c.(1711-1713)gaG>gaA	p.E571E		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	571										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCAATGAAGAGCAGAAAATAA	0.284													6	13					0	0	0	0	A	85450284	G	A	85450284	2	1	348	1	0	0	0	0	0	0	0	1	9093	962	34	4		4	LRRIQ1	12	85450284	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	23189103	85450284	48401611	182	65908											
RPLP0	6175	broad.mit.edu	37	chr12	120636945	120636945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggccagcaacatgtccctGatctcagtgaggtcctcctt	7	12	9	13	0	1	2	1	2	1	0	5	2	4	2	4	2	2	1	4	2	1	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:120636945G>A	ENST00000551150.1	-	3	609	c.294C>T	c.(292-294)atC>atT	p.I98I	RPLP0_ENST00000392514.4_Silent_p.I98I|RPLP0_ENST00000313104.5_Silent_p.I98I|RPLP0_ENST00000546989.1_Silent_p.I98I|RPLP0_ENST00000228306.4_Silent_p.I98I|RPLP0_ENST00000550296.1_5'UTR			P05388	RLA0_HUMAN	ribosomal protein, large, P0	98					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACATGTCCCTGATCTCAGTGA	0.473													11	59					0	0	0	0	A	120636945	G	A	120636945	2	1	348	1	0	0	0	0	0	0	0	1	13689	1280	45	2		2	RPLP0	12	120636945	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	35186661	120636945	13214950	183	65909											
KNTC1	9735	broad.mit.edu	37	chr12	123054275	123054275	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatgctggagagcttgctCaactcaatgtctgcatcagt	12	11	9	9	0	4	1	3	0	1	1	4	2	4	1	0	1	5	4	0	1	4	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:123054275C>G	ENST00000333479.7	+	22	1941	c.1764C>G	c.(1762-1764)ctC>ctG	p.L588L	KNTC1_ENST00000450485.2_Silent_p.L551L	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	588					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGAGCTTGCTCAACTCAATGT	0.383													19	44					0	0	0	0	G	123054275	C	G	123054275	2	3	348	1	0	0	0	0	0	0	0	1	8480	813	29	2		2	KNTC1	12	123054275	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	2417330	123054275	10797620	184	65910											
FAM101A	144347	broad.mit.edu	37	chr12	124796441	124796441	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgttctttggggagagcatCaaggtgaacccggaacccac	10	8	13	10	1	2	2	1	1	1	1	2	4	2	3	2	4	3	2	2	4	3	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr12:124796441C>T	ENST00000324038.3	+	2	285	c.42C>T	c.(40-42)atC>atT	p.I14I	FAM101A_ENST00000338359.4_Silent_p.I14I|RP11-522N14.1_ENST00000540762.1_RNA|FAM101A_ENST00000389727.3_Silent_p.I95I|FAM101A_ENST00000546355.1_Silent_p.I14I	NM_181709.4	NP_859060.3	Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	95										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GGGAGAGCATCAAGGTGAACC	0.662													10	22					0	0	0	0	T	124796441	C	T	124796441	2	4	348	1	0	0	0	0	0	0	0	1	5421	816	29	2		2	FAM101A	12	124796441	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1742166	124796441	9055454	185	65911											
ATP12A	479	broad.mit.edu	37	chr13	25283535	25283535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttggcgtacgagaaagctGaaagtgacatcatgaacagg	14	7	12	8	2	1	4	1	3	0	1	1	5	1	4	1	2	3	2	1	2	4	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:25283535G>A	ENST00000218548.6	+	18	2878	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K	ATP12A_ENST00000381946.3_Missense_Mutation_p.E843K	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	843					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CGAGAAAGCTGAAAGTGACAT	0.547													20	29					0	0	0	0	A	25283535	G	A	25283535	3	1	348	1	0	0	0	0	1	0	0	0	1126	1291	45	2	2615	2	ATP12A	13	25283535	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08		25283535	89886343	186	65912											
KPNA3	3839	broad.mit.edu	37	chr13	50296663	50296663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcacaaacattctgatgtGgtgaacgaagaagtctcaga	14	10	10	7	1	3	4	2	2	2	2	4	5	3	4	0	1	2	1	0	1	4	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:50296663G>A	ENST00000261667.3	-	8	920	c.506C>T	c.(505-507)cCa>cTa	p.P169L		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	169	NLS binding site (major) (By similarity).				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		ATTCTGATGTGGTGAACGAAG	0.333													22	14					0	0	0	0	A	50296663	G	A	50296663	3	1	348	1	0	0	0	0	1	0	0	0	8483	1348	47	4	1099	4	KPNA3	13	50296663	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	25013128	50296663	64873215	187	65913											
VPS36	51028	broad.mit.edu	37	chr13	53010427	53010427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcatgtagaaacttacctCaatctggccatgttctttga	11	15	6	9	0	4	2	2	1	2	1	4	2	4	2	2	1	2	2	2	1	4	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:53010427C>G	ENST00000378060.4	-	4	376	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	VPS36_ENST00000480923.1_5'UTR	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	117	GLUE C-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AAACTTACCTCAATCTGGCCA	0.428													5	9					0	0	0	0	G	53010427	C	G	53010427	3	3	348	1	0	0	0	0	1	0	0	0	17300	835	29	2	855	2	VPS36	13	53010427	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	2713764	53010427	62159451	188	65914											
PCDH9	5101	broad.mit.edu	37	chr13	66879068	66879068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atatggacccaagccaggagGcatccagcaattatcagagt	14	7	10	10	0	1	1	1	0	0	1	2	3	2	3	3	3	2	2	3	3	4	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:66879068G>A	ENST00000544246.1	-	5	4124	c.3433C>T	c.(3433-3435)Cct>Tct	p.P1145S	PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.P1111S|PCDH9_ENST00000377865.2_Missense_Mutation_p.P1145S|PCDH9_ENST00000456367.1_Missense_Mutation_p.P1111S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1145					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P1145S(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAGCCAGGAGGCATCCAGCAA	0.507													82	27					0	0	0	0	A	66879068	G	A	66879068	3	1	348	1	0	0	0	0	1	0	0	0	11589	1203	42	4	284	4	PCDH9	13	66879068	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	13868641	66879068	48290810	189	65915											
MYCBP2	23077	broad.mit.edu	37	chr13	77765925	77765925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaggagaacaggctcaTcaaacatcattgcatatttt	13	12	7	9	0	3	1	3	0	0	1	3	2	3	1	0	2	4	3	0	2	3	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:77765925T>C	ENST00000407578.2	-	28	4225	c.3959A>G	c.(3958-3960)gAt>gGt	p.D1320G	MYCBP2_ENST00000544440.2_Missense_Mutation_p.D1282G|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D1282G	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACAGGCTCATCAAACATCAT	0.408													44	24					0	0	0	0	C	77765925	T	C	77765925	3	2	348	1	0	0	0	0	1	0	0	0	10088	1435	50	5	10301	5	MYCBP2	13	77765925	Missense_Mutation	SNP	T	TCGA-CV-A6JM-01A-11D-A31L-08	10886857	77765925	37403953	190	65916											
UBAC2	337867	broad.mit.edu	37	chr13	100037588	100037588	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacttcctgctgcagcactGatagtcccaggccaacactg	10	8	8	15	0	0	1	0	1	0	0	2	1	2	1	3	1	5	3	3	1	3	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:100037588G>A	ENST00000376440.2	+	7	1432	c.929G>A	c.(928-930)tGa>tAa	p.*310*	UBAC2_ENST00000460562.1_3'UTR|UBAC2_ENST00000403766.3_Silent_p.*345*	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	0	UBA.					integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTGCAGCACTGATAGTCCCAG	0.582													26	29					0	0	0	0	A	100037588	G	A	100037588	2	1	348	1	0	0	0	0	0	0	0	1	16931	1285	45	2		2	UBAC2	13	100037588	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	22271663	100037588	15132290	191	65917											
NALCN	259232	broad.mit.edu	37	chr13	101944607	101944607	+	Missense_Mutation	SNP	T	T	C																															ggcgaggaagaaaatgagagTgatgaaatagaagtaggaac																										TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:101944607T>C	ENST00000251127.6	-	8	991	c.910A>G	c.(910-912)Act>Gct	p.T304A	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.T304A	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	304						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAATGAGAGTGATGAAATAG	0.453													20	25					0	0	0	0	C	101944607	T	C	101944607	3	2	348	1	0	0	0	0	1	0	0	0	10218	1696	59	5	4454	5	NALCN	13	101944607	Missense_Mutation	SNP	T	TCGA-CV-A6JM-01A-11D-A31L-08	1907019	101944607	13225271	192	65918	817	2									
NALCN	259232	broad.mit.edu	37	chr13	101944608	101944608	+	Silent	SNP	G	G	T																															gcgaggaagaaaatgagagtGatgaaatagaagtaggaacg																										TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:101944608G>T	ENST00000251127.6	-	8	990	c.909C>A	c.(907-909)atC>atA	p.I303I	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.I303I	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	303						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAATGAGAGTGATGAAATAGA	0.453													19	26					0.00121646	0.00124726	1	0	T	101944608	G	T	101944608	2	4	348	1	0	0	0	0	0	0	0	1	10218	1280	45	2		2	NALCN	13	101944608	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	1	101944608	13225270	193	65919	817	2									
ITGBL1	9358	broad.mit.edu	37	chr13	102227846	102227846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgtatggtaaattttgtGagtgtgacgatagagaatgc	11	15	13	2	1	0	3	0	2	0	1	0	5	0	3	0	1	1	2	0	1	5	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr13:102227846G>A	ENST00000376180.3	+	4	754	c.535G>A	c.(535-537)Gag>Aag	p.E179K	ITGBL1_ENST00000376162.3_Missense_Mutation_p.E86K|ITGBL1_ENST00000545560.2_Missense_Mutation_p.E38K	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	179	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAAATTTTGTGAGTGTGACGA	0.348													38	144					0	0	0	0	A	102227846	G	A	102227846	3	1	348	1	0	0	0	0	1	0	0	0	7955	1291	45	2	549	2	ITGBL1	13	102227846	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	283238	102227846	12942032	194	65920											
HAUS4	54930	broad.mit.edu	37	chr14	23415864	23415864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataggagttcaggacctgtCttgagttctccatgtcctgc	7	13	10	11	0	3	1	1	1	2	0	5	3	4	3	3	2	1	2	3	2	1	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:23415864C>A	ENST00000206474.7	-	10	1214	c.962G>T	c.(961-963)aGa>aTa	p.R321I	HAUS4_ENST00000555986.1_Missense_Mutation_p.R276I|HAUS4_ENST00000490506.1_Missense_Mutation_p.R197I|HAUS4_ENST00000541587.1_Missense_Mutation_p.R321I|HAUS4_ENST00000397409.4_Missense_Mutation_p.R195I|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000555367.1_Missense_Mutation_p.R276I|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000342454.8_Missense_Mutation_p.R276I|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000347758.2_Missense_Mutation_p.R195I|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.K150N			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	321					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CAGGACCTGTCTTGAGTTCTC	0.552													16	51					1.3612e-06	1.42084e-06	1	0	A	23415864	C	A	23415864	3	1	348	1	0	0	0	0	1	0	0	0	7018	913	32	2	133	2	HAUS4	14	23415864	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08		23415864	83933676	195	65921											
MYH6	4624	broad.mit.edu	37	chr14	23852493	23852493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgcagcttgtccaccaggtCctgtagccgcagcaggttct	6	11	11	13	1	1	0	0	0	1	0	3	0	3	0	4	2	4	6	4	2	1	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:23852493C>T	ENST00000405093.3	-	37	5672	c.5602G>A	c.(5602-5604)Gac>Aac	p.D1868N	MYH6_ENST00000356287.3_Missense_Mutation_p.D1868N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1868					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCACCAGGTCCTGTAGCCGC	0.562													67	88					0	0	0	0	T	23852493	C	T	23852493	3	4	348	1	0	0	0	0	1	0	0	0	10108	855	30	2	229	2	MYH6	14	23852493	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	436629	23852493	83497047	196	65922											
FAM179B	23116	broad.mit.edu	37	chr14	45433339	45433339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgaatgctgtgcaggccaGattggctaggaaaaccttac	12	9	12	8	0	0	2	0	1	0	1	0	4	0	3	2	3	4	3	2	3	5	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:45433339G>C	ENST00000361462.2	+	1	1898	c.1715G>C	c.(1714-1716)aGa>aCa	p.R572T	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.R572T|FAM179B_ENST00000361577.3_Missense_Mutation_p.R572T			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	572							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GTGCAGGCCAGATTGGCTAGG	0.468													18	144					0	0	0	0	C	45433339	G	C	45433339	3	2	348	1	0	0	0	0	1	0	0	0	5547	942	33	2	1717	2	FAM179B	14	45433339	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	21580846	45433339	61916201	197	65923											
ARID4A	5926	broad.mit.edu	37	chr14	58838607	58838607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttgattccacagtgtCtcatgcgggagcctccatgt	6	15	10	10	1	1	1	1	1	1	0	4	2	3	2	3	1	2	1	3	1	0	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:58838607C>A	ENST00000355431.3	+	24	4047	c.3674C>A	c.(3673-3675)tCt>tAt	p.S1225Y	ARID4A_ENST00000395168.3_Missense_Mutation_p.S1171Y|ARID4A_ENST00000431317.2_Missense_Mutation_p.S1156Y|ARID4A_ENST00000348476.3_Missense_Mutation_p.S1156Y|RP11-517O13.3_ENST00000556390.1_RNA	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1225					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCCACAGTGTCTCATGCGGGA	0.403													5	40					0.014758	0.0147945	1	0	A	58838607	C	A	58838607	3	1	348	1	0	0	0	0	1	0	0	0	921	913	32	2	3764	2	ARID4A	14	58838607	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	13405268	58838607	48510933	198	65924											
KCNH5	27133	broad.mit.edu	37	chr14	63269276	63269276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagatatcagctctcatGtccttgggacagatggagag	12	9	11	9	0	2	3	2	0	1	3	4	5	3	4	1	2	1	1	1	2	1	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:63269276G>T	ENST00000322893.7	-	9	1861	c.1593C>A	c.(1591-1593)gaC>gaA	p.D531E	KCNH5_ENST00000420622.2_Missense_Mutation_p.D531E|KCNH5_ENST00000394968.1_Missense_Mutation_p.D473E	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	531					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAGCTCTCATGTCCTTGGGAC	0.458													41	34					4.32679e-17	4.69799e-17	1	0	T	63269276	G	T	63269276	3	4	348	1	0	0	0	0	1	0	0	0	8088	1368	48	4	1419	4	KCNH5	14	63269276	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	4430669	63269276	44080264	199	65925											
PCNX	22990	broad.mit.edu	37	chr14	71455407	71455407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctacattgctcatcggatCacccctaaggtatggtattt	9	14	7	11	1	2	0	2	0	0	0	4	1	3	1	3	3	2	3	3	3	4	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:71455407C>T	ENST00000304743.2	+	7	2881	c.2435C>T	c.(2434-2436)tCa>tTa	p.S812L	PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Missense_Mutation_p.S812L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	812						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTCATCGGATCACCCCTAAGG	0.502													24	237					0	0	0	0	T	71455407	C	T	71455407	3	4	348	1	0	0	0	0	1	0	0	0	11662	838	29	2	2461	2	PCNX	14	71455407	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	8186131	71455407	35894133	200	65926											
DCAF4	26094	broad.mit.edu	37	chr14	73412678	73412678	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcaacctgcaaagtctGaagacccctacgctcaaggt	13	8	7	13	1	4	2	3	1	1	1	4	2	4	2	3	1	3	2	3	1	5	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:73412678G>T	ENST00000553457.1	+	6	611	c.321G>T	c.(319-321)ctG>ctT	p.L107L	DCAF4_ENST00000509153.1_Silent_p.L146L|DCAF4_ENST00000555042.1_Silent_p.L207L|DCAF4_ENST00000394234.2_Silent_p.L107L|DCAF4_ENST00000358377.2_Silent_p.L207L|DCAF4_ENST00000353777.3_Silent_p.L146L			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	207						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TGCAAAGTCTGAAGACCCCTA	0.512													177	245					3.89164e-85	4.39029e-85	1	0	T	73412678	G	T	73412678	2	4	348	1	0	0	0	0	0	0	0	1	4303	1277	45	2		2	DCAF4	14	73412678	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	1957271	73412678	33936862	201	65927											
PAPOLA	10914	broad.mit.edu	37	chr14	96998720	96998720	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaccaaacattgacaacttCaggttaactctgagagctat	14	11	7	9	0	2	2	1	2	1	1	2	3	2	2	1	1	5	3	1	1	5	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:96998720C>T	ENST00000216277.8	+	8	880	c.660C>T	c.(658-660)ttC>ttT	p.F220F	PAPOLA_ENST00000557320.1_Silent_p.F220F|PAPOLA_ENST00000392990.2_Silent_p.F220F	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	220				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TTGACAACTTCAGGTTAACTC	0.353													13	73					0	0	0	0	T	96998720	C	T	96998720	2	4	348	1	0	0	0	0	0	0	0	1	11500	825	29	2		2	PAPOLA	14	96998720	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	23586042	96998720	10350820	202	65928											
AHNAK2	113146	broad.mit.edu	37	chr14	105420855	105420855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctgcccggccctgccttCtgctcttggcgctccaccgt	1	11	11	18	3	2	0	0	0	2	0	3	0	3	0	5	3	3	3	5	3	0	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr14:105420855C>T	ENST00000333244.5	-	7	1052	c.933G>A	c.(931-933)caG>caA	p.Q311Q		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	311						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCCTGCCTTCTGCTCTTGGC	0.632													6	42					0	0	0	0	T	105420855	C	T	105420855	2	4	348	1	0	0	0	0	0	0	0	1	415	912	32	2		2	AHNAK2	14	105420855	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	8422135	105420855	1928685	203	65929											
MKRN3	7681	broad.mit.edu	37	chr15	23812438	23812438	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgagctggaagaatatttCaatttgattctgtagcatcg	12	15	9	5	1	2	3	1	2	1	1	3	4	2	4	0	1	2	3	0	1	6	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:23812438C>T	ENST00000314520.3	+	1	1985	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568945.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	503						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AAGAATATTTCAATTTGATTC	0.458													21	115					0	0	0	0	T	23812438	C	T	23812438	2	4	348	1	0	0	0	0	0	0	0	1	9677	825	29	2		2	MKRN3	15	23812438	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08		23812438	78718954	204	65930											
ATP10A	57194	broad.mit.edu	37	chr15	25924962	25924962	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcacagaggtcttgactgtCctccctgatgagtgctcggt	6	11	13	11	1	1	4	0	3	1	1	4	4	3	4	2	3	1	2	2	3	0	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:25924962C>T	ENST00000356865.6	-	21	4137	c.4026G>A	c.(4024-4026)agG>agA	p.R1342R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1342					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTTGACTGTCCTCCCTGATG	0.622													30	68					0	0	0	0	T	25924962	C	T	25924962	2	4	348	1	0	0	0	0	0	0	0	1	1120	854	30	2		2	ATP10A	15	25924962	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	2112524	25924962	76606430	205	65931											
IVD	3712	broad.mit.edu	37	chr15	40702842	40702842	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacagttcagtatggcggctCcggcctgggctacctggagc	6	8	14	13	2	1	0	1	0	0	0	2	1	2	1	3	5	2	4	3	5	2	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:40702842C>G	ENST00000249760.2	+	4	645	c.302C>G	c.(301-303)tCc>tGc	p.S101C	IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Missense_Mutation_p.S104C|IVD_ENST00000479013.2_Missense_Mutation_p.S74C	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	101					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		TATGGCGGCTCCGGCCTGGGC	0.547													37	55					0	0	0	0	G	40702842	C	G	40702842	3	3	348	1	0	0	0	0	1	0	0	0	7981	855	30	2	325	2	IVD	15	40702842	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	14777880	40702842	61828550	206	65932											
LRRC49	54839	broad.mit.edu	37	chr15	71341787	71341787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattctgtaaaacatatataGaagaccttgtgaaggaagcc	17	10	8	6	0	1	3	0	1	1	2	1	4	1	4	2	1	2	1	2	1	9	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:71341787G>A	ENST00000260382.5	+	16	2157	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	LRRC49_ENST00000544974.2_Missense_Mutation_p.E623K|LRRC49_ENST00000560158.2_Missense_Mutation_p.E321K|LRRC49_ENST00000443425.2_Missense_Mutation_p.E589K|LRRC49_ENST00000560369.1_Missense_Mutation_p.E638K|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_Missense_Mutation_p.E339K	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	633						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AACATATATAGAAGACCTTGT	0.333													23	31					0	0	0	0	A	71341787	G	A	71341787	3	1	348	1	0	0	0	0	1	0	0	0	9070	943	33	2	1959	2	LRRC49	15	71341787	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	30638945	71341787	31189605	207	65933											
CELF6	60677	broad.mit.edu	37	chr15	72579719	72579719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggcactagttggattgtCaaaactaacaaaccctggag	13	9	10	9	0	1	0	1	0	0	0	1	2	1	2	1	3	3	2	1	3	5	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:72579719C>T	ENST00000287202.5	-	12	1587	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	CELF6_ENST00000539635.1_Missense_Mutation_p.D306N|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.D418N|CELF6_ENST00000543764.2_Missense_Mutation_p.D308N|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000395258.2_Missense_Mutation_p.D332N	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	445	RRM 3.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						GTTGGATTGTCAAAACTAACA	0.537													20	54					0	0	0	0	T	72579719	C	T	72579719	3	4	348	1	0	0	0	0	1	0	0	0	3249	826	29	2	116	2	CELF6	15	72579719	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1237932	72579719	29951673	208	65934											
STOML1	9399	broad.mit.edu	37	chr15	74277772	74277772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccagctgggctgtcctggGgcggctggagcacggcctcc	3	6	17	15	2	0	0	0	0	0	0	2	1	2	1	4	6	2	4	4	6	0	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:74277772G>A	ENST00000316900.5	-	5	801	c.677C>T	c.(676-678)cCc>cTc	p.P226L	STOML1_ENST00000359750.4_Missense_Mutation_p.P226L|STOML1_ENST00000561656.1_Missense_Mutation_p.P139L|STOML1_ENST00000541638.1_Missense_Mutation_p.P184L|STOML1_ENST00000316911.6_Missense_Mutation_p.P176L|STOML1_ENST00000564777.1_Missense_Mutation_p.P176L	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	226						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCTGTCCTGGGGCGGCTGGAG	0.667													5	6					0	0	0	0	A	74277772	G	A	74277772	3	1	348	1	0	0	0	0	1	0	0	0	15403	1232	43	4	531	4	STOML1	15	74277772	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	1698053	74277772	28253620	209	65935											
ZNF774	342132	broad.mit.edu	37	chr15	90904219	90904219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgtgggaaaggattcgccGacagctccgccctcattaag	10	8	11	12	3	1	0	1	0	0	0	3	3	2	2	3	2	1	1	3	2	2	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:90904219G>A	ENST00000354377.3	+	4	1342	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGGATTCGCCGACAGCTCCGC	0.493													22	68					0	0	0	0	A	90904219	G	A	90904219	3	1	348	1	0	0	0	0	1	0	0	0	18240	1058	37	1	1166	1	ZNF774	15	90904219	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	16626447	90904219	11627173	210	65936											
SV2B	9899	broad.mit.edu	37	chr15	91835659	91835659	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccatcctgggaaacacCatctttgcttcttttgttgg	6	14	10	11	1	2	0	0	0	2	0	3	1	3	1	3	3	2	2	3	3	1	5	rs144869683		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:91835659C>T	ENST00000394232.1	+	13	2399	c.1929C>T	c.(1927-1929)acC>acT	p.T643T	SV2B_ENST00000330276.4_Silent_p.T643T|SV2B_ENST00000545111.2_Silent_p.T492T	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	643					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGGAAACACCATCTTTGCTT	0.483													21	112					0	0	0	0	T	91835659	C	T	91835659	2	4	348	1	0	0	0	0	0	0	0	1	15508	581	21	4		4	SV2B	15	91835659	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	931440	91835659	10695733	211	65937											
SYNM	23336	broad.mit.edu	37	chr15	99653797	99653797	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgtctattctctttagaGagtgattgactgcctggagg	7	15	12	7	0	3	3	0	2	3	1	4	5	3	4	1	2	1	0	1	2	2	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr15:99653797G>C	ENST00000336292.6	+	3	929	c.807_splice	c.e3-1	p.R270_splice	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_5'UTR|SYNM_ENST00000328642.7_Splice_Site_p.R270_splice	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	271	Coil 2.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TCTCTTTAGAGAGTGATTGAC	0.498													21	23					0	0	0	0	C	99653797	G	C	99653797	5	2	348	1	0	0	0	0	0	0	1	0	15546	956	33	2	817	2	SYNM	15	99653797	Splice_Site	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	7818138	99653797	2877595	212	65938											
WDR90	197335	broad.mit.edu	37	chr16	716533	716533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtcagcgtctgggcctccGactggctgcggaaccactgt	5	8	15	13	3	2	0	1	0	1	0	3	2	3	1	3	4	3	1	3	4	1	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:716533G>A	ENST00000549091.1	+	38	4917	c.4825G>A	c.(4825-4827)Gac>Aac	p.D1609N	WDR90_ENST00000547944.1_Missense_Mutation_p.D206N|WDR90_ENST00000293879.4_Missense_Mutation_p.D1607N|WDR90_ENST00000315764.4_Intron|WDR90_ENST00000547543.1_3'UTR	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1607										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGGGCCTCCGACTGGCTGCG	0.632													16	57					0	0	0	0	A	716533	G	A	716533	3	1	348	1	0	0	0	0	1	0	0	0	17433	1058	37	1	4969	1	WDR90	16	716533	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08		716533	89638220	213	65939											
TSC2	7249	broad.mit.edu	37	chr16	2127659	2127659	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccacccgtgaaagaattCaaggagagctctgcagccga	12	7	10	12	2	3	3	1	1	2	2	4	5	3	3	3	1	3	2	3	1	3	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:2127659C>T	ENST00000219476.3	+	26	3528	c.2898C>T	c.(2896-2898)ttC>ttT	p.F966F	TSC2_ENST00000353929.4_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000568454.1_Intron|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000350773.4_Silent_p.F966F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	966					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGAAAGAATTCAAGGAGAGCT	0.612			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				53	154					0	0	0	0	T	2127659	C	T	2127659	2	4	348	1	0	0	0	0	0	0	0	1	16701	825	29	2		2	TSC2	16	2127659	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1411126	2127659	88227094	214	65940											
ABCA3	21	broad.mit.edu	37	chr16	2345606	2345606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtacctgtgcgtgctctctCtgggaaggatgaaagacagc	9	9	13	10	2	2	2	0	1	2	1	3	4	2	4	1	2	4	2	1	2	3	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:2345606C>T	ENST00000301732.5	-	18	3099	c.2399G>A	c.(2398-2400)aGa>aAa	p.R800K	ABCA3_ENST00000382381.3_Missense_Mutation_p.R742K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	800					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGTGCTCTCTCTGGGAAGGAT	0.627													79	246					0	0	0	0	T	2345606	C	T	2345606	3	4	348	1	0	0	0	0	1	0	0	0	33	913	32	2	2779	2	ABCA3	16	2345606	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	217947	2345606	88009147	215	65941											
SRRM2	23524	broad.mit.edu	37	chr16	2817149	2817149	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgctggccttgctgcaaGaatgtcccaggttccagccc	6	10	11	14	0	0	1	0	0	0	1	2	1	2	1	4	2	5	5	4	2	2	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:2817149G>C	ENST00000301740.8	+	11	7169	c.6620G>C	c.(6619-6621)aGa>aCa	p.R2207T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2207	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTTGCTGCAAGAATGTCCCAG	0.597													25	63					0	0	0	0	C	2817149	G	C	2817149	3	2	348	1	0	0	0	0	1	0	0	0	15259	942	33	2	6658	2	SRRM2	16	2817149	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	471543	2817149	87537604	216	65942											
ZNF174	7727	broad.mit.edu	37	chr16	3452266	3452266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggagcagattttggagCttctggtgatggagcagttc	9	11	14	7	0	1	2	0	1	1	1	2	5	1	5	1	4	3	4	1	4	1	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:3452266C>A	ENST00000268655.4	+	1	847	c.262C>A	c.(262-264)Ctt>Att	p.L88I	ZNF174_ENST00000575752.1_Missense_Mutation_p.L88I|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000572544.1_Missense_Mutation_p.L88I|ZNF174_ENST00000571936.1_Missense_Mutation_p.L88I|ZNF174_ENST00000344823.5_Missense_Mutation_p.L88I	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	88	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GATTTTGGAGCTTCTGGTGAT	0.587													31	108					4.74835e-14	5.11458e-14	1	0	A	3452266	C	A	3452266	3	1	348	1	0	0	0	0	1	0	0	0	17839	797	28	4	264	4	ZNF174	16	3452266	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	635117	3452266	86902487	217	65943											
NMRAL1	57407	broad.mit.edu	37	chr16	4519347	4519347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttggtctccctgcactaCttctgcaccttgcagcctca	6	13	6	16	0	4	0	1	0	3	0	5	0	4	0	3	1	5	3	3	1	1	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:4519347C>T	ENST00000574733.1	-	3	889	c.160G>A	c.(160-162)Gta>Ata	p.V54I	NMRAL1_ENST00000574425.1_Missense_Mutation_p.V54I|NMRAL1_ENST00000283429.6_Missense_Mutation_p.V54I|NMRAL1_ENST00000572391.1_Intron|NMRAL1_ENST00000404295.3_Missense_Mutation_p.V54I			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	54						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CCCTGCACTACTTCTGCACCT	0.567													72	244					0	0	0	0	T	4519347	C	T	4519347	3	4	348	1	0	0	0	0	1	0	0	0	10571	565	20	4	755	4	NMRAL1	16	4519347	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1067081	4519347	85835406	218	65944											
ANKS3	124401	broad.mit.edu	37	chr16	4750786	4750786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagaggaacagagtagaagCgctgcagcggggctgccagc	11	3	18	9	2	0	3	0	0	0	3	0	5	0	4	1	4	6	4	1	4	3	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:4750786C>T	ENST00000450067.2	-	7	1161	c.851G>A	c.(850-852)cGc>cAc	p.R284H	ANKS3_ENST00000304283.4_Intron|ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000585773.1_Intron			Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	0										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						AGAGTAGAAGCGCTGCAGCGG	0.607													8	31					0	0	0	0	T	4750786	C	T	4750786	3	4	348	1	0	0	0	0	1	0	0	0	689	783	27	1		1	ANKS3	16	4750786	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	231439	4750786	85603967	219	65945											
SMG1	23049	broad.mit.edu	37	chr16	18849386	18849386	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctgcgggtgatctctcgctCcatctctctcttgctctgct	2	15	9	15	2	4	1	0	1	4	0	9	1	5	1	1	1	3	4	1	1	0	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:18849386C>G	ENST00000446231.2	-	45	7775	c.7363G>C	c.(7363-7365)Gag>Cag	p.E2455Q	SMG1_ENST00000389467.3_Missense_Mutation_p.E2455Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2455	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATCTCTCGCTCCATCTCTCTC	0.517													7	42					0	0	0	0	G	18849386	C	G	18849386	3	3	348	1	0	0	0	0	1	0	0	0	14883	864	30	2	3698	2	SMG1	16	18849386	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	14098600	18849386	71505367	220	65946											
DCTN5	84516	broad.mit.edu	37	chr16	23678400	23678400	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagctcccggagtgcactCaggagctgatgattgacgtc	8	8	15	10	2	1	3	1	3	0	0	3	6	2	6	1	3	3	3	1	3	0	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:23678400C>T	ENST00000300087.2	+	6	635	c.484C>T	c.(484-486)Cag>Tag	p.Q162*	DCTN5_ENST00000563998.1_3'UTR	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	162						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		GGAGTGCACTCAGGAGCTGAT	0.493													16	77					0	0	0	0	T	23678400	C	T	23678400	4	4	348	1	0	0	0	0	0	1	0	0	4342	827	29	2	506	2	DCTN5	16	23678400	Nonsense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	4829014	23678400	66676353	221	65947											
ZNF668	79759	broad.mit.edu	37	chr16	31075256	31075256	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgaagggtcagcaaagctCttgccgcagtcggcgcaggc	9	6	14	12	3	2	1	1	1	1	0	3	1	2	1	1	3	3	4	1	3	2	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:31075256C>G	ENST00000538906.1	-	2	1309	c.525G>C	c.(523-525)aaG>aaC	p.K175N	ZNF668_ENST00000539836.3_Missense_Mutation_p.K198N|ZNF668_ENST00000535577.1_Missense_Mutation_p.K175N|ZNF668_ENST00000300849.4_Missense_Mutation_p.K175N|ZNF668_ENST00000426488.2_Missense_Mutation_p.K198N|ZNF668_ENST00000394983.2_Missense_Mutation_p.K175N	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAGCAAAGCTCTTGCCGCAGT	0.652													8	16					0	0	0	0	G	31075256	C	G	31075256	3	3	348	1	0	0	0	0	1	0	0	0	18170	912	32	2	1342	2	ZNF668	16	31075256	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	7396856	31075256	59279497	222	65948											
ARMC5	79798	broad.mit.edu	37	chr16	31473901	31473901	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagctagcccaacctccCagcagcccctggtgcgggct	7	6	12	16	1	0	0	0	0	0	0	1	1	1	1	5	3	6	3	5	3	2	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:31473901C>T	ENST00000457010.2	+	3	1734	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*	ARMC5_ENST00000538189.1_Nonsense_Mutation_p.Q377*|ARMC5_ENST00000563544.1_Nonsense_Mutation_p.Q345*|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Nonsense_Mutation_p.Q440*|ARMC5_ENST00000268314.4_Nonsense_Mutation_p.Q345*	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	345							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCCAACCTCCCAGCAGCCCCT	0.652													23	54					0	0	0	0	T	31473901	C	T	31473901	4	4	348	1	0	0	0	0	0	1	0	0	958	595	21	4	1043	4	ARMC5	16	31473901	Nonsense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	398645	31473901	58880852	223	65949											
KIFC3	3801	broad.mit.edu	37	chr16	57796128	57796128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacgccttctcctgcacctCggagaagagcagctgcaggg	9	6	13	13	2	1	3	0	0	1	3	3	4	1	3	3	2	4	4	3	2	1	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:57796128C>T	ENST00000379655.4	-	13	1929	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	KIFC3_ENST00000539578.1_Missense_Mutation_p.E500K|KIFC3_ENST00000540079.2_Missense_Mutation_p.E456K|KIFC3_ENST00000465878.2_Missense_Mutation_p.E419K|KIFC3_ENST00000445690.2_Missense_Mutation_p.E558K|KIFC3_ENST00000421376.2_Missense_Mutation_p.E419K|KIFC3_ENST00000541240.1_Missense_Mutation_p.E580K|KIFC3_ENST00000543930.1_Missense_Mutation_p.E416K|KIFC3_ENST00000562903.1_Missense_Mutation_p.E419K	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	558	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCCTGCACCTCGGAGAAGAGC	0.627													11	4					0	0	0	0	T	57796128	C	T	57796128	3	4	348	1	0	0	0	0	1	0	0	0	8365	893	31	1	866	1	KIFC3	16	57796128	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	26322227	57796128	32558625	224	65950											
RPL13	6137	broad.mit.edu	37	chr16	89627382	89627382	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcagccatggcgcccagccgGaatggcatggtcttgaagcc	8	6	14	13	2	1	1	0	1	1	0	1	2	1	2	4	4	3	2	4	4	2	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr16:89627382G>C	ENST00000393099.3	+	1	264	c.15G>C	c.(13-15)cgG>cgC	p.R5R	RPL13_ENST00000452368.3_Silent_p.R5R|RPL13_ENST00000567815.1_Silent_p.R5R|RPL13_ENST00000311528.5_Silent_p.R5R	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	5					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic ribosome	protein binding|RNA binding|structural constituent of ribosome			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		CGCCCAGCCGGAATGGCATGG	0.726													18	12					0	0	0	0	C	89627382	G	C	89627382	2	2	348	1	0	0	0	0	0	0	0	1	13644	1161	41	2		2	RPL13	16	89627382	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	31831254	89627382	727371	225	65951											
RPA1	6117	broad.mit.edu	37	chr17	1747901	1747901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcgacacagttgaaccctCtcgtggaggaagaacaattg	12	8	12	9	2	1	2	0	1	1	1	2	5	1	4	1	3	2	1	1	3	4	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:1747901C>T	ENST00000254719.5	+	4	303	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	65					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GTTGAACCCTCTCGTGGAGGA	0.433								Nucleotide excision repair (NER)					5	24					0	0	0	0	T	1747901	C	T	1747901	3	4	348	1	0	0	0	0	1	0	0	0	13621	913	32	2	207	2	RPA1	17	1747901	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08		1747901	79447309	226	65952											
ATP2A3	489	broad.mit.edu	37	chr17	3850986	3850986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacggccacgcagatcacaGagatggcgtgggacagctgc	11	4	14	12	3	1	2	1	0	0	2	1	4	1	3	1	3	2	2	1	3	0	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:3850986G>A	ENST00000309890.7	-	8	944	c.794C>T	c.(793-795)tCt>tTt	p.S265F	ATP2A3_ENST00000397041.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000359983.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000397035.3_Missense_Mutation_p.S265F|ATP2A3_ENST00000352011.3_Missense_Mutation_p.S265F	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	265					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCAGATCACAGAGATGGCGTG	0.657													17	33					0	0	0	0	A	3850986	G	A	3850986	3	1	348	1	0	0	0	0	1	0	0	0	1142	942	33	2	2472	2	ATP2A3	17	3850986	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2103085	3850986	77344224	227	65953											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:7578271T>A	ENST00000420246.2	-	6	710	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	37					0	0	0	0	A	7578271	T	A	7578271	3	1	348	1	0	0	0	0	1	0	0	0	16476	1464	51	5	716	5	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-CV-A6JM-01A-11D-A31L-08	3727285	7578271	73616939	228	65954											
TP53	7157	broad.mit.edu	37	chr17	7578463	7578464	+	Frame_Shift_Ins	INS	-	-	GGGT																															gatggccatggcgcggacgcINSgggtgccgggcgggggtgtg																										TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:7578463_7578464insGGGT	ENST00000420246.2	-	5	598_599	c.466_467insACCC	c.(466-468)cgtfs	p.R156fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.R156fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.R156fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.R156fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.R156fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.R156fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R156P(24)|p.R156fs*14(10)|p.R156H(10)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.R156S(3)|p.R156G(3)|p.R156L(3)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156fs*25(2)|p.R156C(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCGCGGACGCGGGTGCCGGGC	0.614		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	78	---	---	---	---					GGGT	7578464	-	GGGT	7578463	7	5	348	1	0	1	1	0	0	0	0	0	16476	768	27	0	831	0	TP53	17	7578463	Frame_Shift_Ins	INS	-	TCGA-CV-A6JM-01A-11D-A31L-08	192	7578463	73616747	229	65955											
CHD3	1107	broad.mit.edu	37	chr17	7809901	7809901	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgttcatgcgccatctGtgtgagcctggggcagacgg	5	12	14	10	2	3	2	1	1	2	1	3	2	3	2	2	3	2	2	2	3	0	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:7809901G>T	ENST00000380358.4	+	29	4567	c.4566G>T	c.(4564-4566)ctG>ctT	p.L1522L	CHD3_ENST00000358181.4_Silent_p.L1463L|CHD3_ENST00000330494.7_Silent_p.L1463L	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1463					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGCGCCATCTGTGTGAGCCTG	0.607													43	111					8.20599e-20	8.98223e-20	1	0	T	7809901	G	T	7809901	2	4	348	1	0	0	0	0	0	0	0	1	3355	1364	48	4		4	CHD3	17	7809901	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	231438	7809901	73385309	230	65956											
MYH13	8735	broad.mit.edu	37	chr17	10204996	10204996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggactctccggcatctggAcagctgcgtgttggcctgct	4	11	13	13	2	2	0	0	0	2	0	3	2	2	2	2	4	3	4	2	4	0	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:10204996A>G	ENST00000418404.3	-	39	5855	c.5692T>C	c.(5692-5694)Tcc>Ccc	p.S1898P	MYH13_ENST00000252172.4_Missense_Mutation_p.S1898P|MYH13_ENST00000570743.1_Missense_Mutation_p.S1898P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1898					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGGCATCTGGACAGCTGCGTG	0.617													15	43					0	0	0	0	G	10204996	A	G	10204996	3	3	348	1	0	0	0	0	1	0	0	0	10102	275	10	5	132	5	MYH13	17	10204996	Missense_Mutation	SNP	A	TCGA-CV-A6JM-01A-11D-A31L-08	2395095	10204996	70990214	231	65957											
NCOR1	9611	broad.mit.edu	37	chr17	16012157	16012157	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaatatcttcatcctcctGagcagaaacagtggaagcga	13	10	8	10	1	3	2	2	1	1	1	5	4	5	3	2	1	3	1	2	1	4	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:16012157G>A	ENST00000268712.3	-	19	2382	c.2125C>T	c.(2125-2127)Cag>Tag	p.Q709*	NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.Q600*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q709*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	709					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.Q709*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCATCCTCCTGAGCAGAAACA	0.388													31	61					0	0	0	0	A	16012157	G	A	16012157	4	1	348	1	0	0	0	0	0	1	0	0	10305	1299	45	2	5309	2	NCOR1	17	16012157	Nonsense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	5807161	16012157	65183053	232	65958											
SREBF1	6720	broad.mit.edu	37	chr17	17722719	17722719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctccgtctgtcttcatgGctgtcagaagcagcgagtct	6	12	12	11	2	5	1	2	0	3	1	6	2	6	1	1	2	2	3	1	2	1	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:17722719G>A	ENST00000355815.4	-	5	1020	c.851C>T	c.(850-852)gCc>gTc	p.A284V	SREBF1_ENST00000395757.1_5'UTR|SREBF1_ENST00000435530.2_Missense_Mutation_p.A254V|SREBF1_ENST00000261646.5_Missense_Mutation_p.A254V|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000338854.5_Missense_Mutation_p.A254V	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	254	Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGTCTTCATGGCTGTCAGAAG	0.632													38	77					0	0	0	0	A	17722719	G	A	17722719	3	1	348	1	0	0	0	0	1	0	0	0	15231	1203	42	4	2746	4	SREBF1	17	17722719	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	1710562	17722719	63472491	233	65959											
KRT19	3880	broad.mit.edu	37	chr17	39684170	39684170	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtaccagtcgcggatcttCacctctagctcgccgttggc	5	11	11	14	4	3	0	1	0	2	0	5	1	3	1	3	3	2	3	3	3	2	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:39684170C>T	ENST00000361566.3	-	1	390	c.330G>A	c.(328-330)gtG>gtA	p.V110V		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CGCGGATCTTCACCTCTAGCT	0.652													38	118					0	0	0	0	T	39684170	C	T	39684170	2	4	348	1	0	0	0	0	0	0	0	1	8508	813	29	2		2	KRT19	17	39684170	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	21961451	39684170	41511040	234	65960											
ATXN7L3	56970	broad.mit.edu	37	chr17	42271732	42271732	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagtccctaccaggctcaGatgggatttctttttcttgg	6	14	11	10	0	3	1	1	0	2	1	4	2	4	2	2	4	1	2	2	4	1	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:42271732G>C	ENST00000389384.4	-	12	1251	c.943C>G	c.(943-945)Ctg>Gtg	p.L315V	ATXN7L3_ENST00000454077.2_Missense_Mutation_p.L322V|ATXN7L3_ENST00000593073.1_5'UTR	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	315					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACCAGGCTCAGATGGGATTTC	0.522													27	100					0	0	0	0	C	42271732	G	C	42271732	3	2	348	1	0	0	0	0	1	0	0	0	1222	933	33	2	104	2	ATXN7L3	17	42271732	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2587562	42271732	38923478	235	65961											
UBTF	7343	broad.mit.edu	37	chr17	42288225	42288225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagctcgctctcggagaGctcaggccgctcctcctgca	5	8	12	16	3	3	1	2	0	1	1	7	2	5	1	3	3	3	5	3	3	0	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:42288225G>A	ENST00000302904.4	-	13	1786	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	UBTF_ENST00000529383.1_Missense_Mutation_p.L432F|UBTF_ENST00000533177.1_Missense_Mutation_p.L395F|UBTF_ENST00000393606.3_Missense_Mutation_p.L395F|UBTF_ENST00000343638.5_Missense_Mutation_p.L395F|UBTF_ENST00000526094.1_Missense_Mutation_p.L395F|UBTF_ENST00000436088.1_Missense_Mutation_p.L432F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000527034.1_Missense_Mutation_p.L395F			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	432					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTCTCGGAGAGCTCAGGCCGC	0.667													6	7					0	0	0	0	A	42288225	G	A	42288225	3	1	348	1	0	0	0	0	1	0	0	0	17005	971	34	4	1036	4	UBTF	17	42288225	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	16493	42288225	38906985	236	65962											
ACBD4	79777	broad.mit.edu	37	chr17	43220990	43220990	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactatcttgctgtgccctGagccttcctagggtttagaa	8	13	10	10	0	1	3	0	1	1	2	2	3	2	3	3	1	3	2	3	1	4	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:43220990G>A	ENST00000431281.1	+	12	1477	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	ACBD4_ENST00000321854.8_3'UTR|ACBD4_ENST00000592162.1_3'UTR|ACBD4_ENST00000591859.1_Silent_p.L336L|ACBD4_ENST00000398322.3_3'UTR|ACBD4_ENST00000586346.1_Silent_p.L336L	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	0							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						GCTGTGCCCTGAGCCTTCCTA	0.542													17	55					0	0	0	0	A	43220990	G	A	43220990	2	1	348	1	0	0	0	0	0	0	0	1	124	1277	45	2		2	ACBD4	17	43220990	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	932765	43220990	37974220	237	65963											
SEPT4	5414	broad.mit.edu	37	chr17	56604060	56604060	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tacctcagaggaatcataggGatcaagcttgccccatgggc	11	8	11	11	0	3	1	3	0	0	1	3	3	3	3	3	3	3	1	3	3	4	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:56604060G>C	ENST00000583114.1	-	0	435				SEPT4_ENST00000457347.2_Missense_Mutation_p.P129A|SEPT4_ENST00000426861.1_Missense_Mutation_p.P95A|SEPT4_ENST00000412945.3_Missense_Mutation_p.P106A|SEPT4_ENST00000393086.1_Missense_Mutation_p.P95A|SEPT4_ENST00000317256.6_Missense_Mutation_p.P95A|SEPT4_ENST00000317268.3_Missense_Mutation_p.P114A|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580844.1_Intron|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000579371.1_Intron	NM_001256822.1	NP_001243751.1	O43236	SEPT4_HUMAN	septin 4						apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAATCATAGGGATCAAGCTTG	0.637													7	98					0	0	0	0	C	56604060	G	C	56604060	1	2	348	1	0	0	0	0	0	0	0	0	14153	1174	41	2		2	SEPT4	17	56604060	Translation_Start_Site	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	13383070	56604060	24591150	238	65964											
CLTC	1213	broad.mit.edu	37	chr17	57762435	57762435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctctgcgaacatcaataGatgcttatgacaactttgac	13	11	8	9	1	2	3	1	2	1	1	2	4	2	3	0	1	4	2	0	1	5	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:57762435G>A	ENST00000269122.3	+	29	4727	c.4453G>A	c.(4453-4455)Gat>Aat	p.D1485N	CLTC_ENST00000393043.1_Missense_Mutation_p.D1485N|CLTC_ENST00000579456.1_Missense_Mutation_p.D422N	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1485	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AACATCAATAGATGCTTATGA	0.373			T	"ALK, TFE3"	"ALCL, renal "								27	109					0	0	0	0	A	57762435	G	A	57762435	3	1	348	1	0	0	0	0	1	0	0	0	3596	942	33	2	4567	2	CLTC	17	57762435	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	1158375	57762435	23432775	239	65965											
RPS6KB1	6198	broad.mit.edu	37	chr17	57970560	57970560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggcccatgaggcgacgaagGaggcgggacggcttttaccc	8	5	17	11	4	0	1	0	1	0	0	0	5	0	3	2	6	1	1	2	6	2	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:57970560G>A	ENST00000225577.4	+	1	36	c.15G>A	c.(13-15)agG>agA	p.R5R	RPS6KB1_ENST00000443572.2_Silent_p.R5R|RPS6KB1_ENST00000406116.3_Silent_p.R5R	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	5					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			GGCGACGAAGGAGGCGGGACG	0.657													6	25					0	0	0	0	A	57970560	G	A	57970560	2	1	348	1	0	0	0	0	0	0	0	1	13741	1165	41	2		2	RPS6KB1	17	57970560	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	208125	57970560	23224650	240	65966											
TLK2	11011	broad.mit.edu	37	chr17	60673966	60673966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcatgtagggaataccGgattcataaagagctggatc	13	9	12	7	1	1	1	1	0	0	1	2	4	1	4	1	3	3	4	1	3	5	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:60673966G>A	ENST00000582809.1	+	18	1737	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q	TLK2_ENST00000346027.5_Missense_Mutation_p.R494Q|TLK2_ENST00000326270.9_Missense_Mutation_p.R516Q|TLK2_ENST00000542523.1_Missense_Mutation_p.R462Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R462Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	516					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGGGAATACCGGATTCATAAA	0.378													31	157					0	0	0	0	A	60673966	G	A	60673966	3	1	348	1	0	0	0	0	1	0	0	0	16038	1116	39	1	1543	1	TLK2	17	60673966	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2703406	60673966	20521244	241	65967											
STRADA	92335	broad.mit.edu	37	chr17	61791450	61791450	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagaaggatgctattgactCtgagctcgcatcattggtct	10	12	11	8	1	3	3	1	2	2	1	4	5	3	4	0	2	2	3	0	2	2	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:61791450C>G	ENST00000392950.4	-	3	304	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000582137.1_Missense_Mutation_p.E19Q|STRADA_ENST00000447001.3_Intron|STRADA_ENST00000580039.1_Intron|STRADA_ENST00000375840.4_5'UTR|STRADA_ENST00000336174.6_Missense_Mutation_p.E48Q|STRADA_ENST00000579340.1_5'UTR|STRADA_ENST00000245865.5_5'UTR	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	48					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GCTATTGACTCTGAGCTCGCA	0.483													32	117					0	0	0	0	G	61791450	C	G	61791450	3	3	348	1	0	0	0	0	1	0	0	0	15414	922	32	2	1247	2	STRADA	17	61791450	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1117484	61791450	19403760	242	65968											
SMURF2	64750	broad.mit.edu	37	chr17	62559052	62559052	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacataacgataccacttgcTgttgctgttggtctttcaat	9	15	8	9	1	2	0	1	0	1	0	2	2	2	0	1	1	4	4	1	1	3	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:62559052T>A	ENST00000262435.9	-	11	1236	c.1049A>T	c.(1048-1050)cAg>cTg	p.Q350L	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	350					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TACCACTTGCTGTTGCTGTTG	0.353													15	30					0	0	0	0	A	62559052	T	A	62559052	3	1	348	1	0	0	0	0	1	0	0	0	14908	1580	55	5	1233	5	SMURF2	17	62559052	Missense_Mutation	SNP	T	TCGA-CV-A6JM-01A-11D-A31L-08	767602	62559052	18636158	243	65969											
GNA13	10672	broad.mit.edu	37	chr17	63010817	63010817	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaaacattcaaaccaacgtTtcctttctgatctctgacca	12	12	4	13	2	3	2	1	2	2	0	5	3	4	2	3	0	3	1	3	0	3	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:63010817T>A	ENST00000439174.2	-	4	937	c.692A>T	c.(691-693)aAa>aTa	p.K231I	GNA13_ENST00000541118.1_Missense_Mutation_p.K136I	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	231					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						AAACCAACGTTTCCTTTCTGA	0.408													39	76					0	0	0	0	A	63010817	T	A	63010817	3	1	348	1	0	0	0	0	1	0	0	0	6552	1841	64	5	445	5	GNA13	17	63010817	Missense_Mutation	SNP	T	TCGA-CV-A6JM-01A-11D-A31L-08	451765	63010817	18184393	244	65970											
PITPNC1	26207	broad.mit.edu	37	chr17	65671646	65671646	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacaggcttttgcatgggttGatgagtggtatggtaagtca	9	13	15	4	0	1	2	1	2	0	0	1	3	1	2	0	4	1	5	0	4	2	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:65671646G>C	ENST00000580974.1	+	8	1366	c.670G>C	c.(670-672)Gat>Cat	p.D224H	PITPNC1_ENST00000581322.1_Missense_Mutation_p.D224H|PITPNC1_ENST00000335257.6_Missense_Mutation_p.D224H|PITPNC1_ENST00000299954.9_Missense_Mutation_p.D224H	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	224					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TGCATGGGTTGATGAGTGGTA	0.398													31	138					0	0	0	0	C	65671646	G	C	65671646	3	2	348	1	0	0	0	0	1	0	0	0	12021	1290	45	2	700	2	PITPNC1	17	65671646	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2660829	65671646	15523564	245	65971											
NOL11	25926	broad.mit.edu	37	chr17	65717547	65717547	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagggacagaacccttggtGctcttcaaggaaggtgctgt	10	9	13	9	0	2	1	1	0	1	1	2	3	2	3	1	4	3	2	1	4	4	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:65717547G>A	ENST00000253247.4	+	4	481	c.366G>A	c.(364-366)gtG>gtA	p.V122V	NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	122						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACCCTTGGTGCTCTTCAAGG	0.373													28	139					0	0	0	0	A	65717547	G	A	65717547	2	1	348	1	0	0	0	0	0	0	0	1	10591	1306	46	4		4	NOL11	17	65717547	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	45901	65717547	15477663	246	65972											
RECQL5	9400	broad.mit.edu	37	chr17	73654511	73654511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtagtacccagccataGacttggcaatattccaatgg	11	10	9	11	0	0	1	0	0	0	1	1	1	1	1	4	3	2	3	4	3	6	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:73654511G>T	ENST00000420326.2	-	7	1175	c.1016C>A	c.(1015-1017)tCt>tAt	p.S339Y	RECQL5_ENST00000317905.5_Missense_Mutation_p.S339Y|RECQL5_ENST00000340830.5_Missense_Mutation_p.S339Y|RECQL5_ENST00000423245.2_Missense_Mutation_p.S312Y|RECQL5_ENST00000584999.1_Missense_Mutation_p.S339Y	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	339	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCAGCCATAGACTTGGCAAT	0.542								Other identified genes with known or suspected DNA repair function					91	159					6.65942e-36	7.49185e-36	1	0	T	73654511	G	T	73654511	3	4	348	1	0	0	0	0	1	0	0	0	13285	942	33	2	2102	2	RECQL5	17	73654511	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	7936964	73654511	7540699	247	65973											
CCDC57	284001	broad.mit.edu	37	chr17	80130728	80130728	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttcttcttcatgctgcctGagaagcatctgtcaaataca	11	14	6	10	0	5	1	2	1	3	1	5	2	5	1	1	0	4	2	1	0	3	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr17:80130728G>A	ENST00000389641.4	-	11	1551	c.1515C>T	c.(1513-1515)ctC>ctT	p.L505L	CCDC57_ENST00000392343.3_Silent_p.L505L|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Silent_p.L505L			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	505										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CATGCTGCCTGAGAAGCATCT	0.512													4	10					0	0	0	0	A	80130728	G	A	80130728	2	1	348	1	0	0	0	0	0	0	0	1	2854	1277	45	2		2	CCDC57	17	80130728	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	6476217	80130728	1064482	248	65974											
GNAL	2774	broad.mit.edu	37	chr18	11752440	11752440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgggcaggcatggggtGtttgggcggcaacagcaaga	9	5	18	9	2	0	1	0	0	0	1	0	1	0	1	1	6	3	5	1	6	2	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:11752440G>A	ENST00000423027.3	+	1	329	c.8G>A	c.(7-9)tGt>tAt	p.C3Y	GNAL_ENST00000269162.5_Missense_Mutation_p.C3Y|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000535121.1_Missense_Mutation_p.C3Y			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	3					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GGCATGGGGTGTTTGGGCGGC	0.567													45	129					0	0	0	0	A	11752440	G	A	11752440	3	1	348	1	0	0	0	0	1	0	0	0	6558	1377	48	4	390	4	GNAL	18	11752440	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08		11752440	66324808	249	65975											
NOL4	8715	broad.mit.edu	37	chr18	31538230	31538230	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcagccgctcggcttcAacgccgtctgtctcattaac	6	12	8	15	4	4	0	3	0	2	0	6	0	4	0	2	1	3	3	2	1	2	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:31538230A>T	ENST00000261592.5	-	7	1506	c.1209T>A	c.(1207-1209)gtT>gtA	p.V403V	NOL4_ENST00000269185.4_Silent_p.V289V|NOL4_ENST00000538587.1_Silent_p.V329V|NOL4_ENST00000535475.1_Silent_p.V248V|NOL4_ENST00000535384.1_Silent_p.V118V|NOL4_ENST00000589544.1_Silent_p.V403V	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	403						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCTCGGCTTCAACGCCGTCTG	0.473													11	60					0	0	0	0	T	31538230	A	T	31538230	2	4	348	1	0	0	0	0	0	0	0	1	10594	117	5	5		5	NOL4	18	31538230	Silent	SNP	A	TCGA-CV-A6JM-01A-11D-A31L-08	19785790	31538230	46539018	250	65976											
DTNA	1837	broad.mit.edu	37	chr18	32438277	32438277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacaggagatccagagacttCggctagagcatgaacaagct	14	7	11	9	1	0	4	0	1	0	3	2	6	1	4	1	2	4	3	1	2	4	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:32438277C>T	ENST00000283365.9	+	15	1660	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	DTNA_ENST00000269190.7_Missense_Mutation_p.R495W|DTNA_ENST00000269192.7_Missense_Mutation_p.R203W|DTNA_ENST00000399121.5_Missense_Mutation_p.R434W|DTNA_ENST00000596745.1_Missense_Mutation_p.R244W|DTNA_ENST00000399113.3_Missense_Mutation_p.R494W|DTNA_ENST00000597674.1_Missense_Mutation_p.R116W|DTNA_ENST00000601125.1_Missense_Mutation_p.R116W|DTNA_ENST00000597599.1_Missense_Mutation_p.R434W|DTNA_ENST00000348997.5_Missense_Mutation_p.R491W|DTNA_ENST00000556414.3_Missense_Mutation_p.R146W|DTNA_ENST00000444659.1_Missense_Mutation_p.R494W|DTNA_ENST00000599844.1_Missense_Mutation_p.R116W|DTNA_ENST00000269191.6_Missense_Mutation_p.R494W|DTNA_ENST00000598142.1_Missense_Mutation_p.R437W|DTNA_ENST00000598774.1_Missense_Mutation_p.R437W|DTNA_ENST00000399097.3_Missense_Mutation_p.R142W|DTNA_ENST00000591182.1_Missense_Mutation_p.R142W|DTNA_ENST00000595022.1_Missense_Mutation_p.R434W|DTNA_ENST00000598334.1_Missense_Mutation_p.R434W	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	494	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.R494W(1)|p.R142W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCAGAGACTTCGGCTAGAGCA	0.522													11	27					0	0	0	0	T	32438277	C	T	32438277	3	4	348	1	0	0	0	0	1	0	0	0	4824	875	31	1	1573	1	DTNA	18	32438277	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	900047	32438277	45638971	251	65977											
CXXC1	30827	broad.mit.edu	37	chr18	47812185	47812185	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttggggcccccgaacttCttcatgtcccgacagaaatc	8	11	9	13	2	2	1	1	0	1	1	4	3	3	1	3	2	1	1	3	2	2	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:47812185C>T	ENST00000285106.6	-	5	1287	c.573G>A	c.(571-573)aaG>aaA	p.K191K	CXXC1_ENST00000412036.2_Silent_p.K191K|CXXC1_ENST00000589940.1_Silent_p.K191K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	191					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCCGAACTTCTTCATGTCCC	0.617													37	71					0	0	0	0	T	47812185	C	T	47812185	2	4	348	1	0	0	0	0	0	0	0	1	4129	912	32	2		2	CXXC1	18	47812185	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	15373908	47812185	30265063	252	65978											
DCC	1630	broad.mit.edu	37	chr18	51025691	51025691	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgaaggaccaactaccCaacaaccacctatgctgccc	13	6	7	15	0	0	2	0	2	0	0	0	3	0	3	5	1	6	1	5	1	6	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:51025691C>T	ENST00000442544.2	+	27	4538	c.3922C>T	c.(3922-3924)Caa>Taa	p.Q1308*	DCC_ENST00000581580.1_Nonsense_Mutation_p.Q941*|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1308					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACCAACTACCCAACAACCACC	0.512													11	51					0	0	0	0	T	51025691	C	T	51025691	4	4	348	1	0	0	0	0	0	1	0	0	4314	595	21	4	4028	4	DCC	18	51025691	Nonsense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	3213506	51025691	27051557	253	65979											
NEDD4L	23327	broad.mit.edu	37	chr18	56008370	56008370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatgtcaatcataacaatcGaaccacaacttggactcgac	15	9	5	12	2	2	0	2	0	0	0	4	3	2	1	1	1	3	0	1	1	6	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:56008370G>A	ENST00000456986.1	+	14	1463	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	NEDD4L_ENST00000435432.2_Missense_Mutation_p.R268Q|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R268Q|NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R268Q|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R288Q|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R381Q|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R401Q|NEDD4L_ENST00000400345.3_Missense_Mutation_p.R409Q|NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R389Q	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	409					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CATAACAATCGAACCACAACT	0.483													8	14					0	0	0	0	A	56008370	G	A	56008370	3	1	348	1	0	0	0	0	1	0	0	0	10381	1058	37	1	1308	1	NEDD4L	18	56008370	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	4982679	56008370	22068878	254	65980											
SERPINB12	89777	broad.mit.edu	37	chr18	61225714	61225714	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacgacagagcctctggatCagcaggtgaaccgccaccgt	12	5	11	13	3	2	2	1	1	1	1	2	4	2	3	4	2	4	1	4	2	2	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:61225714C>T	ENST00000382768.1	+	2	298	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	SERPINB12_ENST00000269491.1_Intron			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	81					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GCCTCTGGATCAGCAGGTGAA	0.443													6	17					0	0	0	0	T	61225714	C	T	61225714	4	4	348	1	0	0	0	0	0	1	0	0	14186	841	29	2		2	SERPINB12	18	61225714	Nonsense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	5217344	61225714	16851534	255	65981											
CDH7	1005	broad.mit.edu	37	chr18	63477171	63477171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaaattcaggatatcaacGacaatgaacccaaatttttg	17	11	5	8	1	3	1	3	1	0	0	3	3	3	2	1	1	2	0	1	1	7	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:63477171G>A	ENST00000536984.2	+	3	1136	c.442G>A	c.(442-444)Gac>Aac	p.D148N	CDH7_ENST00000397968.2_Missense_Mutation_p.D148N|CDH7_ENST00000323011.3_Missense_Mutation_p.D148N			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	148	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGATATCAACGACAATGAACC	0.512													13	60					0	0	0	0	A	63477171	G	A	63477171	3	1	348	1	0	0	0	0	1	0	0	0	3144	1058	37	1	448	1	CDH7	18	63477171	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2251457	63477171	14600077	256	65982											
ZNF407	55628	broad.mit.edu	37	chr18	72345099	72345099	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcctcagtttcagtgtaaGaagtgtttttataaaacaag	15	13	8	5	0	2	1	2	0	0	1	2	1	2	1	1	0	2	3	1	0	7	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:72345099G>C	ENST00000299687.5	+	1	2124	c.2124G>C	c.(2122-2124)aaG>aaC	p.K708N	ZNF407_ENST00000582337.1_Missense_Mutation_p.K708N|ZNF407_ENST00000309902.6_Missense_Mutation_p.K708N|ZNF407_ENST00000577538.1_Missense_Mutation_p.K708N	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTCAGTGTAAGAAGTGTTTTT	0.393													7	21					0	0	0	0	C	72345099	G	C	72345099	3	2	348	1	0	0	0	0	1	0	0	0	17982	933	33	2	2126	2	ZNF407	18	72345099	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	8867928	72345099	5732149	257	65983											
CTDP1	9150	broad.mit.edu	37	chr18	77477674	77477674	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgatcacaccaaggcacaGaggtgggtcctcgctgcacc	10	5	12	14	2	1	1	1	0	0	1	3	3	2	1	3	3	1	3	3	3	1	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr18:77477674G>A	ENST00000299543.7	+	9	2355	c.2208G>A	c.(2206-2208)caG>caA	p.Q736Q	CTDP1_ENST00000075430.7_Silent_p.Q736Q	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	736					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCAAGGCACAGAGGTGGGTCC	0.647													25	48					0	0	0	0	A	77477674	G	A	77477674	2	1	348	1	0	0	0	0	0	0	0	1	4034	933	33	2		2	CTDP1	18	77477674	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	5132575	77477674	599574	258	65984											
GRIN3B	116444	broad.mit.edu	37	chr19	1005181	1005181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcatcatggtgcgggcacggGacacggcctcacccatcggt	7	6	14	14	4	2	0	2	0	0	0	3	1	2	1	2	5	1	2	2	5	0	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:1005181G>A	ENST00000234389.3	+	3	1700	c.1681G>A	c.(1681-1683)Gac>Aac	p.D561N	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	561					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCGGGCACGGGACACGGCCTC	0.652													21	86					0	0	0	0	A	1005181	G	A	1005181	3	1	348	1	0	0	0	0	1	0	0	0	6834	1174	41	2	1691	2	GRIN3B	19	1005181	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08		1005181	58123802	259	65985											
DENND1C	79958	broad.mit.edu	37	chr19	6476963	6476963	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagtcacggccaccaccaGctccgttaggttcctctgag	7	9	10	15	2	3	1	2	1	1	0	5	1	5	1	5	2	1	3	5	2	1	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:6476963G>A	ENST00000381480.2	-	10	695	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	DENND1C_ENST00000543576.1_Silent_p.L151L	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	195	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCCACCACCAGCTCCGTTAGG	0.642													30	37					0	0	0	0	A	6476963	G	A	6476963	2	1	348	1	0	0	0	0	0	0	0	1	4465	962	34	4		4	DENND1C	19	6476963	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	5471782	6476963	52652020	260	65986											
HNRNPM	4670	broad.mit.edu	37	chr19	8550805	8550805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcggccttgagcgcatggCcgctcccatcgaccgtgtgg	4	9	13	15	5	0	1	0	1	0	0	3	2	1	1	4	3	1	2	4	3	0	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:8550805C>T	ENST00000348943.3	+	15	1608	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	HNRNPM_ENST00000325495.4_Missense_Mutation_p.A498V	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	498	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGCGCATGGCCGCTCCCATC	0.677													4	141					0	0	0	0	T	8550805	C	T	8550805	3	4	348	1	0	0	0	0	1	0	0	0	7321	739	26	4	1547	4	HNRNPM	19	8550805	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	2073842	8550805	50578178	261	65987											
ACTL9	284382	broad.mit.edu	37	chr19	8808726	8808726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcaggggttgcaccagcGtcagctctgggagcacgcgg	6	6	17	12	4	2	0	1	0	1	0	2	1	2	1	1	4	5	5	1	4	0	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:8808726G>A	ENST00000324436.3	-	1	446	c.326C>T	c.(325-327)aCg>aTg	p.T109M		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	109						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TTGCACCAGCGTCAGCTCTGG	0.701													20	37					0	0	0	0	A	8808726	G	A	8808726	3	1	348	1	0	0	0	0	1	0	0	0	203	1145	40	1	928	1	ACTL9	19	8808726	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	257921	8808726	50320257	262	65988											
MUC16	94025	broad.mit.edu	37	chr19	9048002	9048002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccagaactagtgaccagtGaagtcaccagcccttgtaca	13	7	8	13	0	1	3	1	2	0	1	1	3	1	3	4	0	3	1	4	0	4	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:9048002G>A	ENST00000397910.4	-	5	33832	c.33629C>T	c.(33628-33630)tCa>tTa	p.S11210L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11212	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						AGTGACCAGTGAAGTCACCAG	0.493													3	27					0	0	0	0	A	9048002	G	A	9048002	3	1	348	1	0	0	0	0	1	0	0	0	10043	1294	45	2	10214	2	MUC16	19	9048002	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	239276	9048002	50080981	263	65989											
ZNF266	10781	broad.mit.edu	37	chr19	9525388	9525388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgacctcccctccgttgtgGcttcctatctgttgataaag	6	14	8	13	1	1	2	0	2	1	0	4	2	4	2	5	1	0	3	5	1	3	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:9525388G>T	ENST00000592904.1	-	5	2289	c.213C>A	c.(211-213)agC>agA	p.S71R	ZNF266_ENST00000361451.2_Missense_Mutation_p.S71R|ZNF266_ENST00000588221.1_Missense_Mutation_p.S71R|ZNF266_ENST00000592292.1_Missense_Mutation_p.S71R|ZNF266_ENST00000590306.1_Missense_Mutation_p.S71R|ZNF266_ENST00000361151.1_Missense_Mutation_p.S71R|ZNF266_ENST00000588933.1_Missense_Mutation_p.S71R			Q14584	ZN266_HUMAN	zinc finger protein 266	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CTCCGTTGTGGCTTCCTATCT	0.408													43	56					3.66854e-30	4.10431e-30	1	0	T	9525388	G	T	9525388	3	4	348	1	0	0	0	0	1	0	0	0	17900	1194	42	4	1440	4	ZNF266	19	9525388	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	477386	9525388	49603595	264	65990											
FBXL12	54850	broad.mit.edu	37	chr19	9921884	9921884	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatctcggaggtggcggctGatggccagcagggtgctgtc	6	8	17	10	2	1	1	0	1	1	0	3	2	1	2	1	6	2	3	1	6	0	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:9921884G>A	ENST00000247977.4	-	3	910	c.669C>T	c.(667-669)atC>atT	p.I223I	FBXL12_ENST00000585379.1_Silent_p.I170I|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000591009.1_Silent_p.I170I|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	223							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GGTGGCGGCTGATGGCCAGCA	0.672													17	42					0	0	0	0	A	9921884	G	A	9921884	2	1	348	1	0	0	0	0	0	0	0	1	5753	1280	45	2		2	FBXL12	19	9921884	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	396496	9921884	49207099	265	65991											
ATG4D	84971	broad.mit.edu	37	chr19	10663602	10663602	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagagcggtaccccatgttCaccctggccgagggccatgc	8	6	12	15	2	1	1	1	0	0	1	1	2	1	1	5	3	3	2	5	3	1	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:10663602C>T	ENST00000309469.4	+	10	1457	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	ATG4D_ENST00000540862.1_Silent_p.F95F	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	428					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACCCCATGTTCACCCTGGCCG	0.652													37	107					0	0	0	0	T	10663602	C	T	10663602	2	4	348	1	0	0	0	0	0	0	0	1	1103	825	29	2		2	ATG4D	19	10663602	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	741718	10663602	48465381	266	65992											
WDR83	84292	broad.mit.edu	37	chr19	12781380	12781380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaataactttctcagaagGtgaacacggtgcagtttaat	13	11	10	7	1	1	2	1	1	1	1	2	2	1	2	0	3	3	3	0	3	5	4			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:12781380G>T	ENST00000418543.3	+	6	683	c.334G>T	c.(334-336)Gtg>Ttg	p.V112L	WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.V112L|WDR83OS_ENST00000600694.1_Intron	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	112					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						TTCTCAGAAGGTGAACACGGT	0.577													73	350					1.14856e-27	1.28146e-27	1	0	T	12781380	G	T	12781380	3	4	348	1	0	0	0	0	1	0	0	0	17428	1261	44	4	348	4	WDR83	19	12781380	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2117778	12781380	46347603	267	65993											
JUNB	3726	broad.mit.edu	37	chr19	12903302	12903302	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgcggcgcctccaccttCaaggaggaaccgcagaccgt	8	4	13	16	5	1	1	1	0	0	1	2	3	2	3	6	4	1	1	6	4	2	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:12903302C>T	ENST00000302754.4	+	1	993	c.717C>T	c.(715-717)ttC>ttT	p.F239F		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	239						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CCTCCACCTTCAAGGAGGAAC	0.706													5	12					0	0	0	0	T	12903302	C	T	12903302	2	4	348	1	0	0	0	0	0	0	0	1	8023	825	29	2		2	JUNB	19	12903302	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	121922	12903302	46225681	268	65994											
JUNB	3726	broad.mit.edu	37	chr19	12903392	12903392	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggaagaccaagagcgcatCaaagtggagcgcaagcggct	14	4	14	9	3	1	2	1	0	0	2	1	4	1	4	1	3	3	3	1	3	4	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:12903392C>G	ENST00000302754.4	+	1	1083	c.807C>G	c.(805-807)atC>atG	p.I269M		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	269						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						AAGAGCGCATCAAAGTGGAGC	0.682													3	6					0	0	0	0	G	12903392	C	G	12903392	3	3	348	1	0	0	0	0	1	0	0	0	8023	816	29	2	809	2	JUNB	19	12903392	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	90	12903392	46225591	269	65995											
MAST1	22983	broad.mit.edu	37	chr19	12985309	12985309	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgcggcccggggctaaGgctgtggtgcctcagcctct	3	8	15	15	3	2	0	1	0	1	0	2	0	2	0	4	5	3	2	4	5	1	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:12985309G>A	ENST00000251472.4	+	26	4377	c.4338G>A	c.(4336-4338)aaG>aaA	p.K1446K		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1446					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCGGGGCTAAGGCTGTGGTGC	0.736													7	33					0	0	0	0	A	12985309	G	A	12985309	2	1	348	1	0	0	0	0	0	0	0	1	9393	991	35	4		4	MAST1	19	12985309	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	81917	12985309	46143674	270	65996											
CC2D1A	54862	broad.mit.edu	37	chr19	14023231	14023231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggacggatgaggacgacttgGaggctgatgatgacctgctg	9	8	17	7	2	0	4	0	4	0	0	0	9	0	8	1	5	1	2	1	5	0	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:14023231G>A	ENST00000318003.7	+	3	533	c.292G>A	c.(292-294)Gag>Aag	p.E98K	CC2D1A_ENST00000589606.1_Missense_Mutation_p.E98K	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	98					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGACGACTTGGAGGCTGATGA	0.627													13	23					0	0	0	0	A	14023231	G	A	14023231	3	1	348	1	0	0	0	0	1	0	0	0	2751	1175	41	2	302	2	CC2D1A	19	14023231	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	1037922	14023231	45105752	271	65997											
KLHL26	55295	broad.mit.edu	37	chr19	18779737	18779737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggtgccggcggccgcatCtatgccctcgggggccgcat	3	7	17	14	5	1	0	0	0	1	0	2	0	1	0	4	5	2	2	4	5	1	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:18779737C>T	ENST00000300976.4	+	3	1620	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	510										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGCCGCATCTATGCCCTCG	0.682													29	98					0	0	0	0	T	18779737	C	T	18779737	2	4	348	1	0	0	0	0	0	0	0	1	8433	903	32	2		2	KLHL26	19	18779737	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	4756506	18779737	40349246	272	65998											
ZNF682	91120	broad.mit.edu	37	chr19	20117530	20117530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaaaggcttttccacattCttcacatttgtagggtttct	8	17	8	8	0	3	1	1	1	2	0	4	1	4	1	1	2	0	3	1	2	2	7			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:20117530C>G	ENST00000397165.2	-	4	941	c.781G>C	c.(781-783)Gaa>Caa	p.E261Q	ZNF682_ENST00000397162.1_Missense_Mutation_p.E229Q|ZNF682_ENST00000358523.5_Missense_Mutation_p.E229Q|ZNF682_ENST00000597972.1_Missense_Mutation_p.E267Q|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.E185Q	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTCCACATTCTTCACATTTG	0.393													13	46					0	0	0	0	G	20117530	C	G	20117530	3	3	348	1	0	0	0	0	1	0	0	0	18184	922	32	2	719	2	ZNF682	19	20117530	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1337793	20117530	39011453	273	65999											
ZNF486	90649	broad.mit.edu	37	chr19	20308487	20308487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggagagaaaccgtacaCgtgtgataaatgtggcaaag	15	8	12	6	2	0	2	0	1	0	1	0	4	0	3	1	2	3	2	1	2	6	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:20308487C>T	ENST00000335117.8	+	4	1025	c.968C>T	c.(967-969)aCg>aTg	p.T323M	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AAACCGTACACGTGTGATAAA	0.393													10	45					0	0	0	0	T	20308487	C	T	20308487	3	4	348	1	0	0	0	0	1	0	0	0	18034	536	19	1	982	1	ZNF486	19	20308487	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	190957	20308487	38820496	274	66000											
ZNF737	100129842	broad.mit.edu	37	chr19	20728688	20728688	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaactgtaaattgtcatgTccatagttttcatatcttct	11	19	4	7	0	4	0	2	0	2	0	5	0	5	0	1	0	1	2	1	0	6	8			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:20728688T>C	ENST00000427401.4	-	4	415	c.321A>G	c.(319-321)ggA>ggG	p.G107G		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	107					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AATTGTCATGTCCATAGTTTT	0.368													32	44					0	0	0	0	C	20728688	T	C	20728688	2	2	348	1	0	0	0	0	0	0	0	1	18220	1654	58	5		5	ZNF737	19	20728688	Silent	SNP	T	TCGA-CV-A6JM-01A-11D-A31L-08	420201	20728688	38400295	275	66001											
TSHZ3	57616	broad.mit.edu	37	chr19	31768688	31768688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccatcccgcggggggctggGgctgttctcctggctgcgga	2	8	17	14	3	1	0	0	0	1	0	3	1	2	1	3	7	1	4	3	7	0	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:31768688G>A	ENST00000240587.4	-	2	2338	c.2011C>T	c.(2011-2013)Ccc>Tcc	p.P671S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	671					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGGGGGCTGGGGCTGTTCTCC	0.662													12	65					0	0	0	0	A	31768688	G	A	31768688	3	1	348	1	0	0	0	0	1	0	0	0	16720	1232	43	4	1238	4	TSHZ3	19	31768688	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	11040000	31768688	27360295	276	66002											
WDR62	284403	broad.mit.edu	37	chr19	36583698	36583698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacacaaatgacaagaagcGgagtggccaccccaggtcct	13	4	11	13	1	0	2	0	1	0	1	1	3	1	3	4	3	1	1	4	3	3	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:36583698G>A	ENST00000401500.2	+	19	2353	c.2318G>A	c.(2317-2319)cGg>cAg	p.R773Q	WDR62_ENST00000270301.7_Missense_Mutation_p.R773Q	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	773					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACAAGAAGCGGAGTGGCCAC	0.622													70	158					0	0	0	0	A	36583698	G	A	36583698	3	1	348	1	0	0	0	0	1	0	0	0	17409	1116	39	1	2392	1	WDR62	19	36583698	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	4815010	36583698	22545285	277	66003											
FBXO27	126433	broad.mit.edu	37	chr19	39517548	39517548	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttccactgcgggatgggatCaggcacagcagagaatttat	11	9	13	8	1	1	1	1	0	0	1	2	4	2	3	1	3	2	3	1	3	2	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:39517548C>G	ENST00000292853.4	-	5	789	c.670G>C	c.(670-672)Gat>Cat	p.D224H	FBXO27_ENST00000600828.1_Missense_Mutation_p.D223H|FBXO27_ENST00000509137.2_Missense_Mutation_p.D224H	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	224	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGATGGGATCAGGCACAGCA	0.532													14	265					0	0	0	0	G	39517548	C	G	39517548	3	3	348	1	0	0	0	0	1	0	0	0	5782	826	29	2	189	2	FBXO27	19	39517548	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	2933850	39517548	19611435	278	66004											
SPTBN4	57731	broad.mit.edu	37	chr19	41026013	41026013	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggcgcacatctaccagctCttcctgcgggatctacgcca	8	8	9	16	3	3	0	0	0	3	0	4	1	4	1	3	2	4	2	3	2	2	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41026013C>T	ENST00000352632.3	+	16	3695	c.3609C>T	c.(3607-3609)ctC>ctT	p.L1203L	SPTBN4_ENST00000598249.1_Silent_p.L1203L|SPTBN4_ENST00000595535.1_Silent_p.L1203L|SPTBN4_ENST00000344104.3_Silent_p.L1203L|SPTBN4_ENST00000338932.3_Silent_p.L1203L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1203					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTACCAGCTCTTCCTGCGGG	0.647													13	46					0	0	0	0	T	41026013	C	T	41026013	2	4	348	1	0	0	0	0	0	0	0	1	15211	900	32	2		2	SPTBN4	19	41026013	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1508465	41026013	18102970	279	66005											
SPTBN4	57731	broad.mit.edu	37	chr19	41063301	41063301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgacctgcagctcctcGtgtcccaggtggggcgccgg	5	7	15	14	3	0	1	0	1	0	0	3	1	2	1	4	4	3	3	4	4	0	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41063301G>A	ENST00000352632.3	+	26	5748	c.5662G>A	c.(5662-5664)Gtg>Atg	p.V1888M	SPTBN4_ENST00000598249.1_Missense_Mutation_p.V1888M|SPTBN4_ENST00000392025.1_Missense_Mutation_p.V631M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.V1888M|SPTBN4_ENST00000392023.1_Missense_Mutation_p.V564M|SPTBN4_ENST00000338932.3_Missense_Mutation_p.V1888M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1888					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGCTCCTCGTGTCCCAGGT	0.672													20	109					0	0	0	0	A	41063301	G	A	41063301	3	1	348	1	0	0	0	0	1	0	0	0	15211	1145	40	1	5760	1	SPTBN4	19	41063301	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	37288	41063301	18065682	280	66006											
SHKBP1	92799	broad.mit.edu	37	chr19	41096680	41096681	+	Frame_Shift_Del	DEL	TG	TG	-																															tgatggaacagctggaacacTgtgagctggccccgccggct																										TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41096680_41096681delTG	ENST00000291842.5	+	17	1862_1863	c.1813_1814delTG	c.(1813-1815)tfs	p.C605fs	SHKBP1_ENST00000600733.1_Frame_Shift_Del_p.C580fs	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	605						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGGAACACTGTGAGCTGGCC	0.668													83	147	---	---	---	---					-	41096681	TG	-	41096680	7	5	348	1	0	1	0	1	0	0	0	0	14372	1580	55	0	1879	0	SHKBP1	19	41096680	Frame_Shift_Del	DEL	TG	TCGA-CV-A6JM-01A-11D-A31L-08	33379	41096680	18032303	281	66007											
CYP2A6	1548	broad.mit.edu	37	chr19	41354558	41354558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcgatgaggaagcccgcctCctcctggatgcgctcctcga	6	8	12	15	4	0	1	0	1	0	0	5	5	3	3	5	2	2	1	5	2	1	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41354558C>T	ENST00000301141.5	-	3	474	c.454G>A	c.(454-456)Gag>Aag	p.E152K	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	152					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	AAGCCCGCCTCCTCCTGGATG	0.701													15	85					0	0	0	0	T	41354558	C	T	41354558	3	4	348	1	0	0	0	0	1	0	0	0	4194	864	30	2	1058	2	CYP2A6	19	41354558	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	257878	41354558	17774425	282	66008											
CYP2A7	1549	broad.mit.edu	37	chr19	41387515	41387515	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atagcctttgaagacccagtCgaaggtggcttgctcgcctc	8	10	11	12	2	0	2	0	1	0	1	3	3	0	2	3	2	2	2	3	2	3	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41387515C>G	ENST00000301146.4	-	2	863	c.322G>C	c.(322-324)Gac>Cac	p.D108H	CYP2A7_ENST00000291764.3_Intron|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	108				D -> E (in Ref. 2; AAB40520).		endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AAGACCCAGTCGAAGGTGGCT	0.642													12	114					0	0	0	0	G	41387515	C	G	41387515	3	3	348	1	0	0	0	0	1	0	0	0	4195	884	31	3	1194	3	CYP2A7	19	41387515	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	32957	41387515	17741468	283	66009											
AXL	558	broad.mit.edu	37	chr19	41743859	41743859	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcctcaggctgtgctgtCaaacgatgggatgggcatcc	7	10	12	12	1	3	0	2	0	1	0	5	2	4	1	2	3	2	3	2	3	1	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:41743859C>G	ENST00000301178.4	+	7	984	c.794C>G	c.(793-795)tCa>tGa	p.S265*	AXL_ENST00000593513.1_5'UTR|AXL_ENST00000359092.3_Nonsense_Mutation_p.S265*	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	265	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCTGTGCTGTCAAACGATGGG	0.627													18	56					0	0	0	0	G	41743859	C	G	41743859	4	3	348	1	0	0	0	0	0	1	0	0	1242	838	29	2	820	2	AXL	19	41743859	Nonsense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	356344	41743859	17385124	284	66010											
LIPE	3991	broad.mit.edu	37	chr19	42914791	42914791	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggtgtctctgggtccaggtCaaagaggtgcgccacaccca	8	7	13	13	2	2	1	1	0	1	1	4	1	3	1	3	4	1	0	3	4	1	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:42914791C>G	ENST00000244289.4	-	2	1363	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H	LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	363					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)				GGGTCCAGGTCAAAGAGGTGC	0.687													13	54					0	0	0	0	G	42914791	C	G	42914791	3	3	348	1	0	0	0	0	1	0	0	0	8876	826	29	2	2179	2	LIPE	19	42914791	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1170932	42914791	16214192	285	66011											
PSG8	440533	broad.mit.edu	37	chr19	43259296	43259296	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggactgaccgggaggctctGaccatttagccaccaaatgt	10	8	12	11	1	1	2	0	2	1	0	1	4	1	4	4	3	1	1	4	3	2	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:43259296G>C	ENST00000404209.4	-	4	928	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	PSG8_ENST00000406636.3_Missense_Mutation_p.Q156E|PSG8_ENST00000401467.2_Missense_Mutation_p.Q185E|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.Q278E	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	278	Ig-like C2-type 2.					extracellular region		p.Q278*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGAGGCTCTGACCATTTAGC	0.458													31	321					0	0	0	0	C	43259296	G	C	43259296	3	2	348	1	0	0	0	0	1	0	0	0	12740	1299	45	2	477	2	PSG8	19	43259296	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	344505	43259296	15869687	286	66012											
IGFL4	444882	broad.mit.edu	37	chr19	46543472	46543472	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcttcatgcctgggacCttgaacctcacaactgtctg	7	12	9	13	0	4	1	2	1	2	0	4	2	4	2	3	2	3	1	3	2	2	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:46543472C>T	ENST00000377697.1	-	3	326	c.273G>A	c.(271-273)aaG>aaA	p.K91K	IGFL4_ENST00000601672.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	91						extracellular region				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		TGCCTGGGACCTTGAACCTCA	0.597													28	108					0	0	0	0	T	46543472	C	T	46543472	2	4	348	1	0	0	0	0	0	0	0	1	7642	680	24	4		4	IGFL4	19	46543472	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	3284176	46543472	12585511	287	66013											
NUCB1	4924	broad.mit.edu	37	chr19	49422497	49422497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctggaggagttcctcgCatccactcagaggaaggagt	10	7	13	11	1	1	1	1	0	0	1	4	6	3	5	3	4	0	2	3	4	1	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:49422497C>T	ENST00000405315.4	+	10	1290	c.956C>T	c.(955-957)gCa>gTa	p.A319V	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.A319V|NUCB1_ENST00000263273.5_Missense_Mutation_p.A319V	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	319	Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GAGTTCCTCGCATCCACTCAG	0.627													16	47					0	0	0	0	T	49422497	C	T	49422497	3	4	348	1	0	0	0	0	1	0	0	0	10789	710	25	4	990	4	NUCB1	19	49422497	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	2879025	49422497	9706486	288	66014											
PTOV1	53635	broad.mit.edu	37	chr19	50360312	50360312	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactcgtccaagaagaagatCttcatgggcctcatccccta	11	10	7	13	1	3	3	2	0	1	3	6	3	5	3	4	1	1	0	4	1	5	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:50360312C>T	ENST00000391842.1	+	6	809	c.639C>T	c.(637-639)atC>atT	p.I213I	PTOV1_ENST00000601675.1_Silent_p.I213I|PTOV1_ENST00000601638.1_Silent_p.I181I|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000599732.1_Silent_p.I213I|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000221557.9_Silent_p.I181I|PTOV1_ENST00000600603.1_Silent_p.I181I	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	213	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AGAAGAAGATCTTCATGGGCC	0.647													34	269					0	0	0	0	T	50360312	C	T	50360312	2	4	348	1	0	0	0	0	0	0	0	1	12849	903	32	2		2	PTOV1	19	50360312	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	937815	50360312	8768671	289	66015											
PNKP	11284	broad.mit.edu	37	chr19	50368399	50368399	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaccttgccctggggtttCaccccagctgcggtgaacac	6	9	10	16	1	2	1	2	1	0	0	2	1	2	1	4	3	4	2	4	3	1	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:50368399C>T	ENST00000322344.3	-	4	592	c.483G>A	c.(481-483)gtG>gtA	p.V161V	PNKP_ENST00000600573.1_Silent_p.V161V|PNKP_ENST00000600910.1_Silent_p.V161V|PNKP_ENST00000596014.1_Silent_p.V161V	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	161					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCTGGGGTTTCACCCCAGCTG	0.582								Other BER factors					14	31					0	0	0	0	T	50368399	C	T	50368399	2	4	348	1	0	0	0	0	0	0	0	1	12219	813	29	2		2	PNKP	19	50368399	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	8087	50368399	8760584	290	66016											
KLK1	3816	broad.mit.edu	37	chr19	51325104	51325104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagcctcccacaatccGggactgaatcgggggcgcag	8	5	12	16	3	0	1	0	1	0	0	4	2	3	2	4	3	1	1	4	3	2	0	rs149251777		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:51325104G>A	ENST00000301420.2	-	2	105	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	24					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCACAATCCGGGACTGAATC	0.652													12	29					0	0	0	0	A	51325104	G	A	51325104	3	1	348	1	0	0	0	0	1	0	0	0	8449	1115	39	1	734	1	KLK1	19	51325104	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	956705	51325104	7803879	291	66017											
ZNF175	7728	broad.mit.edu	37	chr19	52090536	52090536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgtggaaaagccttcatgCcacaactaaaactcagtgta	16	9	7	9	0	2	0	2	0	0	0	2	1	2	1	2	1	4	1	2	1	7	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:52090536C>A	ENST00000262259.2	+	5	1310	c.952C>A	c.(952-954)Cca>Aca	p.P318T	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	318					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AGCCTTCATGCCACAACTAAA	0.433													6	89					5.9392e-07	6.21544e-07	1	0	A	52090536	C	A	52090536	3	1	348	1	0	0	0	0	1	0	0	0	17840	739	26	4	966	4	ZNF175	19	52090536	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	765432	52090536	7038447	292	66018											
ZNF582	147948	broad.mit.edu	37	chr19	56896032	56896032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttacattcatacggtttctCaccagtatgaactctctgat	10	16	5	10	1	3	2	2	2	2	0	5	2	3	2	1	1	3	2	1	1	4	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:56896032C>T	ENST00000301310.4	-	5	912	c.754G>A	c.(754-756)Gag>Aag	p.E252K	ZNF582_ENST00000586929.1_Missense_Mutation_p.E252K	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TACGGTTTCTCACCAGTATGA	0.393													5	23					0	0	0	0	T	56896032	C	T	56896032	3	4	348	1	0	0	0	0	1	0	0	0	18109	835	29	2	803	2	ZNF582	19	56896032	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	4805496	56896032	2232951	293	66019											
ZNF835	90485	broad.mit.edu	37	chr19	57176108	57176108	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcgtgcgctggtgcagggtCaggtgcacgctctggctgaa	5	9	17	10	3	2	1	1	1	1	0	2	1	2	1	0	4	4	5	0	4	1	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:57176108C>T	ENST00000537055.2	-	2	690	c.459G>A	c.(457-459)ctG>ctA	p.L153L		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTGCAGGGTCAGGTGCACGC	0.647													25	73					0	0	0	0	T	57176108	C	T	57176108	2	4	348	1	0	0	0	0	0	0	0	1	18279	813	29	2		2	ZNF835	19	57176108	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	280076	57176108	1952875	294	66020											
ZNF749	388567	broad.mit.edu	37	chr19	57955243	57955243	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actccaaccttattaaatatCagcaaaatcatgctggagaa	17	10	5	9	0	2	1	2	0	0	1	3	2	3	1	2	1	3	2	2	1	8	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:57955243C>T	ENST00000334181.4	+	3	977	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	243			Q -> R (in dbSNP:rs12986235).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		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;0.0264)|Lung(386;0.177)		TATTAAATATCAGCAAAATCA	0.413													18	100					0	0	0	0	T	57955243	C	T	57955243	4	4	348	1	0	0	0	0	0	1	0	0	18225	827	29	2	737	2	ZNF749	19	57955243	Nonsense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	779135	57955243	1173740	295	66021											
ZIK1	284307	broad.mit.edu	37	chr19	58101637	58101637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagggacatggacagagcctCatatgtgaagtgctgcctat	11	9	13	8	0	1	2	1	1	0	1	1	5	1	4	2	2	3	1	2	2	3	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:58101637C>T	ENST00000597850.1	+	4	673	c.458C>T	c.(457-459)tCa>tTa	p.S153L	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.S98L|ZIK1_ENST00000536878.2_Missense_Mutation_p.S140L	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACAGAGCCTCATATGTGAAG	0.493													13	82					0	0	0	0	T	58101637	C	T	58101637	3	4	348	1	0	0	0	0	1	0	0	0	17778	838	29	2	472	2	ZIK1	19	58101637	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	146394	58101637	1027346	296	66022											
ZNF8	7554	broad.mit.edu	37	chr19	58806859	58806859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattggggtggaagagccttCtgtgggtgcttccatgttat	6	15	14	6	0	1	1	0	0	1	1	2	2	2	2	2	4	2	2	2	4	3	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr19:58806859C>T	ENST00000196548.5	+	4	1816	c.1685C>T	c.(1684-1686)tCt>tTt	p.S562F	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GAAGAGCCTTCTGTGGGTGCT	0.443													18	90					0	0	0	0	T	58806859	C	T	58806859	3	4	348	1	0	0	0	0	1	0	0	0	18260	913	32	2	1699	2	ZNF8	19	58806859	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	705222	58806859	322124	297	66023											
SIRPB1	10326	broad.mit.edu	37	chr20	1592121	1592121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggggtgatgttactgatgcgGatggaaaagtccatgttgtt	9	13	15	4	1	0	2	0	2	0	0	1	4	1	4	1	4	2	3	1	4	3	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:1592121G>C	ENST00000279477.7	-	2	379	c.315C>G	c.(313-315)atC>atG	p.I105M	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.I105M|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	105	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TACTGATGCGGATGGAAAAGT	0.512													51	34					0	0	0	0	C	1592121	G	C	1592121	3	2	348	1	0	0	0	0	1	0	0	0	14421	1164	41	2	2034	2	SIRPB1	20	1592121	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08		1592121	61433399	298	66024											
RASSF2	9770	broad.mit.edu	37	chr20	4768915	4768915	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctctgctgaattctcaatCtgaagcaggagcaaaagatt	13	11	8	9	0	3	3	1	2	3	1	5	4	4	4	1	1	3	3	1	1	5	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:4768915C>G	ENST00000379400.3	-	9	835		c.e9-1		RASSF2_ENST00000478553.1_Splice_Site|RASSF2_ENST00000379376.2_Splice_Site	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2						cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AATTCTCAATCTGAAGCAGGA	0.378													13	49					0	0	0	0	G	4768915	C	G	4768915	5	3	348	1	0	0	0	0	0	0	1	0	13168	927	32	2	357	2	RASSF2	20	4768915	Splice_Site	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	3176794	4768915	58256605	299	66025											
FLRT3	23767	broad.mit.edu	37	chr20	14307765	14307765	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctaaatgtaattcttccaGatagggaatttttgaaagtg	14	15	8	4	0	2	2	0	1	2	1	3	3	3	3	1	1	0	1	1	1	6	7			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:14307765G>A	ENST00000378053.3	-	2	644	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	FLRT3_ENST00000341420.4_Silent_p.L130L|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	130					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AATTCTTCCAGATAGGGAATT	0.388													18	38					0	0	0	0	A	14307765	G	A	14307765	2	1	348	1	0	0	0	0	0	0	0	1	5985	933	33	2		2	FLRT3	20	14307765	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	9538850	14307765	48717755	300	66026											
EDEM2	55741	broad.mit.edu	37	chr20	33711712	33711712	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccgaagtgggtagccCtctcgcttctccactgtgta	5	11	11	14	2	2	0	0	0	2	0	4	1	2	0	4	2	1	3	4	2	3	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:33711712C>G	ENST00000540582.1	-	13	1693	c.972G>C	c.(970-972)gaG>gaC	p.E324D	EDEM2_ENST00000542871.1_Missense_Mutation_p.E89D|EDEM2_ENST00000541621.1_Missense_Mutation_p.E144D|EDEM2_ENST00000374491.2_Missense_Mutation_p.E328D|EDEM2_ENST00000374492.3_Missense_Mutation_p.E365D			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	365					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTGGGTAGCCCTCTCGCTTCT	0.542													13	47					0	0	0	0	G	33711712	C	G	33711712	3	3	348	1	0	0	0	0	1	0	0	0	4948	680	24	4	653	4	EDEM2	20	33711712	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	19403947	33711712	29313808	301	66027											
ERGIC3	51614	broad.mit.edu	37	chr20	34144782	34144782	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctgtgaccagacatgaGaaggttgccaatgggctgtt	9	12	12	8	0	1	3	0	2	1	2	2	4	1	3	2	2	1	3	2	2	2	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:34144782G>C	ENST00000348547.2	+	11	995	c.918G>C	c.(916-918)gaG>gaC	p.E306D	ERGIC3_ENST00000279052.6_Missense_Mutation_p.E311D|ERGIC3_ENST00000447986.1_Missense_Mutation_p.E321D|ERGIC3_ENST00000357394.4_Missense_Mutation_p.E311D	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	306					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding	p.E311E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CCAGACATGAGAAGGTTGCCA	0.597													16	24					0	0	0	0	C	34144782	G	C	34144782	3	2	348	1	0	0	0	0	1	0	0	0	5263	933	33	2	979	2	ERGIC3	20	34144782	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	433070	34144782	28880738	302	66028											
CHD6	84181	broad.mit.edu	37	chr20	40045370	40045370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggctcatactgctggctaGagggccacttcccctttaac	8	10	10	13	0	1	1	1	0	0	1	2	1	2	1	3	3	3	3	3	3	3	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:40045370G>A	ENST00000373233.3	-	33	6521	c.6344C>T	c.(6343-6345)tCt>tTt	p.S2115F		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2115					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGCTGGCTAGAGGGCCACTT	0.517													10	20					0	0	0	0	A	40045370	G	A	40045370	3	1	348	1	0	0	0	0	1	0	0	0	3358	942	33	2	1823	2	CHD6	20	40045370	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	5900588	40045370	22980150	303	66029											
SGK2	10110	broad.mit.edu	37	chr20	42208615	42208615	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgcacttcctgcagcttGagattaagaaccatgtattc	10	14	7	10	0	1	2	0	1	1	2	3	3	2	2	2	0	4	4	2	0	3	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:42208615G>C	ENST00000373100.1	+	13	1313	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	SGK2_ENST00000373077.1_Missense_Mutation_p.E284Q|SGK2_ENST00000341458.4_Missense_Mutation_p.E345Q|SGK2_ENST00000423407.3_Missense_Mutation_p.E285Q|SGK2_ENST00000426287.1_Missense_Mutation_p.E311Q|SGK2_ENST00000373092.3_Missense_Mutation_p.E285Q			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	345	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCTGCAGCTTGAGATTAAGAA	0.502													19	46					0	0	0	0	C	42208615	G	C	42208615	3	2	348	1	0	0	0	0	1	0	0	0	14296	1291	45	2	1075	2	SGK2	20	42208615	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2163245	42208615	20816905	304	66030											
WISP2	8839	broad.mit.edu	37	chr20	43355740	43355740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctaggaccccagttttCtggccttgtctcttccctgc	3	13	7	18	0	2	0	0	0	2	0	4	1	3	1	6	2	1	1	6	2	1	5			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:43355740C>A	ENST00000372868.2	+	5	888	c.545C>A	c.(544-546)tCt>tAt	p.S182Y	RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.L100M|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000190983.4_Missense_Mutation_p.S182Y			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	182					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCCCAGTTTTCTGGCCTTGTC	0.642													45	92					6.21074e-16	6.72554e-16	1	0	A	43355740	C	A	43355740	3	1	348	1	0	0	0	0	1	0	0	0	17469	913	32	2	559	2	WISP2	20	43355740	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1147125	43355740	19669780	305	66031											
NPEPL1	79716	broad.mit.edu	37	chr20	57269534	57269534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgccctggcccgggccttCccgctgttcacccaccgctc	2	9	10	20	3	1	0	1	0	0	0	3	0	2	0	6	2	1	3	6	2	0	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:57269534C>T	ENST00000356091.6	+	3	681	c.393C>T	c.(391-393)ttC>ttT	p.F131F	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Silent_p.F83F|NPEPL1_ENST00000525967.1_Silent_p.F103F	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	131					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CCCGGGCCTTCCCGCTGTTCA	0.657													40	88					0	0	0	0	T	57269534	C	T	57269534	2	4	348	1	0	0	0	0	0	0	0	1	10644	854	30	2		2	NPEPL1	20	57269534	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	13913794	57269534	5755986	306	66032											
SYCP2	10388	broad.mit.edu	37	chr20	58457211	58457211	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctgtagctttttttctGaactttttcctgaaaagagg	8	20	7	6	0	2	3	0	2	2	1	3	3	3	3	1	1	2	2	1	1	4	8			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:58457211G>A	ENST00000357552.3	-	27	2764	c.2539C>T	c.(2539-2541)Cag>Tag	p.Q847*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.Q847*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	847					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTTTTTTTCTGAACTTTTTcc	0.279													4	12					0	0	0	0	A	58457211	G	A	58457211	4	1	348	1	0	0	0	0	0	1	0	0	15523	1299	45	2	2129	2	SYCP2	20	58457211	Nonsense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	1187677	58457211	4568309	307	66033											
TAF4	6874	broad.mit.edu	37	chr20	60578314	60578314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggttccaggtaacacggcGggtttcaccacagggactac	9	9	12	11	2	1	0	1	0	0	0	2	1	2	1	2	5	2	3	2	5	2	5	rs147530592		TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr20:60578314G>A	ENST00000252996.3	-	9	2387	c.2388C>T	c.(2386-2388)ccC>ccT	p.P796P	TAF4_ENST00000488539.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	796					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTAACACGGCGGGTTTCACCA	0.493													25	49					0	0	0	0	A	60578314	G	A	60578314	2	1	348	1	0	0	0	0	0	0	0	1	15617	1103	39	1		1	TAF4	20	60578314	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	2121103	60578314	2447206	308	66034											
DOPEY2	9980	broad.mit.edu	37	chr21	37632996	37632996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatcgcccctagtggacattCctgtgttgcagttttgctat	7	15	9	10	1	0	0	0	0	0	0	2	1	1	1	3	1	2	4	3	1	3	6			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr21:37632996C>T	ENST00000399151.3	+	24	5366	c.5281C>T	c.(5281-5283)Cct>Tct	p.P1761S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1761					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGTGGACATTCCTGTGTTGCA	0.393													5	59					0	0	0	0	T	37632996	C	T	37632996	3	4	348	1	0	0	0	0	1	0	0	0	4744	855	30	2	5371	2	DOPEY2	21	37632996	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08		37632996	10496899	309	66035											
CECR2	27443	broad.mit.edu	37	chr22	18016846	18016846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcatggctgctggctcaagGaaaggagctccctccagaac	10	6	13	12	0	1	1	1	0	0	1	3	3	3	3	2	5	3	5	2	5	3	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:18016846G>A	ENST00000262608.8	+	9	1100	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	CECR2_ENST00000342247.5_Missense_Mutation_p.G338E|CECR2_ENST00000400585.2_Missense_Mutation_p.G225E|CECR2_ENST00000400573.4_Missense_Mutation_p.G366E	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	408					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTGGCTCAAGGAAAGGAGCTC	0.483													28	70					0	0	0	0	A	18016846	G	A	18016846	3	1	348	1	0	0	0	0	1	0	0	0	3235	1174	41	2	1133	2	CECR2	22	18016846	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08		18016846	33287720	310	66036											
GNAZ	2781	broad.mit.edu	37	chr22	23437907	23437907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatgtcggcaaagctcagagGaaaaagaagcagcccggcgg	14	3	15	9	3	1	2	1	0	0	2	2	4	1	3	1	4	3	3	1	4	4	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:23437907G>A	ENST00000248996.4	+	2	691	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	9						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AAGCTCAGAGGAAAAAGAAGC	0.642													22	49					0	0	0	0	A	23437907	G	A	23437907	3	1	348	1	0	0	0	0	1	0	0	0	6565	1175	41	2	27	2	GNAZ	22	23437907	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	5421061	23437907	27866659	311	66037											
CABIN1	23523	broad.mit.edu	37	chr22	24480736	24480736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattgagggaacttcaactGaggtgggcccacaaccttga	12	8	11	10	0	1	3	1	3	0	0	1	4	1	4	2	3	3	0	2	3	3	3			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:24480736G>A	ENST00000398319.2	+	21	3500	c.3115G>A	c.(3115-3117)Gag>Aag	p.E1039K	CABIN1_ENST00000263119.5_Missense_Mutation_p.E1039K|CABIN1_ENST00000405822.2_Missense_Mutation_p.E989K	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1039					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AACTTCAACTGAGGTGGGCCC	0.552													12	37					0	0	0	0	A	24480736	G	A	24480736	3	1	348	1	0	0	0	0	1	0	0	0	2553	1291	45	2	3193	2	CABIN1	22	24480736	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	1042829	24480736	26823830	312	66038											
MYO18B	84700	broad.mit.edu	37	chr22	26168328	26168328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctgagctggaccaggtcGaggacctggcctctctcatc	6	9	11	15	1	2	1	1	1	1	0	6	4	3	3	4	4	1	1	4	4	0	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:26168328G>A	ENST00000335473.7	+	7	1970	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	MYO18B_ENST00000407587.2_Missense_Mutation_p.E574K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E574K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	574	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACCAGGTCGAGGACCTGGC	0.622													61	204					0	0	0	0	A	26168328	G	A	26168328	3	1	348	1	0	0	0	0	1	0	0	0	10136	1059	37	1	1742	1	MYO18B	22	26168328	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	1687592	26168328	25136238	313	66039											
CRYBB1	1414	broad.mit.edu	37	chr22	26995538	26995538	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcgacgcagggactgcatCtgtggctggaaggctcccca	8	6	15	12	2	1	0	0	0	1	0	2	3	2	2	2	5	1	4	2	5	1	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:26995538C>T	ENST00000215939.2	-	6	805	c.675G>A	c.(673-675)caG>caA	p.Q225Q		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	225	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GGGACTGCATCTGTGGCTGGA	0.617													20	81					0	0	0	0	T	26995538	C	T	26995538	2	4	348	1	0	0	0	0	0	0	0	1	3940	912	32	2		2	CRYBB1	22	26995538	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	827210	26995538	24309028	314	66040											
GAS2L1	10634	broad.mit.edu	37	chr22	29708410	29708410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcggggcccccgccgcccctCcggacccgcagagctgggga	4	3	15	19	5	0	1	0	0	0	1	2	3	1	3	7	5	1	2	7	5	0	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:29708410C>G	ENST00000406549.3	+	6	1439	c.1289C>G	c.(1288-1290)tCc>tGc	p.S430C	GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	657					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CGCCGCCCCTCCGGACCCGCA	0.667													15	63					0	0	0	0	G	29708410	C	G	29708410	3	3	348	1	0	0	0	0	1	0	0	0	6295	855	30	2	1991	2	GAS2L1	22	29708410	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	2712872	29708410	21596156	315	66041											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951422	30951422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctcccagcacagcaggtCcttcagcagcaccagcgact	10	5	9	17	1	1	0	1	0	0	0	3	1	3	0	3	1	6	5	3	1	0	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:30951422C>A	ENST00000402321.1	-	3	1107	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.D264Y|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.D264Y			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	264					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CACAGCAGGTCCTTCAGCAGC	0.662													35	146					2.42023e-17	2.63493e-17	1	0	A	30951422	C	A	30951422	3	1	348	1	0	0	0	0	1	0	0	0	6246	855	30	2	485	2	GAL3ST1	22	30951422	Missense_Mutation	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	1243012	30951422	20353144	316	66042											
SMTN	6525	broad.mit.edu	37	chr22	31484061	31484061	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccctggcatccaagcgtttCcgtgccgagcggcaggacaa	8	6	13	14	4	0	0	0	0	0	0	2	2	2	1	4	3	3	3	4	3	2	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:31484061C>T	ENST00000333137.7	+	3	380	c.162C>T	c.(160-162)ttC>ttT	p.F54F	SMTN_ENST00000347557.2_Silent_p.F54F|SMTN_ENST00000358743.1_Silent_p.F54F|SMTN_ENST00000475548.1_3'UTR	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	54					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCAAGCGTTTCCGTGCCGAGC	0.652													10	47					0	0	0	0	T	31484061	C	T	31484061	2	4	348	1	0	0	0	0	0	0	0	1	14902	854	30	2		2	SMTN	22	31484061	Silent	SNP	C	TCGA-CV-A6JM-01A-11D-A31L-08	532639	31484061	19820505	317	66043											
POLR2F	5435	broad.mit.edu	37	chr22	38352802	38352802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatggcgacgactttgatGatgtggaggaggatgaaggg	10	10	18	3	2	0	4	0	4	0	0	0	9	0	7	0	5	0	0	0	5	1	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:38352802G>A	ENST00000442738.2	+	2	168	c.43G>A	c.(43-45)Gat>Aat	p.D15N	POLR2F_ENST00000407936.1_Missense_Mutation_p.D15N|POLR2F_ENST00000405557.1_Missense_Mutation_p.D15N|POLR2F_ENST00000460648.1_Missense_Mutation_p.D15N|POLR2F_ENST00000484894.1_3'UTR|POLR2F_ENST00000488684.1_Missense_Mutation_p.D15N|POLR2F_ENST00000606538.1_Missense_Mutation_p.D15N|POLR2F_ENST00000470701.1_Missense_Mutation_p.D10N	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	15					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					CGACTTTGATGATGTGGAGGA	0.502													11	60					0	0	0	0	A	38352802	G	A	38352802	3	1	348	1	0	0	0	0	1	0	0	0	12291	1290	45	2	49	2	POLR2F	22	38352802	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	6868741	38352802	12951764	318	66044											
PLXNB2	23654	broad.mit.edu	37	chr22	50717426	50717426	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccactccctcgtcctgcacGatcacgctcaccgtctgccg	5	9	7	20	5	3	0	2	0	1	0	7	1	6	0	5	0	2	2	5	0	0	0			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chr22:50717426G>A	ENST00000449103.1	-	28	4544	c.4404C>T	c.(4402-4404)atC>atT	p.I1468I	PLXNB2_ENST00000359337.4_Silent_p.I1468I			O15031	PLXB2_HUMAN	plexin B2	1468					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTCCTGCACGATCACGCTCA	0.617													21	36					0	0	0	0	A	50717426	G	A	50717426	2	1	348	1	0	0	0	0	0	0	0	1	12196	1048	37	1		1	PLXNB2	22	50717426	Silent	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08	12364624	50717426	587140	319	66045											
CITED1	4435	broad.mit.edu	37	chrX	71521739	71521739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctctgggcaccagcaGaaggagagagtgattctgcc	10	6	15	10	0	2	3	0	1	2	2	2	5	2	4	2	3	2	3	2	3	1	1			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chrX:71521739G>T	ENST00000246139.5	-	3	991	c.416C>A	c.(415-417)tCt>tAt	p.S139Y	CITED1_ENST00000431381.1_Missense_Mutation_p.S165Y|CITED1_ENST00000373619.3_Missense_Mutation_p.S139Y|CITED1_ENST00000445983.1_Missense_Mutation_p.S139Y	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1	139					apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			skin(1)	1	Renal(35;0.156)					GGCACCAGCAGAAGGAGAGAG	0.627													24	21					1.96895e-08	2.0875e-08	1	0	T	71521739	G	T	71521739	3	4	348	1	0	0	0	0	1	0	0	0	3469	942	33	2	169	2	CITED1	23	71521739	Missense_Mutation	SNP	G	TCGA-CV-A6JM-01A-11D-A31L-08		71521739	83748821	320	66046											
UTP14A	10813	broad.mit.edu	37	chrX	129045063	129045063	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggccactgtgaaaaagcaActgagtagagtcaaatcaaa	17	8	9	7	0	2	3	2	2	0	1	2	3	2	3	1	1	2	2	1	1	6	2			TCGA-CV-A6JM-01A-11D-A31L-08	TCGA-CV-A6JM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a8ba569-fd0e-4082-9584-45a4b35ce972	1d09c286-6455-421e-8043-261a6060cb8d	g.chrX:129045063A>G	ENST00000394422.3	+	5	346	c.318A>G	c.(316-318)caA>caG	p.Q106Q	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Silent_p.Q106Q|UTP14A_ENST00000371051.5_Silent_p.Q52Q	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	106					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGAAAAAGCAACTGAGTAGAG	0.423													46	30					0	0	0	0	G	129045063	A	G	129045063	2	3	348	1	0	0	0	0	0	0	0	1	17191	40	2	5		5	UTP14A	23	129045063	Silent	SNP	A	TCGA-CV-A6JM-01A-11D-A31L-08	57523324	129045063	26225497	321	66047											
RAP1GAP	5909	broad.mit.edu	37	chr1	21943975	21943975	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggggaagggtccttctcGccccaagacctgaagaggga	10	5	16	10	1	1	3	0	1	1	2	3	6	2	5	4	4	0	0	4	4	3	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:21943975G>A	ENST00000542643.2	-	8	417	c.115C>T	c.(115-117)Cga>Tga	p.R39*	RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374761.2_Nonsense_Mutation_p.R70*|RAP1GAP_ENST00000374765.4_Nonsense_Mutation_p.R39*|RAP1GAP_ENST00000290101.4_Nonsense_Mutation_p.R103*|RAP1GAP_ENST00000374763.2_Nonsense_Mutation_p.R39*	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	39					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGTCCTTCTCGCCCCAAGACC	0.627													7	11					0	0	0	0	A	21943975	G	A	21943975	4	1	349	1	0	0	0	0	0	1	0	0	13119	1095	38	1	2030	1	RAP1GAP	1	21943975	Nonsense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08		21943975	227306646	1	66048											
RHCE	6006	broad.mit.edu	37	chr1	25729191	25729191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccttccccaagacagcacCcgctgagatcagcaccgaca	12	4	8	17	2	1	2	1	1	0	2	2	5	2	2	5	0	2	3	5	0	1	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:25729191C>A	ENST00000349320.3	-	5	722	c.334G>T	c.(334-336)Ggt>Tgt	p.G112C	RHCE_ENST00000340849.4_Missense_Mutation_p.G128C|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000294413.7_Missense_Mutation_p.G128C|RHCE_ENST00000243186.6_Missense_Mutation_p.G128C|RHCE_ENST00000374352.2_Missense_Mutation_p.G112C|RHCE_ENST00000455194.1_Missense_Mutation_p.G128C|RHCE_ENST00000425135.1_Missense_Mutation_p.G128C|RHCE_ENST00000413854.1_Missense_Mutation_p.G128C|RHCE_ENST00000349438.4_Missense_Mutation_p.G128C|RHCE_ENST00000346452.4_Missense_Mutation_p.G128C			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	128						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AAGACAGCACCCGCTGAGATC	0.552													21	75					1.10923e-09	1.17029e-09	1	0	A	25729191	C	A	25729191	3	1	349	1	0	0	0	0	1	0	0	0	13408	623	22	4	903	4	RHCE	1	25729191	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	3785216	25729191	223521430	2	66049											
DMBX1	127343	broad.mit.edu	37	chr1	46976214	46976214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagccgcacagcgttcaCggctcagcagctcgaggccc	7	5	12	17	5	2	0	2	0	0	0	4	1	2	0	2	2	4	6	2	2	0	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:46976214C>T	ENST00000371956.4	+	2	251	c.236C>T	c.(235-237)aCg>aTg	p.T79M	DMBX1_ENST00000360032.3_Missense_Mutation_p.T74M	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	79	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACAGCGTTCACGGCTCAGCAG	0.577													10	41					0	0	0	0	T	46976214	C	T	46976214	3	4	349	1	0	0	0	0	1	0	0	0	4615	536	19	1	242	1	DMBX1	1	46976214	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	21247023	46976214	202274407	3	66050											
ITGA10	8515	broad.mit.edu	37	chr1	145533500	145533500	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacatcgaggaaaagtcatCgccttccagcttaagaaaga	16	7	9	9	2	1	3	1	0	0	3	4	5	2	4	2	1	1	1	2	1	4	2			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:145533500C>T	ENST00000369304.3	+	12	1558	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	ITGA10_ENST00000539363.1_Silent_p.I318I|ITGA10_ENST00000538811.1_Silent_p.I330I	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	461					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAAAAGTCATCGCCTTCCAGC	0.562													23	39					0	0	0	0	T	145533500	C	T	145533500	2	4	349	1	0	0	0	0	0	0	0	1	7926	874	31	1		1	ITGA10	1	145533500	Silent	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	98557286	145533500	103717121	4	66051											
ARHGAP30	257106	broad.mit.edu	37	chr1	161017688	161017688	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctaaggggccgaggagaatgGgcagagatcatgctacaagg	13	5	16	7	1	1	2	1	0	0	2	1	5	1	2	1	5	2	2	1	5	4	2			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:161017688G>A	ENST00000368013.3	-	12	3443	c.3123C>T	c.(3121-3123)gcC>gcT	p.A1041A	ARHGAP30_ENST00000368015.1_Silent_p.A864A|ARHGAP30_ENST00000368016.3_Silent_p.A830A	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	1041					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GAGGAGAATGGGCAGAGATCA	0.592													17	64					0	0	0	0	A	161017688	G	A	161017688	2	1	349	1	0	0	0	0	0	0	0	1	881	1219	43	4		4	ARHGAP30	1	161017688	Silent	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	15484188	161017688	88232933	5	66052											
KCNS3	3790	broad.mit.edu	37	chr2	18113195	18113195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctaaagcttgcccggcactCggtaggacttcggtctctag	7	11	11	12	3	2	0	0	0	2	0	5	1	2	1	1	4	2	3	1	4	4	5			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:18113195C>T	ENST00000403915.1	+	3	1371	c.920C>T	c.(919-921)tCg>tTg	p.S307L	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.S307L			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	307					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCCGGCACTCGGTAGGACTT	0.502													28	83					0	0	0	0	T	18113195	C	T	18113195	3	4	349	1	0	0	0	0	1	0	0	0	8143	893	31	1	922	1	KCNS3	2	18113195	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08		18113195	225086178	6	66053											
LTBP1	4052	broad.mit.edu	37	chr2	33586550	33586550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgtgcctgctggagaatCatcttctgaagctggtggtg	6	15	13	7	0	3	2	1	1	2	1	3	3	3	2	1	3	3	2	1	3	2	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:33586550C>T	ENST00000404816.2	+	28	4591	c.4238C>T	c.(4237-4239)tCa>tTa	p.S1413L	LTBP1_ENST00000390003.4_Missense_Mutation_p.S1088L|LTBP1_ENST00000354476.3_Missense_Mutation_p.S1414L|LTBP1_ENST00000272273.5_Missense_Mutation_p.S311L|LTBP1_ENST00000404525.1_Missense_Mutation_p.S1034L|LTBP1_ENST00000402934.1_Missense_Mutation_p.S1032L|LTBP1_ENST00000418533.2_Missense_Mutation_p.S1045L|LTBP1_ENST00000407925.1_Missense_Mutation_p.S1087L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1413					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCTGGAGAATCATCTTCTGAA	0.373													5	61					0	0	0	0	T	33586550	C	T	33586550	3	4	349	1	0	0	0	0	1	0	0	0	9137	838	29	2	4403	2	LTBP1	2	33586550	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	15473355	33586550	209612823	7	66054											
EPAS1	2034	broad.mit.edu	37	chr2	46587863	46587863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacggtcaccaacagaggcCgtactgtcaacctcaagtca	12	6	9	14	2	4	1	4	0	0	1	4	1	4	1	3	2	3	2	3	2	4	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:46587863C>T	ENST00000263734.3	+	5	1051	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	181					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CAACAGAGGCCGTACTGTCAA	0.552													23	36					0	0	0	0	T	46587863	C	T	46587863	3	4	349	1	0	0	0	0	1	0	0	0	5188	652	23	1	559	1	EPAS1	2	46587863	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	13001313	46587863	196611510	8	66055											
EIF2AK3	9451	broad.mit.edu	37	chr2	88890056	88890056	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgtataacttgtatcaTcaaaaagactgatgggaatg	16	12	9	4	0	2	3	2	1	0	2	2	4	2	4	0	1	1	2	0	1	7	5			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:88890056T>C	ENST00000303236.3	-	6	1371	c.1070A>G	c.(1069-1071)gAt>gGt	p.D357G	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D206G	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	357					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ACTTGTATCATCAAAAAGACT	0.358													7	39					0	0	0	0	C	88890056	T	C	88890056	3	2	349	1	0	0	0	0	1	0	0	0	5034	1435	50	5	2328	5	EIF2AK3	2	88890056	Missense_Mutation	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08	42302193	88890056	154309317	9	66056											
GPR45	11250	broad.mit.edu	37	chr2	105858933	105858933	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggccgtgttcttcgcGccctttggcgtcatgctgtg	1	14	15	11	4	2	0	1	0	1	0	3	0	2	0	2	3	1	2	2	3	0	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:105858933G>A	ENST00000258456.1	+	1	734	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	206						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGTTCTTCGCGCCCTTTGGCG	0.677													12	20					0	0	0	0	A	105858933	G	A	105858933	2	1	349	1	0	0	0	0	0	0	0	1	6745	1074	38	1		1	GPR45	2	105858933	Silent	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	16968877	105858933	137340440	10	66057											
NBEAL1	65065	broad.mit.edu	37	chr2	204000972	204000972	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctctttacttgaaagccaAgaggtaaaattgcttatttt	12	17	6	6	0	1	2	0	1	1	1	2	2	1	2	1	1	3	2	1	1	6	9			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:204000972A>G	ENST00000449802.1	+	27	4632	c.4299A>G	c.(4297-4299)caA>caG	p.Q1433Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1433							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTGAAAGCCAAGAGGTAAAAT	0.328													6	29					0	0	0	0	G	204000972	A	G	204000972	2	3	349	1	0	0	0	0	0	0	0	1	10258	69	3	5		5	NBEAL1	2	204000972	Silent	SNP	A	TCGA-CV-A6JN-01A-11D-A31L-08	98142039	204000972	39198401	11	66058											
ATIC	471	broad.mit.edu	37	chr2	216177193	216177193	+	Translation_Start_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgcaatgtgctgcgaaTcatgagaaaaaatgtcttct	14	11	9	7	1	3	1	1	1	2	1	3	3	3	1	0	0	3	2	0	0	5	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:216177193T>G	ENST00000435675.1	+	0	380				ATIC_ENST00000236959.9_Intron|ATIC_ENST00000540518.1_Intron			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase						IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GTGCTGCGAATCATGAGAAAA	0.507			T	ALK	ALCL								22	73					0	0	0	0	G	216177193	T	G	216177193	1	3	349	1	0	0	0	0	0	0	0	0	1109	1450	50	5		5	ATIC	2	216177193	Translation_Start_Site	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08	12176221	216177193	27022180	12	66059											
SP110	3431	broad.mit.edu	37	chr2	231042314	231042314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccgtttccagttctttgcGttccttccttttccttcgac	2	20	5	14	3	1	0	0	0	1	0	7	1	6	0	5	0	1	3	5	0	0	9			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:231042314G>A	ENST00000258381.6	-	14	1607	c.1530C>T	c.(1528-1530)aaC>aaT	p.N510N	SP110_ENST00000258382.5_Silent_p.N510N|SP110_ENST00000358662.4_Silent_p.N510N|SP110_ENST00000540870.1_Silent_p.N516N|SP110_ENST00000338556.3_Silent_p.N212N|SP110_ENST00000392048.3_Silent_p.N508N	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	510	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGTTCTTTGCGTTCCTTCCTT	0.423													65	217					0	0	0	0	A	231042314	G	A	231042314	2	1	349	1	0	0	0	0	0	0	0	1	15049	1136	40	1		1	SP110	2	231042314	Silent	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	14865121	231042314	12157059	13	66060											
C2orf57	165100	broad.mit.edu	37	chr2	232458648	232458648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcggggcccagcttgcGctcggtccccagcctggtgg	3	7	15	16	3	0	0	0	0	0	0	3	0	1	0	4	5	4	3	4	5	0	1	rs140125501		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:232458648G>A	ENST00000313965.2	+	1	1074	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	329										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CCCAGCTTGCGCTCGGTCCCC	0.667													19	86					0	0	0	0	A	232458648	G	A	232458648	3	1	349	1	0	0	0	0	1	0	0	0	2198	1087	38	1	988	1	C2orf57	2	232458648	Missense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	1416334	232458648	10740725	14	66061											
NGEF	25791	broad.mit.edu	37	chr2	233839353	233839353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaggcagctggcgttcCgttcggggttgtctctggcc	2	11	15	13	3	1	0	0	0	1	0	4	0	2	0	3	5	2	5	3	5	0	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:233839353C>T	ENST00000264051.3	-	2	526	c.248G>A	c.(247-249)cGg>cAg	p.R83Q		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	83	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GCTGGCGTTCCGTTCGGGGTT	0.502													64	166					0	0	0	0	T	233839353	C	T	233839353	3	4	349	1	0	0	0	0	1	0	0	0	10464	652	23	1	2051	1	NGEF	2	233839353	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	1380705	233839353	9360020	15	66062											
C2orf54	79919	broad.mit.edu	37	chr2	241835040	241835040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagtgaaggtatcctcGgtggtccaccgctccaggcc	7	7	14	13	2	0	1	0	1	0	0	4	2	3	1	5	5	0	3	5	5	2	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:241835040G>A	ENST00000388934.4	-	1	533	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_001085437.1	NP_001078906.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	125										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGGTATCCTCGGTGGTCCACC	0.617													7	27					0	0	0	0	A	241835040	G	A	241835040	2	1	349	1	0	0	0	0	0	0	0	1	2195	1103	39	1		1	C2orf54	2	241835040	Silent	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	7995687	241835040	1364333	16	66063											
QARS	5859	broad.mit.edu	37	chr3	49138814	49138814	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagccaaagttgaaattgaTggctttggcatgtccaatat	13	13	9	6	0	0	2	0	2	0	0	1	2	1	2	2	2	1	3	2	2	5	5			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:49138814T>C	ENST00000306125.6	-	10	1187	c.850A>G	c.(850-852)Atc>Gtc	p.I284V	QARS_ENST00000470225.1_5'UTR|QARS_ENST00000414533.1_Missense_Mutation_p.I273V|QARS_ENST00000420147.2_Missense_Mutation_p.H273R			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	284					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TTGAAATTGATGGCTTTGGCA	0.478													17	34					0	0	0	0	C	49138814	T	C	49138814	3	2	349	1	0	0	0	0	1	0	0	0	12953	1464	51	5	1537	5	QARS	3	49138814	Missense_Mutation	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08		49138814	148883616	17	66064											
RNF123	63891	broad.mit.edu	37	chr3	49736208	49736208	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgtgggcagcgggggacatCgtgagctgcctgattgacct	6	8	17	10	3	0	3	0	3	0	0	1	4	0	4	2	3	3	2	2	3	0	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:49736208C>T	ENST00000327697.6	+	9	735	c.591C>T	c.(589-591)atC>atT	p.I197I	RNF123_ENST00000432042.1_Silent_p.I51I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	197	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CGGGGGACATCGTGAGCTGCC	0.612													15	27					0	0	0	0	T	49736208	C	T	49736208	2	4	349	1	0	0	0	0	0	0	0	1	13518	874	31	1		1	RNF123	3	49736208	Silent	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	597394	49736208	148286222	18	66065											
ZBTB20	26137	broad.mit.edu	37	chr3	114069466	114069466	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggtcagaggcatcctcaGgttgctggtgagggtttctg	7	11	15	8	0	3	2	2	1	1	1	4	2	4	2	1	5	1	4	1	5	1	2			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:114069466G>C	ENST00000462705.1	-	11	2061	c.1240C>G	c.(1240-1242)Ctg>Gtg	p.L414V	ZBTB20_ENST00000471418.1_Missense_Mutation_p.L414V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.L414V|ZBTB20_ENST00000357258.3_Missense_Mutation_p.L414V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.L414V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.L487V|ZBTB20_ENST00000481632.1_Missense_Mutation_p.L414V	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGCATCCTCAGGTTGCTGGTG	0.592													23	65					0	0	0	0	C	114069466	G	C	114069466	3	2	349	1	0	0	0	0	1	0	0	0	17624	991	35	4	774	4	ZBTB20	3	114069466	Missense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	64333258	114069466	83952964	19	66066											
MYLK	4638	broad.mit.edu	37	chr3	123383035	123383035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccgcagtgctcctggCgcgcggccaggatggtgagc	6	5	17	13	4	0	1	0	1	0	0	1	2	1	2	3	4	4	3	3	4	0	0			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:123383035C>T	ENST00000360772.3	-	24	4280	c.3902G>A	c.(3901-3903)cGc>cAc	p.R1301H	MYLK_ENST00000475616.1_Missense_Mutation_p.R1301H|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232H|MYLK_ENST00000354792.5_Missense_Mutation_p.R101H|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301H|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301H			Q15746	MYLK_HUMAN	myosin light chain kinase	1301	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTGCTCCTGGCGCGCGGCCAG	0.627													63	151					0	0	0	0	T	123383035	C	T	123383035	3	4	349	1	0	0	0	0	1	0	0	0	10126	768	27	1	1890	1	MYLK	3	123383035	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	9313569	123383035	74639395	20	66067											
KIAA1257	57501	broad.mit.edu	37	chr3	128706656	128706656	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctttgtcaccttcgTgccacggcttcacagtctgt	5	12	9	15	2	3	0	2	0	1	0	4	0	3	0	3	2	1	2	3	2	0	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:128706656T>C	ENST00000265068.5	-	4	637	c.470A>G	c.(469-471)cAc>cGc	p.H157R	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.H45R|KIAA1257_ENST00000511438.1_Missense_Mutation_p.H157R	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	157										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GTCACCTTCGTGCCACGGCTT	0.468													5	11					0	0	0	0	C	128706656	T	C	128706656	3	2	349	1	0	0	0	0	1	0	0	0	8269	1696	59	5	779	5	KIAA1257	3	128706656	Missense_Mutation	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08	5323621	128706656	69315774	21	66068											
H1FX	8971	broad.mit.edu	37	chr3	129034308	129034308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccgcgcccggggctgcCttcttcgctttgtgcgcggt	0	10	15	16	7	1	0	0	0	1	0	2	0	1	0	4	4	2	2	4	4	0	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:129034308C>G	ENST00000333762.4	-	1	812	c.438G>C	c.(436-438)aaG>aaC	p.K146N	H1FX-AS1_ENST00000511998.1_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	146					nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)|ovary(1)|urinary_tract(2)	4						ccggggcTGCCTTCTTCGCTT	0.761													3	5					0	0	0	0	G	129034308	C	G	129034308	3	3	349	1	0	0	0	0	1	0	0	0	6973	680	24	4	207	4	H1FX	3	129034308	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	327652	129034308	68988122	22	66069											
EIF4G1	1981	broad.mit.edu	37	chr3	184039336	184039336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaacccactcctctcgccGaacccatactggaagtagaa	13	6	7	15	2	1	2	0	0	1	2	3	4	2	3	4	1	3	1	4	1	6	2			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:184039336G>A	ENST00000342981.4	+	9	1378	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E235K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E235K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E322K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E158K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E282K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E329K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E329K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E126K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E329K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E282K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E126K|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E322K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E158K	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	322					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCTCTCGCCGAACCCATACT	0.507													24	46					0	0	0	0	A	184039336	G	A	184039336	3	1	349	1	0	0	0	0	1	0	0	0	5074	1059	37	1	994	1	EIF4G1	3	184039336	Missense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	55005028	184039336	13983094	23	66070											
CPZ	8532	broad.mit.edu	37	chr4	8607830	8607830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacctgcttggtaacccccGcatccagcgcctgctcaaca	8	8	8	17	2	1	0	1	0	0	0	2	0	2	0	5	1	6	5	5	1	3	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:8607830G>A	ENST00000382480.2	+	5	1213	c.413G>A	c.(412-414)cGc>cAc	p.R138H	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000360986.4_Missense_Mutation_p.R275H|CPZ_ENST00000315782.6_Missense_Mutation_p.R264H	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	275	FZ.				proteolysis|Wnt receptor signaling pathway	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						GGTAACCCCCGCATCCAGCGC	0.617													10	48					0	0	0	0	A	8607830	G	A	8607830	3	1	349	1	0	0	0	0	1	0	0	0	3869	1087	38	1	842	1	CPZ	4	8607830	Missense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08		8607830	182546446	24	66071											
PDS5A	23244	broad.mit.edu	37	chr4	39878721	39878721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcttaggcactgtaacaagGactcatatgtctctgcagag	11	12	9	9	0	3	1	1	0	2	1	4	2	3	2	0	2	2	3	0	2	4	4			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:39878721G>T	ENST00000303538.8	-	19	2584	c.2045C>A	c.(2044-2046)tCc>tAc	p.S682Y		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	682					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTGTAACAAGGACTCATATGT	0.398													27	117					2.24059e-21	2.50163e-21	1	0	T	39878721	G	T	39878721	3	4	349	1	0	0	0	0	1	0	0	0	11762	1174	41	2	2028	2	PDS5A	4	39878721	Missense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	31270891	39878721	151275555	25	66072											
CEP135	9662	broad.mit.edu	37	chr4	56820470	56820470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcataaactcaaactgttGgagaaagagagcaaagctaa	18	7	9	7	0	2	2	2	0	0	2	2	4	2	2	0	1	4	4	0	1	6	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:56820470G>T	ENST00000257287.4	+	4	517	c.393G>T	c.(391-393)ttG>ttT	p.L131F	CEP135_ENST00000422247.2_Missense_Mutation_p.L131F	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	131					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCAAACTGTTGGAGAAAGAGA	0.343													3	38					1	1	1	0	T	56820470	G	T	56820470	3	4	349	1	0	0	0	0	1	0	0	0	3276	1339	47	4	403	4	CEP135	4	56820470	Missense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	16941749	56820470	134333806	26	66073											
SHROOM3	57619	broad.mit.edu	37	chr4	77662469	77662469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgcagagaaatgggatgcGtttcccggagagcagcgtgg	9	6	16	10	4	0	2	0	0	0	2	1	5	1	3	2	3	3	3	2	3	1	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:77662469G>A	ENST00000296043.6	+	5	4096	c.3143G>A	c.(3142-3144)cGt>cAt	p.R1048H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1048					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AATGGGATGCGTTTCCCGGAG	0.667													5	28					0	0	0	0	A	77662469	G	A	77662469	3	1	349	1	0	0	0	0	1	0	0	0	14383	1145	40	1	3161	1	SHROOM3	4	77662469	Missense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	20841999	77662469	113491807	27	66074											
HELQ	113510	broad.mit.edu	37	chr4	84362496	84362496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaaagtcatgccattctCagctttgctgtcaacttcat	11	14	6	10	0	4	1	4	1	1	0	5	1	4	1	1	0	4	2	1	0	3	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:84362496C>T	ENST00000295488.3	-	7	1786	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	HELQ_ENST00000510985.1_Missense_Mutation_p.E475K	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	542							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATGCCATTCTCAGCTTTGCTG	0.313								Other identified genes with known or suspected DNA repair function					4	21					0	0	0	0	T	84362496	C	T	84362496	3	4	349	1	0	0	0	0	1	0	0	0	7097	835	29	2	1729	2	HELQ	4	84362496	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	6700027	84362496	106791780	28	66075											
C4orf21	55345	broad.mit.edu	37	chr4	113524756	113524756	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttcatactcagtgctaTctggaaactgactgcatcct	10	14	7	10	0	3	1	2	1	1	0	4	2	4	2	1	1	4	3	1	1	3	4			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:113524756T>C	ENST00000505019.1	-	10	3025	c.2900A>G	c.(2899-2901)gAt>gGt	p.D967G	C4orf21_ENST00000309071.5_Missense_Mutation_p.D967G	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	967										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTCAGTGCTATCTGGAAACTG	0.408													19	46					0	0	0	0	C	113524756	T	C	113524756	3	2	349	1	0	0	0	0	1	0	0	0	2275	1435	50	5	3490	5	C4orf21	4	113524756	Missense_Mutation	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08	29162260	113524756	77629520	29	66076											
PKD2L2	27039	broad.mit.edu	37	chr5	137271550	137271550	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaaagtattattctaTggaaattcaagatgactacc	17	12	7	5	0	2	3	1	2	1	2	2	5	2	4	1	1	1	1	1	1	8	6			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr5:137271550T>A	ENST00000508638.1	+	11	1488	c.1433T>A	c.(1432-1434)aTg>aAg	p.M478K	PKD2L2_ENST00000508883.1_Missense_Mutation_p.M579K|PKD2L2_ENST00000502810.1_Missense_Mutation_p.M557K|PKD2L2_ENST00000350250.4_Missense_Mutation_p.M545K|PKD2L2_ENST00000290431.5_Missense_Mutation_p.M579K	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	579						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATTATTCTATGGAAATTCAA	0.388													13	77					0	0	0	0	A	137271550	T	A	137271550	3	1	349	1	0	0	0	0	1	0	0	0	12040	1464	51	5	1786	5	PKD2L2	5	137271550	Missense_Mutation	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08		137271550	43643710	30	66077											
C1QTNF2	114898	broad.mit.edu	37	chr5	159776736	159776736	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccgcccaatggccccGgctttgccctttggtcctgg	3	9	11	18	2	0	0	0	0	0	0	1	0	1	0	7	4	2	1	7	4	1	2			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr5:159776736G>A	ENST00000393975.3	-	3	435	c.432C>T	c.(430-432)gcC>gcT	p.A144A		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	99						collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAATGGCCCCGGCTTTGCCCT	0.657													19	57					0	0	0	0	A	159776736	G	A	159776736	2	1	349	1	0	0	0	0	0	0	0	1	1982	1103	39	1		1	C1QTNF2	5	159776736	Silent	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	22505186	159776736	21138524	31	66078											
RANBP17	64901	broad.mit.edu	37	chr5	170725847	170725847	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacactgaaccatgcagtctCgacatgatgagctgacccga	13	7	9	12	2	1	4	0	4	1	0	2	6	1	4	2	0	4	2	2	0	2	0			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr5:170725847C>T	ENST00000523189.1	+	28	3416	c.3252C>T	c.(3250-3252)ctC>ctT	p.L1084L	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1084					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATGCAGTCTCGACATGATGA	0.507			T	TRD@	ALL								13	23					0	0	0	0	T	170725847	C	T	170725847	2	4	349	1	0	0	0	0	0	0	0	1	13109	871	31	1		1	RANBP17	5	170725847	Silent	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	10949111	170725847	10189413	32	66079											
HLA-E	3133	broad.mit.edu	37	chr6	30457340	30457340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccctccttttactcctctCggaggccctggcccttaccc	5	11	6	19	1	1	0	0	0	1	0	4	1	3	1	6	3	3	0	6	3	3	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:30457340C>T	ENST00000376630.4	+	1	97	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	11					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						TTACTCCTCTCGGAGGCCCTG	0.637													61	57					0	0	0	0	T	30457340	C	T	30457340	3	4	349	1	0	0	0	0	1	0	0	0	7260	893	31	1	34	1	HLA-E	6	30457340	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08		30457340	140657727	33	66080											
DHX16	8449	broad.mit.edu	37	chr6	30622519	30622519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggtcaagacaagttcGtggtagagcagccagcgtgg	9	9	16	7	2	1	2	1	0	0	2	2	2	1	2	1	4	3	3	1	4	3	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:30622519G>A	ENST00000376442.3	-	19	3156	c.2961C>T	c.(2959-2961)caC>caT	p.H987H	DHX16_ENST00000376437.5_Silent_p.H506H	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	987					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						AGACAAGTTCGTGGTAGAGCA	0.537													40	56					0	0	0	0	A	30622519	G	A	30622519	2	1	349	1	0	0	0	0	0	0	0	1	4539	1136	40	1		1	DHX16	6	30622519	Silent	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	165179	30622519	140492548	34	66081											
TAPBP	6892	broad.mit.edu	37	chr6	33272960	33272960	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggctgctggcatctggccaTtcagcccaggagttgcagcc	6	8	14	13	0	2	0	1	0	1	0	2	1	2	1	3	4	4	5	3	4	0	2			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:33272960T>C	ENST00000434618.2	-	4	1019	c.674A>G	c.(673-675)aAt>aGt	p.N225S	TAPBP_ENST00000489157.1_Missense_Mutation_p.N138S|TAPBP_ENST00000426633.2_Missense_Mutation_p.N225S|TAPBP_ENST00000475304.1_Missense_Mutation_p.N243S|TAPBP_ENST00000456592.2_Missense_Mutation_p.N225S	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	225					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CATCTGGCCATTCAGCCCAGG	0.627													22	70					0	0	0	0	C	33272960	T	C	33272960	3	2	349	1	0	0	0	0	1	0	0	0	15643	1493	52	5	872	5	TAPBP	6	33272960	Missense_Mutation	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08	2650441	33272960	137842107	35	66082											
AMD1	262	broad.mit.edu	37	chr6	111214770	111214770	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctatgttcaatgattacaAttttgtttttaccagttttg	9	21	6	5	0	1	1	1	1	0	0	1	1	1	1	1	0	3	4	1	0	5	10			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:111214770A>G	ENST00000368885.3	+	9	1292	c.956A>G	c.(955-957)aAt>aGt	p.N319S	AMD1_ENST00000451850.2_Missense_Mutation_p.N199S|AMD1_ENST00000368882.3_Missense_Mutation_p.N171S|AMD1_ENST00000368877.5_Missense_Mutation_p.N290S|AMD1_ENST00000368876.1_Missense_Mutation_p.N250S	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	319					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	AATGATTACAATTTTGTTTTT	0.393													19	62					0	0	0	0	G	111214770	A	G	111214770	3	3	349	1	0	0	0	0	1	0	0	0	566	101	4	5	990	5	AMD1	6	111214770	Missense_Mutation	SNP	A	TCGA-CV-A6JN-01A-11D-A31L-08	77941810	111214770	59900297	36	66083											
KIAA0408	9729	broad.mit.edu	37	chr6	127767859	127767859	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtcatgctcgtggagcatAtttcgataactgcgaggact	10	11	11	9	3	1	0	1	0	0	0	3	4	1	2	0	2	4	2	0	2	2	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:127767859A>G	ENST00000483725.3	-	5	1941	c.1605T>C	c.(1603-1605)aaT>aaC	p.N535N	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	535							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CGTGGAGCATATTTCGATAAC	0.483													19	19					0	0	0	0	G	127767859	A	G	127767859	2	3	349	1	0	0	0	0	0	0	0	1	8225	446	16	5		5	KIAA0408	6	127767859	Silent	SNP	A	TCGA-CV-A6JN-01A-11D-A31L-08	16553089	127767859	43347208	37	66084											
ZDHHC14	79683	broad.mit.edu	37	chr6	158093959	158093959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccgaggccacgctcgcGgacgtgatgccccggaaaga	8	4	14	15	7	0	2	0	1	0	1	2	5	0	4	4	3	1	1	4	3	1	0			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:158093959G>A	ENST00000359775.5	+	9	2161	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A	ZDHHC14_ENST00000414563.2_Silent_p.A409A|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	424						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCACGCTCGCGGACGTGATGC	0.741													6	5					0	0	0	0	A	158093959	G	A	158093959	2	1	349	1	0	0	0	0	0	0	0	1	17699	1103	39	1		1	ZDHHC14	6	158093959	Silent	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	30326100	158093959	13021108	38	66085											
THSD7A	221981	broad.mit.edu	37	chr7	11630167	11630167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acacctctcgggtctggatgCcccctccacagagggccgtc	6	7	11	17	2	2	1	0	0	2	1	5	2	3	2	5	3	1	0	5	3	0	0			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:11630167C>T	ENST00000423059.3	-	4	1624	c.1373G>A	c.(1372-1374)gGc>gAc	p.G458D		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	458	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGTCTGGATGCCCCCTCCACA	0.547										HNSCC(18;0.044)			15	36					0	0	0	0	T	11630167	C	T	11630167	3	4	349	1	0	0	0	0	1	0	0	0	15973	739	26	4	3696	4	THSD7A	7	11630167	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08		11630167	147508496	39	66086											
RHBDD2	57414	broad.mit.edu	37	chr7	75517488	75517488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctccggcctgtgctatGtgcagaaccactttggtcca	6	11	10	14	1	0	1	0	0	0	1	2	1	2	1	5	2	4	2	5	2	2	2			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:75517488G>T	ENST00000318622.4	+	5	1122	c.493G>T	c.(493-495)Gtg>Ttg	p.V165L	RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000428119.1_Missense_Mutation_p.V165L|RHBDD2_ENST00000006777.6_Missense_Mutation_p.V306L	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	306						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CCTGTGCTATGTGCAGAACCA	0.667													56	188					1.61742e-36	1.82356e-36	1	0	T	75517488	G	T	75517488	3	4	349	1	0	0	0	0	1	0	0	0	13400	1377	48	4	930	4	RHBDD2	7	75517488	Missense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	63887321	75517488	83621175	40	66087											
PPP1R9A	55607	broad.mit.edu	37	chr7	94915636	94915636	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagcactgtcatcagatgAggtaattccatggcactatg	11	12	9	9	0	2	2	2	1	0	1	3	2	3	2	1	2	1	3	1	2	3	4			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:94915636A>G	ENST00000289495.5	+	16	3710	c.3495_splice	c.e16+1	p.E1165_splice	PPP1R9A_ENST00000456331.2_Splice_Site_p.E1183_splice|PPP1R9A_ENST00000424654.1_Splice_Site_p.E1183_splice|PPP1R9A_ENST00000340694.4_Splice_Site_p.E959_splice|PPP1R9A_ENST00000433360.1_Splice_Site_p.E1243_splice|PPP1R9A_ENST00000433881.1_Splice_Site_p.E959_splice	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	959						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCATCAGATGAGGTAATTCCA	0.463										HNSCC(28;0.073)			10	46					0	0	0	0	G	94915636	A	G	94915636	5	3	349	1	0	0	0	0	0	0	1	0	12454	318	11	5	3794	5	PPP1R9A	7	94915636	Splice_Site	SNP	A	TCGA-CV-A6JN-01A-11D-A31L-08	19398148	94915636	64223027	41	66088											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99117515	99117515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagctgacagcttcacttCtctcaactgggtcccaggtg	8	10	11	12	0	3	1	2	1	1	0	5	2	4	2	1	3	3	2	1	3	1	2			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:99117515C>T	ENST00000394170.2	+	4	870	c.619C>T	c.(619-621)Ctc>Ttc	p.L207F	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.L207F|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.L207F	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	207					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGCTTCACTTCTCTCAACTGG	0.527													11	48					0	0	0	0	T	99117515	C	T	99117515	3	4	349	1	0	0	0	0	1	0	0	0	17785	913	32	2	629	2	ZKSCAN5	7	99117515	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	4201879	99117515	60021148	42	66089											
RINT1	60561	broad.mit.edu	37	chr7	105195584	105195584	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacaagtgatgaaagaagaGactagagcttcccttggctt	14	9	10	8	0	0	5	0	2	0	3	1	6	1	5	1	1	1	2	1	1	4	4			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:105195584G>C	ENST00000257700.2	+	11	1812	c.1581G>C	c.(1579-1581)gaG>gaC	p.E527D		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	527	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGAAAGAAGAGACTAGAGCTT	0.403													29	96					0	0	0	0	C	105195584	G	C	105195584	3	2	349	1	0	0	0	0	1	0	0	0	13461	933	33	2	1623	2	RINT1	7	105195584	Missense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	6078069	105195584	53943079	43	66090											
ZNF277	11179	broad.mit.edu	37	chr7	111927000	111927000	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccaccactttagaaggttCtccatctgtgccttgtattt	8	15	6	12	0	2	1	0	0	2	1	3	1	2	1	4	1	1	2	4	1	3	6			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:111927000C>G	ENST00000421043.1	+	2	184	c.164C>G	c.(163-165)tCt>tGt	p.S55C	ZNF277_ENST00000361822.3_Missense_Mutation_p.S55C|ZNF277_ENST00000450657.1_Missense_Mutation_p.S55C			Q9NRM2	ZN277_HUMAN	zinc finger protein 277	55						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTAGAAGGTTCTCCATCTGTG	0.408													15	46					0	0	0	0	G	111927000	C	G	111927000	3	3	349	1	0	0	0	0	1	0	0	0	17907	913	32	2	170	2	ZNF277	7	111927000	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	6731416	111927000	47211663	44	66091											
KIAA1161	57462	broad.mit.edu	37	chr9	34372233	34372233	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgagtcattgactttgaTggcggccgcgcgcgaagata	9	9	13	10	5	1	4	1	3	0	1	1	5	1	4	1	2	0	0	1	2	2	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:34372233T>C	ENST00000297625.7	-	2	832	c.607A>G	c.(607-609)Atc>Gtc	p.I203V		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	237					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TTGACTTTGATGGCGGCCGCG	0.657													5	20					0	0	0	0	C	34372233	T	C	34372233	3	2	349	1	0	0	0	0	1	0	0	0	8262	1464	51	5	1439	5	KIAA1161	9	34372233	Missense_Mutation	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08		34372233	106841198	45	66092											
TLN1	7094	broad.mit.edu	37	chr9	35704667	35704667	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagggatgagcaccgtcaccTtctcagagactctccgggca	9	7	11	14	2	3	2	2	1	2	1	5	4	3	3	3	2	1	2	3	2	0	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:35704667T>A	ENST00000314888.9	-	44	6232	c.5880_splice	c.e44+1	p.K1960_splice	TLN1_ENST00000540444.1_Splice_Site_p.K1854_splice|TLN1_ENST00000464379.1_5'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1960					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCGTCACCTTCTCAGAGAC	0.597													25	86					0	0	0	0	A	35704667	T	A	35704667	5	1	349	1	0	0	0	0	0	0	1	0	16041	1623	56	5	1802	5	TLN1	9	35704667	Splice_Site	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08	1332434	35704667	105508764	46	66093											
DCAF10	79269	broad.mit.edu	37	chr9	37842132	37842132	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgctctgatgacactacaAtagcactatgggatctgaga	12	10	9	10	0	2	3	0	3	2	1	2	5	2	4	1	1	3	2	1	1	4	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:37842132A>G	ENST00000242323.7	+	3	774	c.700A>G	c.(700-702)Ata>Gta	p.I234V	DCAF10_ENST00000377724.3_Missense_Mutation_p.I234V|RP11-613M10.9_ENST00000540557.1_Intron			Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	234						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						TGACACTACAATAGCACTATG	0.363													13	56					0	0	0	0	G	37842132	A	G	37842132	3	3	349	1	0	0	0	0	1	0	0	0	4294	101	4	5	710	5	DCAF10	9	37842132	Missense_Mutation	SNP	A	TCGA-CV-A6JN-01A-11D-A31L-08	2137465	37842132	103371299	47	66094											
VPS13A	23230	broad.mit.edu	37	chr9	79852968	79852968	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggcttaccagataattCagaaaaaccccgcctcctgt	12	10	6	13	1	1	2	1	0	0	2	2	2	2	2	5	1	3	1	5	1	5	4			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:79852968C>A	ENST00000360280.3	+	18	1906	c.1646C>A	c.(1645-1647)tCa>tAa	p.S549*	VPS13A_ENST00000376634.4_Nonsense_Mutation_p.S549*|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.S549*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.S549*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	549					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCAGATAATTCAGAAAAACCC	0.328													9	44					0.335167	0.338107	1	0	A	79852968	C	A	79852968	4	1	349	1	0	0	0	0	0	1	0	0	17285	838	29	2	1716	2	VPS13A	9	79852968	Nonsense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	42010836	79852968	61360463	48	66095											
CCBL1	883	broad.mit.edu	37	chr9	131600355	131600355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggacacaaacacaggaCgaccccctgccatcattgtc	12	6	8	15	1	2	0	2	0	0	0	3	3	2	2	3	2	2	0	3	2	1	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:131600355C>T	ENST00000436267.2	-	7	844	c.695G>A	c.(694-696)cGt>cAt	p.R232H	CCBL1_ENST00000302586.3_Missense_Mutation_p.R138H|CCBL1_ENST00000320665.6_Missense_Mutation_p.R88H|CCBL1_ENST00000483599.1_5'UTR			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	138					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	AAACACAGGACGACCCCCTGC	0.542													57	173					0	0	0	0	T	131600355	C	T	131600355	3	4	349	1	0	0	0	0	1	0	0	0	2757	536	19	1	891	1	CCBL1	9	131600355	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	51747387	131600355	9613076	49	66096											
PRDM12	59335	broad.mit.edu	37	chr9	133540115	133540115	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgggactggcgctggcCgaggttatcacctccgacat	6	7	14	14	5	1	0	1	0	0	0	2	3	2	1	4	4	0	2	4	4	1	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:133540115C>T	ENST00000253008.2	+	1	135	c.75C>T	c.(73-75)gcC>gcT	p.A25A		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		TGGCGCTGGCCGAGGTTATCA	0.706													6	20					0	0	0	0	T	133540115	C	T	133540115	2	4	349	1	0	0	0	0	0	0	0	1	12533	639	23	1		1	PRDM12	9	133540115	Silent	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	1939760	133540115	7673316	50	66097											
TRIM3	10612	broad.mit.edu	37	chr11	6478168	6478168	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaacacctccggggccGagcccaggcgcagtgcctgc	7	3	13	18	3	0	0	0	0	0	0	1	1	1	0	6	3	5	2	6	3	1	0	rs146874288		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr11:6478168G>T	ENST00000525074.1	-	6	1182	c.788C>A	c.(787-789)tCg>tAg	p.S263*	TRIM3_ENST00000536344.1_Nonsense_Mutation_p.S144*|TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000359518.3_Nonsense_Mutation_p.S263*|TRIM3_ENST00000345851.3_Nonsense_Mutation_p.S263*	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	263					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCGGGGCCGAGCCCAGGCG	0.642													23	58					1.22574e-08	1.28145e-08	1	0	T	6478168	G	T	6478168	4	4	349	1	0	0	0	0	0	1	0	0	16599	1059	37	3	1474	3	TRIM3	11	6478168	Nonsense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08		6478168	128528348	51	66098											
OR4P4	81300	broad.mit.edu	37	chr11	55406592	55406592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttttttgcacctgcattGttcatttacattagaccggt	7	18	7	9	1	1	1	1	0	0	1	1	1	1	1	2	1	3	4	2	1	2	8			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr11:55406592G>T	ENST00000314612.2	+	1	759	c.759G>T	c.(757-759)ttG>ttT	p.L253F		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CACCTGCATTGTTCATTTACA	0.418													34	62					6.2361e-21	6.83002e-21	1	0	T	55406592	G	T	55406592	3	4	349	1	0	0	0	0	1	0	0	0	11151	1368	48	4	761	4	OR4P4	11	55406592	Missense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	48928424	55406592	79599924	52	66099											
SERPING1	710	broad.mit.edu	37	chr11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-																															ggctgaccctgctgaccctcCtgctgctgctgctggctggg																										TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr11:57365774_57365776delCTG	ENST00000403558.1	+	1	499_501	c.133_135delCTG	c.(133-135)del	p.L49del	SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del|SERPING1_ENST00000278407.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	15					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714													2	4	---	---	---	---					-	57365776	CTG	-	57365774	7	5	349	1	0	1	0	1	0	0	0	0	14203	680	24	0	33	0	SERPING1	11	57365774	In_Frame_Del	DEL	CTG	TCGA-CV-A6JN-01A-11D-A31L-08	1959182	57365774	77640742	53	66100											
KDM5A	5927	broad.mit.edu	37	chr12	422318	422318	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggctggaatgttcttggcTtcattcacaatgctttctaa	10	15	8	8	0	4	0	2	0	2	0	4	1	4	1	0	3	1	4	0	3	4	6			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:422318T>A	ENST00000399788.2	-	20	3302	c.2940A>T	c.(2938-2940)gaA>gaT	p.E980D	KDM5A_ENST00000382815.4_Missense_Mutation_p.E980D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	980					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTTCTTGGCTTCATTCACAA	0.398			T	NUP98	AML								21	45					0	0	0	0	A	422318	T	A	422318	3	1	349	1	0	0	0	0	1	0	0	0	8185	1606	56	5	2168	5	KDM5A	12	422318	Missense_Mutation	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08		422318	133429577	54	66101											
CHD4	1108	broad.mit.edu	37	chr12	6687075	6687075	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatgtcttgccaccgggcaTagccatggctattggaaaag	10	9	13	9	1	1	0	0	0	1	0	1	2	1	2	3	4	2	2	3	4	4	4			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:6687075T>C	ENST00000309577.6	-	36	5484	c.5321A>G	c.(5320-5322)tAt>tGt	p.Y1774C	CHD4_ENST00000357008.2_Missense_Mutation_p.Y1746C|CHD4_ENST00000544484.1_Missense_Mutation_p.Y1771C|CHD4_ENST00000544040.1_Missense_Mutation_p.Y1739C			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1746	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCACCGGGCATAGCCATGGCT	0.438													22	78					0	0	0	0	C	6687075	T	C	6687075	3	2	349	1	0	0	0	0	1	0	0	0	3356	1406	49	5	517	5	CHD4	12	6687075	Missense_Mutation	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08	6264757	6687075	127164820	55	66102											
C12orf40	283461	broad.mit.edu	37	chr12	40041631	40041631	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatagtatgcttcaccctcAgttcagcaaaatagagaact	15	11	6	9	0	3	1	3	0	0	1	3	2	3	1	1	0	3	4	1	0	7	6			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:40041631A>G	ENST00000324616.5	+	6	576	c.422A>G	c.(421-423)cAg>cGg	p.Q141R	C12orf40_ENST00000398716.1_Missense_Mutation_p.Q64R|C12orf40_ENST00000405531.3_Missense_Mutation_p.Q141R	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	141										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTTCACCCTCAGTTCAGCAAA	0.333													7	22					0	0	0	0	G	40041631	A	G	40041631	3	3	349	1	0	0	0	0	1	0	0	0	1698	188	7	5	444	5	C12orf40	12	40041631	Missense_Mutation	SNP	A	TCGA-CV-A6JN-01A-11D-A31L-08	33354556	40041631	93810264	56	66103											
ARID2	196528	broad.mit.edu	37	chr12	46245858	46245858	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattcaaagtgagactaatCagtgctcactaatcagtaat	17	11	6	7	0	4	1	4	1	0	1	4	2	4	1	0	0	1	2	0	0	5	4			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:46245858C>T	ENST00000334344.6	+	15	4124	c.3952C>T	c.(3952-3954)Cag>Tag	p.Q1318*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q928*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1169*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1318					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q1318*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGAGACTAATCAGTGCTCACT	0.393			"N, S, F"		hepatocellular carcinoma								15	34					0	0	0	0	T	46245858	C	T	46245858	4	4	349	1	0	0	0	0	0	1	0	0	917	827	29	2	4010	2	ARID2	12	46245858	Nonsense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	6204227	46245858	87606037	57	66104											
PPFIA2	8499	broad.mit.edu	37	chr12	82147831	82147831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtctttgctgggcaagtGagaggctttcctgggtctcc	6	12	14	9	0	2	1	0	1	2	1	4	3	3	1	2	3	1	3	2	3	2	2			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:82147831G>A	ENST00000550584.2	-	2	465	c.170C>T	c.(169-171)tCa>tTa	p.S57L	PPFIA2_ENST00000552948.1_Missense_Mutation_p.S57L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S57L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S57L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S57L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S57L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	316										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTGGGCAAGTGAGAGGCTTTC	0.517													7	25					0	0	0	0	A	82147831	G	A	82147831	3	1	349	1	0	0	0	0	1	0	0	0	12381	1294	45	2	3723	2	PPFIA2	12	82147831	Missense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	35901973	82147831	51704064	58	66105											
SLC25A3	5250	broad.mit.edu	37	chr12	98995265	98995265	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccctcctccacccgagAtgccagagtctctgaagaag	9	7	9	16	2	1	4	0	1	1	3	5	5	3	4	5	0	1	0	5	0	2	0			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:98995265A>T	ENST00000188376.5	+	7	1399	c.1045A>T	c.(1045-1047)Atg>Ttg	p.M349L	SLC25A3_ENST00000549338.1_Missense_Mutation_p.M349L|SLC25A3_ENST00000548847.1_Missense_Mutation_p.M312L|SLC25A3_ENST00000401722.3_Missense_Mutation_p.M349L|SLC25A3_ENST00000228318.3_Missense_Mutation_p.M350L|SLC25A3_ENST00000552981.1_Missense_Mutation_p.M349L|SLC25A3_ENST00000551917.1_Missense_Mutation_p.M350L	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	350					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TCCACCCGAGATGCCAGAGTC	0.463													11	40					0	0	0	0	T	98995265	A	T	98995265	3	4	349	1	0	0	0	0	1	0	0	0	14581	333	12	5	1200	5	SLC25A3	12	98995265	Missense_Mutation	SNP	A	TCGA-CV-A6JN-01A-11D-A31L-08	16847434	98995265	34856630	59	66106											
FBXO21	23014	broad.mit.edu	37	chr12	117583968	117583968	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaactccagatcttctggaTaccggatctccagctctgcg	9	10	8	14	2	4	1	0	0	4	1	6	3	5	3	3	2	4	1	3	2	2	2			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:117583968T>C	ENST00000427718.2	-	12	1864	c.1790A>G	c.(1789-1791)tAt>tGt	p.Y597C	FBXO21_ENST00000330622.5_Missense_Mutation_p.Y604C	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	604					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ATCTTCTGGATACCGGATCTC	0.453													13	51					0	0	0	0	C	117583968	T	C	117583968	3	2	349	1	0	0	0	0	1	0	0	0	5778	1406	49	5	79	5	FBXO21	12	117583968	Missense_Mutation	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08	18588703	117583968	16267927	60	66107											
SACS	26278	broad.mit.edu	37	chr13	23929166	23929166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaagcttatagataacatCaactgacaaggggaaatcag	18	7	8	8	0	2	2	2	1	0	1	2	3	2	3	1	2	3	1	1	2	7	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr13:23929166C>T	ENST00000382298.3	-	8	2173	c.1585G>A	c.(1585-1587)Gat>Aat	p.D529N	SACS_ENST00000382292.3_Missense_Mutation_p.D529N|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	529					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAGATAACATCAACTGACAAG	0.453													30	56					0	0	0	0	T	23929166	C	T	23929166	3	4	349	1	0	0	0	0	1	0	0	0	13889	826	29	2	12166	2	SACS	13	23929166	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08		23929166	91240712	61	66108											
TRPC4	7223	broad.mit.edu	37	chr13	38211127	38211127	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagagtcctcttcttttgcAtgtttctcctttggtattat	5	21	6	9	0	3	1	0	0	3	1	5	1	4	1	2	1	1	3	2	1	3	8			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr13:38211127A>T	ENST00000379705.3	-	11	3704	c.2847T>A	c.(2845-2847)caT>caA	p.H949Q	TRPC4_ENST00000447043.1_Missense_Mutation_p.H808Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.H808Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.H865Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.H800Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.H776Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.H776Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.H954Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	949	Binds to ITPR1, ITPR2 and ITPR3.				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)		CTTCTTTTGCATGTTTCTCCT	0.463													18	48					0	0	0	0	T	38211127	A	T	38211127	3	4	349	1	0	0	0	0	1	0	0	0	16675	214	8	5	90	5	TRPC4	13	38211127	Missense_Mutation	SNP	A	TCGA-CV-A6JN-01A-11D-A31L-08	14281961	38211127	76958751	62	66109											
MYCBP2	23077	broad.mit.edu	37	chr13	77847776	77847776	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtacttcgaacggtgAtttccaaaagaagctggaag	13	9	10	9	2	0	2	0	1	0	1	3	4	2	3	2	2	3	2	2	2	6	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr13:77847776A>G	ENST00000407578.2	-	5	1042	c.776T>C	c.(775-777)aTc>aCc	p.I259T	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.I221T|MYCBP2_ENST00000544440.2_Missense_Mutation_p.I221T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCGAACGGTGATTTCCAAAAG	0.388													19	53					0	0	0	0	G	77847776	A	G	77847776	3	3	349	1	0	0	0	0	1	0	0	0	10088	333	12	5	13576	5	MYCBP2	13	77847776	Missense_Mutation	SNP	A	TCGA-CV-A6JN-01A-11D-A31L-08	39636649	77847776	37322102	63	66110											
FANCM	57697	broad.mit.edu	37	chr14	45639847	45639847	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatcagaagaagaatttaaAttatggaacagactttatag	18	13	7	3	0	1	4	1	0	0	4	1	5	1	5	0	1	1	0	0	1	10	7			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr14:45639847A>G	ENST00000267430.5	+	12	2143	c.2058A>G	c.(2056-2058)aaA>aaG	p.K686K	FANCM_ENST00000542564.2_Silent_p.K660K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	686					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGAATTTAAATTATGGAACA	0.294								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	24					0	0	0	0	G	45639847	A	G	45639847	2	3	349	1	0	0	0	0	0	0	0	1	5716	98	4	5		5	FANCM	14	45639847	Silent	SNP	A	TCGA-CV-A6JN-01A-11D-A31L-08		45639847	61709693	64	66111											
SERPINA10	51156	broad.mit.edu	37	chr14	94750313	94750313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgaattataggagagTcggattcaccaccctgccca	10	10	9	12	1	1	2	1	1	0	1	3	4	2	3	4	2	1	0	4	2	3	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr14:94750313T>C	ENST00000554723.1	-	5	1862	c.1444A>G	c.(1444-1446)Act>Gct	p.T482A	SERPINA10_ENST00000554173.1_Missense_Mutation_p.T442A|SERPINA10_ENST00000393096.1_Missense_Mutation_p.T442A|SERPINA10_ENST00000261994.4_Missense_Mutation_p.T442A			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	442					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TATAGGAGAGTCGGATTCACC	0.473													4	45					0	0	0	0	C	94750313	T	C	94750313	3	2	349	1	0	0	0	0	1	0	0	0	14174	1667	58	5	14	5	SERPINA10	14	94750313	Missense_Mutation	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08	49110466	94750313	12599227	65	66112											
CYFIP1	23191	broad.mit.edu	37	chr15	22999449	22999449	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagctttctggatgacccCatctggcgcgggcctctgcc	4	9	13	15	3	3	1	0	1	3	0	3	3	3	3	4	4	2	1	4	4	0	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:22999449C>G	ENST00000313077.7	+	29	3446	c.3321C>G	c.(3319-3321)ccC>ccG	p.P1107P	CYFIP1_ENST00000560848.1_Silent_p.P1107P|CYFIP1_ENST00000435939.2_Silent_p.P676P	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1107					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGATGACCCCATCTGGCGCG	0.582													13	41					0	0	0	0	G	22999449	C	G	22999449	2	3	349	1	0	0	0	0	0	0	0	1	4169	581	21	4		4	CYFIP1	15	22999449	Silent	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08		22999449	79531943	66	66113											
MYO1E	4643	broad.mit.edu	37	chr15	59500990	59500990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtctgatctgccccctcacCcaccgcatgcatcgtggcgc	5	8	9	19	4	3	1	1	1	2	0	4	1	3	1	4	1	2	2	4	1	0	0			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:59500990C>T	ENST00000288235.4	-	14	1819	c.1420G>A	c.(1420-1422)Ggt>Agt	p.G474S		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	474	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GCCCCCTCACCCACCGCATGC	0.537													23	62					0	0	0	0	T	59500990	C	T	59500990	3	4	349	1	0	0	0	0	1	0	0	0	10142	623	22	4	1966	4	MYO1E	15	59500990	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	36501541	59500990	43030402	67	66114											
GCNT3	9245	broad.mit.edu	37	chr15	59910754	59910754	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacacccactacctctcccTcaccagagactgtgagcact	11	7	6	17	0	2	3	1	1	1	2	3	4	2	3	4	0	2	1	4	0	1	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:59910754T>C	ENST00000396065.1	+	3	765	c.317T>C	c.(316-318)cTc>cCc	p.L106P	GCNT3_ENST00000560585.1_Missense_Mutation_p.L106P	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	106					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TACCTCTCCCTCACCAGAGAC	0.502													23	45					0	0	0	0	C	59910754	T	C	59910754	3	2	349	1	0	0	0	0	1	0	0	0	6351	1551	54	5	319	5	GCNT3	15	59910754	Missense_Mutation	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08	409764	59910754	42620638	68	66115											
VPS13C	54832	broad.mit.edu	37	chr15	62253878	62253878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagacaccagactgaactgaTtatgaactctgattaaccca	15	9	6	11	0	1	6	0	4	1	2	1	6	1	6	2	0	3	0	2	0	4	2	rs114138011	by1000genomes	TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:62253878T>C	ENST00000261517.5	-	35	3891	c.3818A>G	c.(3817-3819)aAt>aGt	p.N1273S	VPS13C_ENST00000395898.3_Missense_Mutation_p.N1230S|VPS13C_ENST00000395896.4_Missense_Mutation_p.N1273S|VPS13C_ENST00000249837.3_Missense_Mutation_p.N1230S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1273					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACTGAACTGATTATGAACTCT	0.383													24	72					0	0	0	0	C	62253878	T	C	62253878	3	2	349	1	0	0	0	0	1	0	0	0	17287	1493	52	5	7675	5	VPS13C	15	62253878	Missense_Mutation	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08	2343124	62253878	40277514	69	66116											
SIN3A	25942	broad.mit.edu	37	chr15	75702549	75702549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtttttaaagagacgagCaacctgggcatacacctcct	11	10	9	11	1	0	1	0	0	0	1	1	3	1	1	3	2	3	3	3	2	4	4			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:75702549C>T	ENST00000394947.3	-	7	1401	c.1087G>A	c.(1087-1089)Gct>Act	p.A363T	SIN3A_ENST00000360439.4_Missense_Mutation_p.A363T|SIN3A_ENST00000394949.4_Missense_Mutation_p.A363T	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	363	Interaction with REST (By similarity).|PAH 2.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AAGAGACGAGCAACCTGGGCA	0.428													7	96					0	0	0	0	T	75702549	C	T	75702549	3	4	349	1	0	0	0	0	1	0	0	0	14413	710	25	4	2794	4	SIN3A	15	75702549	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	13448671	75702549	26828843	70	66117											
SLCO3A1	28232	broad.mit.edu	37	chr15	92647732	92647732	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcctgaggcaccccctGgagccagacagcagtgcctc	7	5	14	15	0	0	2	0	1	0	1	2	3	1	3	5	4	3	2	5	4	0	0			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:92647732G>T	ENST00000318445.6	+	4	1183	c.969G>T	c.(967-969)ctG>ctT	p.L323L	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.L323L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	323					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCACCCCCTGGAGCCAGACA	0.612													18	43					1.87028e-06	1.93768e-06	1	0	T	92647732	G	T	92647732	2	4	349	1	0	0	0	0	0	0	0	1	14816	1335	47	4		4	SLCO3A1	15	92647732	Silent	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	16945183	92647732	9883660	71	66118											
IL21R	50615	broad.mit.edu	37	chr16	27455956	27455956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagctatgagctgcaggtgCgggcagggcccatgcctggc	6	6	17	12	2	0	1	0	1	0	0	0	2	0	1	2	4	5	4	2	4	1	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr16:27455956C>T	ENST00000337929.3	+	6	1074	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	IL21R_ENST00000564089.1_Missense_Mutation_p.R201W|IL21R_ENST00000395754.4_Missense_Mutation_p.R201W|IL21R_ENST00000395755.1_Missense_Mutation_p.R201W|IL21R_ENST00000564583.1_3'UTR	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	201	Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.R201W(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GCTGCAGGTGCGGGCAGGGCC	0.597			T	BCL6	NHL								28	73					0	0	0	0	T	27455956	C	T	27455956	3	4	349	1	0	0	0	0	1	0	0	0	7724	759	27	1	619	1	IL21R	16	27455956	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08		27455956	62898797	72	66119											
PAPD5	64282	broad.mit.edu	37	chr16	50258846	50258846	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagatgaagttgccacatAtagagattggatatcaaagc	17	9	9	6	0	1	3	1	1	0	2	1	5	1	4	1	1	3	1	1	1	6	5			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr16:50258846A>G	ENST00000357464.3	+	10	1271	c.1271A>G	c.(1270-1272)tAt>tGt	p.Y424C	PAPD5_ENST00000561678.1_Missense_Mutation_p.Y393C|PAPD5_ENST00000436909.3_Missense_Mutation_p.Y503C|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	424					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GTTGCCACATATAGAGATTGG	0.378													40	114					0	0	0	0	G	50258846	A	G	50258846	3	3	349	1	0	0	0	0	1	0	0	0	11496	449	16	5	1546	5	PAPD5	16	50258846	Missense_Mutation	SNP	A	TCGA-CV-A6JN-01A-11D-A31L-08	22802890	50258846	40095907	73	66120											
TP53	7157	broad.mit.edu	37	chr17	7578519	7578522	+	Frame_Shift_Del	DEL	CAGT	CAGT	-																															tgcacagggcaggtcttggcCagttggcaaaacatcttgtt																										TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:7578519_7578522delCAGT	ENST00000420246.2	-	5	540_543	c.408_411delACTG	c.(406-411)cafs	p.QL136fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.QL136fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.QL136fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.QL136fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.QL136fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.QL136fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L137L(6)|p.Q136H(5)|p.Q136Q(4)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.L137P(3)|p.A138fs*11(3)|p.L137Q(2)|p.L137M(2)|p.N131fs*27(2)|p.L137_W146del10(1)|p.K132_A138delKMFCQLA(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.L137fs*12(1)|p.S127_Q136del10(1)|p.L137fs*33(1)|p.V73fs*9(1)|p.L137_A138insX(1)|p.A6_P10delAKTCP(1)|p.L137V(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGTCTTGGCCAGTTGGCAAAACA	0.564		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	30	---	---	---	---					-	7578522	CAGT	-	7578519	7	5	349	1	0	1	0	1	0	0	0	0	16476	581	21	0	887	0	TP53	17	7578519	Frame_Shift_Del	DEL	CAGT	TCGA-CV-A6JN-01A-11D-A31L-08		7578519	73616691	74	66121											
TOP3A	7156	broad.mit.edu	37	chr17	18208525	18208525	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcactggcgagtctctcgttCcaaagttttcttaagttcgc	7	14	9	11	3	2	0	0	0	2	0	6	1	3	0	1	1	0	4	1	1	2	5			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:18208525C>G	ENST00000321105.5	-	5	614	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	TOP3A_ENST00000542570.1_Missense_Mutation_p.E39Q	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	134	Toprim.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GTCTCTCGTTCCAAAGTTTTC	0.468													40	21					0	0	0	0	G	18208525	C	G	18208525	3	3	349	1	0	0	0	0	1	0	0	0	16462	864	30	2	2665	2	TOP3A	17	18208525	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	10630006	18208525	62986685	75	66122											
CRHR1	1394	broad.mit.edu	37	chr17	43906597	43906597	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaaaaaagcaaggtgcActaccatgtcgcagtcatca	16	6	8	11	1	2	1	2	0	0	1	3	1	2	1	2	1	3	3	2	1	5	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:43906597A>C	ENST00000314537.5	+	5	569	c.344A>C	c.(343-345)cAc>cCc	p.H115P	CRHR1_ENST00000398285.3_Missense_Mutation_p.H115P|CRHR1_ENST00000339069.5_Missense_Mutation_p.H14P|CRHR1_ENST00000577353.1_Missense_Mutation_p.H115P|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000352855.5_Missense_Mutation_p.H75P	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	115					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		AGCAAGGTGCACTACCATGTC	0.577													5	20					0	0	0	0	C	43906597	A	C	43906597	3	2	349	1	0	0	0	0	1	0	0	0	3901	159	6	5	362	5	CRHR1	17	43906597	Missense_Mutation	SNP	A	TCGA-CV-A6JN-01A-11D-A31L-08	25698072	43906597	37288613	76	66123											
GOSR2	9570	broad.mit.edu	37	chr17	45009511	45009511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcatcggcgccatgcaagGgagcagcaggagagacagcg	12	2	16	11	3	0	1	0	0	0	1	1	4	0	3	1	3	5	4	1	3	1	0			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:45009511G>C	ENST00000415811.2	+	4	337	c.282G>C	c.(280-282)agG>agC	p.R94S	GOSR2_ENST00000439730.2_Missense_Mutation_p.R94S|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R94S|GOSR2_ENST00000576910.2_Missense_Mutation_p.R94S|GOSR2_ENST00000575949.1_Missense_Mutation_p.R94S|GOSR2_ENST00000393456.2_Missense_Mutation_p.R94S|GOSR2_ENST00000225567.4_Missense_Mutation_p.R94S	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	94					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			GCCATGCAAGGGAGCAGCAGG	0.552													28	122					0	0	0	0	C	45009511	G	C	45009511	3	2	349	1	0	0	0	0	1	0	0	0	6626	1223	43	4	296	4	GOSR2	17	45009511	Missense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	1102914	45009511	36185699	77	66124											
NGFR	4804	broad.mit.edu	37	chr17	47579544	47579544	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtggagccaaccagacCgtgtgtgagccctgcctgga	7	8	13	13	1	0	2	0	1	0	1	0	4	0	4	6	2	4	0	6	2	1	1	rs145359531	byFrequency	TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:47579544C>A	ENST00000504201.1	+	0	379				NGFR_ENST00000172229.3_Silent_p.T62T			P08138	TNR16_HUMAN	nerve growth factor receptor						anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CCAACCAGACCGTGTGTGAGC	0.652													22	57					1.50039e-11	1.61257e-11	1	0	A	47579544	C	A	47579544	1	1	349	1	0	0	0	0	0	0	0	0	10466	639	23	3		3	NGFR	17	47579544	Translation_Start_Site	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	2570033	47579544	33615666	78	66125											
DSG1	1828	broad.mit.edu	37	chr18	28914135	28914135	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatagaaatgaatgaaagAacaaatgtgggaattttaaa	21	9	10	1	0	0	5	0	2	0	3	0	7	0	6	0	1	1	0	0	1	9	3			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr18:28914135A>G	ENST00000257192.4	+	8	1187	c.975A>G	c.(973-975)agA>agG	p.R325R		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	325	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGAATGAAAGAACAAATGTGG	0.264													19	26					0	0	0	0	G	28914135	A	G	28914135	2	3	349	1	0	0	0	0	0	0	0	1	4812	243	9	5		5	DSG1	18	28914135	Silent	SNP	A	TCGA-CV-A6JN-01A-11D-A31L-08		28914135	49163113	79	66126											
NCCRP1	342897	broad.mit.edu	37	chr19	39691350	39691350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctggtgggctgcggcGgacacgggtgaccgactcct	5	6	18	12	4	0	1	0	1	0	0	1	4	1	3	3	6	2	1	3	6	0	0			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr19:39691350G>A	ENST00000339852.4	+	6	804	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	261	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGGCTGCGGCGGACACGGGTG	0.632													49	246					0	0	0	0	A	39691350	G	A	39691350	3	1	349	1	0	0	0	0	1	0	0	0	10283	1116	39	1	804	1	NCCRP1	19	39691350	Missense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08		39691350	19437633	80	66127											
NOSIP	51070	broad.mit.edu	37	chr19	50060443	50060443	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccccgcacatggtcctGcgaggccgcccgctgaagct	7	5	13	16	4	0	1	0	1	0	0	1	3	1	1	5	2	3	3	5	2	2	0			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr19:50060443G>A	ENST00000391853.3	-	6	473	c.322C>T	c.(322-324)Cag>Tag	p.Q108*	NOSIP_ENST00000596358.1_Nonsense_Mutation_p.Q108*|NOSIP_ENST00000339093.3_Nonsense_Mutation_p.Q108*	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	108					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		ACATGGTCCTGCGAGGCCGCC	0.682													9	10					0	0	0	0	A	50060443	G	A	50060443	4	1	349	1	0	0	0	0	0	1	0	0	10615	1328	46	4	603	4	NOSIP	19	50060443	Nonsense_Mutation	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	10369093	50060443	9068540	81	66128											
BCR	613	broad.mit.edu	37	chr22	23596158	23596158	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcgggagccctggagtcCactaaagcggtgagtcccca	8	7	13	13	2	1	1	0	1	1	0	4	3	3	3	4	3	2	0	4	3	2	1			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr22:23596158C>T	ENST00000305877.8	+	2	2203	c.1452C>T	c.(1450-1452)tcC>tcT	p.S484S	BCR_ENST00000359540.3_Silent_p.S484S	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	484					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCCTGGAGTCCACTAAAGCGG	0.647			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								5	23					0	0	0	0	T	23596158	C	T	23596158	2	4	349	1	0	0	0	0	0	0	0	1	1392	581	21	4		4	BCR	22	23596158	Silent	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08		23596158	27708408	82	66129											
GGT1	2678	broad.mit.edu	37	chr22	25016930	25016930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgggagggggagagactgaCcctgccgcagctggctgaca	8	5	17	11	2	0	3	0	2	0	1	1	6	0	5	2	4	2	3	2	4	0	0			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr22:25016930C>A	ENST00000400382.1	+	9	1381	c.626C>A	c.(625-627)aCc>aAc	p.T209N	GGT1_ENST00000466310.1_Intron|GGT1_ENST00000400383.1_Missense_Mutation_p.T209N|GGT1_ENST00000406383.2_Missense_Mutation_p.T209N|GGT1_ENST00000400380.1_Missense_Mutation_p.T209N|GGT1_ENST00000248923.4_Missense_Mutation_p.T209N			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	209					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GAGAGACTGACCCTGCCGCAG	0.632													9	17					5.16669e-11	5.50156e-11	1	0	A	25016930	C	A	25016930	3	1	349	1	0	0	0	0	1	0	0	0	6412	507	18	4	644	4	GGT1	22	25016930	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	1420772	25016930	26287636	83	66130											
CARD10	29775	broad.mit.edu	37	chr22	37892523	37892523	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggttctctgctgggcctcGgcttccaggcacgccccctc	4	9	11	17	2	1	0	0	0	1	0	5	0	2	0	4	4	1	4	4	4	1	2			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr22:37892523G>A	ENST00000403299.1	-	14	2208	c.1992C>T	c.(1990-1992)gcC>gcT	p.A664A	CARD10_ENST00000406271.3_Silent_p.A378A|CARD10_ENST00000251973.5_Silent_p.A664A			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	664					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCTGGGCCTCGGCTTCCAGGC	0.612													15	39					0	0	0	0	A	37892523	G	A	37892523	2	1	349	1	0	0	0	0	0	0	0	1	2669	1103	39	1		1	CARD10	22	37892523	Silent	SNP	G	TCGA-CV-A6JN-01A-11D-A31L-08	12875593	37892523	13412043	84	66131											
WBP2NL	164684	broad.mit.edu	37	chr22	42422962	42422962	+	Missense_Mutation	SNP	T	T	C																															aggatatggagccccacctcTaggatatggagccccacctc																										TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr22:42422962T>C	ENST00000328823.9	+	6	738	c.707T>C	c.(706-708)cTa>cCa	p.L236P	WBP2NL_ENST00000543212.1_Missense_Mutation_p.L162P	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	236	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GCCCCACCTCTAGGATATGGA	0.597													23	324					0	0	0	0	C	42422962	T	C	42422962	3	2	349	1	0	0	0	0	1	0	0	0	17356	1522	53	5	729	5	WBP2NL	22	42422962	Missense_Mutation	SNP	T	TCGA-CV-A6JN-01A-11D-A31L-08	4530439	42422962	8881604	85	66132	818	2									
WBP2NL	164684	broad.mit.edu	37	chr22	42422963	42422963	+	Silent	SNP	A	A	T																															ggatatggagccccacctctAggatatggagccccacctct																										TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr22:42422963A>T	ENST00000328823.9	+	6	739	c.708A>T	c.(706-708)ctA>ctT	p.L236L	WBP2NL_ENST00000543212.1_Silent_p.L162L	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	236	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CCCCACCTCTAGGATATGGAG	0.602													50	294					0	0	0	0	T	42422963	A	T	42422963	2	4	349	1	0	0	0	0	0	0	0	1	17356	407	15	5		5	WBP2NL	22	42422963	Silent	SNP	A	TCGA-CV-A6JN-01A-11D-A31L-08	1	42422963	8881603	86	66133	818	2									
MTMR8	55613	broad.mit.edu	37	chrX	63548721	63548721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctttatagagagggttcCtgaagtctggtttcctctga	8	14	11	8	0	2	3	0	2	2	1	4	4	4	3	3	2	1	2	3	2	3	5			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chrX:63548721C>A	ENST00000374852.3	-	12	1479	c.1412G>T	c.(1411-1413)aGg>aTg	p.R471M	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	471	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GAGAGGGTTCCTGAAGTCTGG	0.388													14	9					1.52009e-12	1.64916e-12	1	0	A	63548721	C	A	63548721	3	1	349	1	0	0	0	0	1	0	0	0	10019	681	24	4	714	4	MTMR8	23	63548721	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08		63548721	91721839	87	66134											
TBC1D8B	54885	broad.mit.edu	37	chrX	106066678	106066678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacccagtcctttataatcCtctacagatcaccaaaaggt	13	11	5	12	0	2	2	1	1	1	1	4	2	4	2	4	1	1	0	4	1	5	4			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chrX:106066678C>T	ENST00000357242.5	+	5	983	c.809C>T	c.(808-810)cCt>cTt	p.P270L	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P270L|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P270L|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.P270L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	270						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTTATAATCCTCTACAGATC	0.308													18	19					0	0	0	0	T	106066678	C	T	106066678	3	4	349	1	0	0	0	0	1	0	0	0	15720	681	24	4	827	4	TBC1D8B	23	106066678	Missense_Mutation	SNP	C	TCGA-CV-A6JN-01A-11D-A31L-08	42517957	106066678	49203882	88	66135											
CHD5	26038	broad.mit.edu	37	chr1	6190292	6190292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattgtgcgggttccagtccGagtcgtagatgatgacagtg	8	11	14	8	3	0	3	0	2	0	1	3	4	2	3	2	1	1	2	2	1	1	3			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:6190292G>A	ENST00000262450.3	-	22	3458	c.3359C>T	c.(3358-3360)tCg>tTg	p.S1120L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1120	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTTCCAGTCCGAGTCGTAGAT	0.652													8	45					0	0	0	0	A	6190292	G	A	6190292	3	1	350	1	0	0	0	0	1	0	0	0	3357	1059	37	1	2585	1	CHD5	1	6190292	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08		6190292	243060329	1	66136											
TAS1R1	80835	broad.mit.edu	37	chr1	6635003	6635003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggccggggccaccgtcGtggttgttttttccagccgg	3	10	14	14	4	0	0	0	0	0	0	2	0	1	0	6	5	1	2	6	5	0	4			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:6635003G>A	ENST00000333172.6	+	3	1004	c.811G>A	c.(811-813)Gtg>Atg	p.V271M	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.V271M	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	271					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGCCACCGTCGTGGTTGTTTT	0.617													13	41					0	0	0	0	A	6635003	G	A	6635003	3	1	350	1	0	0	0	0	1	0	0	0	15653	1145	40	1	821	1	TAS1R1	1	6635003	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	444711	6635003	242615618	2	66137											
MIER1	57708	broad.mit.edu	37	chr1	67423735	67423744	+	Splice_Site	DEL	TATTTAGGAA	TATTTAGGAA	-																															gattaccttttattttgattTatttaggaaggcgacatgcc																										TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:67423735_67423744delTATTTAGGAA	ENST00000357692.2	+	6	488_491	c.231_splice	c.e6-1	p.77_splice	MIER1_ENST00000371016.1_Splice_Site_p.77_splice|MIER1_ENST00000371018.3_Splice_Site_p.77_splice|MIER1_ENST00000401042.3_Splice_Site_p.60_splice|MIER1_ENST00000355977.6_5'UTR|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000401041.1_Splice_Site_p.113_splice|MIER1_ENST00000371014.1_Splice_Site_p.113_splice|MIER1_ENST00000355356.3_Splice_Site_p.60_splice	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	84	Glu-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TATTTTGATTTATTTAGGAAGGCGACATGC	0.367													8	69	---	---	---	---					-	67423744	TATTTAGGAA	-	67423735	8	5	350	1	0	1	0	1	0	0	1	0	9649	1769	61	0		0	MIER1	1	67423735	Splice_Site	DEL	TATTTAGGAA	TCGA-CV-A6JO-01B-11D-A34J-08	60788732	67423735	181826886	3	66138											
SYDE2	84144	broad.mit.edu	37	chr1	85624650	85624650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccattttgctataattttctCcgatttttctatcttctgaa	8	21	3	9	1	4	1	0	1	4	0	5	2	4	1	2	0	1	1	2	0	4	10			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:85624650C>A	ENST00000341460.5	-	7	3417	c.3368G>T	c.(3367-3369)gGa>gTa	p.G1123V		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1123					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATAATTTTCTCCGATTTTTCT	0.363													5	52					0.014758	0.0152007	1	0	A	85624650	C	A	85624650	3	1	350	1	0	0	0	0	1	0	0	0	15527	855	30	2	220	2	SYDE2	1	85624650	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	18200915	85624650	163625971	4	66139											
ZNHIT6	54680	broad.mit.edu	37	chr1	86146538	86146538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttttttctatgtactcagCttgactttgaggaaactgga	9	16	8	8	0	2	2	1	2	1	0	2	4	2	4	1	2	3	2	1	2	3	7			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:86146538C>A	ENST00000431532.2	-	7	1100	c.952G>T	c.(952-954)Gct>Tct	p.A318S	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.A357S	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	357					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ATGTACTCAGCTTGACTTTGA	0.323													3	32					0.004672	0.00491037	1	0	A	86146538	C	A	86146538	3	1	350	1	0	0	0	0	1	0	0	0	18302	797	28	4	363	4	ZNHIT6	1	86146538	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	521888	86146538	163104083	5	66140											
FLG	2312	broad.mit.edu	37	chr1	152278802	152278802	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggtgacgcgaccctgAgtgcctggagccgtctcctg	5	10	13	13	3	2	2	1	2	1	0	3	4	2	3	4	2	2	0	4	2	0	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:152278802A>C	ENST00000368799.1	-	3	8595	c.8560T>G	c.(8560-8562)Tca>Gca	p.S2854A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2854	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCGACCCTGAGTGCCTGGAG	0.572									Ichthyosis				55	986					0	0	0	0	C	152278802	A	C	152278802	3	2	350	1	0	0	0	0	1	0	0	0	5967	304	11	5	3629	5	FLG	1	152278802	Missense_Mutation	SNP	A	TCGA-CV-A6JO-01B-11D-A34J-08	66132264	152278802	96971819	6	66141											
NUP210L	91181	broad.mit.edu	37	chr1	154031152	154031152	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccaaggtaaaaaatccAggatgtaatggaactaactg	17	8	8	8	0	0	0	0	0	0	0	2	2	2	2	3	3	2	2	3	3	7	3			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:154031152A>T	ENST00000368559.3	-	21	2939	c.2868T>A	c.(2866-2868)ccT>ccA	p.P956P	NUP210L_ENST00000271854.3_Silent_p.P956P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	956						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TAAAAAATCCAGGATGTAATG	0.433													15	67					0	0	0	0	T	154031152	A	T	154031152	2	4	350	1	0	0	0	0	0	0	0	1	10832	175	7	5		5	NUP210L	1	154031152	Silent	SNP	A	TCGA-CV-A6JO-01B-11D-A34J-08	1752350	154031152	95219469	7	66142											
LMNA	4000	broad.mit.edu	37	chr1	156108383	156108383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgacaaggcatctgccagCggctcaggagcccaggtggg	8	4	16	13	2	2	0	1	0	1	0	2	2	2	1	3	5	3	2	3	5	1	0			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:156108383C>T	ENST00000368300.4	+	11	2015	c.1803C>T	c.(1801-1803)agC>agT	p.S601S	LMNA_ENST00000473598.2_Silent_p.S502S|LMNA_ENST00000448611.2_Silent_p.S489S|LMNA_ENST00000368299.3_Silent_p.S601S|LMNA_ENST00000347559.2_Silent_p.S571S|LMNA_ENST00000496738.1_3'UTR	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	601	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CATCTGCCAGCGGCTCAGGAG	0.697									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				5	26					0	0	0	0	T	156108383	C	T	156108383	2	4	350	1	0	0	0	0	0	0	0	1	8903	767	27	1		1	LMNA	1	156108383	Silent	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	2077231	156108383	93142238	8	66143											
HDGF	3068	broad.mit.edu	37	chr1	156713619	156713619	+	Frame_Shift_Del	DEL	C	C	-																															aacctccaaggtggctgcctCcttctcctctccttcagggt																										TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:156713619delC	ENST00000357325.5	-	5	855	c.541delG	c.(541-543)agfs	p.E181fs	HDGF_ENST00000368209.5_Frame_Shift_Del_p.E174fs|HDGF_ENST00000368206.5_Frame_Shift_Del_p.E197fs|HDGF_ENST00000416666.2_Frame_Shift_Del_p.E149fs|HDGF_ENST00000537739.1_Frame_Shift_Del_p.E181fs|HDGF_ENST00000465180.1_5'UTR	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	181	Glu-rich.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		GTGGCTGCCTCCTTCTCCTCT	0.607													8	42	---	---	---	---					-	156713619	C	-	156713619	7	5	350	1	0	1	0	1	0	0	0	0	7068	864	30	0	189	0	HDGF	1	156713619	Frame_Shift_Del	DEL	C	TCGA-CV-A6JO-01B-11D-A34J-08	605236	156713619	92537002	9	66144											
LYST	1130	broad.mit.edu	37	chr1	235993708	235993708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtgccagtgagttactgtCggtgctcatgaccgagctat	8	11	12	10	3	1	2	1	2	0	0	2	3	1	2	2	1	4	3	2	1	2	2	rs141312203	byFrequency	TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:235993708C>T	ENST00000389794.3	-	3	184	c.10G>A	c.(10-12)Gac>Aac	p.D4N	LYST_ENST00000389793.2_Missense_Mutation_p.D4N|LYST_ENST00000536965.1_Missense_Mutation_p.D4N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	4					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAGTTACTGTCGGTGCTCATG	0.403													9	36					0	0	0	0	T	235993708	C	T	235993708	3	4	350	1	0	0	0	0	1	0	0	0	9193	884	31	1	11599	1	LYST	1	235993708	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	79280089	235993708	13256913	10	66145											
DARS	1615	broad.mit.edu	37	chr2	136669047	136669047	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctctcatgaacatatcgTaagagttggactgtttctgc	9	14	8	10	1	2	2	1	1	2	1	5	3	3	3	1	1	2	3	1	1	3	4			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr2:136669047T>C	ENST00000264161.4	-	14	1462	c.1247A>G	c.(1246-1248)tAc>tGc	p.Y416C	DARS_ENST00000537273.1_Missense_Mutation_p.Y316C	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	416					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GAACATATCGTAAGAGTTGGA	0.373													11	101					0	0	0	0	C	136669047	T	C	136669047	3	2	350	1	0	0	0	0	1	0	0	0	4274	1638	57	5	270	5	DARS	2	136669047	Missense_Mutation	SNP	T	TCGA-CV-A6JO-01B-11D-A34J-08		136669047	106530326	11	66146											
CASP8	841	broad.mit.edu	37	chr2	202131273	202131273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgaagatctggcctccCtcaagttcctgagcctggac	9	9	10	13	0	2	3	1	2	1	1	4	4	4	4	4	2	1	1	4	2	2	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr2:202131273C>T	ENST00000358485.4	+	2	437	c.241C>T	c.(241-243)Ctc>Ttc	p.L81F	CASP8_ENST00000323492.7_Missense_Mutation_p.L22F|CASP8_ENST00000264274.9_Missense_Mutation_p.L22F|CASP8_ENST00000264275.5_Missense_Mutation_p.L22F|CASP8_ENST00000432109.2_Missense_Mutation_p.L22F|CASP8_ENST00000392258.3_Missense_Mutation_p.L22F|CASP8_ENST00000392266.3_Missense_Mutation_p.L22F|CASP8_ENST00000392259.2_Missense_Mutation_p.L22F	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	22					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCTGGCCTCCCTCAAGTTCCT	0.423										HNSCC(4;0.00038)			7	55					0	0	0	0	T	202131273	C	T	202131273	3	4	350	1	0	0	0	0	1	0	0	0	2702	681	24	4	247	4	CASP8	2	202131273	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	65462226	202131273	41068100	12	66147											
TRIP12	9320	broad.mit.edu	37	chr2	230705568	230705568	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggagcccgtggtctttTggcgtgtgctccgcctcaaa	6	10	12	13	3	2	0	1	0	1	0	3	1	3	1	3	3	2	1	3	3	1	2			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr2:230705568T>C	ENST00000283943.5	-	4	1155	c.977A>G	c.(976-978)cAa>cGa	p.Q326R	TRIP12_ENST00000409677.1_Missense_Mutation_p.Q368R|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q368R	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	326					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CGTGGTCTTTTGGCGTGTGCT	0.403													6	39					0	0	0	0	C	230705568	T	C	230705568	3	2	350	1	0	0	0	0	1	0	0	0	16651	1812	63	5	5153	5	TRIP12	2	230705568	Missense_Mutation	SNP	T	TCGA-CV-A6JO-01B-11D-A34J-08	28574295	230705568	12493805	13	66148											
NEK4	6787	broad.mit.edu	37	chr3	52780141	52780141	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgaccactctacgttggTtttcagcctctttttgtgtt	5	18	8	10	1	3	1	1	1	2	0	3	1	3	1	2	1	2	3	2	1	1	7			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:52780141T>G	ENST00000233027.5	-	10	1965	c.1763A>C	c.(1762-1764)aAc>aCc	p.N588T	NEK4_ENST00000383721.4_Missense_Mutation_p.N542T|NEK4_ENST00000535191.1_Missense_Mutation_p.N499T	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	588					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TCTACGTTGGTTTTCAGCCTC	0.413													30	183					0	0	0	0	G	52780141	T	G	52780141	3	3	350	1	0	0	0	0	1	0	0	0	10396	1725	60	5	790	5	NEK4	3	52780141	Missense_Mutation	SNP	T	TCGA-CV-A6JO-01B-11D-A34J-08		52780141	145242289	14	66149											
DCBLD2	131566	broad.mit.edu	37	chr3	98530369	98530369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcattgctgttccgaggagGtggaggttgagtaagttttg	7	14	16	4	1	1	1	1	1	0	0	2	4	2	3	1	4	1	5	1	4	1	6			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:98530369G>T	ENST00000326840.6	-	11	1755	c.1393C>A	c.(1393-1395)Cct>Act	p.P465T	DCBLD2_ENST00000326857.9_Missense_Mutation_p.P465T	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	465	Poly-Pro.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TTCCGAGGAGGTGGAGGTTGA	0.328													12	73					0.0167234	0.0170545	1	0	T	98530369	G	T	98530369	3	4	350	1	0	0	0	0	1	0	0	0	4313	1261	44	4	958	4	DCBLD2	3	98530369	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	45750228	98530369	99492061	15	66150											
PRR23B	389151	broad.mit.edu	37	chr3	138739005	138739005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccggttggggagtccatccGgagctccgggaactcggggt	5	7	18	11	4	0	0	0	0	0	0	4	3	3	3	4	7	2	2	4	7	1	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:138739005G>A	ENST00000329447.5	-	1	763	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	167										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGTCCATCCGGAGCTCCGGG	0.647													5	44					0	0	0	0	A	138739005	G	A	138739005	3	1	350	1	0	0	0	0	1	0	0	0	12675	1115	39	1	302	1	PRR23B	3	138739005	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	40208636	138739005	59283425	16	66151											
PIK3CA	5290	broad.mit.edu	37	chr3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgcaacctacgtgaaTgtaaatattcgagacattga	13	13	8	7	2	0	3	0	2	0	1	1	4	0	3	1	0	3	2	1	0	6	6	rs121913284		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTACGTGAATGTAAATATTC	0.308		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			22	97					0	0	0	0	A	178921553	T	A	178921553	3	1	350	1	0	0	0	0	1	0	0	0	11985	1461	51	5	1049	5	PIK3CA	3	178921553	Missense_Mutation	SNP	T	TCGA-CV-A6JO-01B-11D-A34J-08	40182548	178921553	19100877	17	66152											
EPHB3	2049	broad.mit.edu	37	chr3	184297479	184297479	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctgtgccctgcaggggaAtttggggaagtgtgccgtgg	5	9	18	9	1	0	0	0	0	0	0	0	2	0	2	3	5	3	1	3	5	2	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:184297479A>C	ENST00000330394.2	+	11	2381	c.1929A>C	c.(1927-1929)gaA>gaC	p.E643D	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	643	Protein kinase.					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)			CTGCAGGGGAATTTGGGGAAG	0.617													5	47					0	0	0	0	C	184297479	A	C	184297479	3	2	350	1	0	0	0	0	1	0	0	0	5214	98	4	5	1971	5	EPHB3	3	184297479	Missense_Mutation	SNP	A	TCGA-CV-A6JO-01B-11D-A34J-08	5375926	184297479	13724951	18	66153											
ACAP2	23527	broad.mit.edu	37	chr3	195015477	195015477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaactattggctgacaccGtggagggtaaagattctctt	12	12	10	7	1	1	2	0	1	1	1	2	3	1	3	1	3	1	2	1	3	5	6	rs139056381	byFrequency	TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:195015477G>A	ENST00000326793.6	-	18	1966	c.1736C>T	c.(1735-1737)aCg>aTg	p.T579M		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	579					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GGCTGACACCGTGGAGGGTAA	0.363													23	76					0	0	0	0	A	195015477	G	A	195015477	3	1	350	1	0	0	0	0	1	0	0	0	119	1145	40	1	624	1	ACAP2	3	195015477	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	10717998	195015477	3006953	19	66154											
HHIP	64399	broad.mit.edu	37	chr4	145636573	145636573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatcttgggatttggagaaGatgaactaggtactgtacaa	14	11	11	5	0	1	3	0	1	1	2	1	5	1	4	0	3	3	2	0	3	6	5			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr4:145636573G>C	ENST00000296575.3	+	10	2324	c.1669G>C	c.(1669-1671)Gat>Cat	p.D557H		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	557						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ATTTGGAGAAGATGAACTAGG	0.423													19	117					0	0	0	0	C	145636573	G	C	145636573	3	2	350	1	0	0	0	0	1	0	0	0	7142	942	33	2	1707	2	HHIP	4	145636573	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08		145636573	45517703	20	66155											
FHDC1	85462	broad.mit.edu	37	chr4	153881733	153881733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaggtaaagaagttaaaagCgtttagtggcgacgtgtcga	13	11	13	4	4	0	1	0	0	0	1	1	3	0	1	0	2	1	3	0	2	7	5	rs149221149		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr4:153881733C>T	ENST00000511601.1	+	5	868	c.680C>T	c.(679-681)gCg>gTg	p.A227V	FHDC1_ENST00000260008.3_Missense_Mutation_p.A227V			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	227	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAGTTAAAAGCGTTTAGTGGC	0.363													10	94					0	0	0	0	T	153881733	C	T	153881733	3	4	350	1	0	0	0	0	1	0	0	0	5921	768	27	1	694	1	FHDC1	4	153881733	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	8245160	153881733	37272543	21	66156											
FAT1	2195	broad.mit.edu	37	chr4	187518160	187518160	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attccaattccttccgccaaCccaatgttccacggcgtgga	9	10	7	15	3	0	0	0	0	0	0	4	1	4	1	6	2	1	1	6	2	3	4			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr4:187518160C>G	ENST00000441802.2	-	25	12743	c.12534G>C	c.(12532-12534)ggG>ggC	p.G4178G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4178					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTCCGCCAACCCAATGTTCC	0.522										HNSCC(5;0.00058)			13	93					0	0	0	0	G	187518160	C	G	187518160	2	3	350	1	0	0	0	0	0	0	0	1	5734	494	18	4		4	FAT1	4	187518160	Silent	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	33636427	187518160	3636116	22	66157											
DNAH5	1767	broad.mit.edu	37	chr5	13714705	13714705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggtgcagcccaaacacctCagggctgtcataggcaggca	10	5	14	12	0	2	0	2	0	0	0	2	0	2	0	2	5	3	4	2	5	2	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:13714705C>G	ENST00000265104.4	-	75	13038	c.12934G>C	c.(12934-12936)Gag>Cag	p.E4312Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4312					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAAACACCTCAGGGCTGTCA	0.512									Kartagener syndrome				8	50					0	0	0	0	G	13714705	C	G	13714705	3	3	350	1	0	0	0	0	1	0	0	0	4641	835	29	2	960	2	DNAH5	5	13714705	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08		13714705	167200555	23	66158											
UGT3A1	133688	broad.mit.edu	37	chr5	35957502	35957502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accctgcatccccaaagttgGcaatgaagttgtccaagtcc	11	9	8	13	0	0	1	0	1	0	0	3	1	3	1	5	1	1	4	5	1	4	2			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:35957502G>C	ENST00000274278.3	-	5	1220	c.863C>G	c.(862-864)gCc>gGc	p.A288G	UGT3A1_ENST00000503189.1_Missense_Mutation_p.A288G|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A254G	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	288						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)			CCCAAAGTTGGCAATGAAGTT	0.468													4	33					0	0	0	0	C	35957502	G	C	35957502	3	2	350	1	0	0	0	0	1	0	0	0	17059	1203	42	4	720	4	UGT3A1	5	35957502	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	22242797	35957502	144957758	24	66159											
PPWD1	23398	broad.mit.edu	37	chr5	64859174	64859174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcgattttcagcagagaCgtagaaggcgccgggacccg	10	6	15	10	5	1	2	1	0	0	2	1	5	1	3	2	2	2	3	2	2	3	4			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:64859174C>T	ENST00000261308.5	+	1	109	c.37C>T	c.(37-39)Cgt>Tgt	p.R13C	PPWD1_ENST00000538977.1_5'UTR|PPWD1_ENST00000535264.1_5'UTR	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	13	Poly-Arg.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCAGCAGAGACGTAGAAGGCG	0.562													13	71					0	0	0	0	T	64859174	C	T	64859174	3	4	350	1	0	0	0	0	1	0	0	0	12490	536	19	1	39	1	PPWD1	5	64859174	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	28901672	64859174	116056086	25	66160											
PAPD4	167153	broad.mit.edu	37	chr5	78919085	78919085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgttttcaggagattaagcGatgaaaaaaaccttcctctt	13	14	7	7	1	2	2	1	1	1	1	3	4	3	2	2	1	2	1	2	1	4	6			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:78919085G>A	ENST00000453514.1	+	4	931	c.238G>A	c.(238-240)Gat>Aat	p.D80N	PAPD4_ENST00000296783.3_Missense_Mutation_p.D80N|PAPD4_ENST00000423041.2_Missense_Mutation_p.D80N|PAPD4_ENST00000428308.2_Missense_Mutation_p.D80N|PAPD4_ENST00000504233.1_Missense_Mutation_p.D80N	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	80					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	p.D80N(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GAGATTAAGCGATGAAAAAAA	0.343													7	88					0	0	0	0	A	78919085	G	A	78919085	3	1	350	1	0	0	0	0	1	0	0	0	11495	1058	37	1	248	1	PAPD4	5	78919085	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	14059911	78919085	101996175	26	66161											
YTHDC2	64848	broad.mit.edu	37	chr5	112929033	112929033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttggtgaacagttgctcCagttatgggaacgtcttccc	7	13	12	9	1	1	1	0	1	1	0	3	2	3	2	2	3	3	4	2	3	3	4			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:112929033C>A	ENST00000161863.4	+	29	4459	c.4246C>A	c.(4246-4248)Cag>Aag	p.Q1416K		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1416	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ACAGTTGCTCCAGTTATGGGA	0.363													8	49					3.09899e-07	3.43221e-07	1	0	A	112929033	C	A	112929033	3	1	350	1	0	0	0	0	1	0	0	0	17593	595	21	4	4360	4	YTHDC2	5	112929033	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	34009948	112929033	67986227	27	66162											
RAD50	10111	broad.mit.edu	37	chr5	131923334	131923334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccttggatagccgaaaGaagcaaatggagaaagataa	20	5	11	5	1	0	3	0	0	0	3	0	6	0	4	2	2	3	1	2	2	7	3			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:131923334G>T	ENST00000378823.3	+	6	1238	c.420G>T	c.(418-420)aaG>aaT	p.K140N	RAD50_ENST00000265335.6_Missense_Mutation_p.K279N|RAD50_ENST00000487596.1_3'UTR	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	279					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAGCCGAAAGAAGCAAATGG	0.299								Homologous recombination					11	64					0.010729	0.0111625	1	0	T	131923334	G	T	131923334	3	4	350	1	0	0	0	0	1	0	0	0	13066	933	33	2	859	2	RAD50	5	131923334	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	18994301	131923334	48991926	28	66163											
DDX46	9879	broad.mit.edu	37	chr5	134120127	134120127	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgtctggacgagatttgaTtggcattgccaaaacaggaa	14	10	11	6	1	1	2	0	1	1	1	1	5	1	4	1	3	2	1	1	3	4	3			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:134120127T>A	ENST00000452510.2	+	10	1396	c.1238T>A	c.(1237-1239)aTt>aAt	p.I413N	DDX46_ENST00000354283.4_Missense_Mutation_p.I413N|DDX46_ENST00000509178.1_3'UTR	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	413	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGAGATTTGATTGGCATTGCC	0.448													4	139					0	0	0	0	A	134120127	T	A	134120127	3	1	350	1	0	0	0	0	1	0	0	0	4396	1493	52	5	1276	5	DDX46	5	134120127	Missense_Mutation	SNP	T	TCGA-CV-A6JO-01B-11D-A34J-08	2196793	134120127	46795133	29	66164											
PSD2	84249	broad.mit.edu	37	chr5	139193838	139193838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctggtagtgcagaccCtctggccaacgggtgccagg	7	6	16	12	1	1	1	0	0	1	1	1	2	1	2	4	5	4	2	4	5	2	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:139193838C>T	ENST00000274710.3	+	4	1110	c.905C>T	c.(904-906)cCt>cTt	p.P302L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	302	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCAGACCCTCTGGCCAAC	0.642													17	86					0	0	0	0	T	139193838	C	T	139193838	3	4	350	1	0	0	0	0	1	0	0	0	12726	681	24	4	915	4	PSD2	5	139193838	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	5073711	139193838	41721422	30	66165											
SLIT3	6586	broad.mit.edu	37	chr5	168189662	168189662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgaggtccatgaagcactCgctgctgaacctgctgcggt	8	8	12	13	3	0	2	0	2	0	0	2	3	1	2	2	2	5	4	2	2	2	0			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:168189662C>T	ENST00000519560.1	-	15	1911	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	SLIT3_ENST00000404867.3_Missense_Mutation_p.E498K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E498K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	498	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGAAGCACTCGCTGCTGAAC	0.632													25	144					0	0	0	0	T	168189662	C	T	168189662	3	4	350	1	0	0	0	0	1	0	0	0	14829	893	31	1	3167	1	SLIT3	5	168189662	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	28995824	168189662	12725598	31	66166											
DSP	1832	broad.mit.edu	37	chr6	7586031	7586031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtcccgcagtgggtccCggagaggaagctttgacgcc	6	6	16	13	4	0	2	0	1	0	1	2	4	2	3	4	4	1	2	4	4	1	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:7586031C>T	ENST00000379802.3	+	24	8877	c.8536C>T	c.(8536-8538)Cgg>Tgg	p.R2846W	DSP_ENST00000418664.2_Missense_Mutation_p.R2247W	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2846	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		cAGTGGGTCCCGGAGAGGAAG	0.577													14	86					0	0	0	0	T	7586031	C	T	7586031	3	4	350	1	0	0	0	0	1	0	0	0	4817	643	23	1	8630	1	DSP	6	7586031	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08		7586031	163529036	32	66167											
NKAPL	222698	broad.mit.edu	37	chr6	28227135	28227135	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtagcaaccgcccagcGttgaggcgcggctcatgccc	6	7	13	15	4	2	1	1	1	1	0	2	1	2	1	3	2	4	4	3	2	2	2			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:28227135G>A	ENST00000343684.3	+	0	38					NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like											breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						ACCGCCCAGCGTTGAGGCGCG	0.662													6	26					0	0	0	0	A	28227135	G	A	28227135	1	1	350	1	0	0	0	0	0	0	0	0	10510	1160	40	1		1	NKAPL	6	28227135	Translation_Start_Site	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	20641104	28227135	142887932	33	66168											
PEX6	5190	broad.mit.edu	37	chr6	42946178	42946178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgcaccctagccaagtgCggctgtgaagtgttcgatga	9	9	12	11	2	0	2	0	2	0	0	1	3	0	2	3	1	3	3	3	1	3	2			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:42946178C>T	ENST00000304611.8	-	1	780	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PEX6_ENST00000244546.4_Silent_p.P237P	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	237					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TAGCCAAGTGCGGCTGTGAAG	0.647													4	76					0	0	0	0	T	42946178	C	T	42946178	2	4	350	1	0	0	0	0	0	0	0	1	11822	755	27	1		1	PEX6	6	42946178	Silent	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	14719043	42946178	128168889	34	66169											
SUPT3H	8464	broad.mit.edu	37	chr6	44971521	44971521	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgcattattgctgccacTcaatttgtcttcatgaagtc	8	16	7	10	1	3	1	2	1	1	0	5	1	3	1	1	0	2	3	1	0	3	5			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:44971521T>C	ENST00000371460.1	-	8	723	c.406A>G	c.(406-408)Agt>Ggt	p.S136G	SUPT3H_ENST00000371459.1_Missense_Mutation_p.S125G|SUPT3H_ENST00000371461.2_Missense_Mutation_p.S136G|SUPT3H_ENST00000306867.5_Missense_Mutation_p.S125G	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	207					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TTGCTGCCACTCAATTTGTCT	0.338													8	66					0	0	0	0	C	44971521	T	C	44971521	3	2	350	1	0	0	0	0	1	0	0	0	15487	1551	54	5	604	5	SUPT3H	6	44971521	Missense_Mutation	SNP	T	TCGA-CV-A6JO-01B-11D-A34J-08	2025343	44971521	126143546	35	66170											
COL19A1	1310	broad.mit.edu	37	chr6	70642746	70642746	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacatgttgtgaaatatcAgatactaaggtaagttaatt	17	13	8	3	0	1	2	1	1	0	1	1	3	1	2	0	1	2	3	0	1	7	7			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:70642746A>G	ENST00000322773.4	+	7	840	c.738A>G	c.(736-738)tcA>tcG	p.S246S		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	246					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTGAAATATCAGATACTAAGG	0.328													5	24					0	0	0	0	G	70642746	A	G	70642746	2	3	350	1	0	0	0	0	0	0	0	1	3706	175	7	5		5	COL19A1	6	70642746	Silent	SNP	A	TCGA-CV-A6JO-01B-11D-A34J-08	25671225	70642746	100472321	36	66171											
EEF1A1	1915	broad.mit.edu	37	chr6	74228912	74228914	+	In_Frame_Del	DEL	CAC	CAC	-																															ggagataccagcttcaaattCaccaacaccagcagcaacaa																										TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:74228912_74228914delCAC	ENST00000316292.9	-	3	1353_1355	c.362_364delGTG	c.(361-366)gaa>g	p.GE121del	EEF1A1_ENST00000331523.2_In_Frame_Del_p.GE121del|EEF1A1_ENST00000309268.6_In_Frame_Del_p.GE121del|EEF1A1_ENST00000491404.1_5'UTR	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	121						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCTTCAAATTCACCAACACCAGC	0.448											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	39	---	---	---	---					-	74228914	CAC	-	74228912	7	5	350	1	0	1	0	1	0	0	0	0	4959	835	29	0	1044	0	EEF1A1	6	74228912	In_Frame_Del	DEL	CAC	TCGA-CV-A6JO-01B-11D-A34J-08	3586166	74228912	96886155	37	66172											
FUT9	10690	broad.mit.edu	37	chr6	96652046	96652046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacatgcatgtttggcttgcGatcatgtgaaaaggcatcaa	12	11	10	8	1	2	1	2	1	0	0	2	2	2	1	0	2	2	4	0	2	3	2			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:96652046G>A	ENST00000302103.5	+	3	1341	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	339					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTTGGCTTGCGATCATGTGAA	0.323													7	71					0	0	0	0	A	96652046	G	A	96652046	3	1	350	1	0	0	0	0	1	0	0	0	6159	1058	37	1	1017	1	FUT9	6	96652046	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	22423134	96652046	74463021	38	66173											
MOS	4342	broad.mit.edu	37	chr8	57025799	57025799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcctttcaggagctccGgggcgcggtgggtgtatgtg	3	11	16	11	3	2	0	1	0	1	0	4	1	3	1	3	5	1	2	3	5	1	2			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr8:57025799G>A	ENST00000311923.1	-	1	742	c.743C>T	c.(742-744)cCg>cTg	p.P248L		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	248	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CAGGAGCTCCGGGGCGCGGTG	0.537													5	66					0	0	0	0	A	57025799	G	A	57025799	3	1	350	1	0	0	0	0	1	0	0	0	9782	1116	39	1	300	1	MOS	8	57025799	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08		57025799	89338223	39	66174											
COL22A1	169044	broad.mit.edu	37	chr8	139674288	139674288	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttacgtcccggccggctggGccctgggggccagggaatcc	4	6	16	15	3	0	0	0	0	0	0	2	1	2	1	5	6	1	1	5	6	2	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr8:139674288G>A	ENST00000303045.6	-	43	3671	c.3225C>T	c.(3223-3225)ggC>ggT	p.G1075G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G1055G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1075	Collagen-like 9.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCCGGCTGGGCCCTGGGGGC	0.547										HNSCC(7;0.00092)			4	86					0	0	0	0	A	139674288	G	A	139674288	2	1	350	1	0	0	0	0	0	0	0	1	3711	1190	42	4		4	COL22A1	8	139674288	Silent	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	82648489	139674288	6689734	40	66175											
ZNF483	158399	broad.mit.edu	37	chr9	114304560	114304560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaagtgtggaaaagcctttGgctatagcgcctcactcacc	10	10	10	11	1	2	0	2	0	0	0	2	1	2	1	3	2	2	2	3	2	5	4			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr9:114304560G>A	ENST00000309235.5	+	6	1503	c.1345G>A	c.(1345-1347)Ggc>Agc	p.G449S	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	449					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AAAAGCCTTTGGCTATAGCGC	0.388													8	65					0	0	0	0	A	114304560	G	A	114304560	3	1	350	1	0	0	0	0	1	0	0	0	18031	1348	47	4	1363	4	ZNF483	9	114304560	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08		114304560	26908871	41	66176											
AMBP	259	broad.mit.edu	37	chr9	116838907	116838907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggtcatgctgatctcCgcctctgtagcgccctctcc	3	12	10	16	2	4	1	1	1	3	0	6	1	4	1	4	1	3	3	4	1	1	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr9:116838907C>T	ENST00000265132.3	-	2	493	c.231G>A	c.(229-231)gcG>gcA	p.A77A		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	77					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGCTGATCTCCGCCTCTGTAG	0.612													5	50					0	0	0	0	T	116838907	C	T	116838907	2	4	350	1	0	0	0	0	0	0	0	1	564	639	23	1		1	AMBP	9	116838907	Silent	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	2534347	116838907	24374524	42	66177											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130656799	130656799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcgctaccttgttgcCgagaatggggacatagccgt	8	9	13	11	3	0	1	0	0	0	1	0	3	0	2	3	2	5	3	3	2	3	4			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr9:130656799C>T	ENST00000373146.1	-	4	468	c.289G>A	c.(289-291)Ggc>Agc	p.G97S	ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.G97S|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.G63S|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.G97S|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.G63S|ST6GALNAC6_ENST00000542456.1_Silent_p.S32S|ST6GALNAC6_ENST00000485320.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	97					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACCTTGTTGCCGAGAATGGGG	0.582													9	91					0	0	0	0	T	130656799	C	T	130656799	3	4	350	1	0	0	0	0	1	0	0	0	15318	652	23	1	728	1	ST6GALNAC6	9	130656799	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	13817892	130656799	10556632	43	66178											
SLC34A3	142680	broad.mit.edu	37	chr9	140126191	140126191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggcagccaggtcccccacCccactctggacgcggttgac	6	5	11	19	3	1	1	0	1	1	0	2	2	2	2	6	4	1	2	6	4	0	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr9:140126191C>T	ENST00000538474.1	+	2	261	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	SLC34A3_ENST00000361134.2_Missense_Mutation_p.P13S	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	13					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGTCCCCCACCCCACTCTGGA	0.647													8	93					0	0	0	0	T	140126191	C	T	140126191	3	4	350	1	0	0	0	0	1	0	0	0	14657	623	22	4	39	4	SLC34A3	9	140126191	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	9469392	140126191	1087240	44	66179											
ZNF33A	7581	broad.mit.edu	37	chr10	38344196	38344196	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcaaagatcacacacagggGagaaaccttttgaatgcaat	17	8	8	8	0	2	3	2	1	0	2	2	4	2	3	1	2	2	1	1	2	4	2			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr10:38344196G>T	ENST00000374618.3	+	5	1322	c.1144G>T	c.(1144-1146)Gag>Tag	p.E382*	ZNF33A_ENST00000458705.2_Nonsense_Mutation_p.E381*|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.E381*|ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.E388*	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	381						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACACACAGGGGAGAAACCTTT	0.428													22	100					2.37509e-13	2.68829e-13	1	0	T	38344196	G	T	38344196	4	4	350	1	0	0	0	0	0	1	0	0	17949	1175	41	2	1158	2	ZNF33A	10	38344196	Nonsense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08		38344196	97190551	45	66180											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648704	62648704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actctggaattttgatgaccGgtggaggggcttttggaggt	7	13	16	5	1	1	2	0	2	1	0	1	5	1	5	1	7	0	1	1	7	1	4			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr10:62648704G>A	ENST00000337910.5	-	6	1059	c.722C>T	c.(721-723)cCg>cTg	p.P241L	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.P241L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	241					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.P241L(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TTTGATGACCGGTGGAGGGGC	0.493													23	146					0	0	0	0	A	62648704	G	A	62648704	3	1	350	1	0	0	0	0	1	0	0	0	13416	1116	39	1	1392	1	RHOBTB1	10	62648704	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	24304508	62648704	72886043	46	66181											
JMJD1C	221037	broad.mit.edu	37	chr10	64966991	64966992	+	Frame_Shift_Ins	INS	-	-	A																															ttgtgcttttttaaatggatINSaaaatcagttgtgcctgaga																										TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr10:64966991_64966992insA	ENST00000399262.2	-	10	4655_4656	c.4437_4438insT	c.(4435-4440)tttccafs	p.P1480fs	JMJD1C_ENST00000542921.1_Frame_Shift_Ins_p.P1298fs|JMJD1C_ENST00000399251.1_Frame_Shift_Ins_p.P1261fs|JMJD1C_ENST00000402544.1_Frame_Shift_Ins_p.P1261fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1480					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTAAATGGATAAAATCAGTTG	0.416													12	84	---	---	---	---					A	64966992	-	A	64966991	7	5	350	1	0	1	1	0	0	0	0	0	8003	1406	49	0	3252	0	JMJD1C	10	64966991	Frame_Shift_Ins	INS	-	TCGA-CV-A6JO-01B-11D-A34J-08	2318287	64966991	70567756	47	66182											
TACC2	10579	broad.mit.edu	37	chr10	124001517	124001517	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccatcgctcagatgatagGtaggtgtcctgacctgcggg	8	9	14	10	2	1	3	1	2	0	1	3	4	2	3	3	3	1	2	3	3	2	2			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr10:124001517G>A	ENST00000369005.1	+	19	8732		c.e19+1		TACC2_ENST00000369000.1_Splice_Site|TACC2_ENST00000515273.1_Splice_Site|TACC2_ENST00000369001.1_Splice_Site|TACC2_ENST00000513429.1_Splice_Site|TACC2_ENST00000369004.3_Splice_Site|TACC2_ENST00000260733.3_Splice_Site|TACC2_ENST00000368999.1_Splice_Site|TACC2_ENST00000334433.3_Splice_Site|TACC2_ENST00000453444.2_Splice_Site|TACC2_ENST00000358010.1_Splice_Site|TACC2_ENST00000360561.3_Splice_Site|TACC2_ENST00000515603.1_Splice_Site	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2							microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGATGATAGGTAGGTGTCCT	0.507													12	110					0	0	0	0	A	124001517	G	A	124001517	5	1	350	1	0	0	0	0	0	0	1	0	15593	1275	44	4	8535	4	TACC2	10	124001517	Splice_Site	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	59034526	124001517	11533230	48	66183											
HRAS	3265	broad.mit.edu	37	chr11	534289	534289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactcttgcccacaccgcCggcgcccaccaccaccagct	7	4	7	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	2	7	1	0	1	rs104894229		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr11:534289C>T	ENST00000417302.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			14	34					0	0	0	0	T	534289	C	T	534289	3	4	350	1	0	0	0	0	1	0	0	0	7398	652	23	1	618	1	HRAS	11	534289	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08		534289	134472227	49	66184											
PYGM	5837	broad.mit.edu	37	chr11	64521397	64521397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgatctggaggtgccgcGgcagcagcgtctccaagagg	9	6	16	10	3	2	3	0	1	2	2	3	4	2	4	2	4	3	2	2	4	1	0			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr11:64521397G>T	ENST00000164139.3	-	10	1591	c.1193C>A	c.(1192-1194)cCg>cAg	p.P398Q	PYGM_ENST00000377432.3_Missense_Mutation_p.P310Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	398					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GAGGTGCCGCGGCAGCAGCGT	0.652													3	18					1	1	1	0	T	64521397	G	T	64521397	3	4	350	1	0	0	0	0	1	0	0	0	12944	1116	39	3	1379	3	PYGM	11	64521397	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	63987108	64521397	70485119	50	66185											
LRP5	4041	broad.mit.edu	37	chr11	68181289	68181289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagactagcggccggaaccGcaccctcatccagggccacc	10	3	10	18	3	1	1	1	0	0	1	2	2	2	2	6	3	2	1	6	3	3	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr11:68181289G>A	ENST00000294304.7	+	12	2742	c.2636G>A	c.(2635-2637)cGc>cAc	p.R879H		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	879	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCCGGAACCGCACCCTCATC	0.587													4	59					0	0	0	0	A	68181289	G	A	68181289	3	1	350	1	0	0	0	0	1	0	0	0	9024	1087	38	1	2682	1	LRP5	11	68181289	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	3659892	68181289	66825227	51	66186											
USP35	57558	broad.mit.edu	37	chr11	77916981	77916981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcgggtttctatcccCggctcatggccaagtcagac	7	9	12	13	2	3	1	2	0	1	1	4	1	4	1	3	4	1	3	3	4	2	2			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr11:77916981C>T	ENST00000529308.1	+	7	1552	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_5'UTR|USP35_ENST00000441408.2_Silent_p.P15P|USP35_ENST00000526425.1_Missense_Mutation_p.R162W	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	431					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TTTCTATCCCCGGCTCATGGC	0.562													27	261					0	0	0	0	T	77916981	C	T	77916981	3	4	350	1	0	0	0	0	1	0	0	0	17162	643	23	1	1313	1	USP35	11	77916981	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	9735692	77916981	57089535	52	66187											
NAV3	89795	broad.mit.edu	37	chr12	78362441	78362441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcacgcttcccctccatcGgaagccagccaggccaaaac	11	5	7	18	2	1	0	1	0	0	0	4	1	3	1	6	2	3	1	6	2	3	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr12:78362441G>A	ENST00000397909.2	+	5	803	c.630G>A	c.(628-630)tcG>tcA	p.S210S	NAV3_ENST00000228327.6_Silent_p.S210S|NAV3_ENST00000536525.2_Silent_p.S210S|NAV3_ENST00000266692.7_Silent_p.S210S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	210			S -> W (in dbSNP:rs34195711).			nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCCTCCATCGGAAGCCAGCC	0.458										HNSCC(70;0.22)			8	69					0	0	0	0	A	78362441	G	A	78362441	2	1	350	1	0	0	0	0	0	0	0	1	10255	1103	39	1		1	NAV3	12	78362441	Silent	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08		78362441	55489454	53	66188											
TRAFD1	10906	broad.mit.edu	37	chr12	112586051	112586051	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtggaggagagcatcatTatcccatgtgaattctgtgg	9	12	12	8	0	2	2	1	1	1	1	3	4	3	3	2	3	1	1	2	3	2	2			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr12:112586051T>C	ENST00000257604.5	+	8	1718	c.1101T>C	c.(1099-1101)atT>atC	p.I367I	TRAFD1_ENST00000412615.2_Silent_p.I367I	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	367					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						AGAGCATCATTATCCCATGTG	0.517													4	62					0	0	0	0	C	112586051	T	C	112586051	2	2	350	1	0	0	0	0	0	0	0	1	16542	1742	61	5		5	TRAFD1	12	112586051	Silent	SNP	T	TCGA-CV-A6JO-01B-11D-A34J-08	34223610	112586051	21265844	54	66189											
TUBA3C	7278	broad.mit.edu	37	chr13	19752452	19752452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtgtaatggcctctggcGtaattattggccgcatcttc	7	14	11	9	2	2	0	0	0	2	0	3	0	2	0	2	4	0	3	2	4	3	5	rs114178008		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr13:19752452G>A	ENST00000400113.3	-	3	413	c.309C>T	c.(307-309)taC>taT	p.Y103Y		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	103					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.Y103*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCCTCTGGCGTAATTATTGG	0.527													17	124					0	0	0	0	A	19752452	G	A	19752452	2	1	350	1	0	0	0	0	0	0	0	1	16842	1140	40	1		1	TUBA3C	13	19752452	Silent	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08		19752452	95417426	55	66190											
CARS2	79587	broad.mit.edu	37	chr13	111299479	111299479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgcttccctgacggagcCgcaggccagctgccccttca	6	7	10	18	3	1	1	1	1	0	0	3	2	2	2	5	2	3	3	5	2	0	2			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr13:111299479C>T	ENST00000257347.4	-	11	1225	c.1162G>A	c.(1162-1164)Ggc>Agc	p.G388S	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	388					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CTGACGGAGCCGCAGGCCAGC	0.667													3	7					0	0	0	0	T	111299479	C	T	111299479	3	4	350	1	0	0	0	0	1	0	0	0	2683	652	23	1	552	1	CARS2	13	111299479	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	91547027	111299479	3870399	56	66191											
ADAM20	8748	broad.mit.edu	37	chr14	70991263	70991263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcatgtggacaatgtatCtctgtcccccaaaccgcagg	9	9	8	15	1	2	0	1	0	1	0	4	1	3	1	4	2	1	2	4	2	3	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr14:70991263C>A	ENST00000256389.3	-	2	606	c.362G>T	c.(361-363)aGa>aTa	p.R121I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	71					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GACAATGTATCTCTGTCCCCC	0.532													14	67					0.000151284	0.000164024	1	0	A	70991263	C	A	70991263	3	1	350	1	0	0	0	0	1	0	0	0	242	913	32	2	1972	2	ADAM20	14	70991263	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08		70991263	36358277	57	66192											
CPSF2	53981	broad.mit.edu	37	chr14	92625620	92625620	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttggaacccttgccaccTcatgaggtaaaaaaagcatg	14	9	8	10	0	1	1	1	1	0	0	1	2	1	2	3	2	3	2	3	2	5	3			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr14:92625620T>A	ENST00000298875.4	+	14	2400	c.2115T>A	c.(2113-2115)ccT>ccA	p.P705P		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	705					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CCTTGCCACCTCATGAGGTAA	0.368													4	66					0	0	0	0	A	92625620	T	A	92625620	2	1	350	1	0	0	0	0	0	0	0	1	3855	1538	54	5		5	CPSF2	14	92625620	Silent	SNP	T	TCGA-CV-A6JO-01B-11D-A34J-08	21634357	92625620	14723920	58	66193											
OR4N4	283694	broad.mit.edu	37	chr15	22383025	22383025	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgatgtccgacaggtcAtcaagctggcttgcaccgac	8	10	11	12	2	3	1	2	1	1	0	4	3	4	1	2	2	2	3	2	2	1	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr15:22383025A>G	ENST00000328795.4	+	1	644	c.553A>G	c.(553-555)Atc>Gtc	p.I185V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCGACAGGTCATCAAGCTGGC	0.522													18	145					0	0	0	0	G	22383025	A	G	22383025	3	3	350	1	0	0	0	0	1	0	0	0	11149	217	8	5	555	5	OR4N4	15	22383025	Missense_Mutation	SNP	A	TCGA-CV-A6JO-01B-11D-A34J-08		22383025	80148367	59	66194											
GCHFR	2644	broad.mit.edu	37	chr15	41059435	41059435	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttgcagttatgaatactAcgtcgatgaccctccccgca	9	12	7	13	3	1	2	0	2	1	0	3	3	2	2	3	0	3	3	3	0	4	4			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr15:41059435A>C	ENST00000558467.1	+	2	314	c.92A>C	c.(91-93)tAc>tCc	p.Y31S	GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559932.1_Missense_Mutation_p.Y31S|GCHFR_ENST00000260447.4_Missense_Mutation_p.Y48S|GCHFR_ENST00000559445.1_Missense_Mutation_p.Y37S			P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	48					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TATGAATACTACGTCGATGAC	0.607													11	83					0	0	0	0	C	41059435	A	C	41059435	3	2	350	1	0	0	0	0	1	0	0	0	6341	391	14	5	153	5	GCHFR	15	41059435	Missense_Mutation	SNP	A	TCGA-CV-A6JO-01B-11D-A34J-08	18676410	41059435	61471957	60	66195											
MAPKBP1	23005	broad.mit.edu	37	chr15	42114547	42114547	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctatgggctacaggagggCagcccccagactccagacca	10	4	11	16	0	0	2	0	0	0	2	1	3	1	3	5	3	2	2	5	3	2	2			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr15:42114547C>A	ENST00000457542.2	+	26	3442	c.3156C>A	c.(3154-3156)ggC>ggA	p.G1052G	MAPKBP1_ENST00000260357.7_Silent_p.G891G|MAPKBP1_ENST00000221214.6_Silent_p.G935G|MAPKBP1_ENST00000456763.2_Silent_p.G1058G|MAPKBP1_ENST00000514566.1_Silent_p.G1052G	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1058										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TACAGGAGGGCAGCCCCCAGA	0.572													3	26					0.004672	0.00491037	1	0	A	42114547	C	A	42114547	2	1	350	1	0	0	0	0	0	0	0	1	9361	697	25	4		4	MAPKBP1	15	42114547	Silent	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	1055112	42114547	60416845	61	66196											
UBR1	197131	broad.mit.edu	37	chr15	43350570	43350570	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatagcaaagagttttttgTattccatctccataaaaaaa	16	13	4	8	0	1	1	0	0	1	1	3	1	2	1	3	0	1	3	3	0	7	7			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr15:43350570T>C	ENST00000290650.4	-	10	1229	c.1151A>G	c.(1150-1152)tAc>tGc	p.Y384C	UBR1_ENST00000382177.2_Missense_Mutation_p.Y384C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	384					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GAGTTTTTTGTATTCCATCTC	0.313													16	106					0	0	0	0	C	43350570	T	C	43350570	3	2	350	1	0	0	0	0	1	0	0	0	16997	1638	57	5	4250	5	UBR1	15	43350570	Missense_Mutation	SNP	T	TCGA-CV-A6JO-01B-11D-A34J-08	1236023	43350570	59180822	62	66197											
LIPC	3990	broad.mit.edu	37	chr15	58837961	58837961	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctggatgccgcgggacctTtgtttgagggaagtgccccc	5	9	16	11	2	0	1	0	1	0	0	0	4	0	4	4	4	2	2	4	4	1	2			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr15:58837961T>A	ENST00000414170.3	+	6	882	c.595T>A	c.(595-597)Ttg>Atg	p.L199M	LIPC_ENST00000433326.2_Missense_Mutation_p.L138M|LIPC_ENST00000356113.6_Missense_Mutation_p.L199M|LIPC_ENST00000299022.5_Missense_Mutation_p.L199M			P11150	LIPC_HUMAN	lipase, hepatic	199					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CGCGGGACCTTTGTTTGAGGG	0.517													5	56					0	0	0	0	A	58837961	T	A	58837961	3	1	350	1	0	0	0	0	1	0	0	0	8875	1838	64	5	613	5	LIPC	15	58837961	Missense_Mutation	SNP	T	TCGA-CV-A6JO-01B-11D-A34J-08	15487391	58837961	43693431	63	66198											
TNP2	7142	broad.mit.edu	37	chr16	11363090	11363090	+	Frame_Shift_Del	DEL	G	G	-																															ctatggagctgagtgtgggtGataggaaggctgtgagtctg																										TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr16:11363090delG	ENST00000312693.3	-	1	99	c.30delC	c.(28-30)atfs	p.I10fs	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	10					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GAGTGTGGGTGATAGGAAGGC	0.602													9	84	---	---	---	---					-	11363090	G	-	11363090	7	5	350	1	0	1	0	1	0	0	0	0	16428	1280	45	0	394	0	TNP2	16	11363090	Frame_Shift_Del	DEL	G	TCGA-CV-A6JO-01B-11D-A34J-08		11363090	78991663	64	66199											
ZNF629	23361	broad.mit.edu	37	chr16	30794848	30794848	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcggtagaaagcccggcgGcactcgccgcacttgtaggg	7	6	15	13	5	0	1	0	0	0	1	1	1	0	1	2	4	2	4	2	4	3	3			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr16:30794848G>A	ENST00000262525.4	-	3	1008	c.801C>T	c.(799-801)tgC>tgT	p.C267C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AAGCCCGGCGGCACTCGCCGC	0.637													4	91					0	0	0	0	A	30794848	G	A	30794848	2	1	350	1	0	0	0	0	0	0	0	1	18148	1195	42	4		4	ZNF629	16	30794848	Silent	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	19431758	30794848	59559905	65	66200											
FUS	2521	broad.mit.edu	37	chr16	31202080	31202080	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagcacctgtgagaatatgaActtctcttggaggaatgaat	13	12	10	6	0	1	3	0	3	1	1	2	6	1	5	1	2	2	1	1	2	6	4			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr16:31202080A>G	ENST00000254108.7	+	13	1415	c.1310A>G	c.(1309-1311)aAc>aGc	p.N437S	FUS_ENST00000380244.3_Missense_Mutation_p.N436S|FUS_ENST00000568685.1_Missense_Mutation_p.N438S|FUS_ENST00000474990.1_3'UTR	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	437	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GAGAATATGAACTTCTCTTGG	0.498			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								7	48					0	0	0	0	G	31202080	A	G	31202080	3	3	350	1	0	0	0	0	1	0	0	0	6148	43	2	5	1360	5	FUS	16	31202080	Missense_Mutation	SNP	A	TCGA-CV-A6JO-01B-11D-A34J-08	407232	31202080	59152673	66	66201											
BANP	54971	broad.mit.edu	37	chr16	88052251	88052251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaagaagcagctggacccGctcaccatctacggcatccg	10	5	12	14	3	2	1	1	0	1	1	3	3	3	3	3	3	3	4	3	3	3	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr16:88052251G>A	ENST00000393207.1	+	7	1070	c.849G>A	c.(847-849)ccG>ccA	p.P283P	BANP_ENST00000355022.4_Silent_p.P252P|BANP_ENST00000286122.7_Silent_p.P283P|BANP_ENST00000355163.5_Silent_p.P258P|BANP_ENST00000538234.1_Silent_p.P291P|BANP_ENST00000479780.2_Silent_p.P252P|BANP_ENST00000393208.2_Silent_p.P252P	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	283	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AGCTGGACCCGCTCACCATCT	0.647													3	5					0	0	0	0	A	88052251	G	A	88052251	2	1	350	1	0	0	0	0	0	0	0	1	1314	1074	38	1		1	BANP	16	88052251	Silent	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	56850171	88052251	2302502	67	66202											
MED24	9862	broad.mit.edu	37	chr17	38189381	38189381	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcaggttcatggtgccctcGagcaggatcacggcgtggac	7	8	15	11	3	3	0	3	0	0	0	4	3	3	2	1	5	2	2	1	5	0	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr17:38189381G>A	ENST00000394126.1	-	7	1243	c.825C>T	c.(823-825)ctC>ctT	p.L275L	MED24_ENST00000356271.3_Silent_p.L237L|MED24_ENST00000394127.2_Silent_p.L237L|MED24_ENST00000501516.3_Silent_p.L269L|MED24_ENST00000394128.2_Silent_p.L250L			O75448	MED24_HUMAN	mediator complex subunit 24	250					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGGTGCCCTCGAGCAGGATCA	0.632													8	58					0	0	0	0	A	38189381	G	A	38189381	2	1	350	1	0	0	0	0	0	0	0	1	9511	1045	37	1		1	MED24	17	38189381	Silent	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08		38189381	43005829	68	66203											
MTMR4	9110	broad.mit.edu	37	chr17	56581672	56581672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttaggacttaccaggaatgCttcattaaattcaaacaggc	14	11	7	9	0	2	0	2	0	0	0	2	2	2	2	1	3	3	1	1	3	6	5			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr17:56581672C>T	ENST00000323456.5	-	13	1601	c.1477G>A	c.(1477-1479)Gca>Aca	p.A493T	MTMR4_ENST00000579925.1_Missense_Mutation_p.A493T	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	493	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCAGGAATGCTTCATTAAAT	0.507													17	109					0	0	0	0	T	56581672	C	T	56581672	3	4	350	1	0	0	0	0	1	0	0	0	10016	797	28	4	2138	4	MTMR4	17	56581672	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	18392291	56581672	24613538	69	66204											
USP32	84669	broad.mit.edu	37	chr17	58292126	58292126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaggtgcattcggagaaGgtacatttcctatggttaca	12	13	10	6	1	0	1	0	0	0	1	2	2	1	1	1	4	3	3	1	4	6	6			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr17:58292126G>T	ENST00000300896.4	-	17	2071	c.1877C>A	c.(1876-1878)cCt>cAt	p.P626H	USP32_ENST00000592339.1_Missense_Mutation_p.P296H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	626					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATTCGGAGAAGGTACATTTCC	0.403													8	41					4.68919e-08	5.24985e-08	1	0	T	58292126	G	T	58292126	3	4	350	1	0	0	0	0	1	0	0	0	17159	1000	35	4	3009	4	USP32	17	58292126	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	1710454	58292126	22903084	70	66205											
ENPP7	339221	broad.mit.edu	37	chr17	77705020	77705020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctcctggtgtccttcgacgGcttccgctggaactacgacc	5	10	11	15	4	0	0	0	0	0	0	4	3	3	1	4	3	2	3	4	3	2	3			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr17:77705020G>A	ENST00000328313.5	+	1	340	c.119G>A	c.(118-120)gGc>gAc	p.G40D		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	40					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCCTTCGACGGCTTCCGCTGG	0.652													4	24					0	0	0	0	A	77705020	G	A	77705020	3	1	350	1	0	0	0	0	1	0	0	0	5173	1203	42	4	121	4	ENPP7	17	77705020	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	19412894	77705020	3490190	71	66206											
C18orf56	494514	broad.mit.edu	37	chr18	658147	658147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgactggcgcgggcaacaCacacagcagcgacagccggg	10	2	15	14	5	0	1	0	1	0	0	0	2	0	1	1	3	4	2	1	3	1	0			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr18:658147C>A	ENST00000323813.3	-	1	193	c.101G>T	c.(100-102)tGt>tTt	p.C34F	C18orf56_ENST00000585033.1_Missense_Mutation_p.C34F|TYMS_ENST00000323250.5_Intron|TYMS_ENST00000323224.7_Intron|TYMS_ENST00000323274.10_Intron	NM_001012716.2	NP_001012734.2	Q8TAI1	CR056_HUMAN	chromosome 18 open reading frame 56	34							protein binding										GCGGGCAACACACACAGCAGC	0.692													10	3					0.0692343	0.0699131	1	0	A	658147	C	A	658147	3	1	350	1	0	0	0	0	1	0	0	0	1923	478	17	4	274	4	C18orf56	18	658147	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08		658147	77419101	72	66207											
NOL4	8715	broad.mit.edu	37	chr18	31537316	31537316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccacttcttttcatccGcctgcaggacttgaggtaag	11	11	8	11	1	2	1	1	1	1	0	3	2	3	2	3	2	2	2	3	2	3	5			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr18:31537316G>A	ENST00000261592.5	-	8	1699	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W	NOL4_ENST00000535384.1_Missense_Mutation_p.R183W|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.R394W|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000589544.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	468						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTTTTCATCCGCCTGCAGGAC	0.418													6	68					0	0	0	0	A	31537316	G	A	31537316	3	1	350	1	0	0	0	0	1	0	0	0	10594	1086	38	1	530	1	NOL4	18	31537316	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	30879169	31537316	46539932	73	66208											
FHOD3	80206	broad.mit.edu	37	chr18	34081902	34081902	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttatttcagaaaaactAtacaactccagcggacgaga	15	11	6	9	2	2	2	1	0	1	2	3	4	3	3	1	1	4	0	1	1	6	6			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr18:34081902A>G	ENST00000257209.4	+	4	467	c.345A>G	c.(343-345)ctA>ctG	p.L115L	FHOD3_ENST00000445677.1_Silent_p.L115L|FHOD3_ENST00000590592.1_Silent_p.L115L|FHOD3_ENST00000359247.4_Silent_p.L115L	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	115	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CAGAAAAACTATACAACTCCA	0.323													3	39					0	0	0	0	G	34081902	A	G	34081902	2	3	350	1	0	0	0	0	0	0	0	1	5928	436	16	5		5	FHOD3	18	34081902	Silent	SNP	A	TCGA-CV-A6JO-01B-11D-A34J-08	2544586	34081902	43995346	74	66209											
NFATC1	4772	broad.mit.edu	37	chr18	77246756	77246756	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccctgcagcccagcGtgcccgcccgccacgggccg	4	3	13	21	5	0	0	0	0	0	0	0	0	0	0	6	1	6	2	6	1	0	0			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr18:77246756G>A	ENST00000329101.4	+	9	2618	c.2562G>A	c.(2560-2562)gcG>gcA	p.A854A	NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000427363.2_Silent_p.A867A|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Silent_p.A395A	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	867	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCAGCCCAGCGTGCCCGCCCG	0.741													6	37					0	0	0	0	A	77246756	G	A	77246756	2	1	350	1	0	0	0	0	0	0	0	1	10431	1132	40	1		1	NFATC1	18	77246756	Silent	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	43164854	77246756	830492	75	66210											
XAB2	56949	broad.mit.edu	37	chr19	7688059	7688059	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaacagggtgctcacatcGtccagctgtccgttgtcctc	6	10	10	15	3	1	0	1	0	0	0	6	0	4	0	3	1	3	4	3	1	1	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr19:7688059G>A	ENST00000358368.4	-	9	1273	c.1236C>T	c.(1234-1236)gaC>gaT	p.D412D	XAB2_ENST00000534844.1_Silent_p.D409D	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	412					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TGCTCACATCGTCCAGCTGTC	0.527								Direct reversal of damage;Nucleotide excision repair (NER)					4	71					0	0	0	0	A	7688059	G	A	7688059	2	1	350	1	0	0	0	0	0	0	0	1	17514	1136	40	1		1	XAB2	19	7688059	Silent	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08		7688059	51440924	76	66211											
ATG4D	84971	broad.mit.edu	37	chr19	10663588	10663588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcctcctcagccacagagCggtaccccatgttcaccctg	7	8	8	18	1	2	1	2	0	0	1	4	1	4	1	6	1	3	3	6	1	1	2			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr19:10663588C>T	ENST00000309469.4	+	10	1443	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	ATG4D_ENST00000540862.1_Missense_Mutation_p.R91W	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	424					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGCCACAGAGCGGTACCCCAT	0.622													10	58					0	0	0	0	T	10663588	C	T	10663588	3	4	350	1	0	0	0	0	1	0	0	0	1103	759	27	1	1308	1	ATG4D	19	10663588	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	2975529	10663588	48465395	77	66212											
ACP5	54	broad.mit.edu	37	chr19	11687262	11687262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcgggccagcttcacGtctcggggcctctcaggctg	3	10	15	13	3	3	0	2	0	2	0	5	0	3	0	2	4	2	2	2	4	0	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr19:11687262G>A	ENST00000592828.1	-	6	933	c.531C>T	c.(529-531)gaC>gaT	p.D177D	ACP5_ENST00000590420.1_Intron|ACP5_ENST00000412435.2_Silent_p.D177D|ACP5_ENST00000218758.5_Silent_p.D177D|ACP5_ENST00000433365.2_Silent_p.D177D	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	177				DVKL -> LT (in Ref. 1; AAA76849).	water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CCAGCTTCACGTCTCGGGGCC	0.597													9	41					0	0	0	0	A	11687262	G	A	11687262	2	1	350	1	0	0	0	0	0	0	0	1	164	1136	40	1		1	ACP5	19	11687262	Silent	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	1023674	11687262	47441721	78	66213											
ZNF681	148213	broad.mit.edu	37	chr19	23928041	23928041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattctcatgttcacattttCcatatcttcttggtgtcact	8	19	4	10	0	5	0	3	0	3	0	7	0	6	0	1	1	0	1	1	1	2	7			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr19:23928041C>A	ENST00000402377.3	-	4	452	c.311G>T	c.(310-312)gGa>gTa	p.G104V	ZNF681_ENST00000395385.3_Missense_Mutation_p.G35V	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTCACATTTTCCATATCTTCT	0.338													6	36					2.0095e-06	2.2019e-06	1	0	A	23928041	C	A	23928041	3	1	350	1	0	0	0	0	1	0	0	0	18183	855	30	2	1630	2	ZNF681	19	23928041	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	12240779	23928041	35200942	79	66214											
ITCH	83737	broad.mit.edu	37	chr20	33033102	33033103	+	Frame_Shift_Ins	INS	-	-	G																															ctgatttagctgggaacggcINSgggttgacaacatgggacgt																										TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr20:33033102_33033103insG	ENST00000374864.4	+	11	1189_1190	c.976_977insG	c.(976-978)ggtfs	p.G326fs	ITCH_ENST00000262650.6_Frame_Shift_Ins_p.G367fs|ITCH_ENST00000535650.1_Frame_Shift_Ins_p.G216fs	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	367	WW 1.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CTGGGAACGGCGGGTTGACAAC	0.371													10	83	---	---	---	---					G	33033103	-	G	33033102	7	5	350	1	0	1	1	0	0	0	0	0	7921	759	27	0	1010	0	ITCH	20	33033102	Frame_Shift_Ins	INS	-	TCGA-CV-A6JO-01B-11D-A34J-08		33033102	29992418	80	66215											
JPH2	57158	broad.mit.edu	37	chr20	42788430	42788430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctcctcgcggtggccgtCgggcagcgtggtgcagccat	3	7	16	15	5	0	0	0	0	0	0	3	0	1	0	4	4	3	2	4	4	0	0			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr20:42788430C>T	ENST00000372980.3	-	2	1869	c.997G>A	c.(997-999)Gac>Aac	p.D333N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	333					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGTGGCCGTCGGGCAGCGTG	0.662													10	28					0	0	0	0	T	42788430	C	T	42788430	3	4	350	1	0	0	0	0	1	0	0	0	8014	884	31	1	1109	1	JPH2	20	42788430	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	9755328	42788430	20237090	81	66216											
KCNG1	3755	broad.mit.edu	37	chr20	49626747	49626747	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcggccgcagccgctgCgcccggcggtagaacgcgcc	4	4	15	18	8	0	1	0	0	0	1	1	1	1	1	5	3	4	3	5	3	2	1			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr20:49626747C>T	ENST00000371571.4	-	2	414	c.129G>A	c.(127-129)gcG>gcA	p.A43A	KCNG1_ENST00000396017.3_Silent_p.A43A	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	43						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCAGCCGCTGCGCCCGGCGGT	0.697													5	27					0	0	0	0	T	49626747	C	T	49626747	2	4	350	1	0	0	0	0	0	0	0	1	8080	755	27	1		1	KCNG1	20	49626747	Silent	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	6838317	49626747	13398773	82	66217											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31691743	31691743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtccagagcaagatggaCgacacgtgctgaacacatgg	14	5	12	10	2	0	3	0	1	0	2	1	5	1	4	1	2	3	2	1	2	2	0	rs146155445		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr21:31691743C>T	ENST00000360542.3	-	1	864	c.611G>A	c.(610-612)cGt>cAt	p.R204H		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	204						intermediate filament		p.R204H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GCAAGATGGACGACACGTGCT	0.488													9	109					0	0	0	0	T	31691743	C	T	31691743	3	4	350	1	0	0	0	0	1	0	0	0	8596	536	19	1	25	1	KRTAP26-1	21	31691743	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08		31691743	16438152	83	66218											
DSCAM	1826	broad.mit.edu	37	chr21	41457657	41457657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgctaaagatgctcctcCgcccatcaatcgttactaga	10	11	7	13	3	1	2	1	0	0	2	4	2	3	2	3	0	3	4	3	0	5	4			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr21:41457657C>T	ENST00000400454.1	-	23	4481	c.4004G>A	c.(4003-4005)cGg>cAg	p.R1335Q		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1335	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATGCTCCTCCGCCCATCAAT	0.458													8	63					0	0	0	0	T	41457657	C	T	41457657	3	4	350	1	0	0	0	0	1	0	0	0	4804	652	23	1	2078	1	DSCAM	21	41457657	Missense_Mutation	SNP	C	TCGA-CV-A6JO-01B-11D-A34J-08	9765914	41457657	6672238	84	66219											
RNF185	91445	broad.mit.edu	37	chr22	31597555	31597555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attggggcatttccctttggGatatttgccacagcatttaa	9	15	9	8	0	0	0	0	0	0	0	1	1	1	1	2	3	2	2	2	3	2	7			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr22:31597555G>A	ENST00000326132.5	+	6	594	c.435G>A	c.(433-435)ggG>ggA	p.G145G	RNF185_ENST00000426256.2_Silent_p.G83G|RNF185_ENST00000266252.7_Silent_p.G89G	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	145						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TTCCCTTTGGGATATTTGCCA	0.418													4	161					0	0	0	0	A	31597555	G	A	31597555	2	1	350	1	0	0	0	0	0	0	0	1	13553	1161	41	2		2	RNF185	22	31597555	Silent	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08		31597555	19707011	85	66220											
SHROOM4	57477	broad.mit.edu	37	chrX	50377685	50377685	+	Missense_Mutation	SNP	G	G	A																															ggtcatgggttcctcctgtaGgggggcatggacttttcttc																										TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chrX:50377685G>A	ENST00000376020.2	-	4	1413	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L	SHROOM4_ENST00000460112.3_Missense_Mutation_p.P347L|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P463L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	463					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCCTCCTGTAGGGGGGCATGG	0.552													21	50					0	0	0	0	A	50377685	G	A	50377685	3	1	350	1	0	0	0	0	1	0	0	0	14384	1000	35	4	3117	4	SHROOM4	23	50377685	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08		50377685	104892875	86	66221	819	2									
SHROOM4	57477	broad.mit.edu	37	chrX	50377686	50377686	+	Missense_Mutation	SNP	G	G	T																															gtcatgggttcctcctgtagGggggcatggacttttcttcc																								rs147607307	byFrequency	TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chrX:50377686G>T	ENST00000376020.2	-	4	1412	c.1387C>A	c.(1387-1389)Cct>Act	p.P463T	SHROOM4_ENST00000460112.3_Missense_Mutation_p.P347T|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P463T	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	463					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCTCCTGTAGGGGGGCATGGA	0.557													19	50					8.81451e-21	1.00877e-20	1	0	T	50377686	G	T	50377686	3	4	350	1	0	0	0	0	1	0	0	0	14384	1232	43	4	3118	4	SHROOM4	23	50377686	Missense_Mutation	SNP	G	TCGA-CV-A6JO-01B-11D-A34J-08	1	50377686	104892874	87	66222	819	2									
FCN3	8547	broad.mit.edu	37	chr1	27699998	27699998	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttcctggcaccggagcagGttcactggatctcctgcccc	5	9	10	17	1	2	0	1	0	1	0	4	2	3	2	6	4	2	3	6	4	0	2			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr1:27699998G>A	ENST00000270879.4	-	4	251	c.246C>T	c.(244-246)aaC>aaT	p.N82N	FCN3_ENST00000354982.2_Intron	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	82					complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCGGAGCAGGTTCACTGGAT	0.607													9	30					0	0	0	0	A	27699998	G	A	27699998	2	1	351	1	0	0	0	0	0	0	0	1	5838	1252	44	4		4	FCN3	1	27699998	Silent	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08		27699998	221550623	1	66223											
SLC6A9	6536	broad.mit.edu	37	chr1	44477352	44477352	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagggagtggctccagaaaAgggtggcaggaagaaggatc	14	4	18	5	0	0	3	0	0	0	3	2	6	1	6	1	6	0	2	1	6	4	0			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr1:44477352A>C	ENST00000360584.2	-	2	321	c.130T>G	c.(130-132)Ttt>Gtt	p.F44V	SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Intron|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000492434.2_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	44						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCTCCAGAAAAGGGTGGCAGG	0.592													25	70					0	0	0	0	C	44477352	A	C	44477352	3	2	351	1	0	0	0	0	1	0	0	0	14779	72	3	5	2042	5	SLC6A9	1	44477352	Missense_Mutation	SNP	A	TCGA-CV-A6JT-01A-11D-A31L-08	16777354	44477352	204773269	2	66224											
DNAJC6	9829	broad.mit.edu	37	chr1	65858360	65858360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taacagcttctctccgccagCggctcctcccaccaattctg	7	10	6	18	2	2	0	0	0	2	0	6	0	5	0	5	1	3	2	5	1	2	3	rs141779215	byFrequency	TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr1:65858360C>T	ENST00000395325.3	+	12	1701	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	DNAJC6_ENST00000263441.7_Missense_Mutation_p.A502V|DNAJC6_ENST00000371069.4_Missense_Mutation_p.A572V	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	515	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCTCCGCCAGCGGCTCCTCCC	0.582													3	36					0	0	0	0	T	65858360	C	T	65858360	3	4	351	1	0	0	0	0	1	0	0	0	4689	768	27	1	1590	1	DNAJC6	1	65858360	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	21381008	65858360	183392261	3	66225											
YY1AP1	55249	broad.mit.edu	37	chr1	155629623	155629623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgataggcactgttctctGacaatccttcttggcactgt	8	13	9	11	1	2	1	0	1	2	0	4	2	3	1	1	2	1	3	1	2	2	4			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr1:155629623G>A	ENST00000368340.5	-	10	2540	c.2432C>T	c.(2431-2433)tCa>tTa	p.S811L	YY1AP1_ENST00000535662.1_Missense_Mutation_p.S539L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.S682L|YY1AP1_ENST00000404643.1_Missense_Mutation_p.S673L|YY1AP1_ENST00000295566.4_Missense_Mutation_p.S739L|YY1AP1_ENST00000347088.5_Missense_Mutation_p.S693L|YY1AP1_ENST00000355499.4_Missense_Mutation_p.S693L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.S693L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.S662L|YY1AP1_ENST00000311573.5_Missense_Mutation_p.S662L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.S831L|YY1AP1_ENST00000359205.5_Missense_Mutation_p.S682L|MSTO1_ENST00000452804.2_Intron	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACTGTTCTCTGACAATCCTTC	0.537													25	78					0	0	0	0	A	155629623	G	A	155629623	3	1	351	1	0	0	0	0	1	0	0	0	17604	1294	45	2	178	2	YY1AP1	1	155629623	Missense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	89771263	155629623	93620998	4	66226											
WDR35	57539	broad.mit.edu	37	chr2	20141595	20141595	+	Frame_Shift_Del	DEL	G	G	-																															atatatccagaggtctgaatGggttcctttaaagacaaaaa																										TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:20141595delG	ENST00000345530.3	-	18	1999	c.1884delC	c.(1882-1884)ccfs	p.P628fs	WDR35_ENST00000281405.4_Frame_Shift_Del_p.P617fs|WDR35_ENST00000416055.2_Frame_Shift_Del_p.P193fs	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	628										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTCTGAATGGGTTCCTTTA	0.259													2	4	---	---	---	---					-	20141595	G	-	20141595	7	5	351	1	0	1	0	1	0	0	0	0	17385	1335	47	0	1705	0	WDR35	2	20141595	Frame_Shift_Del	DEL	G	TCGA-CV-A6JT-01A-11D-A31L-08		20141595	223057778	5	66227											
SPTBN1	6711	broad.mit.edu	37	chr2	54856171	54856171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgagcgcagggcccgtCtggaagagtcccgccgcctc	5	5	15	16	5	1	2	0	1	1	1	3	3	2	3	4	3	1	2	4	3	1	0			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:54856171C>A	ENST00000333896.5	+	13	2246	c.1861C>A	c.(1861-1863)Ctg>Atg	p.L621M	SPTBN1_ENST00000356805.4_Missense_Mutation_p.L634M	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	634					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGGGCCCGTCTGGAAGAGTC	0.597													53	110					1.13709e-37	1.21497e-37	1	0	A	54856171	C	A	54856171	3	1	351	1	0	0	0	0	1	0	0	0	15209	912	32	2	2063	2	SPTBN1	2	54856171	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	34714576	54856171	188343202	6	66228											
DYSF	8291	broad.mit.edu	37	chr2	71795468	71795468	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgtgtgtccggagaagaCgtgagtcgtgggcagggagg	7	8	20	6	4	0	3	0	1	0	2	3	5	1	4	1	4	0	2	1	4	1	1			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:71795468C>T	ENST00000258104.3	+	26	3087	c.2810_splice	c.e26+1	p.T937_splice	DYSF_ENST00000429174.2_Splice_Site_p.T937_splice|DYSF_ENST00000409651.1_Splice_Site_p.T969_splice|DYSF_ENST00000413539.2_Splice_Site_p.T968_splice|DYSF_ENST00000410020.3_Splice_Site_p.T955_splice|DYSF_ENST00000409762.1_Splice_Site_p.T954_splice|DYSF_ENST00000409582.3_Splice_Site_p.T954_splice|DYSF_ENST00000409366.1_Splice_Site_p.T938_splice|DYSF_ENST00000410041.1_Splice_Site_p.T955_splice|DYSF_ENST00000394120.2_Splice_Site_p.T938_splice|DYSF_ENST00000409744.1_Splice_Site_p.T924_splice	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	937						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGGAGAAGACGTGAGTCGTG	0.632													78	290					0	0	0	0	T	71795468	C	T	71795468	5	4	351	1	0	0	0	0	0	0	1	0	4895	550	19	1	3104	1	DYSF	2	71795468	Splice_Site	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	16939297	71795468	171403905	7	66229											
INPP4A	3631	broad.mit.edu	37	chr2	99156097	99156097	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctctccctgcacgtgccCcggcagttcgtgaagctcct	4	10	11	16	3	1	1	0	1	1	0	4	1	2	1	4	1	4	5	4	1	1	1			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:99156097C>A	ENST00000074304.5	+	10	1170	c.777C>A	c.(775-777)ccC>ccA	p.P259P	INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000523221.1_Silent_p.P259P|INPP4A_ENST00000409851.3_Silent_p.P259P|INPP4A_ENST00000545415.1_Silent_p.P259P|INPP4A_ENST00000409540.3_Silent_p.P259P|INPP4A_ENST00000409016.3_Silent_p.P259P	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	259					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGCACGTGCCCCGGCAGTTCG	0.567													11	42					1.58986e-06	1.61051e-06	1	0	A	99156097	C	A	99156097	2	1	351	1	0	0	0	0	0	0	0	1	7805	610	22	4		4	INPP4A	2	99156097	Silent	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	27360629	99156097	144043276	8	66230											
TTN	7273	broad.mit.edu	37	chr2	179588160	179588160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaacctttcacaaagagacGggtagtgcaagatgcttggc	13	8	11	9	1	1	2	1	0	0	2	1	3	1	2	1	2	3	3	1	2	4	3			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:179588160G>A	ENST00000589042.1	-	74	21891	c.21667C>T	c.(21667-21669)Cgt>Tgt	p.R7223C	TTN_ENST00000342992.6_Missense_Mutation_p.R5979C|TTN_ENST00000591111.1_Missense_Mutation_p.R6906C|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6906	Ig-like 54.						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)			ACAAAGAGACGGGTAGTGCAA	0.413													8	23					0	0	0	0	A	179588160	G	A	179588160	3	1	351	1	0	0	0	0	1	0	0	0	16831	1116	39	1	83018	1	TTN	2	179588160	Missense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	80432063	179588160	63611213	9	66231											
CCDC150	284992	broad.mit.edu	37	chr2	197597245	197597245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagaaaacagaatcttaggCccatgcccaagaagtatcat	17	7	8	9	0	2	3	1	0	1	3	2	4	2	3	2	1	2	1	2	1	7	2			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:197597245C>T	ENST00000389175.4	+	28	3400	c.3265C>T	c.(3265-3267)Ccc>Tcc	p.P1089S	CCDC150_ENST00000272831.7_Missense_Mutation_p.P736S|CCDC150_ENST00000409270.1_Missense_Mutation_p.P576S	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1089										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAATCTTAGGCCCATGCCCAA	0.443													31	119					0	0	0	0	T	197597245	C	T	197597245	3	4	351	1	0	0	0	0	1	0	0	0	2810	739	26	4	3375	4	CCDC150	2	197597245	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	18009085	197597245	45602128	10	66232											
CYP8B1	1582	broad.mit.edu	37	chr3	42916010	42916010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagatggaaacgcccgaaccCcagggcatggtgtagtggtg	10	6	15	10	2	0	1	0	0	0	1	0	3	0	2	3	4	2	2	3	4	3	1			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr3:42916010C>G	ENST00000316161.4	-	1	1623	c.1299G>C	c.(1297-1299)tgG>tgC	p.W433C	ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.W433C	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	433					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)		CGCCCGAACCCCAGGGCATGG	0.522													33	62					0	0	0	0	G	42916010	C	G	42916010	3	3	351	1	0	0	0	0	1	0	0	0	4230	624	22	4	210	4	CYP8B1	3	42916010	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08		42916010	155106420	11	66233											
CBLB	868	broad.mit.edu	37	chr3	105572430	105572430	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatataagtcgtaaatgctGatatgtatcaggcaaaatat	17	12	7	5	1	1	1	1	1	0	0	2	1	1	1	0	1	1	4	0	1	10	6			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr3:105572430G>A	ENST00000264122.4	-	3	568	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	CBLB_ENST00000405772.1_Nonsense_Mutation_p.Q83*|CBLB_ENST00000403724.1_Nonsense_Mutation_p.Q83*|CBLB_ENST00000394027.3_Nonsense_Mutation_p.Q105*|CBLB_ENST00000545639.1_Nonsense_Mutation_p.Q105*	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	83	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CGTAAATGCTGATATGTATCA	0.318			Mis S		AML								18	59					0	0	0	0	A	105572430	G	A	105572430	4	1	351	1	0	0	0	0	0	1	0	0	2726	1299	45	2	2769	2	CBLB	3	105572430	Nonsense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	62656420	105572430	92450000	12	66234											
THAP9	79725	broad.mit.edu	37	chr4	83839311	83839311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagatacaaatttcaagAtgaagtttttctaagcaaag	17	11	7	6	0	2	3	1	1	1	2	2	4	2	3	1	0	2	2	1	0	6	5	rs148766490		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr4:83839311A>G	ENST00000302236.5	+	5	1997	c.1946A>G	c.(1945-1947)gAt>gGt	p.D649G	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	649							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AAATTTCAAGATGAAGTTTTT	0.398													21	56					0	0	0	0	G	83839311	A	G	83839311	3	3	351	1	0	0	0	0	1	0	0	0	15945	333	12	5	1964	5	THAP9	4	83839311	Missense_Mutation	SNP	A	TCGA-CV-A6JT-01A-11D-A31L-08		83839311	107314965	13	66235											
TET2	54790	broad.mit.edu	37	chr4	106156747	106156747	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgagacaaggagcaaacaCgagatcttgtgcccccaaca	14	5	10	12	2	1	2	0	0	1	2	2	5	1	3	2	1	4	1	2	1	3	1			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr4:106156747C>T	ENST00000513237.1	+	3	2508	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	TET2_ENST00000305737.2_Nonsense_Mutation_p.R550*|TET2_ENST00000380013.4_Nonsense_Mutation_p.R550*|TET2_ENST00000394764.1_Nonsense_Mutation_p.R550*|TET2_ENST00000413648.2_Nonsense_Mutation_p.R550*|TET2_ENST00000545826.1_Nonsense_Mutation_p.R550*|TET2_ENST00000540549.1_Nonsense_Mutation_p.R550*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	550					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R550*(20)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGAGCAAACACGAGATCTTGT	0.468			"Mis N, F"		MDS								14	64					0	0	0	0	T	106156747	C	T	106156747	4	4	351	1	0	0	0	0	0	1	0	0	15864	528	19	1	1650	1	TET2	4	106156747	Nonsense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	22317436	106156747	84997529	14	66236											
SPATA5	166378	broad.mit.edu	37	chr4	123844425	123844425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcagacttcgcggcaacctCcgggactctgacggtgacca	9	7	11	14	4	2	3	1	2	1	1	4	4	3	4	3	3	1	1	3	3	1	1			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr4:123844425C>T	ENST00000274008.3	+	1	197	c.128C>T	c.(127-129)tCc>tTc	p.S43F	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	43					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GCGGCAACCTCCGGGACTCTG	0.582													37	147					0	0	0	0	T	123844425	C	T	123844425	3	4	351	1	0	0	0	0	1	0	0	0	15101	855	30	2	130	2	SPATA5	4	123844425	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	17687678	123844425	67309851	15	66237											
GPM6A	2823	broad.mit.edu	37	chr4	176733372	176733372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtccctcttccatattctCttccatggctacctttcttc	4	18	3	16	0	3	0	0	0	3	0	8	0	6	0	4	1	1	1	4	1	2	7			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr4:176733372C>T	ENST00000280187.7	-	2	52	c.7G>A	c.(7-9)Gag>Aag	p.E3K	GPM6A_ENST00000506894.1_Intron|GPM6A_ENST00000393658.2_Missense_Mutation_p.E3K	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	3						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TCCATATTCTCTTCCATGGCT	0.333													29	135					0	0	0	0	T	176733372	C	T	176733372	3	4	351	1	0	0	0	0	1	0	0	0	6664	922	32	2	857	2	GPM6A	4	176733372	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	52888947	176733372	14420904	16	66238											
TAF7	6879	broad.mit.edu	37	chr5	140698574	140698574	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agttctttttacttctctagGagtgattctagctcctcttg	6	19	7	9	0	4	1	0	1	4	0	6	2	5	2	1	1	2	2	1	1	3	9			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr5:140698574G>C	ENST00000313368.5	-	1	1756	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	346					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTCTCTAGGAGTGATTCTA	0.398													10	6					0	0	0	0	C	140698574	G	C	140698574	2	2	351	1	0	0	0	0	0	0	0	1	15623	1161	41	2		2	TAF7	5	140698574	Silent	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08		140698574	40216686	17	66239											
SUPT3H	8464	broad.mit.edu	37	chr6	45073695	45073695	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtaccacatcttctacCaaaactgctgtttcatgaag	11	13	7	10	0	3	1	1	1	2	0	3	1	3	1	2	0	4	3	2	0	5	4			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:45073695C>A	ENST00000371460.1	-	5	500	c.183G>T	c.(181-183)ttG>ttT	p.L61F	SUPT3H_ENST00000371459.1_Missense_Mutation_p.L50F|SUPT3H_ENST00000371461.2_Missense_Mutation_p.L61F|SUPT3H_ENST00000306867.5_Missense_Mutation_p.L50F	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	132					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CATCTTCTACCAAAACTGCTG	0.333													12	63					5.50884e-06	5.50884e-06	1	0	A	45073695	C	A	45073695	3	1	351	1	0	0	0	0	1	0	0	0	15487	593	21	4	839	4	SUPT3H	6	45073695	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08		45073695	126041372	18	66240											
IMPG1	3617	broad.mit.edu	37	chr6	76744433	76744433	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggcagatgctgacccagtCctgatattcccctgtgtcag	7	11	10	13	0	1	3	1	2	0	1	3	3	3	3	4	1	1	2	4	1	1	2			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:76744433C>G	ENST00000369963.3	-	2	328	c.139G>C	c.(139-141)Gac>Cac	p.D47H	IMPG1_ENST00000369950.3_Missense_Mutation_p.D125H			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	125					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTGACCCAGTCCTGATATTCC	0.498													19	64					0	0	0	0	G	76744433	C	G	76744433	3	3	351	1	0	0	0	0	1	0	0	0	7781	855	30	2	2080	2	IMPG1	6	76744433	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	31670738	76744433	94370634	19	66241											
SYNE1	23345	broad.mit.edu	37	chr6	152651124	152651124	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttcactctcctcagcCagtccagggagcgactcatc	7	9	8	17	1	4	0	3	0	1	0	7	2	5	1	4	1	3	0	4	1	0	1			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:152651124C>T	ENST00000367255.5	-	78	15297	c.14696G>A	c.(14695-14697)tGg>tAg	p.W4899*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W4828*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W4828*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W4899*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W4646*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4899					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTCCTCAGCCAGTCCAGGGA	0.502										HNSCC(10;0.0054)			27	76					0	0	0	0	T	152651124	C	T	152651124	4	4	351	1	0	0	0	0	0	1	0	0	15536	595	21	4	12046	4	SYNE1	6	152651124	Nonsense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	75906691	152651124	18463943	20	66242											
MAP3K4	4216	broad.mit.edu	37	chr6	161519420	161519420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcccctctggtggtgactCtgtgctgcccaaatccatca	7	10	9	15	0	3	1	1	1	2	0	4	1	4	1	4	2	3	1	4	2	1	0			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:161519420C>T	ENST00000392142.4	+	17	3783	c.3635C>T	c.(3634-3636)tCt>tTt	p.S1212F	MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S1208F|MAP3K4_ENST00000348824.7_Intron	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1212					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGTGGTGACTCTGTGCTGCCC	0.622													43	120					0	0	0	0	T	161519420	C	T	161519420	3	4	351	1	0	0	0	0	1	0	0	0	9321	913	32	2	3701	2	MAP3K4	6	161519420	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	8868296	161519420	9595647	21	66243											
MLLT4	4301	broad.mit.edu	37	chr6	168315910	168315910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgctgcagagtcaatgccGccctgaccatccagctcttc	8	8	9	16	2	2	2	1	1	1	1	4	3	3	2	4	0	3	3	4	0	1	1			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:168315910G>A	ENST00000366806.2	+	18	2483	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	MLLT4_ENST00000351017.4_Missense_Mutation_p.A788T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A781T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A765T|MLLT4_ENST00000344191.4_Missense_Mutation_p.A781T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A780T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A781T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	781	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGTCAATGCCGCCCTGACCAT	0.537			T	MLL	AL								4	59					0	0	0	0	A	168315910	G	A	168315910	3	1	351	1	0	0	0	0	1	0	0	0	9698	1087	38	1	2411	1	MLLT4	6	168315910	Missense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	6796490	168315910	2799157	22	66244											
AVL9	23080	broad.mit.edu	37	chr7	32594194	32594194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatcctatttaagctaattCttcttgaaaaaaaggtacga	16	14	5	6	1	2	1	0	1	2	0	3	2	3	1	1	1	2	2	1	1	8	9			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:32594194C>T	ENST00000318709.4	+	8	816	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F	AVL9_ENST00000409301.1_Missense_Mutation_p.L199F|AVL9_ENST00000404479.1_Missense_Mutation_p.L199F	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	199						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TAAGCTAATTCTTCTTGAAAA	0.289													18	26					0	0	0	0	T	32594194	C	T	32594194	3	4	351	1	0	0	0	0	1	0	0	0	1232	913	32	2	625	2	AVL9	7	32594194	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08		32594194	126544469	23	66245											
AVL9	23080	broad.mit.edu	37	chr7	32598541	32598541	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgatattgcatattttagGcatgattgaacatggtctca	11	17	8	5	0	1	3	1	3	1	0	2	3	1	3	0	2	2	2	0	2	4	7			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:32598541G>C	ENST00000318709.4	+	10	901	c.679_splice	c.e10-1	p.G227_splice	AVL9_ENST00000409301.1_Splice_Site_p.G227_splice|AVL9_ENST00000404479.1_Splice_Site_p.G227_splice	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	227						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CATATTTTAGGCATGATTGAA	0.373													31	47					0	0	0	0	C	32598541	G	C	32598541	5	2	351	1	0	0	0	0	0	0	1	0	1232	1217	42	4	718	4	AVL9	7	32598541	Splice_Site	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	4347	32598541	126540122	24	66246											
SEMA3C	10512	broad.mit.edu	37	chr7	80378274	80378274	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagatgcctgcggagacttGggggcacactccagaaaagt	12	7	13	9	1	0	3	0	0	0	3	1	4	1	3	2	3	2	1	2	3	3	2			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:80378274G>A	ENST00000265361.3	-	17	2343	c.1782C>T	c.(1780-1782)ccC>ccT	p.P594P	SEMA3C_ENST00000419255.2_Silent_p.P594P|SEMA3C_ENST00000544525.1_Silent_p.P612P	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	594	Ig-like C2-type.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCGGAGACTTGGGGGCACACT	0.458													25	52					0	0	0	0	A	80378274	G	A	80378274	2	1	351	1	0	0	0	0	0	0	0	1	14113	1335	47	4		4	SEMA3C	7	80378274	Silent	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	47779733	80378274	78760389	25	66247											
MUC17	140453	broad.mit.edu	37	chr7	100677971	100677971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgacggtaccagcatgCcaacctcaacttatagtgaa	12	9	8	12	1	1	2	1	2	0	0	1	2	1	2	3	1	6	3	3	1	6	3			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:100677971C>T	ENST00000306151.4	+	3	3338	c.3274C>T	c.(3274-3276)Cca>Tca	p.P1092S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1092	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.507													7	480					0	0	0	0	T	100677971	C	T	100677971	3	4	351	1	0	0	0	0	1	0	0	0	10044	739	26	4	3284	4	MUC17	7	100677971	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	20299697	100677971	58460692	26	66248											
VGF	7425	broad.mit.edu	37	chr7	100807317	100807317	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacggggcggccacgccttGgtacgccttggacaggggtg	6	6	18	11	4	0	0	0	0	0	0	0	2	0	1	3	7	2	1	3	7	2	3			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:100807317G>A	ENST00000249330.2	-	2	1047	c.808C>T	c.(808-810)Caa>Taa	p.Q270*	VGF_ENST00000445482.2_Nonsense_Mutation_p.Q270*	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	270					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCACGCCTTGGTACGCCTTG	0.701													6	24					0	0	0	0	A	100807317	G	A	100807317	4	1	351	1	0	0	0	0	0	1	0	0	17253	1357	47	4	1043	4	VGF	7	100807317	Nonsense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	129346	100807317	58331346	27	66249											
ASZ1	136991	broad.mit.edu	37	chr7	117003786	117003786	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatatgagttggatcatttTcccgttcattttgcaactaa	10	17	7	7	1	2	1	2	1	0	0	3	2	3	2	1	1	2	4	1	1	4	9			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:117003786T>A	ENST00000284629.2	-	13	1354	c.1292A>T	c.(1291-1293)gAa>gTa	p.E431V		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	431					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TGGATCATTTTCCCGTTCATT	0.284													8	22					0	0	0	0	A	117003786	T	A	117003786	3	1	351	1	0	0	0	0	1	0	0	0	1073	1783	62	5	139	5	ASZ1	7	117003786	Missense_Mutation	SNP	T	TCGA-CV-A6JT-01A-11D-A31L-08	16196469	117003786	42134877	28	66250											
PPP3R2	5535	broad.mit.edu	37	chr9	104357132	104357132	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacttcttaaacctcctGcccagccttttaatttcatc	9	15	2	15	0	2	0	1	0	1	0	5	0	4	0	5	0	4	0	5	0	4	5			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr9:104357132G>T	ENST00000374806.1	-	1	151	c.81C>A	c.(79-81)ggC>ggA	p.G27G	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	24	EF-hand 1.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TAAACCTCCTGCCCAGCCTTT	0.562													27	89					9.39395e-14	9.90173e-14	1	0	T	104357132	G	T	104357132	2	4	351	1	0	0	0	0	0	0	0	1	12477	1306	46	4		4	PPP3R2	9	104357132	Silent	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08		104357132	36856299	29	66251											
ZMIZ1	57178	broad.mit.edu	37	chr10	81056307	81056307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacccagcccccaacccccCgaggccactcacctccccca	8	3	5	25	1	1	0	1	0	0	0	2	1	2	0	10	1	3	1	10	1	2	1	rs138149224		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr10:81056307C>T	ENST00000334512.5	+	13	1882	c.1310C>T	c.(1309-1311)cCg>cTg	p.P437L	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	437	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCAACCCCCCGAGGCCACTC	0.632													38	100					0	0	0	0	T	81056307	C	T	81056307	3	4	351	1	0	0	0	0	1	0	0	0	17791	652	23	1	1344	1	ZMIZ1	10	81056307	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08		81056307	54478440	30	66252											
OR4C6	219432	broad.mit.edu	37	chr11	55433284	55433284	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttcttatcttaattgcGtcctacacggtcatcctatg	8	17	5	11	2	4	0	1	0	3	0	6	0	6	0	2	1	2	0	2	1	4	6			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr11:55433284G>A	ENST00000314259.3	+	1	671	c.642G>A	c.(640-642)gcG>gcA	p.A214A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTTAATTGCGTCCTACACGG	0.517													30	68					0	0	0	0	A	55433284	G	A	55433284	2	1	351	1	0	0	0	0	0	0	0	1	11123	1132	40	1		1	OR4C6	11	55433284	Silent	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08		55433284	79573232	31	66253											
PLCB3	5331	broad.mit.edu	37	chr11	64033987	64033987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaactgacggagattaaccGtcggcacatcactgagtcag	12	7	12	10	3	2	3	2	2	0	1	3	5	2	4	1	3	2	1	1	3	2	1			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr11:64033987G>A	ENST00000540288.1	+	29	3480	c.3377G>A	c.(3376-3378)cGt>cAt	p.R1126H	PLCB3_ENST00000279230.6_Missense_Mutation_p.R1126H|PLCB3_ENST00000325234.5_Missense_Mutation_p.R1059H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1126					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GAGATTAACCGTCGGCACATC	0.642													14	63					0	0	0	0	A	64033987	G	A	64033987	3	1	351	1	0	0	0	0	1	0	0	0	12101	1145	40	1	3491	1	PLCB3	11	64033987	Missense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	8600703	64033987	70972529	32	66254											
CAPN1	823	broad.mit.edu	37	chr11	64978756	64978756	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagctgaccatgtttgcatGaggcagggactcggtccccc	7	8	13	13	1	0	2	0	2	0	0	2	3	1	3	3	3	2	5	3	3	0	1			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr11:64978756G>A	ENST00000527323.1	+	21	2384	c.2144G>A	c.(2143-2145)tGa>tAa	p.*715*	CAPN1_ENST00000524773.1_Silent_p.*715*|CAPN1_ENST00000279247.6_Silent_p.*715*|CAPN1_ENST00000533129.1_Silent_p.*715*|CAPN1_ENST00000533820.1_Silent_p.*715*			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	0					positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		ATGTTTGCATGAGGCAGGGAC	0.652													10	20					0	0	0	0	A	64978756	G	A	64978756	2	1	351	1	0	0	0	0	0	0	0	1	2647	1285	45	2		2	CAPN1	11	64978756	Silent	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	944769	64978756	70027760	33	66255											
OVOL1	5017	broad.mit.edu	37	chr11	65562094	65562094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagcgcatgctgaaccGccacatgaagtgtcacaacg	12	6	9	14	3	1	2	1	2	0	0	1	2	1	2	3	0	5	2	3	0	4	1			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr11:65562094G>A	ENST00000335987.3	+	3	756	c.404G>A	c.(403-405)cGc>cAc	p.R135H	OVOL1_ENST00000532448.1_Missense_Mutation_p.R73H	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	135					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		ATGCTGAACCGCCACATGAAG	0.587													19	76					0	0	0	0	A	65562094	G	A	65562094	3	1	351	1	0	0	0	0	1	0	0	0	11397	1087	38	1	414	1	OVOL1	11	65562094	Missense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	583338	65562094	69444422	34	66256											
LOH12CR1	118426	broad.mit.edu	37	chr12	12514171	12514171	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagccaagcatagagccaaGatggatgatattgtggttgt	12	10	12	7	0	0	3	0	1	0	2	0	4	0	4	3	2	3	2	3	2	4	4			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr12:12514171G>A	ENST00000314565.4	+	2	421	c.90G>A	c.(88-90)aaG>aaA	p.K30K	LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Silent_p.K11K	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	30										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		ATAGAGCCAAGATGGATGATA	0.483													29	90					0	0	0	0	A	12514171	G	A	12514171	2	1	351	1	0	0	0	0	0	0	0	1	8955	933	33	2		2	LOH12CR1	12	12514171	Silent	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08		12514171	121337724	35	66257											
WIF1	11197	broad.mit.edu	37	chr12	65445210	65445210	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgctgcctgagctgggcGcctgctggcctcagggcatg	3	9	17	12	1	1	1	1	1	0	0	1	1	1	1	3	3	4	4	3	3	0	0			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr12:65445210G>C	ENST00000286574.4	-	10	1433	c.1059C>G	c.(1057-1059)ggC>ggG	p.G353G		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	353					multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGAGCTGGGCGCCTGCTGGCC	0.507			T	HMGA2	pleomorphic salivary gland adenoma								18	44					0	0	0	0	C	65445210	G	C	65445210	2	2	351	1	0	0	0	0	0	0	0	1	17462	1074	38	3		3	WIF1	12	65445210	Silent	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	52931039	65445210	68406685	36	66258											
NR1H4	9971	broad.mit.edu	37	chr12	100904824	100904824	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagccccgcatgggcgcGtcagcagggaggatcaaagg	12	3	16	10	3	2	1	2	0	0	1	2	3	2	3	2	4	2	2	2	4	3	0			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr12:100904824G>A	ENST00000548884.1	+	4	889	c.348G>A	c.(346-348)gcG>gcA	p.A116A	NR1H4_ENST00000551379.1_Silent_p.A126A|NR1H4_ENST00000392986.3_Silent_p.A116A|NR1H4_ENST00000549996.1_Silent_p.A116A|NR1H4_ENST00000188403.7_Silent_p.A126A	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	126					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.A116A(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GCATGGGCGCGTCAGCAGGGA	0.517													25	77					0	0	0	0	A	100904824	G	A	100904824	2	1	351	1	0	0	0	0	0	0	0	1	10690	1132	40	1		1	NR1H4	12	100904824	Silent	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	35459614	100904824	32947071	37	66259											
HCFC2	29915	broad.mit.edu	37	chr12	104492254	104492254	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagggaagcaaagcatctCaaaggtagctattgatatat	18	9	9	5	0	1	1	1	1	1	0	2	2	1	2	0	2	3	4	0	2	9	5			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr12:104492254C>G	ENST00000229330.4	+	13	1978	c.1874C>G	c.(1873-1875)tCa>tGa	p.S625*	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	625	Fibronectin type-III 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CAAAGCATCTCAAAGGTAGCT	0.338													15	52					0	0	0	0	G	104492254	C	G	104492254	4	3	351	1	0	0	0	0	0	1	0	0	7043	838	29	2	1924	2	HCFC2	12	104492254	Nonsense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	3587430	104492254	29359641	38	66260											
SLITRK5	26050	broad.mit.edu	37	chr13	88327756	88327756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctctcgtcctttcgtgtgCagaaaccatcgattattatg	9	15	7	10	3	1	1	0	0	1	1	6	2	2	1	2	0	2	1	2	0	3	3			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr13:88327756C>T	ENST00000325089.6	+	2	332	c.113C>T	c.(112-114)gCa>gTa	p.A38V	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	38						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTTCGTGTGCAGAAACCATC	0.468													19	68					0	0	0	0	T	88327756	C	T	88327756	3	4	351	1	0	0	0	0	1	0	0	0	14834	710	25	4	115	4	SLITRK5	13	88327756	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08		88327756	26842122	39	66261											
TM9SF1	10548	broad.mit.edu	37	chr14	24682634	24682634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccttcccgaagagcctgccGagaccactcatcgcgagctc	8	6	9	18	4	1	2	1	0	0	2	4	5	2	2	5	0	3	1	5	0	1	1			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr14:24682634G>A	ENST00000530611.1	-	1	45	c.12C>T	c.(10-12)ctC>ctT	p.L4L	CHMP4A_ENST00000347519.6_Silent_p.L47L|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_Silent_p.L4L			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.L47L(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGAGCCTGCCGAGACCACTCA	0.682													21	68					0	0	0	0	A	24682634	G	A	24682634	2	1	351	1	0	0	0	0	0	0	0	1	16071	1045	37	1		1	TM9SF1	14	24682634	Silent	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08		24682634	82666906	40	66262											
MLH3	27030	broad.mit.edu	37	chr14	75509149	75509149	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaggaagaacaaggtcGcttctaaaaggttgacacct	16	7	11	7	1	1	2	0	1	1	1	2	4	1	4	1	4	1	2	1	4	6	3	rs149369905		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr14:75509149G>A	ENST00000355774.2	-	3	3527	c.3312C>T	c.(3310-3312)agC>agT	p.S1104S	MLH3_ENST00000380968.2_Silent_p.S50S|MLH3_ENST00000555671.1_Intron|MLH3_ENST00000238662.7_Silent_p.S1104S|MLH3_ENST00000556740.1_Silent_p.S1104S|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000544985.1_Silent_p.S99S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1104					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GAACAAGGTCGCTTCTAAAAG	0.413								Mismatch excision repair (MMR)					19	94					0	0	0	0	A	75509149	G	A	75509149	2	1	351	1	0	0	0	0	0	0	0	1	9687	1078	38	1		1	MLH3	14	75509149	Silent	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	50826515	75509149	31840391	41	66263											
CHRNB4	1143	broad.mit.edu	37	chr15	78922193	78922193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacctcaatcttgcaggCgctcttgtagatggcagggg	7	11	12	11	1	4	1	2	0	2	1	4	1	4	1	1	4	1	4	1	4	2	4			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr15:78922193C>T	ENST00000261751.3	-	5	565	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	152					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ATCTTGCAGGCGCTCTTGTAG	0.577													16	52					0	0	0	0	T	78922193	C	T	78922193	3	4	351	1	0	0	0	0	1	0	0	0	3422	768	27	1	1050	1	CHRNB4	15	78922193	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08		78922193	23609199	42	66264											
FES	2242	broad.mit.edu	37	chr15	91436545	91436545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacttcctgaccttcctccGcacggagggggcccgcctgc	4	7	12	18	4	0	1	0	1	0	0	3	3	3	2	6	3	1	1	6	3	0	2			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr15:91436545G>A	ENST00000328850.3	+	16	2088	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	FES_ENST00000450438.2_Missense_Mutation_p.R521H|FES_ENST00000444422.2_Missense_Mutation_p.R579H|FES_ENST00000414248.2_Missense_Mutation_p.R521H|FES_ENST00000394300.3_Missense_Mutation_p.R591H|FES_ENST00000394302.1_Missense_Mutation_p.R508H	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	649	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACCTTCCTCCGCACGGAGGGG	0.672													8	32					0	0	0	0	A	91436545	G	A	91436545	3	1	351	1	0	0	0	0	1	0	0	0	5865	1087	38	1	2004	1	FES	15	91436545	Missense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	12514352	91436545	11094847	43	66265											
ITGAD	3681	broad.mit.edu	37	chr16	31435812	31435812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatggtgctagaagaagacGaggtctacaatgccattccc	13	8	11	9	1	1	4	0	0	1	4	2	5	2	4	2	2	3	1	2	2	5	3			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr16:31435812G>A	ENST00000389202.2	+	29	3335	c.3286G>A	c.(3286-3288)Gag>Aag	p.E1096K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1096					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGAAGAAGACGAGGTCTACAA	0.522													15	64					0	0	0	0	A	31435812	G	A	31435812	3	1	351	1	0	0	0	0	1	0	0	0	7937	1059	37	1	3400	1	ITGAD	16	31435812	Missense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08		31435812	58918941	44	66266											
TP53	7157	broad.mit.edu	37	chr17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcggaacatctcgaagcGctcacgcccacggatctgca	9	7	9	16	5	4	0	1	0	3	0	6	3	4	2	1	2	3	2	1	2	2	0			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTCGAAGCGCTCACGCCCA	0.522		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	27					0	0	0	0	A	7574018	G	A	7574018	3	1	351	1	0	0	0	0	1	0	0	0	16476	1087	38	1	180	1	TP53	17	7574018	Missense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08		7574018	73621192	45	66267											
TP53	7157	broad.mit.edu	37	chr17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgttacacatgtagttgTagtggatggtggtacagtca	11	13	12	5	0	1	0	1	0	0	0	1	1	1	1	0	3	3	5	0	3	5	5			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr17:7577580T>C	ENST00000420246.2	-	7	833	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000269305.4_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	234	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATGTAGTTGTAGTGGATGGT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	53					0	0	0	0	C	7577580	T	C	7577580	3	2	351	1	0	0	0	0	1	0	0	0	16476	1638	57	5	589	5	TP53	17	7577580	Missense_Mutation	SNP	T	TCGA-CV-A6JT-01A-11D-A31L-08	3562	7577580	73617630	46	66268											
SYNRG	11276	broad.mit.edu	37	chr17	35879063	35879063	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagcaggtcaggcaggaCgaggccaggaggctttggtt	9	7	17	8	1	2	1	2	0	0	1	2	4	2	3	1	7	1	4	1	7	0	2	rs145948376		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr17:35879063C>G	ENST00000339208.6	-	22	4065	c.3925G>C	c.(3925-3927)Gtc>Ctc	p.V1309L	SYNRG_ENST00000394378.2_Missense_Mutation_p.V1254L|SYNRG_ENST00000346661.4_Missense_Mutation_p.V1297L|SYNRG_ENST00000345615.4_Missense_Mutation_p.V1219L|SYNRG_ENST00000591288.1_Missense_Mutation_p.V1103L|SYNRG_ENST00000585472.1_Missense_Mutation_p.V1230L|SYNRG_ENST00000502449.2_Missense_Mutation_p.V1174L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1309					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCAGGCAGGACGAGGCCAGGA	0.512													61	193					0	0	0	0	G	35879063	C	G	35879063	3	3	351	1	0	0	0	0	1	0	0	0	15551	536	19	3	23	3	SYNRG	17	35879063	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	28301483	35879063	45316147	47	66269											
CCR10	2826	broad.mit.edu	37	chr17	40832539	40832539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacactgggttggaaggcccGgctgaaggcctggacatcgg	8	6	17	10	2	0	1	0	1	0	0	1	4	0	3	2	7	0	2	2	7	2	1			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr17:40832539G>A	ENST00000332438.4	-	2	140	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	CCR10_ENST00000591765.1_5'UTR|CTD-3193K9.4_ENST00000593139.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	41						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TGGAAGGCCCGGCTGAAGGCC	0.667													8	37					0	0	0	0	A	40832539	G	A	40832539	3	1	351	1	0	0	0	0	1	0	0	0	2969	1115	39	1	971	1	CCR10	17	40832539	Missense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	4953476	40832539	40362671	48	66270											
QRICH2	84074	broad.mit.edu	37	chr17	74289637	74289637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccagttggttctaaccCacgacgatctggccttagat	9	11	9	12	2	2	1	0	0	2	1	2	3	2	1	3	2	2	2	3	2	2	4			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr17:74289637C>T	ENST00000262765.5	-	4	852	c.673G>A	c.(673-675)Ggg>Agg	p.G225R		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	225							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGTTCTAACCCACGACGATCT	0.567													22	58					0	0	0	0	T	74289637	C	T	74289637	3	4	351	1	0	0	0	0	1	0	0	0	12962	594	21	4	4382	4	QRICH2	17	74289637	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	33457098	74289637	6905573	49	66271											
ST8SIA5	29906	broad.mit.edu	37	chr18	44268762	44268762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacatgcggaagatctcCtggttgatgtggtagatgcc	10	10	14	7	1	1	3	0	1	1	2	2	5	1	5	2	4	3	2	2	4	3	2			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr18:44268762C>A	ENST00000315087.7	-	4	1092	c.432G>T	c.(430-432)caG>caT	p.Q144H	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.Q180H|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.Q113H	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	144					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GGAAGATCTCCTGGTTGATGT	0.597													23	52					7.92952e-12	8.2467e-12	1	0	A	44268762	C	A	44268762	3	1	351	1	0	0	0	0	1	0	0	0	15325	680	24	4	714	4	ST8SIA5	18	44268762	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08		44268762	33808486	50	66272											
GNA11	2767	broad.mit.edu	37	chr19	3118953	3118953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggggccagcggtcggagCggaggaagtggatccactgc	7	5	20	9	3	0	0	0	0	0	0	2	4	1	4	2	8	3	0	2	8	1	0			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:3118953C>T	ENST00000078429.4	+	5	879	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	213					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GCGGTCGGAGCGGAGGAAGTG	0.607			Mis		uveal melanoma								24	80					0	0	0	0	T	3118953	C	T	3118953	3	4	351	1	0	0	0	0	1	0	0	0	6550	759	27	1	655	1	GNA11	19	3118953	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08		3118953	56010030	51	66273											
SLC1A6	6511	broad.mit.edu	37	chr19	15072948	15072948	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaccacgaggcccagggcGttgatgccattggcggagcc	9	5	15	12	3	0	2	0	1	0	1	0	4	0	3	4	4	2	1	4	4	1	2	rs138937772	byFrequency	TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:15072948G>A	ENST00000598504.1	-	8	2160	c.801C>T	c.(799-801)aaC>aaT	p.N267N	SLC1A6_ENST00000600144.1_Silent_p.N267N|SLC1A6_ENST00000430939.2_Silent_p.N203N|SLC1A6_ENST00000221742.3_Silent_p.N267N|SLC1A6_ENST00000544886.2_Silent_p.N267N	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	267					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGCCCAGGGCGTTGATGCCAT	0.582													17	81					0	0	0	0	A	15072948	G	A	15072948	2	1	351	1	0	0	0	0	0	0	0	1	14524	1136	40	1		1	SLC1A6	19	15072948	Silent	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	11953995	15072948	44056035	52	66274											
MYO9B	4650	broad.mit.edu	37	chr19	17320428	17320428	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgatcaaggagcagatgagGaaatacaaagtgaagatgga	18	6	13	4	0	1	5	1	3	0	2	1	8	1	8	0	3	2	1	0	3	5	1			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:17320428G>A	ENST00000595618.1	+	36	5810	c.5658G>A	c.(5656-5658)agG>agA	p.R1886R	MYO9B_ENST00000594824.1_Silent_p.R1886R|MYO9B_ENST00000397274.2_Silent_p.R1886R	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1886	Rho-GAP.|Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCAGATGAGGAAATACAAAG	0.567													3	12					0	0	0	0	A	17320428	G	A	17320428	2	1	351	1	0	0	0	0	0	0	0	1	10155	1165	41	2		2	MYO9B	19	17320428	Silent	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	2247480	17320428	41808555	53	66275											
TSHZ3	57616	broad.mit.edu	37	chr19	31768537	31768537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgcagggcgctcaaaGggttaacaaaaggctgttca	12	8	12	9	1	2	1	2	1	0	0	2	1	2	1	0	3	2	5	0	3	4	2			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:31768537G>A	ENST00000240587.4	-	2	2489	c.2162C>T	c.(2161-2163)cCt>cTt	p.P721L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	721					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGCTCAAAGGGTTAACAAA	0.587													17	79					0	0	0	0	A	31768537	G	A	31768537	3	1	351	1	0	0	0	0	1	0	0	0	16720	1000	35	4	1087	4	TSHZ3	19	31768537	Missense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	14448109	31768537	27360446	54	66276											
KLK5	25818	broad.mit.edu	37	chr19	51451987	51451987	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcgcaccttttctgacttAgcacgctgatattcaagcac	9	12	6	14	2	2	2	1	2	1	0	3	2	2	2	2	0	2	4	2	0	3	5			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:51451987A>C	ENST00000336334.3	-	5	987	c.635T>G	c.(634-636)cTa>cGa	p.L212R	KLK5_ENST00000391809.2_Missense_Mutation_p.L212R|KLK5_ENST00000593428.1_Missense_Mutation_p.L212R	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	212	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTTCTGACTTAGCACGCTGAT	0.517													8	51					0	0	0	0	C	51451987	A	C	51451987	3	2	351	1	0	0	0	0	1	0	0	0	8459	420	15	5	254	5	KLK5	19	51451987	Missense_Mutation	SNP	A	TCGA-CV-A6JT-01A-11D-A31L-08	19683450	51451987	7676996	55	66277											
NLRP12	91662	broad.mit.edu	37	chr19	54314025	54314025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagaaggcttgagctcatcGaagccgtcgatgatgaaaag	15	7	12	7	3	1	4	1	3	0	1	3	6	1	4	1	1	2	2	1	1	5	1			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:54314025G>A	ENST00000324134.6	-	3	1056	c.888C>T	c.(886-888)ttC>ttT	p.F296F	NLRP12_ENST00000391772.1_Silent_p.F296F|NLRP12_ENST00000391773.1_Silent_p.F296F|NLRP12_ENST00000391775.3_Silent_p.F296F|NLRP12_ENST00000354278.3_Silent_p.F296F|NLRP12_ENST00000351894.4_Silent_p.F296F|NLRP12_ENST00000345770.5_Silent_p.F296F|NLRP12_ENST00000535162.1_Silent_p.F296F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	296	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGAGCTCATCGAAGCCGTCGA	0.587													13	41					0	0	0	0	A	54314025	G	A	54314025	2	1	351	1	0	0	0	0	0	0	0	1	10544	1049	37	1		1	NLRP12	19	54314025	Silent	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	2862038	54314025	4814958	56	66278											
ZNF628	89887	broad.mit.edu	37	chr19	55995271	55995271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagttgctcactggccCgggccccggggaggcggggg	4	5	21	11	3	1	1	1	1	0	0	1	3	1	3	3	8	1	2	3	8	0	1			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:55995271C>T	ENST00000391718.2	+	3	3264	c.2699C>T	c.(2698-2700)cCg>cTg	p.P900L	ZNF628_ENST00000598519.1_Missense_Mutation_p.P904L			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	900						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CTCACTGGCCCGGGCCCCGGG	0.662													4	20					0	0	0	0	T	55995271	C	T	55995271	3	4	351	1	0	0	0	0	1	0	0	0	18147	652	23	1	2701	1	ZNF628	19	55995271	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	1681246	55995271	3133712	57	66279											
JAM2	58494	broad.mit.edu	37	chr21	27071048	27071048	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgagtggaactgtggtaGagctacgatgtcaagacaaa	13	9	12	7	1	2	3	1	1	1	2	2	5	2	4	0	2	3	2	0	2	5	2			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr21:27071048G>C	ENST00000480456.1	+	5	1004	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	JAM2_ENST00000312957.5_Missense_Mutation_p.E152Q|JAM2_ENST00000425221.2_Missense_Mutation_p.E116Q|JAM2_ENST00000400532.1_Missense_Mutation_p.E152Q	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	152	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AACTGTGGTAGAGCTACGATG	0.438													10	23					0	0	0	0	C	27071048	G	C	27071048	3	2	351	1	0	0	0	0	1	0	0	0	7996	943	33	2	472	2	JAM2	21	27071048	Missense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08		27071048	21058847	58	66280											
C2CD2	25966	broad.mit.edu	37	chr21	43338969	43338969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacttacggactgacctccCccagtgctttgggctggata	9	10	10	12	1	0	1	0	1	0	0	1	3	1	3	3	3	3	2	3	3	3	3			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr21:43338969C>T	ENST00000380486.3	-	4	834	c.593G>A	c.(592-594)gGg>gAg	p.G198E	C2CD2_ENST00000329623.7_Missense_Mutation_p.G43E	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	198						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ACTGACCTCCCCCAGTGCTTT	0.517													4	32					0	0	0	0	T	43338969	C	T	43338969	3	4	351	1	0	0	0	0	1	0	0	0	2172	623	22	4	1541	4	C2CD2	21	43338969	Missense_Mutation	SNP	C	TCGA-CV-A6JT-01A-11D-A31L-08	16267921	43338969	4790926	59	66281											
SLC37A1	54020	broad.mit.edu	37	chr21	43959639	43959639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcatcattggggagcGcctgccgattaggtattacc	8	10	13	10	2	1	0	1	0	0	0	1	2	1	1	3	4	3	2	3	4	3	4			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr21:43959639G>A	ENST00000352133.2	+	6	1350	c.368G>A	c.(367-369)cGc>cAc	p.R123H	SLC37A1_ENST00000398341.3_Missense_Mutation_p.R123H			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	123					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						ATTGGGGAGCGCCTGCCGATT	0.517													15	64					0	0	0	0	A	43959639	G	A	43959639	3	1	351	1	0	0	0	0	1	0	0	0	14685	1087	38	1	386	1	SLC37A1	21	43959639	Missense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08	620670	43959639	4170256	60	66282											
MYH9	4627	broad.mit.edu	37	chr22	36708257	36708257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagggccagaatgcccGgggggcctgcctggaggaag	8	3	18	12	1	0	1	0	0	0	1	0	3	0	3	5	6	3	1	5	6	2	0			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr22:36708257G>A	ENST00000216181.5	-	14	1795	c.1565C>T	c.(1564-1566)cCg>cTg	p.P522L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	522	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGAATGCCCGGGGGGCCTGC	0.642			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				15	47					0	0	0	0	A	36708257	G	A	36708257	3	1	351	1	0	0	0	0	1	0	0	0	10112	1116	39	1	4429	1	MYH9	22	36708257	Missense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08		36708257	14596309	61	66283											
PCDH11X	27328	broad.mit.edu	37	chrX	91133553	91133553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaattgtcaatctgttcGtgaatgagtcggtgaccaat	10	15	10	6	2	2	3	1	3	1	0	4	3	2	3	1	1	0	2	1	1	4	4			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chrX:91133553G>A	ENST00000373094.1	+	2	3159	c.2314G>A	c.(2314-2316)Gtg>Atg	p.V772M	PCDH11X_ENST00000504220.1_Missense_Mutation_p.V772M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V772M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V772M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V772M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V772M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V772M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V772M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V772M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	772	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAATCTGTTCGTGAATGAGTC	0.433													25	32					0	0	0	0	A	91133553	G	A	91133553	3	1	351	1	0	0	0	0	1	0	0	0	11579	1145	40	1	2320	1	PCDH11X	23	91133553	Missense_Mutation	SNP	G	TCGA-CV-A6JT-01A-11D-A31L-08		91133553	64137007	62	66284											
TMEM201	199953	broad.mit.edu	37	chr1	9661266	9661266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgcgctgtatggggccaGcggacacttcgccccaggca	7	5	13	16	4	0	0	0	0	0	0	1	1	0	1	4	4	1	3	4	4	1	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:9661266G>T	ENST00000340305.5	+	5	719	c.710G>T	c.(709-711)aGc>aTc	p.S237I	TMEM201_ENST00000340381.6_Missense_Mutation_p.S237I|TMEM201_ENST00000377376.4_Missense_Mutation_p.S237I	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	237						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		TATGGGGCCAGCGGACACTTC	0.687													18	86					1.56452e-12	1.84243e-12	1	0	T	9661266	G	T	9661266	3	4	352	1	0	0	0	0	1	0	0	0	16220	971	34	4	728	4	TMEM201	1	9661266	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08		9661266	239589355	1	66285											
VPS13D	55187	broad.mit.edu	37	chr1	12359287	12359287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcccagcgctgttcacGggttctcctggatattgagg	7	11	12	11	2	3	1	2	1	1	0	4	2	3	2	2	3	2	3	2	3	2	4			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:12359287G>T	ENST00000358136.3	+	25	6192	c.6062G>T	c.(6061-6063)cGg>cTg	p.R2021L	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2021L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2021					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGCTGTTCACGGGTTCTCCTG	0.438													25	69					6.36457e-07	6.9467e-07	1	0	T	12359287	G	T	12359287	3	4	352	1	0	0	0	0	1	0	0	0	17288	1116	39	3	6156	3	VPS13D	1	12359287	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	2698021	12359287	236891334	2	66286											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17983200	17983200	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgcttaccctcggaccAgcggtgaggactggggggaa	7	8	16	10	2	0	1	0	1	0	0	1	4	0	4	2	6	4	2	2	6	2	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:17983200A>G	ENST00000361221.3	+	25	3016	c.2857A>G	c.(2857-2859)Agc>Ggc	p.S953G	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S914G|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S656G|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S914G|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S726G|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S948G	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	953					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCCTCGGACCAGCGGTGAGGA	0.647													3	50					0	0	0	0	G	17983200	A	G	17983200	3	3	352	1	0	0	0	0	1	0	0	0	897	188	7	5	2951	5	ARHGEF10L	1	17983200	Missense_Mutation	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	5623913	17983200	231267421	3	66287											
OSBPL9	114883	broad.mit.edu	37	chr1	52117695	52117695	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgagaggctctcgcagAggatgtgttagactcagagt	11	10	14	6	1	2	5	1	2	1	4	3	7	2	6	0	2	0	3	0	2	1	1			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:52117695A>T	ENST00000371710.3	+	2	380	c.198A>T	c.(196-198)agA>agT	p.R66S	OSBPL9_ENST00000337809.4_Missense_Mutation_p.R66S|OSBPL9_ENST00000371714.1_Missense_Mutation_p.R48S|OSBPL9_ENST00000428468.1_Missense_Mutation_p.R48S|OSBPL9_ENST00000447887.1_Missense_Mutation_p.R48S|OSBPL9_ENST00000453295.1_Intron|OSBPL9_ENST00000435686.2_De_novo_Start_InFrame	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	48	PH.				lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						GCTCTCGCAGAGGATGTGTTA	0.294													8	20					0	0	0	0	T	52117695	A	T	52117695	3	4	352	1	0	0	0	0	1	0	0	0	11355	301	11	5	150	5	OSBPL9	1	52117695	Missense_Mutation	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	34134495	52117695	197132926	4	66288											
NEXN	91624	broad.mit.edu	37	chr1	78408471	78408471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagtcaacaataaaggatCtgcagctagtacctgtattc	14	10	8	9	0	2	0	1	0	1	0	3	1	2	1	1	1	5	5	1	1	7	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:78408471C>T	ENST00000330010.8	+	12	2090	c.1793C>T	c.(1792-1794)tCt>tTt	p.S598F	NEXN_ENST00000457030.1_Missense_Mutation_p.S648F|NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000334785.7_Missense_Mutation_p.S662F	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	662	Ig-like.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AATAAAGGATCTGCAGCTAGT	0.313													7	44					0	0	0	0	T	78408471	C	T	78408471	3	4	352	1	0	0	0	0	1	0	0	0	10425	913	32	2	2031	2	NEXN	1	78408471	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	26290776	78408471	170842150	5	66289											
ABCA4	24	broad.mit.edu	37	chr1	94506780	94506780	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctacctcactgcctttcctTtggctctggatgtttttcat	4	18	6	13	0	3	0	2	0	1	0	4	1	4	1	4	2	2	2	4	2	1	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:94506780T>C	ENST00000370225.3	-	23	3593	c.3507A>G	c.(3505-3507)caA>caG	p.Q1169Q		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1169					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGCCTTTCCTTTGGCTCTGGA	0.562													6	44					0	0	0	0	C	94506780	T	C	94506780	2	2	352	1	0	0	0	0	0	0	0	1	34	1838	64	5		5	ABCA4	1	94506780	Silent	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	16098309	94506780	154743841	6	66290											
HRNR	388697	broad.mit.edu	37	chr1	152192014	152192014	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaccaaagccggaagaCtggcctgagacagacccatg	12	6	12	11	1	0	4	0	2	0	3	0	6	0	5	4	2	1	0	4	2	2	1			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:152192014C>G	ENST00000368801.2	-	3	2166	c.2091G>C	c.(2089-2091)caG>caC	p.Q697H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	697					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCGGAAGACTGGCCTGAGA	0.567													62	242					0	0	0	0	G	152192014	C	G	152192014	3	3	352	1	0	0	0	0	1	0	0	0	7409	564	20	4	6465	4	HRNR	1	152192014	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	57685234	152192014	97058607	7	66291											
ADAR	103	broad.mit.edu	37	chr1	154561914	154561914	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctccttttaggctgagaGaatctcctttcacacagcga	9	14	7	11	1	3	2	1	1	2	1	5	4	3	2	2	1	1	1	2	1	2	4			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:154561914G>C	ENST00000368474.4	-	9	2892	c.2693C>G	c.(2692-2694)tCt>tGt	p.S898C	ADAR_ENST00000292205.5_Missense_Mutation_p.S941C|ADAR_ENST00000368471.3_Missense_Mutation_p.S603C	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	898	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TAGGCTGAGAGAATCTCCTTT	0.468													10	33					0	0	0	0	C	154561914	G	C	154561914	3	2	352	1	0	0	0	0	1	0	0	0	281	942	33	2	1015	2	ADAR	1	154561914	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	2369900	154561914	94688707	8	66292											
PBXIP1	57326	broad.mit.edu	37	chr1	154919109	154919109	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcacaccccatctgggccCcggacacagtcggcctccag	8	4	11	18	2	1	0	0	0	1	0	3	1	2	1	6	4	0	1	6	4	0	0			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:154919109C>T	ENST00000368463.3	-	10	1112	c.1041G>A	c.(1039-1041)cgG>cgA	p.R347R	PBXIP1_ENST00000542459.1_Silent_p.R192R|PBXIP1_ENST00000539880.1_Silent_p.R174R|PBXIP1_ENST00000368465.1_Silent_p.R318R	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	347					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CATCTGGGCCCCGGACACAGT	0.697													13	59					0	0	0	0	T	154919109	C	T	154919109	2	4	352	1	0	0	0	0	0	0	0	1	11567	610	22	4		4	PBXIP1	1	154919109	Silent	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	357195	154919109	94331512	9	66293											
ASTN1	460	broad.mit.edu	37	chr1	176983983	176983983	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttatgtactggatccttCatgtagccttcatagcagag	9	14	9	9	0	2	1	2	0	0	1	3	2	3	2	2	1	4	4	2	1	4	6			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:176983983C>G	ENST00000367654.2	-	8	1504	c.1491G>C	c.(1489-1491)atG>atC	p.M497I	ASTN1_ENST00000424564.2_Missense_Mutation_p.M489I|ASTN1_ENST00000367657.3_Missense_Mutation_p.M489I|ASTN1_ENST00000361833.2_Missense_Mutation_p.M489I|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	497	EGF-like 1.				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						CTGGATCCTTCATGTAGCCTT	0.448													75	279					0	0	0	0	G	176983983	C	G	176983983	3	3	352	1	0	0	0	0	1	0	0	0	1068	826	29	2	2485	2	ASTN1	1	176983983	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	22064874	176983983	72266638	10	66294											
CFHR4	10877	broad.mit.edu	37	chr1	196879474	196879474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atattatgagaatacgcgtaGaccatactttccagtagcta	14	12	7	8	2	0	2	0	1	0	2	1	3	1	2	2	0	3	3	2	0	8	8			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:196879474G>A	ENST00000367416.2	+	6	997	c.860G>A	c.(859-861)aGa>aAa	p.R287K	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.R41K|CFHR4_ENST00000251424.4_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						AATACGCGTAGACCATACTTT	0.343													7	52					0	0	0	0	A	196879474	G	A	196879474	3	1	352	1	0	0	0	0	1	0	0	0	3316	957	33	2		2	CFHR4	1	196879474	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	19895491	196879474	52371147	11	66295											
RGS7	6000	broad.mit.edu	37	chr1	240975222	240975222	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcaatgtgttttaccttaAattttccgagctgaattctg	11	16	7	7	1	1	1	0	1	1	0	2	2	2	1	2	0	3	3	2	0	6	6			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:240975222A>T	ENST00000366565.1	-	14	1459	c.1078T>A	c.(1078-1080)Tta>Ata	p.L360I	RGS7_ENST00000407727.1_Missense_Mutation_p.L360I|RGS7_ENST00000366563.1_Missense_Mutation_p.L360I|RGS7_ENST00000331110.7_Missense_Mutation_p.L334I|RGS7_ENST00000366564.1_Missense_Mutation_p.L360I|RGS7_ENST00000366562.4_Missense_Mutation_p.L360I|RGS7_ENST00000401882.1_Missense_Mutation_p.L307I|RGS7_ENST00000446183.2_Missense_Mutation_p.L276I|RGS7_ENST00000348120.2_Missense_Mutation_p.L307I	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	360	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.L360V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTACCTTAAATTTTCCGAG	0.388													18	65					0	0	0	0	T	240975222	A	T	240975222	3	4	352	1	0	0	0	0	1	0	0	0	13393	11	1	5	405	5	RGS7	1	240975222	Missense_Mutation	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	44095748	240975222	8275399	12	66296											
NLRP3	114548	broad.mit.edu	37	chr1	247582236	247582236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccgaggggtcagacagAgaaggcagaccatgtggatc	11	5	14	11	1	1	3	1	0	0	3	3	6	2	4	3	4	0	1	3	4	1	0			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:247582236A>G	ENST00000366497.2	+	2	920	c.140A>G	c.(139-141)gAg>gGg	p.E47G	NLRP3_ENST00000391827.2_Missense_Mutation_p.E47G|NLRP3_ENST00000391828.3_Missense_Mutation_p.E47G|NLRP3_ENST00000336119.3_Missense_Mutation_p.E47G|NLRP3_ENST00000366496.2_Missense_Mutation_p.E47G|NLRP3_ENST00000348069.2_Missense_Mutation_p.E47G|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	47	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGTCAGACAGAGAAGGCAGAC	0.557													6	37					0	0	0	0	G	247582236	A	G	247582236	3	3	352	1	0	0	0	0	1	0	0	0	10548	304	11	5	142	5	NLRP3	1	247582236	Missense_Mutation	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	6607014	247582236	1668385	13	66297											
OR2T33	391195	broad.mit.edu	37	chr1	248436216	248436216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacacacgtccccagccaccGtttcagggctcccttcacct	7	9	6	19	2	2	0	2	0	0	0	4	0	4	0	6	1	2	2	6	1	1	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:248436216G>C	ENST00000318021.2	-	1	922	c.901C>G	c.(901-903)Cgg>Ggg	p.R301G		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCAGCCACCGTTTCAGGGCT	0.443													39	160					0	0	0	0	C	248436216	G	C	248436216	3	2	352	1	0	0	0	0	1	0	0	0	11095	1144	40	3	64	3	OR2T33	1	248436216	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	853980	248436216	814405	14	66298											
NT5C1B	93034	broad.mit.edu	37	chr2	18765857	18765857	+	Missense_Mutation	SNP	C	C	T																															gtaggcagcctcgtagtcgtCctcgtcctcccgctgctgct																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:18765857C>T	ENST00000304081.4	-	4	746	c.646G>A	c.(646-648)Gac>Aac	p.D216N	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D276N|NT5C1B_ENST00000600945.1_Missense_Mutation_p.D276N|NT5C1B_ENST00000359846.2_Missense_Mutation_p.D276N	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TCGTAGTCGTCCTCGTCCTCC	0.682													4	14					0	0	0	0	T	18765857	C	T	18765857	3	4	352	1	0	0	0	0	1	0	0	0	10757	855	30	2	1030	2	NT5C1B	2	18765857	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08		18765857	224433516	15	66299	820	2									
NT5C1B	93034	broad.mit.edu	37	chr2	18765864	18765864	+	Missense_Mutation	SNP	C	C	G																															gcctcgtagtcgtcctcgtcCtcccgctgctgctgctgctg																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:18765864C>G	ENST00000304081.4	-	4	739	c.639G>C	c.(637-639)gaG>gaC	p.E213D	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E273D|NT5C1B_ENST00000600945.1_Missense_Mutation_p.E273D|NT5C1B_ENST00000359846.2_Missense_Mutation_p.E273D	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CGTCCTCGTCCTCCCGCTGCT	0.677													6	12					0	0	0	0	G	18765864	C	G	18765864	3	3	352	1	0	0	0	0	1	0	0	0	10757	680	24	4	1037	4	NT5C1B	2	18765864	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	7	18765864	224433509	16	66300	820	2									
FBXO41	150726	broad.mit.edu	37	chr2	73492756	73492756	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggatgcggctggcacAcggctggaggccctggggca	5	6	18	12	2	1	0	0	0	1	0	1	2	1	2	1	8	1	4	1	8	0	0			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:73492756A>G	ENST00000521871.1	-	5	1633	c.1218T>C	c.(1216-1218)cgT>cgC	p.R406R	FBXO41_ENST00000520530.2_Silent_p.R406R|FBXO41_ENST00000295133.5_Silent_p.R467R			Q8TF61	FBX41_HUMAN	F-box protein 41	406						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CGGCTGGCACACGGCTGGAGG	0.662													4	12					0	0	0	0	G	73492756	A	G	73492756	2	3	352	1	0	0	0	0	0	0	0	1	5795	146	6	5		5	FBXO41	2	73492756	Silent	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	54726892	73492756	169706617	17	66301											
INPP4A	3631	broad.mit.edu	37	chr2	99179952	99179952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagtgaggccctttaccCgctgctgaccactctcaccg	7	9	10	15	2	1	2	1	2	1	0	2	3	1	3	4	2	2	2	4	2	1	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:99179952C>A	ENST00000074304.5	+	19	2288	c.1895C>A	c.(1894-1896)cCg>cAg	p.P632Q	INPP4A_ENST00000545415.1_Missense_Mutation_p.P593Q|INPP4A_ENST00000409851.3_Missense_Mutation_p.P627Q|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000523221.1_Missense_Mutation_p.P632Q|INPP4A_ENST00000409016.3_Missense_Mutation_p.P593Q|INPP4A_ENST00000409540.3_Missense_Mutation_p.P593Q	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	632					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GCCCTTTACCCGCTGCTGACC	0.532													8	21					0.000157383	0.000165715	1	0	A	99179952	C	A	99179952	3	1	352	1	0	0	0	0	1	0	0	0	7805	652	23	3	1961	3	INPP4A	2	99179952	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	25687196	99179952	144019421	18	66302											
ARHGEF4	50649	broad.mit.edu	37	chr2	131688556	131688556	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaagaaccagcaggtgAgaagcccagttgctctcaca	12	6	12	11	0	1	2	1	1	1	2	2	4	1	3	2	2	4	3	2	2	3	1			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:131688556A>T	ENST00000409359.1	+	3	3792	c.2594A>T	c.(2593-2595)gAg>gTg	p.E865V	ARHGEF4_ENST00000428230.2_Missense_Mutation_p.E9V|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.E9V|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.E9V|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.E9V|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.E9V			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	9					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCAGCAGGTGAGAAGCCCAGT	0.572													13	60					0	0	0	0	T	131688556	A	T	131688556	3	4	352	1	0	0	0	0	1	0	0	0	910	304	11	5	28	5	ARHGEF4	2	131688556	Missense_Mutation	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	32508604	131688556	111510817	19	66303											
KYNU	8942	broad.mit.edu	37	chr2	143713795	143713795	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattttttaagcctacgccAaaacgatataaaattcttct	14	15	3	9	2	3	0	1	0	2	0	3	1	3	0	2	0	3	0	2	0	7	8			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:143713795A>G	ENST00000264170.4	+	6	717	c.459A>G	c.(457-459)ccA>ccG	p.P153P	KYNU_ENST00000409512.1_Silent_p.P153P|KYNU_ENST00000375773.2_Silent_p.P153P	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	153					anthranilate metabolic process|NAD biosynthetic 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)	AGCCTACGCCAAAACGATATA	0.308													4	24					0	0	0	0	G	143713795	A	G	143713795	2	3	352	1	0	0	0	0	0	0	0	1	8640	117	5	5		5	KYNU	2	143713795	Silent	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	12025239	143713795	99485578	20	66304											
RARB	5915	broad.mit.edu	37	chr3	25635063	25635065	+	In_Frame_Del	DEL	AAT	AAT	-																															tctcagacggccttaccctaAatcgaactcagatgcacaat																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:25635063_25635065delAAT	ENST00000330688.4	+	6	1277_1279	c.856_858delAAT	c.(856-858)del	p.N286del	RARB_ENST00000458646.1_In_Frame_Del_p.N174del|RARB_ENST00000404969.1_In_Frame_Del_p.N293del|RARB_ENST00000462272.1_Intron|RARB_ENST00000437042.2_In_Frame_Del_p.N174del	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	293	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCTTACCCTAAATCGAACTCAGA	0.443													30	78	---	---	---	---					-	25635065	AAT	-	25635063	7	5	352	1	0	1	0	1	0	0	0	0	13135	14	1	0	878	0	RARB	3	25635063	In_Frame_Del	DEL	AAT	TCGA-CV-A6JU-01A-11D-A31L-08		25635063	172387367	21	66305											
LAMB2	3913	broad.mit.edu	37	chr3	49159484	49159484	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtgctgcctgtactgTctctgccttctgtttctcat	3	17	7	14	0	3	0	1	0	3	0	6	0	4	0	3	0	4	3	3	0	1	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:49159484T>C	ENST00000418109.1	-	30	4980	c.4816A>G	c.(4816-4818)Aca>Gca	p.T1606A	LAMB2_ENST00000305544.4_Missense_Mutation_p.T1606A	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1606	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTGTACTGTCTCTGCCTTC	0.617													16	56					0	0	0	0	C	49159484	T	C	49159484	3	2	352	1	0	0	0	0	1	0	0	0	8664	1667	58	5	596	5	LAMB2	3	49159484	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	23524421	49159484	148862946	22	66306											
HYAL3	8372	broad.mit.edu	37	chr3	50330867	50330867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaccgctggtgactgcagGccatcgctgccctggtcaca	6	7	13	15	2	1	1	1	1	0	0	2	1	1	1	3	4	2	4	3	4	0	0			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:50330867G>A	ENST00000336307.1	-	4	1336	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V	HYAL3_ENST00000359051.3_Missense_Mutation_p.A325V|HYAL3_ENST00000415204.1_Missense_Mutation_p.A106V|HYAL3_ENST00000450982.1_Missense_Mutation_p.A325V|HYAL3_ENST00000513170.1_Missense_Mutation_p.A76V	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	355	EGF-like.				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTGACTGCAGGCCATCGCTGC	0.607													13	42					0	0	0	0	A	50330867	G	A	50330867	3	1	352	1	0	0	0	0	1	0	0	0	7518	1203	42	4	193	4	HYAL3	3	50330867	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	1171383	50330867	147691563	23	66307											
CNTN3	5067	broad.mit.edu	37	chr3	74350566	74350566	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctgcctcttcagttcttActttttctgagggtaaactt	8	17	6	10	0	4	1	1	1	3	0	4	1	4	1	2	1	4	2	2	1	4	7			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:74350566A>T	ENST00000263665.6	-	15	2105	c.2078T>A	c.(2077-2079)gTa>gAa	p.V693E		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	693	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTCAGTTCTTACTTTTTCTGA	0.423													16	57					0	0	0	0	T	74350566	A	T	74350566	3	4	352	1	0	0	0	0	1	0	0	0	3672	391	14	5	1040	5	CNTN3	3	74350566	Missense_Mutation	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	24019699	74350566	123671864	24	66308											
ALCAM	214	broad.mit.edu	37	chr3	105260482	105260482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctatcaaaagggacaGcccgaaggaataagaagctc	15	6	10	10	1	2	1	1	0	1	1	3	4	2	3	2	2	3	1	2	2	7	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:105260482G>T	ENST00000306107.5	+	8	1364	c.864G>T	c.(862-864)caG>caT	p.Q288H	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.Q237H|ALCAM_ENST00000472644.2_Missense_Mutation_p.Q288H|ALCAM_ENST00000389927.4_Intron	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	288	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAAAGGGACAGCCCGAAGGAA	0.393													8	33					0.00448238	0.00461119	1	0	T	105260482	G	T	105260482	3	4	352	1	0	0	0	0	1	0	0	0	487	962	34	4	894	4	ALCAM	3	105260482	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	30909916	105260482	92761948	25	66309											
ADCY5	111	broad.mit.edu	37	chr3	123166800	123166800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacagcaccgcgccgggcCccgcgcccgagcccgagtcc	5	1	15	20	7	0	0	0	0	0	0	1	3	1	1	7	2	2	1	7	2	0	0			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:123166800C>T	ENST00000462833.1	-	1	1805	c.593G>A	c.(592-594)gGg>gAg	p.G198E		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	198					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		cgcgccgggccccgcgcccgA	0.746													6	13					0	0	0	0	T	123166800	C	T	123166800	3	4	352	1	0	0	0	0	1	0	0	0	297	623	22	4	3276	4	ADCY5	3	123166800	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	17906318	123166800	74855630	26	66310											
CPNE4	131034	broad.mit.edu	37	chr3	131268816	131268816	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttggtgttagtttccTctgacgctgacttggcaacc	5	14	9	13	1	1	2	0	2	1	0	3	2	3	2	4	2	1	4	4	2	2	4			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:131268816T>A	ENST00000512055.1	-	18	3403	c.1277A>T	c.(1276-1278)gAg>gTg	p.E426V	CPNE4_ENST00000502818.1_Missense_Mutation_p.E444V|CPNE4_ENST00000429747.1_Missense_Mutation_p.E426V|CPNE4_ENST00000511604.1_Missense_Mutation_p.E426V|CPNE4_ENST00000512332.1_Missense_Mutation_p.E444V			Q96A23	CPNE4_HUMAN	copine IV	426	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GTTAGTTTCCTCTGACGCTGA	0.532													15	67					0	0	0	0	A	131268816	T	A	131268816	3	1	352	1	0	0	0	0	1	0	0	0	3844	1551	54	5	408	5	CPNE4	3	131268816	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	8102016	131268816	66753614	27	66311											
ZBBX	79740	broad.mit.edu	37	chr3	167000073	167000073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttttccaaattgtctaaaGtatgttgatcagtagtgtca	11	17	7	6	0	3	1	2	1	1	0	4	1	4	1	1	0	0	3	1	0	5	7			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:167000073G>A	ENST00000392766.2	-	19	2430	c.2090C>T	c.(2089-2091)aCt>aTt	p.T697I	ZBBX_ENST00000307529.5_Missense_Mutation_p.T736I|ZBBX_ENST00000455345.2_Missense_Mutation_p.T736I|ZBBX_ENST00000392764.1_Missense_Mutation_p.T668I|ZBBX_ENST00000392767.2_Missense_Mutation_p.T697I	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	697						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTGTCTAAAGTATGTTGATC	0.328													23	50					0	0	0	0	A	167000073	G	A	167000073	3	1	352	1	0	0	0	0	1	0	0	0	17612	1029	36	4	324	4	ZBBX	3	167000073	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	35731257	167000073	31022357	28	66312											
TP63	8626	broad.mit.edu	37	chr3	189582020	189582020	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggccccaactctaagcaGtattccactgaactgaagaa	14	8	7	12	0	1	3	0	2	1	1	2	3	2	3	3	1	3	2	3	1	6	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:189582020G>T	ENST00000264731.3	+	5	668		c.e5-1		TP63_ENST00000392463.2_Splice_Site|TP63_ENST00000392461.3_Splice_Site|TP63_ENST00000418709.2_Splice_Site|TP63_ENST00000449992.1_Splice_Site|TP63_ENST00000382063.4_Splice_Site|TP63_ENST00000440651.2_Splice_Site|TP63_ENST00000320472.5_Splice_Site|TP63_ENST00000354600.5_Splice_Site|TP63_ENST00000456148.1_Splice_Site|TP63_ENST00000437221.1_Splice_Site|TP63_ENST00000392460.3_Splice_Site	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACTCTAAGCAGTATTCCACTG	0.458										HNSCC(45;0.13)			89	169					9.27813e-46	1.13752e-45	1	0	T	189582020	G	T	189582020	5	4	352	1	0	0	0	0	0	0	1	0	16487	1043	36	4	643	4	TP63	3	189582020	Splice_Site	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	22581947	189582020	8440410	29	66313											
DRD5	1816	broad.mit.edu	37	chr4	9783962	9783962	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggcagtcgccgaggtGgccggttactggccctttgg	5	9	17	10	3	0	0	0	0	0	0	1	2	0	1	3	7	1	2	3	7	2	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:9783962G>T	ENST00000304374.2	+	1	705	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	103					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.V103V(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCGCCGAGGTGGCCGGTTACT	0.612													4	84					2.0095e-06	2.15389e-06	1	0	T	9783962	G	T	9783962	2	4	352	1	0	0	0	0	0	0	0	1	4796	1335	47	4		4	DRD5	4	9783962	Silent	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08		9783962	181370314	30	66314											
THAP9	79725	broad.mit.edu	37	chr4	83828954	83828955	+	Frame_Shift_Ins	INS	-	-	T																															cagattttaagtgggagttaINStataattggagagaaacaga																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:83828954_83828955insT	ENST00000302236.5	+	4	648_649	c.597_598insT	c.(595-600)ttataafs	p.L*199fs		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	199							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AGTGGGAGTTATATAATTGGAG	0.292													12	36	---	---	---	---					T	83828955	-	T	83828954	7	5	352	1	0	1	1	0	0	0	0	0	15945	446	16	0	611	0	THAP9	4	83828954	Frame_Shift_Ins	INS	-	TCGA-CV-A6JU-01A-11D-A31L-08	74044992	83828954	107325322	31	66315											
WDFY3	23001	broad.mit.edu	37	chr4	85696000	85696000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatcattgctgctaggaaaaCcttgcagtaagaagctcagg	13	9	11	8	0	2	1	2	0	0	1	2	3	2	2	1	2	5	5	1	2	5	4			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:85696000C>T	ENST00000322366.6	-	29	5134	c.4727G>A	c.(4726-4728)gGt>gAt	p.G1576D	WDFY3_ENST00000295888.4_Missense_Mutation_p.G1576D			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1576						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCTAGGAAAACCTTGCAGTAA	0.388													14	53					0	0	0	0	T	85696000	C	T	85696000	3	4	352	1	0	0	0	0	1	0	0	0	17366	507	18	4	6013	4	WDFY3	4	85696000	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	1867046	85696000	105458276	32	66316											
SLC10A6	345274	broad.mit.edu	37	chr4	87744876	87744876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgtggccaactggctcgaGagccctgtggcaatccattg	8	9	13	11	1	0	1	0	0	0	1	2	3	1	1	3	3	2	2	3	3	2	1	rs146262257		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:87744876G>C	ENST00000273905.6	-	6	1246	c.1099C>G	c.(1099-1101)Ctc>Gtc	p.L367V		NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	367						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ACTGGCTCGAGAGCCCTGTGG	0.542													7	37					0	0	0	0	C	87744876	G	C	87744876	3	2	352	1	0	0	0	0	1	0	0	0	14466	942	33	2	38	2	SLC10A6	4	87744876	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	2048876	87744876	103409400	33	66317											
NUDT9	53343	broad.mit.edu	37	chr4	88370348	88370348	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcctgtttctgggaagcaTatcttacaatttgttgcaat	10	16	7	8	0	2	0	0	0	2	0	3	1	3	1	1	1	3	4	1	1	5	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:88370348T>C	ENST00000473942.1	+	5	557	c.435T>C	c.(433-435)caT>caC	p.H145H	NUDT9_ENST00000302174.4_Silent_p.H195H|NUDT9_ENST00000515371.1_3'UTR	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	195						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		CTGGGAAGCATATCTTACAAT	0.328													11	37					0	0	0	0	C	88370348	T	C	88370348	2	2	352	1	0	0	0	0	0	0	0	1	10817	1403	49	5		5	NUDT9	4	88370348	Silent	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	625472	88370348	102783928	34	66318											
GPRIN3	285513	broad.mit.edu	37	chr4	90170587	90170587	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcagagtcacagatggcTccctgcctttccccttcagg	7	12	8	14	0	3	2	3	0	0	2	5	2	5	2	4	2	1	1	4	2	0	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:90170587T>C	ENST00000333209.3	-	2	1193	c.675A>G	c.(673-675)ggA>ggG	p.G225G		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	225										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CACAGATGGCTCCCTGCCTTT	0.542													7	57					0	0	0	0	C	90170587	T	C	90170587	2	2	352	1	0	0	0	0	0	0	0	1	6781	1538	54	5		5	GPRIN3	4	90170587	Silent	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	1800239	90170587	100983689	35	66319											
USP53	54532	broad.mit.edu	37	chr4	120193152	120193152	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgatggaaatggtacagtaAtggatatcagtggtgttaaa	14	12	12	3	1	1	0	1	0	0	0	2	3	1	2	0	4	1	3	0	4	6	4			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:120193152A>G	ENST00000450251.1	+	12	2681	c.2137A>G	c.(2137-2139)Atg>Gtg	p.M713V	USP53_ENST00000274030.6_Missense_Mutation_p.M713V			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	713					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGGTACAGTAATGGATATCAG	0.363													25	101					0	0	0	0	G	120193152	A	G	120193152	3	3	352	1	0	0	0	0	1	0	0	0	17180	101	4	5	2183	5	USP53	4	120193152	Missense_Mutation	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	30022565	120193152	70961124	36	66320											
NAA15	80155	broad.mit.edu	37	chr4	140264024	140264024	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgacctgcgcagagagcAtcatggattggttatgctat	9	12	11	9	2	1	1	1	0	0	1	2	4	1	2	1	2	3	4	1	2	2	4			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:140264024A>T	ENST00000296543.5	+	5	770	c.447A>T	c.(445-447)gcA>gcT	p.A149A	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Silent_p.A149A	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	149					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CGCAGAGAGCATCATGGATTG	0.343													12	52					0	0	0	0	T	140264024	A	T	140264024	2	4	352	1	0	0	0	0	0	0	0	1	10188	204	8	5		5	NAA15	4	140264024	Silent	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	20070872	140264024	50890252	37	66321											
FAT1	2195	broad.mit.edu	37	chr4	187530348	187530348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacttaccgtttctcggtCgagaagtttggtcactttga	7	16	9	9	3	3	2	2	1	1	1	5	3	3	2	1	2	1	2	1	2	2	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:187530348C>A	ENST00000441802.2	-	16	10404	c.10195G>T	c.(10195-10197)Gac>Tac	p.D3399Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3399	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTTCTCGGTCGAGAAGTTTG	0.448										HNSCC(5;0.00058)			9	20					9.70103e-10	1.10604e-09	1	0	A	187530348	C	A	187530348	3	1	352	1	0	0	0	0	1	0	0	0	5734	884	31	3	3619	3	FAT1	4	187530348	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	47266324	187530348	3623928	38	66322											
CTNND2	1501	broad.mit.edu	37	chr5	10981948	10981948	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatacaaagttgaaattccAgtgttttgagctaaaagcaa	16	12	7	6	0	0	2	0	2	0	0	1	2	1	2	1	0	3	4	1	0	7	7			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:10981948A>C	ENST00000304623.8	-	21	3543	c.3354T>G	c.(3352-3354)acT>acG	p.T1118T	CTNND2_ENST00000511377.1_Silent_p.T1027T|CTNND2_ENST00000503622.1_Silent_p.T781T|CTNND2_ENST00000359640.2_Silent_p.T1060T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.T685T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1118					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTGAAATTCCAGTGTTTTGAG	0.348													17	68					0	0	0	0	C	10981948	A	C	10981948	2	2	352	1	0	0	0	0	0	0	0	1	4052	175	7	5		5	CTNND2	5	10981948	Silent	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08		10981948	169933312	39	66323											
P4HA2	8974	broad.mit.edu	37	chr5	131531174	131531174	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttctacatcactcatCtggaaatataagacatagag	15	10	6	10	0	4	2	2	0	2	2	4	3	4	3	1	1	2	1	1	1	5	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:131531174C>A	ENST00000401867.1	-	14	1940		c.e14-1		P4HA2_ENST00000360568.3_Splice_Site|P4HA2_ENST00000166534.4_Splice_Site|P4HA2_ENST00000379100.2_Splice_Site|P4HA2_ENST00000379104.2_Splice_Site|P4HA2_ENST00000379086.1_Splice_Site			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II							endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CATCACTCATCTGGAAATATA	0.488													5	32					4.096e-09	4.61122e-09	1	0	A	131531174	C	A	131531174	5	1	352	1	0	0	0	0	0	0	1	0	11428	927	32	2	248	2	P4HA2	5	131531174	Splice_Site	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	120549226	131531174	49384086	40	66324											
FAT2	2196	broad.mit.edu	37	chr5	150947521	150947522	+	Frame_Shift_Del	DEL	CT	CT	-																															aggttgaacccatgaaggtaCtccatccagttgatgtcttt																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:150947521_150947522delCT	ENST00000261800.5	-	1	983_984	c.971_972delAG	c.(970-972)gfs	p.E324fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	324					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATGAAGGTACTCCATCCAGTT	0.505													30	124	---	---	---	---					-	150947522	CT	-	150947521	7	5	352	1	0	1	0	1	0	0	0	0	5735	564	20	0	12169	0	FAT2	5	150947521	Frame_Shift_Del	DEL	CT	TCGA-CV-A6JU-01A-11D-A31L-08	19416347	150947521	29967739	41	66325											
GABRA1	2554	broad.mit.edu	37	chr5	161302606	161302606	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccgatgcatttggaggacTtccctatggatgcccatgct	7	12	11	11	1	0	0	0	0	0	0	2	4	2	3	3	3	3	2	3	3	1	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:161302606T>G	ENST00000428797.2	+	7	872	c.517T>G	c.(517-519)Ttc>Gtc	p.F173V	GABRA1_ENST00000023897.6_Missense_Mutation_p.F173V|GABRA1_ENST00000393943.4_Missense_Mutation_p.F173V|GABRA1_ENST00000420560.1_Missense_Mutation_p.F173V|GABRA1_ENST00000437025.2_Missense_Mutation_p.F173V|GABRA1_ENST00000444819.1_Missense_Mutation_p.F173V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	173					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TTTGGAGGACTTCCCTATGGA	0.378													23	72					0	0	0	0	G	161302606	T	G	161302606	3	3	352	1	0	0	0	0	1	0	0	0	6208	1609	56	5	535	5	GABRA1	5	161302606	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	10355085	161302606	19612654	42	66326											
NSD1	64324	broad.mit.edu	37	chr5	176707765	176707766	+	Frame_Shift_Ins	INS	-	-	T																															tgcttttccaagcgccaataINStccagaggttgaaattttcc																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:176707765_176707766insT	ENST00000439151.2	+	18	5867_5868	c.5822_5823insT	c.(5821-5823)tccfs	p.S1941fs	NSD1_ENST00000361032.4_Frame_Shift_Ins_p.S1838fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.S1672fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.S1672fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1941	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGCGCCAATATCCAGAGGTTG	0.465			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			14	50	---	---	---	---					T	176707766	-	T	176707765	7	5	352	1	0	1	1	0	0	0	0	0	10740	449	16	0	5888	0	NSD1	5	176707765	Frame_Shift_Ins	INS	-	TCGA-CV-A6JU-01A-11D-A31L-08	15405159	176707765	4207495	43	66327											
COL23A1	91522	broad.mit.edu	37	chr5	177715332	177715332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgacaaattaccgggtagCcatctcgtcctgattgcccc	10	10	8	13	2	1	2	0	2	1	0	3	2	2	2	5	1	3	1	5	1	4	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:177715332C>T	ENST00000390654.3	-	5	791	c.434G>A	c.(433-435)gGc>gAc	p.G145D	COL23A1_ENST00000407622.1_Intron	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	145	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TACCGGGTAGCCATCTCGTCC	0.418													48	134					0	0	0	0	T	177715332	C	T	177715332	3	4	352	1	0	0	0	0	1	0	0	0	3712	739	26	4	1288	4	COL23A1	5	177715332	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	1007567	177715332	3199928	44	66328											
HIST1H2AK	8330	broad.mit.edu	37	chr6	27805970	27805970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacaccgccgccaggtacaCcggcgctccggcaccgaccc	8	2	10	21	6	0	0	0	0	0	0	1	1	1	0	7	3	2	3	7	3	2	1	rs142211266		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:27805970C>T	ENST00000330180.2	-	1	147	c.148G>A	c.(148-150)Gtg>Atg	p.V50M		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	50					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						GCCAGGTACACCGGCGCTCCG	0.662													19	116					0	0	0	0	T	27805970	C	T	27805970	3	4	352	1	0	0	0	0	1	0	0	0	7187	507	18	4	248	4	HIST1H2AK	6	27805970	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08		27805970	143309097	45	66329											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860923	27860923	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccctgcttgccacgtccaGacatggtaaaacgacctgtg	9	8	10	14	3	0	1	0	0	0	1	1	2	1	1	4	1	3	2	4	1	2	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:27860923G>C	ENST00000359611.2	-	1	40	c.5C>G	c.(4-6)tCt>tGt	p.S2C		NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	2					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						GCCACGTCCAGACATGGTAAA	0.572													5	67					0	0	0	0	C	27860923	G	C	27860923	3	2	352	1	0	0	0	0	1	0	0	0	7189	942	33	2	391	2	HIST1H2AM	6	27860923	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	54953	27860923	143254144	46	66330											
BRPF3	27154	broad.mit.edu	37	chr6	36169027	36169027	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaccgtgttcttggaacctAttgagggcattgacaatatc	11	12	9	9	1	1	2	0	2	1	0	2	3	1	3	2	2	1	2	2	2	4	6			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:36169027A>G	ENST00000357641.6	+	2	1181	c.928A>G	c.(928-930)Att>Gtt	p.I310V	BRPF3_ENST00000339717.7_Missense_Mutation_p.I310V|BRPF3_ENST00000534694.1_Missense_Mutation_p.I310V|BRPF3_ENST00000543502.1_Missense_Mutation_p.I310V|BRPF3_ENST00000534400.1_Missense_Mutation_p.I310V|BRPF3_ENST00000443324.2_Missense_Mutation_p.I310V	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	310					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTTGGAACCTATTGAGGGCAT	0.532													12	85					0	0	0	0	G	36169027	A	G	36169027	3	3	352	1	0	0	0	0	1	0	0	0	1529	449	16	5	930	5	BRPF3	6	36169027	Missense_Mutation	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	8308104	36169027	134946040	47	66331											
DNAH8	1769	broad.mit.edu	37	chr6	38793961	38793961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattggccttatccatcgagGccaaggcatggaagatgtta	12	10	11	8	1	0	1	0	0	0	1	2	3	1	2	3	4	0	2	3	4	5	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:38793961G>A	ENST00000359357.3	+	27	3480	c.3226G>A	c.(3226-3228)Gcc>Acc	p.A1076T	DNAH8_ENST00000449981.2_Missense_Mutation_p.A1293T|DNAH8_ENST00000441566.1_Missense_Mutation_p.A1076T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCCATCGAGGCCAAGGCATG	0.328													10	29					0	0	0	0	A	38793961	G	A	38793961	3	1	352	1	0	0	0	0	1	0	0	0	4643	1203	42	4	3324	4	DNAH8	6	38793961	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	2624934	38793961	132321106	48	66332											
DNAH8	1769	broad.mit.edu	37	chr6	38939413	38939413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggacaagaagtacatgctcGaaagctgattcagatgtcaa	16	8	10	7	1	2	3	2	1	0	2	3	5	2	4	0	1	3	3	0	1	5	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:38939413G>C	ENST00000359357.3	+	81	12100	c.11846G>C	c.(11845-11847)cGa>cCa	p.R3949P	DNAH8_ENST00000449981.2_Missense_Mutation_p.R4166P|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3913P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTACATGCTCGAAAGCTGATT	0.413													14	54					0	0	0	0	C	38939413	G	C	38939413	3	2	352	1	0	0	0	0	1	0	0	0	4643	1058	37	3	12160	3	DNAH8	6	38939413	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	145452	38939413	132175654	49	66333											
DST	667	broad.mit.edu	37	chr6	56482206	56482206	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgcatatcatactgcttgTtcttagctatctgtaacagg	10	16	7	8	0	3	0	1	0	2	0	3	0	3	0	0	1	5	5	0	1	6	8			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:56482206T>C	ENST00000370765.6	-	24	6166	c.6059A>G	c.(6058-6060)aAc>aGc	p.N2020S	DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1423					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATACTGCTTGTTCTTAGCTAT	0.348													30	124					0	0	0	0	C	56482206	T	C	56482206	3	2	352	1	0	0	0	0	1	0	0	0	4819	1725	60	5	14340	5	DST	6	56482206	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	17542793	56482206	114632861	50	66334											
GABRR1	2569	broad.mit.edu	37	chr6	89891711	89891711	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagggtagcggggaaataagTttggagcaagaagaagaaga	17	5	16	3	1	0	4	0	0	0	4	0	6	0	6	0	4	2	3	0	4	7	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:89891711T>A	ENST00000435811.1	-	7	1265	c.811A>T	c.(811-813)Act>Tct	p.T271S	GABRR1_ENST00000454853.2_Missense_Mutation_p.T288S|GABRR1_ENST00000369451.3_Missense_Mutation_p.T201S	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	288					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GGGAAATAAGTTTGGAGCAAG	0.512													30	97					0	0	0	0	A	89891711	T	A	89891711	3	1	352	1	0	0	0	0	1	0	0	0	6224	1725	60	5	589	5	GABRR1	6	89891711	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	33409505	89891711	81223356	51	66335											
C6orf203	51250	broad.mit.edu	37	chr6	107361060	107361061	+	Frame_Shift_Ins	INS	-	-	T																															tccgagggacaccttcatcaINStacaaactctgtacttcctg																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:107361060_107361061insT	ENST00000443043.1	+	3	786_787	c.111_112insT	c.(109-114)tcacaafs	p.Q38fs	C6orf203_ENST00000405204.2_Frame_Shift_Ins_p.Q33fs|C6orf203_ENST00000311381.5_Frame_Shift_Ins_p.Q33fs	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	33										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		CACCTTCATCATACAAACTCTG	0.411													26	76	---	---	---	---					T	107361061	-	T	107361060	7	5	352	1	0	1	1	0	0	0	0	0	2373	204	8	0	117	0	C6orf203	6	107361060	Frame_Shift_Ins	INS	-	TCGA-CV-A6JU-01A-11D-A31L-08	17469349	107361060	63754007	52	66336											
FSCN1	6624	broad.mit.edu	37	chr7	5632884	5632885	+	Frame_Shift_Ins	INS	-	-	G																															cgctggtcgctgcagtccgaINSggcgcaccggcgctacttcg																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:5632884_5632885insG	ENST00000382361.3	+	1	431_432	c.317_318insG	c.(316-318)ggcfs	p.G106fs	FSCN1_ENST00000340250.6_Frame_Shift_Ins_p.G85fs	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	106					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CTGCAGTCCGAGGCGCACCGGC	0.698													8	13	---	---	---	---					G	5632885	-	G	5632884	7	5	352	1	0	1	1	0	0	0	0	0	6115	304	11	0	319	0	FSCN1	7	5632884	Frame_Shift_Ins	INS	-	TCGA-CV-A6JU-01A-11D-A31L-08		5632884	153505779	53	66337											
PCLO	27445	broad.mit.edu	37	chr7	82595769	82595769	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcctgatattgctctcTgggtttggcaatttaaacaa	9	15	9	8	0	1	1	0	1	1	0	3	1	2	1	1	2	2	4	1	2	5	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:82595769T>A	ENST00000423517.2	-	4	3672	c.3335A>T	c.(3334-3336)cAg>cTg	p.Q1112L	PCLO_ENST00000333891.8_Missense_Mutation_p.Q1112L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1051					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATTGCTCTCTGGGTTTGGCA	0.388													20	61					0	0	0	0	A	82595769	T	A	82595769	3	1	352	1	0	0	0	0	1	0	0	0	11654	1580	55	5	12198	5	PCLO	7	82595769	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	76962885	82595769	76542894	54	66338											
SEMA3E	9723	broad.mit.edu	37	chr7	83119453	83119453	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatagccgtcactgattcTctccaagctgagggaatata	11	13	8	9	1	2	2	1	2	1	0	4	3	3	3	2	1	2	1	2	1	6	6			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:83119453T>A	ENST00000307792.3	-	2	720	c.253A>T	c.(253-255)Aga>Tga	p.R85*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R25*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	85	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCACTGATTCTCTCCAAGCTG	0.403													10	50					0	0	0	0	A	83119453	T	A	83119453	4	1	352	1	0	0	0	0	0	1	0	0	14115	1559	54	5	2138	5	SEMA3E	7	83119453	Nonsense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	523684	83119453	76019210	55	66339											
C7orf63	79846	broad.mit.edu	37	chr7	89909017	89909017	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgatggcaaagttattttGgctttgtttacctatgttaa	10	19	8	4	0	0	1	0	1	0	0	0	1	0	1	1	2	1	5	1	2	5	9			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:89909017G>C	ENST00000389297.4	+	12	1433	c.1182G>C	c.(1180-1182)ttG>ttC	p.L394F	C7orf63_ENST00000316089.8_Missense_Mutation_p.L394F|C7orf63_ENST00000497910.1_Missense_Mutation_p.L376F	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	394							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AAGTTATTTTGGCTTTGTTTA	0.323											OREG0003793	type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	37					0	0	0	0	C	89909017	G	C	89909017	3	2	352	1	0	0	0	0	1	0	0	0	2432	1339	47	4	1228	4	C7orf63	7	89909017	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	6789564	89909017	69229646	56	66340											
PDK4	5166	broad.mit.edu	37	chr7	95222162	95222162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgattggtgactgggtcaaCtgtacaggcatctttatact	9	15	10	7	0	2	2	1	2	1	0	2	2	2	2	0	3	3	2	0	3	4	6			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:95222162C>A	ENST00000005178.5	-	4	636	c.439G>T	c.(439-441)Gtt>Ttt	p.V147F		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	147	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ACTGGGTCAACTGTACAGGCA	0.388													15	49					7.93312e-07	8.60623e-07	1	0	A	95222162	C	A	95222162	3	1	352	1	0	0	0	0	1	0	0	0	11749	565	20	4	828	4	PDK4	7	95222162	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	5313145	95222162	63916501	57	66341											
SSPO	23145	broad.mit.edu	37	chr7	149497458	149497458	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgctgggctgcgtggaaCaggcgcaggtgtgtgatggc	6	8	20	7	2	0	1	0	1	0	0	0	2	0	2	0	6	3	3	0	6	1	0			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:149497458C>A	ENST00000378016.2	+	0	7216							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCGTGGAACAGGCGCAGGT	0.687													12	29					2.31682e-05	2.46852e-05	1	0	A	149497458	C	A	149497458	1	1	352	0	1	0	0	0	0	0	0	0	15279	479	17	4		4	SSPO	7	149497458	RNA	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	54275296	149497458	9641205	58	66342											
PXDNL	137902	broad.mit.edu	37	chr8	52321748	52321748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgtgtggtccaagtcGtgctctagaaaccagcccca	9	8	11	13	1	1	1	0	0	1	1	3	1	2	1	4	2	3	2	4	2	3	1			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr8:52321748G>A	ENST00000356297.4	-	17	2536	c.2436C>T	c.(2434-2436)caC>caT	p.H812H	PXDNL_ENST00000543296.1_Silent_p.H812H	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	812					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTCCAAGTCGTGCTCTAGAA	0.677													3	16					0	0	0	0	A	52321748	G	A	52321748	2	1	352	1	0	0	0	0	0	0	0	1	12930	1136	40	1		1	PXDNL	8	52321748	Silent	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08		52321748	94042274	59	66343											
CSMD3	114788	broad.mit.edu	37	chr8	113237011	113237011	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcctcgttataccattgTgcaaaccgtgttcaagttgg	8	14	10	9	2	1	0	1	0	0	0	2	0	1	0	3	1	4	5	3	1	4	6			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr8:113237011T>G	ENST00000297405.5	-	71	11357	c.11113A>C	c.(11113-11115)Aca>Cca	p.T3705P	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3635P|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3536P|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3665P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3705						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATACCATTGTGCAAACCGTG	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			63	88					0	0	0	0	G	113237011	T	G	113237011	3	3	352	1	0	0	0	0	1	0	0	0	3978	1696	59	5	14	5	CSMD3	8	113237011	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	60915263	113237011	33127011	60	66344											
PTPRD	5789	broad.mit.edu	37	chr9	8518352	8518352	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagaaacaggctcagggtTcccagagtcccacgtcagtg	12	7	11	11	1	2	2	2	0	0	2	4	2	4	2	2	2	1	2	2	2	2	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr9:8518352T>C	ENST00000381196.4	-	18	1582	c.1039A>G	c.(1039-1041)Aac>Gac	p.N347D	PTPRD_ENST00000358503.5_Missense_Mutation_p.N334D|PTPRD_ENST00000486161.1_Missense_Mutation_p.N347D|PTPRD_ENST00000356435.5_Missense_Mutation_p.N347D|PTPRD_ENST00000397606.3_Missense_Mutation_p.N337D|PTPRD_ENST00000397617.3_Missense_Mutation_p.N337D|PTPRD_ENST00000397611.3_Missense_Mutation_p.N344D|PTPRD_ENST00000355233.5_Missense_Mutation_p.N347D|PTPRD_ENST00000537002.1_Missense_Mutation_p.N344D|PTPRD_ENST00000540109.1_Missense_Mutation_p.N347D|PTPRD_ENST00000360074.4_Missense_Mutation_p.N334D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	347	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGCTCAGGGTTCCCAGAGTCC	0.468										TSP Lung(15;0.13)			15	70					0	0	0	0	C	8518352	T	C	8518352	3	2	352	1	0	0	0	0	1	0	0	0	12881	1783	62	5	4871	5	PTPRD	9	8518352	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08		8518352	132695079	61	66345											
UBE2R2	54926	broad.mit.edu	37	chr9	33900204	33900204	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttcgattcttcatccGcctgtagatgacccacagag	9	12	8	12	2	2	3	1	1	1	2	4	4	3	3	3	0	1	2	3	0	1	4			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr9:33900204G>T	ENST00000263228.3	+	3	488	c.297G>T	c.(295-297)ccG>ccT	p.P99P		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	99					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		TTCTTCATCCGCCTGTAGATG	0.398													7	56					0.000274275	0.000287107	1	0	T	33900204	G	T	33900204	2	4	352	1	0	0	0	0	0	0	0	1	16967	1074	38	3		3	UBE2R2	9	33900204	Silent	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	25381852	33900204	107313227	62	66346											
SPTAN1	6709	broad.mit.edu	37	chr9	131343203	131343203	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctatgcccccaagctGaccgtcctttccgaggagag	7	9	10	15	2	1	2	0	1	1	1	4	4	3	2	6	1	2	1	6	1	2	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr9:131343203G>T	ENST00000372739.3	+	11	1436	c.1326G>T	c.(1324-1326)ctG>ctT	p.L442L	SPTAN1_ENST00000372731.4_Silent_p.L442L|SPTAN1_ENST00000358161.5_Silent_p.L442L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	442					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCCCCAAGCTGACCGTCCTTT	0.592													12	40					2.61681e-11	3.022e-11	1	0	T	131343203	G	T	131343203	2	4	352	1	0	0	0	0	0	0	0	1	15207	1277	45	2		2	SPTAN1	9	131343203	Silent	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	97442999	131343203	9870228	63	66347											
GATA3	2625	broad.mit.edu	37	chr10	8100553	8100553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaggctcggccggctcggCccggcaggacgagaaagagt	8	3	16	14	5	0	2	0	0	0	2	2	4	0	3	3	6	0	3	3	6	1	0	rs145577748		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:8100553C>A	ENST00000379328.3	+	3	1095	c.527C>A	c.(526-528)gCc>gAc	p.A176D	GATA3_ENST00000346208.3_Missense_Mutation_p.A176D|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	176					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCCGGCTCGGCCCGGCAGGAC	0.706			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						82	99					4.02937e-33	4.90651e-33	1	0	A	8100553	C	A	8100553	3	1	352	1	0	0	0	0	1	0	0	0	6304	739	26	4	533	4	GATA3	10	8100553	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08		8100553	127434194	64	66348											
SVIL	6840	broad.mit.edu	37	chr10	29812476	29812476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagtttccttgtgcattcaTtttagccatggaaaattcct	10	16	6	9	0	1	0	1	0	0	0	3	1	3	1	3	1	2	2	3	1	4	6			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:29812476T>C	ENST00000375398.2	-	17	3516	c.3067A>G	c.(3067-3069)Atg>Gtg	p.M1023V	SVIL_ENST00000355867.4_Missense_Mutation_p.M1023V|SVIL_ENST00000375400.3_Missense_Mutation_p.M597V			O95425	SVIL_HUMAN	supervillin	1023					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGTGCATTCATTTTAGCCATG	0.478													15	70					0	0	0	0	C	29812476	T	C	29812476	3	2	352	1	0	0	0	0	1	0	0	0	15511	1493	52	5	3673	5	SVIL	10	29812476	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	21711923	29812476	105722271	65	66349											
CCDC7	221016	broad.mit.edu	37	chr10	32740647	32740647	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaactactaaaaaaggacTacataatttaccattatcac	19	12	2	8	0	1	0	1	0	0	0	1	1	1	1	1	1	4	0	1	1	9	8			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:32740647T>C	ENST00000545067.1	+	2	373	c.77T>C	c.(76-78)cTa>cCa	p.L26P	CCDC7_ENST00000362006.5_Missense_Mutation_p.L26P|CCDC7_ENST00000539197.1_Missense_Mutation_p.L26P|CCDC7_ENST00000537047.1_Missense_Mutation_p.L26P|CCDC7_ENST00000277657.6_Missense_Mutation_p.L26P|CCDC7_ENST00000535327.1_Missense_Mutation_p.L26P			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	26										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AAAAAAGGACTACATAATTTA	0.348													3	64					0	0	0	0	C	32740647	T	C	32740647	3	2	352	1	0	0	0	0	1	0	0	0	2869	1522	53	5	79	5	CCDC7	10	32740647	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	2928171	32740647	102794100	66	66350											
A1CF	29974	broad.mit.edu	37	chr10	52573711	52573712	+	Frame_Shift_Ins	INS	-	-	T																															gtcatagagtttgtcttctcINSttttgtctcctttgacctgg																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:52573711_52573712insT	ENST00000395489.2	-	12	1627_1628	c.1231_1232insA	c.(1231-1233)agafs	p.R411fs	A1CF_ENST00000373993.1_Frame_Shift_Ins_p.R418fs|A1CF_ENST00000373995.3_Frame_Shift_Ins_p.R418fs|A1CF_ENST00000395495.1_Frame_Shift_Ins_p.R363fs|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.R410fs|A1CF_ENST00000282641.2_Frame_Shift_Ins_p.R418fs|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Frame_Shift_Ins_p.R410fs|A1CF_ENST00000493415.1_5'UTR	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	418					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTGTCTTCTCTTTTGTCTCCT	0.515													17	96	---	---	---	---					T	52573712	-	T	52573711	7	5	352	1	0	1	1	0	0	0	0	0	2	913	32	0	547	0	A1CF	10	52573711	Frame_Shift_Ins	INS	-	TCGA-CV-A6JU-01A-11D-A31L-08	19833064	52573711	82961036	67	66351											
RUFY2	55680	broad.mit.edu	37	chr10	70141059	70141059	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtcgaaggcctatcagaGtatcttgtttctcatggata	9	15	10	7	1	3	1	2	0	2	1	5	3	3	2	1	2	0	3	1	2	4	6			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:70141059G>C	ENST00000388768.2	-	11	1468	c.1142C>G	c.(1141-1143)aCt>aGt	p.T381S	RUFY2_ENST00000602465.1_Missense_Mutation_p.T346S|RUFY2_ENST00000399200.2_Missense_Mutation_p.T312S|RUFY2_ENST00000454950.2_Missense_Mutation_p.T288S|RUFY2_ENST00000472394.2_5'UTR	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	395						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCCTATCAGAGTATCTTGTTT	0.363													17	86					0	0	0	0	C	70141059	G	C	70141059	3	2	352	1	0	0	0	0	1	0	0	0	13824	1029	36	4	928	4	RUFY2	10	70141059	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	17567348	70141059	65393688	68	66352											
LDB3	11155	broad.mit.edu	37	chr10	88466305	88466305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcacccctattgagcatgCgccggtgtgcaccagccagg	8	6	12	15	2	0	1	0	1	0	0	0	1	0	1	5	2	5	3	5	2	1	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:88466305C>T	ENST00000361373.4	+	7	935	c.914C>T	c.(913-915)gCg>gTg	p.A305V	LDB3_ENST00000429277.2_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Intron	NM_007078.2	NP_009009.1	O75112	LDB3_HUMAN	LIM domain binding 3	305						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						ATTGAGCATGCGCCGGTGTGC	0.667													72	259					0	0	0	0	T	88466305	C	T	88466305	3	4	352	1	0	0	0	0	1	0	0	0	8750	768	27	1	1276	1	LDB3	10	88466305	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	18325246	88466305	47068442	69	66353											
FAM35A	54537	broad.mit.edu	37	chr10	88912464	88912465	+	Frame_Shift_Ins	INS	-	-	T																															tagtcatggtgctatctccaINStgccatgtgaaggaaataaa																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:88912464_88912465insT	ENST00000298786.4	+	3	1467_1468	c.1353_1354insT	c.(1351-1356)ccgccafs	p.P452fs	FAM35A_ENST00000298784.1_Frame_Shift_Ins_p.P452fs			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	452										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TGCTATCTCCATGCCATGTGAA	0.312													8	16	---	---	---	---					T	88912465	-	T	88912464	7	5	352	1	0	1	1	0	0	0	0	0	5600	204	8	0	1355	0	FAM35A	10	88912464	Frame_Shift_Ins	INS	-	TCGA-CV-A6JU-01A-11D-A31L-08	446159	88912464	46622283	70	66354											
LGI1	9211	broad.mit.edu	37	chr10	95552569	95552569	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaatggcttggccacacCaatgcaactgttgaagacat	12	9	11	9	0	0	2	0	1	0	1	0	3	0	3	2	3	2	3	2	3	4	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:95552569C>A	ENST00000371418.4	+	6	833	c.573C>A	c.(571-573)acC>acA	p.T191T	LGI1_ENST00000542308.1_Silent_p.T143T|LGI1_ENST00000371413.3_Silent_p.T191T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	191	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TTGGCCACACCAATGCAACTG	0.438													29	133					3.73148e-12	4.33724e-12	1	0	A	95552569	C	A	95552569	2	1	352	1	0	0	0	0	0	0	0	1	8805	581	21	4		4	LGI1	10	95552569	Silent	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	6640105	95552569	39982178	71	66355											
MGEA5	10724	broad.mit.edu	37	chr10	103558659	103558659	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctactatttgctcgaagccaTtgaaattcccgtaacatctg	11	13	6	11	2	1	1	0	1	1	0	3	2	2	1	2	0	4	2	2	0	5	6			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:103558659T>G	ENST00000361464.3	-	9	2144	c.1749A>C	c.(1747-1749)caA>caC	p.Q583H	MGEA5_ENST00000439817.1_Missense_Mutation_p.Q530H|MGEA5_ENST00000357797.5_Missense_Mutation_p.Q530H|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000370094.3_Missense_Mutation_p.Q583H	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	583	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTCGAAGCCATTGAAATTCCC	0.453													8	69					0	0	0	0	G	103558659	T	G	103558659	3	3	352	1	0	0	0	0	1	0	0	0	9624	1490	52	5	1033	5	MGEA5	10	103558659	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	8006090	103558659	31976088	72	66356											
TDRD1	56165	broad.mit.edu	37	chr10	115978244	115978244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgttaaagtacattttgtgGattatggaaacatcgaagaa	16	13	9	3	1	0	1	0	0	0	1	1	4	0	3	0	2	2	2	0	2	7	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:115978244G>T	ENST00000251864.2	+	18	2548	c.2395G>T	c.(2395-2397)Gat>Tat	p.D799Y	TDRD1_ENST00000422662.1_Missense_Mutation_p.D403Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D799Y|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369280.1_Missense_Mutation_p.D799Y	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	799	Tudor 3.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACATTTTGTGGATTATGGAAA	0.393													22	76					1.2644e-06	1.36342e-06	1	0	T	115978244	G	T	115978244	3	4	352	1	0	0	0	0	1	0	0	0	15824	1174	41	2	2461	2	TDRD1	10	115978244	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	12419585	115978244	19556503	73	66357											
BCCIP	56647	broad.mit.edu	37	chr10	127512150	127512150	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtccaggtctaagcggcgTgccgtggaaagtggggttcc	6	8	17	10	4	1	0	0	0	1	0	3	1	3	1	3	5	2	1	3	5	2	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:127512150T>A	ENST00000299130.3	+	1	36	c.24T>A	c.(22-24)cgT>cgA	p.R8R	BCCIP_ENST00000278100.6_Silent_p.R8R|BCCIP_ENST00000368759.5_Silent_p.R8R|BCCIP_ENST00000429863.2_Silent_p.R8R	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	8					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTAAGCGGCGTGCCGTGGAAA	0.607													32	184					0	0	0	0	A	127512150	T	A	127512150	2	1	352	1	0	0	0	0	0	0	0	1	1360	1683	59	5		5	BCCIP	10	127512150	Silent	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	11533906	127512150	8022597	74	66358											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651162	1651162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctccggctgtggaggctGtggctctggctgtgggggct	1	11	20	9	1	1	0	0	0	1	0	2	1	2	1	1	8	0	6	1	8	0	0			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:1651162G>T	ENST00000399676.2	+	1	130	c.92G>T	c.(91-93)tGt>tTt	p.C31F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	31				C -> R (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		tgtggaggctgtggctctggc	0.716													4	129					0.150653	0.150653	1	0	T	1651162	G	T	1651162	3	4	352	1	0	0	0	0	1	0	0	0	8617	1377	48	4	94	4	KRTAP5-5	11	1651162	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08		1651162	133355354	75	66359											
OR52I2	143502	broad.mit.edu	37	chr11	4608934	4608934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcctggttggggcaggatGtagtgcccttgcacacccaa	7	8	14	12	1	0	0	0	0	0	0	0	1	0	1	3	5	2	4	3	5	2	3	rs149646629		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:4608934G>A	ENST00000312614.4	+	1	914	c.892G>A	c.(892-894)Gta>Ata	p.V298I		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGGCAGGATGTAGTGCCCTT	0.522													41	112					0	0	0	0	A	4608934	G	A	4608934	3	1	352	1	0	0	0	0	1	0	0	0	11192	1377	48	4	894	4	OR52I2	11	4608934	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	2957772	4608934	130397582	76	66360											
ABCC8	6833	broad.mit.edu	37	chr11	17429971	17429971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcctgtcggttcatgaGggtcttccagtgctcaaaga	7	13	12	9	1	3	2	2	1	1	1	6	2	5	2	2	3	1	2	2	3	1	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:17429971G>T	ENST00000302539.4	-	23	2916	c.2791C>A	c.(2791-2793)Ctc>Atc	p.L931I	ABCC8_ENST00000389817.3_Missense_Mutation_p.L930I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	930					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGGTTCATGAGGGTCTTCCAG	0.537													25	54					3.01185e-09	3.41216e-09	1	0	T	17429971	G	T	17429971	3	4	352	1	0	0	0	0	1	0	0	0	58	1000	35	4	2025	4	ABCC8	11	17429971	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	12821037	17429971	117576545	77	66361											
DAGLA	747	broad.mit.edu	37	chr11	61504723	61504723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgggcactgctgccatcCtctccttccttctgcgccca	3	10	9	19	3	2	0	0	0	2	0	5	0	4	0	5	1	3	2	5	1	0	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:61504723C>T	ENST00000257215.5	+	14	1557	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	481					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGCTGCCATCCTCTCCTTCCT	0.647													60	283					0	0	0	0	T	61504723	C	T	61504723	3	4	352	1	0	0	0	0	1	0	0	0	4259	681	24	4	1491	4	DAGLA	11	61504723	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	44074752	61504723	73501793	78	66362											
FAT3	120114	broad.mit.edu	37	chr11	92523356	92523356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagaggctggaccatgaggCccaggacaagcacattctca	12	5	12	12	1	1	2	1	1	1	1	2	5	1	4	2	4	1	2	2	4	1	1			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:92523356C>T	ENST00000298047.6	+	7	4600	c.4583C>T	c.(4582-4584)gCc>gTc	p.A1528V	FAT3_ENST00000409404.2_Missense_Mutation_p.A1528V|FAT3_ENST00000525166.1_Missense_Mutation_p.A1378V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1528	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACCATGAGGCCCAGGACAAG	0.488										TCGA Ovarian(4;0.039)			19	146					0	0	0	0	T	92523356	C	T	92523356	3	4	352	1	0	0	0	0	1	0	0	0	5736	739	26	4	4609	4	FAT3	11	92523356	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	31018633	92523356	42483160	79	66363											
BCO2	83875	broad.mit.edu	37	chr11	112087036	112087036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggggttattctttctgtgGtgatcactcccaaccaggta	7	14	11	9	0	3	1	1	1	2	0	4	1	4	1	2	4	1	2	2	4	3	4			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:112087036G>A	ENST00000357685.5	+	11	1744	c.1609G>A	c.(1609-1611)Gtg>Atg	p.V537M	BCO2_ENST00000526088.1_Missense_Mutation_p.V497M|BCO2_ENST00000438022.1_Missense_Mutation_p.V503M|BCO2_ENST00000532593.1_Missense_Mutation_p.V432M|BCO2_ENST00000393032.2_Missense_Mutation_p.V503M|BCO2_ENST00000361053.4_Missense_Mutation_p.V464M|BCO2_ENST00000531169.1_Missense_Mutation_p.V503M			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	537					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TCTTTCTGTGGTGATCACTCC	0.433													16	27					0	0	0	0	A	112087036	G	A	112087036	3	1	352	1	0	0	0	0	1	0	0	0	1389	1261	44	4	1651	4	BCO2	11	112087036	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	19563680	112087036	22919480	80	66364											
ZBTB16	7704	broad.mit.edu	37	chr11	114113009	114113009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctgcagtgagtgcaaccGcaccttccccagccacacgg	9	6	9	17	2	1	1	0	1	1	0	2	1	2	1	5	1	4	3	5	1	1	1			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:114113009G>A	ENST00000335953.4	+	5	1954	c.1574G>A	c.(1573-1575)cGc>cAc	p.R525H	ZBTB16_ENST00000392996.2_Missense_Mutation_p.R525H|ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	525					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GAGTGCAACCGCACCTTCCCC	0.632													4	76					0	0	0	0	A	114113009	G	A	114113009	3	1	352	1	0	0	0	0	1	0	0	0	17621	1087	38	1	1588	1	ZBTB16	11	114113009	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	2025973	114113009	20893507	81	66365											
OR6M1	390261	broad.mit.edu	37	chr11	123676227	123676227	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcaggagaggggtcacCactgtgatgaggacagcggc	9	6	18	8	1	2	3	2	2	0	1	2	5	2	4	1	6	1	1	1	6	0	1			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:123676227C>A	ENST00000309154.2	-	1	868	c.831G>T	c.(829-831)gtG>gtT	p.V277V		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GAGGGGTCACCACTGTGATGA	0.473													21	90					3.85864e-22	4.66687e-22	1	0	A	123676227	C	A	123676227	2	1	352	1	0	0	0	0	0	0	0	1	11276	581	21	4		4	OR6M1	11	123676227	Silent	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	9563218	123676227	11330289	82	66366											
OR10S1	219873	broad.mit.edu	37	chr11	123847819	123847819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctttaggacagggggtatgtCgcagaagaagtaggcaatgt	12	9	15	5	1	0	2	0	0	0	2	1	3	0	3	0	4	0	4	0	4	6	4			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:123847819C>G	ENST00000531945.1	-	1	669	c.580G>C	c.(580-582)Gac>Cac	p.D194H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D194N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGGGGTATGTCGCAGAAGAAG	0.567													21	65					0	0	0	0	G	123847819	C	G	123847819	3	3	352	1	0	0	0	0	1	0	0	0	10989	884	31	3	419	3	OR10S1	11	123847819	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	171592	123847819	11158697	83	66367											
GRIN2B	2904	broad.mit.edu	37	chr12	13828685	13828685	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagacatgtcttaccctttcCcacttcctctccttgttcag	7	15	4	15	0	3	1	1	0	2	1	6	1	5	1	4	0	1	1	4	0	2	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:13828685C>T	ENST00000279593.3	-	4	1328	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	373					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTACCCTTTCCCACTTCCTCT	0.413													10	55					0	0	0	0	T	13828685	C	T	13828685	4	4	352	1	0	0	0	0	0	1	0	0	6830	624	22	4	3375	4	GRIN2B	12	13828685	Nonsense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08		13828685	120023210	84	66368											
CCDC91	55297	broad.mit.edu	37	chr12	28702085	28702085	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtgctttaatagctacGgaaccagttgacattgaata	14	13	8	6	1	0	2	0	2	0	0	0	3	0	3	1	1	4	3	1	1	7	8			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:28702085G>A	ENST00000545336.1	+	16	1724	c.1305G>A	c.(1303-1305)acG>acA	p.T435T	CCDC91_ENST00000381259.1_Silent_p.T435T|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Silent_p.T399T|CCDC91_ENST00000381256.1_Silent_p.T399T|CCDC91_ENST00000306172.5_Silent_p.T405T			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	435					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TAATAGCTACGGAACCAGTTG	0.383													15	100					0	0	0	0	A	28702085	G	A	28702085	2	1	352	1	0	0	0	0	0	0	0	1	2897	1103	39	1		1	CCDC91	12	28702085	Silent	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	14873400	28702085	105149810	85	66369											
SLC38A4	55089	broad.mit.edu	37	chr12	47172111	47172112	+	Frame_Shift_Ins	INS	-	-	A																															gggaaggacctcagggtggcINSatacaaaagcaaatactagg																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:47172111_47172112insA	ENST00000447411.1	-	11	1239_1240	c.1033_1034insT	c.(1033-1035)ccafs	p.P345fs	SLC38A4_ENST00000266579.4_Frame_Shift_Ins_p.P345fs	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	345					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTCAGGGTGGCATACAAAAGCA	0.406													14	73	---	---	---	---					A	47172112	-	A	47172111	7	5	352	1	0	1	1	0	0	0	0	0	14694	710	25	0	633	0	SLC38A4	12	47172111	Frame_Shift_Ins	INS	-	TCGA-CV-A6JU-01A-11D-A31L-08	18470026	47172111	86679784	86	66370											
KRT86	3892	broad.mit.edu	37	chr12	52699156	52699156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacattgtcacccgtagcCgggctgaggccgagtcctgg	7	8	14	12	3	1	2	1	2	0	0	2	3	2	2	4	3	1	2	4	3	1	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:52699156C>T	ENST00000293525.5	+	5	920	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	KRT86_ENST00000423955.2_Missense_Mutation_p.R290W|KRT86_ENST00000544024.1_Missense_Mutation_p.R290W	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	290	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACCCGTAGCCGGGCTGAGGC	0.547													13	56					0	0	0	0	T	52699156	C	T	52699156	3	4	352	1	0	0	0	0	1	0	0	0	8552	643	23	1	886	1	KRT86	12	52699156	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	5527045	52699156	81152739	87	66371											
IGFBP6	3489	broad.mit.edu	37	chr12	53495921	53495921	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccagatggcaatggaagCtcctcctgccccactgggag	8	8	11	14	0	1	1	0	0	1	1	4	3	3	3	5	3	2	2	5	3	2	0			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:53495921C>T	ENST00000548547.1	+	4	969	c.687C>T	c.(685-687)agC>agT	p.S229S	IGFBP6_ENST00000549628.1_3'UTR|IGFBP6_ENST00000301464.3_Silent_p.S231S			P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	231	Thyroglobulin type-1.				negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GCAATGGAAGCTCCTCCTGCC	0.622													15	38					0	0	0	0	T	53495921	C	T	53495921	2	4	352	1	0	0	0	0	0	0	0	1	7636	796	28	4		4	IGFBP6	12	53495921	Silent	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	796765	53495921	80355974	88	66372											
NACA	4666	broad.mit.edu	37	chr12	57113701	57113701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaggggctccttcaagaGaggcaggtacagtttggagg	12	7	16	6	0	1	2	1	0	0	2	2	4	2	3	1	6	1	4	1	6	3	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:57113701G>A	ENST00000454682.1	-	3	1894	c.1613C>T	c.(1612-1614)tCt>tTt	p.S538F	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S538F|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	12					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCCTTCAAGAGAGGCAGGTAC	0.493			T	BCL6	NHL								14	48					0	0	0	0	A	57113701	G	A	57113701	3	1	352	1	0	0	0	0	1	0	0	0	10203	942	33	2	4651	2	NACA	12	57113701	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	3617780	57113701	76738194	89	66373											
FGD6	55785	broad.mit.edu	37	chr12	95603235	95603235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgcacttttccacatccaTagcagataacgattttgctc	11	13	6	11	1	0	1	0	0	0	1	3	2	2	1	2	0	4	3	2	0	2	6			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:95603235T>C	ENST00000343958.4	-	2	2048	c.1825A>G	c.(1825-1827)Atg>Gtg	p.M609V	FGD6_ENST00000549499.1_Missense_Mutation_p.M609V|FGD6_ENST00000546711.1_Missense_Mutation_p.M609V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	609					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCCACATCCATAGCAGATAAC	0.418													39	140					0	0	0	0	C	95603235	T	C	95603235	3	2	352	1	0	0	0	0	1	0	0	0	5882	1406	49	5	2547	5	FGD6	12	95603235	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	38489534	95603235	38248660	90	66374											
ARPC3	10094	broad.mit.edu	37	chr12	110874930	110874930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagaaatgtagagagttaTatatatcaaggtcctatcag	15	13	8	5	0	3	2	3	0	0	2	4	3	4	2	1	1	0	2	1	1	8	7			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:110874930T>C	ENST00000228825.7	-	4	357	c.211A>G	c.(211-213)Ata>Gta	p.I71V	RP11-478C19.2_ENST00000550231.1_RNA	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN	actin related protein 2/3 complex, subunit 3, 21kDa	71					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			lung(1)|ovary(1)	2						TAGAGAGTTATATATATCAAG	0.333													4	42					0	0	0	0	C	110874930	T	C	110874930	3	2	352	1	0	0	0	0	1	0	0	0	976	1406	49	5	341	5	ARPC3	12	110874930	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	15271695	110874930	22976965	91	66375											
ATXN2	6311	broad.mit.edu	37	chr12	111893958	111893958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgactgcgtgttggaggcagGtgtcatggagggtggagttg	6	10	20	5	2	1	0	1	0	0	0	1	4	1	3	0	6	1	3	0	6	0	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:111893958G>A	ENST00000377617.3	-	23	3780	c.3619C>T	c.(3619-3621)Cct>Tct	p.P1207S	ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000389153.4_Missense_Mutation_p.P944S|ATXN2_ENST00000542287.2_Missense_Mutation_p.P942S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P900S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1207					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTGGAGGCAGGTGTCATGGAG	0.592													50	226					0	0	0	0	A	111893958	G	A	111893958	3	1	352	1	0	0	0	0	1	0	0	0	1215	1261	44	4	334	4	ATXN2	12	111893958	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	1019028	111893958	21957937	92	66376											
CIT	11113	broad.mit.edu	37	chr12	120262979	120262981	+	In_Frame_Del	DEL	ATA	ATA	-																															gactctttacctggaaattcAtaatgttattgaaggttctg																								rs149407793	by1000genomes	TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:120262979_120262981delATA	ENST00000392521.2	-	8	1000_1002	c.945_947delTAT	c.(943-948)atg>at	p.IM315del	CIT_ENST00000261833.7_In_Frame_Del_p.IM315del	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	315	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGGAAATTCATAATGTTATTGA	0.463													19	82	---	---	---	---					-	120262981	ATA	-	120262979	7	5	352	1	0	1	0	1	0	0	0	0	3468	217	8	0	5296	0	CIT	12	120262979	In_Frame_Del	DEL	ATA	TCGA-CV-A6JU-01A-11D-A31L-08	8369021	120262979	13588916	93	66377											
KNTC1	9735	broad.mit.edu	37	chr12	123067338	123067338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcacattaaagctcaCgaagttgcacaggcgaaaca	16	5	10	10	2	1	0	1	0	0	0	1	3	1	0	0	1	5	5	0	1	4	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:123067338C>T	ENST00000333479.7	+	34	3246	c.3069C>T	c.(3067-3069)caC>caT	p.H1023H	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1023					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTAAAGCTCACGAAGTTGCAC	0.493													5	25					0	0	0	0	T	123067338	C	T	123067338	2	4	352	1	0	0	0	0	0	0	0	1	8480	535	19	1		1	KNTC1	12	123067338	Silent	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	2804359	123067338	10784557	94	66378											
ENOX1	55068	broad.mit.edu	37	chr13	43986996	43986996	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttacctgcagccatcatctGaggaagctcctggggaagct	9	10	11	11	0	2	1	1	1	1	0	3	3	3	3	3	3	5	3	3	3	3	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr13:43986996G>A	ENST00000261488.6	-	4	632	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	ENOX1_ENST00000412891.1_Nonsense_Mutation_p.Q19*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	19					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCCATCATCTGAGGAAGCTCC	0.483													14	78					0	0	0	0	A	43986996	G	A	43986996	4	1	352	1	0	0	0	0	0	1	0	0	5164	1299	45	2	1932	2	ENOX1	13	43986996	Nonsense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08		43986996	71182882	95	66379											
CLYBL	171425	broad.mit.edu	37	chr13	100518604	100518604	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggtgtacattgactttCgagatggagctgggctgctt	7	14	13	7	1	1	2	0	1	1	1	2	4	1	3	0	3	3	4	0	3	1	4			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr13:100518604C>A	ENST00000376355.3	+	5	674	c.643C>A	c.(643-645)Cga>Aga	p.R215R	CLYBL_ENST00000444838.2_Silent_p.R215R|CLYBL_ENST00000376354.1_Silent_p.R215R|CLYBL_ENST00000376360.1_Silent_p.R249R|CLYBL_ENST00000339105.4_Silent_p.R249R	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	249					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATTGACTTTCGAGATGGAGC	0.468													30	87					8.4185e-14	9.97955e-14	1	0	A	100518604	C	A	100518604	2	1	352	1	0	0	0	0	0	0	0	1	3603	876	31	3		3	CLYBL	13	100518604	Silent	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	56531608	100518604	14651274	96	66380											
F7	2155	broad.mit.edu	37	chr13	113773012	113773012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggtcctcaacgtgccccGgctgatgacccaggactgcc	7	7	11	16	2	1	2	1	2	0	0	2	3	2	3	5	3	3	1	5	3	1	0	rs121964926	byFrequency	TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr13:113773012G>A	ENST00000375581.3	+	9	1126	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	F7_ENST00000541084.1_Missense_Mutation_p.R295Q|F7_ENST00000346342.3_Missense_Mutation_p.R342Q	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	364	Peptidase S1.		R -> Q (in FA7D; Harrow/Padua).|R -> W (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AACGTGCCCCGGCTGATGACC	0.637													6	37					0	0	0	0	A	113773012	G	A	113773012	3	1	352	1	0	0	0	0	1	0	0	0	5387	1116	39	1	1125	1	F7	13	113773012	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	13254408	113773012	1396866	97	66381											
LRP10	26020	broad.mit.edu	37	chr14	23345929	23345930	+	Frame_Shift_Ins	INS	-	-	A																															cctctcccggatggaggctgINSagattgtgcagcagcaggca																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:23345929_23345930insA	ENST00000359591.4	+	6	2147_2148	c.1456_1457insA	c.(1456-1458)gatfs	p.D486fs	LRP10_ENST00000546834.1_Frame_Shift_Ins_p.D486fs|LRP10_ENST00000470660.1_3'UTR	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	486					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GATGGAGGCTGAGATTGTGCAG	0.559													17	92	---	---	---	---					A	23345930	-	A	23345929	7	5	352	1	0	1	1	0	0	0	0	0	9016	1291	45	0	1478	0	LRP10	14	23345929	Frame_Shift_Ins	INS	-	TCGA-CV-A6JU-01A-11D-A31L-08		23345929	84003611	98	66382											
DHRS2	10202	broad.mit.edu	37	chr14	24113650	24113650	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaatgtcagcaagacagcGctgctgggtctcactagaac	12	8	10	11	1	2	2	2	0	1	2	3	2	2	2	0	1	5	3	0	1	5	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:24113650G>A	ENST00000250383.6	+	7	1049	c.573G>A	c.(571-573)gcG>gcA	p.A191A	DHRS2_ENST00000344777.7_Silent_p.A191A	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	169					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GCAAGACAGCGCTGCTGGGTC	0.512													22	104					0	0	0	0	A	24113650	G	A	24113650	2	1	352	1	0	0	0	0	0	0	0	1	4527	1074	38	1		1	DHRS2	14	24113650	Silent	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	767721	24113650	83235890	99	66383											
REC8	9985	broad.mit.edu	37	chr14	24641964	24641964	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggttggtgaagcgcgaataCctgagggtgaatgtggtgaa	10	9	17	5	3	0	4	0	4	0	0	0	5	0	4	1	4	2	1	1	4	5	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:24641964C>T	ENST00000311457.3	+	3	698	c.99C>T	c.(97-99)taC>taT	p.Y33Y	REC8_ENST00000559919.1_Silent_p.Y33Y			O95072	REC8_HUMAN	REC8 meiotic recombination protein	33					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		AGCGCGAATACCTGAGGGTGA	0.637													14	57					0	0	0	0	T	24641964	C	T	24641964	2	4	352	1	0	0	0	0	0	0	0	1	13281	518	18	4		4	REC8	14	24641964	Silent	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	528314	24641964	82707576	100	66384											
SSTR1	6751	broad.mit.edu	37	chr14	38679517	38679517	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgccacggtgagtcagctgtCggtcatcctcggctatgcca	6	9	12	14	4	2	1	2	1	0	0	5	1	3	1	3	3	2	2	3	3	1	1			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:38679517C>G	ENST00000267377.2	+	3	1540	c.923C>G	c.(922-924)tCg>tGg	p.S308W		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	308					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	AGTCAGCTGTCGGTCATCCTC	0.552													24	87					0	0	0	0	G	38679517	C	G	38679517	3	3	352	1	0	0	0	0	1	0	0	0	15287	893	31	3	925	3	SSTR1	14	38679517	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	14037553	38679517	68670023	101	66385											
PAPOLA	10914	broad.mit.edu	37	chr14	97031283	97031299	+	Splice_Site	DEL	CATTCTCAGAAAACATC	CATTCTCAGAAAACATC	-																															aatgttgtgttctttgctttCattctcagaaaacatccagt																								rs79835114		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:97031283_97031299delCATTCTCAGAAAACATC	ENST00000216277.8	+	22	2362_2370	c.2142_splice	c.e22-1	p.Q714_splice	PAPOLA_ENST00000392990.2_Splice_Site_p.Q693_splice	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	714	Required for interaction with NUDT21.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCTTTGCTTTCATTCTCAGAAAACATCCAGTACAGAC	0.346													8	76	---	---	---	---					-	97031299	CATTCTCAGAAAACATC	-	97031283	8	5	352	1	0	1	0	1	0	0	1	0	11500	841	29	0		0	PAPOLA	14	97031283	Splice_Site	DEL	CATTCTCAGAAAACATC	TCGA-CV-A6JU-01A-11D-A31L-08	58351766	97031283	10318257	102	66386											
DYNC1H1	1778	broad.mit.edu	37	chr14	102470995	102470995	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggataactctgttgttttggGtatttcatctcgggaaggag	8	15	13	5	1	3	0	1	0	2	0	4	3	3	3	0	4	1	3	0	4	3	6			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:102470995G>C	ENST00000360184.4	+	24	5188	c.5024G>C	c.(5023-5025)gGt>gCt	p.G1675A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1675	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTTGTTTTGGGTATTTCATCT	0.353													6	38					0	0	0	0	C	102470995	G	C	102470995	3	2	352	1	0	0	0	0	1	0	0	0	4877	1261	44	4	5118	4	DYNC1H1	14	102470995	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	5439712	102470995	4878545	103	66387											
CYFIP1	23191	broad.mit.edu	37	chr15	22933783	22933783	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaagtgatttctggctaCgaagagctcctggcagatat	10	11	11	9	2	1	3	0	1	1	2	3	5	2	3	1	2	2	3	1	2	4	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:22933783C>T	ENST00000313077.7	+	8	827	c.702C>T	c.(700-702)taC>taT	p.Y234Y	CYFIP1_ENST00000560848.1_Silent_p.Y234Y	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	234					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TTTCTGGCTACGAAGAGCTCC	0.527													40	129					0	0	0	0	T	22933783	C	T	22933783	2	4	352	1	0	0	0	0	0	0	0	1	4169	547	19	1		1	CYFIP1	15	22933783	Silent	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08		22933783	79597609	104	66388											
ATP10A	57194	broad.mit.edu	37	chr15	25953436	25953436	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctttttttgatgcctccCtctggcgtcaactaggttgg	6	16	9	10	1	3	1	1	1	2	0	4	1	4	1	2	3	2	1	2	3	3	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:25953436C>G	ENST00000356865.6	-	11	2467	c.2356G>C	c.(2356-2358)Ggg>Cgg	p.G786R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	786					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGATGCCTCCCTCTGGCGTCA	0.512													16	67					0	0	0	0	G	25953436	C	G	25953436	3	3	352	1	0	0	0	0	1	0	0	0	1120	681	24	4	2187	4	ATP10A	15	25953436	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	3019653	25953436	76577956	105	66389											
OCA2	4948	broad.mit.edu	37	chr15	28261263	28261263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactcacctggtcagtacctCaaaggtcctgctcatcactg	10	10	7	14	0	5	0	5	0	0	0	6	0	6	0	3	2	3	2	3	2	3	1			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:28261263C>G	ENST00000354638.3	-	8	1032	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	OCA2_ENST00000353809.5_Missense_Mutation_p.E293Q|OCA2_ENST00000382996.2_Missense_Mutation_p.E293Q	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	293					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTCAGTACCTCAAAGGTCCTG	0.502									Oculocutaneous Albinism				11	43					0	0	0	0	G	28261263	C	G	28261263	3	3	352	1	0	0	0	0	1	0	0	0	10886	835	29	2	1707	2	OCA2	15	28261263	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	2307827	28261263	74270129	106	66390											
SEMA6D	80031	broad.mit.edu	37	chr15	48062700	48062700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgtctatttcaggtgtacGatgggaagtccagtctggag	8	13	14	6	1	3	0	1	0	2	0	4	3	4	2	1	3	1	1	1	3	3	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:48062700G>A	ENST00000316364.5	+	19	2379	c.1940G>A	c.(1939-1941)cGa>cAa	p.R647Q	SEMA6D_ENST00000536845.2_Missense_Mutation_p.R647Q|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R585Q|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R591Q|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R604Q|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R585Q|SEMA6D_ENST00000355997.3_Missense_Mutation_p.D584N|SEMA6D_ENST00000558816.1_Missense_Mutation_p.D584N|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R585Q|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R628Q|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R572Q	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	647					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCAGGTGTACGATGGGAAGTC	0.423													11	84					0	0	0	0	A	48062700	G	A	48062700	3	1	352	1	0	0	0	0	1	0	0	0	14129	1058	37	1	2053	1	SEMA6D	15	48062700	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	19801437	48062700	54468692	107	66391											
MYO5A	4644	broad.mit.edu	37	chr15	52668694	52668694	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctctcaatttttctagaTaggccacttgaccggcacgg	9	11	9	12	2	2	2	1	1	2	1	3	2	2	2	2	3	1	2	2	3	3	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:52668694T>A	ENST00000399231.3	-	19	2513	c.2270A>T	c.(2269-2271)tAt>tTt	p.Y757F	MYO5A_ENST00000358212.6_Missense_Mutation_p.Y757F|MYO5A_ENST00000356338.6_Missense_Mutation_p.Y757F|MYO5A_ENST00000399233.2_Missense_Mutation_p.Y757F|MYO5A_ENST00000553916.1_Missense_Mutation_p.Y757F	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	757	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTTTTCTAGATAGGCCACTTG	0.438													14	50					0	0	0	0	A	52668694	T	A	52668694	3	1	352	1	0	0	0	0	1	0	0	0	10148	1406	49	5	3389	5	MYO5A	15	52668694	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	4605994	52668694	49862698	108	66392											
UNC13C	440279	broad.mit.edu	37	chr15	54435232	54435232	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatagcagttctgtggatGaaaaggttttaaatcatact	14	13	9	5	0	2	2	1	1	1	1	2	3	2	3	0	2	2	3	0	2	6	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:54435232G>T	ENST00000537900.1	+	2	3001	c.3001G>T	c.(3001-3003)Gaa>Taa	p.E1001*	UNC13C_ENST00000545554.1_Intron|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E1001*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1001					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCTGTGGATGAAAAGGTTTT	0.323													11	58					0.000978159	0.00101797	1	0	T	54435232	G	T	54435232	4	4	352	1	0	0	0	0	0	1	0	0	17082	1291	45	2	3007	2	UNC13C	15	54435232	Nonsense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	1766538	54435232	48096160	109	66393											
GRIN2A	2903	broad.mit.edu	37	chr16	10032121	10032121	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaatgagaacagcctcGtctttggaacagtagagcaa	14	8	10	9	1	2	3	1	1	1	3	3	5	2	4	1	1	4	2	1	1	5	2	rs150208429		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr16:10032121G>A	ENST00000396573.2	-	4	1011	c.702C>T	c.(700-702)gaC>gaT	p.D234D	GRIN2A_ENST00000535259.1_Silent_p.D77D|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000330684.3_Silent_p.D234D|GRIN2A_ENST00000404927.2_Silent_p.D234D|GRIN2A_ENST00000396575.2_Silent_p.D234D|GRIN2A_ENST00000562109.1_Silent_p.D234D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	234					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAACAGCCTCGTCTTTGGAAC	0.507													13	71					0	0	0	0	A	10032121	G	A	10032121	2	1	352	1	0	0	0	0	0	0	0	1	6829	1136	40	1		1	GRIN2A	16	10032121	Silent	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08		10032121	80322632	110	66394											
CDH16	1014	broad.mit.edu	37	chr16	66945907	66945907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctctcctggtccaacttgGggggtggcatcactctctcc	5	11	11	14	0	3	0	1	0	2	0	7	0	5	0	3	5	2	2	3	5	1	1			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr16:66945907G>A	ENST00000299752.4	-	13	1878	c.1685C>T	c.(1684-1686)cCc>cTc	p.P562L	CDH16_ENST00000394055.3_Missense_Mutation_p.P562L|CDH16_ENST00000568632.1_Missense_Mutation_p.P465L|CDH16_ENST00000565796.1_Missense_Mutation_p.P562L|CDH16_ENST00000570262.1_Missense_Mutation_p.P482L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	562	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCCAACTTGGGGGGTGGCAT	0.662													43	100					0	0	0	0	A	66945907	G	A	66945907	3	1	352	1	0	0	0	0	1	0	0	0	3130	1232	43	4	828	4	CDH16	16	66945907	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	56913786	66945907	23408846	111	66395											
TEKT1	83659	broad.mit.edu	37	chr17	6719166	6719166	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcataccgaatctgctcggAagcctcctccaaggtacggg	9	8	11	13	3	2	0	1	0	1	0	5	2	4	1	4	3	4	2	4	3	5	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:6719166A>T	ENST00000338694.2	-	4	601	c.472T>A	c.(472-474)Tcc>Acc	p.S158T	TEKT1_ENST00000535086.1_Missense_Mutation_p.S12T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	158					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ATCTGCTCGGAAGCCTCCTCC	0.537													10	28					0	0	0	0	T	6719166	A	T	6719166	3	4	352	1	0	0	0	0	1	0	0	0	15846	246	9	5	804	5	TEKT1	17	6719166	Missense_Mutation	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08		6719166	74476044	112	66396											
C17orf74	201243	broad.mit.edu	37	chr17	7330595	7330595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtcccccattcctcccagCcctggcccaaagtccaggct	6	8	8	19	0	0	0	0	0	0	0	4	0	4	0	7	3	1	1	7	3	1	1			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:7330595C>T	ENST00000333870.3	+	3	1359	c.1285C>T	c.(1285-1287)Ccc>Tcc	p.P429S	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	429						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				TTCCTCCCAGCCCTGGCCCAA	0.642													13	41					0	0	0	0	T	7330595	C	T	7330595	3	4	352	1	0	0	0	0	1	0	0	0	1895	739	26	4	1295	4	C17orf74	17	7330595	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	611429	7330595	73864615	113	66397											
TP53	7157	broad.mit.edu	37	chr17	7578176	7578176	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccccagttgcaaaccagaCctcaggcggctcatagggca	11	5	11	14	1	2	1	2	0	0	1	2	2	2	1	4	3	2	4	4	3	2	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:7578176C>A	ENST00000420246.2	-	6	805		c.e6+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAACCAGACCTCAGGCGGC	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	22					0.0293803	0.0297123	1	0	A	7578176	C	A	7578176	5	1	352	1	0	0	0	0	0	0	1	0	16476	521	18	4	621	4	TP53	17	7578176	Splice_Site	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	247581	7578176	73617034	114	66398											
MYH13	8735	broad.mit.edu	37	chr17	10258301	10258301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacgtcactctggattttTctaacagatctaaggtaaca	14	12	7	8	1	4	1	1	0	3	1	4	3	4	2	0	2	3	1	0	2	4	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:10258301T>C	ENST00000418404.3	-	9	975	c.812A>G	c.(811-813)gAa>gGa	p.E271G	MYH13_ENST00000570743.1_Missense_Mutation_p.E271G|MYH13_ENST00000252172.4_Missense_Mutation_p.E271G			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	271	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTGGATTTTTCTAACAGATC	0.373													5	25					0	0	0	0	C	10258301	T	C	10258301	3	2	352	1	0	0	0	0	1	0	0	0	10102	1783	62	5	5132	5	MYH13	17	10258301	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	2680125	10258301	70936909	115	66399											
NF1	4763	broad.mit.edu	37	chr17	29663706	29663706	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgcttatctccaactccTactttagaacaacatcttat	13	14	2	12	0	2	1	0	0	2	1	4	1	3	1	2	0	5	1	2	0	7	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:29663706T>C	ENST00000358273.4	+	42	6584	c.6201T>C	c.(6199-6201)ccT>ccC	p.P2067P	NF1_ENST00000356175.3_Silent_p.P2046P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2067					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTCCAACTCCTACTTTAGAAC	0.363			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	30					0	0	0	0	C	29663706	T	C	29663706	2	2	352	1	0	0	0	0	0	0	0	1	10426	1509	53	5		5	NF1	17	29663706	Silent	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	19405405	29663706	51531504	116	66400											
KRT26	353288	broad.mit.edu	37	chr17	38922789	38922789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggtgctttagaaggtactCgttgctctactgtaatgttg	8	16	11	6	1	1	1	0	0	1	1	2	1	1	1	0	2	4	6	0	2	5	7			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:38922789C>T	ENST00000335552.4	-	8	1433	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	462	Tail.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AGAAGGTACTCGTTGCTCTAC	0.383													13	56					0	0	0	0	T	38922789	C	T	38922789	3	4	352	1	0	0	0	0	1	0	0	0	8515	884	31	1	25	1	KRT26	17	38922789	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	9259083	38922789	42272421	117	66401											
KRT12	3859	broad.mit.edu	37	chr17	39021183	39021183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccattgatgtcggcctctaCgccctggcgcagggccagtt	5	9	13	14	3	1	1	0	1	1	0	2	1	1	1	4	3	1	2	4	3	1	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:39021183C>T	ENST00000251643.4	-	3	705	c.682G>A	c.(682-684)Gta>Ata	p.V228I		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	228	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TCGGCCTCTACGCCCTGGCGC	0.572													21	74					0	0	0	0	T	39021183	C	T	39021183	3	4	352	1	0	0	0	0	1	0	0	0	8501	536	19	1	826	1	KRT12	17	39021183	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	98394	39021183	42174027	118	66402											
MYL4	4635	broad.mit.edu	37	chr17	45299149	45299149	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggacttcgtggagggcCtgcgtgtctttgacaaggag	8	10	16	7	2	1	2	0	2	1	0	2	5	1	5	1	4	1	0	1	4	1	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:45299149C>G	ENST00000354968.1	+	5	543	c.415C>G	c.(415-417)Ctg>Gtg	p.L139V	MYL4_ENST00000393450.1_Missense_Mutation_p.L139V|MYL4_ENST00000572316.1_Missense_Mutation_p.L139V	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	139	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CGTGGAGGGCCTGCGTGTCTT	0.567													23	71					0	0	0	0	G	45299149	C	G	45299149	3	3	352	1	0	0	0	0	1	0	0	0	10119	680	24	4	429	4	MYL4	17	45299149	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	6277966	45299149	35896061	119	66403											
CSH1	1442	broad.mit.edu	37	chr17	61972422	61972422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagagcggcactgcaccAtgcgcaggaatgtctcgacc	10	5	11	15	3	1	1	0	0	1	1	2	3	1	2	3	2	3	3	3	2	1	0	rs17854931		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:61972422A>G	ENST00000316193.8	-	5	755	c.614T>C	c.(613-615)aTg>aCg	p.M205T	CSH1_ENST00000453363.3_Missense_Mutation_p.M110T|CSH1_ENST00000329882.8_3'UTR	NM_001317.5	NP_001308.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	205					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GCACTGCACCATGCGCAGGAA	0.587									Russell-Silver syndrome				23	104					0	0	0	0	G	61972422	A	G	61972422	3	3	352	1	0	0	0	0	1	0	0	0	3972	217	8	5	43	5	CSH1	17	61972422	Missense_Mutation	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	16673273	61972422	19222788	120	66404											
GNA13	10672	broad.mit.edu	37	chr17	63010657	63010657	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaagaacagaattatggaGacattgctgaaaacccggtt	15	11	9	6	1	0	4	0	1	0	3	0	5	0	4	1	2	3	2	1	2	6	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:63010657G>A	ENST00000439174.2	-	4	1097	c.852C>T	c.(850-852)gtC>gtT	p.V284V	GNA13_ENST00000541118.1_Silent_p.V189V	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	284					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GAATTATGGAGACATTGCTGA	0.408													26	86					0	0	0	0	A	63010657	G	A	63010657	2	1	352	1	0	0	0	0	0	0	0	1	6552	929	33	2		2	GNA13	17	63010657	Silent	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	1038235	63010657	18184553	121	66405											
ABCA6	23460	broad.mit.edu	37	chr17	67081772	67081772	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttcctcactacctctccAgcagttggctttgtgatccc	6	14	6	15	0	2	1	1	1	1	0	5	1	4	1	4	1	2	3	4	1	1	4			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:67081772A>T	ENST00000284425.2	-	31	4197	c.4023T>A	c.(4021-4023)gcT>gcA	p.A1341A	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1341	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTACCTCTCCAGCAGTTGGCT	0.348													8	34					0	0	0	0	T	67081772	A	T	67081772	2	4	352	1	0	0	0	0	0	0	0	1	36	175	7	5		5	ABCA6	17	67081772	Silent	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	4071115	67081772	14113438	122	66406											
EPB41L3	23136	broad.mit.edu	37	chr18	5438039	5438039	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaactttcaaatacctggtGatatcttcagatagttgggc	11	13	8	9	0	3	2	2	1	1	1	3	2	3	2	2	2	2	1	2	2	5	6			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr18:5438039G>A	ENST00000341928.2	-	6	940	c.600C>T	c.(598-600)atC>atT	p.I200I	EPB41L3_ENST00000540638.2_Silent_p.I200I|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Silent_p.I200I|EPB41L3_ENST00000544123.1_Silent_p.I200I|EPB41L3_ENST00000342933.3_Silent_p.I200I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	200	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AATACCTGGTGATATCTTCAG	0.408													9	36					0	0	0	0	A	5438039	G	A	5438039	2	1	352	1	0	0	0	0	0	0	0	1	5192	1280	45	2		2	EPB41L3	18	5438039	Silent	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08		5438039	72639209	123	66407											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60051996	60051996	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccccgcaggaaatgtgactgGaaacagtaactccacgttca	13	7	9	12	2	1	1	1	1	0	0	2	3	2	3	3	2	2	3	3	2	3	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr18:60051996G>C	ENST00000586569.1	+	10	1618	c.1580G>C	c.(1579-1581)gGa>gCa	p.G527A	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.G210A	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	527					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AATGTGACTGGAAACAGTAAC	0.627													4	14					0	0	0	0	C	60051996	G	C	60051996	3	2	352	1	0	0	0	0	1	0	0	0	16378	1174	41	2	1618	2	TNFRSF11A	18	60051996	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	54613957	60051996	18025252	124	66408											
ARID3A	1820	broad.mit.edu	37	chr19	929709	929709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcgggctcagatggccGcactggcagccatgcgggct	6	6	16	13	3	1	1	1	0	0	1	1	1	1	1	2	4	4	5	2	4	0	0			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:929709G>A	ENST00000263620.3	+	2	508	c.181G>A	c.(181-183)Gca>Aca	p.A61T		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	61						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		TCAGATGGCCGCACTGGCAGC	0.771													4	10					0	0	0	0	A	929709	G	A	929709	3	1	352	1	0	0	0	0	1	0	0	0	918	1087	38	1	183	1	ARID3A	19	929709	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08		929709	58199274	125	66409											
C3	718	broad.mit.edu	37	chr19	6702151	6702151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcacctttcttgtccgaCatgctcacagccagaatctc	8	12	5	16	1	4	1	2	0	3	1	7	2	5	1	3	0	2	1	3	0	1	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:6702151C>T	ENST00000245907.6	-	19	2519	c.2427G>A	c.(2425-2427)atG>atA	p.M809I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	809					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCTTGTCCGACATGCTCACAG	0.498													15	52					0	0	0	0	T	6702151	C	T	6702151	3	4	352	1	0	0	0	0	1	0	0	0	2224	478	17	4	2656	4	C3	19	6702151	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	5772442	6702151	52426832	126	66410											
XAB2	56949	broad.mit.edu	37	chr19	7689197	7689197	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggctcaccctcctcctcGcgccccagctccgaggcggt	5	6	11	19	4	1	1	1	0	0	1	5	2	4	1	6	3	1	2	6	3	0	0			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:7689197G>A	ENST00000358368.4	-	7	994	c.957C>T	c.(955-957)cgC>cgT	p.R319R	XAB2_ENST00000534844.1_Silent_p.R316R	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	319					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCTCCTCCTCGCGCCCCAGCT	0.642								Direct reversal of damage;Nucleotide excision repair (NER)					19	115					0	0	0	0	A	7689197	G	A	7689197	2	1	352	1	0	0	0	0	0	0	0	1	17514	1074	38	1		1	XAB2	19	7689197	Silent	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	987046	7689197	51439786	127	66411											
CD209	30835	broad.mit.edu	37	chr19	7810657	7810657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtagatctcctgcatCttagatttctctggaagctc	7	15	8	11	0	3	2	0	0	3	2	7	3	4	3	2	2	2	3	2	2	3	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:7810657C>A	ENST00000315599.7	-	4	517	c.495G>T	c.(493-495)aaG>aaT	p.K165N	CD209_ENST00000204801.8_Missense_Mutation_p.K121N|CD209_ENST00000601951.1_Missense_Mutation_p.K141N|CD209_ENST00000601256.1_Missense_Mutation_p.K141N|CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.K141N|CD209_ENST00000394173.4_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.K141N|CD209_ENST00000354397.6_Missense_Mutation_p.K165N|CD209_ENST00000301357.8_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	165	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTCCTGCATCTTAGATTTCT	0.552													6	230					0.00198382	0.00205262	1	0	A	7810657	C	A	7810657	3	1	352	1	0	0	0	0	1	0	0	0	3013	912	32	2	735	2	CD209	19	7810657	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	121460	7810657	51318326	128	66412											
KEAP1	9817	broad.mit.edu	37	chr19	10610334	10610335	+	Frame_Shift_Ins	INS	-	-	A																															accttggggtggataccctcINSaatggacaccacctccatgc																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:10610334_10610335insA	ENST00000171111.5	-	2	922_923	c.375_376insT	c.(373-378)atagggfs	p.G126fs	KEAP1_ENST00000393623.2_Frame_Shift_Ins_p.G126fs	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	126	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TGGATACCCTCAATGGACACCA	0.594													13	57	---	---	---	---					A	10610335	-	A	10610334	7	5	352	1	0	1	1	0	0	0	0	0	8193	835	29	0	1518	0	KEAP1	19	10610334	Frame_Shift_Ins	INS	-	TCGA-CV-A6JU-01A-11D-A31L-08	2799677	10610334	48518649	129	66413											
NOTCH3	4854	broad.mit.edu	37	chr19	15276206	15276207	+	Frame_Shift_Ins	INS	-	-	A																															tccacagcattgacatcagcINSatggctggcgatgagctctt																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:15276206_15276207insA	ENST00000263388.2	-	31	5862_5863	c.5787_5788insT	c.(5785-5790)cactgafs	p.*1930fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1930					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TTGACATCAGCATGGCTGGCGA	0.574													11	81	---	---	---	---					A	15276207	-	A	15276206	7	5	352	1	0	1	1	0	0	0	0	0	10620	710	25	0	1189	0	NOTCH3	19	15276206	Frame_Shift_Ins	INS	-	TCGA-CV-A6JU-01A-11D-A31L-08	4665872	15276206	43852777	130	66414											
PGPEP1	54858	broad.mit.edu	37	chr19	18468195	18468195	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgtctgtgtgcagctGgtggtgcatgtgggggtgtc	2	12	18	9	0	1	0	0	0	1	0	2	0	1	0	2	4	3	3	2	4	0	0			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:18468195G>C	ENST00000269919.5	+	4	302	c.207G>C	c.(205-207)ctG>ctC	p.L69L	PGPEP1_ENST00000604499.1_Silent_p.L69L|PGPEP1_ENST00000252813.5_5'UTR|PGPEP1_ENST00000595552.1_Intron|PGPEP1_ENST00000595066.1_Silent_p.L69L	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	69							cysteine-type peptidase activity										GTGTGCAGCTGGTGGTGCATG	0.592													7	24					0	0	0	0	C	18468195	G	C	18468195	2	2	352	1	0	0	0	0	0	0	0	1	11875	1335	47	4		4	PGPEP1	19	18468195	Silent	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	3191989	18468195	40660788	131	66415											
CHST8	64377	broad.mit.edu	37	chr19	34180193	34180193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgacctggaacaatgcGgctggcctgcatgttctctt	6	11	11	13	2	1	0	0	0	1	0	2	2	1	1	3	3	4	3	3	3	2	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:34180193G>A	ENST00000262622.3	+	2	784	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	CHST8_ENST00000438847.2_Missense_Mutation_p.R9Q|CHST8_ENST00000604556.1_Missense_Mutation_p.R9Q|CHST8_ENST00000434302.1_Missense_Mutation_p.R9Q	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	9					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.R9Q(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GGAACAATGCGGCTGGCCTGC	0.642													19	103					0	0	0	0	A	34180193	G	A	34180193	3	1	352	1	0	0	0	0	1	0	0	0	3439	1116	39	1	28	1	CHST8	19	34180193	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	15711998	34180193	24948790	132	66416											
ZNF234	10780	broad.mit.edu	37	chr19	44661768	44661768	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctaacccatcagagagtTcacagtggggaaaaaccatt	14	9	8	10	0	3	1	2	0	1	1	3	3	3	2	2	2	2	1	2	2	3	4			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:44661768T>C	ENST00000426739.2	+	6	1857	c.1599T>C	c.(1597-1599)gtT>gtC	p.V533V	ZNF234_ENST00000592437.1_Silent_p.V533V	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				ATCAGAGAGTTCACAGTGGGG	0.463													26	98					0	0	0	0	C	44661768	T	C	44661768	2	2	352	1	0	0	0	0	0	0	0	1	17882	1770	62	5		5	ZNF234	19	44661768	Silent	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	10481575	44661768	14467215	133	66417											
IRF2BP1	26145	broad.mit.edu	37	chr19	46388616	46388616	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acggcctcctcacggcccagCccattggccaggcgggaccc	6	4	12	19	3	1	0	1	0	0	0	2	1	2	1	6	5	1	0	6	5	0	1			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:46388616C>T	ENST00000302165.3	-	1	760	c.417G>A	c.(415-417)ggG>ggA	p.G139G		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CACGGCCCAGCCCATTGGCCA	0.701													7	26					0	0	0	0	T	46388616	C	T	46388616	2	4	352	1	0	0	0	0	0	0	0	1	7882	726	26	4		4	IRF2BP1	19	46388616	Silent	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	1726848	46388616	12740367	134	66418											
PLEKHA4	57664	broad.mit.edu	37	chr19	49341311	49341311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcgacgcctcagtagcCagggcttgggagaggctgag	8	6	16	11	2	1	2	1	1	0	1	1	4	1	2	2	3	2	3	2	3	1	2	rs142246074		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:49341311C>T	ENST00000355496.5	-	16	2121	c.1744G>A	c.(1744-1746)Ggc>Agc	p.G582S	PLEKHA4_ENST00000263265.6_Silent_p.L680L	NM_001161354.1	NP_001154826.1	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	0						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCTCAGTAGCCAGGGCTTGGG	0.557													18	103					0	0	0	0	T	49341311	C	T	49341311	3	4	352	1	0	0	0	0	1	0	0	0	12130	594	21	4	307	4	PLEKHA4	19	49341311	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	2952695	49341311	9787672	135	66419											
ZNF677	342926	broad.mit.edu	37	chr19	53740266	53740266	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttttgtctcattatattTgatatgtttttctctattat	9	25	3	4	0	2	1	1	1	2	0	4	1	2	1	0	0	0	1	0	0	6	10			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:53740266T>G	ENST00000333952.4	-	5	1879	c.1714A>C	c.(1714-1716)Aaa>Caa	p.K572Q	ZNF677_ENST00000598513.1_Missense_Mutation_p.K572Q			Q86XU0	ZN677_HUMAN	zinc finger protein 677	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TCATTATATTTGATATGTTTT	0.294													4	16					0	0	0	0	G	53740266	T	G	53740266	3	3	352	1	0	0	0	0	1	0	0	0	18179	1821	63	5	44	5	ZNF677	19	53740266	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	4398955	53740266	5388717	136	66420											
LILRB4	11006	broad.mit.edu	37	chr19	55175417	55175417	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccatgacagaggactaTgcagggagataccgctgtta	12	8	11	10	1	0	3	0	1	0	2	1	5	1	4	3	2	2	3	3	2	3	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:55175417T>G	ENST00000391736.1	+	5	591	c.276T>G	c.(274-276)taT>taG	p.Y92*	LILRB4_ENST00000391734.3_Nonsense_Mutation_p.Y92*|LILRB4_ENST00000430952.2_Nonsense_Mutation_p.Y92*|LILRB4_ENST00000391733.3_Nonsense_Mutation_p.Y92*|LILRB4_ENST00000270452.2_Nonsense_Mutation_p.Y92*	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	92	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CAGAGGACTATGCAGGGAGAT	0.572													34	209					0	0	0	0	G	55175417	T	G	55175417	4	3	352	1	0	0	0	0	0	1	0	0	8847	1471	51	5	286	5	LILRB4	19	55175417	Nonsense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	1435151	55175417	3953566	137	66421											
PTPRH	5794	broad.mit.edu	37	chr19	55708511	55708511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgcacagaggctctgcgtgGaactggctacgtcattcctc	8	9	11	13	3	2	1	1	0	1	1	4	2	3	2	1	3	3	3	1	3	2	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:55708511G>T	ENST00000376350.3	-	9	1986	c.1964C>A	c.(1963-1965)tCc>tAc	p.S655Y	PTPRH_ENST00000263434.5_Missense_Mutation_p.S477Y|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	655	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCTCTGCGTGGAACTGGCTAC	0.552													17	38					3.99206e-14	4.76385e-14	1	0	T	55708511	G	T	55708511	3	4	352	1	0	0	0	0	1	0	0	0	12885	1174	41	2	1431	2	PTPRH	19	55708511	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	533094	55708511	3420472	138	66422											
A1BG	1	broad.mit.edu	37	chr19	58863848	58863848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcagcacacctcggcaCactgctgttgttttcaggcc	6	9	9	17	2	1	0	1	0	0	0	2	0	1	0	4	2	2	6	4	2	0	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:58863848C>T	ENST00000263100.3	-	4	475	c.414G>A	c.(412-414)gtG>gtA	p.V138V	CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	138	Ig-like V-type 2.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CACCTCGGCACACTGCTGTTG	0.627													49	193					0	0	0	0	T	58863848	C	T	58863848	2	4	352	1	0	0	0	0	0	0	0	1	1	465	17	4		4	A1BG	19	58863848	Silent	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	3155337	58863848	265135	139	66423											
RBCK1	10616	broad.mit.edu	37	chr20	398246	398246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcgccctgatatgacagtgGcgtctctcaaggacatggtg	8	10	13	10	2	2	2	1	2	1	0	3	3	2	3	1	3	1	0	1	3	2	1			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:398246G>A	ENST00000356286.5	+	3	949	c.244G>A	c.(244-246)Gcg>Acg	p.A82T	RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Missense_Mutation_p.A40T	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	82	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TATGACAGTGGCGTCTCTCAA	0.607													8	74					0	0	0	0	A	398246	G	A	398246	3	1	352	1	0	0	0	0	1	0	0	0	13189	1203	42	4	273	4	RBCK1	20	398246	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08		398246	62627274	140	66424											
CPXM1	56265	broad.mit.edu	37	chr20	2776663	2776663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgtagtaagtgggcaatgGcaggtgatggttggggacga	9	9	20	3	1	0	1	0	1	0	0	0	3	0	2	0	7	0	5	0	7	3	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:2776663G>A	ENST00000380605.2	-	10	1451	c.1387C>T	c.(1387-1389)Cca>Tca	p.P463S		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	463					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTGGGCAATGGCAGGTGATGG	0.572													19	122					0	0	0	0	A	2776663	G	A	2776663	3	1	352	1	0	0	0	0	1	0	0	0	3867	1203	42	4	837	4	CPXM1	20	2776663	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	2378417	2776663	60248857	141	66425											
SEL1L2	80343	broad.mit.edu	37	chr20	13839998	13839998	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgcaatgctgtagtgTgtggctgctgtttgatagtc	5	16	14	6	0	0	1	0	1	0	0	1	1	0	1	0	2	3	7	0	2	3	4			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:13839998T>C	ENST00000284951.5	-	18	1802	c.1728A>G	c.(1726-1728)acA>acG	p.T576T	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	576						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TGCTGTAGTGTGTGGCTGCTG	0.403													9	42					0	0	0	0	C	13839998	T	C	13839998	2	2	352	1	0	0	0	0	0	0	0	1	14098	1683	59	5		5	SEL1L2	20	13839998	Silent	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	11063335	13839998	49185522	142	66426											
XKR7	343702	broad.mit.edu	37	chr20	30585199	30585199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcacctgccacgccccGgttgcagtaccggagtgtgg	5	8	12	16	3	1	0	1	0	0	0	2	1	2	1	6	3	3	3	6	3	1	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:30585199G>A	ENST00000217299.3	+	3	1853	c.1679G>A	c.(1678-1680)cGg>cAg	p.R560Q		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	560						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCCACGCCCCGGTTGCAGTAC	0.592													23	89					0	0	0	0	A	30585199	G	A	30585199	3	1	352	1	0	0	0	0	1	0	0	0	17532	1116	39	1	1689	1	XKR7	20	30585199	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	16745201	30585199	32440321	143	66427											
FAM65C	140876	broad.mit.edu	37	chr20	49204343	49204343	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgccactttttaccgaaCgacagtgtggtttcccgggc	6	13	11	11	3	0	0	0	0	0	0	1	2	1	0	3	2	3	1	3	2	2	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:49204343C>A	ENST00000327979.2	-	21	3147	c.2736G>T	c.(2734-2736)tcG>tcT	p.S912S	FAM65C_ENST00000535356.1_Silent_p.S916S|FAM65C_ENST00000045083.2_Silent_p.S912S|FAM65C_ENST00000462842.1_5'UTR			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	912										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTTACCGAACGACAGTGTGG	0.612											OREG0026030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	63					2.27111e-07	2.49404e-07	1	0	A	49204343	C	A	49204343	2	1	352	1	0	0	0	0	0	0	0	1	5647	523	19	3		3	FAM65C	20	49204343	Silent	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	18619144	49204343	13821177	144	66428											
OPRL1	4987	broad.mit.edu	37	chr20	62729634	62729634	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctctccctgcagagatcGagtgcctggtggagatccct	6	12	11	12	1	1	2	0	0	1	2	5	5	3	2	3	2	2	1	3	2	0	1			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:62729634G>T	ENST00000349451.3	+	6	1007	c.595G>T	c.(595-597)Gag>Tag	p.E199*	OPRL1_ENST00000336866.2_Nonsense_Mutation_p.E199*|OPRL1_ENST00000355631.4_Nonsense_Mutation_p.E199*	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	199					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCAGAGATCGAGTGCCTGGT	0.637													15	61					4.7546e-09	5.31921e-09	1	0	T	62729634	G	T	62729634	4	4	352	1	0	0	0	0	0	1	0	0	10957	1059	37	3	605	3	OPRL1	20	62729634	Nonsense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	13525291	62729634	295886	145	66429											
BAGE2	85319	broad.mit.edu	37	chr21	11058447	11058450	+	RNA	DEL	AAAC	AAAC	-																															aatggaacctgcaaaatattAaacaaaggattcgttagaaa																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr21:11058447_11058450delAAAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAAAATATTAAACAAAGGATTCG	0.294													5	9	---	---	---	---					-	11058450	AAAC	-	11058447	6	5	352	0	1	1	0	1	0	0	0	0	1296	377	13	0		0	BAGE2	21	11058447	RNA	DEL	AAAC	TCGA-CV-A6JU-01A-11D-A31L-08		11058447	37071448	146	66430											
SAMSN1	64092	broad.mit.edu	37	chr21	15889300	15889300	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatttttttacccaaaccGcctccattatttgaagtttt	9	18	3	11	1	1	1	1	1	0	0	2	1	2	1	4	0	2	1	4	0	4	8			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr21:15889300G>A	ENST00000285670.2	-	4	570	c.396C>T	c.(394-396)ggC>ggT	p.G132G	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.G64G	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	64					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TACCCAAACCGCCTCCATTAT	0.338													8	18					0	0	0	0	A	15889300	G	A	15889300	2	1	352	1	0	0	0	0	0	0	0	1	13915	1074	38	1		1	SAMSN1	21	15889300	Silent	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	4830853	15889300	32240595	147	66431											
BRWD1	54014	broad.mit.edu	37	chr21	40667757	40667757	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtgcatttttatatgcTgatacatagttcctggaaat	10	18	7	6	0	1	1	0	1	1	0	2	2	2	2	1	1	3	3	1	1	5	8			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr21:40667757T>A	ENST00000342449.3	-	7	599	c.521A>T	c.(520-522)cAg>cTg	p.Q174L	BRWD1_ENST00000380800.3_Missense_Mutation_p.Q174L|BRWD1_ENST00000333229.2_Missense_Mutation_p.Q174L	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTTTATATGCTGATACATAGT	0.363													3	68					0	0	0	0	A	40667757	T	A	40667757	3	1	352	1	0	0	0	0	1	0	0	0	1533	1580	55	5	6824	5	BRWD1	21	40667757	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	24778457	40667757	7462138	148	66432											
NAGA	4668	broad.mit.edu	37	chr22	42461828	42461828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattcaggatggagagcaCgctccaccaggagtcctgga	11	6	12	12	1	1	1	1	0	0	1	3	5	3	4	4	4	1	2	4	4	1	1			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr22:42461828C>T	ENST00000396398.3	-	6	1205	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	NAGA_ENST00000402937.1_Missense_Mutation_p.V225M|NAGA_ENST00000403363.1_Missense_Mutation_p.V225M	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	225					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ATGGAGAGCACGCTCCACCAG	0.577													7	40					0	0	0	0	T	42461828	C	T	42461828	3	4	352	1	0	0	0	0	1	0	0	0	10211	536	19	1	578	1	NAGA	22	42461828	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08		42461828	8842738	149	66433											
ATXN3L	92552	broad.mit.edu	37	chrX	13337979	13337979	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagggctaaaatattcTccttgcaatagattgttcag	12	13	7	9	0	2	1	1	0	1	1	4	1	3	1	2	1	1	3	2	1	5	7			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:13337979T>C	ENST00000380622.2	-	1	539	c.75A>G	c.(73-75)ggA>ggG	p.G25G	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	25	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TAAAATATTCTCCTTGCAATA	0.418													11	85					0	0	0	0	C	13337979	T	C	13337979	2	2	352	1	0	0	0	0	0	0	0	1	1218	1538	54	5		5	ATXN3L	23	13337979	Silent	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08		13337979	141932581	150	66434											
MAP3K15	389840	broad.mit.edu	37	chrX	19379653	19379653	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttgcagccgcaaccaGtctataagctctttatctgt	8	13	7	13	1	3	0	0	0	3	0	4	0	4	0	3	0	4	4	3	0	4	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:19379653G>A	ENST00000338883.4	-	27	3737	c.3738C>T	c.(3736-3738)gaC>gaT	p.D1246D	PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000540249.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000359173.3_Silent_p.D681D|MAP3K15_ENST00000469203.2_Silent_p.D1078D|PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1246							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCCGCAACCAGTCTATAAGCT	0.403													25	137					0	0	0	0	A	19379653	G	A	19379653	2	1	352	1	0	0	0	0	0	0	0	1	9318	1020	36	4		4	MAP3K15	23	19379653	Silent	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	6041674	19379653	135890907	151	66435											
FTHL17	53940	broad.mit.edu	37	chrX	31090069	31090069	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacggctgggcggtggccAtggcgggcagcgcaagtgca	6	4	20	11	5	0	0	0	0	0	0	0	1	0	0	1	6	2	4	1	6	1	0			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:31090069A>T	ENST00000359202.3	-	1	101	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	1					cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.M1T(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGCGGTGGCCATGGCGGGCAG	0.647													13	42					0	0	0	0	T	31090069	A	T	31090069	1	4	352	1	0	0	0	0	0	0	0	0	6131	217	8	5		5	FTHL17	23	31090069	Translation_Start_Site	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	11710416	31090069	124180491	152	66436											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													5	181					0	0	0	0	G	37028425	A	G	37028425	3	3	352	1	0	0	0	0	1	0	0	0	5618	130	5	5	1944	5	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	5938356	37028425	118242135	153	66437											
USP11	8237	broad.mit.edu	37	chrX	47102104	47102104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagcagcatcttggaccGtgatgatatcttcgtgtgag	8	13	12	8	2	3	4	0	4	3	0	4	5	3	5	1	1	2	2	1	1	1	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:47102104G>A	ENST00000377107.2	+	12	1922	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	USP11_ENST00000218348.3_Missense_Mutation_p.R566H			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	566					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ATCTTGGACCGTGATGATATC	0.507													19	56					0	0	0	0	A	47102104	G	A	47102104	3	1	352	1	0	0	0	0	1	0	0	0	17138	1145	40	1	1743	1	USP11	23	47102104	Missense_Mutation	SNP	G	TCGA-CV-A6JU-01A-11D-A31L-08	10073679	47102104	108168456	154	66438											
KDM5C	8242	broad.mit.edu	37	chrX	53224437	53224437	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagcgtgtagcaagaattTttcttgaggaaggtcttgga	11	12	13	5	1	2	2	0	1	2	1	2	4	2	4	0	3	3	3	0	3	4	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:53224437T>C	ENST00000452825.3	-	19	3607	c.3075A>G	c.(3073-3075)aaA>aaG	p.K1025K	KDM5C_ENST00000404049.3_Silent_p.K1091K|KDM5C_ENST00000375379.3_Silent_p.K1092K|KDM5C_ENST00000375383.3_Silent_p.K1051K|KDM5C_ENST00000375401.3_Silent_p.K1092K	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1092					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGCAAGAATTTTTCTTGAGGA	0.562			"N, F, S"		clear cell renal carcinoma								4	10					0	0	0	0	C	53224437	T	C	53224437	2	2	352	1	0	0	0	0	0	0	0	1	8187	1838	64	5		5	KDM5C	23	53224437	Silent	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	6122333	53224437	102046123	155	66439											
TMEM35	59353	broad.mit.edu	37	chrX	100349725	100349725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccaacttcttcctacTgttgctggtgttggctgtgc	3	16	12	10	0	1	0	0	0	1	0	2	0	2	0	2	3	4	4	2	3	2	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:100349725T>C	ENST00000372930.4	+	2	567	c.284T>C	c.(283-285)cTg>cCg	p.L95P	TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	95						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						TTCTTCCTACTGTTGCTGGTG	0.552													33	161					0	0	0	0	C	100349725	T	C	100349725	3	2	352	1	0	0	0	0	1	0	0	0	16251	1580	55	5	290	5	TMEM35	23	100349725	Missense_Mutation	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	47125288	100349725	54920835	156	66440											
H2BFWT	158983	broad.mit.edu	37	chrX	103267972	103267972	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgaacctgcttcagcacCcggcggaaataggtggcgaa	10	7	14	10	3	1	1	1	1	0	0	1	3	1	2	2	5	3	2	2	5	4	2			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:103267972C>T	ENST00000217926.5	-	1	287	c.261G>A	c.(259-261)cgG>cgA	p.R87R		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	87			R -> W (in dbSNP:rs17332043).		nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						GCTTCAGCACCCGGCGGAAAT	0.632													17	94					0	0	0	0	T	103267972	C	T	103267972	2	4	352	1	0	0	0	0	0	0	0	1	6982	610	22	4		4	H2BFWT	23	103267972	Silent	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	2918247	103267972	52002588	157	66441											
DCX	1641	broad.mit.edu	37	chrX	110653294	110653294	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatccatgcttccgatcttCctggatccatcaatggtgta	8	14	7	12	1	3	0	2	0	1	0	7	2	7	1	4	2	1	2	4	2	2	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:110653294C>A	ENST00000338081.3	-	2	747	c.576G>T	c.(574-576)agG>agT	p.R192S	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.R111S|DCX_ENST00000371993.2_Missense_Mutation_p.R111S|DCX_ENST00000356915.2_Missense_Mutation_p.R111S|DCX_ENST00000356220.3_Missense_Mutation_p.R111S	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	192	Doublecortin 1.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTCCGATCTTCCTGGATCCAT	0.502													21	115					1.28384e-07	1.41856e-07	1	0	A	110653294	C	A	110653294	3	1	352	1	0	0	0	0	1	0	0	0	4350	854	30	2	788	2	DCX	23	110653294	Missense_Mutation	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	7385322	110653294	44617266	158	66442											
CT45A5	441521	broad.mit.edu	37	chrX	134947936	134947936	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcatcggatttccttcactActtgacattttatatcagca	10	15	6	10	1	2	1	2	1	0	0	4	2	3	2	1	2	2	2	1	2	3	7			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:134947936A>T	ENST00000370724.3	-	3	633	c.389T>A	c.(388-390)gTa>gAa	p.V130E	CT45A5_ENST00000491480.1_Missense_Mutation_p.V130E|CT45A4_ENST00000420087.2_Intron	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	130										endometrium(1)|large_intestine(2)|lung(6)	9						TTCCTTCACTACTTGACATTT	0.383													28	111					0	0	0	0	T	134947936	A	T	134947936	3	4	352	1	0	0	0	0	1	0	0	0	4020	391	14	5	192	5	CT45A5	23	134947936	Missense_Mutation	SNP	A	TCGA-CV-A6JU-01A-11D-A31L-08	24294642	134947936	20322624	159	66443											
MAGEC1	9947	broad.mit.edu	37	chrX	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-																															ctcactactttcctcagagcCctcctcagggggaggactcc																										TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)del	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567										HNSCC(15;0.026)			8	603	---	---	---	---					-	140994846	CCT	-	140994844	7	5	352	1	0	1	0	1	0	0	0	0	9249	623	22	0	1660	0	MAGEC1	23	140994844	In_Frame_Del	DEL	CCT	TCGA-CV-A6JU-01A-11D-A31L-08	6046908	140994844	14275716	160	66444											
FLNA	2316	broad.mit.edu	37	chrX	153583376	153583376	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactttgcctttgcctgcCgccttagtgtccacagtgat	5	14	9	13	1	1	1	1	1	0	0	2	1	2	1	5	0	3	0	5	0	1	3			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:153583376C>A	ENST00000422373.1	-	30	5258	c.5010G>T	c.(5008-5010)gcG>gcT	p.A1670A	FLNA_ENST00000344736.4_Silent_p.A1670A|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Silent_p.A1670A|FLNA_ENST00000369850.3_Silent_p.A1678A	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1678					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTTGCCTGCCGCCTTAGTGT	0.612											OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	16	101					3.41278e-10	3.91595e-10	1	0	A	153583376	C	A	153583376	2	1	352	1	0	0	0	0	0	0	0	1	5978	639	23	3		3	FLNA	23	153583376	Silent	SNP	C	TCGA-CV-A6JU-01A-11D-A31L-08	12588532	153583376	1687184	161	66445											
EMD	2010	broad.mit.edu	37	chrX	153609536	153609536	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaccacttcatgcaggcTgaagaaggcaaccccttcta	12	10	7	12	0	2	2	1	1	1	1	2	2	2	2	3	2	3	3	3	2	5	5			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:153609536T>G	ENST00000369842.4	+	6	1032	c.744T>G	c.(742-744)gcT>gcG	p.A248A	EMD_ENST00000369835.3_Silent_p.A213A|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	248					cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCATGCAGGCTGAAGAAGGCA	0.592													9	58					0	0	0	0	G	153609536	T	G	153609536	2	3	352	1	0	0	0	0	0	0	0	1	5125	1567	55	5		5	EMD	23	153609536	Silent	SNP	T	TCGA-CV-A6JU-01A-11D-A31L-08	26160	153609536	1661024	162	66446											
TCEB3	6924	broad.mit.edu	37	chr1	24077647	24077647	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcccctccatcttgtacCagtcctcatcagatgtacgt	9	12	5	15	1	3	1	2	0	1	1	6	1	6	1	5	0	2	2	5	0	3	3	rs146669222	byFrequency	TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:24077647C>A	ENST00000418390.2	+	4	901	c.630C>A	c.(628-630)acC>acA	p.T210T		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	210					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CATCTTGTACCAGTCCTCATC	0.507											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	142					5.18039e-06	5.68025e-06	1	0	A	24077647	C	A	24077647	2	1	353	1	0	0	0	0	0	0	0	1	15775	581	21	4		4	TCEB3	1	24077647	Silent	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08		24077647	225172974	1	66447											
KPNA6	23633	broad.mit.edu	37	chr1	32622463	32622463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttactttcagctttttaaaCggagaaatgtggagctgatt	11	16	9	5	1	1	2	1	1	0	1	1	4	1	3	0	2	4	2	0	2	4	7			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:32622463C>T	ENST00000373625.3	+	3	241	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	KPNA6_ENST00000545542.1_Missense_Mutation_p.R55W|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Missense_Mutation_p.R47W	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	50	IBB.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCTTTTTAAACGGAGAAATGT	0.408													6	44					0	0	0	0	T	32622463	C	T	32622463	3	4	353	1	0	0	0	0	1	0	0	0	8486	527	19	1	158	1	KPNA6	1	32622463	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	8544816	32622463	216628158	2	66448											
CSMD2	114784	broad.mit.edu	37	chr1	34006739	34006739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagacacacctttgcagaCgggcttggttccattccatg	8	10	9	14	1	0	2	0	0	0	2	2	2	2	2	4	2	1	3	4	2	0	4	rs139840174		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:34006739C>T	ENST00000373381.4	-	59	9624	c.9448G>A	c.(9448-9450)Gtc>Atc	p.V3150I		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3122	Sushi 25.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTTTGCAGACGGGCTTGGTT	0.507													15	76					0	0	0	0	T	34006739	C	T	34006739	3	4	353	1	0	0	0	0	1	0	0	0	3977	536	19	1	1495	1	CSMD2	1	34006739	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	1384276	34006739	215243882	3	66449											
MACF1	23499	broad.mit.edu	37	chr1	39924151	39924151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctttcatagagaaatcccGcagcggaggcagtatgtttc	10	10	11	10	2	1	1	1	0	0	1	3	3	2	2	2	2	1	4	2	2	3	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:39924151G>A	ENST00000564288.1	+	90	21962	c.21185G>A	c.(21184-21186)cGc>cAc	p.R7062H	MACF1_ENST00000545844.1_Missense_Mutation_p.R5003H|MACF1_ENST00000361689.2_Missense_Mutation_p.R5003H|MACF1_ENST00000289893.4_Missense_Mutation_p.R5505H|MACF1_ENST00000372915.3_Missense_Mutation_p.R6961H|MACF1_ENST00000317713.7_Missense_Mutation_p.R5003H|MACF1_ENST00000567887.1_Missense_Mutation_p.R7099H|MACF1_ENST00000539005.1_Missense_Mutation_p.R4873H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6961	EF-hand 1.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGAAATCCCGCAGCGGAGGC	0.463													5	39					0	0	0	0	A	39924151	G	A	39924151	3	1	353	1	0	0	0	0	1	0	0	0	9209	1087	38	1	21501	1	MACF1	1	39924151	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	5917412	39924151	209326470	4	66450											
TIE1	7075	broad.mit.edu	37	chr1	43772899	43772899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgccacgaccatgacggcGaatgtgtatgcccccctggc	7	8	11	15	3	1	1	0	1	1	0	1	3	1	1	5	2	2	1	5	2	2	1			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:43772899G>A	ENST00000372476.3	+	5	806	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	TIE1_ENST00000441333.2_Missense_Mutation_p.E243K|TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000538015.1_Missense_Mutation_p.E243K	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	243	EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCATGACGGCGAATGTGTATG	0.632													4	66					0	0	0	0	A	43772899	G	A	43772899	3	1	353	1	0	0	0	0	1	0	0	0	15987	1059	37	1	745	1	TIE1	1	43772899	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	3848748	43772899	205477722	5	66451											
PTPRF	5792	broad.mit.edu	37	chr1	44085815	44085815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctctggcagagagcaccGaggacttctggcgcatgcta	8	7	14	12	2	2	1	0	0	2	1	2	4	2	2	2	4	2	4	2	4	1	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:44085815G>A	ENST00000359947.4	+	30	5501	c.5161G>A	c.(5161-5163)Gag>Aag	p.E1721K	PTPRF_ENST00000372413.3_Missense_Mutation_p.E1712K|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1721K|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1712K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1080K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1721	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.E1711Q(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGAGAGCACCGAGGACTTCTG	0.592													4	101					0	0	0	0	A	44085815	G	A	44085815	3	1	353	1	0	0	0	0	1	0	0	0	12883	1059	37	1	5271	1	PTPRF	1	44085815	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	312916	44085815	205164806	6	66452											
PTBP2	58155	broad.mit.edu	37	chr1	97270476	97270476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcaatacagtcctgttggTtagcaatttaaatgaagagg	13	12	11	5	0	0	2	0	1	0	1	1	2	1	2	1	3	2	4	1	3	7	5			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:97270476T>C	ENST00000236228.6	+	9	1107	c.1025T>C	c.(1024-1026)gTt>gCt	p.V342A	PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000394184.3_Missense_Mutation_p.V358A|PTBP2_ENST00000426398.2_Missense_Mutation_p.V342A|PTBP2_ENST00000370197.1_Missense_Mutation_p.V347A|PTBP2_ENST00000370198.1_Missense_Mutation_p.V347A|PTBP2_ENST00000541987.1_Missense_Mutation_p.V311A	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	342	RRM 3.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GTCCTGTTGGTTAGCAATTTA	0.413													3	32					0	0	0	0	C	97270476	T	C	97270476	3	2	353	1	0	0	0	0	1	0	0	0	12805	1725	60	5	1059	5	PTBP2	1	97270476	Missense_Mutation	SNP	T	TCGA-CV-A6JY-01A-11D-A31L-08	53184661	97270476	151980145	7	66453											
COL11A1	1301	broad.mit.edu	37	chr1	103352614	103352614	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttcaccaggtggacccTgtaaagaagataatgtgagt	13	10	11	7	0	1	4	1	2	0	2	1	5	1	5	2	2	0	1	2	2	4	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:103352614T>A	ENST00000358392.2	-	63	4962		c.e63-2		COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGTGGACCCTGTAAAGAAGA	0.348													21	55					0	0	0	0	A	103352614	T	A	103352614	5	1	353	1	0	0	0	0	0	0	1	0	3697	1594	55	5	833	5	COL11A1	1	103352614	Splice_Site	SNP	T	TCGA-CV-A6JY-01A-11D-A31L-08	6082138	103352614	145898007	8	66454											
PSMA5	5686	broad.mit.edu	37	chr1	109954752	109954752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaagccagattggacaCagcttgggtcacactctcca	11	8	9	13	0	2	1	1	0	1	1	3	2	2	2	2	2	3	2	2	2	1	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:109954752C>A	ENST00000271308.4	-	5	366	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Missense_Mutation_p.V58L	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	116					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		AGATTGGACACAGCTTGGGTC	0.438													8	53					2.17888e-05	2.34793e-05	1	0	A	109954752	C	A	109954752	3	1	353	1	0	0	0	0	1	0	0	0	12749	478	17	4	399	4	PSMA5	1	109954752	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	6602138	109954752	139295869	9	66455											
CD1C	911	broad.mit.edu	37	chr1	158261979	158261979	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagatttactgagtttccAgaatacaacatgggtgccat	13	13	8	7	0	0	3	0	1	0	2	1	3	1	3	2	1	4	1	2	1	5	5			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:158261979A>G	ENST00000368170.3	+	3	713	c.434A>G	c.(433-435)cAg>cGg	p.Q145R		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	145					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CTGAGTTTCCAGAATACAACA	0.458													13	131					0	0	0	0	G	158261979	A	G	158261979	3	3	353	1	0	0	0	0	1	0	0	0	3005	188	7	5	444	5	CD1C	1	158261979	Missense_Mutation	SNP	A	TCGA-CV-A6JY-01A-11D-A31L-08	48307227	158261979	90988642	10	66456											
IL19	29949	broad.mit.edu	37	chr1	207010044	207010044	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttccctttggctcctgggtAcaatactgatattgtgctca	7	16	8	10	0	1	1	1	1	0	0	3	1	3	1	2	2	3	3	2	2	4	6			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:207010044A>G	ENST00000270218.6	+	3	976	c.37A>G	c.(37-39)Aca>Gca	p.T13A	IL19_ENST00000340758.2_Missense_Mutation_p.T51A	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	13					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			GCTCCTGGGTACAATACTGAT	0.458													26	84					0	0	0	0	G	207010044	A	G	207010044	3	3	353	1	0	0	0	0	1	0	0	0	7702	391	14	5	157	5	IL19	1	207010044	Missense_Mutation	SNP	A	TCGA-CV-A6JY-01A-11D-A31L-08	48748065	207010044	42240577	11	66457											
COG2	22796	broad.mit.edu	37	chr1	230822855	230822855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgtgtatgtggttgcaGacctggacaagcttcaggag	9	10	14	8	1	1	1	1	0	0	1	2	3	1	3	1	3	3	5	1	3	2	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:230822855G>T	ENST00000534989.1	+	13	1713	c.1378G>T	c.(1378-1380)Gac>Tac	p.D460Y	COG2_ENST00000546013.1_Missense_Mutation_p.D208Y|COG2_ENST00000366668.3_Missense_Mutation_p.D519Y|COG2_ENST00000366669.4_Missense_Mutation_p.D519Y|COG2_ENST00000535166.1_Missense_Mutation_p.D403Y			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	519					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGTGGTTGCAGACCTGGACAA	0.473													14	34					1.52009e-12	1.77581e-12	1	0	T	230822855	G	T	230822855	3	4	353	1	0	0	0	0	1	0	0	0	3688	942	33	2	1605	2	COG2	1	230822855	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	23812811	230822855	18427766	12	66458											
ITSN2	50618	broad.mit.edu	37	chr2	24484594	24484594	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaagccaaccaggttctccTacggttttttcatcaaccta	11	13	5	12	1	3	0	2	0	1	0	4	0	3	0	4	2	4	2	4	2	6	7			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:24484594T>A	ENST00000355123.4	-	21	2816	c.2373A>T	c.(2371-2373)gtA>gtT	p.V791V	ITSN2_ENST00000361999.3_Silent_p.V764V|ITSN2_ENST00000406921.3_Silent_p.V791V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	791	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGTTCTCCTACGGTTTTTT	0.333													4	22					0	0	0	0	A	24484594	T	A	24484594	2	1	353	1	0	0	0	0	0	0	0	1	7980	1509	53	5		5	ITSN2	2	24484594	Silent	SNP	T	TCGA-CV-A6JY-01A-11D-A31L-08		24484594	218714779	13	66459											
ABCG8	64241	broad.mit.edu	37	chr2	44101581	44101581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caatgctttactatgaactgGaagacgggctgtacaccact	12	10	9	10	1	0	2	0	1	0	1	0	3	0	3	1	2	4	3	1	2	6	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:44101581G>A	ENST00000272286.2	+	10	1537	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	483	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTATGAACTGGAAGACGGGCT	0.478													4	111					0	0	0	0	A	44101581	G	A	44101581	3	1	353	1	0	0	0	0	1	0	0	0	72	1175	41	2	1485	2	ABCG8	2	44101581	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	19616987	44101581	199097792	14	66460											
ADD2	119	broad.mit.edu	37	chr2	70919573	70919573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaggtggatgatgcagcGcacgtcgggcctcgctgcat	6	8	16	11	4	0	1	0	1	0	0	2	2	0	2	1	3	4	5	1	3	0	0			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:70919573G>A	ENST00000264436.3	-	7	1111	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	ADD2_ENST00000355733.3_Missense_Mutation_p.R223C|ADD2_ENST00000430656.1_Missense_Mutation_p.R239C|ADD2_ENST00000413157.2_Missense_Mutation_p.R223C|ADD2_ENST00000407644.2_Missense_Mutation_p.R223C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	223					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.R223C(2)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATGATGCAGCGCACGTCGGGC	0.607													3	13					0	0	0	0	A	70919573	G	A	70919573	3	1	353	1	0	0	0	0	1	0	0	0	305	1087	38	1	1730	1	ADD2	2	70919573	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	26817992	70919573	172279800	15	66461											
LRRTM1	347730	broad.mit.edu	37	chr2	80530154	80530154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtactcgatctcgttgcccGacaagtccattttctccagg	7	13	8	13	3	2	0	0	0	2	0	6	2	3	0	3	1	2	2	3	1	2	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:80530154G>A	ENST00000295057.3	-	2	1447	c.791C>T	c.(790-792)tCg>tTg	p.S264L	CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S264L|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	264						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CTCGTTGCCCGACAAGTCCAT	0.607										HNSCC(69;0.2)			3	51					0	0	0	0	A	80530154	G	A	80530154	3	1	353	1	0	0	0	0	1	0	0	0	9103	1059	37	1	781	1	LRRTM1	2	80530154	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	9610581	80530154	162669219	16	66462											
LRRTM1	347730	broad.mit.edu	37	chr2	80530771	80530771	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaggttgtggggcgcctcGgtgaggttgagcgcctcgca	5	8	18	10	4	0	2	0	2	0	0	2	3	0	2	2	5	1	3	2	5	0	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:80530771G>A	ENST00000295057.3	-	2	830	c.174C>T	c.(172-174)acC>acT	p.T58T	CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.T58T|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	58	LRRNT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.T58T(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGGGCGCCTCGGTGAGGTTGA	0.701										HNSCC(69;0.2)			19	29					0	0	0	0	A	80530771	G	A	80530771	2	1	353	1	0	0	0	0	0	0	0	1	9103	1103	39	1		1	LRRTM1	2	80530771	Silent	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	617	80530771	162668602	17	66463											
TEKT4	150483	broad.mit.edu	37	chr2	95537349	95537349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcagacagtgccgccctgcGagctgccctgcaaagagtac	9	5	12	15	3	0	2	0	0	0	2	0	3	0	2	3	0	6	4	3	0	2	1			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:95537349G>A	ENST00000295201.4	+	1	162	c.25G>A	c.(25-27)Gag>Aag	p.E9K	TEKT4_ENST00000427593.2_Missense_Mutation_p.E9K|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	9					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCCGCCCTGCGAGCTGCCCTG	0.682													4	19					0	0	0	0	A	95537349	G	A	95537349	3	1	353	1	0	0	0	0	1	0	0	0	15849	1059	37	1	27	1	TEKT4	2	95537349	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	15006578	95537349	147662024	18	66464											
MAP4K4	9448	broad.mit.edu	37	chr2	102476320	102476320	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgagcctgctgaccgagcGcgagaggtatcctctttcct	7	10	11	13	4	1	2	0	1	1	1	3	5	3	2	4	1	4	2	4	1	2	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:102476320G>T	ENST00000413150.2	+	15	1660	c.1605G>T	c.(1603-1605)gcG>gcT	p.A535A	MAP4K4_ENST00000324219.4_Silent_p.A566A|MAP4K4_ENST00000302217.5_Silent_p.A419A|MAP4K4_ENST00000350878.4_Silent_p.A515A|MAP4K4_ENST00000347699.4_Silent_p.A566A|MAP4K4_ENST00000350198.4_Silent_p.A535A|MAP4K4_ENST00000425019.1_Silent_p.A535A|MAP4K4_ENST00000456652.1_Silent_p.A419A	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	573					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGACCGAGCGCGAGAGGTAT	0.557													4	9					0.00024832	0.000263051	1	0	T	102476320	G	T	102476320	2	4	353	1	0	0	0	0	0	0	0	1	9331	1074	38	3		3	MAP4K4	2	102476320	Silent	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	6938971	102476320	140723053	19	66465											
ANAPC1	64682	broad.mit.edu	37	chr2	112540010	112540010	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaaactttgccatcccAttggatcttctttgtaggag	10	13	7	11	0	2	0	0	0	2	0	3	2	3	2	3	2	3	1	3	2	3	5			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:112540010A>G	ENST00000341068.3	-	43	5910	c.5138T>C	c.(5137-5139)aTg>aCg	p.M1713T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1713					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TTGCCATCCCATTGGATCTTC	0.413													4	15					0	0	0	0	G	112540010	A	G	112540010	3	3	353	1	0	0	0	0	1	0	0	0	598	217	8	5	720	5	ANAPC1	2	112540010	Missense_Mutation	SNP	A	TCGA-CV-A6JY-01A-11D-A31L-08	10063690	112540010	130659363	20	66466											
SCN7A	6332	broad.mit.edu	37	chr2	167322318	167322318	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatatgggtttccagttcTgttgtgcagggtttcatttt	7	19	10	5	0	2	0	1	0	1	0	3	0	3	0	1	2	1	5	1	2	2	8			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:167322318T>C	ENST00000409855.1	-	7	970	c.844A>G	c.(844-846)Aga>Gga	p.R282G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	282					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTCCAGTTCTGTTGTGCAGG	0.388													4	59					0	0	0	0	C	167322318	T	C	167322318	3	2	353	1	0	0	0	0	1	0	0	0	14010	1588	55	5	4280	5	SCN7A	2	167322318	Missense_Mutation	SNP	T	TCGA-CV-A6JY-01A-11D-A31L-08	54782308	167322318	75877055	21	66467											
C2orf88	84281	broad.mit.edu	37	chr2	191064798	191064798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctcaggatatcttgtGtgatgccttgcagcaatggg	7	13	12	9	0	2	1	1	1	2	0	3	2	2	2	2	2	3	2	2	2	2	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:191064798G>A	ENST00000340623.4	+	2	623	c.212G>A	c.(211-213)tGt>tAt	p.C71Y	C2orf88_ENST00000396974.2_Missense_Mutation_p.C71Y|C2orf88_ENST00000409870.1_Missense_Mutation_p.C71Y|C2orf88_ENST00000443551.2_Missense_Mutation_p.C71Y	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN	chromosome 2 open reading frame 88	71										kidney(1)|large_intestine(1)|lung(1)	3						GATATCTTGTGTGATGCCTTG	0.463													15	126					0	0	0	0	A	191064798	G	A	191064798	3	1	353	1	0	0	0	0	1	0	0	0	2222	1377	48	4	214	4	C2orf88	2	191064798	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	23742480	191064798	52134575	22	66468											
CDK15	65061	broad.mit.edu	37	chr2	202677280	202677280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcccatttacagctatccGagaaggtaagaacagcagaa	16	7	9	9	1	0	3	0	0	0	3	2	4	2	3	2	1	4	3	2	1	6	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:202677280G>A	ENST00000450471.2	+	4	529	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	CDK15_ENST00000434439.1_Missense_Mutation_p.R148Q|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000374598.4_Missense_Mutation_p.R148Q|CDK15_ENST00000260967.2_Missense_Mutation_p.R97Q|CDK15_ENST00000410091.3_Missense_Mutation_p.R97Q	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	148	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	ACAGCTATCCGAGAAGGTAAG	0.398													5	43					0	0	0	0	A	202677280	G	A	202677280	3	1	353	1	0	0	0	0	1	0	0	0	3160	1058	37	1	300	1	CDK15	2	202677280	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	11612482	202677280	40522093	23	66469											
KIF1A	547	broad.mit.edu	37	chr2	241685200	241685200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcggcagagatgctggacGcctgcaggactgtcacacgg	9	7	14	11	3	1	1	1	0	0	1	2	4	1	3	1	4	2	3	1	4	0	1			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:241685200G>A	ENST00000498729.2	-	31	3575	c.3329C>T	c.(3328-3330)gCg>gTg	p.A1110V	KIF1A_ENST00000320389.7_Missense_Mutation_p.A1009V	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1009					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GATGCTGGACGCCTGCAGGAC	0.627													10	10					0	0	0	0	A	241685200	G	A	241685200	3	1	353	1	0	0	0	0	1	0	0	0	8334	1087	38	1	2122	1	KIF1A	2	241685200	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	39007920	241685200	1514173	24	66470											
ZNF589	51385	broad.mit.edu	37	chr3	48309607	48309607	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcacaggggggctgaagcAgaagatcaacgagtggaagg	15	4	16	6	1	2	3	2	1	0	2	2	5	2	4	0	5	2	2	0	5	5	0			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr3:48309607A>G	ENST00000354698.3	+	4	498	c.426A>G	c.(424-426)gcA>gcG	p.A142A	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Silent_p.A141A|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	142					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGCTGAAGCAGAAGATCAAC	0.502													4	89					0	0	0	0	G	48309607	A	G	48309607	2	3	353	1	0	0	0	0	0	0	0	1	18116	175	7	5		5	ZNF589	3	48309607	Silent	SNP	A	TCGA-CV-A6JY-01A-11D-A31L-08		48309607	149712823	25	66471											
CCDC66	285331	broad.mit.edu	37	chr3	56647723	56647723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgcttagcacaggaacGtgaagagatgcagaaacagt	14	7	12	8	2	0	3	0	1	0	2	1	5	0	4	0	1	4	4	0	1	4	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr3:56647723G>A	ENST00000394672.3	+	11	1581	c.1511G>A	c.(1510-1512)cGt>cAt	p.R504H	CCDC66_ENST00000326595.7_Missense_Mutation_p.R470H|CCDC66_ENST00000436465.2_Missense_Mutation_p.R504H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	504										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GCACAGGAACGTGAAGAGATG	0.398													6	63					0	0	0	0	A	56647723	G	A	56647723	3	1	353	1	0	0	0	0	1	0	0	0	2865	1145	40	1	1553	1	CCDC66	3	56647723	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	8338116	56647723	141374707	26	66472											
ZIC4	84107	broad.mit.edu	37	chr3	147108953	147108953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgtcgctagtgtgcaCgtgcgaatgcttcttacggt	5	14	13	9	4	1	0	0	0	1	0	2	1	1	0	0	2	4	4	0	2	3	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr3:147108953C>T	ENST00000383075.3	-	4	1281	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	ZIC4_ENST00000484399.1_Missense_Mutation_p.V257M|ZIC4_ENST00000425731.3_Missense_Mutation_p.V295M|ZIC4_ENST00000491672.1_Missense_Mutation_p.V51M|ZIC4_ENST00000525172.2_Missense_Mutation_p.V307M|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.V257M	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	257						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CTAGTGTGCACGTGCGAATGC	0.632													4	36					0	0	0	0	T	147108953	C	T	147108953	3	4	353	1	0	0	0	0	1	0	0	0	17776	536	19	1	243	1	ZIC4	3	147108953	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	90461230	147108953	50913477	27	66473											
MECOM	2122	broad.mit.edu	37	chr3	168833285	168833285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccaaacacgtggttttttCgaggctcagtcagctttgtc	7	13	9	12	2	2	0	2	0	0	0	4	1	2	0	2	2	2	3	2	2	1	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr3:168833285C>T	ENST00000464456.1	-	7	3011	c.1811G>A	c.(1810-1812)cGa>cAa	p.R604Q	MECOM_ENST00000433243.2_Missense_Mutation_p.R605Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R792Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R604Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R604Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R605Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R604Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R669Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	13							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTGGTTTTTTCGAGGCTCAGT	0.512													8	35					0	0	0	0	T	168833285	C	T	168833285	3	4	353	1	0	0	0	0	1	0	0	0	9491	884	31	1	1384	1	MECOM	3	168833285	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	21724332	168833285	29189145	28	66474											
MCF2L2	23101	broad.mit.edu	37	chr3	182923983	182923983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccccttccaagctggCgaattgaaagtgtcatcagc	9	9	10	13	1	2	1	2	1	0	0	4	2	4	1	3	2	2	2	3	2	3	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr3:182923983C>T	ENST00000328913.3	-	24	3029	c.2732G>A	c.(2731-2733)cGc>cAc	p.R911H	MCF2L2_ENST00000473233.1_Missense_Mutation_p.R911H|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	911	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCCAAGCTGGCGAATTGAAAG	0.423													17	50					0	0	0	0	T	182923983	C	T	182923983	3	4	353	1	0	0	0	0	1	0	0	0	9449	768	27	1	640	1	MCF2L2	3	182923983	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	14090698	182923983	15098447	29	66475											
OTOP1	133060	broad.mit.edu	37	chr4	4199805	4199805	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagttgggggcgtgcagttAcactgcggtgtgtggtcatc	6	11	17	7	2	1	1	1	0	0	1	2	1	1	1	0	4	3	3	0	4	1	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:4199805A>G	ENST00000296358.4	-	5	780	c.756T>C	c.(754-756)tgT>tgC	p.C252C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	252					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGTGCAGTTACACTGCGGTG	0.522													10	35					0	0	0	0	G	4199805	A	G	4199805	2	3	353	1	0	0	0	0	0	0	0	1	11376	389	14	5		5	OTOP1	4	4199805	Silent	SNP	A	TCGA-CV-A6JY-01A-11D-A31L-08		4199805	186954471	30	66476											
MAN2B2	23324	broad.mit.edu	37	chr4	6576961	6576961	+	Frame_Shift_Del	DEL	G	G	-																															gggcagctgtgctggctgccGctgctggcaccgctcctgtt																										TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:6576961delG	ENST00000285599.3	+	1	60	c.24delG	c.(22-24)ccfs	p.P8fs	MAN2B2_ENST00000504248.1_Frame_Shift_Del_p.P8fs	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	8					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCTGGCTGCCGCTGCTGGCAC	0.771													2	4	---	---	---	---					-	6576961	G	-	6576961	7	5	353	1	0	1	0	1	0	0	0	0	9286	1074	38	0	26	0	MAN2B2	4	6576961	Frame_Shift_Del	DEL	G	TCGA-CV-A6JY-01A-11D-A31L-08	2377156	6576961	184577315	31	66477											
CPEB2	132864	broad.mit.edu	37	chr4	15063859	15063859	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtgctcggtttgttcagcTtcagcatggtgatattgata	8	16	11	6	1	2	2	2	2	0	0	3	2	2	2	0	2	3	5	0	2	3	7			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:15063859T>A	ENST00000538197.1	+	11	2852	c.2852T>A	c.(2851-2853)cTt>cAt	p.L951H	RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000507071.1_Missense_Mutation_p.L506H|CPEB2_ENST00000382395.3_Missense_Mutation_p.L484H|CPEB2_ENST00000259997.5_Missense_Mutation_p.L514H|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382401.3_Missense_Mutation_p.L479H|CPEB2_ENST00000345451.3_Missense_Mutation_p.L476H|CPEB2_ENST00000541112.1_Missense_Mutation_p.L943H|CPEB2_ENST00000442003.2_Missense_Mutation_p.L924H	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	506					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TTTGTTCAGCTTCAGCATGGT	0.423													43	107					0	0	0	0	A	15063859	T	A	15063859	3	1	353	1	0	0	0	0	1	0	0	0	3831	1609	56	5	2903	5	CPEB2	4	15063859	Missense_Mutation	SNP	T	TCGA-CV-A6JY-01A-11D-A31L-08	8486898	15063859	176090417	32	66478											
BEND4	389206	broad.mit.edu	37	chr4	42122294	42122294	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtagacaggatagttgttCaacagctgcttgcttccctg	9	13	10	9	0	1	1	1	0	0	1	2	2	2	2	1	1	4	6	1	1	3	6			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:42122294C>T	ENST00000502486.1	-	5	1743	c.1164G>A	c.(1162-1164)ttG>ttA	p.L388L	BEND4_ENST00000504360.1_Silent_p.L384L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	388										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GATAGTTGTTCAACAGCTGCT	0.453													11	99					0	0	0	0	T	42122294	C	T	42122294	2	4	353	1	0	0	0	0	0	0	0	1	1404	825	29	2		2	BEND4	4	42122294	Silent	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	27058435	42122294	149031982	33	66479											
IL2	3558	broad.mit.edu	37	chr4	123377470	123377470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaattccattcaaaatcatCtgtaaatccagcagtaaatg	16	13	4	8	0	3	0	2	0	1	0	5	0	5	0	2	0	1	3	2	0	7	5			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:123377470C>A	ENST00000226730.4	-	1	410	c.126G>T	c.(124-126)caG>caT	p.Q42H		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	42					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		TCAAAATCATCTGTAAATCCA	0.323			T	TNFRSF17	intestinal T-cell lymphoma								4	17					0.00024832	0.000263051	1	0	A	123377470	C	A	123377470	3	1	353	1	0	0	0	0	1	0	0	0	7719	912	32	2	351	2	IL2	4	123377470	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	81255176	123377470	67776806	34	66480											
FBXW7	55294	broad.mit.edu	37	chr4	153250891	153250910	+	Frame_Shift_Del	DEL	CAAAACTGTAAGCATGTGAT	CAAAACTGTAAGCATGTGAT	-																															cactaactattcggttaccaCaaaactgtaagcatgtgatc																										TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:153250891_153250910delCAAAACTGTAAGCATGTGAT	ENST00000281708.4	-	8	2379_2398	c.1150_1169delATCACATGCTTACAGTTTTG	c.(1150-1170)tfs	p.ITCLQFC384fs	FBXW7_ENST00000296555.5_Frame_Shift_Del_p.ITCLQFC266fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.ITCLQFC384fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.ITCLQFC304fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.ITCLQFC208fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.ITCLQFC384fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	384					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.C386W(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCGGTTACCACAAAACTGTAAGCATGTGATCACATGATCA	0.341			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								7	60	---	---	---	---					-	153250910	CAAAACTGTAAGCATGTGAT	-	153250891	7	5	353	1	0	1	0	1	0	0	0	0	5814	478	17	0	974	0	FBXW7	4	153250891	Frame_Shift_Del	DEL	CAAAACTGTAAGCATGTGAT	TCGA-CV-A6JY-01A-11D-A31L-08	29873421	153250891	37903385	35	66481											
C9	735	broad.mit.edu	37	chr5	39331863	39331863	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccggttacagagtccattgTagaactcattgtcaaaaggt	12	11	9	9	1	2	2	2	0	0	2	3	2	3	2	2	2	2	2	2	2	5	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:39331863T>C	ENST00000263408.4	-	5	625	c.530A>G	c.(529-531)tAc>tGc	p.Y177C	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	177	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GAGTCCATTGTAGAACTCATT	0.438													11	113					0	0	0	0	C	39331863	T	C	39331863	3	2	353	1	0	0	0	0	1	0	0	0	2468	1638	57	5	1177	5	C9	5	39331863	Missense_Mutation	SNP	T	TCGA-CV-A6JY-01A-11D-A31L-08		39331863	141583397	36	66482											
GPBP1	65056	broad.mit.edu	37	chr5	56526784	56526784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgattctgctattgggCgtcctaatggaggtaaaatt	9	15	11	6	1	1	1	0	1	1	0	2	2	2	2	1	3	1	3	1	3	4	7			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:56526784C>T	ENST00000424459.3	+	4	1449	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	GPBP1_ENST00000511209.1_Missense_Mutation_p.R66C|GPBP1_ENST00000264779.6_Missense_Mutation_p.R66C|GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000506184.2_Missense_Mutation_p.R59C|GPBP1_ENST00000454432.2_Missense_Mutation_p.R59C|GPBP1_ENST00000538707.1_Missense_Mutation_p.R66C	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TGCTATTGGGCGTCCTAATGG	0.353													26	57					0	0	0	0	T	56526784	C	T	56526784	3	4	353	1	0	0	0	0	1	0	0	0	6644	768	27	1	206	1	GPBP1	5	56526784	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	17194921	56526784	124388476	37	66483											
ARSB	411	broad.mit.edu	37	chr5	78260265	78260265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggatggttagttatgaGggctatagcccttttggtga	7	15	15	4	0	0	2	0	2	0	0	0	3	0	3	1	5	1	3	1	5	4	6			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:78260265G>A	ENST00000264914.4	-	3	1200	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	ARSB_ENST00000565165.1_Missense_Mutation_p.L222F|ARSB_ENST00000396151.3_Missense_Mutation_p.L222F	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	222					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TTAGTTATGAGGGCTATAGCC	0.363													4	37					0	0	0	0	A	78260265	G	A	78260265	3	1	353	1	0	0	0	0	1	0	0	0	992	1000	35	4	994	4	ARSB	5	78260265	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	21733481	78260265	102654995	38	66484											
RASGRF2	5924	broad.mit.edu	37	chr5	80409621	80409621	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaccacacactggtcagatAccactggatctcagcagagg	12	6	9	14	0	2	2	2	0	1	2	3	3	2	3	3	3	2	1	3	3	1	1			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:80409621A>G	ENST00000265080.4	+	15	2419	c.2352A>G	c.(2350-2352)atA>atG	p.I784M	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	784					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTGGTCAGATACCACTGGATC	0.542													10	56					0	0	0	0	G	80409621	A	G	80409621	3	3	353	1	0	0	0	0	1	0	0	0	13155	381	14	5	2410	5	RASGRF2	5	80409621	Missense_Mutation	SNP	A	TCGA-CV-A6JY-01A-11D-A31L-08	2149356	80409621	100505639	39	66485											
VCAN	1462	broad.mit.edu	37	chr5	82834812	82834812	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaccatggtcagcacttCagccttcccctgggaagagt	9	9	10	13	0	2	1	2	0	0	1	3	2	3	2	4	2	3	2	4	2	2	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:82834812C>A	ENST00000265077.3	+	8	6555	c.5990C>A	c.(5989-5991)tCa>tAa	p.S1997*	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Nonsense_Mutation_p.S1010*|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1997	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTCAGCACTTCAGCCTTCCCC	0.517													9	41					3.09899e-07	3.52157e-07	1	0	A	82834812	C	A	82834812	4	1	353	1	0	0	0	0	0	1	0	0	17234	838	29	2	6016	2	VCAN	5	82834812	Nonsense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	2425191	82834812	98080448	40	66486											
FBN2	2201	broad.mit.edu	37	chr5	127624856	127624856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagtcaaggttgtagccCattggacattcacagcgaaa	12	10	11	8	1	2	0	2	0	0	0	2	2	2	1	1	2	2	3	1	2	4	5			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:127624856C>A	ENST00000508053.1	-	58	7574	c.6600G>T	c.(6598-6600)atG>atT	p.M2200I	FBN2_ENST00000262464.4_Missense_Mutation_p.M2200I			P35556	FBN2_HUMAN	fibrillin 2	2200	EGF-like 36; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTTGTAGCCCATTGGACATT	0.398													10	54					1.58986e-06	1.7744e-06	1	0	A	127624856	C	A	127624856	3	1	353	1	0	0	0	0	1	0	0	0	5748	594	21	4	2194	4	FBN2	5	127624856	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	44790044	127624856	53290404	41	66487											
PPARGC1B	133522	broad.mit.edu	37	chr5	149225445	149225445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgagctacggagggctccGgcacttctgctggcccagat	6	8	14	13	2	1	2	0	1	1	1	2	3	2	3	2	4	3	5	2	4	1	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:149225445G>A	ENST00000309241.5	+	11	2971	c.2939G>A	c.(2938-2940)cGg>cAg	p.R980Q	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R980Q|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R941Q|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R916Q	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	980					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAGGGCTCCGGCACTTCTGC	0.587													8	66					0	0	0	0	A	149225445	G	A	149225445	3	1	353	1	0	0	0	0	1	0	0	0	12372	1116	39	1	2988	1	PPARGC1B	5	149225445	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	21600589	149225445	31689815	42	66488											
WWC1	23286	broad.mit.edu	37	chr5	167891965	167891965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaggatgctggagaagCgggtgagttctgcctcgaag	8	9	17	7	2	1	3	0	2	1	1	2	6	1	4	1	3	4	3	1	3	2	1	rs138503526		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:167891965C>T	ENST00000265293.4	+	21	3650	c.3148C>T	c.(3148-3150)Cgg>Tgg	p.R1050W	WWC1_ENST00000521089.1_Missense_Mutation_p.R1056W|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1050	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCTGGAGAAGCGGGTGAGTTC	0.652													5	27					0	0	0	0	T	167891965	C	T	167891965	3	4	353	1	0	0	0	0	1	0	0	0	17507	759	27	1	3248	1	WWC1	5	167891965	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	18666520	167891965	13023295	43	66489											
SENP6	26054	broad.mit.edu	37	chr6	76376581	76376581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacttgcagagcagagcGtgaactacgaagcattccag	15	7	10	9	2	0	3	0	1	0	2	1	4	1	3	1	0	7	3	1	0	5	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr6:76376581G>A	ENST00000370014.3	+	10	1767	c.1148G>A	c.(1147-1149)cGt>cAt	p.R383H	SENP6_ENST00000447266.2_Missense_Mutation_p.R383H|SENP6_ENST00000370010.2_Missense_Mutation_p.R376H|SENP6_ENST00000327284.8_Missense_Mutation_p.R376H	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	383					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGAGCAGAGCGTGAACTACGA	0.423													8	57					0	0	0	0	A	76376581	G	A	76376581	3	1	353	1	0	0	0	0	1	0	0	0	14137	1145	40	1	1186	1	SENP6	6	76376581	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08		76376581	94738486	44	66490											
MLLT4	4301	broad.mit.edu	37	chr6	168352535	168352535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgcacgatcgagcgcagaGacttgcagtacattacagtc	11	7	10	13	4	0	1	0	0	0	1	2	4	0	1	1	0	4	4	1	0	2	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr6:168352535G>A	ENST00000366806.2	+	30	4622	c.4480G>A	c.(4480-4482)Gac>Aac	p.D1494N	MLLT4_ENST00000400822.3_Missense_Mutation_p.D1493N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D1494N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D1501N|MLLT4_ENST00000392112.1_Missense_Mutation_p.D1477N|MLLT4_ENST00000447894.2_Missense_Mutation_p.D1494N|MLLT4_ENST00000344191.4_Missense_Mutation_p.D1494N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1494					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CGAGCGCAGAGACTTGCAGTA	0.602			T	MLL	AL								17	58					0	0	0	0	A	168352535	G	A	168352535	3	1	353	1	0	0	0	0	1	0	0	0	9698	942	33	2	4594	2	MLLT4	6	168352535	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	91975954	168352535	2762532	45	66491											
PCLO	27445	broad.mit.edu	37	chr7	82595653	82595653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactaattttacttggggagGcactgctgttttctgagatg	8	15	11	7	0	1	1	0	1	1	1	1	3	1	2	0	3	2	3	0	3	2	6			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr7:82595653G>A	ENST00000423517.2	-	4	3788	c.3451C>T	c.(3451-3453)Cct>Tct	p.P1151S	PCLO_ENST00000333891.8_Missense_Mutation_p.P1151S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1090					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTGGGGAGGCACTGCTGTT	0.408													11	37					0	0	0	0	A	82595653	G	A	82595653	3	1	353	1	0	0	0	0	1	0	0	0	11654	1203	42	4	12082	4	PCLO	7	82595653	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08		82595653	76543010	46	66492											
DLX6	1750	broad.mit.edu	37	chr7	96639226	96639226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcgccacgctcgccagCgctgcctccagtctgggacg	4	7	12	18	5	1	0	0	0	1	0	4	1	2	1	5	1	2	2	5	1	0	0			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr7:96639226C>T	ENST00000518156.2	+	3	1179	c.749C>T	c.(748-750)gCg>gTg	p.A250V	DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000555308.1_Missense_Mutation_p.A122V|DLX6_ENST00000007660.5_Missense_Mutation_p.A222V|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	132					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGCTCGCCAGCGCTGCCTCCA	0.592													9	32					0	0	0	0	T	96639226	C	T	96639226	3	4	353	1	0	0	0	0	1	0	0	0	4612	768	27	1	759	1	DLX6	7	96639226	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	14043573	96639226	62499437	47	66493											
CHPF2	54480	broad.mit.edu	37	chr7	150932496	150932496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaagacctgtacttaggccGggcagaggagttcattggcg	9	8	14	10	2	1	2	1	0	0	2	1	3	1	3	3	4	1	3	3	4	3	4	rs143762414		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr7:150932496G>T	ENST00000035307.2	+	2	2139	c.626G>T	c.(625-627)cGg>cTg	p.R209L	CHPF2_ENST00000495645.1_Missense_Mutation_p.R201L	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	209						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TACTTAGGCCGGGCAGAGGAG	0.602													4	109					0.184627	0.184627	1	0	T	150932496	G	T	150932496	3	4	353	1	0	0	0	0	1	0	0	0	3398	1116	39	3	632	3	CHPF2	7	150932496	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	54293270	150932496	8206167	48	66494											
PLEKHF2	79666	broad.mit.edu	37	chr8	96166876	96166876	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagtcctctaagcctgtgCggatttgtgacttctgctat	6	14	10	11	1	2	1	0	1	2	0	3	2	3	2	3	1	3	1	3	1	2	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr8:96166876C>A	ENST00000315367.3	+	2	845	c.604C>A	c.(604-606)Cgg>Agg	p.R202R	PLEKHF2_ENST00000519516.1_Silent_p.R202R	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	202						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					TAAGCCTGTGCGGATTTGTGA	0.502													19	89					5.35267e-07	6.02778e-07	1	0	A	96166876	C	A	96166876	2	1	353	1	0	0	0	0	0	0	0	1	12139	759	27	3		3	PLEKHF2	8	96166876	Silent	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08		96166876	50197146	49	66495											
GNG10	2790	broad.mit.edu	37	chr9	114429103	114429103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttgtttcaggtctctcaGgcagctgcagagcttcaaca	8	12	9	12	0	4	1	3	0	1	1	5	1	4	1	1	2	4	5	1	2	1	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:114429103G>T	ENST00000374293.4	+	2	390	c.90G>T	c.(88-90)caG>caT	p.Q30H	DNAJC25-GNG10_ENST00000374294.3_Missense_Mutation_p.Q115H|DNAJC25_ENST00000556107.1_Missense_Mutation_p.Q115H	NM_001017998.3|NM_001198664.1	NP_001017998.1|NP_001185593.1			guanine nucleotide binding protein (G protein), gamma 10											kidney(1)	1						AGGTCTCTCAGGCAGCTGCAG	0.532													3	23					0.004672	0.00482645	1	0	T	114429103	G	T	114429103	3	4	353	1	0	0	0	0	1	0	0	0	6574	991	35	4	96	4	GNG10	9	114429103	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08		114429103	26784328	50	66496											
PTGES2	80142	broad.mit.edu	37	chr9	130884674	130884674	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcggcttctggccccccatGaagggccggtccttgcccac	4	9	11	17	2	1	1	0	1	1	0	3	1	2	1	6	4	1	1	6	4	1	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:130884674G>A	ENST00000338961.6	-	6	1716	c.972C>T	c.(970-972)ttC>ttT	p.F324F	PTGES2_ENST00000277462.5_Silent_p.F133F	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	324	GST C-terminal.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						GGCCCCCCATGAAGGGCCGGT	0.642													31	103					0	0	0	0	A	130884674	G	A	130884674	2	1	353	1	0	0	0	0	0	0	0	1	12827	1281	45	2		2	PTGES2	9	130884674	Silent	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	16455571	130884674	10328757	51	66497											
OBP2A	29991	broad.mit.edu	37	chr9	138439759	138439759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggagctgcccgggaCggacgactacgtcttttact	7	9	12	13	4	1	0	0	0	1	0	1	4	1	3	2	3	5	2	2	3	2	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:138439759C>T	ENST00000539850.1	+	4	346	c.320C>T	c.(319-321)aCg>aTg	p.T107M	OBP2A_ENST00000342114.4_Silent_p.D62D|OBP2A_ENST00000340780.3_Missense_Mutation_p.T107M|OBP2A_ENST00000371776.1_Missense_Mutation_p.T107M			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	107					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGCCCGGGACGGACGACTAC	0.607													6	35					0	0	0	0	T	138439759	C	T	138439759	3	4	353	1	0	0	0	0	1	0	0	0	10881	536	19	1	334	1	OBP2A	9	138439759	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	7555085	138439759	2773672	52	66498											
NOTCH1	4851	broad.mit.edu	37	chr9	139413171	139413171	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccagtccagccgttgAcacacacgcagttgtagcca	10	7	8	16	2	1	1	1	1	0	0	2	1	2	1	5	0	2	4	5	0	1	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:139413171A>T	ENST00000277541.6	-	6	1046	c.971T>A	c.(970-972)gTc>gAc	p.V324D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	324	EGF-like 8; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCAGCCGTTGACACACACGCA	0.617			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			4	54					0	0	0	0	T	139413171	A	T	139413171	3	4	353	1	0	0	0	0	1	0	0	0	10617	275	10	5	6812	5	NOTCH1	9	139413171	Missense_Mutation	SNP	A	TCGA-CV-A6JY-01A-11D-A31L-08	973412	139413171	1800260	53	66499											
LCN15	389812	broad.mit.edu	37	chr9	139658429	139658429	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaccctgcagtcagaTgccatggagaccacgtacca	13	5	11	12	1	1	3	1	0	0	3	1	5	1	4	4	2	3	2	4	2	2	1			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:139658429T>C	ENST00000316144.5	-	2	153	c.129A>G	c.(127-129)gcA>gcG	p.A43A	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	43					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|lung(1)	2						TGCAGTCAGATGCCATGGAGA	0.652													4	116					0	0	0	0	C	139658429	T	C	139658429	2	2	353	1	0	0	0	0	0	0	0	1	8736	1451	51	5		5	LCN15	9	139658429	Silent	SNP	T	TCGA-CV-A6JY-01A-11D-A31L-08	245258	139658429	1555002	54	66500											
ZMYND11	10771	broad.mit.edu	37	chr10	226065	226065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaacattgaccgtattaCaaagtaagtaaatttaaaca	18	11	5	7	1	0	1	0	1	0	0	0	1	0	1	2	0	4	3	2	0	9	7			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr10:226065C>T	ENST00000397962.3	+	2	541	c.113C>T	c.(112-114)aCa>aTa	p.T38I	ZMYND11_ENST00000381604.4_5'UTR|ZMYND11_ENST00000381591.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000397959.3_Missense_Mutation_p.T38I|ZMYND11_ENST00000602682.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000381584.1_5'UTR|ZMYND11_ENST00000309776.4_5'UTR|ZMYND11_ENST00000381607.4_5'UTR|ZMYND11_ENST00000402736.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000558098.2_Missense_Mutation_p.T38I|ZMYND11_ENST00000509513.2_Missense_Mutation_p.T38I|ZMYND11_ENST00000403354.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000381602.4_5'UTR			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	0					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GACCGTATTACAAAGTAAGTA	0.363													8	39					0	0	0	0	T	226065	C	T	226065	3	4	353	1	0	0	0	0	1	0	0	0	17801	478	17	4	115	4	ZMYND11	10	226065	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08		226065	135308682	55	66501											
CUBN	8029	broad.mit.edu	37	chr10	17113533	17113533	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggtccacctacaggttctTtctccaggatacacgttagg	9	12	9	11	1	2	0	0	0	2	0	4	1	3	1	3	4	2	2	3	4	3	5			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr10:17113533T>A	ENST00000377833.4	-	19	2582	c.2517A>T	c.(2515-2517)gaA>gaT	p.E839D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	839	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACAGGTTCTTTCTCCAGGAT	0.448													22	38					0	0	0	0	A	17113533	T	A	17113533	3	1	353	1	0	0	0	0	1	0	0	0	4083	1838	64	5	8550	5	CUBN	10	17113533	Missense_Mutation	SNP	T	TCGA-CV-A6JY-01A-11D-A31L-08	16887468	17113533	118421214	56	66502											
SLC39A12	221074	broad.mit.edu	37	chr10	18276411	18276411	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctcctttgacttagaatAcggctacagcacggtggctg	9	11	11	10	2	1	2	0	1	1	1	2	3	1	2	1	3	3	3	1	3	4	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr10:18276411A>T	ENST00000377369.2	+	7	1373	c.1100A>T	c.(1099-1101)tAc>tTc	p.Y367F	SLC39A12_ENST00000377371.3_Missense_Mutation_p.Y367F|SLC39A12_ENST00000539911.1_Missense_Mutation_p.Y233F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.Y367F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	367					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GACTTAGAATACGGCTACAGC	0.527													17	43					0	0	0	0	T	18276411	A	T	18276411	3	4	353	1	0	0	0	0	1	0	0	0	14703	391	14	5	1122	5	SLC39A12	10	18276411	Missense_Mutation	SNP	A	TCGA-CV-A6JY-01A-11D-A31L-08	1162878	18276411	117258336	57	66503											
SEMA4G	57715	broad.mit.edu	37	chr10	102738956	102738956	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgtatgagacactgcgtgGggtctgcagcctggatgctg	7	10	15	9	1	1	1	0	1	1	1	1	3	1	2	1	3	4	3	1	3	1	1			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr10:102738956G>C	ENST00000210633.3	+	8	989	c.911G>C	c.(910-912)gGg>gCg	p.G304A	SEMA4G_ENST00000517724.1_Missense_Mutation_p.G304A|SEMA4G_ENST00000370250.4_Missense_Mutation_p.G304A|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_3'UTR|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000519756.1_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	304	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		ACACTGCGTGGGGTCTGCAGC	0.557													7	90					0	0	0	0	C	102738956	G	C	102738956	3	2	353	1	0	0	0	0	1	0	0	0	14123	1232	43	4	941	4	SEMA4G	10	102738956	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	84462545	102738956	32795791	58	66504											
DUSP5	1847	broad.mit.edu	37	chr10	112266802	112266802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccctgctgaatgtctcccGacggacctccgaggcctgcg	6	7	12	16	4	1	1	0	1	1	0	3	4	2	2	5	2	3	1	5	2	1	0			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr10:112266802G>A	ENST00000369583.3	+	3	922	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	213	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AATGTCTCCCGACGGACCTCC	0.547													18	226					0	0	0	0	A	112266802	G	A	112266802	3	1	353	1	0	0	0	0	1	0	0	0	4864	1058	37	1	648	1	DUSP5	10	112266802	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	9527846	112266802	23267945	59	66505											
NLRP6	171389	broad.mit.edu	37	chr11	281566	281566	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaggaggaggAgggagaggagcccaactacc	14	1	18	8	0	0	3	0	0	0	3	0	9	0	8	3	6	4	0	3	6	2	1			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:281566A>G	ENST00000534750.1	+	4	2037	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662													5	184					0	0	0	0	G	281566	A	G	281566	3	3	353	1	0	0	0	0	1	0	0	0	10551	304	11	5	1846	5	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-CV-A6JY-01A-11D-A31L-08		281566	134724950	60	66506											
OR4C6	219432	broad.mit.edu	37	chr11	55433016	55433016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccgctacgtggccatctGtaagcccctgcactacacga	9	8	9	15	3	1	1	0	1	1	0	1	2	1	1	4	1	4	3	4	1	3	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:55433016G>T	ENST00000314259.3	+	1	403	c.374G>T	c.(373-375)tGt>tTt	p.C125F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTGGCCATCTGTAAGCCCCTG	0.542													4	65					0.00909568	0.00931934	1	0	T	55433016	G	T	55433016	3	4	353	1	0	0	0	0	1	0	0	0	11123	1377	48	4	376	4	OR4C6	11	55433016	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	55151450	55433016	79573500	61	66507											
OR9G1	390174	broad.mit.edu	37	chr11	56467999	56467999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaaatagcaccctcatcGtgttgatctgtaatgactcc	11	12	8	10	1	2	2	1	2	1	0	4	3	3	3	2	1	1	3	2	1	4	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:56467999G>A	ENST00000312153.1	+	1	136	c.136G>A	c.(136-138)Gtg>Atg	p.V46M		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CACCCTCATCGTGTTGATCTG	0.502													9	66					0	0	0	0	A	56467999	G	A	56467999	3	1	353	1	0	0	0	0	1	0	0	0	11321	1145	40	1	138	1	OR9G1	11	56467999	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	1034983	56467999	78538517	62	66508											
DAK	26007	broad.mit.edu	37	chr11	61109957	61109957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggggaagctggtgtgcGccggataaaggtaggtggtc	8	7	18	8	3	0	0	0	0	0	0	1	2	0	2	2	7	2	2	2	7	4	2	rs112089652	byFrequency	TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:61109957G>A	ENST00000394900.3	+	8	909	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	227	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGGTGTGCGCCGGATAAAG	0.597													18	121					0	0	0	0	A	61109957	G	A	61109957	3	1	353	1	0	0	0	0	1	0	0	0	4261	1087	38	1	706	1	DAK	11	61109957	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	4641958	61109957	73896559	63	66509											
AHNAK	79026	broad.mit.edu	37	chr11	62296029	62296029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacctccacacccacactggGacctgttaaatctccctcca	10	8	4	19	0	1	0	0	0	1	0	4	1	3	1	6	1	0	1	6	1	2	1			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:62296029G>A	ENST00000378024.4	-	5	6134	c.5860C>T	c.(5860-5862)Ccc>Tcc	p.P1954S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1954					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCACACTGGGACCTGTTAAA	0.507													19	216					0	0	0	0	A	62296029	G	A	62296029	3	1	353	1	0	0	0	0	1	0	0	0	414	1174	41	2	11932	2	AHNAK	11	62296029	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	1186072	62296029	72710487	64	66510											
PDGFD	80310	broad.mit.edu	37	chr11	103780431	103780431	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacattctcttatcgaggTggtcttgagctgcagataca	9	13	10	9	1	2	2	0	1	2	1	4	3	2	2	0	2	4	3	0	2	2	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:103780431T>A	ENST00000302251.5	-	7	1537	c.1086A>T	c.(1084-1086)ccA>ccT	p.P362P	PDGFD_ENST00000393158.2_Silent_p.P368P	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	368					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CTTATCGAGGTGGTCTTGAGC	0.458													5	94					0	0	0	0	A	103780431	T	A	103780431	2	1	353	1	0	0	0	0	0	0	0	1	11731	1683	59	5		5	PDGFD	11	103780431	Silent	SNP	T	TCGA-CV-A6JY-01A-11D-A31L-08	41484402	103780431	31226085	65	66511											
KRT8	3856	broad.mit.edu	37	chr12	53293635	53293635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagatctcagtctttgtgCgccgcaggtcatccccgtgc	6	10	11	14	3	3	1	2	0	2	1	5	2	4	1	3	1	2	1	3	1	0	1			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr12:53293635C>T	ENST00000552551.1	-	6	1337	c.905G>A	c.(904-906)cGc>cAc	p.R302H	KRT8_ENST00000546897.1_Missense_Mutation_p.R302H|KRT8_ENST00000552150.1_Missense_Mutation_p.R330H|KRT8_ENST00000293308.6_Missense_Mutation_p.R302H			P05787	K2C8_HUMAN	keratin 8	302	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCTTTGTGCGCCGCAGGTC	0.602													3	36					0	0	0	0	T	53293635	C	T	53293635	3	4	353	1	0	0	0	0	1	0	0	0	8545	768	27	1	562	1	KRT8	12	53293635	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08		53293635	80558260	66	66512											
PAN2	9924	broad.mit.edu	37	chr12	56713674	56713674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagggtgacaaactcagcatCcagacccaccaggtccccaa	14	4	8	15	0	1	2	1	1	0	1	3	2	3	2	5	2	2	1	5	2	3	0			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr12:56713674C>T	ENST00000425394.2	-	21	3308	c.2932G>A	c.(2932-2934)Gat>Aat	p.D978N	PAN2_ENST00000548043.1_Missense_Mutation_p.D978N|PAN2_ENST00000257931.5_Missense_Mutation_p.D977N|PAN2_ENST00000440411.3_Missense_Mutation_p.D974N	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	978	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AACTCAGCATCCAGACCCACC	0.493													9	40					0	0	0	0	T	56713674	C	T	56713674	3	4	353	1	0	0	0	0	1	0	0	0	11485	855	30	2	700	2	PAN2	12	56713674	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	3420039	56713674	77138221	67	66513											
IQCD	115811	broad.mit.edu	37	chr12	113645252	113645252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaacaatacctctgcattCctgttcttcattctctccgc	8	15	4	14	1	4	1	1	1	3	0	7	1	6	1	3	0	3	2	3	0	3	5			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr12:113645252C>A	ENST00000546692.1	-	2	1093	c.720G>T	c.(718-720)agG>agT	p.R240S	IQCD_ENST00000416617.2_Missense_Mutation_p.R240S|IQCD_ENST00000299732.2_Missense_Mutation_p.R240S			Q96DY2	IQCD_HUMAN	IQ motif containing D	240										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CCTCTGCATTCCTGTTCTTCA	0.343													12	43					0.0809354	0.0822514	1	0	A	113645252	C	A	113645252	3	1	353	1	0	0	0	0	1	0	0	0	7858	854	30	2	331	2	IQCD	12	113645252	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	56931578	113645252	20206643	68	66514											
WDR66	144406	broad.mit.edu	37	chr12	122361712	122361712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaggagaaaaccgaccGgatgccccaagatgaactgg	13	5	13	10	2	0	4	0	2	0	2	0	7	0	5	4	3	3	1	4	3	4	1			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr12:122361712G>A	ENST00000288912.4	+	3	1417	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	WDR66_ENST00000397454.2_Missense_Mutation_p.R188Q	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	188							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AAAACCGACCGGATGCCCCAA	0.478													18	73					0	0	0	0	A	122361712	G	A	122361712	3	1	353	1	0	0	0	0	1	0	0	0	17413	1116	39	1	569	1	WDR66	12	122361712	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	8716460	122361712	11490183	69	66515											
OR4L1	122742	broad.mit.edu	37	chr14	20528494	20528494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatctctgtgtggggctgCgtgacccagatgttcttcat	6	13	11	11	1	3	2	1	1	2	1	4	2	3	2	2	2	1	2	2	2	0	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr14:20528494C>T	ENST00000315683.1	+	1	291	c.291C>T	c.(289-291)tgC>tgT	p.C97C		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTGGGGCTGCGTGACCCAGA	0.473													9	81					0	0	0	0	T	20528494	C	T	20528494	2	4	353	1	0	0	0	0	0	0	0	1	11145	776	27	1		1	OR4L1	14	20528494	Silent	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08		20528494	86821046	70	66516											
SLC7A7	9056	broad.mit.edu	37	chr14	23243308	23243308	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcagaggcagaagacaatCgggaagaaaacgctgagcta	16	4	14	7	2	0	5	0	1	0	4	1	6	0	6	0	2	3	4	0	2	6	1			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr14:23243308C>T	ENST00000397532.3	-	9	1788	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	SLC7A7_ENST00000285850.7_Silent_p.P421P|SLC7A7_ENST00000555702.1_Silent_p.P421P|SLC7A7_ENST00000554517.1_Silent_p.P155P|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Silent_p.P421P|SLC7A7_ENST00000397529.2_Silent_p.P421P			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	421					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGAAGACAATCGGGAAGAAAA	0.493													11	50					0	0	0	0	T	23243308	C	T	23243308	2	4	353	1	0	0	0	0	0	0	0	1	14791	871	31	1		1	SLC7A7	14	23243308	Silent	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	2714814	23243308	84106232	71	66517											
AHNAK2	113146	broad.mit.edu	37	chr14	105411723	105411723	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagggagctgaatgctgagGtcagtggtcttgaggtcccc	8	9	16	8	0	2	3	1	3	1	0	3	5	3	4	2	4	2	2	2	4	2	1			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr14:105411723G>A	ENST00000333244.5	-	7	10184	c.10065C>T	c.(10063-10065)gaC>gaT	p.D3355D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3355						nucleus		p.D3355E(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAATGCTGAGGTCAGTGGTCT	0.667													32	191					0	0	0	0	A	105411723	G	A	105411723	2	1	353	1	0	0	0	0	0	0	0	1	415	1252	44	4		4	AHNAK2	14	105411723	Silent	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	82168415	105411723	1937817	72	66518											
LTK	4058	broad.mit.edu	37	chr15	41797046	41797046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgactgggagcaaggccCggtcccccctgcggtaataa	9	7	12	13	2	0	1	0	1	0	0	1	2	1	2	4	4	2	2	4	4	3	3	rs141045322		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr15:41797046C>T	ENST00000263800.6	-	17	2141	c.2045G>A	c.(2044-2046)cGg>cAg	p.R682Q	LTK_ENST00000355166.5_Missense_Mutation_p.R621Q|LTK_ENST00000453182.2_Missense_Mutation_p.R552Q|LTK_ENST00000561619.1_Missense_Mutation_p.R380Q	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	682	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GAGCAAGGCCCGGTCCCCCCT	0.587										TSP Lung(18;0.14)			16	51					0	0	0	0	T	41797046	C	T	41797046	3	4	353	1	0	0	0	0	1	0	0	0	9144	652	23	1	565	1	LTK	15	41797046	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08		41797046	60734346	73	66519											
ANKDD1A	348094	broad.mit.edu	37	chr15	65239681	65239681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaagcaggaccatcggcagGaaacacagcagctccgttct	12	7	10	12	2	1	0	0	0	1	0	3	2	2	2	2	3	4	5	2	3	2	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr15:65239681G>A	ENST00000380230.3	+	13	1248	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	ANKDD1A_ENST00000395720.1_Missense_Mutation_p.E407K|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.E284K|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.E375K	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	407					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CCATCGGCAGGAAACACAGCA	0.582													5	20					0	0	0	0	A	65239681	G	A	65239681	3	1	353	1	0	0	0	0	1	0	0	0	624	1175	41	2	1269	2	ANKDD1A	15	65239681	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	23442635	65239681	37291711	74	66520											
LMAN1L	79748	broad.mit.edu	37	chr15	75116019	75116019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaggagcttcggggccCggcggtgaggggaaagtagt	8	5	21	7	3	0	1	0	1	0	0	1	4	0	4	1	8	1	3	1	8	2	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr15:75116019C>T	ENST00000309664.5	+	12	1458	c.1319C>T	c.(1318-1320)cCg>cTg	p.P440L	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.P428L	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	440						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCGGGGCCCGGCGGTGAGG	0.627													4	68					0	0	0	0	T	75116019	C	T	75116019	3	4	353	1	0	0	0	0	1	0	0	0	8892	652	23	1	1365	1	LMAN1L	15	75116019	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	9876338	75116019	27415373	75	66521											
NTHL1	4913	broad.mit.edu	37	chr16	2089926	2089926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccagagccatgcggccatCagagaccctgggcggccggg	7	3	17	14	3	1	2	1	0	0	2	1	3	1	2	5	5	2	0	5	5	0	0			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr16:2089926C>T	ENST00000219066.1	-	6	956	c.938G>A	c.(937-939)tGa>tAa	p.*313*	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	0					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						ATGCGGCCATCAGAGACCCTG	0.637								Base excision repair (BER), DNA glycosylases					12	49					0	0	0	0	T	2089926	C	T	2089926	2	4	353	1	0	0	0	0	0	0	0	1	10769	837	29	2		2	NTHL1	16	2089926	Silent	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08		2089926	88264827	76	66522											
XPO6	23214	broad.mit.edu	37	chr16	28167759	28167759	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccaaagccagggaacagaTatactcactctccacatcaa	15	7	5	14	0	3	1	2	0	1	1	5	2	4	2	3	1	3	0	3	1	5	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr16:28167759T>C	ENST00000304658.5	-	7	1233	c.733A>G	c.(733-735)Atc>Gtc	p.I245V	XPO6_ENST00000565698.1_Missense_Mutation_p.I231V	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	245					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AGGGAACAGATATACTCACTC	0.493													6	67					0	0	0	0	C	28167759	T	C	28167759	3	2	353	1	0	0	0	0	1	0	0	0	17544	1406	49	5	2716	5	XPO6	16	28167759	Missense_Mutation	SNP	T	TCGA-CV-A6JY-01A-11D-A31L-08	26077833	28167759	62186994	77	66523											
ITGAL	3683	broad.mit.edu	37	chr16	30490668	30490668	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaatgtatcaagggcaaCgtagacctggtatttctgtt	11	12	11	7	1	2	2	1	0	1	2	2	2	2	2	1	2	1	6	1	2	6	5			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr16:30490668C>T	ENST00000356798.6	+	6	642	c.462C>T	c.(460-462)aaC>aaT	p.N154N	ITGAL_ENST00000454514.2_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	154					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TCAAGGGCAACGTAGACCTGG	0.473													3	42					0	0	0	0	T	30490668	C	T	30490668	2	4	353	1	0	0	0	0	0	0	0	1	7939	535	19	1		1	ITGAL	16	30490668	Silent	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	2322909	30490668	59864085	78	66524											
TP53	7157	broad.mit.edu	37	chr17	7578495	7578496	+	Frame_Shift_Ins	INS	-	-	A																															ggggtgtggaatcaacccacINSagctgcacagggcaggtctt																										TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:7578495_7578496insA	ENST00000420246.2	-	5	566_567	c.434_435insT	c.(433-435)ctgfs	p.L145fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.L145fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.L145fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.L145fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.L145fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.L145fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	145	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L145Q(17)|p.L145P(17)|p.0?(8)|p.L145R(7)|p.L145L(4)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.L145del(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AATCAACCCACAGCTGCACAGG	0.604		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	35	---	---	---	---					A	7578496	-	A	7578495	7	5	353	1	0	1	1	0	0	0	0	0	16476	465	17	0	863	0	TP53	17	7578495	Frame_Shift_Ins	INS	-	TCGA-CV-A6JY-01A-11D-A31L-08		7578495	73616715	79	66525											
CDRT1	374286	broad.mit.edu	37	chr17	15496704	15496704	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctctgccattggctttTatcaccttcatacagttccc	6	15	5	15	1	3	0	2	0	1	0	5	0	4	0	4	1	2	2	4	1	2	6			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:15496704T>C	ENST00000395906.3	-	11	1952	c.1953A>G	c.(1951-1953)atA>atG	p.I651M	RP11-385D13.1_ENST00000455584.2_Intron|CDRT1_ENST00000354433.3_Missense_Mutation_p.I151M|CDRT1_ENST00000583965.1_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	651										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CATTGGCTTTTATCACCTTCA	0.498													28	296					0	0	0	0	C	15496704	T	C	15496704	3	2	353	1	0	0	0	0	1	0	0	0	3203	1744	61	5	313	5	CDRT1	17	15496704	Missense_Mutation	SNP	T	TCGA-CV-A6JY-01A-11D-A31L-08	7918209	15496704	65698506	80	66526											
SEZ6	124925	broad.mit.edu	37	chr17	27296946	27296946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacagtcactgtctcccCttcccggaggctgatattct	6	13	7	15	1	3	1	1	1	2	0	6	2	5	2	4	2	0	1	4	2	1	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:27296946C>T	ENST00000317338.12	-	4	1311	c.883G>A	c.(883-885)Ggg>Agg	p.G295R	SEZ6_ENST00000442608.3_Missense_Mutation_p.G295R|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.G295R|SEZ6_ENST00000360295.9_Missense_Mutation_p.G295R			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	295						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ACTGTCTCCCCTTCCCGGAGG	0.602													13	25					0	0	0	0	T	27296946	C	T	27296946	3	4	353	1	0	0	0	0	1	0	0	0	14229	681	24	4	2170	4	SEZ6	17	27296946	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	11800242	27296946	53898264	81	66527											
LRRC37B	114659	broad.mit.edu	37	chr17	30349045	30349045	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcttctacagctccctcagGaggtagaaccttcaacccag	11	8	8	14	0	3	1	2	0	1	1	4	2	4	2	3	2	5	3	3	2	4	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:30349045G>T	ENST00000327564.7	+	1	1022	c.961G>T	c.(961-963)Gag>Tag	p.E321*	LRRC37B_ENST00000341671.7_Nonsense_Mutation_p.E294*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.E294*|LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.E306*|LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.E212*			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	294						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCTCCCTCAGGAGGTAGAACC	0.527													25	64					1.42536e-11	1.63458e-11	1	0	T	30349045	G	T	30349045	4	4	353	1	0	0	0	0	0	1	0	0	9058	1175	41	2	882	2	LRRC37B	17	30349045	Nonsense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	3052099	30349045	50846165	82	66528											
TAF15	8148	broad.mit.edu	37	chr17	34171897	34171897	+	Nonsense_Mutation	SNP	G	G	T																															acagaagccgggggggctatGgaggagaccgtggtggtggc																										TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:34171897G>T	ENST00000588240.1	+	15	1709	c.1594G>T	c.(1594-1596)Gga>Tga	p.G532*	TAF15_ENST00000592237.1_Missense_Mutation_p.M336I|TAF15_ENST00000311979.3_Nonsense_Mutation_p.G529*	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	532	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGGGGGCTATGGAGGAGACCG	0.617			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								27	72					3.73148e-12	4.31884e-12	1	0	T	34171897	G	T	34171897	4	4	353	1	0	0	0	0	0	1	0	0	15609	1349	47	4	1652	4	TAF15	17	34171897	Nonsense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	3822852	34171897	47023313	83	66529	821	2									
TAF15	8148	broad.mit.edu	37	chr17	34171898	34171898	+	Nonsense_Mutation	SNP	G	G	T																															cagaagccgggggggctatgGaggagaccgtggtggtggca																										TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:34171898G>T	ENST00000592237.1	+	18	1538	c.1009G>T	c.(1009-1011)Gag>Tag	p.E337*	TAF15_ENST00000588240.1_Missense_Mutation_p.G532V|TAF15_ENST00000311979.3_Missense_Mutation_p.G529V			Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	347	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGGGGCTATGGAGGAGACCGT	0.622			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								28	72					3.1745e-13	3.74351e-13	1	0	T	34171898	G	T	34171898	4	4	353	1	0	0	0	0	0	1	0	0	15609	1174	41	2	1653	2	TAF15	17	34171898	Nonsense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	1	34171898	47023312	84	66530	821	2									
MED1	5469	broad.mit.edu	37	chr17	37565024	37565024	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagaggagcctggcttcccCccagactgggatgaattttt	8	10	13	10	0	0	3	0	1	0	2	1	6	1	5	4	4	1	1	4	4	1	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:37565024C>T	ENST00000300651.6	-	17	3673	c.3450G>A	c.(3448-3450)ggG>ggA	p.G1150G	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1150	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTGGCTTCCCCCCAGACTGGG	0.473										HNSCC(31;0.082)			3	29					0	0	0	0	T	37565024	C	T	37565024	2	4	353	1	0	0	0	0	0	0	0	1	9494	610	22	4		4	MED1	17	37565024	Silent	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	3393126	37565024	43630186	85	66531											
GPATCH8	23131	broad.mit.edu	37	chr17	42476499	42476499	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctatagctccggctccgttgCcagctgtgggctgtggtgct	3	12	14	12	2	0	0	0	0	0	0	2	0	2	0	3	3	4	6	3	3	2	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:42476499C>T	ENST00000434000.1	-	9	2994	c.2712G>A	c.(2710-2712)tgG>tgA	p.W904*	GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.W982*			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	982	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGCTCCGTTGCCAGCTGTGGG	0.637													14	29					0	0	0	0	T	42476499	C	T	42476499	4	4	353	1	0	0	0	0	0	1	0	0	6643	740	26	4	1566	4	GPATCH8	17	42476499	Nonsense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	4911475	42476499	38718711	86	66532											
MYCBPAP	84073	broad.mit.edu	37	chr17	48594771	48594771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctgccaccttgtagcacgtCctgcgaatcctgatgaagcc	8	10	9	14	2	1	2	0	2	1	0	3	3	3	2	5	0	4	2	5	0	3	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:48594771C>G	ENST00000323776.5	+	3	613	c.451C>G	c.(451-453)Cct>Gct	p.P151A	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.P114A	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	114					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGTAGCACGTCCTGCGAATCC	0.493													27	90					0	0	0	0	G	48594771	C	G	48594771	3	3	353	1	0	0	0	0	1	0	0	0	10089	855	30	2	461	2	MYCBPAP	17	48594771	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	6118272	48594771	32600439	87	66533											
CACNA1G	8913	broad.mit.edu	37	chr17	48685231	48685231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgctgctgtacttcatctCgttcctgctcattgtggcct	4	16	9	12	1	3	0	2	0	1	0	5	1	4	0	2	1	4	5	2	1	1	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:48685231C>T	ENST00000352832.5	+	24	4859	c.4487C>T	c.(4486-4488)tCg>tTg	p.S1496L	CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1519L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1496L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1496L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1496L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1519L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1496L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1519L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1496L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1496L|CACNA1G_ENST00000510366.1_Intron	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1519					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TACTTCATCTCGTTCCTGCTC	0.577													20	49					0	0	0	0	T	48685231	C	T	48685231	3	4	353	1	0	0	0	0	1	0	0	0	2569	893	31	1	4900	1	CACNA1G	17	48685231	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	90460	48685231	32509979	88	66534											
XAB2	56949	broad.mit.edu	37	chr19	7690907	7690907	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtccggattctgggagatGaggtcgcacagctcgtgcca	7	10	14	10	3	1	2	0	1	1	1	4	4	2	3	2	3	2	2	2	3	0	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:7690907G>C	ENST00000358368.4	-	6	718	c.681C>G	c.(679-681)ctC>ctG	p.L227L	XAB2_ENST00000534844.1_Silent_p.L224L	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	227					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TCTGGGAGATGAGGTCGCACA	0.647								Direct reversal of damage;Nucleotide excision repair (NER)					3	53					0	0	0	0	C	7690907	G	C	7690907	2	2	353	1	0	0	0	0	0	0	0	1	17514	1277	45	2		2	XAB2	19	7690907	Silent	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08		7690907	51438076	89	66535											
MARCH2	51257	broad.mit.edu	37	chr19	8495604	8495604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgcgacatggtgtgtttCctgttcatcacaccgctggc	5	13	11	12	2	2	0	2	0	0	0	3	1	3	0	2	2	2	4	2	2	0	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:8495604C>A	ENST00000602117.1	+	4	890	c.435C>A	c.(433-435)ttC>ttA	p.F145L	MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000393944.1_Missense_Mutation_p.F145L|MARCH2_ENST00000381035.4_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.F145L			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	145					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						TGGTGTGTTTCCTGTTCATCA	0.677													23	48					7.33532e-06	7.97317e-06	1	0	A	8495604	C	A	8495604	3	1	353	1	0	0	0	0	1	0	0	0	9370	854	30	2	445	2	MARCH2	19	8495604	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	804697	8495604	50633379	90	66536											
CPAMD8	27151	broad.mit.edu	37	chr19	17015155	17015155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagggcgtaggctgtcatttCcacctcggccgagaccactg	8	8	12	13	3	1	1	1	0	0	1	3	2	2	1	4	3	0	2	4	3	2	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:17015155C>T	ENST00000443236.1	-	32	4304	c.4273G>A	c.(4273-4275)Gaa>Aaa	p.E1425K		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1378						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCTGTCATTTCCACCTCGGCC	0.612													4	79					0	0	0	0	T	17015155	C	T	17015155	3	4	353	1	0	0	0	0	1	0	0	0	3825	864	30	2	1569	2	CPAMD8	19	17015155	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	8519551	17015155	42113828	91	66537											
MYO9B	4650	broad.mit.edu	37	chr19	17322584	17322584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggcggggggcctcggaagGtcagtattaaggtagcgtct	7	8	18	8	4	2	0	1	0	1	0	3	1	2	1	1	7	1	2	1	7	4	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:17322584G>A	ENST00000595618.1	+	39	6211	c.6059G>A	c.(6058-6060)gGt>gAt	p.G2020D	MYO9B_ENST00000594824.1_Splice_Site|MYO9B_ENST00000397274.2_Missense_Mutation_p.G2020D	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	2020	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCTCGGAAGGTCAGTATTAA	0.677													5	37					0	0	0	0	A	17322584	G	A	17322584	3	1	353	1	0	0	0	0	1	0	0	0	10155	1275	44	4	6209	4	MYO9B	19	17322584	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	307429	17322584	41806399	92	66538											
NFKBID	84807	broad.mit.edu	37	chr19	36380799	36380799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgcttacttaccccctcaGggcccggcccgggccgcagc	5	6	12	18	3	1	0	1	0	0	0	1	0	1	0	5	3	4	2	5	3	2	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:36380799G>A	ENST00000396901.1	-	11	1454	c.881C>T	c.(880-882)cCt>cTt	p.P294L	NFKBID_ENST00000352614.2_Missense_Mutation_p.P446L|NFKBID_ENST00000606253.1_Missense_Mutation_p.P294L|NFKBID_ENST00000340950.2_Missense_Mutation_p.P131L	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	294					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						TACCCCCTCAGGGCCCGGCCC	0.672													9	104					0	0	0	0	A	36380799	G	A	36380799	3	1	353	1	0	0	0	0	1	0	0	0	10449	1000	35	4	68	4	NFKBID	19	36380799	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	19058215	36380799	22748184	93	66539											
FBXO27	126433	broad.mit.edu	37	chr19	39521925	39521925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcctccaccacccagccgtCcccaccgtgttgcaccatcc	6	8	5	22	2	0	0	0	0	0	0	4	0	4	0	10	0	2	2	10	0	0	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:39521925C>T	ENST00000292853.4	-	3	519	c.400G>A	c.(400-402)Gac>Aac	p.D134N	CTB-189B5.3_ENST00000597303.1_RNA|FBXO27_ENST00000509137.2_Missense_Mutation_p.D134N|FBXO27_ENST00000600828.1_Missense_Mutation_p.D133N	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	134	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCCAGCCGTCCCCACCGTGT	0.567													9	71					0	0	0	0	T	39521925	C	T	39521925	3	4	353	1	0	0	0	0	1	0	0	0	5782	855	30	2	467	2	FBXO27	19	39521925	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	3141126	39521925	19607058	94	66540											
GRIN2D	2906	broad.mit.edu	37	chr19	48917266	48917266	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtacttcatgaacatcacGtgggataaccgggattactc	12	10	10	9	2	2	1	2	1	0	0	3	3	2	3	1	3	4	1	1	3	4	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:48917266G>T	ENST00000263269.3	+	4	1192	c.1104G>T	c.(1102-1104)acG>acT	p.T368T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	368						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TGAACATCACGTGGGATAACC	0.587													3	19					0.115264	0.116194	1	0	T	48917266	G	T	48917266	2	4	353	1	0	0	0	0	0	0	0	1	6832	1132	40	3		3	GRIN2D	19	48917266	Silent	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	9395341	48917266	10211717	95	66541											
NLRP5	126206	broad.mit.edu	37	chr19	56539850	56539850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccaagagatgagtccgctGaggcatgtcctgtggtccct	7	10	12	12	1	0	3	0	2	0	1	4	4	4	3	4	2	0	2	4	2	1	0			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:56539850G>A	ENST00000390649.3	+	7	2251	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	751						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGTCCGCTGAGGCATGTCC	0.522													8	188					0	0	0	0	A	56539850	G	A	56539850	3	1	353	1	0	0	0	0	1	0	0	0	10550	1291	45	2	2277	2	NLRP5	19	56539850	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	7622584	56539850	2589133	96	66542											
ZBTB45	84878	broad.mit.edu	37	chr19	59028764	59028764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcaccctgcgccacaaCgagcgaaccgctgtacagga	10	5	11	15	4	1	0	1	0	0	0	1	3	1	1	3	2	5	3	3	2	3	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:59028764C>T	ENST00000594051.1	-	2	757	c.277G>A	c.(277-279)Gtt>Att	p.V93I	ZBTB45_ENST00000600990.1_Missense_Mutation_p.V93I|ZBTB45_ENST00000354590.3_Missense_Mutation_p.V93I			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	93	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TGCGCCACAACGAGCGAACCG	0.622											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	61					0	0	0	0	T	59028764	C	T	59028764	3	4	353	1	0	0	0	0	1	0	0	0	17641	536	19	1	1266	1	ZBTB45	19	59028764	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	2488914	59028764	100219	97	66543											
DEFB129	140881	broad.mit.edu	37	chr20	210311	210311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaccaagagtaacaccaaaGaaagcagagattctgccact	17	6	7	11	0	1	3	0	0	1	3	1	4	1	3	3	0	4	2	3	0	5	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr20:210311G>A	ENST00000246105.4	+	2	482	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	151					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TAACACCAAAGAAAGCAGAGA	0.507													22	48					0	0	0	0	A	210311	G	A	210311	3	1	353	1	0	0	0	0	1	0	0	0	4451	943	33	2	457	2	DEFB129	20	210311	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08		210311	62815209	98	66544											
ASXL1	171023	broad.mit.edu	37	chr20	31022592	31022592	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtacgtcagatctacagCgaacacaactactgccgcct	12	8	8	13	3	2	1	1	0	1	1	2	2	2	1	2	0	7	1	2	0	5	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr20:31022592C>T	ENST00000375687.4	+	13	2501	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.R688*	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	693					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.R693*(7)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGATCTACAGCGAACACAACT	0.592			"F, N, Mis"		"MDS, CMML"								13	35					0	0	0	0	T	31022592	C	T	31022592	4	4	353	1	0	0	0	0	0	1	0	0	1070	760	27	1	2133	1	ASXL1	20	31022592	Nonsense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	30812281	31022592	32002928	99	66545											
LPIN3	64900	broad.mit.edu	37	chr20	39987369	39987369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctgcctgtaggtatgagCggcttggtgaagtggtcgag	6	12	16	7	2	1	2	0	2	1	0	2	3	1	2	1	4	2	3	1	4	3	4			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr20:39987369C>T	ENST00000373257.3	+	20	2510	c.2419C>T	c.(2419-2421)Cgg>Tgg	p.R807W	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	807					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TAGGTATGAGCGGCTTGGTGA	0.612													6	90					0	0	0	0	T	39987369	C	T	39987369	3	4	353	1	0	0	0	0	1	0	0	0	8984	759	27	1	2493	1	LPIN3	20	39987369	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	8964777	39987369	23038151	100	66546											
CHD6	84181	broad.mit.edu	37	chr20	40045413	40045413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtggcagatattatctaGgcggttaattatcacgcggt	10	12	11	8	4	2	1	1	0	1	1	2	1	2	1	0	4	0	2	0	4	5	5			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr20:40045413G>C	ENST00000373233.3	-	33	6478	c.6301C>G	c.(6301-6303)Cta>Gta	p.L2101V		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2101					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ATATTATCTAGGCGGTTAATT	0.468													7	18					0	0	0	0	C	40045413	G	C	40045413	3	2	353	1	0	0	0	0	1	0	0	0	3358	991	35	4	1866	4	CHD6	20	40045413	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	58044	40045413	22980107	101	66547											
AP1B1	162	broad.mit.edu	37	chr22	29736732	29736732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccgctcactggggggccGaggtccaggttgaggaggtc	5	6	20	10	2	1	1	1	1	0	0	3	3	2	2	3	8	0	2	3	8	0	1			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr22:29736732G>A	ENST00000357586.2	-	14	2097	c.1911C>T	c.(1909-1911)ctC>ctT	p.L637L	AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Silent_p.L637L|AP1B1_ENST00000432560.2_Silent_p.L637L|AP1B1_ENST00000356015.2_Silent_p.L637L|AP1B1_ENST00000405198.1_Silent_p.L637L|AP1B1_ENST00000415447.1_Silent_p.L637L|AP1B1_ENST00000402502.1_Silent_p.L637L	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	637	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGGGGGGCCGAGGTCCAGGT	0.672													3	9					0	0	0	0	A	29736732	G	A	29736732	2	1	353	1	0	0	0	0	0	0	0	1	732	1045	37	1		1	AP1B1	22	29736732	Silent	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08		29736732	21567834	102	66548											
MEI1	150365	broad.mit.edu	37	chr22	42190404	42190404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcctcccagccttggaatCggtttttgctgtttaccctc	4	15	9	13	1	0	0	0	0	0	0	3	1	1	1	4	3	3	3	4	3	2	5			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr22:42190404C>T	ENST00000401548.3	+	28	3497	c.3457C>T	c.(3457-3459)Cgg>Tgg	p.R1153W	MEI1_ENST00000400107.1_Missense_Mutation_p.R486W|MEI1_ENST00000300398.4_Missense_Mutation_p.R161W|MEI1_ENST00000476893.1_3'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1153							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCTTGGAATCGGTTTTTGCT	0.493													9	112					0	0	0	0	T	42190404	C	T	42190404	3	4	353	1	0	0	0	0	1	0	0	0	9534	875	31	1	3567	1	MEI1	22	42190404	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	12453672	42190404	9114162	103	66549											
FAM47B	170062	broad.mit.edu	37	chrX	34961658	34961658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggtgtccagtctccaccCggaacctccagagactcgcg	7	7	11	16	4	1	1	0	0	1	1	6	3	3	2	5	2	1	0	5	2	1	0			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chrX:34961658C>T	ENST00000329357.5	+	1	746	c.710C>T	c.(709-711)cCg>cTg	p.P237L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	237	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGTCTCCACCCGGAACCTCCA	0.642													5	45					0	0	0	0	T	34961658	C	T	34961658	3	4	353	1	0	0	0	0	1	0	0	0	5617	652	23	1	712	1	FAM47B	23	34961658	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08		34961658	120308902	104	66550											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298775	125298775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaggaacttctgggcgCggatgtcatagaagagcagg	10	7	14	10	2	2	2	1	0	1	2	3	4	3	4	2	4	2	1	2	4	3	2			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chrX:125298775C>T	ENST00000538699.1	-	2	1213	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R378H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	378								p.R378H(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTTCTGGGCGCGGATGTCATA	0.642													15	71					0	0	0	0	T	125298775	C	T	125298775	3	4	353	1	0	0	0	0	1	0	0	0	4298	768	27	1	262	1	DCAF12L2	23	125298775	Missense_Mutation	SNP	C	TCGA-CV-A6JY-01A-11D-A31L-08	90337117	125298775	29971785	105	66551											
GPC3	2719	broad.mit.edu	37	chrX	133087227	133087227	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccttagggagacatacttGcaaatctgatcctgaaacaa	14	9	8	10	0	1	3	0	2	1	1	2	4	2	3	2	1	3	1	2	1	5	3			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chrX:133087227G>C	ENST00000370818.3	-	2	632	c.187C>G	c.(187-189)Caa>Gaa	p.Q63E	GPC3_ENST00000394299.2_Missense_Mutation_p.Q63E|GPC3_ENST00000543339.1_Intron	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	63						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGACATACTTGCAAATCTGAT	0.473			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				10	74					0	0	0	0	C	133087227	G	C	133087227	3	2	353	1	0	0	0	0	1	0	0	0	6648	1328	46	4	1656	4	GPC3	23	133087227	Missense_Mutation	SNP	G	TCGA-CV-A6JY-01A-11D-A31L-08	7788452	133087227	22183333	106	66552											
NPHP4	261734	broad.mit.edu	37	chr1	5923971	5923971	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggaaggagtcctctctgaaCcgcagcagctccgggtggtc	7	8	14	12	2	1	1	0	1	1	0	5	3	3	3	3	4	3	3	3	4	2	0			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:5923971C>T	ENST00000378156.4	-	29	4384	c.4119G>A	c.(4117-4119)cgG>cgA	p.R1373R	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1373					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTCTGAACCGCAGCAGCT	0.622													12	45					0	0	0	0	T	5923971	C	T	5923971	2	4	354	1	0	0	0	0	0	0	0	1	10651	494	18	4		4	NPHP4	1	5923971	Silent	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08		5923971	243326650	1	66553											
TAS1R1	80835	broad.mit.edu	37	chr1	6639390	6639390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttgccagagaactacaacGaggccaaatgtgtcaccttc	13	8	8	12	1	1	1	1	0	0	1	2	3	1	1	3	1	4	0	3	1	4	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:6639390G>A	ENST00000333172.6	+	6	2465	c.2272G>A	c.(2272-2274)Gag>Aag	p.E758K	TAS1R1_ENST00000351136.3_Missense_Mutation_p.E504K|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	758					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAACTACAACGAGGCCAAATG	0.572													4	61					0	0	0	0	A	6639390	G	A	6639390	3	1	354	1	0	0	0	0	1	0	0	0	15653	1059	37	1	2294	1	TAS1R1	1	6639390	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	715419	6639390	242611231	2	66554											
RPS6KA1	6195	broad.mit.edu	37	chr1	26883512	26883512	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctataccgtcgtgagatcaaGccacccttcaagccagcagt	11	8	8	14	2	2	1	2	1	0	1	3	2	2	1	4	0	4	1	4	0	4	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:26883512G>A	ENST00000374168.2	+	13	1159	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	RPS6KA1_ENST00000488985.1_3'UTR|RPS6KA1_ENST00000374162.2_Silent_p.K243K|RPS6KA1_ENST00000531382.1_Silent_p.K344K|RPS6KA1_ENST00000526792.1_Silent_p.K243K|RPS6KA1_ENST00000530003.1_Silent_p.K319K|RPS6KA1_ENST00000374166.4_Silent_p.K324K	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	335	AGC-kinase C-terminal.		K -> T (in dbSNP:rs2229712).		axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTGAGATCAAGCCACCCTTCA	0.582													16	71					0	0	0	0	A	26883512	G	A	26883512	2	1	354	1	0	0	0	0	0	0	0	1	13735	962	34	4		4	RPS6KA1	1	26883512	Silent	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	20244122	26883512	222367109	3	66555											
HYI	81888	broad.mit.edu	37	chr1	43917513	43917513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaccttctgtaagatggCtgccgctgtaagagaagcca	10	10	10	11	1	1	2	0	0	1	2	2	3	2	2	4	1	3	4	4	1	4	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:43917513C>T	ENST00000372425.4	-	5	706	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000486909.1_Missense_Mutation_p.A171T|HYI_ENST00000372426.1_Missense_Mutation_p.A123T|HYI_ENST00000372434.1_Missense_Mutation_p.A196T|HYI_ENST00000583037.1_Missense_Mutation_p.A98T|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372432.1_Missense_Mutation_p.A171T			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	171							hydroxypyruvate isomerase activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTAAGATGGCTGCCGCTGTA	0.582													3	38					0	0	0	0	T	43917513	C	T	43917513	3	4	354	1	0	0	0	0	1	0	0	0	7521	797	28	4	338	4	HYI	1	43917513	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	17034001	43917513	205333108	4	66556											
PTCH2	8643	broad.mit.edu	37	chr1	45295175	45295184	+	Frame_Shift_Del	DEL	AAGCGTTCTC	AAGCGTTCTC	-																															gaaggcatggatctgctgggAagcgttctcaggcagggcct																										TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:45295175_45295184delAAGCGTTCTC	ENST00000447098.2	-	9	1116_1125	c.1105_1114delGAGAACGCTT	c.(1105-1116)ccfs	p.ENAS369fs	PTCH2_ENST00000372192.3_Frame_Shift_Del_p.ENAS369fs	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	369					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					ATCTGCTGGGAAGCGTTCTCAGGCAGGGCC	0.61									Basal Cell Nevus syndrome				28	142	---	---	---	---					-	45295184	AAGCGTTCTC	-	45295175	7	5	354	1	0	1	0	1	0	0	0	0	12810	246	9	0	2573	0	PTCH2	1	45295175	Frame_Shift_Del	DEL	AAGCGTTCTC	TCGA-CV-A6JZ-01A-11D-A31L-08	1377662	45295175	203955446	5	66557											
INADL	10207	broad.mit.edu	37	chr1	62455839	62455839	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaaaattcttttaataGaaaaaatcagacaaagatat	23	12	3	3	0	2	3	1	0	1	3	2	3	2	3	0	0	0	0	0	0	11	6			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:62455839G>T	ENST00000371158.2	+	28	3784		c.e28-1		INADL_ENST00000545929.1_Splice_Site|INADL_ENST00000543708.1_Splice_Site|INADL_ENST00000316485.6_Splice_Site	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)						intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						tcttttaatagaaaaaatCAG	0.333													11	27					2.80697e-09	3.07072e-09	1	0	T	62455839	G	T	62455839	5	4	354	1	0	0	0	0	0	0	1	0	7784	956	33	2	3776	2	INADL	1	62455839	Splice_Site	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	17160664	62455839	186794782	6	66558											
PKN2	5586	broad.mit.edu	37	chr1	89225962	89225962	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgttgttctactagcaacaAtagattgaaggccttacaaa	14	12	7	8	1	1	2	0	1	1	1	2	2	1	2	1	1	4	3	1	1	8	7			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:89225962A>T	ENST00000370521.3	+	3	766	c.407A>T	c.(406-408)aAt>aTt	p.N136I	PKN2_ENST00000370513.5_Missense_Mutation_p.N136I|PKN2_ENST00000316005.7_Missense_Mutation_p.N136I|PKN2_ENST00000370505.3_5'UTR	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	136					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ACTAGCAACAATAGATTGAAG	0.313													15	71					0	0	0	0	T	89225962	A	T	89225962	3	4	354	1	0	0	0	0	1	0	0	0	12052	101	4	5	417	5	PKN2	1	89225962	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	26770123	89225962	160024659	7	66559											
DPH5	51611	broad.mit.edu	37	chr1	101487279	101487279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgcttcttgttccacttCttctctatcagcaacaacca	9	15	3	14	0	5	0	1	0	4	0	7	0	6	0	2	0	4	3	2	0	3	6			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:101487279C>T	ENST00000370109.3	-	3	290	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Missense_Mutation_p.E60K|DPH5_ENST00000488176.1_Missense_Mutation_p.E60K	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	60					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	p.E60*(1)		endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TGTTCCACTTCTTCTCTATCA	0.373													6	47					0	0	0	0	T	101487279	C	T	101487279	3	4	354	1	0	0	0	0	1	0	0	0	4759	922	32	2	703	2	DPH5	1	101487279	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	12261317	101487279	147763342	8	66560											
CASQ2	845	broad.mit.edu	37	chr1	116287494	116287494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttggcatccaccatcaCaaagcctatagctttatgtt	10	15	5	11	0	2	0	1	0	1	0	3	0	3	0	3	1	2	3	3	1	4	7			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:116287494C>T	ENST00000261448.5	-	2	513	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	CASQ2_ENST00000456138.2_Missense_Mutation_p.V92M	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	92					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCCACCATCACAAAGCCTATA	0.413													3	15					0	0	0	0	T	116287494	C	T	116287494	3	4	354	1	0	0	0	0	1	0	0	0	2706	478	17	4	965	4	CASQ2	1	116287494	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	14800215	116287494	132963127	9	66561											
BCL9	607	broad.mit.edu	37	chr1	147084947	147084947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaagtatttccgccgacTcctttgatcagagagatcct	10	11	9	11	3	1	3	1	1	0	2	4	6	4	3	4	0	1	1	4	0	2	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:147084947T>C	ENST00000234739.3	+	5	1059	c.319T>C	c.(319-321)Tcc>Ccc	p.S107P	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	107					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCGCCGACTCCTTTGATCA	0.512			T	"IGH@, IGL@"	B-ALL								15	52					0	0	0	0	C	147084947	T	C	147084947	3	2	354	1	0	0	0	0	1	0	0	0	1385	1551	54	5	325	5	BCL9	1	147084947	Missense_Mutation	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08	30797453	147084947	102165674	10	66562											
C1orf112	55732	broad.mit.edu	37	chr1	169796918	169796918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatggataagctgccatCtcagcctaaggaagtgcaaa	13	9	10	9	0	2	0	2	0	1	0	3	2	2	2	2	2	4	2	2	2	4	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:169796918C>A	ENST00000286031.6	+	12	1764	c.1064C>A	c.(1063-1065)tCt>tAt	p.S355Y	C1orf112_ENST00000413811.2_Intron|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.S355Y	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	355										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGCTGCCATCTCAGCCTAAG	0.428													74	360					1.3515e-34	1.61981e-34	1	0	A	169796918	C	A	169796918	3	1	354	1	0	0	0	0	1	0	0	0	2004	913	32	2	1102	2	C1orf112	1	169796918	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	22711971	169796918	79453703	11	66563											
LGR6	59352	broad.mit.edu	37	chr1	202194570	202194570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacctcagcatgaacaacCtcacagagcttcagcctggc	11	6	10	14	0	3	2	3	1	0	1	3	3	3	3	3	2	5	2	3	2	2	1			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:202194570C>A	ENST00000367278.3	+	2	321	c.232C>A	c.(232-234)Ctc>Atc	p.L78I	LGR6_ENST00000439764.2_Missense_Mutation_p.L35I|LGR6_ENST00000255432.7_Missense_Mutation_p.L26I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	78						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CATGAACAACCTCACAGAGCT	0.577													25	131					2.08457e-15	2.42703e-15	1	0	A	202194570	C	A	202194570	3	1	354	1	0	0	0	0	1	0	0	0	8812	681	24	4	385	4	LGR6	1	202194570	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	32397652	202194570	47056051	12	66564											
ITPKB	3707	broad.mit.edu	37	chr1	226822564	226822564	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttccttcttgtcgtggatGaagaggagggagctgccaat	8	12	14	7	1	1	2	0	1	1	1	3	5	2	5	2	3	2	2	2	3	2	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:226822564G>A	ENST00000429204.1	-	8	2976	c.2649C>T	c.(2647-2649)ttC>ttT	p.F883F	ITPKB_ENST00000272117.3_Silent_p.F883F	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	883							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGTCGTGGATGAAGAGGAGGG	0.637													6	23					0	0	0	0	A	226822564	G	A	226822564	2	1	354	1	0	0	0	0	0	0	0	1	7971	1281	45	2		2	ITPKB	1	226822564	Silent	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	24627994	226822564	22428057	13	66565											
OR2C3	81472	broad.mit.edu	37	chr1	247695767	247695767	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcgtgtggagaagcccAggaggacaaagacttctgga	12	6	16	7	1	1	2	0	0	1	2	2	6	1	5	1	5	1	0	1	5	2	1			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr1:247695767A>T	ENST00000366487.3	-	2	408	c.47T>A	c.(46-48)cTg>cAg	p.L16Q	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGAGAAGCCCAGGAGGACAAA	0.488													16	56					0	0	0	0	T	247695767	A	T	247695767	3	4	354	1	0	0	0	0	1	0	0	0	11064	188	7	5	919	5	OR2C3	1	247695767	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	20873203	247695767	1554854	14	66566											
APOB	338	broad.mit.edu	37	chr2	21231802	21231802	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatggtaaattctggtgtGgaaaacctggatgggatttt	11	13	14	3	0	1	0	0	0	1	0	1	4	1	4	1	6	1	1	1	6	4	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:21231802G>T	ENST00000233242.1	-	26	8065	c.7938C>A	c.(7936-7938)tcC>tcA	p.S2646S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2646					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATTCTGGTGTGGAAAACCTGG	0.358													23	157					2.65835e-16	3.11734e-16	1	0	T	21231802	G	T	21231802	2	4	354	1	0	0	0	0	0	0	0	1	787	1335	47	4		4	APOB	2	21231802	Silent	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08		21231802	221967571	15	66567											
KCNK3	3777	broad.mit.edu	37	chr2	26950718	26950721	+	Frame_Shift_Del	DEL	TGGC	TGGC	-																															gcggcgcgccgacgtgtccaTggccaacatggtgctcatcg																										TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:26950718_26950721delTGGC	ENST00000302909.3	+	2	592_595	c.467_470delTGGC	c.(466-471)acfs	p.MA156fs		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	156					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACGTGTCCATGGCCAACATGGTG	0.637													12	101	---	---	---	---					-	26950721	TGGC	-	26950718	7	5	354	1	0	1	0	1	0	0	0	0	8120	1464	51	0	473	0	KCNK3	2	26950718	Frame_Shift_Del	DEL	TGGC	TCGA-CV-A6JZ-01A-11D-A31L-08	5718916	26950718	216248655	16	66568											
VPS54	51542	broad.mit.edu	37	chr2	64208797	64208797	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctgagagatttcctgttGatatactgtaaaatgttcct	11	16	7	7	0	0	3	0	2	0	1	2	4	2	3	3	0	2	3	3	0	5	7			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:64208797G>A	ENST00000272322.4	-	3	515	c.361C>T	c.(361-363)Caa>Taa	p.Q121*	VPS54_ENST00000409558.3_Nonsense_Mutation_p.Q109*	NM_016516.2	NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	121					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						ATTTCCTGTTGATATACTGTA	0.348													4	98					0	0	0	0	A	64208797	G	A	64208797	4	1	354	1	0	0	0	0	0	1	0	0	17312	1299	45	2	2656	2	VPS54	2	64208797	Nonsense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	37258079	64208797	178990576	17	66569											
ALMS1	7840	broad.mit.edu	37	chr2	73717929	73717929	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgagagaaaaccattctcCccttcctcaaggtcaggatt	13	10	7	11	0	3	2	2	1	1	1	5	4	4	3	4	2	1	0	4	2	4	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:73717929C>A	ENST00000264448.6	+	10	8951	c.8840C>A	c.(8839-8841)cCc>cAc	p.P2947H	ALMS1_ENST00000409009.1_Missense_Mutation_p.P2905H	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2947					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AACCATTCTCCCCTTCCTCAA	0.438													6	200					0.00116845	0.00122088	1	0	A	73717929	C	A	73717929	3	1	354	1	0	0	0	0	1	0	0	0	535	623	22	4	8878	4	ALMS1	2	73717929	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	9509132	73717929	169481444	18	66570											
VAMP5	10791	broad.mit.edu	37	chr2	85818955	85818955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgaagctggccgaactGcagcagcgttcagaccaact	10	7	13	11	2	1	2	1	1	0	1	1	3	1	2	2	2	6	4	2	2	3	1			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:85818955G>A	ENST00000306384.4	+	2	194	c.111G>A	c.(109-111)ctG>ctA	p.L37L		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	37	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system				NS(1)|large_intestine(3)|lung(1)	5						TGGCCGAACTGCAGCAGCGTT	0.577													28	151					0	0	0	0	A	85818955	G	A	85818955	2	1	354	1	0	0	0	0	0	0	0	1	17212	1306	46	4		4	VAMP5	2	85818955	Silent	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	12101026	85818955	157380418	19	66571											
GPR39	2863	broad.mit.edu	37	chr2	133403122	133403122	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcactagagcccaactcAggcgcgaaaccagccaattc	13	5	9	14	2	2	1	2	0	0	1	3	3	2	1	3	1	4	0	3	1	4	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:133403122A>T	ENST00000329321.3	+	2	1774	c.1305A>T	c.(1303-1305)tcA>tcT	p.S435S	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	435						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCCCAACTCAGGCGCGAAAC	0.522													9	78					0	0	0	0	T	133403122	A	T	133403122	2	4	354	1	0	0	0	0	0	0	0	1	6742	175	7	5		5	GPR39	2	133403122	Silent	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	47584167	133403122	109796251	20	66572											
NEB	4703	broad.mit.edu	37	chr2	152425879	152425879	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accattccaagtcagccttgTaaacattctgtgaaaacagg	14	10	7	10	0	2	1	1	1	1	0	3	1	3	1	3	1	3	1	3	1	5	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:152425879T>C	ENST00000397345.3	-	110	17640	c.17438A>G	c.(17437-17439)tAc>tGc	p.Y5813C	NEB_ENST00000172853.10_Missense_Mutation_p.Y4112C|NEB_ENST00000604864.1_Missense_Mutation_p.Y5813C|NEB_ENST00000603639.1_Missense_Mutation_p.Y5813C|NEB_ENST00000427231.2_Missense_Mutation_p.Y5813C|NEB_ENST00000409198.1_Missense_Mutation_p.Y4112C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5832					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCAGCCTTGTAAACATTCTG	0.463													10	54					0	0	0	0	C	152425879	T	C	152425879	3	2	354	1	0	0	0	0	1	0	0	0	10372	1638	57	5	8540	5	NEB	2	152425879	Missense_Mutation	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08	19022757	152425879	90773494	21	66573											
KCNJ3	3760	broad.mit.edu	37	chr2	155711289	155711289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgaagatgaagttctttggGgtcatcgtttttttcctgta	7	18	10	6	1	2	3	1	2	1	1	4	3	3	3	1	2	0	3	1	2	3	6			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:155711289G>T	ENST00000295101.2	+	3	1447	c.970G>T	c.(970-972)Ggt>Tgt	p.G324C	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	324					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGTTCTTTGGGGTCATCGTTT	0.383													14	54					2.32078e-09	2.57339e-09	1	0	T	155711289	G	T	155711289	3	4	354	1	0	0	0	0	1	0	0	0	8105	1232	43	4	980	4	KCNJ3	2	155711289	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	3285410	155711289	87488084	22	66574											
TTN	7273	broad.mit.edu	37	chr2	179666894	179666894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagctcagcagtactagtcGcttgtccagatccattggtg	9	11	11	10	1	1	1	1	0	0	1	4	2	3	1	2	1	3	4	2	1	3	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr2:179666894G>A	ENST00000589042.1	-	3	490	c.266C>T	c.(265-267)gCg>gTg	p.A89V	TTN_ENST00000360870.5_Missense_Mutation_p.A89V|TTN_ENST00000591111.1_Missense_Mutation_p.A89V|TTN_ENST00000342175.6_Missense_Mutation_p.A89V|TTN_ENST00000359218.5_Missense_Mutation_p.A89V|TTN_ENST00000460472.2_Missense_Mutation_p.A89V|TTN_ENST00000342992.6_Missense_Mutation_p.A89V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	89	Ig-like 1.						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)			AGTACTAGTCGCTTGTCCAGA	0.547													22	122					0	0	0	0	A	179666894	G	A	179666894	3	1	354	1	0	0	0	0	1	0	0	0	16831	1087	38	1	111162	1	TTN	2	179666894	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	23955605	179666894	63532479	23	66575											
GOLGA4	2803	broad.mit.edu	37	chr3	37367906	37367906	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgacaagagcaagatggAgaaaaaggagtctaatttag	19	6	12	4	1	1	4	0	0	1	4	1	7	1	5	0	2	1	1	0	2	6	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:37367906A>G	ENST00000361924.2	+	14	4903	c.4529A>G	c.(4528-4530)gAg>gGg	p.E1510G	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1532G	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1510	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCAAGATGGAGAAAAAGGAG	0.338													11	53					0	0	0	0	G	37367906	A	G	37367906	3	3	354	1	0	0	0	0	1	0	0	0	6606	304	11	5	4653	5	GOLGA4	3	37367906	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08		37367906	160654524	24	66576											
PBRM1	55193	broad.mit.edu	37	chr3	52597473	52597473	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactggatcttcttttccagCaaaggtgatggctccttctg	8	14	9	10	0	3	1	0	1	3	0	5	2	5	2	2	3	2	2	2	3	2	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:52597473C>A	ENST00000356770.4	-	23	3818	c.3816G>T	c.(3814-3816)ttG>ttT	p.L1272F	PBRM1_ENST00000409114.3_Missense_Mutation_p.L1319F|PBRM1_ENST00000409057.1_Missense_Mutation_p.L1304F|PBRM1_ENST00000394830.3_Missense_Mutation_p.L1279F|PBRM1_ENST00000337303.4_Missense_Mutation_p.L1304F|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Missense_Mutation_p.L1279F|PBRM1_ENST00000409767.1_Missense_Mutation_p.L1319F|PBRM1_ENST00000296302.7_Missense_Mutation_p.L1304F			Q86U86	PB1_HUMAN	polybromo 1	1304	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTTTTCCAGCAAAGGTGATG	0.408			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								3	51					1	1	1	0	A	52597473	C	A	52597473	3	1	354	1	0	0	0	0	1	0	0	0	11562	709	25	4	1016	4	PBRM1	3	52597473	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	15229567	52597473	145424957	25	66577											
KALRN	8997	broad.mit.edu	37	chr3	124117545	124117545	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctccccactctgccacaggGactcggctgtgtccaacaac	8	8	8	17	1	2	0	0	0	2	0	5	1	3	1	4	2	3	1	4	2	2	0			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:124117545G>A	ENST00000360013.3	+	13	2294	c.2165_splice	c.e13-1	p.D723_splice	KALRN_ENST00000460856.1_Splice_Site_p.D723_splice|KALRN_ENST00000240874.3_Splice_Site_p.D723_splice	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	723					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGCCACAGGGACTCGGCTGT	0.552													177	193					0	0	0	0	A	124117545	G	A	124117545	5	1	354	1	0	0	0	0	0	0	1	0	8028	1188	41	2	2217	2	KALRN	3	124117545	Splice_Site	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	71520072	124117545	73904885	26	66578											
ACTL6A	86	broad.mit.edu	37	chr3	179298935	179298935	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgttgtaggggttatCaggaaacacaatgttaggag	11	14	12	4	0	2	0	1	0	1	0	2	2	2	2	0	4	1	4	0	4	5	6			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:179298935C>A	ENST00000429709.2	+	11	1166	c.953C>A	c.(952-954)tCa>tAa	p.S318*	ACTL6A_ENST00000450518.2_Nonsense_Mutation_p.S276*|ACTL6A_ENST00000392662.1_Nonsense_Mutation_p.S276*	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	318					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TAGGGGTTATCAGGAAACACA	0.393													20	165					3.62473e-10	4.04679e-10	1	0	A	179298935	C	A	179298935	4	1	354	1	0	0	0	0	0	1	0	0	198	838	29	2	995	2	ACTL6A	3	179298935	Nonsense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	55181390	179298935	18723495	27	66579											
YEATS2	55689	broad.mit.edu	37	chr3	183470001	183470001	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcttcttcaccaataaaGcagtcacatgagccagtacc	15	8	6	12	0	3	1	2	1	1	0	3	1	3	1	3	0	4	3	3	0	5	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:183470001G>A	ENST00000305135.5	+	10	1305	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	370					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CACCAATAAAGCAGTCACATG	0.483													22	191					0	0	0	0	A	183470001	G	A	183470001	2	1	354	1	0	0	0	0	0	0	0	1	17568	962	34	4		4	YEATS2	3	183470001	Silent	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	4171066	183470001	14552429	28	66580											
WDR53	348793	broad.mit.edu	37	chr3	196281517	196281517	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttaccatcttctgcaccAcaactaaaaatattaccaca	16	10	1	14	0	2	0	0	0	2	0	2	0	2	0	4	0	4	1	4	0	7	5			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr3:196281517A>G	ENST00000332629.5	-	4	1209	c.642T>C	c.(640-642)tgT>tgC	p.C214C	WDR53_ENST00000433160.1_Silent_p.C55C|WDR53_ENST00000429115.1_Silent_p.C53C	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	214										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CTTCTGCACCACAACTAAAAA	0.478													294	284					0	0	0	0	G	196281517	A	G	196281517	2	3	354	1	0	0	0	0	0	0	0	1	17401	157	6	5		5	WDR53	3	196281517	Silent	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	12811516	196281517	1740913	29	66581											
NOP14	8602	broad.mit.edu	37	chr4	2958424	2958424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttcctcgatcctcagcatCgctgtcactgtccacaatgt	7	12	7	15	3	2	0	2	0	0	0	7	1	5	0	3	0	1	3	3	0	1	1	rs149998901		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:2958424C>T	ENST00000416614.2	-	3	510	c.445G>A	c.(445-447)Gat>Aat	p.D149N	NOP14_ENST00000398071.4_Missense_Mutation_p.D149N|NOP14_ENST00000502735.1_Missense_Mutation_p.D149N|NOP14_ENST00000314262.6_Missense_Mutation_p.D149N|NOP14-AS1_ENST00000503709.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	149					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCCTCAGCATCGCTGTCACTG	0.488													18	85					0	0	0	0	T	2958424	C	T	2958424	3	4	354	1	0	0	0	0	1	0	0	0	10606	884	31	1	2192	1	NOP14	4	2958424	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08		2958424	188195852	30	66582											
ATP8A1	10396	broad.mit.edu	37	chr4	42590348	42590348	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatggcttggggctcacTgtagtttggagttgagaagc	8	11	15	7	0	1	1	1	1	0	1	1	3	1	2	0	4	1	6	0	4	2	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:42590348T>G	ENST00000381668.5	-	8	756		c.e8-2		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGGGGCTCACTGTAGTTTGGA	0.358													7	60					0	0	0	0	G	42590348	T	G	42590348	5	3	354	1	0	0	0	0	0	0	1	0	1196	1594	55	5	3091	5	ATP8A1	4	42590348	Splice_Site	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08	39631924	42590348	148563928	31	66583											
NPFFR2	10886	broad.mit.edu	37	chr4	72897718	72897718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggagggagcgcagagcaCtcagcgtccagcagcgcggc	8	2	18	13	5	1	1	1	0	0	1	2	3	2	3	1	4	5	3	1	4	0	0			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:72897718C>T	ENST00000308744.6	+	1	198	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	NPFFR2_ENST00000344413.5_Missense_Mutation_p.L34F	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	34					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)			GCGCAGAGCACTCAGCGTCCA	0.667													10	70					0	0	0	0	T	72897718	C	T	72897718	3	4	354	1	0	0	0	0	1	0	0	0	10648	565	20	4	102	4	NPFFR2	4	72897718	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	30307370	72897718	118256558	32	66584											
TNIP3	79931	broad.mit.edu	37	chr4	122063059	122063059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccgcagttacagggtGggcaatacatctgaggagaa	13	6	13	9	1	1	2	0	1	1	1	1	3	1	2	2	3	3	3	2	3	5	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:122063059G>A	ENST00000454328.1	-	11	1024	c.797C>T	c.(796-798)cCa>cTa	p.P266L	TNIP3_ENST00000057513.3_Missense_Mutation_p.P266L|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000509841.1_Missense_Mutation_p.P343L|TNIP3_ENST00000507879.1_Missense_Mutation_p.P336L			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	266										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTTACAGGGTGGGCAATACAT	0.498													3	35					0	0	0	0	A	122063059	G	A	122063059	3	1	354	1	0	0	0	0	1	0	0	0	16410	1348	47	4	192	4	TNIP3	4	122063059	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	49165341	122063059	69091217	33	66585											
NR3C2	4306	broad.mit.edu	37	chr4	149357812	149357812	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcaagggagtagttcttgTttttctttgctgcttccttg	5	18	11	7	0	2	0	0	0	2	0	3	1	3	1	1	2	2	6	1	2	2	8			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:149357812T>C	ENST00000355292.3	-	2	563	c.201A>G	c.(199-201)aaA>aaG	p.K67K	NR3C2_ENST00000512865.1_Silent_p.K67K|NR3C2_ENST00000358102.3_Silent_p.K67K|NR3C2_ENST00000344721.4_Silent_p.K67K|NR3C2_ENST00000342437.4_Silent_p.K67K|NR3C2_ENST00000511528.1_Silent_p.K67K			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	67	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GTAGTTCTTGTTTTTCTTTGC	0.418													25	69					0	0	0	0	C	149357812	T	C	149357812	2	2	354	1	0	0	0	0	0	0	0	1	10702	1722	60	5		5	NR3C2	4	149357812	Silent	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08	27294753	149357812	41796464	34	66586											
FAT1	2195	broad.mit.edu	37	chr4	187542734	187542734	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcaacagaatattcttttGatgtaaacttcggagaggcg	12	13	10	6	2	2	3	1	1	1	2	3	4	2	3	0	2	2	2	0	2	5	7			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr4:187542734G>C	ENST00000441802.2	-	10	5215	c.5006C>G	c.(5005-5007)tCa>tGa	p.S1669*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1669	Cadherin 15.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATATTCTTTTGATGTAAACTT	0.398										HNSCC(5;0.00058)			7	24					0	0	0	0	C	187542734	G	C	187542734	4	2	354	1	0	0	0	0	0	1	0	0	5734	1294	45	2	8832	2	FAT1	4	187542734	Nonsense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	38184922	187542734	3611542	35	66587											
HMGCS1	3157	broad.mit.edu	37	chr5	43299025	43299025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaacaattcccacatcttTtggccagcaagcttctgcat	10	11	7	13	0	2	0	0	0	2	0	3	0	3	0	2	2	4	4	2	2	3	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:43299025T>C	ENST00000325110.6	-	3	249	c.43A>G	c.(43-45)Aaa>Gaa	p.K15E	HMGCS1_ENST00000433297.2_Missense_Mutation_p.K15E	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	15					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CCCACATCTTTTGGCCAGCAA	0.378													19	68					0	0	0	0	C	43299025	T	C	43299025	3	2	354	1	0	0	0	0	1	0	0	0	7282	1850	64	5	1555	5	HMGCS1	5	43299025	Missense_Mutation	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08		43299025	137616235	36	66588											
YTHDC2	64848	broad.mit.edu	37	chr5	112878079	112878079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtagactgaaaaagatgtGaattgccttgaaccatggtt	13	13	10	5	0	0	5	0	3	0	2	0	5	0	5	2	1	2	2	2	1	5	5			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:112878079G>A	ENST00000161863.4	+	10	1587	c.1374G>A	c.(1372-1374)gtG>gtA	p.V458V	YTHDC2_ENST00000515883.1_Silent_p.V458V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	458							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AAAAAGATGTGAATTGCCTTG	0.338													39	69					0	0	0	0	A	112878079	G	A	112878079	2	1	354	1	0	0	0	0	0	0	0	1	17593	1277	45	2		2	YTHDC2	5	112878079	Silent	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	69579054	112878079	68037181	37	66589											
PCDHB3	56132	broad.mit.edu	37	chr5	140480521	140480521	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggaccgggaggagctatgCggccccacagaaccatgcat	10	6	13	12	2	0	1	0	0	0	1	0	4	0	4	4	4	4	2	4	4	2	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:140480521C>T	ENST00000231130.2	+	1	288	c.288C>T	c.(286-288)tgC>tgT	p.C96C	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		96	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.C96C(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCTATGCGGCCCCACAG	0.448													4	200					0	0	0	0	T	140480521	C	T	140480521	2	4	354	1	0	0	0	0	0	0	0	1	11614	776	27	1		1	PCDHB3	5	140480521	Silent	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	27602442	140480521	40434739	38	66590											
SLC25A2	83884	broad.mit.edu	37	chr5	140683196	140683196	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtagcacatgaagaggacCgagttttcggcgacgtaggc	10	7	14	10	5	0	2	0	1	0	1	1	5	0	3	2	3	1	4	2	3	3	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:140683196C>T	ENST00000239451.4	-	1	416	c.237G>A	c.(235-237)tcG>tcA	p.S79S		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	79					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TGAAGAGGACCGAGTTTTCGG	0.592													44	65					0	0	0	0	T	140683196	C	T	140683196	2	4	354	1	0	0	0	0	0	0	0	1	14570	639	23	1		1	SLC25A2	5	140683196	Silent	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	202675	140683196	40232064	39	66591											
TCERG1	10915	broad.mit.edu	37	chr5	145883031	145883031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagtagaaagtgatccaCgttacaaagcagtagatagt	18	8	9	6	1	0	3	0	1	0	2	1	3	1	3	1	0	2	4	1	0	7	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:145883031C>T	ENST00000296702.5	+	17	2514	c.2476C>T	c.(2476-2478)Cgt>Tgt	p.R826C	TCERG1_ENST00000394421.2_Missense_Mutation_p.R805C|TCERG1_ENST00000509787.1_3'UTR	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	826	FF 3.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGTGATCCACGTTACAAAGC	0.338													7	20					0	0	0	0	T	145883031	C	T	145883031	3	4	354	1	0	0	0	0	1	0	0	0	15779	536	19	1	2542	1	TCERG1	5	145883031	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	5199835	145883031	35032229	40	66592											
CLK4	57396	broad.mit.edu	37	chr5	178030700	178030700	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttggatcatattctaacAttcttcgaaccaggtcaaac	13	12	7	9	1	4	0	2	0	2	0	5	3	4	1	1	2	3	1	1	2	4	6			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr5:178030700A>T	ENST00000316308.4	-	13	1532	c.1364T>A	c.(1363-1365)aTg>aAg	p.M455K		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	455	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		ATATTCTAACATTCTTCGAAC	0.323													7	28					0	0	0	0	T	178030700	A	T	178030700	3	4	354	1	0	0	0	0	1	0	0	0	3569	217	8	5	85	5	CLK4	5	178030700	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	32147669	178030700	2884560	41	66593											
OR2J2	26707	broad.mit.edu	37	chr6	29141532	29141532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttctacctgatgacactGacaggaaacctgttcatcat	12	12	6	11	0	4	3	2	3	2	0	4	4	4	4	2	1	2	1	2	1	2	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:29141532G>A	ENST00000377167.2	+	1	222	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGATGACACTGACAGGAAACC	0.423													29	144					0	0	0	0	A	29141532	G	A	29141532	2	1	354	1	0	0	0	0	0	0	0	1	11074	1277	45	2		2	OR2J2	6	29141532	Silent	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08		29141532	141973535	42	66594											
PHF3	23469	broad.mit.edu	37	chr6	64408457	64408457	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaatataagaacaaatatAgaagtttgatgtttaatttg	18	15	6	2	0	0	3	0	1	0	2	0	3	0	3	0	0	1	2	0	0	10	9			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:64408457A>T	ENST00000262043.3	+	8	3284	c.2944A>T	c.(2944-2946)Aga>Tga	p.R982*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.R982*			Q92576	PHF3_HUMAN	PHD finger protein 3	982	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAACAAATATAGAAGTTTGAT	0.333													13	50					0	0	0	0	T	64408457	A	T	64408457	4	4	354	1	0	0	0	0	0	1	0	0	11908	412	15	5	2970	5	PHF3	6	64408457	Nonsense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	35266925	64408457	106706610	43	66595											
SENP6	26054	broad.mit.edu	37	chr6	76372993	76372993	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgagtctactggaccattAttaagaacgtcaattcatca	15	12	6	8	1	4	2	3	1	1	1	4	3	4	3	1	1	2	0	1	1	6	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:76372993A>G	ENST00000370014.3	+	9	1372	c.753A>G	c.(751-753)ttA>ttG	p.L251L	SENP6_ENST00000327284.8_Silent_p.L244L|SENP6_ENST00000447266.2_Silent_p.L251L|SENP6_ENST00000370010.2_Silent_p.L244L	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	251					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CTGGACCATTATTAAGAACGT	0.358													20	55					0	0	0	0	G	76372993	A	G	76372993	2	3	354	1	0	0	0	0	0	0	0	1	14137	446	16	5		5	SENP6	6	76372993	Silent	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	11964536	76372993	94742074	44	66596											
DOPEY1	23033	broad.mit.edu	37	chr6	83847865	83847872	+	Frame_Shift_Del	DEL	TGTGCTCC	TGTGCTCC	-																															attcatcctctctatcaacaTgtgctcctgtatctccagtt																										TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:83847865_83847872delTGTGCTCC	ENST00000349129.2	+	21	4364_4371	c.4104_4111delTGTGCTCC	c.(4102-4113)catgfs	p.HVLL1368fs	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.HVLL1349fs|DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.HVLL1359fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1368					protein transport			p.L1370L(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTATCAACATGTGCTCCTGTATCTCCA	0.409													8	137	---	---	---	---					-	83847872	TGTGCTCC	-	83847865	7	5	354	1	0	1	0	1	0	0	0	0	4743	1461	51	0	4178	0	DOPEY1	6	83847865	Frame_Shift_Del	DEL	TGTGCTCC	TCGA-CV-A6JZ-01A-11D-A31L-08	7474872	83847865	87267202	45	66597											
DCBLD1	285761	broad.mit.edu	37	chr6	117861858	117861858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggtaactctaactttcggGacccagtgcaaaacaatttc	13	10	8	10	1	1	0	0	0	1	0	3	1	1	1	1	2	4	2	1	2	5	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:117861858G>A	ENST00000338728.5	+	10	1249	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.D377N|DCBLD1_ENST00000534777.1_3'UTR			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	377	F5/8 type C.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TAACTTTCGGGACCCAGTGCA	0.443													25	110					0	0	0	0	A	117861858	G	A	117861858	3	1	354	1	0	0	0	0	1	0	0	0	4312	1174	41	2	1167	2	DCBLD1	6	117861858	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	34013993	117861858	53253209	46	66598											
ECT2L	345930	broad.mit.edu	37	chr6	139222223	139222223	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcatcagtggcccttcaTcggttactcatagaaaatat	12	13	7	9	1	3	1	3	0	0	1	4	1	3	1	1	2	2	2	1	2	5	5			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr6:139222223T>A	ENST00000423192.1	+	20	2714	c.2553T>A	c.(2551-2553)caT>caA	p.H851Q	ECT2L_ENST00000367682.2_Missense_Mutation_p.H851Q|ECT2L_ENST00000541398.1_Missense_Mutation_p.H705Q			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	851					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGGCCCTTCATCGGTTACTCA	0.398			"N, Splice, Mis"		ETP ALL								16	86					0	0	0	0	A	139222223	T	A	139222223	3	1	354	1	0	0	0	0	1	0	0	0	4938	1432	50	5	2627	5	ECT2L	6	139222223	Missense_Mutation	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08	21360365	139222223	31892844	47	66599											
ZNF804B	219578	broad.mit.edu	37	chr7	88965122	88965122	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatgtcaagaacaatcaagTaatgttgagatctcttcaaa	18	11	6	6	0	4	2	3	1	1	2	5	3	4	2	0	0	1	2	0	0	7	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:88965122T>A	ENST00000333190.4	+	4	3435	c.2826T>A	c.(2824-2826)agT>agA	p.S942R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	942						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AACAATCAAGTAATGTTGAGA	0.408										HNSCC(36;0.09)			34	109					0	0	0	0	A	88965122	T	A	88965122	3	1	354	1	0	0	0	0	1	0	0	0	18264	1635	57	5	2840	5	ZNF804B	7	88965122	Missense_Mutation	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08		88965122	70173541	48	66600											
COL1A2	1278	broad.mit.edu	37	chr7	94057098	94057098	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctactctgaagtctctcAacaaccagattgagaccctt	12	11	6	12	0	3	3	1	2	2	2	4	4	3	3	2	0	4	1	2	0	4	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:94057098A>C	ENST00000297268.6	+	49	3898	c.3427A>C	c.(3427-3429)Aac>Cac	p.N1143H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1143	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GAAGTCTCTCAACAACCAGAT	0.522										HNSCC(75;0.22)			17	46					0	0	0	0	C	94057098	A	C	94057098	3	2	354	1	0	0	0	0	1	0	0	0	3708	130	5	5	3621	5	COL1A2	7	94057098	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	5091976	94057098	65081565	49	66601											
CAV1	857	broad.mit.edu	37	chr7	116166689	116166689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacgacgcgcacaccaaGgagatcgacctggtcaaccg	11	5	12	13	5	1	1	1	0	0	1	2	4	1	1	3	2	2	2	3	2	3	1			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:116166689G>A	ENST00000341049.2	+	2	419	c.141G>A	c.(139-141)aaG>aaA	p.K47K	CAV1_ENST00000393470.1_Silent_p.K36K|CAV1_ENST00000393468.1_Silent_p.K16K|CAV1_ENST00000405348.1_Silent_p.K16K|CAV1_ENST00000393467.1_Silent_p.K16K	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa	47					blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			CGCACACCAAGGAGATCGACC	0.577											OREG0018273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	72					0	0	0	0	A	116166689	G	A	116166689	2	1	354	1	0	0	0	0	0	0	0	1	2718	991	35	4		4	CAV1	7	116166689	Silent	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	22109591	116166689	42971974	50	66602											
GRM8	2918	broad.mit.edu	37	chr7	126544619	126544619	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctgatgtcatcctcattGgcaaacataatcactgctcg	11	11	6	13	1	3	1	3	1	0	0	5	1	4	1	2	1	2	2	2	1	2	2	rs142836470		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:126544619G>A	ENST00000339582.2	-	4	1654	c.846C>T	c.(844-846)gcC>gcT	p.A282A	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.A282A|GRM8_ENST00000444921.2_Silent_p.A282A|GRM8_ENST00000405249.1_Silent_p.A282A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	282					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CATCCTCATTGGCAAACATAA	0.383										HNSCC(24;0.065)			8	59					0	0	0	0	A	126544619	G	A	126544619	2	1	354	1	0	0	0	0	0	0	0	1	6853	1335	47	4		4	GRM8	7	126544619	Silent	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	10377930	126544619	32594044	51	66603											
GRM8	2918	broad.mit.edu	37	chr7	126544682	126544682	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtttgataattttttcaaaTtctccaggtcttggttcacg	8	18	7	8	2	4	1	2	1	2	0	5	1	4	1	1	2	0	2	1	2	2	8			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:126544682T>C	ENST00000339582.2	-	4	1591	c.783A>G	c.(781-783)gaA>gaG	p.E261E	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.E261E|GRM8_ENST00000444921.2_Silent_p.E261E|GRM8_ENST00000405249.1_Silent_p.E261E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	261					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTTTTTCAAATTCTCCAGGTC	0.398										HNSCC(24;0.065)			13	57					0	0	0	0	C	126544682	T	C	126544682	2	2	354	1	0	0	0	0	0	0	0	1	6853	1490	52	5		5	GRM8	7	126544682	Silent	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08	63	126544682	32593981	52	66604											
TRIM24	8805	broad.mit.edu	37	chr7	138269520	138269521	+	Frame_Shift_Ins	INS	-	-	T																															agccaatgctggtataaaacINSttgaaaattattttgaagaa																										TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:138269520_138269521insT	ENST00000343526.4	+	19	3192_3193	c.2977_2978insT	c.(2977-2979)tgafs	p.*993fs	TRIM24_ENST00000415680.2_Frame_Shift_Ins_p.*959fs			O15164	TIF1A_HUMAN	tripartite motif containing 24	993					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGGTATAAAACTTGAAAATTAT	0.297													7	41	---	---	---	---					T	138269521	-	T	138269520	7	5	354	1	0	1	1	0	0	0	0	0	16593	565	20	0	3051	0	TRIM24	7	138269520	Frame_Shift_Ins	INS	-	TCGA-CV-A6JZ-01A-11D-A31L-08	11724838	138269520	20869143	53	66605											
MGAM	8972	broad.mit.edu	37	chr7	141750510	141750510	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagaaccgcttggaggTgaatatttcacaatcaacct	12	12	8	9	1	2	2	2	1	0	1	2	3	2	3	2	2	3	2	2	2	5	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr7:141750510T>A	ENST00000475668.2	+	24	2705	c.2651T>A	c.(2650-2652)gTg>gAg	p.V884E	MGAM_ENST00000549489.2_Missense_Mutation_p.V884E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	884	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGCTTGGAGGTGAATATTTCA	0.378													5	20					0	0	0	0	A	141750510	T	A	141750510	3	1	354	1	0	0	0	0	1	0	0	0	9610	1696	59	5	2741	5	MGAM	7	141750510	Missense_Mutation	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08	3480990	141750510	17388153	54	66606											
MYOM2	9172	broad.mit.edu	37	chr8	2026915	2026915	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaaggaaggtcttacataTtccgagtgagggcagtgaac	12	10	13	6	1	1	3	0	3	1	0	2	5	2	4	1	3	2	1	1	3	5	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:2026915T>C	ENST00000262113.4	+	12	1504	c.1363T>C	c.(1363-1365)Ttc>Ctc	p.F455L	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	455	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTCTTACATATTCCGAGTGAG	0.522													46	176					0	0	0	0	C	2026915	T	C	2026915	3	2	354	1	0	0	0	0	1	0	0	0	10162	1493	52	5	1405	5	MYOM2	8	2026915	Missense_Mutation	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08		2026915	144337107	55	66607											
CSMD1	64478	broad.mit.edu	37	chr8	2976018	2976018	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtacccaggataacactcGaaagatactgattgccccac	14	8	7	12	1	0	2	0	1	0	1	1	4	0	3	3	1	4	1	3	1	4	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:2976018G>A	ENST00000602557.1	-	43	6891	c.6336C>T	c.(6334-6336)ttC>ttT	p.F2112F	CSMD1_ENST00000537824.1_Silent_p.F2111F|CSMD1_ENST00000602723.1_Silent_p.F2112F|CSMD1_ENST00000520002.1_Silent_p.F2112F|CSMD1_ENST00000400186.3_Silent_p.F2112F|CSMD1_ENST00000542608.1_Silent_p.F2111F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2112	Sushi 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GATAACACTCGAAAGATACTG	0.448													11	54					0	0	0	0	A	2976018	G	A	2976018	2	1	354	1	0	0	0	0	0	0	0	1	3976	1049	37	1		1	CSMD1	8	2976018	Silent	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	949103	2976018	143388004	56	66608											
DLC1	10395	broad.mit.edu	37	chr8	13357289	13357289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctggcttccagagaaaGaaactgatcttcaccttcat	11	12	8	10	0	3	3	2	1	1	2	4	4	4	3	2	1	2	2	2	1	2	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:13357289G>T	ENST00000276297.4	-	2	701	c.292C>A	c.(292-294)Ctt>Att	p.L98I	DLC1_ENST00000316609.5_Missense_Mutation_p.L98I|DLC1_ENST00000511869.1_Missense_Mutation_p.L98I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	98					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCCAGAGAAAGAAACTGATCT	0.423													44	144					1.62263e-30	1.93057e-30	1	0	T	13357289	G	T	13357289	3	4	354	1	0	0	0	0	1	0	0	0	4587	942	33	2	4447	2	DLC1	8	13357289	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	10381271	13357289	133006733	57	66609											
RP1	6101	broad.mit.edu	37	chr8	55539430	55539430	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagataagtcttttattgcCaatgacactggtgaagaaga	14	11	11	5	0	1	5	0	2	1	3	1	6	1	5	1	2	1	0	1	2	5	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:55539430C>T	ENST00000220676.1	+	4	3136	c.2988C>T	c.(2986-2988)gcC>gcT	p.A996A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	996					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTTTTATTGCCAATGACACTG	0.373													50	142					0	0	0	0	T	55539430	C	T	55539430	2	4	354	1	0	0	0	0	0	0	0	1	13617	581	21	4		4	RP1	8	55539430	Silent	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	42182141	55539430	90824592	58	66610											
PRDM14	63978	broad.mit.edu	37	chr8	70967548	70967548	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttaccttagtacaatacAcacactggtatggtctgtct	11	14	6	10	0	2	0	0	0	2	0	2	0	2	0	1	2	3	2	1	2	6	6			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:70967548A>G	ENST00000276594.2	-	7	1676	c.1475T>C	c.(1474-1476)gTg>gCg	p.V492A		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGTACAATACACACACTGGTA	0.423													7	44					0	0	0	0	G	70967548	A	G	70967548	3	3	354	1	0	0	0	0	1	0	0	0	12535	159	6	5	248	5	PRDM14	8	70967548	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	15428118	70967548	75396474	59	66611											
ADCY8	114	broad.mit.edu	37	chr8	131880092	131880092	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attagttcttttacatttacCttgaagaaggaagcaaactt	14	15	6	6	0	1	2	0	1	1	1	1	3	1	3	1	1	4	2	1	1	7	8			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr8:131880092C>A	ENST00000286355.5	-	9	4302	c.2210_splice	c.e9+1	p.R737_splice	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	737					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTACATTTACCTTGAAGAAGG	0.343										HNSCC(32;0.087)			19	43					2.4624e-09	2.71196e-09	1	0	A	131880092	C	A	131880092	5	1	354	1	0	0	0	0	0	0	1	0	300	695	24	4	1585	4	ADCY8	8	131880092	Splice_Site	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	60912544	131880092	14483930	60	66612											
GLIS3	169792	broad.mit.edu	37	chr9	3937152	3937152	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccgcaagtggatcttgagaTtttcaagccttgaaaaggcc	11	11	10	9	1	2	2	1	2	1	1	3	4	3	3	3	2	1	1	3	2	4	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:3937152T>A	ENST00000324333.10	-	4	1476	c.1283A>T	c.(1282-1284)aAt>aTt	p.N428I	GLIS3_ENST00000381971.3_Missense_Mutation_p.N583I|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	428					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GATCTTGAGATTTTCAAGCCT	0.488													12	164					0	0	0	0	A	3937152	T	A	3937152	3	1	354	1	0	0	0	0	1	0	0	0	6498	1493	52	5	1072	5	GLIS3	9	3937152	Missense_Mutation	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08		3937152	137276279	61	66613											
TOMM5	401505	broad.mit.edu	37	chr9	37592529	37592529	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccctcaatccggaacaTcgcggctctgacttagcagc	9	7	11	14	3	2	1	1	1	1	0	4	3	3	2	2	3	3	2	2	3	3	1			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:37592529T>A	ENST00000377773.5	-	1	65	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	TOMM5_ENST00000401811.3_Start_Codon_SNP_p.M1L|RP11-613M10.9_ENST00000540557.1_Intron|TOMM5_ENST00000544379.1_Start_Codon_SNP_p.M1L|TOMM5_ENST00000321301.6_Start_Codon_SNP_p.M1L	NM_001134484.1|NM_001134485.1	NP_001127956.1|NP_001127957.1	Q8N4H5	TOM5_HUMAN	translocase of outer mitochondrial membrane 5 homolog (yeast)	1						integral to membrane|mitochondrial outer membrane translocase complex											ATCCGGAACATCGCGGCTCTG	0.627													52	56					0	0	0	0	A	37592529	T	A	37592529	1	1	354	1	0	0	0	0	0	0	0	0	16454	1435	50	5		5	TOMM5	9	37592529	Translation_Start_Site	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08	33655377	37592529	103620902	62	66614											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899173	112899173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagatgctggagctggAaaaggagaggagagagctca	15	4	18	4	0	1	4	1	0	0	4	1	10	1	7	0	5	3	3	0	5	2	0			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:112899173A>G	ENST00000374530.3	+	8	1529	c.1349A>G	c.(1348-1350)gAa>gGa	p.E450G	AKAP2_ENST00000555236.1_Missense_Mutation_p.E450G|AKAP2_ENST00000259318.7_Missense_Mutation_p.E219G|AKAP2_ENST00000374525.1_Missense_Mutation_p.E308G|AKAP2_ENST00000510514.5_Missense_Mutation_p.E450G|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E450G|AKAP2_ENST00000434623.2_Missense_Mutation_p.E308G	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		219							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTGGAGCTGGAAAAGGAGAGG	0.512													20	47					0	0	0	0	G	112899173	A	G	112899173	3	3	354	1	0	0	0	0	1	0	0	0	11481	246	9	5	1379	5	PALM2-AKAP2	9	112899173	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	75306644	112899173	28314258	63	66615											
AMBP	259	broad.mit.edu	37	chr9	116823781	116823781	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcagccgccgtactggAaagtctcacaggccatggat	10	7	11	13	2	1	0	1	0	1	0	2	2	1	2	4	3	3	2	4	3	2	1			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:116823781A>G	ENST00000265132.3	-	8	1038	c.776T>C	c.(775-777)tTc>tCc	p.F259S		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	259	BPTI/Kunitz inhibitor 1.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCCGTACTGGAAAGTCTCACA	0.577													34	75					0	0	0	0	G	116823781	A	G	116823781	3	3	354	1	0	0	0	0	1	0	0	0	564	246	9	5	294	5	AMBP	9	116823781	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	3924608	116823781	24389650	64	66616											
ABL1	25	broad.mit.edu	37	chr9	133750435	133750435	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccatcaagtccgacgtCtggggtaagggctgctgctg	6	11	13	11	2	3	0	1	0	2	0	5	1	4	0	2	3	2	4	2	3	2	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr9:133750435C>A	ENST00000318560.5	+	7	1647	c.1266C>A	c.(1264-1266)gtC>gtA	p.V422V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	422	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|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|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|SH3 domain binding	p.?(1)		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)	AGTCCGACGTCTGGGGTAAGG	0.527			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								9	73					0.000274275	0.000288431	1	0	A	133750435	C	A	133750435	2	1	354	1	0	0	0	0	0	0	0	1	92	900	32	2		2	ABL1	9	133750435	Silent	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	16926654	133750435	7462996	65	66617											
VIM	7431	broad.mit.edu	37	chr10	17278316	17278316	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaatctggattcactccctCtggttgatacccactcaaaa	11	12	5	13	0	4	1	2	1	2	0	5	2	5	2	2	2	1	1	2	2	4	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:17278316C>T	ENST00000544301.1	+	9	1710	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	VIM_ENST00000224237.5_Silent_p.L433L	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	433	Tail.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	p.L433M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCACTCCCTCTGGTTGATAC	0.353													18	139					0	0	0	0	T	17278316	C	T	17278316	2	4	354	1	0	0	0	0	0	0	0	1	17262	912	32	2		2	VIM	10	17278316	Silent	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08		17278316	118256431	66	66618											
BMS1	9790	broad.mit.edu	37	chr10	43293939	43293941	+	In_Frame_Del	DEL	GAT	GAT	-																															cagaagataatgaagaagaaGatgatgatactctagaagag																										TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:43293939_43293941delGAT	ENST00000374518.4	+	12	2176_2178	c.2113_2115delGAT	c.(2113-2115)del	p.D707del		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	707					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGAAGAAGAAGATGATGATACTC	0.433													14	80	---	---	---	---					-	43293941	GAT	-	43293939	7	5	354	1	0	1	0	1	0	0	0	0	1477	942	33	0	2155	0	BMS1	10	43293939	In_Frame_Del	DEL	GAT	TCGA-CV-A6JZ-01A-11D-A31L-08	26015623	43293939	92240808	67	66619											
ARHGAP22	58504	broad.mit.edu	37	chr10	49654477	49654477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgccccaacagtcaagcttCctagggtcgaaaaaaactcc	13	8	7	13	1	1	0	1	0	0	0	4	1	3	0	4	1	4	1	4	1	6	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:49654477C>T	ENST00000249601.4	-	10	2350	c.2054G>A	c.(2053-2055)gGa>gAa	p.G685E	ARHGAP22_ENST00000477708.2_Missense_Mutation_p.G518E|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.G526E|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.G701E|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.G595E|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.G576E|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.G691E	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	685					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGTCAAGCTTCCTAGGGTCGA	0.542													14	87					0	0	0	0	T	49654477	C	T	49654477	3	4	354	1	0	0	0	0	1	0	0	0	874	855	30	2	46	2	ARHGAP22	10	49654477	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	6360538	49654477	85880270	68	66620											
PRKG1	5592	broad.mit.edu	37	chr10	52913073	52913073	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagacgtggggtcacTggtgtatgtcatggaaggta	11	9	17	4	1	2	2	2	0	0	2	2	4	2	3	0	6	0	2	0	6	4	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:52913073T>A	ENST00000373980.4	+	2	878	c.461T>A	c.(460-462)cTg>cAg	p.L154Q	PRKG1_ENST00000401604.2_Missense_Mutation_p.L139Q|PRKG1_ENST00000373985.1_Missense_Mutation_p.L127Q	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	139					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GTGGGGTCACTGGTGTATGTC	0.448													14	54					0	0	0	0	A	52913073	T	A	52913073	3	1	354	1	0	0	0	0	1	0	0	0	12602	1580	55	5	737	5	PRKG1	10	52913073	Missense_Mutation	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08	3258596	52913073	82621674	69	66621											
BICC1	80114	broad.mit.edu	37	chr10	60546833	60546833	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaataaccaagcagaaaaaAgcaaccaggtggtttgtctt	16	8	10	7	0	1	1	0	0	1	1	1	2	1	2	2	3	4	3	2	3	7	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:60546833A>C	ENST00000373886.3	+	5	542	c.538A>C	c.(538-540)Agc>Cgc	p.S180R		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	180	KH 1.				multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGCAGAAAAAAGCAACCAGGT	0.368													16	51					0	0	0	0	C	60546833	A	C	60546833	3	2	354	1	0	0	0	0	1	0	0	0	1432	72	3	5	556	5	BICC1	10	60546833	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	7633760	60546833	74987914	70	66622											
SLC29A3	55315	broad.mit.edu	37	chr10	73122322	73122322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatgtgtgcttgggcttaaCactgggctcagcctgctcta	6	14	11	10	0	2	0	1	0	1	0	2	0	2	0	1	2	4	4	1	2	3	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:73122322C>T	ENST00000373189.5	+	6	1437	c.1385C>T	c.(1384-1386)aCa>aTa	p.T462I		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	462					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TTGGGCTTAACACTGGGCTCA	0.567													4	60					0	0	0	0	T	73122322	C	T	73122322	3	4	354	1	0	0	0	0	1	0	0	0	14624	478	17	4	1411	4	SLC29A3	10	73122322	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	12575489	73122322	62412425	71	66623											
OIT3	170392	broad.mit.edu	37	chr10	74692226	74692226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaggagaggactcagccGgtctacagggccagacgcta	11	4	15	11	2	2	2	1	0	1	2	2	5	2	4	2	5	2	1	2	5	2	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:74692226G>A	ENST00000334011.5	+	9	1800	c.1582G>A	c.(1582-1584)Ggt>Agt	p.G528S		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	528						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GGACTCAGCCGGTCTACAGGG	0.637													22	82					0	0	0	0	A	74692226	G	A	74692226	3	1	354	1	0	0	0	0	1	0	0	0	10920	1116	39	1	1616	1	OIT3	10	74692226	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	1569904	74692226	60842521	72	66624											
MAT1A	4143	broad.mit.edu	37	chr10	82039992	82039992	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcctgaggtctgccatccgGgcgttgagcttgtgagcaag	6	9	15	11	3	1	3	0	3	1	0	2	3	2	3	3	2	3	3	3	2	1	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:82039992G>A	ENST00000372213.3	-	5	746	c.486C>T	c.(484-486)gcC>gcT	p.A162A		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	162					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGCCATCCGGGCGTTGAGCT	0.607													32	106					0	0	0	0	A	82039992	G	A	82039992	2	1	354	1	0	0	0	0	0	0	0	1	9398	1219	43	4		4	MAT1A	10	82039992	Silent	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	7347766	82039992	53494755	73	66625											
CPN1	1369	broad.mit.edu	37	chr10	101816848	101816848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcggggggaaacttgtcGcaactcagttccagcgtgat	8	11	12	10	3	2	1	1	1	1	0	5	2	3	2	1	3	3	2	1	3	2	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr10:101816848G>A	ENST00000370418.3	-	6	1184	c.933C>T	c.(931-933)tgC>tgT	p.C311C		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	311	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GAAACTTGTCGCAACTCAGTT	0.478													8	317					0	0	0	0	A	101816848	G	A	101816848	2	1	354	1	0	0	0	0	0	0	0	1	3839	1079	38	1		1	CPN1	10	101816848	Silent	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	19776856	101816848	33717899	74	66626											
ANO9	338440	broad.mit.edu	37	chr11	419731	419731	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacctgcagccaggtcccTgcaccagagcagtgggcaag	10	4	13	14	0	0	1	0	0	0	1	1	1	1	1	4	2	5	5	4	2	1	0			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:419731T>A	ENST00000332826.6	-	20	1871		c.e20-2			NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9							chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GCCAGGTCCCTGCACCAGAGC	0.642													13	38					0	0	0	0	A	419731	T	A	419731	5	1	354	1	0	0	0	0	0	0	1	0	703	1594	55	5	579	5	ANO9	11	419731	Splice_Site	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08		419731	134586785	75	66627											
OR51I2	390064	broad.mit.edu	37	chr11	5474954	5474954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catatccatggccacactgcCcactgtactccgaaccttct	9	10	5	17	1	1	0	0	0	1	0	3	1	3	0	5	1	3	1	5	1	3	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:5474954C>T	ENST00000341449.2	+	1	317	c.236C>T	c.(235-237)cCc>cTc	p.P79L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79H(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACACTGCCCACTGTACTC	0.502													18	84					0	0	0	0	T	5474954	C	T	5474954	3	4	354	1	0	0	0	0	1	0	0	0	11172	623	22	4	238	4	OR51I2	11	5474954	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	5055223	5474954	129531562	76	66628											
OR2AG2	338755	broad.mit.edu	37	chr11	6790036	6790036	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcatgtggagccgggcttcTatggtgatggccaggagcag	7	8	18	8	1	1	1	0	1	1	0	1	3	1	3	2	6	2	3	2	6	1	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:6790036T>C	ENST00000338569.2	-	1	250	c.153A>G	c.(151-153)atA>atG	p.I51M		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCGGGCTTCTATGGTGATGG	0.532													5	113					0	0	0	0	C	6790036	T	C	6790036	3	2	354	1	0	0	0	0	1	0	0	0	11056	1512	53	5	801	5	OR2AG2	11	6790036	Missense_Mutation	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08	1315082	6790036	128216480	77	66629											
OR2AG2	338755	broad.mit.edu	37	chr11	6790060	6790060	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggccaggagcagcagAccattgctggtcagtgccaa	10	7	14	10	0	1	2	1	1	0	1	1	3	1	3	3	3	4	3	3	3	1	1			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:6790060A>G	ENST00000338569.2	-	1	226	c.129T>C	c.(127-129)ggT>ggC	p.G43G		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGAGCAGCAGACCATTGCTGG	0.527													5	97					0	0	0	0	G	6790060	A	G	6790060	2	3	354	1	0	0	0	0	0	0	0	1	11056	262	10	5		5	OR2AG2	11	6790060	Silent	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	24	6790060	128216456	78	66630											
OR2AG1	144125	broad.mit.edu	37	chr11	6806382	6806382	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaatcctatacttgttggcCctgatcagcaatggcctact	10	12	7	12	0	1	1	1	1	0	0	2	1	2	1	3	2	3	2	3	2	5	5			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:6806382C>A	ENST00000307401.4	+	1	135	c.114C>A	c.(112-114)gcC>gcA	p.A38A		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACTTGTTGGCCCTGATCAGCA	0.527													4	96					1.76689e-08	1.90731e-08	1	0	A	6806382	C	A	6806382	2	1	354	1	0	0	0	0	0	0	0	1	11055	610	22	4		4	OR2AG1	11	6806382	Silent	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	16322	6806382	128200134	79	66631			1	103		2	2	19	N	C_A	7.558657e-05
OR2AG1	144125	broad.mit.edu	37	chr11	6806400	6806400	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctgatcagcaatggcctActgctcctggctatcaccat	8	10	8	15	0	2	1	2	1	0	0	3	1	3	1	4	2	3	3	4	2	3	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:6806400A>G	ENST00000307401.4	+	1	153	c.132A>G	c.(130-132)ctA>ctG	p.L44L		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCAATGGCCTACTGCTCCTGG	0.517													4	105					0	0	0	0	G	6806400	A	G	6806400	2	3	354	1	0	0	0	0	0	0	0	1	11055	378	14	5		5	OR2AG1	11	6806400	Silent	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	18	6806400	128200116	80	66632			1	103		2	2	19	N	C_A	7.558657e-05
OR4P4	81300	broad.mit.edu	37	chr11	55406374	55406374	+	Missense_Mutation	SNP	C	C	A																															actacttctgtgatgtgtatCctttgctgaaattggcctgt																										TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55406374C>A	ENST00000314612.2	+	1	541	c.541C>A	c.(541-543)Cct>Act	p.P181T		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TGATGTGTATCCTTTGCTGAA	0.383													12	14					0.0167234	0.0169311	1	0	A	55406374	C	A	55406374	3	1	354	1	0	0	0	0	1	0	0	0	11151	855	30	2	543	2	OR4P4	11	55406374	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	48599974	55406374	79600142	81	66633	822	2									
OR4P4	81300	broad.mit.edu	37	chr11	55406375	55406375	+	Missense_Mutation	SNP	C	C	A																															ctacttctgtgatgtgtatcCtttgctgaaattggcctgtt																										TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55406375C>A	ENST00000314612.2	+	1	542	c.542C>A	c.(541-543)cCt>cAt	p.P181H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GATGTGTATCCTTTGCTGAAA	0.388													12	14					0.0167234	0.0169311	1	0	A	55406375	C	A	55406375	3	1	354	1	0	0	0	0	1	0	0	0	11151	681	24	4	544	4	OR4P4	11	55406375	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	1	55406375	79600141	82	66634	822	2									
OR5I1	10798	broad.mit.edu	37	chr11	55703423	55703423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaactcatgttgcctccaaGgtatgacaagacaatcaacc	14	8	8	11	0	2	2	2	1	0	1	3	3	3	3	3	2	3	2	3	2	6	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55703423G>A	ENST00000301532.3	-	1	453	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTGCCTCCAAGGTATGACAAG	0.428													9	69					0	0	0	0	A	55703423	G	A	55703423	3	1	354	1	0	0	0	0	1	0	0	0	11235	1000	35	4	493	4	OR5I1	11	55703423	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	297048	55703423	79303093	83	66635											
OR10AG1	282770	broad.mit.edu	37	chr11	55735541	55735541	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagctattatcagctgAatgcagactttgtggttcat	11	13	10	7	0	2	2	2	1	0	1	2	3	2	3	0	2	3	4	0	2	4	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55735541A>G	ENST00000312345.2	-	1	449	c.399T>C	c.(397-399)atT>atC	p.I133I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTATCAGCTGAATGCAGACTT	0.443													9	58					0	0	0	0	G	55735541	A	G	55735541	2	3	354	1	0	0	0	0	0	0	0	1	10968	242	9	5		5	OR10AG1	11	55735541	Silent	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	32118	55735541	79270975	84	66636			2	104	48929141	4	4	338	N	T_A	4.677016e-10
OR10AG1	282770	broad.mit.edu	37	chr11	55735566	55735566	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agactttgtggttcatcactAgaggatactgcaaaggctta	12	12	10	7	0	2	2	2	0	0	2	2	3	2	3	0	3	2	3	0	3	4	5			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55735566A>G	ENST00000312345.2	-	1	424	c.374T>C	c.(373-375)cTa>cCa	p.L125P		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GTTCATCACTAGAGGATACTG	0.443													5	55					0	0	0	0	G	55735566	A	G	55735566	3	3	354	1	0	0	0	0	1	0	0	0	10968	420	15	5	534	5	OR10AG1	11	55735566	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	25	55735566	79270950	85	66637			2	104	48929141	4	4	338	N	T_A	4.677016e-10
OR10AG1	282770	broad.mit.edu	37	chr11	55735735	55735735	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccatgagcattcttgggaTaatgattgttacataacaga	13	13	9	6	0	1	3	0	2	1	1	2	4	2	4	1	1	3	2	1	1	3	6			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55735735T>G	ENST00000312345.2	-	1	255	c.205A>C	c.(205-207)Atc>Ctc	p.I69L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATTCTTGGGATAATGATTGTT	0.353													16	77					0	0	0	0	G	55735735	T	G	55735735	3	3	354	1	0	0	0	0	1	0	0	0	10968	1406	49	5	703	5	OR10AG1	11	55735735	Missense_Mutation	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08	169	55735735	79270781	86	66638			2	104	48929141	4	4	338	N	T_A	4.677016e-10
OR10AG1	282770	broad.mit.edu	37	chr11	55735878	55735878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaatacataagtaaaaatAtactaaaaagcatccagtgg	21	9	5	6	0	1	0	1	0	0	0	2	0	2	0	1	1	3	2	1	1	11	6			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:55735878A>G	ENST00000312345.2	-	1	112	c.62T>C	c.(61-63)aTa>aCa	p.I21T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAGTAAAAATATACTAAAAAG	0.328													10	51					0	0	0	0	G	55735878	A	G	55735878	3	3	354	1	0	0	0	0	1	0	0	0	10968	449	16	5	846	5	OR10AG1	11	55735878	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	143	55735878	79270638	87	66639			2	104	48929141	4	4	338	N	T_A	4.677016e-10
TNKS1BP1	85456	broad.mit.edu	37	chr11	57069412	57069412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggcacccgagatgcccGtggctctgcaaaggcccggg	8	5	15	13	3	1	2	0	0	1	2	1	3	1	2	3	4	2	3	3	4	1	0			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:57069412G>A	ENST00000532437.1	-	8	5151	c.4840C>T	c.(4840-4842)Cgg>Tgg	p.R1614W	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R1614W			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1614	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CGAGATGCCCGTGGCTCTGCA	0.587													13	85					0	0	0	0	A	57069412	G	A	57069412	3	1	354	1	0	0	0	0	1	0	0	0	16414	1144	40	1	361	1	TNKS1BP1	11	57069412	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	1333534	57069412	77937104	88	66640											
MS4A3	932	broad.mit.edu	37	chr11	59828646	59828646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaccccaatggcctcccacGaagttgataatgcagagctg	12	7	9	13	1	0	2	0	1	0	1	1	3	1	2	4	1	3	3	4	1	4	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:59828646G>A	ENST00000278865.3	+	2	86	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	MS4A3_ENST00000358152.2_Missense_Mutation_p.E5K|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000534744.1_Missense_Mutation_p.E5K|MS4A3_ENST00000395032.2_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	5						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GGCCTCCCACGAAGTTGATAA	0.483													17	83					0	0	0	0	A	59828646	G	A	59828646	3	1	354	1	0	0	0	0	1	0	0	0	9931	1059	37	1	15	1	MS4A3	11	59828646	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	2759234	59828646	75177870	89	66641											
MS4A6A	64231	broad.mit.edu	37	chr11	59939680	59939680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcatgagtcatttttgagGacatgccagaattaccaatg	13	12	9	7	0	2	3	2	2	0	1	2	4	2	4	2	1	2	0	2	1	3	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:59939680G>T	ENST00000323961.3	-	7	935	c.698C>A	c.(697-699)tCc>tAc	p.S233Y	MS4A6A_ENST00000420732.2_3'UTR|MS4A6A_ENST00000529054.1_Missense_Mutation_p.S261Y|MS4A6A_ENST00000530839.1_Missense_Mutation_p.S233Y|MS4A6A_ENST00000528851.1_3'UTR|MS4A6A_ENST00000426738.2_3'UTR	NM_152851.2	NP_690590.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	233						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATTTTTGAGGACATGCCAGA	0.333													20	70					2.41591e-17	2.85358e-17	1	0	T	59939680	G	T	59939680	3	4	354	1	0	0	0	0	1	0	0	0	9934	1174	41	2	52	2	MS4A6A	11	59939680	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	111034	59939680	75066836	90	66642											
SSSCA1	10534	broad.mit.edu	37	chr11	65338137	65338137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggtgctgcaggcgcgaCgggagcggcaagatcgcatc	9	4	17	11	6	0	1	0	0	0	1	2	4	0	2	0	4	3	4	0	4	2	0			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:65338137C>T	ENST00000526877.1	+	2	87	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	SSSCA1_ENST00000531405.1_5'UTR|SSSCA1_ENST00000527920.1_5'UTR|SSSCA1_ENST00000309328.3_Missense_Mutation_p.R28W			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	28					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						GCAGGCGCGACGGGAGCGGCA	0.667													9	47					0	0	0	0	T	65338137	C	T	65338137	3	4	354	1	0	0	0	0	1	0	0	0	15285	527	19	1	88	1	SSSCA1	11	65338137	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	5398457	65338137	69668379	91	66643											
LRP5	4041	broad.mit.edu	37	chr11	68125191	68125191	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatggcagcacccggaagAtcattgtggactcggacatt	10	9	13	9	2	1	1	1	0	0	1	2	5	1	5	1	5	1	2	1	5	1	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:68125191A>T	ENST00000294304.7	+	3	668	c.562A>T	c.(562-564)Atc>Ttc	p.I188F		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	188	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACCCGGAAGATCATTGTGGA	0.597													9	22					0	0	0	0	T	68125191	A	T	68125191	3	4	354	1	0	0	0	0	1	0	0	0	9024	333	12	5	572	5	LRP5	11	68125191	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	2787054	68125191	66881325	92	66644											
DLG2	1740	broad.mit.edu	37	chr11	83770484	83770484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctttactgtgggaaacctCtgacacatcaacctcattca	11	11	6	13	1	4	1	3	1	1	0	4	2	4	2	2	1	3	1	2	1	3	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:83770484C>T	ENST00000398309.2	-	6	948	c.478G>A	c.(478-480)Gag>Aag	p.E160K	DLG2_ENST00000532653.1_Missense_Mutation_p.E160K|DLG2_ENST00000524982.1_Missense_Mutation_p.E160K|DLG2_ENST00000398301.2_Missense_Mutation_p.E199K|DLG2_ENST00000531015.1_Missense_Mutation_p.E127K|DLG2_ENST00000418306.2_Missense_Mutation_p.E109K|DLG2_ENST00000280241.8_Missense_Mutation_p.E199K|DLG2_ENST00000376104.2_Missense_Mutation_p.E265K|DLG2_ENST00000543673.1_Missense_Mutation_p.E265K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.E99K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	160	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGGGAAACCTCTGACACATCA	0.473													7	47					0	0	0	0	T	83770484	C	T	83770484	3	4	354	1	0	0	0	0	1	0	0	0	4592	922	32	2	2256	2	DLG2	11	83770484	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	15645293	83770484	51236032	93	66645											
GRM5	2915	broad.mit.edu	37	chr11	88780494	88780494	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaatatttgaacagagTcttgtcactcagatccatgc	13	12	7	9	0	3	4	2	2	1	2	4	4	4	4	1	0	2	0	1	0	3	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:88780494T>C	ENST00000418177.2	-	2	914	c.547A>G	c.(547-549)Act>Gct	p.T183A	GRM5_ENST00000393294.3_Missense_Mutation_p.T183A|GRM5_ENST00000305447.4_Missense_Mutation_p.T183A|GRM5_ENST00000455756.2_Missense_Mutation_p.T183A|GRM5_ENST00000305432.5_Missense_Mutation_p.T183A|GRM5_ENST00000393297.1_Missense_Mutation_p.T183A			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	183					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTGAACAGAGTCTTGTCACTC	0.473													8	68					0	0	0	0	C	88780494	T	C	88780494	3	2	354	1	0	0	0	0	1	0	0	0	6850	1667	58	5	3127	5	GRM5	11	88780494	Missense_Mutation	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08	5010010	88780494	46226022	94	66646											
DSCAML1	57453	broad.mit.edu	37	chr11	117389306	117389306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgatggtggtgccgtccGacatggtgtactggttggtg	4	12	18	7	2	0	1	0	1	0	0	1	2	1	1	2	6	2	3	2	6	1	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:117389306G>A	ENST00000321322.6	-	7	1566	c.1565C>T	c.(1564-1566)tCg>tTg	p.S522L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S252L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	462	Ig-like C2-type 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTGCCGTCCGACATGGTGTA	0.682													24	74					0	0	0	0	A	117389306	G	A	117389306	3	1	354	1	0	0	0	0	1	0	0	0	4805	1059	37	1	4884	1	DSCAML1	11	117389306	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	28608812	117389306	17617210	95	66647											
TMPRSS13	84000	broad.mit.edu	37	chr11	117784600	117784600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagtagattttaagcagaGacttgtcccagtcaaacctc	13	10	8	10	0	1	3	1	0	0	3	3	4	2	3	2	0	2	2	2	0	3	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:117784600G>A	ENST00000528626.1	-	4	669	c.596C>T	c.(595-597)tCt>tTt	p.S199F	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.S234F|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.S234F|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.S234F|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.S234F	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	229	LDL-receptor class A.|SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TTTAAGCAGAGACTTGTCCCA	0.537													8	77					0	0	0	0	A	117784600	G	A	117784600	3	1	354	1	0	0	0	0	1	0	0	0	16339	942	33	2	1038	2	TMPRSS13	11	117784600	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	395294	117784600	17221916	96	66648											
JAM3	83700	broad.mit.edu	37	chr11	134014829	134014829	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccactgcccacggattcCagagccaatcccagatttcg	10	8	8	15	2	0	2	0	0	0	2	3	3	2	3	5	1	3	1	5	1	2	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr11:134014829C>A	ENST00000299106.4	+	5	711	c.552C>A	c.(550-552)tcC>tcA	p.S184S	JAM3_ENST00000441717.3_Silent_p.S133S|JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000529443.2_Silent_p.S229S			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	184	Ig-like C2-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CCACGGATTCCAGAGCCAATC	0.507													28	48					1.39806e-14	1.61619e-14	1	0	A	134014829	C	A	134014829	2	1	354	1	0	0	0	0	0	0	0	1	7997	581	21	4		4	JAM3	11	134014829	Silent	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	16230229	134014829	991687	97	66649											
TAS2R46	259292	broad.mit.edu	37	chr12	11214007	11214007	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcacccagtacctcacaTgccacaaaactgaaagaaaa	17	7	4	13	0	2	2	2	1	0	1	2	2	2	2	3	0	3	1	3	0	6	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:11214007T>C	ENST00000533467.1	-	1	886	c.887A>G	c.(886-888)cAt>cGt	p.H296R	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	296				HV -> QM (in Ref. 3).	sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GTACCTCACATGCCACAAAAC	0.418													8	198					0	0	0	0	C	11214007	T	C	11214007	3	2	354	1	0	0	0	0	1	0	0	0	15673	1464	51	5	46	5	TAS2R46	12	11214007	Missense_Mutation	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08		11214007	122637888	98	66650											
BAZ2A	11176	broad.mit.edu	37	chr12	56993064	56993064	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcggccatcaccctctgagaAgttcagcgaataaccacttt	11	9	8	13	2	3	1	2	1	1	1	3	3	3	1	3	1	2	1	3	1	3	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:56993064A>C	ENST00000179765.5	-	28	5360	c.5161T>G	c.(5161-5163)Ttc>Gtc	p.F1721V	BAZ2A_ENST00000551812.1_Missense_Mutation_p.F1753V|BAZ2A_ENST00000379441.3_Missense_Mutation_p.F1723V|BAZ2A_ENST00000549884.1_Missense_Mutation_p.F1751V			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1753					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCCTCTGAGAAGTTCAGCGAA	0.577													7	19					0	0	0	0	C	56993064	A	C	56993064	3	2	354	1	0	0	0	0	1	0	0	0	1335	72	3	5	472	5	BAZ2A	12	56993064	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	45779057	56993064	76858831	99	66651											
PAH	5053	broad.mit.edu	37	chr12	103246626	103246626	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatgggcttggatccatgtCtgatgtactgtgtgcagtgg	7	13	14	7	0	1	1	0	1	1	0	2	2	2	2	1	3	2	3	1	3	1	2	rs62514950		TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:103246626C>G	ENST00000553106.1	-	7	1281	c.809G>C	c.(808-810)aGa>aCa	p.R270T	PAH_ENST00000307000.2_Missense_Mutation_p.R265T	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	270			R -> K (in PKU).|R -> S (in PKU; haplotype 1).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GGATCCATGTCTGATGTACTG	0.562													6	102					0	0	0	0	G	103246626	C	G	103246626	3	3	354	1	0	0	0	0	1	0	0	0	11465	913	32	2	577	2	PAH	12	103246626	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	46253562	103246626	30605269	100	66652											
TMEM132D	121256	broad.mit.edu	37	chr12	129822330	129822330	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttccacctccacatcgAtctgcatgacctcgtaggag	8	10	8	15	2	2	1	0	1	2	0	6	3	4	2	4	1	1	3	4	1	1	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr12:129822330A>G	ENST00000422113.2	-	4	1474	c.1148T>C	c.(1147-1149)aTc>aCc	p.I383T		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	383						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTCCACATCGATCTGCATGAC	0.587													28	147					0	0	0	0	G	129822330	A	G	129822330	3	3	354	1	0	0	0	0	1	0	0	0	16141	333	12	5	2175	5	TMEM132D	12	129822330	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	26575704	129822330	4029565	101	66653											
SALL2	6297	broad.mit.edu	37	chr14	21992981	21992981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggggtgggtttgtggcttCgcccaacccctccagcagag	6	8	14	13	1	0	1	0	0	0	1	2	1	1	1	4	4	2	3	4	4	1	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr14:21992981C>T	ENST00000327430.3	-	2	1175	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.R157Q|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	294							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TTTGTGGCTTCGCCCAACCCC	0.602													8	45					0	0	0	0	T	21992981	C	T	21992981	3	4	354	1	0	0	0	0	1	0	0	0	13896	884	31	1	2146	1	SALL2	14	21992981	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08		21992981	85356559	102	66654											
PRKD1	5587	broad.mit.edu	37	chr14	30194874	30194874	+	Frame_Shift_Del	DEL	C	C	-																															cattccgtagaaaccacattCagggaactgcaaatacaaat																										TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr14:30194874delC	ENST00000331968.5	-	2	500	c.271delG	c.(271-273)aafs	p.E91fs	PRKD1_ENST00000415220.2_Frame_Shift_Del_p.E91fs	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	91					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AAACCACATTCAGGGAACTGC	0.378													10	69	---	---	---	---					-	30194874	C	-	30194874	7	5	354	1	0	1	0	1	0	0	0	0	12598	835	29	0	2535	0	PRKD1	14	30194874	Frame_Shift_Del	DEL	C	TCGA-CV-A6JZ-01A-11D-A31L-08	8201893	30194874	77154666	103	66655											
ABCD4	5826	broad.mit.edu	37	chr14	74766971	74766971	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattgcagatctaacctgggCctgaagagaaggtggggagg	12	7	16	6	0	1	3	0	1	1	2	1	5	1	4	2	5	2	1	2	5	4	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr14:74766971C>T	ENST00000356924.4	-	2	182	c.38_splice	c.e2-1	p.R13_splice	ABCD4_ENST00000557588.1_Splice_Site_p.R13_splice|ABCD4_ENST00000298816.7_Intron|ABCD4_ENST00000557554.1_5'UTR	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	13						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CTAACCTGGGCCTGAAGAGAA	0.458													13	65					0	0	0	0	T	74766971	C	T	74766971	5	4	354	1	0	0	0	0	0	0	1	0	63	753	26	4	1853	4	ABCD4	14	74766971	Splice_Site	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	44572097	74766971	32582569	104	66656											
NRXN3	9369	broad.mit.edu	37	chr14	79433711	79433711	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaagtggtcactcaggttAtcaatggtgccaaaaatctg	13	10	9	9	0	4	0	3	0	1	0	4	0	4	0	2	3	1	1	2	3	5	1			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr14:79433711A>T	ENST00000554719.1	+	10	2310	c.1819A>T	c.(1819-1821)Atc>Ttc	p.I607F	NRXN3_ENST00000335750.5_Missense_Mutation_p.I607F	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	198					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)		CACTCAGGTTATCAATGGTGC	0.408													6	25					0	0	0	0	T	79433711	A	T	79433711	3	4	354	1	0	0	0	0	1	0	0	0	10738	449	16	5	1849	5	NRXN3	14	79433711	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	4666740	79433711	27915829	105	66657											
IL16	3603	broad.mit.edu	37	chr15	81591754	81591754	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgataaaacacccactgcTtaagaggcaggctcggatgg	12	6	11	12	2	0	1	0	0	0	1	1	3	0	2	2	4	2	3	2	4	3	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr15:81591754T>G	ENST00000394660.2	+	14	2447	c.2087T>G	c.(2086-2088)cTt>cGt	p.L696R	IL16_ENST00000560230.1_Intron|IL16_ENST00000394652.2_5'UTR|IL16_ENST00000302987.4_Missense_Mutation_p.L696R	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	696					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACCCACTGCTTAAGAGGCAG	0.443													4	261					0	0	0	0	G	81591754	T	G	81591754	3	3	354	1	0	0	0	0	1	0	0	0	7686	1609	56	5	2137	5	IL16	15	81591754	Missense_Mutation	SNP	T	TCGA-CV-A6JZ-01A-11D-A31L-08		81591754	20939638	106	66658											
CASKIN1	57524	broad.mit.edu	37	chr16	2230946	2230946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcggcggcagcagctgcGgggtgggcttcaccttggcc	3	8	17	13	3	1	0	1	0	0	0	2	0	1	0	2	6	3	4	2	6	0	2			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr16:2230946G>A	ENST00000343516.6	-	18	2515	c.2423C>T	c.(2422-2424)cCg>cTg	p.P808L		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	808	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CAGCAGCTGCGGGGTGGGCTT	0.711													3	15					0	0	0	0	A	2230946	G	A	2230946	3	1	354	1	0	0	0	0	1	0	0	0	2691	1116	39	1	1884	1	CASKIN1	16	2230946	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08		2230946	88123807	107	66659											
PRR14	78994	broad.mit.edu	37	chr16	30666035	30666035	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtccctggggcttggccccGctcttccgttccgtccgctc	1	11	11	18	4	1	0	0	0	1	0	6	0	5	0	6	3	0	4	6	3	0	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr16:30666035G>A	ENST00000542965.2	+	7	1200	c.744G>A	c.(742-744)ccG>ccA	p.P248P	PRR14_ENST00000300835.4_Silent_p.P248P			Q9BWN1	PRR14_HUMAN	proline rich 14	248	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCTTGGCCCCGCTCTTCCGTT	0.647													15	57					0	0	0	0	A	30666035	G	A	30666035	2	1	354	1	0	0	0	0	0	0	0	1	12666	1074	38	1		1	PRR14	16	30666035	Silent	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	28435089	30666035	59688718	108	66660											
C16orf78	123970	broad.mit.edu	37	chr16	49407997	49407997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagaagaaacaagctccCgaggtgggtaccatccaaga	15	4	13	9	1	0	3	0	0	0	3	2	5	2	4	3	3	3	2	3	3	6	1			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr16:49407997C>T	ENST00000299191.3	+	1	264	c.147C>T	c.(145-147)ccC>ccT	p.P49P		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	49										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AACAAGCTCCCGAGGTGGGTA	0.512													10	52					0	0	0	0	T	49407997	C	T	49407997	2	4	354	1	0	0	0	0	0	0	0	1	1848	639	23	1		1	C16orf78	16	49407997	Silent	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	18741962	49407997	40946756	109	66661											
CDH11	1009	broad.mit.edu	37	chr16	65005520	65005520	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatttggattgtgaatgAtttcagggggtaggctgaag	11	13	15	2	0	1	4	1	4	0	0	1	5	1	5	0	4	0	2	0	4	4	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr16:65005520A>T	ENST00000394156.3	-	11	2057	c.1604T>A	c.(1603-1605)aTc>aAc	p.I535N	CDH11_ENST00000268603.4_Missense_Mutation_p.I535N|CDH11_ENST00000566827.1_Missense_Mutation_p.I409N			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ATTGTGAATGATTTCAGGGGG	0.428			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			8	43					0	0	0	0	T	65005520	A	T	65005520	3	4	354	1	0	0	0	0	1	0	0	0	3126	333	12	5	798	5	CDH11	16	65005520	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	15597523	65005520	25349233	110	66662											
KCTD19	146212	broad.mit.edu	37	chr16	67338385	67338385	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaatacacttccatgtacgCcagtagttcagagatgctct	11	12	7	11	1	2	1	1	0	1	1	3	2	3	1	2	0	3	4	2	0	4	6			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr16:67338385C>T	ENST00000304372.5	-	3	445	c.390G>A	c.(388-390)tgG>tgA	p.W130*	KCTD19_ENST00000562860.1_Intron	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	130						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TCCATGTACGCCAGTAGTTCA	0.478													16	88					0	0	0	0	T	67338385	C	T	67338385	4	4	354	1	0	0	0	0	0	1	0	0	8159	740	26	4	2446	4	KCTD19	16	67338385	Nonsense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	2332865	67338385	23016368	111	66663											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	7	6	13	15	3	2	0	2	0	0	0	4	0	3	0	3	3	4	3	3	3	1	0			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr17:7578403C>A	ENST00000420246.2	-	5	659	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000269305.4_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.C176F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	52					9.57634e-11	1.08399e-10	1	0	A	7578403	C	A	7578403	3	1	354	1	0	0	0	0	1	0	0	0	16476	710	25	4	771	4	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08		7578403	73616807	112	66664											
MYH10	4628	broad.mit.edu	37	chr17	8526320	8526320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccaccttggaaaacttaGgtgggttcatcttctgaata	10	13	8	10	0	3	1	1	1	2	0	4	2	4	2	3	3	1	1	3	3	5	5			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr17:8526320G>C	ENST00000360416.3	-	2	383	c.245C>G	c.(244-246)cCt>cGt	p.P82R	MYH10_ENST00000396239.1_Missense_Mutation_p.P82R|MYH10_ENST00000379980.4_Missense_Mutation_p.P82R|MYH10_ENST00000269243.4_Missense_Mutation_p.P82R	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	82	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGAAAACTTAGGTGGGTTCAT	0.398													54	132					0	0	0	0	C	8526320	G	C	8526320	3	2	354	1	0	0	0	0	1	0	0	0	10100	1000	35	4	5845	4	MYH10	17	8526320	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	947917	8526320	72668890	113	66665											
ACBD4	79777	broad.mit.edu	37	chr17	43214804	43214804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgcctccccaaggaacCggcacccccaagcccaggtt	8	5	8	20	1	0	0	0	0	0	0	2	1	2	1	8	3	3	2	8	3	3	1			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr17:43214804C>T	ENST00000431281.1	+	8	954	c.485C>T	c.(484-486)cCg>cTg	p.P162L	ACBD4_ENST00000586346.1_Missense_Mutation_p.P162L|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000592162.1_Missense_Mutation_p.P162L|ACBD4_ENST00000591859.1_Missense_Mutation_p.P162L|ACBD4_ENST00000398322.3_Missense_Mutation_p.P162L|ACBD4_ENST00000376955.4_Missense_Mutation_p.P162L|ACBD4_ENST00000321854.8_Missense_Mutation_p.P162L	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	162							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CCCAAGGAACCGGCACCCCCA	0.627													8	68					0	0	0	0	T	43214804	C	T	43214804	3	4	354	1	0	0	0	0	1	0	0	0	124	652	23	1	503	1	ACBD4	17	43214804	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	34688484	43214804	37980406	114	66666											
ANKFN1	162282	broad.mit.edu	37	chr17	54452067	54452067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatgcagctgtagtaaccaGgtataaaggtactggaccca	14	8	10	9	0	0	0	0	0	0	0	0	1	0	1	2	3	4	6	2	3	7	5			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr17:54452067G>T	ENST00000566473.2	+	7	911	c.911G>T	c.(910-912)aGg>aTg	p.R304M	ANKFN1_ENST00000318698.2_Missense_Mutation_p.R304M			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	304	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GTAGTAACCAGGTATAAAGGT	0.433													14	91					1.5739e-10	1.76928e-10	1	0	T	54452067	G	T	54452067	3	4	354	1	0	0	0	0	1	0	0	0	625	1000	35	4	937	4	ANKFN1	17	54452067	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	11237263	54452067	26743143	115	66667											
SGSH	6448	broad.mit.edu	37	chr17	78184575	78184575	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtcctggtcgatgggaaaGggcatcttgaagttgaggtt	10	11	15	5	1	1	2	0	2	1	0	3	4	2	3	1	4	0	3	1	4	3	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr17:78184575G>T	ENST00000326317.6	-	8	1271	c.1185C>A	c.(1183-1185)ccC>ccA	p.P395P	SGSH_ENST00000534910.1_Silent_p.P192P	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	395					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGATGGGAAAGGGCATCTTGA	0.617													4	162					0.014758	0.0151293	1	0	T	78184575	G	T	78184575	2	4	354	1	0	0	0	0	0	0	0	1	14308	987	35	4		4	SGSH	17	78184575	Silent	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	23732508	78184575	3010635	116	66668											
NCLN	56926	broad.mit.edu	37	chr19	3198880	3198880	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtggcccactacgacgcCtttggagtggcccccgtacg	6	8	12	15	5	0	0	0	0	0	0	1	2	0	1	4	3	2	1	4	3	2	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:3198880C>T	ENST00000246117.4	+	5	1112	c.681C>T	c.(679-681)gcC>gcT	p.A227A	NCLN_ENST00000590671.1_Silent_p.A153A	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	227					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTACGACGCCTTTGGAGTGG	0.647													7	70					0	0	0	0	T	3198880	C	T	3198880	2	4	354	1	0	0	0	0	0	0	0	1	10297	668	24	4		4	NCLN	19	3198880	Silent	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08		3198880	55930103	117	66669											
MUC16	94025	broad.mit.edu	37	chr19	9063043	9063043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtgctcatctctgtggCtaagctggtcccctcagagc	7	10	11	13	0	3	1	2	0	1	1	5	2	4	1	2	2	3	3	2	2	1	1			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:9063043C>A	ENST00000397910.4	-	3	24606	c.24403G>T	c.(24403-24405)Gcc>Tcc	p.A8135S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8137	Ser-rich.|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						ATCTCTGTGGCTAAGCTGGTC	0.527													16	98					1.45105e-14	1.66564e-14	1	0	A	9063043	C	A	9063043	3	1	354	1	0	0	0	0	1	0	0	0	10043	797	28	4	19448	4	MUC16	19	9063043	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	5864163	9063043	50065940	118	66670											
ZNF700	90592	broad.mit.edu	37	chr19	12060399	12060399	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaggcttttattctgcCaagtcatttcaaacacatga	14	12	7	8	0	3	2	2	1	1	1	3	3	3	2	1	1	2	1	1	1	4	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:12060399C>T	ENST00000482090.1	+	3	1924	c.1506C>T	c.(1504-1506)gcC>gcT	p.A502A	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Silent_p.A520A|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTTATTCTGCCAAGTCATTTC	0.378													14	52					0	0	0	0	T	12060399	C	T	12060399	2	4	354	1	0	0	0	0	0	0	0	1	18199	581	21	4		4	ZNF700	19	12060399	Silent	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	2997356	12060399	47068584	119	66671											
SIN3B	23309	broad.mit.edu	37	chr19	16957917	16957917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgcccgaagccaagcGgtctctggtgagtgccgaga	7	8	14	12	3	1	2	0	1	1	1	3	4	2	2	4	2	4	1	4	2	2	1			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:16957917G>A	ENST00000379803.1	+	5	733	c.719G>A	c.(718-720)cGg>cAg	p.R240Q	SIN3B_ENST00000248054.5_Missense_Mutation_p.R240Q|SIN3B_ENST00000596802.1_Missense_Mutation_p.R240Q	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	240					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAAGCCAAGCGGTCTCTGGTG	0.652													4	67					0	0	0	0	A	16957917	G	A	16957917	3	1	354	1	0	0	0	0	1	0	0	0	14414	1116	39	1	737	1	SIN3B	19	16957917	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	4897518	16957917	42171066	120	66672											
ZNF737	100129842	broad.mit.edu	37	chr19	20728474	20728474	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactggttaaaagctttgcCacattctatacatttgaaag	14	13	7	7	0	1	2	0	1	1	1	1	2	1	2	1	1	3	2	1	1	5	6			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:20728474C>G	ENST00000427401.4	-	4	629	c.535G>C	c.(535-537)Ggc>Cgc	p.G179R		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	179					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AAAGCTTTGCCACATTCTATA	0.333													6	19					0	0	0	0	G	20728474	C	G	20728474	3	3	354	1	0	0	0	0	1	0	0	0	18220	594	21	4	1079	4	ZNF737	19	20728474	Missense_Mutation	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08	3770557	20728474	38400509	121	66673											
ZNF536	9745	broad.mit.edu	37	chr19	30936565	30936565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taacgtcaccgaggagagcgGggtcggaggcggcctctccc	7	5	16	13	5	2	1	1	0	1	1	4	4	2	2	3	6	2	0	3	6	1	1			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:30936565G>T	ENST00000355537.3	+	2	2243	c.2096G>T	c.(2095-2097)gGg>gTg	p.G699V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAGGAGAGCGGGGTCGGAGGC	0.692													6	30					0.00198382	0.00205963	1	0	T	30936565	G	T	30936565	3	4	354	1	0	0	0	0	1	0	0	0	18069	1232	43	4	2098	4	ZNF536	19	30936565	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	10208091	30936565	28192418	122	66674											
LILRB1	10859	broad.mit.edu	37	chr19	55143049	55143049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggggggccaggagacccagGagtaccgtctatatagagaa	13	5	15	8	1	1	2	0	0	1	2	1	5	1	3	3	5	1	1	3	5	5	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr19:55143049G>A	ENST00000396331.1	+	5	526	c.169G>A	c.(169-171)Gag>Aag	p.E57K	LILRB1_ENST00000324602.7_Missense_Mutation_p.E57K|LILRB1_ENST00000396315.1_Missense_Mutation_p.E57K|LILRB1_ENST00000396317.1_Missense_Mutation_p.E57K|LILRB1_ENST00000396321.2_Missense_Mutation_p.E57K|LILRB1_ENST00000448689.1_Missense_Mutation_p.E57K|LILRB1_ENST00000396327.3_Missense_Mutation_p.E57K|LILRB1_ENST00000418536.2_Missense_Mutation_p.E57K|LILRB1_ENST00000427581.2_Missense_Mutation_p.E93K|LILRB1_ENST00000396332.4_Missense_Mutation_p.E57K|LILRB1_ENST00000434867.2_Missense_Mutation_p.E57K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	57	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGAGACCCAGGAGTACCGTCT	0.582										HNSCC(37;0.09)			6	149					0	0	0	0	A	55143049	G	A	55143049	3	1	354	1	0	0	0	0	1	0	0	0	8844	1175	41	2	179	2	LILRB1	19	55143049	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08	24206484	55143049	3985934	123	66675											
KIF3B	9371	broad.mit.edu	37	chr20	30898400	30898400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatcaacctctccctttccGctttgggtaatgtcatctct	7	15	6	13	1	4	1	2	0	2	1	7	1	5	1	3	1	1	2	3	1	2	3			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr20:30898400G>A	ENST00000375712.3	+	2	987	c.820G>A	c.(820-822)Gct>Act	p.A274T	KIF3B_ENST00000418717.2_5'UTR	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	274	Kinesin-motor.				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|plus-end-directed microtubule motor activity|Rho GTPase binding			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)			CTCCCTTTCCGCTTTGGGTAA	0.507													4	52					0	0	0	0	A	30898400	G	A	30898400	3	1	354	1	0	0	0	0	1	0	0	0	8352	1087	38	1	822	1	KIF3B	20	30898400	Missense_Mutation	SNP	G	TCGA-CV-A6JZ-01A-11D-A31L-08		30898400	32127120	124	66676											
ZNF217	7764	broad.mit.edu	37	chr20	52192996	52192996	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcttgggtttacagaaactAgagaggggaggcacatcttt	11	10	14	6	0	1	2	0	0	1	2	1	4	1	3	0	5	2	3	0	5	3	5			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr20:52192996A>T	ENST00000371471.2	-	4	2732	c.2307T>A	c.(2305-2307)tcT>tcA	p.S769S	ZNF217_ENST00000302342.3_Silent_p.S769S			O75362	ZN217_HUMAN	zinc finger protein 217	769					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TACAGAAACTAGAGAGGGGAG	0.562													20	45					0	0	0	0	T	52192996	A	T	52192996	2	4	354	1	0	0	0	0	0	0	0	1	17867	407	15	5		5	ZNF217	20	52192996	Silent	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	21294596	52192996	10832524	125	66677											
CABLES2	81928	broad.mit.edu	37	chr20	60967494	60967494	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgggggaacttctccctgaAggtctcgttcatgtcctttt	6	15	10	10	1	3	1	1	1	2	0	6	2	4	2	2	3	1	1	2	3	2	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr20:60967494A>T	ENST00000279101.5	-	8	1050	c.1042T>A	c.(1042-1044)Ttc>Atc	p.F348I		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	348					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TTCTCCCTGAAGGTCTCGTTC	0.572													19	152					0	0	0	0	T	60967494	A	T	60967494	3	4	354	1	0	0	0	0	1	0	0	0	2555	72	3	5	406	5	CABLES2	20	60967494	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	8774498	60967494	2058026	126	66678											
TMPRSS2	7113	broad.mit.edu	37	chr21	42866455	42866455	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgggataggggttttcCggttggtatccatggttttc	4	16	15	6	2	0	0	0	0	0	0	3	1	2	1	2	6	1	4	2	6	2	7			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chr21:42866455C>T	ENST00000398585.3	-	3	237	c.177G>A	c.(175-177)ccG>ccA	p.P59P	TMPRSS2_ENST00000458356.1_Silent_p.P22P|TMPRSS2_ENST00000332149.5_Silent_p.P22P|TMPRSS2_ENST00000497881.1_Intron	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	22					proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AGGGGTTTTCCGGTTGGTATC	0.512			T	"ERG, ETV1, ETV4, ETV5"	prostate								20	71					0	0	0	0	T	42866455	C	T	42866455	2	4	354	1	0	0	0	0	0	0	0	1	16341	639	23	1		1	TMPRSS2	21	42866455	Silent	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08		42866455	5263440	127	66679											
HUWE1	10075	broad.mit.edu	37	chrX	53620323	53620323	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagaatactgaatactcaCtttctgagttaccacaagga	14	13	6	8	0	2	3	1	2	1	1	2	4	2	4	1	1	3	1	1	1	7	6			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chrX:53620323C>A	ENST00000342160.3	-	31	4199		c.e31+1		HUWE1_ENST00000218328.8_Splice_Site|HUWE1_ENST00000262854.6_Splice_Site			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGAATACTCACTTTCTGAGTT	0.423													6	19					8.12818e-05	8.60321e-05	1	0	A	53620323	C	A	53620323	5	1	354	1	0	0	0	0	0	0	1	0	7514	579	20	4	9594	4	HUWE1	23	53620323	Splice_Site	SNP	C	TCGA-CV-A6JZ-01A-11D-A31L-08		53620323	101650237	128	66680											
GPRASP1	9737	broad.mit.edu	37	chrX	101912650	101912650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcactactactactgactAtcacacactggttgccaatt	11	13	4	13	0	2	1	2	1	1	0	3	1	2	1	1	1	4	1	1	1	5	6			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chrX:101912650A>G	ENST00000537097.1	+	6	4622	c.3809A>G	c.(3808-3810)tAt>tGt	p.Y1270C	GPRASP1_ENST00000361600.5_Missense_Mutation_p.Y1270C|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.Y1270C|GPRASP1_ENST00000444152.1_Missense_Mutation_p.Y1270C	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1270	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACTACTGACTATCACACACTG	0.403													19	37					0	0	0	0	G	101912650	A	G	101912650	3	3	354	1	0	0	0	0	1	0	0	0	6772	449	16	5	3811	5	GPRASP1	23	101912650	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	48292327	101912650	53357910	129	66681											
BHLHB9	80823	broad.mit.edu	37	chrX	102004842	102004842	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcagggaggtaaatgggAttaagccatttgcttgtcct	10	12	13	6	0	1	0	1	0	0	0	2	3	2	3	2	4	2	2	2	4	3	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chrX:102004842A>G	ENST00000372735.1	+	4	1504	c.919A>G	c.(919-921)Att>Gtt	p.I307V	BHLHB9_ENST00000457056.1_Missense_Mutation_p.I307V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.I307V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.I307V|BHLHB9_ENST00000361229.4_Missense_Mutation_p.I307V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	307						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTAAATGGGATTAAGCCATT	0.408													14	27					0	0	0	0	G	102004842	A	G	102004842	3	3	354	1	0	0	0	0	1	0	0	0	1425	333	12	5	921	5	BHLHB9	23	102004842	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	92192	102004842	53265718	130	66682											
ARHGEF6	9459	broad.mit.edu	37	chrX	135814307	135814307	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtttcaaatcctttgAcggcttttggggagagaggt	9	12	14	6	1	1	2	1	1	0	1	2	5	2	3	1	4	1	3	1	4	1	4			TCGA-CV-A6JZ-01A-11D-A31L-08	TCGA-CV-A6JZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebd2cec4-8169-426c-a8b8-78e6e81dc5b8	4f5561c5-8cd4-466f-a995-9416fa729264	g.chrX:135814307A>G	ENST00000250617.6	-	6	1891	c.686T>C	c.(685-687)gTc>gCc	p.V229A	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.V75A|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.V75A|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.V102A	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	229					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AAATCCTTTGACGGCTTTTGG	0.328													5	7					0	0	0	0	G	135814307	A	G	135814307	3	3	354	1	0	0	0	0	1	0	0	0	912	275	10	5	1712	5	ARHGEF6	23	135814307	Missense_Mutation	SNP	A	TCGA-CV-A6JZ-01A-11D-A31L-08	33809465	135814307	19456253	131	66683											
HMGB4	127540	broad.mit.edu	37	chr1	34330062	34330062	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacggagaaagcgggatccCcaggaacccagacggcctcc	13	2	12	14	3	0	2	0	0	0	2	2	5	2	4	5	4	3	0	5	4	3	0			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr1:34330062C>T	ENST00000522796.1	+	4	2175	c.270C>T	c.(268-270)ccC>ccT	p.P90P	HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Silent_p.P90P|CSMD2_ENST00000373381.4_Intron			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	90						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGCGGGATCCCCAGGAACCCA	0.532													4	125					0	0	0	0	T	34330062	C	T	34330062	2	4	355	1	0	0	0	0	0	0	0	1	7278	610	22	4		4	HMGB4	1	34330062	Silent	SNP	C	TCGA-CV-A6K0-01B-21D-A31L-08		34330062	214920559	1	66684											
APOB	338	broad.mit.edu	37	chr2	21236228	21236228	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatacaacttgggaatggtAaaagtagggacttggaactc	14	10	12	5	0	0	1	0	1	0	0	1	4	0	4	0	4	3	2	0	4	7	5			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr2:21236228A>C	ENST00000233242.1	-	25	4147	c.4020T>G	c.(4018-4020)ttT>ttG	p.F1340L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1340					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGGAATGGTAAAAGTAGGGA	0.488													4	106					0	0	0	0	C	21236228	A	C	21236228	3	2	355	1	0	0	0	0	1	0	0	0	787	359	13	5	9691	5	APOB	2	21236228	Missense_Mutation	SNP	A	TCGA-CV-A6K0-01B-21D-A31L-08		21236228	221963145	2	66685											
PTPN18	26469	broad.mit.edu	37	chr2	131116497	131116497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtgctccaccgtggccGgcagtcggccagagaacgtg	6	6	16	13	5	0	1	0	0	0	1	2	2	1	1	4	3	2	2	4	3	1	0			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr2:131116497G>A	ENST00000175756.5	+	2	252	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	51	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CACCGTGGCCGGCAGTCGGCC	0.637													8	100					0	0	0	0	A	131116497	G	A	131116497	3	1	355	1	0	0	0	0	1	0	0	0	12864	1116	39	1	157	1	PTPN18	2	131116497	Missense_Mutation	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08	109880269	131116497	112082876	3	66686											
SPOPL	339745	broad.mit.edu	37	chr2	139326635	139326635	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttggcattccacgcaaacgGctaaaacagtcctgaaatct	13	10	7	11	2	1	1	0	1	1	0	3	1	3	1	2	2	2	3	2	2	4	3			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr2:139326635G>A	ENST00000280098.4	+	11	1543	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	388						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CACGCAAACGGCTAAAACAGT	0.443													5	263					0	0	0	0	A	139326635	G	A	139326635	2	1	355	1	0	0	0	0	0	0	0	1	15175	1190	42	4		4	SPOPL	2	139326635	Silent	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08	8210138	139326635	103872738	4	66687											
IL17RB	55540	broad.mit.edu	37	chr3	53883708	53883708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccagagtggatgctacaaCatgatctaatccccggagac	12	8	9	12	1	1	3	0	1	1	2	3	5	3	4	3	2	3	1	3	2	3	2			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr3:53883708C>A	ENST00000288167.3	+	3	121	c.112C>A	c.(112-114)Cat>Aat	p.H38N		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	38					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		GATGCTACAACATGATCTAAT	0.488													4	101					0.00024832	0.000269013	1	0	A	53883708	C	A	53883708	3	1	355	1	0	0	0	0	1	0	0	0	7693	478	17	4	122	4	IL17RB	3	53883708	Missense_Mutation	SNP	C	TCGA-CV-A6K0-01B-21D-A31L-08		53883708	144138722	5	66688											
OR5K1	26339	broad.mit.edu	37	chr3	98188907	98188907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgattcatgtagggcttGtatttaggttagttttctgt	7	19	10	5	0	2	1	1	1	1	0	2	1	2	1	1	2	0	5	1	2	4	9			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr3:98188907G>T	ENST00000332650.5	+	1	584	c.487G>T	c.(487-489)Gta>Tta	p.V163L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTAGGGCTTGTATTTAGGTT	0.408													4	120					4.096e-09	4.56411e-09	1	0	T	98188907	G	T	98188907	3	4	355	1	0	0	0	0	1	0	0	0	11237	1377	48	4	489	4	OR5K1	3	98188907	Missense_Mutation	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08	44305199	98188907	99833523	6	66689											
RAB7A	7879	broad.mit.edu	37	chr3	128526443	128526443	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaacaacattccctactttGagaccagtgccaaggaggcc	14	7	8	12	0	0	1	0	1	0	1	1	3	1	2	4	2	4	0	4	2	5	3			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr3:128526443G>C	ENST00000265062.3	+	5	703	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	RAB7A_ENST00000482525.1_Missense_Mutation_p.E106Q|RAB7A_ENST00000485280.1_Intron	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	153					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		TCCCTACTTTGAGACCAGTGC	0.552													9	115					0	0	0	0	C	128526443	G	C	128526443	3	2	355	1	0	0	0	0	1	0	0	0	13036	1291	45	2	471	2	RAB7A	3	128526443	Missense_Mutation	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08	30337536	128526443	69495987	7	66690											
CC2D2A	57545	broad.mit.edu	37	chr4	15504111	15504111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaattttccatgaggggaCgcatgagggagaaattgcaa	14	8	13	6	1	0	4	0	2	0	2	1	6	1	5	1	3	1	2	1	3	3	3			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr4:15504111C>T	ENST00000424120.1	+	5	561	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	CC2D2A_ENST00000389652.5_Missense_Mutation_p.R54C|CC2D2A_ENST00000503292.1_Missense_Mutation_p.R103C|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_Missense_Mutation_p.R103C			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	103					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CATGAGGGGACGCATGAGGGA	0.388													6	48					0	0	0	0	T	15504111	C	T	15504111	3	4	355	1	0	0	0	0	1	0	0	0	2753	536	19	1	524	1	CC2D2A	4	15504111	Missense_Mutation	SNP	C	TCGA-CV-A6K0-01B-21D-A31L-08		15504111	175650165	8	66691											
RXFP3	51289	broad.mit.edu	37	chr5	33937183	33937183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagagcatgcagggctggcGcaagtcctctatcaacctct	10	8	11	12	1	3	1	1	0	2	1	4	2	4	1	2	2	3	4	2	2	4	1			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr5:33937183G>A	ENST00000330120.3	+	1	693	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	113						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CAGGGCTGGCGCAAGTCCTCT	0.592													5	66					0	0	0	0	A	33937183	G	A	33937183	3	1	355	1	0	0	0	0	1	0	0	0	13846	1087	38	1	340	1	RXFP3	5	33937183	Missense_Mutation	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08		33937183	146978077	9	66692											
SLC45A2	51151	broad.mit.edu	37	chr5	33947385	33947385	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggagtagacattcgggaaGagcccaataaatcccgtccc	12	7	11	11	2	0	2	0	0	0	2	3	4	2	4	3	2	1	1	3	2	5	3			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr5:33947385G>A	ENST00000382102.3	-	6	1308	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	SLC45A2_ENST00000342059.3_Silent_p.L358L|SLC45A2_ENST00000296589.4_Silent_p.L417L	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	417					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CATTCGGGAAGAGCCCAATAA	0.483													10	127					0	0	0	0	A	33947385	G	A	33947385	2	1	355	1	0	0	0	0	0	0	0	1	14729	929	33	2		2	SLC45A2	5	33947385	Silent	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08	10202	33947385	146967875	10	66693											
KIF4B	285643	broad.mit.edu	37	chr5	154394712	154394712	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtgaatgaaaaactgaaCgccaagctagaagagctcag	18	5	10	8	1	1	5	1	3	0	2	1	5	1	5	1	0	4	2	1	0	8	1			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr5:154394712C>T	ENST00000435029.4	+	1	1453	c.1293C>T	c.(1291-1293)aaC>aaT	p.N431N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	431					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAAACTGAACGCCAAGCTAG	0.448													6	97					0	0	0	0	T	154394712	C	T	154394712	2	4	355	1	0	0	0	0	0	0	0	1	8355	535	19	1		1	KIF4B	5	154394712	Silent	SNP	C	TCGA-CV-A6K0-01B-21D-A31L-08	120447327	154394712	26520548	11	66694											
ESRP1	54845	broad.mit.edu	37	chr8	95690546	95690546	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactgcagccctccacagcGtactacccagcaggcactca	10	5	8	18	1	1	0	1	0	0	0	2	0	2	0	3	1	6	5	3	1	2	2			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr8:95690546G>A	ENST00000433389.2	+	13	1957	c.1767G>A	c.(1765-1767)gcG>gcA	p.A589A	ESRP1_ENST00000358397.5_Silent_p.A585A|ESRP1_ENST00000454170.2_Silent_p.A589A|ESRP1_ENST00000423620.2_Silent_p.A585A	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	589					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CCTCCACAGCGTACTACCCAG	0.512													4	60					0	0	0	0	A	95690546	G	A	95690546	2	1	355	1	0	0	0	0	0	0	0	1	5296	1132	40	1		1	ESRP1	8	95690546	Silent	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08		95690546	50673476	12	66695											
SLC27A4	10999	broad.mit.edu	37	chr9	131115818	131115818	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgcattccctgccagcCaggtctgccacttcggggtc	4	10	11	16	2	2	0	0	0	2	0	5	0	3	0	4	3	4	1	4	3	0	2			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr9:131115818C>G	ENST00000300456.3	+	9	1439	c.1322C>G	c.(1321-1323)cCa>cGa	p.P441R	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	441					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CCCTGCCAGCCAGGTCTGCCA	0.642													5	73					0	0	0	0	G	131115818	C	G	131115818	3	3	355	1	0	0	0	0	1	0	0	0	14616	594	21	4	1352	4	SLC27A4	9	131115818	Missense_Mutation	SNP	C	TCGA-CV-A6K0-01B-21D-A31L-08		131115818	10097613	13	66696											
ALOX5	240	broad.mit.edu	37	chr10	45941110	45941110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttactacttgtccccagaccGgattccgaacagtgtggcca	9	10	9	13	2	0	1	0	0	0	1	2	3	2	2	5	2	3	0	5	2	3	4			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr10:45941110G>A	ENST00000374391.2	+	14	2053	c.2000G>A	c.(1999-2001)cGg>cAg	p.R667Q	ALOX5_ENST00000542434.1_Missense_Mutation_p.R610Q|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	667	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TCCCCAGACCGGATTCCGAAC	0.587													8	83					0	0	0	0	A	45941110	G	A	45941110	3	1	355	1	0	0	0	0	1	0	0	0	540	1116	39	1	2054	1	ALOX5	10	45941110	Missense_Mutation	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08		45941110	89593637	14	66697											
UNC5B	219699	broad.mit.edu	37	chr10	73046597	73046597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacatcgtggccaaacgccGgagcaccactgccaccgtca	11	4	10	16	4	1	0	1	0	0	0	2	2	1	1	5	2	4	1	5	2	2	0			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr10:73046597G>A	ENST00000335350.6	+	5	1120	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	UNC5B_ENST00000373192.4_Missense_Mutation_p.R235Q	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	235	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCAAACGCCGGAGCACCACT	0.647													7	203					0	0	0	0	A	73046597	G	A	73046597	3	1	355	1	0	0	0	0	1	0	0	0	17088	1116	39	1	722	1	UNC5B	10	73046597	Missense_Mutation	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08	27105487	73046597	62488150	15	66698											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118396277	118396278	+	RNA	INS	-	-	T																															tgactaacagacaaattatgINSgttttttttttccactagag																								rs148140777	by1000genomes	TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													3	5	---	---	---	---					T	118396278	-	T	118396277	6	5	355	0	1	1	1	0	0	0	0	0	12223	1363	47	0		0	PNLIPRP2	10	118396277	RNA	INS	-	TCGA-CV-A6K0-01B-21D-A31L-08	45349680	118396277	17138470	16	66699											
JAKMIP3	282973	broad.mit.edu	37	chr10	133967303	133967303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagaggcggcgctgcagcGgaagatggtggatctggaga	10	5	19	7	3	1	3	0	0	1	3	1	7	1	5	0	6	2	2	0	6	1	0			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr10:133967303G>A	ENST00000298622.4	+	17	2246	c.2108G>A	c.(2107-2109)cGg>cAg	p.R703Q	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCGCTGCAGCGGAAGATGGTG	0.637													6	160					0	0	0	0	A	133967303	G	A	133967303	3	1	355	1	0	0	0	0	1	0	0	0	7995	1116	39	1	2174	1	JAKMIP3	10	133967303	Missense_Mutation	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08	15571026	133967303	1567444	17	66700											
ARHGAP1	392	broad.mit.edu	37	chr11	46703669	46703669	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgtcgctggtcaggccGtggtgcagatacagaagtgt	7	12	15	7	2	1	2	1	0	0	2	2	2	1	2	1	3	2	3	1	3	2	3			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr11:46703669G>A	ENST00000311956.4	-	5	478	c.381C>T	c.(379-381)caC>caT	p.H127H		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	127	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TGGTCAGGCCGTGGTGCAGAT	0.607													6	135					0	0	0	0	A	46703669	G	A	46703669	2	1	355	1	0	0	0	0	0	0	0	1	863	1136	40	1		1	ARHGAP1	11	46703669	Silent	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08		46703669	88302847	18	66701											
FAT3	120114	broad.mit.edu	37	chr11	92087645	92087645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaaagtccttatgcccatGgatcgagaacacacagacct	13	9	7	12	1	0	2	0	0	0	2	2	4	1	3	3	1	2	0	3	1	4	2			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr11:92087645G>T	ENST00000298047.6	+	1	2384	c.2367G>T	c.(2365-2367)atG>atT	p.M789I	FAT3_ENST00000525166.1_Missense_Mutation_p.M639I|FAT3_ENST00000541502.1_Missense_Mutation_p.M789I|FAT3_ENST00000409404.2_Missense_Mutation_p.M789I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	789	Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTATGCCCATGGATCGAGAAC	0.408										TCGA Ovarian(4;0.039)			3	48					0.00909568	0.00958734	1	0	T	92087645	G	T	92087645	3	4	355	1	0	0	0	0	1	0	0	0	5736	1348	47	4	2369	4	FAT3	11	92087645	Missense_Mutation	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08	45383976	92087645	42918871	19	66702											
CPNE8	144402	broad.mit.edu	37	chr12	39079337	39079337	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaagttggtgggcccatatAgttgtacagatttcagactc	11	12	10	8	0	1	2	1	0	0	2	2	2	1	2	1	2	1	3	1	2	4	6			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr12:39079337A>G	ENST00000331366.5	-	16	1322	c.1226T>C	c.(1225-1227)cTa>cCa	p.L409P	CPNE8_ENST00000538596.2_Missense_Mutation_p.L78P|CPNE8_ENST00000360449.3_Missense_Mutation_p.L397P	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	409	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GGGCCCATATAGTTGTACAGA	0.428													3	84					0	0	0	0	G	39079337	A	G	39079337	3	3	355	1	0	0	0	0	1	0	0	0	3848	420	15	5	488	5	CPNE8	12	39079337	Missense_Mutation	SNP	A	TCGA-CV-A6K0-01B-21D-A31L-08		39079337	94772558	20	66703											
GNS	2799	broad.mit.edu	37	chr12	65122744	65122744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgctatacttaccaaaatggGcaataaggacatcccatcca	15	8	6	12	1	0	0	0	0	0	0	2	1	2	1	3	2	2	2	3	2	7	4			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr12:65122744G>A	ENST00000258145.3	-	10	1362	c.1192C>T	c.(1192-1194)Ccc>Tcc	p.P398S	GNS_ENST00000418919.2_Missense_Mutation_p.P342S|GNS_ENST00000543646.1_Missense_Mutation_p.P430S|GNS_ENST00000542058.1_Missense_Mutation_p.P378S	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	398						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACCAAAATGGGCAATAAGGAC	0.408													3	39					0	0	0	0	A	65122744	G	A	65122744	3	1	355	1	0	0	0	0	1	0	0	0	6601	1203	42	4	486	4	GNS	12	65122744	Missense_Mutation	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08	26043407	65122744	68729151	21	66704											
SYNE2	23224	broad.mit.edu	37	chr14	64612904	64612904	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttacaaaaacctgaaaGtgtgatctcagtgcagaagc	16	9	8	8	0	1	3	1	2	1	1	2	3	1	3	1	0	5	1	1	0	6	2			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr14:64612904G>C	ENST00000357395.3	+	85	15901	c.4757G>C	c.(4756-4758)aGt>aCt	p.S1586T	SYNE2_ENST00000394768.2_Missense_Mutation_p.S1586T|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1835T|SYNE2_ENST00000554584.1_Missense_Mutation_p.S5118T|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.S5201T|SYNE2_ENST00000344113.4_Missense_Mutation_p.S5201T			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5201					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACCTGAAAGTGTGATCTCA	0.478													6	43					0	0	0	0	C	64612904	G	C	64612904	3	2	355	1	0	0	0	0	1	0	0	0	15537	1029	36	4	15932	4	SYNE2	14	64612904	Missense_Mutation	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08		64612904	42736636	22	66705											
CCNF	899	broad.mit.edu	37	chr16	2499864	2499864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctgtgggacctcaccGgattctcctatgaagacctc	8	10	9	14	1	3	2	2	1	1	1	5	4	3	4	4	2	1	1	4	2	2	2			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr16:2499864G>A	ENST00000397066.4	+	13	1523	c.1435G>A	c.(1435-1437)Gga>Aga	p.G479R		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	479					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	p.G479V(1)|p.G479*(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGACCTCACCGGATTCTCCTA	0.617													5	184					0	0	0	0	A	2499864	G	A	2499864	3	1	355	1	0	0	0	0	1	0	0	0	2951	1117	39	1	1485	1	CCNF	16	2499864	Missense_Mutation	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08		2499864	87854889	23	66706											
FLYWCH1	84256	broad.mit.edu	37	chr16	2983952	2983952	+	Frame_Shift_Del	DEL	C	C	-																															ctgaggcagcgggagaaacgCcccaacacggcgcagcgggg																										TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr16:2983952delC	ENST00000399667.2	+	6	1848	c.1485delC	c.(1483-1485)cgfs	p.R495fs	FLYWCH1_ENST00000416288.2_Frame_Shift_Del_p.R494fs|FLYWCH1_ENST00000253928.9_Frame_Shift_Del_p.R495fs			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	495						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GGGAGAAACGCCCCAACACGG	0.716													2	4	---	---	---	---					-	2983952	C	-	2983952	7	5	355	1	0	1	0	1	0	0	0	0	5992	726	26	0	1496	0	FLYWCH1	16	2983952	Frame_Shift_Del	DEL	C	TCGA-CV-A6K0-01B-21D-A31L-08	484088	2983952	87370801	24	66707											
KCNG4	93107	broad.mit.edu	37	chr16	84255940	84255940	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacattcactggctggaccGgtgttttggaggtggcggag	6	11	16	8	2	2	0	2	0	0	0	2	3	2	3	1	7	0	2	1	7	0	3			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr16:84255940G>A	ENST00000308251.4	-	3	1511	c.1443C>T	c.(1441-1443)acC>acT	p.T481T		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	481						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGGCTGGACCGGTGTTTTGGA	0.587													4	164					0	0	0	0	A	84255940	G	A	84255940	2	1	355	1	0	0	0	0	0	0	0	1	8083	1103	39	1		1	KCNG4	16	84255940	Silent	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08	81271988	84255940	6098813	25	66708											
EVPL	2125	broad.mit.edu	37	chr17	74005011	74005011	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcttgctgcggtcctcctgGaagctgagcaggccctcctg	4	11	12	14	1	1	1	0	1	1	0	4	2	4	2	4	3	4	3	4	3	1	2			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr17:74005011G>A	ENST00000301607.3	-	22	4528	c.4275C>T	c.(4273-4275)ttC>ttT	p.F1425F	EVPL_ENST00000586740.1_Silent_p.F1447F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1425	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTCCTCCTGGAAGCTGAGCA	0.692													5	119					0	0	0	0	A	74005011	G	A	74005011	2	1	355	1	0	0	0	0	0	0	0	1	5330	1165	41	2		2	EVPL	17	74005011	Silent	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08		74005011	7190199	26	66709											
ZNF532	55205	broad.mit.edu	37	chr18	56586443	56586443	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagaagtaaatgacagtccGagagccgctgacaagtctcc	15	6	10	10	2	1	4	0	2	1	2	3	5	2	4	3	0	1	2	3	0	5	1			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr18:56586443G>A	ENST00000336078.4	+	4	1700	c.924G>A	c.(922-924)ccG>ccA	p.P308P	ZNF532_ENST00000591808.1_Silent_p.P308P|ZNF532_ENST00000591230.1_Silent_p.P308P|ZNF532_ENST00000591083.1_Silent_p.P308P|ZNF532_ENST00000589288.1_Silent_p.P308P	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ATGACAGTCCGAGAGCCGCTG	0.517													5	117					0	0	0	0	A	56586443	G	A	56586443	2	1	355	1	0	0	0	0	0	0	0	1	18067	1045	37	1		1	ZNF532	18	56586443	Silent	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08		56586443	21490805	27	66710											
ZNF532	55205	broad.mit.edu	37	chr18	56586604	56586604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagcaatccccaaagtccGcataaaaaccattaagacat	18	6	4	13	1	0	1	0	0	0	1	2	1	2	1	5	0	2	2	5	0	6	2			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr18:56586604G>A	ENST00000336078.4	+	4	1861	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	ZNF532_ENST00000591808.1_Missense_Mutation_p.R362H|ZNF532_ENST00000591230.1_Missense_Mutation_p.R362H|ZNF532_ENST00000591083.1_Missense_Mutation_p.R362H|ZNF532_ENST00000589288.1_Missense_Mutation_p.R362H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CCCAAAGTCCGCATAAAAACC	0.507													4	67					0	0	0	0	A	56586604	G	A	56586604	3	1	355	1	0	0	0	0	1	0	0	0	18067	1087	38	1	1087	1	ZNF532	18	56586604	Missense_Mutation	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08	161	56586604	21490644	28	66711											
SOCS6	9306	broad.mit.edu	37	chr18	67992202	67992202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccctctgggagctctgccGacgaggacaccttctcctcc	6	8	9	18	2	3	0	0	0	3	0	5	4	4	2	5	2	2	1	5	2	0	1			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr18:67992202G>A	ENST00000397942.3	+	2	614	c.298G>A	c.(298-300)Gac>Aac	p.D100N	SOCS6_ENST00000582322.1_Missense_Mutation_p.D100N	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	100					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GAGCTCTGCCGACGAGGACAC	0.552													4	72					0	0	0	0	A	67992202	G	A	67992202	3	1	355	1	0	0	0	0	1	0	0	0	15006	1058	37	1	300	1	SOCS6	18	67992202	Missense_Mutation	SNP	G	TCGA-CV-A6K0-01B-21D-A31L-08	11405598	67992202	10085046	29	66712											
PCIF1	63935	broad.mit.edu	37	chr20	44569514	44569514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagtatcccaggaaccccaAcgctgaagatgtggggtacg	11	6	12	12	2	0	2	0	1	0	1	1	3	1	3	4	3	3	3	4	3	5	2			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr20:44569514A>G	ENST00000372409.3	+	6	818	c.454A>G	c.(454-456)Acg>Gcg	p.T152A		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	152						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						AGGAACCCCAACGCTGAAGAT	0.562													11	99					0	0	0	0	G	44569514	A	G	44569514	3	3	355	1	0	0	0	0	1	0	0	0	11651	43	2	5	468	5	PCIF1	20	44569514	Missense_Mutation	SNP	A	TCGA-CV-A6K0-01B-21D-A31L-08		44569514	18456006	30	66713											
MAGEC1	9947	broad.mit.edu	37	chrX	140995349	140995349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcctgagtgggaggactCcctctctcctctccactttc	4	13	7	17	0	2	1	0	1	2	0	9	3	6	3	5	2	0	0	5	2	0	1			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chrX:140995349C>A	ENST00000285879.4	+	4	2445	c.2159C>A	c.(2158-2160)tCc>tAc	p.S720Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	720							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGAGGACTCCCTCTCTCCT	0.537										HNSCC(15;0.026)			7	77					0.0293803	0.0301535	1	0	A	140995349	C	A	140995349	3	1	355	1	0	0	0	0	1	0	0	0	9249	855	30	2	2165	2	MAGEC1	23	140995349	Missense_Mutation	SNP	C	TCGA-CV-A6K0-01B-21D-A31L-08		140995349	14275211	31	66714											
SAMD11	148398	broad.mit.edu	37	chr1	874667	874667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcagaggcgctgctgcTgccgcgggagctggggccca	5	4	17	15	3	0	1	0	0	0	1	0	2	0	2	3	4	5	5	3	4	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:874667T>C	ENST00000342066.3	+	7	616	c.533T>C	c.(532-534)cTg>cCg	p.L178P		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	178						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCGCTGCTGCTGCCGCGGGAG	0.692													7	12					0	0	0	0	C	874667	T	C	874667	3	2	356	1	0	0	0	0	1	0	0	0	13901	1580	55	5	555	5	SAMD11	1	874667	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08		874667	248375954	1	66715											
TTLL10	254173	broad.mit.edu	37	chr1	1118413	1118413	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttccgggggcctcaggcGcgggtggtgcagaggtgcgg	3	6	21	11	5	1	1	1	0	0	1	2	1	2	1	3	7	2	2	3	7	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:1118413G>A	ENST00000379290.1	+	11	1247	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	TTLL10_ENST00000379288.3_Silent_p.A285A|TTLL10_ENST00000379289.1_Silent_p.A358A			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	358	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGCCTCAGGCGCGGGTGGTGC	0.726													7	16					0	0	0	0	A	1118413	G	A	1118413	2	1	356	1	0	0	0	0	0	0	0	1	16819	1074	38	1		1	TTLL10	1	1118413	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	243746	1118413	248132208	2	66716											
GABRD	2563	broad.mit.edu	37	chr1	1957085	1957085	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctgcccgacaccttcatCgtgaacgccaagtcggcctg	7	8	11	15	4	1	1	1	1	0	0	3	2	1	1	4	2	2	1	4	2	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:1957085C>T	ENST00000378585.4	+	4	461	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	126						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		ACACCTTCATCGTGAACGCCA	0.632													35	93					0	0	0	0	T	1957085	C	T	1957085	2	4	356	1	0	0	0	0	0	0	0	1	6217	874	31	1		1	GABRD	1	1957085	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	838672	1957085	247293536	3	66717											
PRDM16	63976	broad.mit.edu	37	chr1	3328134	3328134	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacgccgggcggcatctttgCcccgggcctgcccttgaccc	3	7	12	19	4	1	1	0	1	1	0	1	1	1	1	6	3	2	1	6	3	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:3328134C>A	ENST00000378398.3	+	10	1458	c.1376C>A	c.(1375-1377)gCc>gAc	p.A459D	PRDM16_ENST00000378391.2_Missense_Mutation_p.A458D|PRDM16_ENST00000514189.1_Missense_Mutation_p.A459D|PRDM16_ENST00000511072.1_Missense_Mutation_p.A459D|PRDM16_ENST00000442529.2_Missense_Mutation_p.A458D|PRDM16_ENST00000441472.2_Missense_Mutation_p.A458D|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.A458D			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	458	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCATCTTTGCCCCGGGCCTG	0.617			T	EVI1	"MDS, AML"								29	97					1.88708e-17	2.24548e-17	1	0	A	3328134	C	A	3328134	3	1	356	1	0	0	0	0	1	0	0	0	12537	739	26	4	1407	4	PRDM16	1	3328134	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1371049	3328134	245922487	4	66718											
PIK3CD	5293	broad.mit.edu	37	chr1	9775659	9775659	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctcagtggccccgaggccTatgtgttcacctgcatcaac	7	10	10	14	1	3	0	3	0	0	0	3	1	3	0	4	2	3	3	4	2	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:9775659T>C	ENST00000536656.1	+	4	410	c.202T>C	c.(202-204)Tat>Cat	p.Y68H	PIK3CD_ENST00000377346.4_Missense_Mutation_p.Y68H|PIK3CD_ENST00000361110.2_Missense_Mutation_p.Y68H			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	68					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCGAGGCCTATGTGTTCAC	0.647													23	49					0	0	0	0	C	9775659	T	C	9775659	3	2	356	1	0	0	0	0	1	0	0	0	11987	1522	53	5	208	5	PIK3CD	1	9775659	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	6447525	9775659	239474962	5	66719											
KIF1B	23095	broad.mit.edu	37	chr1	10328246	10328246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacatgaatgaaacaagtagCcgttcccacgctgtgtttac	13	10	8	10	2	0	2	0	2	0	0	1	2	1	2	2	0	4	4	2	0	6	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:10328246C>T	ENST00000377086.1	+	7	847	c.645C>T	c.(643-645)agC>agT	p.S215S	KIF1B_ENST00000263934.6_Silent_p.S215S|KIF1B_ENST00000377093.4_Silent_p.S215S|KIF1B_ENST00000377081.1_Silent_p.S215S|KIF1B_ENST00000377083.1_Silent_p.S215S			O60333	KIF1B_HUMAN	kinesin family member 1B	215	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAACAAGTAGCCGTTCCCACG	0.433													10	16					0	0	0	0	T	10328246	C	T	10328246	2	4	356	1	0	0	0	0	0	0	0	1	8335	738	26	4		4	KIF1B	1	10328246	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	552587	10328246	238922375	6	66720											
PTCHD2	57540	broad.mit.edu	37	chr1	11562134	11562134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcatgggccaggacctggCggacatccggggtgagccgc	6	4	18	13	4	0	1	0	1	0	0	1	3	1	3	4	7	1	1	4	7	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:11562134C>T	ENST00000294484.6	+	2	1223	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A362V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	362					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGGACCTGGCGGACATCCGG	0.627													15	46					0	0	0	0	T	11562134	C	T	11562134	3	4	356	1	0	0	0	0	1	0	0	0	12812	768	27	1	1087	1	PTCHD2	1	11562134	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1233888	11562134	237688487	7	66721											
AGTRAP	57085	broad.mit.edu	37	chr1	11810281	11810281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgcccggccctgccccgGgccttcctcgtgcctgggag	1	7	14	19	4	0	0	0	0	0	0	2	1	1	1	7	3	3	0	7	3	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:11810281G>T	ENST00000510878.1	+	4	440	c.406G>T	c.(406-408)Ggc>Tgc	p.G136C	AGTRAP_ENST00000314340.5_3'UTR|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000376629.4_3'UTR|AGTRAP_ENST00000376637.3_3'UTR			Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	0						cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGCCCCGGGCCTTCCTCG	0.637													7	14					1.26484e-09	1.38681e-09	1	0	T	11810281	G	T	11810281	3	4	356	1	0	0	0	0	1	0	0	0	403	1247	43	4		4	AGTRAP	1	11810281	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	248147	11810281	237440340	8	66722											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12251047	12251047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcttctgtaccaagacctCggacaccgtgtgtgactcct	8	11	9	13	2	2	2	0	1	2	1	4	3	3	3	4	1	1	1	4	1	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:12251047C>T	ENST00000376259.3	+	3	301	c.212C>T	c.(211-213)tCg>tTg	p.S71L	TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.S71L|TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	71					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	ACCAAGACCTCGGACACCGTG	0.587													31	182					0	0	0	0	T	12251047	C	T	12251047	3	4	356	1	0	0	0	0	1	0	0	0	16388	893	31	1	222	1	TNFRSF1B	1	12251047	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	440766	12251047	236999574	9	66723											
VPS13D	55187	broad.mit.edu	37	chr1	12343295	12343295	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctcagtcttgcccctcAgtgtccaatgtggaatatcc	7	14	7	13	0	3	0	2	0	2	0	6	1	5	1	4	1	1	0	4	1	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:12343295A>G	ENST00000358136.3	+	21	5266	c.5136A>G	c.(5134-5136)tcA>tcG	p.S1712S	VPS13D_ENST00000356315.4_Silent_p.S1712S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1712					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTTGCCCCTCAGTGTCCAATG	0.463													27	71					0	0	0	0	G	12343295	A	G	12343295	2	3	356	1	0	0	0	0	0	0	0	1	17288	175	7	5		5	VPS13D	1	12343295	Silent	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	92248	12343295	236907326	10	66724											
PRDM2	7799	broad.mit.edu	37	chr1	14108321	14108321	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtggaaaaggtgtcgacaAtatgccggagttgcacaaac	13	8	13	7	2	0	0	0	0	0	0	1	3	0	2	1	3	3	2	1	3	5	2	rs149847070	by1000genomes	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:14108321A>C	ENST00000235372.7	+	8	4887	c.4031A>C	c.(4030-4032)aAt>aCt	p.N1344T	PRDM2_ENST00000343137.4_Missense_Mutation_p.N1143T|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.N1143T|PRDM2_ENST00000311066.5_Missense_Mutation_p.N1344T|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1344						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GGTGTCGACAATATGCCGGAG	0.448													45	111					0	0	0	0	C	14108321	A	C	14108321	3	2	356	1	0	0	0	0	1	0	0	0	12538	101	4	5	4057	5	PRDM2	1	14108321	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	1765026	14108321	235142300	11	66725											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17964479	17964479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcacgcttctcatcagcaCgctgcacggcacctaccagg	9	7	9	16	3	3	0	3	0	1	0	4	1	3	0	2	2	3	5	2	2	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:17964479C>T	ENST00000361221.3	+	19	2183	c.2024C>T	c.(2023-2025)aCg>aTg	p.T675M	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.T378M|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.T636M|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.T636M|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.T433M|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.T448M|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.T670M	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	675					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTCATCAGCACGCTGCACGGC	0.622													3	10					0	0	0	0	T	17964479	C	T	17964479	3	4	356	1	0	0	0	0	1	0	0	0	897	536	19	1	2094	1	ARHGEF10L	1	17964479	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3856158	17964479	231286142	12	66726											
ALPL	249	broad.mit.edu	37	chr1	21904050	21904050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcatcggggccaacctcgGccactgtgctcctgccagct	5	8	11	17	2	0	0	0	0	0	0	3	0	1	0	5	3	5	3	5	3	1	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:21904050G>T	ENST00000374840.3	+	12	1734	c.1484G>T	c.(1483-1485)gGc>gTc	p.G495V	ALPL_ENST00000540617.1_Missense_Mutation_p.G440V|ALPL_ENST00000539907.1_Missense_Mutation_p.G418V|ALPL_ENST00000425315.2_Missense_Mutation_p.G495V|ALPL_ENST00000374832.1_Missense_Mutation_p.G495V|ALPL_ENST00000374829.1_Missense_Mutation_p.G141V|ALPL_ENST00000374830.1_Missense_Mutation_p.G141V	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	495					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.G495D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GCCAACCTCGGCCACTGTGCT	0.687													18	28					1.50039e-11	1.67498e-11	1	0	T	21904050	G	T	21904050	3	4	356	1	0	0	0	0	1	0	0	0	547	1203	42	4	1526	4	ALPL	1	21904050	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	3939571	21904050	227346571	13	66727											
TMEM57	55219	broad.mit.edu	37	chr1	25824781	25824781	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttcagaaagatcaggaaAtcaaggacctaaaacagaag	19	6	8	8	0	3	3	3	0	0	3	4	5	4	5	2	2	1	0	2	2	6	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:25824781A>G	ENST00000374343.4	+	11	1998	c.1819A>G	c.(1819-1821)Atc>Gtc	p.I607V	TMEM57_ENST00000399763.3_Missense_Mutation_p.I249V|TMEM57_ENST00000399766.3_Missense_Mutation_p.I380V	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	607						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGATCAGGAAATCAAGGACCT	0.522													18	49					0	0	0	0	G	25824781	A	G	25824781	3	3	356	1	0	0	0	0	1	0	0	0	16278	101	4	5	1861	5	TMEM57	1	25824781	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	3920731	25824781	223425840	14	66728											
MATN1	4146	broad.mit.edu	37	chr1	31191679	31191679	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcggctcgctggcgatctgCcgcagcgtggccttgtccac	3	9	14	15	5	1	0	0	0	1	0	3	1	2	0	3	3	3	3	3	3	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:31191679C>T	ENST00000373765.4	-	3	602	c.567G>A	c.(565-567)cgG>cgA	p.R189R	MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	189	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGATCTGCCGCAGCGTGG	0.672													14	24					0	0	0	0	T	31191679	C	T	31191679	2	4	356	1	0	0	0	0	0	0	0	1	9402	726	26	4		4	MATN1	1	31191679	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	5366898	31191679	218058942	15	66729											
COL16A1	1307	broad.mit.edu	37	chr1	32137238	32137238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagggcctggaggacccgggGagcccctcatgccaggcgga	7	4	17	13	2	1	0	1	0	0	0	1	4	1	4	5	7	2	0	5	7	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:32137238G>A	ENST00000373672.3	-	48	3644	c.3128C>T	c.(3127-3129)tCc>tTc	p.S1043F	COL16A1_ENST00000271069.6_Missense_Mutation_p.S1043F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1043	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGACCCGGGGAGCCCCTCAT	0.607													15	29					0	0	0	0	A	32137238	G	A	32137238	3	1	356	1	0	0	0	0	1	0	0	0	3703	1174	41	2	1782	2	COL16A1	1	32137238	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	945559	32137238	217113383	16	66730											
BAI2	576	broad.mit.edu	37	chr1	32206079	32206079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtagctcctgcaggctgcGcaccacctgcgacatgccct	7	7	10	17	2	0	0	0	0	0	0	1	1	1	0	4	1	5	5	4	1	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:32206079G>A	ENST00000373658.3	-	12	2199	c.1858C>T	c.(1858-1860)Cgc>Tgc	p.R620C	BAI2_ENST00000398542.1_Missense_Mutation_p.R553C|BAI2_ENST00000398538.1_Missense_Mutation_p.R608C|BAI2_ENST00000398556.3_Missense_Mutation_p.R568C|BAI2_ENST00000373655.2_Missense_Mutation_p.R620C|BAI2_ENST00000257070.4_Missense_Mutation_p.R620C|BAI2_ENST00000440175.2_Missense_Mutation_p.R262C|BAI2_ENST00000527361.1_Missense_Mutation_p.R620C|BAI2_ENST00000398547.1_Missense_Mutation_p.R553C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	620					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGCAGGCTGCGCACCACCTGC	0.607													4	22					0	0	0	0	A	32206079	G	A	32206079	3	1	356	1	0	0	0	0	1	0	0	0	1303	1087	38	1	2987	1	BAI2	1	32206079	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	68841	32206079	217044542	17	66731											
DLGAP3	58512	broad.mit.edu	37	chr1	35370191	35370191	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatcactgtccaagttgTcatcggaactccaccagcct	9	10	7	15	2	2	0	2	0	0	0	5	1	4	1	4	1	2	2	4	1	3	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:35370191T>C	ENST00000373347.1	-	3	1062	c.794A>G	c.(793-795)gAc>gGc	p.D265G	DLGAP3_ENST00000235180.4_Missense_Mutation_p.D265G			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	265					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GTCCAAGTTGTCATCGGAACT	0.662													70	126					0	0	0	0	C	35370191	T	C	35370191	3	2	356	1	0	0	0	0	1	0	0	0	4598	1667	58	5	2185	5	DLGAP3	1	35370191	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	3164112	35370191	213880430	18	66732											
EPHA10	284656	broad.mit.edu	37	chr1	38188813	38188813	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccacagctctgggggtccagGaatgtgcgacgtgttgggac	7	8	16	10	2	1	0	0	0	1	0	2	3	2	2	2	4	2	2	2	4	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:38188813G>A	ENST00000373048.4	-	10	1859	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	EPHA10_ENST00000427468.2_Silent_p.F620F|EPHA10_ENST00000540011.1_Silent_p.F115F|EPHA10_ENST00000330210.7_Silent_p.F115F|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	620						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)				GGGGGTCCAGGAATGTGCGAC	0.597													21	51					0	0	0	0	A	38188813	G	A	38188813	2	1	356	1	0	0	0	0	0	0	0	1	5204	1165	41	2		2	EPHA10	1	38188813	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2818622	38188813	211061808	19	66733											
INPP5B	3633	broad.mit.edu	37	chr1	38353958	38353958	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggataccattgctcagccAcagccggaggcattctttgg	8	10	11	12	1	2	0	1	0	1	0	2	2	2	2	3	4	4	2	3	4	1	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:38353958A>C	ENST00000373023.2	-	10	1189	c.1096T>G	c.(1096-1098)Tgg>Ggg	p.W366G	INPP5B_ENST00000458109.2_Missense_Mutation_p.W49G|INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373027.1_Missense_Mutation_p.W122G|INPP5B_ENST00000373026.1_Missense_Mutation_p.W366G|INPP5B_ENST00000373024.3_Missense_Mutation_p.W286G	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	366					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGCTCAGCCACAGCCGGAGG	0.483													9	106					0	0	0	0	C	38353958	A	C	38353958	3	2	356	1	0	0	0	0	1	0	0	0	7808	159	6	5	1945	5	INPP5B	1	38353958	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	165145	38353958	210896663	20	66734											
HIVEP3	59269	broad.mit.edu	37	chr1	42047845	42047845	+	Frame_Shift_Del	DEL	G	G	-																															cagtcttctcaggttccttaGggggcggctctggctctgtg																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:42047845delG	ENST00000372584.1	-	3	3638	c.2624delC	c.(2623-2625)ctfs	p.P875fs	HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.P875fs|HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.P875fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.P875fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	875	Acidic 2.|Glu/Pro-rich.|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)				AGGTTCCTTAGGGGGCGGCTC	0.592													7	175	---	---	---	---					-	42047845	G	-	42047845	7	5	356	1	0	1	0	1	0	0	0	0	7238	1000	35	0	4620	0	HIVEP3	1	42047845	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	3693887	42047845	207202776	21	66735											
HIVEP3	59269	broad.mit.edu	37	chr1	42048868	42048868	+	Frame_Shift_Del	DEL	G	G	-																															ggcttctcaggagaggcacaGggggggcggtactgggcggg																								rs151333512		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:42048868delG	ENST00000372584.1	-	3	2615	c.1601delC	c.(1600-1602)ctfs	p.P534fs	HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.P534fs|HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.P534fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.P534fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	534	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)				GAGAGGCACAGGGGGGGCGGT	0.597													38	97	---	---	---	---					-	42048868	G	-	42048868	7	5	356	1	0	1	0	1	0	0	0	0	7238	1000	35	0	5643	0	HIVEP3	1	42048868	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	1023	42048868	207201753	22	66736											
IPO13	9670	broad.mit.edu	37	chr1	44422003	44422003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctaggtacgtgaacaCactcctgaaactcatcccgc	10	9	7	15	2	2	2	1	2	1	0	4	2	4	2	3	1	4	1	3	1	4	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:44422003C>A	ENST00000372343.3	+	3	1495	c.833C>A	c.(832-834)aCa>aAa	p.T278K	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	278					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TACGTGAACACACTCCTGAAA	0.532													10	20					2.68362e-12	3.02338e-12	1	0	A	44422003	C	A	44422003	3	1	356	1	0	0	0	0	1	0	0	0	7847	478	17	4	843	4	IPO13	1	44422003	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2373135	44422003	204828618	23	66737											
MAST2	23139	broad.mit.edu	37	chr1	46500302	46500302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggcccagctccctccacGgtctggcacccaagctccaa	8	5	8	20	2	1	0	0	0	1	0	4	0	4	0	5	3	2	3	5	3	2	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:46500302G>T	ENST00000361297.2	+	29	4244	c.3961G>T	c.(3961-3963)Ggt>Tgt	p.G1321C	MAST2_ENST00000372009.2_Intron|MAST2_ENST00000372008.1_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1321					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTCCCTCCACGGTCTGGCACC	0.657													40	95					8.16277e-20	9.86603e-20	1	0	T	46500302	G	T	46500302	3	4	356	1	0	0	0	0	1	0	0	0	9394	1116	39	3	4075	3	MAST2	1	46500302	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2078299	46500302	202750319	24	66738											
SLC1A7	6512	broad.mit.edu	37	chr1	53580430	53580430	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgggtggcaatagttacCggatgaggtccaacagggca	10	8	16	7	1	0	1	0	1	0	0	1	2	1	2	2	5	2	3	2	5	4	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:53580430C>T	ENST00000371494.4	-	3	558	c.431_splice	c.e3+1	p.R144_splice	SLC1A7_ENST00000371491.4_Splice_Site_p.R144_splice|RP11-334A14.8_ENST00000439621.1_RNA	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	144						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R144Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CAATAGTTACCGGATGAGGTC	0.657													17	32					0	0	0	0	T	53580430	C	T	53580430	5	4	356	1	0	0	0	0	0	0	1	0	14525	666	23	1	1287	1	SLC1A7	1	53580430	Splice_Site	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	7080128	53580430	195670191	25	66739											
DAB1	1600	broad.mit.edu	37	chr1	57480776	57480776	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgtttctttgcccattttCtgcctgggcttgtcggtctg	3	17	10	11	2	3	0	0	0	3	0	4	0	3	0	2	2	3	2	2	2	1	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:57480776C>T	ENST00000371236.2	-	12	1487	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	DAB1_ENST00000420954.2_Silent_p.Q406Q|DAB1_ENST00000414851.2_Silent_p.Q390Q|DAB1_ENST00000439789.2_Silent_p.Q322Q|DAB1_ENST00000371234.4_Silent_p.Q408Q|DAB1_ENST00000371231.1_Silent_p.Q441Q|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	441					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCCCATTTTCTGCCTGGGCT	0.617													32	56					0	0	0	0	T	57480776	C	T	57480776	2	4	356	1	0	0	0	0	0	0	0	1	4250	912	32	2		2	DAB1	1	57480776	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3900346	57480776	191769845	26	66740											
LRRC40	55631	broad.mit.edu	37	chr1	70641656	70641656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaatctggttttcacctaCgtgcaattcctacaaaatca	12	14	4	11	1	4	0	3	0	1	0	5	0	5	0	2	1	3	2	2	1	6	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:70641656C>T	ENST00000370952.3	-	7	893	c.814G>A	c.(814-816)Gta>Ata	p.V272I		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	272								p.V272I(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TTTTCACCTACGTGCAATTCC	0.313													22	39					0	0	0	0	T	70641656	C	T	70641656	3	4	356	1	0	0	0	0	1	0	0	0	9062	536	19	1	1030	1	LRRC40	1	70641656	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	13160880	70641656	178608965	27	66741											
TMED5	50999	broad.mit.edu	37	chr1	93645724	93645724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagggaaggtgtgaagccggCcgccccaggcagcagcaccg	9	2	17	13	3	0	1	0	1	0	0	0	3	0	2	5	4	3	3	5	4	2	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:93645724C>T	ENST00000370282.3	-	1	561	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	CCDC18_ENST00000343253.7_5'UTR|TMED5_ENST00000370280.1_Missense_Mutation_p.A26T|TMED5_ENST00000479918.1_Missense_Mutation_p.A26T	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	26					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		GTGAAGCCGGCCGCCCCAGGC	0.667													33	76					0	0	0	0	T	93645724	C	T	93645724	3	4	356	1	0	0	0	0	1	0	0	0	16101	739	26	4	682	4	TMED5	1	93645724	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	23004068	93645724	155604897	28	66742											
ARHGAP29	9411	broad.mit.edu	37	chr1	94650429	94650429	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaagagttataatgtaccTgtagacacaaagctctattt	14	15	6	6	0	1	2	0	0	1	2	1	2	1	2	1	0	2	4	1	0	7	8			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:94650429T>C	ENST00000260526.6	-	18	2290	c.2109_splice	c.e18+1	p.Q703_splice	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	703	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATAATGTACCTGTAGACACAA	0.333													11	29					0	0	0	0	C	94650429	T	C	94650429	5	2	356	1	0	0	0	0	0	0	1	0	880	1594	55	5	1701	5	ARHGAP29	1	94650429	Splice_Site	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	1004705	94650429	154600192	29	66743											
EXTL2	2135	broad.mit.edu	37	chr1	101339656	101339656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccacattccagaatagcCactgttggtttctttttcca	9	15	6	11	0	1	1	0	0	1	1	3	1	3	1	4	1	2	2	4	1	2	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:101339656C>A	ENST00000370114.3	-	5	2271	c.835G>T	c.(835-837)Ggc>Tgc	p.G279C	EXTL2_ENST00000370113.3_Missense_Mutation_p.G279C|EXTL2_ENST00000535414.1_Missense_Mutation_p.G266C	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	279					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		CCAGAATAGCCACTGTTGGTT	0.388													13	34					0.00010058	0.000103618	1	0	A	101339656	C	A	101339656	3	1	356	1	0	0	0	0	1	0	0	0	5364	594	21	4	161	4	EXTL2	1	101339656	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	6689227	101339656	147910965	30	66744											
PRPF38B	55119	broad.mit.edu	37	chr1	109235395	109235396	+	Frame_Shift_Del	DEL	TG	TG	-																															gaccatgaacctcaaccccaTgatcctgaccaacatcctgt																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:109235395_109235396delTG	ENST00000370025.4	+	1	451_452	c.182_183delTG	c.(181-183)afs	p.M61fs	PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370021.1_5'UTR|PRPF38B_ENST00000370022.5_Frame_Shift_Del_p.M61fs	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	61					mRNA processing|RNA splicing	spliceosomal complex		p.M61I(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		CTCAACCCCATGATCCTGACCA	0.584													35	103	---	---	---	---					-	109235396	TG	-	109235395	7	5	356	1	0	1	0	1	0	0	0	0	12648	1464	51	0	184	0	PRPF38B	1	109235395	Frame_Shift_Del	DEL	TG	TCGA-CV-A6K1-01A-11D-A31L-08	7895739	109235395	140015226	31	66745											
ATXN7L2	127002	broad.mit.edu	37	chr1	110033787	110033787	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagccaggctatcacctcAccactgcctgccaacacgcc	9	5	9	18	1	2	0	2	0	0	0	2	1	2	1	6	2	4	1	6	2	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:110033787A>G	ENST00000369870.3	+	10	1617	c.1602A>G	c.(1600-1602)tcA>tcG	p.S534S	ATXN7L2_ENST00000459635.1_3'UTR	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	534										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTATCACCTCACCACTGCCTG	0.657											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	31					0	0	0	0	G	110033787	A	G	110033787	2	3	356	1	0	0	0	0	0	0	0	1	1221	146	6	5		5	ATXN7L2	1	110033787	Silent	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	798392	110033787	139216834	32	66746											
AP4B1	10717	broad.mit.edu	37	chr1	114437899	114437899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacccagccctactcattgCgatggtctggatgttcacta	9	11	9	12	1	3	1	2	0	1	1	3	3	3	2	2	2	3	1	2	2	2	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:114437899C>T	ENST00000369569.1	-	10	2288	c.2008G>A	c.(2008-2010)Gca>Aca	p.A670T	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Missense_Mutation_p.A502T|AP4B1_ENST00000256658.4_Missense_Mutation_p.A670T	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	670					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTACTCATTGCGATGGTCTGG	0.502													34	51					0	0	0	0	T	114437899	C	T	114437899	3	4	356	1	0	0	0	0	1	0	0	0	752	768	27	1	215	1	AP4B1	1	114437899	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	4404112	114437899	134812722	33	66747											
TTF2	8458	broad.mit.edu	37	chr1	117618156	117618156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatttccaagagcggcCggagacccacagtgtgcctg	8	6	15	12	2	0	2	0	0	0	2	1	3	1	2	4	4	2	1	4	4	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:117618156C>T	ENST00000369466.3	+	5	994	c.950C>T	c.(949-951)cCg>cTg	p.P317L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	317					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CAAGAGCGGCCGGAGACCCAC	0.612													14	27					0	0	0	0	T	117618156	C	T	117618156	3	4	356	1	0	0	0	0	1	0	0	0	16815	652	23	1	968	1	TTF2	1	117618156	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3180257	117618156	131632465	34	66748											
FMO5	2330	broad.mit.edu	37	chr1	146696488	146696488	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactaggagatgtatgtaccTggaacctccagagccctccg	10	8	11	12	1	0	2	0	0	0	2	2	5	2	3	5	2	3	2	5	2	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:146696488T>C	ENST00000254090.4	-	2	522	c.135_splice	c.e2+1	p.Q45_splice	FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000441068.2_Splice_Site_p.Q45_splice|FMO5_ENST00000369272.3_Splice_Site_p.Q45_splice	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	45						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TGTATGTACCTGGAACCTCCA	0.522													28	74					0	0	0	0	C	146696488	T	C	146696488	5	2	356	1	0	0	0	0	0	0	1	0	6003	1594	55	5	1642	5	FMO5	1	146696488	Splice_Site	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	29078332	146696488	102554133	35	66749											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858798	149858798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctggccatccgcaacgacGaggaactgaacaagctgctg	12	5	12	12	3	0	1	0	1	0	0	1	4	1	2	2	2	6	4	2	2	4	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:149858798G>A	ENST00000331380.2	+	1	274	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	92					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCGCAACGACGAGGAACTGAA	0.597													37	73					0	0	0	0	A	149858798	G	A	149858798	3	1	356	1	0	0	0	0	1	0	0	0	7228	1059	37	1	276	1	HIST2H2AC	1	149858798	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	3162310	149858798	99391823	36	66750											
MTMR11	10903	broad.mit.edu	37	chr1	149901586	149901586	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcccagatacccaggcaGcagcagccctggaggtaaag	11	4	14	12	0	0	1	0	0	0	1	1	2	1	2	3	4	4	4	3	4	3	2	rs146993077		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:149901586G>A	ENST00000439741.2	-	16	2120	c.1870C>T	c.(1870-1872)Ctg>Ttg	p.L624L	MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000369140.3_Silent_p.L552L|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	624	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TACCCAGGCAGCAGCAGCCCT	0.597													60	106					0	0	0	0	A	149901586	G	A	149901586	2	1	356	1	0	0	0	0	0	0	0	1	10010	962	34	4		4	MTMR11	1	149901586	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	42788	149901586	99349035	37	66751											
APH1A	51107	broad.mit.edu	37	chr1	150241169	150241169	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagcgcgaaggccgggccGaacgcgacgaaagtgcagcc	13	1	15	12	7	0	0	0	0	0	0	0	4	0	0	3	2	4	1	3	2	5	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:150241169G>A	ENST00000360244.4	-	1	534	c.42C>T	c.(40-42)ttC>ttT	p.F14F	APH1A_ENST00000414276.2_Silent_p.F14F|APH1A_ENST00000369109.3_Silent_p.F14F|APH1A_ENST00000461320.1_5'UTR|C1orf54_ENST00000369102.1_5'UTR	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	14					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGCCGGGCCGAACGCGACGA	0.662													6	20					0	0	0	0	A	150241169	G	A	150241169	2	1	356	1	0	0	0	0	0	0	0	1	772	1049	37	1		1	APH1A	1	150241169	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	339583	150241169	99009452	38	66752											
RPRD2	23248	broad.mit.edu	37	chr1	150443199	150443199	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattcccaaaagcttcaactAttctcctaactcatcaactt	13	14	1	13	0	4	0	3	0	1	0	6	0	5	0	2	0	4	1	2	0	7	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:150443199A>G	ENST00000401000.4	+	10	1762	c.1697A>G	c.(1696-1698)tAt>tGt	p.Y566C	RPRD2_ENST00000369068.4_Missense_Mutation_p.Y592C|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.Y566C			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	592	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGCTTCAACTATTCTCCTAAC	0.483													13	28					0	0	0	0	G	150443199	A	G	150443199	3	3	356	1	0	0	0	0	1	0	0	0	13702	449	16	5	1817	5	RPRD2	1	150443199	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	202030	150443199	98807422	39	66753											
FLG2	388698	broad.mit.edu	37	chr1	152326153	152326153	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagatccagcttggctgTgagtttgttcttgtgagtgt	5	17	14	5	0	1	3	0	3	1	1	2	4	2	3	1	1	1	5	1	1	0	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:152326153T>A	ENST00000388718.5	-	3	4181	c.4109A>T	c.(4108-4110)cAc>cTc	p.H1370L	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1370							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTTGGCTGTGAGTTTGTTC	0.488													8	156					0	0	0	0	A	152326153	T	A	152326153	3	1	356	1	0	0	0	0	1	0	0	0	5968	1696	59	5	3070	5	FLG2	1	152326153	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	1882954	152326153	96924468	40	66754											
DENND4B	9909	broad.mit.edu	37	chr1	153912155	153912155	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacccggtagcccttgagcaGacaggccatgaagcggagga	11	4	15	11	2	0	3	0	2	0	1	0	6	0	5	3	4	3	2	3	4	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:153912155G>C	ENST00000361217.4	-	12	2147	c.1729C>G	c.(1729-1731)Ctg>Gtg	p.L577V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	577	dDENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCCTTGAGCAGACAGGCCATG	0.622													57	124					0	0	0	0	C	153912155	G	C	153912155	3	2	356	1	0	0	0	0	1	0	0	0	4471	933	33	2	2829	2	DENND4B	1	153912155	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1586002	153912155	95338466	41	66755											
UBAP2L	9898	broad.mit.edu	37	chr1	154197682	154197682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagacacagcacaagcagcGgccacaggtaaataatccaa	17	3	8	13	1	0	1	0	0	0	1	1	1	1	1	3	2	3	3	3	2	5	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:154197682G>A	ENST00000428931.1	+	2	250	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	UBAP2L_ENST00000343815.6_Missense_Mutation_p.R28Q|UBAP2L_ENST00000361546.2_Missense_Mutation_p.R28Q|UBAP2L_ENST00000271877.7_Missense_Mutation_p.R28Q	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	28					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACAAGCAGCGGCCACAGGTA	0.463													18	43					0	0	0	0	A	154197682	G	A	154197682	3	1	356	1	0	0	0	0	1	0	0	0	16934	1116	39	1	85	1	UBAP2L	1	154197682	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	285527	154197682	95052939	42	66756											
ASH1L	55870	broad.mit.edu	37	chr1	155385595	155385595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacttcttctttgggggaCgtgggggcttcttttccctt	3	17	12	9	1	3	0	0	0	3	0	4	2	4	1	1	4	1	1	1	4	1	8			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:155385595C>T	ENST00000368346.3	-	6	6587	c.5948G>A	c.(5947-5949)cGt>cAt	p.R1983H	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1983H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1983					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTTGGGGGACGTGGGGGCTT	0.453													55	152					0	0	0	0	T	155385595	C	T	155385595	3	4	356	1	0	0	0	0	1	0	0	0	1045	536	19	1	3038	1	ASH1L	1	155385595	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1187913	155385595	93865026	43	66757											
GON4L	54856	broad.mit.edu	37	chr1	155783569	155783569	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcagcactgatgtgcctGatggctggtgtggtgacttt	6	13	13	9	0	1	3	1	3	0	0	1	3	1	3	2	3	2	2	2	3	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:155783569G>A	ENST00000437809.1	-	10	1430	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	GON4L_ENST00000271883.5_Silent_p.I436I|GON4L_ENST00000368331.1_Silent_p.I436I|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.I436I			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	436					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.I436I(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGATGTGCCTGATGGCTGGTG	0.473													16	32					0	0	0	0	A	155783569	G	A	155783569	2	1	356	1	0	0	0	0	0	0	0	1	6620	1280	45	2		2	GON4L	1	155783569	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	397974	155783569	93467052	44	66758											
GON4L	54856	broad.mit.edu	37	chr1	155796641	155796641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctacccattggaatgaaGagtccaccatcttctatctc	11	11	6	13	0	3	2	0	1	3	1	5	3	4	3	4	1	2	0	4	1	4	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:155796641G>A	ENST00000437809.1	-	3	806	c.684C>T	c.(682-684)ctC>ctT	p.L228L	GON4L_ENST00000271883.5_Silent_p.L228L|GON4L_ENST00000368331.1_Silent_p.L228L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.L228L			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	228					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGGAATGAAGAGTCCACCAT	0.398													23	56					0	0	0	0	A	155796641	G	A	155796641	2	1	356	1	0	0	0	0	0	0	0	1	6620	929	33	2		2	GON4L	1	155796641	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	13072	155796641	93453980	45	66759											
MRPL24	79590	broad.mit.edu	37	chr1	156708372	156708372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttccacaaccactgggCgccgcctgatccatgggggg	6	7	15	13	2	0	1	0	1	0	0	2	1	2	1	5	5	1	1	5	5	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:156708372C>T	ENST00000361531.2	-	2	261	c.125G>A	c.(124-126)cGc>cAc	p.R42H	MRPL24_ENST00000368211.4_Missense_Mutation_p.R42H			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	42	Poly-Arg.				translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AACCACTGGGCGCCGCCTGAT	0.582													31	74					0	0	0	0	T	156708372	C	T	156708372	3	4	356	1	0	0	0	0	1	0	0	0	9860	768	27	1	545	1	MRPL24	1	156708372	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	911731	156708372	92542249	46	66760											
SH2D2A	9047	broad.mit.edu	37	chr1	156777036	156777036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacctgtctagaaagattGtgggggagggtgtgtctcca	9	10	15	7	0	2	2	0	0	2	2	3	3	2	3	2	3	1	1	2	3	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:156777036G>A	ENST00000392306.2	-	8	1273	c.1134C>T	c.(1132-1134)caC>caT	p.H378H	SH2D2A_ENST00000368199.3_Silent_p.H368H|SH2D2A_ENST00000368198.3_Silent_p.H350H	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	368	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAGAAAGATTGTGGGGGAGGG	0.592													23	49					0	0	0	0	A	156777036	G	A	156777036	2	1	356	1	0	0	0	0	0	0	0	1	14319	1368	48	4		4	SH2D2A	1	156777036	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	68664	156777036	92473585	47	66761											
CASQ1	844	broad.mit.edu	37	chr1	160160588	160160588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagctgtgccgggtctgcGgctggcactgctgttgctgc	3	10	16	12	2	1	1	0	0	1	1	1	1	1	1	1	3	6	6	1	3	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:160160588G>A	ENST00000368079.3	+	1	304	c.29G>A	c.(28-30)cGg>cAg	p.R10Q	CASQ1_ENST00000368078.3_Missense_Mutation_p.R16Q	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	16						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGGGTCTGCGGCTGGCACTG	0.617													7	56					0	0	0	0	A	160160588	G	A	160160588	3	1	356	1	0	0	0	0	1	0	0	0	2705	1116	39	1	49	1	CASQ1	1	160160588	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	3383552	160160588	89090033	48	66762											
NDUFS2	4720	broad.mit.edu	37	chr1	161173235	161173235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgactccccagaggtgttcGgcagtggcagccagatgtgg	7	9	15	10	1	0	3	0	1	0	2	2	3	1	3	3	4	1	3	3	4	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:161173235G>A	ENST00000392179.4	+	2	343	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	NDUFS2_ENST00000367993.3_Missense_Mutation_p.R35Q|NDUFS2_ENST00000476409.2_Intron	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	35					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	AGAGGTGTTCGGCAGTGGCAG	0.537													16	27					0	0	0	0	A	161173235	G	A	161173235	3	1	356	1	0	0	0	0	1	0	0	0	10362	1116	39	1	110	1	NDUFS2	1	161173235	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1012647	161173235	88077386	49	66763											
DUSP27	92235	broad.mit.edu	37	chr1	167096818	167096818	+	Frame_Shift_Del	DEL	G	G	-																															aagttgcagaagcaaagtgaGggggaccagcaagcccatct																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:167096818delG	ENST00000361200.2	+	6	2616	c.2450delG	c.(2449-2451)agfs	p.R817fs	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Frame_Shift_Del_p.R817fs|DUSP27_ENST00000443333.1_Frame_Shift_Del_p.R817fs			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	817					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCAAAGTGAGGGGGACCAGC	0.552													18	74	---	---	---	---					-	167096818	G	-	167096818	7	5	356	1	0	1	0	1	0	0	0	0	4860	1000	35	0	2468	0	DUSP27	1	167096818	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	5923583	167096818	82153803	50	66764											
SELP	6403	broad.mit.edu	37	chr1	169581488	169581488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctggggctgtccatacccCcgaggctgtgcattgcacca	6	8	13	14	1	0	0	0	0	0	0	1	1	1	0	4	4	3	5	4	4	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:169581488C>T	ENST00000263686.6	-	6	965	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	SELP_ENST00000367793.2_Intron|SELP_ENST00000367791.2_Missense_Mutation_p.G310R|SELP_ENST00000367788.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.G310R|SELP_ENST00000367794.2_Missense_Mutation_p.G310R|SELP_ENST00000367792.2_Missense_Mutation_p.G310R|SELP_ENST00000367786.2_Missense_Mutation_p.G310R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	310	Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTCCATACCCCCGAGGCTGTG	0.488													39	71					0	0	0	0	T	169581488	C	T	169581488	3	4	356	1	0	0	0	0	1	0	0	0	14106	623	22	4	1608	4	SELP	1	169581488	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2484670	169581488	79669133	51	66765											
FMO1	2326	broad.mit.edu	37	chr1	171254589	171254589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcaaggtcatcaaagctcGagttgtacaagagtctccat	13	11	8	9	1	4	1	3	0	1	1	6	2	4	1	1	1	2	3	1	1	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:171254589G>A	ENST00000354841.4	+	8	1636	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q	FMO1_ENST00000402921.2_Missense_Mutation_p.R439Q|FMO1_ENST00000367750.3_Missense_Mutation_p.R502Q|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	502					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.R502Q(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCAAAGCTCGAGTTGTACAA	0.433													18	27					0	0	0	0	A	171254589	G	A	171254589	3	1	356	1	0	0	0	0	1	0	0	0	5999	1058	37	1	1535	1	FMO1	1	171254589	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1673101	171254589	77996032	52	66766											
MYOC	4653	broad.mit.edu	37	chr1	171621570	171621570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctggctctgctctgggCagctggattcattgggactg	4	12	15	10	0	3	0	1	0	2	0	3	2	3	2	1	5	2	4	1	5	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:171621570C>A	ENST00000037502.5	-	1	241	c.182G>T	c.(181-183)tGc>tTc	p.C61F		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	61					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGCTCTGGGCAGCTGGATTC	0.577													25	48					7.87624e-14	8.98887e-14	1	0	A	171621570	C	A	171621570	3	1	356	1	0	0	0	0	1	0	0	0	10156	710	25	4	1344	4	MYOC	1	171621570	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	366981	171621570	77629051	53	66767											
CACNA1E	777	broad.mit.edu	37	chr1	181764067	181764067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggataagcgttcaaattcctCgtggttggaggaattctcca	10	12	11	8	2	2	0	1	0	1	0	5	3	3	3	2	4	1	2	2	4	3	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:181764067C>T	ENST00000526775.1	+	44	6074	c.5909C>T	c.(5908-5910)tCg>tTg	p.S1970L	CACNA1E_ENST00000357570.5_Missense_Mutation_p.S1983L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1596L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S1921L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S1989L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2032L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2013L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2032					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.S1989L(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCAAATTCCTCGTGGTTGGAG	0.527													16	42					0	0	0	0	T	181764067	C	T	181764067	3	4	356	1	0	0	0	0	1	0	0	0	2567	893	31	1	6144	1	CACNA1E	1	181764067	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	10142497	181764067	67486554	54	66768											
SMG7	9887	broad.mit.edu	37	chr1	183518987	183518987	+	Frame_Shift_Del	DEL	C	C	-																															agaactcagtccctcaatggCcccccaggaaacatctctgt																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:183518987delC	ENST00000367537.3	+	21	3206	c.3011delC	c.(3010-3012)gcfs	p.A1004fs	SMG7_ENST00000347615.2_Frame_Shift_Del_p.A971fs|SMG7_ENST00000507469.1_Frame_Shift_Del_p.A975fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.A883fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.A979fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.A925fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	971	Ser-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCCTCAATGGCCCCCCAGGAA	0.428													26	72	---	---	---	---					-	183518987	C	-	183518987	7	5	356	1	0	1	0	1	0	0	0	0	14886	739	26	0	3140	0	SMG7	1	183518987	Frame_Shift_Del	DEL	C	TCGA-CV-A6K1-01A-11D-A31L-08	1754920	183518987	65731634	55	66769											
FAM129A	116496	broad.mit.edu	37	chr1	184787912	184787912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggatggatgccaggaatgGctgcacactctccaagcagc	11	6	12	12	0	1	0	0	0	1	0	2	3	1	3	2	4	4	3	2	4	2	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:184787912G>T	ENST00000367511.3	-	9	1226	c.1033C>A	c.(1033-1035)Cca>Aca	p.P345T	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	345					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCCAGGAATGGCTGCACACTC	0.522													28	222					7.68411e-24	9.3985e-24	1	0	T	184787912	G	T	184787912	3	4	356	1	0	0	0	0	1	0	0	0	5477	1203	42	4	1777	4	FAM129A	1	184787912	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1268925	184787912	64462709	56	66770											
ASPM	259266	broad.mit.edu	37	chr1	197065192	197065192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcttttaatatagctaGatattctttgtgtgctctcc	10	17	6	8	0	2	1	0	0	2	1	3	1	2	1	1	0	4	3	1	0	6	8			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:197065192G>T	ENST00000367409.4	-	19	9179	c.8923C>A	c.(8923-8925)Cta>Ata	p.L2975I	ASPM_ENST00000367408.1_Missense_Mutation_p.L640I|ASPM_ENST00000294732.7_Missense_Mutation_p.L1390I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2975	IQ 35.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATATAGCTAGATATTCTTTG	0.353													39	108					5.43694e-19	6.5585e-19	1	0	T	197065192	G	T	197065192	3	4	356	1	0	0	0	0	1	0	0	0	1060	933	33	2	1550	2	ASPM	1	197065192	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	12277280	197065192	52185429	57	66771											
C1orf106	55765	broad.mit.edu	37	chr1	200881099	200881099	+	Frame_Shift_Del	DEL	G	G	-																															gaaggacagcccggcaggccGggggctcagcaaggccgccg																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:200881099delG	ENST00000367342.4	+	9	1933	c.1733delG	c.(1732-1734)cgfs	p.R578fs	C1orf106_ENST00000465162.1_3'UTR|C1orf106_ENST00000413687.2_Frame_Shift_Del_p.R493fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	578										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCGGCAGGCCGGGGGCTCAGC	0.716													2	4	---	---	---	---					-	200881099	G	-	200881099	7	5	356	1	0	1	0	1	0	0	0	0	1999	1116	39	0	1767	0	C1orf106	1	200881099	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	3815907	200881099	48369522	58	66772											
ATP2B4	493	broad.mit.edu	37	chr1	203708958	203708958	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccagtcggacagctctctAcagagcctagagacatcagt	11	7	9	14	1	2	2	1	0	1	2	4	4	2	3	3	1	3	1	3	1	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:203708958A>G	ENST00000357681.5	+	21	4717	c.3594A>G	c.(3592-3594)ctA>ctG	p.L1198L	ATP2B4_ENST00000391954.2_3'UTR|ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000367219.3_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1234					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACAGCTCTCTACAGAGCCTAG	0.468													13	47					0	0	0	0	G	203708958	A	G	203708958	2	3	356	1	0	0	0	0	0	0	0	1	1146	378	14	5		5	ATP2B4	1	203708958	Silent	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	2827859	203708958	45541663	59	66773											
PLXNA2	5362	broad.mit.edu	37	chr1	208391083	208391083	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgatggcccccacatagAcggcccccgtcccttggtgg	5	8	13	15	2	0	2	0	1	0	1	1	2	1	2	5	5	0	1	5	5	1	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:208391083A>G	ENST00000367033.3	-	2	942	c.185T>C	c.(184-186)gTc>gCc	p.V62A		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	62	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCCCACATAGACGGCCCCCGT	0.582													45	95					0	0	0	0	G	208391083	A	G	208391083	3	3	356	1	0	0	0	0	1	0	0	0	12192	275	10	5	5623	5	PLXNA2	1	208391083	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	4682125	208391083	40859538	60	66774											
FAM71A	149647	broad.mit.edu	37	chr1	212798649	212798649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagctgcgcctgaagttcGccactggcagatcttgctat	9	10	10	12	2	1	2	0	1	1	1	2	2	1	2	2	1	4	4	2	1	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:212798649G>A	ENST00000294829.3	+	1	861	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	144										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CCTGAAGTTCGCCACTGGCAG	0.507													39	111					0	0	0	0	A	212798649	G	A	212798649	3	1	356	1	0	0	0	0	1	0	0	0	5653	1087	38	1	432	1	FAM71A	1	212798649	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	4407566	212798649	36451972	61	66775											
KCTD3	51133	broad.mit.edu	37	chr1	215793922	215793922	+	Frame_Shift_Del	DEL	A	A	-																															ctactccatctcctcggcatAaaaaaagtgattcttcaggt																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:215793922delA	ENST00000259154.4	+	18	2704	c.2410delA	c.(2410-2412)aafs	p.K805fs	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	805						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TCCTCGGCATAAAAAAAGTGA	0.418													32	60	---	---	---	---					-	215793922	A	-	215793922	7	5	356	1	0	1	0	1	0	0	0	0	8163	363	13	0	2480	0	KCTD3	1	215793922	Frame_Shift_Del	DEL	A	TCGA-CV-A6K1-01A-11D-A31L-08	2995273	215793922	33456699	62	66776											
CNIH3	149111	broad.mit.edu	37	chr1	224804897	224804897	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggccttcactttcgctgcGttctgctacatgctgtctct	4	16	8	13	2	3	0	1	0	2	0	5	0	3	0	1	1	4	4	1	1	1	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:224804897G>A	ENST00000272133.3	+	1	903	c.21G>A	c.(19-21)gcG>gcA	p.A7A		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	7					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CTTTCGCTGCGTTCTGCTACA	0.597													133	304					0	0	0	0	A	224804897	G	A	224804897	2	1	356	1	0	0	0	0	0	0	0	1	3634	1132	40	1		1	CNIH3	1	224804897	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	9010975	224804897	24445724	63	66777											
PCNXL2	80003	broad.mit.edu	37	chr1	233313604	233313604	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgactctgccagattttGatgtaaaaatttaggaaaca	15	12	8	6	0	1	3	0	2	1	1	1	4	1	4	1	1	3	2	1	1	5	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:233313604G>C	ENST00000258229.8	-	17	3451	c.3217C>G	c.(3217-3219)Caa>Gaa	p.Q1073E	PCNXL2_ENST00000488780.2_Missense_Mutation_p.Q206E	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1073						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCCAGATTTTGATGTAAAAAT	0.433													23	34					0	0	0	0	C	233313604	G	C	233313604	3	2	356	1	0	0	0	0	1	0	0	0	11663	1299	45	2	3268	2	PCNXL2	1	233313604	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	8508707	233313604	15937017	64	66778											
ACTN2	88	broad.mit.edu	37	chr1	236906324	236906324	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggcagaaggcctcaacGcacgagacttgggcttatgg	10	8	13	10	2	2	2	2	0	0	2	2	3	2	2	1	4	1	3	1	4	3	3	rs143566058		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:236906324G>A	ENST00000366578.4	+	11	1402	c.1236G>A	c.(1234-1236)acG>acA	p.T412T	ACTN2_ENST00000542672.1_Silent_p.T412T|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	412					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.T412T(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGGCCTCAACGCACGAGACTT	0.502													20	52					0	0	0	0	A	236906324	G	A	236906324	2	1	356	1	0	0	0	0	0	0	0	1	205	1074	38	1		1	ACTN2	1	236906324	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	3592720	236906324	12344297	65	66779											
KIF26B	55083	broad.mit.edu	37	chr1	245848957	245848957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccccccagactttgtccCtatcgtgccagccctgcaga	6	8	10	17	1	0	2	0	0	0	2	2	2	1	2	6	1	3	1	6	1	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:245848957C>A	ENST00000366518.4	+	9	1633	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H	KIF26B_ENST00000407071.2_Missense_Mutation_p.P891H			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	891	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GACTTTGTCCCTATCGTGCCA	0.652													8	32					0.0477658	0.0483166	1	0	A	245848957	C	A	245848957	3	1	356	1	0	0	0	0	1	0	0	0	8346	681	24	4	2718	4	KIF26B	1	245848957	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	8942633	245848957	3401664	66	66780											
SCCPDH	51097	broad.mit.edu	37	chr1	246929383	246929383	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctatgtggctacccccAtagctatggttcaggcagcc	7	10	11	13	0	1	0	1	0	0	0	1	0	1	0	3	4	3	5	3	4	4	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:246929383A>G	ENST00000366510.3	+	11	1502	c.1126A>G	c.(1126-1128)Ata>Gta	p.I376V		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	376						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GGCTACCCCCATAGCTATGGT	0.403													45	97					0	0	0	0	G	246929383	A	G	246929383	3	3	356	1	0	0	0	0	1	0	0	0	13971	217	8	5	1168	5	SCCPDH	1	246929383	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	1080426	246929383	2321238	67	66781											
OR1C1	26188	broad.mit.edu	37	chr1	247920946	247920946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaatagacggcgatggCtgtgccgtaaaacaacacca	14	6	11	10	3	0	2	0	1	0	1	0	3	0	2	2	2	3	3	2	2	5	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:247920946C>A	ENST00000408896.2	-	1	1036	c.763G>T	c.(763-765)Gcc>Tcc	p.A255S		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A255S(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACGGCGATGGCTGTGCCGTAA	0.522													14	32					0.000219431	0.000224551	1	0	A	247920946	C	A	247920946	3	1	356	1	0	0	0	0	1	0	0	0	11023	797	28	4	183	4	OR1C1	1	247920946	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	991563	247920946	1329675	68	66782											
KLF11	8462	broad.mit.edu	37	chr2	10188573	10188573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taccaagttgttgccccttgCccctgctccagtgttcatca	6	13	7	15	0	2	0	2	0	0	0	3	0	3	0	6	0	4	4	6	0	2	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:10188573C>T	ENST00000535335.1	+	3	1274	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	KLF11_ENST00000540845.1_Missense_Mutation_p.A353V|KLF11_ENST00000305883.1_Missense_Mutation_p.A370V	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	370					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TTGCCCCTTGCCCCTGCTCCA	0.587											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	93					0	0	0	0	T	10188573	C	T	10188573	3	4	356	1	0	0	0	0	1	0	0	0	8391	739	26	4	1119	4	KLF11	2	10188573	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08		10188573	233010800	69	66783											
ROCK2	9475	broad.mit.edu	37	chr2	11332360	11332360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagttctaggagatgatcgGgcaaaagggtctggagctgg	11	8	17	5	1	2	2	0	1	2	1	3	5	2	3	0	5	1	3	0	5	4	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:11332360G>A	ENST00000315872.6	-	32	4525	c.4077C>T	c.(4075-4077)gcC>gcT	p.A1359A	ROCK2_ENST00000401753.1_Silent_p.A1116A	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1359					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GAGATGATCGGGCAAAAGGGT	0.428													62	177					0	0	0	0	A	11332360	G	A	11332360	2	1	356	1	0	0	0	0	0	0	0	1	13603	1219	43	4		4	ROCK2	2	11332360	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1143787	11332360	231867013	70	66784											
OTOF	9381	broad.mit.edu	37	chr2	26750726	26750726	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaagactttgctgtagttGaaaacctgaatctccagcat	12	12	8	9	0	1	4	0	3	1	1	2	4	1	4	2	0	3	4	2	0	5	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:26750726G>A	ENST00000272371.2	-	3	327	c.201C>T	c.(199-201)ttC>ttT	p.F67F	OTOF_ENST00000403946.3_Silent_p.F67F	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	67					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGTAGTTGAAAACCTGAA	0.577													33	79					0	0	0	0	A	26750726	G	A	26750726	2	1	356	1	0	0	0	0	0	0	0	1	11374	1281	45	2		2	OTOF	2	26750726	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	15418366	26750726	216448647	71	66785											
EMILIN1	11117	broad.mit.edu	37	chr2	27302057	27302057	+	Frame_Shift_Del	DEL	G	G	-																															ccagtggggccctcagccccGgggggccccaggcccagatt																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:27302057delG	ENST00000380320.4	+	1	623	c.124delG	c.(124-126)ggfs	p.G43fs		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	43					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCAGCCCCGGGGGGCCCCA	0.682													12	28	---	---	---	---					-	27302057	G	-	27302057	7	5	356	1	0	1	0	1	0	0	0	0	5131	1116	39	0	126	0	EMILIN1	2	27302057	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	551331	27302057	215897316	72	66786											
MPV17	4358	broad.mit.edu	37	chr2	27534804	27534804	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtagaagttggctaactGcacagcaggccatagctgca	12	7	12	10	0	0	1	0	0	0	1	0	1	0	1	1	3	5	7	1	3	4	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:27534804G>A	ENST00000357186.6	-	5	1485	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	MPV17_ENST00000380044.1_Nonsense_Mutation_p.Q142*|MPV17_ENST00000233545.2_Nonsense_Mutation_p.Q142*|MPV17_ENST00000405983.1_Nonsense_Mutation_p.Q157*|MPV17_ENST00000405076.1_Nonsense_Mutation_p.Q79*|MPV17_ENST00000402722.1_Intron|MPV17_ENST00000403262.2_Nonsense_Mutation_p.Q142*|MPV17_ENST00000402310.1_Intron			P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	142					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGCTAACTGCACAGCAGGC	0.532													10	34					0	0	0	0	A	27534804	G	A	27534804	4	1	356	1	0	0	0	0	0	1	0	0	9815	1328	46	4	114	4	MPV17	2	27534804	Nonsense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	232747	27534804	215664569	73	66787											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27900722	27900722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaacttttgaactgaGgaaagaacaacagagactta	17	8	9	7	0	0	5	0	3	0	3	0	8	0	6	1	1	4	0	1	1	6	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:27900722G>A	ENST00000326019.6	+	8	1976	c.1694G>A	c.(1693-1695)aGg>aAg	p.R565K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	565						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TTTGAACTGAGGAAAGAACAA	0.353													15	43					0	0	0	0	A	27900722	G	A	27900722	3	1	356	1	0	0	0	0	1	0	0	0	14741	1000	35	4	1724	4	SLC4A1AP	2	27900722	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	365918	27900722	215298651	74	66788											
NLRC4	58484	broad.mit.edu	37	chr2	32449824	32449824	+	Frame_Shift_Del	DEL	A	A	-																															tttttcagagggttctttccAaaaaatgcacctgggtaaag																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:32449824delA	ENST00000404025.2	-	10	3281	c.2793delT	c.(2791-2793)ttfs	p.F931fs	NLRC4_ENST00000342905.6_Frame_Shift_Del_p.F266fs|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.F931fs|NLRC4_ENST00000402280.1_Frame_Shift_Del_p.F931fs			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	931					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGTTCTTTCCAAAAAATGCAC	0.328													29	63	---	---	---	---					-	32449824	A	-	32449824	7	5	356	1	0	1	0	1	0	0	0	0	10539	127	5	0	285	0	NLRC4	2	32449824	Frame_Shift_Del	DEL	A	TCGA-CV-A6K1-01A-11D-A31L-08	4549102	32449824	210749549	75	66789											
BIRC6	57448	broad.mit.edu	37	chr2	32689676	32689676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgtgccttccaacccaGtggctgcccctggattcttc	5	12	8	16	0	2	0	0	0	2	0	4	1	3	1	5	2	3	1	5	2	1	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:32689676G>A	ENST00000421745.2	+	25	5175	c.5041G>A	c.(5041-5043)Gtg>Atg	p.V1681M		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1681					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTCCAACCCAGTGGCTGCCCC	0.493													8	15					0	0	0	0	A	32689676	G	A	32689676	3	1	356	1	0	0	0	0	1	0	0	0	1443	1029	36	4	5139	4	BIRC6	2	32689676	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	239852	32689676	210509697	76	66790											
HEATR5B	54497	broad.mit.edu	37	chr2	37255248	37255248	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggtaaacatggtatcaTcatccatctcatctttcttt	10	16	5	10	1	5	0	3	0	3	0	7	0	6	0	1	2	1	2	1	2	3	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:37255248T>C	ENST00000233099.5	-	24	3766	c.3671A>G	c.(3670-3672)gAt>gGt	p.D1224G	HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1224G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1224							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CATGGTATCATCATCCATCTC	0.408													8	53					0	0	0	0	C	37255248	T	C	37255248	3	2	356	1	0	0	0	0	1	0	0	0	7082	1435	50	5	2596	5	HEATR5B	2	37255248	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	4565572	37255248	205944125	77	66791											
LRPPRC	10128	broad.mit.edu	37	chr2	44121770	44121770	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagatttcacagttgatgccTaggaaattacataaaggtaa	16	11	8	6	0	1	2	1	1	0	1	1	3	1	3	1	2	2	2	1	2	6	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:44121770T>C	ENST00000260665.7	-	36	3958		c.e36-2			NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing						mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGTTGATGCCTAGGAAATTAC	0.274													22	50					0	0	0	0	C	44121770	T	C	44121770	5	2	356	1	0	0	0	0	0	0	1	0	9029	1536	53	5	297	5	LRPPRC	2	44121770	Splice_Site	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	6866522	44121770	199077603	78	66792											
SPTBN1	6711	broad.mit.edu	37	chr2	54891629	54891629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagcgaaatggtcaacggcGctacagaacaaaggacgagc	16	3	12	10	4	1	1	1	0	0	1	1	4	1	2	0	3	5	1	0	3	6	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:54891629G>A	ENST00000356805.4	+	33	6741	c.6460G>A	c.(6460-6462)Gct>Act	p.A2154T		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2154					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGTCAACGGCGCTACAGAACA	0.592													5	285					0	0	0	0	A	54891629	G	A	54891629	3	1	356	1	0	0	0	0	1	0	0	0	15209	1087	38	1	6786	1	SPTBN1	2	54891629	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	10769859	54891629	188307744	79	66793											
USP34	9736	broad.mit.edu	37	chr2	61566564	61566564	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaaccaacatactaacGaacaaagaagtttctctgct	16	10	5	10	1	1	1	0	0	1	1	2	2	1	1	1	0	6	3	1	0	8	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:61566564G>T	ENST00000398571.2	-	18	2742	c.2666C>A	c.(2665-2667)tCg>tAg	p.S889*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	889					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S889L(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACATACTAACGAACAAAGAAG	0.289													15	22					3.27435e-08	3.54577e-08	1	0	T	61566564	G	T	61566564	4	4	356	1	0	0	0	0	0	1	0	0	17161	1059	37	3	8226	3	USP34	2	61566564	Nonsense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	6674935	61566564	181632809	80	66794											
ANXA4	307	broad.mit.edu	37	chr2	70047928	70047928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acacttcaagagactctatgGaaagtctctgtactcgttca	12	12	7	10	1	4	1	2	0	2	1	6	3	4	2	0	1	1	2	0	1	4	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:70047928G>A	ENST00000394295.4	+	12	1129	c.881G>A	c.(880-882)gGa>gAa	p.G294E	ANXA4_ENST00000409920.1_Missense_Mutation_p.G272E|ANXA4_ENST00000536030.1_Missense_Mutation_p.G210E	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	292					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						AGACTCTATGGAAAGTCTCTG	0.478													31	66					0	0	0	0	A	70047928	G	A	70047928	3	1	356	1	0	0	0	0	1	0	0	0	719	1174	41	2	923	2	ANXA4	2	70047928	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	8481364	70047928	173151445	81	66795											
REG3G	130120	broad.mit.edu	37	chr2	79254236	79254236	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatccttcgtgtcctcccTggtgaggagcattagtaaca	8	11	12	10	1	0	1	0	1	0	0	4	3	3	3	3	3	2	2	3	3	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:79254236T>A	ENST00000272324.5	+	4	456	c.272T>A	c.(271-273)cTg>cAg	p.L91Q	REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Missense_Mutation_p.L91Q	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	91	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGTCCTCCCTGGTGAGGAGC	0.537													62	134					0	0	0	0	A	79254236	T	A	79254236	3	1	356	1	0	0	0	0	1	0	0	0	13295	1580	55	5	282	5	REG3G	2	79254236	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	9206308	79254236	163945137	82	66796											
REG1A	5967	broad.mit.edu	37	chr2	79350279	79350279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgacttataggattcCagaaatggaaggatgtgcct	12	12	10	7	0	1	2	1	1	0	1	2	5	2	5	2	3	1	0	2	3	4	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:79350279C>A	ENST00000233735.1	+	6	542	c.439C>A	c.(439-441)Cag>Aag	p.Q147K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	147	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TATAGGATTCCAGAAATGGAA	0.428													19	31					1.40151e-16	1.64852e-16	1	0	A	79350279	C	A	79350279	3	1	356	1	0	0	0	0	1	0	0	0	13292	595	21	4	457	4	REG1A	2	79350279	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	96043	79350279	163849094	83	66797											
VWA3B	200403	broad.mit.edu	37	chr2	98736107	98736107	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtcatcttggaacagtgCgtcaccatagtgctggattt	8	13	12	8	1	3	0	2	0	1	0	3	2	3	2	1	3	3	1	1	3	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:98736107C>T	ENST00000477737.1	+	4	627	c.423C>T	c.(421-423)tgC>tgT	p.C141C	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.C141C	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	141										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGAACAGTGCGTCACCATAG	0.517													76	171					0	0	0	0	T	98736107	C	T	98736107	2	4	356	1	0	0	0	0	0	0	0	1	17337	776	27	1		1	VWA3B	2	98736107	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	19385828	98736107	144463266	84	66798											
LONRF2	164832	broad.mit.edu	37	chr2	100916256	100916256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactgtctctttaagccaGcgctgggtgctgttggaagg	8	11	14	8	1	1	0	0	0	1	0	2	2	1	1	1	3	4	3	1	3	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:100916256G>A	ENST00000393437.3	-	5	1829	c.1190C>T	c.(1189-1191)gCt>gTt	p.A397V	LONRF2_ENST00000409647.1_Missense_Mutation_p.A154V	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	397					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CTTTAAGCCAGCGCTGGGTGC	0.448													23	55					0	0	0	0	A	100916256	G	A	100916256	3	1	356	1	0	0	0	0	1	0	0	0	8959	971	34	4	1106	4	LONRF2	2	100916256	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2180149	100916256	142283117	85	66799											
IL18RAP	8807	broad.mit.edu	37	chr2	103061768	103061768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaactccattggaaacacaaCccagtccgtccaactgaaag	15	6	7	13	1	0	1	0	1	0	0	3	3	3	2	4	1	4	0	4	1	5	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:103061768C>T	ENST00000264260.2	+	9	1629	c.1040C>T	c.(1039-1041)aCc>aTc	p.T347I	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T205I	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	347	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGAAACACAACCCAGTCCGTC	0.453													11	43					0	0	0	0	T	103061768	C	T	103061768	3	4	356	1	0	0	0	0	1	0	0	0	7701	507	18	4	1066	4	IL18RAP	2	103061768	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2145512	103061768	140137605	86	66800											
RANBP2	5903	broad.mit.edu	37	chr2	109371714	109371714	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaacaagtagaggccattaAggtaagtcacttaatttctc	14	11	7	9	0	2	1	1	0	1	1	3	1	2	1	2	2	1	2	2	2	6	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:109371714A>C	ENST00000283195.6	+	17	2591	c.2466_splice	c.e17+1	p.K822_splice		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	822					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAGGCCATTAAGGTAAGTCAC	0.378													9	208					0	0	0	0	C	109371714	A	C	109371714	5	2	356	1	0	0	0	0	0	0	1	0	13110	86	3	5	2531	5	RANBP2	2	109371714	Splice_Site	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	6309946	109371714	133827659	87	66801											
RGPD8	727851	broad.mit.edu	37	chr2	113146071	113146071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgccacatggtgactctCtgggagtgcttgaccgagaa	8	12	12	9	1	1	3	0	2	1	1	2	5	1	4	2	2	2	1	2	2	1	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:113146071C>T	ENST00000302558.3	-	20	4642	c.4451G>A	c.(4450-4452)aGa>aAa	p.R1484K	RGPD8_ENST00000409750.1_Missense_Mutation_p.R1344K	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TGGTGACTCTCTGGGAGTGCT	0.408													84	183					0	0	0	0	T	113146071	C	T	113146071	3	4	356	1	0	0	0	0	1	0	0	0	13373	913	32	2	862	2	RGPD8	2	113146071	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3774357	113146071	130053302	88	66802											
POTEF	728378	broad.mit.edu	37	chr2	130877830	130877830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcttcatagcagagtcgtCgtggtctccagaagcgccca	8	10	11	12	3	3	2	1	0	2	2	6	2	3	2	2	1	2	1	2	1	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:130877830C>T	ENST00000357462.5	-	1	352	c.259G>A	c.(259-261)Gac>Aac	p.D87N	POTEF_ENST00000360967.5_Missense_Mutation_p.D87N|POTEF_ENST00000361163.4_Missense_Mutation_p.D87N|POTEF_ENST00000409914.2_Missense_Mutation_p.D87N			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	87						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCAGAGTCGTCGTGGTCTCCA	0.602													10	391					0	0	0	0	T	130877830	C	T	130877830	3	4	356	1	0	0	0	0	1	0	0	0	12337	884	31	1	3028	1	POTEF	2	130877830	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	17731759	130877830	112321543	89	66803											
LRP1B	53353	broad.mit.edu	37	chr2	141116402	141116402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttaccaccacagtgatCttcatctgaattgtcaccgc	10	12	6	13	1	4	2	2	2	2	0	4	2	4	2	3	0	1	1	3	0	2	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:141116402C>A	ENST00000389484.3	-	73	12216	c.11245G>T	c.(11245-11247)Gat>Tat	p.D3749Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3749	LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACAGTGATCTTCATCTGAA	0.383										TSP Lung(27;0.18)			39	90					6.5261e-18	7.78064e-18	1	0	A	141116402	C	A	141116402	3	1	356	1	0	0	0	0	1	0	0	0	9019	913	32	2	2630	2	LRP1B	2	141116402	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	10238572	141116402	102082971	90	66804											
SCN3A	6328	broad.mit.edu	37	chr2	166003408	166003408	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctctctctgtcttcttttCttccttcggttcctccattc	1	21	4	15	1	5	0	0	0	5	0	11	0	8	0	3	1	1	2	3	1	0	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:166003408C>T	ENST00000360093.3	-	12	2003	c.1512G>A	c.(1510-1512)aaG>aaA	p.K504K	SCN3A_ENST00000409101.3_Silent_p.K504K|SCN3A_ENST00000283254.7_Silent_p.K504K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	504						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTCTTCTTTTCTTCCTTCGGT	0.438													39	110					0	0	0	0	T	166003408	C	T	166003408	2	4	356	1	0	0	0	0	0	0	0	1	14005	912	32	2		2	SCN3A	2	166003408	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	24887006	166003408	77195965	91	66805											
SCN1A	6323	broad.mit.edu	37	chr2	166908346	166908346	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccaaggaagcattggTgggaggccattgtatacatt	10	12	11	8	0	0	0	0	0	0	0	2	2	2	2	3	4	2	2	3	4	4	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:166908346T>G	ENST00000423058.2	-	6	864	c.847A>C	c.(847-849)Acc>Ccc	p.T283P	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.T283P|SCN1A_ENST00000375405.3_Missense_Mutation_p.T283P|SCN1A_ENST00000303395.4_Missense_Mutation_p.T283P|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	283						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GAAGCATTGGTGGGAGGCCAT	0.393													10	28					0	0	0	0	G	166908346	T	G	166908346	3	3	356	1	0	0	0	0	1	0	0	0	14001	1696	59	5	5266	5	SCN1A	2	166908346	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	904938	166908346	76291027	92	66806											
XIRP2	129446	broad.mit.edu	37	chr2	167760330	167760330	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gattgaacgcttttccattgCccttgatgagctgaggagtg	8	13	12	8	1	0	4	0	4	0	0	1	6	1	5	2	1	3	2	2	1	1	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:167760330C>G	ENST00000409195.1	+	2	427	c.338C>G	c.(337-339)gCc>gGc	p.A113G	XIRP2_ENST00000409728.1_Missense_Mutation_p.A113G|XIRP2_ENST00000409043.1_Missense_Mutation_p.A113G|XIRP2_ENST00000295237.9_Missense_Mutation_p.A113G|XIRP2_ENST00000409756.2_Missense_Mutation_p.A113G|XIRP2_ENST00000420519.1_Missense_Mutation_p.A113G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	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						TTTTCCATTGCCCTTGATGAG	0.498													22	55					0	0	0	0	G	167760330	C	G	167760330	3	3	356	1	0	0	0	0	1	0	0	0	17526	739	26	4	340	4	XIRP2	2	167760330	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	851984	167760330	75439043	93	66807											
TTN	7273	broad.mit.edu	37	chr2	179413860	179413860	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagttgtctttgatgtgtcTgttactttgaccactgtggg	6	17	11	7	0	2	2	0	2	2	0	2	2	2	2	1	1	1	2	1	1	1	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:179413860T>G	ENST00000589042.1	-	339	92717	c.92493A>C	c.(92491-92493)acA>acC	p.T30831T	TTN_ENST00000342175.6_Silent_p.T21958T|TTN_ENST00000460472.2_Silent_p.T21766T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.T21891T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.T28263T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T29190T|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29190	Fibronectin type-III 124.						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)			TTGATGTGTCTGTTACTTTGA	0.448													13	34					0	0	0	0	G	179413860	T	G	179413860	2	3	356	1	0	0	0	0	0	0	0	1	16831	1567	55	5		5	TTN	2	179413860	Silent	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	11653530	179413860	63785513	94	66808											
TTN	7273	broad.mit.edu	37	chr2	179441117	179441117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtagtatcagtgacatGcggatttgaaggtggtcctg	8	13	14	6	1	1	2	1	2	0	0	2	3	2	3	1	4	1	2	1	4	3	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:179441117G>A	ENST00000589042.1	-	326	69966	c.69742C>T	c.(69742-69744)Cat>Tat	p.H23248Y	TTN_ENST00000342175.6_Missense_Mutation_p.H14375Y|TTN_ENST00000460472.2_Missense_Mutation_p.H14183Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H14308Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H20680Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H21607Y|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21607	Fibronectin type-III 68.						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)			TCAGTGACATGCGGATTTGAA	0.403													17	22					0	0	0	0	A	179441117	G	A	179441117	3	1	356	1	0	0	0	0	1	0	0	0	16831	1319	46	4	38385	4	TTN	2	179441117	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	27257	179441117	63758256	95	66809											
TTN	7273	broad.mit.edu	37	chr2	179582534	179582534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagaaaggtggaagtttgCgcgctgtaaagaagttacag	15	8	13	5	2	0	2	0	0	0	2	0	3	0	3	0	2	2	4	0	2	7	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:179582534C>A	ENST00000589042.1	-	87	25291	c.25067G>T	c.(25066-25068)cGc>cTc	p.R8356L	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R7112L|TTN_ENST00000591111.1_Missense_Mutation_p.R8039L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8039	Ig-like 66.						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)			TGGAAGTTTGCGCGCTGTAAA	0.373													6	30					0.217242	0.217242	1	0	A	179582534	C	A	179582534	3	1	356	1	0	0	0	0	1	0	0	0	16831	768	27	3	79566	3	TTN	2	179582534	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	141417	179582534	63616839	96	66810											
TTN	7273	broad.mit.edu	37	chr2	179586717	179586717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtgattgtatagtttcctCcaggacggatctccttgtta	8	16	9	8	1	1	1	0	1	1	0	4	3	3	3	3	2	0	3	3	2	3	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:179586717C>A	ENST00000589042.1	-	78	22897	c.22673G>T	c.(22672-22674)gGa>gTa	p.G7558V	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6314V|TTN_ENST00000591111.1_Missense_Mutation_p.G7241V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7241	Ig-like 57.						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)			ATAGTTTCCTCCAGGACGGAT	0.418													53	119					3.07002e-29	3.80806e-29	1	0	A	179586717	C	A	179586717	3	1	356	1	0	0	0	0	1	0	0	0	16831	855	30	2	81996	2	TTN	2	179586717	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	4183	179586717	63612656	97	66811											
ZNF804A	91752	broad.mit.edu	37	chr2	185798422	185798422	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggaaaaggcactccaacgCctgcacaagctggctgagct	12	5	11	13	1	0	1	0	1	0	0	1	2	1	2	2	3	4	5	2	3	4	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:185798422C>A	ENST00000302277.6	+	3	942	c.348C>A	c.(346-348)cgC>cgA	p.R116R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	116						intracellular	zinc ion binding	p.R116R(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CACTCCAACGCCTGCACAAGC	0.403													11	27					0.00829132	0.00844257	1	0	A	185798422	C	A	185798422	2	1	356	1	0	0	0	0	0	0	0	1	18263	726	26	4		4	ZNF804A	2	185798422	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	6211705	185798422	57400951	98	66812											
MSTN	2660	broad.mit.edu	37	chr2	190927173	190927173	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaatggcttctattcttgaAgatttagtgttttgtctcca	8	20	7	6	0	3	2	0	1	3	1	4	2	3	2	1	1	0	2	1	1	4	9			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:190927173A>C	ENST00000260950.4	-	1	282	c.150T>G	c.(148-150)tcT>tcG	p.S50S	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	50					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CTATTCTTGAAGATTTAGTGT	0.378													14	103					0	0	0	0	C	190927173	A	C	190927173	2	2	356	1	0	0	0	0	0	0	0	1	9963	59	3	5		5	MSTN	2	190927173	Silent	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	5128751	190927173	52272200	99	66813											
STAT4	6775	broad.mit.edu	37	chr2	191894585	191894585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcattcagcagaataaggaGacttcatctaaaattaaaaa	19	10	6	6	0	4	2	3	0	1	2	4	3	4	2	0	1	1	1	0	1	7	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:191894585G>T	ENST00000392320.2	-	24	2542	c.2228C>A	c.(2227-2229)tCt>tAt	p.S743Y	STAT4_ENST00000358470.4_Missense_Mutation_p.S743Y|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	743					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGAATAAGGAGACTTCATCTA	0.328													12	202					2.32078e-09	2.54004e-09	1	0	T	191894585	G	T	191894585	3	4	356	1	0	0	0	0	1	0	0	0	15357	942	33	2	22	2	STAT4	2	191894585	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	967412	191894585	51304788	100	66814											
DNAH7	56171	broad.mit.edu	37	chr2	196681514	196681514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caataggacgatagcccatgCgggtggtgtcaatctttttc	9	12	11	9	2	2	0	1	0	1	0	3	2	2	1	1	3	2	0	1	3	4	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:196681514C>T	ENST00000312428.6	-	51	9699	c.9599G>A	c.(9598-9600)cGc>cAc	p.R3200H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3200					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R3200L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAGCCCATGCGGGTGGTGTC	0.438													4	84					0	0	0	0	T	196681514	C	T	196681514	3	4	356	1	0	0	0	0	1	0	0	0	4642	768	27	1	2535	1	DNAH7	2	196681514	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	4786929	196681514	46517859	101	66815											
AOX1	316	broad.mit.edu	37	chr2	201477409	201477410	+	Frame_Shift_Ins	INS	-	-	T																															tcaattcaggaatgagagtcINSttttttggagaaggggatgg																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:201477409_201477410insT	ENST00000374700.2	+	14	1582_1583	c.1341_1342insT	c.(1339-1344)gtttttfs	p.VF447fs	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	447					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.F448fs*10(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAATGAGAGTCTTTTTTGGAGA	0.47													37	81	---	---	---	---					T	201477410	-	T	201477409	7	5	356	1	0	1	1	0	0	0	0	0	730	900	32	0	1395	0	AOX1	2	201477409	Frame_Shift_Ins	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	4795895	201477409	41721964	102	66816											
STK36	27148	broad.mit.edu	37	chr2	219540175	219540175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcctcgccaagggtggtgGcatcaagctctgtgactttg	6	11	12	12	1	2	1	1	1	1	0	4	1	3	1	3	3	1	2	3	3	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:219540175G>A	ENST00000295709.3	+	5	692	c.413G>A	c.(412-414)gGc>gAc	p.G138D	STK36_ENST00000392106.2_Missense_Mutation_p.G138D|STK36_ENST00000440309.1_Missense_Mutation_p.G138D|STK36_ENST00000392105.3_Missense_Mutation_p.G138D	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	138	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AAGGGTGGTGGCATCAAGCTC	0.458													29	76					0	0	0	0	A	219540175	G	A	219540175	3	1	356	1	0	0	0	0	1	0	0	0	15392	1203	42	4	427	4	STK36	2	219540175	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	18062766	219540175	23659198	103	66817											
CCDC108	255101	broad.mit.edu	37	chr2	219875636	219875636	+	Frame_Shift_Del	DEL	T	T	-																															aaaagatggggtgatcaaaaTttttttcctgaacctgtgac																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:219875636delT	ENST00000341552.5	-	25	4123	c.4040delA	c.(4039-4041)atfs	p.N1347fs	CCDC108_ENST00000453220.1_Frame_Shift_Del_p.N1347fs|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.N1347fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1347						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGATCAAAATTTTTTTCCTG	0.522													21	31	---	---	---	---					-	219875636	T	-	219875636	7	5	356	1	0	1	0	1	0	0	0	0	2768	1493	52	0	1781	0	CCDC108	2	219875636	Frame_Shift_Del	DEL	T	TCGA-CV-A6K1-01A-11D-A31L-08	335461	219875636	23323737	104	66818											
GLB1L	79411	broad.mit.edu	37	chr2	220103853	220103853	+	Frame_Shift_Del	DEL	G	G	-																															agagcaaaaagcttaggtgtGgggtcccctgcttcagatat																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:220103853delG	ENST00000295759.7	-	11	1336	c.1023delC	c.(1021-1023)ccfs	p.P341fs	GLB1L_ENST00000392089.2_Frame_Shift_Del_p.P341fs|GLB1L_ENST00000356283.3_Frame_Shift_Del_p.P251fs|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Frame_Shift_Del_p.P251fs			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	341					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTTAGGTGTGGGGTCCCCTG	0.453													26	63	---	---	---	---					-	220103853	G	-	220103853	7	5	356	1	0	1	0	1	0	0	0	0	6479	1335	47	0	969	0	GLB1L	2	220103853	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	228217	220103853	23095520	105	66819											
ACSL3	2181	broad.mit.edu	37	chr2	223793637	223793638	+	Frame_Shift_Ins	INS	-	-	A																															gtttgctgtgaaatcaaattINSaaaaaactgggaggaaggta																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:223793637_223793638insA	ENST00000357430.3	+	13	2054_2055	c.1523_1524insA	c.(1522-1524)taafs	p.*508fs	ACSL3_ENST00000392066.3_Frame_Shift_Ins_p.*508fs	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	508					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GAAATCAAATTAAAAAACTGGG	0.322			T	ETV1	prostate								23	60	---	---	---	---					A	223793638	-	A	223793637	7	5	356	1	0	1	1	0	0	0	0	0	178	1764	61	0	1561	0	ACSL3	2	223793637	Frame_Shift_Ins	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	3689784	223793637	19405736	106	66820											
HDAC4	9759	broad.mit.edu	37	chr2	239975189	239975189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttcacgcccacggacagcGaggccatggcggtgaccgtc	7	5	14	15	5	1	1	1	1	0	0	2	3	1	2	3	4	1	1	3	4	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:239975189G>A	ENST00000345617.3	-	26	3973	c.3182C>T	c.(3181-3183)tCg>tTg	p.S1061L	HDAC4_ENST00000543185.1_Missense_Mutation_p.S645L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1061	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CACGGACAGCGAGGCCATGGC	0.657													28	65					0	0	0	0	A	239975189	G	A	239975189	3	1	356	1	0	0	0	0	1	0	0	0	7059	1059	37	1	80	1	HDAC4	2	239975189	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	16181552	239975189	3224184	107	66821											
HDAC4	9759	broad.mit.edu	37	chr2	240009285	240009285	+	Frame_Shift_Del	DEL	G	G	-																															tctcctccgcatggtgtccaGgggggcggaccacagcaaag																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:240009285delG	ENST00000345617.3	-	19	3190	c.2399delC	c.(2398-2400)ctfs	p.P800fs	HDAC4_ENST00000543185.1_Frame_Shift_Del_p.P384fs	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	800	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ATGGTGTCCAGGGGGGCGGAC	0.607													9	32	---	---	---	---					-	240009285	G	-	240009285	7	5	356	1	0	1	0	1	0	0	0	0	7059	1000	35	0	891	0	HDAC4	2	240009285	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	34096	240009285	3190088	108	66822											
PRR21	643905	broad.mit.edu	37	chr2	240982232	240982232	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgtggatgaagggccgtgGgtgaagagccgtggatgaag	9	6	20	6	3	0	4	0	3	0	1	0	6	0	6	3	4	1	0	3	4	3	0	rs71420284		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:240982232G>T	ENST00000408934.1	-	1	167	c.168C>A	c.(166-168)acC>acA	p.T56T		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	56	Pro-rich.									NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AAGGGCCGTGGGTGAAGAGCC	0.592													13	12					9.31168e-06	9.79002e-06	1	0	T	240982232	G	T	240982232	2	4	356	1	0	0	0	0	0	0	0	1	12672	1219	43	4		4	PRR21	2	240982232	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	972947	240982232	2217141	109	66823											
SNED1	25992	broad.mit.edu	37	chr2	242011234	242011234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcggagcttgtggacggcaGaggaagagtgagcgccaggt	9	6	18	8	3	0	3	0	1	0	2	1	6	0	6	1	5	2	2	1	5	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:242011234G>C	ENST00000310397.8	+	26	3758	c.3758G>C	c.(3757-3759)aGa>aCa	p.R1253T	SNED1_ENST00000342631.6_Missense_Mutation_p.R1253T|SNED1_ENST00000401884.1_Missense_Mutation_p.R1253T|SNED1_ENST00000405547.3_Missense_Mutation_p.R1253T	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1253					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GTGGACGGCAGAGGAAGAGTG	0.672													4	16					0	0	0	0	C	242011234	G	C	242011234	3	2	356	1	0	0	0	0	1	0	0	0	14933	942	33	2	3860	2	SNED1	2	242011234	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1029002	242011234	1188139	110	66824											
PDCD1	5133	broad.mit.edu	37	chr2	242793362	242793363	+	Frame_Shift_Ins	INS	-	-	G																															tgctcagggacacagggcacINSggggggctccggggtcttct																								rs137861407	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:242793362_242793363insG	ENST00000334409.5	-	5	783_784	c.714_715insC	c.(712-717)cctgccfs	p.A239fs		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	239					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		ACACAGGGCACGGGGGGCTCCG	0.629													19	69	---	---	---	---					G	242793363	-	G	242793362	7	5	356	1	0	1	1	0	0	0	0	0	11686	536	19	0	155	0	PDCD1	2	242793362	Frame_Shift_Ins	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	782128	242793362	406011	111	66825											
GRM7	2917	broad.mit.edu	37	chr3	7728108	7728108	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtacactatcccaccaacAgtatagcttttgactgcttt	10	14	6	11	0	0	1	0	1	0	0	1	1	1	1	2	1	4	4	2	1	5	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:7728108A>C	ENST00000486284.1	+	10	3037	c.2763A>C	c.(2761-2763)acA>acC	p.T921T	GRM7_ENST00000357716.4_Intron|GRM7_ENST00000402647.2_Silent_p.T921T|GRM7_ENST00000403881.1_Intron|GRM7_ENST00000389336.4_Intron	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	0					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			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)	TCCCACCAACAGTATAGCTTT	0.323													7	18					0	0	0	0	C	7728108	A	C	7728108	2	2	356	1	0	0	0	0	0	0	0	1	6852	175	7	5		5	GRM7	3	7728108	Silent	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08		7728108	190294322	112	66826											
NUP210	23225	broad.mit.edu	37	chr3	13364886	13364886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggaagctggtctggatgGggtggaggtgacgggccatg	6	8	20	7	1	1	1	0	1	1	0	1	4	1	4	2	8	1	1	2	8	1	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:13364886G>T	ENST00000254508.5	-	34	4773	c.4691C>A	c.(4690-4692)cCc>cAc	p.P1564H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1564					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGTCTGGATGGGGTGGAGGTG	0.592													59	75					7.75977e-34	9.72347e-34	1	0	T	13364886	G	T	13364886	3	4	356	1	0	0	0	0	1	0	0	0	10831	1232	43	4	1000	4	NUP210	3	13364886	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	5636778	13364886	184657544	113	66827											
OXSM	54995	broad.mit.edu	37	chr3	25832847	25832847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtgtccaaatcagatatCaagtccatgtcttctcccac	10	14	5	12	0	4	1	2	0	2	1	7	1	6	1	3	0	0	0	3	0	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:25832847C>T	ENST00000280701.3	+	2	435	c.336C>T	c.(334-336)atC>atT	p.I112I	OXSM_ENST00000449808.1_Intron|OXSM_ENST00000420173.2_Silent_p.I112I	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	112					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AATCAGATATCAAGTCCATGT	0.453													24	20					0	0	0	0	T	25832847	C	T	25832847	2	4	356	1	0	0	0	0	0	0	0	1	11406	816	29	2		2	OXSM	3	25832847	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	12467961	25832847	172189583	114	66828											
SCN5A	6331	broad.mit.edu	37	chr3	38622626	38622626	+	Frame_Shift_Del	DEL	G	G	-																															tctgggggtggcggggagtaGggggtggcaatgcagctggg																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:38622626delG	ENST00000413689.1	-	17	3217	c.3024delC	c.(3022-3024)ccfs	p.P1008fs	SCN5A_ENST00000443581.1_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000333535.4_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.P1008fs	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1008					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCGGGGAGTAGGGGGTGGCAA	0.687													12	7	---	---	---	---					-	38622626	G	-	38622626	7	5	356	1	0	1	0	1	0	0	0	0	14009	987	35	0	3074	0	SCN5A	3	38622626	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	12789779	38622626	159399804	115	66829											
XIRP1	165904	broad.mit.edu	37	chr3	39227313	39227313	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagacttctgccatcgccttCcctggtggcccccaggccat	5	9	9	18	1	1	1	0	0	1	1	3	1	2	1	6	3	1	0	6	3	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:39227313C>T	ENST00000340369.3	-	2	3852	c.3624G>A	c.(3622-3624)ggG>ggA	p.G1208G	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1208							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCATCGCCTTCCCTGGTGGCC	0.692													25	19					0	0	0	0	T	39227313	C	T	39227313	2	4	356	1	0	0	0	0	0	0	0	1	17525	842	30	2		2	XIRP1	3	39227313	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	604687	39227313	158795117	116	66830											
CYP8B1	1582	broad.mit.edu	37	chr3	42916638	42916638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccacttctagccactccCggggccacagcagggagtag	8	5	13	15	1	1	0	0	0	1	0	2	1	2	1	4	4	2	2	4	4	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:42916638C>A	ENST00000316161.4	-	1	995	c.671G>T	c.(670-672)cGg>cTg	p.R224L	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R224L|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	224					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)		TAGCCACTCCCGGGGCCACAG	0.567													18	17					1.96292e-10	2.17551e-10	1	0	A	42916638	C	A	42916638	3	1	356	1	0	0	0	0	1	0	0	0	4230	652	23	3	838	3	CYP8B1	3	42916638	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3689325	42916638	155105792	117	66831											
RNF123	63891	broad.mit.edu	37	chr3	49735362	49735362	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatccgctctaccacatgCgtgtacaaaggtgagacctt	11	9	8	13	2	1	1	0	1	1	1	2	2	2	1	4	1	3	2	4	1	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:49735362C>T	ENST00000327697.6	+	6	531	c.387C>T	c.(385-387)tgC>tgT	p.C129C	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	129	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTACCACATGCGTGTACAAAG	0.562													7	254					0	0	0	0	T	49735362	C	T	49735362	2	4	356	1	0	0	0	0	0	0	0	1	13518	776	27	1		1	RNF123	3	49735362	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	6818724	49735362	148287068	118	66832											
SHQ1	55164	broad.mit.edu	37	chr3	72890301	72890301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggtgtctgctcaatttcCcaatcaaactcttcatcgtc	9	13	6	13	1	5	0	3	0	2	0	8	0	6	0	1	1	2	1	1	1	3	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:72890301C>A	ENST00000325599.8	-	4	520	c.381G>T	c.(379-381)tgG>tgT	p.W127C	SHQ1_ENST00000463369.1_Missense_Mutation_p.W99C	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	127					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GCTCAATTTCCCAATCAAACT	0.388													27	32					1.26454e-06	1.34563e-06	1	0	A	72890301	C	A	72890301	3	1	356	1	0	0	0	0	1	0	0	0	14380	624	22	4	1384	4	SHQ1	3	72890301	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	23154939	72890301	125132129	119	66833											
PVRL3	25945	broad.mit.edu	37	chr3	110852821	110852822	+	Frame_Shift_Ins	INS	-	-	A																															gattcttacccagacagtgtINSaaaaaaagaaaacaaaaatc																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:110852821_110852822insA	ENST00000485303.1	+	6	1684_1685	c.1409_1410insA	c.(1408-1410)gaafs	p.E470fs	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	470					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						CCAGACAGTGTAAAAAAAGAAA	0.337													16	21	---	---	---	---					A	110852822	-	A	110852821	7	5	356	1	0	1	1	0	0	0	0	0	12923	1638	57	0	1431	0	PVRL3	3	110852821	Frame_Shift_Ins	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	37962520	110852821	87169609	120	66834											
LSAMP	4045	broad.mit.edu	37	chr3	115805312	115805312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtttctccagctcaacccGtgggtccagagaccacttgt	7	10	10	14	2	2	1	1	0	1	1	4	2	3	1	4	1	2	2	4	1	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:115805312G>A	ENST00000490035.1	-	2	746	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	LSAMP_ENST00000539563.1_Missense_Mutation_p.R80W	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	83	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		AGCTCAACCCGTGGGTCCAGA	0.502													24	62					0	0	0	0	A	115805312	G	A	115805312	3	1	356	1	0	0	0	0	1	0	0	0	9112	1144	40	1	793	1	LSAMP	3	115805312	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	4952491	115805312	82217118	121	66835											
CASR	846	broad.mit.edu	37	chr3	122003855	122003855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattactcccgctgcagtgCggggaaacggacttagatct	9	9	11	12	3	1	1	0	0	1	1	2	3	2	3	2	3	4	2	2	3	3	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:122003855C>T	ENST00000498619.1	+	7	3522	c.3084C>T	c.(3082-3084)tgC>tgT	p.C1028C	CASR_ENST00000490131.1_Silent_p.C1018C|CASR_ENST00000296154.5_Silent_p.C1018C	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1018					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGCTGCAGTGCGGGGAAACGG	0.602													26	42					0	0	0	0	T	122003855	C	T	122003855	2	4	356	1	0	0	0	0	0	0	0	1	2707	776	27	1		1	CASR	3	122003855	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	6198543	122003855	76018575	122	66836											
ALDH1L1	10840	broad.mit.edu	37	chr3	125872376	125872376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgggcaaagcgtctccctCgggcaccaggcctgaagtgt	8	7	14	12	2	1	1	0	1	1	0	3	2	1	1	3	3	1	2	3	3	2	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:125872376C>T	ENST00000393434.2	-	7	1118	c.769G>A	c.(769-771)Gag>Aag	p.E257K	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E257K|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.E82K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E267K|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.E156K|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.E257K	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	257					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCGTCTCCCTCGGGCACCAGG	0.537													29	67					0	0	0	0	T	125872376	C	T	125872376	3	4	356	1	0	0	0	0	1	0	0	0	494	893	31	1	2007	1	ALDH1L1	3	125872376	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3868521	125872376	72150054	123	66837											
COL6A5	256076	broad.mit.edu	37	chr3	130095261	130095261	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttcacagtgaattccaTctgagcaccttcaaaggcag	12	10	9	10	0	3	2	2	2	1	0	4	3	4	2	2	1	1	3	2	1	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:130095261T>C	ENST00000265379.6	+	3	743	c.249T>C	c.(247-249)caT>caC	p.H83H	COL6A5_ENST00000432398.2_Silent_p.H83H			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	83	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTGAATTCCATCTGAGCACCT	0.498													9	17					0	0	0	0	C	130095261	T	C	130095261	2	2	356	1	0	0	0	0	0	0	0	1	3732	1432	50	5		5	COL6A5	3	130095261	Silent	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	4222885	130095261	67927169	124	66838											
COL6A6	131873	broad.mit.edu	37	chr3	130318621	130318621	+	Frame_Shift_Del	DEL	C	C	-																															ggcagaagaggctggccaggCccccccgggacaccaggctc																								rs112135798		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:130318621delC	ENST00000358511.6	+	19	4651	c.4620delC	c.(4618-4620)ggfs	p.G1540fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.G1540fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1540	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCTGGCCAGGCCCCCCCGGGA	0.498													19	53	---	---	---	---					-	130318621	C	-	130318621	7	5	356	1	0	1	0	1	0	0	0	0	3733	726	26	0	4694	0	COL6A6	3	130318621	Frame_Shift_Del	DEL	C	TCGA-CV-A6K1-01A-11D-A31L-08	223360	130318621	67703809	125	66839											
SLCO2A1	6578	broad.mit.edu	37	chr3	133657316	133657316	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccccgatggcaaatgaCttttcctcctggttcaccac	8	11	7	15	1	1	1	1	1	0	0	3	2	3	1	5	2	1	3	5	2	1	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:133657316C>A	ENST00000310926.4	-	12	1920	c.1647G>T	c.(1645-1647)aaG>aaT	p.K549N	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.K473N	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	549					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TGGCAAATGACTTTTCCTCCT	0.552													54	95					1.54886e-18	1.85742e-18	1	0	A	133657316	C	A	133657316	3	1	356	1	0	0	0	0	1	0	0	0	14814	564	20	4	296	4	SLCO2A1	3	133657316	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3338695	133657316	64365114	126	66840											
CP	1356	broad.mit.edu	37	chr3	148895683	148895683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtaagtctatttcattgcCcattcccatcagataccagt	10	14	6	11	0	3	1	2	0	1	1	4	1	4	1	3	0	2	1	3	0	3	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:148895683C>A	ENST00000264613.6	-	17	3224	c.2962G>T	c.(2962-2964)Ggc>Tgc	p.G988C		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	988	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATTTCATTGCCCATTCCCATC	0.418													33	65					1.26612e-14	1.4558e-14	1	0	A	148895683	C	A	148895683	3	1	356	1	0	0	0	0	1	0	0	0	3817	623	22	4	247	4	CP	3	148895683	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	15238367	148895683	49126747	127	66841											
PEX5L	51555	broad.mit.edu	37	chr3	179525601	179525601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccaaggtcgccccgaggcGgttccatagtgaatagtcct	8	8	12	13	4	0	1	0	1	0	0	3	2	2	1	5	3	0	1	5	3	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:179525601G>A	ENST00000467460.1	-	14	1867	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	PEX5L_ENST00000485199.1_Missense_Mutation_p.R478C|PEX5L_ENST00000476138.1_Missense_Mutation_p.R470C|PEX5L_ENST00000472994.1_Missense_Mutation_p.R454C|PEX5L_ENST00000468741.1_Missense_Mutation_p.R321C|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.R489C|PEX5L_ENST00000464614.1_Missense_Mutation_p.R405C|PEX5L_ENST00000392649.3_Missense_Mutation_p.R405C|PEX5L_ENST00000263962.8_Missense_Mutation_p.R511C	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	513					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCCCCGAGGCGGTTCCATAGT	0.522													46	112					0	0	0	0	A	179525601	G	A	179525601	3	1	356	1	0	0	0	0	1	0	0	0	11821	1116	39	1	351	1	PEX5L	3	179525601	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	30629918	179525601	18496829	128	66842											
BCL6	604	broad.mit.edu	37	chr3	187447317	187447317	+	Frame_Shift_Del	DEL	G	G	-																															gccttgtcacaagggaagtaGggggcatttcgggctgaggg																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:187447317delG	ENST00000406870.2	-	5	1242	c.876delC	c.(874-876)ccfs	p.P292fs	BCL6_ENST00000232014.4_Frame_Shift_Del_p.P292fs|BCL6_ENST00000450123.2_Frame_Shift_Del_p.P292fs|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	292					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AAGGGAAGTAGGGGGCATTTC	0.557			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								47	131	---	---	---	---					-	187447317	G	-	187447317	7	5	356	1	0	1	0	1	0	0	0	0	1380	987	35	0	1268	0	BCL6	3	187447317	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	7921716	187447317	10575113	129	66843											
ATP13A3	79572	broad.mit.edu	37	chr3	194140669	194140669	+	Frame_Shift_Del	DEL	A	A	-																															tgaataatataaaaatatatAaaaaaatcacagaaaaaaca																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:194140669delA	ENST00000439040.1	-	31	4132	c.3341delT	c.(3340-3342)tafs	p.L1114fs	ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.L1114fs			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1114					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		aaaaatatataaaaaaatCAC	0.299													15	39	---	---	---	---					-	194140669	A	-	194140669	7	5	356	1	0	1	0	1	0	0	0	0	1129	372	13	0	351	0	ATP13A3	3	194140669	Frame_Shift_Del	DEL	A	TCGA-CV-A6K1-01A-11D-A31L-08	6693352	194140669	3881761	130	66844											
DLG1	1739	broad.mit.edu	37	chr3	196817840	196817840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctgaccctgaactaataCtactattcatcatctgctcc	12	12	3	14	0	3	2	2	2	1	0	4	2	4	2	3	0	5	1	3	0	6	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:196817840C>A	ENST00000346964.2	-	16	1892	c.1703G>T	c.(1702-1704)aGt>aTt	p.S568I	DLG1_ENST00000452595.1_Missense_Mutation_p.S452I|DLG1_ENST00000314062.3_Missense_Mutation_p.S517I|DLG1_ENST00000450955.1_Missense_Mutation_p.S535I|DLG1_ENST00000448528.2_Missense_Mutation_p.S568I|DLG1_ENST00000443183.1_Missense_Mutation_p.S452I|DLG1_ENST00000422288.1_Missense_Mutation_p.S517I|DLG1_ENST00000419354.1_Missense_Mutation_p.S568I|DLG1_ENST00000392382.2_Missense_Mutation_p.S535I|DLG1_ENST00000357674.4_Missense_Mutation_p.S535I	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	568					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGAACTAATACTACTATTCAT	0.318													28	60					4.2108e-06	4.45764e-06	1	0	A	196817840	C	A	196817840	3	1	356	1	0	0	0	0	1	0	0	0	4591	565	20	4	1159	4	DLG1	3	196817840	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2677171	196817840	1204590	131	66845											
ZNF595	152687	broad.mit.edu	37	chr4	59391	59391	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaaatgtctggaccctgcCcagcagaatttgtatagaga	12	10	11	8	0	1	2	0	0	1	2	1	5	1	4	2	2	2	2	2	2	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:59391C>T	ENST00000509152.2	+	2	257	c.72C>T	c.(70-72)gcC>gcT	p.A24A	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.A24A					zinc finger protein 595									p.A24A(2)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGGACCCTGCCCAGCAGAATT	0.428													30	506					0	0	0	0	T	59391	C	T	59391	2	4	356	1	0	0	0	0	0	0	0	1	18120	610	22	4		4	ZNF595	4	59391	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08		59391	191094885	132	66846											
GAK	2580	broad.mit.edu	37	chr4	906584	906584	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcattggataatagcctcTgtatcaggaaacagcacaca	14	10	7	10	0	3	0	2	0	1	0	3	2	3	2	1	2	3	2	1	2	4	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:906584T>A	ENST00000314167.4	-	3	318		c.e3-2		GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase						cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TAATAGCCTCTGTATCAGGAA	0.448													16	22					0	0	0	0	A	906584	T	A	906584	5	1	356	1	0	0	0	0	0	0	1	0	6244	1594	55	5	3833	5	GAK	4	906584	Splice_Site	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	847193	906584	190247692	133	66847											
TACC3	10460	broad.mit.edu	37	chr4	1730164	1730164	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatttgatgtatctgatggCgccaccagcaaaagggcacc	12	8	11	10	1	1	2	0	2	1	0	1	3	1	2	3	2	1	3	3	2	4	2	rs142409115	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:1730164C>T	ENST00000313288.4	+	4	1141	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	345						centrosome		p.G345G(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TATCTGATGGCGCCACCAGCA	0.592													10	53					0	0	0	0	T	1730164	C	T	1730164	2	4	356	1	0	0	0	0	0	0	0	1	15594	755	27	1		1	TACC3	4	1730164	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	823580	1730164	189424112	134	66848											
SLC2A9	56606	broad.mit.edu	37	chr4	10022970	10022970	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagcagtgccctccctggCcctggaggcccggcgtggct	3	7	14	17	2	0	0	0	0	0	0	2	1	2	1	5	5	2	2	5	5	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:10022970C>T	ENST00000264784.3	-	1	137	c.84G>A	c.(82-84)ggG>ggA	p.G28G	SLC2A9_ENST00000506583.1_Intron|SLC2A9_ENST00000309065.3_Intron	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	28					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CCCTCCCTGGCCCTGGAGGCC	0.587													18	58					0	0	0	0	T	10022970	C	T	10022970	2	4	356	1	0	0	0	0	0	0	0	1	14640	726	26	4		4	SLC2A9	4	10022970	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	8292806	10022970	181131306	135	66849											
PDS5A	23244	broad.mit.edu	37	chr4	39929663	39929663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaacatgctacaaggagaCgcacatctttattggggttc	13	10	9	9	1	1	1	0	0	1	1	2	2	1	1	0	3	4	3	0	3	5	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:39929663C>T	ENST00000303538.8	-	3	799	c.260G>A	c.(259-261)cGt>cAt	p.R87H	PDS5A_ENST00000503396.1_Missense_Mutation_p.R87H	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	87					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TACAAGGAGACGCACATCTTT	0.418													8	30					0	0	0	0	T	39929663	C	T	39929663	3	4	356	1	0	0	0	0	1	0	0	0	11762	536	19	1	3910	1	PDS5A	4	39929663	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	29906693	39929663	151224613	136	66850											
NSUN7	79730	broad.mit.edu	37	chr4	40778128	40778128	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaaatatggatgatgatgtCttaatggtcaatacaggctc	13	14	9	5	0	2	2	1	2	1	0	3	3	2	3	0	3	1	1	0	3	6	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:40778128C>G	ENST00000381782.2	+	7	1383	c.888C>G	c.(886-888)gtC>gtG	p.V296V	NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Silent_p.V296V	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATGATGATGTCTTAATGGTCA	0.338													13	41					0	0	0	0	G	40778128	C	G	40778128	2	3	356	1	0	0	0	0	0	0	0	1	10754	900	32	2		2	NSUN7	4	40778128	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	848465	40778128	150376148	137	66851											
KCTD8	386617	broad.mit.edu	37	chr4	44450422	44450422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactacttcagggaagggcGagggtgcgcagggccccggg	7	4	18	12	3	1	0	1	0	0	0	1	2	1	1	3	5	2	1	3	5	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:44450422G>A	ENST00000360029.3	-	1	402	c.119C>T	c.(118-120)tCg>tTg	p.S40L		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	40						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S40L(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						AGGGAAGGGCGAGGGTGCGCA	0.677										HNSCC(17;0.042)			10	18					0	0	0	0	A	44450422	G	A	44450422	3	1	356	1	0	0	0	0	1	0	0	0	8168	1059	37	1	1310	1	KCTD8	4	44450422	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	3672294	44450422	146703854	138	66852											
GABRG1	2565	broad.mit.edu	37	chr4	46060624	46060624	+	Frame_Shift_Del	DEL	T	T	-																															tccacttatactcaatttcaTttttagggtatccatctata																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:46060624delT	ENST00000295452.4	-	6	808	c.641delA	c.(640-642)atfs	p.N214fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	214					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTCAATTTCATTTTTAGGGTA	0.353													14	18	---	---	---	---					-	46060624	T	-	46060624	7	5	356	1	0	1	0	1	0	0	0	0	6219	1493	52	0	772	0	GABRG1	4	46060624	Frame_Shift_Del	DEL	T	TCGA-CV-A6K1-01A-11D-A31L-08	1610202	46060624	145093652	139	66853											
YTHDC1	91746	broad.mit.edu	37	chr4	69179981	69179981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacggggtctacttctccGgccactgacaacagcttgtg	7	11	10	13	2	3	1	1	1	2	0	4	1	3	1	2	3	3	1	2	3	2	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:69179981G>A	ENST00000344157.4	-	17	2355	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	YTHDC1_ENST00000579690.1_Missense_Mutation_p.R682W|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R656W	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	674	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CTACTTCTCCGGCCACTGACA	0.483													17	26					0	0	0	0	A	69179981	G	A	69179981	3	1	356	1	0	0	0	0	1	0	0	0	17592	1115	39	1	167	1	YTHDC1	4	69179981	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	23119357	69179981	121974295	140	66854											
NPFFR2	10886	broad.mit.edu	37	chr4	73013438	73013438	+	Frame_Shift_Del	DEL	A	A	-																															atttcaaaaccctcatggggAaaccttgctttataggaaaa																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:73013438delA	ENST00000308744.6	+	4	1576	c.1478delA	c.(1477-1479)gafs	p.E493fs	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Frame_Shift_Del_p.E391fs|NPFFR2_ENST00000395999.1_Frame_Shift_Del_p.E394fs	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	493					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)			CCTCATGGGGAAACCTTGCTT	0.378													37	78	---	---	---	---					-	73013438	A	-	73013438	7	5	356	1	0	1	0	1	0	0	0	0	10648	246	9	0	1498	0	NPFFR2	4	73013438	Frame_Shift_Del	DEL	A	TCGA-CV-A6K1-01A-11D-A31L-08	3833457	73013438	118140838	141	66855											
PARM1	25849	broad.mit.edu	37	chr4	75938152	75938152	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccagcacccaacccacTggagctccaactgcaccaga	12	4	8	17	0	0	2	0	1	0	1	1	3	1	3	5	1	5	3	5	1	2	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:75938152T>C	ENST00000307428.7	+	2	773	c.561T>C	c.(559-561)acT>acC	p.T187T	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	187					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCAACCCACTGGAGCTCCAA	0.567													106	171					0	0	0	0	C	75938152	T	C	75938152	2	2	356	1	0	0	0	0	0	0	0	1	11523	1567	55	5		5	PARM1	4	75938152	Silent	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	2924714	75938152	115216124	142	66856											
NUP54	53371	broad.mit.edu	37	chr4	77057545	77057545	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaggagcttgtgtaggctGactgaagagaccacctaatg	11	9	14	7	0	0	3	0	2	0	1	0	5	0	4	2	3	1	4	2	3	4	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:77057545G>A	ENST00000264883.3	-	4	456	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000514987.1_Nonsense_Mutation_p.Q58*|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000458189.2_Intron	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	106	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TGTGTAGGCTGACTGAAGAGA	0.418													18	54					0	0	0	0	A	77057545	G	A	77057545	4	1	356	1	0	0	0	0	0	1	0	0	10838	1299	45	2	1243	2	NUP54	4	77057545	Nonsense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1119393	77057545	114096731	143	66857											
WDFY3	23001	broad.mit.edu	37	chr4	85645602	85645602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttagcaatagtgtctTccccatgctctggttcttgc	6	16	8	11	0	3	1	0	1	3	0	4	1	4	1	2	1	3	3	2	1	3	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:85645602T>C	ENST00000322366.6	-	45	7774	c.7367A>G	c.(7366-7368)gAa>gGa	p.E2456G	WDFY3_ENST00000295888.4_Missense_Mutation_p.E2473G			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2473						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATAGTGTCTTCCCCATGCTC	0.428													55	122					0	0	0	0	C	85645602	T	C	85645602	3	2	356	1	0	0	0	0	1	0	0	0	17366	1783	62	5	3254	5	WDFY3	4	85645602	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	8588057	85645602	105508674	144	66858											
WDFY3	23001	broad.mit.edu	37	chr4	85664916	85664916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaatgtaagtttgaaattCtttttgctgagttcttgtag	11	18	8	4	0	2	2	0	2	2	0	2	2	2	2	0	0	1	5	0	0	5	8			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:85664916C>T	ENST00000322366.6	-	37	6417	c.6010G>A	c.(6010-6012)Gaa>Aaa	p.E2004K	WDFY3_ENST00000295888.4_Missense_Mutation_p.E2004K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2004						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTTTGAAATTCTTTTTGCTGA	0.323													22	62					0	0	0	0	T	85664916	C	T	85664916	3	4	356	1	0	0	0	0	1	0	0	0	17366	922	32	2	4698	2	WDFY3	4	85664916	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	19314	85664916	105489360	145	66859											
UNC5C	8633	broad.mit.edu	37	chr4	96171725	96171725	+	Frame_Shift_Del	DEL	G	G	-																															atttgcagtatcagagagtcGggcctgctttatgatgaggt																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:96171725delG	ENST00000453304.1	-	5	1036	c.688delC	c.(688-690)gafs	p.R230fs	UNC5C_ENST00000504962.1_Frame_Shift_Del_p.R230fs|UNC5C_ENST00000506749.1_Frame_Shift_Del_p.R230fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	230	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCAGAGAGTCGGGCCTGCTTT	0.398													52	166	---	---	---	---					-	96171725	G	-	96171725	7	5	356	1	0	1	0	1	0	0	0	0	17089	1124	39	0	2155	0	UNC5C	4	96171725	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	10506809	96171725	94982551	146	66860											
LRIT3	345193	broad.mit.edu	37	chr4	110791242	110791242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcattccagctccaccAaggtgggaaaagaaatttaa	15	8	9	9	1	1	1	1	0	0	1	3	3	3	2	3	2	1	1	3	2	5	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:110791242A>G	ENST00000327908.3	+	4	1552	c.788A>G	c.(787-789)cAa>cGa	p.Q263R	LRIT3_ENST00000379920.3_Missense_Mutation_p.Q401R|LRIT3_ENST00000409621.2_Missense_Mutation_p.Q263R|LRIT3_ENST00000594814.1_Missense_Mutation_p.Q446R			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	401	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CAGCTCCACCAAGGTGGGAAA	0.463													29	57					0	0	0	0	G	110791242	A	G	110791242	3	3	356	1	0	0	0	0	1	0	0	0	9013	130	5	5	1212	5	LRIT3	4	110791242	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	14619517	110791242	80363034	147	66861											
ABCE1	6059	broad.mit.edu	37	chr4	146041093	146041093	+	Frame_Shift_Del	DEL	T	T	-																															cttcccaacaggcataaacaTttttttggatggctatgttc																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:146041093delT	ENST00000296577.4	+	11	1447	c.932delT	c.(931-933)atfs	p.I311fs	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	311	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GGCATAAACATTTTTTTGGAT	0.358													13	31	---	---	---	---					-	146041093	T	-	146041093	7	5	356	1	0	1	0	1	0	0	0	0	64	1493	52	0	970	0	ABCE1	4	146041093	Frame_Shift_Del	DEL	T	TCGA-CV-A6K1-01A-11D-A31L-08	35249851	146041093	45113183	148	66862											
FBXW7	55294	broad.mit.edu	37	chr4	153245424	153245424	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagacaagaatattgtctttGagttccattccacttgttaa	12	15	7	7	0	1	3	0	1	1	2	3	4	3	3	2	0	0	2	2	0	4	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:153245424G>A	ENST00000281708.4	-	11	2996	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L	FBXW7_ENST00000296555.5_Silent_p.L471L|FBXW7_ENST00000263981.5_Silent_p.L509L|FBXW7_ENST00000393956.3_Silent_p.L413L|FBXW7_ENST00000603548.1_Silent_p.L589L|FBXW7_ENST00000603841.1_Silent_p.L589L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	589					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TATTGTCTTTGAGTTCCATTC	0.408			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								13	34					0	0	0	0	A	153245424	G	A	153245424	2	1	356	1	0	0	0	0	0	0	0	1	5814	1277	45	2		2	FBXW7	4	153245424	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	7204331	153245424	37908852	149	66863											
PDGFC	56034	broad.mit.edu	37	chr4	157694008	157694008	+	Frame_Shift_Del	DEL	G	G	-																															ggtccagtggcaaagctgaaGggggtagcactgaaggactc																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:157694008delG	ENST00000502773.1	-	4	1023	c.533delC	c.(532-534)ctfs	p.P178fs	PDGFC_ENST00000422544.2_Frame_Shift_Del_p.P178fs|PDGFC_ENST00000542208.1_Frame_Shift_Del_p.P23fs|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Frame_Shift_Del_p.P15fs	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	178					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CAAAGCTGAAGGGGGTAGCAC	0.413													31	72	---	---	---	---					-	157694008	G	-	157694008	7	5	356	1	0	1	0	1	0	0	0	0	11730	1000	35	0	516	0	PDGFC	4	157694008	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	4448584	157694008	33460268	150	66864											
FAM198B	51313	broad.mit.edu	37	chr4	159091486	159091487	+	In_Frame_Ins	INS	-	-	GCT																															ccaagcgcatggaaagacacINSgctgctgctgctgctgtcca																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:159091486_159091487insGCT	ENST00000393807.5	-	3	1329_1330	c.923_924insAGC	c.(922-924)gtg>gAGCtg	p.308_308V>EL	FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000589306.1_Intron	NM_001031700.2	NP_001026870.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	308						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGGAAAGACACGCTGCTGCTGC	0.455													10	31	---	---	---	---					GCT	159091487	-	GCT	159091486	7	5	356	1	0	1	1	0	0	0	0	0	5572	523	19	0	752	0	FAM198B	4	159091486	In_Frame_Ins	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	1397478	159091486	32062790	151	66865											
SH3RF1	57630	broad.mit.edu	37	chr4	170042112	170042112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctctagttcatcctctttccGaggagtgtatggatatatag	9	15	9	8	1	3	0	1	0	2	0	5	3	5	2	2	2	0	2	2	2	5	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:170042112G>C	ENST00000284637.9	-	8	1716	c.1375C>G	c.(1375-1377)Cgg>Ggg	p.R459G	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	459	Interaction with AKT2 (By similarity).|SH3 3.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCTCTTTCCGAGGAGTGTAT	0.403													19	48					0	0	0	0	C	170042112	G	C	170042112	3	2	356	1	0	0	0	0	1	0	0	0	14346	1057	37	3	1311	3	SH3RF1	4	170042112	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	10950626	170042112	21112164	152	66866											
IRF2	3660	broad.mit.edu	37	chr4	185320135	185320135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgctgaccggctgctcgtCgctctcagtggtcacctcta	5	11	10	15	3	3	1	2	1	2	0	6	1	3	1	2	2	2	4	2	2	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:185320135C>T	ENST00000393593.3	-	7	835	c.628G>A	c.(628-630)Gac>Aac	p.D210N		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	210					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GGCTGCTCGTCGCTCTCAGTG	0.567													36	69					0	0	0	0	T	185320135	C	T	185320135	3	4	356	1	0	0	0	0	1	0	0	0	7881	884	31	1	433	1	IRF2	4	185320135	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	15278023	185320135	5834141	153	66867											
FAT1	2195	broad.mit.edu	37	chr4	187549880	187549880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttgatgtagaaaactgaGgacgatggtcatttgtgtct	11	14	11	5	1	2	3	1	2	1	1	2	5	2	4	0	2	1	1	0	2	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:187549880G>C	ENST00000441802.2	-	8	4570	c.4361C>G	c.(4360-4362)cCt>cGt	p.P1454R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1454	Cadherin 12.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGAAAACTGAGGACGATGGTC	0.333										HNSCC(5;0.00058)			7	21					0	0	0	0	C	187549880	G	C	187549880	3	2	356	1	0	0	0	0	1	0	0	0	5734	1000	35	4	9485	4	FAT1	4	187549880	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2229745	187549880	3604396	154	66868											
FAT1	2195	broad.mit.edu	37	chr4	187629214	187629214	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcaatagcagaaacagTggttatttgctctcccacgc	11	11	8	11	1	2	1	1	0	1	1	3	1	2	1	1	1	4	4	1	1	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:187629214T>A	ENST00000441802.2	-	2	1977	c.1768A>T	c.(1768-1770)Act>Tct	p.T590S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	590	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCAGAAACAGTGGTTATTTGC	0.393										HNSCC(5;0.00058)			8	22					0	0	0	0	A	187629214	T	A	187629214	3	1	356	1	0	0	0	0	1	0	0	0	5734	1696	59	5	12102	5	FAT1	4	187629214	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	79334	187629214	3525062	155	66869											
ADAMTS16	170690	broad.mit.edu	37	chr5	5232626	5232626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtcgcctctgcaccaaccCcaagtaagtatgccttgacc	10	8	8	15	1	1	1	0	1	1	0	2	2	1	1	6	0	3	3	6	0	4	3	rs10615436		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:5232626C>T	ENST00000274181.7	+	12	1985	c.1847C>T	c.(1846-1848)cCc>cTc	p.P616L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	616	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCACCAACCCCAAGTAAGTA	0.527													27	67					0	0	0	0	T	5232626	C	T	5232626	3	4	356	1	0	0	0	0	1	0	0	0	261	623	22	4	1893	4	ADAMTS16	5	5232626	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08		5232626	175682634	156	66870											
FAM105A	54491	broad.mit.edu	37	chr5	14601329	14601329	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttatctttcaggtggattGgatatctgcagagaaaattc	11	16	9	5	0	3	1	1	0	2	1	4	4	3	3	0	3	1	1	0	3	4	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:14601329G>T	ENST00000274217.3	+	3	352	c.232G>T	c.(232-234)Gga>Tga	p.G78*		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	78										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CAGGTGGATTGGATATCTGCA	0.308													10	31					3.86212e-05	4.01922e-05	1	0	T	14601329	G	T	14601329	4	4	356	1	0	0	0	0	0	1	0	0	5428	1349	47	4	242	4	FAM105A	5	14601329	Nonsense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	9368703	14601329	166313931	157	66871											
ADAMTS12	81792	broad.mit.edu	37	chr5	33596151	33596151	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctttatgcaatgggcagTttggcggcggatacctgggg	6	12	15	8	2	1	0	0	0	1	0	1	1	1	1	1	6	2	3	1	6	3	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:33596151T>C	ENST00000504830.1	-	17	2877	c.2542A>G	c.(2542-2544)Act>Gct	p.T848A	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T763A	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	848	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAATGGGCAGTTTGGCGGCGG	0.522										HNSCC(64;0.19)			23	65					0	0	0	0	C	33596151	T	C	33596151	3	2	356	1	0	0	0	0	1	0	0	0	257	1725	60	5	2274	5	ADAMTS12	5	33596151	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	18994822	33596151	147319109	158	66872											
CARD6	84674	broad.mit.edu	37	chr5	40852583	40852583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgctttgtgccaccatGctgtgttcagatagctcttt	6	15	10	10	1	2	1	1	0	1	1	2	2	2	1	2	0	4	4	2	0	1	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:40852583G>A	ENST00000254691.5	+	3	1348	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	383					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTGCCACCATGCTGTGTTCAG	0.453													19	40					0	0	0	0	A	40852583	G	A	40852583	3	1	356	1	0	0	0	0	1	0	0	0	2675	1319	46	4	1159	4	CARD6	5	40852583	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	7256432	40852583	140062677	159	66873											
BHMT	635	broad.mit.edu	37	chr5	78426800	78426800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcggatagcctcaggccGgccatacaacccttcaatgt	9	10	8	14	2	3	0	2	0	1	0	4	1	3	1	4	3	3	0	4	3	4	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:78426800G>A	ENST00000274353.5	+	8	1189	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	BHMT_ENST00000524080.1_Missense_Mutation_p.R208Q|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	361					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GCCTCAGGCCGGCCATACAAC	0.532													77	87					0	0	0	0	A	78426800	G	A	78426800	3	1	356	1	0	0	0	0	1	0	0	0	1430	1116	39	1	1112	1	BHMT	5	78426800	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	37574217	78426800	102488460	160	66874											
JMY	133746	broad.mit.edu	37	chr5	78612017	78612017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatccttcacacttctacccGatacagaccctctaacacgg	12	9	4	16	2	3	1	1	0	2	1	4	2	4	1	3	1	3	0	3	1	4	5	rs34067120		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:78612017G>A	ENST00000396137.4	+	10	3316	c.2854G>A	c.(2854-2856)Gat>Aat	p.D952N	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	952					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ACTTCTACCCGATACAGACCC	0.418													12	19					0	0	0	0	A	78612017	G	A	78612017	3	1	356	1	0	0	0	0	1	0	0	0	8010	1058	37	1	2892	1	JMY	5	78612017	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	185217	78612017	102303243	161	66875											
RASA1	5921	broad.mit.edu	37	chr5	86564680	86564680	+	Frame_Shift_Del	DEL	C	C	-																															gcggcggttttccccctctgCcccctcccccttacctgccc																								rs145963639		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:86564680delC	ENST00000274376.6	+	1	976	c.412delC	c.(412-414)ccfs	p.P141fs		NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	141	Poly-Pro.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TCCCCCTCTGCCCCCTCCCCC	0.622													14	21	---	---	---	---					-	86564680	C	-	86564680	7	5	356	1	0	1	0	1	0	0	0	0	13142	739	26	0	414	0	RASA1	5	86564680	Frame_Shift_Del	DEL	C	TCGA-CV-A6K1-01A-11D-A31L-08	7952663	86564680	94350580	162	66876											
APC	324	broad.mit.edu	37	chr5	112151205	112151205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttagggttcaactacacGaatggaccatgaaacagcca	14	10	8	9	1	1	1	1	1	0	0	1	3	1	2	2	2	4	1	2	2	5	5	rs149154604		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:112151205G>A	ENST00000457016.1	+	9	1228	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	APC_ENST00000508376.2_Missense_Mutation_p.R283Q|APC_ENST00000257430.4_Missense_Mutation_p.R283Q			P25054	APC_HUMAN	adenomatous polyposis coli	283	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAACTACACGAATGGACCAT	0.383		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			24	52					0	0	0	0	A	112151205	G	A	112151205	3	1	356	1	0	0	0	0	1	0	0	0	764	1058	37	1	878	1	APC	5	112151205	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	25586525	112151205	68764055	163	66877											
CDO1	1036	broad.mit.edu	37	chr5	115146921	115146921	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgaccatctcattggAttttttgtcaggccaggcaa	8	15	8	10	0	3	1	2	1	2	0	4	2	3	2	2	3	0	1	2	3	1	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:115146921A>T	ENST00000250535.4	-	3	896	c.340T>A	c.(340-342)Tcc>Acc	p.S114T	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	114					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	ATCTCATTGGATTTTTTGTCA	0.403													56	145					0	0	0	0	T	115146921	A	T	115146921	3	4	356	1	0	0	0	0	1	0	0	0	3198	333	12	5	274	5	CDO1	5	115146921	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	2995716	115146921	65768339	164	66878											
ZNF608	57507	broad.mit.edu	37	chr5	123982862	123982862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgactgagccagggcaGgatgtctttgtgtgatcacc	10	10	13	8	0	2	3	1	3	1	0	2	4	2	4	2	2	1	1	2	2	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:123982862G>T	ENST00000306315.5	-	4	3650	c.3215C>A	c.(3214-3216)cCt>cAt	p.P1072H	ZNF608_ENST00000504926.1_Missense_Mutation_p.P645H	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1072						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGCCAGGGCAGGATGTCTTTG	0.478													20	36					1.55795e-14	1.788e-14	1	0	T	123982862	G	T	123982862	3	4	356	1	0	0	0	0	1	0	0	0	18129	1000	35	4	1347	4	ZNF608	5	123982862	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	8835941	123982862	56932398	165	66879											
ADAMTS19	171019	broad.mit.edu	37	chr5	129019947	129019947	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacaagctgggaagattgCgatgccacttgtggaggagg	11	7	15	8	1	0	1	0	0	0	1	0	5	0	4	1	4	3	1	1	4	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:129019947C>T	ENST00000274487.4	+	18	2926	c.2781C>T	c.(2779-2781)tgC>tgT	p.C927C	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	927	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGGAAGATTGCGATGCCACTT	0.403													17	30					0	0	0	0	T	129019947	C	T	129019947	2	4	356	1	0	0	0	0	0	0	0	1	264	776	27	1		1	ADAMTS19	5	129019947	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	5037085	129019947	51895313	166	66880											
PKD2L2	27039	broad.mit.edu	37	chr5	137228188	137228188	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgacttttgggatggtaaaCccacatatgtattacttaaa	13	14	8	6	0	0	1	0	1	0	0	0	2	0	2	1	2	2	2	1	2	7	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:137228188C>T	ENST00000508638.1	+	3	208	c.153C>T	c.(151-153)aaC>aaT	p.N51N	PKD2L2_ENST00000290431.5_Silent_p.N51N|PKD2L2_ENST00000508883.1_Silent_p.N51N|PKD2L2_ENST00000502810.1_Silent_p.N51N|PKD2L2_ENST00000350250.4_Silent_p.N17N	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	51						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGATGGTAAACCCACATATGT	0.308													11	32					0	0	0	0	T	137228188	C	T	137228188	2	4	356	1	0	0	0	0	0	0	0	1	12040	506	18	4		4	PKD2L2	5	137228188	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	8208241	137228188	43687072	167	66881											
DNAJC18	202052	broad.mit.edu	37	chr5	138760756	138760756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgtcggtgccgtcgacGgtaatagtaagtgtcatctg	8	12	12	9	4	3	0	2	0	1	0	5	1	3	0	1	2	1	2	1	2	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:138760756G>T	ENST00000302060.5	-	5	687	c.607C>A	c.(607-609)Cgt>Agt	p.R203S		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	203					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCCGTCGACGGTAATAGTAA	0.463													60	120					3.30712e-30	4.11047e-30	1	0	T	138760756	G	T	138760756	3	4	356	1	0	0	0	0	1	0	0	0	4673	1116	39	3	485	3	DNAJC18	5	138760756	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1532568	138760756	42154504	168	66882											
CXXC5	51523	broad.mit.edu	37	chr5	139060660	139060660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcatctcccgctgatgagCgaggcgggtgctggcctgcc	5	7	16	13	3	1	2	0	2	1	0	2	4	1	2	3	3	4	3	3	3	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:139060660C>T	ENST00000302517.3	+	2	1266	c.552C>T	c.(550-552)agC>agT	p.S184S	CXXC5_ENST00000511048.1_Silent_p.S184S|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	184					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGATGAGCGAGGCGGGTG	0.652													14	36					0	0	0	0	T	139060660	C	T	139060660	2	4	356	1	0	0	0	0	0	0	0	1	4131	767	27	1		1	CXXC5	5	139060660	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	299904	139060660	41854600	169	66883											
PCDHA3	56145	broad.mit.edu	37	chr5	140181353	140181353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgatgaggaaattaaaTcccttggactcgtgttgaaa	15	11	10	5	1	0	3	0	3	0	0	2	6	1	5	1	2	0	1	1	2	5	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140181353T>C	ENST00000522353.2	+	1	571	c.571T>C	c.(571-573)Tcc>Ccc	p.S191P	PCDHA3_ENST00000532566.2_Missense_Mutation_p.S191P|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAATTAAATCCCTTGGACT	0.363													25	70					0	0	0	0	C	140181353	T	C	140181353	3	2	356	1	0	0	0	0	1	0	0	0	11596	1435	50	5	573	5	PCDHA3	5	140181353	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	1120693	140181353	40733907	170	66884											
PCDHA5	56143	broad.mit.edu	37	chr5	140202219	140202219	+	Frame_Shift_Del	DEL	G	G	-																															ttagtaatcttgttcttgacGatgtaaagtccaaatttata																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140202219delG	ENST00000529859.1	+	1	859	c.859delG	c.(859-861)atfs	p.D287fs	PCDHA5_ENST00000378126.3_Frame_Shift_Del_p.D287fs|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Frame_Shift_Del_p.D287fs|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTTGACGATGTAAAGTC	0.318													9	37	---	---	---	---					-	140202219	G	-	140202219	7	5	356	1	0	1	0	1	0	0	0	0	11598	1058	37	0	861	0	PCDHA5	5	140202219	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	20866	140202219	40713041	171	66885											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308546	140308546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttagtaattgccttggcttGtatttcctttttatttctgg	5	23	7	6	0	1	0	0	0	1	0	2	0	2	0	2	2	1	3	2	2	4	12			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140308546G>T	ENST00000253807.2	+	1	2069	c.2069G>T	c.(2068-2070)tGt>tTt	p.C690F	PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.C690F|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTGGCTTGTATTTCCTTT	0.483													38	114					2.2871e-25	2.81983e-25	1	0	T	140308546	G	T	140308546	3	4	356	1	0	0	0	0	1	0	0	0	11603	1377	48	4	2071	4	PCDHAC1	5	140308546	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	106327	140308546	40606714	172	66886											
PCDHB3	56132	broad.mit.edu	37	chr5	140482180	140482180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcaaggacaatggcgaGcctccgcgctcggccaccgc	7	5	13	16	5	1	0	1	0	0	0	3	2	2	1	4	4	1	1	4	4	2	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140482180G>C	ENST00000231130.2	+	1	1947	c.1947G>C	c.(1945-1947)gaG>gaC	p.E649D		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		649	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATGGCGAGCCTCCGCGCT	0.716													31	73					0	0	0	0	C	140482180	G	C	140482180	3	2	356	1	0	0	0	0	1	0	0	0	11614	962	34	4	1949	4	PCDHB3	5	140482180	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	173634	140482180	40433080	173	66887											
PCDHB8	56128	broad.mit.edu	37	chr5	140559652	140559652	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttccggaggctgccccAgcccagggccaggccgactc	5	4	13	19	3	0	0	0	0	0	0	2	2	1	1	7	4	2	2	7	4	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140559652A>G	ENST00000239444.2	+	1	2282	c.2037A>G	c.(2035-2037)ccA>ccG	p.P679P		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		679					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCTGCCCCAGCCCAGGGCC	0.677													7	89					0	0	0	0	G	140559652	A	G	140559652	2	3	356	1	0	0	0	0	0	0	0	1	11619	175	7	5		5	PCDHB8	5	140559652	Silent	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	77472	140559652	40355608	174	66888											
PCDHB16	57717	broad.mit.edu	37	chr5	140563815	140563815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgacaactcgcccttcGtgctgtacccgctgcagaac	9	7	8	17	4	0	1	0	0	0	1	2	2	0	1	3	0	6	4	3	0	4	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140563815G>A	ENST00000361016.2	+	1	2836	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		561	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGCTGTACCC	0.716													31	19					0	0	0	0	A	140563815	G	A	140563815	3	1	356	1	0	0	0	0	1	0	0	0	11612	1145	40	1	1683	1	PCDHB16	5	140563815	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	4163	140563815	40351445	175	66889											
PCDHB12	56124	broad.mit.edu	37	chr5	140590001	140590001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctggtctccatcaacGcggacaacggccacctgttt	7	9	8	17	3	2	0	1	0	1	0	4	1	3	1	5	3	2	1	5	3	2	1	rs138442827	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140590001G>A	ENST00000239450.2	+	1	1711	c.1522G>A	c.(1522-1524)Gcg>Acg	p.A508T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A171T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		508	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCATCAACGCGGACAACGG	0.677													76	179					0	0	0	0	A	140590001	G	A	140590001	3	1	356	1	0	0	0	0	1	0	0	0	11608	1087	38	1	1524	1	PCDHB12	5	140590001	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	26186	140590001	40325259	176	66890											
PCDHB13	56123	broad.mit.edu	37	chr5	140594607	140594607	+	Frame_Shift_Del	DEL	A	A	-																															ttgacaggagaaattgaactAaaaaaacaactcgatttcga																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140594607delA	ENST00000341948.4	+	1	1099	c.912delA	c.(910-912)ctfs	p.L304fs		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		304	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATTGAACTAAAAAAACAAC	0.388													46	101	---	---	---	---					-	140594607	A	-	140594607	7	5	356	1	0	1	0	1	0	0	0	0	11609	349	13	0	914	0	PCDHB13	5	140594607	Frame_Shift_Del	DEL	A	TCGA-CV-A6K1-01A-11D-A31L-08	4606	140594607	40320653	177	66891											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744051	140744051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcaacatagccaaggacCttgggctggagccccaggag	10	5	14	12	1	0	0	0	0	0	0	1	3	0	3	4	5	3	2	4	5	3	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140744051C>A	ENST00000518069.1	+	1	154	c.154C>A	c.(154-156)Ctt>Att	p.L52I	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAAGGACCTTGGGCTGGA	0.652													36	72					5.04308e-16	5.90926e-16	1	0	A	140744051	C	A	140744051	3	1	356	1	0	0	0	0	1	0	0	0	11628	681	24	4	156	4	PCDHGA5	5	140744051	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	149444	140744051	40171209	178	66892											
ADRA1B	147	broad.mit.edu	37	chr5	159398909	159398909	+	Frame_Shift_Del	DEL	C	C	-																															ccttgttctccaccctgaagCcccccgacgccgtgttcaag																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:159398909delC	ENST00000306675.3	+	2	1096	c.973delC	c.(973-975)ccfs	p.P326fs		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	326					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	p.D327fs*134(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CACCCTGAAGCCCCCCGACGC	0.587													35	67	---	---	---	---					-	159398909	C	-	159398909	7	5	356	1	0	1	0	1	0	0	0	0	335	739	26	0	979	0	ADRA1B	5	159398909	Frame_Shift_Del	DEL	C	TCGA-CV-A6K1-01A-11D-A31L-08	18654858	159398909	21516351	179	66893											
F12	2161	broad.mit.edu	37	chr5	176829388	176829388	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacagcccgatccccagcTgatgatgccttgcagggtga	9	7	11	14	1	0	3	0	3	0	0	1	4	1	3	5	1	4	2	5	1	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:176829388T>C	ENST00000253496.3	-	14	1801	c.1753A>G	c.(1753-1755)Agc>Ggc	p.S585G		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	585	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATCCCCAGCTGATGATGCCT	0.632									Hereditary Angioedema				7	29					0	0	0	0	C	176829388	T	C	176829388	3	2	356	1	0	0	0	0	1	0	0	0	5377	1580	55	5	98	5	F12	5	176829388	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	17430479	176829388	4085872	180	66894											
DOK3	79930	broad.mit.edu	37	chr5	176936826	176936826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcagctgggcacgcgcgtCtgatcgcagtctggctcccc	4	9	13	15	4	3	1	1	1	2	0	5	1	4	1	2	2	1	5	2	2	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:176936826C>T	ENST00000357198.4	-	1	32	c.28G>A	c.(28-30)Gac>Aac	p.D10N	DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000501403.2_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	10						cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCACGCGCGTCTGATCGCAGT	0.711													11	45					0	0	0	0	T	176936826	C	T	176936826	3	4	356	1	0	0	0	0	1	0	0	0	4734	913	32	2	1838	2	DOK3	5	176936826	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	107438	176936826	3978434	181	66895											
B4GALT7	11285	broad.mit.edu	37	chr5	177031391	177031391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcactgggaagaagacGcatcctggggcccccaccgc	9	4	13	15	2	0	3	0	1	0	2	1	4	1	4	4	3	1	2	4	3	2	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:177031391G>A	ENST00000029410.5	+	2	373	c.262G>A	c.(262-264)Gca>Aca	p.A88T		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	88					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAGAAGACGCATCCTGGGG	0.711													12	25					0	0	0	0	A	177031391	G	A	177031391	3	1	356	1	0	0	0	0	1	0	0	0	1280	1087	38	1	268	1	B4GALT7	5	177031391	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	94565	177031391	3883869	182	66896											
MAML1	9794	broad.mit.edu	37	chr5	179192463	179192463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctctgggagttgccatctCttccaatggactgcctccag	6	11	9	15	0	2	0	0	0	2	0	5	2	4	2	5	2	2	1	5	2	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:179192463C>T	ENST00000292599.3	+	2	715	c.452C>T	c.(451-453)tCt>tTt	p.S151F	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	151					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGCCATCTCTTCCAATGGA	0.612													20	52					0	0	0	0	T	179192463	C	T	179192463	3	4	356	1	0	0	0	0	1	0	0	0	9274	913	32	2	458	2	MAML1	5	179192463	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2161072	179192463	1722797	183	66897											
PRPF4B	8899	broad.mit.edu	37	chr6	4049263	4049263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttcagagtgctcgtcttcGggccgctggcattggaaaag	8	11	13	9	3	2	1	1	0	1	1	4	2	2	2	1	3	1	3	1	3	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:4049263G>A	ENST00000337659.6	+	8	2049	c.1949G>A	c.(1948-1950)cGg>cAg	p.R650Q	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R636Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	650						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	p.R139L(1)|p.R650L(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GCTCGTCTTCGGGCCGCTGGC	0.408													15	26					0	0	0	0	A	4049263	G	A	4049263	3	1	356	1	0	0	0	0	1	0	0	0	12653	1116	39	1	1979	1	PRPF4B	6	4049263	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08		4049263	167065804	184	66898											
F13A1	2162	broad.mit.edu	37	chr6	6197471	6197471	+	Frame_Shift_Del	DEL	G	G	-																															tttaccatcgctattttcctGgggggtgctgtccacagctt																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:6197471delG	ENST00000264870.3	-	9	1466	c.1201delC	c.(1201-1203)agfs	p.Q401fs		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	401					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.Q401fs*4(1)		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)	CTATTTTCCTGGGGGGTGCTG	0.478													29	47	---	---	---	---					-	6197471	G	-	6197471	7	5	356	1	0	1	0	1	0	0	0	0	5378	1357	47	0	1025	0	F13A1	6	6197471	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	2148208	6197471	164917596	185	66899											
KIAA0319	9856	broad.mit.edu	37	chr6	24566860	24566860	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggccatcccggatccacaGataggacacaattctttggt	10	10	9	12	1	1	1	0	0	1	1	3	3	3	3	3	4	0	0	3	4	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:24566860G>A	ENST00000535378.1	-	15	2872	c.2230C>T	c.(2230-2232)Ctg>Ttg	p.L744L	KIAA0319_ENST00000378214.3_Silent_p.L753L|KIAA0319_ENST00000543707.1_Silent_p.L753L|KIAA0319_ENST00000430948.2_Silent_p.L708L|KIAA0319_ENST00000537886.1_Silent_p.L753L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	753	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CGGATCCACAGATAGGACACA	0.488													27	66					0	0	0	0	A	24566860	G	A	24566860	2	1	356	1	0	0	0	0	0	0	0	1	8219	933	33	2		2	KIAA0319	6	24566860	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	18369389	24566860	146548207	186	66900											
SLC17A1	6568	broad.mit.edu	37	chr6	25801139	25801140	+	Frame_Shift_Ins	INS	-	-	A																															gcttaaggatcaatccagtcINSaaagtggaagcaattagtcc																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:25801139_25801140insA	ENST00000244527.4	-	11	1362_1363	c.1247_1248insT	c.(1246-1248)tacfs	p.Y416fs	SLC17A1_ENST00000468082.1_Frame_Shift_Ins_p.Y362fs|SLC17A1_ENST00000476801.1_Frame_Shift_Ins_p.Y416fs|SLC17A1_ENST00000427328.1_Frame_Shift_Ins_p.Y362fs	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	416					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TCAATCCAGTCAAAGTGGAAGC	0.292													15	40	---	---	---	---					A	25801140	-	A	25801139	7	5	356	1	0	1	1	0	0	0	0	0	14504	825	29	0	163	0	SLC17A1	6	25801139	Frame_Shift_Ins	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	1234279	25801139	145313928	187	66901											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056117	26056117	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggcagctttcttgggcttCgcaaccttggccttctttgg	3	16	11	11	1	2	0	0	0	2	0	3	0	2	0	2	4	2	4	2	4	1	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:26056117C>T	ENST00000343677.2	-	1	582	c.540G>A	c.(538-540)gcG>gcA	p.A180A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	180					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A180A(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGGGCTTCGCAACCTTGG	0.542													59	117					0	0	0	0	T	26056117	C	T	26056117	2	4	356	1	0	0	0	0	0	0	0	1	7174	871	31	1		1	HIST1H1C	6	26056117	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	254978	26056117	145058950	188	66902											
BTN2A2	10385	broad.mit.edu	37	chr6	26385404	26385404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgtgtataagggtgggAgagagagaacagaggagcag	13	8	18	2	0	0	3	0	0	0	3	0	7	0	5	0	3	2	3	0	3	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:26385404A>G	ENST00000356709.4	+	3	367	c.256A>G	c.(256-258)Aga>Gga	p.R86G	BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.R86G|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R86G|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R86G	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	86	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TAAGGGTGGGAGAGAGAGAAC	0.537													27	50					0	0	0	0	G	26385404	A	G	26385404	3	3	356	1	0	0	0	0	1	0	0	0	1570	296	11	5	262	5	BTN2A2	6	26385404	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	329287	26385404	144729663	189	66903											
OR2J3	442186	broad.mit.edu	37	chr6	29079969	29079969	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcttatgctggttgcaTgattcaactttactttgttc	7	19	6	9	0	2	1	1	1	1	0	4	1	2	1	0	1	4	4	0	1	3	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:29079969T>C	ENST00000377169.1	+	1	302	c.302T>C	c.(301-303)aTg>aCg	p.M101T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCTGGTTGCATGATTCAACTT	0.488													59	129					0	0	0	0	C	29079969	T	C	29079969	3	2	356	1	0	0	0	0	1	0	0	0	11075	1464	51	5	304	5	OR2J3	6	29079969	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	2694565	29079969	142035098	190	66904											
HLA-G	3135	broad.mit.edu	37	chr6	29797377	29797377	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatggaaccttccagaagTgggcagctgtggtggtgcct	7	9	17	8	0	0	1	0	0	0	1	1	3	1	3	3	5	3	2	3	5	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:29797377T>C	ENST00000428701.1	+	5	980	c.802T>C	c.(802-804)Tgg>Cgg	p.W268R	HLA-G_ENST00000360323.6_Missense_Mutation_p.W268R|HLA-G_ENST00000376828.2_Missense_Mutation_p.W273R|HLA-G_ENST00000376818.3_Missense_Mutation_p.W176R|HLA-G_ENST00000376815.3_Intron	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	268	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CTTCCAGAAGTGGGCAGCTGT	0.617													56	104					0	0	0	0	C	29797377	T	C	29797377	3	2	356	1	0	0	0	0	1	0	0	0	7262	1696	59	5	816	5	HLA-G	6	29797377	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	717408	29797377	141317690	191	66905											
HLA-G	3135	broad.mit.edu	37	chr6	29797592	29797592	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcacctcctttcccaGagcagtcttccctgcccacc	6	10	4	21	0	2	1	1	0	1	1	5	1	5	1	7	0	2	1	7	0	0	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:29797592G>T	ENST00000428701.1	+	6	1073		c.e6-1		HLA-G_ENST00000360323.6_Splice_Site|HLA-G_ENST00000376828.2_Splice_Site|HLA-G_ENST00000376818.3_Splice_Site|HLA-G_ENST00000376815.3_Splice_Site	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G						antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TCCTTTCCCAGAGCAGTCTTC	0.582													25	75					7.76418e-22	9.47755e-22	1	0	T	29797592	G	T	29797592	5	4	356	1	0	0	0	0	0	0	1	0	7262	956	33	2	913	2	HLA-G	6	29797592	Splice_Site	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	215	29797592	141317475	192	66906											
HLA-B	3106	broad.mit.edu	37	chr6	31323943	31323943	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctccccactgcccctggtaCcagcgcgctccagcttgtcc	4	8	9	20	2	0	0	0	0	0	0	3	0	3	0	7	1	4	4	7	1	1	2	rs45516893		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:31323943C>T	ENST00000412585.2	-	3	648		c.e3+1			NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCCCCTGGTACCAGCGCGCTC	0.647									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				12	12					0	0	0	0	T	31323943	C	T	31323943	5	4	356	1	0	0	0	0	0	0	1	0	7246	521	18	4	488	4	HLA-B	6	31323943	Splice_Site	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1526351	31323943	139791124	193	66907											
PRRT1	80863	broad.mit.edu	37	chr6	32117130	32117130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttccgggcctcgcgtgaagCgatctcggccgacaccatgt	6	8	13	14	6	1	1	0	1	1	0	4	3	2	1	4	2	1	1	4	2	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:32117130C>T	ENST00000211413.5	-	4	914	c.790G>A	c.(790-792)Gct>Act	p.A264T	PRRT1_ENST00000375152.2_Missense_Mutation_p.A183T|PRRT1_ENST00000375150.2_Missense_Mutation_p.A183T|PRRT1_ENST00000467780.1_5'UTR	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	264					response to biotic stimulus	integral to membrane		p.A264T(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TCGCGTGAAGCGATCTCGGCC	0.652													6	14					0	0	0	0	T	32117130	C	T	32117130	3	4	356	1	0	0	0	0	1	0	0	0	12688	768	27	1	134	1	PRRT1	6	32117130	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	793187	32117130	138997937	194	66908											
PBX2	5089	broad.mit.edu	37	chr6	32154621	32154621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aataggaatctccgttgagcCcaggcatccccagaaacatg	13	7	9	12	1	1	2	0	1	1	1	3	3	2	3	4	2	2	2	4	2	4	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:32154621C>A	ENST00000375050.4	-	7	1352	c.1082G>T	c.(1081-1083)gGg>gTg	p.G361V		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	361							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TCCGTTGAGCCCAGGCATCCC	0.522													24	58					1.77063e-15	2.05126e-15	1	0	A	32154621	C	A	32154621	3	1	356	1	0	0	0	0	1	0	0	0	11564	623	22	4	222	4	PBX2	6	32154621	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	37491	32154621	138960446	195	66909											
SCUBE3	222663	broad.mit.edu	37	chr6	35196408	35196408	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacgtggatgagtgcgagCgagaggataatgcaggttgt	11	8	17	5	3	0	3	0	1	0	2	0	7	0	5	0	3	3	2	0	3	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:35196408C>A	ENST00000274938.7	+	3	226	c.226C>A	c.(226-228)Cga>Aga	p.R76R	SCUBE3_ENST00000394681.1_Silent_p.R76R	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	76	EGF-like 2; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TGAGTGCGAGCGAGAGGATAA	0.537													12	20					0.00010058	0.000103618	1	0	A	35196408	C	A	35196408	2	1	356	1	0	0	0	0	0	0	0	1	14033	760	27	3		3	SCUBE3	6	35196408	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3041787	35196408	135918659	196	66910											
DNAH8	1769	broad.mit.edu	37	chr6	38889169	38889169	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggccaagcaggaaggcCggttagcagttgctaatgct	10	8	13	10	1	0	0	0	0	0	0	0	1	0	1	3	4	4	6	3	4	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:38889169C>A	ENST00000359357.3	+	69	10152	c.9898C>A	c.(9898-9900)Cgg>Agg	p.R3300R	DNAH8_ENST00000441566.1_Silent_p.R3264R|DNAH8_ENST00000449981.2_Silent_p.R3517R					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAGGAAGGCCGGTTAGCAGT	0.458													10	18					7.48243e-07	7.98993e-07	1	0	A	38889169	C	A	38889169	2	1	356	1	0	0	0	0	0	0	0	1	4643	643	23	3		3	DNAH8	6	38889169	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3692761	38889169	132225898	197	66911											
DAAM2	23500	broad.mit.edu	37	chr6	39832810	39832810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagatgaggaaccaagtcGtggaagacctgaagacagcc	14	4	14	9	2	0	5	0	2	0	3	1	8	0	7	3	3	2	0	3	3	4	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:39832810G>A	ENST00000538976.1	+	5	570	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	DAAM2_ENST00000274867.4_Missense_Mutation_p.V130M|DAAM2_ENST00000398904.2_Missense_Mutation_p.V130M|DAAM2_ENST00000494405.1_3'UTR	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	130	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GAACCAAGTCGTGGAAGACCT	0.557											OREG0017416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	12					0	0	0	0	A	39832810	G	A	39832810	3	1	356	1	0	0	0	0	1	0	0	0	4249	1145	40	1	402	1	DAAM2	6	39832810	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	943641	39832810	131282257	198	66912											
UBR2	23304	broad.mit.edu	37	chr6	42559958	42559958	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtattcacagagatcaTcgatatagggttagtaatgt	14	12	11	4	1	2	1	2	0	0	1	3	4	2	2	0	2	0	3	0	2	6	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:42559958T>C	ENST00000372901.1	+	3	666	c.408T>C	c.(406-408)caT>caC	p.H136H	UBR2_ENST00000372899.1_Silent_p.H136H|UBR2_ENST00000372903.2_Silent_p.H136H			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	136					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACAGAGATCATCGATATAGGG	0.308													30	50					0	0	0	0	C	42559958	T	C	42559958	2	2	356	1	0	0	0	0	0	0	0	1	16998	1432	50	5		5	UBR2	6	42559958	Silent	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	2727148	42559958	128555109	199	66913											
ABCC10	89845	broad.mit.edu	37	chr6	43400649	43400649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttgctctccctactggtgGgcttcctggaagaggggcag	5	11	15	10	0	1	1	0	0	1	1	3	2	2	2	2	5	2	4	2	5	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:43400649G>T	ENST00000244533.3	+	1	1161	c.802G>T	c.(802-804)Ggc>Tgc	p.G268C	ABCC10_ENST00000372530.4_Missense_Mutation_p.G311C|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	311						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCTACTGGTGGGCTTCCTGGA	0.612													25	56					2.39556e-15	2.77001e-15	1	0	T	43400649	G	T	43400649	3	4	356	1	0	0	0	0	1	0	0	0	50	1232	43	4	804	4	ABCC10	6	43400649	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	840691	43400649	127714418	200	66914											
XPO5	57510	broad.mit.edu	37	chr6	43492366	43492366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcttatctccaggtacCtggggcgctgatatcagcag	8	10	11	12	1	3	1	1	1	2	0	4	1	3	1	2	3	3	4	2	3	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:43492366C>A	ENST00000265351.7	-	31	3530	c.3320G>T	c.(3319-3321)aGg>aTg	p.R1107M	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	1107					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTCCAGGTACCTGGGGCGCTG	0.483													31	78					6.53348e-20	7.91234e-20	1	0	A	43492366	C	A	43492366	3	1	356	1	0	0	0	0	1	0	0	0	17543	681	24	4	302	4	XPO5	6	43492366	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	91717	43492366	127622701	201	66915											
FAM135A	57579	broad.mit.edu	37	chr6	71212388	71212388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttataaatatgaatcttgCgcaactttgctcacttttga	12	16	5	8	1	2	2	1	2	1	0	2	2	2	2	0	0	3	2	0	0	6	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:71212388C>T	ENST00000418814.2	+	12	1537	c.923C>T	c.(922-924)gCg>gTg	p.A308V	FAM135A_ENST00000361499.3_Missense_Mutation_p.A308V|FAM135A_ENST00000505868.1_Missense_Mutation_p.A308V|FAM135A_ENST00000505769.1_Missense_Mutation_p.A308V|FAM135A_ENST00000457062.2_Missense_Mutation_p.A291V|FAM135A_ENST00000370479.3_Missense_Mutation_p.A291V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	308										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATGAATCTTGCGCAACTTTGC	0.333													26	78					0	0	0	0	T	71212388	C	T	71212388	3	4	356	1	0	0	0	0	1	0	0	0	5489	768	27	1	1039	1	FAM135A	6	71212388	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	27720022	71212388	99902679	202	66916											
ZNF292	23036	broad.mit.edu	37	chr6	87969527	87969527	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagttctttacaagtgatTacagttacttcagaacaatg	15	13	7	6	0	2	2	1	1	1	1	2	3	2	2	0	0	4	2	0	0	7	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:87969527T>C	ENST00000369577.3	+	8	6223	c.6180T>C	c.(6178-6180)atT>atC	p.I2060I	ZNF292_ENST00000339907.4_Silent_p.I2055I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TACAAGTGATTACAGTTACTT	0.358													4	10					0	0	0	0	C	87969527	T	C	87969527	2	2	356	1	0	0	0	0	0	0	0	1	17921	1742	61	5		5	ZNF292	6	87969527	Silent	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	16757139	87969527	83145540	203	66917											
POU3F2	5454	broad.mit.edu	37	chr6	99283622	99283622	+	Frame_Shift_Del	DEL	G	G	-																															ggatttacccaagcggacgtGgggctggctctgggcaccct																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:99283622delG	ENST00000328345.5	+	1	1043	c.873delG	c.(871-873)gtfs	p.V291fs		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	291	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		AAGCGGACGTGGGGCTGGCTC	0.602													148	415	---	---	---	---					-	99283622	G	-	99283622	7	5	356	1	0	1	0	1	0	0	0	0	12346	1335	47	0	875	0	POU3F2	6	99283622	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	11314095	99283622	71831445	204	66918											
GRIK2	2898	broad.mit.edu	37	chr6	102483287	102483287	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcagtcagtgctggtcaaAagtaatgaagaaggaatcca	16	7	12	6	0	2	2	2	1	0	1	3	3	3	3	1	3	1	3	1	3	6	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:102483287A>C	ENST00000369138.1	+	14	2647	c.2157A>C	c.(2155-2157)aaA>aaC	p.K719N	GRIK2_ENST00000369137.3_Missense_Mutation_p.K643N|GRIK2_ENST00000413795.1_Missense_Mutation_p.K719N|GRIK2_ENST00000369134.4_Missense_Mutation_p.K670N|GRIK2_ENST00000318991.6_Missense_Mutation_p.K719N|GRIK2_ENST00000421544.1_Missense_Mutation_p.K719N	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	719					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGCTGGTCAAAAGTAATGAAG	0.418													32	103					0	0	0	0	C	102483287	A	C	102483287	3	2	356	1	0	0	0	0	1	0	0	0	6824	11	1	5	2211	5	GRIK2	6	102483287	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	3199665	102483287	68631780	205	66919											
PRDM1	639	broad.mit.edu	37	chr6	106553159	106553159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcaccgggactcctacgCttacttgaacgcgtcctacg	9	8	10	14	5	0	2	0	1	0	1	2	3	2	3	3	1	5	2	3	1	4	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:106553159C>T	ENST00000369096.4	+	5	1358	c.1124C>T	c.(1123-1125)gCt>gTt	p.A375V	PRDM1_ENST00000369091.2_Missense_Mutation_p.A339V|PRDM1_ENST00000369089.3_Missense_Mutation_p.A241V	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	375					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GACTCCTACGCTTACTTGAAC	0.642			"D, N, Mis, F, S"		DLBCL								27	63					0	0	0	0	T	106553159	C	T	106553159	3	4	356	1	0	0	0	0	1	0	0	0	12530	797	28	4	1155	4	PRDM1	6	106553159	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	4069872	106553159	64561908	206	66920											
MICAL1	64780	broad.mit.edu	37	chr6	109771207	109771207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctagggactcagcgccctCtgcccaccgcttcaccatcc	6	8	7	20	2	4	0	2	0	2	0	5	1	5	1	5	1	2	1	5	1	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:109771207C>T	ENST00000368952.4	-	9	1620	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	MICAL1_ENST00000358807.3_Missense_Mutation_p.E425K|MICAL1_ENST00000358577.3_Missense_Mutation_p.E339K			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	425					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCAGCGCCCTCTGCCCACCGC	0.612													109	281					0	0	0	0	T	109771207	C	T	109771207	3	4	356	1	0	0	0	0	1	0	0	0	9638	922	32	2	1998	2	MICAL1	6	109771207	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3218048	109771207	61343860	207	66921											
MARCKS	4082	broad.mit.edu	37	chr6	114181119	114181119	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccggctcgcccacggcCgcggagggagaggccgcgtc	5	2	18	16	7	0	1	0	0	0	1	2	4	0	2	4	5	1	1	4	5	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:114181119C>T	ENST00000368635.4	+	2	744	c.363C>T	c.(361-363)gcC>gcT	p.A121A		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	121					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CGCCCACGGCCGCGGAGGGAG	0.751													8	6					0	0	0	0	T	114181119	C	T	114181119	2	4	356	1	0	0	0	0	0	0	0	1	9378	639	23	1		1	MARCKS	6	114181119	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	4409912	114181119	56933948	208	66922											
ROS1	6098	broad.mit.edu	37	chr6	117681120	117681120	+	Frame_Shift_Del	DEL	A	A	-																															cttgattttgatccatatctAaaaaaactatcttgttacca																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:117681120delA	ENST00000368508.3	-	23	3698	c.3500delT	c.(3499-3501)tafs	p.L1167fs	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Del_p.L1162fs	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1167					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCCATATCTAAAAAAACTAT	0.353			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								21	56	---	---	---	---					-	117681120	A	-	117681120	7	5	356	1	0	1	0	1	0	0	0	0	13616	372	13	0	3627	0	ROS1	6	117681120	Frame_Shift_Del	DEL	A	TCGA-CV-A6K1-01A-11D-A31L-08	3500001	117681120	53433947	209	66923											
FAM184A	79632	broad.mit.edu	37	chr6	119281277	119281277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaattctttcagaatgtGaagtaccgggcaaaccactc	14	9	7	11	1	2	2	1	1	1	1	3	2	2	2	2	1	2	2	2	1	5	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:119281277G>T	ENST00000338891.7	-	18	3857	c.3414C>A	c.(3412-3414)ttC>ttA	p.F1138L	FAM184A_ENST00000521531.1_Missense_Mutation_p.F1054L|FAM184A_ENST00000352896.5_Missense_Mutation_p.F969L|FAM184A_ENST00000368475.4_Missense_Mutation_p.F934L|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1138										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTCAGAATGTGAAGTACCGGG	0.428													19	39					2.98393e-07	3.19744e-07	1	0	T	119281277	G	T	119281277	3	4	356	1	0	0	0	0	1	0	0	0	5553	1281	45	2	12	2	FAM184A	6	119281277	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1600157	119281277	51833790	210	66924											
KATNA1	11104	broad.mit.edu	37	chr6	149959596	149959596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttggtcaagaactccctGataatagaccatcgcagagt	13	10	8	10	1	1	4	1	1	0	3	3	4	2	4	2	1	1	1	2	1	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:149959596G>T	ENST00000367411.2	-	2	346	c.88C>A	c.(88-90)Cag>Aag	p.Q30K	KATNA1_ENST00000335643.8_Missense_Mutation_p.Q30K|KATNA1_ENST00000335647.5_Missense_Mutation_p.Q30K	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	30	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGAACTCCCTGATAATAGACC	0.398													57	123					5.73376e-24	7.027e-24	1	0	T	149959596	G	T	149959596	3	4	356	1	0	0	0	0	1	0	0	0	8037	1299	45	2	1427	2	KATNA1	6	149959596	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	30678319	149959596	21155471	211	66925											
MTHFD1L	25902	broad.mit.edu	37	chr6	151265717	151265717	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggattcttcatgaaaacacGcaaacagataaggtgagaag	18	7	10	6	1	2	3	1	2	1	2	2	5	2	4	0	2	2	1	0	2	5	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:151265717G>A	ENST00000367321.3	+	14	1810	c.1536G>A	c.(1534-1536)acG>acA	p.T512T		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	512	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ATGAAAACACGCAAACAGATA	0.468													5	15					0	0	0	0	A	151265717	G	A	151265717	2	1	356	1	0	0	0	0	0	0	0	1	9998	1074	38	1		1	MTHFD1L	6	151265717	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1306121	151265717	19849350	212	66926											
FNDC1	84624	broad.mit.edu	37	chr6	159653322	159653322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggatgccagcgctgccccGaagggaaggcgtagataagc	10	4	15	12	4	0	1	0	0	0	1	0	4	0	3	4	3	4	2	4	3	4	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:159653322G>A	ENST00000297267.9	+	11	1978	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q	FNDC1_ENST00000340366.6_Missense_Mutation_p.R530Q	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	593						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCGCTGCCCCGAAGGGAAGGC	0.697													6	14					0	0	0	0	A	159653322	G	A	159653322	3	1	356	1	0	0	0	0	1	0	0	0	6013	1058	37	1	1820	1	FNDC1	6	159653322	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	8387605	159653322	11461745	213	66927											
GPR31	2853	broad.mit.edu	37	chr6	167570658	167570658	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaaggtgaccagtgccTgggcccgctgaagcttgggc	7	6	14	14	1	0	2	0	2	0	0	0	2	0	2	5	3	2	2	5	3	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:167570658T>C	ENST00000366834.1	-	1	1159	c.662A>G	c.(661-663)cAg>cGg	p.Q221R		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	221						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GACCAGTGCCTGGGCCCGCTG	0.582													38	63					0	0	0	0	C	167570658	T	C	167570658	3	2	356	1	0	0	0	0	1	0	0	0	6736	1580	55	5	300	5	GPR31	6	167570658	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	7917336	167570658	3544409	214	66928											
SLC29A4	222962	broad.mit.edu	37	chr7	5330374	5330374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggctttagcattggacgagCcagtgcccgatgaccgttat	8	11	12	10	3	0	1	0	1	0	0	0	4	0	2	3	2	3	3	3	2	2	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:5330374C>T	ENST00000396872.2	+	3	342	c.181C>T	c.(181-183)Cca>Tca	p.P61S	SLC29A4_ENST00000297195.4_Missense_Mutation_p.P61S|SLC29A4_ENST00000406453.3_Missense_Mutation_p.P61S	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	61					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		ATTGGACGAGCCAGTGCCCGA	0.612													31	47					0	0	0	0	T	5330374	C	T	5330374	3	4	356	1	0	0	0	0	1	0	0	0	14625	739	26	4	187	4	SLC29A4	7	5330374	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08		5330374	153808289	215	66929											
TNRC18	84629	broad.mit.edu	37	chr7	5353062	5353062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgccagccccccgcccccGgatcctcccggagcagcagg	5	3	11	22	3	0	0	0	0	0	0	2	2	2	2	9	3	4	2	9	3	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:5353062G>A	ENST00000399537.4	-	27	7808	c.7460C>T	c.(7459-7461)cCg>cTg	p.P2487L	TNRC18_ENST00000430969.1_Missense_Mutation_p.P2487L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2487							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCCCGCCCCCGGATCCTCCCG	0.697													9	20					0	0	0	0	A	5353062	G	A	5353062	3	1	356	1	0	0	0	0	1	0	0	0	16433	1116	39	1	1462	1	TNRC18	7	5353062	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	22688	5353062	153785601	216	66930											
RAC1	5879	broad.mit.edu	37	chr7	6438326	6438327	+	Frame_Shift_Ins	INS	-	-	G																															cggtaaggatataacctcccINSggggcaaagacaagccgatt																								rs143643351		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:6438326_6438327insG	ENST00000356142.4	+	4	456_457	c.259_260insG	c.(259-261)gggfs	p.G87fs	RAC1_ENST00000348035.4_Intron|RAC1_ENST00000488373.1_Intron	NM_018890.3	NP_061485.1	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	75					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TATAACCTCCCGGGGCAAAGAC	0.396													7	28	---	---	---	---					G	6438327	-	G	6438326	7	5	356	1	0	1	1	0	0	0	0	0	13056	643	23	0	273	0	RAC1	7	6438326	Frame_Shift_Ins	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	1085264	6438326	152700337	217	66931											
THSD7A	221981	broad.mit.edu	37	chr7	11675891	11675891	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttttcttaataagctcgcgGgcttctggatcctttactcc	6	17	7	11	2	2	0	0	0	2	0	5	1	4	1	2	2	2	2	2	2	3	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:11675891G>A	ENST00000423059.3	-	2	1139	c.888C>T	c.(886-888)gcC>gcT	p.A296A		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	296						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TAAGCTCGCGGGCTTCTGGAT	0.463										HNSCC(18;0.044)			49	90					0	0	0	0	A	11675891	G	A	11675891	2	1	356	1	0	0	0	0	0	0	0	1	15973	1219	43	4		4	THSD7A	7	11675891	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	5237565	11675891	147462772	218	66932											
MACC1	346389	broad.mit.edu	37	chr7	20180627	20180627	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacctccaaagaatttactAgtattaaaactccagttaat	18	12	3	8	0	0	1	0	0	0	1	2	1	2	1	3	0	3	2	3	0	9	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:20180627A>G	ENST00000400331.5	-	7	2809	c.2501T>C	c.(2500-2502)cTa>cCa	p.L834P	MACC1_ENST00000589011.1_Missense_Mutation_p.L834P|MACC1_ENST00000332878.4_Missense_Mutation_p.L834P	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	834					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AGAATTTACTAGTATTAAAAC	0.373													32	72					0	0	0	0	G	20180627	A	G	20180627	3	3	356	1	0	0	0	0	1	0	0	0	9208	420	15	5	61	5	MACC1	7	20180627	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	8504736	20180627	138958036	219	66933											
MACC1	346389	broad.mit.edu	37	chr7	20198752	20198752	+	Frame_Shift_Del	DEL	T	T	-																															gaaacacaactggagatatgTtttttccacccttcttaata																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:20198752delT	ENST00000400331.5	-	5	1540	c.1232delA	c.(1231-1233)acfs	p.N411fs	MACC1_ENST00000589011.1_Frame_Shift_Del_p.N411fs|MACC1_ENST00000332878.4_Frame_Shift_Del_p.N411fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	411					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGGAGATATGTTTTTTCCACC	0.348													10	39	---	---	---	---					-	20198752	T	-	20198752	7	5	356	1	0	1	0	1	0	0	0	0	9208	1725	60	0	1338	0	MACC1	7	20198752	Frame_Shift_Del	DEL	T	TCGA-CV-A6K1-01A-11D-A31L-08	18125	20198752	138939911	220	66934											
ANLN	54443	broad.mit.edu	37	chr7	36464327	36464327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatccctcaggccttgataaGaagaaaaaaacatccaagtc	17	7	7	10	0	1	3	1	1	0	2	4	4	3	3	3	1	1	0	3	1	6	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:36464327G>C	ENST00000265748.2	+	17	2906	c.2685G>C	c.(2683-2685)aaG>aaC	p.K895N	ANLN_ENST00000396068.2_Missense_Mutation_p.K858N	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	895	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCCTTGATAAGAAGAAAAAAA	0.294													6	21					0	0	0	0	C	36464327	G	C	36464327	3	2	356	1	0	0	0	0	1	0	0	0	693	933	33	2	2751	2	ANLN	7	36464327	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	16265575	36464327	122674336	221	66935											
ZMIZ2	83637	broad.mit.edu	37	chr7	44798983	44798983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccctccccttcctaccCtgggcacaggctgcccctgc	3	8	8	22	0	0	0	0	0	0	0	2	0	2	0	8	2	4	2	8	2	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:44798983C>A	ENST00000309315.4	+	7	1040	c.917C>A	c.(916-918)cCt>cAt	p.P306H	ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P274H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P306H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P274H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P306H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	306	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTTCCTACCCTGGGCACAGG	0.672													38	76					6.29468e-14	7.19727e-14	1	0	A	44798983	C	A	44798983	3	1	356	1	0	0	0	0	1	0	0	0	17792	681	24	4	939	4	ZMIZ2	7	44798983	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	8334656	44798983	114339680	222	66936											
ADCY1	107	broad.mit.edu	37	chr7	45688285	45688285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggagaaccactgtcgccGcatcaagattctcggggact	11	7	12	11	3	2	2	1	0	1	2	4	5	2	3	2	3	1	1	2	3	3	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:45688285G>A	ENST00000297323.7	+	5	1059	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	ADCY1_ENST00000432715.1_Missense_Mutation_p.R121H	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	346					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CACTGTCGCCGCATCAAGATT	0.587													21	45					0	0	0	0	A	45688285	G	A	45688285	3	1	356	1	0	0	0	0	1	0	0	0	292	1087	38	1	1055	1	ADCY1	7	45688285	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	889302	45688285	113450378	223	66937											
C7orf57	136288	broad.mit.edu	37	chr7	48081042	48081042	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacacagcgagaacctgcCtgggactcggagatactgga	11	6	12	12	2	1	2	1	0	0	2	2	6	1	4	2	3	4	0	2	3	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:48081042C>A	ENST00000348904.3	+	3	379	c.167C>A	c.(166-168)cCt>cAt	p.P56H	C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000420324.1_Missense_Mutation_p.P101H|C7orf57_ENST00000430738.1_Missense_Mutation_p.P101H|C7orf57_ENST00000539619.1_Missense_Mutation_p.P56H	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	56										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GAGAACCTGCCTGGGACTCGG	0.577													20	25					8.10497e-08	8.74596e-08	1	0	A	48081042	C	A	48081042	3	1	356	1	0	0	0	0	1	0	0	0	2427	681	24	4	173	4	C7orf57	7	48081042	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2392757	48081042	111057621	224	66938											
ABCA13	154664	broad.mit.edu	37	chr7	48626818	48626818	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctgtggccacctacagTgggggaaccaagcggaaact	13	5	12	11	1	0	0	0	0	0	0	0	2	0	2	4	4	5	0	4	4	5	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:48626818T>A	ENST00000435803.1	+	57	14598	c.14574T>A	c.(14572-14574)agT>agA	p.S4858R	ABCA13_ENST00000544596.1_Missense_Mutation_p.S588R	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4858	ABC transporter 2.				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						CCACCTACAGTGGGGGAACCA	0.532													6	17					0	0	0	0	A	48626818	T	A	48626818	3	1	356	1	0	0	0	0	1	0	0	0	31	1693	59	5	14629	5	ABCA13	7	48626818	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	545776	48626818	110511845	225	66939											
CCT6A	908	broad.mit.edu	37	chr7	56128584	56128584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagtgtaaagggcagggCacagcttggagtccaagcat	11	6	14	10	0	0	0	0	0	0	0	1	1	1	1	2	3	2	5	2	3	3	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:56128584C>T	ENST00000275603.4	+	11	1517	c.1298C>T	c.(1297-1299)gCa>gTa	p.A433V	CCT6A_ENST00000540286.1_Missense_Mutation_p.A402V|CCT6A_ENST00000335503.3_Missense_Mutation_p.A388V|CCT6A_ENST00000462133.1_3'UTR	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	433					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAGGGCAGGGCACAGCTTGGA	0.493													23	43					0	0	0	0	T	56128584	C	T	56128584	3	4	356	1	0	0	0	0	1	0	0	0	2986	710	25	4	1340	4	CCT6A	7	56128584	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	7501766	56128584	103010079	226	66940											
MLXIPL	51085	broad.mit.edu	37	chr7	73011953	73011953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgggggtacaggaggggGtgggagccggggcttggggt	5	6	26	4	1	0	0	0	0	0	0	0	2	0	2	1	11	2	2	1	11	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:73011953G>A	ENST00000313375.3	-	9	1209	c.1162C>T	c.(1162-1164)Ccc>Tcc	p.P388S	MLXIPL_ENST00000414749.2_Missense_Mutation_p.P388S|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P295S|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P388S|MLXIPL_ENST00000354613.1_Missense_Mutation_p.P388S|MLXIPL_ENST00000434326.1_Missense_Mutation_p.P295S	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	388	Poly-Pro.				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACAGGAGGGGGTGGGAGCCGG	0.672													10	12					0	0	0	0	A	73011953	G	A	73011953	3	1	356	1	0	0	0	0	1	0	0	0	9706	1261	44	4	1432	4	MLXIPL	7	73011953	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	16883369	73011953	86126710	227	66941											
ABHD11	83451	broad.mit.edu	37	chr7	73151895	73151895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatgggcggctcaccctCtgtagtgccagcagcatggc	8	7	13	13	1	2	1	1	0	1	1	2	1	2	1	2	3	3	4	2	3	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:73151895C>A	ENST00000222800.3	-	3	528	c.459G>T	c.(457-459)caG>caT	p.Q153H	ABHD11_ENST00000458339.1_Missense_Mutation_p.Q153H|ABHD11_ENST00000395147.4_Missense_Mutation_p.Q153H|ABHD11_ENST00000437775.2_Missense_Mutation_p.Q146H	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	153							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGCTCACCCTCTGTAGTGCCA	0.617													4	16					0.00909568	0.00924627	1	0	A	73151895	C	A	73151895	3	1	356	1	0	0	0	0	1	0	0	0	75	912	32	2	504	2	ABHD11	7	73151895	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	139942	73151895	85986768	228	66942											
GNAT3	346562	broad.mit.edu	37	chr7	80091852	80091852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacgaggaccatgtcatagGcactaagtgcagcacaaaat	15	6	9	11	1	1	0	1	0	0	0	1	2	1	1	2	2	2	3	2	2	4	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:80091852G>A	ENST00000398291.3	-	6	779	c.686C>T	c.(685-687)gCc>gTc	p.A229V	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	229					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CATGTCATAGGCACTAAGTGC	0.398													26	59					0	0	0	0	A	80091852	G	A	80091852	3	1	356	1	0	0	0	0	1	0	0	0	6564	1203	42	4	388	4	GNAT3	7	80091852	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	6939957	80091852	79046811	229	66943											
RUNDC3B	154661	broad.mit.edu	37	chr7	87369141	87369141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagcaattgtcttgggtGaagaagcaaatatgcttgct	12	12	12	5	0	1	2	0	1	1	1	1	3	1	3	0	2	4	4	0	2	5	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:87369141G>A	ENST00000338056.3	+	6	955	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E165K|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E165K|RUNDC3B_ENST00000496000.1_3'UTR	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	182	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGTCTTGGGTGAAGAAGCAAA	0.303													15	29					0	0	0	0	A	87369141	G	A	87369141	3	1	356	1	0	0	0	0	1	0	0	0	13830	1291	45	2	566	2	RUNDC3B	7	87369141	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	7277289	87369141	71769522	230	66944											
ZNF804B	219578	broad.mit.edu	37	chr7	88962805	88962806	+	Frame_Shift_Ins	INS	-	-	A																															agtgctcttctccttaaaggINSaaaaaatctccccagaatca																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:88962805_88962806insA	ENST00000333190.4	+	4	1118_1119	c.509_510insA	c.(508-510)gaafs	p.E170fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	170						intracellular	zinc ion binding	p.G170E(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTCCTTAAAGGAAAAAATCTCC	0.446										HNSCC(36;0.09)			19	55	---	---	---	---					A	88962806	-	A	88962805	7	5	356	1	0	1	1	0	0	0	0	0	18264	1174	41	0	523	0	ZNF804B	7	88962805	Frame_Shift_Ins	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	1593664	88962805	70175858	231	66945											
SGCE	8910	broad.mit.edu	37	chr7	94252690	94252690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttgcagtctcaaaggtgCgcctgttgtaggcagttatc	7	12	12	10	1	1	0	1	0	1	0	3	0	1	0	2	2	2	5	2	2	3	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:94252690C>T	ENST00000415788.2	-	5	605	c.518G>A	c.(517-519)cGc>cAc	p.R173H	SGCE_ENST00000445866.2_Missense_Mutation_p.R137H|SGCE_ENST00000437425.2_Missense_Mutation_p.R96H|SGCE_ENST00000265735.7_Missense_Mutation_p.R137H|SGCE_ENST00000428696.2_Missense_Mutation_p.R137H|SGCE_ENST00000447873.1_Missense_Mutation_p.R137H			O43556	SGCE_HUMAN	sarcoglycan, epsilon	137					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCAAAGGTGCGCCTGTTGTA	0.274													8	16					0	0	0	0	T	94252690	C	T	94252690	3	4	356	1	0	0	0	0	1	0	0	0	14289	768	27	1	1087	1	SGCE	7	94252690	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	5289885	94252690	64885973	232	66946											
TRRAP	8295	broad.mit.edu	37	chr7	98609011	98609011	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcgatttgacataaacgaCgcgactggagacctggatgc	11	10	11	9	4	0	2	0	1	0	1	1	7	0	3	1	2	2	0	1	2	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:98609011C>T	ENST00000359863.4	+	71	11357	c.11148C>T	c.(11146-11148)gaC>gaT	p.D3716D	TRRAP_ENST00000355540.3_Silent_p.D3687D|TRRAP_ENST00000446306.3_Silent_p.D3705D	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3716	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACATAAACGACGCGACTGGAG	0.507													26	69					0	0	0	0	T	98609011	C	T	98609011	2	4	356	1	0	0	0	0	0	0	0	1	16696	535	19	1		1	TRRAP	7	98609011	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	4356321	98609011	60529652	233	66947											
TRIM4	89122	broad.mit.edu	37	chr7	99490134	99490134	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctccagactatctctactCtcaacttcccagtaatgttt	10	14	3	14	0	2	1	1	0	2	1	6	1	4	1	3	0	2	2	3	0	4	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:99490134C>G	ENST00000355947.2	-	7	1284	c.1155G>C	c.(1153-1155)gaG>gaC	p.E385D	TRIM4_ENST00000349062.2_Missense_Mutation_p.E359D	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	385	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TATCTCTACTCTCAACTTCCC	0.478													71	129					0	0	0	0	G	99490134	C	G	99490134	3	3	356	1	0	0	0	0	1	0	0	0	16609	912	32	2	351	2	TRIM4	7	99490134	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	881123	99490134	59648529	234	66948											
AP4M1	9179	broad.mit.edu	37	chr7	99704297	99704297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagatggacgtcccagggcCcccaggacctcccagccatg	9	4	11	17	1	0	1	0	0	0	1	2	3	2	3	6	3	1	0	6	3	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:99704297C>A	ENST00000429084.1	+	15	1333	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H	AP4M1_ENST00000421755.1_Missense_Mutation_p.P385H|AP4M1_ENST00000359593.4_Missense_Mutation_p.P385H|AP4M1_ENST00000422582.1_Missense_Mutation_p.P257H			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	385	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCCCAGGGCCCCCAGGACCT	0.687													26	88					4.22769e-11	4.71108e-11	1	0	A	99704297	C	A	99704297	3	1	356	1	0	0	0	0	1	0	0	0	754	623	22	4	1212	4	AP4M1	7	99704297	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	214163	99704297	59434366	235	66949											
PVRIG	79037	broad.mit.edu	37	chr7	99817998	99817998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggggccagcagcccctGcgccaacaccaccttctgct	6	7	9	19	1	2	0	0	0	2	0	2	0	2	0	6	2	5	2	6	2	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:99817998G>A	ENST00000317271.2	+	3	743	c.380G>A	c.(379-381)tGc>tAc	p.C127Y	GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	127						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCAGCCCCTGCGCCAACACC	0.682													4	7					0	0	0	0	A	99817998	G	A	99817998	3	1	356	1	0	0	0	0	1	0	0	0	12920	1319	46	4	386	4	PVRIG	7	99817998	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	113701	99817998	59320665	236	66950											
PCOLCE	5118	broad.mit.edu	37	chr7	100205710	100205710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcaacctgtgcgggctgCtgcgtcccaggactgagacg	6	8	13	14	3	1	1	1	1	1	1	3	3	2	2	2	2	4	2	2	2	1	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:100205710C>T	ENST00000223061.5	+	9	1614	c.1334C>T	c.(1333-1335)gCt>gTt	p.A445V		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	445					multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGCGGGCTGCTGCGTCCCAG	0.562													32	63					0	0	0	0	T	100205710	C	T	100205710	3	4	356	1	0	0	0	0	1	0	0	0	11665	797	28	4	1368	4	PCOLCE	7	100205710	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	387712	100205710	58932953	237	66951											
ZAN	7455	broad.mit.edu	37	chr7	100345978	100345978	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtgactttgaagacaaCgcccatcccttctgtgactg	9	11	9	12	1	1	4	0	3	1	1	2	4	2	4	2	0	1	0	2	0	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:100345978C>T	ENST00000542585.1	+	0	1282				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTGAAGACAACGCCCATCCCT	0.582													21	51					0	0	0	0	T	100345978	C	T	100345978	1	4	356	0	1	0	0	0	0	0	0	0	17609	535	19	1		1	ZAN	7	100345978	RNA	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	140268	100345978	58792685	238	66952											
SLC12A9	56996	broad.mit.edu	37	chr7	100459110	100459110	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctggcgcggctggtggCtccctgctcctcatgggtct	2	11	14	14	2	2	0	1	0	1	0	5	0	5	0	3	5	1	3	3	5	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:100459110C>T	ENST00000354161.3	+	11	1565	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G	SLC12A9_ENST00000428758.1_Silent_p.G480G|SLC12A9_ENST00000275729.3_Silent_p.G391G|SLC12A9_ENST00000540482.1_Silent_p.G480G|SLC12A9_ENST00000415287.1_Silent_p.G391G	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	480						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGCTGGTGGCTCCCTGCTCC	0.652													54	119					0	0	0	0	T	100459110	C	T	100459110	2	4	356	1	0	0	0	0	0	0	0	1	14478	784	28	4		4	SLC12A9	7	100459110	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	113132	100459110	58679553	239	66953											
CLDN15	24146	broad.mit.edu	37	chr7	100880799	100880799	+	Frame_Shift_Del	DEL	C	C	-																															gtagctgtttggcagagtcaCccccagcatcagcagcccca																								rs144226303		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:100880799delC	ENST00000401528.1	-	2	1189	c.64delG	c.(64-66)tgfs	p.V22fs	CLDN15_ENST00000433422.1_5'UTR|CLDN15_ENST00000308344.5_Frame_Shift_Del_p.V22fs	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	22					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					GGCAGAGTCACCCCCAGCATC	0.587													24	40	---	---	---	---					-	100880799	C	-	100880799	7	5	356	1	0	1	0	1	0	0	0	0	3506	507	18	0	642	0	CLDN15	7	100880799	Frame_Shift_Del	DEL	C	TCGA-CV-A6K1-01A-11D-A31L-08	421689	100880799	58257864	240	66954											
RELN	5649	broad.mit.edu	37	chr7	103234330	103234330	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggcttctcataaaagttCtaatagaaacaatacaaata	18	11	5	7	0	2	1	1	0	2	1	3	1	2	1	0	1	2	3	0	1	9	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:103234330C>G	ENST00000424685.2	-	27	3871		c.e27-1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000428762.1_Splice_Site			P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATAAAAGTTCTAATAGAAAC	0.343													12	24					0	0	0	0	G	103234330	C	G	103234330	5	3	356	1	0	0	0	0	0	0	1	0	13302	927	32	2	6827	2	RELN	7	103234330	Splice_Site	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2353531	103234330	55904333	241	66955											
GRM8	2918	broad.mit.edu	37	chr7	126883110	126883110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcgtggacagggaagagaCcccccaaaataatgtcccca	13	6	10	12	1	0	1	0	0	0	1	1	4	1	3	5	2	1	0	5	2	4	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:126883110C>T	ENST00000339582.2	-	2	957	c.149G>A	c.(148-150)gGt>gAt	p.G50D	GRM8_ENST00000405249.1_Missense_Mutation_p.G50D|GRM8_ENST00000444921.2_Missense_Mutation_p.G50D|GRM8_ENST00000358373.3_Missense_Mutation_p.G50D			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	50					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGGGAAGAGACCCCCCAAAAT	0.517										HNSCC(24;0.065)			25	40					0	0	0	0	T	126883110	C	T	126883110	3	4	356	1	0	0	0	0	1	0	0	0	6853	507	18	4	2667	4	GRM8	7	126883110	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	23648780	126883110	32255553	242	66956											
CNOT4	4850	broad.mit.edu	37	chr7	135048772	135048772	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaagtgcccttagcccGtcctgccattccttcatatt	7	13	8	13	1	1	1	1	0	0	1	3	1	3	1	5	1	3	1	5	1	4	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:135048772G>A	ENST00000541284.1	-	11	2004	c.1674C>T	c.(1672-1674)gaC>gaT	p.D558D	CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000451834.1_Silent_p.D555D	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	238					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CCCTTAGCCCGTCCTGCCATT	0.423													55	63					0	0	0	0	A	135048772	G	A	135048772	2	1	356	1	0	0	0	0	0	0	0	1	3651	1160	40	1		1	CNOT4	7	135048772	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	8165662	135048772	24089891	243	66957											
DGKI	9162	broad.mit.edu	37	chr7	137128838	137128838	+	Frame_Shift_Del	DEL	A	A	-																															cttaccatgatcttctgaagAgactggtgacctaaaaggaa																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:137128838delA	ENST00000453654.1	-	28	2316	c.1777delT	c.(1777-1779)ctfs	p.S594fs	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000288490.5_Frame_Shift_Del_p.S925fs|DGKI_ENST00000424189.2_Frame_Shift_Del_p.S938fs|DGKI_ENST00000446122.1_Frame_Shift_Del_p.S907fs			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	925					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCTTCTGAAGAGACTGGTGAC	0.294													4	8	---	---	---	---					-	137128838	A	-	137128838	7	5	356	1	0	1	0	1	0	0	0	0	4508	304	11	0	451	0	DGKI	7	137128838	Frame_Shift_Del	DEL	A	TCGA-CV-A6K1-01A-11D-A31L-08	2080066	137128838	22009825	244	66958											
HIPK2	28996	broad.mit.edu	37	chr7	139281659	139281659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtgcaccatggcacagcGgggaggtgtgttctccttga	7	10	14	10	1	1	1	0	1	1	0	2	2	1	2	2	4	2	3	2	4	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:139281659G>A	ENST00000406875.3	-	12	2615	c.2521C>T	c.(2521-2523)Cgc>Tgc	p.R841C	HIPK2_ENST00000342645.6_Intron|HIPK2_ENST00000428878.2_Missense_Mutation_p.R814C	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	841	Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATGGCACAGCGGGGAGGTGTG	0.627													26	35					0	0	0	0	A	139281659	G	A	139281659	3	1	356	1	0	0	0	0	1	0	0	0	7167	1116	39	1	1091	1	HIPK2	7	139281659	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2152821	139281659	19857004	245	66959											
CNTNAP2	26047	broad.mit.edu	37	chr7	147600793	147600793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaagtactactgtaactgCgacgcggactacaagcaatg	13	7	9	12	3	0	0	0	0	0	0	0	2	0	1	1	1	6	3	1	1	7	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:147600793C>T	ENST00000361727.3	+	14	2751	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	745	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.C745C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTGTAACTGCGACGCGGACT	0.542										HNSCC(39;0.1)			7	9					0	0	0	0	T	147600793	C	T	147600793	2	4	356	1	0	0	0	0	0	0	0	1	3677	776	27	1		1	CNTNAP2	7	147600793	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	8319134	147600793	11537870	246	66960											
ZNF425	155054	broad.mit.edu	37	chr7	148801741	148801741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagggcttctctcccgtgtGaactctgatgtgctcgtcca	7	12	10	12	2	2	2	0	2	2	0	6	2	4	2	2	1	2	2	2	1	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:148801741G>A	ENST00000378061.2	-	4	1354	c.1222C>T	c.(1222-1224)Cac>Tac	p.H408Y		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	408					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTCCCGTGTGAACTCTGATG	0.532													48	68					0	0	0	0	A	148801741	G	A	148801741	3	1	356	1	0	0	0	0	1	0	0	0	17994	1290	45	2	1040	2	ZNF425	7	148801741	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1200948	148801741	10336922	247	66961											
NOS3	4846	broad.mit.edu	37	chr7	150698398	150698398	+	Frame_Shift_Del	DEL	G	G	-																															ggagaatgagcagaaggccaGggggggctgccctgcagact																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:150698398delG	ENST00000297494.3	+	11	1670	c.1313delG	c.(1312-1314)agfs	p.R438fs	NOS3_ENST00000484524.1_Frame_Shift_Del_p.R438fs|NOS3_ENST00000461406.1_Frame_Shift_Del_p.R232fs|NOS3_ENST00000467517.1_Frame_Shift_Del_p.R438fs	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	438	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CAGAAGGCCAGGGGGGGCTGC	0.617													43	47	---	---	---	---					-	150698398	G	-	150698398	7	5	356	1	0	1	0	1	0	0	0	0	10614	1000	35	0	1351	0	NOS3	7	150698398	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	1896657	150698398	8440265	248	66962											
RP1L1	94137	broad.mit.edu	37	chr8	10470808	10470808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggcgtgctgcctggcGgagaccgcgaatggatcaca	7	6	16	12	5	1	1	1	0	0	1	1	4	1	2	3	4	2	1	3	4	1	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:10470808G>A	ENST00000382483.3	-	4	1023	c.800C>T	c.(799-801)cCg>cTg	p.P267L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	267					intracellular signal transduction					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)		GCTGCCTGGCGGAGACCGCGA	0.632													36	71					0	0	0	0	A	10470808	G	A	10470808	3	1	356	1	0	0	0	0	1	0	0	0	13618	1116	39	1	6406	1	RP1L1	8	10470808	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08		10470808	135893214	249	66963											
MTUS1	57509	broad.mit.edu	37	chr8	17513519	17513522	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															tggacgaatgcttcatacacTgtttgtaactcattcctggc																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:17513519_17513522delTGTT	ENST00000381869.3	-	8	3269_3272	c.2796_2799delAACA	c.(2794-2799)cafs	p.QT932fs	MTUS1_ENST00000297488.6_Frame_Shift_Del_p.QT152fs|MTUS1_ENST00000262102.6_Frame_Shift_Del_p.QT986fs|MTUS1_ENST00000544260.1_Frame_Shift_Del_p.QT131fs|MTUS1_ENST00000400046.1_Frame_Shift_Del_p.QT58fs|MTUS1_ENST00000519263.1_Frame_Shift_Del_p.QT932fs|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000381861.3_Frame_Shift_Del_p.QT233fs	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	986						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTTCATACACTGTTTGTAACTCAT	0.422													35	64	---	---	---	---					-	17513522	TGTT	-	17513519	7	5	356	1	0	1	0	1	0	0	0	0	10035	1567	55	0	879	0	MTUS1	8	17513519	Frame_Shift_Del	DEL	TGTT	TCGA-CV-A6K1-01A-11D-A31L-08	7042711	17513519	128850503	250	66964											
WRN	7486	broad.mit.edu	37	chr8	30941236	30941236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttatctcccaatgataatGaaaacgatacgtcctatgta	15	13	5	8	2	1	2	0	2	1	0	3	3	2	2	2	0	2	1	2	0	8	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:30941236G>A	ENST00000298139.5	+	10	1540	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	431	2 X 27 AA tandem repeats of H-L-S-P-N-D- N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L- K.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAATGATAATGAAAACGATAC	0.284			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				6	33					0	0	0	0	A	30941236	G	A	30941236	3	1	356	1	0	0	0	0	1	0	0	0	17498	1291	45	2	1325	2	WRN	8	30941236	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	13427717	30941236	115422786	251	66965											
ADAM32	203102	broad.mit.edu	37	chr8	39068690	39068690	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggtgtgaagacttttagCagttgcagtttgaggagctt	10	14	13	4	0	0	3	0	2	0	1	0	4	0	4	0	2	3	5	0	2	3	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:39068690C>T	ENST00000379907.4	+	12	1207	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	360	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AGACTTTTAGCAGTTGCAGTT	0.333													12	22					0	0	0	0	T	39068690	C	T	39068690	2	4	356	1	0	0	0	0	0	0	0	1	249	709	25	4		4	ADAM32	8	39068690	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	8127454	39068690	107295332	252	66966											
ANK1	286	broad.mit.edu	37	chr8	41519418	41519418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgctcctgggcggcatcGgcgctggacaagtctatctg	5	10	14	12	4	2	0	0	0	2	0	5	1	3	1	1	4	1	3	1	4	2	1	rs116148295	by1000genomes	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:41519418G>A	ENST00000396942.1	-	41	5603	c.5520C>T	c.(5518-5520)gcC>gcT	p.A1840A	ANK1_ENST00000522543.1_Silent_p.A115A|ANK1_ENST00000396945.1_Intron|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000347528.4_Silent_p.A1840A|ANK1_ENST00000289734.7_Silent_p.A1840A|ANK1_ENST00000314214.8_Silent_p.A115A|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000265709.8_Silent_p.A1881A|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000522231.1_Silent_p.A115A|ANK1_ENST00000379758.2_Intron|RP11-930P14.1_ENST00000522388.1_RNA			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1840	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGCGGCATCGGCGCTGGACA	0.572													28	47					0	0	0	0	A	41519418	G	A	41519418	2	1	356	1	0	0	0	0	0	0	0	1	620	1103	39	1		1	ANK1	8	41519418	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2450728	41519418	104844604	253	66967											
OPRK1	4986	broad.mit.edu	37	chr8	54142051	54142051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttggtatagcctaaggCgatgcagaagtaatagctgg	12	10	13	6	1	0	1	0	0	0	1	0	2	0	1	1	3	3	5	1	3	6	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:54142051C>T	ENST00000265572.3	-	4	1246	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	OPRK1_ENST00000520287.1_Missense_Mutation_p.A317T|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.A228T	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	317					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TAGCCTAAGGCGATGCAGAAG	0.512													19	33					0	0	0	0	T	54142051	C	T	54142051	3	4	356	1	0	0	0	0	1	0	0	0	10956	768	27	1	197	1	OPRK1	8	54142051	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	12622633	54142051	92221971	254	66968											
TOX	9760	broad.mit.edu	37	chr8	59727981	59727981	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgcatggtgagcggctgGtgctgctgcatgttgagatg	5	12	17	7	1	0	2	0	2	0	1	0	3	0	2	0	3	6	7	0	3	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:59727981G>C	ENST00000361421.1	-	7	1528	c.1308C>G	c.(1306-1308)caC>caG	p.H436Q		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	436						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TGAGCGGCTGGTGCTGCTGCA	0.577													25	43					0	0	0	0	C	59727981	G	C	59727981	3	2	356	1	0	0	0	0	1	0	0	0	16472	1252	44	4	284	4	TOX	8	59727981	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	5585930	59727981	86636041	255	66969											
RIPK2	8767	broad.mit.edu	37	chr8	90782147	90782148	+	Frame_Shift_Ins	INS	-	-	AT																															aagggccagtatcaagcacgINSatatatataggtagagtaaa																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:90782147_90782148insAT	ENST00000220751.4	+	4	945_946	c.631_632insAT	c.(631-633)tatfs	p.Y211fs	RIPK2_ENST00000540020.1_Frame_Shift_Ins_p.Y74fs	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	211	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TATCAAGCACGATATATATAGG	0.381													27	136	---	---	---	---					AT	90782148	-	AT	90782147	7	5	356	1	0	1	1	0	0	0	0	0	13466	1058	37	0	645	0	RIPK2	8	90782147	Frame_Shift_Ins	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	31054166	90782147	55581875	256	66970											
RUNX1T1	862	broad.mit.edu	37	chr8	92998496	92998496	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctgcttcttgacaccgccTtagtacggtgagagatcgcc	7	11	11	12	3	2	3	0	2	2	1	3	4	2	3	3	1	2	2	3	1	2	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:92998496T>A	ENST00000523629.1	-	9	1589	c.1135A>T	c.(1135-1137)Agg>Tgg	p.R379W	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R390W|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R352W|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R352W|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R342W|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R379W|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R342W|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R342W	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	379	Important for oligomerization.				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)			TGACACCGCCTTAGTACGGTG	0.473													27	69					0	0	0	0	A	92998496	T	A	92998496	3	1	356	1	0	0	0	0	1	0	0	0	13832	1608	56	5	695	5	RUNX1T1	8	92998496	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	2216349	92998496	53365526	257	66971											
RUNX1T1	862	broad.mit.edu	37	chr8	93074777	93074777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaacagggctaactcaccagGcatccttgaatccagcgtac	12	7	9	13	1	1	1	1	1	0	0	3	2	3	1	3	2	4	3	3	2	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:93074777G>A	ENST00000396218.1	-	1	414	c.4C>T	c.(4-6)Cct>Tct	p.P2S	RUNX1T1_ENST00000436581.2_Intron|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P2S|RUNX1T1_ENST00000523629.1_Intron|RUNX1T1_ENST00000360348.2_Intron|RUNX1T1_ENST00000265814.3_Intron|RUNX1T1_ENST00000522163.1_5'UTR|RUNX1T1_ENST00000520724.1_Intron	NM_004349.3	NP_004340.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	0					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)			AACTCACCAGGCATCCTTGAA	0.488													64	159					0	0	0	0	A	93074777	G	A	93074777	3	1	356	1	0	0	0	0	1	0	0	0	13832	1203	42	4	1773	4	RUNX1T1	8	93074777	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	76281	93074777	53289245	258	66972											
MATN2	4147	broad.mit.edu	37	chr8	98900392	98900392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatcgtcctcctccctgccGaggccagggagcggtcacgt	6	7	13	15	4	1	1	1	0	0	1	5	3	4	2	5	3	2	0	5	3	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:98900392G>A	ENST00000254898.5	+	2	295	c.64G>A	c.(64-66)Gag>Aag	p.E22K	MATN2_ENST00000524308.1_Missense_Mutation_p.E22K|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.E22K|MATN2_ENST00000520016.1_Missense_Mutation_p.E22K	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	22						proteinaceous extracellular matrix	calcium ion binding	p.E22K(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCTCCCTGCCGAGGCCAGGGA	0.627													15	22					0	0	0	0	A	98900392	G	A	98900392	3	1	356	1	0	0	0	0	1	0	0	0	9403	1059	37	1	66	1	MATN2	8	98900392	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	5825615	98900392	47463630	259	66973											
VPS13B	157680	broad.mit.edu	37	chr8	100479781	100479781	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaaaactgcttgctacGggacctgatacacgacattc	12	10	7	12	2	1	1	1	1	1	0	3	3	1	2	1	1	5	2	1	1	4	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:100479781G>A	ENST00000395996.1	+	24	3696	c.3585G>A	c.(3583-3585)acG>acA	p.T1195T	VPS13B_ENST00000357162.2_Silent_p.T1195T|VPS13B_ENST00000358544.2_Silent_p.T1195T			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1195					protein transport			p.T1195T(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGCTTGCTACGGGACCTGATA	0.433													43	93					0	0	0	0	A	100479781	G	A	100479781	2	1	356	1	0	0	0	0	0	0	0	1	17286	1103	39	1		1	VPS13B	8	100479781	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1579389	100479781	45884241	260	66974											
DCAF13	25879	broad.mit.edu	37	chr8	104427657	104427657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggacacctcgtggagtccgGccggaagagcaaccgagatg	10	4	15	12	5	0	2	0	0	0	2	2	6	1	5	4	4	2	1	4	4	2	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:104427657G>A	ENST00000297579.5	+	1	716	c.439G>A	c.(439-441)Gcc>Acc	p.A147T	DCAF13_ENST00000521971.1_5'UTR|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000521716.1_5'UTR|DCAF13_ENST00000519682.1_5'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTGGAGTCCGGCCGGAAGAGC	0.567													12	34					0	0	0	0	A	104427657	G	A	104427657	3	1	356	1	0	0	0	0	1	0	0	0	4299	1203	42	4	441	4	DCAF13	8	104427657	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	3947876	104427657	41936365	261	66975											
TMEM74	157753	broad.mit.edu	37	chr8	109797107	109797107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcatctggctgaagagtaCtgttttgcagagaggaggag	11	9	16	5	0	1	3	0	1	1	2	1	6	1	5	0	4	2	5	0	4	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:109797107C>G	ENST00000297459.3	-	2	399	c.221G>C	c.(220-222)aGt>aCt	p.S74T	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	74					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CTGAAGAGTACTGTTTTGCAG	0.502													45	107					0	0	0	0	G	109797107	C	G	109797107	3	3	356	1	0	0	0	0	1	0	0	0	16296	565	20	4	700	4	TMEM74	8	109797107	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	5369450	109797107	36566915	262	66976											
CSMD3	114788	broad.mit.edu	37	chr8	113301669	113301669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactggcctaaaagggaacGctttcctgtgcaggaatagt	11	10	12	8	1	0	1	0	1	0	0	1	3	1	3	2	3	2	2	2	3	5	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:113301669G>A	ENST00000297405.5	-	57	9317	c.9073C>T	c.(9073-9075)Cgt>Tgt	p.R3025C	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2985C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2856C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2955C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3025	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAAGGGAACGCTTTCCTGTG	0.468										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	40					0	0	0	0	A	113301669	G	A	113301669	3	1	356	1	0	0	0	0	1	0	0	0	3978	1087	38	1	2110	1	CSMD3	8	113301669	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	3504562	113301669	33062353	263	66977											
FAM91A1	157769	broad.mit.edu	37	chr8	124790324	124790324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttatgaatcagtgtagaTcatcaaaagtaagttagtac	16	13	7	5	0	4	2	3	1	1	1	4	2	4	2	0	0	1	4	0	0	8	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:124790324T>C	ENST00000334705.7	+	5	673	c.427T>C	c.(427-429)Tca>Cca	p.S143P	FAM91A1_ENST00000521166.1_Missense_Mutation_p.S143P	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	143										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TCAGTGTAGATCATCAAAAGT	0.299													11	21					0	0	0	0	C	124790324	T	C	124790324	3	2	356	1	0	0	0	0	1	0	0	0	5696	1435	50	5	445	5	FAM91A1	8	124790324	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	11488655	124790324	21573698	264	66978											
COL22A1	169044	broad.mit.edu	37	chr8	139606317	139606317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccctgcccaggacgacctgGctcccccatggggccggccc	4	4	12	21	2	0	0	0	0	0	0	1	2	1	1	8	5	1	1	8	5	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:139606317G>T	ENST00000303045.6	-	63	5004	c.4558C>A	c.(4558-4560)Cca>Aca	p.P1520T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1500T|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1520	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGACGACCTGGCTCCCCCATG	0.647										HNSCC(7;0.00092)			26	36					2.79863e-10	3.09058e-10	1	0	T	139606317	G	T	139606317	3	4	356	1	0	0	0	0	1	0	0	0	3711	1203	42	4	334	4	COL22A1	8	139606317	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	14815993	139606317	6757705	265	66979											
COL22A1	169044	broad.mit.edu	37	chr8	139610998	139610998	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggctggcctggaggcccTgggggtccaactggtccatt	4	8	15	14	1	0	0	0	0	0	0	2	1	2	1	5	7	1	1	5	7	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:139610998T>G	ENST00000303045.6	-	61	4775	c.4329A>C	c.(4327-4329)ccA>ccC	p.P1443P	COL22A1_ENST00000435777.1_Silent_p.P1423P|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1443	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGAGGCCCTGGGGGTCCAA	0.632										HNSCC(7;0.00092)			29	61					0	0	0	0	G	139610998	T	G	139610998	2	3	356	1	0	0	0	0	0	0	0	1	3711	1567	55	5		5	COL22A1	8	139610998	Silent	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	4681	139610998	6753024	266	66980											
COL22A1	169044	broad.mit.edu	37	chr8	139620195	139620195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacaggggttcctgaagggCcaggctctcctggagatccc	7	8	13	13	0	2	2	1	1	1	1	5	3	4	2	4	5	0	2	4	5	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:139620195C>T	ENST00000303045.6	-	57	4462	c.4016G>A	c.(4015-4017)gGc>gAc	p.G1339D	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1319D|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1339	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCTGAAGGGCCAGGCTCTCC	0.532										HNSCC(7;0.00092)			14	43					0	0	0	0	T	139620195	C	T	139620195	3	4	356	1	0	0	0	0	1	0	0	0	3711	739	26	4	900	4	COL22A1	8	139620195	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	9197	139620195	6743827	267	66981											
COL22A1	169044	broad.mit.edu	37	chr8	139642946	139642946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaacttacaggtgaccCttggattcctggtggtccag	8	11	13	9	0	0	2	0	2	0	0	2	4	2	4	3	5	2	0	3	5	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:139642946C>A	ENST00000303045.6	-	50	4101	c.3655G>T	c.(3655-3657)Ggg>Tgg	p.G1219W	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1199W|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1219	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACAGGTGACCCTTGGATTCCT	0.468										HNSCC(7;0.00092)			47	125					2.74224e-37	3.44323e-37	1	0	A	139642946	C	A	139642946	3	1	356	1	0	0	0	0	1	0	0	0	3711	681	24	4	1289	4	COL22A1	8	139642946	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	22751	139642946	6721076	268	66982											
PLEC	5339	broad.mit.edu	37	chr8	144991258	144991258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgaggaggaacgggagCggaaaccaccggcgttgccc	10	2	15	14	5	0	0	0	0	0	0	0	5	0	4	5	5	4	1	5	5	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:144991258C>T	ENST00000322810.4	-	32	13311	c.13142G>A	c.(13141-13143)cGc>cAc	p.R4381H	PLEC_ENST00000354958.2_Missense_Mutation_p.R4222H|PLEC_ENST00000527096.1_Missense_Mutation_p.R4267H|PLEC_ENST00000354589.3_Missense_Mutation_p.R4244H|PLEC_ENST00000357649.2_Missense_Mutation_p.R4248H|PLEC_ENST00000398774.2_Missense_Mutation_p.R4212H|PLEC_ENST00000345136.3_Missense_Mutation_p.R4244H|PLEC_ENST00000356346.3_Missense_Mutation_p.R4230H|PLEC_ENST00000436759.2_Missense_Mutation_p.R4271H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4381	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGAACGGGAGCGGAAACCACC	0.667													30	67					0	0	0	0	T	144991258	C	T	144991258	3	4	356	1	0	0	0	0	1	0	0	0	12124	768	27	1	916	1	PLEC	8	144991258	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	5348312	144991258	1372764	269	66983											
PLEC	5339	broad.mit.edu	37	chr8	144997785	144997785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgccgccgggactgcgcCgcctcacgctccgcctgcac	4	5	11	21	6	1	0	1	0	0	0	2	1	2	1	7	1	3	2	7	1	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:144997785C>T	ENST00000322810.4	-	31	6892	c.6723G>A	c.(6721-6723)gcG>gcA	p.A2241A	PLEC_ENST00000354958.2_Silent_p.A2082A|PLEC_ENST00000527096.1_Silent_p.A2127A|PLEC_ENST00000354589.3_Silent_p.A2104A|PLEC_ENST00000357649.2_Silent_p.A2108A|PLEC_ENST00000398774.2_Silent_p.A2072A|PLEC_ENST00000345136.3_Silent_p.A2104A|PLEC_ENST00000356346.3_Silent_p.A2090A|PLEC_ENST00000436759.2_Silent_p.A2131A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2241	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGACTGCGCCGCCTCACGCT	0.756													14	12					0	0	0	0	T	144997785	C	T	144997785	2	4	356	1	0	0	0	0	0	0	0	1	12124	639	23	1		1	PLEC	8	144997785	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	6527	144997785	1366237	270	66984											
CYC1	1537	broad.mit.edu	37	chr8	145151100	145151100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacttcgtggcctaccgcCacctggtgggcgtgtgctac	4	10	14	13	3	0	0	0	0	0	0	1	1	0	1	4	4	3	1	4	4	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:145151100C>A	ENST00000318911.4	+	3	473	c.400C>A	c.(400-402)Cac>Aac	p.H134N		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	134	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCTACCGCCACCTGGTGGG	0.627											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	197					3.94839e-29	4.88773e-29	1	0	A	145151100	C	A	145151100	3	1	356	1	0	0	0	0	1	0	0	0	4167	594	21	4	410	4	CYC1	8	145151100	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	153315	145151100	1212922	271	66985											
RECQL4	9401	broad.mit.edu	37	chr8	145739865	145739865	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgcttcctggtcatgccCgagtgtatgcaggccgcctt	4	12	12	13	3	1	0	1	0	0	0	2	1	2	0	4	2	3	4	4	2	1	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:145739865C>A	ENST00000428558.2	-	10	1706	c.1665G>T	c.(1663-1665)tcG>tcT	p.S555S	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	555	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGGTCATGCCCGAGTGTATGC	0.667			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				11	35					9.31168e-06	9.79002e-06	1	0	A	145739865	C	A	145739865	2	1	356	1	0	0	0	0	0	0	0	1	13284	639	23	3		3	RECQL4	8	145739865	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	588765	145739865	624157	272	66986											
LRRC14	9684	broad.mit.edu	37	chr8	145745914	145745914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctgaggacctgcccatgCgcaacactgtggccctgctg	7	7	13	14	1	0	1	0	1	0	0	0	3	0	2	3	2	5	3	3	2	1	0	rs148279627		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:145745914C>T	ENST00000292524.1	+	3	768	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	LRRC14_ENST00000529022.1_Missense_Mutation_p.R208C	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	208										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTGCCCATGCGCAACACTGT	0.682													41	88					0	0	0	0	T	145745914	C	T	145745914	3	4	356	1	0	0	0	0	1	0	0	0	9032	768	27	1	628	1	LRRC14	8	145745914	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	6049	145745914	618108	273	66987											
JAK2	3717	broad.mit.edu	37	chr9	5055756	5055756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcaaatgaaagccgagttGtaactatccataagcaagat	16	10	8	7	1	1	2	1	1	0	1	2	3	2	2	2	0	3	4	2	0	6	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:5055756G>A	ENST00000381652.3	+	8	1518	c.1024G>A	c.(1024-1026)Gta>Ata	p.V342I	JAK2_ENST00000544510.1_Missense_Mutation_p.V193I|JAK2_ENST00000539801.1_Missense_Mutation_p.V342I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	342	FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AAGCCGAGTTGTAACTATCCA	0.294		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				9	23					0	0	0	0	A	5055756	G	A	5055756	3	1	356	1	0	0	0	0	1	0	0	0	7991	1377	48	4	1046	4	JAK2	9	5055756	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08		5055756	136157675	274	66988											
ERMP1	79956	broad.mit.edu	37	chr9	5810094	5810094	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacagacaaacggagacatAgaagtggttataccatgaga	18	7	10	6	1	0	4	0	1	0	4	0	6	0	4	1	2	3	1	1	2	6	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:5810094A>G	ENST00000339450.5	-	8	1554	c.1465T>C	c.(1465-1467)Tat>Cat	p.Y489H	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.Y67H|ERMP1_ENST00000381506.3_Missense_Mutation_p.Y265H	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	489					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		ACGGAGACATAGAAGTGGTTA	0.373													23	81					0	0	0	0	G	5810094	A	G	5810094	3	3	356	1	0	0	0	0	1	0	0	0	5274	420	15	5	1281	5	ERMP1	9	5810094	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	754338	5810094	135403337	275	66989											
TTC39B	158219	broad.mit.edu	37	chr9	15172092	15172092	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctggactccagggagtaAtctttgtagttgttcctgaa	9	14	11	7	0	2	1	0	1	2	0	4	3	4	3	2	2	0	4	2	2	3	5	rs140541523	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:15172092A>G	ENST00000355694.2	-	20	2010	c.1776T>C	c.(1774-1776)gaT>gaC	p.D592D	TTC39B_ENST00000380850.4_Silent_p.D645D|TTC39B_ENST00000512701.1_Silent_p.D658D|TTC39B_ENST00000507285.1_Silent_p.D493D|TTC39B_ENST00000297615.5_Silent_p.D589D|TTC39B_ENST00000507993.1_Silent_p.D493D	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	592							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CCAGGGAGTAATCTTTGTAGT	0.398													25	39					0	0	0	0	G	15172092	A	G	15172092	2	3	356	1	0	0	0	0	0	0	0	1	16804	98	4	5		5	TTC39B	9	15172092	Silent	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	9361998	15172092	126041339	276	66990											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18504910	18504910	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgaatgctcacgcacctgCgggggtggggcctcctactc	6	8	14	13	2	1	1	1	1	0	0	3	1	2	1	3	4	3	2	3	4	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:18504910C>T	ENST00000380548.4	+	2	486	c.147C>T	c.(145-147)tgC>tgT	p.C49C	ADAMTSL1_ENST00000327883.7_Silent_p.C49C|ADAMTSL1_ENST00000380570.4_Silent_p.C49C|ADAMTSL1_ENST00000380566.4_Silent_p.C49C|ADAMTSL1_ENST00000431052.2_Silent_p.C49C|ADAMTSL1_ENST00000276935.6_Silent_p.C49C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	49	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.C49C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CACGCACCTGCGGGGGTGGGG	0.617													16	46					0	0	0	0	T	18504910	C	T	18504910	2	4	356	1	0	0	0	0	0	0	0	1	274	776	27	1		1	ADAMTSL1	9	18504910	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3332818	18504910	122708521	277	66991											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777333	18777333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagcagggcggctggcccGgagagctgctggcctcgtgg	4	6	20	11	3	0	1	0	0	0	1	1	3	0	2	2	7	3	4	2	7	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:18777333G>A	ENST00000380548.4	+	19	3445	c.3106G>A	c.(3106-3108)Gga>Aga	p.G1036R		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1036						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGGCTGGCCCGGAGAGCTGCT	0.706													5	6					0	0	0	0	A	18777333	G	A	18777333	3	1	356	1	0	0	0	0	1	0	0	0	274	1117	39	1	3184	1	ADAMTSL1	9	18777333	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	272423	18777333	122436098	278	66992											
DMRTA1	63951	broad.mit.edu	37	chr9	22447589	22447589	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtcgggcatccgggggCggcggcagagccgagaatcc	6	4	20	11	5	0	2	0	0	0	2	3	3	2	2	3	7	1	2	3	7	1	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:22447589C>G	ENST00000325870.1	+	1	750	c.525C>G	c.(523-525)ggC>ggG	p.G175G		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	175					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CATCCGGGGGCGGCGGCAGAG	0.746													5	8					0	0	0	0	G	22447589	C	G	22447589	2	3	356	1	0	0	0	0	0	0	0	1	4625	755	27	3		3	DMRTA1	9	22447589	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3670256	22447589	118765842	279	66993											
BAG1	573	broad.mit.edu	37	chr9	33264312	33264312	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctcgtcccgggtcacctCctggctccgattcatctctt	3	13	7	18	3	3	0	2	0	1	0	9	1	7	0	5	2	0	1	5	2	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:33264312C>A	ENST00000472232.3	-	1	447	c.361G>T	c.(361-363)Gag>Tag	p.E121*	BAG1_ENST00000379704.2_Nonsense_Mutation_p.E6*	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314.5	Q99933	BAG1_HUMAN	BCL2-associated athanogene	121	7 X 6 AA tandem repeat of E-E-X(4).				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			CGGGTCACCTCCTGGCTCCGA	0.647													16	45					7.81268e-19	9.40585e-19	1	0	A	33264312	C	A	33264312	4	1	356	1	0	0	0	0	0	1	0	0	1290	864	30	2	704	2	BAG1	9	33264312	Nonsense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	10816723	33264312	107949119	280	66994											
GBA2	57704	broad.mit.edu	37	chr9	35737883	35737883	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgcaaaggcctggacGttcagctcaaagatagtttg	10	10	10	11	1	2	1	2	0	0	1	3	2	3	2	3	2	2	4	3	2	3	3	rs143345363	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:35737883G>A	ENST00000378094.4	-	16	2880	c.2367C>T	c.(2365-2367)aaC>aaT	p.N789N	GBA2_ENST00000378088.1_Silent_p.N90N|GBA2_ENST00000545786.1_Silent_p.N795N|GBA2_ENST00000378103.3_Silent_p.N789N			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	789					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGCCTGGACGTTCAGCTCAA	0.547													17	42					0	0	0	0	A	35737883	G	A	35737883	2	1	356	1	0	0	0	0	0	0	0	1	6316	1136	40	1		1	GBA2	9	35737883	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2473571	35737883	105475548	281	66995											
TMC1	117531	broad.mit.edu	37	chr9	75435995	75435995	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttttgattgtggtccattCaggtctcttgcttttgaaat	6	20	8	7	0	3	2	1	2	2	0	5	2	4	2	1	2	1	1	1	2	1	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:75435995C>T	ENST00000297784.5	+	20	2541	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Silent_p.F667F|TMC1_ENST00000340019.3_Silent_p.F667F	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	667					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GTGGTCCATTCAGGTCTCTTG	0.468													50	129					0	0	0	0	T	75435995	C	T	75435995	2	4	356	1	0	0	0	0	0	0	0	1	16078	825	29	2		2	TMC1	9	75435995	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	39698112	75435995	65777436	282	66996											
TLE4	7091	broad.mit.edu	37	chr9	82337412	82337412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagagtggcttgcagtggGgatggagaacagcaatgtgg	10	8	19	4	0	0	2	0	0	0	2	0	5	0	3	0	6	3	3	0	6	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:82337412G>T	ENST00000376520.4	+	19	2957	c.2129G>T	c.(2128-2130)gGg>gTg	p.G710V	TLE4_ENST00000376552.2_Missense_Mutation_p.G678V|TLE4_ENST00000376537.4_Missense_Mutation_p.G710V|TLE4_ENST00000265284.6_Missense_Mutation_p.G653V|TLE4_ENST00000376534.4_Missense_Mutation_p.G315V|TLE4_ENST00000376544.3_Missense_Mutation_p.G609V			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTTGCAGTGGGGATGGAGAAC	0.478													17	41					9.16793e-09	9.96302e-09	1	0	T	82337412	G	T	82337412	3	4	356	1	0	0	0	0	1	0	0	0	16035	1232	43	4	2103	4	TLE4	9	82337412	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	6901417	82337412	58876019	283	66997											
PTCH1	5727	broad.mit.edu	37	chr9	98232133	98232133	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatccagtctcctgtcctcGcgtcgatataaatccatgct	9	13	6	13	3	1	0	0	0	1	0	7	1	4	0	4	0	1	1	4	0	4	3	rs145690756		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:98232133G>A	ENST00000430669.2	-	13	2196	c.1611C>T	c.(1609-1611)cgC>cgT	p.R537R	PTCH1_ENST00000418258.1_Silent_p.R452R|PTCH1_ENST00000437951.1_Silent_p.R537R|PTCH1_ENST00000375274.2_Silent_p.R602R|PTCH1_ENST00000331920.6_Silent_p.R603R|PTCH1_ENST00000421141.1_Silent_p.R452R|PTCH1_ENST00000429896.2_Silent_p.R452R			Q13635	PTC1_HUMAN	patched 1	603	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.R602R(2)|p.R603R(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TCCTGTCCTCGCGTCGATATA	0.438													54	105					0	0	0	0	A	98232133	G	A	98232133	2	1	356	1	0	0	0	0	0	0	0	1	12809	1074	38	1		1	PTCH1	9	98232133	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	15894721	98232133	42981298	284	66998											
RNF20	56254	broad.mit.edu	37	chr9	104302630	104302630	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgatgcctcactattgaTtgtcaaccgatactggagtc	10	13	9	9	1	2	3	2	3	0	0	3	5	2	4	2	1	3	0	2	1	3	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:104302630T>C	ENST00000389120.3	+	3	365	c.275T>C	c.(274-276)aTt>aCt	p.I92T		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	92					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCACTATTGATTGTCAACCGA	0.408													6	147					0	0	0	0	C	104302630	T	C	104302630	3	2	356	1	0	0	0	0	1	0	0	0	13558	1493	52	5	281	5	RNF20	9	104302630	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	6070497	104302630	36910801	285	66999											
PPP3R2	5535	broad.mit.edu	37	chr9	104356920	104356920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtcgtaaatgctgaacGcaaacctcaacttctgctcc	11	10	6	14	2	2	1	1	1	1	0	4	1	3	1	3	0	5	4	3	0	5	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:104356920G>A	ENST00000374806.1	-	1	363	c.293C>T	c.(292-294)gCg>gTg	p.A98V	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	95	EF-hand 3.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	AATGCTGAACGCAAACCTCAA	0.532													4	122					0	0	0	0	A	104356920	G	A	104356920	3	1	356	1	0	0	0	0	1	0	0	0	12477	1087	38	1	232	1	PPP3R2	9	104356920	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	54290	104356920	36856511	286	67000											
OR13C4	138804	broad.mit.edu	37	chr9	107288624	107288624	+	Frame_Shift_Del	DEL	G	G	-																															tagattatggggtttaacatGggggtcacaaccccataaaa																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:107288624delG	ENST00000277216.3	-	1	866	c.867delC	c.(865-867)ccfs	p.P289fs		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGTTTAACATGGGGGTCACAA	0.403													20	34	---	---	---	---					-	107288624	G	-	107288624	7	5	356	1	0	1	0	1	0	0	0	0	11007	1335	47	0	91	0	OR13C4	9	107288624	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	2931704	107288624	33924807	287	67001											
FKBP15	23307	broad.mit.edu	37	chr9	115956325	115956325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctgatttgaaaggtattGatgtgggtggtgacacaaca	12	11	12	6	0	0	4	0	4	0	0	0	4	0	4	1	3	1	1	1	3	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:115956325G>A	ENST00000238256.3	-	10	1106	c.989C>T	c.(988-990)tCa>tTa	p.S330L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	330					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GAAAGGTATTGATGTGGGTGG	0.443													23	55					0	0	0	0	A	115956325	G	A	115956325	3	1	356	1	0	0	0	0	1	0	0	0	5950	1294	45	2	2746	2	FKBP15	9	115956325	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	8667701	115956325	25257106	288	67002											
MEGF9	1955	broad.mit.edu	37	chr9	123370118	123370118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagttgatgcactcacCactctcgggcttacaaatct	10	10	9	12	1	3	1	1	1	2	0	4	2	3	1	1	2	2	4	1	2	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:123370118C>T	ENST00000373930.3	-	5	1369	c.1258G>A	c.(1258-1260)Ggt>Agt	p.G420S	MEGF9_ENST00000426959.1_Missense_Mutation_p.G457S	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	420	Laminin EGF-like 5.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						ATGCACTCACCACTCTCGGGC	0.453													5	212					0	0	0	0	T	123370118	C	T	123370118	3	4	356	1	0	0	0	0	1	0	0	0	9533	594	21	4	558	4	MEGF9	9	123370118	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	7413793	123370118	17843313	289	67003											
DNM1	1759	broad.mit.edu	37	chr9	130982471	130982471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcacaggctacattggaGtggtgaaccggagccagaag	11	8	14	8	1	1	2	1	1	0	1	1	4	1	4	2	4	3	2	2	4	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:130982471G>T	ENST00000341179.7	+	6	792	c.700G>T	c.(700-702)Gtg>Ttg	p.V234L	DNM1_ENST00000475805.1_Missense_Mutation_p.V234L|DNM1_ENST00000372923.3_Missense_Mutation_p.V234L|DNM1_ENST00000393594.3_Missense_Mutation_p.V234L|DNM1_ENST00000486160.1_Missense_Mutation_p.V234L	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	234					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTACATTGGAGTGGTGAACCG	0.567													47	107					2.43139e-17	2.88757e-17	1	0	T	130982471	G	T	130982471	3	4	356	1	0	0	0	0	1	0	0	0	4706	1029	36	4	722	4	DNM1	9	130982471	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	7612353	130982471	10230960	290	67004											
ASB6	140459	broad.mit.edu	37	chr9	132400246	132400246	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctccagctgcctcaaggaGaagtggagggcctggatctt	8	9	13	11	0	3	1	1	0	2	1	4	4	3	3	3	4	2	1	3	4	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:132400246G>A	ENST00000277458.4	-	6	1254	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	ASB6_ENST00000450050.2_Silent_p.F284F|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	363	SOCS box.				intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GCCTCAAGGAGAAGTGGAGGG	0.592													20	51					0	0	0	0	A	132400246	G	A	132400246	2	1	356	1	0	0	0	0	0	0	0	1	1031	933	33	2		2	ASB6	9	132400246	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1417775	132400246	8813185	291	67005											
USP20	10868	broad.mit.edu	37	chr9	132630581	132630581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagcggatgaaggacCgcaagttctcctggggccag	11	5	16	9	2	1	2	0	1	1	1	2	5	1	5	3	5	1	2	3	5	3	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:132630581C>A	ENST00000315480.4	+	11	1146	c.988C>A	c.(988-990)Cgc>Agc	p.R330S	USP20_ENST00000358355.1_Missense_Mutation_p.R330S|USP20_ENST00000372429.3_Missense_Mutation_p.R330S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	330					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GATGAAGGACCGCAAGTTCTC	0.667													25	92					7.33532e-06	7.73864e-06	1	0	A	132630581	C	A	132630581	3	1	356	1	0	0	0	0	1	0	0	0	17148	652	23	3	1022	3	USP20	9	132630581	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	230335	132630581	8582850	292	67006											
GTF3C4	9329	broad.mit.edu	37	chr9	135553528	135553528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggtctcccatgggttgCgatgctaatggcaggtgcct	6	11	14	10	1	1	0	0	0	1	0	2	1	1	0	2	4	4	4	2	4	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:135553528C>T	ENST00000372146.4	+	2	1086	c.522C>T	c.(520-522)tgC>tgT	p.C174C	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	174					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CCATGGGTTGCGATGCTAATG	0.532													35	74					0	0	0	0	T	135553528	C	T	135553528	2	4	356	1	0	0	0	0	0	0	0	1	6925	776	27	1		1	GTF3C4	9	135553528	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2922947	135553528	5659903	293	67007											
GTF3C5	9328	broad.mit.edu	37	chr9	135917545	135917545	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatactgccacccagtgtgCgccaaccgcttcagtaccag	9	7	8	17	2	1	0	1	0	0	0	1	0	1	0	6	0	5	2	6	0	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:135917545C>T	ENST00000372097.5	+	2	548	c.225C>T	c.(223-225)tgC>tgT	p.C75C	GTF3C5_ENST00000342018.8_Silent_p.C75C|GTF3C5_ENST00000372099.6_Silent_p.C66C|GTF3C5_ENST00000372108.5_Silent_p.C75C|GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372095.5_Intron	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	75						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ACCCAGTGTGCGCCAACCGCT	0.612													33	79					0	0	0	0	T	135917545	C	T	135917545	2	4	356	1	0	0	0	0	0	0	0	1	6926	776	27	1		1	GTF3C5	9	135917545	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	364017	135917545	5295886	294	67008											
RALGDS	5900	broad.mit.edu	37	chr9	135985867	135985867	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaaggttcagggccgactCattctcatactggggtggga	10	10	13	8	1	3	0	3	0	1	0	4	2	3	1	1	5	1	1	1	5	3	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:135985867C>G	ENST00000393160.3	-	3	492	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	RALGDS_ENST00000372062.3_Missense_Mutation_p.E85Q|RALGDS_ENST00000542690.1_Missense_Mutation_p.E173Q|RALGDS_ENST00000372047.3_Missense_Mutation_p.E102Q|RALGDS_ENST00000372050.3_Missense_Mutation_p.E102Q|RALGDS_ENST00000393157.3_Missense_Mutation_p.E101Q	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	102					nerve growth factor receptor signaling pathway|Ras protein signal transduction|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)		AGGGCCGACTCATTCTCATAC	0.602			T	CIITA	"PMBL, Hodgkin Lymphona, "								14	39					0	0	0	0	G	135985867	C	G	135985867	3	3	356	1	0	0	0	0	1	0	0	0	13098	835	29	2	2504	2	RALGDS	9	135985867	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	68322	135985867	5227564	295	67009											
C9orf163	158055	broad.mit.edu	37	chr9	139379139	139379139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgccacgccagcagggccGcaggcggtgcagggagagct	7	3	18	13	4	0	1	0	0	0	1	0	2	0	1	3	4	4	4	3	4	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:139379139G>A	ENST00000354376.1	+	1	1193	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	80							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		CAGCAGGGCCGCAGGCGGTGC	0.652													17	31					0	0	0	0	A	139379139	G	A	139379139	3	1	356	1	0	0	0	0	1	0	0	0	2492	1087	38	1	241	1	C9orf163	9	139379139	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	3393272	139379139	1834292	296	67010											
NOTCH1	4851	broad.mit.edu	37	chr9	139399552	139399552	+	Frame_Shift_Del	DEL	G	G	-																															cttgcagtactggtcgtacaGggggctgtggggggcgggac																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:139399552delG	ENST00000277541.6	-	26	4666	c.4591delC	c.(4591-4593)tgfs	p.L1531fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1531					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGTCGTACAGGGGGCTGTGG	0.726			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			12	36	---	---	---	---					-	139399552	G	-	139399552	7	5	356	1	0	1	0	1	0	0	0	0	10617	991	35	0	3112	0	NOTCH1	9	139399552	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	20413	139399552	1813879	297	67011											
AGPAT2	10555	broad.mit.edu	37	chr9	139571981	139571981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcccgtaaaagtacttGaagcttcgcacgaaccagcc	12	6	10	13	4	0	1	0	1	0	0	1	3	0	2	3	1	5	4	3	1	5	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:139571981G>T	ENST00000371696.2	-	2	275	c.210C>A	c.(208-210)ttC>ttA	p.F70L	AGPAT2_ENST00000538402.1_Missense_Mutation_p.F70L|AGPAT2_ENST00000371694.3_Missense_Mutation_p.F70L	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	70					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		AAAAGTACTTGAAGCTTCGCA	0.657													20	42					3.51602e-12	3.95391e-12	1	0	T	139571981	G	T	139571981	3	4	356	1	0	0	0	0	1	0	0	0	387	1281	45	2	646	2	AGPAT2	9	139571981	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	172429	139571981	1641450	298	67012											
PNPLA7	375775	broad.mit.edu	37	chr9	140361907	140361907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccaaggccttgagaacGcccacctgggcacagcctct	8	6	10	17	2	1	1	0	1	1	1	2	2	2	1	6	2	2	1	6	2	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:140361907G>A	ENST00000406427.1	-	26	3237	c.2901C>T	c.(2899-2901)ggC>ggT	p.G967G	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Silent_p.G942G|PNPLA7_ENST00000371457.1_Silent_p.G548G	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	942	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCTTGAGAACGCCCACCTGGG	0.642													28	64					0	0	0	0	A	140361907	G	A	140361907	2	1	356	1	0	0	0	0	0	0	0	1	12242	1074	38	1		1	PNPLA7	9	140361907	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	789926	140361907	851524	299	67013											
TAF3	83860	broad.mit.edu	37	chr10	8006040	8006040	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgaagctgaagaactGccagccatgaagcggcctcg	11	6	12	12	2	0	4	0	3	0	1	2	4	1	4	4	1	5	1	4	1	4	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:8006040G>T	ENST00000344293.5	+	3	773	c.567G>T	c.(565-567)ctG>ctT	p.L189L		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	189					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTGAAGAACTGCCAGCCATGA	0.448													19	20					4.26978e-12	4.78402e-12	1	0	T	8006040	G	T	8006040	2	4	356	1	0	0	0	0	0	0	0	1	15616	1306	46	4		4	TAF3	10	8006040	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08		8006040	127528707	300	67014											
C1QL3	389941	broad.mit.edu	37	chr10	16562928	16562928	+	Frame_Shift_Del	DEL	G	G	-																															gcatgaggccgcggtcgggcGtggcagcggtgctgggcgcc																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:16562928delG	ENST00000298943.3	-	1	1076	c.137delC	c.(136-138)agfs	p.T46fs		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	46						collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCGGTCGGGCGTGGCAGCGGT	0.751													11	5	---	---	---	---					-	16562928	G	-	16562928	7	5	356	1	0	1	0	1	0	0	0	0	1979	1145	40	0	638	0	C1QL3	10	16562928	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	8556888	16562928	118971819	301	67015											
SLC39A12	221074	broad.mit.edu	37	chr10	18276462	18276462	+	Missense_Mutation	SNP	G	G	A																															cacactgggctccatgctggGgacagcgctggtccttttcc																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:18276462G>A	ENST00000377369.2	+	7	1424	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E	SLC39A12_ENST00000539911.1_Missense_Mutation_p.G250E|SLC39A12_ENST00000377374.4_Missense_Mutation_p.G384E|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G384E	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	384					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCCATGCTGGGGACAGCGCTG	0.562													31	22					0	0	0	0	A	18276462	G	A	18276462	3	1	356	1	0	0	0	0	1	0	0	0	14703	1232	43	4	1173	4	SLC39A12	10	18276462	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1713534	18276462	117258285	302	67016	823	2									
SLC39A12	221074	broad.mit.edu	37	chr10	18276463	18276463	+	Silent	SNP	G	G	T																															acactgggctccatgctgggGacagcgctggtccttttcca																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:18276463G>T	ENST00000377369.2	+	7	1425	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	SLC39A12_ENST00000539911.1_Silent_p.G250G|SLC39A12_ENST00000377374.4_Silent_p.G384G|SLC39A12_ENST00000377371.3_Silent_p.G384G	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	384					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCATGCTGGGGACAGCGCTGG	0.562													31	22					1.08312e-15	1.25954e-15	1	0	T	18276463	G	T	18276463	2	4	356	1	0	0	0	0	0	0	0	1	14703	1161	41	2		2	SLC39A12	10	18276463	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1	18276463	117258284	303	67017	823	2									
MYO3A	53904	broad.mit.edu	37	chr10	26462760	26462760	+	Frame_Shift_Del	DEL	A	A	-																															aacagagtgtatcagactccAaaaaaaatgaataatgtgta																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:26462760delA	ENST00000265944.5	+	30	3733	c.3567delA	c.(3565-3567)ccfs	p.P1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.M1192fs*1(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAGACTCCAAAAAAAATGA	0.403													14	34	---	---	---	---					-	26462760	A	-	26462760	7	5	356	1	0	1	0	1	0	0	0	0	10146	117	5	0	3677	0	MYO3A	10	26462760	Frame_Shift_Del	DEL	A	TCGA-CV-A6K1-01A-11D-A31L-08	8186297	26462760	109071987	304	67018											
ANKRD26	22852	broad.mit.edu	37	chr10	27337806	27337808	+	In_Frame_Del	DEL	CAT	CAT	-																															ctttcttttttgaattaatcCatcatcatcatcatcatctt																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:27337806_27337808delCAT	ENST00000376087.4	-	17	1901_1903	c.1736_1738delATG	c.(1735-1740)gga>g	p.DG579del	ANKRD26_ENST00000436985.2_In_Frame_Del_p.DG595del|ANKRD26_ENST00000376070.3_In_Frame_Del_p.DG136del	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	579	Poly-Asp.					centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGAATTAATCcatcatcatcatc	0.345													8	18	---	---	---	---					-	27337808	CAT	-	27337806	7	5	356	1	0	1	0	1	0	0	0	0	654	603	21	0	3466	0	ANKRD26	10	27337806	In_Frame_Del	DEL	CAT	TCGA-CV-A6K1-01A-11D-A31L-08	875046	27337806	108196941	305	67019											
SVIL	6840	broad.mit.edu	37	chr10	29747238	29747238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgggcagggcgttgtattCatccctcgtcatgtctagtg	5	12	14	10	3	3	0	2	0	1	0	5	0	4	0	1	3	0	3	1	3	2	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:29747238C>T	ENST00000375398.2	-	40	7032	c.6583G>A	c.(6583-6585)Gaa>Aaa	p.E2195K	PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.E2195K|SVIL_ENST00000535393.1_Missense_Mutation_p.E1109K|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.E1769K|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000430295.1_RNA			O95425	SVIL_HUMAN	supervillin	2195	HP.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCGTTGTATTCATCCCTCGTC	0.577													27	43					0	0	0	0	T	29747238	C	T	29747238	3	4	356	1	0	0	0	0	1	0	0	0	15511	835	29	2	65	2	SVIL	10	29747238	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2409432	29747238	105787509	306	67020											
CCDC7	221016	broad.mit.edu	37	chr10	32740782	32740782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtatgctttgcccattccatCgagtaagacaaagaacttac	13	11	7	10	1	0	2	0	0	0	2	2	3	1	2	2	0	4	3	2	0	5	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:32740782C>T	ENST00000545067.1	+	2	508	c.212C>T	c.(211-213)tCg>tTg	p.S71L	CCDC7_ENST00000535327.1_Missense_Mutation_p.S71L|CCDC7_ENST00000362006.5_Missense_Mutation_p.S71L|CCDC7_ENST00000537047.1_Missense_Mutation_p.S71L|CCDC7_ENST00000277657.6_Missense_Mutation_p.S71L|CCDC7_ENST00000539197.1_Missense_Mutation_p.S71L			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	71										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				CCCATTCCATCGAGTAAGACA	0.368													6	14					0	0	0	0	T	32740782	C	T	32740782	3	4	356	1	0	0	0	0	1	0	0	0	2869	893	31	1	214	1	CCDC7	10	32740782	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2993544	32740782	102793965	307	67021											
ERCC6	2074	broad.mit.edu	37	chr10	50691445	50691445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttcgaattttgtgtccttCgtccaagatcacatagtgcc	9	15	7	10	2	1	1	1	0	0	1	5	2	3	1	3	0	1	0	3	0	3	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:50691445C>T	ENST00000355832.5	-	9	2017	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	ERCC6_ENST00000542458.1_Missense_Mutation_p.E17K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	647	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGTGTCCTTCGTCCAAGATC	0.408								Direct reversal of damage;Nucleotide excision repair (NER)					24	57					0	0	0	0	T	50691445	C	T	50691445	3	4	356	1	0	0	0	0	1	0	0	0	5255	893	31	1	2594	1	ERCC6	10	50691445	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	17950663	50691445	84843302	308	67022											
JMJD1C	221037	broad.mit.edu	37	chr10	64977085	64977085	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctgtatccatttaaggaaTaaggaccttaaaaaaaacac	18	10	5	8	0	1	0	0	0	1	0	2	2	2	2	2	2	1	1	2	2	8	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:64977085T>C	ENST00000399262.2	-	5	778	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	JMJD1C_ENST00000542921.1_Missense_Mutation_p.Y5C|JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000399251.1_5'UTR|JMJD1C_ENST00000402544.1_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	187					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATTTAAGGAATAAGGACCTTA	0.363													12	30					0	0	0	0	C	64977085	T	C	64977085	3	2	356	1	0	0	0	0	1	0	0	0	8003	1406	49	5	7150	5	JMJD1C	10	64977085	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	14285640	64977085	70557662	309	67023											
LRRTM3	347731	broad.mit.edu	37	chr10	68686347	68686347	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaacaatacaaaggatgggTatgttttgtcatttttcttc	11	17	8	5	0	2	1	1	1	1	0	3	2	2	2	0	2	2	2	0	2	5	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:68686347T>C	ENST00000361320.4	+	1	582		c.e1+2		CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3							integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AAAGGATGGGTATGTTTTGTC	0.388													55	133					0	0	0	0	C	68686347	T	C	68686347	5	2	356	1	0	0	0	0	0	0	1	0	9105	1652	57	5	8	5	LRRTM3	10	68686347	Splice_Site	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	3709262	68686347	66848400	310	67024											
CTNNA3	29119	broad.mit.edu	37	chr10	68940199	68940199	+	Frame_Shift_Del	DEL	A	A	-																															ccagcagagcagccccactgAtaatggcttcaaggcgtttc																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:68940199delA	ENST00000433211.1	-	7	1097	c.923delT	c.(922-924)acfs	p.I308fs	CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000545309.1_Frame_Shift_Del_p.I308fs|CTNNA3_ENST00000373744.4_Frame_Shift_Del_p.I308fs	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	308					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGCCCCACTGATAATGGCTTC	0.473													27	57	---	---	---	---					-	68940199	A	-	68940199	7	5	356	1	0	1	0	1	0	0	0	0	4046	333	12	0	1812	0	CTNNA3	10	68940199	Frame_Shift_Del	DEL	A	TCGA-CV-A6K1-01A-11D-A31L-08	253852	68940199	66594548	311	67025											
DUSP13	51207	broad.mit.edu	37	chr10	76868871	76868871	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgctggggcaaggcgtGgctttgtcctctccccccag	5	9	14	13	1	1	0	0	0	1	0	3	1	2	1	4	5	1	3	4	5	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:76868871G>T	ENST00000372702.3	-	1	108	c.45C>A	c.(43-45)gcC>gcA	p.A15A	DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000372700.3_Silent_p.A15A|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000491677.2_5'UTR			Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	15						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGCAAGGCGTGGCTTTGTCCT	0.632													16	44					4.7546e-09	5.17611e-09	1	0	T	76868871	G	T	76868871	2	4	356	1	0	0	0	0	0	0	0	1	4849	1335	47	4		4	DUSP13	10	76868871	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	7928672	76868871	58665876	312	67026											
NRG3	10718	broad.mit.edu	37	chr10	84745264	84745264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagtgcaagcgaaaacaCagcctttctccccctgagtc	11	7	9	14	1	1	1	0	1	1	0	3	3	1	2	3	1	4	1	3	1	3	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:84745264C>T	ENST00000372142.2	+	11	1677	c.1403C>T	c.(1402-1404)aCa>aTa	p.T468I	NRG3_ENST00000404576.2_Missense_Mutation_p.T469I|NRG3_ENST00000372141.2_Missense_Mutation_p.T665I|NRG3_ENST00000404547.1_Missense_Mutation_p.T689I|NRG3_ENST00000556918.1_Missense_Mutation_p.T495I|NRG3_ENST00000545131.1_Missense_Mutation_p.T315I|NRG3_ENST00000537893.1_Missense_Mutation_p.T315I	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	689					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.T468K(1)|p.T665K(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGCGAAAACACAGCCTTTCTC	0.488													19	51					0	0	0	0	T	84745264	C	T	84745264	3	4	356	1	0	0	0	0	1	0	0	0	10720	478	17	4	2272	4	NRG3	10	84745264	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	7876393	84745264	50789483	313	67027											
MYOF	26509	broad.mit.edu	37	chr10	95168667	95168667	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccctcaatcactcggacGcggatctgcagcacagaagg	10	5	12	14	4	3	1	2	0	1	1	4	3	3	3	1	4	2	2	1	4	2	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:95168667G>A	ENST00000371501.4	-	7	728	c.606C>T	c.(604-606)cgC>cgT	p.R202R	MYOF_ENST00000358334.5_Silent_p.R202R|MYOF_ENST00000371502.4_Silent_p.R202R|MYOF_ENST00000359263.4_Silent_p.R202R|MYOF_ENST00000371489.1_Silent_p.R202R			Q9NZM1	MYOF_HUMAN	myoferlin	202	C2 2.|Necessary for interaction with EHD2.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCACTCGGACGCGGATCTGCA	0.512													43	92					0	0	0	0	A	95168667	G	A	95168667	2	1	356	1	0	0	0	0	0	0	0	1	10159	1074	38	1		1	MYOF	10	95168667	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	10423403	95168667	40366080	314	67028											
ITPRIP	85450	broad.mit.edu	37	chr10	106074553	106074553	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggaccggtcaggcggctCtgcttggagagcaggaagga	8	6	18	9	2	2	1	1	0	1	1	2	5	2	4	1	7	2	3	1	7	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:106074553C>T	ENST00000278071.2	-	3	1709	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q	ITPRIP_ENST00000337478.1_Silent_p.Q419Q|ITPRIP_ENST00000358187.2_Silent_p.Q419Q	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	419						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCAGGCGGCTCTGCTTGGAGA	0.652													15	23					0	0	0	0	T	106074553	C	T	106074553	2	4	356	1	0	0	0	0	0	0	0	1	7976	912	32	2		2	ITPRIP	10	106074553	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	10905886	106074553	29460194	315	67029											
ACSL5	51703	broad.mit.edu	37	chr10	114136094	114136094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctgaagccaccctgtctCtggaggaaccacgagcgagg	9	6	13	13	2	2	1	0	1	2	0	3	5	2	3	3	3	3	1	3	3	2	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:114136094C>T	ENST00000356116.1	+	1	139	c.27C>T	c.(25-27)ctC>ctT	p.L9L	ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000393081.1_Intron|ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000354273.4_5'UTR	NM_016234.3	NP_057318.2	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CACCCTGTCTCTGGAGGAACC	0.617													47	119					0	0	0	0	T	114136094	C	T	114136094	2	4	356	1	0	0	0	0	0	0	0	1	180	900	32	2		2	ACSL5	10	114136094	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	8061541	114136094	21398653	316	67030											
GRK5	2869	broad.mit.edu	37	chr10	121196339	121196339	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagaagacctccaccgtgaGaacaccgtctaccggtgagt	11	8	10	12	3	1	4	0	2	1	3	2	5	2	4	5	1	2	0	5	1	4	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:121196339G>A	ENST00000392870.2	+	9	1244	c.915G>A	c.(913-915)gaG>gaA	p.E305E	GRK5_ENST00000369108.3_Silent_p.E200E	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	305	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCCACCGTGAGAACACCGTCT	0.597													19	30					0	0	0	0	A	121196339	G	A	121196339	2	1	356	1	0	0	0	0	0	0	0	1	6842	933	33	2		2	GRK5	10	121196339	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	7060245	121196339	14338408	317	67031											
FGFR2	2263	broad.mit.edu	37	chr10	123256095	123256095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggccagctggtaggtgcatGacaccaagtccttgaaggtc	9	9	13	10	0	0	2	0	2	0	0	2	2	1	2	3	4	2	3	3	4	3	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:123256095G>A	ENST00000358487.5	-	13	2086	c.1814C>T	c.(1813-1815)tCa>tTa	p.S605L	FGFR2_ENST00000478859.1_Missense_Mutation_p.S377L|FGFR2_ENST00000360144.3_Missense_Mutation_p.S517L|FGFR2_ENST00000457416.2_Missense_Mutation_p.S606L|FGFR2_ENST00000369056.1_Missense_Mutation_p.S606L|FGFR2_ENST00000369059.1_Missense_Mutation_p.S491L|FGFR2_ENST00000369061.4_Missense_Mutation_p.S493L|FGFR2_ENST00000351936.6_Missense_Mutation_p.S603L|FGFR2_ENST00000346997.2_Missense_Mutation_p.S603L|FGFR2_ENST00000369060.4_Missense_Mutation_p.S489L|FGFR2_ENST00000356226.4_Missense_Mutation_p.S488L|FGFR2_ENST00000357555.5_Missense_Mutation_p.S516L	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	605	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTAGGTGCATGACACCAAGTC	0.517		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				106	251					0	0	0	0	A	123256095	G	A	123256095	3	1	356	1	0	0	0	0	1	0	0	0	5911	1294	45	2	779	2	FGFR2	10	123256095	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2059756	123256095	12278652	318	67032											
DOCK1	1793	broad.mit.edu	37	chr10	128776216	128776216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttgtgtttgtttagggtgGtaccgaggttacacgttacg	6	16	13	6	3	0	0	0	0	0	0	0	1	0	0	1	3	3	5	1	3	4	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:128776216G>C	ENST00000280333.6	+	3	244	c.135G>C	c.(133-135)tgG>tgC	p.W45C		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	45	SH3.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GTTTAGGGTGGTACCGAGGTT	0.388													45	96					0	0	0	0	C	128776216	G	C	128776216	3	2	356	1	0	0	0	0	1	0	0	0	4720	1270	44	4	145	4	DOCK1	10	128776216	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	5520121	128776216	6758531	319	67033											
STK32C	282974	broad.mit.edu	37	chr10	134038745	134038745	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggtccatacccatcctcGcagcagctcataggccatca	9	7	10	15	1	2	0	2	0	0	0	5	0	4	0	4	3	3	3	4	3	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:134038745G>A	ENST00000368622.1	-	7	898	c.517C>T	c.(517-519)Cga>Tga	p.R173*	STK32C_ENST00000368625.4_Nonsense_Mutation_p.R303*			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	290	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		ACCCATCCTCGCAGCAGCTCA	0.662													9	24					0	0	0	0	A	134038745	G	A	134038745	4	1	356	1	0	0	0	0	0	1	0	0	15389	1095	38	1	616	1	STK32C	10	134038745	Nonsense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	5262529	134038745	1496002	320	67034											
C11orf35	256329	broad.mit.edu	37	chr11	556881	556881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcaccagcgcttgctcGgaggaagcgcggtggtcccg	5	6	16	14	5	0	0	0	0	0	0	2	2	1	2	3	4	4	3	3	4	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:556881G>A	ENST00000329451.3	-	8	992	c.930C>T	c.(928-930)tcC>tcT	p.S310S		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	310										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGCTTGCTCGGAGGAAGCGC	0.701													7	13					0	0	0	0	A	556881	G	A	556881	2	1	356	1	0	0	0	0	0	0	0	1	1649	1103	39	1		1	C11orf35	11	556881	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08		556881	134449635	321	67035											
TALDO1	6888	broad.mit.edu	37	chr11	764345	764347	+	In_Frame_Del	DEL	ACA	ACA	-																															gaagtctttccgttggttgcAcaacgaggaccagatggctg																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:764345_764347delACA	ENST00000319006.3	+	7	1046_1048	c.893_895delACA	c.(892-897)cac>c	p.HN298del	TALDO1_ENST00000528097.1_In_Frame_Del_p.T298del			P37837	TALDO_HUMAN	transaldolase 1	298					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CGTTGGTTGCACAACGAGGACCA	0.557													23	64	---	---	---	---					-	764347	ACA	-	764345	7	5	356	1	0	1	0	1	0	0	0	0	15634	159	6	0	919	0	TALDO1	11	764345	In_Frame_Del	DEL	ACA	TCGA-CV-A6K1-01A-11D-A31L-08	207464	764345	134242171	322	67036											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1605932	1605932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaaccgcagccccccttgCagcctccacaggagccacag	11	3	9	18	1	0	1	0	0	0	1	1	2	1	2	7	1	5	2	7	1	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:1605932C>G	ENST00000382171.2	-	1	581	c.548G>C	c.(547-549)tGc>tCc	p.C183S	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	183	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCCTTGCAGCCTCCACA	0.682													4	63					0	0	0	0	G	1605932	C	G	1605932	3	3	356	1	0	0	0	0	1	0	0	0	8611	710	25	4	292	4	KRTAP5-1	11	1605932	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	841587	1605932	133400584	323	67037											
TRIM68	55128	broad.mit.edu	37	chr11	4624492	4624492	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccttccaggtggcagttcGtttcctttcaccaacttcaa	7	14	7	13	1	2	0	2	0	0	0	5	0	4	0	4	2	2	3	4	2	2	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:4624492G>A	ENST00000300747.5	-	3	794	c.505C>T	c.(505-507)Cga>Tga	p.R169*		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	169					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTGGCAGTTCGTTTCCTTTCA	0.522													9	111					0	0	0	0	A	4624492	G	A	4624492	4	1	356	1	0	0	0	0	0	1	0	0	16636	1153	40	1	972	1	TRIM68	11	4624492	Nonsense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	3018560	4624492	130382024	324	67038											
TRIM5	85363	broad.mit.edu	37	chr11	5688930	5688930	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacatacctttttatgacGccatccacaccctaggaaga	13	9	5	14	1	0	2	0	1	0	1	1	3	1	3	4	1	1	0	4	1	4	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:5688930G>A	ENST00000396847.3	-	5	991	c.756C>T	c.(754-756)ggC>ggT	p.G252G	TRIM5_ENST00000380027.1_Silent_p.G252G|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Silent_p.G252G|TRIM5_ENST00000380034.3_Silent_p.G252G|TRIM5_ENST00000305836.5_Intron			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	252					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTTTATGACGCCATCCACAC	0.398													16	47					0	0	0	0	A	5688930	G	A	5688930	2	1	356	1	0	0	0	0	0	0	0	1	16620	1074	38	1		1	TRIM5	11	5688930	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1064438	5688930	129317586	325	67039											
HPX	3263	broad.mit.edu	37	chr11	6459602	6459602	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttggaagaagaggacGccttcagcttgacattctcc	10	10	10	11	1	2	4	1	2	1	2	3	6	2	6	3	2	1	1	3	2	2	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:6459602G>A	ENST00000265983.3	-	5	574	c.474C>T	c.(472-474)ggC>ggT	p.G158G	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	158					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AGAAGAGGACGCCTTCAGCTT	0.502													69	144					0	0	0	0	A	6459602	G	A	6459602	2	1	356	1	0	0	0	0	0	0	0	1	7396	1074	38	1		1	HPX	11	6459602	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	770672	6459602	128546914	326	67040											
NLRP14	338323	broad.mit.edu	37	chr11	7064059	7064059	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgatgaactgaactttgccTttgaagaacctgagtttgca	11	13	9	8	1	0	5	0	4	0	1	1	6	0	5	2	0	5	2	2	0	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:7064059T>G	ENST00000299481.4	+	4	1148	c.802T>G	c.(802-804)Ttt>Gtt	p.F268V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	268	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAACTTTGCCTTTGAAGAACC	0.478													4	102					0	0	0	0	G	7064059	T	G	7064059	3	3	356	1	0	0	0	0	1	0	0	0	10546	1609	56	5	812	5	NLRP14	11	7064059	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	604457	7064059	127942457	327	67041											
NLRP14	338323	broad.mit.edu	37	chr11	7091526	7091526	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctctacaggttggaataCtgtggtttgacatctctctg	7	16	9	9	0	3	1	0	1	3	0	5	2	3	2	0	3	2	2	0	3	3	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:7091526C>A	ENST00000299481.4	+	11	3331	c.2985C>A	c.(2983-2985)taC>taA	p.Y995*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	995					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGTTGGAATACTGTGGTTTGA	0.378													12	29					1.08611e-07	1.1679e-07	1	0	A	7091526	C	A	7091526	4	1	356	1	0	0	0	0	0	1	0	0	10546	576	20	4	3023	4	NLRP14	11	7091526	Nonsense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	27467	7091526	127914990	328	67042											
PLEKHA7	144100	broad.mit.edu	37	chr11	16824587	16824587	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcttgttcacagaagaTgctcagtttgacctaaaagc	11	12	8	10	0	3	3	2	1	1	2	3	3	3	3	2	0	2	3	2	0	3	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:16824587T>C	ENST00000355661.3	-	15	2099	c.2089A>G	c.(2089-2091)Atc>Gtc	p.I697V	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.I697V|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.I697V			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	697					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCACAGAAGATGCTCAGTTTG	0.463													36	60					0	0	0	0	C	16824587	T	C	16824587	3	2	356	1	0	0	0	0	1	0	0	0	12133	1464	51	5	1312	5	PLEKHA7	11	16824587	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	9733061	16824587	118181929	329	67043											
SAAL1	113174	broad.mit.edu	37	chr11	18105248	18105248	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccatattttgtaagaccCgaatgaggctgtcaattaga	12	13	9	7	1	1	3	1	1	0	2	2	4	2	3	2	1	0	3	2	1	5	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:18105248C>A	ENST00000524803.1	-	10	1122	c.1073G>T	c.(1072-1074)cGg>cTg	p.R358L	SAAL1_ENST00000300013.4_Missense_Mutation_p.R357L|SAAL1_ENST00000529318.1_Missense_Mutation_p.R360L			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	358					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						TTGTAAGACCCGAATGAGGCT	0.363													14	23					0.0242445	0.0245646	1	0	A	18105248	C	A	18105248	3	1	356	1	0	0	0	0	1	0	0	0	13886	652	23	3	363	3	SAAL1	11	18105248	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1280661	18105248	116901268	330	67044											
NAV2	89797	broad.mit.edu	37	chr11	19914110	19914110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatccaaaccagtcacctccCcacccccaccgccaagcagc	12	3	4	22	1	1	0	1	0	0	0	3	0	3	0	9	0	3	1	9	0	3	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:19914110C>A	ENST00000396085.1	+	6	1262	c.901C>A	c.(901-903)Cca>Aca	p.P301T	NAV2_ENST00000527559.2_Missense_Mutation_p.P253T|NAV2_ENST00000360655.4_Missense_Mutation_p.P237T|NAV2_ENST00000396087.3_Missense_Mutation_p.P324T|NAV2_ENST00000349880.4_Missense_Mutation_p.P301T|NAV2_ENST00000540292.1_Missense_Mutation_p.P255T	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	324						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGTCACCTCCCCACCCCCACC	0.527													18	39					5.35267e-07	5.72567e-07	1	0	A	19914110	C	A	19914110	3	1	356	1	0	0	0	0	1	0	0	0	10254	623	22	4	1002	4	NAV2	11	19914110	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1808862	19914110	115092406	331	67045											
ANO5	203859	broad.mit.edu	37	chr11	22294383	22294383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcttttcctttggctcctCttcttgctctcataaataat	6	19	3	13	0	4	0	1	0	4	0	7	0	6	0	3	1	1	2	3	1	3	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:22294383C>T	ENST00000324559.8	+	19	2400	c.2083C>T	c.(2083-2085)Ctt>Ttt	p.L695F	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	695						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTGGCTCCTCTTCTTGCTCT	0.378													15	47					0	0	0	0	T	22294383	C	T	22294383	3	4	356	1	0	0	0	0	1	0	0	0	699	913	32	2	2157	2	ANO5	11	22294383	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2380273	22294383	112712133	332	67046											
GAS2	2620	broad.mit.edu	37	chr11	22707310	22707310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagaaattcaaggagaGcatggatgctaacaagccca	16	5	12	8	0	1	2	1	0	0	2	1	5	1	3	1	3	4	3	1	3	4	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:22707310G>A	ENST00000454584.2	+	3	547	c.242G>A	c.(241-243)aGc>aAc	p.S81N	GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000278187.3_Missense_Mutation_p.S81N|GAS2_ENST00000433790.1_Missense_Mutation_p.S81N	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	81	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTCAAGGAGAGCATGGATGCT	0.383													17	43					0	0	0	0	A	22707310	G	A	22707310	3	1	356	1	0	0	0	0	1	0	0	0	6294	971	34	4	248	4	GAS2	11	22707310	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	412927	22707310	112299206	333	67047											
SVIP	258010	broad.mit.edu	37	chr11	22848833	22848833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttctcttttcttgcaCagattgaacatctaaaattc	10	19	3	9	0	4	2	0	1	4	1	6	2	4	2	0	0	2	1	0	0	3	8			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:22848833C>T	ENST00000354193.4	-	3	255	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	SVIP_ENST00000533774.1_5'UTR	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	47						Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						TTTTCTTGCACAGATTGAACA	0.348													32	72					0	0	0	0	T	22848833	C	T	22848833	3	4	356	1	0	0	0	0	1	0	0	0	15512	478	17	4	102	4	SVIP	11	22848833	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	141523	22848833	112157683	334	67048											
LIN7C	55327	broad.mit.edu	37	chr11	27523058	27523058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacctttgcagtagcgttcGctctcacttcaggactgcta	7	14	8	12	2	2	0	2	0	1	0	4	1	2	1	1	1	4	5	1	1	3	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:27523058G>A	ENST00000278193.2	-	3	232	c.212C>T	c.(211-213)gCg>gTg	p.A71V	LIN7C_ENST00000524596.1_Intron	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	71					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction		p.A71V(1)		endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						AGTAGCGTTCGCTCTCACTTC	0.313													19	47					0	0	0	0	A	27523058	G	A	27523058	3	1	356	1	0	0	0	0	1	0	0	0	8867	1087	38	1	393	1	LIN7C	11	27523058	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	4674225	27523058	107483458	335	67049											
FSHB	2488	broad.mit.edu	37	chr11	30255303	30255303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcactgattgtactgtgcgaGgcctggggcccagctactgc	6	9	14	12	1	0	1	0	1	0	0	0	2	0	1	2	3	5	3	2	3	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:30255303G>A	ENST00000417547.1	+	3	385	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	FSHB_ENST00000533718.1_Missense_Mutation_p.G116S|FSHB_ENST00000254122.3_Missense_Mutation_p.G116S	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	116					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	TACTGTGCGAGGCCTGGGGCC	0.507													7	37					0	0	0	0	A	30255303	G	A	30255303	3	1	356	1	0	0	0	0	1	0	0	0	6120	1000	35	4	352	4	FSHB	11	30255303	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2732245	30255303	104751213	336	67050											
MADD	8567	broad.mit.edu	37	chr11	47345332	47345332	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaagacgaaggtgttgtgCttgtggcgtagaaatggctc	9	10	14	8	2	0	2	0	0	0	2	1	3	0	2	1	3	1	4	1	3	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:47345332C>T	ENST00000342922.4	+	28	4668	c.4311C>T	c.(4309-4311)tgC>tgT	p.C1437C	MADD_ENST00000311027.5_Silent_p.C1496C|MADD_ENST00000405573.2_Silent_p.C306C|MADD_ENST00000407859.3_Silent_p.C1414C|MADD_ENST00000349238.3_Silent_p.C1457C|MADD_ENST00000402799.1_Silent_p.C1394C|MADD_ENST00000395336.3_Silent_p.C1496C|MADD_ENST00000402192.2_Silent_p.C1436C|MADD_ENST00000406482.1_Silent_p.C1394C|MADD_ENST00000395344.3_Silent_p.C1390C	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1496					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGGTGTTGTGCTTGTGGCGTA	0.488													13	39					0	0	0	0	T	47345332	C	T	47345332	2	4	356	1	0	0	0	0	0	0	0	1	9217	805	28	4		4	MADD	11	47345332	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	17090029	47345332	87661184	337	67051											
OR4A5	81318	broad.mit.edu	37	chr11	51411544	51411544	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctctgaatttctcaacgtAtatattaaaggactcagcat	14	14	5	8	1	3	1	2	1	2	0	5	2	3	2	0	1	2	2	0	1	7	5	rs5011061		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:51411544A>G	ENST00000319760.6	-	1	904	c.852T>C	c.(850-852)taT>taC	p.Y284Y		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TTCTCAACGTATATATTAAAG	0.323													17	22					0	0	0	0	G	51411544	A	G	51411544	2	3	356	1	0	0	0	0	0	0	0	1	11114	456	16	5		5	OR4A5	11	51411544	Silent	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	4066212	51411544	83594972	338	67052											
OR4A16	81327	broad.mit.edu	37	chr11	55111114	55111114	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttctgttggtggtggcCatgattggaggttttgtgca	5	16	14	6	0	1	1	0	1	1	0	2	2	2	2	2	5	1	3	2	5	0	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:55111114C>A	ENST00000314721.2	+	1	488	c.438C>A	c.(436-438)gcC>gcA	p.A146A		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGGTGGTGGCCATGATTGGAG	0.463													25	74					8.24728e-16	9.64539e-16	1	0	A	55111114	C	A	55111114	2	1	356	1	0	0	0	0	0	0	0	1	11112	581	21	4		4	OR4A16	11	55111114	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3699570	55111114	79895402	339	67053											
MS4A15	219995	broad.mit.edu	37	chr11	60541334	60541334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaggggctatctggccGtgcttactatcttcactgtc	6	13	11	11	1	3	0	1	0	2	0	4	1	3	1	1	4	2	2	1	4	3	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:60541334G>A	ENST00000405633.3	+	6	602	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	MS4A15_ENST00000528170.1_Missense_Mutation_p.V134M|MS4A15_ENST00000337911.4_Missense_Mutation_p.V82M	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	175						integral to membrane	receptor activity	p.V82M(1)		breast(1)|large_intestine(2)|lung(3)	6						CTATCTGGCCGTGCTTACTAT	0.577													48	99					0	0	0	0	A	60541334	G	A	60541334	3	1	356	1	0	0	0	0	1	0	0	0	9929	1145	40	1	541	1	MS4A15	11	60541334	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	5430220	60541334	74465182	340	67054											
FADS2	9415	broad.mit.edu	37	chr11	61596024	61596024	+	Frame_Shift_Del	DEL	G	G	-																															aaatggtccatccagcacccGgggggccagcgggtcatcgg																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:61596024delG	ENST00000278840.4	+	1	792	c.162delG	c.(160-162)ccfs	p.P54fs	FADS2_ENST00000522056.1_Intron|FADS2_ENST00000521849.1_Frame_Shift_Del_p.P54fs|FADS2_ENST00000257261.6_Intron	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	54	Cytochrome b5 heme-binding.				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	p.Q57fs*22(1)		breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TCCAGCACCCGGGGGGCCAGC	0.607											OREG0021015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	70	---	---	---	---					-	61596024	G	-	61596024	7	5	356	1	0	1	0	1	0	0	0	0	5407	1103	39	0	164	0	FADS2	11	61596024	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	1054690	61596024	73410492	341	67055											
PLCB3	5331	broad.mit.edu	37	chr11	64027601	64027601	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtctctgggtgacgagggCctgaaccgaggcccctatgt	8	8	14	11	2	1	2	0	2	1	0	2	4	1	2	4	3	1	0	4	3	3	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:64027601C>T	ENST00000540288.1	+	14	1729	c.1626C>T	c.(1624-1626)ggC>ggT	p.G542G	PLCB3_ENST00000279230.6_Silent_p.G542G|PLCB3_ENST00000325234.5_Silent_p.G475G	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	542					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GTGACGAGGGCCTGAACCGAG	0.592													8	18					0	0	0	0	T	64027601	C	T	64027601	2	4	356	1	0	0	0	0	0	0	0	1	12101	726	26	4		4	PLCB3	11	64027601	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2431577	64027601	70978915	342	67056											
PYGM	5837	broad.mit.edu	37	chr11	64521785	64521785	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcagctcggggatggccagGgaggggtgggtgtcattgag	7	8	20	6	1	2	1	2	1	0	0	3	3	2	3	1	7	1	1	1	7	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:64521785G>T	ENST00000164139.3	-	9	1430	c.1032C>A	c.(1030-1032)tcC>tcA	p.S344S	PYGM_ENST00000377432.3_Silent_p.S256S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	344					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGATGGCCAGGGAGGGGTGGG	0.622													31	67					8.16721e-17	9.66217e-17	1	0	T	64521785	G	T	64521785	2	4	356	1	0	0	0	0	0	0	0	1	12944	1219	43	4		4	PYGM	11	64521785	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	494184	64521785	70484731	343	67057											
PCNXL3	399909	broad.mit.edu	37	chr11	65396297	65396297	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtggctcagactcggcCatgctgttcgtccaggccct	5	10	12	14	2	1	1	1	0	0	1	4	2	2	1	3	3	1	3	3	3	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:65396297C>A	ENST00000355703.3	+	24	4358	c.3819C>A	c.(3817-3819)gcC>gcA	p.A1273A		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1273						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CAGACTCGGCCATGCTGTTCG	0.677													11	14					6.81908e-15	7.85537e-15	1	0	A	65396297	C	A	65396297	2	1	356	1	0	0	0	0	0	0	0	1	11664	581	21	4		4	PCNXL3	11	65396297	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	874512	65396297	69610219	344	67058											
CTSW	1521	broad.mit.edu	37	chr11	65650578	65650578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttatggccccatcaccGtgaccatcaacatgaagccc	11	7	6	17	1	2	2	2	2	0	0	2	2	2	2	6	1	2	0	6	1	3	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:65650578G>A	ENST00000528419.1	+	8	788	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	CTSW_ENST00000307886.3_Missense_Mutation_p.V262M			P56202	CATW_HUMAN	cathepsin W	262					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCCCATCACCGTGACCATCAA	0.612													67	186					0	0	0	0	A	65650578	G	A	65650578	3	1	356	1	0	0	0	0	1	0	0	0	4074	1145	40	1	814	1	CTSW	11	65650578	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	254281	65650578	69355938	345	67059											
ADRBK1	156	broad.mit.edu	37	chr11	67052865	67052865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacaagccgcgctcgcccGtggtggagctgagcaaggtg	9	5	16	11	4	0	2	0	1	0	1	1	3	0	3	2	3	4	3	2	3	3	0	rs61763970		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:67052865G>A	ENST00000308595.5	+	21	2304	c.2014G>A	c.(2014-2016)Gtg>Atg	p.V672M	ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	672					activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCGCTCGCCCGTGGTGGAGCT	0.622													6	30					0	0	0	0	A	67052865	G	A	67052865	3	1	356	1	0	0	0	0	1	0	0	0	343	1145	40	1	2096	1	ADRBK1	11	67052865	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1402287	67052865	67953651	346	67060											
ANKRD13D	338692	broad.mit.edu	37	chr11	67069096	67069096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgccatccagcagagcctgCttgaagcgggcactgaggcg	8	6	14	13	3	0	3	0	2	0	1	2	3	1	3	3	2	4	3	3	2	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:67069096C>T	ENST00000447274.2	+	13	2400	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F	ANKRD13D_ENST00000308440.6_Missense_Mutation_p.L409F|ANKRD13D_ENST00000504236.1_3'UTR|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.L496F|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.L409F|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.L146F			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	409										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCAGAGCCTGCTTGAAGCGGG	0.662													28	58					0	0	0	0	T	67069096	C	T	67069096	3	4	356	1	0	0	0	0	1	0	0	0	644	797	28	4	1536	4	ANKRD13D	11	67069096	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	16231	67069096	67937420	347	67061											
CORO1B	57175	broad.mit.edu	37	chr11	67206256	67206256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccggctgtcagacaacacGttgcgccggctgatcttcag	7	8	13	13	4	3	2	2	1	1	1	3	2	3	2	2	3	2	3	2	3	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:67206256G>A	ENST00000393893.1	-	11	1333	c.1230C>T	c.(1228-1230)aaC>aaT	p.N410N	CORO1B_ENST00000341356.5_Silent_p.N410N|CORO1B_ENST00000539724.1_5'UTR	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	410					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CAGACAACACGTTGCGCCGGC	0.706													5	10					0	0	0	0	A	67206256	G	A	67206256	2	1	356	1	0	0	0	0	0	0	0	1	3784	1136	40	1		1	CORO1B	11	67206256	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	137160	67206256	67800260	348	67062											
CABP4	57010	broad.mit.edu	37	chr11	67225048	67225048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgggtctgcagtgggCggccgtgtggactttgagga	4	11	17	9	2	1	1	0	1	1	0	2	3	2	3	2	5	1	1	2	5	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:67225048C>T	ENST00000438189.2	+	5	575	c.231C>T	c.(229-231)ggC>ggT	p.G77G	CABP4_ENST00000325656.5_Silent_p.G182G			P57796	CABP4_HUMAN	calcium binding protein 4	182					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTGCAGTGGGCGGCCGTGTGG	0.622													4	9					0	0	0	0	T	67225048	C	T	67225048	2	4	356	1	0	0	0	0	0	0	0	1	2558	755	27	1		1	CABP4	11	67225048	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	18792	67225048	67781468	349	67063											
MRPL21	219927	broad.mit.edu	37	chr11	68664141	68664141	+	Frame_Shift_Del	DEL	C	C	-																															catctcattcaccttcttcaCgacctctgcaggggaaggcg																								rs140815939	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:68664141delC	ENST00000362034.2	-	4	247	c.238delG	c.(238-240)tgfs	p.V80fs	MRPL21_ENST00000450904.2_5'UTR|MRPL21_ENST00000567045.1_5'UTR	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	80					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACCTTCTTCACGACCTCTGCA	0.627													27	99	---	---	---	---					-	68664141	C	-	68664141	7	5	356	1	0	1	0	1	0	0	0	0	9857	536	19	0	395	0	MRPL21	11	68664141	Frame_Shift_Del	DEL	C	TCGA-CV-A6K1-01A-11D-A31L-08	1439093	68664141	66342375	350	67064											
CTTN	2017	broad.mit.edu	37	chr11	70271437	70271437	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccatgtcctgtctctgcaGaatgcgtcaacctttgagga	8	11	10	12	1	2	2	1	1	1	1	4	3	3	3	3	1	3	1	3	1	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:70271437G>A	ENST00000301843.8	+	13	1163		c.e13-1		CTTN_ENST00000538675.1_Splice_Site|CTTN_ENST00000376561.3_Splice_Site|CTTN_ENST00000346329.3_Splice_Site	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin							cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGTCTCTGCAGAATGCGTCAA	0.552													7	14					0	0	0	0	A	70271437	G	A	70271437	5	1	356	1	0	0	0	0	0	0	1	0	4076	956	33	2	999	2	CTTN	11	70271437	Splice_Site	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1607296	70271437	64735079	351	67065											
B3GNT6	192134	broad.mit.edu	37	chr11	76750627	76750627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgccgcaggtccctgactgCcaagactctggcctgcctcc	5	8	10	18	1	1	2	0	1	1	1	3	2	3	2	6	2	3	1	6	2	1	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:76750627C>T	ENST00000533140.1	+	2	170	c.32C>T	c.(31-33)gCc>gTc	p.A11V	B3GNT6_ENST00000421061.1_Missense_Mutation_p.A11V|B3GNT6_ENST00000354301.5_Missense_Mutation_p.A11V			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	11					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						TCCCTGACTGCCAAGACTCTG	0.642											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	158					0	0	0	0	T	76750627	C	T	76750627	3	4	356	1	0	0	0	0	1	0	0	0	1265	739	26	4	34	4	B3GNT6	11	76750627	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	6479190	76750627	58255889	352	67066											
TMEM126A	84233	broad.mit.edu	37	chr11	85365269	85365269	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttacaacagacttaacttaCagatgttttgtaagttttcc	12	16	5	8	0	0	2	0	0	0	2	1	2	1	2	1	0	4	3	1	0	5	8			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:85365269C>T	ENST00000304511.2	+	3	358	c.249C>T	c.(247-249)taC>taT	p.Y83Y	TMEM126A_ENST00000532180.1_Silent_p.Y13Y|TMEM126A_ENST00000528105.1_Silent_p.Y13Y	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN	transmembrane protein 126A	83						integral to membrane|mitochondrion				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ACTTAACTTACAGATGTTTTG	0.378													18	59					0	0	0	0	T	85365269	C	T	85365269	2	4	356	1	0	0	0	0	0	0	0	1	16132	489	17	4		4	TMEM126A	11	85365269	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	8614642	85365269	49641247	353	67067											
GRM5	2915	broad.mit.edu	37	chr11	88241840	88241840	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgggatacagagggccgActcggacactggcgagttgg	9	5	17	10	5	0	1	0	0	0	1	1	6	0	3	1	5	1	1	1	5	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:88241840A>G	ENST00000418177.2	-	10	3926	c.3559T>C	c.(3559-3561)Tcg>Ccg	p.S1187P	GRM5_ENST00000393297.1_Missense_Mutation_p.S917P|GRM5_ENST00000305432.5_Missense_Mutation_p.S1155P|GRM5_ENST00000305447.4_Missense_Mutation_p.S1187P|GRM5_ENST00000455756.2_Missense_Mutation_p.S1155P|GRM5-AS1_ENST00000526448.1_RNA			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1187					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CAGAGGGCCGACTCGGACACT	0.587													17	32					0	0	0	0	G	88241840	A	G	88241840	3	3	356	1	0	0	0	0	1	0	0	0	6850	275	10	5	83	5	GRM5	11	88241840	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	2876571	88241840	46764676	354	67068											
GRM5	2915	broad.mit.edu	37	chr11	88780452	88780452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatggcccttgcctgctGagcatctgaaggcacaaccc	9	7	9	16	0	1	2	0	2	1	0	1	2	1	2	4	2	4	3	4	2	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:88780452G>T	ENST00000418177.2	-	2	956	c.589C>A	c.(589-591)Cag>Aag	p.Q197K	GRM5_ENST00000393294.3_Missense_Mutation_p.Q197K|GRM5_ENST00000393297.1_Missense_Mutation_p.Q197K|GRM5_ENST00000305432.5_Missense_Mutation_p.Q197K|GRM5_ENST00000305447.4_Missense_Mutation_p.Q197K|GRM5_ENST00000455756.2_Missense_Mutation_p.Q197K			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	197					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTTGCCTGCTGAGCATCTGAA	0.458													20	56					1.2644e-06	1.34563e-06	1	0	T	88780452	G	T	88780452	3	4	356	1	0	0	0	0	1	0	0	0	6850	1299	45	2	3085	2	GRM5	11	88780452	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	538612	88780452	46226064	355	67069											
FOLH1B	219595	broad.mit.edu	37	chr11	89403521	89403522	+	RNA	INS	-	-	T																															tgttaaccagttttgttttgINSttttttttcaaagaatgtct																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:89403521_89403522insT	ENST00000532352.1	+	0	908							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTTTGTTTTGTTTTTTTTCAA	0.332													10	19	---	---	---	---					T	89403522	-	T	89403521	6	5	356	0	1	1	1	0	0	0	0	0	6025	1392	48	0		0	FOLH1B	11	89403521	RNA	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	623069	89403521	45602995	356	67070											
PIWIL4	143689	broad.mit.edu	37	chr11	94340739	94340739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggcatgatgatgagtatCgccaccaagatcgctatgca	12	8	11	10	2	0	4	0	3	0	1	2	4	0	4	2	1	1	4	2	1	3	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:94340739C>T	ENST00000299001.6	+	14	1984	c.1773C>T	c.(1771-1773)atC>atT	p.I591I	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	591	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGATGAGTATCGCCACCAAGA	0.448													20	45					0	0	0	0	T	94340739	C	T	94340739	2	4	356	1	0	0	0	0	0	0	0	1	12032	874	31	1		1	PIWIL4	11	94340739	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	4937218	94340739	40665777	357	67071											
MMP20	9313	broad.mit.edu	37	chr11	102477342	102477342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctggagtcacagaggtcagGgatggatggcttgtgatggg	8	9	19	5	0	2	2	2	1	0	1	2	5	2	5	0	6	0	2	0	6	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:102477342G>T	ENST00000260228.2	-	6	889	c.877C>A	c.(877-879)Cct>Act	p.P293T	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	293					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CAGAGGTCAGGGATGGATGGC	0.552													16	47					2.23348e-06	2.3685e-06	1	0	T	102477342	G	T	102477342	3	4	356	1	0	0	0	0	1	0	0	0	9728	1232	43	4	594	4	MMP20	11	102477342	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	8136603	102477342	32529174	358	67072											
DYNC2H1	79659	broad.mit.edu	37	chr11	103040868	103040868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactggtttatactccacTgacagacaagtgctacttaa	14	11	6	10	0	0	2	0	1	0	1	1	2	1	2	1	1	4	2	1	1	6	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:103040868T>C	ENST00000375735.2	+	33	5144	c.5000T>C	c.(4999-5001)cTg>cCg	p.L1667P	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L1667P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1667	AAA 1 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TATACTCCACTGACAGACAAG	0.388													3	30					0	0	0	0	C	103040868	T	C	103040868	3	2	356	1	0	0	0	0	1	0	0	0	4882	1580	55	5	5130	5	DYNC2H1	11	103040868	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	563526	103040868	31965648	359	67073											
HINFP	25988	broad.mit.edu	37	chr11	119003380	119003380	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttctctcagtgaatcactAtaagtgccctctgtgtgaca	9	13	8	11	0	4	2	2	2	2	0	5	2	4	2	1	0	1	1	1	0	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:119003380A>G	ENST00000350777.2	+	7	827	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	HINFP_ENST00000527410.1_Missense_Mutation_p.Y255C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	255					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGAATCACTATAAGTGCCCT	0.572													73	123					0	0	0	0	G	119003380	A	G	119003380	3	3	356	1	0	0	0	0	1	0	0	0	7160	449	16	5	786	5	HINFP	11	119003380	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	15962512	119003380	16003136	360	67074											
NLRX1	79671	broad.mit.edu	37	chr11	119045286	119045286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctctacttccagctccGcctcaaccagccgtactgcg	8	8	8	17	3	2	0	1	0	1	0	4	1	4	0	5	0	7	3	5	0	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:119045286G>A	ENST00000409109.1	+	6	1561	c.974G>A	c.(973-975)cGc>cAc	p.R325H	NLRX1_ENST00000292199.2_Missense_Mutation_p.R325H|NLRX1_ENST00000525863.1_Missense_Mutation_p.R325H|NLRX1_ENST00000409265.4_Missense_Mutation_p.R325H|NLRX1_ENST00000409991.1_Missense_Mutation_p.R325H			Q86UT6	NLRX1_HUMAN	NLR family member X1	325	NACHT.|Required for interaction with MAVS.			R -> C (in Ref. 4; BAG53014).	innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TTCCAGCTCCGCCTCAACCAG	0.602													55	104					0	0	0	0	A	119045286	G	A	119045286	3	1	356	1	0	0	0	0	1	0	0	0	10555	1087	38	1	992	1	NLRX1	11	119045286	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	41906	119045286	15961230	361	67075											
UBASH3B	84959	broad.mit.edu	37	chr11	122666900	122666900	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagcccggcccccagaagCgatgcctttttgtgtgtcgg	5	9	13	14	3	0	1	0	0	0	1	1	2	0	1	5	2	3	0	5	2	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:122666900C>T	ENST00000284273.5	+	8	1525	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	384	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCCCCAGAAGCGATGCCTTTT	0.547											OREG0021442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	91					0	0	0	0	T	122666900	C	T	122666900	4	4	356	1	0	0	0	0	0	1	0	0	16936	760	27	1	1180	1	UBASH3B	11	122666900	Nonsense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3621614	122666900	12339616	362	67076											
CRTAM	56253	broad.mit.edu	37	chr11	122726431	122726431	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgaatttgaaactgaTgggaagaaatgtaatactac	16	11	8	6	0	0	4	0	3	0	1	1	5	1	5	1	1	3	1	1	1	7	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:122726431T>C	ENST00000227348.4	+	5	566	c.519T>C	c.(517-519)gaT>gaC	p.D173D		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	173	Ig-like C2-type.		D -> G (in dbSNP:rs35136295).		cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TTGAAACTGATGGGAAGAAAT	0.423													24	60					0	0	0	0	C	122726431	T	C	122726431	2	2	356	1	0	0	0	0	0	0	0	1	3927	1461	51	5		5	CRTAM	11	122726431	Silent	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	59531	122726431	12280085	363	67077											
OR10G9	219870	broad.mit.edu	37	chr11	123894262	123894262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactatttgtgtgatgcaccGcccatcctgaaactggcctg	8	11	9	13	1	0	2	0	2	0	0	1	2	1	2	4	1	2	1	4	1	2	2	rs139965523		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:123894262G>A	ENST00000375024.1	+	1	543	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGATGCACCGCCCATCCTGA	0.542													75	130					0	0	0	0	A	123894262	G	A	123894262	2	1	356	1	0	0	0	0	0	0	0	1	10975	1074	38	1		1	OR10G9	11	123894262	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1167831	123894262	11112254	364	67078											
HYLS1	219844	broad.mit.edu	37	chr11	125770093	125770093	+	Frame_Shift_Del	DEL	G	G	-																															gaaaaggtctgcactccgttGgggtgttcgttgtgaccttg																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:125770093delG	ENST00000425380.2	+	3	1611	c.830delG	c.(829-831)tgfs	p.W277fs	HYLS1_ENST00000356438.3_Frame_Shift_Del_p.W277fs|HYLS1_ENST00000526028.1_Frame_Shift_Del_p.W277fs|PUS3_ENST00000227474.3_Intron	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	277						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GCACTCCGTTGGGGTGTTCGT	0.428													13	47	---	---	---	---					-	125770093	G	-	125770093	7	5	356	1	0	1	0	1	0	0	0	0	7522	1357	47	0	832	0	HYLS1	11	125770093	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	1875831	125770093	9236423	365	67079											
KIRREL3	84623	broad.mit.edu	37	chr11	126432787	126432787	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcaccagacagcatcCtctcttctggaggcccagct	8	7	9	17	0	2	1	0	0	2	1	4	2	3	2	4	2	3	3	4	2	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:126432787C>A	ENST00000525144.2	-	2	325	c.76G>T	c.(76-78)Gga>Tga	p.G26*	KIRREL3_ENST00000529097.2_Nonsense_Mutation_p.G26*|KIRREL3-AS1_ENST00000548204.1_RNA|KIRREL3_ENST00000525704.2_Nonsense_Mutation_p.G26*|KIRREL3_ENST00000533026.2_5'UTR	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	26					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AGACAGCATCCTCTCTTCTGG	0.567													20	61					1.40151e-16	1.64852e-16	1	0	A	126432787	C	A	126432787	4	1	356	1	0	0	0	0	0	1	0	0	8378	690	24	4	2431	4	KIRREL3	11	126432787	Nonsense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	662694	126432787	8573729	366	67080											
ETS1	2113	broad.mit.edu	37	chr11	128350255	128350255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacacgctgcaggctgttGaaagatgactggctgctcca	10	8	13	10	1	0	3	0	2	0	1	1	4	1	4	1	3	3	6	1	3	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:128350255G>T	ENST00000392668.3	-	8	1022	c.954C>A	c.(952-954)ttC>ttA	p.F318L	ETS1_ENST00000345075.4_Intron|ETS1_ENST00000526145.1_Intron|ETS1_ENST00000531611.1_Intron|ETS1_ENST00000535549.1_Missense_Mutation_p.F58L|ETS1_ENST00000319397.5_Missense_Mutation_p.F274L	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	274					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCAGGCTGTTGAAAGATGACT	0.552													10	66					5.16669e-11	5.73661e-11	1	0	T	128350255	G	T	128350255	3	4	356	1	0	0	0	0	1	0	0	0	5313	1281	45	2	515	2	ETS1	11	128350255	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1917468	128350255	6656261	367	67081											
ADAMTS8	11095	broad.mit.edu	37	chr11	130288963	130288963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggacctgtctggtgagcagGatggccgtgtcgtagtgctc	5	10	16	10	3	1	1	0	1	1	0	3	3	1	3	2	4	2	3	2	4	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:130288963G>C	ENST00000257359.6	-	2	1651	c.945C>G	c.(943-945)atC>atG	p.I315M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	315	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TGGTGAGCAGGATGGCCGTGT	0.627													44	134					0	0	0	0	C	130288963	G	C	130288963	3	2	356	1	0	0	0	0	1	0	0	0	272	1164	41	2	1756	2	ADAMTS8	11	130288963	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1938708	130288963	4717553	368	67082											
SPATA19	219938	broad.mit.edu	37	chr11	133715268	133715268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaagctgcttaccgaaCtggttattggtaggaaggga	11	9	12	9	1	0	0	0	0	0	0	0	3	0	2	3	4	4	4	3	4	6	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:133715268C>T	ENST00000299140.3	-	1	128	c.74G>A	c.(73-75)aGt>aAt	p.S25N	SPATA19_ENST00000532889.1_Missense_Mutation_p.S25N	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	25					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GCTTACCGAACTGGTTATTGG	0.423													20	43					0	0	0	0	T	133715268	C	T	133715268	3	4	356	1	0	0	0	0	1	0	0	0	15094	565	20	4	453	4	SPATA19	11	133715268	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3426305	133715268	1291248	369	67083											
NCAPD3	23310	broad.mit.edu	37	chr11	134073581	134073581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccaggatactctccgacGcactggtaacagtcaactcc	10	8	8	15	2	2	0	1	0	1	0	5	2	4	1	3	2	3	3	3	2	3	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:134073581G>A	ENST00000534548.2	-	11	1500	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	479					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACTCTCCGACGCACTGGTAAC	0.488													11	35					0	0	0	0	A	134073581	G	A	134073581	3	1	356	1	0	0	0	0	1	0	0	0	10276	1087	38	1	3160	1	NCAPD3	11	134073581	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	358313	134073581	932935	370	67084											
DCP1B	196513	broad.mit.edu	37	chr12	2064701	2064701	+	Frame_Shift_Del	DEL	T	T	-																															tggcagaggaactggttatcTtttttggctcagaacaggtt																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:2064701delT	ENST00000280665.6	-	6	627	c.548delA	c.(547-549)agfs	p.K183fs	DCP1B_ENST00000540622.1_Frame_Shift_Del_p.K57fs|DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000397173.4_Frame_Shift_Del_p.K81fs	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	183					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ACTGGTTATCTTTTTTGGCTC	0.378													43	110	---	---	---	---					-	2064701	T	-	2064701	7	5	356	1	0	1	0	1	0	0	0	0	4331	1609	56	0	1321	0	DCP1B	12	2064701	Frame_Shift_Del	DEL	T	TCGA-CV-A6K1-01A-11D-A31L-08		2064701	131787194	371	67085											
KCNA5	3741	broad.mit.edu	37	chr12	5153527	5153527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcccttgcctccgctgccgGacccgggagtgcggcccttg	2	7	15	17	4	0	0	0	0	0	0	1	2	1	2	6	4	3	1	6	4	0	2	rs144879674	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:5153527G>C	ENST00000252321.3	+	1	443	c.214G>C	c.(214-216)Gac>Cac	p.D72H		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	72	2 X 11 AA tandem repeat of D-[SP]-G-V-R- P-L-P-P-L-P.					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			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						TCCGCTGCCGGACCCGGGAGT	0.751													4	4					0	0	0	0	C	5153527	G	C	5153527	3	2	356	1	0	0	0	0	1	0	0	0	8059	1174	41	2	216	2	KCNA5	12	5153527	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	3088826	5153527	128698368	372	67086											
VWF	7450	broad.mit.edu	37	chr12	6103232	6103232	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgggagctgtcggggacaaGacactgctcctccaggatgg	8	7	16	10	1	0	1	0	0	0	1	3	4	2	4	2	5	2	2	2	5	1	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:6103232G>C	ENST00000261405.5	-	37	6648	c.6394C>G	c.(6394-6396)Ctt>Gtt	p.L2132V		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2132	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCGGGGACAAGACACTGCTCC	0.582													12	35					0	0	0	0	C	6103232	G	C	6103232	3	2	356	1	0	0	0	0	1	0	0	0	17342	942	33	2	2111	2	VWF	12	6103232	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	949705	6103232	127748663	373	67087											
CHD4	1108	broad.mit.edu	37	chr12	6692405	6692405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgtagttgacctgtttaCggattctttttcctttgccc	5	19	7	10	1	1	1	0	1	1	0	2	2	2	2	3	1	2	3	3	1	2	9			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:6692405C>T	ENST00000309577.6	-	26	4182	c.4019G>A	c.(4018-4020)cGt>cAt	p.R1340H	CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000357008.2_Missense_Mutation_p.R1340H|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.R1333H|CHD4_ENST00000544484.1_Missense_Mutation_p.R1337H			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1340					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GACCTGTTTACGGATTCTTTT	0.567													62	151					0	0	0	0	T	6692405	C	T	6692405	3	4	356	1	0	0	0	0	1	0	0	0	3356	536	19	1	1779	1	CHD4	12	6692405	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	589173	6692405	127159490	374	67088											
CD4	920	broad.mit.edu	37	chr12	6925525	6925525	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccctggcccttgaagcgaAaacaggaaagttgcatcagg	13	6	11	11	1	1	1	1	1	0	0	1	3	1	2	2	3	3	2	2	3	4	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:6925525A>C	ENST00000011653.4	+	6	1169	c.911A>C	c.(910-912)aAa>aCa	p.K304T		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	304	Ig-like C2-type 2.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTTGAAGCGAAAACAGGAAAG	0.622													7	22					0	0	0	0	C	6925525	A	C	6925525	3	2	356	1	0	0	0	0	1	0	0	0	3043	14	1	5	929	5	CD4	12	6925525	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	233120	6925525	126926370	375	67089											
ATN1	1822	broad.mit.edu	37	chr12	7047140	7047141	+	Frame_Shift_Del	DEL	GC	GC	-																															gtgcggcgcgaggccgagcaGcgcgcgcgcgaagaaaagga																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:7047140_7047141delGC	ENST00000356654.4	+	6	2664_2665	c.2427_2428delGC	c.(2425-2430)cagcfs	p.QR809fs	ATN1_ENST00000396684.2_Frame_Shift_Del_p.QR809fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	809	Ala/Arg-rich.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						AGGCCGAGCAGCGCGCGCGCGA	0.693											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					-	7047141	GC	-	7047140	7	5	356	1	0	1	0	1	0	0	0	0	1115	962	34	0	2445	0	ATN1	12	7047140	Frame_Shift_Del	DEL	GC	TCGA-CV-A6K1-01A-11D-A31L-08	121615	7047140	126804755	376	67090											
LRRK2	120892	broad.mit.edu	37	chr12	40629508	40629508	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaccttagatctcctccTaacttcaggtaatatgtgta	12	13	7	9	0	2	2	1	0	1	2	4	3	3	2	3	1	1	2	3	1	6	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:40629508T>A	ENST00000298910.7	+	4	486	c.428T>A	c.(427-429)cTa>cAa	p.L143Q	LRRK2_ENST00000343742.2_Missense_Mutation_p.L143Q	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	143					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GATCTCCTCCTAACTTCAGGT	0.294													11	40					0	0	0	0	A	40629508	T	A	40629508	3	1	356	1	0	0	0	0	1	0	0	0	9097	1522	53	5	442	5	LRRK2	12	40629508	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	33582368	40629508	93222387	377	67091											
COL2A1	1280	broad.mit.edu	37	chr12	48380126	48380126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acattcacttaactctttctCcagggggaccgatgggccca	9	10	9	13	1	3	0	1	0	2	0	4	2	3	1	3	3	1	0	3	3	1	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:48380126C>T	ENST00000380518.3	-	23	1684	c.1520G>A	c.(1519-1521)gGa>gAa	p.G507E	COL2A1_ENST00000337299.6_Missense_Mutation_p.G438E|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	507	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AACTCTTTCTCCAGGGGGACC	0.632													8	1					0	0	0	0	T	48380126	C	T	48380126	3	4	356	1	0	0	0	0	1	0	0	0	3717	855	30	2	3071	2	COL2A1	12	48380126	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	7750618	48380126	85471769	378	67092											
EIF4B	1975	broad.mit.edu	37	chr12	53400274	53400275	+	Frame_Shift_Ins	INS	-	-	C																															tccctctcccaacatggcggINScctcaggtgagcgagcagcc																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:53400274_53400275insC	ENST00000262056.9	+	1	333_334	c.7_8insC	c.(7-9)ctcfs	p.L3fs	EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Frame_Shift_Ins_p.L3fs|EIF4B_ENST00000416762.3_Frame_Shift_Ins_p.L3fs	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	3					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CAACATGGCGGCCTCAGGTGAG	0.614													117	85	---	---	---	---					C	53400275	-	C	53400274	7	5	356	1	0	1	1	0	0	0	0	0	5065	1203	42	0	9	0	EIF4B	12	53400274	Frame_Shift_Ins	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	5020148	53400274	80451621	379	67093											
LRP1	4035	broad.mit.edu	37	chr12	57603503	57603503	+	Frame_Shift_Del	DEL	C	C	-																															caccccttcagcatcgacgtCtttgaggattacatctatgg																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:57603503delC	ENST00000243077.3	+	80	12757	c.12291delC	c.(12289-12291)gtfs	p.V4097fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4097					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCATCGACGTCTTTGAGGATT	0.562													55	32	---	---	---	---					-	57603503	C	-	57603503	7	5	356	1	0	1	0	1	0	0	0	0	9015	900	32	0	12609	0	LRP1	12	57603503	Frame_Shift_Del	DEL	C	TCGA-CV-A6K1-01A-11D-A31L-08	4203229	57603503	76248392	380	67094											
MDM1	56890	broad.mit.edu	37	chr12	68720540	68720540	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcattattttccacatctGaagccccttcagctctggag	8	13	6	14	0	4	1	2	1	2	0	5	2	5	2	4	1	2	1	4	1	2	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:68720540G>T	ENST00000303145.7	-	3	481	c.395C>A	c.(394-396)tCa>tAa	p.S132*	MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000411698.2_Nonsense_Mutation_p.S132*|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000430606.2_Nonsense_Mutation_p.S132*	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	132						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTCCACATCTGAAGCCCCTTC	0.408													29	22					3.73148e-12	4.18853e-12	1	0	T	68720540	G	T	68720540	4	4	356	1	0	0	0	0	0	1	0	0	9481	1294	45	2	1968	2	MDM1	12	68720540	Nonsense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	11117037	68720540	65131355	381	67095											
PPFIA2	8499	broad.mit.edu	37	chr12	81688766	81688766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgatggcaccactcttcaCgttggctcggcaggctgcca	7	9	11	14	2	2	1	1	1	1	0	3	1	2	1	2	4	1	5	2	4	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:81688766C>T	ENST00000550584.2	-	23	3068	c.2773G>A	c.(2773-2775)Gtg>Atg	p.V925M	PPFIA2_ENST00000549325.1_Missense_Mutation_p.V910M|PPFIA2_ENST00000550359.2_Missense_Mutation_p.V772M|PPFIA2_ENST00000541017.1_Missense_Mutation_p.V142M|PPFIA2_ENST00000333447.7_Missense_Mutation_p.V910M|PPFIA2_ENST00000541570.2_Missense_Mutation_p.V492M|PPFIA2_ENST00000552948.1_Missense_Mutation_p.V925M|PPFIA2_ENST00000407050.4_Missense_Mutation_p.V851M|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.V925M|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549396.1_Missense_Mutation_p.V925M|PPFIA2_ENST00000443686.3_Missense_Mutation_p.V826M	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	851										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCACTCTTCACGTTGGCTCGG	0.413													20	13					0	0	0	0	T	81688766	C	T	81688766	3	4	356	1	0	0	0	0	1	0	0	0	12381	536	19	1	1036	1	PPFIA2	12	81688766	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	12968226	81688766	52163129	382	67096											
ANKS1B	56899	broad.mit.edu	37	chr12	99478762	99478762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagaattaaggattcCaatttccaacaaatcctgat	14	11	6	10	0	0	2	0	1	0	1	3	3	3	3	4	1	2	0	4	1	5	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:99478762C>T	ENST00000547776.2	-	16	2565	c.2566G>A	c.(2566-2568)Gga>Aga	p.G856R	ANKS1B_ENST00000329257.7_Missense_Mutation_p.G856R|ANKS1B_ENST00000549025.2_Missense_Mutation_p.G25R|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G82R|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G82R|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G432R|ANKS1B_ENST00000550693.2_Missense_Mutation_p.G82R|ANKS1B_ENST00000549558.2_Missense_Mutation_p.G82R|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G82R|ANKS1B_ENST00000547446.1_Missense_Mutation_p.G51R|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G82R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	856	SAM 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTAAGGATTCCAATTTCCAAC	0.378													10	6					0	0	0	0	T	99478762	C	T	99478762	3	4	356	1	0	0	0	0	1	0	0	0	688	603	21	4	1415	4	ANKS1B	12	99478762	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	17789996	99478762	34373133	383	67097											
CAMKK2	10645	broad.mit.edu	37	chr12	121687599	121687599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagggtaccttgatttcCggcaccacgatcctcgactc	8	9	9	15	3	0	1	0	1	0	0	4	3	2	1	5	2	1	2	5	2	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:121687599C>T	ENST00000324774.5	-	13	2142	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	CAMKK2_ENST00000412367.2_Silent_p.P438P|CAMKK2_ENST00000404169.3_Silent_p.P438P|CAMKK2_ENST00000402834.4_Silent_p.P438P|CAMKK2_ENST00000392473.2_Silent_p.P438P|CAMKK2_ENST00000392474.2_Silent_p.P438P|CAMKK2_ENST00000538733.1_Silent_p.P438P|CAMKK2_ENST00000545538.1_Silent_p.P225P|CAMKK2_ENST00000337174.3_Silent_p.P438P|CAMKK2_ENST00000446440.2_Silent_p.P438P|CAMKK2_ENST00000347034.2_Silent_p.P438P	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	438	Protein kinase.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTTGATTTCCGGCACCACGA	0.602													124	59					0	0	0	0	T	121687599	C	T	121687599	2	4	356	1	0	0	0	0	0	0	0	1	2632	639	23	1		1	CAMKK2	12	121687599	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	22208837	121687599	12164296	384	67098											
AACS	65985	broad.mit.edu	37	chr12	125587272	125587272	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaaagctcatcttctcTgtggaggctgttgtctataa	9	13	9	10	0	4	0	1	0	3	0	5	1	4	1	1	2	2	3	1	2	3	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:125587272T>C	ENST00000316519.6	+	6	824	c.618T>C	c.(616-618)tcT>tcC	p.S206S	AACS_ENST00000261686.6_Silent_p.S206S	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	206					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TCATCTTCTCTGTGGAGGCTG	0.502													160	93					0	0	0	0	C	125587272	T	C	125587272	2	2	356	1	0	0	0	0	0	0	0	1	9	1567	55	5		5	AACS	12	125587272	Silent	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	3899673	125587272	8264623	385	67099											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20244461	20244461	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggaccgtgtagtgtacaAgctgtagttctgaatgataa	11	13	12	5	1	1	2	0	2	1	0	1	3	1	3	1	1	2	5	1	1	6	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:20244461A>C	ENST00000361479.5	+	12	2483	c.2415A>C	c.(2413-2415)caA>caC	p.Q805H	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.Q805H	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	805					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GTAGTGTACAAGCTGTAGTTC	0.388													32	64					0	0	0	0	C	20244461	A	C	20244461	3	2	356	1	0	0	0	0	1	0	0	0	9797	69	3	5	2461	5	MPHOSPH8	13	20244461	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08		20244461	94925417	386	67100											
RNF17	56163	broad.mit.edu	37	chr13	25453369	25453369	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattatatgacgatgaacaGcatccagttcatatgccgtt	13	12	7	9	2	1	2	1	2	0	0	2	3	2	2	2	0	3	3	2	0	4	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:25453369G>A	ENST00000255324.5	+	35	4870	c.4818G>A	c.(4816-4818)caG>caA	p.Q1606Q	RNF17_ENST00000381921.1_Silent_p.Q1564Q|RNF17_ENST00000339524.3_Silent_p.Q616Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1606					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)		ACGATGAACAGCATCCAGTTC	0.398													15	39					0	0	0	0	A	25453369	G	A	25453369	2	1	356	1	0	0	0	0	0	0	0	1	13546	962	34	4		4	RNF17	13	25453369	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	5208908	25453369	89716509	387	67101											
BRCA2	675	broad.mit.edu	37	chr13	32972342	32972342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atattatcaaagtcctttatCactttgtatggccaaaagga	14	14	6	7	0	2	0	2	0	0	0	3	1	3	1	2	2	0	1	2	2	7	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:32972342C>T	ENST00000544455.1	+	27	9919	c.9692C>T	c.(9691-9693)tCa>tTa	p.S3231L	BRCA2_ENST00000380152.3_Missense_Mutation_p.S3231L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3231					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTCCTTTATCACTTTGTATG	0.343			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			26	83					0	0	0	0	T	32972342	C	T	32972342	3	4	356	1	0	0	0	0	1	0	0	0	1507	838	29	2	9794	2	BRCA2	13	32972342	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	7518973	32972342	82197536	388	67102											
MAB21L1	4081	broad.mit.edu	37	chr13	36050199	36050199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccggatagttttggcaatgGcagctttcctggcttggcat	6	13	12	10	1	0	0	0	0	0	0	1	1	1	1	2	5	1	6	2	5	2	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:36050199G>A	ENST00000379919.4	-	1	633	c.77C>T	c.(76-78)gCc>gTc	p.A26V	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	26					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TTTGGCAATGGCAGCTTTCCT	0.502													38	94					0	0	0	0	A	36050199	G	A	36050199	3	1	356	1	0	0	0	0	1	0	0	0	9206	1203	42	4	1006	4	MAB21L1	13	36050199	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	3077857	36050199	79119679	389	67103											
SOHLH2	54937	broad.mit.edu	37	chr13	36744834	36744834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttagaataatatctgacaGtatgcaaggaattcagagac	16	11	8	6	0	2	3	1	1	1	2	2	5	2	4	0	1	1	2	0	1	7	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:36744834G>A	ENST00000379881.3	-	10	1179	c.1091C>T	c.(1090-1092)aCt>aTt	p.T364I	SOHLH2_ENST00000554962.1_Missense_Mutation_p.T441I|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.T441I	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		ATATCTGACAGTATGCAAGGA	0.428													42	93					0	0	0	0	A	36744834	G	A	36744834	3	1	356	1	0	0	0	0	1	0	0	0	15012	1029	36	4	194	4	SOHLH2	13	36744834	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	694635	36744834	78425044	390	67104											
ALG5	29880	broad.mit.edu	37	chr13	37539850	37539850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccatacatgagaagagtaCggaagtaagaacgctgaaaa	19	5	10	7	2	0	4	0	2	0	3	0	6	0	5	1	1	3	3	1	1	8	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:37539850C>A	ENST00000239891.3	-	8	701	c.635G>T	c.(634-636)cGt>cTt	p.R212L	ALG5_ENST00000443765.1_Missense_Mutation_p.R182L|ALG5_ENST00000413537.2_3'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	212					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	p.R212H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GAGAAGAGTACGGAAGTAAGA	0.393													17	47					5.03518e-11	5.60073e-11	1	0	A	37539850	C	A	37539850	3	1	356	1	0	0	0	0	1	0	0	0	521	536	19	3	351	3	ALG5	13	37539850	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	795016	37539850	77630028	391	67105											
THSD1	55901	broad.mit.edu	37	chr13	52971385	52971385	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgtatttctctgaattaGcatgcactcctcctttgcag	8	15	6	12	0	1	1	0	1	1	0	4	1	3	1	3	0	3	4	3	0	3	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:52971385G>A	ENST00000349258.4	-	3	1547	c.1003C>T	c.(1003-1005)Cta>Tta	p.L335L	THSD1_ENST00000258613.4_Silent_p.L335L|THSD1_ENST00000544466.1_Intron	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	335						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCTGAATTAGCATGCACTCC	0.303													11	48					0	0	0	0	A	52971385	G	A	52971385	2	1	356	1	0	0	0	0	0	0	0	1	15971	962	34	4		4	THSD1	13	52971385	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	15431535	52971385	62198493	392	67106											
DIAPH3	81624	broad.mit.edu	37	chr13	60545113	60545113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcccaggggaggtggtggaGgcacaggaccactgaatggc	10	5	17	9	0	0	1	0	1	0	0	1	4	1	4	2	8	0	1	2	8	1	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:60545113G>T	ENST00000400324.4	-	16	2052	c.1832C>A	c.(1831-1833)cCt>cAt	p.P611H	DIAPH3_ENST00000400319.1_Missense_Mutation_p.P541H|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P565H|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P600H|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P611H|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P611H	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	611	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGGTGGTGGAGGCACAGGACC	0.557													20	54					1.50039e-11	1.67498e-11	1	0	T	60545113	G	T	60545113	3	4	356	1	0	0	0	0	1	0	0	0	4557	1000	35	4	1821	4	DIAPH3	13	60545113	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	7573728	60545113	54624765	393	67107											
TDRD3	81550	broad.mit.edu	37	chr13	61103347	61103347	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcactttattgggaagacaAcaaggtatggatgctttaaa	14	12	10	5	0	0	1	0	0	0	1	0	3	0	3	0	3	3	3	0	3	7	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:61103347A>G	ENST00000196169.3	+	11	2497	c.1709A>G	c.(1708-1710)aAc>aGc	p.N570S	TDRD3_ENST00000535286.1_Missense_Mutation_p.N663S|TDRD3_ENST00000377881.2_Missense_Mutation_p.N570S|TDRD3_ENST00000377894.2_Missense_Mutation_p.N570S	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	570	Tudor.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGGGAAGACAACAAGGTATGG	0.333													32	63					0	0	0	0	G	61103347	A	G	61103347	3	3	356	1	0	0	0	0	1	0	0	0	15826	43	2	5	2030	5	TDRD3	13	61103347	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	558234	61103347	54066531	394	67108											
MYO16	23026	broad.mit.edu	37	chr13	109779932	109779932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacccagcctcgtgttcCgggctcgcgcatgctctgac	5	8	13	15	4	1	1	0	1	1	0	4	2	2	2	3	2	2	4	3	2	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:109779932C>G	ENST00000457511.2	+	19	2826	c.2555C>G	c.(2554-2556)cCg>cGg	p.P852R	MYO16_ENST00000356711.2_Intron|MYO16_ENST00000357550.2_Intron			Q9Y6X6	MYO16_HUMAN	myosin XVI	1827	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTCGTGTTCCGGGCTCGCGC	0.602													5	15					0	0	0	0	G	109779932	C	G	109779932	3	3	356	1	0	0	0	0	1	0	0	0	10134	667	23	3		3	MYO16	13	109779932	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	48676585	109779932	5389946	395	67109											
OR11H12	440153	broad.mit.edu	37	chr14	19377681	19377681	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaatgaatttatactcCaaggtttcacttgtgagtgg	11	16	9	5	0	1	2	1	2	0	0	2	2	2	2	1	2	1	2	1	2	6	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:19377681C>A	ENST00000550708.1	+	1	160	c.88C>A	c.(88-90)Caa>Aaa	p.Q30K		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTATACTCCAAGGTTTCAC	0.413													29	83					1.2476e-16	1.47313e-16	1	0	A	19377681	C	A	19377681	3	1	356	1	0	0	0	0	1	0	0	0	10998	595	21	4	90	4	OR11H12	14	19377681	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08		19377681	87971859	396	67110											
TEP1	7011	broad.mit.edu	37	chr14	20874441	20874441	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctggatgagattcagagTctccagaggtgagcttcacg	9	10	13	9	1	4	4	2	2	2	3	5	6	4	5	1	2	1	2	1	2	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:20874441T>C	ENST00000262715.5	-	3	726	c.686A>G	c.(685-687)gAc>gGc	p.D229G	TEP1_ENST00000556935.1_Missense_Mutation_p.D229G	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	229	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGATTCAGAGTCTCCAGAGGT	0.493													29	62					0	0	0	0	C	20874441	T	C	20874441	3	2	356	1	0	0	0	0	1	0	0	0	15853	1667	58	5	7409	5	TEP1	14	20874441	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	1496760	20874441	86475099	397	67111											
RNASE9	390443	broad.mit.edu	37	chr14	21025078	21025078	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcgggccctgtactaaaaaAtttttccaaacactcttcaa	13	11	6	11	1	2	0	1	0	1	0	3	0	3	0	2	2	2	1	2	2	6	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:21025078A>T	ENST00000557068.1	-	4	1876	c.151T>A	c.(151-153)Ttt>Att	p.F51I	RNASE9_ENST00000553706.1_Missense_Mutation_p.F56I|RNASE9_ENST00000553541.1_Missense_Mutation_p.F51I|RNASE9_ENST00000557209.1_Missense_Mutation_p.F56I|RNASE9_ENST00000429244.2_Missense_Mutation_p.F51I|RNASE9_ENST00000556208.1_Missense_Mutation_p.F56I|RNASE9_ENST00000404716.3_Missense_Mutation_p.F56I|RNASE9_ENST00000555230.1_Missense_Mutation_p.F51I|RNASE9_ENST00000338904.3_Missense_Mutation_p.F51I|RNASE9_ENST00000554964.1_Missense_Mutation_p.F51I			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	51						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.F51I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GTACTAAAAAATTTTTCCAAA	0.403													26	62					0	0	0	0	T	21025078	A	T	21025078	3	4	356	1	0	0	0	0	1	0	0	0	13495	101	4	5	470	5	RNASE9	14	21025078	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	150637	21025078	86324462	398	67112											
RNASE12	493901	broad.mit.edu	37	chr14	21058544	21058544	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggcagggtatcttgtGccttcaatgagctgacagac	9	10	12	10	0	2	3	1	2	1	1	2	3	2	3	1	2	3	4	1	2	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:21058544G>A	ENST00000556526.1	-	1	438	c.339C>T	c.(337-339)ggC>ggT	p.G113G	RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|AL163195.3_ENST00000555283.1_RNA|RNASE11_ENST00000335950.4_5'UTR	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	113						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		GGTATCTTGTGCCTTCAATGA	0.463													30	64					0	0	0	0	A	21058544	G	A	21058544	2	1	356	1	0	0	0	0	0	0	0	1	13487	1306	46	4		4	RNASE12	14	21058544	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	33466	21058544	86290996	399	67113											
MYH6	4624	broad.mit.edu	37	chr14	23866797	23866797	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatgagccctttttcttGcctcctttgcttttaccact	6	17	6	12	0	1	1	0	1	1	0	2	2	2	2	4	1	4	1	4	1	2	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:23866797G>A	ENST00000405093.3	-	16	1987	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G	MYH6_ENST00000356287.3_Silent_p.G639G	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	639	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTTTTTCTTGCCTCCTTTGC	0.562													23	32					0	0	0	0	A	23866797	G	A	23866797	2	1	356	1	0	0	0	0	0	0	0	1	10108	1306	46	4		4	MYH6	14	23866797	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2808253	23866797	83482743	400	67114											
CPNE6	9362	broad.mit.edu	37	chr14	24546501	24546501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctgacttctctgacatgCggctgctggatggcgacgac	7	10	13	11	3	1	2	0	2	1	0	2	5	1	3	0	3	3	3	0	3	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:24546501C>T	ENST00000397016.2	+	16	1749	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	CPNE6_ENST00000537691.1_Missense_Mutation_p.R535W|CPNE6_ENST00000216775.2_Missense_Mutation_p.R480W			O95741	CPNE6_HUMAN	copine VI (neuronal)	480	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CTCTGACATGCGGCTGCTGGA	0.627													37	23					0	0	0	0	T	24546501	C	T	24546501	3	4	356	1	0	0	0	0	1	0	0	0	3846	759	27	1	1492	1	CPNE6	14	24546501	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	679704	24546501	82803039	401	67115											
STRN3	29966	broad.mit.edu	37	chr14	31364640	31364640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaaatactttggcaagagCatcagctcctgcactagcta	13	10	7	11	0	1	1	1	0	0	1	2	1	2	1	1	1	6	5	1	1	6	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:31364640C>T	ENST00000355683.5	-	16	2334	c.2119G>A	c.(2119-2121)Gct>Act	p.A707T	STRN3_ENST00000357479.5_Missense_Mutation_p.A791T	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	791					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTGGCAAGAGCATCAGCTCCT	0.388													3	11					0	0	0	0	T	31364640	C	T	31364640	3	4	356	1	0	0	0	0	1	0	0	0	15420	710	25	4	26	4	STRN3	14	31364640	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	6818139	31364640	75984900	402	67116											
STRN3	29966	broad.mit.edu	37	chr14	31364661	31364661	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcagctcctgcactagctaTatatgcttttgacgagtgga	10	13	9	9	1	1	1	1	1	0	0	2	3	2	2	1	1	4	4	1	1	4	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:31364661T>G	ENST00000355683.5	-	16	2313	c.2098A>C	c.(2098-2100)Ata>Cta	p.I700L	STRN3_ENST00000357479.5_Missense_Mutation_p.I784L	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	784					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GCACTAGCTATATATGCTTTT	0.378													6	12					0	0	0	0	G	31364661	T	G	31364661	3	3	356	1	0	0	0	0	1	0	0	0	15420	1406	49	5	47	5	STRN3	14	31364661	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	21	31364661	75984879	403	67117											
SEC23A	10484	broad.mit.edu	37	chr14	39554995	39554995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctacagctatggaaagtgCcaccccagaggaacgcaaag	14	5	10	12	1	0	1	0	0	0	1	1	3	1	3	4	2	4	2	4	2	5	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:39554995C>T	ENST00000537403.1	-	3	1395	c.193G>A	c.(193-195)Gca>Aca	p.A65T	SEC23A_ENST00000545328.2_Missense_Mutation_p.A238T|SEC23A_ENST00000536508.1_Missense_Mutation_p.A141T|SEC23A_ENST00000307712.6_Missense_Mutation_p.A267T			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	267					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	p.A267T(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ATGGAAAGTGCCACCCCAGAG	0.488													47	48					0	0	0	0	T	39554995	C	T	39554995	3	4	356	1	0	0	0	0	1	0	0	0	14078	739	26	4	1554	4	SEC23A	14	39554995	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	8190334	39554995	67794545	404	67118											
KIAA0586	9786	broad.mit.edu	37	chr14	58943858	58943858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtagagcaagaaataaTgtcaagaattatctctgggc	15	9	11	6	0	2	3	1	0	1	3	3	3	2	3	0	2	1	2	0	2	7	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:58943858T>C	ENST00000423743.3	+	21	2969	c.2711T>C	c.(2710-2712)aTg>aCg	p.M904T	KIAA0586_ENST00000261244.5_Missense_Mutation_p.M872T|KIAA0586_ENST00000556134.1_Missense_Mutation_p.M933T|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.M1001T	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	872										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAAGAAATAATGTCAAGAATT	0.398													2	1					0	0	0	0	C	58943858	T	C	58943858	3	2	356	1	0	0	0	0	1	0	0	0	8237	1464	51	5	2689	5	KIAA0586	14	58943858	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	19388863	58943858	48405682	405	67119											
PCNX	22990	broad.mit.edu	37	chr14	71575657	71575657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactctcgtgggctttcttgCgacagagggaggtcagagca	8	9	14	10	2	3	2	1	0	2	2	4	4	3	3	0	3	2	2	0	3	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:71575657C>T	ENST00000304743.2	+	34	7084	c.6638C>T	c.(6637-6639)gCg>gTg	p.A2213V	PCNX_ENST00000238570.5_Missense_Mutation_p.A2141V|PCNX_ENST00000439984.3_Missense_Mutation_p.A2102V|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2213						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCTTTCTTGCGACAGAGGGA	0.567													34	33					0	0	0	0	T	71575657	C	T	71575657	3	4	356	1	0	0	0	0	1	0	0	0	11662	768	27	1	6772	1	PCNX	14	71575657	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	12631799	71575657	35773883	406	67120											
TTLL5	23093	broad.mit.edu	37	chr14	76231057	76231057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaagctcctgtctctggaGgtgcgaaaacgtagacgacg	11	7	14	9	4	1	1	0	0	1	1	3	5	2	3	1	3	3	2	1	3	4	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:76231057G>T	ENST00000298832.9	+	19	1855	c.1650G>T	c.(1648-1650)gaG>gaT	p.E550D	TTLL5_ENST00000554510.1_Missense_Mutation_p.E59D|TTLL5_ENST00000556893.1_Missense_Mutation_p.E101D|TTLL5_ENST00000557636.1_Missense_Mutation_p.E564D|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	550					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGTCTCTGGAGGTGCGAAAAC	0.502													35	26					4.11147e-13	4.65765e-13	1	0	T	76231057	G	T	76231057	3	4	356	1	0	0	0	0	1	0	0	0	16826	991	35	4	1720	4	TTLL5	14	76231057	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	4655400	76231057	31118483	407	67121											
AHNAK2	113146	broad.mit.edu	37	chr14	105406587	105406587	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtcctcccctaccaccGtcactgctggccttttctgt	5	12	6	18	1	2	0	1	0	1	0	4	0	4	0	7	1	2	1	7	1	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:105406587G>A	ENST00000333244.5	-	7	15320	c.15201C>T	c.(15199-15201)gaC>gaT	p.D5067D	AHNAK2_ENST00000557457.1_Silent_p.D65D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5067						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTACCACCGTCACTGCTGG	0.572													42	51					0	0	0	0	A	105406587	G	A	105406587	2	1	356	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105406587	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	29175530	105406587	1942953	408	67122											
TUBGCP5	114791	broad.mit.edu	37	chr15	22866731	22866731	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagtctatctatatctttTgaaaatgttgacacagctaa	13	17	5	6	0	3	2	0	2	3	0	3	2	3	2	0	0	1	2	0	0	7	9			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:22866731T>C	ENST00000283645.4	+	17	2473	c.2343T>C	c.(2341-2343)ttT>ttC	p.F781F	TUBGCP5_ENST00000453949.2_Silent_p.F781F	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	781					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CTATATCTTTTGAAAATGTTG	0.338													5	17					0	0	0	0	C	22866731	T	C	22866731	2	2	356	1	0	0	0	0	0	0	0	1	16865	1809	63	5		5	TUBGCP5	15	22866731	Silent	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08		22866731	79664661	409	67123											
GABRA5	2558	broad.mit.edu	37	chr15	27128606	27128606	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatctggaccccagacacGttcttccacaacgggaagaa	14	6	9	12	2	2	3	0	0	2	3	3	5	3	5	3	2	1	1	3	2	4	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:27128606G>C	ENST00000335625.5	+	6	1287	c.399G>C	c.(397-399)acG>acC	p.T133T	GABRA5_ENST00000355395.5_Silent_p.T133T|GABRA5_ENST00000400081.3_Silent_p.T133T|GABRA5_ENST00000557449.1_Intron|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	133					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCCCAGACACGTTCTTCCACA	0.577													29	61					0	0	0	0	C	27128606	G	C	27128606	2	2	356	1	0	0	0	0	0	0	0	1	6212	1132	40	3		3	GABRA5	15	27128606	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	4261875	27128606	75402786	410	67124											
DISP2	85455	broad.mit.edu	37	chr15	40661397	40661397	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctctgcctcagtgggcctCtcagtagacttcactgtcaa	7	12	8	14	0	5	1	4	0	2	1	7	1	5	1	2	1	1	1	2	1	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:40661397C>G	ENST00000267889.3	+	8	3171	c.3084C>G	c.(3082-3084)ctC>ctG	p.L1028L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1028					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAGTGGGCCTCTCAGTAGACT	0.607													54	100					0	0	0	0	G	40661397	C	G	40661397	2	3	356	1	0	0	0	0	0	0	0	1	4577	900	32	2		2	DISP2	15	40661397	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	13532791	40661397	61869995	411	67125											
EIF3J	8669	broad.mit.edu	37	chr15	44853282	44853284	+	In_Frame_Del	DEL	GAT	GAT	-																															gattaaaagccaccatgaaaGatgatctggcagattatggt																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:44853282_44853284delGAT	ENST00000261868.5	+	8	850_852	c.712_714delGAT	c.(712-714)del	p.D239del	EIF3J_ENST00000424492.3_In_Frame_Del_p.D190del|EIF3J_ENST00000535391.1_In_Frame_Del_p.D185del	NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3, subunit J	239						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		CACCATGAAAGATGATCTGGCAG	0.384													53	139	---	---	---	---					-	44853284	GAT	-	44853282	7	5	356	1	0	1	0	1	0	0	0	0	5058	942	33	0	742	0	EIF3J	15	44853282	In_Frame_Del	DEL	GAT	TCGA-CV-A6K1-01A-11D-A31L-08	4191885	44853282	57678110	412	67126											
SLC30A4	7782	broad.mit.edu	37	chr15	45783053	45783053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataagtatatacaccaacaGcacactaatcatagctgaca	18	8	4	11	0	1	1	1	1	0	0	1	1	1	1	1	0	4	3	1	0	7	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:45783053G>T	ENST00000261867.4	-	4	879	c.565C>A	c.(565-567)Ctg>Atg	p.L189M	RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	189					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	p.L189L(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TACACCAACAGCACACTAATC	0.333													19	28					4.35082e-09	4.74494e-09	1	0	T	45783053	G	T	45783053	3	4	356	1	0	0	0	0	1	0	0	0	14645	962	34	4	744	4	SLC30A4	15	45783053	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	929771	45783053	56748339	413	67127											
ATP8B4	79895	broad.mit.edu	37	chr15	50226346	50226346	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaaattctctatccgcttGagatttgactgagaaatcca	12	13	7	9	1	1	4	0	4	1	2	4	6	3	4	2	0	0	1	2	0	3	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:50226346G>C	ENST00000284509.6	-	15	1462	c.1321C>G	c.(1321-1323)Caa>Gaa	p.Q441E	ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q441E	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	441					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTATCCGCTTGAGATTTGACT	0.358													15	35					0	0	0	0	C	50226346	G	C	50226346	3	2	356	1	0	0	0	0	1	0	0	0	1201	1299	45	2	2313	2	ATP8B4	15	50226346	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	4443293	50226346	52305046	414	67128											
UNC13C	440279	broad.mit.edu	37	chr15	54307541	54307541	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggaagtagtatggaacaAaagcacacagagtctgagtg	15	8	12	6	0	1	2	0	1	1	1	1	4	1	4	0	2	2	3	0	2	6	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:54307541A>C	ENST00000545554.1	+	1	2441	c.2441A>C	c.(2440-2442)aAa>aCa	p.K814T	UNC13C_ENST00000260323.11_Missense_Mutation_p.K814T|UNC13C_ENST00000537900.1_Missense_Mutation_p.K814T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	814					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTATGGAACAAAAGCACACAG	0.423													14	40					0	0	0	0	C	54307541	A	C	54307541	3	2	356	1	0	0	0	0	1	0	0	0	17082	14	1	5	2443	5	UNC13C	15	54307541	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	4081195	54307541	48223851	415	67129											
CILP	8483	broad.mit.edu	37	chr15	65499223	65499223	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggactaccatggaccacCtggccagtgctgcccgcagg	7	5	14	15	2	0	0	0	0	0	0	0	2	0	2	5	5	3	2	5	5	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:65499223C>A	ENST00000261883.4	-	4	487	c.321G>T	c.(319-321)caG>caT	p.Q107H		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	107					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATGGACCACCTGGCCAGTGC	0.622													24	34					1.64293e-13	1.87154e-13	1	0	A	65499223	C	A	65499223	3	1	356	1	0	0	0	0	1	0	0	0	3458	680	24	4	3257	4	CILP	15	65499223	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	11191682	65499223	37032169	416	67130											
SCAMP2	10066	broad.mit.edu	37	chr15	75142895	75142895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtaccaacaaaggaaggCacagggagtgaagatcagaa	17	4	13	7	1	1	3	1	1	0	2	2	5	1	5	1	4	2	2	1	4	6	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:75142895C>T	ENST00000268099.9	-	6	701	c.592G>A	c.(592-594)Gcc>Acc	p.A198T		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	198					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CAAAGGAAGGCACAGGGAGTG	0.562													52	153					0	0	0	0	T	75142895	C	T	75142895	3	4	356	1	0	0	0	0	1	0	0	0	13957	710	25	4	413	4	SCAMP2	15	75142895	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	9643672	75142895	27388497	417	67131											
PDE8A	5151	broad.mit.edu	37	chr15	85666413	85666413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaacccttggcaacactaGaagaaaatggggtaagggaa	18	5	11	7	0	0	2	0	0	0	2	0	3	0	3	1	4	2	2	1	4	8	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:85666413G>A	ENST00000310298.4	+	20	2326	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	PDE8A_ENST00000394553.1_Missense_Mutation_p.E692K|PDE8A_ENST00000557957.1_Missense_Mutation_p.E620K|PDE8A_ENST00000339708.5_Missense_Mutation_p.E646K			O60658	PDE8A_HUMAN	phosphodiesterase 8A	692	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GGCAACACTAGAAGAAAATGG	0.433													23	57					0	0	0	0	A	85666413	G	A	85666413	3	1	356	1	0	0	0	0	1	0	0	0	11724	943	33	2	2148	2	PDE8A	15	85666413	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	10523518	85666413	16864979	418	67132											
AGBL1	123624	broad.mit.edu	37	chr15	87531236	87531236	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agattaaaatcatccaatttCctgccaaagcatatttggtt	14	14	5	8	0	1	1	1	0	0	1	3	1	3	1	3	1	2	2	3	1	5	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:87531236C>A	ENST00000441037.2	+	23	3197	c.3102C>A	c.(3100-3102)ttC>ttA	p.F1034L	AGBL1_ENST00000421325.2_Missense_Mutation_p.F1034L|RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.F765L	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1034					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						catccaatttcctgccaaagc	0.333													56	107					2.91325e-39	3.66544e-39	1	0	A	87531236	C	A	87531236	3	1	356	1	0	0	0	0	1	0	0	0	375	854	30	2	3188	2	AGBL1	15	87531236	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1864823	87531236	15000156	419	67133											
FANCI	55215	broad.mit.edu	37	chr15	89811661	89811661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcactgtgccatcaggtGaacttcgtcatgtggaaggc	8	12	12	9	1	3	1	3	1	0	0	4	2	3	2	1	3	2	0	1	3	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:89811661G>A	ENST00000310775.7	+	10	873	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	FANCI_ENST00000300027.8_Missense_Mutation_p.E263K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	263					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCCATCAGGTGAACTTCGTCA	0.428								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				35	94					0	0	0	0	A	89811661	G	A	89811661	3	1	356	1	0	0	0	0	1	0	0	0	5714	1291	45	2	821	2	FANCI	15	89811661	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2280425	89811661	12719731	420	67134											
FANCI	55215	broad.mit.edu	37	chr15	89811724	89811724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccatcaaattggactatGaactaggcagagaactcgtg	13	10	10	8	1	1	2	1	1	0	1	2	4	1	3	1	2	3	1	1	2	5	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:89811724G>A	ENST00000310775.7	+	10	936	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	FANCI_ENST00000300027.8_Missense_Mutation_p.E284K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	284					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATTGGACTATGAACTAGGCAG	0.403								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				51	93					0	0	0	0	A	89811724	G	A	89811724	3	1	356	1	0	0	0	0	1	0	0	0	5714	1291	45	2	884	2	FANCI	15	89811724	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	63	89811724	12719668	421	67135											
UNC45A	55898	broad.mit.edu	37	chr15	91491102	91491102	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggctccactctcaaacTggctaagcagtgtcgaaagt	12	9	10	10	1	1	1	1	1	1	0	4	2	2	1	1	2	2	3	1	2	4	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:91491102T>C	ENST00000394275.2	+	14	2367	c.1532T>C	c.(1531-1533)cTg>cCg	p.L511P	UNC45A_ENST00000418476.2_Missense_Mutation_p.L526P	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	526					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACTCTCAAACTGGCTAAGCAG	0.572													13	36					0	0	0	0	C	91491102	T	C	91491102	3	2	356	1	0	0	0	0	1	0	0	0	17084	1580	55	5	1619	5	UNC45A	15	91491102	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	1679378	91491102	11040290	422	67136											
NR2F2	7026	broad.mit.edu	37	chr15	96875743	96875743	+	Frame_Shift_Del	DEL	A	A	-																															agtgccagtactgccgcctcAaaaagtgcctcaaagtgggc																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:96875743delA	ENST00000394166.3	+	1	1798	c.409delA	c.(409-411)aafs	p.K138fs	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	138	Interaction with ZFPM2 (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CTGCCGCCTCAAAAAGTGCCT	0.612													43	71	---	---	---	---					-	96875743	A	-	96875743	7	5	356	1	0	1	0	1	0	0	0	0	10699	131	5	0	458	0	NR2F2	15	96875743	Frame_Shift_Del	DEL	A	TCGA-CV-A6K1-01A-11D-A31L-08	5384641	96875743	5655649	423	67137											
PGPEP1L	145814	broad.mit.edu	37	chr15	99512851	99512851	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagaatgatcgccttggcGgcggtgtccatgcccacatg	7	9	12	13	3	0	2	0	1	0	1	3	2	2	2	4	3	1	0	4	3	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:99512851G>A	ENST00000535714.1	-	4	817	c.12C>T	c.(10-12)gcC>gcT	p.A4A	PGPEP1L_ENST00000378919.6_Silent_p.A58A|RP11-654A16.3_ENST00000559468.1_RNA	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	58					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						TCGCCTTGGCGGCGGTGTCCA	0.612													61	120					0	0	0	0	A	99512851	G	A	99512851	2	1	356	1	0	0	0	0	0	0	0	1	11876	1103	39	1		1	PGPEP1L	15	99512851	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2637108	99512851	3018541	424	67138											
LRRK1	79705	broad.mit.edu	37	chr15	101606077	101606077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaggtgcctgagggggactCcatcgcggacgtgagcatca	10	6	15	10	3	1	2	1	2	0	0	3	4	2	4	2	4	2	1	2	4	1	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:101606077C>T	ENST00000284395.5	+	33	5826	c.5426C>T	c.(5425-5427)tCc>tTc	p.S1809F	LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.S1812F			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1812					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GAGGGGGACTCCATCGCGGAC	0.627													15	48					0	0	0	0	T	101606077	C	T	101606077	3	4	356	1	0	0	0	0	1	0	0	0	9096	855	30	2	5557	2	LRRK1	15	101606077	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2093226	101606077	925315	425	67139											
TRAP1	10131	broad.mit.edu	37	chr16	3739110	3739110	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaagcttctttgtctcGgcctggaactcatgtttgga	8	14	9	10	1	3	0	1	0	2	0	5	2	4	2	2	3	2	2	2	3	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:3739110G>A	ENST00000246957.5	-	3	364	c.276C>T	c.(274-276)gcC>gcT	p.A92A	TRAP1_ENST00000538171.1_Silent_p.A39A	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	92					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TCTTTGTCTCGGCCTGGAACT	0.438													22	40					0	0	0	0	A	3739110	G	A	3739110	2	1	356	1	0	0	0	0	0	0	0	1	16550	1103	39	1		1	TRAP1	16	3739110	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08		3739110	86615643	426	67140											
DNAJA3	9093	broad.mit.edu	37	chr16	4500478	4500478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtggaggggacggtgaacgGcgtcaccctcaccagctctg	7	7	15	12	3	3	1	2	1	1	0	3	3	3	3	2	5	2	1	2	5	1	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:4500478G>A	ENST00000262375.6	+	10	1396	c.1319G>A	c.(1318-1320)gGc>gAc	p.G440D	DNAJA3_ENST00000355296.4_Missense_Mutation_p.G440D|DNAJA3_ENST00000431375.2_Missense_Mutation_p.G287D	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	440					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						ACGGTGAACGGCGTCACCCTC	0.607													5	10					0	0	0	0	A	4500478	G	A	4500478	3	1	356	1	0	0	0	0	1	0	0	0	4649	1203	42	4	1357	4	DNAJA3	16	4500478	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	761368	4500478	85854275	427	67141											
DNAH3	55567	broad.mit.edu	37	chr16	21060917	21060917	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgaactcatcaaagcaCgcccatgctccagcctgtgc	9	9	8	15	1	2	1	2	1	0	0	3	1	3	1	3	0	5	3	3	0	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:21060917C>T	ENST00000261383.3	-	31	4433	c.4434G>A	c.(4432-4434)gcG>gcA	p.A1478A	DNAH3_ENST00000415178.1_Silent_p.A1478A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1478	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATCAAAGCACGCCCATGCTC	0.517													14	36					0	0	0	0	T	21060917	C	T	21060917	2	4	356	1	0	0	0	0	0	0	0	1	4640	523	19	1		1	DNAH3	16	21060917	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	16560439	21060917	69293836	428	67142											
IL4R	3566	broad.mit.edu	37	chr16	27374287	27374287	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcccccagctctctgaGccaaccactgtgccccaacc	7	8	7	19	0	1	1	0	1	1	0	3	1	2	1	7	0	5	1	7	0	2	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:27374287G>A	ENST00000395762.2	+	11	1873	c.1614G>A	c.(1612-1614)gaG>gaA	p.E538E	IL4R_ENST00000170630.2_Silent_p.E538E|IL4R_ENST00000543915.2_Silent_p.E538E|IL4R_ENST00000380922.3_Silent_p.E523E	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	538	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AGCTCTCTGAGCCAACCACTG	0.647													30	49					0	0	0	0	A	27374287	G	A	27374287	2	1	356	1	0	0	0	0	0	0	0	1	7751	962	34	4		4	IL4R	16	27374287	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	6313370	27374287	62980466	429	67143											
TAOK2	9344	broad.mit.edu	37	chr16	29997177	29997177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctggaccaggacctgctgCgggaggtaggcatcccaatc	8	6	14	13	1	0	0	0	0	0	0	2	3	1	3	4	5	2	3	4	5	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:29997177C>T	ENST00000308893.4	+	15	3030	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	TAOK2_ENST00000416441.2_Missense_Mutation_p.R490W|TAOK2_ENST00000543033.1_Missense_Mutation_p.R663W|TAOK2_ENST00000279394.3_Missense_Mutation_p.R663W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	663					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGACCTGCTGCGGGAGGTAGG	0.592													18	24					0	0	0	0	T	29997177	C	T	29997177	3	4	356	1	0	0	0	0	1	0	0	0	15639	759	27	1	2041	1	TAOK2	16	29997177	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2622890	29997177	60357576	430	67144											
PRR14	78994	broad.mit.edu	37	chr16	30664127	30664127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacaggcagccgcctgcctCgccaccccggcaggccgggt	5	3	13	20	4	0	0	0	0	0	0	1	0	0	0	8	4	2	2	8	4	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:30664127C>T	ENST00000542965.2	+	3	734	c.278C>T	c.(277-279)tCg>tTg	p.S93L	PRR14_ENST00000300835.4_Missense_Mutation_p.S93L			Q9BWN1	PRR14_HUMAN	proline rich 14	93	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCGCCTGCCTCGCCACCCCGG	0.632													27	37					0	0	0	0	T	30664127	C	T	30664127	3	4	356	1	0	0	0	0	1	0	0	0	12666	893	31	1	288	1	PRR14	16	30664127	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	666950	30664127	59690626	431	67145											
SETD1A	9739	broad.mit.edu	37	chr16	30982757	30982757	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatgctgactcagatggCgaaaatgacagcacatcaga	14	8	10	9	1	2	4	2	2	0	2	2	5	2	4	0	1	2	3	0	1	3	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:30982757C>T	ENST00000262519.8	+	13	3761	c.3075C>T	c.(3073-3075)ggC>ggT	p.G1025G		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1025	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACTCAGATGGCGAAAATGACA	0.552													47	130					0	0	0	0	T	30982757	C	T	30982757	2	4	356	1	0	0	0	0	0	0	0	1	14217	755	27	1		1	SETD1A	16	30982757	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	318630	30982757	59371996	432	67146											
ITGAM	3684	broad.mit.edu	37	chr16	31308946	31308946	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagcagacccgagggggcCaggtgtccgtgtgccccttg	6	6	16	13	3	0	1	0	0	0	1	1	3	1	1	5	3	2	1	5	3	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:31308946C>T	ENST00000544665.3	+	13	1539	c.1468C>T	c.(1468-1470)Cag>Tag	p.Q490*	ITGAM_ENST00000287497.8_Nonsense_Mutation_p.Q490*	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	490					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCGAGGGGGCCAGGTGTCCGT	0.706													55	95					0	0	0	0	T	31308946	C	T	31308946	4	4	356	1	0	0	0	0	0	1	0	0	7940	595	21	4	1518	4	ITGAM	16	31308946	Nonsense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	326189	31308946	59045807	433	67147											
TGFB1I1	7041	broad.mit.edu	37	chr16	31488684	31488684	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgagcacgagggccgcccGttgtgcgagaaccacttcca	8	7	12	14	5	0	1	0	0	0	1	2	4	1	1	4	1	3	2	4	1	1	3	rs149594870		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:31488684G>A	ENST00000394863.3	+	11	1303	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	TGFB1I1_ENST00000567607.1_Silent_p.P374P|TGFB1I1_ENST00000394858.2_Silent_p.P374P|TGFB1I1_ENST00000361773.3_Silent_p.P374P	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	391	LIM zinc-binding 3.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						AGGGCCGCCCGTTGTGCGAGA	0.682													14	16					0	0	0	0	A	31488684	G	A	31488684	2	1	356	1	0	0	0	0	0	0	0	1	15911	1132	40	1		1	TGFB1I1	16	31488684	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	179738	31488684	58866069	434	67148											
ABCC12	94160	broad.mit.edu	37	chr16	48138103	48138103	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccacgactaaaaggacAgcaggaaacacagcagccaa	17	2	10	12	1	0	0	0	0	0	0	0	3	0	2	2	3	4	2	2	3	4	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:48138103A>G	ENST00000311303.3	-	20	3195	c.2850T>C	c.(2848-2850)gcT>gcC	p.A950A	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Intron	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	950	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTAAAAGGACAGCAGGAAACA	0.483													25	68					0	0	0	0	G	48138103	A	G	48138103	2	3	356	1	0	0	0	0	0	0	0	1	52	175	7	5		5	ABCC12	16	48138103	Silent	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	16649419	48138103	42216650	435	67149											
ZNF423	23090	broad.mit.edu	37	chr16	49669695	49669695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaacttgacactgcactcgGggcaacggaggccggcacag	11	4	13	13	3	0	1	0	1	0	0	1	2	0	2	1	5	3	3	1	5	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:49669695G>A	ENST00000561648.1	-	4	3421	c.3368C>T	c.(3367-3369)cCc>cTc	p.P1123L	ZNF423_ENST00000535559.1_Missense_Mutation_p.P1006L|ZNF423_ENST00000262383.2_Missense_Mutation_p.P1123L|ZNF423_ENST00000562520.1_Missense_Mutation_p.P1063L|ZNF423_ENST00000567169.1_Missense_Mutation_p.P1006L|ZNF423_ENST00000563137.2_Missense_Mutation_p.P1063L|ZNF423_ENST00000562871.1_Missense_Mutation_p.P1063L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1123					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ACTGCACTCGGGGCAACGGAG	0.716													29	71					0	0	0	0	A	49669695	G	A	49669695	3	1	356	1	0	0	0	0	1	0	0	0	17993	1232	43	4	506	4	ZNF423	16	49669695	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1531592	49669695	40685058	436	67150											
MMP2	4313	broad.mit.edu	37	chr16	55519218	55519218	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgtttcagagcatggCgatggatacccctttgacgg	7	12	14	8	2	1	2	1	1	0	1	1	4	1	3	2	3	2	2	2	3	1	3	rs151071926		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:55519218C>T	ENST00000219070.4	+	4	1046	c.537C>T	c.(535-537)ggC>ggT	p.G179G	MMP2_ENST00000543485.1_Silent_p.G103G|MMP2_ENST00000437642.2_Silent_p.G129G|MMP2_ENST00000570308.1_Silent_p.G103G	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	179	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CAGAGCATGGCGATGGATACC	0.567													40	105					0	0	0	0	T	55519218	C	T	55519218	2	4	356	1	0	0	0	0	0	0	0	1	9727	755	27	1		1	MMP2	16	55519218	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	5849523	55519218	34835535	437	67151											
CDH11	1009	broad.mit.edu	37	chr16	64984670	64984670	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaccaggaagcgcccttacCcaggagaatgacgatgcagg	12	4	14	11	2	0	2	0	1	0	1	0	6	0	4	3	4	3	1	3	4	3	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:64984670C>A	ENST00000394156.3	-	12	2347	c.1894_splice	c.e12+1	p.G632_splice	CDH11_ENST00000566827.1_Splice_Site_p.V506_splice|CDH11_ENST00000268603.4_Splice_Site_p.V632_splice			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	0					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCGCCCTTACCCAGGAGAATG	0.617			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			14	35					2.31682e-05	2.41516e-05	1	0	A	64984670	C	A	64984670	5	1	356	1	0	0	0	0	0	0	1	0	3126	637	22	4	504	4	CDH11	16	64984670	Splice_Site	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	9465452	64984670	25370083	438	67152											
NQO1	1728	broad.mit.edu	37	chr16	69745127	69745127	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctggagtgtgcccaaTgctatatgtcagttgaggtt	7	14	13	7	0	2	1	1	1	1	0	2	2	2	2	1	2	3	4	1	2	3	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:69745127T>C	ENST00000320623.5	-	6	1088	c.577A>G	c.(577-579)Att>Gtt	p.I193V	NQO1_ENST00000561500.1_Missense_Mutation_p.I155V|NQO1_ENST00000564043.1_Missense_Mutation_p.I172V|NQO1_ENST00000439109.2_Missense_Mutation_p.I121V|NQO1_ENST00000379046.2_Missense_Mutation_p.I155V|NQO1_ENST00000379047.3_Missense_Mutation_p.I159V	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	193					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	GTGTGCCCAATGCTATATGTC	0.463													65	169					0	0	0	0	C	69745127	T	C	69745127	3	2	356	1	0	0	0	0	1	0	0	0	10682	1464	51	5	251	5	NQO1	16	69745127	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	4760457	69745127	20609626	439	67153											
HYDIN	54768	broad.mit.edu	37	chr16	70866892	70866892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtcacttcaaaagaaacCtccatgcctgaggtaatata	15	10	7	9	0	2	2	2	1	0	1	3	2	3	2	3	2	2	1	3	2	7	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:70866892C>T	ENST00000393567.2	-	80	13908	c.13758G>A	c.(13756-13758)gaG>gaA	p.E4586E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4586										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAAAAGAAACCTCCATGCCTG	0.428													6	16					0	0	0	0	T	70866892	C	T	70866892	2	4	356	1	0	0	0	0	0	0	0	1	7520	680	24	4		4	HYDIN	16	70866892	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1121765	70866892	19487861	440	67154											
ZFHX3	463	broad.mit.edu	37	chr16	72822363	72822363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagcggggctgagatcGtggctgcagttgccgtgggg	4	8	21	8	3	0	1	0	1	0	1	1	2	0	1	1	6	3	5	1	6	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:72822363G>A	ENST00000268489.5	-	10	10484	c.9812C>T	c.(9811-9813)aCg>aTg	p.T3271M	ZFHX3_ENST00000397992.5_Missense_Mutation_p.T2357M	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3271					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGCTGAGATCGTGGCTGCAGT	0.602													45	94					0	0	0	0	A	72822363	G	A	72822363	3	1	356	1	0	0	0	0	1	0	0	0	17729	1145	40	1	1303	1	ZFHX3	16	72822363	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1955471	72822363	17532390	441	67155											
RFWD3	55159	broad.mit.edu	37	chr16	74685845	74685845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgacagctccagattcctCtgcctggtcaacaacccctc	10	9	6	16	0	2	2	1	1	1	1	5	2	4	2	5	1	4	1	5	1	3	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:74685845C>G	ENST00000361070.4	-	3	791	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	RFWD3_ENST00000571750.1_Missense_Mutation_p.E232Q	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	232					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CCAGATTCCTCTGCCTGGTCA	0.448													31	124					0	0	0	0	G	74685845	C	G	74685845	3	3	356	1	0	0	0	0	1	0	0	0	13343	922	32	2	1674	2	RFWD3	16	74685845	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1863482	74685845	15668908	442	67156											
CHST6	4166	broad.mit.edu	37	chr16	75512699	75512699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacagttcctgcacgcggCggatcttggcaaagggcagc	8	6	14	13	4	1	0	0	0	1	0	2	1	2	1	1	4	2	5	1	4	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:75512699C>T	ENST00000332272.4	-	3	1207	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	CHST6_ENST00000390664.2_Missense_Mutation_p.R343H|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	343					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGCACGCGGCGGATCTTGGC	0.652													32	66					0	0	0	0	T	75512699	C	T	75512699	3	4	356	1	0	0	0	0	1	0	0	0	3437	768	27	1	163	1	CHST6	16	75512699	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	826854	75512699	14842054	443	67157											
TAF1C	9013	broad.mit.edu	37	chr16	84213311	84213311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggcagtcaggttgggtgtCgccaggaggcccagcatctc	7	8	15	11	1	2	0	1	0	1	0	4	1	2	1	2	5	1	3	2	5	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:84213311C>T	ENST00000567759.1	-	14	2028	c.1846G>A	c.(1846-1848)Gac>Aac	p.D616N	TAF1C_ENST00000541676.1_Missense_Mutation_p.D523N|TAF1C_ENST00000378541.4_Missense_Mutation_p.D616N|TAF1C_ENST00000341690.6_Missense_Mutation_p.D522N|TAF1C_ENST00000566732.1_Missense_Mutation_p.D590N|TAF1C_ENST00000570117.1_Missense_Mutation_p.D284N	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	616					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGTTGGGTGTCGCCAGGAGGC	0.667													8	24					0	0	0	0	T	84213311	C	T	84213311	3	4	356	1	0	0	0	0	1	0	0	0	15612	884	31	1	767	1	TAF1C	16	84213311	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	8700612	84213311	6141442	444	67158											
FOXF1	2294	broad.mit.edu	37	chr16	86546540	86546540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgccttgcaggcatcccgcGgtatcactcgcagtcgccca	6	8	10	17	5	1	0	1	0	0	0	5	0	2	0	3	2	1	4	3	2	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:86546540G>A	ENST00000262426.4	+	2	1032	c.989G>A	c.(988-990)cGg>cAg	p.R330Q		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	330					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GGCATCCCGCGGTATCACTCG	0.632													20	39					0	0	0	0	A	86546540	G	A	86546540	3	1	356	1	0	0	0	0	1	0	0	0	6052	1116	39	1	995	1	FOXF1	16	86546540	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2333229	86546540	3808213	445	67159											
ZNF276	92822	broad.mit.edu	37	chr16	89788984	89788984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcactgtcgcctctgccacgGgaagttttcctcgagaagcc	7	10	10	14	3	2	1	1	0	1	1	5	3	3	2	4	1	2	1	4	1	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:89788984G>A	ENST00000289816.5	+	2	338	c.26G>A	c.(25-27)gGg>gAg	p.G9E	ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000443381.2_Missense_Mutation_p.G84E|ZNF276_ENST00000568064.1_Missense_Mutation_p.G9E	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCTGCCACGGGAAGTTTTCC	0.647													25	85					0	0	0	0	A	89788984	G	A	89788984	3	1	356	1	0	0	0	0	1	0	0	0	17906	1232	43	4	257	4	ZNF276	16	89788984	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	3242444	89788984	565769	446	67160											
GLOD4	51031	broad.mit.edu	37	chr17	679028	679028	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattacctgactgaggcagActgcgattctgcaaatagaa	14	10	9	8	1	1	4	0	2	1	2	1	5	1	4	1	1	3	2	1	1	5	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:679028A>G	ENST00000301329.6	-	4	478	c.393T>C	c.(391-393)agT>agC	p.S131S	GLOD4_ENST00000301328.5_Silent_p.S146S|GLOD4_ENST00000536578.1_Silent_p.S122S	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	146						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACTGAGGCAGACTGCGATTCT	0.483													13	64					0	0	0	0	G	679028	A	G	679028	2	3	356	1	0	0	0	0	0	0	0	1	6501	272	10	5		5	GLOD4	17	679028	Silent	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08		679028	80516182	447	67161											
SLC43A2	124935	broad.mit.edu	37	chr17	1519990	1519990	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctgggcctggcagctgagCcagccgttcatccagctcac	6	8	11	16	1	2	1	2	1	0	0	4	1	4	1	5	2	4	4	5	2	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:1519990C>T	ENST00000571650.1	-	3	540	c.234G>A	c.(232-234)tgG>tgA	p.W78*	SLC43A2_ENST00000382147.4_Nonsense_Mutation_p.W78*|SLC43A2_ENST00000301335.4_Nonsense_Mutation_p.W78*			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	78					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GGCAGCTGAGCCAGCCGTTCA	0.592													15	58					0	0	0	0	T	1519990	C	T	1519990	4	4	356	1	0	0	0	0	0	1	0	0	14721	740	26	4	1523	4	SLC43A2	17	1519990	Nonsense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	840962	1519990	79675220	448	67162											
GLTPD2	388323	broad.mit.edu	37	chr17	4692356	4692356	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggcactggttcagccactCaattcctctcgctatcttcg	6	12	8	15	3	4	0	2	0	2	0	7	0	5	0	2	2	1	3	2	2	2	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:4692356C>G	ENST00000331264.7	+	1	103	c.50C>G	c.(49-51)tCa>tGa	p.S17*		NM_001014985.2	NP_001014985.2			glycolipid transfer protein domain containing 2									p.S17L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						TTCAGCCACTCAATTCCTCTC	0.662													15	30					0	0	0	0	G	4692356	C	G	4692356	4	3	356	1	0	0	0	0	0	1	0	0	6524	838	29	2	52	2	GLTPD2	17	4692356	Nonsense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3172366	4692356	76502854	449	67163											
NLRP1	22861	broad.mit.edu	37	chr17	5462268	5462268	+	Frame_Shift_Del	DEL	T	T	-																															catctggactgaaaagggtcTttttttgccagatgccctca																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:5462268delT	ENST00000345221.3	-	4	2302	c.1748delA	c.(1747-1749)agfs	p.K583fs	NLRP1_ENST00000572272.1_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.K583fs	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	583	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GAAAAGGGTCTTTTTTTGCCA	0.532													21	50	---	---	---	---					-	5462268	T	-	5462268	7	5	356	1	0	1	0	1	0	0	0	0	10541	1609	56	0	2804	0	NLRP1	17	5462268	Frame_Shift_Del	DEL	T	TCGA-CV-A6K1-01A-11D-A31L-08	769912	5462268	75732942	450	67164											
TP53	7157	broad.mit.edu	37	chr17	7578176	7578176	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccccagttgcaaaccagaCctcaggcggctcatagggca	11	5	11	14	1	2	1	2	0	0	1	2	2	2	1	4	3	2	4	4	3	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:7578176C>A	ENST00000420246.2	-	6	805		c.e6+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAACCAGACCTCAGGCGGC	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	15					2.79863e-10	3.09058e-10	1	0	A	7578176	C	A	7578176	5	1	356	1	0	0	0	0	0	0	1	0	16476	521	18	4	621	4	TP53	17	7578176	Splice_Site	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2115908	7578176	73617034	451	67165											
CHD3	1107	broad.mit.edu	37	chr17	7813774	7813774	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctggaggagttgctgagCgacatgaaggcggacgtgac	10	6	17	8	3	0	3	0	3	0	0	0	7	0	6	0	4	3	3	0	4	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:7813774C>T	ENST00000380358.4	+	38	5797	c.5796C>T	c.(5794-5796)agC>agT	p.S1932S	CHD3_ENST00000358181.4_Silent_p.S1839S|CHD3_ENST00000330494.7_Silent_p.S1873S	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1873	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGTTGCTGAGCGACATGAAGG	0.612													37	122					0	0	0	0	T	7813774	C	T	7813774	2	4	356	1	0	0	0	0	0	0	0	1	3355	767	27	1		1	CHD3	17	7813774	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	235598	7813774	73381436	452	67166											
KCNAB3	9196	broad.mit.edu	37	chr17	7831114	7831114	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactcacctaggccaagacaGgatacccgaagaccagactt	14	5	9	13	1	1	3	1	0	0	3	1	6	1	4	4	2	1	0	4	2	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:7831114G>T	ENST00000303790.2	-	2	272	c.273C>A	c.(271-273)tcC>tcA	p.S91S	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	91						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				GGCCAAGACAGGATACCCGAA	0.527													65	189					3.28615e-30	4.09269e-30	1	0	T	7831114	G	T	7831114	2	4	356	1	0	0	0	0	0	0	0	1	8064	987	35	4		4	KCNAB3	17	7831114	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	17340	7831114	73364096	453	67167											
GUCY2D	3000	broad.mit.edu	37	chr17	7909801	7909801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtggcccgccacatcCgggatgcgcaggtccctggc	5	6	14	16	3	0	0	0	0	0	0	2	1	2	1	4	4	2	2	4	4	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:7909801C>T	ENST00000254854.4	+	4	1297	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	383					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.R383R(1)		skin(1)	1		Prostate(122;0.157)				CCGCCACATCCGGGATGCGCA	0.672													22	47					0	0	0	0	T	7909801	C	T	7909801	3	4	356	1	0	0	0	0	1	0	0	0	6947	643	23	1	1157	1	GUCY2D	17	7909801	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	78687	7909801	73285409	454	67168											
MYH8	4626	broad.mit.edu	37	chr17	10301888	10301888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgccttcctgctcttcctCatactgttcccgcagcaggt	4	15	7	15	1	2	0	1	0	1	0	5	0	5	0	4	1	4	4	4	1	1	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:10301888C>T	ENST00000403437.2	-	30	4145	c.4051G>A	c.(4051-4053)Gag>Aag	p.E1351K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1351					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCTCTTCCTCATACTGTTCC	0.572									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				54	128					0	0	0	0	T	10301888	C	T	10301888	3	4	356	1	0	0	0	0	1	0	0	0	10111	835	29	2	1806	2	MYH8	17	10301888	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2392087	10301888	70893322	455	67169											
MYH1	4619	broad.mit.edu	37	chr17	10419786	10419786	+	Frame_Shift_Del	DEL	C	C	-																															tcggtcttagctgtcaccttCcccccttccctgctctgcac																								rs147810417		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:10419786delC	ENST00000226207.5	-	3	268	c.174delG	c.(172-174)ggfs	p.G58fs	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	58	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGTCACCTTCCCCCCTTCCC	0.473													79	162	---	---	---	---					-	10419786	C	-	10419786	7	5	356	1	0	1	0	1	0	0	0	0	10099	842	30	0	5797	0	MYH1	17	10419786	Frame_Shift_Del	DEL	C	TCGA-CV-A6K1-01A-11D-A31L-08	117898	10419786	70775424	456	67170											
FLCN	201163	broad.mit.edu	37	chr17	17120445	17120446	+	Frame_Shift_Ins	INS	-	-	C																															cttttccagatcacctggttINSccccatgagaacgtgccagg																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:17120445_17120446insC	ENST00000285071.4	-	10	1567_1568	c.1113_1114insG	c.(1111-1116)ggaccafs	p.P372fs	RP11-45M22.4_ENST00000427497.3_Frame_Shift_Ins_p.T79fs	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	372					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATCACCTGGTTCCCCATGAGAA	0.525									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				14	55	---	---	---	---					C	17120446	-	C	17120445	7	5	356	1	0	1	1	0	0	0	0	0	5966	1783	62	0	645	0	FLCN	17	17120445	Frame_Shift_Ins	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	6700659	17120445	64074765	457	67171											
FAM83G	644815	broad.mit.edu	37	chr17	18881947	18881947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcgtacttggggttgacGagcttcttggccacagtgcc	6	11	14	10	2	1	1	0	1	1	0	1	2	1	1	2	3	4	3	2	3	1	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:18881947G>A	ENST00000388995.6	-	5	1255	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L	SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Silent_p.L344L|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Silent_p.L344L|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	344										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGGGGTTGACGAGCTTCTTGG	0.612													5	175					0	0	0	0	A	18881947	G	A	18881947	2	1	356	1	0	0	0	0	0	0	0	1	5685	1045	37	1		1	FAM83G	17	18881947	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1761502	18881947	62313263	458	67172											
WSB1	26118	broad.mit.edu	37	chr17	25621434	25621434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccatagatggccagctttCccccgagggtcaacgagaaa	11	6	10	14	2	1	2	1	0	0	2	2	4	2	2	5	2	2	1	5	2	3	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:25621434C>T	ENST00000262394.2	+	1	329	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000581185.1_Missense_Mutation_p.P5S|WSB1_ENST00000579733.1_Missense_Mutation_p.P5S|WSB1_ENST00000427287.2_Missense_Mutation_p.P5S|WSB1_ENST00000583193.1_Missense_Mutation_p.P5S|WSB1_ENST00000348811.2_Missense_Mutation_p.P5S	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	5					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GGCCAGCTTTCCCCCGAGGGT	0.627													41	107					0	0	0	0	T	25621434	C	T	25621434	3	4	356	1	0	0	0	0	1	0	0	0	17500	855	30	2	15	2	WSB1	17	25621434	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	6739487	25621434	55573776	459	67173											
MYO18A	399687	broad.mit.edu	37	chr17	27421969	27421969	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccacctctagttgctgcttCaggctgaaagcctcagcgag	8	9	10	14	1	3	1	2	1	1	0	3	2	3	1	3	1	4	4	3	1	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:27421969C>T	ENST00000527372.1	-	29	4674	c.4494G>A	c.(4492-4494)ctG>ctA	p.L1498L	MYO18A_ENST00000354329.4_Silent_p.L1498L|MYO18A_ENST00000533112.1_Silent_p.L1498L|MYO18A_ENST00000531253.1_Silent_p.L1498L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1498					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTTGCTGCTTCAGGCTGAAAG	0.632													8	19					0	0	0	0	T	27421969	C	T	27421969	2	4	356	1	0	0	0	0	0	0	0	1	10135	813	29	2		2	MYO18A	17	27421969	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1800535	27421969	53773241	460	67174			1	105		3	3	55	C		4.951002e-07
MYO18A	399687	broad.mit.edu	37	chr17	27422004	27422004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcgaggagcatgtccttctCccgctgcagcttctcccgct	5	10	10	16	3	2	0	0	0	2	0	5	2	3	1	3	1	4	5	3	1	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:27422004C>T	ENST00000527372.1	-	29	4639	c.4459G>A	c.(4459-4461)Gag>Aag	p.E1487K	MYO18A_ENST00000354329.4_Missense_Mutation_p.E1487K|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1487K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1487K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1487					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ATGTCCTTCTCCCGCTGCAGC	0.637													4	10					0	0	0	0	T	27422004	C	T	27422004	3	4	356	1	0	0	0	0	1	0	0	0	10135	864	30	2	1761	2	MYO18A	17	27422004	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	35	27422004	53773206	461	67175			1	105		3	3	55	C		4.951002e-07
MYO18A	399687	broad.mit.edu	37	chr17	27422023	27422023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgctgcagcttctcccgCtgcagcttctcccgctgggc	2	10	10	19	3	2	0	0	0	2	0	5	0	3	0	3	1	4	7	3	1	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:27422023C>A	ENST00000527372.1	-	29	4620	c.4440G>T	c.(4438-4440)caG>caT	p.Q1480H	MYO18A_ENST00000354329.4_Missense_Mutation_p.Q1480H|MYO18A_ENST00000533112.1_Missense_Mutation_p.Q1480H|MYO18A_ENST00000531253.1_Missense_Mutation_p.Q1480H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1480					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCTTCTCCCGCTGCAGCTTCT	0.632													3	8					0.150653	0.150899	1	0	A	27422023	C	A	27422023	3	1	356	1	0	0	0	0	1	0	0	0	10135	796	28	4	1780	4	MYO18A	17	27422023	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	19	27422023	53773187	462	67176			1	105		3	3	55	C		4.951002e-07
SSH2	85464	broad.mit.edu	37	chr17	27977735	27977735	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatccgttgcctcttcaTcatatacccgaatgttatga	10	13	8	10	2	3	2	2	1	1	1	4	4	4	2	3	1	2	2	3	1	4	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:27977735T>C	ENST00000269033.3	-	12	1233	c.1082A>G	c.(1081-1083)gAt>gGt	p.D361G	SSH2_ENST00000540801.1_Missense_Mutation_p.D388G|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	361	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCTCTTCATCATATACCCG	0.418													39	68					0	0	0	0	C	27977735	T	C	27977735	3	2	356	1	0	0	0	0	1	0	0	0	15275	1435	50	5	3205	5	SSH2	17	27977735	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	555712	27977735	53217475	463	67177											
ZNF207	7756	broad.mit.edu	37	chr17	30694866	30694866	+	Frame_Shift_Del	DEL	C	C	-																															cccctgcaacaactacagaaCccccaaagcctacattccct																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:30694866delC	ENST00000394670.4	+	10	1166	c.997delC	c.(997-999)ccfs	p.P334fs	ZNF207_ENST00000321233.6_Frame_Shift_Del_p.P318fs|ZNF207_ENST00000394673.2_Frame_Shift_Del_p.P303fs|ZNF207_ENST00000342555.6_Frame_Shift_Del_p.P337fs|ZNF207_ENST00000577908.1_Frame_Shift_Del_p.P334fs|ZNF207_ENST00000341711.6_Frame_Shift_Del_p.P235fs	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	318						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AACTACAGAACCCCCAAAGCC	0.423													10	106	---	---	---	---					-	30694866	C	-	30694866	7	5	356	1	0	1	0	1	0	0	0	0	17860	507	18	0	1035	0	ZNF207	17	30694866	Frame_Shift_Del	DEL	C	TCGA-CV-A6K1-01A-11D-A31L-08	2717131	30694866	50500344	464	67178											
TMEM132E	124842	broad.mit.edu	37	chr17	32954000	32954000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctcaagcccggggaaGtgctcagcatcctcctctat	7	8	10	16	1	3	0	2	0	1	0	5	1	5	1	5	3	3	2	5	3	3	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:32954000G>T	ENST00000321639.5	+	3	980	c.652G>T	c.(652-654)Gtg>Ttg	p.V218L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	218						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCCGGGGAAGTGCTCAGCAT	0.657													49	91					9.55421e-19	1.148e-18	1	0	T	32954000	G	T	32954000	3	4	356	1	0	0	0	0	1	0	0	0	16142	1029	36	4	662	4	TMEM132E	17	32954000	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2259134	32954000	48241210	465	67179											
GAS2L2	246176	broad.mit.edu	37	chr17	34074112	34074112	+	Frame_Shift_Del	DEL	G	G	-																															ggtctgggggaggatggggtGgggggcctcagccttcggtc																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:34074112delG	ENST00000254466.6	-	5	1035	c.1008delC	c.(1006-1008)ccfs	p.P336fs	GAS2L2_ENST00000587565.1_Frame_Shift_Del_p.P320fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	336					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGATGGGGTGGGGGGCCTCA	0.632													25	64	---	---	---	---					-	34074112	G	-	34074112	7	5	356	1	0	1	0	1	0	0	0	0	6296	1335	47	0	1642	0	GAS2L2	17	34074112	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	1120112	34074112	47121098	466	67180											
PIGW	284098	broad.mit.edu	37	chr17	34894126	34894127	+	Frame_Shift_Ins	INS	-	-	A																															gtagtttattactgggtgatINSataattttgagttttgccaa																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:34894126_34894127insA	ENST00000592983.1	+	2	1756_1757	c.1176_1177insA	c.(1174-1179)gataatfs	p.DN392fs	PIGW_ENST00000328396.2_Frame_Shift_Ins_p.DN392fs|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	392					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TACTGGGTGATATAATTTTGAG	0.337													20	52	---	---	---	---					A	34894127	-	A	34894126	7	5	356	1	0	1	1	0	0	0	0	0	11974	1403	49	0	1178	0	PIGW	17	34894126	Frame_Shift_Ins	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	820014	34894126	46301084	467	67181											
GPR179	440435	broad.mit.edu	37	chr17	36484801	36484801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctttggatgaggaattgtCtagacatgggctggagtgcc	9	11	15	6	0	1	2	0	1	1	1	1	5	1	5	1	4	2	2	1	4	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:36484801C>G	ENST00000342292.4	-	11	4671	c.4651G>C	c.(4651-4653)Gac>Cac	p.D1551H		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1551						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGGAATTGTCTAGACATGGG	0.537													58	105					0	0	0	0	G	36484801	C	G	36484801	3	3	356	1	0	0	0	0	1	0	0	0	6723	913	32	2	2456	2	GPR179	17	36484801	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1590675	36484801	44710409	468	67182											
CWC25	54883	broad.mit.edu	37	chr17	36977254	36977254	+	Missense_Mutation	SNP	C	C	T																															aatcttcttccgctcagcctCatgcttctgctcggccttcc																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:36977254C>T	ENST00000225428.4	-	2	388	c.91G>A	c.(91-93)Gag>Aag	p.E31K	CWC25_ENST00000536127.1_5'UTR	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	31										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CGCTCAGCCTCATGCTTCTGC	0.542													49	95					0	0	0	0	T	36977254	C	T	36977254	3	4	356	1	0	0	0	0	1	0	0	0	4101	835	29	2	1222	2	CWC25	17	36977254	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	492453	36977254	44217956	469	67183	824	2									
CWC25	54883	broad.mit.edu	37	chr17	36977261	36977261	+	Silent	SNP	C	C	T																															ttccgctcagcctcatgcttCtgctcggccttccacacttt																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:36977261C>T	ENST00000225428.4	-	2	381	c.84G>A	c.(82-84)caG>caA	p.Q28Q	CWC25_ENST00000536127.1_5'UTR	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	28										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CCTCATGCTTCTGCTCGGCCT	0.537													46	88					0	0	0	0	T	36977261	C	T	36977261	2	4	356	1	0	0	0	0	0	0	0	1	4101	912	32	2		2	CWC25	17	36977261	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	7	36977261	44217949	470	67184	824	2									
TOP2A	7153	broad.mit.edu	37	chr17	38569176	38569176	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtataatcttctccattgaaGggcttgagttccatctcacc	9	14	7	11	0	3	2	1	2	3	0	6	2	4	2	3	1	0	3	3	1	3	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:38569176G>T	ENST00000423485.1	-	7	782	c.624C>A	c.(622-624)ccC>ccA	p.P208P		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	208					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTCCATTGAAGGGCTTGAGTT	0.373													8	24					0.000274275	0.000279742	1	0	T	38569176	G	T	38569176	2	4	356	1	0	0	0	0	0	0	0	1	16460	987	35	4		4	TOP2A	17	38569176	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1591915	38569176	42626034	471	67185											
ZNF652	22834	broad.mit.edu	37	chr17	47395006	47395006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatggcacttgaccacgacGgctatcttcttgtgccattc	8	12	9	12	2	2	2	0	1	2	1	3	3	2	2	2	2	1	2	2	2	1	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:47395006G>A	ENST00000362063.2	-	2	400	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	ZNF652_ENST00000430262.2_Missense_Mutation_p.R28C	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TGACCACGACGGCTATCTTCT	0.468													14	25					0	0	0	0	A	47395006	G	A	47395006	3	1	356	1	0	0	0	0	1	0	0	0	18160	1116	39	1	1758	1	ZNF652	17	47395006	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	8825830	47395006	33800204	472	67186											
MYCBPAP	84073	broad.mit.edu	37	chr17	48603302	48603302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcgccagtacatgaccCtgcccgccaaggctgaggag	8	6	14	13	2	0	2	0	2	0	0	0	3	0	3	4	3	2	2	4	3	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:48603302C>A	ENST00000323776.5	+	14	2134	c.1972C>A	c.(1972-1974)Ctg>Atg	p.L658M	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.L621M	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	621					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GTACATGACCCTGCCCGCCAA	0.607													8	146					0.000157383	0.000161324	1	0	A	48603302	C	A	48603302	3	1	356	1	0	0	0	0	1	0	0	0	10089	680	24	4	2026	4	MYCBPAP	17	48603302	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1208296	48603302	32591908	473	67187											
DGKE	8526	broad.mit.edu	37	chr17	54912400	54912400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtgcgcgcagcacattCtgcagggcgccttctgcgac	5	8	14	14	5	2	0	0	0	2	0	2	1	2	0	1	1	4	3	1	1	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:54912400C>A	ENST00000284061.3	+	2	424	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	DGKE_ENST00000576869.1_3'UTR|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000572810.1_Missense_Mutation_p.L82M	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	82					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GCAGCACATTCTGCAGGGCGC	0.642													26	49					3.28513e-13	3.72841e-13	1	0	A	54912400	C	A	54912400	3	1	356	1	0	0	0	0	1	0	0	0	4505	912	32	2	246	2	DGKE	17	54912400	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	6309098	54912400	26282810	474	67188											
TRIM25	7706	broad.mit.edu	37	chr17	54985903	54985903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatctgactgtacatgacagTtagtttgtgcctcagggtgg	8	13	13	7	0	2	2	1	2	1	0	2	3	2	2	1	2	2	3	1	2	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:54985903T>C	ENST00000316881.4	-	2	668	c.619A>G	c.(619-621)Act>Gct	p.T207A	TRIM25_ENST00000537230.1_Missense_Mutation_p.T207A	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	207	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TACATGACAGTTAGTTTGTGC	0.562													28	76					0	0	0	0	C	54985903	T	C	54985903	3	2	356	1	0	0	0	0	1	0	0	0	16594	1725	60	5	1305	5	TRIM25	17	54985903	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	73503	54985903	26209307	475	67189											
MPO	4353	broad.mit.edu	37	chr17	56349243	56349243	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccacagaagcgcctccaGgcattgtatcctgcatgggg	9	7	12	13	1	0	1	0	0	0	1	2	1	2	1	4	3	3	3	4	3	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:56349243G>T	ENST00000340482.3	-	10	2075	c.1899C>A	c.(1897-1899)gcC>gcA	p.A633A	MPO_ENST00000225275.3_Silent_p.A601A			P05164	PERM_HUMAN	myeloperoxidase	601					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	AGCGCCTCCAGGCATTGTATC	0.582													37	87					1.96642e-18	2.34899e-18	1	0	T	56349243	G	T	56349243	2	4	356	1	0	0	0	0	0	0	0	1	9802	987	35	4		4	MPO	17	56349243	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1363340	56349243	24845967	476	67190											
BRIP1	83990	broad.mit.edu	37	chr17	59934430	59934430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaattaccttgacaagttGatgaagtgccatttctttca	13	15	6	7	0	2	3	1	3	1	0	2	3	2	3	2	0	2	1	2	0	5	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:59934430G>A	ENST00000259008.2	-	4	635	c.368C>T	c.(367-369)tCa>tTa	p.S123L	BRIP1_ENST00000577598.1_Missense_Mutation_p.S123L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	123	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTGACAAGTTGATGAAGTGCC	0.338			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					38	104					0	0	0	0	A	59934430	G	A	59934430	3	1	356	1	0	0	0	0	1	0	0	0	1522	1294	45	2	3449	2	BRIP1	17	59934430	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	3585187	59934430	21260780	477	67191											
PSMC5	5705	broad.mit.edu	37	chr17	61908487	61908487	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgactccatcggctcctcGcggctggaggggggttctgg	4	9	16	12	4	1	0	0	0	1	0	6	2	3	1	2	7	0	3	2	7	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:61908487G>A	ENST00000310144.6	+	8	1079	c.771G>A	c.(769-771)tcG>tcA	p.S257S	PSMC5_ENST00000375812.4_Silent_p.S249S|PSMC5_ENST00000581882.1_Silent_p.S249S|PSMC5_ENST00000580864.1_Silent_p.S249S	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	257					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TCGGCTCCTCGCGGCTGGAGG	0.572													38	96					0	0	0	0	A	61908487	G	A	61908487	2	1	356	1	0	0	0	0	0	0	0	1	12769	1074	38	1		1	PSMC5	17	61908487	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1974057	61908487	19286723	478	67192											
TMEM104	54868	broad.mit.edu	37	chr17	72832602	72832602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgacctggagtccctggtgGgcatcacaggggcctacgcg	7	6	15	13	3	1	0	1	0	0	0	2	2	2	1	3	5	1	1	3	5	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:72832602G>T	ENST00000335464.5	+	10	1429	c.1267G>T	c.(1267-1269)Ggc>Tgc	p.G423C	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.G423C|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	423						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GTCCCTGGTGGGCATCACAGG	0.672													23	63					1.10923e-09	1.21837e-09	1	0	T	72832602	G	T	72832602	3	4	356	1	0	0	0	0	1	0	0	0	16112	1232	43	4	1301	4	TMEM104	17	72832602	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	10924115	72832602	8362608	479	67193											
JMJD6	23210	broad.mit.edu	37	chr17	74720008	74720008	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtctcgggtcactttgatGagttccctgggagtgctggt	4	14	14	9	2	2	2	1	2	1	0	5	3	3	3	1	3	1	2	1	3	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:74720008G>A	ENST00000445478.2	-	3	854	c.651C>T	c.(649-651)ctC>ctT	p.L217L	JMJD6_ENST00000585429.1_Silent_p.L217L|JMJD6_ENST00000397625.4_Silent_p.L217L	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	217	JmjC.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCACTTTGATGAGTTCCCTGG	0.542													43	84					0	0	0	0	A	74720008	G	A	74720008	2	1	356	1	0	0	0	0	0	0	0	1	8006	1277	45	2		2	JMJD6	17	74720008	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1887406	74720008	6475202	480	67194											
BIRC5	332	broad.mit.edu	37	chr17	76212113	76212113	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccgaggcgggcggatcacGaggtcaggagatcgagacca	10	3	18	10	5	2	2	2	0	0	2	3	7	2	3	2	6	0	0	2	6	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:76212113G>A	ENST00000301633.4	+	3	419	c.288G>A	c.(286-288)acG>acA	p.T96T	AC087645.1_ENST00000600484.1_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000350051.3_Intron	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	74					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			ggcggatcacgaggtcaggag	0.557													7	19					0	0	0	0	A	76212113	G	A	76212113	2	1	356	1	0	0	0	0	0	0	0	1	1442	1045	37	1		1	BIRC5	17	76212113	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1492105	76212113	4983097	481	67195											
EIF4A3	9775	broad.mit.edu	37	chr17	78115168	78115168	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagccaagatcaaagcttGagtttcacgaacctggtgaa	13	8	12	8	1	2	3	2	2	0	1	2	5	2	4	2	2	3	2	2	2	4	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:78115168G>C	ENST00000269349.3	-	4	543	c.322C>G	c.(322-324)Caa>Gaa	p.Q108E		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	108	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			ATCAAAGCTTGAGTTTCACGA	0.398													26	70					0	0	0	0	C	78115168	G	C	78115168	3	2	356	1	0	0	0	0	1	0	0	0	5064	1299	45	2	949	2	EIF4A3	17	78115168	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1903055	78115168	3080042	482	67196											
SGSH	6448	broad.mit.edu	37	chr17	78184432	78184432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtctcgtgggggtccCggctccggtcgtagagctcc	2	10	16	13	4	2	1	0	0	2	1	7	1	5	1	3	5	1	3	3	5	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:78184432C>T	ENST00000326317.6	-	8	1414	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q	SGSH_ENST00000534910.1_Missense_Mutation_p.R240Q	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	443					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTGGGGGTCCCGGCTCCGGTC	0.657													14	34					0	0	0	0	T	78184432	C	T	78184432	3	4	356	1	0	0	0	0	1	0	0	0	14308	652	23	1	184	1	SGSH	17	78184432	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	69264	78184432	3010778	483	67197											
RNF213	57674	broad.mit.edu	37	chr17	78263552	78263553	+	Frame_Shift_Ins	INS	-	-	G																															gaagacctcaagaagccagaINSggggaagaacagaagtgcag																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:78263552_78263553insG	ENST00000582970.1	+	6	1171_1172	c.1028_1029insG	c.(1027-1029)gggfs	p.G343fs	RNF213_ENST00000319921.4_Frame_Shift_Ins_p.G343fs|RNF213_ENST00000456466.1_Frame_Shift_Ins_p.G343fs|RNF213_ENST00000508628.2_Frame_Shift_Ins_p.G392fs	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	343										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGAAGCCAGAGGGGAAGAACA	0.515													13	40	---	---	---	---					G	78263553	-	G	78263552	7	5	356	1	0	1	1	0	0	0	0	0	13562	304	11	0	1197	0	RNF213	17	78263552	Frame_Shift_Ins	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	79120	78263552	2931658	484	67198											
CHMP6	79643	broad.mit.edu	37	chr17	78972931	78972931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggccaggcccaggcaggCggagctggtggcagcttcgt	7	5	17	12	2	0	0	0	0	0	0	1	1	0	1	2	7	2	4	2	7	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:78972931C>T	ENST00000325167.5	+	8	662	c.584C>T	c.(583-585)gCg>gTg	p.A195V		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	195					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding	p.A195V(1)		lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCCAGGCAGGCGGAGCTGGTG	0.617													26	71					0	0	0	0	T	78972931	C	T	78972931	3	4	356	1	0	0	0	0	1	0	0	0	3389	768	27	1	614	1	CHMP6	17	78972931	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	709379	78972931	2222279	485	67199											
AZI1	22994	broad.mit.edu	37	chr17	79193748	79193748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgatgggcttggtggtggCggcactgccaggacgccggg	5	6	20	10	4	0	0	0	0	0	0	0	3	0	1	2	7	1	2	2	7	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:79193748C>T	ENST00000269392.4	-	2	356	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	AZI1_ENST00000575907.1_Missense_Mutation_p.A37T|AZI1_ENST00000374782.3_Missense_Mutation_p.A37T|AZI1_ENST00000450824.2_Missense_Mutation_p.A37T	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	37					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTGGTGGTGGCGGCACTGCCA	0.682													45	101					0	0	0	0	T	79193748	C	T	79193748	3	4	356	1	0	0	0	0	1	0	0	0	1244	768	27	1	3233	1	AZI1	17	79193748	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	220817	79193748	2001462	486	67200											
FASN	2194	broad.mit.edu	37	chr17	80043275	80043275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagaggctctcccacgCgtcctgtgggggcggtggtc	5	7	18	11	3	1	2	0	0	1	2	4	3	2	2	2	6	0	1	2	6	1	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:80043275C>T	ENST00000306749.2	-	24	4344	c.4126G>A	c.(4126-4128)Gcg>Acg	p.A1376T		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1376					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CTCTCCCACGCGTCCTGTGGG	0.731													5	22					0	0	0	0	T	80043275	C	T	80043275	3	4	356	1	0	0	0	0	1	0	0	0	5728	768	27	1	3489	1	FASN	17	80043275	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	849527	80043275	1151935	487	67201											
FOXK2	3607	broad.mit.edu	37	chr17	80559213	80559213	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacatgttggcaacacaCgcatccgcatcggcctccct	8	9	8	16	3	0	0	0	0	0	0	3	0	2	0	3	2	2	5	3	2	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:80559213C>T	ENST00000335255.5	+	9	1995	c.1821C>T	c.(1819-1821)caC>caT	p.H607H	FOXK2_ENST00000529652.1_3'UTR	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	607					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TGGCAACACACGCATCCGCAT	0.627													22	58					0	0	0	0	T	80559213	C	T	80559213	2	4	356	1	0	0	0	0	0	0	0	1	6062	535	19	1		1	FOXK2	17	80559213	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	515938	80559213	635997	488	67202											
RAB40B	10966	broad.mit.edu	37	chr17	80615805	80615805	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggggggcggacgagcttCactttgcggaggctgctcct	4	9	18	10	3	1	0	1	0	0	0	2	3	2	2	1	7	3	3	1	7	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:80615805C>A	ENST00000571995.1	-	6	902	c.771G>T	c.(769-771)gtG>gtT	p.V257V	RAB40B_ENST00000538809.2_3'UTR|RAB40B_ENST00000269347.6_Silent_p.V78V	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	257					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GGACGAGCTTCACTTTGCGGA	0.572													55	136					8.95456e-52	1.12897e-51	1	0	A	80615805	C	A	80615805	2	1	356	1	0	0	0	0	0	0	0	1	13023	813	29	2		2	RAB40B	17	80615805	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	56592	80615805	579405	489	67203											
CEP192	55125	broad.mit.edu	37	chr18	13057631	13057631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcctcatgcttgctgtGtcgggatcgcttcccagacc	5	12	10	14	2	1	1	1	0	0	1	5	2	3	2	3	1	3	4	3	1	0	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:13057631G>C	ENST00000506447.1	+	20	4236	c.4156G>C	c.(4156-4158)Gtc>Ctc	p.V1386L	CEP192_ENST00000430049.2_Missense_Mutation_p.V911L|CEP192_ENST00000325971.8_Missense_Mutation_p.V790L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	981										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGCTTGCTGTGTCGGGATCGC	0.512													17	44					0	0	0	0	C	13057631	G	C	13057631	3	2	356	1	0	0	0	0	1	0	0	0	3280	1377	48	4	4230	4	CEP192	18	13057631	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08		13057631	65019617	490	67204											
MC2R	4158	broad.mit.edu	37	chr18	13884786	13884786	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtaggggttacttgggcaGaatgtcatcaagaggacatg	12	9	14	6	0	2	2	2	0	0	2	2	3	2	3	0	4	1	3	0	4	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:13884786G>A	ENST00000327606.3	-	2	912	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	244					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TACTTGGGCAGAATGTCATCA	0.527													23	65					0	0	0	0	A	13884786	G	A	13884786	2	1	356	1	0	0	0	0	0	0	0	1	9433	933	33	2		2	MC2R	18	13884786	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	827155	13884786	64192462	491	67205											
CCDC11	220136	broad.mit.edu	37	chr18	47753777	47753777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggaagcttactggggcatgCcttgcgcatgggatgaatgt	8	11	15	7	1	0	1	0	1	0	0	0	3	0	3	1	4	4	3	1	4	3	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:47753777C>T	ENST00000398545.4	-	8	1636	c.1519G>A	c.(1519-1521)Gca>Aca	p.A507T		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	507										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CTGGGGCATGCCTTGCGCATG	0.438													25	15					0	0	0	0	T	47753777	C	T	47753777	3	4	356	1	0	0	0	0	1	0	0	0	2771	739	26	4	29	4	CCDC11	18	47753777	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	33868991	47753777	30323471	492	67206											
RTTN	25914	broad.mit.edu	37	chr18	67836150	67836150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattgaataaacggcctctgCagttcgtttataaatactgt	13	14	7	7	2	1	1	0	1	1	0	2	1	1	1	1	1	3	3	1	1	8	7			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:67836150C>T	ENST00000255674.6	-	12	1916	c.1630G>A	c.(1630-1632)Gca>Aca	p.A544T	RTTN_ENST00000437017.1_Missense_Mutation_p.A544T|RTTN_ENST00000454359.1_Missense_Mutation_p.A544T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	544							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACGGCCTCTGCAGTTCGTTTA	0.353													24	40					0	0	0	0	T	67836150	C	T	67836150	3	4	356	1	0	0	0	0	1	0	0	0	13822	710	25	4	5202	4	RTTN	18	67836150	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	20082373	67836150	10241098	493	67207											
ZNF236	7776	broad.mit.edu	37	chr18	74593273	74593273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acagtgggctgtcttcaattCcagctgcagcacatcctaat	10	11	8	12	0	2	0	1	0	1	0	4	0	4	0	2	1	3	4	2	1	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:74593273C>T	ENST00000253159.8	+	9	1414	c.1216C>T	c.(1216-1218)Cca>Tca	p.P406S	ZNF236_ENST00000320610.9_Missense_Mutation_p.P408S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	406					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTCTTCAATTCCAGCTGCAGC	0.483													38	39					0	0	0	0	T	74593273	C	T	74593273	3	4	356	1	0	0	0	0	1	0	0	0	17884	855	30	2	1250	2	ZNF236	18	74593273	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	6757123	74593273	3483975	494	67208											
MIER2	54531	broad.mit.edu	37	chr19	307340	307340	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggccagccttgggctggcGtctggctccggagcagtgac	5	7	16	13	3	1	1	0	1	1	0	2	2	2	2	3	5	2	3	3	5	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:307340G>A	ENST00000264819.4	-	13	1405	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TTGGGCTGGCGTCTGGCTCCG	0.687													8	14					0	0	0	0	A	307340	G	A	307340	2	1	356	1	0	0	0	0	0	0	0	1	9650	1136	40	1		1	MIER2	19	307340	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08		307340	58821643	495	67209											
ABCA7	10347	broad.mit.edu	37	chr19	1043811	1043811	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggatcttcaccttcatgAacgacagttccaatgtggcc	9	10	8	14	2	3	1	2	1	1	0	4	3	4	2	4	2	1	1	4	2	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:1043811A>G	ENST00000263094.6	+	10	1249	c.1018A>G	c.(1018-1020)Aac>Gac	p.N340D	ABCA7_ENST00000435683.2_Missense_Mutation_p.N202D|ABCA7_ENST00000433129.1_Missense_Mutation_p.N340D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	340					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CACCTTCATGAACGACAGTTC	0.637													94	231					0	0	0	0	G	1043811	A	G	1043811	3	3	356	1	0	0	0	0	1	0	0	0	37	246	9	5	1052	5	ABCA7	19	1043811	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	736471	1043811	58085172	496	67210											
CHAF1A	10036	broad.mit.edu	37	chr19	4423354	4423354	+	Frame_Shift_Del	DEL	A	A	-																															ctaaacttgaggaaaaaaggAaaaaggaagaagagaaacgg																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:4423354delA	ENST00000301280.5	+	6	1371	c.1270delA	c.(1270-1272)aafs	p.K425fs		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	425	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAAAAAGGAAAAAGGAAGA	0.483								Chromatin Structure					35	66	---	---	---	---					-	4423354	A	-	4423354	7	5	356	1	0	1	0	1	0	0	0	0	3340	247	9	0	1292	0	CHAF1A	19	4423354	Frame_Shift_Del	DEL	A	TCGA-CV-A6K1-01A-11D-A31L-08	3379543	4423354	54705629	497	67211											
PNPLA6	10908	broad.mit.edu	37	chr19	7619527	7619527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacggacgcctcgctgaCgccctggaccgtgcgctgcc	5	5	13	18	6	0	2	0	1	0	1	1	4	0	4	5	2	2	2	5	2	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:7619527C>T	ENST00000221249.6	+	24	2869	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	PNPLA6_ENST00000545201.2_Missense_Mutation_p.T786M|PNPLA6_ENST00000414982.3_Missense_Mutation_p.T861M|PNPLA6_ENST00000450331.3_Missense_Mutation_p.T813M|PNPLA6_ENST00000600737.1_Missense_Mutation_p.T851M	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	852					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCTCGCTGACGCCCTGGACC	0.672													32	88					0	0	0	0	T	7619527	C	T	7619527	3	4	356	1	0	0	0	0	1	0	0	0	12241	536	19	1	2668	1	PNPLA6	19	7619527	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3196173	7619527	51509456	498	67212											
KRI1	65095	broad.mit.edu	37	chr19	10675657	10675657	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatgcgggggtccttcttCttcaacaaggagagcgtttt	9	13	11	8	2	3	1	1	0	2	1	4	2	4	1	1	3	3	1	1	3	4	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:10675657C>T	ENST00000312962.6	-	3	259	c.240G>A	c.(238-240)aaG>aaA	p.K80K	KRI1_ENST00000361821.5_Silent_p.K76K|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	80										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGTCCTTCTTCTTCAACAAGG	0.488											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	112					0	0	0	0	T	10675657	C	T	10675657	2	4	356	1	0	0	0	0	0	0	0	1	8496	912	32	2		2	KRI1	19	10675657	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3056130	10675657	48453326	499	67213											
DNM2	1785	broad.mit.edu	37	chr19	10923013	10923013	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaggagtactggtttgTgctgactgccgagtcactgt	7	12	12	10	1	1	1	1	1	0	0	2	3	2	2	2	2	3	3	2	2	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:10923013T>C	ENST00000314646.5	+	15	1795	c.1631T>C	c.(1630-1632)gTg>gCg	p.V544A	DNM2_ENST00000389253.4_Missense_Mutation_p.V544A|DNM2_ENST00000355667.6_Missense_Mutation_p.V544A|DNM2_ENST00000585892.1_Missense_Mutation_p.V544A|DNM2_ENST00000359692.6_Missense_Mutation_p.V540A|DNM2_ENST00000408974.4_Missense_Mutation_p.V540A			P50570	DYN2_HUMAN	dynamin 2	544	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TACTGGTTTGTGCTGACTGCC	0.622			"F, N, Splice, Mis, O"		ETP ALL								10	9					0	0	0	0	C	10923013	T	C	10923013	3	2	356	1	0	0	0	0	1	0	0	0	4708	1696	59	5	1832	5	DNM2	19	10923013	Missense_Mutation	SNP	T	TCGA-CV-A6K1-01A-11D-A31L-08	247356	10923013	48205970	500	67214											
TSPAN16	26526	broad.mit.edu	37	chr19	11422814	11422814	+	Splice_Site	DEL	G	G	-																															ttttggtgtttgtttcctcaGggctgtttccataaactcct																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:11422814delG	ENST00000316737.1	+	6	753		c.e6-1		CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Splice_Site|TSPAN16_ENST00000590327.1_Splice_Site	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16							integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TGTTTCCTCAGGGCTGTTTCC	0.507													9	28	---	---	---	---					-	11422814	G	-	11422814	8	5	356	1	0	1	0	1	0	0	1	0	16735	1014	35	0	625	0	TSPAN16	19	11422814	Splice_Site	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	499801	11422814	47706169	501	67215											
TRMT1	55621	broad.mit.edu	37	chr19	13221024	13221024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagacacggacaaaaacacGcacgtagaagtcagcgctga	17	3	11	10	4	1	3	1	1	0	2	1	5	1	4	0	1	2	3	0	1	5	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:13221024G>A	ENST00000592062.1	-	9	1537	c.967C>T	c.(967-969)Cgt>Tgt	p.R323C	TRMT1_ENST00000357720.4_Missense_Mutation_p.R323C|TRMT1_ENST00000221504.8_Missense_Mutation_p.R323C|TRMT1_ENST00000437766.1_Missense_Mutation_p.R323C			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	323							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		ACAAAAACACGCACGTAGAAG	0.632													25	64					0	0	0	0	A	13221024	G	A	13221024	3	1	356	1	0	0	0	0	1	0	0	0	16656	1087	38	1	1052	1	TRMT1	19	13221024	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1798210	13221024	45907959	502	67216											
LPHN1	22859	broad.mit.edu	37	chr19	14273691	14273691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcgttggatgccgagcGcttgtcgtaacccgtctccc	6	9	13	13	5	1	0	0	0	1	0	3	3	1	1	3	2	3	3	3	2	2	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:14273691G>A	ENST00000340736.6	-	6	1234	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	LPHN1_ENST00000361434.3_Missense_Mutation_p.R308C|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	313	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATGCCGAGCGCTTGTCGTAA	0.622													8	23					0	0	0	0	A	14273691	G	A	14273691	3	1	356	1	0	0	0	0	1	0	0	0	8979	1087	38	1	3563	1	LPHN1	19	14273691	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1052667	14273691	44855292	503	67217											
PKN1	5585	broad.mit.edu	37	chr19	14562741	14562741	+	Frame_Shift_Del	DEL	C	C	-																															cctgggaccccagacagccgCccccccttcctgagccgccc																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:14562741delC	ENST00000242783.6	+	7	1236	c.1071delC	c.(1069-1071)cgfs	p.R357fs	PKN1_ENST00000342216.4_Frame_Shift_Del_p.R363fs	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	357	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	p.F360fs*2(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGACAGCCGCCCCCCCTTCC	0.667													12	27	---	---	---	---					-	14562741	C	-	14562741	7	5	356	1	0	1	0	1	0	0	0	0	12051	726	26	0	1140	0	PKN1	19	14562741	Frame_Shift_Del	DEL	C	TCGA-CV-A6K1-01A-11D-A31L-08	289050	14562741	44566242	504	67218											
CLEC17A	388512	broad.mit.edu	37	chr19	14705582	14705582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctaggcctggacctcGccgctgtcacctgtccacct	4	11	8	18	2	3	0	1	0	2	0	5	1	4	1	6	2	0	1	6	2	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:14705582G>A	ENST00000547437.1	+	7	450	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	CLEC17A_ENST00000397439.2_Missense_Mutation_p.A108T|CLEC17A_ENST00000417570.1_Missense_Mutation_p.A125T	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	125						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										CCTGGACCTCGCCGCTGTCAC	0.527													9	30					0	0	0	0	A	14705582	G	A	14705582	3	1	356	1	0	0	0	0	1	0	0	0	3531	1087	38	1	344	1	CLEC17A	19	14705582	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	142841	14705582	44423401	505	67219											
NOTCH3	4854	broad.mit.edu	37	chr19	15302405	15302405	+	Frame_Shift_Del	DEL	C	C	-																															ccagcgtgttgaagcaggtaCccccattgtggcaggcgttg																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:15302405delC	ENST00000263388.2	-	6	941	c.866delG	c.(865-867)gtfs	p.G289fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	289	EGF-like 7.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GAAGCAGGTACCCCCATTGTG	0.612													15	34	---	---	---	---					-	15302405	C	-	15302405	7	5	356	1	0	1	0	1	0	0	0	0	10620	507	18	0	6211	0	NOTCH3	19	15302405	Frame_Shift_Del	DEL	C	TCGA-CV-A6K1-01A-11D-A31L-08	596823	15302405	43826578	506	67220											
OR10H5	284433	broad.mit.edu	37	chr19	15905096	15905096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccgtggccatcatcccgCgcatgctggccgacctgctg	6	7	11	17	4	1	0	1	0	0	0	2	1	2	0	5	2	2	3	5	2	0	0	rs142693914		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:15905096C>T	ENST00000308940.8	+	1	336	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CATCATCCCGCGCATGCTGGC	0.617													33	56					0	0	0	0	T	15905096	C	T	15905096	3	4	356	1	0	0	0	0	1	0	0	0	10980	768	27	1	240	1	OR10H5	19	15905096	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	602691	15905096	43223887	507	67221											
OCEL1	79629	broad.mit.edu	37	chr19	17339665	17339665	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactacctgaagggtaaactGaggcatctcaagactcagat	14	8	9	10	0	2	4	2	2	1	2	3	4	2	4	1	2	2	2	1	2	5	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:17339665G>A	ENST00000215061.4	+	6	770	c.726G>A	c.(724-726)ctG>ctA	p.L242L	OCEL1_ENST00000601529.1_3'UTR|OCEL1_ENST00000597836.1_Silent_p.L186L	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	242										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						AGGGTAAACTGAGGCATCTCA	0.572													30	55					0	0	0	0	A	17339665	G	A	17339665	2	1	356	1	0	0	0	0	0	0	0	1	10887	1277	45	2		2	OCEL1	19	17339665	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1434569	17339665	41789318	508	67222											
LPAR2	9170	broad.mit.edu	37	chr19	19737403	19737403	+	Frame_Shift_Del	DEL	G	G	-																															gagcgtggtctctcggtagcGggggtggcagctgacatgct																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:19737403delG	ENST00000542587.1	-	5	1593	c.691delC	c.(691-693)gcfs	p.R231fs	LPAR2_ENST00000407877.3_Frame_Shift_Del_p.R231fs|LPAR2_ENST00000586703.1_Frame_Shift_Del_p.R231fs			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	231					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						TCTCGGTAGCGGGGGTGGCAG	0.617													51	134	---	---	---	---					-	19737403	G	-	19737403	7	5	356	1	0	1	0	1	0	0	0	0	8969	1116	39	0	372	0	LPAR2	19	19737403	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	2397738	19737403	39391580	509	67223											
ZNF85	7639	broad.mit.edu	37	chr19	21132352	21132353	+	Frame_Shift_Ins	INS	-	-	A																															gagagaaaccctacaaatgtINSaaaaaatgtggaaaagcctt																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:21132352_21132353insA	ENST00000601023.1	+	2	1501_1502	c.855_856insA	c.(853-858)tgaaaafs	p.*K285fs	ZNF85_ENST00000345030.6_Frame_Shift_Ins_p.*K311fs|ZNF85_ENST00000328178.8_Frame_Shift_Ins_p.*K344fs			Q03923	ZNF85_HUMAN	zinc finger protein 85	344						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CCTACAAATGTAAAAAATGTGG	0.376													16	45	---	---	---	---					A	21132353	-	A	21132352	7	5	356	1	0	1	1	0	0	0	0	0	18286	1644	57	0	1046	0	ZNF85	19	21132352	Frame_Shift_Ins	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	1394949	21132352	37996631	510	67224											
C19orf12	83636	broad.mit.edu	37	chr19	30199207	30199207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaacccccgacgaaggcCatggcccctgtgaccagggc	10	3	11	17	2	0	1	0	1	0	0	0	3	0	1	7	3	1	0	7	3	2	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:30199207C>A	ENST00000323670.9	-	2	253	c.114G>T	c.(112-114)atG>atT	p.M38I	C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000392278.2_Missense_Mutation_p.M49I|C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000592153.1_Missense_Mutation_p.M38I	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	38						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CGACGAAGGCCATGGCCCCTG	0.612													29	66					7.38237e-10	8.13783e-10	1	0	A	30199207	C	A	30199207	3	1	356	1	0	0	0	0	1	0	0	0	1927	594	21	4	319	4	C19orf12	19	30199207	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	9066855	30199207	28929776	511	67225											
MAG	4099	broad.mit.edu	37	chr19	35804289	35804289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcactcggacctggggaaaCggcccaccaaggacagctac	11	4	11	15	2	1	0	1	0	0	0	2	3	1	3	3	5	3	1	3	5	3	1	rs73031735	by1000genomes	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:35804289C>T	ENST00000392213.3	+	11	1972	c.1813C>T	c.(1813-1815)Cgg>Tgg	p.R605W	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.R580W	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	605					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGGGGAAACGGCCCACCAA	0.632													21	70					0	0	0	0	T	35804289	C	T	35804289	3	4	356	1	0	0	0	0	1	0	0	0	9227	527	19	1	1884	1	MAG	19	35804289	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	5605082	35804289	23324694	512	67226											
CLIP3	25999	broad.mit.edu	37	chr19	36515441	36515441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcttccagaagcgtccGcagctccttggccaccagtg	6	9	10	16	2	1	1	0	0	1	1	4	1	4	1	6	1	3	2	6	1	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:36515441G>A	ENST00000360535.4	-	7	1002	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R259W	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	259					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGAAGCGTCCGCAGCTCCTTG	0.602													28	60					0	0	0	0	A	36515441	G	A	36515441	3	1	356	1	0	0	0	0	1	0	0	0	3564	1086	38	1	900	1	CLIP3	19	36515441	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	711152	36515441	22613542	513	67227											
ACTN4	81	broad.mit.edu	37	chr19	39214921	39214921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcaaccacatcaagctgtCgggcagcaacccctacacca	13	4	8	16	1	1	0	1	0	0	0	2	1	1	0	4	1	6	4	4	1	4	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:39214921C>T	ENST00000252699.2	+	15	1893	c.1817C>T	c.(1816-1818)tCg>tTg	p.S606L	ACTN4_ENST00000390009.3_Missense_Mutation_p.S387L|ACTN4_ENST00000424234.2_Missense_Mutation_p.S216L	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	606					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCAAGCTGTCGGGCAGCAAC	0.652													17	35					0	0	0	0	T	39214921	C	T	39214921	3	4	356	1	0	0	0	0	1	0	0	0	207	893	31	1	1875	1	ACTN4	19	39214921	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	2699480	39214921	19914062	514	67228											
SUPT5H	6829	broad.mit.edu	37	chr19	39962359	39962359	+	Frame_Shift_Del	DEL	G	G	-																															cccgccacctggtgctggctGggggctcaaaggtgaggtgg																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:39962359delG	ENST00000599117.1	+	21	2306	c.1939delG	c.(1939-1941)ggfs	p.G648fs	SUPT5H_ENST00000598725.1_Frame_Shift_Del_p.G648fs|SUPT5H_ENST00000432763.2_Frame_Shift_Del_p.G648fs|SUPT5H_ENST00000359191.6_Frame_Shift_Del_p.G644fs|SUPT5H_ENST00000402194.2_Frame_Shift_Del_p.G644fs			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	648					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTGCTGGCTGGGGGCTCAAA	0.587													31	45	---	---	---	---					-	39962359	G	-	39962359	7	5	356	1	0	1	0	1	0	0	0	0	15489	1348	47	0	2013	0	SUPT5H	19	39962359	Frame_Shift_Del	DEL	G	TCGA-CV-A6K1-01A-11D-A31L-08	747438	39962359	19166624	515	67229											
EGLN2	112398	broad.mit.edu	37	chr19	41312517	41312517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtaaggcacgttgacaatCcccacggcgatgggcgctgc	9	6	13	13	5	0	1	0	1	0	0	1	2	1	1	2	3	1	4	2	3	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:41312517C>A	ENST00000593726.1	+	2	1929	c.901C>A	c.(901-903)Ccc>Acc	p.P301T	EGLN2_ENST00000406058.2_Missense_Mutation_p.P301T|EGLN2_ENST00000303961.4_Missense_Mutation_p.P301T|EGLN2_ENST00000594140.1_Missense_Mutation_p.P19T|CTC-490E21.12_ENST00000601627.1_Intron|RAB4B-EGLN2_ENST00000594136.1_3'UTR			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	301	Fe2OG dioxygenase.				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	CGTTGACAATCCCCACGGCGA	0.607											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	88					1.23713e-20	1.50415e-20	1	0	A	41312517	C	A	41312517	3	1	356	1	0	0	0	0	1	0	0	0	5005	855	30	2	907	2	EGLN2	19	41312517	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1350158	41312517	17816466	516	67230											
PRR19	284338	broad.mit.edu	37	chr19	42813763	42813763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagggaccagtctcccaGccttttcagcagcctgagaa	10	7	9	15	0	2	1	1	1	1	1	3	3	2	2	5	1	3	1	5	1	1	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:42813763G>T	ENST00000499536.2	+	1	838	c.27G>T	c.(25-27)caG>caT	p.Q9H	PRR19_ENST00000341747.3_Missense_Mutation_p.Q9H|PRR19_ENST00000598490.1_Missense_Mutation_p.Q9H			A6NJB7	PRR19_HUMAN	proline rich 19	9										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CAGTCTCCCAGCCTTTTCAGC	0.567													49	64					3.21987e-24	3.96193e-24	1	0	T	42813763	G	T	42813763	3	4	356	1	0	0	0	0	1	0	0	0	12671	962	34	4	29	4	PRR19	19	42813763	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1501246	42813763	16315220	517	67231											
MEGF8	1954	broad.mit.edu	37	chr19	42848890	42848890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcctgcgcctgtcttcGtcacgtccctggaggcctgc	2	9	15	15	3	2	0	1	0	1	0	4	1	3	1	4	4	2	0	4	4	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:42848890G>T	ENST00000334370.4	+	12	2637	c.2002G>T	c.(2002-2004)Gtc>Ttc	p.V668F	MEGF8_ENST00000251268.6_Missense_Mutation_p.V668F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	718						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCTGTCTTCGTCACGTCCCT	0.677													22	64					1.10923e-09	1.21837e-09	1	0	T	42848890	G	T	42848890	3	4	356	1	0	0	0	0	1	0	0	0	9532	1145	40	3	2048	3	MEGF8	19	42848890	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	35127	42848890	16280093	518	67232											
PSG8	440533	broad.mit.edu	37	chr19	43258544	43258544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtggctgagttacgaacaGagcaagcatagagcccgcta	13	6	12	10	2	0	3	0	1	0	2	0	4	0	3	1	1	5	5	1	1	5	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:43258544G>A	ENST00000404209.4	-	5	1280	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	PSG8_ENST00000406636.3_Missense_Mutation_p.S273F|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Missense_Mutation_p.S302F|PSG8_ENST00000306511.4_Missense_Mutation_p.S395F	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	395	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTACGAACAGAGCAAGCATA	0.448													92	219					0	0	0	0	A	43258544	G	A	43258544	3	1	356	1	0	0	0	0	1	0	0	0	12740	942	33	2	121	2	PSG8	19	43258544	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	409654	43258544	15870439	519	67233											
ZNF45	7596	broad.mit.edu	37	chr19	44417630	44417630	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgatgaatgataagacttGagctccaactgaagcccttc	12	10	9	10	0	0	6	0	5	0	1	2	6	1	6	2	0	3	2	2	0	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:44417630G>C	ENST00000269973.5	-	10	3048	c.1958C>G	c.(1957-1959)tCa>tGa	p.S653*	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Nonsense_Mutation_p.S653*	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	653					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						GATAAGACTTGAGCTCCAACT	0.448													29	58					0	0	0	0	C	44417630	G	C	44417630	4	2	356	1	0	0	0	0	0	1	0	0	18016	1294	45	2	94	2	ZNF45	19	44417630	Nonsense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1159086	44417630	14711353	520	67234											
CEACAM20	125931	broad.mit.edu	37	chr19	45024569	45024569	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccagttccagacctcacaGgcatagggccccgtgtcatt	8	8	9	16	1	2	1	2	0	0	1	3	1	3	1	6	2	0	2	6	2	1	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:45024569G>T	ENST00000454753.1	-	0	1247							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGACCTCACAGGCATAGGGCC	0.642													23	28					2.52088e-20	3.05893e-20	1	0	T	45024569	G	T	45024569	1	4	356	0	1	0	0	0	0	0	0	0	3220	987	35	4		4	CEACAM20	19	45024569	RNA	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	606939	45024569	14104414	521	67235											
CBLC	23624	broad.mit.edu	37	chr19	45281403	45281403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggcggaggcggccccggggGtcccggcggctctggggact	2	4	21	14	6	1	0	0	0	1	0	2	2	2	2	3	10	0	1	3	10	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:45281403G>T	ENST00000270279.3	+	1	278	c.215G>T	c.(214-216)gGt>gTt	p.G72V	CBLC_ENST00000341505.4_Missense_Mutation_p.G72V	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	72	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain 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)				ggccccgggggtcccggcggc	0.721			M		AML								5	13					1.23904e-05	1.29824e-05	1	0	T	45281403	G	T	45281403	3	4	356	1	0	0	0	0	1	0	0	0	2727	1261	44	4	217	4	CBLC	19	45281403	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	256834	45281403	13847580	522	67236											
PVRL2	5819	broad.mit.edu	37	chr19	45391455	45391455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctggggtcccccatccCggtgcctccagggccacctg	5	6	12	18	1	0	0	0	0	0	0	3	0	3	0	8	4	2	0	8	4	1	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:45391455C>T	ENST00000252483.5	+	9	1436	c.1436C>T	c.(1435-1437)cCg>cTg	p.P479L	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	479					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCCCCCATCCCGGTGCCTCCA	0.597													26	53					0	0	0	0	T	45391455	C	T	45391455	3	4	356	1	0	0	0	0	1	0	0	0	12922	652	23	1	1872	1	PVRL2	19	45391455	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	110052	45391455	13737528	523	67237											
RELB	5971	broad.mit.edu	37	chr19	45537531	45537531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggacaagaagcggaaaCgggggatgcccgacgtcctt	10	5	16	10	5	0	1	0	0	0	1	1	5	1	4	2	4	3	0	2	4	3	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:45537531C>T	ENST00000221452.8	+	10	1387	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	RELB_ENST00000540120.1_Missense_Mutation_p.R413W|RELB_ENST00000505236.1_Missense_Mutation_p.R410W	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	413	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GAAGCGGAAACGGGGGATGCC	0.512													27	44					0	0	0	0	T	45537531	C	T	45537531	3	4	356	1	0	0	0	0	1	0	0	0	13299	527	19	1	1267	1	RELB	19	45537531	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	146076	45537531	13591452	524	67238											
SIX5	147912	broad.mit.edu	37	chr19	46271377	46271377	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccagttgctgacctgcgtGagcgacaggccggtgagtgt	8	8	15	10	3	0	3	0	3	0	0	0	4	0	3	3	2	4	2	3	2	1	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:46271377G>A	ENST00000317578.6	-	1	1107	c.726C>T	c.(724-726)ctC>ctT	p.L242L	SIX5_ENST00000560168.1_Intron|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN	SIX homeobox 5	242						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGACCTGCGTGAGCGACAGGC	0.731													11	18					0	0	0	0	A	46271377	G	A	46271377	2	1	356	1	0	0	0	0	0	0	0	1	14438	1277	45	2		2	SIX5	19	46271377	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	733846	46271377	12857606	525	67239											
MYPOP	339344	broad.mit.edu	37	chr19	46393941	46393942	+	Frame_Shift_Ins	INS	-	-	G																															aaccttttctccgcttgtgtINSgggggggagtcgtgcggagg																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:46393941_46393942insG	ENST00000322217.5	-	3	1225_1226	c.1139_1140insC	c.(1138-1140)ccafs	p.P380fs		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	380	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						TCCGCTTGTGTGGGGGGGAGTC	0.644													11	23	---	---	---	---					G	46393942	-	G	46393941	7	5	356	1	0	1	1	0	0	0	0	0	10169	1683	59	0	63	0	MYPOP	19	46393941	Frame_Shift_Ins	INS	-	TCGA-CV-A6K1-01A-11D-A31L-08	122564	46393941	12735042	526	67240											
SAE1	10055	broad.mit.edu	37	chr19	47653537	47653537	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atagggctgaagcctctttgGagcgagctcagaatctcaac	11	9	11	10	1	3	2	2	1	2	1	4	4	3	3	1	2	4	2	1	2	4	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:47653537G>C	ENST00000413379.3	+	3	391	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	SAE1_ENST00000598840.1_Missense_Mutation_p.E97Q|SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000270225.7_Missense_Mutation_p.E97Q|SAE1_ENST00000392776.3_Missense_Mutation_p.E97Q	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	97					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		AGCCTCTTTGGAGCGAGCTCA	0.453													50	105					0	0	0	0	C	47653537	G	C	47653537	3	2	356	1	0	0	0	0	1	0	0	0	13890	1175	41	2	299	2	SAE1	19	47653537	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1259596	47653537	11475446	527	67241											
FCGRT	2217	broad.mit.edu	37	chr19	50029365	50029365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtaaatgtgattccaGccaccgcctgaccatccgcc	10	8	9	14	2	0	2	0	2	0	0	2	3	2	3	7	1	1	1	7	1	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:50029365G>A	ENST00000221466.5	+	7	1573	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T	FCGRT_ENST00000426395.3_Missense_Mutation_p.A363T|FCGRT_ENST00000599988.1_Missense_Mutation_p.A97T|FCGRT_ENST00000596975.1_Missense_Mutation_p.A271T	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	363					antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TGTGATTCCAGCCACCGCCTG	0.582													46	106					0	0	0	0	A	50029365	G	A	50029365	3	1	356	1	0	0	0	0	1	0	0	0	5831	971	34	4	1109	4	FCGRT	19	50029365	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2375828	50029365	9099618	528	67242											
PNKP	11284	broad.mit.edu	37	chr19	50364513	50364513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgggcggggctcagccctCggagaactggcagtacagcc	7	5	16	13	2	1	1	1	0	0	1	2	2	1	1	2	5	4	4	2	5	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:50364513C>T	ENST00000322344.3	-	17	1667	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	PNKP_ENST00000600573.1_Missense_Mutation_p.E489K|PNKP_ENST00000600910.1_3'UTR|PNKP_ENST00000596014.1_Missense_Mutation_p.E520K	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	520					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCTCAGCCCTCGGAGAACTGG	0.652								Other BER factors					47	97					0	0	0	0	T	50364513	C	T	50364513	3	4	356	1	0	0	0	0	1	0	0	0	12219	893	31	1	11	1	PNKP	19	50364513	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	335148	50364513	8764470	529	67243											
SHANK1	50944	broad.mit.edu	37	chr19	51165434	51165434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagaaccccagaggtttagCgccaaacggcttgtccgggg	9	6	13	13	3	0	2	0	0	0	2	1	2	1	2	5	4	3	2	5	4	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:51165434C>T	ENST00000293441.1	-	23	6292	c.6274G>A	c.(6274-6276)Gct>Act	p.A2092T	SHANK1_ENST00000359082.3_Missense_Mutation_p.A2083T|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.A2100T|SHANK1_ENST00000391813.1_Missense_Mutation_p.A1479T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2092					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGAGGTTTAGCGCCAAACGGC	0.672													21	56					0	0	0	0	T	51165434	C	T	51165434	3	4	356	1	0	0	0	0	1	0	0	0	14352	768	27	1	215	1	SHANK1	19	51165434	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	800921	51165434	7963549	530	67244											
SIGLEC9	27180	broad.mit.edu	37	chr19	51629383	51629383	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttccaaggagacggcaCaggtaggatggagctccctc	9	8	13	11	1	1	1	0	0	1	1	4	4	3	3	2	5	1	3	2	5	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:51629383C>G	ENST00000440804.3	+	3	813	c.746C>G	c.(745-747)aCa>aGa	p.T249R	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.T249R	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	249	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGAGACGGCACAGGTAGGATG	0.597													14	81					0	0	0	0	G	51629383	C	G	51629383	3	3	356	1	0	0	0	0	1	0	0	0	14403	478	17	4	756	4	SIGLEC9	19	51629383	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	463949	51629383	7499600	531	67245											
ZNF701	55762	broad.mit.edu	37	chr19	53077370	53077370	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtacgtgaggaaaaaacacgGaagaggaagaggaaagcaaa	21	2	14	4	2	0	3	0	1	0	2	0	7	0	7	0	4	3	2	0	4	8	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:53077370G>T	ENST00000540331.1	+	3	393	c.168G>T	c.(166-168)cgG>cgT	p.R56R	ZNF701_ENST00000391785.3_5'UTR|ZNF701_ENST00000301093.2_Silent_p.R56R|ZNF701_ENST00000478039.1_3'UTR	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	211	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AAAAAACACGGAAGAGGAAGA	0.433													21	58					0.000229342	0.000234302	1	0	T	53077370	G	T	53077370	2	4	356	1	0	0	0	0	0	0	0	1	18200	1161	41	2		2	ZNF701	19	53077370	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1447987	53077370	6051613	532	67246											
ZNF845	91664	broad.mit.edu	37	chr19	53854694	53854694	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggtctttaatcaaaagCgatatcttgcatgtcatcgt	12	13	8	8	2	4	0	2	0	2	0	5	1	4	0	0	1	2	2	0	1	5	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:53854694C>T	ENST00000458035.1	+	4	883	c.766C>T	c.(766-768)Cga>Tga	p.R256*	ZNF845_ENST00000595091.1_Nonsense_Mutation_p.R256*	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATCAAAAGCGATATCTTGC	0.388													15	49					0	0	0	0	T	53854694	C	T	53854694	4	4	356	1	0	0	0	0	0	1	0	0	18284	760	27	1	776	1	ZNF845	19	53854694	Nonsense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	777324	53854694	5274289	533	67247											
TFPT	29844	broad.mit.edu	37	chr19	54611507	54611507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctggaggctcattctcCgcattgcctggggtgggggc	3	12	15	11	1	3	0	1	0	2	0	5	1	3	1	2	6	1	2	2	6	0	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:54611507C>T	ENST00000391757.1	-	5	449	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	TFPT_ENST00000391759.1_Silent_p.A156A|NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391758.1_Silent_p.A147A			P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	144					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	p.A156A(1)		large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					GCTCATTCTCCGCATTGCCTG	0.682			T	TCF3	pre-B ALL								5	14					0	0	0	0	T	54611507	C	T	54611507	3	4	356	1	0	0	0	0	1	0	0	0	15904	639	23	1	301	1	TFPT	19	54611507	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	756813	54611507	4517476	534	67248											
ZNF628	89887	broad.mit.edu	37	chr19	55994845	55994845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcaaggcagggcccgcGggcagtggggaaagcgggcc	7	2	20	12	4	0	0	0	0	0	0	0	1	0	1	3	6	2	3	3	6	2	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:55994845G>A	ENST00000598519.1	+	3	2838	c.2285G>A	c.(2284-2286)cGg>cAg	p.R762Q	ZNF628_ENST00000391718.2_Missense_Mutation_p.R758Q	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	758	Gly-rich.					nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CAGGGCCCGCGGGCAGTGGGG	0.756													3	6					0	0	0	0	A	55994845	G	A	55994845	3	1	356	1	0	0	0	0	1	0	0	0	18147	1116	39	1	2275	1	ZNF628	19	55994845	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1383338	55994845	3134138	535	67249											
ZNF772	400720	broad.mit.edu	37	chr19	57985623	57985623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgccctgggtgtgtttcCtggtgctcagccaagtgcaa	5	13	12	11	0	2	0	1	0	1	0	3	0	3	0	3	2	4	3	3	2	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:57985623C>A	ENST00000343280.4	-	5	749	c.489G>T	c.(487-489)caG>caT	p.Q163H	AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.Q122H|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.Q51H|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000600175.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		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;0.026)|Lung(386;0.174)		GGTGTGTTTCCTGGTGCTCAG	0.517													24	63					4.87955e-14	5.58964e-14	1	0	A	57985623	C	A	57985623	3	1	356	1	0	0	0	0	1	0	0	0	18238	680	24	4	984	4	ZNF772	19	57985623	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1990778	57985623	1143360	536	67250											
MZF1	7593	broad.mit.edu	37	chr19	59073882	59073882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgcccgtgtgtacgcggaGatgctgcgtgagcgtaggcc	5	8	16	12	6	0	2	0	1	0	1	1	3	0	2	2	2	4	3	2	2	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:59073882G>A	ENST00000215057.2	-	6	2322	c.1762C>T	c.(1762-1764)Ctc>Ttc	p.L588F	AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_3'UTR|MZF1_ENST00000599369.1_Missense_Mutation_p.L588F|AC016629.8_ENST00000593642.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	588					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TGTACGCGGAGATGCTGCGTG	0.682													9	18					0	0	0	0	A	59073882	G	A	59073882	3	1	356	1	0	0	0	0	1	0	0	0	10178	942	33	2	446	2	MZF1	19	59073882	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1088259	59073882	55101	537	67251											
SPTLC3	55304	broad.mit.edu	37	chr20	13098248	13098248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaagctcacagtattggggCcgtgggcccaaccggccggg	7	6	16	12	3	1	1	1	1	0	0	1	1	1	1	4	5	2	2	4	5	3	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:13098248C>T	ENST00000399002.2	+	8	1302	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	343					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGTATTGGGGCCGTGGGCCCA	0.502													59	109					0	0	0	0	T	13098248	C	T	13098248	3	4	356	1	0	0	0	0	1	0	0	0	15215	739	26	4	1058	4	SPTLC3	20	13098248	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08		13098248	49927272	538	67252											
GZF1	64412	broad.mit.edu	37	chr20	23345441	23345441	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcagtacttttggagttgCaaaatttctcagagtctcag	11	14	9	7	0	3	1	3	0	2	1	5	2	3	2	0	1	2	3	0	1	3	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:23345441C>T	ENST00000338121.5	+	2	498	c.421C>T	c.(421-423)Caa>Taa	p.Q141*	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Nonsense_Mutation_p.Q141*			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	141					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TTTGGAGTTGCAAAATTTCTC	0.483													5	97					0	0	0	0	T	23345441	C	T	23345441	4	4	356	1	0	0	0	0	0	1	0	0	6964	711	25	4	423	4	GZF1	20	23345441	Nonsense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	10247193	23345441	39680079	539	67253											
CBFA2T2	9139	broad.mit.edu	37	chr20	32207330	32207330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatcttttcagaactcaaCagtgacaattgaggaattcc	13	14	6	8	0	3	3	2	2	1	1	4	4	4	4	1	1	2	0	1	1	5	6			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:32207330C>T	ENST00000346541.3	+	5	992	c.455C>T	c.(454-456)aCa>aTa	p.T152I	CBFA2T2_ENST00000375279.2_Missense_Mutation_p.T152I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.T162I|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.T123I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.T123I|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.T123I|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.T143I	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	152	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CAGAACTCAACAGTGACAATT	0.333													17	41					0	0	0	0	T	32207330	C	T	32207330	3	4	356	1	0	0	0	0	1	0	0	0	2722	478	17	4	507	4	CBFA2T2	20	32207330	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	8861889	32207330	30818190	540	67254											
CBFA2T2	9139	broad.mit.edu	37	chr20	32212724	32212724	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctacccctccacctcttCagcattacaccttagaggat	10	11	4	16	0	2	1	1	0	1	1	4	2	4	2	6	1	3	1	6	1	3	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:32212724C>T	ENST00000346541.3	+	7	1411	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.Q292*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.Q302*|CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.Q263*|CBFA2T2_ENST00000342704.5_Nonsense_Mutation_p.Q283*	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	292						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCCACCTCTTCAGCATTACAC	0.527													25	40					0	0	0	0	T	32212724	C	T	32212724	4	4	356	1	0	0	0	0	0	1	0	0	2722	827	29	2	934	2	CBFA2T2	20	32212724	Nonsense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	5394	32212724	30812796	541	67255											
MYH7B	57644	broad.mit.edu	37	chr20	33568398	33568398	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagacctactcaggcctcttCtgtgtcaccatcaaccccta	9	10	5	17	0	5	1	3	0	2	1	5	1	5	1	5	1	2	0	5	1	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:33568398C>G	ENST00000262873.7	+	6	578	c.486C>G	c.(484-486)ttC>ttG	p.F162L	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	120	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGGCCTCTTCTGTGTCACCA	0.517													100	197					0	0	0	0	G	33568398	C	G	33568398	3	3	356	1	0	0	0	0	1	0	0	0	10110	912	32	2	508	2	MYH7B	20	33568398	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1355674	33568398	29457122	542	67256											
MYL9	10398	broad.mit.edu	37	chr20	35176500	35176500	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggggcccatcaacttcAccatgttcctcaccatgttt	7	11	6	17	1	3	0	3	0	0	0	4	0	4	0	6	2	1	2	6	2	1	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:35176500A>G	ENST00000279022.2	+	3	354	c.250A>G	c.(250-252)Acc>Gcc	p.T84A	RP5-977B1.7_ENST00000439595.1_RNA|MYL9_ENST00000346786.2_Intron|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	84					axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CATCAACTTCACCATGTTCCT	0.607													18	36					0	0	0	0	G	35176500	A	G	35176500	3	3	356	1	0	0	0	0	1	0	0	0	10124	159	6	5	256	5	MYL9	20	35176500	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	1608102	35176500	27849020	543	67257											
EMILIN3	90187	broad.mit.edu	37	chr20	39990829	39990829	+	Frame_Shift_Del	DEL	C	C	-																															ccaaagccgcccactccccaCccccccatgtccaacctcag																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:39990829delC	ENST00000332312.3	-	4	1572	c.1380delG	c.(1378-1380)ggfs	p.G460fs		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	460						proteinaceous extracellular matrix		p.W461fs*31(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCACTCCCCACCCCCCCATGT	0.637													7	202	---	---	---	---					-	39990829	C	-	39990829	7	5	356	1	0	1	0	1	0	0	0	0	5133	494	18	0	924	0	EMILIN3	20	39990829	Frame_Shift_Del	DEL	C	TCGA-CV-A6K1-01A-11D-A31L-08	4814329	39990829	23034691	544	67258											
ACOT8	10005	broad.mit.edu	37	chr20	44472344	44472344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggccacgcagcagtgcatCttcatgtcgccctcgcctgc	5	8	11	17	4	2	0	1	0	1	0	4	0	2	0	3	1	3	3	3	1	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:44472344C>G	ENST00000217455.4	-	5	753	c.663G>C	c.(661-663)aaG>aaC	p.K221N		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	221					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				AGCAGTGCATCTTCATGTCGC	0.612													29	57					0	0	0	0	G	44472344	C	G	44472344	3	3	356	1	0	0	0	0	1	0	0	0	156	912	32	2	304	2	ACOT8	20	44472344	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	4481515	44472344	18553176	545	67259											
GNAS	2778	broad.mit.edu	37	chr20	57429690	57429690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgatcccgactccggggCggcccctgacgccccagccg	5	3	13	20	6	0	1	0	1	0	0	2	3	2	1	8	3	2	0	8	3	0	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:57429690C>A	ENST00000371100.4	+	1	1922	c.1370C>A	c.(1369-1371)gCg>gAg	p.A457E	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.A457E|GNAS_ENST00000371102.4_Missense_Mutation_p.A457E|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.R394R	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GACTCCGGGGCGGCCCCTGAC	0.781			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			3	2					0.115264	0.11602	1	0	A	57429690	C	A	57429690	3	1	356	1	0	0	0	0	1	0	0	0	6561	768	27	3	2114	3	GNAS	20	57429690	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	12957346	57429690	5595830	546	67260											
CDH4	1002	broad.mit.edu	37	chr20	60511926	60511926	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagttccggggaccaagaCtacgattacctcaacgactg	11	8	9	13	3	1	1	1	0	0	1	3	4	3	2	4	2	3	1	4	2	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:60511926C>A	ENST00000360469.5	+	16	2764	c.2676C>A	c.(2674-2676)gaC>gaA	p.D892E	CDH4_ENST00000543233.1_Missense_Mutation_p.D818E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	892					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGACCAAGACTACGATTACC	0.592													16	46					1.37285e-15	1.59344e-15	1	0	A	60511926	C	A	60511926	3	1	356	1	0	0	0	0	1	0	0	0	3141	564	20	4	2738	4	CDH4	20	60511926	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3082236	60511926	2513594	547	67261											
LAMA5	3911	broad.mit.edu	37	chr20	60909061	60909061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacgagccagaaaaggtcaGgggaggtcaggttcagcctg	12	5	16	8	1	3	2	3	0	0	2	3	4	3	3	2	5	2	1	2	5	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:60909061G>T	ENST00000252999.3	-	23	2840	c.2774C>A	c.(2773-2775)cCt>cAt	p.P925H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	925	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAAAGGTCAGGGGAGGTCAG	0.667													10	23					0.000151284	0.000155332	1	0	T	60909061	G	T	60909061	3	4	356	1	0	0	0	0	1	0	0	0	8662	1000	35	4	8545	4	LAMA5	20	60909061	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	397135	60909061	2116459	548	67262											
RTEL1	51750	broad.mit.edu	37	chr20	62297385	62297385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggagcaggagctggccagCcccatcctggacattgagga	9	6	14	12	0	0	1	0	1	0	0	1	5	1	5	4	5	3	2	4	5	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:62297385C>A	ENST00000318100.4	+	7	1394	c.567C>A	c.(565-567)agC>agA	p.S189R	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S189R|RTEL1_ENST00000370018.3_Missense_Mutation_p.S189R|RTEL1_ENST00000360203.5_Missense_Mutation_p.S189R|RTEL1_ENST00000508582.2_Missense_Mutation_p.S213R			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	189	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGCTGGCCAGCCCCATCCTGG	0.602													12	38					0.00010058	0.000103618	1	0	A	62297385	C	A	62297385	3	1	356	1	0	0	0	0	1	0	0	0	13805	738	26	4	589	4	RTEL1	20	62297385	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1388324	62297385	728135	549	67263											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666658	19666658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgcagagcagtcggccGccataatacagacccacaac	12	3	10	16	4	0	2	0	0	0	2	1	2	0	2	4	1	3	2	4	1	3	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:19666658G>A	ENST00000284885.3	-	21	2448	c.2415C>T	c.(2413-2415)ggC>ggT	p.G805G		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	805	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCAGTCGGCCGCCATAATACA	0.562													49	99					0	0	0	0	A	19666658	G	A	19666658	2	1	356	1	0	0	0	0	0	0	0	1	16340	1074	38	1		1	TMPRSS15	21	19666658	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08		19666658	28463237	550	67264											
KRTAP6-2	337967	broad.mit.edu	37	chr21	31971008	31971008	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctcccacggtgtcctcaAtagtagtagccagagccgca	10	8	10	13	2	2	1	1	0	1	1	4	1	3	1	4	1	2	3	4	1	4	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:31971008A>G	ENST00000334897.3	-	1	211	c.186T>C	c.(184-186)taT>taC	p.Y62Y		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	62						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GGTGTCCTCAATAGTAGTAGC	0.552													19	38					0	0	0	0	G	31971008	A	G	31971008	2	3	356	1	0	0	0	0	0	0	0	1	8623	108	4	5		5	KRTAP6-2	21	31971008	Silent	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	12304350	31971008	16158887	551	67265											
BRWD1	54014	broad.mit.edu	37	chr21	40649223	40649223	+	Frame_Shift_Del	DEL	A	A	-																															tttcgggtgcttcaaaacccAaaaaatacattctgattaca																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:40649223delA	ENST00000342449.3	-	11	1136	c.1058delT	c.(1057-1059)tgfs	p.L353fs	BRWD1_ENST00000380800.3_Frame_Shift_Del_p.L353fs|BRWD1_ENST00000333229.2_Frame_Shift_Del_p.L353fs	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCAAAACCCAAAAAATACAT	0.323													8	42	---	---	---	---					-	40649223	A	-	40649223	7	5	356	1	0	1	0	1	0	0	0	0	1533	131	5	0	6271	0	BRWD1	21	40649223	Frame_Shift_Del	DEL	A	TCGA-CV-A6K1-01A-11D-A31L-08	8678215	40649223	7480672	552	67266											
MX2	4600	broad.mit.edu	37	chr21	42767544	42767544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaccagatctaatggacaGgggcactgagaaaagcgtca	16	5	11	9	1	2	2	1	1	1	2	2	4	2	3	1	3	2	1	1	3	4	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:42767544G>T	ENST00000330714.3	+	7	1086	c.902G>T	c.(901-903)aGg>aTg	p.R301M	MX2_ENST00000543692.1_3'UTR|MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	301					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CTAATGGACAGGGGCACTGAG	0.507													16	43					7.07596e-05	7.33892e-05	1	0	T	42767544	G	T	42767544	3	4	356	1	0	0	0	0	1	0	0	0	10068	1000	35	4	924	4	MX2	21	42767544	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	2118321	42767544	5362351	553	67267											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057597	46057597	+	Frame_Shift_Del	DEL	C	C	-																															gccggattgctgcacctcctCcccctgccagcaggcctgct																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:46057597delC	ENST00000380095.1	+	1	325	c.263delC	c.(262-264)tcfs	p.S88fs	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	88	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGCACCTCCTCCCcctgccag	0.642													57	147	---	---	---	---					-	46057597	C	-	46057597	7	5	356	1	0	1	0	1	0	0	0	0	8558	855	30	0	265	0	KRTAP10-10	21	46057597	Frame_Shift_Del	DEL	C	TCGA-CV-A6K1-01A-11D-A31L-08	3290053	46057597	2072298	554	67268											
KRTAP12-2	353323	broad.mit.edu	37	chr21	46086604	46086604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagctgacttgaagctcatgGgcacacacacagaagactgg	13	6	11	11	0	1	4	1	2	0	2	1	4	1	4	0	2	2	3	0	2	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:46086604G>T	ENST00000360770.3	-	1	240	c.200C>A	c.(199-201)cCc>cAc	p.P67H	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	67	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						GAAGCTCATGGGCACACACAC	0.627													22	62					4.35082e-09	4.74494e-09	1	0	T	46086604	G	T	46086604	3	4	356	1	0	0	0	0	1	0	0	0	8571	1232	43	4	244	4	KRTAP12-2	21	46086604	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	29007	46086604	2043291	555	67269											
DGCR2	9993	broad.mit.edu	37	chr22	19036128	19036128	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaacccttcatccaccacGttgtccttgatgtcaacaca	11	11	5	14	1	2	2	2	1	0	1	4	2	4	2	4	0	2	1	4	0	3	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:19036128G>A	ENST00000263196.7	-	7	1078	c.831C>T	c.(829-831)aaC>aaT	p.N277N	DGCR2_ENST00000537045.1_Silent_p.N236N|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	277	VWFC.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CATCCACCACGTTGTCCTTGA	0.527													132	272					0	0	0	0	A	19036128	G	A	19036128	2	1	356	1	0	0	0	0	0	0	0	1	4498	1136	40	1		1	DGCR2	22	19036128	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08		19036128	32268438	556	67270											
SGSM1	129049	broad.mit.edu	37	chr22	25301151	25301151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgctggtcattctggatGatggtgagtgtgtctttact	6	16	12	7	0	3	2	1	2	2	0	3	3	3	3	0	3	2	1	0	3	1	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:25301151G>T	ENST00000400358.4	+	21	2872	c.2815G>T	c.(2815-2817)Gat>Tat	p.D939Y	SGSM1_ENST00000400359.4_Missense_Mutation_p.D994Y	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	994	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CATTCTGGATGATGGTGAGTG	0.512													50	137					4.78724e-31	5.98649e-31	1	0	T	25301151	G	T	25301151	3	4	356	1	0	0	0	0	1	0	0	0	14309	1290	45	2	3066	2	SGSM1	22	25301151	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	6265023	25301151	26003415	557	67271											
ZNRF3	84133	broad.mit.edu	37	chr22	29442737	29442737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctggctgtgcaggctctaGagaagatggaaaccagaaag	13	6	15	7	0	1	3	0	0	1	3	1	5	1	4	1	4	2	4	1	4	4	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:29442737G>C	ENST00000544604.2	+	6	953	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	ZNRF3_ENST00000402174.1_Missense_Mutation_p.E160Q|ZNRF3_ENST00000406323.3_Missense_Mutation_p.E160Q|ZNRF3_ENST00000332811.4_Missense_Mutation_p.E160Q	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	260						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCAGGCTCTAGAGAAGATGGA	0.577													66	131					0	0	0	0	C	29442737	G	C	29442737	3	2	356	1	0	0	0	0	1	0	0	0	18306	943	33	2	496	2	ZNRF3	22	29442737	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	4141586	29442737	21861829	558	67272											
RHBDD3	25807	broad.mit.edu	37	chr22	29656597	29656597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cataaggcggtccagggatgGgaggcctggaggagtgggaa	10	5	20	6	1	0	0	0	0	0	0	1	5	1	5	2	8	0	0	2	8	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:29656597G>A	ENST00000216085.7	-	6	1125	c.701C>T	c.(700-702)cCc>cTc	p.P234L		NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	234						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						TCCAGGGATGGGAGGCCTGGA	0.667													8	12					0	0	0	0	A	29656597	G	A	29656597	3	1	356	1	0	0	0	0	1	0	0	0	13401	1232	43	4	467	4	RHBDD3	22	29656597	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	213860	29656597	21647969	559	67273											
SEC14L3	266629	broad.mit.edu	37	chr22	30857392	30857392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgtcatctcccctgccCgctgtcgctcccccatcttg	3	12	6	20	2	4	0	1	0	3	0	7	0	5	0	5	0	1	2	5	0	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:30857392C>T	ENST00000403066.1	-	12	1092	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	SEC14L3_ENST00000415957.2_Missense_Mutation_p.R270Q|SEC14L3_ENST00000402286.1_Missense_Mutation_p.R252Q|SEC14L3_ENST00000540910.1_Missense_Mutation_p.R252Q|SEC14L3_ENST00000539629.1_Missense_Mutation_p.R270Q|SEC14L3_ENST00000215812.4_Missense_Mutation_p.R329Q|SEC14L3_ENST00000401751.1_Missense_Mutation_p.R270Q			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	329						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CTCCCCTGCCCGCTGTCGCTC	0.607													22	48					0	0	0	0	T	30857392	C	T	30857392	3	4	356	1	0	0	0	0	1	0	0	0	14070	652	23	1	224	1	SEC14L3	22	30857392	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	1200795	30857392	20447174	560	67274											
LIMK2	3985	broad.mit.edu	37	chr22	31673039	31673039	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaggagctgctggttgaCtgttacaaacccacagaggc	11	8	12	10	0	1	2	1	1	0	1	1	3	1	3	1	3	4	4	1	3	3	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:31673039C>T	ENST00000340552.4	+	15	2204	c.1974C>T	c.(1972-1974)gaC>gaT	p.D658D	LIMK2_ENST00000333611.4_Intron|LIMK2_ENST00000331728.4_Intron|LIMK2_ENST00000406516.1_Silent_p.D601D|LIMK2_ENST00000467301.1_Intron|LIMK2_ENST00000444929.2_Intron	NM_001031801.1	NP_001026971.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	0						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TGCTGGTTGACTGTTACAAAC	0.567													23	59					0	0	0	0	T	31673039	C	T	31673039	2	4	356	1	0	0	0	0	0	0	0	1	8856	564	20	4		4	LIMK2	22	31673039	Silent	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	815647	31673039	19631527	561	67275											
PVALB	5816	broad.mit.edu	37	chr22	37211254	37211254	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccgaccatttggaagaaCtttttgtggtcgaaggagtc	10	11	13	7	2	0	1	0	0	0	1	2	5	0	3	2	4	1	0	2	4	3	3			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:37211254C>G	ENST00000216200.5	-	3	142	c.87G>C	c.(85-87)aaG>aaC	p.K29N	PVALB_ENST00000417718.2_Missense_Mutation_p.K29N|PVALB_ENST00000404171.1_5'UTR	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	29							calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TTTGGAAGAACTTTTTGTGGT	0.517													13	59					0	0	0	0	G	37211254	C	G	37211254	3	3	356	1	0	0	0	0	1	0	0	0	12918	564	20	4	257	4	PVALB	22	37211254	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	5538215	37211254	14093312	562	67276											
TRMU	55687	broad.mit.edu	37	chr22	46749737	46749737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggtacgtggtggagaaGgacagcgtcaagggtgacgt	9	7	17	8	3	1	2	1	1	0	1	1	4	1	3	1	5	2	1	1	5	3	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:46749737G>T	ENST00000290846.4	+	8	1186	c.846G>T	c.(844-846)aaG>aaT	p.K282N	TRMU_ENST00000381019.3_Missense_Mutation_p.K282N	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	282						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TGGTGGAGAAGGACAGCGTCA	0.582													22	58					3.6726e-16	4.31162e-16	1	0	T	46749737	G	T	46749737	3	4	356	1	0	0	0	0	1	0	0	0	16666	991	35	4	876	4	TRMU	22	46749737	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	9538483	46749737	4554829	563	67277											
CELSR1	9620	broad.mit.edu	37	chr22	46760000	46760000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctcttgactgtgatggcGcagtcggggccgccagagcc	5	7	17	12	3	1	3	0	2	1	1	2	3	1	3	3	4	1	2	3	4	0	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:46760000G>A	ENST00000262738.3	-	34	8927	c.8928C>T	c.(8926-8928)tgC>tgT	p.C2976C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2976					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGTGATGGCGCAGTCGGGGC	0.697													18	53					0	0	0	0	A	46760000	G	A	46760000	2	1	356	1	0	0	0	0	0	0	0	1	3250	1079	38	1		1	CELSR1	22	46760000	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	10263	46760000	4544566	564	67278											
CPT1B	1375	broad.mit.edu	37	chr22	51011396	51011396	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagtaggattcctcatccagGgccacgaagaaagcggcacg	12	5	13	11	3	1	1	1	0	0	1	3	4	3	2	3	3	1	2	3	3	3	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:51011396G>T	ENST00000360719.2	-	11	1397	c.1260C>A	c.(1258-1260)gcC>gcA	p.A420A	CPT1B_ENST00000405237.3_Silent_p.A420A|CPT1B_ENST00000395650.2_Silent_p.A420A|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000434492.2_Silent_p.A217A|CPT1B_ENST00000312108.7_Silent_p.A420A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Silent_p.A386A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	420					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCTCATCCAGGGCCACGAAGA	0.587													59	130					2.22609e-26	2.75013e-26	1	0	T	51011396	G	T	51011396	2	4	356	1	0	0	0	0	0	0	0	1	3862	1219	43	4		4	CPT1B	22	51011396	Silent	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	4251396	51011396	293170	565	67279											
PPP2R3B	28227	broad.mit.edu	37	chrX	302052	302052	+	Frame_Shift_Del	DEL	T	T	-																															aggaacccacctggtcggtgTttttttgtcttcctcagaga																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:302052delT	ENST00000390665.3	-	9	1183	c.1165delA	c.(1165-1167)cafs	p.T389fs		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	389	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGGTCGGTGTTTTTTTGTCT	0.567													7	612	---	---	---	---					-	302052	T	-	302052	7	5	356	1	0	1	0	1	0	0	0	0	12465	1725	60	0	582	0	PPP2R3B	23	302052	Frame_Shift_Del	DEL	T	TCGA-CV-A6K1-01A-11D-A31L-08		302052	154968508	566	67280											
MAGED1	9500	broad.mit.edu	37	chrX	51637752	51637752	+	Frame_Shift_Del	DEL	C	C	-																															gcttgtagagcagtctgtcaCcccctcccccagcctcctgc																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:51637752delC	ENST00000375695.2	+	3	228	c.75delC	c.(73-75)cafs	p.H25fs	MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000375722.1_Intron|MAGED1_ENST00000494718.1_Intron	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	0					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CAGTCTGTCACCCCCTCCCCC	0.562										Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	11	---	---	---	---					-	51637752	C	-	51637752	7	5	356	1	0	1	0	1	0	0	0	0	9252	506	18	0	81	0	MAGED1	23	51637752	Frame_Shift_Del	DEL	C	TCGA-CV-A6K1-01A-11D-A31L-08	51335700	51637752	103632808	567	67281											
MAGED2	10916	broad.mit.edu	37	chrX	54841145	54841145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccccctgaatatgagttCttctggggcctgcgctctta	7	13	9	12	1	3	2	0	2	3	0	4	2	4	2	3	2	1	2	3	2	4	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:54841145C>A	ENST00000375068.1	+	11	1556	c.1323C>A	c.(1321-1323)ttC>ttA	p.F441L	MAGED2_ENST00000218439.4_Missense_Mutation_p.F441L|MAGED2_ENST00000343474.6_Missense_Mutation_p.F423L|MAGED2_ENST00000375062.4_Missense_Mutation_p.F356L|MAGED2_ENST00000396224.1_Missense_Mutation_p.F441L|MAGED2_ENST00000375053.2_Missense_Mutation_p.F441L|MAGED2_ENST00000375060.1_Missense_Mutation_p.F356L|MAGED2_ENST00000375058.1_Missense_Mutation_p.F441L|MAGED2_ENST00000347546.3_Missense_Mutation_p.F385L			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	441	MAGE.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						AATATGAGTTCTTCTGGGGCC	0.478													21	14					9.95505e-16	1.16205e-15	1	0	A	54841145	C	A	54841145	3	1	356	1	0	0	0	0	1	0	0	0	9253	912	32	2	1361	2	MAGED2	23	54841145	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	3203393	54841145	100429415	568	67282											
TRO	7216	broad.mit.edu	37	chrX	54955078	54955078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgggctgtgcagtaccgcGaggcagtggagatggaagtc	9	7	17	8	2	0	1	0	0	0	1	1	4	0	2	1	4	2	4	1	4	2	1			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:54955078G>A	ENST00000173898.7	+	12	2033	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	TRO_ENST00000375022.4_Missense_Mutation_p.E641K|TRO_ENST00000399736.1_Missense_Mutation_p.E244K|TRO_ENST00000375041.2_Missense_Mutation_p.E244K|TRO_ENST00000420798.2_Missense_Mutation_p.E172K|TRO_ENST00000319167.8_Missense_Mutation_p.E641K	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	641	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCAGTACCGCGAGGCAGTGGA	0.512													20	17					0	0	0	0	A	54955078	G	A	54955078	3	1	356	1	0	0	0	0	1	0	0	0	16669	1059	37	1	1963	1	TRO	23	54955078	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	113933	54955078	100315482	569	67283											
HEPH	9843	broad.mit.edu	37	chrX	65480037	65480037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccctgggacatggctgatGcactgccatgtgactgacca	10	8	11	12	0	0	3	0	3	0	0	0	4	0	4	3	2	3	2	3	2	1	0			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:65480037G>A	ENST00000519389.1	+	19	3473	c.3294G>A	c.(3292-3294)atG>atA	p.M1098I	HEPH_ENST00000336279.5_Missense_Mutation_p.M777I|HEPH_ENST00000419594.1_Missense_Mutation_p.M855I|HEPH_ENST00000374727.3_Missense_Mutation_p.M1047I|HEPH_ENST00000441993.2_Missense_Mutation_p.M1047I|HEPH_ENST00000343002.2_Missense_Mutation_p.M1044I			Q9BQS7	HEPH_HUMAN	hephaestin	1044					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATGGCTGATGCACTGCCATG	0.517													19	15					0	0	0	0	A	65480037	G	A	65480037	3	1	356	1	0	0	0	0	1	0	0	0	7104	1319	46	4	3368	4	HEPH	23	65480037	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	10524959	65480037	89790523	570	67284											
LPAR4	2846	broad.mit.edu	37	chrX	78011321	78011321	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcacccttgaatcctttCagaagtccttctacatcaat	11	14	3	13	0	4	2	3	1	1	1	6	2	6	2	3	0	1	0	3	0	4	5			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:78011321C>T	ENST00000435339.2	+	2	1360	c.955C>T	c.(955-957)Cag>Tag	p.Q319*	LPAR4_ENST00000373301.2_Nonsense_Mutation_p.Q319*	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	319						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGAATCCTTTCAGAAGTCCTT	0.428													45	24					0	0	0	0	T	78011321	C	T	78011321	4	4	356	1	0	0	0	0	0	1	0	0	8971	827	29	2	957	2	LPAR4	23	78011321	Nonsense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	12531284	78011321	77259239	571	67285											
XKRX	402415	broad.mit.edu	37	chrX	100183210	100183210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatggaaaagtaaatcggggGttggctccacggatgacatc	13	8	13	7	2	0	1	0	1	0	0	3	3	1	3	1	5	0	3	1	5	5	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:100183210G>T	ENST00000328526.5	-	1	688	c.123C>A	c.(121-123)aaC>aaA	p.N41K	XKRX_ENST00000372956.2_Missense_Mutation_p.N28K|XKRX_ENST00000468904.1_Missense_Mutation_p.N28K	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	28						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TAAATCGGGGGTTGGCTCCAC	0.443													4	121					0.150653	0.150899	1	0	T	100183210	G	T	100183210	3	4	356	1	0	0	0	0	1	0	0	0	17535	1252	44	4	1277	4	XKRX	23	100183210	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	22171889	100183210	55087350	572	67286											
TAF7L	54457	broad.mit.edu	37	chrX	100538467	100538467	+	Frame_Shift_Del	DEL	T	T	-																															gtctgctgttttataaaaggTttttttatcaagcgttctca																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:100538467delT	ENST00000372907.3	-	4	519	c.508delA	c.(508-510)ccfs	p.T170fs	TAF7L_ENST00000356784.1_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000324762.6_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000372905.2_Frame_Shift_Del_p.T84fs	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	170					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTATAAAAGGTTTTTTTATCA	0.393													96	48	---	---	---	---					-	100538467	T	-	100538467	7	5	356	1	0	1	0	1	0	0	0	0	15624	1725	60	0	920	0	TAF7L	23	100538467	Frame_Shift_Del	DEL	T	TCGA-CV-A6K1-01A-11D-A31L-08	355257	100538467	54732093	573	67287											
NXF3	56000	broad.mit.edu	37	chrX	102337234	102337234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacactgggcttctgtccGcacacttctctcctggctct	4	13	8	16	1	3	0	0	0	3	0	6	0	5	0	2	2	1	4	2	2	0	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:102337234G>A	ENST00000395065.3	-	9	940	c.839C>T	c.(838-840)gCg>gTg	p.A280V	NXF3_ENST00000425463.2_Missense_Mutation_p.A191V|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	280						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GCTTCTGTCCGCACACTTCTC	0.522													4	114					0	0	0	0	A	102337234	G	A	102337234	3	1	356	1	0	0	0	0	1	0	0	0	10856	1087	38	1	800	1	NXF3	23	102337234	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	1798767	102337234	52933326	574	67288											
RNF128	79589	broad.mit.edu	37	chrX	105937256	105937256	+	Frame_Shift_Del	DEL	T	T	-																															aaccaggagaataggtccagTtttttttggctccttgtaat																										TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:105937256delT	ENST00000324342.3	+	1	189	c.24delT	c.(22-24)agfs	p.S8fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATAGGTCCAGTTTTTTTTGGC	0.343													14	7	---	---	---	---					-	105937256	T	-	105937256	7	5	356	1	0	1	0	1	0	0	0	0	13521	1722	60	0	26	0	RNF128	23	105937256	Frame_Shift_Del	DEL	T	TCGA-CV-A6K1-01A-11D-A31L-08	3600022	105937256	49333304	575	67289											
DCX	1641	broad.mit.edu	37	chrX	110644382	110644382	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgcggatgatggtaaccaGcttggggcgcacaaagtcct	10	8	13	10	2	0	1	0	1	0	0	1	2	1	2	2	4	3	3	2	4	2	2			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:110644382G>C	ENST00000338081.3	-	3	955	c.784C>G	c.(784-786)Ctg>Gtg	p.L262V	DCX_ENST00000488120.1_Missense_Mutation_p.L181V|DCX_ENST00000356220.3_Missense_Mutation_p.L181V|DCX_ENST00000371993.2_Missense_Mutation_p.L181V|DCX_ENST00000356915.2_Missense_Mutation_p.L181V|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	262	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ATGGTAACCAGCTTGGGGCGC	0.527													25	10					0	0	0	0	C	110644382	G	C	110644382	3	2	356	1	0	0	0	0	1	0	0	0	4350	962	34	4	576	4	DCX	23	110644382	Missense_Mutation	SNP	G	TCGA-CV-A6K1-01A-11D-A31L-08	4707126	110644382	44626178	576	67290											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298689	125298689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttgagccagcctctgcCgcaggcaagcttgagcttcc	6	10	12	13	1	1	2	0	2	1	0	2	2	2	2	4	2	5	5	4	2	1	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:125298689C>T	ENST00000538699.1	-	2	1299	c.1219G>A	c.(1219-1221)Ggc>Agc	p.G407S	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G407S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	407										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CAGCCTCTGCCGCAGGCAAGC	0.607													58	39					0	0	0	0	T	125298689	C	T	125298689	3	4	356	1	0	0	0	0	1	0	0	0	4298	652	23	1	176	1	DCAF12L2	23	125298689	Missense_Mutation	SNP	C	TCGA-CV-A6K1-01A-11D-A31L-08	14654307	125298689	29971871	577	67291											
HCFC1	3054	broad.mit.edu	37	chrX	153216400	153216400	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataggctgtgcctggctgcAgctcctgcttcttcagctgg	4	13	12	12	0	2	0	1	0	1	0	3	0	3	0	2	3	5	6	2	3	2	4			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:153216400A>G	ENST00000310441.7	-	23	6533	c.5567T>C	c.(5566-5568)cTg>cCg	p.L1856P	HCFC1_ENST00000369984.4_Missense_Mutation_p.L1901P|HCFC1_ENST00000354233.3_Missense_Mutation_p.L1787P	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1856					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGGCTGCAGCTCCTGCTT	0.562													128	72					0	0	0	0	G	153216400	A	G	153216400	3	3	356	1	0	0	0	0	1	0	0	0	7041	188	7	5	556	5	HCFC1	23	153216400	Missense_Mutation	SNP	A	TCGA-CV-A6K1-01A-11D-A31L-08	27917711	153216400	2054160	578	67292											
NOC2L	26155	broad.mit.edu	37	chr1	892378	892378	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtccccatcttctccttcctCcgctccatcctcctcctcac	3	13	2	23	1	3	0	1	0	2	0	11	0	10	0	9	0	0	1	9	0	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:892378C>G	ENST00000327044.6	-	4	431	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	128						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCTCCTTCCTCCGCTCCATCC	0.582													31	131					0	0	0	0	G	892378	C	G	892378	3	3	357	1	0	0	0	0	1	0	0	0	10583	864	30	2	1931	2	NOC2L	1	892378	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08		892378	248358243	1	67293											
SCNN1D	6339	broad.mit.edu	37	chr1	1226975	1226975	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgggccccagccccttgaGactctggacacctgaaccag	8	6	11	16	0	1	2	0	2	1	1	1	4	1	3	6	2	2	1	6	2	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:1226975G>C	ENST00000338555.2	+	15	3046	c.1902G>C	c.(1900-1902)gaG>gaC	p.E634D	SCNN1D_ENST00000400928.3_Missense_Mutation_p.E634D|SCNN1D_ENST00000379116.5_Missense_Mutation_p.E798D|SCNN1D_ENST00000325425.8_Missense_Mutation_p.E700D					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		AGCCCCTTGAGACTCTGGACA	0.682													12	54					0	0	0	0	C	1226975	G	C	1226975	3	2	357	1	0	0	0	0	1	0	0	0	14016	933	33	2	2158	2	SCNN1D	1	1226975	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	334597	1226975	248023646	2	67294											
ACAP3	116983	broad.mit.edu	37	chr1	1233785	1233785	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagaccagctggctgttctGaatggagaaccagcgcctag	10	8	13	10	1	1	3	0	1	1	2	1	4	1	3	3	2	3	4	3	2	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:1233785G>A	ENST00000354700.5	-	12	1082	c.880C>T	c.(880-882)Cag>Tag	p.Q294*	ACAP3_ENST00000353662.3_Nonsense_Mutation_p.Q252*	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	294	PH.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						TGGCTGTTCTGAATGGAGAAC	0.687													14	78					0	0	0	0	A	1233785	G	A	1233785	4	1	357	1	0	0	0	0	0	1	0	0	120	1299	45	2	1676	2	ACAP3	1	1233785	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6810	1233785	248016836	3	67295											
PRDM16	63976	broad.mit.edu	37	chr1	3328667	3328667	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggacagcgaccctgacaagGacaagggcaagggcaagtcc	13	3	14	11	1	0	1	0	1	0	0	1	4	1	3	2	4	1	2	2	4	4	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:3328667G>C	ENST00000378398.3	+	10	1991	c.1909G>C	c.(1909-1911)Gac>Cac	p.D637H	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.D637H|PRDM16_ENST00000378391.2_Missense_Mutation_p.D636H|PRDM16_ENST00000442529.2_Missense_Mutation_p.D636H|PRDM16_ENST00000441472.2_Missense_Mutation_p.D636H|PRDM16_ENST00000270722.5_Missense_Mutation_p.D636H|PRDM16_ENST00000511072.1_Missense_Mutation_p.D637H			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	636					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCTGACAAGGACAAGGGCAA	0.682			T	EVI1	"MDS, AML"								16	132					0	0	0	0	C	3328667	G	C	3328667	3	2	357	1	0	0	0	0	1	0	0	0	12537	1174	41	2	1940	2	PRDM16	1	3328667	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2094882	3328667	245921954	4	67296											
AJAP1	55966	broad.mit.edu	37	chr1	4834545	4834545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtgtctgagaaatggtttGaaatctcctgctgactggcc	8	13	11	9	1	2	3	0	3	2	1	4	4	2	3	2	2	1	2	2	2	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:4834545G>A	ENST00000378191.4	+	5	1603	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	AJAP1_ENST00000378190.3_Missense_Mutation_p.E408K	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	408	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GAAATGGTTTGAAATCTCCTG	0.522													19	76					0	0	0	0	A	4834545	G	A	4834545	3	1	357	1	0	0	0	0	1	0	0	0	438	1291	45	2	1240	2	AJAP1	1	4834545	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1505878	4834545	244416076	5	67297											
DNAJC11	55735	broad.mit.edu	37	chr1	6697276	6697276	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accttggaggcctccgtgagGatgagcttcgagtccttcac	7	10	12	12	2	1	2	1	2	0	0	4	5	3	4	4	3	1	1	4	3	0	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:6697276G>A	ENST00000377577.5	-	14	1629	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	DNAJC11_ENST00000542246.1_Silent_p.I464I|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Silent_p.I450I|DNAJC11_ENST00000377573.5_Silent_p.I412I|DNAJC11_ENST00000465508.1_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	502					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCGTGAGGATGAGCTTCG	0.552													13	72					0	0	0	0	A	6697276	G	A	6697276	2	1	357	1	0	0	0	0	0	0	0	1	4666	1164	41	2		2	DNAJC11	1	6697276	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1862731	6697276	242553345	6	67298											
CAMTA1	23261	broad.mit.edu	37	chr1	7797326	7797326	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctagatgtgggcgtgTgccctagggcacttggaagc	6	11	15	9	1	2	1	0	0	2	1	2	2	2	2	1	3	2	1	1	3	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:7797326T>C	ENST00000303635.7	+	15	3561	c.3354T>C	c.(3352-3354)tgT>tgC	p.C1118C	CAMTA1_ENST00000439411.2_Silent_p.C1118C	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGTGGGCGTGTGCCCTAGGGC	0.552			T	WWTR1	epitheliod hemangioendothelioma								29	122					0	0	0	0	C	7797326	T	C	7797326	2	2	357	1	0	0	0	0	0	0	0	1	2638	1702	59	5		5	CAMTA1	1	7797326	Silent	SNP	T	TCGA-CV-A6K2-01A-11D-A31L-08	1100050	7797326	241453295	7	67299											
PARK7	11315	broad.mit.edu	37	chr1	8025464	8025464	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcatttgtcctgatgccagCcttgaagatgcaaaaaaaga	14	10	9	8	0	1	4	1	2	0	2	2	4	2	4	3	0	3	1	3	0	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:8025464C>T	ENST00000493678.1	+	3	238	c.171C>T	c.(169-171)agC>agT	p.S57S	PARK7_ENST00000377491.1_Silent_p.S57S|PARK7_ENST00000377493.5_Silent_p.S57S|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000338639.5_Silent_p.S57S|PARK7_ENST00000377488.1_Silent_p.S57S			Q99497	PARK7_HUMAN	parkinson protein 7	57					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		CTGATGCCAGCCTTGAAGATG	0.418													6	50					0	0	0	0	T	8025464	C	T	8025464	2	4	357	1	0	0	0	0	0	0	0	1	11521	738	26	4		4	PARK7	1	8025464	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	228138	8025464	241225157	8	67300											
CLCN6	1185	broad.mit.edu	37	chr1	11898422	11898422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccgcgcctctcctatgccGagatggccgaggactacccg	7	6	12	16	5	1	1	0	0	1	1	2	4	1	2	6	2	3	0	6	2	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:11898422G>A	ENST00000346436.6	+	21	2378	c.2326G>A	c.(2326-2328)Gag>Aag	p.E776K	CLCN6_ENST00000376496.3_Missense_Mutation_p.E776K|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.E754K	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	776					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCTATGCCGAGATGGCCGA	0.662											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	59					0	0	0	0	A	11898422	G	A	11898422	3	1	357	1	0	0	0	0	1	0	0	0	3497	1059	37	1	2418	1	CLCN6	1	11898422	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3872958	11898422	237352199	9	67301											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855677	12855677	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctcccagtacccaagcctCggttacctaaagcatctgaa	11	9	6	15	1	2	1	0	1	2	0	4	1	2	1	4	1	4	3	4	1	6	3	rs142654121		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:12855677C>T	ENST00000332296.7	+	4	1060	c.957C>T	c.(955-957)ctC>ctT	p.L319L	PRAMEF1_ENST00000400814.3_Silent_p.L74L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	319										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCAAGCCTCGGTTACCTAA	0.493													36	102					0	0	0	0	T	12855677	C	T	12855677	2	4	357	1	0	0	0	0	0	0	0	1	12501	871	31	1		1	PRAMEF1	1	12855677	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	957255	12855677	236394944	10	67302											
EPHA2	1969	broad.mit.edu	37	chr1	16464404	16464404	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcggctggttaccaggcctGagacgccattgcgggcctcc	5	8	14	14	3	0	1	0	1	0	1	1	2	1	1	5	4	3	2	5	4	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:16464404G>C	ENST00000358432.5	-	5	1410	c.1256C>G	c.(1255-1257)tCa>tGa	p.S419*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	419	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TACCAGGCCTGAGACGCCATT	0.637													9	76					0	0	0	0	C	16464404	G	C	16464404	4	2	357	1	0	0	0	0	0	1	0	0	5205	1294	45	2	1726	2	EPHA2	1	16464404	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3608727	16464404	232786217	11	67303											
EPHA2	1969	broad.mit.edu	37	chr1	16464591	16464591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtagacaatgtcctcgcGgcccccgctgtcctgagggg	5	8	14	14	3	0	2	0	1	0	1	3	2	2	2	4	3	0	3	4	3	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:16464591G>A	ENST00000358432.5	-	5	1223	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	357	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ATGTCCTCGCGGCCCCCGCTG	0.677													7	28					0	0	0	0	A	16464591	G	A	16464591	3	1	357	1	0	0	0	0	1	0	0	0	5205	1116	39	1	1913	1	EPHA2	1	16464591	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	187	16464591	232786030	12	67304											
NBPF1	55672	broad.mit.edu	37	chr1	16918493	16918493	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctctgccttctcgctggaCcaagggccagctgataccac	7	9	10	15	1	2	1	0	1	2	0	4	2	2	2	4	2	3	2	4	2	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:16918493C>T	ENST00000430580.2	-	7	911	c.24G>A	c.(22-24)tgG>tgA	p.W8*		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	8						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTCGCTGGACCAAGGGCCAG	0.493													40	405					0	0	0	0	T	16918493	C	T	16918493	4	4	357	1	0	0	0	0	0	1	0	0	10262	508	18	4	3492	4	NBPF1	1	16918493	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	453902	16918493	232332128	13	67305											
GRHL3	57822	broad.mit.edu	37	chr1	24680895	24680895	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatggacaacaacatcattCagcattacagcaaccacgtc	16	7	5	13	1	2	0	2	0	0	0	3	1	2	1	1	1	6	2	1	1	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:24680895C>T	ENST00000361548.4	+	16	1956	c.1726C>T	c.(1726-1728)Cag>Tag	p.Q576*	GRHL3_ENST00000236255.4_Nonsense_Mutation_p.Q581*|GRHL3_ENST00000356046.2_Nonsense_Mutation_p.Q530*|GRHL3_ENST00000350501.5_Intron|GRHL3_ENST00000342072.4_Nonsense_Mutation_p.Q483*	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	0					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAACATCATTCAGCATTACAG	0.517													13	50					0	0	0	0	T	24680895	C	T	24680895	4	4	357	1	0	0	0	0	0	1	0	0	6815	827	29	2	1824	2	GRHL3	1	24680895	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	7762402	24680895	224569726	14	67306											
STX12	23673	broad.mit.edu	37	chr1	28120102	28120102	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacaaatgaattgctgaaaGaattagggtccttgcccctt	14	11	8	8	0	0	3	0	2	0	1	1	3	1	3	3	1	3	1	3	1	6	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:28120102G>C	ENST00000373943.4	+	3	372	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	83					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGCTGAAAGAATTAGGGTC	0.388													9	36					0	0	0	0	C	28120102	G	C	28120102	3	2	357	1	0	0	0	0	1	0	0	0	15428	943	33	2	257	2	STX12	1	28120102	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3439207	28120102	221130519	15	67307											
MECR	51102	broad.mit.edu	37	chr1	29520610	29520610	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagactggtagtcctgcagcGggacctgggagcaggcaggg	8	5	18	10	1	0	1	0	0	0	1	1	3	1	3	2	5	3	4	2	5	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:29520610G>C	ENST00000373791.3	-	10	1190	c.818C>G	c.(817-819)cCg>cGg	p.P273R	MECR_ENST00000263702.6_Missense_Mutation_p.P349R	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	349					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GTCCTGCAGCGGGACCTGGGA	0.567													34	139					0	0	0	0	C	29520610	G	C	29520610	3	2	357	1	0	0	0	0	1	0	0	0	9493	1116	39	3	79	3	MECR	1	29520610	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1400508	29520610	219730011	16	67308											
PTPRU	10076	broad.mit.edu	37	chr1	29631880	29631880	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagatgatcggcaccgagtGaaactgcacccgatgctggg	11	6	13	11	3	0	3	0	2	0	1	1	5	0	3	2	2	3	3	2	2	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:29631880G>A	ENST00000373779.3	+	18	2889	c.2760G>A	c.(2758-2760)gtG>gtA	p.V920V	PTPRU_ENST00000460170.2_Silent_p.V920V|PTPRU_ENST00000428026.2_Silent_p.V920V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Silent_p.V930V|PTPRU_ENST00000356870.3_Silent_p.V920V|PTPRU_ENST00000323874.8_Silent_p.V920V	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	930	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGCACCGAGTGAAACTGCACC	0.577													21	89					0	0	0	0	A	29631880	G	A	29631880	2	1	357	1	0	0	0	0	0	0	0	1	12895	1277	45	2		2	PTPRU	1	29631880	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	111270	29631880	219618741	17	67309											
TRIM62	55223	broad.mit.edu	37	chr1	33646718	33646718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagcagagaagcgcgcggtCcgtgaggcagaagagcttga	12	4	17	8	4	0	5	0	2	0	3	1	7	1	5	1	2	3	3	1	2	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:33646718C>T	ENST00000291416.5	-	1	549	c.316G>A	c.(316-318)Gac>Aac	p.D106N	TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	106						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				AGCGCGCGGTCCGTGAGGCAG	0.672													6	25					0	0	0	0	T	33646718	C	T	33646718	3	4	357	1	0	0	0	0	1	0	0	0	16632	855	30	2	1131	2	TRIM62	1	33646718	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	4014838	33646718	215603903	18	67310											
MACF1	23499	broad.mit.edu	37	chr1	39901263	39901263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctattgctgaacacaaacctCatattgacaaactactaaag	17	10	4	10	0	1	2	1	2	0	0	1	2	1	2	1	0	5	1	1	0	8	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:39901263C>T	ENST00000564288.1	+	70	18595	c.17818C>T	c.(17818-17820)Cat>Tat	p.H5940Y	MACF1_ENST00000361689.2_Missense_Mutation_p.H3878Y|MACF1_ENST00000372915.3_Missense_Mutation_p.H5836Y|MACF1_ENST00000317713.7_Missense_Mutation_p.H3878Y|MACF1_ENST00000289893.4_Missense_Mutation_p.H4380Y|MACF1_ENST00000567887.1_Missense_Mutation_p.H5977Y|MACF1_ENST00000545844.1_Missense_Mutation_p.H3878Y|MACF1_ENST00000539005.1_Missense_Mutation_p.H3748Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5937					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACACAAACCTCATATTGACAA	0.328													14	63					0	0	0	0	T	39901263	C	T	39901263	3	4	357	1	0	0	0	0	1	0	0	0	9209	826	29	2	18041	2	MACF1	1	39901263	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	6254545	39901263	209349358	19	67311											
RIMKLA	284716	broad.mit.edu	37	chr1	42880523	42880523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtctacctctagtgaaagtGagcctgaactgggagagatc	11	9	13	8	0	2	4	0	3	2	1	3	6	2	5	2	2	3	0	2	2	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:42880523G>A	ENST00000431473.3	+	5	1183	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	352					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TAGTGAAAGTGAGCCTGAACT	0.552													17	77					0	0	0	0	A	42880523	G	A	42880523	3	1	357	1	0	0	0	0	1	0	0	0	13450	1291	45	2	1072	2	RIMKLA	1	42880523	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2979260	42880523	206370098	20	67312											
CLDN19	149461	broad.mit.edu	37	chr1	43201677	43201677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagctgaggcccagcccacGaacagggctgggccaaattc	10	4	12	15	1	0	1	0	1	0	0	1	2	0	1	4	3	3	2	4	3	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:43201677G>A	ENST00000539749.1	-	3	603	c.413C>T	c.(412-414)tCg>tTg	p.S138L	CLDN19_ENST00000296387.1_Silent_p.F166F|CLDN19_ENST00000372539.3_Silent_p.F166F	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN	claudin 19	138					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCAGCCCACGAACAGGGCTG	0.647													3	5					0	0	0	0	A	43201677	G	A	43201677	3	1	357	1	0	0	0	0	1	0	0	0	3510	1059	37	1	300	1	CLDN19	1	43201677	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	321154	43201677	206048944	21	67313											
TMEM125	128218	broad.mit.edu	37	chr1	43738853	43738853	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgtctgtgggcattgctCtggctgccttgggctcgctt	1	15	14	11	1	2	0	0	0	2	0	3	0	2	0	1	3	3	6	1	3	0	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:43738853C>G	ENST00000432792.2	+	4	1030	c.460C>G	c.(460-462)Ctg>Gtg	p.L154V	TMEM125_ENST00000439858.1_Missense_Mutation_p.L154V			Q96AQ2	TM125_HUMAN	transmembrane protein 125	154						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGCATTGCTCTGGCTGCCTT	0.687													7	32					0	0	0	0	G	43738853	C	G	43738853	3	3	357	1	0	0	0	0	1	0	0	0	16131	912	32	2	462	2	TMEM125	1	43738853	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	537176	43738853	205511768	22	67314											
ATP6V0B	533	broad.mit.edu	37	chr1	44442910	44442910	+	Frame_Shift_Del	DEL	C	C	-																															tgatgaatccccttgggaagCctctgtgtccttgtccccaa																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:44442910delC	ENST00000532642.1	+	7	710	c.613delC	c.(613-615)ctfs	p.P205fs	ATP6V0B_ENST00000471859.2_Intron|ATP6V0B_ENST00000472174.2_Intron|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000498664.1_Intron			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	110					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCTTGGGAAGCCTCTGTGTCC	0.502													12	60	---	---	---	---					-	44442910	C	-	44442910	7	5	357	1	0	1	0	1	0	0	0	0	1175	754	26	0		0	ATP6V0B	1	44442910	Frame_Shift_Del	DEL	C	TCGA-CV-A6K2-01A-11D-A31L-08	704057	44442910	204807711	23	67315											
MKNK1	8569	broad.mit.edu	37	chr1	47025908	47025908	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggtcagagcatttacctCtggaggacttgcggcgtggg	6	10	17	8	2	2	1	1	0	1	1	2	3	2	3	1	6	3	1	1	6	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:47025908C>T	ENST00000371946.4	-	13	1333	c.1170G>A	c.(1168-1170)caG>caA	p.Q390Q	MKNK1_ENST00000428112.2_Intron|MKNK1_ENST00000341183.5_Intron|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371945.4_Silent_p.Q349Q|MKNK1_ENST00000371944.4_Silent_p.Q254Q	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	390					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GCATTTACCTCTGGAGGACTT	0.587													5	41					0	0	0	0	T	47025908	C	T	47025908	2	4	357	1	0	0	0	0	0	0	0	1	9673	912	32	2		2	MKNK1	1	47025908	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2582998	47025908	202224713	24	67316											
DMRTA2	63950	broad.mit.edu	37	chr1	50885279	50885279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccgcacctctggggaCgacgtcccgggccccgagtc	4	4	15	18	6	1	0	0	0	1	0	3	3	2	1	6	4	0	1	6	4	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:50885279C>T	ENST00000404795.3	-	3	1079	c.687G>A	c.(685-687)tcG>tcA	p.S229S	DMRTA2_ENST00000418121.1_Silent_p.S229S	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	229	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						CCTCTGGGGACGACGTCCCGG	0.706													5	8					0	0	0	0	T	50885279	C	T	50885279	2	4	357	1	0	0	0	0	0	0	0	1	4626	523	19	1		1	DMRTA2	1	50885279	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3859371	50885279	198365342	25	67317											
TMEM61	199964	broad.mit.edu	37	chr1	55452026	55452026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgctgtggtccgtcaaggCcagcatcccagggccacctc	6	7	11	17	1	1	0	1	0	0	0	4	0	3	0	6	3	2	2	6	3	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:55452026C>T	ENST00000371268.3	+	2	546	c.272C>T	c.(271-273)gCc>gTc	p.A91V	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	91						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TCCGTCAAGGCCAGCATCCCA	0.637													56	179					0	0	0	0	T	55452026	C	T	55452026	3	4	357	1	0	0	0	0	1	0	0	0	16282	739	26	4	278	4	TMEM61	1	55452026	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	4566747	55452026	193798595	26	67318											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	77094490	77094490	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaaactggacattgtcttGataatggttttcctgatctt	9	17	7	8	0	2	2	0	2	2	0	4	3	4	3	2	2	1	1	2	2	2	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:77094490G>C	ENST00000328299.3	+	5	1065	c.917G>C	c.(916-918)tGa>tCa	p.*306S		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	0					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.*306S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATTGTCTTGATAATGGTTT	0.398													18	88					0	0	0	0	C	77094490	G	C	77094490	4	2	357	1	0	0	0	0	0	0	0	0	15315	1285	45	2	949	2	ST6GALNAC3	1	77094490	Nonstop_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	21642464	77094490	172156131	27	67319											
AK5	26289	broad.mit.edu	37	chr1	77883349	77883349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgaccttgatccttcgatGatattggacactggagagat	11	12	11	7	1	0	4	0	3	0	1	2	8	1	6	2	2	0	0	2	2	1	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:77883349G>A	ENST00000344720.5	+	8	1956	c.930G>A	c.(928-930)atG>atA	p.M310I	AK5_ENST00000354567.2_Missense_Mutation_p.M336I	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	336					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATCCTTCGATGATATTGGACA	0.333													6	29					0	0	0	0	A	77883349	G	A	77883349	3	1	357	1	0	0	0	0	1	0	0	0	443	1290	45	2	1038	2	AK5	1	77883349	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	788859	77883349	171367272	28	67320											
MCOLN3	55283	broad.mit.edu	37	chr1	85491874	85491874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgctgaagctgaagtcctCtaatcacagatctaatgcag	12	10	8	11	0	3	3	1	2	2	1	4	3	4	3	2	0	3	3	2	0	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:85491874C>G	ENST00000370587.1	-	9	1302	c.926G>C	c.(925-927)aGa>aCa	p.R309T	MCOLN3_ENST00000341115.4_Missense_Mutation_p.R253T|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370589.2_Missense_Mutation_p.R309T			Q8TDD5	MCLN3_HUMAN	mucolipin 3	309						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CTGAAGTCCTCTAATCACAGA	0.413													4	55					0	0	0	0	G	85491874	C	G	85491874	3	3	357	1	0	0	0	0	1	0	0	0	9466	913	32	2	759	2	MCOLN3	1	85491874	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	7608525	85491874	163758747	29	67321											
CLCA2	9635	broad.mit.edu	37	chr1	86919096	86919096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaatcagtaggcagaaatGaggaggagcgaaagtggggc	15	4	18	4	1	1	2	1	1	0	1	1	6	1	5	0	6	1	2	0	6	4	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:86919096G>C	ENST00000370565.4	+	13	2362	c.2200G>C	c.(2200-2202)Gag>Cag	p.E734Q	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	734					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGGCAGAAATGAGGAGGAGCG	0.458													10	70					0	0	0	0	C	86919096	G	C	86919096	3	2	357	1	0	0	0	0	1	0	0	0	3488	1291	45	2	2250	2	CLCA2	1	86919096	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1427222	86919096	162331525	30	67322											
CLCA2	9635	broad.mit.edu	37	chr1	86921183	86921183	+	Missense_Mutation	SNP	G	G	C																															aggaaaaagagagcagacaaGaaagagaatggaacaaaatt																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:86921183G>C	ENST00000370565.4	+	14	2967	c.2805G>C	c.(2803-2805)aaG>aaC	p.K935N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	935					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GAGCAGACAAGAAAGAGAATG	0.323													9	61					0	0	0	0	C	86921183	G	C	86921183	3	2	357	1	0	0	0	0	1	0	0	0	3488	933	33	2	2859	2	CLCA2	1	86921183	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2087	86921183	162329438	31	67323	825	2									
CLCA2	9635	broad.mit.edu	37	chr1	86921187	86921187	+	Missense_Mutation	SNP	G	G	A																															aaaagagagcagacaagaaaGagaatggaacaaaattatta																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:86921187G>A	ENST00000370565.4	+	14	2971	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	937					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGACAAGAAAGAGAATGGAAC	0.328													9	57					0	0	0	0	A	86921187	G	A	86921187	3	1	357	1	0	0	0	0	1	0	0	0	3488	943	33	2	2863	2	CLCA2	1	86921187	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4	86921187	162329434	32	67324	825	2									
LRRC8C	84230	broad.mit.edu	37	chr1	90179711	90179711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagttggctctctaagtcatGatatttccagaaatgtcacc	11	14	7	9	0	3	2	2	1	1	1	5	2	4	2	2	1	0	2	2	1	4	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:90179711G>C	ENST00000370454.4	+	3	1837	c.1582G>C	c.(1582-1584)Gat>Cat	p.D528H	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	528						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TCTAAGTCATGATATTTCCAG	0.468													10	52					0	0	0	0	C	90179711	G	C	90179711	3	2	357	1	0	0	0	0	1	0	0	0	9087	1290	45	2	1588	2	LRRC8C	1	90179711	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3258524	90179711	159070910	33	67325											
EVI5	7813	broad.mit.edu	37	chr1	92979214	92979214	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctaggtcacagtgatggtCagacagtggttgaatacgac	11	10	13	7	1	3	3	2	2	1	1	3	4	3	3	0	3	1	1	0	3	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:92979214C>G	ENST00000370331.1	-	18	2441	c.2432G>C	c.(2431-2433)tGa>tCa	p.*811S	EVI5_ENST00000543509.1_Nonstop_Mutation_p.*822S|EVI5_ENST00000540033.1_Nonstop_Mutation_p.*811S	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	0					cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CAGTGATGGTCAGACAGTGGT	0.408													24	145					0	0	0	0	G	92979214	C	G	92979214	4	3	357	1	0	0	0	0	0	0	0	0	5327	837	29	2	4	2	EVI5	1	92979214	Nonstop_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2799503	92979214	156271407	34	67326											
MTF2	22823	broad.mit.edu	37	chr1	93576131	93576131	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaacagagctgcttcatCatatttgaagacagttctaa	14	13	7	7	0	3	4	2	2	1	2	3	4	3	4	0	0	3	3	0	0	4	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:93576131C>T	ENST00000370298.4	+	3	523	c.234C>T	c.(232-234)atC>atT	p.I78I	MTF2_ENST00000545708.1_5'UTR|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000370303.4_Silent_p.I78I|MTF2_ENST00000540243.1_Intron	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	78						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GCTGCTTCATCATATTTGAAG	0.299													8	53					0	0	0	0	T	93576131	C	T	93576131	2	4	357	1	0	0	0	0	0	0	0	1	9993	816	29	2		2	MTF2	1	93576131	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	596917	93576131	155674490	35	67327											
EXTL2	2135	broad.mit.edu	37	chr1	101342389	101342389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacaaggtctggggtgctGatgagtgtgtcatcatctac	11	11	12	7	0	4	2	2	2	2	0	4	2	4	2	0	3	3	1	0	3	4	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:101342389G>A	ENST00000370114.3	-	4	1901	c.465C>T	c.(463-465)atC>atT	p.I155I	EXTL2_ENST00000370113.3_Silent_p.I155I|EXTL2_ENST00000535414.1_Silent_p.I142I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	155					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		CTGGGGTGCTGATGAGTGTGT	0.348													18	78					0	0	0	0	A	101342389	G	A	101342389	2	1	357	1	0	0	0	0	0	0	0	1	5364	1280	45	2		2	EXTL2	1	101342389	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	7766258	101342389	147908232	36	67328											
DPH5	51611	broad.mit.edu	37	chr1	101456010	101456010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgagctattttctggtatgGaaaacagacttagcatctcc	11	13	8	9	0	2	2	0	1	2	1	3	3	2	3	1	2	3	3	1	2	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:101456010G>A	ENST00000593496.1	+	1	250	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	DPH5_ENST00000488176.1_Missense_Mutation_p.S271F|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000427040.2_Missense_Mutation_p.S32F|DPH5_ENST00000342173.7_Missense_Mutation_p.S270F|DPH5_ENST00000370109.3_Missense_Mutation_p.S271F																							TTCTGGTATGGAAAACAGACT	0.393													17	76					0	0	0	0	A	101456010	G	A	101456010	3	1	357	1	0	0	0	0	1	0	0	0	4759	1174	41	2	49	2	DPH5	1	101456010	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	113621	101456010	147794611	37	67329											
GSTM4	2948	broad.mit.edu	37	chr1	110201819	110201819	+	Frame_Shift_Del	DEL	G	G	-																															cagtcctggagctacataaaGaataacttgcatttattgag																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:110201819delG	ENST00000369833.1	+	5	1445	c.531delG	c.(529-531)aafs	p.K177fs	GSTM4_ENST00000336075.5_Intron|GSTM4_ENST00000495742.1_Intron|GSTM4_ENST00000369836.4_Intron|GSTM4_ENST00000326729.5_Intron			Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCTACATAaagaataacttgc	0.468													7	65	---	---	---	---					-	110201819	G	-	110201819	7	5	357	1	0	1	0	1	0	0	0	0	6890	957	33	0		0	GSTM4	1	110201819	Frame_Shift_Del	DEL	G	TCGA-CV-A6K2-01A-11D-A31L-08	8745809	110201819	139048802	38	67330											
LRIG2	9860	broad.mit.edu	37	chr1	113661879	113661879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactggtacccgggtgatttGctcagattgttatgacaatg	9	13	11	8	1	1	3	1	2	0	1	1	3	1	3	1	2	2	3	1	2	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:113661879G>A	ENST00000361127.4	+	17	2903	c.2705G>A	c.(2704-2706)tGc>tAc	p.C902Y	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	902						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CGGGTGATTTGCTCAGATTGT	0.398													23	103					0	0	0	0	A	113661879	G	A	113661879	3	1	357	1	0	0	0	0	1	0	0	0	9009	1319	46	4	2771	4	LRIG2	1	113661879	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3460060	113661879	135588742	39	67331											
ATP1A1	476	broad.mit.edu	37	chr1	116946585	116946585	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaaactcatcatcaggCgacgccctggcggtaattat	12	9	9	11	3	4	1	4	0	0	1	4	2	4	1	1	3	1	1	1	3	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:116946585C>A	ENST00000537345.1	+	22	3394	c.3031C>A	c.(3031-3033)Cga>Aga	p.R1011R	ATP1A1_ENST00000369496.4_Silent_p.R980R|ATP1A1_ENST00000295598.5_Silent_p.R1011R	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	1011					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	p.R1011*(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	CATCATCAGGCGACGCCCTGG	0.483													28	80					7.26314e-15	7.69959e-15	1	0	A	116946585	C	A	116946585	2	1	357	1	0	0	0	0	0	0	0	1	1132	760	27	3		3	ATP1A1	1	116946585	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3284706	116946585	132304036	40	67332											
PDE4DIP	9659	broad.mit.edu	37	chr1	144922249	144922249	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgccattgtgtcattttGaccttcaattacctggtaca	8	17	6	10	0	2	1	2	1	0	0	2	1	2	1	3	1	3	1	3	1	3	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:144922249G>A	ENST00000529945.1	-	4	1847	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*	PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.Q94*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.Q444*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q373*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q444*|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.Q470*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	307					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTGTCATTTTGACCTTCAATT	0.398			T	PDGFRB	MPD								3	28					0	0	0	0	A	144922249	G	A	144922249	4	1	357	1	0	0	0	0	0	1	0	0	11714	1299	45	2	6279	2	PDE4DIP	1	144922249	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	27975664	144922249	104328372	41	67333											
PDE4DIP	9659	broad.mit.edu	37	chr1	144931376	144931376	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacatgtcaaccgtcccattCcccgccttgatctccgcgcc	6	9	7	19	4	2	1	1	1	1	0	5	2	4	1	7	0	1	0	7	0	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:144931376C>T	ENST00000529945.1	-	1	772	c.333G>A	c.(331-333)ggG>ggA	p.G111G	PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_Silent_p.G111G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCGTCCCATTCCCCGCCTTGA	0.532			T	PDGFRB	MPD								22	266					0	0	0	0	T	144931376	C	T	144931376	2	4	357	1	0	0	0	0	0	0	0	1	11714	842	30	2		2	PDE4DIP	1	144931376	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	9127	144931376	104319245	42	67334											
GJA5	2702	broad.mit.edu	37	chr1	147230401	147230401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaggcttctggccataacGaacctggatgaaaccttccc	10	9	8	14	1	2	1	1	1	1	0	3	3	3	2	4	3	3	1	4	3	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:147230401G>A	ENST00000271348.2	-	2	1107	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	GJA5_ENST00000369237.1_Missense_Mutation_p.R316C|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	316					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.R316C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGGCCATAACGAACCTGGATG	0.537													27	83					0	0	0	0	A	147230401	G	A	147230401	3	1	357	1	0	0	0	0	1	0	0	0	6455	1058	37	1	134	1	GJA5	1	147230401	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2299025	147230401	102020220	43	67335											
PRUNE	58497	broad.mit.edu	37	chr1	151006632	151006632	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatcaggggctgcctaaactCtctgctgaggccgtcttcga	7	10	12	12	2	3	1	1	1	2	0	5	3	3	1	2	3	3	2	2	3	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:151006632C>G	ENST00000271620.3	+	8	1440	c.1284C>G	c.(1282-1284)ctC>ctG	p.L428L	PRUNE_ENST00000368935.1_Silent_p.L143L|PRUNE_ENST00000368936.1_Silent_p.L246L|PRUNE_ENST00000368937.1_Silent_p.L193L|PRUNE_ENST00000271619.8_Silent_p.L216L|PRUNE_ENST00000368934.1_Silent_p.L193L	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	428						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCCTAAACTCTCTGCTGAGG	0.572													41	167					0	0	0	0	G	151006632	C	G	151006632	2	3	357	1	0	0	0	0	0	0	0	1	12719	900	32	2		2	PRUNE	1	151006632	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3776231	151006632	98243989	44	67336											
ZNF687	57592	broad.mit.edu	37	chr1	151258894	151258894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcctggaggcccagggaagCcagaaccaggtgtaggaagt	11	4	17	9	0	0	1	0	0	0	1	0	4	0	4	4	6	2	1	4	6	4	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:151258894C>T	ENST00000368879.2	+	2	225	c.127C>T	c.(127-129)Cca>Tca	p.P43S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCAGGGAAGCCAGAACCAGG	0.577													18	81					0	0	0	0	T	151258894	C	T	151258894	3	4	357	1	0	0	0	0	1	0	0	0	18187	739	26	4	129	4	ZNF687	1	151258894	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	252262	151258894	97991727	45	67337											
TCHH	7062	broad.mit.edu	37	chr1	152080995	152080995	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagctgctgttcctccctCtcctggcgcagctgttcctc	2	13	8	18	1	2	0	1	0	1	0	7	0	5	0	4	1	3	6	4	1	0	2	rs71585886		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:152080995C>G	ENST00000368804.1	-	2	4697	c.4698G>C	c.(4696-4698)gaG>gaC	p.E1566D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1566	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTCCCTCTCCTGGCGCA	0.592													9	119					0	0	0	0	G	152080995	C	G	152080995	3	3	357	1	0	0	0	0	1	0	0	0	15794	912	32	2	1137	2	TCHH	1	152080995	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	822101	152080995	97169626	46	67338											
FLG	2312	broad.mit.edu	37	chr1	152276983	152276983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggctgtgatgggaccctGagtgtccagacctatctacc	7	11	12	11	0	1	3	0	2	1	1	2	4	2	4	4	2	1	1	4	2	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:152276983G>A	ENST00000368799.1	-	3	10414	c.10379C>T	c.(10378-10380)tCa>tTa	p.S3460L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3460	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGACCCTGAGTGTCCAGA	0.572									Ichthyosis				10	534					0	0	0	0	A	152276983	G	A	152276983	3	1	357	1	0	0	0	0	1	0	0	0	5967	1294	45	2	1810	2	FLG	1	152276983	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	195988	152276983	96973638	47	67339											
FLG2	388698	broad.mit.edu	37	chr1	152323297	152323297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaatgacttgctctactaGatctggaacctgtctgtgtg	10	13	10	8	0	3	2	0	1	3	1	3	4	3	3	1	1	3	1	1	1	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:152323297G>A	ENST00000388718.5	-	3	7037	c.6965C>T	c.(6964-6966)tCt>tTt	p.S2322F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2322							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCTACTAGATCTGGAACC	0.453													44	170					0	0	0	0	A	152323297	G	A	152323297	3	1	357	1	0	0	0	0	1	0	0	0	5968	942	33	2	214	2	FLG2	1	152323297	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	46314	152323297	96927324	48	67340											
FLG2	388698	broad.mit.edu	37	chr1	152326687	152326687	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcagatatatgttgtccaGaactagagaaattgtctgag	14	12	10	5	0	2	4	1	1	1	3	3	5	3	4	1	0	1	1	1	0	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:152326687G>C	ENST00000388718.5	-	3	3647	c.3575C>G	c.(3574-3576)tCt>tGt	p.S1192C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1192	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTTGTCCAGAACTAGAGAA	0.493													18	86					0	0	0	0	C	152326687	G	C	152326687	3	2	357	1	0	0	0	0	1	0	0	0	5968	942	33	2	3604	2	FLG2	1	152326687	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3390	152326687	96923934	49	67341											
HAX1	10456	broad.mit.edu	37	chr1	154246309	154246309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacgggagggacagacacttCgggactcaatgcttaagtat	12	9	12	8	2	1	1	1	0	0	1	2	4	1	4	0	3	2	2	0	3	4	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:154246309C>T	ENST00000328703.7	+	3	589	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	HAX1_ENST00000483970.2_Missense_Mutation_p.R134W|HAX1_ENST00000457918.2_Missense_Mutation_p.R78W|HAX1_ENST00000532105.1_5'UTR	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	126	Involved in HCLS1 binding.					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAGACACTTCGGGACTCAAT	0.542									Kostmann syndrome				8	162					0	0	0	0	T	154246309	C	T	154246309	3	4	357	1	0	0	0	0	1	0	0	0	7025	875	31	1	386	1	HAX1	1	154246309	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1919622	154246309	95004312	50	67342											
ATP8B2	57198	broad.mit.edu	37	chr1	154317988	154317988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttcaccatggtccacttCtggtttggcttcttctgtgg	3	17	10	11	0	4	0	1	0	3	0	5	0	5	0	2	4	0	3	2	4	0	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:154317988C>G	ENST00000368489.3	+	23	2760	c.2760C>G	c.(2758-2760)ttC>ttG	p.F920L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	906					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGTCCACTTCTGGTTTGGCT	0.483											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	301					0	0	0	0	G	154317988	C	G	154317988	3	3	357	1	0	0	0	0	1	0	0	0	1199	912	32	2	2980	2	ATP8B2	1	154317988	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	71679	154317988	94932633	51	67343											
DCST2	127579	broad.mit.edu	37	chr1	155001821	155001821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggtgtcggataaggttGaaggtctccagaatgtaaaa	14	9	14	4	1	1	2	0	1	1	1	3	4	1	4	1	5	0	2	1	5	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:155001821G>A	ENST00000368424.3	-	8	1288	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	DCST2_ENST00000295536.5_Silent_p.F410F	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	410						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGATAAGGTTGAAGGTCTCCA	0.552													20	110					0	0	0	0	A	155001821	G	A	155001821	2	1	357	1	0	0	0	0	0	0	0	1	4335	1281	45	2		2	DCST2	1	155001821	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	683833	155001821	94248800	52	67344											
DCST1	149095	broad.mit.edu	37	chr1	155018896	155018896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtggtgctgtgtggcttgGactgggctctctactccatc	3	14	14	10	0	1	0	0	0	1	0	4	1	2	1	1	5	2	3	1	5	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:155018896G>A	ENST00000295542.1	+	13	1525	c.1429G>A	c.(1429-1431)Gac>Aac	p.D477N	DCST1_ENST00000392480.1_Missense_Mutation_p.D477N|DCST1_ENST00000368419.2_Missense_Mutation_p.D477N|DCST1_ENST00000423025.2_Missense_Mutation_p.D452N	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	477						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GTGTGGCTTGGACTGGGCTCT	0.612													22	78					0	0	0	0	A	155018896	G	A	155018896	3	1	357	1	0	0	0	0	1	0	0	0	4334	1174	41	2	1475	2	DCST1	1	155018896	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	17075	155018896	94231725	53	67345											
SMG5	23381	broad.mit.edu	37	chr1	156243190	156243190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagggcttggtagtaaaatCtctcggctagcagctcggta	10	10	12	9	2	1	0	0	0	1	0	4	0	1	0	0	4	2	7	0	4	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:156243190C>T	ENST00000361813.5	-	6	740	c.596G>A	c.(595-597)aGa>aAa	p.R199K	SMG5_ENST00000368267.4_Missense_Mutation_p.R199K	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	199					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GTAGTAAAATCTCTCGGCTAG	0.468													8	27					0	0	0	0	T	156243190	C	T	156243190	3	4	357	1	0	0	0	0	1	0	0	0	14884	913	32	2	2522	2	SMG5	1	156243190	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1224294	156243190	93007431	54	67346											
ISG20L2	81875	broad.mit.edu	37	chr1	156693940	156693940	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgtggggagatgctacCtggatatcccggtttagcag	8	10	16	7	1	0	1	0	0	0	1	1	4	1	3	2	5	3	3	2	5	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:156693940C>T	ENST00000313146.6	-	2	1730	c.948_splice	c.e2+1	p.Q316_splice	ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Splice_Site_p.Q316_splice	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	316	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGATGCTACCTGGATATCCC	0.572													22	105					0	0	0	0	T	156693940	C	T	156693940	5	4	357	1	0	0	0	0	0	0	1	0	7908	695	24	4	121	4	ISG20L2	1	156693940	Splice_Site	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	450750	156693940	92556681	55	67347											
OR10K2	391107	broad.mit.edu	37	chr1	158390306	158390306	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtaacgatcataacccatGactgccagcagaaaggagtg	15	7	10	9	1	1	2	1	1	0	1	1	4	1	3	2	1	4	2	2	1	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:158390306G>A	ENST00000314902.2	-	1	350	c.351C>T	c.(349-351)gtC>gtT	p.V117V		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CATAACCCATGACTGCCAGCA	0.517													28	83					0	0	0	0	A	158390306	G	A	158390306	2	1	357	1	0	0	0	0	0	0	0	1	10985	1277	45	2		2	OR10K2	1	158390306	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1696366	158390306	90860315	56	67348											
ADCY10	55811	broad.mit.edu	37	chr1	167868766	167868766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattcatctgagccatgttCtgggcaaggcgcacatcgtc	8	11	10	12	2	4	1	2	1	2	0	6	1	4	1	1	2	1	3	1	2	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:167868766C>G	ENST00000367848.1	-	6	758	c.261G>C	c.(259-261)caG>caC	p.Q87H	ADCY10_ENST00000367851.4_Missense_Mutation_p.Q179H|ADCY10_ENST00000545172.1_Missense_Mutation_p.Q26H			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	179	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|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						GAGCCATGTTCTGGGCAAGGC	0.507													8	30					0	0	0	0	G	167868766	C	G	167868766	3	3	357	1	0	0	0	0	1	0	0	0	293	912	32	2	4407	2	ADCY10	1	167868766	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	9478460	167868766	81381855	57	67349											
DCAF6	55827	broad.mit.edu	37	chr1	167962616	167962616	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagattacatatatctttttGacccgaaagatgatacagca	15	12	6	8	1	1	4	0	2	1	2	1	5	1	4	1	0	3	1	1	0	5	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:167962616G>C	ENST00000367840.3	+	7	935	c.841G>C	c.(841-843)Gac>Cac	p.D281H	DCAF6_ENST00000367843.3_Missense_Mutation_p.D281H|DCAF6_ENST00000432587.2_Missense_Mutation_p.D250H|DCAF6_ENST00000312263.6_Missense_Mutation_p.D281H	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	281					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						ATATCTTTTTGACCCGAAAGA	0.423													11	35					0	0	0	0	C	167962616	G	C	167962616	3	2	357	1	0	0	0	0	1	0	0	0	4307	1290	45	2	867	2	DCAF6	1	167962616	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	93850	167962616	81288005	58	67350											
SELP	6403	broad.mit.edu	37	chr1	169565312	169565312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgcctacagtacatggttCcctgcccaggagtggtgagg	8	9	14	10	0	0	1	0	1	0	0	1	3	1	2	3	4	4	2	3	4	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:169565312C>T	ENST00000263686.6	-	12	1989	c.1952G>A	c.(1951-1953)gGa>gAa	p.G651E	SELP_ENST00000367793.2_Missense_Mutation_p.G589E|SELP_ENST00000367786.2_Missense_Mutation_p.G589E|SELP_ENST00000367792.2_Missense_Mutation_p.G467E|SELP_ENST00000367791.2_Missense_Mutation_p.G465E|SELP_ENST00000367794.2_Missense_Mutation_p.G589E|SELP_ENST00000458599.2_Missense_Mutation_p.G467E|SELP_ENST00000367788.2_Missense_Mutation_p.G589E	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	651	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTACATGGTTCCCTGCCCAGG	0.493													40	224					0	0	0	0	T	169565312	C	T	169565312	3	4	357	1	0	0	0	0	1	0	0	0	14106	855	30	2	560	2	SELP	1	169565312	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1602696	169565312	79685309	59	67351											
PIGC	5279	broad.mit.edu	37	chr1	172410875	172410875	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggatgtcctaatttaactGaggaacctggacaagtcttc	12	12	9	8	0	1	1	0	1	1	0	3	4	2	4	2	3	2	0	2	3	4	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:172410875G>A	ENST00000367728.1	-	1	2351	c.888C>T	c.(886-888)ctC>ctT	p.L296L	PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Silent_p.L296L|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Silent_p.L296L			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	296					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TAATTTAACTGAGGAACCTGG	0.398													24	137					0	0	0	0	A	172410875	G	A	172410875	2	1	357	1	0	0	0	0	0	0	0	1	11958	1277	45	2		2	PIGC	1	172410875	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2845563	172410875	76839746	60	67352											
ASTN1	460	broad.mit.edu	37	chr1	176903328	176903328	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccagccagagtcgccgctgGacctgcttgtttgggtacca	6	10	12	13	2	0	1	0	0	0	1	2	2	1	2	5	2	3	4	5	2	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:176903328G>C	ENST00000367654.2	-	16	2668	c.2655C>G	c.(2653-2655)gtC>gtG	p.V885V	ASTN1_ENST00000424564.2_Silent_p.V877V|ASTN1_ENST00000361833.2_Silent_p.V877V|ASTN1_ENST00000367657.3_Silent_p.V877V			O14525	ASTN1_HUMAN	astrotactin 1	885					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						GTCGCCGCTGGACCTGCTTGT	0.502													16	64					0	0	0	0	C	176903328	G	C	176903328	2	2	357	1	0	0	0	0	0	0	0	1	1068	1161	41	2		2	ASTN1	1	176903328	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4492453	176903328	72347293	61	67353											
SEC16B	89866	broad.mit.edu	37	chr1	177928058	177928058	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctcagatttgcagctctGagctgctttctgctggcaaa	7	14	10	10	0	3	2	1	1	3	1	4	2	3	2	0	1	5	6	0	1	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:177928058G>C	ENST00000308284.6	-	9	1140	c.1051C>G	c.(1051-1053)Cag>Gag	p.Q351E	RP4-798P15.3_ENST00000528461.1_3'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.Q352E|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	351					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTGCAGCTCTGAGCTGCTTTC	0.478													8	28					0	0	0	0	C	177928058	G	C	177928058	3	2	357	1	0	0	0	0	1	0	0	0	14074	1299	45	2	2203	2	SEC16B	1	177928058	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1024730	177928058	71322563	62	67354											
TDRD5	163589	broad.mit.edu	37	chr1	179609568	179609568	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgttctttggcttgggtGagaccagtagaggtatgttt	6	16	13	6	0	1	2	0	1	1	2	1	3	1	2	2	3	0	5	2	3	2	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:179609568G>A	ENST00000444136.1	+	11	2038	c.1788G>A	c.(1786-1788)gtG>gtA	p.V596V	TDRD5_ENST00000367614.1_Silent_p.V596V|TDRD5_ENST00000294848.8_Silent_p.V596V	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	596					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGGCTTGGGTGAGACCAGTAG	0.408													7	71					0	0	0	0	A	179609568	G	A	179609568	2	1	357	1	0	0	0	0	0	0	0	1	15827	1277	45	2		2	TDRD5	1	179609568	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1681510	179609568	69641053	63	67355											
HMCN1	83872	broad.mit.edu	37	chr1	185987340	185987340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaggatggccagttaattGatgaaagggatggattcaag	14	10	14	3	0	1	3	1	3	0	0	1	6	1	6	1	4	0	1	1	4	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:185987340G>A	ENST00000271588.4	+	34	5555	c.5326G>A	c.(5326-5328)Gat>Aat	p.D1776N	HMCN1_ENST00000367492.2_Missense_Mutation_p.D1776N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1776	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCAGTTAATTGATGAAAGGGA	0.368													23	80					0	0	0	0	A	185987340	G	A	185987340	3	1	357	1	0	0	0	0	1	0	0	0	7270	1290	45	2	5460	2	HMCN1	1	185987340	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6377772	185987340	63263281	64	67356											
RGS18	64407	broad.mit.edu	37	chr1	192150586	192150586	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagactgatgccccaaaaGaggtacagtaaagataactg	17	7	9	8	0	0	4	0	1	0	3	0	4	0	4	2	1	4	2	2	1	7	4	rs140969834		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:192150586G>C	ENST00000367460.3	+	4	629	c.448G>C	c.(448-450)Gag>Cag	p.E150Q		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	150	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCCCCAAAAGAGGTACAGTA	0.269													7	38					0	0	0	0	C	192150586	G	C	192150586	3	2	357	1	0	0	0	0	1	0	0	0	13383	943	33	2	462	2	RGS18	1	192150586	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6163246	192150586	57100035	65	67357											
B3GALT2	8707	broad.mit.edu	37	chr1	193150182	193150182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcattgccccaagtttgccGaatagctcttctagcttcta	8	15	6	12	1	4	0	1	0	3	0	4	1	4	0	3	0	4	3	3	0	5	8			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:193150182G>A	ENST00000367434.4	-	2	1266	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	171					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CAAGTTTGCCGAATAGCTCTT	0.368													14	78					0	0	0	0	A	193150182	G	A	193150182	3	1	357	1	0	0	0	0	1	0	0	0	1252	1057	37	1	761	1	B3GALT2	1	193150182	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	999596	193150182	56100439	66	67358											
LHX9	56956	broad.mit.edu	37	chr1	197889215	197889215	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtggcatctgagatgcctGaagtgctgtgaatgtaagct	10	11	13	7	0	1	3	0	3	1	1	1	4	1	3	1	1	3	4	1	1	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:197889215G>A	ENST00000367390.3	+	3	288	c.261G>A	c.(259-261)ctG>ctA	p.L87L	LHX9_ENST00000561173.1_Silent_p.L102L|LHX9_ENST00000337020.2_Silent_p.L96L|LHX9_ENST00000367391.1_Silent_p.L87L|LHX9_ENST00000367387.4_Silent_p.L96L	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	96	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TGAGATGCCTGAAGTGCTGTG	0.577													68	280					0	0	0	0	A	197889215	G	A	197889215	2	1	357	1	0	0	0	0	0	0	0	1	8831	1277	45	2		2	LHX9	1	197889215	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4739033	197889215	51361406	67	67359											
LHX9	56956	broad.mit.edu	37	chr1	197890661	197890661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgcagctgagctacaCggagctggcggccaagagcg	9	4	14	14	4	0	2	0	1	0	1	1	3	1	3	3	3	5	4	3	3	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:197890661C>T	ENST00000367390.3	+	4	605	c.578C>T	c.(577-579)aCg>aTg	p.T193M	LHX9_ENST00000561173.1_Missense_Mutation_p.T208M|LHX9_ENST00000337020.2_Missense_Mutation_p.T202M|LHX9_ENST00000367391.1_Missense_Mutation_p.T193M|LHX9_ENST00000367387.4_Missense_Mutation_p.T202M	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	202	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CTGAGCTACACGGAGCTGGCG	0.657													8	49					0	0	0	0	T	197890661	C	T	197890661	3	4	357	1	0	0	0	0	1	0	0	0	8831	536	19	1	647	1	LHX9	1	197890661	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1446	197890661	51359960	68	67360											
CACNA1S	779	broad.mit.edu	37	chr1	201009439	201009439	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgtggggtgtctcctCatgaagagaccctggtgtgg	5	11	15	10	0	2	2	1	1	1	1	3	3	2	2	3	4	1	1	3	4	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:201009439C>A	ENST00000362061.3	-	43	5516	c.5290G>T	c.(5290-5292)Gag>Tag	p.E1764*	CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.E1745*|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1764					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGTGTCTCCTCATGAAGAGAC	0.582													5	23					1.23904e-05	1.27029e-05	1	0	A	201009439	C	A	201009439	4	1	357	1	0	0	0	0	0	1	0	0	2572	835	29	2	339	2	CACNA1S	1	201009439	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3118778	201009439	48241182	69	67361											
TNNT2	7139	broad.mit.edu	37	chr1	201337314	201337314	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccctggtctcctcggtctCagcctctgcttcagcatcct	3	13	8	17	1	4	0	2	0	3	0	8	0	5	0	4	2	4	2	4	2	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:201337314C>G	ENST00000509001.1	-	5	395	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	TNNT2_ENST00000367322.1_Missense_Mutation_p.E37Q|TNNT2_ENST00000458432.2_Missense_Mutation_p.E49Q|TNNT2_ENST00000236918.7_Missense_Mutation_p.E42Q|TNNT2_ENST00000360372.4_Missense_Mutation_p.E32Q|TNNT2_ENST00000421663.2_Missense_Mutation_p.E39Q|TNNT2_ENST00000367315.2_Missense_Mutation_p.E37Q|TNNT2_ENST00000367318.5_Missense_Mutation_p.E37Q|TNNT2_ENST00000367317.4_Missense_Mutation_p.E37Q|TNNT2_ENST00000367320.2_Missense_Mutation_p.E47Q	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	47					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCCTCGGTCTCAGCCTCTGCT	0.592													29	97					0	0	0	0	G	201337314	C	G	201337314	3	3	357	1	0	0	0	0	1	0	0	0	16425	835	29	2	808	2	TNNT2	1	201337314	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	327875	201337314	47913307	70	67362											
PHLDA3	23612	broad.mit.edu	37	chr1	201437834	201437834	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggacgcagcgcttccgCttccacagctgcagcagccc	7	6	12	16	3	0	1	0	1	0	0	2	2	2	2	3	1	5	6	3	1	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:201437834C>G	ENST00000367311.3	-	1	478	c.81G>C	c.(79-81)aaG>aaC	p.K27N	PHLDA3_ENST00000367309.1_Missense_Mutation_p.K27N	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	27	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						AGCGCTTCCGCTTCCACAGCT	0.726													4	16					0	0	0	0	G	201437834	C	G	201437834	3	3	357	1	0	0	0	0	1	0	0	0	11922	796	28	4	306	4	PHLDA3	1	201437834	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	100520	201437834	47812787	71	67363											
PPP1R12B	4660	broad.mit.edu	37	chr1	202407120	202407120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgctcctcttcaagccctCggatttctgctctactggac	6	13	7	15	2	4	0	1	0	3	0	7	2	5	2	2	2	3	2	2	2	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:202407120C>T	ENST00000406302.3	+	10	1579	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.R476W|PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R476W	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	476					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCAAGCCCTCGGATTTCTGC	0.473													27	84					0	0	0	0	T	202407120	C	T	202407120	3	4	357	1	0	0	0	0	1	0	0	0	12431	875	31	1	1464	1	PPP1R12B	1	202407120	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	969286	202407120	46843501	72	67364											
KDM5B	10765	broad.mit.edu	37	chr1	202698947	202698947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagggaatgagtttcagcaGaacgaactaattcatagcta	15	9	10	7	1	2	2	2	1	0	1	2	4	2	3	0	1	4	4	0	1	6	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:202698947G>A	ENST00000367265.3	-	26	5549	c.4385C>T	c.(4384-4386)tCt>tTt	p.S1462F	KDM5B_ENST00000367264.2_Missense_Mutation_p.S1498F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1462					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGTTTCAGCAGAACGAACTAA	0.478													32	127					0	0	0	0	A	202698947	G	A	202698947	3	1	357	1	0	0	0	0	1	0	0	0	8186	942	33	2	257	2	KDM5B	1	202698947	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	291827	202698947	46551674	73	67365											
LPGAT1	9926	broad.mit.edu	37	chr1	212002666	212002666	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggactccgtcctgtctttCtggggtgaaagaaaaattca	10	12	10	9	1	3	2	1	1	2	1	5	3	5	3	2	3	0	0	2	3	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:212002666C>G	ENST00000366997.4	-	2	200		c.e2-1		LPGAT1_ENST00000366996.1_Splice_Site|LPGAT1_ENST00000488600.1_Intron	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1						phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TCCTGTCTTTCTGGGGTGAAA	0.433													29	100					0	0	0	0	G	212002666	C	G	212002666	5	3	357	1	0	0	0	0	0	0	1	0	8978	927	32	2		2	LPGAT1	1	212002666	Splice_Site	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	9303719	212002666	37247955	74	67366											
ANGEL2	90806	broad.mit.edu	37	chr1	213186679	213186679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caactagaaatatgtctgttCcagcaacacctttgcagatt	13	12	6	10	0	1	2	0	0	1	2	2	2	2	2	2	0	4	3	2	0	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:213186679C>G	ENST00000366962.3	-	2	295	c.141G>C	c.(139-141)tgG>tgC	p.W47C	ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000540642.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	47										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TATGTCTGTTCCAGCAACACC	0.453													33	142					0	0	0	0	G	213186679	C	G	213186679	3	3	357	1	0	0	0	0	1	0	0	0	609	856	30	2	1525	2	ANGEL2	1	213186679	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1184013	213186679	36063942	75	67367											
USH2A	7399	broad.mit.edu	37	chr1	216260110	216260110	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcgggagccctcccagaaaGactcctgtgttatctccaat	9	9	9	14	2	1	2	0	0	1	2	4	3	3	3	4	1	1	1	4	1	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:216260110G>C	ENST00000366943.2	-	24	5324	c.4938C>G	c.(4936-4938)gtC>gtG	p.V1646V	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Silent_p.V1646V|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1646	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCCAGAAAGACTCCTGTGT	0.428										HNSCC(13;0.011)			7	27					0	0	0	0	C	216260110	G	C	216260110	2	2	357	1	0	0	0	0	0	0	0	1	17132	929	33	2		2	USH2A	1	216260110	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3073431	216260110	32990511	76	67368											
LYPLAL1	127018	broad.mit.edu	37	chr1	219347232	219347232	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgactggcagtggcatcagcGatggcggctgcgtcggggtc	5	8	18	10	4	1	1	1	1	0	0	3	2	1	1	0	6	2	3	0	6	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:219347232G>A	ENST00000366928.5	+	0	47				LYPLAL1_ENST00000366927.3_De_novo_Start_InFrame|RP11-135J2.4_ENST00000441331.1_RNA	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1							cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TGGCATCAGCGATGGCGGCTG	0.692													8	68					0	0	0	0	A	219347232	G	A	219347232	1	1	357	1	0	0	0	0	0	0	0	0	9183	1073	37	1		1	LYPLAL1	1	219347232	Translation_Start_Site	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3087122	219347232	29903389	77	67369											
OBSCN	84033	broad.mit.edu	37	chr1	228495222	228495222	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaaaaccgctgcctccctCagggtcacaggtgagtggtg	9	7	13	12	1	2	2	2	1	0	1	3	2	3	2	3	3	2	1	3	3	2	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:228495222C>G	ENST00000570156.2	+	57	15401	c.15327C>G	c.(15325-15327)ctC>ctG	p.L5109L	OBSCN_ENST00000366709.4_Silent_p.L1271L|OBSCN_ENST00000366707.4_Silent_p.L1786L|OBSCN_ENST00000422127.1_Silent_p.L4152L|OBSCN_ENST00000284548.11_Silent_p.L4152L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4152					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCCTCCCTCAGGGTCACAG	0.652													8	5					0	0	0	0	G	228495222	C	G	228495222	2	3	357	1	0	0	0	0	0	0	0	1	10883	813	29	2		2	OBSCN	1	228495222	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	9147990	228495222	20755399	78	67370											
OBSCN	84033	broad.mit.edu	37	chr1	228563713	228563713	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgtgtggccaggcggCagctggaccacactggcctc	5	7	14	15	1	0	0	0	0	0	0	2	1	1	1	4	5	1	3	4	5	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:228563713C>A	ENST00000570156.2	+	110	25736	c.25662C>A	c.(25660-25662)ggC>ggA	p.G8554G	OBSCN_ENST00000366707.4_Silent_p.G5231G|OBSCN_ENST00000422127.1_Silent_p.G7597G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7597					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCAGGCGGCAGCTGGACCA	0.637													12	104					2.27111e-07	2.34899e-07	1	0	A	228563713	C	A	228563713	2	1	357	1	0	0	0	0	0	0	0	1	10883	697	25	4		4	OBSCN	1	228563713	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	68491	228563713	20686908	79	67371											
TAF5L	27097	broad.mit.edu	37	chr1	229750160	229750160	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttcaggggaccatctgagtCcacgtactgccggcgtttga	7	10	12	12	3	2	2	1	2	1	0	3	3	3	3	3	3	2	2	3	3	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:229750160C>G	ENST00000366675.3	-	2	158	c.70G>C	c.(70-72)Gac>Cac	p.D24H	TAF5L_ENST00000366674.1_Missense_Mutation_p.D24H|TAF5L_ENST00000258281.2_Missense_Mutation_p.D24H|TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000366676.1_Missense_Mutation_p.D24H	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	24					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CCATCTGAGTCCACGTACTGC	0.567													15	69					0	0	0	0	G	229750160	C	G	229750160	3	3	357	1	0	0	0	0	1	0	0	0	15620	855	30	2	1721	2	TAF5L	1	229750160	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1186447	229750160	19500461	80	67372											
TTC13	79573	broad.mit.edu	37	chr1	231069590	231069590	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgcttcaaagcttctttGaaggattcaatagcttccta	10	16	6	9	0	4	1	2	1	2	0	5	2	5	2	1	1	3	3	1	1	5	8			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:231069590G>C	ENST00000366661.4	-	9	925	c.918C>G	c.(916-918)ttC>ttG	p.F306L	TTC13_ENST00000414259.1_Missense_Mutation_p.F253L|TTC13_ENST00000366662.4_Missense_Mutation_p.F253L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	306							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AAGCTTCTTTGAAGGATTCAA	0.303													11	54					0	0	0	0	C	231069590	G	C	231069590	3	2	357	1	0	0	0	0	1	0	0	0	16776	1281	45	2	1724	2	TTC13	1	231069590	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1319430	231069590	18181031	81	67373											
TRIM67	440730	broad.mit.edu	37	chr1	231351159	231351159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagtgccgactaacctGgggcggccaaagctgtcagg	9	7	15	10	2	1	0	1	0	0	0	1	2	1	1	3	5	3	1	3	5	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:231351159G>A	ENST00000444294.3	+	10	3177	c.2319G>A	c.(2317-2319)ctG>ctA	p.L773L	TRIM67_ENST00000449018.3_Silent_p.L713L|TRIM67_ENST00000366653.5_Silent_p.L775L|TRIM67_ENST00000366652.2_Intron	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	775	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CGACTAACCTGGGGCGGCCAA	0.592													7	18					0	0	0	0	A	231351159	G	A	231351159	2	1	357	1	0	0	0	0	0	0	0	1	16635	1335	47	4		4	TRIM67	1	231351159	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	281569	231351159	17899462	82	67374											
CHRM3	1131	broad.mit.edu	37	chr1	240071392	240071392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaatactttgttggaaagaGaactgtgcctccgggagagt	11	10	13	7	1	0	2	0	0	0	2	1	5	1	3	2	2	3	2	2	2	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:240071392G>C	ENST00000255380.4	+	5	1420	c.641G>C	c.(640-642)aGa>aCa	p.R214T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	214					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GTTGGAAAGAGAACTGTGCCT	0.493													41	157					0	0	0	0	C	240071392	G	C	240071392	3	2	357	1	0	0	0	0	1	0	0	0	3407	942	33	2	643	2	CHRM3	1	240071392	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	8720233	240071392	9179229	83	67375											
AHCTF1	25909	broad.mit.edu	37	chr1	247012940	247012940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctttccttggaacttctGacgctggagaaaataaaggc	11	12	10	8	1	1	2	0	1	1	1	2	4	2	3	1	3	2	2	1	3	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:247012940G>A	ENST00000366508.1	-	33	6609	c.6473C>T	c.(6472-6474)tCa>tTa	p.S2158L	AHCTF1_ENST00000391829.2_Missense_Mutation_p.S2123L|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S2132L|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2123	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGAACTTCTGACGCTGGAGA	0.413													23	80					0	0	0	0	A	247012940	G	A	247012940	3	1	357	1	0	0	0	0	1	0	0	0	408	1294	45	2	448	2	AHCTF1	1	247012940	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6941548	247012940	2237681	84	67376											
OR2T11	127077	broad.mit.edu	37	chr1	248790382	248790382	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcccggcagcctcactgttCaccagaagccccaggagggt	9	6	11	15	1	2	1	2	0	0	1	3	2	3	2	5	3	2	2	5	3	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:248790382C>T	ENST00000330803.2	-	1	109	c.48G>A	c.(46-48)gtG>gtA	p.V16V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTCACTGTTCACCAGAAGCC	0.517													21	87					0	0	0	0	T	248790382	C	T	248790382	2	4	357	1	0	0	0	0	0	0	0	1	11089	813	29	2		2	OR2T11	1	248790382	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1777442	248790382	460239	85	67377											
PDIA6	10130	broad.mit.edu	37	chr2	10942635	10942635	+	Missense_Mutation	SNP	A	A	T																															taatacttaccatggagcatAgaattctacaagccacaaac																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:10942635A>T	ENST00000404371.2	-	4	644	c.307T>A	c.(307-309)Tat>Aat	p.Y103N	PDIA6_ENST00000489662.1_5'UTR|PDIA6_ENST00000404824.2_Missense_Mutation_p.Y99N|PDIA6_ENST00000272227.3_Missense_Mutation_p.Y51N|PDIA6_ENST00000381611.4_Missense_Mutation_p.Y56N|PDIA6_ENST00000540494.1_Missense_Mutation_p.Y48N			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	51	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CATGGAGCATAGAATTCTACA	0.318													10	46					0	0	0	0	T	10942635	A	T	10942635	3	4	357	1	0	0	0	0	1	0	0	0	11743	420	15	5	1219	5	PDIA6	2	10942635	Missense_Mutation	SNP	A	TCGA-CV-A6K2-01A-11D-A31L-08		10942635	232256738	86	67378	826	2									
PDIA6	10130	broad.mit.edu	37	chr2	10942636	10942636	+	Silent	SNP	G	G	A																															aatacttaccatggagcataGaattctacaagccacaaact																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:10942636G>A	ENST00000404371.2	-	4	643	c.306C>T	c.(304-306)ttC>ttT	p.F102F	PDIA6_ENST00000489662.1_5'UTR|PDIA6_ENST00000404824.2_Silent_p.F98F|PDIA6_ENST00000272227.3_Silent_p.F50F|PDIA6_ENST00000381611.4_Silent_p.F55F|PDIA6_ENST00000540494.1_Silent_p.F47F			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	50	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ATGGAGCATAGAATTCTACAA	0.313													10	45					0	0	0	0	A	10942636	G	A	10942636	2	1	357	1	0	0	0	0	0	0	0	1	11743	933	33	2		2	PDIA6	2	10942636	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1	10942636	232256737	87	67379	826	2									
APOB	338	broad.mit.edu	37	chr2	21231384	21231384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaagctgcgatacctgcttCgtttgctgaggtggttccat	6	13	13	9	2	0	1	0	1	0	0	2	3	1	2	2	3	5	5	2	3	2	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:21231384C>T	ENST00000233242.1	-	26	8483	c.8356G>A	c.(8356-8358)Gaa>Aaa	p.E2786K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2786					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATACCTGCTTCGTTTGCTGAG	0.403													22	112					0	0	0	0	T	21231384	C	T	21231384	3	4	357	1	0	0	0	0	1	0	0	0	787	893	31	1	5351	1	APOB	2	21231384	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	10288748	21231384	221967989	88	67380											
IFT172	26160	broad.mit.edu	37	chr2	27702428	27702428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttcttgtaaatactccttCggaggcagcagtcaaactgt	10	13	9	9	1	2	0	1	0	1	0	4	1	3	1	1	2	3	4	1	2	4	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:27702428C>T	ENST00000260570.3	-	10	1056	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	IFT172_ENST00000359466.6_Missense_Mutation_p.R318Q|IFT172_ENST00000416524.2_Missense_Mutation_p.R297Q	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	318					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AATACTCCTTCGGAGGCAGCA	0.498													11	26					0	0	0	0	T	27702428	C	T	27702428	3	4	357	1	0	0	0	0	1	0	0	0	7610	884	31	1	4452	1	IFT172	2	27702428	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	6471044	27702428	215496945	89	67381											
EIF2AK2	5610	broad.mit.edu	37	chr2	37368770	37368770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttctgggcaattctattGataaggcctatgtaattccc	9	16	7	9	0	3	1	0	1	3	0	4	1	4	1	2	2	0	2	2	2	5	9			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:37368770G>C	ENST00000233057.4	-	5	637	c.315C>G	c.(313-315)atC>atG	p.I105M	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.I105M|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.I105M	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	105	DRBM 2.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CAATTCTATTGATAAGGCCTA	0.373													7	93					0	0	0	0	C	37368770	G	C	37368770	3	2	357	1	0	0	0	0	1	0	0	0	5033	1280	45	2	1392	2	EIF2AK2	2	37368770	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	9666342	37368770	205830603	90	67382											
PRKCE	5581	broad.mit.edu	37	chr2	46372238	46372238	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctatcttgcagggatttGaaactggacaacatccttct	10	12	9	10	0	2	1	0	1	2	0	3	3	3	3	2	3	3	1	2	3	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:46372238G>C	ENST00000306156.3	+	12	1926	c.1599G>C	c.(1597-1599)ttG>ttC	p.L533F		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	533	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GCAGGGATTTGAAACTGGACA	0.488													24	113					0	0	0	0	C	46372238	G	C	46372238	3	2	357	1	0	0	0	0	1	0	0	0	12591	1281	45	2	1645	2	PRKCE	2	46372238	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	9003468	46372238	196827135	91	67383											
NRXN1	9378	broad.mit.edu	37	chr2	51255055	51255055	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgttgcggaactggcggcgGatgcgcacgctgtgccaggc	5	7	18	11	5	0	0	0	0	0	0	0	2	0	2	1	5	4	3	1	5	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:51255055G>A	ENST00000404971.1	-	2	1696	c.357C>T	c.(355-357)atC>atT	p.I119I	NRXN1_ENST00000405472.3_Silent_p.I119I|NRXN1_ENST00000406316.2_Silent_p.I119I|NRXN1_ENST00000401669.2_Silent_p.I119I|NRXN1_ENST00000405581.1_Silent_p.I119I|NRXN1_ENST00000406859.3_Silent_p.I119I|NRXN1_ENST00000402717.3_Silent_p.I119I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	119	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTGGCGGCGGATGCGCACGC	0.667													8	28					0	0	0	0	A	51255055	G	A	51255055	2	1	357	1	0	0	0	0	0	0	0	1	10736	1164	41	2		2	NRXN1	2	51255055	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4882817	51255055	191944318	92	67384											
USP34	9736	broad.mit.edu	37	chr2	61524018	61524018	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctcccagacccgcctagAcagattttctgcatgaagat	11	10	8	12	1	1	5	0	1	1	4	2	5	2	5	3	0	2	2	3	0	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:61524018A>T	ENST00000398571.2	-	30	4247	c.4171T>A	c.(4171-4173)Tct>Act	p.S1391T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1391					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACCCGCCTAGACAGATTTTCT	0.388													19	104					0	0	0	0	T	61524018	A	T	61524018	3	4	357	1	0	0	0	0	1	0	0	0	17161	275	10	5	6673	5	USP34	2	61524018	Missense_Mutation	SNP	A	TCGA-CV-A6K2-01A-11D-A31L-08	10268963	61524018	181675355	93	67385											
SPRED2	200734	broad.mit.edu	37	chr2	65540893	65540893	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccggcggatgcaagttctCacggagtcgggcgcgtcctg	6	7	15	13	6	1	0	1	0	1	0	4	2	2	2	2	4	1	2	2	4	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:65540893C>G	ENST00000356388.4	-	6	1188	c.999G>C	c.(997-999)gtG>gtC	p.V333V	SPRED2_ENST00000443619.2_Silent_p.V330V	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	333	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TGCAAGTTCTCACGGAGTCGG	0.632													23	137					0	0	0	0	G	65540893	C	G	65540893	2	3	357	1	0	0	0	0	0	0	0	1	15183	813	29	2		2	SPRED2	2	65540893	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	4016875	65540893	177658480	94	67386											
ALMS1	7840	broad.mit.edu	37	chr2	73651783	73651783	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttcgtctgttgatgaactGaaaattcccaaagactgtga	13	13	8	7	1	1	5	0	4	1	1	3	5	2	5	1	0	1	1	1	0	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:73651783G>C	ENST00000264448.6	+	5	1101	c.990G>C	c.(988-990)ctG>ctC	p.L330L	ALMS1_ENST00000409009.1_Silent_p.L288L|ALMS1_ENST00000377715.1_Silent_p.L330L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	330					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTGATGAACTGAAAATTCCCA	0.403													5	34					0	0	0	0	C	73651783	G	C	73651783	2	2	357	1	0	0	0	0	0	0	0	1	535	1277	45	2		2	ALMS1	2	73651783	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	8110890	73651783	169547590	95	67387											
WBP1	23559	broad.mit.edu	37	chr2	74687791	74687791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatggggctgtcttccagtGaaggggacatcccataagta	10	9	12	10	0	1	1	0	1	1	0	3	2	3	2	3	4	0	2	3	4	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:74687791G>A	ENST00000393972.3	+	5	1098	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	WBP1_ENST00000233615.2_Missense_Mutation_p.E265K|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Missense_Mutation_p.E262K			Q96G27	WBP1_HUMAN	WW domain binding protein 1	265							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GTCTTCCAGTGAAGGGGACAT	0.567													4	32					0	0	0	0	A	74687791	G	A	74687791	3	1	357	1	0	0	0	0	1	0	0	0	17353	1291	45	2	807	2	WBP1	2	74687791	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1036008	74687791	168511582	96	67388											
SEMA4F	10505	broad.mit.edu	37	chr2	74902382	74902382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccgggaccacccactcatgGacaggccagtgtttccagct	8	8	10	15	1	1	0	1	0	0	0	3	2	3	2	5	3	1	2	5	3	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:74902382G>A	ENST00000357877.2	+	10	1392	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	SEMA4F_ENST00000473350.1_Intron|SEMA4F_ENST00000339773.5_Missense_Mutation_p.D260N	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	415	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CCCACTCATGGACAGGCCAGT	0.582											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	60					0	0	0	0	A	74902382	G	A	74902382	3	1	357	1	0	0	0	0	1	0	0	0	14122	1174	41	2	1281	2	SEMA4F	2	74902382	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	214591	74902382	168296991	97	67389											
RETSAT	54884	broad.mit.edu	37	chr2	85573134	85573134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttccccggcagtaggtgttCataggtgttgaacagtcctg	7	12	13	9	1	1	1	1	1	0	0	3	1	3	1	3	3	1	5	3	3	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:85573134C>T	ENST00000295802.4	-	6	1193	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	RETSAT_ENST00000263854.6_Missense_Mutation_p.E361K|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.E300K	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	361					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	AGTAGGTGTTCATAGGTGTTG	0.582													28	147					0	0	0	0	T	85573134	C	T	85573134	3	4	357	1	0	0	0	0	1	0	0	0	13320	835	29	2	775	2	RETSAT	2	85573134	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	10670752	85573134	157626239	98	67390											
CNNM4	26504	broad.mit.edu	37	chr2	97427634	97427634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgggctggctgtgggtGccaacaccatccttctcacc	7	9	11	14	0	1	0	1	0	1	0	3	1	2	0	4	3	2	2	4	3	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:97427634G>A	ENST00000377075.2	+	1	996	c.898G>A	c.(898-900)Gcc>Acc	p.A300T		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	300	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GGCTGTGGGTGCCAACACCAT	0.557													4	114					0	0	0	0	A	97427634	G	A	97427634	3	1	357	1	0	0	0	0	1	0	0	0	3645	1319	46	4	900	4	CNNM4	2	97427634	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	11854500	97427634	145771739	99	67391											
ZAP70	7535	broad.mit.edu	37	chr2	98354270	98354270	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtacgcacccgaatgcatCaacttccgcaagttctccag	10	9	8	14	3	2	0	1	0	1	0	4	1	3	0	3	1	3	5	3	1	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:98354270C>T	ENST00000264972.5	+	12	1748	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	ZAP70_ENST00000442208.1_Silent_p.I385I|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.I204I	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	511	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.I511I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCGAATGCATCAACTTCCGCA	0.637													44	205					0	0	0	0	T	98354270	C	T	98354270	2	4	357	1	0	0	0	0	0	0	0	1	17610	816	29	2		2	ZAP70	2	98354270	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	926636	98354270	144845103	100	67392											
ACOXL	55289	broad.mit.edu	37	chr2	111562899	111562899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattaggaacaagagtgcaaGattcaatgccatgctggcag	14	9	11	7	0	1	2	1	0	0	2	1	3	1	3	1	2	4	3	1	2	6	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:111562899G>A	ENST00000389811.4	+	9	904	c.680G>A	c.(679-681)aGa>aAa	p.R227K	ACOXL_ENST00000340561.4_Missense_Mutation_p.R227K|ACOXL_ENST00000439055.1_Missense_Mutation_p.R227K			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	227					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AAGAGTGCAAGATTCAATGCC	0.463													17	79					0	0	0	0	A	111562899	G	A	111562899	3	1	357	1	0	0	0	0	1	0	0	0	161	942	33	2	710	2	ACOXL	2	111562899	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	13208629	111562899	131636474	101	67393											
ZC3H6	376940	broad.mit.edu	37	chr2	113074098	113074098	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactcaggaatttattaatCagcacacagtggaacacaaa	17	9	7	8	0	2	1	2	1	0	0	2	3	2	3	0	2	2	1	0	2	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:113074098C>T	ENST00000409871.1	+	6	1200	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	ZC3H6_ENST00000343936.4_Nonsense_Mutation_p.Q267*	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	267							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ATTTATTAATCAGCACACAGT	0.313													4	23					0	0	0	0	T	113074098	C	T	113074098	4	4	357	1	0	0	0	0	0	1	0	0	17666	827	29	2	821	2	ZC3H6	2	113074098	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1511199	113074098	130125275	102	67394											
GLI2	2736	broad.mit.edu	37	chr2	121740432	121740432	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcggaccgcgccaagcaCcagaatcgcacccactccaa	11	3	8	19	4	0	1	0	0	0	1	3	2	1	2	6	1	1	2	6	1	3	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:121740432C>G	ENST00000452319.1	+	11	1719	c.1659C>G	c.(1657-1659)caC>caG	p.H553Q	GLI2_ENST00000361492.4_Missense_Mutation_p.H553Q|GLI2_ENST00000314490.11_Missense_Mutation_p.H225Q|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	553					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)				GCGCCAAGCACCAGAATCGCA	0.622													16	65					0	0	0	0	G	121740432	C	G	121740432	3	3	357	1	0	0	0	0	1	0	0	0	6489	506	18	4	1697	4	GLI2	2	121740432	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	8666334	121740432	121458941	103	67395											
MYO7B	4648	broad.mit.edu	37	chr2	128322843	128322843	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagaggactttggtgtcctCagtcccatgcaccccaactc	8	9	9	15	0	1	1	1	0	0	1	4	2	3	2	4	2	2	2	4	2	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:128322843C>G	ENST00000389524.4	+	4	221	c.168C>G	c.(166-168)ctC>ctG	p.L56L	MYO7B_ENST00000428314.1_Silent_p.L56L|MYO7B_ENST00000409816.2_Silent_p.L56L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	56						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TTGGTGTCCTCAGTCCCATGC	0.622													5	29					0	0	0	0	G	128322843	C	G	128322843	2	3	357	1	0	0	0	0	0	0	0	1	10153	813	29	2		2	MYO7B	2	128322843	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	6582411	128322843	114876530	104	67396											
GPR148	344561	broad.mit.edu	37	chr2	131487025	131487025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcagacctggcctacattCtcctccacatgctcatctcc	7	12	4	18	0	4	1	2	0	3	1	8	1	5	1	5	1	2	1	5	1	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:131487025C>T	ENST00000309926.4	+	1	383	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	101						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGCCTACATTCTCCTCCACAT	0.637													14	58					0	0	0	0	T	131487025	C	T	131487025	3	4	357	1	0	0	0	0	1	0	0	0	6702	913	32	2	303	2	GPR148	2	131487025	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3164182	131487025	111712348	105	67397											
CCDC74A	90557	broad.mit.edu	37	chr2	132288372	132288372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcctctccatgtcaagcttCcagtctgtcaagtccatctc	8	12	6	15	0	5	0	2	0	3	0	9	0	7	0	4	0	2	1	4	0	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:132288372C>G	ENST00000467992.2	+	1	1136	c.822C>G	c.(820-822)ttC>ttG	p.F274L	CCDC74A_ENST00000409856.3_Missense_Mutation_p.F106L|CCDC74A_ENST00000295171.6_Missense_Mutation_p.F172L			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	172										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGTCAAGCTTCCAGTCTGTCA	0.637													11	56					0	0	0	0	G	132288372	C	G	132288372	3	3	357	1	0	0	0	0	1	0	0	0	2874	854	30	2	526	2	CCDC74A	2	132288372	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	801347	132288372	110911001	106	67398											
GPR39	2863	broad.mit.edu	37	chr2	133402678	133402678	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcgtgtctgcccagggctGattgttgtgacattggccgt	4	13	14	10	2	1	2	0	2	1	0	2	2	1	2	2	2	1	3	2	2	0	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:133402678G>A	ENST00000329321.3	+	2	1330	c.861G>A	c.(859-861)ctG>ctA	p.L287L	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	287						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCCAGGGCTGATTGTTGTGA	0.502													11	49					0	0	0	0	A	133402678	G	A	133402678	2	1	357	1	0	0	0	0	0	0	0	1	6742	1277	45	2		2	GPR39	2	133402678	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1114306	133402678	109796695	107	67399											
KIF5C	3800	broad.mit.edu	37	chr2	149803513	149803513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgggaaactttatttGgttgatttggctgggagcga	8	14	14	5	1	1	1	1	1	0	0	1	4	1	3	0	4	2	2	0	4	2	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:149803513G>T	ENST00000435030.1	+	8	1058	c.690G>T	c.(688-690)ttG>ttT	p.L230F	KIF5C_ENST00000414838.2_Missense_Mutation_p.L135F			O60282	KIF5C_HUMAN	kinesin family member 5C	230	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AACTTTATTTGGTTGATTTGG	0.308													5	19					1.23904e-05	1.27029e-05	1	0	T	149803513	G	T	149803513	3	4	357	1	0	0	0	0	1	0	0	0	8358	1339	47	4	642	4	KIF5C	2	149803513	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	16400835	149803513	93395860	108	67400											
SLC4A10	57282	broad.mit.edu	37	chr2	162813634	162813634	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagcctaaaactggaatcaGaatgctcagctccaggagaa	16	7	9	9	0	2	2	2	0	0	2	3	4	3	3	2	2	4	2	2	2	6	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:162813634G>C	ENST00000375514.5	+	20	2907	c.2620G>C	c.(2620-2622)Gaa>Caa	p.E874Q	SLC4A10_ENST00000446997.1_Missense_Mutation_p.E893Q|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E893Q|SLC4A10_ENST00000415876.2_Missense_Mutation_p.E863Q|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E863Q	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	893					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACTGGAATCAGAATGCTCAGC	0.473													14	28					0	0	0	0	C	162813634	G	C	162813634	3	2	357	1	0	0	0	0	1	0	0	0	14739	943	33	2	2840	2	SLC4A10	2	162813634	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	13010121	162813634	80385739	109	67401											
KCNH7	90134	broad.mit.edu	37	chr2	163302755	163302755	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctacaagaatagccacattCtcgtcttttctgttcttctc	8	16	5	12	1	5	1	0	0	5	1	7	1	5	1	1	0	2	2	1	0	4	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:163302755C>G	ENST00000332142.5	-	7	1426	c.1327G>C	c.(1327-1329)Gaa>Caa	p.E443Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.E436Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	443					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.E436Q(1)|p.E443Q(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TAGCCACATTCTCGTCTTTTC	0.378													7	51					0	0	0	0	G	163302755	C	G	163302755	3	3	357	1	0	0	0	0	1	0	0	0	8090	922	32	2	2369	2	KCNH7	2	163302755	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	489121	163302755	79896618	110	67402											
GRB14	2888	broad.mit.edu	37	chr2	165365022	165365022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgctcttcttctgcacaGagcattttcaggtctcgggg	5	14	10	12	1	6	1	1	0	5	1	7	1	6	1	0	3	3	3	0	3	0	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:165365022G>A	ENST00000263915.3	-	8	1504	c.966C>T	c.(964-966)ctC>ctT	p.L322L	GRB14_ENST00000543549.1_Silent_p.L235L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	322	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTTCTGCACAGAGCATTTTCA	0.473													11	43					0	0	0	0	A	165365022	G	A	165365022	2	1	357	1	0	0	0	0	0	0	0	1	6807	929	33	2		2	GRB14	2	165365022	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2062267	165365022	77834351	111	67403											
WIPF1	7456	broad.mit.edu	37	chr2	175431795	175431795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaccttggcagaaatactCactccggctttcgtttcttg	10	13	7	11	2	2	1	1	0	1	1	4	1	3	1	2	2	2	3	2	2	4	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:175431795C>T	ENST00000409891.1	-	7	1661	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	WIPF1_ENST00000359761.3_Intron|WIPF1_ENST00000392546.2_Intron|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Intron|WIPF1_ENST00000392547.2_Intron			O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	0					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CAGAAATACTCACTCCGGCTT	0.473													5	27					0	0	0	0	T	175431795	C	T	175431795	3	4	357	1	0	0	0	0	1	0	0	0	17463	841	29	2		2	WIPF1	2	175431795	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	10066773	175431795	67767578	112	67404											
MTX2	10651	broad.mit.edu	37	chr2	177194099	177194099	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggcctatcaaaaacagtGggaagtcaaacgtaagatga	16	9	10	6	1	2	2	2	1	0	1	2	3	2	3	1	2	2	1	1	2	6	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:177194099G>A	ENST00000392529.2	+	9	863	c.458G>A	c.(457-459)tGg>tAg	p.W153*	MTX2_ENST00000249442.6_Nonsense_Mutation_p.W163*|MTX2_ENST00000443241.1_Nonsense_Mutation_p.W107*			O75431	MTX2_HUMAN	metaxin 2	163					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			CAAAAACAGTGGGAAGTCAAA	0.393													6	65					0	0	0	0	A	177194099	G	A	177194099	4	1	357	1	0	0	0	0	0	1	0	0	10038	1357	47	4	518	4	MTX2	2	177194099	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1762304	177194099	66005274	113	67405											
FKBP7	51661	broad.mit.edu	37	chr2	179334402	179334402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctttagagagctgcctgtCattgtccatgtctatttgtt	6	17	10	8	0	2	1	1	0	1	1	3	2	3	1	2	1	2	3	2	1	2	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:179334402C>T	ENST00000424785.2	-	3	542	c.484G>A	c.(484-486)Gac>Aac	p.D162N	FKBP7_ENST00000434643.2_Missense_Mutation_p.D161N|FKBP7_ENST00000464248.1_Intron	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	199	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AGCTGCCTGTCATTGTCCATG	0.358													11	140					0	0	0	0	T	179334402	C	T	179334402	3	4	357	1	0	0	0	0	1	0	0	0	5958	826	29	2	192	2	FKBP7	2	179334402	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2140303	179334402	63864971	114	67406											
TTN	7273	broad.mit.edu	37	chr2	179536920	179536920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacttctgcttctactacttCtaattctagtctttctttta	7	21	2	11	0	6	0	0	0	6	0	6	0	6	0	0	0	3	1	0	0	5	11			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:179536920C>T	ENST00000589042.1	-	155	35229	c.35005G>A	c.(35005-35007)Gaa>Aaa	p.E11669K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11295K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10368K|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11535	Glu-rich.|Pro-rich.						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)			tctactacttctaattctagt	0.363													4	7					0	0	0	0	T	179536920	C	T	179536920	3	4	357	1	0	0	0	0	1	0	0	0	16831	922	32	2	69535	2	TTN	2	179536920	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	202518	179536920	63662453	115	67407											
TTN	7273	broad.mit.edu	37	chr2	179587394	179587394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatatcatcaccttgaattCtgaacacagtcttagaagaa	17	11	5	8	0	4	4	2	2	2	2	4	4	4	4	1	0	1	0	1	0	7	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:179587394C>T	ENST00000589042.1	-	76	22456	c.22232G>A	c.(22231-22233)aGa>aAa	p.R7411K	TTN_ENST00000591111.1_Missense_Mutation_p.R7094K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6167K|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7094	Ig-like 56.						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)			ACCTTGAATTCTGAACACAGT	0.323													4	28					0	0	0	0	T	179587394	C	T	179587394	3	4	357	1	0	0	0	0	1	0	0	0	16831	913	32	2	82445	2	TTN	2	179587394	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	50474	179587394	63611979	116	67408											
TTN	7273	broad.mit.edu	37	chr2	179612932	179612932	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttggaagtagggcacatGattcactatagatttcttca	12	13	10	6	0	3	2	2	1	1	1	3	3	3	3	0	3	0	3	0	3	4	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:179612932G>T	ENST00000360870.5	-	46	14417	c.14195C>A	c.(14194-14196)tCa>tAa	p.S4732*	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	843	Ig-like 27.						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)			TAGGGCACATGATTCACTATA	0.353													6	40					8.12818e-05	8.29678e-05	1	0	T	179612932	G	T	179612932	4	4	357	1	0	0	0	0	0	1	0	0	16831	1294	45	2	96102	2	TTN	2	179612932	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	25538	179612932	63586441	117	67409											
PDE1A	5136	broad.mit.edu	37	chr2	183095807	183095807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataaacttcagactatgctCtccacttgcttcatttaggg	10	14	6	11	0	3	1	2	0	1	1	4	1	3	1	1	1	3	2	1	1	4	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:183095807C>T	ENST00000435564.1	-	5	717	c.517G>A	c.(517-519)Gag>Aag	p.E173K	PDE1A_ENST00000456212.1_Missense_Mutation_p.E173K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E157K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E173K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E173K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E139K|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Missense_Mutation_p.E173K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E69K|PDE1A_ENST00000351439.5_Missense_Mutation_p.E157K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	173					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AGACTATGCTCTCCACTTGCT	0.338													24	58					0	0	0	0	T	183095807	C	T	183095807	3	4	357	1	0	0	0	0	1	0	0	0	11704	922	32	2	1208	2	PDE1A	2	183095807	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3482875	183095807	60103566	118	67410											
FSIP2	401024	broad.mit.edu	37	chr2	186678741	186678741	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgcctgaaacagcctcttCatcttgggaggaaaagcccc	11	8	10	12	0	3	1	1	1	2	0	3	4	3	3	4	2	4	0	4	2	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:186678741C>G	ENST00000343098.5	+	18	20564	c.20564C>G	c.(20563-20565)tCa>tGa	p.S6855*	FSIP2_ENST00000424728.1_Nonsense_Mutation_p.S6766*	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACAGCCTCTTCATCTTGGGAG	0.448													13	61					0	0	0	0	G	186678741	C	G	186678741	4	3	357	1	0	0	0	0	0	1	0	0	6123	838	29	2	20634	2	FSIP2	2	186678741	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3582934	186678741	56520632	119	67411											
FAM171B	165215	broad.mit.edu	37	chr2	187627362	187627362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctttaaggcacatcctaGatggagggagtggagtgatc	11	9	14	7	0	0	2	0	1	0	1	2	5	1	5	1	4	1	2	1	4	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:187627362G>A	ENST00000304698.5	+	8	2496	c.2293G>A	c.(2293-2295)Gat>Aat	p.D765N		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	765						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCACATCCTAGATGGAGGGAG	0.488													26	42					0	0	0	0	A	187627362	G	A	187627362	3	1	357	1	0	0	0	0	1	0	0	0	5532	942	33	2	2323	2	FAM171B	2	187627362	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	948621	187627362	55572011	120	67412											
NAB1	4664	broad.mit.edu	37	chr2	191537844	191537844	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggtcaaaatgtggagaaaGagatgaattatccccaaaga	18	8	10	5	0	1	4	1	1	0	3	2	6	2	4	2	2	0	0	2	2	7	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:191537844G>C	ENST00000337386.5	+	6	1432	c.971G>C	c.(970-972)aGa>aCa	p.R324T	NAB1_ENST00000409581.1_Missense_Mutation_p.R324T|NAB1_ENST00000409641.1_Missense_Mutation_p.R324T|NAB1_ENST00000484774.1_Intron|NAB1_ENST00000545490.1_Missense_Mutation_p.R94T|NAB1_ENST00000357215.5_Missense_Mutation_p.R324T	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	324	Necessary for nuclear localization (By similarity).				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			TGTGGAGAAAGAGATGAATTA	0.323													10	55					0	0	0	0	C	191537844	G	C	191537844	3	2	357	1	0	0	0	0	1	0	0	0	10201	942	33	2	981	2	NAB1	2	191537844	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3910482	191537844	51661529	121	67413											
MYO1B	4430	broad.mit.edu	37	chr2	192225432	192225432	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgttctatcagctgctctCtggtgcctctgaagagctcc	5	14	10	12	0	4	2	1	1	3	1	6	2	5	2	2	1	4	4	2	1	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:192225432C>G	ENST00000392318.3	+	8	885	c.638C>G	c.(637-639)tCt>tGt	p.S213C	MYO1B_ENST00000304164.4_Missense_Mutation_p.S213C|MYO1B_ENST00000392316.1_Missense_Mutation_p.S213C|MYO1B_ENST00000339514.4_Missense_Mutation_p.S213C	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	213	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.S213C(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CAGCTGCTCTCTGGTGCCTCT	0.413													38	102					0	0	0	0	G	192225432	C	G	192225432	3	3	357	1	0	0	0	0	1	0	0	0	10139	913	32	2	664	2	MYO1B	2	192225432	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	687588	192225432	50973941	122	67414											
MYO1B	4430	broad.mit.edu	37	chr2	192225454	192225454	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgcctctgaagagctcctCagtaagtctctgtttctatg	7	14	10	10	0	4	2	1	1	3	1	6	2	5	2	2	1	2	3	2	1	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:192225454C>T	ENST00000392318.3	+	8	907	c.661_splice	c.e8+1	p.L220_splice	MYO1B_ENST00000304164.4_Splice_Site_p.L220_splice|MYO1B_ENST00000392316.1_Splice_Site_p.L220_splice|MYO1B_ENST00000339514.4_Splice_Site_p.L220_splice	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	220	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AAGAGCTCCTCAGTAAGTCTC	0.453													26	72					0	0	0	0	T	192225454	C	T	192225454	5	4	357	1	0	0	0	0	0	0	1	0	10139	840	29	2	686	2	MYO1B	2	192225454	Splice_Site	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	22	192225454	50973919	123	67415											
COQ10B	80219	broad.mit.edu	37	chr2	198318314	198318314	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggactggtcatacggccttGagaagggtagtctcgggatg	8	9	16	8	3	2	1	1	1	1	1	3	4	2	3	1	5	1	1	1	5	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:198318314G>A	ENST00000263960.2	+	1	168	c.30G>A	c.(28-30)ttG>ttA	p.L10L	COQ10B_ENST00000409398.1_Silent_p.L10L	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	10						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATACGGCCTTGAGAAGGGTAG	0.682													10	82					0	0	0	0	A	198318314	G	A	198318314	2	1	357	1	0	0	0	0	0	0	0	1	3774	1281	45	2		2	COQ10B	2	198318314	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6092860	198318314	44881059	124	67416											
PLCL1	5334	broad.mit.edu	37	chr2	198949573	198949573	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggctgtcgaagcgttgaactCgatgtaagtgatggttcaga	10	11	14	6	3	1	3	1	2	0	1	3	5	1	3	0	2	2	4	0	2	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:198949573C>G	ENST00000428675.1	+	2	1730	c.1332C>G	c.(1330-1332)ctC>ctG	p.L444L	PLCL1_ENST00000437704.2_Silent_p.L346L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	444	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.L346L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCGTTGAACTCGATGTAAGTG	0.398													11	35					0	0	0	0	G	198949573	C	G	198949573	2	3	357	1	0	0	0	0	0	0	0	1	12111	871	31	3		3	PLCL1	2	198949573	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	631259	198949573	44249800	125	67417											
CASP8	841	broad.mit.edu	37	chr2	202131323	202131323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaggaagcaagaacccatCaaggatgccttgatgttatt	15	9	9	8	0	1	2	1	1	0	1	1	4	1	4	2	2	3	2	2	2	6	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:202131323C>G	ENST00000358485.4	+	2	487	c.291C>G	c.(289-291)atC>atG	p.I97M	CASP8_ENST00000323492.7_Missense_Mutation_p.I38M|CASP8_ENST00000432109.2_Missense_Mutation_p.I38M|CASP8_ENST00000264274.9_Missense_Mutation_p.I38M|CASP8_ENST00000264275.5_Missense_Mutation_p.I38M|CASP8_ENST00000392258.3_Missense_Mutation_p.I38M|CASP8_ENST00000392259.2_Missense_Mutation_p.I38M|CASP8_ENST00000392266.3_Missense_Mutation_p.I38M	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	38					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAGAACCCATCAAGGATGCCT	0.458										HNSCC(4;0.00038)			16	42					0	0	0	0	G	202131323	C	G	202131323	3	3	357	1	0	0	0	0	1	0	0	0	2702	816	29	2	297	2	CASP8	2	202131323	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3181750	202131323	41068050	126	67418											
CASP8	841	broad.mit.edu	37	chr2	202131498	202131498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagacaccaggcagggctCaaatttctgcctacaggtgg	10	9	11	11	0	3	1	2	0	1	1	3	1	3	1	2	4	2	2	2	4	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:202131498C>G	ENST00000358485.4	+	2	662	c.466C>G	c.(466-468)Caa>Gaa	p.Q156E	CASP8_ENST00000323492.7_Missense_Mutation_p.Q97E|CASP8_ENST00000432109.2_Missense_Mutation_p.Q97E|CASP8_ENST00000264274.9_Missense_Mutation_p.Q97E|CASP8_ENST00000264275.5_Missense_Mutation_p.Q97E|CASP8_ENST00000392258.3_Missense_Mutation_p.Q97E|CASP8_ENST00000392259.2_Missense_Mutation_p.Q97E|CASP8_ENST00000392266.3_Missense_Mutation_p.Q97E	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	97	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGCAGGGCTCAAATTTCTGC	0.488										HNSCC(4;0.00038)			7	29					0	0	0	0	G	202131498	C	G	202131498	3	3	357	1	0	0	0	0	1	0	0	0	2702	827	29	2	472	2	CASP8	2	202131498	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	175	202131498	41067875	127	67419											
CASP8	841	broad.mit.edu	37	chr2	202151261	202151261	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagaaaaacatggggaaaCagatgcctcagcctactttc	16	7	8	10	0	1	2	1	0	0	2	2	3	1	3	2	2	5	0	2	2	5	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:202151261C>T	ENST00000358485.4	+	9	1757	c.1561C>T	c.(1561-1563)Cag>Tag	p.Q521*	CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q447*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q462*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q378*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q479*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	462					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CATGGGGAAACAGATGCCTCA	0.358										HNSCC(4;0.00038)			10	62					0	0	0	0	T	202151261	C	T	202151261	4	4	357	1	0	0	0	0	0	1	0	0	2702	479	17	4	1695	4	CASP8	2	202151261	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	19763	202151261	41048112	128	67420											
FN1	2335	broad.mit.edu	37	chr2	216299457	216299457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agttaaaacctcggcttcctCcataacaagtacaaaccaac	16	8	4	13	1	0	0	0	0	0	0	3	0	2	0	4	1	5	3	4	1	7	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:216299457C>A	ENST00000354785.4	-	2	608	c.239G>T	c.(238-240)gGa>gTa	p.G80V	FN1_ENST00000426059.1_Missense_Mutation_p.G80V|FN1_ENST00000345488.5_Missense_Mutation_p.G80V|FN1_ENST00000357009.2_Missense_Mutation_p.G80V|FN1_ENST00000356005.4_Missense_Mutation_p.G80V|FN1_ENST00000336916.4_Missense_Mutation_p.G80V|FN1_ENST00000346544.3_Missense_Mutation_p.G80V|FN1_ENST00000323926.6_Missense_Mutation_p.G80V|FN1_ENST00000446046.1_Missense_Mutation_p.G80V|FN1_ENST00000443816.1_Missense_Mutation_p.G80V|FN1_ENST00000432072.2_Missense_Mutation_p.G80V|FN1_ENST00000357867.4_Missense_Mutation_p.G80V|FN1_ENST00000421182.1_Missense_Mutation_p.G80V|FN1_ENST00000359671.1_Missense_Mutation_p.G80V			P02751	FINC_HUMAN	fibronectin 1	80	Fibrin- and heparin-binding 1.|Fibronectin type-I 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGGCTTCCTCCATAACAAGT	0.403													21	99					0.000295444	0.000300587	1	0	A	216299457	C	A	216299457	3	1	357	1	0	0	0	0	1	0	0	0	6007	855	30	2	7407	2	FN1	2	216299457	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	14148196	216299457	26899916	129	67421											
CTDSP1	58190	broad.mit.edu	37	chr2	219267126	219267126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgatggggtggtccacCaggtgagggccaggaagagg	10	6	19	6	0	0	4	0	2	0	2	1	5	1	5	3	7	0	0	3	7	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:219267126C>G	ENST00000273062.2	+	4	712	c.376C>G	c.(376-378)Cag>Gag	p.Q126E	CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.Q125E	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	126	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGTCCACCAGGTGAGGGC	0.607													6	86					0	0	0	0	G	219267126	C	G	219267126	3	3	357	1	0	0	0	0	1	0	0	0	4035	595	21	4	390	4	CTDSP1	2	219267126	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2967669	219267126	23932247	130	67422											
VIL1	7429	broad.mit.edu	37	chr2	219289018	219289018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggccatgcagatggtgcctGttccttccagcacctttgga	7	11	11	12	0	0	1	0	0	0	1	2	2	2	2	5	3	3	3	5	3	0	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:219289018G>T	ENST00000248444.5	+	3	182	c.94G>T	c.(94-96)Gtt>Ttt	p.V32F	VIL1_ENST00000440053.1_Missense_Mutation_p.V32F|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	32	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGGTGCCTGTTCCTTCCAG	0.617													13	55					2.32078e-09	2.4191e-09	1	0	T	219289018	G	T	219289018	3	4	357	1	0	0	0	0	1	0	0	0	17260	1377	48	4	100	4	VIL1	2	219289018	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	21892	219289018	23910355	131	67423											
CCDC108	255101	broad.mit.edu	37	chr2	219890755	219890755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgcttaccttggggacatCtagggaatactgggggatgt	9	10	14	8	1	1	0	0	0	1	0	1	3	1	3	1	5	2	1	1	5	4	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:219890755C>T	ENST00000341552.5	-	14	2421	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N	CCDC108_ENST00000453220.1_Missense_Mutation_p.D780N|CCDC108_ENST00000441968.1_Missense_Mutation_p.D780N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	780						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGGGACATCTAGGGAATAC	0.612													7	58					0	0	0	0	T	219890755	C	T	219890755	3	4	357	1	0	0	0	0	1	0	0	0	2768	913	32	2	3527	2	CCDC108	2	219890755	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	601737	219890755	23308618	132	67424											
FARSB	10056	broad.mit.edu	37	chr2	223497946	223497946	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgggaggcattgaaaggacGacaccattgctatcatagat	14	9	11	7	1	1	2	1	1	0	1	1	5	1	4	1	3	1	2	1	3	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:223497946G>A	ENST00000281828.6	-	7	950	c.687C>T	c.(685-687)gtC>gtT	p.V229V	FARSB_ENST00000536361.1_Silent_p.V130V	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	229					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTGAAAGGACGACACCATTGC	0.343													5	85					0	0	0	0	A	223497946	G	A	223497946	2	1	357	1	0	0	0	0	0	0	0	1	5725	1045	37	1		1	FARSB	2	223497946	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3607191	223497946	19701427	133	67425											
SP110	3431	broad.mit.edu	37	chr2	231079776	231079776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcctctccagttgggtgaGaatgttgtgcaccactctgg	7	12	12	10	0	2	1	0	1	2	1	4	2	3	1	3	2	1	3	3	2	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:231079776G>C	ENST00000258381.6	-	3	282	c.205C>G	c.(205-207)Ctc>Gtc	p.L69V	SP110_ENST00000392048.3_Missense_Mutation_p.L69V|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000540870.1_Missense_Mutation_p.L75V|SP110_ENST00000258382.5_Missense_Mutation_p.L69V|SP110_ENST00000358662.4_Missense_Mutation_p.L69V	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	69	HSR.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGTTGGGTGAGAATGTTGTGC	0.388													4	71					0	0	0	0	C	231079776	G	C	231079776	3	2	357	1	0	0	0	0	1	0	0	0	15049	942	33	2	2068	2	SP110	2	231079776	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	7581830	231079776	12119597	134	67426											
TRPM8	79054	broad.mit.edu	37	chr2	234905030	234905030	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggaagttccagaggtacttCctggtgcaggagtactgcag	9	10	14	8	0	0	1	0	0	0	1	2	3	2	3	2	4	4	5	2	4	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:234905030C>T	ENST00000324695.4	+	22	3040	c.3000C>T	c.(2998-3000)ttC>ttT	p.F1000F	TRPM8_ENST00000433712.2_Silent_p.F578F	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1000						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGAGGTACTTCCTGGTGCAGG	0.537													18	70					0	0	0	0	T	234905030	C	T	234905030	2	4	357	1	0	0	0	0	0	0	0	1	16687	854	30	2		2	TRPM8	2	234905030	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3825254	234905030	8294343	135	67427											
ANKMY1	51281	broad.mit.edu	37	chr2	241465732	241465732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggatcctacaaatccattCgtggttcccttcctcagcct	8	12	6	15	1	1	0	1	0	0	0	6	1	5	1	5	2	2	1	5	2	2	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:241465732C>T	ENST00000391987.1	-	6	1183	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.E273K|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.E362K|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000462004.1_5'UTR			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	273							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CAAATCCATTCGTGGTTCCCT	0.572													13	50					0	0	0	0	T	241465732	C	T	241465732	3	4	357	1	0	0	0	0	1	0	0	0	634	893	31	1	2060	1	ANKMY1	2	241465732	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	6560702	241465732	1733641	136	67428											
MTERFD2	130916	broad.mit.edu	37	chr2	242039081	242039081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaggacccttgtaccacagGagtcccctgcttctcaagga	10	8	9	14	0	1	0	1	0	1	0	3	3	2	3	4	3	2	2	4	3	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:242039081G>T	ENST00000391980.2	-	2	308	c.250C>A	c.(250-252)Cct>Act	p.P84T	MTERFD2_ENST00000495694.1_Missense_Mutation_p.P84T|MTERFD2_ENST00000407095.3_Missense_Mutation_p.P84T|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	84										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TGTACCACAGGAGTCCCCTGC	0.493													29	72					2.2171e-23	2.36373e-23	1	0	T	242039081	G	T	242039081	3	4	357	1	0	0	0	0	1	0	0	0	9990	1174	41	2	907	2	MTERFD2	2	242039081	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	573349	242039081	1160292	137	67429											
HDLBP	3069	broad.mit.edu	37	chr2	242202142	242202142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacctgagtctgcagtctaGcaacaatgtccttccgagct	9	10	8	14	1	2	1	0	1	2	0	4	2	4	1	4	0	4	3	4	0	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:242202142G>A	ENST00000391975.1	-	5	661	c.434C>T	c.(433-435)gCt>gTt	p.A145V	HDLBP_ENST00000427183.2_Missense_Mutation_p.A181V|HDLBP_ENST00000391976.2_Missense_Mutation_p.A145V|HDLBP_ENST00000310931.4_Missense_Mutation_p.A145V	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	145					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTGCAGTCTAGCAACAATGTC	0.547													13	69					0	0	0	0	A	242202142	G	A	242202142	3	1	357	1	0	0	0	0	1	0	0	0	7075	971	34	4	3468	4	HDLBP	2	242202142	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	163061	242202142	997231	138	67430											
THUMPD3	25917	broad.mit.edu	37	chr3	9426271	9426271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgggtgaacgttggtggtCttcgtgctgcagtttacgtt	4	16	14	7	3	2	1	0	1	2	0	3	1	2	1	0	3	4	5	0	3	2	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:9426271C>T	ENST00000345094.3	+	10	1757	c.1423C>T	c.(1423-1425)Ctt>Ttt	p.L475F	THUMPD3_ENST00000515662.2_Missense_Mutation_p.L475F|THUMPD3_ENST00000452837.2_Missense_Mutation_p.L475F|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	475							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		CGTTGGTGGTCTTCGTGCTGC	0.438													30	163					0	0	0	0	T	9426271	C	T	9426271	3	4	357	1	0	0	0	0	1	0	0	0	15978	913	32	2	1457	2	THUMPD3	3	9426271	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08		9426271	188596159	139	67431											
THUMPD3	25917	broad.mit.edu	37	chr3	9426356	9426356	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggagaaagaggaactctttGgcaatgcaaagaatgaagat	17	7	12	5	1	1	5	0	1	1	4	1	7	1	6	0	3	2	2	0	3	6	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:9426356G>A	ENST00000345094.3	+	10	1842	c.1508G>A	c.(1507-1509)tGg>tAg	p.W503*	THUMPD3_ENST00000515662.2_Nonsense_Mutation_p.W503*|THUMPD3_ENST00000452837.2_Nonsense_Mutation_p.W503*|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	503							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GGAACTCTTTGGCAATGCAAA	0.398													16	99					0	0	0	0	A	9426356	G	A	9426356	4	1	357	1	0	0	0	0	0	1	0	0	15978	1357	47	4	1542	4	THUMPD3	3	9426356	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	85	9426356	188596074	140	67432											
FANCD2	2177	broad.mit.edu	37	chr3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catttctgaagcaatgtatgCcgctcctagacttcagtttt	9	15	7	10	1	2	2	1	1	1	1	3	2	3	2	2	0	2	4	2	0	4	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:10136015C>T	ENST00000287647.3	+	40	4024	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAATGTATGCCGCTCCTAGA	0.458			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	346					0	0	0	0	T	10136015	C	T	10136015	3	4	357	1	0	0	0	0	1	0	0	0	5710	739	26	4	4085	4	FANCD2	3	10136015	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	709659	10136015	187886415	141	67433											
RPL32	6161	broad.mit.edu	37	chr3	12880876	12880876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catcagcagcacttccagctCcttgacgttgtggaccagga	9	9	10	13	1	1	1	1	1	0	0	3	3	3	3	3	2	3	4	3	2	0	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:12880876C>G	ENST00000429711.2	-	3	349	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	RPL32_ENST00000396957.1_Missense_Mutation_p.E84Q|RPL32_ENST00000435983.1_Missense_Mutation_p.E84Q|RPL32_ENST00000273223.6_Missense_Mutation_p.E102Q|RPL32_ENST00000396953.2_Missense_Mutation_p.E84Q	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	84					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACTTCCAGCTCCTTGACGTTG	0.498													39	137					0	0	0	0	G	12880876	C	G	12880876	3	3	357	1	0	0	0	0	1	0	0	0	13667	864	30	2	165	2	RPL32	3	12880876	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2744861	12880876	185141554	142	67434											
KCNH8	131096	broad.mit.edu	37	chr3	19575324	19575324	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccacattcagattctacGttgacgcctctgcagtccat	8	13	6	14	2	4	2	1	1	3	1	6	2	5	2	3	0	2	2	3	0	1	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:19575324G>A	ENST00000328405.2	+	16	3323	c.3057G>A	c.(3055-3057)acG>acA	p.T1019T		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1019	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGATTCTACGTTGACGCCTC	0.458													35	180					0	0	0	0	A	19575324	G	A	19575324	2	1	357	1	0	0	0	0	0	0	0	1	8091	1132	40	1		1	KCNH8	3	19575324	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6694448	19575324	178447106	143	67435											
TGFBR2	7048	broad.mit.edu	37	chr3	30732942	30732942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgtgtgagacgttgactGagtgctgggaccacgaccca	8	9	15	9	2	0	3	0	3	0	1	0	6	0	4	2	2	1	2	2	2	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:30732942G>A	ENST00000295754.5	+	7	1937	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	519	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.E519K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACGTTGACTGAGTGCTGGGA	0.617													9	50					0	0	0	0	A	30732942	G	A	30732942	3	1	357	1	0	0	0	0	1	0	0	0	15916	1291	45	2	1660	2	TGFBR2	3	30732942	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	11157618	30732942	167289488	144	67436											
ARPP21	10777	broad.mit.edu	37	chr3	35763098	35763098	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctggtggtcgtactccaggGgcaacagagatggctcaggg	8	8	16	9	1	2	1	1	0	1	1	4	2	3	1	1	6	2	3	1	6	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:35763098G>C	ENST00000187397.4	+	14	1453	c.995_splice	c.e14-1	p.G333_splice	ARPP21_ENST00000417925.1_Splice_Site_p.G299_splice|ARPP21_ENST00000458225.1_Splice_Site_p.G299_splice|ARPP21_ENST00000337271.5_Splice_Site_p.G279_splice|ARPP21_ENST00000444190.1_Splice_Site_p.G279_splice	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	333						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GTACTCCAGGGGCAACAGAGA	0.527													5	23					0	0	0	0	C	35763098	G	C	35763098	5	2	357	1	0	0	0	0	0	0	1	0	982	1246	43	4	1056	4	ARPP21	3	35763098	Splice_Site	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	5030156	35763098	162259332	145	67437											
EXOG	9941	broad.mit.edu	37	chr3	38537876	38537876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagatggctatcaagagtatCgcttcccgcctccggggttc	8	10	11	12	3	1	2	1	0	0	2	5	2	3	2	3	3	0	4	3	3	4	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:38537876C>T	ENST00000287675.5	+	1	114	c.18C>T	c.(16-18)atC>atT	p.I6I	EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Silent_p.I6I	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	6						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TCAAGAGTATCGCTTCCCGCC	0.687											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	50					0	0	0	0	T	38537876	C	T	38537876	2	4	357	1	0	0	0	0	0	0	0	1	5349	874	31	1		1	EXOG	3	38537876	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2774778	38537876	159484554	146	67438											
TRAK1	22906	broad.mit.edu	37	chr3	42264824	42264824	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagccagccagctccatcctGagggaagtgagagaaaagaa	16	4	12	9	0	0	4	0	2	0	2	2	6	2	5	4	1	3	1	4	1	5	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:42264824G>A	ENST00000327628.5	+	16	2857	c.2457G>A	c.(2455-2457)ctG>ctA	p.L819L	TRAK1_ENST00000396175.1_Silent_p.L761L|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	819					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GCTCCATCCTGAGGGAAGTGA	0.577													7	47					0	0	0	0	A	42264824	G	A	42264824	2	1	357	1	0	0	0	0	0	0	0	1	16544	1277	45	2		2	TRAK1	3	42264824	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3726948	42264824	155757606	147	67439											
LRRC2	79442	broad.mit.edu	37	chr3	46574374	46574374	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatagttgaaacccacattGagttctttcaggttcttcaa	12	14	7	8	0	4	3	2	2	2	1	4	3	4	3	1	1	1	3	1	1	3	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:46574374G>C	ENST00000395905.3	-	5	908	c.516C>G	c.(514-516)ctC>ctG	p.L172L	LRRC2_ENST00000296144.3_Silent_p.L172L	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	172										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		AACCCACATTGAGTTCTTTCA	0.363													18	72					0	0	0	0	C	46574374	G	C	46574374	2	2	357	1	0	0	0	0	0	0	0	1	9040	1277	45	2		2	LRRC2	3	46574374	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4309550	46574374	151448056	148	67440											
NCKIPSD	51517	broad.mit.edu	37	chr3	48719787	48719787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctccccacacacctggtaGaggcctccatctgccccaag	8	7	7	19	0	1	1	0	0	1	1	4	1	4	1	8	2	1	1	8	2	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:48719787G>A	ENST00000294129.2	-	3	599	c.480C>T	c.(478-480)ctC>ctT	p.L160L	NCKIPSD_ENST00000341520.4_Silent_p.L160L|NCKIPSD_ENST00000416649.2_Silent_p.L160L	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	160					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACACCTGGTAGAGGCCTCCAT	0.617													51	188					0	0	0	0	A	48719787	G	A	48719787	2	1	357	1	0	0	0	0	0	0	0	1	10295	929	33	2		2	NCKIPSD	3	48719787	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2145413	48719787	149302643	149	67441											
C3orf62	375341	broad.mit.edu	37	chr3	49314082	49314082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagcaaaaggagcagcaGaagagcaggctgccagagga	16	1	15	9	0	0	3	0	0	0	3	0	5	0	5	1	3	6	6	1	3	3	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:49314082G>A	ENST00000343010.3	-	1	1260	c.224C>T	c.(223-225)tCt>tTt	p.S75F		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	75										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGGAGCAGCAGAAGAGCAGGC	0.587													22	85					0	0	0	0	A	49314082	G	A	49314082	3	1	357	1	0	0	0	0	1	0	0	0	2258	942	33	2	591	2	C3orf62	3	49314082	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	594295	49314082	148708348	150	67442											
USP4	7375	broad.mit.edu	37	chr3	49321937	49321937	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggtctccatggtggtgaaGagctcgatgcagtctctcag	8	10	14	9	1	3	2	1	1	2	1	6	3	3	2	1	3	2	2	1	3	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:49321937G>C	ENST00000351842.4	-	17	2219	c.2211C>G	c.(2209-2211)ctC>ctG	p.L737L	USP4_ENST00000265560.4_Silent_p.L784L	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	784					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGGTGGTGAAGAGCTCGATGC	0.572													30	81					0	0	0	0	C	49321937	G	C	49321937	2	2	357	1	0	0	0	0	0	0	0	1	17167	929	33	2		2	USP4	3	49321937	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	7855	49321937	148700493	151	67443											
RAD54L2	23132	broad.mit.edu	37	chr3	51669689	51669689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggggtacgagatgtacaGactcctcactctgaagaaat	13	9	11	8	1	2	4	1	1	1	3	3	6	3	4	1	2	2	2	1	2	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:51669689G>A	ENST00000409535.1	+	9	1348	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	RAD54L2_ENST00000296477.3_Missense_Mutation_p.R102K	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	408	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GAGATGTACAGACTCCTCACT	0.493													6	36					0	0	0	0	A	51669689	G	A	51669689	3	1	357	1	0	0	0	0	1	0	0	0	13076	942	33	2	1253	2	RAD54L2	3	51669689	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2347752	51669689	146352741	152	67444											
ITIH1	3697	broad.mit.edu	37	chr3	52824845	52824845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttgaggttgttttgcaccGagtgtggaaggggagctcgg	6	12	17	6	2	0	1	0	1	0	0	1	4	0	3	1	5	2	4	1	5	1	4	rs144224070	by1000genomes	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:52824845G>A	ENST00000273283.2	+	20	2426	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q	ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.R659Q|ITIH1_ENST00000405128.3_Missense_Mutation_p.R167Q|ITIH1_ENST00000537050.1_Missense_Mutation_p.R513Q	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	801	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTTTTGCACCGAGTGTGGAAG	0.607													42	177					0	0	0	0	A	52824845	G	A	52824845	3	1	357	1	0	0	0	0	1	0	0	0	7956	1058	37	1	2480	1	ITIH1	3	52824845	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1155156	52824845	145197585	153	67445											
IL17RB	55540	broad.mit.edu	37	chr3	53890958	53890958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccactcccctgggaaacaGatacatggctcttatccaac	13	8	6	14	0	1	1	0	0	1	1	3	2	3	2	4	2	4	1	4	2	5	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:53890958G>A	ENST00000288167.3	+	7	626	c.617G>A	c.(616-618)aGa>aAa	p.R206K		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	206					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CTGGGAAACAGATACATGGCT	0.478													14	137					0	0	0	0	A	53890958	G	A	53890958	3	1	357	1	0	0	0	0	1	0	0	0	7693	942	33	2	643	2	IL17RB	3	53890958	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1066113	53890958	144131472	154	67446											
ERC2	26059	broad.mit.edu	37	chr3	56468906	56468906	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggatattctccatagacaGagtcttgcctgttcctccac	8	13	7	13	0	2	2	0	0	2	2	5	3	4	3	4	1	1	1	4	1	2	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:56468906G>C	ENST00000288221.6	-	2	385	c.130C>G	c.(130-132)Ctg>Gtg	p.L44V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	44						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCCATAGACAGAGTCTTGCCT	0.527													18	68					0	0	0	0	C	56468906	G	C	56468906	3	2	357	1	0	0	0	0	1	0	0	0	5249	933	33	2	2797	2	ERC2	3	56468906	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2577948	56468906	141553524	155	67447											
CCDC66	285331	broad.mit.edu	37	chr3	56647746	56647746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagatgcagaaacagtatGaagaagacatacttaagcaa	21	6	9	5	0	0	5	0	1	0	4	0	6	0	5	0	0	4	3	0	0	8	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:56647746G>A	ENST00000394672.3	+	11	1604	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	CCDC66_ENST00000436465.2_Missense_Mutation_p.E512K|CCDC66_ENST00000326595.7_Missense_Mutation_p.E478K	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	512										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAAACAGTATGAAGAAGACAT	0.393													20	111					0	0	0	0	A	56647746	G	A	56647746	3	1	357	1	0	0	0	0	1	0	0	0	2865	1291	45	2	1576	2	CCDC66	3	56647746	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	178840	56647746	141374684	156	67448											
C3orf67	200844	broad.mit.edu	37	chr3	58728270	58728270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacaaagtcagtacttcctCgtcctcttccacactgaggt	10	11	6	14	1	2	1	1	1	1	0	6	1	5	1	3	1	2	1	3	1	3	3	rs139831294	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:58728270C>T	ENST00000295966.7	-	16	2112	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	C3orf67_ENST00000482387.1_Missense_Mutation_p.E663K	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	532										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AGTACTTCCTCGTCCTCTTCC	0.502													5	42					0	0	0	0	T	58728270	C	T	58728270	3	4	357	1	0	0	0	0	1	0	0	0	2261	893	31	1	86	1	C3orf67	3	58728270	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2080524	58728270	139294160	157	67449											
RYBP	23429	broad.mit.edu	37	chr3	72428456	72428456	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggactaatttccttgtctTtctcaggtttctctttgtcc	5	20	6	10	0	3	0	1	0	3	0	7	1	5	1	2	2	0	1	2	2	2	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:72428456T>G	ENST00000477973.1	-	2	545	c.546A>C	c.(544-546)gaA>gaC	p.E182D		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0	Interaction with E4TF1B.|Ser-rich.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TTCCTTGTCTTTCTCAGGTTT	0.408													17	84					0	0	0	0	G	72428456	T	G	72428456	3	3	357	1	0	0	0	0	1	0	0	0	13851	1841	64	5	417	5	RYBP	3	72428456	Missense_Mutation	SNP	T	TCGA-CV-A6K2-01A-11D-A31L-08	13700186	72428456	125593974	158	67450											
RYBP	23429	broad.mit.edu	37	chr3	72428484	72428484	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctctttgtcctgcttttCaactttctccttcttctcct	2	23	2	14	0	5	0	1	0	4	0	9	0	6	0	3	0	2	1	3	0	1	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:72428484C>G	ENST00000477973.1	-	2	517	c.518G>C	c.(517-519)tGa>tCa	p.*173S		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0	Interaction with E4TF1B.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TCCTGCTTTTCAACTTTCTCC	0.418													18	53					0	0	0	0	G	72428484	C	G	72428484	4	3	357	1	0	0	0	0	0	0	0	0	13851	835	29	2	445	2	RYBP	3	72428484	Nonstop_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	28	72428484	125593946	159	67451											
CGGBP1	8545	broad.mit.edu	37	chr3	88104670	88104670	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctcattctcatatccatCaggaagatatgccctccgta	11	13	5	12	1	3	1	3	0	2	1	7	2	5	2	3	1	1	1	3	1	4	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:88104670C>G	ENST00000398392.2	-	1	1789	c.457G>C	c.(457-459)Gat>Cat	p.D153H	CGGBP1_ENST00000309534.6_Missense_Mutation_p.D153H|CGGBP1_ENST00000462901.1_Missense_Mutation_p.D153H|CGGBP1_ENST00000482016.1_Missense_Mutation_p.D153H			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		TCATATCCATCAGGAAGATAT	0.448													9	47					0	0	0	0	G	88104670	C	G	88104670	3	3	357	1	0	0	0	0	1	0	0	0	3331	826	29	2	50	2	CGGBP1	3	88104670	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	15676186	88104670	109917760	160	67452											
ABI3BP	25890	broad.mit.edu	37	chr3	100570746	100570746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatctgatatctcaggctCatctgatgttgtagggcttg	8	14	12	7	0	4	2	2	2	3	0	5	3	4	3	0	3	0	4	0	3	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:100570746C>T	ENST00000471714.1	-	15	1454	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	ABI3BP_ENST00000495063.1_Missense_Mutation_p.E449K|ABI3BP_ENST00000284322.5_Missense_Mutation_p.E400K			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	412	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATCTCAGGCTCATCTGATGTT	0.348													3	7					0	0	0	0	T	100570746	C	T	100570746	3	4	357	1	0	0	0	0	1	0	0	0	91	835	29	2	2121	2	ABI3BP	3	100570746	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	12466076	100570746	97451684	161	67453											
PVRL3	25945	broad.mit.edu	37	chr3	110852721	110852721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagacggacgtttcgtggaGactactttgccaagaactac	12	9	11	9	3	0	3	0	0	0	3	1	6	0	4	1	2	4	1	1	2	5	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:110852721G>A	ENST00000485303.1	+	6	1584	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	437					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GTTTCGTGGAGACTACTTTGC	0.418													28	70					0	0	0	0	A	110852721	G	A	110852721	3	1	357	1	0	0	0	0	1	0	0	0	12923	942	33	2	1331	2	PVRL3	3	110852721	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	10281975	110852721	87169709	162	67454											
CD200R1	131450	broad.mit.edu	37	chr3	112648154	112648154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaaggtccgaattctgatCaggtctggagacccaggtta	10	10	12	9	1	3	3	1	2	2	1	4	5	4	3	2	4	0	1	2	4	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:112648154C>G	ENST00000471858.1	-	3	566	c.334G>C	c.(334-336)Gat>Cat	p.D112H	CD200R1_ENST00000295863.4_Missense_Mutation_p.D90H|CD200R1_ENST00000308611.3_Missense_Mutation_p.D135H|CD200R1_ENST00000440122.2_Missense_Mutation_p.D135H|CD200R1_ENST00000490004.1_Missense_Mutation_p.D112H	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	112	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GAATTCTGATCAGGTCTGGAG	0.463													5	64					0	0	0	0	G	112648154	C	G	112648154	3	3	357	1	0	0	0	0	1	0	0	0	3010	826	29	2	710	2	CD200R1	3	112648154	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1795433	112648154	85374276	163	67455											
GTPBP8	29083	broad.mit.edu	37	chr3	112709965	112709965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaggtgctgcggctgcCgaagcagcagctgaggaagc	8	6	17	10	2	0	2	0	2	0	0	0	4	0	3	1	3	8	6	1	3	2	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:112709965C>T	ENST00000383677.3	+	1	134	c.119C>T	c.(118-120)cCg>cTg	p.P40L	GTPBP8_ENST00000383678.2_Missense_Mutation_p.P40L	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	40					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						CTGCGGCTGCCGAAGCAGCAG	0.597													8	51					0	0	0	0	T	112709965	C	T	112709965	3	4	357	1	0	0	0	0	1	0	0	0	6934	652	23	1	121	1	GTPBP8	3	112709965	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	61811	112709965	85312465	164	67456											
B4GALT4	8702	broad.mit.edu	37	chr3	118945719	118945719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagggatgcagatgttcCagcaggtacatcaggtgttt	11	10	14	6	0	1	1	1	0	0	1	2	3	2	3	1	4	3	5	1	4	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:118945719C>T	ENST00000467604.1	-	4	814	c.423G>A	c.(421-423)ctG>ctA	p.L141L	B4GALT4_ENST00000483209.1_Silent_p.L141L|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000359213.3_Silent_p.L141L|B4GALT4_ENST00000471675.1_Intron|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000393765.2_Silent_p.L141L			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	141					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GCAGATGTTCCAGCAGGTACA	0.587													3	30					0	0	0	0	T	118945719	C	T	118945719	2	4	357	1	0	0	0	0	0	0	0	1	1277	581	21	4		4	B4GALT4	3	118945719	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	6235754	118945719	79076711	165	67457											
IQCB1	9657	broad.mit.edu	37	chr3	121547447	121547447	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtttgattttcttcaactCtgagcttcctaaaggtgtga	8	18	8	7	0	3	3	1	3	2	0	4	3	4	3	1	1	2	2	1	1	3	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:121547447C>G	ENST00000310864.6	-	4	347	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	IQCB1_ENST00000349820.6_Missense_Mutation_p.E45Q	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	45					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TTCTTCAACTCTGAGCTTCCT	0.318													6	35					0	0	0	0	G	121547447	C	G	121547447	3	3	357	1	0	0	0	0	1	0	0	0	7856	922	32	2	1711	2	IQCB1	3	121547447	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2601728	121547447	76474983	166	67458											
PARP14	54625	broad.mit.edu	37	chr3	122432775	122432775	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtagaaagggaatgttctCagcaaggtaaggcatattct	14	11	11	5	0	2	1	1	0	2	1	3	2	2	2	0	3	1	5	0	3	6	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:122432775C>T	ENST00000474629.2	+	11	4092	c.3826C>T	c.(3826-3828)Cag>Tag	p.Q1276*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1276	Macro 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGAATGTTCTCAGCAAGGTAA	0.398													12	68					0	0	0	0	T	122432775	C	T	122432775	4	4	357	1	0	0	0	0	0	1	0	0	11529	827	29	2	3868	2	PARP14	3	122432775	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	885328	122432775	75589655	167	67459											
KALRN	8997	broad.mit.edu	37	chr3	124053324	124053324	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggctgcagctctgcgtcttCcagcaggatgtacagcaggt	7	9	13	12	2	2	0	0	0	2	0	3	1	3	1	1	3	6	6	1	3	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:124053324C>T	ENST00000360013.3	+	9	1750	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	KALRN_ENST00000460856.1_Silent_p.F541F|KALRN_ENST00000240874.3_Silent_p.F541F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	541					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTGCGTCTTCCAGCAGGATG	0.597													9	24					0	0	0	0	T	124053324	C	T	124053324	2	4	357	1	0	0	0	0	0	0	0	1	8028	854	30	2		2	KALRN	3	124053324	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1620549	124053324	73969106	168	67460											
MUC13	56667	broad.mit.edu	37	chr3	124627121	124627121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagattggtgaagcctgtcGaccgcagttttagattttga	10	13	11	7	2	0	4	0	2	0	2	1	5	0	4	2	1	1	2	2	1	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:124627121G>A	ENST00000311075.3	-	11	1447	c.1409C>T	c.(1408-1410)tCg>tTg	p.S470L		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	470						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GAAGCCTGTCGACCGCAGTTT	0.423													11	51					0	0	0	0	A	124627121	G	A	124627121	3	1	357	1	0	0	0	0	1	0	0	0	10041	1059	37	1	130	1	MUC13	3	124627121	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	573797	124627121	73395309	169	67461											
CCDC37	348807	broad.mit.edu	37	chr3	126138594	126138594	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaagaaacactcgtttctCaaaaaggccaaggaggtctc	16	7	9	9	1	2	1	1	0	2	1	5	3	2	2	1	3	1	1	1	3	6	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:126138594C>T	ENST00000393425.1	+	9	948	c.849C>T	c.(847-849)ctC>ctT	p.L283L	CCDC37_ENST00000505024.1_Silent_p.L283L|CCDC37_ENST00000352312.1_Silent_p.L282L			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	282										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACTCGTTTCTCAAAAAGGCCA	0.473													19	68					0	0	0	0	T	126138594	C	T	126138594	2	4	357	1	0	0	0	0	0	0	0	1	2835	813	29	2		2	CCDC37	3	126138594	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1511473	126138594	71883836	170	67462											
RAB43	339122	broad.mit.edu	37	chr3	128840276	128840276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgcccaccagcaccagcttGaacaggaaatcgtactgctc	11	7	8	15	2	0	1	0	1	0	0	3	2	0	2	3	1	5	4	3	1	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:128840276G>C	ENST00000315150.5	-	1	357	c.57C>G	c.(55-57)ttC>ttG	p.F19L	RAB43_ENST00000393304.1_Missense_Mutation_p.F19L|RAB43_ENST00000393308.1_Missense_Mutation_p.F19L|RAB43_ENST00000393307.1_Missense_Mutation_p.F19L|RAB43_ENST00000476465.1_Missense_Mutation_p.F19L|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393305.1_Missense_Mutation_p.F19L	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	19					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(2)|liver(1)|lung(2)|skin(1)	6						GCACCAGCTTGAACAGGAAAT	0.692													3	30					0	0	0	0	C	128840276	G	C	128840276	3	2	357	1	0	0	0	0	1	0	0	0	13027	1281	45	2	593	2	RAB43	3	128840276	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2701682	128840276	69182154	171	67463											
ATP2C1	27032	broad.mit.edu	37	chr3	130686192	130686192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcgggctgtgtgtgcaatGatgctgtaattagaaacaat	12	11	13	5	1	0	2	0	1	0	1	0	2	0	2	0	2	3	4	0	2	5	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:130686192G>A	ENST00000510168.1	+	16	1787	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	ATP2C1_ENST00000328560.8_Missense_Mutation_p.D413N|ATP2C1_ENST00000533801.2_Missense_Mutation_p.D408N|ATP2C1_ENST00000507488.2_Missense_Mutation_p.D397N|ATP2C1_ENST00000393221.4_Missense_Mutation_p.D447N|ATP2C1_ENST00000359644.3_Missense_Mutation_p.D413N|ATP2C1_ENST00000504381.1_Missense_Mutation_p.D358N|ATP2C1_ENST00000505330.1_Missense_Mutation_p.D397N|ATP2C1_ENST00000422190.2_Missense_Mutation_p.D413N|ATP2C1_ENST00000504948.1_Missense_Mutation_p.D397N|ATP2C1_ENST00000508532.1_Missense_Mutation_p.D413N|ATP2C1_ENST00000513801.1_Missense_Mutation_p.D397N|ATP2C1_ENST00000428331.2_Missense_Mutation_p.D413N			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	413					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TGTGTGCAATGATGCTGTAAT	0.368									Hailey-Hailey disease				19	76					0	0	0	0	A	130686192	G	A	130686192	3	1	357	1	0	0	0	0	1	0	0	0	1147	1290	45	2	1295	2	ATP2C1	3	130686192	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1845916	130686192	67336238	172	67464											
TRIM42	287015	broad.mit.edu	37	chr3	140401612	140401612	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacgggcgtctcaccaagcGctacatgcaggagcacggct	9	5	13	14	4	1	0	1	0	1	0	2	1	1	1	1	3	4	5	1	3	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:140401612G>C	ENST00000286349.3	+	2	841	c.650G>C	c.(649-651)cGc>cCc	p.R217P		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	217						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTCACCAAGCGCTACATGCAG	0.617													31	128					0	0	0	0	C	140401612	G	C	140401612	3	2	357	1	0	0	0	0	1	0	0	0	16612	1087	38	3	656	3	TRIM42	3	140401612	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	9715420	140401612	57620818	173	67465											
SLC9A9	285195	broad.mit.edu	37	chr3	143212502	143212502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagttcacatacctgaaaaCatcatcatgtgctgaaagtt	15	12	6	8	0	3	2	3	2	0	0	3	2	3	2	1	0	3	3	1	0	5	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:143212502C>A	ENST00000316549.6	-	11	1516	c.1308G>T	c.(1306-1308)atG>atT	p.M436I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	436					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TACCTGAAAACATCATCATGT	0.403													15	59					1.3612e-06	1.40477e-06	1	0	A	143212502	C	A	143212502	3	1	357	1	0	0	0	0	1	0	0	0	14809	478	17	4	653	4	SLC9A9	3	143212502	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2810890	143212502	54809928	174	67466											
MED12L	116931	broad.mit.edu	37	chr3	150873977	150873977	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatatctaccagatatcttCgagagcagttggccaagatt	13	11	9	8	1	2	4	0	0	2	4	3	5	2	4	2	1	2	2	2	1	4	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:150873977C>T	ENST00000474524.1	+	5	624	c.586C>T	c.(586-588)Cga>Tga	p.R196*	MED12L_ENST00000273432.4_Nonsense_Mutation_p.R196*|MED12L_ENST00000309237.4_Nonsense_Mutation_p.R196*|MED12L_ENST00000422248.2_Nonsense_Mutation_p.R196*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	196					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGATATCTTCGAGAGCAGTT	0.458													18	70					0	0	0	0	T	150873977	C	T	150873977	4	4	357	1	0	0	0	0	0	1	0	0	9498	876	31	1	604	1	MED12L	3	150873977	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	7661475	150873977	47148453	175	67467											
IGSF10	285313	broad.mit.edu	37	chr3	151166890	151166890	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctactgtcttccagaatagtCaggctctttgatttcaggga	9	14	9	9	0	4	2	2	1	2	1	5	3	5	3	1	2	1	1	1	2	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:151166890C>G	ENST00000282466.3	-	4	878	c.879G>C	c.(877-879)ctG>ctC	p.L293L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	293					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGAATAGTCAGGCTCTTTG	0.478													20	101					0	0	0	0	G	151166890	C	G	151166890	2	3	357	1	0	0	0	0	0	0	0	1	7650	813	29	2		2	IGSF10	3	151166890	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	292913	151166890	46855540	176	67468											
GPR149	344758	broad.mit.edu	37	chr3	154146952	154146952	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacggtcagcaccacgccGagcacctggcccgatcttct	8	6	9	18	4	3	0	1	0	2	0	3	2	3	0	4	2	2	2	4	2	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:154146952G>A	ENST00000389740.2	-	1	552	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	151						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCACCACGCCGAGCACCTGGC	0.642													4	59					0	0	0	0	A	154146952	G	A	154146952	2	1	357	1	0	0	0	0	0	0	0	1	6703	1045	37	1		1	GPR149	3	154146952	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2980062	154146952	43875478	177	67469											
PLCH1	23007	broad.mit.edu	37	chr3	155200226	155200226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagcctgattgttggtctCatcaaactggccaatcaggg	10	10	12	9	0	3	2	3	1	1	1	4	3	3	2	2	3	2	1	2	3	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:155200226C>T	ENST00000460012.1	-	23	3856	c.3499G>A	c.(3499-3501)Gag>Aag	p.E1167K	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Missense_Mutation_p.E1205K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E1167K|PLCH1_ENST00000414191.1_Missense_Mutation_p.E1167K			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1205					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGTTGGTCTCATCAAACTGG	0.458													7	69					0	0	0	0	T	155200226	C	T	155200226	3	4	357	1	0	0	0	0	1	0	0	0	12109	835	29	2	1472	2	PLCH1	3	155200226	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1053274	155200226	42822204	178	67470											
VEPH1	79674	broad.mit.edu	37	chr3	157082177	157082177	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaggggtattgctccctgCatttatcttgtcttcaaaag	8	14	9	10	0	3	0	1	0	2	0	4	0	4	0	2	2	2	3	2	2	4	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:157082177C>A	ENST00000362010.2	-	8	1559	c.1252G>T	c.(1252-1254)Gca>Tca	p.A418S	VEPH1_ENST00000543418.1_Missense_Mutation_p.A418S|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.A418S|VEPH1_ENST00000392833.2_Missense_Mutation_p.A418S	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	418						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTGCTCCCTGCATTTATCTTG	0.373													15	40					2.62699e-14	2.78169e-14	1	0	A	157082177	C	A	157082177	3	1	357	1	0	0	0	0	1	0	0	0	17250	710	25	4	1277	4	VEPH1	3	157082177	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1881951	157082177	40940253	179	67471											
SLITRK3	22865	broad.mit.edu	37	chr3	164905757	164905757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagtttggcccttaactcGaggtaatcacttttttgggt	8	16	10	7	1	1	1	1	1	0	0	2	2	1	1	1	3	1	2	1	3	3	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:164905757G>A	ENST00000475390.1	-	2	3305	c.2862C>T	c.(2860-2862)ctC>ctT	p.L954L	SLITRK3_ENST00000241274.3_Silent_p.L954L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	954						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCCTTAACTCGAGGTAATCAC	0.448										HNSCC(40;0.11)			49	134					0	0	0	0	A	164905757	G	A	164905757	2	1	357	1	0	0	0	0	0	0	0	1	14832	1045	37	1		1	SLITRK3	3	164905757	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	7823580	164905757	33116673	180	67472											
ZBBX	79740	broad.mit.edu	37	chr3	167045805	167045805	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattgacttaacacttcctGaaaggactgtgcagaagctt	12	11	8	10	0	0	3	0	2	0	1	1	4	1	4	2	1	3	2	2	1	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:167045805G>A	ENST00000392766.2	-	11	1127	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	ZBBX_ENST00000307529.5_Nonsense_Mutation_p.Q263*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.Q234*|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.Q263*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.Q263*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	263						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AACACTTCCTGAAAGGACTGT	0.368													36	124					0	0	0	0	A	167045805	G	A	167045805	4	1	357	1	0	0	0	0	0	1	0	0	17612	1299	45	2	1659	2	ZBBX	3	167045805	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2140048	167045805	30976625	181	67473											
LAMP3	27074	broad.mit.edu	37	chr3	182870195	182870195	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagattcacaaatccgccctGaaaattcaacagaaggttgg	15	8	9	9	1	2	3	2	1	0	2	3	4	3	3	2	2	1	1	2	2	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:182870195G>A	ENST00000265598.3	-	3	1111	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	LAMP3_ENST00000466939.1_Nonsense_Mutation_p.Q262*	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	286					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AATCCGCCCTGAAAATTCAAC	0.502													76	213					0	0	0	0	A	182870195	G	A	182870195	4	1	357	1	0	0	0	0	0	1	0	0	8672	1299	45	2	410	2	LAMP3	3	182870195	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	15824390	182870195	15152235	182	67474											
EIF2B5	8893	broad.mit.edu	37	chr3	183859730	183859730	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caggtgataacgtggtgctgGaccagacctacctgtggcag	9	8	14	10	1	0	2	0	1	0	1	0	3	0	3	3	4	3	2	3	4	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:183859730G>C	ENST00000273783.3	+	8	1296	c.1174G>C	c.(1174-1176)Gac>Cac	p.D392H	EIF2B5_ENST00000444495.1_Missense_Mutation_p.D392H	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	392					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CGTGGTGCTGGACCAGACCTA	0.562													12	70					0	0	0	0	C	183859730	G	C	183859730	3	2	357	1	0	0	0	0	1	0	0	0	5040	1174	41	2	1204	2	EIF2B5	3	183859730	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	989535	183859730	14162700	183	67475											
ST6GAL1	6480	broad.mit.edu	37	chr3	186769125	186769125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaactaccattcgcctgatGaactctcaggtaaaatttct	14	12	5	10	1	2	2	1	2	2	0	4	2	2	2	2	1	3	1	2	1	6	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:186769125G>A	ENST00000169298.3	+	5	1370	c.696G>A	c.(694-696)atG>atA	p.M232I	ST6GAL1_ENST00000457772.2_Start_Codon_SNP_p.M1I|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.M232I	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	232					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TTCGCCTGATGAACTCTCAGG	0.458													5	52					0	0	0	0	A	186769125	G	A	186769125	3	1	357	1	0	0	0	0	1	0	0	0	15311	1290	45	2	702	2	ST6GAL1	3	186769125	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2909395	186769125	11253305	184	67476											
OPA1	4976	broad.mit.edu	37	chr3	193384985	193384985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattagagaaaaatgttaaaGaggtattggaagattttgct	16	13	11	1	0	0	3	0	0	0	3	0	6	0	4	0	2	1	3	0	2	7	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:193384985G>C	ENST00000361510.2	+	29	3133	c.2899G>C	c.(2899-2901)Gag>Cag	p.E967Q	OPA1_ENST00000361715.2_Missense_Mutation_p.E931Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E913Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E930Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E949Q|OPA1_ENST00000392438.3_Missense_Mutation_p.E912Q	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	912					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAATGTTAAAGAGGTATTGGA	0.333													17	83					0	0	0	0	C	193384985	G	C	193384985	3	2	357	1	0	0	0	0	1	0	0	0	10942	943	33	2	3013	2	OPA1	3	193384985	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6615860	193384985	4637445	185	67477											
PIGG	54872	broad.mit.edu	37	chr4	493170	493170	+	Missense_Mutation	SNP	G	G	A																															ctacctgttgcgtagcgatcGaggtgctagggatcgcggtc																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:493170G>A	ENST00000453061.2	+	1	152	c.46G>A	c.(46-48)Gag>Aag	p.E16K	PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.E16K|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.E16K|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000504346.1_Intron	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	16					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CGTAGCGATCGAGGTGCTAGG	0.667													5	19					0	0	0	0	A	493170	G	A	493170	3	1	357	1	0	0	0	0	1	0	0	0	11960	1059	37	1	48	1	PIGG	4	493170	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08		493170	190661106	186	67478	827	2									
PIGG	54872	broad.mit.edu	37	chr4	493173	493173	+	Missense_Mutation	SNP	G	G	A																															cctgttgcgtagcgatcgagGtgctagggatcgcggtcttc																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:493173G>A	ENST00000453061.2	+	1	155	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.V17M|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.V17M|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000504346.1_Intron	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	17					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						AGCGATCGAGGTGCTAGGGAT	0.667													5	20					0	0	0	0	A	493173	G	A	493173	3	1	357	1	0	0	0	0	1	0	0	0	11960	1261	44	4	51	4	PIGG	4	493173	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3	493173	190661103	187	67479	827	2									
PIGG	54872	broad.mit.edu	37	chr4	494265	494265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatagatgccttgagagatGattttgtgtttgggtcaaag	10	15	13	3	0	1	5	1	3	0	2	1	6	1	5	1	1	1	1	1	1	2	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:494265G>A	ENST00000453061.2	+	2	341	c.235G>A	c.(235-237)Gat>Aat	p.D79N	PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.D79N|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.D79N|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000504346.1_5'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	79					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CTTGAGAGATGATTTTGTGTT	0.428													7	36					0	0	0	0	A	494265	G	A	494265	3	1	357	1	0	0	0	0	1	0	0	0	11960	1290	45	2	241	2	PIGG	4	494265	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1092	494265	190660011	188	67480											
TNIP2	79155	broad.mit.edu	37	chr4	2746661	2746661	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcgctgccacttggcattGaggtcttcaacctgaagagg	9	10	12	10	1	2	3	1	2	1	1	2	3	2	3	2	3	3	2	2	3	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:2746661G>C	ENST00000510267.1	-	4	775	c.348C>G	c.(346-348)ctC>ctG	p.L116L	TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000315423.7_Silent_p.L223L	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	223						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACTTGGCATTGAGGTCTTCAA	0.587													5	54					0	0	0	0	C	2746661	G	C	2746661	2	2	357	1	0	0	0	0	0	0	0	1	16409	1277	45	2		2	TNIP2	4	2746661	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2252396	2746661	188407615	189	67481											
GPR78	27201	broad.mit.edu	37	chr4	8588802	8588802	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcggagctcgtgcccttCgtcaccgtgaacgcccagtg	5	8	13	15	5	1	1	1	1	0	0	3	2	1	2	3	2	3	1	3	2	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:8588802C>T	ENST00000382487.4	+	3	1221	c.804C>T	c.(802-804)ttC>ttT	p.F268F	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	268					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TCGTGCCCTTCGTCACCGTGA	0.657													14	47					0	0	0	0	T	8588802	C	T	8588802	2	4	357	1	0	0	0	0	0	0	0	1	6759	883	31	1		1	GPR78	4	8588802	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	5842141	8588802	182565474	190	67482											
KLHL5	51088	broad.mit.edu	37	chr4	39105062	39105062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagactttgaatactgtaGagtgctacaaccccaaaaca	16	9	7	9	0	0	4	0	2	0	2	0	4	0	4	2	0	5	2	2	0	8	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:39105062G>C	ENST00000261425.3	+	8	1608	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	KLHL5_ENST00000508137.2_Missense_Mutation_p.E345Q|KLHL5_ENST00000359687.2_Missense_Mutation_p.E532Q|KLHL5_ENST00000261426.5_Missense_Mutation_p.E471Q|KLHL5_ENST00000504108.1_Missense_Mutation_p.E532Q|KLHL5_ENST00000381930.3_Missense_Mutation_p.E532Q	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	532						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GAATACTGTAGAGTGCTACAA	0.428													16	77					0	0	0	0	C	39105062	G	C	39105062	3	2	357	1	0	0	0	0	1	0	0	0	8444	943	33	2	1620	2	KLHL5	4	39105062	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	30516260	39105062	152049214	191	67483											
WDR19	57728	broad.mit.edu	37	chr4	39233871	39233871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttgtaccttgcatccagCtgtcctattgctgccctgga	6	13	9	13	0	0	0	0	0	0	0	2	2	2	1	4	1	5	4	4	1	2	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:39233871C>A	ENST00000399820.3	+	19	2386	c.2232C>A	c.(2230-2232)agC>agA	p.S744R	WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Missense_Mutation_p.S584R	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	744					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTGCATCCAGCTGTCCTATTG	0.463													24	151					4.87955e-14	5.14942e-14	1	0	A	39233871	C	A	39233871	3	1	357	1	0	0	0	0	1	0	0	0	17375	796	28	4	2306	4	WDR19	4	39233871	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	128809	39233871	151920405	192	67484											
SLAIN2	57606	broad.mit.edu	37	chr4	48384836	48384836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctcctgctcggggaataGaatatagtagagtgtcccca	11	10	11	9	1	1	2	0	0	1	2	4	4	2	3	3	2	1	2	3	2	6	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:48384836G>A	ENST00000264313.6	+	5	1532	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	SLAIN2_ENST00000512093.1_Missense_Mutation_p.E179K	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	372						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TCGGGGAATAGAATATAGTAG	0.478													13	41					0	0	0	0	A	48384836	G	A	48384836	3	1	357	1	0	0	0	0	1	0	0	0	14454	943	33	2	1132	2	SLAIN2	4	48384836	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	9150965	48384836	142769440	193	67485											
GC	2638	broad.mit.edu	37	chr4	72629139	72629139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttacctgagccttgatttCttctccccataagcagcata	9	14	5	13	0	2	2	0	2	2	0	3	2	2	2	4	0	4	2	4	0	3	7	rs111261486	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:72629139C>T	ENST00000273951.8	-	6	1030	c.687G>A	c.(685-687)aaG>aaA	p.K229K	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.K229K|GC_ENST00000504199.1_Silent_p.K248K	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	229	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GCCTTGATTTCTTCTCCCCAT	0.363													12	56					0	0	0	0	T	72629139	C	T	72629139	2	4	357	1	0	0	0	0	0	0	0	1	6331	912	32	2		2	GC	4	72629139	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	24244303	72629139	118525137	194	67486											
CXCL1	2919	broad.mit.edu	37	chr4	74735496	74735496	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccggaccccactgcgccCaaaccgaagtcatgtaagtc	10	5	8	18	3	1	0	1	0	0	0	2	2	1	1	6	1	2	1	6	1	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:74735496C>T	ENST00000395761.3	+	2	278	c.211C>T	c.(211-213)Caa>Taa	p.Q71*	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	71					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CCACTGCGCCCAAACCGAAGT	0.657													27	184					0	0	0	0	T	74735496	C	T	74735496	4	4	357	1	0	0	0	0	0	1	0	0	4109	595	21	4	217	4	CXCL1	4	74735496	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2106357	74735496	116418780	195	67487											
CXCL2	2920	broad.mit.edu	37	chr4	74964368	74964368	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accatgggcgatgcggggttGagacaagctttctgcccatt	8	10	13	10	2	1	1	0	1	1	1	1	3	1	1	2	3	3	2	2	3	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:74964368G>C	ENST00000508487.2	-	3	430	c.258C>G	c.(256-258)ctC>ctG	p.L86L	CXCL2_ENST00000296031.4_5'UTR	NM_002089.3	NP_002080.1	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	86					chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin	extracellular space|soluble fraction	chemokine activity			lung(1)	1	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			ATGCGGGGTTGAGACAAGCTT	0.502													19	82					0	0	0	0	C	74964368	G	C	74964368	2	2	357	1	0	0	0	0	0	0	0	1	4117	1277	45	2		2	CXCL2	4	74964368	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	228872	74964368	116189908	196	67488											
SHROOM3	57619	broad.mit.edu	37	chr4	77659919	77659919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtctttcttccagctcctCtactagtgacctctccaact	6	16	4	15	0	4	1	0	1	4	0	7	1	6	1	4	0	3	1	4	0	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:77659919C>T	ENST00000296043.6	+	5	1546	c.593C>T	c.(592-594)tCt>tTt	p.S198F	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	198					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCAGCTCCTCTACTAGTGAC	0.517													20	102					0	0	0	0	T	77659919	C	T	77659919	3	4	357	1	0	0	0	0	1	0	0	0	14383	913	32	2	611	2	SHROOM3	4	77659919	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2695551	77659919	113494357	197	67489											
MMRN1	22915	broad.mit.edu	37	chr4	90857709	90857709	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccagatattcaacttcttCagaaaggtctaacagaattt	14	13	6	8	0	4	3	2	0	2	3	4	3	4	3	1	1	3	0	1	1	5	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:90857709C>T	ENST00000394980.1	+	7	3197	c.2878C>T	c.(2878-2880)Cag>Tag	p.Q960*	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.Q960*|MMRN1_ENST00000508372.1_Nonsense_Mutation_p.Q702*			Q13201	MMRN1_HUMAN	multimerin 1	960					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCAACTTCTTCAGAAAGGTCT	0.368													17	65					0	0	0	0	T	90857709	C	T	90857709	4	4	357	1	0	0	0	0	0	1	0	0	9740	827	29	2	2900	2	MMRN1	4	90857709	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	13197790	90857709	100296567	198	67490											
DKK2	27123	broad.mit.edu	37	chr4	107845356	107845356	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaggcaggggtctccttCatgccctgcagagatgatga	8	10	13	10	1	2	3	1	2	1	1	4	4	2	3	2	3	2	3	2	3	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:107845356C>A	ENST00000285311.3	-	4	1240	c.535G>T	c.(535-537)Gaa>Taa	p.E179*	DKK2_ENST00000513208.1_Nonsense_Mutation_p.E79*|DKK2_ENST00000510463.1_Nonsense_Mutation_p.E133*	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	179					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GGGTCTCCTTCATGCCCTGCA	0.413													8	52					5.18039e-06	5.33443e-06	1	0	A	107845356	C	A	107845356	4	1	357	1	0	0	0	0	0	1	0	0	4582	835	29	2	248	2	DKK2	4	107845356	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	16987647	107845356	83308920	199	67491											
CASP6	839	broad.mit.edu	37	chr4	110618874	110618874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gattgaagattaaagcaattCctctcctcctgtggtccatt	10	14	7	10	0	1	2	0	1	1	1	5	3	4	2	4	1	1	1	4	1	4	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:110618874C>T	ENST00000265164.2	-	3	211	c.134G>A	c.(133-135)gGa>gAa	p.G45E	CASP6_ENST00000505486.1_Missense_Mutation_p.G45E|CASP6_ENST00000352981.3_Intron	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	45					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		TAAAGCAATTCCTCTCCTCCT	0.408													11	44					0	0	0	0	T	110618874	C	T	110618874	3	4	357	1	0	0	0	0	1	0	0	0	2700	855	30	2	767	2	CASP6	4	110618874	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2773518	110618874	80535402	200	67492											
C4orf21	55345	broad.mit.edu	37	chr4	113483555	113483555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtactgtgttagaggtaGagtagctggattaaagtagt	12	12	14	3	0	0	2	0	0	0	2	0	3	0	3	0	3	2	6	0	3	7	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:113483555G>A	ENST00000505019.1	-	18	4794	c.4669C>T	c.(4669-4671)Cta>Tta	p.L1557L		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTTAGAGGTAGAGTAGCTGGA	0.343													6	8					0	0	0	0	A	113483555	G	A	113483555	2	1	357	1	0	0	0	0	0	0	0	1	2275	933	33	2		2	C4orf21	4	113483555	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2864681	113483555	77670721	201	67493											
EXOSC9	5393	broad.mit.edu	37	chr4	122723915	122723915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttttaaccttgaactctCtcagatggccgctccagctt	7	16	6	12	1	2	2	1	1	1	1	4	2	3	2	3	1	3	2	3	1	2	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:122723915C>T	ENST00000512454.1	+	2	416	c.200C>T	c.(199-201)tCt>tTt	p.S67F	EXOSC9_ENST00000379663.3_Missense_Mutation_p.S83F|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Missense_Mutation_p.S83F			Q06265	EXOS9_HUMAN	exosome component 9	83	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CTTGAACTCTCTCAGATGGCC	0.403													16	69					0	0	0	0	T	122723915	C	T	122723915	3	4	357	1	0	0	0	0	1	0	0	0	5359	913	32	2	258	2	EXOSC9	4	122723915	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	9240360	122723915	68430361	202	67494											
TRPC3	7222	broad.mit.edu	37	chr4	122854052	122854052	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggatgttgccgtactCggcggcgtcgaggaagcgct	6	8	16	11	6	0	0	0	0	0	0	2	3	0	2	1	4	3	3	1	4	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:122854052C>A	ENST00000264811.5	-	1	560	c.142G>T	c.(142-144)Gag>Tag	p.E48*	TRPC3_ENST00000379645.3_Nonsense_Mutation_p.E121*|TRPC3_ENST00000513531.1_Nonsense_Mutation_p.E48*	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	36					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTGCCGTACTCGGCGGCGTCG	0.662													12	63					2.80697e-09	2.92263e-09	1	0	A	122854052	C	A	122854052	4	1	357	1	0	0	0	0	0	1	0	0	16674	893	31	3	2448	3	TRPC3	4	122854052	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	130137	122854052	68300224	203	67495											
FAT4	79633	broad.mit.edu	37	chr4	126238058	126238058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgccaccgactcggacatCggctcaaacggtgtggacca	10	5	11	15	5	1	0	1	0	0	0	3	3	1	2	4	4	1	1	4	4	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:126238058C>T	ENST00000394329.3	+	1	505	c.492C>T	c.(490-492)atC>atT	p.I164I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	164	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTCGGACATCGGCTCAAACG	0.627											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	22					0	0	0	0	T	126238058	C	T	126238058	2	4	357	1	0	0	0	0	0	0	0	1	5737	874	31	1		1	FAT4	4	126238058	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3384006	126238058	64916218	204	67496											
FAT4	79633	broad.mit.edu	37	chr4	126329861	126329861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgataatccacctattttCagcttgaattcatacagcac	14	13	4	10	0	2	2	2	2	0	0	3	2	3	2	2	0	3	2	2	0	5	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:126329861C>G	ENST00000394329.3	+	4	5845	c.5832C>G	c.(5830-5832)ttC>ttG	p.F1944L	FAT4_ENST00000335110.5_Missense_Mutation_p.F242L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1944	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACCTATTTTCAGCTTGAATT	0.348													21	92					0	0	0	0	G	126329861	C	G	126329861	3	3	357	1	0	0	0	0	1	0	0	0	5737	825	29	2	5846	2	FAT4	4	126329861	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	91803	126329861	64824415	205	67497											
ARHGAP10	79658	broad.mit.edu	37	chr4	148787899	148787899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggatgtttaccttctatCatcagggccatgaacttgcc	9	12	10	10	0	3	1	2	1	1	0	3	2	3	2	3	3	3	1	3	3	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:148787899C>T	ENST00000336498.3	+	7	873	c.634C>T	c.(634-636)Cat>Tat	p.H212Y		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	212	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TACCTTCTATCATCAGGGCCA	0.338											OREG0016355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	57					0	0	0	0	T	148787899	C	T	148787899	3	4	357	1	0	0	0	0	1	0	0	0	864	826	29	2	660	2	ARHGAP10	4	148787899	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	22458038	148787899	42366377	206	67498											
MAB21L2	10586	broad.mit.edu	37	chr4	151504655	151504655	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgcggacaccagcgaggtCaagttgcgcatcagggagcg	10	5	15	11	5	2	0	2	0	0	0	3	3	2	2	1	3	3	2	1	3	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:151504655C>G	ENST00000317605.4	+	1	1579	c.474C>G	c.(472-474)gtC>gtG	p.V158V	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	158					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CCAGCGAGGTCAAGTTGCGCA	0.622													19	99					0	0	0	0	G	151504655	C	G	151504655	2	3	357	1	0	0	0	0	0	0	0	1	9207	813	29	2		2	MAB21L2	4	151504655	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2716756	151504655	39649621	207	67499											
GALNTL6	442117	broad.mit.edu	37	chr4	173150862	173150862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatggacagatggtttgaGaagaaaggactggcatgact	13	10	13	5	0	1	4	1	2	0	3	1	7	1	6	0	4	0	2	0	4	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:173150862G>C	ENST00000506823.1	+	3	851	c.194G>C	c.(193-195)aGa>aCa	p.R65T	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R48T	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	65						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GATGGTTTGAGAAGAAAGGAC	0.448													7	24					0	0	0	0	C	173150862	G	C	173150862	3	2	357	1	0	0	0	0	1	0	0	0	6274	942	33	2	200	2	GALNTL6	4	173150862	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	21646207	173150862	18003414	208	67500											
FAT1	2195	broad.mit.edu	37	chr4	187527363	187527363	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaccgtgagcgtgtaacctGaaatcttttcaggcaaaaga	14	9	10	8	2	2	3	1	2	1	1	2	4	2	3	2	1	3	2	2	1	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:187527363G>C	ENST00000441802.2	-	17	10420	c.10211C>G	c.(10210-10212)tCa>tGa	p.S3404*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3404	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTGTAACCTGAAATCTTTTC	0.517										HNSCC(5;0.00058)			9	41					0	0	0	0	C	187527363	G	C	187527363	4	2	357	1	0	0	0	0	0	1	0	0	5734	1294	45	2	3599	2	FAT1	4	187527363	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	14376501	187527363	3626913	209	67501											
FAT1	2195	broad.mit.edu	37	chr4	187549761	187549761	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtggatctctactgctctGcagagtgtagattagtttgt	8	15	11	7	0	2	2	0	0	2	2	3	3	2	3	0	1	3	4	0	1	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:187549761G>A	ENST00000441802.2	-	8	4689	c.4480C>T	c.(4480-4482)Cag>Tag	p.Q1494*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1494	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTACTGCTCTGCAGAGTGTAG	0.418										HNSCC(5;0.00058)			10	54					0	0	0	0	A	187549761	G	A	187549761	4	1	357	1	0	0	0	0	0	1	0	0	5734	1328	46	4	9366	4	FAT1	4	187549761	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	22398	187549761	3604515	210	67502											
FAT1	2195	broad.mit.edu	37	chr4	187560919	187560919	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttctcggtctagcttccttGacgtagttgtgatgagacct	6	15	11	9	2	2	3	0	3	2	1	4	4	3	3	2	1	1	4	2	1	2	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:187560919G>C	ENST00000441802.2	-	4	3808	c.3599C>G	c.(3598-3600)tCa>tGa	p.S1200*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1200	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAGCTTCCTTGACGTAGTTGT	0.328										HNSCC(5;0.00058)			8	68					0	0	0	0	C	187560919	G	C	187560919	4	2	357	1	0	0	0	0	0	1	0	0	5734	1294	45	2	10263	2	FAT1	4	187560919	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	11158	187560919	3593357	211	67503											
ZFP42	132625	broad.mit.edu	37	chr4	188924719	188924719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcacttttgaagggtgcgGaaagcgcttctctctggact	7	12	13	9	2	2	1	0	1	2	0	3	3	2	3	0	3	3	2	0	3	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:188924719G>T	ENST00000326866.4	+	4	1166	c.758G>T	c.(757-759)gGa>gTa	p.G253V	ZFP42_ENST00000509524.1_Missense_Mutation_p.G253V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	253					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAGGGTGCGGAAAGCGCTTC	0.507													6	46					0.0215528	0.0217153	1	0	T	188924719	G	T	188924719	3	4	357	1	0	0	0	0	1	0	0	0	17745	1174	41	2	760	2	ZFP42	4	188924719	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1363800	188924719	2229557	212	67504											
FRG1	2483	broad.mit.edu	37	chr4	190873403	190873403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaacctatatacatgcactcGacaatggtctttttaccctg	11	13	6	11	1	1	0	0	0	1	0	2	2	1	0	2	1	4	1	2	1	6	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:190873403G>C	ENST00000226798.4	+	3	442	c.220G>C	c.(220-222)Gac>Cac	p.D74H	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	74					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ACATGCACTCGACAATGGTCT	0.398													32	111					0	0	0	0	C	190873403	G	C	190873403	3	2	357	1	0	0	0	0	1	0	0	0	6094	1058	37	3	230	3	FRG1	4	190873403	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1948684	190873403	280873	213	67505											
SLC9A3	6550	broad.mit.edu	37	chr5	476783	476783	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagacagcgctgacattttCtctcctgcgtggggaccagc	7	9	12	13	2	1	2	0	1	1	1	3	3	2	3	2	2	3	2	2	2	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:476783C>G	ENST00000264938.3	-	12	1774	c.1765G>C	c.(1765-1767)Gaa>Caa	p.E589Q	SLC9A3_ENST00000514375.1_Missense_Mutation_p.E580Q|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	589						cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.E589K(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CTGACATTTTCTCTCCTGCGT	0.667													9	40					0	0	0	0	G	476783	C	G	476783	3	3	357	1	0	0	0	0	1	0	0	0	14801	922	32	2	763	2	SLC9A3	5	476783	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08		476783	180438477	214	67506											
BRD9	65980	broad.mit.edu	37	chr5	864672	864672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctccccgacactcaggcGagaagggcttcctgcaattt	8	9	10	14	2	1	1	1	0	0	1	3	3	3	1	3	2	2	3	3	2	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:864672G>A	ENST00000323510.4	-	13	1416	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	BRD9_ENST00000483173.1_Missense_Mutation_p.R516C|BRD9_ENST00000388890.4_Missense_Mutation_p.R453C|BRD9_ENST00000467963.1_Missense_Mutation_p.R569C			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	569							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ACACTCAGGCGAGAAGGGCTT	0.587													11	44					0	0	0	0	A	864672	G	A	864672	3	1	357	1	0	0	0	0	1	0	0	0	1515	1058	37	1	92	1	BRD9	5	864672	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	387889	864672	180050588	215	67507											
SLC12A7	10723	broad.mit.edu	37	chr5	1075524	1075524	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtagatgcagccagcgatGagcatggcggacagcgcgta	10	7	15	9	4	0	2	0	1	0	1	0	4	0	3	1	2	5	4	1	2	2	3	rs137990661	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:1075524G>A	ENST00000264930.5	-	15	1972	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	643					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGCCAGCGATGAGCATGGCGG	0.637													11	53					0	0	0	0	A	1075524	G	A	1075524	2	1	357	1	0	0	0	0	0	0	0	1	14476	1277	45	2		2	SLC12A7	5	1075524	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	210852	1075524	179839736	216	67508											
SLC6A19	340024	broad.mit.edu	37	chr5	1212485	1212485	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccgagagacgctcaacatCtccacgtccatcagcgactc	11	7	7	16	4	3	1	2	0	1	1	6	4	4	1	3	0	3	1	3	0	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:1212485C>T	ENST00000304460.10	+	4	605	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	183					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGCTCAACATCTCCACGTCCA	0.617													31	109					0	0	0	0	T	1212485	C	T	1212485	2	4	357	1	0	0	0	0	0	0	0	1	14770	903	32	2		2	SLC6A19	5	1212485	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	136961	1212485	179702775	217	67509											
SLC6A19	340024	broad.mit.edu	37	chr5	1214110	1214110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacctggctggacgcgggcGcacaggtcttcttctccttc	5	10	11	15	3	3	0	0	0	3	0	5	1	3	1	2	4	0	2	2	4	0	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:1214110G>A	ENST00000304460.10	+	6	873	c.817G>A	c.(817-819)Gca>Aca	p.A273T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	273					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGACGCGGGCGCACAGGTCTT	0.647													21	95					0	0	0	0	A	1214110	G	A	1214110	3	1	357	1	0	0	0	0	1	0	0	0	14770	1087	38	1	839	1	SLC6A19	5	1214110	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1625	1214110	179701150	218	67510											
SLC6A19	340024	broad.mit.edu	37	chr5	1219197	1219197	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctcagagtcatccccccGaagtggcccaaggaggtgct	9	6	12	14	1	2	1	2	0	0	1	3	4	3	2	5	3	1	1	5	3	2	0	rs139510678		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:1219197G>A	ENST00000304460.10	+	9	1409	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	451					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCATCCCCCCGAAGTGGCCCA	0.602													3	17					0	0	0	0	A	1219197	G	A	1219197	2	1	357	1	0	0	0	0	0	0	0	1	14770	1045	37	1		1	SLC6A19	5	1219197	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	5087	1219197	179696063	219	67511											
DNAH5	1767	broad.mit.edu	37	chr5	13776601	13776601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagtcaattgtgcatcctGaaattagggcagggaacttc	12	10	10	9	0	1	1	1	1	0	0	3	2	2	2	2	2	2	2	2	2	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:13776601G>A	ENST00000265104.4	-	55	9424	c.9320C>T	c.(9319-9321)tCa>tTa	p.S3107L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3107	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTGCATCCTGAAATTAGGGC	0.463									Kartagener syndrome				8	125					0	0	0	0	A	13776601	G	A	13776601	3	1	357	1	0	0	0	0	1	0	0	0	4641	1294	45	2	4654	2	DNAH5	5	13776601	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	12557404	13776601	167138659	220	67512											
MYO10	4651	broad.mit.edu	37	chr5	16701587	16701587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctcctcgcatgcgctctCagccagctcgctggaaaatt	7	11	8	15	3	2	0	1	0	2	0	6	1	2	1	2	1	3	4	2	1	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:16701587C>T	ENST00000513610.1	-	25	3371	c.2917G>A	c.(2917-2919)Gag>Aag	p.E973K	MYO10_ENST00000274203.9_Missense_Mutation_p.E330K|MYO10_ENST00000427430.2_Missense_Mutation_p.E330K|MYO10_ENST00000515803.1_Missense_Mutation_p.E312K|MYO10_ENST00000505695.1_Missense_Mutation_p.E312K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	973					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CATGCGCTCTCAGCCAGCTCG	0.587													11	46					0	0	0	0	T	16701587	C	T	16701587	3	4	357	1	0	0	0	0	1	0	0	0	10132	835	29	2	3327	2	MYO10	5	16701587	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2924986	16701587	164213673	221	67513											
NPR3	4883	broad.mit.edu	37	chr5	32712159	32712159	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgggactgggaggcggcttCtgccgccgggcactcgcttc	4	7	16	14	5	1	0	0	0	1	0	3	2	1	2	2	5	1	3	2	5	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:32712159C>G	ENST00000265074.8	+	1	620	c.277C>G	c.(277-279)Ctg>Gtg	p.L93V	NPR3_ENST00000415167.2_Missense_Mutation_p.L93V|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	93					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGGCGGCTTCTGCCGCCGGG	0.677													11	74					0	0	0	0	G	32712159	C	G	32712159	3	3	357	1	0	0	0	0	1	0	0	0	10667	912	32	2	279	2	NPR3	5	32712159	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	16010572	32712159	148203101	222	67514											
C6	729	broad.mit.edu	37	chr5	41150077	41150077	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catacaaatgcattcagatcCtgattgtttctgtcccagct	10	14	6	11	0	2	2	1	1	1	1	4	2	4	2	2	0	3	3	2	0	2	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:41150077C>G	ENST00000263413.3	-	16	2605	c.2341G>C	c.(2341-2343)Gga>Cga	p.G781R	C6_ENST00000337836.5_Missense_Mutation_p.G781R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	781	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CATTCAGATCCTGATTGTTTC	0.388													8	63					0	0	0	0	G	41150077	C	G	41150077	3	3	357	1	0	0	0	0	1	0	0	0	2336	690	24	4	475	4	C6	5	41150077	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	8437918	41150077	139765183	223	67515											
C5orf51	285636	broad.mit.edu	37	chr5	41907899	41907899	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaactcctgtgtggagaagaGaaagaatgttcaaatccatc	16	9	9	7	0	1	3	1	0	0	3	4	5	3	3	2	1	1	1	2	1	5	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:41907899G>C	ENST00000381647.2	+	2	181	c.162G>C	c.(160-162)gaG>gaC	p.E54D	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	54										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTGGAGAAGAGAAAGAATGTT	0.363													4	9					0	0	0	0	C	41907899	G	C	41907899	3	2	357	1	0	0	0	0	1	0	0	0	2329	933	33	2	168	2	C5orf51	5	41907899	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	757822	41907899	139007361	224	67516											
NNT	23530	broad.mit.edu	37	chr5	43659398	43659398	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaacaatctgctgaccatCgtgggtgcactcataggctc	11	9	9	12	1	2	1	1	1	1	0	4	1	2	1	1	2	4	3	1	2	4	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:43659398C>T	ENST00000264663.5	+	17	2801	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	NNT_ENST00000512996.2_Silent_p.I729I|NNT_ENST00000344920.4_Silent_p.I860I	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	860					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGCTGACCATCGTGGGTGCAC	0.507													14	41					0	0	0	0	T	43659398	C	T	43659398	2	4	357	1	0	0	0	0	0	0	0	1	10580	874	31	1		1	NNT	5	43659398	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1751499	43659398	137255862	225	67517											
ITGA2	3673	broad.mit.edu	37	chr5	52366052	52366052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagaatatggtagtaaatCaagcacagagttgccccgag	16	7	11	7	1	1	3	1	0	0	3	1	4	1	3	2	1	2	4	2	1	7	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:52366052C>G	ENST00000296585.5	+	17	2340	c.2197C>G	c.(2197-2199)Caa>Gaa	p.Q733E		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	733					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GGTAGTAAATCAAGCACAGAG	0.408													12	53					0	0	0	0	G	52366052	C	G	52366052	3	3	357	1	0	0	0	0	1	0	0	0	7928	827	29	2	2263	2	ITGA2	5	52366052	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	8706654	52366052	128549208	226	67518											
ITGA2	3673	broad.mit.edu	37	chr5	52371064	52371064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctatagtgaaagccaagaaGaaaacaaggctgataatttg	18	9	9	5	0	1	4	0	2	1	2	1	4	1	4	1	1	2	1	1	1	9	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:52371064G>A	ENST00000296585.5	+	23	2898	c.2755G>A	c.(2755-2757)Gaa>Aaa	p.E919K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	919					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AAGCCAAGAAGAAAACAAGGC	0.348													11	31					0	0	0	0	A	52371064	G	A	52371064	3	1	357	1	0	0	0	0	1	0	0	0	7928	943	33	2	2845	2	ITGA2	5	52371064	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	5012	52371064	128544196	227	67519											
SNX18	112574	broad.mit.edu	37	chr5	53815204	53815204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccagtccttccgcggcctCagccaggcctttgagctgga	5	8	13	15	2	1	1	1	1	0	0	3	2	3	2	6	4	2	1	6	4	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:53815204C>T	ENST00000343017.6	+	1	1616	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	SNX18_ENST00000326277.3_Silent_p.L474L|SNX18_ENST00000381410.4_Silent_p.L474L	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	474	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TCCGCGGCCTCAGCCAGGCCT	0.627													11	52					0	0	0	0	T	53815204	C	T	53815204	2	4	357	1	0	0	0	0	0	0	0	1	14977	813	29	2		2	SNX18	5	53815204	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1444140	53815204	127100056	228	67520											
PLK2	10769	broad.mit.edu	37	chr5	57754893	57754893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttatttgtcaaatctgtCatctcgtaacattttgcaaa	11	18	5	7	1	4	0	2	0	2	0	5	0	4	0	0	0	2	3	0	0	4	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:57754893C>T	ENST00000274289.3	-	2	597	c.297G>A	c.(295-297)atG>atA	p.M99I		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	99	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCAAATCTGTCATCTCGTAAC	0.393													11	84					0	0	0	0	T	57754893	C	T	57754893	3	4	357	1	0	0	0	0	1	0	0	0	12168	826	29	2	1812	2	PLK2	5	57754893	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3939689	57754893	123160367	229	67521											
NDUFAF2	91942	broad.mit.edu	37	chr5	60448648	60448648	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactcctgcctccaccagttCaaactcaaattaaaggccat	14	9	4	14	0	2	0	2	0	0	0	4	0	4	0	5	1	3	1	5	1	5	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:60448648C>G	ENST00000296597.5	+	4	503	c.376C>G	c.(376-378)Caa>Gaa	p.Q126E	NDUFAF2_ENST00000512623.1_3'UTR|NDUFAF2_ENST00000511107.1_3'UTR	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	126						membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TCCACCAGTTCAAACTCAAAT	0.423													3	11					0	0	0	0	G	60448648	C	G	60448648	3	3	357	1	0	0	0	0	1	0	0	0	10345	827	29	2	390	2	NDUFAF2	5	60448648	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2693755	60448648	120466612	230	67522											
NLN	57486	broad.mit.edu	37	chr5	65073341	65073341	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaaagaaatgggctccatCttcctgaacaagtacagaat	16	8	9	8	0	1	3	0	1	1	2	3	4	3	4	2	2	2	2	2	2	7	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:65073341C>G	ENST00000380985.5	+	4	716	c.538C>G	c.(538-540)Ctt>Gtt	p.L180V	NLN_ENST00000502464.1_Missense_Mutation_p.L76V	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	180					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGGGCTCCATCTTCCTGAACA	0.338													16	63					0	0	0	0	G	65073341	C	G	65073341	3	3	357	1	0	0	0	0	1	0	0	0	10537	913	32	2	552	2	NLN	5	65073341	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	4624693	65073341	115841919	231	67523											
COL4A3BP	10087	broad.mit.edu	37	chr5	74677016	74677016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattttggcacggacacatCggttgtttagctgccaaaac	10	13	9	9	2	0	0	0	0	0	0	1	1	0	1	1	3	3	4	1	3	4	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:74677016C>A	ENST00000380494.5	-	17	2305	c.2012G>T	c.(2011-2013)cGa>cTa	p.R671L	COL4A3BP_ENST00000405807.4_Missense_Mutation_p.R543L|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.R517L|COL4A3BP_ENST00000508692.1_5'UTR	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	543					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ACGGACACATCGGTTGTTTAG	0.383													15	87					0.000219431	0.000223495	1	0	A	74677016	C	A	74677016	3	1	357	1	0	0	0	0	1	0	0	0	3722	884	31	3	254	3	COL4A3BP	5	74677016	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	9603675	74677016	106238244	232	67524											
RASGRF2	5924	broad.mit.edu	37	chr5	80256689	80256689	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctggcacgagaagtggttCgccctctaccagaatgtgct	8	9	12	12	3	1	2	0	0	1	2	2	3	1	2	2	2	2	4	2	2	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:80256689C>T	ENST00000265080.4	+	1	199	c.132C>T	c.(130-132)ttC>ttT	p.F44F	CTC-459I6.1_ENST00000505694.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	44	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGAAGTGGTTCGCCCTCTACC	0.657													17	42					0	0	0	0	T	80256689	C	T	80256689	2	4	357	1	0	0	0	0	0	0	0	1	13155	883	31	1		1	RASGRF2	5	80256689	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	5579673	80256689	100658571	233	67525											
VCAN	1462	broad.mit.edu	37	chr5	82816809	82816809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactggtattgcagaaaagtCaactttgagagattctacaa	16	11	8	6	0	2	3	1	1	1	2	2	4	2	3	0	1	4	2	0	1	7	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:82816809C>T	ENST00000265077.3	+	7	3249	c.2684C>T	c.(2683-2685)tCa>tTa	p.S895L	VCAN_ENST00000342785.4_Missense_Mutation_p.S895L|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S847L|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	895	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCAGAAAAGTCAACTTTGAGA	0.403													16	117					0	0	0	0	T	82816809	C	T	82816809	3	4	357	1	0	0	0	0	1	0	0	0	17234	838	29	2	2706	2	VCAN	5	82816809	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2560120	82816809	98098451	234	67526											
DMXL1	1657	broad.mit.edu	37	chr5	118451886	118451886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaggtttggtataatgtaGaaaactggcggacagctgtt	12	12	13	4	1	0	2	0	1	0	1	0	3	0	3	0	4	2	5	0	4	6	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:118451886G>C	ENST00000311085.8	+	7	678	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.E200Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	200										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTATAATGTAGAAAACTGGCG	0.358													11	43					0	0	0	0	C	118451886	G	C	118451886	3	2	357	1	0	0	0	0	1	0	0	0	4631	943	33	2	624	2	DMXL1	5	118451886	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	35635077	118451886	62463374	235	67527											
FBN2	2201	broad.mit.edu	37	chr5	127666307	127666307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaaccttcggagcaggCacagcggtatgagcccgggg	10	5	16	10	3	0	2	0	2	0	0	1	3	0	3	2	5	4	3	2	5	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:127666307C>T	ENST00000508053.1	-	39	5277	c.4303G>A	c.(4303-4305)Gcc>Acc	p.A1435T	FBN2_ENST00000262464.4_Missense_Mutation_p.A1435T|FBN2_ENST00000507835.1_Missense_Mutation_p.A285T|FBN2_ENST00000508989.1_Missense_Mutation_p.A1402T			P35556	FBN2_HUMAN	fibrillin 2	1435	EGF-like 23; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCGGAGCAGGCACAGCGGTAT	0.502													15	53					0	0	0	0	T	127666307	C	T	127666307	3	4	357	1	0	0	0	0	1	0	0	0	5748	710	25	4	4567	4	FBN2	5	127666307	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	9214421	127666307	53248953	236	67528											
C5orf15	56951	broad.mit.edu	37	chr5	133295705	133295705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctcggtgaatcagtccgtGatacaactgaaacaaacaaa	16	7	9	9	2	1	3	1	3	0	0	3	3	2	3	1	2	4	1	1	2	6	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:133295705G>A	ENST00000231512.3	-	2	348	c.146C>T	c.(145-147)tCa>tTa	p.S49L	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	49						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			ATCAGTCCGTGATACAACTGA	0.368													5	20					0	0	0	0	A	133295705	G	A	133295705	3	1	357	1	0	0	0	0	1	0	0	0	2304	1294	45	2	659	2	C5orf15	5	133295705	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	5629398	133295705	47619555	237	67529											
CDC25C	995	broad.mit.edu	37	chr5	137666860	137666860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttgtggatgagaagagttCcgtagacatggtcttcgaat	10	13	12	6	2	2	3	0	1	2	3	4	6	3	4	1	2	0	2	1	2	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:137666860C>T	ENST00000323760.6	-	2	288	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	CDC25C_ENST00000348983.3_Missense_Mutation_p.E4K|CDC25C_ENST00000415130.2_Missense_Mutation_p.E4K|CDC25C_ENST00000356505.3_Missense_Mutation_p.E4K|CDC25C_ENST00000514555.1_Missense_Mutation_p.E4K|CDC25C_ENST00000513970.1_Missense_Mutation_p.E4K|CDC25C_ENST00000357274.3_Missense_Mutation_p.E4K	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	4					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGAAGAGTTCCGTAGACATG	0.453													21	45					0	0	0	0	T	137666860	C	T	137666860	3	4	357	1	0	0	0	0	1	0	0	0	3093	864	30	2	1463	2	CDC25C	5	137666860	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	4371155	137666860	43248400	238	67530											
WDR55	54853	broad.mit.edu	37	chr5	140048500	140048500	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatggctgccttggcatcttCaacattaagaggcgtcggtt	8	12	12	9	2	2	1	1	0	1	1	3	2	2	1	1	4	2	3	1	4	2	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:140048500C>G	ENST00000358337.5	+	5	822	c.585C>G	c.(583-585)ttC>ttG	p.F195L		NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	195					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCATCTTCAACATTAAGA	0.527													12	55					0	0	0	0	G	140048500	C	G	140048500	3	3	357	1	0	0	0	0	1	0	0	0	17403	825	29	2	603	2	WDR55	5	140048500	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2381640	140048500	40866760	239	67531											
PCDHB12	56124	broad.mit.edu	37	chr5	140590277	140590277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtgactcgggccagaacGcctggctgtcgtaccagctg	7	7	14	13	4	0	2	0	1	0	1	2	2	0	2	3	3	3	3	3	3	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:140590277G>A	ENST00000239450.2	+	1	1987	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		600	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A600T(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.716													21	286					0	0	0	0	A	140590277	G	A	140590277	3	1	357	1	0	0	0	0	1	0	0	0	11608	1087	38	1	1800	1	PCDHB12	5	140590277	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	541777	140590277	40324983	240	67532											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719228	140719228	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcacctcccgcatctgcgtGaaggtcctggatgcgaacga	8	7	13	13	4	1	1	0	1	1	0	3	4	3	2	3	3	3	2	3	3	2	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:140719228G>A	ENST00000394576.2	+	1	690	c.690G>A	c.(688-690)gtG>gtA	p.V230V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCTGCGTGAAGGTCCTGG	0.592													4	100					0	0	0	0	A	140719228	G	A	140719228	2	1	357	1	0	0	0	0	0	0	0	1	11625	1277	45	2		2	PCDHGA2	5	140719228	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	128951	140719228	40196032	241	67533											
DIAPH1	1729	broad.mit.edu	37	chr5	140908745	140908745	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctcactcaccaccacGccaaactgctctgactcagc	10	6	6	19	1	4	1	3	1	1	0	4	1	4	1	4	1	3	1	4	1	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:140908745G>A	ENST00000253811.6	-	21	2915	c.2775C>T	c.(2773-2775)ggC>ggT	p.G925G	DIAPH1_ENST00000398557.4_Silent_p.G924G|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000398562.2_Silent_p.G900G|DIAPH1_ENST00000398566.3_Silent_p.G916G|DIAPH1_ENST00000389054.3_Silent_p.G921G|DIAPH1_ENST00000389057.5_Silent_p.G915G|DIAPH1_ENST00000520569.1_Silent_p.G867G|DIAPH1_ENST00000518047.1_Silent_p.G912G			O60610	DIAP1_HUMAN	diaphanous-related formin 1	924	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCACCACGCCAAACTGCT	0.512													4	113					0	0	0	0	A	140908745	G	A	140908745	2	1	357	1	0	0	0	0	0	0	0	1	4555	1074	38	1		1	DIAPH1	5	140908745	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	189517	140908745	40006515	242	67534											
SH3TC2	79628	broad.mit.edu	37	chr5	148388505	148388505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagctctgtcagcttattGaaaatccggagctcagttct	9	13	9	10	1	4	1	2	1	2	0	5	2	5	2	1	1	4	5	1	1	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:148388505G>A	ENST00000538184.1	-	11	2916	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	SH3TC2_ENST00000515425.1_Silent_p.F1129F|SH3TC2_ENST00000512049.1_Silent_p.F1122F			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1129							binding			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)			TCAGCTTATTGAAAATCCGGA	0.527													32	127					0	0	0	0	A	148388505	G	A	148388505	2	1	357	1	0	0	0	0	0	0	0	1	14350	1281	45	2		2	SH3TC2	5	148388505	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	7479760	148388505	32526755	243	67535											
TNIP1	10318	broad.mit.edu	37	chr5	150410275	150410275	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatgacacaatctggtctCactgaggcccctcacggtca	11	8	8	14	1	4	2	3	2	2	0	5	2	4	2	2	3	0	0	2	3	2	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:150410275C>G	ENST00000389378.2	-	18	2498	c.1910G>C	c.(1909-1911)tGa>tCa	p.*637S	TNIP1_ENST00000518977.1_Intron|TNIP1_ENST00000315050.7_Nonstop_Mutation_p.*637S|TNIP1_ENST00000521591.1_Nonstop_Mutation_p.*637S|TNIP1_ENST00000523338.1_Intron|TNIP1_ENST00000523200.1_Nonstop_Mutation_p.*573S|TNIP1_ENST00000522226.1_Nonstop_Mutation_p.*637S|TNIP1_ENST00000520931.1_Nonstop_Mutation_p.*584S|TNIP1_ENST00000524280.1_Missense_Mutation_p.E541Q	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	0					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATCTGGTCTCACTGAGGCCC	0.458													10	35					0	0	0	0	G	150410275	C	G	150410275	4	3	357	1	0	0	0	0	0	0	0	0	16408	837	29	2	4	2	TNIP1	5	150410275	Nonstop_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2021770	150410275	30504985	244	67536											
TIMD4	91937	broad.mit.edu	37	chr5	156381553	156381553	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcaaggagacatcacctctCgggatagtcccctgaagtct	10	9	10	12	1	4	2	2	1	2	1	6	4	5	3	3	2	0	0	3	2	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:156381553C>T	ENST00000274532.2	-	2	329	c.273G>A	c.(271-273)ccG>ccA	p.P91P	TIMD4_ENST00000407087.3_Silent_p.P91P	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	91	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCACCTCTCGGGATAGTCC	0.517													15	57					0	0	0	0	T	156381553	C	T	156381553	2	4	357	1	0	0	0	0	0	0	0	1	15997	871	31	1		1	TIMD4	5	156381553	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	5971278	156381553	24533707	245	67537											
CYFIP2	26999	broad.mit.edu	37	chr5	156753273	156753273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtacgatgagatagaagctGaggcaagtgatgtgcttctc	11	11	13	6	1	1	4	0	3	1	2	2	6	1	4	0	1	3	4	0	1	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:156753273G>A	ENST00000347377.6	+	18	2508	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	CYFIP2_ENST00000522463.1_Missense_Mutation_p.E497K|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E693K|CYFIP2_ENST00000521420.1_Missense_Mutation_p.E667K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E718K|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E618K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E392K	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	718					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATAGAAGCTGAGGCAAGTGA	0.433													19	92					0	0	0	0	A	156753273	G	A	156753273	3	1	357	1	0	0	0	0	1	0	0	0	4170	1291	45	2	2143	2	CYFIP2	5	156753273	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	371720	156753273	24161987	246	67538											
CLINT1	9685	broad.mit.edu	37	chr5	157236727	157236727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttatcactcagctcacCtaatttatcactgaatggaa	14	14	4	9	0	4	1	4	1	0	0	4	2	4	2	1	1	1	1	1	1	6	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:157236727C>T	ENST00000523094.1	-	6	755	c.550G>A	c.(550-552)Ggt>Agt	p.G184S	CLINT1_ENST00000296951.5_Missense_Mutation_p.G184S|CLINT1_ENST00000523908.1_Missense_Mutation_p.G202S|CLINT1_ENST00000530742.1_Missense_Mutation_p.G184S|CLINT1_ENST00000411809.2_Missense_Mutation_p.G202S	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	202					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	p.G184C(2)|p.G184S(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCAGCTCACCTAATTTATCA	0.398													15	63					0	0	0	0	T	157236727	C	T	157236727	3	4	357	1	0	0	0	0	1	0	0	0	3561	681	24	4	1301	4	CLINT1	5	157236727	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	483454	157236727	23678533	247	67539											
SLIT3	6586	broad.mit.edu	37	chr5	168620509	168620509	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgagcttcggcgtgctctgGaaaagcaattctggaaggac	10	9	14	8	2	2	1	0	1	2	0	3	4	2	4	0	4	3	3	0	4	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:168620509G>A	ENST00000519560.1	-	4	806	c.387C>T	c.(385-387)ttC>ttT	p.F129F	SLIT3_ENST00000332966.8_Silent_p.F129F|SLIT3_ENST00000404867.3_Silent_p.F129F|SLIT3_ENST00000521130.1_5'UTR	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	129					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGTGCTCTGGAAAAGCAATT	0.493													13	68					0	0	0	0	A	168620509	G	A	168620509	2	1	357	1	0	0	0	0	0	0	0	1	14829	1165	41	2		2	SLIT3	5	168620509	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	11383782	168620509	12294751	248	67540											
FBXW11	23291	broad.mit.edu	37	chr5	171305024	171305024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcactcacctcaccgtaGaatctgaagagccagttaca	14	8	7	12	1	4	4	3	1	1	3	4	4	4	4	3	0	2	2	3	0	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:171305024G>C	ENST00000296933.6	-	7	1230	c.860C>G	c.(859-861)tCt>tGt	p.S287C	FBXW11_ENST00000393802.2_Missense_Mutation_p.S266C|FBXW11_ENST00000265094.5_Missense_Mutation_p.S300C|FBXW11_ENST00000425623.2_Missense_Mutation_p.S268C|FBXW11_ENST00000522891.1_5'UTR	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	300					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTCACCGTAGAATCTGAAGA	0.458													13	36					0	0	0	0	C	171305024	G	C	171305024	3	2	357	1	0	0	0	0	1	0	0	0	5809	942	33	2	753	2	FBXW11	5	171305024	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2684515	171305024	9610236	249	67541											
EIF4E1B	253314	broad.mit.edu	37	chr5	176070095	176070095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctcaggtgagtgaagctGagggtggaatccgagagtgg	9	8	19	5	1	1	4	1	3	0	1	2	6	2	5	1	5	1	2	1	5	2	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:176070095G>A	ENST00000318682.6	+	4	612	c.28G>A	c.(28-30)Gag>Aag	p.E10K	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.E10K	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	10					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTGAAGCTGAGGGTGGAAT	0.597													7	17					0	0	0	0	A	176070095	G	A	176070095	3	1	357	1	0	0	0	0	1	0	0	0	5067	1291	45	2	34	2	EIF4E1B	5	176070095	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4765071	176070095	4845165	250	67542											
DDX41	51428	broad.mit.edu	37	chr5	176943934	176943934	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcctaccttccgttcgggttCcgactcctccattctttgct	3	16	6	16	3	1	0	0	0	1	0	7	1	6	0	6	1	2	3	6	1	1	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:176943934C>G	ENST00000507955.1	-	1	536	c.13G>C	c.(13-15)Gaa>Caa	p.E5Q	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	5					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CGTTCGGGTTCCGACTCCTCC	0.662													13	45					0	0	0	0	G	176943934	C	G	176943934	3	3	357	1	0	0	0	0	1	0	0	0	4393	864	30	2	1923	2	DDX41	5	176943934	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	873839	176943934	3971326	251	67543											
PHACTR1	221692	broad.mit.edu	37	chr6	12749886	12749886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccctctcagctcgccgggcGaccctgctcctgcctcccac	3	8	8	22	3	1	0	1	0	1	0	6	1	4	0	6	1	3	2	6	1	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:12749886G>A	ENST00000379350.1	+	3	243	c.114G>A	c.(112-114)gcG>gcA	p.A38A	PHACTR1_ENST00000332995.7_Silent_p.A38A|PHACTR1_ENST00000379348.2_Silent_p.A38A			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	38						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTCGCCGGGCGACCCTGCTCC	0.677													4	29					0	0	0	0	A	12749886	G	A	12749886	2	1	357	1	0	0	0	0	0	0	0	1	11881	1045	37	1		1	PHACTR1	6	12749886	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08		12749886	158365181	252	67544											
PHACTR1	221692	broad.mit.edu	37	chr6	12749926	12749926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cattaatggcggcatcctcgGaggatgatatagaccggcgg	10	8	14	9	4	0	2	0	1	0	1	2	4	1	4	2	6	0	1	2	6	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:12749926G>A	ENST00000379350.1	+	3	283	c.154G>A	c.(154-156)Gag>Aag	p.E52K	PHACTR1_ENST00000332995.7_Missense_Mutation_p.E52K|PHACTR1_ENST00000379348.2_Missense_Mutation_p.E52K			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	52						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGCATCCTCGGAGGATGATAT	0.642													6	49					0	0	0	0	A	12749926	G	A	12749926	3	1	357	1	0	0	0	0	1	0	0	0	11881	1175	41	2	160	2	PHACTR1	6	12749926	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	40	12749926	158365141	253	67545											
KIAA0319	9856	broad.mit.edu	37	chr6	24578429	24578429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgaagggcccgtttatttCttcccaatgataactcacta	11	14	6	10	1	2	2	1	2	1	0	3	2	3	2	2	1	1	1	2	1	6	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:24578429C>G	ENST00000535378.1	-	10	2029	c.1387G>C	c.(1387-1389)Gaa>Caa	p.E463Q	KIAA0319_ENST00000543707.1_Missense_Mutation_p.E472Q|KIAA0319_ENST00000537886.1_Missense_Mutation_p.E472Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E427Q|KIAA0319_ENST00000378214.3_Missense_Mutation_p.E472Q	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	472	PKD 2.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCGTTTATTTCTTCCCAATGA	0.373													9	44					0	0	0	0	G	24578429	C	G	24578429	3	3	357	1	0	0	0	0	1	0	0	0	8219	922	32	2	1856	2	KIAA0319	6	24578429	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	11828503	24578429	146536638	254	67546											
BTN3A3	10384	broad.mit.edu	37	chr6	26446172	26446172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcctgcatcatcagaaattCcctcctcggcctggaaaaga	12	9	7	13	1	2	2	2	0	0	2	6	3	5	3	4	2	1	1	4	2	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:26446172C>T	ENST00000244519.2	+	5	917	c.674C>T	c.(673-675)tCc>tTc	p.S225F	BTN3A3_ENST00000361232.3_Missense_Mutation_p.S183F|BTN3A3_ENST00000339789.4_Missense_Mutation_p.S183F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	225	Ig-like V-type 2.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATCAGAAATTCCCTCCTCGGC	0.557													26	122					0	0	0	0	T	26446172	C	T	26446172	3	4	357	1	0	0	0	0	1	0	0	0	1573	855	30	2	684	2	BTN3A3	6	26446172	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1867743	26446172	144668895	255	67547											
OR2B2	81697	broad.mit.edu	37	chr6	27879441	27879441	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacactgcttggacaataaaAgcatacgatataaggatgag	18	8	9	6	1	0	1	0	1	0	0	0	4	0	3	0	2	4	2	0	2	7	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:27879441A>G	ENST00000303324.2	-	1	733	c.657T>C	c.(655-657)gcT>gcC	p.A219A		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GGACAATAAAAGCATACGATA	0.423													4	73					0	0	0	0	G	27879441	A	G	27879441	2	3	357	1	0	0	0	0	0	0	0	1	11060	59	3	5		5	OR2B2	6	27879441	Silent	SNP	A	TCGA-CV-A6K2-01A-11D-A31L-08	1433269	27879441	143235626	256	67548											
OR2W1	26692	broad.mit.edu	37	chr6	29012229	29012229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactacagtaagatgagatcCacaggtattcattgcttttc	12	13	7	9	0	1	2	1	1	0	2	3	3	2	2	1	1	2	3	1	1	3	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:29012229C>T	ENST00000377175.1	-	1	788	c.724G>A	c.(724-726)Gga>Aga	p.G242R		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGATGAGATCCACAGGTATTC	0.438													18	92					0	0	0	0	T	29012229	C	T	29012229	3	4	357	1	0	0	0	0	1	0	0	0	11103	603	21	4	242	4	OR2W1	6	29012229	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1132788	29012229	142102838	257	67549											
HLA-A	3105	broad.mit.edu	37	chr6	29910587	29910587	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcccggcccggccgcgggGagccccgcttcatcgccgtg	2	6	15	18	7	1	0	1	0	0	0	3	1	2	1	6	4	1	1	6	4	0	1	rs41549014		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:29910587G>T	ENST00000396634.1	+	4	468	c.127G>T	c.(127-129)Gag>Tag	p.E43*	HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E43*			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	43	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.E43*(1)|p.R41fs*31(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGCCGCGGGGAGCCCCGCTT	0.706									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			10	26					4.68919e-08	4.86075e-08	1	0	T	29910587	G	T	29910587	4	4	357	1	0	0	0	0	0	1	0	0	7245	1175	41	2	133	2	HLA-A	6	29910587	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	898358	29910587	141204480	258	67550											
GTF2H4	2968	broad.mit.edu	37	chr6	30879235	30879235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatggacctggtagagattCtctccttcctcttccagctc	6	13	8	14	0	2	1	0	0	2	1	7	3	5	2	4	2	1	3	4	2	1	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:30879235C>T	ENST00000259895.4	+	8	923	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F	GTF2H4_ENST00000539324.1_Missense_Mutation_p.L178F|GTF2H4_ENST00000376316.2_Missense_Mutation_p.L234F	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	234					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GGTAGAGATTCTCTCCTTCCT	0.542								Nucleotide excision repair (NER)					32	105					0	0	0	0	T	30879235	C	T	30879235	3	4	357	1	0	0	0	0	1	0	0	0	6915	913	32	2	726	2	GTF2H4	6	30879235	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	968648	30879235	140235832	259	67551											
HLA-B	3106	broad.mit.edu	37	chr6	31322897	31322897	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tccctacctgaactcttcctCctacacatcacagcagcgac	10	9	4	18	1	2	1	1	1	1	0	5	2	5	1	4	0	5	1	4	0	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:31322897C>G	ENST00000412585.2	-	5	1027	c.999G>C	c.(997-999)agG>agC	p.R333S		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AACTCTTCCTCCTACACATCA	0.582									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				20	118					0	0	0	0	G	31322897	C	G	31322897	3	3	357	1	0	0	0	0	1	0	0	0	7246	854	30	2	101	2	HLA-B	6	31322897	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	443662	31322897	139792170	260	67552											
LTA	4049	broad.mit.edu	37	chr6	31541366	31541366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgatgtaccacggggctGcgttccagctcacccaggga	8	7	12	14	3	1	0	1	0	0	0	3	2	2	1	3	3	3	4	3	3	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:31541366G>A	ENST00000454783.1	+	4	772	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	LTA_ENST00000418386.2_Missense_Mutation_p.A172T	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	172					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCACGGGGCTGCGTTCCAGCT	0.597													60	211					0	0	0	0	A	31541366	G	A	31541366	3	1	357	1	0	0	0	0	1	0	0	0	9132	1319	46	4	524	4	LTA	6	31541366	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	218469	31541366	139573701	261	67553											
PBX2	5089	broad.mit.edu	37	chr6	32157485	32157485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactcacttggcctgggcctCgtccaggctctggtcggtga	4	10	13	14	2	2	1	1	1	1	0	5	1	3	1	3	5	0	1	3	5	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:32157485C>T	ENST00000375050.4	-	1	478	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	70							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GCCTGGGCCTCGTCCAGGCTC	0.647													13	39					0	0	0	0	T	32157485	C	T	32157485	3	4	357	1	0	0	0	0	1	0	0	0	11564	893	31	1	1120	1	PBX2	6	32157485	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	616119	32157485	138957582	262	67554											
COL11A2	1302	broad.mit.edu	37	chr6	33148774	33148774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccagggggcccctccacGagcataccctgtggagtcaa	8	5	14	14	1	1	0	1	0	0	0	2	2	2	1	5	4	2	1	5	4	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33148774G>A	ENST00000341947.2	-	10	1415	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	COL11A2_ENST00000357486.1_Silent_p.L375L|COL11A2_ENST00000361917.1_Silent_p.L289L|COL11A2_ENST00000374713.1_Silent_p.L349L|COL11A2_ENST00000374712.1_Silent_p.L315L|COL11A2_ENST00000374708.4_Silent_p.L310L|COL11A2_ENST00000395197.1_Silent_p.L336L|COL11A2_ENST00000374714.1_Silent_p.L370L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	396	Nonhelical 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						GCCCCTCCACGAGCATACCCT	0.552													15	78					0	0	0	0	A	33148774	G	A	33148774	2	1	357	1	0	0	0	0	0	0	0	1	3698	1045	37	1		1	COL11A2	6	33148774	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	991289	33148774	137966293	263	67555											
HSD17B8	7923	broad.mit.edu	37	chr6	33174212	33174212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatacatcacagggacctCagtggaagtcactggtatga	12	9	12	8	0	3	1	3	1	0	0	3	4	3	4	1	4	1	1	1	4	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33174212C>T	ENST00000374662.3	+	8	782	c.755C>T	c.(754-756)tCa>tTa	p.S252L	HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	252					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9					NADH(DB00157)	ACAGGGACCTCAGTGGAAGTC	0.517													21	67					0	0	0	0	T	33174212	C	T	33174212	3	4	357	1	0	0	0	0	1	0	0	0	7439	838	29	2	785	2	HSD17B8	6	33174212	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	25438	33174212	137940855	264	67556											
DAXX	1616	broad.mit.edu	37	chr6	33289578	33289578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctggccccatgaggctcaGaggagctaggggcttctgcc	6	8	14	13	0	3	2	1	1	2	1	3	3	3	3	3	5	2	3	3	5	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33289578G>A	ENST00000374542.5	-	2	329	c.125C>T	c.(124-126)tCt>tTt	p.S42F	DAXX_ENST00000266000.6_Missense_Mutation_p.S42F|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	42	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						ATGAGGCTCAGAGGAGCTAGG	0.587			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								6	300					0	0	0	0	A	33289578	G	A	33289578	3	1	357	1	0	0	0	0	1	0	0	0	4276	942	33	2	2125	2	DAXX	6	33289578	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	115366	33289578	137825489	265	67557											
ZBTB9	221504	broad.mit.edu	37	chr6	33423398	33423398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctggtgcattcgctcttCgcctttccagaccccagtac	6	11	9	15	2	1	1	0	0	1	1	4	1	2	1	4	2	2	4	4	2	1	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33423398C>T	ENST00000395064.2	+	2	789	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						ATTCGCTCTTCGCCTTTCCAG	0.542													27	130					0	0	0	0	T	33423398	C	T	33423398	3	4	357	1	0	0	0	0	1	0	0	0	17653	893	31	1	523	1	ZBTB9	6	33423398	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	133820	33423398	137691669	266	67558											
ITPR3	3710	broad.mit.edu	37	chr6	33633651	33633651	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacctggtgttctttgtCagcgatgtccccaacaatgg	9	11	11	10	1	2	1	1	0	1	1	3	3	3	1	3	2	2	1	3	2	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33633651C>A	ENST00000374316.5	+	15	2509	c.1449C>A	c.(1447-1449)gtC>gtA	p.V483V	ITPR3_ENST00000605930.1_Silent_p.V483V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	483					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGTTCTTTGTCAGCGATGTCC	0.562													6	53					5.4927e-09	5.70631e-09	1	0	A	33633651	C	A	33633651	2	1	357	1	0	0	0	0	0	0	0	1	7975	813	29	2		2	ITPR3	6	33633651	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	210253	33633651	137481416	267	67559											
LEMD2	221496	broad.mit.edu	37	chr6	33744954	33744954	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcatacatggcttgttcctCctcttctaactttcgccacc	6	15	4	16	1	3	0	1	0	2	0	6	0	5	0	4	1	2	2	4	1	2	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33744954C>G	ENST00000293760.5	-	7	1238	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Missense_Mutation_p.E105Q	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	407	Poly-Glu.					integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GCTTGTTCCTCCTCTTCTAAC	0.493													53	221					0	0	0	0	G	33744954	C	G	33744954	3	3	357	1	0	0	0	0	1	0	0	0	8773	864	30	2	304	2	LEMD2	6	33744954	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	111303	33744954	137370113	268	67560											
SLC26A8	116369	broad.mit.edu	37	chr6	35987332	35987332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctgaaggtggtgatgttGatgttcatgttcccagaaga	9	14	13	5	0	2	5	1	3	1	2	3	5	3	5	1	2	0	3	1	2	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:35987332G>C	ENST00000490799.1	-	2	506	c.153C>G	c.(151-153)atC>atG	p.I51M	SLC26A8_ENST00000355574.2_Missense_Mutation_p.I51M|SLC26A8_ENST00000394602.2_Missense_Mutation_p.I51M	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	51					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGGTGATGTTGATGTTCATGT	0.498													3	28					0	0	0	0	C	35987332	G	C	35987332	3	2	357	1	0	0	0	0	1	0	0	0	14611	1280	45	2	2835	2	SLC26A8	6	35987332	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2242378	35987332	135127735	269	67561											
DNAH8	1769	broad.mit.edu	37	chr6	38831661	38831661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgccaggtcttgcacagtCgggttcctggggctgttttg	4	13	14	10	1	1	0	0	0	1	0	3	0	2	0	2	4	2	4	2	4	0	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:38831661C>T	ENST00000359357.3	+	43	5926	c.5672C>T	c.(5671-5673)tCg>tTg	p.S1891L	DNAH8_ENST00000441566.1_Missense_Mutation_p.S1891L|DNAH8_ENST00000449981.2_Missense_Mutation_p.S2108L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTGCACAGTCGGGTTCCTGG	0.358													11	60					0	0	0	0	T	38831661	C	T	38831661	3	4	357	1	0	0	0	0	1	0	0	0	4643	893	31	1	5834	1	DNAH8	6	38831661	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2844329	38831661	132283406	270	67562											
KIF6	221458	broad.mit.edu	37	chr6	39554039	39554039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaagagcccacatacatCaagattccttttctccaagg	15	9	6	11	0	2	3	1	0	1	3	4	3	3	3	3	1	2	0	3	1	5	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:39554039C>T	ENST00000287152.7	-	8	1082	c.988G>A	c.(988-990)Gat>Aat	p.D330N	KIF6_ENST00000373213.4_Missense_Mutation_p.D169N|KIF6_ENST00000373216.3_Missense_Mutation_p.D330N|KIF6_ENST00000538893.1_Missense_Mutation_p.D330N|KIF6_ENST00000373215.3_Missense_Mutation_p.D330N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	330					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.D330Y(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCACATACATCAAGATTCCTT	0.438													16	87					0	0	0	0	T	39554039	C	T	39554039	3	4	357	1	0	0	0	0	1	0	0	0	8359	826	29	2	1520	2	KIF6	6	39554039	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	722378	39554039	131561028	271	67563											
PTK7	5754	broad.mit.edu	37	chr6	43098305	43098305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtggtagtagcgaggtatGaggaggccatgttccattgc	9	10	15	7	2	0	1	0	1	0	0	1	3	1	2	2	4	2	4	2	4	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:43098305G>A	ENST00000230419.4	+	5	939	c.718G>A	c.(718-720)Gag>Aag	p.E240K	PTK7_ENST00000481273.1_Missense_Mutation_p.E248K|PTK7_ENST00000352931.2_Missense_Mutation_p.E240K|PTK7_ENST00000345201.2_Missense_Mutation_p.E240K|PTK7_ENST00000349241.2_Missense_Mutation_p.E240K|PTK7_ENST00000471863.1_Missense_Mutation_p.E240K	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	240	Ig-like C2-type 3.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCGAGGTATGAGGAGGCCAT	0.597													8	35					0	0	0	0	A	43098305	G	A	43098305	3	1	357	1	0	0	0	0	1	0	0	0	12845	1291	45	2	736	2	PTK7	6	43098305	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3544266	43098305	128016762	272	67564											
TTBK1	84630	broad.mit.edu	37	chr6	43220516	43220516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggggctttggtgagatctacGaggccatggacctgctgacc	7	9	15	10	1	1	2	0	2	1	1	1	5	1	3	3	5	2	2	3	5	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:43220516G>C	ENST00000259750.4	+	3	231	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	TTBK1_ENST00000304139.5_5'UTR	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	50	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGAGATCTACGAGGCCATGGA	0.592													26	98					0	0	0	0	C	43220516	G	C	43220516	3	2	357	1	0	0	0	0	1	0	0	0	16772	1059	37	3	154	3	TTBK1	6	43220516	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	122211	43220516	127894551	273	67565											
YIPF3	25844	broad.mit.edu	37	chr6	43483629	43483629	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggattcaatcttgcttacctGatctgccacctgccggctca	7	12	8	14	1	4	1	2	1	2	0	4	2	4	2	4	2	4	2	4	2	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:43483629G>A	ENST00000372422.2	-	2	468	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	YIPF3_ENST00000506469.1_Nonsense_Mutation_p.Q102*	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	96					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TTGCTTACCTGATCTGCCACC	0.532													20	98					0	0	0	0	A	43483629	G	A	43483629	4	1	357	1	0	0	0	0	0	1	0	0	17575	1299	45	2	798	2	YIPF3	6	43483629	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	263113	43483629	127631438	274	67566											
RHAG	6005	broad.mit.edu	37	chr6	49586894	49586894	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagtaaggatgctcacttTttgattccaatgttaaattt	12	16	6	7	0	1	1	1	1	0	0	2	2	2	2	1	1	1	3	1	1	4	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:49586894T>A	ENST00000371175.4	-	2	365	c.339A>T	c.(337-339)aaA>aaT	p.K113N	RHAG_ENST00000229810.7_Missense_Mutation_p.K113N	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	113					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATGCTCACTTTTTGATTCCAA	0.448													9	30					0	0	0	0	A	49586894	T	A	49586894	3	1	357	1	0	0	0	0	1	0	0	0	13398	1838	64	5	926	5	RHAG	6	49586894	Missense_Mutation	SNP	T	TCGA-CV-A6K2-01A-11D-A31L-08	6103265	49586894	121528173	275	67567											
PKHD1	5314	broad.mit.edu	37	chr6	51613356	51613356	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgccacagctctggtgcaGagtagatgatatgatccagg	10	8	12	11	1	1	4	0	2	1	2	2	4	2	4	3	2	2	3	3	2	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:51613356G>A	ENST00000371117.3	-	58	9333	c.9058C>T	c.(9058-9060)Ctg>Ttg	p.L3020L	PKHD1_ENST00000340994.4_Silent_p.L3020L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3020					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTCTGGTGCAGAGTAGATGAT	0.443													16	48					0	0	0	0	A	51613356	G	A	51613356	2	1	357	1	0	0	0	0	0	0	0	1	12043	933	33	2		2	PKHD1	6	51613356	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2026462	51613356	119501711	276	67568											
GFRAL	389400	broad.mit.edu	37	chr6	55216296	55216296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagtccaaagaagctcttCacagcaagacatgtgcagtg	14	7	10	10	0	2	2	1	0	1	2	3	2	3	2	1	0	4	4	1	0	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:55216296C>T	ENST00000340465.2	+	5	702	c.616C>T	c.(616-618)Cac>Tac	p.H206Y		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	206						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGAAGCTCTTCACAGCAAGAC	0.423													20	75					0	0	0	0	T	55216296	C	T	55216296	3	4	357	1	0	0	0	0	1	0	0	0	6402	826	29	2	634	2	GFRAL	6	55216296	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3602940	55216296	115898771	277	67569											
SMAP1	60682	broad.mit.edu	37	chr6	71570016	71570016	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcatcaggtcagactctCagcacacaactgtggaaatg	13	8	9	11	0	4	1	4	0	1	1	5	2	4	2	0	2	3	2	0	2	2	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:71570016C>G	ENST00000370455.3	+	11	1631	c.1383C>G	c.(1381-1383)ctC>ctG	p.L461L	B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000370452.3_3'UTR|SMAP1_ENST00000316999.5_Silent_p.L434L	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	461					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GTCAGACTCTCAGCACACAAC	0.483													17	75					0	0	0	0	G	71570016	C	G	71570016	2	3	357	1	0	0	0	0	0	0	0	1	14854	813	29	2		2	SMAP1	6	71570016	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	16353720	71570016	99545051	278	67570											
SLC17A5	26503	broad.mit.edu	37	chr6	74325154	74325154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagcctaaataaggcaatGaagataaaaacccattctgg	19	7	8	7	0	1	3	0	1	1	2	1	3	1	3	2	2	2	1	2	2	9	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:74325154G>A	ENST00000355773.5	-	8	1263	c.995C>T	c.(994-996)tCa>tTa	p.S332L	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	332					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATAAGGCAATGAAGATAAAAA	0.368													10	36					0	0	0	0	A	74325154	G	A	74325154	3	1	357	1	0	0	0	0	1	0	0	0	14508	1294	45	2	508	2	SLC17A5	6	74325154	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2755138	74325154	96789913	279	67571											
ZNF292	23036	broad.mit.edu	37	chr6	87966217	87966217	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttggaaagcaagaaaactCaactgtggaaggcagtggtg	14	8	13	6	0	1	1	1	0	0	1	1	3	1	3	0	4	3	2	0	4	6	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:87966217C>G	ENST00000369577.3	+	8	2913	c.2870C>G	c.(2869-2871)tCa>tGa	p.S957*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.S952*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	957					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAAGAAAACTCAACTGTGGAA	0.438													4	76					0	0	0	0	G	87966217	C	G	87966217	4	3	357	1	0	0	0	0	0	1	0	0	17921	838	29	2	2900	2	ZNF292	6	87966217	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	13641063	87966217	83148850	280	67572											
GJA10	84694	broad.mit.edu	37	chr6	90605134	90605134	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcaacttgaagtagacccttCcaatgggaaaaaggactggt	14	8	11	8	0	0	2	0	1	0	1	1	4	1	4	2	3	1	2	2	3	6	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:90605134C>G	ENST00000369352.1	+	1	947	c.947C>G	c.(946-948)tCc>tGc	p.S316C		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	316					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GTAGACCCTTCCAATGGGAAA	0.498													9	47					0	0	0	0	G	90605134	C	G	90605134	3	3	357	1	0	0	0	0	1	0	0	0	6452	855	30	2	949	2	GJA10	6	90605134	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2638917	90605134	80509933	281	67573											
MICAL1	64780	broad.mit.edu	37	chr6	109771177	109771177	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaactcaggtcttaccgctCagccaacacctctagggact	10	9	7	15	1	5	0	3	0	2	0	5	1	5	1	3	2	4	1	3	2	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:109771177C>G	ENST00000368952.4	-	9	1650	c.1360G>C	c.(1360-1362)Gag>Cag	p.E454Q	MICAL1_ENST00000358807.3_Missense_Mutation_p.E435Q|MICAL1_ENST00000358577.3_Missense_Mutation_p.E349Q			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	435					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTTACCGCTCAGCCAACACC	0.607													58	338					0	0	0	0	G	109771177	C	G	109771177	3	3	357	1	0	0	0	0	1	0	0	0	9638	835	29	2	1968	2	MICAL1	6	109771177	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	19166043	109771177	61343890	282	67574											
COL10A1	1300	broad.mit.edu	37	chr6	116443107	116443107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaccaggagtaccttgctCtcctcttactgctataccta	8	13	7	13	0	2	0	0	0	2	0	3	2	2	2	4	2	5	3	4	2	5	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:116443107C>G	ENST00000327673.4	-	2	579	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	COL10A1_ENST00000243222.4_Missense_Mutation_p.E58Q|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	58	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GTACCTTGCTCTCCTCTTACT	0.517													24	128					0	0	0	0	G	116443107	C	G	116443107	3	3	357	1	0	0	0	0	1	0	0	0	3696	922	32	2	1874	2	COL10A1	6	116443107	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	6671930	116443107	54671960	283	67575											
FAM184A	79632	broad.mit.edu	37	chr6	119345435	119345435	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgttcaagtcttagctcctCaagcattttgtttagggact	8	15	8	10	1	3	0	2	0	1	0	4	1	4	1	2	1	2	4	2	1	4	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:119345435C>G	ENST00000338891.7	-	2	1146	c.703G>C	c.(703-705)Gag>Cag	p.E235Q	FAM184A_ENST00000521531.1_Missense_Mutation_p.E235Q|FAM184A_ENST00000368475.4_Missense_Mutation_p.E115Q|FAM184A_ENST00000352896.5_Missense_Mutation_p.E115Q|FAM184A_ENST00000522284.1_Missense_Mutation_p.E115Q|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	235										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTTAGCTCCTCAAGCATTTTG	0.413													11	43					0	0	0	0	G	119345435	C	G	119345435	3	3	357	1	0	0	0	0	1	0	0	0	5553	835	29	2	2787	2	FAM184A	6	119345435	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2902328	119345435	51769632	284	67576											
RNF146	81847	broad.mit.edu	37	chr6	127607815	127607815	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacatgcttcctacaaacagGaaagcgaacgagtcctgttc	14	8	8	11	2	0	0	0	0	0	0	3	3	2	1	2	1	6	2	2	1	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:127607815G>A	ENST00000368314.1	+	3	481	c.57G>A	c.(55-57)agG>agA	p.R19R	RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000356799.2_Silent_p.R18R|RNF146_ENST00000309649.3_Silent_p.R18R	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	19					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CTACAAACAGGAAAGCGAACG	0.388													16	76					0	0	0	0	A	127607815	G	A	127607815	2	1	357	1	0	0	0	0	0	0	0	1	13533	1165	41	2		2	RNF146	6	127607815	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	8262380	127607815	43507252	285	67577											
THEMIS	387357	broad.mit.edu	37	chr6	128150845	128150845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacaaaggcaaattaaatGagtgagtttgatgattcctt	14	13	10	4	0	0	5	0	5	0	0	1	5	1	5	1	1	0	2	1	1	4	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:128150845G>A	ENST00000368250.1	-	4	746	c.248C>T	c.(247-249)tCa>tTa	p.S83L	THEMIS_ENST00000368248.2_Missense_Mutation_p.S162L|THEMIS_ENST00000543064.1_Missense_Mutation_p.S162L|THEMIS_ENST00000537166.1_Missense_Mutation_p.S127L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	162	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAAATTAAATGAGTGAGTTTG	0.383													14	81					0	0	0	0	A	128150845	G	A	128150845	3	1	357	1	0	0	0	0	1	0	0	0	15954	1294	45	2	1577	2	THEMIS	6	128150845	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	543030	128150845	42964222	286	67578											
IL20RA	53832	broad.mit.edu	37	chr6	137323468	137323468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcacaaagaatcttttgtCaaattcatttccataaatca	16	13	4	8	0	4	1	3	0	1	1	5	1	5	1	1	1	0	1	1	1	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:137323468C>G	ENST00000367748.1	-	6	1142	c.556G>C	c.(556-558)Gac>Cac	p.D186H	IL20RA_ENST00000541547.1_Missense_Mutation_p.D248H|IL20RA_ENST00000316649.5_Missense_Mutation_p.D297H			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	297	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AATCTTTTGTCAAATTCATTT	0.303													9	38					0	0	0	0	G	137323468	C	G	137323468	3	3	357	1	0	0	0	0	1	0	0	0	7721	826	29	2	776	2	IL20RA	6	137323468	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	9172623	137323468	33791599	287	67579											
LTV1	84946	broad.mit.edu	37	chr6	144181686	144181686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actactataaagagaaggcaGagaagtatagtgacttttcc	16	10	9	6	0	0	3	0	1	0	2	1	5	1	3	1	1	1	2	1	1	8	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:144181686G>A	ENST00000367576.5	+	7	1053	c.919G>A	c.(919-921)Gag>Aag	p.E307K		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	307										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		AGAGAAGGCAGAGAAGTATAG	0.333													11	73					0	0	0	0	A	144181686	G	A	144181686	3	1	357	1	0	0	0	0	1	0	0	0	9145	943	33	2	945	2	LTV1	6	144181686	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6858218	144181686	26933381	288	67580											
LATS1	9113	broad.mit.edu	37	chr6	150004897	150004897	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgcccactgctcggggatGactgggctggagcagaagat	9	7	15	10	1	0	3	0	1	0	2	1	5	0	5	1	4	3	3	1	4	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:150004897G>C	ENST00000543571.1	-	4	1875	c.1328C>G	c.(1327-1329)tCa>tGa	p.S443*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.S443*|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Nonsense_Mutation_p.S443*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	443					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTCGGGGATGACTGGGCTGG	0.428													59	180					0	0	0	0	C	150004897	G	C	150004897	4	2	357	1	0	0	0	0	0	1	0	0	8699	1294	45	2	2084	2	LATS1	6	150004897	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	5823211	150004897	21110170	289	67581											
LATS1	9113	broad.mit.edu	37	chr6	150005093	150005093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtccattagctgctgtcaGaggatatggaggtggtggct	7	13	15	6	0	1	1	1	0	0	1	2	3	2	3	1	5	2	3	1	5	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:150005093G>A	ENST00000543571.1	-	4	1679	c.1132C>T	c.(1132-1134)Ctg>Ttg	p.L378L	LATS1_ENST00000253339.5_Silent_p.L378L|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Silent_p.L378L	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	378					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTGCTGTCAGAGGATATGGA	0.468													16	54					0	0	0	0	A	150005093	G	A	150005093	2	1	357	1	0	0	0	0	0	0	0	1	8699	933	33	2		2	LATS1	6	150005093	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	196	150005093	21109974	290	67582											
PCMT1	5110	broad.mit.edu	37	chr6	150114710	150114710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtactggaaaagtcatagGaattgatcacattaaagagc	17	10	9	5	0	2	2	2	1	0	1	2	4	2	4	0	2	2	1	0	2	7	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:150114710G>A	ENST00000464889.1	+	5	781	c.497G>A	c.(496-498)gGa>gAa	p.G166E	PCMT1_ENST00000544496.1_Missense_Mutation_p.G73E|PCMT1_ENST00000367378.1_Missense_Mutation_p.G166E|PCMT1_ENST00000367384.2_Missense_Mutation_p.G166E|PCMT1_ENST00000367380.5_Missense_Mutation_p.G108E					protein-L-isoaspartate (D-aspartate) O-methyltransferase											kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		AAAGTCATAGGAATTGATCAC	0.363													6	29					0	0	0	0	A	150114710	G	A	150114710	3	1	357	1	0	0	0	0	1	0	0	0	11656	1174	41	2	515	2	PCMT1	6	150114710	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	109617	150114710	21000357	291	67583											
SYNE1	23345	broad.mit.edu	37	chr6	152485448	152485448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggctaccagggtctccttCagcttcttcaccctgtgggc	5	11	10	15	1	4	0	2	0	2	0	5	0	4	0	3	3	2	2	3	3	1	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:152485448C>T	ENST00000367255.5	-	131	24241	c.23640G>A	c.(23638-23640)ctG>ctA	p.L7880L	SYNE1_ENST00000341594.5_Silent_p.L7492L|SYNE1_ENST00000423061.1_Silent_p.L7809L|SYNE1_ENST00000539504.1_Silent_p.L35L|SYNE1_ENST00000354674.4_Silent_p.L35L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Silent_p.L7880L|SYNE1_ENST00000448038.1_Silent_p.L7809L|SYNE1_ENST00000356820.4_Silent_p.L2404L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7880					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGTCTCCTTCAGCTTCTTCA	0.557										HNSCC(10;0.0054)			12	56					0	0	0	0	T	152485448	C	T	152485448	2	4	357	1	0	0	0	0	0	0	0	1	15536	813	29	2		2	SYNE1	6	152485448	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2370738	152485448	18629619	292	67584											
SYNE1	23345	broad.mit.edu	37	chr6	152647475	152647475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagagtcccggctcatcctCtggctcctgagttccagaga	7	9	10	15	1	2	3	1	1	1	2	6	4	6	3	5	2	0	3	5	2	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:152647475C>T	ENST00000367255.5	-	79	15850	c.15249G>A	c.(15247-15249)caG>caA	p.Q5083Q	SYNE1_ENST00000341594.5_Silent_p.Q4830Q|SYNE1_ENST00000423061.1_Silent_p.Q5012Q|SYNE1_ENST00000265368.4_Silent_p.Q5083Q|SYNE1_ENST00000448038.1_Silent_p.Q5012Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5083					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCTCATCCTCTGGCTCCTGA	0.493										HNSCC(10;0.0054)			12	60					0	0	0	0	T	152647475	C	T	152647475	2	4	357	1	0	0	0	0	0	0	0	1	15536	912	32	2		2	SYNE1	6	152647475	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	162027	152647475	18467592	293	67585											
SYNE1	23345	broad.mit.edu	37	chr6	152688445	152688445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcgcatccgtcatccagtCttgtaattctttaatcccaa	11	14	4	12	2	3	0	1	0	2	0	7	0	6	0	3	0	0	2	3	0	4	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:152688445C>G	ENST00000367255.5	-	62	10481	c.9880G>C	c.(9880-9882)Gac>Cac	p.D3294H	SYNE1_ENST00000341594.5_Missense_Mutation_p.D3333H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D3301H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D3294H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D3301H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3294					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCATCCAGTCTTGTAATTCT	0.468										HNSCC(10;0.0054)			18	82					0	0	0	0	G	152688445	C	G	152688445	3	3	357	1	0	0	0	0	1	0	0	0	15536	913	32	2	16926	2	SYNE1	6	152688445	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	40970	152688445	18426622	294	67586											
IGF2R	3482	broad.mit.edu	37	chr6	160481615	160481615	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcgtccgctttgtttgcaAtgatgatgtttactcagggc	7	16	10	8	2	1	2	1	2	0	0	3	2	2	2	1	1	2	4	1	1	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:160481615A>G	ENST00000356956.1	+	23	3276	c.3128A>G	c.(3127-3129)aAt>aGt	p.N1043S		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1043					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTTGTTTGCAATGATGATGTT	0.473													18	86					0	0	0	0	G	160481615	A	G	160481615	3	3	357	1	0	0	0	0	1	0	0	0	7629	101	4	5	3218	5	IGF2R	6	160481615	Missense_Mutation	SNP	A	TCGA-CV-A6K2-01A-11D-A31L-08	7793170	160481615	10633452	295	67587											
LPA	4018	broad.mit.edu	37	chr6	160966550	160966550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaccattgatgtcaccatCagggttacggcagtactgaa	11	9	12	9	1	2	2	2	2	0	0	2	3	2	3	2	3	2	3	2	3	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:160966550C>T	ENST00000447678.1	-	34	5440	c.5320G>A	c.(5320-5322)Gat>Aat	p.D1774N	LPA_ENST00000316300.5_Missense_Mutation_p.D1774N	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4282	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATGTCACCATCAGGGTTACGG	0.453													8	63					0	0	0	0	T	160966550	C	T	160966550	3	4	357	1	0	0	0	0	1	0	0	0	8967	826	29	2	830	2	LPA	6	160966550	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	484935	160966550	10148517	296	67588											
PARK2	5071	broad.mit.edu	37	chr6	161966456	161966456	+	Frame_Shift_Del	DEL	C	C	-																															ctgaggcagcttattttgttCttcgttgtccatactgtgag																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:161966456delC	ENST00000366892.1	-	10	1192	c.1097delG	c.(1096-1098)aafs	p.R366fs	PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Intron|PARK2_ENST00000366898.1_Intron			O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	0			R -> W (in dbSNP:rs56092260).		aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		ttattttgttcttcgttgtcc	0.373													10	28	---	---	---	---					-	161966456	C	-	161966456	7	5	357	1	0	1	0	1	0	0	0	0	11520	928	32	0		0	PARK2	6	161966456	Frame_Shift_Del	DEL	C	TCGA-CV-A6K2-01A-11D-A31L-08	999906	161966456	9148611	297	67589											
C6orf118	168090	broad.mit.edu	37	chr6	165715188	165715188	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acctgtctgcgctggtggctCcggccaggtaggagctgaca	6	8	15	12	2	1	1	0	1	1	0	2	2	2	2	3	5	2	4	3	5	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:165715188C>G	ENST00000543069.1	-	2	892	c.311G>C	c.(310-312)gGa>gCa	p.G104A	C6orf118_ENST00000230301.8_Missense_Mutation_p.G208A			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	208										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCTGGTGGCTCCGGCCAGGTA	0.602													15	73					0	0	0	0	G	165715188	C	G	165715188	3	3	357	1	0	0	0	0	1	0	0	0	2344	855	30	2	818	2	C6orf118	6	165715188	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3748732	165715188	5399879	298	67590											
MLLT4	4301	broad.mit.edu	37	chr6	168319465	168319465	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacactgccgatgagctGgcccgcagtgatggaaggga	12	5	15	9	2	0	2	0	2	0	0	0	6	0	4	2	3	3	2	2	3	3	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:168319465G>A	ENST00000366806.2	+	20	2881	c.2739G>A	c.(2737-2739)ctG>ctA	p.L913L	MLLT4_ENST00000400822.3_Silent_p.L912L|MLLT4_ENST00000392108.3_Silent_p.L913L|MLLT4_ENST00000392112.1_Silent_p.L897L|MLLT4_ENST00000351017.4_Silent_p.L920L|MLLT4_ENST00000447894.2_Silent_p.L913L|MLLT4_ENST00000344191.4_Silent_p.L913L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	913					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCGATGAGCTGGCCCGCAGTG	0.458			T	MLL	AL								14	51					0	0	0	0	A	168319465	G	A	168319465	2	1	357	1	0	0	0	0	0	0	0	1	9698	1335	47	4		4	MLLT4	6	168319465	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2604277	168319465	2795602	299	67591											
SDK1	221935	broad.mit.edu	37	chr7	3991489	3991489	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acaccgggccatacgtctgcGaggcggcgctgccggggagc	6	4	17	14	6	1	0	0	0	1	0	1	2	1	1	3	5	4	1	3	5	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:3991489G>C	ENST00000404826.2	+	7	1226	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	SDK1_ENST00000389531.3_Missense_Mutation_p.E363Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	363	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATACGTCTGCGAGGCGGCGCT	0.602													24	55					0	0	0	0	C	3991489	G	C	3991489	3	2	357	1	0	0	0	0	1	0	0	0	14055	1059	37	3	1113	3	SDK1	7	3991489	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08		3991489	155147174	300	67592											
FAM126A	84668	broad.mit.edu	37	chr7	22999885	22999885	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tatttcttaccatgtcttttCcacctatgaccccttattga	8	18	3	12	0	2	2	0	2	2	0	3	2	3	2	5	0	1	0	5	0	4	8			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:22999885C>G	ENST00000432176.2	-	10	1213	c.981G>C	c.(979-981)tgG>tgC	p.W327C	FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_Missense_Mutation_p.W327C	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	327						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CATGTCTTTTCCACCTATGAC	0.358													29	137					0	0	0	0	G	22999885	C	G	22999885	3	3	357	1	0	0	0	0	1	0	0	0	5470	856	30	2	592	2	FAM126A	7	22999885	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	19008396	22999885	136138778	301	67593											
MPP6	51678	broad.mit.edu	37	chr7	24705276	24705276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctggaagagaagagaaagGcatttgttagaagagactgg	15	8	14	4	0	0	4	0	0	0	4	1	8	1	5	1	3	0	2	1	3	5	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:24705276G>A	ENST00000396475.2	+	8	1152	c.853G>A	c.(853-855)Gca>Aca	p.A285T	MPP6_ENST00000409761.1_Missense_Mutation_p.A173T|MPP6_ENST00000222644.4_Missense_Mutation_p.A285T	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	285					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GAAGAGAAAGGCATTTGTTAG	0.418													4	45					0	0	0	0	A	24705276	G	A	24705276	3	1	357	1	0	0	0	0	1	0	0	0	9808	1203	42	4	875	4	MPP6	7	24705276	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1705391	24705276	134433387	302	67594											
MPP6	51678	broad.mit.edu	37	chr7	24705289	24705289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaaaggcatttgttagaaGagactgggacaattcaggtg	14	9	14	4	0	1	3	1	0	0	3	1	6	1	4	0	3	0	2	0	3	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:24705289G>C	ENST00000396475.2	+	8	1165	c.866G>C	c.(865-867)aGa>aCa	p.R289T	MPP6_ENST00000409761.1_Missense_Mutation_p.R177T|MPP6_ENST00000222644.4_Missense_Mutation_p.R289T	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	289					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTTGTTAGAAGAGACTGGGAC	0.418													21	26					0	0	0	0	C	24705289	G	C	24705289	3	2	357	1	0	0	0	0	1	0	0	0	9808	942	33	2	888	2	MPP6	7	24705289	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	13	24705289	134433374	303	67595											
CREB5	9586	broad.mit.edu	37	chr7	28857687	28857687	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaatacatatctcttttaGaatgaagtgtctatgttgaa	13	18	6	4	0	2	3	0	2	2	1	3	3	2	3	0	0	1	1	0	0	8	8			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:28857687G>C	ENST00000357727.2	+	10	1644		c.e10-1		CREB5_ENST00000396300.2_Splice_Site|CREB5_ENST00000396298.2_Splice_Site|CREB5_ENST00000409603.1_Splice_Site|CREB5_ENST00000396299.2_Splice_Site	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5						positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ATCTCTTTTAGAATGAAGTGT	0.393													21	42					0	0	0	0	C	28857687	G	C	28857687	5	2	357	1	0	0	0	0	0	0	1	0	3890	956	33	2	1343	2	CREB5	7	28857687	Splice_Site	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4152398	28857687	130280976	304	67596											
BMPER	168667	broad.mit.edu	37	chr7	34125424	34125424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtcatggctgcgccgcatCtcaagggcaagctctgtggt	8	9	13	11	2	3	0	2	0	2	0	4	0	3	0	1	3	2	4	1	3	3	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:34125424C>T	ENST00000297161.2	+	14	1839	c.1465C>T	c.(1465-1467)Ctc>Ttc	p.L489F	BMPER_ENST00000426693.1_Missense_Mutation_p.L489F	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	489	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGCGCCGCATCTCAAGGGCAA	0.438													12	47					0	0	0	0	T	34125424	C	T	34125424	3	4	357	1	0	0	0	0	1	0	0	0	1473	913	32	2	1515	2	BMPER	7	34125424	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	5267737	34125424	125013239	305	67597											
HECW1	23072	broad.mit.edu	37	chr7	43546766	43546766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agccagtgcaagagccccttCcccctaccgaagagactttg	10	7	9	15	1	0	2	0	0	0	2	1	4	1	2	6	0	4	1	6	0	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:43546766C>G	ENST00000395891.1	+	22	4267	c.3662C>G	c.(3661-3663)tCc>tGc	p.S1221C	HECW1_ENST00000453890.1_Missense_Mutation_p.S1187C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1221					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGAGCCCCTTCCCCCTACCGA	0.463													10	47					0	0	0	0	G	43546766	C	G	43546766	3	3	357	1	0	0	0	0	1	0	0	0	7092	855	30	2	3740	2	HECW1	7	43546766	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	9421342	43546766	115591897	306	67598											
MYL7	58498	broad.mit.edu	37	chr7	44178534	44178534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccctcattcctctttctCgtctccatgggtgatgatgt	4	16	8	13	1	4	2	1	2	3	0	7	2	5	2	4	1	1	0	4	1	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:44178534C>T	ENST00000458240.1	-	6	721	c.433G>A	c.(433-435)Gag>Aag	p.E145K	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000223364.3_Missense_Mutation_p.E172K			Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	172	EF-hand 3.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						TCCTCTTTCTCGTCTCCATGG	0.557													12	63					0	0	0	0	T	44178534	C	T	44178534	3	4	357	1	0	0	0	0	1	0	0	0	10123	893	31	1	17	1	MYL7	7	44178534	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	631768	44178534	114960129	307	67599											
PKD1L1	168507	broad.mit.edu	37	chr7	47976510	47976510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaacagcctgtgttttttCattaacaacacttaacgctg	13	13	5	10	1	1	0	1	0	0	0	1	0	1	0	1	0	6	2	1	0	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:47976510C>T	ENST00000289672.2	-	4	381	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	111					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGTGTTTTTTCATTAACAACA	0.358													24	92					0	0	0	0	T	47976510	C	T	47976510	3	4	357	1	0	0	0	0	1	0	0	0	12036	835	29	2	8434	2	PKD1L1	7	47976510	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3797976	47976510	111162153	308	67600											
SUN3	256979	broad.mit.edu	37	chr7	48034039	48034039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgattagggtatgaccctggGaacctggaaaagcccagcac	12	7	12	10	0	0	2	0	2	0	0	0	4	0	4	3	3	3	2	3	3	5	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:48034039G>A	ENST00000453192.2	-	9	941	c.698C>T	c.(697-699)tCc>tTc	p.S233F	SUN3_ENST00000297325.4_Missense_Mutation_p.S245F|SUN3_ENST00000412142.1_Missense_Mutation_p.S145F|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.S245F			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	245	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGACCCTGGGAACCTGGAAA	0.453													26	112					0	0	0	0	A	48034039	G	A	48034039	3	1	357	1	0	0	0	0	1	0	0	0	15483	1174	41	2	351	2	SUN3	7	48034039	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	57529	48034039	111104624	309	67601											
ZNF479	90827	broad.mit.edu	37	chr7	57188601	57188601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtatatcttgttttatctCtattggaatttgaaaattta	12	20	5	4	0	2	1	0	1	2	0	3	2	2	2	0	1	0	2	0	1	8	10			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:57188601C>G	ENST00000331162.4	-	5	791	c.521G>C	c.(520-522)aGa>aCa	p.R174T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGTTTTATCTCTATTGGAATT	0.284													5	30					0	0	0	0	G	57188601	C	G	57188601	3	3	357	1	0	0	0	0	1	0	0	0	18028	913	32	2	1057	2	ZNF479	7	57188601	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	9154562	57188601	101950062	310	67602											
WBSCR27	155368	broad.mit.edu	37	chr7	73254880	73254880	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaagcctggagcccgcagCtggggtaggggtgggagact	8	5	20	8	1	0	1	0	0	0	1	0	4	0	3	2	7	3	3	2	7	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:73254880C>A	ENST00000297873.4	-	4	302		c.e4-1			NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27											NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GAGCCCGCAGCTGGGGTAGGG	0.662													7	26					0.00448238	0.00453084	1	0	A	73254880	C	A	73254880	5	1	357	1	0	0	0	0	0	0	1	0	17362	811	28	4	497	4	WBSCR27	7	73254880	Splice_Site	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	16066279	73254880	85883783	311	67603											
EIF4H	7458	broad.mit.edu	37	chr7	73609192	73609192	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtggatccaacatggatttCagagaacccacagaaggtac	14	7	10	10	1	1	2	1	0	0	2	2	5	2	4	2	3	3	1	2	3	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:73609192C>T	ENST00000265753.8	+	6	730	c.591C>T	c.(589-591)ttC>ttT	p.F197F	EIF4H_ENST00000353999.6_Silent_p.F177F	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	197					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						ACATGGATTTCAGAGAACCCA	0.632													14	41					0	0	0	0	T	73609192	C	T	73609192	2	4	357	1	0	0	0	0	0	0	0	1	5077	825	29	2		2	EIF4H	7	73609192	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	354312	73609192	85529471	312	67604											
POMZP3	22932	broad.mit.edu	37	chr7	76254991	76254991	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagtgttgagctgattatCtgctctggtctataatgaaa	11	14	10	6	0	3	3	0	3	3	0	3	4	3	3	0	1	2	3	0	1	4	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:76254991C>T	ENST00000310842.4	-	3	759	c.75G>A	c.(73-75)caG>caA	p.Q25Q	UPK3B_ENST00000419923.2_Intron|AC004980.7_ENST00000418663.1_RNA|POMZP3_ENST00000275569.4_Silent_p.Q25Q|UPK3B_ENST00000443097.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	25										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGCTGATTATCTGCTCTGGTC	0.418													39	124					0	0	0	0	T	76254991	C	T	76254991	2	4	357	1	0	0	0	0	0	0	0	1	12319	912	32	2		2	POMZP3	7	76254991	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2645799	76254991	82883672	313	67605											
CCDC146	57639	broad.mit.edu	37	chr7	76871137	76871137	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacggaggtctccaaaatGagagaacaacttctcaagta	15	8	8	10	1	2	2	1	1	2	1	5	4	3	3	2	2	2	1	2	2	6	2	rs151147207	by1000genomes	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:76871137G>C	ENST00000285871.4	+	4	496	c.369G>C	c.(367-369)atG>atC	p.M123I	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	123										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCTCCAAAATGAGAGAACAAC	0.398													12	81					0	0	0	0	C	76871137	G	C	76871137	3	2	357	1	0	0	0	0	1	0	0	0	2805	1290	45	2	379	2	CCDC146	7	76871137	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	616146	76871137	82267526	314	67606											
PTPN12	5782	broad.mit.edu	37	chr7	77210788	77210788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattaaagactccttcacaaGattcagactatatcaatgca	16	11	4	10	0	3	3	3	0	0	3	4	3	4	3	1	0	1	1	1	0	6	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:77210788G>A	ENST00000248594.6	+	3	525	c.253G>A	c.(253-255)Gat>Aat	p.D85N	PTPN12_ENST00000415482.2_5'UTR|PTPN12_ENST00000435495.2_5'UTR	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	85	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCCTTCACAAGATTCAGACTA	0.294													9	27					0	0	0	0	A	77210788	G	A	77210788	3	1	357	1	0	0	0	0	1	0	0	0	12861	942	33	2	263	2	PTPN12	7	77210788	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	339651	77210788	81927875	315	67607											
PCLO	27445	broad.mit.edu	37	chr7	82545234	82545234	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatgcttgatattggactgCttgccatgctacttctttcc	7	17	7	10	0	1	1	0	1	1	0	2	2	2	2	2	1	5	3	2	1	3	8			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:82545234C>A	ENST00000423517.2	-	7	12405	c.12068G>T	c.(12067-12069)aGc>aTc	p.S4023I	PCLO_ENST00000333891.8_Missense_Mutation_p.S4023I|PCLO_ENST00000437081.1_Missense_Mutation_p.S743I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3954					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATTGGACTGCTTGCCATGCT	0.393													6	130					0.00116845	0.00118492	1	0	A	82545234	C	A	82545234	3	1	357	1	0	0	0	0	1	0	0	0	11654	797	28	4	3453	4	PCLO	7	82545234	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	5334446	82545234	76593429	316	67608											
GRM3	2913	broad.mit.edu	37	chr7	86415581	86415581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccctcccctaggtggCaaacctgctgcggctcttcc	4	11	8	18	1	2	0	0	0	2	0	5	0	4	0	5	3	3	3	5	3	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:86415581C>A	ENST00000361669.2	+	3	1572	c.473C>A	c.(472-474)gCa>gAa	p.A158E	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.A156E|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.A158E|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A30E	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	158					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCCTAGGTGGCAAACCTGCTG	0.507													34	163					6.90743e-12	7.24853e-12	1	0	A	86415581	C	A	86415581	3	1	357	1	0	0	0	0	1	0	0	0	6848	710	25	4	479	4	GRM3	7	86415581	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3870347	86415581	72723082	317	67609											
SAMD9	54809	broad.mit.edu	37	chr7	92732104	92732104	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttgttttgcccagtttaGagcattgccaaagtccttct	7	16	8	10	0	1	1	0	0	1	1	2	1	2	1	3	0	4	4	3	0	2	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:92732104G>A	ENST00000379958.2	-	3	3576	c.3307C>T	c.(3307-3309)Cta>Tta	p.L1103L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1103						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GCCCAGTTTAGAGCATTGCCA	0.368													13	59					0	0	0	0	A	92732104	G	A	92732104	2	1	357	1	0	0	0	0	0	0	0	1	13911	933	33	2		2	SAMD9	7	92732104	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6316523	92732104	66406559	318	67610											
DLX6	1750	broad.mit.edu	37	chr7	96639321	96639321	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attctcactggtactcctctCcacaccaggacacgatgcag	10	9	7	15	1	2	0	1	0	2	0	5	2	3	1	3	2	2	2	3	2	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:96639321C>G	ENST00000518156.2	+	3	1274	c.844C>G	c.(844-846)Cca>Gca	p.P282A	DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000555308.1_Missense_Mutation_p.P154A|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Missense_Mutation_p.P254A|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000437541.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	164					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GTACTCCTCTCCACACCAGGA	0.572													3	16					0	0	0	0	G	96639321	C	G	96639321	3	3	357	1	0	0	0	0	1	0	0	0	4612	855	30	2	854	2	DLX6	7	96639321	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3907217	96639321	62499342	319	67611											
ZNF394	84124	broad.mit.edu	37	chr7	99091605	99091605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagacaggtgtacggcttCtcgcctgtgtgtgtcctctg	4	14	12	11	2	3	1	1	0	2	1	5	1	4	1	2	2	1	2	2	2	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:99091605C>T	ENST00000337673.6	-	3	1436	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	411					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGTACGGCTTCTCGCCTGTGT	0.498													10	51					0	0	0	0	T	99091605	C	T	99091605	2	4	357	1	0	0	0	0	0	0	0	1	17975	912	32	2		2	ZNF394	7	99091605	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2452284	99091605	60047058	320	67612											
CYP3A43	64816	broad.mit.edu	37	chr7	99447259	99447259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatccacaagatccctttctGaaaaatatgaagaagctttt	16	12	5	8	0	1	4	0	2	1	2	3	4	3	4	2	0	1	1	2	0	7	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:99447259G>A	ENST00000342499.4	+	5	549	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	CYP3A43_ENST00000312017.5_Silent_p.L204L|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000222382.5_Silent_p.L204L|CYP3A43_ENST00000354829.2_Silent_p.L204L|CYP3A43_ENST00000477658.1_Intron			Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	0			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	ATCCCTTTCTGAAAAATATGA	0.363													14	58					0	0	0	0	A	99447259	G	A	99447259	3	1	357	1	0	0	0	0	1	0	0	0	4211	1277	45	2	638	2	CYP3A43	7	99447259	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	355654	99447259	59691404	321	67613											
GJC3	349149	broad.mit.edu	37	chr7	99521203	99521203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccaactggtctttgtttttCctgggctaagcttcttcctg	4	18	8	11	0	2	0	0	0	2	0	5	0	5	0	3	2	2	3	3	2	2	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:99521203C>T	ENST00000312891.2	-	2	804	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	269						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ctttgtttttcctgggctaag	0.418													7	38					0	0	0	0	T	99521203	C	T	99521203	3	4	357	1	0	0	0	0	1	0	0	0	6467	864	30	2	38	2	GJC3	7	99521203	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	73944	99521203	59617460	322	67614											
MEPCE	56257	broad.mit.edu	37	chr7	100028728	100028728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcttcctcctcccgacatCgcaaacgtcgcaggacttcc	8	9	6	18	4	1	0	0	0	1	0	7	2	5	1	4	1	1	2	4	1	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:100028728C>T	ENST00000310512.2	+	1	1475	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	363							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCCCGACATCGCAAACGTCG	0.637													19	208					0	0	0	0	T	100028728	C	T	100028728	3	4	357	1	0	0	0	0	1	0	0	0	9546	884	31	1	1089	1	MEPCE	7	100028728	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	507525	100028728	59109935	323	67615											
GIGYF1	64599	broad.mit.edu	37	chr7	100284283	100284283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caatctcaccagggctggcgGagcgccagcggtcgccgtct	6	6	14	15	5	2	0	1	0	2	0	4	1	2	1	3	4	2	1	3	4	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:100284283G>C	ENST00000275732.5	-	7	1892	c.683C>G	c.(682-684)tCc>tGc	p.S228C	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	228										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGGGCTGGCGGAGCGCCAGCG	0.692													29	117					0	0	0	0	C	100284283	G	C	100284283	3	2	357	1	0	0	0	0	1	0	0	0	6428	1174	41	2	2496	2	GIGYF1	7	100284283	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	255555	100284283	58854380	324	67616											
MUC17	140453	broad.mit.edu	37	chr7	100684409	100684409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacgccggtggccagttctGaggctagcatcctttcaaca	9	9	10	13	2	2	1	1	1	1	0	3	1	3	1	3	3	2	3	3	3	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:100684409G>A	ENST00000306151.4	+	3	9776	c.9712G>A	c.(9712-9714)Gag>Aag	p.E3238K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3238	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAT	0.493													90	397					0	0	0	0	A	100684409	G	A	100684409	3	1	357	1	0	0	0	0	1	0	0	0	10044	1291	45	2	9722	2	MUC17	7	100684409	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	400126	100684409	58454254	325	67617											
ARMC10	83787	broad.mit.edu	37	chr7	102727178	102727178	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaaatgcactaaataacctGagtgtgaatgttgaaaatca	17	12	7	5	0	1	3	1	3	0	0	1	3	1	3	1	0	2	2	1	0	8	4	rs150220068	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:102727178G>C	ENST00000323716.3	+	4	887	c.495G>C	c.(493-495)ctG>ctC	p.L165L	ARMC10_ENST00000425331.1_Silent_p.L130L|ARMC10_ENST00000541300.1_Silent_p.L130L|ARMC10_ENST00000454559.1_Silent_p.L130L|ARMC10_ENST00000441711.2_Silent_p.L130L|ARMC10_ENST00000428183.2_Silent_p.L165L	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	165					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding	p.L165L(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						TAAATAACCTGAGTGTGAATG	0.289													3	98					0	0	0	0	C	102727178	G	C	102727178	2	2	357	1	0	0	0	0	0	0	0	1	954	1277	45	2		2	ARMC10	7	102727178	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2042769	102727178	56411485	326	67618											
RELN	5649	broad.mit.edu	37	chr7	103243902	103243902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacggaagggcagcttctGggtggcattcagtgccttgg	6	10	17	8	1	2	0	1	0	1	0	2	2	2	2	1	6	2	3	1	6	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:103243902G>T	ENST00000428762.1	-	24	3341	c.3182C>A	c.(3181-3183)cCa>cAa	p.P1061Q	RELN_ENST00000343529.5_Missense_Mutation_p.P1061Q|RELN_ENST00000424685.2_Missense_Mutation_p.P1061Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1061					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGCAGCTTCTGGGTGGCATTC	0.522													20	58					4.35082e-09	4.52504e-09	1	0	T	103243902	G	T	103243902	3	4	357	1	0	0	0	0	1	0	0	0	13302	1348	47	4	7368	4	RELN	7	103243902	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	516724	103243902	55894761	327	67619											
SLC26A4	5172	broad.mit.edu	37	chr7	107314639	107314639	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtggtgagtttaatggtggGatctgttgttctgagcatgg	7	15	16	3	0	2	2	0	2	2	0	2	3	2	3	0	4	1	4	0	4	1	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:107314639G>C	ENST00000265715.3	+	5	670	c.446G>C	c.(445-447)gGa>gCa	p.G149A		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	149					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTAATGGTGGGATCTGTTGTT	0.408									Pendred syndrome				21	79					0	0	0	0	C	107314639	G	C	107314639	3	2	357	1	0	0	0	0	1	0	0	0	14607	1174	41	2	460	2	SLC26A4	7	107314639	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4070737	107314639	51824024	328	67620											
IRF5	3663	broad.mit.edu	37	chr7	128588064	128588064	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttatgccatccgcctgtgtCagtgcaaggtgttctggagc	6	13	12	10	1	2	0	1	0	1	0	3	1	3	1	3	2	3	2	3	2	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:128588064C>T	ENST00000402030.2	+	7	1093	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	IRF5_ENST00000473745.1_Nonsense_Mutation_p.Q341*|IRF5_ENST00000357234.5_Nonsense_Mutation_p.Q357*|IRF5_ENST00000249375.4_Nonsense_Mutation_p.Q341*|IRF5_ENST00000477535.1_Nonsense_Mutation_p.Q255*	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	341					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CCGCCTGTGTCAGTGCAAGGT	0.602													25	145					0	0	0	0	T	128588064	C	T	128588064	4	4	357	1	0	0	0	0	0	1	0	0	7886	827	29	2	1091	2	IRF5	7	128588064	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	21273425	128588064	30550599	329	67621											
AKR1B15	441282	broad.mit.edu	37	chr7	134262506	134262506	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggcaaccatactcagcttCaacagaaactggagggcctt	13	8	9	11	0	2	1	2	0	0	1	2	2	2	2	2	3	5	2	2	3	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:134262506C>G	ENST00000457545.2	+	11	1220	c.960C>G	c.(958-960)ttC>ttG	p.F320L	AKR1B15_ENST00000423958.1_Missense_Mutation_p.F292L	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	320							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TACTCAGCTTCAACAGAAACT	0.413													3	35					0	0	0	0	G	134262506	C	G	134262506	3	3	357	1	0	0	0	0	1	0	0	0	468	825	29	2	994	2	AKR1B15	7	134262506	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	5674442	134262506	24876157	330	67622											
CNOT4	4850	broad.mit.edu	37	chr7	135048700	135048700	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggtgcactgtggttggcGttggagggggaagaagaatt	8	11	19	3	1	0	2	0	0	0	2	0	4	0	4	0	6	1	4	0	6	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:135048700G>A	ENST00000541284.1	-	11	2076	c.1746C>T	c.(1744-1746)aaC>aaT	p.N582N	CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000451834.1_Silent_p.N579N|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000473470.1_5'UTR	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	262					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGTGGTTGGCGTTGGAGGGGG	0.532													4	157					0	0	0	0	A	135048700	G	A	135048700	2	1	357	1	0	0	0	0	0	0	0	1	3651	1160	40	1		1	CNOT4	7	135048700	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	786194	135048700	24089963	331	67623											
TTC26	79989	broad.mit.edu	37	chr7	138874099	138874099	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagtgctccatttactgaGaagcacaggtaacacccaag	15	7	9	10	0	0	2	0	1	0	2	1	3	1	2	2	1	4	3	2	1	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:138874099G>C	ENST00000464848.1	+	18	1666	c.1586G>C	c.(1585-1587)aGa>aCa	p.R529T	TTC26_ENST00000430935.1_Missense_Mutation_p.E484D|TTC26_ENST00000495038.1_Missense_Mutation_p.R398T|TTC26_ENST00000343187.4_Missense_Mutation_p.R498T|TTC26_ENST00000478836.2_Missense_Mutation_p.R422T			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	529							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						CATTTACTGAGAAGCACAGGT	0.383													20	148					0	0	0	0	C	138874099	G	C	138874099	3	2	357	1	0	0	0	0	1	0	0	0	16790	942	33	2	1656	2	TTC26	7	138874099	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3825399	138874099	20264564	332	67624											
ZNF398	57541	broad.mit.edu	37	chr7	148876662	148876662	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacaccggggagcggccCtacccctgctcctactgtgg	6	7	11	17	2	0	0	0	0	0	0	2	1	2	1	6	4	4	1	6	4	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:148876662C>A	ENST00000420008.2	+	6	1973	c.1185C>A	c.(1183-1185)ccC>ccA	p.P395P	ZNF398_ENST00000426851.2_Silent_p.P395P|ZNF398_ENST00000483892.1_Silent_p.P395P|ZNF398_ENST00000475153.1_Silent_p.P566P|ZNF398_ENST00000335901.4_Silent_p.P395P|ZNF398_ENST00000540950.1_Silent_p.P571P|ZNF398_ENST00000491174.1_Silent_p.P395P	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	566					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GGGAGCGGCCCTACCCCTGCT	0.597													7	104					2.62144e-13	2.7633e-13	1	0	A	148876662	C	A	148876662	2	1	357	1	0	0	0	0	0	0	0	1	17980	668	24	4		4	ZNF398	7	148876662	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	10002563	148876662	10262001	333	67625											
CDK5	1020	broad.mit.edu	37	chr7	150752435	150752435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccccaaagaggacatccGgtgggcggtaccacagtgtg	9	6	15	11	2	0	1	0	0	0	1	1	2	1	2	4	5	1	1	4	5	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:150752435G>A	ENST00000485972.1	-	8	1190	c.509C>T	c.(508-510)cCg>cTg	p.P170L	CDK5_ENST00000297518.4_Missense_Mutation_p.P138L	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	170	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		GAGGACATCCGGTGGGCGGTA	0.612													15	35					0	0	0	0	A	150752435	G	A	150752435	3	1	357	1	0	0	0	0	1	0	0	0	3171	1116	39	1	389	1	CDK5	7	150752435	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1875773	150752435	8386228	334	67626											
GALNT11	63917	broad.mit.edu	37	chr7	151805335	151805335	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggatcttgtccccctttctGagctaggacgagcggaggga	7	9	15	10	2	2	1	0	1	2	0	3	6	3	5	2	4	2	1	2	4	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:151805335G>C	ENST00000434507.1	+	8	1362	c.925G>C	c.(925-927)Gag>Cag	p.E309Q	GALNT11_ENST00000430044.2_Missense_Mutation_p.E309Q|GALNT11_ENST00000320311.2_Missense_Mutation_p.E309Q|GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000452146.2_Missense_Mutation_p.E228Q			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	309						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CCCCCTTTCTGAGCTAGGACG	0.522													21	97					0	0	0	0	C	151805335	G	C	151805335	3	2	357	1	0	0	0	0	1	0	0	0	6258	1291	45	2	943	2	GALNT11	7	151805335	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1052900	151805335	7333328	335	67627											
CSMD1	64478	broad.mit.edu	37	chr8	3266975	3266975	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcttgttgccagaccactGattgttctgctgacaggtga	7	12	13	9	0	1	4	0	3	1	1	1	4	1	4	2	2	2	4	2	2	0	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:3266975G>A	ENST00000602557.1	-	14	2272	c.1717C>T	c.(1717-1719)Cag>Tag	p.Q573*	CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Q572*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Q573*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Q572*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.Q573*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Q573*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q572*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	573	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCAGACCACTGATTGTTCTGC	0.532													6	17					0	0	0	0	A	3266975	G	A	3266975	4	1	357	1	0	0	0	0	0	1	0	0	3976	1299	45	2		2	CSMD1	8	3266975	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08		3266975	143097047	336	67628											
CLDN23	137075	broad.mit.edu	37	chr8	8559962	8559962	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtgttggcgccctgcgggctCctgctcaacctgaccggcac	4	8	13	16	3	1	1	1	1	0	0	2	1	2	1	4	3	3	4	4	3	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:8559962C>G	ENST00000519106.1	+	1	515	c.54C>G	c.(52-54)ctC>ctG	p.L18L		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	18					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CCTGCGGGCTCCTGCTCAACC	0.711													8	30					0	0	0	0	G	8559962	C	G	8559962	2	3	357	1	0	0	0	0	0	0	0	1	3514	842	30	2		2	CLDN23	8	8559962	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	5292987	8559962	137804060	337	67629											
TNKS	8658	broad.mit.edu	37	chr8	9413844	9413844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taacaattcaccgtcgtcctCttcttccccgacttcttcct	6	15	3	17	3	4	0	1	0	3	0	8	1	7	0	5	0	1	0	5	0	2	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:9413844C>T	ENST00000310430.6	+	1	421	c.395C>T	c.(394-396)tCt>tTt	p.S132F	RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000520408.1_Missense_Mutation_p.S132F|TNKS_ENST00000522110.1_Missense_Mutation_p.S132F	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	132	Poly-Ser.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CCGTCGTCCTCTTCTTCCCCG	0.637													52	233					0	0	0	0	T	9413844	C	T	9413844	3	4	357	1	0	0	0	0	1	0	0	0	16413	913	32	2	397	2	TNKS	8	9413844	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	853882	9413844	136950178	338	67630											
GFRA2	2675	broad.mit.edu	37	chr8	21608407	21608407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgcaggccttggcagcatCcaggcaatggttgctcttgg	6	11	14	10	0	1	0	0	0	1	0	2	0	2	0	2	5	3	7	2	5	1	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:21608407C>T	ENST00000524240.1	-	4	1137	c.487G>A	c.(487-489)Gat>Aat	p.D163N	GFRA2_ENST00000518077.1_Missense_Mutation_p.D30N|GFRA2_ENST00000517328.1_Missense_Mutation_p.D163N|GFRA2_ENST00000400782.4_Missense_Mutation_p.D58N	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	163						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TTGGCAGCATCCAGGCAATGG	0.597													12	30					0	0	0	0	T	21608407	C	T	21608407	3	4	357	1	0	0	0	0	1	0	0	0	6399	855	30	2	931	2	GFRA2	8	21608407	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	12194563	21608407	124755615	339	67631											
CHMP7	91782	broad.mit.edu	37	chr8	23112769	23112769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcccacaggaaaaggctGaggaggtgtatcgtctgtat	10	11	12	8	1	1	1	0	1	1	0	3	3	2	3	1	4	0	3	1	4	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:23112769G>A	ENST00000397677.1	+	4	1129	c.481G>A	c.(481-483)Gag>Aag	p.E161K	CHMP7_ENST00000313219.7_Missense_Mutation_p.E161K	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	161					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGAAAAGGCTGAGGAGGTGTA	0.577													9	34					0	0	0	0	A	23112769	G	A	23112769	3	1	357	1	0	0	0	0	1	0	0	0	3390	1291	45	2	491	2	CHMP7	8	23112769	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1504362	23112769	123251253	340	67632											
ESCO2	157570	broad.mit.edu	37	chr8	27634270	27634270	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtttaactgctaagtatCaaccaaagtatagacacatc	17	10	6	8	0	1	2	1	0	0	2	2	2	1	2	1	0	3	4	1	0	7	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:27634270C>T	ENST00000305188.8	+	3	683	c.445C>T	c.(445-447)Caa>Taa	p.Q149*	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	149					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TGCTAAGTATCAACCAAAGTA	0.353									SC Phocomelia syndrome				14	39					0	0	0	0	T	27634270	C	T	27634270	4	4	357	1	0	0	0	0	0	1	0	0	5287	827	29	2	451	2	ESCO2	8	27634270	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	4521501	27634270	118729752	341	67633											
SCARA5	286133	broad.mit.edu	37	chr8	27779710	27779710	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctctcattcagccggttCacattgcgagtcagggcctt	8	11	10	12	2	4	0	4	0	1	0	5	1	4	0	2	2	3	2	2	2	1	4	rs146865223		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:27779710C>T	ENST00000354914.3	-	4	779	c.294G>A	c.(292-294)gtG>gtA	p.V98V	SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000518030.1_Silent_p.V55V|SCARA5_ENST00000524352.1_Silent_p.V98V|SCARA5_ENST00000301906.4_Silent_p.V55V	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	98					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TCAGCCGGTTCACATTGCGAG	0.662													3	29					0	0	0	0	T	27779710	C	T	27779710	2	4	357	1	0	0	0	0	0	0	0	1	13966	813	29	2		2	SCARA5	8	27779710	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	145440	27779710	118584312	342	67634											
WHSC1L1	54904	broad.mit.edu	37	chr8	38148153	38148153	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttaaggccctggatgttCagtggcacagacctggggtt	7	12	14	8	0	1	1	1	0	0	1	1	2	1	2	2	5	0	4	2	5	1	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:38148153C>A	ENST00000317025.8	-	17	3475	c.2958G>T	c.(2956-2958)ctG>ctT	p.L986L	WHSC1L1_ENST00000527502.1_Silent_p.L986L|WHSC1L1_ENST00000433384.2_Silent_p.L937L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	986	PWWP 2.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CCTGGATGTTCAGTGGCACAG	0.458			T	NUP98	AML								16	96					1.15088e-07	1.19166e-07	1	0	A	38148153	C	A	38148153	2	1	357	1	0	0	0	0	0	0	0	1	17459	813	29	2		2	WHSC1L1	8	38148153	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	10368443	38148153	108215869	343	67635											
PLAT	5327	broad.mit.edu	37	chr8	42046580	42046580	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatctgcgttttttcatctCtgcagatcactatgagaaaa	11	15	6	9	1	5	2	3	1	2	2	6	3	5	2	0	0	2	2	0	0	3	4	rs11537823		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:42046580C>G	ENST00000220809.4	-	4	381	c.125G>C	c.(124-126)aGa>aCa	p.R42T	PLAT_ENST00000519510.1_Missense_Mutation_p.R42T|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.R42T|PLAT_ENST00000270189.6_Missense_Mutation_p.R42T|PLAT_ENST00000429710.2_Missense_Mutation_p.R42T|PLAT_ENST00000524009.1_Missense_Mutation_p.R42T	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	42	Fibronectin type-I.|Important for binding to annexin A2.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTTTCATCTCTGCAGATCAC	0.483													32	132					0	0	0	0	G	42046580	C	G	42046580	3	3	357	1	0	0	0	0	1	0	0	0	12093	913	32	2	1607	2	PLAT	8	42046580	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3898427	42046580	104317442	344	67636											
PXDNL	137902	broad.mit.edu	37	chr8	52320655	52320655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtctaatctctgaatCtttaatttcattttgaagat	10	22	4	5	0	4	3	1	2	3	1	5	3	4	3	0	0	0	0	0	0	4	8			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:52320655C>A	ENST00000356297.4	-	17	3629	c.3529G>T	c.(3529-3531)Gat>Tat	p.D1177Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.D1177Y	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1177					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATCTCTGAATCTTTAATTTCA	0.353													10	42					0.000442599	0.000449327	1	0	A	52320655	C	A	52320655	3	1	357	1	0	0	0	0	1	0	0	0	12930	913	32	2	890	2	PXDNL	8	52320655	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	10274075	52320655	94043367	345	67637											
WWP1	11059	broad.mit.edu	37	chr8	87464814	87464814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacagaatggcgtttttctcGaggagtacaagaacagacca	14	8	11	8	2	1	3	0	0	1	3	2	6	1	4	1	2	2	2	1	2	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:87464814G>A	ENST00000517970.1	+	21	2607	c.2300G>A	c.(2299-2301)cGa>cAa	p.R767Q	WWP1_ENST00000265428.4_Missense_Mutation_p.R767Q|WWP1_ENST00000341922.2_Missense_Mutation_p.R637Q|WWP1_ENST00000349423.2_Missense_Mutation_p.R549Q	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	767	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CGTTTTTCTCGAGGAGTACAA	0.328													7	55					0	0	0	0	A	87464814	G	A	87464814	3	1	357	1	0	0	0	0	1	0	0	0	17511	1058	37	1	2374	1	WWP1	8	87464814	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	35144159	87464814	58899208	346	67638											
TMEM64	169200	broad.mit.edu	37	chr8	91643862	91643862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagggtggtacccaagtaaGaattcagaagctgggtagga	13	7	15	6	0	1	2	1	0	0	2	1	3	1	3	1	4	2	5	1	4	6	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:91643862G>C	ENST00000458549.2	-	2	1046	c.869C>G	c.(868-870)tCt>tGt	p.S290C	TMEM64_ENST00000418210.2_Intron|TMEM64_ENST00000519519.1_Missense_Mutation_p.S29C	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	290						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			ACCCAAGTAAGAATTCAGAAG	0.418													11	69					0	0	0	0	C	91643862	G	C	91643862	3	2	357	1	0	0	0	0	1	0	0	0	16287	942	33	2	281	2	TMEM64	8	91643862	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4179048	91643862	54720160	347	67639											
TMEM64	169200	broad.mit.edu	37	chr8	91643929	91643929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagttgggtaatgagagatCagtaatctagaagagtagat	16	11	12	2	0	2	5	1	1	1	4	2	6	2	5	0	1	0	4	0	1	6	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:91643929C>T	ENST00000458549.2	-	2	979	c.802G>A	c.(802-804)Gat>Aat	p.D268N	TMEM64_ENST00000418210.2_Intron|TMEM64_ENST00000519519.1_Missense_Mutation_p.D7N	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	268						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			AATGAGAGATCAGTAATCTAG	0.373													9	52					0	0	0	0	T	91643929	C	T	91643929	3	4	357	1	0	0	0	0	1	0	0	0	16287	826	29	2	348	2	TMEM64	8	91643929	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	67	91643929	54720093	348	67640											
RAD54B	25788	broad.mit.edu	37	chr8	95390474	95390474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaacacaatctgaactttCatgtaatgtgaacaaatttt	16	14	5	6	0	2	2	1	2	1	0	2	2	2	2	0	0	3	2	0	0	6	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:95390474C>T	ENST00000336148.5	-	14	2573	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TCTGAACTTTCATGTAATGTG	0.358								Direct reversal of damage;Homologous recombination					4	10					0	0	0	0	T	95390474	C	T	95390474	3	4	357	1	0	0	0	0	1	0	0	0	13074	835	29	2	291	2	RAD54B	8	95390474	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3746545	95390474	50973548	349	67641											
ESRP1	54845	broad.mit.edu	37	chr8	95658449	95658449	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgatcttcgaaaagaattCaagaaatgttgccctggttc	12	14	8	7	1	2	3	1	1	1	2	4	4	2	3	1	1	1	2	1	1	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:95658449C>T	ENST00000433389.2	+	4	619	c.429C>T	c.(427-429)ttC>ttT	p.F143F	ESRP1_ENST00000423620.2_Silent_p.F143F|ESRP1_ENST00000358397.5_Silent_p.F143F|ESRP1_ENST00000454170.2_Silent_p.F143F	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	143					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GAAAAGAATTCAAGAAATGTT	0.353													21	74					0	0	0	0	T	95658449	C	T	95658449	2	4	357	1	0	0	0	0	0	0	0	1	5296	825	29	2		2	ESRP1	8	95658449	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	267975	95658449	50705573	350	67642											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457229	110457229	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgaattatacggccattGaatgtgaaacatcccctgct	12	11	8	10	1	0	3	0	3	0	0	1	3	1	3	3	1	3	1	3	1	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:110457229G>C	ENST00000378402.5	+	38	5235	c.5131G>C	c.(5131-5133)Gaa>Caa	p.E1711Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1711	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACGGCCATTGAATGTGAAAC	0.448										HNSCC(38;0.096)			40	173					0	0	0	0	C	110457229	G	C	110457229	3	2	357	1	0	0	0	0	1	0	0	0	12044	1291	45	2	5281	2	PKHD1L1	8	110457229	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	14798780	110457229	35906793	351	67643											
NSMCE2	286053	broad.mit.edu	37	chr8	126370029	126370029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgccattgttcgcatgattGagtccaggcaaaagcggaag	12	8	12	9	3	0	2	0	2	0	0	2	3	1	3	2	2	1	3	2	2	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:126370029G>C	ENST00000287437.3	+	7	811	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	NSMCE2_ENST00000522563.1_Missense_Mutation_p.E199Q|NSMCE2_ENST00000517315.1_Missense_Mutation_p.E139Q	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	199					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TCGCATGATTGAGTCCAGGCA	0.498													11	49					0	0	0	0	C	126370029	G	C	126370029	3	2	357	1	0	0	0	0	1	0	0	0	10747	1291	45	2	613	2	NSMCE2	8	126370029	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	15912800	126370029	19993993	352	67644											
DENND3	22898	broad.mit.edu	37	chr8	142204271	142204271	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtgctcggctgaggacaGatacgtgctgagtgggtcgg	6	9	18	8	3	0	3	0	2	0	1	2	4	0	4	0	4	3	4	0	4	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:142204271G>C	ENST00000519811.1	+	23	3846	c.3776G>C	c.(3775-3777)aGa>aCa	p.R1259T	DENND3_ENST00000424248.1_Missense_Mutation_p.R1127T|DENND3_ENST00000262585.2_Missense_Mutation_p.R1179T|DENND3_ENST00000523308.1_Missense_Mutation_p.R229T			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1179										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGAGGACAGATACGTGCTG	0.577													14	54					0	0	0	0	C	142204271	G	C	142204271	3	2	357	1	0	0	0	0	1	0	0	0	4469	942	33	2	3622	2	DENND3	8	142204271	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	15834242	142204271	4159751	353	67645											
SCRIB	23513	broad.mit.edu	37	chr8	144895848	144895848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgcagagacacatcattCagggccaggtgagccaggct	10	6	13	12	0	2	2	2	1	0	1	2	3	2	2	3	3	2	2	3	3	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:144895848C>T	ENST00000356994.2	-	4	411	c.405G>A	c.(403-405)ctG>ctA	p.L135L	SCRIB_ENST00000377533.3_Silent_p.L54L|SCRIB_ENST00000320476.3_Silent_p.L135L	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	135	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACACATCATTCAGGGCCAGGT	0.652													13	64					0	0	0	0	T	144895848	C	T	144895848	2	4	357	1	0	0	0	0	0	0	0	1	14024	813	29	2		2	SCRIB	8	144895848	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2691577	144895848	1468174	354	67646											
PLEC	5339	broad.mit.edu	37	chr8	144992235	144992235	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagttcttggtgacctcctcGatggaggtcaggccctcccg	6	10	12	13	2	2	1	1	1	1	0	5	3	4	2	4	4	0	1	4	4	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:144992235G>A	ENST00000322810.4	-	32	12334	c.12165C>T	c.(12163-12165)atC>atT	p.I4055I	PLEC_ENST00000354589.3_Silent_p.I3918I|PLEC_ENST00000354958.2_Silent_p.I3896I|PLEC_ENST00000345136.3_Silent_p.I3918I|PLEC_ENST00000357649.2_Silent_p.I3922I|PLEC_ENST00000356346.3_Silent_p.I3904I|PLEC_ENST00000398774.2_Silent_p.I3886I|PLEC_ENST00000527096.1_Silent_p.I3941I|PLEC_ENST00000436759.2_Silent_p.I3945I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4055	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGACCTCCTCGATGGAGGTCA	0.637													4	14					0	0	0	0	A	144992235	G	A	144992235	2	1	357	1	0	0	0	0	0	0	0	1	12124	1048	37	1		1	PLEC	8	144992235	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	96387	144992235	1371787	355	67647											
DOCK8	81704	broad.mit.edu	37	chr9	396931	396931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccttttagtaaaaccacaGaaggtaactgtattttactc	13	13	6	9	0	0	1	0	0	0	1	1	1	0	1	2	1	3	3	2	1	7	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:396931G>A	ENST00000432829.2	+	25	3229	c.2913G>A	c.(2911-2913)caG>caA	p.Q971Q	DOCK8_ENST00000382331.1_Silent_p.Q341Q|DOCK8_ENST00000382329.1_Silent_p.Q506Q|DOCK8_ENST00000453981.1_Silent_p.Q1039Q|DOCK8_ENST00000469391.1_Silent_p.Q939Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1039					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TAAAACCACAGAAGGTAACtg	0.318													15	47					0	0	0	0	A	396931	G	A	396931	2	1	357	1	0	0	0	0	0	0	0	1	4729	933	33	2		2	DOCK8	9	396931	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08		396931	140816500	356	67648											
RCL1	10171	broad.mit.edu	37	chr9	4844556	4844556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggttgtcactggttgctGagaccaccagtggcaccttc	6	12	12	11	0	1	1	1	1	0	1	2	2	1	1	3	3	1	4	3	3	0	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:4844556G>A	ENST00000381750.4	+	7	965	c.742G>A	c.(742-744)Gag>Aag	p.E248K	RCL1_ENST00000448872.2_Missense_Mutation_p.E62K|RCL1_ENST00000381730.1_Missense_Mutation_p.E62K|RCL1_ENST00000381728.1_Missense_Mutation_p.E62K	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	248					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		ACTGGTTGCTGAGACCACCAG	0.567													36	124					0	0	0	0	A	4844556	G	A	4844556	3	1	357	1	0	0	0	0	1	0	0	0	13260	1291	45	2	768	2	RCL1	9	4844556	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4447625	4844556	136368875	357	67649											
SH3GL2	6456	broad.mit.edu	37	chr9	17793364	17793364	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacttttctttttactgcaGaataagacaggcttcatctc	10	15	5	11	0	3	2	1	0	2	2	4	2	3	2	1	1	2	2	1	1	3	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:17793364G>A	ENST00000380607.4	+	8	848		c.e8-1		SH3GL2_ENST00000537391.1_Splice_Site	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2						axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TTTTACTGCAGAATAAGACAG	0.418													9	27					0	0	0	0	A	17793364	G	A	17793364	5	1	357	1	0	0	0	0	0	0	1	0	14339	956	33	2	758	2	SH3GL2	9	17793364	Splice_Site	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	12948808	17793364	123420067	358	67650											
HAUS6	54801	broad.mit.edu	37	chr9	19060161	19060161	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagagtcaattagttcctCtaattttatttcttttcctt	9	20	4	8	0	3	1	1	0	2	1	5	2	5	1	2	0	0	1	2	0	4	9			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:19060161C>G	ENST00000380502.3	-	15	2157	c.1690G>C	c.(1690-1692)Gag>Cag	p.E564Q	HAUS6_ENST00000380496.1_Missense_Mutation_p.E428Q	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	564					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTAGTTCCTCTAATTTTATT	0.368													4	6					0	0	0	0	G	19060161	C	G	19060161	3	3	357	1	0	0	0	0	1	0	0	0	7020	922	32	2	1189	2	HAUS6	9	19060161	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1266797	19060161	122153270	359	67651											
TAF1L	138474	broad.mit.edu	37	chr9	32631851	32631851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcttgaatcctccgccGttctttccgcatctcttccc	3	16	5	17	3	3	1	0	1	3	0	8	1	7	1	5	0	1	3	5	0	1	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:32631851G>A	ENST00000242310.4	-	1	3816	c.3727C>T	c.(3727-3729)Cgg>Tgg	p.R1243W		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1243					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1243W(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCCTCCGCCGTTCTTTCCGC	0.453													15	75					0	0	0	0	A	32631851	G	A	32631851	3	1	357	1	0	0	0	0	1	0	0	0	15614	1144	40	1	1757	1	TAF1L	9	32631851	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	13571690	32631851	108581580	360	67652											
C9orf24	84688	broad.mit.edu	37	chr9	34385641	34385641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtgaggccttaccttcctCttgagaaagccagtacttct	8	12	10	11	0	2	2	0	2	2	1	3	3	3	2	4	2	3	1	4	2	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:34385641C>T	ENST00000297623.2	-	2	472	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	92										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TTACCTTCCTCTTGAGAAAGC	0.483													14	41					0	0	0	0	T	34385641	C	T	34385641	3	4	357	1	0	0	0	0	1	0	0	0	2500	922	32	2	644	2	C9orf24	9	34385641	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1753790	34385641	106827790	361	67653											
GALT	2592	broad.mit.edu	37	chr9	34646747	34646747	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaacgccagcaggcgtcaGaggcggacgccgcagcagca	11	1	15	14	5	1	1	1	0	0	1	1	2	1	2	2	3	5	5	2	3	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:34646747G>C	ENST00000378842.3	+	1	88	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	GALT_ENST00000556278.1_Missense_Mutation_p.E16Q|GALT_ENST00000450095.2_5'UTR	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	16					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCAGGCGTCAGAGGCGGACGC	0.667									Galactosemia		OREG0019158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	77					0	0	0	0	C	34646747	G	C	34646747	3	2	357	1	0	0	0	0	1	0	0	0	6279	943	33	2	48	2	GALT	9	34646747	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	261106	34646747	106566684	362	67654											
TLN1	7094	broad.mit.edu	37	chr9	35706339	35706339	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagccagggtgagcggctCaaagtactgcgccatctggg	8	7	15	11	2	2	1	1	1	1	0	2	1	2	1	2	3	5	3	2	3	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:35706339C>G	ENST00000314888.9	-	40	5568	c.5215G>C	c.(5215-5217)Gag>Cag	p.E1739Q	TLN1_ENST00000540444.1_Missense_Mutation_p.E1723Q|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1739	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTGAGCGGCTCAAAGTACTGC	0.607													25	105					0	0	0	0	G	35706339	C	G	35706339	3	3	357	1	0	0	0	0	1	0	0	0	16041	835	29	2	2482	2	TLN1	9	35706339	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1059592	35706339	105507092	363	67655											
SHB	6461	broad.mit.edu	37	chr9	37955888	37955888	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagaacttacatttgcttCtccagggggacggcaggatc	10	9	11	11	1	1	1	0	0	1	1	3	3	1	3	2	4	3	2	2	4	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:37955888C>T	ENST00000377707.3	-	4	1783	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	406	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		ACATTTGCTTCTCCAGGGGGA	0.512													3	29					0	0	0	0	T	37955888	C	T	37955888	2	4	357	1	0	0	0	0	0	0	0	1	14356	912	32	2		2	SHB	9	37955888	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2249549	37955888	103257543	364	67656											
PRKACG	5568	broad.mit.edu	37	chr9	71628433	71628433	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtccaagtgcggcccttCacgcgcttggcgaaaccgaa	10	6	12	13	5	1	0	1	0	0	0	2	2	2	0	3	3	2	1	3	3	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:71628433C>T	ENST00000377276.2	-	1	606	c.576G>A	c.(574-576)gtG>gtA	p.V192V		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	192	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGCGGCCCTTCACGCGCTTGG	0.627													4	45					0	0	0	0	T	71628433	C	T	71628433	2	4	357	1	0	0	0	0	0	0	0	1	12579	813	29	2		2	PRKACG	9	71628433	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	33672545	71628433	69584998	365	67657											
APBA1	320	broad.mit.edu	37	chr9	72071254	72071254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccacgttctcctgggagttgGagcgaggcatccgccggcgg	5	7	16	13	5	1	0	0	0	1	0	3	3	2	2	4	5	1	3	4	5	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:72071254G>A	ENST00000265381.4	-	8	1919	c.1697C>T	c.(1696-1698)tCc>tTc	p.S566F	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	566	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CTGGGAGTTGGAGCGAGGCAT	0.562													11	330					0	0	0	0	A	72071254	G	A	72071254	3	1	357	1	0	0	0	0	1	0	0	0	757	1174	41	2	840	2	APBA1	9	72071254	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	442821	72071254	69142177	366	67658											
TRPM3	80036	broad.mit.edu	37	chr9	73151096	73151096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagtagctgttggcgcgctCtatcttgggaacagtgatgt	7	12	14	8	3	2	1	0	1	2	0	2	3	2	2	0	2	2	4	0	2	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:73151096C>T	ENST00000377110.2	-	25	5140	c.4897G>A	c.(4897-4899)Gag>Aag	p.E1633K	TRPM3_ENST00000360823.2_Missense_Mutation_p.E1495K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1495K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1505K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1660K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1492K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1492K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1482K|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1637K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1492K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1505K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1658						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTGGCGCGCTCTATCTTGGGA	0.547													108	510					0	0	0	0	T	73151096	C	T	73151096	3	4	357	1	0	0	0	0	1	0	0	0	16682	922	32	2	230	2	TRPM3	9	73151096	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1079842	73151096	68062335	367	67659											
PRUNE2	158471	broad.mit.edu	37	chr9	79441526	79441526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgggtctcctgtaggaCgttgatgatgtcctctcttg	6	14	12	9	1	2	2	0	2	2	0	5	4	3	3	2	2	1	2	2	2	2	3	rs139637420		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:79441526C>A	ENST00000376718.3	-	5	754	c.631G>T	c.(631-633)Gtc>Ttc	p.V211F	PRUNE2_ENST00000376713.3_Missense_Mutation_p.V211F|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	211					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCTGTAGGACGTTGATGATG	0.493													33	152					3.03874e-20	3.23602e-20	1	0	A	79441526	C	A	79441526	3	1	357	1	0	0	0	0	1	0	0	0	12720	536	19	3	8695	3	PRUNE2	9	79441526	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	6290430	79441526	61771905	368	67660											
TLE1	7088	broad.mit.edu	37	chr9	84230975	84230975	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactgctagaagcatccttCtttagcaggcgatttttgtc	8	14	10	9	1	1	1	0	0	1	1	3	3	2	2	1	2	3	3	1	2	3	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:84230975C>T	ENST00000376499.3	-	11	1904	c.840G>A	c.(838-840)aaG>aaA	p.K280K	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	280	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						AAGCATCCTTCTTTAGCAGGC	0.483													23	119					0	0	0	0	T	84230975	C	T	84230975	2	4	357	1	0	0	0	0	0	0	0	1	16032	912	32	2		2	TLE1	9	84230975	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	4789449	84230975	56982456	369	67661											
GKAP1	80318	broad.mit.edu	37	chr9	86356884	86356884	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacctggtatttggctaactCtgcttgtaatactttcactt	8	18	6	9	0	2	0	1	0	1	0	2	0	2	0	1	2	4	4	1	2	5	9			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:86356884C>G	ENST00000376371.2	-	12	1436	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q	GKAP1_ENST00000376362.1_5'UTR|GKAP1_ENST00000376365.3_Missense_Mutation_p.E295Q	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	346					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTGGCTAACTCTGCTTGTAAT	0.294													3	13					0	0	0	0	G	86356884	C	G	86356884	3	3	357	1	0	0	0	0	1	0	0	0	6474	922	32	2	72	2	GKAP1	9	86356884	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2125909	86356884	54856547	370	67662											
RMI1	80010	broad.mit.edu	37	chr9	86616414	86616414	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaattttgatttatggAaatatatctttccgtcttgg	13	17	6	5	1	2	1	0	1	2	0	3	2	3	2	1	2	0	0	1	2	6	8			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:86616414A>G	ENST00000325875.3	+	3	845	c.513A>G	c.(511-513)ggA>ggG	p.G171G		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	171					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TGATTTATGGAAATATATCTT	0.358													12	44					0	0	0	0	G	86616414	A	G	86616414	2	3	357	1	0	0	0	0	0	0	0	1	13480	233	9	5		5	RMI1	9	86616414	Silent	SNP	A	TCGA-CV-A6K2-01A-11D-A31L-08	259530	86616414	54597017	371	67663											
IARS	3376	broad.mit.edu	37	chr9	95043133	95043133	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagatacagtttcatcttCttccaaagggaaagttacaa	16	12	6	7	0	3	1	1	0	2	1	4	2	4	2	1	1	2	2	1	1	7	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:95043133C>A	ENST00000375643.3	-	7	906	c.640G>T	c.(640-642)Gaa>Taa	p.E214*	IARS_ENST00000443024.2_Nonsense_Mutation_p.E214*|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Nonsense_Mutation_p.E104*	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	214					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GTTTCATCTTCTTCCAAAGGG	0.358													4	35					0.150653	0.151301	1	0	A	95043133	C	A	95043133	4	1	357	1	0	0	0	0	0	1	0	0	7526	922	32	2	3260	2	IARS	9	95043133	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	8426719	95043133	46170298	372	67664											
TRIM14	9830	broad.mit.edu	37	chr9	100850020	100850020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcggttgcagcccaggCgggcggcggccgaggccccg	4	3	19	15	6	0	0	0	0	0	0	0	1	0	0	4	7	2	2	4	7	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:100850020C>T	ENST00000341469.2	-	6	1070	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	TRIM14_ENST00000375098.3_Missense_Mutation_p.R354H|TRIM14_ENST00000538344.1_Missense_Mutation_p.R135H|TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000342043.3_Missense_Mutation_p.R354H	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	354	B30.2/SPRY.					cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCAGCCCAggcgggcggcggc	0.756													4	19					0	0	0	0	T	100850020	C	T	100850020	3	4	357	1	0	0	0	0	1	0	0	0	16584	768	27	1	271	1	TRIM14	9	100850020	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	5806887	100850020	40363411	373	67665											
CORO2A	7464	broad.mit.edu	37	chr9	100888996	100888996	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccagcttttctgtctgattCaagagccggggtgaggctgg	6	11	15	9	1	3	3	1	2	2	1	3	3	3	3	2	4	2	2	2	4	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:100888996C>G	ENST00000343933.5	-	11	1538	c.1281G>C	c.(1279-1281)ttG>ttC	p.L427F	CORO2A_ENST00000375077.4_Missense_Mutation_p.L427F	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	427					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTGTCTGATTCAAGAGCCGGG	0.582													36	133					0	0	0	0	G	100888996	C	G	100888996	3	3	357	1	0	0	0	0	1	0	0	0	3786	825	29	2	304	2	CORO2A	9	100888996	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	38976	100888996	40324435	374	67666											
EPB41L4B	54566	broad.mit.edu	37	chr9	111976099	111976099	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgttcctggactcagttCtacaaagcagccaggagaaa	13	8	11	9	0	2	1	1	0	1	1	3	3	3	2	2	3	3	3	2	3	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:111976099C>G	ENST00000374566.3	-	17	2151		c.e17-1			NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B							cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGACTCAGTTCTACAAAGCAG	0.517													23	61					0	0	0	0	G	111976099	C	G	111976099	5	3	357	1	0	0	0	0	0	0	1	0	5194	927	32	2	1109	2	EPB41L4B	9	111976099	Splice_Site	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	11087103	111976099	29237332	375	67667											
SVEP1	79987	broad.mit.edu	37	chr9	113194255	113194255	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaacatatgtaggatccatCtacgttcaggcaagaagcat	14	10	9	8	1	2	2	1	1	1	1	3	3	3	3	1	2	3	4	1	2	6	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:113194255C>G	ENST00000401783.2	-	32	5629	c.5293G>C	c.(5293-5295)Gat>Cat	p.D1765H	SVEP1_ENST00000374469.1_Missense_Mutation_p.D1742H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1765	EGF-like 7; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAGGATCCATCTACGTTCAGG	0.383													14	72					0	0	0	0	G	113194255	C	G	113194255	3	3	357	1	0	0	0	0	1	0	0	0	15510	913	32	2	5490	2	SVEP1	9	113194255	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1218156	113194255	28019176	376	67668											
SVEP1	79987	broad.mit.edu	37	chr9	113265335	113265335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacccacacaccggggttctGgcccatcccactggctgttt	6	10	9	16	1	1	0	0	0	1	0	2	0	2	0	4	4	1	3	4	4	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:113265335G>T	ENST00000401783.2	-	6	1802	c.1466C>A	c.(1465-1467)cCa>cAa	p.P489Q	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.P489Q|SVEP1_ENST00000374461.1_Missense_Mutation_p.P466Q|SVEP1_ENST00000374469.1_Missense_Mutation_p.P466Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	489	Sushi 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCGGGGTTCTGGCCCATCCCA	0.438													17	50					2.94398e-08	3.05508e-08	1	0	T	113265335	G	T	113265335	3	4	357	1	0	0	0	0	1	0	0	0	15510	1348	47	4	9421	4	SVEP1	9	113265335	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	71080	113265335	27948096	377	67669											
OR2K2	26248	broad.mit.edu	37	chr9	114090189	114090189	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaatttcacacgtgaaGtgatcgatgagattcccaca	13	9	9	10	2	1	4	1	3	0	2	3	6	2	4	2	0	0	0	2	0	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:114090189G>A	ENST00000374428.1	-	1	611	c.612C>T	c.(610-612)caC>caT	p.H204H	OR2K2_ENST00000302681.1_Silent_p.H175H			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CACACGTGAAGTGATCGATGA	0.527													10	47					0	0	0	0	A	114090189	G	A	114090189	2	1	357	1	0	0	0	0	0	0	0	1	11076	1020	36	4		4	OR2K2	9	114090189	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	824854	114090189	27123242	378	67670											
KIAA0368	23392	broad.mit.edu	37	chr9	114134106	114134106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ataatcgaatgccaccaaagGatcctaggaaagcaaaatta	19	7	7	8	1	0	0	0	0	0	0	2	3	1	2	3	2	2	1	3	2	8	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:114134106G>A	ENST00000259335.4	-	44	5065	c.5066C>T	c.(5065-5067)tCc>tTc	p.S1689F	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.S1511F	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GCCACCAAAGGATCCTAGGAA	0.378													10	57					0	0	0	0	A	114134106	G	A	114134106	3	1	357	1	0	0	0	0	1	0	0	0	8222	1174	41	2	1019	2	KIAA0368	9	114134106	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	43917	114134106	27079325	379	67671											
HSDL2	84263	broad.mit.edu	37	chr9	115171278	115171278	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggatctgatgatgaacgtGaacaccagaggcacctacct	12	9	10	10	1	1	5	0	4	1	1	1	6	1	6	3	2	3	1	3	2	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:115171278G>A	ENST00000398805.3	+	4	599	c.372G>A	c.(370-372)gtG>gtA	p.V124V	HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000398803.1_Intron|HSDL2_ENST00000262542.7_Silent_p.V4V	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	124						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TGATGAACGTGAACACCAGAG	0.418													28	59					0	0	0	0	A	115171278	G	A	115171278	2	1	357	1	0	0	0	0	0	0	0	1	7444	1277	45	2		2	HSDL2	9	115171278	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1037172	115171278	26042153	380	67672											
SLC46A2	57864	broad.mit.edu	37	chr9	115648826	115648826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatggtgagctggtagatCttgttgtacaaggtggatgt	8	14	14	5	0	1	2	0	1	1	1	2	3	2	3	1	4	2	4	1	4	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:115648826C>A	ENST00000374228.4	-	3	1515	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	428						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GCTGGTAGATCTTGTTGTACA	0.527													25	144					4.87955e-14	5.14942e-14	1	0	A	115648826	C	A	115648826	3	1	357	1	0	0	0	0	1	0	0	0	14733	912	32	2	151	2	SLC46A2	9	115648826	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	477548	115648826	25564605	381	67673											
RGS3	5998	broad.mit.edu	37	chr9	116353612	116353612	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtctgtcttctctccgcaGatgagcggggctgacaccgt	5	11	13	12	3	3	3	0	2	3	1	5	3	4	3	2	2	1	2	2	2	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:116353612G>A	ENST00000374140.2	+	22	3224		c.e22-1		RGS3_ENST00000350696.5_Splice_Site|RGS3_ENST00000374134.3_Splice_Site|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Splice_Site|RGS3_ENST00000343817.5_Splice_Site|RGS3_ENST00000462143.1_Splice_Site	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTCTCCGCAGATGAGCGGGG	0.572													7	54					0	0	0	0	A	116353612	G	A	116353612	5	1	357	1	0	0	0	0	0	0	1	0	13389	956	33	2	3350	2	RGS3	9	116353612	Splice_Site	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	704786	116353612	24859819	382	67674											
TNC	3371	broad.mit.edu	37	chr9	117848984	117848984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcatgtgggcaggtgggtttCccgcagtcttcacctgtgaa	6	11	14	10	1	2	1	1	1	1	0	3	1	3	1	2	3	0	4	2	3	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:117848984C>T	ENST00000350763.4	-	3	1437	c.1026G>A	c.(1024-1026)ggG>ggA	p.G342G	TNC_ENST00000346706.3_Silent_p.G342G|TNC_ENST00000423613.2_Silent_p.G342G|TNC_ENST00000341037.4_Silent_p.G342G|TNC_ENST00000340094.3_Silent_p.G342G|TNC_ENST00000535648.1_Silent_p.G342G|TNC_ENST00000542877.1_Silent_p.G342G|TNC_ENST00000537320.1_Silent_p.G342G|TNC_ENST00000345230.3_Silent_p.G342G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	342	EGF-like 6.|EGF-like 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGGTGGGTTTCCCGCAGTCTT	0.607													11	75					0	0	0	0	T	117848984	C	T	117848984	2	4	357	1	0	0	0	0	0	0	0	1	16364	842	30	2		2	TNC	9	117848984	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1495372	117848984	23364447	383	67675											
TLR4	7099	broad.mit.edu	37	chr9	120474818	120474818	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtggctgtggagacaaatCtagcatctctagagaacttc	11	11	11	8	0	2	2	0	0	2	2	4	4	2	2	0	3	2	2	0	3	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:120474818C>G	ENST00000355622.6	+	3	513	c.412C>G	c.(412-414)Cta>Gta	p.L138V	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.L98V	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	138					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.L138I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GGAGACAAATCTAGCATCTCT	0.408													16	60					0	0	0	0	G	120474818	C	G	120474818	3	3	357	1	0	0	0	0	1	0	0	0	16047	912	32	2	422	2	TLR4	9	120474818	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2625834	120474818	20738613	384	67676											
GAPVD1	26130	broad.mit.edu	37	chr9	128064368	128064368	+	Missense_Mutation	SNP	G	G	A																															ttcaggagactgcttatggaGaattcttgagtcgattgagg																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:128064368G>A	ENST00000470056.1	+	3	452	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	GAPVD1_ENST00000394083.2_Missense_Mutation_p.E98K|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E98K|GAPVD1_ENST00000394084.1_Missense_Mutation_p.E98K|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E98K|GAPVD1_ENST00000495955.1_Missense_Mutation_p.E98K|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E98K|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E98K|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E98K			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	98					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGCTTATGGAGAATTCTTGAG	0.408													16	103					0	0	0	0	A	128064368	G	A	128064368	3	1	357	1	0	0	0	0	1	0	0	0	6288	943	33	2	298	2	GAPVD1	9	128064368	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	7589550	128064368	13149063	385	67677	828	2									
GAPVD1	26130	broad.mit.edu	37	chr9	128064373	128064373	+	Missense_Mutation	SNP	C	C	G																															gagactgcttatggagaattCttgagtcgattgagggaaaa																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:128064373C>G	ENST00000470056.1	+	3	457	c.297C>G	c.(295-297)ttC>ttG	p.F99L	GAPVD1_ENST00000394083.2_Missense_Mutation_p.F99L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.F99L|GAPVD1_ENST00000394084.1_Missense_Mutation_p.F99L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.F99L|GAPVD1_ENST00000495955.1_Missense_Mutation_p.F99L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.F99L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.F99L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.F99L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	99					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ATGGAGAATTCTTGAGTCGAT	0.403													15	105					0	0	0	0	G	128064373	C	G	128064373	3	3	357	1	0	0	0	0	1	0	0	0	6288	912	32	2	303	2	GAPVD1	9	128064373	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	5	128064373	13149058	386	67678	828	2									
TTC16	158248	broad.mit.edu	37	chr9	130479958	130479958	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctccagctctgtgacttCtcctcggccgcccagaacct	6	10	7	18	2	2	2	0	1	2	1	5	2	3	2	6	1	3	1	6	1	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:130479958C>T	ENST00000373289.3	+	4	413	c.333C>T	c.(331-333)ttC>ttT	p.F111F	PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	111							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TCTGTGACTTCTCCTCGGCCG	0.607													17	70					0	0	0	0	T	130479958	C	T	130479958	2	4	357	1	0	0	0	0	0	0	0	1	16779	912	32	2		2	TTC16	9	130479958	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2415585	130479958	10733473	387	67679											
SPTAN1	6709	broad.mit.edu	37	chr9	131395129	131395129	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatacatggctttcatgatCagccgcgaaactgagaacgt	13	9	10	9	3	2	2	2	2	0	1	2	5	2	2	1	1	4	1	1	1	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:131395129C>G	ENST00000358161.5	+	55	7316	c.7203C>G	c.(7201-7203)atC>atG	p.I2401M	SPTAN1_ENST00000372731.4_Missense_Mutation_p.I2396M|SPTAN1_ENST00000372739.3_Missense_Mutation_p.I2401M			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2396	EF-hand 2.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTTTCATGATCAGCCGCGAAA	0.592													25	121					0	0	0	0	G	131395129	C	G	131395129	3	3	357	1	0	0	0	0	1	0	0	0	15207	816	29	2	7421	2	SPTAN1	9	131395129	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	915171	131395129	9818302	388	67680											
PPP2R4	5524	broad.mit.edu	37	chr9	131882881	131882881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacatgggcaaatggaagCgttctcaggtaccatttgga	12	9	12	8	1	1	1	1	0	1	1	2	3	1	3	1	4	2	3	1	4	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:131882881C>T	ENST00000337738.1	+	2	388	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	PPP2R4_ENST00000348141.5_Missense_Mutation_p.R41C|PPP2R4_ENST00000452489.2_Missense_Mutation_p.R41C|PPP2R4_ENST00000357197.4_Missense_Mutation_p.R41C|PPP2R4_ENST00000355007.3_Missense_Mutation_p.R41C|PPP2R4_ENST00000358994.4_Missense_Mutation_p.R41C|PPP2R4_ENST00000393370.2_Missense_Mutation_p.R41C|PPP2R4_ENST00000347048.4_Missense_Mutation_p.R41C	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	41					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CAAATGGAAGCGTTCTCAGGT	0.483													8	49					0	0	0	0	T	131882881	C	T	131882881	3	4	357	1	0	0	0	0	1	0	0	0	12467	768	27	1	127	1	PPP2R4	9	131882881	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	487752	131882881	9330550	389	67681											
ADAMTS13	11093	broad.mit.edu	37	chr9	136323072	136323072	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccctggggtgaaatcgtGagcccctcgctgagtccagc	6	7	15	13	2	0	3	0	3	0	0	3	3	1	3	4	3	2	1	4	3	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:136323072G>A	ENST00000371929.3	+	28	4377	c.3933G>A	c.(3931-3933)gtG>gtA	p.V1311V	ADAMTS13_ENST00000371910.1_Silent_p.V107V|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Silent_p.V1224V|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.V1255V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1311	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTGAAATCGTGAGCCCCTCGC	0.607													20	77					0	0	0	0	A	136323072	G	A	136323072	2	1	357	1	0	0	0	0	0	0	0	1	258	1277	45	2		2	ADAMTS13	9	136323072	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4440191	136323072	4890359	390	67682											
LHX3	8022	broad.mit.edu	37	chr9	139092511	139092511	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtggcagtcgctgcacttGagacacttgctgtgccagtg	6	11	14	10	1	0	1	0	1	0	1	1	2	0	1	1	1	3	4	1	1	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:139092511G>C	ENST00000371746.3	-	2	301	c.183C>G	c.(181-183)ctC>ctG	p.L61L	LHX3_ENST00000371748.5_Silent_p.L56L	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	56	LIM zinc-binding 1.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CGCTGCACTTGAGACACTTGC	0.612													18	57					0	0	0	0	C	139092511	G	C	139092511	2	2	357	1	0	0	0	0	0	0	0	1	8826	1277	45	2		2	LHX3	9	139092511	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2769439	139092511	2120920	391	67683											
QSOX2	169714	broad.mit.edu	37	chr9	139115958	139115958	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcgcagctctcggtcaggtCctgccggaagcacaccaggg	7	7	13	14	3	2	0	1	0	1	0	5	1	3	1	3	4	3	3	3	4	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:139115958C>T	ENST00000358701.5	-	4	516	c.478_splice	c.e4-1	p.G160_splice		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	160	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	p.G160E(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TCGGTCAGGTCCTGCCGGAAG	0.657													18	63					0	0	0	0	T	139115958	C	T	139115958	5	4	357	1	0	0	0	0	0	0	1	0	12966	869	30	2	1653	2	QSOX2	9	139115958	Splice_Site	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	23447	139115958	2097473	392	67684											
ZMYND19	116225	broad.mit.edu	37	chr9	140482182	140482182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacccaccacagcagctcatGaaggagtctcccagagcccc	11	4	8	18	0	2	2	1	1	1	1	3	3	2	3	5	1	3	2	5	1	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:140482182G>A	ENST00000298585.2	-	3	431	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	69						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGCAGCTCATGAAGGAGTCTC	0.597													33	162					0	0	0	0	A	140482182	G	A	140482182	3	1	357	1	0	0	0	0	1	0	0	0	17805	1290	45	2	494	2	ZMYND19	9	140482182	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1366224	140482182	731249	393	67685											
AKR1E2	83592	broad.mit.edu	37	chr10	4875575	4875575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccataagaagtccttggtgGaaacagcatgcagaaagagt	15	7	12	7	0	0	3	0	0	0	3	1	4	1	4	2	2	3	2	2	2	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:4875575G>A	ENST00000298375.7	+	3	312	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	AKR1E2_ENST00000532248.1_Missense_Mutation_p.E81K|AKR1E2_ENST00000334019.4_Missense_Mutation_p.E81K|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000345253.5_Missense_Mutation_p.E81K	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	81						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						GTCCTTGGTGGAAACAGCATG	0.532													29	102					0	0	0	0	A	4875575	G	A	4875575	3	1	357	1	0	0	0	0	1	0	0	0	474	1175	41	2	251	2	AKR1E2	10	4875575	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08		4875575	130659172	394	67686											
AKR1E2	83592	broad.mit.edu	37	chr10	4889384	4889384	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgatatggataacatcctCagcctaaacaggaatctccg	14	8	7	12	2	2	0	1	0	1	0	4	3	3	2	3	2	3	0	3	2	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:4889384C>T	ENST00000298375.7	+	9	953	c.882C>T	c.(880-882)ctC>ctT	p.L294L	AKR1E2_ENST00000532248.1_Silent_p.L237L|AKR1E2_ENST00000334019.4_Silent_p.L237L|AKR1E2_ENST00000345253.5_Silent_p.L196L	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	294						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						ATAACATCCTCAGCCTAAACA	0.368													20	87					0	0	0	0	T	4889384	C	T	4889384	2	4	357	1	0	0	0	0	0	0	0	1	474	813	29	2		2	AKR1E2	10	4889384	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	13809	4889384	130645363	395	67687											
SEC61A2	55176	broad.mit.edu	37	chr10	12197844	12197844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagggttacggcttggggtCtgggatttccctctttattg	5	15	14	7	1	2	0	0	0	2	0	3	2	3	1	1	5	1	2	1	5	3	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:12197844C>T	ENST00000379033.3	+	6	611	c.464C>T	c.(463-465)tCt>tTt	p.S155F	SEC61A2_ENST00000304267.8_Missense_Mutation_p.S177F|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.S177F|SEC61A2_ENST00000379020.4_Missense_Mutation_p.S177F	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	177						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGCTTGGGGTCTGGGATTTCC	0.488													65	249					0	0	0	0	T	12197844	C	T	12197844	3	4	357	1	0	0	0	0	1	0	0	0	14088	913	32	2	556	2	SEC61A2	10	12197844	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	7308460	12197844	123336903	396	67688											
NMT2	9397	broad.mit.edu	37	chr10	15172229	15172229	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcactcttctagtgatctCtcggattagcactggggcta	7	14	10	10	1	4	1	1	1	3	0	6	2	4	2	0	3	1	3	0	3	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:15172229C>G	ENST00000378165.4	-	7	882	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Missense_Mutation_p.E80Q|NMT2_ENST00000535341.1_Missense_Mutation_p.E255Q|NMT2_ENST00000378150.1_Missense_Mutation_p.E255Q	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	268					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CTAGTGATCTCTCGGATTAGC	0.463													20	68					0	0	0	0	G	15172229	C	G	15172229	3	3	357	1	0	0	0	0	1	0	0	0	10574	922	32	2	718	2	NMT2	10	15172229	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2974385	15172229	120362518	397	67689											
SLC39A12	221074	broad.mit.edu	37	chr10	18242228	18242228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcttccggacaaagctctCagtatcctgggtgccattgt	7	12	11	11	1	1	0	1	0	1	0	4	1	3	1	3	2	3	3	3	2	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:18242228C>T	ENST00000377369.2	+	2	296	c.23C>T	c.(22-24)tCa>tTa	p.S8L	SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S8L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S8L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	8					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACAAAGCTCTCAGTATCCTGG	0.502													21	60					0	0	0	0	T	18242228	C	T	18242228	3	4	357	1	0	0	0	0	1	0	0	0	14703	838	29	2	25	2	SLC39A12	10	18242228	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3069999	18242228	117292519	398	67690											
ABI1	10006	broad.mit.edu	37	chr10	27037639	27037639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccataaatgacagctcatCatccttgtcttttgtataat	11	16	4	10	0	3	1	2	1	1	0	5	1	5	1	2	0	1	2	2	0	4	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:27037639C>T	ENST00000355394.4	-	12	1613	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	ABI1_ENST00000490841.2_Missense_Mutation_p.D284N|ABI1_ENST00000376170.4_Missense_Mutation_p.D406N|ABI1_ENST00000376138.3_Missense_Mutation_p.D407N|ABI1_ENST00000376140.3_Missense_Mutation_p.D436N|ABI1_ENST00000376137.4_Missense_Mutation_p.D378N|ABI1_ENST00000376134.3_Missense_Mutation_p.D437N|ABI1_ENST00000376160.1_Missense_Mutation_p.D430N|ABI1_ENST00000376139.2_Missense_Mutation_p.D431N|ABI1_ENST00000346832.5_Missense_Mutation_p.D451N|ABI1_ENST00000359188.4_Missense_Mutation_p.D435N|ABI1_ENST00000376166.1_Missense_Mutation_p.D401N|ABI1_ENST00000376142.2_Missense_Mutation_p.D463N|ABI1_ENST00000536334.1_Missense_Mutation_p.D349N			Q8IZP0	ABI1_HUMAN	abl-interactor 1	463	SH3.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACAGCTCATCATCCTTGTCT	0.348													11	29					0	0	0	0	T	27037639	C	T	27037639	3	4	357	1	0	0	0	0	1	0	0	0	88	826	29	2	143	2	ABI1	10	27037639	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	8795411	27037639	108497108	399	67691											
YME1L1	10730	broad.mit.edu	37	chr10	27400992	27400992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcaataaagcttctgcgaGattcttatgctcctttgcat	9	15	8	9	1	3	1	1	0	2	1	4	2	4	1	1	1	4	3	1	1	4	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:27400992G>A	ENST00000326799.3	-	20	2384	c.2236C>T	c.(2236-2238)Ctc>Ttc	p.L746F	YME1L1_ENST00000376016.3_Missense_Mutation_p.L689F|YME1L1_ENST00000375972.3_Missense_Mutation_p.L656F	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	746					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCTTCTGCGAGATTCTTATGC	0.393													16	62					0	0	0	0	A	27400992	G	A	27400992	3	1	357	1	0	0	0	0	1	0	0	0	17583	942	33	2	89	2	YME1L1	10	27400992	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	363353	27400992	108133755	400	67692											
MKX	283078	broad.mit.edu	37	chr10	28023669	28023669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatcacaggatggtgaactGgggtattatagcccccttcg	10	11	11	9	1	1	1	1	1	0	0	2	2	1	2	2	4	2	1	2	4	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:28023669G>T	ENST00000375790.5	-	5	986	c.554C>A	c.(553-555)cCa>cAa	p.P185Q	MKX_ENST00000419761.1_Missense_Mutation_p.P185Q			Q8IYA7	MKX_HUMAN	mohawk homeobox	185					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ATGGTGAACTGGGGTATTATA	0.498													12	62					1.52009e-12	1.59695e-12	1	0	T	28023669	G	T	28023669	3	4	357	1	0	0	0	0	1	0	0	0	9679	1348	47	4	516	4	MKX	10	28023669	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	622677	28023669	107511078	401	67693											
RBP3	5949	broad.mit.edu	37	chr10	48385882	48385882	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcatccgtgtgcatgatCttcttccagatgtgctccac	7	13	9	12	1	2	2	0	1	2	1	5	2	5	2	3	1	2	3	3	1	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:48385882C>T	ENST00000224600.4	-	2	3323	c.3210G>A	c.(3208-3210)aaG>aaA	p.K1070K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1070	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGTGCATGATCTTCTTCCAGA	0.562													17	81					0	0	0	0	T	48385882	C	T	48385882	2	4	357	1	0	0	0	0	0	0	0	1	13239	912	32	2		2	RBP3	10	48385882	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	20362213	48385882	87148865	402	67694											
BICC1	80114	broad.mit.edu	37	chr10	60559988	60559988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatggtgcaatatccacttCatcacttggagaaaaagtgc	14	11	8	8	0	2	1	2	0	0	1	3	2	3	1	1	2	2	1	1	2	5	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:60559988C>T	ENST00000373886.3	+	13	1764	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	BICC1_ENST00000263103.1_Missense_Mutation_p.S213L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	587					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATATCCACTTCATCACTTGGA	0.388													8	18					0	0	0	0	T	60559988	C	T	60559988	3	4	357	1	0	0	0	0	1	0	0	0	1432	838	29	2	1810	2	BICC1	10	60559988	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	12174106	60559988	74974759	403	67695											
ANK3	288	broad.mit.edu	37	chr10	61832133	61832133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctaaatctgaggttatatGacatgccaagtctttagcct	11	14	8	8	0	2	2	0	2	2	0	2	2	2	2	2	1	3	2	2	1	6	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:61832133G>A	ENST00000280772.1	-	37	8697	c.8506C>T	c.(8506-8508)Cat>Tat	p.H2836Y	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2836					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGGTTATATGACATGCCAAG	0.408													21	79					0	0	0	0	A	61832133	G	A	61832133	3	1	357	1	0	0	0	0	1	0	0	0	622	1290	45	2	4968	2	ANK3	10	61832133	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1272145	61832133	73702614	404	67696											
ANK3	288	broad.mit.edu	37	chr10	61874040	61874040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaaggtgtctgcagcccagCtgtaatgtctaagagaatct	11	11	10	9	0	3	1	0	0	3	1	3	2	3	1	1	1	3	3	1	1	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:61874040C>T	ENST00000280772.1	-	26	3082	c.2891G>A	c.(2890-2892)aGc>aAc	p.S964N	ANK3_ENST00000355288.2_Missense_Mutation_p.S98N|ANK3_ENST00000503366.1_Missense_Mutation_p.S965N|ANK3_ENST00000373827.2_Missense_Mutation_p.S958N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	964					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCAGCCCAGCTGTAATGTCT	0.348													4	41					0	0	0	0	T	61874040	C	T	61874040	3	4	357	1	0	0	0	0	1	0	0	0	622	797	28	4	10627	4	ANK3	10	61874040	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	41907	61874040	73660707	405	67697											
STOX1	219736	broad.mit.edu	37	chr10	70646267	70646267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaagttccaacttttcaaCacttcacatatgccagtgtt	13	13	4	11	0	2	0	2	0	0	0	3	0	3	0	2	0	3	2	2	0	5	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:70646267C>T	ENST00000298596.6	+	3	2798	c.2715C>T	c.(2713-2715)aaC>aaT	p.N905N	STOX1_ENST00000399169.4_Silent_p.N905N|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Silent_p.N795N|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	905						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AACTTTTCAACACTTCACATA	0.433													13	72					0	0	0	0	T	70646267	C	T	70646267	2	4	357	1	0	0	0	0	0	0	0	1	15409	477	17	4		4	STOX1	10	70646267	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	8772227	70646267	64888480	406	67698											
ANXA11	311	broad.mit.edu	37	chr10	81925936	81925936	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcctgacagttcagatttCagatctttgatcaaatcctg	10	16	6	9	0	4	4	3	2	1	2	6	4	6	4	2	0	0	1	2	0	1	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:81925936C>G	ENST00000438331.1	-	9	1244	c.762G>C	c.(760-762)ctG>ctC	p.L254L	ANXA11_ENST00000265447.4_Silent_p.L254L|ANXA11_ENST00000537102.1_Silent_p.L221L|ANXA11_ENST00000422982.3_Silent_p.L254L|ANXA11_ENST00000360615.4_Silent_p.L254L|ANXA11_ENST00000535999.1_Silent_p.L254L|ANXA11_ENST00000372231.3_Silent_p.L254L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	254					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GTTCAGATTTCAGATCTTTGA	0.358													11	31					0	0	0	0	G	81925936	C	G	81925936	2	3	357	1	0	0	0	0	0	0	0	1	715	813	29	2		2	ANXA11	10	81925936	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	11279669	81925936	53608811	407	67699											
NRG3	10718	broad.mit.edu	37	chr10	84711271	84711271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctgtcaatttcatgtatCatctttggaattgtcatcgt	8	18	8	7	1	5	0	4	0	1	0	6	1	5	1	0	1	1	2	0	1	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:84711271C>T	ENST00000372142.2	+	6	712	c.438C>T	c.(436-438)atC>atT	p.I146I	NRG3_ENST00000545131.1_Silent_p.I17I|NRG3_ENST00000537893.1_Silent_p.I17I|NRG3_ENST00000404547.1_Silent_p.I367I|NRG3_ENST00000404576.2_Silent_p.I171I|NRG3_ENST00000372141.2_Silent_p.I367I|NRG3_ENST00000556918.1_Silent_p.I197I	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	367	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTTCATGTATCATCTTTGGAA	0.378													15	84					0	0	0	0	T	84711271	C	T	84711271	2	4	357	1	0	0	0	0	0	0	0	1	10720	816	29	2		2	NRG3	10	84711271	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2785335	84711271	50823476	408	67700											
GRID1	2894	broad.mit.edu	37	chr10	87484168	87484168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgcagagtggcagaagctGacggcctgggctgggcagca	8	6	18	9	1	0	3	0	1	0	2	0	3	0	3	1	4	3	6	1	4	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:87484168G>A	ENST00000327946.7	-	11	1884	c.1799C>T	c.(1798-1800)tCa>tTa	p.S600L	GRID1_ENST00000536331.1_Missense_Mutation_p.S171L	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	600						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGCAGAAGCTGACGGCCTGGG	0.547										Multiple Myeloma(13;0.14)			9	52					0	0	0	0	A	87484168	G	A	87484168	3	1	357	1	0	0	0	0	1	0	0	0	6821	1294	45	2	1254	2	GRID1	10	87484168	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2772897	87484168	48050579	409	67701											
BTAF1	9044	broad.mit.edu	37	chr10	93711270	93711270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtactgaagaacttttcaatGatgaggatttggattatacc	13	14	9	5	0	1	4	1	3	0	1	1	6	1	6	1	2	3	1	1	2	6	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:93711270G>A	ENST00000265990.6	+	5	819	c.511G>A	c.(511-513)Gat>Aat	p.D171N		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	171					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACTTTTCAATGATGAGGATTT	0.363													5	119					0	0	0	0	A	93711270	G	A	93711270	3	1	357	1	0	0	0	0	1	0	0	0	1544	1290	45	2	529	2	BTAF1	10	93711270	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6227102	93711270	41823477	410	67702											
CYP2C18	1562	broad.mit.edu	37	chr10	96454787	96454787	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaggtttcttaacttgatgGaaaaattcaatgaaaacctc	16	12	7	6	0	2	3	1	2	1	1	3	4	2	4	1	2	2	1	1	2	6	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:96454787G>T	ENST00000285979.6	+	4	794	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Nonsense_Mutation_p.E199*	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TAACTTGATGGAAAAATTCAA	0.388													9	45					0.307466	0.307466	1	0	T	96454787	G	T	96454787	4	4	357	1	0	0	0	0	0	1	0	0	4197	1175	41	2	609	2	CYP2C18	10	96454787	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2743517	96454787	39079960	411	67703											
CYP2C18	1562	broad.mit.edu	37	chr10	96454828	96454828	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggattctgagctctccatgGatccaggtgagatcaagagc	11	9	12	9	0	3	3	1	2	2	2	5	6	4	5	2	3	2	1	2	3	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:96454828G>A	ENST00000285979.6	+	4	835	c.636G>A	c.(634-636)tgG>tgA	p.W212*	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Nonsense_Mutation_p.W212*	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GCTCTCCATGGATCCAGGTGA	0.308													4	33					0	0	0	0	A	96454828	G	A	96454828	4	1	357	1	0	0	0	0	0	1	0	0	4197	1183	41	2	650	2	CYP2C18	10	96454828	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	41	96454828	39079919	412	67704											
CYP2C19	1557	broad.mit.edu	37	chr10	96609722	96609722	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgctacatgacaacaaaGaatttcccaacccagagatg	15	8	7	11	0	0	3	0	1	0	2	1	4	1	3	2	0	4	1	2	0	5	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:96609722G>C	ENST00000371321.3	+	8	1280	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	400					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TGACAACAAAGAATTTCCCAA	0.403													31	114					0	0	0	0	C	96609722	G	C	96609722	3	2	357	1	0	0	0	0	1	0	0	0	4198	943	33	2	1228	2	CYP2C19	10	96609722	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	154894	96609722	38925025	413	67705											
GOLGA7B	401647	broad.mit.edu	37	chr10	99623701	99623701	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccagatcgagcggcagctCtttgaagagactgtgaagac	11	8	12	10	2	1	5	0	2	1	3	3	7	2	5	1	1	2	2	1	1	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:99623701C>G	ENST00000370602.1	+	3	218	c.153C>G	c.(151-153)ctC>ctG	p.L51L		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	51						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						AGCGGCAGCTCTTTGAAGAGA	0.602													4	77					0	0	0	0	G	99623701	C	G	99623701	2	3	357	1	0	0	0	0	0	0	0	1	6611	900	32	2		2	GOLGA7B	10	99623701	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3013979	99623701	35911046	414	67706											
PYROXD2	84795	broad.mit.edu	37	chr10	100144783	100144783	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggggcacggggcgggcGaagtagagctggtccaggga	8	4	21	8	3	0	1	0	0	0	1	1	3	1	2	1	7	2	4	1	7	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:100144783G>A	ENST00000370575.4	-	15	1644	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	532							oxidoreductase activity	p.F532F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CGGGGCGGGCGAAGTAGAGCT	0.612													8	47					0	0	0	0	A	100144783	G	A	100144783	2	1	357	1	0	0	0	0	0	0	0	1	12949	1049	37	1		1	PYROXD2	10	100144783	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	521082	100144783	35389964	415	67707											
CUTC	51076	broad.mit.edu	37	chr10	101507142	101507142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctaataaagcgactcattGagcaggtacgtggactttat	12	11	9	9	2	1	1	1	1	0	0	1	3	1	2	1	2	3	2	1	2	5	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:101507142G>A	ENST00000370476.5	+	6	697	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	190					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GCGACTCATTGAGCAGGTACG	0.443													16	44					0	0	0	0	A	101507142	G	A	101507142	3	1	357	1	0	0	0	0	1	0	0	0	4095	1291	45	2	590	2	CUTC	10	101507142	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1362359	101507142	34027605	416	67708											
ABCC2	1244	broad.mit.edu	37	chr10	101590604	101590604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaggaattcatagaaactgGaaaggtgaacaccacacaga	19	5	10	7	0	1	3	1	1	0	2	1	6	1	5	1	3	2	0	1	3	6	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:101590604G>T	ENST00000370449.4	+	21	2992	c.2879G>T	c.(2878-2880)gGa>gTa	p.G960V		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	960						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATAGAAACTGGAAAGGTGAAC	0.363													10	40					5.50884e-06	5.66018e-06	1	0	T	101590604	G	T	101590604	3	4	357	1	0	0	0	0	1	0	0	0	53	1174	41	2	2961	2	ABCC2	10	101590604	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	83462	101590604	33944143	417	67709											
HPS6	79803	broad.mit.edu	37	chr10	103825450	103825450	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagagcgggcctggccggcCggccagccctccccgctgga	4	4	15	18	4	0	1	0	0	0	1	1	2	1	2	7	5	2	1	7	5	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:103825450C>T	ENST00000299238.5	+	1	304	c.219C>T	c.(217-219)gcC>gcT	p.A73A		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	73						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CCTGGCCGGCCGGCCAGCCCT	0.771									Hermansky-Pudlak syndrome				6	2					0	0	0	0	T	103825450	C	T	103825450	2	4	357	1	0	0	0	0	0	0	0	1	7393	639	23	1		1	HPS6	10	103825450	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2234846	103825450	31709297	418	67710											
PPRC1	23082	broad.mit.edu	37	chr10	103906776	103906776	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccttgggcccagctgcccctCcgcccccatgcatagctgcc	4	7	9	21	1	0	0	0	0	0	0	1	0	1	0	8	1	5	3	8	1	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:103906776C>G	ENST00000278070.2	+	9	4066	c.4027C>G	c.(4027-4029)Ccg>Gcg	p.P1343A	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.P310A|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCTGCCCCTCCGCCCCCATG	0.617													8	45					0	0	0	0	G	103906776	C	G	103906776	3	3	357	1	0	0	0	0	1	0	0	0	12486	855	30	2	4061	2	PPRC1	10	103906776	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	81326	103906776	31627971	419	67711											
PPRC1	23082	broad.mit.edu	37	chr10	103908277	103908277	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagtgacaggaggcggCggtgagcatgtgttcaggga	10	6	20	5	2	1	3	1	2	0	1	1	6	1	5	0	6	1	2	0	6	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:103908277C>T	ENST00000278070.2	+	10	4588	c.4550_splice	c.e10+1	p.R1517_splice	PPRC1_ENST00000413464.2_Splice_Site_p.R1253_splice|PPRC1_ENST00000370012.1_Splice_Site_p.R484_splice|PPRC1_ENST00000489648.1_3'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1517	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAGGAGGCGGCGGTGAGCATG	0.557													38	120					0	0	0	0	T	103908277	C	T	103908277	5	4	357	1	0	0	0	0	0	0	1	0	12486	782	27	1	4587	1	PPRC1	10	103908277	Splice_Site	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1501	103908277	31626470	420	67712											
SMC3	9126	broad.mit.edu	37	chr10	112359528	112359528	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagtttggaagatcagaaGagagtagatgcactgaatga	15	9	13	4	0	1	7	1	3	0	4	1	9	1	8	0	1	1	3	0	1	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:112359528G>C	ENST00000361804.4	+	21	2511	c.2385G>C	c.(2383-2385)aaG>aaC	p.K795N		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	795					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGATCAGAAGAGAGTAGATG	0.423													12	54					0	0	0	0	C	112359528	G	C	112359528	3	2	357	1	0	0	0	0	1	0	0	0	14872	933	33	2	2467	2	SMC3	10	112359528	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	8451251	112359528	23175219	421	67713											
ADRB1	153	broad.mit.edu	37	chr10	115804945	115804945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggtgaaggccttccaccgcGagctggtgcccgaccgcctc	5	7	13	16	4	0	1	0	1	0	0	2	3	1	1	6	3	2	1	6	3	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:115804945G>C	ENST00000369295.2	+	1	1140	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	352					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CTTCCACCGCGAGCTGGTGCC	0.627													6	22					0	0	0	0	C	115804945	G	C	115804945	3	2	357	1	0	0	0	0	1	0	0	0	340	1059	37	3	1056	3	ADRB1	10	115804945	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3445417	115804945	19729802	422	67714											
VWA2	340706	broad.mit.edu	37	chr10	116046112	116046112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcgcgtcacgcaagggcgcGagagctgctcctgctgggtg	6	6	17	12	5	1	1	1	0	0	1	2	2	2	1	1	2	4	4	1	2	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:116046112G>C	ENST00000603594.1	+	11	1733	c.1412G>C	c.(1411-1413)cGa>cCa	p.R471P	VWA2_ENST00000392982.3_Missense_Mutation_p.R471P	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	471	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCAAGGGCGCGAGAGCTGCTC	0.632													22	87					0	0	0	0	C	116046112	G	C	116046112	3	2	357	1	0	0	0	0	1	0	0	0	17335	1058	37	3	1450	3	VWA2	10	116046112	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	241167	116046112	19488635	423	67715											
TACC2	10579	broad.mit.edu	37	chr10	123842303	123842303	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaggttctttgctgccCagcccaccaccgtcccagga	8	7	9	17	1	1	1	0	0	1	1	2	2	2	2	6	2	3	2	6	2	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:123842303C>T	ENST00000369005.1	+	4	628	c.288C>T	c.(286-288)ccC>ccT	p.P96P	TACC2_ENST00000515273.1_Silent_p.P96P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.P96P|TACC2_ENST00000453444.2_Silent_p.P96P|TACC2_ENST00000515603.1_Silent_p.P96P|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	96						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTTGCTGCCCAGCCCACCAC	0.642													29	85					0	0	0	0	T	123842303	C	T	123842303	2	4	357	1	0	0	0	0	0	0	0	1	15593	581	21	4		4	TACC2	10	123842303	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	7796191	123842303	11692444	424	67716											
TACC2	10579	broad.mit.edu	37	chr10	123970668	123970668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taccacggccccggaggcagGggaggtaaccccatcggata	10	4	14	13	3	0	0	0	0	0	0	1	3	0	3	5	7	2	2	5	7	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:123970668G>A	ENST00000369005.1	+	9	7068	c.6728G>A	c.(6727-6729)gGg>gAg	p.G2243E	TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515273.1_Missense_Mutation_p.G2247E|TACC2_ENST00000358010.1_Missense_Mutation_p.G389E|TACC2_ENST00000334433.3_Missense_Mutation_p.G2243E|TACC2_ENST00000453444.2_Missense_Mutation_p.G2247E|TACC2_ENST00000360561.3_Missense_Mutation_p.G321E|TACC2_ENST00000515603.1_Missense_Mutation_p.G2198E|TACC2_ENST00000513429.1_Missense_Mutation_p.G389E|TACC2_ENST00000368999.1_Missense_Mutation_p.G321E|TACC2_ENST00000369004.3_Missense_Mutation_p.G321E|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000260733.3_Missense_Mutation_p.G321E	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2243						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCGGAGGCAGGGGAGGTAACC	0.612													12	57					0	0	0	0	A	123970668	G	A	123970668	3	1	357	1	0	0	0	0	1	0	0	0	15593	1232	43	4	6830	4	TACC2	10	123970668	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	128365	123970668	11564079	425	67717											
TACC2	10579	broad.mit.edu	37	chr10	124008654	124008654	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggccctgaaggtgcacgcGgaggagaaactggacaggta	12	4	16	9	2	0	2	0	1	0	1	0	5	0	4	1	6	2	2	1	6	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:124008654G>A	ENST00000369005.1	+	21	8983	c.8643G>A	c.(8641-8643)gcG>gcA	p.A2881A	TACC2_ENST00000369000.1_Silent_p.A504A|TACC2_ENST00000515273.1_Silent_p.A2808A|TACC2_ENST00000358010.1_Silent_p.A1027A|TACC2_ENST00000334433.3_Silent_p.A2881A|TACC2_ENST00000453444.2_Silent_p.A2808A|TACC2_ENST00000360561.3_Silent_p.A929A|TACC2_ENST00000515603.1_Silent_p.A2759A|TACC2_ENST00000513429.1_Silent_p.A1027A|TACC2_ENST00000368999.1_Silent_p.A971A|TACC2_ENST00000369004.3_Silent_p.A941A|TACC2_ENST00000369001.1_Silent_p.A508A|TACC2_ENST00000260733.3_Silent_p.A959A	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2881						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGTGCACGCGGAGGAGAAAC	0.607													6	25					0	0	0	0	A	124008654	G	A	124008654	2	1	357	1	0	0	0	0	0	0	0	1	15593	1103	39	1		1	TACC2	10	124008654	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	37986	124008654	11526093	426	67718											
CHST15	51363	broad.mit.edu	37	chr10	125780896	125780896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcgtccgcggatttattcGaacttgcaaagtagagatag	12	11	11	7	4	0	1	0	0	0	1	3	4	1	2	1	1	2	2	1	1	5	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:125780896G>A	ENST00000346248.5	-	6	1865	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L	CHST15_ENST00000435907.1_Missense_Mutation_p.S408L|CHST15_ENST00000421115.1_Missense_Mutation_p.S408L	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	408					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GGATTTATTCGAACTTGCAAA	0.423													7	28					0	0	0	0	A	125780896	G	A	125780896	3	1	357	1	0	0	0	0	1	0	0	0	3432	1059	37	1	474	1	CHST15	10	125780896	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1772242	125780896	9753851	427	67719											
MMP21	118856	broad.mit.edu	37	chr10	127455440	127455440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctatatttctgaaaggatGattttgtggtattactgctg	10	18	9	4	0	2	2	0	2	2	0	2	3	2	3	0	2	2	2	0	2	5	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:127455440G>A	ENST00000368808.3	-	7	1500	c.1501C>T	c.(1501-1503)Cat>Tat	p.H501Y		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	501					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTGAAAGGATGATTTTGTGGT	0.348													21	41					0	0	0	0	A	127455440	G	A	127455440	3	1	357	1	0	0	0	0	1	0	0	0	9729	1290	45	2	212	2	MMP21	10	127455440	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1674544	127455440	8079307	428	67720											
DOCK1	1793	broad.mit.edu	37	chr10	128796359	128796359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccttccatacacagtctCaaaagcagaacatagatatt	15	12	4	10	0	1	2	1	0	1	2	4	2	3	2	2	0	3	1	2	0	6	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:128796359C>G	ENST00000280333.6	+	8	722	c.613C>G	c.(613-615)Caa>Gaa	p.Q205E		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	205					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TACACAGTCTCAAAAGCAGAA	0.388													8	36					0	0	0	0	G	128796359	C	G	128796359	3	3	357	1	0	0	0	0	1	0	0	0	4720	827	29	2	643	2	DOCK1	10	128796359	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1340919	128796359	6738388	429	67721											
PTPRE	5791	broad.mit.edu	37	chr10	129877957	129877957	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacatatggtgcaaaccCtggtaagaatctgaataagg	15	8	10	8	0	1	2	0	1	1	1	1	3	1	2	2	3	2	2	2	3	6	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:129877957C>G	ENST00000254667.3	+	20	2305	c.2026C>G	c.(2026-2028)Ctg>Gtg	p.L676V	PTPRE_ENST00000306042.5_Missense_Mutation_p.L618V|PTPRE_ENST00000419012.2_Missense_Mutation_p.L676V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	676	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GGTGCAAACCCTGGTAAGAAT	0.398													14	42					0	0	0	0	G	129877957	C	G	129877957	3	3	357	1	0	0	0	0	1	0	0	0	12882	680	24	4	2135	4	PTPRE	10	129877957	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1081598	129877957	5656790	430	67722											
BRSK2	9024	broad.mit.edu	37	chr11	1471018	1471018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctccaggtctcggtccatCagcggtgcctcctcaggcct	5	9	10	17	2	3	0	2	0	1	0	7	0	6	0	6	4	2	0	6	4	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:1471018C>G	ENST00000308219.9	+	13	1625	c.1239C>G	c.(1237-1239)atC>atG	p.I413M	BRSK2_ENST00000308230.5_Missense_Mutation_p.I435M|BRSK2_ENST00000531197.1_Missense_Mutation_p.I413M|BRSK2_ENST00000528710.1_Missense_Mutation_p.I353M|BRSK2_ENST00000526678.1_Missense_Mutation_p.I435M|BRSK2_ENST00000382179.1_Missense_Mutation_p.I459M|BRSK2_ENST00000528841.1_Missense_Mutation_p.I413M|BRSK2_ENST00000544817.1_Missense_Mutation_p.I108M	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	413					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CTCGGTCCATCAGCGGTGCCT	0.682													31	126					0	0	0	0	G	1471018	C	G	1471018	3	3	357	1	0	0	0	0	1	0	0	0	1532	816	29	2	1289	2	BRSK2	11	1471018	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08		1471018	133535498	431	67723											
OR52K1	390036	broad.mit.edu	37	chr11	4510973	4510973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacatactccttgctattttCtatctccttttcccacccat	7	17	1	16	0	2	0	0	0	2	0	5	0	4	0	4	0	2	1	4	0	3	8			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:4510973C>G	ENST00000307632.3	+	1	865	c.843C>G	c.(841-843)ttC>ttG	p.F281L		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTGCTATTTTCTATCTCCTTT	0.483													27	131					0	0	0	0	G	4510973	C	G	4510973	3	3	357	1	0	0	0	0	1	0	0	0	11194	912	32	2	845	2	OR52K1	11	4510973	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3039955	4510973	130495543	432	67724											
OR52I2	143502	broad.mit.edu	37	chr11	4608662	4608662	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccaatgtggttgtccactCctactgtgagcacatagctt	8	13	8	12	0	0	1	0	1	0	0	3	1	3	1	3	1	3	3	3	1	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:4608662C>G	ENST00000312614.4	+	1	642	c.620C>G	c.(619-621)tCc>tGc	p.S207C		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTGTCCACTCCTACTGTGAG	0.502													35	152					0	0	0	0	G	4608662	C	G	4608662	3	3	357	1	0	0	0	0	1	0	0	0	11192	855	30	2	622	2	OR52I2	11	4608662	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	97689	4608662	130397854	433	67725											
OR51V1	283111	broad.mit.edu	37	chr11	5221755	5221755	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaggcttggctcagtcCatatcacatggagaaccatg	10	9	12	10	0	2	1	2	0	0	1	3	2	3	1	2	4	2	3	2	4	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:5221755C>T	ENST00000321255.1	-	1	175	c.176G>A	c.(175-177)tGg>tAg	p.W59*		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTCAGTCCATATCACATG	0.532													19	106					0	0	0	0	T	5221755	C	T	5221755	4	4	357	1	0	0	0	0	0	1	0	0	11178	595	21	4	792	4	OR51V1	11	5221755	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	613093	5221755	129784761	434	67726											
TRIM5	85363	broad.mit.edu	37	chr11	5701153	5701153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttctgcccctctgggctCaacttgacctccctgagctt	5	13	7	16	0	3	2	1	2	2	0	4	2	4	2	4	1	3	2	4	1	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:5701153C>G	ENST00000305836.5	-	2	557	c.255G>C	c.(253-255)ttG>ttC	p.L85F	TRIM5_ENST00000396855.3_Missense_Mutation_p.L85F|TRIM5_ENST00000396853.4_Missense_Mutation_p.L85F|TRIM5_ENST00000396847.3_Missense_Mutation_p.L85F|TRIM5_ENST00000380027.1_Missense_Mutation_p.L85F|TRIM5_ENST00000380034.3_Missense_Mutation_p.L85F			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	85					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCTCTGGGCTCAACTTGACCT	0.527													20	88					0	0	0	0	G	5701153	C	G	5701153	3	3	357	1	0	0	0	0	1	0	0	0	16620	825	29	2	1493	2	TRIM5	11	5701153	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	479398	5701153	129305363	435	67727											
DCHS1	8642	broad.mit.edu	37	chr11	6645054	6645054	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctacatgcagcagctcagctCcaacaggtgtgtcctcaggt	9	9	10	13	0	2	0	2	0	0	0	4	0	4	0	2	2	6	4	2	2	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:6645054C>G	ENST00000299441.3	-	21	8264	c.7853G>C	c.(7852-7854)gGa>gCa	p.G2618A		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2618	Cadherin 25.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCTCAGCTCCAACAGGTGT	0.567													46	166					0	0	0	0	G	6645054	C	G	6645054	3	3	357	1	0	0	0	0	1	0	0	0	4319	855	30	2	2047	2	DCHS1	11	6645054	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	943901	6645054	128361462	436	67728											
OR10A4	283297	broad.mit.edu	37	chr11	6898652	6898652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctatagcactgccatcctCacgtatttccgaccccaatc	9	12	4	16	2	2	0	1	0	1	0	5	1	4	0	5	0	2	2	5	0	4	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:6898652C>T	ENST00000379829.2	+	1	797	c.774C>T	c.(772-774)ctC>ctT	p.L258L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGCCATCCTCACGTATTTCC	0.522													21	99					0	0	0	0	T	6898652	C	T	6898652	2	4	357	1	0	0	0	0	0	0	0	1	10963	813	29	2		2	OR10A4	11	6898652	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	253598	6898652	128107864	437	67729											
ST5	6764	broad.mit.edu	37	chr11	8737201	8737201	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagctcgctggtggtgctGaggctgtcttcattgaggct	5	12	15	9	1	2	2	1	2	1	0	3	2	2	2	0	4	3	6	0	4	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:8737201G>C	ENST00000534127.1	-	9	2179	c.1794C>G	c.(1792-1794)ctC>ctG	p.L598L	ST5_ENST00000357665.1_Silent_p.L598L|ST5_ENST00000526099.1_Silent_p.L111L|ST5_ENST00000526757.1_Silent_p.L178L|ST5_ENST00000313726.6_Silent_p.L598L|ST5_ENST00000530438.1_Silent_p.L178L|ST5_ENST00000530991.1_Silent_p.L70L	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	598					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TGGTGGTGCTGAGGCTGTCTT	0.672													13	59					0	0	0	0	C	8737201	G	C	8737201	2	2	357	1	0	0	0	0	0	0	0	1	15310	1277	45	2		2	ST5	11	8737201	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1838549	8737201	126269315	438	67730											
ST5	6764	broad.mit.edu	37	chr11	8737229	8737229	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcattgaggctggagggtGaggacggcagactcagctga	9	8	16	8	1	2	4	2	3	0	1	2	6	2	6	0	5	1	3	0	5	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:8737229G>C	ENST00000534127.1	-	9	2151	c.1766C>G	c.(1765-1767)tCa>tGa	p.S589*	ST5_ENST00000357665.1_Nonsense_Mutation_p.S589*|ST5_ENST00000526099.1_Nonsense_Mutation_p.S102*|ST5_ENST00000526757.1_Nonsense_Mutation_p.S169*|ST5_ENST00000313726.6_Nonsense_Mutation_p.S589*|ST5_ENST00000530438.1_Nonsense_Mutation_p.S169*|ST5_ENST00000530991.1_Nonsense_Mutation_p.S61*	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	589					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCTGGAGGGTGAGGACGGCAG	0.642													17	81					0	0	0	0	C	8737229	G	C	8737229	4	2	357	1	0	0	0	0	0	1	0	0	15310	1294	45	2	1707	2	ST5	11	8737229	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	28	8737229	126269287	439	67731											
IPO7	10527	broad.mit.edu	37	chr11	9462001	9462001	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttatattatgacttggcaGaggaactggggagtgatgaa	13	11	13	4	0	0	4	0	3	0	1	0	6	0	6	0	4	1	1	0	4	5	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:9462001G>A	ENST00000379719.3	+	23	2837		c.e23-1			NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7						interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGACTTGGCAGAGGAACTGGG	0.358													7	52					0	0	0	0	A	9462001	G	A	9462001	5	1	357	1	0	0	0	0	0	0	1	0	7850	956	33	2	2785	2	IPO7	11	9462001	Splice_Site	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	724772	9462001	125544515	440	67732											
IPO7	10527	broad.mit.edu	37	chr11	9462019	9462019	+	Missense_Mutation	SNP	G	G	A																															cagaggaactggggagtgatGaagatgatattgatgaagat																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:9462019G>A	ENST00000379719.3	+	23	2855	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	905	Asp-rich.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GGGGAGTGATGAAGATGATAT	0.373													13	55					0	0	0	0	A	9462019	G	A	9462019	3	1	357	1	0	0	0	0	1	0	0	0	7850	1291	45	2	2803	2	IPO7	11	9462019	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	18	9462019	125544497	441	67733	829	2									
IPO7	10527	broad.mit.edu	37	chr11	9462025	9462025	+	Missense_Mutation	SNP	G	G	A																															aactggggagtgatgaagatGatattgatgaagatgggcaa																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:9462025G>A	ENST00000379719.3	+	23	2861	c.2719G>A	c.(2719-2721)Gat>Aat	p.D907N		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	907	Asp-rich.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGATGAAGATGATATTGATGA	0.373													15	61					0	0	0	0	A	9462025	G	A	9462025	3	1	357	1	0	0	0	0	1	0	0	0	7850	1290	45	2	2809	2	IPO7	11	9462025	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6	9462025	125544491	442	67734	829	2									
SWAP70	23075	broad.mit.edu	37	chr11	9749698	9749698	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactatgtgagtgaggatctGaaggataagaaaggagacat	16	9	13	3	0	1	5	0	3	1	2	1	8	1	7	0	3	1	0	0	3	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:9749698G>C	ENST00000318950.6	+	5	844	c.741G>C	c.(739-741)ctG>ctC	p.L247L	SWAP70_ENST00000447399.2_Silent_p.L189L	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	247	PH.					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GTGAGGATCTGAAGGATAAGA	0.423													24	107					0	0	0	0	C	9749698	G	C	9749698	2	2	357	1	0	0	0	0	0	0	0	1	15515	1277	45	2		2	SWAP70	11	9749698	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	287673	9749698	125256818	443	67735											
EIF4G2	1982	broad.mit.edu	37	chr11	10820941	10820941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgtttcatcgctggggggGtttacttcactagaaatgta	8	15	11	7	1	3	1	2	0	1	1	4	1	3	1	0	3	1	4	0	3	4	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:10820941G>T	ENST00000526148.1	-	20	2865	c.2355C>A	c.(2353-2355)aaC>aaA	p.N785K	EIF4G2_ENST00000525681.1_Missense_Mutation_p.N785K|EIF4G2_ENST00000396525.2_Missense_Mutation_p.N747K|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.N785K	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	785	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CGCTGGGGGGGTTTACTTCAC	0.418													11	42					4.3838e-07	4.52912e-07	1	0	T	10820941	G	T	10820941	3	4	357	1	0	0	0	0	1	0	0	0	5075	1252	44	4	380	4	EIF4G2	11	10820941	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1071243	10820941	124185575	444	67736											
MICAL2	9645	broad.mit.edu	37	chr11	12229683	12229683	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctgaagatcaagaaaatCaaagtacagtataattttct	17	12	5	7	0	3	3	2	1	1	2	4	3	4	3	1	0	1	2	1	0	8	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:12229683C>G	ENST00000256194.4	+	5	874	c.586C>G	c.(586-588)Caa>Gaa	p.Q196E	MICAL2_ENST00000342902.5_Missense_Mutation_p.Q196E|MICAL2_ENST00000537344.1_Missense_Mutation_p.Q196E|MICAL2_ENST00000379612.3_Missense_Mutation_p.Q196E|MICAL2_ENST00000527546.1_Missense_Mutation_p.Q196E|MICAL2_ENST00000527195.1_3'UTR	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	196						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCAAGAAAATCAAAGTACAGT	0.403													16	53					0	0	0	0	G	12229683	C	G	12229683	3	3	357	1	0	0	0	0	1	0	0	0	9639	827	29	2	596	2	MICAL2	11	12229683	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1408742	12229683	122776833	445	67737											
TPH1	7166	broad.mit.edu	37	chr11	18057546	18057546	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatctggtagattcacagaGagaacattggtatgagactt	13	13	10	5	0	2	4	1	1	1	4	2	6	2	4	0	2	1	2	0	2	4	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:18057546G>C	ENST00000250018.2	-	2	823	c.261C>G	c.(259-261)ctC>ctG	p.L87L	TPH1_ENST00000341556.2_Silent_p.L87L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	87	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GATTCACAGAGAGAACATTGG	0.333													5	41					0	0	0	0	C	18057546	G	C	18057546	2	2	357	1	0	0	0	0	0	0	0	1	16496	929	33	2		2	TPH1	11	18057546	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	5827863	18057546	116948970	446	67738											
SLC6A5	9152	broad.mit.edu	37	chr11	20636262	20636262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccatcccaaaatacagatCaagaactcgactttctgcat	15	9	5	12	1	2	2	1	0	1	2	4	4	3	2	2	0	3	1	2	0	5	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:20636262C>G	ENST00000525748.1	+	6	1296	c.1023C>G	c.(1021-1023)atC>atG	p.I341M		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	341					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AAATACAGATCAAGAACTCGA	0.408													26	93					0	0	0	0	G	20636262	C	G	20636262	3	3	357	1	0	0	0	0	1	0	0	0	14775	816	29	2	1045	2	SLC6A5	11	20636262	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2578716	20636262	114370254	447	67739											
DCDC1	341019	broad.mit.edu	37	chr11	31128423	31128423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaatttcttggccattctCatcaaaaagccgcattgaag	12	13	6	10	1	3	1	2	1	2	0	4	1	3	1	2	1	1	1	2	1	4	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:31128423C>T	ENST00000597505.1	-	11	1671	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	218					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGGCCATTCTCATCAAAAAGC	0.418											OREG0020856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	43					0	0	0	0	T	31128423	C	T	31128423	3	4	357	1	0	0	0	0	1	0	0	0	4316	841	29	2		2	DCDC1	11	31128423	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	10492161	31128423	103878093	448	67740											
RCN1	5954	broad.mit.edu	37	chr11	32124996	32124996	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgcacaggctgaggccagGcatctggtatatgaatcaga	12	8	12	9	0	2	3	1	2	1	1	2	3	2	3	1	4	1	4	1	4	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:32124996G>A	ENST00000054950.3	+	5	1151	c.858G>A	c.(856-858)agG>agA	p.R286R	RCN1_ENST00000532942.1_Silent_p.R235R|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	286	EF-hand 6.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					CTGAGGCCAGGCATCTGGTAT	0.433													17	69					0	0	0	0	A	32124996	G	A	32124996	2	1	357	1	0	0	0	0	0	0	0	1	13261	1194	42	4		4	RCN1	11	32124996	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	996573	32124996	102881520	449	67741											
CAPRIN1	4076	broad.mit.edu	37	chr11	34074029	34074029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccggaccgccaccgccgtCgggttcctccgggagtgagg	4	6	16	15	6	0	1	0	1	0	0	4	3	3	3	7	4	0	1	7	4	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:34074029C>T	ENST00000341394.4	+	2	251	c.62C>T	c.(61-63)tCg>tTg	p.S21L	CAPRIN1_ENST00000532820.1_Missense_Mutation_p.S21L|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.S21L|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.S21L	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	21					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CCACCGCCGTCGGGTTCCTCC	0.716													11	23					0	0	0	0	T	34074029	C	T	34074029	3	4	357	1	0	0	0	0	1	0	0	0	2660	893	31	1	64	1	CAPRIN1	11	34074029	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1949033	34074029	100932487	450	67742											
AMBRA1	55626	broad.mit.edu	37	chr11	46565585	46565585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccaagtggatcaaatctCaccagactaaaatcacagaa	17	8	6	10	0	3	2	3	0	1	2	5	3	4	3	2	1	0	0	2	1	5	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:46565585C>T	ENST00000458649.2	-	6	976	c.558G>A	c.(556-558)gtG>gtA	p.V186V	AMBRA1_ENST00000314845.3_Silent_p.V186V|AMBRA1_ENST00000533727.1_Silent_p.V186V|AMBRA1_ENST00000298834.3_Silent_p.V186V|AMBRA1_ENST00000534300.1_Silent_p.V186V|AMBRA1_ENST00000426438.1_Silent_p.V186V|AMBRA1_ENST00000528950.1_Silent_p.V186V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	186					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GATCAAATCTCACCAGACTAA	0.373													15	57					0	0	0	0	T	46565585	C	T	46565585	2	4	357	1	0	0	0	0	0	0	0	1	565	813	29	2		2	AMBRA1	11	46565585	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	12491556	46565585	88440931	451	67743											
CKAP5	9793	broad.mit.edu	37	chr11	46842734	46842734	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatcttaccttgtgttCacatttctgatcaactggca	11	14	7	9	0	4	2	2	1	2	1	4	3	4	2	1	1	2	2	1	1	4	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:46842734C>A	ENST00000529230.1	-	2	95	c.49G>T	c.(49-51)Gaa>Taa	p.E17*	CKAP5_ENST00000354558.3_Nonsense_Mutation_p.E17*|CKAP5_ENST00000312055.5_Nonsense_Mutation_p.E17*|CKAP5_ENST00000415402.1_Nonsense_Mutation_p.E17*			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	17					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACCTTGTGTTCACATTTCTGA	0.383													30	119					3.76114e-14	3.97812e-14	1	0	A	46842734	C	A	46842734	4	1	357	1	0	0	0	0	0	1	0	0	3475	835	29	2	6221	2	CKAP5	11	46842734	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	277149	46842734	88163782	452	67744											
OR5T3	390154	broad.mit.edu	37	chr11	56019807	56019807	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtcaccatgtttatattGacaggcttcacagatgattt	12	14	8	7	0	2	3	2	2	0	1	2	4	2	3	1	1	0	2	1	1	3	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:56019807G>A	ENST00000303059.3	+	1	132	c.132G>A	c.(130-132)ttG>ttA	p.L44L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGTTTATATTGACAGGCTTCA	0.363													12	54					0	0	0	0	A	56019807	G	A	56019807	2	1	357	1	0	0	0	0	0	0	0	1	11254	1281	45	2		2	OR5T3	11	56019807	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	9177073	56019807	78986709	453	67745											
OR8J1	219477	broad.mit.edu	37	chr11	56128565	56128565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgtgttttacacgttGgtaattcctatgctgaatcc	7	17	8	9	1	1	1	0	1	1	0	3	1	3	1	2	1	2	5	2	1	4	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:56128565G>T	ENST00000303039.3	+	1	875	c.843G>T	c.(841-843)ttG>ttT	p.L281F		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTTACACGTTGGTAATTCCTA	0.393													12	54					0.00136819	0.00138598	1	0	T	56128565	G	T	56128565	3	4	357	1	0	0	0	0	1	0	0	0	11312	1339	47	4	845	4	OR8J1	11	56128565	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	108758	56128565	78877951	454	67746											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57068053	57068053	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttcagggcttgaagccaGttgggcgacgatccttctga	8	11	13	9	2	2	2	1	2	1	0	3	4	3	2	2	2	1	3	2	2	1	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:57068053G>C	ENST00000532437.1	-	10	5462	c.5151C>G	c.(5149-5151)aaC>aaG	p.N1717K	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.N1717K			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1717	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTTGAAGCCAGTTGGGCGACG	0.527													20	69					0	0	0	0	C	57068053	G	C	57068053	3	2	357	1	0	0	0	0	1	0	0	0	16414	1020	36	4	42	4	TNKS1BP1	11	57068053	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	939488	57068053	77938463	455	67747											
SSRP1	6749	broad.mit.edu	37	chr11	57095837	57095837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttgagctgtttccgcttCttctcatcccggtcactgtc	3	18	7	13	2	3	1	2	1	2	0	7	1	5	1	2	1	1	3	2	1	0	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:57095837C>T	ENST00000278412.2	-	13	1811	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	515	Arg/Lys-rich (basic).				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GTTTCCGCTTCTTCTCATCCC	0.567													28	88					0	0	0	0	T	57095837	C	T	57095837	2	4	357	1	0	0	0	0	0	0	0	1	15284	912	32	2		2	SSRP1	11	57095837	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	27784	57095837	77910679	456	67748											
SMTNL1	219537	broad.mit.edu	37	chr11	57310641	57310641	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacgccaagacagcctctCaggaggagacaggccagagg	13	2	15	11	1	1	3	1	0	1	3	2	6	1	5	3	5	1	0	3	5	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:57310641C>T	ENST00000457912.1	+	2	580	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	SMTNL1_ENST00000399154.2_Nonsense_Mutation_p.Q176*|SMTNL1_ENST00000527972.1_Nonsense_Mutation_p.Q176*			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	176										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GACAGCCTCTCAGGAGGAGAC	0.547													6	31					0	0	0	0	T	57310641	C	T	57310641	4	4	357	1	0	0	0	0	0	1	0	0	14903	827	29	2	586	2	SMTNL1	11	57310641	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	214804	57310641	77695875	457	67749											
ZFP91	80829	broad.mit.edu	37	chr11	58378451	58378451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaagaggaggaggaagaaGagatgttaatcagtgaagag	18	5	17	1	0	1	5	1	1	0	4	1	10	1	9	0	4	0	1	0	4	5	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:58378451G>A	ENST00000316059.6	+	5	817	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E216K	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	216	Glu-rich.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	p.E216K(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GGAGGAAGAAGAGATGTTAAT	0.383													8	41					0	0	0	0	A	58378451	G	A	58378451	3	1	357	1	0	0	0	0	1	0	0	0	17750	943	33	2	664	2	ZFP91	11	58378451	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1067810	58378451	76628065	458	67750											
MS4A15	219995	broad.mit.edu	37	chr11	60531232	60531232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagctcccgccagcaatgGagtgtttgttgtcatcccgc	6	11	11	13	2	1	0	1	0	0	0	3	1	3	1	3	1	3	5	3	1	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:60531232G>T	ENST00000405633.3	+	2	105	c.26G>T	c.(25-27)gGa>gTa	p.G9V	MS4A15_ENST00000528170.1_Missense_Mutation_p.G9V|MS4A15_ENST00000337911.4_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	9						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						GCCAGCAATGGAGTGTTTGTT	0.527													35	146					6.97489e-18	7.41082e-18	1	0	T	60531232	G	T	60531232	3	4	357	1	0	0	0	0	1	0	0	0	9929	1174	41	2	28	2	MS4A15	11	60531232	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2152781	60531232	74475284	459	67751											
TMEM132A	54972	broad.mit.edu	37	chr11	60696151	60696151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcttccctcgcactggttCtcacaggcctccaccacacg	7	8	8	18	2	1	0	1	0	1	0	5	1	3	0	4	2	1	3	4	2	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:60696151C>T	ENST00000005286.4	+	4	738	c.585C>T	c.(583-585)ttC>ttT	p.F195F	TMEM132A_ENST00000453848.2_Silent_p.F195F	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	195						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CGCACTGGTTCTCACAGGCCT	0.677													18	68					0	0	0	0	T	60696151	C	T	60696151	2	4	357	1	0	0	0	0	0	0	0	1	16139	912	32	2		2	TMEM132A	11	60696151	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	164919	60696151	74310365	460	67752											
MAP3K11	4296	broad.mit.edu	37	chr11	65375490	65375490	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagcaaggcagtcaatGccacggtatggcacctcccc	10	5	10	16	1	1	0	1	0	0	0	2	0	2	0	5	3	2	4	5	3	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:65375490G>C	ENST00000309100.3	-	3	1457	c.972C>G	c.(970-972)ggC>ggG	p.G324G	MAP3K11_ENST00000530153.1_Silent_p.G67G	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	324	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGCAGTCAATGCCACGGTATG	0.592													17	73					0	0	0	0	C	65375490	G	C	65375490	2	2	357	1	0	0	0	0	0	0	0	1	9314	1306	46	4		4	MAP3K11	11	65375490	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4679339	65375490	69631026	461	67753											
NUMA1	4926	broad.mit.edu	37	chr11	71716366	71716366	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgcggttccagtcatcCagctgctcaggctcatcctg	7	10	10	14	1	3	0	3	0	0	0	6	0	6	0	3	2	3	5	3	2	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:71716366C>A	ENST00000393695.3	-	23	6073	c.5742G>T	c.(5740-5742)ctG>ctT	p.L1914L	NUMA1_ENST00000358965.6_Silent_p.L1900L|NUMA1_ENST00000351960.6_Silent_p.L778L	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1914					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCCAGTCATCCAGCTGCTCAG	0.597			T	RARA	APL								15	66					3.41278e-10	3.5693e-10	1	0	A	71716366	C	A	71716366	2	1	357	1	0	0	0	0	0	0	0	1	10821	581	21	4		4	NUMA1	11	71716366	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	6340876	71716366	63290150	462	67754											
NUMA1	4926	broad.mit.edu	37	chr11	71724874	71724874	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctccaagctgctgatgagGctatttttcctctcagcctc	6	14	7	14	0	1	2	1	2	1	0	6	2	4	2	4	1	3	3	4	1	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:71724874G>A	ENST00000393695.3	-	15	4006	c.3675C>T	c.(3673-3675)agC>agT	p.S1225S	NUMA1_ENST00000358965.6_Silent_p.S1225S|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1225					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGATGAGGCTATTTTTCC	0.602			T	RARA	APL								34	105					0	0	0	0	A	71724874	G	A	71724874	2	1	357	1	0	0	0	0	0	0	0	1	10821	1194	42	4		4	NUMA1	11	71724874	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	8508	71724874	63281642	463	67755											
FOLR3	2352	broad.mit.edu	37	chr11	71850461	71850461	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggactgtgagcgctggtGggaggactgtcgcacctcct	7	8	16	10	2	0	2	0	1	0	1	2	5	1	5	2	4	1	2	2	4	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:71850461G>A	ENST00000445078.2	+	4	619	c.548G>A	c.(547-549)tGg>tAg	p.W183*	FOLR3_ENST00000456237.1_Nonsense_Mutation_p.W185*|FOLR3_ENST00000442948.2_Nonsense_Mutation_p.W142*			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	141					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GAGCGCTGGTGGGAGGACTGT	0.562													3	23					0	0	0	0	A	71850461	G	A	71850461	4	1	357	1	0	0	0	0	0	1	0	0	6028	1357	47	4	436	4	FOLR3	11	71850461	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	125587	71850461	63156055	464	67756											
DNAJB13	374407	broad.mit.edu	37	chr11	73679416	73679416	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatcatcccagcagacatCattttcatcgtaaaggagaa	16	9	6	10	1	3	2	3	0	0	2	5	3	4	2	1	1	2	2	1	1	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:73679416C>T	ENST00000339764.1	+	6	1384	c.633C>T	c.(631-633)atC>atT	p.I211I	RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000543947.1_Silent_p.I36I|DNAJB13_ENST00000537753.1_Silent_p.I36I	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	211					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CAGCAGACATCATTTTCATCG	0.547													13	68					0	0	0	0	T	73679416	C	T	73679416	2	4	357	1	0	0	0	0	0	0	0	1	4654	816	29	2		2	DNAJB13	11	73679416	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1828955	73679416	61327100	465	67757											
NEU3	10825	broad.mit.edu	37	chr11	74717448	74717448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgagcagattgccttcCgcctgtttacacaccgggag	8	10	12	11	2	0	2	0	1	0	1	1	3	1	3	4	1	3	2	4	1	1	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:74717448C>T	ENST00000294064.4	+	3	2224	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C	NEU3_ENST00000545272.1_Missense_Mutation_p.R324C|NEU3_ENST00000544263.1_Missense_Mutation_p.R400C|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000531509.1_Missense_Mutation_p.R433C|NEU3_ENST00000529024.1_Intron	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	433								p.R433S(2)		kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GATTGCCTTCCGCCTGTTTAC	0.537													28	165					0	0	0	0	T	74717448	C	T	74717448	3	4	357	1	0	0	0	0	1	0	0	0	10413	652	23	1	1307	1	NEU3	11	74717448	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1038032	74717448	60289068	466	67758											
LRRC32	2615	broad.mit.edu	37	chr11	76370753	76370753	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaaggtgaggatgatgatGaggttgatgttcttcagtcc	10	13	14	4	0	2	6	1	6	1	0	3	7	3	7	1	3	0	2	1	3	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:76370753G>C	ENST00000407242.2	-	3	2126	c.1884C>G	c.(1882-1884)ctC>ctG	p.L628L	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.L628L|LRRC32_ENST00000404995.1_Silent_p.L628L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	628						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGATGATGATGAGGTTGATGT	0.582													4	137					0	0	0	0	C	76370753	G	C	76370753	2	2	357	1	0	0	0	0	0	0	0	1	9051	1277	45	2		2	LRRC32	11	76370753	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1653305	76370753	58635763	467	67759											
INTS4	92105	broad.mit.edu	37	chr11	77602820	77602820	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtttggatgtcatgagtcgGggcataaggtcaaggagttt	9	12	16	4	1	2	1	2	1	0	0	3	3	2	3	0	6	0	3	0	6	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:77602820G>T	ENST00000534064.1	-	20	2389	c.2355C>A	c.(2353-2355)ccC>ccA	p.P785P	AAMDC_ENST00000527134.1_Intron|INTS4_ENST00000535943.1_Silent_p.P160P|AAMDC_ENST00000532481.1_Intron|AAMDC_ENST00000304716.8_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	785					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TCATGAGTCGGGGCATAAGGT	0.502													14	62					1.01871e-10	1.06662e-10	1	0	T	77602820	G	T	77602820	2	4	357	1	0	0	0	0	0	0	0	1	7833	1219	43	4		4	INTS4	11	77602820	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1232067	77602820	57403696	468	67760											
CCDC81	60494	broad.mit.edu	37	chr11	86108780	86108780	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagacaaagaagaaggcacCagaggtaggccaatgatttc	16	6	11	8	0	1	5	1	1	0	4	2	5	1	5	2	3	0	2	2	3	5	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:86108780C>T	ENST00000278487.3	+	6	1181	c.102C>T	c.(100-102)acC>acT	p.T34T	CCDC81_ENST00000354755.1_Silent_p.T161T|CCDC81_ENST00000528728.1_Silent_p.T34T|CCDC81_ENST00000445632.2_Silent_p.T251T			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	251										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AAGAAGGCACCAGAGGTAGGC	0.413													6	42					0	0	0	0	T	86108780	C	T	86108780	2	4	357	1	0	0	0	0	0	0	0	1	2882	581	21	4		4	CCDC81	11	86108780	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	8505960	86108780	48897736	469	67761											
CCDC81	60494	broad.mit.edu	37	chr11	86118709	86118709	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagatgaagccccaaacatCtccagcttgccaggatcata	13	8	8	12	0	2	2	1	2	1	1	3	4	2	3	4	1	4	1	4	1	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:86118709C>G	ENST00000278487.3	+	8	1363	c.284C>G	c.(283-285)tCt>tGt	p.S95C	CCDC81_ENST00000354755.1_Missense_Mutation_p.S222C|CCDC81_ENST00000528728.1_Missense_Mutation_p.S95C|CCDC81_ENST00000445632.2_Missense_Mutation_p.S312C			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	312										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CCCCAAACATCTCCAGCTTGC	0.368													3	27					0	0	0	0	G	86118709	C	G	86118709	3	3	357	1	0	0	0	0	1	0	0	0	2882	913	32	2	965	2	CCDC81	11	86118709	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	9929	86118709	48887807	470	67762											
ANKRD49	54851	broad.mit.edu	37	chr11	94231442	94231442	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtaagtggaataataccaGagtggcttctttcttactgc	10	15	9	7	0	2	1	0	0	2	1	2	2	2	2	1	2	3	2	1	2	5	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:94231442G>C	ENST00000544612.1	+	3	961	c.464G>C	c.(463-465)aGa>aCa	p.R155T	ANKRD49_ENST00000302755.4_Missense_Mutation_p.R155T|ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	155					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATAATACCAGAGTGGCTTCT	0.507													9	47					0	0	0	0	C	94231442	G	C	94231442	3	2	357	1	0	0	0	0	1	0	0	0	674	942	33	2	470	2	ANKRD49	11	94231442	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	8112733	94231442	40775074	471	67763											
KBTBD3	143879	broad.mit.edu	37	chr11	105924349	105924349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatatgcagtcgaaccgttCgacaacatttccctttgcaa	12	11	6	12	3	0	0	0	0	0	0	3	2	1	0	2	0	4	3	2	0	5	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:105924349C>T	ENST00000526793.1	-	3	1226	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	KBTBD3_ENST00000531837.1_Missense_Mutation_p.R356Q|KBTBD3_ENST00000534815.1_Missense_Mutation_p.R277Q	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	352										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TCGAACCGTTCGACAACATTT	0.428													7	44					0	0	0	0	T	105924349	C	T	105924349	3	4	357	1	0	0	0	0	1	0	0	0	8047	884	31	1	775	1	KBTBD3	11	105924349	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	11692907	105924349	29082167	472	67764											
DSCAML1	57453	broad.mit.edu	37	chr11	117395727	117395727	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgaggcggtgcagggcagctCcacggtgtggccggcccaca	6	4	17	14	4	0	0	0	0	0	0	1	1	1	0	3	6	2	3	3	6	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:117395727C>G	ENST00000321322.6	-	5	911	c.910G>C	c.(910-912)Gag>Cag	p.E304Q	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	244	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CAGGGCAGCTCCACGGTGTGG	0.687													5	17					0	0	0	0	G	117395727	C	G	117395727	3	3	357	1	0	0	0	0	1	0	0	0	4805	864	30	2	5547	2	DSCAML1	11	117395727	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	11471378	117395727	17610789	473	67765											
CD3E	916	broad.mit.edu	37	chr11	118184489	118184489	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcatagtggacatctgcatCactgggggcttgctgctgct	6	12	13	10	0	3	0	2	0	1	0	3	1	3	1	0	3	4	5	0	3	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:118184489C>T	ENST00000361763.4	+	7	711	c.420C>T	c.(418-420)atC>atT	p.I140I	CD3E_ENST00000528600.1_Silent_p.I134I	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	140					G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	ACATCTGCATCACTGGGGGCT	0.572													19	83					0	0	0	0	T	118184489	C	T	118184489	2	4	357	1	0	0	0	0	0	0	0	1	3040	816	29	2		2	CD3E	11	118184489	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	788762	118184489	16822027	474	67766											
SORL1	6653	broad.mit.edu	37	chr11	121476202	121476202	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaccagataccacgtatCaggttaaagtacaggttcag	15	9	9	8	1	2	2	2	1	0	1	2	2	2	2	2	2	3	4	2	2	6	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:121476202C>T	ENST00000260197.7	+	35	4999	c.4870C>T	c.(4870-4872)Cag>Tag	p.Q1624*	SORL1_ENST00000525532.1_Nonsense_Mutation_p.Q568*|SORL1_ENST00000534286.1_Nonsense_Mutation_p.Q534*|SORL1_ENST00000532694.1_Nonsense_Mutation_p.Q470*|SORL1_ENST00000527934.1_Nonsense_Mutation_p.Q239*	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1624	Fibronectin type-III 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TACCACGTATCAGGTTAAAGT	0.448													42	177					0	0	0	0	T	121476202	C	T	121476202	4	4	357	1	0	0	0	0	0	1	0	0	15022	827	29	2	5008	2	SORL1	11	121476202	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3291713	121476202	13530314	475	67767											
ROBO4	54538	broad.mit.edu	37	chr11	124765072	124765072	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctttagagtcacttcctGaggtggggcactgggcactg	7	10	15	9	0	1	2	1	1	0	1	2	2	2	2	1	5	0	3	1	5	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:124765072G>A	ENST00000306534.3	-	7	1539	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*	ROBO4_ENST00000533054.1_Nonsense_Mutation_p.Q207*	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	352	Fibronectin type-III 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTCACTTCCTGAGGTGGGGCA	0.587													9	45					0	0	0	0	A	124765072	G	A	124765072	4	1	357	1	0	0	0	0	0	1	0	0	13601	1299	45	2	2017	2	ROBO4	11	124765072	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3288870	124765072	10241444	476	67768											
ETS1	2113	broad.mit.edu	37	chr11	128354930	128354930	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agctgggctctgagaactccGatggtggaacacactgggca	10	7	14	10	1	1	1	0	1	1	1	2	4	2	2	1	4	3	3	1	4	2	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:128354930G>C	ENST00000392668.3	-	7	718	c.650C>G	c.(649-651)tCg>tGg	p.S217W	ETS1_ENST00000526145.1_Missense_Mutation_p.S173W|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000319397.5_Missense_Mutation_p.S173W|ETS1_ENST00000345075.4_Missense_Mutation_p.S173W|ETS1_ENST00000531611.1_Missense_Mutation_p.S173W	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	173					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TGAGAACTCCGATGGTGGAAC	0.483													18	171					0	0	0	0	C	128354930	G	C	128354930	3	2	357	1	0	0	0	0	1	0	0	0	5313	1059	37	3	823	3	ETS1	11	128354930	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3589858	128354930	6651586	477	67769											
SPATA19	219938	broad.mit.edu	37	chr11	133714494	133714494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggaagggtggttgatGgacagcttttcctttatgcc	6	13	13	9	0	0	1	0	1	0	0	1	3	1	3	3	4	2	2	3	4	2	5	rs139740763	by1000genomes	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:133714494G>A	ENST00000299140.3	-	3	231	c.177C>T	c.(175-177)tcC>tcT	p.S59S	SPATA19_ENST00000532889.1_Silent_p.S59S	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	59					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GGTGGTTGATGGACAGCTTTT	0.512													10	63					0	0	0	0	A	133714494	G	A	133714494	2	1	357	1	0	0	0	0	0	0	0	1	15094	1335	47	4		4	SPATA19	11	133714494	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	5359564	133714494	1292022	478	67770											
IGSF9B	22997	broad.mit.edu	37	chr11	133788957	133788957	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtttagagagtgctctctCaggcgggctggtcgcgggag	6	9	17	9	3	2	1	1	0	1	1	4	3	2	2	0	4	1	3	0	4	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:133788957C>G	ENST00000321016.8	-	19	4257	c.4027G>C	c.(4027-4029)Gag>Cag	p.E1343Q	IGSF9B_ENST00000533871.2_Intron			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1343						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGTGCTCTCTCAGGCGGGCTG	0.622													4	6					0	0	0	0	G	133788957	C	G	133788957	3	3	357	1	0	0	0	0	1	0	0	0	7659	835	29	2	26	2	IGSF9B	11	133788957	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	74463	133788957	1217559	479	67771											
NCAPD3	23310	broad.mit.edu	37	chr11	134074826	134074826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcagtaagatacggaCgactgggaatatactctcct	11	10	11	9	2	1	1	0	0	1	1	2	4	1	3	1	2	4	3	1	2	5	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:134074826C>T	ENST00000534548.2	-	9	1121	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	353					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAGATACGGACGACTGGGAAT	0.398													13	74					0	0	0	0	T	134074826	C	T	134074826	3	4	357	1	0	0	0	0	1	0	0	0	10276	536	19	1	3547	1	NCAPD3	11	134074826	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	285869	134074826	931690	480	67772											
KDM5A	5927	broad.mit.edu	37	chr12	427289	427289	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgcctgtaggcagacCttagccttttcttcccatcg	6	13	7	15	1	1	1	0	0	1	1	3	1	2	1	5	1	2	2	5	1	2	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:427289C>T	ENST00000399788.2	-	19	3242	c.2880G>A	c.(2878-2880)aaG>aaA	p.K960K	KDM5A_ENST00000382815.4_Silent_p.K960K	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	960					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTAGGCAGACCTTAGCCTTTT	0.473			T	NUP98	AML								21	99					0	0	0	0	T	427289	C	T	427289	2	4	357	1	0	0	0	0	0	0	0	1	8185	680	24	4		4	KDM5A	12	427289	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08		427289	133424606	481	67773											
ITFG2	55846	broad.mit.edu	37	chr12	2922011	2922011	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatctgcctcggagacgttGataacgatacggtaggtgca	11	9	12	9	4	1	2	0	1	1	1	2	4	1	2	1	3	4	3	1	3	4	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:2922011G>C	ENST00000228799.2	+	1	224	c.85G>C	c.(85-87)Gat>Cat	p.D29H	ITFG2_ENST00000419778.2_5'UTR|RP4-816N1.6_ENST00000547834.1_RNA|ITFG2_ENST00000542548.1_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	29										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CGGAGACGTTGATAACGATAC	0.627													23	111					0	0	0	0	C	2922011	G	C	2922011	3	2	357	1	0	0	0	0	1	0	0	0	7923	1290	45	2	87	2	ITFG2	12	2922011	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2494722	2922011	130929884	482	67774											
TULP3	7289	broad.mit.edu	37	chr12	3031505	3031505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcctctgttgtggaagaaGatgctgaaaacaccgtggat	11	10	12	8	1	1	3	0	1	1	2	2	5	2	5	2	2	2	3	2	2	4	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:3031505G>A	ENST00000448120.2	+	4	382	c.331G>A	c.(331-333)Gat>Aat	p.D111N	TULP3_ENST00000397132.2_Missense_Mutation_p.D111N	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	111					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGTGGAAGAAGATGCTGAAAA	0.458													4	97					0	0	0	0	A	3031505	G	A	3031505	3	1	357	1	0	0	0	0	1	0	0	0	16871	942	33	2	345	2	TULP3	12	3031505	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	109494	3031505	130820390	483	67775											
AKAP3	10566	broad.mit.edu	37	chr12	4737714	4737714	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaacttcatctactgaactCccgttgccaagttgggccct	9	11	8	13	1	2	1	1	1	1	0	3	2	3	1	3	1	4	2	3	1	4	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:4737714C>T	ENST00000545990.2	-	5	878	c.354G>A	c.(352-354)ggG>ggA	p.G118G	AKAP3_ENST00000228850.1_Silent_p.G118G	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	118			G -> E (in dbSNP:rs2072355).		acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTACTGAACTCCCGTTGCCAA	0.488													18	70					0	0	0	0	T	4737714	C	T	4737714	2	4	357	1	0	0	0	0	0	0	0	1	452	842	30	2		2	AKAP3	12	4737714	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1706209	4737714	129114181	484	67776											
ZNF384	171017	broad.mit.edu	37	chr12	6787533	6787533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagccagggggaagagctGagacaatcatgggagccgaa	13	4	17	7	1	1	3	1	2	0	2	1	7	1	5	2	3	3	1	2	3	3	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:6787533G>A	ENST00000396795.1	-	5	943	c.446C>T	c.(445-447)tCa>tTa	p.S149L	ZNF384_ENST00000396801.3_Missense_Mutation_p.S149L|ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000319770.3_Missense_Mutation_p.S133L|ZNF384_ENST00000361959.3_Missense_Mutation_p.S149L|ZNF384_ENST00000396799.2_Missense_Mutation_p.S149L			Q8TF68	ZN384_HUMAN	zinc finger protein 384	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGGAAGAGCTGAGACAATCAT	0.577			T	"EWSR1, TAF15 "	ALL								10	25					0	0	0	0	A	6787533	G	A	6787533	3	1	357	1	0	0	0	0	1	0	0	0	17970	1294	45	2	1311	2	ZNF384	12	6787533	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2049819	6787533	127064362	485	67777											
LOH12CR1	118426	broad.mit.edu	37	chr12	12514212	12514212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcagggctcccaggcctCacggaacgtcagcaacgatc	10	5	11	15	3	3	0	3	0	0	0	5	2	4	1	2	3	4	3	2	3	2	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:12514212C>T	ENST00000314565.4	+	2	462	c.131C>T	c.(130-132)tCa>tTa	p.S44L	LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.S25L	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	44										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		TCCCAGGCCTCACGGAACGTC	0.463													30	75					0	0	0	0	T	12514212	C	T	12514212	3	4	357	1	0	0	0	0	1	0	0	0	8955	838	29	2	137	2	LOH12CR1	12	12514212	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	5726679	12514212	121337683	486	67778											
LOH12CR1	118426	broad.mit.edu	37	chr12	12514243	12514243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaacgatcccgatgtcatCaagttgcaagagattccaac	14	8	8	11	2	2	1	2	0	0	1	4	4	4	1	2	0	4	3	2	0	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:12514243C>G	ENST00000314565.4	+	2	493	c.162C>G	c.(160-162)atC>atG	p.I54M	LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.I35M	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	54										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CCGATGTCATCAAGTTGCAAG	0.488													28	70					0	0	0	0	G	12514243	C	G	12514243	3	3	357	1	0	0	0	0	1	0	0	0	8955	816	29	2	168	2	LOH12CR1	12	12514243	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	31	12514243	121337652	487	67779											
PLEKHA5	54477	broad.mit.edu	37	chr12	19436611	19436611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcaacgaacttacagatcgGaagtgtcttcaccaattcag	13	10	7	11	2	4	1	3	0	1	1	5	3	4	2	1	1	3	0	1	1	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:19436611G>C	ENST00000538714.1	+	11	1697	c.1693G>C	c.(1693-1695)Gaa>Caa	p.E565Q	PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E457Q|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E323Q|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E571Q|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E457Q|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E565Q	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	565							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TTACAGATCGGAAGTGTCTTC	0.458													14	44					0	0	0	0	C	19436611	G	C	19436611	3	2	357	1	0	0	0	0	1	0	0	0	12131	1175	41	2	1735	2	PLEKHA5	12	19436611	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6922368	19436611	114415284	488	67780											
BCAT1	586	broad.mit.edu	37	chr12	24995142	24995142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttcacattgggcaaaaaGagatgagccgtaattccttt	12	12	9	8	1	1	2	1	1	0	1	2	3	2	2	2	1	2	3	2	1	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:24995142G>A	ENST00000261192.7	-	7	1217	c.691C>T	c.(691-693)Ctt>Ttt	p.L231F	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Missense_Mutation_p.L230F|BCAT1_ENST00000539282.1_Missense_Mutation_p.L243F|BCAT1_ENST00000342945.5_Missense_Mutation_p.L170F|BCAT1_ENST00000539780.1_Missense_Mutation_p.L194F	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	231					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TGGGCAAAAAGAGATGAGCCG	0.438													7	42					0	0	0	0	A	24995142	G	A	24995142	3	1	357	1	0	0	0	0	1	0	0	0	1358	942	33	2	489	2	BCAT1	12	24995142	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	5558531	24995142	108856753	489	67781											
ITPR2	3709	broad.mit.edu	37	chr12	26818867	26818867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccagtatgttttgttccctCatcaatttttgacgctctcg	6	17	7	11	2	3	1	2	1	1	0	5	1	4	1	2	0	0	4	2	0	2	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:26818867C>T	ENST00000381340.3	-	14	1943	c.1527G>A	c.(1525-1527)atG>atA	p.M509I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	509	Inositol-1,4,5-triphosphate binding (By similarity).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTTGTTCCCTCATCAATTTTT	0.348													11	46					0	0	0	0	T	26818867	C	T	26818867	3	4	357	1	0	0	0	0	1	0	0	0	7974	826	29	2	6754	2	ITPR2	12	26818867	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1823725	26818867	107033028	490	67782											
ZCRB1	85437	broad.mit.edu	37	chr12	42707719	42707719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcttttttttctttttttCtttcttctttggaggctcac	2	27	4	8	0	6	0	1	0	5	0	6	1	6	1	0	2	0	1	0	2	0	11			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:42707719C>G	ENST00000266529.3	-	6	586	c.403G>C	c.(403-405)Gaa>Caa	p.E135Q	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.E94Q	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	135	Poly-Lys.				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TTCTTTTTTTCTTTCTTCTTT	0.338													5	30					0	0	0	0	G	42707719	C	G	42707719	3	3	357	1	0	0	0	0	1	0	0	0	17691	922	32	2	262	2	ZCRB1	12	42707719	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	15888852	42707719	91144176	491	67783											
FMNL3	91010	broad.mit.edu	37	chr12	50059692	50059692	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaccctcctcctgaacttCtgtaaaaagggtaggaaagg	12	9	10	10	0	1	1	0	1	1	0	3	2	3	2	3	3	2	3	3	3	6	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:50059692C>G	ENST00000335154.5	-	4	525		c.e4-1		FMNL3_ENST00000352151.5_Splice_Site|FMNL3_ENST00000293590.5_Splice_Site|FMNL3_ENST00000550488.1_Splice_Site	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3						actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCCTGAACTTCTGTAAAAAGG	0.512													33	116					0	0	0	0	G	50059692	C	G	50059692	5	3	357	1	0	0	0	0	0	0	1	0	5998	927	32	2	2884	2	FMNL3	12	50059692	Splice_Site	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	7351973	50059692	83792203	492	67784											
SP1	6667	broad.mit.edu	37	chr12	53777156	53777156	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagaacctccaagttcaGaacccacaagcccaaacaat	16	5	5	15	0	1	2	1	0	0	2	2	2	2	2	4	0	5	2	4	0	6	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:53777156G>A	ENST00000426431.2	+	3	1464	c.1404G>A	c.(1402-1404)caG>caA	p.Q468Q	SP1_ENST00000327443.4_Silent_p.Q475Q	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	475	Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TCCAAGTTCAGAACCCACAAG	0.552													23	140					0	0	0	0	A	53777156	G	A	53777156	2	1	357	1	0	0	0	0	0	0	0	1	15047	933	33	2		2	SP1	12	53777156	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3717464	53777156	80074739	493	67785											
BAZ2A	11176	broad.mit.edu	37	chr12	56994038	56994038	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtgctaagcagggccttCtccagcacaacctcatgagt	9	9	11	12	0	2	1	1	1	1	0	3	1	2	1	3	2	4	3	3	2	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:56994038C>T	ENST00000179765.5	-	25	4948	c.4749G>A	c.(4747-4749)gaG>gaA	p.E1583E	BAZ2A_ENST00000551812.1_Silent_p.E1615E|BAZ2A_ENST00000549884.1_Silent_p.E1613E|BAZ2A_ENST00000379441.3_Silent_p.E1585E			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1615					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCAGGGCCTTCTCCAGCACAA	0.577													6	21					0	0	0	0	T	56994038	C	T	56994038	2	4	357	1	0	0	0	0	0	0	0	1	1335	912	32	2		2	BAZ2A	12	56994038	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3216882	56994038	76857857	494	67786											
LRP1	4035	broad.mit.edu	37	chr12	57537482	57537482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agctccaaggcaactgctctCgcctgggctgccagcaccat	8	7	10	16	1	1	0	0	0	1	0	3	0	2	0	4	2	5	5	4	2	2	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:57537482C>G	ENST00000243077.3	+	4	815	c.349C>G	c.(349-351)Cgc>Ggc	p.R117G	LRP1_ENST00000553277.1_Missense_Mutation_p.R117G|LRP1_ENST00000554174.1_Missense_Mutation_p.R117G|LRP1_ENST00000338962.4_Missense_Mutation_p.R117G	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	117	EGF-like 1.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAACTGCTCTCGCCTGGGCTG	0.602													12	87					0	0	0	0	G	57537482	C	G	57537482	3	3	357	1	0	0	0	0	1	0	0	0	9015	884	31	3	363	3	LRP1	12	57537482	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	543444	57537482	76314413	495	67787											
SRGAP1	57522	broad.mit.edu	37	chr12	64436735	64436735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagctctgtaaagaaaattGaaaaaatgaaagaaaaagta	24	7	8	2	0	1	4	0	2	1	2	1	5	1	4	0	0	1	3	0	0	12	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:64436735G>A	ENST00000355086.3	+	5	1179	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	SRGAP1_ENST00000357825.3_Missense_Mutation_p.E219K|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.E179K	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	219					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAAGAAAATTGAAAAAATGAA	0.388													7	33					0	0	0	0	A	64436735	G	A	64436735	3	1	357	1	0	0	0	0	1	0	0	0	15235	1291	45	2	673	2	SRGAP1	12	64436735	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6899253	64436735	69415160	496	67788											
WIF1	11197	broad.mit.edu	37	chr12	65471538	65471538	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacccacctgatgccttgtGaggcactgttcccagcagag	8	8	10	15	0	0	3	0	2	0	1	1	3	1	3	5	1	2	3	5	1	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:65471538G>C	ENST00000286574.4	-	3	759	c.385C>G	c.(385-387)Cac>Gac	p.H129D		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	129	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GATGCCTTGTGAGGCACTGTT	0.443			T	HMGA2	pleomorphic salivary gland adenoma								4	29					0	0	0	0	C	65471538	G	C	65471538	3	2	357	1	0	0	0	0	1	0	0	0	17462	1290	45	2	786	2	WIF1	12	65471538	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1034803	65471538	68380357	497	67789											
BEST3	144453	broad.mit.edu	37	chr12	70087539	70087539	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagcagggaggtgagattGacgtagcgcatcagcgtcct	10	8	15	8	3	1	3	1	3	0	1	2	5	2	4	1	2	3	3	1	2	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:70087539G>A	ENST00000330891.5	-	4	622	c.396C>T	c.(394-396)gtC>gtT	p.V132V	BEST3_ENST00000331471.4_Silent_p.V132V|BEST3_ENST00000551160.1_Silent_p.V26V|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000393365.1_Silent_p.V26V|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000266661.4_Silent_p.V26V|BEST3_ENST00000553096.1_Silent_p.V26V	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	132						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGTGAGATTGACGTAGCGCA	0.532													15	81					0	0	0	0	A	70087539	G	A	70087539	2	1	357	1	0	0	0	0	0	0	0	1	1410	1277	45	2		2	BEST3	12	70087539	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4616001	70087539	63764356	498	67790											
ALX1	8092	broad.mit.edu	37	chr12	85677393	85677393	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacagccccttcacacCgaactgaatagagctatgga	14	6	10	11	1	1	2	1	1	0	1	1	6	1	4	3	2	3	1	3	2	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:85677393C>G	ENST00000316824.3	+	2	425	c.270C>G	c.(268-270)acC>acG	p.T90T		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	90					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCCTTCACACCGAACTGAATA	0.453													15	58					0	0	0	0	G	85677393	C	G	85677393	2	3	357	1	0	0	0	0	0	0	0	1	556	639	23	3		3	ALX1	12	85677393	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	15589854	85677393	48174502	499	67791											
CEP290	80184	broad.mit.edu	37	chr12	88483083	88483083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcttccctccaaacgaGcataatagagagcctgttct	10	13	7	11	1	2	1	0	0	2	1	4	3	4	1	3	0	3	3	3	0	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:88483083G>A	ENST00000552810.1	-	31	4098	c.3755C>T	c.(3754-3756)gCt>gTt	p.A1252V	CEP290_ENST00000547691.2_Missense_Mutation_p.A312V|CEP290_ENST00000309041.7_Missense_Mutation_p.A1254V|CEP290_ENST00000397838.3_Missense_Mutation_p.A312V	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1252					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTCCAAACGAGCATAATAGAG	0.438													6	27					0	0	0	0	A	88483083	G	A	88483083	3	1	357	1	0	0	0	0	1	0	0	0	3282	971	34	4	3780	4	CEP290	12	88483083	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2805690	88483083	45368812	500	67792											
PLXNC1	10154	broad.mit.edu	37	chr12	94603376	94603376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttttttaggtgcacttttCaaggagattgtgtacattca	9	18	9	5	0	2	1	2	0	0	1	2	2	2	1	0	2	2	3	0	2	3	9			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:94603376C>G	ENST00000258526.4	+	5	1699	c.1450C>G	c.(1450-1452)Caa>Gaa	p.Q484E		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	484					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTGCACTTTTCAAGGAGATTG	0.383													32	146					0	0	0	0	G	94603376	C	G	94603376	3	3	357	1	0	0	0	0	1	0	0	0	12198	827	29	2	1468	2	PLXNC1	12	94603376	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	6120293	94603376	39248519	501	67793											
METAP2	10988	broad.mit.edu	37	chr12	95887860	95887860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcttggagaactacaagtGaagaaaagaaagcattagat	18	8	10	5	0	0	5	0	1	0	4	0	6	0	5	0	1	4	2	0	1	8	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:95887860G>A	ENST00000323666.5	+	5	686	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	METAP2_ENST00000261220.9_Missense_Mutation_p.E130K|METAP2_ENST00000550777.1_Missense_Mutation_p.E117K|METAP2_ENST00000551840.1_Missense_Mutation_p.E152K|METAP2_ENST00000546753.1_Missense_Mutation_p.E130K	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	153					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AACTACAAGTGAAGAAAAGAA	0.383													13	56					0	0	0	0	A	95887860	G	A	95887860	3	1	357	1	0	0	0	0	1	0	0	0	9556	1291	45	2	475	2	METAP2	12	95887860	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1284484	95887860	37964035	502	67794											
UTP20	27340	broad.mit.edu	37	chr12	101776993	101776993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagagaaggaagaggtgaagGaagagctcggcaggccggcc	14	2	18	7	2	0	4	0	1	0	3	1	7	0	6	2	6	1	2	2	6	5	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:101776993G>A	ENST00000261637.4	+	59	8005	c.7831G>A	c.(7831-7833)Gaa>Aaa	p.E2611K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2611					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGAGGTGAAGGAAGAGCTCGG	0.522													7	42					0	0	0	0	A	101776993	G	A	101776993	3	1	357	1	0	0	0	0	1	0	0	0	17195	1175	41	2	8065	2	UTP20	12	101776993	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	5889133	101776993	32074902	503	67795											
STAB2	55576	broad.mit.edu	37	chr12	104031885	104031885	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgtacatgccaagaaggCtaccgtggggatggccaagt	11	8	14	8	1	0	1	0	0	0	1	0	2	0	2	3	4	3	3	3	4	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:104031885C>G	ENST00000388887.2	+	8	1005	c.801C>G	c.(799-801)ggC>ggG	p.G267G		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	267	EGF-like 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCCAAGAAGGCTACCGTGGGG	0.498													9	97					0	0	0	0	G	104031885	C	G	104031885	2	3	357	1	0	0	0	0	0	0	0	1	15328	784	28	4		4	STAB2	12	104031885	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2254892	104031885	29820010	504	67796											
ALDH1L2	160428	broad.mit.edu	37	chr12	105445900	105445900	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcctctttctcttgcattCattcttccccattcaccgtt	4	19	2	16	1	5	0	2	0	3	0	8	0	7	0	4	0	1	2	4	0	0	8			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:105445900C>G	ENST00000258494.9	-	12	1643	c.1503G>C	c.(1501-1503)atG>atC	p.M501I	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.M501I	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	501	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTCTTGCATTCATTCTTCCCC	0.353													21	47					0	0	0	0	G	105445900	C	G	105445900	3	3	357	1	0	0	0	0	1	0	0	0	495	826	29	2	1316	2	ALDH1L2	12	105445900	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1414015	105445900	28405995	505	67797											
KIAA1033	23325	broad.mit.edu	37	chr12	105509444	105509444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgccttttacagctacaGatgccagcatggtggaaggt	9	12	12	8	0	0	1	0	0	0	1	0	2	0	2	2	3	6	3	2	3	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:105509444G>A	ENST00000332180.5	+	6	460	c.373G>A	c.(373-375)Gat>Aat	p.D125N		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	125					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TACAGCTACAGATGCCAGCAT	0.313													32	84					0	0	0	0	A	105509444	G	A	105509444	3	1	357	1	0	0	0	0	1	0	0	0	8257	942	33	2	395	2	KIAA1033	12	105509444	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	63544	105509444	28342451	506	67798											
UNG	7374	broad.mit.edu	37	chr12	109536374	109536375	+	Frame_Shift_Ins	INS	-	-	C																															gactcgcggcccgcaacgtgINScccgtgggctttggagagag																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:109536374_109536375insC	ENST00000336865.2	+	1	452_453	c.243_244insC	c.(241-246)gtccgtfs	p.R82fs	UNG_ENST00000242576.2_Frame_Shift_Ins_p.R91fs	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	91					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CCCGCAACGTGCCCGTGGGCTT	0.604								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				15	153	---	---	---	---					C	109536375	-	C	109536374	7	5	357	1	0	1	1	0	0	0	0	0	17095	1306	46	0	381	0	UNG	12	109536374	Frame_Shift_Ins	INS	-	TCGA-CV-A6K2-01A-11D-A31L-08	4026930	109536374	24315521	507	67799											
ACAD10	80724	broad.mit.edu	37	chr12	112159481	112159481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgtccttgcaggattatGaaagcccttgcaaatgctgg	10	13	10	8	0	0	1	0	1	0	0	1	2	1	2	2	2	4	3	2	2	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:112159481G>A	ENST00000455480.2	+	9	1269	c.1092G>A	c.(1090-1092)atG>atA	p.M364I	ACAD10_ENST00000313698.4_Missense_Mutation_p.M333I|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.M333I	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	333							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCAGGATTATGAAAGCCCTTG	0.348													11	39					0	0	0	0	A	112159481	G	A	112159481	3	1	357	1	0	0	0	0	1	0	0	0	108	1290	45	2	1122	2	ACAD10	12	112159481	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2623107	112159481	21692414	508	67800											
ERP29	10961	broad.mit.edu	37	chr12	112460445	112460445	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagggggccgagaaaGaggagctgtaaaaaggctgt	16	4	17	4	1	0	4	0	0	0	4	0	6	0	5	1	4	1	3	1	4	6	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:112460445G>T	ENST00000261735.3	+	3	925	c.775G>T	c.(775-777)Gag>Tag	p.E259*	ERP29_ENST00000455836.1_3'UTR|ERP29_ENST00000546477.1_Nonsense_Mutation_p.E158*	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	259					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GGCCGAGAAAGAGGAGCTGTA	0.517													19	138					6.49762e-13	6.84152e-13	1	0	T	112460445	G	T	112460445	4	4	357	1	0	0	0	0	0	1	0	0	5280	943	33	2	785	2	ERP29	12	112460445	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	300964	112460445	21391450	509	67801											
FBXW8	26259	broad.mit.edu	37	chr12	117387508	117387509	+	Frame_Shift_Ins	INS	-	-	G																															cacgatggtgtggtcattgcINSggggtaagccaaaccgtttc																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:117387508_117387509insG	ENST00000455858.2	+	4	549_550	c.476_477insG	c.(475-477)gggfs	p.G159fs	FBXW8_ENST00000309909.5_Frame_Shift_Ins_p.G225fs	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	225	F-box.						protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GTGGTCATTGCGGGGTAAGCCA	0.495													29	82	---	---	---	---					G	117387509	-	G	117387508	7	5	357	1	0	1	1	0	0	0	0	0	5815	768	27	0	688	0	FBXW8	12	117387508	Frame_Shift_Ins	INS	-	TCGA-CV-A6K2-01A-11D-A31L-08	4927063	117387508	16464387	510	67802											
FBXW8	26259	broad.mit.edu	37	chr12	117402570	117402570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtagcccccttcctggaatCagaggacgaggaggatgagc	10	6	14	11	2	1	2	1	1	0	1	2	7	2	6	3	4	2	1	3	4	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:117402570C>T	ENST00000455858.2	+	5	621	c.548C>T	c.(547-549)tCa>tTa	p.S183L	FBXW8_ENST00000309909.5_Missense_Mutation_p.S249L	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	249							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TTCCTGGAATCAGAGGACGAG	0.512													30	136					0	0	0	0	T	117402570	C	T	117402570	3	4	357	1	0	0	0	0	1	0	0	0	5815	838	29	2	764	2	FBXW8	12	117402570	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	15062	117402570	16449325	511	67803											
SRRM4	84530	broad.mit.edu	37	chr12	119594311	119594311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcagtgcccggaaacGccccatcccctactatcggc	7	8	8	18	3	1	0	0	0	1	0	4	1	2	1	5	2	4	1	5	2	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:119594311G>A	ENST00000267260.4	+	13	1932	c.1544G>A	c.(1543-1545)cGc>cAc	p.R515H		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	515	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCCCGGAAACGCCCCATCCCC	0.672													8	32					0	0	0	0	A	119594311	G	A	119594311	3	1	357	1	0	0	0	0	1	0	0	0	15261	1087	38	1	1594	1	SRRM4	12	119594311	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2191741	119594311	14257584	512	67804											
GCN1L1	10985	broad.mit.edu	37	chr12	120597714	120597714	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagcagccaggggagacttCagcaagggcagaaaagagtc	14	3	16	8	0	1	3	1	0	0	3	2	5	1	4	1	4	3	3	1	4	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:120597714C>T	ENST00000300648.6	-	24	2676	c.2664G>A	c.(2662-2664)ctG>ctA	p.L888L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	888					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGAGACTTCAGCAAGGGCA	0.572													15	86					0	0	0	0	T	120597714	C	T	120597714	2	4	357	1	0	0	0	0	0	0	0	1	6348	813	29	2		2	GCN1L1	12	120597714	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1003403	120597714	13254181	513	67805											
LRRC43	254050	broad.mit.edu	37	chr12	122685313	122685313	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtggaaggtgctgaagaaGaagaaagagccgcccaagga	16	3	16	6	1	0	5	0	1	0	4	0	8	0	7	2	3	2	1	2	3	6	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:122685313G>C	ENST00000339777.4	+	10	1669	c.1641G>C	c.(1639-1641)aaG>aaC	p.K547N	LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.K362N	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	547	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGCTGAAGAAGAAGAAAGAGC	0.687													11	46					0	0	0	0	C	122685313	G	C	122685313	3	2	357	1	0	0	0	0	1	0	0	0	9065	933	33	2	1679	2	LRRC43	12	122685313	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2087599	122685313	11166582	514	67806											
SNRNP35	11066	broad.mit.edu	37	chr12	123950359	123950359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacttggtcacaggtttttCaaagggctacgccttcatcg	8	12	11	10	2	3	0	3	0	0	0	4	1	3	1	1	4	1	2	1	4	2	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:123950359C>T	ENST00000526639.2	+	2	851	c.272C>T	c.(271-273)tCa>tTa	p.S91L	SNRNP35_ENST00000412157.2_Missense_Mutation_p.S96L|SNRNP35_ENST00000350887.5_Missense_Mutation_p.S91L|SNRNP35_ENST00000527158.2_Intron	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	91	RRM.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						ACAGGTTTTTCAAAGGGCTAC	0.498													17	66					0	0	0	0	T	123950359	C	T	123950359	3	4	357	1	0	0	0	0	1	0	0	0	14943	838	29	2	293	2	SNRNP35	12	123950359	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1265046	123950359	9901536	515	67807											
EIF2B1	1967	broad.mit.edu	37	chr12	124106419	124106419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgacccacggatgctcctCtttgaggtcttgtccagtct	5	13	10	13	2	3	1	0	1	3	0	6	3	5	2	3	2	1	1	3	2	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:124106419C>G	ENST00000424014.2	-	9	1010	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	268					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GGATGCTCCTCTTTGAGGTCT	0.517													7	21					0	0	0	0	G	124106419	C	G	124106419	3	3	357	1	0	0	0	0	1	0	0	0	5036	922	32	2	119	2	EIF2B1	12	124106419	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	156060	124106419	9745476	516	67808											
ATP12A	479	broad.mit.edu	37	chr13	25274966	25274966	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgctatgaactttccgacctCcaacctctgttttgtgggac	7	13	8	13	2	1	1	0	1	1	0	3	3	3	2	4	1	2	2	4	1	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:25274966C>G	ENST00000218548.6	+	13	2138	c.1805C>G	c.(1804-1806)tCc>tGc	p.S602C	ATP12A_ENST00000381946.3_Missense_Mutation_p.S596C	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	596					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTTCCGACCTCCAACCTCTGT	0.493													21	62					0	0	0	0	G	25274966	C	G	25274966	3	3	357	1	0	0	0	0	1	0	0	0	1126	855	30	2	1855	2	ATP12A	13	25274966	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08		25274966	89894912	517	67809											
GPR12	2835	broad.mit.edu	37	chr13	27333650	27333650	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggcttctgactgaagcagGtaggcaaaaacaaaattggt	14	9	12	6	0	1	2	0	2	1	0	1	2	1	2	0	4	2	4	0	4	6	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:27333650G>C	ENST00000405846.3	-	2	536	c.315C>G	c.(313-315)taC>taG	p.Y105*	GPR12_ENST00000381436.2_Nonsense_Mutation_p.Y105*	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	105						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		ACTGAAGCAGGTAGGCAAAAA	0.557													17	89					0	0	0	0	C	27333650	G	C	27333650	4	2	357	1	0	0	0	0	0	1	0	0	6684	1256	44	4	693	4	GPR12	13	27333650	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2058684	27333650	87836228	518	67810											
PDX1	3651	broad.mit.edu	37	chr13	28494641	28494641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcctttcccatggatGaagtctaccaaagctcacgc	10	9	8	14	1	2	1	1	1	1	0	3	2	3	2	3	1	4	2	3	1	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:28494641G>T	ENST00000381033.4	+	1	485	c.366G>T	c.(364-366)atG>atT	p.M122I	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	122					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		TCCCATGGATGAAGTCTACCA	0.682													5	12					0.014758	0.0148854	1	0	T	28494641	G	T	28494641	3	4	357	1	0	0	0	0	1	0	0	0	11766	1290	45	2	368	2	PDX1	13	28494641	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1160991	28494641	86675237	519	67811											
CDX2	1045	broad.mit.edu	37	chr13	28539078	28539078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgatgtagcgactgtagtGaaactccttctccagctcca	9	11	10	11	1	1	2	0	2	1	0	4	3	3	2	3	1	3	3	3	1	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:28539078G>A	ENST00000381020.7	-	2	2748	c.616C>T	c.(616-618)Cac>Tac	p.H206Y	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	206					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		CGACTGTAGTGAAACTCCTTC	0.602			T	ETV6	AML								8	28					0	0	0	0	A	28539078	G	A	28539078	3	1	357	1	0	0	0	0	1	0	0	0	3212	1290	45	2	333	2	CDX2	13	28539078	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	44437	28539078	86630800	520	67812											
FRY	10129	broad.mit.edu	37	chr13	32653152	32653152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgaacgcaagattcgtatCattatggcagagcccctggt	10	10	11	10	2	1	3	1	1	0	2	2	3	1	3	2	2	2	4	2	2	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:32653152C>G	ENST00000380250.3	+	2	748	c.252C>G	c.(250-252)atC>atG	p.I84M		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGATTCGTATCATTATGGCAG	0.408													47	146					0	0	0	0	G	32653152	C	G	32653152	3	3	357	1	0	0	0	0	1	0	0	0	6111	816	29	2	258	2	FRY	13	32653152	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	4114074	32653152	82516726	521	67813											
NUFIP1	26747	broad.mit.edu	37	chr13	45563316	45563316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggggttgcgccccgggaaGaatctgggcgtcgaaggggg	6	5	22	8	4	1	1	0	0	1	1	2	3	1	2	2	7	1	1	2	7	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:45563316G>A	ENST00000379161.4	-	1	302	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	86	Pro-rich.				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GCCCCGGGAAGAATCTGGGCG	0.657													8	24					0	0	0	0	A	45563316	G	A	45563316	3	1	357	1	0	0	0	0	1	0	0	0	10819	942	33	2	1271	2	NUFIP1	13	45563316	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	12910164	45563316	69606562	522	67814											
ATP7B	540	broad.mit.edu	37	chr13	52509015	52509015	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggacagcgacacctggctGacatagctgacctggtccca	10	6	12	13	1	0	2	0	2	0	0	1	5	1	3	3	3	2	2	3	3	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:52509015G>A	ENST00000242839.4	-	21	4431	c.4275C>T	c.(4273-4275)gtC>gtT	p.V1425V	ATP7B_ENST00000418097.2_Silent_p.V1360V|ATP7B_ENST00000400370.3_Silent_p.V995V|ATP7B_ENST00000400366.3_Silent_p.V1314V|ATP7B_ENST00000344297.5_Silent_p.V1218V|ATP7B_ENST00000417240.2_Silent_p.V636V|ATP7B_ENST00000448424.2_Silent_p.V1347V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1425					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACACCTGGCTGACATAGCTGA	0.617									Wilson disease				24	107					0	0	0	0	A	52509015	G	A	52509015	2	1	357	1	0	0	0	0	0	0	0	1	1195	1277	45	2		2	ATP7B	13	52509015	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6945699	52509015	62660863	523	67815											
VPS36	51028	broad.mit.edu	37	chr13	53001179	53001179	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttattagcaattgattttGataattccaccatttcctta	11	20	3	7	0	0	2	0	2	0	0	2	2	2	2	3	0	1	1	3	0	5	10			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:53001179G>C	ENST00000378060.4	-	8	611	c.584C>G	c.(583-585)tCa>tGa	p.S195*		NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	195					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AATTGATTTTGATAATTCCAC	0.299													8	25					0	0	0	0	C	53001179	G	C	53001179	4	2	357	1	0	0	0	0	0	1	0	0	17300	1294	45	2	604	2	VPS36	13	53001179	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	492164	53001179	62168699	524	67816											
TDRD3	81550	broad.mit.edu	37	chr13	61084791	61084791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaggcagggggcgaataaGatctgaagatgaagaggacc	17	4	15	5	1	1	5	0	2	1	3	1	7	1	6	1	4	0	1	1	4	6	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:61084791G>A	ENST00000196169.3	+	10	1552	c.764G>A	c.(763-765)aGa>aAa	p.R255K	TDRD3_ENST00000377881.2_Missense_Mutation_p.R255K|TDRD3_ENST00000377894.2_Missense_Mutation_p.R255K|TDRD3_ENST00000535286.1_Missense_Mutation_p.R348K	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	255					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.R255I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GGGCGAATAAGATCTGAAGAT	0.368													18	53					0	0	0	0	A	61084791	G	A	61084791	3	1	357	1	0	0	0	0	1	0	0	0	15826	942	33	2	1081	2	TDRD3	13	61084791	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	8083612	61084791	54085087	525	67817											
PCDH20	64881	broad.mit.edu	37	chr13	61987714	61987714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcaaaagacaagagtcaGaaggagaggaggagatggaa	19	2	16	4	0	1	5	1	0	0	5	1	9	1	7	0	4	1	2	0	4	5	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:61987714G>A	ENST00000409186.1	-	5	2623	c.518C>T	c.(517-519)tCt>tTt	p.S173F	PCDH20_ENST00000409204.4_Missense_Mutation_p.S173F			Q8N6Y1	PCD20_HUMAN	protocadherin 20	146	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACAAGAGTCAGAAGGAGAGGA	0.547													13	64					0	0	0	0	A	61987714	G	A	61987714	3	1	357	1	0	0	0	0	1	0	0	0	11586	942	33	2	2341	2	PCDH20	13	61987714	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	902923	61987714	53182164	526	67818											
COL4A1	1282	broad.mit.edu	37	chr13	110815841	110815841	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggtcccatctctcctttCtggccaggggcaccgtcaaa	7	9	10	15	1	3	0	1	0	2	0	6	0	5	0	4	4	0	2	4	4	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:110815841C>T	ENST00000375820.4	-	47	4339	c.4218G>A	c.(4216-4218)caG>caA	p.Q1406Q		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1406	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCTCTCCTTTCTGGCCAGGGG	0.512													6	27					0	0	0	0	T	110815841	C	T	110815841	2	4	357	1	0	0	0	0	0	0	0	1	3719	912	32	2		2	COL4A1	13	110815841	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	48828127	110815841	4354037	527	67819											
TUBGCP3	10426	broad.mit.edu	37	chr13	113213691	113213691	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagcaagaggtagagtattGaccatttatttttcaaaact	14	14	7	6	0	2	3	2	1	0	2	2	3	2	3	1	1	2	3	1	1	6	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:113213691G>C	ENST00000261965.3	-	4	461	c.275C>G	c.(274-276)tCa>tGa	p.S92*	TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.S92*	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	92					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GTAGAGTATTGACCATTTATT	0.438													6	44					0	0	0	0	C	113213691	G	C	113213691	4	2	357	1	0	0	0	0	0	1	0	0	16863	1294	45	2	2524	2	TUBGCP3	13	113213691	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2397850	113213691	1956187	528	67820											
OR11H12	440153	broad.mit.edu	37	chr14	19378043	19378043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttgctctatcctaatatCatgactgggcatctctgtgc	7	14	7	13	0	3	1	1	1	2	0	5	1	4	1	2	1	2	2	2	1	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:19378043C>T	ENST00000550708.1	+	1	522	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTAATATCATGACTGGGC	0.458													34	208					0	0	0	0	T	19378043	C	T	19378043	2	4	357	1	0	0	0	0	0	0	0	1	10998	816	29	2		2	OR11H12	14	19378043	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08		19378043	87971497	529	67821											
TOX4	9878	broad.mit.edu	37	chr14	21960908	21960908	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaacaaatgttgccctcttCtattactatgtctcaaggag	12	13	6	10	0	3	0	1	0	3	0	4	1	3	1	1	1	3	1	1	1	6	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:21960908C>G	ENST00000405508.1	+	8	1409	c.1133C>G	c.(1132-1134)tCt>tGt	p.S378C	TOX4_ENST00000448790.2_Missense_Mutation_p.S355C|TOX4_ENST00000262709.3_Missense_Mutation_p.S378C			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	378						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TTGCCCTCTTCTATTACTATG	0.498													30	100					0	0	0	0	G	21960908	C	G	21960908	3	3	357	1	0	0	0	0	1	0	0	0	16475	913	32	2	1159	2	TOX4	14	21960908	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2582865	21960908	85388632	530	67822											
MYH7	4625	broad.mit.edu	37	chr14	23886113	23886113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgactgcagctccatcttCtcggcctccagctgctttcg	4	12	9	16	2	2	1	0	1	2	0	6	1	4	1	3	1	4	5	3	1	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:23886113C>T	ENST00000355349.3	-	33	4770	c.4608G>A	c.(4606-4608)gaG>gaA	p.E1536E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1536					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		GCTCCATCTTCTCGGCCTCCA	0.597													20	80					0	0	0	0	T	23886113	C	T	23886113	2	4	357	1	0	0	0	0	0	0	0	1	10109	912	32	2		2	MYH7	14	23886113	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1925205	23886113	83463427	531	67823											
CLEC14A	161198	broad.mit.edu	37	chr14	38724042	38724042	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatgaagaccacggcagAggaggagtcgaaagcctgag	16	4	14	7	2	0	4	0	2	0	2	1	7	0	6	2	3	1	1	2	3	4	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:38724042A>C	ENST00000342213.2	-	1	1532	c.1186T>G	c.(1186-1188)Tct>Gct	p.S396A		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	396						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACCACGGCAGAGGAGGAGTCG	0.507													7	32					0	0	0	0	C	38724042	A	C	38724042	3	2	357	1	0	0	0	0	1	0	0	0	3529	304	11	5	290	5	CLEC14A	14	38724042	Missense_Mutation	SNP	A	TCGA-CV-A6K2-01A-11D-A31L-08	14837929	38724042	68625498	532	67824											
PRPF39	55015	broad.mit.edu	37	chr14	45564603	45564603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcccaatgtgaatgcatCtacagaagaaactgaaatgg	15	9	8	9	0	2	4	0	2	2	2	3	4	2	4	1	1	3	1	1	1	6	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:45564603C>G	ENST00000355765.6	+	2	331	c.161C>G	c.(160-162)tCt>tGt	p.S54C		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	54					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GTGAATGCATCTACAGAAGAA	0.408													17	64					0	0	0	0	G	45564603	C	G	45564603	3	3	357	1	0	0	0	0	1	0	0	0	12649	913	32	2	163	2	PRPF39	14	45564603	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	6840561	45564603	61784937	533	67825											
MGAT2	4247	broad.mit.edu	37	chr14	50088129	50088129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggacgccgaacccgcgcGgggtgccggcggccgcggtg	3	3	20	15	9	0	0	0	0	0	0	0	2	0	1	4	6	2	1	4	6	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:50088129G>A	ENST00000305386.2	+	1	641	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	48					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GAACCCGCGCGGGGTGCCGGC	0.726													6	19					0	0	0	0	A	50088129	G	A	50088129	3	1	357	1	0	0	0	0	1	0	0	0	9612	1116	39	1	145	1	MGAT2	14	50088129	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4523526	50088129	57261411	534	67826											
ERO1L	30001	broad.mit.edu	37	chr14	53138357	53138357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatattataccatcagcttCacagaagttatctgaagaat	17	12	5	7	0	3	3	2	1	1	2	3	3	3	3	1	0	2	2	1	0	8	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:53138357C>T	ENST00000395686.3	-	6	722	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	167					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					CCATCAGCTTCACAGAAGTTA	0.294													5	21					0	0	0	0	T	53138357	C	T	53138357	3	4	357	1	0	0	0	0	1	0	0	0	5277	835	29	2	951	2	ERO1L	14	53138357	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3050228	53138357	54211183	535	67827											
OTX2	5015	broad.mit.edu	37	chr14	57268852	57268852	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagggatctgacagtggggaGatggaagctgggctccagat	11	7	17	6	0	1	3	0	1	1	2	2	6	2	5	1	5	1	2	1	5	2	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:57268852G>C	ENST00000339475.5	-	5	771	c.495C>G	c.(493-495)atC>atG	p.I165M	OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.I157M|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.I157M	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	157					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACAGTGGGGAGATGGAAGCTG	0.542													13	37					0	0	0	0	C	57268852	G	C	57268852	3	2	357	1	0	0	0	0	1	0	0	0	11392	932	33	2	402	2	OTX2	14	57268852	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4130495	57268852	50080688	536	67828											
SIX4	51804	broad.mit.edu	37	chr14	61187080	61187080	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaggttggtgatgccatcaGatgaactggagagtgggtga	10	10	17	4	0	1	6	1	4	0	2	1	7	1	6	1	4	2	1	1	4	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:61187080G>C	ENST00000216513.4	-	2	1006	c.947C>G	c.(946-948)tCt>tGt	p.S316C		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	316						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GATGCCATCAGATGAACTGGA	0.458													25	86					0	0	0	0	C	61187080	G	C	61187080	3	2	357	1	0	0	0	0	1	0	0	0	14437	942	33	2	1406	2	SIX4	14	61187080	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3918228	61187080	46162460	537	67829											
SYNE2	23224	broad.mit.edu	37	chr14	64608224	64608224	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taactcaacttccagatattCaagaaaaacttcaccaggta	17	10	4	10	0	3	2	3	0	0	2	4	2	4	2	2	1	3	1	2	1	7	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:64608224C>G	ENST00000357395.3	+	82	15441	c.4297C>G	c.(4297-4299)Caa>Gaa	p.Q1433E	SYNE2_ENST00000344113.4_Missense_Mutation_p.Q5048E|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q5048E|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q1433E|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q4965E|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q1682E			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5048					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCAGATATTCAAGAAAAACT	0.353													10	60					0	0	0	0	G	64608224	C	G	64608224	3	3	357	1	0	0	0	0	1	0	0	0	15537	827	29	2	15460	2	SYNE2	14	64608224	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3421144	64608224	42741316	538	67830											
MTHFD1	4522	broad.mit.edu	37	chr14	64882110	64882110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacatctttgaatgaagactCtactgtacatgggttcttag	11	15	8	7	0	3	3	0	2	3	1	3	3	3	3	0	1	3	2	0	1	6	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:64882110C>G	ENST00000555709.1	+	5	662	c.275C>G	c.(274-276)tCt>tGt	p.S92C	MTHFD1_ENST00000545908.1_Missense_Mutation_p.S148C|MTHFD1_ENST00000216605.7_Missense_Mutation_p.S148C|MTHFD1_ENST00000555252.1_Missense_Mutation_p.S72C	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	92	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AATGAAGACTCTACTGTACAT	0.353													26	94					0	0	0	0	G	64882110	C	G	64882110	3	3	357	1	0	0	0	0	1	0	0	0	9997	913	32	2	293	2	MTHFD1	14	64882110	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	273886	64882110	42467430	539	67831											
SLC10A1	6554	broad.mit.edu	37	chr14	70253015	70253015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaggtggagcaggtggtCatcacaatgctggtgggaga	11	7	17	6	0	2	2	2	0	0	2	2	4	2	3	0	6	2	2	0	6	2	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:70253015C>T	ENST00000216540.4	-	2	499	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	122					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		AGCAGGTGGTCATCACAATGC	0.527													18	56					0	0	0	0	T	70253015	C	T	70253015	3	4	357	1	0	0	0	0	1	0	0	0	14461	826	29	2	699	2	SLC10A1	14	70253015	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	5370905	70253015	37096525	540	67832											
PCNX	22990	broad.mit.edu	37	chr14	71443670	71443670	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaaacagatttggcagctGatcggaagctctttcgtctt	9	14	10	8	2	2	3	0	2	2	1	4	4	2	4	0	2	3	3	0	2	2	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:71443670G>C	ENST00000304743.2	+	6	1062	c.616G>C	c.(616-618)Gat>Cat	p.D206H	PCNX_ENST00000238570.5_Missense_Mutation_p.D206H|PCNX_ENST00000439984.3_Missense_Mutation_p.D206H	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	206						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTTGGCAGCTGATCGGAAGCT	0.388													5	62					0	0	0	0	C	71443670	G	C	71443670	3	2	357	1	0	0	0	0	1	0	0	0	11662	1290	45	2	638	2	PCNX	14	71443670	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1190655	71443670	35905870	541	67833											
PAPLN	89932	broad.mit.edu	37	chr14	73733290	73733290	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctacacctgtgtcgctttCaatgggcaggaccgagacca	9	10	10	12	2	2	1	1	0	1	1	3	3	2	2	3	2	1	2	3	2	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:73733290C>T	ENST00000427855.1	+	24	3447	c.3345C>T	c.(3343-3345)ttC>ttT	p.F1115F	PAPLN_ENST00000554301.1_Silent_p.F1115F|PAPLN_ENST00000555445.1_Silent_p.F1099F|PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000340738.5_Silent_p.F1088F			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1115	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTGTCGCTTTCAATGGGCAGG	0.592													20	77					0	0	0	0	T	73733290	C	T	73733290	2	4	357	1	0	0	0	0	0	0	0	1	11499	825	29	2		2	PAPLN	14	73733290	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2289620	73733290	33616250	542	67834											
ISM2	145501	broad.mit.edu	37	chr14	77944663	77944663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccaaggtgtccttgtcctCagtgcctttgggaggaaagg	7	10	14	10	0	1	0	1	0	0	0	3	2	3	2	4	4	1	0	4	4	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:77944663C>T	ENST00000393684.3	-	7	1247	c.856G>A	c.(856-858)Gag>Aag	p.E286K	ISM2_ENST00000342219.4_Missense_Mutation_p.E374K|ISM2_ENST00000493585.1_Silent_p.L258L|ISM2_ENST00000412904.1_Missense_Mutation_p.E293K|ISM2_ENST00000429906.1_Missense_Mutation_p.E293K			Q6H9L7	ISM2_HUMAN	isthmin 2	374						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TCCTTGTCCTCAGTGCCTTTG	0.627													25	96					0	0	0	0	T	77944663	C	T	77944663	3	4	357	1	0	0	0	0	1	0	0	0	7914	835	29	2	603	2	ISM2	14	77944663	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	4211373	77944663	29404877	543	67835											
TRIP11	9321	broad.mit.edu	37	chr14	92470853	92470853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaattctgaatagtttctCtaaacatatcttggccacta	14	15	4	8	0	3	1	0	1	3	0	4	1	3	1	1	1	1	1	1	1	8	8			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:92470853C>T	ENST00000267622.4	-	11	3840	c.3467G>A	c.(3466-3468)aGa>aAa	p.R1156K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1156					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AATAGTTTCTCTAAACATATC	0.338			T	PDGFRB	AML								9	17					0	0	0	0	T	92470853	C	T	92470853	3	4	357	1	0	0	0	0	1	0	0	0	16650	913	32	2	2516	2	TRIP11	14	92470853	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	14526190	92470853	14878687	544	67836											
ATG2B	55102	broad.mit.edu	37	chr14	96775928	96775928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatgatcgaccactggaatCtacctatagccaaaaaacct	15	8	7	11	1	1	1	0	1	1	0	2	4	1	3	4	2	3	0	4	2	7	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:96775928C>T	ENST00000359933.4	-	29	5058	c.4165G>A	c.(4165-4167)Gat>Aat	p.D1389N	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1389										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCACTGGAATCTACCTATAGC	0.353													11	31					0	0	0	0	T	96775928	C	T	96775928	3	4	357	1	0	0	0	0	1	0	0	0	1098	913	32	2	2127	2	ATG2B	14	96775928	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	4305075	96775928	10573612	545	67837											
WDR20	91833	broad.mit.edu	37	chr14	102675970	102675970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatagcatgggacacatttCtagcaagagcagtgacaaac	15	8	9	9	0	2	2	1	1	1	1	2	3	2	3	0	1	4	3	0	1	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:102675970C>G	ENST00000335263.5	+	3	1543	c.1463C>G	c.(1462-1464)tCt>tGt	p.S488C	WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556807.1_Missense_Mutation_p.S427C|WDR20_ENST00000556511.2_Missense_Mutation_p.S427C|WDR20_ENST00000545563.1_Missense_Mutation_p.S315C|WDR20_ENST00000499851.2_Missense_Mutation_p.S231C|WDR20_ENST00000454394.2_Missense_Mutation_p.S519C|WDR20_ENST00000424963.2_Missense_Mutation_p.S364C|WDR20_ENST00000342702.3_Missense_Mutation_p.S488C|WDR20_ENST00000299135.6_3'UTR	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	488										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GGACACATTTCTAGCAAGAGC	0.478											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	95					0	0	0	0	G	102675970	C	G	102675970	3	3	357	1	0	0	0	0	1	0	0	0	17376	913	32	2	1490	2	WDR20	14	102675970	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	5900042	102675970	4673570	546	67838											
RCOR1	23186	broad.mit.edu	37	chr14	103173691	103173691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatatcatttttgtaggctCttgggatgctcttctggcat	6	18	10	7	0	4	1	1	1	3	0	4	2	4	2	0	3	1	4	0	3	2	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:103173691C>G	ENST00000262241.6	+	5	728	c.502C>G	c.(502-504)Ctt>Gtt	p.L168V	RCOR1_ENST00000570597.1_Missense_Mutation_p.L165V	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	165	ELM2.|Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TTTGTAGGCTCTTGGGATGCT	0.343													13	58					0	0	0	0	G	103173691	C	G	103173691	3	3	357	1	0	0	0	0	1	0	0	0	13264	913	32	2	511	2	RCOR1	14	103173691	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	497721	103173691	4175849	547	67839											
TRMT61A	115708	broad.mit.edu	37	chr14	104001083	104001083	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggctccgacaccagccccttCcgcagcggcacgcccatgaa	8	4	10	19	4	0	1	0	1	0	0	2	2	2	1	6	2	2	3	6	2	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:104001083C>G	ENST00000389749.4	+	4	902	c.795C>G	c.(793-795)ttC>ttG	p.F265L		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	265						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						CCAGCCCCTTCCGCAGCGGCA	0.706													5	12					0	0	0	0	G	104001083	C	G	104001083	3	3	357	1	0	0	0	0	1	0	0	0	16664	854	30	2	805	2	TRMT61A	14	104001083	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	827392	104001083	3348457	548	67840											
PPP1R13B	23368	broad.mit.edu	37	chr14	104205305	104205305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagggggttaaaccggactCtcagcccgtgccccgtccgc	6	6	12	17	4	1	0	1	0	1	0	3	1	2	1	6	3	3	1	6	3	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:104205305C>T	ENST00000202556.9	-	13	2930	c.2648G>A	c.(2647-2649)aGa>aAa	p.R883K	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Missense_Mutation_p.R302K	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	883					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AAACCGGACTCTCAGCCCGTG	0.577													29	131					0	0	0	0	T	104205305	C	T	104205305	3	4	357	1	0	0	0	0	1	0	0	0	12433	913	32	2	644	2	PPP1R13B	14	104205305	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	204222	104205305	3144235	549	67841											
TDRD9	122402	broad.mit.edu	37	chr14	104481099	104481099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaattgaagactagaatctCacagttcaacatgcatgttg	15	11	8	7	0	2	4	2	1	1	3	3	4	2	4	0	0	2	3	0	0	5	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:104481099C>T	ENST00000409874.4	+	21	2192	c.2144C>T	c.(2143-2145)tCa>tTa	p.S715L	TDRD9_ENST00000339063.5_Missense_Mutation_p.S715L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	715					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ACTAGAATCTCACAGTTCAAC	0.388													13	83					0	0	0	0	T	104481099	C	T	104481099	3	4	357	1	0	0	0	0	1	0	0	0	15830	838	29	2	2226	2	TDRD9	14	104481099	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	275794	104481099	2868441	550	67842											
AHNAK2	113146	broad.mit.edu	37	chr14	105406785	105406785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaggaggcagatccatgtgGatggcagactgcggggccac	9	6	16	10	1	1	2	1	0	0	2	2	4	2	4	2	6	1	2	2	6	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:105406785G>A	ENST00000333244.5	-	7	15122	c.15003C>T	c.(15001-15003)atC>atT	p.I5001I	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5001						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GATCCATGTGGATGGCAGACT	0.532													13	71					0	0	0	0	A	105406785	G	A	105406785	2	1	357	1	0	0	0	0	0	0	0	1	415	1164	41	2		2	AHNAK2	14	105406785	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	925686	105406785	1942755	551	67843											
AHNAK2	113146	broad.mit.edu	37	chr14	105420816	105420816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtcctgaatctgaggttGaggaacttccgcctcctctg	6	12	10	13	1	2	3	0	3	2	0	5	4	5	4	5	2	1	1	5	2	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:105420816G>A	ENST00000333244.5	-	7	1091	c.972C>T	c.(970-972)ctC>ctT	p.L324L		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	324						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCTGAGGTTGAGGAACTTCC	0.647													9	30					0	0	0	0	A	105420816	G	A	105420816	2	1	357	1	0	0	0	0	0	0	0	1	415	1277	45	2		2	AHNAK2	14	105420816	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	14031	105420816	1928724	552	67844											
JAG2	3714	broad.mit.edu	37	chr14	105609913	105609913	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctgggtgatggcggccacGatggcgtgggccgcgccctg	3	6	19	13	6	0	1	0	1	0	0	0	2	0	1	3	5	0	1	3	5	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:105609913G>A	ENST00000331782.3	-	25	3550	c.3147C>T	c.(3145-3147)atC>atT	p.I1049I	JAG2_ENST00000347004.2_Silent_p.I1011I	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1049					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TGGCGGCCACGATGGCGTGGG	0.657													5	14					0	0	0	0	A	105609913	G	A	105609913	2	1	357	1	0	0	0	0	0	0	0	1	7988	1048	37	1		1	JAG2	14	105609913	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	189097	105609913	1739627	553	67845											
MKRN3	7681	broad.mit.edu	37	chr15	23811455	23811455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgattggctcggctgctGaaaggggtttctttgaagcc	6	13	14	8	1	1	3	0	3	1	0	2	3	1	3	1	4	2	4	1	4	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:23811455G>A	ENST00000314520.3	+	1	1002	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	176						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTCGGCTGCTGAAAGGGGTTT	0.607													8	41					0	0	0	0	A	23811455	G	A	23811455	3	1	357	1	0	0	0	0	1	0	0	0	9677	1291	45	2	528	2	MKRN3	15	23811455	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08		23811455	78719937	554	67846											
ATP10A	57194	broad.mit.edu	37	chr15	25958823	25958823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcaggggtgggagtacctGaagagcagggctgcaggaga	10	4	21	6	0	0	3	0	1	0	2	0	5	0	4	1	6	3	5	1	6	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:25958823G>A	ENST00000356865.6	-	10	2453	c.2342C>T	c.(2341-2343)tCa>tTa	p.S781L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	781					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGAGTACCTGAAGAGCAGGG	0.562													8	21					0	0	0	0	A	25958823	G	A	25958823	3	1	357	1	0	0	0	0	1	0	0	0	1120	1294	45	2	2205	2	ATP10A	15	25958823	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2147368	25958823	76572569	555	67847											
HERC2	8924	broad.mit.edu	37	chr15	28493761	28493761	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttactaataagcaaacgttGaaaacgcagtaacaaatcca	19	9	5	8	2	0	1	0	1	0	0	1	1	1	1	1	0	5	4	1	0	8	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:28493761G>C	ENST00000261609.7	-	21	3280	c.3172C>G	c.(3172-3174)Caa>Gaa	p.Q1058E		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1058					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAAACGTTGAAAACGCAGT	0.383													12	20					0	0	0	0	C	28493761	G	C	28493761	3	2	357	1	0	0	0	0	1	0	0	0	7108	1299	45	2	11624	2	HERC2	15	28493761	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2534938	28493761	74037631	556	67848											
NDNL2	56160	broad.mit.edu	37	chr15	29561130	29561130	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaacttaagaactttcatCttgctggtttccaggttggt	10	15	8	8	0	2	1	1	0	1	1	3	1	3	1	1	3	3	3	1	3	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:29561130C>G	ENST00000332303.4	-	1	903	c.780G>C	c.(778-780)aaG>aaC	p.K260N	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	260	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GAACTTTCATCTTGCTGGTTT	0.557													30	119					0	0	0	0	G	29561130	C	G	29561130	3	3	357	1	0	0	0	0	1	0	0	0	10318	912	32	2	138	2	NDNL2	15	29561130	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1067369	29561130	72970262	557	67849											
OTUD7A	161725	broad.mit.edu	37	chr15	31776545	31776545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgacggcgacgtgctggccGacgcaccagactcctccttg	6	6	12	17	6	0	1	0	0	0	1	2	4	2	1	5	2	1	2	5	2	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:31776545G>A	ENST00000382902.1	-	11	1846	c.1754C>T	c.(1753-1755)tCg>tTg	p.S585L	OTUD7A_ENST00000307050.4_Missense_Mutation_p.S578L			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	578						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CGTGCTGGCCGACGCACCAGA	0.716													3	13					0	0	0	0	A	31776545	G	A	31776545	3	1	357	1	0	0	0	0	1	0	0	0	11389	1059	37	1	1051	1	OTUD7A	15	31776545	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2215415	31776545	70754847	558	67850											
AQR	9716	broad.mit.edu	37	chr15	35185891	35185891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaatgagtaacaattagagtCctctgttctgggaagttgtg	11	13	12	5	0	2	2	0	1	2	1	3	4	3	3	1	1	1	3	1	1	5	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:35185891C>T	ENST00000156471.5	-	23	2769	c.2544G>A	c.(2542-2544)agG>agA	p.R848R		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	848						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CAATTAGAGTCCTCTGTTCTG	0.463													8	104					0	0	0	0	T	35185891	C	T	35185891	2	4	357	1	0	0	0	0	0	0	0	1	837	854	30	2		2	AQR	15	35185891	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3409346	35185891	67345501	559	67851											
RASGRP1	10125	broad.mit.edu	37	chr15	38786683	38786683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttgacaaaagcccgctttCtgaccaagactgggctagga	12	8	10	11	1	1	3	0	2	1	1	1	4	1	4	2	2	1	2	2	2	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:38786683C>T	ENST00000310803.5	-	16	2336	c.2159G>A	c.(2158-2160)aGa>aAa	p.R720K	RASGRP1_ENST00000561180.1_Missense_Mutation_p.R771K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.R672K|RASGRP1_ENST00000450598.2_Missense_Mutation_p.R685K|RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000558164.1_Intron	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	720	PT region; mediates the BCR-dependent translocation to plasma membrane (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGCCCGCTTTCTGACCAAGAC	0.512													4	8					0	0	0	0	T	38786683	C	T	38786683	3	4	357	1	0	0	0	0	1	0	0	0	13156	913	32	2	242	2	RASGRP1	15	38786683	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3600792	38786683	63744709	560	67852											
CHST14	113189	broad.mit.edu	37	chr15	40763941	40763941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggcgtcctggacagcgtgGacgtccgcctcaagatggac	8	6	14	13	4	1	1	1	0	0	1	3	4	3	4	3	4	1	0	3	4	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:40763941G>A	ENST00000306243.5	+	1	782	c.529G>A	c.(529-531)Gac>Aac	p.D177N	CHST14_ENST00000559991.1_Missense_Mutation_p.D152N	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	177					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGACAGCGTGGACGTCCGCCT	0.602													16	71					0	0	0	0	A	40763941	G	A	40763941	3	1	357	1	0	0	0	0	1	0	0	0	3431	1174	41	2	531	2	CHST14	15	40763941	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1977258	40763941	61767451	561	67853											
CASC5	57082	broad.mit.edu	37	chr15	40917154	40917154	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaccaaatctgaataatttGaatggaaaaactggagagtt	19	10	8	4	0	1	3	0	2	1	1	1	5	1	4	1	2	2	1	1	2	7	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:40917154G>C	ENST00000346991.5	+	11	5160	c.4770G>C	c.(4768-4770)ttG>ttC	p.L1590F	CASC5_ENST00000399668.2_Missense_Mutation_p.L1564F			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1590					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGAATAATTTGAATGGAAAAA	0.358													14	45					0	0	0	0	C	40917154	G	C	40917154	3	2	357	1	0	0	0	0	1	0	0	0	2688	1281	45	2	4808	2	CASC5	15	40917154	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	153213	40917154	61614238	562	67854											
MGA	23269	broad.mit.edu	37	chr15	41961828	41961828	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagaacattcagattactCagctgaaaatagattacaat	18	11	5	7	0	3	4	3	1	0	3	3	4	3	4	0	0	4	1	0	0	7	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:41961828C>T	ENST00000219905.7	+	2	917	c.736C>T	c.(736-738)Cag>Tag	p.Q246*	MGA_ENST00000568630.1_Intron|MGA_ENST00000570161.1_Nonsense_Mutation_p.Q246*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Q246*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Q246*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q246*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	246						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q246E(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCAGATTACTCAGCTGAAAAT	0.418													5	25					0	0	0	0	T	41961828	C	T	41961828	4	4	357	1	0	0	0	0	0	1	0	0	9609	827	29	2	738	2	MGA	15	41961828	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1044674	41961828	60569564	563	67855											
MGA	23269	broad.mit.edu	37	chr15	42041056	42041056	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggcagattgtccagcttCtacctttgcatcagcttcga	8	13	9	11	1	2	1	1	0	1	1	4	2	3	1	2	1	4	4	2	1	1	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:42041056C>T	ENST00000219905.7	+	16	5615	c.5434C>T	c.(5434-5436)Cta>Tta	p.L1812L	MGA_ENST00000570161.1_Silent_p.L1812L|MGA_ENST00000389936.4_Silent_p.L1773L|MGA_ENST00000566586.1_Silent_p.L1603L|MGA_ENST00000545763.1_Silent_p.L1603L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1773						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGTCCAGCTTCTACCTTTGCA	0.448													14	36					0	0	0	0	T	42041056	C	T	42041056	2	4	357	1	0	0	0	0	0	0	0	1	9609	912	32	2		2	MGA	15	42041056	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	79228	42041056	60490336	564	67856											
SPTBN5	51332	broad.mit.edu	37	chr15	42153688	42153688	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcttctccactgagctcaGaaacagctgagaacaaagga	15	7	8	11	0	3	3	1	2	2	2	4	5	3	4	1	1	4	2	1	1	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:42153688G>A	ENST00000320955.6	-	46	7971	c.7744C>T	c.(7744-7746)Ctg>Ttg	p.L2582L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2582					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGAGCTCAGAAACAGCTGA	0.557													18	59					0	0	0	0	A	42153688	G	A	42153688	2	1	357	1	0	0	0	0	0	0	0	1	15212	933	33	2		2	SPTBN5	15	42153688	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	112632	42153688	60377704	565	67857											
CAPN3	825	broad.mit.edu	37	chr15	42652175	42652175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctattatcggagtgaaaGagaagacattcgagcaactt	14	11	9	7	2	0	3	0	1	0	2	3	6	1	4	1	1	2	1	1	1	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:42652175G>C	ENST00000397163.3	+	1	391	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	CAPN3_ENST00000349748.3_Missense_Mutation_p.E58Q|CAPN3_ENST00000318023.7_Missense_Mutation_p.E58Q|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000357568.3_Missense_Mutation_p.E58Q	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	58					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CGGAGTGAAAGAGAAGACATT	0.483													55	222					0	0	0	0	C	42652175	G	C	42652175	3	2	357	1	0	0	0	0	1	0	0	0	2653	943	33	2	226	2	CAPN3	15	42652175	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	498487	42652175	59879217	566	67858											
COPS2	9318	broad.mit.edu	37	chr15	49447763	49447763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcgcacatgaaatcatcctCcatgtcagacatcttggccg	11	10	7	13	2	3	2	2	1	1	1	6	2	5	2	3	1	0	1	3	1	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:49447763C>G	ENST00000388901.5	-	1	86	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	COPS2_ENST00000542928.1_Missense_Mutation_p.E5Q|COPS2_ENST00000299259.6_Missense_Mutation_p.E5Q	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	5					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		AAATCATCCTCCATGTCAGAC	0.572													6	50					0	0	0	0	G	49447763	C	G	49447763	3	3	357	1	0	0	0	0	1	0	0	0	3763	864	30	2	1391	2	COPS2	15	49447763	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	6795588	49447763	53083629	567	67859											
ATP8B4	79895	broad.mit.edu	37	chr15	50152430	50152430	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctggctaaagctgctcacGgtgtctgtggttttcttaca	6	15	10	10	1	3	0	1	0	2	0	4	0	4	0	1	3	3	4	1	3	3	4	rs142681978		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:50152430G>C	ENST00000284509.6	-	28	3681	c.3540C>G	c.(3538-3540)acC>acG	p.T1180T	ATP8B4_ENST00000559829.1_Silent_p.T1180T	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1180					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGCTGCTCACGGTGTCTGTGG	0.393													22	95					0	0	0	0	C	50152430	G	C	50152430	2	2	357	1	0	0	0	0	0	0	0	1	1201	1103	39	3		3	ATP8B4	15	50152430	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	704667	50152430	52378962	568	67860											
ATP8B4	79895	broad.mit.edu	37	chr15	50215688	50215688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatctgtccttctgggtttCgaactgaaaagaaaaaagtt	13	14	8	6	1	2	2	0	1	2	1	4	3	3	2	1	1	1	2	1	1	7	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:50215688C>T	ENST00000284509.6	-	17	1787	c.1646G>A	c.(1645-1647)cGa>cAa	p.R549Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R549Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	549					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCTGGGTTTCGAACTGAAAA	0.378													13	33					0	0	0	0	T	50215688	C	T	50215688	3	4	357	1	0	0	0	0	1	0	0	0	1201	884	31	1	1980	1	ATP8B4	15	50215688	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	63258	50215688	52315704	569	67861											
DMXL2	23312	broad.mit.edu	37	chr15	51787314	51787314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagtatctcaaaccacactCatctaatgtatctcttcctg	12	13	3	13	0	4	0	2	0	3	0	7	0	5	0	2	0	1	2	2	0	5	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:51787314C>T	ENST00000251076.5	-	19	4977	c.4690G>A	c.(4690-4692)Gag>Aag	p.E1564K	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.E1564K|DMXL2_ENST00000449909.3_Missense_Mutation_p.E928K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1564						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAACCACACTCATCTAATGTA	0.373													18	59					0	0	0	0	T	51787314	C	T	51787314	3	4	357	1	0	0	0	0	1	0	0	0	4632	835	29	2	4523	2	DMXL2	15	51787314	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1571626	51787314	50744078	570	67862											
PRTG	283659	broad.mit.edu	37	chr15	55931941	55931941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatgcaggcctcctccaGtgcaggaagatggaagatga	12	7	14	8	0	0	4	0	2	0	2	2	6	2	6	3	3	2	2	3	3	3	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:55931941G>A	ENST00000389286.4	-	13	2270	c.2223C>T	c.(2221-2223)caC>caT	p.H741H		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	741	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCCTCCTCCAGTGCAGGAAGA	0.498													29	89					0	0	0	0	A	55931941	G	A	55931941	2	1	357	1	0	0	0	0	0	0	0	1	12717	1020	36	4		4	PRTG	15	55931941	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4144627	55931941	46599451	571	67863											
VPS13C	54832	broad.mit.edu	37	chr15	62299582	62299582	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggcaattttataactcttGagtaactgcctgtgcttttt	9	18	7	7	0	1	1	0	1	1	0	1	1	1	1	1	1	4	3	1	1	5	8			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:62299582G>C	ENST00000261517.5	-	15	1288	c.1215C>G	c.(1213-1215)ctC>ctG	p.L405L	VPS13C_ENST00000395898.3_Silent_p.L362L|VPS13C_ENST00000395896.4_Silent_p.L405L|VPS13C_ENST00000249837.3_Silent_p.L362L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	405					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TATAACTCTTGAGTAACTGCC	0.328													6	16					0	0	0	0	C	62299582	G	C	62299582	2	2	357	1	0	0	0	0	0	0	0	1	17287	1277	45	2		2	VPS13C	15	62299582	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6367641	62299582	40231810	572	67864											
RAB11A	8766	broad.mit.edu	37	chr15	66180057	66180057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagatttaccgcattgtttCtcagaagcaaatgtcagaca	14	11	8	8	1	2	3	2	0	1	3	3	4	2	3	1	0	2	3	1	0	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:66180057C>T	ENST00000261890.2	+	5	658	c.530C>T	c.(529-531)tCt>tTt	p.S177F	RAB11A_ENST00000564910.1_Missense_Mutation_p.S107F|RAB11A_ENST00000569896.1_Intron|RAB11A_ENST00000565075.1_Missense_Mutation_p.S159F|RAB11A_ENST00000435304.2_Intron	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	177					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						CGCATTGTTTCTCAGAAGCAA	0.378													13	26					0	0	0	0	T	66180057	C	T	66180057	3	4	357	1	0	0	0	0	1	0	0	0	12973	913	32	2	548	2	RAB11A	15	66180057	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3880475	66180057	36351335	573	67865											
ITGA11	22801	broad.mit.edu	37	chr15	68600009	68600009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccgtatattgcagttgatgGagacgacatcagagttgctg	10	11	13	7	2	1	3	1	1	0	2	1	5	1	3	1	1	2	5	1	1	2	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:68600009G>A	ENST00000423218.2	-	27	3298	c.3203C>T	c.(3202-3204)tCc>tTc	p.S1068F	ITGA11_ENST00000315757.7_Missense_Mutation_p.S1067F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1067					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GCAGTTGATGGAGACGACATC	0.527													3	25					0	0	0	0	A	68600009	G	A	68600009	3	1	357	1	0	0	0	0	1	0	0	0	7927	1174	41	2	382	2	ITGA11	15	68600009	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2419952	68600009	33931383	574	67866											
MYO9A	4649	broad.mit.edu	37	chr15	72193586	72193586	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgctgcctacacagcaaGaccctgaaccatcgctgcaa	14	6	7	14	1	0	2	0	1	0	1	1	2	0	2	3	0	6	4	3	0	5	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:72193586G>C	ENST00000356056.5	-	23	3568	c.3096C>G	c.(3094-3096)gtC>gtG	p.V1032V	MYO9A_ENST00000424560.1_Silent_p.V1032V|MYO9A_ENST00000444904.1_Silent_p.V1013V|MYO9A_ENST00000566885.1_Silent_p.V652V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Silent_p.V1032V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1032	IQ 1.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TACACAGCAAGACCCTGAACC	0.453													20	31					0	0	0	0	C	72193586	G	C	72193586	2	2	357	1	0	0	0	0	0	0	0	1	10154	929	33	2		2	MYO9A	15	72193586	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3593577	72193586	30337806	575	67867											
SCAMP2	10066	broad.mit.edu	37	chr15	75146972	75146972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcggggcgttggtcaGctgggtcacagagggatcct	5	8	17	11	2	2	1	2	0	0	1	3	2	3	2	2	5	2	2	2	5	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:75146972G>T	ENST00000268099.9	-	2	185	c.76C>A	c.(76-78)Ctg>Atg	p.L26M		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	26					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						GCGTTGGTCAGCTGGGTCACA	0.622													3	20					2.56e-06	2.63903e-06	1	0	T	75146972	G	T	75146972	3	4	357	1	0	0	0	0	1	0	0	0	13957	962	34	4	945	4	SCAMP2	15	75146972	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2953386	75146972	27384420	576	67868											
KIAA1024	23251	broad.mit.edu	37	chr15	79749474	79749474	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acaaaaggcgagcaaagcacGaaagcttagatgaccttcaa	18	5	9	9	2	1	2	1	1	0	1	1	4	1	2	1	1	3	3	1	1	6	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:79749474G>C	ENST00000305428.3	+	2	1060	c.985G>C	c.(985-987)Gaa>Caa	p.E329Q		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	329						integral to membrane		p.E329K(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGCAAAGCACGAAAGCTTAGA	0.517													26	170					0	0	0	0	C	79749474	G	C	79749474	3	2	357	1	0	0	0	0	1	0	0	0	8256	1059	37	3	987	3	KIAA1024	15	79749474	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4602502	79749474	22781918	577	67869											
ZFAND6	54469	broad.mit.edu	37	chr15	80415055	80415055	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctagccctgtatcaaatCagtcacttttatcagaatct	11	16	4	10	0	6	1	4	0	2	1	6	1	6	1	1	0	1	1	1	0	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:80415055C>G	ENST00000261749.6	+	5	699	c.277C>G	c.(277-279)Cag>Gag	p.Q93E	ZFAND6_ENST00000558087.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000561060.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000559775.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000559835.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000558688.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000559157.1_Missense_Mutation_p.Q81E|ZFAND6_ENST00000558494.1_Missense_Mutation_p.Q93E	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	93	Ser-rich.						DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TGTATCAAATCAGTCACTTTT	0.343													10	48					0	0	0	0	G	80415055	C	G	80415055	3	3	357	1	0	0	0	0	1	0	0	0	17726	827	29	2	287	2	ZFAND6	15	80415055	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	665581	80415055	22116337	578	67870											
POLG	5428	broad.mit.edu	37	chr15	89867048	89867048	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccggcgcactgctcaccaGagctaggggttgacctggca	8	6	14	13	2	1	2	1	1	0	1	1	2	1	2	3	4	3	5	3	4	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:89867048G>C	ENST00000268124.5	-	12	2488	c.2155C>G	c.(2155-2157)Ctg>Gtg	p.L719V	POLG_ENST00000442287.2_Missense_Mutation_p.L719V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	719					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CTGCTCACCAGAGCTAGGGGT	0.572								DNA polymerases (catalytic subunits)					19	98					0	0	0	0	C	89867048	G	C	89867048	3	2	357	1	0	0	0	0	1	0	0	0	12272	933	33	2	1612	2	POLG	15	89867048	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	9451993	89867048	12664344	579	67871											
ANPEP	290	broad.mit.edu	37	chr15	90335531	90335531	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcgatagcgttgcagtaGacggtggaccgcaggttggg	7	8	19	7	4	0	1	0	0	0	1	0	3	0	2	1	5	2	5	1	5	2	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:90335531G>C	ENST00000300060.6	-	18	2701	c.2388C>G	c.(2386-2388)gtC>gtG	p.V796V		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	796	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	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)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CGTTGCAGTAGACGGTGGACC	0.647													31	170					0	0	0	0	C	90335531	G	C	90335531	2	2	357	1	0	0	0	0	0	0	0	1	709	929	33	2		2	ANPEP	15	90335531	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	468483	90335531	12195861	580	67872											
UNC45A	55898	broad.mit.edu	37	chr15	91479549	91479549	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtggggatgtcaaagcactCtaccggcggagccaagccct	9	6	14	12	2	2	0	1	0	1	0	2	2	2	2	3	5	4	1	3	5	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:91479549C>G	ENST00000394275.2	+	7	1075	c.240C>G	c.(238-240)ctC>ctG	p.L80L	UNC45A_ENST00000418476.2_Silent_p.L95L|UNC45A_ENST00000553671.2_3'UTR	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	95					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TCAAAGCACTCTACCGGCGGA	0.572													22	94					0	0	0	0	G	91479549	C	G	91479549	2	3	357	1	0	0	0	0	0	0	0	1	17084	900	32	2		2	UNC45A	15	91479549	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1144018	91479549	11051843	581	67873											
TARSL2	123283	broad.mit.edu	37	chr15	102242581	102242581	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattgccctcccaatatgttGaggaattctaaatatcaaag	14	12	7	8	0	2	1	1	1	1	0	3	3	3	2	2	1	1	1	2	1	7	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:102242581G>C	ENST00000335968.3	-	9	1298	c.1082C>G	c.(1081-1083)tCa>tGa	p.S361*		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	361					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCAATATGTTGAGGAATTCTA	0.338													10	53					0	0	0	0	C	102242581	G	C	102242581	4	2	357	1	0	0	0	0	0	1	0	0	15652	1294	45	2	1370	2	TARSL2	15	102242581	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	10763032	102242581	288811	582	67874											
PIGQ	9091	broad.mit.edu	37	chr16	628881	628881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggccctgtccctcctctCggacattatcgccctcctca	4	11	8	18	2	2	0	1	0	1	0	7	1	5	1	5	3	0	0	5	3	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:628881C>T	ENST00000321878.5	+	6	1325	c.1166C>T	c.(1165-1167)tCg>tTg	p.S389L	PIGQ_ENST00000026218.5_Missense_Mutation_p.S389L|PIGQ_ENST00000409527.2_Missense_Mutation_p.S389L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	389	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TCCCTCCTCTCGGACATTATC	0.647													7	66					0	0	0	0	T	628881	C	T	628881	3	4	357	1	0	0	0	0	1	0	0	0	11968	893	31	1	1184	1	PIGQ	16	628881	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08		628881	89725872	583	67875											
RPL3L	6123	broad.mit.edu	37	chr16	1995860	1995860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagcgtaatgacccgcttCttggtaccagcaatacaacc	11	9	7	14	2	2	1	1	1	1	0	2	1	2	1	3	1	5	4	3	1	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:1995860C>T	ENST00000268661.7	-	8	1117	c.1023G>A	c.(1021-1023)aaG>aaA	p.K341K		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	341					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TGACCCGCTTCTTGGTACCAG	0.622													16	77					0	0	0	0	T	1995860	C	T	1995860	2	4	357	1	0	0	0	0	0	0	0	1	13679	912	32	2		2	RPL3L	16	1995860	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1366979	1995860	88358893	584	67876											
NTN3	4917	broad.mit.edu	37	chr16	2522374	2522374	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgacgtccgtgtagtgctCacaaggcctagcacggcagg	9	6	13	13	4	1	0	1	0	0	0	2	1	2	0	3	3	2	4	3	3	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:2522374C>G	ENST00000293973.1	+	1	875	c.672C>G	c.(670-672)ctC>ctG	p.L224L		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	224	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GTGTAGTGCTCACAAGGCCTA	0.667													20	51					0	0	0	0	G	2522374	C	G	2522374	2	3	357	1	0	0	0	0	0	0	0	1	10772	813	29	2		2	NTN3	16	2522374	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	526514	2522374	87832379	585	67877											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139625	3139625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggtgcagtggtggggccGagggccaccgtgggtcagca	5	6	20	10	2	1	0	1	0	0	0	1	1	1	0	3	6	2	2	3	6	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:3139625G>A	ENST00000252463.2	-	5	1732	c.1645C>T	c.(1645-1647)Cgg>Tgg	p.R549W	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R210W|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R467W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	549					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TGGTGGGGCCGAGGGCCACCG	0.716													4	7					0	0	0	0	A	3139625	G	A	3139625	3	1	357	1	0	0	0	0	1	0	0	0	18320	1057	37	1	536	1	ZSCAN10	16	3139625	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	617251	3139625	87215128	586	67878											
GLIS2	84662	broad.mit.edu	37	chr16	4382387	4382387	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtggtccggccccgtgctCtgcacagggagctgggcctg	3	8	17	13	2	1	0	0	0	1	0	2	1	2	1	4	4	3	3	4	4	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:4382387C>T	ENST00000262366.3	+	3	927	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Silent_p.L36L			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	36	Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCCCCGTGCTCTGCACAGGGA	0.687													7	24					0	0	0	0	T	4382387	C	T	4382387	2	4	357	1	0	0	0	0	0	0	0	1	6497	912	32	2		2	GLIS2	16	4382387	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1242762	4382387	85972366	587	67879											
CIITA	4261	broad.mit.edu	37	chr16	10992553	10992553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggaccagtatgtcttccagGactcccagctggagggcctg	7	9	13	12	0	1	0	0	0	1	0	3	3	3	3	4	4	1	2	4	4	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:10992553G>A	ENST00000324288.8	+	4	455	c.322G>A	c.(322-324)Gac>Aac	p.D108N	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.D108N	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	108	Asp/Glu-rich (acidic).				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGTCTTCCAGGACTCCCAGCT	0.567			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								4	27					0	0	0	0	A	10992553	G	A	10992553	3	1	357	1	0	0	0	0	1	0	0	0	3457	1174	41	2	336	2	CIITA	16	10992553	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6610166	10992553	79362200	588	67880											
PRM2	5620	broad.mit.edu	37	chr16	11369770	11369770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaagcttagtgccttctgCatgttctcttcctggttctg	5	16	10	10	0	3	0	0	0	3	0	5	1	4	1	2	2	3	4	2	2	2	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:11369770C>T	ENST00000435245.2	-	2	449	c.340G>A	c.(340-342)Gca>Aca	p.A114T	RMI2_ENST00000572173.1_Intron|PRM2_ENST00000241808.4_Missense_Mutation_p.C99Y			P04554	PRM2_HUMAN	protamine 2	0					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						GTGCCTTCTGCATGTTCTCTT	0.552													17	55					0	0	0	0	T	11369770	C	T	11369770	3	4	357	1	0	0	0	0	1	0	0	0	12613	710	25	4	16	4	PRM2	16	11369770	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	377217	11369770	78984983	589	67881											
SNX29	92017	broad.mit.edu	37	chr16	12172706	12172706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctagtgtggaagccagctctCcaggccacggaagtcctctg	8	8	12	13	1	2	0	0	0	2	0	4	2	3	2	4	3	2	1	4	3	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:12172706C>G	ENST00000566228.1	+	11	1405	c.1336C>G	c.(1336-1338)Cca>Gca	p.P446A	SNX29_ENST00000323433.4_Missense_Mutation_p.P61A|SNX29_ENST00000306030.3_Missense_Mutation_p.P61A	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	61					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGCCAGCTCTCCAGGCCACGG	0.537													4	10					0	0	0	0	G	12172706	C	G	12172706	3	3	357	1	0	0	0	0	1	0	0	0	14986	855	30	2	191	2	SNX29	16	12172706	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	802936	12172706	78182047	590	67882											
MKL2	57496	broad.mit.edu	37	chr16	14328027	14328027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcagtgtccccaacagttCctgaattcttgaaaactcct	10	13	5	13	0	2	2	1	2	1	0	5	2	5	2	4	0	2	1	4	0	4	4	rs34690014		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:14328027C>T	ENST00000571589.1	+	9	890	c.718C>T	c.(718-720)Cct>Tct	p.P240S	MKL2_ENST00000341243.5_Missense_Mutation_p.P229S|MKL2_ENST00000574045.1_Missense_Mutation_p.P240S|MKL2_ENST00000572567.1_Missense_Mutation_p.P229S|MKL2_ENST00000318282.5_Missense_Mutation_p.P240S|MKL2_ENST00000573051.1_Missense_Mutation_p.P189S	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	229					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCAACAGTTCCTGAATTCTT	0.468													24	94					0	0	0	0	T	14328027	C	T	14328027	3	4	357	1	0	0	0	0	1	0	0	0	9671	855	30	2	744	2	MKL2	16	14328027	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2155321	14328027	76026726	591	67883											
RPS15A	6210	broad.mit.edu	37	chr16	18796110	18796110	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccatttttccaggtctttGagttgcacgtcaaatctggg	7	15	10	9	1	3	1	1	1	2	0	4	1	4	1	2	2	2	2	2	2	1	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:18796110G>C	ENST00000322989.4	-	4	344	c.249C>G	c.(247-249)ctC>ctG	p.L83L	RPS15A_ENST00000569083.1_Silent_p.L83L|RPS15A_ENST00000575669.1_5'UTR|RPS15A_ENST00000563390.1_Silent_p.L83L|RPS15A_ENST00000565420.1_Silent_p.L83L|RPS15A_ENST00000576436.1_3'UTR	NM_001019.4	NP_001010.2	P62244	RS15A_HUMAN	ribosomal protein S15a	83					endocrine pancreas development|positive regulation of cell cycle|positive regulation of cell proliferation|response to virus|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2						CCAGGTCTTTGAGTTGCACGT	0.373													12	149					0	0	0	0	C	18796110	G	C	18796110	2	2	357	1	0	0	0	0	0	0	0	1	13711	1277	45	2		2	RPS15A	16	18796110	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4468083	18796110	71558643	592	67884											
LOC81691	81691	broad.mit.edu	37	chr16	20851093	20851093	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaggttcttgagcaggccaGagtggaaatccccctgtttc	9	10	11	11	0	1	2	0	1	1	1	3	3	2	3	3	3	1	3	3	3	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:20851093G>C	ENST00000261377.6	+	14	1609	c.1400G>C	c.(1399-1401)aGa>aCa	p.R467T	AC004381.6_ENST00000348433.6_Missense_Mutation_p.R467T|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.R467T	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					GAGCAGGCCAGAGTGGAAATC	0.453													37	203					0	0	0	0	C	20851093	G	C	20851093	3	2	357	1	0	0	0	0	1	0	0	0	8954	942	33	2	1450	2	LOC81691	16	20851093	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2054983	20851093	69503660	593	67885											
FAM57B	83723	broad.mit.edu	37	chr16	30040777	30040777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catcaatgatgtgcttgcagGaggtggagacgatgtagccg	10	9	15	7	2	1	2	1	1	0	1	1	5	1	3	1	3	3	3	1	3	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:30040777G>A	ENST00000380495.4	-	2	916	c.185C>T	c.(184-186)tCc>tTc	p.S62F	FAM57B_ENST00000279389.4_Missense_Mutation_p.S12F|FAM57B_ENST00000564806.1_Missense_Mutation_p.S12F	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	62	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GTGCTTGCAGGAGGTGGAGAC	0.607													12	47					0	0	0	0	A	30040777	G	A	30040777	3	1	357	1	0	0	0	0	1	0	0	0	5635	1174	41	2	655	2	FAM57B	16	30040777	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	9189684	30040777	60313976	594	67886											
FBRS	64319	broad.mit.edu	37	chr16	30676372	30676372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctagtttgagaaatatccagGaaagatggaaggccttttcc	13	11	10	7	0	0	2	0	1	0	2	2	5	2	4	3	3	0	1	3	3	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:30676372G>A	ENST00000356166.6	+	9	2668	c.1580G>A	c.(1579-1581)gGa>gAa	p.G527E	FBRS_ENST00000287468.5_Missense_Mutation_p.G7E|FBRS_ENST00000568722.1_Intron|FBRS_ENST00000395073.2_5'UTR			Q9HAH7	FBRS_HUMAN	fibrosin	7										ovary(1)	1			Colorectal(24;0.103)			AAATATCCAGGAAAGATGGAA	0.567													10	34					0	0	0	0	A	30676372	G	A	30676372	3	1	357	1	0	0	0	0	1	0	0	0	5752	1174	41	2	26	2	FBRS	16	30676372	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	635595	30676372	59678381	595	67887											
ITGAM	3684	broad.mit.edu	37	chr16	31336820	31336820	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgcctcccctgccttccaGaaccagcgctcacagcgatc	7	9	7	18	2	1	1	1	0	0	1	4	2	3	1	6	0	5	1	6	0	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:31336820G>C	ENST00000544665.3	+	21	2579		c.e21-1		ITGAM_ENST00000287497.8_Splice_Site	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)						blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGCCTTCCAGAACCAGCGCT	0.607													20	63					0	0	0	0	C	31336820	G	C	31336820	5	2	357	1	0	0	0	0	0	0	1	0	7940	956	33	2	2590	2	ITGAM	16	31336820	Splice_Site	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	660448	31336820	59017933	596	67888											
ITGAM	3684	broad.mit.edu	37	chr16	31341829	31341829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgctctcttccacagacctCgcataaccacctcctgatcg	8	9	5	19	3	1	2	0	1	1	1	6	2	3	2	6	0	1	2	6	0	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:31341829C>T	ENST00000544665.3	+	28	3253	c.3182C>T	c.(3181-3183)tCg>tTg	p.S1061L	ITGAM_ENST00000287497.8_Missense_Mutation_p.S1060L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1060					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCACAGACCTCGCATAACCAC	0.607													7	32					0	0	0	0	T	31341829	C	T	31341829	3	4	357	1	0	0	0	0	1	0	0	0	7940	893	31	1	3292	1	ITGAM	16	31341829	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	5009	31341829	59012924	597	67889											
SLC5A2	6524	broad.mit.edu	37	chr16	31496210	31496210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggcagggactggcgctgCaagtggcttggctgttgctg	4	10	17	10	1	0	0	0	0	0	0	0	1	0	1	1	5	2	7	1	5	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:31496210C>T	ENST00000330498.3	+	3	288	c.269C>T	c.(268-270)gCa>gTa	p.A90V		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	90					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						ACTGGCGCTGCAAGTGGCTTG	0.602													11	48					0	0	0	0	T	31496210	C	T	31496210	3	4	357	1	0	0	0	0	1	0	0	0	14753	710	25	4	279	4	SLC5A2	16	31496210	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	154381	31496210	58858543	598	67890											
ABCC11	85320	broad.mit.edu	37	chr16	48247428	48247428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaaagaacactgacagccGaaggagattcaaggaggcca	17	3	11	10	1	1	3	1	1	0	2	1	6	1	4	2	3	2	0	2	3	4	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:48247428G>A	ENST00000394747.1	-	9	1631	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	ABCC11_ENST00000394748.1_Missense_Mutation_p.R428W|ABCC11_ENST00000537808.1_Missense_Mutation_p.R428W|ABCC11_ENST00000356608.2_Missense_Mutation_p.R428W|ABCC11_ENST00000353782.5_Missense_Mutation_p.R428W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	428	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ACTGACAGCCGAAGGAGATTC	0.547													3	32					0	0	0	0	A	48247428	G	A	48247428	3	1	357	1	0	0	0	0	1	0	0	0	51	1057	37	1	2950	1	ABCC11	16	48247428	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	16751218	48247428	42107325	599	67891											
SIAH1	6477	broad.mit.edu	37	chr16	48396174	48396174	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaacaagatggccactctGacattgaagaatgggcggta	15	7	11	8	1	1	4	0	2	1	2	1	4	1	4	1	3	1	1	1	3	5	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:48396174G>A	ENST00000380006.2	-	1	1619	c.166C>T	c.(166-168)Cag>Tag	p.Q56*	SIAH1_ENST00000394725.2_Nonsense_Mutation_p.Q56*|SIAH1_ENST00000356721.3_Nonsense_Mutation_p.Q87*			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	56					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				TGGCCACTCTGACATTGAAGA	0.507													8	61					0	0	0	0	A	48396174	G	A	48396174	4	1	357	1	0	0	0	0	0	1	0	0	14387	1299	45	2	686	2	SIAH1	16	48396174	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	148746	48396174	41958579	600	67892											
ZNF423	23090	broad.mit.edu	37	chr16	49670876	49670876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggatggacaccttggagtcGaagacctcctgacacagggt	10	8	13	10	1	0	2	0	1	0	1	2	6	1	5	3	4	0	0	3	4	1	1	rs138278000		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:49670876G>C	ENST00000561648.1	-	4	2240	c.2187C>G	c.(2185-2187)ttC>ttG	p.F729L	ZNF423_ENST00000562871.1_Missense_Mutation_p.F669L|ZNF423_ENST00000535559.1_Missense_Mutation_p.F612L|ZNF423_ENST00000262383.2_Missense_Mutation_p.F729L|ZNF423_ENST00000563137.2_Missense_Mutation_p.F669L|ZNF423_ENST00000567169.1_Missense_Mutation_p.F612L|ZNF423_ENST00000562520.1_Missense_Mutation_p.F669L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	729					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.F729F(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCTTGGAGTCGAAGACCTCCT	0.567													5	53					0	0	0	0	C	49670876	G	C	49670876	3	2	357	1	0	0	0	0	1	0	0	0	17993	1049	37	3	1687	3	ZNF423	16	49670876	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1274702	49670876	40683877	601	67893											
BRD7	29117	broad.mit.edu	37	chr16	50383954	50383954	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttagttcttctatggactGatagtcattgttcttgatct	7	20	7	7	0	5	2	1	2	4	0	5	3	5	3	0	1	0	2	0	1	3	9			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:50383954G>A	ENST00000394688.3	-	5	730	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	BRD7_ENST00000394689.2_Nonsense_Mutation_p.Q191*|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	191	Bromo.				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TCTATGGACTGATAGTCATTG	0.343													5	66					0	0	0	0	A	50383954	G	A	50383954	4	1	357	1	0	0	0	0	0	1	0	0	1513	1299	45	2	1439	2	BRD7	16	50383954	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	713078	50383954	39970799	602	67894											
TEPP	374739	broad.mit.edu	37	chr16	58018668	58018668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaggactggtcccacttCgtgtcctcggccggggagtt	5	10	14	12	4	0	0	0	0	0	0	5	3	2	2	3	5	0	1	3	5	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:58018668C>A	ENST00000290871.5	+	4	616	c.579C>A	c.(577-579)ttC>ttA	p.F193L	TEPP_ENST00000441824.2_Missense_Mutation_p.F193L|TEPP_ENST00000569996.1_3'UTR	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	193						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						GGTCCCACTTCGTGTCCTCGG	0.672													6	9					0.0381472	0.0383936	1	0	A	58018668	C	A	58018668	3	1	357	1	0	0	0	0	1	0	0	0	15854	883	31	3	593	3	TEPP	16	58018668	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	7634714	58018668	32336085	603	67895											
ELMO3	79767	broad.mit.edu	37	chr16	67235706	67235706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaggtggagggggagtcctCgggtgccgggctaagtgctg	5	7	21	8	3	0	0	0	0	0	0	2	3	1	2	2	6	2	2	2	6	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:67235706C>T	ENST00000393997.2	+	11	1196	c.1139C>T	c.(1138-1140)tCg>tTg	p.S380L	ELMO3_ENST00000360833.1_Missense_Mutation_p.S363L|ELMO3_ENST00000477898.1_Missense_Mutation_p.S214L	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	327	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GGGGAGTCCTCGGGTGCCGGG	0.647													14	56					0	0	0	0	T	67235706	C	T	67235706	3	4	357	1	0	0	0	0	1	0	0	0	5105	893	31	1	1181	1	ELMO3	16	67235706	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	9217038	67235706	23119047	604	67896											
HSD11B2	3291	broad.mit.edu	37	chr16	67470617	67470617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatgggcagttcctgcactCgctacgcctggccatgtccg	5	9	12	15	3	0	0	0	0	0	0	3	0	2	0	4	2	2	5	4	2	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:67470617C>T	ENST00000326152.5	+	5	1061	c.929C>T	c.(928-930)tCg>tTg	p.S310L		NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	310					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	TTCCTGCACTCGCTACGCCTG	0.627													19	129					0	0	0	0	T	67470617	C	T	67470617	3	4	357	1	0	0	0	0	1	0	0	0	7427	893	31	1	947	1	HSD11B2	16	67470617	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	234911	67470617	22884136	605	67897											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67860627	67860627	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagatttcttcttcaatttCctggagcatcgctttgggcc	6	15	8	12	1	3	1	1	0	2	1	5	2	4	2	3	2	1	2	3	2	1	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:67860627C>T	ENST00000388833.3	+	12	1649	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	TSNAXIP1_ENST00000561639.1_Silent_p.F478F|TSNAXIP1_ENST00000415766.3_Silent_p.F409F	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	424					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TCTTCAATTTCCTGGAGCATC	0.483													35	112					0	0	0	0	T	67860627	C	T	67860627	2	4	357	1	0	0	0	0	0	0	0	1	16727	854	30	2		2	TSNAXIP1	16	67860627	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	390010	67860627	22494126	606	67898											
SMPD3	55512	broad.mit.edu	37	chr16	68404995	68404995	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgctcgcttgtcaaacacctCctgcaggcacaggaagtcca	10	8	9	14	1	1	0	1	0	0	0	4	1	3	1	3	2	3	4	3	2	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:68404995C>G	ENST00000219334.5	-	3	1693	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	SMPD3_ENST00000568373.1_Missense_Mutation_p.E364Q|SMPD3_ENST00000563226.1_Missense_Mutation_p.E364Q	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	364					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TCAAACACCTCCTGCAGGCAC	0.622													13	60					0	0	0	0	G	68404995	C	G	68404995	3	3	357	1	0	0	0	0	1	0	0	0	14894	864	30	2	905	2	SMPD3	16	68404995	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	544368	68404995	21949758	607	67899											
SNTB2	6645	broad.mit.edu	37	chr16	69333548	69333548	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcactatgaaaatgggttCaccatctcaagggaaaatgg	15	10	9	7	0	3	1	3	1	1	0	4	2	3	2	1	3	0	1	1	3	6	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:69333548C>T	ENST00000336278.4	+	6	1439	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F		NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	467						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)		AAAATGGGTTCACCATCTCAA	0.423													12	54					0	0	0	0	T	69333548	C	T	69333548	2	4	357	1	0	0	0	0	0	0	0	1	14961	825	29	2		2	SNTB2	16	69333548	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	928553	69333548	21021205	608	67900											
HYDIN	54768	broad.mit.edu	37	chr16	70926406	70926406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaatttatattaggtgttGaaatccctacagagtccacg	12	13	9	7	1	0	2	0	1	0	1	2	3	2	3	2	2	1	1	2	2	6	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:70926406G>A	ENST00000393567.2	-	56	9425	c.9275C>T	c.(9274-9276)tCa>tTa	p.S3092L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3092										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTAGGTGTTGAAATCCCTAC	0.428													7	40					0	0	0	0	A	70926406	G	A	70926406	3	1	357	1	0	0	0	0	1	0	0	0	7520	1294	45	2	6214	2	HYDIN	16	70926406	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1592858	70926406	19428347	609	67901											
PMFBP1	83449	broad.mit.edu	37	chr16	72184546	72184546	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttccccctgcaacatcttCacttggcattctagtaactc	9	13	5	14	0	3	0	1	0	2	0	5	0	4	0	2	1	3	4	2	1	3	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:72184546C>T	ENST00000537465.1	-	5	755	c.597G>A	c.(595-597)gtG>gtA	p.V199V	PMFBP1_ENST00000237353.10_Silent_p.V199V|PMFBP1_ENST00000355636.6_Silent_p.V54V			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	199										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)				GCAACATCTTCACTTGGCATT	0.532													40	199					0	0	0	0	T	72184546	C	T	72184546	2	4	357	1	0	0	0	0	0	0	0	1	12206	813	29	2		2	PMFBP1	16	72184546	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1258140	72184546	18170207	610	67902											
ZFHX3	463	broad.mit.edu	37	chr16	72828997	72828997	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactggtcacactggtagggGattagctgaggaggtaggtt	9	10	16	6	0	1	1	1	1	0	0	1	3	1	3	0	7	1	4	0	7	3	4	rs147845858		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:72828997G>A	ENST00000268489.5	-	9	8256	c.7584C>T	c.(7582-7584)atC>atT	p.I2528I	ZFHX3_ENST00000397992.5_Silent_p.I1614I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2528					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACTGGTAGGGGATTAGCTGAG	0.577													4	104					0	0	0	0	A	72828997	G	A	72828997	2	1	357	1	0	0	0	0	0	0	0	1	17729	1164	41	2		2	ZFHX3	16	72828997	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	644451	72828997	17525756	611	67903											
ATP2C2	9914	broad.mit.edu	37	chr16	84474551	84474551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attttccaatgtctcagtggGaaagttagtggaggtaggtg	10	13	14	4	0	1	0	1	0	1	0	3	2	2	2	1	4	0	2	1	4	4	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:84474551G>A	ENST00000416219.2	+	14	1387	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	ATP2C2_ENST00000262429.4_Missense_Mutation_p.G433E|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	433					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTCTCAGTGGGAAAGTTAGTG	0.493													5	23					0	0	0	0	A	84474551	G	A	84474551	3	1	357	1	0	0	0	0	1	0	0	0	1148	1174	41	2	1352	2	ATP2C2	16	84474551	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	11645554	84474551	5880202	612	67904											
SNAI3	333929	broad.mit.edu	37	chr16	88747560	88747560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggagaaggccttgccacaGatcttgcaggtgcagggcag	9	7	15	10	0	1	2	0	0	1	2	1	3	1	2	2	4	3	3	2	4	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:88747560G>A	ENST00000332281.5	-	2	725	c.639C>T	c.(637-639)atC>atT	p.I213I	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	213					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		CCTTGCCACAGATCTTGCAGG	0.617													10	150					0	0	0	0	A	88747560	G	A	88747560	2	1	357	1	0	0	0	0	0	0	0	1	14916	932	33	2		2	SNAI3	16	88747560	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4273009	88747560	1607193	613	67905											
ZNF276	92822	broad.mit.edu	37	chr16	89799803	89799803	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaagcccggatggaagaaGaagcttcgttgtgagaggtg	11	7	15	8	2	0	3	0	1	0	3	1	6	0	5	2	3	2	2	2	3	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:89799803G>C	ENST00000289816.5	+	7	1350	c.1038G>C	c.(1036-1038)aaG>aaC	p.K346N	ZNF276_ENST00000446326.2_Missense_Mutation_p.K207N|ZNF276_ENST00000443381.2_Missense_Mutation_p.K421N|ZNF276_ENST00000568064.1_Missense_Mutation_p.K329N	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GATGGAAGAAGAAGCTTCGTT	0.552													55	235					0	0	0	0	C	89799803	G	C	89799803	3	2	357	1	0	0	0	0	1	0	0	0	17906	933	33	2	1289	2	ZNF276	16	89799803	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1052243	89799803	554950	614	67906											
CYB5D2	124936	broad.mit.edu	37	chr17	4060257	4060257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgagaaccaccggccccCctagtggccagatgccggac	8	5	13	15	2	0	2	0	1	0	2	0	4	0	3	7	3	2	0	7	3	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4060257C>T	ENST00000301391.3	+	4	1176	c.676C>T	c.(676-678)Cct>Tct	p.P226S	CYB5D2_ENST00000575411.2_3'UTR|CYB5D2_ENST00000575251.1_Missense_Mutation_p.P114S|CYB5D2_ENST00000573984.1_Intron	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	226					nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						CACCGGCCCCCCTAGTGGCCA	0.607											OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	43					0	0	0	0	T	4060257	C	T	4060257	3	4	357	1	0	0	0	0	1	0	0	0	4157	623	22	4	690	4	CYB5D2	17	4060257	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08		4060257	77134953	615	67907											
MED11	400569	broad.mit.edu	37	chr17	4635168	4635168	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgcaacacgtggaggcGgagctgtcagctcagatccg	9	7	14	11	3	3	1	3	0	0	1	4	3	4	3	1	3	4	3	1	3	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4635168G>A	ENST00000293777.5	+	2	239	c.183G>A	c.(181-183)gcG>gcA	p.A61A	RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000573708.1_Silent_p.A61A|MED11_ENST00000575284.1_Silent_p.A61A	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	61					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(2)	4						ACGTGGAGGCGGAGCTGTCAG	0.597											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	47					0	0	0	0	A	4635168	G	A	4635168	2	1	357	1	0	0	0	0	0	0	0	1	9496	1103	39	1		1	MED11	17	4635168	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	574911	4635168	76560042	616	67908			1	106		5	5	7520	G		4.773027e-05
CXCL16	58191	broad.mit.edu	37	chr17	4638390	4638390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaaaggtccagtttacctgGagaggactgcggtgactgcc	9	9	13	10	1	1	2	1	1	0	1	2	4	2	3	3	4	3	1	3	4	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4638390G>A	ENST00000293778.6	-	4	1194	c.772C>T	c.(772-774)Cca>Tca	p.P258S	CXCL16_ENST00000574412.1_Missense_Mutation_p.P258S|CXCL16_ENST00000576153.1_5'UTR	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	239					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						AGTTTACCTGGAGAGGACTGC	0.607													11	50					0	0	0	0	A	4638390	G	A	4638390	3	1	357	1	0	0	0	0	1	0	0	0	4115	1174	41	2	57	2	CXCL16	17	4638390	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3222	4638390	76556820	617	67909			1	106		5	5	7520	G		4.773027e-05
CXCL16	58191	broad.mit.edu	37	chr17	4638451	4638451	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acataggaaagggctgcggtGaggatgaagatgatggccag	13	6	17	5	1	0	4	0	3	0	1	0	6	0	6	1	5	1	1	1	5	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4638451G>A	ENST00000293778.6	-	4	1133	c.711C>T	c.(709-711)ctC>ctT	p.L237L	CXCL16_ENST00000574412.1_Silent_p.L237L|CXCL16_ENST00000576153.1_5'UTR	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	218					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						GGGCTGCGGTGAGGATGAAGA	0.597													9	27					0	0	0	0	A	4638451	G	A	4638451	2	1	357	1	0	0	0	0	0	0	0	1	4115	1277	45	2		2	CXCL16	17	4638451	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	61	4638451	76556759	618	67910			1	106		5	5	7520	G		4.773027e-05
CXCL16	58191	broad.mit.edu	37	chr17	4638732	4638732	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgccccctctgaggcctGagaaattggggggctggtag	8	8	16	9	0	1	3	0	2	1	2	1	4	1	3	3	5	1	2	3	5	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4638732G>A	ENST00000293778.6	-	4	852	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	CXCL16_ENST00000574412.1_Nonsense_Mutation_p.Q144*|CXCL16_ENST00000576153.1_5'UTR	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	125					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						TCTGAGGCCTGAGAAATTGGG	0.547													8	39					0	0	0	0	A	4638732	G	A	4638732	4	1	357	1	0	0	0	0	0	1	0	0	4115	1299	45	2	399	2	CXCL16	17	4638732	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	281	4638732	76556478	619	67911			1	106		5	5	7520	G		4.773027e-05
CXCL16	58191	broad.mit.edu	37	chr17	4642687	4642687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcgctctgactcccaGacatgctccggcgcgtgacg	6	7	10	18	5	1	3	0	2	1	1	4	3	3	3	4	1	1	2	4	1	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4642687G>T	ENST00000293778.6	-	1	427	c.5C>A	c.(4-6)tCt>tAt	p.S2Y	CXCL16_ENST00000574412.1_Missense_Mutation_p.S2Y	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	0					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						CTGACTCCCAGACATGCTCCG	0.711													5	25					8.12818e-05	8.29678e-05	1	0	T	4642687	G	T	4642687	3	4	357	1	0	0	0	0	1	0	0	0	4115	942	33	2	836	2	CXCL16	17	4642687	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3955	4642687	76552523	620	67912			1	106		5	5	7520	G		4.773027e-05
TP53	7157	broad.mit.edu	37	chr17	7577543	7577543	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaggatgggcctccggttCatgccgcccatgcaggaact	7	8	14	12	2	1	1	1	1	0	0	2	3	2	3	4	4	3	2	4	4	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:7577543C>G	ENST00000420246.2	-	7	870	c.738G>C	c.(736-738)atG>atC	p.M246I	TP53_ENST00000455263.2_Missense_Mutation_p.M246I|TP53_ENST00000269305.4_Missense_Mutation_p.M246I|TP53_ENST00000413465.2_Missense_Mutation_p.M246I|TP53_ENST00000445888.2_Missense_Mutation_p.M246I|TP53_ENST00000359597.4_Missense_Mutation_p.M246I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M246I(24)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCTCCGGTTCATGCCGCCCA	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	43					0	0	0	0	G	7577543	C	G	7577543	3	3	357	1	0	0	0	0	1	0	0	0	16476	826	29	2	552	2	TP53	17	7577543	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2934856	7577543	73617667	621	67913											
CHD3	1107	broad.mit.edu	37	chr17	7800404	7800404	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttctgtgccctgctagctgGaaatcttccatttggttatg	6	17	9	9	0	2	0	0	0	2	0	3	1	3	1	2	2	3	3	2	2	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:7800404G>C	ENST00000380358.4	+	11	1889	c.1888G>C	c.(1888-1890)Gaa>Caa	p.E630Q	CHD3_ENST00000330494.7_Missense_Mutation_p.E571Q|CHD3_ENST00000358181.4_Missense_Mutation_p.E571Q	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	571					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CTGCTAGCTGGAAATCTTCCA	0.532													9	36					0	0	0	0	C	7800404	G	C	7800404	3	2	357	1	0	0	0	0	1	0	0	0	3355	1175	41	2	2034	2	CHD3	17	7800404	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	222861	7800404	73394806	622	67914											
CCDC42	146849	broad.mit.edu	37	chr17	8638800	8638800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatctcatcatccttttcctCcatgtagcgcgccagccggg	6	11	9	15	3	2	0	2	0	1	0	6	1	5	0	5	1	2	1	5	1	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:8638800C>T	ENST00000293845.3	-	5	848	c.622G>A	c.(622-624)Gag>Aag	p.E208K	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	208				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TCCTTTTCCTCCATGTAGCGC	0.592													7	52					0	0	0	0	T	8638800	C	T	8638800	3	4	357	1	0	0	0	0	1	0	0	0	2840	864	30	2	340	2	CCDC42	17	8638800	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	838396	8638800	72556410	623	67915											
MYH4	4622	broad.mit.edu	37	chr17	10362664	10362664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactcttcctgctccagcacGaacatgtggtggttgaaaaa	11	11	9	10	1	1	1	0	1	1	0	3	2	3	1	2	2	4	3	2	2	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:10362664G>A	ENST00000255381.2	-	15	1601	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	497	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCCAGCACGAACATGTGGT	0.483													20	112					0	0	0	0	A	10362664	G	A	10362664	2	1	357	1	0	0	0	0	0	0	0	1	10107	1049	37	1		1	MYH4	17	10362664	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1723864	10362664	70832546	624	67916											
MYO18A	399687	broad.mit.edu	37	chr17	27419947	27419947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccagcatgagctgggcatCtgccagcagggccttggtgc	6	8	15	12	0	1	1	0	1	1	0	2	1	2	1	3	3	5	4	3	3	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:27419947C>G	ENST00000527372.1	-	33	5179	c.4999G>C	c.(4999-5001)Gat>Cat	p.D1667H	MYO18A_ENST00000533112.1_Missense_Mutation_p.D1630H|MYO18A_ENST00000531253.1_Missense_Mutation_p.D1667H|MYO18A_ENST00000354329.4_Missense_Mutation_p.D1667H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1667					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGCTGGGCATCTGCCAGCAGG	0.602													19	84					0	0	0	0	G	27419947	C	G	27419947	3	3	357	1	0	0	0	0	1	0	0	0	10135	913	32	2	1205	2	MYO18A	17	27419947	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	17057283	27419947	53775263	625	67917											
ADAP2	55803	broad.mit.edu	37	chr17	29283366	29283366	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcgctggaaagccggactCaccattgtcaccccagagcg	11	6	10	14	3	2	1	2	0	0	1	3	3	2	3	4	2	2	1	4	2	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:29283366C>T	ENST00000330889.3	+	10	1325	c.990C>T	c.(988-990)ctC>ctT	p.L330L	ADAP2_ENST00000580525.1_Silent_p.L336L|AC091177.1_ENST00000442757.1_RNA	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	330	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AAGCCGGACTCACCATTGTCA	0.567													12	60					0	0	0	0	T	29283366	C	T	29283366	2	4	357	1	0	0	0	0	0	0	0	1	280	813	29	2		2	ADAP2	17	29283366	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1863419	29283366	51911844	626	67918											
AP2B1	163	broad.mit.edu	37	chr17	33998857	33998857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtcagcagtggactgaatGacctgtttgaactctccaca	10	11	10	10	0	2	3	1	3	1	0	3	4	2	4	2	2	2	2	2	2	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:33998857G>A	ENST00000262325.7	+	15	2627	c.2074G>A	c.(2074-2076)Gac>Aac	p.D692N	AP2B1_ENST00000589344.1_Missense_Mutation_p.D706N|AP2B1_ENST00000537622.2_Missense_Mutation_p.D706N|AP2B1_ENST00000312678.8_Missense_Mutation_p.D706N|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000538556.1_Missense_Mutation_p.D635N|AP2B1_ENST00000592545.1_Missense_Mutation_p.D668N	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	692	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGGACTGAATGACCTGTTTGA	0.478													29	105					0	0	0	0	A	33998857	G	A	33998857	3	1	357	1	0	0	0	0	1	0	0	0	742	1290	45	2	2174	2	AP2B1	17	33998857	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4715491	33998857	47196353	627	67919											
PIGW	284098	broad.mit.edu	37	chr17	34893953	34893953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaccgatcacatatcaaaGacttgataaaagtagcctgt	17	9	7	8	1	2	3	2	1	0	2	2	4	2	3	2	0	2	1	2	0	6	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:34893953G>A	ENST00000592983.1	+	2	1583	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	PIGW_ENST00000328396.2_Missense_Mutation_p.D335N|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	335					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACATATCAAAGACTTGATAAA	0.398													9	44					0	0	0	0	A	34893953	G	A	34893953	3	1	357	1	0	0	0	0	1	0	0	0	11974	942	33	2	1005	2	PIGW	17	34893953	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	895096	34893953	46301257	628	67920											
ACACA	31	broad.mit.edu	37	chr17	35634007	35634007	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accccagccagcccacactgCctgcaagggaatacaatata	14	5	7	15	0	0	0	0	0	0	0	0	1	0	1	5	1	5	1	5	1	6	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:35634007C>A	ENST00000353139.5	-	7	1202	c.720_splice	c.e7-1	p.A241_splice	ACACA_ENST00000394406.2_Splice_Site_p.A204_splice|ACACA_ENST00000360679.3_Splice_Site_p.A146_splice|ACACA_ENST00000335166.5_Splice_Site_p.A126_splice	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	204	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCCCACACTGCCTGCAAGGGA	0.448													24	94					1.10513e-12	1.16232e-12	1	0	A	35634007	C	A	35634007	5	1	357	1	0	0	0	0	0	0	1	0	106	753	26	4	6630	4	ACACA	17	35634007	Splice_Site	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	740054	35634007	45561203	629	67921											
SYNRG	11276	broad.mit.edu	37	chr17	35902354	35902354	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatattccttttgctcactGgtctgaggaatcgtgtcttt	6	18	8	9	1	4	1	2	1	2	0	6	2	5	2	1	2	1	1	1	2	2	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:35902354G>C	ENST00000339208.6	-	15	3062	c.2922C>G	c.(2920-2922)acC>acG	p.T974T	SYNRG_ENST00000591288.1_Silent_p.T768T|SYNRG_ENST00000346661.4_Silent_p.T974T|SYNRG_ENST00000345615.4_Silent_p.T896T|SYNRG_ENST00000585472.1_Silent_p.T895T|SYNRG_ENST00000502449.2_Silent_p.T851T|SYNRG_ENST00000394378.2_Silent_p.T896T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	974					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTTGCTCACTGGTCTGAGGAA	0.483													24	75					0	0	0	0	C	35902354	G	C	35902354	2	2	357	1	0	0	0	0	0	0	0	1	15551	1335	47	4		4	SYNRG	17	35902354	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	268347	35902354	45292856	630	67922											
MED1	5469	broad.mit.edu	37	chr17	37599807	37599807	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagtgttcacaaacctttGagagccttctgcaatgtctc	12	12	7	10	0	3	1	1	1	2	1	4	2	3	1	2	0	3	2	2	0	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:37599807G>C	ENST00000300651.6	-	3	430	c.207C>G	c.(205-207)ctC>ctG	p.L69L	MED1_ENST00000394287.3_Silent_p.L69L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	69	Interaction with ESR1.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACAAACCTTTGAGAGCCTTCT	0.403										HNSCC(31;0.082)			7	51					0	0	0	0	C	37599807	G	C	37599807	2	2	357	1	0	0	0	0	0	0	0	1	9494	1277	45	2		2	MED1	17	37599807	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1697453	37599807	43595403	631	67923											
TNS4	84951	broad.mit.edu	37	chr17	38640807	38640807	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaaggagcctcggtatgaaGagctgtcccttatgacaaaa	13	8	11	9	2	0	3	0	2	0	1	2	5	1	4	2	2	2	2	2	2	6	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:38640807G>C	ENST00000254051.6	-	6	1588	c.1430C>G	c.(1429-1431)tCt>tGt	p.S477C		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	477	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCGGTATGAAGAGCTGTCCCT	0.582													12	54					0	0	0	0	C	38640807	G	C	38640807	3	2	357	1	0	0	0	0	1	0	0	0	16439	942	33	2	749	2	TNS4	17	38640807	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1041000	38640807	42554403	632	67924											
KRT39	390792	broad.mit.edu	37	chr17	39120018	39120018	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctaccagctggcgtagaGacacctcagcttcgtatctt	9	11	8	13	2	3	1	1	0	2	1	4	2	3	1	2	1	3	4	2	1	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:39120018G>C	ENST00000355612.2	-	3	604	c.569C>G	c.(568-570)tCt>tGt	p.S190C	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	190	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTGGCGTAGAGACACCTCAGC	0.498													11	50					0	0	0	0	C	39120018	G	C	39120018	3	2	357	1	0	0	0	0	1	0	0	0	8528	942	33	2	926	2	KRT39	17	39120018	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	479211	39120018	42075192	633	67925											
KRT33A	3883	broad.mit.edu	37	chr17	39506982	39506982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgggaggagcagctggtgCggcagctcaggctgggcagg	6	4	21	10	2	1	0	1	0	0	0	1	2	1	2	1	7	4	6	1	7	0	0	rs143698304	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:39506982C>T	ENST00000007735.3	-	1	82	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	13	Head.					intermediate filament	protein binding|structural molecule activity	p.R13H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCAGCTGGTGCGGCAGCTCAG	0.642													11	47					0	0	0	0	T	39506982	C	T	39506982	3	4	357	1	0	0	0	0	1	0	0	0	8521	768	27	1	1204	1	KRT33A	17	39506982	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	386964	39506982	41688228	634	67926											
KRT9	3857	broad.mit.edu	37	chr17	39726123	39726123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacctacctccttatgattCttcttgagggccatcagctc	8	13	6	14	0	3	2	1	2	2	0	5	2	4	2	4	1	3	1	4	1	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:39726123C>T	ENST00000246662.4	-	3	935	c.870G>A	c.(868-870)aaG>aaA	p.K290K	KRT9_ENST00000588431.1_Silent_p.K57K	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	290	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCTTATGATTCTTCTTGAGGG	0.542													24	127					0	0	0	0	T	39726123	C	T	39726123	2	4	357	1	0	0	0	0	0	0	0	1	8553	912	32	2		2	KRT9	17	39726123	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	219141	39726123	41469087	635	67927											
AOC2	314	broad.mit.edu	37	chr17	40997568	40997568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtcctcttccccctcttCagttctcgccccagggttcc	3	12	7	19	1	4	0	1	0	3	0	8	0	7	0	6	2	0	2	6	2	0	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:40997568C>G	ENST00000253799.3	+	1	952	c.925C>G	c.(925-927)Cag>Gag	p.Q309E	AOC2_ENST00000452774.2_Missense_Mutation_p.Q309E	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	309					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCCCCCTCTTCAGTTCTCGCC	0.562													21	65					0	0	0	0	G	40997568	C	G	40997568	3	3	357	1	0	0	0	0	1	0	0	0	728	827	29	2	927	2	AOC2	17	40997568	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1271445	40997568	40197642	636	67928											
RPL27	6155	broad.mit.edu	37	chr17	41154916	41154916	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggcaagaacaagtggttCttccagaaactgcggtttta	13	10	10	8	1	1	2	0	0	1	2	2	2	2	2	1	3	3	3	1	3	5	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:41154916C>T	ENST00000589913.1	+	4	664	c.390C>T	c.(388-390)ttC>ttT	p.F130F	RPL27_ENST00000590864.1_Silent_p.F74F|RPL27_ENST00000589037.1_Silent_p.F130F|RPL27_ENST00000253788.5_Silent_p.F130F			P61353	RL27_HUMAN	ribosomal protein L27	130					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		ACAAGTGGTTCTTCCAGAAAC	0.368													5	185					0	0	0	0	T	41154916	C	T	41154916	2	4	357	1	0	0	0	0	0	0	0	1	13660	912	32	2		2	RPL27	17	41154916	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	157348	41154916	40040294	637	67929											
BRCA1	672	broad.mit.edu	37	chr17	41251814	41251814	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattcaatgtagacagacgtCttttgaggttgtatccgctg	10	14	10	7	2	2	3	1	1	1	2	3	3	3	3	1	1	0	4	1	1	4	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:41251814C>G	ENST00000357654.3	-	7	643	c.525G>C	c.(523-525)aaG>aaC	p.K175N	BRCA1_ENST00000493795.1_Missense_Mutation_p.K128N|BRCA1_ENST00000351666.3_Missense_Mutation_p.K175N|BRCA1_ENST00000346315.3_Missense_Mutation_p.K175N|BRCA1_ENST00000468300.1_Missense_Mutation_p.K175N|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000491747.2_Missense_Mutation_p.K175N|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.K175N|BRCA1_ENST00000354071.3_Missense_Mutation_p.K175N|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.K175N	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	175					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.K175N(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGACAGACGTCTTTTGAGGTT	0.383			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			13	79					0	0	0	0	G	41251814	C	G	41251814	3	3	357	1	0	0	0	0	1	0	0	0	1506	912	32	2	5204	2	BRCA1	17	41251814	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	96898	41251814	39943396	638	67930											
GFAP	2670	broad.mit.edu	37	chr17	42987581	42987581	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgtattgtgaggcttttgaGatatcttgtgaccttgtgat	7	18	11	5	1	1	4	0	4	1	1	2	5	1	4	1	1	0	2	1	1	2	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:42987581G>C	ENST00000435360.2	-	8	1226	c.1219C>G	c.(1219-1221)Ctc>Gtc	p.L407V	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000253408.5_Intron	NM_001131019.2|NM_001242376.1	NP_001124491.1|NP_001229305.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	405	Tail.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				AGGCTTTTGAGATATCTTGTG	0.483													29	151					0	0	0	0	C	42987581	G	C	42987581	3	2	357	1	0	0	0	0	1	0	0	0	6388	942	33	2	216	2	GFAP	17	42987581	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1735767	42987581	38207629	639	67931											
NMT1	4836	broad.mit.edu	37	chr17	43159031	43159031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtttgagtccagccaatGacactggagccaaaaagaag	14	7	12	8	0	0	3	0	2	0	1	1	4	1	4	3	2	2	1	3	2	4	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:43159031G>A	ENST00000592782.1	+	3	282	c.151G>A	c.(151-153)Gac>Aac	p.D51N	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.D51N			P30419	NMT1_HUMAN	N-myristoyltransferase 1	51					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCCAGCCAATGACACTGGAGC	0.398													5	31					0	0	0	0	A	43159031	G	A	43159031	3	1	357	1	0	0	0	0	1	0	0	0	10573	1290	45	2	157	2	NMT1	17	43159031	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	171450	43159031	38036179	640	67932											
ARHGAP27	201176	broad.mit.edu	37	chr17	43475401	43475401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcaggtactcagagccatCtcggctccgtagctggaggg	8	8	14	11	2	3	1	2	0	1	1	5	3	4	2	2	4	3	4	2	4	2	2	rs146394827		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:43475401C>T	ENST00000532038.1	-	9	1225	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	ARHGAP27_ENST00000442348.1_Missense_Mutation_p.D559N|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.D245N|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.D564N|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.D586N|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.D245N|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.D218N			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	586					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TCAGAGCCATCTCGGCTCCGT	0.592													4	69					0	0	0	0	T	43475401	C	T	43475401	3	4	357	1	0	0	0	0	1	0	0	0	878	913	32	2	945	2	ARHGAP27	17	43475401	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	316370	43475401	37719809	641	67933											
ATP5G1	516	broad.mit.edu	37	chr17	46973029	46973029	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcccaggaacccgtctctCaagcagcagctcttctccta	8	9	6	18	1	4	0	1	0	3	0	7	1	5	1	4	1	4	3	4	1	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:46973029C>G	ENST00000393366.2	+	5	412	c.309C>G	c.(307-309)ctC>ctG	p.L103L	ATP5G1_ENST00000355938.5_Silent_p.L103L|ATP5G1_ENST00000506855.1_Silent_p.L77L|ATP5G1_ENST00000513781.1_3'UTR|RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000503641.1_Silent_p.L94L	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)	103					ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			liver(1)|lung(1)	2						ACCCGTCTCTCAAGCAGCAGC	0.572													59	206					0	0	0	0	G	46973029	C	G	46973029	2	3	357	1	0	0	0	0	0	0	0	1	1157	813	29	2		2	ATP5G1	17	46973029	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3497628	46973029	34222181	642	67934											
MRPL27	51264	broad.mit.edu	37	chr17	48450508	48450508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaccggctgtccgggtcctCagcgccaacaccaccgacgc	7	6	10	18	5	1	0	1	0	0	0	3	1	3	0	6	2	3	1	6	2	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:48450508C>T	ENST00000442592.3	-	1	60	c.24G>A	c.(22-24)ctG>ctA	p.L8L	MRPL27_ENST00000225969.4_Silent_p.L8L|MRPL27_ENST00000503633.1_Silent_p.L8L			Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	8					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			TCCGGGTCCTCAGCGCCAACA	0.607													8	55					0	0	0	0	T	48450508	C	T	48450508	2	4	357	1	0	0	0	0	0	0	0	1	9861	813	29	2		2	MRPL27	17	48450508	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1477479	48450508	32744702	643	67935											
CACNA1G	8913	broad.mit.edu	37	chr17	48655695	48655695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgcctgactcagacagcGaggcagtttatgagttcaca	13	9	10	9	1	2	3	2	2	0	1	2	4	2	3	1	1	2	3	1	1	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:48655695G>A	ENST00000352832.5	+	9	2443	c.2071G>A	c.(2071-2073)Gag>Aag	p.E691K	CACNA1G_ENST00000512389.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E691K|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E691K|CACNA1G_ENST00000359106.5_Missense_Mutation_p.E691K|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E691K|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000416767.4_Missense_Mutation_p.E691K|CACNA1G_ENST00000515165.1_Missense_Mutation_p.E691K	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	691					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCAGACAGCGAGGCAGTTTA	0.667													19	58					0	0	0	0	A	48655695	G	A	48655695	3	1	357	1	0	0	0	0	1	0	0	0	2569	1059	37	1	2105	1	CACNA1G	17	48655695	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	205187	48655695	32539515	644	67936											
CACNA1G	8913	broad.mit.edu	37	chr17	48696166	48696166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctggaggagagcaacaagGaggccaaggaggaggccgag	14	1	18	8	1	0	1	0	0	0	1	0	7	0	5	3	7	2	1	3	7	3	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:48696166G>A	ENST00000352832.5	+	31	5848	c.5476G>A	c.(5476-5478)Gag>Aag	p.E1826K	CACNA1G_ENST00000512389.1_Missense_Mutation_p.E1849K|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E1837K|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E1826K|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E1808K|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E1826K|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E1819K|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E1849K|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E1842K|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E1860K|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E1835K|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E1853K|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E1837K|CACNA1G_ENST00000359106.5_Missense_Mutation_p.E1860K|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E1826K|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E1867K|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E1849K|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E1815K|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E1849K|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E1860K|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E1842K|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E1815K|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E1826K|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E1803K|CACNA1G_ENST00000515165.1_Missense_Mutation_p.E1860K	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1860					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGCAACAAGGAGGCCAAGGA	0.622													11	52					0	0	0	0	A	48696166	G	A	48696166	3	1	357	1	0	0	0	0	1	0	0	0	2569	1175	41	2	5975	2	CACNA1G	17	48696166	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	40471	48696166	32499044	645	67937											
NOG	9241	broad.mit.edu	37	chr17	54671879	54671879	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggtgcagctgggggcgcgGaggacctggcggagctggac	5	4	23	9	3	0	0	0	0	0	0	0	4	0	4	1	9	3	3	1	9	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:54671879G>T	ENST00000332822.4	+	1	820	c.295G>T	c.(295-297)Gag>Tag	p.E99*		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	99					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					TGGGGGCGCGGAGGACCTGGC	0.751													3	11					0.115264	0.115884	1	0	T	54671879	G	T	54671879	4	4	357	1	0	0	0	0	0	1	0	0	10589	1175	41	2	297	2	NOG	17	54671879	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	5975713	54671879	26523331	646	67938											
TRIM25	7706	broad.mit.edu	37	chr17	54990842	54990842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagatgcactcgctgtgctCggggcagaaaaattcccgca	10	7	12	12	3	0	2	0	0	0	2	3	2	1	2	1	2	2	6	1	2	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:54990842C>T	ENST00000316881.4	-	1	557	c.508G>A	c.(508-510)Gag>Aag	p.E170K	TRIM25_ENST00000537230.1_Missense_Mutation_p.E170K	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	170					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TCGCTGTGCTCGGGGCAGAAA	0.657													15	49					0	0	0	0	T	54990842	C	T	54990842	3	4	357	1	0	0	0	0	1	0	0	0	16594	893	31	1	1420	1	TRIM25	17	54990842	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	318963	54990842	26204368	647	67939											
VEZF1	7716	broad.mit.edu	37	chr17	56058054	56058054	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgtatgctgcactcaGgagcttcccacagatgttac	9	11	11	10	0	1	2	1	1	0	1	2	3	2	3	1	2	4	5	1	2	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:56058054G>A	ENST00000584396.1	-	4	947	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	VEZF1_ENST00000581208.1_Silent_p.L296L			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	296					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCTGCACTCAGGAGCTTCCCA	0.488													15	62					0	0	0	0	A	56058054	G	A	56058054	2	1	357	1	0	0	0	0	0	0	0	1	17251	991	35	4		4	VEZF1	17	56058054	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1067212	56058054	25137156	648	67940											
EPX	8288	broad.mit.edu	37	chr17	56270489	56270489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcctacaattggacccagaAgaggtggacttgggtctggg	9	9	15	8	0	1	2	0	0	1	2	1	4	1	4	2	5	2	0	2	5	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:56270489A>G	ENST00000225371.5	+	2	277	c.167A>G	c.(166-168)aAg>aGg	p.K56R		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	56					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TGGACCCAGAAGAGGTGGACT	0.612													24	65					0	0	0	0	G	56270489	A	G	56270489	3	3	357	1	0	0	0	0	1	0	0	0	5238	72	3	5	173	5	EPX	17	56270489	Missense_Mutation	SNP	A	TCGA-CV-A6K2-01A-11D-A31L-08	212435	56270489	24924721	649	67941											
BRIP1	83990	broad.mit.edu	37	chr17	59761219	59761219	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	attgagggcatgatccaaacGatgtgtttactgtcagattt	11	14	10	6	1	1	3	1	2	0	1	2	4	2	3	1	1	2	2	1	1	2	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:59761219G>C	ENST00000259008.2	-	20	3455	c.3188C>G	c.(3187-3189)tCg>tGg	p.S1063W		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1063	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TGATCCAAACGATGTGTTTAC	0.388			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					20	138					0	0	0	0	C	59761219	G	C	59761219	3	2	357	1	0	0	0	0	1	0	0	0	1522	1059	37	3	565	3	BRIP1	17	59761219	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3490730	59761219	21433991	650	67942											
FTSJ3	117246	broad.mit.edu	37	chr17	61899169	61899169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggattctcctcctcctcctCctctttatcatcttgcactt	4	18	3	16	0	4	0	1	0	3	0	9	1	8	1	5	1	1	1	5	1	1	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:61899169C>T	ENST00000427159.2	-	15	2155	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	504					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCCTCCTCCTCCTCTTTATCA	0.527													19	154					0	0	0	0	T	61899169	C	T	61899169	3	4	357	1	0	0	0	0	1	0	0	0	6137	864	30	2	1061	2	FTSJ3	17	61899169	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2137950	61899169	19296041	651	67943											
SCN4A	6329	broad.mit.edu	37	chr17	62034549	62034549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccgatgaccatgaccatGaggaagacggtgaggcacat	12	7	13	9	2	0	5	0	4	0	1	0	7	0	6	3	3	1	1	3	3	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:62034549G>A	ENST00000578147.1	-	13	2425	c.2349C>T	c.(2347-2349)ctC>ctT	p.L783L	SCN4A_ENST00000435607.1_Silent_p.L783L			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	783					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCATGACCATGAGGAAGACGG	0.587													17	58					0	0	0	0	A	62034549	G	A	62034549	2	1	357	1	0	0	0	0	0	0	0	1	14007	1277	45	2		2	SCN4A	17	62034549	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	135380	62034549	19160661	652	67944											
SCN4A	6329	broad.mit.edu	37	chr17	62041913	62041913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttatcctcggccagggtgGcctcattctgctcggcatat	5	12	10	14	2	2	0	1	0	1	0	5	0	3	0	4	4	1	2	4	4	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:62041913G>T	ENST00000578147.1	-	9	1443	c.1367C>A	c.(1366-1368)gCc>gAc	p.A456D	SCN4A_ENST00000435607.1_Missense_Mutation_p.A456D			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	456					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGCCAGGGTGGCCTCATTCTG	0.522													12	30					5.50884e-06	5.66018e-06	1	0	T	62041913	G	T	62041913	3	4	357	1	0	0	0	0	1	0	0	0	14007	1203	42	4	4207	4	SCN4A	17	62041913	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	7364	62041913	19153297	653	67945											
POLG2	11232	broad.mit.edu	37	chr17	62492767	62492767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgcggccaggttcttcCgcaactctacgcccaagggt	7	10	10	14	3	3	0	0	0	3	0	4	0	4	0	3	3	3	2	3	3	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:62492767C>T	ENST00000539111.2	-	1	387	c.320G>A	c.(319-321)cGg>cAg	p.R107Q		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	107					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CAGGTTCTTCCGCAACTCTAC	0.602													25	93					0	0	0	0	T	62492767	C	T	62492767	3	4	357	1	0	0	0	0	1	0	0	0	12273	652	23	1	1169	1	POLG2	17	62492767	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	450854	62492767	18702443	654	67946											
BPTF	2186	broad.mit.edu	37	chr17	65907895	65907895	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctgataccgtgtctattCaggatagcagtgaagaagat	12	12	11	6	1	3	4	1	2	2	2	3	5	3	5	1	1	2	2	1	1	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:65907895C>T	ENST00000321892.4	+	13	4334	c.4273C>T	c.(4273-4275)Cag>Tag	p.Q1425*	BPTF_ENST00000306378.6_Nonsense_Mutation_p.Q1299*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.Q1425*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.Q1286*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1425					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CGTGTCTATTCAGGATAGCAG	0.403													13	85					0	0	0	0	T	65907895	C	T	65907895	4	4	357	1	0	0	0	0	0	1	0	0	1503	827	29	2	4323	2	BPTF	17	65907895	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3415128	65907895	15287315	655	67947											
SDK2	54549	broad.mit.edu	37	chr17	71344785	71344785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccgtcaggctgctgctctCtgcagggatgaggtcgttgt	4	12	14	11	2	2	1	1	1	1	0	5	2	3	2	1	3	3	5	1	3	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:71344785C>T	ENST00000392650.3	-	44	6118	c.6118G>A	c.(6118-6120)Gag>Aag	p.E2040K	SDK2_ENST00000388726.3_Missense_Mutation_p.E2021K|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2040					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						CTGCTGCTCTCTGCAGGGATG	0.647													8	47					0	0	0	0	T	71344785	C	T	71344785	3	4	357	1	0	0	0	0	1	0	0	0	14056	922	32	2	408	2	SDK2	17	71344785	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	5436890	71344785	9850425	656	67948											
EVPL	2125	broad.mit.edu	37	chr17	74005481	74005481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccttcaggcggtcgatctCacgcagcacctcggggctcc	6	7	12	16	4	2	0	2	0	1	0	6	1	3	0	3	4	2	3	3	4	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:74005481C>T	ENST00000301607.3	-	22	4058	c.3805G>A	c.(3805-3807)Gag>Aag	p.E1269K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1291K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1269	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGGTCGATCTCACGCAGCACC	0.672													30	108					0	0	0	0	T	74005481	C	T	74005481	3	4	357	1	0	0	0	0	1	0	0	0	5330	835	29	2	2300	2	EVPL	17	74005481	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2660696	74005481	7189729	657	67949											
PRPSAP1	5635	broad.mit.edu	37	chr17	74308953	74308953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttagaagcagcctgacctCgtctacggaggactcctcaa	11	9	9	12	2	2	2	1	1	1	1	4	4	3	4	3	2	3	1	3	2	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:74308953C>T	ENST00000446526.3	-	9	1442	c.997G>A	c.(997-999)Gag>Aag	p.E333K	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.E230K|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	304					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						AGCCTGACCTCGTCTACGGAG	0.453													21	84					0	0	0	0	T	74308953	C	T	74308953	3	4	357	1	0	0	0	0	1	0	0	0	12661	893	31	1	168	1	PRPSAP1	17	74308953	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	303472	74308953	6886257	658	67950											
DNAH17	8632	broad.mit.edu	37	chr17	76420119	76420119	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgggacactcatagatgttCttggtctccatgcggtccac	8	11	10	12	2	3	1	1	0	2	1	5	2	4	2	2	3	1	1	2	3	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:76420119C>T	ENST00000389840.5	-	81	13450	c.13326G>A	c.(13324-13326)aaG>aaA	p.K4442K	PGS1_ENST00000588281.1_Intron|PGS1_ENST00000329897.7_Intron|DNAH17_ENST00000586052.1_5'UTR|PGS1_ENST00000262764.6_Intron|DNAH17_ENST00000585328.1_Silent_p.K4414K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATAGATGTTCTTGGTCTCCA	0.552													29	126					0	0	0	0	T	76420119	C	T	76420119	2	4	357	1	0	0	0	0	0	0	0	1	4638	912	32	2		2	DNAH17	17	76420119	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2111166	76420119	4775091	659	67951											
DNAH17	8632	broad.mit.edu	37	chr17	76568947	76568947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggccatccagccatgttCtcactttggtttaacagaga	9	12	10	10	0	1	1	1	0	1	1	3	2	2	1	3	3	2	2	3	3	1	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:76568947C>T	ENST00000389840.5	-	3	499	c.375G>A	c.(373-375)gaG>gaA	p.E125E	DNAH17_ENST00000585328.1_Silent_p.E125E					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGCCATGTTCTCACTTTGGT	0.527													7	32					0	0	0	0	T	76568947	C	T	76568947	2	4	357	1	0	0	0	0	0	0	0	1	4638	912	32	2		2	DNAH17	17	76568947	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	148828	76568947	4626263	660	67952											
CYTH1	9267	broad.mit.edu	37	chr17	76688531	76688531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtagtaaaggcagttgtCagtcagaatgaaccagcgtc	15	8	11	7	1	2	2	2	1	0	1	3	2	2	2	1	1	2	4	1	1	6	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:76688531C>T	ENST00000589297.1	-	11	1374	c.682G>A	c.(682-684)Gac>Aac	p.D228N	CYTH1_ENST00000446868.3_Missense_Mutation_p.D287N|CYTH1_ENST00000361101.4_Missense_Mutation_p.D287N|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000585509.1_Missense_Mutation_p.D228N|CYTH1_ENST00000591455.1_Missense_Mutation_p.D286N|CYTH1_ENST00000589296.1_Intron			Q15438	CYH1_HUMAN	cytohesin 1	287					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGGCAGTTGTCAGTCAGAATG	0.517													39	155					0	0	0	0	T	76688531	C	T	76688531	3	4	357	1	0	0	0	0	1	0	0	0	4235	826	29	2	353	2	CYTH1	17	76688531	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	119584	76688531	4506679	661	67953											
ENPP7	339221	broad.mit.edu	37	chr17	77710960	77710960	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctggaggtggagccctttGagagcgtccacgtgtacgag	7	8	16	10	3	0	1	0	1	0	1	1	5	1	3	3	3	3	1	3	3	1	2	rs147161136		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:77710960G>C	ENST00000328313.5	+	4	1368	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	383					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGCCCTTTGAGAGCGTCCA	0.622													18	60					0	0	0	0	C	77710960	G	C	77710960	3	2	357	1	0	0	0	0	1	0	0	0	5173	1291	45	2	1161	2	ENPP7	17	77710960	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1022429	77710960	3484250	662	67954											
CBX8	57332	broad.mit.edu	37	chr17	77769917	77769917	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccatagagctccatctctCtttccctggagaaagaagaa	12	9	9	11	0	2	4	0	0	2	4	5	5	4	4	3	2	1	1	3	2	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:77769917C>G	ENST00000269385.4	-	4	302	c.185G>C	c.(184-186)aGa>aCa	p.R62T	CBX8_ENST00000485449.1_5'UTR	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	62	Chromo.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCCATCTCTCTTTCCCTGGA	0.488													4	245					0	0	0	0	G	77769917	C	G	77769917	3	3	357	1	0	0	0	0	1	0	0	0	2749	912	32	2	967	2	CBX8	17	77769917	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	58957	77769917	3425293	663	67955											
RNF213	57674	broad.mit.edu	37	chr17	78286925	78286925	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttttacaaagaacatgctCacatcttcaggtgcctcatt	11	14	6	10	0	4	1	3	0	1	1	4	1	4	1	1	1	4	2	1	1	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:78286925C>T	ENST00000582970.1	+	15	2912	c.2769C>T	c.(2767-2769)ctC>ctT	p.L923L	RNF213_ENST00000508628.2_Silent_p.L972L|RNF213_ENST00000319921.4_Silent_p.L923L|RNF213_ENST00000456466.1_Silent_p.L923L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	923										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAACATGCTCACATCTTCAG	0.463													21	99					0	0	0	0	T	78286925	C	T	78286925	2	4	357	1	0	0	0	0	0	0	0	1	13562	813	29	2		2	RNF213	17	78286925	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	517008	78286925	2908285	664	67956											
CCDC57	284001	broad.mit.edu	37	chr17	80121215	80121215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacagaccctccggcttgaCcagcttgggcagaccctcct	7	7	11	16	1	0	3	0	1	0	2	2	4	2	4	5	3	1	3	5	3	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:80121215C>T	ENST00000392347.1	-	13	1937	c.1901G>A	c.(1900-1902)gGt>gAt	p.G634D	CCDC57_ENST00000389641.4_Missense_Mutation_p.G634D|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.G634D	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	634										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCCGGCTTGACCAGCTTGGGC	0.562													11	69					0	0	0	0	T	80121215	C	T	80121215	3	4	357	1	0	0	0	0	1	0	0	0	2854	507	18	4	866	4	CCDC57	17	80121215	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1834290	80121215	1073995	665	67957											
TBCD	6904	broad.mit.edu	37	chr17	80726331	80726331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacatgcttttgctctggctCtccgtgacctgcctgatccc	4	14	8	15	1	2	2	0	2	2	0	4	2	3	2	4	1	4	3	4	1	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:80726331C>T	ENST00000355528.4	+	5	601	c.471C>T	c.(469-471)ctC>ctT	p.L157L	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.L157L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	157					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGCTCTGGCTCTCCGTGACCT	0.502													56	245					0	0	0	0	T	80726331	C	T	80726331	2	4	357	1	0	0	0	0	0	0	0	1	15727	900	32	2		2	TBCD	17	80726331	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	605116	80726331	468879	666	67958											
ANKRD12	23253	broad.mit.edu	37	chr18	9195667	9195667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttttactattagcccatCaagaaatgaagaacgagatt	15	12	6	8	1	1	4	1	1	0	3	2	5	2	4	2	0	3	0	2	0	7	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:9195667C>T	ENST00000383440.2	+	3	463	c.206C>T	c.(205-207)tCa>tTa	p.S69L	ANKRD12_ENST00000262126.3_Missense_Mutation_p.S69L|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S69L|ANKRD12_ENST00000540578.2_3'UTR	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	69						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATTAGCCCATCAAGAAATGAA	0.358													10	34					0	0	0	0	T	9195667	C	T	9195667	3	4	357	1	0	0	0	0	1	0	0	0	640	838	29	2	212	2	ANKRD12	18	9195667	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08		9195667	68881581	667	67959											
ABHD3	171586	broad.mit.edu	37	chr18	19283684	19283684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaagcggctgaaactctCacccccggtcactaactggg	11	6	11	13	2	2	1	2	1	1	0	3	2	2	2	2	4	3	1	2	4	4	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:19283684C>T	ENST00000289119.2	-	2	326	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000580981.1_Missense_Mutation_p.E63K|ABHD3_ENST00000578270.1_5'UTR	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	63						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CTGAAACTCTCACCCCCGGTC	0.547													15	64					0	0	0	0	T	19283684	C	T	19283684	3	4	357	1	0	0	0	0	1	0	0	0	83	835	29	2	1074	2	ABHD3	18	19283684	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	10088017	19283684	58793564	668	67960											
LAMA3	3909	broad.mit.edu	37	chr18	21355845	21355845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttccacggagacaactgtGagaagtgtgcaattggatac	13	10	11	7	1	0	2	0	1	0	2	1	5	1	3	1	2	3	1	1	2	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:21355845G>A	ENST00000313654.9	+	10	1604	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E455K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	455	Domain V.|Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGACAACTGTGAGAAGTGTGC	0.493													15	61					0	0	0	0	A	21355845	G	A	21355845	3	1	357	1	0	0	0	0	1	0	0	0	8660	1291	45	2	1401	2	LAMA3	18	21355845	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2072161	21355845	56721403	669	67961											
LAMA3	3909	broad.mit.edu	37	chr18	21422397	21422397	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacgtgtaccacacctgggCcgatacgtctttgtcatcca	8	10	10	13	3	2	0	1	0	1	0	3	2	3	1	4	2	2	1	4	2	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:21422397C>A	ENST00000313654.9	+	28	3616	c.3375C>A	c.(3373-3375)ggC>ggA	p.G1125G	LAMA3_ENST00000399516.3_Silent_p.G1125G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1125	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACACCTGGGCCGATACGTCT	0.512													9	69					0.000442599	0.000449327	1	0	A	21422397	C	A	21422397	2	1	357	1	0	0	0	0	0	0	0	1	8660	726	26	4		4	LAMA3	18	21422397	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	66552	21422397	56654851	670	67962											
AQP4	361	broad.mit.edu	37	chr18	24445643	24445643	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaccgccttgctgtgggtCtgtcactcatgccttcccca	4	11	8	18	1	3	0	2	0	1	0	4	0	4	0	6	1	2	1	6	1	0	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:24445643C>G	ENST00000383168.4	-	1	139	c.11G>C	c.(10-12)aGa>aCa	p.R4T	AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	4					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TGCTGTGGGTCTGTCACTCAT	0.527													10	122					0	0	0	0	G	24445643	C	G	24445643	3	3	357	1	0	0	0	0	1	0	0	0	830	913	32	2	980	2	AQP4	18	24445643	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3023246	24445643	53631605	671	67963											
DSC2	1824	broad.mit.edu	37	chr18	28666558	28666558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctctgtctagctgagatGatgttgtggtgatcacgcct	6	14	11	10	1	3	3	1	3	2	1	4	4	3	3	2	1	1	2	2	1	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:28666558G>A	ENST00000280904.6	-	7	1366	c.923C>T	c.(922-924)tCa>tTa	p.S308L	DSC2_ENST00000251081.6_Missense_Mutation_p.S308L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	308	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TAGCTGAGATGATGTTGTGGT	0.428													22	107					0	0	0	0	A	28666558	G	A	28666558	3	1	357	1	0	0	0	0	1	0	0	0	4802	1294	45	2	1862	2	DSC2	18	28666558	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4220915	28666558	49410690	672	67964											
ASXL3	80816	broad.mit.edu	37	chr18	31318979	31318979	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagttgttatcgatcagttAgaagtctgtgactctcttat	10	16	8	7	1	3	2	1	1	2	1	5	3	3	2	0	0	0	3	0	0	4	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:31318979A>G	ENST00000269197.5	+	11	1611	c.1611A>G	c.(1609-1611)ttA>ttG	p.L537L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCGATCAGTTAGAAGTCTGTG	0.403													3	17					0	0	0	0	G	31318979	A	G	31318979	2	3	357	1	0	0	0	0	0	0	0	1	1072	417	15	5		5	ASXL3	18	31318979	Silent	SNP	A	TCGA-CV-A6K2-01A-11D-A31L-08	2652421	31318979	46758269	673	67965											
ASXL3	80816	broad.mit.edu	37	chr18	31325454	31325454	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagcaagaatggctaaacaAgcactccatgcagaacagaa	19	5	8	9	0	0	3	0	0	0	3	1	3	1	3	1	1	5	4	1	1	8	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:31325454A>G	ENST00000269197.5	+	12	5642	c.5642A>G	c.(5641-5643)aAg>aGg	p.K1881R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1881					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGGCTAAACAAGCACTCCATG	0.498													36	226					0	0	0	0	G	31325454	A	G	31325454	3	3	357	1	0	0	0	0	1	0	0	0	1072	72	3	5	5688	5	ASXL3	18	31325454	Missense_Mutation	SNP	A	TCGA-CV-A6K2-01A-11D-A31L-08	6475	31325454	46751794	674	67966											
RPRD1A	55197	broad.mit.edu	37	chr18	33613772	33613772	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgacatcattggctaggtaGagaaaagtaagcttcctgtt	13	12	10	6	0	1	2	1	1	0	1	2	3	2	2	1	2	1	5	1	2	5	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:33613772G>C	ENST00000399022.4	-	2	351	c.180C>G	c.(178-180)ctC>ctG	p.L60L	RPRD1A_ENST00000588737.1_Silent_p.L24L|RPRD1A_ENST00000337059.5_Silent_p.L24L|RPRD1A_ENST00000357384.4_Silent_p.L60L|RPRD1A_ENST00000590898.1_Silent_p.L24L|RPRD1A_ENST00000319040.6_Silent_p.L60L	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	60	CID.									NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TGGCTAGGTAGAGAAAAGTAA	0.348													10	46					0	0	0	0	C	33613772	G	C	33613772	2	2	357	1	0	0	0	0	0	0	0	1	13700	929	33	2		2	RPRD1A	18	33613772	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2288318	33613772	44463476	675	67967											
MYO5B	4645	broad.mit.edu	37	chr18	47404207	47404207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggtaattggagtcagattCtaagctactttggtttgatg	9	15	13	4	0	2	2	1	1	1	1	2	3	2	3	0	4	2	3	0	4	3	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:47404207C>G	ENST00000285039.7	-	25	3621	c.3322G>C	c.(3322-3324)Gaa>Caa	p.E1108Q	MYO5B_ENST00000324581.6_Missense_Mutation_p.E249Q	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1108					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGTCAGATTCTAAGCTACTT	0.468													6	128					0	0	0	0	G	47404207	C	G	47404207	3	3	357	1	0	0	0	0	1	0	0	0	10149	922	32	2	2288	2	MYO5B	18	47404207	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	13790435	47404207	30673041	676	67968											
ALPK2	115701	broad.mit.edu	37	chr18	56247486	56247486	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcaagattgcccaatgactgGagggagagtgaatggttgga	12	9	15	5	0	1	4	1	2	0	2	1	7	1	6	1	4	1	1	1	4	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:56247486G>C	ENST00000361673.3	-	4	735	c.522C>G	c.(520-522)ctC>ctG	p.L174L		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	174							ATP binding|protein serine/threonine kinase activity			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						CCAATGACTGGAGGGAGAGTG	0.478													45	163					0	0	0	0	C	56247486	G	C	56247486	2	2	357	1	0	0	0	0	0	0	0	1	545	1161	41	2		2	ALPK2	18	56247486	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	8843279	56247486	21829762	677	67969											
ZNF532	55205	broad.mit.edu	37	chr18	56587478	56587478	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaccattgtacaaagaacctCgttttttacaacaaatgcag	16	11	5	9	1	0	1	0	0	0	1	1	1	0	1	2	0	6	3	2	0	7	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:56587478C>G	ENST00000336078.4	+	4	2735	c.1959C>G	c.(1957-1959)ctC>ctG	p.L653L	ZNF532_ENST00000589288.1_Silent_p.L653L|ZNF532_ENST00000591083.1_Silent_p.L653L|ZNF532_ENST00000591808.1_Silent_p.L653L|ZNF532_ENST00000591230.1_Silent_p.L653L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAAAGAACCTCGTTTTTTACA	0.493													25	83					0	0	0	0	G	56587478	C	G	56587478	2	3	357	1	0	0	0	0	0	0	0	1	18067	871	31	3		3	ZNF532	18	56587478	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	339992	56587478	21489770	678	67970											
KDSR	2531	broad.mit.edu	37	chr18	61018259	61018259	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggcgctccttcatggtggtGatcacggcccggctggggta	4	9	16	12	4	2	1	2	1	0	0	3	1	3	1	2	7	0	3	2	7	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:61018259G>A	ENST00000406396.3	-	6	862	c.471C>T	c.(469-471)atC>atT	p.I157I	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	157					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						TCATGGTGGTGATCACGGCCC	0.557													18	94					0	0	0	0	A	61018259	G	A	61018259	2	1	357	1	0	0	0	0	0	0	0	1	8192	1280	45	2		2	KDSR	18	61018259	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4430781	61018259	17058989	679	67971											
RTTN	25914	broad.mit.edu	37	chr18	67843965	67843965	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgcaaacagggaaatgctGataaaggccattctgtggtg	13	9	12	7	0	1	1	0	1	1	0	1	2	1	2	1	3	3	2	1	3	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:67843965G>A	ENST00000255674.6	-	11	1708	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	RTTN_ENST00000454359.1_Silent_p.I474I|RTTN_ENST00000437017.1_Silent_p.I474I	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	474							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGGAAATGCTGATAAAGGCCA	0.453													26	90					0	0	0	0	A	67843965	G	A	67843965	2	1	357	1	0	0	0	0	0	0	0	1	13822	1280	45	2		2	RTTN	18	67843965	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6825706	67843965	10233283	680	67972											
CNDP1	84735	broad.mit.edu	37	chr18	72226609	72226609	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	actctgtccagcctgtgcctCgcttcagacaagagctcttc	7	11	8	15	1	3	2	1	0	2	2	6	2	4	2	3	0	3	2	3	0	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:72226609C>G	ENST00000582365.1	+	2	142	c.76C>G	c.(76-78)Cgc>Ggc	p.R26G	CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000358821.3_Missense_Mutation_p.R69G			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	69					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.R69S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GCCTGTGCCTCGCTTCAGACA	0.622													22	86					0	0	0	0	G	72226609	C	G	72226609	3	3	357	1	0	0	0	0	1	0	0	0	3623	884	31	3	215	3	CNDP1	18	72226609	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	4382644	72226609	5850639	681	67973											
TSHZ1	10194	broad.mit.edu	37	chr18	72999678	72999678	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcgctggacccgctggcGatgctgtacaagatcagcaa	9	7	11	14	3	1	1	1	0	0	1	2	3	1	2	2	2	3	5	2	2	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:72999678G>A	ENST00000322038.5	+	2	2765	c.2181G>A	c.(2179-2181)gcG>gcA	p.A727A	TSHZ1_ENST00000580243.1_Silent_p.A772A	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	772						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACCCGCTGGCGATGCTGTACA	0.582													13	35					0	0	0	0	A	72999678	G	A	72999678	2	1	357	1	0	0	0	0	0	0	0	1	16718	1045	37	1		1	TSHZ1	18	72999678	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	773069	72999678	5077570	682	67974											
ZNF77	58492	broad.mit.edu	37	chr19	2933611	2933611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacgtgcacacgaagggacGaggaacaactgtaggctttc	12	7	12	10	3	1	0	1	0	0	0	2	4	1	2	0	3	3	3	0	3	4	2	rs112261253		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:2933611G>A	ENST00000314531.4	-	4	1606	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGAAGGGACGAGGAACAACT	0.502													17	58					0	0	0	0	A	2933611	G	A	2933611	3	1	357	1	0	0	0	0	1	0	0	0	18236	1059	37	1	127	1	ZNF77	19	2933611	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08		2933611	56195372	683	67975											
TJP3	27134	broad.mit.edu	37	chr19	3746521	3746521	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gatgtgaccccctccgccatCgagcgcctcaactatgtgca	8	8	9	16	3	1	1	1	1	0	0	3	3	2	1	5	0	3	1	5	0	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:3746521C>G	ENST00000541714.2	+	17	2511	c.2049C>G	c.(2047-2049)atC>atG	p.I683M	TJP3_ENST00000382008.3_Missense_Mutation_p.I697M|TJP3_ENST00000262968.9_Missense_Mutation_p.I716M|TJP3_ENST00000587686.1_Missense_Mutation_p.I702M|TJP3_ENST00000539908.2_Missense_Mutation_p.I647M|TJP3_ENST00000589378.1_Missense_Mutation_p.I692M	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	697	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCGCCATCGAGCGCCTCA	0.637													7	64					0	0	0	0	G	3746521	C	G	3746521	3	3	357	1	0	0	0	0	1	0	0	0	16025	874	31	3	2210	3	TJP3	19	3746521	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	812910	3746521	55382462	684	67976											
CREB3L3	84699	broad.mit.edu	37	chr19	4157082	4157082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctccccactctggtcccccGaaggcagtgatagtggcatc	7	8	11	15	1	1	1	0	1	1	0	4	2	3	1	4	3	0	3	4	3	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:4157082G>A	ENST00000078445.2	+	3	394	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	CREB3L3_ENST00000595923.1_Missense_Mutation_p.E82K|CREB3L3_ENST00000602257.1_Missense_Mutation_p.E83K|CREB3L3_ENST00000602147.1_Missense_Mutation_p.E83K|CREB3L3_ENST00000252587.3_Missense_Mutation_p.E73K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	83					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGTCCCCCGAAGGCAGTGA	0.672													18	82					0	0	0	0	A	4157082	G	A	4157082	3	1	357	1	0	0	0	0	1	0	0	0	3888	1059	37	1	257	1	CREB3L3	19	4157082	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	410561	4157082	54971901	685	67977											
CREB3L3	84699	broad.mit.edu	37	chr19	4164557	4164557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggggctgggcactgtcagGagctggtgctcaccgaggat	6	8	17	10	1	2	0	2	0	0	0	2	3	2	2	1	6	2	4	1	6	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:4164557G>A	ENST00000078445.2	+	5	781	c.634G>A	c.(634-636)Gag>Aag	p.E212K	CREB3L3_ENST00000595923.1_Missense_Mutation_p.E211K|CREB3L3_ENST00000602257.1_Missense_Mutation_p.E210K|CREB3L3_ENST00000602147.1_Missense_Mutation_p.E212K|CREB3L3_ENST00000252587.3_Missense_Mutation_p.E152K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	212					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACTGTCAGGAGCTGGTGCT	0.612													29	84					0	0	0	0	A	4164557	G	A	4164557	3	1	357	1	0	0	0	0	1	0	0	0	3888	1175	41	2	652	2	CREB3L3	19	4164557	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	7475	4164557	54964426	686	67978											
SEMA6B	10501	broad.mit.edu	37	chr19	4548067	4548067	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccccgagtactgctggcagcGagccacaggcactcggacca	9	4	12	16	3	0	0	0	0	0	0	1	3	0	1	4	3	4	4	4	3	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:4548067G>C	ENST00000586582.1	-	14	1883	c.1573C>G	c.(1573-1575)Cgc>Ggc	p.R525G	SEMA6B_ENST00000301293.3_Missense_Mutation_p.R525G|SEMA6B_ENST00000586965.1_Missense_Mutation_p.R525G	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	525					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGGCAGCGAGCCACAGGC	0.682													3	7					0	0	0	0	C	4548067	G	C	4548067	3	2	357	1	0	0	0	0	1	0	0	0	14127	1058	37	3	1109	3	SEMA6B	19	4548067	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	383510	4548067	54580916	687	67979											
PTPRS	5802	broad.mit.edu	37	chr19	5207951	5207951	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctgtctgcaccatggcCggccgctgggttcgtagcat	5	10	12	14	3	2	0	0	0	2	0	3	0	2	0	4	3	2	5	4	3	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:5207951C>T	ENST00000372412.4	-	37	5996	c.5763G>A	c.(5761-5763)ccG>ccA	p.P1921P	PTPRS_ENST00000588012.1_Silent_p.P1882P|PTPRS_ENST00000353284.2_Silent_p.P1473P|PTPRS_ENST00000262963.6_Silent_p.P1900P|PTPRS_ENST00000587303.1_Silent_p.P1920P|PTPRS_ENST00000348075.2_Silent_p.P1882P|PTPRS_ENST00000357368.4_Silent_p.P1920P|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Silent_p.P1473P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1920	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCACCATGGCCGGCCGCTGGG	0.607													23	116					0	0	0	0	T	5207951	C	T	5207951	2	4	357	1	0	0	0	0	0	0	0	1	12893	639	23	1		1	PTPRS	19	5207951	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	659884	5207951	53921032	688	67980											
MCOLN1	57192	broad.mit.edu	37	chr19	7595342	7595342	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttcatctacatggtgctCagcctcttcatcgcgctcat	6	14	6	15	2	7	0	4	0	3	0	8	0	7	0	1	1	3	2	1	1	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:7595342C>T	ENST00000264079.6	+	12	1655	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	510					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACATGGTGCTCAGCCTCTTCA	0.632													59	252					0	0	0	0	T	7595342	C	T	7595342	2	4	357	1	0	0	0	0	0	0	0	1	9464	813	29	2		2	MCOLN1	19	7595342	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2387391	7595342	51533641	689	67981											
MAP2K7	5609	broad.mit.edu	37	chr19	7975005	7975005	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagacgggctacctgaccatCgggggccaggtaccaccttc	8	6	12	15	2	0	2	0	1	0	1	2	2	0	2	5	4	2	2	5	4	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:7975005C>T	ENST00000545011.1	+	3	389	c.324C>T	c.(322-324)atC>atT	p.I108I	MAP2K7_ENST00000397979.3_Silent_p.I108I|MAP2K7_ENST00000397983.3_Silent_p.I124I|MAP2K7_ENST00000397981.3_Silent_p.I108I			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	108					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	ACCTGACCATCGGGGGCCAGG	0.662													7	13					0	0	0	0	T	7975005	C	T	7975005	2	4	357	1	0	0	0	0	0	0	0	1	9311	874	31	1		1	MAP2K7	19	7975005	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	379663	7975005	51153978	690	67982			2	107		3	3	447	C		6.365556e-05
MAP2K7	5609	broad.mit.edu	37	chr19	7975351	7975351	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtgcagcaaatgcggcgctCcgggaacaaggaggagaaca	13	4	15	9	3	0	1	0	0	0	1	1	4	1	3	1	4	5	3	1	4	4	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:7975351C>G	ENST00000545011.1	+	5	652	c.587C>G	c.(586-588)tCc>tGc	p.S196C	MAP2K7_ENST00000397979.3_Missense_Mutation_p.S154C|MAP2K7_ENST00000397983.3_Missense_Mutation_p.S170C|MAP2K7_ENST00000397981.3_Missense_Mutation_p.S154C			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	154	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	ATGCGGCGCTCCGGGAACAAG	0.637													5	14					0	0	0	0	G	7975351	C	G	7975351	3	3	357	1	0	0	0	0	1	0	0	0	9311	855	30	2	479	2	MAP2K7	19	7975351	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	346	7975351	51153632	691	67983			2	107		3	3	447	C		6.365556e-05
MAP2K7	5609	broad.mit.edu	37	chr19	7975451	7975451	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctttgggacgttcatCaccaacgtgagtacctggcc	8	10	11	12	2	2	1	2	1	0	0	2	2	2	2	3	2	3	3	3	2	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:7975451C>A	ENST00000545011.1	+	5	752	c.687C>A	c.(685-687)atC>atA	p.I229I	MAP2K7_ENST00000397979.3_Silent_p.I187I|MAP2K7_ENST00000397983.3_Silent_p.I203I|MAP2K7_ENST00000397981.3_Silent_p.I187I			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	187	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GGACGTTCATCACCAACGTGA	0.632													13	41					4.36969e-10	4.56498e-10	1	0	A	7975451	C	A	7975451	2	1	357	1	0	0	0	0	0	0	0	1	9311	816	29	2		2	MAP2K7	19	7975451	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	100	7975451	51153532	692	67984			2	107		3	3	447	C		6.365556e-05
FBN3	84467	broad.mit.edu	37	chr19	8201186	8201186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggctgctggtgcattcGtctacatctgaggggagagg	7	9	17	8	1	2	2	0	1	2	1	3	3	2	2	0	6	3	3	0	6	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:8201186G>A	ENST00000600128.1	-	12	1767	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	FBN3_ENST00000601739.1_Silent_p.D451D|FBN3_ENST00000270509.2_Silent_p.D451D			Q75N90	FBN3_HUMAN	fibrillin 3	451	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGTGCATTCGTCTACATCTG	0.682													4	86					0	0	0	0	A	8201186	G	A	8201186	2	1	357	1	0	0	0	0	0	0	0	1	5749	1136	40	1		1	FBN3	19	8201186	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	225735	8201186	50927797	693	67985											
ADAMTS10	81794	broad.mit.edu	37	chr19	8670115	8670115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtagaagaggcgggactCggctgtggcccccgtgccgc	5	8	16	12	4	0	2	0	0	0	2	1	3	0	3	3	4	1	2	3	4	2	2	rs61750006	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:8670115C>T	ENST00000270328.4	-	3	483	c.217G>A	c.(217-219)Gag>Aag	p.E73K	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E73K			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	73					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGGCGGGACTCGGCTGTGGCC	0.687													10	35					0	0	0	0	T	8670115	C	T	8670115	3	4	357	1	0	0	0	0	1	0	0	0	256	893	31	1	3186	1	ADAMTS10	19	8670115	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	468929	8670115	50458868	694	67986											
MUC16	94025	broad.mit.edu	37	chr19	9033703	9033703	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggttggtgatggtgaagttGagggtgaatggcaccatgaa	11	10	17	3	0	0	5	0	5	0	0	0	5	0	5	1	5	0	3	1	5	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:9033703G>A	ENST00000397910.4	-	9	36437	c.36234C>T	c.(36232-36234)ctC>ctT	p.L12078L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12080	SEA 1.|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						TGGTGAAGTTGAGGGTGAATG	0.532													4	83					0	0	0	0	A	9033703	G	A	9033703	2	1	357	1	0	0	0	0	0	0	0	1	10043	1277	45	2		2	MUC16	19	9033703	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	363588	9033703	50095280	695	67987											
MUC16	94025	broad.mit.edu	37	chr19	9063295	9063295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttctgtttgaagaaggatGagttttctctgtatctgtgg	7	18	12	4	0	3	3	0	2	3	1	4	4	3	4	0	2	0	4	0	2	3	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:9063295G>A	ENST00000397910.4	-	3	24354	c.24151C>T	c.(24151-24153)Cat>Tat	p.H8051Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8053	Ser-rich.|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						GAAGAAGGATGAGTTTTCTCT	0.468													23	65					0	0	0	0	A	9063295	G	A	9063295	3	1	357	1	0	0	0	0	1	0	0	0	10043	1290	45	2	19700	2	MUC16	19	9063295	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	29592	9063295	50065688	696	67988											
MUC16	94025	broad.mit.edu	37	chr19	9067695	9067695	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggaaggatacattttcTctgtatctttaatgtcttct	8	20	7	6	0	4	0	0	0	4	0	5	2	4	2	0	2	1	1	0	2	4	8			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:9067695T>C	ENST00000397910.4	-	3	19954	c.19751A>G	c.(19750-19752)gAg>gGg	p.E6584G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6586	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						ATACATTTTCTCTGTATCTTT	0.453													30	91					0	0	0	0	C	9067695	T	C	9067695	3	2	357	1	0	0	0	0	1	0	0	0	10043	1551	54	5	24100	5	MUC16	19	9067695	Missense_Mutation	SNP	T	TCGA-CV-A6K2-01A-11D-A31L-08	4400	9067695	50061288	697	67989											
OR7G3	390883	broad.mit.edu	37	chr19	9237605	9237605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaaagaattctggagtgtCtgagaagtttcctgctttca	11	13	11	6	0	3	3	1	1	2	3	4	6	4	4	1	1	1	2	1	1	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:9237605C>T	ENST00000305444.2	-	1	21	c.22G>A	c.(22-24)Gac>Aac	p.D8N		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTGGAGTGTCTGAGAAGTTT	0.443													6	31					0	0	0	0	T	9237605	C	T	9237605	3	4	357	1	0	0	0	0	1	0	0	0	11295	913	32	2	919	2	OR7G3	19	9237605	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	169910	9237605	49891378	698	67990											
SMARCA4	6597	broad.mit.edu	37	chr19	11098481	11098481	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcagacccagtccccCgggcagccggcccagcccgc	6	1	11	23	4	0	1	0	0	0	1	1	1	1	1	8	2	2	2	8	2	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:11098481C>T	ENST00000358026.2	+	6	1283	c.999C>T	c.(997-999)ccC>ccT	p.P333P	SMARCA4_ENST00000429416.3_Silent_p.P333P|SMARCA4_ENST00000590574.1_Silent_p.P333P|SMARCA4_ENST00000589677.1_Silent_p.P333P|SMARCA4_ENST00000344626.4_Silent_p.P333P|SMARCA4_ENST00000541122.2_Silent_p.P333P|SMARCA4_ENST00000450717.3_Silent_p.P333P|SMARCA4_ENST00000444061.3_Silent_p.P333P|SMARCA4_ENST00000413806.3_Silent_p.P333P	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	333					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCAGTCCCCCGGGCAGCCGG	0.741			"F, N, Mis"		NSCLC								3	18					0	0	0	0	T	11098481	C	T	11098481	2	4	357	1	0	0	0	0	0	0	0	1	14858	639	23	1		1	SMARCA4	19	11098481	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1860876	11098481	48030502	699	67991											
ZNF441	126068	broad.mit.edu	37	chr19	11891352	11891352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcgtttcctgcttatagttCcactctaagacatgaaagaa	13	12	7	9	1	1	3	0	1	1	2	3	3	3	3	2	0	2	3	2	0	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:11891352C>G	ENST00000357901.4	+	4	815	c.713C>G	c.(712-714)tCc>tGc	p.S238C	ZNF441_ENST00000454339.2_Missense_Mutation_p.S171C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTTATAGTTCCACTCTAAGA	0.373													6	50					0	0	0	0	G	11891352	C	G	11891352	3	3	357	1	0	0	0	0	1	0	0	0	18009	855	30	2	727	2	ZNF441	19	11891352	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	792871	11891352	47237631	700	67992											
ZNF700	90592	broad.mit.edu	37	chr19	12059292	12059292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagaggtgacactggacaCaaggcatatgagtatcagga	15	7	12	7	0	2	3	2	2	0	1	2	5	2	5	0	4	0	2	0	4	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:12059292C>G	ENST00000482090.1	+	3	817	c.399C>G	c.(397-399)caC>caG	p.H133Q	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.H151Q|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ACACTGGACACAAGGCATATG	0.403													45	204					0	0	0	0	G	12059292	C	G	12059292	3	3	357	1	0	0	0	0	1	0	0	0	18199	477	17	4	467	4	ZNF700	19	12059292	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	167940	12059292	47069691	701	67993											
ZNF700	90592	broad.mit.edu	37	chr19	12059635	12059635	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacttattctgctacccttCaaatacatgaaagaactcac	14	13	3	11	0	3	2	2	1	1	1	3	2	3	2	1	0	5	1	1	0	7	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:12059635C>G	ENST00000482090.1	+	3	1160	c.742C>G	c.(742-744)Caa>Gaa	p.Q248E	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.Q266E|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGCTACCCTTCAAATACATGA	0.348													7	36					0	0	0	0	G	12059635	C	G	12059635	3	3	357	1	0	0	0	0	1	0	0	0	18199	827	29	2	810	2	ZNF700	19	12059635	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	343	12059635	47069348	702	67994											
ZNF763	284390	broad.mit.edu	37	chr19	12089148	12089148	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcacaaggcatacgagtatCaggactatgcaccaaagcca	15	5	10	11	1	1	0	1	0	0	0	1	2	1	1	2	3	3	4	2	3	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:12089148C>G	ENST00000343949.5	+	4	573	c.418C>G	c.(418-420)Cag>Gag	p.Q140E	ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000358987.3_Missense_Mutation_p.Q137E|ZNF763_ENST00000590798.1_Missense_Mutation_p.Q157E|ZNF763_ENST00000538752.1_Missense_Mutation_p.Q157E|ZNF763_ENST00000545530.1_Missense_Mutation_p.Q15E	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATACGAGTATCAGGACTATGC	0.403													48	172					0	0	0	0	G	12089148	C	G	12089148	3	3	357	1	0	0	0	0	1	0	0	0	18231	827	29	2	432	2	ZNF763	19	12089148	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	29513	12089148	47039835	703	67995											
HOOK2	29911	broad.mit.edu	37	chr19	12885628	12885628	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccttcagctccactcacatCtggttcagcacataggctac	9	10	6	16	0	4	0	3	0	1	0	5	0	5	0	2	2	3	4	2	2	2	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:12885628C>G	ENST00000264827.5	-	2	299	c.129G>C	c.(127-129)caG>caC	p.Q43H	HOOK2_ENST00000589965.1_5'UTR|HOOK2_ENST00000397668.3_Missense_Mutation_p.Q43H	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	43	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CCACTCACATCTGGTTCAGCA	0.592													7	31					0	0	0	0	G	12885628	C	G	12885628	3	3	357	1	0	0	0	0	1	0	0	0	7333	912	32	2	2118	2	HOOK2	19	12885628	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	796480	12885628	46243355	704	67996											
IER2	9592	broad.mit.edu	37	chr19	13264165	13264165	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcggccaaggtggaggccctCgagcccgaggtgtcgttgcc	5	7	16	13	4	0	0	0	0	0	0	3	3	0	1	4	5	2	1	4	5	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:13264165C>G	ENST00000588173.1	+	1	1377	c.165C>G	c.(163-165)ctC>ctG	p.L55L	IER2_ENST00000587885.1_Silent_p.L55L|CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000292433.3_Silent_p.L55L|CTC-250I14.6_ENST00000592882.1_RNA			Q9BTL4	IER2_HUMAN	immediate early response 2	55										kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TGGAGGCCCTCGAGCCCGAGG	0.731											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11					0	0	0	0	G	13264165	C	G	13264165	2	3	357	1	0	0	0	0	0	0	0	1	7558	871	31	3		3	IER2	19	13264165	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	378537	13264165	45864818	705	67997											
BRD4	23476	broad.mit.edu	37	chr19	15367072	15367072	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgctcgtgcacggctttGagctgtagaccagacaggca	9	8	13	11	2	0	3	0	1	0	2	1	3	0	3	1	2	4	7	1	2	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:15367072G>C	ENST00000263377.2	-	9	1775	c.1554C>G	c.(1552-1554)ctC>ctG	p.L518L	BRD4_ENST00000360016.5_Silent_p.L518L|BRD4_ENST00000371835.4_Silent_p.L518L|BRD4_ENST00000602230.1_5'UTR	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	518					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCACGGCTTTGAGCTGTAGAC	0.507			T	C15orf55	lethal midline carcinoma of young people								24	126					0	0	0	0	C	15367072	G	C	15367072	2	2	357	1	0	0	0	0	0	0	0	1	1512	1277	45	2		2	BRD4	19	15367072	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2102907	15367072	43761911	706	67998											
RASAL3	64926	broad.mit.edu	37	chr19	15574877	15574877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggctccgggtctggctccGgcggtgggttcttatgcctc	1	11	15	14	4	2	0	0	0	2	0	5	0	4	0	4	6	1	3	4	6	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:15574877G>A	ENST00000343625.6	-	2	373	c.293C>T	c.(292-294)cCg>cTg	p.P98L		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	98	Pro-rich.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GTCTGGCTCCGGCGGTGGGTT	0.652													6	22					0	0	0	0	A	15574877	G	A	15574877	3	1	357	1	0	0	0	0	1	0	0	0	13147	1116	39	1	2810	1	RASAL3	19	15574877	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	207805	15574877	43554106	707	67999											
TPM4	7171	broad.mit.edu	37	chr19	16192732	16192732	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacctccccaggctgaaggtGatgtggccgccctcaaccga	8	6	12	15	2	1	2	1	2	0	0	2	4	2	2	6	3	1	1	6	3	2	0	rs116258660	by1000genomes	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:16192732G>C	ENST00000300933.4	+	2	402	c.142G>C	c.(142-144)Gat>Cat	p.D48H	TPM4_ENST00000538887.1_Missense_Mutation_p.D84H|TPM4_ENST00000344824.6_Missense_Mutation_p.D84H	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	48					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GGCTGAAGGTGATGTGGCCGC	0.617			T	ALK	ALCL								16	45					0	0	0	0	C	16192732	G	C	16192732	3	2	357	1	0	0	0	0	1	0	0	0	16503	1290	45	2	396	2	TPM4	19	16192732	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	617855	16192732	42936251	708	68000											
SLC27A1	376497	broad.mit.edu	37	chr19	17615340	17615340	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acctcagaccggctcttcttCctggacctgaagcagggcca	8	8	10	15	1	3	2	1	1	2	1	4	3	4	3	5	3	1	2	5	3	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:17615340C>T	ENST00000252595.7	+	12	1957	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Silent_p.F620F|SLC27A1_ENST00000598424.1_Silent_p.F441F|SLC27A1_ENST00000598848.1_3'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	620					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGCTCTTCTTCCTGGACCTGA	0.597													21	88					0	0	0	0	T	17615340	C	T	17615340	2	4	357	1	0	0	0	0	0	0	0	1	14613	854	30	2		2	SLC27A1	19	17615340	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1422608	17615340	41513643	709	68001											
NR2C2AP	126382	broad.mit.edu	37	chr19	19312802	19312802	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaaagtcagtggcatcctCaaacgtcaccttcagccggt	13	8	8	12	2	4	0	4	0	0	0	5	0	5	0	3	2	2	1	3	2	4	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:19312802C>G	ENST00000331552.6	-	5	715	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	NR2C2AP_ENST00000420605.2_Missense_Mutation_p.E118Q|NR2C2AP_ENST00000544883.1_3'UTR|NR2C2AP_ENST00000590907.2_5'UTR	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	118					cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			GTGGCATCCTCAAACGTCACC	0.577													11	71					0	0	0	0	G	19312802	C	G	19312802	3	3	357	1	0	0	0	0	1	0	0	0	10695	835	29	2	71	2	NR2C2AP	19	19312802	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1697462	19312802	39816181	710	68002											
ZNF253	56242	broad.mit.edu	37	chr19	20002532	20002532	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttcataagttttcaaattCaaacacatataagacaagac	18	12	3	8	0	3	2	3	0	0	2	3	2	3	2	0	0	1	1	0	0	6	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:20002532C>G	ENST00000589717.1	+	4	568	c.476C>G	c.(475-477)tCa>tGa	p.S159*	ZNF253_ENST00000355650.4_Nonsense_Mutation_p.S83*	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	159					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTTCAAATTCAAACACATAT	0.299													7	36					0	0	0	0	G	20002532	C	G	20002532	4	3	357	1	0	0	0	0	0	1	0	0	17892	838	29	2	490	2	ZNF253	19	20002532	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	689730	20002532	39126451	711	68003											
GPATCH1	55094	broad.mit.edu	37	chr19	33604789	33604789	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcatcaagtgaaaaagtatCacagcaccgaggtcccgaca	16	5	9	11	2	2	1	2	1	0	0	3	3	3	1	2	1	2	3	2	1	4	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:33604789C>G	ENST00000170564.2	+	14	2323	c.2009C>G	c.(2008-2010)tCa>tGa	p.S670*		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	670						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GAAAAAGTATCACAGCACCGA	0.522													3	40					0	0	0	0	G	33604789	C	G	33604789	4	3	357	1	0	0	0	0	0	1	0	0	6639	838	29	2	2063	2	GPATCH1	19	33604789	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	13602257	33604789	25524194	712	68004											
ZNF599	148103	broad.mit.edu	37	chr19	35250961	35250961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatggtttttccccagtatGaagcctcatatgtcgaatga	10	14	9	8	1	1	2	1	2	0	0	3	3	2	2	3	1	1	3	3	1	5	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:35250961G>T	ENST00000329285.7	-	4	1118	c.745C>A	c.(745-747)Cat>Aat	p.H249N		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCCCCAGTATGAAGCCTCATA	0.483													34	130					2.42023e-17	2.56858e-17	1	0	T	35250961	G	T	35250961	3	4	357	1	0	0	0	0	1	0	0	0	18124	1290	45	2	1025	2	ZNF599	19	35250961	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1646172	35250961	23878022	713	68005											
HPN	3249	broad.mit.edu	37	chr19	35556164	35556164	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcacagaatacatccaGcctgtgtgcctcccagctgc	8	10	7	16	0	2	1	1	0	1	1	5	1	4	1	4	0	5	1	4	0	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:35556164G>A	ENST00000262626.2	+	10	1647	c.822G>A	c.(820-822)caG>caA	p.Q274Q	HPN_ENST00000392226.1_Silent_p.Q274Q|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Silent_p.Q116Q	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	274	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	AATACATCCAGCCTGTGTGCC	0.612													5	45					0	0	0	0	A	35556164	G	A	35556164	2	1	357	1	0	0	0	0	0	0	0	1	7386	962	34	4		4	HPN	19	35556164	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	305203	35556164	23572819	714	68006											
HPN	3249	broad.mit.edu	37	chr19	35556472	35556472	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccggggtactccaggaggctCgagtccccataatcagcaat	10	7	11	13	2	1	0	1	0	0	0	4	2	3	1	4	4	2	3	4	4	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:35556472C>G	ENST00000262626.2	+	11	1762	c.937C>G	c.(937-939)Cga>Gga	p.R313G	HPN_ENST00000392226.1_Missense_Mutation_p.R313G|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Missense_Mutation_p.R155G	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	313	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCAGGAGGCTCGAGTCCCCAT	0.612													5	50					0	0	0	0	G	35556472	C	G	35556472	3	3	357	1	0	0	0	0	1	0	0	0	7386	876	31	3	975	3	HPN	19	35556472	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	308	35556472	23572511	715	68007											
MAG	4099	broad.mit.edu	37	chr19	35786323	35786323	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtacagaatgatattcctCacggcactgcctctgttctg	8	13	8	12	1	3	2	1	1	2	1	4	2	4	2	2	1	2	3	2	1	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:35786323C>G	ENST00000361922.4	+	3	162	c.12C>G	c.(10-12)ctC>ctG	p.L4L	MAG_ENST00000392213.3_Silent_p.L4L|MAG_ENST00000537831.2_Intron|MAG_ENST00000597035.1_Silent_p.L4L	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	4					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGATATTCCTCACGGCACTGC	0.552													68	395					0	0	0	0	G	35786323	C	G	35786323	2	3	357	1	0	0	0	0	0	0	0	1	9227	813	29	2		2	MAG	19	35786323	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	229851	35786323	23342660	716	68008											
ZNF565	147929	broad.mit.edu	37	chr19	36673657	36673657	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgatgttgaatgaggtatGagctacgactaaatgccttc	11	14	10	6	1	0	4	0	4	0	0	1	5	0	4	1	1	3	3	1	1	5	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:36673657G>C	ENST00000355114.5	-	5	2057	c.1331C>G	c.(1330-1332)tCa>tGa	p.S444*	ZNF565_ENST00000392173.2_Nonsense_Mutation_p.S404*|ZNF565_ENST00000304116.5_Nonsense_Mutation_p.S404*			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AATGAGGTATGAGCTACGACT	0.463													12	73					0	0	0	0	C	36673657	G	C	36673657	4	2	357	1	0	0	0	0	0	1	0	0	18091	1294	45	2	292	2	ZNF565	19	36673657	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	887334	36673657	22455326	717	68009											
ZNF565	147929	broad.mit.edu	37	chr19	36673808	36673808	+	Missense_Mutation	SNP	G	G	C																															ctccccagaatgaattctttGatgtcgagtaacttctgagc																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:36673808G>C	ENST00000355114.5	-	5	1906	c.1180C>G	c.(1180-1182)Caa>Gaa	p.Q394E	ZNF565_ENST00000392173.2_Missense_Mutation_p.Q354E|ZNF565_ENST00000304116.5_Missense_Mutation_p.Q354E			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TGAATTCTTTGATGTCGAGTA	0.488													17	77					0	0	0	0	C	36673808	G	C	36673808	3	2	357	1	0	0	0	0	1	0	0	0	18091	1299	45	2	443	2	ZNF565	19	36673808	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	151	36673808	22455175	718	68010	830	2									
ZNF565	147929	broad.mit.edu	37	chr19	36673814	36673814	+	Nonsense_Mutation	SNP	G	G	A																															agaatgaattctttgatgtcGagtaacttctgagctgtgaa																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:36673814G>A	ENST00000355114.5	-	5	1900	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	ZNF565_ENST00000392173.2_Nonsense_Mutation_p.R352*|ZNF565_ENST00000304116.5_Nonsense_Mutation_p.R352*			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CTTTGATGTCGAGTAACTTCT	0.493													17	67					0	0	0	0	A	36673814	G	A	36673814	4	1	357	1	0	0	0	0	0	1	0	0	18091	1066	37	1	449	1	ZNF565	19	36673814	Nonsense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6	36673814	22455169	719	68011	830	2									
ZNF585B	92285	broad.mit.edu	37	chr19	37677947	37677947	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcttctgtacaaaagccctCccacattcaatacatacata	14	10	4	13	0	2	0	1	0	1	0	3	0	3	0	2	1	4	2	2	1	7	6			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:37677947C>G	ENST00000532828.2	-	5	743	c.492G>C	c.(490-492)ggG>ggC	p.G164G	ZNF585B_ENST00000531805.1_Silent_p.G109G|ZNF585B_ENST00000527838.1_Intron|ZNF585B_ENST00000312908.5_Intron|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAAAAGCCCTCCCACATTCAA	0.398													29	70					0	0	0	0	G	37677947	C	G	37677947	2	3	357	1	0	0	0	0	0	0	0	1	18113	842	30	2		2	ZNF585B	19	37677947	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1004133	37677947	21451036	720	68012											
RYR1	6261	broad.mit.edu	37	chr19	38983224	38983224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaaagtgcggctggtgaaGaagaaggaagagaaacctga	17	4	16	4	1	0	6	0	2	0	4	0	9	0	7	1	3	2	1	1	3	6	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:38983224G>C	ENST00000355481.4	+	38	6353	c.6222G>C	c.(6220-6222)aaG>aaC	p.K2074N	RYR1_ENST00000360985.3_Missense_Mutation_p.K2074N|RYR1_ENST00000359596.3_Missense_Mutation_p.K2074N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2074	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCTGGTGAAGAAGAAGGAAG	0.602													19	35					0	0	0	0	C	38983224	G	C	38983224	3	2	357	1	0	0	0	0	1	0	0	0	13853	933	33	2	6372	2	RYR1	19	38983224	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1305277	38983224	20145759	721	68013											
MED29	55588	broad.mit.edu	37	chr19	39888208	39888208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctgacagcctcccctacCcacagtacctggcggtcatc	8	7	8	18	1	1	1	1	1	0	0	3	1	2	1	6	2	4	1	6	2	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:39888208C>T	ENST00000315588.5	+	4	584	c.535C>T	c.(535-537)Cca>Tca	p.P179S	MED29_ENST00000594368.1_Silent_p.T134T|MED29_ENST00000599213.2_Missense_Mutation_p.P158S	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCTCCCCTACCCACAGTACCT	0.602											OREG0025460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	41					0	0	0	0	T	39888208	C	T	39888208	3	4	357	1	0	0	0	0	1	0	0	0	9516	623	22	4	549	4	MED29	19	39888208	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	904984	39888208	19240775	722	68014											
ITPKC	80271	broad.mit.edu	37	chr19	41235183	41235183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcgcagcctggagcagctGatgaaagacccgctgcgacc	10	4	13	14	3	0	3	0	2	0	1	0	5	0	4	3	1	5	4	3	1	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:41235183G>A	ENST00000263370.2	+	3	1365	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	444						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGGAGCAGCTGATGAAAGACC	0.537													4	53					0	0	0	0	A	41235183	G	A	41235183	2	1	357	1	0	0	0	0	0	0	0	1	7972	1277	45	2		2	ITPKC	19	41235183	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1346975	41235183	17893800	723	68015											
CYP2A6	1548	broad.mit.edu	37	chr19	41350671	41350671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccagcatagggaacacttCggtgccctggtagggaggag	9	6	16	10	1	0	0	0	0	0	0	1	3	0	3	2	5	3	2	2	5	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:41350671C>T	ENST00000301141.5	-	8	1188	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	390					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GGGAACACTTCGGTGCCCTGG	0.572													37	68					0	0	0	0	T	41350671	C	T	41350671	3	4	357	1	0	0	0	0	1	0	0	0	4194	893	31	1	324	1	CYP2A6	19	41350671	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	115488	41350671	17778312	724	68016											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41770636	41770636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgagctggaggggaccgcGcagccaccgccgcccgggct	5	3	16	17	6	0	0	0	0	0	0	1	3	1	2	6	4	2	3	6	4	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:41770636G>A	ENST00000392006.3	+	1	401	c.228G>A	c.(226-228)gcG>gcA	p.A76A	HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000595018.1_Intron|HNRNPUL1_ENST00000602130.1_Silent_p.A76A|HNRNPUL1_ENST00000352456.3_Intron	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	76	Necessary for interaction with HRMT1L1.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGGGACCGCGCAGCCACCGC	0.771													5	15					0	0	0	0	A	41770636	G	A	41770636	2	1	357	1	0	0	0	0	0	0	0	1	7324	1074	38	1		1	HNRNPUL1	19	41770636	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	419965	41770636	17358347	725	68017											
ZNF45	7596	broad.mit.edu	37	chr19	44418406	44418406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggcccggcagaagcctttCccacactcctcacatttgta	9	9	8	15	1	1	1	1	0	0	1	3	2	3	1	4	2	1	2	4	2	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:44418406C>T	ENST00000269973.5	-	10	2272	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.G394G	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	394					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						AGAAGCCTTTCCCACACTCCT	0.512													16	99					0	0	0	0	T	44418406	C	T	44418406	2	4	357	1	0	0	0	0	0	0	0	1	18016	842	30	2		2	ZNF45	19	44418406	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2647770	44418406	14710577	726	68018											
ZNF284	342909	broad.mit.edu	37	chr19	44590583	44590583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagagaaatcatttagatgtGatacctgtagtaatagcttt	15	14	8	4	0	1	3	1	1	0	2	1	4	1	3	1	0	2	3	1	0	7	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:44590583G>C	ENST00000421176.3	+	5	1168	c.952G>C	c.(952-954)Gat>Cat	p.D318H	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ATTTAGATGTGATACCTGTAG	0.368													12	92					0	0	0	0	C	44590583	G	C	44590583	3	2	357	1	0	0	0	0	1	0	0	0	17916	1290	45	2	966	2	ZNF284	19	44590583	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	172177	44590583	14538400	727	68019											
ZNF229	7772	broad.mit.edu	37	chr19	44936400	44936400	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttcagttccaattacccaGaggattcctctcacccactg	10	11	6	14	0	2	1	2	0	1	1	5	2	4	2	4	1	1	2	4	1	2	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:44936400G>A	ENST00000588931.1	-	5	668	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CAATTACCCAGAGGATTCCTC	0.438													14	106					0	0	0	0	A	44936400	G	A	44936400	2	1	357	1	0	0	0	0	0	0	0	1	17877	933	33	2		2	ZNF229	19	44936400	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	345817	44936400	14192583	728	68020											
MEIS3	56917	broad.mit.edu	37	chr19	47910191	47910191	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgtctcggtatagcccccGatgggctggccctctgggct	3	10	14	14	3	2	0	0	0	2	0	3	1	2	0	3	4	2	3	3	4	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:47910191G>A	ENST00000331559.5	-	11	1560	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	MEIS3_ENST00000558555.1_Silent_p.I344I|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000441740.2_Silent_p.I327I|MEIS3_ENST00000561293.1_Silent_p.I390I|MEIS3_ENST00000559524.1_Silent_p.I390I|MEIS3_ENST00000561096.1_Silent_p.I432I	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	344						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I390I(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TATAGCCCCCGATGGGCTGGC	0.706													4	14					0	0	0	0	A	47910191	G	A	47910191	2	1	357	1	0	0	0	0	0	0	0	1	9538	1048	37	1		1	MEIS3	19	47910191	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2973791	47910191	11218792	729	68021											
EMP3	2014	broad.mit.edu	37	chr19	48832733	48832733	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttctatgccaccggcctCtgccagctttgcaccagtga	6	11	8	16	1	3	1	0	1	3	0	3	1	3	1	5	1	4	2	5	1	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:48832733C>G	ENST00000270221.6	+	4	607	c.306C>G	c.(304-306)ctC>ctG	p.L102L	EMP3_ENST00000596315.1_Silent_p.L33L|EMP3_ENST00000597279.1_Silent_p.L102L	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	102					cell growth|negative regulation of cell proliferation	integral to membrane				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCACCGGCCTCTGCCAGCTTT	0.572													15	114					0	0	0	0	G	48832733	C	G	48832733	2	3	357	1	0	0	0	0	0	0	0	1	5141	900	32	2		2	EMP3	19	48832733	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	922542	48832733	10296250	730	68022											
GRIN2D	2906	broad.mit.edu	37	chr19	48925132	48925132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatccgcagcaactatcccGacatgcacagctacatggtg	12	7	8	14	2	0	0	0	0	0	0	2	1	2	0	2	1	5	4	2	1	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:48925132G>A	ENST00000263269.3	+	10	2270	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	728						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CAACTATCCCGACATGCACAG	0.647													12	187					0	0	0	0	A	48925132	G	A	48925132	3	1	357	1	0	0	0	0	1	0	0	0	6832	1058	37	1	2216	1	GRIN2D	19	48925132	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	92399	48925132	10203851	731	68023											
PPP1R15A	23645	broad.mit.edu	37	chr19	49378883	49378883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccgcaggtgcgcttctccGagaaggtcactgtccatttc	6	10	11	14	3	2	1	1	0	1	1	5	2	3	1	3	2	1	2	3	2	1	2	rs71819374		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:49378883G>A	ENST00000200453.5	+	3	1947	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	560	Interaction with SMARCB1.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GCGCTTCTCCGAGAAGGTCAC	0.677													18	120					0	0	0	0	A	49378883	G	A	49378883	3	1	357	1	0	0	0	0	1	0	0	0	12439	1059	37	1	1684	1	PPP1R15A	19	49378883	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	453751	49378883	9750100	732	68024											
PPP1R15A	23645	broad.mit.edu	37	chr19	49379229	49379229	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcagtgggaggcgtggctGagaccaactggtttgcctat	7	10	14	10	1	1	1	1	1	0	1	1	3	1	2	3	4	2	2	3	4	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:49379229G>A	ENST00000200453.5	+	3	2293	c.2024G>A	c.(2023-2025)tGa>tAa	p.*675*		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	0					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	p.*675S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		AGGCGTGGCTGAGACCAACTG	0.507													29	128					0	0	0	0	A	49379229	G	A	49379229	2	1	357	1	0	0	0	0	0	0	0	1	12439	1285	45	2		2	PPP1R15A	19	49379229	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	346	49379229	9749754	733	68025											
VRK3	51231	broad.mit.edu	37	chr19	50496183	50496183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccatgaacatactcattCtcatggaggaactccagggc	11	11	8	11	0	2	1	2	1	1	0	5	3	4	3	2	3	3	0	2	3	3	3	rs56089748	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:50496183C>G	ENST00000599538.1	-	10	1561	c.897G>C	c.(895-897)gaG>gaC	p.E299D	VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594092.1_Missense_Mutation_p.E299D|VRK3_ENST00000316763.3_Missense_Mutation_p.E299D|VRK3_ENST00000594948.1_Missense_Mutation_p.E299D|VRK3_ENST00000593919.1_Missense_Mutation_p.E299D|VRK3_ENST00000443401.2_Missense_Mutation_p.E68D|VRK3_ENST00000601912.1_Missense_Mutation_p.E249D|VRK3_ENST00000601341.1_Missense_Mutation_p.E249D|VRK3_ENST00000377011.2_Missense_Mutation_p.E249D			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	299	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CATACTCATTCTCATGGAGGA	0.507													44	111					0	0	0	0	G	50496183	C	G	50496183	3	3	357	1	0	0	0	0	1	0	0	0	17317	912	32	2	547	2	VRK3	19	50496183	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1116954	50496183	8632800	734	68026											
MYH14	79784	broad.mit.edu	37	chr19	50804959	50804959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcagctgagcgcagtttCtcagccaaggcagagagcgg	9	7	14	11	2	2	2	2	1	1	1	3	3	2	2	1	2	4	4	1	2	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:50804959C>T	ENST00000440075.2	+	40	5558	c.5511C>T	c.(5509-5511)ttC>ttT	p.F1837F	MYH14_ENST00000601313.1_Silent_p.F1837F|MYH14_ENST00000598205.1_Silent_p.F1804F|MYH14_ENST00000596571.1_Silent_p.F1796F|MYH14_ENST00000425460.1_Silent_p.F1804F|MYH14_ENST00000376970.2_Silent_p.F1829F|MYH14_ENST00000262269.8_Silent_p.F1837F			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1796					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGCGCAGTTTCTCAGCCAAGG	0.627													16	70					0	0	0	0	T	50804959	C	T	50804959	2	4	357	1	0	0	0	0	0	0	0	1	10103	912	32	2		2	MYH14	19	50804959	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	308776	50804959	8324024	735	68027											
KLK2	3817	broad.mit.edu	37	chr19	51381788	51381788	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcattaccggaagtggatCaaggacaccatcgcagccaa	13	6	11	11	2	1	0	1	0	0	0	2	3	1	3	3	3	3	2	3	3	4	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:51381788C>G	ENST00000325321.3	+	5	984	c.759C>G	c.(757-759)atC>atG	p.I253M	KLK2_ENST00000391810.2_Missense_Mutation_p.I151M|KLK2_ENST00000358049.4_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	253	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GGAAGTGGATCAAGGACACCA	0.547			T	ETV4	prostate								19	310					0	0	0	0	G	51381788	C	G	51381788	3	3	357	1	0	0	0	0	1	0	0	0	8456	816	29	2	814	2	KLK2	19	51381788	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	576829	51381788	7747195	736	68028											
SIGLEC8	27181	broad.mit.edu	37	chr19	51955672	51955672	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaggggttgtgattcctCaaacaggcctgagtctctgc	7	11	13	10	0	2	2	1	2	1	0	4	3	3	3	2	4	2	1	2	4	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:51955672C>T	ENST00000321424.3	-	7	1527	c.1461G>A	c.(1459-1461)ttG>ttA	p.L487L	SIGLEC8_ENST00000340550.5_Silent_p.L394L|SIGLEC8_ENST00000430817.1_Silent_p.L378L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	487					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGTGATTCCTCAAACAGGCCT	0.532													38	73					0	0	0	0	T	51955672	C	T	51955672	2	4	357	1	0	0	0	0	0	0	0	1	14402	825	29	2		2	SIGLEC8	19	51955672	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	573884	51955672	7173311	737	68029											
ZNF765	91661	broad.mit.edu	37	chr19	53912244	53912244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagaccttcagccggacgtCatcccttacataccatcata	12	9	5	15	2	3	1	3	0	0	1	4	2	4	2	4	1	3	0	4	1	4	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:53912244C>T	ENST00000396408.3	+	4	1553	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		AGCCGGACGTCATCCCTTACA	0.378													18	131					0	0	0	0	T	53912244	C	T	53912244	3	4	357	1	0	0	0	0	1	0	0	0	18233	838	29	2	1446	2	ZNF765	19	53912244	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1956572	53912244	5216739	738	68030											
LILRB5	10990	broad.mit.edu	37	chr19	54760058	54760058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctttggggagcttctgtGagtacagggtcctggggagc	5	10	17	9	0	1	1	0	1	1	0	2	3	2	3	2	5	3	2	2	5	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:54760058G>A	ENST00000450632.1	-	4	553	c.476C>T	c.(475-477)tCa>tTa	p.S159L	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Missense_Mutation_p.S168L|LILRB5_ENST00000316219.5_Missense_Mutation_p.S168L			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	168	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGCTTCTGTGAGTACAGGGT	0.547													23	93					0	0	0	0	A	54760058	G	A	54760058	3	1	357	1	0	0	0	0	1	0	0	0	8848	1294	45	2	1312	2	LILRB5	19	54760058	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	847814	54760058	4368925	739	68031											
LILRA2	11027	broad.mit.edu	37	chr19	55087566	55087566	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagtgaccccctggagctCgtggtctcaggtgagggccc	5	7	14	15	1	1	2	1	2	1	0	3	3	1	3	4	4	1	1	4	4	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:55087566C>T	ENST00000251377.3	+	7	1378	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Silent_p.L415L|LILRA2_ENST00000391738.3_Silent_p.L415L|LILRA2_ENST00000391737.1_Silent_p.L403L					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCTGGAGCTCGTGGTCTCAG	0.612													9	132					0	0	0	0	T	55087566	C	T	55087566	2	4	357	1	0	0	0	0	0	0	0	1	8839	871	31	1		1	LILRA2	19	55087566	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	327508	55087566	4041417	740	68032											
ZNF71	58491	broad.mit.edu	37	chr19	57134092	57134092	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aagaccttcagccgcaacacGaacctgacgcgccacctgcg	11	4	9	17	5	1	2	1	1	0	1	1	3	1	2	5	0	4	1	5	0	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:57134092G>C	ENST00000328070.6	+	3	1671	c.1437G>C	c.(1435-1437)acG>acC	p.T479T		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	479						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCCGCAACACGAACCTGACGC	0.642													21	58					0	0	0	0	C	57134092	G	C	57134092	2	2	357	1	0	0	0	0	0	0	0	1	18209	1045	37	3		3	ZNF71	19	57134092	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2046526	57134092	1994891	741	68033											
ZNF805	390980	broad.mit.edu	37	chr19	57765274	57765274	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catacctcatgtggcaccagCagactcataccggggagaag	12	6	11	12	1	2	2	2	0	0	2	2	3	2	2	3	3	3	2	3	3	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:57765274C>G	ENST00000535550.1	+	4	1184	c.688C>G	c.(688-690)Cag>Gag	p.Q230E	ZNF805_ENST00000414468.2_Missense_Mutation_p.Q363E|ZNF805_ENST00000354309.4_Missense_Mutation_p.Q230E	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						GTGGCACCAGCAGACTCATAC	0.507													4	69					0	0	0	0	G	57765274	C	G	57765274	3	3	357	1	0	0	0	0	1	0	0	0	18265	711	25	4	1101	4	ZNF805	19	57765274	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	631182	57765274	1363709	742	68034											
ZNF134	7693	broad.mit.edu	37	chr19	58132662	58132662	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaccttgttcgacaccaaaGagttcacactggagaaaggc	13	7	9	12	1	1	2	1	0	0	2	2	4	1	2	3	2	0	2	3	2	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:58132662G>C	ENST00000396161.5	+	3	1485	c.1175G>C	c.(1174-1176)aGa>aCa	p.R392T		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	392						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CGACACCAAAGAGTTCACACT	0.488													5	182					0	0	0	0	C	58132662	G	C	58132662	3	2	357	1	0	0	0	0	1	0	0	0	17819	942	33	2	1181	2	ZNF134	19	58132662	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	367388	58132662	996321	743	68035											
NAA20	51126	broad.mit.edu	37	chr20	20013775	20013775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcactttccagggatactGagaagaaatccatcatacca	16	8	7	10	0	1	2	1	1	0	2	3	4	3	3	3	1	3	1	3	1	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:20013775G>A	ENST00000398602.2	+	6	1080	c.445G>A	c.(445-447)Gag>Aag	p.E149K	NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Missense_Mutation_p.E161K|NAA20_ENST00000310450.4_Silent_p.*112*	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	161	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						CAGGGATACTGAGAAGAAATC	0.368													4	73					0	0	0	0	A	20013775	G	A	20013775	3	1	357	1	0	0	0	0	1	0	0	0	10190	1294	45	2	524	2	NAA20	20	20013775	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08		20013775	43011745	744	68036											
ITCH	83737	broad.mit.edu	37	chr20	33080393	33080393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccagtaggaggatttgctGatctcatgggtatgtataca	10	13	12	6	0	1	1	1	1	1	0	2	3	1	3	1	3	3	4	1	3	4	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:33080393G>A	ENST00000374864.4	+	23	2620	c.2407G>A	c.(2407-2409)Gat>Aat	p.D803N	ITCH_ENST00000262650.6_Missense_Mutation_p.D844N|ITCH_ENST00000535650.1_Missense_Mutation_p.D693N	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	844	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGGATTTGCTGATCTCATGGG	0.353													17	67					0	0	0	0	A	33080393	G	A	33080393	3	1	357	1	0	0	0	0	1	0	0	0	7921	1290	45	2	2489	2	ITCH	20	33080393	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	13066618	33080393	29945127	745	68037											
PIGU	128869	broad.mit.edu	37	chr20	33173312	33173312	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacatacaaagaagaggctGaagtgctcaaacatctctgc	16	7	8	10	0	2	3	1	1	1	2	3	3	2	3	0	1	4	2	0	1	5	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:33173312G>A	ENST00000374820.2	-	8	815	c.795C>T	c.(793-795)ttC>ttT	p.F265F	PIGU_ENST00000480175.1_Intron|PIGU_ENST00000452740.2_Silent_p.F285F			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	285					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						AGAAGAGGCTGAAGTGCTCAA	0.428													31	126					0	0	0	0	A	33173312	G	A	33173312	2	1	357	1	0	0	0	0	0	0	0	1	11972	1281	45	2		2	PIGU	20	33173312	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	92919	33173312	29852208	746	68038											
NCOA6	23054	broad.mit.edu	37	chr20	33356328	33356328	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatttccagctcccatgggTccattcattctcacatcttg	8	14	6	13	0	3	0	2	0	2	0	7	1	6	0	3	1	1	1	3	1	1	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:33356328T>A	ENST00000374796.2	-	6	3023	c.453A>T	c.(451-453)ggA>ggT	p.G151G	NCOA6_ENST00000359003.2_Silent_p.G151G			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	151	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTCCCATGGGTCCATTCATTC	0.438													18	84					0	0	0	0	A	33356328	T	A	33356328	2	1	357	1	0	0	0	0	0	0	0	1	10303	1654	58	5		5	NCOA6	20	33356328	Silent	SNP	T	TCGA-CV-A6K2-01A-11D-A31L-08	183016	33356328	29669192	747	68039											
FAM83C	128876	broad.mit.edu	37	chr20	33879981	33879981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccgccagccgagccgcctCgctgtgccgcagcaccagcg	5	3	14	19	6	0	0	0	0	0	0	1	1	0	0	7	1	5	3	7	1	0	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:33879981C>T	ENST00000374408.3	-	1	223	c.127G>A	c.(127-129)Gag>Aag	p.E43K		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	43										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGAGCCGCCTCGCTGTGCCGC	0.741													8	33					0	0	0	0	T	33879981	C	T	33879981	3	4	357	1	0	0	0	0	1	0	0	0	5681	893	31	1	2132	1	FAM83C	20	33879981	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	523653	33879981	29145539	748	68040											
SLC32A1	140679	broad.mit.edu	37	chr20	37356202	37356202	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctacaccggcaagatcctCatcgcgtgcctgtacgagga	9	8	11	13	4	1	1	1	0	0	1	3	3	2	2	3	2	4	3	3	2	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:37356202C>T	ENST00000217420.1	+	2	761	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	166					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCAAGATCCTCATCGCGTGCC	0.637													5	95					0	0	0	0	T	37356202	C	T	37356202	2	4	357	1	0	0	0	0	0	0	0	1	14653	813	29	2		2	SLC32A1	20	37356202	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3476221	37356202	25669318	749	68041											
ZNF335	63925	broad.mit.edu	37	chr20	44598318	44598318	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgcgctcgagctgctctCagatacctcctcctgagggg	5	10	12	14	2	2	2	1	1	2	1	6	3	4	2	3	2	4	3	3	2	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:44598318C>G	ENST00000322927.2	-	3	314	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	ZNF335_ENST00000426788.1_Intron	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GAGCTGCTCTCAGATACCTCC	0.602											OREG0025987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	112					0	0	0	0	G	44598318	C	G	44598318	3	3	357	1	0	0	0	0	1	0	0	0	17947	835	29	2	3918	2	ZNF335	20	44598318	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	7242116	44598318	18427202	750	68042											
EYA2	2139	broad.mit.edu	37	chr20	45718018	45718018	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggcaggggacaatgagattGaggtaatccaaaggggctct	12	7	15	7	1	1	2	0	2	1	1	2	4	2	3	1	6	0	3	1	6	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:45718018G>C	ENST00000327619.5	+	8	1176	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	EYA2_ENST00000317304.6_Missense_Mutation_p.E268Q|EYA2_ENST00000357410.3_Missense_Mutation_p.E268Q	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	268					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CAATGAGATTGAGGTAATCCA	0.587													4	61					0	0	0	0	C	45718018	G	C	45718018	3	2	357	1	0	0	0	0	1	0	0	0	5367	1291	45	2	828	2	EYA2	20	45718018	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1119700	45718018	17307502	751	68043											
ZNFX1	57169	broad.mit.edu	37	chr20	47874031	47874031	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagcctcatggccagaagcaTtttagccaactcctggtctg	9	11	9	12	0	2	1	1	0	1	1	3	1	3	1	4	2	4	1	4	2	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:47874031T>A	ENST00000396105.1	-	8	2833	c.2587A>T	c.(2587-2589)Atg>Ttg	p.M863L	ZNFX1_ENST00000371754.4_Missense_Mutation_p.M863L|ZNFX1_ENST00000371752.1_Missense_Mutation_p.M863L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	863							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCAGAAGCATTTTAGCCAAC	0.562													17	71					0	0	0	0	A	47874031	T	A	47874031	3	1	357	1	0	0	0	0	1	0	0	0	18298	1493	52	5	3197	5	ZNFX1	20	47874031	Missense_Mutation	SNP	T	TCGA-CV-A6K2-01A-11D-A31L-08	2156013	47874031	15151489	752	68044											
ZNF217	7764	broad.mit.edu	37	chr20	52199198	52199198	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatacccctcgatttggatGacatttttttcttgtgtagc	8	18	7	8	1	1	1	0	1	1	0	2	3	1	2	2	1	2	1	2	1	3	8			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:52199198G>A	ENST00000371471.2	-	2	593	c.168C>T	c.(166-168)gtC>gtT	p.V56V	ZNF217_ENST00000302342.3_Silent_p.V56V			O75362	ZN217_HUMAN	zinc finger protein 217	56					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CGATTTGGATGACATTTTTTT	0.468													8	89					0	0	0	0	A	52199198	G	A	52199198	2	1	357	1	0	0	0	0	0	0	0	1	17867	1277	45	2		2	ZNF217	20	52199198	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4325167	52199198	10826322	753	68045											
CASS4	57091	broad.mit.edu	37	chr20	55020994	55020994	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctgtccgggcctcactGccgactctgccttcccaggt	5	9	10	17	2	2	1	1	0	1	1	4	2	4	1	6	2	2	0	6	2	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:55020994G>A	ENST00000371336.3	+	3	699	c.498G>A	c.(496-498)ctG>ctA	p.L166L	CASS4_ENST00000434344.1_Silent_p.L166L|CASS4_ENST00000360314.3_Silent_p.L166L	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	166					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGGCCTCACTGCCGACTCTGC	0.582													7	59					0	0	0	0	A	55020994	G	A	55020994	2	1	357	1	0	0	0	0	0	0	0	1	2708	1306	46	4		4	CASS4	20	55020994	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2821796	55020994	8004526	754	68046											
GNAS	2778	broad.mit.edu	37	chr20	57430097	57430097	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggatgcctccgctggtttCagcatcggcgaaatcgccgc	6	8	12	15	6	1	0	1	0	0	0	4	2	2	1	4	3	2	3	4	3	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:57430097C>T	ENST00000371100.4	+	1	2329	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Nonsense_Mutation_p.Q593*|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Nonsense_Mutation_p.Q593*|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000306120.3_Silent_p.F529F	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCTGGTTTCAGCATCGGCG	0.642			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			9	34					0	0	0	0	T	57430097	C	T	57430097	4	4	357	1	0	0	0	0	0	1	0	0	6561	827	29	2	2521	2	GNAS	20	57430097	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	2409103	57430097	5595423	755	68047											
YTHDF1	54915	broad.mit.edu	37	chr20	61828074	61828074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcgccctcattgtttgtttcGactctgccgttcctgtaaaa	6	16	7	12	3	2	0	1	0	1	0	5	1	3	0	3	0	1	4	3	0	2	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:61828074G>C	ENST00000370339.3	-	5	2007	c.1666C>G	c.(1666-1668)Cga>Gga	p.R556G	YTHDF1_ENST00000370333.4_Missense_Mutation_p.R506G|YTHDF1_ENST00000370334.4_Missense_Mutation_p.R49G	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	556										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGTTTGTTTCGACTCTGCCGT	0.443													12	64					0	0	0	0	C	61828074	G	C	61828074	3	2	357	1	0	0	0	0	1	0	0	0	17594	1066	37	3	17	3	YTHDF1	20	61828074	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4397977	61828074	1197446	756	68048											
TPD52L2	7165	broad.mit.edu	37	chr20	62505042	62505042	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaagaggaaattgtcactCtgcgccaggtcctggcagcc	9	8	13	11	1	2	1	1	0	1	1	3	3	3	3	3	4	2	1	3	4	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:62505042C>G	ENST00000217121.5	+	3	259	c.187C>G	c.(187-189)Ctg>Gtg	p.L63V	TPD52L2_ENST00000352482.4_Missense_Mutation_p.L63V|TPD52L2_ENST00000369927.4_Missense_Mutation_p.L40V|TPD52L2_ENST00000358548.4_Missense_Mutation_p.L63V|TPD52L2_ENST00000348257.5_Missense_Mutation_p.L63V|TPD52L2_ENST00000351424.4_Missense_Mutation_p.L63V|TPD52L2_ENST00000346249.4_Missense_Mutation_p.L63V	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	63					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					AATTGTCACTCTGCGCCAGGT	0.557													9	33					0	0	0	0	G	62505042	C	G	62505042	3	3	357	1	0	0	0	0	1	0	0	0	16494	912	32	2	197	2	TPD52L2	20	62505042	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	676968	62505042	520478	757	68049											
BACH1	571	broad.mit.edu	37	chr21	30699037	30699037	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaagaaagatcctgcttctCagtgcccaactgaaaaatca	15	8	7	11	1	2	3	2	1	1	2	4	4	3	3	2	0	3	1	2	0	5	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr21:30699037C>T	ENST00000399921.1	+	3	1135	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	BACH1_ENST00000286800.3_Nonsense_Mutation_p.Q298*	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	298						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TCCTGCTTCTCAGTGCCCAAC	0.423													22	120					0	0	0	0	T	30699037	C	T	30699037	4	4	357	1	0	0	0	0	0	1	0	0	1287	827	29	2	898	2	BACH1	21	30699037	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08		30699037	17430858	758	68050											
GRIK1	2897	broad.mit.edu	37	chr21	30934044	30934044	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atactcaatgctggtggactCcatcagcagcgcgtagtctg	9	10	11	11	2	3	0	2	0	1	0	4	1	4	1	1	2	4	3	1	2	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr21:30934044C>G	ENST00000399914.1	-	14	2733	c.2212G>C	c.(2212-2214)Gag>Cag	p.E738Q	GRIK1_ENST00000389124.2_Missense_Mutation_p.E753Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.E755Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.E753Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.E753Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.E755Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.E753Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.E738Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.E738Q			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	753					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTGGTGGACTCCATCAGCAGC	0.547													13	46					0	0	0	0	G	30934044	C	G	30934044	3	3	357	1	0	0	0	0	1	0	0	0	6823	864	30	2	671	2	GRIK1	21	30934044	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	235007	30934044	17195851	759	68051											
SLC5A3	6526	broad.mit.edu	37	chr21	35469623	35469623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttgctgtgtgttcacttgGaattttcatgtttgtttatt	5	24	8	4	0	2	0	2	0	0	0	2	1	2	1	0	1	1	4	0	1	2	10			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr21:35469623G>C	ENST00000381151.3	+	2	2638	c.2126G>C	c.(2125-2127)gGa>gCa	p.G709A	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	709						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGTTCACTTGGAATTTTCATG	0.358													9	50					0	0	0	0	C	35469623	G	C	35469623	3	2	357	1	0	0	0	0	1	0	0	0	14754	1174	41	2	2128	2	SLC5A3	21	35469623	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	4535579	35469623	12660272	760	68052											
PFKL	5211	broad.mit.edu	37	chr21	45744491	45744491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcattgctgtgggggccGacgccgcctacgtcttcgag	4	9	15	13	5	1	0	0	0	1	0	2	2	1	0	3	3	2	2	3	3	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr21:45744491G>A	ENST00000403390.1	+	18	1909	c.1909G>A	c.(1909-1911)Gac>Aac	p.D637N	PFKL_ENST00000349048.4_Missense_Mutation_p.D590N			P17858	K6PL_HUMAN	phosphofructokinase, liver	590					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGTGGGGGCCGACGCCGCCTA	0.647													28	105					0	0	0	0	A	45744491	G	A	45744491	3	1	357	1	0	0	0	0	1	0	0	0	11836	1058	37	1	1834	1	PFKL	21	45744491	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	10274868	45744491	2385404	761	68053											
CECR2	27443	broad.mit.edu	37	chr22	17983900	17983900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcccaagggccaggccaagGtacttggtggctcctgtgcc	6	8	14	13	0	0	0	0	0	0	0	2	0	2	0	5	5	2	2	5	5	3	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:17983900G>A	ENST00000262608.8	+	6	599	c.599G>A	c.(598-600)gGt>gAt	p.G200D	CECR2_ENST00000342247.5_Missense_Mutation_p.G199D|CECR2_ENST00000400573.4_Missense_Mutation_p.G219D|CECR2_ENST00000400585.2_Missense_Mutation_p.G78D	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	241					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAGGCCAAGGTACTTGGTGG	0.498													7	82					0	0	0	0	A	17983900	G	A	17983900	3	1	357	1	0	0	0	0	1	0	0	0	3235	1261	44	4	620	4	CECR2	22	17983900	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08		17983900	33320666	762	68054											
ADRBK2	157	broad.mit.edu	37	chr22	26114340	26114340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaatggagaggagagggaGagtcccgggtaagtctaagg	12	7	18	4	1	1	4	0	1	1	3	2	7	2	4	1	5	0	1	1	5	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:26114340G>A	ENST00000324198.5	+	19	1975	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	595	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	AGGAGAGGGAGAGTCCCGGGT	0.468													26	112					0	0	0	0	A	26114340	G	A	26114340	3	1	357	1	0	0	0	0	1	0	0	0	344	943	33	2	1857	2	ADRBK2	22	26114340	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	8130440	26114340	25190226	763	68055											
ZNRF3	84133	broad.mit.edu	37	chr22	29439334	29439334	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaggccggtggtgtatgtGaagggtgcagatgccattaa	11	9	16	5	1	0	3	0	1	0	2	0	3	0	3	2	4	2	2	2	4	4	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:29439334G>A	ENST00000544604.2	+	4	724	c.549G>A	c.(547-549)gtG>gtA	p.V183V	ZNRF3_ENST00000406323.3_Silent_p.V83V|ZNRF3_ENST00000402174.1_Silent_p.V83V|ZNRF3_ENST00000332811.4_Silent_p.V83V	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	183						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TGGTGTATGTGAAGGGTGCAG	0.542													16	81					0	0	0	0	A	29439334	G	A	29439334	2	1	357	1	0	0	0	0	0	0	0	1	18306	1277	45	2		2	ZNRF3	22	29439334	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	3324994	29439334	21865232	764	68056											
EWSR1	2130	broad.mit.edu	37	chr22	29695726	29695726	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccgtggtggccggggcatgGaccgaggtggctttggtgga	4	9	20	8	3	0	0	0	0	0	0	1	3	1	2	3	9	0	2	3	9	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:29695726G>C	ENST00000397938.2	+	16	2135	c.1816G>C	c.(1816-1818)Gac>Cac	p.D606H	EWSR1_ENST00000331029.7_Missense_Mutation_p.D568H|EWSR1_ENST00000414183.2_Missense_Mutation_p.D611H|EWSR1_ENST00000332035.6_Missense_Mutation_p.D550H|EWSR1_ENST00000332050.6_Missense_Mutation_p.D533H|EWSR1_ENST00000406548.1_Missense_Mutation_p.D605H	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	606	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCGGGGCATGGACCGAGGTGG	0.642			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"								6	22					0	0	0	0	C	29695726	G	C	29695726	3	2	357	1	0	0	0	0	1	0	0	0	5333	1174	41	2	1995	2	EWSR1	22	29695726	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	256392	29695726	21608840	765	68057											
GAS2L1	10634	broad.mit.edu	37	chr22	29708037	29708037	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggccaatgcccgggcccttGaggctgttgctagcgtgacc	5	9	14	13	2	0	2	0	2	0	0	0	2	0	2	4	3	3	3	4	3	2	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:29708037G>C	ENST00000471961.1	+	5	2644	c.1596G>C	c.(1594-1596)ttG>ttC	p.L532F	GAS2L1_ENST00000407854.1_Missense_Mutation_p.L532F|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000407647.2_Missense_Mutation_p.L532F|GAS2L1_ENST00000403764.1_Missense_Mutation_p.L532F|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000341313.6_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	0					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCGGGCCCTTGAGGCTGTTGC	0.667													57	270					0	0	0	0	C	29708037	G	C	29708037	3	2	357	1	0	0	0	0	1	0	0	0	6295	1281	45	2	1618	2	GAS2L1	22	29708037	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	12311	29708037	21596529	766	68058											
CABP7	164633	broad.mit.edu	37	chr22	30125450	30125450	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcctgctccaaccagcagatCcgccagacttgcgtgcgcaa	9	6	10	16	3	0	2	0	0	0	2	2	2	2	2	5	0	5	3	5	0	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:30125450C>T	ENST00000216144.3	+	5	881	c.540C>T	c.(538-540)atC>atT	p.I180I		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	180						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			ACCAGCAGATCCGCCAGACTT	0.637													24	111					0	0	0	0	T	30125450	C	T	30125450	2	4	357	1	0	0	0	0	0	0	0	1	2560	845	30	2		2	CABP7	22	30125450	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	417413	30125450	21179116	767	68059											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31837896	31837896	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggaacttggtggacagggcgGagaaaaggtgttgtaggaac	12	7	18	4	1	0	1	0	0	0	1	0	5	0	4	0	7	2	2	0	7	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:31837896G>C	ENST00000397525.1	-	17	2638	c.2415C>G	c.(2413-2415)ctC>ctG	p.L805L	EIF4ENIF1_ENST00000382180.2_Silent_p.L460L|EIF4ENIF1_ENST00000397523.1_Silent_p.L781L|EIF4ENIF1_ENST00000344710.5_Silent_p.L631L|EIF4ENIF1_ENST00000330125.5_Silent_p.L805L	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	805						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGACAGGGCGGAGAAAAGGTG	0.552													10	94					0	0	0	0	C	31837896	G	C	31837896	2	2	357	1	0	0	0	0	0	0	0	1	5073	1161	41	2		2	EIF4ENIF1	22	31837896	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	1712446	31837896	19466670	768	68060											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31838040	31838040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtaatgctgacagtttGgaatttgtagtgggagaaga	11	13	13	4	0	1	3	0	1	1	2	1	5	1	4	0	2	1	4	0	2	4	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:31838040G>A	ENST00000397525.1	-	17	2494	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S	EIF4ENIF1_ENST00000382180.2_Silent_p.S412S|EIF4ENIF1_ENST00000397523.1_Silent_p.S733S|EIF4ENIF1_ENST00000344710.5_Silent_p.S583S|EIF4ENIF1_ENST00000330125.5_Silent_p.S757S	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	757						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGACAGTTTGGAATTTGTAG	0.468													13	114					0	0	0	0	A	31838040	G	A	31838040	2	1	357	1	0	0	0	0	0	0	0	1	5073	1335	47	4		4	EIF4ENIF1	22	31838040	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	144	31838040	19466526	769	68061											
CARD10	29775	broad.mit.edu	37	chr22	37902275	37902275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccctccaggctggtgagcGttgtcagcagctcatcccgc	5	9	12	15	2	2	1	2	1	0	0	4	1	4	1	3	2	4	4	3	2	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:37902275G>A	ENST00000403299.1	-	8	1523	c.1307C>T	c.(1306-1308)aCg>aTg	p.T436M	CARD10_ENST00000406271.3_Missense_Mutation_p.T150M|CARD10_ENST00000251973.5_Missense_Mutation_p.T436M			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	436					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCTGGTGAGCGTTGTCAGCAG	0.642													9	26					0	0	0	0	A	37902275	G	A	37902275	3	1	357	1	0	0	0	0	1	0	0	0	2669	1145	40	1	1847	1	CARD10	22	37902275	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	6064235	37902275	13402291	770	68062											
TAB1	10454	broad.mit.edu	37	chr22	39826098	39826098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctctgacggaggcctcttCcgctcccggcccgcccactc	4	7	10	20	4	2	1	0	1	2	0	5	2	4	2	5	3	1	2	5	3	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:39826098C>T	ENST00000216160.6	+	11	1448	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	462					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GAGGCCTCTTCCGCTCCCGGC	0.642													16	101					0	0	0	0	T	39826098	C	T	39826098	2	4	357	1	0	0	0	0	0	0	0	1	15586	854	30	2		2	TAB1	22	39826098	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1923823	39826098	11478468	771	68063											
TNRC6B	23112	broad.mit.edu	37	chr22	40660829	40660829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagacgggtctgacatggaaGagtggccttgtattgccagc	9	10	14	8	1	1	3	0	1	1	2	1	4	1	4	2	3	2	1	2	3	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:40660829G>A	ENST00000454349.2	+	5	806	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.E199K|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	199					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						TGACATGGAAGAGTGGCCTTG	0.532													21	133					0	0	0	0	A	40660829	G	A	40660829	3	1	357	1	0	0	0	0	1	0	0	0	16435	943	33	2	734	2	TNRC6B	22	40660829	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	834731	40660829	10643737	772	68064											
EP300	2033	broad.mit.edu	37	chr22	41574914	41574914	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggactcagcaccgataactCagacttgaattcaaacctct	13	9	7	12	1	4	2	3	1	1	1	4	4	4	3	2	1	3	1	2	1	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:41574914C>G	ENST00000263253.7	+	31	8418	c.7199C>G	c.(7198-7200)tCa>tGa	p.S2400*	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2400					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACCGATAACTCAGACTTGAAT	0.448			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				21	59					0	0	0	0	G	41574914	C	G	41574914	4	3	357	1	0	0	0	0	0	1	0	0	5186	838	29	2	7321	2	EP300	22	41574914	Nonsense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	914085	41574914	9729652	773	68065											
TOB2	10766	broad.mit.edu	37	chr22	41832836	41832836	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtggtgaaggtgatgggctGagcggagcggggaatgaagg	9	6	23	3	2	0	4	0	4	0	0	0	6	0	6	0	8	2	1	0	8	3	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:41832836G>C	ENST00000327492.3	-	2	1220	c.514C>G	c.(514-516)Cag>Gag	p.Q172E		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	172					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GTGATGGGCTGAGCGGAGCGG	0.622													14	55					0	0	0	0	C	41832836	G	C	41832836	3	2	357	1	0	0	0	0	1	0	0	0	16442	1299	45	2	524	2	TOB2	22	41832836	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	257922	41832836	9471730	774	68066											
CENPM	79019	broad.mit.edu	37	chr22	42341930	42341930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcacctgtatttgctgtGaagattaaccacaaacacga	13	11	6	11	1	1	2	1	1	1	1	2	3	1	2	2	0	3	2	2	0	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:42341930G>A	ENST00000402338.1	-	2	356	c.115C>T	c.(115-117)Cac>Tac	p.H39Y	CENPM_ENST00000215980.5_Missense_Mutation_p.H73Y|CENPM_ENST00000404067.1_Missense_Mutation_p.H39Y|CENPM_ENST00000407253.3_Missense_Mutation_p.H73Y|CENPM_ENST00000402420.1_Missense_Mutation_p.H39Y			Q9NSP4	CENPM_HUMAN	centromere protein M	73					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus				kidney(1)|large_intestine(1)|prostate(1)	3						TATTTGCTGTGAAGATTAACC	0.537													5	36					0	0	0	0	A	42341930	G	A	42341930	3	1	357	1	0	0	0	0	1	0	0	0	3266	1290	45	2	381	2	CENPM	22	42341930	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	509094	42341930	8962636	775	68067											
POLDIP3	84271	broad.mit.edu	37	chr22	42998010	42998010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttattgacaacattgattCtcattccggcaggatgggga	10	12	12	7	1	1	2	1	2	1	0	3	4	2	4	1	5	1	2	1	5	2	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:42998010C>T	ENST00000252115.5	-	3	607	c.503G>A	c.(502-504)aGa>aAa	p.R168K	POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_Missense_Mutation_p.R12K|POLDIP3_ENST00000348657.2_Intron|POLDIP3_ENST00000491021.1_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	168					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						AACATTGATTCTCATTCCGGC	0.502													19	98					0	0	0	0	T	42998010	C	T	42998010	3	4	357	1	0	0	0	0	1	0	0	0	12267	913	32	2	790	2	POLDIP3	22	42998010	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	656080	42998010	8306556	776	68068											
POLDIP3	84271	broad.mit.edu	37	chr22	42998051	42998051	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagtggtgccatggctttCtgctgtggaacctggaaaca	9	11	13	8	0	1	1	0	1	1	0	1	3	1	3	2	4	4	2	2	4	3	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:42998051C>G	ENST00000252115.5	-	3	566	c.462G>C	c.(460-462)caG>caC	p.Q154H	POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_5'UTR|POLDIP3_ENST00000348657.2_Intron|POLDIP3_ENST00000491021.1_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	154					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CCATGGCTTTCTGCTGTGGAA	0.502													15	80					0	0	0	0	G	42998051	C	G	42998051	3	3	357	1	0	0	0	0	1	0	0	0	12267	912	32	2	831	2	POLDIP3	22	42998051	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	41	42998051	8306515	777	68069											
POLDIP3	84271	broad.mit.edu	37	chr22	42998880	42998880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgatcttctcccgggcatCagcaacctggcggggcttct	5	10	12	14	2	4	1	1	1	3	0	5	1	4	1	2	4	2	4	2	4	1	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:42998880C>T	ENST00000252115.5	-	2	450	c.346G>A	c.(346-348)Gat>Aat	p.D116N	POLDIP3_ENST00000339677.6_Missense_Mutation_p.D116N|POLDIP3_ENST00000451060.2_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.D116N|POLDIP3_ENST00000491021.1_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	116					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						TCCCGGGCATCAGCAACCTGG	0.557													23	155					0	0	0	0	T	42998880	C	T	42998880	3	4	357	1	0	0	0	0	1	0	0	0	12267	826	29	2	951	2	POLDIP3	22	42998880	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	829	42998880	8305686	778	68070											
FAM118A	55007	broad.mit.edu	37	chr22	45726490	45726490	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatgtttggtaggtccttGaatgggcaagagggcacatg	9	12	15	5	0	0	3	0	2	0	1	1	3	1	3	1	4	0	4	1	4	3	4			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:45726490G>C	ENST00000216214.3	+	6	1363	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	FAM118A_ENST00000441876.2_Missense_Mutation_p.E177Q|FAM118A_ENST00000405548.3_5'UTR	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	177						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTAGGTCCTTGAATGGGCAAG	0.468													14	34					0	0	0	0	C	45726490	G	C	45726490	3	2	357	1	0	0	0	0	1	0	0	0	5452	1291	45	2	543	2	FAM118A	22	45726490	Missense_Mutation	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	2727610	45726490	5578076	779	68071											
FBLN1	2192	broad.mit.edu	37	chr22	45931079	45931079	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttttttatgatgtaccaGatattgacgagtgtgagagt	10	16	10	5	1	0	4	0	3	0	2	0	6	0	4	2	0	1	1	2	0	3	7			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:45931079G>A	ENST00000348697.2	+	8	931		c.e8-1		FBLN1_ENST00000442170.2_Splice_Site|FBLN1_ENST00000340923.5_Splice_Site|FBLN1_ENST00000262722.7_Splice_Site|FBLN1_ENST00000327858.6_Splice_Site|FBLN1_ENST00000402984.3_Splice_Site			P23142	FBLN1_HUMAN	fibulin 1						interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGATGTACCAGATATTGACGA	0.413													15	67					0	0	0	0	A	45931079	G	A	45931079	5	1	357	1	0	0	0	0	0	0	1	0	5743	956	33	2	814	2	FBLN1	22	45931079	Splice_Site	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	204589	45931079	5373487	780	68072											
CDKL5	6792	broad.mit.edu	37	chrX	18622107	18622107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgagtgtaggcctgcccCgggctgacgaaggtctccct	6	8	13	14	2	1	2	0	2	1	0	2	3	1	2	5	3	1	2	5	3	2	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:18622107C>T	ENST00000379989.3	+	13	1348	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.R355W	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	355					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGGCCTGCCCCGGGCTGACGA	0.493													58	100					0	0	0	0	T	18622107	C	T	18622107	3	4	357	1	0	0	0	0	1	0	0	0	3186	643	23	1	1105	1	CDKL5	23	18622107	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08		18622107	136648453	781	68073											
YY2	404281	broad.mit.edu	37	chrX	21874967	21874967	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttccagatgaccctggcctCtctgtcggcctcggcggcat	4	10	11	16	3	1	2	0	1	1	1	5	2	2	2	4	4	0	1	4	4	0	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:21874967C>G	ENST00000429584.2	+	1	863	c.365C>G	c.(364-366)tCt>tGt	p.S122C	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ACCCTGGCCTCTCTGTCGGCC	0.587													16	27					0	0	0	0	G	21874967	C	G	21874967	3	3	357	1	0	0	0	0	1	0	0	0	17605	913	32	2	367	2	YY2	23	21874967	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	3252860	21874967	133395593	782	68074											
FAM47C	442444	broad.mit.edu	37	chrX	37028873	37028873	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcccaagactcgtcgagtgtCcagtctccgcctggagcctc	6	9	10	16	3	1	1	0	0	1	1	7	3	3	2	5	1	1	0	5	1	1	0			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:37028873C>G	ENST00000358047.3	+	1	2442	c.2390C>G	c.(2389-2391)tCc>tGc	p.S797C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	797										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGTCGAGTGTCCAGTCTCCGC	0.607													3	36					0	0	0	0	G	37028873	C	G	37028873	3	3	357	1	0	0	0	0	1	0	0	0	5618	855	30	2	2392	2	FAM47C	23	37028873	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	15153906	37028873	118241687	783	68075											
HUWE1	10075	broad.mit.edu	37	chrX	53570870	53570870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtataatggcatcagcctCagcctccagctgccgaacag	10	9	9	13	1	2	0	2	0	0	0	3	1	3	0	4	1	5	3	4	1	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:53570870C>T	ENST00000342160.3	-	72	11768	c.11311G>A	c.(11311-11313)Gag>Aag	p.E3771K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E3771K|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3771					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCATCAGCCTCAGCCTCCAGC	0.517													7	13					0	0	0	0	T	53570870	C	T	53570870	3	4	357	1	0	0	0	0	1	0	0	0	7514	835	29	2	1861	2	HUWE1	23	53570870	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	16541997	53570870	101699690	784	68076											
VSIG4	11326	broad.mit.edu	37	chrX	65253533	65253533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtcacgtagaaagatggtGacagggtctgagccacgttg	11	8	15	7	2	2	4	1	2	1	2	2	5	2	4	1	2	1	2	1	2	2	2			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:65253533G>A	ENST00000455586.2	-	2	321	c.195C>T	c.(193-195)gtC>gtT	p.V65V	VSIG4_ENST00000374737.4_Silent_p.V65V|VSIG4_ENST00000412866.2_Silent_p.V65V	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	65	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAAAGATGGTGACAGGGTCTG	0.547													28	39					0	0	0	0	A	65253533	G	A	65253533	2	1	357	1	0	0	0	0	0	0	0	1	17321	1277	45	2		2	VSIG4	23	65253533	Silent	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	11682663	65253533	90017027	785	68077											
OPHN1	4983	broad.mit.edu	37	chrX	67283695	67283695	+	Splice_Site	DEL	C	C	-																															atgggattcccaagcacttaCcctccttgtggtgggccagg																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:67283695delC	ENST00000355520.5	-	21	2800		c.e21+1		OPHN1_ENST00000484842.1_Intron|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1						axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CAAGCACTTACCCTCCTTGTG	0.532													2	4	---	---	---	---					-	67283695	C	-	67283695	8	5	357	1	0	1	0	1	0	0	1	0	10946	521	18	0	265	0	OPHN1	23	67283695	Splice_Site	DEL	C	TCGA-CV-A6K2-01A-11D-A31L-08	2030162	67283695	87986865	786	68078											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-																															ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc																										TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													7	25	---	---	---	---					-	72433666	TCC	-	72433664	7	5	357	1	0	1	0	1	0	0	0	0	10227	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-CV-A6K2-01A-11D-A31L-08	5149969	72433664	82836896	787	68079											
TBX22	50945	broad.mit.edu	37	chrX	79281108	79281108	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgttttttcaggtacgtCtatcacagctcacagtggat	9	15	9	8	1	4	0	3	0	1	0	4	1	4	1	0	2	2	3	0	2	2	5			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:79281108C>G	ENST00000442340.1	+	5	595	c.105C>G	c.(103-105)gtC>gtG	p.V35V	TBX22_ENST00000373294.5_Silent_p.V155V|TBX22_ENST00000373296.3_Silent_p.V155V|TBX22_ENST00000373291.1_Silent_p.V35V	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	155					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCAGGTACGTCTATCACAGCT	0.507													17	28					0	0	0	0	G	79281108	C	G	79281108	2	3	357	1	0	0	0	0	0	0	0	1	15752	900	32	2		2	TBX22	23	79281108	Silent	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	6847444	79281108	75989452	788	68080											
TRPC5	7224	broad.mit.edu	37	chrX	111025357	111025357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaaacttccactcgatatCagcatgatcctatgaaagat	14	11	6	10	1	1	3	1	2	0	1	4	4	3	3	2	0	3	2	2	0	4	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:111025357C>T	ENST00000262839.2	-	8	2824	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	636					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACTCGATATCAGCATGATCC	0.433													17	19					0	0	0	0	T	111025357	C	T	111025357	3	4	357	1	0	0	0	0	1	0	0	0	16677	826	29	2	1031	2	TRPC5	23	111025357	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	31744249	111025357	44245203	789	68081											
FAM127C	441518	broad.mit.edu	37	chrX	134156231	134156231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcactgaggagggggctctCcttcttgatgtaggggatca	8	11	14	8	0	4	2	2	2	2	0	5	4	4	4	1	5	0	2	1	5	1	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:134156231C>G	ENST00000391440.1	-	1	328	c.259G>C	c.(259-261)Gag>Cag	p.E87Q		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	87										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					AGGGGGCTCTCCTTCTTGATG	0.627													24	32					0	0	0	0	G	134156231	C	G	134156231	3	3	357	1	0	0	0	0	1	0	0	0	5474	864	30	2	86	2	FAM127C	23	134156231	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	23130874	134156231	21114329	790	68082											
GPR112	139378	broad.mit.edu	37	chrX	135496377	135496377	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggagggactaaagaaaatCtttgagcacaaactgttgac	16	8	10	7	0	1	3	0	2	1	1	1	5	1	5	0	2	2	2	0	2	5	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:135496377C>G	ENST00000394143.1	+	25	9387	c.9096C>G	c.(9094-9096)atC>atG	p.I3032M	GPR112_ENST00000412101.1_Missense_Mutation_p.I2827M|GPR112_ENST00000287534.4_Missense_Mutation_p.I2751M|GPR112_ENST00000370652.1_Missense_Mutation_p.I3032M|GPR112_ENST00000394141.1_Missense_Mutation_p.I2827M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3032					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TAAAGAAAATCTTTGAGCACA	0.398													35	69					0	0	0	0	G	135496377	C	G	135496377	3	3	357	1	0	0	0	0	1	0	0	0	6678	903	32	2	9182	2	GPR112	23	135496377	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	1340146	135496377	19774183	791	68083											
CDR1	1038	broad.mit.edu	37	chrX	139865845	139865845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttccagtcagtcagtgtCttccagaaaaatctacgtct	10	13	7	11	1	6	1	2	0	4	1	8	1	8	1	2	0	1	0	2	0	3	3			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:139865845C>G	ENST00000370532.2	-	1	878	c.687G>C	c.(685-687)aaG>aaC	p.K229N		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	229										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAGTCAGTGTCTTCCAGAAAA	0.438													13	96					0	0	0	0	G	139865845	C	G	139865845	3	3	357	1	0	0	0	0	1	0	0	0	3200	912	32	2	105	2	CDR1	23	139865845	Missense_Mutation	SNP	C	TCGA-CV-A6K2-01A-11D-A31L-08	4369468	139865845	15404715	792	68084											
GDI1	2664	broad.mit.edu	37	chrX	153665646	153665646	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctggggaccggtctcaccGtaagtgcggccccggcgccc	4	6	15	16	5	1	0	1	0	1	0	2	1	1	1	5	5	2	2	5	5	1	1			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:153665646G>A	ENST00000447750.2	+	1	380		c.e1+1			NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1						protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGTCTCACCGTAAGTGCGGC	0.697													9	12					0	0	0	0	A	153665646	G	A	153665646	5	1	357	1	0	0	0	0	0	0	1	0	6371	1159	40	1	48	1	GDI1	23	153665646	Splice_Site	SNP	G	TCGA-CV-A6K2-01A-11D-A31L-08	13799801	153665646	1604914	793	68085											
SAMD11	148398	broad.mit.edu	37	chr1	866467	866467	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttccgagaggcgtcctgCaggtaggagccgtgctgtgc	5	10	15	11	3	1	1	0	0	1	1	3	3	3	2	3	3	4	3	3	3	1	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:866467C>T	ENST00000342066.3	+	4	386	c.303C>T	c.(301-303)tgC>tgT	p.C101C		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	101						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AGGCGTCCTGCAGGTAGGAGC	0.637													21	31					0	0	0	0	T	866467	C	T	866467	2	4	358	1	0	0	0	0	0	0	0	1	13901	718	25	4		4	SAMD11	1	866467	Silent	SNP	C	TCGA-CX-7082-01A-11D-2012-08		866467	248384154	1	68086											
MIIP	60672	broad.mit.edu	37	chr1	12081875	12081875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggatgctgtgcggcggtCagtggccagggcagcctcgg	5	6	19	11	3	1	0	1	0	0	0	2	1	1	1	2	6	3	3	2	6	0	0			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:12081875C>T	ENST00000235332.4	+	2	261	c.92C>T	c.(91-93)tCa>tTa	p.S31L	MIIP_ENST00000436478.2_Missense_Mutation_p.S31L	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	31										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GTGCGGCGGTCAGTGGCCAGG	0.662													5	27					0	0	0	0	T	12081875	C	T	12081875	3	4	358	1	0	0	0	0	1	0	0	0	9654	838	29	2	94	2	MIIP	1	12081875	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08	11215408	12081875	237168746	2	68087											
USP48	84196	broad.mit.edu	37	chr1	22030033	22030033	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatccacaactttatggacaTagatggtggcttgagtgtat	11	14	10	6	0	0	2	0	1	0	1	1	3	1	3	1	3	1	2	1	3	5	6			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:22030033T>A	ENST00000308271.9	-	21	3242	c.2594A>T	c.(2593-2595)tAt>tTt	p.Y865F	USP48_ENST00000529637.1_Missense_Mutation_p.Y877F|USP48_ENST00000400301.1_Missense_Mutation_p.Y865F|USP48_ENST00000374732.3_Missense_Mutation_p.Y403F	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	865					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTTATGGACATAGATGGTGGC	0.428													65	126					0	0	0	0	A	22030033	T	A	22030033	3	1	358	1	0	0	0	0	1	0	0	0	17175	1406	49	5	541	5	USP48	1	22030033	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08	9948158	22030033	227220588	3	68088											
CPT2	1376	broad.mit.edu	37	chr1	53676319	53676319	+	Frame_Shift_Del	DEL	C	C	-																															tggactcggcagtgttctgtCtctgcctagatgacttcccc																										TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:53676319delC	ENST00000371486.3	+	4	1488	c.973delC	c.(973-975)tcfs	p.L325fs	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	325					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AGTGTTCTGTCTCTGCCTAGA	0.512													28	50	---	---	---	---					-	53676319	C	-	53676319	7	5	358	1	0	1	0	1	0	0	0	0	3864	913	32	0	987	0	CPT2	1	53676319	Frame_Shift_Del	DEL	C	TCGA-CX-7082-01A-11D-2012-08	31646286	53676319	195574302	4	68089											
USP1	7398	broad.mit.edu	37	chr1	62907261	62907261	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctcggcaatacttgctaTcttaatagtatacttcaggt	12	15	6	8	1	3	0	1	0	2	0	4	0	3	0	0	2	3	3	0	2	8	8			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:62907261T>C	ENST00000339950.4	+	3	1088	c.273T>C	c.(271-273)taT>taC	p.Y91Y	USP1_ENST00000371146.1_Silent_p.Y91Y	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	91					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		ATACTTGCTATCTTAATAGTA	0.343													31	36					0	0	0	0	C	62907261	T	C	62907261	2	2	358	1	0	0	0	0	0	0	0	1	17136	1442	50	5		5	USP1	1	62907261	Silent	SNP	T	TCGA-CX-7082-01A-11D-2012-08	9230942	62907261	186343360	5	68090											
RWDD3	25950	broad.mit.edu	37	chr1	95710106	95710106	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgatggattgtggataaCtcttttgcatttagatcaca	11	15	10	5	0	2	2	1	1	1	1	2	5	2	5	0	3	2	1	0	3	2	6			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:95710106C>G	ENST00000429514.2	+	3	586	c.380C>G	c.(379-381)aCt>aGt	p.T127S	RWDD3_ENST00000263893.6_Missense_Mutation_p.T142S|RP11-57H12.5_ENST00000444665.1_RNA|RP11-57H12.6_ENST00000604534.1_3'UTR|RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000370202.4_Missense_Mutation_p.T142S			Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	142						cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		TTGTGGATAACTCTTTTGCAT	0.418													12	59					0	0	0	0	G	95710106	C	G	95710106	3	3	358	1	0	0	0	0	1	0	0	0	13842	565	20	4	431	4	RWDD3	1	95710106	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08	32802845	95710106	153540515	6	68091											
COL11A1	1301	broad.mit.edu	37	chr1	103345461	103345461	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggaatttccttcaacatcTaagtatgaaagctaggaata	16	12	7	6	0	2	1	1	1	1	0	3	3	3	3	1	2	2	2	1	2	8	6			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:103345461T>A	ENST00000358392.2	-	66	5405	c.5088A>T	c.(5086-5088)ttA>ttT	p.L1696F	COL11A1_ENST00000353414.4_Missense_Mutation_p.L1645F|COL11A1_ENST00000370096.3_Missense_Mutation_p.L1684F|COL11A1_ENST00000512756.1_Missense_Mutation_p.L1568F	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1684	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTCAACATCTAAGTATGAAA	0.378													11	23					0	0	0	0	A	103345461	T	A	103345461	3	1	358	1	0	0	0	0	1	0	0	0	3697	1519	53	5	376	5	COL11A1	1	103345461	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08	7635355	103345461	145905160	7	68092											
PTGFRN	5738	broad.mit.edu	37	chr1	117484584	117484584	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgttaaggcggactgccaaCgacgccgtggagctccacat	9	7	12	13	4	0	0	0	0	0	0	1	3	1	2	3	3	3	2	3	3	2	1	rs149801733		TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:117484584C>T	ENST00000393203.2	+	2	444	c.297C>T	c.(295-297)aaC>aaT	p.N99N		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	99	Ig-like C2-type 1.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GGACTGCCAACGACGCCGTGG	0.587													5	27					0	0	0	0	T	117484584	C	T	117484584	2	4	358	1	0	0	0	0	0	0	0	1	12830	535	19	1		1	PTGFRN	1	117484584	Silent	SNP	C	TCGA-CX-7082-01A-11D-2012-08	14139123	117484584	131766037	8	68093											
BCL9	607	broad.mit.edu	37	chr1	147096739	147096739	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttagccaaggacctggcaaCccaggaaacatgatgtttta	13	10	9	9	0	0	1	0	1	0	0	0	3	0	3	3	3	3	2	3	3	5	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:147096739C>T	ENST00000234739.3	+	10	5000	c.4260C>T	c.(4258-4260)aaC>aaT	p.N1420N		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1420					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GACCTGGCAACCCAGGAAACA	0.542			T	"IGH@, IGL@"	B-ALL								18	15					0	0	0	0	T	147096739	C	T	147096739	2	4	358	1	0	0	0	0	0	0	0	1	1385	506	18	4		4	BCL9	1	147096739	Silent	SNP	C	TCGA-CX-7082-01A-11D-2012-08	29612155	147096739	102153882	9	68094											
DCAF6	55827	broad.mit.edu	37	chr1	167973999	167973999	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaaaggcagtctgttgAggcatctggacaccacacac	13	7	10	11	0	2	2	0	2	2	0	2	3	2	3	1	3	1	3	1	3	2	1			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:167973999A>T	ENST00000367840.3	+	10	1440	c.1346A>T	c.(1345-1347)gAg>gTg	p.E449V	DCAF6_ENST00000312263.6_Missense_Mutation_p.E449V|DCAF6_ENST00000367843.3_Missense_Mutation_p.E449V|DCAF6_ENST00000432587.2_Missense_Mutation_p.E418V	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	449					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CAGTCTGTTGAGGCATCTGGA	0.423													36	14					0	0	0	0	T	167973999	A	T	167973999	3	4	358	1	0	0	0	0	1	0	0	0	4307	304	11	5	1384	5	DCAF6	1	167973999	Missense_Mutation	SNP	A	TCGA-CX-7082-01A-11D-2012-08	20877260	167973999	81276622	10	68095											
ZBTB37	84614	broad.mit.edu	37	chr1	173839375	173839375	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgaccatggagaaaggTgggaacatacaattggagat	15	6	14	6	1	0	2	0	0	0	2	0	6	0	3	1	5	2	1	1	5	4	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:173839375T>C	ENST00000367704.1	+	3	411	c.12T>C	c.(10-12)ggT>ggC	p.G4G	ZBTB37_ENST00000432989.1_Silent_p.G4G|ZBTB37_ENST00000367702.1_Silent_p.G4G|ZBTB37_ENST00000427304.1_Silent_p.G4G|ZBTB37_ENST00000367701.4_Silent_p.G4G			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						TGGAGAAAGGTGGGAACATAC	0.443													16	22					0	0	0	0	C	173839375	T	C	173839375	2	2	358	1	0	0	0	0	0	0	0	1	17633	1683	59	5		5	ZBTB37	1	173839375	Silent	SNP	T	TCGA-CX-7082-01A-11D-2012-08	5865376	173839375	75411246	11	68096											
EPRS	2058	broad.mit.edu	37	chr1	220206926	220206926	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagagacaggcaatgattGagttcattaattgtagaagt	14	12	10	5	0	2	4	2	2	0	2	2	5	2	4	0	1	0	3	0	1	4	5			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:220206926G>C	ENST00000366923.3	-	4	575	c.306C>G	c.(304-306)ctC>ctG	p.L102L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	102					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GGCAATGATTGAGTTCATTAA	0.343													20	77					0	0	0	0	C	220206926	G	C	220206926	2	2	358	1	0	0	0	0	0	0	0	1	5229	1277	45	2		2	EPRS	1	220206926	Silent	SNP	G	TCGA-CX-7082-01A-11D-2012-08	46367551	220206926	29043695	12	68097											
DISP1	84976	broad.mit.edu	37	chr1	223179194	223179194	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcacaaagttgtggcagAattgtgagagtgaagtgcaa	15	10	12	4	0	1	3	1	2	0	2	1	4	1	3	0	1	1	3	0	1	5	3			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:223179194A>G	ENST00000284476.6	+	8	4619	c.4455A>G	c.(4453-4455)agA>agG	p.R1485R		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1485					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GTTGTGGCAGAATTGTGAGAG	0.408													12	61					0	0	0	0	G	223179194	A	G	223179194	2	3	358	1	0	0	0	0	0	0	0	1	4576	243	9	5		5	DISP1	1	223179194	Silent	SNP	A	TCGA-CX-7082-01A-11D-2012-08	2972268	223179194	26071427	13	68098											
LYST	1130	broad.mit.edu	37	chr1	235860530	235860530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcactgggggaacccaCgtattccccccatttcaagc	9	8	10	14	1	1	0	1	0	0	0	2	2	2	2	4	3	3	2	4	3	3	3			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:235860530C>T	ENST00000389794.3	-	46	10591	c.10417G>A	c.(10417-10419)Gtg>Atg	p.V3473M	LYST_ENST00000389793.2_Missense_Mutation_p.V3473M|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3473					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGGGAACCCACGTATTCCCCC	0.468													50	13					0	0	0	0	T	235860530	C	T	235860530	3	4	358	1	0	0	0	0	1	0	0	0	9193	536	19	1	1020	1	LYST	1	235860530	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08	12681336	235860530	13390091	14	68099											
COLEC11	78989	broad.mit.edu	37	chr2	3691423	3691423	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggccgcgggggcacgctGagcatgcccaaggacgaggc	8	2	18	13	4	0	1	0	1	0	0	0	3	0	2	2	5	2	3	2	5	1	0			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:3691423G>T	ENST00000403096.3	+	6	944	c.453G>T	c.(451-453)ctG>ctT	p.L151L	COLEC11_ENST00000382062.2_Silent_p.L153L|COLEC11_ENST00000418971.2_Silent_p.L191L|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Silent_p.L103L|COLEC11_ENST00000402794.1_Silent_p.L127L|COLEC11_ENST00000349077.4_Silent_p.L177L|COLEC11_ENST00000402922.1_Silent_p.L127L|COLEC11_ENST00000236693.7_Silent_p.L174L	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	177	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GGGGCACGCTGAGCATGCCCA	0.667													19	26					1.01871e-10	3.54044e-10	1	0	T	3691423	G	T	3691423	2	4	358	1	0	0	0	0	0	0	0	1	3741	1277	45	2		2	COLEC11	2	3691423	Silent	SNP	G	TCGA-CX-7082-01A-11D-2012-08		3691423	239507950	15	68100											
KCNS3	3790	broad.mit.edu	37	chr2	18112633	18112633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgattcttgctgcagcaatCgctaccaggaacgcaaggag	11	9	11	10	2	1	1	0	1	1	0	2	3	1	3	1	2	5	5	1	2	4	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:18112633C>T	ENST00000403915.1	+	3	809	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.R120C			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	120					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.R120C(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAGCAATCGCTACCAGGA	0.507													15	78					0	0	0	0	T	18112633	C	T	18112633	3	4	358	1	0	0	0	0	1	0	0	0	8143	884	31	1	360	1	KCNS3	2	18112633	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08	14421210	18112633	225086740	16	68101											
ALK	238	broad.mit.edu	37	chr2	29456487	29456487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctgcccactcatgcaCgcttctgttcacacggattt	6	12	7	16	2	3	0	2	0	1	0	4	1	4	1	3	1	2	3	3	1	0	3			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:29456487C>A	ENST00000389048.3	-	14	3337	c.2431G>T	c.(2431-2433)Gtg>Ttg	p.V811L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	811					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.V811M(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CACTCATGCACGCTTCTGTTC	0.488			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				35	61					1.26612e-14	4.51121e-14	1	0	A	29456487	C	A	29456487	3	1	358	1	0	0	0	0	1	0	0	0	525	536	19	3	2495	3	ALK	2	29456487	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08	11343854	29456487	213742886	17	68102											
LRRTM1	347730	broad.mit.edu	37	chr2	80529787	80529787	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtggccgagctggcaggGggccccagatcactgcggtt	5	7	18	11	2	1	1	1	0	0	1	1	2	1	1	3	6	2	3	3	6	0	1			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:80529787G>T	ENST00000295057.3	-	2	1814	c.1158C>A	c.(1156-1158)ccC>ccA	p.P386P	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.P386P|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	386						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGCTGGCAGGGGGCCCCAGAT	0.726										HNSCC(69;0.2)			9	20					9.70103e-10	3.31713e-09	1	0	T	80529787	G	T	80529787	2	4	358	1	0	0	0	0	0	0	0	1	9103	1219	43	4		4	LRRTM1	2	80529787	Silent	SNP	G	TCGA-CX-7082-01A-11D-2012-08	51073300	80529787	162669586	18	68103											
SH3RF3	344558	broad.mit.edu	37	chr2	110015122	110015122	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagctgcaatgcctcccTgccctctgactccggcgctg	5	9	9	18	2	1	1	0	1	1	0	4	1	4	1	5	1	4	3	5	1	1	0			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:110015122T>G	ENST00000309415.6	+	4	1022	c.1022T>G	c.(1021-1023)cTg>cGg	p.L341R		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	341							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AATGCCTCCCTGCCCTCTGAC	0.617													3	7					0	0	0	0	G	110015122	T	G	110015122	3	3	358	1	0	0	0	0	1	0	0	0	14348	1580	55	5	1036	5	SH3RF3	2	110015122	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08	29485335	110015122	133184251	19	68104											
KIAA1715	80856	broad.mit.edu	37	chr2	176794733	176794733	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccacttagttcaggatCaggaatagaatcagctccag	12	11	8	10	0	4	1	3	0	1	1	6	3	5	3	2	2	1	2	2	2	4	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:176794733C>A	ENST00000272748.4	-	13	1496	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y	KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.D448Y	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	417						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AGTTCAGGATCAGGAATAGAA	0.428													24	61					1.64293e-13	5.80503e-13	1	0	A	176794733	C	A	176794733	3	1	358	1	0	0	0	0	1	0	0	0	8305	826	29	2	41	2	KIAA1715	2	176794733	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08	66779611	176794733	66404640	20	68105											
KIAA1715	80856	broad.mit.edu	37	chr2	176794780	176794780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagttggtttcaatcactGaggcttcctcattctcagtc	7	15	9	10	0	4	1	4	1	1	0	7	2	5	2	1	3	0	3	1	3	1	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:176794780G>A	ENST00000272748.4	-	13	1449	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L	KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.S432L	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	401						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTCAATCACTGAGGCTTCCTC	0.438													35	59					0	0	0	0	A	176794780	G	A	176794780	3	1	358	1	0	0	0	0	1	0	0	0	8305	1294	45	2	88	2	KIAA1715	2	176794780	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	47	176794780	66404593	21	68106											
TMEFF2	23671	broad.mit.edu	37	chr2	193049123	193049123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacaagtatctcactctgCtgtttgcatgcagcctgtcg	8	12	8	13	1	2	0	1	0	2	0	4	0	2	0	2	0	4	5	2	0	2	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:193049123C>T	ENST00000409056.3	-	3	368	c.369G>A	c.(367-369)caG>caA	p.Q123Q	TMEFF2_ENST00000272771.5_Silent_p.Q123Q|TMEFF2_ENST00000392314.1_Silent_p.Q123Q			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	123	Kazal-like 1.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TCTCACTCTGCTGTTTGCATG	0.473													25	43					0	0	0	0	T	193049123	C	T	193049123	2	4	358	1	0	0	0	0	0	0	0	1	16108	796	28	4		4	TMEFF2	2	193049123	Silent	SNP	C	TCGA-CX-7082-01A-11D-2012-08	16254343	193049123	50150250	22	68107											
DOCK10	55619	broad.mit.edu	37	chr2	225653885	225653885	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatcccatagagaacaTgccttgggaggaccaagcag	12	6	12	11	0	0	1	0	0	0	1	1	4	1	3	4	3	3	1	4	3	3	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:225653885T>A	ENST00000409592.3	-	48	5409	c.5296A>T	c.(5296-5298)Atg>Ttg	p.M1766L	DOCK10_ENST00000258390.7_Missense_Mutation_p.M1772L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1772	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATAGAGAACATGCCTTGGGAG	0.373													5	19					0	0	0	0	A	225653885	T	A	225653885	3	1	358	1	0	0	0	0	1	0	0	0	4721	1464	51	5	1282	5	DOCK10	2	225653885	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08	32604762	225653885	17545488	23	68108											
OXSM	54995	broad.mit.edu	37	chr3	25832618	25832618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtttttcggaactgtgcCaatatccagattgcataggc	11	12	10	8	1	0	1	0	0	0	1	2	3	1	2	2	2	3	2	2	2	5	5			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:25832618C>A	ENST00000280701.3	+	2	206	c.107C>A	c.(106-108)cCa>cAa	p.P36Q	OXSM_ENST00000449808.1_3'UTR|OXSM_ENST00000420173.2_Missense_Mutation_p.P36Q	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	36					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGAACTGTGCCAATATCCAGA	0.423													46	32					4.06502e-11	1.42444e-10	1	0	A	25832618	C	A	25832618	3	1	358	1	0	0	0	0	1	0	0	0	11406	594	21	4	109	4	OXSM	3	25832618	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08		25832618	172189812	24	68109											
CHDH	55349	broad.mit.edu	37	chr3	53854579	53854579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatggagggtgatagggcGggtgcatgcctgctgaatgt	8	10	18	5	1	0	3	0	3	0	0	0	4	0	4	1	4	3	2	1	4	3	1			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:53854579G>A	ENST00000315251.5	-	6	1479	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	348					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GTGATAGGGCGGGTGCATGCC	0.557													18	72					0	0	0	0	A	53854579	G	A	53854579	3	1	358	1	0	0	0	0	1	0	0	0	3362	1116	39	1	758	1	CHDH	3	53854579	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	28021961	53854579	144167851	25	68110											
GRAMD1C	54762	broad.mit.edu	37	chr3	113664258	113664258	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacagctgaagagctcacTcattatgcttcagaaaacgt	13	12	7	9	1	3	3	3	1	0	2	3	3	3	3	0	0	5	3	0	0	5	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:113664258T>G	ENST00000358160.4	+	18	2414	c.1922T>G	c.(1921-1923)cTc>cGc	p.L641R	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.L474R|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.L370R|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.L436R	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	641						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AAGAGCTCACTCATTATGCTT	0.323													24	50					0	0	0	0	G	113664258	T	G	113664258	3	3	358	1	0	0	0	0	1	0	0	0	6799	1551	54	5	1992	5	GRAMD1C	3	113664258	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08	59809679	113664258	84358172	26	68111											
KALRN	8997	broad.mit.edu	37	chr3	124211627	124211627	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggagtggatcaagaacaTtcgagaagtgattcaagaaa	17	7	12	5	1	2	4	2	1	0	3	3	7	2	6	0	2	1	1	0	2	5	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:124211627T>A	ENST00000360013.3	+	32	4851	c.4724T>A	c.(4723-4725)aTt>aAt	p.I1575N	KALRN_ENST00000460856.1_Missense_Mutation_p.I1566N|KALRN_ENST00000240874.3_Missense_Mutation_p.I1575N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1575	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCAAGAACATTCGAGAAGTG	0.463													24	46					0	0	0	0	A	124211627	T	A	124211627	3	1	358	1	0	0	0	0	1	0	0	0	8028	1493	52	5	4850	5	KALRN	3	124211627	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08	10547369	124211627	73810803	27	68112											
OSBPL11	114885	broad.mit.edu	37	chr3	125271261	125271261	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgggtggaagaactgctaAaaacactggatgctacctcg	12	8	11	10	1	0	1	0	0	0	1	1	3	0	3	2	3	5	2	2	3	6	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:125271261A>G	ENST00000296220.5	-	9	1707	c.1418T>C	c.(1417-1419)tTt>tCt	p.F473S		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	473					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						AGAACTGCTAAAAACACTGGA	0.453													15	27					0	0	0	0	G	125271261	A	G	125271261	3	3	358	1	0	0	0	0	1	0	0	0	11347	14	1	5	845	5	OSBPL11	3	125271261	Missense_Mutation	SNP	A	TCGA-CX-7082-01A-11D-2012-08	1059634	125271261	72751169	28	68113											
PLSCR1	5359	broad.mit.edu	37	chr3	146251261	146251261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcagcaactgctttaccttgGaatgctgtcggtggatactg	8	13	11	9	1	1	0	1	0	0	0	2	2	1	2	1	3	6	3	1	3	4	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:146251261G>C	ENST00000342435.4	-	3	500	c.90C>G	c.(88-90)ttC>ttG	p.F30L	PLSCR1_ENST00000487389.1_Missense_Mutation_p.F23L|PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000448787.2_Missense_Mutation_p.S22C	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	30					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						CTTTACCTTGGAATGCTGTCG	0.428													24	92					0	0	0	0	C	146251261	G	C	146251261	3	2	358	1	0	0	0	0	1	0	0	0	12181	1165	41	2	894	2	PLSCR1	3	146251261	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	20980000	146251261	51771169	29	68114											
AGTR1	185	broad.mit.edu	37	chr3	148458977	148458977	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagcttggtggtgatagTcatttacttttatatgaagc	12	15	9	5	0	1	2	1	2	0	0	1	2	1	2	0	2	4	1	0	2	6	7	rs150629733	byFrequency	TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:148458977T>C	ENST00000542281.1	+	4	601	c.155T>C	c.(154-156)gTc>gCc	p.V52A	AGTR1_ENST00000418473.2_Missense_Mutation_p.V52A|AGTR1_ENST00000497524.1_Missense_Mutation_p.V52A|AGTR1_ENST00000402260.1_Missense_Mutation_p.V52A|AGTR1_ENST00000475347.1_Missense_Mutation_p.V52A|AGTR1_ENST00000404754.2_Missense_Mutation_p.V52A|AGTR1_ENST00000349243.3_Missense_Mutation_p.V52A|AGTR1_ENST00000461609.1_Missense_Mutation_p.V52A|AGTR1_ENST00000474935.1_Missense_Mutation_p.V52A	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	52					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GTGGTGATAGTCATTTACTTT	0.378													20	73					0	0	0	0	C	148458977	T	C	148458977	3	2	358	1	0	0	0	0	1	0	0	0	401	1667	58	5	157	5	AGTR1	3	148458977	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08	2207716	148458977	49563453	30	68115											
PHC3	80012	broad.mit.edu	37	chr3	169824653	169824653	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatagtgcagaatcgttttGaccgcaaaaattcattagca	15	11	7	8	2	1	2	1	1	0	1	2	2	1	2	1	0	2	4	1	0	5	5			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:169824653G>T	ENST00000494943.1	-	12	2467	c.2399C>A	c.(2398-2400)tCa>tAa	p.S800*	PHC3_ENST00000495893.1_Nonsense_Mutation_p.S812*|PHC3_ENST00000467570.1_Nonsense_Mutation_p.S759*			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	800					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAATCGTTTTGACCGCAAAAA	0.373													13	124					9.31168e-06	3.13345e-05	1	0	T	169824653	G	T	169824653	4	4	358	1	0	0	0	0	0	1	0	0	11890	1294	45	2	568	2	PHC3	3	169824653	Nonsense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	21365676	169824653	28197777	31	68116											
PIK3CA	5290	broad.mit.edu	37	chr3	178921501	178921501	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatctacaaaatccctttGggttataaatagtgcactca	15	12	5	9	0	2	0	1	0	1	0	3	0	3	0	1	1	3	2	1	1	8	5			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:178921501G>C	ENST00000263967.3	+	5	1140	c.983G>C	c.(982-984)tGg>tCg	p.W328S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	328					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAATCCCTTTGGGTTATAAAT	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			28	328					0	0	0	0	C	178921501	G	C	178921501	3	2	358	1	0	0	0	0	1	0	0	0	11985	1357	47	4	997	4	PIK3CA	3	178921501	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	9096848	178921501	19100929	32	68117											
HRG	3273	broad.mit.edu	37	chr3	186395211	186395211	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgcacaccatcctcatGaacatgatacccatagacag	14	7	5	15	0	1	3	1	2	0	1	2	3	2	3	4	0	3	1	4	0	3	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:186395211G>T	ENST00000232003.4	+	7	1197	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	373	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ccatcctcatgaacatgatac	0.517													29	10					1.77063e-15	6.41665e-15	1	0	T	186395211	G	T	186395211	4	4	358	1	0	0	0	0	0	1	0	0	7404	1291	45	2	1143	2	HRG	3	186395211	Nonsense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	7473710	186395211	11627219	33	68118											
THAP6	152815	broad.mit.edu	37	chr4	76442145	76442145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccaaatattaaactgaaaCctggagtcataccttctatc	14	12	4	11	0	2	1	1	1	1	0	4	2	3	2	3	1	3	0	3	1	7	5			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr4:76442145C>T	ENST00000311638.3	+	3	312	c.244C>T	c.(244-246)Cct>Tct	p.P82S	THAP6_ENST00000514480.1_Missense_Mutation_p.P82S|THAP6_ENST00000507557.1_Missense_Mutation_p.P41S|THAP6_ENST00000504190.1_Missense_Mutation_p.P41S|THAP6_ENST00000507885.1_Missense_Mutation_p.P41S|THAP6_ENST00000508105.1_Missense_Mutation_p.P41S|THAP6_ENST00000502620.1_Missense_Mutation_p.P41S|THAP6_ENST00000507556.1_Missense_Mutation_p.P82S|THAP6_ENST00000380837.3_Missense_Mutation_p.P82S	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	82						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TAAACTGAAACCTGGAGTCAT	0.363													5	33					0	0	0	0	T	76442145	C	T	76442145	3	4	358	1	0	0	0	0	1	0	0	0	15942	507	18	4	250	4	THAP6	4	76442145	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08		76442145	114712131	34	68119											
C4orf29	80167	broad.mit.edu	37	chr4	128951815	128951815	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgcttatctttttaaacAaggactcttcaggtaagacg	12	14	8	7	1	3	1	1	0	2	1	3	2	3	2	0	2	2	2	0	2	6	7			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr4:128951815A>T	ENST00000388795.5	+	12	1488	c.1085A>T	c.(1084-1086)cAa>cTa	p.Q362L	C4orf29_ENST00000444616.1_Missense_Mutation_p.Q410L|C4orf29_ENST00000398965.1_Missense_Mutation_p.Q410L			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	410						extracellular region				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CTTTTTAAACAAGGACTCTTC	0.353													25	36					0	0	0	0	T	128951815	A	T	128951815	3	4	358	1	0	0	0	0	1	0	0	0	2280	130	5	5	1267	5	C4orf29	4	128951815	Missense_Mutation	SNP	A	TCGA-CX-7082-01A-11D-2012-08	52509670	128951815	62202461	35	68120											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184368144	184368144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgaagatgtgaaacagaAgcaaccttttttcaatagac	17	10	7	7	0	1	5	1	2	0	3	1	5	1	5	1	0	3	1	1	0	7	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr4:184368144A>G	ENST00000504169.1	+	3	1514	c.1307A>G	c.(1306-1308)aAg>aGg	p.K436R	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	436					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GTGAAACAGAAGCAACCTTTT	0.408													24	38					0	0	0	0	G	184368144	A	G	184368144	3	3	358	1	0	0	0	0	1	0	0	0	3191	72	3	5	1317	5	CDKN2AIP	4	184368144	Missense_Mutation	SNP	A	TCGA-CX-7082-01A-11D-2012-08	55416329	184368144	6786132	36	68121											
FAT1	2195	broad.mit.edu	37	chr4	187540589	187540589	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagagtggtggattatcaTtgaggtcggtaacgtccacc	11	10	12	8	2	1	2	1	1	0	1	3	3	2	3	2	4	1	1	2	4	3	3	rs139480903	by1000genomes	TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr4:187540589T>C	ENST00000441802.2	-	10	7360	c.7151A>G	c.(7150-7152)aAt>aGt	p.N2384S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2384	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGATTATCATTGAGGTCGGT	0.502										HNSCC(5;0.00058)			18	39					0	0	0	0	C	187540589	T	C	187540589	3	2	358	1	0	0	0	0	1	0	0	0	5734	1493	52	5	6687	5	FAT1	4	187540589	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08	3172445	187540589	3613687	37	68122											
SLC6A18	348932	broad.mit.edu	37	chr5	1244337	1244337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgccccagggctggtcTgcctggtctgcttcctctcc	2	11	10	18	0	3	0	0	0	3	0	5	0	4	0	6	3	3	2	6	3	0	1			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr5:1244337T>C	ENST00000324642.3	+	10	1468	c.1345T>C	c.(1345-1347)Tgc>Cgc	p.C449R	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	449					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)			AGGGCTGGTCTGCCTGGTCTG	0.627													26	37					0	0	0	0	C	1244337	T	C	1244337	3	2	358	1	0	0	0	0	1	0	0	0	14769	1580	55	5	1383	5	SLC6A18	5	1244337	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08		1244337	179670923	38	68123											
C5orf34	375444	broad.mit.edu	37	chr5	43506112	43506112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtaccaggcgaaggcaGctcttccctcccttcagttc	6	12	8	15	1	2	0	1	0	1	0	5	1	4	0	3	2	2	4	3	2	2	5			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr5:43506112G>C	ENST00000306862.2	-	4	1045	c.670C>G	c.(670-672)Ctg>Gtg	p.L224V	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	224										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GGCGAAGGCAGCTCTTCCCTC	0.423													50	88					0	0	0	0	C	43506112	G	C	43506112	3	2	358	1	0	0	0	0	1	0	0	0	2314	962	34	4	1286	4	C5orf34	5	43506112	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	42261775	43506112	137409148	39	68124											
ZNF366	167465	broad.mit.edu	37	chr5	71756463	71756463	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgagctgcttgaagagcttCccgcagtgcgtgcacgcgtg	6	9	14	12	4	0	3	0	2	0	1	1	3	1	3	1	0	5	5	1	0	1	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr5:71756463C>G	ENST00000318442.5	-	2	1351	c.861G>C	c.(859-861)ggG>ggC	p.G287G		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGAAGAGCTTCCCGCAGTGCG	0.627													23	50					0	0	0	0	G	71756463	C	G	71756463	2	3	358	1	0	0	0	0	0	0	0	1	17965	842	30	2		2	ZNF366	5	71756463	Silent	SNP	C	TCGA-CX-7082-01A-11D-2012-08	28250351	71756463	109158797	40	68125											
PCDHA10	56139	broad.mit.edu	37	chr5	140237238	140237238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctacagttccaggtgagCgcgcgcgatgggggcgtgcc	5	7	17	12	5	0	1	0	1	0	0	1	2	1	1	2	3	4	2	2	3	1	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr5:140237238C>T	ENST00000307360.5	+	1	1605	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGTGAGCGCGCGCGATG	0.682													54	39					0	0	0	0	T	140237238	C	T	140237238	2	4	358	1	0	0	0	0	0	0	0	1	11591	767	27	1		1	PCDHA10	5	140237238	Silent	SNP	C	TCGA-CX-7082-01A-11D-2012-08	68480775	140237238	40678022	41	68126											
PCDHB4	56131	broad.mit.edu	37	chr5	140502789	140502789	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaatttttacaccctggtAacagagagaccactggaccg	14	8	9	10	1	0	3	0	0	0	3	0	5	0	4	3	2	2	1	3	2	4	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr5:140502789A>T	ENST00000194152.1	+	1	1209	c.1209A>T	c.(1207-1209)gtA>gtT	p.V403V		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		403	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGGTAACAGAGAGAC	0.448													32	19					0	0	0	0	T	140502789	A	T	140502789	2	4	358	1	0	0	0	0	0	0	0	1	11615	349	13	5		5	PCDHB4	5	140502789	Silent	SNP	A	TCGA-CX-7082-01A-11D-2012-08	265551	140502789	40412471	42	68127											
HSPA1A	3303	broad.mit.edu	37	chr6	31785354	31785354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtgtgtaaccccatcatCagcggactgtaccagggtgc	9	8	12	12	1	2	0	2	0	0	0	2	1	2	1	3	3	4	2	3	3	2	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr6:31785354C>T	ENST00000375651.5	+	1	2064	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	HSPA1A_ENST00000458062.2_Silent_p.I516I	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	607					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						ACCCCATCATCAGCGGACTGT	0.632													30	82					0	0	0	0	T	31785354	C	T	31785354	2	4	358	1	0	0	0	0	0	0	0	1	7460	816	29	2		2	HSPA1A	6	31785354	Silent	SNP	C	TCGA-CX-7082-01A-11D-2012-08		31785354	139329713	43	68128											
RTN4IP1	84816	broad.mit.edu	37	chr6	107031256	107031256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacatgggccactggccaTgaaaaatgcccagcgataat	15	7	9	10	1	0	1	0	1	0	0	0	2	0	1	3	2	3	0	3	2	5	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr6:107031256T>C	ENST00000369063.3	-	8	1495	c.1030A>G	c.(1030-1032)Atg>Gtg	p.M344V	RTN4IP1_ENST00000539449.1_Silent_p.S220S|RTN4IP1_ENST00000498091.1_5'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	344						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		CCACTGGCCATGAAAAATGCC	0.413													20	28					0	0	0	0	C	107031256	T	C	107031256	3	2	358	1	0	0	0	0	1	0	0	0	13814	1464	51	5	168	5	RTN4IP1	6	107031256	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08	75245902	107031256	64083811	44	68129											
MACC1	346389	broad.mit.edu	37	chr7	20198105	20198105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggttgtaaagacactatCtgacataaacattacttgct	13	14	6	8	0	2	2	0	1	2	1	2	2	2	2	0	1	3	3	0	1	6	6			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr7:20198105C>T	ENST00000400331.5	-	5	2187	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N	MACC1_ENST00000589011.1_Missense_Mutation_p.D627N|MACC1_ENST00000332878.4_Missense_Mutation_p.D627N	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	627					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AAGACACTATCTGACATAAAC	0.353													33	76					0	0	0	0	T	20198105	C	T	20198105	3	4	358	1	0	0	0	0	1	0	0	0	9208	913	32	2	691	2	MACC1	7	20198105	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08		20198105	138940558	45	68130											
ZNF107	51427	broad.mit.edu	37	chr7	64166764	64166764	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataaaagattctttccagAaagtgacactgagaagatac	18	9	7	7	0	1	5	0	2	1	4	2	6	2	5	1	0	1	0	1	0	5	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr7:64166764A>G	ENST00000395391.1	+	4	1457	c.82A>G	c.(82-84)Aaa>Gaa	p.K28E	ZNF107_ENST00000344930.3_Missense_Mutation_p.K28E|ZNF107_ENST00000423627.1_Missense_Mutation_p.K28E			Q9UII5	ZN107_HUMAN	zinc finger protein 107	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTCTTTCCAGAAAGTGACACT	0.363													26	25					0	0	0	0	G	64166764	A	G	64166764	3	3	358	1	0	0	0	0	1	0	0	0	17810	247	9	5	88	5	ZNF107	7	64166764	Missense_Mutation	SNP	A	TCGA-CX-7082-01A-11D-2012-08	43968659	64166764	94971899	46	68131											
SMURF1	57154	broad.mit.edu	37	chr7	98638089	98638089	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccagcagctgcttgtagaAgggcactgtgaagcccccgt	8	7	12	14	1	0	2	0	1	0	1	0	2	0	2	4	1	4	5	4	1	3	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr7:98638089A>G	ENST00000361125.1	-	14	1859	c.1540T>C	c.(1540-1542)Ttc>Ctc	p.F514L	AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.F488L	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	514	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TGCTTGTAGAAGGGCACTGTG	0.542											OREG0018189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	55					0	0	0	0	G	98638089	A	G	98638089	3	3	358	1	0	0	0	0	1	0	0	0	14907	72	3	5	757	5	SMURF1	7	98638089	Missense_Mutation	SNP	A	TCGA-CX-7082-01A-11D-2012-08	34471325	98638089	60500574	47	68132											
SMURF1	57154	broad.mit.edu	37	chr7	98645385	98645385	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcgacagttcgtgtctgagGactttcagcttctggactag	8	12	12	9	2	3	1	1	1	2	0	4	4	3	3	0	2	2	2	0	2	1	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr7:98645385G>A	ENST00000361125.1	-	11	1471	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000482799.2_RNA|SMURF1_ENST00000361368.2_Silent_p.V358V	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	384					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CGTGTCTGAGGACTTTCAGCT	0.567													123	97					0	0	0	0	A	98645385	G	A	98645385	2	1	358	1	0	0	0	0	0	0	0	1	14907	1161	41	2		2	SMURF1	7	98645385	Silent	SNP	G	TCGA-CX-7082-01A-11D-2012-08	7296	98645385	60493278	48	68133											
CTTNBP2	83992	broad.mit.edu	37	chr7	117364750	117364750	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactatggataaagggaaaCttcctcctttgaaatcagct	15	11	7	8	0	1	1	1	1	0	0	3	3	3	3	2	2	3	1	2	2	6	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr7:117364750C>G	ENST00000160373.3	-	19	4389	c.4298G>C	c.(4297-4299)aGt>aCt	p.S1433T		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1433										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TAAAGGGAAACTTCCTCCTTT	0.418													6	29					0	0	0	0	G	117364750	C	G	117364750	3	3	358	1	0	0	0	0	1	0	0	0	4077	565	20	4	713	4	CTTNBP2	7	117364750	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08	18719365	117364750	41773913	49	68134											
SLC4A2	6522	broad.mit.edu	37	chr7	150771897	150771897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgccatcctggtcttcAttctcatcttcatggagaca	7	13	7	14	1	5	1	3	0	3	1	7	2	6	1	3	2	1	0	3	2	0	3			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr7:150771897A>G	ENST00000485713.1	+	19	4056	c.3016A>G	c.(3016-3018)Att>Gtt	p.I1006V	SLC4A2_ENST00000392826.2_Missense_Mutation_p.I997V|SLC4A2_ENST00000413384.2_Missense_Mutation_p.I1006V|SLC4A2_ENST00000310317.5_Missense_Mutation_p.I924V|SLC4A2_ENST00000461735.1_Missense_Mutation_p.I992V|RP11-148K1.12_ENST00000485974.1_RNA	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1006	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			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)		CCTGGTCTTCATTCTCATCTT	0.597													10	15					0	0	0	0	G	150771897	A	G	150771897	3	3	358	1	0	0	0	0	1	0	0	0	14742	217	8	5	3086	5	SLC4A2	7	150771897	Missense_Mutation	SNP	A	TCGA-CX-7082-01A-11D-2012-08	33407147	150771897	8366766	50	68135											
CCNE2	9134	broad.mit.edu	37	chr8	95897779	95897779	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcttggagtttaggagcaTagatttcctttaaattgtaa	12	16	8	5	0	1	1	0	0	1	1	2	3	2	3	1	2	1	3	1	2	5	9			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr8:95897779T>C	ENST00000520509.1	-	8	860	c.608A>G	c.(607-609)tAt>tGt	p.Y203C	CCNE2_ENST00000396133.3_Missense_Mutation_p.Y203C|CCNE2_ENST00000308108.4_Missense_Mutation_p.Y203C|CCNE2_ENST00000523476.1_5'UTR			O96020	CCNE2_HUMAN	cyclin E2	203					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TTTAGGAGCATAGATTTCCTT	0.318													26	31					0	0	0	0	C	95897779	T	C	95897779	3	2	358	1	0	0	0	0	1	0	0	0	2950	1406	49	5	626	5	CCNE2	8	95897779	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08		95897779	50466243	51	68136											
TRHR	7201	broad.mit.edu	37	chr8	110100298	110100298	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctacaagatctccaggaAttactactcacctatttacc	12	12	5	12	0	2	1	1	0	1	1	3	2	2	2	3	2	4	1	3	2	7	6			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr8:110100298A>T	ENST00000518632.1	+	2	908	c.557A>T	c.(556-558)aAt>aTt	p.N186I	TRHR_ENST00000311762.2_Missense_Mutation_p.N186I			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	186						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ATCTCCAGGAATTACTACTCA	0.403													14	51					0	0	0	0	T	110100298	A	T	110100298	3	4	358	1	0	0	0	0	1	0	0	0	16575	101	4	5	559	5	TRHR	8	110100298	Missense_Mutation	SNP	A	TCGA-CX-7082-01A-11D-2012-08	14202519	110100298	36263724	52	68137											
TAF2	6873	broad.mit.edu	37	chr8	120809913	120809913	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gataccaacctaaaaatgctCatggaagcataagcagccac	17	6	7	11	0	1	0	1	0	0	0	1	2	1	1	3	1	6	3	3	1	7	3			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr8:120809913C>G	ENST00000378164.2	-	7	1264	c.966G>C	c.(964-966)atG>atC	p.M322I		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	322					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TAAAAATGCTCATGGAAGCAT	0.338													11	25					0	0	0	0	G	120809913	C	G	120809913	3	3	358	1	0	0	0	0	1	0	0	0	15615	826	29	2	2713	2	TAF2	8	120809913	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08	10709615	120809913	25554109	53	68138											
IL11RA	3590	broad.mit.edu	37	chr9	34655639	34655639	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcaggtccgtgaagctGtgttgtcctggagtgactgc	6	10	15	10	1	0	2	0	2	0	0	2	3	2	3	3	3	2	3	3	3	1	1			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr9:34655639G>A	ENST00000555003.1	+	3	1494	c.138G>A	c.(136-138)ctG>ctA	p.L46L	IL11RA_ENST00000441545.2_Silent_p.L46L|IL11RA_ENST00000602473.1_Silent_p.L46L|GALT_ENST00000556278.1_Silent_p.L190L|IL11RA_ENST00000378817.4_Silent_p.L46L|IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000318041.9_Silent_p.L46L			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	46	Ig-like C2-type.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCGTGAAGCTGTGTTGTCCTG	0.582													10	12					0	0	0	0	A	34655639	G	A	34655639	2	1	358	1	0	0	0	0	0	0	0	1	7676	1364	48	4		4	IL11RA	9	34655639	Silent	SNP	G	TCGA-CX-7082-01A-11D-2012-08		34655639	106557792	54	68139											
COL15A1	1306	broad.mit.edu	37	chr9	101817638	101817638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgggcctccaggcctgcccgGaaatccaggcccggctgtga	6	6	14	15	2	0	1	0	1	0	0	2	2	2	2	6	5	1	1	6	5	1	0			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr9:101817638G>A	ENST00000375001.3	+	34	3599	c.3176G>A	c.(3175-3177)gGa>gAa	p.G1059E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1059	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGCCTGCCCGGAAATCCAGGC	0.542													27	63					0	0	0	0	A	101817638	G	A	101817638	3	1	358	1	0	0	0	0	1	0	0	0	3702	1174	41	2	3310	2	COL15A1	9	101817638	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	67161999	101817638	39395793	55	68140											
OR1L4	254973	broad.mit.edu	37	chr9	125486501	125486501	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatctgcttcacaacagtcaTagtgcctaagatgctggtga	11	12	9	9	0	3	2	2	1	1	1	3	2	3	2	1	1	4	2	1	1	4	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr9:125486501T>C	ENST00000259466.1	+	1	233	c.233T>C	c.(232-234)aTa>aCa	p.I78T		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ACAACAGTCATAGTGCCTAAG	0.443													34	100					0	0	0	0	C	125486501	T	C	125486501	3	2	358	1	0	0	0	0	1	0	0	0	11036	1406	49	5	235	5	OR1L4	9	125486501	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08	23668863	125486501	15726930	56	68141											
SURF2	6835	broad.mit.edu	37	chr9	136227265	136227266	+	Frame_Shift_Del	DEL	GA	GA	-																															aaggccactgatgagagcagGagagagacgaccgtgtaccg																										TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr9:136227265_136227266delGA	ENST00000371964.4	+	5	683_684	c.642_643delGA	c.(640-645)aggafs	p.RR214fs		NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN	surfeit 2	214							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		ATGAGAGCAGGAGAGAGACGAC	0.554													9	29	---	---	---	---					-	136227266	GA	-	136227265	7	5	358	1	0	1	0	1	0	0	0	0	15494	1165	41	0	660	0	SURF2	9	136227265	Frame_Shift_Del	DEL	GA	TCGA-CX-7082-01A-11D-2012-08	10740764	136227265	4986166	57	68142											
SLC2A6	11182	broad.mit.edu	37	chr9	136338606	136338606	+	Nonsense_Mutation	SNP	G	G	A																															agcgggtgctgccaggggctGcgccaagtccccccaggact																										TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr9:136338606G>A	ENST00000371899.4	-	8	1230	c.1153C>T	c.(1153-1155)Cag>Tag	p.Q385*	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Intron	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	385						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCCAGGGGCTGCGCCAAGTCC	0.662													8	20					0	0	0	0	A	136338606	G	A	136338606	4	1	358	1	0	0	0	0	0	1	0	0	14637	1328	46	4	382	4	SLC2A6	9	136338606	Nonsense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	111341	136338606	4874825	58	68143	831	2									
SLC2A6	11182	broad.mit.edu	37	chr9	136338607	136338607	+	Silent	SNP	C	C	T																															gcgggtgctgccaggggctgCgccaagtccccccaggactc																										TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr9:136338607C>T	ENST00000371899.4	-	8	1229	c.1152G>A	c.(1150-1152)gcG>gcA	p.A384A	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Intron	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	384						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CCAGGGGCTGCGCCAAGTCCC	0.662													8	20					0	0	0	0	T	136338607	C	T	136338607	2	4	358	1	0	0	0	0	0	0	0	1	14637	755	27	1		1	SLC2A6	9	136338607	Silent	SNP	C	TCGA-CX-7082-01A-11D-2012-08	1	136338607	4874824	59	68144	831	2									
GTPBP4	23560	broad.mit.edu	37	chr10	1038576	1038576	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgatagactttcacaaattCtaacagatttccccaaattg	15	13	4	9	0	2	3	1	1	1	2	3	3	3	3	2	0	1	0	2	0	4	6			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr10:1038576C>G	ENST00000360803.4	+	2	278	c.196C>G	c.(196-198)Cta>Gta	p.L66V	GTPBP4_ENST00000545048.1_Missense_Mutation_p.L19V|GTPBP4_ENST00000538293.1_5'UTR|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	66					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTCACAAATTCTAACAGATTT	0.348													15	24					0	0	0	0	G	1038576	C	G	1038576	3	3	358	1	0	0	0	0	1	0	0	0	6932	912	32	2	202	2	GTPBP4	10	1038576	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08		1038576	134496171	60	68145											
PRKG1	5592	broad.mit.edu	37	chr10	54040637	54040637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccaaaggaatcatttacAgggacctcaagccagaaaat	17	8	7	9	0	2	1	2	0	0	1	3	3	3	3	3	2	2	0	3	2	6	3			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr10:54040637A>G	ENST00000373980.4	+	13	1909	c.1492A>G	c.(1492-1494)Agg>Ggg	p.R498G	PRKG1_ENST00000373975.2_Missense_Mutation_p.R201G|PRKG1_ENST00000401604.2_Missense_Mutation_p.R483G|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.R471G|PRKG1-AS1_ENST00000452247.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	483	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AATCATTTACAGGGACCTCAA	0.423													3	82					0	0	0	0	G	54040637	A	G	54040637	3	3	358	1	0	0	0	0	1	0	0	0	12602	179	7	5	1812	5	PRKG1	10	54040637	Missense_Mutation	SNP	A	TCGA-CX-7082-01A-11D-2012-08	53002061	54040637	81494110	61	68146											
SGPL1	8879	broad.mit.edu	37	chr10	72610941	72610941	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgttttaagctcaccAggaagatgcccattattggt	13	12	9	7	0	1	2	1	0	0	2	1	3	1	3	2	2	2	2	2	2	4	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr10:72610941A>T	ENST00000373202.3	+	4	435	c.235A>T	c.(235-237)Agg>Tgg	p.R79W		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	79					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TAAGCTCACCAGGAAGATGCC	0.328													28	45					0	0	0	0	T	72610941	A	T	72610941	3	4	358	1	0	0	0	0	1	0	0	0	14305	179	7	5	245	5	SGPL1	10	72610941	Missense_Mutation	SNP	A	TCGA-CX-7082-01A-11D-2012-08	18570304	72610941	62923806	62	68147											
SMC3	9126	broad.mit.edu	37	chr10	112363045	112363045	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatggtgtaaagttcagaaaTaaggtaattttattttacat	15	17	7	2	0	1	1	1	0	0	1	1	1	1	1	0	2	1	3	0	2	8	9			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr10:112363045T>A	ENST00000361804.4	+	28	3705	c.3579T>A	c.(3577-3579)aaT>aaA	p.N1193K		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1193					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGTTCAGAAATAAGGTAATTT	0.279													10	18					0	0	0	0	A	112363045	T	A	112363045	3	1	358	1	0	0	0	0	1	0	0	0	14872	1403	49	5	3689	5	SMC3	10	112363045	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08	39752104	112363045	23171702	63	68148											
HMX3	340784	broad.mit.edu	37	chr10	124895904	124895904	+	Frame_Shift_Del	DEL	C	C	-																															cgcgcactacctggagcgctCcccagcctggtggtacccct																										TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr10:124895904delC	ENST00000357878.5	+	1	427	c.338delC	c.(337-339)tcfs	p.S113fs		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	113					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CTGGAGCGCTCCCCAGCCTGG	0.687													2	4	---	---	---	---					-	124895904	C	-	124895904	7	5	358	1	0	1	0	1	0	0	0	0	7298	855	30	0	340	0	HMX3	10	124895904	Frame_Shift_Del	DEL	C	TCGA-CX-7082-01A-11D-2012-08	12532859	124895904	10638843	64	68149											
OR10Q1	219960	broad.mit.edu	37	chr11	57995517	57995517	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtagaccaacgcgatttgGctgtcctcatcctctgaggt	7	12	11	11	2	2	2	1	1	1	1	4	3	4	2	3	2	1	2	3	2	2	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr11:57995517G>A	ENST00000316770.2	-	1	873	c.831C>T	c.(829-831)agC>agT	p.S277S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				ACGCGATTTGGCTGTCCTCAT	0.557													28	60					0	0	0	0	A	57995517	G	A	57995517	2	1	358	1	0	0	0	0	0	0	0	1	10987	1194	42	4		4	OR10Q1	11	57995517	Silent	SNP	G	TCGA-CX-7082-01A-11D-2012-08		57995517	77010999	65	68150											
RSF1	51773	broad.mit.edu	37	chr11	77411780	77411780	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaccttgcttactttagAatttgtatctttctctgatt	7	23	4	7	0	2	2	0	1	2	1	3	2	2	2	1	0	3	2	1	0	5	10			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr11:77411780A>C	ENST00000308488.6	-	6	2796	c.2494T>G	c.(2494-2496)Tct>Gct	p.S832A	RSF1_ENST00000360355.2_Missense_Mutation_p.S801A|RSF1_ENST00000480887.1_Missense_Mutation_p.S580A			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	832					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTTACTTTAGAATTTGTATCT	0.284													24	16					0	0	0	0	C	77411780	A	C	77411780	3	2	358	1	0	0	0	0	1	0	0	0	13784	246	9	5	1875	5	RSF1	11	77411780	Missense_Mutation	SNP	A	TCGA-CX-7082-01A-11D-2012-08	19416263	77411780	57594736	66	68151											
MAML2	84441	broad.mit.edu	37	chr11	95825060	95825060	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagtagagcccttacctgtCtctgttgttgggagacttgg	6	14	13	8	0	1	2	0	0	1	2	2	3	1	2	2	2	2	4	2	2	3	6			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr11:95825060C>G	ENST00000524717.1	-	2	3419	c.2135G>C	c.(2134-2136)aGa>aCa	p.R712T		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	712					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCTTACCTGTCTCTGTTGTTG	0.443			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								9	6					0	0	0	0	G	95825060	C	G	95825060	3	3	358	1	0	0	0	0	1	0	0	0	9275	913	32	2	1351	2	MAML2	11	95825060	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08	18413280	95825060	39181456	67	68152											
PDGFD	80310	broad.mit.edu	37	chr11	103780424	103780424	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggatgtgcacattctcttAtcgaggtggtcttgagctgc	8	13	12	8	1	2	1	0	1	2	0	4	3	2	2	0	3	3	2	0	3	2	3			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr11:103780424A>T	ENST00000302251.5	-	7	1544	c.1093T>A	c.(1093-1095)Taa>Aaa	p.*365K	PDGFD_ENST00000393158.2_Nonstop_Mutation_p.*371K	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	0					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		ACATTCTCTTATCGAGGTGGT	0.443													10	68					0	0	0	0	T	103780424	A	T	103780424	4	4	358	1	0	0	0	0	0	0	0	0	11731	462	16	5	5	5	PDGFD	11	103780424	Nonstop_Mutation	SNP	A	TCGA-CX-7082-01A-11D-2012-08	7955364	103780424	31226092	68	68153											
VSIG2	23584	broad.mit.edu	37	chr11	124618415	124618415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caatcagagctccggccactCggccttgggagggttctaag	8	8	13	12	2	2	1	1	0	1	1	4	2	3	2	3	4	1	2	3	4	2	3			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr11:124618415C>G	ENST00000403470.1	-	6	777	c.722G>C	c.(721-723)cGa>cCa	p.R241P	VSIG2_ENST00000326621.5_Missense_Mutation_p.R241P			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	241						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TCCGGCCACTCGGCCTTGGGA	0.607													25	13					0	0	0	0	G	124618415	C	G	124618415	3	3	358	1	0	0	0	0	1	0	0	0	17320	884	31	3	269	3	VSIG2	11	124618415	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08	20837991	124618415	10388101	69	68154											
STT3A	3703	broad.mit.edu	37	chr11	125479465	125479465	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tactattttgacctgcagctCctcgtcttcatgtttccagg	6	16	7	12	1	2	1	1	1	1	0	5	1	4	1	3	1	3	3	3	1	2	6			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr11:125479465C>T	ENST00000392708.4	+	10	1257	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	STT3A_ENST00000529196.1_Silent_p.L366L|STT3A_ENST00000531491.1_Silent_p.L274L	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	366					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ACCTGCAGCTCCTCGTCTTCA	0.453													37	31					0	0	0	0	T	125479465	C	T	125479465	2	4	358	1	0	0	0	0	0	0	0	1	15423	842	30	2		2	STT3A	11	125479465	Silent	SNP	C	TCGA-CX-7082-01A-11D-2012-08	861050	125479465	9527051	70	68155											
PZP	5858	broad.mit.edu	37	chr12	9307319	9307319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggctggctgggccgtgaGataagcgaggagcacatagg	9	5	20	7	2	0	1	0	1	0	1	0	4	0	2	1	6	2	3	1	6	2	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:9307319G>T	ENST00000261336.2	-	29	3695	c.3667C>A	c.(3667-3669)Ctc>Atc	p.L1223I	PZP_ENST00000381997.2_Missense_Mutation_p.L1009I	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGGGCCGTGAGATAAGCGAGG	0.582													20	26					3.62473e-10	1.2495e-09	1	0	T	9307319	G	T	9307319	3	4	358	1	0	0	0	0	1	0	0	0	12951	942	33	2	813	2	PZP	12	9307319	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08		9307319	124544576	71	68156											
KRT86	3892	broad.mit.edu	37	chr12	52699946	52699946	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggagggtgccctgcagAaggccaagcaggacatggcc	10	4	16	11	0	0	1	0	0	0	1	0	3	0	3	3	5	4	3	3	5	2	0			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:52699946A>G	ENST00000293525.5	+	7	1181	c.1129A>G	c.(1129-1131)Aag>Gag	p.K377E	KRT86_ENST00000544024.1_Missense_Mutation_p.K377E|KRT86_ENST00000423955.2_Missense_Mutation_p.K377E	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	377	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCCCTGCAGAAGGCCAAGCA	0.642											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	76					0	0	0	0	G	52699946	A	G	52699946	3	3	358	1	0	0	0	0	1	0	0	0	8552	247	9	5	1155	5	KRT86	12	52699946	Missense_Mutation	SNP	A	TCGA-CX-7082-01A-11D-2012-08	43392627	52699946	81151949	72	68157											
TMEM194A	23306	broad.mit.edu	37	chr12	57457026	57457026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgaaacacaggcccatcaGctgcaaggtccaggtcagca	13	5	10	13	0	2	1	2	1	0	0	3	1	3	1	2	3	4	3	2	3	2	0	rs148717635	byFrequency	TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:57457026G>A	ENST00000300128.4	-	7	879	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	TMEM194A_ENST00000379391.3_Silent_p.L213L	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	286						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGGCCCATCAGCTGCAAGGTC	0.443													52	81					0	0	0	0	A	57457026	G	A	57457026	2	1	358	1	0	0	0	0	0	0	0	1	16210	962	34	4		4	TMEM194A	12	57457026	Silent	SNP	G	TCGA-CX-7082-01A-11D-2012-08	4757080	57457026	76394869	73	68158											
AGAP2	116986	broad.mit.edu	37	chr12	58124681	58124681	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggccgcttgcccgggactTtgactgttgttcgcagcaag	5	10	15	11	3	0	1	0	1	0	0	1	2	0	2	2	3	2	5	2	3	1	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:58124681T>G	ENST00000257897.3	-	11	1278	c.1193A>C	c.(1192-1194)aAa>aCa	p.K398T	AGAP2_ENST00000547588.1_Missense_Mutation_p.K734T	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	734					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						GCCCGGGACTTTGACTGTTGT	0.592													3	7					0	0	0	0	G	58124681	T	G	58124681	3	3	358	1	0	0	0	0	1	0	0	0	368	1841	64	5	1413	5	AGAP2	12	58124681	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08	667655	58124681	75727214	74	68159											
XPOT	11260	broad.mit.edu	37	chr12	64828639	64828639	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgtccccgcatgtttcCtagcacctttaaaacaaacc	12	11	4	14	1	0	0	0	0	0	0	2	0	2	0	5	0	3	3	5	0	4	5			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:64828639C>G	ENST00000332707.5	+	21	3164	c.2635C>G	c.(2635-2637)Cta>Gta	p.L879V		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	879	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CGCATGTTTCCTAGCACCTTT	0.378													36	59					0	0	0	0	G	64828639	C	G	64828639	3	3	358	1	0	0	0	0	1	0	0	0	17546	680	24	4	2713	4	XPOT	12	64828639	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08	6703958	64828639	69023256	75	68160											
GRIP1	23426	broad.mit.edu	37	chr12	66932903	66932903	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaagaaccactctttctcCcacattcttcagcaagctga	11	12	4	14	0	5	2	2	1	3	1	6	2	5	2	2	0	3	2	2	0	3	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:66932903C>A	ENST00000359742.4	-	4	613	c.373G>T	c.(373-375)Gga>Tga	p.G125*	GRIP1_ENST00000286445.7_Nonsense_Mutation_p.G125*|GRIP1_ENST00000398016.3_Nonsense_Mutation_p.G125*			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	125	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ACTCTTTCTCCCACATTCTTC	0.498													41	89					6.48837e-15	2.33141e-14	1	0	A	66932903	C	A	66932903	4	1	358	1	0	0	0	0	0	1	0	0	6837	632	22	4	2941	4	GRIP1	12	66932903	Nonsense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08	2104264	66932903	66918992	76	68161											
PTPRB	5787	broad.mit.edu	37	chr12	70983891	70983891	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgttgagcagcaccaCagaatcattgaagagtagga	15	8	12	6	0	1	5	1	3	0	2	1	6	1	6	1	1	2	4	1	1	3	3			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:70983891C>A	ENST00000334414.6	-	8	1947	c.1903G>T	c.(1903-1905)Gtg>Ttg	p.V635L	PTPRB_ENST00000538708.1_Missense_Mutation_p.V417L|PTPRB_ENST00000261266.5_Missense_Mutation_p.V417L|PTPRB_ENST00000551525.1_Missense_Mutation_p.V634L|PTPRB_ENST00000550358.1_Missense_Mutation_p.V635L|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	417	Fibronectin type-III 7.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCAGCACCACAGAATCATTG	0.512											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	78					2.43468e-25	8.89918e-25	1	0	A	70983891	C	A	70983891	3	1	358	1	0	0	0	0	1	0	0	0	12878	478	17	4	4852	4	PTPRB	12	70983891	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08	4050988	70983891	62868004	77	68162											
DNAH10	196385	broad.mit.edu	37	chr12	124270320	124270320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacgggtctggcttccacGtggtcctggacaccatcccc	5	8	11	17	3	1	0	0	0	1	0	4	1	4	1	5	4	0	2	5	4	0	1			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:124270320G>A	ENST00000409039.3	+	9	1100	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	359	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGCTTCCACGTGGTCCTGGA	0.537													23	46					0	0	0	0	A	124270320	G	A	124270320	3	1	358	1	0	0	0	0	1	0	0	0	4635	1145	40	1	1109	1	DNAH10	12	124270320	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	53286429	124270320	9581575	78	68163											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20221396	20221396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccggaggttgagcggggaaGagagaggcctctggtccacg	8	5	19	9	3	1	3	0	1	1	2	2	6	2	5	3	6	1	1	3	6	1	1			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr13:20221396G>A	ENST00000361479.5	+	3	1251	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E395K	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	395					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GAGCGGGGAAGAGAGAGGCCT	0.542													5	48					0	0	0	0	A	20221396	G	A	20221396	3	1	358	1	0	0	0	0	1	0	0	0	9797	943	33	2	1193	2	MPHOSPH8	13	20221396	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08		20221396	94948482	79	68164											
OLFM4	10562	broad.mit.edu	37	chr13	53624472	53624472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactcaaactctccctaatGctgcctataataaccgcttt	11	13	4	13	1	2	1	1	1	1	0	3	1	2	1	3	0	4	2	3	0	5	5			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr13:53624472G>A	ENST00000219022.2	+	5	1177	c.1099G>A	c.(1099-1101)Gct>Act	p.A367T		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	367	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TCTCCCTAATGCTGCCTATAA	0.408													32	46					0	0	0	0	A	53624472	G	A	53624472	3	1	358	1	0	0	0	0	1	0	0	0	10926	1319	46	4	1117	4	OLFM4	13	53624472	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	33403076	53624472	61545406	80	68165											
MDGA2	161357	broad.mit.edu	37	chr14	47351355	47351355	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagctctgtcaagttatatgTaattaattctcccttttgaa	11	18	5	7	0	3	1	1	1	2	0	4	1	3	1	1	0	1	3	1	0	7	8			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr14:47351355T>A	ENST00000426342.1	-	11	2160	c.1414A>T	c.(1414-1416)Aca>Tca	p.T472S	MDGA2_ENST00000357362.3_Missense_Mutation_p.T472S|MDGA2_ENST00000439988.2_Missense_Mutation_p.T701S|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000399232.2_Missense_Mutation_p.T770S	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	701	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAGTTATATGTAATTAATTCT	0.373													18	17					0	0	0	0	A	47351355	T	A	47351355	3	1	358	1	0	0	0	0	1	0	0	0	9476	1638	57	5	797	5	MDGA2	14	47351355	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08		47351355	59998185	81	68166											
EIF2AK4	440275	broad.mit.edu	37	chr15	40295429	40295429	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactccactactgcttcccCgaaacagacaaatatatgag	14	9	6	12	1	0	2	0	1	0	1	2	3	2	2	3	0	4	2	3	0	6	5			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr15:40295429C>T	ENST00000263791.5	+	23	3314	c.3271C>T	c.(3271-3273)Cga>Tga	p.R1091*	EIF2AK4_ENST00000559311.1_3'UTR|EIF2AK4_ENST00000382727.2_Nonsense_Mutation_p.R1063*	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1091	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACTGCTTCCCCGAAACAGACA	0.473													19	41					0	0	0	0	T	40295429	C	T	40295429	4	4	358	1	0	0	0	0	0	1	0	0	5035	644	23	1	3361	1	EIF2AK4	15	40295429	Nonsense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08		40295429	62235963	82	68167											
ABCC12	94160	broad.mit.edu	37	chr16	48174830	48174830	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttggtgaatgagaactGtctgtaaaacagcatggtgg	12	11	14	4	0	1	2	0	2	1	1	1	4	1	3	0	4	3	2	0	4	4	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr16:48174830G>A	ENST00000416054.1	-	4	430	c.423_splice	c.e4-1	p.T142_splice	ABCC12_ENST00000311303.3_Intron|ABCC12_ENST00000448542.1_Splice_Site_p.T142_splice			Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	142	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AATGAGAACTGTCTGTAAAAC	0.527													9	29					0	0	0	0	A	48174830	G	A	48174830	5	1	358	1	0	0	0	0	0	0	1	0	52	1392	48	4		4	ABCC12	16	48174830	Splice_Site	SNP	G	TCGA-CX-7082-01A-11D-2012-08		48174830	42179923	83	68168											
CENPT	80152	broad.mit.edu	37	chr16	67865170	67865170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcaaaaaggcacccacgtCtacagctcggcgggctggag	10	4	13	14	4	1	0	0	0	1	0	2	1	1	1	2	4	2	4	2	4	3	1			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr16:67865170C>T	ENST00000562787.1	-	10	1200	c.652G>A	c.(652-654)Gac>Aac	p.D218N	CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000440851.2_Missense_Mutation_p.D218N|CENPT_ENST00000445712.2_Missense_Mutation_p.D115N|CENPT_ENST00000564817.1_Missense_Mutation_p.D218N|CENPT_ENST00000219172.3_Missense_Mutation_p.D218N	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	218					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCACCCACGTCTACAGCTCGG	0.607													37	31					0	0	0	0	T	67865170	C	T	67865170	3	4	358	1	0	0	0	0	1	0	0	0	3271	913	32	2	1061	2	CENPT	16	67865170	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08	19690340	67865170	22489583	84	68169											
CBFA2T3	863	broad.mit.edu	37	chr16	88951552	88951552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctccaggcggtagtgcGgcggcggtgtgggctgcggt	2	9	20	10	5	0	0	0	0	0	0	2	0	2	0	2	7	2	2	2	7	1	1	rs151180006		TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr16:88951552G>A	ENST00000268679.4	-	7	1415	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L	RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.P264L|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.P254L|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P302L|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.P254L	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	340	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCGGTAGTGCGGCGGCGGTGT	0.697			T	RUNX1	AML								7	19					0	0	0	0	A	88951552	G	A	88951552	3	1	358	1	0	0	0	0	1	0	0	0	2723	1116	39	1	966	1	CBFA2T3	16	88951552	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	21086382	88951552	1403201	85	68170											
ABR	29	broad.mit.edu	37	chr17	1028581	1028581	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccgccctggctgcgggcGctgagctgcggggacatggt	3	6	17	15	4	0	1	0	1	0	0	0	2	0	2	3	5	3	3	3	5	0	0			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr17:1028581G>A	ENST00000544583.2	-	2	644	c.45C>T	c.(43-45)agC>agT	p.S15S	ABR_ENST00000302538.5_Silent_p.S61S|ABR_ENST00000574437.1_Silent_p.S15S	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	61					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGCTGCGGGCGCTGAGCTGCG	0.662													33	70					0	0	0	0	A	1028581	G	A	1028581	2	1	358	1	0	0	0	0	0	0	0	1	99	1078	38	1		1	ABR	17	1028581	Silent	SNP	G	TCGA-CX-7082-01A-11D-2012-08		1028581	80166629	86	68171											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	13					0	0	0	0	A	7578212	G	A	7578212	4	1	358	1	0	0	0	0	0	1	0	0	16476	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	6549631	7578212	73616998	87	68172											
SLC47A2	146802	broad.mit.edu	37	chr17	19583338	19583338	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctgctgctgccggccTgaatgtttcttagcctaaag	6	13	10	12	1	2	1	0	1	2	0	2	1	2	1	3	1	5	4	3	1	4	3			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr17:19583338T>G	ENST00000350657.5	-	17	1623	c.1449A>C	c.(1447-1449)tcA>tcC	p.S483S	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Silent_p.S505S	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	505						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GCTGCCGGCCTGAATGTTTCT	0.498													14	24					0	0	0	0	G	19583338	T	G	19583338	2	3	358	1	0	0	0	0	0	0	0	1	14736	1567	55	5		5	SLC47A2	17	19583338	Silent	SNP	T	TCGA-CX-7082-01A-11D-2012-08	12005126	19583338	61611872	88	68173											
NXPH3	11248	broad.mit.edu	37	chr17	47656378	47656378	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagctgtagagttccacCaggaacagcagatcttcatc	13	9	9	10	0	2	2	1	0	1	2	4	3	3	3	2	1	3	5	2	1	4	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr17:47656378C>T	ENST00000328741.5	+	2	837	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	NXPH3_ENST00000513748.1_Nonsense_Mutation_p.Q159*	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	159	IV (linker domain).				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					AGAGTTCCACCAGGAACAGCA	0.567													5	77					0	0	0	0	T	47656378	C	T	47656378	4	4	358	1	0	0	0	0	0	1	0	0	10863	595	21	4	481	4	NXPH3	17	47656378	Nonsense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08	28073040	47656378	33538832	89	68174											
SS18	6760	broad.mit.edu	37	chr18	23632698	23632698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctctgtgatgatggcacaGaatggttgtaacctcccatg	9	12	11	9	0	1	3	0	2	1	1	2	3	2	3	2	2	2	4	2	2	2	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr18:23632698G>A	ENST00000415083.2	-	5	552	c.497C>T	c.(496-498)tCt>tTt	p.S166F	SS18_ENST00000545952.1_Missense_Mutation_p.S114F|SS18_ENST00000542743.1_Missense_Mutation_p.S114F|SS18_ENST00000542420.2_Missense_Mutation_p.S143F|SS18_ENST00000539849.1_Missense_Mutation_p.S84F|SS18_ENST00000269137.7_Missense_Mutation_p.S166F|SS18_ENST00000585241.1_5'UTR	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	166	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TGATGGCACAGAATGGTTGTA	0.458			T	"SSX1,  SSX2"	synovial sarcoma								48	92					0	0	0	0	A	23632698	G	A	23632698	3	1	358	1	0	0	0	0	1	0	0	0	15265	942	33	2	787	2	SS18	18	23632698	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08		23632698	54444550	90	68175											
RTTN	25914	broad.mit.edu	37	chr18	67843922	67843922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgccttaccttttcaacagGgagaagcgtttgtagcagtc	9	12	10	10	1	1	1	1	0	0	1	2	2	1	1	2	1	5	3	2	1	4	5			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr18:67843922G>A	ENST00000255674.6	-	11	1751	c.1465C>T	c.(1465-1467)Cct>Tct	p.P489S	RTTN_ENST00000437017.1_Missense_Mutation_p.P489S|RTTN_ENST00000454359.1_Missense_Mutation_p.P489S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	489							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTTTCAACAGGGAGAAGCGTT	0.418													26	59					0	0	0	0	A	67843922	G	A	67843922	3	1	358	1	0	0	0	0	1	0	0	0	13822	1232	43	4	5371	4	RTTN	18	67843922	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	44211224	67843922	10233326	91	68176											
MUC16	94025	broad.mit.edu	37	chr19	9046408	9046408	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatctgtgaagtcaccatCtctggtgcaccaggtgagat	9	11	12	9	0	3	3	1	3	2	1	4	4	3	3	2	2	1	1	2	2	1	0			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:9046408C>T	ENST00000397910.4	-	5	35426	c.35223G>A	c.(35221-35223)gaG>gaA	p.E11741E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11743	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						AAGTCACCATCTCTGGTGCAC	0.493													44	52					0	0	0	0	T	9046408	C	T	9046408	2	4	358	1	0	0	0	0	0	0	0	1	10043	912	32	2		2	MUC16	19	9046408	Silent	SNP	C	TCGA-CX-7082-01A-11D-2012-08		9046408	50082575	92	68177											
EPS15L1	58513	broad.mit.edu	37	chr19	16514739	16514739	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgcgttttcagtgatgaGatctgaaatgagatgttaaa	13	15	10	3	1	2	4	1	4	1	2	2	6	2	4	0	0	1	2	0	0	3	4			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:16514739G>C	ENST00000602009.1	-	9	1864	c.969C>G	c.(967-969)atC>atG	p.I323M	EPS15L1_ENST00000535753.2_Missense_Mutation_p.I477M|EPS15L1_ENST00000455140.2_Missense_Mutation_p.I477M|EPS15L1_ENST00000597937.1_Missense_Mutation_p.I477M|EPS15L1_ENST00000594975.1_Missense_Mutation_p.I477M|EPS15L1_ENST00000248070.6_Missense_Mutation_p.I477M			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	477	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCAGTGATGAGATCTGAAATG	0.458													13	21					0	0	0	0	C	16514739	G	C	16514739	3	2	358	1	0	0	0	0	1	0	0	0	5231	932	33	2	1199	2	EPS15L1	19	16514739	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	7468331	16514739	42614244	93	68178											
ZNF737	100129842	broad.mit.edu	37	chr19	20728437	20728437	+	Frame_Shift_Del	DEL	T	T	-																															ccccagtatgaattttcttaTgtgtagtaagggttgaagac																										TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:20728437delT	ENST00000427401.4	-	4	666	c.572delA	c.(571-573)ctfs	p.H191fs		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	191					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AATTTTCTTATGTGTAGTAAG	0.358													12	29	---	---	---	---					-	20728437	T	-	20728437	7	5	358	1	0	1	0	1	0	0	0	0	18220	1464	51	0	1042	0	ZNF737	19	20728437	Frame_Shift_Del	DEL	T	TCGA-CX-7082-01A-11D-2012-08	4213698	20728437	38400546	94	68179											
UQCRFS1	7386	broad.mit.edu	37	chr19	29698472	29698472	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttaaccaacaatcaccaTatcgtcactggtgaactcat	13	11	4	13	1	4	1	3	1	1	0	5	1	4	1	2	1	3	0	2	1	5	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:29698472T>C	ENST00000304863.4	-	2	1230	c.808A>G	c.(808-810)Atg>Gtg	p.M270V		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	270	Rieske.				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			ACAATCACCATATCGTCACTG	0.473													14	26					0	0	0	0	C	29698472	T	C	29698472	3	2	358	1	0	0	0	0	1	0	0	0	17117	1406	49	5	20	5	UQCRFS1	19	29698472	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08	8970035	29698472	29430511	95	68180											
ZNF507	22847	broad.mit.edu	37	chr19	32844889	32844889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatcagcacagaaaatcAtcagcagcagccccaataaa	18	6	5	12	0	3	1	3	0	0	1	3	1	3	1	2	0	5	3	2	0	6	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:32844889A>G	ENST00000311921.3	+	2	1345	c.1153A>G	c.(1153-1155)Atc>Gtc	p.I385V	ZNF507_ENST00000544431.1_Missense_Mutation_p.I385V|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.I385V	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ACAGAAAATCATCAGCAGCAG	0.458													29	44					0	0	0	0	G	32844889	A	G	32844889	3	3	358	1	0	0	0	0	1	0	0	0	18048	217	8	5	1155	5	ZNF507	19	32844889	Missense_Mutation	SNP	A	TCGA-CX-7082-01A-11D-2012-08	3146417	32844889	26284094	96	68181											
ZNF345	25850	broad.mit.edu	37	chr19	37368870	37368870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaatgtgggaaggcctttGgtagtggctcaaaacttatc	11	11	13	6	0	1	0	1	0	0	0	2	2	1	2	1	5	1	2	1	5	6	3			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:37368870G>A	ENST00000529555.1	+	2	1926	c.1138G>A	c.(1138-1140)Ggt>Agt	p.G380S	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.G380S|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.G380S			Q14585	ZN345_HUMAN	zinc finger protein 345	380					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAGGCCTTTGGTAGTGGCTC	0.418													14	50					0	0	0	0	A	37368870	G	A	37368870	3	1	358	1	0	0	0	0	1	0	0	0	17954	1348	47	4	1140	4	ZNF345	19	37368870	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	4523981	37368870	21760113	97	68182											
ZNF345	25850	broad.mit.edu	37	chr19	37368948	37368948	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtaaagaatgtggaaagTcctttagtagtggttcagct	13	13	11	4	0	1	1	1	0	0	1	2	2	2	2	1	2	1	4	1	2	7	5			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:37368948T>G	ENST00000529555.1	+	2	2004	c.1216T>G	c.(1216-1218)Tcc>Gcc	p.S406A	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.S406A|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.S406A			Q14585	ZN345_HUMAN	zinc finger protein 345	406					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGTGGAAAGTCCTTTAGTAG	0.433													8	42					0	0	0	0	G	37368948	T	G	37368948	3	3	358	1	0	0	0	0	1	0	0	0	17954	1667	58	5	1218	5	ZNF345	19	37368948	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08	78	37368948	21760035	98	68183											
ZNF225	7768	broad.mit.edu	37	chr19	44636171	44636171	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagagctttggctgggcCtcgtgtcttttgaatcatca	7	13	13	8	1	3	2	2	1	1	1	4	3	3	3	1	3	1	2	1	3	2	3			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:44636171C>T	ENST00000262894.6	+	5	1684	c.1404C>T	c.(1402-1404)gcC>gcT	p.A468A	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Silent_p.A468A	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TTGGCTGGGCCTCGTGTCTTT	0.418													27	34					0	0	0	0	T	44636171	C	T	44636171	2	4	358	1	0	0	0	0	0	0	0	1	17874	668	24	4		4	ZNF225	19	44636171	Silent	SNP	C	TCGA-CX-7082-01A-11D-2012-08	7267223	44636171	14492812	99	68184											
ZNF233	353355	broad.mit.edu	37	chr19	44777755	44777755	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacataggagagaaatgctaTaggaatggtgacagtggtga	15	8	14	4	0	0	3	0	2	0	1	0	6	0	5	0	4	1	1	0	4	5	3			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:44777755T>C	ENST00000391958.2	+	5	1069	c.942T>C	c.(940-942)taT>taC	p.Y314Y	ZNF233_ENST00000334152.1_Silent_p.Y296Y|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AGAAATGCTATAGGAATGGTG	0.488													22	29					0	0	0	0	C	44777755	T	C	44777755	2	2	358	1	0	0	0	0	0	0	0	1	17881	1413	49	5		5	ZNF233	19	44777755	Silent	SNP	T	TCGA-CX-7082-01A-11D-2012-08	141584	44777755	14351228	100	68185											
NAPB	63908	broad.mit.edu	37	chr20	23401954	23401954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgctcacccaaacagccctCggaggaaggagtgggaggcc	10	3	15	13	2	1	0	1	0	0	0	2	4	1	4	3	5	2	1	3	5	2	0			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr20:23401954C>T	ENST00000377026.4	-	1	171	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	NAPB_ENST00000432543.2_Missense_Mutation_p.R29Q|NAPB_ENST00000398425.3_5'UTR|NAPB_ENST00000472855.1_5'UTR	NM_022080.2	NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	29					intracellular protein transport|vesicle-mediated transport	membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					AAACAGCCCTCGGAGGAAGGA	0.697													4	7					0	0	0	0	T	23401954	C	T	23401954	3	4	358	1	0	0	0	0	1	0	0	0	10232	884	31	1	854	1	NAPB	20	23401954	Missense_Mutation	SNP	C	TCGA-CX-7082-01A-11D-2012-08		23401954	39623566	101	68186											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31692054	31692054	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaactggagaagaaagaAgcaggaagaaaactgcttcc	18	4	12	7	0	0	4	0	0	0	4	1	7	1	6	1	3	4	2	1	3	7	1			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr21:31692054A>G	ENST00000360542.3	-	1	553	c.300T>C	c.(298-300)gcT>gcC	p.A100A		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	100						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AGAAGAAAGAAGCAGGAAGAA	0.542													25	74					0	0	0	0	G	31692054	A	G	31692054	2	3	358	1	0	0	0	0	0	0	0	1	8596	59	3	5		5	KRTAP26-1	21	31692054	Silent	SNP	A	TCGA-CX-7082-01A-11D-2012-08		31692054	16437841	102	68187											
MORC2	22880	broad.mit.edu	37	chr22	31330915	31330915	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggtcgggatgcagtcttGacgagagtgttggcaggctt	7	10	17	7	2	1	2	0	1	1	1	2	4	1	3	0	4	1	5	0	4	0	3			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr22:31330915G>C	ENST00000215862.4	-	20	3223	c.1860C>G	c.(1858-1860)gtC>gtG	p.V620V	MORC2_ENST00000397641.2_Silent_p.V682V	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	682							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						ATGCAGTCTTGACGAGAGTGT	0.602													26	56					0	0	0	0	C	31330915	G	C	31330915	2	2	358	1	0	0	0	0	0	0	0	1	9772	1277	45	2		2	MORC2	22	31330915	Silent	SNP	G	TCGA-CX-7082-01A-11D-2012-08		31330915	19973651	103	68188											
MEI1	150365	broad.mit.edu	37	chr22	42191530	42191531	+	Frame_Shift_Ins	INS	-	-	T																															accacactccaggccctgcaINStggcttcttccagcaggtgg																										TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr22:42191530_42191531insT	ENST00000401548.3	+	29	3690_3691	c.3650_3651insT	c.(3649-3651)cggfs	p.R1217fs	MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Intron|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.R550fs	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1217							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGCCCTGCATGGCTTCTTCC	0.574													23	36	---	---	---	---					T	42191531	-	T	42191530	7	5	358	1	0	1	1	0	0	0	0	0	9534	217	8	0	3764	0	MEI1	22	42191530	Frame_Shift_Ins	INS	-	TCGA-CX-7082-01A-11D-2012-08	10860615	42191530	9113036	104	68189											
PLXNB2	23654	broad.mit.edu	37	chr22	50716358	50716358	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctcgtccaggaagtcgaAgaagtacttgactgcaggtg	10	9	13	9	2	0	2	0	1	0	1	3	4	1	3	1	2	3	3	1	2	4	2			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr22:50716358A>G	ENST00000449103.1	-	32	5112	c.4972T>C	c.(4972-4974)Ttc>Ctc	p.F1658L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F1658L			O15031	PLXB2_HUMAN	plexin B2	1658					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGAAGTCGAAGAAGTACTTG	0.602													29	45					0	0	0	0	G	50716358	A	G	50716358	3	3	358	1	0	0	0	0	1	0	0	0	12196	72	3	5	568	5	PLXNB2	22	50716358	Missense_Mutation	SNP	A	TCGA-CX-7082-01A-11D-2012-08	8524828	50716358	588208	105	68190											
SHANK3	85358	broad.mit.edu	37	chr22	51117039	51117039	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagaagttcatggactaCgtccagctgcatagcacgga	12	8	11	10	2	1	2	1	1	0	1	2	4	2	4	1	2	4	4	1	2	4	3			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr22:51117039C>T	ENST00000414786.2	+	4	593	c.366C>T	c.(364-366)taC>taT	p.Y122Y	SHANK3_ENST00000445220.2_Silent_p.Y122Y|SHANK3_ENST00000262795.3_Silent_p.Y122Y			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	122										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TCATGGACTACGTCCAGCTGC	0.602													8	17					0	0	0	0	T	51117039	C	T	51117039	2	4	358	1	0	0	0	0	0	0	0	1	14354	547	19	1		1	SHANK3	22	51117039	Silent	SNP	C	TCGA-CX-7082-01A-11D-2012-08	400681	51117039	187527	106	68191											
ABCB7	22	broad.mit.edu	37	chrX	74288843	74288843	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctgtttttaaataccTgaggtaccactcccactgcc	8	16	5	12	0	1	1	0	1	1	0	2	1	2	1	4	1	3	2	4	1	4	7			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chrX:74288843T>C	ENST00000253577.3	-	12	1685	c.1662_splice	c.e12+1	p.Q554_splice	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000373394.3_Splice_Site_p.Q553_splice|ABCB7_ENST00000339447.4_Splice_Site_p.Q513_splice	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	553	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TTTAAATACCTGAGGTACCAC	0.403													3	73					0	0	0	0	C	74288843	T	C	74288843	5	2	358	1	0	0	0	0	0	0	1	0	46	1594	55	5	620	5	ABCB7	23	74288843	Splice_Site	SNP	T	TCGA-CX-7082-01A-11D-2012-08		74288843	80981717	107	68192											
RBM41	55285	broad.mit.edu	37	chrX	106358744	106358744	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttcttcaatatcttgaaGacggttctgtattgcttcag	8	17	7	9	1	5	2	2	1	3	1	5	2	5	2	1	1	1	3	1	1	4	8			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chrX:106358744G>C	ENST00000372487.1	-	4	387	c.361C>G	c.(361-363)Ctt>Gtt	p.L121V	RBM41_ENST00000203616.8_Missense_Mutation_p.L121V|RBM41_ENST00000471079.1_5'UTR|RBM41_ENST00000372479.3_Missense_Mutation_p.L121V	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	121							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						ATATCTTGAAGACGGTTCTGT	0.463													32	13					0	0	0	0	C	106358744	G	C	106358744	3	2	358	1	0	0	0	0	1	0	0	0	13217	942	33	2	905	2	RBM41	23	106358744	Missense_Mutation	SNP	G	TCGA-CX-7082-01A-11D-2012-08	32069901	106358744	48911816	108	68193											
TMLHE	55217	broad.mit.edu	37	chrX	154736595	154736595	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttattccatgggtagataTttaagactggcccaatccca	11	13	7	10	0	0	2	0	0	0	2	2	2	2	2	3	2	0	1	3	2	5	7			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chrX:154736595T>C	ENST00000334398.3	-	6	1104	c.959A>G	c.(958-960)aAt>aGt	p.N320S	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.N320S	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	320					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGTAGATATTTAAGACTGG	0.373													70	14					0	0	0	0	C	154736595	T	C	154736595	3	2	358	1	0	0	0	0	1	0	0	0	16326	1493	52	5	458	5	TMLHE	23	154736595	Missense_Mutation	SNP	T	TCGA-CX-7082-01A-11D-2012-08	48377851	154736595	533965	109	68194											
NBPF1	55672	broad.mit.edu	37	chr1	16907249	16907249	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaggctacctgggagaaTgtttacagcatcctgacatt	12	11	10	8	0	0	3	0	1	0	2	1	4	1	3	2	2	3	3	2	2	4	5			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:16907249T>C	ENST00000430580.2	-	16	2469	c.1582A>G	c.(1582-1584)Att>Gtt	p.I528V		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	528	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCTGGGAGAATGTTTACAGCA	0.423													20	833					0	0	0	0	C	16907249	T	C	16907249	3	2	359	1	0	0	0	0	1	0	0	0	10262	1464	51	5	1898	5	NBPF1	1	16907249	Missense_Mutation	SNP	T	TCGA-CX-7085-01A-21D-2012-08		16907249	232343372	1	68195											
IQCC	55721	broad.mit.edu	37	chr1	32673134	32673134	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcaagtctggaccaccGtcgtctataccatcaaacag	13	8	7	13	2	3	0	1	0	2	0	4	1	3	1	3	1	4	1	3	1	5	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:32673134G>A	ENST00000537469.1	+	5	1139	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	IQCC_ENST00000291358.6_Silent_p.P284P	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	284										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGGACCACCGTCGTCTATAC	0.537													10	57					0	0	0	0	A	32673134	G	A	32673134	2	1	359	1	0	0	0	0	0	0	0	1	7857	1132	40	1		1	IQCC	1	32673134	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08	15765885	32673134	216577487	2	68196											
OSCP1	127700	broad.mit.edu	37	chr1	36909632	36909632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtccacctctgtccattCatctacatgaagcatacaaa	12	12	4	13	0	4	1	1	1	3	0	6	1	6	1	3	0	3	1	3	0	4	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:36909632C>T	ENST00000356637.5	-	2	178	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	OSCP1_ENST00000235532.5_Intron|OSCP1_ENST00000354267.3_Intron|OSCP1_ENST00000315643.9_Missense_Mutation_p.E39K			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	39					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TCTGTCCATTCATCTACATGA	0.418													10	129					0	0	0	0	T	36909632	C	T	36909632	3	4	359	1	0	0	0	0	1	0	0	0	11357	841	29	2		2	OSCP1	1	36909632	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	4236498	36909632	212340989	3	68197											
GLIS1	148979	broad.mit.edu	37	chr1	54060498	54060498	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggcgaggcttcggcccggGaggtccaggtctgggtgcag	4	7	20	10	3	1	0	0	0	1	0	3	2	2	1	2	7	1	2	2	7	0	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:54060498G>A	ENST00000312233.2	-	3	644	c.78C>T	c.(76-78)ctC>ctT	p.L26L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	26					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TTCGGCCCGGGAGGTCCAGGT	0.706													3	11					0	0	0	0	A	54060498	G	A	54060498	2	1	359	1	0	0	0	0	0	0	0	1	6496	1161	41	2		2	GLIS1	1	54060498	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08	17150866	54060498	195190123	4	68198											
LRIG2	9860	broad.mit.edu	37	chr1	113657399	113657399	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagttggcattgtcatcAttgttgtggtctgctgtgtt	5	17	11	8	0	3	0	2	0	1	0	3	0	3	0	1	2	1	5	1	2	0	5			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:113657399A>G	ENST00000361127.4	+	15	2629	c.2431A>G	c.(2431-2433)Att>Gtt	p.I811V	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	811						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CATTGTCATCATTGTTGTGGT	0.423													14	95					0	0	0	0	G	113657399	A	G	113657399	3	3	359	1	0	0	0	0	1	0	0	0	9009	217	8	5	2489	5	LRIG2	1	113657399	Missense_Mutation	SNP	A	TCGA-CX-7085-01A-21D-2012-08	59596901	113657399	135593222	5	68199											
TTF2	8458	broad.mit.edu	37	chr1	117644143	117644143	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagagtcctttttggcatCtaacctcctgtggataaggg	8	13	10	10	0	2	1	1	0	1	1	4	2	4	2	3	3	1	1	3	3	2	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:117644143C>T	ENST00000369466.3	+	23	3530	c.3486C>T	c.(3484-3486)atC>atT	p.I1162I	TTF2_ENST00000480701.1_3'UTR	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1162					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTTTTGGCATCTAACCTCCTG	0.443													22	201					0	0	0	0	T	117644143	C	T	117644143	2	4	359	1	0	0	0	0	0	0	0	1	16815	903	32	2		2	TTF2	1	117644143	Silent	SNP	C	TCGA-CX-7085-01A-21D-2012-08	3986744	117644143	131606478	6	68200											
HIST2H2BF	440689	broad.mit.edu	37	chr1	149783657	149783657	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggcgggacgcctctcccgcGatgcgctcgaagatgtcgtt	6	8	14	13	7	1	1	0	0	1	1	4	4	1	2	2	2	1	2	2	2	1	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:149783657G>C	ENST00000427880.2	-	1	268	c.222C>G	c.(220-222)atC>atG	p.I74M	HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.I74M|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.I74M|HIST2H2BF_ENST00000469483.1_5'UTR			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	74					nucleosome assembly	nucleosome|nucleus	DNA binding	p.I74I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CCTCTCCCGCGATGCGCTCGA	0.642													6	124					0	0	0	0	C	149783657	G	C	149783657	3	2	359	1	0	0	0	0	1	0	0	0	7230	1048	37	3	579	3	HIST2H2BF	1	149783657	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	32139514	149783657	99466964	7	68201											
ANXA9	8416	broad.mit.edu	37	chr1	150956843	150956843	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccacagcccagtttgaCgcccaggaattgaggacagc	11	5	11	14	1	0	2	0	2	0	0	0	4	0	4	3	2	3	1	3	2	1	2	rs150030788		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:150956843C>T	ENST00000368947.4	+	6	830	c.354C>T	c.(352-354)gaC>gaT	p.D118D	ANXA9_ENST00000474997.1_3'UTR	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	118					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	p.D118D(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCAGTTTGACGCCCAGGAAT	0.552													8	115					0	0	0	0	T	150956843	C	T	150956843	2	4	359	1	0	0	0	0	0	0	0	1	726	535	19	1		1	ANXA9	1	150956843	Silent	SNP	C	TCGA-CX-7085-01A-21D-2012-08	1173186	150956843	98293778	8	68202											
SH2D2A	9047	broad.mit.edu	37	chr1	156779022	156779022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggacaggcctggaccaGctcttccgtaggacagggtg	7	7	15	12	1	1	0	0	0	1	0	2	3	2	3	4	5	1	2	4	5	1	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:156779022G>A	ENST00000392306.2	-	7	1144	c.1005C>T	c.(1003-1005)agC>agT	p.S335S	SH2D2A_ENST00000368198.3_Silent_p.S307S|SH2D2A_ENST00000368199.3_Silent_p.S325S	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	325	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTGGACCAGCTCTTCCGTA	0.612													17	226					0	0	0	0	A	156779022	G	A	156779022	2	1	359	1	0	0	0	0	0	0	0	1	14319	962	34	4		4	SH2D2A	1	156779022	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08	5822179	156779022	92471599	9	68203											
OR2T6	254879	broad.mit.edu	37	chr1	248551279	248551279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcctatgaccgctacGtggccatctgcaacccactg	8	9	9	15	2	2	1	1	1	1	0	2	1	2	1	4	2	3	2	4	2	3	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:248551279G>A	ENST00000355728.2	+	1	370	c.370G>A	c.(370-372)Gtg>Atg	p.V124M		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGACCGCTACGTGGCCATCTG	0.567													10	68					0	0	0	0	A	248551279	G	A	248551279	3	1	359	1	0	0	0	0	1	0	0	0	11100	1145	40	1	372	1	OR2T6	1	248551279	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	91772257	248551279	699342	10	68204											
SOS1	6654	broad.mit.edu	37	chr2	39234174	39234174	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacatgtagaaacctacctCaaatgtgtggtctagtctgt	12	12	8	9	0	3	1	1	0	2	1	3	1	3	1	2	1	2	1	2	1	5	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:39234174C>G	ENST00000426016.1	-	17	2757	c.2671G>C	c.(2671-2673)Gag>Cag	p.E891Q	SOS1_ENST00000402219.2_Missense_Mutation_p.E891Q|SOS1_ENST00000395038.2_Missense_Mutation_p.E891Q			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	891	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAACCTACCTCAAATGTGTGG	0.299									Noonan syndrome				3	87					0	0	0	0	G	39234174	C	G	39234174	3	3	359	1	0	0	0	0	1	0	0	0	15024	835	29	2	1362	2	SOS1	2	39234174	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08		39234174	203965199	11	68205											
SOS1	6654	broad.mit.edu	37	chr2	39234255	39234255	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accattaaagttgttcaactCttgaaagacttgtagaatct	14	14	6	7	0	3	3	1	1	2	2	3	3	3	3	1	0	1	3	1	0	6	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:39234255C>G	ENST00000426016.1	-	17	2676	c.2590G>C	c.(2590-2592)Gag>Cag	p.E864Q	SOS1_ENST00000402219.2_Missense_Mutation_p.E864Q|SOS1_ENST00000395038.2_Missense_Mutation_p.E864Q			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	864	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTGTTCAACTCTTGAAAGACT	0.358									Noonan syndrome				11	126					0	0	0	0	G	39234255	C	G	39234255	3	3	359	1	0	0	0	0	1	0	0	0	15024	922	32	2	1443	2	SOS1	2	39234255	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	81	39234255	203965118	12	68206											
KDM3A	55818	broad.mit.edu	37	chr2	86693679	86693679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagcctaagacaaacactGatcaggaaaacagattggag	17	6	9	9	0	2	3	2	1	0	2	2	5	2	5	1	2	3	0	1	2	4	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:86693679G>A	ENST00000409556.1	+	11	1557	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	KDM3A_ENST00000542128.1_Missense_Mutation_p.D346N|KDM3A_ENST00000409064.1_Missense_Mutation_p.D398N|KDM3A_ENST00000312912.5_Missense_Mutation_p.D398N			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	398					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GACAAACACTGATCAGGAAAA	0.453													15	169					0	0	0	0	A	86693679	G	A	86693679	3	1	359	1	0	0	0	0	1	0	0	0	8179	1290	45	2	1226	2	KDM3A	2	86693679	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	47459424	86693679	156505694	13	68207											
MITD1	129531	broad.mit.edu	37	chr2	99797402	99797402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgctttagcacagtggctgCagctgtgctctgcgggtcct	4	11	13	13	2	1	0	0	0	1	0	2	0	2	0	2	2	5	6	2	2	1	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:99797402C>T	ENST00000289359.2	-	1	119	c.43G>A	c.(43-45)Gca>Aca	p.A15T	MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	15	MIT.				protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						ACAGTGGCTGCAGCTGTGCTC	0.587													5	57					0	0	0	0	T	99797402	C	T	99797402	3	4	359	1	0	0	0	0	1	0	0	0	9664	710	25	4	734	4	MITD1	2	99797402	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	13103723	99797402	143401971	14	68208											
EIF5B	9669	broad.mit.edu	37	chr2	100007051	100007051	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accactatagatgtcatcttGatcaatgggcgtttgaagga	12	12	10	7	1	3	3	2	2	1	1	3	4	3	4	1	2	0	1	1	2	4	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:100007051G>C	ENST00000289371.5	+	17	2833	c.2631G>C	c.(2629-2631)ttG>ttC	p.L877F		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	877					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGTCATCTTGATCAATGGGC	0.438													3	80					0	0	0	0	C	100007051	G	C	100007051	3	2	359	1	0	0	0	0	1	0	0	0	5082	1281	45	2	2697	2	EIF5B	2	100007051	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	209649	100007051	143192322	15	68209											
BAZ2B	29994	broad.mit.edu	37	chr2	160229587	160229587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccatgccttctacaaaaatCcccccacattggggaagaat	13	9	6	13	0	1	1	0	0	1	1	3	2	3	2	5	2	2	0	5	2	5	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:160229587C>T	ENST00000392783.2	-	27	4677	c.4182G>A	c.(4180-4182)ggG>ggA	p.G1394G	BAZ2B_ENST00000355831.2_Silent_p.G1360G|BAZ2B_ENST00000392782.1_Silent_p.G1358G|BAZ2B_ENST00000343439.5_Silent_p.G1294G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTACAAAAATCCCCCCACATT	0.403													4	49					0	0	0	0	T	160229587	C	T	160229587	2	4	359	1	0	0	0	0	0	0	0	1	1336	842	30	2		2	BAZ2B	2	160229587	Silent	SNP	C	TCGA-CX-7085-01A-21D-2012-08	60222536	160229587	82969786	16	68210											
LRP2	4036	broad.mit.edu	37	chr2	170050332	170050332	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcattatcaccgtcacagatCcattcgcttgggatgcacct	9	12	7	13	2	3	1	3	0	0	1	5	2	4	2	3	1	1	2	3	1	1	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:170050332C>G	ENST00000263816.3	-	47	9054	c.8769G>C	c.(8767-8769)tgG>tgC	p.W2923C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2923	LDL-receptor class A 21.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CGTCACAGATCCATTCGCTTG	0.463													5	98					0	0	0	0	G	170050332	C	G	170050332	3	3	359	1	0	0	0	0	1	0	0	0	9020	856	30	2	5330	2	LRP2	2	170050332	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	9820745	170050332	73149041	17	68211											
NAB1	4664	broad.mit.edu	37	chr2	191524404	191524404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaaggccaccatgccactGagagcgagcacagcctctcc	10	4	11	16	1	1	1	0	1	1	1	2	3	1	1	5	2	4	2	5	2	1	0			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:191524404G>A	ENST00000337386.5	+	4	963	c.502G>A	c.(502-504)Gag>Aag	p.E168K	NAB1_ENST00000409581.1_Missense_Mutation_p.E168K|NAB1_ENST00000357215.5_Missense_Mutation_p.E168K|NAB1_ENST00000409641.1_Missense_Mutation_p.E168K	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	168					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CCATGCCACTGAGAGCGAGCA	0.627													7	40					0	0	0	0	A	191524404	G	A	191524404	3	1	359	1	0	0	0	0	1	0	0	0	10201	1291	45	2	504	2	NAB1	2	191524404	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	21474072	191524404	51674969	18	68212											
CASP8	841	broad.mit.edu	37	chr2	202151270	202151270	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatggggaaacagatgcctCagcctactttcacactaaga	14	8	8	11	0	2	2	2	0	0	2	2	3	2	3	2	2	4	0	2	2	3	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:202151270C>T	ENST00000358485.4	+	9	1766	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q465*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	465					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.Q482*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACAGATGCCTCAGCCTACTTT	0.373										HNSCC(4;0.00038)			7	40					0	0	0	0	T	202151270	C	T	202151270	4	4	359	1	0	0	0	0	0	1	0	0	2702	827	29	2	1704	2	CASP8	2	202151270	Nonsense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	10626866	202151270	41048103	19	68213											
WDR12	55759	broad.mit.edu	37	chr2	203772641	203772641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactaaggtcggcaatttcaGaggcagcagggattgagaag	13	8	14	6	1	1	2	1	1	0	2	2	4	1	3	0	4	2	3	0	4	4	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:203772641G>C	ENST00000261015.3	-	2	832	c.83C>G	c.(82-84)tCt>tGt	p.S28C	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	28					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						GGCAATTTCAGAGGCAGCAGG	0.373													3	38					0	0	0	0	C	203772641	G	C	203772641	3	2	359	1	0	0	0	0	1	0	0	0	17370	942	33	2	1236	2	WDR12	2	203772641	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	1621371	203772641	39426732	20	68214											
SMARCAL1	50485	broad.mit.edu	37	chr2	217279568	217279568	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccattgctggcaacccattCcaggccaagcaaggcccatc	10	7	8	16	0	0	0	0	0	0	0	3	0	2	0	5	3	3	3	5	3	3	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:217279568C>T	ENST00000357276.4	+	3	471	c.141C>T	c.(139-141)ttC>ttT	p.F47F	SMARCAL1_ENST00000358207.5_Silent_p.F47F	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	47					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GCAACCCATTCCAGGCCAAGC	0.507									Schimke Immuno-Osseous Dysplasia				14	181					0	0	0	0	T	217279568	C	T	217279568	2	4	359	1	0	0	0	0	0	0	0	1	14861	854	30	2		2	SMARCAL1	2	217279568	Silent	SNP	C	TCGA-CX-7085-01A-21D-2012-08	13506927	217279568	25919805	21	68215											
COL6A3	1293	broad.mit.edu	37	chr2	238283539	238283539	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tactgcaccacggccacgcgGacccggtcctggcccacatc	7	5	10	19	4	0	0	0	0	0	0	2	1	1	1	5	4	2	1	5	4	1	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:238283539G>A	ENST00000295550.4	-	8	3647	c.3195C>T	c.(3193-3195)gtC>gtT	p.V1065V	COL6A3_ENST00000472056.1_Silent_p.V458V|COL6A3_ENST00000392004.3_Silent_p.V859V|COL6A3_ENST00000353578.4_Silent_p.V859V|COL6A3_ENST00000346358.4_Silent_p.V865V|COL6A3_ENST00000392003.2_Silent_p.V658V|COL6A3_ENST00000409809.1_Silent_p.V859V|COL6A3_ENST00000347401.3_Silent_p.V864V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1065	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGCCACGCGGACCCGGTCCT	0.592													9	79					0	0	0	0	A	238283539	G	A	238283539	2	1	359	1	0	0	0	0	0	0	0	1	3731	1161	41	2		2	COL6A3	2	238283539	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08	21003971	238283539	4915834	22	68216											
TREX1	11277	broad.mit.edu	37	chr3	48508971	48508971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcagtagccacactgtatgGactatccctggccacacctg	9	8	10	14	0	0	0	0	0	0	0	1	1	1	1	4	3	1	3	4	3	3	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:48508971G>A	ENST00000296443.9	+	3	1804	c.917G>A	c.(916-918)gGa>gAa	p.G306E	TREX1_ENST00000422277.2_Missense_Mutation_p.G361E|TREX1_ENST00000433541.1_Missense_Mutation_p.G167E|TREX1_ENST00000436480.2_Missense_Mutation_p.G306E|TREX1_ENST00000444177.1_Missense_Mutation_p.G296E|TREX1_ENST00000456089.1_Missense_Mutation_p.G167E			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	361					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACACTGTATGGACTATCCCTG	0.592													6	59					0	0	0	0	A	48508971	G	A	48508971	3	1	359	1	0	0	0	0	1	0	0	0	16571	1174	41	2	1084	2	TREX1	3	48508971	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08		48508971	149513459	23	68217											
DALRD3	55152	broad.mit.edu	37	chr3	49053656	49053656	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtggggtacagaccttgttCcatactacacttgtaactct	10	13	8	10	0	1	1	0	0	1	1	2	1	2	1	2	2	4	3	2	2	4	7			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:49053656C>G	ENST00000440857.1	-	10	1465	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q	DALRD3_ENST00000313778.5_Missense_Mutation_p.E255Q|DALRD3_ENST00000341949.4_Missense_Mutation_p.E422Q|DALRD3_ENST00000395462.4_Missense_Mutation_p.E255Q|DALRD3_ENST00000441576.2_Missense_Mutation_p.E422Q			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	422					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	p.E255*(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGACCTTGTTCCATACTACAC	0.502													6	67					0	0	0	0	G	49053656	C	G	49053656	3	3	359	1	0	0	0	0	1	0	0	0	4262	864	30	2	383	2	DALRD3	3	49053656	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	544685	49053656	148968774	24	68218											
RASSF1	11186	broad.mit.edu	37	chr3	50369058	50369058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catccaccaccaagaactttCgcagcagggcctcaatgact	12	7	7	15	1	1	2	1	1	0	1	3	2	2	2	4	1	2	2	4	1	3	1	rs148222115	byFrequency	TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:50369058C>T	ENST00000359365.4	-	4	798	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	RASSF1_ENST00000395126.3_Missense_Mutation_p.R80Q|RASSF1_ENST00000357043.2_Missense_Mutation_p.R235Q|RASSF1_ENST00000327761.3_Missense_Mutation_p.R161Q	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	235	Ras-associating.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAAGAACTTTCGCAGCAGGGC	0.597													11	77					0	0	0	0	T	50369058	C	T	50369058	3	4	359	1	0	0	0	0	1	0	0	0	13166	884	31	1	342	1	RASSF1	3	50369058	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	1315402	50369058	147653372	25	68219											
PRICKLE2	166336	broad.mit.edu	37	chr3	64145632	64145632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttacctgttcacaaatagctCctgtcatggtgactgggaaa	11	12	9	9	0	2	1	2	1	0	0	3	2	3	2	2	2	2	2	2	2	4	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:64145632C>T	ENST00000295902.6	-	4	965	c.380G>A	c.(379-381)gGa>gAa	p.G127E	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G183E	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	127						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACAAATAGCTCCTGTCATGGT	0.483													15	151					0	0	0	0	T	64145632	C	T	64145632	3	4	359	1	0	0	0	0	1	0	0	0	12567	855	30	2	2174	2	PRICKLE2	3	64145632	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	13776574	64145632	133876798	26	68220											
GPR156	165829	broad.mit.edu	37	chr3	119885902	119885902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccagcgtgggtttcaagtCatctttgaagttcacaatag	11	12	9	9	1	4	1	3	1	1	0	4	1	4	1	1	1	1	2	1	1	4	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:119885902C>T	ENST00000464295.1	-	10	2867	c.2422G>A	c.(2422-2424)Gac>Aac	p.D808N	GPR156_ENST00000315843.3_Missense_Mutation_p.D808N|GPR156_ENST00000461057.1_Missense_Mutation_p.D804N			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	808						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGTTTCAAGTCATCTTTGAAG	0.537													9	300					0	0	0	0	T	119885902	C	T	119885902	3	4	359	1	0	0	0	0	1	0	0	0	6710	826	29	2	26	2	GPR156	3	119885902	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	55740270	119885902	78136528	27	68221											
MYLK	4638	broad.mit.edu	37	chr3	123452808	123452808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcttgcggcctgcagggtGatggagctggaagtcttctg	6	11	15	9	1	3	1	0	1	3	0	3	3	3	3	1	4	3	2	1	4	1	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:123452808G>A	ENST00000360772.3	-	11	1413	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	MYLK_ENST00000359169.1_Silent_p.I345I|MYLK_ENST00000360304.3_Silent_p.I345I|MYLK_ENST00000475616.1_Silent_p.I345I|MYLK_ENST00000346322.5_Silent_p.I345I			Q15746	MYLK_HUMAN	myosin light chain kinase	345					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTGCAGGGTGATGGAGCTGG	0.637													7	116					0	0	0	0	A	123452808	G	A	123452808	2	1	359	1	0	0	0	0	0	0	0	1	10126	1280	45	2		2	MYLK	3	123452808	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08	3566906	123452808	74569622	28	68222											
SLC41A3	54946	broad.mit.edu	37	chr3	125775279	125775279	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaccacgacctggcacatGatggtgaagaaagattcagg	13	6	13	9	1	1	4	1	2	0	2	1	5	1	4	2	4	0	2	2	4	2	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:125775279G>C	ENST00000383598.2	-	1	402	c.117C>G	c.(115-117)atC>atG	p.I39M	SLC41A3_ENST00000346785.5_Intron|SLC41A3_ENST00000514023.1_Intron|SLC41A3_ENST00000315891.6_Intron|SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000360370.4_Intron	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	65						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCTGGCACATGATGGTGAAGA	0.552													3	34					0	0	0	0	C	125775279	G	C	125775279	3	2	359	1	0	0	0	0	1	0	0	0	14719	1280	45	2	1470	2	SLC41A3	3	125775279	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	2322471	125775279	72247151	29	68223											
SEC61A1	29927	broad.mit.edu	37	chr3	127786876	127786876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatgagaggccaccgagaGacctccatggtccatgaact	11	7	12	11	1	0	4	0	3	0	2	2	7	2	4	5	2	1	0	5	2	1	0			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:127786876G>C	ENST00000243253.3	+	11	1402	c.1218G>C	c.(1216-1218)gaG>gaC	p.E406D	RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.E412D|SEC61A1_ENST00000424880.2_Missense_Mutation_p.E286D|SEC61A1_ENST00000483956.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	406					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GCCACCGAGAGACCTCCATGG	0.572											OREG0015775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	74					0	0	0	0	C	127786876	G	C	127786876	3	2	359	1	0	0	0	0	1	0	0	0	14087	933	33	2	1260	2	SEC61A1	3	127786876	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	2011597	127786876	70235554	30	68224											
ACAD9	28976	broad.mit.edu	37	chr3	128631364	128631364	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagatgctccagaaaacCtagatgagcagattaagaaa	17	7	8	9	0	0	6	0	1	0	5	2	6	2	6	3	0	3	2	3	0	5	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:128631364C>G	ENST00000308982.7	+	18	1861	c.1780C>G	c.(1780-1782)Cta>Gta	p.L594V	ACAD9_ENST00000511526.1_3'UTR|RP11-723O4.6_ENST00000508239.1_Intron|KIAA1257_ENST00000511438.1_Intron	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	594						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCAGAAAACCTAGATGAGCA	0.502													12	57					0	0	0	0	G	128631364	C	G	128631364	3	3	359	1	0	0	0	0	1	0	0	0	111	680	24	4	1850	4	ACAD9	3	128631364	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	844488	128631364	69391066	31	68225											
HLTF	6596	broad.mit.edu	37	chr3	148781309	148781309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttcactacatctagatgCgtctatttcaaagaaaaatg	14	14	6	7	1	4	2	2	0	2	2	4	2	4	2	0	0	2	1	0	0	6	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:148781309C>T	ENST00000310053.5	-	10	1262	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	HLTF_ENST00000494055.1_Missense_Mutation_p.A357T|HLTF_ENST00000392912.2_Missense_Mutation_p.A357T|HLTF_ENST00000465259.1_Missense_Mutation_p.A357T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	357					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CATCTAGATGCGTCTATTTCA	0.343													5	58					0	0	0	0	T	148781309	C	T	148781309	3	4	359	1	0	0	0	0	1	0	0	0	7265	768	27	1	2024	1	HLTF	3	148781309	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	20149945	148781309	49241121	32	68226											
SMC4	10051	broad.mit.edu	37	chr3	160149430	160149430	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccctaaattgaacttttaGatttcaaaaatatcactgca	15	14	3	9	0	2	2	2	1	0	1	3	2	3	2	2	0	2	1	2	0	7	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:160149430G>A	ENST00000357388.3	+	21	3565		c.e21-1		SMC4_ENST00000462787.1_Splice_Site|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Splice_Site|SMC4_ENST00000344722.5_Splice_Site|SMC4_ENST00000469762.1_Splice_Site	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4						cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGAACTTTTAGATTTCAAAAA	0.313													4	66					0	0	0	0	A	160149430	G	A	160149430	5	1	359	1	0	0	0	0	0	0	1	0	14873	956	33	2	3192	2	SMC4	3	160149430	Splice_Site	SNP	G	TCGA-CX-7085-01A-21D-2012-08	11368121	160149430	37873000	33	68227											
TTC14	151613	broad.mit.edu	37	chr3	180321060	180321060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcggttttttcatggtgttGatctgtttaggaagtggtat	6	20	12	3	1	2	1	1	1	1	0	3	2	2	2	0	4	0	4	0	4	3	8			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:180321060G>A	ENST00000412756.2	+	3	504	c.435G>A	c.(433-435)ttG>ttA	p.L145L	TTC14_ENST00000382584.4_Silent_p.L145L|TTC14_ENST00000296015.4_Silent_p.L145L	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	145	S1 motif.						RNA binding	p.L145F(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCATGGTGTTGATCTGTTTAG	0.373													5	88					0	0	0	0	A	180321060	G	A	180321060	2	1	359	1	0	0	0	0	0	0	0	1	16777	1281	45	2		2	TTC14	3	180321060	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08	20171630	180321060	17701370	34	68228											
FGFR3	2261	broad.mit.edu	37	chr4	1801486	1801486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgcagacgctccatcctCgggagatgacgaagacgggg	9	6	14	12	4	0	4	0	1	0	3	3	6	2	4	3	3	1	2	3	3	1	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:1801486C>T	ENST00000340107.4	+	4	648	c.392C>T	c.(391-393)tCg>tTg	p.S131L	FGFR3_ENST00000412135.2_Missense_Mutation_p.S131L|FGFR3_ENST00000481110.2_Missense_Mutation_p.S131L|FGFR3_ENST00000440486.2_Missense_Mutation_p.S131L|FGFR3_ENST00000352904.1_Missense_Mutation_p.S131L|FGFR3_ENST00000260795.2_Missense_Mutation_p.S131L	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	131					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GCTCCATCCTCGGGAGATGAC	0.677		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				5	40					0	0	0	0	T	1801486	C	T	1801486	3	4	359	1	0	0	0	0	1	0	0	0	5912	893	31	1	402	1	FGFR3	4	1801486	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08		1801486	189352790	35	68229											
CCKAR	886	broad.mit.edu	37	chr4	26490898	26490898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacggcgctcccgaagatGaaatccttgagcagattggg	12	7	12	10	3	0	4	0	2	0	2	2	5	2	4	2	2	2	2	2	2	3	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:26490898G>T	ENST00000295589.3	-	2	515	c.321C>A	c.(319-321)ttC>ttA	p.F107L		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	107					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TCCCGAAGATGAAATCCTTGA	0.562													7	115					8.12818e-05	0.00039824	1	0	T	26490898	G	T	26490898	3	4	359	1	0	0	0	0	1	0	0	0	2907	1281	45	2	981	2	CCKAR	4	26490898	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	24689412	26490898	164663378	36	68230											
PDGFRA	5156	broad.mit.edu	37	chr4	55144560	55144560	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcatcacagagtattgcttCtatggagatttggtcaacta	12	14	8	7	0	4	2	3	0	1	2	4	3	4	2	0	2	2	2	0	2	4	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:55144560C>G	ENST00000257290.5	+	15	2365	c.2034C>G	c.(2032-2034)ttC>ttG	p.F678L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.F438L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	678	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.F678L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGTATTGCTTCTATGGAGATT	0.433			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			4	88					0	0	0	0	G	55144560	C	G	55144560	3	3	359	1	0	0	0	0	1	0	0	0	11732	912	32	2	2088	2	PDGFRA	4	55144560	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	28653662	55144560	136009716	37	68231											
UGT2B11	10720	broad.mit.edu	37	chr4	70074139	70074139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcatgttacttatcactGaccccagagaaaacaccaca	14	9	5	13	0	2	2	2	1	0	1	2	3	2	2	3	0	2	1	3	0	4	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:70074139G>A	ENST00000446444.1	-	3	940	c.932C>T	c.(931-933)tCa>tTa	p.S311L	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	311					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ACTTATCACTGACCCCAGAGA	0.418													19	189					0	0	0	0	A	70074139	G	A	70074139	3	1	359	1	0	0	0	0	1	0	0	0	17053	1294	45	2	673	2	UGT2B11	4	70074139	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	14929579	70074139	121080137	38	68232											
USO1	8615	broad.mit.edu	37	chr4	76708301	76708301	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagtgtgggttattgcaGcagctttgtactatcctaat	8	16	9	8	0	0	0	0	0	0	0	2	0	2	0	2	1	4	5	2	1	4	7			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:76708301G>A	ENST00000538159.1	+	10	948	c.948G>A	c.(946-948)caG>caA	p.Q316Q	USO1_ENST00000514213.2_Silent_p.Q299Q			O60763	USO1_HUMAN	USO1 vesicle transport factor	314	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGTTATTGCAGCAGCTTTGTA	0.468													7	104					0	0	0	0	A	76708301	G	A	76708301	2	1	359	1	0	0	0	0	0	0	0	1	17135	962	34	4		4	USO1	4	76708301	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08	6634162	76708301	114445975	39	68233											
NAP1L5	266812	broad.mit.edu	37	chr4	89618637	89618637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctatcttatcgcatCgcttctgcagctttttgagg	5	17	9	10	2	3	1	0	1	3	0	5	1	3	1	0	2	2	5	0	2	2	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:89618637C>A	ENST00000323061.5	-	1	749	c.269G>T	c.(268-270)cGa>cTa	p.R90L	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	90					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		CTTATCGCATCGCTTCTGCAG	0.458													12	119					6.40141e-05	0.000315221	1	0	A	89618637	C	A	89618637	3	1	359	1	0	0	0	0	1	0	0	0	10230	884	31	3	283	3	NAP1L5	4	89618637	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	12910336	89618637	101535639	40	68234											
FAT4	79633	broad.mit.edu	37	chr4	126239528	126239528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagagaagagcaagccttCtactccctgttggttctggc	9	10	11	11	0	2	2	0	0	2	2	3	4	3	2	2	2	3	3	2	2	3	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:126239528C>G	ENST00000394329.3	+	1	1975	c.1962C>G	c.(1960-1962)ttC>ttG	p.F654L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	654	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCAAGCCTTCTACTCCCTGT	0.517													8	59					0	0	0	0	G	126239528	C	G	126239528	3	3	359	1	0	0	0	0	1	0	0	0	5737	912	32	2	1964	2	FAT4	4	126239528	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	36620891	126239528	64914748	41	68235											
SLC7A11	23657	broad.mit.edu	37	chr4	139153472	139153472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagttcagggatttcacattGaataaaaaatggttccagaa	17	11	8	5	0	2	2	2	1	0	1	3	3	3	3	1	2	0	2	1	2	6	5			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:139153472G>C	ENST00000280612.5	-	3	748	c.469C>G	c.(469-471)Caa>Gaa	p.Q157E		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	157					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ATTTCACATTGAATAAAAAAT	0.368													10	68					0	0	0	0	C	139153472	G	C	139153472	3	2	359	1	0	0	0	0	1	0	0	0	14782	1299	45	2	1076	2	SLC7A11	4	139153472	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	12913944	139153472	52000804	42	68236											
KIAA0922	23240	broad.mit.edu	37	chr4	154544100	154544100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtggacaagttctgctccGattccagctctgactgtggg	6	12	13	10	1	2	1	0	1	2	0	4	3	4	2	2	2	2	3	2	2	1	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:154544100G>A	ENST00000409959.3	+	29	3959	c.3910G>A	c.(3910-3912)Gat>Aat	p.D1304N	KIAA0922_ENST00000440693.1_Missense_Mutation_p.D1220N|KIAA0922_ENST00000409663.3_Missense_Mutation_p.D1303N	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1303	Ser-rich.					integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GTTCTGCTCCGATTCCAGCTC	0.562													14	121					0	0	0	0	A	154544100	G	A	154544100	3	1	359	1	0	0	0	0	1	0	0	0	8252	1058	37	1	4024	1	KIAA0922	4	154544100	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	15390628	154544100	36610176	43	68237											
FAT1	2195	broad.mit.edu	37	chr4	187516868	187516868	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcatcgcacgattcggactgGaaggagctcagagactgcac	11	7	12	11	3	2	1	2	0	0	1	4	6	2	4	0	3	2	3	0	3	1	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:187516868G>C	ENST00000441802.2	-	26	13322	c.13113C>G	c.(13111-13113)ttC>ttG	p.F4371L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4371					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATTCGGACTGGAAGGAGCTCA	0.512										HNSCC(5;0.00058)			9	90					0	0	0	0	C	187516868	G	C	187516868	3	2	359	1	0	0	0	0	1	0	0	0	5734	1165	41	2	661	2	FAT1	4	187516868	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	32972768	187516868	3637408	44	68238			1	108		2	2	14	G		6.970786e-05
FAT1	2195	broad.mit.edu	37	chr4	187516881	187516881	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggactggaaggagctcagaGactgcacttcagacaggctt	11	7	13	10	1	2	2	2	0	0	2	2	6	2	5	0	4	2	3	0	4	1	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:187516881G>C	ENST00000441802.2	-	26	13309	c.13100C>G	c.(13099-13101)tCt>tGt	p.S4367C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4367					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGAGCTCAGAGACTGCACTTC	0.517										HNSCC(5;0.00058)			10	90					0	0	0	0	C	187516881	G	C	187516881	3	2	359	1	0	0	0	0	1	0	0	0	5734	942	33	2	674	2	FAT1	4	187516881	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	13	187516881	3637395	45	68239			1	108		2	2	14	G		6.970786e-05
FAT1	2195	broad.mit.edu	37	chr4	187630459	187630459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttggttcctatgtctgcatCcgtggcgctgactcttgcga	4	14	12	11	3	2	1	0	1	2	0	4	2	4	1	2	2	2	4	2	2	1	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:187630459C>G	ENST00000441802.2	-	2	732	c.523G>C	c.(523-525)Gat>Cat	p.D175H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	175	Cadherin 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGTCTGCATCCGTGGCGCTG	0.433										HNSCC(5;0.00058)			20	162					0	0	0	0	G	187630459	C	G	187630459	3	3	359	1	0	0	0	0	1	0	0	0	5734	855	30	2	13347	2	FAT1	4	187630459	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	113578	187630459	3523817	46	68240											
SLC45A2	51151	broad.mit.edu	37	chr5	33963899	33963899	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catactcgtacattccatctGatgacaatggagggtcctga	11	11	9	10	1	1	3	0	3	1	0	4	4	3	4	2	2	2	1	2	2	3	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:33963899G>C	ENST00000382102.3	-	3	842	c.785C>G	c.(784-786)tCa>tGa	p.S262*	SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000296589.4_Nonsense_Mutation_p.S262*|SLC45A2_ENST00000342059.3_Nonsense_Mutation_p.S203*|SLC45A2_ENST00000509381.1_Intron	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	262					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CATTCCATCTGATGACAATGG	0.443													6	117					0	0	0	0	C	33963899	G	C	33963899	4	2	359	1	0	0	0	0	0	1	0	0	14729	1294	45	2	842	2	SLC45A2	5	33963899	Nonsense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08		33963899	146951361	47	68241											
CMYA5	202333	broad.mit.edu	37	chr5	79026056	79026056	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaggaggaaaacatgcttGagccatccatttctctttct	12	12	8	9	0	2	2	0	1	2	1	4	4	3	4	2	2	3	1	2	2	3	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:79026056G>C	ENST00000446378.2	+	2	1499	c.1468G>C	c.(1468-1470)Gag>Cag	p.E490Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	490	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAACATGCTTGAGCCATCCAT	0.458													15	125					0	0	0	0	C	79026056	G	C	79026056	3	2	359	1	0	0	0	0	1	0	0	0	3620	1291	45	2	1474	2	CMYA5	5	79026056	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	45062157	79026056	101889204	48	68242											
SLCO4C1	353189	broad.mit.edu	37	chr5	101597639	101597639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatgttttggaaagcaaGaaaaaggtattattaaagac	19	11	9	2	0	0	2	0	0	0	2	0	3	0	3	0	2	1	4	0	2	10	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:101597639G>T	ENST00000310954.6	-	5	1284	c.998C>A	c.(997-999)tCt>tAt	p.S333Y		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	333					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.S333C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGGAAAGCAAGAAAAAGGTAT	0.368													4	39					0.00024832	0.00120454	1	0	T	101597639	G	T	101597639	3	4	359	1	0	0	0	0	1	0	0	0	14818	942	33	2	1212	2	SLCO4C1	5	101597639	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	22571583	101597639	79317621	49	68243											
SLCO6A1	133482	broad.mit.edu	37	chr5	101724493	101724493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtaaaatacaagaagtttctCctgacattttaaagattgat	16	14	6	5	0	1	4	0	2	1	2	2	4	1	4	1	0	1	2	1	0	7	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:101724493C>T	ENST00000506729.1	-	12	2087	c.1916G>A	c.(1915-1917)gGa>gAa	p.G639E	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G577E|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G386E|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G639E|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G386E			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	639						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGAAGTTTCTCCTGACATTTT	0.323													5	22					0	0	0	0	T	101724493	C	T	101724493	3	4	359	1	0	0	0	0	1	0	0	0	14820	855	30	2	251	2	SLCO6A1	5	101724493	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	126854	101724493	79190767	50	68244											
CSF2	1437	broad.mit.edu	37	chr5	131411512	131411512	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggactttctgcttgtcatCccctttgactgctgggagcc	6	13	10	12	0	2	1	1	1	1	0	3	3	3	3	3	2	3	2	3	2	1	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:131411512C>T	ENST00000296871.2	+	4	436	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	134					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	TGCTTGTCATCCCCTTTGACT	0.463													5	115					0	0	0	0	T	131411512	C	T	131411512	2	4	359	1	0	0	0	0	0	0	0	1	3965	845	30	2		2	CSF2	5	131411512	Silent	SNP	C	TCGA-CX-7085-01A-21D-2012-08	29687019	131411512	49503748	51	68245											
PCDHA9	9752	broad.mit.edu	37	chr5	140229699	140229699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgagcgcgcgcgacgCgggcgtgccgcctctgggca	4	4	18	15	8	1	1	0	1	1	0	1	2	1	1	3	3	2	1	3	3	0	0			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:140229699C>T	ENST00000378122.3	+	1	2343	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A540V|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGACGCGGGCGTGCCG	0.667													20	154					0	0	0	0	T	140229699	C	T	140229699	3	4	359	1	0	0	0	0	1	0	0	0	11602	768	27	1	1621	1	PCDHA9	5	140229699	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	8818187	140229699	40685561	52	68246											
PCDHA13	56136	broad.mit.edu	37	chr5	140264038	140264038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgctcggcaccgcccaccGagggcgcgtgcgcgccgggc	3	3	18	17	8	0	0	0	0	0	0	1	1	0	0	4	4	2	2	4	4	0	0			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:140264038G>A	ENST00000289272.2	+	1	2185	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E729K|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCCCACCGAGGGCGCGTG	0.647													6	125					0	0	0	0	A	140264038	G	A	140264038	3	1	359	1	0	0	0	0	1	0	0	0	11594	1059	37	1	2187	1	PCDHA13	5	140264038	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	34339	140264038	40651222	53	68247											
PCDHAC1	56135	broad.mit.edu	37	chr5	140306523	140306523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttgtgggtttcctgcGgcgctgcagcgggacagctc	4	12	15	10	3	0	0	0	0	0	0	2	1	1	1	1	3	4	5	1	3	1	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:140306523G>A	ENST00000253807.2	+	1	46	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.G16S|PCDHA8_ENST00000531613.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTTCCTGCGGCGCTGCAGC	0.642													5	47					0	0	0	0	A	140306523	G	A	140306523	3	1	359	1	0	0	0	0	1	0	0	0	11603	1116	39	1	48	1	PCDHAC1	5	140306523	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	42485	140306523	40608737	54	68248											
PCDHGA4	56111	broad.mit.edu	37	chr5	140734878	140734878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctctactcggtgtttgaGgagcaggaagaaggctcagt	10	11	13	7	1	2	2	1	1	1	1	4	4	2	4	0	4	2	3	0	4	3	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:140734878G>T	ENST00000571252.1	+	1	111	c.111G>T	c.(109-111)gaG>gaT	p.E37D	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGTTTGAGGAGCAGGAAG	0.632													10	80					7.48243e-07	3.72213e-06	1	0	T	140734878	G	T	140734878	3	4	359	1	0	0	0	0	1	0	0	0	11627	991	35	4	113	4	PCDHGA4	5	140734878	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	428355	140734878	40180382	55	68249											
NR3C1	2908	broad.mit.edu	37	chr5	142780167	142780178	+	In_Frame_Del	DEL	TGGACAGATCTG	TGGACAGATCTG	-																															cattgagagtgaaactgcttTggacagatctggctgctgcg																										TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:142780167_142780178delTGGACAGATCTG	ENST00000343796.2	-	2	1220_1231	c.227_238delCAGATCTGTCCA	c.(226-240)caa>c	p.PDLSK76del	NR3C1_ENST00000394464.2_In_Frame_Del_p.PDLSK76del|NR3C1_ENST00000504572.1_In_Frame_Del_p.PDLSK76del|NR3C1_ENST00000503201.1_In_Frame_Del_p.PDLSK76del|NR3C1_ENST00000415690.2_In_Frame_Del_p.PDLSK76del|NR3C1_ENST00000231509.3_In_Frame_Del_p.PDLSK76del|NR3C1_ENST00000394466.2_In_Frame_Del_p.PDLSK76del|NR3C1_ENST00000424646.2_In_Frame_Del_p.PDLSK76del|NR3C1_ENST00000416954.2_Intron	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	76	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GAAACTGCTTTGGACAGATCTGGCTGCTGCGC	0.491													13	166	---	---	---	---					-	142780178	TGGACAGATCTG	-	142780167	7	5	359	1	0	1	0	1	0	0	0	0	10701	1821	63	0	2182	0	NR3C1	5	142780167	In_Frame_Del	DEL	TGGACAGATCTG	TCGA-CX-7085-01A-21D-2012-08	2045289	142780167	38135093	56	68250											
HIST1H2BB	3018	broad.mit.edu	37	chr6	26043604	26043604	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcgcacagccgtctgaatCtccctggaggtgatggtcga	8	8	14	11	3	2	2	0	2	2	0	4	4	2	3	2	4	1	1	2	4	1	0			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:26043604C>T	ENST00000357905.2	-	1	281	c.282G>A	c.(280-282)gaG>gaA	p.E94E		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	94					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CCGTCTGAATCTCCCTGGAGG	0.562													5	99					0	0	0	0	T	26043604	C	T	26043604	2	4	359	1	0	0	0	0	0	0	0	1	7191	912	32	2		2	HIST1H2BB	6	26043604	Silent	SNP	C	TCGA-CX-7085-01A-21D-2012-08		26043604	145071463	57	68251											
PPP1R10	5514	broad.mit.edu	37	chr6	30571943	30571943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctccatgttatcatggctCagacgccgcgctgtctcaaa	8	11	8	14	3	3	1	3	0	1	1	6	1	5	1	3	1	0	3	3	1	2	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:30571943C>T	ENST00000376511.2	-	14	1902	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	450	Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	p.L450L(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TATCATGGCTCAGACGCCGCG	0.562													11	158					0	0	0	0	T	30571943	C	T	30571943	2	4	359	1	0	0	0	0	0	0	0	1	12428	813	29	2		2	PPP1R10	6	30571943	Silent	SNP	C	TCGA-CX-7085-01A-21D-2012-08	4528339	30571943	140543124	58	68252											
IP6K3	117283	broad.mit.edu	37	chr6	33693275	33693275	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctctgcgcacacttcctCatgtggcgggccttcttctc	3	13	10	15	2	4	0	1	0	3	0	6	0	5	0	2	2	2	2	2	2	0	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:33693275C>G	ENST00000451316.1	-	6	1243	c.708G>C	c.(706-708)atG>atC	p.M236I	IP6K3_ENST00000293756.4_Missense_Mutation_p.M236I	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	236					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CACACTTCCTCATGTGGCGGG	0.632													4	40					0	0	0	0	G	33693275	C	G	33693275	3	3	359	1	0	0	0	0	1	0	0	0	7843	826	29	2	532	2	IP6K3	6	33693275	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	3121332	33693275	137421792	59	68253											
DAAM2	23500	broad.mit.edu	37	chr6	39843215	39843215	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgacctggctcccttggaGaacttcaatgtcaagaacat	11	10	8	12	0	2	3	2	1	0	2	3	4	3	3	3	2	2	1	3	2	4	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:39843215G>A	ENST00000538976.1	+	11	1454	c.1272G>A	c.(1270-1272)gaG>gaA	p.E424E	DAAM2_ENST00000398904.2_Silent_p.E424E|DAAM2_ENST00000274867.4_Silent_p.E424E	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	424					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTCCCTTGGAGAACTTCAATG	0.577													11	79					0	0	0	0	A	39843215	G	A	39843215	2	1	359	1	0	0	0	0	0	0	0	1	4249	933	33	2		2	DAAM2	6	39843215	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08	6149940	39843215	131271852	60	68254											
CUL7	9820	broad.mit.edu	37	chr6	43006181	43006181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcccatctcgacctgggttCcttgctgccatctcgaatct	5	13	8	15	2	3	0	0	0	3	0	7	2	5	0	4	1	2	2	4	1	1	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:43006181C>T	ENST00000535468.1	-	25	4935	c.4849G>A	c.(4849-4851)Gaa>Aaa	p.E1617K	CUL7_ENST00000265348.3_Missense_Mutation_p.E1533K	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1533					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GACCTGGGTTCCTTGCTGCCA	0.567													4	62					0	0	0	0	T	43006181	C	T	43006181	3	4	359	1	0	0	0	0	1	0	0	0	4092	864	30	2	507	2	CUL7	6	43006181	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	3162966	43006181	128108886	61	68255											
SMAP1	60682	broad.mit.edu	37	chr6	71562302	71562302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtgccacccctgaacgatGatctggacatctttggaccg	8	9	11	13	3	2	2	0	2	2	0	2	5	2	4	4	3	2	0	4	3	1	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:71562302G>A	ENST00000370455.3	+	8	972	c.724G>A	c.(724-726)Gat>Aat	p.D242N	SMAP1_ENST00000316999.5_Missense_Mutation_p.D215N|SMAP1_ENST00000370452.3_Missense_Mutation_p.D215N	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	242					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CCTGAACGATGATCTGGACAT	0.458													10	134					0	0	0	0	A	71562302	G	A	71562302	3	1	359	1	0	0	0	0	1	0	0	0	14854	1290	45	2	754	2	SMAP1	6	71562302	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	28556121	71562302	99552765	62	68256											
LAMA2	3908	broad.mit.edu	37	chr6	129419471	129419471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taacgctttacaatatttatCcccgcactgggccaccgtca	10	11	6	14	3	1	0	1	0	0	0	2	0	2	0	4	1	2	2	4	1	5	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:129419471C>T	ENST00000421865.2	+	4	599	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	184	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAATATTTATCCCCGCACTGG	0.448													10	68					0	0	0	0	T	129419471	C	T	129419471	3	4	359	1	0	0	0	0	1	0	0	0	8659	855	30	2	564	2	LAMA2	6	129419471	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	57857169	129419471	41695596	63	68257											
RAC1	5879	broad.mit.edu	37	chr7	6431563	6431563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccattctacagctttgacaAttattctgccaatgttatgg	10	16	6	9	0	2	1	0	1	2	0	3	1	3	1	2	1	3	2	2	1	5	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:6431563A>G	ENST00000348035.4	+	3	329	c.116A>G	c.(115-117)aAt>aGt	p.N39S	RAC1_ENST00000356142.4_Missense_Mutation_p.N39S|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	39					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	AGCTTTGACAATTATTCTGCC	0.438													4	64					0	0	0	0	G	6431563	A	G	6431563	3	3	359	1	0	0	0	0	1	0	0	0	13056	101	4	5	126	5	RAC1	7	6431563	Missense_Mutation	SNP	A	TCGA-CX-7085-01A-21D-2012-08		6431563	152707100	64	68258											
RAC1	5879	broad.mit.edu	37	chr7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacctggagtgctcggCgctcacacagcgaggcctca	11	6	11	13	3	2	0	2	0	0	0	3	2	2	1	2	3	3	2	2	3	3	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000356142.4_Missense_Mutation_p.A178V|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GAGTGCTCGGCGCTCACACAG	0.567													6	79					0	0	0	0	T	6441974	C	T	6441974	3	4	359	1	0	0	0	0	1	0	0	0	13056	768	27	1	559	1	RAC1	7	6441974	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	10411	6441974	152696689	65	68259											
GLI3	2737	broad.mit.edu	37	chr7	42084994	42084994	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacttactatccatagcaTgaagatattccatgtggatg	12	13	8	8	0	1	2	1	1	0	1	3	3	3	3	2	1	2	1	2	1	5	5			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:42084994T>A	ENST00000395925.3	-	6	899	c.815A>T	c.(814-816)cAt>cTt	p.H272L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	272					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATCCATAGCATGAAGATATTC	0.502									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				23	217					0	0	0	0	A	42084994	T	A	42084994	3	1	359	1	0	0	0	0	1	0	0	0	6490	1464	51	5	3967	5	GLI3	7	42084994	Missense_Mutation	SNP	T	TCGA-CX-7085-01A-21D-2012-08	35643020	42084994	117053669	66	68260											
DTX2	113878	broad.mit.edu	37	chr7	76109854	76109854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccccaagcccttccctgGtgcaggtgtacaccagcccc	6	7	10	18	0	0	0	0	0	0	0	1	0	1	0	7	3	4	2	7	3	2	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:76109854G>T	ENST00000324432.5	+	4	538	c.28G>T	c.(28-30)Gtg>Ttg	p.V10L	DTX2_ENST00000413936.2_Missense_Mutation_p.V10L|DTX2_ENST00000307569.8_Missense_Mutation_p.V10L|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000430490.2_Missense_Mutation_p.V10L|DTX2_ENST00000446820.2_Missense_Mutation_p.V10L|DTX2_ENST00000446600.1_Intron	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	10	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCCTTCCCTGGTGCAGGTGTA	0.657													4	31					0.00024832	0.00120454	1	0	T	76109854	G	T	76109854	3	4	359	1	0	0	0	0	1	0	0	0	4830	1261	44	4	30	4	DTX2	7	76109854	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	34024860	76109854	83028809	67	68261											
DMTF1	9988	broad.mit.edu	37	chr7	86815200	86815200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaactgggatctgttagctGagggatggagtagtgtccgt	8	13	15	5	1	1	1	0	1	1	0	2	4	2	4	1	3	2	3	1	3	3	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:86815200G>A	ENST00000414194.2	+	12	2099	c.307G>A	c.(307-309)Gag>Aag	p.E103K	DMTF1_ENST00000394703.5_Missense_Mutation_p.E369K|DMTF1_ENST00000432937.2_Missense_Mutation_p.E281K|DMTF1_ENST00000331242.7_Missense_Mutation_p.E369K|DMTF1_ENST00000413276.2_Missense_Mutation_p.E369K			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	369	Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TCTGTTAGCTGAGGGATGGAG	0.393													10	69					0	0	0	0	A	86815200	G	A	86815200	3	1	359	1	0	0	0	0	1	0	0	0	4629	1291	45	2	1143	2	DMTF1	7	86815200	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	10705346	86815200	72323463	68	68262											
GIGYF1	64599	broad.mit.edu	37	chr7	100281196	100281196	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgttgcagctggagttgttCtagaattggaccctgagtcg	8	13	13	7	1	1	2	0	1	1	1	2	4	1	4	1	2	2	5	1	2	2	5			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:100281196C>G	ENST00000275732.5	-	17	3238	c.2029G>C	c.(2029-2031)Gaa>Caa	p.E677Q		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	677										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGGAGTTGTTCTAGAATTGGA	0.612													10	158					0	0	0	0	G	100281196	C	G	100281196	3	3	359	1	0	0	0	0	1	0	0	0	6428	922	32	2	1110	2	GIGYF1	7	100281196	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	13465996	100281196	58857467	69	68263											
SRRT	51593	broad.mit.edu	37	chr7	100482943	100482943	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcataagacctgctccctCttcatgcgcaacatcgcgcc	8	9	7	17	3	2	1	1	0	1	1	4	1	3	1	3	0	4	3	3	0	2	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:100482943C>G	ENST00000388793.4	+	10	1486	c.1266C>G	c.(1264-1266)ctC>ctG	p.L422L	SRRT_ENST00000457580.2_Silent_p.L423L|SRRT_ENST00000347433.4_Silent_p.L423L|SRRT_ENST00000432932.1_Silent_p.L422L	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	423					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCTGCTCCCTCTTCATGCGCA	0.622													6	61					0	0	0	0	G	100482943	C	G	100482943	2	3	359	1	0	0	0	0	0	0	0	1	15262	900	32	2		2	SRRT	7	100482943	Silent	SNP	C	TCGA-CX-7085-01A-21D-2012-08	201747	100482943	58655720	70	68264											
SRRT	51593	broad.mit.edu	37	chr7	100483972	100483972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagattgtgcgcaacgacatCaagctggcggccaagctgat	11	7	12	11	3	1	2	1	1	0	1	1	3	1	2	1	2	4	3	1	2	3	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:100483972C>G	ENST00000388793.4	+	13	1780	c.1560C>G	c.(1558-1560)atC>atG	p.I520M	SRRT_ENST00000457580.2_Missense_Mutation_p.I521M|SRRT_ENST00000347433.4_Missense_Mutation_p.I521M|SRRT_ENST00000432932.1_Missense_Mutation_p.I520M	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	521					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCAACGACATCAAGCTGGCGG	0.617													7	41					0	0	0	0	G	100483972	C	G	100483972	3	3	359	1	0	0	0	0	1	0	0	0	15262	816	29	2	1609	2	SRRT	7	100483972	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	1029	100483972	58654691	71	68265											
LHFPL3	375612	broad.mit.edu	37	chr7	104377175	104377175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatggctgggactcagatGaagtaaaacggatgtgtgga	12	9	15	5	1	1	3	1	2	0	1	1	6	1	6	0	4	1	2	0	4	3	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:104377175G>A	ENST00000535008.1	+	4	623	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	LHFPL3_ENST00000401970.2_Missense_Mutation_p.E153K|LHFPL3_ENST00000424859.1_Missense_Mutation_p.E153K|LHFPL3_ENST00000543266.1_Missense_Mutation_p.E167K			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	153						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						GGACTCAGATGAAGTAAAACG	0.443													5	33					0	0	0	0	A	104377175	G	A	104377175	3	1	359	1	0	0	0	0	1	0	0	0	8820	1291	45	2	505	2	LHFPL3	7	104377175	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	3893203	104377175	54761488	72	68266											
MKRN1	23608	broad.mit.edu	37	chr7	140154936	140154936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cactttctgtctctgtggctCctctctacggccatcagggt	4	14	9	14	1	4	0	1	0	3	0	7	0	5	0	2	3	1	1	2	3	1	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:140154936C>G	ENST00000255977.2	-	7	1419	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	MKRN1_ENST00000474576.1_Missense_Mutation_p.E335Q|MKRN1_ENST00000437223.2_Missense_Mutation_p.E133Q	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	399							ligase activity|nucleic acid binding|protein binding|zinc ion binding	p.E399Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTCTGTGGCTCCTCTCTACGG	0.488													12	158					0	0	0	0	G	140154936	C	G	140154936	3	3	359	1	0	0	0	0	1	0	0	0	9675	864	30	2	261	2	MKRN1	7	140154936	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	35777761	140154936	18983727	73	68267											
INTS10	55174	broad.mit.edu	37	chr8	19683985	19683985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttcttcttgaagatgtatCgaatgtgtatggtgatgtag	9	16	13	3	1	2	3	0	2	2	1	3	4	2	3	0	2	0	4	0	2	5	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr8:19683985C>T	ENST00000397977.3	+	9	1453	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	352					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GAAGATGTATCGAATGTGTAT	0.433													13	101					0	0	0	0	T	19683985	C	T	19683985	3	4	359	1	0	0	0	0	1	0	0	0	7829	893	31	1	1089	1	INTS10	8	19683985	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08		19683985	126680037	74	68268											
NRG1	3084	broad.mit.edu	37	chr8	32621346	32621346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcccccaaatcgcccccttCggaaatgtctccacccgtgt	7	9	6	19	3	1	0	0	0	1	0	5	1	2	1	6	1	0	0	6	1	2	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr8:32621346C>T	ENST00000338921.4	+	13	1890	c.1373C>T	c.(1372-1374)tCg>tTg	p.S458L	NRG1_ENST00000539990.1_Missense_Mutation_p.S293L|NRG1_ENST00000287840.5_Missense_Mutation_p.S450L|NRG1_ENST00000519301.1_Missense_Mutation_p.S400L|NRG1_ENST00000287845.5_Missense_Mutation_p.S421L|NRG1_ENST00000287842.3_Missense_Mutation_p.S447L|NRG1_ENST00000356819.4_Missense_Mutation_p.S455L|NRG1_ENST00000405005.2_Missense_Mutation_p.S450L|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000521670.1_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	450					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCGCCCCCTTCGGAAATGTCT	0.562													11	124					0	0	0	0	T	32621346	C	T	32621346	3	4	359	1	0	0	0	0	1	0	0	0	10718	893	31	1	3120	1	NRG1	8	32621346	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	12937361	32621346	113742676	75	68269											
FAM135B	51059	broad.mit.edu	37	chr8	139164247	139164247	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccaggggatggtctgctCcagcatctgttccagagtca	8	9	11	13	0	3	1	1	0	2	1	5	2	5	2	4	3	2	3	4	3	0	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr8:139164247C>A	ENST00000395297.1	-	13	2641	c.2471G>T	c.(2470-2472)gGa>gTa	p.G824V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	824										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGGTCTGCTCCAGCATCTGT	0.507										HNSCC(54;0.14)			7	76					1.12685e-05	5.57705e-05	1	0	A	139164247	C	A	139164247	3	1	359	1	0	0	0	0	1	0	0	0	5490	855	30	2	1781	2	FAM135B	8	139164247	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	106542901	139164247	7199775	76	68270											
TAF1L	138474	broad.mit.edu	37	chr9	32632475	32632475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgggacaactttttaatctCttcctcaggcacaccaaatt	11	12	6	12	1	2	0	1	0	1	0	4	1	3	1	2	2	1	1	2	2	3	5			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:32632475C>T	ENST00000242310.4	-	1	3192	c.3103G>A	c.(3103-3105)Gag>Aag	p.E1035K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1035					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTTTTAATCTCTTCCTCAGGC	0.488													22	234					0	0	0	0	T	32632475	C	T	32632475	3	4	359	1	0	0	0	0	1	0	0	0	15614	922	32	2	2381	2	TAF1L	9	32632475	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08		32632475	108580956	77	68271											
TGFBR1	7046	broad.mit.edu	37	chr9	101910003	101910003	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacccatcagttgaagaaatGagaaaagttgtttgtgaaca	16	10	10	5	0	1	4	1	3	0	2	1	6	1	4	1	0	1	3	1	0	5	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:101910003G>C	ENST00000374994.4	+	8	1440	c.1323G>C	c.(1321-1323)atG>atC	p.M441I	TGFBR1_ENST00000552516.1_Missense_Mutation_p.M445I|TGFBR1_ENST00000550253.1_Missense_Mutation_p.M372I|TGFBR1_ENST00000374990.2_Missense_Mutation_p.M364I	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	441	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTGAAGAAATGAGAAAAGTTG	0.323													7	55					0	0	0	0	C	101910003	G	C	101910003	3	2	359	1	0	0	0	0	1	0	0	0	15915	1290	45	2	1353	2	TGFBR1	9	101910003	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	69277528	101910003	39303428	78	68272											
IKBKAP	8518	broad.mit.edu	37	chr9	111670656	111670656	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacccacagctcccagtttCactgtagggtcagcacttgg	8	9	9	15	0	2	0	2	0	0	0	3	0	3	0	3	2	2	4	3	2	1	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:111670656C>T	ENST00000374647.5	-	13	1696	c.1389G>A	c.(1387-1389)gtG>gtA	p.V463V	IKBKAP_ENST00000537196.1_Silent_p.V114V	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	463					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTCCCAGTTTCACTGTAGGGT	0.388													4	45					0	0	0	0	T	111670656	C	T	111670656	2	4	359	1	0	0	0	0	0	0	0	1	7663	813	29	2		2	IKBKAP	9	111670656	Silent	SNP	C	TCGA-CX-7085-01A-21D-2012-08	9760653	111670656	29542775	79	68273											
TNFSF8	944	broad.mit.edu	37	chr9	117692466	117692466	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagtggctgtggtcaaatAgaaatagctgcggctcgtgg	10	9	15	7	2	1	2	1	0	0	2	2	2	1	2	0	4	2	3	0	4	4	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:117692466A>G	ENST00000223795.2	-	1	231	c.118T>C	c.(118-120)Tat>Cat	p.Y40H		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	40					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GTGGTCAAATAGAAATAGCTG	0.597													13	114					0	0	0	0	G	117692466	A	G	117692466	3	3	359	1	0	0	0	0	1	0	0	0	16405	420	15	5	602	5	TNFSF8	9	117692466	Missense_Mutation	SNP	A	TCGA-CX-7085-01A-21D-2012-08	6021810	117692466	23520965	80	68274											
GPR107	57720	broad.mit.edu	37	chr9	132854657	132854657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattcatatccttcgaaaacGacggtaaactatttctccct	12	13	5	11	3	2	0	1	0	1	0	5	3	3	0	2	1	2	1	2	1	6	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:132854657G>A	ENST00000372406.1	+	9	1367	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	GPR107_ENST00000372410.3_Missense_Mutation_p.R287Q|GPR107_ENST00000347136.6_Missense_Mutation_p.R287Q	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	287						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CTTCGAAAACGACGGTAAACT	0.418													6	71					0	0	0	0	A	132854657	G	A	132854657	3	1	359	1	0	0	0	0	1	0	0	0	6672	1058	37	1	894	1	GPR107	9	132854657	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	15162191	132854657	8358774	81	68275											
GTF3C4	9329	broad.mit.edu	37	chr9	135554308	135554308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatgactgcagacaaacaGaatggaacagtctatacttg	15	9	8	9	0	1	3	0	1	1	2	2	4	2	4	1	1	4	1	1	1	5	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:135554308G>C	ENST00000372146.4	+	2	1866	c.1302G>C	c.(1300-1302)caG>caC	p.Q434H	GTF3C4_ENST00000483873.2_3'UTR	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	434					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CAGACAAACAGAATGGAACAG	0.453													4	102					0	0	0	0	C	135554308	G	C	135554308	3	2	359	1	0	0	0	0	1	0	0	0	6925	933	33	2	1308	2	GTF3C4	9	135554308	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	2699651	135554308	5659123	82	68276											
NOTCH1	4851	broad.mit.edu	37	chr9	139412282	139412282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacgggttcgagacgcactCgttgacgtcgatctcgcatc	7	9	12	13	7	1	2	0	1	1	1	6	4	1	2	0	1	0	5	0	1	0	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:139412282C>T	ENST00000277541.6	-	8	1438	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	455	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGACGCACTCGTTGACGTCG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			15	51					0	0	0	0	T	139412282	C	T	139412282	3	4	359	1	0	0	0	0	1	0	0	0	10617	893	31	1	6412	1	NOTCH1	9	139412282	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	3857974	139412282	1801149	83	68277											
CACNB2	783	broad.mit.edu	37	chr10	18827254	18827254	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagccgtacattagccacttCaagtctgcctcttagcccca	9	11	6	15	1	3	0	1	0	2	0	3	0	3	0	5	0	5	1	5	0	5	5			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:18827254C>G	ENST00000396576.2	+	12	1784	c.1283C>G	c.(1282-1284)tCa>tGa	p.S428*	RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Nonsense_Mutation_p.S483*|CACNB2_ENST00000377329.4_Nonsense_Mutation_p.S429*|CACNB2_ENST00000377319.3_Nonsense_Mutation_p.S390*|CACNB2_ENST00000352115.6_Nonsense_Mutation_p.S459*|CACNB2_ENST00000282343.8_Nonsense_Mutation_p.S455*|CACNB2_ENST00000377331.2_Nonsense_Mutation_p.S431*|CACNB2_ENST00000377315.4_Nonsense_Mutation_p.S435*|CACNB2_ENST00000377328.1_Nonsense_Mutation_p.S233*	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	483					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTAGCCACTTCAAGTCTGCCT	0.478													9	266					0	0	0	0	G	18827254	C	G	18827254	4	3	359	1	0	0	0	0	0	1	0	0	2578	838	29	2	1808	2	CACNB2	10	18827254	Nonsense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08		18827254	116707493	84	68278											
GPR158	57512	broad.mit.edu	37	chr10	25887142	25887142	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactaacacaaaaactaaaaGaagacagcgaggctgagtcc	20	4	8	9	1	0	3	0	1	0	2	1	4	1	3	1	1	4	1	1	1	7	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:25887142G>C	ENST00000376351.3	+	11	2946	c.2587G>C	c.(2587-2589)Gaa>Caa	p.E863Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	863						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAAACTAAAAGAAGACAGCGA	0.507													5	144					0	0	0	0	C	25887142	G	C	25887142	3	2	359	1	0	0	0	0	1	0	0	0	6712	943	33	2	2629	2	GPR158	10	25887142	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	7059888	25887142	109647605	85	68279											
ARMC4	55130	broad.mit.edu	37	chr10	28229719	28229719	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtggaatcatgtgcacAgtctagtagagcaacctata	12	13	9	7	0	2	1	1	0	1	1	2	2	2	2	1	1	3	3	1	1	6	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:28229719A>T	ENST00000305242.5	-	13	1851	c.1759T>A	c.(1759-1761)Tgt>Agt	p.C587S	ARMC4_ENST00000545014.1_Missense_Mutation_p.C112S|ARMC4_ENST00000537576.1_Missense_Mutation_p.C279S	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	587							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCATGTGCACAGTCTAGTAGA	0.443													6	66					0	0	0	0	T	28229719	A	T	28229719	3	4	359	1	0	0	0	0	1	0	0	0	957	188	7	5	1407	5	ARMC4	10	28229719	Missense_Mutation	SNP	A	TCGA-CX-7085-01A-21D-2012-08	2342577	28229719	107305028	86	68280											
NRP1	8829	broad.mit.edu	37	chr10	33502550	33502550	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttaccaggcggatgttttCaggcatccagtttctgtccc	6	13	11	11	1	2	0	1	0	1	0	4	1	4	1	3	4	1	4	3	4	1	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:33502550C>G	ENST00000265371.4	-	10	1903	c.1378G>C	c.(1378-1380)Gaa>Caa	p.E460Q	NRP1_ENST00000374823.5_Missense_Mutation_p.E460Q|NRP1_ENST00000374867.2_Missense_Mutation_p.E460Q|NRP1_ENST00000374821.5_Missense_Mutation_p.E460Q|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000395995.1_Missense_Mutation_p.E460Q|NRP1_ENST00000374816.3_Missense_Mutation_p.E460Q|NRP1_ENST00000374822.4_Missense_Mutation_p.E460Q			O14786	NRP1_HUMAN	neuropilin 1	460	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CGGATGTTTTCAGGCATCCAG	0.517													11	136					0	0	0	0	G	33502550	C	G	33502550	3	3	359	1	0	0	0	0	1	0	0	0	10731	835	29	2	1440	2	NRP1	10	33502550	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	5272831	33502550	102032197	87	68281											
RHOBTB1	9886	broad.mit.edu	37	chr10	62631978	62631978	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgatttccttacggaacttgGagcatacactgttgtagttg	9	15	10	7	1	0	1	0	1	0	0	1	3	1	3	1	2	4	4	1	2	4	7	rs148172627		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:62631978G>C	ENST00000337910.5	-	10	2223	c.1886C>G	c.(1885-1887)tCc>tGc	p.S629C	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.S629C	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	629					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ACGGAACTTGGAGCATACACT	0.483													5	115					0	0	0	0	C	62631978	G	C	62631978	3	2	359	1	0	0	0	0	1	0	0	0	13416	1174	41	2	212	2	RHOBTB1	10	62631978	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	29129428	62631978	72902769	88	68282											
RUFY2	55680	broad.mit.edu	37	chr10	70156542	70156542	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaatagtactaacctcaaGagatccctctgaataattaa	16	12	4	9	0	2	2	1	1	1	1	3	3	3	2	2	0	2	1	2	0	8	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:70156542G>A	ENST00000388768.2	-	4	824	c.498C>T	c.(496-498)ctC>ctT	p.L166L	RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Silent_p.L131L|RUFY2_ENST00000454950.2_Silent_p.L73L|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000602465.1_Silent_p.L131L	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	180	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						CTAACCTCAAGAGATCCCTCT	0.353													6	41					0	0	0	0	A	70156542	G	A	70156542	2	1	359	1	0	0	0	0	0	0	0	1	13824	929	33	2		2	RUFY2	10	70156542	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08	7524564	70156542	65378205	89	68283											
VCL	7414	broad.mit.edu	37	chr10	75855416	75855416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttttctcttggtccaggtCaggctgccatccgggggctt	3	14	13	11	1	2	0	1	0	1	0	5	0	4	0	3	5	1	3	3	5	0	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:75855416C>G	ENST00000211998.4	+	12	1640	c.1546C>G	c.(1546-1548)Cag>Gag	p.Q516E	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.Q516E|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	516	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TGGTCCAGGTCAGGCTGCCAT	0.527													4	88					0	0	0	0	G	75855416	C	G	75855416	3	3	359	1	0	0	0	0	1	0	0	0	17235	827	29	2	1592	2	VCL	10	75855416	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	5698874	75855416	59679331	90	68284											
LGI1	9211	broad.mit.edu	37	chr10	95556810	95556810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtttggtggctctcacatCtataagcgagacagttttgc	8	14	10	9	1	2	1	1	0	2	1	3	2	2	1	0	2	2	3	0	2	2	5			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:95556810C>G	ENST00000371418.4	+	8	1184	c.924C>G	c.(922-924)atC>atG	p.I308M	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.I260M	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	308					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GCTCTCACATCTATAAGCGAG	0.373													4	77					0	0	0	0	G	95556810	C	G	95556810	3	3	359	1	0	0	0	0	1	0	0	0	8805	903	32	2	954	2	LGI1	10	95556810	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	19701394	95556810	39977937	91	68285											
PDCD11	22984	broad.mit.edu	37	chr10	105203734	105203734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggagaaagctgtgtggatCaaatacggcgccttccttct	10	10	11	10	2	2	1	1	0	1	1	3	3	3	2	2	3	2	1	2	3	3	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:105203734C>G	ENST00000369797.3	+	34	5281	c.5187C>G	c.(5185-5187)atC>atG	p.I1729M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1729					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTGTGTGGATCAAATACGGCG	0.597													9	94					0	0	0	0	G	105203734	C	G	105203734	3	3	359	1	0	0	0	0	1	0	0	0	11688	816	29	2	5317	2	PDCD11	10	105203734	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	9646924	105203734	30331013	92	68286											
ACSL5	51703	broad.mit.edu	37	chr10	114169340	114169340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatgtagagaaaggcttcaCcccgagcctgaaggtgatca	13	7	12	9	1	2	3	2	2	0	1	2	6	2	3	3	2	1	2	3	2	4	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:114169340C>T	ENST00000393081.1	+	7	915	c.608C>T	c.(607-609)aCc>aTc	p.T203I	ACSL5_ENST00000433418.1_Missense_Mutation_p.T203I|ACSL5_ENST00000369410.3_5'UTR|ACSL5_ENST00000354273.4_Missense_Mutation_p.T203I|ACSL5_ENST00000356116.1_Missense_Mutation_p.T259I|ACSL5_ENST00000354655.4_Missense_Mutation_p.T203I	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	203					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AAAGGCTTCACCCCGAGCCTG	0.478													16	118					0	0	0	0	T	114169340	C	T	114169340	3	4	359	1	0	0	0	0	1	0	0	0	180	507	18	4	802	4	ACSL5	10	114169340	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	8965606	114169340	21365407	93	68287											
PRLHR	2834	broad.mit.edu	37	chr10	120353832	120353832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcccaaaggcgtaagggtCgatggcgtgggggtcgaggt	8	6	19	8	4	0	0	0	0	0	0	2	2	0	0	1	6	1	1	1	6	2	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:120353832C>T	ENST00000239032.2	-	2	1063	c.925G>A	c.(925-927)Gac>Aac	p.D309N	PRLHR_ENST00000369169.1_Missense_Mutation_p.D309N	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	309					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCGTAAGGGTCGATGGCGTGG	0.632													5	69					0	0	0	0	T	120353832	C	T	120353832	3	4	359	1	0	0	0	0	1	0	0	0	12610	884	31	1	191	1	PRLHR	10	120353832	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	6184492	120353832	15180915	94	68288											
GRK5	2869	broad.mit.edu	37	chr10	121207689	121207689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaggaggagggggctgcaGaggtcaagagacaccccttc	10	4	16	11	0	1	2	1	0	0	2	2	5	1	4	3	5	1	2	3	5	1	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:121207689G>A	ENST00000392870.2	+	13	1650	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	GRK5_ENST00000369108.3_Missense_Mutation_p.E336K	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	441	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GGGGGCTGCAGAGGTCAAGAG	0.597													21	116					0	0	0	0	A	121207689	G	A	121207689	3	1	359	1	0	0	0	0	1	0	0	0	6842	943	33	2	1371	2	GRK5	10	121207689	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	853857	121207689	14327058	95	68289											
OR51G2	81282	broad.mit.edu	37	chr11	4936270	4936270	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctatacccactgtagagacGatgacaaacatgccgtagat	14	9	8	10	2	1	3	0	1	1	2	1	5	1	3	2	0	3	2	2	0	5	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:4936270G>A	ENST00000322013.3	-	1	652	c.624C>T	c.(622-624)atC>atT	p.I208I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I208I(3)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTAGAGACGATGACAAACA	0.512													4	33					0	0	0	0	A	4936270	G	A	4936270	2	1	359	1	0	0	0	0	0	0	0	1	11170	1048	37	1		1	OR51G2	11	4936270	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08		4936270	130070246	96	68290											
CYP2R1	120227	broad.mit.edu	37	chr11	14899669	14899669	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacatcccaggcagtttCagcgtctttcagcacagatg	12	9	9	11	1	3	1	2	0	1	1	4	2	4	1	1	1	3	3	1	1	2	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:14899669C>A	ENST00000532378.1	-	6	1660	c.806G>T	c.(805-807)tGa>tTa	p.*269L	CYP2R1_ENST00000334636.5_Nonstop_Mutation_p.*502L			Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	0					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CAGGCAGTTTCAGCGTCTTTC	0.418													9	89					0.000442599	0.00213631	1	0	A	14899669	C	A	14899669	4	1	359	1	0	0	0	0	0	0	0	0	4205	837	29	2	4	2	CYP2R1	11	14899669	Nonstop_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	9963399	14899669	120106847	97	68291											
CYP2R1	120227	broad.mit.edu	37	chr11	14900748	14900748	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaacacttctgggtctctCcagtacttttcatcaaagtg	9	14	8	10	0	4	0	2	0	2	0	6	1	5	1	1	2	2	1	1	2	3	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:14900748C>A	ENST00000532378.1	-	5	1397	c.543G>T	c.(541-543)tgG>tgT	p.W181C	CYP2R1_ENST00000334636.5_Missense_Mutation_p.W414C			Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	414					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CTGGGTCTCTCCAGTACTTTT	0.408													5	53					0.000602214	0.00289241	1	0	A	14900748	C	A	14900748	3	1	359	1	0	0	0	0	1	0	0	0	4205	856	30	2	271	2	CYP2R1	11	14900748	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	1079	14900748	120105768	98	68292											
OR5AR1	219493	broad.mit.edu	37	chr11	56431616	56431616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgggctcttacctggctgGtctagtgagtttagtagccc	5	13	13	10	0	2	1	0	1	2	0	2	1	2	1	2	3	2	5	2	3	4	5			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:56431616G>A	ENST00000302969.2	+	1	479	c.455G>A	c.(454-456)gGt>gAt	p.G152D		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TACCTGGCTGGTCTAGTGAGT	0.502													13	161					0	0	0	0	A	56431616	G	A	56431616	3	1	359	1	0	0	0	0	1	0	0	0	11216	1261	44	4	457	4	OR5AR1	11	56431616	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	41530868	56431616	78574900	99	68293											
CTNND1	1500	broad.mit.edu	37	chr11	57578934	57578934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatgatagtactctccctCtcattgaccggaaccaaaaa	14	10	6	11	1	2	3	1	3	2	0	4	4	2	4	3	1	2	1	3	1	5	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:57578934C>T	ENST00000524630.1	+	16	3109	c.2596C>T	c.(2596-2598)Ctc>Ttc	p.L866F	CTNND1_ENST00000532245.1_Missense_Mutation_p.L765F|CTNND1_ENST00000529986.1_Missense_Mutation_p.L765F|CTNND1_ENST00000526357.1_Missense_Mutation_p.L812F|CTNND1_ENST00000428599.2_Missense_Mutation_p.L866F|CTNND1_ENST00000525902.1_Missense_Mutation_p.L549F|CTNND1_ENST00000532463.1_Missense_Mutation_p.L765F|CTNND1_ENST00000415361.2_Missense_Mutation_p.L771F|CTNND1_ENST00000532649.1_Missense_Mutation_p.L812F|CTNND1_ENST00000529919.1_Missense_Mutation_p.L872F|CTNND1_ENST00000533667.1_Missense_Mutation_p.L543F|CTNND1_ENST00000361332.4_Missense_Mutation_p.L866F|CTNND1_ENST00000528621.1_Missense_Mutation_p.L812F|CTNND1_ENST00000530748.1_Missense_Mutation_p.L818F|CTNND1_ENST00000526772.1_Missense_Mutation_p.L543F|CTNND1_ENST00000358694.6_Missense_Mutation_p.L866F|CTNND1_ENST00000529873.1_Missense_Mutation_p.L812F|CTNND1_ENST00000528232.1_Missense_Mutation_p.L771F|CTNND1_ENST00000527467.1_Missense_Mutation_p.L549F|CTNND1_ENST00000530094.1_Missense_Mutation_p.L765F|CTNND1_ENST00000532844.1_Missense_Mutation_p.L818F|CTNND1_ENST00000399039.4_Missense_Mutation_p.L872F|CTNND1_ENST00000534579.1_Missense_Mutation_p.L812F|CTNND1_ENST00000531014.1_Missense_Mutation_p.L543F|CTNND1_ENST00000426142.2_Missense_Mutation_p.L765F|CTNND1_ENST00000360682.6_Missense_Mutation_p.L872F|CTNND1_ENST00000361391.6_Missense_Mutation_p.L866F|CTNND1_ENST00000526938.1_Missense_Mutation_p.L872F|CTNND1_ENST00000529526.1_Missense_Mutation_p.L812F|CTNND1_ENST00000361796.4_Missense_Mutation_p.L866F|CTNND1_ENST00000399050.4_Missense_Mutation_p.L872F|CTNND1_ENST00000532787.1_Missense_Mutation_p.L765F			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	872					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TACTCTCCCTCTCATTGACCG	0.438													8	158					0	0	0	0	T	57578934	C	T	57578934	3	4	359	1	0	0	0	0	1	0	0	0	4051	913	32	2	2672	2	CTNND1	11	57578934	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	1147318	57578934	77427582	100	68294											
CD248	57124	broad.mit.edu	37	chr11	66083138	66083138	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtgtgggatgcgtggcaGagaccaccacaggccgggtg	8	5	18	10	2	0	1	0	0	0	1	0	3	0	2	3	4	1	2	3	4	0	0			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:66083138G>C	ENST00000311330.3	-	1	1377	c.1361C>G	c.(1360-1362)tCt>tGt	p.S454C	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	454	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	ATGCGTGGCAGAGACCACCAC	0.667													7	106					0	0	0	0	C	66083138	G	C	66083138	3	2	359	1	0	0	0	0	1	0	0	0	3018	942	33	2	916	2	CD248	11	66083138	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	8504204	66083138	68923378	101	68295											
RSF1	51773	broad.mit.edu	37	chr11	77412118	77412118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggttatctctgtattttctGaggcagtggtttcttcttca	6	19	9	7	0	5	1	1	1	4	0	6	1	5	1	0	3	0	4	0	3	2	7			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:77412118G>A	ENST00000308488.6	-	6	2458	c.2156C>T	c.(2155-2157)tCa>tTa	p.S719L	RSF1_ENST00000360355.2_Missense_Mutation_p.S688L|RSF1_ENST00000480887.1_Missense_Mutation_p.S467L			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	719					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGTATTTTCTGAGGCAGTGGT	0.428													6	110					0	0	0	0	A	77412118	G	A	77412118	3	1	359	1	0	0	0	0	1	0	0	0	13784	1294	45	2	2213	2	RSF1	11	77412118	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	11328980	77412118	57594398	102	68296											
RSF1	51773	broad.mit.edu	37	chr11	77412372	77412372	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttctcacagtggtcaatGatattagatggtggagaagt	12	13	12	4	0	2	3	2	1	1	2	3	4	2	3	0	3	0	1	0	3	4	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:77412372G>C	ENST00000308488.6	-	6	2204	c.1902C>G	c.(1900-1902)atC>atG	p.I634M	RSF1_ENST00000360355.2_Missense_Mutation_p.I603M|RSF1_ENST00000480887.1_Missense_Mutation_p.I382M			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	634					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AGTGGTCAATGATATTAGATG	0.428													8	106					0	0	0	0	C	77412372	G	C	77412372	3	2	359	1	0	0	0	0	1	0	0	0	13784	1280	45	2	2467	2	RSF1	11	77412372	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	254	77412372	57594144	103	68297											
MMP12	4321	broad.mit.edu	37	chr11	102734890	102734890	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttactgtttttagagtaGaagactgcatcaattttagg	12	16	8	5	0	1	3	1	0	0	3	1	3	1	3	0	1	3	3	0	1	7	8			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:102734890G>C	ENST00000532855.1	-	0	1394							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TTTTAGAGTAGAAGACTGCAT	0.383													3	38					0	0	0	0	C	102734890	G	C	102734890	1	2	359	0	1	0	0	0	0	0	0	0	9720	933	33	2		2	MMP12	11	102734890	RNA	SNP	G	TCGA-CX-7085-01A-21D-2012-08	25322518	102734890	32271626	104	68298											
SLCO1C1	53919	broad.mit.edu	37	chr12	20876121	20876121	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattctctgttcggcatggtGacgtacaaaccaaagtacat	13	11	8	9	2	1	1	0	1	1	0	3	1	1	1	1	2	3	4	1	2	5	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:20876121G>A	ENST00000381552.1	+	9	1487	c.1119G>A	c.(1117-1119)gtG>gtA	p.V373V	SLCO1C1_ENST00000540354.1_Silent_p.V324V|SLCO1C1_ENST00000545102.1_Silent_p.V255V|SLCO1C1_ENST00000545604.1_Silent_p.V373V|SLCO1C1_ENST00000266509.2_Silent_p.V373V			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	373					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TCGGCATGGTGACGTACAAAC	0.423													7	81					0	0	0	0	A	20876121	G	A	20876121	2	1	359	1	0	0	0	0	0	0	0	1	14813	1277	45	2		2	SLCO1C1	12	20876121	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08		20876121	112975774	105	68299											
NCKAP1L	3071	broad.mit.edu	37	chr12	54910753	54910753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagactgtgttggctgatGaaccgggactactgggtcct	7	11	15	8	1	0	3	0	2	0	1	1	5	1	4	2	4	2	2	2	4	2	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:54910753G>A	ENST00000293373.6	+	11	1151	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E308K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	358					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GTTGGCTGATGAACCGGGACT	0.507													9	88					0	0	0	0	A	54910753	G	A	54910753	3	1	359	1	0	0	0	0	1	0	0	0	10292	1291	45	2	1114	2	NCKAP1L	12	54910753	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	34034632	54910753	78941142	106	68300											
TRHDE	29953	broad.mit.edu	37	chr12	72667122	72667122	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacgcttcccgagtggcGgtggagaaagtgcagctggc	7	7	16	11	3	0	1	0	0	0	1	1	3	1	1	1	4	3	4	1	4	1	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:72667122G>A	ENST00000261180.4	+	1	660	c.564G>A	c.(562-564)gcG>gcA	p.A188A	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	188					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCCGAGTGGCGGTGGAGAAAG	0.627													10	65					0	0	0	0	A	72667122	G	A	72667122	2	1	359	1	0	0	0	0	0	0	0	1	16574	1103	39	1		1	TRHDE	12	72667122	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08	17756369	72667122	61184773	107	68301											
SLC5A8	160728	broad.mit.edu	37	chr12	101555757	101555757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttagatagttacctgttGataaactgacaagtatcccc	12	14	7	8	0	0	3	0	2	0	1	1	3	1	3	3	0	2	4	3	0	7	7	rs142965122		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:101555757G>A	ENST00000536262.2	-	13	2183	c.1625C>T	c.(1624-1626)tCa>tTa	p.S542L		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	542					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTTACCTGTTGATAAACTGAC	0.313													6	178					0	0	0	0	A	101555757	G	A	101555757	3	1	359	1	0	0	0	0	1	0	0	0	14759	1294	45	2	219	2	SLC5A8	12	101555757	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	28888635	101555757	32296138	108	68302											
GCN1L1	10985	broad.mit.edu	37	chr12	120572483	120572483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtcctgcagggctttggtGaaagtggtctgcagctgggg	6	10	18	7	0	1	1	0	1	1	0	2	2	2	1	1	5	3	4	1	5	1	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:120572483G>A	ENST00000300648.6	-	52	7068	c.7056C>T	c.(7054-7056)ttC>ttT	p.F2352F		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2352					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCTTTGGTGAAAGTGGTCT	0.582													8	69					0	0	0	0	A	120572483	G	A	120572483	2	1	359	1	0	0	0	0	0	0	0	1	6348	1281	45	2		2	GCN1L1	12	120572483	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08	19016726	120572483	13279412	109	68303											
ACADS	35	broad.mit.edu	37	chr12	121164932	121164932	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatgccgggactttgccgaGaaggagttgtttcccattgc	8	11	12	10	2	0	1	0	0	0	1	1	4	1	3	3	2	3	2	3	2	1	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:121164932G>A	ENST00000242592.4	+	2	301	c.150G>A	c.(148-150)gaG>gaA	p.E50E	ACADS_ENST00000411593.2_Silent_p.E50E	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	50						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	ACTTTGCCGAGAAGGAGTTGT	0.572													11	184					0	0	0	0	A	121164932	G	A	121164932	2	1	359	1	0	0	0	0	0	0	0	1	114	933	33	2		2	ACADS	12	121164932	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08	592449	121164932	12686963	110	68304											
CPB2	1361	broad.mit.edu	37	chr13	46656636	46656636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcgggggctgactgtgtcGttggaaatctgctgttgaat	6	13	15	7	2	1	2	0	2	1	0	3	3	1	3	0	3	1	5	0	3	2	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr13:46656636G>A	ENST00000181383.4	-	4	340	c.324C>T	c.(322-324)aaC>aaT	p.N108N	CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Silent_p.N108N|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	108					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TGACTGTGTCGTTGGAAATCT	0.453													7	109					0	0	0	0	A	46656636	G	A	46656636	2	1	359	1	0	0	0	0	0	0	0	1	3827	1136	40	1		1	CPB2	13	46656636	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08		46656636	68513242	111	68305											
RB1	5925	broad.mit.edu	37	chr13	49033886	49033886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttctgtctgagcacccaGaattagaacatatcatctgg	11	11	8	11	0	4	3	1	1	3	2	4	3	4	3	2	1	2	1	2	1	4	3	rs137853295		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr13:49033886G>C	ENST00000267163.4	+	20	2161	c.2023G>C	c.(2023-2025)Gaa>Caa	p.E675Q		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	675	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGAGCACCCAGAATTAGAACA	0.423		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			6	87					0	0	0	0	C	49033886	G	C	49033886	3	2	359	1	0	0	0	0	1	0	0	0	13180	943	33	2	2101	2	RB1	13	49033886	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	2377250	49033886	66135992	112	68306											
OR4M1	441670	broad.mit.edu	37	chr14	20248859	20248859	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgaccgctatgctgctatCtgccgacccctccactatgc	7	11	7	16	2	1	1	0	1	1	0	2	2	2	1	5	0	4	3	5	0	4	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:20248859C>T	ENST00000315957.4	+	1	459	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGCTGCTATCTGCCGACCCC	0.507													19	512					0	0	0	0	T	20248859	C	T	20248859	2	4	359	1	0	0	0	0	0	0	0	1	11146	903	32	2		2	OR4M1	14	20248859	Silent	SNP	C	TCGA-CX-7085-01A-21D-2012-08		20248859	87100681	113	68307											
ARHGAP5	394	broad.mit.edu	37	chr14	32561983	32561983	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattaattctggctaatcAgagagattccattagtaaga	15	13	7	6	0	2	3	1	0	1	3	3	4	3	3	1	1	1	2	1	1	5	7			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:32561983A>G	ENST00000345122.3	+	2	2423	c.2108A>G	c.(2107-2109)cAg>cGg	p.Q703R	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.Q703R|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.Q703R|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.Q703R	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	703					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTGGCTAATCAGAGAGATTCC	0.373													4	49					0	0	0	0	G	32561983	A	G	32561983	3	3	359	1	0	0	0	0	1	0	0	0	888	188	7	5	2110	5	ARHGAP5	14	32561983	Missense_Mutation	SNP	A	TCGA-CX-7085-01A-21D-2012-08	12313124	32561983	74787557	114	68308											
MIPOL1	145282	broad.mit.edu	37	chr14	37777588	37777588	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgaacagaataaacaatgCagacacagggatagctattc	18	7	8	8	0	0	3	0	1	0	2	1	4	0	4	0	1	4	2	0	1	7	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:37777588C>G	ENST00000327441.7	+	10	1158	c.692C>G	c.(691-693)gCa>gGa	p.A231G	MIPOL1_ENST00000539062.2_Missense_Mutation_p.A200G|MIPOL1_ENST00000536774.1_Missense_Mutation_p.A50G|MIPOL1_ENST00000396294.2_Missense_Mutation_p.A231G|MIPOL1_ENST00000556451.1_Missense_Mutation_p.A200G|MIPOL1_ENST00000537471.1_Missense_Mutation_p.A231G|MIPOL1_ENST00000545536.1_Missense_Mutation_p.A200G	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	231										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ATAAACAATGCAGACACAGGG	0.313													5	128					0	0	0	0	G	37777588	C	G	37777588	3	3	359	1	0	0	0	0	1	0	0	0	9662	710	25	4	718	4	MIPOL1	14	37777588	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	5215605	37777588	69571952	115	68309											
ESR2	2100	broad.mit.edu	37	chr14	64716327	64716327	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgttggagttttaactctcGaaaccttgaagtagttgcca	10	14	10	7	1	1	1	0	1	1	0	2	3	1	2	2	1	3	4	2	1	4	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:64716327G>A	ENST00000557772.1	-	6	1161	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	ESR2_ENST00000555278.1_Nonsense_Mutation_p.R388*|ESR2_ENST00000554572.1_Nonsense_Mutation_p.R388*|ESR2_ENST00000553796.1_Nonsense_Mutation_p.R388*|ESR2_ENST00000542956.1_Nonsense_Mutation_p.R388*|ESR2_ENST00000358599.5_Nonsense_Mutation_p.R388*|ESR2_ENST00000357782.2_Nonsense_Mutation_p.R388*|ESR2_ENST00000353772.3_Nonsense_Mutation_p.R388*|ESR2_ENST00000341099.4_Nonsense_Mutation_p.R388*|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000267525.6_Intron	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	388	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TTTAACTCTCGAAACCTTGAA	0.423													10	62					0	0	0	0	A	64716327	G	A	64716327	4	1	359	1	0	0	0	0	0	1	0	0	5295	1066	37	1	528	1	ESR2	14	64716327	Nonsense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	26938739	64716327	42633213	116	68310											
SPTB	6710	broad.mit.edu	37	chr14	65234494	65234494	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtccactgtgtgtccaaagtCcccgctggccaggtagggct	6	9	13	13	1	0	0	0	0	0	0	3	0	3	0	5	3	0	3	5	3	2	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:65234494C>G	ENST00000389722.3	-	29	6159	c.6106G>C	c.(6106-6108)Gac>Cac	p.D2036H	SPTB_ENST00000389720.3_Missense_Mutation_p.D2036H|SPTB_ENST00000389721.5_Missense_Mutation_p.D2036H|SPTB_ENST00000556626.1_Missense_Mutation_p.D2036H|SPTB_ENST00000542895.1_Missense_Mutation_p.D2036H	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2036					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTCCAAAGTCCCCGCTGGCC	0.617													4	74					0	0	0	0	G	65234494	C	G	65234494	3	3	359	1	0	0	0	0	1	0	0	0	15208	855	30	2	977	2	SPTB	14	65234494	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	518167	65234494	42115046	117	68311											
FLRT2	23768	broad.mit.edu	37	chr14	86088748	86088748	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgactcaaggggtttttgAtaatctctccaacctgaagc	10	12	9	10	0	2	3	1	3	1	0	4	3	3	3	2	2	2	2	2	2	4	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:86088748A>G	ENST00000330753.4	+	2	1657	c.890A>G	c.(889-891)gAt>gGt	p.D297G	FLRT2_ENST00000554746.1_Missense_Mutation_p.D297G	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	297					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)		GGGGTTTTTGATAATCTCTCC	0.443													21	234					0	0	0	0	G	86088748	A	G	86088748	3	3	359	1	0	0	0	0	1	0	0	0	5984	333	12	5	892	5	FLRT2	14	86088748	Missense_Mutation	SNP	A	TCGA-CX-7085-01A-21D-2012-08	20854254	86088748	21260792	118	68312											
TTBK2	146057	broad.mit.edu	37	chr15	43122171	43122171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcaagaatcccacagaatGaatgctttcaatagactcca	16	9	6	10	0	1	4	1	1	0	3	3	4	3	4	2	0	2	2	2	0	6	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr15:43122171G>A	ENST00000267890.6	-	5	505	c.397C>T	c.(397-399)Cat>Tat	p.H133Y	TTBK2_ENST00000567840.1_Missense_Mutation_p.H133Y|TTBK2_ENST00000567274.1_Missense_Mutation_p.H133Y	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	133	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCCACAGAATGAATGCTTTCA	0.458													5	49					0	0	0	0	A	43122171	G	A	43122171	3	1	359	1	0	0	0	0	1	0	0	0	16773	1290	45	2	3381	2	TTBK2	15	43122171	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08		43122171	59409221	119	68313											
SIN3A	25942	broad.mit.edu	37	chr15	75668128	75668128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atccagactatccacattctCcatggtcttcttgctgtttc	7	16	5	13	0	3	1	0	0	3	1	7	1	5	1	3	1	1	2	3	1	1	5			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr15:75668128C>G	ENST00000394947.3	-	20	3783	c.3469G>C	c.(3469-3471)Gag>Cag	p.E1157Q	SIN3A_ENST00000360439.4_Missense_Mutation_p.E1157Q|SIN3A_ENST00000394949.4_Missense_Mutation_p.E1157Q	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1157					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCCACATTCTCCATGGTCTTC	0.463													6	131					0	0	0	0	G	75668128	C	G	75668128	3	3	359	1	0	0	0	0	1	0	0	0	14413	864	30	2	360	2	SIN3A	15	75668128	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	32545957	75668128	26863264	120	68314											
ADAMTS17	170691	broad.mit.edu	37	chr15	100594257	100594257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccttacccgagtctttgaGagctagaaagcaagttgaag	12	9	10	10	1	1	3	0	2	1	2	1	5	1	3	3	0	3	3	3	0	5	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr15:100594257G>C	ENST00000268070.4	-	16	2245	c.2140C>G	c.(2140-2142)Ctc>Gtc	p.L714V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	714	Spacer.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GAGTCTTTGAGAGCTAGAAAG	0.537													11	126					0	0	0	0	C	100594257	G	C	100594257	3	2	359	1	0	0	0	0	1	0	0	0	262	942	33	2	1175	2	ADAMTS17	15	100594257	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	24926129	100594257	1937135	121	68315											
CCNF	899	broad.mit.edu	37	chr16	2495573	2495573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggaggaggctggtgccGcggtacaggctccagctgct	5	7	17	12	3	0	0	0	0	0	0	1	2	1	2	2	6	5	5	2	6	1	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:2495573G>A	ENST00000397066.4	+	10	1132	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	348	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGCTGGTGCCGCGGTACAGGC	0.652													5	51					0	0	0	0	A	2495573	G	A	2495573	2	1	359	1	0	0	0	0	0	0	0	1	2951	1074	38	1		1	CCNF	16	2495573	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08		2495573	87859180	122	68316											
SMG1	23049	broad.mit.edu	37	chr16	18827770	18827770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgtctgaattgccctctGagtagacatatcctgggtca	8	13	9	11	0	4	3	1	2	3	1	5	3	5	3	2	1	1	1	2	1	3	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:18827770G>C	ENST00000446231.2	-	58	10568	c.10156C>G	c.(10156-10158)Cag>Gag	p.Q3386E	SMG1_ENST00000389467.3_Missense_Mutation_p.Q3387E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3386					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATTGCCCTCTGAGTAGACATA	0.413													4	61					0	0	0	0	C	18827770	G	C	18827770	3	2	359	1	0	0	0	0	1	0	0	0	14883	1299	45	2	853	2	SMG1	16	18827770	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	16332197	18827770	71526983	123	68317											
ARHGAP17	55114	broad.mit.edu	37	chr16	24955123	24955123	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccagtcggcatgctgaatGatgggttcaatcactgcaac	12	9	10	10	1	2	2	2	2	0	0	3	2	2	2	1	2	4	4	1	2	4	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:24955123G>A	ENST00000289968.6	-	15	1371	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.I434I	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	434	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CATGCTGAATGATGGGTTCAA	0.428													6	74					0	0	0	0	A	24955123	G	A	24955123	2	1	359	1	0	0	0	0	0	0	0	1	869	1280	45	2		2	ARHGAP17	16	24955123	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08	6127353	24955123	65399630	124	68318											
C16orf93	90835	broad.mit.edu	37	chr16	30771928	30771928	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgcccccctcagtccctactCcctcatctcagcattggtgg	5	10	7	19	1	3	0	3	0	1	0	6	0	5	0	5	2	2	1	5	2	1	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:30771928C>G	ENST00000543610.1	-	3	1259	c.299_splice	c.e3+1	p.E100_splice	C16orf93_ENST00000545825.1_Splice_Site_p.E100_splice|C16orf93_ENST00000541260.1_Splice_Site_p.E100_splice|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	100										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						AGTCCCTACTCCCTCATCTCA	0.522													2	0					0	0	0	0	G	30771928	C	G	30771928	5	3	359	1	0	0	0	0	0	0	1	0	1859	869	30	2	725	2	C16orf93	16	30771928	Splice_Site	SNP	C	TCGA-CX-7085-01A-21D-2012-08	5816805	30771928	59582825	125	68319											
NUP93	9688	broad.mit.edu	37	chr16	56839414	56839414	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctctgttcctttctggcAgaccttcggcatggctgagg	4	14	12	11	1	2	2	0	1	2	1	5	2	3	2	2	4	0	5	2	4	0	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:56839414A>T	ENST00000564887.1	+	3	620		c.e3-1		NUP93_ENST00000569842.1_Splice_Site|NUP93_ENST00000569595.1_3'UTR|NUP93_ENST00000308159.5_Splice_Site|NUP93_ENST00000542526.1_Splice_Site	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCTTTCTGGCAGACCTTCGGC	0.473													4	45					0	0	0	0	T	56839414	A	T	56839414	5	4	359	1	0	0	0	0	0	0	1	0	10843	202	7	5	373	5	NUP93	16	56839414	Splice_Site	SNP	A	TCGA-CX-7085-01A-21D-2012-08	26067486	56839414	33515339	126	68320											
CDH11	1009	broad.mit.edu	37	chr16	65032553	65032553	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtcctggaccttgacaatGaattccgacggtggctccag	9	10	11	11	2	0	2	0	2	0	0	3	4	3	3	4	3	0	1	4	3	2	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:65032553G>C	ENST00000394156.3	-	4	888	c.435C>G	c.(433-435)ttC>ttG	p.F145L	CDH11_ENST00000268603.4_Missense_Mutation_p.F145L|CDH11_ENST00000566827.1_Missense_Mutation_p.F19L			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	145	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCTTGACAATGAATTCCGACG	0.567			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			3	65					0	0	0	0	C	65032553	G	C	65032553	3	2	359	1	0	0	0	0	1	0	0	0	3126	1281	45	2	1995	2	CDH11	16	65032553	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	8193139	65032553	25322200	127	68321											
CDH5	1003	broad.mit.edu	37	chr16	66423424	66423424	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttccccttcttcacccaGagtgagcccctcctctaggg	7	10	7	17	0	3	2	1	1	2	1	5	2	5	2	6	1	2	0	6	1	2	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:66423424G>C	ENST00000341529.3	+	5	928	c.781_splice	c.e5+1	p.Q260_splice	CDH5_ENST00000563425.2_Splice_Site_p.Q260_splice	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	260	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TCTTCACCCAGAGTGAGCCCC	0.602													3	40					0	0	0	0	C	66423424	G	C	66423424	5	2	359	1	0	0	0	0	0	0	1	0	3142	956	33	2	794	2	CDH5	16	66423424	Splice_Site	SNP	G	TCGA-CX-7085-01A-21D-2012-08	1390871	66423424	23931329	128	68322											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66759798	66759798	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagagcctgtctttttactCaacagactgttgaagaagct	11	12	10	8	0	2	4	1	1	1	3	2	5	2	4	1	1	4	2	1	1	4	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:66759798C>T	ENST00000258198.2	-	12	1517	c.1311G>A	c.(1309-1311)ttG>ttA	p.L437L	DYNC1LI2_ENST00000443351.2_Silent_p.L360L|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	437					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TCTTTTTACTCAACAGACTGT	0.458													7	187					0	0	0	0	T	66759798	C	T	66759798	2	4	359	1	0	0	0	0	0	0	0	1	4881	825	29	2		2	DYNC1LI2	16	66759798	Silent	SNP	C	TCGA-CX-7085-01A-21D-2012-08	336374	66759798	23594955	129	68323											
NFAT5	10725	broad.mit.edu	37	chr16	69689635	69689635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaatacaactccttgcaaaGaagtggacattgaaggcact	16	8	9	8	0	0	2	0	1	0	1	1	4	1	3	1	2	3	2	1	2	6	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:69689635G>C	ENST00000349945.1	+	7	2399	c.847G>C	c.(847-849)Gaa>Caa	p.E283Q	NFAT5_ENST00000566899.1_Missense_Mutation_p.E283Q|NFAT5_ENST00000432919.1_Missense_Mutation_p.E377Q|NFAT5_ENST00000354436.2_Missense_Mutation_p.E359Q|NFAT5_ENST00000567239.1_Missense_Mutation_p.E377Q|NFAT5_ENST00000393742.2_Missense_Mutation_p.E283Q	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	359	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCCTTGCAAAGAAGTGGACAT	0.423													3	71					0	0	0	0	C	69689635	G	C	69689635	3	2	359	1	0	0	0	0	1	0	0	0	10430	943	33	2	1151	2	NFAT5	16	69689635	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	2929837	69689635	20665118	130	68324											
VAT1L	57687	broad.mit.edu	37	chr16	77896753	77896753	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctgtgacccacctctttGacagaaatgcagactacgtg	11	10	8	12	1	2	4	0	2	2	2	2	4	2	4	2	0	2	1	2	0	2	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:77896753G>C	ENST00000302536.2	+	4	841	c.688G>C	c.(688-690)Gac>Cac	p.D230H	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	230							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CCACCTCTTTGACAGAAATGC	0.473													4	112					0	0	0	0	C	77896753	G	C	77896753	3	2	359	1	0	0	0	0	1	0	0	0	17226	1290	45	2	702	2	VAT1L	16	77896753	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	8207118	77896753	12458000	131	68325											
CNTROB	116840	broad.mit.edu	37	chr17	7838431	7838431	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagattttcaggggctgagaGatgcattggattcagagcat	11	11	13	6	0	2	4	2	1	0	3	2	6	2	5	0	3	2	3	0	3	0	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:7838431G>C	ENST00000380262.3	+	4	1487	c.562G>C	c.(562-564)Gat>Cat	p.D188H	CNTROB_ENST00000380255.3_Missense_Mutation_p.D188H|CNTROB_ENST00000565740.1_Missense_Mutation_p.D188H|CNTROB_ENST00000563694.1_Missense_Mutation_p.D188H	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	188					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGGGCTGAGAGATGCATTGGA	0.542													3	65					0	0	0	0	C	7838431	G	C	7838431	3	2	359	1	0	0	0	0	1	0	0	0	3681	942	33	2	576	2	CNTROB	17	7838431	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08		7838431	73356779	132	68326											
KRBA2	124751	broad.mit.edu	37	chr17	8273686	8273686	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagctctctgaggcatcatgGagagctgtaagaaggatcct	11	9	12	9	0	2	3	1	1	1	2	4	5	3	4	1	3	2	4	1	3	2	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:8273686G>C	ENST00000331336.2	-	2	250	c.245C>G	c.(244-246)tCc>tGc	p.S82C	RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_5'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	82	KRAB.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						AGGCATCATGGAGAGCTGTAA	0.403													5	78					0	0	0	0	C	8273686	G	C	8273686	3	2	359	1	0	0	0	0	1	0	0	0	8492	1174	41	2	1237	2	KRBA2	17	8273686	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	435255	8273686	72921524	133	68327											
KRBA2	124751	broad.mit.edu	37	chr17	8274828	8274828	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggactggggaagagacaaGagagggcaccaggaatgaag	16	2	17	6	0	0	3	0	1	0	2	0	8	0	6	1	5	0	1	1	5	4	0			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:8274828G>C	ENST00000331336.2	-	1	30	c.25C>G	c.(25-27)Ctt>Gtt	p.L9V	RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Intron	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	9					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						GAAGAGACAAGAGAGGGCACC	0.483													3	56					0	0	0	0	C	8274828	G	C	8274828	3	2	359	1	0	0	0	0	1	0	0	0	8492	942	33	2	1461	2	KRBA2	17	8274828	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	1142	8274828	72920382	134	68328											
FAM83G	644815	broad.mit.edu	37	chr17	18881189	18881189	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccacggccggagctgcctGagtggctgtcctggtcactg	4	8	16	13	2	1	1	1	1	0	0	2	2	2	2	4	5	2	2	4	5	0	0			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:18881189G>C	ENST00000388995.6	-	5	2013	c.1790C>G	c.(1789-1791)tCa>tGa	p.S597*	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Nonsense_Mutation_p.S597*|FAM83G_ENST00000585154.2_Nonsense_Mutation_p.S597*|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	597										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGAGCTGCCTGAGTGGCTGTC	0.642													11	68					0	0	0	0	C	18881189	G	C	18881189	4	2	359	1	0	0	0	0	0	1	0	0	5685	1294	45	2	689	2	FAM83G	17	18881189	Nonsense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	10606361	18881189	62314021	135	68329											
TNFAIP1	7126	broad.mit.edu	37	chr17	26669278	26669278	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgtttttttcagcaactCtgacgaccacctgctgaaaa	11	13	6	11	1	3	2	2	2	1	0	3	3	3	2	2	0	3	3	2	0	3	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:26669278C>G	ENST00000226225.2	+	6	791	c.524C>G	c.(523-525)tCt>tGt	p.S175C	TNFAIP1_ENST00000583213.1_3'UTR|TNFAIP1_ENST00000544907.2_Missense_Mutation_p.S71C	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	175					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TTCAGCAACTCTGACGACCAC	0.572													4	31					0	0	0	0	G	26669278	C	G	26669278	3	3	359	1	0	0	0	0	1	0	0	0	16366	913	32	2	542	2	TNFAIP1	17	26669278	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	7788089	26669278	54525932	136	68330											
LRRC37B	114659	broad.mit.edu	37	chr17	30349042	30349042	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcagcttctacagctccctCaggaggtagaaccttcaacc	10	8	8	15	1	3	1	2	0	1	1	4	2	4	2	3	2	5	4	3	2	4	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:30349042C>G	ENST00000327564.7	+	1	1019	c.958C>G	c.(958-960)Cag>Gag	p.Q320E	LRRC37B_ENST00000394713.3_Missense_Mutation_p.Q293E|LRRC37B_ENST00000584368.1_Missense_Mutation_p.Q305E|LRRC37B_ENST00000341671.7_Missense_Mutation_p.Q293E|LRRC37B_ENST00000543378.2_Missense_Mutation_p.Q211E			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	293						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACAGCTCCCTCAGGAGGTAGA	0.522													16	127					0	0	0	0	G	30349042	C	G	30349042	3	3	359	1	0	0	0	0	1	0	0	0	9058	827	29	2	879	2	LRRC37B	17	30349042	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	3679764	30349042	50846168	137	68331											
ACACA	31	broad.mit.edu	37	chr17	35602001	35602001	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccttcctactcacctgctGaaccttgctggggttgtcca	6	12	8	15	0	1	1	1	1	0	0	3	1	3	1	5	2	4	3	5	2	2	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:35602001G>C	ENST00000353139.5	-	20	3071	c.2590C>G	c.(2590-2592)Cag>Gag	p.Q864E	ACACA_ENST00000335166.5_Missense_Mutation_p.Q749E|ACACA_ENST00000394406.2_Missense_Mutation_p.Q827E|ACACA_ENST00000360679.3_Missense_Mutation_p.Q769E	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	827					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCACCTGCTGAACCTTGCTG	0.498													20	295					0	0	0	0	C	35602001	G	C	35602001	3	2	359	1	0	0	0	0	1	0	0	0	106	1299	45	2	4709	2	ACACA	17	35602001	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	5252959	35602001	45593209	138	68332											
NPEPPS	9520	broad.mit.edu	37	chr17	45662950	45662950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacctgttatgtctacatatCtggtggcatttgttgtgggt	6	17	11	7	0	2	0	0	0	2	0	2	0	2	0	1	3	1	3	1	3	3	5			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:45662950C>G	ENST00000322157.4	+	6	970	c.733C>G	c.(733-735)Ctg>Gtg	p.L245V	NPEPPS_ENST00000530173.1_Missense_Mutation_p.L241V|NPEPPS_ENST00000544660.1_Missense_Mutation_p.L165V|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	245					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GTCTACATATCTGGTGGCATT	0.403													19	133					0	0	0	0	G	45662950	C	G	45662950	3	3	359	1	0	0	0	0	1	0	0	0	10645	912	32	2	755	2	NPEPPS	17	45662950	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	10060949	45662950	35532260	139	68333											
KCNH6	81033	broad.mit.edu	37	chr17	61621693	61621693	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccccaaggcacagccccCaaagccctcaggaagaccca	12	2	8	19	0	1	1	1	0	0	1	1	2	1	2	6	2	3	1	6	2	3	0			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:61621693C>G	ENST00000583023.1	+	12	2436	c.2425C>G	c.(2425-2427)Caa>Gaa	p.Q809E	KCNH6_ENST00000581784.1_Missense_Mutation_p.Q720E|KCNH6_ENST00000314672.5_Missense_Mutation_p.Q773E|KCNH6_ENST00000456941.2_Missense_Mutation_p.Q720E	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	809					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCACAGCCCCCAAAGCCCTCA	0.617													5	35					0	0	0	0	G	61621693	C	G	61621693	3	3	359	1	0	0	0	0	1	0	0	0	8089	595	21	4	2471	4	KCNH6	17	61621693	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	15958743	61621693	19573517	140	68334											
DDX42	11325	broad.mit.edu	37	chr17	61889312	61889312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaaatgaagatgtgacacaGattgtggagattctccattc	13	11	10	7	0	1	5	0	2	1	3	3	6	1	5	1	1	0	1	1	1	2	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:61889312G>C	ENST00000578681.1	+	15	2020	c.1419G>C	c.(1417-1419)caG>caC	p.Q473H	DDX42_ENST00000389924.2_Missense_Mutation_p.Q473H|DDX42_ENST00000583590.1_Missense_Mutation_p.Q473H|DDX42_ENST00000359353.5_Missense_Mutation_p.Q354H|DDX42_ENST00000457800.2_Missense_Mutation_p.Q473H	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	473					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ATGTGACACAGATTGTGGAGA	0.443													27	275					0	0	0	0	C	61889312	G	C	61889312	3	2	359	1	0	0	0	0	1	0	0	0	4394	933	33	2	1469	2	DDX42	17	61889312	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	267619	61889312	19305898	141	68335											
YES1	7525	broad.mit.edu	37	chr18	743308	743308	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctagtttaacctctagtcGcaaagattctcgagggattt	10	14	8	9	2	2	1	0	0	2	1	5	3	3	2	2	1	1	2	2	1	4	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr18:743308G>A	ENST00000584307.1	-	7	1002	c.832C>T	c.(832-834)Cga>Tga	p.R278*	YES1_ENST00000577961.1_Nonsense_Mutation_p.R283*|YES1_ENST00000314574.4_Nonsense_Mutation_p.R278*			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	278	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	ACCTCTAGTCGCAAAGATTCT	0.423													8	55					0	0	0	0	A	743308	G	A	743308	4	1	359	1	0	0	0	0	0	1	0	0	17570	1095	38	1	823	1	YES1	18	743308	Nonsense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08		743308	77333940	142	68336											
ZNF407	55628	broad.mit.edu	37	chr18	72345521	72345521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagacctaaaggtaacatctCacggacgtgttcacactgtg	12	9	10	10	2	2	1	2	0	1	1	3	3	2	2	1	2	1	2	1	2	3	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr18:72345521C>T	ENST00000299687.5	+	1	2546	c.2546C>T	c.(2545-2547)tCa>tTa	p.S849L	ZNF407_ENST00000577538.1_Missense_Mutation_p.S849L|ZNF407_ENST00000309902.6_Missense_Mutation_p.S849L|ZNF407_ENST00000582337.1_Missense_Mutation_p.S849L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	849					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGTAACATCTCACGGACGTGT	0.438													8	74					0	0	0	0	T	72345521	C	T	72345521	3	4	359	1	0	0	0	0	1	0	0	0	17982	838	29	2	2548	2	ZNF407	18	72345521	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	71602213	72345521	5731727	143	68337											
GNA15	2769	broad.mit.edu	37	chr19	3155896	3155896	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaacgtgatcgccctcatCtacctggcctcactgagtga	9	9	10	13	2	3	4	2	3	1	1	4	5	3	4	3	1	2	0	3	1	2	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:3155896C>G	ENST00000262958.3	+	5	948	c.690C>G	c.(688-690)atC>atG	p.I230M		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	230					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TCGCCCTCATCTACCTGGCCT	0.602													3	48					0	0	0	0	G	3155896	C	G	3155896	3	3	359	1	0	0	0	0	1	0	0	0	6554	903	32	2	708	2	GNA15	19	3155896	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08		3155896	55973087	144	68338											
DPY19L3	147991	broad.mit.edu	37	chr19	32954294	32954294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctacaaatcaacaatccGtgggtaaaatggaaaaaggc	18	8	8	7	1	2	0	1	0	1	0	3	1	3	1	1	3	2	1	1	3	8	3	rs148244577	byFrequency	TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:32954294G>A	ENST00000342179.5	+	13	1560	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M	DPY19L3_ENST00000586987.1_Missense_Mutation_p.V449M|DPY19L3_ENST00000392250.2_Missense_Mutation_p.V449M|DPY19L3_ENST00000590651.1_3'UTR	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	449						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TCAACAATCCGTGGGTAAAAT	0.338													6	52					0	0	0	0	A	32954294	G	A	32954294	3	1	359	1	0	0	0	0	1	0	0	0	4778	1145	40	1	1391	1	DPY19L3	19	32954294	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	29798398	32954294	26174689	145	68339											
KIRREL2	84063	broad.mit.edu	37	chr19	36357106	36357106	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaggagtcagtgtgagcctGagccttggcgaagcccctgg	7	7	16	11	2	1	2	1	2	0	0	1	5	1	3	4	3	3	0	4	3	1	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:36357106G>A	ENST00000360202.5	+	15	2037	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Silent_p.L578L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Silent_p.L593L|KIRREL2_ENST00000262625.7_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	613					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGTGAGCCTGAGCCTTGGCG	0.607													12	98					0	0	0	0	A	36357106	G	A	36357106	2	1	359	1	0	0	0	0	0	0	0	1	8377	1277	45	2		2	KIRREL2	19	36357106	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08	3402812	36357106	22771877	146	68340											
LTBP4	8425	broad.mit.edu	37	chr19	41122917	41122917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagcccacgccagggggcGgatgccagggtgggtgtcca	7	5	17	12	2	1	0	1	0	0	0	2	1	2	1	4	5	2	0	4	5	0	0			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:41122917G>A	ENST00000308370.7	+	23	3136	c.3136G>A	c.(3136-3138)Gga>Aga	p.G1046R	LTBP4_ENST00000243562.9_Intron|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.G1009R|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000396819.3_Missense_Mutation_p.G979R	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1046	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCAGGGGGCGGATGCCAGGG	0.602													8	49					0	0	0	0	A	41122917	G	A	41122917	3	1	359	1	0	0	0	0	1	0	0	0	9140	1117	39	1	3519	1	LTBP4	19	41122917	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	4765811	41122917	18006066	147	68341											
CLPTM1	1209	broad.mit.edu	37	chr19	45490456	45490456	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtgaagttcgacgccgtGagcggtgactactatcccat	9	10	12	10	4	0	3	0	3	0	0	2	5	1	3	2	1	2	1	2	1	3	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:45490456G>A	ENST00000541297.2	+	8	1236	c.771G>A	c.(769-771)gtG>gtA	p.V257V	CLPTM1_ENST00000337392.5_Silent_p.V271V|CLPTM1_ENST00000546079.1_Silent_p.V169V|CLPTM1_ENST00000589158.1_3'UTR			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	271					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)		TCGACGCCGTGAGCGGTGACT	0.612													17	157					0	0	0	0	A	45490456	G	A	45490456	2	1	359	1	0	0	0	0	0	0	0	1	3584	1277	45	2		2	CLPTM1	19	45490456	Silent	SNP	G	TCGA-CX-7085-01A-21D-2012-08	4367539	45490456	13638527	148	68342											
SPHK2	56848	broad.mit.edu	37	chr19	49129394	49129394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggcctggtcccgttggccGaggtctcaggctgctgcacc	3	9	15	14	2	1	0	1	0	1	0	3	1	2	0	4	5	2	4	4	5	0	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:49129394G>A	ENST00000443164.1	+	1	1177	c.472G>A	c.(472-474)Gag>Aag	p.E158K	SPHK2_ENST00000599029.1_Missense_Mutation_p.E60K|SPHK2_ENST00000601712.1_Missense_Mutation_p.E60K|SPHK2_ENST00000245222.4_Missense_Mutation_p.E96K|SPHK2_ENST00000340932.3_Missense_Mutation_p.E60K|SPHK2_ENST00000600537.1_Missense_Mutation_p.E37K|SPHK2_ENST00000599033.1_3'UTR|SPHK2_ENST00000599748.1_Missense_Mutation_p.E60K|SPHK2_ENST00000598088.1_Missense_Mutation_p.E96K			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	96	Required for binding to sulfatide and phosphoinositides and for membrane localization.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCCGTTGGCCGAGGTCTCAGG	0.701													8	47					0	0	0	0	A	49129394	G	A	49129394	3	1	359	1	0	0	0	0	1	0	0	0	15137	1059	37	1	292	1	SPHK2	19	49129394	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	3638938	49129394	9999589	149	68343											
ZNF836	162962	broad.mit.edu	37	chr19	52658816	52658816	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgatatcttgcaagttttGaactttggataaatgcccct	10	16	8	7	0	1	2	0	2	1	0	1	3	1	3	2	1	3	2	2	1	5	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:52658816G>C	ENST00000322146.8	-	5	2641	c.2120C>G	c.(2119-2121)tCa>tGa	p.S707*	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Nonsense_Mutation_p.S707*	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGCAAGTTTTGAACTTTGGAT	0.398													11	59					0	0	0	0	C	52658816	G	C	52658816	4	2	359	1	0	0	0	0	0	1	0	0	18280	1294	45	2	692	2	ZNF836	19	52658816	Nonsense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	3529422	52658816	6470167	150	68344											
MYADM	91663	broad.mit.edu	37	chr19	54377026	54377026	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttctccgtgaccctgatCatcctcatcgtggagctgtg	5	13	10	13	2	3	2	2	2	1	0	6	3	4	3	3	1	2	2	3	1	0	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:54377026C>G	ENST00000391769.2	+	3	523	c.243C>G	c.(241-243)atC>atG	p.I81M	MYADM_ENST00000336967.3_Missense_Mutation_p.I81M|MYADM_ENST00000391770.4_Missense_Mutation_p.I81M|MYADM_ENST00000391771.1_Missense_Mutation_p.I81M|MYADM_ENST00000391768.2_Missense_Mutation_p.I81M	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	81	MARVEL 1.			Missing (in Ref. 4; BAC04265).		integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TGACCCTGATCATCCTCATCG	0.642											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	123					0	0	0	0	G	54377026	C	G	54377026	3	3	359	1	0	0	0	0	1	0	0	0	10076	816	29	2	245	2	MYADM	19	54377026	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	1718210	54377026	4751957	151	68345											
FCAR	2204	broad.mit.edu	37	chr19	55401062	55401062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttgatccgcatggccGtggcaggactggtcctcgtg	7	9	14	11	3	0	2	0	1	0	1	3	3	2	3	3	4	1	2	3	4	1	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:55401062G>A	ENST00000355524.3	+	5	707	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	FCAR_ENST00000353758.4_Missense_Mutation_p.V124M|FCAR_ENST00000391726.3_Missense_Mutation_p.V125M|FCAR_ENST00000359272.4_Missense_Mutation_p.V221M|FCAR_ENST00000391724.3_Missense_Mutation_p.V199M|FCAR_ENST00000345937.4_Missense_Mutation_p.V137M|FCAR_ENST00000391725.3_Missense_Mutation_p.V211M|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391723.3_Missense_Mutation_p.R196H	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	233					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCGCATGGCCGTGGCAGGACT	0.527													31	387					0	0	0	0	A	55401062	G	A	55401062	3	1	359	1	0	0	0	0	1	0	0	0	5818	1145	40	1	786	1	FCAR	19	55401062	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	1024036	55401062	3727921	152	68346											
ZNF274	10782	broad.mit.edu	37	chr19	58697097	58697097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaaccagtgacctttgaaGatgtaacactgggttttacc	12	11	10	8	0	0	3	0	2	0	1	0	4	0	4	3	2	3	2	3	2	4	4			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:58697097G>A	ENST00000326804.4	+	3	511	c.52G>A	c.(52-54)Gat>Aat	p.D18N	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.D18N|ZNF274_ENST00000424679.2_Intron	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	18	KRAB 1.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GACCTTTGAAGATGTAACACT	0.517													12	97					0	0	0	0	A	58697097	G	A	58697097	3	1	359	1	0	0	0	0	1	0	0	0	17904	942	33	2	58	2	ZNF274	19	58697097	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	3296035	58697097	431886	153	68347											
CHMP2A	27243	broad.mit.edu	37	chr19	59063499	59063499	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctccttcatatccatgatCtctgcctgccgctcaaactc	7	13	4	17	1	3	1	2	1	1	0	8	1	6	1	5	0	3	1	5	0	2	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:59063499C>T	ENST00000600118.1	-	3	827	c.402G>A	c.(400-402)gaG>gaA	p.E134E	CHMP2A_ENST00000601220.1_Silent_p.E134E|CHMP2A_ENST00000312547.2_Silent_p.E134E			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	134	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TATCCATGATCTCTGCCTGCC	0.512													12	186					0	0	0	0	T	59063499	C	T	59063499	2	4	359	1	0	0	0	0	0	0	0	1	3383	912	32	2		2	CHMP2A	19	59063499	Silent	SNP	C	TCGA-CX-7085-01A-21D-2012-08	366402	59063499	65484	154	68348											
ITPA	3704	broad.mit.edu	37	chr20	3194643	3194643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcaggtacaggggcccGtgctggttgaggacacttgt	6	10	16	9	1	0	1	0	1	0	0	0	2	0	2	1	5	4	5	1	5	1	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr20:3194643G>A	ENST00000380113.3	+	4	394	c.202G>A	c.(202-204)Gtg>Atg	p.V68M	ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000399838.3_Missense_Mutation_p.V27M|ITPA_ENST00000455664.1_Missense_Mutation_p.V51M	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	68					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						ACAGGGGCCCGTGCTGGTTGA	0.627													6	89					0	0	0	0	A	3194643	G	A	3194643	3	1	359	1	0	0	0	0	1	0	0	0	7968	1145	40	1	216	1	ITPA	20	3194643	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08		3194643	59830877	155	68349											
CEP250	11190	broad.mit.edu	37	chr20	34091328	34091328	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgatgcaggaacgggcaGaggaagggaagggcccaagt	13	3	18	7	1	0	2	0	1	0	1	0	5	0	5	1	5	3	3	1	5	4	0			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr20:34091328G>C	ENST00000397527.1	+	30	5851	c.5131G>C	c.(5131-5133)Gag>Cag	p.E1711Q	CEP250_ENST00000342580.4_Missense_Mutation_p.E1655Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1711	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAACGGGCAGAGGAAGGGAA	0.582													6	122					0	0	0	0	C	34091328	G	C	34091328	3	2	359	1	0	0	0	0	1	0	0	0	3281	943	33	2	5237	2	CEP250	20	34091328	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	30896685	34091328	28934192	156	68350											
HMGXB4	10042	broad.mit.edu	37	chr22	35658315	35658315	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttccttctttgtttctcaGacctggtcctgtagacggga	5	17	9	10	1	2	2	1	0	2	2	5	3	4	3	3	2	0	2	3	2	1	6			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr22:35658315G>C	ENST00000216106.5	+	2	60		c.e2-1		HMGXB4_ENST00000444518.2_Splice_Site	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4						endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGTTTCTCAGACCTGGTCCT	0.512													11	119					0	0	0	0	C	35658315	G	C	35658315	5	2	359	1	0	0	0	0	0	0	1	0	7289	956	33	2		2	HMGXB4	22	35658315	Splice_Site	SNP	G	TCGA-CX-7085-01A-21D-2012-08		35658315	15646251	157	68351											
PACSIN2	11252	broad.mit.edu	37	chr22	43272940	43272940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgacggtgctgcccgtgtCgtcctcatcctcgaaggggt	5	10	13	13	4	1	1	1	1	0	0	5	2	3	1	3	3	2	1	3	3	1	0			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr22:43272940C>T	ENST00000263246.3	-	9	1306	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	PACSIN2_ENST00000402229.1_Missense_Mutation_p.D369N|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000403744.3_Missense_Mutation_p.D369N|PACSIN2_ENST00000337959.4_Intron|PACSIN2_ENST00000407585.1_Intron	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	369					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CTGCCCGTGTCGTCCTCATCC	0.567													12	164					0	0	0	0	T	43272940	C	T	43272940	3	4	359	1	0	0	0	0	1	0	0	0	11446	884	31	1	367	1	PACSIN2	22	43272940	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	7614625	43272940	8031626	158	68352											
PLXNB2	23654	broad.mit.edu	37	chr22	50728422	50728422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgtggtccgtgtaggcttCaaaggcctccctgctgtcag	5	10	14	12	2	2	0	2	0	0	0	4	0	4	0	3	4	1	3	3	4	2	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr22:50728422C>T	ENST00000449103.1	-	3	732	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E198K			O15031	PLXB2_HUMAN	plexin B2	198	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGTAGGCTTCAAAGGCCTCC	0.607													5	57					0	0	0	0	T	50728422	C	T	50728422	3	4	359	1	0	0	0	0	1	0	0	0	12196	835	29	2	5064	2	PLXNB2	22	50728422	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	7455482	50728422	576144	159	68353											
SPIN3	169981	broad.mit.edu	37	chrX	57020780	57020780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctatgacttctcctggctCcctctctgccagaggagaat	7	12	9	13	0	3	3	0	1	3	2	6	4	4	3	3	2	1	1	3	2	2	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:57020780C>T	ENST00000374919.3	-	2	923	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	201					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TCTCCTGGCTCCCTCTCTGCC	0.463													11	63					0	0	0	0	T	57020780	C	T	57020780	3	4	359	1	0	0	0	0	1	0	0	0	15145	864	30	2	179	2	SPIN3	23	57020780	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08		57020780	98249780	160	68354											
HEPH	9843	broad.mit.edu	37	chrX	65486458	65486458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgacagagaaagctacgaCgcaataggaggtccatcctg	14	6	11	10	3	0	1	0	0	0	1	3	5	2	2	2	2	2	2	2	2	4	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:65486458C>T	ENST00000519389.1	+	21	3762	c.3583C>T	c.(3583-3585)Cgc>Tgc	p.R1195C	HEPH_ENST00000343002.2_Missense_Mutation_p.R1141C|HEPH_ENST00000336279.5_Missense_Mutation_p.R874C|HEPH_ENST00000441993.2_Missense_Mutation_p.R1143C|HEPH_ENST00000374727.3_Missense_Mutation_p.R1144C|HEPH_ENST00000419594.1_Missense_Mutation_p.R952C			Q9BQS7	HEPH_HUMAN	hephaestin	1141					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAAGCTACGACGCAATAGGAG	0.498													5	48					0	0	0	0	T	65486458	C	T	65486458	3	4	359	1	0	0	0	0	1	0	0	0	7104	536	19	1	3665	1	HEPH	23	65486458	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	8465678	65486458	89784102	161	68355											
XKRX	402415	broad.mit.edu	37	chrX	100177939	100177939	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcccacctcccattctatCagcacctcctcgccatctat	7	11	4	19	1	3	0	1	0	2	0	6	0	5	0	6	1	1	1	6	1	2	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:100177939C>G	ENST00000328526.5	-	2	1051	c.486G>C	c.(484-486)ctG>ctC	p.L162L	XKRX_ENST00000372956.2_Silent_p.L149L|XKRX_ENST00000468904.1_Intron	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	149						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CCCATTCTATCAGCACCTCCT	0.547													6	157					0	0	0	0	G	100177939	C	G	100177939	2	3	359	1	0	0	0	0	0	0	0	1	17535	813	29	2		2	XKRX	23	100177939	Silent	SNP	C	TCGA-CX-7085-01A-21D-2012-08	34691481	100177939	55092621	162	68356											
GRIA3	2892	broad.mit.edu	37	chrX	122551330	122551330	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatttttcaaagccattcatGagcctgggcatctccatcat	10	13	7	11	0	4	1	3	1	1	0	5	2	4	1	3	1	2	1	3	1	1	3			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:122551330G>C	ENST00000264357.5	+	11	1870	c.1578G>C	c.(1576-1578)atG>atC	p.M526I	GRIA3_ENST00000542149.1_Missense_Mutation_p.M526I|GRIA3_ENST00000541091.1_Missense_Mutation_p.M510I|GRIA3_ENST00000371251.1_Missense_Mutation_p.M526I|GRIA3_ENST00000371256.5_Missense_Mutation_p.M526I	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	526					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGCCATTCATGAGCCTGGGCA	0.398													9	217					0	0	0	0	C	122551330	G	C	122551330	3	2	359	1	0	0	0	0	1	0	0	0	6819	1290	45	2	1620	2	GRIA3	23	122551330	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	22373391	122551330	32719230	163	68357											
THOC2	57187	broad.mit.edu	37	chrX	122747943	122747943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttttcatcttttttctctCtttctctggatctttccctt	2	24	2	13	0	6	0	1	0	5	0	9	1	7	1	2	1	0	0	2	1	0	8			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:122747943C>T	ENST00000245838.8	-	34	4440	c.4409G>A	c.(4408-4410)aGa>aAa	p.R1470K	THOC2_ENST00000355725.4_Missense_Mutation_p.R1470K|THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000491737.1_Missense_Mutation_p.R1355K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1470	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTTTTTCTCTCTTTCTCTGGA	0.378													8	111					0	0	0	0	T	122747943	C	T	122747943	3	4	359	1	0	0	0	0	1	0	0	0	15959	913	32	2	392	2	THOC2	23	122747943	Missense_Mutation	SNP	C	TCGA-CX-7085-01A-21D-2012-08	196613	122747943	32522617	164	68358											
MAGEC1	9947	broad.mit.edu	37	chrX	140993500	140993500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaattctcagagttctcctGaggggaaggactccctgtct	9	11	11	10	0	3	3	1	1	3	2	6	5	4	5	2	3	0	1	2	3	2	2			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:140993500G>C	ENST00000285879.4	+	4	596	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	104							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTTCTCCTGAGGGGAAGGA	0.562										HNSCC(15;0.026)			11	130					0	0	0	0	C	140993500	G	C	140993500	3	2	359	1	0	0	0	0	1	0	0	0	9249	1291	45	2	316	2	MAGEC1	23	140993500	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	18245557	140993500	14277060	165	68359											
ABCD1	215	broad.mit.edu	37	chrX	153006171	153006171	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccacatcctgcagcgggaggGaggtaggaggcctggggctg	7	5	19	10	1	0	0	0	0	0	0	1	3	1	3	3	7	2	3	3	7	1	1			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:153006171G>C	ENST00000218104.3	+	7	2177	c.1778G>C	c.(1777-1779)gGa>gCa	p.G593A	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	593	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGGGAGGGAGGTAGGAGG	0.612													10	71					0	0	0	0	C	153006171	G	C	153006171	3	2	359	1	0	0	0	0	1	0	0	0	60	1174	41	2	1804	2	ABCD1	23	153006171	Missense_Mutation	SNP	G	TCGA-CX-7085-01A-21D-2012-08	12012671	153006171	2264389	166	68360											
CDK11A	728642	broad.mit.edu	37	chr1	1650883	1650885	+	In_Frame_Del	DEL	TCT	TCT	-																															gtttgatggccaaagaatcaTcttcttctcctctgaaataa																								rs147453611	by1000genomes	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:1650883_1650885delTCT	ENST00000356200.3	-	3	369_371	c.135_137delAGA	c.(133-138)gat>ga	p.ED45del	CDK11A_ENST00000378633.1_In_Frame_Del_p.ED79del|CDK11A_ENST00000404249.3_In_Frame_Del_p.ED79del|CDK11A_ENST00000378638.2_In_Frame_Del_p.ED45del|CDK11A_ENST00000357760.2_In_Frame_Del_p.ED79del|CDK11A_ENST00000358779.5_In_Frame_Del_p.ED79del|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378635.3_In_Frame_Del_p.ED79del					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CAAAGAATCATCTTCTTCTCCTC	0.394													30	286	---	---	---	---					-	1650885	TCT	-	1650883	7	5	360	1	0	1	0	1	0	0	0	0	3155	1435	50	0	2171	0	CDK11A	1	1650883	In_Frame_Del	DEL	TCT	TCGA-CX-7086-01A-11D-2078-08		1650883	247599738	1	68361											
ZNF436	80818	broad.mit.edu	37	chr1	23689135	23689136	+	Frame_Shift_Ins	INS	-	-	CA																															ctcacactcatagggtttctINScaccactgtgggtcctttgg																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:23689135_23689136insCA	ENST00000314011.4	-	4	875_876	c.739_740insTG	c.(739-741)gaafs	p.E247fs	ZNF436_ENST00000374608.3_Frame_Shift_Ins_p.E247fs|ZNF436_ENST00000374609.1_Frame_Shift_Ins_p.E247fs	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ATAGGGTTTCTCACCACTGTGG	0.5													33	51	---	---	---	---					CA	23689136	-	CA	23689135	7	5	360	1	0	1	1	0	0	0	0	0	18004	1551	54	0	676	0	ZNF436	1	23689135	Frame_Shift_Ins	INS	-	TCGA-CX-7086-01A-11D-2078-08	22038252	23689135	225561486	2	68362											
MRPS15	64960	broad.mit.edu	37	chr1	36921787	36921787	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccgcaattctgactcgtaCccgaatgcacagagccttct	10	9	8	14	3	2	2	0	1	2	1	3	3	2	2	3	0	4	3	3	0	3	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:36921787C>G	ENST00000373116.5	-	7	798		c.e7+1		MRPS15_ENST00000488606.1_Splice_Site	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15						translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGACTCGTACCCGAATGCAC	0.552													9	48					0	0	0	0	G	36921787	C	G	36921787	5	3	360	1	0	0	0	0	0	0	1	0	9895	521	18	4	144	4	MRPS15	1	36921787	Splice_Site	SNP	C	TCGA-CX-7086-01A-11D-2078-08	13232652	36921787	212328834	3	68363											
GRIK3	2899	broad.mit.edu	37	chr1	37271712	37271712	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcgctcacccatgggCgtgccgatgccgtagccctt	4	8	11	18	4	1	0	1	0	0	0	2	1	1	0	6	1	3	2	6	1	1	2	rs114469448	by1000genomes	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:37271712C>T	ENST00000373091.3	-	14	2323	c.2307G>A	c.(2305-2307)acG>acA	p.T769T	GRIK3_ENST00000373093.4_Silent_p.T769T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	769					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CACCCATGGGCGTGCCGATGC	0.647													12	35					0	0	0	0	T	37271712	C	T	37271712	2	4	360	1	0	0	0	0	0	0	0	1	6825	755	27	1		1	GRIK3	1	37271712	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	349925	37271712	211978909	4	68364											
HPDL	84842	broad.mit.edu	37	chr1	45793381	45793381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacgactgcctgggcttttgCcacttgccgctgagcccagg	5	9	12	15	2	0	1	0	1	0	0	0	2	0	1	4	2	4	2	4	2	0	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:45793381C>T	ENST00000334815.3	+	1	837	c.561C>T	c.(559-561)tgC>tgT	p.C187C		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	187					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGGGCTTTTGCCACTTGCCGC	0.672													3	35					0	0	0	0	T	45793381	C	T	45793381	2	4	360	1	0	0	0	0	0	0	0	1	7383	747	26	4		4	HPDL	1	45793381	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	8521669	45793381	203457240	5	68365											
NASP	4678	broad.mit.edu	37	chr1	46073825	46073825	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggactagaggagaaggtCagggcaaagctggttcctag	12	7	15	7	0	2	2	2	0	0	2	3	4	3	3	1	5	1	3	1	5	4	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:46073825C>G	ENST00000350030.3	+	6	1329	c.1242C>G	c.(1240-1242)gtC>gtG	p.V414V	NASP_ENST00000372052.4_Intron|NASP_ENST00000402363.3_Silent_p.V416V|NASP_ENST00000537798.1_Silent_p.V350V|NASP_ENST00000351223.3_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	414	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGGAGAAGGTCAGGGCAAAGC	0.493													11	46					0	0	0	0	G	46073825	C	G	46073825	2	3	360	1	0	0	0	0	0	0	0	1	10242	813	29	2		2	NASP	1	46073825	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	280444	46073825	203176796	6	68366											
NRD1	4898	broad.mit.edu	37	chr1	52287187	52287187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttgtttggtatctgagaGaagatttcagtcacccactt	10	15	8	8	0	3	3	2	1	1	2	3	4	3	3	1	1	1	2	1	1	3	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:52287187G>C	ENST00000354831.7	-	10	1593	c.1404C>G	c.(1402-1404)ttC>ttG	p.F468L	NRD1_ENST00000544028.1_Missense_Mutation_p.F268L|NRD1_ENST00000539524.1_Missense_Mutation_p.F336L|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.F400L	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	399					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GTATCTGAGAGAAGATTTCAG	0.373													4	33					0	0	0	0	C	52287187	G	C	52287187	3	2	360	1	0	0	0	0	1	0	0	0	10716	933	33	2	2351	2	NRD1	1	52287187	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	6213362	52287187	196963434	7	68367											
CACHD1	57685	broad.mit.edu	37	chr1	64936610	64936610	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggcggccgaggagctgggGgtcgtcaccatgcaggtaag	7	6	18	10	3	1	0	1	0	0	0	2	2	1	1	2	6	2	3	2	6	1	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:64936610G>A	ENST00000371073.2	+	1	183	c.183G>A	c.(181-183)ggG>ggA	p.G61G	CACHD1_ENST00000290039.5_Silent_p.G10G			Q5VU97	CAHD1_HUMAN	cache domain containing 1	61					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGGAGCTGGGGGTCGTCACCA	0.672													10	10					0	0	0	0	A	64936610	G	A	64936610	2	1	360	1	0	0	0	0	0	0	0	1	2562	1219	43	4		4	CACHD1	1	64936610	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	12649423	64936610	184314011	8	68368											
AMY2B	280	broad.mit.edu	37	chr1	104115729	104115729	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaatcatatgtctggtaaTgctgtgagtgcaggaacaag	13	12	11	5	0	2	1	1	1	1	0	2	2	2	2	0	2	3	3	0	2	5	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:104115729T>A	ENST00000361355.4	+	5	976	c.360T>A	c.(358-360)aaT>aaA	p.N120K	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	120					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGTCTGGTAATGCTGTGAGTG	0.408													139	141					0	0	0	0	A	104115729	T	A	104115729	3	1	360	1	0	0	0	0	1	0	0	0	595	1461	51	5	370	5	AMY2B	1	104115729	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	39179119	104115729	145134892	9	68369											
BCL9	607	broad.mit.edu	37	chr1	147091317	147091317	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttccaccttctatgaactcCcagtctgggaccataggacc	9	10	8	14	0	2	1	0	1	2	0	4	3	4	3	5	2	1	1	5	2	3	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:147091317C>T	ENST00000234739.3	+	8	2096	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	452	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTATGAACTCCCAGTCTGGGA	0.532			T	"IGH@, IGL@"	B-ALL								12	55					0	0	0	0	T	147091317	C	T	147091317	2	4	360	1	0	0	0	0	0	0	0	1	1385	610	22	4		4	BCL9	1	147091317	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	42975588	147091317	102159304	10	68370											
HIST2H3D	653604	broad.mit.edu	37	chr1	149785127	149785127	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccggtagcggtgcggcttcTtcaccccgcccgtggccggc	2	7	15	17	6	2	0	1	0	1	0	2	0	2	0	5	5	2	2	5	5	1	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:149785127T>A	ENST00000331491.1	-	1	109	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	37					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GTGCGGCTTCTTCACCCCGCC	0.697													5	23					0	0	0	0	A	149785127	T	A	149785127	3	1	360	1	0	0	0	0	1	0	0	0	7231	1609	56	5	302	5	HIST2H3D	1	149785127	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	2693810	149785127	99465494	11	68371											
APH1A	51107	broad.mit.edu	37	chr1	150241157	150241157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagtgatcaagaaaagcgcGaaggccgggccgaacgcgac	14	2	14	11	6	1	2	1	1	0	1	1	5	1	2	2	2	2	0	2	2	5	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:150241157G>A	ENST00000360244.4	-	1	546	c.54C>T	c.(52-54)ttC>ttT	p.F18F	APH1A_ENST00000461320.1_5'UTR|C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000414276.2_Silent_p.F18F|APH1A_ENST00000369109.3_Silent_p.F18F	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	18					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAAAAGCGCGAAGGCCGGGC	0.652													4	8					0	0	0	0	A	150241157	G	A	150241157	2	1	360	1	0	0	0	0	0	0	0	1	772	1049	37	1		1	APH1A	1	150241157	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	456030	150241157	99009464	12	68372											
FLG	2312	broad.mit.edu	37	chr1	152276145	152276145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtctcgtgcctgctcGtggcgggatccttgtcttcc	2	13	13	13	3	2	0	0	0	2	0	6	2	4	1	3	2	3	2	3	2	0	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:152276145G>A	ENST00000368799.1	-	3	11252	c.11217C>T	c.(11215-11217)caC>caT	p.H3739H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3739	Ser-rich.		H -> Y (in dbSNP:rs7512553).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H3739H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCTGCTCGTGGCGGGATC	0.602									Ichthyosis				16	363					0	0	0	0	A	152276145	G	A	152276145	2	1	360	1	0	0	0	0	0	0	0	1	5967	1136	40	1		1	FLG	1	152276145	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	2034988	152276145	96974476	13	68373											
FLG	2312	broad.mit.edu	37	chr1	152283117	152283117	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctgctgatggggcccagcTtgtccgtgggctgacactga	5	10	14	12	1	1	3	0	3	1	0	2	3	2	3	2	3	2	3	2	3	0	1	rs150981235		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:152283117T>C	ENST00000368799.1	-	3	4280	c.4245A>G	c.(4243-4245)caA>caG	p.Q1415Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1415	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCCCAGCTTGTCCGTGGG	0.562									Ichthyosis				10	247					0	0	0	0	C	152283117	T	C	152283117	2	2	360	1	0	0	0	0	0	0	0	1	5967	1606	56	5		5	FLG	1	152283117	Silent	SNP	T	TCGA-CX-7086-01A-11D-2078-08	6972	152283117	96967504	14	68374											
AQP10	89872	broad.mit.edu	37	chr1	154296361	154296361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccctgggtccacagcactCtgcctttaaaatagctctct	8	12	7	14	0	2	0	0	0	2	0	5	0	4	0	3	1	3	2	3	1	3	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:154296361C>T	ENST00000484864.1	+	5	822	c.786C>T	c.(784-786)ctC>ctT	p.L262L	AQP10_ENST00000324978.3_Intron|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	0					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACAGCACTCTGCCTTTAAA	0.527													2	3					0	0	0	0	T	154296361	C	T	154296361	2	4	360	1	0	0	0	0	0	0	0	1	824	928	32	2		2	AQP10	1	154296361	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	2013244	154296361	94954260	15	68375											
IQGAP3	128239	broad.mit.edu	37	chr1	156504953	156504953	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggggagacaacacttGccttatagacctcgctgtct	8	10	13	10	1	1	2	0	0	1	2	2	3	1	2	2	4	2	1	2	4	3	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:156504953G>T	ENST00000361170.2	-	28	3518		c.e28+1			NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3						small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACAACACTTGCCTTATAGAC	0.507													27	108					5.09552e-08	5.79526e-08	1	0	T	156504953	G	T	156504953	5	4	360	1	0	0	0	0	0	0	1	0	7869	1333	46	4	1430	4	IQGAP3	1	156504953	Splice_Site	SNP	G	TCGA-CX-7086-01A-11D-2078-08	2208592	156504953	92745668	16	68376											
FCGR2A	2212	broad.mit.edu	37	chr1	161487824	161487824	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagaaaccaacaatgaCtatgaaacagctgacggcgg	16	6	10	9	2	0	5	0	4	0	1	0	5	0	5	1	2	4	1	1	2	6	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:161487824C>T	ENST00000271450.6	+	7	878	c.840C>T	c.(838-840)gaC>gaT	p.D280D	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000461298.1_Silent_p.D15D|FCGR2A_ENST00000367972.4_Silent_p.D279D	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	280						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAACAATGACTATGAAACAG	0.448													28	15					0	0	0	0	T	161487824	C	T	161487824	2	4	360	1	0	0	0	0	0	0	0	1	5826	564	20	4		4	FCGR2A	1	161487824	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	4982871	161487824	87762797	17	68377											
OLFML2B	25903	broad.mit.edu	37	chr1	161953788	161953788	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgctcaggacaatgacctCctggctgaagccctcatcgt	8	10	9	14	1	2	2	2	2	0	0	4	3	3	3	3	2	2	2	3	2	2	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:161953788C>A	ENST00000294794.3	-	8	2353	c.1930G>T	c.(1930-1932)Gag>Tag	p.E644*	OLFML2B_ENST00000367938.1_Nonsense_Mutation_p.E127*|OLFML2B_ENST00000367940.2_Nonsense_Mutation_p.E645*	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	644	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ACAATGACCTCCTGGCTGAAG	0.607													38	8					2.35968e-33	2.87614e-33	1	0	A	161953788	C	A	161953788	4	1	360	1	0	0	0	0	0	1	0	0	10929	864	30	2	326	2	OLFML2B	1	161953788	Nonsense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	465964	161953788	87296833	18	68378											
DNM3	26052	broad.mit.edu	37	chr1	172376929	172376929	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccggagaccacccccatCaccaactcgtcccactataa	12	6	5	18	2	1	1	1	0	0	1	3	2	2	1	6	1	2	0	6	1	4	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:172376929C>A	ENST00000358155.4	+	21	2716	c.2540C>A	c.(2539-2541)tCa>tAa	p.S847*	DNM3_ENST00000367731.1_Nonsense_Mutation_p.S843*|PIGC_ENST00000484368.1_Intron|DNM3_ENST00000355305.5_Nonsense_Mutation_p.S853*	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	853					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCACCCCCATCACCAACTCGT	0.433													66	38					2.42712e-22	2.92523e-22	1	0	A	172376929	C	A	172376929	4	1	360	1	0	0	0	0	0	1	0	0	4709	838	29	2	2622	2	DNM3	1	172376929	Nonsense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	10423141	172376929	76873692	19	68379											
SERPINC1	462	broad.mit.edu	37	chr1	173878987	173878987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataacggaacttgccttcctGgtacatcatagatgctgaac	12	11	8	10	1	1	2	1	1	0	1	2	3	2	3	2	2	6	2	2	2	5	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:173878987G>T	ENST00000367698.3	-	5	974	c.856C>A	c.(856-858)Cag>Aag	p.Q286K		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	286			Missing (in AT3D; type-I).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TTGCCTTCCTGGTACATCATA	0.522													13	65					2.27111e-07	2.55599e-07	1	0	T	173878987	G	T	173878987	3	4	360	1	0	0	0	0	1	0	0	0	14196	1357	47	4	550	4	SERPINC1	1	173878987	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	1502058	173878987	75371634	20	68380											
PPFIA4	8497	broad.mit.edu	37	chr1	203024771	203024771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcccgcagtgctgcccagGacctggaccgaatgggggtc	6	6	14	15	2	0	0	0	0	0	0	2	3	1	2	5	4	2	2	5	4	1	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:203024771G>A	ENST00000367240.2	+	15	2505	c.1978G>A	c.(1978-1980)Gac>Aac	p.D660N	PPFIA4_ENST00000599966.1_Missense_Mutation_p.D175N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.D175N|PPFIA4_ENST00000447715.2_Missense_Mutation_p.D659N|PPFIA4_ENST00000295706.4_Missense_Mutation_p.D175N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.D388N			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	175					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGCTGCCCAGGACCTGGACCG	0.657													9	43					0	0	0	0	A	203024771	G	A	203024771	3	1	360	1	0	0	0	0	1	0	0	0	12383	1174	41	2	533	2	PPFIA4	1	203024771	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	29145784	203024771	46225850	21	68381											
REN	5972	broad.mit.edu	37	chr1	204124947	204124947	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggggccgactcgaacctcaCctgaaatacatagtccgcgc	10	6	11	14	4	1	1	1	1	0	0	3	3	2	1	4	2	2	0	4	2	4	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:204124947C>A	ENST00000367195.2	-	8	1094		c.e8+1		REN_ENST00000272190.8_Splice_Site			P00797	RENI_HUMAN	renin						angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TCGAACCTCACCTGAAATACA	0.532													12	5					7.03913e-09	8.06255e-09	1	0	A	204124947	C	A	204124947	5	1	360	1	0	0	0	0	0	0	1	0	13306	521	18	4	168	4	REN	1	204124947	Splice_Site	SNP	C	TCGA-CX-7086-01A-11D-2078-08	1100176	204124947	45125674	22	68382											
NUAK2	81788	broad.mit.edu	37	chr1	205272902	205272902	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgagttcatccagggagccGaaggtggtgggggccgcgag	7	5	20	9	4	1	0	1	0	0	0	2	4	2	1	3	5	1	1	3	5	1	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:205272902G>A	ENST00000367157.3	-	7	1689	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	521					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCAGGGAGCCGAAGGTGGTGG	0.647													7	41					0	0	0	0	A	205272902	G	A	205272902	2	1	360	1	0	0	0	0	0	0	0	1	10784	1049	37	1		1	NUAK2	1	205272902	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	1147955	205272902	43977719	23	68383											
CR2	1380	broad.mit.edu	37	chr1	207639997	207639997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcattggagaaaaaaGtctattatgcataactaaag	16	10	7	8	1	2	1	1	0	1	1	2	2	2	1	2	1	2	1	2	1	8	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:207639997G>A	ENST00000367057.3	+	2	374	c.185G>A	c.(184-186)aGt>aAt	p.S62N	CR2_ENST00000458541.2_Missense_Mutation_p.S62N|CR2_ENST00000367058.3_Missense_Mutation_p.S62N|CR2_ENST00000367059.3_Missense_Mutation_p.S62N	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	62	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGAGAAAAAAGTCTATTATGC	0.398													24	91					0	0	0	0	A	207639997	G	A	207639997	3	1	360	1	0	0	0	0	1	0	0	0	3872	1029	36	4	191	4	CR2	1	207639997	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	2367095	207639997	41610624	24	68384											
URB2	9816	broad.mit.edu	37	chr1	229770966	229770966	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgtgactgctcacctgctCcagccgtgcctggtcctgag	5	10	12	14	1	1	2	1	2	0	0	3	3	3	2	5	1	4	2	5	1	0	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:229770966C>T	ENST00000258243.2	+	4	742	c.606C>T	c.(604-606)ctC>ctT	p.L202L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	202						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTCACCTGCTCCAGCCGTGCC	0.607													8	61					0	0	0	0	T	229770966	C	T	229770966	2	4	360	1	0	0	0	0	0	0	0	1	17121	842	30	2		2	URB2	1	229770966	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	22130969	229770966	19479655	25	68385											
AHCTF1	25909	broad.mit.edu	37	chr1	247024567	247024567	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcacattttttaggtgtagTaaatacttctaatttgctat	11	19	6	5	0	1	0	0	0	1	0	1	0	1	0	0	1	3	4	0	1	7	10			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:247024567T>C	ENST00000366508.1	-	29	4007	c.3871A>G	c.(3871-3873)Act>Gct	p.T1291A	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.T1256A|AHCTF1_ENST00000326225.3_Missense_Mutation_p.T1265A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1256	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTAGGTGTAGTAAATACTTCT	0.363													9	5					0	0	0	0	C	247024567	T	C	247024567	3	2	360	1	0	0	0	0	1	0	0	0	408	1638	57	5	3066	5	AHCTF1	1	247024567	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	17253601	247024567	2226054	26	68386											
OR2T12	127064	broad.mit.edu	37	chr1	248458195	248458195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggccttcttgcgggcttctGtagagcgcatgagcagaaca	9	9	13	10	2	2	3	0	1	2	2	2	3	2	3	1	2	4	4	1	2	2	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:248458195G>T	ENST00000317996.1	-	1	685	c.686C>A	c.(685-687)aCa>aAa	p.T229K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCGGGCTTCTGTAGAGCGCAT	0.517													16	60					2.35188e-11	2.74245e-11	1	0	T	248458195	G	T	248458195	3	4	360	1	0	0	0	0	1	0	0	0	11090	1377	48	4	279	4	OR2T12	1	248458195	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	1433628	248458195	792426	27	68387											
IAH1	285148	broad.mit.edu	37	chr2	9624665	9624666	+	Frame_Shift_Ins	INS	-	-	T																															acttgacctgtggaccctgaINStgcaggacagccaggtacgg																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:9624665_9624666insT	ENST00000470914.1	+	4	527_528	c.211_212insT	c.(211-213)gcafs	p.A71fs	IAH1_ENST00000482918.1_Frame_Shift_Ins_p.A71fs|IAH1_ENST00000545602.1_Frame_Shift_Ins_p.A71fs|IAH1_ENST00000497473.1_Frame_Shift_Ins_p.A184fs|IAH1_ENST00000489468.1_3'UTR			Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	184					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGGACCCTGATGCAGGACAGC	0.515													25	34	---	---	---	---					T	9624666	-	T	9624665	7	5	360	1	0	1	1	0	0	0	0	0	7524	333	12	0	568	0	IAH1	2	9624665	Frame_Shift_Ins	INS	-	TCGA-CX-7086-01A-11D-2078-08		9624665	233574708	28	68388											
LPIN1	23175	broad.mit.edu	37	chr2	11911611	11911611	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagaggcctggaccccagCacgccagcccaagtgatcgc	10	4	12	15	2	0	2	0	2	0	1	1	4	0	3	5	2	2	1	5	2	1	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:11911611C>T	ENST00000256720.2	+	4	495	c.402C>T	c.(400-402)agC>agT	p.S134S	LPIN1_ENST00000425416.2_Silent_p.S140S|LPIN1_ENST00000396098.1_Silent_p.S140S|LPIN1_ENST00000396099.1_Silent_p.S140S|LPIN1_ENST00000449576.2_Silent_p.S183S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	134					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGGACCCCAGCACGCCAGCCC	0.572													3	24					0	0	0	0	T	11911611	C	T	11911611	2	4	360	1	0	0	0	0	0	0	0	1	8982	709	25	4		4	LPIN1	2	11911611	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	2286946	11911611	231287762	29	68389											
NRXN1	9378	broad.mit.edu	37	chr2	50318511	50318511	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtccacctgcaacgtggcaTtgccaccactcctcgtgaaa	9	9	8	15	2	0	1	0	1	0	0	3	1	2	1	5	1	3	2	5	1	2	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:50318511T>A	ENST00000404971.1	-	20	5127	c.3788A>T	c.(3787-3789)aAt>aTt	p.N1263I	NRXN1_ENST00000342183.5_Missense_Mutation_p.N188I|NRXN1_ENST00000406859.3_Missense_Mutation_p.N1223I|NRXN1_ENST00000406316.2_Missense_Mutation_p.N1223I|NRXN1_ENST00000401710.1_Missense_Mutation_p.N241I|NRXN1_ENST00000401669.2_Missense_Mutation_p.N1223I|NRXN1_ENST00000405472.3_Missense_Mutation_p.N1215I|NRXN1_ENST00000402717.3_Missense_Mutation_p.N1215I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1223	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAACGTGGCATTGCCACCACT	0.453													25	128					0	0	0	0	A	50318511	T	A	50318511	3	1	360	1	0	0	0	0	1	0	0	0	10736	1493	52	5	875	5	NRXN1	2	50318511	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	38406900	50318511	192880862	30	68390											
SPTBN1	6711	broad.mit.edu	37	chr2	54859772	54859772	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcagcaattaaaaagcaaGaggacttcatgaccaccatg	18	6	8	9	0	1	2	1	1	0	1	1	3	1	3	2	1	3	3	2	1	6	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:54859772G>C	ENST00000333896.5	+	16	3980	c.3595G>C	c.(3595-3597)Gag>Cag	p.E1199Q	SPTBN1_ENST00000356805.4_Missense_Mutation_p.E1212Q	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1212					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TAAAAAGCAAGAGGACTTCAT	0.478													6	39					0	0	0	0	C	54859772	G	C	54859772	3	2	360	1	0	0	0	0	1	0	0	0	15209	943	33	2	3809	2	SPTBN1	2	54859772	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	4541261	54859772	188339601	31	68391											
BCL11A	53335	broad.mit.edu	37	chr2	60687943	60687943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgtccagctccccgggcgGtgtggagaagcgcaaactcc	7	6	13	15	4	0	1	0	0	0	1	4	2	4	1	5	3	3	2	5	3	2	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:60687943G>A	ENST00000335712.6	-	4	2331	c.2104C>T	c.(2104-2106)Ccg>Tcg	p.P702S	BCL11A_ENST00000538214.1_Missense_Mutation_p.P668S|BCL11A_ENST00000358510.4_Missense_Mutation_p.P668S|BCL11A_ENST00000356842.4_Missense_Mutation_p.P702S|BCL11A_ENST00000537768.1_Missense_Mutation_p.P371S|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	702					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCCCCGGGCGGTGTGGAGAAG	0.652			T	IGH@	B-CLL								13	31					0	0	0	0	A	60687943	G	A	60687943	3	1	360	1	0	0	0	0	1	0	0	0	1367	1261	44	4	513	4	BCL11A	2	60687943	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	5828171	60687943	182511430	32	68392											
MBD5	55777	broad.mit.edu	37	chr2	149247498	149247498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaaaaaacagtgggacgggGagcaaagccccagaggggag	15	1	16	9	1	0	1	0	0	0	1	0	4	0	4	3	5	3	1	3	5	4	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:149247498G>A	ENST00000407073.1	+	12	4595	c.3598G>A	c.(3598-3600)Gag>Aag	p.E1200K	MBD5_ENST00000404807.1_Missense_Mutation_p.E1433K	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1200						chromosome|nucleus	chromatin binding|DNA binding	p.E1200*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTGGGACGGGGAGCAAAGCCC	0.473													5	81					0	0	0	0	A	149247498	G	A	149247498	3	1	360	1	0	0	0	0	1	0	0	0	9416	1175	41	2	3624	2	MBD5	2	149247498	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	88559555	149247498	93951875	33	68393											
TTN	7273	broad.mit.edu	37	chr2	179598082	179598082	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgagctgggcaacattgTttttaaaacttattcggtat	11	17	8	5	1	0	1	0	1	0	0	1	1	0	1	0	2	3	4	0	2	5	8			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:179598082T>A	ENST00000589042.1	-	54	16162	c.15938A>T	c.(15937-15939)aAc>aTc	p.N5313I	TTN_ENST00000591111.1_Missense_Mutation_p.N4996I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N4069I|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4996	Ig-like 33.						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)			GGCAACATTGTTTTTAAAACT	0.463													26	41					0	0	0	0	A	179598082	T	A	179598082	3	1	360	1	0	0	0	0	1	0	0	0	16831	1725	60	5	88827	5	TTN	2	179598082	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	30350584	179598082	63601291	34	68394											
TTN	7273	broad.mit.edu	37	chr2	179615732	179615732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagtctggaaaatttcttCatcaacaatagtttgaaagc	14	14	6	7	0	5	1	3	1	2	0	5	2	5	2	0	1	2	1	0	1	6	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:179615732C>T	ENST00000360870.5	-	46	11617	c.11395G>A	c.(11395-11397)Gaa>Aaa	p.E3799K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9636			S -> Y (in CMD1G).				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)			AAAATTTCTTCATCAACAATA	0.343													6	153					0	0	0	0	T	179615732	C	T	179615732	3	4	360	1	0	0	0	0	1	0	0	0	16831	835	29	2	98902	2	TTN	2	179615732	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	17650	179615732	63583641	35	68395											
FSIP2	401024	broad.mit.edu	37	chr2	186672432	186672432	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaatcagctgcagagctaTttttgtggagagctaactcc	11	11	10	9	0	1	2	1	0	0	2	2	3	2	2	1	1	6	5	1	1	3	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:186672432T>C	ENST00000343098.5	+	17	18666	c.18666T>C	c.(18664-18666)taT>taC	p.Y6222Y	FSIP2_ENST00000424728.1_Silent_p.Y6133Y	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGCAGAGCTATTTTTGTGGAG	0.393													5	93					0	0	0	0	C	186672432	T	C	186672432	2	2	360	1	0	0	0	0	0	0	0	1	6123	1500	52	5		5	FSIP2	2	186672432	Silent	SNP	T	TCGA-CX-7086-01A-11D-2078-08	7056700	186672432	56526941	36	68396											
PIKFYVE	200576	broad.mit.edu	37	chr2	209191008	209191008	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccgattatcgagccaGaggaggaagaattcagccca	12	6	13	10	2	1	2	1	0	0	2	2	6	1	4	3	3	2	1	3	3	3	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:209191008G>T	ENST00000264380.4	+	20	3631	c.3473G>T	c.(3472-3474)aGa>aTa	p.R1158I		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1158					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TATCGAGCCAGAGGAGGAAGA	0.463													8	31					0.00307968	0.00322966	1	0	T	209191008	G	T	209191008	3	4	360	1	0	0	0	0	1	0	0	0	11996	942	33	2	3558	2	PIKFYVE	2	209191008	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	22518576	209191008	34008365	37	68397											
PIKFYVE	200576	broad.mit.edu	37	chr2	209191022	209191022	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagccagaggaggaagaattCagcccaaaaattcagaccct	16	5	10	10	0	2	3	2	0	0	3	2	6	2	5	3	2	2	0	3	2	4	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:209191022C>T	ENST00000264380.4	+	20	3645	c.3487C>T	c.(3487-3489)Cag>Tag	p.Q1163*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1163					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGGAAGAATTCAGCCCAAAAA	0.478													9	31					0	0	0	0	T	209191022	C	T	209191022	4	4	360	1	0	0	0	0	0	1	0	0	11996	827	29	2	3572	2	PIKFYVE	2	209191022	Nonsense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	14	209191022	34008351	38	68398											
FARP2	9855	broad.mit.edu	37	chr2	242415337	242415337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcatccggctggagaacCtgcagaagctaacggagctg	10	8	12	11	2	1	2	1	0	1	2	3	4	2	3	2	3	5	4	2	3	3	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:242415337C>T	ENST00000264042.3	+	19	2367	c.2197C>T	c.(2197-2199)Ctg>Ttg	p.L733L		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	733					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCTGGAGAACCTGCAGAAGCT	0.557													9	26					0	0	0	0	T	242415337	C	T	242415337	2	4	360	1	0	0	0	0	0	0	0	1	5722	680	24	4		4	FARP2	2	242415337	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	33224315	242415337	784036	39	68399											
ATRIP	84126	broad.mit.edu	37	chr3	48505262	48505262	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacgaccagctggcacctCagctctgttcccactcaggt	8	8	8	17	1	3	0	2	0	1	0	4	1	4	0	4	2	2	4	4	2	0	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:48505262C>T	ENST00000412052.1	+	9	2047	c.1585C>T	c.(1585-1587)Cag>Tag	p.Q529*	ATRIP_ENST00000320211.3_Nonsense_Mutation_p.Q622*|ATRIP_ENST00000357105.6_Nonsense_Mutation_p.Q495*|ATRIP_ENST00000346691.4_Nonsense_Mutation_p.Q622*	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	622					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTGGCACCTCAGCTCTGTTC	0.627								Other conserved DNA damage response genes					5	26					0	0	0	0	T	48505262	C	T	48505262	4	4	360	1	0	0	0	0	0	1	0	0	1209	827	29	2	1898	2	ATRIP	3	48505262	Nonsense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08		48505262	149517168	40	68400											
HYAL2	8692	broad.mit.edu	37	chr3	50357479	50357479	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccggcgatacacatcttTgtcctgccagttgcgcaccc	8	10	8	15	3	1	0	0	0	1	0	2	1	2	0	4	1	4	2	4	1	2	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:50357479T>C	ENST00000447092.1	-	1	2734	c.442A>G	c.(442-444)Aaa>Gaa	p.K148E	HYAL2_ENST00000395139.3_Missense_Mutation_p.K148E|HYAL2_ENST00000357750.4_Missense_Mutation_p.K148E|HYAL2_ENST00000442581.1_Missense_Mutation_p.K148E|TUSC2_ENST00000462137.1_5'UTR			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	148						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	TACACATCTTTGTCCTGCCAG	0.572													36	15					0	0	0	0	C	50357479	T	C	50357479	3	2	360	1	0	0	0	0	1	0	0	0	7517	1821	63	5	991	5	HYAL2	3	50357479	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	1852217	50357479	147664951	41	68401											
VPRBP	9730	broad.mit.edu	37	chr3	51450829	51450829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taagtcatcttcatcatctgCctgcaacatagcttgagggg	10	12	9	10	0	5	1	3	1	2	0	5	1	5	1	1	2	4	2	1	2	3	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:51450829C>T	ENST00000335891.5	-	13	2605	c.2596G>A	c.(2596-2598)Gca>Aca	p.A866T				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1315	LisH.				interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCATCATCTGCCTGCAACATA	0.433													5	8					0	0	0	0	T	51450829	C	T	51450829	3	4	360	1	0	0	0	0	1	0	0	0	17281	739	26	4	600	4	VPRBP	3	51450829	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	1093350	51450829	146571601	42	68402											
CACNA2D3	55799	broad.mit.edu	37	chr3	54420765	54420765	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggtggaggctgcagaagaAgcacacctgaaacatgaatt	14	7	12	8	0	0	4	0	2	0	2	0	5	0	5	1	3	3	3	1	3	4	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:54420765A>T	ENST00000474759.1	+	4	393	c.345A>T	c.(343-345)gaA>gaT	p.E115D	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E115D|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E115D|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E21D	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	115						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTGCAGAAGAAGCACACCTGA	0.393													4	0					0	0	0	0	T	54420765	A	T	54420765	3	4	360	1	0	0	0	0	1	0	0	0	2575	69	3	5	359	5	CACNA2D3	3	54420765	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	2969936	54420765	143601665	43	68403											
ALCAM	214	broad.mit.edu	37	chr3	105258904	105258904	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcactcttaaatgcttaggGaatggcaaccctcccccaga	12	9	7	13	0	2	1	1	0	1	1	3	2	3	2	3	2	2	2	3	2	5	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:105258904G>A	ENST00000306107.5	+	7	1316	c.816G>A	c.(814-816)ggG>ggA	p.G272G	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Silent_p.G221G|ALCAM_ENST00000472644.2_Silent_p.G272G|ALCAM_ENST00000389927.4_Intron	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	272	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AATGCTTAGGGAATGGCAACC	0.398													21	107					0	0	0	0	A	105258904	G	A	105258904	2	1	360	1	0	0	0	0	0	0	0	1	487	1161	41	2		2	ALCAM	3	105258904	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	50838139	105258904	92763526	44	68404											
BOC	91653	broad.mit.edu	37	chr3	112968723	112968723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgcctcctcctagccaCagcaggctgctttgctgact	5	11	10	15	0	0	1	0	1	0	0	2	1	2	1	4	2	5	5	4	2	1	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:112968723C>A	ENST00000495514.1	+	3	778	c.74C>A	c.(73-75)aCa>aAa	p.T25K	BOC_ENST00000273395.4_Missense_Mutation_p.T25K|BOC_ENST00000484034.1_Missense_Mutation_p.T25K|BOC_ENST00000485230.1_Missense_Mutation_p.T25K|BOC_ENST00000355385.3_Missense_Mutation_p.T25K			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	25					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTCCTAGCCACAGCAGGCTGC	0.507													6	23					3.59834e-05	3.88717e-05	1	0	A	112968723	C	A	112968723	3	1	360	1	0	0	0	0	1	0	0	0	1486	478	17	4	76	4	BOC	3	112968723	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	7709819	112968723	85053707	45	68405											
GPR156	165829	broad.mit.edu	37	chr3	119912164	119912164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatgagagtttccattgagCtccccactaaaacatcctga	13	10	7	11	0	0	3	0	3	0	1	3	5	3	3	4	0	2	2	4	0	3	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:119912164C>T	ENST00000464295.1	-	4	786	c.341G>A	c.(340-342)aGc>aAc	p.S114N	GPR156_ENST00000461057.1_Missense_Mutation_p.S114N|GPR156_ENST00000315843.3_Missense_Mutation_p.S114N			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	114						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TTCCATTGAGCTCCCCACTAA	0.413													27	44					0	0	0	0	T	119912164	C	T	119912164	3	4	360	1	0	0	0	0	1	0	0	0	6710	797	28	4	2131	4	GPR156	3	119912164	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	6943441	119912164	78110266	46	68406											
STXBP5L	9515	broad.mit.edu	37	chr3	120998727	120998727	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactgttaagcatggggacCattgacctatatagatcaag	13	11	10	7	0	1	2	1	1	0	1	1	3	1	3	2	2	2	3	2	2	6	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:120998727C>T	ENST00000273666.6	+	19	2305	c.2034C>T	c.(2032-2034)acC>acT	p.T678T	STXBP5L_ENST00000497029.1_Silent_p.T678T|STXBP5L_ENST00000471454.1_Silent_p.T678T|STXBP5L_ENST00000472879.1_Silent_p.T678T|STXBP5L_ENST00000492541.1_Silent_p.T678T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	678					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCATGGGGACCATTGACCTAT	0.398													42	55					0	0	0	0	T	120998727	C	T	120998727	2	4	360	1	0	0	0	0	0	0	0	1	15447	581	21	4		4	STXBP5L	3	120998727	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	1086563	120998727	77023703	47	68407											
CASR	846	broad.mit.edu	37	chr3	122003858	122003858	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttactcccgctgcagtgcggGgaaacggacttagatctgac	9	9	12	11	3	1	2	0	1	1	1	2	4	2	4	1	3	4	2	1	3	3	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:122003858G>A	ENST00000498619.1	+	7	3525	c.3087G>A	c.(3085-3087)ggG>ggA	p.G1029G	CASR_ENST00000296154.5_Silent_p.G1019G|CASR_ENST00000490131.1_Silent_p.G1019G	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1019					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGCAGTGCGGGGAAACGGACT	0.602													13	58					0	0	0	0	A	122003858	G	A	122003858	2	1	360	1	0	0	0	0	0	0	0	1	2707	1219	43	4		4	CASR	3	122003858	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	1005131	122003858	76018572	48	68408											
SEMA5B	54437	broad.mit.edu	37	chr3	122629889	122629889	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaagtggatgagattgAaccctaggggaagagaggca	14	5	14	8	0	0	3	0	2	0	2	0	7	0	5	3	4	1	1	3	4	4	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:122629889A>T	ENST00000195173.4	-	22	3523	c.3220T>A	c.(3220-3222)Tca>Aca	p.S1074T	SEMA5B_ENST00000451055.2_Missense_Mutation_p.F1086Y|SEMA5B_ENST00000357599.3_Missense_Mutation_p.F1032Y			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	0					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GATGAGATTGAACCCTAGGGG	0.587													11	14					0	0	0	0	T	122629889	A	T	122629889	3	4	360	1	0	0	0	0	1	0	0	0	14125	246	9	5	368	5	SEMA5B	3	122629889	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	626031	122629889	75392541	49	68409											
KALRN	8997	broad.mit.edu	37	chr3	124413262	124413262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgcaaagtctgtgggCggccaaagcccaccatcact	10	7	11	13	1	2	0	1	0	1	0	2	0	2	0	3	2	3	2	3	2	2	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:124413262C>T	ENST00000360013.3	+	53	7616	c.7489C>T	c.(7489-7491)Cgg>Tgg	p.R2497W	KALRN_ENST00000428018.2_Missense_Mutation_p.R768W|KALRN_ENST00000291478.4_Missense_Mutation_p.R800W	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2496	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGTCTGTGGGCGGCCAAAGCC	0.527													42	58					0	0	0	0	T	124413262	C	T	124413262	3	4	360	1	0	0	0	0	1	0	0	0	8028	759	27	1	7855	1	KALRN	3	124413262	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	1783373	124413262	73609168	50	68410											
PLXND1	23129	broad.mit.edu	37	chr3	129293182	129293182	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgggcatgcttaccgcGtggatctcgggggcggggca	5	7	17	12	4	1	0	0	0	1	0	2	1	1	1	2	6	2	3	2	6	1	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:129293182G>A	ENST00000393239.1	-	12	2860	c.2682C>T	c.(2680-2682)caC>caT	p.H894H	PLXND1_ENST00000324093.4_Silent_p.H894H			Q9Y4D7	PLXD1_HUMAN	plexin D1	894	IPT/TIG 1.		H -> R (in dbSNP:rs2625962).		axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGCTTACCGCGTGGATCTCGG	0.701													3	11					0	0	0	0	A	129293182	G	A	129293182	2	1	360	1	0	0	0	0	0	0	0	1	12199	1136	40	1		1	PLXND1	3	129293182	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	4879920	129293182	68729248	51	68411											
COL6A6	131873	broad.mit.edu	37	chr3	130289961	130289961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcagaccacatgttcactGaagcccggggcagccgcctg	8	7	11	15	2	2	2	2	1	1	1	3	2	2	2	4	2	2	2	4	2	1	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:130289961G>A	ENST00000358511.6	+	6	2732	c.2701G>A	c.(2701-2703)Gaa>Aaa	p.E901K	COL6A6_ENST00000453409.2_Missense_Mutation_p.E901K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	901	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CATGTTCACTGAAGCCCGGGG	0.532													10	18					0	0	0	0	A	130289961	G	A	130289961	3	1	360	1	0	0	0	0	1	0	0	0	3733	1291	45	2	2723	2	COL6A6	3	130289961	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	996779	130289961	67732469	52	68412											
ASTE1	28990	broad.mit.edu	37	chr3	130743229	130743229	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtaccacactggaagaagtCctgtagcttcacctgggact	11	9	10	11	0	1	1	1	0	0	1	2	3	2	3	3	2	2	3	3	2	4	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:130743229C>G	ENST00000264992.3	-	3	1363	c.922G>C	c.(922-924)Gac>Cac	p.D308H	ASTE1_ENST00000514044.1_Missense_Mutation_p.D308H	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	308					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TGGAAGAAGTCCTGTAGCTTC	0.423													7	79					0	0	0	0	G	130743229	C	G	130743229	3	3	360	1	0	0	0	0	1	0	0	0	1066	855	30	2	1133	2	ASTE1	3	130743229	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	453268	130743229	67279201	53	68413											
PLSCR4	57088	broad.mit.edu	37	chr3	145917612	145917612	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgacctcttgtctggcAgaggggcaacagaagcaaca	11	8	11	11	0	3	3	0	1	3	2	4	3	3	3	1	3	3	3	1	3	3	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:145917612A>G	ENST00000354952.2	-	6	852	c.612T>C	c.(610-612)tcT>tcC	p.S204S	PLSCR4_ENST00000493382.1_Silent_p.S204S|PLSCR4_ENST00000446574.2_Silent_p.S204S|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000433593.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	204					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CTTGTCTGGCAGAGGGGCAAC	0.502													6	17					0	0	0	0	G	145917612	A	G	145917612	2	3	360	1	0	0	0	0	0	0	0	1	12184	175	7	5		5	PLSCR4	3	145917612	Silent	SNP	A	TCGA-CX-7086-01A-11D-2078-08	15174383	145917612	52104818	54	68414											
IFT80	57560	broad.mit.edu	37	chr3	160095241	160095241	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taactaatgctgttccttcaTaattccatcttcctgcaagt	10	16	4	11	0	2	0	1	0	1	0	5	0	5	0	3	0	3	3	3	0	4	7			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:160095241T>C	ENST00000326448.7	-	4	779	c.347A>G	c.(346-348)tAt>tGt	p.Y116C	IFT80_ENST00000477495.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|IFT80_ENST00000483465.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	116						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGTTCCTTCATAATTCCATCT	0.308													10	61					0	0	0	0	C	160095241	T	C	160095241	3	2	360	1	0	0	0	0	1	0	0	0	7617	1406	49	5	2054	5	IFT80	3	160095241	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	14177629	160095241	37927189	55	68415											
PEX5L	51555	broad.mit.edu	37	chr3	179525537	179525537	+	Missense_Mutation	SNP	G	G	T																															atcctggctgaatctccagtGctcgcgtataggcctccacg																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:179525537G>T	ENST00000467460.1	-	14	1931	c.1601C>A	c.(1600-1602)gCa>gAa	p.A534E	PEX5L_ENST00000392649.3_Missense_Mutation_p.A426E|PEX5L_ENST00000263962.8_Missense_Mutation_p.A532E|PEX5L_ENST00000468741.1_Missense_Mutation_p.A342E|PEX5L_ENST00000464614.1_Missense_Mutation_p.A426E|PEX5L_ENST00000485199.1_Missense_Mutation_p.A499E|PEX5L_ENST00000476138.1_Missense_Mutation_p.A491E|PEX5L_ENST00000472994.1_Missense_Mutation_p.A475E|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.A510E	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	534					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AATCTCCAGTGCTCGCGTATA	0.552													63	108					7.82978e-24	9.47198e-24	1	0	T	179525537	G	T	179525537	3	4	360	1	0	0	0	0	1	0	0	0	11821	1319	46	4	287	4	PEX5L	3	179525537	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	19430296	179525537	18496893	56	68416	832	2									
PEX5L	51555	broad.mit.edu	37	chr3	179525538	179525538	+	Missense_Mutation	SNP	C	C	T																															tcctggctgaatctccagtgCtcgcgtataggcctccacgg																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:179525538C>T	ENST00000467460.1	-	14	1930	c.1600G>A	c.(1600-1602)Gca>Aca	p.A534T	PEX5L_ENST00000392649.3_Missense_Mutation_p.A426T|PEX5L_ENST00000263962.8_Missense_Mutation_p.A532T|PEX5L_ENST00000468741.1_Missense_Mutation_p.A342T|PEX5L_ENST00000464614.1_Missense_Mutation_p.A426T|PEX5L_ENST00000485199.1_Missense_Mutation_p.A499T|PEX5L_ENST00000476138.1_Missense_Mutation_p.A491T|PEX5L_ENST00000472994.1_Missense_Mutation_p.A475T|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.A510T	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	534					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATCTCCAGTGCTCGCGTATAG	0.557													62	105					0	0	0	0	T	179525538	C	T	179525538	3	4	360	1	0	0	0	0	1	0	0	0	11821	797	28	4	288	4	PEX5L	3	179525538	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	1	179525538	18496892	57	68417	832	2									
PARL	55486	broad.mit.edu	37	chr3	183560190	183560190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgctgccatgtgaaataagGagaaatgactgaatgttgac	14	11	11	5	0	0	5	0	4	0	1	0	6	0	5	1	1	2	2	1	1	4	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:183560190G>A	ENST00000317096.4	-	6	713	c.653C>T	c.(652-654)tCc>tTc	p.S218F	PARL_ENST00000435888.1_Intron|PARL_ENST00000311101.5_Intron	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	218					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTGAAATAAGGAGAAATGACT	0.398													21	87					0	0	0	0	A	183560190	G	A	183560190	3	1	360	1	0	0	0	0	1	0	0	0	11522	1174	41	2	506	2	PARL	3	183560190	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	4034652	183560190	14462240	58	68418											
ABCC5	10057	broad.mit.edu	37	chr3	183703150	183703150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcattctgaccgcagaataCagccatcctgaaaattctaa	14	10	5	12	1	3	3	1	2	2	1	4	3	4	3	3	0	2	1	3	0	5	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:183703150C>T	ENST00000382494.2	-	6	722	c.608G>A	c.(607-609)tGt>tAt	p.C203Y	ABCC5_ENST00000392579.2_Intron|ABCC5_ENST00000427120.2_3'UTR|ABCC5_ENST00000334444.6_Intron|ABCC5_ENST00000265586.6_Intron	NM_001023587.1	NP_001018881.1	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	0	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGCAGAATACAGCCATCCTG	0.488													18	131					0	0	0	0	T	183703150	C	T	183703150	3	4	360	1	0	0	0	0	1	0	0	0	56	478	17	4	3845	4	ABCC5	3	183703150	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	142960	183703150	14319280	59	68419											
VPS8	23355	broad.mit.edu	37	chr3	184567769	184567769	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaacttctaagatcaataAcagatgctcatcctccagga	16	9	6	10	0	3	2	2	0	1	2	5	4	5	3	2	1	3	1	2	1	5	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:184567769A>G	ENST00000287546.4	+	9	883	c.712A>G	c.(712-714)Aca>Gca	p.T238A	VPS8_ENST00000446204.2_Missense_Mutation_p.T236A|VPS8_ENST00000437079.3_Missense_Mutation_p.T238A|VPS8_ENST00000436792.2_Missense_Mutation_p.T236A	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	238							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AAGATCAATAACAGATGCTCA	0.313													8	46					0	0	0	0	G	184567769	A	G	184567769	3	3	360	1	0	0	0	0	1	0	0	0	17314	43	2	5	742	5	VPS8	3	184567769	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	864619	184567769	13454661	60	68420											
HTT	3064	broad.mit.edu	37	chr4	3225795	3225795	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtttcaaagagagagaatAttgccacccatcatttatat	14	13	7	7	0	2	2	2	0	0	2	2	4	2	2	2	1	1	1	2	1	5	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:3225795A>G	ENST00000355072.5	+	56	7847	c.7702A>G	c.(7702-7704)Att>Gtt	p.I2568V		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2568					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAGAGAGAATATTGCCACCCA	0.468													22	82					0	0	0	0	G	3225795	A	G	3225795	3	3	360	1	0	0	0	0	1	0	0	0	7510	449	16	5	7924	5	HTT	4	3225795	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08		3225795	187928481	61	68421											
STIM2	57620	broad.mit.edu	37	chr4	27004653	27004653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaggaggaggcttgtcGgctgagagagctaagggagg	11	6	19	5	1	0	2	0	1	0	1	1	6	0	5	0	6	2	4	0	6	2	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:27004653G>A	ENST00000382009.3	+	7	1436	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	STIM2_ENST00000467011.1_Missense_Mutation_p.R303Q|STIM2_ENST00000467087.1_Missense_Mutation_p.R303Q|STIM2_ENST00000465503.1_Missense_Mutation_p.R303Q|STIM2_ENST00000412829.2_Missense_Mutation_p.R390Q|STIM2_ENST00000237364.5_Missense_Mutation_p.R390Q	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	303					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GAGGCTTGTCGGCTGAGAGAG	0.388													13	28					0	0	0	0	A	27004653	G	A	27004653	3	1	360	1	0	0	0	0	1	0	0	0	15374	1116	39	1	934	1	STIM2	4	27004653	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	23778858	27004653	164149623	62	68422											
COMMD8	54951	broad.mit.edu	37	chr4	47458656	47458656	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaactatttctcttgacaGagcctgtttgatttcatctt	9	17	6	9	0	3	3	1	2	2	1	4	3	3	3	1	0	3	2	1	0	2	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:47458656G>C	ENST00000381571.4	-	3	380	c.313C>G	c.(313-315)Ctg>Gtg	p.L105V		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	105							protein binding			large_intestine(2)|lung(5)|prostate(1)	8						TCTCTTGACAGAGCCTGTTTG	0.328													19	82					0	0	0	0	C	47458656	G	C	47458656	3	2	360	1	0	0	0	0	1	0	0	0	3752	933	33	2	250	2	COMMD8	4	47458656	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	20454003	47458656	143695620	63	68423											
SLC10A4	201780	broad.mit.edu	37	chr4	48487038	48487038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcttggatcaacacccCtatcgtgcagttactacccc	8	10	8	15	1	1	0	1	0	0	0	2	1	1	1	4	2	4	3	4	2	4	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:48487038C>A	ENST00000273861.4	+	2	899	c.680C>A	c.(679-681)cCt>cAt	p.P227H		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	227						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						ATCAACACCCCTATCGTGCAG	0.552													62	126					6.26901e-30	7.61237e-30	1	0	A	48487038	C	A	48487038	3	1	360	1	0	0	0	0	1	0	0	0	14464	681	24	4	686	4	SLC10A4	4	48487038	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	1028382	48487038	142667238	64	68424											
LRRC66	339977	broad.mit.edu	37	chr4	52861475	52861475	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctaattcattggaatcAtaacggcttgagccagagac	12	10	11	8	1	3	2	2	1	1	1	3	4	3	3	1	3	2	1	1	3	3	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:52861475A>G	ENST00000343457.3	-	4	1719	c.1713T>C	c.(1711-1713)taT>taC	p.Y571Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	571						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CATTGGAATCATAACGGCTTG	0.498													23	92					0	0	0	0	G	52861475	A	G	52861475	2	3	360	1	0	0	0	0	0	0	0	1	9082	224	8	5		5	LRRC66	4	52861475	Silent	SNP	A	TCGA-CX-7086-01A-11D-2078-08	4374437	52861475	138292801	65	68425											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69344584	69344584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggttacagtcaaaatcatCttcgacaagcacaggtgact	14	10	8	9	1	3	1	2	1	1	0	4	2	3	1	0	2	2	2	0	2	5	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:69344584C>T	ENST00000305363.4	+	9	1049	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	329	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TCAAAATCATCTTCGACAAGC	0.343													27	93					0	0	0	0	T	69344584	C	T	69344584	3	4	360	1	0	0	0	0	1	0	0	0	16336	913	32	2	1019	2	TMPRSS11E	4	69344584	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	16483109	69344584	121809692	66	68426											
SCARB2	950	broad.mit.edu	37	chr4	77116980	77116980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcagagggggcttctcccagGagtcaaatgcctcagtacca	10	7	12	12	0	3	1	2	0	1	1	4	2	3	2	3	3	2	3	3	3	2	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:77116980G>A	ENST00000264896.2	-	2	504	c.155C>T	c.(154-156)tCc>tTc	p.S52F	SCARB2_ENST00000452464.2_Missense_Mutation_p.S52F	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	52					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CTTCTCCCAGGAGTCAAATGC	0.438													25	35					0	0	0	0	A	77116980	G	A	77116980	3	1	360	1	0	0	0	0	1	0	0	0	13968	1174	41	2	1325	2	SCARB2	4	77116980	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	7772396	77116980	114037296	67	68427											
CCDC158	339965	broad.mit.edu	37	chr4	77300534	77300534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagctgacgcatatacataGagttttggtttcttgcttgc	8	16	10	7	1	1	3	0	2	1	1	1	3	1	3	0	1	4	5	0	1	3	8			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:77300534G>A	ENST00000388914.3	-	8	1090	c.938C>T	c.(937-939)tCt>tTt	p.S313F	CCDC158_ENST00000434846.2_Missense_Mutation_p.S313F	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	313										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CATATACATAGAGTTTTGGTT	0.383													10	41					0	0	0	0	A	77300534	G	A	77300534	3	1	360	1	0	0	0	0	1	0	0	0	2816	942	33	2	2471	2	CCDC158	4	77300534	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	183554	77300534	113853742	68	68428											
CCNG2	901	broad.mit.edu	37	chr4	78081922	78081922	+	Missense_Mutation	SNP	G	G	T																															gagtctgttcttttttgctgGctgctagaatagttgaagaa																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:78081922G>T	ENST00000316355.5	+	4	681	c.325G>T	c.(325-327)Gct>Tct	p.A109S	CCNG2_ENST00000354403.5_Missense_Mutation_p.A109S|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_Missense_Mutation_p.A109S|CCNG2_ENST00000395640.1_Missense_Mutation_p.A109S|CCNG2_ENST00000509972.1_Missense_Mutation_p.A109S	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	109					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTTTGCTGGCTGCTAGAAT	0.388													41	78					9.39024e-22	1.11921e-21	1	0	T	78081922	G	T	78081922	3	4	360	1	0	0	0	0	1	0	0	0	2953	1203	42	4	335	4	CCNG2	4	78081922	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	781388	78081922	113072354	69	68429	833	2									
CCNG2	901	broad.mit.edu	37	chr4	78081923	78081923	+	Missense_Mutation	SNP	C	C	T																															agtctgttcttttttgctggCtgctagaatagttgaagaag																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:78081923C>T	ENST00000316355.5	+	4	682	c.326C>T	c.(325-327)gCt>gTt	p.A109V	CCNG2_ENST00000354403.5_Missense_Mutation_p.A109V|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_Missense_Mutation_p.A109V|CCNG2_ENST00000395640.1_Missense_Mutation_p.A109V|CCNG2_ENST00000509972.1_Missense_Mutation_p.A109V	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	109					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTTGCTGGCTGCTAGAATA	0.383													40	78					0	0	0	0	T	78081923	C	T	78081923	3	4	360	1	0	0	0	0	1	0	0	0	2953	797	28	4	336	4	CCNG2	4	78081923	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	1	78081923	113072353	70	68430	833	2									
TACR3	6870	broad.mit.edu	37	chr4	104640669	104640669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcagtcccagcgcggaaGgggaggaggagaggttgcca	10	3	19	9	2	0	1	0	0	0	1	1	5	1	4	2	7	2	2	2	7	1	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:104640669G>A	ENST00000304883.2	-	1	304	c.164C>T	c.(163-165)cCt>cTt	p.P55L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	55						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CAGCGCGGAAGGGGAGGAGGA	0.697													7	36					0	0	0	0	A	104640669	G	A	104640669	3	1	360	1	0	0	0	0	1	0	0	0	15598	1000	35	4	1253	4	TACR3	4	104640669	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	26558746	104640669	86513607	71	68431											
TET2	54790	broad.mit.edu	37	chr4	106157411	106157411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcaacaatgatcagcaaaGagaaggatcattctttggcc	16	8	9	8	0	3	2	2	1	1	1	3	4	3	3	1	2	3	2	1	2	5	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:106157411G>A	ENST00000540549.1	+	3	3172	c.2312G>A	c.(2311-2313)aGa>aAa	p.R771K	TET2_ENST00000545826.1_Missense_Mutation_p.R771K|TET2_ENST00000394764.1_Missense_Mutation_p.R771K|TET2_ENST00000413648.2_Missense_Mutation_p.R771K|TET2_ENST00000305737.2_Missense_Mutation_p.R771K|TET2_ENST00000380013.4_Missense_Mutation_p.R771K|TET2_ENST00000513237.1_Missense_Mutation_p.R792K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	771	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GATCAGCAAAGAGAAGGATCA	0.383			"Mis N, F"		MDS								3	44					0	0	0	0	A	106157411	G	A	106157411	3	1	360	1	0	0	0	0	1	0	0	0	15864	942	33	2	2314	2	TET2	4	106157411	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	1516742	106157411	84996865	72	68432											
TIGD4	201798	broad.mit.edu	37	chr4	153691231	153691231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacatttggaagataaacatGatggaaagaatgctaactca	18	10	8	5	0	1	3	1	1	0	2	1	5	1	5	0	2	4	1	0	2	7	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:153691231G>A	ENST00000304337.2	-	2	1746	c.926C>T	c.(925-927)tCa>tTa	p.S309L		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	309	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AGATAAACATGATGGAAAGAA	0.343													6	46					0	0	0	0	A	153691231	G	A	153691231	3	1	360	1	0	0	0	0	1	0	0	0	15992	1294	45	2	616	2	TIGD4	4	153691231	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	47533820	153691231	37463045	73	68433											
FGG	2266	broad.mit.edu	37	chr4	155528082	155528082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgaagtaggcatatgttaGgcggtacttgtcagcttcag	10	11	13	7	2	2	0	2	0	0	0	2	1	2	0	0	3	3	5	0	3	5	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:155528082G>T	ENST00000404648.3	-	8	1143	c.904C>A	c.(904-906)Cta>Ata	p.L302I	FGG_ENST00000407946.1_Missense_Mutation_p.L310I|FGG_ENST00000336098.3_Missense_Mutation_p.L302I|FGG_ENST00000405164.1_Missense_Mutation_p.L310I	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	302	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCATATGTTAGGCGGTACTTG	0.478													9	55					1.76689e-08	2.01663e-08	1	0	T	155528082	G	T	155528082	3	4	360	1	0	0	0	0	1	0	0	0	5915	991	35	4	484	4	FGG	4	155528082	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	1836851	155528082	35626194	74	68434											
MARCH11	441061	broad.mit.edu	37	chr5	16177895	16177895	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctataacagcaaagttcacaGgtccaggaacctctctcact	13	9	6	13	0	3	0	2	0	1	0	5	1	4	1	2	2	3	2	2	2	4	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:16177895G>T	ENST00000332432.8	-	2	832	c.633C>A	c.(631-633)acC>acA	p.T211T	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	211						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AAAGTTCACAGGTCCAGGAAC	0.408													7	42					2.0095e-06	2.21525e-06	1	0	T	16177895	G	T	16177895	2	4	360	1	0	0	0	0	0	0	0	1	9369	987	35	4		4	MARCH11	5	16177895	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08		16177895	164737365	75	68435											
CDH18	1016	broad.mit.edu	37	chr5	19747278	19747278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcgtcaatgataaatataGtcccagcaccctctccagta	13	11	5	12	1	2	1	1	1	1	0	5	1	3	1	3	0	1	2	3	0	7	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:19747278G>A	ENST00000507958.1	-	6	1286	c.296C>T	c.(295-297)aCt>aTt	p.T99I	CDH18_ENST00000274170.4_Missense_Mutation_p.T99I|CDH18_ENST00000511273.1_Missense_Mutation_p.T99I|CDH18_ENST00000502796.1_Missense_Mutation_p.T99I|CDH18_ENST00000382275.1_Missense_Mutation_p.T99I|CDH18_ENST00000506372.1_Missense_Mutation_p.T99I			Q13634	CAD18_HUMAN	cadherin 18, type 2	99	Cadherin 1.				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)					GATAAATATAGTCCCAGCACC	0.418													41	51					0	0	0	0	A	19747278	G	A	19747278	3	1	360	1	0	0	0	0	1	0	0	0	3132	1029	36	4	2116	4	CDH18	5	19747278	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	3569383	19747278	161167982	76	68436											
PDZD2	23037	broad.mit.edu	37	chr5	32089442	32089443	+	Frame_Shift_Ins	INS	-	-	TCGT																															gtgctggaaagcaagccaccINStcttgccacctctgggccac																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:32089442_32089443insTCGT	ENST00000438447.1	+	20	6276_6277	c.5888_5889insTCGT	c.(5887-5889)cctfs	p.P1963fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.P1963fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1963					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGCAAGCCACCTCTTGCCACCT	0.604													27	93	---	---	---	---					TCGT	32089443	-	TCGT	32089442	7	5	360	1	0	1	1	0	0	0	0	0	11772	681	24	0	5962	0	PDZD2	5	32089442	Frame_Shift_Ins	INS	-	TCGA-CX-7086-01A-11D-2078-08	12342164	32089442	148825818	77	68437											
C6	729	broad.mit.edu	37	chr5	41153999	41153999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccagcaacaacaaagcCtttggggcaagttagctcaa	13	7	10	11	0	1	0	1	0	0	0	1	0	1	0	2	3	5	4	2	3	6	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:41153999C>T	ENST00000263413.3	-	15	2467	c.2203G>A	c.(2203-2205)Ggc>Agc	p.G735S	C6_ENST00000337836.5_Missense_Mutation_p.G735S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	735	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACAACAAAGCCTTTGGGGCAA	0.473													12	45					0	0	0	0	T	41153999	C	T	41153999	3	4	360	1	0	0	0	0	1	0	0	0	2336	681	24	4	617	4	C6	5	41153999	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	9064557	41153999	139761261	78	68438											
FGF10	2255	broad.mit.edu	37	chr5	44305279	44305279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctccttcagcttacagtCattgttaaattctttctgca	8	17	4	12	0	5	0	2	0	3	0	6	0	5	0	2	0	3	3	2	0	3	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:44305279C>T	ENST00000264664.4	-	3	559	c.445G>A	c.(445-447)Gac>Aac	p.D149N		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	149					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCTTACAGTCATTGTTAAAT	0.378													12	86					0	0	0	0	T	44305279	C	T	44305279	3	4	360	1	0	0	0	0	1	0	0	0	5884	826	29	2	185	2	FGF10	5	44305279	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	3151280	44305279	136609981	79	68439											
EMB	133418	broad.mit.edu	37	chr5	49706781	49706781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaataacttcccatttgtttGctattaatgatggtgaacct	11	16	7	7	0	0	2	0	2	0	0	1	3	1	2	2	1	3	2	2	1	5	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:49706781G>A	ENST00000303221.5	-	4	617	c.402C>T	c.(400-402)agC>agT	p.S134S	EMB_ENST00000508934.1_Silent_p.S80S|EMB_ENST00000514111.1_Silent_p.S84S|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	134	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CCATTTGTTTGCTATTAATGA	0.284													5	18					0	0	0	0	A	49706781	G	A	49706781	2	1	360	1	0	0	0	0	0	0	0	1	5123	1310	46	4		4	EMB	5	49706781	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	5401502	49706781	131208479	80	68440											
HTR1A	3350	broad.mit.edu	37	chr5	63256935	63256935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcagcagcgggatgtaGaaagctccaaaggtggaata	15	6	14	6	1	0	2	0	1	0	1	1	4	1	4	1	3	4	4	1	3	5	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:63256935G>T	ENST00000323865.3	-	1	845	c.612C>A	c.(610-612)ttC>ttA	p.F204L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	204					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCGGGATGTAGAAAGCTCCAA	0.582													27	66					7.76418e-22	9.28826e-22	1	0	T	63256935	G	T	63256935	3	4	360	1	0	0	0	0	1	0	0	0	7489	933	33	2	659	2	HTR1A	5	63256935	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	13550154	63256935	117658325	81	68441											
SLCO4C1	353189	broad.mit.edu	37	chr5	101572684	101572684	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttatacaaaaagattgcaaAtccattgaagaacatggtga	18	11	7	5	0	0	4	0	2	0	2	1	4	1	4	1	1	3	1	1	1	7	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:101572684A>G	ENST00000310954.6	-	13	2339	c.2053T>C	c.(2053-2055)Ttt>Ctt	p.F685L		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	685					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAGATTGCAAATCCATTGAAG	0.308													13	10					0	0	0	0	G	101572684	A	G	101572684	3	3	360	1	0	0	0	0	1	0	0	0	14818	101	4	5	125	5	SLCO4C1	5	101572684	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	38315749	101572684	79342576	82	68442											
COMMD10	51397	broad.mit.edu	37	chr5	115628170	115628170	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagactatacaagcacagcTggattcccttacatgatgtt	13	11	8	9	0	0	2	0	1	0	1	1	4	1	3	1	1	4	3	1	1	4	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:115628170T>C	ENST00000274458.4	+	7	655	c.593T>C	c.(592-594)cTg>cCg	p.L198P	COMMD10_ENST00000503424.1_3'UTR|COMMD10_ENST00000515539.1_Missense_Mutation_p.L184P	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	198	COMM.						protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		CAAGCACAGCTGGATTCCCTT	0.373													20	33					0	0	0	0	C	115628170	T	C	115628170	3	2	360	1	0	0	0	0	1	0	0	0	3745	1580	55	5	619	5	COMMD10	5	115628170	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	14055486	115628170	65287090	83	68443											
GABRB2	2561	broad.mit.edu	37	chr5	160758096	160758096	+	Missense_Mutation	SNP	G	G	T																															agggagagtttcccggaggtGggtgttgattgtggtcattg																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:160758096G>T	ENST00000274547.2	-	9	1088	c.871C>A	c.(871-873)Cac>Aac	p.H291N	GABRB2_ENST00000517547.1_Missense_Mutation_p.H131N|GABRB2_ENST00000393959.1_Missense_Mutation_p.H291N|GABRB2_ENST00000520240.1_Missense_Mutation_p.H291N|GABRB2_ENST00000517901.1_Missense_Mutation_p.H228N|GABRB2_ENST00000353437.6_Missense_Mutation_p.H291N	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	291					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCCGGAGGTGGGTGTTGATT	0.423													14	61					1.05317e-09	1.21058e-09	1	0	T	160758096	G	T	160758096	3	4	360	1	0	0	0	0	1	0	0	0	6215	1348	47	4	679	4	GABRB2	5	160758096	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	45129926	160758096	20157164	84	68444	834	2									
GABRB2	2561	broad.mit.edu	37	chr5	160758097	160758097	+	Silent	SNP	G	G	A																															gggagagtttcccggaggtgGgtgttgattgtggtcattgt																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:160758097G>A	ENST00000274547.2	-	9	1087	c.870C>T	c.(868-870)acC>acT	p.T290T	GABRB2_ENST00000517547.1_Silent_p.T130T|GABRB2_ENST00000393959.1_Silent_p.T290T|GABRB2_ENST00000520240.1_Silent_p.T290T|GABRB2_ENST00000517901.1_Silent_p.T227T|GABRB2_ENST00000353437.6_Silent_p.T290T	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	290					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCCGGAGGTGGGTGTTGATTG	0.423													14	61					0	0	0	0	A	160758097	G	A	160758097	2	1	360	1	0	0	0	0	0	0	0	1	6215	1219	43	4		4	GABRB2	5	160758097	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	1	160758097	20157163	85	68445	834	2									
FAM193B	54540	broad.mit.edu	37	chr5	176951848	176951848	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggagcttgtaacgtgTggttctgaggggagcccaaa	8	9	15	9	2	1	1	0	1	1	0	1	3	1	3	2	4	3	3	2	4	2	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:176951848T>A	ENST00000329540.5	-	9	3341	c.512A>T	c.(511-513)cAc>cTc	p.H171L	FAM193B_ENST00000514747.1_Missense_Mutation_p.H545L|FAM193B_ENST00000443375.2_Missense_Mutation_p.H512L			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	221										kidney(1)|large_intestine(3)	4						TTGTAACGTGTGGTTCTGAGG	0.617													7	2					0	0	0	0	A	176951848	T	A	176951848	3	1	360	1	0	0	0	0	1	0	0	0	5568	1696	59	5	846	5	FAM193B	5	176951848	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	16193751	176951848	3963412	86	68446											
SNRNP48	154007	broad.mit.edu	37	chr6	7601613	7601613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttcctttgaatcacaaaCggtttgtttgtgatctaact	11	16	7	7	1	2	2	1	2	1	0	3	2	3	2	1	1	2	3	1	1	4	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:7601613C>T	ENST00000342415.5	+	5	510	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	151					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAATCACAAACGGTTTGTTTG	0.328													17	54					0	0	0	0	T	7601613	C	T	7601613	3	4	360	1	0	0	0	0	1	0	0	0	14945	527	19	1	469	1	SNRNP48	6	7601613	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08		7601613	163513454	87	68447											
GCNT2	2651	broad.mit.edu	37	chr6	10557098	10557098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattaagctgcttcccaaacGcttttctggcttccaagatg	9	14	7	11	1	1	1	0	0	1	1	3	1	3	1	2	1	3	4	2	1	4	6	rs56336237		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:10557098G>A	ENST00000316170.3	+	1	859	c.442G>A	c.(442-444)Gct>Act	p.A148T	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	150						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTTCCCAAACGCTTTTCTGGC	0.453													19	65					0	0	0	0	A	10557098	G	A	10557098	3	1	360	1	0	0	0	0	1	0	0	0	6350	1087	38	1	1373	1	GCNT2	6	10557098	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	2955485	10557098	160557969	88	68448											
DNAH8	1769	broad.mit.edu	37	chr6	38819387	38819387	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactgtttccaagattcttCtttgtatctgatccagttct	7	20	5	9	0	4	2	0	1	4	1	6	2	6	2	2	0	1	3	2	0	3	7			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:38819387C>T	ENST00000359357.3	+	37	5006	c.4752C>T	c.(4750-4752)ttC>ttT	p.F1584F	DNAH8_ENST00000441566.1_Silent_p.F1584F|DNAH8_ENST00000449981.2_Silent_p.F1801F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAGATTCTTCTTTGTATCTG	0.353													6	34					0	0	0	0	T	38819387	C	T	38819387	2	4	360	1	0	0	0	0	0	0	0	1	4643	912	32	2		2	DNAH8	6	38819387	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	28262289	38819387	132295680	89	68449											
TREML1	340205	broad.mit.edu	37	chr6	41119090	41119090	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagaatgcgttctcagccaGactgccaatcttatgggtct	9	12	10	10	1	3	2	1	1	3	2	4	3	3	2	2	1	3	1	2	1	3	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:41119090G>C	ENST00000373127.4	-	3	457	c.409C>G	c.(409-411)Ctg>Gtg	p.L137V	TREML1_ENST00000437044.2_Missense_Mutation_p.L26V|TREML1_ENST00000426005.2_Missense_Mutation_p.L137V	NM_001271807.1	NP_001258736.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	137					calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTCTCAGCCAGACTGCCAATC	0.517													16	52					0	0	0	0	C	41119090	G	C	41119090	3	2	360	1	0	0	0	0	1	0	0	0	16567	933	33	2	540	2	TREML1	6	41119090	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	2299703	41119090	129995977	90	68450											
PRPH2	5961	broad.mit.edu	37	chr6	42666201	42666202	+	Frame_Shift_Ins	INS	-	-	T																															cctcggggttggacacaccaINStccagcgacgtctgtaggta																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:42666201_42666202insT	ENST00000230381.5	-	3	1111_1112	c.872_873insA	c.(871-873)gggfs	p.G291fs		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	291					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGGACACACCATCCAGCGACGT	0.589													10	41	---	---	---	---					T	42666202	-	T	42666201	7	5	360	1	0	1	1	0	0	0	0	0	12657	214	8	0	171	0	PRPH2	6	42666201	Frame_Shift_Ins	INS	-	TCGA-CX-7086-01A-11D-2078-08	1547111	42666201	128448866	91	68451											
CD109	135228	broad.mit.edu	37	chr6	74477802	74477802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatccaggggacagttggtgGctgtaggaaaacaaaattca	14	9	12	6	0	1	0	1	0	0	0	2	2	2	2	1	5	1	3	1	5	6	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:74477802G>T	ENST00000437994.2	+	14	1953	c.1522G>T	c.(1522-1524)Gct>Tct	p.A508S	CD109_ENST00000287097.5_Missense_Mutation_p.A508S|CD109_ENST00000422508.2_Missense_Mutation_p.A431S	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	508						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.A508T(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAGTTGGTGGCTGTAGGAAA	0.363													17	38					2.23348e-06	2.45379e-06	1	0	T	74477802	G	T	74477802	3	4	360	1	0	0	0	0	1	0	0	0	2992	1203	42	4	1576	4	CD109	6	74477802	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	31811601	74477802	96637265	92	68452											
BVES	11149	broad.mit.edu	37	chr6	105573428	105573428	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaacaatcgccggtacatgCcactgagttccttttcaatc	11	11	6	13	2	1	1	1	1	0	0	4	1	2	1	3	1	3	2	3	1	4	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:105573428C>G	ENST00000314641.5	-	4	593	c.377G>C	c.(376-378)gGc>gCc	p.G126A	BVES_ENST00000446408.2_Missense_Mutation_p.G126A|BVES_ENST00000336775.5_Missense_Mutation_p.G126A	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	126					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CCGGTACATGCCACTGAGTTC	0.438													13	67					0	0	0	0	G	105573428	C	G	105573428	3	3	360	1	0	0	0	0	1	0	0	0	1584	739	26	4	725	4	BVES	6	105573428	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	31095626	105573428	65541639	93	68453											
RFX6	222546	broad.mit.edu	37	chr6	117248219	117248219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttcacagattgctggtCatctgatgacaccacccatt	10	12	7	12	0	3	3	2	2	1	1	3	3	3	3	2	1	2	2	2	1	0	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:117248219C>A	ENST00000332958.2	+	17	1931	c.1915C>A	c.(1915-1917)Cat>Aat	p.H639N		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	639					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GATTGCTGGTCATCTGATGAC	0.453													19	55					1.2644e-06	1.40345e-06	1	0	A	117248219	C	A	117248219	3	1	360	1	0	0	0	0	1	0	0	0	13349	826	29	2	1981	2	RFX6	6	117248219	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	11674791	117248219	53866848	94	68454											
C6orf58	352999	broad.mit.edu	37	chr6	127899855	127899855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attagctgatccaacccgaaGgacaaactgtggctatgaat	14	9	9	9	1	0	2	0	2	0	0	1	4	1	3	2	2	3	2	2	2	6	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:127899855G>A	ENST00000329722.7	+	2	338	c.326G>A	c.(325-327)aGg>aAg	p.R109K		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	109						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CCAACCCGAAGGACAAACTGT	0.418													53	64					0	0	0	0	A	127899855	G	A	127899855	3	1	360	1	0	0	0	0	1	0	0	0	2389	1000	35	4	332	4	C6orf58	6	127899855	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	10651636	127899855	43215212	95	68455											
LAMA2	3908	broad.mit.edu	37	chr6	129621886	129621886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttataccggtgaagcttgtGaatgttctcatctgggtaat	9	15	10	7	1	2	2	1	2	2	0	3	2	2	2	1	2	2	3	1	2	5	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:129621886G>A	ENST00000421865.2	+	22	3092	c.3043G>A	c.(3043-3045)Gaa>Aaa	p.E1015K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1015	Laminin EGF-like 11.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAAGCTTGTGAATGTTCTCA	0.378													30	35					0	0	0	0	A	129621886	G	A	129621886	3	1	360	1	0	0	0	0	1	0	0	0	8659	1291	45	2	3129	2	LAMA2	6	129621886	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	1722031	129621886	41493181	96	68456											
ARHGAP18	93663	broad.mit.edu	37	chr6	129950552	129950552	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttctccttggagctctcTttctgattgagtgcttgctc	4	19	8	10	0	3	2	0	2	3	0	6	3	3	3	1	1	3	3	1	1	0	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:129950552T>C	ENST00000368149.2	-	5	820	c.732A>G	c.(730-732)aaA>aaG	p.K244K		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	244					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TGGAGCTCTCTTTCTGATTGA	0.438													20	72					0	0	0	0	C	129950552	T	C	129950552	2	2	360	1	0	0	0	0	0	0	0	1	870	1606	56	5		5	ARHGAP18	6	129950552	Silent	SNP	T	TCGA-CX-7086-01A-11D-2078-08	328666	129950552	41164515	97	68457											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959657	129959657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcttctgaactgctgctGcctgggtccgcgtcaatgtt	4	13	11	13	3	2	1	1	1	1	0	4	1	3	1	2	1	4	4	2	1	2	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:129959657G>T	ENST00000368149.2	-	3	522	c.434C>A	c.(433-435)gCa>gAa	p.A145E		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	145					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AACTGCTGCTGCCTGGGTCCG	0.478													25	72					5.35047e-06	5.85831e-06	1	0	T	129959657	G	T	129959657	3	4	360	1	0	0	0	0	1	0	0	0	870	1319	46	4	1609	4	ARHGAP18	6	129959657	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	9105	129959657	41155410	98	68458											
SLC35D3	340146	broad.mit.edu	37	chr6	137243715	137243715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgcagtgcctgaccagctCcaccgcggcgctgagcctgg	5	6	15	15	3	0	2	0	2	0	0	1	2	1	2	5	3	4	3	5	3	0	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:137243715C>T	ENST00000331858.4	+	1	314	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	50					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CTGACCAGCTCCACCGCGGCG	0.687													12	12					0	0	0	0	T	137243715	C	T	137243715	3	4	360	1	0	0	0	0	1	0	0	0	14671	855	30	2	151	2	SLC35D3	6	137243715	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	7284058	137243715	33871352	99	68459											
GRM1	2911	broad.mit.edu	37	chr6	146755040	146755040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgtcatggtctgaacCaggtggaggacaggtgccca	8	9	15	9	0	3	1	1	1	2	0	3	3	3	3	2	5	2	0	2	5	1	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:146755040C>T	ENST00000361719.2	+	9	3163	c.2693C>T	c.(2692-2694)cCa>cTa	p.P898L	GRM1_ENST00000507907.1_Intron|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_Intron|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P898L	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	898					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGGTCTGAACCAGGTGGAGGA	0.458													4	32					0	0	0	0	T	146755040	C	T	146755040	3	4	360	1	0	0	0	0	1	0	0	0	6846	594	21	4	2788	4	GRM1	6	146755040	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	9511325	146755040	24360027	100	68460											
TAB2	23118	broad.mit.edu	37	chr6	149700391	149700391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgagcaataggcaataactCtgcaacctctcctcgagtgg	11	9	9	12	2	2	0	0	0	2	0	5	2	2	0	2	2	4	3	2	2	5	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:149700391C>T	ENST00000367456.1	+	4	1917	c.1340C>T	c.(1339-1341)tCt>tTt	p.S447F	TAB2_ENST00000286332.5_Missense_Mutation_p.S447F|TAB2_ENST00000538427.1_Missense_Mutation_p.S447F|TAB2_ENST00000536230.1_Missense_Mutation_p.S415F|TAB2_ENST00000392282.1_Missense_Mutation_p.S447F			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	447					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GGCAATAACTCTGCAACCTCT	0.502													22	60					0	0	0	0	T	149700391	C	T	149700391	3	4	360	1	0	0	0	0	1	0	0	0	15587	913	32	2	1346	2	TAB2	6	149700391	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	2945351	149700391	21414676	101	68461											
UNC93A	54346	broad.mit.edu	37	chr6	167728907	167728907	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccaggacaggtcaaccaGgcagaggatgaagaaataca	16	4	12	9	0	1	3	1	1	0	2	2	5	2	5	2	4	2	2	2	4	4	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:167728907G>A	ENST00000230256.3	+	8	1516	c.1341G>A	c.(1339-1341)caG>caA	p.Q447Q	UNC93A_ENST00000366829.2_Silent_p.Q405Q	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	447						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGGTCAACCAGGCAGAGGATG	0.532													38	61					0	0	0	0	A	167728907	G	A	167728907	2	1	360	1	0	0	0	0	0	0	0	1	17092	991	35	4		4	UNC93A	6	167728907	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	18028516	167728907	3386160	102	68462											
RADIL	55698	broad.mit.edu	37	chr7	4862158	4862158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaccagatcagccatggcGcagctggccagcgagatggg	10	4	16	11	2	1	2	1	0	0	2	1	4	1	3	3	4	4	2	3	4	1	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:4862158G>A	ENST00000399583.3	-	6	1669	c.1482C>T	c.(1480-1482)tgC>tgT	p.C494C	RADIL_ENST00000538469.1_Silent_p.C254C|RADIL_ENST00000536091.1_Intron	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	494					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CAGCCATGGCGCAGCTGGCCA	0.532													18	28					0	0	0	0	A	4862158	G	A	4862158	2	1	360	1	0	0	0	0	0	0	0	1	13079	1079	38	1		1	RADIL	7	4862158	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08		4862158	154276505	103	68463											
ANLN	54443	broad.mit.edu	37	chr7	36459826	36459826	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaagacaccagcagaagtGatgaaagtccaaaaccagga	19	4	10	8	0	0	5	0	3	0	2	1	6	1	6	3	1	2	1	3	1	5	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:36459826G>C	ENST00000265748.2	+	11	2139	c.1918G>C	c.(1918-1920)Gat>Cat	p.D640H	ANLN_ENST00000396068.2_Missense_Mutation_p.D603H	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	640	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGCAGAAGTGATGAAAGTCC	0.403													7	57					0	0	0	0	C	36459826	G	C	36459826	3	2	360	1	0	0	0	0	1	0	0	0	693	1290	45	2	1960	2	ANLN	7	36459826	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	31597668	36459826	122678837	104	68464											
HUS1	3364	broad.mit.edu	37	chr7	48007409	48007409	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagcacactcactgcataAggcctttgtgggatttactt	11	12	9	9	0	1	1	1	0	0	1	1	2	1	2	1	2	3	2	1	2	3	5	rs79656108		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:48007409A>C	ENST00000258774.5	-	7	777	c.754T>G	c.(754-756)Tta>Gta	p.L252V	HUS1_ENST00000432325.1_Missense_Mutation_p.L231V	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	252					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TCACTGCATAAGGCCTTTGTG	0.388								Direct reversal of damage;Other conserved DNA damage response genes					23	40					0	0	0	0	C	48007409	A	C	48007409	3	2	360	1	0	0	0	0	1	0	0	0	7512	69	3	5	96	5	HUS1	7	48007409	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	11547583	48007409	111131254	105	68465											
ABCA13	154664	broad.mit.edu	37	chr7	48313389	48313389	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggatgttacgtattctaGacacgttaaattccacattt	13	14	7	7	2	1	2	0	0	1	2	2	3	2	3	1	1	1	3	1	1	5	7			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:48313389G>C	ENST00000435803.1	+	17	4150	c.4126G>C	c.(4126-4128)Gac>Cac	p.D1376H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1376					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						ACGTATTCTAGACACGTTAAA	0.328													6	15					0	0	0	0	C	48313389	G	C	48313389	3	2	360	1	0	0	0	0	1	0	0	0	31	942	33	2	4021	2	ABCA13	7	48313389	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	305980	48313389	110825274	106	68466											
GRB10	2887	broad.mit.edu	37	chr7	50663143	50663143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatacttacaggtaagatCtggaaatttttaattttctg	13	17	6	5	0	3	1	1	0	2	1	3	2	3	2	0	2	2	1	0	2	6	8			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:50663143C>A	ENST00000403097.1	-	17	2391	c.1611G>T	c.(1609-1611)caG>caT	p.Q537H	GRB10_ENST00000357271.5_Missense_Mutation_p.Q497H|GRB10_ENST00000402497.1_Missense_Mutation_p.Q485H|GRB10_ENST00000335866.3_Missense_Mutation_p.Q485H|GRB10_ENST00000407526.1_Missense_Mutation_p.Q485H|GRB10_ENST00000401949.1_Missense_Mutation_p.Q543H|GRB10_ENST00000398810.2_Missense_Mutation_p.Q485H|GRB10_ENST00000402578.1_Missense_Mutation_p.Q485H|GRB10_ENST00000439599.1_Missense_Mutation_p.Q537H|GRB10_ENST00000406641.1_Missense_Mutation_p.Q485H|GRB10_ENST00000398812.2_Missense_Mutation_p.Q543H			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	543	SH2.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CAGGTAAGATCTGGAAATTTT	0.398									Russell-Silver syndrome				56	99					2.31391e-43	2.83103e-43	1	0	A	50663143	C	A	50663143	3	1	360	1	0	0	0	0	1	0	0	0	6806	912	32	2	163	2	GRB10	7	50663143	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	2349754	50663143	108475520	107	68467											
PEX1	5189	broad.mit.edu	37	chr7	92120800	92120800	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagacttaggtcactatcaGagctggaacttccatcctaa	13	10	7	11	0	2	2	2	0	0	2	4	3	4	3	2	2	2	1	2	2	4	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:92120800G>C	ENST00000248633.4	-	21	3319	c.3224C>G	c.(3223-3225)tCt>tGt	p.S1075C	PEX1_ENST00000438045.1_Missense_Mutation_p.S753C|PEX1_ENST00000428214.1_Missense_Mutation_p.S1018C|AC007566.10_ENST00000427458.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1075					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GTCACTATCAGAGCTGGAACT	0.373													16	63					0	0	0	0	C	92120800	G	C	92120800	3	2	360	1	0	0	0	0	1	0	0	0	11807	942	33	2	643	2	PEX1	7	92120800	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	41457657	92120800	67017863	108	68468											
CALCR	799	broad.mit.edu	37	chr7	93073008	93073008	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagatcccttcacagagcAtccagaaatagttgcaggcc	13	8	9	11	0	1	3	1	0	0	3	3	4	3	3	3	1	2	3	3	1	3	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:93073008A>G	ENST00000359558.2	-	11	1111	c.812T>C	c.(811-813)aTg>aCg	p.M271T	CALCR_ENST00000394441.1_Missense_Mutation_p.M237T|CALCR_ENST00000360249.4_Missense_Mutation_p.M253T|CALCR_ENST00000426151.1_Missense_Mutation_p.M237T|CALCR_ENST00000421592.1_Missense_Mutation_p.M253T	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	253					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTCACAGAGCATCCAGAAATA	0.443													27	71					0	0	0	0	G	93073008	A	G	93073008	3	3	360	1	0	0	0	0	1	0	0	0	2604	217	8	5	738	5	CALCR	7	93073008	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	952208	93073008	66065655	109	68469											
MDFIC	29969	broad.mit.edu	37	chr7	114619638	114619638	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaataggcaagataaagaacGgccacacaggtctgagcaat	18	5	10	8	1	1	3	0	1	1	2	1	3	1	3	1	3	2	2	1	3	7	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:114619638G>C	ENST00000257724.3	+	4	885	c.622G>C	c.(622-624)Ggc>Cgc	p.G208R	MDFIC_ENST00000393486.1_Missense_Mutation_p.G99R			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	99	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GATAAAGAACGGCCACACAGG	0.473													16	20					0	0	0	0	C	114619638	G	C	114619638	3	2	360	1	0	0	0	0	1	0	0	0	9474	1116	39	3	678	3	MDFIC	7	114619638	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	21546630	114619638	44519025	110	68470											
ING3	54556	broad.mit.edu	37	chr7	120590962	120590962	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggccgcgatgttgtacctAgaagactatctggaaagtga	12	9	13	7	2	1	3	0	1	1	2	1	5	1	4	2	2	1	2	2	2	5	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:120590962A>G	ENST00000315870.5	+	1	160	c.12A>G	c.(10-12)ctA>ctG	p.L4L	ING3_ENST00000445699.1_Silent_p.L4L|ING3_ENST00000339121.5_Silent_p.L4L	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	4					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					TGTTGTACCTAGAAGACTATC	0.632													25	74					0	0	0	0	G	120590962	A	G	120590962	2	3	360	1	0	0	0	0	0	0	0	1	7790	407	15	5		5	ING3	7	120590962	Silent	SNP	A	TCGA-CX-7086-01A-11D-2078-08	5971324	120590962	38547701	111	68471											
MKLN1	4289	broad.mit.edu	37	chr7	131122674	131122674	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaagtgacttctatcgttAtgacattgatacaaacacat	16	12	6	7	1	1	3	0	3	1	0	2	4	1	3	0	0	2	1	0	0	6	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:131122674A>T	ENST00000352689.6	+	10	1131	c.1091A>T	c.(1090-1092)tAt>tTt	p.Y364F	MKLN1_ENST00000421797.2_Missense_Mutation_p.Y272F	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	364					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TTCTATCGTTATGACATTGAT	0.413													56	75					0	0	0	0	T	131122674	A	T	131122674	3	4	360	1	0	0	0	0	1	0	0	0	9672	449	16	5	1162	5	MKLN1	7	131122674	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	10531712	131122674	28015989	112	68472											
PLXNA4	91584	broad.mit.edu	37	chr7	131870132	131870132	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgaaagaccaggtcctggtgGatcttggccctgtccacctg	7	10	12	12	0	1	2	0	1	1	1	3	3	3	3	5	4	0	0	5	4	1	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:131870132G>C	ENST00000359827.3	-	16	4046	c.3084C>G	c.(3082-3084)atC>atG	p.I1028M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.I1028M			Q9HCM2	PLXA4_HUMAN	plexin A4	1028	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane		p.I1028M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTCCTGGTGGATCTTGGCCC	0.557													8	45					0	0	0	0	C	131870132	G	C	131870132	3	2	360	1	0	0	0	0	1	0	0	0	12194	1164	41	2	2668	2	PLXNA4	7	131870132	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	747458	131870132	27268531	113	68473											
MGAM	8972	broad.mit.edu	37	chr7	141767192	141767192	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacagtcagttcctgctgggCccagccttcctggtcagccc	5	9	11	16	0	2	0	2	0	0	0	4	1	4	0	5	2	3	2	5	2	0	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:141767192C>T	ENST00000475668.2	+	42	5025	c.4971C>T	c.(4969-4971)ggC>ggT	p.G1657G	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1657	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTGCTGGGCCCAGCCTTCC	0.597													6	31					0	0	0	0	T	141767192	C	T	141767192	2	4	360	1	0	0	0	0	0	0	0	1	9610	754	26	4		4	MGAM	7	141767192	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	9897060	141767192	17371471	114	68474											
GIMAP1	170575	broad.mit.edu	37	chr7	150417901	150417901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgtggaagtggctgaagtCccccaggagctggaggctgg	7	7	18	9	0	0	1	0	1	0	0	1	4	1	4	2	6	1	4	2	6	2	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:150417901C>T	ENST00000307194.5	+	3	949	c.809C>T	c.(808-810)tCc>tTc	p.S270F		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCTGAAGTCCCCCAGGAGC	0.741													5	4					0	0	0	0	T	150417901	C	T	150417901	3	4	360	1	0	0	0	0	1	0	0	0	6430	855	30	2	815	2	GIMAP1	7	150417901	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	8650709	150417901	8720762	115	68475											
ZNF596	169270	broad.mit.edu	37	chr8	195664	195664	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagacgacatgagatgattCacactagagaaaaagcacag	18	7	9	7	1	1	4	1	2	0	3	1	7	1	4	0	0	1	1	0	0	4	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:195664C>A	ENST00000398612.1	+	6	1200	c.817C>A	c.(817-819)Cac>Aac	p.H273N	ZNF596_ENST00000320552.2_Missense_Mutation_p.H203N|ZNF596_ENST00000308811.4_Missense_Mutation_p.H273N	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TGAGATGATTCACACTAGAGA	0.408													8	59					0.000274275	0.000290462	1	0	A	195664	C	A	195664	3	1	360	1	0	0	0	0	1	0	0	0	18121	826	29	2	835	2	ZNF596	8	195664	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08		195664	146168358	116	68476											
CSMD1	64478	broad.mit.edu	37	chr8	2886928	2886928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccttctaagtagtaaccagGactgcagctcagcaatactt	12	10	8	11	0	2	0	1	0	1	0	2	1	2	1	2	1	5	5	2	1	5	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:2886928G>T	ENST00000602557.1	-	52	8326	c.7771C>A	c.(7771-7773)Cct>Act	p.P2591T	CSMD1_ENST00000537824.1_Missense_Mutation_p.P2590T|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2591T|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2590T|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2591T|CSMD1_ENST00000520002.1_Missense_Mutation_p.P2591T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2591	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAGTAACCAGGACTGCAGCTC	0.532													6	12					0.00198382	0.00208721	1	0	T	2886928	G	T	2886928	3	4	360	1	0	0	0	0	1	0	0	0	3976	1174	41	2	3006	2	CSMD1	8	2886928	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	2691264	2886928	143477094	117	68477											
RP1	6101	broad.mit.edu	37	chr8	55542523	55542523	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaaagaaatttcaaccagaTttgaaggaaaggttttgtat	16	14	8	3	0	1	3	1	1	0	2	1	4	1	4	1	2	1	2	1	2	7	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:55542523T>A	ENST00000220676.1	+	4	6229	c.6081T>A	c.(6079-6081)gaT>gaA	p.D2027E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2027					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCAACCAGATTTGAAGGAAA	0.338													26	119					0	0	0	0	A	55542523	T	A	55542523	3	1	360	1	0	0	0	0	1	0	0	0	13617	1490	52	5	6091	5	RP1	8	55542523	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	52655595	55542523	90821499	118	68478											
XKR4	114786	broad.mit.edu	37	chr8	56436490	56436490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggtccatctccaacaacCgcagtgttgtcagcgaccgc	9	8	9	15	4	2	0	1	0	1	0	4	1	3	0	4	1	4	2	4	1	3	2	rs145363139		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:56436490C>T	ENST00000327381.5	+	3	1757	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	553						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTCCAACAACCGCAGTGTTGT	0.587													30	73					0	0	0	0	T	56436490	C	T	56436490	3	4	360	1	0	0	0	0	1	0	0	0	17529	652	23	1	1667	1	XKR4	8	56436490	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	893967	56436490	89927532	119	68479											
TGS1	96764	broad.mit.edu	37	chr8	56717593	56717593	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttgccttaacaggaatgaGaggtaattagccatcaatgg	13	11	11	6	0	1	1	1	1	0	1	1	3	1	2	2	3	3	2	2	3	5	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:56717593G>C	ENST00000260129.5	+	10	2618	c.2141G>C	c.(2140-2142)aGa>aCa	p.R714T		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	714	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ACAGGAATGAGAGGTAATTAG	0.378													15	73					0	0	0	0	C	56717593	G	C	56717593	3	2	360	1	0	0	0	0	1	0	0	0	15931	942	33	2	2179	2	TGS1	8	56717593	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	281103	56717593	89646429	120	68480											
ASPH	444	broad.mit.edu	37	chr8	62555450	62555450	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagcatttgcaaaccttGttcctcatagacttggtatg	12	13	8	8	0	1	2	1	0	0	2	2	2	2	2	2	1	3	4	2	1	4	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:62555450G>A	ENST00000541428.1	-	10	860	c.700C>T	c.(700-702)Caa>Taa	p.Q234*	ASPH_ENST00000517847.2_Nonsense_Mutation_p.Q249*|ASPH_ENST00000379454.4_Nonsense_Mutation_p.Q263*|ASPH_ENST00000445642.3_Nonsense_Mutation_p.Q249*|ASPH_ENST00000522919.1_Nonsense_Mutation_p.Q76*|ASPH_ENST00000518068.1_Nonsense_Mutation_p.Q220*|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000356457.5_Nonsense_Mutation_p.Q263*|ASPH_ENST00000517903.1_Nonsense_Mutation_p.Q249*|ASPH_ENST00000522835.1_Nonsense_Mutation_p.Q206*	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	263	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGCAAACCTTGTTCCTCATAG	0.328													7	6					0	0	0	0	A	62555450	G	A	62555450	4	1	360	1	0	0	0	0	0	1	0	0	1057	1386	48	4	1565	4	ASPH	8	62555450	Nonsense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	5837857	62555450	83808572	121	68481											
CYP7B1	9420	broad.mit.edu	37	chr8	65528763	65528763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataatttattagaaaatactCgaaagcttaattgtttatga	17	16	5	3	1	0	2	0	1	0	1	1	3	0	2	0	0	2	2	0	0	9	9			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:65528763C>T	ENST00000310193.3	-	3	508	c.335G>A	c.(334-336)cGa>cAa	p.R112Q		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	112					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGAAAATACTCGAAAGCTTAA	0.313													3	36					0	0	0	0	T	65528763	C	T	65528763	3	4	360	1	0	0	0	0	1	0	0	0	4229	884	31	1	1201	1	CYP7B1	8	65528763	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	2973313	65528763	80835259	122	68482											
ENY2	56943	broad.mit.edu	37	chr8	110355642	110355642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgtttttcagccctggtaCctgacagtgtaaagaaggag	10	13	11	7	0	1	2	1	1	0	1	1	3	1	3	2	2	2	3	2	2	4	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:110355642C>T	ENST00000521688.1	+	5	383	c.238C>T	c.(238-240)Cct>Tct	p.P80S	ENY2_ENST00000521662.1_Missense_Mutation_p.P75S|ENY2_ENST00000520147.1_3'UTR|ENY2_ENST00000522407.1_3'UTR	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog (Drosophila)	80					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			AGCCCTGGTACCTGACAGTGT	0.343													49	53					0	0	0	0	T	110355642	C	T	110355642	3	4	360	1	0	0	0	0	1	0	0	0	5184	507	18	4	256	4	ENY2	8	110355642	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	44826879	110355642	36008380	123	68483											
COL14A1	7373	broad.mit.edu	37	chr8	121222116	121222116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttatgctcctctaacagaGggcctggctggggatgaaaa	10	10	12	9	0	1	2	0	1	1	1	2	3	2	3	2	4	2	2	2	4	4	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:121222116G>A	ENST00000297848.3	+	12	1713	c.1443G>A	c.(1441-1443)gaG>gaA	p.E481E	COL14A1_ENST00000537875.1_Silent_p.E481E|COL14A1_ENST00000247781.3_Silent_p.E386E|COL14A1_ENST00000309791.4_Silent_p.E481E|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	481	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTCTAACAGAGGGCCTGGCTG	0.413													18	49					0	0	0	0	A	121222116	G	A	121222116	2	1	360	1	0	0	0	0	0	0	0	1	3701	991	35	4		4	COL14A1	8	121222116	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	10866474	121222116	25141906	124	68484											
COL14A1	7373	broad.mit.edu	37	chr8	121292244	121292244	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagcattggcagtaagccCagcgcacgccatgtcttctt	8	11	10	12	2	2	0	0	0	2	0	2	0	2	0	2	1	3	5	2	1	2	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:121292244C>T	ENST00000297848.3	+	29	3822	c.3552C>T	c.(3550-3552)ccC>ccT	p.P1184P	COL14A1_ENST00000247781.3_Silent_p.P1089P|COL14A1_ENST00000309791.4_Silent_p.P1184P	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1184	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCAGTAAGCCCAGCGCACGCC	0.443													5	62					0	0	0	0	T	121292244	C	T	121292244	2	4	360	1	0	0	0	0	0	0	0	1	3701	581	21	4		4	COL14A1	8	121292244	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	70128	121292244	25071778	125	68485											
FBXO32	114907	broad.mit.edu	37	chr8	124526525	124526525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatgaagttcttttgggCgatgccactcagggatgtga	9	13	12	7	1	3	2	2	2	1	0	3	4	3	3	1	2	1	1	1	2	1	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:124526525C>T	ENST00000517956.1	-	5	612	c.421G>A	c.(421-423)Gcc>Acc	p.A141T	FBXO32_ENST00000443022.2_Intron	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	141										autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCTTTTGGGCGATGCCACTC	0.448													4	31					0	0	0	0	T	124526525	C	T	124526525	3	4	360	1	0	0	0	0	1	0	0	0	5787	768	27	1	666	1	FBXO32	8	124526525	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	3234281	124526525	21837497	126	68486											
FAM135B	51059	broad.mit.edu	37	chr8	139263195	139263195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggtgcagaccattccggGggtggaagtgcaggccaagc	8	6	18	9	1	0	1	0	0	0	1	1	2	1	2	3	6	3	2	3	6	2	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:139263195G>A	ENST00000395297.1	-	6	601	c.431C>T	c.(430-432)cCc>cTc	p.P144L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	144										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCATTCCGGGGGTGGAAGTG	0.597										HNSCC(54;0.14)			12	134					0	0	0	0	A	139263195	G	A	139263195	3	1	360	1	0	0	0	0	1	0	0	0	5490	1232	43	4	3849	4	FAM135B	8	139263195	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	14736670	139263195	7100827	127	68487											
EPPK1	83481	broad.mit.edu	37	chr8	144946383	144946383	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagctctgggctgaccaGgcccgccctgactgcctcgt	5	8	13	15	2	1	2	0	2	1	0	2	3	1	3	4	3	2	2	4	3	0	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:144946383G>A	ENST00000525985.1	-	2	1110	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L				P58107	EPIPL_HUMAN	epiplakin 1	347						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCTGACCAGGCCCGCCCTG	0.682													24	15					0	0	0	0	A	144946383	G	A	144946383	2	1	360	1	0	0	0	0	0	0	0	1	5228	991	35	4		4	EPPK1	8	144946383	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	5683188	144946383	1417639	128	68488											
PLEC	5339	broad.mit.edu	37	chr8	144991527	144991527	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttgcggtaggcctcgtaCactgacatctccttgcccgt	5	11	9	16	3	1	1	0	1	1	0	3	1	1	1	4	2	3	2	4	2	2	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:144991527C>G	ENST00000322810.4	-	32	13042	c.12873G>C	c.(12871-12873)gtG>gtC	p.V4291V	PLEC_ENST00000356346.3_Silent_p.V4140V|PLEC_ENST00000354958.2_Silent_p.V4132V|PLEC_ENST00000527096.1_Silent_p.V4177V|PLEC_ENST00000354589.3_Silent_p.V4154V|PLEC_ENST00000345136.3_Silent_p.V4154V|PLEC_ENST00000398774.2_Silent_p.V4122V|PLEC_ENST00000357649.2_Silent_p.V4158V|PLEC_ENST00000436759.2_Silent_p.V4181V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4291	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGCCTCGTACACTGACATCT	0.622													6	72					0	0	0	0	G	144991527	C	G	144991527	2	3	360	1	0	0	0	0	0	0	0	1	12124	465	17	4		4	PLEC	8	144991527	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	45144	144991527	1372495	129	68489											
SPATC1	375686	broad.mit.edu	37	chr8	145096194	145096194	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccttccagctggaccgcagGatcctgtccagcatcttccc	6	9	9	17	1	1	0	0	0	1	0	5	2	5	2	6	2	2	3	6	2	0	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:145096194G>A	ENST00000377470.3	+	4	1470	c.1368G>A	c.(1366-1368)agG>agA	p.R456R	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	456										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACCGCAGGATCCTGTCCA	0.622													7	30					0	0	0	0	A	145096194	G	A	145096194	2	1	360	1	0	0	0	0	0	0	0	1	15107	1165	41	2		2	SPATC1	8	145096194	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	104667	145096194	1267828	130	68490											
ZNF251	90987	broad.mit.edu	37	chr8	145948557	145948557	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggtagcttctgttaaaactCtcttgtgaatattgggtttg	8	17	10	6	1	2	1	0	1	2	0	3	1	2	1	0	2	2	4	0	2	5	7			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:145948557C>G	ENST00000292562.7	-	5	763	c.488G>C	c.(487-489)aGa>aCa	p.R163T	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGTTAAAACTCTCTTGTGAAT	0.478													26	87					0	0	0	0	G	145948557	C	G	145948557	3	3	360	1	0	0	0	0	1	0	0	0	17891	913	32	2	1531	2	ZNF251	8	145948557	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	852363	145948557	415465	131	68491											
BNC2	54796	broad.mit.edu	37	chr9	16419593	16419593	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgacgagtccaggcccatGtcatcgagttctttggtcaa	8	11	11	11	3	3	0	2	0	1	0	5	3	4	0	2	2	1	1	2	2	1	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:16419593G>A	ENST00000380672.4	-	7	2751	c.2694C>T	c.(2692-2694)gaC>gaT	p.D898D	BNC2_ENST00000545497.1_Silent_p.D803D|BNC2_ENST00000380667.2_Silent_p.D831D	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CCAGGCCCATGTCATCGAGTT	0.542													42	14					0	0	0	0	A	16419593	G	A	16419593	2	1	360	1	0	0	0	0	0	0	0	1	1480	1368	48	4		4	BNC2	9	16419593	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08		16419593	124793838	132	68492											
SLC24A2	25769	broad.mit.edu	37	chr9	19786060	19786060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaaaataagctgttaagaGaagcaagctttcccaccaca	17	7	7	10	0	0	1	0	0	0	1	1	2	1	1	2	0	3	5	2	0	6	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:19786060G>A	ENST00000341998.2	-	1	866	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F	SLC24A2_ENST00000286344.3_Missense_Mutation_p.L269F	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	269					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GCTGTTAAGAGAAGCAAGCTT	0.393													14	39					0	0	0	0	A	19786060	G	A	19786060	3	1	360	1	0	0	0	0	1	0	0	0	14554	942	33	2	1220	2	SLC24A2	9	19786060	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	3366467	19786060	121427371	133	68493											
IFT74	80173	broad.mit.edu	37	chr9	27056421	27056421	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacatagagtatgaggcactAaaaacacaattgcaagaaaa	22	6	7	6	0	0	3	0	1	0	2	0	3	0	3	0	1	3	3	0	1	10	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:27056421A>G	ENST00000443698.1	+	18	1758	c.1587A>G	c.(1585-1587)ctA>ctG	p.L529L	IFT74_ENST00000380062.5_Silent_p.L529L|IFT74_ENST00000433700.1_Silent_p.L529L	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	529						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		ATGAGGCACTAAAAACACAAT	0.308													21	27					0	0	0	0	G	27056421	A	G	27056421	2	3	360	1	0	0	0	0	0	0	0	1	7616	349	13	5		5	IFT74	9	27056421	Silent	SNP	A	TCGA-CX-7086-01A-11D-2078-08	7270361	27056421	114157010	134	68494											
NUDT2	318	broad.mit.edu	37	chr9	34339067	34339067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagcatgtggcttgatcatCttccgaagatgcctcattcc	9	12	9	11	1	3	3	2	1	1	2	5	4	5	3	3	1	2	2	3	1	1	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:34339067C>G	ENST00000379158.2	+	4	388	c.30C>G	c.(28-30)atC>atG	p.I10M	NUDT2_ENST00000346365.4_Missense_Mutation_p.I10M|NUDT2_ENST00000379155.5_Missense_Mutation_p.I10M	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	10	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	p.I10M(1)		lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCTTGATCATCTTCCGAAGAT	0.428													14	41					0	0	0	0	G	34339067	C	G	34339067	3	3	360	1	0	0	0	0	1	0	0	0	10808	903	32	2	32	2	NUDT2	9	34339067	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	7282646	34339067	106874364	135	68495											
DIRAS2	54769	broad.mit.edu	37	chr9	93375945	93375945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcggtgatctgcaatgtGcatatgctcttgtcacagct	7	14	11	9	1	3	1	1	1	2	0	4	1	3	1	0	1	4	4	0	1	2	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:93375945G>A	ENST00000375765.3	-	2	553	c.165C>T	c.(163-165)tgC>tgT	p.C55C		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	55					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TCTGCAATGTGCATATGCTCT	0.567													73	23					0	0	0	0	A	93375945	G	A	93375945	2	1	360	1	0	0	0	0	0	0	0	1	4568	1311	46	4		4	DIRAS2	9	93375945	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	59036878	93375945	47837486	136	68496											
ZNF462	58499	broad.mit.edu	37	chr9	109734354	109734354	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagtcagctgccctggcaAggaacaacagccgtgttagc	11	7	11	12	1	2	0	2	0	0	0	2	1	2	1	2	2	6	3	2	2	4	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:109734354A>T	ENST00000277225.5	+	8	6785	c.6496A>T	c.(6496-6498)Agg>Tgg	p.R2166W	ZNF462_ENST00000457913.1_Missense_Mutation_p.R2226W|ZNF462_ENST00000441147.2_Missense_Mutation_p.R1072W|ZNF462_ENST00000542028.1_Missense_Mutation_p.R123W			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2166					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGCCCTGGCAAGGAACAACAG	0.527													48	15					0	0	0	0	T	109734354	A	T	109734354	3	4	360	1	0	0	0	0	1	0	0	0	18021	63	3	5	6522	5	ZNF462	9	109734354	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	16358409	109734354	31479077	137	68497											
MUSK	4593	broad.mit.edu	37	chr9	113538912	113538912	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatcctttccccttcagAttataacaaagaaaacctaa	15	14	2	10	0	1	2	1	0	0	2	3	2	3	2	4	0	2	0	4	0	7	7			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:113538912A>C	ENST00000374448.4	+	11	1495	c.1360_splice	c.e11-1	p.D454_splice	MUSK_ENST00000374438.1_Intron|MUSK_ENST00000416899.2_Intron|MUSK_ENST00000189978.5_Splice_Site_p.D454_splice	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	454					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCCCCTTCAGATTATAACAAA	0.338													18	56					0	0	0	0	C	113538912	A	C	113538912	5	2	360	1	0	0	0	0	0	0	1	0	10059	347	12	5	1435	5	MUSK	9	113538912	Splice_Site	SNP	A	TCGA-CX-7086-01A-11D-2078-08	3804558	113538912	27674519	138	68498											
TLR4	7099	broad.mit.edu	37	chr9	120475917	120475917	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgaccttcctggacctctCtcagtgtcaactggagcagt	7	12	9	13	0	3	1	2	1	1	0	5	3	4	3	3	2	2	1	3	2	1	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:120475917C>G	ENST00000355622.6	+	3	1612	c.1511C>G	c.(1510-1512)tCt>tGt	p.S504C	TLR4_ENST00000394487.4_Missense_Mutation_p.S464C|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	504					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTGGACCTCTCTCAGTGTCAA	0.438													10	51					0	0	0	0	G	120475917	C	G	120475917	3	3	360	1	0	0	0	0	1	0	0	0	16047	913	32	2	1521	2	TLR4	9	120475917	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	6937005	120475917	20737514	139	68499											
GOLGA2	2801	broad.mit.edu	37	chr9	131022757	131022757	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcgcaccagctttacaaatCcgctctgcagctcagccagc	10	7	8	16	2	2	0	1	0	1	0	3	0	3	0	3	0	7	5	3	0	2	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:131022757C>G	ENST00000421699.2	-	17	1676	c.1664G>C	c.(1663-1665)gGa>gCa	p.G555A		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	555						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CTTTACAAATCCGCTCTGCAG	0.612													12	57					0	0	0	0	G	131022757	C	G	131022757	3	3	360	1	0	0	0	0	1	0	0	0	6603	855	30	2	1384	2	GOLGA2	9	131022757	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	10546840	131022757	10190674	140	68500											
PRRX2	51450	broad.mit.edu	37	chr9	132481518	132481518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caacctccgcaggtgagtgtCccagcccggggcgcggtagc	6	5	15	15	4	0	1	0	1	0	0	2	1	2	1	4	4	3	2	4	4	2	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:132481518C>T	ENST00000372469.4	+	2	495	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	90				P -> S (in Ref. 5; AAB39864).		nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				AGGTGAGTGTCCCAGCCCGGG	0.657													6	3					0	0	0	0	T	132481518	C	T	132481518	3	4	360	1	0	0	0	0	1	0	0	0	12692	855	30	2	274	2	PRRX2	9	132481518	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	1458761	132481518	8731913	141	68501											
PTF1A	256297	broad.mit.edu	37	chr10	23481462	23481462	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccactgcggcggcgagcatGgacgcggtgttgctggagca	6	6	17	12	5	0	0	0	0	0	0	0	3	0	2	1	5	4	4	1	5	0	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:23481462G>C	ENST00000376504.3	+	1	207	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	1					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CGGCGAGCATGGACGCGGTGT	0.657													8	35					0	0	0	0	C	23481462	G	C	23481462	1	2	360	1	0	0	0	0	0	0	0	0	12819	1348	47	4		4	PTF1A	10	23481462	Translation_Start_Site	SNP	G	TCGA-CX-7086-01A-11D-2078-08		23481462	112053285	142	68502											
ZEB1	6935	broad.mit.edu	37	chr10	31803553	31803553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgtgacgcagtctgggtGtaatcgtaaattcaaatgca	13	11	10	7	2	2	1	1	1	1	0	3	1	2	1	0	1	1	4	0	1	4	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:31803553G>T	ENST00000446923.2	+	6	1050	c.659G>T	c.(658-660)tGt>tTt	p.C220F	ZEB1_ENST00000542815.3_Missense_Mutation_p.C169F|ZEB1_ENST00000361642.5_Missense_Mutation_p.C237F|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.C236F|ZEB1_ENST00000560721.2_Missense_Mutation_p.C216F	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	236					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAGTCTGGGTGTAATCGTAAA	0.328													7	41					2.0095e-06	2.21525e-06	1	0	T	31803553	G	T	31803553	3	4	360	1	0	0	0	0	1	0	0	0	17718	1377	48	4	743	4	ZEB1	10	31803553	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	8322091	31803553	103731194	143	68503											
IFIT2	3433	broad.mit.edu	37	chr10	91066959	91066959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagatgaaagacaaactgCaaaaaattgccaaaatgcga	23	5	7	6	1	0	3	0	1	0	2	0	4	0	3	1	0	4	1	1	0	9	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:91066959C>A	ENST00000371826.3	+	2	1415	c.1246C>A	c.(1246-1248)Caa>Aaa	p.Q416K	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	416					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AGACAAACTGCAAAAAATTGC	0.388													23	76					9.57634e-11	1.10866e-10	1	0	A	91066959	C	A	91066959	3	1	360	1	0	0	0	0	1	0	0	0	7576	711	25	4	1252	4	IFIT2	10	91066959	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	59263406	91066959	44467788	144	68504											
CYP26A1	1592	broad.mit.edu	37	chr10	94835689	94835689	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctacccacatgttctccAgaaagtgcgagaagagctga	12	8	10	11	1	2	4	0	1	2	3	3	5	2	4	2	0	3	3	2	0	3	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:94835689A>G	ENST00000371531.1	+	5	1142	c.764A>G	c.(763-765)cAg>cGg	p.Q255R	CYP26A1_ENST00000394139.1_Missense_Mutation_p.Q255R|CYP26A1_ENST00000224356.4_Missense_Mutation_p.Q324R	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	324					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				CATGTTCTCCAGAAAGTGCGA	0.512													21	18					0	0	0	0	G	94835689	A	G	94835689	3	3	360	1	0	0	0	0	1	0	0	0	4187	188	7	5	989	5	CYP26A1	10	94835689	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	3768730	94835689	40699058	145	68505											
ACSL5	51703	broad.mit.edu	37	chr10	114177625	114177625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctgggcggaagggttCgtgtaattgtcactggagct	8	10	15	8	2	1	0	1	0	0	0	2	2	1	2	1	4	2	3	1	4	2	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:114177625C>A	ENST00000393081.1	+	14	1547	c.1240C>A	c.(1240-1242)Cgt>Agt	p.R414S	RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.R414S|ACSL5_ENST00000354273.4_Missense_Mutation_p.R414S|ACSL5_ENST00000369410.3_Missense_Mutation_p.R196S|ACSL5_ENST00000356116.1_Missense_Mutation_p.R470S|ACSL5_ENST00000354655.4_Missense_Mutation_p.R414S	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	414					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.R470C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CGGAAGGGTTCGTGTAATTGT	0.473													31	25					3.86903e-22	4.64571e-22	1	0	A	114177625	C	A	114177625	3	1	360	1	0	0	0	0	1	0	0	0	180	884	31	3	1462	3	ACSL5	10	114177625	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	19341936	114177625	21357122	146	68506											
TIAL1	7073	broad.mit.edu	37	chr10	121342100	121342100	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaatccaacagaagagttGacccttctgctatcgggttg	12	10	10	9	1	1	3	0	1	1	2	3	4	2	3	2	1	2	3	2	1	5	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:121342100G>C	ENST00000369093.2	-	3	179	c.150C>G	c.(148-150)gtC>gtG	p.V50V	TIAL1_ENST00000369092.4_Intron|TIAL1_ENST00000436547.2_Intron	NM_001033925.1	NP_001029097.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	43	RRM 1.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CAGAAGAGTTGACCCTTCTGC	0.408													21	37					0	0	0	0	C	121342100	G	C	121342100	2	2	360	1	0	0	0	0	0	0	0	1	15983	1277	45	2		2	TIAL1	10	121342100	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	7164475	121342100	14192647	147	68507											
DMBT1	1755	broad.mit.edu	37	chr10	124336113	124336113	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggtttggccagggctCaggacccattgccctggatg	5	10	14	12	0	1	0	1	0	0	0	1	2	1	2	4	5	2	2	4	5	0	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:124336113C>A	ENST00000338354.3	+	7	588	c.482C>A	c.(481-483)tCa>tAa	p.S161*	DMBT1_ENST00000344338.3_Nonsense_Mutation_p.S161*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.S161*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.S161*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.S161*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.S161*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.S161*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	161	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCCAGGGCTCAGGACCCATT	0.592													35	92					1.99505e-19	2.36912e-19	1	0	A	124336113	C	A	124336113	4	1	360	1	0	0	0	0	0	1	0	0	4614	838	29	2	508	2	DMBT1	10	124336113	Nonsense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	2994013	124336113	11198634	148	68508											
PHRF1	57661	broad.mit.edu	37	chr11	607244	607244	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcacccccgcccgcaccgcGggggcgcctgtgaggctgga	4	3	16	18	6	0	1	0	1	0	0	0	2	0	2	5	4	0	3	5	4	0	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:607244G>A	ENST00000264555.5	+	14	1916	c.1788G>A	c.(1786-1788)gcG>gcA	p.A596A	PHRF1_ENST00000413872.2_Silent_p.A594A|PHRF1_ENST00000533464.1_Silent_p.A592A|PHRF1_ENST00000416188.2_Silent_p.A595A	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	596							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCCGCACCGCGGGGGCGCCTG	0.692													14	44					0	0	0	0	A	607244	G	A	607244	2	1	360	1	0	0	0	0	0	0	0	1	11933	1103	39	1		1	PHRF1	11	607244	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08		607244	134399272	149	68509											
OR51M1	390059	broad.mit.edu	37	chr11	5410918	5410918	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccactatggggatctTctggtttaactcccatagta	9	12	8	12	0	2	0	0	0	2	0	3	1	3	1	3	3	1	2	3	3	4	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:5410918T>C	ENST00000328611.3	+	1	312	c.290T>C	c.(289-291)tTc>tCc	p.F97S	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	97						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGGGATCTTCTGGTTTAAC	0.502													33	82					0	0	0	0	C	5410918	T	C	5410918	3	2	360	1	0	0	0	0	1	0	0	0	11174	1783	62	5	292	5	OR51M1	11	5410918	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	4803674	5410918	129595598	150	68510											
CCKBR	887	broad.mit.edu	37	chr11	6292427	6292427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctaagaagcgcgtggtgcGaatgttgctggtgatcgttg	7	11	17	6	4	0	2	0	1	0	1	1	3	0	2	0	3	3	4	0	3	3	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:6292427G>A	ENST00000525462.1	+	4	1208	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q	CCKBR_ENST00000334619.2_Missense_Mutation_p.R333Q|CCKBR_ENST00000532715.1_Missense_Mutation_p.R249Q|CCKBR_ENST00000532396.1_3'UTR			P32239	GASR_HUMAN	cholecystokinin B receptor	333					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CGCGTGGTGCGAATGTTGCTG	0.632													6	37					0	0	0	0	A	6292427	G	A	6292427	3	1	360	1	0	0	0	0	1	0	0	0	2908	1058	37	1	1016	1	CCKBR	11	6292427	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	881509	6292427	128714089	151	68511											
PIK3C2A	5286	broad.mit.edu	37	chr11	17122958	17122958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacatatgccatatcagagGtcagcacaaaaggagcccga	15	6	10	10	1	2	2	2	1	0	1	2	4	2	3	2	2	3	1	2	2	4	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:17122958G>A	ENST00000265970.7	-	24	3874	c.3875C>T	c.(3874-3876)aCc>aTc	p.T1292I	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.T912I|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1292	PI3K/PI4K.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CATATCAGAGGTCAGCACAAA	0.373													7	32					0	0	0	0	A	17122958	G	A	17122958	3	1	360	1	0	0	0	0	1	0	0	0	11981	1261	44	4	1221	4	PIK3C2A	11	17122958	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	10830531	17122958	117883558	152	68512											
NELL1	4745	broad.mit.edu	37	chr11	20907084	20907084	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaaagcatggcttattcAaagtaagcactaacgttctt	15	11	6	9	1	2	0	1	0	1	0	2	0	2	0	1	1	3	5	1	1	6	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:20907084A>G	ENST00000298925.5	+	6	838	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E	NELL1_ENST00000325319.5_Missense_Mutation_p.K144E|NELL1_ENST00000357134.5_Missense_Mutation_p.K201E|NELL1_ENST00000532434.1_Missense_Mutation_p.K201E			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	201	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGGCTTATTCAAAGTAAGCAC	0.393													13	26					0	0	0	0	G	20907084	A	G	20907084	3	3	360	1	0	0	0	0	1	0	0	0	10403	131	5	5	619	5	NELL1	11	20907084	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	3784126	20907084	114099432	153	68513											
OR4C46	119749	broad.mit.edu	37	chr11	51515583	51515583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgcatgactcaagtctttgGagaacatttcttcggaggtg	10	13	11	7	1	3	2	1	1	2	1	4	4	3	3	0	3	2	1	0	3	2	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:51515583G>A	ENST00000328188.1	+	1	302	c.302G>A	c.(301-303)gGa>gAa	p.G101E		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CAAGTCTTTGGAGAACATTTC	0.463													21	69					0	0	0	0	A	51515583	G	A	51515583	3	1	360	1	0	0	0	0	1	0	0	0	11122	1174	41	2	304	2	OR4C46	11	51515583	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	30608499	51515583	83490933	154	68514											
OR5F1	338674	broad.mit.edu	37	chr11	55761812	55761812	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagtacatctgtaggaagCagccagcaaaagagatggtt	16	7	12	6	0	1	2	0	0	1	2	1	4	1	3	1	2	4	5	1	2	6	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:55761812C>A	ENST00000278409.1	-	1	289	c.290G>T	c.(289-291)tGc>tTc	p.C97F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97F(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CTGTAGGAAGCAGCCAGCAAA	0.473													23	67					1.42536e-11	1.66808e-11	1	0	A	55761812	C	A	55761812	3	1	360	1	0	0	0	0	1	0	0	0	11229	710	25	4	657	4	OR5F1	11	55761812	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	4246229	55761812	79244704	155	68515											
DAK	26007	broad.mit.edu	37	chr11	61110820	61110820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggtattgcagagggccGcggggtgaagattgcccgtg	6	9	17	9	3	1	3	0	1	1	2	1	3	1	3	2	4	2	2	2	4	2	3	rs142716350	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:61110820G>A	ENST00000394900.3	+	11	1101	c.872G>A	c.(871-873)cGc>cAc	p.R291H		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	291	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GCAGAGGGCCGCGGGGTGAAG	0.562													22	61					0	0	0	0	A	61110820	G	A	61110820	3	1	360	1	0	0	0	0	1	0	0	0	4261	1087	38	1	910	1	DAK	11	61110820	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	5349008	61110820	73895696	156	68516											
LTBP3	4054	broad.mit.edu	37	chr11	65308358	65308358	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccacggtgggctgggatGccgtagttgacgatgttgtt	6	13	15	7	3	0	1	0	1	0	0	0	3	0	2	2	3	2	5	2	3	2	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:65308358G>A	ENST00000301873.5	-	21	3229	c.2961C>T	c.(2959-2961)ggC>ggT	p.G987G	LTBP3_ENST00000322147.4_Silent_p.G987G|LTBP3_ENST00000532932.1_Silent_p.G417G|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000536982.1_Silent_p.G613G|LTBP3_ENST00000530785.1_5'UTR	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	987						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GGGCTGGGATGCCGTAGTTGA	0.706											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0	0	0	0	A	65308358	G	A	65308358	2	1	360	1	0	0	0	0	0	0	0	1	9139	1306	46	4		4	LTBP3	11	65308358	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	4197538	65308358	69698158	157	68517											
EHBP1L1	254102	broad.mit.edu	37	chr11	65350494	65350494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagatagcatctagggattCaggggtcccagggttagaag	12	8	15	6	0	2	2	1	0	1	2	3	4	3	3	1	4	1	2	1	4	4	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:65350494C>T	ENST00000309295.4	+	9	2616	c.2351C>T	c.(2350-2352)tCa>tTa	p.S784L		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	784	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTAGGGATTCAGGGGTCCCA	0.542													8	27					0	0	0	0	T	65350494	C	T	65350494	3	4	360	1	0	0	0	0	1	0	0	0	5012	838	29	2	2385	2	EHBP1L1	11	65350494	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	42136	65350494	69656022	158	68518											
SPTBN2	6712	broad.mit.edu	37	chr11	66460538	66460557	+	Frame_Shift_Del	DEL	GCTTCTTCACCTCTGCCTGG	GCTTCTTCACCTCTGCCTGG	-																															ggcttgctccagcacctggtGcttcttcacctctgcctggg																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:66460538_66460557delGCTTCTTCACCTCTGCCTGG	ENST00000533211.1	-	25	5200_5219	c.4869_4888delCCAGGCAGAGGTGAAGAAGC	c.(4867-4890)gcacfs	p.AQAEVKKH1623fs	SPTBN2_ENST00000309996.2_Frame_Shift_Del_p.AQAEVKKH1623fs|SPTBN2_ENST00000529997.1_Frame_Shift_Del_p.AQAEVKKH1623fs			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1623					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGCACCTGGTGCTTCTTCACCTCTGCCTGGGCACTCAGCT	0.632													9	53	---	---	---	---					-	66460557	GCTTCTTCACCTCTGCCTGG	-	66460538	7	5	360	1	0	1	0	1	0	0	0	0	15210	1319	46	0	2340	0	SPTBN2	11	66460538	Frame_Shift_Del	DEL	GCTTCTTCACCTCTGCCTGG	TCGA-CX-7086-01A-11D-2078-08	1110044	66460538	68545978	159	68519											
KDM2A	22992	broad.mit.edu	37	chr11	66888812	66888812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacccgaagaagaaaggattCgttacagccagagattggtt	15	8	11	7	2	0	3	0	0	0	3	1	6	0	4	2	2	3	2	2	2	5	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:66888812C>T	ENST00000529006.2	+	2	471	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	KDM2A_ENST00000398645.2_Missense_Mutation_p.R9C	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGAAAGGATTCGTTACAGCCA	0.423													8	23					0	0	0	0	T	66888812	C	T	66888812	3	4	360	1	0	0	0	0	1	0	0	0	8177	884	31	1	27	1	KDM2A	11	66888812	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	428274	66888812	68117704	160	68520											
ALDH3B1	221	broad.mit.edu	37	chr11	67789312	67789312	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgtggccattgggggcCagagcgatgagagcgatcgc	7	6	19	9	4	0	2	0	1	0	2	1	5	0	2	2	4	2	0	2	4	0	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:67789312C>T	ENST00000539229.1	+	9	1032	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	ALDH3B1_ENST00000007633.8_Nonsense_Mutation_p.Q306*|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000342456.6_Nonsense_Mutation_p.Q270*|ALDH3B1_ENST00000316367.6_Intron	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	308					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	CATTGGGGGCCAGAGCGATGA	0.662													13	37					0	0	0	0	T	67789312	C	T	67789312	4	4	360	1	0	0	0	0	0	1	0	0	499	581	21	4	942	4	ALDH3B1	11	67789312	Nonsense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	900500	67789312	67217204	161	68521											
PPFIA1	8500	broad.mit.edu	37	chr11	70171106	70171106	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatttgaacaccacaaagctCtggatgaaaaggtgccatca	15	9	8	9	0	2	2	1	2	1	0	2	3	2	3	2	2	3	1	2	2	5	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:70171106C>G	ENST00000253925.7	+	4	735	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.L174V|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	174					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCACAAAGCTCTGGATGAAAA	0.473													16	341					0	0	0	0	G	70171106	C	G	70171106	3	3	360	1	0	0	0	0	1	0	0	0	12380	912	32	2	530	2	PPFIA1	11	70171106	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	2381794	70171106	64835410	162	68522											
PPFIA1	8500	broad.mit.edu	37	chr11	70176374	70176374	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacatctgtgcatgacctCaatgataaacttgaaaatga	15	10	7	9	0	2	4	1	4	1	0	2	4	2	4	2	0	2	1	2	0	5	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:70176374C>G	ENST00000253925.7	+	8	1241	c.1026C>G	c.(1024-1026)ctC>ctG	p.L342L	PPFIA1_ENST00000389547.3_Silent_p.L342L|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	342					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGCATGACCTCAATGATAAAC	0.383													12	296					0	0	0	0	G	70176374	C	G	70176374	2	3	360	1	0	0	0	0	0	0	0	1	12380	813	29	2		2	PPFIA1	11	70176374	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	5268	70176374	64830142	163	68523											
KIAA1377	57562	broad.mit.edu	37	chr11	101832997	101832997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagagaccattagttactGagagcccaacatttaaattt	15	11	8	7	0	0	3	0	1	0	3	0	6	0	3	2	0	3	1	2	0	5	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:101832997G>A	ENST00000263468.8	+	6	1501	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E212K	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	411							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATTAGTTACTGAGAGCCCAAC	0.378													8	174					0	0	0	0	A	101832997	G	A	101832997	3	1	360	1	0	0	0	0	1	0	0	0	8278	1291	45	2	1253	2	KIAA1377	11	101832997	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	31656623	101832997	33173519	164	68524											
ADIPOR2	79602	broad.mit.edu	37	chr12	1889776	1889776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacacagtctactgccactCagagggggtctctcggctct	7	9	10	15	1	4	1	1	0	3	1	6	1	4	1	2	3	2	1	2	3	1	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:1889776C>T	ENST00000357103.4	+	5	874	c.623C>T	c.(622-624)tCa>tTa	p.S208L		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	208					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TACTGCCACTCAGAGGGGGTC	0.458													28	176					0	0	0	0	T	1889776	C	T	1889776	3	4	360	1	0	0	0	0	1	0	0	0	319	838	29	2	637	2	ADIPOR2	12	1889776	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08		1889776	131962119	165	68525											
VWF	7450	broad.mit.edu	37	chr12	6128892	6128892	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaggcttcacaggtgaggTtgacaacatcacagtggctg	10	8	14	9	0	2	2	2	2	0	0	2	2	2	2	0	5	1	4	0	5	1	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:6128892T>G	ENST00000261405.5	-	28	3946	c.3692A>C	c.(3691-3693)aAc>aCc	p.N1231T		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1231					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACAGGTGAGGTTGACAACATC	0.542													4	19					0	0	0	0	G	6128892	T	G	6128892	3	3	360	1	0	0	0	0	1	0	0	0	17342	1725	60	5	4849	5	VWF	12	6128892	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	4239116	6128892	127723003	166	68526											
CD163	9332	broad.mit.edu	37	chr12	7649555	7649555	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atcccttactggcgttaactCgaccaatggctgtgacggca	9	10	10	12	3	0	1	0	1	0	0	2	2	1	1	2	3	2	3	2	3	3	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:7649555C>G	ENST00000359156.4	-	5	1155	c.953G>C	c.(952-954)cGa>cCa	p.R318P	CD163_ENST00000541972.1_Missense_Mutation_p.R306P|CD163_ENST00000432237.2_Missense_Mutation_p.R318P|CD163_ENST00000396620.3_Missense_Mutation_p.R318P	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	318	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGCGTTAACTCGACCAATGGC	0.517													35	34					0	0	0	0	G	7649555	C	G	7649555	3	3	360	1	0	0	0	0	1	0	0	0	2996	884	31	3	2565	3	CD163	12	7649555	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	1520663	7649555	126202340	167	68527											
C3AR1	719	broad.mit.edu	37	chr12	8211882	8211882	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgtagaaggaattgctagaAgcgctagggaacagctttaa	14	9	12	6	2	0	2	0	0	0	2	1	4	0	4	0	2	4	4	0	2	8	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:8211882A>T	ENST00000307637.4	-	2	1103	c.900T>A	c.(898-900)gcT>gcA	p.A300A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	300					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AATTGCTAGAAGCGCTAGGGA	0.448													34	64					0	0	0	0	T	8211882	A	T	8211882	2	4	360	1	0	0	0	0	0	0	0	1	2225	59	3	5		5	C3AR1	12	8211882	Silent	SNP	A	TCGA-CX-7086-01A-11D-2078-08	562327	8211882	125640013	168	68528											
ABCC9	10060	broad.mit.edu	37	chr12	21998701	21998701	+	Missense_Mutation	SNP	G	G	T																															gcgccagcaggttttccatgGcattttagtcctgagcctca																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:21998701G>T	ENST00000261200.4	-	24	2931	c.2932C>A	c.(2932-2934)Cca>Aca	p.P978T	ABCC9_ENST00000261201.4_Missense_Mutation_p.P978T|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.P942T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	978					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTTTTCCATGGCATTTTAGTC	0.418													9	46					3.09899e-07	3.4756e-07	1	0	T	21998701	G	T	21998701	3	4	360	1	0	0	0	0	1	0	0	0	59	1203	42	4	1919	4	ABCC9	12	21998701	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	13786819	21998701	111853194	169	68529	835	2									
ABCC9	10060	broad.mit.edu	37	chr12	21998702	21998702	+	Missense_Mutation	SNP	C	C	T																															cgccagcaggttttccatggCattttagtcctgagcctcat																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:21998702C>T	ENST00000261200.4	-	24	2930	c.2931G>A	c.(2929-2931)atG>atA	p.M977I	ABCC9_ENST00000261201.4_Missense_Mutation_p.M977I|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.M941I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	977					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTTCCATGGCATTTTAGTCC	0.423													9	46					0	0	0	0	T	21998702	C	T	21998702	3	4	360	1	0	0	0	0	1	0	0	0	59	710	25	4	1920	4	ABCC9	12	21998702	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	1	21998702	111853193	170	68530	835	2									
TMTC1	83857	broad.mit.edu	37	chr12	29689237	29689237	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaggtgatagcttcttcctTtttctcctgggacctataga	8	16	8	9	0	2	2	0	1	2	1	4	3	3	3	3	2	1	1	3	2	4	8			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:29689237T>G	ENST00000256062.5	-	11	1839	c.1366A>C	c.(1366-1368)Aag>Cag	p.K456Q	TMTC1_ENST00000381224.2_Missense_Mutation_p.K518Q|TMTC1_ENST00000551659.1_Missense_Mutation_p.K626Q|TMTC1_ENST00000539277.1_Missense_Mutation_p.K564Q|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.K588Q	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	564						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GCTTCTTCCTTTTTCTCCTGG	0.378													38	52					0	0	0	0	G	29689237	T	G	29689237	3	3	360	1	0	0	0	0	1	0	0	0	16354	1850	64	5	990	5	TMTC1	12	29689237	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	7690535	29689237	104162658	171	68531											
RAPGEF3	10411	broad.mit.edu	37	chr12	48143226	48143226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgcaggaaatgacagttgtCttctcgcaggatgatggtgg	10	10	14	7	2	2	2	0	2	2	0	3	4	2	4	0	4	0	3	0	4	1	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:48143226C>T	ENST00000405493.2	-	10	1071	c.862G>A	c.(862-864)Gac>Aac	p.D288N	RAPGEF3_ENST00000548919.1_Missense_Mutation_p.D288N|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.D330N|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.D330N|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.D288N|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.D288N|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.D330N	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	288					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGACAGTTGTCTTCTCGCAGG	0.582													6	50					0	0	0	0	T	48143226	C	T	48143226	3	4	360	1	0	0	0	0	1	0	0	0	13127	913	32	2	1859	2	RAPGEF3	12	48143226	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	18453989	48143226	85708669	172	68532											
GLI1	2735	broad.mit.edu	37	chr12	57858517	57858517	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaagcgggcactgtccatCtcacctctgtcggatgccag	9	8	11	13	2	2	1	1	0	2	1	5	2	3	2	3	2	2	1	3	2	2	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:57858517C>G	ENST00000228682.2	+	4	346	c.255C>G	c.(253-255)atC>atG	p.I85M	GLI1_ENST00000546141.1_Missense_Mutation_p.I44M|GLI1_ENST00000543426.1_5'UTR	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	85					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CACTGTCCATCTCACCTCTGT	0.587													12	33					0	0	0	0	G	57858517	C	G	57858517	3	3	360	1	0	0	0	0	1	0	0	0	6488	903	32	2	265	2	GLI1	12	57858517	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	9715291	57858517	75993378	173	68533											
LRRIQ1	84125	broad.mit.edu	37	chr12	85500352	85500352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctattctctccatgaattGtctcttactggaaacccact	9	15	5	12	0	2	1	0	1	2	0	5	2	3	2	2	1	3	1	2	1	4	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:85500352G>T	ENST00000393217.2	+	15	3397	c.3336G>T	c.(3334-3336)ttG>ttT	p.L1112F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1112										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCCATGAATTGTCTCTTACTG	0.338													8	49					0.000157383	0.00016722	1	0	T	85500352	G	T	85500352	3	4	360	1	0	0	0	0	1	0	0	0	9093	1368	48	4	3390	4	LRRIQ1	12	85500352	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	27641835	85500352	48351543	174	68534											
UTP20	27340	broad.mit.edu	37	chr12	101685601	101685601	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattaaaaggttgttggaaAcataccttatacttgtaaaa	17	13	7	4	0	0	1	0	0	0	1	0	2	0	2	1	2	3	3	1	2	8	8			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:101685601A>G	ENST00000261637.4	+	9	1147	c.973A>G	c.(973-975)Aca>Gca	p.T325A		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	325					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTTGTTGGAAACATACCTTAT	0.383													7	20					0	0	0	0	G	101685601	A	G	101685601	3	3	360	1	0	0	0	0	1	0	0	0	17195	43	2	5	1007	5	UTP20	12	101685601	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	16185249	101685601	32166294	175	68535											
NUAK1	9891	broad.mit.edu	37	chr12	106461427	106461427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggcactgcatcctgaccaGactgagcaaagtcattctct	11	9	8	13	0	2	3	1	2	1	1	4	3	3	3	2	1	2	3	2	1	1	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:106461427G>A	ENST00000261402.2	-	7	2518	c.1139C>T	c.(1138-1140)tCt>tTt	p.S380F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	380							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						ATCCTGACCAGACTGAGCAAA	0.542													26	65					0	0	0	0	A	106461427	G	A	106461427	3	1	360	1	0	0	0	0	1	0	0	0	10783	942	33	2	850	2	NUAK1	12	106461427	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	4775826	106461427	27390468	176	68536											
SACS	26278	broad.mit.edu	37	chr13	23945292	23945292	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagatctccaatcttgaTccagtcagataactgaaaaa	16	10	6	9	0	4	4	2	2	2	2	6	4	5	4	2	0	1	0	2	0	4	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:23945292T>A	ENST00000382298.3	-	4	772	c.184A>T	c.(184-186)Atc>Ttc	p.I62F	SACS_ENST00000402364.1_Intron|SACS_ENST00000382292.3_Missense_Mutation_p.I62F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	62	Ubiquitin-like.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCAATCTTGATCCAGTCAGAT	0.303													9	21					0	0	0	0	A	23945292	T	A	23945292	3	1	360	1	0	0	0	0	1	0	0	0	13889	1435	50	5	13583	5	SACS	13	23945292	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08		23945292	91224586	177	68537											
NBEA	26960	broad.mit.edu	37	chr13	35517144	35517144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccccgcggggatgattaacCcttcggtgccgatccgcaac	7	8	11	15	5	0	1	0	1	0	0	3	3	2	2	5	3	3	1	5	3	2	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:35517144C>G	ENST00000540320.1	+	1	721	c.187C>G	c.(187-189)Cct>Gct	p.P63A	NBEA_ENST00000379939.2_Missense_Mutation_p.P63A|NBEA_ENST00000310336.4_Missense_Mutation_p.P63A|NBEA_ENST00000400445.3_Missense_Mutation_p.P63A			Q8NFP9	NBEA_HUMAN	neurobeachin	63						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATGATTAACCCTTCGGTGCC	0.652													9	16					0	0	0	0	G	35517144	C	G	35517144	3	3	360	1	0	0	0	0	1	0	0	0	10257	623	22	4	189	4	NBEA	13	35517144	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	11571852	35517144	79652734	178	68538											
ZC3H13	23091	broad.mit.edu	37	chr13	46563012	46563012	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cattggagagcgatgtcttgGaggactctgctttctctggg	6	13	14	8	1	3	1	0	0	3	1	4	5	3	3	0	4	2	1	0	4	0	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:46563012G>C	ENST00000242848.4	-	9	1513	c.1165C>G	c.(1165-1167)Cca>Gca	p.P389A	ZC3H13_ENST00000282007.3_Missense_Mutation_p.P389A			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	389	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CGATGTCTTGGAGGACTCTGC	0.493													7	23					0	0	0	0	C	46563012	G	C	46563012	3	2	360	1	0	0	0	0	1	0	0	0	17660	1174	41	2	3565	2	ZC3H13	13	46563012	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	11045868	46563012	68606866	179	68539											
ALG11	440138	broad.mit.edu	37	chr13	52586554	52586554	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagttcgggggtcggcggaaGatggcggccggcgaaaggag	8	4	22	7	6	0	1	0	0	0	1	2	5	0	3	1	8	0	1	1	8	2	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:52586554G>A	ENST00000521508.1	+	0	5				ALG11_ENST00000523764.1_De_novo_Start_InFrame	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GTCGGCGGAAGATGGCGGCCG	0.597													11	23					0	0	0	0	A	52586554	G	A	52586554	1	1	360	1	0	0	0	0	0	0	0	0	513	957	33	2		2	ALG11	13	52586554	Translation_Start_Site	SNP	G	TCGA-CX-7086-01A-11D-2078-08	6023542	52586554	62583324	180	68540											
MYO16	23026	broad.mit.edu	37	chr13	109438041	109438041	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcccattagattatgctgTagaagggacagaatccagct	13	11	9	8	0	0	3	0	0	0	3	2	4	2	4	2	1	2	3	2	1	6	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:109438041T>C	ENST00000356711.2	+	5	626	c.500T>C	c.(499-501)gTa>gCa	p.V167A	MYO16_ENST00000467639.1_3'UTR|MYO16_ENST00000357550.2_Missense_Mutation_p.V167A|MYO16_ENST00000251041.5_Missense_Mutation_p.V167A	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	167					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GATTATGCTGTAGAAGGGACA	0.343													21	24					0	0	0	0	C	109438041	T	C	109438041	3	2	360	1	0	0	0	0	1	0	0	0	10134	1638	57	5	514	5	MYO16	13	109438041	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	56851487	109438041	5731837	181	68541											
MCF2L	23263	broad.mit.edu	37	chr13	113748882	113748882	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaggacgacgggggctggtCaagtgcagaggagcagatta	11	6	18	6	2	1	3	1	1	0	2	1	6	1	5	0	5	2	3	0	5	2	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:113748882C>G	ENST00000397030.1	+	27	3144	c.3107C>G	c.(3106-3108)tCa>tGa	p.S1036*	MCF2L_ENST00000434480.2_Nonsense_Mutation_p.S1009*|MCF2L_ENST00000375604.2_Nonsense_Mutation_p.S1060*|MCF2L_ENST00000375608.3_Nonsense_Mutation_p.S1033*|MCF2L_ENST00000442652.2_Nonsense_Mutation_p.S1033*|MCF2L_ENST00000421756.1_Nonsense_Mutation_p.S1007*|MCF2L_ENST00000375601.3_Nonsense_Mutation_p.S1007*|MCF2L_ENST00000423482.2_Nonsense_Mutation_p.S1001*|MCF2L_ENST00000535094.2_Nonsense_Mutation_p.S1003*			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1033					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGGGGCTGGTCAAGTGCAGAG	0.632													7	16					0	0	0	0	G	113748882	C	G	113748882	4	3	360	1	0	0	0	0	0	1	0	0	9448	838	29	2	3380	2	MCF2L	13	113748882	Nonsense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	4310841	113748882	1420996	182	68542											
ACIN1	22985	broad.mit.edu	37	chr14	23548865	23548865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgagggttggcatgagtaCgtgcctgggctacatctctc	7	10	13	11	2	1	1	0	1	1	0	3	2	1	1	1	3	3	4	1	3	2	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:23548865C>T	ENST00000262710.1	-	6	2180	c.1853G>A	c.(1852-1854)cGt>cAt	p.R618H	ACIN1_ENST00000457657.1_Missense_Mutation_p.R578H|ACIN1_ENST00000555053.1_Missense_Mutation_p.R618H|ACIN1_ENST00000605057.1_Missense_Mutation_p.R560H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	618	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGCATGAGTACGTGCCTGGGC	0.522													25	107					0	0	0	0	T	23548865	C	T	23548865	3	4	360	1	0	0	0	0	1	0	0	0	142	536	19	1	2375	1	ACIN1	14	23548865	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08		23548865	83800675	183	68543											
LRRC16B	90668	broad.mit.edu	37	chr14	24531703	24531703	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacagtgaagtgaagctctCagtcgtcacctacctaacca	12	8	7	14	1	2	2	2	2	1	0	4	2	2	2	4	0	3	1	4	0	4	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:24531703C>G	ENST00000342740.5	+	28	2649	c.2495C>G	c.(2494-2496)tCa>tGa	p.S832*	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	832										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GTGAAGCTCTCAGTCGTCACC	0.572													28	110					0	0	0	0	G	24531703	C	G	24531703	4	3	360	1	0	0	0	0	0	1	0	0	9036	838	29	2	2605	2	LRRC16B	14	24531703	Nonsense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	982838	24531703	82817837	184	68544											
STXBP6	29091	broad.mit.edu	37	chr14	25288333	25288333	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcgctctccacgctcattCaaggcctggcttgccttctg	6	12	8	15	2	4	0	2	0	2	0	6	0	4	0	3	2	1	3	3	2	2	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:25288333C>G	ENST00000323944.5	-	5	970	c.519G>C	c.(517-519)ttG>ttC	p.L173F	STXBP6_ENST00000358326.2_Missense_Mutation_p.L173F|STXBP6_ENST00000550887.1_Missense_Mutation_p.L173F|STXBP6_ENST00000419632.2_Missense_Mutation_p.L173F|STXBP6_ENST00000396700.1_Missense_Mutation_p.L173F|STXBP6_ENST00000548369.1_Missense_Mutation_p.L71F|STXBP6_ENST00000548724.1_Missense_Mutation_p.L173F|STXBP6_ENST00000546511.1_Missense_Mutation_p.L173F			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	173	v-SNARE coiled-coil homology.				vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CACGCTCATTCAAGGCCTGGC	0.562													5	88					0	0	0	0	G	25288333	C	G	25288333	3	3	360	1	0	0	0	0	1	0	0	0	15448	825	29	2	121	2	STXBP6	14	25288333	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	756630	25288333	82061207	185	68545											
TRMT5	57570	broad.mit.edu	37	chr14	61444232	61444232	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagataataaaatatacCtttgtcatcatgttctgctc	12	16	6	7	0	3	1	2	0	1	1	4	2	3	1	1	1	2	2	1	1	5	7			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:61444232C>A	ENST00000261249.6	-	3	1176	c.792_splice	c.e3+1	p.K264_splice	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	264						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TAAAATATACCTTTGTCATCA	0.313													8	64					7.48243e-07	8.33388e-07	1	0	A	61444232	C	A	61444232	5	1	360	1	0	0	0	0	0	0	1	0	16662	695	24	4	749	4	TRMT5	14	61444232	Splice_Site	SNP	C	TCGA-CX-7086-01A-11D-2078-08	36155899	61444232	45905308	186	68546											
SYNE2	23224	broad.mit.edu	37	chr14	64595181	64595181	+	Missense_Mutation	SNP	G	G	T																															atcttacagaatgaaataaaGagattatatcatcagctcat																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:64595181G>T	ENST00000357395.3	+	75	14228	c.3084G>T	c.(3082-3084)aaG>aaT	p.K1028N	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1028N|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4643N|SYNE2_ENST00000344113.4_Missense_Mutation_p.K4643N|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1277N			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4643					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGAAATAAAGAGATTATATC	0.318													7	49					0.000157383	0.00016722	1	0	T	64595181	G	T	64595181	3	4	360	1	0	0	0	0	1	0	0	0	15537	933	33	2	14219	2	SYNE2	14	64595181	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	3150949	64595181	42754359	187	68547	836	2									
SYNE2	23224	broad.mit.edu	37	chr14	64595183	64595183	+	Missense_Mutation	SNP	G	G	A																															cttacagaatgaaataaagaGattatatcatcagctcatta																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:64595183G>A	ENST00000357395.3	+	75	14230	c.3086G>A	c.(3085-3087)aGa>aAa	p.R1029K	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1029K|SYNE2_ENST00000358025.3_Missense_Mutation_p.R4644K|SYNE2_ENST00000344113.4_Missense_Mutation_p.R4644K|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.R1278K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4644					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAATAAAGAGATTATATCAT	0.318													7	47					0	0	0	0	A	64595183	G	A	64595183	3	1	360	1	0	0	0	0	1	0	0	0	15537	942	33	2	14221	2	SYNE2	14	64595183	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	2	64595183	42754357	188	68548	836	2									
SYNE2	23224	broad.mit.edu	37	chr14	64596835	64596835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcagccctttcgtcactGagagccagcaagatgctttg	9	10	10	12	1	2	2	2	1	0	2	3	3	2	2	2	0	5	3	2	0	1	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:64596835G>A	ENST00000357395.3	+	77	14508	c.3364G>A	c.(3364-3366)Gag>Aag	p.E1122K	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1122K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4737K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E4737K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4654K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1371K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4737					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTCGTCACTGAGAGCCAGCA	0.468													4	32					0	0	0	0	A	64596835	G	A	64596835	3	1	360	1	0	0	0	0	1	0	0	0	15537	1291	45	2	14507	2	SYNE2	14	64596835	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	1652	64596835	42752705	189	68549											
TTC7B	145567	broad.mit.edu	37	chr14	91142901	91142901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catactggcctcttcttccaAgagcaatggtgagtaagtca	11	11	9	10	0	3	2	1	1	2	1	4	2	4	2	2	2	2	2	2	2	4	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:91142901A>G	ENST00000357056.2	-	9	1239	c.1118T>C	c.(1117-1119)cTt>cCt	p.L373P	TTC7B_ENST00000328459.6_Missense_Mutation_p.L373P			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	373							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCTTCTTCCAAGAGCAATGGT	0.547													11	68					0	0	0	0	G	91142901	A	G	91142901	3	3	360	1	0	0	0	0	1	0	0	0	16809	72	3	5	1461	5	TTC7B	14	91142901	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	26546066	91142901	16206639	190	68550											
MAGEL2	54551	broad.mit.edu	37	chr15	23890759	23890759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagtcatcaatgatttagCggagcccaggggaaaatttg	12	10	13	6	1	2	1	2	1	0	0	2	4	2	4	1	4	2	0	1	4	4	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:23890759C>T	ENST00000532292.1	-	1	416	c.322G>A	c.(322-324)Gct>Act	p.A108T		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AATGATTTAGCGGAGCCCAGG	0.632													4	7					0	0	0	0	T	23890759	C	T	23890759	3	4	360	1	0	0	0	0	1	0	0	0	9258	768	27	1	1622	1	MAGEL2	15	23890759	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08		23890759	78640633	191	68551											
RYR3	6263	broad.mit.edu	37	chr15	33927944	33927944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaggagacatgcgagtcgGctgggcgaggccaggctgtc	7	6	19	9	3	0	1	0	0	0	1	2	5	0	2	1	6	1	2	1	6	0	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:33927944G>A	ENST00000389232.4	+	26	3375	c.3305G>A	c.(3304-3306)gGc>gAc	p.G1102D	RYR3_ENST00000415757.3_Missense_Mutation_p.G1102D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1102	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGCGAGTCGGCTGGGCGAGG	0.507													7	14					0	0	0	0	A	33927944	G	A	33927944	3	1	360	1	0	0	0	0	1	0	0	0	13855	1203	42	4	3407	4	RYR3	15	33927944	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	10037185	33927944	68603448	192	68552											
PAK6	56924	broad.mit.edu	37	chr15	40568201	40568201	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagagccacagcccaggAgctcctagaccaccccttcc	11	4	9	17	0	0	3	0	0	0	3	2	5	2	4	7	1	3	1	7	1	1	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:40568201A>T	ENST00000455577.2	+	10	2729	c.1817A>T	c.(1816-1818)gAg>gTg	p.E606V	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.E651V|PAK6_ENST00000260404.4_Missense_Mutation_p.E651V|PAK6_ENST00000453867.1_Missense_Mutation_p.E651V|PAK6_ENST00000542403.2_Missense_Mutation_p.E651V|PAK6_ENST00000441369.1_Missense_Mutation_p.E651V	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	651	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		ACAGCCCAGGAGCTCCTAGAC	0.627													17	57					0	0	0	0	T	40568201	A	T	40568201	3	4	360	1	0	0	0	0	1	0	0	0	11475	304	11	5	1982	5	PAK6	15	40568201	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	6640257	40568201	61963191	193	68553											
UBR1	197131	broad.mit.edu	37	chr15	43346982	43346982	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcttcccaatttgtccTggctataaccctggaagttg	9	14	7	11	0	1	0	0	0	1	0	3	1	3	1	3	2	2	2	3	2	5	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:43346982T>A	ENST00000290650.4	-	12	1475	c.1397A>T	c.(1396-1398)cAg>cTg	p.Q466L	UBR1_ENST00000382177.2_Missense_Mutation_p.Q466L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	466					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CAATTTGTCCTGGCTATAACC	0.388													29	49					0	0	0	0	A	43346982	T	A	43346982	3	1	360	1	0	0	0	0	1	0	0	0	16997	1580	55	5	3996	5	UBR1	15	43346982	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	2778781	43346982	59184410	194	68554											
DUOX1	53905	broad.mit.edu	37	chr15	45455880	45455880	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttcgacctcaggaccactAtgctggtatgtcagggccca	9	9	11	12	1	2	0	2	0	0	0	3	2	2	1	3	3	1	3	3	3	2	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:45455880A>G	ENST00000321429.4	+	33	4806	c.4399A>G	c.(4399-4401)Atg>Gtg	p.M1467V	DUOX1_ENST00000389037.3_Missense_Mutation_p.M1467V|DUOX1_ENST00000561166.1_Missense_Mutation_p.M1113V|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1467					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGACCACTATGCTGGTATG	0.562											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	69					0	0	0	0	G	45455880	A	G	45455880	3	3	360	1	0	0	0	0	1	0	0	0	4836	449	16	5	4521	5	DUOX1	15	45455880	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	2108898	45455880	57075512	195	68555											
MYO5C	55930	broad.mit.edu	37	chr15	52531989	52531989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaagctgaatattaagcaCgaatcgtcggatactctgga	14	10	10	7	3	1	1	0	1	1	0	3	4	1	3	0	2	3	3	0	2	6	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:52531989C>A	ENST00000261839.7	-	21	2805	c.2644G>T	c.(2644-2646)Gtg>Ttg	p.V882L	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	882	IQ 5.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATATTAAGCACGAATCGTCGG	0.438													13	60					2.27111e-07	2.55599e-07	1	0	A	52531989	C	A	52531989	3	1	360	1	0	0	0	0	1	0	0	0	10150	536	19	3	2668	3	MYO5C	15	52531989	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	7076109	52531989	49999403	196	68556											
CCPG1	9236	broad.mit.edu	37	chr15	55677908	55677908	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcaacatttctatatctGacccctaaggaaaagtgata	16	12	5	8	0	3	2	1	2	2	0	3	3	3	3	2	1	1	0	2	1	8	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:55677908G>T	ENST00000310958.6	-	3	363	c.65C>A	c.(64-66)tCa>tAa	p.S22*	CCPG1_ENST00000569205.1_Nonsense_Mutation_p.S22*|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.S22*|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Nonsense_Mutation_p.S22*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	22	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCTATATCTGACCCCTAAGG	0.403													9	14					1.12685e-05	1.22964e-05	1	0	T	55677908	G	T	55677908	4	4	360	1	0	0	0	0	0	1	0	0	2967	1294	45	2	2232	2	CCPG1	15	55677908	Nonsense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	3145919	55677908	46853484	197	68557											
VPS13C	54832	broad.mit.edu	37	chr15	62254026	62254026	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcacacttgtggcagcccTttctgcagcctgggcagtgg	5	12	12	12	0	2	0	1	0	1	0	2	0	2	0	2	3	3	3	2	3	0	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:62254026T>C	ENST00000261517.5	-	35	3743	c.3670A>G	c.(3670-3672)Agg>Ggg	p.R1224G	VPS13C_ENST00000249837.3_Missense_Mutation_p.R1181G|VPS13C_ENST00000395898.3_Missense_Mutation_p.R1181G|VPS13C_ENST00000395896.4_Missense_Mutation_p.R1224G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1224					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTGGCAGCCCTTTCTGCAGCC	0.438													19	54					0	0	0	0	C	62254026	T	C	62254026	3	2	360	1	0	0	0	0	1	0	0	0	17287	1608	56	5	7823	5	VPS13C	15	62254026	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	6576118	62254026	40277366	198	68558											
CILP	8483	broad.mit.edu	37	chr15	65490630	65490630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctctgaggtgacctcatctCtgaagtccacagagaacatg	11	9	10	11	0	3	4	1	3	2	1	5	5	4	4	2	1	1	1	2	1	2	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:65490630C>G	ENST00000261883.4	-	9	2160	c.1994G>C	c.(1993-1995)aGa>aCa	p.R665T		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	665					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GACCTCATCTCTGAAGTCCAC	0.512													14	58					0	0	0	0	G	65490630	C	G	65490630	3	3	360	1	0	0	0	0	1	0	0	0	3458	913	32	2	1564	2	CILP	15	65490630	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	3236604	65490630	37040762	199	68559											
LRRC49	54839	broad.mit.edu	37	chr15	71197029	71197029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggatttatatgataaccaGattgaagaaattagtgggct	14	14	10	3	0	0	4	0	2	0	2	0	5	0	5	1	2	1	1	1	2	6	7			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:71197029G>C	ENST00000260382.5	+	5	695	c.435G>C	c.(433-435)caG>caC	p.Q145H	LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.Q135H|LRRC49_ENST00000443425.2_Missense_Mutation_p.Q101H|LRRC49_ENST00000560369.1_Missense_Mutation_p.Q150H|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	145						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATGATAACCAGATTGAAGAAA	0.348													32	99					0	0	0	0	C	71197029	G	C	71197029	3	2	360	1	0	0	0	0	1	0	0	0	9070	933	33	2	453	2	LRRC49	15	71197029	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	5706399	71197029	31334363	200	68560											
C15orf39	56905	broad.mit.edu	37	chr15	75501034	75501034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccacgctgtcggaggagcGggcactgcgggagctcgccc	6	4	16	15	5	0	0	0	0	0	0	2	3	0	3	2	4	3	3	2	4	0	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:75501034G>A	ENST00000360639.2	+	2	2965	c.2645G>A	c.(2644-2646)cGg>cAg	p.R882Q	C15orf39_ENST00000567617.1_Missense_Mutation_p.R882Q|C15orf39_ENST00000394987.4_Missense_Mutation_p.R882Q			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	882										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TCGGAGGAGCGGGCACTGCGG	0.672													5	9					0	0	0	0	A	75501034	G	A	75501034	3	1	360	1	0	0	0	0	1	0	0	0	1805	1116	39	1	2647	1	C15orf39	15	75501034	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	4304005	75501034	27030358	201	68561											
IL16	3603	broad.mit.edu	37	chr15	81575048	81575048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcatctctggcattttcGtccacacgctgtcaccagga	9	11	8	13	2	2	0	1	0	1	0	5	1	3	1	2	2	1	3	2	2	1	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:81575048G>A	ENST00000394660.2	+	9	1510	c.1150G>A	c.(1150-1152)Gtc>Atc	p.V384I	IL16_ENST00000302987.4_Missense_Mutation_p.V384I	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	384	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.V384I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGGCATTTTCGTCCACACGCT	0.597													34	123					0	0	0	0	A	81575048	G	A	81575048	3	1	360	1	0	0	0	0	1	0	0	0	7686	1145	40	1	1180	1	IL16	15	81575048	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	6074014	81575048	20956344	202	68562											
BNC1	646	broad.mit.edu	37	chr15	83926268	83926268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtgtctgtttcgactgcGaacagacgaaaacatggtgt	10	11	12	8	3	1	1	0	0	1	1	2	4	1	1	0	1	3	2	0	1	3	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:83926268G>A	ENST00000345382.2	-	5	2996	c.2911C>T	c.(2911-2913)Cgc>Tgc	p.R971C	BNC1_ENST00000569704.1_Missense_Mutation_p.R964C|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	971					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTTCGACTGCGAACAGACGAA	0.507													59	45					0	0	0	0	A	83926268	G	A	83926268	3	1	360	1	0	0	0	0	1	0	0	0	1479	1058	37	1	77	1	BNC1	15	83926268	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	2351220	83926268	18605124	203	68563											
AKAP13	11214	broad.mit.edu	37	chr15	86286764	86286764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatgaggatcccatcgttCttccccagtcctgaggagcc	7	10	10	14	1	1	3	0	3	1	0	5	5	4	5	5	2	1	1	5	2	0	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:86286764C>G	ENST00000394518.2	+	36	8195	c.8100C>G	c.(8098-8100)ttC>ttG	p.F2700L	AKAP13_ENST00000394510.2_Missense_Mutation_p.F945L|AKAP13_ENST00000361243.2_Missense_Mutation_p.F2704L|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2700	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCCCATCGTTCTTCCCCAGTC	0.517													8	58					0	0	0	0	G	86286764	C	G	86286764	3	3	360	1	0	0	0	0	1	0	0	0	449	912	32	2	8308	2	AKAP13	15	86286764	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	2360496	86286764	16244628	204	68564											
CLCN7	1186	broad.mit.edu	37	chr16	1498432	1498432	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcagcacgtccacaatgAcgccgaccttctcacgccgc	8	6	8	19	6	2	1	2	1	1	0	4	2	3	1	4	0	1	2	4	0	1	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:1498432A>T	ENST00000382745.4	-	21	2542	c.1937T>A	c.(1936-1938)gTc>gAc	p.V646D	CLCN7_ENST00000448525.1_Missense_Mutation_p.V622D|CLCN7_ENST00000262318.8_Missense_Mutation_p.V622D	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	646	CBS 1.					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GTCCACAATGACGCCGACCTT	0.652													12	24					0	0	0	0	T	1498432	A	T	1498432	3	4	360	1	0	0	0	0	1	0	0	0	3498	275	10	5	500	5	CLCN7	16	1498432	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08		1498432	88856321	205	68565											
NTN3	4917	broad.mit.edu	37	chr16	2522335	2522335	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggacagcagcccagtgctCcaagactgggtgaccgccac	9	5	12	15	1	0	2	0	1	0	1	1	3	1	3	4	2	3	2	4	2	1	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:2522335C>G	ENST00000293973.1	+	1	836	c.633C>G	c.(631-633)ctC>ctG	p.L211L		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	211	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GCCCAGTGCTCCAAGACTGGG	0.672													4	22					0	0	0	0	G	2522335	C	G	2522335	2	3	360	1	0	0	0	0	0	0	0	1	10772	842	30	2		2	NTN3	16	2522335	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	1023903	2522335	87832418	206	68566											
IQCK	124152	broad.mit.edu	37	chr16	19838428	19838428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcacattcaccagcaagtCaaaattttctgggccaagca	15	8	7	11	0	3	0	2	0	1	0	3	0	3	0	2	1	3	3	2	1	5	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:19838428C>T	ENST00000541926.1	+	7	708	c.686C>T	c.(685-687)tCa>tTa	p.229_229insL	IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000433597.2_Silent_p.V169V|IQCK_ENST00000320394.6_Silent_p.V257V|IQCK_ENST00000564186.1_Silent_p.V257V			Q8N0W5	IQCK_HUMAN	IQ motif containing K	0										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						ACCAGCAAGTCAAAATTTTCT	0.443													7	40					0	0	0	0	T	19838428	C	T	19838428	3	4	360	1	0	0	0	0	1	0	0	0	7866	813	29	2	801	2	IQCK	16	19838428	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	17316093	19838428	70516325	207	68567											
LCMT1	51451	broad.mit.edu	37	chr16	25175987	25175987	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagtccgcaaacctccTgaagtgggcagccaacagtt	12	6	11	12	1	0	2	0	1	0	1	2	2	2	2	4	1	4	4	4	1	3	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:25175987T>A	ENST00000399069.3	+	7	793	c.638T>A	c.(637-639)cTg>cAg	p.L213Q	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.L158Q	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	213							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GCAAACCTCCTGAAGTGGGCA	0.448													9	44					0	0	0	0	A	25175987	T	A	25175987	3	1	360	1	0	0	0	0	1	0	0	0	8731	1580	55	5	664	5	LCMT1	16	25175987	Missense_Mutation	SNP	T	TCGA-CX-7086-01A-11D-2078-08	5337559	25175987	65178766	208	68568											
IL4R	3566	broad.mit.edu	37	chr16	27363876	27363876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagttcagaatctataacGtgacctacctagaaccctcc	13	9	5	14	1	2	3	1	1	1	2	3	3	3	3	5	0	3	1	5	0	6	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:27363876G>A	ENST00000395762.2	+	7	788	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	IL4R_ENST00000449195.1_Missense_Mutation_p.V177M|IL4R_ENST00000170630.2_Missense_Mutation_p.V177M|IL4R_ENST00000543915.2_Missense_Mutation_p.V177M|IL4R_ENST00000380922.3_Missense_Mutation_p.V162M	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	177	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AATCTATAACGTGACCTACCT	0.592													18	60					0	0	0	0	A	27363876	G	A	27363876	3	1	360	1	0	0	0	0	1	0	0	0	7751	1145	40	1	547	1	IL4R	16	27363876	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	2187889	27363876	62990877	209	68569											
ATXN2L	11273	broad.mit.edu	37	chr16	28847379	28847379	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccaaggcgcggtgccccaGagtggggtgcctgcactctc	5	6	14	16	2	1	1	0	0	1	1	2	1	1	1	5	4	3	1	5	4	1	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:28847379G>A	ENST00000336783.4	+	22	3188	c.3021G>A	c.(3019-3021)caG>caA	p.Q1007Q	ATXN2L_ENST00000570200.1_Silent_p.Q1007Q|ATXN2L_ENST00000395547.2_Silent_p.Q1007Q|ATXN2L_ENST00000325215.6_Silent_p.Q1007Q|ATXN2L_ENST00000382686.4_Silent_p.Q1007Q|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Silent_p.Q1007Q|ATXN2L_ENST00000564304.1_Silent_p.Q1013Q	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1007						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CGGTGCCCCAGAGTGGGGTGC	0.706													23	91					0	0	0	0	A	28847379	G	A	28847379	2	1	360	1	0	0	0	0	0	0	0	1	1216	933	33	2		2	ATXN2L	16	28847379	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	1483503	28847379	61507374	210	68570											
TOX3	27324	broad.mit.edu	37	chr16	52473778	52473778	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgacactgttccatgttGagacagtggagtgttgagaa	10	12	13	6	0	0	3	0	3	0	2	1	6	1	4	1	1	1	4	1	1	1	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:52473778G>A	ENST00000219746.9	-	7	1374	c.1090C>T	c.(1090-1092)Caa>Taa	p.Q364*	TOX3_ENST00000407228.3_Nonsense_Mutation_p.Q359*	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	364					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTTCCATGTTGAGACAGTGGA	0.527													12	75					0	0	0	0	A	52473778	G	A	52473778	4	1	360	1	0	0	0	0	0	1	0	0	16474	1299	45	2	644	2	TOX3	16	52473778	Nonsense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	23626399	52473778	37880975	211	68571											
CNOT1	23019	broad.mit.edu	37	chr16	58589282	58589282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaagtgaccagtcctttctCaattataccaccaaataggc	13	11	6	11	0	1	1	1	1	1	0	3	1	2	1	4	1	1	1	4	1	6	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:58589282C>T	ENST00000317147.5	-	21	3096	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	CNOT1_ENST00000441024.2_Missense_Mutation_p.E922K|CNOT1_ENST00000569240.1_Missense_Mutation_p.E917K|CNOT1_ENST00000569732.1_5'UTR	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	922				E -> G (in Ref. 1; ABQ66268).	nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGTCCTTTCTCAATTATACCA	0.388													28	90					0	0	0	0	T	58589282	C	T	58589282	3	4	360	1	0	0	0	0	1	0	0	0	3647	835	29	2	4704	2	CNOT1	16	58589282	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	6115504	58589282	31765471	212	68572											
HSF4	3299	broad.mit.edu	37	chr16	67203679	67203679	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcccggaagccagtccCtccccctaagaccccgcgcc	6	5	10	20	3	0	1	0	0	0	1	2	2	2	2	8	2	1	0	8	2	2	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:67203679C>T	ENST00000264009.8	+	15	2435	c.1470C>T	c.(1468-1470)ccC>ccT	p.P490P	HSF4_ENST00000421453.1_Silent_p.P460P|HSF4_ENST00000584272.1_Silent_p.P460P|HSF4_ENST00000521374.1_Silent_p.P490P	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	490					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AAGCCAGTCCCTCCCCCTAAG	0.662											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	47					0	0	0	0	T	67203679	C	T	67203679	2	4	360	1	0	0	0	0	0	0	0	1	7448	668	24	4		4	HSF4	16	67203679	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	8614397	67203679	23151074	213	68573											
FAM65A	79567	broad.mit.edu	37	chr16	67574260	67574260	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggcgagtttcatctccgaAtgaaaggtactgagttgtgg	9	12	14	6	2	2	2	1	2	1	0	3	4	2	2	1	3	1	3	1	3	3	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:67574260A>G	ENST00000540839.3	+	9	905	c.685A>G	c.(685-687)Atg>Gtg	p.M229V	FAM65A_ENST00000379312.3_Missense_Mutation_p.M213V|FAM65A_ENST00000422602.2_Missense_Mutation_p.M229V|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000428437.2_Missense_Mutation_p.M223V|FAM65A_ENST00000042381.4_Missense_Mutation_p.M209V			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	213						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TCATCTCCGAATGAAAGGTAC	0.612													15	40					0	0	0	0	G	67574260	A	G	67574260	3	3	360	1	0	0	0	0	1	0	0	0	5645	101	4	5	651	5	FAM65A	16	67574260	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	370581	67574260	22780493	214	68574											
SF3B3	23450	broad.mit.edu	37	chr16	70575647	70575647	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagccatgcctctggaagaAggagacacattcttttttca	11	12	8	10	0	4	2	2	0	2	2	4	4	4	3	2	2	2	0	2	2	2	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:70575647A>G	ENST00000302516.5	+	9	1354	c.1143A>G	c.(1141-1143)gaA>gaG	p.E381E		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	381					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CTCTGGAAGAAGGAGACACAT	0.448													36	99					0	0	0	0	G	70575647	A	G	70575647	2	3	360	1	0	0	0	0	0	0	0	1	14239	69	3	5		5	SF3B3	16	70575647	Silent	SNP	A	TCGA-CX-7086-01A-11D-2078-08	3001387	70575647	19779106	215	68575											
C17orf97	400566	broad.mit.edu	37	chr17	263646	263646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcaagggcttccaccccGaccccgaggccctcaagggc	7	4	10	20	2	2	0	2	0	0	0	3	2	3	0	7	3	0	1	7	3	2	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:263646G>A	ENST00000360127.6	+	2	1028	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	368	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CTTCCACCCCGACCCCGAGGC	0.692													4	40					0	0	0	0	A	263646	G	A	263646	3	1	360	1	0	0	0	0	1	0	0	0	1909	1058	37	1		1	C17orf97	17	263646	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08		263646	80931564	216	68576											
TP53	7157	broad.mit.edu	37	chr17	7577062	7577062	+	Frame_Shift_Del	DEL	T	T	-																															agctcgtggtgaggctccccTttcttgcggagattctcttc																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:7577062delT	ENST00000420246.2	-	8	1008	c.876delA	c.(874-876)aafs	p.K292fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.K292fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.K292fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	292	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		K -> E (in sporadic cancers; somatic mutation).|K -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> I (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K291fs*48(8)|p.0?(8)|p.G293fs*13(3)|p.K292N(3)|p.?(2)|p.T284_G293del10(1)|p.L265_K305del41(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.K292K(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGCTCCCCTTTCTTGCGGA	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	20	---	---	---	---					-	7577062	T	-	7577062	7	5	360	1	0	1	0	1	0	0	0	0	16476	1606	56	0	410	0	TP53	17	7577062	Frame_Shift_Del	DEL	T	TCGA-CX-7086-01A-11D-2078-08	7313416	7577062	73618148	217	68577											
SSH2	85464	broad.mit.edu	37	chr17	27963169	27963169	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggaaaaagatcgtgaccgGgtttcttgggagagctccac	10	9	14	8	2	1	3	0	1	1	2	3	5	2	4	2	3	1	2	2	3	2	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:27963169G>A	ENST00000269033.3	-	14	2149	c.1998C>T	c.(1996-1998)acC>acT	p.T666T	SSH2_ENST00000540801.1_Silent_p.T693T|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	666					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCGTGACCGGGTTTCTTGGG	0.493													42	54					0	0	0	0	A	27963169	G	A	27963169	2	1	360	1	0	0	0	0	0	0	0	1	15275	1219	43	4		4	SSH2	17	27963169	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	20386107	27963169	53232041	218	68578											
EFCAB5	374786	broad.mit.edu	37	chr17	28296203	28296203	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttaactcaagtagaaaaGaagaaggttttgacagaagc	18	9	10	4	0	1	5	1	1	0	4	1	5	1	5	0	1	2	3	0	1	8	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:28296203G>A	ENST00000394835.3	+	4	777	c.585G>A	c.(583-585)aaG>aaA	p.K195K	EFCAB5_ENST00000320856.5_Silent_p.K195K|EFCAB5_ENST00000394832.2_Silent_p.K195K|EFCAB5_ENST00000378738.3_Silent_p.K195K|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000536908.2_Silent_p.K139K|EFCAB5_ENST00000534836.2_Intron	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	195							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGTAGAAAAGAAGAAGGTTT	0.343													7	27					0	0	0	0	A	28296203	G	A	28296203	2	1	360	1	0	0	0	0	0	0	0	1	4974	933	33	2		2	EFCAB5	17	28296203	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	333034	28296203	52899007	219	68579											
C17orf53	78995	broad.mit.edu	37	chr17	42228331	42228331	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttccctcccctcttagcaGagtgggagaagtctggagga	8	9	12	12	0	2	2	0	0	2	2	4	5	4	4	4	3	1	1	4	3	2	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:42228331G>A	ENST00000319977.4	+	4	1464	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	C17orf53_ENST00000245382.6_Intron|C17orf53_ENST00000585683.1_Silent_p.Q409Q	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	409										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCTCTTAGCAGAGTGGGAGAA	0.453													3	20					0	0	0	0	A	42228331	G	A	42228331	2	1	360	1	0	0	0	0	0	0	0	1	1877	933	33	2		2	C17orf53	17	42228331	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	13932128	42228331	38966879	220	68580											
B4GALNT2	124872	broad.mit.edu	37	chr17	47241498	47241498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaccaagactttcctccGcccccacaagctcatgatca	10	9	5	17	1	2	2	2	1	0	1	4	2	4	2	5	0	3	2	5	0	3	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:47241498G>A	ENST00000300404.2	+	8	1054	c.995G>A	c.(994-996)cGc>cAc	p.R332H	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.R272H|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.R246H	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	332					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ACTTTCCTCCGCCCCCACAAG	0.502													60	97					0	0	0	0	A	47241498	G	A	47241498	3	1	360	1	0	0	0	0	1	0	0	0	1271	1087	38	1	1043	1	B4GALNT2	17	47241498	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	5013167	47241498	33953712	221	68581											
GPR142	350383	broad.mit.edu	37	chr17	72367969	72367969	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcggatatcatcatcCaggtggtcatcgtgttcgcg	7	11	11	12	4	3	0	3	0	0	0	7	1	4	1	2	3	1	1	2	3	1	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:72367969C>T	ENST00000335666.4	+	4	667	c.619C>T	c.(619-621)Cag>Tag	p.Q207*		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	207						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TATCATCATCCAGGTGGTCAT	0.657													10	11					0	0	0	0	T	72367969	C	T	72367969	4	4	360	1	0	0	0	0	0	1	0	0	6699	595	21	4	633	4	GPR142	17	72367969	Nonsense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	25126471	72367969	8827241	222	68582											
ESCO1	114799	broad.mit.edu	37	chr18	19153946	19153946	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctcattatcactttGttcaggcactgatggctgtg	7	14	9	11	0	3	1	3	1	0	0	4	1	4	1	1	2	1	4	1	2	1	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr18:19153946G>C	ENST00000269214.5	-	4	1796	c.859C>G	c.(859-861)Caa>Gaa	p.Q287E		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	287					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTATCACTTTGTTCAGGCACT	0.423													23	59					0	0	0	0	C	19153946	G	C	19153946	3	2	360	1	0	0	0	0	1	0	0	0	5286	1386	48	4	1699	4	ESCO1	18	19153946	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08		19153946	58923302	223	68583											
UHRF1	29128	broad.mit.edu	37	chr19	4960672	4960672	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgtcttacaggactGcctggacagatcctttcggg	6	12	12	11	1	1	1	0	0	1	1	3	3	2	3	2	3	3	1	2	3	1	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:4960672G>A	ENST00000592666.1	+	0	2815							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TTACAGGACTGCCTGGACAGA	0.617													6	18					0	0	0	0	A	4960672	G	A	4960672	1	1	360	0	1	0	0	0	0	0	0	0	17063	1319	46	4		4	UHRF1	19	4960672	RNA	SNP	G	TCGA-CX-7086-01A-11D-2078-08		4960672	54168311	224	68584											
MUC16	94025	broad.mit.edu	37	chr19	9047546	9047546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aataattaggggttgtcctgGgaactgttgtgctggtgact	8	14	14	5	0	0	1	0	1	0	0	1	2	1	2	1	4	2	3	1	4	4	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:9047546G>A	ENST00000397910.4	-	5	34288	c.34085C>T	c.(34084-34086)cCc>cTc	p.P11362L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11364	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P11362L(1)|p.P6995L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTGTCCTGGGAACTGTTGT	0.488													33	149					0	0	0	0	A	9047546	G	A	9047546	3	1	360	1	0	0	0	0	1	0	0	0	10043	1232	43	4	9758	4	MUC16	19	9047546	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	4086874	9047546	50081437	225	68585											
MUC16	94025	broad.mit.edu	37	chr19	9049324	9049324	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgtgcttcaggatgggtGactaatgaggctatcgtctt	7	14	13	7	1	3	2	1	2	2	0	4	3	3	3	0	3	1	2	0	3	2	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:9049324G>A	ENST00000397910.4	-	5	32510	c.32307C>T	c.(32305-32307)gtC>gtT	p.V10769V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10771	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						CAGGATGGGTGACTAATGAGG	0.483													14	97					0	0	0	0	A	9049324	G	A	9049324	2	1	360	1	0	0	0	0	0	0	0	1	10043	1277	45	2		2	MUC16	19	9049324	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	1778	9049324	50079659	226	68586											
OR7A5	26659	broad.mit.edu	37	chr19	14938380	14938380	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagctgatgagattgcatgtAtggaagaaattatcttagag	14	12	12	3	0	1	4	0	2	1	3	1	7	1	5	0	1	2	3	0	1	5	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:14938380A>G	ENST00000322301.3	-	2	761	c.674T>C	c.(673-675)aTa>aCa	p.I225T	OR7A5_ENST00000594432.1_Missense_Mutation_p.I225T|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GATTGCATGTATGGAAGAAAT	0.443													16	62					0	0	0	0	G	14938380	A	G	14938380	3	3	360	1	0	0	0	0	1	0	0	0	11287	449	16	5	289	5	OR7A5	19	14938380	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	5889056	14938380	44190603	227	68587											
BRD4	23476	broad.mit.edu	37	chr19	15349769	15349769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgccgggcctgctccaGcgcatcctcgtcctctcggc	2	7	12	20	5	1	0	0	0	1	0	6	0	4	0	6	3	2	2	6	3	0	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:15349769G>A	ENST00000263377.2	-	19	4026	c.3805C>T	c.(3805-3807)Ctg>Ttg	p.L1269L		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1269					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCCTGCTCCAGCGCATCCTCG	0.701			T	C15orf55	lethal midline carcinoma of young people								3	7					0	0	0	0	A	15349769	G	A	15349769	2	1	360	1	0	0	0	0	0	0	0	1	1512	962	34	4		4	BRD4	19	15349769	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	411389	15349769	43779214	228	68588											
BRD4	23476	broad.mit.edu	37	chr19	15350615	15350615	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggctggggctggaccacGgaggcagcacgcagctcctg	7	4	18	12	2	0	0	0	0	0	0	1	2	1	2	2	7	2	6	2	7	0	0			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:15350615G>A	ENST00000263377.2	-	16	3521	c.3300C>T	c.(3298-3300)tcC>tcT	p.S1100S		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1100					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTGGACCACGGAGGCAGCAC	0.706			T	C15orf55	lethal midline carcinoma of young people								20	39					0	0	0	0	A	15350615	G	A	15350615	2	1	360	1	0	0	0	0	0	0	0	1	1512	1103	39	1		1	BRD4	19	15350615	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	846	15350615	43778368	229	68589											
GRAMD1A	57655	broad.mit.edu	37	chr19	35516979	35516979	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctcgctggagaagctgcaCcaaggcatcacagtctcaga	11	8	10	12	1	3	2	2	0	2	2	5	3	3	2	1	2	2	4	1	2	2	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:35516979C>T	ENST00000599564.1	+	20	2429	c.2358C>T	c.(2356-2358)caC>caT	p.H786H	GRAMD1A_ENST00000504615.2_Silent_p.H465H|GRAMD1A_ENST00000317991.5_Silent_p.H703H|GRAMD1A_ENST00000411896.2_Silent_p.H692H			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	703						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAAGCTGCACCAAGGCATCA	0.647													7	25					0	0	0	0	T	35516979	C	T	35516979	2	4	360	1	0	0	0	0	0	0	0	1	6797	506	18	4		4	GRAMD1A	19	35516979	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	20166364	35516979	23612004	230	68590											
SUPT5H	6829	broad.mit.edu	37	chr19	39957129	39957129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgctcaggtggactacGtggagcccagccagaacacc	9	5	12	15	1	1	1	1	0	0	1	1	3	1	3	4	3	5	1	4	3	2	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:39957129G>A	ENST00000599117.1	+	13	1253	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	SUPT5H_ENST00000359191.6_Missense_Mutation_p.V292M|SUPT5H_ENST00000402194.2_Missense_Mutation_p.V292M|SUPT5H_ENST00000598725.1_Missense_Mutation_p.V296M|SUPT5H_ENST00000432763.2_Missense_Mutation_p.V296M			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	296	KOW 1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTGGACTACGTGGAGCCCAG	0.592													13	26					0	0	0	0	A	39957129	G	A	39957129	3	1	360	1	0	0	0	0	1	0	0	0	15489	1145	40	1	928	1	SUPT5H	19	39957129	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	4440150	39957129	19171854	231	68591											
TOMM40	10452	broad.mit.edu	37	chr19	45395690	45395690	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgtcaagctcacagtCaacaaagggttgagtaacca	14	7	12	8	0	3	1	3	1	0	0	3	2	3	1	1	2	3	3	1	2	4	2	rs142332544	by1000genomes	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:45395690C>A	ENST00000592434.1	+	3	408	c.315C>A	c.(313-315)gtC>gtA	p.V105V	TOMM40_ENST00000426677.2_Silent_p.V105V|TOMM40_ENST00000252487.5_Silent_p.V105V|TOMM40_ENST00000405636.2_Silent_p.V105V			O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	105					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		AGCTCACAGTCAACAAAGGGT	0.552													10	59					0.00010058	0.000108291	1	0	A	45395690	C	A	45395690	2	1	360	1	0	0	0	0	0	0	0	1	16452	813	29	2		2	TOMM40	19	45395690	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	5438561	45395690	13733293	232	68592											
RELB	5971	broad.mit.edu	37	chr19	45540982	45540982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgtgggcagcaacatgttCcccaatcattaccgcgaggc	9	9	10	13	2	1	0	1	0	0	0	2	1	2	0	3	2	3	3	3	2	3	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:45540982C>T	ENST00000221452.8	+	12	1824	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	RELB_ENST00000505236.1_Silent_p.F555F|RELB_ENST00000540120.1_Silent_p.F558F	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	558						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCAACATGTTCCCCAATCATT	0.697													5	33					0	0	0	0	T	45540982	C	T	45540982	2	4	360	1	0	0	0	0	0	0	0	1	13299	854	30	2		2	RELB	19	45540982	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	145292	45540982	13588001	233	68593											
FGF21	26291	broad.mit.edu	37	chr19	49260229	49260229	+	Frame_Shift_Del	DEL	G	G	-																															ccgggagttattcaaatcttGggagtcaagacatccaggtt																										TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:49260229delG	ENST00000593756.1	+	3	854	c.282delG	c.(280-282)ttfs	p.L94fs	FGF21_ENST00000222157.3_Frame_Shift_Del_p.L94fs			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	94					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTCAAATCTTGGGAGTCAAGA	0.577													30	130	---	---	---	---					-	49260229	G	-	49260229	7	5	360	1	0	1	0	1	0	0	0	0	5895	1339	47	0	288	0	FGF21	19	49260229	Frame_Shift_Del	DEL	G	TCGA-CX-7086-01A-11D-2078-08	3719247	49260229	9868754	234	68594											
CPT1C	126129	broad.mit.edu	37	chr19	50212082	50212082	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agccccagcggctgcaatggGaccttccagaccaggtgagg	9	5	14	13	1	0	2	0	1	0	1	1	3	1	3	5	4	3	2	5	4	1	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:50212082G>C	ENST00000392518.4	+	14	1924	c.1552G>C	c.(1552-1554)Gac>Cac	p.D518H	CPT1C_ENST00000405931.2_Missense_Mutation_p.D507H|CPT1C_ENST00000323446.5_Missense_Mutation_p.D518H|CPT1C_ENST00000354199.5_Missense_Mutation_p.D518H|CPT1C_ENST00000598293.1_Missense_Mutation_p.D518H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	518					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCTGCAATGGGACCTTCCAGA	0.587													15	39					0	0	0	0	C	50212082	G	C	50212082	3	2	360	1	0	0	0	0	1	0	0	0	3863	1174	41	2	1598	2	CPT1C	19	50212082	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	951853	50212082	8916901	235	68595											
ZNF701	55762	broad.mit.edu	37	chr19	53086538	53086538	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattcatactggagagaaacGttacaagtgtaatgaatgtg	15	11	10	5	1	1	2	1	1	0	1	1	4	1	3	0	1	3	2	0	1	6	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:53086538G>C	ENST00000540331.1	+	5	1649	c.1424G>C	c.(1423-1425)cGt>cCt	p.R475P	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.R409P|ZNF701_ENST00000301093.2_Missense_Mutation_p.R475P	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GGAGAGAAACGTTACAAGTGT	0.373													5	41					0	0	0	0	C	53086538	G	C	53086538	3	2	360	1	0	0	0	0	1	0	0	0	18200	1145	40	3	1438	3	ZNF701	19	53086538	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	2874456	53086538	6042445	236	68596											
ZNF83	55769	broad.mit.edu	37	chr19	53116465	53116465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaggtttctctccagtGtgaattttccgatgatgtgc	8	16	10	7	1	1	3	0	3	1	0	4	4	3	3	2	1	1	1	2	1	2	4			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:53116465G>T	ENST00000597597.1	-	2	3606	c.1353C>A	c.(1351-1353)caC>caA	p.H451Q	ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.H451Q|ZNF83_ENST00000541777.2_Missense_Mutation_p.H451Q|ZNF83_ENST00000536937.1_Missense_Mutation_p.H451Q|ZNF83_ENST00000391789.4_Missense_Mutation_p.H423Q|ZNF83_ENST00000545872.1_Missense_Mutation_p.H451Q|ZNF83_ENST00000301096.3_Missense_Mutation_p.H451Q			P51522	ZNF83_HUMAN	zinc finger protein 83	451						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTGTGAATTTTCC	0.388													19	64					7.45023e-12	8.75063e-12	1	0	T	53116465	G	T	53116465	3	4	360	1	0	0	0	0	1	0	0	0	18276	1368	48	4	201	4	ZNF83	19	53116465	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	29927	53116465	6012518	237	68597											
ZNF761	388561	broad.mit.edu	37	chr19	53950475	53950475	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctaaagactcttggtacGtgaggaagaaacccggaaga	14	8	11	8	2	2	4	0	1	2	3	2	6	2	6	1	3	2	1	1	3	6	4	rs8111707	by1000genomes	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:53950475G>T	ENST00000454407.1	+	0	407							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CTCTTGGTACGTGAGGAAGAA	0.438													3	45					0.004672	0.00486792	1	0	T	53950475	G	T	53950475	1	4	360	0	1	0	0	0	0	0	0	0	18230	1160	40	3		3	ZNF761	19	53950475	RNA	SNP	G	TCGA-CX-7086-01A-11D-2078-08	834010	53950475	5178508	238	68598											
PRKCG	5582	broad.mit.edu	37	chr19	54392993	54392993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcttgtgcaccagggcatGaaatgctcctgtgagtgacc	8	9	14	10	0	0	3	0	3	0	0	1	3	1	3	3	2	2	4	3	2	1	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:54392993G>C	ENST00000263431.3	+	4	669	c.387G>C	c.(385-387)atG>atC	p.M129I	PRKCG_ENST00000540413.1_Missense_Mutation_p.M129I|PRKCG_ENST00000536044.1_Missense_Mutation_p.M129I|PRKCG_ENST00000542049.1_Intron	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	129					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACCAGGGCATGAAATGCTCCT	0.632													4	23					0	0	0	0	C	54392993	G	C	54392993	3	2	360	1	0	0	0	0	1	0	0	0	12592	1290	45	2	401	2	PRKCG	19	54392993	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	442518	54392993	4735990	239	68599											
FCAR	2204	broad.mit.edu	37	chr19	55401062	55401062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttgatccgcatggccGtggcaggactggtcctcgtg	7	9	14	11	3	0	2	0	1	0	1	3	3	2	3	3	4	1	2	3	4	1	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:55401062G>A	ENST00000355524.3	+	5	707	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	FCAR_ENST00000359272.4_Missense_Mutation_p.V221M|FCAR_ENST00000353758.4_Missense_Mutation_p.V124M|FCAR_ENST00000391724.3_Missense_Mutation_p.V199M|FCAR_ENST00000345937.4_Missense_Mutation_p.V137M|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391723.3_Missense_Mutation_p.R196H|FCAR_ENST00000391725.3_Missense_Mutation_p.V211M|FCAR_ENST00000391726.3_Missense_Mutation_p.V125M	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	233					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCGCATGGCCGTGGCAGGACT	0.527													47	186					0	0	0	0	A	55401062	G	A	55401062	3	1	360	1	0	0	0	0	1	0	0	0	5818	1145	40	1	786	1	FCAR	19	55401062	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	1008069	55401062	3727921	240	68600											
NLRP7	199713	broad.mit.edu	37	chr19	55447788	55447788	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacgcggtgtcaggggtgAcgtttttaatcctagggaaa	9	11	15	6	3	1	1	1	1	0	0	2	2	2	2	1	5	1	2	1	5	4	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:55447788A>G	ENST00000588756.1	-	8	2627	c.2141T>C	c.(2140-2142)gTc>gCc	p.V714A	NLRP7_ENST00000328092.5_Missense_Mutation_p.V686A|NLRP7_ENST00000592784.1_Missense_Mutation_p.V714A|NLRP7_ENST00000590030.1_Missense_Mutation_p.V714A|NLRP7_ENST00000448121.2_Missense_Mutation_p.V686A|NLRP7_ENST00000446217.1_Missense_Mutation_p.V742A|NLRP7_ENST00000340844.2_Missense_Mutation_p.V714A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	714							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)		GTCAGGGGTGACGTTTTTAAT	0.483													6	14					0	0	0	0	G	55447788	A	G	55447788	3	3	360	1	0	0	0	0	1	0	0	0	10552	275	10	5	996	5	NLRP7	19	55447788	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	46726	55447788	3681195	241	68601											
ZNF324B	388569	broad.mit.edu	37	chr19	58967773	58967773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtgcacgcagtgtggcCgcgccttccgtgagcgccct	3	9	14	15	6	0	1	0	1	0	0	2	1	1	1	4	1	2	2	4	1	0	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:58967773C>T	ENST00000391696.1	+	3	2364	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	ZNF324B_ENST00000336614.4_Missense_Mutation_p.R488C|ZNF324B_ENST00000545523.1_Missense_Mutation_p.R488C			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAGTGTGGCCGCGCCTTCCG	0.662													7	43					0	0	0	0	T	58967773	C	T	58967773	3	4	360	1	0	0	0	0	1	0	0	0	17940	652	23	1	1472	1	ZNF324B	19	58967773	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	3519985	58967773	161210	242	68602											
PLCB1	23236	broad.mit.edu	37	chr20	8639216	8639216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaccatatcttaccgttGatcagatgatggattttatc	12	14	7	8	1	2	3	1	2	1	1	3	4	2	4	2	1	2	2	2	1	4	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:8639216G>T	ENST00000378641.3	+	9	1202	c.727G>T	c.(727-729)Gat>Tat	p.D243Y	PLCB1_ENST00000378637.2_Missense_Mutation_p.D243Y|PLCB1_ENST00000338037.6_Missense_Mutation_p.D243Y	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	243					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCTTACCGTTGATCAGATGAT	0.318													13	52					1.49906e-05	1.62482e-05	1	0	T	8639216	G	T	8639216	3	4	360	1	0	0	0	0	1	0	0	0	12099	1290	45	2	761	2	PLCB1	20	8639216	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08		8639216	54386304	243	68603											
SEL1L2	80343	broad.mit.edu	37	chr20	13839917	13839917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaattacctttgtgatGcctaagccgtgttcatacat	12	13	7	9	1	1	1	1	1	0	0	1	1	1	1	3	0	5	2	3	0	5	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:13839917G>A	ENST00000284951.5	-	18	1883	c.1809C>T	c.(1807-1809)ggC>ggT	p.G603G	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	603						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CCTTTGTGATGCCTAAGCCGT	0.393													11	12					0	0	0	0	A	13839917	G	A	13839917	2	1	360	1	0	0	0	0	0	0	0	1	14098	1306	46	4		4	SEL1L2	20	13839917	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	5200701	13839917	49185603	244	68604											
FAM83C	128876	broad.mit.edu	37	chr20	33876280	33876280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacctgtaactgcccgccaCcacttgctcacagtcaatga	10	9	6	16	1	3	1	3	1	0	0	3	1	3	1	4	0	3	2	4	0	2	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:33876280C>A	ENST00000374408.3	-	3	886	c.790G>T	c.(790-792)Gtg>Ttg	p.V264L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	264										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTGCCCGCCACCACTTGCTCA	0.632													6	56					0.000157383	0.00016722	1	0	A	33876280	C	A	33876280	3	1	360	1	0	0	0	0	1	0	0	0	5681	507	18	4	1461	4	FAM83C	20	33876280	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	20036363	33876280	29149240	245	68605											
ACTR5	79913	broad.mit.edu	37	chr20	37396229	37396229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagatgagacccttccggtCttcttttcaggtactgattg	7	14	11	9	1	3	3	1	2	2	2	4	5	4	3	2	3	1	1	2	3	1	6			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:37396229C>T	ENST00000243903.4	+	8	1593	c.1556C>T	c.(1555-1557)tCt>tTt	p.S519F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	519					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CCCTTCCGGTCTTCTTTTCAG	0.413													7	55					0	0	0	0	T	37396229	C	T	37396229	3	4	360	1	0	0	0	0	1	0	0	0	215	913	32	2	1586	2	ACTR5	20	37396229	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	3519949	37396229	25629291	246	68606											
SNX21	90203	broad.mit.edu	37	chr20	44469390	44469390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacctgcagcggcaattccGgggcccaatggctgccatct	9	7	11	14	2	1	0	0	0	1	0	2	0	2	0	4	4	4	3	4	4	3	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:44469390G>A	ENST00000372542.1	+	3	845	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Missense_Mutation_p.R187Q|SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000491381.1_Missense_Mutation_p.R187Q			Q969T3	SNX21_HUMAN	sorting nexin family member 21	187	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	p.R187L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CGGCAATTCCGGGGCCCAATG	0.627													31	65					0	0	0	0	A	44469390	G	A	44469390	3	1	360	1	0	0	0	0	1	0	0	0	14981	1116	39	1	589	1	SNX21	20	44469390	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	7073161	44469390	18556130	247	68607											
NCOA5	57727	broad.mit.edu	37	chr20	44692044	44692044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcagccgctccttccgctCtcgcaggtagttgatgatct	6	12	9	14	3	3	2	1	2	2	0	6	2	5	2	3	1	1	5	3	1	1	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:44692044C>T	ENST00000290231.6	-	7	1269	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TCCTTCCGCTCTCGCAGGTAG	0.577													5	40					0	0	0	0	T	44692044	C	T	44692044	3	4	360	1	0	0	0	0	1	0	0	0	10302	922	32	2	642	2	NCOA5	20	44692044	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	222654	44692044	18333476	248	68608											
DPM1	8813	broad.mit.edu	37	chr20	49562395	49562395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacttacatggtgtgagaGatcagcatccataataatga	15	10	8	8	0	1	3	1	2	0	1	2	4	2	3	2	1	2	1	2	1	3	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:49562395G>A	ENST00000371582.4	-	4	392	c.361C>T	c.(361-363)Ctc>Ttc	p.L121F	DPM1_ENST00000371583.5_Missense_Mutation_p.L121F|DPM1_ENST00000371588.5_Missense_Mutation_p.L121F|DPM1_ENST00000466152.1_5'UTR			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	121					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TGGTGTGAGAGATCAGCATCC	0.323													32	43					0	0	0	0	A	49562395	G	A	49562395	3	1	360	1	0	0	0	0	1	0	0	0	4760	942	33	2	445	2	DPM1	20	49562395	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	4870351	49562395	13463125	249	68609											
BAGE2	85319	broad.mit.edu	37	chr21	11058206	11058206	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggacaaagcaggaagaTgtgactgaaatcctgaaagg	15	8	12	6	0	1	4	0	3	1	1	2	6	2	6	1	3	1	1	1	3	4	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr21:11058206T>C	ENST00000470054.1	-	0	441									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGCAGGAAGATGTGACTGAAA	0.408													3	55					0	0	0	0	C	11058206	T	C	11058206	1	2	360	0	1	0	0	0	0	0	0	0	1296	1451	51	5		5	BAGE2	21	11058206	RNA	SNP	T	TCGA-CX-7086-01A-11D-2078-08		11058206	37071689	250	68610											
BRWD1	54014	broad.mit.edu	37	chr21	40572223	40572223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccactgcgtgaggaggattCacgagctctggaactctctt	8	10	11	12	2	3	1	1	1	2	0	4	5	3	4	1	3	3	1	1	3	1	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr21:40572223C>T	ENST00000342449.3	-	39	4753	c.4675G>A	c.(4675-4677)Gaa>Aaa	p.E1559K	BRWD1_ENST00000380800.3_Missense_Mutation_p.E1559K|BRWD1_ENST00000333229.2_Missense_Mutation_p.E1559K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAGGAGGATTCACGAGCTCTG	0.443													15	28					0	0	0	0	T	40572223	C	T	40572223	3	4	360	1	0	0	0	0	1	0	0	0	1533	835	29	2	2542	2	BRWD1	21	40572223	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	29514017	40572223	7557672	251	68611											
TSSK2	23617	broad.mit.edu	37	chr22	19118919	19118919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgctcctggcaccatggacGatgccacagtcctaaggaag	10	7	11	13	2	0	0	0	0	0	0	3	3	2	2	4	3	1	2	4	3	2	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:19118919G>A	ENST00000399635.2	+	1	599	c.7G>A	c.(7-9)Gat>Aat	p.D3N	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	3					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CACCATGGACGATGCCACAGT	0.562													6	13					0	0	0	0	A	19118919	G	A	19118919	3	1	360	1	0	0	0	0	1	0	0	0	16764	1058	37	1	9	1	TSSK2	22	19118919	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08		19118919	32185647	252	68612											
PES1	23481	broad.mit.edu	37	chr22	30983347	30983347	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctacagtgttccactcgctCttcccataagccttccggag	7	12	7	15	2	2	0	0	0	2	0	6	1	5	1	4	1	2	2	4	1	2	5			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:30983347C>G	ENST00000354694.6	-	4	400	c.294G>C	c.(292-294)aaG>aaC	p.K98N	PES1_ENST00000405677.1_5'UTR|PES1_ENST00000402284.3_Missense_Mutation_p.K98N|PES1_ENST00000335214.6_Missense_Mutation_p.K98N|PES1_ENST00000402281.1_5'UTR	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	98	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TCCACTCGCTCTTCCCATAAG	0.507													13	55					0	0	0	0	G	30983347	C	G	30983347	3	3	360	1	0	0	0	0	1	0	0	0	11804	912	32	2	1520	2	PES1	22	30983347	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	11864428	30983347	20321219	253	68613											
NPTXR	23467	broad.mit.edu	37	chr22	39218697	39218697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caccaacttgtcttcccaggGaaggacgttgcccagcagtg	9	8	11	13	1	1	0	0	0	1	0	2	2	2	2	3	2	3	2	3	2	2	3			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:39218697G>A	ENST00000333039.2	-	5	1543	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	474	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TCTTCCCAGGGAAGGACGTTG	0.617													6	17					0	0	0	0	A	39218697	G	A	39218697	3	1	360	1	0	0	0	0	1	0	0	0	10675	1174	41	2	86	2	NPTXR	22	39218697	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	8235350	39218697	12085869	254	68614											
MCHR1	2847	broad.mit.edu	37	chr22	41077104	41077104	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggtgcaacaacgtcccCgacatcttcatcatcaacct	11	9	5	16	2	4	0	3	0	1	0	5	1	5	0	3	1	4	1	3	1	3	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:41077104C>A	ENST00000249016.4	+	2	1137	c.441C>A	c.(439-441)ccC>ccA	p.P147P	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Silent_p.P147P	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	147					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						ACAACGTCCCCGACATCTTCA	0.562													14	54					0.000151284	0.000162342	1	0	A	41077104	C	A	41077104	2	1	360	1	0	0	0	0	0	0	0	1	9451	639	23	3		3	MCHR1	22	41077104	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	1858407	41077104	10227462	255	68615											
ATXN10	25814	broad.mit.edu	37	chr22	46088947	46088947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgcgagtggaacaggaatCtctgttgacaggtagcatgc	11	9	13	8	1	1	1	0	1	1	0	2	4	1	3	0	3	4	3	0	3	3	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:46088947C>G	ENST00000252934.5	+	3	645	c.380C>G	c.(379-381)tCt>tGt	p.S127C	ATXN10_ENST00000381061.4_Missense_Mutation_p.S63C|ATXN10_ENST00000498009.1_3'UTR	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	127					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		p.S127C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GAACAGGAATCTCTGTTGACA	0.333													8	27					0	0	0	0	G	46088947	C	G	46088947	3	3	360	1	0	0	0	0	1	0	0	0	1214	913	32	2	390	2	ATXN10	22	46088947	Missense_Mutation	SNP	C	TCGA-CX-7086-01A-11D-2078-08	5011843	46088947	5215619	256	68616											
MLC1	23209	broad.mit.edu	37	chr22	50500013	50500013	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtttccgcgtctgggggtCactgggccatttgcaccacg	4	10	14	13	4	2	0	1	0	1	0	3	0	3	0	3	4	1	2	3	4	0	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:50500013C>T	ENST00000311597.5	-	12	1739	c.1133G>A	c.(1132-1134)tGa>tAa	p.*378*	MLC1_ENST00000538737.1_Silent_p.*344*|MLC1_ENST00000450140.2_Silent_p.*326*|MLC1_ENST00000395876.2_Silent_p.*378*|MLC1_ENST00000535444.1_Silent_p.*299*|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000431262.2_Silent_p.*348*	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	0						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GTCTGGGGGTCACTGGGCCAT	0.607													10	37					0	0	0	0	T	50500013	C	T	50500013	2	4	360	1	0	0	0	0	0	0	0	1	9681	837	29	2		2	MLC1	22	50500013	Silent	SNP	C	TCGA-CX-7086-01A-11D-2078-08	4411066	50500013	804553	257	68617											
DDX53	168400	broad.mit.edu	37	chrX	23018798	23018798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacataacgtgtgatgacttGaaaagtggtgaaaagcgtct	15	10	11	5	2	1	4	0	4	1	0	1	4	1	4	0	1	3	0	0	1	6	2			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:23018798G>C	ENST00000327968.5	+	1	712	c.624G>C	c.(622-624)ttG>ttC	p.L208F	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	208						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GTGATGACTTGAAAAGTGGTG	0.378													15	14					0	0	0	0	C	23018798	G	C	23018798	3	2	360	1	0	0	0	0	1	0	0	0	4403	1281	45	2	626	2	DDX53	23	23018798	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08		23018798	132251762	258	68618											
CYLC1	1538	broad.mit.edu	37	chrX	83128670	83128670	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagttaagaaaaatgtcaaGaaagatgacaagaaaaagga	25	5	9	2	0	1	5	1	1	0	4	1	6	1	6	0	1	0	1	0	1	9	1			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:83128670G>A	ENST00000329312.4	+	4	991	c.954G>A	c.(952-954)aaG>aaA	p.K318K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	318					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAAATGTCAAGAAAGATGACA	0.353													22	6					0	0	0	0	A	83128670	G	A	83128670	2	1	360	1	0	0	0	0	0	0	0	1	4173	933	33	2		2	CYLC1	23	83128670	Silent	SNP	G	TCGA-CX-7086-01A-11D-2078-08	60109872	83128670	72141890	259	68619											
TBC1D8B	54885	broad.mit.edu	37	chrX	106097447	106097447	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatatggtaatattcgctAtgaagatatacatagtatgc	16	13	8	4	1	0	2	0	1	0	1	1	3	0	2	0	1	2	3	0	1	10	9			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:106097447A>G	ENST00000357242.5	+	14	2447	c.2273A>G	c.(2272-2274)tAt>tGt	p.Y758C	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y752C	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	758						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATATTCGCTATGAAGATATA	0.353													25	6					0	0	0	0	G	106097447	A	G	106097447	3	3	360	1	0	0	0	0	1	0	0	0	15720	449	16	5	2393	5	TBC1D8B	23	106097447	Missense_Mutation	SNP	A	TCGA-CX-7086-01A-11D-2078-08	22968777	106097447	49173113	260	68620											
ACSL4	2182	broad.mit.edu	37	chrX	108912328	108912328	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtaatcataccctatcttGaacagagttttctgaatata	13	16	5	7	0	3	3	1	2	2	1	3	3	3	3	1	0	2	2	1	0	7	9			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:108912328G>C	ENST00000340800.2	-	11	1704	c.1200C>G	c.(1198-1200)ttC>ttG	p.F400L	ACSL4_ENST00000348502.6_Missense_Mutation_p.F359L|ACSL4_ENST00000469796.2_Missense_Mutation_p.F400L	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	400					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	ACCCTATCTTGAACAGAGTTT	0.323													14	33					0	0	0	0	C	108912328	G	C	108912328	3	2	360	1	0	0	0	0	1	0	0	0	179	1281	45	2	963	2	ACSL4	23	108912328	Missense_Mutation	SNP	G	TCGA-CX-7086-01A-11D-2078-08	2814881	108912328	46358232	261	68621											
KLHL17	339451	broad.mit.edu	37	chr1	896822	896822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggccatgagccgcatgcGccagcgcggcctcctgtgcg	4	6	15	16	6	0	1	0	1	0	0	1	1	1	1	5	2	4	1	5	2	0	0			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:896822G>A	ENST00000338591.3	+	2	364	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	86					actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGCCGCATGCGCCAGCGCGGC	0.672													5	28					0	0	0	0	A	896822	G	A	896822	3	1	361	1	0	0	0	0	1	0	0	0	8424	1087	38	1	263	1	KLHL17	1	896822	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08		896822	248353799	1	68622											
SDF4	51150	broad.mit.edu	37	chr1	1152946	1152946	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagcttgctgcccgtgaaGaactcgctgtacttgagcac	9	9	10	13	2	0	3	0	2	0	1	1	3	0	3	2	0	6	5	2	0	3	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:1152946G>A	ENST00000360001.6	-	7	1297	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	345	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TGCCCGTGAAGAACTCGCTGT	0.682													11	57					0	0	0	0	A	1152946	G	A	1152946	2	1	361	1	0	0	0	0	0	0	0	1	14049	933	33	2		2	SDF4	1	1152946	Silent	SNP	G	TCGA-CX-7219-01A-11D-2012-08	256124	1152946	248097675	2	68623											
SDF4	51150	broad.mit.edu	37	chr1	1153119	1153119	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttccccctccgagctcCgcggccagccgcacgaagtg	5	6	11	19	5	0	0	0	0	0	0	3	2	3	0	7	1	2	2	7	1	1	1	rs144630443		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:1153119C>T	ENST00000263741.7	-	7	1270	c.978G>A	c.(976-978)gcG>gcA	p.A326A	SDF4_ENST00000360001.6_Intron	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	0	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CTCCGAGCTCCGCGGCCAGCC	0.627													23	40					0	0	0	0	T	1153119	C	T	1153119	2	4	361	1	0	0	0	0	0	0	0	1	14049	639	23	1		1	SDF4	1	1153119	Silent	SNP	C	TCGA-CX-7219-01A-11D-2012-08	173	1153119	248097502	3	68624											
ACAP3	116983	broad.mit.edu	37	chr1	1235353	1235353	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccctcccaaaggctcacCtcggctgccagcttcttcat	7	9	6	19	1	3	0	2	0	1	0	5	0	4	0	5	2	2	3	5	2	1	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:1235353C>G	ENST00000354700.5	-	8	865	c.663_splice	c.e8+1	p.E221_splice	ACAP3_ENST00000353662.3_Splice_Site_p.E179_splice	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	221					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AAAGGCTCACCTCGGCTGCCA	0.632													7	22					0	0	0	0	G	1235353	C	G	1235353	5	3	361	1	0	0	0	0	0	0	1	0	120	695	24	4	1909	4	ACAP3	1	1235353	Splice_Site	SNP	C	TCGA-CX-7219-01A-11D-2012-08	82234	1235353	248015268	4	68625											
UBE4B	10277	broad.mit.edu	37	chr1	10211518	10211518	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagtcatgtttatgaccaAccctgctgttcagccacgaa	12	10	8	11	1	2	2	2	1	0	1	2	3	2	2	3	0	3	3	3	0	4	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:10211518A>T	ENST00000377157.3	+	20	3151	c.2090A>T	c.(2089-2091)aAc>aTc	p.N697I	UBE4B_ENST00000253251.8_Missense_Mutation_p.N813I|UBE4B_ENST00000343090.6_Missense_Mutation_p.N942I	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	942					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTTATGACCAACCCTGCTGTT	0.428													15	100					0	0	0	0	T	10211518	A	T	10211518	3	4	361	1	0	0	0	0	1	0	0	0	16979	43	2	5	2907	5	UBE4B	1	10211518	Missense_Mutation	SNP	A	TCGA-CX-7219-01A-11D-2012-08	8976165	10211518	239039103	5	68626											
PGD	5226	broad.mit.edu	37	chr1	10473290	10473290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccgccctggaatacggcGtacccgtcaccctcattggt	6	10	9	16	4	3	0	2	0	1	0	4	1	3	1	4	3	2	1	4	3	3	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:10473290G>A	ENST00000538557.1	+	8	1031	c.787G>A	c.(787-789)Gta>Ata	p.V263I	PGD_ENST00000541529.1_Missense_Mutation_p.V254I|PGD_ENST00000270776.8_Missense_Mutation_p.V276I			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	276					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GGAATACGGCGTACCCGTCAC	0.542													17	33					0	0	0	0	A	10473290	G	A	10473290	3	1	361	1	0	0	0	0	1	0	0	0	11859	1145	40	1	856	1	PGD	1	10473290	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	261772	10473290	238777331	6	68627											
CAP1	10487	broad.mit.edu	37	chr1	40525772	40525772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatgtgcaggcatttgactCgctgcttgctggtcctgtgg	5	14	13	9	1	0	1	0	1	0	0	2	1	1	1	1	3	3	5	1	3	1	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:40525772C>T	ENST00000372797.3	+	3	707	c.146C>T	c.(145-147)tCg>tTg	p.S49L	CAP1_ENST00000340450.3_Missense_Mutation_p.S48L|CAP1_ENST00000372805.3_Missense_Mutation_p.S49L|CAP1_ENST00000372802.1_Missense_Mutation_p.S48L|CAP1_ENST00000372792.2_Missense_Mutation_p.S49L|CAP1_ENST00000372798.1_Missense_Mutation_p.S48L	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	49					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCATTTGACTCGCTGCTTGCT	0.463													21	49					0	0	0	0	T	40525772	C	T	40525772	3	4	361	1	0	0	0	0	1	0	0	0	2644	893	31	1	152	1	CAP1	1	40525772	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	30052482	40525772	208724849	7	68628											
PRG4	10216	broad.mit.edu	37	chr1	186275989	186275989	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcacccaccacccccaagGagcctgcacccaccaccacc	10	2	5	24	0	0	0	0	0	0	0	0	1	0	1	9	1	3	2	9	1	1	0			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:186275989G>T	ENST00000445192.2	+	7	1183	c.1138G>T	c.(1138-1140)Gag>Tag	p.E380*	PRG4_ENST00000367485.4_Nonsense_Mutation_p.E287*|PRG4_ENST00000367484.3_Nonsense_Mutation_p.E339*|PRG4_ENST00000367483.4_Nonsense_Mutation_p.E339*|PRG4_ENST00000367486.3_Nonsense_Mutation_p.E337*	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	380	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCCCAAGGAGCCTGCACC	0.642													22	101					1.10513e-12	3.13121e-12	1	0	T	186275989	G	T	186275989	4	4	361	1	0	0	0	0	0	1	0	0	12561	1175	41	2	1160	2	PRG4	1	186275989	Nonsense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	145750217	186275989	62974632	8	68629											
PTPRC	5788	broad.mit.edu	37	chr1	198719738	198719738	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttattgttatgctgacagaaCtgaaacatggagaccaggtt	13	12	10	6	0	0	4	0	2	0	2	0	5	0	4	1	2	3	3	1	2	4	4			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:198719738C>T	ENST00000367376.2	+	29	3355	c.3184C>T	c.(3184-3186)Ctg>Ttg	p.L1062L	PTPRC_ENST00000442510.2_Silent_p.L1064L|PTPRC_ENST00000352140.3_Silent_p.L1014L|PTPRC_ENST00000594404.1_Silent_p.L901L|PTPRC_ENST00000348564.6_Silent_p.L903L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1062	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCTGACAGAACTGAAACATGG	0.408													16	78					0	0	0	0	T	198719738	C	T	198719738	2	4	361	1	0	0	0	0	0	0	0	1	12879	564	20	4		4	PTPRC	1	198719738	Silent	SNP	C	TCGA-CX-7219-01A-11D-2012-08	12443749	198719738	50530883	9	68630											
DDX59	83479	broad.mit.edu	37	chr1	200635479	200635479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagatgtttcgctttacaCtccaaactacacacatcttc	13	12	4	12	1	1	2	0	0	1	2	4	2	2	2	1	0	3	2	1	0	4	5			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:200635479C>A	ENST00000447706.2	-	2	541	c.390G>T	c.(388-390)gaG>gaT	p.E130D	DDX59_ENST00000367348.3_Missense_Mutation_p.E130D|DDX59_ENST00000331314.6_Missense_Mutation_p.E130D			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	130						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TCGCTTTACACTCCAAACTAC	0.448													20	58					2.37509e-13	6.77649e-13	1	0	A	200635479	C	A	200635479	3	1	361	1	0	0	0	0	1	0	0	0	4408	564	20	4	1497	4	DDX59	1	200635479	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	1915741	200635479	48615142	10	68631											
KIF26B	55083	broad.mit.edu	37	chr1	245775205	245775205	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggactgtgatgaggacgaCcaccgcaactcacacgtgtt	11	7	11	12	3	1	2	1	2	0	0	1	5	1	4	2	2	1	2	2	2	1	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:245775205C>T	ENST00000366518.4	+	6	986	c.882C>T	c.(880-882)gaC>gaT	p.D294D	KIF26B_ENST00000407071.2_Silent_p.D675D			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	675					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATGAGGACGACCACCGCAACT	0.612													6	45					0	0	0	0	T	245775205	C	T	245775205	2	4	361	1	0	0	0	0	0	0	0	1	8346	506	18	4		4	KIF26B	1	245775205	Silent	SNP	C	TCGA-CX-7219-01A-11D-2012-08	45139726	245775205	3475416	11	68632											
SLC5A7	60482	broad.mit.edu	37	chr2	108622649	108622649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcattggggccattggaGcatcaacaggtaaatctctt	11	12	9	9	0	3	0	2	0	1	0	4	1	3	1	1	4	3	2	1	4	4	5			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:108622649G>A	ENST00000264047.2	+	7	1162	c.886G>A	c.(886-888)Gca>Aca	p.A296T	SLC5A7_ENST00000540517.1_Missense_Mutation_p.A191T|SLC5A7_ENST00000409059.1_Missense_Mutation_p.A296T	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	296					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGCCATTGGAGCATCAACAGG	0.542													23	70					0	0	0	0	A	108622649	G	A	108622649	3	1	361	1	0	0	0	0	1	0	0	0	14758	971	34	4	908	4	SLC5A7	2	108622649	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08		108622649	134576724	12	68633											
TTN	7273	broad.mit.edu	37	chr2	179434249	179434249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaacttctggtgtaggaCgaccttttataggaacaaat	13	14	8	6	1	1	0	0	0	1	0	1	3	1	2	1	3	2	1	1	3	6	7			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:179434249C>T	ENST00000589042.1	-	326	76834	c.76610G>A	c.(76609-76611)cGt>cAt	p.R25537H	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16597H|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16664H|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16472H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23896H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22969H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23896	Fibronectin type-III 86.						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)			TGGTGTAGGACGACCTTTTAT	0.393													4	42					0	0	0	0	T	179434249	C	T	179434249	3	4	361	1	0	0	0	0	1	0	0	0	16831	536	19	1	31517	1	TTN	2	179434249	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	70811600	179434249	63765124	13	68634											
TTN	7273	broad.mit.edu	37	chr2	179648932	179648932	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgtcagcgaaggggaaCtgtggcaagggtgtgggctc	7	8	20	6	1	1	0	1	0	0	0	2	2	1	1	0	6	2	2	0	6	3	0			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:179648932C>T	ENST00000589042.1	-	16	2864	c.2640G>A	c.(2638-2640)caG>caA	p.Q880Q	TTN_ENST00000359218.5_Silent_p.Q834Q|TTN_ENST00000342175.6_Silent_p.Q834Q|TTN_ENST00000460472.2_Silent_p.Q834Q|TTN_ENST00000360870.5_Silent_p.Q880Q|TTN_ENST00000591111.1_Silent_p.Q880Q|TTN_ENST00000342992.6_Silent_p.Q880Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	880							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)			CGAAGGGGAACTGTGGCAAGG	0.537													17	65					0	0	0	0	T	179648932	C	T	179648932	2	4	361	1	0	0	0	0	0	0	0	1	16831	564	20	4		4	TTN	2	179648932	Silent	SNP	C	TCGA-CX-7219-01A-11D-2012-08	214683	179648932	63550441	14	68635											
PDE1A	5136	broad.mit.edu	37	chr2	183033014	183033014	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttctgtgaactggttcttGcttctgaaaaaaaaaaaagc	15	12	7	7	0	3	2	0	2	3	0	3	2	3	2	0	1	3	2	0	1	7	4			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:183033014G>C	ENST00000351439.5	-	14	1911	c.1520C>G	c.(1519-1521)gCa>gGa	p.A507G	PDE1A_ENST00000346717.4_Intron|PDE1A_ENST00000331935.6_Intron|PDE1A_ENST00000435564.1_Intron|PDE1A_ENST00000410103.1_Missense_Mutation_p.A523G|PDE1A_ENST00000358139.2_Missense_Mutation_p.A523G|PDE1A_ENST00000536095.1_Intron|PDE1A_ENST00000409365.1_Intron	NM_001258313.1	NP_001245242.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	523	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACTGGTTCTTGCTTCTGAAAA	0.318													10	35					0	0	0	0	C	183033014	G	C	183033014	3	2	361	1	0	0	0	0	1	0	0	0	11704	1319	46	4	121	4	PDE1A	2	183033014	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	3384082	183033014	60166359	15	68636											
HECW2	57520	broad.mit.edu	37	chr2	197189757	197189757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgatagtagaccgtctctCctgcccgtggtgggcacagg	7	9	14	11	2	1	2	0	1	1	1	3	3	2	2	3	3	1	2	3	3	2	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:197189757C>T	ENST00000260983.2	-	6	870	c.688G>A	c.(688-690)Gag>Aag	p.E230K	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	230	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GACCGTCTCTCCTGCCCGTGG	0.498													62	184					0	0	0	0	T	197189757	C	T	197189757	3	4	361	1	0	0	0	0	1	0	0	0	7093	864	30	2	4126	2	HECW2	2	197189757	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	14156743	197189757	46009616	16	68637											
NDUFB3	4709	broad.mit.edu	37	chr2	201950235	201950235	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagtgtttccttttctgAtgtattctttaaaggattca	11	18	7	5	0	3	2	1	1	2	1	4	3	4	3	1	1	0	2	1	1	4	8			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:201950235A>C	ENST00000237889.4	+	3	517	c.194A>C	c.(193-195)gAt>gCt	p.D65A	NDUFB3_ENST00000454214.1_Missense_Mutation_p.D65A|NDUFB3_ENST00000433898.1_Missense_Mutation_p.D65A	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	65					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)|urinary_tract(1)	3					NADH(DB00157)	TCCTTTTCTGATGTATTCTTT	0.363													3	68					0	0	0	0	C	201950235	A	C	201950235	3	2	361	1	0	0	0	0	1	0	0	0	10352	333	12	5	200	5	NDUFB3	2	201950235	Missense_Mutation	SNP	A	TCGA-CX-7219-01A-11D-2012-08	4760478	201950235	41249138	17	68638											
NBEAL1	65065	broad.mit.edu	37	chr2	204078305	204078305	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgtgtttgtgtcaccaaaGaatacagccatattcttgta	12	15	7	7	0	2	1	1	0	1	1	2	1	2	1	2	0	2	2	2	0	5	7			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:204078305G>C	ENST00000449802.1	+	54	8245	c.7912G>C	c.(7912-7914)Gaa>Caa	p.E2638Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2638							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTCACCAAAGAATACAGCCA	0.383													35	93					0	0	0	0	C	204078305	G	C	204078305	3	2	361	1	0	0	0	0	1	0	0	0	10258	943	33	2	8122	2	NBEAL1	2	204078305	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	2128070	204078305	39121068	18	68639											
SPHKAP	80309	broad.mit.edu	37	chr2	228884679	228884679	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggctgagggatctagactCtgcaaggctgtgttctttgt	6	15	13	7	0	3	2	0	1	3	1	3	3	3	3	0	3	1	4	0	3	2	4			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:228884679C>T	ENST00000392056.3	-	7	937	c.891G>A	c.(889-891)caG>caA	p.Q297Q	SPHKAP_ENST00000344657.5_Silent_p.Q297Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	297						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GATCTAGACTCTGCAAGGCTG	0.418													60	162					0	0	0	0	T	228884679	C	T	228884679	2	4	361	1	0	0	0	0	0	0	0	1	15138	912	32	2		2	SPHKAP	2	228884679	Silent	SNP	C	TCGA-CX-7219-01A-11D-2012-08	24806374	228884679	14314694	19	68640											
PLCL2	23228	broad.mit.edu	37	chr3	17084400	17084400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggcgttgattgaaaatgCagatgctgtatatgaaaaga	16	10	11	4	1	0	5	0	3	0	2	0	5	0	5	0	1	2	4	0	1	7	4			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:17084400C>T	ENST00000418129.2	+	4	3140	c.2675C>T	c.(2674-2676)gCa>gTa	p.A892V	PLCL2_ENST00000396755.2_Missense_Mutation_p.A892V|PLCL2-AS1_ENST00000414844.2_RNA|PLCL2_ENST00000432376.1_Missense_Mutation_p.A892V	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1018					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATTGAAAATGCAGATGCTGTA	0.403													30	41					0	0	0	0	T	17084400	C	T	17084400	3	4	361	1	0	0	0	0	1	0	0	0	12112	710	25	4	3061	4	PLCL2	3	17084400	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08		17084400	180938030	20	68641											
SMARCC1	6599	broad.mit.edu	37	chr3	47703871	47703871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacgcgagggtccaccacaGatgccaaaaaagcaacagta	16	3	9	13	2	0	1	0	0	0	1	1	2	1	1	4	1	3	2	4	1	5	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:47703871G>A	ENST00000254480.5	-	20	2230	c.2111C>T	c.(2110-2112)tCt>tTt	p.S704F	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	704					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GTCCACCACAGATGCCAAAAA	0.493													9	21					0	0	0	0	A	47703871	G	A	47703871	3	1	361	1	0	0	0	0	1	0	0	0	14863	942	33	2	1242	2	SMARCC1	3	47703871	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	30619471	47703871	150318559	21	68642											
ERC2	26059	broad.mit.edu	37	chr3	56468821	56468821	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctttgggtaggttgttGaagccaccccttcatgatca	7	13	10	11	0	2	2	2	2	0	0	2	2	2	2	4	2	2	3	4	2	2	5			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:56468821G>T	ENST00000288221.6	-	2	470	c.215C>A	c.(214-216)tCa>tAa	p.S72*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	72						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTAGGTTGTTGAAGCCACCCC	0.507													46	70					6.7651e-33	2.01472e-32	1	0	T	56468821	G	T	56468821	4	4	361	1	0	0	0	0	0	1	0	0	5249	1294	45	2	2712	2	ERC2	3	56468821	Nonsense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	8764950	56468821	141553609	22	68643											
CLSTN2	64084	broad.mit.edu	37	chr3	140251315	140251315	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgcaactcacagtcggCgcttgttggcaaggtaatcc	9	9	11	12	2	1	0	1	0	0	0	3	0	2	0	2	3	2	5	2	3	3	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:140251315C>A	ENST00000458420.3	+	9	1684	c.1494C>A	c.(1492-1494)ggC>ggA	p.G498G		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	498					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCACAGTCGGCGCTTGTTGGC	0.443										HNSCC(16;0.037)			24	72					0.000117367	0.000319238	1	0	A	140251315	C	A	140251315	2	1	361	1	0	0	0	0	0	0	0	1	3592	755	27	3		3	CLSTN2	3	140251315	Silent	SNP	C	TCGA-CX-7219-01A-11D-2012-08	83782494	140251315	57771115	23	68644											
YEATS2	55689	broad.mit.edu	37	chr3	183469895	183469895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actccatcgccattctctcgGagaagactgtatctatcctc	9	12	6	14	2	2	2	0	0	2	2	8	3	4	2	3	1	0	1	3	1	3	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:183469895G>A	ENST00000305135.5	+	10	1199	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	335					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATTCTCTCGGAGAAGACTGT	0.493													49	117					0	0	0	0	A	183469895	G	A	183469895	3	1	361	1	0	0	0	0	1	0	0	0	17568	1174	41	2	1038	2	YEATS2	3	183469895	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	43218580	183469895	14552535	24	68645											
EIF4G1	1981	broad.mit.edu	37	chr3	184043328	184043328	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccattgaccagatccataagGaggctgagatggaagaacat	15	7	11	8	0	0	4	0	2	0	3	1	7	1	6	3	3	1	1	3	3	3	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:184043328G>T	ENST00000342981.4	+	19	3439	c.3025G>T	c.(3025-3027)Gag>Tag	p.E1009*	EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.E1015*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.E921*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.E968*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.E1008*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.E845*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.E813*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.E844*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.E812*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.E969*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.E1008*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.E1015*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.E1015*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.E922*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1008	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATCCATAAGGAGGCTGAGAT	0.587													48	122					5.48756e-27	1.62241e-26	1	0	T	184043328	G	T	184043328	4	4	361	1	0	0	0	0	0	1	0	0	5074	1175	41	2	3092	2	EIF4G1	3	184043328	Nonsense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	573433	184043328	13979102	25	68646											
EIF4G1	1981	broad.mit.edu	37	chr3	184045463	184045463	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaatccaaggctatcattGaggaatatctccatctcaat	15	11	6	9	0	3	2	2	1	2	1	6	3	4	3	2	2	0	1	2	2	6	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:184045463G>C	ENST00000342981.4	+	24	4168	c.3754G>C	c.(3754-3756)Gag>Cag	p.E1252Q	EIF4G1_ENST00000352767.3_Missense_Mutation_p.E1258Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E1164Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E1211Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E1251Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E1088Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E1056Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E1087Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E1055Q|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E1212Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E1251Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E1258Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E1258Q|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E1165Q	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1251	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCTATCATTGAGGAATATCT	0.557													28	74					0	0	0	0	C	184045463	G	C	184045463	3	2	361	1	0	0	0	0	1	0	0	0	5074	1291	45	2	3841	2	EIF4G1	3	184045463	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	2135	184045463	13976967	26	68647											
HRG	3273	broad.mit.edu	37	chr3	186392970	186392970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcataaactgtgaagtcttCgaccctcaggtgggttgtct	8	13	11	9	1	4	1	2	1	2	0	5	2	4	1	1	2	1	1	1	2	3	3	rs151028119		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:186392970C>T	ENST00000232003.4	+	6	812	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	244	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GTGAAGTCTTCGACCCTCAGG	0.433													28	243					0	0	0	0	T	186392970	C	T	186392970	2	4	361	1	0	0	0	0	0	0	0	1	7404	883	31	1		1	HRG	3	186392970	Silent	SNP	C	TCGA-CX-7219-01A-11D-2012-08	2347507	186392970	11629460	27	68648											
FRYL	285527	broad.mit.edu	37	chr4	48622739	48622739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgtaccagtcaaacaaGgtgcgaagtaaggaagggag	14	6	14	7	2	2	0	1	0	1	0	2	3	2	2	1	3	3	2	1	3	6	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:48622739G>A	ENST00000537810.1	-	6	835	c.231C>T	c.(229-231)acC>acT	p.T77T	FRYL_ENST00000507711.1_Silent_p.T77T|FRYL_ENST00000358350.4_Silent_p.T77T|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.T77T			O94915	FRYL_HUMAN	FRY-like	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGTCAAACAAGGTGCGAAGTA	0.398													26	48					0	0	0	0	A	48622739	G	A	48622739	2	1	361	1	0	0	0	0	0	0	0	1	6112	987	35	4		4	FRYL	4	48622739	Silent	SNP	G	TCGA-CX-7219-01A-11D-2012-08		48622739	142531537	28	68649											
HELQ	113510	broad.mit.edu	37	chr4	84352817	84352817	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatttaagaaaaatacCttcaaaccaatcaaagagag	24	7	4	6	0	2	2	2	0	0	2	2	3	2	2	2	0	2	0	2	0	10	4			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:84352817C>T	ENST00000295488.3	-	11	2457	c.2295_splice	c.e11+1	p.K765_splice	HELQ_ENST00000510985.1_Splice_Site_p.K698_splice	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	765							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGAAAAATACCTTCAAACCAA	0.289								Other identified genes with known or suspected DNA repair function					12	29					0	0	0	0	T	84352817	C	T	84352817	5	4	361	1	0	0	0	0	0	0	1	0	7097	695	24	4	1042	4	HELQ	4	84352817	Splice_Site	SNP	C	TCGA-CX-7219-01A-11D-2012-08	35730078	84352817	106801459	29	68650											
WDFY3	23001	broad.mit.edu	37	chr4	85707147	85707147	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttacctgcttagcaatggcTttgctatccaatttgttata	9	17	6	9	0	0	0	0	0	0	0	1	0	1	0	2	1	4	5	2	1	7	7			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:85707147T>C	ENST00000322366.6	-	24	4454	c.4047A>G	c.(4045-4047)aaA>aaG	p.K1349K	WDFY3_ENST00000295888.4_Silent_p.K1349K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1349						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAGCAATGGCTTTGCTATCCA	0.418													24	46					0	0	0	0	C	85707147	T	C	85707147	2	2	361	1	0	0	0	0	0	0	0	1	17366	1606	56	5		5	WDFY3	4	85707147	Silent	SNP	T	TCGA-CX-7219-01A-11D-2012-08	1354330	85707147	105447129	30	68651											
AFF1	4299	broad.mit.edu	37	chr4	87968051	87968051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactagtgtccaccaccagTccattcacactcctgcgtct	9	10	5	17	1	2	0	1	0	1	0	5	0	5	0	5	0	1	0	5	0	1	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:87968051T>C	ENST00000307808.6	+	3	763	c.343T>C	c.(343-345)Tcc>Ccc	p.S115P	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.S122P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	115						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCACCACCAGTCCATTCACAC	0.488													18	98					0	0	0	0	C	87968051	T	C	87968051	3	2	361	1	0	0	0	0	1	0	0	0	356	1667	58	5	395	5	AFF1	4	87968051	Missense_Mutation	SNP	T	TCGA-CX-7219-01A-11D-2012-08	2260904	87968051	103186225	31	68652											
SPP1	6696	broad.mit.edu	37	chr4	88903947	88903947	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgaatttcacagccatGaagatatgctggttgtagac	12	11	10	8	0	1	4	1	2	0	2	1	4	1	4	2	1	2	3	2	1	4	4			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:88903947G>T	ENST00000237623.7	+	6	950	c.802G>T	c.(802-804)Gaa>Taa	p.E268*	SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Nonsense_Mutation_p.E255*|SPP1_ENST00000395080.3_Nonsense_Mutation_p.E282*	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	282					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TCACAGCCATGAAGATATGCT	0.398													11	108					0.00185496	0.00491443	1	0	T	88903947	G	T	88903947	4	4	361	1	0	0	0	0	0	1	0	0	15176	1291	45	2	866	2	SPP1	4	88903947	Nonsense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	935896	88903947	102250329	32	68653											
ENPEP	2028	broad.mit.edu	37	chr4	111397718	111397718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgactccagcggggacggcGggccgggcactgcgccagct	5	4	18	14	5	0	1	0	1	0	0	1	2	1	2	3	5	3	2	3	5	0	0			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:111397718G>A	ENST00000265162.5	+	1	490	c.148G>A	c.(148-150)Ggg>Agg	p.G50R		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	50					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CGGGGACGGCGGGCCGGGCAC	0.642													38	108					0	0	0	0	A	111397718	G	A	111397718	3	1	361	1	0	0	0	0	1	0	0	0	5166	1116	39	1	150	1	ENPEP	4	111397718	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	22493771	111397718	79756558	33	68654											
RXFP3	51289	broad.mit.edu	37	chr5	33937017	33937017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctggggctggagttgccgGacggcgcgccgccaggacat	6	5	18	12	5	0	0	0	0	0	0	0	3	0	3	3	6	2	3	3	6	0	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:33937017G>T	ENST00000330120.3	+	1	527	c.172G>T	c.(172-174)Gac>Tac	p.D58Y		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	58						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGAGTTGCCGGACGGCGCGCC	0.687													41	59					1.15505e-17	3.34227e-17	1	0	T	33937017	G	T	33937017	3	4	361	1	0	0	0	0	1	0	0	0	13846	1174	41	2	174	2	RXFP3	5	33937017	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08		33937017	146978243	34	68655											
SKP2	6502	broad.mit.edu	37	chr5	36152987	36152987	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgggggtctccgccctGgagaaagaggagcccgacag	9	4	17	11	2	1	2	0	0	1	2	2	5	1	3	3	5	1	1	3	5	1	0			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:36152987G>C	ENST00000274255.6	+	2	319	c.123G>C	c.(121-123)ctG>ctC	p.L41L	SKP2_ENST00000546211.1_5'UTR|SKP2_ENST00000508514.1_Silent_p.L41L|SKP2_ENST00000274254.5_Silent_p.L41L	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	41					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTCCGCCCTGGAGAAAGAGG	0.592													14	43					0	0	0	0	C	36152987	G	C	36152987	2	2	361	1	0	0	0	0	0	0	0	1	14450	1335	47	4		4	SKP2	5	36152987	Silent	SNP	G	TCGA-CX-7219-01A-11D-2012-08	2215970	36152987	144762273	35	68656											
CCNB1	891	broad.mit.edu	37	chr5	68471233	68471233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttgtttcaggttgatgtcGagcaacatactttggccaaa	10	15	9	7	1	1	1	1	1	0	0	2	2	1	1	1	2	3	3	1	2	3	6			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:68471233G>A	ENST00000256442.5	+	7	1205	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	318					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GGTTGATGTCGAGCAACATAC	0.393													23	79					0	0	0	0	A	68471233	G	A	68471233	3	1	361	1	0	0	0	0	1	0	0	0	2940	1059	37	1	978	1	CCNB1	5	68471233	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	32318246	68471233	112444027	36	68657											
ERAP1	51752	broad.mit.edu	37	chr5	96121617	96121617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaatgcacaatgtaataGccattcatgcccacattaaa	15	11	5	10	1	1	0	1	0	0	0	2	0	1	0	2	0	3	3	2	0	6	5			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:96121617G>A	ENST00000296754.3	-	13	2075	c.1818C>T	c.(1816-1818)ggC>ggT	p.G606G	CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000443439.2_Silent_p.G606G|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	606					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CAATGTAATAGCCATTCATGC	0.428													30	31					0	0	0	0	A	96121617	G	A	96121617	2	1	361	1	0	0	0	0	0	0	0	1	5241	958	34	4		4	ERAP1	5	96121617	Silent	SNP	G	TCGA-CX-7219-01A-11D-2012-08	27650384	96121617	84793643	37	68658											
SEC24A	10802	broad.mit.edu	37	chr5	134033594	134033594	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgttctcttccaggttgtAtttctcggtattcagcaggt	5	18	10	8	1	3	0	1	0	2	0	6	0	4	0	1	3	1	5	1	3	2	7			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:134033594A>G	ENST00000398844.2	+	15	2401	c.2113A>G	c.(2113-2115)Att>Gtt	p.I705V		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	705					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAGGTTGTATTTCTCGGTA	0.373													47	50					0	0	0	0	G	134033594	A	G	134033594	3	3	361	1	0	0	0	0	1	0	0	0	14081	449	16	5	2171	5	SEC24A	5	134033594	Missense_Mutation	SNP	A	TCGA-CX-7219-01A-11D-2012-08	37911977	134033594	46881666	38	68659											
PCDHA10	56139	broad.mit.edu	37	chr5	140236912	140236912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagctggtggtgaccgcgCgggacgggggctcgcctccg	4	6	19	12	6	0	2	0	2	0	0	2	3	1	3	3	5	1	2	3	5	0	0			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:140236912C>T	ENST00000307360.5	+	1	1279	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R427W|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGACCGCGCGGGACGGGGG	0.647													8	209					0	0	0	0	T	140236912	C	T	140236912	3	4	361	1	0	0	0	0	1	0	0	0	11591	759	27	1	1281	1	PCDHA10	5	140236912	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	6203318	140236912	40678348	39	68660											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045674	26045674	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacagctcgcaagtctacCggcggcaaagctccgcgcaa	12	4	10	15	5	1	0	0	0	1	0	3	0	2	0	2	2	4	5	2	2	5	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:26045674C>G	ENST00000540144.1	+	1	36	c.36C>G	c.(34-36)acC>acG	p.T12T		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	12					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GCAAGTCTACCGGCGGCAAAG	0.547													16	65					0	0	0	0	G	26045674	C	G	26045674	2	3	361	1	0	0	0	0	0	0	0	1	7207	639	23	3		3	HIST1H3C	6	26045674	Silent	SNP	C	TCGA-CX-7219-01A-11D-2012-08		26045674	145069393	40	68661											
SCAND3	114821	broad.mit.edu	37	chr6	28541559	28541559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actactgtgttcagaaaaggCatgtcttttcttgacaaaaa	14	13	7	7	0	3	2	1	1	2	1	3	2	3	2	0	1	1	2	0	1	5	5			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:28541559C>G	ENST00000452236.2	-	4	2724	c.2107G>C	c.(2107-2109)Gcc>Ccc	p.A703P		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	703					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcagaaaaggcatgtcttttc	0.328													2	9					0	0	0	0	G	28541559	C	G	28541559	3	3	361	1	0	0	0	0	1	0	0	0	13962	710	25	4	1874	4	SCAND3	6	28541559	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	2495885	28541559	142573508	41	68662											
OR2H2	7932	broad.mit.edu	37	chr6	29555789	29555789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacacccagggctggaaaGgactctcttcgtggttgtcc	8	10	12	11	1	1	1	0	1	1	0	4	3	2	3	2	4	1	2	2	4	2	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:29555789G>A	ENST00000383640.2	+	1	107	c.68G>A	c.(67-69)aGg>aAg	p.R23K	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	23					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GGGCTGGAAAGGACTCTCTTC	0.557													52	150					0	0	0	0	A	29555789	G	A	29555789	3	1	361	1	0	0	0	0	1	0	0	0	11073	1000	35	4	70	4	OR2H2	6	29555789	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	1014230	29555789	141559278	42	68663											
KHDRBS2	202559	broad.mit.edu	37	chr6	62604557	62604557	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatattcttcataagcttCatgggctggaggaggaggtg	10	12	13	6	0	3	0	2	0	1	0	3	3	3	3	0	5	2	2	0	5	3	6			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:62604557C>A	ENST00000281156.4	-	6	1071	c.793G>T	c.(793-795)Gaa>Taa	p.E265*		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCATAAGCTTCATGGGCTGGA	0.478													19	63					6.44725e-10	1.81412e-09	1	0	A	62604557	C	A	62604557	4	1	361	1	0	0	0	0	0	1	0	0	8198	835	29	2	272	2	KHDRBS2	6	62604557	Nonsense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	33048768	62604557	108510510	43	68664											
IRAK1BP1	134728	broad.mit.edu	37	chr6	79607895	79607895	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaaagaagaagaaacaaaAgaatgggaaggccaaataga	24	3	10	4	0	1	5	1	0	0	5	1	6	1	6	1	2	1	0	1	2	10	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:79607895A>G	ENST00000369940.2	+	4	732	c.627A>G	c.(625-627)aaA>aaG	p.K209K	IRAK1BP1_ENST00000607739.1_Silent_p.K122K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	209					I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AAGAAACAAAAGAATGGGAAG	0.388													10	18					0	0	0	0	G	79607895	A	G	79607895	2	3	361	1	0	0	0	0	0	0	0	1	7875	69	3	5		5	IRAK1BP1	6	79607895	Silent	SNP	A	TCGA-CX-7219-01A-11D-2012-08	17003338	79607895	91507172	44	68665											
DOPEY1	23033	broad.mit.edu	37	chr6	83838721	83838721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacaatatcaagcagaccGaactgatgatattgacagag	17	9	8	7	1	1	5	1	3	0	2	1	6	1	5	1	0	3	1	1	0	7	5			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:83838721G>T	ENST00000349129.2	+	16	2095	c.1835G>T	c.(1834-1836)cGa>cTa	p.R612L	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R603L|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R593L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	612					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAAGCAGACCGAACTGATGAT	0.458													39	110					5.44703e-19	1.59884e-18	1	0	T	83838721	G	T	83838721	3	4	361	1	0	0	0	0	1	0	0	0	4743	1058	37	3	1889	3	DOPEY1	6	83838721	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	4230826	83838721	87276346	45	68666											
ASCC3	10973	broad.mit.edu	37	chr6	101054640	101054640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggaaaatccacataacGtcttgtttttccatcatagt	13	14	6	8	1	2	0	1	0	1	0	4	1	4	1	2	1	1	1	2	1	5	5	rs112466876		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:101054640G>A	ENST00000369162.2	-	32	5364	c.5020C>T	c.(5020-5022)Cgt>Tgt	p.R1674C		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1674	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCCACATAACGTCTTGTTTTT	0.308													23	63					0	0	0	0	A	101054640	G	A	101054640	3	1	361	1	0	0	0	0	1	0	0	0	1037	1145	40	1	1632	1	ASCC3	6	101054640	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	17215919	101054640	70060427	46	68667											
FERD3L	222894	broad.mit.edu	37	chr7	19184751	19184751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acctcttccgcgctcctcttCctcctcctcttctccgtccc	1	14	3	23	3	4	0	0	0	4	0	11	0	10	0	8	0	0	1	8	0	0	3	rs72265969		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:19184751C>T	ENST00000275461.3	-	1	293	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	79	Poly-Glu.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						cgctcctcttcctcctcctct	0.622													11	19					0	0	0	0	T	19184751	C	T	19184751	3	4	361	1	0	0	0	0	1	0	0	0	5861	864	30	2	269	2	FERD3L	7	19184751	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08		19184751	139953912	47	68668											
BBS9	27241	broad.mit.edu	37	chr7	33573768	33573768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaccgatgcagcagcccCacagaccatggtcatgccag	12	5	10	14	1	1	1	1	0	0	1	1	2	1	1	5	1	5	3	5	1	2	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:33573768C>T	ENST00000242067.6	+	21	3022	c.2501C>T	c.(2500-2502)cCa>cTa	p.P834L	BBS9_ENST00000350941.3_Missense_Mutation_p.P794L|BBS9_ENST00000396127.2_Missense_Mutation_p.P799L|BBS9_ENST00000355070.2_Missense_Mutation_p.P829L|BBS9_ENST00000354265.4_Missense_Mutation_p.P799L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	834					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCAGCAGCCCCACAGACCATG	0.478									Bardet-Biedl syndrome				11	40					0	0	0	0	T	33573768	C	T	33573768	3	4	361	1	0	0	0	0	1	0	0	0	1346	594	21	4	2579	4	BBS9	7	33573768	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	14389017	33573768	125564895	48	68669											
IKZF1	10320	broad.mit.edu	37	chr7	50467751	50467751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggccgagtccctgcgccCgctggtgcagacgcccccgg	3	4	17	17	5	0	1	0	0	0	1	1	2	1	1	5	4	2	2	5	4	0	0			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:50467751C>T	ENST00000331340.3	+	8	1141	c.986C>T	c.(985-987)cCg>cTg	p.P329L	IKZF1_ENST00000357364.4_Missense_Mutation_p.P242L|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Missense_Mutation_p.P287L|IKZF1_ENST00000343574.5_Missense_Mutation_p.P242L|IKZF1_ENST00000346667.4_Missense_Mutation_p.P99L|IKZF1_ENST00000359197.5_Missense_Mutation_p.P287L|IKZF1_ENST00000349824.4_Missense_Mutation_p.P186L|IKZF1_ENST00000438033.1_Missense_Mutation_p.P242L	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	329					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCCCTGCGCCCGCTGGTGCAG	0.652			"D,T"	BCL6	"ALL, DLBCL"								10	11					0	0	0	0	T	50467751	C	T	50467751	3	4	361	1	0	0	0	0	1	0	0	0	7667	652	23	1	1012	1	IKZF1	7	50467751	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	16893983	50467751	108670912	49	68670											
DDC	1644	broad.mit.edu	37	chr7	50534959	50534959	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgacttccacacagatttCaaagcggggatcctggcgca	12	8	10	11	2	1	2	1	1	0	1	3	3	3	3	2	3	1	1	2	3	2	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:50534959C>A	ENST00000444124.2	-	13	1395	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	DDC_ENST00000426377.1_Nonsense_Mutation_p.E321*|DDC_ENST00000431062.1_Nonsense_Mutation_p.E306*|DDC_ENST00000357936.5_Nonsense_Mutation_p.E399*	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	399					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ACACAGATTTCAAAGCGGGGA	0.448													42	126					6.5261e-18	1.90189e-17	1	0	A	50534959	C	A	50534959	4	1	361	1	0	0	0	0	0	1	0	0	4357	835	29	2	255	2	DDC	7	50534959	Nonsense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	67208	50534959	108603704	50	68671											
POM121L12	285877	broad.mit.edu	37	chr7	53104149	53104149	+	Frame_Shift_Del	DEL	C	C	-																															gctggtccagcccgccccatCcgccatctgggacttctggg																										TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:53104149delC	ENST00000408890.4	+	1	801	c.785delC	c.(784-786)tcfs	p.S262fs		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	262										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCGCCCCATCCGCCATCTGG	0.657													40	74	---	---	---	---					-	53104149	C	-	53104149	7	5	361	1	0	1	0	1	0	0	0	0	12313	855	30	0	787	0	POM121L12	7	53104149	Frame_Shift_Del	DEL	C	TCGA-CX-7219-01A-11D-2012-08	2569190	53104149	106034514	51	68672											
ZAN	7455	broad.mit.edu	37	chr7	100349865	100349865	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagaaaaacccaccatcTccccagaaaaacccaccatc	17	3	2	19	0	1	2	0	0	1	2	3	2	1	2	7	0	2	0	7	0	4	0			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:100349865T>C	ENST00000542585.1	+	0	2285				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCTCCCCAGAAAA	0.502													5	111					0	0	0	0	C	100349865	T	C	100349865	1	2	361	0	1	0	0	0	0	0	0	0	17609	1551	54	5		5	ZAN	7	100349865	RNA	SNP	T	TCGA-CX-7219-01A-11D-2012-08	47245716	100349865	58788798	52	68673											
LAMB1	3912	broad.mit.edu	37	chr7	107613482	107613482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagtcacatggtcgacatCcatccaaatcattgcttaag	13	10	6	12	1	2	0	2	0	0	0	5	1	4	0	2	1	1	1	2	1	2	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:107613482C>A	ENST00000393561.1	-	11	1773	c.1589G>T	c.(1588-1590)gGa>gTa	p.G530V	LAMB1_ENST00000222399.6_Missense_Mutation_p.G506V|LAMB1_ENST00000393560.1_Missense_Mutation_p.G506V			P07942	LAMB1_HUMAN	laminin, beta 1	506	Laminin EGF-like 5; truncated.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTCGACATCCATCCAAATC	0.458													32	56					2.42023e-17	6.95391e-17	1	0	A	107613482	C	A	107613482	3	1	361	1	0	0	0	0	1	0	0	0	8663	855	30	2	3931	2	LAMB1	7	107613482	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	7263617	107613482	51525181	53	68674											
C7orf60	154743	broad.mit.edu	37	chr7	112472713	112472713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catcaagtaatctgatttttCctgaggcttgtagcaaccta	11	14	7	9	0	2	2	1	2	1	0	3	2	3	2	2	1	2	4	2	1	5	6			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:112472713C>T	ENST00000297145.4	-	4	656	c.491G>A	c.(490-492)gGa>gAa	p.G164E	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	164										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TCTGATTTTTCCTGAGGCTTG	0.323													6	60					0	0	0	0	T	112472713	C	T	112472713	3	4	361	1	0	0	0	0	1	0	0	0	2430	855	30	2	734	2	C7orf60	7	112472713	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	4859231	112472713	46665950	54	68675											
CA1	759	broad.mit.edu	37	chr8	86244757	86244757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggcatcaagtactttctGcagctttgggttggcctcac	7	12	12	10	0	3	0	2	0	1	0	3	1	3	0	1	3	3	5	1	3	2	4			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr8:86244757G>T	ENST00000523953.1	-	7	1521	c.475C>A	c.(475-477)Cag>Aag	p.Q159K	CA1_ENST00000432364.2_Missense_Mutation_p.Q159K|CA1_ENST00000522389.1_Intron|CA1_ENST00000542576.1_Missense_Mutation_p.Q159K|CA1_ENST00000256119.5_Missense_Mutation_p.Q159K|CA1_ENST00000523022.1_Missense_Mutation_p.Q159K|CA1_ENST00000431316.1_Missense_Mutation_p.Q159K			P00915	CAH1_HUMAN	carbonic anhydrase I	159					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	AGTACTTTCTGCAGCTTTGGG	0.328													13	31					7.93312e-07	2.20185e-06	1	0	T	86244757	G	T	86244757	3	4	361	1	0	0	0	0	1	0	0	0	2535	1328	46	4	322	4	CA1	8	86244757	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08		86244757	60119265	55	68676											
VPS13B	157680	broad.mit.edu	37	chr8	100147948	100147948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcagaatttatcttggattCaactcatcataaggttagag	13	13	8	7	1	4	2	3	0	1	2	4	3	4	3	0	2	1	2	0	2	5	6			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr8:100147948C>T	ENST00000395996.1	+	11	1661	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	VPS13B_ENST00000357162.2_Missense_Mutation_p.S517L|VPS13B_ENST00000358544.2_Missense_Mutation_p.S517L|VPS13B_ENST00000355155.1_Missense_Mutation_p.S517L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	517					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATCTTGGATTCAACTCATCAT	0.348													6	42					0	0	0	0	T	100147948	C	T	100147948	3	4	361	1	0	0	0	0	1	0	0	0	17286	838	29	2	1630	2	VPS13B	8	100147948	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	13903191	100147948	46216074	56	68677											
DPYS	1807	broad.mit.edu	37	chr8	105463606	105463606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatggcgaaatcaataatCatggtggtgcctcctgagag	12	9	13	7	1	2	1	2	1	0	1	3	4	3	2	2	4	1	0	2	4	4	1	rs148513732	by1000genomes	TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr8:105463606C>T	ENST00000351513.2	-	2	423	c.291G>A	c.(289-291)atG>atA	p.M97I		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	97					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AATCAATAATCATGGTGGTGC	0.458													43	47					0	0	0	0	T	105463606	C	T	105463606	3	4	361	1	0	0	0	0	1	0	0	0	4782	826	29	2	1300	2	DPYS	8	105463606	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	5315658	105463606	40900416	57	68678											
WISP1	8840	broad.mit.edu	37	chr8	134233036	134233036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagtgggtatgtgaggacGacgccaagaggccacgcaag	12	4	16	9	3	0	2	0	1	0	1	0	4	0	3	2	3	1	3	2	3	3	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr8:134233036G>A	ENST00000250160.6	+	3	668	c.562G>A	c.(562-564)Gac>Aac	p.D188N	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	188					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATGTGAGGACGACGCCAAGAG	0.682													18	86					0	0	0	0	A	134233036	G	A	134233036	3	1	361	1	0	0	0	0	1	0	0	0	17468	1058	37	1	572	1	WISP1	8	134233036	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	28769430	134233036	12130986	58	68679											
PSIP1	11168	broad.mit.edu	37	chr9	15469032	15469033	+	Frame_Shift_Ins	INS	-	-	G																															agtgaagcaagttcatccaaINSggcctcaatgcatctgttca																										TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:15469032_15469033insG	ENST00000380733.4	-	13	1471_1472	c.1128_1129insC	c.(1126-1131)gctggafs	p.G377fs	PSIP1_ENST00000380738.4_Frame_Shift_Ins_p.G377fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	377					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		AGTTCATCCAAGGCCTCAATGC	0.361													17	24	---	---	---	---					G	15469033	-	G	15469032	7	5	361	1	0	1	1	0	0	0	0	0	12742	69	3	0	479	0	PSIP1	9	15469032	Frame_Shift_Ins	INS	-	TCGA-CX-7219-01A-11D-2012-08		15469032	125744399	59	68680											
NDUFB6	4712	broad.mit.edu	37	chr9	32558937	32558937	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggacttcttttcaactaTgccatatggtttttcctgta	7	19	6	9	0	3	0	1	0	2	0	4	1	4	1	2	2	2	2	2	2	4	8			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:32558937T>C	ENST00000379847.3	-	3	390	c.289A>G	c.(289-291)Ata>Gta	p.I97V	TOPORS-AS1_ENST00000425533.1_RNA|NDUFB6_ENST00000350021.2_Intron|TOPORS-AS1_ENST00000458036.1_RNA	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	97					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	TTTTCAACTATGCCATATGGT	0.313													32	115					0	0	0	0	C	32558937	T	C	32558937	3	2	361	1	0	0	0	0	1	0	0	0	10355	1464	51	5	105	5	NDUFB6	9	32558937	Missense_Mutation	SNP	T	TCGA-CX-7219-01A-11D-2012-08	17089905	32558937	108654494	60	68681											
MELK	9833	broad.mit.edu	37	chr9	36599430	36599430	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacagacatgctgtgggagtCtggcttatgcagcacctgag	9	10	13	9	0	1	2	0	1	1	1	1	3	1	3	1	2	4	4	1	2	2	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:36599430C>T	ENST00000543751.1	+	6	563	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L	MELK_ENST00000538311.1_5'UTR|MELK_ENST00000536987.1_Silent_p.L41L|MELK_ENST00000536329.1_Silent_p.L101L|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000541717.1_Silent_p.L172L|MELK_ENST00000536860.1_Silent_p.L124L|MELK_ENST00000298048.2_Silent_p.L172L|MELK_ENST00000545008.1_Silent_p.L101L	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	172	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			CTGTGGGAGTCTGGCTTATGC	0.328													14	32					0	0	0	0	T	36599430	C	T	36599430	2	4	361	1	0	0	0	0	0	0	0	1	9539	912	32	2		2	MELK	9	36599430	Silent	SNP	C	TCGA-CX-7219-01A-11D-2012-08	4040493	36599430	104614001	61	68682											
APBA1	320	broad.mit.edu	37	chr9	72131514	72131514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcgcgtgcgtccagctcggGcgcgtcccctatctcctcgt	2	10	12	17	7	1	0	0	0	1	0	7	0	3	0	4	1	2	1	4	1	1	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:72131514G>A	ENST00000265381.4	-	2	835	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	205					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCCAGCTCGGGCGCGTCCCCT	0.716													7	28					0	0	0	0	A	72131514	G	A	72131514	3	1	361	1	0	0	0	0	1	0	0	0	757	1203	42	4	1948	4	APBA1	9	72131514	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	35532084	72131514	69081917	62	68683											
LPAR1	1902	broad.mit.edu	37	chr9	113637831	113637831	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagcagaggatctgcctaAaggtggcgctcatttctttg	8	11	13	9	1	3	1	1	0	2	1	3	2	3	2	1	4	2	3	1	4	2	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:113637831A>G	ENST00000374431.3	-	5	1348	c.965T>C	c.(964-966)tTt>tCt	p.F322S	LPAR1_ENST00000358883.4_Missense_Mutation_p.F322S|LPAR1_ENST00000538760.1_Missense_Mutation_p.F323S|LPAR1_ENST00000374430.2_Missense_Mutation_p.F322S|LPAR1_ENST00000541779.1_Missense_Mutation_p.F323S	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	322					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GATCTGCCTAAAGGTGGCGCT	0.552													4	141					0	0	0	0	G	113637831	A	G	113637831	3	3	361	1	0	0	0	0	1	0	0	0	8968	14	1	5	133	5	LPAR1	9	113637831	Missense_Mutation	SNP	A	TCGA-CX-7219-01A-11D-2012-08	41506317	113637831	27575600	63	68684											
HSPA5	3309	broad.mit.edu	37	chr9	128003180	128003180	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcggccgttcttgaacacGccgacgctggcagaaaaacc	11	5	11	14	6	1	2	0	1	1	1	1	3	1	2	3	2	2	3	3	2	3	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:128003180G>C	ENST00000324460.6	-	2	332	c.129C>G	c.(127-129)ggC>ggG	p.G43G		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	43					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TCTTGAACACGCCGACGCTGG	0.632										Prostate(1;0.17)			9	114					0	0	0	0	C	128003180	G	C	128003180	2	2	361	1	0	0	0	0	0	0	0	1	7466	1074	38	3		3	HSPA5	9	128003180	Silent	SNP	G	TCGA-CX-7219-01A-11D-2012-08	14365349	128003180	13210251	64	68685											
ODF2	4957	broad.mit.edu	37	chr9	131221882	131221882	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaacggagtaacgagtctCacgcagaaaaaggtcttgag	16	6	12	7	3	2	3	1	1	2	2	3	5	2	4	0	2	2	2	0	2	5	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:131221882C>T	ENST00000434106.2	+	3	432	c.69C>T	c.(67-69)ctC>ctT	p.L23L	ODF2_ENST00000372796.4_Silent_p.L23L|ODF2_ENST00000546203.1_Silent_p.L23L|ODF2_ENST00000372814.3_Silent_p.L67L|ODF2_ENST00000448249.3_5'UTR|ODF2_ENST00000351030.3_5'UTR|ODF2_ENST00000535026.1_5'UTR|ODF2_ENST00000303890.5_5'UTR|ODF2_ENST00000393533.2_Silent_p.L23L|ODF2_ENST00000372791.3_Silent_p.L23L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	23					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TAACGAGTCTCACGCAGAAAA	0.493													9	22					0	0	0	0	T	131221882	C	T	131221882	2	4	361	1	0	0	0	0	0	0	0	1	10898	813	29	2		2	ODF2	9	131221882	Silent	SNP	C	TCGA-CX-7219-01A-11D-2012-08	3218702	131221882	9991549	65	68686											
SURF4	6836	broad.mit.edu	37	chr9	136234196	136234196	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtagccgcagttccaGgtggtgtcgatgtagtcgcg	7	9	16	9	4	0	0	0	0	0	0	3	1	1	0	2	3	2	5	2	3	2	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:136234196G>A	ENST00000371989.3	-	2	303	c.174C>T	c.(172-174)acC>acT	p.T58T	SURF4_ENST00000545297.1_Silent_p.T58T|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Silent_p.T58T|SURF4_ENST00000485435.2_Silent_p.T58T	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	58						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGCAGTTCCAGGTGGTGTCGA	0.617													25	64					0	0	0	0	A	136234196	G	A	136234196	2	1	361	1	0	0	0	0	0	0	0	1	15495	987	35	4		4	SURF4	9	136234196	Silent	SNP	G	TCGA-CX-7219-01A-11D-2012-08	5012314	136234196	4979235	66	68687											
PCDH15	65217	broad.mit.edu	37	chr10	55955493	55955493	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaaaggtgaagtcaaatTgagactgtccgaaatggttg	13	12	11	5	1	2	2	1	2	1	1	3	4	3	2	1	2	0	1	1	2	5	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr10:55955493T>G	ENST00000373965.2	-	11	1649	c.1255A>C	c.(1255-1257)Aat>Cat	p.N419H	PCDH15_ENST00000373955.1_Missense_Mutation_p.N419H|PCDH15_ENST00000414778.1_Missense_Mutation_p.N424H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.N419H|PCDH15_ENST00000373957.3_Missense_Mutation_p.N397H|PCDH15_ENST00000395438.1_Missense_Mutation_p.N419H|PCDH15_ENST00000395432.2_Missense_Mutation_p.N382H|PCDH15_ENST00000437009.1_Missense_Mutation_p.N419H|PCDH15_ENST00000395430.1_Missense_Mutation_p.N419H|PCDH15_ENST00000409834.1_Missense_Mutation_p.N23H|PCDH15_ENST00000361849.3_Missense_Mutation_p.N419H|PCDH15_ENST00000395446.1_Missense_Mutation_p.N419H|PCDH15_ENST00000395445.1_Missense_Mutation_p.N419H|PCDH15_ENST00000395433.1_Missense_Mutation_p.N397H|PCDH15_ENST00000320301.6_Missense_Mutation_p.N419H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	419	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAAGTCAAATTGAGACTGTCC	0.368										HNSCC(58;0.16)			14	43					0	0	0	0	G	55955493	T	G	55955493	3	3	361	1	0	0	0	0	1	0	0	0	11582	1812	63	5	6348	5	PCDH15	10	55955493	Missense_Mutation	SNP	T	TCGA-CX-7219-01A-11D-2012-08		55955493	79579254	67	68688											
TET1	80312	broad.mit.edu	37	chr10	70333694	70333694	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactgggtatagcccaactCtctcaggctggtcctagcaa	9	10	9	13	0	3	0	2	0	1	0	5	0	4	0	2	3	3	3	2	3	5	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr10:70333694C>T	ENST00000373644.4	+	2	1808	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	533	Sufficient for binding to genomic CpG islands.				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TAGCCCAACTCTCTCAGGCTG	0.522													11	74					0	0	0	0	T	70333694	C	T	70333694	2	4	361	1	0	0	0	0	0	0	0	1	15863	900	32	2		2	TET1	10	70333694	Silent	SNP	C	TCGA-CX-7219-01A-11D-2012-08	14378201	70333694	65201053	68	68689											
KIF20B	9585	broad.mit.edu	37	chr10	91532579	91532579	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcctattgatatatcAggccaagtggtaagctagta	12	13	8	8	0	3	1	2	1	1	0	4	1	3	1	2	2	1	3	2	2	7	7			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr10:91532579A>G	ENST00000416354.1	+	32	5538	c.5466A>G	c.(5464-5466)tcA>tcG	p.S1822S	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Silent_p.S1752S|KIF20B_ENST00000371728.3_Silent_p.S1792S			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1792					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTGATATATCAGGCCAAGTGG	0.328													3	88					0	0	0	0	G	91532579	A	G	91532579	2	3	361	1	0	0	0	0	0	0	0	1	8338	175	7	5		5	KIF20B	10	91532579	Silent	SNP	A	TCGA-CX-7219-01A-11D-2012-08	21198885	91532579	44002168	69	68690											
PDCD11	22984	broad.mit.edu	37	chr10	105179454	105179454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcaggtcttagcggactgGccccaaaagctgtaagttca	10	9	10	12	1	3	0	2	0	1	0	3	1	3	1	3	3	2	3	3	3	4	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr10:105179454G>T	ENST00000369797.3	+	16	2360	c.2266G>T	c.(2266-2268)Gcc>Tcc	p.A756S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	756	S1 motif 8.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TAGCGGACTGGCCCCAAAAGC	0.488													10	54					4.68919e-08	1.3104e-07	1	0	T	105179454	G	T	105179454	3	4	361	1	0	0	0	0	1	0	0	0	11688	1203	42	4	2324	4	PDCD11	10	105179454	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	13646875	105179454	30355293	70	68691											
PHRF1	57661	broad.mit.edu	37	chr11	605263	605263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggagctgcctctctgtctCtgtttggagatccttatgag	5	16	11	9	0	2	2	0	1	2	1	5	4	3	3	2	2	2	2	2	2	1	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:605263C>G	ENST00000264555.5	+	11	1425	c.1297C>G	c.(1297-1299)Ctg>Gtg	p.L433V	PHRF1_ENST00000416188.2_Missense_Mutation_p.L433V|PHRF1_ENST00000413872.2_Missense_Mutation_p.L432V|PHRF1_ENST00000533464.1_Missense_Mutation_p.L429V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	433							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTCTCTGTCTCTGTTTGGAGA	0.607													38	97					0	0	0	0	G	605263	C	G	605263	3	3	361	1	0	0	0	0	1	0	0	0	11933	912	32	2	1335	2	PHRF1	11	605263	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08		605263	134401253	71	68692											
BRSK2	9024	broad.mit.edu	37	chr11	1475777	1475777	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaggagcagatcttcgTggtcatcaaagacaaacctc	14	7	11	9	1	3	2	2	0	1	2	5	5	3	4	1	3	2	1	1	3	3	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:1475777T>C	ENST00000308219.9	+	16	1993	c.1607T>C	c.(1606-1608)gTg>gCg	p.V536A	BRSK2_ENST00000531197.1_Missense_Mutation_p.V536A|BRSK2_ENST00000526678.1_Missense_Mutation_p.V558A|BRSK2_ENST00000308230.5_Missense_Mutation_p.V558A|BRSK2_ENST00000528841.1_Missense_Mutation_p.V536A|BRSK2_ENST00000528710.1_Missense_Mutation_p.V476A|BRSK2_ENST00000382179.1_Missense_Mutation_p.V582A|BRSK2_ENST00000544817.1_Missense_Mutation_p.V231A	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	536					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CAGATCTTCGTGGTCATCAAA	0.602													12	41					0	0	0	0	C	1475777	T	C	1475777	3	2	361	1	0	0	0	0	1	0	0	0	1532	1696	59	5	1669	5	BRSK2	11	1475777	Missense_Mutation	SNP	T	TCGA-CX-7219-01A-11D-2012-08	870514	1475777	133530739	72	68693											
IPO7	10527	broad.mit.edu	37	chr11	9435863	9435863	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagcattttctgccagttCtaaaggatcgttttatccag	9	15	8	9	1	2	0	0	0	2	0	4	1	3	1	2	1	3	4	2	1	3	6			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:9435863C>T	ENST00000379719.3	+	5	683	c.541C>T	c.(541-543)Cta>Tta	p.L181L		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	181					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TCTGCCAGTTCTAAAGGATCG	0.388													20	60					0	0	0	0	T	9435863	C	T	9435863	2	4	361	1	0	0	0	0	0	0	0	1	7850	912	32	2		2	IPO7	11	9435863	Silent	SNP	C	TCGA-CX-7219-01A-11D-2012-08	7960086	9435863	125570653	73	68694											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159571	18159571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccccatcatttacttcttCgtgggctcctttaggcagcg	7	13	8	13	2	2	0	1	0	1	0	4	0	3	0	3	2	3	2	3	2	3	6			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:18159571C>T	ENST00000396275.2	+	3	1183	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	274						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTTACTTCTTCGTGGGCTCCT	0.512													30	89					0	0	0	0	T	18159571	C	T	18159571	2	4	361	1	0	0	0	0	0	0	0	1	9838	883	31	1		1	MRGPRX3	11	18159571	Silent	SNP	C	TCGA-CX-7219-01A-11D-2012-08	8723708	18159571	116846945	74	68695											
OR10AG1	282770	broad.mit.edu	37	chr11	55735369	55735369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacaccaccgctactacatGgactgttatctcattcacaa	14	10	4	13	1	2	0	2	0	1	0	3	1	2	1	2	1	3	2	2	1	5	4			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:55735369G>A	ENST00000312345.2	-	1	621	c.571C>T	c.(571-573)Cat>Tat	p.H191Y		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GCTACTACATGGACTGTTATC	0.398													9	36					0	0	0	0	A	55735369	G	A	55735369	3	1	361	1	0	0	0	0	1	0	0	0	10968	1348	47	4	337	4	OR10AG1	11	55735369	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	37575798	55735369	79271147	75	68696											
NDUFV1	4723	broad.mit.edu	37	chr11	67379880	67379880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggccggagctcgaggagcGgatgcagcggtttgcccagc	6	6	17	12	5	0	0	0	0	0	0	2	4	0	3	2	5	6	3	2	5	0	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:67379880G>A	ENST00000322776.6	+	10	1499	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q	NDUFV1_ENST00000415352.2_Missense_Mutation_p.R442Q|NDUFV1_ENST00000532303.1_Missense_Mutation_p.R348Q|NDUFV1_ENST00000529927.1_Missense_Mutation_p.R440Q	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	449					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	CTCGAGGAGCGGATGCAGCGG	0.632													13	31					0	0	0	0	A	67379880	G	A	67379880	3	1	361	1	0	0	0	0	1	0	0	0	10369	1116	39	1	1384	1	NDUFV1	11	67379880	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	11644511	67379880	67626636	76	68697											
TCIRG1	10312	broad.mit.edu	37	chr11	67817516	67817516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaggcagggggcctggatGatgaagaggaggccgaggtg	12	4	20	5	1	0	3	0	2	0	1	0	6	0	5	2	7	0	1	2	7	3	0			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:67817516G>A	ENST00000265686.3	+	17	2209	c.2101G>A	c.(2101-2103)Gat>Aat	p.D701N	TCIRG1_ENST00000532635.1_Missense_Mutation_p.D485N	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	701					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGGCCTGGATGATGAAGAGGA	0.672													10	27					0	0	0	0	A	67817516	G	A	67817516	3	1	361	1	0	0	0	0	1	0	0	0	15797	1290	45	2	2163	2	TCIRG1	11	67817516	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	437636	67817516	67189000	77	68698											
GDPD5	81544	broad.mit.edu	37	chr11	75152748	75152748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagccgctggatgtggcctCtccgcaggctggcgactgcc	4	8	14	15	3	2	0	1	0	1	0	3	2	2	1	4	4	2	3	4	4	0	0			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:75152748C>T	ENST00000526177.1	-	9	2732	c.854G>A	c.(853-855)aGa>aAa	p.R285K	GDPD5_ENST00000376282.3_Missense_Mutation_p.R304K|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.R178K|GDPD5_ENST00000529721.1_Missense_Mutation_p.R423K|GDPD5_ENST00000533784.1_Missense_Mutation_p.R304K|GDPD5_ENST00000336898.3_Missense_Mutation_p.R423K			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	423	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GATGTGGCCTCTCCGCAGGCT	0.672													6	13					0	0	0	0	T	75152748	C	T	75152748	3	4	361	1	0	0	0	0	1	0	0	0	6378	913	32	2	569	2	GDPD5	11	75152748	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	7335232	75152748	59853768	78	68699											
ATM	472	broad.mit.edu	37	chr11	108236053	108236053	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtgtttttgtccttagtGatattgaccagagtttcaac	8	19	8	6	0	1	3	1	2	0	1	2	3	2	3	2	0	1	2	2	0	3	7			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:108236053G>A	ENST00000278616.4	+	63	9374	c.8987_splice	c.e63-1	p.D2997_splice	ATM_ENST00000452508.2_Splice_Site_p.D2997_splice|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2997					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTCCTTAGTGATATTGACCA	0.398			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			22	33					0	0	0	0	A	108236053	G	A	108236053	5	1	361	1	0	0	0	0	0	0	1	0	1113	1304	45	2	9235	2	ATM	11	108236053	Splice_Site	SNP	G	TCGA-CX-7219-01A-11D-2012-08	33083305	108236053	26770463	79	68700											
CCDC15	80071	broad.mit.edu	37	chr11	124908467	124908467	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagaaataaaaggaaccaGagaaaaacaacagagagaaa	26	2	8	5	0	1	4	1	0	0	4	1	7	1	5	1	1	3	0	1	1	9	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:124908467G>C	ENST00000529051.1	+	14	2811	c.2552G>C	c.(2551-2553)aGa>aCa	p.R851T	CCDC15_ENST00000344762.5_Missense_Mutation_p.R851T|CCDC15_ENST00000530061.1_3'UTR			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	851						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAAGGAACCAGAGAAAAACAA	0.358													5	1					0	0	0	0	C	124908467	G	C	124908467	3	2	361	1	0	0	0	0	1	0	0	0	2809	942	33	2	2602	2	CCDC15	11	124908467	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	16672414	124908467	10098049	80	68701											
RAD51AP1	10635	broad.mit.edu	37	chr12	4657916	4657916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggaaaagaaaagcagcatCtaaagctgcagcacagcaga	19	3	11	8	0	1	2	0	0	1	2	1	3	1	3	0	1	6	6	0	1	6	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:4657916C>G	ENST00000228843.9	+	7	571	c.521C>G	c.(520-522)tCt>tGt	p.S174C	RAD51AP1_ENST00000544927.1_Missense_Mutation_p.S157C|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.S157C|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S39C|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.S174C	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	174					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AAAGCAGCATCTAAAGCTGCA	0.413													22	68					0	0	0	0	G	4657916	C	G	4657916	3	3	361	1	0	0	0	0	1	0	0	0	13068	913	32	2	547	2	RAD51AP1	12	4657916	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08		4657916	129193979	81	68702											
ANO2	57101	broad.mit.edu	37	chr12	5744499	5744499	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaccccaaagacgattgaGaatgtcagggcaatctgttt	13	10	9	9	1	3	2	2	1	1	2	3	4	3	2	2	1	0	2	2	1	3	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:5744499G>A	ENST00000327087.8	-	17	1706	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	ANO2_ENST00000356134.5_Silent_p.F546F|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000546188.1_Silent_p.F546F			Q9NQ90	ANO2_HUMAN	anoctamin 2	550						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGACGATTGAGAATGTCAGGG	0.478													10	16					0	0	0	0	A	5744499	G	A	5744499	2	1	361	1	0	0	0	0	0	0	0	1	696	933	33	2		2	ANO2	12	5744499	Silent	SNP	G	TCGA-CX-7219-01A-11D-2012-08	1086583	5744499	128107396	82	68703											
CLSTN3	9746	broad.mit.edu	37	chr12	7303242	7303242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagttccggctttcctgctCggaaatgaatggccgttact	8	12	11	10	3	0	1	0	1	0	0	3	3	2	2	3	3	2	4	3	3	4	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:7303242C>T	ENST00000537408.1	+	14	2922	c.2384C>T	c.(2383-2385)tCg>tTg	p.S795L	CLSTN3_ENST00000266546.6_Missense_Mutation_p.S783L			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	783					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTTTCCTGCTCGGAAATGAAT	0.547													44	105					0	0	0	0	T	7303242	C	T	7303242	3	4	361	1	0	0	0	0	1	0	0	0	3593	893	31	1	2406	1	CLSTN3	12	7303242	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	1558743	7303242	126548653	83	68704											
SLCO1C1	53919	broad.mit.edu	37	chr12	20893267	20893267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcacatcctatactttatcCctaggtggcatacctggata	11	13	6	11	0	1	0	1	0	0	0	3	1	3	1	3	3	2	1	3	3	6	7			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:20893267C>T	ENST00000381552.1	+	12	2066	c.1698C>T	c.(1696-1698)tcC>tcT	p.S566S	SLCO1C1_ENST00000540354.1_Silent_p.S517S|SLCO1C1_ENST00000545604.1_Silent_p.S566S|SLCO1C1_ENST00000266509.2_Silent_p.S566S|SLCO1C1_ENST00000545102.1_Silent_p.S448S			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	566					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					ATACTTTATCCCTAGGTGGCA	0.378													31	93					0	0	0	0	T	20893267	C	T	20893267	2	4	361	1	0	0	0	0	0	0	0	1	14813	610	22	4		4	SLCO1C1	12	20893267	Silent	SNP	C	TCGA-CX-7219-01A-11D-2012-08	13590025	20893267	112958628	84	68705											
DIP2B	57609	broad.mit.edu	37	chr12	51080375	51080375	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggttggccccggctcaaatgGgttgtaacagattccaagta	10	10	12	9	1	1	1	1	0	0	1	2	1	2	1	3	4	1	5	3	4	4	5			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:51080375G>A	ENST00000301180.5	+	12	1495	c.1461G>A	c.(1459-1461)tgG>tgA	p.W487*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	487						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGCTCAAATGGGTTGTAACAG	0.448													17	22					0	0	0	0	A	51080375	G	A	51080375	4	1	361	1	0	0	0	0	0	1	0	0	4565	1241	43	4	1507	4	DIP2B	12	51080375	Nonsense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	30187108	51080375	82771520	85	68706											
CS	1431	broad.mit.edu	37	chr12	56669923	56669923	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtagagatttcggtagatCtttgctgcaacacaaggtag	11	12	11	7	1	1	2	0	0	1	2	2	3	1	2	0	2	3	5	0	2	5	5			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:56669923C>G	ENST00000548567.1	-	8	917	c.447G>C	c.(445-447)aaG>aaC	p.K149N	CS_ENST00000351328.3_Missense_Mutation_p.K215N|CS_ENST00000542324.2_Missense_Mutation_p.K202N			O75390	CISY_HUMAN	citrate synthase	215					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		TTCGGTAGATCTTTGCTGCAA	0.418													21	30					0	0	0	0	G	56669923	C	G	56669923	3	3	361	1	0	0	0	0	1	0	0	0	3954	912	32	2	775	2	CS	12	56669923	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	5589548	56669923	77181972	86	68707											
LRP1	4035	broad.mit.edu	37	chr12	57548365	57548365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcaagattgtgtttcctCatggcatcacgctggacctg	9	11	10	11	1	2	1	2	0	0	1	3	2	3	2	2	2	1	4	2	2	1	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:57548365C>T	ENST00000243077.3	+	8	1574	c.1108C>T	c.(1108-1110)Cat>Tat	p.H370Y	LRP1_ENST00000554174.1_Missense_Mutation_p.H370Y	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	370					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGTTTCCTCATGGCATCAC	0.547													9	10					0	0	0	0	T	57548365	C	T	57548365	3	4	361	1	0	0	0	0	1	0	0	0	9015	826	29	2	1138	2	LRP1	12	57548365	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	878442	57548365	76303530	87	68708											
PUS1	80324	broad.mit.edu	37	chr12	132414283	132414283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgcatgggcctccagcttCgcgcgctgttgggagccttc	3	10	14	14	4	0	0	0	0	0	0	3	1	1	1	3	2	3	4	3	2	0	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:132414283C>T	ENST00000376649.3	+	1	516	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	PUS1_ENST00000440818.2_Intron|PUS1_ENST00000542167.2_Intron|PUS1_ENST00000443358.2_Intron	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	6						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCTCCAGCTTCGCGCGCTGTT	0.726													13	15					0	0	0	0	T	132414283	C	T	132414283	3	4	361	1	0	0	0	0	1	0	0	0	12912	884	31	1	18	1	PUS1	12	132414283	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	74865918	132414283	1437612	88	68709											
IFT88	8100	broad.mit.edu	37	chr13	21217595	21217595	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaactgacattgcataagaTatgaattaatggaaaatccc	17	12	6	6	0	0	3	0	2	0	1	1	4	1	4	1	1	2	1	1	1	7	5			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr13:21217595T>G	ENST00000382778.4	+	20	2829	c.1709_splice	c.e20-1	p.Y571_splice	IFT88_ENST00000537103.1_Splice_Site_p.Y543_splice|IFT88_ENST00000351808.5_Splice_Site_p.Y562_splice|IFT88_ENST00000319980.6_Splice_Site_p.Y571_splice			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	571					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TTGCATAAGATATGAATTAAT	0.323													20	16					0	0	0	0	G	21217595	T	G	21217595	5	3	361	1	0	0	0	0	0	0	1	0	7619	1420	49	5	1785	5	IFT88	13	21217595	Splice_Site	SNP	T	TCGA-CX-7219-01A-11D-2012-08		21217595	93952283	89	68710											
SEC23A	10484	broad.mit.edu	37	chr14	39565170	39565170	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttcatattgaataggtggTaagtcaggtctctctttcag	9	15	11	6	0	5	1	3	1	2	0	6	1	5	1	0	4	0	2	0	4	4	6			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:39565170T>C	ENST00000307712.6	-	2	670	c.153A>G	c.(151-153)ttA>ttG	p.L51L	SEC23A_ENST00000553970.1_Silent_p.L51L|SEC23A_ENST00000545328.2_Silent_p.L51L|SEC23A_ENST00000536508.1_Intron|SEC23A_ENST00000548032.2_Silent_p.L51L|SEC23A_ENST00000557280.1_Silent_p.L51L	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	51					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GAATAGGTGGTAAGTCAGGTC	0.413													14	50					0	0	0	0	C	39565170	T	C	39565170	2	2	361	1	0	0	0	0	0	0	0	1	14078	1635	57	5		5	SEC23A	14	39565170	Silent	SNP	T	TCGA-CX-7219-01A-11D-2012-08		39565170	67784370	90	68711											
FCF1	51077	broad.mit.edu	37	chr14	75199488	75199488	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacacacaaaggaacctaTgcagatgactgcttagtaca	15	9	8	9	0	0	2	0	1	0	1	0	3	0	3	1	1	5	4	1	1	6	4			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:75199488T>A	ENST00000341162.4	+	6	474	c.420T>A	c.(418-420)taT>taA	p.Y140*	FCF1_ENST00000553615.1_Nonsense_Mutation_p.Y125*|FCF1_ENST00000534938.2_Nonsense_Mutation_p.Y128*	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	140	PINc.				rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		AAGGAACCTATGCAGATGACT	0.343													6	76					0	0	0	0	A	75199488	T	A	75199488	4	1	361	1	0	0	0	0	0	1	0	0	5822	1471	51	5	442	5	FCF1	14	75199488	Nonsense_Mutation	SNP	T	TCGA-CX-7219-01A-11D-2012-08	35634318	75199488	32150052	91	68712											
ADSSL1	122622	broad.mit.edu	37	chr14	105207565	105207565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgccaacgccgccctcCtcgacattgacttcggtatg	7	9	11	14	4	0	1	0	1	0	0	3	2	1	1	4	2	2	1	4	2	2	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:105207565C>T	ENST00000332972.5	+	8	1066	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	ADSSL1_ENST00000330877.2_Missense_Mutation_p.L260F	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	260					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CGCCGCCCTCCTCGACATTGA	0.617													20	33					0	0	0	0	T	105207565	C	T	105207565	3	4	361	1	0	0	0	0	1	0	0	0	348	681	24	4	1133	4	ADSSL1	14	105207565	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	30008077	105207565	2141975	92	68713											
AHNAK2	113146	broad.mit.edu	37	chr14	105406529	105406529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggacctgtggccggtggaGgttcacaccctcacttcctg	5	10	13	13	1	2	0	2	0	0	0	3	2	3	2	4	5	0	1	4	5	0	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:105406529G>A	ENST00000333244.5	-	7	15378	c.15259C>T	c.(15259-15261)Ctc>Ttc	p.L5087F	AHNAK2_ENST00000557457.1_Missense_Mutation_p.L85F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5087						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCGGTGGAGGTTCACACCC	0.572													42	95					0	0	0	0	A	105406529	G	A	105406529	3	1	361	1	0	0	0	0	1	0	0	0	415	1000	35	4	2132	4	AHNAK2	14	105406529	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	198964	105406529	1943011	93	68714											
AHNAK2	113146	broad.mit.edu	37	chr14	105410194	105410194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttcatgtccacctggCgagcttggaccgtcaggtcg	6	10	14	11	3	2	0	2	0	0	0	4	3	3	2	3	4	1	2	3	4	0	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:105410194C>A	ENST00000333244.5	-	7	11713	c.11594G>T	c.(11593-11595)cGc>cTc	p.R3865L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3865						nucleus		p.R3865H(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCACCTGGCGAGCTTGGAC	0.607													82	189					9.35349e-44	2.80605e-43	1	0	A	105410194	C	A	105410194	3	1	361	1	0	0	0	0	1	0	0	0	415	768	27	3	5797	3	AHNAK2	14	105410194	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	3665	105410194	1939346	94	68715											
AHNAK2	113146	broad.mit.edu	37	chr14	105419961	105419962	+	Frame_Shift_Del	DEL	TG	TG	-																															tctccttcccttccctgctcTgtgtcttctgtggctttttc																										TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:105419961_105419962delTG	ENST00000333244.5	-	7	1945_1946	c.1826_1827delCA	c.(1825-1827)afs	p.T609fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	609						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCCCTGCTCTGTGTCTTCTGT	0.475													10	613	---	---	---	---					-	105419962	TG	-	105419961	7	5	361	1	0	1	0	1	0	0	0	0	415	1567	55	0	15564	0	AHNAK2	14	105419961	Frame_Shift_Del	DEL	TG	TCGA-CX-7219-01A-11D-2012-08	9767	105419961	1929579	95	68716											
MKRN3	7681	broad.mit.edu	37	chr15	23811447	23811447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccttgcctgtgattggctCggctgctgaaaggggtttct	4	15	13	9	1	1	2	0	2	1	0	3	2	2	2	2	4	2	4	2	4	1	4			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr15:23811447C>T	ENST00000314520.3	+	1	994	c.518C>T	c.(517-519)tCg>tTg	p.S173L	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	173						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTGATTGGCTCGGCTGCTGAA	0.612													26	29					0	0	0	0	T	23811447	C	T	23811447	3	4	361	1	0	0	0	0	1	0	0	0	9677	893	31	1	520	1	MKRN3	15	23811447	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08		23811447	78719945	96	68717											
GPR176	11245	broad.mit.edu	37	chr15	40093386	40093386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgtttctgctcatcttccGctccaccctgcctaccttgg	4	15	6	16	1	3	0	1	0	2	0	5	0	5	0	5	1	3	3	5	1	1	5			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr15:40093386G>A	ENST00000299092.3	-	4	1690	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000543580.1_Missense_Mutation_p.R454W|GPR176_ENST00000561100.1_Missense_Mutation_p.R499W	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	499					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTCATCTTCCGCTCCACCCTG	0.512													42	81					0	0	0	0	A	40093386	G	A	40093386	3	1	361	1	0	0	0	0	1	0	0	0	6722	1086	38	1	56	1	GPR176	15	40093386	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	16281939	40093386	62438006	97	68718											
UACA	55075	broad.mit.edu	37	chr15	70960561	70960561	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagctgtttcttaagttcaAcaatattggatttcagagct	12	15	7	7	0	3	1	2	0	1	1	3	2	3	2	0	1	3	4	0	1	4	6			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr15:70960561A>G	ENST00000322954.6	-	16	2647	c.2462T>C	c.(2461-2463)gTt>gCt	p.V821A	UACA_ENST00000379983.2_Missense_Mutation_p.V808A|UACA_ENST00000560441.1_Missense_Mutation_p.V806A|UACA_ENST00000539319.1_Missense_Mutation_p.V712A	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	821						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTTAAGTTCAACAATATTGGA	0.368													3	83					0	0	0	0	G	70960561	A	G	70960561	3	3	361	1	0	0	0	0	1	0	0	0	16920	43	2	5	1804	5	UACA	15	70960561	Missense_Mutation	SNP	A	TCGA-CX-7219-01A-11D-2012-08	30867175	70960561	31570831	98	68719											
MSLN	10232	broad.mit.edu	37	chr16	815234	815234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccggctggtgagctgccCgggacccctggaccaggacc	6	4	14	17	2	0	1	0	1	0	0	0	4	0	4	7	5	2	2	7	5	0	0			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:815234C>T	ENST00000566549.1	+	8	1052	c.635C>T	c.(634-636)cCg>cTg	p.P212L	MSLN_ENST00000545450.2_Missense_Mutation_p.P212L|MSLN_ENST00000382862.3_Missense_Mutation_p.P212L|MSLN_ENST00000563941.1_Missense_Mutation_p.P212L			Q13421	MSLN_HUMAN	mesothelin	212					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GTGAGCTGCCCGGGACCCCTG	0.697													4	10					0	0	0	0	T	815234	C	T	815234	3	4	361	1	0	0	0	0	1	0	0	0	9951	652	23	1	661	1	MSLN	16	815234	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08		815234	89539519	99	68720											
CASKIN1	57524	broad.mit.edu	37	chr16	2239445	2239445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagtgaccatgctgggccGccaggtgcagggggatgtgg	7	7	18	9	1	0	1	0	1	0	0	0	2	0	2	3	5	2	2	3	5	1	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:2239445G>T	ENST00000343516.6	-	4	457	c.365C>A	c.(364-366)gCg>gAg	p.A122E		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	122					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ATGCTGGGCCGCCAGGTGCAG	0.716													5	26					0.000602214	0.00161647	1	0	T	2239445	G	T	2239445	3	4	361	1	0	0	0	0	1	0	0	0	2691	1087	38	3	3998	3	CASKIN1	16	2239445	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	1424211	2239445	88115308	100	68721											
DCUN1D3	123879	broad.mit.edu	37	chr16	20871625	20871625	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttctgttaagaggctaggGaaccgtgcacagattccgtc	9	10	12	10	2	1	2	0	0	1	2	3	3	2	3	2	2	2	4	2	2	3	4			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:20871625G>A	ENST00000324344.3	-	3	783	c.498C>T	c.(496-498)ttC>ttT	p.F166F	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Silent_p.F166F	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	166	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AGAGGCTAGGGAACCGTGCAC	0.443													31	67					0	0	0	0	A	20871625	G	A	20871625	2	1	361	1	0	0	0	0	0	0	0	1	4347	1165	41	2		2	DCUN1D3	16	20871625	Silent	SNP	G	TCGA-CX-7219-01A-11D-2012-08	18632180	20871625	69483128	101	68722											
EEF2K	29904	broad.mit.edu	37	chr16	22260121	22260121	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggatgatgaagttctgatCaagatggcatctcaggtgag	11	11	13	6	0	3	5	2	4	2	1	4	6	3	6	0	3	0	2	0	3	2	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:22260121C>G	ENST00000263026.5	+	4	867	c.393C>G	c.(391-393)atC>atG	p.I131M		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	131	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	p.I131M(2)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AAGTTCTGATCAAGATGGCAT	0.567													8	35					0	0	0	0	G	22260121	C	G	22260121	3	3	361	1	0	0	0	0	1	0	0	0	4966	816	29	2	403	2	EEF2K	16	22260121	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	1388496	22260121	68094632	102	68723											
CNGB1	1258	broad.mit.edu	37	chr16	58001090	58001090	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctggttccacctccgccTccatctctggctctggttcc	2	14	8	17	1	3	0	0	0	3	0	8	0	7	0	6	3	0	4	6	3	0	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:58001090T>C	ENST00000564448.1	-	2	161	c.101A>G	c.(100-102)gAg>gGg	p.E34G	CNGB1_ENST00000251102.8_Missense_Mutation_p.E34G|CNGB1_ENST00000311183.4_Missense_Mutation_p.E34G			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	34	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CACCTCCGCCTCCATCTCTGG	0.642													3	81					0	0	0	0	C	58001090	T	C	58001090	3	2	361	1	0	0	0	0	1	0	0	0	3630	1551	54	5	3812	5	CNGB1	16	58001090	Missense_Mutation	SNP	T	TCGA-CX-7219-01A-11D-2012-08	35740969	58001090	32353663	103	68724											
CMTM1	113540	broad.mit.edu	37	chr16	66603924	66603924	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaagtctggaaatctgcaTtgtcgttttttttattctaa	10	18	6	7	1	3	0	0	0	3	0	4	1	3	1	0	1	1	2	0	1	4	7			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:66603924T>C	ENST00000379500.2	+	2	585	c.518T>C	c.(517-519)aTt>aCt	p.I173T	CMTM1_ENST00000528324.1_Missense_Mutation_p.I56T|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000328020.6_Missense_Mutation_p.I173T|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000457188.2_Missense_Mutation_p.I56T|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000531885.1_Intron	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	56					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		GAAATCTGCATTGTCGTTTTT	0.343													49	103					0	0	0	0	C	66603924	T	C	66603924	3	2	361	1	0	0	0	0	1	0	0	0	3612	1493	52	5	524	5	CMTM1	16	66603924	Missense_Mutation	SNP	T	TCGA-CX-7219-01A-11D-2012-08	8602834	66603924	23750829	104	68725											
TP53	7157	broad.mit.edu	37	chr17	7578262	7578262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacgcaaatttccttccactCggataagatgctgaggaggg	11	9	11	10	2	0	2	0	1	0	1	3	4	2	4	2	3	1	2	2	3	2	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:7578262C>G	ENST00000420246.2	-	6	719	c.587G>C	c.(586-588)cGa>cCa	p.R196P	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R196P|TP53_ENST00000445888.2_Missense_Mutation_p.R196P|TP53_ENST00000413465.2_Missense_Mutation_p.R196P|TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000269305.4_Missense_Mutation_p.R196P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCCTTCCACTCGGATAAGATG	0.547		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	17					0	0	0	0	G	7578262	C	G	7578262	3	3	361	1	0	0	0	0	1	0	0	0	16476	884	31	3	707	3	TP53	17	7578262	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08		7578262	73616948	105	68726											
CCDC144A	9720	broad.mit.edu	37	chr17	16612722	16612722	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtttgatttgcaaatgAcaaaaaatatgaaccaaaat	21	10	6	4	0	0	4	0	3	0	1	0	4	0	4	1	0	2	2	1	0	9	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:16612722A>T	ENST00000443444.2	+	5	1491	c.1351A>T	c.(1351-1353)Aca>Tca	p.T451S	CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000399273.1_Missense_Mutation_p.T451S|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.T451S|CCDC144A_ENST00000360524.8_Missense_Mutation_p.T451S|CCDC144A_ENST00000340621.5_Missense_Mutation_p.T450S			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	451																	TTTGCAAATGACAAAAAATAT	0.343													24	26					0	0	0	0	T	16612722	A	T	16612722	3	4	361	1	0	0	0	0	1	0	0	0	2802	275	10	5	1369	5	CCDC144A	17	16612722	Missense_Mutation	SNP	A	TCGA-CX-7219-01A-11D-2012-08	9034460	16612722	64582488	106	68727											
PIGW	284098	broad.mit.edu	37	chr17	34893502	34893502	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaatggtttgtctagaGgtcaggaggagaaaatatat	13	12	12	4	0	3	2	1	0	2	2	3	4	3	3	0	4	1	2	0	4	6	4			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:34893502G>A	ENST00000592983.1	+	2	1132	c.552G>A	c.(550-552)gaG>gaA	p.E184E	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Silent_p.E184E			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	184					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTGTCTAGAGGTCAGGAGGA	0.418													36	150					0	0	0	0	A	34893502	G	A	34893502	2	1	361	1	0	0	0	0	0	0	0	1	11974	991	35	4		4	PIGW	17	34893502	Silent	SNP	G	TCGA-CX-7219-01A-11D-2012-08	18280780	34893502	46301708	107	68728											
TBX21	30009	broad.mit.edu	37	chr17	45822604	45822604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagtgattcaggactgggcGaaggagactctaagaggagg	12	6	16	7	1	2	3	1	1	1	2	2	7	2	5	1	5	0	0	1	5	2	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:45822604G>A	ENST00000177694.1	+	6	1691	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	494					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.E494K(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGGACTGGGCGAAGGAGACTC	0.617													9	42					0	0	0	0	A	45822604	G	A	45822604	3	1	361	1	0	0	0	0	1	0	0	0	15751	1059	37	1	1502	1	TBX21	17	45822604	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	10929102	45822604	35372606	108	68729											
TRIM37	4591	broad.mit.edu	37	chr17	57119177	57119177	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagtgacctcattacctgCgggtcctgcagcagctgcat	7	10	12	12	1	1	1	1	1	0	0	2	2	2	2	3	2	6	4	3	2	1	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:57119177C>A	ENST00000376149.3	-	17	2193	c.1384G>T	c.(1384-1386)Gca>Tca	p.A462S	TRIM37_ENST00000262294.7_Missense_Mutation_p.A584S|TRIM37_ENST00000393065.2_Missense_Mutation_p.A550S|TRIM37_ENST00000393066.3_Missense_Mutation_p.A584S			O94972	TRI37_HUMAN	tripartite motif containing 37	584						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCATTACCTGCGGGTCCTGCA	0.423									Mulibrey Nanism				7	19					0.00307968	0.00805455	1	0	A	57119177	C	A	57119177	3	1	361	1	0	0	0	0	1	0	0	0	16606	768	27	3	1184	3	TRIM37	17	57119177	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	11296573	57119177	24076033	109	68730											
ASXL3	80816	broad.mit.edu	37	chr18	31319985	31319986	+	Frame_Shift_Ins	INS	-	-	A																															tagcgtcctgcaaagaacagINSaaaaaaaagtgttaccttca																										TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr18:31319985_31319986insA	ENST00000269197.5	+	11	2617_2618	c.2617_2618insA	c.(2617-2619)aaafs	p.K873fs		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAAAGAACAGAAAAAAAAGTG	0.376													31	39	---	---	---	---					A	31319986	-	A	31319985	7	5	361	1	0	1	1	0	0	0	0	0	1072	943	33	0	2659	0	ASXL3	18	31319985	Frame_Shift_Ins	INS	-	TCGA-CX-7219-01A-11D-2012-08		31319985	46757263	110	68731											
HMHA1	23526	broad.mit.edu	37	chr19	1082981	1082981	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcagtggcggtggcccTggcaggtcggctgcgggagc	4	5	21	11	4	0	0	0	0	0	0	1	2	0	1	1	8	2	3	1	8	0	0			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:1082981T>A	ENST00000313093.2	+	20	2891	c.2660T>A	c.(2659-2661)cTg>cAg	p.L887Q	HMHA1_ENST00000543365.1_Missense_Mutation_p.L770Q|HMHA1_ENST00000539243.2_Missense_Mutation_p.L903Q|HMHA1_ENST00000536472.1_Missense_Mutation_p.L755Q|HMHA1_ENST00000590214.1_Missense_Mutation_p.L914Q|HMHA1_ENST00000586866.1_Missense_Mutation_p.L891Q|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000590577.1_Missense_Mutation_p.L522Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	887	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GCGGTGGCCCTGGCAGGTCGG	0.716													5	8					0	0	0	0	A	1082981	T	A	1082981	3	1	361	1	0	0	0	0	1	0	0	0	7290	1580	55	5	2738	5	HMHA1	19	1082981	Missense_Mutation	SNP	T	TCGA-CX-7219-01A-11D-2012-08		1082981	58046002	111	68732											
ZNF136	7695	broad.mit.edu	37	chr19	12296615	12296615	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaggactcggtggcttttGaggatgtagatgtgaacttc	8	14	13	6	1	1	3	1	2	0	1	3	5	1	5	0	4	1	2	0	4	2	5			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:12296615G>C	ENST00000343979.4	+	2	159	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	ZNF136_ENST00000398616.2_Intron	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	7	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GGTGGCTTTTGAGGATGTAGA	0.478													13	59					0	0	0	0	C	12296615	G	C	12296615	3	2	361	1	0	0	0	0	1	0	0	0	17821	1291	45	2	25	2	ZNF136	19	12296615	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	11213634	12296615	46832368	112	68733											
MAST3	23031	broad.mit.edu	37	chr19	18232573	18232573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcccctgtcgccattgtcGgtcccaacgggtgagtgtgg	4	9	15	13	4	0	1	0	1	0	0	3	1	1	1	4	4	1	0	4	4	1	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:18232573G>A	ENST00000262811.5	+	3	150	c.150G>A	c.(148-150)tcG>tcA	p.S50S		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	50							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CGCCATTGTCGGTCCCAACGG	0.687													29	83					0	0	0	0	A	18232573	G	A	18232573	2	1	361	1	0	0	0	0	0	0	0	1	9395	1103	39	1		1	MAST3	19	18232573	Silent	SNP	G	TCGA-CX-7219-01A-11D-2012-08	5935958	18232573	40896410	113	68734											
PDCD2L	84306	broad.mit.edu	37	chr19	34895682	34895682	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgctgcacgtgttcgcGtgcgcctgccccggctgtag	2	10	14	15	6	1	0	0	0	1	0	2	0	1	0	3	1	4	5	3	1	1	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:34895682G>T	ENST00000246535.3	+	2	284	c.237G>T	c.(235-237)gcG>gcT	p.A79A	RP11-618P17.4_ENST00000606020.1_Silent_p.A74A	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	79						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ACGTGTTCGCGTGCGCCTGCC	0.716													5	11					0.00116845	0.00311585	1	0	T	34895682	G	T	34895682	2	4	361	1	0	0	0	0	0	0	0	1	11691	1132	40	3		3	PDCD2L	19	34895682	Silent	SNP	G	TCGA-CX-7219-01A-11D-2012-08	16663109	34895682	24233301	114	68735											
PSMC4	5704	broad.mit.edu	37	chr19	40478119	40478119	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcctgggccctgagcctGaggacctggaggacctgtac	6	8	13	14	0	0	2	0	2	0	0	1	5	1	5	6	4	2	1	6	4	1	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:40478119G>C	ENST00000157812.2	+	2	301	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	PSMC4_ENST00000455878.2_Missense_Mutation_p.E35Q	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	35					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCCTGAGCCTGAGGACCTGGA	0.582													24	82					0	0	0	0	C	40478119	G	C	40478119	3	2	361	1	0	0	0	0	1	0	0	0	12768	1291	45	2	109	2	PSMC4	19	40478119	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	5582437	40478119	18650864	115	68736											
FAM83E	54854	broad.mit.edu	37	chr19	49104463	49104463	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcatccccaccgaaccgcCttcgggctggggacagatag	9	6	12	14	3	0	1	0	0	0	1	2	3	1	2	5	3	2	2	5	3	3	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:49104463C>G	ENST00000263266.3	-	5	1529	c.1340G>C	c.(1339-1341)aGg>aCg	p.R447T		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	447										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		ACCGAACCGCCTTCGGGCTGG	0.701													11	30					0	0	0	0	G	49104463	C	G	49104463	3	3	361	1	0	0	0	0	1	0	0	0	5683	681	24	4	100	4	FAM83E	19	49104463	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	8626344	49104463	10024520	116	68737											
ZNF132	7691	broad.mit.edu	37	chr19	58944808	58944808	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggtgccgaacaagtgtaGatctttcactaaaggctttt	10	14	9	8	1	3	1	1	0	2	1	3	2	3	1	1	2	2	2	1	2	5	5			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:58944808G>C	ENST00000254166.3	-	3	2403	c.2003C>G	c.(2002-2004)tCt>tGt	p.S668C		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	668						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		AACAAGTGTAGATCTTTCACT	0.468													7	64					0	0	0	0	C	58944808	G	C	58944808	3	2	361	1	0	0	0	0	1	0	0	0	17817	942	33	2	121	2	ZNF132	19	58944808	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	9840345	58944808	184175	117	68738											
PLCB1	23236	broad.mit.edu	37	chr20	8713951	8713951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggctacagattgaagcCagagttcatgaggaggcctg	11	8	15	7	0	1	4	1	2	0	2	1	6	1	5	2	3	2	2	2	3	2	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:8713951C>A	ENST00000378641.3	+	19	2430	c.1955C>A	c.(1954-1956)cCa>cAa	p.P652Q	PLCB1_ENST00000338037.6_Missense_Mutation_p.P652Q|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.P652Q	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	652	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGATTGAAGCCAGAGTTCATG	0.423													15	67					2.31682e-05	6.34405e-05	1	0	A	8713951	C	A	8713951	3	1	361	1	0	0	0	0	1	0	0	0	12099	594	21	4	2029	4	PLCB1	20	8713951	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08		8713951	54311569	118	68739											
ACSS1	84532	broad.mit.edu	37	chr20	25038539	25038567	+	Frame_Shift_Del	DEL	CGGGCTGCCTGTGCACTCAGCGCGGGATA	CGGGCTGCCTGTGCACTCAGCGCGGGATA	-																															cccagaaggcggccggctccCgggctgcctgtgcactcagc																								rs73348757	by1000genomes	TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:25038539_25038567delCGGGCTGCCTGTGCACTCAGCGCGGGATA	ENST00000323482.4	-	1	251_279	c.172_200delTATCCCGCGCTGAGTGCACAGGCAGCCCG	c.(172-201)gfs	p.YPALSAQAAR58fs	ACSS1_ENST00000376726.3_Frame_Shift_Del_p.YPALSAQAAR58fs|ACSS1_ENST00000432802.2_Frame_Shift_Del_p.YPALSAQAAR58fs	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	58					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCCGGCTCCCGGGCTGCCTGTGCACTCAGCGCGGGATACGAGCCTGGC	0.734													12	34	---	---	---	---					-	25038567	CGGGCTGCCTGTGCACTCAGCGCGGGATA	-	25038539	7	5	361	1	0	1	0	1	0	0	0	0	188	652	23	0	1925	0	ACSS1	20	25038539	Frame_Shift_Del	DEL	CGGGCTGCCTGTGCACTCAGCGCGGGATA	TCGA-CX-7219-01A-11D-2012-08	16324588	25038539	37986981	119	68740											
NINL	22981	broad.mit.edu	37	chr20	25457633	25457633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtggcaggggtccctgcGgcggctcctccagctccaag	4	6	15	16	4	0	0	0	0	0	0	4	0	4	0	4	5	2	3	4	5	1	0			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:25457633G>A	ENST00000278886.6	-	17	2367	c.2294C>T	c.(2293-2295)cCg>cTg	p.P765L	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	765					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGGTCCCTGCGGCGGCTCCTC	0.692													12	7					0	0	0	0	A	25457633	G	A	25457633	3	1	361	1	0	0	0	0	1	0	0	0	10490	1116	39	1	1886	1	NINL	20	25457633	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	419094	25457633	37567887	120	68741											
DIDO1	11083	broad.mit.edu	37	chr20	61512690	61512690	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcttgtctgcagactGctgctcttgctggaacagct	5	11	14	11	1	2	1	0	0	2	1	2	2	2	2	0	3	6	6	0	3	1	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:61512690G>A	ENST00000266070.4	-	16	4943	c.4618C>T	c.(4618-4620)Cag>Tag	p.Q1540*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.Q1540*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1540					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTGCAGACTGCTGCTCTTGC	0.667													45	54					0	0	0	0	A	61512690	G	A	61512690	4	1	361	1	0	0	0	0	0	1	0	0	4559	1328	46	4	2108	4	DIDO1	20	61512690	Nonsense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	36055057	61512690	1512830	121	68742											
DIDO1	11083	broad.mit.edu	37	chr20	61542922	61542922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgctggtgggtttgatggCcttaggtgcctcctcattgc	3	16	13	9	0	1	1	1	1	0	0	2	1	2	1	3	4	3	2	3	4	1	4			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:61542922C>T	ENST00000266070.4	-	3	368	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	DIDO1_ENST00000370368.1_Missense_Mutation_p.A15T|DIDO1_ENST00000395335.2_Missense_Mutation_p.A15T|DIDO1_ENST00000370366.1_Missense_Mutation_p.A15T|DIDO1_ENST00000266071.5_Missense_Mutation_p.A15T|DIDO1_ENST00000395343.1_Missense_Mutation_p.A15T|DIDO1_ENST00000354665.4_Missense_Mutation_p.A15T|DIDO1_ENST00000370371.4_Missense_Mutation_p.A15T|DIDO1_ENST00000395340.1_Missense_Mutation_p.A15T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	15					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTTTGATGGCCTTAGGTGCC	0.542													12	13					0	0	0	0	T	61542922	C	T	61542922	3	4	361	1	0	0	0	0	1	0	0	0	4559	739	26	4	6865	4	DIDO1	20	61542922	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	30232	61542922	1482598	122	68743											
U2AF1	7307	broad.mit.edu	37	chr21	44524445	44524445	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctaaacgtcggtttatTgtgcaaccgagagcacctgt	9	11	11	10	3	0	1	0	0	0	1	1	2	0	1	2	2	4	4	2	2	4	4			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr21:44524445T>G	ENST00000291552.4	-	2	204	c.112A>C	c.(112-114)Aat>Cat	p.N38H	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.N38H|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	38					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTCGGTTTATTGTGCAACCGA	0.343			Mis		"CLL, MDS"								6	16					0	0	0	0	G	44524445	T	G	44524445	3	3	361	1	0	0	0	0	1	0	0	0	16917	1812	63	5	709	5	U2AF1	21	44524445	Missense_Mutation	SNP	T	TCGA-CX-7219-01A-11D-2012-08		44524445	3605450	123	68744											
EP300	2033	broad.mit.edu	37	chr22	41564727	41564727	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatctcaattgtataggtTtgtggacagtggagagatgg	11	12	13	5	0	1	1	1	0	1	1	2	4	1	3	1	4	0	2	1	4	3	4			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr22:41564727T>G	ENST00000263253.7	+	25	5247	c.4028T>G	c.(4027-4029)tTt>tGt	p.F1343C		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1343					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTGTATAGGTTTGTGGACAGT	0.443			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				17	46					0	0	0	0	G	41564727	T	G	41564727	3	3	361	1	0	0	0	0	1	0	0	0	5186	1841	64	5	4126	5	EP300	22	41564727	Missense_Mutation	SNP	T	TCGA-CX-7219-01A-11D-2012-08		41564727	9739839	124	68745											
ZCCHC18	644353	broad.mit.edu	37	chrX	103359010	103359010	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actggctgatccaagtcaatGaggtcctgccagattggagt	10	10	12	9	0	1	3	1	2	0	1	3	4	3	4	3	3	1	1	3	3	2	1			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chrX:103359010G>C	ENST00000537356.2	+	1	208	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	70							nucleic acid binding|zinc ion binding										CCAAGTCAATGAGGTCCTGCC	0.502													7	8					0	0	0	0	C	103359010	G	C	103359010	3	2	361	1	0	0	0	0	1	0	0	0	17681	1291	45	2	210	2	ZCCHC18	23	103359010	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08		103359010	51911550	125	68746											
PSMD10	5716	broad.mit.edu	37	chrX	107331314	107331314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagaagccgcaatatgaaGaggagaccaacctgcctata	16	5	10	10	1	0	4	0	1	0	3	0	5	0	4	4	1	4	2	4	1	7	3			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chrX:107331314G>A	ENST00000217958.3	-	3	326	c.229C>T	c.(229-231)Ctt>Ttt	p.L77F	PSMD10_ENST00000372296.1_Intron|PSMD10_ENST00000340200.5_Missense_Mutation_p.L44F|PSMD10_ENST00000361815.5_Missense_Mutation_p.L77F|PSMD10_ENST00000372295.1_Intron	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	77	Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|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|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCAATATGAAGAGGAGACCAA	0.453													16	27					0	0	0	0	A	107331314	G	A	107331314	3	1	361	1	0	0	0	0	1	0	0	0	12772	942	33	2	463	2	PSMD10	23	107331314	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	3972304	107331314	47939246	126	68747											
CXorf56	63932	broad.mit.edu	37	chrX	118673707	118673707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggttatttgaactggttgtCaatcaaggtccccttcattt	8	17	8	8	0	3	1	3	1	0	0	4	1	4	1	2	3	1	2	2	3	4	5			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chrX:118673707C>G	ENST00000320339.4	-	7	776	c.505G>C	c.(505-507)Gac>Cac	p.D169H	CXorf56_ENST00000371594.4_Missense_Mutation_p.D218H|CXorf56_ENST00000536133.1_Missense_Mutation_p.D204H|CXorf56_ENST00000486230.1_Missense_Mutation_p.D218H|CXorf56_ENST00000476164.1_Missense_Mutation_p.D218H|CXorf56_ENST00000469448.1_5'UTR	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	218							protein binding			cervix(1)|endometrium(2)|lung(7)	10						AACTGGTTGTCAATCAAGGTC	0.373													9	11					0	0	0	0	G	118673707	C	G	118673707	3	3	361	1	0	0	0	0	1	0	0	0	4144	826	29	2	20	2	CXorf56	23	118673707	Missense_Mutation	SNP	C	TCGA-CX-7219-01A-11D-2012-08	11342393	118673707	36596853	127	68748											
CNGA2	1260	broad.mit.edu	37	chrX	150912370	150912370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggctggcctgctggtagaGctggtactgaaactccgtcc	7	9	14	11	1	0	2	0	1	0	1	2	3	2	2	3	4	4	5	3	4	3	2			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chrX:150912370G>C	ENST00000329903.4	+	6	1428	c.1395G>C	c.(1393-1395)gaG>gaC	p.E465D		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	465					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGTAGAGCTGGTACTGA	0.522													19	30					0	0	0	0	C	150912370	G	C	150912370	3	2	361	1	0	0	0	0	1	0	0	0	3627	962	34	4	1417	4	CNGA2	23	150912370	Missense_Mutation	SNP	G	TCGA-CX-7219-01A-11D-2012-08	32238663	150912370	4358190	128	68749											
ZNF436	80818	broad.mit.edu	37	chr1	23688749	23688749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctggtgtgtgatgagatGagagctccggctgaagcttt	7	14	14	6	1	1	4	0	4	1	2	2	6	2	4	1	2	2	3	1	2	1	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:23688749G>A	ENST00000314011.4	-	4	1262	c.1126C>T	c.(1126-1128)Cat>Tat	p.H376Y	ZNF436_ENST00000374609.1_Intron|ZNF436_ENST00000374608.3_Missense_Mutation_p.H376Y	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GTGATGAGATGAGAGCTCCGG	0.453													29	63					0	0	0	0	A	23688749	G	A	23688749	3	1	362	1	0	0	0	0	1	0	0	0	18004	1290	45	2	290	2	ZNF436	1	23688749	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08		23688749	225561872	1	68750											
ZNF436	80818	broad.mit.edu	37	chr1	23689182	23689182	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaggtgagagagacggcaGaaactttttccacactcatt	13	11	9	8	1	1	3	1	1	0	3	2	5	2	3	1	2	1	1	1	2	2	4			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:23689182G>C	ENST00000314011.4	-	4	829	c.693C>G	c.(691-693)ttC>ttG	p.F231L	ZNF436_ENST00000374609.1_Missense_Mutation_p.F231L|ZNF436_ENST00000374608.3_Missense_Mutation_p.F231L	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGAGACGGCAGAAACTTTTTC	0.478													53	68					0	0	0	0	C	23689182	G	C	23689182	3	2	362	1	0	0	0	0	1	0	0	0	18004	933	33	2	723	2	ZNF436	1	23689182	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	433	23689182	225561439	2	68751											
PUM1	9698	broad.mit.edu	37	chr1	31478756	31478774	+	Frame_Shift_Del	DEL	CCATGCTAACGCCTAGTCC	CCATGCTAACGCCTAGTCC	-																															tgagctcaacacatactccaCcatgctaacgcctagtcccc																										TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:31478756_31478774delCCATGCTAACGCCTAGTCC	ENST00000373747.3	-	5	745_763	c.646_664delGGACTAGGCGTTAGCATGG	c.(646-666)tgfs	p.GLGVSMV216fs	PUM1_ENST00000257075.5_Frame_Shift_Del_p.GLGVSMV216fs|PUM1_ENST00000440538.2_Frame_Shift_Del_p.GLGVSMV216fs|PUM1_ENST00000426105.2_Frame_Shift_Del_p.GLGVSMV216fs|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000423018.2_Intron|PUM1_ENST00000373741.4_Frame_Shift_Del_p.GLGVSMV252fs|PUM1_ENST00000373742.2_Intron	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	216					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ACATACTCCACCATGCTAACGCCTAGTCCCCCACTCTCC	0.498													10	60	---	---	---	---					-	31478774	CCATGCTAACGCCTAGTCC	-	31478756	7	5	362	1	0	1	0	1	0	0	0	0	12907	507	18	0	2974	0	PUM1	1	31478756	Frame_Shift_Del	DEL	CCATGCTAACGCCTAGTCC	TCGA-CX-A4AQ-01A-11D-A25D-08	7789574	31478756	217771865	3	68752											
TRIT1	54802	broad.mit.edu	37	chr1	40349133	40349133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgagcccactgcccacggGaactgctcgtgcagccgcca	7	5	11	18	3	0	1	0	1	0	0	1	2	0	2	5	1	6	2	5	1	1	0			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:40349133G>T	ENST00000316891.5	-	1	45	c.31C>A	c.(31-33)Ccc>Acc	p.P11T	TRIT1_ENST00000441669.2_Missense_Mutation_p.P11T|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000544981.1_Missense_Mutation_p.P11T|TRIT1_ENST00000372818.1_Missense_Mutation_p.P11T	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	11					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGCCCACGGGAACTGCTCGT	0.657													6	27					0.0293803	0.0300144	1	0	T	40349133	G	T	40349133	3	4	362	1	0	0	0	0	1	0	0	0	16655	1174	41	2	1416	2	TRIT1	1	40349133	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	8870377	40349133	208901488	4	68753											
IPP	3652	broad.mit.edu	37	chr1	46206944	46206944	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaacaacttcagtcaacTgtagcatgtctgctgcaata	13	11	8	9	0	3	1	2	1	1	0	3	2	3	1	0	0	6	4	0	0	6	3			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:46206944T>A	ENST00000396478.3	-	3	455	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	118						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTCAGTCAACTGTAGCATGTC	0.373													23	59					0	0	0	0	A	46206944	T	A	46206944	3	1	362	1	0	0	0	0	1	0	0	0	7853	1580	55	5	1531	5	IPP	1	46206944	Missense_Mutation	SNP	T	TCGA-CX-A4AQ-01A-11D-A25D-08	5857811	46206944	203043677	5	68754											
CYR61	3491	broad.mit.edu	37	chr1	86047778	86047778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttgggctgtcccaaccctCggctggtcaaagttaccggg	7	9	12	13	2	1	0	1	0	0	0	3	0	2	0	3	4	2	3	3	4	3	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:86047778C>T	ENST00000451137.2	+	3	669	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	149	VWFC.				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TCCCAACCCTCGGCTGGTCAA	0.567											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	82					0	0	0	0	T	86047778	C	T	86047778	3	4	362	1	0	0	0	0	1	0	0	0	4231	875	31	1	455	1	CYR61	1	86047778	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	39840834	86047778	163202843	6	68755											
NOTCH2	4853	broad.mit.edu	37	chr1	120464983	120464983	+	Frame_Shift_Del	DEL	C	C	-																															ctttcgttttgccatgattaCccccagcagaataataaaca																										TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:120464983delC	ENST00000256646.2	-	28	5308	c.5089delG	c.(5089-5091)tafs	p.V1697fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1697					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.V1697fs*9(1)		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)		GCCATGATTACCCCCAGCAGA	0.498			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				12	31	---	---	---	---					-	120464983	C	-	120464983	7	5	362	1	0	1	0	1	0	0	0	0	10618	507	18	0	2354	0	NOTCH2	1	120464983	Frame_Shift_Del	DEL	C	TCGA-CX-A4AQ-01A-11D-A25D-08	34417205	120464983	128785638	7	68756											
PDE4DIP	9659	broad.mit.edu	37	chr1	144854605	144854605	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctgaaggagtcgctcctGtttggatactttggttctca	6	15	11	9	1	2	1	1	1	2	0	5	3	3	3	1	3	1	4	1	3	2	4			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:144854605G>A	ENST00000369359.4	-	45	7311	c.7273C>T	c.(7273-7275)Cag>Tag	p.Q2425*	PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q2183*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q2374*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.Q2289*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q2289*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2289					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTCGCTCCTGTTTGGATACT	0.493			T	PDGFRB	MPD								22	137					0	0	0	0	A	144854605	G	A	144854605	4	1	362	1	0	0	0	0	0	1	0	0	11714	1386	48	4	187	4	PDE4DIP	1	144854605	Nonsense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	24389622	144854605	104396016	8	68757											
S100A4	6275	broad.mit.edu	37	chr1	153516297	153516297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgttacacatcatggcgaTgcaggacaggaagacacagt	13	8	11	9	2	1	1	1	0	0	1	2	4	1	3	0	3	2	2	0	3	2	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:153516297T>C	ENST00000368716.4	-	3	391	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	S100A4_ENST00000354332.4_Missense_Mutation_p.I82V|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368714.1_Missense_Mutation_p.I82V|S100A4_ENST00000368715.1_Missense_Mutation_p.I82V	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	82	EF-hand 2.				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATCATGGCGATGCAGGACAGG	0.507													52	133					0	0	0	0	C	153516297	T	C	153516297	3	2	362	1	0	0	0	0	1	0	0	0	13865	1464	51	5	65	5	S100A4	1	153516297	Missense_Mutation	SNP	T	TCGA-CX-A4AQ-01A-11D-A25D-08	8661692	153516297	95734324	9	68758											
GPATCH4	54865	broad.mit.edu	37	chr1	156566266	156566266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacctgaagtcaatgtaGccatctaggaggggtcatgg	10	9	12	10	0	3	1	2	1	1	0	4	2	4	2	3	4	1	1	3	4	4	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:156566266G>T	ENST00000368232.4	-	6	470	c.338C>A	c.(337-339)gCt>gAt	p.A113D	GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000438976.2_Missense_Mutation_p.A118D	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	113						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGTCAATGTAGCCATCTAGGA	0.502													32	73					3.1745e-13	3.63531e-13	1	0	T	156566266	G	T	156566266	3	4	362	1	0	0	0	0	1	0	0	0	6642	971	34	4	786	4	GPATCH4	1	156566266	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	3049969	156566266	92684355	10	68759											
NUF2	83540	broad.mit.edu	37	chr1	163295850	163295850	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaacttccaagatggaaacTttgtctttccccagatataa	14	12	6	9	0	1	2	0	0	1	2	3	4	3	3	3	1	2	0	3	1	5	5			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:163295850T>A	ENST00000271452.3	+	2	288	c.9T>A	c.(7-9)acT>acA	p.T3T	NUF2_ENST00000490881.1_Intron|NUF2_ENST00000524800.1_Silent_p.T3T|NUF2_ENST00000367900.3_Silent_p.T3T	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	3	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AGATGGAAACTTTGTCTTTCC	0.338													31	91					0	0	0	0	A	163295850	T	A	163295850	2	1	362	1	0	0	0	0	0	0	0	1	10818	1596	56	5		5	NUF2	1	163295850	Silent	SNP	T	TCGA-CX-A4AQ-01A-11D-A25D-08	6729584	163295850	85954771	11	68760											
TNR	7143	broad.mit.edu	37	chr1	175372390	175372390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggccgcagtcctcaccaaCgtagccctcctcgcataaac	9	7	7	18	3	1	0	1	0	0	0	4	0	3	0	5	1	3	3	5	1	4	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:175372390C>T	ENST00000367674.1	-	4	1570	c.862G>A	c.(862-864)Gtt>Att	p.V288I	TNR_ENST00000263525.2_Missense_Mutation_p.V288I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	288	Cys-rich.|EGF-like 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCTCACCAACGTAGCCCTCC	0.632													22	36					0	0	0	0	T	175372390	C	T	175372390	3	4	362	1	0	0	0	0	1	0	0	0	16432	536	19	1	3294	1	TNR	1	175372390	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	12076540	175372390	73878231	12	68761											
ASTN1	460	broad.mit.edu	37	chr1	177133672	177133672	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcaggtcgttctcgcgcagGaagggcagtgccgacaccgt	7	7	14	13	5	2	0	1	0	1	0	4	2	2	1	2	3	1	3	2	3	1	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:177133672G>C	ENST00000367654.2	-	1	154	c.141C>G	c.(139-141)ttC>ttG	p.F47L	ASTN1_ENST00000361833.2_Missense_Mutation_p.F47L|ASTN1_ENST00000367657.3_Missense_Mutation_p.F47L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.F47L			O14525	ASTN1_HUMAN	astrotactin 1	47					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						TCTCGCGCAGGAAGGGCAGTG	0.667													3	20					0	0	0	0	C	177133672	G	C	177133672	3	2	362	1	0	0	0	0	1	0	0	0	1068	1165	41	2	3839	2	ASTN1	1	177133672	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	1761282	177133672	72116949	13	68762											
PRELP	5549	broad.mit.edu	37	chr1	203453090	203453090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agattgagaccatccctaacGgatacttcaagagctttccc	12	10	7	12	1	1	3	1	1	0	3	3	5	3	4	3	1	3	1	3	1	3	5	rs137872837		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:203453090G>A	ENST00000343110.2	+	2	905	c.778G>A	c.(778-780)Gga>Aga	p.G260R		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	260					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CATCCCTAACGGATACTTCAA	0.507													30	91					0	0	0	0	A	203453090	G	A	203453090	3	1	362	1	0	0	0	0	1	0	0	0	12553	1117	39	1	780	1	PRELP	1	203453090	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	26319418	203453090	45797531	14	68763											
TRIM67	440730	broad.mit.edu	37	chr1	231344819	231344819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagctgcgttctccaaggGcgtgcactactgggagctgc	7	8	13	13	2	1	0	0	0	1	0	2	1	1	1	1	2	6	4	1	2	2	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:231344819G>A	ENST00000444294.3	+	8	2798	c.1940G>A	c.(1939-1941)gGc>gAc	p.G647D	TRIM67_ENST00000449018.3_Missense_Mutation_p.G587D|TRIM67_ENST00000366653.5_Missense_Mutation_p.G649D|TRIM67_ENST00000366652.2_Missense_Mutation_p.G649D	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	649	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TTCTCCAAGGGCGTGCACTAC	0.622													29	63					0	0	0	0	A	231344819	G	A	231344819	3	1	362	1	0	0	0	0	1	0	0	0	16635	1203	42	4	1976	4	TRIM67	1	231344819	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	27891729	231344819	17905802	15	68764											
OR2G6	391211	broad.mit.edu	37	chr1	248685628	248685628	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcactcaagctgtgttaagGataaaatcagctgcgggccg	12	9	11	9	2	3	0	3	0	0	0	3	1	3	1	1	2	3	3	1	2	4	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:248685628G>A	ENST00000343414.4	+	1	713	c.681G>A	c.(679-681)agG>agA	p.R227R		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTGTTAAGGATAAAATCAG	0.463													24	57					0	0	0	0	A	248685628	G	A	248685628	2	1	362	1	0	0	0	0	0	0	0	1	11071	1165	41	2		2	OR2G6	1	248685628	Silent	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	17340809	248685628	564993	16	68765											
FAM49A	81553	broad.mit.edu	37	chr2	16769350	16769350	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaagtgtggatagtttTcaatttccctggtaaggact	12	13	11	5	0	1	0	1	0	0	0	2	3	2	3	1	4	0	2	1	4	5	5			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:16769350T>G	ENST00000381323.3	-	3	258	c.38A>C	c.(37-39)gAa>gCa	p.E13A	FAM49A_ENST00000406434.1_Missense_Mutation_p.E13A|FAM49A_ENST00000355549.2_Missense_Mutation_p.E13A	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	13						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TGGATAGTTTTCAATTTCCCT	0.328													10	28					0	0	0	0	G	16769350	T	G	16769350	3	3	362	1	0	0	0	0	1	0	0	0	5622	1783	62	5	973	5	FAM49A	2	16769350	Missense_Mutation	SNP	T	TCGA-CX-A4AQ-01A-11D-A25D-08		16769350	226430023	17	68766											
RAD51AP2	729475	broad.mit.edu	37	chr2	17696515	17696515	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggaacttcctgttctccAttattgggtacagttttcca	8	17	7	9	0	1	0	0	0	1	0	4	1	3	1	3	2	2	3	3	2	4	8			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:17696515A>G	ENST00000399080.2	-	1	3191	c.3168T>C	c.(3166-3168)aaT>aaC	p.N1056N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1056										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTGTTCTCCATTATTGGGTA	0.353													13	18					0	0	0	0	G	17696515	A	G	17696515	2	3	362	1	0	0	0	0	0	0	0	1	13069	214	8	5		5	RAD51AP2	2	17696515	Silent	SNP	A	TCGA-CX-A4AQ-01A-11D-A25D-08	927165	17696515	225502858	18	68767											
APOB	338	broad.mit.edu	37	chr2	21246459	21246459	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgactccagatgaagataTttgcaactgtaatccagctc	14	11	7	9	0	0	4	0	2	0	2	3	4	2	4	2	0	3	3	2	0	5	3			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:21246459T>A	ENST00000233242.1	-	17	2669	c.2542A>T	c.(2542-2544)Ata>Tta	p.I848L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	848					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATGAAGATATTTGCAACTGT	0.428													30	63					0	0	0	0	A	21246459	T	A	21246459	3	1	362	1	0	0	0	0	1	0	0	0	787	1493	52	5	11201	5	APOB	2	21246459	Missense_Mutation	SNP	T	TCGA-CX-A4AQ-01A-11D-A25D-08	3549944	21246459	221952914	19	68768											
RASGRP3	25780	broad.mit.edu	37	chr2	33774785	33774785	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcaggagatgacctatctCaagccaaccttctgcgaaca	12	10	7	12	1	3	2	2	1	2	1	4	4	3	2	3	1	4	0	3	1	4	3			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:33774785C>G	ENST00000403687.3	+	14	2249	c.1509C>G	c.(1507-1509)ctC>ctG	p.L503L	RASGRP3_ENST00000407811.1_Silent_p.L502L|RASGRP3_ENST00000402538.3_Silent_p.L503L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	503					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGACCTATCTCAAGCCAACCT	0.393													7	25					0	0	0	0	G	33774785	C	G	33774785	2	3	362	1	0	0	0	0	0	0	0	1	13158	813	29	2		2	RASGRP3	2	33774785	Silent	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	12528326	33774785	209424588	20	68769			1	109		2	2	13	C		4.380213e-05
RASGRP3	25780	broad.mit.edu	37	chr2	33774797	33774797	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctatctcaagccaaccttCtgcgaacactgtgcgggatt	10	10	8	13	2	2	0	1	0	2	0	3	2	2	1	3	1	5	0	3	1	4	3			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:33774797C>T	ENST00000403687.3	+	14	2261	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	RASGRP3_ENST00000407811.1_Silent_p.F506F|RASGRP3_ENST00000402538.3_Silent_p.F507F	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	507					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AGCCAACCTTCTGCGAACACT	0.393													9	21					0	0	0	0	T	33774797	C	T	33774797	2	4	362	1	0	0	0	0	0	0	0	1	13158	912	32	2		2	RASGRP3	2	33774797	Silent	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	12	33774797	209424576	21	68770			1	109		2	2	13	C		4.380213e-05
PTCD3	55037	broad.mit.edu	37	chr2	86338237	86338237	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggttcttatttttaggGataaagtagccgttcttcag	8	18	10	5	1	3	0	1	0	2	0	3	1	3	1	1	2	1	3	1	2	5	10			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:86338237G>T	ENST00000254630.7	+	4	262	c.194_splice	c.e4-1	p.D66_splice	PTCD3_ENST00000409277.3_Splice_Site_p.D66_splice|PTCD3_ENST00000465560.1_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	66						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TATTTTTAGGGATAAAGTAGC	0.383													9	26					3.09899e-07	3.35921e-07	1	0	T	86338237	G	T	86338237	5	4	362	1	0	0	0	0	0	0	1	0	12808	1188	41	2	210	2	PTCD3	2	86338237	Splice_Site	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	52563440	86338237	156861136	22	68771											
CNTNAP5	129684	broad.mit.edu	37	chr2	125262112	125262112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattcagaaaatgacagaaCgcgtagctgaaatcctcaca	16	8	8	9	2	2	5	2	3	0	2	3	5	3	5	1	0	2	2	1	0	5	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:125262112C>G	ENST00000431078.1	+	8	1667	c.1303C>G	c.(1303-1305)Cgc>Ggc	p.R435G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	435	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATGACAGAACGCGTAGCTGA	0.507													12	14					0	0	0	0	G	125262112	C	G	125262112	3	3	362	1	0	0	0	0	1	0	0	0	3680	536	19	3	1333	3	CNTNAP5	2	125262112	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	38923875	125262112	117937261	23	68772											
TTN	7273	broad.mit.edu	37	chr2	179569383	179569383	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcactgggttccagttttTcagttcctttgtaccacgaa	8	16	7	10	1	2	0	2	0	0	0	4	1	4	0	3	1	1	4	3	1	3	7			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:179569383T>A	ENST00000589042.1	-	105	30040	c.29816A>T	c.(29815-29817)gAa>gTa	p.E9939V	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E8695V|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9622V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9622	Pro-rich.						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)			TTCCAGTTTTTCAGTTCCTTT	0.338													4	18					0	0	0	0	A	179569383	T	A	179569383	3	1	362	1	0	0	0	0	1	0	0	0	16831	1783	62	5	74745	5	TTN	2	179569383	Missense_Mutation	SNP	T	TCGA-CX-A4AQ-01A-11D-A25D-08	54307271	179569383	63629990	24	68773											
FZD5	7855	broad.mit.edu	37	chr2	208632054	208632054	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcgcggtagtgctgctcGtacaggtagcaggccaccac	7	8	12	14	3	1	0	0	0	1	0	3	0	1	0	2	3	4	6	2	3	3	3			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:208632054G>A	ENST00000295417.3	-	2	1963	c.1410C>T	c.(1408-1410)taC>taT	p.Y470Y		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	470					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		AGTGCTGCTCGTACAGGTAGC	0.667													11	29					0	0	0	0	A	208632054	G	A	208632054	2	1	362	1	0	0	0	0	0	0	0	1	6181	1140	40	1		1	FZD5	2	208632054	Silent	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	29062671	208632054	34567319	25	68774											
OBSL1	23363	broad.mit.edu	37	chr2	220435066	220435066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacgaagccgccgtcgcggtCgcggtacatgaggcggcggc	6	4	17	14	9	0	1	0	1	0	0	2	2	0	1	2	5	2	1	2	5	2	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:220435066C>G	ENST00000404537.1	-	1	945	c.889G>C	c.(889-891)Gac>Cac	p.D297H	OBSL1_ENST00000373876.1_Missense_Mutation_p.D297H|OBSL1_ENST00000373873.4_Missense_Mutation_p.D297H|OBSL1_ENST00000603926.1_Missense_Mutation_p.D297H|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000265318.4_Missense_Mutation_p.D297H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	297	Ig-like 3.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCGTCGCGGTCGCGGTACATG	0.692													6	21					0	0	0	0	G	220435066	C	G	220435066	3	3	362	1	0	0	0	0	1	0	0	0	10884	884	31	3	5037	3	OBSL1	2	220435066	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	11803012	220435066	22764307	26	68775											
CNTN6	27255	broad.mit.edu	37	chr3	1363500	1363500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggaagaaaccttgcaaagGgtcaactcattttttatggt	13	12	10	6	0	2	1	2	0	0	1	2	3	2	2	1	3	3	1	1	3	5	4	rs149799168	byFrequency	TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:1363500G>A	ENST00000446702.2	+	8	1555	c.928G>A	c.(928-930)Ggt>Agt	p.G310S	CNTN6_ENST00000539053.1_Missense_Mutation_p.G238S|CNTN6_ENST00000350110.2_Missense_Mutation_p.G310S			Q9UQ52	CNTN6_HUMAN	contactin 6	310					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.G310C(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCTTGCAAAGGGTCAACTCAT	0.358													4	66					0	0	0	0	A	1363500	G	A	1363500	3	1	362	1	0	0	0	0	1	0	0	0	3675	1232	43	4	954	4	CNTN6	3	1363500	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08		1363500	196658930	27	68776											
TADA3	10474	broad.mit.edu	37	chr3	9831513	9831513	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtcctgggccagggccCggcccatgtcctgccttccc	2	7	13	19	2	0	0	0	0	0	0	3	0	3	0	8	4	1	0	8	4	0	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:9831513C>T	ENST00000343450.2	-	3	889	c.342G>A	c.(340-342)ccG>ccA	p.P114P	TADA3_ENST00000440161.1_Silent_p.P114P|TADA3_ENST00000301964.2_Silent_p.P114P|TADA3_ENST00000492635.1_5'UTR	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	114					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GGCCAGGGCCCGGCCCATGTC	0.557													32	43					0	0	0	0	T	9831513	C	T	9831513	2	4	362	1	0	0	0	0	0	0	0	1	15603	639	23	1		1	TADA3	3	9831513	Silent	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	8468013	9831513	188190917	28	68777											
FGD5	152273	broad.mit.edu	37	chr3	14939513	14939513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttgatcaccacgccactCacatcctgcagttcgacagg	9	9	9	14	2	2	1	2	1	0	0	4	2	3	1	3	2	1	3	3	2	0	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:14939513C>T	ENST00000285046.5	+	6	3087	c.2977C>T	c.(2977-2979)Cac>Tac	p.H993Y	FGD5_ENST00000543601.1_Missense_Mutation_p.H752Y|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	993	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCACGCCACTCACATCCTGCA	0.592													36	34					0	0	0	0	T	14939513	C	T	14939513	3	4	362	1	0	0	0	0	1	0	0	0	5881	826	29	2	2999	2	FGD5	3	14939513	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	5108000	14939513	183082917	29	68778											
PLCL2	23228	broad.mit.edu	37	chr3	17131382	17131382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtcatacccgaaaaagCaaacgatgaaactggagaat	19	5	10	7	2	1	2	1	1	0	1	1	6	1	3	1	2	4	1	1	2	7	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:17131382C>T	ENST00000418129.2	+	6	3449	c.2984C>T	c.(2983-2985)gCa>gTa	p.A995V	PLCL2_ENST00000432376.1_Missense_Mutation_p.A995V	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1121					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCCGAAAAAGCAAACGATGAA	0.428													13	19					0	0	0	0	T	17131382	C	T	17131382	3	4	362	1	0	0	0	0	1	0	0	0	12112	710	25	4	3378	4	PLCL2	3	17131382	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	2191869	17131382	180891048	30	68779											
IL17RD	54756	broad.mit.edu	37	chr3	57136546	57136546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacagtgaagagcgtcgCgaatgccgatatgactacca	13	7	10	11	4	1	3	1	2	0	1	2	5	1	3	2	0	3	0	2	0	4	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:57136546C>T	ENST00000296318.7	-	10	1028	c.940G>A	c.(940-942)Gcg>Acg	p.A314T	IL17RD_ENST00000427856.2_Missense_Mutation_p.A290T|IL17RD_ENST00000320057.5_Missense_Mutation_p.A170T|IL17RD_ENST00000463523.1_Missense_Mutation_p.A170T	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	314						Golgi membrane|integral to membrane|plasma membrane	receptor activity	p.A170T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AAGAGCGTCGCGAATGCCGAT	0.557													15	25					0	0	0	0	T	57136546	C	T	57136546	3	4	362	1	0	0	0	0	1	0	0	0	7695	768	27	1	1295	1	IL17RD	3	57136546	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	40005164	57136546	140885884	31	68780											
PDZRN3	23024	broad.mit.edu	37	chr3	73440229	73440229	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtagcacacagtgaggccCagcttgtcctggctgttcat	7	10	12	12	1	1	1	1	1	0	0	2	1	2	1	2	3	2	5	2	3	1	3			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:73440229C>T	ENST00000263666.4	-	6	1407	c.1293G>A	c.(1291-1293)ctG>ctA	p.L431L	PDZRN3_ENST00000479530.1_Silent_p.L148L|PDZRN3_ENST00000462146.2_Silent_p.L88L|PDZRN3_ENST00000535920.1_Silent_p.L153L|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000466780.1_Silent_p.L88L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	431	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CAGTGAGGCCCAGCTTGTCCT	0.478													35	61					0	0	0	0	T	73440229	C	T	73440229	2	4	362	1	0	0	0	0	0	0	0	1	11780	581	21	4		4	PDZRN3	3	73440229	Silent	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	16303683	73440229	124582201	32	68781											
DRD3	1814	broad.mit.edu	37	chr3	113878602	113878602	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggaattgcagccctacCtgtctatgctgatggcacag	10	9	12	10	0	1	1	0	1	1	0	1	2	1	2	2	3	4	3	2	3	4	3			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:113878602C>T	ENST00000383673.2	-	3	813	c.383_splice	c.e3+1	p.R128_splice	DRD3_ENST00000467632.1_Splice_Site_p.R128_splice|DRD3_ENST00000295881.7_Splice_Site_p.R128_splice|DRD3_ENST00000460779.1_Splice_Site_p.R128_splice	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	128					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GCAGCCCTACCTGTCTATGCT	0.512													23	34					0	0	0	0	T	113878602	C	T	113878602	5	4	362	1	0	0	0	0	0	0	1	0	4794	695	24	4	839	4	DRD3	3	113878602	Splice_Site	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	40438373	113878602	84143828	33	68782											
C3orf30	152405	broad.mit.edu	37	chr3	118865871	118865871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagactgactacagattgGctggcctggctgacccagga	11	7	13	10	0	0	5	0	2	0	3	0	6	0	6	2	4	1	2	2	4	2	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:118865871G>A	ENST00000295622.1	+	1	875	c.835G>A	c.(835-837)Gct>Act	p.A279T		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	279										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CTACAGATTGGCTGGCCTGGC	0.493													30	59					0	0	0	0	A	118865871	G	A	118865871	3	1	362	1	0	0	0	0	1	0	0	0	2240	1203	42	4	837	4	C3orf30	3	118865871	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	4987269	118865871	79156559	34	68783											
SPATA16	83893	broad.mit.edu	37	chr3	172835116	172835116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggactctacaaactcatagcGaacacccatttcatcaatgt	14	10	5	12	1	4	0	3	0	1	0	4	2	4	1	1	1	4	0	1	1	5	3	rs144595913		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:172835116G>A	ENST00000351008.3	-	2	589	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	136					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AACTCATAGCGAACACCCATT	0.418													45	101					0	0	0	0	A	172835116	G	A	172835116	3	1	362	1	0	0	0	0	1	0	0	0	15091	1058	37	1	1343	1	SPATA16	3	172835116	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	53969245	172835116	25187314	35	68784											
SH3TC1	54436	broad.mit.edu	37	chr4	8229851	8229851	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggccatcaccttcatgacGcaggcagtggaagccagtgc	9	6	12	14	2	2	1	2	1	0	0	2	2	2	2	4	3	2	2	4	3	1	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:8229851G>T	ENST00000539824.1	+	12	2576	c.2202G>T	c.(2200-2202)acG>acT	p.T734T	SH3TC1_ENST00000245105.3_Silent_p.T810T			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	810							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCTTCATGACGCAGGCAGTGG	0.692													14	17					4.3838e-07	4.71591e-07	1	0	T	8229851	G	T	8229851	2	4	362	1	0	0	0	0	0	0	0	1	14349	1074	38	3		3	SH3TC1	4	8229851	Silent	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08		8229851	182924425	36	68785											
WDR19	57728	broad.mit.edu	37	chr4	39246165	39246165	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctgtttacatccgctctAagaattggtaagagctgcct	10	13	8	10	1	2	2	0	0	2	2	3	2	3	2	2	1	3	4	2	1	4	5			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:39246165A>G	ENST00000399820.3	+	23	2792	c.2638A>G	c.(2638-2640)Aag>Gag	p.K880E	WDR19_ENST00000288634.7_Missense_Mutation_p.K720E	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	880					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CATCCGCTCTAAGAATTGGTA	0.433													14	37					0	0	0	0	G	39246165	A	G	39246165	3	3	362	1	0	0	0	0	1	0	0	0	17375	363	13	5	2728	5	WDR19	4	39246165	Missense_Mutation	SNP	A	TCGA-CX-A4AQ-01A-11D-A25D-08	31016314	39246165	151908111	37	68786											
GNRHR	2798	broad.mit.edu	37	chr4	68619758	68619758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggactgtaatgttccacatcCcatccagtggcatgacaatc	11	10	8	12	0	0	1	0	1	0	0	4	2	3	2	3	2	0	3	3	2	2	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:68619758C>T	ENST00000226413.4	-	1	320	c.296G>A	c.(295-297)gGg>gAg	p.G99E	RP11-453E17.1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.G99E|RP11-453E17.1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	99					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	GTTCCACATCCCATCCAGTGG	0.433													33	63					0	0	0	0	T	68619758	C	T	68619758	3	4	362	1	0	0	0	0	1	0	0	0	6600	623	22	4	702	4	GNRHR	4	68619758	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	29373593	68619758	122534518	38	68787											
TRAM1L1	133022	broad.mit.edu	37	chr4	118006319	118006319	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaccgtggccaaatctttGacaccataataatagaggga	17	8	8	8	1	1	2	0	1	1	1	1	3	1	3	3	2	1	0	3	2	6	4			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:118006319G>C	ENST00000310754.4	-	1	417	c.231C>G	c.(229-231)gtC>gtG	p.V77V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	77					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CCAAATCTTTGACACCATAAT	0.438													13	17					0	0	0	0	C	118006319	G	C	118006319	2	2	362	1	0	0	0	0	0	0	0	1	16547	1277	45	2		2	TRAM1L1	4	118006319	Silent	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	49386561	118006319	73147957	39	68788											
FABP2	2169	broad.mit.edu	37	chr4	120241875	120241875	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaaaggtgacaccaagttCaaaaacaacttcaatgtttc	17	11	5	8	0	2	1	2	1	0	0	3	1	2	1	1	1	2	2	1	1	7	4			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:120241875C>G	ENST00000274024.3	-	2	477	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	64							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						ACACCAAGTTCAAAAACAACT	0.343													22	43					0	0	0	0	G	120241875	C	G	120241875	3	3	362	1	0	0	0	0	1	0	0	0	5398	835	29	2	220	2	FABP2	4	120241875	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	2235556	120241875	70912401	40	68789											
TBC1D9	23158	broad.mit.edu	37	chr4	141543760	141543760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagcttgatgtcctcCatttgtcctccaagggagtg	6	13	9	13	0	0	1	0	1	0	0	6	2	6	2	6	1	1	1	6	1	1	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:141543760C>T	ENST00000442267.2	-	21	3464	c.3390G>A	c.(3388-3390)atG>atA	p.M1130I		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1130						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGATGTCCTCCATTTGTCCTC	0.632													22	66					0	0	0	0	T	141543760	C	T	141543760	3	4	362	1	0	0	0	0	1	0	0	0	15721	594	21	4	414	4	TBC1D9	4	141543760	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	21301885	141543760	49610516	41	68790											
ADCY2	108	broad.mit.edu	37	chr5	7709416	7709416	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgcatgacccggtacttGgagtcctggggggcagccaa	7	7	15	12	2	0	1	0	1	0	0	2	2	2	2	4	5	2	3	4	5	2	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:7709416G>A	ENST00000338316.4	+	10	1583	c.1494G>A	c.(1492-1494)ttG>ttA	p.L498L	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.L318L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	498					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCCGGTACTTGGAGTCCTGGG	0.612													9	21					0	0	0	0	A	7709416	G	A	7709416	2	1	362	1	0	0	0	0	0	0	0	1	294	1339	47	4		4	ADCY2	5	7709416	Silent	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08		7709416	173205844	42	68791											
PRDM9	56979	broad.mit.edu	37	chr5	23526949	23526949	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccctatgtctgcagggaGtgtgggcggggctttagctg	6	10	17	8	1	1	0	0	0	1	0	1	1	1	1	1	4	3	3	1	4	3	3			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:23526949G>A	ENST00000296682.3	+	11	1934	c.1752G>A	c.(1750-1752)gaG>gaA	p.E584E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	584					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCTGCAGGGAGTGTGGGCGGG	0.592										HNSCC(3;0.000094)			20	73					0	0	0	0	A	23526949	G	A	23526949	2	1	362	1	0	0	0	0	0	0	0	1	12543	1020	36	4		4	PRDM9	5	23526949	Silent	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	15817533	23526949	157388311	43	68792											
AMACR	23600	broad.mit.edu	37	chr5	34005991	34005991	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctctgggcccagctggagTttctccatgacaccttaaga	9	11	9	12	0	2	2	0	1	2	1	4	3	2	3	3	2	1	2	3	2	1	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:34005991T>C	ENST00000335606.6	-	2	349	c.261A>G	c.(259-261)aaA>aaG	p.K87K	AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000441713.2_Silent_p.K87K|AMACR_ENST00000382085.3_Silent_p.K87K|AMACR_ENST00000502637.1_Silent_p.K87K|AMACR_ENST00000382072.2_Silent_p.K87K	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	87					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CCAGCTGGAGTTTCTCCATGA	0.458													17	36					0	0	0	0	C	34005991	T	C	34005991	2	2	362	1	0	0	0	0	0	0	0	1	562	1722	60	5		5	AMACR	5	34005991	Silent	SNP	T	TCGA-CX-A4AQ-01A-11D-A25D-08	10479042	34005991	146909269	44	68793											
OXCT1	5019	broad.mit.edu	37	chr5	41862853	41862853	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaggaacaaacacatccCtgaaatattaaaaaaaaaaa	26	5	4	6	0	0	1	0	1	0	0	1	3	1	2	1	1	2	0	1	1	12	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:41862853C>A	ENST00000196371.5	-	2	239		c.e2-1			NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1						cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	AAACACATCCCTGaaatatta	0.338													17	17					3.41278e-10	3.84615e-10	1	0	A	41862853	C	A	41862853	5	1	362	1	0	0	0	0	0	0	1	0	11400	695	24	4	1548	4	OXCT1	5	41862853	Splice_Site	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	7856862	41862853	139052407	45	68794											
PCSK1	5122	broad.mit.edu	37	chr5	95734729	95734729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgataacttctccattaGctttcagggctctaaataca	13	13	5	10	0	3	1	1	1	2	0	4	1	3	1	1	1	3	2	1	1	6	6			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:95734729G>T	ENST00000311106.3	-	11	1679	c.1442C>A	c.(1441-1443)gCt>gAt	p.A481D	PCSK1_ENST00000508626.1_Missense_Mutation_p.A434D|PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	481					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTCCATTAGCTTTCAGGGC	0.348													4	24					0.00909568	0.00942764	1	0	T	95734729	G	T	95734729	3	4	362	1	0	0	0	0	1	0	0	0	11671	971	34	4	835	4	PCSK1	5	95734729	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	53871876	95734729	85180531	46	68795											
PCDHB2	56133	broad.mit.edu	37	chr5	140474771	140474771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacgtaaatgatcattccCcagttttcctagacaaagaa	14	10	8	9	1	1	3	1	1	0	2	3	4	3	4	3	1	0	2	3	1	5	5			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:140474771C>A	ENST00000194155.4	+	1	545	c.397C>A	c.(397-399)Cca>Aca	p.P133T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		133	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATCATTCCCCAGTTTTCCT	0.438													29	39					5.61819e-17	6.5392e-17	1	0	A	140474771	C	A	140474771	3	1	362	1	0	0	0	0	1	0	0	0	11613	623	22	4	399	4	PCDHB2	5	140474771	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	44740042	140474771	40440489	47	68796											
HIVEP1	3096	broad.mit.edu	37	chr6	12164516	12164516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggccaaccagcgtccaCgtcacaacctctgctgaagg	11	5	10	15	2	2	1	1	1	1	0	3	1	3	1	4	2	4	1	4	2	3	0			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:12164516C>T	ENST00000379388.2	+	9	8311	c.7979C>T	c.(7978-7980)aCg>aTg	p.T2660M	HIVEP1_ENST00000541134.1_Missense_Mutation_p.T525M	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2660					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCAGCGTCCACGTCACAACCT	0.537													18	29					0	0	0	0	T	12164516	C	T	12164516	3	4	362	1	0	0	0	0	1	0	0	0	7236	536	19	1	8009	1	HIVEP1	6	12164516	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08		12164516	158950551	48	68797											
HIST1H1E	3008	broad.mit.edu	37	chr6	26157199	26157199	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagcgaaggccaaagcagTtaaacccaaggcggctaaac	15	3	10	13	2	0	0	0	0	0	0	0	1	0	0	3	3	4	3	3	3	7	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:26157199T>C	ENST00000304218.3	+	1	641	c.581T>C	c.(580-582)gTt>gCt	p.V194A		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	194					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCCAAAGCAGTTAAACCCAAG	0.552													13	23					0	0	0	0	C	26157199	T	C	26157199	3	2	362	1	0	0	0	0	1	0	0	0	7176	1725	60	5	583	5	HIST1H1E	6	26157199	Missense_Mutation	SNP	T	TCGA-CX-A4AQ-01A-11D-A25D-08	13992683	26157199	144957868	49	68798											
OR2B2	81697	broad.mit.edu	37	chr6	27879751	27879751	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctatcaaagcacatgacgGccaggagaagacattctgtg	14	7	10	10	1	2	3	1	1	1	2	2	4	2	3	2	2	1	1	2	2	3	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:27879751G>T	ENST00000303324.2	-	1	423	c.347C>A	c.(346-348)gCc>gAc	p.A116D		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GCACATGACGGCCAGGAGAAG	0.483													23	63					4.54149e-19	5.32968e-19	1	0	T	27879751	G	T	27879751	3	4	362	1	0	0	0	0	1	0	0	0	11060	1203	42	4	730	4	OR2B2	6	27879751	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	1722552	27879751	143235316	50	68799											
SYNGAP1	8831	broad.mit.edu	37	chr6	33405967	33405967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtatgtcaccaaccattatCggatgctgtgtgcagtcttg	9	13	10	9	1	2	0	1	0	1	0	3	1	2	1	2	1	3	3	2	1	3	3			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:33405967C>T	ENST00000418600.2	+	8	1386	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R429W|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R370W	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	429					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CAACCATTATCGGATGCTGTG	0.522													50	115					0	0	0	0	T	33405967	C	T	33405967	3	4	362	1	0	0	0	0	1	0	0	0	15538	875	31	1	1315	1	SYNGAP1	6	33405967	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	5526216	33405967	137709100	51	68800											
PLA2G7	7941	broad.mit.edu	37	chr6	46678285	46678285	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttttatagcttaccttCagttgttccatatcaaactt	10	19	3	9	0	2	0	2	0	0	0	3	0	3	0	2	0	4	3	2	0	6	11			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:46678285C>A	ENST00000274793.7	-	8	970	c.774G>T	c.(772-774)ctG>ctT	p.L258L	PLA2G7_ENST00000537365.1_Silent_p.L258L|PLA2G7_ENST00000541026.1_Silent_p.L131L|PLA2G7_ENST00000538237.1_Silent_p.L213L	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	258					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AGCTTACCTTCAGTTGTTCCA	0.318													14	37					4.36969e-10	4.8858e-10	1	0	A	46678285	C	A	46678285	2	1	362	1	0	0	0	0	0	0	0	1	12081	813	29	2		2	PLA2G7	6	46678285	Silent	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	13272318	46678285	124436782	52	68801											
GPR110	266977	broad.mit.edu	37	chr6	46993670	46993686	+	Frame_Shift_Del	DEL	CTCAAATCTCTTTTCTC	CTCAAATCTCTTTTCTC	-																															tcaagagcttcagaaaatttCtcaaatctcttttctccttg																										TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:46993670_46993686delCTCAAATCTCTTTTCTC	ENST00000371253.2	-	4	396_412	c.181_197delGAGAAAAGAGATTTGAG	c.(181-198)afs	p.EKRDLR61fs	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Frame_Shift_Del_p.EKRDLR61fs	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	61					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAGAAAATTTCTCAAATCTCTTTTCTCCTTGGAATCT	0.433													17	37	---	---	---	---					-	46993686	CTCAAATCTCTTTTCTC	-	46993670	7	5	362	1	0	1	0	1	0	0	0	0	6676	913	32	0	2633	0	GPR110	6	46993670	Frame_Shift_Del	DEL	CTCAAATCTCTTTTCTC	TCGA-CX-A4AQ-01A-11D-A25D-08	315385	46993670	124121397	53	68802											
THSD7A	221981	broad.mit.edu	37	chr7	11676205	11676205	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacacgatgcaatcttgctGgcaaggaatgaggcaagcct	13	7	12	9	1	1	2	0	1	1	1	1	4	1	3	1	3	3	4	1	3	4	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr7:11676205G>C	ENST00000423059.3	-	2	825	c.574C>G	c.(574-576)Cag>Gag	p.Q192E		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	192						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAATCTTGCTGGCAAGGAATG	0.572										HNSCC(18;0.044)			12	26					0	0	0	0	C	11676205	G	C	11676205	3	2	362	1	0	0	0	0	1	0	0	0	15973	1357	47	4	4503	4	THSD7A	7	11676205	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08		11676205	147462458	54	68803											
GCK	2645	broad.mit.edu	37	chr7	44185127	44185127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtacacggagccatccaCgcccacagtgatgcgcatta	10	8	9	14	3	0	1	0	1	0	0	1	2	1	2	3	1	3	2	3	1	2	3			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr7:44185127C>T	ENST00000403799.3	-	9	1691	c.1222G>A	c.(1222-1224)Gtg>Atg	p.V408M	GCK_ENST00000437084.1_Missense_Mutation_p.V391M|GCK_ENST00000345378.2_Missense_Mutation_p.V409M|GCK_ENST00000395796.3_Missense_Mutation_p.V407M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	408					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GAGCCATCCACGCCCACAGTG	0.672													4	13					0	0	0	0	T	44185127	C	T	44185127	3	4	362	1	0	0	0	0	1	0	0	0	6342	536	19	1	183	1	GCK	7	44185127	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	32508922	44185127	114953536	55	68804											
STAG3L4	64940	broad.mit.edu	37	chr7	66767786	66767786	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggcgcggcgcgcctctcCgtgtggagcttcccacctgc	3	7	14	17	6	1	0	0	0	1	0	3	1	2	1	4	3	2	1	4	3	0	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr7:66767786C>T	ENST00000416602.2	+	0	179					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CGCGCCTCTCCGTGTGGAGCT	0.647													6	12					0	0	0	0	T	66767786	C	T	66767786	1	4	362	0	1	0	0	0	0	0	0	0	15337	667	23	1		1	STAG3L4	7	66767786	RNA	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	22582659	66767786	92370877	56	68805											
RELN	5649	broad.mit.edu	37	chr7	103341355	103341355	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatactttaaattacaacaaAcctaattttctctagctgaa	17	14	2	8	0	1	1	0	1	1	0	2	1	1	1	1	0	5	1	1	0	10	8			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr7:103341355A>G	ENST00000428762.1	-	9	1062		c.e9+1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTACAACAAACCTAATTTTC	0.368													18	57					0	0	0	0	G	103341355	A	G	103341355	5	3	362	1	0	0	0	0	0	0	1	0	13302	57	2	5	9706	5	RELN	7	103341355	Splice_Site	SNP	A	TCGA-CX-A4AQ-01A-11D-A25D-08	36573569	103341355	55797308	57	68806											
LZTS1	11178	broad.mit.edu	37	chr8	20107284	20107284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggatgtcagccccttccagGtcaacctccaagggctcccc	7	7	10	17	0	2	0	2	0	0	0	5	1	5	1	7	3	2	1	7	3	2	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr8:20107284G>T	ENST00000381569.1	-	4	2097	c.1740C>A	c.(1738-1740)gaC>gaA	p.D580E	LZTS1_ENST00000522290.1_Missense_Mutation_p.D521E|LZTS1_ENST00000265801.6_Missense_Mutation_p.D580E			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	580					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCCCTTCCAGGTCAACCTCCA	0.657													28	66					3.73148e-12	4.23896e-12	1	0	T	20107284	G	T	20107284	3	4	362	1	0	0	0	0	1	0	0	0	9203	1252	44	4	54	4	LZTS1	8	20107284	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08		20107284	126256738	58	68807											
BHLHE22	27319	broad.mit.edu	37	chr8	65494021	65494023	+	In_Frame_Del	DEL	GCA	GCA	-																															tagcggtagcggcagcggcgGcagcagcagcagcagcagca																								rs62519837		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr8:65494021_65494023delGCA	ENST00000321870.1	+	1	1208_1210	c.674_676delGCA	c.(673-678)ggc>g	p.GS225del	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	225	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S234delS(1)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709													3	3	---	---	---	---					-	65494023	GCA	-	65494021	7	5	362	1	0	1	0	1	0	0	0	0	1426	1203	42	0	676	0	BHLHE22	8	65494021	In_Frame_Del	DEL	GCA	TCGA-CX-A4AQ-01A-11D-A25D-08	45386737	65494021	80870001	59	68808											
COL22A1	169044	broad.mit.edu	37	chr8	139601575	139601575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagggtcacattggcctgggGgaccgggaggtcctgggagg	7	6	20	8	1	1	0	1	0	0	0	2	3	2	3	3	8	0	0	3	8	1	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr8:139601575G>A	ENST00000303045.6	-	65	5248	c.4802C>T	c.(4801-4803)cCc>cTc	p.P1601L	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1581L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1601	Collagen-like 16.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGGCCTGGGGGACCGGGAGG	0.617										HNSCC(7;0.00092)			3	31					0	0	0	0	A	139601575	G	A	139601575	3	1	362	1	0	0	0	0	1	0	0	0	3711	1232	43	4	82	4	COL22A1	8	139601575	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	74107554	139601575	6762447	60	68809											
SCRIB	23513	broad.mit.edu	37	chr8	144891092	144891092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtccttgcggatgagcCgctgcctcccgcctggcagg	3	9	15	14	3	0	1	0	1	0	0	2	2	2	2	5	3	3	2	5	3	0	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr8:144891092C>T	ENST00000356994.2	-	15	1808	c.1802G>A	c.(1801-1803)cGg>cAg	p.R601Q	SCRIB_ENST00000320476.3_Missense_Mutation_p.R601Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.R520Q	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	601	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCGGATGAGCCGCTGCCTCCC	0.647													51	66					0	0	0	0	T	144891092	C	T	144891092	3	4	362	1	0	0	0	0	1	0	0	0	14024	652	23	1	3257	1	SCRIB	8	144891092	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	5289517	144891092	1472930	61	68810											
PCSK5	5125	broad.mit.edu	37	chr9	78799654	78799654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaattccataactgtacaGaatgtagggatgggttaagg	13	11	12	5	0	0	2	0	1	0	1	1	3	1	3	1	3	2	3	1	3	6	5			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr9:78799654G>A	ENST00000545128.1	+	17	2801	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	PCSK5_ENST00000376752.4_Missense_Mutation_p.E755K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	755	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TAACTGTACAGAATGTAGGGA	0.338													8	31					0	0	0	0	A	78799654	G	A	78799654	3	1	362	1	0	0	0	0	1	0	0	0	11674	943	33	2	2329	2	PCSK5	9	78799654	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08		78799654	62413777	62	68811											
GTF3C4	9329	broad.mit.edu	37	chr9	135553821	135553821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caacgaatgccgggacgttgGcagtgtgctcctggctgtcc	6	9	14	12	3	0	0	0	0	0	0	2	2	2	1	3	3	3	4	3	3	2	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr9:135553821G>T	ENST00000372146.4	+	2	1379	c.815G>T	c.(814-816)gGc>gTc	p.G272V	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	272					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CGGGACGTTGGCAGTGTGCTC	0.517													65	90					6.52717e-41	7.72382e-41	1	0	T	135553821	G	T	135553821	3	4	362	1	0	0	0	0	1	0	0	0	6925	1203	42	4	821	4	GTF3C4	9	135553821	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	56754167	135553821	5659610	63	68812											
ZMIZ1	57178	broad.mit.edu	37	chr10	81058892	81058892	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggagcacaacctggcGgtcagcaaccatgtgttcca	9	7	11	14	2	1	0	1	0	0	0	2	1	2	1	4	3	4	3	4	3	2	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr10:81058892G>A	ENST00000334512.5	+	16	2324	c.1752G>A	c.(1750-1752)gcG>gcA	p.A584A		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	584					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACAACCTGGCGGTCAGCAACC	0.667													11	29					0	0	0	0	A	81058892	G	A	81058892	2	1	362	1	0	0	0	0	0	0	0	1	17791	1103	39	1		1	ZMIZ1	10	81058892	Silent	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08		81058892	54475855	64	68813											
SUFU	51684	broad.mit.edu	37	chr10	104359238	104359238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaggactcgagatcaacaGcaaacctgtccttccaccaa	14	6	8	13	1	1	2	1	0	0	2	4	5	3	3	4	1	3	1	4	1	3	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr10:104359238G>A	ENST00000369902.3	+	8	1125	c.959G>A	c.(958-960)aGc>aAc	p.S320N	SUFU_ENST00000369899.2_Missense_Mutation_p.S320N|SUFU_ENST00000423559.2_Missense_Mutation_p.S320N|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	320					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GAGATCAACAGCAAACCTGTC	0.602			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				29	67					0	0	0	0	A	104359238	G	A	104359238	3	1	362	1	0	0	0	0	1	0	0	0	15458	971	34	4	989	4	SUFU	10	104359238	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	23300346	104359238	31175509	65	68814											
MUC5B	727897	broad.mit.edu	37	chr11	1268938	1268938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggccggaggggcagtctgtGagcagcccctgggcctcgag	5	5	18	13	3	1	1	0	1	1	0	2	3	1	2	4	5	2	2	4	5	0	0			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:1268938G>A	ENST00000447027.1	+	31	10895	c.10837G>A	c.(10837-10839)Gag>Aag	p.E3613K	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.E3610K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3610	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCAGTCTGTGAGCAGCCCCT	0.677													10	58					0	0	0	0	A	1268938	G	A	1268938	3	1	362	1	0	0	0	0	1	0	0	0	10049	1291	45	2	10959	2	MUC5B	11	1268938	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08		1268938	133737578	66	68815											
CTSD	1509	broad.mit.edu	37	chr11	1782670	1782670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctccgacatggtccggcGgatggacgtgaacttgtgca	9	8	13	11	4	0	1	0	1	0	0	2	4	2	3	3	4	3	1	3	4	2	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:1782670G>A	ENST00000236671.2	-	2	229	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	AC068580.6_ENST00000449248.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	33					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGGTCCGGCGGATGGACGTG	0.662													8	32					0	0	0	0	A	1782670	G	A	1782670	3	1	362	1	0	0	0	0	1	0	0	0	4064	1116	39	1	1173	1	CTSD	11	1782670	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	513732	1782670	133223846	67	68816											
TRPM5	29850	broad.mit.edu	37	chr11	2433998	2433998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accgacctgccggatttcctCcagcaccagcgtaaagaccc	10	6	8	17	3	0	1	0	0	0	1	2	3	2	2	7	1	3	2	7	1	2	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:2433998C>T	ENST00000452833.1	-	15	2355	c.2347G>A	c.(2347-2349)Gag>Aag	p.E783K	TRPM5_ENST00000533060.1_Missense_Mutation_p.E781K|TRPM5_ENST00000155858.6_Missense_Mutation_p.E781K|TRPM5_ENST00000528453.1_Missense_Mutation_p.E781K			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	781						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CGGATTTCCTCCAGCACCAGC	0.652													9	8					0	0	0	0	T	2433998	C	T	2433998	3	4	362	1	0	0	0	0	1	0	0	0	16684	864	30	2	1196	2	TRPM5	11	2433998	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	651328	2433998	132572518	68	68817											
NELL1	4745	broad.mit.edu	37	chr11	21592399	21592399	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagaatgtgacaccagagtCacaagtcaatgtttagacca	15	8	8	10	0	2	4	2	1	0	3	2	4	2	4	3	0	0	1	3	0	4	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:21592399C>T	ENST00000298925.5	+	19	2307	c.2154C>T	c.(2152-2154)gtC>gtT	p.V718V	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Silent_p.V690V|NELL1_ENST00000325319.5_Silent_p.V633V|NELL1_ENST00000532434.1_Silent_p.V643V			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	690	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACACCAGAGTCACAAGTCAAT	0.468													37	113					0	0	0	0	T	21592399	C	T	21592399	2	4	362	1	0	0	0	0	0	0	0	1	10403	813	29	2		2	NELL1	11	21592399	Silent	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	19158401	21592399	113414117	69	68818											
EXT2	2132	broad.mit.edu	37	chr11	44151597	44151597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgctgttgtctccagagCatctgtggttgtaccagaag	7	15	11	8	0	2	2	0	0	2	2	3	2	2	2	2	1	3	5	2	1	2	5			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:44151597C>T	ENST00000395673.3	+	7	1237	c.1181C>T	c.(1180-1182)gCa>gTa	p.A394V	EXT2_ENST00000358681.4_Missense_Mutation_p.A361V|EXT2_ENST00000533608.1_Missense_Mutation_p.A361V|EXT2_ENST00000343631.3_Missense_Mutation_p.A361V	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	361					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTCTCCAGAGCATCTGTGGTT	0.423			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				23	35					0	0	0	0	T	44151597	C	T	44151597	3	4	362	1	0	0	0	0	1	0	0	0	5362	710	25	4	1207	4	EXT2	11	44151597	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	22559198	44151597	90854919	70	68819											
OR5L1	219437	broad.mit.edu	37	chr11	55579091	55579091	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatgattgcactgattcAggtcagctctcggctccaca	8	10	11	12	1	3	2	2	2	1	0	5	2	4	2	1	3	2	4	1	3	0	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:55579091A>T	ENST00000333973.2	+	1	238	c.149A>T	c.(148-150)cAg>cTg	p.Q50L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCACTGATTCAGGTCAGCTCT	0.483													67	259					0	0	0	0	T	55579091	A	T	55579091	3	4	362	1	0	0	0	0	1	0	0	0	11241	188	7	5	151	5	OR5L1	11	55579091	Missense_Mutation	SNP	A	TCGA-CX-A4AQ-01A-11D-A25D-08	11427494	55579091	79427425	71	68820											
OR8I2	120586	broad.mit.edu	37	chr11	55860982	55860982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttttcctgagcaatttaGcatttattgacatattttac	11	19	4	7	0	0	2	0	2	0	0	1	2	1	2	1	0	3	2	1	0	5	10			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:55860982G>T	ENST00000302124.2	+	1	230	c.199G>T	c.(199-201)Gca>Tca	p.A67S	OR8I2_ENST00000560768.1_Missense_Mutation_p.A67S			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GAGCAATTTAGCATTTATTGA	0.393													90	142					1.92282e-43	2.29446e-43	1	0	T	55860982	G	T	55860982	3	4	362	1	0	0	0	0	1	0	0	0	11311	971	34	4	201	4	OR8I2	11	55860982	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	281891	55860982	79145534	72	68821											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57070019	57070019	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctggcccctgatcgcTccacctggctgctgaagagc	5	9	12	15	1	0	3	0	2	0	1	2	3	1	3	4	2	3	4	4	2	1	0			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:57070019T>C	ENST00000532437.1	-	6	4908	c.4597A>G	c.(4597-4599)Agc>Ggc	p.S1533G	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1533G			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1533	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCCTGATCGCTCCACCTGGCT	0.642													5	20					0	0	0	0	C	57070019	T	C	57070019	3	2	362	1	0	0	0	0	1	0	0	0	16414	1551	54	5	612	5	TNKS1BP1	11	57070019	Missense_Mutation	SNP	T	TCGA-CX-A4AQ-01A-11D-A25D-08	1209037	57070019	77936497	73	68822											
MS4A1	931	broad.mit.edu	37	chr11	60230543	60230543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatgatcccagcagggatCtatgcacccatctgtgtgac	9	10	10	12	0	2	3	0	3	2	0	3	4	3	4	2	1	2	2	2	1	1	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:60230543C>T	ENST00000534668.1	+	3	517	c.228C>T	c.(226-228)atC>atT	p.I76I	MS4A1_ENST00000345732.4_Silent_p.I76I|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000389939.2_Silent_p.I76I|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000532073.1_Silent_p.I76I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	76	Epitope 1.				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CAGCAGGGATCTATGCACCCA	0.512													54	77					0	0	0	0	T	60230543	C	T	60230543	2	4	362	1	0	0	0	0	0	0	0	1	9924	903	32	2		2	MS4A1	11	60230543	Silent	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	3160524	60230543	74775973	74	68823											
AHNAK	79026	broad.mit.edu	37	chr11	62289209	62289209	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatattcacatcaggaacaTcaatgtccaccttgggtcct	11	11	7	12	1	3	0	3	0	0	0	5	2	5	1	3	2	1	0	3	2	3	3			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:62289209T>C	ENST00000378024.4	-	5	12954	c.12680A>G	c.(12679-12681)gAt>gGt	p.D4227G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4227					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCAGGAACATCAATGTCCAC	0.512													161	224					0	0	0	0	C	62289209	T	C	62289209	3	2	362	1	0	0	0	0	1	0	0	0	414	1435	50	5	5112	5	AHNAK	11	62289209	Missense_Mutation	SNP	T	TCGA-CX-A4AQ-01A-11D-A25D-08	2058666	62289209	72717307	75	68824											
HEPACAM	220296	broad.mit.edu	37	chr11	124794777	124794777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtctcgatagtcaggccGcagggtgccgatgacctctg	7	8	14	12	4	3	1	1	1	2	0	4	3	3	1	3	3	1	1	3	3	1	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:124794777G>A	ENST00000298251.4	-	2	679	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	92	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TAGTCAGGCCGCAGGGTGCCG	0.592													53	49					0	0	0	0	A	124794777	G	A	124794777	3	1	362	1	0	0	0	0	1	0	0	0	7102	1086	38	1	1000	1	HEPACAM	11	124794777	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	62505568	124794777	10211739	76	68825											
C1R	715	broad.mit.edu	37	chr12	7188366	7188366	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgatttcctagcttcaTgagctcttccacatttgtgt	6	16	10	9	0	2	2	1	2	1	0	4	2	4	2	2	2	2	2	2	2	1	5			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr12:7188366T>A	ENST00000542285.1	-	11	1581	c.1432A>T	c.(1432-1434)Atg>Ttg	p.M478L				P00736	C1R_HUMAN	complement component 1, r subcomponent	530	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTAGCTTCATGAGCTCTTCC	0.562													29	71					0	0	0	0	A	7188366	T	A	7188366	3	1	362	1	0	0	0	0	1	0	0	0	1991	1464	51	5	533	5	C1R	12	7188366	Missense_Mutation	SNP	T	TCGA-CX-A4AQ-01A-11D-A25D-08		7188366	126663529	77	68826											
ETV6	2120	broad.mit.edu	37	chr12	11992150	11992153	+	Frame_Shift_Del	DEL	GCCA	GCCA	-																															gaaaatgagttttctttaagGccaattgacagcaacacgtt																										TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr12:11992150_11992153delGCCA	ENST00000396373.4	+	3	514_517	c.240_243delGCCA	c.(238-243)agfs	p.RP80fs		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	80	PNT.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TTTCTTTAAGGCCAATTGACAGCA	0.49			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								14	42	---	---	---	---					-	11992153	GCCA	-	11992150	7	5	362	1	0	1	0	1	0	0	0	0	5321	1194	42	0	250	0	ETV6	12	11992150	Frame_Shift_Del	DEL	GCCA	TCGA-CX-A4AQ-01A-11D-A25D-08	4803784	11992150	121859745	78	68827											
DUSP6	1848	broad.mit.edu	37	chr12	89744605	89744605	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaggctggctgttggAcagcggactaccatccgagt	10	7	15	9	2	0	0	0	0	0	0	1	5	1	3	2	5	2	3	2	5	3	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr12:89744605A>T	ENST00000279488.7	-	2	1829	c.598T>A	c.(598-600)Tcc>Acc	p.S200T	DUSP6_ENST00000547291.1_Missense_Mutation_p.S75T|DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547140.1_5'UTR	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	200					dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TGGCTGTTGGACAGCGGACTA	0.572													20	83					0	0	0	0	T	89744605	A	T	89744605	3	4	362	1	0	0	0	0	1	0	0	0	4865	275	10	5	555	5	DUSP6	12	89744605	Missense_Mutation	SNP	A	TCGA-CX-A4AQ-01A-11D-A25D-08	77752455	89744605	44107290	79	68828											
NUDT4	11163	broad.mit.edu	37	chr12	93789270	93789270	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttttttaataggctggAgtcaaaggaaaactaggcag	14	12	10	5	0	2	0	1	0	1	0	2	2	2	2	0	4	1	2	0	4	6	6			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr12:93789270A>G	ENST00000337179.5	+	3	656	c.216A>G	c.(214-216)ggA>ggG	p.G72G	NUDT4_ENST00000415493.2_Silent_p.G72G|NUDT4_ENST00000549992.1_Silent_p.G20G|NUDT4_ENST00000548662.1_Silent_p.G20G|NUDT4_ENST00000547014.1_Silent_p.G20G	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	72	Nudix hydrolase.				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						AATAGGCTGGAGTCAAAGGAA	0.279													4	34					0	0	0	0	G	93789270	A	G	93789270	2	3	362	1	0	0	0	0	0	0	0	1	10812	291	11	5		5	NUDT4	12	93789270	Silent	SNP	A	TCGA-CX-A4AQ-01A-11D-A25D-08	4044665	93789270	40062625	80	68829											
SYNE2	23224	broad.mit.edu	37	chr14	64493338	64493338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggggatgccagaatagaGaccatcatgaagcaggctga	15	5	14	7	0	1	4	1	2	0	2	1	7	1	5	2	3	2	2	2	3	4	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr14:64493338G>A	ENST00000358025.3	+	42	6524	c.6294G>A	c.(6292-6294)gaG>gaA	p.E2098E	SYNE2_ENST00000344113.4_Silent_p.E2098E|SYNE2_ENST00000554584.1_Silent_p.E2098E|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2098					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAGAATAGAGACCATCATGA	0.443													5	12					0	0	0	0	A	64493338	G	A	64493338	2	1	362	1	0	0	0	0	0	0	0	1	15537	933	33	2		2	SYNE2	14	64493338	Silent	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08		64493338	42856202	81	68830											
DENND4A	10260	broad.mit.edu	37	chr15	65995210	65995210	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaagaatgtgataaagtaCctgttttgttcttctgaaca	13	15	8	5	0	2	4	0	3	2	1	2	4	2	4	1	0	2	3	1	0	6	6			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr15:65995210C>T	ENST00000443035.3	-	16	2439		c.e16+1		DENND4A_ENST00000431932.2_Splice_Site	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGATAAAGTACCTGTTTTGTT	0.313													28	71					0	0	0	0	T	65995210	C	T	65995210	5	4	362	1	0	0	0	0	0	0	1	0	4470	521	18	4	3568	4	DENND4A	15	65995210	Splice_Site	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08		65995210	36536182	82	68831											
AKAP13	11214	broad.mit.edu	37	chr15	86273794	86273794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tactcttgttggaagagaagGagatgattttccgggacatg	11	12	13	5	1	1	3	0	1	1	2	2	7	2	5	1	3	1	1	1	3	3	5			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr15:86273794G>C	ENST00000394518.2	+	30	7233	c.7138G>C	c.(7138-7140)Gag>Cag	p.E2380Q	AKAP13_ENST00000361243.2_Missense_Mutation_p.E2384Q|AKAP13_ENST00000394510.2_Missense_Mutation_p.E625Q|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2380	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAAGAGAAGGAGATGATTTT	0.463											OREG0023425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	73					0	0	0	0	C	86273794	G	C	86273794	3	2	362	1	0	0	0	0	1	0	0	0	449	1175	41	2	7322	2	AKAP13	15	86273794	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	20278584	86273794	16257598	83	68832											
TMEM8A	58986	broad.mit.edu	37	chr16	425405	425405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaggcagcattcacgcaggCcactacgacggtctcgttcc	8	7	11	15	5	2	0	1	0	1	0	4	2	3	0	2	3	2	4	2	3	1	3			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:425405C>T	ENST00000431232.2	-	7	1415	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	TMEM8A_ENST00000250930.3_Missense_Mutation_p.A226T	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	419					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TTCACGCAGGCCACTACGACG	0.647													18	52					0	0	0	0	T	425405	C	T	425405	3	4	362	1	0	0	0	0	1	0	0	0	16308	739	26	4	1088	4	TMEM8A	16	425405	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08		425405	89929348	84	68833											
TSC2	7249	broad.mit.edu	37	chr16	2127694	2127694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccgaggccttccggtgccGcagcatcagtgtgtctgaac	7	8	13	13	3	2	1	1	1	1	0	3	2	3	1	4	2	4	2	4	2	1	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:2127694G>A	ENST00000219476.3	+	26	3563	c.2933G>A	c.(2932-2934)cGc>cAc	p.R978H	TSC2_ENST00000401874.2_Intron|TSC2_ENST00000353929.4_Intron|TSC2_ENST00000568454.1_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000350773.4_Missense_Mutation_p.R978H|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000568366.1_3'UTR	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	978					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTCCGGTGCCGCAGCATCAGT	0.607			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				18	83					0	0	0	0	A	2127694	G	A	2127694	3	1	362	1	0	0	0	0	1	0	0	0	16701	1087	38	1	3031	1	TSC2	16	2127694	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	1702289	2127694	88227059	85	68834											
RNPS1	10921	broad.mit.edu	37	chr16	2312322	2312322	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcggcttcatctggattCtcaaactctacgtacgcata	9	14	6	12	3	5	0	2	0	4	0	7	1	5	1	0	2	3	3	0	2	4	6			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:2312322C>G	ENST00000565678.1	-	6	1178	c.633G>C	c.(631-633)gaG>gaC	p.E211D	RNPS1_ENST00000567147.1_Missense_Mutation_p.E188D|RNPS1_ENST00000301730.8_Missense_Mutation_p.E211D|AC009065.1_ENST00000454671.1_Missense_Mutation_p.F172L|RNPS1_ENST00000566458.1_Missense_Mutation_p.E188D|RNPS1_ENST00000566397.1_Missense_Mutation_p.E34D|RNPS1_ENST00000320225.5_Missense_Mutation_p.E211D|RNPS1_ENST00000569598.2_Missense_Mutation_p.E117D|RNPS1_ENST00000397086.2_Missense_Mutation_p.E211D|RNPS1_ENST00000561718.1_Missense_Mutation_p.E34D|RNPS1_ENST00000568631.1_Missense_Mutation_p.E211D			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	211	Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						CATCTGGATTCTCAAACTCTA	0.527													27	78					0	0	0	0	G	2312322	C	G	2312322	3	3	362	1	0	0	0	0	1	0	0	0	13596	912	32	2	296	2	RNPS1	16	2312322	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	184628	2312322	88042431	86	68835											
CYLD	1540	broad.mit.edu	37	chr16	50811745	50811745	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttcctataggatctacctCagaccctggaaatagaaaca	14	10	7	10	0	2	2	1	0	1	2	3	4	3	4	3	2	2	1	3	2	6	5			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:50811745C>G	ENST00000540145.1	+	8	1446	c.1031C>G	c.(1030-1032)tCa>tGa	p.S344*	CYLD_ENST00000569418.1_Nonsense_Mutation_p.S341*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S341*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.S344*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.S344*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S341*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.S341*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S341*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	344	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGATCTACCTCAGACCCTGGA	0.284			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				22	43					0	0	0	0	G	50811745	C	G	50811745	4	3	362	1	0	0	0	0	0	1	0	0	4175	838	29	2	1053	2	CYLD	16	50811745	Nonsense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	48499423	50811745	39543008	87	68836											
HYDIN	54768	broad.mit.edu	37	chr16	70902541	70902541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacttgactgtgtgcatgcGgtcatcccagtcggggacct	6	10	12	13	2	1	1	1	1	0	0	3	2	2	2	3	3	2	1	3	3	0	1	rs12102644		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:70902541G>A	ENST00000393567.2	-	66	11392	c.11242C>T	c.(11242-11244)Cgc>Tgc	p.R3748C		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3748										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTGTGCATGCGGTCATCCCAG	0.507													13	15					0	0	0	0	A	70902541	G	A	70902541	3	1	362	1	0	0	0	0	1	0	0	0	7520	1116	39	1	4207	1	HYDIN	16	70902541	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	20090796	70902541	19452212	88	68837											
TP53	7157	broad.mit.edu	37	chr17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcttgcggagattctcttCctctgtgcgccggtctctcc	2	16	9	14	3	4	1	0	0	4	1	8	2	6	1	3	2	2	0	3	2	0	4			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:7577082C>A	ENST00000420246.2	-	8	988	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTCTCTTCCTCTGTGCGC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	17					1.99824e-07	2.18269e-07	1	0	A	7577082	C	A	7577082	4	1	362	1	0	0	0	0	0	1	0	0	16476	864	30	2	430	2	TP53	17	7577082	Nonsense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08		7577082	73618128	89	68838											
TLCD1	116238	broad.mit.edu	37	chr17	27051812	27051812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgattttcatcatcatgcGaatggtgaggaagatgttgc	11	13	11	6	1	3	3	3	2	0	1	3	5	3	4	0	2	2	1	0	2	2	3			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:27051812G>A	ENST00000292090.3	-	4	570	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	TLCD1_ENST00000394933.3_Missense_Mutation_p.R107C	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	154	TLC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					ATCATCATGCGAATGGTGAGG	0.507													73	103					0	0	0	0	A	27051812	G	A	27051812	3	1	362	1	0	0	0	0	1	0	0	0	16031	1058	37	1	287	1	TLCD1	17	27051812	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	19474730	27051812	54143398	90	68839											
SLFN11	91607	broad.mit.edu	37	chr17	33690703	33690703	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgcataactctctccttctCttggtctctctgaattttct	5	18	4	14	1	5	1	0	1	5	0	9	1	6	1	2	1	1	1	2	1	2	5			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:33690703C>G	ENST00000394566.1	-	4	396	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	SLFN11_ENST00000308377.4_Missense_Mutation_p.E42Q	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	42						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCTCCTTCTCTTGGTCTCTC	0.468													95	103					0	0	0	0	G	33690703	C	G	33690703	3	3	362	1	0	0	0	0	1	0	0	0	14821	922	32	2	2597	2	SLFN11	17	33690703	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	6638891	33690703	47504507	91	68840											
UTP18	51096	broad.mit.edu	37	chr17	49365466	49365466	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccaaagccaataaaagctAtaatgaacttggttacaggt	17	9	7	8	0	0	1	0	1	0	0	0	1	0	1	2	2	4	2	2	2	8	5			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:49365466A>G	ENST00000225298.7	+	11	1462	c.1405A>G	c.(1405-1407)Ata>Gta	p.I469V		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	469					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			AATAAAAGCTATAATGAACTT	0.338													9	44					0	0	0	0	G	49365466	A	G	49365466	3	3	362	1	0	0	0	0	1	0	0	0	17194	449	16	5	1447	5	UTP18	17	49365466	Missense_Mutation	SNP	A	TCGA-CX-A4AQ-01A-11D-A25D-08	15674763	49365466	31829744	92	68841											
CACNG4	27092	broad.mit.edu	37	chr17	65026799	65026799	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttaagaccaaacgggaattCcttaaggcgtcttcctcttc	10	13	7	11	2	2	1	0	0	2	1	5	2	4	2	3	2	1	0	3	2	4	6			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:65026799C>T	ENST00000262138.3	+	4	665	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	221					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AACGGGAATTCCTTAAGGCGT	0.532													54	74					0	0	0	0	T	65026799	C	T	65026799	2	4	362	1	0	0	0	0	0	0	0	1	2584	854	30	2		2	CACNG4	17	65026799	Silent	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	15661333	65026799	16168411	93	68842											
HELZ	9931	broad.mit.edu	37	chr17	65103618	65103620	+	In_Frame_Del	DEL	ATC	ATC	-																															acttcaatgtctctgctgttAtcattaaagttagaaaagtg																										TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:65103618_65103620delATC	ENST00000358691.5	-	31	5072_5074	c.4906_4908delGAT	c.(4906-4908)del	p.D1636del	HELZ_ENST00000580168.1_In_Frame_Del_p.D1637del	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTCTGCTGTTATCATTAAAGTTA	0.473													21	189	---	---	---	---					-	65103620	ATC	-	65103618	7	5	362	1	0	1	0	1	0	0	0	0	7099	446	16	0	932	0	HELZ	17	65103618	In_Frame_Del	DEL	ATC	TCGA-CX-A4AQ-01A-11D-A25D-08	76819	65103618	16091592	94	68843											
HELZ	9931	broad.mit.edu	37	chr17	65116533	65116533	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacttaccatttcgattttGctcatgttgatccttctcct	7	18	4	12	1	2	1	1	1	1	0	5	2	3	1	3	0	3	2	3	0	2	6			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:65116533G>A	ENST00000358691.5	-	27	3992	c.3826C>T	c.(3826-3828)Caa>Taa	p.Q1276*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.Q1277*	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTTCGATTTTGCTCATGTTGA	0.428													19	44					0	0	0	0	A	65116533	G	A	65116533	4	1	362	1	0	0	0	0	0	1	0	0	7099	1328	46	4	2030	4	HELZ	17	65116533	Nonsense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	12915	65116533	16078677	95	68844											
CSNK1D	1453	broad.mit.edu	37	chr17	80206813	80206813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggacgaggagatgttgaCgggggccccgcggtgcagcc	6	5	19	11	5	0	2	0	1	0	1	1	5	0	3	3	5	2	2	3	5	0	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:80206813C>T	ENST00000314028.6	-	8	1484	c.1135G>A	c.(1135-1137)Gtc>Atc	p.V379I	CSNK1D_ENST00000398519.5_Missense_Mutation_p.V379I|CSNK1D_ENST00000392334.2_Missense_Mutation_p.V379I	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	379					circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GAGATGTTGACGGGGGCCCCG	0.662													9	5					0	0	0	0	T	80206813	C	T	80206813	3	4	362	1	0	0	0	0	1	0	0	0	3984	536	19	1	157	1	CSNK1D	17	80206813	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	15090280	80206813	988397	96	68845											
KDSR	2531	broad.mit.edu	37	chr18	61022460	61022460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggtactaacttcaagatCttcaaattttcctgacactg	14	13	5	9	0	3	2	2	1	1	1	4	2	4	2	1	1	2	1	1	1	5	6			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr18:61022460C>T	ENST00000406396.3	-	5	785	c.394G>A	c.(394-396)Gat>Aat	p.D132N	KDSR_ENST00000326575.5_Missense_Mutation_p.D132N	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	132					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						ACTTCAAGATCTTCAAATTTT	0.408													51	82					0	0	0	0	T	61022460	C	T	61022460	3	4	362	1	0	0	0	0	1	0	0	0	8192	913	32	2	628	2	KDSR	18	61022460	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08		61022460	17054788	97	68846											
SALL3	27164	broad.mit.edu	37	chr18	76753497	76753497	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcccctacggcatgtcGctgccccccgagaagcccgt	6	6	11	18	4	0	1	0	0	0	1	2	2	1	1	6	2	3	3	6	2	2	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr18:76753497G>T	ENST00000536229.3	+	1	1816	c.1107G>T	c.(1105-1107)tcG>tcT	p.S369S	SALL3_ENST00000575389.2_Silent_p.S502S|SALL3_ENST00000537592.2_Silent_p.S502S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACGGCATGTCGCTGCCCCCCG	0.672													5	11					0.014758	0.0151858	1	0	T	76753497	G	T	76753497	2	4	362	1	0	0	0	0	0	0	0	1	13897	1074	38	3		3	SALL3	18	76753497	Silent	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	15731037	76753497	1323751	98	68847											
GCDH	2639	broad.mit.edu	37	chr19	13007751	13007751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggctgcctgaacaacgccCggtacggcatcgcgtggggc	6	6	15	14	6	0	1	0	1	0	0	2	1	0	1	2	5	4	3	2	5	3	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr19:13007751C>T	ENST00000222214.5	+	9	1091	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	GCDH_ENST00000457854.1_Missense_Mutation_p.R294W|GCDH_ENST00000591470.1_Missense_Mutation_p.R294W|GCDH_ENST00000422947.2_Missense_Mutation_p.R250W			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	294	Substrate binding.		R -> W (in GA1).		lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GAACAACGCCCGGTACGGCAT	0.617													10	27					0	0	0	0	T	13007751	C	T	13007751	3	4	362	1	0	0	0	0	1	0	0	0	6336	643	23	1	910	1	GCDH	19	13007751	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08		13007751	46121232	99	68848											
NWD1	284434	broad.mit.edu	37	chr19	16923646	16923655	+	Frame_Shift_Del	DEL	TGGAGTGTGC	TGGAGTGTGC	-																															aggatcgctctatacttgttTggagtgtgctggatggtgag																										TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr19:16923646_16923655delTGGAGTGTGC	ENST00000552788.1	+	17	4378_4387	c.4378_4387delTGGAGTGTGC	c.(4378-4389)tgfs	p.WSVL1460fs	NWD1_ENST00000524140.2_Intron|NWD1_ENST00000549814.1_Frame_Shift_Del_p.WSVL1418fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.WSVL1254fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.WSVL1325fs|NWD1_ENST00000379808.3_Intron			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1460							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TATACTTGTTTGGAGTGTGCTGGATGGTGA	0.495													17	101	---	---	---	---					-	16923655	TGGAGTGTGC	-	16923646	7	5	362	1	0	1	0	1	0	0	0	0	10852	1812	63	0	4031	0	NWD1	19	16923646	Frame_Shift_Del	DEL	TGGAGTGTGC	TCGA-CX-A4AQ-01A-11D-A25D-08	3915895	16923646	42205337	100	68849											
ZNF486	90649	broad.mit.edu	37	chr19	20296808	20296808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaacaggtattattgtctCtaagccagacctgatcacct	12	12	7	10	0	2	3	1	2	1	1	3	3	2	3	3	1	2	1	3	1	4	4			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr19:20296808C>G	ENST00000335117.8	+	3	227	c.170C>G	c.(169-171)tCt>tGt	p.S57C	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.S57C|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ATTATTGTCTCTAAGCCAGAC	0.363													7	43					0	0	0	0	G	20296808	C	G	20296808	3	3	362	1	0	0	0	0	1	0	0	0	18034	913	32	2	180	2	ZNF486	19	20296808	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	3373162	20296808	38832175	101	68850											
ARHGAP33	115703	broad.mit.edu	37	chr19	36279204	36279204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccagcctacggaaggggggGcgagctccaccgagggtcct	7	4	17	13	3	0	0	0	0	0	0	2	3	2	1	5	5	3	1	5	5	2	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr19:36279204G>C	ENST00000007510.4	+	21	3881	c.3737G>C	c.(3736-3738)gGc>gCc	p.G1246A	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G1085A|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G1082A			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1246					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GGAAGGGGGGGCGAGCTCCAC	0.692													3	14					0	0	0	0	C	36279204	G	C	36279204	3	2	362	1	0	0	0	0	1	0	0	0	884	1203	42	4	3819	4	ARHGAP33	19	36279204	Missense_Mutation	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	15982396	36279204	22849779	102	68851											
ZNF404	342908	broad.mit.edu	37	chr19	44377478	44377478	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttcacatttatatggtttCtcaccagaatgaattttctt	10	19	5	7	0	3	2	2	1	2	1	4	2	3	2	1	1	0	2	1	1	4	8			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr19:44377478C>T	ENST00000587539.1	-	3	887	c.888G>A	c.(886-888)gaG>gaA	p.E296E	ZNF404_ENST00000324394.6_Silent_p.E294E	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TATATGGTTTCTCACCAGAAT	0.363													11	17					0	0	0	0	T	44377478	C	T	44377478	2	4	362	1	0	0	0	0	0	0	0	1	17981	912	32	2		2	ZNF404	19	44377478	Silent	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	8098274	44377478	14751505	103	68852											
KIAA1755	85449	broad.mit.edu	37	chr20	36841655	36841655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcagcctctgcagcctggCcagcttcctggggtggagag	5	9	14	13	0	2	1	1	0	1	1	3	2	3	1	4	4	4	2	4	4	0	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr20:36841655C>A	ENST00000279024.4	-	14	3663	c.3392G>T	c.(3391-3393)gGc>gTc	p.G1131V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1131										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGCAGCCTGGCCAGCTTCCTG	0.632													12	29					3.07112e-06	3.23036e-06	1	0	A	36841655	C	A	36841655	3	1	362	1	0	0	0	0	1	0	0	0	8308	739	26	4	214	4	KIAA1755	20	36841655	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08		36841655	26183865	104	68853											
PLTP	5360	broad.mit.edu	37	chr20	44531153	44531153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacgctagcagtgacagAgatggtggtgccagagggct	9	7	18	7	1	0	4	0	2	0	2	0	5	0	4	1	4	2	3	1	4	1	1			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr20:44531153A>G	ENST00000542937.1	-	10	1627	c.1093T>C	c.(1093-1095)Tct>Cct	p.S365P	PLTP_ENST00000354050.4_Missense_Mutation_p.S293P|PLTP_ENST00000420868.2_Missense_Mutation_p.S250P|PLTP_ENST00000372420.1_Missense_Mutation_p.S257P|PLTP_ENST00000372431.3_Missense_Mutation_p.S345P|PLTP_ENST00000477313.1_Missense_Mutation_p.S345P			P55058	PLTP_HUMAN	phospholipid transfer protein	345					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GCAGTGACAGAGATGGTGGTG	0.632													20	46					0	0	0	0	G	44531153	A	G	44531153	3	3	362	1	0	0	0	0	1	0	0	0	12186	304	11	5	472	5	PLTP	20	44531153	Missense_Mutation	SNP	A	TCGA-CX-A4AQ-01A-11D-A25D-08	7689498	44531153	18494367	105	68854											
PTPN1	5770	broad.mit.edu	37	chr20	49195168	49195169	+	Splice_Site	INS	-	-	A																															gatacctgcctcttgctggtINSaaggaggccctcgcgggtgc																										TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr20:49195168_49195169insA	ENST00000371621.3	+	6	876		c.e6+2		PTPN1_ENST00000541713.1_Splice_Site	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1						blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	CTCTTGCTGGTAAGGAGGCCCT	0.584													16	32	---	---	---	---					A	49195169	-	A	49195168	8	5	362	1	0	1	1	0	0	0	1	0	12859	1652	57	0	726	0	PTPN1	20	49195168	Splice_Site	INS	-	TCGA-CX-A4AQ-01A-11D-A25D-08	4664015	49195168	13830352	106	68855											
SYNJ1	8867	broad.mit.edu	37	chr21	34067440	34067440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaaacctggtcccagctCgttcacagcttaatcttgaa	11	12	6	12	1	2	1	1	1	1	0	4	1	3	1	2	1	3	3	2	1	4	4			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr21:34067440C>A	ENST00000382499.2	-	5	748	c.749G>T	c.(748-750)cGa>cTa	p.R250L	SYNJ1_ENST00000433931.2_Missense_Mutation_p.R250L|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R211L|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R211L|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R211L	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	211	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGTCCCAGCTCGTTCACAGCT	0.383													49	105					4.04843e-08	4.49123e-08	1	0	A	34067440	C	A	34067440	3	1	362	1	0	0	0	0	1	0	0	0	15543	884	31	3	4235	3	SYNJ1	21	34067440	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08		34067440	14062455	107	68856											
GGTLC2	91227	broad.mit.edu	37	chr22	22989341	22989341	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccccctcacctgccaatttCatccagccaggtatggggtg	7	9	9	16	0	2	0	2	0	0	0	3	0	3	0	7	3	2	1	7	3	2	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr22:22989341C>T	ENST00000448514.1	+	2	294	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GGTLC2_ENST00000480559.1_Silent_p.F98F			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	98					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		CTGCCAATTTCATCCAGCCAG	0.612													64	75					0	0	0	0	T	22989341	C	T	22989341	2	4	362	1	0	0	0	0	0	0	0	1	6417	825	29	2		2	GGTLC2	22	22989341	Silent	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08		22989341	28315225	108	68857											
FAM9A	171482	broad.mit.edu	37	chrX	8763181	8763183	+	In_Frame_Del	DEL	CTC	CTC	-																															ttcttctgtttcttctccttCtcctcctcctcctccttctt																										TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:8763181_8763183delCTC	ENST00000543214.1	-	7	902_904	c.767_769delGAG	c.(766-771)gaa>g	p.GE258del	FAM9A_ENST00000381003.3_In_Frame_Del_p.GE258del	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	258	Glu-rich.|Poly-Gly.					nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				tcttctccttctcctcctcctcc	0.448													2	4	---	---	---	---					-	8763183	CTC	-	8763181	7	5	362	1	0	1	0	1	0	0	0	0	5704	922	32	0	241	0	FAM9A	23	8763181	In_Frame_Del	DEL	CTC	TCGA-CX-A4AQ-01A-11D-A25D-08		8763181	146507379	109	68858											
PPEF1	5475	broad.mit.edu	37	chrX	18748380	18748380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagacaacactatgccctcaCcatcttccagtccatcgaat	12	9	4	16	1	2	1	1	0	1	1	5	2	4	1	4	0	2	0	4	0	3	2			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:18748380C>T	ENST00000361511.4	+	5	622	c.128C>T	c.(127-129)aCc>aTc	p.T43I	PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000349874.5_Missense_Mutation_p.T43I|PPEF1_ENST00000543630.1_Missense_Mutation_p.T43I|PPEF1_ENST00000359763.6_Missense_Mutation_p.T43I|PPEF1_ENST00000471570.1_3'UTR	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	43	IQ.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TATGCCCTCACCATCTTCCAG	0.453													51	22					0	0	0	0	T	18748380	C	T	18748380	3	4	362	1	0	0	0	0	1	0	0	0	12378	507	18	4	134	4	PPEF1	23	18748380	Missense_Mutation	SNP	C	TCGA-CX-A4AQ-01A-11D-A25D-08	9985199	18748380	136522180	110	68859											
USP11	8237	broad.mit.edu	37	chrX	47100675	47100675	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtctctggcctctgcaGtgcctcagcaatgtgccaca	6	10	10	15	0	3	0	1	0	2	0	4	0	3	0	4	2	4	2	4	2	1	0			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:47100675G>T	ENST00000377107.2	+	8	1200		c.e8-1		USP11_ENST00000218348.3_Splice_Site			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11						protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GGCCTCTGCAGTGCCTCAGCA	0.527													13	9					2.31682e-05	2.41904e-05	1	0	T	47100675	G	T	47100675	5	4	362	1	0	0	0	0	0	0	1	0	17138	1043	36	4	1005	4	USP11	23	47100675	Splice_Site	SNP	G	TCGA-CX-A4AQ-01A-11D-A25D-08	28352295	47100675	108169885	111	68860											
LDOC1	23641	broad.mit.edu	37	chrX	140271160	140271160	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgatgctcagggcgcggTgccgcatcaggagcgcgtgc	5	7	16	13	6	3	0	2	0	1	0	4	2	3	1	1	3	4	2	1	3	0	0			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:140271160T>C	ENST00000370526.2	-	1	150	c.47A>G	c.(46-48)cAc>cGc	p.H16R	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	16					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					CAGGGCGCGGTGCCGCATCAG	0.672													12	6					0	0	0	0	C	140271160	T	C	140271160	3	2	362	1	0	0	0	0	1	0	0	0	8762	1696	59	5	397	5	LDOC1	23	140271160	Missense_Mutation	SNP	T	TCGA-CX-A4AQ-01A-11D-A25D-08	93170485	140271160	14999400	112	68861											
SPANXN2	494119	broad.mit.edu	37	chrX	142795488	142795488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctccagttgatttgaatTtattttcgtatgcttcctgt	6	21	6	8	1	1	2	0	2	1	0	4	2	2	2	2	0	1	3	2	0	3	9			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:142795488T>G	ENST00000370498.1	-	2	943	c.190A>C	c.(190-192)Aat>Cat	p.N64H		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	64										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGATTTGAATTTATTTTCGTA	0.433													64	46					0	0	0	0	G	142795488	T	G	142795488	3	3	362	1	0	0	0	0	1	0	0	0	15081	1841	64	5	356	5	SPANXN2	23	142795488	Missense_Mutation	SNP	T	TCGA-CX-A4AQ-01A-11D-A25D-08	2524328	142795488	12475072	113	68862											
TTLL10	254173	broad.mit.edu	37	chr1	1117129	1117129	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgggctgcaggctggaaaAggacgcagcagcgcccgccc	8	3	15	15	3	0	0	0	0	0	0	0	2	0	2	3	4	3	5	3	4	2	0			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:1117129A>T	ENST00000379290.1	+	9	937	c.764A>T	c.(763-765)aAg>aTg	p.K255M	TTLL10_ENST00000379289.1_Missense_Mutation_p.K255M|TTLL10_ENST00000379288.3_Missense_Mutation_p.K182M			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	255	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGCTGGAAAAGGACGCAGCA	0.672													3	12					0	0	0	0	T	1117129	A	T	1117129	3	4	363	1	0	0	0	0	1	0	0	0	16819	72	3	5	786	5	TTLL10	1	1117129	Missense_Mutation	SNP	A	TCGA-D6-6515-01A-21D-1870-08		1117129	248133492	1	68863											
JAK1	3716	broad.mit.edu	37	chr1	65303626	65303626	+	Silent	SNP	G	G	A																															ttcagttaccaaaacacaggGctgtcccggtcatccttgac																										TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:65303626G>A	ENST00000342505.4	-	22	3377	c.3129C>T	c.(3127-3129)agC>agT	p.S1043S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1043	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AAAACACAGGGCTGTCCCGGT	0.398			Mis		ALL								3	52					0	0	0	0	A	65303626	G	A	65303626	2	1	363	1	0	0	0	0	0	0	0	1	7990	1194	42	4		4	JAK1	1	65303626	Silent	SNP	G	TCGA-D6-6515-01A-21D-1870-08	64186497	65303626	183946995	2	68864	837	2									
JAK1	3716	broad.mit.edu	37	chr1	65303627	65303627	+	Missense_Mutation	SNP	C	C	A																															tcagttaccaaaacacagggCtgtcccggtcatccttgacg																										TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:65303627C>A	ENST00000342505.4	-	22	3376	c.3128G>T	c.(3127-3129)aGc>aTc	p.S1043I		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1043	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AAACACAGGGCTGTCCCGGTC	0.398			Mis		ALL								3	52					0.004672	0.0051976	1	0	A	65303627	C	A	65303627	3	1	363	1	0	0	0	0	1	0	0	0	7990	797	28	4	352	4	JAK1	1	65303627	Missense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08	1	65303627	183946994	3	68865	837	2									
JAK1	3716	broad.mit.edu	37	chr1	65306941	65306941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttacctctcccaagtcaCggatcctctttaggaagcgc	10	10	7	14	2	3	0	1	0	2	0	5	2	4	2	3	2	3	0	3	2	5	3			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:65306941C>T	ENST00000342505.4	-	19	2884	c.2636G>A	c.(2635-2637)cGt>cAt	p.R879H		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	879	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCCCAAGTCACGGATCCTCTT	0.493			Mis		ALL								9	70					0	0	0	0	T	65306941	C	T	65306941	3	4	363	1	0	0	0	0	1	0	0	0	7990	536	19	1	856	1	JAK1	1	65306941	Missense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08	3314	65306941	183943680	4	68866											
MSH4	4438	broad.mit.edu	37	chr1	76365359	76365359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caattgtcttggatgccaagGaaatcacaactcaaattacg	15	10	7	9	1	3	0	2	0	1	0	3	2	3	2	1	2	3	0	1	2	6	3			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:76365359G>A	ENST00000263187.3	+	19	2691	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	863					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.E863K(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GGATGCCAAGGAAATCACAAC	0.294								Mismatch excision repair (MMR)					8	66					0	0	0	0	A	76365359	G	A	76365359	3	1	363	1	0	0	0	0	1	0	0	0	9942	1175	41	2	2661	2	MSH4	1	76365359	Missense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08	11058418	76365359	172885262	5	68867											
MTMR11	10903	broad.mit.edu	37	chr1	149905361	149905361	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgcaaggctgggcagcTcatccatagtgtctaccagg	9	9	11	12	0	3	0	1	0	2	0	4	0	4	0	2	3	3	4	2	3	3	2			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:149905361T>C	ENST00000439741.2	-	10	1173	c.923A>G	c.(922-924)gAg>gGg	p.E308G	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.E236G|MTMR11_ENST00000406732.3_Missense_Mutation_p.E280G	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	308	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCTGGGCAGCTCATCCATAGT	0.567													3	79					0	0	0	0	C	149905361	T	C	149905361	3	2	363	1	0	0	0	0	1	0	0	0	10010	1551	54	5	1277	5	MTMR11	1	149905361	Missense_Mutation	SNP	T	TCGA-D6-6515-01A-21D-1870-08	73540002	149905361	99345260	6	68868											
ANP32E	81611	broad.mit.edu	37	chr1	150202922	150202922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccagagcttctactgtaCtgagatcttttattttgttt	8	20	6	7	0	2	2	0	1	2	2	2	3	2	2	1	0	4	3	1	0	4	9			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:150202922C>G	ENST00000314136.8	-	3	680	c.311G>C	c.(310-312)aGt>aCt	p.S104T	ANP32E_ENST00000436748.2_Intron|ANP32E_ENST00000369115.2_Intron|ANP32E_ENST00000369119.3_Missense_Mutation_p.S56T|ANP32E_ENST00000533654.1_Missense_Mutation_p.S104T|ANP32E_ENST00000369114.5_Missense_Mutation_p.S104T|ANP32E_ENST00000369116.4_Intron	NM_001136478.2|NM_030920.3	NP_001129950.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	104						cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTACTGTACTGAGATCTTT	0.343													7	57					0	0	0	0	G	150202922	C	G	150202922	3	3	363	1	0	0	0	0	1	0	0	0	708	565	20	4	515	4	ANP32E	1	150202922	Missense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08	297561	150202922	99047699	7	68869											
CKS1B	1163	broad.mit.edu	37	chr1	154947327	154947327	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggtcgtgagctttggccGctgagggcacaaggaattag	9	8	17	7	2	0	2	0	2	0	0	1	4	0	3	1	4	1	3	1	4	3	2			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:154947327G>A	ENST00000368439.1	+	0	199				CKS1B_ENST00000308987.5_Intron|CKS1B_ENST00000368436.1_Intron			P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B						cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGCTTTGGCCGCTGAGGGCAC	0.512													3	29					0	0	0	0	A	154947327	G	A	154947327	1	1	363	1	0	0	0	0	0	0	0	0	3482	1102	38	1		1	CKS1B	1	154947327	Translation_Start_Site	SNP	G	TCGA-D6-6515-01A-21D-1870-08	4744405	154947327	94303294	8	68870											
LYST	1130	broad.mit.edu	37	chr1	235972999	235972999	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttttgtcttggtgcaaaAgggtcaggctgcttttctag	6	17	11	7	0	4	0	1	0	3	0	4	0	4	0	0	3	2	3	0	3	3	7			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:235972999A>G	ENST00000389794.3	-	5	1293	c.1119T>C	c.(1117-1119)ccT>ccC	p.P373P	LYST_ENST00000389793.2_Silent_p.P373P|LYST_ENST00000536965.1_Silent_p.P373P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	373					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGGTGCAAAAGGGTCAGGCT	0.383													3	160					0	0	0	0	G	235972999	A	G	235972999	2	3	363	1	0	0	0	0	0	0	0	1	9193	59	3	5		5	LYST	1	235972999	Silent	SNP	A	TCGA-D6-6515-01A-21D-1870-08	81025672	235972999	13277622	9	68871											
DDX1	1653	broad.mit.edu	37	chr2	15770222	15770222	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagttacctacggtcagaaaAgggctgctggtggtaagctt	11	10	13	7	1	1	1	1	0	0	1	1	1	1	1	1	4	4	5	1	4	6	4			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:15770222A>G	ENST00000381341.2	+	26	2469	c.2080A>G	c.(2080-2082)Agg>Ggg	p.R694G	DDX1_ENST00000233084.3_Missense_Mutation_p.R694G			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	694	Necessary for interaction with HNRNPK.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CGGTCAGAAAAGGGCTGCTGG	0.373													3	118					0	0	0	0	G	15770222	A	G	15770222	3	3	363	1	0	0	0	0	1	0	0	0	4373	63	3	5	2178	5	DDX1	2	15770222	Missense_Mutation	SNP	A	TCGA-D6-6515-01A-21D-1870-08		15770222	227429151	10	68872											
APOB	338	broad.mit.edu	37	chr2	21233487	21233487	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacaactataatggtttgtcGattcctctcaaaatattctt	12	17	4	8	1	2	0	1	0	2	0	5	1	3	0	1	1	2	1	1	1	7	8	rs121918386		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:21233487G>A	ENST00000233242.1	-	26	6380	c.6253C>T	c.(6253-6255)Cga>Tga	p.R2085*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2085	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGGTTTGTCGATTCCTCTCA	0.343													6	57					0	0	0	0	A	21233487	G	A	21233487	4	1	363	1	0	0	0	0	0	1	0	0	787	1066	37	1	7454	1	APOB	2	21233487	Nonsense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08	5463265	21233487	221965886	11	68873											
USP34	9736	broad.mit.edu	37	chr2	61456687	61456687	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaagtacttcttacccatCttccattcctggctgcaaat	12	13	4	12	0	2	0	0	0	2	0	4	0	4	0	3	1	3	3	3	1	5	5			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:61456687C>G	ENST00000398571.2	-	59	7271	c.7195G>C	c.(7195-7197)Gat>Cat	p.D2399H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2399					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTTACCCATCTTCCATTCCT	0.348													19	238					0	0	0	0	G	61456687	C	G	61456687	3	3	363	1	0	0	0	0	1	0	0	0	17161	913	32	2	3533	2	USP34	2	61456687	Missense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08	40223200	61456687	181742686	12	68874											
TCF7L1	83439	broad.mit.edu	37	chr2	85536379	85536379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggctctccactctgccGccttcctgtcggctaaggct	4	11	10	16	2	2	0	0	0	2	0	5	0	3	0	4	3	2	4	4	3	1	2			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:85536379G>A	ENST00000282111.3	+	12	1836	c.1561G>A	c.(1561-1563)Gcc>Acc	p.A521T		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	521					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCACTCTGCCGCCTTCCTGTC	0.687													6	26					0	0	0	0	A	85536379	G	A	85536379	3	1	363	1	0	0	0	0	1	0	0	0	15791	1087	38	1	1607	1	TCF7L1	2	85536379	Missense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08	24079692	85536379	157662994	13	68875											
STAT1	6772	broad.mit.edu	37	chr2	191843715	191843715	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgctccttgctgatgaaGcccatgatgcacctggatat	8	12	9	12	1	1	3	0	3	1	0	3	4	2	4	3	1	3	3	3	1	2	2			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:191843715G>A	ENST00000361099.3	-	21	2127	c.1740C>T	c.(1738-1740)ggC>ggT	p.G580G	STAT1_ENST00000392322.3_Silent_p.G580G|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.G580G|STAT1_ENST00000392323.2_Silent_p.G582G	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	580	SH2.				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGCTGATGAAGCCCATGATGC	0.522													3	21					0	0	0	0	A	191843715	G	A	191843715	2	1	363	1	0	0	0	0	0	0	0	1	15354	958	34	4		4	STAT1	2	191843715	Silent	SNP	G	TCGA-D6-6515-01A-21D-1870-08	106307336	191843715	51355658	14	68876											
PGAP1	80055	broad.mit.edu	37	chr2	197763049	197763049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtattaacttaccacacaatGgagaggtggtctgttgagac	12	11	11	7	0	1	2	0	1	1	2	1	4	1	2	1	3	2	2	1	3	4	4			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:197763049G>A	ENST00000354764.3	-	6	966	c.852C>T	c.(850-852)tcC>tcT	p.S284S	PGAP1_ENST00000409188.1_Silent_p.S242S|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Silent_p.S284S	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	284					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACCACACAATGGAGAGGTGGT	0.343													11	67					0	0	0	0	A	197763049	G	A	197763049	2	1	363	1	0	0	0	0	0	0	0	1	11849	1335	47	4		4	PGAP1	2	197763049	Silent	SNP	G	TCGA-D6-6515-01A-21D-1870-08	5919334	197763049	45436324	15	68877											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	57					0	0	0	0	A	178936091	G	A	178936091	3	1	363	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08		178936091	19086339	16	68878											
METTL14	57721	broad.mit.edu	37	chr4	119621745	119621745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagattgcagcacctcgatCatttatttttctctggtgtg	7	17	9	8	1	2	1	1	1	1	1	4	3	2	1	1	1	2	2	1	1	1	5			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr4:119621745C>T	ENST00000388822.4	+	8	853	c.686C>T	c.(685-687)tCa>tTa	p.S229L	METTL14_ENST00000506780.1_Missense_Mutation_p.S191L			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	229						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GCACCTCGATCATTTATTTTT	0.338													12	81					0	0	0	0	T	119621745	C	T	119621745	3	4	363	1	0	0	0	0	1	0	0	0	9567	838	29	2	716	2	METTL14	4	119621745	Missense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08		119621745	71532531	17	68879											
FAT4	79633	broad.mit.edu	37	chr4	126372350	126372350	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaggtcactgtaaatgtCaccgtgcttgatgcaaatga	12	11	11	7	1	2	3	2	3	0	0	2	4	2	3	1	1	2	3	1	1	3	2			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr4:126372350C>T	ENST00000394329.3	+	9	10192	c.10179C>T	c.(10177-10179)gtC>gtT	p.V3393V	FAT4_ENST00000335110.5_Silent_p.V1691V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3393	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGTAAATGTCACCGTGCTTG	0.428													19	161					0	0	0	0	T	126372350	C	T	126372350	2	4	363	1	0	0	0	0	0	0	0	1	5737	813	29	2		2	FAT4	4	126372350	Silent	SNP	C	TCGA-D6-6515-01A-21D-1870-08	6750605	126372350	64781926	18	68880											
MAP9	79884	broad.mit.edu	37	chr4	156277012	156277012	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccttttagaactagatttCttcaaaaactcagaggtcat	13	14	5	9	0	4	3	3	0	1	3	5	3	5	3	1	1	2	0	1	1	5	5			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr4:156277012C>T	ENST00000311277.4	-	9	1409	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	AC097467.2_ENST00000593387.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA|MAP9_ENST00000515654.1_Silent_p.K358K|AC097467.2_ENST00000417474.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	382					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AACTAGATTTCTTCAAAAACT	0.348													4	38					0	0	0	0	T	156277012	C	T	156277012	2	4	363	1	0	0	0	0	0	0	0	1	9339	912	32	2		2	MAP9	4	156277012	Silent	SNP	C	TCGA-D6-6515-01A-21D-1870-08	29904662	156277012	34877264	19	68881											
ASB5	140458	broad.mit.edu	37	chr4	177146412	177146412	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaactatatgtaatatattaCctgtgataataatgttctca	16	16	4	5	0	1	1	1	1	1	0	2	1	1	1	1	0	2	2	1	0	9	9			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr4:177146412C>T	ENST00000296525.3	-	2	390		c.e2+1		ASB5_ENST00000511879.1_Splice_Site|ASB5_ENST00000512254.1_Splice_Site	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5						intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TAATATATTACCTGTGATAAT	0.363													5	47					0	0	0	0	T	177146412	C	T	177146412	5	4	363	1	0	0	0	0	0	0	1	0	1030	521	18	4	736	4	ASB5	4	177146412	Splice_Site	SNP	C	TCGA-D6-6515-01A-21D-1870-08	20869400	177146412	14007864	20	68882											
C6	729	broad.mit.edu	37	chr5	41199881	41199881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacattaccactgtcacagCgaaatttattcttgcagtca	13	13	5	10	1	3	0	2	0	1	0	3	1	3	0	1	0	4	1	1	0	4	6			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr5:41199881C>T	ENST00000263413.3	-	4	698	c.434G>A	c.(433-435)cGc>cAc	p.R145H	C6_ENST00000337836.5_Missense_Mutation_p.R145H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	145	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.R145P(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGTCACAGCGAAATTTATT	0.413													15	105					0	0	0	0	T	41199881	C	T	41199881	3	4	363	1	0	0	0	0	1	0	0	0	2336	768	27	1	2430	1	C6	5	41199881	Missense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08		41199881	139715379	21	68883											
CHD1	1105	broad.mit.edu	37	chr5	98218909	98218909	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaaattaatccctagaccTccagctcttgtggacagcaa	12	10	7	12	0	1	1	0	0	1	1	3	2	3	2	3	1	2	3	3	1	5	4			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr5:98218909T>C	ENST00000284049.3	-	18	2750	c.2601A>G	c.(2599-2601)ggA>ggG	p.G867G		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	867	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCCCTAGACCTCCAGCTCTTG	0.373													3	43					0	0	0	0	C	98218909	T	C	98218909	2	2	363	1	0	0	0	0	0	0	0	1	3352	1538	54	5		5	CHD1	5	98218909	Silent	SNP	T	TCGA-D6-6515-01A-21D-1870-08	57019028	98218909	82696351	22	68884											
DIAPH1	1729	broad.mit.edu	37	chr5	140908785	140908785	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggtcatcatattcatccTtcagttcagaaagcattttt	11	15	5	10	0	5	1	5	0	0	1	6	1	6	1	2	1	1	2	2	1	2	6			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr5:140908785T>C	ENST00000253811.6	-	21	2875	c.2735A>G	c.(2734-2736)aAg>aGg	p.K912R	DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000518047.1_Missense_Mutation_p.K899R|DIAPH1_ENST00000398557.4_Missense_Mutation_p.K911R|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K903R|DIAPH1_ENST00000520569.1_Missense_Mutation_p.K854R|DIAPH1_ENST00000389054.3_Missense_Mutation_p.K908R|DIAPH1_ENST00000389057.5_Missense_Mutation_p.K902R|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K887R			O60610	DIAP1_HUMAN	diaphanous-related formin 1	911	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATTCATCCTTCAGTTCAGA	0.498													9	73					0	0	0	0	C	140908785	T	C	140908785	3	2	363	1	0	0	0	0	1	0	0	0	4555	1609	56	5	1118	5	DIAPH1	5	140908785	Missense_Mutation	SNP	T	TCGA-D6-6515-01A-21D-1870-08	42689876	140908785	40006475	23	68885											
N4BP3	23138	broad.mit.edu	37	chr5	177548577	177548577	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcttcagtctgaagacaCaacttcggggcagccgggca	11	7	12	11	2	3	3	1	1	2	2	4	3	3	3	1	3	2	2	1	3	2	2			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr5:177548577C>T	ENST00000274605.5	+	5	1569	c.1210C>T	c.(1210-1212)Caa>Taa	p.Q404*		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	404						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAAGACACAACTTCGGGG	0.647													13	85					0	0	0	0	T	177548577	C	T	177548577	4	4	363	1	0	0	0	0	0	1	0	0	10183	479	17	4	1224	4	N4BP3	5	177548577	Nonsense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08	36639792	177548577	3366683	24	68886											
MEP1A	4224	broad.mit.edu	37	chr6	46787388	46787388	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggattttaccacgagcagtCaaggacggaccgggatgatt	11	8	14	8	3	1	1	1	1	0	0	1	6	1	5	2	4	2	1	2	4	2	3			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr6:46787388C>G	ENST00000230588.4	+	7	512	c.503C>G	c.(502-504)tCa>tGa	p.S168*		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	168	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CACGAGCAGTCAAGGACGGAC	0.478													5	227					0	0	0	0	G	46787388	C	G	46787388	4	3	363	1	0	0	0	0	0	1	0	0	9544	838	29	2	529	2	MEP1A	6	46787388	Nonsense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08		46787388	124327679	25	68887											
BAZ1B	9031	broad.mit.edu	37	chr7	72892011	72892011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggggtatccaccaatcTgaatgctggaaggtttttgc	9	13	11	8	0	2	1	1	1	1	0	3	2	3	2	2	4	2	3	2	4	4	4			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr7:72892011T>C	ENST00000339594.4	-	7	2118	c.1780A>G	c.(1780-1782)Aga>Gga	p.R594G	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R594G	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	594					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCACCAATCTGAATGCTGGA	0.458													4	187					0	0	0	0	C	72892011	T	C	72892011	3	2	363	1	0	0	0	0	1	0	0	0	1334	1588	55	5	2723	5	BAZ1B	7	72892011	Missense_Mutation	SNP	T	TCGA-D6-6515-01A-21D-1870-08		72892011	86246652	26	68888											
SH2D4A	63898	broad.mit.edu	37	chr8	19190591	19190591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattattgctgagagggccCggctgaaagcagaacaggag	14	6	14	7	1	0	3	0	2	0	2	0	5	0	4	1	3	3	3	1	3	4	2			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr8:19190591C>T	ENST00000265807.3	+	3	718	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	SH2D4A_ENST00000519207.1_Missense_Mutation_p.R103W|SH2D4A_ENST00000518040.1_Missense_Mutation_p.R58W	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	103						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TGAGAGGGCCCGGCTGAAAGC	0.463													8	68					0	0	0	0	T	19190591	C	T	19190591	3	4	363	1	0	0	0	0	1	0	0	0	14322	643	23	1	363	1	SH2D4A	8	19190591	Missense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08		19190591	127173431	27	68889											
CSMD3	114788	broad.mit.edu	37	chr8	113241099	113241099	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttgatttgaagaatttGaaccttctgacatattcagt	12	15	9	5	0	2	5	1	4	1	1	2	6	2	5	1	1	1	1	1	1	4	6			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr8:113241099G>T	ENST00000297405.5	-	70	11094	c.10850C>A	c.(10849-10851)tCa>tAa	p.S3617*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S3547*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S3448*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S3577*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3617						integral to membrane|plasma membrane		p.S3617*(1)|p.S3577*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAAGAATTTGAACCTTCTGA	0.279										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	46					0.00909568	0.00999402	1	0	T	113241099	G	T	113241099	4	4	363	1	0	0	0	0	0	1	0	0	3978	1294	45	2	281	2	CSMD3	8	113241099	Nonsense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08	94050508	113241099	33122923	28	68890											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			3	14					0	0	0	0	A	21971120	G	A	21971120	4	1	363	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08		21971120	119242311	29	68891											
CD163	9332	broad.mit.edu	37	chr12	7636017	7636017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactcactatggccccagcGtctggcaggacaatcccaca	11	6	8	16	1	2	0	1	0	1	0	3	1	3	1	3	3	1	1	3	3	2	1			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr12:7636017G>A	ENST00000359156.4	-	12	3236	c.3034C>T	c.(3034-3036)Cgc>Tgc	p.R1012C	CD163_ENST00000432237.2_Missense_Mutation_p.R1012C|CD163_ENST00000396620.3_Missense_Mutation_p.R1045C|CD163_ENST00000541972.1_Missense_Mutation_p.R1000C|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1012	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGGCCCCAGCGTCTGGCAGGA	0.512													7	50					0	0	0	0	A	7636017	G	A	7636017	3	1	363	1	0	0	0	0	1	0	0	0	2996	1145	40	1	456	1	CD163	12	7636017	Missense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08		7636017	126215878	30	68892											
KRT78	196374	broad.mit.edu	37	chr12	53233611	53233611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatccagggaaagcttcGtgctcgtcagctcctggtac	8	9	10	14	2	1	0	1	0	0	0	5	1	3	1	3	2	4	4	3	2	2	2			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr12:53233611G>A	ENST00000359499.4	-	7	886	c.875C>T	c.(874-876)aCg>aTg	p.T292M	KRT78_ENST00000304620.4_Missense_Mutation_p.T402M			Q8N1N4	K2C78_HUMAN	keratin 78	402	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGAAAGCTTCGTGCTCGTCAG	0.612													9	59					0	0	0	0	A	53233611	G	A	53233611	3	1	363	1	0	0	0	0	1	0	0	0	8543	1145	40	1	369	1	KRT78	12	53233611	Missense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08	45597594	53233611	80618284	31	68893											
CTDSP2	10106	broad.mit.edu	37	chr12	58221344	58221344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtcacgtacctggtagaaCtggtactggagacactggag	11	8	14	8	1	1	2	1	0	0	2	1	5	1	3	1	4	3	3	1	4	4	3			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr12:58221344C>A	ENST00000398073.2	-	3	546	c.243G>T	c.(241-243)caG>caT	p.Q81H	CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	81					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					CCTGGTAGAACTGGTACTGGA	0.562													3	26					0.115264	0.123596	1	0	A	58221344	C	A	58221344	3	1	363	1	0	0	0	0	1	0	0	0	4036	564	20	4	596	4	CTDSP2	12	58221344	Missense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08	4987733	58221344	75630551	32	68894											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37679304	37679304	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgatgcccagataaacGtctccaaaggagccagaccc	12	6	11	12	1	1	3	0	1	1	2	2	4	1	4	4	2	3	0	4	2	3	1			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr13:37679304G>A	ENST00000379800.3	-	1	499	c.90C>T	c.(88-90)gaC>gaT	p.D30D		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	30	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCAGATAAACGTCTCCAAAGG	0.537													7	122					0	0	0	0	A	37679304	G	A	37679304	2	1	363	1	0	0	0	0	0	0	0	1	3983	1136	40	1		1	CSNK1A1L	13	37679304	Silent	SNP	G	TCGA-D6-6515-01A-21D-1870-08		37679304	77490574	33	68895											
FARP1	10160	broad.mit.edu	37	chr13	99042297	99042297	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgttgaacatcatgcCttctttagactttttgaaga	10	17	7	7	0	3	4	1	2	2	2	3	4	3	4	1	0	2	1	1	0	3	6			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr13:99042297C>A	ENST00000376586.2	+	10	1278	c.942C>A	c.(940-942)gcC>gcA	p.A314A	FARP1_ENST00000595437.1_Silent_p.A314A|FARP1_ENST00000319562.6_Silent_p.A314A			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	314	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AACATCATGCCTTCTTTAGAC	0.488													7	155					2.0095e-06	2.29289e-06	1	0	A	99042297	C	A	99042297	2	1	363	1	0	0	0	0	0	0	0	1	5721	668	24	4		4	FARP1	13	99042297	Silent	SNP	C	TCGA-D6-6515-01A-21D-1870-08	61362993	99042297	16127581	34	68896											
RASA3	22821	broad.mit.edu	37	chr13	114751137	114751137	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttatactgggcgtgcTcctgctccaaagccccaacc	7	9	7	18	1	1	0	0	0	1	0	3	0	3	0	6	1	5	2	6	1	4	2			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr13:114751137T>C	ENST00000334062.7	-	23	2499	c.2378A>G	c.(2377-2379)gAg>gGg	p.E793G	RASA3_ENST00000389544.4_Missense_Mutation_p.E761G	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	793					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTGGGCGTGCTCCTGCTCCAA	0.582													15	183					0	0	0	0	C	114751137	T	C	114751137	3	2	363	1	0	0	0	0	1	0	0	0	13144	1551	54	5	134	5	RASA3	13	114751137	Missense_Mutation	SNP	T	TCGA-D6-6515-01A-21D-1870-08	15708840	114751137	418741	35	68897											
MAP3K9	4293	broad.mit.edu	37	chr14	71205084	71205084	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggacgactgagctcctGccccaggttttgctgctttc	4	14	11	12	1	0	1	0	1	0	0	2	3	1	2	3	2	4	4	3	2	0	4			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr14:71205084G>A	ENST00000554752.2	-	8	1721	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	MAP3K9_ENST00000381250.4_Silent_p.G574G|MAP3K9_ENST00000555993.2_Silent_p.G574G|MAP3K9_ENST00000553414.1_Silent_p.G316G|MAP3K9_ENST00000554146.1_Silent_p.G311G			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	574					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTGAGCTCCTGCCccaggttt	0.567													11	77					0	0	0	0	A	71205084	G	A	71205084	2	1	363	1	0	0	0	0	0	0	0	1	9326	1306	46	4		4	MAP3K9	14	71205084	Silent	SNP	G	TCGA-D6-6515-01A-21D-1870-08		71205084	36144456	36	68898											
ATP8B4	79895	broad.mit.edu	37	chr15	50215663	50215663	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatctgctcctttggaataAagctttatctgtccttctgg	7	17	8	9	0	3	0	0	0	3	0	5	1	5	1	2	2	2	3	2	2	5	6			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr15:50215663A>C	ENST00000284509.6	-	17	1812	c.1671T>G	c.(1669-1671)ctT>ctG	p.L557L	ATP8B4_ENST00000559829.1_Silent_p.L557L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	557					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTTTGGAATAAAGCTTTATCT	0.383													4	40					0	0	0	0	C	50215663	A	C	50215663	2	2	363	1	0	0	0	0	0	0	0	1	1201	1	1	5		5	ATP8B4	15	50215663	Silent	SNP	A	TCGA-D6-6515-01A-21D-1870-08		50215663	52315729	37	68899											
RFX7	64864	broad.mit.edu	37	chr15	56393703	56393703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcacacacaagacggcaaGcagaagagataacttcttca	17	6	7	11	1	3	3	2	0	1	3	3	4	3	3	0	1	2	2	0	1	4	3			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr15:56393703G>T	ENST00000423270.1	-	7	664	c.665C>A	c.(664-666)gCt>gAt	p.A222D	RFX7_ENST00000317318.6_Missense_Mutation_p.A222D|RFX7_ENST00000559447.2_Missense_Mutation_p.A125D|RFX7_ENST00000422057.1_Missense_Mutation_p.A125D	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	125					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AAGACGGCAAGCAGAAGAGAT	0.423													8	47					4.1943e-16	4.84796e-16	1	0	T	56393703	G	T	56393703	3	4	363	1	0	0	0	0	1	0	0	0	13350	971	34	4	3729	4	RFX7	15	56393703	Missense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08	6178040	56393703	46137689	38	68900											
RAB11FIP3	9727	broad.mit.edu	37	chr16	546835	546835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcacagtccgacaaagcGgctctccagcaagaaggtgg	11	6	12	12	2	2	1	0	0	2	1	4	2	3	1	2	3	3	3	2	3	3	0			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:546835G>A	ENST00000262305.4	+	6	1665	c.1277G>A	c.(1276-1278)cGg>cAg	p.R426Q	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.R471Q|RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.R130Q	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	426					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CCGACAAAGCGGCTCTCCAGC	0.423													13	92					0	0	0	0	A	546835	G	A	546835	3	1	363	1	0	0	0	0	1	0	0	0	12977	1116	39	1	1318	1	RAB11FIP3	16	546835	Missense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08		546835	89807918	39	68901											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1815178	1815178	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcatctccagcatcccCggtgagcagctggagtgggc	6	8	14	13	1	1	1	0	1	1	0	3	2	2	2	3	3	4	4	3	3	0	0			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:1815178C>T	ENST00000250894.4	+	20	2599	c.2443_splice	c.e20+1	p.P814_splice	MAPK8IP3_ENST00000356010.5_Splice_Site_p.P808_splice	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	814					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|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						CCAGCATCCCCGGTGAGCAGC	0.617													3	18					0	0	0	0	T	1815178	C	T	1815178	5	4	363	1	0	0	0	0	0	0	1	0	9355	666	23	1	2536	1	MAPK8IP3	16	1815178	Splice_Site	SNP	C	TCGA-D6-6515-01A-21D-1870-08	1268343	1815178	88539575	40	68902											
MYH11	4629	broad.mit.edu	37	chr16	15841500	15841500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatcttcaaatctcgctcctCctctaggtgggccaggacgc	7	10	10	14	2	4	0	1	0	3	0	7	2	6	1	3	3	0	1	3	3	2	2			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:15841500C>T	ENST00000338282.6	-	19	2444	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	MYH11_ENST00000396324.3_Missense_Mutation_p.E787K|MYH11_ENST00000300036.5_Missense_Mutation_p.E780K|MYH11_ENST00000576790.1_Missense_Mutation_p.E780K|MYH11_ENST00000452625.2_Missense_Mutation_p.E787K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	780	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTCGCTCCTCCTCTAGGTGG	0.498			T	CBFB	AML								13	86					0	0	0	0	T	15841500	C	T	15841500	3	4	363	1	0	0	0	0	1	0	0	0	10101	864	30	2	3707	2	MYH11	16	15841500	Missense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08	14026322	15841500	74513253	41	68903											
HS3ST4	9951	broad.mit.edu	37	chr16	26147117	26147117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacactgtcaaagaaacccGagatccccacctttgaggtg	13	7	9	12	1	1	4	1	1	0	3	2	5	2	4	4	1	1	0	4	1	2	1			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:26147117G>A	ENST00000331351.5	+	2	1311	c.919G>A	c.(919-921)Gag>Aag	p.E307K	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	307					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AAAGAAACCCGAGATCCCCAC	0.537													20	165					0	0	0	0	A	26147117	G	A	26147117	3	1	363	1	0	0	0	0	1	0	0	0	7417	1059	37	1	925	1	HS3ST4	16	26147117	Missense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08	10305617	26147117	64207636	42	68904											
FAM192A	80011	broad.mit.edu	37	chr16	57206187	57206189	+	In_Frame_Del	DEL	TTC	TTC	-																															tattccttcagttctttcagTtcttcttctcttcgttgctt																										TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:57206187_57206189delTTC	ENST00000309137.8	-	4	580_582	c.322_324delGAA	c.(322-324)del	p.E108del	FAM192A_ENST00000567439.1_In_Frame_Del_p.E108del|FAM192A_ENST00000564108.1_In_Frame_Del_p.E108del|FAM192A_ENST00000566077.1_In_Frame_Del_p.E31del|FAM192A_ENST00000569266.1_In_Frame_Del_p.E108del|FAM192A_ENST00000389447.5_In_Frame_Del_p.E108del	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	108						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						GTTCTTTCAGTTCTTCTTCTCTT	0.404													9	108	---	---	---	---					-	57206189	TTC	-	57206187	7	5	363	1	0	1	0	1	0	0	0	0	5566	1722	60	0	456	0	FAM192A	16	57206187	In_Frame_Del	DEL	TTC	TCGA-D6-6515-01A-21D-1870-08	31059070	57206187	33148566	43	68905											
KIAA0895L	653319	broad.mit.edu	37	chr16	67213451	67213451	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggacagcaggtcctcactCagctgcaccacaacctgcag	10	6	10	15	0	2	0	2	0	0	0	3	1	3	1	3	2	5	4	3	2	1	0			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:67213451C>G	ENST00000290881.7	-	5	1655	c.729G>C	c.(727-729)ctG>ctC	p.L243L	KIAA0895L_ENST00000561679.1_5'UTR|KIAA0895L_ENST00000563902.1_Silent_p.L243L|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Silent_p.L243L			Q68EN5	K895L_HUMAN	KIAA0895-like	243										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GGTCCTCACTCAGCTGCACCA	0.647													4	40					0	0	0	0	G	67213451	C	G	67213451	2	3	363	1	0	0	0	0	0	0	0	1	8249	813	29	2		2	KIAA0895L	16	67213451	Silent	SNP	C	TCGA-D6-6515-01A-21D-1870-08	10007264	67213451	23141302	44	68906											
PELP1	27043	broad.mit.edu	37	chr17	4575883	4575883	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtggcacctgagggtggTgggggtggcagggggggaag	5	6	26	4	0	0	1	0	1	0	0	0	2	0	2	1	10	0	2	1	10	1	0			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:4575883T>G	ENST00000301396.4	-	16	3060	c.2835A>C	c.(2833-2835)ccA>ccC	p.P945P	PELP1_ENST00000572293.1_Silent_p.P851P|PELP1_ENST00000436683.2_Silent_p.P654P|PELP1_ENST00000269230.7_Silent_p.P711P|PELP1_ENST00000574876.1_Silent_p.P801P			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	801	Glu-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTGAGGGTGGTGGGGGTGGCA	0.622													4	27					0	0	0	0	G	4575883	T	G	4575883	2	3	363	1	0	0	0	0	0	0	0	1	11796	1683	59	5		5	PELP1	17	4575883	Silent	SNP	T	TCGA-D6-6515-01A-21D-1870-08		4575883	76619327	45	68907											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	22					0	0	0	0	T	7577120	C	T	7577120	3	4	363	1	0	0	0	0	1	0	0	0	16476	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08	3001237	7577120	73618090	46	68908											
KRTAP4-1	85285	broad.mit.edu	37	chr17	39340710	39340710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcggcagcaagttgcacGgcagcaggtggtctgacagc	8	5	18	10	2	1	1	0	1	1	0	1	1	1	1	0	6	4	6	0	6	1	1			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:39340710G>A	ENST00000398472.1	-	1	884	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	133	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament		p.R129C(1)|p.R133C(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAAGTTGCACGGCAGCAGGTG	0.577													6	126					0	0	0	0	A	39340710	G	A	39340710	3	1	363	1	0	0	0	0	1	0	0	0	8601	1116	39	1	47	1	KRTAP4-1	17	39340710	Missense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08	31763590	39340710	41854500	47	68909											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917985	48917985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagggggaaccagcgctgtCgggcctgcaagcctcggcag	7	4	16	14	3	0	0	0	0	0	0	2	1	0	1	4	4	4	3	4	4	2	0			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:48917985C>T	ENST00000311378.4	+	2	1864	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R353W|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	446	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCAGCGCTGTCGGGCCTGCAA	0.622													8	55					0	0	0	0	T	48917985	C	T	48917985	3	4	363	1	0	0	0	0	1	0	0	0	17455	875	31	1	1342	1	WFIKKN2	17	48917985	Missense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08	9577275	48917985	32277225	48	68910											
GDPD1	284161	broad.mit.edu	37	chr17	57298028	57298028	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaggatacttggtgaccTcattcttgttgcttaaatac	10	15	9	7	0	2	1	1	1	1	0	2	3	2	3	1	3	3	2	1	3	5	8			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:57298028T>C	ENST00000284116.4	+	1	195	c.58T>C	c.(58-60)Tca>Cca	p.S20P	GDPD1_ENST00000581276.1_Missense_Mutation_p.S20P|GDPD1_ENST00000581140.1_Missense_Mutation_p.S20P	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	20					glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTTGGTGACCTCATTCTTGTT	0.542											OREG0024617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	136					0	0	0	0	C	57298028	T	C	57298028	3	2	363	1	0	0	0	0	1	0	0	0	6374	1551	54	5	60	5	GDPD1	17	57298028	Missense_Mutation	SNP	T	TCGA-D6-6515-01A-21D-1870-08	8380043	57298028	23897182	49	68911											
LRRC37A3	374819	broad.mit.edu	37	chr17	62857035	62857035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgcttgtgtaattcttccGggcttgtaacaccttcatga	8	15	9	9	1	2	1	1	1	1	0	3	1	3	1	2	1	2	4	2	1	2	7			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:62857035G>A	ENST00000584306.1	-	11	3759	c.3229C>T	c.(3229-3231)Cgg>Tgg	p.R1077W	LRRC37A3_ENST00000400877.3_Missense_Mutation_p.R115W|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.R54W|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.R195W|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.R1077W	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1077						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TAATTCTTCCGGGCTTGTAAC	0.483													24	269					0	0	0	0	A	62857035	G	A	62857035	3	1	363	1	0	0	0	0	1	0	0	0	9057	1115	39	1	1691	1	LRRC37A3	17	62857035	Missense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08	5559007	62857035	18338175	50	68912											
ARHGEF18	23370	broad.mit.edu	37	chr19	7531842	7531842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatccgatccccgtctgccCaccgtcctggagtcggaggt	6	8	12	15	4	1	0	0	0	1	0	5	4	4	2	6	3	1	0	6	3	1	0			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:7531842C>T	ENST00000593531.1	+	17	2252	c.2252C>T	c.(2251-2253)cCa>cTa	p.P751L	ARHGEF18_ENST00000319670.9_Silent_p.P635P|ARHGEF18_ENST00000359920.6_Silent_p.P793P																							CCCGTCTGCCCACCGTCCTGG	0.637													11	68					0	0	0	0	T	7531842	C	T	7531842	3	4	363	1	0	0	0	0	1	0	0	0	903	581	21	4	2433	4	ARHGEF18	19	7531842	Missense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08		7531842	51597141	51	68913											
CD97	976	broad.mit.edu	37	chr19	14508888	14508888	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagacgctttcccgattCttcgacaaagtccaggacct	9	10	8	14	3	1	1	0	0	1	1	4	4	3	2	3	1	1	2	3	1	1	3			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:14508888C>T	ENST00000242786.5	+	9	914	c.834C>T	c.(832-834)ttC>ttT	p.F278F	CD97_ENST00000358600.3_Silent_p.F185F|CD97_ENST00000357355.3_Silent_p.F229F	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	278					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTTCCCGATTCTTCGACAAAG	0.587													5	74					0	0	0	0	T	14508888	C	T	14508888	2	4	363	1	0	0	0	0	0	0	0	1	3078	912	32	2		2	CD97	19	14508888	Silent	SNP	C	TCGA-D6-6515-01A-21D-1870-08	6977046	14508888	44620095	52	68914											
WIZ	58525	broad.mit.edu	37	chr19	15559028	15559028	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcttcggccccaccctCgatgttctcccttggcgccg	4	9	10	18	4	1	0	0	0	1	0	4	1	1	0	5	2	2	3	5	2	0	3			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:15559028C>A	ENST00000389282.4	-	2	304	c.91G>T	c.(91-93)Gag>Tag	p.E31*	WIZ_ENST00000263381.6_Nonsense_Mutation_p.E31*			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	31						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GCCCCACCCTCGATGTTCTCC	0.647													3	69					0.115264	0.123596	1	0	A	15559028	C	A	15559028	4	1	363	1	0	0	0	0	0	1	0	0	17471	893	31	3	2321	3	WIZ	19	15559028	Nonsense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08	1050140	15559028	43569955	53	68915											
USHBP1	83878	broad.mit.edu	37	chr19	17373676	17373676	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccccattcccagggggCacagtctccttgtactgtag	6	9	13	13	0	1	0	0	0	1	0	3	0	2	0	4	4	1	3	4	4	2	4			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:17373676C>T	ENST00000252597.3	-	4	500	c.327G>A	c.(325-327)gtG>gtA	p.V109V	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Silent_p.V45V	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	109							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TCCCAGGGGGCACAGTCTCCT	0.667													14	102					0	0	0	0	T	17373676	C	T	17373676	2	4	363	1	0	0	0	0	0	0	0	1	17133	697	25	4		4	USHBP1	19	17373676	Silent	SNP	C	TCGA-D6-6515-01A-21D-1870-08	1814648	17373676	41755307	54	68916											
LYPD3	27076	broad.mit.edu	37	chr19	43965777	43965777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggggccgaggtagaagtgGtgacagatgtggttgaggcc	8	8	19	6	1	0	4	0	2	0	2	0	5	0	4	2	6	0	2	2	6	2	2			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:43965777G>A	ENST00000244333.3	-	5	855	c.767C>T	c.(766-768)aCc>aTc	p.T256I		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	256						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GGTAGAAGTGGTGACAGATGT	0.612													20	118					0	0	0	0	A	43965777	G	A	43965777	3	1	363	1	0	0	0	0	1	0	0	0	9176	1261	44	4	277	4	LYPD3	19	43965777	Missense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08	26592101	43965777	15163206	55	68917											
CACNG7	59284	broad.mit.edu	37	chr19	54418666	54418666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtcagcctcttcctcGtgttcacggccttcgtcatc	4	13	8	16	3	4	0	3	0	1	0	8	0	5	0	4	2	1	1	4	2	0	3			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:54418666G>A	ENST00000391767.1	+	4	543	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000222212.2_Missense_Mutation_p.V111M|CACNG7_ENST00000391766.1_Missense_Mutation_p.V111M			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	111					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTCTTCCTCGTGTTCACGGC	0.607													9	49					0	0	0	0	A	54418666	G	A	54418666	3	1	363	1	0	0	0	0	1	0	0	0	2587	1145	40	1	341	1	CACNG7	19	54418666	Missense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08	10452889	54418666	4710317	56	68918											
NLRP8	126205	broad.mit.edu	37	chr19	56466997	56466997	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatgttctctgtttcccaCaaagactcaaaaattttcat	12	17	3	9	0	3	1	2	0	1	1	5	1	4	1	1	0	0	2	1	0	4	6			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:56466997C>T	ENST00000291971.3	+	3	1644	c.1573C>T	c.(1573-1575)Caa>Taa	p.Q525*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.Q525*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	525	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTGTTTCCCACAAAGACTCAA	0.433													8	171					0	0	0	0	T	56466997	C	T	56466997	4	4	363	1	0	0	0	0	0	1	0	0	10553	479	17	4	1583	4	NLRP8	19	56466997	Nonsense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08	2048331	56466997	2661986	57	68919											
ZNFX1	57169	broad.mit.edu	37	chr20	47863942	47863942	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgccaccaatcacttcCttacagtcaggacacgtgcc	9	11	7	14	1	2	0	2	0	0	0	3	1	3	1	4	1	3	0	4	1	2	3			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr20:47863942C>T	ENST00000396105.1	-	14	5865	c.5619G>A	c.(5617-5619)aaG>aaA	p.K1873K	ZNFX1_ENST00000371752.1_Silent_p.K1873K|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1873							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAATCACTTCCTTACAGTCAG	0.527													10	66					0	0	0	0	T	47863942	C	T	47863942	2	4	363	1	0	0	0	0	0	0	0	1	18298	680	24	4		4	ZNFX1	20	47863942	Silent	SNP	C	TCGA-D6-6515-01A-21D-1870-08		47863942	15161578	58	68920											
OLIG2	10215	broad.mit.edu	37	chr21	34399432	34399432	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcgtcgtctacgtcgTcggcggctgcgtcgtccacc	3	9	12	17	8	1	0	0	0	1	0	7	0	2	0	3	2	2	2	3	2	1	1			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr21:34399432T>G	ENST00000333337.3	+	1	1190	c.262T>G	c.(262-264)Tcg>Gcg	p.S88A	AP000282.2_ENST00000420356.1_RNA|AP000282.2_ENST00000454622.1_RNA|OLIG2_ENST00000382357.3_Missense_Mutation_p.S88A			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	88	Poly-Ser.					cytoplasm|nucleus|plasma membrane	DNA binding			breast(1)|central_nervous_system(2)	3						GTCTACGTCGTCGGCGGCTGC	0.632			T	TRA@	T-ALL								6	18					0	0	0	0	G	34399432	T	G	34399432	3	3	363	1	0	0	0	0	1	0	0	0	10932	1667	58	5	264	5	OLIG2	21	34399432	Missense_Mutation	SNP	T	TCGA-D6-6515-01A-21D-1870-08		34399432	13730463	59	68921											
ZC3H7B	23264	broad.mit.edu	37	chr22	41752766	41752766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtccgacagtgacgccagcGgctgggccttccgcttcccc	4	7	12	18	5	0	1	0	1	0	0	3	2	3	1	6	2	1	2	6	2	0	2			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr22:41752766G>A	ENST00000352645.4	+	22	2892	c.2635G>A	c.(2635-2637)Ggc>Agc	p.G879S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G879S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	895					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGACGCCAGCGGCTGGGCCTT	0.647													4	115					0	0	0	0	A	41752766	G	A	41752766	3	1	363	1	0	0	0	0	1	0	0	0	17668	1116	39	1	2717	1	ZC3H7B	22	41752766	Missense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08		41752766	9551800	60	68922											
DUSP21	63904	broad.mit.edu	37	chrX	44703847	44703847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaacagctcatcaattacGaattcaagctgtttaataac	15	11	7	8	1	3	0	3	0	0	0	3	2	3	1	0	1	5	3	0	1	7	5			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:44703847G>A	ENST00000339042.4	+	1	599	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	157	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.E157K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CATCAATTACGAATTCAAGCT	0.498													9	54					0	0	0	0	A	44703847	G	A	44703847	3	1	363	1	0	0	0	0	1	0	0	0	4856	1059	37	1	471	1	DUSP21	23	44703847	Missense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08		44703847	110566713	61	68923											
ZNF41	7592	broad.mit.edu	37	chrX	47308645	47308646	+	Frame_Shift_Ins	INS	-	-	T																															cttggtagtcacatgaattaINSttttttcaatgtttttatgt																										TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:47308645_47308646insT	ENST00000377065.4	-	5	1162_1163	c.523_524insA	c.(523-525)aatfs	p.N175fs	ZNF41_ENST00000313116.7_Frame_Shift_Ins_p.N175fs|ZNF41_ENST00000397050.2_Frame_Shift_Ins_p.N185fs	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	217						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CACATGAATTATTTTTTCAATG	0.332													15	131	---	---	---	---					T	47308646	-	T	47308645	7	5	363	1	0	1	1	0	0	0	0	0	17984	449	16	0	1819	0	ZNF41	23	47308645	Frame_Shift_Ins	INS	-	TCGA-D6-6515-01A-21D-1870-08	2604798	47308645	107961915	62	68924											
NUDT11	55190	broad.mit.edu	37	chrX	51238820	51238820	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactagggatcgctatctggCgaggatggggccatggagtt	8	10	16	7	2	1	0	0	0	1	0	2	4	1	3	1	6	1	2	1	6	3	4			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:51238820C>T	ENST00000375992.3	-	1	628	c.477G>A	c.(475-477)tcG>tcA	p.S159S		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	159						cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CGCTATCTGGCGAGGATGGGG	0.562										HNSCC(48;0.14)			4	31					0	0	0	0	T	51238820	C	T	51238820	2	4	363	1	0	0	0	0	0	0	0	1	10798	755	27	1		1	NUDT11	23	51238820	Silent	SNP	C	TCGA-D6-6515-01A-21D-1870-08	3930175	51238820	104031740	63	68925											
PCDH11X	27328	broad.mit.edu	37	chrX	91133558	91133558	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtcaatctgttcgtgaaTgagtcggtgaccaatgctac	10	13	10	8	2	2	3	1	3	1	0	4	3	2	3	1	1	2	2	1	1	4	3			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:91133558T>A	ENST00000373094.1	+	2	3164	c.2319T>A	c.(2317-2319)aaT>aaA	p.N773K	PCDH11X_ENST00000373097.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N773K|PCDH11X_ENST00000504220.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N773K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N773K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	773	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGTTCGTGAATGAGTCGGTGA	0.433													15	124					0	0	0	0	A	91133558	T	A	91133558	3	1	363	1	0	0	0	0	1	0	0	0	11579	1461	51	5	2325	5	PCDH11X	23	91133558	Missense_Mutation	SNP	T	TCGA-D6-6515-01A-21D-1870-08	39894738	91133558	64137002	64	68926											
SMARCA1	6594	broad.mit.edu	37	chrX	128615129	128615129	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagtttgctttgcgttctcGtttaggaggttcaatccatt	6	18	10	7	2	2	0	1	0	1	0	4	1	3	1	1	2	2	6	1	2	3	8			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:128615129G>A	ENST00000371122.4	-	18	2380	c.2251C>T	c.(2251-2253)Cga>Tga	p.R751*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R739*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R739*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	751					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTGCGTTCTCGTTTAGGAGGT	0.423													11	49					0	0	0	0	A	128615129	G	A	128615129	4	1	363	1	0	0	0	0	0	1	0	0	14856	1153	40	1	941	1	SMARCA1	23	128615129	Nonsense_Mutation	SNP	G	TCGA-D6-6515-01A-21D-1870-08	37481571	128615129	26655431	65	68927											
PNMA3	29944	broad.mit.edu	37	chrX	152226306	152226306	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcgcctgaaacgagtcttAagtggggccacccttcctga	9	9	10	13	2	1	2	0	2	1	0	3	3	2	2	4	2	1	0	4	2	2	2			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:152226306A>G	ENST00000447306.1	+	2	1230	c.894A>G	c.(892-894)ttA>ttG	p.L298L	PNMA3_ENST00000370264.4_Silent_p.L298L|PNMA3_ENST00000370265.4_Silent_p.L298L	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	298					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					aacgagtcttaagtggggcca	0.502													6	63					0	0	0	0	G	152226306	A	G	152226306	2	3	363	1	0	0	0	0	0	0	0	1	12227	359	13	5		5	PNMA3	23	152226306	Silent	SNP	A	TCGA-D6-6515-01A-21D-1870-08	23611177	152226306	3044254	66	68928											
F8	2157	broad.mit.edu	37	chrX	154250784	154250784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtggcactaaagcagaatCgcaaaaggcacagaaagaag	18	4	12	7	1	0	3	0	0	0	3	1	3	0	3	0	3	1	4	0	3	7	1			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:154250784C>T	ENST00000360256.4	-	1	244	c.44G>A	c.(43-45)cGa>cAa	p.R15Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	15					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAAGCAGAATCGCAAAAGGCA	0.448													4	117					0	0	0	0	T	154250784	C	T	154250784	3	4	363	1	0	0	0	0	1	0	0	0	5388	884	31	1	7143	1	F8	23	154250784	Missense_Mutation	SNP	C	TCGA-D6-6515-01A-21D-1870-08	2024478	154250784	1019776	67	68929											
KLHL17	339451	broad.mit.edu	37	chr1	900538	900538	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatttcccgccgccatcctcCccgacgctgtccgtgtcctc	4	10	7	20	5	0	0	0	0	0	0	6	1	5	0	8	0	0	1	8	0	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:900538C>T	ENST00000338591.3	+	12	2003	c.1896C>T	c.(1894-1896)tcC>tcT	p.S632S		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	632	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCCATCCTCCCCGACGCTGT	0.667													7	17					0	0	0	0	T	900538	C	T	900538	2	4	364	1	0	0	0	0	0	0	0	1	8424	610	22	4		4	KLHL17	1	900538	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08		900538	248350083	1	68930											
CCNL2	81669	broad.mit.edu	37	chr1	1322774	1322774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgacctgcttcgagaacggGaagaactccggctccgagac	10	6	13	12	4	0	4	0	1	0	3	3	7	2	5	3	2	3	2	3	2	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:1322774G>A	ENST00000400809.3	-	11	1405	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.S245F	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	467					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TCGAGAACGGGAAGAACTCCG	0.572													27	83					0	0	0	0	A	1322774	G	A	1322774	3	1	364	1	0	0	0	0	1	0	0	0	2961	1174	41	2	166	2	CCNL2	1	1322774	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	422236	1322774	247927847	2	68931											
CCNL2	81669	broad.mit.edu	37	chr1	1322852	1322852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgggagccccgaatctcaGagcctttgtagggagcgctg	7	8	14	12	3	1	1	1	0	1	1	3	4	2	3	4	2	3	2	4	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:1322852G>A	ENST00000400809.3	-	11	1327	c.1322C>T	c.(1321-1323)tCt>tTt	p.S441F	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.S219F	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	441					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCGAATCTCAGAGCCTTTGTA	0.642													9	28					0	0	0	0	A	1322852	G	A	1322852	3	1	364	1	0	0	0	0	1	0	0	0	2961	942	33	2	244	2	CCNL2	1	1322852	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	78	1322852	247927769	3	68932											
PRKCZ	5590	broad.mit.edu	37	chr1	2103808	2103808	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aattacatcgcccccgaaatCctgcggggagaggagtacgg	11	6	13	11	4	0	1	0	0	0	1	2	4	1	2	3	4	3	1	3	4	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:2103808C>T	ENST00000400921.2	+	10	1400	c.717C>T	c.(715-717)atC>atT	p.I239I	PRKCZ_ENST00000400920.1_Silent_p.I239I|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	422					anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CCCCCGAAATCCTGCGGGGAG	0.647													4	12					0	0	0	0	T	2103808	C	T	2103808	2	4	364	1	0	0	0	0	0	0	0	1	12597	845	30	2		2	PRKCZ	1	2103808	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	780956	2103808	247146813	4	68933											
SKI	6497	broad.mit.edu	37	chr1	2234517	2234517	+	Missense_Mutation	SNP	G	G	A																															caagccgtccagctggctgcGgaccttggccggctcttcca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:2234517G>A	ENST00000378536.4	+	2	1142	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	357					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		AGCTGGCTGCGGACCTTGGCC	0.642													16	45					0	0	0	0	A	2234517	G	A	2234517	3	1	364	1	0	0	0	0	1	0	0	0	14445	1116	39	1	1076	1	SKI	1	2234517	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	130709	2234517	247016104	5	68934	838	2									
SKI	6497	broad.mit.edu	37	chr1	2234518	2234518	+	Silent	SNP	G	G	A																															aagccgtccagctggctgcgGaccttggccggctcttccaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:2234518G>A	ENST00000378536.4	+	2	1143	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	357					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCTGGCTGCGGACCTTGGCCG	0.637													16	45					0	0	0	0	A	2234518	G	A	2234518	2	1	364	1	0	0	0	0	0	0	0	1	14445	1161	41	2		2	SKI	1	2234518	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	2234518	247016103	6	68935	838	2									
PRDM16	63976	broad.mit.edu	37	chr1	3313153	3313153	+	Silent	SNP	G	G	A																															ggcacagtgccgcccggcctGgacggtaagacccctccccc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:3313153G>A	ENST00000378398.3	+	6	757	c.675G>A	c.(673-675)ctG>ctA	p.L225L	PRDM16_ENST00000378391.2_Silent_p.L224L|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.L224L|PRDM16_ENST00000441472.2_Silent_p.L224L|PRDM16_ENST00000514189.1_Silent_p.L225L|PRDM16_ENST00000270722.5_Silent_p.L224L|PRDM16_ENST00000511072.1_Silent_p.L225L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	224					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGCCCGGCCTGGACGGTAAGA	0.637			T	EVI1	"MDS, AML"								4	6					0	0	0	0	A	3313153	G	A	3313153	2	1	364	1	0	0	0	0	0	0	0	1	12537	1335	47	4		4	PRDM16	1	3313153	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1078635	3313153	245937468	7	68936	839	2									
PRDM16	63976	broad.mit.edu	37	chr1	3313154	3313154	+	Missense_Mutation	SNP	G	G	A																															gcacagtgccgcccggcctgGacggtaagacccctccccca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:3313154G>A	ENST00000378398.3	+	6	758	c.676G>A	c.(676-678)Gac>Aac	p.D226N	PRDM16_ENST00000378391.2_Missense_Mutation_p.D225N|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.D225N|PRDM16_ENST00000441472.2_Missense_Mutation_p.D225N|PRDM16_ENST00000514189.1_Missense_Mutation_p.D226N|PRDM16_ENST00000270722.5_Missense_Mutation_p.D225N|PRDM16_ENST00000511072.1_Missense_Mutation_p.D226N			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	225					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCCCGGCCTGGACGGTAAGAC	0.637			T	EVI1	"MDS, AML"								4	5					0	0	0	0	A	3313154	G	A	3313154	3	1	364	1	0	0	0	0	1	0	0	0	12537	1174	41	2	691	2	PRDM16	1	3313154	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	3313154	245937467	8	68937	839	2									
PLEKHG5	57449	broad.mit.edu	37	chr1	6536025	6536025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agagctctcctcctcctcctCctccaagtccactgcggggc	5	9	8	19	1	1	1	0	0	1	1	8	1	7	1	7	2	2	1	7	2	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:6536025C>T	ENST00000377748.1	-	4	843	c.346G>A	c.(346-348)Gag>Aag	p.E116K	PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E108K|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E116K|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.E95K|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E39K|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E39K|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E39K|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E39K|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E118K|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E39K|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E76K|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E39K	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	95					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTCCTCCTCCTCCAAGTCC	0.642											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	47					0	0	0	0	T	6536025	C	T	6536025	3	4	364	1	0	0	0	0	1	0	0	0	12145	864	30	2	2981	2	PLEKHG5	1	6536025	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3222871	6536025	242714596	9	68938											
ZBTB48	3104	broad.mit.edu	37	chr1	6640991	6640991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgcgagtgccagaggccGtagagctgtgccagagcttc	8	8	15	10	2	0	3	0	0	0	3	1	4	0	3	3	1	5	4	3	1	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:6640991G>A	ENST00000377674.4	+	2	480	c.322G>A	c.(322-324)Gta>Ata	p.V108I		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	108						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GCCAGAGGCCGTAGAGCTGTG	0.607													6	30					0	0	0	0	A	6640991	G	A	6640991	3	1	364	1	0	0	0	0	1	0	0	0	17644	1145	40	1	324	1	ZBTB48	1	6640991	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	104966	6640991	242609630	10	68939											
ZBTB48	3104	broad.mit.edu	37	chr1	6642211	6642211	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagtcaaatgtaatcCgaaagccctgtgcagctgag	13	7	13	8	1	1	1	1	1	0	0	2	4	2	3	2	2	3	3	2	2	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:6642211C>T	ENST00000377674.4	+	3	942	c.784C>T	c.(784-786)Cga>Tga	p.R262*		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	262						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AAATGTAATCCGAAAGCCCTG	0.582													7	20					0	0	0	0	T	6642211	C	T	6642211	4	4	364	1	0	0	0	0	0	1	0	0	17644	644	23	1	790	1	ZBTB48	1	6642211	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1220	6642211	242608410	11	68940											
PER3	8863	broad.mit.edu	37	chr1	7902768	7902768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgaagattcagctgatGgtgcggccacatcctgtggt	11	10	12	8	1	1	3	1	2	0	1	2	3	2	3	2	3	2	1	2	3	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:7902768G>A	ENST00000377532.3	+	21	3810	c.3586G>A	c.(3586-3588)Ggt>Agt	p.G1196S	PER3_ENST00000361923.2_Missense_Mutation_p.G1187S			P56645	PER3_HUMAN	period circadian clock 3	1187	CRY binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAGCTGATGGTGCGGCCAC	0.448													17	56					0	0	0	0	A	7902768	G	A	7902768	3	1	364	1	0	0	0	0	1	0	0	0	11802	1348	47	4	3641	4	PER3	1	7902768	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1260557	7902768	241347853	12	68941											
UBE4B	10277	broad.mit.edu	37	chr1	10166447	10166447	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggtatcgcccctacacTgtcactcacccatgggcgtc	6	8	9	18	4	2	0	2	0	0	0	4	0	2	0	4	2	1	1	4	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:10166447T>G	ENST00000343090.6	+	7	1077	c.1002T>G	c.(1000-1002)acT>acG	p.T334T	UBE4B_ENST00000377157.3_Intron|UBE4B_ENST00000253251.8_Intron	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	334					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCCCCTACACTGTCACTCACC	0.647													18	61					0	0	0	0	G	10166447	T	G	10166447	2	3	364	1	0	0	0	0	0	0	0	1	16979	1567	55	5		5	UBE4B	1	10166447	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	2263679	10166447	239084174	13	68942											
MASP2	10747	broad.mit.edu	37	chr1	11105536	11105536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtagaaaccgcccaggtggTtgtggcagtggtggtcgcag	8	8	17	8	2	0	1	0	0	0	1	1	1	0	1	2	5	1	4	2	5	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:11105536T>C	ENST00000400897.3	-	4	488	c.473A>G	c.(472-474)aAc>aGc	p.N158S	MASP2_ENST00000400898.3_Missense_Mutation_p.N158S	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	158	EGF-like; calcium-binding.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCCCAGGTGGTTGTGGCAGTG	0.682													12	22					0	0	0	0	C	11105536	T	C	11105536	3	2	364	1	0	0	0	0	1	0	0	0	9392	1725	60	5	1637	5	MASP2	1	11105536	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	939089	11105536	238145085	14	68943											
CLCN6	1185	broad.mit.edu	37	chr1	11887266	11887266	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttctggaaccaagggctCacgtggaaagtggtgaggag	10	8	15	8	1	2	1	1	1	1	0	3	4	3	4	2	5	1	1	2	5	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:11887266C>T	ENST00000346436.6	+	10	880	c.828C>T	c.(826-828)ctC>ctT	p.L276L	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Silent_p.L276L|CLCN6_ENST00000312413.6_Silent_p.L276L|CLCN6_ENST00000376487.3_Silent_p.L254L	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	276					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAAGGGCTCACGTGGAAAG	0.552													11	45					0	0	0	0	T	11887266	C	T	11887266	2	4	364	1	0	0	0	0	0	0	0	1	3497	826	29	2		2	CLCN6	1	11887266	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	781730	11887266	237363355	15	68944											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907779	12907779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggaaactgtacattcCatcataataatcccgttgaa	13	12	7	9	1	1	1	1	1	0	0	3	2	3	2	2	1	3	3	2	1	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:12907779C>T	ENST00000317869.6	-	2	589	c.364G>A	c.(364-366)Gga>Aga	p.G122R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTGTACATTCCATCATAATAA	0.498													13	61					0	0	0	0	T	12907779	C	T	12907779	3	4	364	1	0	0	0	0	1	0	0	0	7313	603	21	4	519	4	HNRNPCL1	1	12907779	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1020513	12907779	236342842	16	68945											
PRAMEF10	343071	broad.mit.edu	37	chr1	12955430	12955430	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaccagtgtatcaagtccCctcaggacagcttgcaaggt	10	8	10	13	0	2	0	2	0	0	0	3	1	3	1	4	2	2	3	4	2	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:12955430C>T	ENST00000235347.4	-	2	328	c.249G>A	c.(247-249)agG>agA	p.R83R		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	83										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TATCAAGTCCCCTCAGGACAG	0.607													15	39					0	0	0	0	T	12955430	C	T	12955430	2	4	364	1	0	0	0	0	0	0	0	1	12502	622	22	4		4	PRAMEF10	1	12955430	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	47651	12955430	236295191	17	68946											
TMEM51	55092	broad.mit.edu	37	chr1	15541602	15541603	+	Frame_Shift_Del	DEL	GC	GC	-																															acatgatggcccagtccaagGccaatggctcgcactatgcg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:15541602_15541603delGC	ENST00000428417.1	+	2	465_466	c.19_20delGC	c.(19-21)cfs	p.A7fs	TMEM51_ENST00000400796.3_Frame_Shift_Del_p.A7fs|TMEM51_ENST00000376014.3_Frame_Shift_Del_p.A7fs|TMEM51_ENST00000376008.2_Frame_Shift_Del_p.A7fs|TMEM51_ENST00000434578.2_Frame_Shift_Del_p.A7fs	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	7						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CCAGTCCAAGGCCAATGGCTCG	0.569													21	60	---	---	---	---					-	15541603	GC	-	15541602	7	5	364	1	0	1	0	1	0	0	0	0	16271	1203	42	0	21	0	TMEM51	1	15541602	Frame_Shift_Del	DEL	GC	TCGA-D6-6516-01A-11D-1870-08	2586172	15541602	233709019	18	68947											
CELA2B	51032	broad.mit.edu	37	chr1	15812401	15812401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggtctcattcagccaacGgggctctccctgatgacctg	6	11	10	14	1	4	2	2	2	3	0	6	2	4	2	3	3	2	1	3	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:15812401G>A	ENST00000375910.3	+	6	524	c.499G>A	c.(499-501)Ggg>Agg	p.G167R		NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	167	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TTCAGCCAACGGGGCTCTCCC	0.562													39	116					0	0	0	0	A	15812401	G	A	15812401	3	1	364	1	0	0	0	0	1	0	0	0	3241	1116	39	1	521	1	CELA2B	1	15812401	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	270799	15812401	233438220	19	68948											
FBLIM1	54751	broad.mit.edu	37	chr1	16093894	16093894	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccccctcctcctgtcCtggatggtgaggacgtgctt	4	10	11	16	1	0	1	0	1	0	0	3	3	3	3	6	3	1	1	6	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:16093894C>T	ENST00000375766.3	+	4	914	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000375771.1_Silent_p.L92L|FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000441801.2_Silent_p.L92L	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	92	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TCCTCCTGTCCTGGATGGTGA	0.627													3	27					0	0	0	0	T	16093894	C	T	16093894	2	4	364	1	0	0	0	0	0	0	0	1	5742	680	24	4		4	FBLIM1	1	16093894	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	281493	16093894	233156727	20	68949											
ATP13A2	23400	broad.mit.edu	37	chr1	17312618	17312618	+	Silent	SNP	G	G	A																															tagacagtcgccaacctcagGgatgtgggaggtggtggcgg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:17312618G>A	ENST00000341676.5	-	27	3515	c.3339C>T	c.(3337-3339)tcC>tcT	p.S1113S	ATP13A2_ENST00000326735.8_3'UTR|ATP13A2_ENST00000452699.1_3'UTR|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141974.1	NP_001135446.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	476					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCAACCTCAGGGATGTGGGAG	0.647													8	14					0	0	0	0	A	17312618	G	A	17312618	2	1	364	1	0	0	0	0	0	0	0	1	1128	1219	43	4		4	ATP13A2	1	17312618	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1218724	17312618	231938003	21	68950	840	2									
ATP13A2	23400	broad.mit.edu	37	chr1	17312619	17312619	+	Missense_Mutation	SNP	G	G	A																															agacagtcgccaacctcaggGatgtgggaggtggtggcggt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:17312619G>A	ENST00000341676.5	-	27	3514	c.3338C>T	c.(3337-3339)tCc>tTc	p.S1113F	ATP13A2_ENST00000326735.8_3'UTR|ATP13A2_ENST00000452699.1_3'UTR|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141974.1	NP_001135446.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	476					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CAACCTCAGGGATGTGGGAGG	0.647													8	14					0	0	0	0	A	17312619	G	A	17312619	3	1	364	1	0	0	0	0	1	0	0	0	1128	1174	41	2	142	2	ATP13A2	1	17312619	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	17312619	231938002	22	68951	840	2									
ACTL8	81569	broad.mit.edu	37	chr1	18149591	18149591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgagcctcagatggtcttcCcgaacatcgtgaactaccta	11	10	8	12	2	2	3	1	2	1	1	4	4	3	3	3	1	4	0	3	1	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:18149591C>T	ENST00000375406.1	+	2	304	c.88C>T	c.(88-90)Ccg>Tcg	p.P30S		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	30						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GATGGTCTTCCCGAACATCGT	0.582													15	36					0	0	0	0	T	18149591	C	T	18149591	3	4	364	1	0	0	0	0	1	0	0	0	202	623	22	4	90	4	ACTL8	1	18149591	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	836972	18149591	231101030	23	68952											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809042	18809042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtctggcgcccgctggctCgcatgccccccgaggccgtg	3	7	14	17	5	1	0	0	0	1	0	2	1	1	0	5	3	1	3	5	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:18809042C>T	ENST00000400664.1	+	1	1619	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	523						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGCTGGCTCGCATGCCCCC	0.672													14	41					0	0	0	0	T	18809042	C	T	18809042	3	4	364	1	0	0	0	0	1	0	0	0	8412	884	31	1	1569	1	KLHDC7A	1	18809042	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	659451	18809042	230441579	24	68953											
UBR4	23352	broad.mit.edu	37	chr1	19447897	19447897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacacgccctcatccacaagGaaactgacttggaggaggaa	14	5	11	11	1	1	1	1	1	0	0	2	6	2	5	2	4	1	0	2	4	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:19447897G>A	ENST00000375267.2	-	68	9930	c.9927C>T	c.(9925-9927)ttC>ttT	p.F3309F	UBR4_ENST00000375217.2_Silent_p.F3302F|UBR4_ENST00000375254.3_Silent_p.F3309F|UBR4_ENST00000375226.2_Silent_p.F3285F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3309					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CATCCACAAGGAAACTGACTT	0.582													5	35					0	0	0	0	A	19447897	G	A	19447897	2	1	364	1	0	0	0	0	0	0	0	1	17000	1165	41	2		2	UBR4	1	19447897	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	638855	19447897	229802724	25	68954											
AKR7A2	8574	broad.mit.edu	37	chr1	19630782	19630782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttgattaaaggcatccacGacagccggctccaggggccc	9	6	12	14	2	0	1	0	1	0	0	2	2	2	1	4	4	1	3	4	4	2	2	rs148319333		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:19630782G>A	ENST00000235835.3	-	7	1038	c.1017C>T	c.(1015-1017)gtC>gtT	p.V339V		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	339					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCATCCACGACAGCCGGCT	0.602													26	42					0	0	0	0	A	19630782	G	A	19630782	2	1	364	1	0	0	0	0	0	0	0	1	475	1045	37	1		1	AKR7A2	1	19630782	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	182885	19630782	229619839	26	68955											
AKR7A2	8574	broad.mit.edu	37	chr1	19630871	19630871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggatgaccgcgtcccCgtgggcaccctgcaagggag	7	4	15	15	3	0	1	0	1	0	0	1	3	1	3	5	3	1	2	5	3	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:19630871C>T	ENST00000235835.3	-	7	949	c.928G>A	c.(928-930)Ggg>Agg	p.G310R		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	310					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCGCGTCCCCGTGGGCACCC	0.647													29	67					0	0	0	0	T	19630871	C	T	19630871	3	4	364	1	0	0	0	0	1	0	0	0	475	652	23	1	155	1	AKR7A2	1	19630871	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	89	19630871	229619750	27	68956											
PLA2G5	5322	broad.mit.edu	37	chr1	20417131	20417131	+	Silent	SNP	C	C	T																															gtctactgcctcaagagaaaCctacggagctacaacccaca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:20417131C>T	ENST00000375108.3	+	5	631	c.363C>T	c.(361-363)aaC>aaT	p.N121N	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	121					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TCAAGAGAAACCTACGGAGCT	0.542													24	76					0	0	0	0	T	20417131	C	T	20417131	2	4	364	1	0	0	0	0	0	0	0	1	12079	506	18	4		4	PLA2G5	1	20417131	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	786260	20417131	228833490	28	68957	841	2									
PLA2G5	5322	broad.mit.edu	37	chr1	20417132	20417132	+	Silent	SNP	C	C	T																															tctactgcctcaagagaaacCtacggagctacaacccacag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:20417132C>T	ENST00000375108.3	+	5	632	c.364C>T	c.(364-366)Cta>Tta	p.L122L	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	122					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CAAGAGAAACCTACGGAGCTA	0.537													25	73					0	0	0	0	T	20417132	C	T	20417132	2	4	364	1	0	0	0	0	0	0	0	1	12079	680	24	4		4	PLA2G5	1	20417132	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	20417132	228833489	29	68958	841	2									
MAN1C1	57134	broad.mit.edu	37	chr1	26012975	26012975	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tataagcgttatgcaatgggGaaaaacgaactccgtccact	14	9	9	9	3	0	0	0	0	0	0	2	2	2	1	2	2	4	2	2	2	7	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:26012975G>A	ENST00000374332.4	+	2	915	c.585G>A	c.(583-585)ggG>ggA	p.G195G	MAN1C1_ENST00000263979.3_Silent_p.G15G	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	195					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATGCAATGGGGAAAAACGAAC	0.498													33	95					0	0	0	0	A	26012975	G	A	26012975	2	1	364	1	0	0	0	0	0	0	0	1	9282	1161	41	2		2	MAN1C1	1	26012975	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5595843	26012975	223237646	30	68959											
SLC30A2	7780	broad.mit.edu	37	chr1	26366380	26366380	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagatcacgaacagctgtGaagtcaacgcccttgggggt	11	7	13	10	2	2	2	2	1	0	1	2	3	2	2	1	2	4	2	1	2	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:26366380G>A	ENST00000374278.3	-	6	930	c.714C>T	c.(712-714)ttC>ttT	p.F238F	SLC30A2_ENST00000374276.3_Silent_p.F287F	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	238					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GAACAGCTGTGAAGTCAACGC	0.617													7	18					0	0	0	0	A	26366380	G	A	26366380	2	1	364	1	0	0	0	0	0	0	0	1	14643	1281	45	2		2	SLC30A2	1	26366380	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	353405	26366380	222884241	31	68960											
RPS6KA1	6195	broad.mit.edu	37	chr1	26877918	26877918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtccggaccaagatggagaGagacatcctggctgatgtaa	12	7	13	9	2	0	4	0	1	0	3	2	7	2	5	3	3	0	2	3	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:26877918G>A	ENST00000374168.2	+	5	492	c.338G>A	c.(337-339)aGa>aAa	p.R113K	RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R21K|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R21K|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R97K|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R122K|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R113K	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	113	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.R122T(1)		lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AAGATGGAGAGAGACATCCTG	0.567													10	24					0	0	0	0	A	26877918	G	A	26877918	3	1	364	1	0	0	0	0	1	0	0	0	13735	942	33	2	495	2	RPS6KA1	1	26877918	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	511538	26877918	222372703	32	68961											
ARID1A	8289	broad.mit.edu	37	chr1	27057646	27057646	+	Missense_Mutation	SNP	C	C	T																															attttcctttcctacagattCctccttatggacaacaaggc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27057646C>T	ENST00000324856.7	+	3	1725	c.1354C>T	c.(1354-1356)Cct>Tct	p.P452S	ARID1A_ENST00000457599.2_Missense_Mutation_p.P452S|ARID1A_ENST00000374152.2_Missense_Mutation_p.P69S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	452					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTACAGATTCCTCCTTATGG	0.468			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								35	124					0	0	0	0	T	27057646	C	T	27057646	3	4	364	1	0	0	0	0	1	0	0	0	915	855	30	2	1364	2	ARID1A	1	27057646	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	179728	27057646	222192975	33	68962	842	2									
ARID1A	8289	broad.mit.edu	37	chr1	27057647	27057647	+	Missense_Mutation	SNP	C	C	T																															ttttcctttcctacagattcCtccttatggacaacaaggcc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27057647C>T	ENST00000324856.7	+	3	1726	c.1355C>T	c.(1354-1356)cCt>cTt	p.P452L	ARID1A_ENST00000457599.2_Missense_Mutation_p.P452L|ARID1A_ENST00000374152.2_Missense_Mutation_p.P69L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	452					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTACAGATTCCTCCTTATGGA	0.473			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								35	125					0	0	0	0	T	27057647	C	T	27057647	3	4	364	1	0	0	0	0	1	0	0	0	915	681	24	4	1365	4	ARID1A	1	27057647	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	27057647	222192974	34	68963	842	2									
ZDHHC18	84243	broad.mit.edu	37	chr1	27176873	27176873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctacgcgtttattctctCcctctcattcctgacggcct	4	16	5	16	3	3	1	1	1	3	0	7	1	5	1	3	1	1	1	3	1	2	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27176873C>T	ENST00000374142.3	+	4	823	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	243						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TTTATTCTCTCCCTCTCATTC	0.582													13	47					0	0	0	0	T	27176873	C	T	27176873	3	4	364	1	0	0	0	0	1	0	0	0	17703	855	30	2	742	2	ZDHHC18	1	27176873	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	119226	27176873	222073748	35	68964											
SFN	2810	broad.mit.edu	37	chr1	27190366	27190366	+	Silent	SNP	G	G	A																															gacagcaccctcatcatgcaGctgctgcgagacaacctgac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27190366G>A	ENST00000339276.4	+	1	734	c.663G>A	c.(661-663)caG>caA	p.Q221Q		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	221					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		TCATCATGCAGCTGCTGCGAG	0.637													25	57					0	0	0	0	A	27190366	G	A	27190366	2	1	364	1	0	0	0	0	0	0	0	1	14246	962	34	4		4	SFN	1	27190366	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	13493	27190366	222060255	36	68965	843	2									
SFN	2810	broad.mit.edu	37	chr1	27190376	27190376	+	Missense_Mutation	SNP	G	G	A																															tcatcatgcagctgctgcgaGacaacctgacactgtggacg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27190376G>A	ENST00000339276.4	+	1	744	c.673G>A	c.(673-675)Gac>Aac	p.D225N		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	225					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GCTGCTGCGAGACAACCTGAC	0.652													18	53					0	0	0	0	A	27190376	G	A	27190376	3	1	364	1	0	0	0	0	1	0	0	0	14246	942	33	2	675	2	SFN	1	27190376	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	10	27190376	222060245	37	68966	843	2									
NR0B2	8431	broad.mit.edu	37	chr1	27240329	27240329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acataggcagcggctacgggGtcgggggacagccttgaggc	8	5	18	10	3	0	1	0	1	0	0	1	2	0	2	1	7	3	2	1	7	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27240329G>A	ENST00000254227.3	-	1	128	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	35					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CGGCTACGGGGTCGGGGGACA	0.662													6	41					0	0	0	0	A	27240329	G	A	27240329	3	1	364	1	0	0	0	0	1	0	0	0	10685	1261	44	4	678	4	NR0B2	1	27240329	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	49953	27240329	222010292	38	68967											
DCDC2B	149069	broad.mit.edu	37	chr1	32678090	32678090	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctcacctctctctcccaGactctgcaccctagaggggc	6	9	7	19	0	4	2	1	0	3	2	7	2	5	2	4	2	1	1	4	2	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:32678090G>A	ENST00000409358.1	+	5	527		c.e5-1			NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B						intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTCTCTCCCAGACTCTGCACC	0.562													9	20					0	0	0	0	A	32678090	G	A	32678090	5	1	364	1	0	0	0	0	0	0	1	0	4318	956	33	2	545	2	DCDC2B	1	32678090	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5437761	32678090	216572531	39	68968											
LCK	3932	broad.mit.edu	37	chr1	32742008	32742008	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagccccagaagccgtggtgGgaggacgagtgggaggttcc	9	5	18	9	2	0	1	0	0	0	1	1	5	1	4	4	5	2	1	4	5	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:32742008G>A	ENST00000333070.4	+	8	802	c.702G>A	c.(700-702)tgG>tgA	p.W234*	LCK_ENST00000336890.5_Nonsense_Mutation_p.W234*|LCK_ENST00000373564.3_Intron	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	234	Interaction with PTPRH.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	AGCCGTGGTGGGAGGACGAGT	0.662			T	TRB@	T-ALL								6	21					0	0	0	0	A	32742008	G	A	32742008	4	1	364	1	0	0	0	0	0	1	0	0	8729	1241	43	4	728	4	LCK	1	32742008	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	63918	32742008	216508613	40	68969											
CSMD2	114784	broad.mit.edu	37	chr1	34554764	34554764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctctcaactgtcccattgGgaccgtgcagttggaacgtg	7	10	13	11	2	1	0	1	0	1	0	3	2	2	2	2	3	3	3	2	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:34554764G>A	ENST00000373381.4	-	2	394	c.218C>T	c.(217-219)cCc>cTc	p.P73L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	33	CUB 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTCCCATTGGGACCGTGCAG	0.532													8	23					0	0	0	0	A	34554764	G	A	34554764	3	1	364	1	0	0	0	0	1	0	0	0	3977	1232	43	4	10637	4	CSMD2	1	34554764	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1812756	34554764	214695857	41	68970											
ZMYM6	9204	broad.mit.edu	37	chr1	35476584	35476584	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttacaaccacttggccCtgagacaggggcaccgccga	9	5	13	14	2	0	1	0	1	0	1	0	3	0	1	4	4	2	2	4	4	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:35476584C>G	ENST00000357182.4	-	9	1343	c.1116G>C	c.(1114-1116)caG>caC	p.Q372H	ZMYM6_ENST00000373340.2_Missense_Mutation_p.Q372H|ZMYM6_ENST00000487874.1_Missense_Mutation_p.Q372H|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	372					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CCACTTGGCCCTGAGACAGGG	0.493													15	37					0	0	0	0	G	35476584	C	G	35476584	3	3	364	1	0	0	0	0	1	0	0	0	17799	680	24	4	2893	4	ZMYM6	1	35476584	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	921820	35476584	213774037	42	68971											
COL8A2	1296	broad.mit.edu	37	chr1	36564591	36564591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctaagccagctggaccagGgaggccgggggggccggggg	6	2	22	11	2	0	0	0	0	0	0	0	2	0	2	5	8	2	1	5	8	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:36564591G>A	ENST00000397799.1	-	4	915	c.691C>T	c.(691-693)Cct>Tct	p.P231S	COL8A2_ENST00000303143.4_Missense_Mutation_p.P231S|COL8A2_ENST00000481785.1_Missense_Mutation_p.P166S			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	231	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGGACCAGGGAGGCCGGGG	0.716													7	8					0	0	0	0	A	36564591	G	A	36564591	3	1	364	1	0	0	0	0	1	0	0	0	3736	1232	43	4	1424	4	COL8A2	1	36564591	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1088007	36564591	212686030	43	68972											
SLFNL1	200172	broad.mit.edu	37	chr1	41483465	41483465	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggatgccctgcaccaGgccgctgtcctctactccca	6	7	10	18	2	1	0	0	0	1	0	3	1	3	1	5	2	4	3	5	2	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:41483465G>A	ENST00000359345.1	-	2	3375	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L	SLFNL1_ENST00000372613.2_Silent_p.L267L|SLFNL1_ENST00000302946.8_Silent_p.L267L|SLFNL1_ENST00000397197.2_Silent_p.L267L|SLFNL1_ENST00000372611.1_Silent_p.L208L|SLFNL1_ENST00000439569.2_Silent_p.L267L	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	267							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CCCTGCACCAGGCCGCTGTCC	0.662													5	31					0	0	0	0	A	41483465	G	A	41483465	2	1	364	1	0	0	0	0	0	0	0	1	14826	991	35	4		4	SLFNL1	1	41483465	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4918874	41483465	207767156	44	68973											
RIMKLA	284716	broad.mit.edu	37	chr1	42880386	42880386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtccttgctgccaaataGgcagactggaaagatggctg	11	9	12	9	0	0	2	0	0	0	2	1	3	1	3	2	3	2	3	2	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:42880386G>A	ENST00000431473.3	+	5	1046	c.917G>A	c.(916-918)aGg>aAg	p.R306K		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	306					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CTGCCAAATAGGCAGACTGGA	0.532													24	59					0	0	0	0	A	42880386	G	A	42880386	3	1	364	1	0	0	0	0	1	0	0	0	13450	1000	35	4	935	4	RIMKLA	1	42880386	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1396921	42880386	206370235	45	68974											
WDR65	149465	broad.mit.edu	37	chr1	43675661	43675661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgttcatcccttcaacctCccaatgtcttttctctctcc	5	17	2	17	0	5	0	2	0	3	0	9	0	7	0	4	0	1	1	4	0	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:43675661C>T	ENST00000528956.1	+	11	2149	c.2003C>T	c.(2002-2004)tCc>tTc	p.S668F	WDR65_ENST00000372492.4_Intron	NM_001167965.1|NM_152498.3	NP_001161437.1|NP_689711.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	0										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTCAACCTCCCAATGTCTT	0.468													19	66					0	0	0	0	T	43675661	C	T	43675661	3	4	364	1	0	0	0	0	1	0	0	0	17412	855	30	2	2041	2	WDR65	1	43675661	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	795275	43675661	205574960	46	68975											
MED8	112950	broad.mit.edu	37	chr1	43853231	43853231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaatgatgacctggttacgGaacagcggtgttttttcatg	9	13	13	6	2	1	2	1	2	0	0	1	4	1	4	1	4	3	2	1	4	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:43853231G>A	ENST00000372457.4	-	3	256	c.213C>T	c.(211-213)ttC>ttT	p.F71F	MED8_ENST00000372455.4_5'UTR|MED8_ENST00000290663.6_Silent_p.F71F|RP1-92O14.6_ENST00000436713.1_RNA	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	71					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTGGTTACGGAACAGCGGTG	0.463													15	35					0	0	0	0	A	43853231	G	A	43853231	2	1	364	1	0	0	0	0	0	0	0	1	9522	1165	41	2		2	MED8	1	43853231	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	177570	43853231	205397390	47	68976											
DPH2	1802	broad.mit.edu	37	chr1	44437418	44437418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagagggccagagatgccCgcgtggtagggctgctggca	8	6	18	9	2	0	2	0	0	0	2	0	4	0	2	2	4	2	4	2	4	2	2	rs139555604	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:44437418C>T	ENST00000255108.3	+	4	1016	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.R147C	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	282					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CAGAGATGCCCGCGTGGTAGG	0.622													12	37					0	0	0	0	T	44437418	C	T	44437418	3	4	364	1	0	0	0	0	1	0	0	0	4756	652	23	1	858	1	DPH2	1	44437418	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	584187	44437418	204813203	48	68977											
PTCH2	8643	broad.mit.edu	37	chr1	45292235	45292235	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaccagcaggatgcagacGgccagcaggaagcagcgccg	12	1	14	14	3	0	1	0	0	0	1	0	3	0	3	3	3	5	4	3	3	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:45292235G>C	ENST00000447098.2	-	18	2912	c.2901C>G	c.(2899-2901)gcC>gcG	p.A967A	PTCH2_ENST00000372192.3_Silent_p.A967A	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	967					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGATGCAGACGGCCAGCAGGA	0.657									Basal Cell Nevus syndrome				9	22					0	0	0	0	C	45292235	G	C	45292235	2	2	364	1	0	0	0	0	0	0	0	1	12810	1103	39	3		3	PTCH2	1	45292235	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	854817	45292235	203958386	49	68978											
CYP4A22	284541	broad.mit.edu	37	chr1	47614402	47614402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcacgacttgtgttgaaatCcaaaaatggaatccacctgc	13	9	9	10	1	0	1	0	1	0	0	2	3	2	2	3	2	1	2	3	2	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:47614402C>T	ENST00000371891.3	+	12	1524	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.S400F	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	498						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGTTGAAATCCAAAAATGGA	0.582													17	63					0	0	0	0	T	47614402	C	T	47614402	3	4	364	1	0	0	0	0	1	0	0	0	4216	855	30	2	1539	2	CYP4A22	1	47614402	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2322167	47614402	201636219	50	68979											
TAL1	6886	broad.mit.edu	37	chr1	47685629	47685629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtccttgccagtcttggcCcgctgggtgccctcctcctc	1	11	12	17	1	1	0	0	0	1	0	5	0	4	0	6	3	2	1	6	3	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:47685629C>T	ENST00000371883.3	-	4	1341	c.765G>A	c.(763-765)cgG>cgA	p.R255R	TAL1_ENST00000294339.3_Silent_p.R253R|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Silent_p.R253R			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	253					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CAGTCTTGGCCCGCTGGGTGC	0.627			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								5	12					0	0	0	0	T	47685629	C	T	47685629	2	4	364	1	0	0	0	0	0	0	0	1	15632	610	22	4		4	TAL1	1	47685629	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	71227	47685629	201564992	51	68980											
GPX7	2882	broad.mit.edu	37	chr1	53074034	53074034	+	Silent	SNP	G	G	A																															ccaactgtgtcagtggaggaGgtcagaccccagatcacagc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:53074034G>A	ENST00000361314.4	+	3	539	c.501G>A	c.(499-501)gaG>gaA	p.E167E		NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	167					response to oxidative stress	extracellular region	glutathione peroxidase activity			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	CAGTGGAGGAGGTCAGACCCC	0.572													12	67					0	0	0	0	A	53074034	G	A	53074034	2	1	364	1	0	0	0	0	0	0	0	1	6795	991	35	4		4	GPX7	1	53074034	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5388405	53074034	196176587	52	68981	844	2									
GPX7	2882	broad.mit.edu	37	chr1	53074035	53074035	+	Missense_Mutation	SNP	G	G	A																															caactgtgtcagtggaggagGtcagaccccagatcacagcg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:53074035G>A	ENST00000361314.4	+	3	540	c.502G>A	c.(502-504)Gtc>Atc	p.V168I		NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	168					response to oxidative stress	extracellular region	glutathione peroxidase activity			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	AGTGGAGGAGGTCAGACCCCA	0.577													13	68					0	0	0	0	A	53074035	G	A	53074035	3	1	364	1	0	0	0	0	1	0	0	0	6795	1261	44	4	512	4	GPX7	1	53074035	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	53074035	196176586	53	68982	844	2									
TTC22	55001	broad.mit.edu	37	chr1	55252653	55252653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaagcagtctagagggtCggtccctgagtacccgcagt	8	7	14	12	3	1	2	0	1	1	1	3	3	2	2	3	2	2	3	3	2	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:55252653C>A	ENST00000371276.4	-	4	938	c.835G>T	c.(835-837)Gac>Tac	p.D279Y	TTC22_ENST00000371274.4_Missense_Mutation_p.D279Y	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	279							binding	p.D279N(2)		kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCTAGAGGGTCGGTCCCTGAG	0.642													6	8					0.00116845	0.00117846	1	0	A	55252653	C	A	55252653	3	1	364	1	0	0	0	0	1	0	0	0	16785	884	31	3	993	3	TTC22	1	55252653	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2178618	55252653	193997968	54	68983											
INADL	10207	broad.mit.edu	37	chr1	62503685	62503685	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagatggccgttactccCtttccagtgccatcaagttc	9	12	7	13	1	2	1	2	0	0	1	5	1	4	1	4	1	2	2	4	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:62503685C>A	ENST00000371158.2	+	30	4110	c.3996C>A	c.(3994-3996)ccC>ccA	p.P1332P	INADL_ENST00000316485.6_Silent_p.P1332P|INADL_ENST00000545929.1_Silent_p.P5P|INADL_ENST00000543708.1_Silent_p.P116P	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1332					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CCGTTACTCCCTTTCCAGTGC	0.393													16	40					9.16793e-09	9.34397e-09	1	0	A	62503685	C	A	62503685	2	1	364	1	0	0	0	0	0	0	0	1	7784	668	24	4		4	INADL	1	62503685	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	7251032	62503685	186746936	55	68984											
RAVER2	55225	broad.mit.edu	37	chr1	65255158	65255158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctgccatgttgcaagttCttctacagccccagttatgt	8	13	7	13	0	2	0	0	0	2	0	2	0	2	0	4	0	4	4	4	0	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:65255158C>T	ENST00000294428.3	+	5	1144	c.1066C>T	c.(1066-1068)Ctt>Ttt	p.L356F	RAVER2_ENST00000371072.4_Missense_Mutation_p.L356F|RAVER2_ENST00000430964.2_Missense_Mutation_p.L62F			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	356						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GTTGCAAGTTCTTCTACAGCC	0.368													18	41					0	0	0	0	T	65255158	C	T	65255158	3	4	364	1	0	0	0	0	1	0	0	0	13177	913	32	2	1084	2	RAVER2	1	65255158	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2751473	65255158	183995463	56	68985											
LEPR	3953	broad.mit.edu	37	chr1	66031281	66031281	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaattctgtgtggttttgttAcattggggtaagttatttgc	8	19	11	3	0	1	0	0	0	1	0	1	0	1	0	0	3	2	4	0	3	4	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:66031281A>T	ENST00000349533.6	+	3	218	c.33A>T	c.(31-33)ttA>ttT	p.L11F	LEPR_ENST00000344610.8_Missense_Mutation_p.L11F|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.L11F|LEPR_ENST00000371059.3_Missense_Mutation_p.L11F|LEPR_ENST00000371060.3_Missense_Mutation_p.L11F	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	11					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGTTTTGTTACATTGGGGTA	0.323													10	41					0	0	0	0	T	66031281	A	T	66031281	3	4	364	1	0	0	0	0	1	0	0	0	8781	388	14	5	35	5	LEPR	1	66031281	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	776123	66031281	183219340	57	68986											
C1orf173	127254	broad.mit.edu	37	chr1	75037433	75037433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgtgtgtttccttctccttCcatgtccccgtccccttccg	1	17	6	17	2	1	0	0	0	1	0	7	0	6	0	8	0	0	1	8	0	0	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:75037433C>T	ENST00000326665.5	-	14	4179	c.3961G>A	c.(3961-3963)Gaa>Aaa	p.E1321K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1321	Glu-rich.									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						CCTTCTCCTTCCATGTCCCCG	0.562													22	78					0	0	0	0	T	75037433	C	T	75037433	3	4	364	1	0	0	0	0	1	0	0	0	2033	864	30	2	635	2	C1orf173	1	75037433	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	9006152	75037433	174213188	58	68987											
C1orf173	127254	broad.mit.edu	37	chr1	75038398	75038398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccggcttgcctctgcctctCctgtgaaggggctcaagcgt	4	11	12	14	2	3	1	1	1	2	0	5	1	4	1	4	3	3	2	4	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:75038398C>T	ENST00000326665.5	-	14	3214	c.2996G>A	c.(2995-2997)gGa>gAa	p.G999E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	999	Glu-rich.									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						CTCTGCCTCTCCTGTGAAGGG	0.537													17	40					0	0	0	0	T	75038398	C	T	75038398	3	4	364	1	0	0	0	0	1	0	0	0	2033	855	30	2	1600	2	C1orf173	1	75038398	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	965	75038398	174212223	59	68988											
C1orf173	127254	broad.mit.edu	37	chr1	75072544	75072544	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttttctttcctagatttCggcaaagacggttttttgtc	6	19	7	9	2	2	2	0	0	2	2	5	2	3	2	1	2	0	2	1	2	2	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:75072544C>T	ENST00000326665.5	-	10	1448	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.P213P	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	410								p.P410P(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						TCCTAGATTTCGGCAAAGACG	0.413													25	84					0	0	0	0	T	75072544	C	T	75072544	2	4	364	1	0	0	0	0	0	0	0	1	2033	871	31	1		1	C1orf173	1	75072544	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	34146	75072544	174178077	60	68989											
PIGK	10026	broad.mit.edu	37	chr1	77627083	77627083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactccaattgcaggatcaGgttgatgctatggaaagggg	11	9	15	6	0	1	1	1	1	0	0	2	4	2	4	1	6	2	3	1	6	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:77627083G>A	ENST00000370812.3	-	8	733	c.710C>T	c.(709-711)cCt>cTt	p.P237L	PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Missense_Mutation_p.P161L|PIGK_ENST00000445065.1_Missense_Mutation_p.P143L|PIGK_ENST00000359130.1_Missense_Mutation_p.P237L	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	237					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TGCAGGATCAGGTTGATGCTA	0.313													8	25					0	0	0	0	A	77627083	G	A	77627083	3	1	364	1	0	0	0	0	1	0	0	0	11962	1000	35	4	493	4	PIGK	1	77627083	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2554539	77627083	171623538	61	68990											
LPHN2	23266	broad.mit.edu	37	chr1	82408872	82408872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacatataaacttccaaatcGagtagatggtactggatttg	15	12	8	6	1	0	1	0	0	0	1	2	3	1	2	1	2	3	2	1	2	7	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:82408872G>A	ENST00000370728.1	+	8	1262	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	LPHN2_ENST00000370725.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.R206Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R206Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R206Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R210Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R206Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R206Q			O95490	LPHN2_HUMAN	latrophilin 2	206	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTTCCAAATCGAGTAGATGGT	0.363													20	28					0	0	0	0	A	82408872	G	A	82408872	3	1	364	1	0	0	0	0	1	0	0	0	8980	1058	37	1	631	1	LPHN2	1	82408872	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4781789	82408872	166841749	62	68991											
MCOLN3	55283	broad.mit.edu	37	chr1	85486956	85486956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagaccatgttcagagaacGaaactggaaaaagaaaagag	21	4	11	5	1	1	4	1	0	0	4	1	8	1	5	1	1	2	1	1	1	6	1	rs139077973		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:85486956G>A	ENST00000370589.2	-	12	1376	c.1324C>T	c.(1324-1326)Cgt>Tgt	p.R442C	MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.R386C|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	442						integral to membrane	ion channel activity	p.R442C(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TTCAGAGAACGAAACTGGAAA	0.368													15	49					0	0	0	0	A	85486956	G	A	85486956	3	1	364	1	0	0	0	0	1	0	0	0	9466	1058	37	1	345	1	MCOLN3	1	85486956	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3078084	85486956	163763665	63	68992											
COL24A1	255631	broad.mit.edu	37	chr1	86315049	86315049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattaccttttttcctggaCgacctctttgccctggaatt	8	16	6	11	1	1	0	0	0	1	0	2	3	2	2	4	2	2	0	4	2	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:86315049C>T	ENST00000370571.2	-	38	3707	c.3341G>A	c.(3340-3342)cGt>cAt	p.R1114H	COL24A1_ENST00000436319.1_Missense_Mutation_p.R1114H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1114					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTCCTGGACGACCTCTTTG	0.348													21	83					0	0	0	0	T	86315049	C	T	86315049	3	4	364	1	0	0	0	0	1	0	0	0	3713	536	19	1	1895	1	COL24A1	1	86315049	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	828093	86315049	162935572	64	68993											
CLCA1	1179	broad.mit.edu	37	chr1	86939149	86939149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttgaagctacaggaaagcGattttatttcaaaaatgttg	14	13	9	5	1	1	1	1	1	0	0	1	3	1	2	0	1	3	3	0	1	6	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:86939149G>A	ENST00000234701.3	+	3	563	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	CLCA1_ENST00000394711.1_Missense_Mutation_p.R71Q			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	71					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	p.R71P(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ACAGGAAAGCGATTTTATTTC	0.358													17	31					0	0	0	0	A	86939149	G	A	86939149	3	1	364	1	0	0	0	0	1	0	0	0	3487	1058	37	1	218	1	CLCA1	1	86939149	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	624100	86939149	162311472	65	68994											
RBMXL1	494115	broad.mit.edu	37	chr1	89448465	89448465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccccctttctacagaaggggGaagccctctttcttgtctgc	6	12	9	14	0	4	1	0	0	4	1	4	2	4	2	3	2	3	0	3	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:89448465G>A	ENST00000399794.2	-	3	1760	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.P349S|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	349	Ser-rich.						nucleotide binding|RNA binding										ACAGAAGGGGGAAGCCCTCTT	0.537													47	133					0	0	0	0	A	89448465	G	A	89448465	3	1	364	1	0	0	0	0	1	0	0	0	13235	1174	41	2	131	2	RBMXL1	1	89448465	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2509316	89448465	159802156	66	68995											
TGFBR3	7049	broad.mit.edu	37	chr1	92187698	92187698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccaaagccaatactgttagGagcctgaagatatagcaaaa	17	8	8	8	0	0	2	0	1	0	1	1	3	1	3	3	1	4	2	3	1	9	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:92187698G>A	ENST00000212355.4	-	8	1354	c.889C>T	c.(889-891)Cct>Tct	p.P297S	TGFBR3_ENST00000525962.1_Missense_Mutation_p.P297S|TGFBR3_ENST00000370399.2_Missense_Mutation_p.P297S	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	297					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ATACTGTTAGGAGCCTGAAGA	0.308													11	26					0	0	0	0	A	92187698	G	A	92187698	3	1	364	1	0	0	0	0	1	0	0	0	15917	1174	41	2	1706	2	TGFBR3	1	92187698	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2739233	92187698	157062923	67	68996											
C1orf146	388649	broad.mit.edu	37	chr1	92709803	92709803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttattaatggatactaagGaatgtcttctgtcaactgaa	13	16	7	5	0	3	1	1	1	2	0	3	3	3	3	0	2	2	0	0	2	7	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:92709803G>A	ENST00000370373.2	+	5	477	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	C1orf146_ENST00000370375.3_Missense_Mutation_p.E64K			Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	64								p.E64K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		GGATACTAAGGAATGTCTTCT	0.299													13	35					0	0	0	0	A	92709803	G	A	92709803	3	1	364	1	0	0	0	0	1	0	0	0	2022	1175	41	2	200	2	C1orf146	1	92709803	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	522105	92709803	156540818	68	68997											
CCDC18	343099	broad.mit.edu	37	chr1	93645820	93645820	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctgctggggcgatcccggGctgaaagaggcgtcaggtac	7	6	16	12	3	1	2	1	1	0	1	2	3	2	2	2	5	2	3	2	5	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:93645820G>A	ENST00000343253.7	+	0	345				TMED5_ENST00000479918.1_5'UTR|TMED5_ENST00000370282.3_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GCGATCCCGGGCTGAAAGAGG	0.642													3	14					0	0	0	0	A	93645820	G	A	93645820	1	1	364	1	0	0	0	0	0	0	0	0	2820	1218	42	4		4	CCDC18	1	93645820	Translation_Start_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	936017	93645820	155604801	69	68998											
ABCA4	24	broad.mit.edu	37	chr1	94487499	94487499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctttcctccaatggaaattCctccatacctgacaaggaaa	13	10	6	12	0	0	1	0	1	0	0	4	3	4	3	5	2	1	1	5	2	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:94487499C>T	ENST00000370225.3	-	33	4762	c.4676G>A	c.(4675-4677)gGa>gAa	p.G1559E		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1559					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AATGGAAATTCCTCCATACCT	0.512													8	36					0	0	0	0	T	94487499	C	T	94487499	3	4	364	1	0	0	0	0	1	0	0	0	34	855	30	2	2217	2	ABCA4	1	94487499	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	841679	94487499	154763122	70	68999											
FRRS1	391059	broad.mit.edu	37	chr1	100212952	100212952	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagcattacgcgcttctagGagaaagcctttaaatggatg	12	11	10	8	2	2	1	1	0	1	1	2	3	2	2	1	2	3	2	1	2	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:100212952G>A	ENST00000414213.1	-	4	832	c.231C>T	c.(229-231)ctC>ctT	p.L77L	FRRS1_ENST00000287474.5_Silent_p.L77L			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	77	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		GCGCTTCTAGGAGAAAGCCTT	0.388													39	99					0	0	0	0	A	100212952	G	A	100212952	2	1	364	1	0	0	0	0	0	0	0	1	6108	1161	41	2		2	FRRS1	1	100212952	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5725453	100212952	149037669	71	69000											
DBT	1629	broad.mit.edu	37	chr1	100715333	100715333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaacgtgcttaccagcttcCccgcattcctgctccaggtt	7	11	7	16	2	0	0	0	0	0	0	3	0	3	0	5	1	5	5	5	1	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:100715333C>T	ENST00000370132.3	-	1	57	c.44G>A	c.(43-45)gGg>gAg	p.G15E	DBT_ENST00000370131.3_Missense_Mutation_p.G15E	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	15					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TACCAGCTTCCCCGCATTCCT	0.582													9	41					0	0	0	0	T	100715333	C	T	100715333	3	4	364	1	0	0	0	0	1	0	0	0	4291	623	22	4	1448	4	DBT	1	100715333	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	502381	100715333	148535288	72	69001											
COL11A1	1301	broad.mit.edu	37	chr1	103412481	103412481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaccaattgggccagctGtacctgctgacccacgttct	9	10	9	13	1	1	1	0	1	1	0	1	1	1	1	4	1	4	5	4	1	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:103412481G>A	ENST00000358392.2	-	42	3553	c.3236C>T	c.(3235-3237)aCa>aTa	p.T1079I	COL11A1_ENST00000370096.3_Missense_Mutation_p.T1067I|COL11A1_ENST00000353414.4_Missense_Mutation_p.T1028I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T951I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1067	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGGCCAGCTGTACCTGCTGA	0.458													3	19					0	0	0	0	A	103412481	G	A	103412481	3	1	364	1	0	0	0	0	1	0	0	0	3697	1377	48	4	2324	4	COL11A1	1	103412481	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2697148	103412481	145838140	73	69002											
COL11A1	1301	broad.mit.edu	37	chr1	103427456	103427456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccctggggaccttcccctCctttcagtccaggtgcaccc	4	9	10	18	0	1	0	1	0	0	0	4	1	4	1	7	4	1	1	7	4	0	2	rs149000575		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:103427456C>T	ENST00000358392.2	-	41	3487	c.3170G>A	c.(3169-3171)gGa>gAa	p.G1057E	COL11A1_ENST00000370096.3_Missense_Mutation_p.G1045E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1006E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G929E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1045	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTCCCCTCCTTTCAGTCC	0.388													5	36					0	0	0	0	T	103427456	C	T	103427456	3	4	364	1	0	0	0	0	1	0	0	0	3697	855	30	2	2394	2	COL11A1	1	103427456	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	14975	103427456	145823165	74	69003											
COL11A1	1301	broad.mit.edu	37	chr1	103548459	103548459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctttctgtttgtgcaaaatCccgttgtttttgatattccc	6	20	6	9	1	2	1	0	1	2	0	4	1	4	1	2	0	1	4	2	0	3	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:103548459C>T	ENST00000358392.2	-	2	493	c.176G>A	c.(175-177)gGa>gAa	p.G59E	COL11A1_ENST00000370096.3_Missense_Mutation_p.G59E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G59E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G59E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	59	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTGCAAAATCCCGTTGTTTT	0.373													20	48					0	0	0	0	T	103548459	C	T	103548459	3	4	364	1	0	0	0	0	1	0	0	0	3697	855	30	2	5665	2	COL11A1	1	103548459	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	121003	103548459	145702162	75	69004											
CELSR2	1952	broad.mit.edu	37	chr1	109793177	109793177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcccccgggctcagggcagGggaaaggtcaccagaagagt	10	3	17	11	1	2	2	2	0	0	2	2	3	2	3	3	6	0	2	3	6	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:109793177G>A	ENST00000271332.3	+	1	537	c.476G>A	c.(475-477)gGg>gAg	p.G159E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	159					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCAGGGCAGGGGAAAGGTCA	0.642													7	27					0	0	0	0	A	109793177	G	A	109793177	3	1	364	1	0	0	0	0	1	0	0	0	3251	1232	43	4	478	4	CELSR2	1	109793177	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6244718	109793177	139457444	76	69005											
AMIGO1	57463	broad.mit.edu	37	chr1	110051361	110051361	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgctgtgtaactgggcaaGgaatggggcacattgggcag	10	8	17	6	0	0	0	0	0	0	0	0	1	0	1	0	5	2	5	0	5	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:110051361G>A	ENST00000369864.4	-	2	523	c.174C>T	c.(172-174)tcC>tcT	p.S58S	AMIGO1_ENST00000369862.1_Silent_p.S58S			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	58	LRRNT.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AACTGGGCAAGGAATGGGGCA	0.642													8	30					0	0	0	0	A	110051361	G	A	110051361	2	1	364	1	0	0	0	0	0	0	0	1	575	987	35	4		4	AMIGO1	1	110051361	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	258184	110051361	139199260	77	69006											
KCNC4	3749	broad.mit.edu	37	chr1	110754452	110754452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacgtgctcaactactacCgcaccggcaagctgcactgc	9	7	8	17	3	1	0	1	0	0	0	1	0	1	0	3	1	8	5	3	1	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:110754452C>T	ENST00000369787.3	+	1	358	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	KCNC4_ENST00000413138.3_Missense_Mutation_p.R111C|KCNC4_ENST00000438661.2_Missense_Mutation_p.R111C	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	111					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAACTACTACCGCACCGGCAA	0.682													13	31					0	0	0	0	T	110754452	C	T	110754452	3	4	364	1	0	0	0	0	1	0	0	0	8070	652	23	1	333	1	KCNC4	1	110754452	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	703091	110754452	138496169	78	69007											
KCNA2	3737	broad.mit.edu	37	chr1	111147020	111147020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccttgatgtagccttcatCttcccgaaacatctccatcg	8	13	5	15	2	3	1	1	1	2	0	7	2	5	1	4	0	2	1	4	0	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:111147020C>T	ENST00000485317.1	-	3	1058	c.385G>A	c.(385-387)Gat>Aat	p.D129N	KCNA2_ENST00000369770.3_Missense_Mutation_p.D129N|KCNA2_ENST00000316361.4_Missense_Mutation_p.D129N|KCNA2_ENST00000440270.1_Missense_Mutation_p.D129N|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	129						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TAGCCTTCATCTTCCCGAAAC	0.488													11	37					0	0	0	0	T	111147020	C	T	111147020	3	4	364	1	0	0	0	0	1	0	0	0	8056	913	32	2	1118	2	KCNA2	1	111147020	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	392568	111147020	138103601	79	69008											
KCNA3	3738	broad.mit.edu	37	chr1	111216580	111216580	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagctggaggctcctgcgcgGgaccccgacgtgctgttgcc	5	7	15	14	4	0	0	0	0	0	0	1	3	1	2	4	3	4	4	4	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:111216580G>A	ENST00000369769.2	-	1	1075	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	284						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCTGCGCGGGACCCCGACG	0.627													11	54					0	0	0	0	A	111216580	G	A	111216580	2	1	364	1	0	0	0	0	0	0	0	1	8057	1219	43	4		4	KCNA3	1	111216580	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	69560	111216580	138034041	80	69009											
CHIA	27159	broad.mit.edu	37	chr1	111861776	111861776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaaaatggagccactcaggGatgggatgcccctcaggaag	13	5	14	9	0	2	0	2	0	0	0	2	5	2	4	3	4	2	0	3	4	3	0	rs139812869	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:111861776G>A	ENST00000369740.1	+	10	1053	c.950G>A	c.(949-951)gGa>gAa	p.G317E	CHIA_ENST00000483391.1_Missense_Mutation_p.G156E|CHIA_ENST00000451398.2_Missense_Mutation_p.G156E|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000353665.6_Missense_Mutation_p.G156E|CHIA_ENST00000430615.1_Missense_Mutation_p.G209E|CHIA_ENST00000343320.6_Missense_Mutation_p.G317E	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	317					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GCCACTCAGGGATGGGATGCC	0.408													10	42					0	0	0	0	A	111861776	G	A	111861776	3	1	364	1	0	0	0	0	1	0	0	0	3371	1174	41	2	984	2	CHIA	1	111861776	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	645196	111861776	137388845	81	69010											
MOV10	4343	broad.mit.edu	37	chr1	113239079	113239079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttggtctcggcccagtttcCcattgatcacttcacacaca	8	12	7	14	1	3	1	2	1	1	0	5	1	4	1	2	2	0	2	2	2	0	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:113239079C>T	ENST00000369644.1	+	14	2765	c.1736C>T	c.(1735-1737)cCc>cTc	p.P579L	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.P635L|MOV10_ENST00000357443.2_Missense_Mutation_p.P635L|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.P635L			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	635					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GCCCAGTTTCCCATTGATCAC	0.572													22	79					0	0	0	0	T	113239079	C	T	113239079	3	4	364	1	0	0	0	0	1	0	0	0	9788	623	22	4	1950	4	MOV10	1	113239079	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1377303	113239079	136011542	82	69011											
CSDE1	7812	broad.mit.edu	37	chr1	115280598	115280598	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaacttgtccattcattcGttcttcagggaggatttctt	8	17	7	9	1	4	0	2	0	2	0	6	2	5	2	1	2	1	1	1	2	1	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:115280598G>C	ENST00000438362.2	-	4	811	c.433C>G	c.(433-435)Cga>Gga	p.R145G	CSDE1_ENST00000530886.1_5'UTR|CSDE1_ENST00000339438.6_Missense_Mutation_p.R99G|CSDE1_ENST00000261443.5_Missense_Mutation_p.R99G|CSDE1_ENST00000534699.1_Missense_Mutation_p.R99G|CSDE1_ENST00000358528.4_Missense_Mutation_p.R99G|CSDE1_ENST00000369530.1_Missense_Mutation_p.R145G	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	99	CSD 2; truncated.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		CCATTCATTCGTTCTTCAGGG	0.398													11	54					0	0	0	0	C	115280598	G	C	115280598	3	2	364	1	0	0	0	0	1	0	0	0	3961	1153	40	3	2169	3	CSDE1	1	115280598	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2041519	115280598	133970023	83	69012											
SYCP1	6847	broad.mit.edu	37	chr1	115456614	115456614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaataacaaaaagcaagaaGaaaggatgttgaaacaaata	25	5	8	3	0	0	4	0	1	0	3	0	5	0	5	0	1	3	2	0	1	10	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:115456614G>A	ENST00000369522.3	+	20	1906	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E556K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	556					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		AAAGCAAGAAGAAAGGATGTT	0.244													9	28					0	0	0	0	A	115456614	G	A	115456614	3	1	364	1	0	0	0	0	1	0	0	0	15522	943	33	2	1740	2	SYCP1	1	115456614	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	176016	115456614	133794007	84	69013											
IGSF3	3321	broad.mit.edu	37	chr1	117122029	117122029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacttgtatctagaacacGgatgccgatgggggctgact	9	10	12	10	2	2	2	1	1	1	1	2	4	2	3	1	3	2	2	1	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:117122029G>C	ENST00000369486.3	-	10	4084	c.3319C>G	c.(3319-3321)Cgt>Ggt	p.R1107G	IGSF3_ENST00000318837.6_Missense_Mutation_p.R1127G|IGSF3_ENST00000369483.1_Missense_Mutation_p.R1127G	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1107						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCTAGAACACGGATGCCGATG	0.507													14	61					0	0	0	0	C	117122029	G	C	117122029	3	2	364	1	0	0	0	0	1	0	0	0	7654	1116	39	3	273	3	IGSF3	1	117122029	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1665415	117122029	132128592	85	69014											
VTCN1	79679	broad.mit.edu	37	chr1	117699529	117699529	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcgacagtagtgactgTgatggagtgtctccctgcag	8	10	15	8	1	1	3	0	3	1	0	2	5	1	4	1	2	1	2	1	2	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:117699529T>A	ENST00000369458.3	-	3	190	c.112A>T	c.(112-114)Aca>Tca	p.T38S	VTCN1_ENST00000359008.4_Missense_Mutation_p.T41S|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000539893.1_5'UTR	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	38	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		GTAGTGACTGTGATGGAGTGT	0.473													15	38					0	0	0	0	A	117699529	T	A	117699529	3	1	364	1	0	0	0	0	1	0	0	0	17330	1696	59	5	748	5	VTCN1	1	117699529	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	577500	117699529	131551092	86	69015											
TBX15	6913	broad.mit.edu	37	chr1	119427862	119427862	+	Silent	SNP	G	G	A																															tgaggcatgaaggtttcagaGggctgagtggctgaagtggt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:119427862G>A	ENST00000369429.3	-	8	1311	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P	TBX15_ENST00000207157.3_Silent_p.P328P			Q96SF7	TBX15_HUMAN	T-box 15	434						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGGTTTCAGAGGGCTGAGTGG	0.572													10	32					0	0	0	0	A	119427862	G	A	119427862	2	1	364	1	0	0	0	0	0	0	0	1	15746	987	35	4		4	TBX15	1	119427862	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1728333	119427862	129822759	87	69016	845	2									
TBX15	6913	broad.mit.edu	37	chr1	119427863	119427863	+	Missense_Mutation	SNP	G	G	A																															gaggcatgaaggtttcagagGgctgagtggctgaagtggtg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:119427863G>A	ENST00000369429.3	-	8	1310	c.1301C>T	c.(1300-1302)cCc>cTc	p.P434L	TBX15_ENST00000207157.3_Missense_Mutation_p.P328L			Q96SF7	TBX15_HUMAN	T-box 15	434						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGTTTCAGAGGGCTGAGTGGC	0.572													10	33					0	0	0	0	A	119427863	G	A	119427863	3	1	364	1	0	0	0	0	1	0	0	0	15746	1232	43	4	511	4	TBX15	1	119427863	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	119427863	129822758	88	69017	845	2									
TBX15	6913	broad.mit.edu	37	chr1	119466122	119466122	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaagttgaacgttttcacCccatccccaacaggaacagg	13	7	9	12	1	1	1	1	1	0	0	2	3	2	3	4	3	3	2	4	3	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:119466122C>T	ENST00000369429.3	-	5	807	c.798G>A	c.(796-798)ggG>ggA	p.G266G	TBX15_ENST00000207157.3_Silent_p.G160G			Q96SF7	TBX15_HUMAN	T-box 15	266						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ACGTTTTCACCCCATCCCCAA	0.488													14	38					0	0	0	0	T	119466122	C	T	119466122	2	4	364	1	0	0	0	0	0	0	0	1	15746	610	22	4		4	TBX15	1	119466122	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	38259	119466122	129784499	89	69018											
WARS2	10352	broad.mit.edu	37	chr1	119575733	119575733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagcagtgttcatgcccGcgctgcggcgcaccacttcc	6	7	12	16	5	1	0	1	0	0	0	2	1	2	0	3	1	4	4	3	1	0	2	rs140469836		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:119575733G>A	ENST00000235521.4	-	6	910	c.884C>T	c.(883-885)gCg>gTg	p.A295V	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.A201V	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	295					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GTTCATGCCCGCGCTGCGGCG	0.597													16	48					0	0	0	0	A	119575733	G	A	119575733	3	1	364	1	0	0	0	0	1	0	0	0	17346	1087	38	1	202	1	WARS2	1	119575733	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	109611	119575733	129674888	90	69019											
PPIAL4G	644591	broad.mit.edu	37	chr1	143767641	143767641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgtcaccggtgccattagGgtgtgtgaagtcaccaccct	7	11	11	12	1	2	1	2	1	0	0	2	1	2	1	4	2	1	0	4	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:143767641G>A	ENST00000419275.1	-	1	240	c.208C>T	c.(208-210)Cct>Tct	p.P70S		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	70	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						GTGCCATTAGGGTGTGTGAAG	0.468													38	253					0	0	0	0	A	143767641	G	A	143767641	3	1	364	1	0	0	0	0	1	0	0	0	12394	1232	43	4	290	4	PPIAL4G	1	143767641	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	24191908	143767641	105482980	91	69020											
PDE4DIP	9659	broad.mit.edu	37	chr1	145075855	145075855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcaggacccgctgtctgtgCccttcatggatttcctgggc	5	11	12	13	1	2	0	1	0	1	0	3	2	3	2	3	3	2	2	3	3	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:145075855C>T	ENST00000369359.4	-	1	46	c.8G>A	c.(7-9)gGc>gAc	p.G3D	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G3D|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.G3D|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.G3D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGTCTGTGCCCTTCATGGA	0.672			T	PDGFRB	MPD								5	58					0	0	0	0	T	145075855	C	T	145075855	3	4	364	1	0	0	0	0	1	0	0	0	11714	739	26	4	8804	4	PDE4DIP	1	145075855	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1308214	145075855	104174766	92	69021											
ACP6	51205	broad.mit.edu	37	chr1	147131114	147131114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcccagccagcaaacaacGggtggactccagattccgaa	14	4	10	13	2	0	1	0	0	0	1	2	3	2	2	4	2	5	1	4	2	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:147131114G>A	ENST00000369238.5	-	4	967	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	ACP6_ENST00000392988.2_Missense_Mutation_p.R174C	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	174					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AGCAAACAACGGGTGGACTCC	0.423													24	112					0	0	0	0	A	147131114	G	A	147131114	3	1	364	1	0	0	0	0	1	0	0	0	165	1116	39	1	794	1	ACP6	1	147131114	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2055259	147131114	102119507	93	69022											
PRPF3	9129	broad.mit.edu	37	chr1	150300844	150300844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaaagaagcgacgaataccCcgttttgaggaggtggaaga	14	7	14	6	3	0	3	0	1	0	2	0	7	0	5	2	3	2	2	2	3	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:150300844C>T	ENST00000324862.6	+	4	507	c.342C>T	c.(340-342)ccC>ccT	p.P114P	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Intron	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	114					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GACGAATACCCCGTTTTGAGG	0.498													25	134					0	0	0	0	T	150300844	C	T	150300844	2	4	364	1	0	0	0	0	0	0	0	1	12645	610	22	4		4	PRPF3	1	150300844	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3169730	150300844	98949777	94	69023											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150527914	150527914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtcccttagtccagggctCccagcgctgtgaactgaact	7	10	10	14	1	0	2	0	2	0	0	3	2	3	2	3	1	3	2	3	1	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:150527914C>T	ENST00000271643.4	+	8	1480	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.S415F|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.S415F|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S438F	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	415					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTCCAGGGCTCCCAGCGCTGT	0.627													9	7					0	0	0	0	T	150527914	C	T	150527914	3	4	364	1	0	0	0	0	1	0	0	0	277	855	30	2	1266	2	ADAMTSL4	1	150527914	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	227070	150527914	98722707	95	69024											
TNFAIP8L2	79626	broad.mit.edu	37	chr1	151131544	151131544	+	Missense_Mutation	SNP	G	G	A																															tggcctgctgaccgagtgccGggatgtgctgctagagttgg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:151131544G>A	ENST00000368910.3	+	2	497	c.371G>A	c.(370-372)cGg>cAg	p.R124Q		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	124					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCGAGTGCCGGGATGTGCTG	0.602													11	38					0	0	0	0	A	151131544	G	A	151131544	3	1	364	1	0	0	0	0	1	0	0	0	16372	1116	39	1	373	1	TNFAIP8L2	1	151131544	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	603630	151131544	98119077	96	69025	846	2									
TNFAIP8L2	79626	broad.mit.edu	37	chr1	151131545	151131545	+	Silent	SNP	G	G	A																															ggcctgctgaccgagtgccgGgatgtgctgctagagttggt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:151131545G>A	ENST00000368910.3	+	2	498	c.372G>A	c.(370-372)cgG>cgA	p.R124R		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	124					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCGAGTGCCGGGATGTGCTGC	0.602													11	38					0	0	0	0	A	151131545	G	A	151131545	2	1	364	1	0	0	0	0	0	0	0	1	16372	1219	43	4		4	TNFAIP8L2	1	151131545	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	151131545	98119076	97	69026	846	2									
RFX5	5993	broad.mit.edu	37	chr1	151316355	151316355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttacttctgggcccatttCtggctgaagtggggaaggac	7	11	15	8	0	2	1	0	1	2	0	2	3	2	3	1	6	1	2	1	6	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:151316355C>T	ENST00000290524.4	-	9	737	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	RFX5_ENST00000452671.2_Missense_Mutation_p.E187K|RFX5_ENST00000452513.2_Missense_Mutation_p.E147K|RFX5_ENST00000368870.2_Missense_Mutation_p.E187K	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	187						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCCCATTTCTGGCTGAAGT	0.532													10	41					0	0	0	0	T	151316355	C	T	151316355	3	4	364	1	0	0	0	0	1	0	0	0	13348	922	32	2	1303	2	RFX5	1	151316355	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	184810	151316355	97934266	98	69027											
RORC	6097	broad.mit.edu	37	chr1	151785525	151785525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagatggagctgatgagctCgctgcagcctgatggagtgg	10	8	16	7	1	0	4	0	3	0	1	1	6	0	6	1	3	4	4	1	3	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:151785525C>T	ENST00000356728.6	-	8	1274	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	RORC_ENST00000392697.3_Missense_Mutation_p.E449K|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000318247.6_Missense_Mutation_p.E395K	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	395	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGATGAGCTCGCTGCAGCCT	0.532													4	25					0	0	0	0	T	151785525	C	T	151785525	3	4	364	1	0	0	0	0	1	0	0	0	13615	893	31	1	385	1	RORC	1	151785525	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	469170	151785525	97465096	99	69028											
TCHHL1	126637	broad.mit.edu	37	chr1	152058789	152058789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctgttccttcaagttcagGgtgagtctgatctcctcctt	5	16	9	11	0	4	2	2	2	2	0	7	2	6	2	3	1	1	3	3	1	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152058789G>A	ENST00000368806.1	-	3	1433	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	457							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCAAGTTCAGGGTGAGTCTGA	0.448													93	156					0	0	0	0	A	152058789	G	A	152058789	3	1	364	1	0	0	0	0	1	0	0	0	15795	1232	43	4	1349	4	TCHHL1	1	152058789	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	273264	152058789	97191832	100	69029											
TCHHL1	126637	broad.mit.edu	37	chr1	152059445	152059445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacactttgctctctggctGgttcatctccttcctgggag	6	14	9	12	0	3	0	1	0	2	0	6	1	4	1	2	3	2	3	2	3	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152059445G>A	ENST00000368806.1	-	3	777	c.713C>T	c.(712-714)cCa>cTa	p.P238L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	238							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCTCTGGCTGGTTCATCTCC	0.453													30	123					0	0	0	0	A	152059445	G	A	152059445	3	1	364	1	0	0	0	0	1	0	0	0	15795	1348	47	4	2005	4	TCHHL1	1	152059445	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	656	152059445	97191176	101	69030											
HRNR	388697	broad.mit.edu	37	chr1	152187529	152187529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggctggaggagtgcccCgaaccggacccatgtcggcc	6	5	15	15	4	0	0	0	0	0	0	1	4	0	3	6	5	2	1	6	5	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152187529C>T	ENST00000368801.2	-	3	6651	c.6576G>A	c.(6574-6576)tcG>tcA	p.S2192S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2192					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGAGTGCCCCGAACCGGACC	0.637													26	454					0	0	0	0	T	152187529	C	T	152187529	2	4	364	1	0	0	0	0	0	0	0	1	7409	639	23	1		1	HRNR	1	152187529	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	128084	152187529	97063092	102	69031											
HRNR	388697	broad.mit.edu	37	chr1	152188145	152188145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcggtgacctaagccagaaGagtgaccggagccagactca	12	5	12	12	2	1	5	1	2	0	3	2	6	1	6	4	2	2	0	4	2	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152188145G>A	ENST00000368801.2	-	3	6035	c.5960C>T	c.(5959-5961)tCt>tTt	p.S1987F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1987					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAAGCCAGAAGAGTGACCGGA	0.577													27	1081					0	0	0	0	A	152188145	G	A	152188145	3	1	364	1	0	0	0	0	1	0	0	0	7409	942	33	2	2596	2	HRNR	1	152188145	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	616	152188145	97062476	103	69032											
HRNR	388697	broad.mit.edu	37	chr1	152188177	152188177	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagactcatatgggccacgGctggaagaccaccctgagcc	10	5	11	15	1	1	3	1	1	0	2	1	4	1	4	5	3	1	1	5	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152188177G>A	ENST00000368801.2	-	3	6003	c.5928C>T	c.(5926-5928)agC>agT	p.S1976S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1976					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGCCACGGCTGGAAGACC	0.602													23	1203					0	0	0	0	A	152188177	G	A	152188177	2	1	364	1	0	0	0	0	0	0	0	1	7409	1194	42	4		4	HRNR	1	152188177	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	32	152188177	97062444	104	69033											
HRNR	388697	broad.mit.edu	37	chr1	152191169	152191169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgaccatagctggaagacGaacctgagctagatccatgt	12	8	11	10	1	0	4	0	2	0	2	1	6	1	5	3	1	3	3	3	1	4	2	rs144088764		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152191169G>A	ENST00000368801.2	-	3	3011	c.2936C>T	c.(2935-2937)tCg>tTg	p.S979L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	979					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGAAGACGAACCTGAGCT	0.577													62	252					0	0	0	0	A	152191169	G	A	152191169	3	1	364	1	0	0	0	0	1	0	0	0	7409	1059	37	1	5620	1	HRNR	1	152191169	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2992	152191169	97059452	105	69034											
FLG	2312	broad.mit.edu	37	chr1	152278924	152278924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgtggctgtgatgggacCctgagtgtccagagctatct	6	12	15	8	0	1	3	0	2	1	1	2	4	2	4	2	3	1	2	2	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152278924C>T	ENST00000368799.1	-	3	8473	c.8438G>A	c.(8437-8439)gGg>gAg	p.G2813E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2813	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGATGGGACCCTGAGTGTCC	0.572									Ichthyosis				56	466					0	0	0	0	T	152278924	C	T	152278924	3	4	364	1	0	0	0	0	1	0	0	0	5967	623	22	4	3751	4	FLG	1	152278924	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	87755	152278924	96971697	106	69035											
FLG2	388698	broad.mit.edu	37	chr1	152326846	152326846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcatgctgtgcaaagccaGaggatttacctgtgcctgac	10	10	10	11	0	1	2	1	1	0	1	1	3	1	3	3	1	5	2	3	1	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152326846G>A	ENST00000388718.5	-	3	3488	c.3416C>T	c.(3415-3417)tCt>tTt	p.S1139F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1139	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAAAGCCAGAGGATTTACC	0.537													47	221					0	0	0	0	A	152326846	G	A	152326846	3	1	364	1	0	0	0	0	1	0	0	0	5968	942	33	2	3763	2	FLG2	1	152326846	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	47922	152326846	96923775	107	69036											
LELP1	149018	broad.mit.edu	37	chr1	153177418	153177418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccctgcaccaagccctgtCctcctaaatgcccttcatcc	8	9	5	19	0	1	0	1	0	0	0	4	0	4	0	7	0	4	1	7	0	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:153177418C>T	ENST00000368747.1	+	2	345	c.235C>T	c.(235-237)Cct>Tct	p.P79S		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	79	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGCCCTGTCCTCCTAAATG	0.632													4	40					0	0	0	0	T	153177418	C	T	153177418	3	4	364	1	0	0	0	0	1	0	0	0	8771	855	30	2	237	2	LELP1	1	153177418	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	850572	153177418	96073203	108	69037											
S100A1	6271	broad.mit.edu	37	chr1	153604235	153604235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctagacgagaatggagacgGggaggtggacttccaggagt	11	6	18	6	2	0	3	0	0	0	3	1	8	1	6	1	6	0	1	1	6	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:153604235G>A	ENST00000368698.3	+	4	509	c.362G>A	c.(361-363)gGg>gAg	p.G121E	S100A1_ENST00000368696.3_3'UTR|S100A13_ENST00000368699.1_Intron|S100A1_ENST00000292169.1_Missense_Mutation_p.G68E|RP1-178F15.4_ENST00000469931.2_RNA|S100A1_ENST00000469893.1_3'UTR|RP1-178F15.5_ENST00000497086.1_RNA|RP1-178F15.4_ENST00000607839.1_RNA			P23297	S10A1_HUMAN	S100 calcium binding protein A1	68					intracellular signal transduction|regulation of heart contraction	nucleus|protein complex|sarcoplasmic reticulum	ATPase binding|calcium ion binding|protein homodimerization activity|S100 alpha binding|S100 beta binding			breast(1)|cervix(1)|lung(2)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	AATGGAGACGGGGAGGTGGAC	0.542													49	232					0	0	0	0	A	153604235	G	A	153604235	3	1	364	1	0	0	0	0	1	0	0	0	13856	1232	43	4	209	4	S100A1	1	153604235	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	426817	153604235	95646386	109	69038											
IL6R	3570	broad.mit.edu	37	chr1	154401817	154401817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcagatgggctggcatGggaaggaggctgctgctgag	8	6	18	9	0	0	2	0	1	0	1	0	4	0	4	1	5	3	6	1	5	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:154401817G>A	ENST00000368485.3	+	2	668	c.231G>A	c.(229-231)atG>atA	p.M77I	IL6R_ENST00000344086.4_Missense_Mutation_p.M77I	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	77	Ig-like C2-type.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGCTGGCATGGGAAGGAGGC	0.647													12	31					0	0	0	0	A	154401817	G	A	154401817	3	1	364	1	0	0	0	0	1	0	0	0	7755	1348	47	4	237	4	IL6R	1	154401817	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	797582	154401817	94848804	110	69039											
FLAD1	80308	broad.mit.edu	37	chr1	154962042	154962042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctgcttggcagggtcttCtttggggaaaaaggtggcag	7	11	16	7	0	2	0	0	0	2	0	2	1	2	1	1	6	2	3	1	6	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:154962042C>T	ENST00000368433.1	+	3	1467	c.1124C>T	c.(1123-1125)tCt>tTt	p.S375F	FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000292180.3_Missense_Mutation_p.S375F|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000315144.10_Missense_Mutation_p.S278F|FLAD1_ENST00000368432.1_Missense_Mutation_p.S278F|FLAD1_ENST00000295530.2_Intron			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	375					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGGGTCTTCTTTGGGGAAA	0.547													15	80					0	0	0	0	T	154962042	C	T	154962042	3	4	364	1	0	0	0	0	1	0	0	0	5965	913	32	2	1274	2	FLAD1	1	154962042	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	560225	154962042	94288579	111	69040											
CLK2	1196	broad.mit.edu	37	chr1	155236562	155236562	+	Nonsense_Mutation	SNP	G	G	A																															gaaggccatgtggcgcacttGgtggatggggtagggcaggt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155236562G>A	ENST00000368361.4	-	7	1111	c.796C>T	c.(796-798)Caa>Taa	p.Q266*	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Nonsense_Mutation_p.Q265*|CLK2_ENST00000536801.1_Nonsense_Mutation_p.Q266*|CLK2_ENST00000355560.4_Nonsense_Mutation_p.Q264*			P49760	CLK2_HUMAN	CDC-like kinase 2	266	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGCGCACTTGGTGGATGGGG	0.557								Other conserved DNA damage response genes					16	22					0	0	0	0	A	155236562	G	A	155236562	4	1	364	1	0	0	0	0	0	1	0	0	3567	1357	47	4	731	4	CLK2	1	155236562	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	274520	155236562	94014059	112	69041	847	2									
CLK2	1196	broad.mit.edu	37	chr1	155236563	155236563	+	Silent	SNP	G	G	A																															aaggccatgtggcgcacttgGtggatggggtagggcaggta																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155236563G>A	ENST00000368361.4	-	7	1110	c.795C>T	c.(793-795)caC>caT	p.H265H	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.H264H|CLK2_ENST00000536801.1_Silent_p.H265H|CLK2_ENST00000355560.4_Silent_p.H263H			P49760	CLK2_HUMAN	CDC-like kinase 2	265	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCGCACTTGGTGGATGGGGT	0.557								Other conserved DNA damage response genes					16	22					0	0	0	0	A	155236563	G	A	155236563	2	1	364	1	0	0	0	0	0	0	0	1	3567	1252	44	4		4	CLK2	1	155236563	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	155236563	94014058	113	69042	847	2									
HCN3	57657	broad.mit.edu	37	chr1	155254458	155254458	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaccatgctcagcatgatCgtaggtgccacatgctacgc	9	9	9	14	2	2	1	2	1	0	0	3	1	2	1	2	1	5	4	2	1	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155254458C>T	ENST00000368358.3	+	4	1007	c.999C>T	c.(997-999)atC>atT	p.I333I	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	333						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCAGCATGATCGTAGGTGCCA	0.597													8	27					0	0	0	0	T	155254458	C	T	155254458	2	4	364	1	0	0	0	0	0	0	0	1	7048	874	31	1		1	HCN3	1	155254458	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	17895	155254458	93996163	114	69043											
GON4L	54856	broad.mit.edu	37	chr1	155727075	155727075	+	Missense_Mutation	SNP	G	G	A																															agaaaactcatcctgcaggtGgtcgtggcccttgaggagct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155727075G>A	ENST00000437809.1	-	26	5415	c.5293C>T	c.(5293-5295)Cac>Tac	p.H1765Y	GON4L_ENST00000368331.1_Missense_Mutation_p.H1765Y|GON4L_ENST00000271883.5_Missense_Mutation_p.H1765Y			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1765	PAH 2.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCTGCAGGTGGTCGTGGCCC	0.532													14	81					0	0	0	0	A	155727075	G	A	155727075	3	1	364	1	0	0	0	0	1	0	0	0	6620	1348	47	4	1457	4	GON4L	1	155727075	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	472617	155727075	93523546	115	69044	848	2									
GON4L	54856	broad.mit.edu	37	chr1	155727076	155727076	+	Silent	SNP	G	G	A																															gaaaactcatcctgcaggtgGtcgtggcccttgaggagctg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155727076G>A	ENST00000437809.1	-	26	5414	c.5292C>T	c.(5290-5292)gaC>gaT	p.D1764D	GON4L_ENST00000368331.1_Silent_p.D1764D|GON4L_ENST00000271883.5_Silent_p.D1764D			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1764	PAH 2.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTGCAGGTGGTCGTGGCCCT	0.532													14	80					0	0	0	0	A	155727076	G	A	155727076	2	1	364	1	0	0	0	0	0	0	0	1	6620	1252	44	4		4	GON4L	1	155727076	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	155727076	93523545	116	69045	848	2									
SEMA4A	64218	broad.mit.edu	37	chr1	156145017	156145017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagtcccgaacctgttgcctCctgtctgcccccaacctgtg	5	10	9	17	1	1	0	0	0	1	0	3	2	3	0	7	0	4	1	7	0	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156145017C>T	ENST00000368285.3	+	13	1842	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	SEMA4A_ENST00000368286.2_Silent_p.L393L|SEMA4A_ENST00000368284.1_Silent_p.L393L|SEMA4A_ENST00000355014.2_Silent_p.L525L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Silent_p.L525L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	525	PSI.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCTGTTGCCTCCTGTCTGCCC	0.617													36	133					0	0	0	0	T	156145017	C	T	156145017	2	4	364	1	0	0	0	0	0	0	0	1	14118	842	30	2		2	SEMA4A	1	156145017	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	417941	156145017	93105604	117	69046											
SMG5	23381	broad.mit.edu	37	chr1	156236039	156236039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaactttgggtgggtggCggcgacggcggagacaggag	8	5	19	9	4	0	1	0	0	0	1	0	4	0	2	1	7	1	0	1	7	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156236039C>T	ENST00000361813.5	-	12	1532	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	463	Poly-Arg.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGGTGGGTGGCGGCGACGGCG	0.602													14	114					0	0	0	0	T	156236039	C	T	156236039	3	4	364	1	0	0	0	0	1	0	0	0	14884	768	27	1	1706	1	SMG5	1	156236039	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	91022	156236039	93014582	118	69047											
SMG5	23381	broad.mit.edu	37	chr1	156246880	156246880	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaggttccactgacctatGagggggtcagtgacatgggt	8	11	14	8	0	2	3	2	3	0	0	3	3	3	3	2	4	0	1	2	4	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156246880G>A	ENST00000361813.5	-	4	594	c.450C>T	c.(448-450)ctC>ctT	p.L150L	SMG5_ENST00000368267.4_Silent_p.L150L	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	150					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					ACTGACCTATGAGGGGGTCAG	0.542													13	40					0	0	0	0	A	156246880	G	A	156246880	2	1	364	1	0	0	0	0	0	0	0	1	14884	1277	45	2		2	SMG5	1	156246880	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	10841	156246880	93003741	119	69048											
RHBG	57127	broad.mit.edu	37	chr1	156348150	156348150	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggagaagagcaagcaccgCcagggctccgtctaccattc	10	6	11	14	2	1	2	0	0	1	2	3	3	2	2	4	2	3	3	4	2	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156348150C>T	ENST00000400992.2	+	4	905	c.537C>T	c.(535-537)cgC>cgT	p.R179R	RHBG_ENST00000368249.1_Silent_p.R211R|RHBG_ENST00000451864.2_Silent_p.R179R|RHBG_ENST00000255013.3_Silent_p.R142R|RHBG_ENST00000368246.2_Silent_p.R211R|RHBG_ENST00000537040.1_Intron			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	211					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCAAGCACCGCCAGGGCTCCG	0.622													15	128					0	0	0	0	T	156348150	C	T	156348150	2	4	364	1	0	0	0	0	0	0	0	1	13407	726	26	4		4	RHBG	1	156348150	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	101270	156348150	92902471	120	69049											
IQGAP3	128239	broad.mit.edu	37	chr1	156536225	156536225	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtagatcttcttcaagggaAccacggagggtgcaaaacag	13	7	12	9	2	3	1	1	0	2	1	3	3	3	3	1	3	3	2	1	3	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156536225A>G	ENST00000361170.2	-	3	249	c.239T>C	c.(238-240)gTt>gCt	p.V80A		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	80	CH.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCAAGGGAACCACGGAGGG	0.577													3	25					0	0	0	0	G	156536225	A	G	156536225	3	3	364	1	0	0	0	0	1	0	0	0	7869	43	2	5	4800	5	IQGAP3	1	156536225	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	188075	156536225	92714396	121	69050											
BCAN	63827	broad.mit.edu	37	chr1	156622557	156622557	+	Silent	SNP	G	G	A																															cgggcccctgagggtaccagGgagctggaggccccctctga																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156622557G>A	ENST00000329117.4	+	8	2151	c.1815G>A	c.(1813-1815)agG>agA	p.R605R	BCAN_ENST00000361588.5_Silent_p.R605R|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	605					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGTACCAGGGAGCTGGAGG	0.652													3	27					0	0	0	0	A	156622557	G	A	156622557	2	1	364	1	0	0	0	0	0	0	0	1	1349	1223	43	4		4	BCAN	1	156622557	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	86332	156622557	92628064	122	69051	849	2									
BCAN	63827	broad.mit.edu	37	chr1	156622558	156622558	+	Missense_Mutation	SNP	G	G	A																															gggcccctgagggtaccaggGagctggaggccccctctgaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156622558G>A	ENST00000329117.4	+	8	2152	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	BCAN_ENST00000361588.5_Missense_Mutation_p.E606K|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	606					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGTACCAGGGAGCTGGAGGC	0.652													3	27					0	0	0	0	A	156622558	G	A	156622558	3	1	364	1	0	0	0	0	1	0	0	0	1349	1175	41	2	1842	2	BCAN	1	156622558	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	156622558	92628063	123	69052	849	2									
PEAR1	375033	broad.mit.edu	37	chr1	156880483	156880483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactccttctgccacccctcGaacgggacctgctactgcct	6	9	7	19	2	1	0	0	0	1	0	3	2	2	1	6	1	5	1	6	1	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156880483G>A	ENST00000338302.3	+	16	2124	c.1899G>A	c.(1897-1899)tcG>tcA	p.S633S	PEAR1_ENST00000292357.7_Silent_p.S633S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	633	EGF-like 8.					integral to membrane				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)					GCCACCCCTCGAACGGGACCT	0.617													4	32					0	0	0	0	A	156880483	G	A	156880483	2	1	364	1	0	0	0	0	0	0	0	1	11783	1045	37	1		1	PEAR1	1	156880483	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	257925	156880483	92370138	124	69053											
ARHGEF11	9826	broad.mit.edu	37	chr1	156909465	156909465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggggtaggtgttccagaGaacagagacccatgtcttcc	9	10	13	9	0	1	2	0	0	1	2	3	4	3	2	3	3	1	2	3	3	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156909465G>A	ENST00000368194.3	-	37	5010	c.3971C>T	c.(3970-3972)tCt>tTt	p.S1324F	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S700F|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S1284F|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1284					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGTTCCAGAGAACAGAGACC	0.592													23	37					0	0	0	0	A	156909465	G	A	156909465	3	1	364	1	0	0	0	0	1	0	0	0	898	942	33	2	737	2	ARHGEF11	1	156909465	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	28982	156909465	92341156	125	69054											
FCRL4	83417	broad.mit.edu	37	chr1	157559185	157559185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattgcaagtcagagtcactCtctctcctttgaagaatgtg	10	13	8	10	0	4	3	2	1	2	2	6	3	4	3	1	0	1	1	1	0	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:157559185C>T	ENST00000271532.1	-	3	251	c.116G>A	c.(115-117)aGa>aAa	p.R39K		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	39	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CAGAGTCACTCTCTCTCCTTT	0.483													8	35					0	0	0	0	T	157559185	C	T	157559185	3	4	364	1	0	0	0	0	1	0	0	0	5842	913	32	2	1471	2	FCRL4	1	157559185	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	649720	157559185	91691436	126	69055											
OR10T2	128360	broad.mit.edu	37	chr1	158368957	158368957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaggaaaaagaacagctgGgtggcacaggccatgaagga	16	3	14	8	0	0	2	0	1	0	1	0	4	0	4	2	5	2	2	2	5	5	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:158368957G>A	ENST00000334438.1	-	1	299	c.300C>T	c.(298-300)acC>acT	p.T100T		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGAACAGCTGGGTGGCACAGG	0.493													8	47					0	0	0	0	A	158368957	G	A	158368957	2	1	364	1	0	0	0	0	0	0	0	1	10990	1219	43	4		4	OR10T2	1	158368957	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	809772	158368957	90881664	127	69056											
OR10K1	391109	broad.mit.edu	37	chr1	158436049	158436049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaaatcccttcctccgttgGaagatacaagaccttctcca	13	10	5	13	1	1	2	0	0	1	2	5	3	4	3	5	1	1	1	5	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:158436049G>A	ENST00000289451.2	+	1	778	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCTCCGTTGGAAGATACAAG	0.448													18	87					0	0	0	0	A	158436049	G	A	158436049	3	1	364	1	0	0	0	0	1	0	0	0	10984	1174	41	2	700	2	OR10K1	1	158436049	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	67092	158436049	90814572	128	69057											
OR6K6	128371	broad.mit.edu	37	chr1	158724701	158724701	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acacagttgacggccagtggGaatcagacaatggtgactga	13	7	13	8	1	1	4	1	3	0	1	1	5	1	5	1	3	0	1	1	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:158724701G>A	ENST00000368144.2	+	1	192	c.96G>A	c.(94-96)ggG>ggA	p.G32G		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CGGCCAGTGGGAATCAGACAA	0.433													26	91					0	0	0	0	A	158724701	G	A	158724701	2	1	364	1	0	0	0	0	0	0	0	1	11275	1161	41	2		2	OR6K6	1	158724701	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	288652	158724701	90525920	129	69058											
DARC	2532	broad.mit.edu	37	chr1	159176033	159176033	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatttcctggtgaggtcCaagctgttgctgttgtcaac	6	14	12	9	0	1	1	1	1	0	0	3	2	3	2	2	3	3	4	2	3	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:159176033C>T	ENST00000537147.1	+	3	1647	c.804C>T	c.(802-804)tcC>tcT	p.S268S	DARC_ENST00000368121.2_Silent_p.S270S|DARC_ENST00000368122.2_Silent_p.S268S			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	268					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGGTGAGGTCCAAGCTGTTGC	0.572													26	110					0	0	0	0	T	159176033	C	T	159176033	2	4	364	1	0	0	0	0	0	0	0	1	4273	581	21	4		4	DARC	1	159176033	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	451332	159176033	90074588	130	69059											
NHLH1	4807	broad.mit.edu	37	chr1	160340725	160340725	+	Silent	SNP	C	C	T																															agccgcgaggagcgccggcgCcggcgccgcgccacagccaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:160340725C>T	ENST00000302101.5	+	2	650	c.204C>T	c.(202-204)cgC>cgT	p.R68R		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	68	Poly-Arg.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			Agcgccggcgccggcgccgcg	0.746													7	10					0	0	0	0	T	160340725	C	T	160340725	2	4	364	1	0	0	0	0	0	0	0	1	10473	726	26	4		4	NHLH1	1	160340725	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1164692	160340725	88909896	131	69060	850	2									
NHLH1	4807	broad.mit.edu	37	chr1	160340726	160340726	+	Missense_Mutation	SNP	C	C	T																															gccgcgaggagcgccggcgcCggcgccgcgccacagccaag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:160340726C>T	ENST00000302101.5	+	2	651	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	69	Poly-Arg.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			gcgccggcgccggcgccgcgc	0.741													7	10					0	0	0	0	T	160340726	C	T	160340726	3	4	364	1	0	0	0	0	1	0	0	0	10473	643	23	1	207	1	NHLH1	1	160340726	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	160340726	88909895	132	69061	850	2									
ITLN1	55600	broad.mit.edu	37	chr1	160849204	160849204	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaatcccgcagtgaattccCctgaaaacaagaggcagaaa	17	5	8	11	1	0	4	0	2	0	2	2	4	2	4	3	1	1	2	3	1	6	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:160849204C>T	ENST00000326245.3	-	7	801	c.685_splice	c.e7-1	p.R229_splice	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	229	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGTGAATTCCCCTGAAAACAA	0.493													9	40					0	0	0	0	T	160849204	C	T	160849204	5	4	364	1	0	0	0	0	0	0	1	0	7963	637	22	4	263	4	ITLN1	1	160849204	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	508478	160849204	88401417	133	69062											
ARHGAP30	257106	broad.mit.edu	37	chr1	161018122	161018122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcccctcaggctccatctCctctggctgaggtggctgtg	3	11	12	15	0	3	1	1	1	2	0	5	1	4	1	4	4	1	3	4	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:161018122C>T	ENST00000368013.3	-	12	3009	c.2689G>A	c.(2689-2691)Gag>Aag	p.E897K	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E686K|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E720K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	897	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E686K(1)|p.E897K(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGCTCCATCTCCTCTGGCTGA	0.597													7	30					0	0	0	0	T	161018122	C	T	161018122	3	4	364	1	0	0	0	0	1	0	0	0	881	864	30	2	620	2	ARHGAP30	1	161018122	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	168918	161018122	88232499	134	69063											
ADAMTS4	9507	broad.mit.edu	37	chr1	161168017	161168017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgccaccgactccggatctCcattgatggtgccagtcagg	8	9	11	13	2	2	1	1	1	1	0	4	3	3	2	5	3	2	0	5	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:161168017C>T	ENST00000367996.4	-	1	829	c.401G>A	c.(400-402)gGa>gAa	p.G134E	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.G134E	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	134					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTCCGGATCTCCATTGATGGT	0.637													14	49					0	0	0	0	T	161168017	C	T	161168017	3	4	364	1	0	0	0	0	1	0	0	0	268	855	30	2	2148	2	ADAMTS4	1	161168017	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	149895	161168017	88082604	135	69064											
SH2D1B	117157	broad.mit.edu	37	chr1	162368801	162368801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaaaaggtgaaccaccatcCcctgatttggtttttcaaat	12	14	6	9	0	1	2	1	2	0	0	2	2	2	2	4	2	1	1	4	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:162368801C>T	ENST00000367929.2	-	3	384	c.275G>A	c.(274-276)gGg>gAg	p.G92E	SH2D1B_ENST00000359567.3_Intron	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	92	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AACCACCATCCCCTGATTTGG	0.398													9	62					0	0	0	0	T	162368801	C	T	162368801	3	4	364	1	0	0	0	0	1	0	0	0	14318	623	22	4	131	4	SH2D1B	1	162368801	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1200784	162368801	86881820	136	69065											
FAM78B	149297	broad.mit.edu	37	chr1	166039968	166039968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgatggcttttactctcCcttccctcaagtcaggcagt	7	13	7	14	0	3	1	2	1	1	0	5	1	4	1	2	2	1	2	2	2	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:166039968C>T	ENST00000338353.3	-	3	885	c.296G>A	c.(295-297)gGg>gAg	p.G99E	FAM78B_ENST00000354422.3_Missense_Mutation_p.G99E			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	99										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TTTTACTCTCCCTTCCCTCAA	0.507													10	44					0	0	0	0	T	166039968	C	T	166039968	3	4	364	1	0	0	0	0	1	0	0	0	5673	623	22	4	493	4	FAM78B	1	166039968	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3671167	166039968	83210653	137	69066											
F5	2153	broad.mit.edu	37	chr1	169511036	169511036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaattctgattatggtcagGaagtgaggctatccagccaa	12	10	12	7	0	2	2	1	2	1	0	3	4	3	4	2	4	1	1	2	4	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:169511036G>A	ENST00000367796.3	-	13	3508	c.3307C>T	c.(3307-3309)Cct>Tct	p.P1103S	F5_ENST00000367797.3_Missense_Mutation_p.P1098S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1098	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTATGGTCAGGAAGTGAGGCT	0.458													28	106					0	0	0	0	A	169511036	G	A	169511036	3	1	364	1	0	0	0	0	1	0	0	0	5386	1174	41	2	3434	2	F5	1	169511036	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3471068	169511036	79739585	138	69067											
SELP	6403	broad.mit.edu	37	chr1	169578891	169578891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggagagcaatccatgcttCcgtggacaggactctccagc	10	8	11	12	1	1	1	0	0	1	1	4	4	3	3	3	3	3	2	3	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:169578891C>T	ENST00000263686.6	-	8	1221	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	SELP_ENST00000367793.2_Missense_Mutation_p.G333E|SELP_ENST00000367794.2_Missense_Mutation_p.G333E|SELP_ENST00000367792.2_Missense_Mutation_p.G333E|SELP_ENST00000458599.2_Missense_Mutation_p.G333E|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.G333E|SELP_ENST00000367786.2_Missense_Mutation_p.G333E	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	395	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATCCATGCTTCCGTGGACAGG	0.488													4	34					0	0	0	0	T	169578891	C	T	169578891	3	4	364	1	0	0	0	0	1	0	0	0	14106	855	30	2	1344	2	SELP	1	169578891	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	67855	169578891	79671730	139	69068											
FMO3	2328	broad.mit.edu	37	chr1	171083464	171083464	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggctgccattcccacagTtgacctccagtcccgctggg	5	9	12	15	1	0	1	0	1	0	0	3	1	3	1	5	3	1	3	5	3	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:171083464T>C	ENST00000367755.4	+	7	1256	c.1145T>C	c.(1144-1146)gTt>gCt	p.V382A	FMO3_ENST00000538429.1_Missense_Mutation_p.V319A|FMO3_ENST00000392085.2_Missense_Mutation_p.V382A|FMO3_ENST00000542847.1_Missense_Mutation_p.V362A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	382					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTCCCACAGTTGACCTCCAG	0.453													20	23					0	0	0	0	C	171083464	T	C	171083464	3	2	364	1	0	0	0	0	1	0	0	0	6001	1725	60	5	1167	5	FMO3	1	171083464	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1504573	171083464	78167157	140	69069											
FMO2	2327	broad.mit.edu	37	chr1	171173050	171173050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggtcatgagccgtatctCtgaagatggctatccttggg	7	12	13	9	1	2	3	1	2	1	1	4	3	3	3	2	3	1	2	2	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:171173050C>T	ENST00000441535.1	+	6	791	c.674C>T	c.(673-675)tCt>tTt	p.S225F	RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.S225F|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	225					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCCGTATCTCTGAAGATGGC	0.473													8	30					0	0	0	0	T	171173050	C	T	171173050	3	4	364	1	0	0	0	0	1	0	0	0	6000	913	32	2	692	2	FMO2	1	171173050	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	89586	171173050	78077571	141	69070											
TNR	7143	broad.mit.edu	37	chr1	175306677	175306677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacttacaatccagccgcccCcgtcggtggtcatatcacag	9	9	8	15	3	2	0	2	0	0	0	4	0	3	0	4	2	3	0	4	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:175306677C>T	ENST00000367674.1	-	19	4229	c.3521G>A	c.(3520-3522)gGg>gAg	p.G1174E	TNR_ENST00000263525.2_Missense_Mutation_p.G1174E	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1174	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCAGCCGCCCCCGTCGGTGGT	0.502													19	34					0	0	0	0	T	175306677	C	T	175306677	3	4	364	1	0	0	0	0	1	0	0	0	16432	623	22	4	575	4	TNR	1	175306677	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4133627	175306677	73943944	142	69071											
ASTN1	460	broad.mit.edu	37	chr1	176863845	176863845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcccttgctgtggcactcCatgcggactccagccgccat	5	9	10	17	3	0	0	0	0	0	0	3	1	3	1	5	2	3	2	5	2	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:176863845C>T	ENST00000367654.2	-	17	2830	c.2817G>A	c.(2815-2817)atG>atA	p.M939I	ASTN1_ENST00000367657.3_Missense_Mutation_p.M931I|ASTN1_ENST00000424564.2_Missense_Mutation_p.M931I|ASTN1_ENST00000361833.2_Missense_Mutation_p.M931I			O14525	ASTN1_HUMAN	astrotactin 1	939					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						TGTGGCACTCCATGCGGACTC	0.612													13	76					0	0	0	0	T	176863845	C	T	176863845	3	4	364	1	0	0	0	0	1	0	0	0	1068	594	21	4	1123	4	ASTN1	1	176863845	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1557168	176863845	72386776	143	69072											
ASTN1	460	broad.mit.edu	37	chr1	176927501	176927501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctccacagcatcctcCatcacagtcatgtccgtctt	8	11	5	17	1	3	1	2	1	1	0	7	1	7	1	5	0	1	1	5	0	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:176927501C>T	ENST00000367654.2	-	10	1753	c.1740G>A	c.(1738-1740)atG>atA	p.M580I	ASTN1_ENST00000367657.3_Missense_Mutation_p.M572I|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.M572I|ASTN1_ENST00000361833.2_Missense_Mutation_p.M572I			O14525	ASTN1_HUMAN	astrotactin 1	580					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						CAGCATCCTCCATCACAGTCA	0.537													32	49					0	0	0	0	T	176927501	C	T	176927501	3	4	364	1	0	0	0	0	1	0	0	0	1068	594	21	4	2228	4	ASTN1	1	176927501	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	63656	176927501	72323120	144	69073											
SEC16B	89866	broad.mit.edu	37	chr1	177909754	177909754	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcccactcacctccagctgCctccgaagttgcgctagcca	8	8	7	18	2	1	0	1	0	0	0	4	1	4	0	6	0	4	3	6	0	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:177909754C>T	ENST00000308284.6	-	17	2207	c.2118G>A	c.(2116-2118)agG>agA	p.R706R	RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	706					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CCTCCAGCTGCCTCCGAAGTT	0.557													7	24					0	0	0	0	T	177909754	C	T	177909754	2	4	364	1	0	0	0	0	0	0	0	1	14074	738	26	4		4	SEC16B	1	177909754	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	982253	177909754	71340867	145	69074											
CACNA1E	777	broad.mit.edu	37	chr1	181741312	181741312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaacgagaacgaacgctgcgGcaccgatctggcctacgtgt	10	6	13	12	6	1	1	0	0	1	1	1	5	1	1	2	2	5	2	2	2	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:181741312G>A	ENST00000526775.1	+	36	5192	c.5027G>A	c.(5026-5028)gGc>gAc	p.G1676D	CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1695D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1302D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1627D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1695D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1646D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1676D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1695					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAACGCTGCGGCACCGATCTG	0.557													61	100					0	0	0	0	A	181741312	G	A	181741312	3	1	364	1	0	0	0	0	1	0	0	0	2567	1203	42	4	5230	4	CACNA1E	1	181741312	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3831558	181741312	67509309	146	69075											
DHX9	1660	broad.mit.edu	37	chr1	182856371	182856371	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggtggcagcgccaactcCtttcgggcaggatatggtgc	7	10	14	10	2	0	0	0	0	0	0	2	1	1	1	2	5	3	2	2	5	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:182856371C>A	ENST00000367549.3	+	28	3725	c.3615C>A	c.(3613-3615)tcC>tcA	p.S1205S	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1205	NTD.			NSFRAGYG -> TPSGRIC (in Ref. 1; AAB48855).	CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCGCCAACTCCTTTCGGGCAG	0.557													22	97					3.8784e-16	4.00872e-16	1	0	A	182856371	C	A	182856371	2	1	364	1	0	0	0	0	0	0	0	1	4553	668	24	4		4	DHX9	1	182856371	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1115059	182856371	66394250	147	69076											
HMCN1	83872	broad.mit.edu	37	chr1	186092317	186092317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catggcagccaatgtagcagGatcaagcagcacaagcacca	15	4	10	12	0	1	0	1	0	0	0	1	1	1	1	2	2	5	6	2	2	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:186092317G>A	ENST00000271588.4	+	81	12693	c.12464G>A	c.(12463-12465)gGa>gAa	p.G4155E	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4155E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4155	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATGTAGCAGGATCAAGCAGC	0.502													7	26					0	0	0	0	A	186092317	G	A	186092317	3	1	364	1	0	0	0	0	1	0	0	0	7270	1174	41	2	12786	2	HMCN1	1	186092317	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3235946	186092317	63158304	148	69077											
GLRX2	51022	broad.mit.edu	37	chr1	193065760	193065760	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattagtataaacatcactGaaattctttcctcttacttt	12	19	2	8	0	3	1	1	1	2	0	4	1	4	1	1	0	2	1	1	0	7	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:193065760G>A	ENST00000367440.3	-	4	968	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	GLRX2_ENST00000367439.3_Nonsense_Mutation_p.Q164*	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	164					apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	AAACATCACTGAAATTCTTTC	0.323													12	9					0	0	0	0	A	193065760	G	A	193065760	4	1	364	1	0	0	0	0	0	1	0	0	6511	1299	45	2	8	2	GLRX2	1	193065760	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6973443	193065760	56184861	149	69078											
KCNT2	343450	broad.mit.edu	37	chr1	196438186	196438186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggtattcgtaaaatctgttCccagatgtttcccttccaag	9	14	8	10	1	1	1	0	0	1	1	5	1	4	1	3	1	0	4	3	1	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:196438186C>T	ENST00000367433.5	-	6	498	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	KCNT2_ENST00000367431.4_Missense_Mutation_p.E133K|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.E133K			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	133						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAATCTGTTCCCAGATGTTT	0.338													4	13					0	0	0	0	T	196438186	C	T	196438186	3	4	364	1	0	0	0	0	1	0	0	0	8145	864	30	2	3102	2	KCNT2	1	196438186	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3372426	196438186	52812435	150	69079											
CFHR1	3078	broad.mit.edu	37	chr1	196796106	196796106	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtgtagaacggggctGgtccacccctcccaaatgca	9	9	10	13	1	1	1	1	0	0	1	3	1	3	1	4	3	2	3	4	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:196796106G>A	ENST00000320493.5	+	3	489	c.401G>A	c.(400-402)tGg>tAg	p.W134*	CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Nonsense_Mutation_p.W134*	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	134	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GAACGGGGCTGGTCCACCCCT	0.388													28	68					0	0	0	0	A	196796106	G	A	196796106	4	1	364	1	0	0	0	0	0	1	0	0	3313	1357	47	4	411	4	CFHR1	1	196796106	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	357920	196796106	52454515	151	69080											
ZBTB41	360023	broad.mit.edu	37	chr1	197160945	197160945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgtgaacagttaggttaGactttgttgaatagcgctgg	9	15	12	5	1	1	3	0	2	1	1	1	3	1	3	0	2	2	4	0	2	5	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:197160945G>C	ENST00000367405.4	-	2	1273	c.1205C>G	c.(1204-1206)tCt>tGt	p.S402C	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGTTAGGTTAGACTTTGTTGA	0.383													5	27					0	0	0	0	C	197160945	G	C	197160945	3	2	364	1	0	0	0	0	1	0	0	0	17638	942	33	2	1560	2	ZBTB41	1	197160945	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	364839	197160945	52089676	152	69081											
CRB1	23418	broad.mit.edu	37	chr1	197297819	197297819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtgaaactaccattggttCctgtggcaagaactcctgcc	9	11	9	12	0	0	2	0	1	0	1	2	2	2	2	4	2	4	2	4	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:197297819C>T	ENST00000367400.3	+	2	473	c.338C>T	c.(337-339)tCc>tTc	p.S113F	CRB1_ENST00000538660.1_Missense_Mutation_p.S113F|CRB1_ENST00000367399.2_Missense_Mutation_p.S113F|CRB1_ENST00000535699.1_Missense_Mutation_p.S44F	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	113	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACCATTGGTTCCTGTGGCAAG	0.498													17	28					0	0	0	0	T	197297819	C	T	197297819	3	4	364	1	0	0	0	0	1	0	0	0	3878	855	30	2	344	2	CRB1	1	197297819	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	136874	197297819	51952802	153	69082											
CRB1	23418	broad.mit.edu	37	chr1	197404489	197404489	+	Missense_Mutation	SNP	C	C	G																															gctcttatcattgctcctgtCccttgggatggtcagggaaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:197404489C>G	ENST00000367397.1	+	5	2497	c.1639C>G	c.(1639-1641)Ccc>Gcc	p.P547A	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.P647A|CRB1_ENST00000367399.2_Missense_Mutation_p.P1054A|CRB1_ENST00000367400.3_Missense_Mutation_p.P1166A|CRB1_ENST00000535699.1_Missense_Mutation_p.P1142A			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1166	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGCTCCTGTCCCTTGGGATG	0.473													20	40					0	0	0	0	G	197404489	C	G	197404489	3	3	364	1	0	0	0	0	1	0	0	0	3878	855	30	2	3530	2	CRB1	1	197404489	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	106670	197404489	51846132	154	69083	851	2									
CRB1	23418	broad.mit.edu	37	chr1	197404490	197404490	+	Missense_Mutation	SNP	C	C	T																															ctcttatcattgctcctgtcCcttgggatggtcagggaaac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:197404490C>T	ENST00000367397.1	+	5	2498	c.1640C>T	c.(1639-1641)cCc>cTc	p.P547L	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.P647L|CRB1_ENST00000367399.2_Missense_Mutation_p.P1054L|CRB1_ENST00000367400.3_Missense_Mutation_p.P1166L|CRB1_ENST00000535699.1_Missense_Mutation_p.P1142L			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1166	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCTCCTGTCCCTTGGGATGG	0.478													20	41					0	0	0	0	T	197404490	C	T	197404490	3	4	364	1	0	0	0	0	1	0	0	0	3878	623	22	4	3531	4	CRB1	1	197404490	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	197404490	51846131	155	69084	851	2									
PTPRC	5788	broad.mit.edu	37	chr1	198671529	198671529	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgcagatgtcccaggagaGaggagtacagccagcacctt	12	7	12	10	0	0	2	0	0	0	2	1	5	1	4	3	2	4	3	3	2	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:198671529G>A	ENST00000367376.2	+	6	618	c.447G>A	c.(445-447)gaG>gaA	p.E149E	PTPRC_ENST00000442510.2_Silent_p.E151E|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	149					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCCCAGGAGAGAGGAGTACAG	0.522													24	114					0	0	0	0	A	198671529	G	A	198671529	2	1	364	1	0	0	0	0	0	0	0	1	12879	933	33	2		2	PTPRC	1	198671529	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1267039	198671529	50579092	156	69085											
IPO9	55705	broad.mit.edu	37	chr1	201821287	201821287	+	Silent	SNP	C	C	T																															cttgttgctcctgtcattctCccagagatgtataagatctt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:201821287C>T	ENST00000361565.4	+	5	639	c.570C>T	c.(568-570)ctC>ctT	p.L190L	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	190					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTGTCATTCTCCCAGAGATGT	0.418													10	43					0	0	0	0	T	201821287	C	T	201821287	2	4	364	1	0	0	0	0	0	0	0	1	7852	842	30	2		2	IPO9	1	201821287	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3149758	201821287	47429334	157	69086	852	2									
IPO9	55705	broad.mit.edu	37	chr1	201821288	201821288	+	Missense_Mutation	SNP	C	C	T																															ttgttgctcctgtcattctcCcagagatgtataagatcttc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:201821288C>T	ENST00000361565.4	+	5	640	c.571C>T	c.(571-573)Cca>Tca	p.P191S	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	191					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGTCATTCTCCCAGAGATGTA	0.423													10	40					0	0	0	0	T	201821288	C	T	201821288	3	4	364	1	0	0	0	0	1	0	0	0	7852	623	22	4	589	4	IPO9	1	201821288	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	201821288	47429333	158	69087	852	2									
LGR6	59352	broad.mit.edu	37	chr1	202245593	202245593	+	Silent	SNP	C	C	T																															gccatgaccctggccctcaaCcgcatcagccacatccccga																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:202245593C>T	ENST00000367278.3	+	5	677	c.588C>T	c.(586-588)aaC>aaT	p.N196N	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Silent_p.N144N	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	196						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGCCCTCAACCGCATCAGCC	0.637													6	23					0	0	0	0	T	202245593	C	T	202245593	2	4	364	1	0	0	0	0	0	0	0	1	8812	506	18	4		4	LGR6	1	202245593	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	424305	202245593	47005028	159	69088	853	2									
LGR6	59352	broad.mit.edu	37	chr1	202245594	202245594	+	Missense_Mutation	SNP	C	C	T																															ccatgaccctggccctcaacCgcatcagccacatccccgac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:202245594C>T	ENST00000367278.3	+	5	678	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Missense_Mutation_p.R145C	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	197						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCCCTCAACCGCATCAGCCA	0.637													5	21					0	0	0	0	T	202245594	C	T	202245594	3	4	364	1	0	0	0	0	1	0	0	0	8812	652	23	1	754	1	LGR6	1	202245594	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	202245594	47005027	160	69089	853	2									
PPFIA4	8497	broad.mit.edu	37	chr1	203024700	203024700	+	Missense_Mutation	SNP	C	C	T																															cacctctctgacggccctgtCcctggccagcgcgtccccac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:203024700C>T	ENST00000367240.2	+	15	2434	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	PPFIA4_ENST00000414050.2_Missense_Mutation_p.S364F|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S151F|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S151F|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S151F|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S635F			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	151					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACGGCCCTGTCCCTGGCCAGC	0.642													3	40					0	0	0	0	T	203024700	C	T	203024700	3	4	364	1	0	0	0	0	1	0	0	0	12383	855	30	2	462	2	PPFIA4	1	203024700	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	779106	203024700	46225921	161	69090	854	2									
PPFIA4	8497	broad.mit.edu	37	chr1	203024701	203024701	+	Silent	SNP	C	C	T																															acctctctgacggccctgtcCctggccagcgcgtccccacc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:203024701C>T	ENST00000367240.2	+	15	2435	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S	PPFIA4_ENST00000414050.2_Silent_p.S364S|PPFIA4_ENST00000272198.6_Silent_p.S151S|PPFIA4_ENST00000599966.1_Silent_p.S151S|PPFIA4_ENST00000295706.4_Silent_p.S151S|PPFIA4_ENST00000447715.2_Silent_p.S635S			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	151					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CGGCCCTGTCCCTGGCCAGCG	0.642													3	42					0	0	0	0	T	203024701	C	T	203024701	2	4	364	1	0	0	0	0	0	0	0	1	12383	610	22	4		4	PPFIA4	1	203024701	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	203024701	46225920	162	69091	854	2									
CHI3L1	1116	broad.mit.edu	37	chr1	203149598	203149598	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccccaactccattacCtcatagtaggcaagggtccc	9	10	6	16	0	2	0	1	0	1	0	5	0	4	0	5	2	2	2	5	2	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:203149598C>T	ENST00000255409.3	-	8	1019	c.894_splice	c.e8+1	p.E298_splice		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	298					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						ACTCCATTACCTCATAGTAGG	0.552													10	37					0	0	0	0	T	203149598	C	T	203149598	5	4	364	1	0	0	0	0	0	0	1	0	3369	695	24	4	269	4	CHI3L1	1	203149598	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	124897	203149598	46101023	163	69092											
REN	5972	broad.mit.edu	37	chr1	204124207	204124207	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aactctgtgtagaactttcgGatgaaggtggcccccagggc	9	9	13	10	1	1	2	0	1	1	1	2	3	1	3	2	4	2	1	2	4	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:204124207G>A	ENST00000367195.2	-	9	1192	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	REN_ENST00000272190.8_Silent_p.I386I			P00797	RENI_HUMAN	renin	386					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGAACTTTCGGATGAAGGTGG	0.607													10	43					0	0	0	0	A	204124207	G	A	204124207	2	1	364	1	0	0	0	0	0	0	0	1	13306	1164	41	2		2	REN	1	204124207	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	974609	204124207	45126414	164	69093											
MDM4	4194	broad.mit.edu	37	chr1	204518442	204518442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcgaagaaccatttcggctCctgtcgttagacctaaagat	11	11	9	10	3	0	3	0	0	0	3	4	4	1	3	3	1	1	2	3	1	5	3	rs140091735	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:204518442C>T	ENST00000367182.3	+	11	1267	c.1105C>T	c.(1105-1107)Cct>Tct	p.P369S	MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000367183.3_Missense_Mutation_p.P43S|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000454264.2_Missense_Mutation_p.P319S|MDM4_ENST00000507825.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	369					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CATTTCGGCTCCTGTCGTTAG	0.408			A		"GBM, bladder, retinoblastoma"								55	89					0	0	0	0	T	204518442	C	T	204518442	3	4	364	1	0	0	0	0	1	0	0	0	9483	855	30	2	1143	2	MDM4	1	204518442	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	394235	204518442	44732179	165	69094											
CNTN2	6900	broad.mit.edu	37	chr1	205042324	205042324	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggaccacagggcccggaggGgatgggatccctgcagaagt	9	4	17	11	2	0	1	0	0	0	1	1	5	1	5	3	6	1	1	3	6	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:205042324G>A	ENST00000331830.4	+	22	3257	c.2973G>A	c.(2971-2973)ggG>ggA	p.G991G		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	991	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGCCCGGAGGGGATGGGATCC	0.577													14	53					0	0	0	0	A	205042324	G	A	205042324	2	1	364	1	0	0	0	0	0	0	0	1	3671	1219	43	4		4	CNTN2	1	205042324	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	523882	205042324	44208297	166	69095											
KLHDC8A	55220	broad.mit.edu	37	chr1	205306655	205306655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtgggcatggcagggaGgatctcccatttgttcttcc	5	12	15	9	0	2	0	0	0	2	0	4	2	3	2	2	5	0	3	2	5	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:205306655G>A	ENST00000367156.3	-	9	1741	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F	KLHDC8A_ENST00000539253.1_Missense_Mutation_p.L309F|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.L175F|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.L309F|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.L196F	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	309										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ATGGCAGGGAGGATCTCCCAT	0.572													30	121					0	0	0	0	A	205306655	G	A	205306655	3	1	364	1	0	0	0	0	1	0	0	0	8414	1000	35	4	131	4	KLHDC8A	1	205306655	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	264331	205306655	43943966	167	69096											
SLC26A9	115019	broad.mit.edu	37	chr1	205904874	205904874	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtatgtccggtccttcttCtcaaactcatcgtcgaagag	8	12	10	11	3	3	1	2	0	2	1	8	2	5	1	2	2	1	1	2	2	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:205904874C>T	ENST00000367135.3	-	2	188	c.75G>A	c.(73-75)gaG>gaA	p.E25E	SLC26A9_ENST00000340781.4_Silent_p.E25E|SLC26A9_ENST00000367134.2_Silent_p.E25E|RP4-681L3.2_ENST00000421166.1_RNA	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	25						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGTCCTTCTTCTCAAACTCAT	0.542													28	115					0	0	0	0	T	205904874	C	T	205904874	2	4	364	1	0	0	0	0	0	0	0	1	14612	912	32	2		2	SLC26A9	1	205904874	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	598219	205904874	43345747	168	69097											
CTSE	1510	broad.mit.edu	37	chr1	206317632	206317632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggagctgggagaggcccaagGatcccttcacaggtgagaag	11	5	16	9	0	1	2	1	1	0	2	2	6	2	4	2	5	1	1	2	5	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:206317632G>A	ENST00000361052.3	+	1	174	c.56G>A	c.(55-57)gGa>gAa	p.G19E	CTSE_ENST00000432969.2_5'UTR|CTSE_ENST00000360218.2_Missense_Mutation_p.G19E|CTSE_ENST00000358184.2_Missense_Mutation_p.G19E			P14091	CATE_HUMAN	cathepsin E	19					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GAGGCCCAAGGATCCCTTCAC	0.582													20	49					0	0	0	0	A	206317632	G	A	206317632	3	1	364	1	0	0	0	0	1	0	0	0	4065	1174	41	2	58	2	CTSE	1	206317632	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	412758	206317632	42932989	169	69098											
DYRK3	8444	broad.mit.edu	37	chr1	206821332	206821332	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggagcatcttaagaaacaGgataaaactggtagtatgaa	17	10	10	4	0	1	2	0	1	1	1	1	4	1	4	0	3	3	3	0	3	7	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:206821332G>A	ENST00000367106.1	+	4	1202	c.729G>A	c.(727-729)caG>caA	p.Q243Q	DYRK3_ENST00000367109.2_Silent_p.Q263Q|DYRK3_ENST00000367108.3_Silent_p.Q243Q|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	263	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTAAGAAACAGGATAAAACTG	0.443													24	110					0	0	0	0	A	206821332	G	A	206821332	2	1	364	1	0	0	0	0	0	0	0	1	4893	991	35	4		4	DYRK3	1	206821332	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	503700	206821332	42429289	170	69099											
CR2	1380	broad.mit.edu	37	chr1	207640107	207640107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcccatagtaccaggaGgatacaaaattagaggctct	14	8	10	9	0	1	2	0	1	1	1	1	4	1	4	2	3	3	2	2	3	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:207640107G>A	ENST00000367057.3	+	2	484	c.295G>A	c.(295-297)Gga>Aga	p.G99R	CR2_ENST00000458541.2_Missense_Mutation_p.G99R|CR2_ENST00000367059.3_Missense_Mutation_p.G99R|CR2_ENST00000367058.3_Missense_Mutation_p.G99R	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	99	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.G99*(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGTACCAGGAGGATACAAAAT	0.408													27	35					0	0	0	0	A	207640107	G	A	207640107	3	1	364	1	0	0	0	0	1	0	0	0	3872	1001	35	4	301	4	CR2	1	207640107	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	818775	207640107	41610514	171	69100											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209936417	209936417	+	Missense_Mutation	SNP	G	G	A																															tttcttctctttccagttacGgagttgcagttctggataag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:209936417G>A	ENST00000367024.1	+	6	1072	c.556G>A	c.(556-558)Gga>Aga	p.G186R	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.G166R|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.G166R|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.G166R|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.G186R			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	186						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TTCCAGTTACGGAGTTGCAGT	0.408													5	46					0	0	0	0	A	209936417	G	A	209936417	3	1	364	1	0	0	0	0	1	0	0	0	16537	1117	39	1	570	1	TRAF3IP3	1	209936417	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2296310	209936417	39314204	172	69101	855	2									
TRAF3IP3	80342	broad.mit.edu	37	chr1	209936418	209936418	+	Missense_Mutation	SNP	G	G	A																															ttcttctctttccagttacgGagttgcagttctggataagg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:209936418G>A	ENST00000367024.1	+	6	1073	c.557G>A	c.(556-558)gGa>gAa	p.G186E	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.G166E|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.G166E|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.G166E|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.G186E			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	186						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TCCAGTTACGGAGTTGCAGTT	0.403													5	47					0	0	0	0	A	209936418	G	A	209936418	3	1	364	1	0	0	0	0	1	0	0	0	16537	1174	41	2	571	2	TRAF3IP3	1	209936418	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	209936418	39314203	173	69102	855	2									
C1orf74	148304	broad.mit.edu	37	chr1	209956454	209956454	+	Missense_Mutation	SNP	G	G	A																															gggaacaggatagcccaggaGgatcccaaatacagtacaca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:209956454G>A	ENST00000294811.1	-	2	782	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	176										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		TAGCCCAGGAGGATCCCAAAT	0.507													44	58					0	0	0	0	A	209956454	G	A	209956454	3	1	364	1	0	0	0	0	1	0	0	0	2078	1000	35	4	287	4	C1orf74	1	209956454	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	20036	209956454	39294167	174	69103	856	2									
C1orf74	148304	broad.mit.edu	37	chr1	209956455	209956455	+	Silent	SNP	G	G	A																															ggaacaggatagcccaggagGatcccaaatacagtacacag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:209956455G>A	ENST00000294811.1	-	2	781	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	175										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		AGCCCAGGAGGATCCCAAATA	0.502													46	57					0	0	0	0	A	209956455	G	A	209956455	2	1	364	1	0	0	0	0	0	0	0	1	2078	1164	41	2		2	C1orf74	1	209956455	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	209956455	39294166	175	69104	856	2									
RPS6KC1	26750	broad.mit.edu	37	chr1	213414910	213414910	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgtaaatttacctggTgaattggagtcaacaagaga	13	13	9	6	0	2	2	1	1	1	1	2	4	2	3	1	2	2	1	1	2	6	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:213414910T>G	ENST00000366960.3	+	11	2241	c.2091T>G	c.(2089-2091)ggT>ggG	p.G697G	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Silent_p.G485G|RPS6KC1_ENST00000366959.3_Silent_p.G685G|RPS6KC1_ENST00000543354.1_Silent_p.G400G	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	697					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ATTTACCTGGTGAATTGGAGT	0.388													18	67					0	0	0	0	G	213414910	T	G	213414910	2	3	364	1	0	0	0	0	0	0	0	1	13743	1683	59	5		5	RPS6KC1	1	213414910	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	3458455	213414910	35835711	176	69105											
PROX1	5629	broad.mit.edu	37	chr1	214171352	214171352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccttcccttgatggcctatCcatttcagagcccattaggt	7	13	7	14	0	1	2	1	1	0	1	3	2	3	2	5	2	1	0	5	2	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:214171352C>T	ENST00000366958.4	+	2	2082	c.1474C>T	c.(1474-1476)Cca>Tca	p.P492S	PROX1_ENST00000435016.1_Missense_Mutation_p.P492S|PROX1_ENST00000498508.2_Missense_Mutation_p.P492S|PROX1_ENST00000261454.4_Missense_Mutation_p.P492S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	492					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GATGGCCTATCCATTTCAGAG	0.592													16	70					0	0	0	0	T	214171352	C	T	214171352	3	4	364	1	0	0	0	0	1	0	0	0	12640	855	30	2	1476	2	PROX1	1	214171352	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	756442	214171352	35079269	177	69106											
PTPN14	5784	broad.mit.edu	37	chr1	214625317	214625317	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggccaaagtagtgcgTctagataaaagggtaaaata	18	7	10	6	1	1	1	0	0	1	1	1	1	1	1	2	2	1	2	2	2	9	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:214625317T>G	ENST00000366956.5	-	3	369	c.174_splice	c.e3-1	p.T59_splice	PTPN14_ENST00000543945.1_Splice_Site_p.T59_splice	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	59	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AAGTAGTGCGTCTAGATAAAA	0.488													16	49					0	0	0	0	G	214625317	T	G	214625317	5	3	364	1	0	0	0	0	0	0	1	0	12863	1681	58	5	3456	5	PTPN14	1	214625317	Splice_Site	SNP	T	TCGA-D6-6516-01A-11D-1870-08	453965	214625317	34625304	178	69107											
USH2A	7399	broad.mit.edu	37	chr1	215808040	215808040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcccaggagttgttaggaCcaagcctgcaaaacccagag	12	8	10	11	0	0	1	0	0	0	1	1	3	1	3	4	2	3	3	4	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:215808040C>T	ENST00000366943.2	-	70	15444	c.15058G>A	c.(15058-15060)Gtc>Atc	p.V5020I	USH2A_ENST00000307340.3_Missense_Mutation_p.V5020I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5020					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTGTTAGGACCAAGCCTGCA	0.443										HNSCC(13;0.011)			10	73					0	0	0	0	T	215808040	C	T	215808040	3	4	364	1	0	0	0	0	1	0	0	0	17132	507	18	4	562	4	USH2A	1	215808040	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1182723	215808040	33442581	179	69108											
USH2A	7399	broad.mit.edu	37	chr1	216380737	216380737	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgatagcagaagaacttTgaacttgtcctctgggcgga	11	11	12	7	1	1	4	0	2	1	2	2	6	2	5	1	2	3	1	1	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:216380737T>C	ENST00000366943.2	-	16	3580	c.3194A>G	c.(3193-3195)cAa>cGa	p.Q1065R	USH2A_ENST00000307340.3_Missense_Mutation_p.Q1065R|USH2A_ENST00000366942.3_Missense_Mutation_p.Q1065R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1065	Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAAGAACTTTGAACTTGTCC	0.413										HNSCC(13;0.011)			14	67					0	0	0	0	C	216380737	T	C	216380737	3	2	364	1	0	0	0	0	1	0	0	0	17132	1812	63	5	12656	5	USH2A	1	216380737	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	572697	216380737	32869884	180	69109											
ESRRG	2104	broad.mit.edu	37	chr1	216680458	216680458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggccagcttcataatcCtgcagcgcttcatgtaagac	9	11	9	12	1	2	1	2	0	0	1	3	1	3	1	2	1	4	5	2	1	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:216680458C>T	ENST00000391890.3	-	9	1669	c.1152G>A	c.(1150-1152)caG>caA	p.Q384Q	ESRRG_ENST00000493748.1_Silent_p.Q377Q|ESRRG_ENST00000408911.3_Silent_p.Q400Q|ESRRG_ENST00000366938.2_Silent_p.Q377Q|ESRRG_ENST00000366940.2_Silent_p.Q377Q|ESRRG_ENST00000359162.2_Silent_p.Q377Q|ESRRG_ENST00000361395.2_Silent_p.Q377Q|ESRRG_ENST00000493603.1_Silent_p.Q377Q|ESRRG_ENST00000487276.1_Silent_p.Q377Q|ESRRG_ENST00000360012.3_Silent_p.Q377Q|ESRRG_ENST00000463665.1_Silent_p.Q338Q|ESRRG_ENST00000361525.3_Silent_p.Q377Q|ESRRG_ENST00000366937.1_Silent_p.Q412Q	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	400					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTCATAATCCTGCAGCGCTT	0.498													14	51					0	0	0	0	T	216680458	C	T	216680458	2	4	364	1	0	0	0	0	0	0	0	1	5300	680	24	4		4	ESRRG	1	216680458	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	299721	216680458	32570163	181	69110											
MARK1	4139	broad.mit.edu	37	chr1	220791840	220791840	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagtctgggcgtcattctCtatacattagtcagtggctc	7	14	11	9	1	4	0	2	0	2	0	6	1	4	1	0	3	1	1	0	3	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:220791840C>T	ENST00000402574.1	+	8	1338	c.336C>T	c.(334-336)ctC>ctT	p.L112L	MARK1_ENST00000366918.4_Silent_p.L225L|MARK1_ENST00000366917.4_Silent_p.L247L	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	247	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L247L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GCGTCATTCTCTATACATTAG	0.428													14	65					0	0	0	0	T	220791840	C	T	220791840	2	4	364	1	0	0	0	0	0	0	0	1	9381	900	32	2		2	MARK1	1	220791840	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4111382	220791840	28458781	182	69111											
DUSP10	11221	broad.mit.edu	37	chr1	221879775	221879775	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagggagttgtcacagaggTtttcatggttctgcttaaaa	10	13	13	5	0	3	1	2	0	1	1	3	3	3	3	0	4	1	4	0	4	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:221879775T>C	ENST00000366899.3	-	3	1083	c.845A>G	c.(844-846)aAc>aGc	p.N282S	DUSP10_ENST00000323825.3_5'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	282	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GTCACAGAGGTTTTCATGGTT	0.572													30	71					0	0	0	0	C	221879775	T	C	221879775	3	2	364	1	0	0	0	0	1	0	0	0	4846	1725	60	5	611	5	DUSP10	1	221879775	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1087935	221879775	27370846	183	69112											
HHIPL2	79802	broad.mit.edu	37	chr1	222717466	222717466	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taatcagagcagaggcccggGagattccggagaggcgtctg	10	6	16	9	3	2	4	1	0	1	4	3	6	3	4	2	4	1	1	2	4	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:222717466G>A	ENST00000343410.6	-	2	445	c.387C>T	c.(385-387)ctC>ctT	p.L129L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	129					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGAGGCCCGGGAGATTCCGGA	0.577													33	153					0	0	0	0	A	222717466	G	A	222717466	2	1	364	1	0	0	0	0	0	0	0	1	7144	1161	41	2		2	HHIPL2	1	222717466	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	837691	222717466	26533155	184	69113											
WNT3A	89780	broad.mit.edu	37	chr1	228246955	228246955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgcccaacttctgcgagcCcaaccctgagacgggctcct	7	7	9	18	3	1	1	0	1	1	1	3	3	2	1	4	1	4	1	4	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:228246955C>T	ENST00000284523.1	+	4	926	c.848C>T	c.(847-849)cCc>cTc	p.P283L	WNT3A_ENST00000366753.2_Missense_Mutation_p.P283L	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	283					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TTCTGCGAGCCCAACCCTGAG	0.701													6	12					0	0	0	0	T	228246955	C	T	228246955	3	4	364	1	0	0	0	0	1	0	0	0	17485	623	22	4	862	4	WNT3A	1	228246955	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5529489	228246955	21003666	185	69114											
OBSCN	84033	broad.mit.edu	37	chr1	228447459	228447459	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggggccagcagctctccTtccgcctgcaagtggcaggt	5	8	14	14	1	1	0	0	0	1	0	3	0	2	0	4	4	3	4	4	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:228447459T>A	ENST00000570156.2	+	17	5193	c.5119T>A	c.(5119-5121)Ttc>Atc	p.F1707I	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.F179I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	693	Ig-like 17.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCAGCTCTCCTTCCGCCTGCA	0.577													14	71					0	0	0	0	A	228447459	T	A	228447459	3	1	364	1	0	0	0	0	1	0	0	0	10883	1624	56	5		5	OBSCN	1	228447459	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	200504	228447459	20803162	186	69115											
C1orf198	84886	broad.mit.edu	37	chr1	230979405	230979405	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctaggggtcagcgactGgaactcggcctcaggcccct	6	7	14	14	2	2	0	2	0	0	0	3	2	2	1	3	6	2	1	3	6	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:230979405G>A	ENST00000366663.5	-	3	762	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	C1orf198_ENST00000470540.1_Nonsense_Mutation_p.Q170*|C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000523410.1_Nonsense_Mutation_p.Q78*	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	208										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTCAGCGACTGGAACTCGGCC	0.637													18	75					0	0	0	0	A	230979405	G	A	230979405	4	1	364	1	0	0	0	0	0	1	0	0	2045	1357	47	4	369	4	C1orf198	1	230979405	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2531946	230979405	18271216	187	69116											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649796	232649796	+	Missense_Mutation	SNP	G	G	T																															ccagaactgaaagaggatgaGttggctcgagagagcgcaat																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:232649796G>T	ENST00000366630.1	-	2	1648	c.1290C>A	c.(1288-1290)aaC>aaA	p.N430K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.N430K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	430					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGAGGATGAGTTGGCTCGAG	0.512													30	139					1.61788e-16	1.67544e-16	1	0	T	232649796	G	T	232649796	3	4	364	1	0	0	0	0	1	0	0	0	14418	1020	36	4	3962	4	SIPA1L2	1	232649796	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1670391	232649796	16600825	188	69117	857	2									
SIPA1L2	57568	broad.mit.edu	37	chr1	232649797	232649797	+	Missense_Mutation	SNP	T	T	G																															cagaactgaaagaggatgagTtggctcgagagagcgcaatc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:232649797T>G	ENST00000366630.1	-	2	1647	c.1289A>C	c.(1288-1290)aAc>aCc	p.N430T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.N430T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	430					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGAGGATGAGTTGGCTCGAGA	0.517													32	138					0	0	0	0	G	232649797	T	G	232649797	3	3	364	1	0	0	0	0	1	0	0	0	14418	1725	60	5	3963	5	SIPA1L2	1	232649797	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1	232649797	16600824	189	69118	857	2									
TARBP1	6894	broad.mit.edu	37	chr1	234584226	234584226	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattacagaaacaattacCtatactgagtcttcattcct	14	14	3	10	0	3	2	2	1	1	1	4	2	4	2	2	0	4	0	2	0	7	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:234584226C>T	ENST00000040877.1	-	11	1960	c.1961_splice	c.e11+1	p.S654_splice		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	654					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AAACAATTACCTATACTGAGT	0.373													8	39					0	0	0	0	T	234584226	C	T	234584226	5	4	364	1	0	0	0	0	0	0	1	0	15646	695	24	4	2984	4	TARBP1	1	234584226	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1934429	234584226	14666395	190	69119											
B3GALNT2	148789	broad.mit.edu	37	chr1	235643460	235643460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgaagcgagcaatgaagagGgcctcctacaaattgggaga	14	6	13	8	1	0	4	0	2	0	2	1	6	1	4	2	2	3	1	2	2	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:235643460G>A	ENST00000366600.3	-	5	789	c.561C>T	c.(559-561)gcC>gcT	p.A187A	B3GALNT2_ENST00000313984.3_Silent_p.A228A|B3GALNT2_ENST00000478199.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	187					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CAATGAAGAGGGCCTCCTACA	0.423													12	46					0	0	0	0	A	235643460	G	A	235643460	2	1	364	1	0	0	0	0	0	0	0	1	1250	1219	43	4		4	B3GALNT2	1	235643460	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1059234	235643460	13607161	191	69120											
RYR2	6262	broad.mit.edu	37	chr1	237540664	237540664	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaccctgcctctaagcagCgatcagaaggagaaaaagta	16	6	9	10	1	2	2	1	0	1	2	2	4	2	2	2	1	4	2	2	1	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237540664C>T	ENST00000366574.2	+	8	822	c.505C>T	c.(505-507)Cga>Tga	p.R169*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.R167*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R153*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	169					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCTAAGCAGCGATCAGAAGG	0.418													4	35					0	0	0	0	T	237540664	C	T	237540664	4	4	364	1	0	0	0	0	0	1	0	0	13854	760	27	1	535	1	RYR2	1	237540664	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1897204	237540664	11709957	192	69121											
RYR2	6262	broad.mit.edu	37	chr1	237754053	237754053	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttatcgcctgagcatgccGatcgagtgcgcggaggtctt	6	12	13	10	5	1	1	0	1	1	0	3	4	1	2	2	2	3	1	2	2	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237754053G>A	ENST00000366574.2	+	31	4238	c.3921G>A	c.(3919-3921)ccG>ccA	p.P1307P	RYR2_ENST00000360064.6_Silent_p.P1305P|RYR2_ENST00000542537.1_Silent_p.P1291P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1307	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAGCATGCCGATCGAGTGCG	0.507													42	143					0	0	0	0	A	237754053	G	A	237754053	2	1	364	1	0	0	0	0	0	0	0	1	13854	1045	37	1		1	RYR2	1	237754053	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	213389	237754053	11496568	193	69122											
RYR2	6262	broad.mit.edu	37	chr1	237777850	237777850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggcagtcttcatgcccggGacccagttggagggactact	8	8	14	11	1	2	0	1	0	1	0	2	3	2	3	2	4	2	2	2	4	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237777850G>A	ENST00000366574.2	+	37	5739	c.5422G>A	c.(5422-5424)Gac>Aac	p.D1808N	RYR2_ENST00000360064.6_Missense_Mutation_p.D1806N|RYR2_ENST00000542537.1_Missense_Mutation_p.D1792N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1808	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCATGCCCGGGACCCAGTTGG	0.478													45	168					0	0	0	0	A	237777850	G	A	237777850	3	1	364	1	0	0	0	0	1	0	0	0	13854	1174	41	2	5568	2	RYR2	1	237777850	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	23797	237777850	11472771	194	69123											
RYR2	6262	broad.mit.edu	37	chr1	237804216	237804216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacacagaggaggaggaaGatgacactatccacatgggg	14	5	15	7	0	0	4	0	2	0	2	1	7	1	7	1	5	0	0	1	5	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237804216G>A	ENST00000366574.2	+	47	7452	c.7135G>A	c.(7135-7137)Gat>Aat	p.D2379N	RYR2_ENST00000360064.6_Missense_Mutation_p.D2377N|RYR2_ENST00000542537.1_Missense_Mutation_p.D2363N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2379	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAGGAGGAAGATGACACTAT	0.428													7	27					0	0	0	0	A	237804216	G	A	237804216	3	1	364	1	0	0	0	0	1	0	0	0	13854	942	33	2	7321	2	RYR2	1	237804216	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	26366	237804216	11446405	195	69124											
RYR2	6262	broad.mit.edu	37	chr1	237837398	237837398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgacatactcttaggaGgaggaaaccatcctctgctg	10	10	10	11	0	2	1	0	1	2	0	4	4	4	4	3	3	3	1	3	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237837398G>A	ENST00000366574.2	+	59	8910	c.8593G>A	c.(8593-8595)Gga>Aga	p.G2865R	RYR2_ENST00000360064.6_Missense_Mutation_p.G2863R|RYR2_ENST00000542537.1_Missense_Mutation_p.G2849R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2865	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTCTTAGGAGGAGGAAACCA	0.408													16	83					0	0	0	0	A	237837398	G	A	237837398	3	1	364	1	0	0	0	0	1	0	0	0	13854	1001	35	4	8827	4	RYR2	1	237837398	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	33182	237837398	11413223	196	69125											
RYR2	6262	broad.mit.edu	37	chr1	237947405	237947405	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgaattatttccagccCtttctgggccgcatcgaaat	8	13	8	12	2	1	1	0	1	1	0	4	2	3	1	4	1	1	1	4	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237947405C>G	ENST00000366574.2	+	90	12710	c.12393C>G	c.(12391-12393)ccC>ccG	p.P4131P	RYR2_ENST00000360064.6_Silent_p.P4137P|RYR2_ENST00000542537.1_Silent_p.P4115P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4131					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTCCAGCCCTTTCTGGGCC	0.527													11	50					0	0	0	0	G	237947405	C	G	237947405	2	3	364	1	0	0	0	0	0	0	0	1	13854	668	24	4		4	RYR2	1	237947405	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	110007	237947405	11303216	197	69126											
CEP170	9859	broad.mit.edu	37	chr1	243289829	243289829	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atactgaaatcagcctcagaTtcagcattctcaaattcagc	14	11	5	11	0	5	2	5	1	1	1	6	2	5	2	1	0	4	1	1	0	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:243289829T>C	ENST00000366542.1	-	20	4728	c.4677A>G	c.(4675-4677)gaA>gaG	p.E1559E	CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000481987.1_Silent_p.E295E|CEP170_ENST00000366544.1_Silent_p.E1461E|CEP170_ENST00000490813.1_Silent_p.E268E|CEP170_ENST00000366543.1_Silent_p.E1435E	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1559	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CAGCCTCAGATTCAGCATTCT	0.458													6	18					0	0	0	0	C	243289829	T	C	243289829	2	2	364	1	0	0	0	0	0	0	0	1	3279	1490	52	5		5	CEP170	1	243289829	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	5342424	243289829	5960792	198	69127											
ZNF695	57116	broad.mit.edu	37	chr1	247163359	247163359	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaattctagagccacatcCctgaatgccaatagtccctg	12	9	8	12	0	1	3	0	1	1	2	3	4	3	3	4	0	2	0	4	0	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247163359C>T	ENST00000339986.7	-	2	168	c.21G>A	c.(19-21)agG>agA	p.R7R	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Silent_p.R7R	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	7	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GAGCCACATCCCTGAATGCCA	0.453													9	55					0	0	0	0	T	247163359	C	T	247163359	2	4	364	1	0	0	0	0	0	0	0	1	18193	622	22	4		4	ZNF695	1	247163359	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3873530	247163359	2087262	199	69128											
OR2W5	441932	broad.mit.edu	37	chr1	247655080	247655080	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctctccctcatcctcatctCctatggcgtgattgcagccg	5	12	8	16	2	4	1	2	1	2	0	7	1	5	1	4	1	2	2	4	1	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247655080C>T	ENST00000522351.1	+	0	711							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ATCCTCATCTCCTATGGCGTG	0.562													25	81					0	0	0	0	T	247655080	C	T	247655080	1	4	364	0	1	0	0	0	0	0	0	0	11105	842	30	2		2	OR2W5	1	247655080	RNA	SNP	C	TCGA-D6-6516-01A-11D-1870-08	491721	247655080	1595541	200	69129											
OR2G2	81470	broad.mit.edu	37	chr1	247752021	247752021	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtgcgtcctcccggctgtGatgtcctgtgaccgctatgt	4	12	13	12	3	0	2	0	2	0	0	3	3	3	2	4	1	1	2	4	1	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247752021G>A	ENST00000320065.1	+	1	360	c.360G>A	c.(358-360)gtG>gtA	p.V120V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	120			V -> L (in dbSNP:rs1151687).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCCCGGCTGTGATGTCCTGTG	0.532													33	149					0	0	0	0	A	247752021	G	A	247752021	2	1	364	1	0	0	0	0	0	0	0	1	11069	1277	45	2		2	OR2G2	1	247752021	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	96941	247752021	1498600	201	69130											
OR14A16	284532	broad.mit.edu	37	chr1	247978769	247978769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccaaggaatgaaatggagTtgttgtgtatcaaagaattg	15	11	12	3	0	1	2	1	1	0	1	1	4	1	4	1	2	1	3	1	2	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247978769T>C	ENST00000357627.1	-	1	262	c.263A>G	c.(262-264)aAc>aGc	p.N88S		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TGAAATGGAGTTGTTGTGTAT	0.448													8	40					0	0	0	0	C	247978769	T	C	247978769	3	2	364	1	0	0	0	0	1	0	0	0	11016	1725	60	5	670	5	OR14A16	1	247978769	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	226748	247978769	1271852	202	69131											
OR2L3	391192	broad.mit.edu	37	chr1	248224682	248224682	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgaaatctgcagaagggagGaagaaagcctacctgacctg	15	6	12	8	0	1	4	0	2	1	2	1	6	1	6	3	2	3	1	3	2	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248224682G>A	ENST00000359959.3	+	1	699	c.699G>A	c.(697-699)agG>agA	p.R233R	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R233S(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAGAAGGGAGGAAGAAAGCCT	0.478													74	105					0	0	0	0	A	248224682	G	A	248224682	2	1	364	1	0	0	0	0	0	0	0	1	11079	1165	41	2		2	OR2L3	1	248224682	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	245913	248224682	1025939	203	69132											
OR2L13	284521	broad.mit.edu	37	chr1	248262753	248262753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatcaaactggaatatttCtcttgtgccttatcatcctc	11	15	4	11	0	3	0	2	0	1	0	6	1	4	1	2	1	2	0	2	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248262753C>T	ENST00000366478.2	+	3	413	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	OR2L13_ENST00000358120.2_Missense_Mutation_p.L26F	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.L26I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGGAATATTTCTCTTGTGCCT	0.438													56	80					0	0	0	0	T	248262753	C	T	248262753	3	4	364	1	0	0	0	0	1	0	0	0	11077	913	32	2	78	2	OR2L13	1	248262753	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	38071	248262753	987868	204	69133											
OR2M5	127059	broad.mit.edu	37	chr1	248308568	248308568	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttttcagtggccttcaTgggaaactctgtcatggttc	7	15	9	10	0	5	0	3	0	2	0	6	1	5	1	1	3	1	1	1	3	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248308568T>G	ENST00000366476.1	+	1	119	c.119T>G	c.(118-120)aTg>aGg	p.M40R		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GTGGCCTTCATGGGAAACTCT	0.522													120	183					0	0	0	0	G	248308568	T	G	248308568	3	3	364	1	0	0	0	0	1	0	0	0	11084	1464	51	5	121	5	OR2M5	1	248308568	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	45815	248308568	942053	205	69134											
OR2T12	127064	broad.mit.edu	37	chr1	248458859	248458859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctaggagaataaaatctgGggtagtatttctcatctcca	12	13	8	8	0	3	1	1	0	3	1	6	2	4	1	2	3	0	2	2	3	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248458859G>A	ENST00000317996.1	-	1	21	c.22C>T	c.(22-24)Cca>Tca	p.P8S		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATAAAATCTGGGGTAGTATTT	0.438													23	89					0	0	0	0	A	248458859	G	A	248458859	3	1	364	1	0	0	0	0	1	0	0	0	11090	1232	43	4	943	4	OR2T12	1	248458859	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	150291	248458859	791762	206	69135											
OR2G6	391211	broad.mit.edu	37	chr1	248685539	248685539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacgactttcaacgaggcaGaactctttgtggccagtgta	11	11	10	9	2	2	1	1	0	1	1	2	3	2	1	1	2	3	2	1	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248685539G>A	ENST00000343414.4	+	1	624	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAACGAGGCAGAACTCTTTGT	0.473													41	51					0	0	0	0	A	248685539	G	A	248685539	3	1	364	1	0	0	0	0	1	0	0	0	11071	943	33	2	594	2	OR2G6	1	248685539	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	226680	248685539	565082	207	69136											
TPO	7173	broad.mit.edu	37	chr2	1457507	1457507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccaacacggccctggcacGatggctccctccagtctatg	7	8	9	17	2	1	0	0	0	1	0	4	1	4	0	4	3	1	2	4	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:1457507G>A	ENST00000345913.4	+	6	615	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.R175Q|TPO_ENST00000382201.3_Missense_Mutation_p.R175Q|TPO_ENST00000349624.3_Missense_Mutation_p.R175Q|TPO_ENST00000346956.3_Missense_Mutation_p.R175Q|TPO_ENST00000337415.3_Missense_Mutation_p.R175Q|TPO_ENST00000329066.4_Missense_Mutation_p.R175Q	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	175					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCCTGGCACGATGGCTCCCT	0.602													38	104					0	0	0	0	A	1457507	G	A	1457507	3	1	364	1	0	0	0	0	1	0	0	0	16505	1058	37	1	542	1	TPO	2	1457507	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08		1457507	241741866	208	69137											
TPO	7173	broad.mit.edu	37	chr2	1460007	1460007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccttcgggggaggggctGactgccagatgacttgtgag	6	9	17	9	1	0	4	0	3	0	1	1	5	0	5	2	4	2	1	2	4	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:1460007G>A	ENST00000345913.4	+	7	863	c.772G>A	c.(772-774)Gac>Aac	p.D258N	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.D258N|TPO_ENST00000382201.3_Missense_Mutation_p.D258N|TPO_ENST00000349624.3_Missense_Mutation_p.D258N|TPO_ENST00000346956.3_Missense_Mutation_p.D258N|TPO_ENST00000337415.3_Missense_Mutation_p.D258N|TPO_ENST00000329066.4_Missense_Mutation_p.D258N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	258					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAGGGGCTGACTGCCAGAT	0.463													4	44					0	0	0	0	A	1460007	G	A	1460007	3	1	364	1	0	0	0	0	1	0	0	0	16505	1290	45	2	794	2	TPO	2	1460007	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2500	1460007	241739366	209	69138											
TSSC1	7260	broad.mit.edu	37	chr2	3193185	3193185	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctcagggaggcaaacaGccacgggtcagccgaggacc	12	3	14	12	2	2	0	2	0	0	0	2	3	2	2	3	4	4	2	3	4	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:3193185G>A	ENST00000398659.4	-	10	1305	c.1165C>T	c.(1165-1167)Ctg>Ttg	p.L389L	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Silent_p.L362L			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	362							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GAGGCAAACAGCCACGGGTCA	0.622													4	16					0	0	0	0	A	3193185	G	A	3193185	2	1	364	1	0	0	0	0	0	0	0	1	16761	962	34	4		4	TSSC1	2	3193185	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1733178	3193185	240006188	210	69139											
COLEC11	78989	broad.mit.edu	37	chr2	3691452	3691452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaggacgaggctgccaatgGcctgatggccgcatacctgg	9	6	14	12	2	0	1	0	1	0	0	0	3	0	2	4	5	2	2	4	5	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:3691452G>A	ENST00000403096.3	+	6	973	c.482G>A	c.(481-483)gGc>gAc	p.G161D	COLEC11_ENST00000236693.7_Missense_Mutation_p.G184D|COLEC11_ENST00000402794.1_Missense_Mutation_p.G137D|COLEC11_ENST00000418971.2_Missense_Mutation_p.G201D|COLEC11_ENST00000382062.2_Missense_Mutation_p.G163D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Missense_Mutation_p.G113D|COLEC11_ENST00000402922.1_Missense_Mutation_p.G137D|COLEC11_ENST00000349077.4_Missense_Mutation_p.G187D	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	187	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GCTGCCAATGGCCTGATGGCC	0.662													4	32					0	0	0	0	A	3691452	G	A	3691452	3	1	364	1	0	0	0	0	1	0	0	0	3741	1203	42	4	665	4	COLEC11	2	3691452	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	498267	3691452	239507921	211	69140											
SOX11	6664	broad.mit.edu	37	chr2	5833795	5833795	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagccgcctctactacagCttcaagaacatcaccaagca	13	6	7	15	1	3	1	2	0	1	1	3	1	3	1	3	1	6	3	3	1	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:5833795C>T	ENST00000322002.3	+	1	997	c.942C>T	c.(940-942)agC>agT	p.S314S		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	314					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCTACTACAGCTTCAAGAACA	0.736													8	13					0	0	0	0	T	5833795	C	T	5833795	2	4	364	1	0	0	0	0	0	0	0	1	15030	796	28	4		4	SOX11	2	5833795	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2142343	5833795	237365578	212	69141											
ROCK2	9475	broad.mit.edu	37	chr2	11354483	11354483	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatataaaacatgttttacCttttccaaatcagtaaatct	17	15	2	7	0	2	0	1	0	1	0	3	0	3	0	2	0	2	2	2	0	8	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:11354483C>T	ENST00000315872.6	-	17	2491	c.2043_splice	c.e17+1	p.K681_splice	ROCK2_ENST00000401753.1_Splice_Site_p.K438_splice	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	681	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CATGTTTTACCTTTTCCAAAT	0.328													20	47					0	0	0	0	T	11354483	C	T	11354483	5	4	364	1	0	0	0	0	0	0	1	0	13603	695	24	4	2191	4	ROCK2	2	11354483	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5520688	11354483	231844890	213	69142											
GREB1	9687	broad.mit.edu	37	chr2	11750976	11750976	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccccgaagcagtgcccCtgcggccacgggctcatggt	7	6	12	16	3	1	0	1	0	0	0	2	1	2	0	5	3	4	2	5	3	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:11750976C>T	ENST00000381486.2	+	18	3129	c.2829C>T	c.(2827-2829)ccC>ccT	p.P943P	GREB1_ENST00000234142.5_Silent_p.P943P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	943						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGCAGTGCCCCTGCGGCCACG	0.692													11	19					0	0	0	0	T	11750976	C	T	11750976	2	4	364	1	0	0	0	0	0	0	0	1	6810	668	24	4		4	GREB1	2	11750976	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	396493	11750976	231448397	214	69143											
NTSR2	23620	broad.mit.edu	37	chr2	11802337	11802337	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagcagttagtgccaaGgggagcacgaaggacaccag	15	3	15	8	1	0	0	0	0	0	0	0	4	0	3	2	4	3	3	2	4	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:11802337G>A	ENST00000306928.5	-	2	688	c.654C>T	c.(652-654)ccC>ccT	p.P218P		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	218					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TTAGTGCCAAGGGGAGCACGA	0.647													65	140					0	0	0	0	A	11802337	G	A	11802337	2	1	364	1	0	0	0	0	0	0	0	1	10782	987	35	4		4	NTSR2	2	11802337	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	51361	11802337	231397036	215	69144											
NBAS	51594	broad.mit.edu	37	chr2	15307441	15307441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttggtcacaattggaatCattcaccttcaagaaataag	14	13	6	8	0	5	1	4	0	1	1	5	2	5	2	1	2	0	0	1	2	5	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:15307441C>T	ENST00000281513.5	-	52	6872	c.6847G>A	c.(6847-6849)Gat>Aat	p.D2283N	NBAS_ENST00000441750.1_Missense_Mutation_p.D2163N	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2283										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAATTGGAATCATTCACCTTC	0.517													8	36					0	0	0	0	T	15307441	C	T	15307441	3	4	364	1	0	0	0	0	1	0	0	0	10256	826	29	2	272	2	NBAS	2	15307441	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3505104	15307441	227891932	216	69145											
WDR35	57539	broad.mit.edu	37	chr2	20131060	20131060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttaacttttcctcgCtgggcattcttcatctgttc	4	20	5	12	1	3	0	1	0	2	0	7	0	5	0	2	1	1	3	2	1	1	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:20131060C>A	ENST00000345530.3	-	25	3082	c.2967G>T	c.(2965-2967)caG>caT	p.Q989H	WDR35_ENST00000281405.4_Missense_Mutation_p.Q978H|WDR35_ENST00000416055.2_Missense_Mutation_p.Q462H	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	989										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTTCCTCGCTGGGCATTCT	0.338													15	102					9.16793e-09	9.34397e-09	1	0	A	20131060	C	A	20131060	3	1	364	1	0	0	0	0	1	0	0	0	17385	796	28	4	594	4	WDR35	2	20131060	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4823619	20131060	223068313	217	69146											
LAPTM4A	9741	broad.mit.edu	37	chr2	20234791	20234791	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcagctggagtccaaGgccaggaggtcatctttgta	10	8	15	8	0	2	0	1	0	1	0	3	3	3	3	2	6	1	3	2	6	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:20234791G>A	ENST00000175091.4	-	5	972	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	155					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGTCCAAGGCCAGGAGGT	0.428													3	9					0	0	0	0	A	20234791	G	A	20234791	2	1	364	1	0	0	0	0	0	0	0	1	8677	987	35	4		4	LAPTM4A	2	20234791	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	103731	20234791	222964582	218	69147											
RHOB	388	broad.mit.edu	37	chr2	20647719	20647719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtgctctgccaagaccaagGaaggcgtgcgcgaggtcttc	9	7	14	11	3	2	1	0	0	2	1	3	3	2	2	2	3	3	1	2	3	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:20647719G>A	ENST00000272233.4	+	1	885	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	165					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CAAGACCAAGGAAGGCGTGCG	0.662													20	101					0	0	0	0	A	20647719	G	A	20647719	3	1	364	1	0	0	0	0	1	0	0	0	13415	1175	41	2	495	2	RHOB	2	20647719	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	412928	20647719	222551654	219	69148											
APOB	338	broad.mit.edu	37	chr2	21235226	21235226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgttaggatccctctgaCaagacaggccatatgtgcct	10	10	10	11	0	1	2	0	1	1	1	2	3	2	3	3	2	1	1	3	2	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:21235226C>A	ENST00000233242.1	-	26	4641	c.4514G>T	c.(4513-4515)tGt>tTt	p.C1505F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1505					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCCCTCTGACAAGACAGGCC	0.458													11	58					1.61879e-10	1.65736e-10	1	0	A	21235226	C	A	21235226	3	1	364	1	0	0	0	0	1	0	0	0	787	478	17	4	9193	4	APOB	2	21235226	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	587507	21235226	221964147	220	69149											
APOB	338	broad.mit.edu	37	chr2	21265245	21265245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccataccttgcagttgatCctggtggcacttcttgaatc	7	14	8	12	0	1	2	0	2	1	0	4	2	3	2	3	2	2	3	3	2	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:21265245C>T	ENST00000233242.1	-	3	352	c.225G>A	c.(223-225)agG>agA	p.R75R	APOB_ENST00000399256.4_Silent_p.R75R	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	75	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCAGTTGATCCTGGTGGCAC	0.587													19	92					0	0	0	0	T	21265245	C	T	21265245	2	4	364	1	0	0	0	0	0	0	0	1	787	854	30	2		2	APOB	2	21265245	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	30019	21265245	221934128	221	69150											
C2orf44	80304	broad.mit.edu	37	chr2	24261404	24261404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccttcttaaaggtcacaaGgaccaaatgtgaagaatctt	14	11	8	8	0	3	2	1	1	2	1	3	3	3	3	2	2	1	0	2	2	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:24261404G>A	ENST00000295148.4	-	2	1018	c.961C>T	c.(961-963)Ctt>Ttt	p.L321F	C2orf44_ENST00000406895.3_Missense_Mutation_p.L321F	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	321							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGTCACAAGGACCAAATGT	0.388			T	ALK	NSCLC								11	61					0	0	0	0	A	24261404	G	A	24261404	3	1	364	1	0	0	0	0	1	0	0	0	2188	1000	35	4	1216	4	C2orf44	2	24261404	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2996159	24261404	218937969	222	69151											
FKBP1B	2281	broad.mit.edu	37	chr2	24283794	24283794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgaagagggtgcagccCaggtaggatgaggattcgca	10	9	16	6	1	0	3	0	2	0	1	1	5	0	5	1	4	2	4	1	4	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:24283794C>A	ENST00000380991.4	+	3	345	c.196C>A	c.(196-198)Cag>Aag	p.Q66K	FKBP1B_ENST00000380986.4_Missense_Mutation_p.Q66K|FKBP1B_ENST00000452109.1_Missense_Mutation_p.Q37K			P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa	66	PPIase FKBP-type.				'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state	calcium channel complex|sarcoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding			lung(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTGCAGCCCAGGTAGGATG	0.488											OREG0014491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	30					0.150653	0.151212	1	0	A	24283794	C	A	24283794	3	1	364	1	0	0	0	0	1	0	0	0	5952	595	21	4	206	4	FKBP1B	2	24283794	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	22390	24283794	218915579	223	69152											
ITSN2	50618	broad.mit.edu	37	chr2	24433775	24433775	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgctcgagggccagctttagGgaggaatggtctgcatggct	7	9	16	9	2	1	0	0	0	1	0	2	3	1	2	1	5	2	4	1	5	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:24433775G>A	ENST00000355123.4	-	34	4574	c.4131C>T	c.(4129-4131)tcC>tcT	p.S1377S	ITSN2_ENST00000361999.3_Silent_p.S1350S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1377	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGCTTTAGGGAGGAATGGT	0.597													20	56					0	0	0	0	A	24433775	G	A	24433775	2	1	364	1	0	0	0	0	0	0	0	1	7980	1219	43	4		4	ITSN2	2	24433775	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	149981	24433775	218765598	224	69153											
DNMT3A	1788	broad.mit.edu	37	chr2	25457168	25457168	+	Missense_Mutation	SNP	C	C	T																															ttacacacacgcaaaatactCcttcagcggagcgaagaggt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:25457168C>T	ENST00000264709.3	-	23	3056	c.2719G>A	c.(2719-2721)Gag>Aag	p.E907K	DNMT3A_ENST00000402667.1_Missense_Mutation_p.E684K|DNMT3A_ENST00000380746.4_Missense_Mutation_p.E718K|DNMT3A_ENST00000321117.5_Missense_Mutation_p.E907K	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	907					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAAAATACTCCTTCAGCGGA	0.498			"Mis, F, N, S"		AML								13	78					0	0	0	0	T	25457168	C	T	25457168	3	4	364	1	0	0	0	0	1	0	0	0	4712	864	30	2	23	2	DNMT3A	2	25457168	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1023393	25457168	217742205	225	69154	858	2									
DNMT3A	1788	broad.mit.edu	37	chr2	25457169	25457169	+	Silent	SNP	C	C	T																															tacacacacgcaaaatactcCttcagcggagcgaagaggtg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:25457169C>T	ENST00000264709.3	-	23	3055	c.2718G>A	c.(2716-2718)aaG>aaA	p.K906K	DNMT3A_ENST00000402667.1_Silent_p.K683K|DNMT3A_ENST00000380746.4_Silent_p.K717K|DNMT3A_ENST00000321117.5_Silent_p.K906K	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	906					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAATACTCCTTCAGCGGAG	0.498			"Mis, F, N, S"		AML								12	80					0	0	0	0	T	25457169	C	T	25457169	2	4	364	1	0	0	0	0	0	0	0	1	4712	680	24	4		4	DNMT3A	2	25457169	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	25457169	217742204	226	69155	858	2									
DNMT3A	1788	broad.mit.edu	37	chr2	25469512	25469512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggctccaggcccttaGggccagaaggctggaagccc	7	6	15	13	0	0	1	0	0	0	1	1	2	1	2	4	6	1	2	4	6	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:25469512G>A	ENST00000264709.3	-	10	1593	c.1256C>T	c.(1255-1257)cCt>cTt	p.P419L	DNMT3A_ENST00000402667.1_Missense_Mutation_p.P196L|DNMT3A_ENST00000380746.4_Missense_Mutation_p.P230L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.P419L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	419					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCCCTTAGGGCCAGAAGG	0.617			"Mis, F, N, S"		AML								8	61					0	0	0	0	A	25469512	G	A	25469512	3	1	364	1	0	0	0	0	1	0	0	0	4712	1000	35	4	1538	4	DNMT3A	2	25469512	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	12343	25469512	217729861	227	69156											
ASXL2	55252	broad.mit.edu	37	chr2	26029098	26029098	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccaacaaaatatttacCttcaaagtatatactcccat	15	12	1	13	0	1	0	1	0	0	0	3	0	3	0	4	0	3	1	4	0	9	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:26029098C>T	ENST00000435504.4	-	4	545	c.252_splice	c.e4+1	p.K84_splice	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Splice_Site_p.K56_splice			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATATTTACCTTCAAAGTAT	0.393													9	21					0	0	0	0	T	26029098	C	T	26029098	5	4	364	1	0	0	0	0	0	0	1	0	1071	695	24	4	4095	4	ASXL2	2	26029098	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	559586	26029098	217170275	228	69157											
KIF3C	3797	broad.mit.edu	37	chr2	26203352	26203352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgctcaccaggctgcGgtcatcctggatggctgcct	4	10	11	16	2	2	0	2	0	0	0	5	1	4	1	4	4	2	3	4	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:26203352G>C	ENST00000264712.3	-	1	2014	c.1435C>G	c.(1435-1437)Cgc>Ggc	p.R479G	KIF3C_ENST00000405914.1_Missense_Mutation_p.R479G	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	479					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)					ACCAGGCTGCGGTCATCCTGG	0.607													27	71					0	0	0	0	C	26203352	G	C	26203352	3	2	364	1	0	0	0	0	1	0	0	0	8353	1116	39	3	978	3	KIF3C	2	26203352	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	174254	26203352	216996021	229	69158											
DPYSL5	56896	broad.mit.edu	37	chr2	27147884	27147884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgtgattacgccctcCacgtggggatcacctggtgg	5	11	13	12	2	2	1	1	1	1	0	3	2	3	2	3	4	2	1	3	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27147884C>T	ENST00000288699.6	+	3	549	c.391C>T	c.(391-393)Cac>Tac	p.H131Y	DPYSL5_ENST00000401478.1_Missense_Mutation_p.H131Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	131					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACGCCCTCCACGTGGGGAT	0.612													8	32					0	0	0	0	T	27147884	C	T	27147884	3	4	364	1	0	0	0	0	1	0	0	0	4786	594	21	4	397	4	DPYSL5	2	27147884	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	944532	27147884	216051489	230	69159											
EMILIN1	11117	broad.mit.edu	37	chr2	27307867	27307867	+	Missense_Mutation	SNP	G	G	A																															ctcttctcacaggtcctcaaGgtgaacagggtgagtgcctt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27307867G>A	ENST00000380320.4	+	6	3065	c.2566G>A	c.(2566-2568)Ggt>Agt	p.G856S		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	856	Collagen-like.				cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTCCTCAAGGTGAACAGGG	0.542													36	103					0	0	0	0	A	27307867	G	A	27307867	3	1	364	1	0	0	0	0	1	0	0	0	5131	1000	35	4	2588	4	EMILIN1	2	27307867	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	159983	27307867	215891506	231	69160	859	2									
EMILIN1	11117	broad.mit.edu	37	chr2	27307868	27307868	+	Missense_Mutation	SNP	G	G	A																															tcttctcacaggtcctcaagGtgaacagggtgagtgccttt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27307868G>A	ENST00000380320.4	+	6	3066	c.2567G>A	c.(2566-2568)gGt>gAt	p.G856D		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	856	Collagen-like.				cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCTCAAGGTGAACAGGGT	0.542													36	105					0	0	0	0	A	27307868	G	A	27307868	3	1	364	1	0	0	0	0	1	0	0	0	5131	1261	44	4	2589	4	EMILIN1	2	27307868	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	27307868	215891505	232	69161	859	2									
SLC30A3	7781	broad.mit.edu	37	chr2	27479726	27479726	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggcacagatggagaagagGaaggtgctgatggggtcggc	11	5	20	5	1	0	4	0	1	0	3	1	6	0	5	0	7	1	2	0	7	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27479726G>A	ENST00000233535.4	-	6	1165	c.813C>T	c.(811-813)ttC>ttT	p.F271F	SLC30A3_ENST00000447008.2_Silent_p.F266F	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	271					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGAAGAGGAAGGTGCTGA	0.572													10	29					0	0	0	0	A	27479726	G	A	27479726	2	1	364	1	0	0	0	0	0	0	0	1	14644	1165	41	2		2	SLC30A3	2	27479726	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	171858	27479726	215719647	233	69162											
SLC30A3	7781	broad.mit.edu	37	chr2	27481075	27481075	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgggtggctggacgggtGgagagccagagggagaagag	9	4	23	5	2	0	4	0	0	0	4	0	7	0	5	1	6	2	1	1	6	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27481075G>A	ENST00000233535.4	-	3	730	c.378C>T	c.(376-378)tcC>tcT	p.S126S	SLC30A3_ENST00000447008.2_Silent_p.S121S	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	126					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGACGGGTGGAGAGCCAGA	0.637													23	53					0	0	0	0	A	27481075	G	A	27481075	2	1	364	1	0	0	0	0	0	0	0	1	14644	1335	47	4		4	SLC30A3	2	27481075	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1349	27481075	215718298	234	69163											
SNX17	9784	broad.mit.edu	37	chr2	27599207	27599207	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccggcgggtggggggtactCtgagacgctcagacagccag	7	5	18	11	3	2	2	1	1	1	2	2	3	2	2	2	5	2	2	2	5	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27599207C>T	ENST00000233575.2	+	13	1432	c.1210C>T	c.(1210-1212)Ctg>Ttg	p.L404L	SNX17_ENST00000542478.1_Silent_p.L190L|SNX17_ENST00000543024.1_Silent_p.L190L|SNX17_ENST00000537606.1_Silent_p.L379L	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	404					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGGGTACTCTGAGACGCTC	0.602													42	99					0	0	0	0	T	27599207	C	T	27599207	2	4	364	1	0	0	0	0	0	0	0	1	14976	912	32	2		2	SNX17	2	27599207	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	118132	27599207	215600166	235	69164											
MRPL33	9553	broad.mit.edu	37	chr2	28002382	28002382	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgactttgatttataaaGagaagactgagggcggggat	15	10	13	3	1	0	5	0	3	0	2	0	7	0	6	0	3	0	0	0	3	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:28002382G>T	ENST00000379666.3	+	3	185	c.124G>T	c.(124-126)Gag>Tag	p.E42*	MRPL33_ENST00000296102.3_3'UTR|AC110084.1_ENST00000601759.1_Intron|MRPL33_ENST00000483992.1_3'UTR	NM_145330.2	NP_663303.1	O75394	RM33_HUMAN	mitochondrial ribosomal protein L33	0					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(172;0.155)					GATTTATAAAGAGAAGACTGA	0.403													51	103					7.90463e-13	8.11754e-13	1	0	T	28002382	G	T	28002382	4	4	364	1	0	0	0	0	0	1	0	0	9866	943	33	2	245	2	MRPL33	2	28002382	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	403175	28002382	215196991	236	69165											
FAM179A	165186	broad.mit.edu	37	chr2	29259474	29259474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaccagtgggcgctggagtCcttcgccaagatgatccccc	8	7	12	14	2	0	2	0	1	0	1	3	4	2	3	5	2	1	1	5	2	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:29259474C>T	ENST00000379558.4	+	18	2837	c.2486C>T	c.(2485-2487)tCc>tTc	p.S829F	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.S774F	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	829							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCGCTGGAGTCCTTCGCCAAG	0.512													13	57					0	0	0	0	T	29259474	C	T	29259474	3	4	364	1	0	0	0	0	1	0	0	0	5546	855	30	2	2552	2	FAM179A	2	29259474	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1257092	29259474	213939899	237	69166											
CDKL4	344387	broad.mit.edu	37	chr2	39406422	39406422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggagctctccaggagttggGaacaggttaatctgtcatct	10	11	12	8	0	4	0	1	0	3	0	5	3	4	3	1	4	2	3	1	4	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:39406422G>A	ENST00000378803.1	-	8	832	c.833C>T	c.(832-834)tCc>tTc	p.S278F	CDKL4_ENST00000395035.3_Missense_Mutation_p.S278F	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	278	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				CAGGAGTTGGGAACAGGTTAA	0.433													16	105					0	0	0	0	A	39406422	G	A	39406422	3	1	364	1	0	0	0	0	1	0	0	0	3185	1174	41	2	118	2	CDKL4	2	39406422	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	10146948	39406422	203792951	238	69167											
MTA3	57504	broad.mit.edu	37	chr2	42936241	42936241	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccattagggcagaatgtaaGatgcttttaaattcttaacc	13	13	8	7	0	1	2	0	0	1	2	1	2	1	2	2	1	2	3	2	1	6	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:42936241G>A	ENST00000407270.3	+	14	1759	c.1530G>A	c.(1528-1530)aaG>aaA	p.K510K	MTA3_ENST00000405094.1_Intron|MTA3_ENST00000406652.1_Intron|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000405592.1_Intron|MTA3_ENST00000406911.1_Silent_p.K509K	NM_020744.2	NP_065795.1	Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CAGAATGTAAGATGCTTTTAA	0.388													8	10					0	0	0	0	A	42936241	G	A	42936241	2	1	364	1	0	0	0	0	0	0	0	1	9980	933	33	2		2	MTA3	2	42936241	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3529819	42936241	200263132	239	69168											
THADA	63892	broad.mit.edu	37	chr2	43779473	43779473	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagattttccatcaagcattTgataactagaaaaagcaaac	19	10	5	7	0	1	3	1	1	0	2	2	3	2	3	1	0	4	2	1	0	7	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:43779473T>A	ENST00000405006.4	-	18	3031	c.2680A>T	c.(2680-2682)Aaa>Taa	p.K894*	THADA_ENST00000405975.2_Nonsense_Mutation_p.K894*|THADA_ENST00000415080.2_Nonsense_Mutation_p.K604*|THADA_ENST00000330266.7_Nonsense_Mutation_p.K604*|THADA_ENST00000402360.2_Nonsense_Mutation_p.K894*	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	894							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATCAAGCATTTGATAACTAGA	0.368													10	29					0	0	0	0	A	43779473	T	A	43779473	4	1	364	1	0	0	0	0	0	1	0	0	15934	1821	63	5	3265	5	THADA	2	43779473	Nonsense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	843232	43779473	199419900	240	69169											
PLEKHH2	130271	broad.mit.edu	37	chr2	43992618	43992618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagcaaaaggcagcatttCaccacctctctgctccagca	12	8	6	15	0	3	0	2	0	1	0	5	0	4	0	3	1	4	5	3	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:43992618C>T	ENST00000282406.4	+	30	4473	c.4363C>T	c.(4363-4365)Cac>Tac	p.H1455Y		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1455						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGCAGCATTTCACCACCTCTC	0.483													23	74					0	0	0	0	T	43992618	C	T	43992618	3	4	364	1	0	0	0	0	1	0	0	0	12149	826	29	2	4477	2	PLEKHH2	2	43992618	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	213145	43992618	199206755	241	69170											
SIX3	6496	broad.mit.edu	37	chr2	45169459	45169459	+	Silent	SNP	C	C	T																															ggcggcggcggctccagggcCcccccggaagagttgtccat																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:45169459C>T	ENST00000260653.3	+	1	558	c.216C>T	c.(214-216)gcC>gcT	p.A72A		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	72					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				gcTCCAGGGCCCCCCCGGAAG	0.761													9	9					0	0	0	0	T	45169459	C	T	45169459	2	4	364	1	0	0	0	0	0	0	0	1	14436	610	22	4		4	SIX3	2	45169459	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1176841	45169459	198029914	242	69171	860	2									
SIX3	6496	broad.mit.edu	37	chr2	45169460	45169460	+	Missense_Mutation	SNP	C	C	T																															gcggcggcggctccagggccCccccggaagagttgtccatg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:45169460C>T	ENST00000260653.3	+	1	559	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	73					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				cTCCAGGGCCCCCCCGGAAGA	0.756													9	9					0	0	0	0	T	45169460	C	T	45169460	3	4	364	1	0	0	0	0	1	0	0	0	14436	623	22	4	219	4	SIX3	2	45169460	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	45169460	198029913	243	69172	860	2									
STON1	11037	broad.mit.edu	37	chr2	48809495	48809495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taaggatacactttcctgtcCcatcgcagtggatcaaggcc	10	10	9	12	1	1	0	1	0	0	0	4	2	3	2	3	3	1	1	3	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:48809495C>T	ENST00000309835.3	+	1	1733	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	STON1_ENST00000406226.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P575S|STON1_ENST00000404752.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P575S					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTTCCTGTCCCATCGCAGTG	0.498													22	141					0	0	0	0	T	48809495	C	T	48809495	3	4	364	1	0	0	0	0	1	0	0	0	15406	623	22	4	1725	4	STON1	2	48809495	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3640035	48809495	194389878	244	69173											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48874001	48874001	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggagtcagtgctcagtggTtcagctagcatggctcaaaa	10	10	13	8	0	4	0	4	0	0	0	4	1	4	1	0	3	3	5	0	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:48874001T>C	ENST00000394754.1	+	8	3024	c.2910T>C	c.(2908-2910)ggT>ggC	p.G970G	GTF2A1L_ENST00000430487.2_Silent_p.G232G|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Silent_p.G970G|GTF2A1L_ENST00000403751.3_Silent_p.G266G|STON1-GTF2A1L_ENST00000394751.3_Silent_p.G923G|STON1-GTF2A1L_ENST00000309827.2_Silent_p.G970G|STON1-GTF2A1L_ENST00000402114.2_Silent_p.G970G	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		923					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCTCAGTGGTTCAGCTAGCA	0.453													20	44					0	0	0	0	C	48874001	T	C	48874001	2	2	364	1	0	0	0	0	0	0	0	1	15407	1712	60	5		5	STON1-GTF2A1L	2	48874001	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	64506	48874001	194325372	245	69174											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48906536	48906536	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtgttatgtgttttggaggGagagactatgtatttgcaaa	10	15	14	2	0	0	1	0	0	0	1	0	4	0	3	0	3	1	4	0	3	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:48906536G>A	ENST00000394754.1	+	11	3618	c.3504G>A	c.(3502-3504)ggG>ggA	p.G1168G	GTF2A1L_ENST00000430487.2_Silent_p.G430G|STON1-GTF2A1L_ENST00000405008.1_Silent_p.G1168G|GTF2A1L_ENST00000403751.3_Silent_p.G464G|STON1-GTF2A1L_ENST00000394751.3_Silent_p.G1121G|STON1-GTF2A1L_ENST00000309827.2_Silent_p.G1168G|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1121					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTTTGGAGGGAGAGACTATG	0.348													18	74					0	0	0	0	A	48906536	G	A	48906536	2	1	364	1	0	0	0	0	0	0	0	1	15407	1161	41	2		2	STON1-GTF2A1L	2	48906536	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	32535	48906536	194292837	246	69175											
FSHR	2492	broad.mit.edu	37	chr2	49381544	49381544	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgccagcaaagagaccaGgagcagggccataattatgc	15	5	12	9	0	0	1	0	0	0	1	0	4	0	2	3	2	4	2	3	2	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:49381544G>A	ENST00000406846.2	-	1	132	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	FSHR_ENST00000346173.3_Silent_p.L5L|FSHR_ENST00000304421.4_Silent_p.L5L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	5					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AAAGAGACCAGGAGCAGGGCC	0.493									Gonadal Dysgenesis, 46 XX				14	56					0	0	0	0	A	49381544	G	A	49381544	2	1	364	1	0	0	0	0	0	0	0	1	6121	991	35	4		4	FSHR	2	49381544	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	475008	49381544	193817829	247	69176											
NRXN1	9378	broad.mit.edu	37	chr2	51254989	51254989	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgtccctgcgcttggaCttgacctccacccacttggc	5	11	9	16	1	1	1	1	1	0	0	3	2	3	2	4	2	1	1	4	2	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:51254989C>T	ENST00000404971.1	-	2	1762	c.423G>A	c.(421-423)aaG>aaA	p.K141K	NRXN1_ENST00000405581.1_Silent_p.K141K|NRXN1_ENST00000406316.2_Silent_p.K141K|NRXN1_ENST00000405472.3_Silent_p.K141K|NRXN1_ENST00000402717.3_Silent_p.K141K|NRXN1_ENST00000406859.3_Silent_p.K141K|NRXN1_ENST00000401669.2_Silent_p.K141K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	141	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCGCTTGGACTTGACCTCCA	0.677													4	34					0	0	0	0	T	51254989	C	T	51254989	2	4	364	1	0	0	0	0	0	0	0	1	10736	564	20	4		4	NRXN1	2	51254989	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1873445	51254989	191944384	248	69177											
SPTBN1	6711	broad.mit.edu	37	chr2	54891677	54891677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtccagccccatcccctccCcgacctctgatcgtaaagcc	8	7	6	20	2	1	1	0	1	1	0	5	2	4	1	9	0	2	1	9	0	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:54891677C>T	ENST00000356805.4	+	33	6789	c.6508C>T	c.(6508-6510)Ccg>Tcg	p.P2170S		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2170					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CATCCCCTCCCCGACCTCTGA	0.592													41	117					0	0	0	0	T	54891677	C	T	54891677	3	4	364	1	0	0	0	0	1	0	0	0	15209	623	22	4	6834	4	SPTBN1	2	54891677	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3636688	54891677	188307696	249	69178											
RTN4	57142	broad.mit.edu	37	chr2	55209756	55209756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacttctgaaccaactcCtcagatatagcaacttcaga	13	11	5	12	0	3	3	2	1	1	2	4	3	4	3	2	0	5	2	2	0	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:55209756C>T	ENST00000337526.6	-	5	3498	c.3255G>A	c.(3253-3255)gaG>gaA	p.E1085E	RTN4_ENST00000404909.1_Silent_p.E879E|RTN4_ENST00000394609.2_Silent_p.E92E|RTN4_ENST00000354474.6_Silent_p.E853E|RTN4_ENST00000486085.1_5'UTR|RTN4_ENST00000317610.7_Silent_p.E266E|RTN4_ENST00000357732.4_Silent_p.E285E|RTN4_ENST00000394611.2_Silent_p.E879E|RTN4_ENST00000402434.2_Silent_p.E238E|RTN4_ENST00000405240.1_Silent_p.E879E|RTN4_ENST00000357376.3_Silent_p.E879E	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1085	Reticulon.				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GAACCAACTCCTCAGATATAG	0.383													31	62					0	0	0	0	T	55209756	C	T	55209756	2	4	364	1	0	0	0	0	0	0	0	1	13813	680	24	4		4	RTN4	2	55209756	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	318079	55209756	187989617	250	69179											
CCDC85A	114800	broad.mit.edu	37	chr2	56420170	56420170	+	Missense_Mutation	SNP	C	C	T																															aagcactcaaaggacctagcCcggagcaccacaaacccttg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:56420170C>T	ENST00000407595.2	+	2	1337	c.835C>T	c.(835-837)Ccg>Tcg	p.P279S	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	279	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGACCTAGCCCGGAGCACCA	0.642													28	71					0	0	0	0	T	56420170	C	T	56420170	3	4	364	1	0	0	0	0	1	0	0	0	2886	623	22	4	841	4	CCDC85A	2	56420170	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1210414	56420170	186779203	251	69180	861	2									
CCDC85A	114800	broad.mit.edu	37	chr2	56420171	56420171	+	Missense_Mutation	SNP	C	C	T																															agcactcaaaggacctagccCggagcaccacaaacccttgt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:56420171C>T	ENST00000407595.2	+	2	1338	c.836C>T	c.(835-837)cCg>cTg	p.P279L	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	279	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGACCTAGCCCGGAGCACCAC	0.642													29	74					0	0	0	0	T	56420171	C	T	56420171	3	4	364	1	0	0	0	0	1	0	0	0	2886	652	23	1	842	1	CCDC85A	2	56420171	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	56420171	186779202	252	69181	861	2									
BCL11A	53335	broad.mit.edu	37	chr2	60689546	60689546	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtacatgtgtagctgctGggctcatctttacctgcaaa	8	14	10	9	0	2	0	1	0	1	0	2	0	2	0	1	1	5	7	1	1	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:60689546G>A	ENST00000335712.6	-	4	728	c.501C>T	c.(499-501)ccC>ccT	p.P167P	BCL11A_ENST00000356842.4_Silent_p.P167P|BCL11A_ENST00000359629.5_Silent_p.P167P|BCL11A_ENST00000537768.1_Silent_p.P15P|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.P133P|BCL11A_ENST00000358510.4_Silent_p.P133P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	167	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGTAGCTGCTGGGCTCATCTT	0.423			T	IGH@	B-CLL								16	90					0	0	0	0	A	60689546	G	A	60689546	2	1	364	1	0	0	0	0	0	0	0	1	1367	1335	47	4		4	BCL11A	2	60689546	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4269375	60689546	182509827	253	69182											
AFTPH	54812	broad.mit.edu	37	chr2	64796332	64796332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaagcttttgtcctccttgGgaatagacacccgaaacatt	12	11	8	10	1	0	2	0	0	0	2	2	4	2	3	3	1	2	1	3	1	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:64796332G>A	ENST00000422803.1	+	4	2508	c.2194G>A	c.(2194-2196)Gga>Aga	p.G732R	AFTPH_ENST00000238856.4_Missense_Mutation_p.G732R|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000409933.1_Missense_Mutation_p.G732R|AFTPH_ENST00000409183.1_Missense_Mutation_p.G363R|AFTPH_ENST00000238855.7_Missense_Mutation_p.G732R			Q6ULP2	AFTIN_HUMAN	aftiphilin	732					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GTCCTCCTTGGGAATAGACAC	0.423													39	65					0	0	0	0	A	64796332	G	A	64796332	3	1	364	1	0	0	0	0	1	0	0	0	364	1233	43	4	2204	4	AFTPH	2	64796332	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4106786	64796332	178403041	254	69183											
GKN2	200504	broad.mit.edu	37	chr2	69172545	69172545	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaattcccaagatgcccagGagcccagcctttgcacagcc	11	6	9	15	0	0	1	0	0	0	1	1	3	1	2	5	1	5	1	5	1	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:69172545G>A	ENST00000328895.4	-	6	618	c.510C>T	c.(508-510)ctC>ctT	p.L170L	GKN2_ENST00000481498.1_3'UTR	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	170						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AGATGCCCAGGAGCCCAGCCT	0.368													39	176					0	0	0	0	A	69172545	G	A	69172545	2	1	364	1	0	0	0	0	0	0	0	1	6476	1161	41	2		2	GKN2	2	69172545	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4376213	69172545	174026828	255	69184											
GMCL1	64395	broad.mit.edu	37	chr2	70076805	70076805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgttccttcaacttgtgCcttcttggaatggatcttta	7	17	9	8	0	3	0	1	0	2	0	4	3	4	3	2	3	2	1	2	3	3	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:70076805C>T	ENST00000282570.3	+	8	1116	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	289					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TCAACTTGTGCCTTCTTGGAA	0.299													12	71					0	0	0	0	T	70076805	C	T	70076805	3	4	364	1	0	0	0	0	1	0	0	0	6536	739	26	4	895	4	GMCL1	2	70076805	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	904260	70076805	173122568	256	69185											
DYSF	8291	broad.mit.edu	37	chr2	71892332	71892332	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccagctccgcccctccCagctcctccacctcttctgc	4	8	7	22	1	2	0	0	0	2	0	6	1	6	1	8	1	3	2	8	1	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:71892332C>T	ENST00000258104.3	+	46	5375	c.5098C>T	c.(5098-5100)Cag>Tag	p.Q1700*	DYSF_ENST00000409651.1_Nonsense_Mutation_p.Q1732*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.Q1738*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.Q1731*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Nonsense_Mutation_p.Q1721*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.Q1739*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.Q1701*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.Q1722*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.Q1718*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.Q1708*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.Q1717*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1700						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGCCCCTCCCAGCTCCTCCA	0.532													9	96					0	0	0	0	T	71892332	C	T	71892332	4	4	364	1	0	0	0	0	0	1	0	0	4895	595	21	4	5539	4	DYSF	2	71892332	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1815527	71892332	171307041	257	69186											
ALMS1	7840	broad.mit.edu	37	chr2	73680577	73680577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgcttcaaagaaccctcttCcacgggtgtatctaatggtg	9	13	9	10	1	3	1	1	0	2	1	4	1	4	1	2	2	2	2	2	2	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:73680577C>T	ENST00000264448.6	+	8	7031	c.6920C>T	c.(6919-6921)tCc>tTc	p.S2307F	ALMS1_ENST00000409009.1_Missense_Mutation_p.S2265F|ALMS1_ENST00000377715.1_Missense_Mutation_p.S2307F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2307					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAACCCTCTTCCACGGGTGTA	0.433													24	47					0	0	0	0	T	73680577	C	T	73680577	3	4	364	1	0	0	0	0	1	0	0	0	535	855	30	2	6950	2	ALMS1	2	73680577	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1788245	73680577	169518796	258	69187											
ALMS1	7840	broad.mit.edu	37	chr2	73718483	73718483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagtcgtacagccttctcttCcagacagtaacactattact	12	12	5	12	1	1	1	0	0	1	1	4	1	2	1	2	0	4	2	2	0	5	6	rs45493191		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:73718483C>T	ENST00000264448.6	+	10	9505	c.9394C>T	c.(9394-9396)Cca>Tca	p.P3132S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P3090S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3132					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCCTTCTCTTCCAGACAGTAA	0.393													20	104					0	0	0	0	T	73718483	C	T	73718483	3	4	364	1	0	0	0	0	1	0	0	0	535	855	30	2	9432	2	ALMS1	2	73718483	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	37906	73718483	169480890	259	69188											
REG1B	5968	broad.mit.edu	37	chr2	79312675	79312675	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactgctcggggatccagTgtcccaggacttgtaggaga	9	8	14	10	1	0	1	0	0	0	1	3	4	2	3	2	4	2	3	2	4	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:79312675T>G	ENST00000305089.3	-	5	456	c.376A>C	c.(376-378)Act>Cct	p.T126P		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	126	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GGGGATCCAGTGTCCCAGGAC	0.557													11	69					0	0	0	0	G	79312675	T	G	79312675	3	3	364	1	0	0	0	0	1	0	0	0	13293	1696	59	5	132	5	REG1B	2	79312675	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	5594192	79312675	163886698	260	69189											
GGCX	2677	broad.mit.edu	37	chr2	85782639	85782639	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagagccagtgccgggacaaAtattccatggaatagccttc	13	8	10	10	1	0	1	0	0	0	1	2	3	1	3	4	2	3	0	4	2	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:85782639A>T	ENST00000233838.3	-	6	773	c.693T>A	c.(691-693)taT>taA	p.Y231*	GGCX_ENST00000430215.3_Nonsense_Mutation_p.Y174*	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	231					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GCCGGGACAAATATTCCATGG	0.473													20	59					0	0	0	0	T	85782639	A	T	85782639	4	4	364	1	0	0	0	0	0	1	0	0	6407	108	4	5	1623	5	GGCX	2	85782639	Nonsense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	6469964	85782639	157416734	261	69190											
FAHD2A	51011	broad.mit.edu	37	chr2	96072818	96072818	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagaacagaacgtgccCgtgcccaaggagcccatcat	13	5	10	13	2	1	2	1	0	0	2	1	3	1	3	3	1	6	1	3	1	4	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:96072818C>T	ENST00000233379.4	+	3	528	c.375C>T	c.(373-375)ccC>ccT	p.P125P	FAHD2A_ENST00000447036.1_Silent_p.P125P	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	125							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						AGAACGTGCCCGTGCCCAAGG	0.572													11	76					0	0	0	0	T	96072818	C	T	96072818	2	4	364	1	0	0	0	0	0	0	0	1	5414	639	23	1		1	FAHD2A	2	96072818	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	10290179	96072818	147126555	262	69191											
ASTL	431705	broad.mit.edu	37	chr2	96789974	96789974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagagatagggaggccGgagcggggctcctaccagtg	8	5	18	10	2	0	1	0	0	0	1	1	4	1	3	3	5	3	3	3	5	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:96789974G>A	ENST00000342380.2	-	9	910	c.911C>T	c.(910-912)cCg>cTg	p.P304L		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	304					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TAGGGAGGCCGGAGCGGGGCT	0.632													8	13					0	0	0	0	A	96789974	G	A	96789974	3	1	364	1	0	0	0	0	1	0	0	0	1067	1116	39	1	387	1	ASTL	2	96789974	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	717156	96789974	146409399	263	69192											
NCAPH	23397	broad.mit.edu	37	chr2	97024782	97024782	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacaaatatgtgtgttacaGggaagaaatgatttcccttg	13	13	10	5	0	0	2	0	1	0	1	1	3	1	3	1	1	2	2	1	1	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:97024782G>A	ENST00000455200.1	+	10	1470		c.e10-1		NCAPH_ENST00000240423.4_Splice_Site|NCAPH_ENST00000427946.1_Splice_Site			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H						cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GTGTGTTACAGGGAAGAAATG	0.398													11	29					0	0	0	0	A	97024782	G	A	97024782	5	1	364	1	0	0	0	0	0	0	1	0	10279	1014	35	4	1246	4	NCAPH	2	97024782	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	234808	97024782	146174591	264	69193											
SEMA4C	54910	broad.mit.edu	37	chr2	97526482	97526482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccccggtcctcccctcCtagttgtaagcgcacgtaac	6	9	7	19	3	0	0	0	0	0	0	4	0	4	0	7	1	2	4	7	1	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:97526482C>T	ENST00000305476.5	-	15	2515	c.2383G>A	c.(2383-2385)Gga>Aga	p.G795R		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	795					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TCCTCCCCTCCTAGTTGTAAG	0.642													21	111					0	0	0	0	T	97526482	C	T	97526482	3	4	364	1	0	0	0	0	1	0	0	0	14120	690	24	4	122	4	SEMA4C	2	97526482	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	501700	97526482	145672891	265	69194											
TMEM131	23505	broad.mit.edu	37	chr2	98422128	98422128	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttaccttctgtgagaaGgaattcataatatttaaact	14	17	5	5	0	2	1	1	1	1	1	2	3	2	2	1	1	2	0	1	1	7	9			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:98422128G>A	ENST00000186436.5	-	20	2322	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	698						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCTGTGAGAAGGAATTCATAA	0.333													36	142					0	0	0	0	A	98422128	G	A	98422128	2	1	364	1	0	0	0	0	0	0	0	1	16138	987	35	4		4	TMEM131	2	98422128	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	895646	98422128	144777245	266	69195											
MAP4K4	9448	broad.mit.edu	37	chr2	102483019	102483019	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtctcagagtggctcCggggaacgcttcagagtgag	7	8	16	10	2	2	3	2	1	1	2	4	4	3	4	2	4	1	2	2	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:102483019C>T	ENST00000413150.2	+	17	1900	c.1845C>T	c.(1843-1845)tcC>tcT	p.S615S	MAP4K4_ENST00000350878.4_Silent_p.S673S|MAP4K4_ENST00000302217.5_Silent_p.S500S|MAP4K4_ENST00000324219.4_Silent_p.S778S|MAP4K4_ENST00000347699.4_Silent_p.S700S|MAP4K4_ENST00000350198.4_Silent_p.S616S|MAP4K4_ENST00000425019.1_Silent_p.S669S|MAP4K4_ENST00000456652.1_Silent_p.S499S	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	700					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGAGTGGCTCCGGGGAACGCT	0.542													17	37					0	0	0	0	T	102483019	C	T	102483019	2	4	364	1	0	0	0	0	0	0	0	1	9331	639	23	1		1	MAP4K4	2	102483019	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4060891	102483019	140716354	267	69196											
SLC9A4	389015	broad.mit.edu	37	chr2	103124678	103124678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcttcctctgtctctttttCctaggaagaaaatgtttgtc	7	18	7	9	0	2	1	0	0	2	1	6	2	4	2	2	1	1	2	2	1	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:103124678C>T	ENST00000295269.4	+	5	1796	c.1339C>T	c.(1339-1341)Cct>Tct	p.P447S		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	447					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						GTCTCTTTTTCCTAGGAAGAA	0.353													11	53					0	0	0	0	T	103124678	C	T	103124678	3	4	364	1	0	0	0	0	1	0	0	0	14804	855	30	2	1357	2	SLC9A4	2	103124678	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	641659	103124678	140074695	268	69197											
GPR45	11250	broad.mit.edu	37	chr2	105859166	105859166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctctgctggctgccccactCcgtctacagcctcctgtctg	3	11	8	19	1	3	0	0	0	3	0	5	0	5	0	6	1	4	2	6	1	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:105859166C>T	ENST00000258456.1	+	1	967	c.851C>T	c.(850-852)tCc>tTc	p.S284F		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	284						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CTGCCCCACTCCGTCTACAGC	0.587													44	149					0	0	0	0	T	105859166	C	T	105859166	3	4	364	1	0	0	0	0	1	0	0	0	6745	855	30	2	853	2	GPR45	2	105859166	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2734488	105859166	137340207	269	69198											
GPR45	11250	broad.mit.edu	37	chr2	105859281	105859281	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtccgtcttcaaccccatCgtctactgctggagaatcaa	11	10	7	13	2	4	1	2	0	2	1	6	2	5	1	3	1	3	1	3	1	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:105859281C>T	ENST00000258456.1	+	1	1082	c.966C>T	c.(964-966)atC>atT	p.I322I		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	322						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCAACCCCATCGTCTACTGCT	0.547													26	83					0	0	0	0	T	105859281	C	T	105859281	2	4	364	1	0	0	0	0	0	0	0	1	6745	874	31	1		1	GPR45	2	105859281	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	115	105859281	137340092	270	69199											
RGPD4	285190	broad.mit.edu	37	chr2	108455287	108455287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcagtggaattaaaccCaacacaaaaagatctggtgt	15	9	9	8	1	2	1	1	0	1	1	2	2	2	2	1	2	2	1	1	2	6	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108455287C>T	ENST00000408999.3	+	4	349	c.272C>T	c.(271-273)cCa>cTa	p.P91L	RGPD4_ENST00000354986.4_Missense_Mutation_p.P91L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	91					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GAATTAAACCCAACACAAAAA	0.299													34	31					0	0	0	0	T	108455287	C	T	108455287	3	4	364	1	0	0	0	0	1	0	0	0	13370	594	21	4	286	4	RGPD4	2	108455287	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2596006	108455287	134744086	271	69200											
SLC5A7	60482	broad.mit.edu	37	chr2	108614398	108614398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggagggctctattctgtgGcctacactgatgtcgttcag	6	13	13	9	1	3	1	1	1	2	0	4	2	3	2	1	3	1	2	1	3	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108614398G>T	ENST00000264047.2	+	5	829	c.553G>T	c.(553-555)Gcc>Tcc	p.A185S	SLC5A7_ENST00000540517.1_Missense_Mutation_p.A80S|SLC5A7_ENST00000409059.1_Missense_Mutation_p.A185S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	185					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTATTCTGTGGCCTACACTGA	0.453													85	125					7.7321e-48	8.07515e-48	1	0	T	108614398	G	T	108614398	3	4	364	1	0	0	0	0	1	0	0	0	14758	1203	42	4	567	4	SLC5A7	2	108614398	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	159111	108614398	134584975	272	69201											
SLC5A7	60482	broad.mit.edu	37	chr2	108626920	108626920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcttcctgagaataactgGaggggagccatatctgtatc	10	11	10	10	0	2	1	0	1	2	1	4	4	3	3	3	3	2	1	3	3	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108626920G>A	ENST00000264047.2	+	9	1622	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G344E|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G449E	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	449					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AGAATAACTGGAGGGGAGCCA	0.433													22	59					0	0	0	0	A	108626920	G	A	108626920	3	1	364	1	0	0	0	0	1	0	0	0	14758	1174	41	2	1376	2	SLC5A7	2	108626920	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	12522	108626920	134572453	273	69202											
SULT1C2	6819	broad.mit.edu	37	chr2	108917299	108917299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgagctattttaaaggtgtgGaaaaagccaaagcaatgccc	15	9	10	7	0	0	1	0	1	0	0	0	2	0	2	2	2	4	2	2	2	7	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108917299G>A	ENST00000251481.6	+	4	736	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000437390.2_Missense_Mutation_p.E109K|SULT1C2_ENST00000326853.5_Intron	NM_001056.3	NP_001047.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	95					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	p.E95K(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TAAAGGTGTGGAAAAAGCCAA	0.488													42	69					0	0	0	0	A	108917299	G	A	108917299	3	1	364	1	0	0	0	0	1	0	0	0	15467	1175	41	2	392	2	SULT1C2	2	108917299	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	290379	108917299	134282074	274	69203											
ACOXL	55289	broad.mit.edu	37	chr2	111851062	111851062	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgattacatcctttctgcAggagagatgctgaaacacaa	13	11	8	9	0	2	3	0	2	2	1	3	5	3	4	1	1	4	2	1	1	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:111851062A>C	ENST00000389811.4	+	19	1856		c.e19-1		ACOXL_ENST00000439055.1_Intron			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like						fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TCCTTTCTGCAGGAGAGATGC	0.398													11	21					0	0	0	0	C	111851062	A	C	111851062	5	2	364	1	0	0	0	0	0	0	1	0	161	203	7	5		5	ACOXL	2	111851062	Splice_Site	SNP	A	TCGA-D6-6516-01A-11D-1870-08	2933763	111851062	131348311	275	69204											
MYO7B	4648	broad.mit.edu	37	chr2	128366402	128366402	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggagaaggtgttcggcttCctccctgccatgattggggg	5	11	16	9	1	0	2	0	1	0	1	3	3	2	2	3	5	1	2	3	5	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:128366402C>T	ENST00000389524.4	+	22	2816	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	MYO7B_ENST00000409816.2_Silent_p.F921F|MYO7B_ENST00000428314.1_Silent_p.F921F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	921						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGTTCGGCTTCCTCCCTGCCA	0.627													16	11					0	0	0	0	T	128366402	C	T	128366402	2	4	364	1	0	0	0	0	0	0	0	1	10153	854	30	2		2	MYO7B	2	128366402	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	16515340	128366402	114832971	276	69205											
ACMSD	130013	broad.mit.edu	37	chr2	135659396	135659396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagccggcaatgccctggCatttttgggtcttgagagaa	10	10	12	9	1	1	2	0	1	1	1	1	3	1	2	2	3	2	2	2	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:135659396C>A	ENST00000356140.5	+	10	1113	c.977C>A	c.(976-978)gCa>gAa	p.A326E	AC016725.4_ENST00000537615.1_RNA|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Missense_Mutation_p.A268E|ACMSD_ENST00000392928.1_Missense_Mutation_p.A268E|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000428857.1_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	326					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AATGCCCTGGCATTTTTGGGT	0.294													17	51					6.33239e-15	6.53518e-15	1	0	A	135659396	C	A	135659396	3	1	364	1	0	0	0	0	1	0	0	0	144	710	25	4	1015	4	ACMSD	2	135659396	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	7292994	135659396	107539977	277	69206											
R3HDM1	23518	broad.mit.edu	37	chr2	136396634	136396634	+	Silent	SNP	C	C	T																															agcttcagtggaatctcagtCctgacaagaggtgatagttc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:136396634C>T	ENST00000264160.4	+	14	1531	c.1161C>T	c.(1159-1161)gtC>gtT	p.V387V	R3HDM1_ENST00000409606.1_Silent_p.V387V|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000329971.3_Silent_p.V343V|R3HDM1_ENST00000410054.1_Silent_p.V331V|R3HDM1_ENST00000409478.1_Silent_p.V343V	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	387							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GAATCTCAGTCCTGACAAGAG	0.458													34	103					0	0	0	0	T	136396634	C	T	136396634	2	4	364	1	0	0	0	0	0	0	0	1	12969	842	30	2		2	R3HDM1	2	136396634	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	737238	136396634	106802739	278	69207	862	2									
R3HDM1	23518	broad.mit.edu	37	chr2	136396635	136396635	+	Silent	SNP	C	C	T																															gcttcagtggaatctcagtcCtgacaagaggtgatagttct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:136396635C>T	ENST00000264160.4	+	14	1532	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L	R3HDM1_ENST00000409606.1_Silent_p.L388L|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000329971.3_Silent_p.L344L|R3HDM1_ENST00000410054.1_Silent_p.L332L|R3HDM1_ENST00000409478.1_Silent_p.L344L	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	388							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AATCTCAGTCCTGACAAGAGG	0.458													34	102					0	0	0	0	T	136396635	C	T	136396635	2	4	364	1	0	0	0	0	0	0	0	1	12969	680	24	4		4	R3HDM1	2	136396635	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	136396635	106802738	279	69208	862	2									
DARS	1615	broad.mit.edu	37	chr2	136681972	136681972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catacctgaaataattttagGagtttggatttccacaaaac	15	13	6	7	0	0	1	0	1	0	0	1	3	1	3	2	2	2	1	2	2	6	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:136681972G>A	ENST00000264161.4	-	8	876	c.661C>T	c.(661-663)Cct>Tct	p.P221S	DARS_ENST00000537273.1_Missense_Mutation_p.P121S	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	221					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ATAATTTTAGGAGTTTGGATT	0.328													3	31					0	0	0	0	A	136681972	G	A	136681972	3	1	364	1	0	0	0	0	1	0	0	0	4274	1174	41	2	880	2	DARS	2	136681972	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	285337	136681972	106517401	280	69209											
THSD7B	80731	broad.mit.edu	37	chr2	137872796	137872796	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggacccgtgtgtggcggtggGatccagacccgggaggtgta	6	7	19	9	3	0	1	0	0	0	1	1	4	1	4	3	6	0	1	3	6	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:137872796G>A	ENST00000409968.1	+	5	1480	c.1302G>A	c.(1300-1302)ggG>ggA	p.G434G	THSD7B_ENST00000413152.2_Silent_p.G403G|THSD7B_ENST00000272643.3_Silent_p.G434G|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGCGGTGGGATCCAGACCC	0.602													13	20					0	0	0	0	A	137872796	G	A	137872796	2	1	364	1	0	0	0	0	0	0	0	1	15974	1161	41	2		2	THSD7B	2	137872796	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1190824	137872796	105326577	281	69210											
LRP1B	53353	broad.mit.edu	37	chr2	141274580	141274580	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacatttgtgtttgttttgaActgtgataaaatatggaatg	12	17	9	3	0	0	2	0	2	0	0	0	3	0	3	0	1	1	2	0	1	5	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:141274580A>G	ENST00000389484.3	-	50	8998	c.8026_splice	c.e50-1	p.V2676_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2676					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGTTTTGAACTGTGATAAA	0.299										TSP Lung(27;0.18)			11	25					0	0	0	0	G	141274580	A	G	141274580	5	3	364	1	0	0	0	0	0	0	1	0	9019	57	2	5	5940	5	LRP1B	2	141274580	Splice_Site	SNP	A	TCGA-D6-6516-01A-11D-1870-08	3401784	141274580	101924793	282	69211											
LRP1B	53353	broad.mit.edu	37	chr2	141294269	141294269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgaataagcgttgcaggagGaatttttagctgcaagaaaa	15	9	11	6	2	0	1	0	0	0	1	0	4	0	3	1	2	4	4	1	2	7	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:141294269G>A	ENST00000389484.3	-	46	8494	c.7523C>T	c.(7522-7524)tCc>tTc	p.S2508F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2508					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTGCAGGAGGAATTTTTAGC	0.328										TSP Lung(27;0.18)			15	15					0	0	0	0	A	141294269	G	A	141294269	3	1	364	1	0	0	0	0	1	0	0	0	9019	1174	41	2	6460	2	LRP1B	2	141294269	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	19689	141294269	101905104	283	69212											
LRP1B	53353	broad.mit.edu	37	chr2	141751606	141751606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttccgtctaggcagtcatCgtcgccatcacatttccacc	7	11	7	16	3	3	0	2	0	1	0	7	0	5	0	4	1	0	2	4	1	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:141751606C>T	ENST00000389484.3	-	16	3573	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	868	LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGCAGTCATCGTCGCCATCA	0.438										TSP Lung(27;0.18)			15	89					0	0	0	0	T	141751606	C	T	141751606	3	4	364	1	0	0	0	0	1	0	0	0	9019	884	31	1	11501	1	LRP1B	2	141751606	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	457337	141751606	101447767	284	69213											
LYPD6B	130576	broad.mit.edu	37	chr2	150071213	150071213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgcctgggtctttgtgcttCcattgctgtgatgccaccat	4	16	10	11	0	1	1	0	1	1	0	2	1	2	1	4	1	4	2	4	1	0	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:150071213C>T	ENST00000409642.3	+	7	1014	c.613C>T	c.(613-615)Cca>Tca	p.P205S	LYPD6B_ENST00000409876.1_Missense_Mutation_p.P181S|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Missense_Mutation_p.P205S|LYPD6B_ENST00000409029.1_Missense_Mutation_p.P181S	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	181						anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						CTTTGTGCTTCCATTGCTGTG	0.507													39	134					0	0	0	0	T	150071213	C	T	150071213	3	4	364	1	0	0	0	0	1	0	0	0	9180	855	30	2	635	2	LYPD6B	2	150071213	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	8319607	150071213	93128160	285	69214											
RIF1	55183	broad.mit.edu	37	chr2	152320883	152320883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagatgtaagcataaaatctCcgatttgcgaaaaacaagat	19	9	7	6	2	1	2	0	0	1	2	2	4	1	2	1	0	3	2	1	0	7	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:152320883C>T	ENST00000243326.4	+	29	5332	c.4849C>T	c.(4849-4851)Ccg>Tcg	p.P1617S	RIF1_ENST00000444746.2_Missense_Mutation_p.P1617S|RIF1_ENST00000430328.2_Missense_Mutation_p.P1617S|RIF1_ENST00000453091.2_Missense_Mutation_p.P1617S|RIF1_ENST00000428287.2_Missense_Mutation_p.P1617S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1617					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CATAAAATCTCCGATTTGCGA	0.333													6	24					0	0	0	0	T	152320883	C	T	152320883	3	4	364	1	0	0	0	0	1	0	0	0	13442	855	30	2	4963	2	RIF1	2	152320883	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2249670	152320883	90878490	286	69215											
NEB	4703	broad.mit.edu	37	chr2	152534436	152534436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagacagctccaggtccatgGcgtcaggcaagtaggtgtaa	11	8	13	9	1	1	1	1	0	0	1	3	1	3	1	2	4	1	4	2	4	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:152534436G>A	ENST00000427231.2	-	33	3723	c.3521C>T	c.(3520-3522)gCc>gTc	p.A1174V	NEB_ENST00000172853.10_Missense_Mutation_p.A1174V|NEB_ENST00000409198.1_Missense_Mutation_p.A1174V|NEB_ENST00000397345.3_Missense_Mutation_p.A1174V|NEB_ENST00000603639.1_Missense_Mutation_p.A1174V|NEB_ENST00000604864.1_Missense_Mutation_p.A1174V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1174					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGGTCCATGGCGTCAGGCAA	0.453													13	52					0	0	0	0	A	152534436	G	A	152534436	3	1	364	1	0	0	0	0	1	0	0	0	10372	1203	42	4	22765	4	NEB	2	152534436	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	213553	152534436	90664937	287	69216											
BAZ2B	29994	broad.mit.edu	37	chr2	160206292	160206292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccaagaggagctggggtaGgtgaaggtgacttagatggt	11	9	17	4	0	0	4	0	2	0	2	1	5	1	5	1	6	1	2	1	6	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:160206292G>A	ENST00000392783.2	-	28	5285	c.4790C>T	c.(4789-4791)cCt>cTt	p.P1597L	BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1497L|BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1561L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1563L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGCTGGGGTAGGTGAAGGTGA	0.458													9	41					0	0	0	0	A	160206292	G	A	160206292	3	1	364	1	0	0	0	0	1	0	0	0	1336	1000	35	4	1756	4	BAZ2B	2	160206292	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	7671856	160206292	82993081	288	69217											
FIGN	55137	broad.mit.edu	37	chr2	164466247	164466247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagggggcccaccactgcttCctgacacaaatgagccacat	11	6	10	14	0	0	2	0	2	0	0	1	3	1	2	4	2	2	1	4	2	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:164466247C>T	ENST00000333129.3	-	3	2409	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	699						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACCACTGCTTCCTGACACAAA	0.517													19	34					0	0	0	0	T	164466247	C	T	164466247	3	4	364	1	0	0	0	0	1	0	0	0	5936	864	30	2	188	2	FIGN	2	164466247	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4259955	164466247	78733126	289	69218											
SCN1A	6323	broad.mit.edu	37	chr2	166866245	166866245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaccctcatcccttcaaatCgagataaggctcttagaggt	11	12	7	11	1	3	2	2	0	1	2	5	3	4	2	2	2	1	1	2	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:166866245C>T	ENST00000423058.2	-	20	4003	c.3986G>A	c.(3985-3987)cGa>cAa	p.R1329Q	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R1301Q|SCN1A_ENST00000303395.4_Missense_Mutation_p.R1329Q|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1318Q|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1329						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1318Q(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCCTTCAAATCGAGATAAGGC	0.363													31	32					0	0	0	0	T	166866245	C	T	166866245	3	4	364	1	0	0	0	0	1	0	0	0	14001	884	31	1	2071	1	SCN1A	2	166866245	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2399998	166866245	76333128	290	69219											
SCN7A	6332	broad.mit.edu	37	chr2	167298178	167298178	+	Missense_Mutation	SNP	C	C	T																															gaacaacaacaggaccaagtCtttcagggccacccatgagt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:167298178C>T	ENST00000409855.1	-	14	2011	c.1885G>A	c.(1885-1887)Gac>Aac	p.D629N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	629					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D629Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGGACCAAGTCTTTCAGGGCC	0.388													43	46					0	0	0	0	T	167298178	C	T	167298178	3	4	364	1	0	0	0	0	1	0	0	0	14010	913	32	2	3211	2	SCN7A	2	167298178	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	431933	167298178	75901195	291	69220	863	2									
SCN7A	6332	broad.mit.edu	37	chr2	167298179	167298179	+	Silent	SNP	T	T	C																															aacaacaacaggaccaagtcTttcagggccacccatgagtt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:167298179T>C	ENST00000409855.1	-	14	2010	c.1884A>G	c.(1882-1884)aaA>aaG	p.K628K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	628					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GGACCAAGTCTTTCAGGGCCA	0.388													43	46					0	0	0	0	C	167298179	T	C	167298179	2	2	364	1	0	0	0	0	0	0	0	1	14010	1606	56	5		5	SCN7A	2	167298179	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1	167298179	75901194	292	69221	863	2									
XIRP2	129446	broad.mit.edu	37	chr2	168105505	168105505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggacaacaaaatccaaaaCcttatatgagaaaatttaag	21	8	5	7	0	0	1	0	1	0	1	1	3	1	2	2	1	2	0	2	1	10	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:168105505C>T	ENST00000409195.1	+	9	7692	c.7603C>T	c.(7603-7605)Cct>Tct	p.P2535S	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2313S|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2535S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2360					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						AAATCCAAAACCTTATATGAG	0.338													47	83					0	0	0	0	T	168105505	C	T	168105505	3	4	364	1	0	0	0	0	1	0	0	0	17526	507	18	4	7633	4	XIRP2	2	168105505	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	807326	168105505	75093868	293	69222											
XIRP2	129446	broad.mit.edu	37	chr2	168115157	168115157	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgatgccagaaaatcatAaagaaaatttgaataagaat	22	9	7	3	0	1	6	1	2	0	4	1	6	1	6	1	0	1	0	1	0	9	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:168115157A>G	ENST00000409728.1	+	11	2289	c.2200A>G	c.(2200-2202)Aaa>Gaa	p.K734E	XIRP2_ENST00000409043.1_Missense_Mutation_p.K701E|XIRP2_ENST00000420519.1_Missense_Mutation_p.K734E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.K479E|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.K701E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	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						AGAAAATCATAAAGAAAATTT	0.299													11	26					0	0	0	0	G	168115157	A	G	168115157	3	3	364	1	0	0	0	0	1	0	0	0	17526	363	13	5	11518	5	XIRP2	2	168115157	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	9652	168115157	75084216	294	69223											
ABCB11	8647	broad.mit.edu	37	chr2	169783744	169783744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttccatgggaatttctttGgtgttgtctccatacttgat	6	19	8	8	0	2	1	0	1	2	0	4	2	3	2	2	2	1	1	2	2	2	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:169783744G>A	ENST00000263817.6	-	26	3664	c.3540C>T	c.(3538-3540)acC>acT	p.T1180T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1180	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GAATTTCTTTGGTGTTGTCTC	0.443													58	104					0	0	0	0	A	169783744	G	A	169783744	2	1	364	1	0	0	0	0	0	0	0	1	42	1335	47	4		4	ABCB11	2	169783744	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1668587	169783744	73415629	295	69224											
ABCB11	8647	broad.mit.edu	37	chr2	169824937	169824937	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccatggcttgagcttacCttaaactatcctggtagctc	8	12	8	13	0	0	1	0	1	0	0	2	1	1	1	4	2	4	4	4	2	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:169824937C>T	ENST00000263817.6	-	17	2199	c.2075_splice	c.e17+1	p.R692_splice		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	692					bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTGAGCTTACCTTAAACTATC	0.423													6	16					0	0	0	0	T	169824937	C	T	169824937	5	4	364	1	0	0	0	0	0	0	1	0	42	695	24	4	1938	4	ABCB11	2	169824937	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	41193	169824937	73374436	296	69225											
LRP2	4036	broad.mit.edu	37	chr2	170038707	170038707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgaagggcaagtcctctgGgattatcaaagcagaaggtg	12	8	15	6	0	2	2	1	1	1	1	3	3	3	3	1	4	1	2	1	4	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:170038707G>A	ENST00000263816.3	-	51	10253	c.9968C>T	c.(9967-9969)cCc>cTc	p.P3323L	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3323					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGTCCTCTGGGATTATCAAA	0.537													34	64					0	0	0	0	A	170038707	G	A	170038707	3	1	364	1	0	0	0	0	1	0	0	0	9020	1232	43	4	4115	4	LRP2	2	170038707	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	213770	170038707	73160666	297	69226											
ATF2	1386	broad.mit.edu	37	chr2	175962174	175962174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaaaacaacacacataccgGagtttctgtagtggatgtgg	14	10	10	7	1	1	0	0	0	1	0	1	2	1	2	1	3	3	2	1	3	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:175962174G>A	ENST00000264110.2	-	11	1274	c.976C>T	c.(976-978)Ccg>Tcg	p.P326S	ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409437.1_Missense_Mutation_p.P210S|ATF2_ENST00000426833.3_Missense_Mutation_p.P308S|ATF2_ENST00000409635.1_Missense_Mutation_p.P268S|ATF2_ENST00000345739.5_Missense_Mutation_p.P268S|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.P326S|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000538946.1_Missense_Mutation_p.P308S	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	326					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			ACACATACCGGAGTTTCTGTA	0.403													17	84					0	0	0	0	A	175962174	G	A	175962174	3	1	364	1	0	0	0	0	1	0	0	0	1084	1174	41	2	557	2	ATF2	2	175962174	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5923467	175962174	67237199	298	69227											
HOXD3	3232	broad.mit.edu	37	chr2	177033899	177033899	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagtgcacaatgcagaaGgctgcttactatgaaaaccc	13	8	9	11	0	0	3	0	2	0	1	0	3	0	3	2	1	5	4	2	1	6	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:177033899G>A	ENST00000468418.3	+	3	2147	c.57G>A	c.(55-57)aaG>aaA	p.K19K	HOXD3_ENST00000410016.1_Silent_p.K19K|HOXD3_ENST00000249440.3_Silent_p.K19K			P31249	HXD3_HUMAN	homeobox D3	19					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CAATGCAGAAGGCTGCTTACT	0.537													17	66					0	0	0	0	A	177033899	G	A	177033899	2	1	364	1	0	0	0	0	0	0	0	1	7373	991	35	4		4	HOXD3	2	177033899	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1071725	177033899	66165474	299	69228											
TTC30A	92104	broad.mit.edu	37	chr2	178482974	178482974	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctggccatcggtctcAttgtcgcctccactttcttc	4	15	7	15	2	2	1	1	1	2	0	7	1	3	1	4	2	0	0	4	2	0	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:178482974A>C	ENST00000355689.4	-	1	720	c.456T>G	c.(454-456)aaT>aaG	p.N152K	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	152					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CATCGGTCTCATTGTCGCCTC	0.577													30	115					0	0	0	0	C	178482974	A	C	178482974	3	2	364	1	0	0	0	0	1	0	0	0	16794	214	8	5	1545	5	TTC30A	2	178482974	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	1449075	178482974	64716399	300	69229											
TTN	7273	broad.mit.edu	37	chr2	179439624	179439624	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgggtcccaagagaaGgttacaaaatcagatgaaac	16	7	11	7	0	2	3	2	1	0	2	3	4	3	3	1	3	2	1	1	3	6	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179439624G>A	ENST00000589042.1	-	326	71459	c.71235C>T	c.(71233-71235)acC>acT	p.T23745T	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.T14680T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.T14805T|TTN_ENST00000591111.1_Silent_p.T22104T|TTN_ENST00000342992.6_Silent_p.T21177T|TTN_ENST00000342175.6_Silent_p.T14872T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22104	Fibronectin type-III 72.						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)			CCCAAGAGAAGGTTACAAAAT	0.453													14	18					0	0	0	0	A	179439624	G	A	179439624	2	1	364	1	0	0	0	0	0	0	0	1	16831	987	35	4		4	TTN	2	179439624	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	956650	179439624	63759749	301	69230											
TTN	7273	broad.mit.edu	37	chr2	179446509	179446509	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttgtatcatatactttaggGaaagccggtgggccaggagg	10	10	15	6	1	1	0	1	0	0	0	1	2	1	2	2	5	2	2	2	5	5	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179446509G>A	ENST00000589042.1	-	316	66710	c.66486C>T	c.(66484-66486)ttC>ttT	p.F22162F	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.F13097F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.F13222F|TTN_ENST00000591111.1_Silent_p.F20521F|TTN_ENST00000342992.6_Silent_p.F19594F|TTN_ENST00000342175.6_Silent_p.F13289F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20521	Fibronectin type-III 60.						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)			ATACTTTAGGGAAAGCCGGTG	0.438													4	18					0	0	0	0	A	179446509	G	A	179446509	2	1	364	1	0	0	0	0	0	0	0	1	16831	1165	41	2		2	TTN	2	179446509	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6885	179446509	63752864	302	69231											
TTN	7273	broad.mit.edu	37	chr2	179474103	179474103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaggcaggacaaatggttCttcttcttgaacttcaccct	10	12	8	11	0	4	2	1	1	3	1	4	3	4	3	1	3	1	2	1	3	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179474103C>T	ENST00000589042.1	-	273	52158	c.51934G>A	c.(51934-51936)Gaa>Aaa	p.E17312K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8247K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8372K|TTN_ENST00000591111.1_Missense_Mutation_p.E15671K|TTN_ENST00000342992.6_Missense_Mutation_p.E14744K|TTN_ENST00000342175.6_Missense_Mutation_p.E8439K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15671	Fibronectin type-III 25.						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)			ACAAATGGTTCTTCTTCTTGA	0.448													4	52					0	0	0	0	T	179474103	C	T	179474103	3	4	364	1	0	0	0	0	1	0	0	0	16831	922	32	2	56119	2	TTN	2	179474103	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	27594	179474103	63725270	303	69232											
TTN	7273	broad.mit.edu	37	chr2	179486278	179486278	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatcctcaaggtgagcGttctgaatgaccaggattct	10	10	10	11	1	3	3	1	3	2	0	4	4	4	4	3	2	2	2	3	2	2	2	rs72677223		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179486278G>A	ENST00000589042.1	-	245	45497	c.45273C>T	c.(45271-45273)aaC>aaT	p.N15091N	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.N6026N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.N6151N|TTN_ENST00000591111.1_Silent_p.N13450N|TTN_ENST00000342992.6_Silent_p.N12523N|TTN_ENST00000342175.6_Silent_p.N6218N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13450	Fibronectin type-III 9.						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)			CAAGGTGAGCGTTCTGAATGA	0.443													9	67					0	0	0	0	A	179486278	G	A	179486278	2	1	364	1	0	0	0	0	0	0	0	1	16831	1136	40	1		1	TTN	2	179486278	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	12175	179486278	63713095	304	69233											
TTN	7273	broad.mit.edu	37	chr2	179542597	179542597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcaaatagaacttcctcttCctgaggtagagctacaggaa	13	11	8	9	0	2	3	1	1	1	2	4	4	4	4	2	2	3	2	2	2	6	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179542597C>T	ENST00000589042.1	-	146	34266	c.34042G>A	c.(34042-34044)Gaa>Aaa	p.E11348K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11031K|TTN_ENST00000342992.6_Missense_Mutation_p.E10104K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11031	Glu-rich.|Pro-rich.						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)			ACTTCCTCTTCCTGAGGTAGA	0.383													22	82					0	0	0	0	T	179542597	C	T	179542597	3	4	364	1	0	0	0	0	1	0	0	0	16831	864	30	2	70355	2	TTN	2	179542597	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	56319	179542597	63656776	305	69234											
TTN	7273	broad.mit.edu	37	chr2	179590733	179590733	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgacttcagcatttttaagGgtttctactataggagggaa	11	14	10	6	0	2	1	1	1	1	0	2	3	2	3	0	3	2	2	0	3	5	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179590733G>A	ENST00000589042.1	-	70	20540	c.20316C>T	c.(20314-20316)acC>acT	p.T6772T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.T6455T|TTN_ENST00000342992.6_Silent_p.T5528T|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6455	Ig-like 49.						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)			CATTTTTAAGGGTTTCTACTA	0.403													9	55					0	0	0	0	A	179590733	G	A	179590733	2	1	364	1	0	0	0	0	0	0	0	1	16831	1219	43	4		4	TTN	2	179590733	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	48136	179590733	63608640	306	69235											
TTN	7273	broad.mit.edu	37	chr2	179594214	179594214	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcaaacggaggtgttccCgtaacttcacactccagctc	10	10	7	14	2	2	0	2	0	0	0	5	1	4	1	2	2	3	3	2	2	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179594214C>T	ENST00000589042.1	-	64	18893	c.18669G>A	c.(18667-18669)acG>acA	p.T6223T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.T5906T|TTN_ENST00000342992.6_Silent_p.T4979T|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5906	Ig-like 43.						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)			GAGGTGTTCCCGTAACTTCAC	0.448													16	101					0	0	0	0	T	179594214	C	T	179594214	2	4	364	1	0	0	0	0	0	0	0	1	16831	639	23	1		1	TTN	2	179594214	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3481	179594214	63605159	307	69236											
TTN	7273	broad.mit.edu	37	chr2	179605333	179605333	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtggataattcccttcAggttcagctaataaagtttt	11	15	8	7	0	2	0	2	0	0	0	3	2	3	1	1	2	1	3	1	2	4	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179605333A>T	ENST00000589042.1	-	48	12851	c.12627T>A	c.(12625-12627)ccT>ccA	p.P4209P	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P3846P|TTN_ENST00000359218.5_Silent_p.P3971P|TTN_ENST00000591111.1_Silent_p.P3892P|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Silent_p.P4038P|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3892							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)			AATTCCCTTCAGGTTCAGCTA	0.383													17	92					0	0	0	0	T	179605333	A	T	179605333	2	4	364	1	0	0	0	0	0	0	0	1	16831	175	7	5		5	TTN	2	179605333	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	11119	179605333	63594040	308	69237											
TTN	7273	broad.mit.edu	37	chr2	179616729	179616729	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaaaggcgtcacgtgtatcCctttctgaatgttcagattc	10	13	9	9	2	3	2	2	1	1	1	5	3	4	2	1	1	0	2	1	1	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179616729C>T	ENST00000360870.5	-	46	10620	c.10398G>A	c.(10396-10398)agG>agA	p.R3466R	TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3471							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)			CACGTGTATCCCTTTCTGAAT	0.358													68	138					0	0	0	0	T	179616729	C	T	179616729	2	4	364	1	0	0	0	0	0	0	0	1	16831	622	22	4		4	TTN	2	179616729	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	11396	179616729	63582644	309	69238											
CCDC141	285025	broad.mit.edu	37	chr2	179732821	179732821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtggagatggtctacacGggcttgcttttcctgagagc	6	13	13	9	1	2	2	0	1	2	2	3	4	3	2	1	3	3	2	1	3	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179732821G>A	ENST00000420890.2	-	16	2623	c.2506C>T	c.(2506-2508)Cgt>Tgt	p.R836C	CCDC141_ENST00000295723.5_Missense_Mutation_p.R261C	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	261	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGGTCTACACGGGCTTGCTTT	0.498													43	41					0	0	0	0	A	179732821	G	A	179732821	3	1	364	1	0	0	0	0	1	0	0	0	2800	1116	39	1	1878	1	CCDC141	2	179732821	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	116092	179732821	63466552	310	69239											
CCDC141	285025	broad.mit.edu	37	chr2	179742774	179742774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagctgccactgcttctcagCcgagtcagaacaatgcttgg	9	10	10	12	1	2	1	2	0	1	1	3	2	2	1	2	1	6	3	2	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179742774C>T	ENST00000420890.2	-	12	1933	c.1816G>A	c.(1816-1818)Gct>Act	p.A606T	CCDC141_ENST00000295723.5_Missense_Mutation_p.A31T|CCDC141_ENST00000409284.1_Missense_Mutation_p.A606T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	31							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCTTCTCAGCCGAGTCAGAA	0.368													21	79					0	0	0	0	T	179742774	C	T	179742774	3	4	364	1	0	0	0	0	1	0	0	0	2800	739	26	4	2584	4	CCDC141	2	179742774	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	9953	179742774	63456599	311	69240											
NEUROD1	4760	broad.mit.edu	37	chr2	182543494	182543494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgtctgcctcgtgctcctCgtcctgagaactgagacact	6	12	9	14	2	1	2	0	2	1	2	5	4	3	2	3	0	3	1	3	0	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:182543494C>T	ENST00000295108.3	-	2	551	c.94G>A	c.(94-96)Gag>Aag	p.E32K	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	32					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCGTGCTCCTCGTCCTGAGAA	0.577													9	20					0	0	0	0	T	182543494	C	T	182543494	3	4	364	1	0	0	0	0	1	0	0	0	10418	893	31	1	980	1	NEUROD1	2	182543494	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2800720	182543494	60655879	312	69241											
NCKAP1	10787	broad.mit.edu	37	chr2	183843628	183843628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgattgattcatcttcagGgcaaacagaaagattctgaa	15	11	9	6	0	4	5	2	3	2	2	4	6	4	5	0	1	1	1	0	1	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:183843628G>A	ENST00000360982.2	-	15	2133	c.1375C>T	c.(1375-1377)Cct>Tct	p.P459S	NCKAP1_ENST00000361354.3_Missense_Mutation_p.P453S	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	453					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCATCTTCAGGGCAAACAGAA	0.313													8	48					0	0	0	0	A	183843628	G	A	183843628	3	1	364	1	0	0	0	0	1	0	0	0	10291	1232	43	4	2101	4	NCKAP1	2	183843628	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1300134	183843628	59355745	313	69242											
ZNF804A	91752	broad.mit.edu	37	chr2	185802719	185802719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaagaagttgcaaaaatcGaaaggaactcagaacaaaca	22	4	7	8	1	1	2	1	0	0	2	2	4	1	3	0	1	4	2	0	1	8	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:185802719G>A	ENST00000302277.6	+	4	3190	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	866						intracellular	zinc ion binding	p.E866*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGCAAAAATCGAAAGGAACTC	0.353													19	40					0	0	0	0	A	185802719	G	A	185802719	3	1	364	1	0	0	0	0	1	0	0	0	18263	1059	37	1	2610	1	ZNF804A	2	185802719	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1959091	185802719	57396654	314	69243											
SLC40A1	30061	broad.mit.edu	37	chr2	190426734	190426734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtggcccattgccacaaagGagactgaaatcaatacgagc	14	7	10	10	1	1	2	1	1	0	1	1	4	1	2	2	2	3	0	2	2	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:190426734G>A	ENST00000261024.2	-	8	2012	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	529					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TGCCACAAAGGAGACTGAAAT	0.433													5	36					0	0	0	0	A	190426734	G	A	190426734	3	1	364	1	0	0	0	0	1	0	0	0	14716	1174	41	2	133	2	SLC40A1	2	190426734	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4624015	190426734	52772639	315	69244											
PGAP1	80055	broad.mit.edu	37	chr2	197729786	197729786	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacataagcaggaagagctcCaccatgaaatctaactacct	16	7	7	11	0	1	2	0	1	1	1	2	4	2	3	3	1	4	2	3	1	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:197729786C>A	ENST00000354764.3	-	20	1900	c.1786G>T	c.(1786-1788)Gga>Tga	p.G596*	PGAP1_ENST00000409475.1_Intron	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	596					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GGAAGAGCTCCACCATGAAAT	0.328													20	29					1.01871e-10	1.04417e-10	1	0	A	197729786	C	A	197729786	4	1	364	1	0	0	0	0	0	1	0	0	11849	603	21	4	1014	4	PGAP1	2	197729786	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	7303052	197729786	45469587	316	69245											
ANKRD44	91526	broad.mit.edu	37	chr2	197990587	197990587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgttcagagccgcatGgtgcaaggctgtgcgccccc	5	7	15	14	3	1	1	1	0	0	1	1	1	1	1	4	3	3	4	4	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:197990587G>A	ENST00000328737.2	-	5	437	c.361C>T	c.(361-363)Cat>Tat	p.H121Y	ANKRD44_ENST00000409153.1_Missense_Mutation_p.H146Y|ANKRD44_ENST00000450567.1_Missense_Mutation_p.H121Y|ANKRD44_ENST00000539527.1_Missense_Mutation_p.H74Y|ANKRD44_ENST00000282272.8_Missense_Mutation_p.H138Y|ANKRD44_ENST00000409919.1_Missense_Mutation_p.H146Y|ANKRD44_ENST00000337207.5_Missense_Mutation_p.H121Y			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	146							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGAGCCGCATGGTGCAAGGCT	0.537													15	88					0	0	0	0	A	197990587	G	A	197990587	3	1	364	1	0	0	0	0	1	0	0	0	671	1348	47	4	2486	4	ANKRD44	2	197990587	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	260801	197990587	45208786	317	69246											
SATB2	23314	broad.mit.edu	37	chr2	200173603	200173603	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggttcaggaagcgacggatGgtacagaggttttcccagag	11	8	15	7	2	1	2	1	0	0	2	2	5	2	4	1	5	2	3	1	5	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:200173603G>A	ENST00000443023.1	-	9	2908	c.1443C>T	c.(1441-1443)acC>acT	p.T481T	SATB2_ENST00000428695.1_Silent_p.T422T|SATB2_ENST00000417098.1_Silent_p.T540T|SATB2_ENST00000260926.5_Silent_p.T540T|SATB2_ENST00000457245.1_Silent_p.T540T			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	540						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCGACGGATGGTACAGAGGT	0.572													16	63					0	0	0	0	A	200173603	G	A	200173603	2	1	364	1	0	0	0	0	0	0	0	1	13940	1335	47	4		4	SATB2	2	200173603	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2183016	200173603	43025770	318	69247											
WDR12	55759	broad.mit.edu	37	chr2	203776182	203776182	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttatcagtgtagaagcgTgtttggagctgagccatggc	8	13	14	6	1	1	2	1	1	0	1	1	3	1	3	1	2	3	4	1	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:203776182T>A	ENST00000261015.3	-	1	767	c.18A>T	c.(16-18)acA>acT	p.T6T	WDR12_ENST00000477723.1_Intron	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	6					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TGTAGAAGCGTGTTTGGAGCT	0.522													16	56					0	0	0	0	A	203776182	T	A	203776182	2	1	364	1	0	0	0	0	0	0	0	1	17370	1683	59	5		5	WDR12	2	203776182	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	3602579	203776182	39423191	319	69248											
NBEAL1	65065	broad.mit.edu	37	chr2	204055018	204055018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcttctggttttaggagCtgtggatctggatgccttaa	7	16	11	7	0	3	0	0	0	3	0	3	3	3	3	1	4	2	2	1	4	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:204055018C>T	ENST00000449802.1	+	45	7073	c.6740C>T	c.(6739-6741)gCt>gTt	p.A2247V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2247	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTTTTAGGAGCTGTGGATCTG	0.383													37	75					0	0	0	0	T	204055018	C	T	204055018	3	4	364	1	0	0	0	0	1	0	0	0	10258	797	28	4	6914	4	NBEAL1	2	204055018	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	278836	204055018	39144355	320	69249											
PARD3B	117583	broad.mit.edu	37	chr2	206480250	206480250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctacaaggaaagggagcttCcctattatccaggggctcat	11	10	10	10	0	2	0	1	0	1	0	4	2	4	2	2	4	2	2	2	4	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:206480250C>T	ENST00000406610.2	+	23	3538	c.3331C>T	c.(3331-3333)Ccc>Tcc	p.P1111S	PARD3B_ENST00000349953.3_Missense_Mutation_p.P1010S|PARD3B_ENST00000358768.2_Missense_Mutation_p.P1049S|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000351153.1_Missense_Mutation_p.P1042S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1111					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGGGAGCTTCCCTATTATCC	0.577													12	74					0	0	0	0	T	206480250	C	T	206480250	3	4	364	1	0	0	0	0	1	0	0	0	11515	855	30	2	3421	2	PARD3B	2	206480250	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2425232	206480250	36719123	321	69250											
MAP2	4133	broad.mit.edu	37	chr2	210559487	210559487	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaacggacagtcagctcGaagacctgggctactgtgtg	12	8	12	9	2	1	1	1	0	0	1	2	3	1	2	1	2	3	2	1	2	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:210559487G>T	ENST00000360351.4	+	7	3099	c.2593G>T	c.(2593-2595)Gaa>Taa	p.E865*	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E861*	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	865					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAGTCAGCTCGAAGACCTGGG	0.468													31	46					1.55811e-20	1.6185e-20	1	0	T	210559487	G	T	210559487	4	4	364	1	0	0	0	0	0	1	0	0	9304	1059	37	3	2607	3	MAP2	2	210559487	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4079237	210559487	32639886	322	69251											
CPS1	1373	broad.mit.edu	37	chr2	211503916	211503916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccatcagtaacaaactatCtctatgttacctacaatggt	14	12	4	11	0	2	0	1	0	1	0	3	0	2	0	2	1	4	2	2	1	7	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:211503916C>G	ENST00000233072.5	+	23	3068	c.2872C>G	c.(2872-2874)Ctc>Gtc	p.L958V	CPS1_ENST00000451903.2_Missense_Mutation_p.L507V|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.L964V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	958					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AACAAACTATCTCTATGTTAC	0.313													3	25					0	0	0	0	G	211503916	C	G	211503916	3	3	364	1	0	0	0	0	1	0	0	0	3853	913	32	2	2984	2	CPS1	2	211503916	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	944429	211503916	31695457	323	69252											
SPAG16	79582	broad.mit.edu	37	chr2	214149396	214149396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggcgggtaatgggtgttgGgacgaaggcgagggcctccc	6	7	19	9	3	0	0	0	0	0	0	1	3	1	1	2	6	0	2	2	6	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:214149396G>A	ENST00000413312.1	+	1	257	c.11G>A	c.(10-12)gGg>gAg	p.G4E	SPAG16_ENST00000447990.1_Intron|SPAG16_ENST00000432529.2_Intron|SPAG16_ENST00000331683.5_Intron|SPAG16_ENST00000272898.7_Intron			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	0					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ATGGGTGTTGGGACGAAGGCG	0.672													3	9					0	0	0	0	A	214149396	G	A	214149396	3	1	364	1	0	0	0	0	1	0	0	0	15068	1247	43	4		4	SPAG16	2	214149396	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2645480	214149396	29049977	324	69253											
BARD1	580	broad.mit.edu	37	chr2	215610516	215610516	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactgagcattttctgttgTtctgaagacagcccactgcc	8	13	8	12	0	3	3	1	2	2	1	3	3	3	3	2	0	3	3	2	0	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:215610516T>C	ENST00000260947.4	-	8	1874	c.1740A>G	c.(1738-1740)gaA>gaG	p.E580E	BARD1_ENST00000449967.2_Silent_p.E436E	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	580	BRCT 1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTCTGTTGTTCTGAAGACA	0.403									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				39	170					0	0	0	0	C	215610516	T	C	215610516	2	2	364	1	0	0	0	0	0	0	0	1	1316	1722	60	5		5	BARD1	2	215610516	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1461120	215610516	27588857	325	69254											
FN1	2335	broad.mit.edu	37	chr2	216269261	216269261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgcctgggctgtcctcttCgggtaaggcccacggtcagt	5	10	13	13	2	2	0	1	0	1	0	4	0	3	0	3	4	1	2	3	4	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:216269261C>T	ENST00000354785.4	-	20	3473	c.3104G>A	c.(3103-3105)cGa>cAa	p.R1035Q	FN1_ENST00000336916.4_Missense_Mutation_p.R1035Q|FN1_ENST00000323926.6_Missense_Mutation_p.R1035Q|FN1_ENST00000359671.1_Missense_Mutation_p.R1035Q|FN1_ENST00000345488.5_Missense_Mutation_p.R1035Q|FN1_ENST00000421182.1_Missense_Mutation_p.R1035Q|FN1_ENST00000357009.2_Missense_Mutation_p.R1035Q|FN1_ENST00000446046.1_Missense_Mutation_p.R1035Q|FN1_ENST00000432072.2_Missense_Mutation_p.R1035Q|FN1_ENST00000443816.1_Missense_Mutation_p.R1035Q|FN1_ENST00000346544.3_Missense_Mutation_p.R1035Q|FN1_ENST00000356005.4_Missense_Mutation_p.R1035Q|FN1_ENST00000357867.4_Missense_Mutation_p.R1035Q			P02751	FINC_HUMAN	fibronectin 1	1035	Fibronectin type-III 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTCCTCTTCGGGTAAGGCC	0.552													17	50					0	0	0	0	T	216269261	C	T	216269261	3	4	364	1	0	0	0	0	1	0	0	0	6007	884	31	1	4437	1	FN1	2	216269261	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	658745	216269261	26930112	326	69255											
IGFBP5	3488	broad.mit.edu	37	chr2	217542855	217542855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttctcttgtagaatcCtttgcggtcacaattgggca	7	15	9	10	1	2	1	1	0	1	1	4	1	3	1	1	2	2	3	1	2	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:217542855C>T	ENST00000233813.4	-	3	1416	c.667G>A	c.(667-669)Gga>Aga	p.G223R		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	223	Thyroglobulin type-1.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTAGAATCCTTTGCGGTCA	0.602													10	63					0	0	0	0	T	217542855	C	T	217542855	3	4	364	1	0	0	0	0	1	0	0	0	7635	690	24	4	159	4	IGFBP5	2	217542855	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1273594	217542855	25656518	327	69256											
TNS1	7145	broad.mit.edu	37	chr2	218712421	218712421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcaggcaaggaggaagagGctgggctctttgaatggaaa	13	6	17	5	0	1	2	0	1	1	1	1	5	1	5	0	7	0	4	0	7	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:218712421G>A	ENST00000171887.4	-	17	2896	c.2444C>T	c.(2443-2445)gCc>gTc	p.A815V	TNS1_ENST00000430930.1_Missense_Mutation_p.A815V|TNS1_ENST00000419504.1_Missense_Mutation_p.A815V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	815						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGAGGAAGAGGCTGGGCTCTT	0.597													29	36					0	0	0	0	A	218712421	G	A	218712421	3	1	364	1	0	0	0	0	1	0	0	0	16437	1203	42	4	2831	4	TNS1	2	218712421	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1169566	218712421	24486952	328	69257											
PNKD	25953	broad.mit.edu	37	chr2	219208288	219208288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acactgtgctggggctagggGatgacacccttctgtggcct	6	10	14	11	0	1	1	0	1	1	0	1	2	1	2	2	5	1	2	2	5	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219208288G>A	ENST00000273077.4	+	8	898	c.847G>A	c.(847-849)Gat>Aat	p.D283N	PNKD_ENST00000258362.3_Missense_Mutation_p.D259N|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Missense_Mutation_p.D223N	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	283						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCTAGGGGATGACACCCT	0.632													6	13					0	0	0	0	A	219208288	G	A	219208288	3	1	364	1	0	0	0	0	1	0	0	0	12218	1174	41	2	1242	2	PNKD	2	219208288	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	495867	219208288	23991085	329	69258											
VIL1	7429	broad.mit.edu	37	chr2	219292994	219292994	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaccgaggggatgttttcctCctggaccttgggaagcttat	8	12	12	9	1	0	0	0	0	0	0	2	4	2	3	4	4	2	2	4	4	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219292994C>T	ENST00000248444.5	+	6	589	c.501C>T	c.(499-501)ctC>ctT	p.L167L	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.L167L	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	167	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGTTTTCCTCCTGGACCTTG	0.552													11	56					0	0	0	0	T	219292994	C	T	219292994	2	4	364	1	0	0	0	0	0	0	0	1	17260	842	30	2		2	VIL1	2	219292994	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	84706	219292994	23906379	330	69259											
ZNF142	7701	broad.mit.edu	37	chr2	219508571	219508571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttctttctgagtagaacagGgcacttcttcagcaggtggg	8	12	13	8	0	4	2	1	1	3	1	4	2	4	2	0	3	2	4	0	3	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219508571G>A	ENST00000411696.2	-	7	3447	c.2668C>T	c.(2668-2670)Cct>Tct	p.P890S	ZNF142_ENST00000449707.1_Missense_Mutation_p.P890S			P52746	ZN142_HUMAN	zinc finger protein 142	890					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGTAGAACAGGGCACTTCTTC	0.607													21	124					0	0	0	0	A	219508571	G	A	219508571	3	1	364	1	0	0	0	0	1	0	0	0	17826	1232	43	4	2407	4	ZNF142	2	219508571	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	215577	219508571	23690802	331	69260											
RNF25	64320	broad.mit.edu	37	chr2	219536676	219536676	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcccctgcagctgcAgacgcagacgccgccatatc	7	7	8	19	3	0	2	0	0	0	2	4	2	3	2	6	0	3	4	6	0	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219536676A>G	ENST00000295704.2	-	1	458	c.18T>C	c.(16-18)tcT>tcC	p.S6S		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	6					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCAGCTGCAGACGCAGACG	0.622													6	15					0	0	0	0	G	219536676	A	G	219536676	2	3	364	1	0	0	0	0	0	0	0	1	13570	175	7	5		5	RNF25	2	219536676	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	28105	219536676	23662697	332	69261											
CCDC108	255101	broad.mit.edu	37	chr2	219892419	219892419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccgtgtaaaggcagttggGgtgaggcggctggaagtgca	9	7	18	7	2	0	1	0	1	0	0	0	2	0	2	1	6	1	5	1	6	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219892419G>A	ENST00000341552.5	-	13	2247	c.2164C>T	c.(2164-2166)Ccc>Tcc	p.P722S	CCDC108_ENST00000410037.1_Missense_Mutation_p.P657S|CCDC108_ENST00000441968.1_Missense_Mutation_p.P722S|CCDC108_ENST00000409865.3_Missense_Mutation_p.P711S|CCDC108_ENST00000453220.1_Missense_Mutation_p.P722S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	722						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCAGTTGGGGTGAGGCGGC	0.612													14	83					0	0	0	0	A	219892419	G	A	219892419	3	1	364	1	0	0	0	0	1	0	0	0	2768	1232	43	4	3705	4	CCDC108	2	219892419	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	355743	219892419	23306954	333	69262											
FAM134A	79137	broad.mit.edu	37	chr2	220047121	220047121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccctccccttccattctcCcacctgttccccaggactca	5	10	3	23	0	2	0	1	0	1	0	6	1	5	1	9	1	0	1	9	1	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:220047121C>T	ENST00000430297.2	+	9	1538	c.1402C>T	c.(1402-1404)Cca>Tca	p.P468S		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	468						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCATTCTCCCACCTGTTCC	0.627													27	60					0	0	0	0	T	220047121	C	T	220047121	3	4	364	1	0	0	0	0	1	0	0	0	5486	623	22	4	1436	4	FAM134A	2	220047121	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	154702	220047121	23152252	334	69263											
SPEG	10290	broad.mit.edu	37	chr2	220356873	220356873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctatgagccagacccccagGaaacggaggctcggattgtg	10	7	13	11	2	1	2	0	1	1	1	2	5	1	5	3	4	2	1	3	4	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:220356873G>A	ENST00000312358.7	+	40	9634	c.9502G>A	c.(9502-9504)Gaa>Aaa	p.E3168K	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3168	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGACCCCCAGGAAACGGAGGC	0.582													13	32					0	0	0	0	A	220356873	G	A	220356873	3	1	364	1	0	0	0	0	1	0	0	0	15126	1175	41	2	9672	2	SPEG	2	220356873	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	309752	220356873	22842500	335	69264											
OBSL1	23363	broad.mit.edu	37	chr2	220422771	220422771	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctcagcaccactggctcCccaggggccacacagagcgg	9	3	12	17	1	1	1	1	0	0	1	2	1	2	1	4	4	3	3	4	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:220422771C>T	ENST00000404537.1	-	11	3620	c.3564G>A	c.(3562-3564)ggG>ggA	p.G1188G	OBSL1_ENST00000265318.4_Silent_p.G1096G|OBSL1_ENST00000265317.5_Silent_p.G179G|OBSL1_ENST00000603926.1_Silent_p.G1188G|OBSL1_ENST00000373876.1_Silent_p.G1188G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1188	Ig-like 10.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCACTGGCTCCCCAGGGGCCA	0.642													5	26					0	0	0	0	T	220422771	C	T	220422771	2	4	364	1	0	0	0	0	0	0	0	1	10884	610	22	4		4	OBSL1	2	220422771	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	65898	220422771	22776602	336	69265											
EPHA4	2043	broad.mit.edu	37	chr2	222301166	222301166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcaagcactcgggacaTgccaaaatcagacactttgc	13	8	7	13	1	2	1	2	0	0	1	4	2	3	2	2	1	3	1	2	1	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:222301166T>C	ENST00000281821.2	-	13	2340	c.2299A>G	c.(2299-2301)Atg>Gtg	p.M767V	EPHA4_ENST00000409938.1_Missense_Mutation_p.M767V|EPHA4_ENST00000409854.1_Missense_Mutation_p.M767V|EPHA4_ENST00000392071.4_Missense_Mutation_p.M716V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	767	Protein kinase.					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)		ACTCGGGACATGCCAAAATCA	0.488													20	23					0	0	0	0	C	222301166	T	C	222301166	3	2	364	1	0	0	0	0	1	0	0	0	5207	1464	51	5	681	5	EPHA4	2	222301166	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1878395	222301166	20898207	337	69266											
EPHA4	2043	broad.mit.edu	37	chr2	222308288	222308288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctcgcactgcttggttggGatcttcgtacgtaaaggggt	6	13	13	9	3	2	0	0	0	2	0	4	1	2	1	0	4	2	5	0	4	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:222308288G>A	ENST00000281821.2	-	10	1854	c.1813C>T	c.(1813-1815)Ccc>Tcc	p.P605S	EPHA4_ENST00000409938.1_Missense_Mutation_p.P605S|EPHA4_ENST00000409854.1_Missense_Mutation_p.P605S|EPHA4_ENST00000392071.4_Missense_Mutation_p.P554S	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	605						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)		GCTTGGTTGGGATCTTCGTAC	0.398													26	43					0	0	0	0	A	222308288	G	A	222308288	3	1	364	1	0	0	0	0	1	0	0	0	5207	1174	41	2	1179	2	EPHA4	2	222308288	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	7122	222308288	20891085	338	69267											
WDFY1	57590	broad.mit.edu	37	chr2	224760271	224760271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcctccgatgtcccaCatgatgatgctgttgtcaga	7	14	8	12	1	1	3	1	2	0	1	5	4	5	3	4	0	1	2	4	0	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:224760271C>A	ENST00000233055.4	-	7	777	c.675G>T	c.(673-675)atG>atT	p.M225I		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	225						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CGATGTCCCACATGATGATGC	0.552													11	61					6.42651e-13	6.60462e-13	1	0	A	224760271	C	A	224760271	3	1	364	1	0	0	0	0	1	0	0	0	17364	478	17	4	581	4	WDFY1	2	224760271	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2451983	224760271	18439102	339	69268											
COL4A4	1286	broad.mit.edu	37	chr2	227985823	227985823	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgggtcctggggctcccagGggtccaattggaccctgtgg	5	9	16	11	0	0	0	0	0	0	0	3	1	3	1	4	7	0	1	4	7	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:227985823G>A	ENST00000396625.3	-	5	441	c.234C>T	c.(232-234)ccC>ccT	p.P78P	COL4A4_ENST00000329662.7_Silent_p.P78P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	78	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGCTCCCAGGGGTCCAATTG	0.547													6	32					0	0	0	0	A	227985823	G	A	227985823	2	1	364	1	0	0	0	0	0	0	0	1	3723	1219	43	4		4	COL4A4	2	227985823	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3225552	227985823	15213550	340	69269											
COL4A3	1285	broad.mit.edu	37	chr2	228172461	228172461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggattgccaggtttgaaaGgaaaacgtggagacagtgga	14	8	15	4	1	0	2	0	1	0	1	0	6	0	5	1	5	2	1	1	5	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:228172461G>A	ENST00000396578.3	+	48	4450	c.4288G>A	c.(4288-4290)Gga>Aga	p.G1430R	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1430	Epitope recognized by Goodpasture antibodies.|Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGTTTGAAAGGAAAACGTGG	0.433													16	66					0	0	0	0	A	228172461	G	A	228172461	3	1	364	1	0	0	0	0	1	0	0	0	3721	1001	35	4	4478	4	COL4A3	2	228172461	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	186638	228172461	15026912	341	69270											
AGFG1	3267	broad.mit.edu	37	chr2	228398379	228398379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtcatcaaacagcatcagCtgttagtaaagtttcaacga	15	10	8	8	1	4	0	4	0	0	0	4	2	4	0	0	0	4	5	0	0	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:228398379C>T	ENST00000310078.7	+	7	1189	c.929C>T	c.(928-930)gCt>gTt	p.A310V	AGFG1_ENST00000409979.2_Missense_Mutation_p.A334V|AGFG1_ENST00000373671.3_Missense_Mutation_p.A270V|AGFG1_ENST00000409315.1_Missense_Mutation_p.A310V|AGFG1_ENST00000409171.1_Missense_Mutation_p.A310V	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	310					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						ACAGCATCAGCTGTTAGTAAA	0.398													31	51					0	0	0	0	T	228398379	C	T	228398379	3	4	364	1	0	0	0	0	1	0	0	0	380	797	28	4	1031	4	AGFG1	2	228398379	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	225918	228398379	14800994	342	69271											
SPHKAP	80309	broad.mit.edu	37	chr2	228883697	228883697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaggccttgttaaaaccaGagcagcctccttgagcaatc	12	10	8	11	0	0	2	0	1	0	1	2	2	1	2	4	1	4	3	4	1	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:228883697G>A	ENST00000392056.3	-	7	1919	c.1873C>T	c.(1873-1875)Ctg>Ttg	p.L625L	SPHKAP_ENST00000344657.5_Silent_p.L625L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	625						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTAAAACCAGAGCAGCCTCC	0.502													7	28					0	0	0	0	A	228883697	G	A	228883697	2	1	364	1	0	0	0	0	0	0	0	1	15138	933	33	2		2	SPHKAP	2	228883697	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	485318	228883697	14315676	343	69272											
TRIP12	9320	broad.mit.edu	37	chr2	230643188	230643198	+	Frame_Shift_Del	DEL	TAAGAAGCGAA	TAAGAAGCGAA	-																															gccttggccattaattttccTaagaagcgaaacttcatctt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:230643188_230643198delTAAGAAGCGAA	ENST00000283943.5	-	35	5268_5278	c.5090_5100delTTCGCTTCTTA	c.(5089-5100)tfs	p.FRFL1697fs	TRIP12_ENST00000389045.3_Frame_Shift_Del_p.FRFL1427fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.FRFL1745fs	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1697					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTAATTTTCCTAAGAAGCGAAACTTCATCTT	0.427													12	115	---	---	---	---					-	230643198	TAAGAAGCGAA	-	230643188	7	5	364	1	0	1	0	1	0	0	0	0	16651	1519	53	0	906	0	TRIP12	2	230643188	Frame_Shift_Del	DEL	TAAGAAGCGAA	TCGA-D6-6516-01A-11D-1870-08	1759491	230643188	12556185	344	69273											
NEU2	4759	broad.mit.edu	37	chr2	233899488	233899488	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccgctcggggcctggctcCccagcccagtggctgctcta	3	7	12	19	2	1	0	0	0	1	0	3	0	2	0	6	4	2	4	6	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:233899488C>T	ENST00000233840.3	+	2	864	c.864C>T	c.(862-864)tcC>tcT	p.S288S		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	288							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GGCCTGGCTCCCCAGCCCAGT	0.697													9	46					0	0	0	0	T	233899488	C	T	233899488	2	4	364	1	0	0	0	0	0	0	0	1	10412	610	22	4		4	NEU2	2	233899488	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3256300	233899488	9299885	345	69274											
ARL4C	10123	broad.mit.edu	37	chr2	235404769	235404769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgccggctggacgtgataGgtggtggccgggataagctc	7	7	17	10	4	0	1	0	1	0	0	1	3	0	3	2	6	1	2	2	6	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:235404769G>A	ENST00000390645.2	-	1	928	c.462C>T	c.(460-462)acC>acT	p.T154T	ARL4C_ENST00000339728.3_Silent_p.T154T	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	154					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		GGACGTGATAGGTGGTGGCCG	0.622													6	32					0	0	0	0	A	235404769	G	A	235404769	2	1	364	1	0	0	0	0	0	0	0	1	941	987	35	4		4	ARL4C	2	235404769	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1505281	235404769	7794604	346	69275											
AGAP1	116987	broad.mit.edu	37	chr2	236708049	236708049	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttaagcgactattcctcCtccgttccatcgactcccag	8	12	6	15	3	0	0	0	0	0	0	6	2	5	0	5	0	1	2	5	0	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:236708049C>T	ENST00000409538.1	+	8	2131	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S	AGAP1_ENST00000409457.1_Silent_p.S280S|AGAP1_ENST00000304032.7_Silent_p.S280S|AGAP1_ENST00000428334.2_Silent_p.S119S|AGAP1_ENST00000336665.5_Silent_p.S280S			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	280	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACTATTCCTCCTCCGTTCCAT	0.512													17	61					0	0	0	0	T	236708049	C	T	236708049	2	4	364	1	0	0	0	0	0	0	0	1	366	668	24	4		4	AGAP1	2	236708049	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1303280	236708049	6491324	347	69276											
IQCA1	79781	broad.mit.edu	37	chr2	237272434	237272434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatccataccttgaagactgCatgcagcatcatttggaggc	12	10	9	10	0	1	2	1	1	0	1	2	3	2	3	2	2	4	3	2	2	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:237272434C>T	ENST00000409907.3	-	15	2132	c.1858G>A	c.(1858-1860)Gca>Aca	p.A620T	IQCA1_ENST00000431676.2_Missense_Mutation_p.A579T|IQCA1_ENST00000309507.5_Missense_Mutation_p.A617T			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	620							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTGAAGACTGCATGCAGCATC	0.448													17	112					0	0	0	0	T	237272434	C	T	237272434	3	4	364	1	0	0	0	0	1	0	0	0	7855	710	25	4	630	4	IQCA1	2	237272434	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	564385	237272434	5926939	348	69277											
PER2	8864	broad.mit.edu	37	chr2	239170870	239170870	+	Missense_Mutation	SNP	C	C	T																															ccaatgatgaaggagattttCctgctccatgggttgatgaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:239170870C>T	ENST00000254658.3	-	10	1398	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	PER2_ENST00000355768.2_Missense_Mutation_p.E388K|PER2_ENST00000440245.1_Silent_p.R423R|PER2_ENST00000254657.3_Silent_p.R423R			O15055	PER2_HUMAN	period circadian clock 2	376					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AGGAGATTTTCCTGCTCCATG	0.592													13	43					0	0	0	0	T	239170870	C	T	239170870	3	4	364	1	0	0	0	0	1	0	0	0	11801	854	30	2	2550	2	PER2	2	239170870	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1898436	239170870	4028503	349	69278	864	2									
PER2	8864	broad.mit.edu	37	chr2	239170871	239170871	+	Missense_Mutation	SNP	C	C	T																															caatgatgaaggagattttcCtgctccatgggttgatgaag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:239170871C>T	ENST00000254657.3	-	11	1547	c.1268G>A	c.(1267-1269)aGg>aAg	p.R423K	PER2_ENST00000355768.2_Silent_p.Q387Q|PER2_ENST00000440245.1_Missense_Mutation_p.R423K|PER2_ENST00000254658.3_Silent_p.Q387Q	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	423	PAC.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGAGATTTTCCTGCTCCATGG	0.592													13	45					0	0	0	0	T	239170871	C	T	239170871	3	4	364	1	0	0	0	0	1	0	0	0	11801	681	24	4	2551	4	PER2	2	239170871	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	239170871	4028502	350	69279	864	2									
HDLBP	3069	broad.mit.edu	37	chr2	242178142	242178142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggattctggaacctttggGgcccatgacagatcgatgga	9	10	13	9	1	1	2	0	1	1	1	2	6	1	5	2	5	1	0	2	5	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:242178142G>A	ENST00000391975.1	-	20	2898	c.2671C>T	c.(2671-2673)Ccc>Tcc	p.P891S	HDLBP_ENST00000310931.4_Missense_Mutation_p.P891S|HDLBP_ENST00000427183.2_Missense_Mutation_p.P858S|HDLBP_ENST00000391976.2_Missense_Mutation_p.P891S	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	891	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GAACCTTTGGGGCCCATGACA	0.473													65	317					0	0	0	0	A	242178142	G	A	242178142	3	1	364	1	0	0	0	0	1	0	0	0	7075	1232	43	4	1171	4	HDLBP	2	242178142	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3007271	242178142	1021231	351	69280											
THAP4	51078	broad.mit.edu	37	chr2	242576370	242576370	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtacctgtggaaggagacGgcgcgcttctcgccctttcc	5	9	13	14	5	1	1	0	0	1	1	3	3	2	2	3	3	1	2	3	3	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:242576370G>C	ENST00000407315.1	-	1	494	c.63C>G	c.(61-63)gcC>gcG	p.A21A		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	21							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGAAGGAGACGGCGCGCTTCT	0.776													6	8					0	0	0	0	C	242576370	G	C	242576370	2	2	364	1	0	0	0	0	0	0	0	1	15940	1103	39	3		3	THAP4	2	242576370	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	398228	242576370	623003	352	69281											
CHL1	10752	broad.mit.edu	37	chr3	383653	383653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccaaaagggagatctataCttcgcaaacgtggaagaaaa	18	6	10	7	2	1	2	0	0	1	2	2	4	1	3	1	2	3	1	1	2	8	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:383653C>T	ENST00000256509.2	+	7	1209	c.567C>T	c.(565-567)taC>taT	p.Y189Y	CHL1_ENST00000397491.2_Silent_p.Y189Y	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	189	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GAGATCTATACTTCGCAAACG	0.383													4	17					0	0	0	0	T	383653	C	T	383653	2	4	364	1	0	0	0	0	0	0	0	1	3378	576	20	4		4	CHL1	3	383653	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08		383653	197638777	353	69282											
CNTN4	152330	broad.mit.edu	37	chr3	2777999	2777999	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaagctcaattgtgaagtTaaaggaaatccaaaacctca	17	9	8	7	0	2	2	2	2	0	0	3	3	3	3	2	1	2	2	2	1	8	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:2777999T>A	ENST00000397461.1	+	4	540	c.156T>A	c.(154-156)gtT>gtA	p.V52V	CNTN4_ENST00000418658.1_Silent_p.V52V|CNTN4_ENST00000427331.1_Silent_p.V52V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	52	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTGTGAAGTTAAAGGAAATC	0.343													17	52					0	0	0	0	A	2777999	T	A	2777999	2	1	364	1	0	0	0	0	0	0	0	1	3673	1741	61	5		5	CNTN4	3	2777999	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	2394346	2777999	195244431	354	69283											
SUMF1	285362	broad.mit.edu	37	chr3	4461817	4461817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttcacaggtaaccaccagGgagcagctgcaacctcaaag	13	6	9	13	0	2	0	2	0	0	0	2	1	2	1	3	2	5	4	3	2	3	2	rs113185435		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:4461817G>A	ENST00000272902.5	-	4	568	c.533C>T	c.(532-534)cCc>cTc	p.P178L	SUMF1_ENST00000383843.5_Missense_Mutation_p.P153L|SUMF1_ENST00000534863.1_Missense_Mutation_p.P178L|SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000405420.2_Missense_Mutation_p.P178L	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	178						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		TAACCACCAGGGAGCAGCTGC	0.483													9	30					0	0	0	0	A	4461817	G	A	4461817	3	1	364	1	0	0	0	0	1	0	0	0	15475	1232	43	4	615	4	SUMF1	3	4461817	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1683818	4461817	193560613	355	69284											
ITPR1	3708	broad.mit.edu	37	chr3	4808218	4808218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggattttcctttgcagcactCctttttctgtcgcttgacag	5	17	8	11	1	1	1	0	1	1	0	4	2	3	2	2	1	2	3	2	1	0	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:4808218C>T	ENST00000354582.6	+	44	5854	c.5504C>T	c.(5503-5505)tCc>tTc	p.S1835F	ITPR1_ENST00000357086.4_Missense_Mutation_p.S1802F|ITPR1_ENST00000423119.2_Missense_Mutation_p.S1802F|ITPR1_ENST00000302640.8_Missense_Mutation_p.S1835F|ITPR1_ENST00000456211.2_Missense_Mutation_p.S1787F|ITPR1_ENST00000443694.2_Missense_Mutation_p.S1835F|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1850					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTGCAGCACTCCTTTTTCTGT	0.428													9	45					0	0	0	0	T	4808218	C	T	4808218	3	4	364	1	0	0	0	0	1	0	0	0	7973	855	30	2	5719	2	ITPR1	3	4808218	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	346401	4808218	193214212	356	69285											
ITPR1	3708	broad.mit.edu	37	chr3	4836803	4836803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctttctggagcagcatttCgtttaacctggccgtcctga	6	14	10	11	2	2	1	0	1	2	0	4	2	3	2	3	2	3	3	3	2	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:4836803C>T	ENST00000354582.6	+	52	7168	c.6818C>T	c.(6817-6819)tCg>tTg	p.S2273L	ITPR1_ENST00000357086.4_Missense_Mutation_p.S2240L|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2240L|ITPR1_ENST00000302640.8_Missense_Mutation_p.S2273L|ITPR1_ENST00000456211.2_Missense_Mutation_p.S2225L|ITPR1_ENST00000443694.2_Missense_Mutation_p.S2273L|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2288					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGCAGCATTTCGTTTAACCTG	0.527													4	27					0	0	0	0	T	4836803	C	T	4836803	3	4	364	1	0	0	0	0	1	0	0	0	7973	893	31	1	7065	1	ITPR1	3	4836803	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	28585	4836803	193185627	357	69286											
RPUSD3	285367	broad.mit.edu	37	chr3	9882388	9882388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagcacctctcaccagtagGtggctgtgggcctttgggct	5	10	13	13	0	1	0	1	0	1	0	2	0	1	0	4	4	1	4	4	4	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:9882388G>A	ENST00000383820.5	-	5	510	c.509C>T	c.(508-510)aCc>aTc	p.T170I	RPUSD3_ENST00000433535.2_Missense_Mutation_p.T155I|RPUSD3_ENST00000424438.1_Missense_Mutation_p.T138I|TTLL3_ENST00000455274.1_Intron	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	170					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					TCACCAGTAGGTGGCTGTGGG	0.597													8	35					0	0	0	0	A	9882388	G	A	9882388	3	1	364	1	0	0	0	0	1	0	0	0	13753	1261	44	4	566	4	RPUSD3	3	9882388	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5045585	9882388	188140042	358	69287											
CRELD1	78987	broad.mit.edu	37	chr3	9982847	9982847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgaggaatcaaactgtttGcaatgcaagaagggctgggc	12	8	13	8	0	1	2	1	1	0	1	1	3	1	3	1	3	3	4	1	3	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:9982847G>T	ENST00000383811.3	+	6	1289	c.690G>T	c.(688-690)ttG>ttT	p.L230F	CRELD1_ENST00000326434.5_Missense_Mutation_p.L230F|CRELD1_ENST00000397170.3_Missense_Mutation_p.L230F|CRELD1_ENST00000452070.1_Missense_Mutation_p.L230F|CRELD1_ENST00000489674.1_3'UTR	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	230					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CAAACTGTTTGCAATGCAAGA	0.592													21	58					1.9806e-07	2.01484e-07	1	0	T	9982847	G	T	9982847	3	4	364	1	0	0	0	0	1	0	0	0	3896	1310	46	4	712	4	CRELD1	3	9982847	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	100459	9982847	188039583	359	69288											
TIMP4	7079	broad.mit.edu	37	chr3	12198975	12198975	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctcactggagattttggcCcgaatcactgcataggaaga	11	11	10	9	1	2	2	2	0	1	2	3	5	2	3	1	3	1	1	1	3	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:12198975C>T	ENST00000287814.4	-	2	657	c.147G>A	c.(145-147)cgG>cgA	p.R49R	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	49	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGATTTTGGCCCGAATCACTG	0.493													14	36					0	0	0	0	T	12198975	C	T	12198975	2	4	364	1	0	0	0	0	0	0	0	1	16014	610	22	4		4	TIMP4	3	12198975	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2216128	12198975	185823455	360	69289											
NUP210	23225	broad.mit.edu	37	chr3	13407500	13407500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcaggtggacgtggccGtgtctgtagctcacaagaag	9	8	14	10	2	3	1	2	0	1	1	3	2	3	2	1	3	1	3	1	3	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:13407500G>A	ENST00000254508.5	-	14	1960	c.1878C>T	c.(1876-1878)caC>caT	p.H626H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	626					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGACGTGGCCGTGTCTGTAGC	0.637													9	34					0	0	0	0	A	13407500	G	A	13407500	2	1	364	1	0	0	0	0	0	0	0	1	10831	1136	40	1		1	NUP210	3	13407500	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1208525	13407500	184614930	361	69290											
TBC1D5	9779	broad.mit.edu	37	chr3	17226675	17226675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaactgcccttgaaggaagGaaatttgggcttctaattct	11	13	9	8	0	3	1	1	1	2	0	3	3	3	3	1	3	2	1	1	3	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:17226675G>A	ENST00000253692.7	-	19	3442	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	TBC1D5_ENST00000446818.2_Missense_Mutation_p.S615F|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.S567F|TBC1D5_ENST00000429383.4_Missense_Mutation_p.S593F	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	593						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TTGAAGGAAGGAAATTTGGGC	0.368													7	39					0	0	0	0	A	17226675	G	A	17226675	3	1	364	1	0	0	0	0	1	0	0	0	15717	1174	41	2	625	2	TBC1D5	3	17226675	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3819175	17226675	180795755	362	69291											
KAT2B	8850	broad.mit.edu	37	chr3	20113935	20113935	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaacagaatcctgtcggagTtgtagccatgccctaggtga	10	10	11	10	1	0	2	0	1	0	1	2	3	1	3	3	2	3	2	3	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:20113935T>C	ENST00000263754.4	+	2	869	c.414T>C	c.(412-414)agT>agC	p.S138S	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	138					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CCTGTCGGAGTTGTAGCCATG	0.458													21	85					0	0	0	0	C	20113935	T	C	20113935	2	2	364	1	0	0	0	0	0	0	0	1	8035	1722	60	5		5	KAT2B	3	20113935	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	2887260	20113935	177908495	363	69292											
RARB	5915	broad.mit.edu	37	chr3	25542804	25542804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgctttgaagtgggaatGtccaaagaatgtaagtggag	14	10	14	3	0	0	2	0	1	0	1	1	4	1	4	1	2	1	2	1	2	6	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:25542804G>T	ENST00000330688.4	+	3	859	c.438G>T	c.(436-438)atG>atT	p.M146I	RARB_ENST00000404969.1_Missense_Mutation_p.M153I|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Missense_Mutation_p.M34I|RARB_ENST00000458646.1_Missense_Mutation_p.M34I	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	153					embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AAGTGGGAATGTCCAAAGAAT	0.403													10	20					7.48243e-07	7.60035e-07	1	0	T	25542804	G	T	25542804	3	4	364	1	0	0	0	0	1	0	0	0	13135	1377	48	4	448	4	RARB	3	25542804	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5428869	25542804	172479626	364	69293											
RBMS3	27303	broad.mit.edu	37	chr3	29938882	29938882	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcagattttattcttcAccgtacagtattgcaaccaa	11	15	6	9	1	2	1	1	0	1	1	2	1	2	1	2	0	4	5	2	0	5	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:29938882A>C	ENST00000434693.2	+	9	1501	c.801A>C	c.(799-801)tcA>tcC	p.S267S	RBMS3_ENST00000452462.1_Silent_p.S268S|RBMS3_ENST00000383766.2_Silent_p.S267S|RBMS3_ENST00000383767.2_Silent_p.S268S|RBMS3_ENST00000456853.1_Silent_p.S281S|RBMS3_ENST00000273139.9_Silent_p.S268S|RBMS3_ENST00000396583.3_Silent_p.S281S	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	268						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TTTATTCTTCACCGTACAGTA	0.433													31	93					0	0	0	0	C	29938882	A	C	29938882	2	2	364	1	0	0	0	0	0	0	0	1	13232	146	6	5		5	RBMS3	3	29938882	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	4396078	29938882	168083548	365	69294											
CCR4	1233	broad.mit.edu	37	chr3	32995339	32995339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctggcaattgtgcacgCggtgttttccttgagggcaa	8	12	12	9	2	0	1	0	1	0	0	1	1	1	1	2	3	2	4	2	3	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:32995339C>T	ENST00000330953.5	+	2	593	c.425C>T	c.(424-426)gCg>gTg	p.A142V		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	142					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						ATTGTGCACGCGGTGTTTTCC	0.488													40	126					0	0	0	0	T	32995339	C	T	32995339	3	4	364	1	0	0	0	0	1	0	0	0	2972	768	27	1	427	1	CCR4	3	32995339	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3056457	32995339	165027091	366	69295											
GLB1	2720	broad.mit.edu	37	chr3	33058317	33058317	+	Missense_Mutation	SNP	G	G	A																															gatcacattgtttcgctcaaGgactccctgggggatctgtg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33058317G>A	ENST00000307363.5	-	14	1507	c.1363C>T	c.(1363-1365)Ctt>Ttt	p.L455F	GLB1_ENST00000399402.3_Missense_Mutation_p.L425F|GLB1_ENST00000445488.2_Missense_Mutation_p.L503F|GLB1_ENST00000307377.8_Missense_Mutation_p.L324F|GLB1_ENST00000497796.1_5'UTR	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	455					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTTCGCTCAAGGACTCCCTGG	0.478													14	60					0	0	0	0	A	33058317	G	A	33058317	3	1	364	1	0	0	0	0	1	0	0	0	6478	1000	35	4	682	4	GLB1	3	33058317	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	62978	33058317	164964113	367	69296	865	2									
GLB1	2720	broad.mit.edu	37	chr3	33058318	33058318	+	Silent	SNP	G	G	A																															atcacattgtttcgctcaagGactccctgggggatctgtgg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33058318G>A	ENST00000307363.5	-	14	1506	c.1362C>T	c.(1360-1362)gtC>gtT	p.V454V	GLB1_ENST00000399402.3_Silent_p.V424V|GLB1_ENST00000445488.2_Silent_p.V502V|GLB1_ENST00000307377.8_Silent_p.V323V|GLB1_ENST00000497796.1_5'UTR	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	454					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTCGCTCAAGGACTCCCTGGG	0.483													14	58					0	0	0	0	A	33058318	G	A	33058318	2	1	364	1	0	0	0	0	0	0	0	1	6478	1161	41	2		2	GLB1	3	33058318	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	33058318	164964112	368	69297	865	2									
GLB1	2720	broad.mit.edu	37	chr3	33109732	33109732	+	Silent	SNP	G	G	A																															aacaacctacctgggtcggaGgagcggagaagaatagactc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33109732G>A	ENST00000307363.5	-	4	591	c.447C>T	c.(445-447)tcC>tcT	p.S149S	GLB1_ENST00000399402.3_Silent_p.S119S|GLB1_ENST00000445488.2_Silent_p.S197S|GLB1_ENST00000307377.8_Intron	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	149			S -> F (in MPS4B; 2.0% of wild-type enzyme activity).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CTGGGTCGGAGGAGCGGAGAA	0.488													14	52					0	0	0	0	A	33109732	G	A	33109732	2	1	364	1	0	0	0	0	0	0	0	1	6478	987	35	4		4	GLB1	3	33109732	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	51414	33109732	164912698	369	69298	866	2									
GLB1	2720	broad.mit.edu	37	chr3	33109733	33109733	+	Missense_Mutation	SNP	G	G	A																															acaacctacctgggtcggagGagcggagaagaatagactct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33109733G>A	ENST00000307363.5	-	4	590	c.446C>T	c.(445-447)tCc>tTc	p.S149F	GLB1_ENST00000399402.3_Missense_Mutation_p.S119F|GLB1_ENST00000445488.2_Missense_Mutation_p.S197F|GLB1_ENST00000307377.8_Intron	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	149			S -> F (in MPS4B; 2.0% of wild-type enzyme activity).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TGGGTCGGAGGAGCGGAGAAG	0.488													15	51					0	0	0	0	A	33109733	G	A	33109733	3	1	364	1	0	0	0	0	1	0	0	0	6478	1174	41	2	1639	2	GLB1	3	33109733	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	33109733	164912697	370	69299	866	2									
SUSD5	26032	broad.mit.edu	37	chr3	33194670	33194670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgagctcataggacaggGtggccatgggagattcctct	8	10	15	8	0	2	2	1	1	1	1	3	4	3	3	2	5	1	1	2	5	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33194670G>A	ENST00000309558.3	-	5	1871	c.1454C>T	c.(1453-1455)aCc>aTc	p.T485I		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	485					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATAGGACAGGGTGGCCATGGG	0.522													7	30					0	0	0	0	A	33194670	G	A	33194670	3	1	364	1	0	0	0	0	1	0	0	0	15501	1261	44	4	439	4	SUSD5	3	33194670	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	84937	33194670	164827760	371	69300											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37033026	37033026	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtattcattccaaagatTagtgtttgcctgaagttttg	9	18	8	6	0	2	2	1	1	1	1	3	2	3	2	2	0	1	3	2	0	4	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:37033026T>C	ENST00000322716.5	-	1	1769	c.1543A>G	c.(1543-1545)Aat>Gat	p.N515D		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	515						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TTCCAAAGATTAGTGTTTGCC	0.383													6	13					0	0	0	0	C	37033026	T	C	37033026	3	2	364	1	0	0	0	0	1	0	0	0	5222	1754	61	5	284	5	EPM2AIP1	3	37033026	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	3838356	37033026	160989404	372	69301											
DLEC1	9940	broad.mit.edu	37	chr3	38087117	38087117	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagcacgggctattgcGgaaaatgagcgggtcatgag	11	6	15	9	3	1	2	1	2	0	0	1	3	1	3	1	3	3	2	1	3	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38087117G>A	ENST00000308059.6	+	2	516	c.495G>A	c.(493-495)gcG>gcA	p.A165A	DLEC1_ENST00000452631.2_Silent_p.A165A|DLEC1_ENST00000346219.3_Silent_p.A165A			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	165					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GGGCTATTGCGGAAAATGAGC	0.542													11	41					0	0	0	0	A	38087117	G	A	38087117	2	1	364	1	0	0	0	0	0	0	0	1	4589	1103	39	1		1	DLEC1	3	38087117	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1054091	38087117	159935313	373	69302											
XYLB	9942	broad.mit.edu	37	chr3	38409713	38409713	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctttgctgcttccctgtTccttggctcttactccccta	3	17	6	15	0	1	0	0	0	1	0	4	0	4	0	4	1	4	5	4	1	3	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38409713T>C	ENST00000207870.3	+	8	701	c.611T>C	c.(610-612)tTc>tCc	p.F204S	XYLB_ENST00000542835.1_Missense_Mutation_p.F67S	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	204					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GCTTCCCTGTTCCTTGGCTCT	0.517													29	82					0	0	0	0	C	38409713	T	C	38409713	3	2	364	1	0	0	0	0	1	0	0	0	17558	1783	62	5	641	5	XYLB	3	38409713	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	322596	38409713	159612717	374	69303											
SCN5A	6331	broad.mit.edu	37	chr3	38639322	38639322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgcacatagtgatggtgagGtcagtaaacgggtccatgac	12	9	13	7	1	1	3	1	3	0	0	2	3	2	3	1	3	2	2	1	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38639322G>T	ENST00000413689.1	-	14	2353	c.2160C>A	c.(2158-2160)gaC>gaA	p.D720E	SCN5A_ENST00000449557.2_Missense_Mutation_p.D720E|SCN5A_ENST00000455624.2_Missense_Mutation_p.D720E|SCN5A_ENST00000425664.1_Missense_Mutation_p.D720E|SCN5A_ENST00000451551.2_Missense_Mutation_p.D720E|SCN5A_ENST00000333535.4_Missense_Mutation_p.D720E|SCN5A_ENST00000450102.2_Missense_Mutation_p.D720E|SCN5A_ENST00000443581.1_Missense_Mutation_p.D720E|SCN5A_ENST00000414099.2_Missense_Mutation_p.D720E|SCN5A_ENST00000423572.2_Missense_Mutation_p.D720E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	720					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGATGGTGAGGTCAGTAAACG	0.547													6	54					0.00116845	0.00117846	1	0	T	38639322	G	T	38639322	3	4	364	1	0	0	0	0	1	0	0	0	14009	1252	44	4	3950	4	SCN5A	3	38639322	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	229609	38639322	159383108	375	69304											
SCN10A	6336	broad.mit.edu	37	chr3	38739520	38739520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actcaggggctcagtgctctCctccgtggccacattgaagt	7	10	11	13	1	3	1	2	1	1	0	5	1	4	1	3	3	1	2	3	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38739520C>T	ENST00000449082.2	-	27	5190	c.5191G>A	c.(5191-5193)Gag>Aag	p.E1731K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1731					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCAGTGCTCTCCTCCGTGGCC	0.478													10	40					0	0	0	0	T	38739520	C	T	38739520	3	4	364	1	0	0	0	0	1	0	0	0	13999	864	30	2	683	2	SCN10A	3	38739520	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	100198	38739520	159282910	376	69305											
SCN10A	6336	broad.mit.edu	37	chr3	38743591	38743591	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcaaagacaaaaccctGgaacttgttctgagaaaaca	17	8	8	8	0	2	2	1	1	1	2	2	5	2	3	1	1	3	1	1	1	6	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38743591G>A	ENST00000449082.2	-	26	4395	c.4396C>T	c.(4396-4398)Cag>Tag	p.Q1466*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1466					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACAAAACCCTGGAACTTGTTC	0.463													7	30					0	0	0	0	A	38743591	G	A	38743591	4	1	364	1	0	0	0	0	0	1	0	0	13999	1357	47	4	1482	4	SCN10A	3	38743591	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4071	38743591	159278839	377	69306											
SCN10A	6336	broad.mit.edu	37	chr3	38748836	38748836	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatggcattgtagtatttCttctgctcctctgtcatgaa	7	18	7	9	0	5	1	2	1	3	0	6	1	6	1	1	1	1	4	1	1	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38748836C>T	ENST00000449082.2	-	25	4319	c.4320G>A	c.(4318-4320)aaG>aaA	p.K1440K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1440					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGTAGTATTTCTTCTGCTCCT	0.537													47	100					0	0	0	0	T	38748836	C	T	38748836	2	4	364	1	0	0	0	0	0	0	0	1	13999	912	32	2		2	SCN10A	3	38748836	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5245	38748836	159273594	378	69307											
CCR3	1232	broad.mit.edu	37	chr3	46306731	46306731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgctctgtgaaaaagctGataccagagcactgatggcc	11	8	11	11	0	1	4	0	3	1	1	1	4	1	4	3	1	4	3	3	1	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:46306731G>A	ENST00000357422.2	+	4	625	c.82G>A	c.(82-84)Gat>Aat	p.D28N	CCR3_ENST00000545097.1_Missense_Mutation_p.D49N|CCR3_ENST00000395942.2_Missense_Mutation_p.D28N|CCR3_ENST00000541018.1_Missense_Mutation_p.D28N|CCR3_ENST00000395940.2_Missense_Mutation_p.D28N			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	28					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TGAAAAAGCTGATACCAGAGC	0.502													6	21					0	0	0	0	A	46306731	G	A	46306731	3	1	364	1	0	0	0	0	1	0	0	0	2971	1290	45	2	151	2	CCR3	3	46306731	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	7557895	46306731	151715699	379	69308											
NBEAL2	23218	broad.mit.edu	37	chr3	47037517	47037517	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catctggtcaagacagcaccCcttcgctgcccctccctcag	7	8	7	19	1	3	1	2	0	1	1	5	1	4	1	5	1	2	2	5	1	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:47037517C>T	ENST00000450053.3	+	15	2306	c.2127C>T	c.(2125-2127)ccC>ccT	p.P709P	NBEAL2_ENST00000292309.5_Silent_p.P709P|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	709							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGACAGCACCCCTTCGCTGCC	0.607													4	11					0	0	0	0	T	47037517	C	T	47037517	2	4	364	1	0	0	0	0	0	0	0	1	10259	610	22	4		4	NBEAL2	3	47037517	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	730786	47037517	150984913	380	69309											
KLHL18	23276	broad.mit.edu	37	chr3	47378140	47378140	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtggtgaacgggcttctCtatgccatcggaggatatga	8	11	14	8	2	1	2	0	2	1	0	3	4	1	4	1	4	2	2	1	4	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:47378140C>T	ENST00000232766.5	+	7	1034	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	KLHL18_ENST00000455924.2_Silent_p.L226L	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	338										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ACGGGCTTCTCTATGCCATCG	0.592													15	26					0	0	0	0	T	47378140	C	T	47378140	2	4	364	1	0	0	0	0	0	0	0	1	8425	900	32	2		2	KLHL18	3	47378140	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	340623	47378140	150644290	381	69310											
PLXNB1	5364	broad.mit.edu	37	chr3	48447184	48447184	+	Missense_Mutation	SNP	C	C	T																															ttcatgcagggccactcgcgCcccgaggtctccggagtagt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48447184C>T	ENST00000358536.4	-	37	6519	c.6250G>A	c.(6250-6252)Gcg>Acg	p.A2084T	PLXNB1_ENST00000448774.2_Missense_Mutation_p.A695T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A1901T|PLXNB1_ENST00000358459.4_Missense_Mutation_p.A1901T|PLXNB1_ENST00000296440.6_Missense_Mutation_p.A2084T	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2084					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCACTCGCGCCCCGAGGTCT	0.612													9	25					0	0	0	0	T	48447184	C	T	48447184	3	4	364	1	0	0	0	0	1	0	0	0	12195	739	26	4	165	4	PLXNB1	3	48447184	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1069044	48447184	149575246	382	69311	867	2									
PLXNB1	5364	broad.mit.edu	37	chr3	48447185	48447185	+	Silent	SNP	C	C	T																															tcatgcagggccactcgcgcCccgaggtctccggagtagtt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48447185C>T	ENST00000358536.4	-	37	6518	c.6249G>A	c.(6247-6249)ggG>ggA	p.G2083G	PLXNB1_ENST00000448774.2_Silent_p.G694G|PLXNB1_ENST00000456774.1_Silent_p.G1900G|PLXNB1_ENST00000358459.4_Silent_p.G1900G|PLXNB1_ENST00000296440.6_Silent_p.G2083G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2083					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACTCGCGCCCCGAGGTCTC	0.612													10	24					0	0	0	0	T	48447185	C	T	48447185	2	4	364	1	0	0	0	0	0	0	0	1	12195	610	22	4		4	PLXNB1	3	48447185	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	48447185	149575245	383	69312	867	2									
CELSR3	1951	broad.mit.edu	37	chr3	48677667	48677667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgtggcagggtgctgccCcgatctttgggctccagtcg	3	10	14	14	3	1	0	0	0	1	0	4	1	3	0	4	3	2	3	4	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48677667C>T	ENST00000544264.1	-	35	9646	c.9366G>A	c.(9364-9366)cgG>cgA	p.R3122R	CELSR3_ENST00000164024.4_Silent_p.R3117R			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3117					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGTGCTGCCCCGATCTTTGG	0.677													19	33					0	0	0	0	T	48677667	C	T	48677667	2	4	364	1	0	0	0	0	0	0	0	1	3252	610	22	4		4	CELSR3	3	48677667	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	230482	48677667	149344763	384	69313											
CELSR3	1951	broad.mit.edu	37	chr3	48681721	48681721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgaggagaaacatggtcCcgttcatctggacccacggc	10	6	12	13	3	2	1	1	0	1	1	3	4	3	2	2	4	2	1	2	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48681721C>T	ENST00000544264.1	-	28	8388	c.8108G>A	c.(8107-8109)gGg>gAg	p.G2703E	CELSR3_ENST00000164024.4_Missense_Mutation_p.G2698E			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2698					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAACATGGTCCCGTTCATCTG	0.607													11	30					0	0	0	0	T	48681721	C	T	48681721	3	4	364	1	0	0	0	0	1	0	0	0	3252	623	22	4	1881	4	CELSR3	3	48681721	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4054	48681721	149340709	385	69314											
CELSR3	1951	broad.mit.edu	37	chr3	48685393	48685393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtagcgacgggccccccggGgagaactggggtgctccatg	6	5	18	12	3	0	1	0	0	0	1	1	3	1	1	4	6	3	2	4	6	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48685393G>A	ENST00000544264.1	-	21	7305	c.7025C>T	c.(7024-7026)cCc>cTc	p.P2342L	CELSR3_ENST00000164024.4_Missense_Mutation_p.P2337L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2337					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCCCCGGGGAGAACTGGG	0.617													33	92					0	0	0	0	A	48685393	G	A	48685393	3	1	364	1	0	0	0	0	1	0	0	0	3252	1232	43	4	2992	4	CELSR3	3	48685393	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3672	48685393	149337037	386	69315											
HYAL3	8372	broad.mit.edu	37	chr3	50332191	50332191	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgaggcggacataggccagGacaggcaggggatgtcggtg	9	5	20	7	2	0	1	0	1	0	0	1	4	0	4	1	8	0	1	1	8	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:50332191G>A	ENST00000336307.1	-	2	1115	c.843C>T	c.(841-843)gtC>gtT	p.V281V	HYAL3_ENST00000415204.1_Silent_p.V32V|HYAL3_ENST00000513170.1_Silent_p.V32V|HYAL3_ENST00000359051.3_Silent_p.V281V|HYAL3_ENST00000450982.1_Silent_p.V281V	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	281					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CATAGGCCAGGACAGGCAGGG	0.637													17	43					0	0	0	0	A	50332191	G	A	50332191	2	1	364	1	0	0	0	0	0	0	0	1	7518	1161	41	2		2	HYAL3	3	50332191	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1646798	50332191	147690239	387	69316											
DOCK3	1795	broad.mit.edu	37	chr3	51394395	51394395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgtgtgcccctaggtGgaggtgagccctctggagaa	6	10	16	9	0	1	2	0	1	1	1	1	4	1	3	3	4	3	1	3	4	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:51394395G>A	ENST00000266037.9	+	44	4529	c.4506G>A	c.(4504-4506)gtG>gtA	p.V1502V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1502	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCCCCTAGGTGGAGGTGAGCC	0.517													4	10					0	0	0	0	A	51394395	G	A	51394395	2	1	364	1	0	0	0	0	0	0	0	1	4724	1335	47	4		4	DOCK3	3	51394395	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1062204	51394395	146628035	388	69317											
STAB1	23166	broad.mit.edu	37	chr3	52544384	52544384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggctgagtgtgtccctgggtCcctgggcacccaccactgca	5	8	13	15	0	0	1	0	1	0	0	2	1	2	1	4	3	1	3	4	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52544384C>T	ENST00000321725.6	+	25	2724	c.2648C>T	c.(2647-2649)tCc>tTc	p.S883F		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	883	EGF-like 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTCCCTGGGTCCCTGGGCACC	0.602													14	46					0	0	0	0	T	52544384	C	T	52544384	3	4	364	1	0	0	0	0	1	0	0	0	15327	855	30	2	2746	2	STAB1	3	52544384	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1149989	52544384	145478046	389	69318											
STAB1	23166	broad.mit.edu	37	chr3	52554682	52554682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgcagcatctgtgggctgGagccaccctgtcctgagggg	5	8	15	13	0	1	1	0	1	1	0	2	2	2	2	4	4	3	3	4	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52554682G>A	ENST00000321725.6	+	54	5750	c.5674G>A	c.(5674-5676)Gag>Aag	p.E1892K		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1892					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGTGGGCTGGAGCCACCCTG	0.647													25	60					0	0	0	0	A	52554682	G	A	52554682	3	1	364	1	0	0	0	0	1	0	0	0	15327	1175	41	2	5888	2	STAB1	3	52554682	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	10298	52554682	145467748	390	69319											
PBRM1	55193	broad.mit.edu	37	chr3	52676029	52676029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtgccattgtaattgctGataaacgacctccttgtact	11	13	8	9	1	0	1	0	1	0	0	1	3	1	1	3	0	4	3	3	0	5	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52676029G>A	ENST00000356770.4	-	9	934	c.932C>T	c.(931-933)tCa>tTa	p.S311L	PBRM1_ENST00000410007.1_Missense_Mutation_p.S343L|PBRM1_ENST00000409114.3_Missense_Mutation_p.S343L|PBRM1_ENST00000409057.1_Missense_Mutation_p.S343L|PBRM1_ENST00000394830.3_Missense_Mutation_p.S343L|PBRM1_ENST00000296302.7_Missense_Mutation_p.S343L|PBRM1_ENST00000337303.4_Missense_Mutation_p.S343L|PBRM1_ENST00000409767.1_Missense_Mutation_p.S343L			Q86U86	PB1_HUMAN	polybromo 1	343					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGTAATTGCTGATAAACGACC	0.368			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								37	144					0	0	0	0	A	52676029	G	A	52676029	3	1	364	1	0	0	0	0	1	0	0	0	11562	1294	45	2	3956	2	PBRM1	3	52676029	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	121347	52676029	145346401	391	69320											
ITIH3	3699	broad.mit.edu	37	chr3	52836770	52836770	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggactacatcttcgggaatTacattgagcggctctgggcc	8	10	13	10	2	2	1	0	1	2	0	3	3	2	3	1	4	3	1	1	4	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52836770T>C	ENST00000449956.2	+	13	1663	c.1657T>C	c.(1657-1659)Tac>Cac	p.Y553H	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	553					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTCGGGAATTACATTGAGCG	0.617													6	24					0	0	0	0	C	52836770	T	C	52836770	3	2	364	1	0	0	0	0	1	0	0	0	7958	1754	61	5	1707	5	ITIH3	3	52836770	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	160741	52836770	145185660	392	69321											
RFT1	91869	broad.mit.edu	37	chr3	53157826	53157826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggaaggcctctctggccagGaagagggtggttgagtaaag	10	7	17	7	1	1	2	0	1	1	1	2	4	1	4	2	6	0	2	2	6	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:53157826G>A	ENST00000296292.3	-	3	241	c.180C>T	c.(178-180)ttC>ttT	p.F60F	RFT1_ENST00000394738.3_Intron	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	60					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTCTGGCCAGGAAGAGGGTGG	0.498													7	26					0	0	0	0	A	53157826	G	A	53157826	2	1	364	1	0	0	0	0	0	0	0	1	13339	1165	41	2		2	RFT1	3	53157826	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	321056	53157826	144864604	393	69322											
PRKCD	5580	broad.mit.edu	37	chr3	53221364	53221364	+	Missense_Mutation	SNP	C	C	T																															tctcttgcccaggttttatgCcgctgagataatgtgtggac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:53221364C>T	ENST00000394729.2	+	14	1689	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	PRKCD_ENST00000330452.3_Missense_Mutation_p.A454V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	454	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AGGTTTTATGCCGCTGAGATA	0.587													13	65					0	0	0	0	T	53221364	C	T	53221364	3	4	364	1	0	0	0	0	1	0	0	0	12589	739	26	4	1411	4	PRKCD	3	53221364	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	63538	53221364	144801066	394	69323	868	2									
PRKCD	5580	broad.mit.edu	37	chr3	53221365	53221365	+	Silent	SNP	C	C	T																															ctcttgcccaggttttatgcCgctgagataatgtgtggact																								rs41295962	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:53221365C>T	ENST00000394729.2	+	14	1690	c.1362C>T	c.(1360-1362)gcC>gcT	p.A454A	PRKCD_ENST00000330452.3_Silent_p.A454A	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	454	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GGTTTTATGCCGCTGAGATAA	0.592													13	64					0	0	0	0	T	53221365	C	T	53221365	2	4	364	1	0	0	0	0	0	0	0	1	12589	639	23	1		1	PRKCD	3	53221365	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	53221365	144801065	395	69324	868	2									
ERC2	26059	broad.mit.edu	37	chr3	56183087	56183087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcctcagtgttcagcacaCcattggcttttaacatctgg	8	13	9	11	0	3	0	2	0	1	0	4	0	4	0	2	3	2	3	2	3	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:56183087C>T	ENST00000288221.6	-	5	1478	c.1223G>A	c.(1222-1224)gGt>gAt	p.G408D		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	408						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTTCAGCACACCATTGGCTTT	0.403													17	43					0	0	0	0	T	56183087	C	T	56183087	3	4	364	1	0	0	0	0	1	0	0	0	5249	507	18	4	1692	4	ERC2	3	56183087	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2961722	56183087	141839343	396	69325											
PTPRG	5793	broad.mit.edu	37	chr3	62188887	62188887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagccgacatggcccccaTcagctcggggtcttctacct	6	10	9	16	2	4	0	2	0	2	0	5	1	4	0	4	3	3	1	4	3	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:62188887T>C	ENST00000474889.1	+	12	1795	c.1418T>C	c.(1417-1419)aTc>aCc	p.I473T	PTPRG_ENST00000295874.10_Missense_Mutation_p.I473T	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	473					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATGGCCCCCATCAGCTCGGGG	0.587													21	68					0	0	0	0	C	62188887	T	C	62188887	3	2	364	1	0	0	0	0	1	0	0	0	12884	1435	50	5	1464	5	PTPRG	3	62188887	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	6005800	62188887	135833543	397	69326											
PTPRG	5793	broad.mit.edu	37	chr3	62257095	62257095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagggtcgtcagaatgaaaGggtagtgatccagtatcact	13	9	12	7	1	2	3	2	2	0	1	4	3	3	3	1	2	0	2	1	2	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:62257095G>A	ENST00000474889.1	+	21	3424	c.3047G>A	c.(3046-3048)aGg>aAg	p.R1016K	PTPRG_ENST00000295874.10_Missense_Mutation_p.R987K|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1016	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGAATGAAAGGGTAGTGATC	0.478													10	37					0	0	0	0	A	62257095	G	A	62257095	3	1	364	1	0	0	0	0	1	0	0	0	12884	1000	35	4	3129	4	PTPRG	3	62257095	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	68208	62257095	135765335	398	69327											
THOC7	80145	broad.mit.edu	37	chr3	63823658	63823658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaaaacccttaccttggcGattttttcgtattcgttttg	7	18	6	10	3	1	0	1	0	0	0	3	1	1	0	2	1	2	2	2	1	4	9			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:63823658G>A	ENST00000295899.5	-	4	458	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	THOC7_ENST00000498422.1_5'UTR|C3orf49_ENST00000295896.8_Intron	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	116	Interaction with NIF3L1.|Interaction with THOC5.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TTACCTTGGCGATTTTTTCGT	0.348													29	69					0	0	0	0	A	63823658	G	A	63823658	3	1	364	1	0	0	0	0	1	0	0	0	15964	1058	37	1	288	1	THOC7	3	63823658	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1566563	63823658	134198772	399	69328											
ATXN7	6314	broad.mit.edu	37	chr3	63976037	63976037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattattcaggtcatcatcCtcagccagcatctgtaagtt	10	14	6	11	0	6	0	5	0	1	0	7	0	7	0	2	1	2	3	2	1	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:63976037C>T	ENST00000398590.3	+	10	2100	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L	ATXN7_ENST00000538065.1_Missense_Mutation_p.P516L|ATXN7_ENST00000487717.1_Missense_Mutation_p.P516L|ATXN7_ENST00000484332.1_Missense_Mutation_p.P371L|ATXN7_ENST00000295900.6_Missense_Mutation_p.P516L	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	516					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GGTCATCATCCTCAGCCAGCA	0.572													9	31					0	0	0	0	T	63976037	C	T	63976037	3	4	364	1	0	0	0	0	1	0	0	0	1219	681	24	4	1645	4	ATXN7	3	63976037	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	152379	63976037	134046393	400	69329											
ADAMTS9	56999	broad.mit.edu	37	chr3	64587787	64587787	+	Missense_Mutation	SNP	G	G	A																															acagtcctggtcagtttctgGgatataatcctggtcacact																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:64587787G>A	ENST00000498707.1	-	26	4192	c.3850C>T	c.(3850-3852)Cca>Tca	p.P1284S	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P1256S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1284	TSP type-1 8.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCAGTTTCTGGGATATAATCC	0.542													25	69					0	0	0	0	A	64587787	G	A	64587787	3	1	364	1	0	0	0	0	1	0	0	0	273	1232	43	4	2013	4	ADAMTS9	3	64587787	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	611750	64587787	133434643	401	69330	869	2									
ADAMTS9	56999	broad.mit.edu	37	chr3	64587788	64587788	+	Silent	SNP	G	G	A																															cagtcctggtcagtttctggGatataatcctggtcacactc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:64587788G>A	ENST00000498707.1	-	26	4191	c.3849C>T	c.(3847-3849)atC>atT	p.I1283I	ADAMTS9_ENST00000295903.4_Silent_p.I1255I	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1283	TSP type-1 8.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGTTTCTGGGATATAATCCT	0.542													25	67					0	0	0	0	A	64587788	G	A	64587788	2	1	364	1	0	0	0	0	0	0	0	1	273	1164	41	2		2	ADAMTS9	3	64587788	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	64587788	133434642	402	69331	869	2									
CNTN3	5067	broad.mit.edu	37	chr3	74418486	74418486	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattttgctggaaaatggcAgcccatcacttcttctccaa	11	13	6	11	0	3	0	1	0	2	0	4	1	3	1	2	2	2	2	2	2	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:74418486A>C	ENST00000263665.6	-	7	827	c.800T>G	c.(799-801)cTg>cGg	p.L267R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	267	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGAAAATGGCAGCCCATCACT	0.403													19	38					0	0	0	0	C	74418486	A	C	74418486	3	2	364	1	0	0	0	0	1	0	0	0	3672	188	7	5	2350	5	CNTN3	3	74418486	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	9830698	74418486	123603944	403	69332											
NSUN3	63899	broad.mit.edu	37	chr3	93803120	93803120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttaccttagcagaactccgGgccgaatcccttcagaaaga	12	8	9	12	2	1	3	1	0	0	3	3	4	3	3	4	1	3	2	4	1	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:93803120G>A	ENST00000314622.4	+	3	503	c.292G>A	c.(292-294)Ggc>Agc	p.G98S		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	98							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CAGAACTCCGGGCCGAATCCC	0.423													12	55					0	0	0	0	A	93803120	G	A	93803120	3	1	364	1	0	0	0	0	1	0	0	0	10750	1232	43	4	302	4	NSUN3	3	93803120	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	19384634	93803120	104219310	404	69333											
OR5H15	403274	broad.mit.edu	37	chr3	97887665	97887665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atatctcatcaccatcatggGgaatcttggtctgattgctg	9	14	9	9	0	5	1	3	1	3	0	6	2	5	2	1	3	1	1	1	3	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:97887665G>A	ENST00000356526.2	+	1	122	c.122G>A	c.(121-123)gGg>gAg	p.G41E		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ACCATCATGGGGAATCTTGGT	0.408													87	144					0	0	0	0	A	97887665	G	A	97887665	3	1	364	1	0	0	0	0	1	0	0	0	11232	1232	43	4	124	4	OR5H15	3	97887665	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4084545	97887665	100134765	405	69334											
OR5K1	26339	broad.mit.edu	37	chr3	98188840	98188840	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatgatgtccaagaaactCtgcattcagatgaccacagg	14	9	8	10	0	3	4	2	2	1	2	4	4	4	4	2	1	2	1	2	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:98188840C>T	ENST00000332650.5	+	1	517	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAAGAAACTCTGCATTCAGA	0.468													20	107					0	0	0	0	T	98188840	C	T	98188840	2	4	364	1	0	0	0	0	0	0	0	1	11237	900	32	2		2	OR5K1	3	98188840	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	301175	98188840	99833590	406	69335											
IMPG2	50939	broad.mit.edu	37	chr3	100995507	100995507	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgaagacacaaaagtataCctcccaatgttgaagtatca	18	9	6	8	0	1	3	1	2	0	1	2	3	2	3	2	0	1	3	2	0	9	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:100995507C>T	ENST00000193391.7	-	5	771		c.e5+1			NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2						visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAAAAGTATACCTCCCAATGT	0.318													20	45					0	0	0	0	T	100995507	C	T	100995507	5	4	364	1	0	0	0	0	0	0	1	0	7782	521	18	4	3201	4	IMPG2	3	100995507	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2806667	100995507	97026923	407	69336											
CD96	10225	broad.mit.edu	37	chr3	111261150	111261150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcatccagatacattttGtcaagggtaagacttccagt	13	12	7	9	0	2	2	2	0	0	2	4	2	4	2	2	1	1	1	2	1	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:111261150G>T	ENST00000352690.4	+	1	295	c.55G>T	c.(55-57)Gtc>Ttc	p.V19F	CD96_ENST00000283285.5_Missense_Mutation_p.V19F|CD96_ENST00000438817.2_Missense_Mutation_p.V19F	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	19					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GATACATTTTGTCAAGGGTAA	0.438									Opitz Trigonocephaly syndrome				23	35					1.96895e-08	2.006e-08	1	0	T	111261150	G	T	111261150	3	4	364	1	0	0	0	0	1	0	0	0	3077	1377	48	4	57	4	CD96	3	111261150	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	10265643	111261150	86761280	408	69337											
BOC	91653	broad.mit.edu	37	chr3	112991948	112991948	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatggagctatcccagCtggtcatcccctggggccag	7	8	11	15	0	2	0	2	0	0	0	4	1	4	1	5	4	2	2	5	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:112991948C>T	ENST00000495514.1	+	8	1698	c.994C>T	c.(994-996)Ctg>Ttg	p.L332L	BOC_ENST00000355385.3_Silent_p.L332L|BOC_ENST00000273395.4_Silent_p.L332L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	332	Ig-like C2-type 4.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCTATCCCAGCTGGTCATCCC	0.632													22	61					0	0	0	0	T	112991948	C	T	112991948	2	4	364	1	0	0	0	0	0	0	0	1	1486	796	28	4		4	BOC	3	112991948	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1730798	112991948	85030482	409	69338											
SIDT1	54847	broad.mit.edu	37	chr3	113323756	113323756	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttctttctgcctgcataGgaacatcatcaccattgctg	8	14	8	11	0	4	0	2	0	2	0	4	1	4	1	2	2	4	3	2	2	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:113323756G>A	ENST00000264852.4	+	14	2063		c.e14-1		SIDT1_ENST00000463226.1_Splice_Site|SIDT1_ENST00000393830.3_Splice_Site	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGCCTGCATAGGAACATCATC	0.453													19	114					0	0	0	0	A	113323756	G	A	113323756	5	1	364	1	0	0	0	0	0	0	1	0	14390	1014	35	4	1391	4	SIDT1	3	113323756	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	331808	113323756	84698674	410	69339											
DRD3	1814	broad.mit.edu	37	chr3	113858410	113858410	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtcgagtgaggatccttttCcgtctcctttgtttcagcac	5	16	9	11	2	2	1	1	1	1	0	6	3	4	2	3	1	1	2	3	1	0	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:113858410C>T	ENST00000383673.2	-	5	1090	c.660G>A	c.(658-660)cgG>cgA	p.R220R	DRD3_ENST00000467632.1_Silent_p.R220R|DRD3_ENST00000295881.7_Silent_p.R220R|DRD3_ENST00000460779.1_Silent_p.R220R	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	220					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGATCCTTTTCCGTCTCCTTT	0.507													63	115					0	0	0	0	T	113858410	C	T	113858410	2	4	364	1	0	0	0	0	0	0	0	1	4794	842	30	2		2	DRD3	3	113858410	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	534654	113858410	84164020	411	69340											
PLA1A	51365	broad.mit.edu	37	chr3	119325781	119325781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctccaaaactctgggttCaatgccactctgggaaccaa	12	8	8	13	0	3	0	1	0	2	0	4	2	4	1	4	2	3	1	4	2	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:119325781C>A	ENST00000273371.4	+	2	306	c.234C>A	c.(232-234)ttC>ttA	p.F78L	PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000494440.1_Missense_Mutation_p.F62L|PLA1A_ENST00000495992.1_Missense_Mutation_p.F78L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	78					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACTCTGGGTTCAATGCCACTC	0.443													39	153					8.48111e-28	8.84374e-28	1	0	A	119325781	C	A	119325781	3	1	364	1	0	0	0	0	1	0	0	0	12060	825	29	2	240	2	PLA1A	3	119325781	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5467371	119325781	78696649	412	69341											
POLQ	10721	broad.mit.edu	37	chr3	121151809	121151809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatataggagttcatcatGgagttgaaggatgaagaagc	14	11	12	4	0	3	3	3	2	0	1	3	6	3	6	0	3	1	2	0	3	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:121151809G>A	ENST00000264233.5	-	29	7743	c.7615C>T	c.(7615-7617)Cat>Tat	p.H2539Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2539					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGTTCATCATGGAGTTGAAGG	0.413								DNA polymerases (catalytic subunits)					28	28					0	0	0	0	A	121151809	G	A	121151809	3	1	364	1	0	0	0	0	1	0	0	0	12280	1348	47	4	165	4	POLQ	3	121151809	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1826028	121151809	76870621	413	69342											
POLQ	10721	broad.mit.edu	37	chr3	121207527	121207527	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccaatagtattggagaatgGaaaatcgggctttctggagt	12	12	12	5	1	1	1	0	0	1	1	3	4	2	3	1	4	0	2	1	4	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:121207527G>A	ENST00000264233.5	-	16	4379	c.4251C>T	c.(4249-4251)ttC>ttT	p.F1417F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1417					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTGGAGAATGGAAAATCGGGC	0.343								DNA polymerases (catalytic subunits)					12	62					0	0	0	0	A	121207527	G	A	121207527	2	1	364	1	0	0	0	0	0	0	0	1	12280	1165	41	2		2	POLQ	3	121207527	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	55718	121207527	76814903	414	69343											
CD86	942	broad.mit.edu	37	chr3	121828255	121828255	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcaactcttataaatgtGgtgagtgagtccttgtcctc	8	14	9	10	1	1	2	0	2	1	0	5	2	3	2	2	1	1	1	2	1	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:121828255G>A	ENST00000330540.2	+	5	963	c.847_splice	c.e5+1	p.G283_splice	CD86_ENST00000469710.1_Splice_Site_p.G201_splice|CD86_ENST00000393627.2_Splice_Site_p.G277_splice|CD86_ENST00000493101.1_Splice_Site_p.G171_splice|CD86_ENST00000264468.5_Splice_Site_p.G70_splice	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	283					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTATAAATGTGGTGAGTGAGT	0.473													27	129					0	0	0	0	A	121828255	G	A	121828255	5	1	364	1	0	0	0	0	0	0	1	0	3072	1362	47	4	865	4	CD86	3	121828255	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	620728	121828255	76194175	415	69344											
CASR	846	broad.mit.edu	37	chr3	122003885	122003885	+	Silent	SNP	G	G	A																															gacttagatctgaccgtccaGgaaacaggtctgcaaggacc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:122003885G>A	ENST00000498619.1	+	7	3552	c.3114G>A	c.(3112-3114)caG>caA	p.Q1038Q	CASR_ENST00000490131.1_Silent_p.Q1028Q|CASR_ENST00000296154.5_Silent_p.Q1028Q	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1028					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGACCGTCCAGGAAACAGGTC	0.587													9	59					0	0	0	0	A	122003885	G	A	122003885	2	1	364	1	0	0	0	0	0	0	0	1	2707	991	35	4		4	CASR	3	122003885	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	175630	122003885	76018545	416	69345	870	2									
CASR	846	broad.mit.edu	37	chr3	122003886	122003886	+	Missense_Mutation	SNP	G	G	A																															acttagatctgaccgtccagGaaacaggtctgcaaggacct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:122003886G>A	ENST00000498619.1	+	7	3553	c.3115G>A	c.(3115-3117)Gaa>Aaa	p.E1039K	CASR_ENST00000490131.1_Missense_Mutation_p.E1029K|CASR_ENST00000296154.5_Missense_Mutation_p.E1029K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1029					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GACCGTCCAGGAAACAGGTCT	0.587													8	60					0	0	0	0	A	122003886	G	A	122003886	3	1	364	1	0	0	0	0	1	0	0	0	2707	1175	41	2	3137	2	CASR	3	122003886	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	122003886	76018544	417	69346	870	2									
ALDH1L1	10840	broad.mit.edu	37	chr3	125855667	125855667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctcggcatccacgaactcCcccccaatgaagagctggtg	9	6	9	17	2	0	2	0	1	0	1	3	3	2	2	5	2	2	2	5	2	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:125855667C>T	ENST00000393434.2	-	11	1633	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G	ALDH1L1_ENST00000273450.3_Silent_p.G438G|ALDH1L1_ENST00000472186.1_Silent_p.G428G|ALDH1L1_ENST00000452905.2_Silent_p.G327G|ALDH1L1_ENST00000393431.2_Silent_p.G428G	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	428	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCACGAACTCCCCCCCAATGA	0.592													4	16					0	0	0	0	T	125855667	C	T	125855667	2	4	364	1	0	0	0	0	0	0	0	1	494	610	22	4		4	ALDH1L1	3	125855667	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3851781	125855667	72166763	418	69347											
H1FOO	132243	broad.mit.edu	37	chr3	129267879	129267879	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagaagaaaatccagcccagGaagatggcccccgcgacggc	14	2	12	13	3	0	3	0	0	0	3	1	5	1	4	4	3	1	0	4	3	5	0	rs145471008		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129267879G>A	ENST00000324382.2	+	3	419	c.414G>A	c.(412-414)agG>agA	p.R138R	H1FOO_ENST00000503977.1_5'UTR	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	138					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	p.R138R(1)		endometrium(1)|lung(4)|skin(1)	6						TCCAGCCCAGGAAGATGGCCC	0.647													3	19					0	0	0	0	A	129267879	G	A	129267879	2	1	364	1	0	0	0	0	0	0	0	1	6972	1165	41	2		2	H1FOO	3	129267879	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3412212	129267879	68754551	419	69348											
PLXND1	23129	broad.mit.edu	37	chr3	129292537	129292537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccggcccaggttccttcCtcggatggtcagcagggtcc	4	8	13	16	3	1	0	1	0	0	0	5	1	4	1	6	5	1	2	6	5	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129292537C>T	ENST00000393239.1	-	13	2915	c.2737G>A	c.(2737-2739)Gga>Aga	p.G913R	PLXND1_ENST00000324093.4_Missense_Mutation_p.G913R			Q9Y4D7	PLXD1_HUMAN	plexin D1	913	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGGTTCCTTCCTCGGATGGTC	0.657													7	20					0	0	0	0	T	129292537	C	T	129292537	3	4	364	1	0	0	0	0	1	0	0	0	12199	690	24	4	3136	4	PLXND1	3	129292537	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	24658	129292537	68729893	420	69349											
PLXND1	23129	broad.mit.edu	37	chr3	129324699	129324699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgatcttgaggatgttgtCgtcggaggggttgaggtcga	6	13	17	5	3	1	3	0	3	1	0	4	6	1	5	0	5	0	2	0	5	0	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129324699C>T	ENST00000393239.1	-	1	962	c.784G>A	c.(784-786)Gac>Aac	p.D262N	PLXND1_ENST00000324093.4_Missense_Mutation_p.D262N			Q9Y4D7	PLXD1_HUMAN	plexin D1	262	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGGATGTTGTCGTCGGAGGGG	0.662													3	18					0	0	0	0	T	129324699	C	T	129324699	3	4	364	1	0	0	0	0	1	0	0	0	12199	884	31	1	5137	1	PLXND1	3	129324699	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	32162	129324699	68697731	421	69350											
TRH	7200	broad.mit.edu	37	chr3	129695865	129695865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggaagagagagaggaaGacctgatgcctgaaaaacgc	17	3	15	6	1	0	5	0	2	0	3	0	10	0	8	2	3	2	0	2	3	4	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129695865G>A	ENST00000302649.3	+	3	1062	c.535G>A	c.(535-537)Gac>Aac	p.D179N	TRH_ENST00000507066.1_Missense_Mutation_p.D175N	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	179					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						gagagaggaagaCCTGATGCC	0.627													17	30					0	0	0	0	A	129695865	G	A	129695865	3	1	364	1	0	0	0	0	1	0	0	0	16573	942	33	2	541	2	TRH	3	129695865	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	371166	129695865	68326565	422	69351											
COL6A6	131873	broad.mit.edu	37	chr3	130313125	130313125	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgatttgtattaactttagGgaagcccagggaagagaggg	12	10	14	5	0	0	2	0	1	0	1	0	5	0	4	1	3	2	1	1	3	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:130313125G>A	ENST00000358511.6	+	17	4502	c.4470_splice	c.e17-1	p.G1491_splice	COL6A6_ENST00000453409.2_Splice_Site_p.G1491_splice	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1491	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTAACTTTAGGGAAGCCCAGG	0.428													10	64					0	0	0	0	A	130313125	G	A	130313125	5	1	364	1	0	0	0	0	0	0	1	0	3733	1246	43	4	4537	4	COL6A6	3	130313125	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	617260	130313125	67709305	423	69352											
PIK3R4	30849	broad.mit.edu	37	chr3	130452399	130452399	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aataaactcttaccagcataGgctagtctaacgatagtagc	15	10	7	9	1	2	0	0	0	2	0	2	1	2	0	1	1	5	3	1	1	9	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:130452399G>A	ENST00000356763.3	-	4	2000	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	481					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						TACCAGCATAGGCTAGTCTAA	0.353													8	46					0	0	0	0	A	130452399	G	A	130452399	2	1	364	1	0	0	0	0	0	0	0	1	11993	987	35	4		4	PIK3R4	3	130452399	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	139274	130452399	67570031	424	69353											
PCCB	5096	broad.mit.edu	37	chr3	136046022	136046022	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacaggaatacgggggcatCatccggcatggtgccaagct	10	6	14	11	2	1	0	1	0	0	0	2	1	2	1	2	5	3	4	2	5	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:136046022C>T	ENST00000471595.1	+	12	1242	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	PCCB_ENST00000462637.1_Silent_p.I385I|PCCB_ENST00000490504.1_Silent_p.I351I|PCCB_ENST00000468777.1_Silent_p.I439I|PCCB_ENST00000482086.1_Silent_p.I292I|PCCB_ENST00000483687.1_Silent_p.I389I|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000469217.1_Silent_p.I428I|PCCB_ENST00000251654.4_Silent_p.I408I|PCCB_ENST00000466072.1_Silent_p.I428I|PCCB_ENST00000478469.1_Intron			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	408	Carboxyltransferase.		Missing (in PA-2).		fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	ACGGGGGCATCATCCGGCATG	0.522													33	40					0	0	0	0	T	136046022	C	T	136046022	2	4	364	1	0	0	0	0	0	0	0	1	11576	816	29	2		2	PCCB	3	136046022	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5593623	136046022	61976408	425	69354											
IL20RB	53833	broad.mit.edu	37	chr3	136708318	136708318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggatggagatcaccaaaGatggcttccacctggttatt	10	11	11	9	0	1	2	1	0	0	2	2	4	2	3	3	4	0	2	3	4	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:136708318G>A	ENST00000329582.4	+	4	691	c.442G>A	c.(442-444)Gat>Aat	p.D148N	IL20RB_ENST00000309741.5_Missense_Mutation_p.D101N|IL20RB_ENST00000484501.1_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	148	Fibronectin type-III 2.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GATCACCAAAGATGGCTTCCA	0.567													9	55					0	0	0	0	A	136708318	G	A	136708318	3	1	364	1	0	0	0	0	1	0	0	0	7722	942	33	2	456	2	IL20RB	3	136708318	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	662296	136708318	61314112	426	69355											
GRK7	131890	broad.mit.edu	37	chr3	141499323	141499323	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatggctctcttggaaaaGgaaatcttggagaaggtcag	14	9	13	5	0	3	2	1	0	2	2	4	5	3	4	0	5	0	1	0	5	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:141499323G>A	ENST00000264952.2	+	2	857	c.720G>A	c.(718-720)aaG>aaA	p.K240K		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	240	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TCTTGGAAAAGGAAATCTTGG	0.498													19	76					0	0	0	0	A	141499323	G	A	141499323	2	1	364	1	0	0	0	0	0	0	0	1	6844	991	35	4		4	GRK7	3	141499323	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4791005	141499323	56523107	427	69356											
XRN1	54464	broad.mit.edu	37	chr3	142048324	142048324	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggttgtggcattccaacaagGgaacaaattcgagaaagttc	14	9	11	7	1	0	1	0	0	0	1	3	3	1	2	1	3	2	3	1	3	5	4	rs139447998		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:142048324G>A	ENST00000264951.4	-	37	4470	c.4353C>T	c.(4351-4353)tcC>tcT	p.S1451S	XRN1_ENST00000392981.2_Silent_p.S1452S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1451					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TTCCAACAAGGGAACAAATTC	0.388													12	31					0	0	0	0	A	142048324	G	A	142048324	2	1	364	1	0	0	0	0	0	0	0	1	17555	1219	43	4		4	XRN1	3	142048324	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	549001	142048324	55974106	428	69357											
SLC9A9	285195	broad.mit.edu	37	chr3	143371183	143371183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggtcgacgtgcagttcatgGaaaatggccagcactgtcac	10	8	13	10	2	2	0	2	0	0	0	3	2	2	1	1	3	2	3	1	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:143371183G>A	ENST00000316549.6	-	6	877	c.669C>T	c.(667-669)ttC>ttT	p.F223F		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	223					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCAGTTCATGGAAAATGGCCA	0.473													8	21					0	0	0	0	A	143371183	G	A	143371183	2	1	364	1	0	0	0	0	0	0	0	1	14809	1165	41	2		2	SLC9A9	3	143371183	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1322859	143371183	54651247	429	69358											
TM4SF4	7104	broad.mit.edu	37	chr3	149205446	149205446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctgtggttggattcttggGagctggatactcgtttatca	6	16	13	6	1	2	0	1	0	1	0	3	3	2	3	0	4	3	4	0	4	2	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:149205446G>A	ENST00000305354.4	+	3	1209	c.305G>A	c.(304-306)gGa>gAa	p.G102E		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	102						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GGATTCTTGGGAGCTGGATAC	0.478													17	58					0	0	0	0	A	149205446	G	A	149205446	3	1	364	1	0	0	0	0	1	0	0	0	16064	1174	41	2	315	2	TM4SF4	3	149205446	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5834263	149205446	48816984	430	69359											
CLRN1	7401	broad.mit.edu	37	chr3	150690369	150690369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcattgacgagcagagctcCcgttttgcagaggacagtgg	9	8	15	9	2	0	3	0	1	0	2	1	5	1	4	1	3	3	5	1	3	0	3	rs111033434		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:150690369C>T	ENST00000327047.1	-	1	417	c.127G>A	c.(127-129)Gga>Aga	p.G43R	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.G43R	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	43					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGCAGAGCTCCCGTTTTGCAG	0.547													26	102					0	0	0	0	T	150690369	C	T	150690369	3	4	364	1	0	0	0	0	1	0	0	0	3587	632	22	4	637	4	CLRN1	3	150690369	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1484923	150690369	47332061	431	69360											
MED12L	116931	broad.mit.edu	37	chr3	150876480	150876480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctttgttcatttaaggaagGaatgttagaaaaacacgaat	16	13	8	4	1	2	1	1	0	1	1	2	4	2	3	0	2	1	2	0	2	7	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:150876480G>A	ENST00000474524.1	+	6	769	c.731G>A	c.(730-732)gGa>gAa	p.G244E	MED12L_ENST00000309237.4_Missense_Mutation_p.G244E|MED12L_ENST00000273432.4_Missense_Mutation_p.G244E|MED12L_ENST00000422248.2_Missense_Mutation_p.G244E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	244					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTAAGGAAGGAATGTTAGAA	0.303													9	26					0	0	0	0	A	150876480	G	A	150876480	3	1	364	1	0	0	0	0	1	0	0	0	9498	1174	41	2	753	2	MED12L	3	150876480	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	186111	150876480	47145950	432	69361											
IGSF10	285313	broad.mit.edu	37	chr3	151155338	151155338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaaatggatttctaaatgtCggtcttctcagcatttccag	10	16	7	8	1	3	0	1	0	3	0	6	1	4	1	1	2	1	1	1	2	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:151155338C>T	ENST00000282466.3	-	6	7010	c.7011G>A	c.(7009-7011)ccG>ccA	p.P2337P	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2337	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTAAATGTCGGTCTTCTCA	0.433													41	69					0	0	0	0	T	151155338	C	T	151155338	2	4	364	1	0	0	0	0	0	0	0	1	7650	871	31	1		1	IGSF10	3	151155338	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	278858	151155338	46867092	433	69362											
VEPH1	79674	broad.mit.edu	37	chr3	157082173	157082173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagagccaggggtattgctcCctgcatttatcttgtcttca	7	15	9	10	0	3	1	1	0	2	1	4	1	4	1	2	2	3	3	2	2	3	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:157082173C>T	ENST00000362010.2	-	8	1563	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.G419E|VEPH1_ENST00000392832.2_Missense_Mutation_p.G419E|VEPH1_ENST00000392833.2_Missense_Mutation_p.G419E	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	419						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTATTGCTCCCTGCATTTAT	0.373													14	87					0	0	0	0	T	157082173	C	T	157082173	3	4	364	1	0	0	0	0	1	0	0	0	17250	623	22	4	1273	4	VEPH1	3	157082173	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5926835	157082173	40940257	434	69363											
VEPH1	79674	broad.mit.edu	37	chr3	157099102	157099102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccagcaggagaatatggtGaaacgaatgctccatgttgg	12	9	12	8	1	0	2	0	1	0	1	2	4	2	2	2	3	3	3	2	3	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:157099102G>A	ENST00000362010.2	-	7	1277	c.970C>T	c.(970-972)Cac>Tac	p.H324Y	VEPH1_ENST00000543418.1_Missense_Mutation_p.H324Y|VEPH1_ENST00000392832.2_Missense_Mutation_p.H324Y|VEPH1_ENST00000392833.2_Missense_Mutation_p.H324Y	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	324						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGAATATGGTGAAACGAATGC	0.473													14	67					0	0	0	0	A	157099102	G	A	157099102	3	1	364	1	0	0	0	0	1	0	0	0	17250	1290	45	2	1563	2	VEPH1	3	157099102	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	16929	157099102	40923328	435	69364											
BCHE	590	broad.mit.edu	37	chr3	165503942	165503942	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagacacacctgtcatttCcaagacttttggaaaaaatg	16	10	6	9	0	1	2	1	0	0	2	2	3	2	3	2	1	1	0	2	1	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:165503942C>A	ENST00000264381.3	-	3	1841	c.1675G>T	c.(1675-1677)Gaa>Taa	p.E559*	BCHE_ENST00000540653.1_Nonsense_Mutation_p.E21*	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	559					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CCTGTCATTTCCAAGACTTTT	0.358													11	51					6.81908e-15	7.03477e-15	1	0	A	165503942	C	A	165503942	4	1	364	1	0	0	0	0	0	1	0	0	1362	864	30	2	141	2	BCHE	3	165503942	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	8404840	165503942	32518488	436	69365											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540214	169540214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaaccagaccaagctgaggGagatctacctgaagcgaaac	15	5	11	10	1	1	5	0	3	1	2	1	7	1	5	3	1	5	1	3	1	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:169540214G>A	ENST00000340806.6	+	1	505	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	169										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CAAGCTGAGGGAGATCTACCT	0.493													9	54					0	0	0	0	A	169540214	G	A	169540214	3	1	364	1	0	0	0	0	1	0	0	0	9095	1175	41	2	507	2	LRRIQ4	3	169540214	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4036272	169540214	28482216	437	69366											
PLD1	5337	broad.mit.edu	37	chr3	171443857	171443857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacagctggcttatatcaaGaaactctgtctgaaaagaag	16	9	9	7	0	3	4	1	1	2	3	3	4	3	4	0	1	2	2	0	1	7	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:171443857G>A	ENST00000356327.5	-	7	686	c.616C>T	c.(616-618)Ctt>Ttt	p.L206F	PLD1_ENST00000340989.4_Missense_Mutation_p.L206F|PLD1_ENST00000351298.4_Missense_Mutation_p.L206F|PLD1_ENST00000342215.6_Missense_Mutation_p.L206F	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	206	PX.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTATATCAAGAAACTCTGTC	0.318													16	48					0	0	0	0	A	171443857	G	A	171443857	3	1	364	1	0	0	0	0	1	0	0	0	12117	942	33	2	2692	2	PLD1	3	171443857	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1903643	171443857	26578573	438	69367											
MFN1	55669	broad.mit.edu	37	chr3	179104303	179104303	+	Nonsense_Mutation	SNP	G	G	A																															tctttatgaaagactgagctGgaccacccatgccaaggagc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:179104303G>A	ENST00000471841.1	+	16	2024	c.1898G>A	c.(1897-1899)tGg>tAg	p.W633*	MFN1_ENST00000280653.7_Nonsense_Mutation_p.W522*|MFN1_ENST00000263969.5_Nonsense_Mutation_p.W633*	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	633					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGACTGAGCTGGACCACCCAT	0.398													20	62					0	0	0	0	A	179104303	G	A	179104303	4	1	364	1	0	0	0	0	0	1	0	0	9592	1357	47	4	1956	4	MFN1	3	179104303	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	7660446	179104303	18918127	439	69368	871	2									
MFN1	55669	broad.mit.edu	37	chr3	179104304	179104304	+	Nonsense_Mutation	SNP	G	G	A																															ctttatgaaagactgagctgGaccacccatgccaaggagcg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:179104304G>A	ENST00000471841.1	+	16	2025	c.1899G>A	c.(1897-1899)tgG>tgA	p.W633*	MFN1_ENST00000280653.7_Nonsense_Mutation_p.W522*|MFN1_ENST00000263969.5_Nonsense_Mutation_p.W633*	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	633					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GACTGAGCTGGACCACCCATG	0.403													20	61					0	0	0	0	A	179104304	G	A	179104304	4	1	364	1	0	0	0	0	0	1	0	0	9592	1183	41	2	1957	2	MFN1	3	179104304	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	179104304	18918126	440	69369	871	2									
PEX5L	51555	broad.mit.edu	37	chr3	179576913	179576913	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtttctagaaagtaatgcGcttccccagcgatgttcttt	8	15	9	9	2	2	1	0	0	2	1	3	2	3	1	2	1	2	4	2	1	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:179576913G>A	ENST00000467460.1	-	8	1089	c.759C>T	c.(757-759)agC>agT	p.S253S	PEX5L_ENST00000464614.1_Silent_p.S145S|PEX5L_ENST00000392649.3_Silent_p.S145S|PEX5L_ENST00000263962.8_Silent_p.S251S|PEX5L_ENST00000472994.1_Silent_p.S194S|PEX5L_ENST00000485199.1_Silent_p.S218S|PEX5L_ENST00000476138.1_Silent_p.S210S|PEX5L_ENST00000468741.1_Silent_p.S61S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Silent_p.S229S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	253					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AAAGTAATGCGCTTCCCCAGC	0.368													23	80					0	0	0	0	A	179576913	G	A	179576913	2	1	364	1	0	0	0	0	0	0	0	1	11821	1078	38	1		1	PEX5L	3	179576913	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	472609	179576913	18445517	441	69370											
KLHL6	89857	broad.mit.edu	37	chr3	183217505	183217505	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgcgcctcagggggtcCaggcaggtcacctctgccac	5	6	14	16	2	3	0	2	0	1	0	4	0	4	0	4	5	2	2	4	5	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183217505C>T	ENST00000341319.3	-	4	1055	c.1020G>A	c.(1018-1020)ctG>ctA	p.L340L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	340										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCAGGGGGTCCAGGCAGGTCA	0.577													11	54					0	0	0	0	T	183217505	C	T	183217505	2	4	364	1	0	0	0	0	0	0	0	1	8445	581	21	4		4	KLHL6	3	183217505	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3640592	183217505	14804925	442	69371											
KLHL24	54800	broad.mit.edu	37	chr3	183368285	183368285	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacttctcttcaggatcatcCcatgccgaaaacatactcca	12	10	5	14	1	3	0	2	0	1	0	6	3	5	1	3	1	3	0	3	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183368285C>T	ENST00000454652.1	+	4	527	c.141C>T	c.(139-141)tcC>tcT	p.S47S	KLHL24_ENST00000476808.1_Silent_p.S47S|KLHL24_ENST00000242810.6_Silent_p.S47S			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	47						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CAGGATCATCCCATGCCGAAA	0.403													21	93					0	0	0	0	T	183368285	C	T	183368285	2	4	364	1	0	0	0	0	0	0	0	1	8431	610	22	4		4	KLHL24	3	183368285	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	150780	183368285	14654145	443	69372											
YEATS2	55689	broad.mit.edu	37	chr3	183508723	183508723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcgtcagcgccacgtccCtcgtgcctacaccaaacccc	7	6	7	21	5	1	0	1	0	0	0	4	0	2	0	7	0	4	0	7	0	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183508723C>T	ENST00000305135.5	+	21	3247	c.3052C>T	c.(3052-3054)Ctc>Ttc	p.L1018F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1018					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CGCCACGTCCCTCGTGCCTAC	0.537													26	90					0	0	0	0	T	183508723	C	T	183508723	3	4	364	1	0	0	0	0	1	0	0	0	17568	681	24	4	3130	4	YEATS2	3	183508723	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	140438	183508723	14513707	444	69373											
HTR3D	200909	broad.mit.edu	37	chr3	183756374	183756374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcccactgcgccccagaaggGaaataagggcccgggtctca	10	5	12	14	2	1	1	1	0	1	1	3	2	2	2	4	3	1	0	4	3	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183756374G>A	ENST00000382489.3	+	7	1097	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HTR3D_ENST00000334128.2_Missense_Mutation_p.G191E|HTR3D_ENST00000453435.1_Missense_Mutation_p.G145E|HTR3D_ENST00000428798.2_Missense_Mutation_p.G316E	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	366						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCCAGAAGGGAAATAAGGGC	0.657													3	20					0	0	0	0	A	183756374	G	A	183756374	3	1	364	1	0	0	0	0	1	0	0	0	7500	1174	41	2	1293	2	HTR3D	3	183756374	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	247651	183756374	14266056	445	69374											
CLCN2	1181	broad.mit.edu	37	chr3	184064422	184064422	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttgtcgtcgctgtcggaaGggctgccctcccgggggagg	4	9	17	11	4	0	0	0	0	0	0	4	2	1	2	2	5	1	2	2	5	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:184064422G>C	ENST00000265593.4	-	24	2840	c.2669C>G	c.(2668-2670)cCt>cGt	p.P890R	CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000434054.2_Missense_Mutation_p.P846R|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.P873R|CLCN2_ENST00000457512.1_Missense_Mutation_p.P861R	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	890						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCTGTCGGAAGGGCTGCCCTC	0.622													6	52					0	0	0	0	C	184064422	G	C	184064422	3	2	364	1	0	0	0	0	1	0	0	0	3493	1000	35	4	31	4	CLCN2	3	184064422	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	308048	184064422	13958008	446	69375											
CLCN2	1181	broad.mit.edu	37	chr3	184071990	184071990	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggcgacagcgttggcCaggatgacggcgatcatgac	8	7	15	11	4	2	2	1	2	1	0	2	5	2	3	1	4	1	1	1	4	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:184071990C>T	ENST00000265593.4	-	15	1791	c.1620G>A	c.(1618-1620)ctG>ctA	p.L540L	CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000434054.2_Silent_p.L496L|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Silent_p.L523L|CLCN2_ENST00000457512.1_Silent_p.L540L	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	540						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAGCGTTGGCCAGGATGACGG	0.612											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	33					0	0	0	0	T	184071990	C	T	184071990	2	4	364	1	0	0	0	0	0	0	0	1	3493	581	21	4		4	CLCN2	3	184071990	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	7568	184071990	13950440	447	69376											
MAP3K13	9175	broad.mit.edu	37	chr3	185146818	185146818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatcattgggaaggcatattCcactgattacaaattgcagc	13	12	8	8	0	1	1	1	1	0	0	2	2	2	2	1	2	3	2	1	2	5	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:185146818C>T	ENST00000265026.3	+	2	783	c.449C>T	c.(448-450)tCc>tTc	p.S150F	MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S150F|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000535426.1_Intron	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	150					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAGGCATATTCCACTGATTAC	0.443													9	41					0	0	0	0	T	185146818	C	T	185146818	3	4	364	1	0	0	0	0	1	0	0	0	9316	855	30	2	451	2	MAP3K13	3	185146818	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1074828	185146818	12875612	448	69377											
TRA2B	6434	broad.mit.edu	37	chr3	185643253	185643253	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagtttttcatcttaccCgattcccaacatgacgcctg	10	12	5	14	2	2	1	1	1	1	0	3	2	3	1	4	0	3	1	4	0	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:185643253C>G	ENST00000453386.2	-	3	607	c.333_splice	c.e3+1	p.R111_splice	TRA2B_ENST00000382191.4_Splice_Site_p.R11_splice	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	111	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	p.R111L(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TCATCTTACCCGATTCCCAAC	0.443													16	59					0	0	0	0	G	185643253	C	G	185643253	5	3	364	1	0	0	0	0	0	0	1	0	16529	666	23	3	562	3	TRA2B	3	185643253	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	496435	185643253	12379177	449	69378											
MASP1	5648	broad.mit.edu	37	chr3	186953612	186953612	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcccccccaggacaccaGgccttgcaccacccagcgct	8	4	9	20	1	0	0	0	0	0	0	1	1	1	1	7	3	2	2	7	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:186953612G>A	ENST00000296280.6	-	11	2272	c.2047C>T	c.(2047-2049)Ctg>Ttg	p.L683L	MASP1_ENST00000392472.2_Silent_p.L570L|MASP1_ENST00000337774.5_Intron	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	665	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CAGGACACCAGGCCTTGCACC	0.582													17	24					0	0	0	0	A	186953612	G	A	186953612	2	1	364	1	0	0	0	0	0	0	0	1	9391	991	35	4		4	MASP1	3	186953612	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1310359	186953612	11068818	450	69379											
CLDN16	10686	broad.mit.edu	37	chr3	190122651	190122651	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgactgcgtgaaattcctCcctgatgagccgtacattaa	10	12	8	11	2	0	4	0	4	0	0	2	4	2	4	3	0	3	1	3	0	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:190122651C>T	ENST00000264734.2	+	3	776	c.528C>T	c.(526-528)ctC>ctT	p.L176L	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	176					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TGAAATTCCTCCCTGATGAGC	0.502													19	60					0	0	0	0	T	190122651	C	T	190122651	2	4	364	1	0	0	0	0	0	0	0	1	3507	842	30	2		2	CLDN16	3	190122651	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3169039	190122651	7899779	451	69380											
IL1RAP	3556	broad.mit.edu	37	chr3	190363561	190363561	+	Silent	SNP	C	C	T																															gaatttgtattactgaccctCcgtggagttttggagaatga																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:190363561C>T	ENST00000412504.2	+	10	1527	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	IL1RAP_ENST00000439062.1_Silent_p.L425L|IL1RAP_ENST00000072516.3_Silent_p.L425L|IL1RAP_ENST00000447382.1_Silent_p.L425L|IL1RAP_ENST00000317757.3_Silent_p.L425L|IL1RAP_ENST00000443369.2_Silent_p.L425L			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	425	TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TACTGACCCTCCGTGGAGTTT	0.408													29	49					0	0	0	0	T	190363561	C	T	190363561	2	4	364	1	0	0	0	0	0	0	0	1	7713	842	30	2		2	IL1RAP	3	190363561	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	240910	190363561	7658869	452	69381	872	2									
IL1RAP	3556	broad.mit.edu	37	chr3	190363562	190363562	+	Missense_Mutation	SNP	C	C	T																															aatttgtattactgaccctcCgtggagttttggagaatgaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:190363562C>T	ENST00000412504.2	+	10	1528	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	IL1RAP_ENST00000439062.1_Missense_Mutation_p.R426C|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R426C|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R426C|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R426C|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R426C			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	426	TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ACTGACCCTCCGTGGAGTTTT	0.408													29	48					0	0	0	0	T	190363562	C	T	190363562	3	4	364	1	0	0	0	0	1	0	0	0	7713	652	23	1	1330	1	IL1RAP	3	190363562	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	190363562	7658868	453	69382	872	2									
OSTN	344901	broad.mit.edu	37	chr3	190930354	190930354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agattggcaagtgcacatttCatcctggctgtgacactgac	10	11	10	10	0	1	3	1	2	0	1	2	3	2	3	1	2	1	3	1	2	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:190930354C>T	ENST00000445281.1	+	2	100	c.33C>T	c.(31-33)ttC>ttT	p.F11F	OSTN_ENST00000339051.1_Silent_p.F11F			P61366	OSTN_HUMAN	osteocrin	11					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		GTGCACATTTCATCCTGGCTG	0.398													17	21					0	0	0	0	T	190930354	C	T	190930354	2	4	364	1	0	0	0	0	0	0	0	1	11370	825	29	2		2	OSTN	3	190930354	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	566792	190930354	7092076	454	69383											
HRASLS	57110	broad.mit.edu	37	chr3	192980899	192980899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgaaacgtacccccctctcCctgtggaagaaatcataaag	14	8	7	12	1	2	2	1	1	1	1	3	3	2	3	4	1	2	1	4	1	6	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:192980899C>T	ENST00000264735.2	+	3	689	c.595C>T	c.(595-597)Cct>Tct	p.P199S	HRASLS_ENST00000602513.1_Missense_Mutation_p.P94S	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	94										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|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;0.000159)		CCCCCCTCTCCCTGTGGAAGA	0.428													21	90					0	0	0	0	T	192980899	C	T	192980899	3	4	364	1	0	0	0	0	1	0	0	0	7399	623	22	4	286	4	HRASLS	3	192980899	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2050545	192980899	5041531	455	69384											
ATP13A4	84239	broad.mit.edu	37	chr3	193174805	193174805	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacctgtctcaggttggcaAaagctggccaccctctctgg	8	9	11	13	0	2	1	1	0	2	1	4	1	2	1	3	4	1	3	3	4	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:193174805A>T	ENST00000342695.4	-	16	2221	c.1899T>A	c.(1897-1899)ttT>ttA	p.F633L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.F614L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	633					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAGGTTGGCAAAAGCTGGCCA	0.453													8	23					0	0	0	0	T	193174805	A	T	193174805	3	4	364	1	0	0	0	0	1	0	0	0	1130	11	1	5	1751	5	ATP13A4	3	193174805	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	193906	193174805	4847625	456	69385											
LSG1	55341	broad.mit.edu	37	chr3	194390864	194390864	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgagttcacttgtgtgcaActatgaaaaaacacagggtg	14	11	10	6	0	1	2	1	2	0	0	1	2	1	2	0	1	3	2	0	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:194390864A>G	ENST00000265245.5	-	2	414	c.99_splice	c.e2-1	p.L34_splice	LSG1_ENST00000480853.1_5'UTR	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	34					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CTTGTGTGCAACTATGAAAAA	0.433													22	64					0	0	0	0	G	194390864	A	G	194390864	5	3	364	1	0	0	0	0	0	0	1	0	9113	57	2	5	1928	5	LSG1	3	194390864	Splice_Site	SNP	A	TCGA-D6-6516-01A-11D-1870-08	1216059	194390864	3631566	457	69386											
MUC4	4585	broad.mit.edu	37	chr3	195516890	195516890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccagctgtccctgtagatgGatttcctgtgacaagcctag	8	11	11	11	0	0	2	0	1	0	1	2	3	2	3	4	1	2	2	4	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:195516890G>A	ENST00000463781.3	-	2	2020	c.1561C>T	c.(1561-1563)Cca>Tca	p.P521S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P521S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	526					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGTAGATGGATTTCCTGTG	0.532													25	79					0	0	0	0	A	195516890	G	A	195516890	3	1	364	1	0	0	0	0	1	0	0	0	10048	1174	41	2		2	MUC4	3	195516890	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1126026	195516890	2505540	458	69387											
KIAA0226	9711	broad.mit.edu	37	chr3	197427593	197427593	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctgagaagctggacctgcgGaggacactggacagctggct	9	7	15	10	1	1	1	0	1	1	1	1	6	1	5	1	5	3	3	1	5	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:197427593G>A	ENST00000273582.5	-	7	1517	c.972C>T	c.(970-972)ctC>ctT	p.L324L	KIAA0226_ENST00000296343.5_Silent_p.L384L|KIAA0226_ENST00000449205.1_Silent_p.L384L|KIAA0226_ENST00000389665.5_Silent_p.L384L	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	384	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)		TGGACCTGCGGAGGACACTGG	0.582													13	59					0	0	0	0	A	197427593	G	A	197427593	2	1	364	1	0	0	0	0	0	0	0	1	8213	1161	41	2		2	KIAA0226	3	197427593	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1910703	197427593	594837	459	69388											
KIAA0226	9711	broad.mit.edu	37	chr3	197432014	197432014	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccaccggatgtctttcacGaactgccagtaatccgtctg	9	10	9	13	3	3	0	1	0	2	0	4	2	4	1	4	1	3	1	4	1	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:197432014G>A	ENST00000273582.5	-	3	617	c.72C>T	c.(70-72)ttC>ttT	p.F24F	KIAA0226_ENST00000296343.5_Silent_p.F84F|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.F84F|KIAA0226_ENST00000389665.5_Silent_p.F84F	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	84					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)		TGTCTTTCACGAACTGCCAGT	0.562													6	31					0	0	0	0	A	197432014	G	A	197432014	2	1	364	1	0	0	0	0	0	0	0	1	8213	1049	37	1		1	KIAA0226	3	197432014	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4421	197432014	590416	460	69389											
DGKQ	1609	broad.mit.edu	37	chr4	961572	961572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacggcagcgctcccgtcgGcgccgtcgcccccctcgcct	2	5	11	23	8	0	0	0	0	0	0	4	0	1	0	7	2	1	2	7	2	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:961572G>A	ENST00000273814.3	-	7	903	c.830C>T	c.(829-831)gCc>gTc	p.A277V		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	277					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTCCCGTCGGCGCCGTCGCC	0.746													3	11					0	0	0	0	A	961572	G	A	961572	3	1	364	1	0	0	0	0	1	0	0	0	4510	1203	42	4	2066	4	DGKQ	4	961572	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08		961572	190192704	461	69390											
HTT	3064	broad.mit.edu	37	chr4	3230704	3230704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagctcagccaggaggaccCcggccatcctgatcagtgag	9	5	12	15	1	2	2	2	2	0	0	3	4	3	4	6	3	2	1	6	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:3230704C>T	ENST00000355072.5	+	59	8222	c.8077C>T	c.(8077-8079)Ccg>Tcg	p.P2693S	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2693					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAGGAGGACCCCGGCCATCCT	0.597													10	18					0	0	0	0	T	3230704	C	T	3230704	3	4	364	1	0	0	0	0	1	0	0	0	7510	623	22	4	8311	4	HTT	4	3230704	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2269132	3230704	187923572	462	69391											
DRD5	1816	broad.mit.edu	37	chr4	9784209	9784209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actggcacagggaccaggcgGcctcttggggcgggctggac	6	5	18	12	2	1	0	0	0	1	0	1	2	1	2	2	8	0	2	2	8	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:9784209G>A	ENST00000304374.2	+	1	952	c.556G>A	c.(556-558)Gcc>Acc	p.A186T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	186					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGACCAGGCGGCCTCTTGGGG	0.617													13	40					0	0	0	0	A	9784209	G	A	9784209	3	1	364	1	0	0	0	0	1	0	0	0	4796	1203	42	4	558	4	DRD5	4	9784209	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6553505	9784209	181370067	463	69392											
CC2D2A	57545	broad.mit.edu	37	chr4	15572023	15572023	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccacccttcctttaggaTgaccgtgaaagaggaagtgg	10	10	11	10	1	0	3	0	2	0	1	2	5	2	5	4	3	0	0	4	3	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:15572023T>A	ENST00000424120.1	+	28	3752	c.3498T>A	c.(3496-3498)gaT>gaA	p.D1166E	CC2D2A_ENST00000389652.5_Missense_Mutation_p.D1117E|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D1166E|CC2D2A_ENST00000503292.1_Missense_Mutation_p.D1166E			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1166	C2.				cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TCCTTTAGGATGACCGTGAAA	0.403													3	10					0	0	0	0	A	15572023	T	A	15572023	3	1	364	1	0	0	0	0	1	0	0	0	2753	1461	51	5	3807	5	CC2D2A	4	15572023	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	5787814	15572023	175582253	464	69393											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815563	23815563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtttatcactttcatcttCgctgtcatcaaacaggccat	10	14	5	12	1	5	0	4	0	1	0	6	0	5	0	1	1	1	2	1	1	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:23815563C>T	ENST00000264867.2	-	8	1662	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	515					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CTTTCATCTTCGCTGTCATCA	0.413													21	46					0	0	0	0	T	23815563	C	T	23815563	3	4	364	1	0	0	0	0	1	0	0	0	12371	893	31	1	877	1	PPARGC1A	4	23815563	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	8243540	23815563	167338713	465	69394											
SLC34A2	10568	broad.mit.edu	37	chr4	25665876	25665876	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccaagggattgggagattGattttacttctcggatttct	8	17	10	6	1	2	2	0	1	2	1	4	5	3	4	1	3	1	0	1	3	2	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:25665876G>A	ENST00000382051.3	+	4	353	c.303G>A	c.(301-303)ttG>ttA	p.L101L	SLC34A2_ENST00000504570.1_Silent_p.L100L|SLC34A2_ENST00000503434.1_Silent_p.L100L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	101					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTGGGAGATTGATTTTACTTC	0.478			T	ROS1	NSCLC								14	60					0	0	0	0	A	25665876	G	A	25665876	2	1	364	1	0	0	0	0	0	0	0	1	14656	1281	45	2		2	SLC34A2	4	25665876	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1850313	25665876	165488400	466	69395											
CCKAR	886	broad.mit.edu	37	chr4	26483501	26483501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggatgaaggaaatgggggttCctgagaggcggcgctctgcg	8	7	19	7	3	1	2	0	2	1	1	2	5	2	4	1	6	1	2	1	6	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:26483501C>T	ENST00000295589.3	-	5	1240	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	349					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AATGGGGGTTCCTGAGAGGCG	0.597													19	61					0	0	0	0	T	26483501	C	T	26483501	3	4	364	1	0	0	0	0	1	0	0	0	2907	855	30	2	244	2	CCKAR	4	26483501	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	817625	26483501	164670775	467	69396											
TBC1D1	23216	broad.mit.edu	37	chr4	38126639	38126639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtggctttaagtctgttgGgaagccataagcccttgatt	10	13	11	7	0	1	1	0	1	1	0	1	2	1	2	2	2	2	2	2	2	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:38126639G>A	ENST00000261439.4	+	18	3374	c.3019G>A	c.(3019-3021)Gga>Aga	p.G1007R	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Intron	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1007						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAGTCTGTTGGGAAGCCATAA	0.393													11	54					0	0	0	0	A	38126639	G	A	38126639	3	1	364	1	0	0	0	0	1	0	0	0	15688	1233	43	4	3085	4	TBC1D1	4	38126639	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	11643138	38126639	153027637	468	69397											
CHRNA9	55584	broad.mit.edu	37	chr4	40351346	40351346	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggagaaaaggtctccctGggagtgaccatcctgttggc	8	9	13	11	1	1	2	0	1	1	1	4	4	3	3	4	4	0	1	4	4	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:40351346G>T	ENST00000310169.2	+	4	952	c.813G>T	c.(811-813)ctG>ctT	p.L271L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	271					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGGTCTCCCTGGGAGTGACCA	0.507													43	163					1.52319e-26	1.5877e-26	1	0	T	40351346	G	T	40351346	2	4	364	1	0	0	0	0	0	0	0	1	3418	1335	47	4		4	CHRNA9	4	40351346	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2224707	40351346	150802930	469	69398											
KCTD8	386617	broad.mit.edu	37	chr4	44176945	44176945	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttagcttctcacagactttCtttttggacagatttgtttc	7	19	6	9	0	2	2	1	0	2	2	4	3	2	3	0	1	1	2	0	1	1	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:44176945C>T	ENST00000360029.3	-	2	1567	c.1284G>A	c.(1282-1284)aaG>aaA	p.K428K		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	428						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CACAGACTTTCTTTTTGGACA	0.418										HNSCC(17;0.042)			43	183					0	0	0	0	T	44176945	C	T	44176945	2	4	364	1	0	0	0	0	0	0	0	1	8168	912	32	2		2	KCTD8	4	44176945	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3825599	44176945	146977331	470	69399											
FRYL	285527	broad.mit.edu	37	chr4	48542476	48542476	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgaggtaaaacccttaagGaagagctgctgaagtcctgg	12	8	13	8	0	0	3	0	2	0	1	1	4	1	4	2	3	3	4	2	3	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:48542476G>A	ENST00000537810.1	-	46	6793	c.6189C>T	c.(6187-6189)ttC>ttT	p.F2063F	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Silent_p.F2063F|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Silent_p.F2063F			O94915	FRYL_HUMAN	FRY-like	2063					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AACCCTTAAGGAAGAGCTGCT	0.398													21	89					0	0	0	0	A	48542476	G	A	48542476	2	1	364	1	0	0	0	0	0	0	0	1	6112	1165	41	2		2	FRYL	4	48542476	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4365531	48542476	142611800	471	69400											
SPATA18	132671	broad.mit.edu	37	chr4	52938270	52938270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagaaacagctccgaaacCtgaaggaggagatagctgtt	16	7	11	7	1	0	3	0	1	0	2	1	6	1	4	2	2	4	3	2	2	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:52938270C>A	ENST00000295213.4	+	6	1080	c.706C>A	c.(706-708)Ctg>Atg	p.L236M	SPATA18_ENST00000419395.2_Missense_Mutation_p.L204M|SPATA18_ENST00000506829.1_3'UTR	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	236					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCTCCGAAACCTGAAGGAGGA	0.483													13	68					1.05317e-09	1.07542e-09	1	0	A	52938270	C	A	52938270	3	1	364	1	0	0	0	0	1	0	0	0	15093	680	24	4	728	4	SPATA18	4	52938270	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4395794	52938270	138216006	472	69401											
FIP1L1	81608	broad.mit.edu	37	chr4	54294260	54294260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaccacctccgtttttccctCcaggagctcctcccactcac	7	10	4	20	1	1	0	1	0	0	0	6	1	6	1	7	1	2	2	7	1	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:54294260C>T	ENST00000337488.6	+	13	1278	c.1084C>T	c.(1084-1086)Cca>Tca	p.P362S	FIP1L1_ENST00000306932.6_Missense_Mutation_p.P288S|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Missense_Mutation_p.P347S|FIP1L1_ENST00000507922.1_Missense_Mutation_p.P347S	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	362	Pro-rich.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTTTTTCCCTCCAGGAGctcc	0.468			T	PDGFRA	idiopathic hypereosinophilic syndrome								4	44					0	0	0	0	T	54294260	C	T	54294260	3	4	364	1	0	0	0	0	1	0	0	0	5941	855	30	2	1134	2	FIP1L1	4	54294260	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1355990	54294260	136860016	473	69402											
KIAA1211	57482	broad.mit.edu	37	chr4	57181222	57181222	+	Silent	SNP	G	G	A																															gcccttgaacaaggccgcaaGgtggaggagctgcggtggca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:57181222G>A	ENST00000504228.1	+	6	1659	c.1554G>A	c.(1552-1554)aaG>aaA	p.K518K	KIAA1211_ENST00000264229.6_Silent_p.K518K|KIAA1211_ENST00000541073.1_Silent_p.K511K			Q6ZU35	K1211_HUMAN	KIAA1211	518	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGCCGCAAGGTGGAGGAGC	0.642													5	27					0	0	0	0	A	57181222	G	A	57181222	2	1	364	1	0	0	0	0	0	0	0	1	8266	991	35	4		4	KIAA1211	4	57181222	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2886962	57181222	133973054	474	69403	873	2									
KIAA1211	57482	broad.mit.edu	37	chr4	57181223	57181223	+	Missense_Mutation	SNP	G	G	A																															cccttgaacaaggccgcaagGtggaggagctgcggtggcag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:57181223G>A	ENST00000504228.1	+	6	1660	c.1555G>A	c.(1555-1557)Gtg>Atg	p.V519M	KIAA1211_ENST00000264229.6_Missense_Mutation_p.V519M|KIAA1211_ENST00000541073.1_Missense_Mutation_p.V512M			Q6ZU35	K1211_HUMAN	KIAA1211	519	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGCCGCAAGGTGGAGGAGCT	0.642													5	27					0	0	0	0	A	57181223	G	A	57181223	3	1	364	1	0	0	0	0	1	0	0	0	8266	1261	44	4	1573	4	KIAA1211	4	57181223	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	57181223	133973053	475	69404	873	2									
ARL9	132946	broad.mit.edu	37	chr4	57389990	57389990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggctcagagataccctccaCcatgcaagatgccaaagact	13	7	8	13	0	1	3	1	0	0	3	2	4	2	3	4	1	3	2	4	1	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:57389990C>T	ENST00000360096.2	+	4	634	c.320C>T	c.(319-321)aCc>aTc	p.T107I		NM_206919.1	NP_996802.1	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	171							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					ATACCCTCCACCATGCAAGAT	0.488													8	50					0	0	0	0	T	57389990	C	T	57389990	3	4	364	1	0	0	0	0	1	0	0	0	952	507	18	4	330	4	ARL9	4	57389990	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	208767	57389990	133764286	476	69405											
UGT2B10	7365	broad.mit.edu	37	chr4	69682215	69682215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taccctgtggtgagctgctgGctgagctatttaacataccc	8	12	10	11	0	0	2	0	2	0	0	0	2	0	2	2	2	6	4	2	2	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:69682215G>C	ENST00000265403.7	+	1	505	c.478G>C	c.(478-480)Gct>Cct	p.A160P	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	160					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGAGCTGCTGGCTGAGCTATT	0.393													47	112					0	0	0	0	C	69682215	G	C	69682215	3	2	364	1	0	0	0	0	1	0	0	0	17052	1203	42	4	480	4	UGT2B10	4	69682215	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	12292225	69682215	121472061	477	69406											
UGT2B10	7365	broad.mit.edu	37	chr4	69682395	69682395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctatgtgctttattttGacttttggttccaaatattt	7	22	6	6	0	1	1	0	1	1	0	2	1	2	1	1	1	2	3	1	1	4	10			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:69682395G>T	ENST00000265403.7	+	1	685	c.658G>T	c.(658-660)Gac>Tac	p.D220Y	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	220					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCTTTATTTTGACTTTTGGTT	0.308													14	65					1.05317e-09	1.07542e-09	1	0	T	69682395	G	T	69682395	3	4	364	1	0	0	0	0	1	0	0	0	17052	1290	45	2	660	2	UGT2B10	4	69682395	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	180	69682395	121471881	478	69407											
UGT2B7	7364	broad.mit.edu	37	chr4	69962535	69962535	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagattaagagatggtcagaCcttccaaaagatacattttg	15	11	8	7	0	1	4	1	0	0	4	2	5	2	4	2	1	1	0	2	1	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:69962535C>T	ENST00000305231.7	+	1	343	c.297C>T	c.(295-297)gaC>gaT	p.D99D	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.D99D	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	99					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATGGTCAGACCTTCCAAAAG	0.323													21	59					0	0	0	0	T	69962535	C	T	69962535	2	4	364	1	0	0	0	0	0	0	0	1	17058	506	18	4		4	UGT2B7	4	69962535	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	280140	69962535	121191741	479	69408											
UGT2A1	10941	broad.mit.edu	37	chr4	70462099	70462099	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggataaattcttccatttCctgcatacataatatatttt	12	18	3	8	0	1	0	0	0	1	0	3	1	3	1	2	1	2	1	2	1	6	10			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:70462099C>T	ENST00000503640.1	-	3	920	c.864_splice	c.e3-1	p.E289_splice	UGT2A1_ENST00000514019.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000502343.1_Intron|UGT2A2_ENST00000457664.2_Splice_Site_p.E298_splice|UGT2A1_ENST00000286604.4_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	289					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTTCCATTTCCTGCATACAT	0.308													9	54					0	0	0	0	T	70462099	C	T	70462099	5	4	364	1	0	0	0	0	0	0	1	0	17049	869	30	2	734	2	UGT2A1	4	70462099	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	499564	70462099	120692177	480	69409											
CSN1S1	1446	broad.mit.edu	37	chr4	70810588	70810588	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttccagcagctcaaccaActtgctgcctacccctatgc	8	10	5	18	0	1	0	1	0	0	0	2	0	2	0	6	0	8	3	6	0	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:70810588A>G	ENST00000246891.4	+	15	472	c.423A>G	c.(421-423)caA>caG	p.Q141Q	CSN1S1_ENST00000505782.1_Silent_p.Q125Q|CSN1S1_ENST00000507772.1_Silent_p.Q133Q|CSN1S1_ENST00000507763.1_Silent_p.Q132Q|CSN1S1_ENST00000444405.3_Silent_p.Q132Q	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	141						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						AGCTCAACCAACTTGCTGCCT	0.423													123	249					0	0	0	0	G	70810588	A	G	70810588	2	3	364	1	0	0	0	0	0	0	0	1	3979	40	2	5		5	CSN1S1	4	70810588	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	348489	70810588	120343688	481	69410											
C4orf40	401137	broad.mit.edu	37	chr4	71020140	71020140	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtatgtgttgcttttgcaagGaaggtaagtaaatggacttc	11	14	12	4	0	0	0	0	0	0	0	1	2	0	2	0	3	2	6	0	3	6	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:71020140G>A	ENST00000344526.5	+	1	237	c.48G>A	c.(46-48)agG>agA	p.R16R	C4orf40_ENST00000502294.1_Silent_p.R16R|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	16						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						CTTTTGCAAGGAAGGTAAGTA	0.303													7	35					0	0	0	0	A	71020140	G	A	71020140	2	1	364	1	0	0	0	0	0	0	0	1	2290	1165	41	2		2	C4orf40	4	71020140	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	209552	71020140	120134136	482	69411											
ODAM	54959	broad.mit.edu	37	chr4	71068544	71068544	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgacagtgcaggagttttCatgccctcaacttcaccaaa	12	10	7	12	0	3	1	3	1	0	0	3	2	3	2	2	1	3	2	2	1	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:71068544C>T	ENST00000396094.2	+	9	768	c.720C>T	c.(718-720)ttC>ttT	p.F240F		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	240					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CAGGAGTTTTCATGCCCTCAA	0.408													13	34					0	0	0	0	T	71068544	C	T	71068544	2	4	364	1	0	0	0	0	0	0	0	1	10895	825	29	2		2	ODAM	4	71068544	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	48404	71068544	120085732	483	69412											
MUC7	4589	broad.mit.edu	37	chr4	71347144	71347144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacaccagctccaccatcttCctcagctccaccagagacca	11	7	4	19	0	2	1	1	0	1	1	5	2	5	1	7	0	3	2	7	0	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:71347144C>T	ENST00000413702.1	+	4	971	c.683C>T	c.(682-684)tCc>tTc	p.S228F	MUC7_ENST00000456088.1_Missense_Mutation_p.S228F|MUC7_ENST00000304887.5_Missense_Mutation_p.S228F	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	228	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCATCTTCCTCAGCTCCA	0.582													29	103					0	0	0	0	T	71347144	C	T	71347144	3	4	364	1	0	0	0	0	1	0	0	0	10051	855	30	2	689	2	MUC7	4	71347144	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	278600	71347144	119807132	484	69413											
SLC4A4	8671	broad.mit.edu	37	chr4	72397869	72397869	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggcgtggacaccccaaaaCtaattgtgccaagtgagttc	12	9	10	10	1	0	1	0	1	0	0	1	2	0	2	3	2	2	1	3	2	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:72397869C>T	ENST00000340595.3	+	14	2321	c.2125C>T	c.(2125-2127)Cta>Tta	p.L709L	SLC4A4_ENST00000264485.5_Silent_p.L753L|SLC4A4_ENST00000425175.1_Silent_p.L753L|SLC4A4_ENST00000351898.6_Silent_p.L753L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	753						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CACCCCAAAACTAATTGTGCC	0.383													7	47					0	0	0	0	T	72397869	C	T	72397869	2	4	364	1	0	0	0	0	0	0	0	1	14744	564	20	4		4	SLC4A4	4	72397869	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1050725	72397869	118756407	485	69414											
SLC4A4	8671	broad.mit.edu	37	chr4	72425848	72425848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcagaaaaggcatggactaCctcttctcccagcacgacct	11	8	8	14	1	3	1	1	0	2	1	4	3	3	2	3	2	2	2	3	2	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:72425848C>T	ENST00000340595.3	+	20	3040	c.2844C>T	c.(2842-2844)taC>taT	p.Y948Y	SLC4A4_ENST00000264485.5_Silent_p.Y992Y|SLC4A4_ENST00000425175.1_Silent_p.Y992Y|SLC4A4_ENST00000351898.6_Silent_p.Y908Y	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	992						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GCATGGACTACCTCTTCTCCC	0.408													29	107					0	0	0	0	T	72425848	C	T	72425848	2	4	364	1	0	0	0	0	0	0	0	1	14744	518	18	4		4	SLC4A4	4	72425848	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	27979	72425848	118728428	486	69415											
ALB	213	broad.mit.edu	37	chr4	74279194	74279194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgatctccagtaaactgaagGaatgctgtgaaaaacctctg	14	9	9	9	1	2	2	0	2	2	0	3	4	2	3	2	1	3	2	2	1	6	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:74279194G>A	ENST00000295897.4	+	8	990	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	ALB_ENST00000415165.2_Missense_Mutation_p.E109K|ALB_ENST00000509063.1_Missense_Mutation_p.E301K|ALB_ENST00000503124.1_Missense_Mutation_p.E151K|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.E186K	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	301	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TAAACTGAAGGAATGCTGTGA	0.408													19	54					0	0	0	0	A	74279194	G	A	74279194	3	1	364	1	0	0	0	0	1	0	0	0	486	1175	41	2	931	2	ALB	4	74279194	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1853346	74279194	116875082	487	69416											
BTC	685	broad.mit.edu	37	chr4	75673329	75673329	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttccatttcttcttctttCttctttcttttacgacgttt	3	25	3	10	2	6	0	0	0	6	0	7	1	7	0	1	0	1	2	1	0	1	10			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:75673329C>T	ENST00000395743.3	-	5	819	c.459G>A	c.(457-459)aaG>aaA	p.K153K		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	153	Arg/Lys-rich (basic).				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			CTTCTTCTTTCTTCTTTCTTT	0.353													15	59					0	0	0	0	T	75673329	C	T	75673329	2	4	364	1	0	0	0	0	0	0	0	1	1558	912	32	2		2	BTC	4	75673329	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1394135	75673329	115480947	488	69417											
C4orf26	152816	broad.mit.edu	37	chr4	76489445	76489445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtcacaagggcccagccCatcacaaagacacccaggtg	12	3	10	16	1	2	1	2	0	0	1	2	1	2	1	4	3	1	0	4	3	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:76489445C>T	ENST00000435974.2	+	3	251	c.233C>T	c.(232-234)cCa>cTa	p.P78L	C4orf26_ENST00000311623.4_Silent_p.P63P	NM_001206981.1	NP_001193910.1	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGGCCCAGCCCATCACAAAGA	0.527													18	69					0	0	0	0	T	76489445	C	T	76489445	3	4	364	1	0	0	0	0	1	0	0	0	2278	581	21	4	195	4	C4orf26	4	76489445	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	816116	76489445	114664831	489	69418											
SHROOM3	57619	broad.mit.edu	37	chr4	77631416	77631416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaagcagcgtggtcaggagGggttaaacttcggctgaagc	11	7	16	7	2	1	1	1	1	0	0	2	3	1	2	0	5	4	3	0	5	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:77631416G>A	ENST00000296043.6	+	3	1384	c.431G>A	c.(430-432)gGg>gAg	p.G144E	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	144					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGGTCAGGAGGGGTTAAACTT	0.567													7	43					0	0	0	0	A	77631416	G	A	77631416	3	1	364	1	0	0	0	0	1	0	0	0	14383	1232	43	4	441	4	SHROOM3	4	77631416	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1141971	77631416	113522860	490	69419											
FGF5	2250	broad.mit.edu	37	chr4	81188003	81188003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtccttcctcctcctcCtcttcttcagccacctgatc	3	15	4	19	0	3	1	1	1	2	0	9	1	8	1	7	0	1	1	7	0	0	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:81188003C>T	ENST00000456523.3	+	1	211	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	FGF5_ENST00000312465.7_Missense_Mutation_p.L9F	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	9					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CCTCCTCCTCCTCTTCTTCAG	0.627													3	68					0	0	0	0	T	81188003	C	T	81188003	3	4	364	1	0	0	0	0	1	0	0	0	5900	681	24	4	27	4	FGF5	4	81188003	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3556587	81188003	109966273	491	69420											
MAPK10	5602	broad.mit.edu	37	chr4	86988967	86988967	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccgctgggaagagggaaTctgggaagagtttggggaag	11	7	19	4	1	1	2	0	0	1	2	2	6	2	6	1	5	0	2	1	5	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:86988967T>G	ENST00000395169.3	-	10	1550	c.830A>C	c.(829-831)gAt>gCt	p.D277A	MAPK10_ENST00000449047.2_Missense_Mutation_p.D170A|MAPK10_ENST00000395161.2_Missense_Mutation_p.D315A|MAPK10_ENST00000395157.3_Missense_Mutation_p.D170A|MAPK10_ENST00000361569.2_Missense_Mutation_p.D315A|MAPK10_ENST00000395160.3_Missense_Mutation_p.D170A|MAPK10_ENST00000359221.3_Missense_Mutation_p.D315A|MAPK10_ENST00000395166.1_Missense_Mutation_p.D277A	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	315	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GAAGAGGGAATCTGGGAAGAG	0.493													21	32					0	0	0	0	G	86988967	T	G	86988967	3	3	364	1	0	0	0	0	1	0	0	0	9341	1435	50	5	475	5	MAPK10	4	86988967	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	5800964	86988967	104165309	492	69421											
AFF1	4299	broad.mit.edu	37	chr4	88047294	88047294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcaaagaaggaaatgctcCccccgccacccgtgtcctcg	9	6	8	18	3	1	1	1	0	0	1	4	2	3	2	7	1	1	1	7	1	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:88047294C>T	ENST00000307808.6	+	13	3016	c.2596C>T	c.(2596-2598)Ccc>Tcc	p.P866S	AFF1_ENST00000544085.1_Missense_Mutation_p.P504S|AFF1_ENST00000395146.4_Missense_Mutation_p.P873S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	866	Poly-Pro.					nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGAAATGCTCCCCCCGCCACC	0.577													15	60					0	0	0	0	T	88047294	C	T	88047294	3	4	364	1	0	0	0	0	1	0	0	0	356	623	22	4	2688	4	AFF1	4	88047294	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1058327	88047294	103106982	493	69422											
SPARCL1	8404	broad.mit.edu	37	chr4	88394947	88394947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaaacaagagattttcatCtatgtcctctataaaaaaac	18	12	3	8	0	4	1	2	0	2	1	5	2	5	1	1	0	2	0	1	0	9	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:88394947C>T	ENST00000418378.1	-	12	2546	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	SPARCL1_ENST00000282470.6_Missense_Mutation_p.D659N|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D534N	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	659					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AGATTTTCATCTATGTCCTCT	0.348													29	114					0	0	0	0	T	88394947	C	T	88394947	3	4	364	1	0	0	0	0	1	0	0	0	15086	913	32	2	23	2	SPARCL1	4	88394947	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	347653	88394947	102759329	494	69423											
IBSP	3381	broad.mit.edu	37	chr4	88732536	88732536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggatataacaaataaagCtacaaaagagaaggaaagtg	21	6	11	3	0	0	1	0	0	0	1	0	4	0	3	0	3	3	1	0	3	10	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:88732536C>T	ENST00000226284.5	+	7	495	c.428C>T	c.(427-429)gCt>gTt	p.A143V		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	143	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACAAATAAAGCTACAAAAGAG	0.383													8	19					0	0	0	0	T	88732536	C	T	88732536	3	4	364	1	0	0	0	0	1	0	0	0	7528	797	28	4	450	4	IBSP	4	88732536	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	337589	88732536	102421740	495	69424											
MEPE	56955	broad.mit.edu	37	chr4	88767143	88767143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaggttgagtttcattacCctcctgcaccctcaaaagag	11	10	9	11	0	2	2	2	1	0	1	3	3	3	3	3	2	2	3	3	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:88767143C>A	ENST00000497649.2	+	6	1429	c.1051C>A	c.(1051-1053)Cct>Act	p.P351T	MEPE_ENST00000424957.3_Missense_Mutation_p.P375T|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.P262T|MEPE_ENST00000560249.1_Missense_Mutation_p.P262T|MEPE_ENST00000395102.4_Missense_Mutation_p.P406T|MEPE_ENST00000361056.3_Missense_Mutation_p.P375T			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	375					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GTTTCATTACCCTCCTGCACC	0.443													8	29					0.307466	0.308149	1	0	A	88767143	C	A	88767143	3	1	364	1	0	0	0	0	1	0	0	0	9547	623	22	4	1133	4	MEPE	4	88767143	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	34607	88767143	102387133	496	69425											
UNC5C	8633	broad.mit.edu	37	chr4	96091343	96091343	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccagcatcctccagtcAtggcctctcgtctggggggc	4	9	14	14	1	3	0	1	0	2	0	6	0	5	0	4	5	1	1	4	5	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:96091343A>T	ENST00000453304.1	-	15	2940	c.2592T>A	c.(2590-2592)caT>caA	p.H864Q		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	864	Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCTCCAGTCATGGCCTCTCG	0.587													55	120					0	0	0	0	T	96091343	A	T	96091343	3	4	364	1	0	0	0	0	1	0	0	0	17089	214	8	5	211	5	UNC5C	4	96091343	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	7324200	96091343	95062933	497	69426											
UNC5C	8633	broad.mit.edu	37	chr4	96106245	96106245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagagggaatgggcgatatCgtgaattgacaggcgcaggt	11	7	16	7	3	0	3	0	2	0	1	1	5	0	4	1	4	0	1	1	4	3	2	rs139502011	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:96106245C>T	ENST00000453304.1	-	13	2587	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	747					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.D747N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGGCGATATCGTGAATTGAC	0.463													21	93					0	0	0	0	T	96106245	C	T	96106245	3	4	364	1	0	0	0	0	1	0	0	0	17089	884	31	1	572	1	UNC5C	4	96106245	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	14902	96106245	95048031	498	69427											
LRIT3	345193	broad.mit.edu	37	chr4	110788925	110788925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacctgagcgcctcacaGgaattttgtttcagcgggct	8	11	12	10	2	2	2	2	2	0	0	2	3	2	3	2	2	3	2	2	2	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:110788925G>A	ENST00000327908.3	+	3	933	c.169G>A	c.(169-171)Gga>Aga	p.G57R	LRIT3_ENST00000409621.2_Missense_Mutation_p.G57R|LRIT3_ENST00000379920.3_Missense_Mutation_p.G195R|LRIT3_ENST00000594814.1_Missense_Mutation_p.G240R			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	195						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GCGCCTCACAGGAATTTTGTT	0.458													33	59					0	0	0	0	A	110788925	G	A	110788925	3	1	364	1	0	0	0	0	1	0	0	0	9013	1001	35	4	589	4	LRIT3	4	110788925	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	14682680	110788925	80365351	499	69428											
EGF	1950	broad.mit.edu	37	chr4	110884392	110884392	+	Nonsense_Mutation	SNP	G	G	A																															tcctcttagcccagtatcctGggaatgtgattgctttcctg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:110884392G>A	ENST00000265171.5	+	9	1821	c.1376G>A	c.(1375-1377)tGg>tAg	p.W459*	EGF_ENST00000509793.1_Nonsense_Mutation_p.W417*|EGF_ENST00000503392.1_Nonsense_Mutation_p.W459*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	459	EGF-like 4.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CCAGTATCCTGGGAATGTGAT	0.458													25	113					0	0	0	0	A	110884392	G	A	110884392	4	1	364	1	0	0	0	0	0	1	0	0	4998	1357	47	4	1410	4	EGF	4	110884392	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	95467	110884392	80269884	500	69429	874	2									
EGF	1950	broad.mit.edu	37	chr4	110884393	110884393	+	Nonsense_Mutation	SNP	G	G	A																															cctcttagcccagtatcctgGgaatgtgattgctttcctgg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:110884393G>A	ENST00000265171.5	+	9	1822	c.1377G>A	c.(1375-1377)tgG>tgA	p.W459*	EGF_ENST00000509793.1_Nonsense_Mutation_p.W417*|EGF_ENST00000503392.1_Nonsense_Mutation_p.W459*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	459	EGF-like 4.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CAGTATCCTGGGAATGTGATT	0.458													24	112					0	0	0	0	A	110884393	G	A	110884393	4	1	364	1	0	0	0	0	0	1	0	0	4998	1241	43	4	1411	4	EGF	4	110884393	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	110884393	80269883	501	69430	874	2									
ANKRD50	57182	broad.mit.edu	37	chr4	125590149	125590149	+	Missense_Mutation	SNP	G	G	A																															aaaatattaccttttataatGgtgtttcctttttatagttg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:125590149G>A	ENST00000504087.1	-	4	5320	c.4283C>T	c.(4282-4284)cCa>cTa	p.P1428L	ANKRD50_ENST00000515641.1_Missense_Mutation_p.P1249L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1428										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTTTTATAATGGTGTTTCCTT	0.378													15	33					0	0	0	0	A	125590149	G	A	125590149	3	1	364	1	0	0	0	0	1	0	0	0	676	1348	47	4	10	4	ANKRD50	4	125590149	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	14705756	125590149	65564127	502	69431	875	2									
ANKRD50	57182	broad.mit.edu	37	chr4	125590150	125590150	+	Missense_Mutation	SNP	G	G	A																															aaatattaccttttataatgGtgtttcctttttatagttga																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:125590150G>A	ENST00000504087.1	-	4	5319	c.4282C>T	c.(4282-4284)Cca>Tca	p.P1428S	ANKRD50_ENST00000515641.1_Missense_Mutation_p.P1249S	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1428										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTATAATGGTGTTTCCTTT	0.378													15	33					0	0	0	0	A	125590150	G	A	125590150	3	1	364	1	0	0	0	0	1	0	0	0	676	1261	44	4	11	4	ANKRD50	4	125590150	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	125590150	65564126	503	69432	875	2									
FAT4	79633	broad.mit.edu	37	chr4	126241562	126241562	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaacatgagaattggtgaActcgtgtcctctgttactgc	11	12	10	8	1	1	2	0	2	1	1	3	4	2	2	1	1	4	1	1	1	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:126241562A>G	ENST00000394329.3	+	1	4009	c.3996A>G	c.(3994-3996)gaA>gaG	p.E1332E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1332	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAATTGGTGAACTCGTGTCCT	0.348													14	98					0	0	0	0	G	126241562	A	G	126241562	2	3	364	1	0	0	0	0	0	0	0	1	5737	40	2	5		5	FAT4	4	126241562	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	651412	126241562	64912714	504	69433											
FAT4	79633	broad.mit.edu	37	chr4	126411359	126411359	+	Missense_Mutation	SNP	C	C	T																															agactcgcacacgggaaggaCctgtgagatggtggtggcct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:126411359C>T	ENST00000394329.3	+	17	13395	c.13382C>T	c.(13381-13383)aCc>aTc	p.T4461I	FAT4_ENST00000335110.5_Missense_Mutation_p.T2702I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4461	EGF-like 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACGGGAAGGACCTGTGAGATG	0.632													17	57					0	0	0	0	T	126411359	C	T	126411359	3	4	364	1	0	0	0	0	1	0	0	0	5737	507	18	4	13448	4	FAT4	4	126411359	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	169797	126411359	64742917	505	69434	876	2									
FAT4	79633	broad.mit.edu	37	chr4	126411360	126411360	+	Silent	SNP	C	C	T																															gactcgcacacgggaaggacCtgtgagatggtggtggcctg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:126411360C>T	ENST00000394329.3	+	17	13396	c.13383C>T	c.(13381-13383)acC>acT	p.T4461T	FAT4_ENST00000335110.5_Silent_p.T2702T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4461	EGF-like 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGGGAAGGACCTGTGAGATGG	0.632													17	57					0	0	0	0	T	126411360	C	T	126411360	2	4	364	1	0	0	0	0	0	0	0	1	5737	668	24	4		4	FAT4	4	126411360	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	126411360	64742916	506	69435	876	2									
HHIP	64399	broad.mit.edu	37	chr4	145580019	145580019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggttgtgctttccagattttCcaagaaaacaagtcagagga	13	11	10	7	0	1	3	1	0	0	3	3	4	3	4	2	2	2	2	2	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:145580019C>T	ENST00000296575.3	+	3	1205	c.550C>T	c.(550-552)Cca>Tca	p.P184S	HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.P184S	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	184						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TCCAGATTTTCCAAGAAAACA	0.373													28	85					0	0	0	0	T	145580019	C	T	145580019	3	4	364	1	0	0	0	0	1	0	0	0	7142	855	30	2	560	2	HHIP	4	145580019	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	19168659	145580019	45574257	507	69436											
MAB21L2	10586	broad.mit.edu	37	chr4	151504695	151504695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctatgtggtgcaaatcactCcggcgttcaagtgcaccggg	8	9	13	11	3	2	0	2	0	0	0	3	0	3	0	2	3	2	4	2	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:151504695C>T	ENST00000317605.4	+	1	1619	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	172					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCAAATCACTCCGGCGTTCAA	0.637													10	46					0	0	0	0	T	151504695	C	T	151504695	3	4	364	1	0	0	0	0	1	0	0	0	9207	855	30	2	516	2	MAB21L2	4	151504695	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5924676	151504695	39649581	508	69437											
RNF175	285533	broad.mit.edu	37	chr4	154641439	154641439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acacaatgccaaaatccatgGaatctctagctttgattcta	14	12	5	10	0	2	1	0	1	2	0	4	2	3	2	2	1	2	1	2	1	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:154641439G>A	ENST00000274068.4	-	5	519	c.143C>T	c.(142-144)tCc>tTc	p.S48F	RNF175_ENST00000347063.4_Missense_Mutation_p.S176F|RNF175_ENST00000506505.1_5'UTR			Q8N4F7	RN175_HUMAN	ring finger protein 175	176						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				AAAATCCATGGAATCTCTAGC	0.398													16	62					0	0	0	0	A	154641439	G	A	154641439	3	1	364	1	0	0	0	0	1	0	0	0	13548	1174	41	2	475	2	RNF175	4	154641439	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3136744	154641439	36512837	509	69438											
DCHS2	54798	broad.mit.edu	37	chr4	155157613	155157613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgaattttgtcattttttCataatccagaggtttaatca	11	18	7	5	0	3	2	3	1	0	1	4	2	4	2	1	2	0	1	1	2	3	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:155157613C>T	ENST00000357232.3	-	25	6825	c.6826G>A	c.(6826-6828)Gaa>Aaa	p.E2276K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2276	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCATTTTTTCATAATCCAGA	0.343													15	76					0	0	0	0	T	155157613	C	T	155157613	3	4	364	1	0	0	0	0	1	0	0	0	4320	835	29	2	1928	2	DCHS2	4	155157613	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	516174	155157613	35996663	510	69439											
FGG	2266	broad.mit.edu	37	chr4	155533728	155533728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaagagcatagaagtagaGaattaaattccgggggtgca	17	8	12	4	1	0	3	0	0	0	3	1	4	1	3	1	2	2	3	1	2	8	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:155533728G>A	ENST00000404648.3	-	1	273	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	FGG_ENST00000336098.3_Missense_Mutation_p.L12F|FGG_ENST00000407946.1_Missense_Mutation_p.L12F|FGG_ENST00000405164.1_Missense_Mutation_p.L12F	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	12					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAGAAGTAGAGAATTAAATTC	0.438													12	65					0	0	0	0	A	155533728	G	A	155533728	3	1	364	1	0	0	0	0	1	0	0	0	5915	942	33	2	1382	2	FGG	4	155533728	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	376115	155533728	35620548	511	69440											
WDR17	116966	broad.mit.edu	37	chr4	177041154	177041154	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaaagatgctcatagcttCttgtctgatatctgtatgtt	10	16	7	8	0	4	2	1	1	3	1	4	2	4	2	0	0	2	4	0	0	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:177041154C>T	ENST00000393643.2	+	4	696	c.444C>T	c.(442-444)ttC>ttT	p.F148F	WDR17_ENST00000508596.1_Silent_p.F148F|WDR17_ENST00000507824.2_Silent_p.F172F|WDR17_ENST00000280190.4_Silent_p.F172F	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	172										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTCATAGCTTCTTGTCTGATA	0.423													29	125					0	0	0	0	T	177041154	C	T	177041154	2	4	364	1	0	0	0	0	0	0	0	1	17373	912	32	2		2	WDR17	4	177041154	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	21507426	177041154	14113122	512	69441											
WDR17	116966	broad.mit.edu	37	chr4	177077242	177077242	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgtagtgggacaaagccCtgtcaattgcaccaggagtc	11	10	11	9	0	1	0	1	0	0	0	2	2	1	2	2	2	2	2	2	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:177077242C>T	ENST00000393643.2	+	18	2725	c.2473C>T	c.(2473-2475)Ctg>Ttg	p.L825L	WDR17_ENST00000508596.1_Silent_p.L825L|WDR17_ENST00000507824.2_Silent_p.L832L|WDR17_ENST00000280190.4_Silent_p.L849L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	849										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGACAAAGCCCTGTCAATTGC	0.373													27	108					0	0	0	0	T	177077242	C	T	177077242	2	4	364	1	0	0	0	0	0	0	0	1	17373	680	24	4		4	WDR17	4	177077242	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	36088	177077242	14077034	513	69442											
SORBS2	8470	broad.mit.edu	37	chr4	186536271	186536271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taccaattttgatcaattttCctgaggatgtagacagtatc	12	15	7	7	0	1	3	1	2	0	1	3	4	2	4	2	1	1	2	2	1	5	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:186536271C>T	ENST00000431808.1	-	17	3245	c.2682G>A	c.(2680-2682)agG>agA	p.R894R	SORBS2_ENST00000284776.7_Silent_p.R894R|SORBS2_ENST00000319471.9_Silent_p.R525R|SORBS2_ENST00000448662.2_Silent_p.R455R|SORBS2_ENST00000418609.1_Silent_p.R798R|SORBS2_ENST00000437304.2_Silent_p.R618R|SORBS2_ENST00000393528.3_Silent_p.R460R|SORBS2_ENST00000355634.5_Silent_p.R994R|SORBS2_ENST00000449407.2_Silent_p.R438R|SORBS2_ENST00000498125.1_5'UTR			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	894	SH3 1.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GATCAATTTTCCTGAGGATGT	0.438													20	82					0	0	0	0	T	186536271	C	T	186536271	2	4	364	1	0	0	0	0	0	0	0	1	15016	854	30	2		2	SORBS2	4	186536271	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	9459029	186536271	4618005	514	69443											
SDHA	6389	broad.mit.edu	37	chr5	251133	251133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaaatcatgctgccgtgttCcgtgtgggaagcgtgttgca	8	11	13	9	3	1	0	1	0	0	0	2	1	2	1	2	1	4	4	2	1	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:251133C>T	ENST00000264932.6	+	12	1693	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Silent_p.F478F	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	526					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CTGCCGTGTTCCGTGTGGGAA	0.448									Familial Paragangliomas				15	81					0	0	0	0	T	251133	C	T	251133	2	4	364	1	0	0	0	0	0	0	0	1	14050	854	30	2		2	SDHA	5	251133	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08		251133	180664127	515	69444											
AHRR	57491	broad.mit.edu	37	chr5	376767	376767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagcctgcggccggcgcccCctcgcccggagacagctgtc	4	4	14	19	5	0	1	0	0	0	1	2	2	0	1	5	3	3	2	5	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:376767C>T	ENST00000316418.5	+	4	343	c.299C>T	c.(298-300)cCc>cTc	p.P100L	AHRR_ENST00000505113.1_Missense_Mutation_p.P100L|AHRR_ENST00000512529.1_Intron	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCGGCGCCCCCTCGCCCGGA	0.627													6	19					0	0	0	0	T	376767	C	T	376767	3	4	364	1	0	0	0	0	1	0	0	0	417	623	22	4	313	4	AHRR	5	376767	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	125634	376767	180538493	516	69445											
SLC6A18	348932	broad.mit.edu	37	chr5	1240774	1240774	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacgagcactgcctggacaGgtgagcacaggtgccgcgcc	8	5	14	14	3	0	1	0	1	0	0	0	3	0	2	3	3	5	2	3	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:1240774G>A	ENST00000324642.3	+	7	1097	c.974_splice	c.e7+1	p.R325_splice	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	325					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)			TGCCTGGACAGGTGAGCACAG	0.622													9	29					0	0	0	0	A	1240774	G	A	1240774	5	1	364	1	0	0	0	0	0	0	1	0	14769	1014	35	4	1000	4	SLC6A18	5	1240774	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	864007	1240774	179674486	517	69446											
SEMA5A	9037	broad.mit.edu	37	chr5	9224870	9224870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatggcaggatcacgtcctgGaaaatccatggctgtagcag	12	8	12	9	1	1	0	1	0	0	0	3	2	3	2	2	4	1	4	2	4	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:9224870G>A	ENST00000382496.5	-	8	1227	c.562C>T	c.(562-564)Cca>Tca	p.P188S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	188	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCACGTCCTGGAAAATCCATG	0.562													9	33					0	0	0	0	A	9224870	G	A	9224870	3	1	364	1	0	0	0	0	1	0	0	0	14124	1174	41	2	2726	2	SEMA5A	5	9224870	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	7984096	9224870	171690390	518	69447											
CTNND2	1501	broad.mit.edu	37	chr5	11159760	11159760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgatcatcctgaagaggcGaattttcccagcctgagtgg	9	10	11	11	2	1	3	1	2	0	1	4	5	4	3	4	2	1	0	4	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:11159760G>A	ENST00000304623.8	-	12	2276	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.S359L|CTNND2_ENST00000458100.2_Missense_Mutation_p.S263L|CTNND2_ENST00000511377.1_Missense_Mutation_p.S605L|CTNND2_ENST00000359640.2_Missense_Mutation_p.S696L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	696					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGAAGAGGCGAATTTTCCCA	0.537													24	87					0	0	0	0	A	11159760	G	A	11159760	3	1	364	1	0	0	0	0	1	0	0	0	4052	1059	37	1	1634	1	CTNND2	5	11159760	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1934890	11159760	169755500	519	69448											
DNAH5	1767	broad.mit.edu	37	chr5	13717484	13717484	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagtggcattaaagtcCgcttggttaaattcgtaggg	10	12	12	7	2	0	0	0	0	0	0	2	0	1	0	1	3	1	5	1	3	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:13717484C>T	ENST00000265104.4	-	73	12749	c.12645G>A	c.(12643-12645)gcG>gcA	p.A4215A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4215	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATTAAAGTCCGCTTGGTTAA	0.537									Kartagener syndrome				4	28					0	0	0	0	T	13717484	C	T	13717484	2	4	364	1	0	0	0	0	0	0	0	1	4641	639	23	1		1	DNAH5	5	13717484	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2557724	13717484	167197776	520	69449											
DNAH5	1767	broad.mit.edu	37	chr5	13719151	13719151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtttctatgattatgtcCatcagctcatccatgaaatc	11	15	5	10	0	4	2	3	2	1	0	7	2	6	2	2	0	1	2	2	0	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:13719151C>T	ENST00000265104.4	-	72	12443	c.12339G>A	c.(12337-12339)atG>atA	p.M4113I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4113	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATTATGTCCATCAGCTCAT	0.453									Kartagener syndrome				15	55					0	0	0	0	T	13719151	C	T	13719151	3	4	364	1	0	0	0	0	1	0	0	0	4641	594	21	4	1567	4	DNAH5	5	13719151	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1667	13719151	167196109	521	69450											
DNAH5	1767	broad.mit.edu	37	chr5	13766128	13766128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgcagtcatcaattttaagGattcctgccaggagggcatg	10	11	11	9	0	2	0	2	0	0	0	3	2	3	2	2	3	2	2	2	3	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:13766128G>A	ENST00000265104.4	-	59	10162	c.10058C>T	c.(10057-10059)tCc>tTc	p.S3353F	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3353	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAATTTTAAGGATTCCTGCCA	0.448									Kartagener syndrome				29	121					0	0	0	0	A	13766128	G	A	13766128	3	1	364	1	0	0	0	0	1	0	0	0	4641	1174	41	2	3900	2	DNAH5	5	13766128	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	46977	13766128	167149132	522	69451											
MYO10	4651	broad.mit.edu	37	chr5	16668425	16668425	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctccctctcatcgaccacGatcttatacgtattcgccag	9	11	6	15	4	2	0	1	0	2	0	6	2	3	0	3	0	2	2	3	0	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:16668425G>A	ENST00000513610.1	-	40	6490	c.6036C>T	c.(6034-6036)atC>atT	p.I2012I	MYO10_ENST00000515803.1_Silent_p.I1351I|MYO10_ENST00000505695.1_Silent_p.I1351I|MYO10_ENST00000427430.2_Silent_p.I1369I|MYO10_ENST00000274203.9_Silent_p.I1369I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	2012	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.I2012I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CATCGACCACGATCTTATACG	0.478													71	102					0	0	0	0	A	16668425	G	A	16668425	2	1	364	1	0	0	0	0	0	0	0	1	10132	1048	37	1		1	MYO10	5	16668425	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2902297	16668425	164246835	523	69452											
PRDM9	56979	broad.mit.edu	37	chr5	23522980	23522980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaagaggcagccaacaatGgatactcctggctggtaaga	14	6	12	9	1	0	2	0	0	0	2	1	4	1	3	2	4	3	3	2	4	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:23522980G>A	ENST00000296682.3	+	8	1050	c.868G>A	c.(868-870)Gga>Aga	p.G290R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	290	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGCCAACAATGGATACTCCTG	0.512										HNSCC(3;0.000094)			15	67					0	0	0	0	A	23522980	G	A	23522980	3	1	364	1	0	0	0	0	1	0	0	0	12543	1349	47	4	894	4	PRDM9	5	23522980	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6854555	23522980	157392280	524	69453											
PRDM9	56979	broad.mit.edu	37	chr5	23526913	23526913	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacctcctcattcaccagagGatacacacaggggagaagcc	13	5	9	14	0	2	2	2	0	0	2	3	4	3	3	4	3	2	0	4	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:23526913G>A	ENST00000296682.3	+	11	1898	c.1716G>A	c.(1714-1716)agG>agA	p.R572R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	572					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TTCACCAGAGGATACACACAG	0.562										HNSCC(3;0.000094)			63	89					0	0	0	0	A	23526913	G	A	23526913	2	1	364	1	0	0	0	0	0	0	0	1	12543	1165	41	2		2	PRDM9	5	23526913	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3933	23526913	157388347	525	69454											
ADAMTS12	81792	broad.mit.edu	37	chr5	33684050	33684050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcggccaccaccagtgtctCcacccatctctccttgctga	6	10	7	18	1	2	1	0	1	2	0	6	1	3	1	6	1	1	1	6	1	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:33684050C>T	ENST00000504830.1	-	4	1080	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E249K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	249	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E249K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACCAGTGTCTCCACCCATCTC	0.527										HNSCC(64;0.19)			31	126					0	0	0	0	T	33684050	C	T	33684050	3	4	364	1	0	0	0	0	1	0	0	0	257	864	30	2	4123	2	ADAMTS12	5	33684050	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	10157137	33684050	147231210	526	69455											
NIPBL	25836	broad.mit.edu	37	chr5	36986250	36986250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagacaaagtagaaaaaataGgattagttgaagatctaaat	22	9	8	2	0	1	4	0	1	1	3	1	5	1	5	0	1	0	2	0	1	11	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:36986250G>A	ENST00000282516.8	+	10	3467	c.2968G>A	c.(2968-2970)Gga>Aga	p.G990R	NIPBL_ENST00000448238.2_Missense_Mutation_p.G990R|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	990					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGAAAAAATAGGATTAGTTGA	0.353													34	160					0	0	0	0	A	36986250	G	A	36986250	3	1	364	1	0	0	0	0	1	0	0	0	10498	1001	35	4	3002	4	NIPBL	5	36986250	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3302200	36986250	143929010	527	69456											
LIFR	3977	broad.mit.edu	37	chr5	38482070	38482070	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatcgactgaacatcaatgTaaataacctgtgcagtccct	14	10	6	11	1	1	1	1	1	0	0	3	2	2	1	2	0	3	2	2	0	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:38482070T>G	ENST00000263409.4	-	20	3083	c.2921A>C	c.(2920-2922)tAc>tCc	p.Y974S	LIFR_ENST00000453190.2_Missense_Mutation_p.Y974S	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	974					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AACATCAATGTAAATAACCTG	0.473			T	PLAG1	salivary adenoma								37	134					0	0	0	0	G	38482070	T	G	38482070	3	3	364	1	0	0	0	0	1	0	0	0	8834	1638	57	5	376	5	LIFR	5	38482070	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1495820	38482070	142433190	528	69457											
FYB	2533	broad.mit.edu	37	chr5	39202420	39202420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaagacacattcttcatggGgctttcgtcttcatgggagt	8	14	11	8	1	4	2	2	1	2	1	5	3	4	3	0	3	0	1	0	3	1	4	rs138788331	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:39202420G>A	ENST00000351578.6	-	2	833	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	FYB_ENST00000540520.1_Missense_Mutation_p.P225S|FYB_ENST00000512982.1_Missense_Mutation_p.P215S|FYB_ENST00000515010.1_Missense_Mutation_p.P215S|FYB_ENST00000505428.1_Missense_Mutation_p.P215S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	215					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTCTTCATGGGGCTTTCGTCT	0.527													18	95					0	0	0	0	A	39202420	G	A	39202420	3	1	364	1	0	0	0	0	1	0	0	0	6172	1232	43	4	1918	4	FYB	5	39202420	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	720350	39202420	141712840	529	69458											
C6	729	broad.mit.edu	37	chr5	41158837	41158837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaatctgcttctatctcaGgaagatcgacctctttcatt	9	14	7	11	2	5	1	2	0	4	1	7	4	5	3	1	2	1	1	1	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:41158837G>A	ENST00000263413.3	-	13	2171	c.1907C>T	c.(1906-1908)cCt>cTt	p.P636L	C6_ENST00000337836.5_Missense_Mutation_p.P636L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	636					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTCTATCTCAGGAAGATCGAC	0.393													19	35					0	0	0	0	A	41158837	G	A	41158837	3	1	364	1	0	0	0	0	1	0	0	0	2336	1000	35	4	921	4	C6	5	41158837	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1956417	41158837	139756423	530	69459											
C6	729	broad.mit.edu	37	chr5	41161795	41161795	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaataatttttactcttacCtcaaagtcaatcacagcagg	14	12	6	9	0	4	0	3	0	1	0	4	1	4	1	1	2	3	1	1	2	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:41161795C>A	ENST00000263413.3	-	10	1722	c.1458_splice	c.e10+1	p.E486_splice	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Splice_Site_p.E486_splice	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	486	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTACTCTTACCTCAAAGTCAA	0.398													23	39					1.64293e-13	1.69039e-13	1	0	A	41161795	C	A	41161795	5	1	364	1	0	0	0	0	0	0	1	0	2336	695	24	4	1382	4	C6	5	41161795	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2958	41161795	139753465	531	69460											
PLCXD3	345557	broad.mit.edu	37	chr5	41313799	41313799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcaccaagttctacaaaatCggcagtgacaatattgatgc	14	10	8	9	1	2	2	1	2	1	0	3	2	2	2	1	1	2	2	1	1	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:41313799C>T	ENST00000377801.3	-	3	960	c.886G>A	c.(886-888)Gat>Aat	p.D296N	PLCXD3_ENST00000328457.3_Missense_Mutation_p.D296N			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	296					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTACAAAATCGGCAGTGACA	0.448													20	31					0	0	0	0	T	41313799	C	T	41313799	3	4	364	1	0	0	0	0	1	0	0	0	12115	884	31	1	83	1	PLCXD3	5	41313799	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	152004	41313799	139601461	532	69461											
GHR	2690	broad.mit.edu	37	chr5	42719110	42719110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcaggtagtgtggtcCtttccccgggccaaaagaat	10	8	11	12	1	0	1	0	0	0	1	2	1	2	1	5	3	1	2	5	3	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:42719110C>T	ENST00000230882.4	+	10	1691	c.1501C>T	c.(1501-1503)Ctt>Ttt	p.L501F	GHR_ENST00000537449.1_Missense_Mutation_p.L314F|GHR_ENST00000357703.3_Missense_Mutation_p.L479F	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	501					2-oxoglutarate metabolic process|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|JAK-STAT cascade|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)	TAGTGTGGTCCTTTCCCCGGG	0.488													19	38					0	0	0	0	T	42719110	C	T	42719110	3	4	364	1	0	0	0	0	1	0	0	0	6422	681	24	4	1535	4	GHR	5	42719110	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1405311	42719110	138196150	533	69462											
EMB	133418	broad.mit.edu	37	chr5	49707071	49707071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttcctgttgcactgacaaGataattattctcaagttgtt	10	16	7	8	0	1	2	1	1	1	1	3	2	2	2	1	0	1	5	1	0	4	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:49707071G>A	ENST00000303221.5	-	3	558	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	EMB_ENST00000514111.1_Missense_Mutation_p.L65F|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Intron	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	115	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GCACTGACAAGATAATTATTC	0.348													20	60					0	0	0	0	A	49707071	G	A	49707071	3	1	364	1	0	0	0	0	1	0	0	0	5123	942	33	2	668	2	EMB	5	49707071	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6987961	49707071	131208189	534	69463											
DDX4	54514	broad.mit.edu	37	chr5	55056103	55056103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcggaattttggaaacaGaggtaagcatctttgtcttt	10	14	12	5	1	2	1	0	0	2	1	2	3	2	3	0	4	2	2	0	4	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:55056103G>A	ENST00000505374.1	+	4	295	c.203G>A	c.(202-204)aGa>aAa	p.R68K	DDX4_ENST00000508580.1_3'UTR|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000353507.5_Missense_Mutation_p.R68K|DDX4_ENST00000354991.5_Missense_Mutation_p.R68K|DDX4_ENST00000514278.2_Missense_Mutation_p.R68K	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	68	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTGGAAACAGAGGTAAGCAT	0.373													19	60					0	0	0	0	A	55056103	G	A	55056103	3	1	364	1	0	0	0	0	1	0	0	0	4392	942	33	2	213	2	DDX4	5	55056103	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5349032	55056103	125859157	535	69464											
IL31RA	133396	broad.mit.edu	37	chr5	55195921	55195921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ataattctcttgggaagtctCcagtggccaccctgaggatt	9	12	10	10	0	2	1	0	1	2	0	4	3	2	3	3	3	0	0	3	3	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:55195921C>T	ENST00000396834.1	+	10	1469	c.973C>T	c.(973-975)Cca>Tca	p.P325S	IL31RA_ENST00000447346.2_Missense_Mutation_p.P344S|IL31RA_ENST00000490985.1_Missense_Mutation_p.P202S|IL31RA_ENST00000396836.2_Missense_Mutation_p.P344S|IL31RA_ENST00000359040.5_Missense_Mutation_p.P344S|IL31RA_ENST00000354961.4_Missense_Mutation_p.P325S|IL31RA_ENST00000297015.3_Missense_Mutation_p.P202S	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	312	Fibronectin type-III 4.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGGAAGTCTCCAGTGGCCAC	0.458													36	165					0	0	0	0	T	55195921	C	T	55195921	3	4	364	1	0	0	0	0	1	0	0	0	7744	855	30	2	1060	2	IL31RA	5	55195921	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	139818	55195921	125719339	536	69465											
CRHBP	1393	broad.mit.edu	37	chr5	76264687	76264687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaatggaaacagtatcgggGaattctgtttgtctggtctt	10	14	11	6	1	3	0	0	0	3	0	4	2	3	2	0	4	1	2	0	4	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:76264687G>A	ENST00000274368.4	+	7	1368	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	316					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CAGTATCGGGGAATTCTGTTT	0.433													9	56					0	0	0	0	A	76264687	G	A	76264687	3	1	364	1	0	0	0	0	1	0	0	0	3900	1175	41	2	972	2	CRHBP	5	76264687	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	21068766	76264687	104650573	537	69466											
DMGDH	29958	broad.mit.edu	37	chr5	78325767	78325767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagagccagtaattaaaaGaaactccccaggagattggt	15	8	9	9	0	0	3	0	0	0	3	2	4	2	3	4	2	2	1	4	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78325767G>A	ENST00000255189.3	-	11	1802	c.1774C>T	c.(1774-1776)Ctt>Ttt	p.L592F	DMGDH_ENST00000380311.4_Missense_Mutation_p.L391F|DMGDH_ENST00000540686.1_Missense_Mutation_p.L212F	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	592					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GTAATTAAAAGAAACTCCCCA	0.368													11	29					0	0	0	0	A	78325767	G	A	78325767	3	1	364	1	0	0	0	0	1	0	0	0	4618	942	33	2	850	2	DMGDH	5	78325767	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2061080	78325767	102589493	538	69467											
DMGDH	29958	broad.mit.edu	37	chr5	78338147	78338147	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtttctgaccccctgatgGggccccaccataggcagaat	9	9	10	13	0	1	3	0	2	1	1	1	3	1	3	5	3	0	2	5	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78338147G>A	ENST00000255189.3	-	7	1180	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P	DMGDH_ENST00000380311.4_Silent_p.P183P|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	384					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCCCCTGATGGGGCCCCACCA	0.418													11	47					0	0	0	0	A	78338147	G	A	78338147	2	1	364	1	0	0	0	0	0	0	0	1	4618	1219	43	4		4	DMGDH	5	78338147	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	12380	78338147	102577113	539	69468											
JMY	133746	broad.mit.edu	37	chr5	78587049	78587049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaactccagtatgcagtttCtaaggaaactttgcagatga	15	11	8	7	0	1	2	0	1	1	1	2	3	2	3	1	1	4	4	1	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78587049C>T	ENST00000396137.4	+	4	1916	c.1454C>T	c.(1453-1455)tCt>tTt	p.S485F		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	485	Interaction with p300/EP300 (By similarity).				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TATGCAGTTTCTAAGGAAACT	0.403													24	36					0	0	0	0	T	78587049	C	T	78587049	3	4	364	1	0	0	0	0	1	0	0	0	8010	913	32	2	1468	2	JMY	5	78587049	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	248902	78587049	102328211	540	69469											
JMY	133746	broad.mit.edu	37	chr5	78610464	78610464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccaccacctcccccacctCctccccctcccccaccacca	7	4	0	30	0	0	0	0	0	0	0	4	0	4	0	13	0	0	0	13	0	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78610464C>T	ENST00000396137.4	+	9	2911	c.2449C>T	c.(2449-2451)Cct>Tct	p.P817S	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	817	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		tcccccacctcctccccctcc	0.527													11	27					0	0	0	0	T	78610464	C	T	78610464	3	4	364	1	0	0	0	0	1	0	0	0	8010	855	30	2	2483	2	JMY	5	78610464	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	23415	78610464	102304796	541	69470											
THBS4	7060	broad.mit.edu	37	chr5	79351645	79351645	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaacgatgggaaggtgcaTttggtggttttcaacaacct	12	11	12	6	1	1	1	1	0	0	1	1	3	1	2	1	4	4	2	1	4	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:79351645T>A	ENST00000350881.2	+	3	520	c.330T>A	c.(328-330)caT>caA	p.H110Q	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.H19Q	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	110	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGAAGGTGCATTTGGTGGTTT	0.567													44	193					0	0	0	0	A	79351645	T	A	79351645	3	1	364	1	0	0	0	0	1	0	0	0	15950	1490	52	5	340	5	THBS4	5	79351645	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	741181	79351645	101563615	542	69471											
VCAN	1462	broad.mit.edu	37	chr5	82837304	82837304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctcagacaccatcatctCccctcactatctactcaggc	9	11	3	18	0	6	1	4	0	3	1	8	1	6	1	3	1	1	0	3	1	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:82837304C>T	ENST00000265077.3	+	8	9047	c.8482C>T	c.(8482-8484)Ccc>Tcc	p.P2828S	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P1841S|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2828	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACCATCATCTCCCCTCACTAT	0.502													9	66					0	0	0	0	T	82837304	C	T	82837304	3	4	364	1	0	0	0	0	1	0	0	0	17234	855	30	2	8508	2	VCAN	5	82837304	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3485659	82837304	98077956	543	69472											
POLR3G	10622	broad.mit.edu	37	chr5	89802421	89802421	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaagcaaagagaaaagtaAagaaggtgatgatgacgatg	20	5	14	2	1	0	5	0	3	0	2	0	8	0	6	0	2	1	2	0	2	7	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:89802421A>C	ENST00000399107.1	+	7	715	c.515A>C	c.(514-516)aAa>aCa	p.K172T	POLR3G_ENST00000504930.1_Missense_Mutation_p.K172T	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	172	Glu-rich.				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		gagaaaagtaaagaaggtgat	0.383													10	42					0	0	0	0	C	89802421	A	C	89802421	3	2	364	1	0	0	0	0	1	0	0	0	12306	14	1	5	537	5	POLR3G	5	89802421	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	6965117	89802421	91112839	544	69473											
GPR98	84059	broad.mit.edu	37	chr5	90106814	90106814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgcagaagttcttatccGaagaactggtgggtttactg	10	12	11	8	1	1	2	0	0	1	2	2	3	2	2	1	2	3	3	1	2	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:90106814G>A	ENST00000405460.2	+	74	15833	c.15737G>A	c.(15736-15738)cGa>cAa	p.R5246Q	GPR98_ENST00000425867.2_Missense_Mutation_p.R907Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5246					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTCTTATCCGAAGAACTGGT	0.418													12	68					0	0	0	0	A	90106814	G	A	90106814	3	1	364	1	0	0	0	0	1	0	0	0	6771	1058	37	1	16031	1	GPR98	5	90106814	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	304393	90106814	90808446	545	69474											
GPR98	84059	broad.mit.edu	37	chr5	90107097	90107097	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccctcaagggggagcacaGattgtggaggagaaggatga	14	5	16	6	0	1	3	1	1	0	2	1	7	1	6	1	5	2	1	1	5	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:90107097G>A	ENST00000405460.2	+	74	16116	c.16020G>A	c.(16018-16020)caG>caA	p.Q5340Q	GPR98_ENST00000425867.2_Silent_p.Q1001Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5340					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGGGAGCACAGATTGTGGAGG	0.388													8	20					0	0	0	0	A	90107097	G	A	90107097	2	1	364	1	0	0	0	0	0	0	0	1	6771	933	33	2		2	GPR98	5	90107097	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	283	90107097	90808163	546	69475											
TTC37	9652	broad.mit.edu	37	chr5	94860296	94860296	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcaagagctctctgaaaaCtaagccaccaaagggtaata	16	8	7	10	0	2	2	1	1	2	1	4	2	2	2	2	1	3	2	2	1	7	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:94860296C>T	ENST00000358746.2	-	16	1624		c.e16-1			NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37								binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCTCTGAAAACTAAGCCACCA	0.368													8	38					0	0	0	0	T	94860296	C	T	94860296	5	4	364	1	0	0	0	0	0	0	1	0	16801	579	20	4	3481	4	TTC37	5	94860296	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4753199	94860296	86054964	547	69476											
EPB41L4A	64097	broad.mit.edu	37	chr5	111541182	111541182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggtatcagggctattttCattctttgctttcttaaagc	7	19	8	7	0	4	0	2	0	2	0	4	0	4	0	0	2	2	3	0	2	4	9			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:111541182C>T	ENST00000261486.5	-	14	1474	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	EPB41L4A_ENST00000507810.1_5'UTR|CTC-459M5.2_ENST00000506875.1_RNA|CTC-459M5.2_ENST00000505825.1_RNA	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	400						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GGGCTATTTTCATTCTTTGCT	0.308													98	346					0	0	0	0	T	111541182	C	T	111541182	3	4	364	1	0	0	0	0	1	0	0	0	5193	835	29	2	902	2	EPB41L4A	5	111541182	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	16680886	111541182	69374078	548	69477											
FTMT	94033	broad.mit.edu	37	chr5	121188057	121188057	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaagctgatgaggctgcaGaaccagcgaggaggccggat	12	4	17	8	2	0	4	0	2	0	2	0	8	0	6	2	4	4	3	2	4	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:121188057G>A	ENST00000321339.1	+	1	408	c.399G>A	c.(397-399)caG>caA	p.Q133Q		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	133	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGAGGCTGCAGAACCAGCGAG	0.597													14	57					0	0	0	0	A	121188057	G	A	121188057	2	1	364	1	0	0	0	0	0	0	0	1	6133	933	33	2		2	FTMT	5	121188057	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	9646875	121188057	59727203	549	69478											
ADAMTS19	171019	broad.mit.edu	37	chr5	128957966	128957966	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttccctccaagctgccAgggatgacatacactgctga	10	9	10	12	0	0	2	0	2	0	0	2	3	2	3	3	2	4	3	3	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:128957966A>C	ENST00000274487.4	+	10	1822	c.1677A>C	c.(1675-1677)ccA>ccC	p.P559P	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	559	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCAAGCTGCCAGGGATGACAT	0.468													7	51					0	0	0	0	C	128957966	A	C	128957966	2	2	364	1	0	0	0	0	0	0	0	1	264	175	7	5		5	ADAMTS19	5	128957966	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	7769909	128957966	51957294	550	69479											
FSTL4	23105	broad.mit.edu	37	chr5	132535173	132535173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcgccccgcactgtgatctCctgcacgtgcagccaggggc	5	7	12	17	3	1	1	0	1	1	0	3	1	1	1	4	2	3	3	4	2	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:132535173C>T	ENST00000265342.7	-	16	2392	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	715						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTGTGATCTCCTGCACGTGC	0.582													8	58					0	0	0	0	T	132535173	C	T	132535173	3	4	364	1	0	0	0	0	1	0	0	0	6127	864	30	2	389	2	FSTL4	5	132535173	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3577207	132535173	48380087	551	69480											
SEC24A	10802	broad.mit.edu	37	chr5	134002527	134002527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccataggtccttctgtacctCccttagtgaatccacctctg	7	13	6	15	0	2	1	0	1	2	0	5	1	5	1	6	1	1	1	6	1	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:134002527C>T	ENST00000398844.2	+	3	868	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	SEC24A_ENST00000322887.4_Missense_Mutation_p.P194S	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	194	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTGTACCTCCCTTAGTGAA	0.527													17	93					0	0	0	0	T	134002527	C	T	134002527	3	4	364	1	0	0	0	0	1	0	0	0	14081	855	30	2	590	2	SEC24A	5	134002527	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1467354	134002527	46912733	552	69481											
PITX1	5307	broad.mit.edu	37	chr5	134364547	134364547	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacgacgagtgctgtttGgacttgagccgcaggctggc	8	8	14	11	3	0	1	0	1	0	0	0	4	0	2	2	3	3	4	2	3	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:134364547G>A	ENST00000265340.7	-	3	1283	c.867C>T	c.(865-867)tcC>tcT	p.S289S	PITX1_ENST00000506438.1_Silent_p.S289S	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	289						nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		AGTGCTGTTTGGACTTGAGCC	0.701													7	24					0	0	0	0	A	134364547	G	A	134364547	2	1	364	1	0	0	0	0	0	0	0	1	12026	1335	47	4		4	PITX1	5	134364547	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	362020	134364547	46550713	553	69482											
KLHL3	26249	broad.mit.edu	37	chr5	137056259	137056259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagcctgtatcagagtctggGagctcagcttgacactgtga	9	10	12	10	0	3	3	2	2	1	1	3	4	3	4	1	1	3	3	1	1	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:137056259G>A	ENST00000309755.4	-	2	472	c.29C>T	c.(28-30)tCc>tTc	p.S10F	KLHL3_ENST00000394937.3_Missense_Mutation_p.S10F|KLHL3_ENST00000508657.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	10						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CAGAGTCTGGGAGCTCAGCTT	0.488													12	51					0	0	0	0	A	137056259	G	A	137056259	3	1	364	1	0	0	0	0	1	0	0	0	8435	1174	41	2	1790	2	KLHL3	5	137056259	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2691712	137056259	43859001	554	69483											
WNT8A	7478	broad.mit.edu	37	chr5	137426723	137426723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtattactgcgcacgctcCccaggcagtgcccagtccct	8	8	9	16	2	0	0	0	0	0	0	2	0	2	0	4	1	3	4	4	1	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:137426723C>T	ENST00000506684.1	+	5	1307	c.1071C>T	c.(1069-1071)tcC>tcT	p.S357S	WNT8A_ENST00000398754.1_Silent_p.S339S			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	339					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCGCACGCTCCCCAGGCAGTG	0.517													10	45					0	0	0	0	T	137426723	C	T	137426723	2	4	364	1	0	0	0	0	0	0	0	1	17492	610	22	4		4	WNT8A	5	137426723	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	370464	137426723	43488537	555	69484											
BRD8	10902	broad.mit.edu	37	chr5	137507796	137507796	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcggccaggttctgcaaaGggcttgattgctctgctaac	7	10	14	10	1	2	1	0	1	2	0	2	1	2	1	1	4	4	5	1	4	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:137507796G>A	ENST00000254900.5	-	3	515	c.144C>T	c.(142-144)ccC>ccT	p.P48P	BRD8_ENST00000230901.5_Silent_p.P48P|BRD8_ENST00000455658.2_Intron|BRD8_ENST00000411594.2_Silent_p.P48P|BRD8_ENST00000402931.1_Silent_p.P48P	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	48					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTTCTGCAAAGGGCTTGATTG	0.458													43	83					0	0	0	0	A	137507796	G	A	137507796	2	1	364	1	0	0	0	0	0	0	0	1	1514	987	35	4		4	BRD8	5	137507796	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	81073	137507796	43407464	556	69485											
TMEM173	340061	broad.mit.edu	37	chr5	138858007	138858007	+	Missense_Mutation	SNP	G	G	A																															aggcaccccacagtccaatgGgaggagaatatacagccgct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:138858007G>A	ENST00000330794.4	-	6	940	c.607C>T	c.(607-609)Cca>Tca	p.P203S		NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	203					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGTCCAATGGGAGGAGAATA	0.552													22	136					0	0	0	0	A	138858007	G	A	138858007	3	1	364	1	0	0	0	0	1	0	0	0	16183	1232	43	4	544	4	TMEM173	5	138858007	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1350211	138858007	42057253	557	69486	877	2									
TMEM173	340061	broad.mit.edu	37	chr5	138858008	138858008	+	Silent	SNP	G	G	A																															ggcaccccacagtccaatggGaggagaatatacagccgctg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:138858008G>A	ENST00000330794.4	-	6	939	c.606C>T	c.(604-606)ctC>ctT	p.L202L		NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	202					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGTCCAATGGGAGGAGAATAT	0.557													22	139					0	0	0	0	A	138858008	G	A	138858008	2	1	364	1	0	0	0	0	0	0	0	1	16183	1161	41	2		2	TMEM173	5	138858008	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	138858008	42057252	558	69487	877	2									
ANKHD1	54882	broad.mit.edu	37	chr5	139905595	139905595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttcagtggagcaagaagttCccatagaacctcctagtgca	12	10	9	10	0	1	2	1	0	0	2	3	3	3	3	3	1	3	3	3	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:139905595C>T	ENST00000297183.6	+	26	4631	c.4507C>T	c.(4507-4509)Ccc>Tcc	p.P1503S	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1503S|ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1503S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGAAGTTCCCATAGAACC	0.358													10	53					0	0	0	0	T	139905595	C	T	139905595	3	4	364	1	0	0	0	0	1	0	0	0	628	855	30	2	4715	2	ANKHD1	5	139905595	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1047587	139905595	41009665	559	69488											
PCDHA1	56147	broad.mit.edu	37	chr5	140167698	140167698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggctacaacgcgtggctgtCctatgaactgcagccggcag	8	7	14	12	3	0	1	0	1	0	0	1	1	1	1	2	3	5	4	2	3	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140167698C>T	ENST00000504120.2	+	1	1823	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S608F	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTGTCCTATGAACTG	0.677													35	46					0	0	0	0	T	140167698	C	T	140167698	3	4	364	1	0	0	0	0	1	0	0	0	11590	855	30	2	1825	2	PCDHA1	5	140167698	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	262103	140167698	40747562	560	69489											
PCDHA2	56146	broad.mit.edu	37	chr5	140176833	140176833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcagagggtgtgctctgggGaggacccccccaagacggac	8	4	17	12	1	1	2	0	0	1	2	1	5	1	5	3	6	1	2	3	6	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140176833G>A	ENST00000526136.1	+	1	2284	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E762K|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E762K	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTCTGGGGAGGACCCCCC	0.627													7	55					0	0	0	0	A	140176833	G	A	140176833	3	1	364	1	0	0	0	0	1	0	0	0	11595	1175	41	2	2286	2	PCDHA2	5	140176833	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	9135	140176833	40738427	561	69490											
PCDHA4	56144	broad.mit.edu	37	chr5	140186879	140186879	+	Missense_Mutation	SNP	C	C	T																															tcagctccactactcggtctCcgaggaggccaaacacggca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140186879C>T	ENST00000530339.1	+	1	107	c.107C>T	c.(106-108)tCc>tTc	p.S36F	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S36F|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S36F	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCGGTCTCCGAGGAGGCC	0.662													16	77					0	0	0	0	T	140186879	C	T	140186879	3	4	364	1	0	0	0	0	1	0	0	0	11597	855	30	2	109	2	PCDHA4	5	140186879	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	10046	140186879	40728381	562	69491	878	2									
PCDHA4	56144	broad.mit.edu	37	chr5	140186880	140186880	+	Silent	SNP	C	C	T																															cagctccactactcggtctcCgaggaggccaaacacggcac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140186880C>T	ENST00000530339.1	+	1	108	c.108C>T	c.(106-108)tcC>tcT	p.S36S	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.S36S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.S36S	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCGGTCTCCGAGGAGGCCA	0.667													17	79					0	0	0	0	T	140186880	C	T	140186880	2	4	364	1	0	0	0	0	0	0	0	1	11597	639	23	1		1	PCDHA4	5	140186880	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	140186880	40728380	563	69492	878	2									
PCDHA4	56144	broad.mit.edu	37	chr5	140187186	140187186	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgttcccagcaacacaaaaGaacctgtccatcgcggaatc	13	7	8	13	2	0	1	0	0	0	1	4	2	2	2	3	1	3	2	3	1	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140187186G>A	ENST00000530339.1	+	1	414	c.414G>A	c.(412-414)aaG>aaA	p.K138K	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.K138K|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.K138K	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACACAAAAGAACCTGTCCA	0.572													36	81					0	0	0	0	A	140187186	G	A	140187186	2	1	364	1	0	0	0	0	0	0	0	1	11597	933	33	2		2	PCDHA4	5	140187186	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	306	140187186	40728074	564	69493											
PCDHA6	56142	broad.mit.edu	37	chr5	140207705	140207705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taccccggaggatagattggGaaagcaatgtctgctcctcc	10	9	11	11	1	1	1	0	0	1	1	3	4	3	4	4	3	3	2	4	3	4	3	rs17844300		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140207705G>A	ENST00000529310.1	+	1	143	c.29G>A	c.(28-30)gGa>gAa	p.G10E	PCDHA6_ENST00000527624.1_Missense_Mutation_p.G10E|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGATTGGGAAAGCAATGT	0.512													34	146					0	0	0	0	A	140207705	G	A	140207705	3	1	364	1	0	0	0	0	1	0	0	0	11599	1174	41	2	31	2	PCDHA6	5	140207705	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	20519	140207705	40707555	565	69494											
PCDHA7	56141	broad.mit.edu	37	chr5	140215952	140215952	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagccctcgctgacagccAcagccaccgtgctggtgtcg	6	6	14	15	3	0	1	0	1	0	0	2	2	0	2	4	2	4	2	4	2	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140215952A>G	ENST00000525929.1	+	1	1984	c.1984A>G	c.(1984-1986)Aca>Gca	p.T662A	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T662A|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGACAGCCACAGCCACCGT	0.657													14	59					0	0	0	0	G	140215952	A	G	140215952	3	3	364	1	0	0	0	0	1	0	0	0	11600	159	6	5	1986	5	PCDHA7	5	140215952	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	8247	140215952	40699308	566	69495											
PCDHA10	56139	broad.mit.edu	37	chr5	140236455	140236455	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggatgaaggaataaacaaGgaaatgatgtattcatttag	17	11	10	3	1	1	2	1	2	0	0	2	5	1	5	0	3	1	1	0	3	8	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140236455G>A	ENST00000307360.5	+	1	822	c.822G>A	c.(820-822)aaG>aaA	p.K274K	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.K274K|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATAAACAAGGAAATGATGT	0.363													17	32					0	0	0	0	A	140236455	G	A	140236455	2	1	364	1	0	0	0	0	0	0	0	1	11591	991	35	4		4	PCDHA10	5	140236455	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	20503	140236455	40678805	567	69496											
PCDHA11	56138	broad.mit.edu	37	chr5	140249753	140249753	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgccgtgacttccttgtcCctcccagtacgagaggacgc	6	9	11	15	4	0	2	0	1	0	1	4	4	3	3	4	1	1	1	4	1	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140249753C>T	ENST00000398640.2	+	1	1065	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTTGTCCCTCCCAGTAC	0.572													23	38					0	0	0	0	T	140249753	C	T	140249753	2	4	364	1	0	0	0	0	0	0	0	1	11592	610	22	4		4	PCDHA11	5	140249753	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	13298	140249753	40665507	568	69497											
PCDHA12	56137	broad.mit.edu	37	chr5	140256918	140256918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcggtcggcgcgcacatcCcgttccacgtggggctgtac	4	7	15	15	7	0	0	0	0	0	0	3	0	2	0	2	5	1	4	2	5	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140256918C>T	ENST00000398631.2	+	1	1861	c.1861C>T	c.(1861-1863)Ccg>Tcg	p.P621S	PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCACATCCCGTTCCACGT	0.672													30	37					0	0	0	0	T	140256918	C	T	140256918	3	4	364	1	0	0	0	0	1	0	0	0	11593	623	22	4	1863	4	PCDHA12	5	140256918	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	7165	140256918	40658342	569	69498											
PCDHA13	56136	broad.mit.edu	37	chr5	140263335	140263335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctggtctcctactcgctGgtggagcggcgggtgggcga	3	8	19	11	5	1	0	0	0	1	0	3	2	1	1	1	6	2	2	1	6	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140263335G>A	ENST00000289272.2	+	1	1482	c.1482G>A	c.(1480-1482)ctG>ctA	p.L494L	PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Silent_p.L494L|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTACTCGCTGGTGGAGCGGC	0.662													20	41					0	0	0	0	A	140263335	G	A	140263335	2	1	364	1	0	0	0	0	0	0	0	1	11594	1335	47	4		4	PCDHA13	5	140263335	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6417	140263335	40651925	570	69499											
PCDHA13	56136	broad.mit.edu	37	chr5	140263918	140263918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtcggcaggcgctgtgggtCcagaagcggcgctggtggat	5	7	19	10	5	0	1	0	0	0	1	2	2	1	2	1	6	1	3	1	6	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140263918C>T	ENST00000289272.2	+	1	2065	c.2065C>T	c.(2065-2067)Cca>Tca	p.P689S	PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P689S|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGTGGGTCCAGAAGCGGC	0.637													19	60					0	0	0	0	T	140263918	C	T	140263918	3	4	364	1	0	0	0	0	1	0	0	0	11594	855	30	2	2067	2	PCDHA13	5	140263918	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	583	140263918	40651342	571	69500											
PCDHB2	56133	broad.mit.edu	37	chr5	140475886	140475886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcacctgcccctcgcctcCctggtctccatcaacgcgga	5	7	8	21	4	2	0	1	0	1	0	5	1	3	1	7	2	2	1	7	2	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140475886C>T	ENST00000194155.4	+	1	1660	c.1512C>T	c.(1510-1512)tcC>tcT	p.S504S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		504	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCGCCTCCCTGGTCTCCA	0.687													23	117					0	0	0	0	T	140475886	C	T	140475886	2	4	364	1	0	0	0	0	0	0	0	1	11613	610	22	4		4	PCDHB2	5	140475886	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	211968	140475886	40439374	572	69501											
PCDHB7	56129	broad.mit.edu	37	chr5	140554224	140554224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccagaacgcctggctgtCgtaccagctgctcaaggcca	8	6	13	14	2	1	1	1	0	0	1	2	1	1	1	4	3	4	4	4	3	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140554224C>T	ENST00000231137.3	+	1	1982	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		603	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTGGCTGTCGTACCAGCTG	0.726													4	175					0	0	0	0	T	140554224	C	T	140554224	3	4	364	1	0	0	0	0	1	0	0	0	11618	893	31	1	1810	1	PCDHB7	5	140554224	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	78338	140554224	40361036	573	69502											
PCDHB8	56128	broad.mit.edu	37	chr5	140558982	140558982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccgccttcacccaaacctCctacaccctgttcgtccgcg	6	8	5	22	4	1	0	1	0	0	0	4	0	3	0	8	0	2	1	8	0	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140558982C>T	ENST00000239444.2	+	1	1612	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		456					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S456F(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACCTCCTACACCCTG	0.607													53	434					0	0	0	0	T	140558982	C	T	140558982	3	4	364	1	0	0	0	0	1	0	0	0	11619	855	30	2	1369	2	PCDHB8	5	140558982	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4758	140558982	40356278	574	69503											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719238	140719238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcatctgcgtgaaggtcctgGatgcgaacgacaatgcgcct	9	8	13	11	4	1	1	0	1	1	0	2	4	2	2	2	2	4	1	2	2	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140719238G>A	ENST00000394576.2	+	1	700	c.700G>A	c.(700-702)Gat>Aat	p.D234N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGTCCTGGATGCGAACGA	0.597													13	61					0	0	0	0	A	140719238	G	A	140719238	3	1	364	1	0	0	0	0	1	0	0	0	11625	1174	41	2	702	2	PCDHGA2	5	140719238	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	160256	140719238	40196022	575	69504											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723787	140723787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgggagctggcggagcgcGgagtccgcatcgtctccaga	6	5	16	14	6	1	1	0	0	1	1	4	4	2	4	3	4	2	2	3	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140723787G>A	ENST00000253812.6	+	1	187	c.187G>A	c.(187-189)Gga>Aga	p.G63R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGAGCGCGGAGTCCGCAT	0.607											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	146					0	0	0	0	A	140723787	G	A	140723787	3	1	364	1	0	0	0	0	1	0	0	0	11626	1117	39	1	189	1	PCDHGA3	5	140723787	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4549	140723787	40191473	576	69505											
PCDHGB1	56104	broad.mit.edu	37	chr5	140729974	140729974	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgggtggggaaacttgcCaaggatctggggctcagtgt	8	9	16	8	1	3	0	2	0	1	0	3	2	3	2	1	6	2	1	1	6	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140729974C>A	ENST00000523390.1	+	1	147	c.147C>A	c.(145-147)gcC>gcA	p.A49A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAACTTGCCAAGGATCTGG	0.542											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	30					0.00909568	0.00916679	1	0	A	140729974	C	A	140729974	2	1	364	1	0	0	0	0	0	0	0	1	11633	581	21	4		4	PCDHGB1	5	140729974	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	6187	140729974	40185286	577	69506											
PCDHGB2	56103	broad.mit.edu	37	chr5	140740533	140740533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggcataaacgcagagatCacctactcctttcataatgt	14	10	7	10	1	2	1	2	0	0	1	3	3	3	1	2	1	2	2	2	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140740533C>T	ENST00000522605.1	+	1	831	c.831C>T	c.(829-831)atC>atT	p.I277I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAGAGATCACCTACTCCT	0.468													8	20					0	0	0	0	T	140740533	C	T	140740533	2	4	364	1	0	0	0	0	0	0	0	1	11634	816	29	2		2	PCDHGB2	5	140740533	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	10559	140740533	40174727	578	69507											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755911	140755911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggctttcctgcagacctattCccacgaggtctcactcactg	7	11	8	15	1	2	1	2	0	1	1	5	2	4	1	3	2	1	2	3	2	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140755911C>T	ENST00000517434.1	+	1	2261	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACCTATTCCCACGAGGTC	0.572													11	69					0	0	0	0	T	140755911	C	T	140755911	3	4	364	1	0	0	0	0	1	0	0	0	11629	855	30	2	2263	2	PCDHGA6	5	140755911	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	15378	140755911	40159349	579	69508											
PCDHGA8	9708	broad.mit.edu	37	chr5	140774687	140774687	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgcggaagagtcacctgatCtttccccagcccaactacgc	9	8	8	16	3	2	2	1	1	1	1	4	3	3	3	4	1	3	0	4	1	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140774687C>T	ENST00000398604.2	+	1	2307	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACCTGATCTTTCCCCAGC	0.488													15	74					0	0	0	0	T	140774687	C	T	140774687	2	4	364	1	0	0	0	0	0	0	0	1	11631	903	32	2		2	PCDHGA8	5	140774687	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	18776	140774687	40140573	580	69509											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783618	140783618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctcagggaacagtaattCttcttttcaatgctcatgac	11	13	6	11	0	5	1	3	1	2	0	5	2	5	2	1	1	2	2	1	1	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140783618C>T	ENST00000573521.1	+	1	1099	c.1099C>T	c.(1099-1101)Ctt>Ttt	p.L367F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGTAATTCTTCTTTTCAA	0.413													28	25					0	0	0	0	T	140783618	C	T	140783618	3	4	364	1	0	0	0	0	1	0	0	0	11632	913	32	2	1101	2	PCDHGA9	5	140783618	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	8931	140783618	40131642	581	69510											
PCDHGA10	56106	broad.mit.edu	37	chr5	140795153	140795153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagatgattcgaagtttcCtatagaggataccccattgg	11	13	10	7	1	0	3	0	1	0	2	2	5	1	4	3	2	1	2	3	2	5	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140795153C>T	ENST00000398610.2	+	1	2411	c.2411C>T	c.(2410-2412)cCt>cTt	p.P804L	PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAAGTTTCCTATAGAGGAT	0.393													9	52					0	0	0	0	T	140795153	C	T	140795153	3	4	364	1	0	0	0	0	1	0	0	0	11622	681	24	4	2413	4	PCDHGA10	5	140795153	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	11535	140795153	40120107	582	69511											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811010	140811010	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcacaggcaccgcgcgcatCcgcgtgatggttctggatgc	6	7	14	14	6	1	1	0	1	1	0	2	2	2	2	2	3	1	4	2	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140811010C>T	ENST00000252085.3	+	1	826	c.684C>T	c.(682-684)atC>atT	p.I228I	PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGCGCATCCGCGTGATGG	0.667													11	57					0	0	0	0	T	140811010	C	T	140811010	2	4	364	1	0	0	0	0	0	0	0	1	11624	845	30	2		2	PCDHGA12	5	140811010	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	15857	140811010	40104250	583	69512											
DIAPH1	1729	broad.mit.edu	37	chr5	140953082	140953082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaccagtttggcctccggaGctgcacctctggcttataaa	8	10	11	12	1	1	0	0	0	1	0	2	2	2	2	4	4	2	4	4	4	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140953082G>A	ENST00000253811.6	-	16	2475	c.2335C>T	c.(2335-2337)Ctc>Ttc	p.L779F	DIAPH1_ENST00000389054.3_Missense_Mutation_p.L779F|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L770F|DIAPH1_ENST00000389057.5_Missense_Mutation_p.L770F|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L758F|DIAPH1_ENST00000398557.4_Missense_Mutation_p.L779F|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L770F|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L725F			O60610	DIAP1_HUMAN	diaphanous-related formin 1	779	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTCCGGAGCTGCACCTCT	0.453													75	114					0	0	0	0	A	140953082	G	A	140953082	3	1	364	1	0	0	0	0	1	0	0	0	4555	971	34	4	1535	4	DIAPH1	5	140953082	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	142072	140953082	39962178	584	69513											
ARAP3	64411	broad.mit.edu	37	chr5	141051154	141051154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctggagaagctggctatGatctgggtactgagggtggg	8	10	17	6	0	1	3	0	2	1	1	1	4	1	3	1	5	3	3	1	5	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:141051154G>A	ENST00000239440.4	-	12	1902	c.1837C>T	c.(1837-1839)Cat>Tat	p.H613Y	ARAP3_ENST00000508305.1_Missense_Mutation_p.H535Y|ARAP3_ENST00000513878.1_Missense_Mutation_p.H275Y	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	613					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGCTGGCTATGATCTGGGTAC	0.602													9	37					0	0	0	0	A	141051154	G	A	141051154	3	1	364	1	0	0	0	0	1	0	0	0	842	1290	45	2	2885	2	ARAP3	5	141051154	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	98072	141051154	39864106	585	69514											
RBM27	54439	broad.mit.edu	37	chr5	145665539	145665539	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagatttgtttttgccTgatgatgacgatgaagatga	11	14	10	6	1	1	7	1	5	0	2	1	8	1	7	2	0	1	1	2	0	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:145665539T>C	ENST00000265271.5	+	21	3295	c.3129T>C	c.(3127-3129)ccT>ccC	p.P1043P	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1043					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTTTTGCCTGATGATGACG	0.358													3	74					0	0	0	0	C	145665539	T	C	145665539	2	2	364	1	0	0	0	0	0	0	0	1	13209	1567	55	5		5	RBM27	5	145665539	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	4614385	145665539	35249721	586	69515											
FBXO38	81545	broad.mit.edu	37	chr5	147781995	147781995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttggggaaatttcgtaatCgtaatggagcttttccaatt	10	17	9	5	2	0	0	0	0	0	0	3	2	1	2	1	3	1	3	1	3	4	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:147781995C>T	ENST00000340253.5	+	5	679	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	FBXO38_ENST00000394370.3_Missense_Mutation_p.R171C|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Missense_Mutation_p.R171C|FBXO38_ENST00000513826.1_Missense_Mutation_p.R171C			Q6PIJ6	FBX38_HUMAN	F-box protein 38	171						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCGTAATCGTAATGGAGC	0.358													41	57					0	0	0	0	T	147781995	C	T	147781995	3	4	364	1	0	0	0	0	1	0	0	0	5791	884	31	1	525	1	FBXO38	5	147781995	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2116456	147781995	33133265	587	69516											
AFAP1L1	134265	broad.mit.edu	37	chr5	148712312	148712312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccctggaagctcagtgtcGggcaaaggaggagcgccgga	10	4	16	11	3	1	0	1	0	0	0	2	4	1	4	2	5	2	2	2	5	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:148712312G>A	ENST00000296721.4	+	17	2128	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R677Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	677							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGTGTCGGGCAAAGGAG	0.567													32	47					0	0	0	0	A	148712312	G	A	148712312	3	1	364	1	0	0	0	0	1	0	0	0	354	1116	39	1	2096	1	AFAP1L1	5	148712312	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	930317	148712312	32202948	588	69517											
PDGFRB	5159	broad.mit.edu	37	chr5	149500535	149500535	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaccagcttgccttcacaGatgagcacgttcctagccgc	8	10	9	14	2	1	3	1	2	0	1	2	3	2	3	4	0	4	3	4	0	1	5	rs143375423	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149500535G>A	ENST00000261799.4	-	18	2971	c.2502C>T	c.(2500-2502)atC>atT	p.I834I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	834	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCTTCACAGATGAGCACGT	0.562			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								18	63					0	0	0	0	A	149500535	G	A	149500535	2	1	364	1	0	0	0	0	0	0	0	1	11733	932	33	2		2	PDGFRB	5	149500535	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	788223	149500535	31414725	589	69518											
PDGFRB	5159	broad.mit.edu	37	chr5	149514449	149514449	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacaggcagtgcaacgtcCcctttcttctcgtgcagtgt	6	11	12	12	2	2	0	0	0	2	0	4	1	3	1	2	2	3	3	2	2	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149514449C>T	ENST00000261799.4	-	4	964	c.495G>A	c.(493-495)ggG>ggA	p.G165G		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	165	Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCAACGTCCCCTTTCTTCT	0.507			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								44	98					0	0	0	0	T	149514449	C	T	149514449	2	4	364	1	0	0	0	0	0	0	0	1	11733	610	22	4		4	PDGFRB	5	149514449	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	13914	149514449	31400811	590	69519											
TCOF1	6949	broad.mit.edu	37	chr5	149755775	149755775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaactgcgacttctcCagcaggctcatccccagctg	9	7	10	15	1	2	0	1	0	1	0	4	2	3	1	3	2	5	4	3	2	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149755775C>T	ENST00000451292.1	+	13	2132	c.2024C>T	c.(2023-2025)cCa>cTa	p.P675L	TCOF1_ENST00000323668.7_Missense_Mutation_p.P598L|TCOF1_ENST00000445265.2_Missense_Mutation_p.P598L|TCOF1_ENST00000439160.2_Missense_Mutation_p.P675L|TCOF1_ENST00000394269.3_Missense_Mutation_p.P675L|TCOF1_ENST00000504761.2_Missense_Mutation_p.P675L|TCOF1_ENST00000513346.1_Missense_Mutation_p.P675L|TCOF1_ENST00000377797.3_Missense_Mutation_p.P675L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	675					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGACTTCTCCAGCAGGCTCA	0.577													43	173					0	0	0	0	T	149755775	C	T	149755775	3	4	364	1	0	0	0	0	1	0	0	0	15802	594	21	4	2074	4	TCOF1	5	149755775	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	241326	149755775	31159485	591	69520											
TCOF1	6949	broad.mit.edu	37	chr5	149772279	149772279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctccagtaggtcccaccCcctccaggacagagaccctg	8	7	8	18	0	1	1	0	0	1	1	4	3	3	2	6	2	0	1	6	2	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149772279C>T	ENST00000451292.1	+	23	3745	c.3637C>T	c.(3637-3639)Ccc>Tcc	p.P1213S	TCOF1_ENST00000323668.7_Missense_Mutation_p.P1099S|TCOF1_ENST00000445265.2_Missense_Mutation_p.P1100S|TCOF1_ENST00000439160.2_Missense_Mutation_p.P1139S|TCOF1_ENST00000504761.2_Missense_Mutation_p.P1176S|TCOF1_ENST00000513346.1_Missense_Mutation_p.P1176S|TCOF1_ENST00000377797.3_Missense_Mutation_p.P1177S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1176					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTCCCACCCCCTCCAGGAC	0.637													4	25					0	0	0	0	T	149772279	C	T	149772279	3	4	364	1	0	0	0	0	1	0	0	0	15802	623	22	4	3637	4	TCOF1	5	149772279	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	16504	149772279	31142981	592	69521											
CD74	972	broad.mit.edu	37	chr5	149786873	149786873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaagcctgtgtacagggctCcgcggctgcacttgctgtgg	7	9	14	11	2	0	0	0	0	0	0	1	0	1	0	2	3	4	5	2	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149786873C>T	ENST00000353334.6	-	2	319	c.140G>A	c.(139-141)gGa>gAa	p.G47E	CD74_ENST00000377795.3_Missense_Mutation_p.G47E|CD74_ENST00000524315.1_Missense_Mutation_p.G47E|CD74_ENST00000009530.7_Missense_Mutation_p.G47E	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	47					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACAGGGCTCCGCGGCTGCA	0.617			T	ROS1	NSCLC								10	12					0	0	0	0	T	149786873	C	T	149786873	3	4	364	1	0	0	0	0	1	0	0	0	3064	855	30	2	782	2	CD74	5	149786873	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	14594	149786873	31128387	593	69522											
FAT2	2196	broad.mit.edu	37	chr5	150892006	150892006	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagttctctgggaccacaagGgaggtgttgcccatgctgtc	7	10	13	11	0	1	0	0	0	1	0	3	2	1	2	2	3	2	3	2	3	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:150892006G>A	ENST00000261800.5	-	20	11637	c.11625C>T	c.(11623-11625)tcC>tcT	p.S3875S	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3875	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACCACAAGGGAGGTGTTGC	0.592													40	66					0	0	0	0	A	150892006	G	A	150892006	2	1	364	1	0	0	0	0	0	0	0	1	5735	1219	43	4		4	FAT2	5	150892006	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1105133	150892006	30023254	594	69523											
GLRA1	2741	broad.mit.edu	37	chr5	151235901	151235901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acatgtctggacatccatggGgaaattcttcaagtccatgg	11	11	10	9	0	3	0	1	0	2	0	5	2	5	2	2	4	0	0	2	4	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:151235901G>A	ENST00000274576.4	-	5	812	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S	GLRA1_ENST00000545569.1_Missense_Mutation_p.P91S|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.P174S	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	174					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACATCCATGGGGAAATTCTTC	0.502													8	48					0	0	0	0	A	151235901	G	A	151235901	3	1	364	1	0	0	0	0	1	0	0	0	6505	1232	43	4	873	4	GLRA1	5	151235901	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	343895	151235901	29679359	595	69524											
GRIA1	2890	broad.mit.edu	37	chr5	153190723	153190723	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgacttccccaagtccAtgcaatcgattccttgcatg	9	11	7	14	1	0	1	0	1	0	0	4	2	3	1	5	0	2	2	5	0	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:153190723A>G	ENST00000285900.5	+	16	3002	c.2659A>G	c.(2659-2661)Atg>Gtg	p.M887V	GRIA1_ENST00000518142.1_Missense_Mutation_p.M807V|GRIA1_ENST00000448073.4_Missense_Mutation_p.M897V|GRIA1_ENST00000521843.2_Missense_Mutation_p.M818V|GRIA1_ENST00000518783.1_Missense_Mutation_p.M897V|GRIA1_ENST00000340592.5_Missense_Mutation_p.M887V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	887					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCCCAAGTCCATGCAATCGAT	0.622													24	20					0	0	0	0	G	153190723	A	G	153190723	3	3	364	1	0	0	0	0	1	0	0	0	6817	217	8	5	2840	5	GRIA1	5	153190723	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	1954822	153190723	27724537	596	69525											
KIF4B	285643	broad.mit.edu	37	chr5	154396760	154396760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtgtggactgtagctGtgaccccacaaagtgtcgga	8	10	14	9	1	0	1	0	1	0	0	1	3	0	3	2	3	1	2	2	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:154396760G>T	ENST00000435029.4	+	1	3501	c.3341G>T	c.(3340-3342)tGt>tTt	p.C1114F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1114	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GACTGTAGCTGTGACCCCACA	0.547													9	57					0.0477658	0.0480141	1	0	T	154396760	G	T	154396760	3	4	364	1	0	0	0	0	1	0	0	0	8355	1377	48	4	3343	4	KIF4B	5	154396760	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1206037	154396760	26518500	597	69526											
HAVCR2	84868	broad.mit.edu	37	chr5	156533648	156533648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccactcacctggtttgatGaccaacttcaggttaaattt	10	14	7	10	0	2	2	2	2	0	0	3	2	3	2	3	2	1	2	3	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:156533648G>A	ENST00000307851.4	-	2	1114	c.384C>T	c.(382-384)gtC>gtT	p.V128V	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.V128V	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	128						integral to membrane		p.V128V(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGTTTGATGACCAACTTCA	0.403													17	47					0	0	0	0	A	156533648	G	A	156533648	2	1	364	1	0	0	0	0	0	0	0	1	7024	1277	45	2		2	HAVCR2	5	156533648	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2136888	156533648	24381612	598	69527											
SOX30	11063	broad.mit.edu	37	chr5	157065262	157065262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgggaagtagtgaggtccgGgtaggaagtaagggtgatga	12	8	19	2	1	0	3	0	3	0	0	1	5	1	5	1	5	0	3	1	5	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:157065262G>A	ENST00000265007.6	-	4	2197	c.1856C>T	c.(1855-1857)cCc>cTc	p.P619L	SOX30_ENST00000519442.1_Missense_Mutation_p.P314L|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	619	Pro-rich.				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGAGGTCCGGGTAGGAAGTA	0.433													15	30					0	0	0	0	A	157065262	G	A	157065262	3	1	364	1	0	0	0	0	1	0	0	0	15040	1232	43	4	413	4	SOX30	5	157065262	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	531614	157065262	23849998	599	69528											
EBF1	1879	broad.mit.edu	37	chr5	158223460	158223460	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccatccttcactcgggcTgatggctttgatacagggag	7	11	12	11	2	1	2	1	2	0	0	4	3	3	3	2	3	1	2	2	3	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:158223460T>C	ENST00000313708.6	-	9	1084	c.802A>G	c.(802-804)Agc>Ggc	p.S268G	EBF1_ENST00000517373.1_Missense_Mutation_p.S260G|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.S237G	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	268	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACTCGGGCTGATGGCTTTG	0.448			T	HMGA2	lipoma								8	33					0	0	0	0	C	158223460	T	C	158223460	3	2	364	1	0	0	0	0	1	0	0	0	4916	1580	55	5	1005	5	EBF1	5	158223460	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1158198	158223460	22691800	600	69529											
ATP10B	23120	broad.mit.edu	37	chr5	160033861	160033861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggagcggcagcacaggacgGaccgacaatactgggtcaat	12	5	14	10	3	1	0	1	0	0	0	1	4	1	3	1	5	3	2	1	5	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:160033861G>A	ENST00000327245.5	-	19	3917	c.3071C>T	c.(3070-3072)tCc>tTc	p.S1024F		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1024					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACAGGACGGACCGACAATA	0.507													11	86					0	0	0	0	A	160033861	G	A	160033861	3	1	364	1	0	0	0	0	1	0	0	0	1121	1174	41	2	1346	2	ATP10B	5	160033861	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1810401	160033861	20881399	601	69530											
GABRA6	2559	broad.mit.edu	37	chr5	161113294	161113294	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctactcagaaaacgtcAgtcggatcctggacaacttg	12	10	8	11	2	3	1	2	0	1	1	5	3	4	3	1	2	3	0	1	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:161113294A>C	ENST00000523217.1	+	2	339	c.97A>C	c.(97-99)Agt>Cgt	p.S33R	GABRA6_ENST00000274545.5_Missense_Mutation_p.S33R|GABRA6_ENST00000522269.1_3'UTR	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	33					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGAAAACGTCAGTCGGATCCT	0.483										TCGA Ovarian(5;0.080)			19	64					0	0	0	0	C	161113294	A	C	161113294	3	2	364	1	0	0	0	0	1	0	0	0	6213	188	7	5	103	5	GABRA6	5	161113294	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	1079433	161113294	19801966	602	69531											
WWC1	23286	broad.mit.edu	37	chr5	167812284	167812284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatatgctgaaggattacCtggtggtggcccaggaggct	10	9	14	8	0	0	1	0	1	0	0	0	3	0	3	2	6	3	2	2	6	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:167812284C>T	ENST00000265293.4	+	3	800	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	WWC1_ENST00000521089.1_Silent_p.L100L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	100					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAAGGATTACCTGGTGGTGGC	0.552													10	55					0	0	0	0	T	167812284	C	T	167812284	2	4	364	1	0	0	0	0	0	0	0	1	17507	680	24	4		4	WWC1	5	167812284	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	6698990	167812284	13102976	603	69532											
FAF2	23197	broad.mit.edu	37	chr5	175933836	175933836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagattgaagccaattttcCcaggcgagtgctgccctgca	9	10	10	12	1	1	2	1	1	0	1	2	3	2	2	3	1	4	2	3	1	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:175933836C>T	ENST00000261942.6	+	11	1276	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	408	UBX.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GCCAATTTTCCCAGGCGAGTG	0.502													86	132					0	0	0	0	T	175933836	C	T	175933836	3	4	364	1	0	0	0	0	1	0	0	0	5411	623	22	4	1265	4	FAF2	5	175933836	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	8121552	175933836	4981424	604	69533											
RGS14	10636	broad.mit.edu	37	chr5	176797953	176797953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtacgaatctcagccaagcCcaccaagcggctgcaggagg	11	4	13	13	2	1	0	1	0	1	0	2	2	1	1	3	4	5	3	3	4	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:176797953C>A	ENST00000408923.3	+	11	1363	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	392	Necessary for interaction with RABGEF1 (By similarity).|RBD 2.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGCCAAGCCCACCAAGCGG	0.711													3	31					1	1	1	0	A	176797953	C	A	176797953	3	1	364	1	0	0	0	0	1	0	0	0	13380	623	22	4	1217	4	RGS14	5	176797953	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	864117	176797953	4117307	605	69534											
ZFP2	80108	broad.mit.edu	37	chr5	178359013	178359013	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaatttgacagttcatcaGagaactcatacaggagaaaa	18	9	8	6	0	3	4	3	2	0	2	3	6	3	4	0	1	2	1	0	1	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:178359013G>A	ENST00000361362.2	+	5	1229	c.699G>A	c.(697-699)caG>caA	p.Q233Q	ZFP2_ENST00000523286.1_Silent_p.Q233Q|ZFP2_ENST00000520301.1_Silent_p.Q233Q|ZFP2_ENST00000503510.2_Silent_p.Q233Q	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CAGTTCATCAGAGAACTCATA	0.378													14	60					0	0	0	0	A	178359013	G	A	178359013	2	1	364	1	0	0	0	0	0	0	0	1	17736	933	33	2		2	ZFP2	5	178359013	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1561060	178359013	2556247	606	69535											
GRM6	2916	broad.mit.edu	37	chr5	178413884	178413884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccactgcctggtacccGccactgctggcactgccatt	5	9	10	17	1	0	0	0	0	0	0	0	0	0	0	5	3	4	3	5	3	1	2	rs149519053	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:178413884G>A	ENST00000231188.5	-	7	1633	c.1455C>T	c.(1453-1455)ggC>ggT	p.G485G	GRM6_ENST00000517717.1_Silent_p.G485G|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	485					detection of visible light|visual perception	integral to plasma membrane		p.G485G(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCTGGTACCCGCCACTGCTGG	0.647													3	28					0	0	0	0	A	178413884	G	A	178413884	2	1	364	1	0	0	0	0	0	0	0	1	6851	1074	38	1		1	GRM6	5	178413884	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	54871	178413884	2501376	607	69536											
OR2V2	285659	broad.mit.edu	37	chr5	180582348	180582348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacttcactatcccatcCtcatgaatcagagggtctgt	10	11	6	14	0	4	2	3	1	1	1	6	2	6	2	3	1	0	0	3	1	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:180582348C>T	ENST00000328275.1	+	1	406	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATCCCATCCTCATGAATCA	0.512													41	64					0	0	0	0	T	180582348	C	T	180582348	3	4	364	1	0	0	0	0	1	0	0	0	11102	681	24	4	408	4	OR2V2	5	180582348	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2168464	180582348	332912	608	69537											
LY86	9450	broad.mit.edu	37	chr6	6589096	6589096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttggaagtgctctaccaGagttgcggtaagcccttgca	8	10	13	10	1	1	1	0	0	1	1	1	2	1	2	2	3	5	5	2	3	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:6589096G>A	ENST00000379953.2	+	2	481	c.129G>A	c.(127-129)caG>caA	p.Q43Q	LY86_ENST00000230568.4_Silent_p.Q43Q|LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000435641.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	43					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TGCTCTACCAGAGTTGCGGTA	0.582													15	50					0	0	0	0	A	6589096	G	A	6589096	2	1	364	1	0	0	0	0	0	0	0	1	9165	933	33	2		2	LY86	6	6589096	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08		6589096	164525971	609	69538											
PHACTR1	221692	broad.mit.edu	37	chr6	12719057	12719057	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgagtcagctcaaagattCttctacagtcaaggagctca	12	11	9	9	0	6	2	4	1	2	1	6	3	6	3	0	1	3	3	0	1	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:12719057C>T	ENST00000379350.1	+	2	210	c.81C>T	c.(79-81)ttC>ttT	p.F27F	PHACTR1_ENST00000379348.2_Silent_p.F27F|PHACTR1_ENST00000332995.7_Silent_p.F27F			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	27						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTCAAAGATTCTTCTACAGTC	0.383													4	5					0	0	0	0	T	12719057	C	T	12719057	2	4	364	1	0	0	0	0	0	0	0	1	11881	912	32	2		2	PHACTR1	6	12719057	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	6129961	12719057	158396010	610	69539											
NUP153	9972	broad.mit.edu	37	chr6	17675207	17675207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accgtatgttgtttttccagGataaaaaggagaatctccaa	14	12	8	7	1	1	1	0	0	1	1	3	3	2	2	3	2	0	3	3	2	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:17675207G>A	ENST00000262077.2	-	5	780	c.781C>T	c.(781-783)Cct>Tct	p.P261S	NUP153_ENST00000537253.1_Missense_Mutation_p.P261S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	261					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTTTTTCCAGGATAAAAAGGA	0.403													35	50					0	0	0	0	A	17675207	G	A	17675207	3	1	364	1	0	0	0	0	1	0	0	0	10826	1174	41	2	3718	2	NUP153	6	17675207	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4956150	17675207	153439860	611	69540											
MBOAT1	154141	broad.mit.edu	37	chr6	20109910	20109910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagctgagtgacggccCaggtgcctgcatcatacaca	10	6	11	14	1	1	2	1	2	0	0	1	2	1	2	3	2	5	2	3	2	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:20109910C>A	ENST00000541730.1	-	11	1428	c.833G>T	c.(832-834)tGg>tTg	p.W278L	MBOAT1_ENST00000324607.7_Missense_Mutation_p.W427L			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	427					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AGTGACGGCCCAGGTGCCTGC	0.498													26	98					1.64293e-13	1.69039e-13	1	0	A	20109910	C	A	20109910	3	1	364	1	0	0	0	0	1	0	0	0	9425	595	21	4	215	4	MBOAT1	6	20109910	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2434703	20109910	151005157	612	69541											
KIAA0319	9856	broad.mit.edu	37	chr6	24596343	24596343	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctcgctgcccggcagtaGgccccagtccgtgtactcgg	4	7	12	18	4	0	0	0	0	0	0	3	0	1	0	6	3	2	4	6	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:24596343G>A	ENST00000535378.1	-	4	1174	c.532C>T	c.(532-534)Cta>Tta	p.L178L	KIAA0319_ENST00000430948.2_Silent_p.L142L|KIAA0319_ENST00000543707.1_Silent_p.L187L|KIAA0319_ENST00000378214.3_Silent_p.L187L|KIAA0319_ENST00000537886.1_Silent_p.L187L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	187					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCCGGCAGTAGGCCCCAGTCC	0.617													7	28					0	0	0	0	A	24596343	G	A	24596343	2	1	364	1	0	0	0	0	0	0	0	1	8219	991	35	4		4	KIAA0319	6	24596343	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4486433	24596343	146518724	613	69542											
GMNN	51053	broad.mit.edu	37	chr6	24781768	24781768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taacatctacaacttccagcCctggggttattgtcccagaa	11	11	7	12	0	1	1	0	0	1	1	3	1	3	1	3	2	4	1	3	2	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:24781768C>T	ENST00000230056.3	+	4	525	c.193C>T	c.(193-195)Cct>Tct	p.P65S	GMNN_ENST00000356509.3_Missense_Mutation_p.P65S	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	65					M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						AACTTCCAGCCCTGGGGTTAT	0.373													10	42					0	0	0	0	T	24781768	C	T	24781768	3	4	364	1	0	0	0	0	1	0	0	0	6544	623	22	4	203	4	GMNN	6	24781768	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	185425	24781768	146333299	614	69543											
FAM65B	9750	broad.mit.edu	37	chr6	24843658	24843658	+	Missense_Mutation	SNP	G	G	A																															ctggatttgttgagttggaaGgggagcctgttgagtgggag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:24843658G>A	ENST00000259698.4	-	14	1527	c.1352C>T	c.(1351-1353)cCt>cTt	p.P451L	FAM65B_ENST00000378023.4_Missense_Mutation_p.P401L|FAM65B_ENST00000538035.1_Missense_Mutation_p.P430L|FAM65B_ENST00000510784.2_Missense_Mutation_p.P435L|FAM65B_ENST00000540914.1_Missense_Mutation_p.P401L	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	451					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGAGTTGGAAGGGGAGCCTGT	0.552													10	53					0	0	0	0	A	24843658	G	A	24843658	3	1	364	1	0	0	0	0	1	0	0	0	5646	1000	35	4	1904	4	FAM65B	6	24843658	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	61890	24843658	146271409	615	69544	879	2									
FAM65B	9750	broad.mit.edu	37	chr6	24843659	24843659	+	Missense_Mutation	SNP	G	G	A																															tggatttgttgagttggaagGggagcctgttgagtgggagg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:24843659G>A	ENST00000259698.4	-	14	1526	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	FAM65B_ENST00000378023.4_Missense_Mutation_p.P401S|FAM65B_ENST00000538035.1_Missense_Mutation_p.P430S|FAM65B_ENST00000510784.2_Missense_Mutation_p.P435S|FAM65B_ENST00000540914.1_Missense_Mutation_p.P401S	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	451					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GAGTTGGAAGGGGAGCCTGTT	0.552													10	53					0	0	0	0	A	24843659	G	A	24843659	3	1	364	1	0	0	0	0	1	0	0	0	5646	1232	43	4	1905	4	FAM65B	6	24843659	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	24843659	146271408	616	69545	879	2									
LRRC16A	55604	broad.mit.edu	37	chr6	25551232	25551232	+	Missense_Mutation	SNP	C	C	T																															agacttgattcatgccagcaCcgaaaagatttctattccac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:25551232C>T	ENST00000329474.6	+	27	2791	c.2423C>T	c.(2422-2424)aCc>aTc	p.T808I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	808					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CATGCCAGCACCGAAAAGATT	0.393													55	89					0	0	0	0	T	25551232	C	T	25551232	3	4	364	1	0	0	0	0	1	0	0	0	9035	507	18	4	2529	4	LRRC16A	6	25551232	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	707573	25551232	145563835	617	69546	880	2									
LRRC16A	55604	broad.mit.edu	37	chr6	25551233	25551233	+	Silent	SNP	C	C	T																															gacttgattcatgccagcacCgaaaagatttctattccacg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:25551233C>T	ENST00000329474.6	+	27	2792	c.2424C>T	c.(2422-2424)acC>acT	p.T808T		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	808					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATGCCAGCACCGAAAAGATTT	0.393													56	87					0	0	0	0	T	25551233	C	T	25551233	2	4	364	1	0	0	0	0	0	0	0	1	9035	639	23	1		1	LRRC16A	6	25551233	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	25551233	145563834	618	69547	880	2									
SLC17A3	10786	broad.mit.edu	37	chr6	25850331	25850331	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctaaactttttggttagaagGaaatctgccagatagcctcc	12	12	8	9	0	1	2	0	0	1	2	2	3	2	3	3	2	3	1	3	2	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:25850331G>A	ENST00000397060.4	-	9	1177	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	SLC17A3_ENST00000361703.6_Silent_p.F278F|SLC17A3_ENST00000360657.3_Silent_p.F278F	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	278					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TGGTTAGAAGGAAATCTGCCA	0.398													11	53					0	0	0	0	A	25850331	G	A	25850331	2	1	364	1	0	0	0	0	0	0	0	1	14506	1165	41	2		2	SLC17A3	6	25850331	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	299098	25850331	145264736	619	69548											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017611	26017611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgccgggcttggtttccAcggaggacgccttcttgttg	4	11	15	11	4	1	0	0	0	1	0	2	2	2	2	3	5	0	3	3	5	0	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:26017611A>G	ENST00000244573.3	-	1	429	c.350T>C	c.(349-351)gTg>gCg	p.V117A		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	117					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CTTGGTTTCCACGGAGGACGC	0.542													16	90					0	0	0	0	G	26017611	A	G	26017611	3	3	364	1	0	0	0	0	1	0	0	0	7172	159	6	5	301	5	HIST1H1A	6	26017611	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	167280	26017611	145097456	620	69549											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045858	26045858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgttccagcgcctggtgcgaGaaatcgcccaggacttcaaa	10	7	11	13	4	1	1	1	0	0	1	3	3	2	2	3	2	2	1	3	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:26045858G>A	ENST00000540144.1	+	1	220	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	74					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CCTGGTGCGAGAAATCGCCCA	0.627													23	30					0	0	0	0	A	26045858	G	A	26045858	3	1	364	1	0	0	0	0	1	0	0	0	7207	943	33	2	222	2	HIST1H3C	6	26045858	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	28247	26045858	145069209	621	69550											
HIST1H3D	8351	broad.mit.edu	37	chr6	26197348	26197348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcgcagagccaccgtgccgGgccggtaacggtggggcttc	5	5	17	14	6	0	1	0	0	0	1	1	1	0	1	4	5	3	3	4	5	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:26197348G>A	ENST00000377831.5	-	2	584	c.131C>T	c.(130-132)cCc>cTc	p.P44L	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.P44L	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	44					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CACCGTGCCGGGCCGGTAACG	0.657													5	59					0	0	0	0	A	26197348	G	A	26197348	3	1	364	1	0	0	0	0	1	0	0	0	7208	1232	43	4	283	4	HIST1H3D	6	26197348	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	151490	26197348	144917719	622	69551											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860564	27860564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttagctttgtggtggctctCagtcttcttggggagcagta	5	15	13	8	0	3	0	1	0	3	0	4	1	3	1	0	4	2	4	0	4	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:27860564C>T	ENST00000359611.2	-	1	399	c.364G>A	c.(364-366)Gag>Aag	p.E122K	HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	122					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						TGGTGGCTCTCAGTCTTCTTG	0.498													23	90					0	0	0	0	T	27860564	C	T	27860564	3	4	364	1	0	0	0	0	1	0	0	0	7189	835	29	2	32	2	HIST1H2AM	6	27860564	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1663216	27860564	143254503	623	69552											
SCAND3	114821	broad.mit.edu	37	chr6	28543596	28543596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagtaataccgtattttatCtgtttccccatttacagcct	10	17	4	10	1	1	0	0	0	1	0	2	0	2	0	4	0	3	3	4	0	6	9			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:28543596C>T	ENST00000452236.2	-	3	1503	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	296					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CGTATTTTATCTGTTTCCCCA	0.408													27	150					0	0	0	0	T	28543596	C	T	28543596	3	4	364	1	0	0	0	0	1	0	0	0	13962	913	32	2	3099	2	SCAND3	6	28543596	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	683032	28543596	142571471	624	69553											
MAS1L	116511	broad.mit.edu	37	chr6	29454573	29454573	+	Silent	SNP	G	G	A																															acatcgaccctgtgctccctGggaagaaggttctccacatg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:29454573G>A	ENST00000377127.3	-	1	1165	c.1107C>T	c.(1105-1107)ccC>ccT	p.P369P		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	369						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	p.P369P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TGTGCTCCCTGGGAAGAAGGT	0.512													20	81					0	0	0	0	A	29454573	G	A	29454573	2	1	364	1	0	0	0	0	0	0	0	1	9390	1335	47	4		4	MAS1L	6	29454573	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	910977	29454573	141660494	625	69554	881	2									
MAS1L	116511	broad.mit.edu	37	chr6	29454574	29454574	+	Missense_Mutation	SNP	G	G	A																															catcgaccctgtgctccctgGgaagaaggttctccacatgc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:29454574G>A	ENST00000377127.3	-	1	1164	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	369						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GTGCTCCCTGGGAAGAAGGTT	0.517													21	80					0	0	0	0	A	29454574	G	A	29454574	3	1	364	1	0	0	0	0	1	0	0	0	9390	1232	43	4	32	4	MAS1L	6	29454574	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	29454574	141660493	626	69555	881	2									
OR2H2	7932	broad.mit.edu	37	chr6	29556101	29556101	+	Missense_Mutation	SNP	C	C	T																															ctacgtggctgtctgccagcCcctccactatgccaccatca																								rs137936888		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:29556101C>T	ENST00000383640.2	+	1	419	c.380C>T	c.(379-381)cCc>cTc	p.P127L	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	127					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GTCTGCCAGCCCCTCCACTAT	0.582													12	82					0	0	0	0	T	29556101	C	T	29556101	3	4	364	1	0	0	0	0	1	0	0	0	11073	623	22	4	382	4	OR2H2	6	29556101	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	101527	29556101	141558966	627	69556	882	2									
OR2H2	7932	broad.mit.edu	37	chr6	29556102	29556102	+	Silent	SNP	C	C	T																															tacgtggctgtctgccagccCctccactatgccaccatcat																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:29556102C>T	ENST00000383640.2	+	1	420	c.381C>T	c.(379-381)ccC>ccT	p.P127P	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	127					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TCTGCCAGCCCCTCCACTATG	0.577													13	82					0	0	0	0	T	29556102	C	T	29556102	2	4	364	1	0	0	0	0	0	0	0	1	11073	610	22	4		4	OR2H2	6	29556102	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	29556102	141558965	628	69557	882	2									
ABCF1	23	broad.mit.edu	37	chr6	30554047	30554047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcttcacttttccagaccCcccaccactcagccctccag	7	8	5	21	1	2	1	2	0	0	1	4	1	4	1	7	0	1	1	7	0	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:30554047C>T	ENST00000326195.8	+	18	1962	c.1850C>T	c.(1849-1851)cCc>cTc	p.P617L	ABCF1_ENST00000376545.3_Missense_Mutation_p.P579L|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	617					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TTTCCAGACCCCCCACCACTC	0.582													10	50					0	0	0	0	T	30554047	C	T	30554047	3	4	364	1	0	0	0	0	1	0	0	0	65	623	22	4	1920	4	ABCF1	6	30554047	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	997945	30554047	140561020	629	69558											
DHX16	8449	broad.mit.edu	37	chr6	30627339	30627339	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcagcaccaggagctcccgGattttggagcccaggcggcg	7	5	16	13	3	0	0	0	0	0	0	1	3	1	3	3	6	3	3	3	6	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:30627339G>A	ENST00000376442.3	-	12	2112	c.1917C>T	c.(1915-1917)atC>atT	p.I639I	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Silent_p.I158I	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	639	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GGAGCTCCCGGATTTTGGAGC	0.612													8	14					0	0	0	0	A	30627339	G	A	30627339	2	1	364	1	0	0	0	0	0	0	0	1	4539	1164	41	2		2	DHX16	6	30627339	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	73292	30627339	140487728	630	69559											
DDR1	780	broad.mit.edu	37	chr6	30862381	30862381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggtcctagagagccaccCccgtaccaggagccccggcc	8	3	11	19	2	0	1	0	0	0	1	1	3	1	2	9	3	3	1	9	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:30862381C>T	ENST00000361741.4	+	6	752	c.557C>T	c.(556-558)cCc>cTc	p.P186L	DDR1_ENST00000376570.4_Silent_p.P482P|DDR1_ENST00000376575.3_Silent_p.P482P|DDR1_ENST00000376569.3_Silent_p.P482P|DDR1_ENST00000376568.3_Silent_p.P482P|DDR1_ENST00000376567.2_Silent_p.P482P|DDR1_ENST00000324771.8_Silent_p.P482P|DDR1_ENST00000454612.2_Silent_p.P482P|DDR1_ENST00000508312.1_Silent_p.P500P|DDR1_ENST00000513240.1_Silent_p.P482P|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000418800.2_Silent_p.P482P|DDR1_ENST00000452441.1_Silent_p.P482P			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	459					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GAGAGCCACCCCCGTACCAGG	0.622													31	58					0	0	0	0	T	30862381	C	T	30862381	3	4	364	1	0	0	0	0	1	0	0	0	4368	610	22	4	1484	4	DDR1	6	30862381	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	235042	30862381	140252686	631	69560											
C6orf15	29113	broad.mit.edu	37	chr6	31079247	31079247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggcggaggactccaggagGaaatgggttattgatacctg	11	8	16	6	1	0	1	0	1	0	0	1	5	1	5	2	6	1	1	2	6	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31079247G>A	ENST00000259870.3	-	2	892	c.889C>T	c.(889-891)Cct>Tct	p.P297S		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	297	Pro-rich.									endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ACTCCAGGAGGAAATGGGTTA	0.522													18	51					0	0	0	0	A	31079247	G	A	31079247	3	1	364	1	0	0	0	0	1	0	0	0	2357	1174	41	2	92	2	C6orf15	6	31079247	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	216866	31079247	140035820	632	69561											
HLA-B	3106	broad.mit.edu	37	chr6	31324148	31324148	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgccgtcgtaggcgtactGgtcatgcccgcggaggaggc	5	8	16	12	5	1	0	1	0	0	0	2	2	1	2	2	5	3	2	2	5	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31324148G>A	ENST00000412585.2	-	3	443	c.415C>T	c.(415-417)Cag>Tag	p.Q139*		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TAGGCGTACTGGTCATGCCCG	0.701									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				4	8					0	0	0	0	A	31324148	G	A	31324148	4	1	364	1	0	0	0	0	0	1	0	0	7246	1357	47	4	693	4	HLA-B	6	31324148	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	244901	31324148	139790919	633	69562											
NEU1	4758	broad.mit.edu	37	chr6	31829148	31829148	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actactcctgtctcaacatcGctcactactgccccaaggtt	9	11	5	16	1	2	0	2	0	1	0	5	0	3	0	3	1	4	2	3	1	4	3	rs114405905	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31829148G>A	ENST00000375631.4	-	3	561	c.432C>T	c.(430-432)agC>agT	p.S144S		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	144						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	TCTCAACATCGCTCACTACTG	0.507													11	38					0	0	0	0	A	31829148	G	A	31829148	2	1	364	1	0	0	0	0	0	0	0	1	10411	1078	38	1		1	NEU1	6	31829148	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	505000	31829148	139285919	634	69563											
EHMT2	10919	broad.mit.edu	37	chr6	31864272	31864272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccccttgctgggggaagagGggaatgactttgtggcatgg	7	9	17	8	0	0	2	0	1	0	1	0	4	0	4	2	6	1	2	2	6	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31864272G>A	ENST00000395728.3	-	3	520	c.521C>T	c.(520-522)cCc>cTc	p.P174L	EHMT2_ENST00000375530.4_Missense_Mutation_p.P117L|EHMT2_ENST00000375537.4_Missense_Mutation_p.P117L|EHMT2_ENST00000375528.4_Missense_Mutation_p.P174L|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	117					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGGGGAAGAGGGGAATGACTT	0.537													23	101					0	0	0	0	A	31864272	G	A	31864272	3	1	364	1	0	0	0	0	1	0	0	0	5020	1232	43	4	3382	4	EHMT2	6	31864272	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	35124	31864272	139250795	635	69564											
CFB	629	broad.mit.edu	37	chr6	31919771	31919771	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtgctgccctggctgaaGgagaaactccaagatgagga	13	6	13	9	0	0	4	0	2	0	2	1	6	1	5	2	3	3	2	2	3	4	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31919771G>A	ENST00000556679.1	+	30	3820	c.3765G>A	c.(3763-3765)aaG>aaA	p.K1255K	CFB_ENST00000456570.1_Silent_p.K1255K|CFB_ENST00000477310.1_Silent_p.K1104K|CFB_ENST00000425368.2_Silent_p.K753K			P00751	CFAB_HUMAN	complement factor B	753					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						CCTGGCTGAAGGAGAAACTCC	0.502													44	242					0	0	0	0	A	31919771	G	A	31919771	2	1	364	1	0	0	0	0	0	0	0	1	3307	991	35	4		4	CFB	6	31919771	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	55499	31919771	139195296	636	69565											
TNXB	7148	broad.mit.edu	37	chr6	32021380	32021380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccatccaggacaggctgaggGagtcaggggtggcatctgtc	8	7	16	10	0	2	1	1	1	1	0	4	3	3	3	2	6	0	2	2	6	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:32021380G>A	ENST00000375244.3	-	25	8777	c.8576C>T	c.(8575-8577)tCc>tTc	p.S2859F	TNXB_ENST00000375247.2_Missense_Mutation_p.S2857F			P22105	TENX_HUMAN	tenascin XB	2906	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGCTGAGGGAGTCAGGGGT	0.652													39	36					0	0	0	0	A	32021380	G	A	32021380	3	1	364	1	0	0	0	0	1	0	0	0	16440	1174	41	2	6223	2	TNXB	6	32021380	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	101609	32021380	139093687	637	69566											
TNXB	7148	broad.mit.edu	37	chr6	32024532	32024532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccattcctgtactggaccagGaagtggtcaaactggccctc	9	9	10	13	0	1	0	1	0	0	0	3	2	2	2	4	4	2	1	4	4	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:32024532G>A	ENST00000375244.3	-	23	8175	c.7974C>T	c.(7972-7974)ttC>ttT	p.F2658F	TNXB_ENST00000375247.2_Silent_p.F2658F			P22105	TENX_HUMAN	tenascin XB	2718	Fibronectin type-III 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGGACCAGGAAGTGGTCAA	0.647													24	35					0	0	0	0	A	32024532	G	A	32024532	2	1	364	1	0	0	0	0	0	0	0	1	16440	1165	41	2		2	TNXB	6	32024532	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3152	32024532	139090535	638	69567											
COL11A2	1302	broad.mit.edu	37	chr6	33156965	33156965	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaaatctttgggaaatcctCctagtaaccgagagagatac	15	9	9	8	1	1	3	0	0	1	3	3	6	3	4	3	1	2	1	3	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33156965C>T	ENST00000341947.2	-	3	460	c.232_splice	c.e3-1	p.G78_splice	COL11A2_ENST00000374714.1_Splice_Site_p.G78_splice|COL11A2_ENST00000361917.1_Splice_Site_p.G78_splice|COL11A2_ENST00000374708.4_Splice_Site_p.G78_splice|COL11A2_ENST00000395197.1_Splice_Site_p.G78_splice|COL11A2_ENST00000357486.1_Splice_Site_p.G78_splice|COL11A2_ENST00000395194.1_Splice_Site_p.G78_splice|COL11A2_ENST00000374712.1_Splice_Site_p.G78_splice|COL11A2_ENST00000374713.1_Splice_Site_p.G78_splice	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	78	TSP N-terminal.				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						GGGAAATCCTCCTAGTAACCG	0.572													5	18					0	0	0	0	T	33156965	C	T	33156965	5	4	364	1	0	0	0	0	0	0	1	0	3698	869	30	2	5308	2	COL11A2	6	33156965	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1132433	33156965	137958102	639	69568											
VPS52	6293	broad.mit.edu	37	chr6	33232176	33232176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggccgagtatccaaccccCctaggcgctgggggtcagtg	6	6	16	13	2	1	0	1	0	0	0	2	1	2	0	5	5	1	2	5	5	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33232176C>T	ENST00000445902.2	-	14	1717	c.1499G>A	c.(1498-1500)gGg>gAg	p.G500E	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.G375E	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	500					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATCCAACCCCCCTAGGCGCTG	0.562													11	86					0	0	0	0	T	33232176	C	T	33232176	3	4	364	1	0	0	0	0	1	0	0	0	17310	623	22	4	700	4	VPS52	6	33232176	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	75211	33232176	137882891	640	69569											
RGL2	5863	broad.mit.edu	37	chr6	33261697	33261697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaaggactgcaaactcctgGgaaggagccctcaaactgca	14	5	11	11	0	1	0	1	0	0	0	2	4	2	3	2	3	5	2	2	3	4	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33261697G>A	ENST00000444031.2	-	11	1398	c.1254C>T	c.(1252-1254)tcC>tcT	p.S418S	RGL2_ENST00000437840.2_Intron|RGL2_ENST00000497454.1_Intron|PFDN6_ENST00000463584.1_Intron			O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	462	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CAAACTCCTGGGAAGGAGCCC	0.557													22	105					0	0	0	0	A	33261697	G	A	33261697	2	1	364	1	0	0	0	0	0	0	0	1	13359	1247	43	4		4	RGL2	6	33261697	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	29521	33261697	137853370	641	69570											
ZBTB22	9278	broad.mit.edu	37	chr6	33283298	33283298	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccaacgctacccggcaCacccaggctccccaccgacg	9	2	7	23	4	0	0	0	0	0	0	1	1	1	0	7	2	2	3	7	2	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33283298C>A	ENST00000431845.2	-	2	1547	c.1396G>T	c.(1396-1398)Gtg>Ttg	p.V466L	ZBTB22_ENST00000418724.1_Missense_Mutation_p.V466L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTACCCGGCACACCCAGGCTC	0.622													31	173					1.62565e-12	1.6688e-12	1	0	A	33283298	C	A	33283298	3	1	364	1	0	0	0	0	1	0	0	0	17625	478	17	4	512	4	ZBTB22	6	33283298	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	21601	33283298	137831769	642	69571											
ZBTB22	9278	broad.mit.edu	37	chr6	33283441	33283441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggttgccctgcatgtccaagGgaaggagcggtcgaggaggg	8	6	19	8	2	0	0	0	0	0	0	2	4	1	3	2	6	3	2	2	6	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33283441G>A	ENST00000431845.2	-	2	1404	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	ZBTB22_ENST00000418724.1_Missense_Mutation_p.P418L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CATGTCCAAGGGAAGGAGCGG	0.617													39	133					0	0	0	0	A	33283441	G	A	33283441	3	1	364	1	0	0	0	0	1	0	0	0	17625	1232	43	4	655	4	ZBTB22	6	33283441	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	143	33283441	137831626	643	69572											
ZBTB22	9278	broad.mit.edu	37	chr6	33284361	33284361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcggccagtgtaagcGgaggctaggacagtctcaaa	11	6	15	9	2	1	1	1	1	1	0	2	3	1	3	1	5	1	2	1	5	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33284361G>A	ENST00000431845.2	-	2	484	c.333C>T	c.(331-333)tcC>tcT	p.S111S	ZBTB22_ENST00000418724.1_Silent_p.S111S	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	111	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CAGTGTAAGCGGAGGCTAGGA	0.557													29	84					0	0	0	0	A	33284361	G	A	33284361	2	1	364	1	0	0	0	0	0	0	0	1	17625	1103	39	1		1	ZBTB22	6	33284361	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	920	33284361	137830706	644	69573											
SYNGAP1	8831	broad.mit.edu	37	chr6	33391298	33391298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacccaatacgttcattccCcgtatgatcgtcctggttgg	8	12	9	12	3	1	1	1	1	0	0	4	2	3	1	4	2	2	3	4	2	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33391298C>T	ENST00000418600.2	+	2	213	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P38S|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	38					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CGTTCATTCCCCGTATGATCG	0.542													38	177					0	0	0	0	T	33391298	C	T	33391298	3	4	364	1	0	0	0	0	1	0	0	0	15538	623	22	4	118	4	SYNGAP1	6	33391298	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	106937	33391298	137723769	645	69574											
ITPR3	3710	broad.mit.edu	37	chr6	33659606	33659606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagctggacagcacagagcgGgcctgtgacactctgttgat	9	8	14	10	1	1	3	0	2	1	1	1	5	1	4	1	2	3	3	1	2	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33659606G>A	ENST00000374316.5	+	55	8419	c.7359G>A	c.(7357-7359)cgG>cgA	p.R2453R	ITPR3_ENST00000605930.1_Silent_p.R2453R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2453					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCACAGAGCGGGCCTGTGACA	0.612													31	112					0	0	0	0	A	33659606	G	A	33659606	2	1	364	1	0	0	0	0	0	0	0	1	7975	1219	43	4		4	ITPR3	6	33659606	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	268308	33659606	137455461	646	69575											
IP6K3	117283	broad.mit.edu	37	chr6	33693272	33693272	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggtgctctgcgcacacttCctcatgtggcgggccttctt	4	12	12	13	2	3	0	1	0	2	0	4	1	4	0	2	3	2	2	2	3	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33693272C>T	ENST00000451316.1	-	6	1246	c.711G>A	c.(709-711)agG>agA	p.R237R	IP6K3_ENST00000293756.4_Silent_p.R237R	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	237					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GCGCACACTTCCTCATGTGGC	0.637													4	19					0	0	0	0	T	33693272	C	T	33693272	2	4	364	1	0	0	0	0	0	0	0	1	7843	854	30	2		2	IP6K3	6	33693272	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	33666	33693272	137421795	647	69576											
PACSIN1	29993	broad.mit.edu	37	chr6	34497235	34497235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagctggccatgacacGggagatgaacagcaagacgg	15	3	15	8	2	0	4	0	2	0	2	0	6	0	5	1	4	3	2	1	4	4	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:34497235G>A	ENST00000538621.1	+	5	763	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	PACSIN1_ENST00000244458.2_Missense_Mutation_p.R173Q|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000374043.2_Missense_Mutation_p.R131Q	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	173					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCCATGACACGGGAGATGAAC	0.537													8	44					0	0	0	0	A	34497235	G	A	34497235	3	1	364	1	0	0	0	0	1	0	0	0	11445	1116	39	1	532	1	PACSIN1	6	34497235	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	803963	34497235	136617832	648	69577											
BRPF3	27154	broad.mit.edu	37	chr6	36181743	36181743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaatcccccccggagcccCctactctgaaacccattaat	12	7	5	17	1	1	2	0	1	1	1	2	3	2	3	6	1	3	0	6	1	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:36181743C>T	ENST00000357641.6	+	8	2822	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S	BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.P857S	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	857					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCCGGAGCCCCCTACTCTGAA	0.512													24	77					0	0	0	0	T	36181743	C	T	36181743	3	4	364	1	0	0	0	0	1	0	0	0	1529	623	22	4	2595	4	BRPF3	6	36181743	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1684508	36181743	134933324	649	69578											
PNPLA1	285848	broad.mit.edu	37	chr6	36275453	36275453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccagaaaaggcttcccaaGacattcgggatccaaaaaac	17	5	7	12	1	0	2	0	0	0	2	3	3	2	3	3	2	1	1	3	2	6	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:36275453G>A	ENST00000394571.2	+	8	1559	c.1559G>A	c.(1558-1560)aGa>aAa	p.R520K	PNPLA1_ENST00000312917.5_Missense_Mutation_p.R434K|PNPLA1_ENST00000388715.3_Missense_Mutation_p.R425K	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	520					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GGCTTCCCAAGACATTCGGGA	0.473													10	54					0	0	0	0	A	36275453	G	A	36275453	3	1	364	1	0	0	0	0	1	0	0	0	12236	942	33	2	1616	2	PNPLA1	6	36275453	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	93710	36275453	134839614	650	69579											
FGD2	221472	broad.mit.edu	37	chr6	36982748	36982748	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacccctctaacaccctgctCcgtgagggcccggtcctcaa	7	7	9	18	2	2	1	1	1	1	0	4	2	4	1	6	2	2	1	6	2	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:36982748C>T	ENST00000274963.8	+	8	1134	c.963C>T	c.(961-963)ctC>ctT	p.L321L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	321	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACACCCTGCTCCGTGAGGGCC	0.632													6	32					0	0	0	0	T	36982748	C	T	36982748	2	4	364	1	0	0	0	0	0	0	0	1	5878	842	30	2		2	FGD2	6	36982748	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	707295	36982748	134132319	651	69580											
DNAH8	1769	broad.mit.edu	37	chr6	38790671	38790671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatttttacccgggggtagCggagcacaaggatatttcta	11	11	12	7	2	1	0	0	0	1	0	1	3	1	2	1	4	3	2	1	4	6	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:38790671C>T	ENST00000359357.3	+	25	3184	c.2930C>T	c.(2929-2931)gCg>gTg	p.A977V	DNAH8_ENST00000449981.2_Missense_Mutation_p.A1194V|DNAH8_ENST00000441566.1_Missense_Mutation_p.A977V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCGGGGGTAGCGGAGCACAAG	0.418													4	34					0	0	0	0	T	38790671	C	T	38790671	3	4	364	1	0	0	0	0	1	0	0	0	4643	768	27	1	3020	1	DNAH8	6	38790671	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1807923	38790671	132324396	652	69581											
GLP1R	2740	broad.mit.edu	37	chr6	39047475	39047475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagctctccttcacctccttCcaggtgacttcatgcttggg	5	13	9	14	0	3	1	2	1	1	0	6	2	5	1	4	2	2	2	4	2	0	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:39047475C>T	ENST00000373256.4	+	11	1222	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	393					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TCACCTCCTTCCAGGTGACTT	0.547													14	47					0	0	0	0	T	39047475	C	T	39047475	2	4	364	1	0	0	0	0	0	0	0	1	6503	854	30	2		2	GLP1R	6	39047475	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	256804	39047475	132067592	653	69582											
DAAM2	23500	broad.mit.edu	37	chr6	39869086	39869086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcccttgacagttcgccaaGgccttgatgcacttcgggga	7	10	12	12	2	0	2	0	2	0	0	3	3	1	3	3	3	1	2	3	3	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:39869086G>T	ENST00000538976.1	+	24	2999	c.2817G>T	c.(2815-2817)aaG>aaT	p.K939N	DAAM2_ENST00000398904.2_Missense_Mutation_p.K940N|DAAM2_ENST00000274867.4_Missense_Mutation_p.K940N	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	940	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGTTCGCCAAGGCCTTGATGC	0.572													44	155					2.52991e-16	2.61891e-16	1	0	T	39869086	G	T	39869086	3	4	364	1	0	0	0	0	1	0	0	0	4249	991	35	4	2907	4	DAAM2	6	39869086	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	821611	39869086	131245981	654	69583											
PRPH2	5961	broad.mit.edu	37	chr6	42689888	42689888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccccatccctatcaatgagTtgggcacaaaatggctctca	11	9	7	14	0	2	1	2	1	1	0	4	1	3	1	3	2	0	3	3	2	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:42689888T>C	ENST00000230381.5	-	1	424	c.185A>G	c.(184-186)aAc>aGc	p.N62S		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	62					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TATCAATGAGTTGGGCACAAA	0.507													23	80					0	0	0	0	C	42689888	T	C	42689888	3	2	364	1	0	0	0	0	1	0	0	0	12657	1725	60	5	867	5	PRPH2	6	42689888	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	2820802	42689888	128425179	655	69584											
PTCRA	171558	broad.mit.edu	37	chr6	42890854	42890854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtggtctgcctggtcCttgatgttgcaccccctggc	2	13	14	12	0	1	1	0	1	1	0	2	1	2	1	4	5	2	2	4	5	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:42890854C>T	ENST00000304672.1	+	2	229	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F	PTCRA_ENST00000441198.1_Intron|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	50						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTGCCTGGTCCTTGATGTTGC	0.602													27	55					0	0	0	0	T	42890854	C	T	42890854	3	4	364	1	0	0	0	0	1	0	0	0	12814	681	24	4	154	4	PTCRA	6	42890854	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	200966	42890854	128224213	656	69585											
ABCC10	89845	broad.mit.edu	37	chr6	43406424	43406424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcctggccacccaggaacCctggatccagtttgccacca	8	7	10	16	0	0	0	0	0	0	0	1	2	1	2	7	4	2	1	7	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:43406424C>T	ENST00000244533.3	+	6	2293	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	ABCC10_ENST00000372530.4_Missense_Mutation_p.P673L	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	673	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACCCAGGAACCCTGGATCCAG	0.582													40	41					0	0	0	0	T	43406424	C	T	43406424	3	4	364	1	0	0	0	0	1	0	0	0	50	623	22	4	1956	4	ABCC10	6	43406424	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	515570	43406424	127708643	657	69586											
AARS2	57505	broad.mit.edu	37	chr6	44273502	44273502	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcccaggtctccacacagtGacaaggaccaggccacttca	11	6	9	15	0	2	1	1	1	1	0	4	2	3	2	4	3	0	0	4	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:44273502G>C	ENST00000244571.4	-	10	1324	c.1322C>G	c.(1321-1323)tCa>tGa	p.S441*	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	441					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TCCACACAGTGACAAGGACCA	0.542													22	95					0	0	0	0	C	44273502	G	C	44273502	4	2	364	1	0	0	0	0	0	1	0	0	20	1294	45	2	1687	2	AARS2	6	44273502	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	867078	44273502	126841565	658	69587											
SPATS1	221409	broad.mit.edu	37	chr6	44320587	44320587	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcagtgagcctcctggcctCcccagagtgtctgcttacgt	5	11	11	14	1	2	2	1	1	1	1	4	2	4	2	5	1	3	1	5	1	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:44320587C>G	ENST00000288390.2	+	2	611	c.264C>G	c.(262-264)ctC>ctG	p.L88L	SPATS1_ENST00000323108.8_Silent_p.L88L			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	88										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCCTGGCCTCCCCAGAGTGT	0.507													8	55					0	0	0	0	G	44320587	C	G	44320587	2	3	364	1	0	0	0	0	0	0	0	1	15108	842	30	2		2	SPATS1	6	44320587	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	47085	44320587	126794480	659	69588											
RCAN2	10231	broad.mit.edu	37	chr6	46191013	46191013	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acacttggggtggactcagtCcctgcatggagctcatactt	8	11	11	11	0	2	0	2	0	0	0	3	2	3	2	1	4	3	2	1	4	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:46191013C>T	ENST00000371374.1	-	5	788	c.597G>A	c.(595-597)ggG>ggA	p.G199G	RCAN2_ENST00000405162.1_Silent_p.G199G|RCAN2_ENST00000330430.6_Silent_p.G153G|RCAN2_ENST00000306764.7_Silent_p.G199G	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	153					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TGGACTCAGTCCCTGCATGGA	0.498													27	104					0	0	0	0	T	46191013	C	T	46191013	2	4	364	1	0	0	0	0	0	0	0	1	13251	842	30	2		2	RCAN2	6	46191013	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1870426	46191013	124924054	660	69589											
GPR110	266977	broad.mit.edu	37	chr6	46993686	46993686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atttctcaaatctcttttctCcttggaatctctataggtca	9	18	4	10	0	5	0	2	0	4	0	9	1	5	1	1	2	0	0	1	2	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:46993686C>T	ENST00000371253.2	-	4	396	c.181G>A	c.(181-183)Gag>Aag	p.E61K	GPR110_ENST00000371243.2_Missense_Mutation_p.E61K|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	61					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TCTCTTTTCTCCTTGGAATCT	0.413													20	82					0	0	0	0	T	46993686	C	T	46993686	3	4	364	1	0	0	0	0	1	0	0	0	6676	864	30	2	2649	2	GPR110	6	46993686	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	802673	46993686	124121381	661	69590											
TNFRSF21	27242	broad.mit.edu	37	chr6	47253704	47253704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaacataagtggaggaagGgacttcatgggtttccatgt	11	10	15	5	0	1	0	1	0	0	0	2	4	2	4	1	5	1	1	1	5	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:47253704G>A	ENST00000296861.2	-	2	1117	c.724C>T	c.(724-726)Cct>Tct	p.P242S		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	242					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GTGGAGGAAGGGACTTCATGG	0.512													5	44					0	0	0	0	A	47253704	G	A	47253704	3	1	364	1	0	0	0	0	1	0	0	0	16389	1232	43	4	1263	4	TNFRSF21	6	47253704	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	260018	47253704	123861363	662	69591											
PKHD1	5314	broad.mit.edu	37	chr6	51944732	51944732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatctcgtggtcctggatttGgactgcttaccagctgtccc	5	14	10	12	1	1	0	0	0	1	0	4	2	3	2	3	3	3	2	3	3	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:51944732G>A	ENST00000371117.3	-	5	631	c.356C>T	c.(355-357)cCa>cTa	p.P119L	PKHD1_ENST00000340994.4_Missense_Mutation_p.P119L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	119					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCCTGGATTTGGACTGCTTAC	0.473													33	166					0	0	0	0	A	51944732	G	A	51944732	3	1	364	1	0	0	0	0	1	0	0	0	12043	1348	47	4	12159	4	PKHD1	6	51944732	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4691028	51944732	119170335	663	69592											
PKHD1	5314	broad.mit.edu	37	chr6	51947307	51947307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgtatctccaattgagagCcattgttggggtaaagaaca	12	11	12	6	0	1	2	0	1	1	2	2	3	1	2	2	3	2	3	2	3	5	5	rs148070358		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:51947307C>T	ENST00000371117.3	-	4	439	c.164G>A	c.(163-165)gGc>gAc	p.G55D	PKHD1_ENST00000340994.4_Missense_Mutation_p.G55D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	55	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAATTGAGAGCCATTGTTGGG	0.478													11	60					0	0	0	0	T	51947307	C	T	51947307	3	4	364	1	0	0	0	0	1	0	0	0	12043	739	26	4	12355	4	PKHD1	6	51947307	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2575	51947307	119167760	664	69593											
GSTA5	221357	broad.mit.edu	37	chr6	52701147	52701147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcaaccattggtacttgCtggaacagcaaactcccatc	12	10	6	13	0	1	0	1	0	1	0	4	1	2	1	2	2	6	3	2	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:52701147C>T	ENST00000370989.1	-	4	317	c.159G>A	c.(157-159)caG>caA	p.Q53Q	GSTA5_ENST00000284562.2_Silent_p.Q53Q|GSTA5_ENST00000475052.1_Intron			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	53	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTGGTACTTGCTGGAACAGCA	0.403													26	90					0	0	0	0	T	52701147	C	T	52701147	2	4	364	1	0	0	0	0	0	0	0	1	6884	796	28	4		4	GSTA5	6	52701147	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	753840	52701147	118413920	665	69594											
ICK	22858	broad.mit.edu	37	chr6	52878665	52878665	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggtgggactggcttaataTaaggaggtgggcctgccttt	8	11	15	7	0	0	0	0	0	0	0	0	2	0	2	2	6	1	1	2	6	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:52878665T>A	ENST00000356971.3	-	10	1436	c.947A>T	c.(946-948)tAt>tTt	p.Y316F	ICK_ENST00000350082.5_Missense_Mutation_p.Y316F	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	316					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TGGCTTAATATAAGGAGGTGG	0.532													13	35					0	0	0	0	A	52878665	T	A	52878665	3	1	364	1	0	0	0	0	1	0	0	0	7537	1406	49	5	975	5	ICK	6	52878665	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	177518	52878665	118236402	666	69595											
HMGCLL1	54511	broad.mit.edu	37	chr6	55381343	55381343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagattaggagtaaggacaGgatagcgaactcctggatat	15	8	13	5	1	0	1	0	0	0	1	1	7	1	5	1	4	2	1	1	4	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:55381343G>A	ENST00000398661.2	-	5	577	c.446C>T	c.(445-447)cCt>cTt	p.P149L	HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P119L|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	149							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGTAAGGACAGGATAGCGAAC	0.338													37	50					0	0	0	0	A	55381343	G	A	55381343	3	1	364	1	0	0	0	0	1	0	0	0	7280	1000	35	4	690	4	HMGCLL1	6	55381343	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2502678	55381343	115733724	667	69596											
COL21A1	81578	broad.mit.edu	37	chr6	56033060	56033060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatcttgttctgttactaaGagacgaatttggtgccagcc	10	13	9	9	1	2	1	0	0	2	1	2	3	2	1	2	1	3	2	2	1	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:56033060G>A	ENST00000244728.5	-	6	1459	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	COL21A1_ENST00000370819.1_Silent_p.L354L|COL21A1_ENST00000535941.1_Silent_p.L354L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	354	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGTTACTAAGAGACGAATTT	0.358													4	14					0	0	0	0	A	56033060	G	A	56033060	2	1	364	1	0	0	0	0	0	0	0	1	3710	929	33	2		2	COL21A1	6	56033060	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	651717	56033060	115082007	668	69597											
DST	667	broad.mit.edu	37	chr6	56457058	56457058	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtttgctcgctgtggcCtcacaggcctggagtccagc	6	10	13	12	1	1	0	1	0	0	0	3	1	2	1	3	3	2	3	3	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:56457058C>T	ENST00000370754.5	-	49	12731	c.12732G>A	c.(12730-12732)gaG>gaA	p.E4244E	DST_ENST00000361203.3_Silent_p.E4064E|DST_ENST00000370769.4_Silent_p.E4066E|DST_ENST00000244364.6_Silent_p.E1652E|DST_ENST00000421834.2_Silent_p.E1978E|DST_ENST00000312431.6_Silent_p.E4064E|DST_ENST00000370788.2_Silent_p.E1978E|DST_ENST00000446842.2_Silent_p.E3740E			Q03001	DYST_HUMAN	dystonin	4064					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCGCTGTGGCCTCACAGGCCT	0.428													3	23					0	0	0	0	T	56457058	C	T	56457058	2	4	364	1	0	0	0	0	0	0	0	1	4819	680	24	4		4	DST	6	56457058	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	423998	56457058	114658009	669	69598											
DST	667	broad.mit.edu	37	chr6	56468429	56468429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagattcctggttgtctaagGggggtttcatatcttgaagc	8	14	13	6	0	3	2	1	1	2	1	4	3	4	2	1	4	1	2	1	4	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:56468429G>A	ENST00000370754.5	-	40	10774	c.10775C>T	c.(10774-10776)cCc>cTc	p.P3592L	DST_ENST00000361203.3_Missense_Mutation_p.P3414L|DST_ENST00000370769.4_Missense_Mutation_p.P3414L|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.P3414L|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.P3088L			Q03001	DYST_HUMAN	dystonin	3414					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTGTCTAAGGGGGGTTTCAT	0.383													81	128					0	0	0	0	A	56468429	G	A	56468429	3	1	364	1	0	0	0	0	1	0	0	0	4819	1247	43	4		4	DST	6	56468429	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	11371	56468429	114646638	670	69599											
DST	667	broad.mit.edu	37	chr6	56504804	56504804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttatgattttctaaatGgctttcaacacttggcaaat	12	18	5	6	0	2	1	1	1	1	0	2	1	2	1	0	2	1	2	0	2	5	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:56504804G>A	ENST00000370754.5	-	18	2442	c.2443C>T	c.(2443-2445)Cat>Tat	p.H815Y	DST_ENST00000361203.3_Missense_Mutation_p.H637Y|DST_ENST00000370769.4_Missense_Mutation_p.H637Y|DST_ENST00000244364.6_Missense_Mutation_p.H311Y|DST_ENST00000421834.2_Missense_Mutation_p.H637Y|DST_ENST00000312431.6_Missense_Mutation_p.H637Y|DST_ENST00000370765.6_Missense_Mutation_p.H311Y|DST_ENST00000370788.2_Missense_Mutation_p.H637Y|DST_ENST00000518935.1_Missense_Mutation_p.H311Y|DST_ENST00000446842.2_Missense_Mutation_p.H311Y			Q03001	DYST_HUMAN	dystonin	637					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTCTAAATGGCTTTCAACA	0.313													18	70					0	0	0	0	A	56504804	G	A	56504804	3	1	364	1	0	0	0	0	1	0	0	0	4819	1348	47	4	19544	4	DST	6	56504804	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	36375	56504804	114610263	671	69600											
PRIM2	5558	broad.mit.edu	37	chr6	57398275	57398275	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggaacagacattgcagttCtggaagcaagaatttatcaa	15	11	9	6	0	2	2	1	0	1	2	2	4	2	4	0	2	3	3	0	2	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:57398275C>T	ENST00000607273.1	+	10	1065	c.978C>T	c.(976-978)ttC>ttT	p.F326F	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	326					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CATTGCAGTTCTGGAAGCAAG	0.378													21	170					0	0	0	0	T	57398275	C	T	57398275	2	4	364	1	0	0	0	0	0	0	0	1	12571	912	32	2		2	PRIM2	6	57398275	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	893471	57398275	113716792	672	69601											
COL19A1	1310	broad.mit.edu	37	chr6	70881893	70881893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggttgccaggattagaagGatttccaggtgtaaaggtaa	12	10	15	4	0	0	1	0	0	0	1	1	3	1	3	2	6	1	3	2	6	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:70881893G>A	ENST00000322773.4	+	41	2708	c.2606G>A	c.(2605-2607)gGa>gAa	p.G869E	COL19A1_ENST00000393344.1_Missense_Mutation_p.G491E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	869	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGATTAGAAGGATTTCCAGGT	0.358													10	57					0	0	0	0	A	70881893	G	A	70881893	3	1	364	1	0	0	0	0	1	0	0	0	3706	1174	41	2	2764	2	COL19A1	6	70881893	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	13483618	70881893	100233174	673	69602											
RIMS1	22999	broad.mit.edu	37	chr6	72961047	72961047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaggcgacatattcatggaGaaagctctagcaaaaagcta	17	7	9	8	1	2	1	1	0	1	1	2	3	2	1	0	2	3	3	0	2	7	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:72961047G>A	ENST00000264839.7	+	15	2674	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K	RIMS1_ENST00000523963.1_Missense_Mutation_p.E366K|RIMS1_ENST00000522291.1_Missense_Mutation_p.E892K|RIMS1_ENST00000425662.2_Missense_Mutation_p.E285K|RIMS1_ENST00000491071.2_Missense_Mutation_p.E892K|RIMS1_ENST00000521978.1_Missense_Mutation_p.E892K|RIMS1_ENST00000520567.1_Missense_Mutation_p.E892K|RIMS1_ENST00000348717.5_Missense_Mutation_p.E892K|RIMS1_ENST00000518273.1_Missense_Mutation_p.E892K|RIMS1_ENST00000401910.3_Missense_Mutation_p.E366K|RIMS1_ENST00000517960.1_Missense_Mutation_p.E892K|RIMS1_ENST00000517827.1_Missense_Mutation_p.E351K			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	892					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)				TATTCATGGAGAAAGCTCTAG	0.383													4	6					0	0	0	0	A	72961047	G	A	72961047	3	1	364	1	0	0	0	0	1	0	0	0	13452	943	33	2	2895	2	RIMS1	6	72961047	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2079154	72961047	98154020	674	69603											
DPPA5	340168	broad.mit.edu	37	chr6	74063936	74063936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggatatgtctacgtgccgGgagagttcccatcttatgac	8	11	12	10	3	2	2	0	1	2	1	3	4	3	3	2	2	2	1	2	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:74063936G>A	ENST00000370370.3	-	1	82	c.13C>T	c.(13-15)Ccg>Tcg	p.P5S		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	5					multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						CTACGTGCCGGGAGAGTTCCC	0.582													3	24					0	0	0	0	A	74063936	G	A	74063936	3	1	364	1	0	0	0	0	1	0	0	0	4773	1232	43	4	349	4	DPPA5	6	74063936	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1102889	74063936	97051131	675	69604											
EEF1A1	1915	broad.mit.edu	37	chr6	74228094	74228094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctgagcagtgaagccagCtgcttccattggtgggtcat	8	11	12	10	0	1	2	1	2	0	0	2	2	2	2	3	2	5	3	3	2	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:74228094C>T	ENST00000316292.9	-	5	2003	c.1012G>A	c.(1012-1014)Gct>Act	p.A338T	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.A338T|EEF1A1_ENST00000309268.6_Missense_Mutation_p.A338T	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	338						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTGAAGCCAGCTGCTTCCATT	0.423											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	71					0	0	0	0	T	74228094	C	T	74228094	3	4	364	1	0	0	0	0	1	0	0	0	4959	797	28	4	388	4	EEF1A1	6	74228094	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	164158	74228094	96886973	676	69605											
COL12A1	1303	broad.mit.edu	37	chr6	75892813	75892813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcaattctaaggcagataGactgtgtgagttcaaaagat	14	11	10	6	0	3	4	2	1	1	3	3	4	3	4	0	1	0	3	0	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:75892813G>A	ENST00000322507.8	-	10	2153	c.1844C>T	c.(1843-1845)tCt>tTt	p.S615F	COL12A1_ENST00000416123.2_Missense_Mutation_p.S615F|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.S615F	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	615	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAGGCAGATAGACTGTGTGAG	0.378													16	54					0	0	0	0	A	75892813	G	A	75892813	3	1	364	1	0	0	0	0	1	0	0	0	3699	942	33	2	7575	2	COL12A1	6	75892813	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1664719	75892813	95222254	677	69606											
FILIP1	27145	broad.mit.edu	37	chr6	76023594	76023594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcttctgtcttcatcaaatCcccttcgaccacttccaatt	9	15	2	15	1	5	0	2	0	3	0	8	1	7	0	4	0	0	0	4	0	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:76023594C>T	ENST00000393004.2	-	5	2175	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.D652N|FILIP1_ENST00000370020.1_Missense_Mutation_p.D553N			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	652										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCATCAAATCCCCTTCGACC	0.418													59	227					0	0	0	0	T	76023594	C	T	76023594	3	4	364	1	0	0	0	0	1	0	0	0	5939	855	30	2	1695	2	FILIP1	6	76023594	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	130781	76023594	95091473	678	69607											
IMPG1	3617	broad.mit.edu	37	chr6	76744039	76744039	+	Missense_Mutation	SNP	G	G	A																															tttgggtacttgcctgtcagGgaaacttctctgttttattc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:76744039G>A	ENST00000369963.3	-	3	445	c.256C>T	c.(256-258)Cct>Tct	p.P86S	IMPG1_ENST00000369950.3_Missense_Mutation_p.P164S			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	164					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGCCTGTCAGGGAAACTTCTC	0.338													12	31					0	0	0	0	A	76744039	G	A	76744039	3	1	364	1	0	0	0	0	1	0	0	0	7781	1232	43	4	1959	4	IMPG1	6	76744039	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	720445	76744039	94371028	679	69608	883	2									
IMPG1	3617	broad.mit.edu	37	chr6	76744040	76744040	+	Silent	SNP	G	G	A																															ttgggtacttgcctgtcaggGaaacttctctgttttattct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:76744040G>A	ENST00000369963.3	-	3	444	c.255C>T	c.(253-255)ttC>ttT	p.F85F	IMPG1_ENST00000369950.3_Silent_p.F163F			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	163					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCCTGTCAGGGAAACTTCTCT	0.338													12	31					0	0	0	0	A	76744040	G	A	76744040	2	1	364	1	0	0	0	0	0	0	0	1	7781	1165	41	2		2	IMPG1	6	76744040	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	76744040	94371027	680	69609	883	2									
IMPG1	3617	broad.mit.edu	37	chr6	76744384	76744384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggaattgctgaagttttttCcaatgtcaaagaggcagaag	13	11	12	5	0	1	3	1	1	0	2	2	4	2	4	1	2	1	3	1	2	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:76744384C>T	ENST00000369963.3	-	2	377	c.188G>A	c.(187-189)gGa>gAa	p.G63E	IMPG1_ENST00000369950.3_Missense_Mutation_p.G141E			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	141					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.G141E(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAAGTTTTTTCCAATGTCAAA	0.507													23	86					0	0	0	0	T	76744384	C	T	76744384	3	4	364	1	0	0	0	0	1	0	0	0	7781	855	30	2	2031	2	IMPG1	6	76744384	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	344	76744384	94370683	681	69610											
TPBG	7162	broad.mit.edu	37	chr6	83075562	83075562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttttcctggacaacaatcCctgggtctgcgactgccaca	8	10	10	13	1	1	0	0	0	1	0	3	2	3	1	3	3	3	1	3	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:83075562C>T	ENST00000369750.3	+	2	1501	c.884C>T	c.(883-885)cCc>cTc	p.P295L	TPBG_ENST00000535040.1_Missense_Mutation_p.P295L|TPBG_ENST00000543496.1_Missense_Mutation_p.P295L			Q13641	TPBG_HUMAN	trophoblast glycoprotein	295	LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GACAACAATCCCTGGGTCTGC	0.552													13	67					0	0	0	0	T	83075562	C	T	83075562	3	4	364	1	0	0	0	0	1	0	0	0	16489	623	22	4	886	4	TPBG	6	83075562	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	6331178	83075562	88039505	682	69611											
DOPEY1	23033	broad.mit.edu	37	chr6	83848374	83848374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgtcatctatctttaGtgctcagaaatggcatagtg	9	16	9	7	0	4	1	2	0	2	1	4	1	4	1	0	1	2	3	0	1	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:83848374G>C	ENST00000349129.2	+	21	4873	c.4613G>C	c.(4612-4614)aGt>aCt	p.S1538T	DOPEY1_ENST00000369739.3_Missense_Mutation_p.S1529T|DOPEY1_ENST00000237163.5_Missense_Mutation_p.S1519T|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1538					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTATCTTTAGTGCTCAGAAA	0.388													15	55					0	0	0	0	C	83848374	G	C	83848374	3	2	364	1	0	0	0	0	1	0	0	0	4743	1029	36	4	4687	4	DOPEY1	6	83848374	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	772812	83848374	87266693	683	69612											
MRAP2	112609	broad.mit.edu	37	chr6	84765138	84765138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttatgagattggaccagtttCctttgaaggactgaaggctc	10	13	11	7	0	0	3	0	3	0	1	2	6	1	5	2	3	0	2	2	3	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:84765138C>T	ENST00000257776.4	+	2	236	c.101C>T	c.(100-102)tCc>tTc	p.S34F		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	34					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GGACCAGTTTCCTTTGAAGGA	0.373													13	47					0	0	0	0	T	84765138	C	T	84765138	3	4	364	1	0	0	0	0	1	0	0	0	9824	855	30	2	103	2	MRAP2	6	84765138	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	916764	84765138	86349929	684	69613											
ZNF292	23036	broad.mit.edu	37	chr6	87968650	87968650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattaaaactgctatgaattCtcaaatacttgaggtaaaaa	18	13	5	5	0	1	2	1	2	1	0	2	2	1	2	0	1	3	2	0	1	10	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:87968650C>T	ENST00000369577.3	+	8	5346	c.5303C>T	c.(5302-5304)tCt>tTt	p.S1768F	ZNF292_ENST00000339907.4_Missense_Mutation_p.S1763F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1768					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCTATGAATTCTCAAATACTT	0.318													8	16					0	0	0	0	T	87968650	C	T	87968650	3	4	364	1	0	0	0	0	1	0	0	0	17921	913	32	2	5333	2	ZNF292	6	87968650	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3203512	87968650	83146417	685	69614											
MDN1	23195	broad.mit.edu	37	chr6	90380682	90380682	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcaagcacagagagcaGctttgcagtactacggtgag	11	7	14	9	1	0	2	0	1	0	1	0	3	0	2	0	2	6	6	0	2	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:90380682G>A	ENST00000369393.3	-	83	14027	c.13912C>T	c.(13912-13914)Ctg>Ttg	p.L4638L	MDN1_ENST00000428876.1_Silent_p.L4638L|MDN1_ENST00000468568.1_5'UTR			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4638					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACAGAGAGCAGCTTTGCAGTA	0.532													21	73					0	0	0	0	A	90380682	G	A	90380682	2	1	364	1	0	0	0	0	0	0	0	1	9484	962	34	4		4	MDN1	6	90380682	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2412032	90380682	80734385	686	69615											
MDN1	23195	broad.mit.edu	37	chr6	90398396	90398396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgtgcttctggaacattggGatgctggtagaagtcatagg	9	11	14	7	1	2	1	1	0	1	1	2	3	2	3	1	4	3	3	1	4	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:90398396G>A	ENST00000369393.3	-	66	11270	c.11155C>T	c.(11155-11157)Ccc>Tcc	p.P3719S	MDN1_ENST00000428876.1_Missense_Mutation_p.P3719S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3719					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGAACATTGGGATGCTGGTAG	0.532													17	19					0	0	0	0	A	90398396	G	A	90398396	3	1	364	1	0	0	0	0	1	0	0	0	9484	1174	41	2	5783	2	MDN1	6	90398396	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	17714	90398396	80716671	687	69616											
CASP8AP2	9994	broad.mit.edu	37	chr6	90577717	90577717	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaattattgacatctttgCccagacatggaaaggaagct	14	11	9	7	0	1	3	0	2	1	1	1	5	1	5	1	2	2	1	1	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:90577717C>T	ENST00000551025.1	+	0	6145							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	p.S1568fs*1(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GACATCTTTGCCCAGACATGG	0.388													45	167					0	0	0	0	T	90577717	C	T	90577717	1	4	364	0	1	0	0	0	0	0	0	0	2703	739	26	4		4	CASP8AP2	6	90577717	RNA	SNP	C	TCGA-D6-6516-01A-11D-1870-08	179321	90577717	80537350	688	69617											
SIM1	6492	broad.mit.edu	37	chr6	100841642	100841642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgtaggcgcacgatgcgtCgtgctgggagccaggcctat	6	9	15	11	4	1	0	0	0	1	0	2	2	1	1	2	3	3	3	2	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:100841642C>T	ENST00000369208.3	-	11	2073	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N	SIM1_ENST00000262901.4_Missense_Mutation_p.D431N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	431	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CACGATGCGTCGTGCTGGGAG	0.602													18	35					0	0	0	0	T	100841642	C	T	100841642	3	4	364	1	0	0	0	0	1	0	0	0	14411	884	31	1	1017	1	SIM1	6	100841642	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	10263925	100841642	70273425	689	69618											
HACE1	57531	broad.mit.edu	37	chr6	105198279	105198279	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacatatgaaagccctgtaaAaaagcattgatctgaggctg	16	9	9	7	0	1	3	0	3	1	0	1	3	1	3	1	1	3	3	1	1	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105198279A>G	ENST00000262903.4	-	20	2556	c.2280T>C	c.(2278-2280)ttT>ttC	p.F760F	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Silent_p.F545F	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	760	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGCCCTGTAAAAAAGCATTGA	0.383													10	36					0	0	0	0	G	105198279	A	G	105198279	2	3	364	1	0	0	0	0	0	0	0	1	6990	11	1	5		5	HACE1	6	105198279	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	4356637	105198279	65916788	690	69619											
HACE1	57531	broad.mit.edu	37	chr6	105224670	105224670	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgactatctcattggacaGaatatcaaaccactcacgca	15	10	5	11	1	3	2	3	1	1	1	4	3	3	3	1	1	1	1	1	1	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105224670G>A	ENST00000262903.4	-	17	2086	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Intron	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	604	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TCATTGGACAGAATATCAAAC	0.338													10	38					0	0	0	0	A	105224670	G	A	105224670	2	1	364	1	0	0	0	0	0	0	0	1	6990	933	33	2		2	HACE1	6	105224670	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	26391	105224670	65890397	691	69620											
BVES	11149	broad.mit.edu	37	chr6	105563586	105563586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggacatgctggaggtaccCcgaagaaactggtgcaagcc	12	5	14	10	1	0	1	0	0	0	1	0	5	0	3	3	4	5	3	3	4	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105563586C>T	ENST00000314641.5	-	7	1149	c.933G>A	c.(931-933)cgG>cgA	p.R311R	BVES_ENST00000446408.2_Silent_p.R311R|BVES_ENST00000336775.5_Silent_p.R311R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	311					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TGGAGGTACCCCGAAGAAACT	0.473													16	76					0	0	0	0	T	105563586	C	T	105563586	2	4	364	1	0	0	0	0	0	0	0	1	1584	610	22	4		4	BVES	6	105563586	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	338916	105563586	65551481	692	69621											
PREP	5550	broad.mit.edu	37	chr6	105726198	105726198	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtactgaagggtggcaatgaActtcagggagtgaagcggga	12	7	17	5	1	1	3	1	3	0	0	1	5	1	5	0	4	3	2	0	4	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105726198A>G	ENST00000369110.3	-	15	2146	c.1954T>C	c.(1954-1956)Ttc>Ctc	p.F652L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	652					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GTGGCAATGAACTTCAGGGAG	0.587													7	37					0	0	0	0	G	105726198	A	G	105726198	3	3	364	1	0	0	0	0	1	0	0	0	12554	43	2	5	182	5	PREP	6	105726198	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	162612	105726198	65388869	693	69622											
BEND3	57673	broad.mit.edu	37	chr6	107390290	107390290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaccaccagctcgtccaagGggatcttgcaaaagtccttg	10	8	11	12	1	1	0	0	0	1	0	4	2	3	2	4	3	2	2	4	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:107390290G>A	ENST00000429433.2	-	5	2754	c.2105C>T	c.(2104-2106)cCc>cTc	p.P702L	BEND3_ENST00000369042.1_Missense_Mutation_p.P702L	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	702										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CTCGTCCAAGGGGATCTTGCA	0.617													10	74					0	0	0	0	A	107390290	G	A	107390290	3	1	364	1	0	0	0	0	1	0	0	0	1403	1232	43	4	385	4	BEND3	6	107390290	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1664092	107390290	63724777	694	69623											
WASF1	8936	broad.mit.edu	37	chr6	110422844	110422844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcactgattacaggtaggGttgatggatggcgctttggc	8	12	14	7	1	1	2	1	2	0	0	1	3	1	3	0	5	1	3	0	5	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:110422844G>A	ENST00000392589.1	-	10	2305	c.1469C>T	c.(1468-1470)aCc>aTc	p.T490I	WASF1_ENST00000392588.1_Missense_Mutation_p.T490I|WASF1_ENST00000359451.2_Missense_Mutation_p.T490I|WASF1_ENST00000392587.2_Missense_Mutation_p.T490I|WASF1_ENST00000392586.1_Missense_Mutation_p.T490I	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	490					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TACAGGTAGGGTTGATGGATG	0.468													32	123					0	0	0	0	A	110422844	G	A	110422844	3	1	364	1	0	0	0	0	1	0	0	0	17348	1261	44	4	218	4	WASF1	6	110422844	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3032554	110422844	60692223	695	69624											
GPRC6A	222545	broad.mit.edu	37	chr6	117128036	117128036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaacatggaattgcctcaGaaataccacaatgacattaa	20	8	5	8	0	1	2	1	1	0	1	1	3	1	3	2	1	3	0	2	1	7	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:117128036G>A	ENST00000310357.3	-	3	853	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	GPRC6A_ENST00000368549.3_Silent_p.L278L|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	278					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AATTGCCTCAGAAATACCACA	0.353													14	60					0	0	0	0	A	117128036	G	A	117128036	2	1	364	1	0	0	0	0	0	0	0	1	6778	933	33	2		2	GPRC6A	6	117128036	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6705192	117128036	53987031	696	69625											
ROS1	6098	broad.mit.edu	37	chr6	117609777	117609777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atctttgtctgcatgtggttCcttctcttctttcctcagac	4	19	6	12	0	5	1	1	0	4	1	8	1	7	1	2	1	1	2	2	1	0	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:117609777C>T	ENST00000368508.3	-	43	7120	c.6922G>A	c.(6922-6924)Gaa>Aaa	p.E2308K	ROS1_ENST00000368507.3_Missense_Mutation_p.E2302K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2308					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E2308Q(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCATGTGGTTCCTTCTCTTCT	0.483			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								17	60					0	0	0	0	T	117609777	C	T	117609777	3	4	364	1	0	0	0	0	1	0	0	0	13616	864	30	2	125	2	ROS1	6	117609777	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	481741	117609777	53505290	697	69626											
ROS1	6098	broad.mit.edu	37	chr6	117718139	117718139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttctctgtgtccctgcatCtaatttttgatttttgctga	5	20	8	8	0	2	2	0	2	2	0	4	2	3	2	1	1	2	3	1	1	1	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:117718139C>T	ENST00000368508.3	-	7	916	c.718G>A	c.(718-720)Gat>Aat	p.D240N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.D249N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	240	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTCCCTGCATCTAATTTTTGA	0.408			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								32	121					0	0	0	0	T	117718139	C	T	117718139	3	4	364	1	0	0	0	0	1	0	0	0	13616	913	32	2	6473	2	ROS1	6	117718139	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	108362	117718139	53396928	698	69627											
SLC35F1	222553	broad.mit.edu	37	chr6	118475784	118475784	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacactagccgtcagacaagGtaagctcacaaaagcaccag	16	4	8	13	1	2	1	2	0	0	1	2	1	2	1	2	1	3	3	2	1	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:118475784G>A	ENST00000360388.4	+	2	550		c.e2+1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTCAGACAAGGTAAGCTCACA	0.403													29	137					0	0	0	0	A	118475784	G	A	118475784	5	1	364	1	0	0	0	0	0	0	1	0	14676	1275	44	4	356	4	SLC35F1	6	118475784	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	757645	118475784	52639283	699	69628											
THEMIS	387357	broad.mit.edu	37	chr6	128134451	128134451	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtttacagagctcagaaatCgggtactgtttcttatcatg	10	15	9	7	1	3	2	2	0	1	2	4	2	3	2	0	1	3	4	0	1	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:128134451C>T	ENST00000368250.1	-	5	1596	c.1098G>A	c.(1096-1098)ccG>ccA	p.P366P	THEMIS_ENST00000368248.2_Silent_p.P445P|THEMIS_ENST00000537166.1_Silent_p.P410P|THEMIS_ENST00000543064.1_Silent_p.P445P			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	445	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTCAGAAATCGGGTACTGTT	0.468													32	115					0	0	0	0	T	128134451	C	T	128134451	2	4	364	1	0	0	0	0	0	0	0	1	15954	871	31	1		1	THEMIS	6	128134451	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	9658667	128134451	42980616	700	69629											
THEMIS	387357	broad.mit.edu	37	chr6	128150863	128150863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgagtttgatgattcCttgctactgcacagctcacc	9	13	9	10	0	1	4	1	4	0	0	2	4	2	4	2	0	4	4	2	0	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:128150863C>T	ENST00000368250.1	-	4	728	c.230G>A	c.(229-231)aGg>aAg	p.R77K	THEMIS_ENST00000368248.2_Missense_Mutation_p.R156K|THEMIS_ENST00000537166.1_Missense_Mutation_p.R121K|THEMIS_ENST00000543064.1_Missense_Mutation_p.R156K			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	156	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTGATGATTCCTTGCTACTGC	0.378													14	109					0	0	0	0	T	128150863	C	T	128150863	3	4	364	1	0	0	0	0	1	0	0	0	15954	681	24	4	1595	4	THEMIS	6	128150863	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	16412	128150863	42964204	701	69630											
PTPRK	5796	broad.mit.edu	37	chr6	128411004	128411004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgctctcgttgtgaccacgGaagtaatggtagcagatagt	10	12	12	7	2	1	2	0	1	1	1	2	3	1	3	1	2	2	5	1	2	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:128411004G>A	ENST00000368227.3	-	8	1662	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	PTPRK_ENST00000368226.4_Silent_p.F432F|PTPRK_ENST00000368210.3_Silent_p.F432F|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Silent_p.F432F|PTPRK_ENST00000368215.3_Silent_p.F432F|PTPRK_ENST00000532331.1_Silent_p.F432F|PTPRK_ENST00000368207.3_Silent_p.F432F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	432	Fibronectin type-III 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGTGACCACGGAAGTAATGGT	0.483													16	66					0	0	0	0	A	128411004	G	A	128411004	2	1	364	1	0	0	0	0	0	0	0	1	12887	1165	41	2		2	PTPRK	6	128411004	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	260141	128411004	42704063	702	69631											
LAMA2	3908	broad.mit.edu	37	chr6	129634086	129634086	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaactgtcatccaaaattCtctggtgcaaaatgtacaga	14	11	7	9	0	2	1	1	0	1	1	4	1	3	1	1	1	4	3	1	1	6	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:129634086C>T	ENST00000421865.2	+	23	3304	c.3255C>T	c.(3253-3255)ttC>ttT	p.F1085F		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1085	Laminin EGF-like 12.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCCAAAATTCTCTGGTGCAA	0.473													5	36					0	0	0	0	T	129634086	C	T	129634086	2	4	364	1	0	0	0	0	0	0	0	1	8659	912	32	2		2	LAMA2	6	129634086	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1223082	129634086	41480981	703	69632											
LAMA2	3908	broad.mit.edu	37	chr6	129802480	129802480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaattgatgtaggaacaGaaatcaacctgtcattcagc	14	10	8	9	0	3	2	3	1	0	1	3	3	3	3	2	1	4	1	2	1	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:129802480G>A	ENST00000421865.2	+	55	7694	c.7645G>A	c.(7645-7647)Gaa>Aaa	p.E2549K	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2549	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGTAGGAACAGAAATCAACCT	0.463													26	95					0	0	0	0	A	129802480	G	A	129802480	3	1	364	1	0	0	0	0	1	0	0	0	8659	943	33	2	7863	2	LAMA2	6	129802480	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	168394	129802480	41312587	704	69633											
EPB41L2	2037	broad.mit.edu	37	chr6	131211548	131211548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgggtgcggccactatagcGaaatttggaccccaaggtca	10	9	12	10	2	1	0	1	0	0	0	1	2	1	1	3	4	2	0	3	4	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:131211548G>A	ENST00000337057.3	-	11	1727	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	EPB41L2_ENST00000529208.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R516C|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R516C|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R516C|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R516C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	516	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCACTATAGCGAAATTTGGAC	0.517													54	76					0	0	0	0	A	131211548	G	A	131211548	3	1	364	1	0	0	0	0	1	0	0	0	5191	1058	37	1	1507	1	EPB41L2	6	131211548	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1409068	131211548	39903519	705	69634											
CTAGE9	643854	broad.mit.edu	37	chr6	132029995	132029995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttcctggaggaggtgggggGaaaggaggtcctcttctcat	7	10	17	7	0	2	0	1	0	2	0	5	4	4	4	2	8	0	1	2	8	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:132029995G>A	ENST00000314099.8	-	1	2211	c.2163C>T	c.(2161-2163)ttC>ttT	p.F721F	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	721	Pro-rich.					integral to membrane				endometrium(1)|lung(1)	2						GAGGTGGGGGGAAAGGAGGTC	0.522													44	142					0	0	0	0	A	132029995	G	A	132029995	2	1	364	1	0	0	0	0	0	0	0	1	4028	1165	41	2		2	CTAGE9	6	132029995	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	818447	132029995	39085072	706	69635											
VNN1	8876	broad.mit.edu	37	chr6	133014449	133014449	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgattttcacccatgaaaagGttttgctgcaataaacagaa	15	12	7	7	0	1	3	1	2	0	1	1	3	1	3	1	1	3	3	1	1	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:133014449G>A	ENST00000367928.4	-	4	553	c.540C>T	c.(538-540)aaC>aaT	p.N180N		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	180	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	p.N180K(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCATGAAAAGGTTTTGCTGCA	0.363													8	32					0	0	0	0	A	133014449	G	A	133014449	2	1	364	1	0	0	0	0	0	0	0	1	17278	1252	44	4		4	VNN1	6	133014449	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	984454	133014449	38100618	707	69636											
AHI1	54806	broad.mit.edu	37	chr6	135811762	135811762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatgatcatttacttactGagatgttttcttcagacctg	10	16	6	9	0	3	3	2	2	1	2	3	4	3	3	2	0	2	1	2	0	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:135811762G>A	ENST00000534469.1	-	3	515	c.134C>T	c.(133-135)tCa>tTa	p.S45L	AHI1_ENST00000488690.2_Splice_Site_p.S45_splice|AHI1_ENST00000327035.6_Splice_Site_p.S45_splice|AHI1_ENST00000367798.2_Splice_Site_p.S45_splice|AHI1_ENST00000367800.4_Splice_Site_p.S45_splice|AHI1_ENST00000457866.2_Splice_Site_p.S45_splice|AHI1_ENST00000528103.1_Missense_Mutation_p.S45L			Q8N157	AHI1_HUMAN	Abelson helper integration site 1	45						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTTACTTACTGAGATGTTTTC	0.318													29	140					0	0	0	0	A	135811762	G	A	135811762	3	1	364	1	0	0	0	0	1	0	0	0	413	1304	45	2	3613	2	AHI1	6	135811762	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2797313	135811762	35303305	708	69637											
TNFAIP3	7128	broad.mit.edu	37	chr6	138202171	138202171	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcctgttctttccactcaGagatcgagccagcgcagaga	9	9	10	13	2	2	2	1	0	1	2	4	5	3	2	3	0	3	2	3	0	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:138202171G>A	ENST00000237289.4	+	9	2154		c.e9-1			NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3						anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TTTCCACTCAGAGATCGAGCC	0.522			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								18	63					0	0	0	0	A	138202171	G	A	138202171	5	1	364	1	0	0	0	0	0	0	1	0	16368	956	33	2	2118	2	TNFAIP3	6	138202171	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2390409	138202171	32912896	709	69638											
NMBR	4829	broad.mit.edu	37	chr6	142409721	142409721	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccggcaggaaatccctttcCcacccctcgggaacggaacc	9	5	10	17	3	0	0	0	0	0	0	3	3	2	3	6	4	2	1	6	4	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:142409721C>T	ENST00000258042.1	-	1	215	c.75G>A	c.(73-75)tgG>tgA	p.W25*	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	25					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AATCCCTTTCCCACCCCTCGG	0.612													10	29					0	0	0	0	T	142409721	C	T	142409721	4	4	364	1	0	0	0	0	0	1	0	0	10557	624	22	4	1109	4	NMBR	6	142409721	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4207550	142409721	28705346	710	69639											
PLAGL1	5325	broad.mit.edu	37	chr6	144262941	144262941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttgaggtgactgaggctCttgcagaggcaagtcctcaa	9	11	12	9	0	2	4	1	3	1	1	3	4	3	4	1	3	1	3	1	3	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:144262941C>T	ENST00000360537.2	-	5	2925	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	PLAGL1_ENST00000416623.1_Missense_Mutation_p.E338K|PLAGL1_ENST00000367572.1_Missense_Mutation_p.E286K|PLAGL1_ENST00000392309.1_Missense_Mutation_p.E338K|PLAGL1_ENST00000444202.1_Missense_Mutation_p.E338K|PLAGL1_ENST00000354765.2_Missense_Mutation_p.E338K|PLAGL1_ENST00000429150.1_Missense_Mutation_p.E338K|PLAGL1_ENST00000392307.1_Missense_Mutation_p.E286K|PLAGL1_ENST00000437412.1_Missense_Mutation_p.E286K|PLAGL1_ENST00000367571.1_Missense_Mutation_p.E338K			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	338					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GACTGAGGCTCTTGCAGAGGC	0.483											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	62					0	0	0	0	T	144262941	C	T	144262941	3	4	364	1	0	0	0	0	1	0	0	0	12091	922	32	2	383	2	PLAGL1	6	144262941	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1853220	144262941	26852126	711	69640											
GRM1	2911	broad.mit.edu	37	chr6	146755382	146755382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaaccagccctccccaaggGcttgccccctcctctccagc	6	6	7	22	1	1	0	0	0	1	0	4	1	3	0	8	1	4	1	8	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:146755382G>A	ENST00000361719.2	+	9	3505	c.3035G>A	c.(3034-3036)gGc>gAc	p.G1012D	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.G1012D|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1012					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTCCCCAAGGGCTTGCCCCCT	0.667													26	105					0	0	0	0	A	146755382	G	A	146755382	3	1	364	1	0	0	0	0	1	0	0	0	6846	1203	42	4	3130	4	GRM1	6	146755382	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2492441	146755382	24359685	712	69641											
STXBP5	134957	broad.mit.edu	37	chr6	147635423	147635423	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcccatcaacggaggtaaTtggggcttgggtgctcaaag	9	9	15	8	1	2	0	2	0	0	0	2	1	2	1	1	6	2	3	1	6	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:147635423T>A	ENST00000367481.3	+	13	1425	c.1317T>A	c.(1315-1317)aaT>aaA	p.N439K	STXBP5_ENST00000367480.3_Missense_Mutation_p.N439K|STXBP5_ENST00000321680.6_Missense_Mutation_p.N439K|STXBP5_ENST00000179882.6_Missense_Mutation_p.N110K	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	439					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ACGGAGGTAATTGGGGCTTGG	0.373													41	132					0	0	0	0	A	147635423	T	A	147635423	3	1	364	1	0	0	0	0	1	0	0	0	15446	1490	52	5	1367	5	STXBP5	6	147635423	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	880041	147635423	23479644	713	69642											
LRP11	84918	broad.mit.edu	37	chr6	150164231	150164231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taggttccctcctgtaggtgGgacagcttcagggttcctga	6	12	13	10	0	1	1	1	1	0	0	4	2	4	2	3	4	1	4	3	4	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:150164231G>A	ENST00000239367.2	-	3	806	c.801C>T	c.(799-801)tcC>tcT	p.S267S	LRP11_ENST00000367368.2_Silent_p.S267S|LRP11_ENST00000546019.1_Silent_p.S12S	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	267	PKD.					integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CCTGTAGGTGGGACAGCTTCA	0.592													12	28					0	0	0	0	A	150164231	G	A	150164231	2	1	364	1	0	0	0	0	0	0	0	1	9017	1219	43	4		4	LRP11	6	150164231	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2528808	150164231	20950836	714	69643											
ULBP2	80328	broad.mit.edu	37	chr6	150267511	150267511	+	Missense_Mutation	SNP	C	C	T																															ctctctgatgggggcagaacCcctcaccctgcaggcaagga																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:150267511C>T	ENST00000367351.3	+	3	426	c.353C>T	c.(352-354)cCc>cTc	p.P118L		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	118	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GGGGCAGAACCCCTCACCCTG	0.507													13	74					0	0	0	0	T	150267511	C	T	150267511	3	4	364	1	0	0	0	0	1	0	0	0	17069	623	22	4	363	4	ULBP2	6	150267511	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	103280	150267511	20847556	715	69644	884	2									
ULBP2	80328	broad.mit.edu	37	chr6	150267512	150267512	+	Silent	SNP	C	C	T																															tctctgatgggggcagaaccCctcaccctgcaggcaaggat																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:150267512C>T	ENST00000367351.3	+	3	427	c.354C>T	c.(352-354)ccC>ccT	p.P118P		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	118	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GGGCAGAACCCCTCACCCTGC	0.512													13	73					0	0	0	0	T	150267512	C	T	150267512	2	4	364	1	0	0	0	0	0	0	0	1	17069	610	22	4		4	ULBP2	6	150267512	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	150267512	20847555	716	69645	884	2									
PLEKHG1	57480	broad.mit.edu	37	chr6	151130814	151130814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcaagacaaacgcctctggGttctgcacctaaagagactg	13	7	10	11	1	2	2	0	0	2	2	2	3	2	2	2	1	3	3	2	1	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:151130814G>A	ENST00000367328.1	+	11	1534	c.1222G>A	c.(1222-1224)Gtt>Att	p.V408I	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.V408I	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	408	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACGCCTCTGGGTTCTGCACCT	0.493													9	40					0	0	0	0	A	151130814	G	A	151130814	3	1	364	1	0	0	0	0	1	0	0	0	12140	1261	44	4	1256	4	PLEKHG1	6	151130814	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	863302	151130814	19984253	717	69646											
PLEKHG1	57480	broad.mit.edu	37	chr6	151151947	151151947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgttcgtgccgtcattttCctcctcagatctgaactcta	7	15	7	12	2	4	2	2	1	2	1	7	3	6	2	3	0	2	1	3	0	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:151151947C>T	ENST00000367328.1	+	16	2012	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.S567F	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	567					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCGTCATTTTCCTCCTCAGAT	0.517													32	68					0	0	0	0	T	151151947	C	T	151151947	3	4	364	1	0	0	0	0	1	0	0	0	12140	855	30	2	1754	2	PLEKHG1	6	151151947	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	21133	151151947	19963120	718	69647											
C6orf211	79624	broad.mit.edu	37	chr6	151779649	151779649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcaagatggttctactcaCcgtggttgttggtagaatgt	10	14	11	6	1	3	2	2	0	1	2	3	2	3	2	1	3	1	4	1	3	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:151779649C>T	ENST00000367294.3	+	3	593	c.334C>T	c.(334-336)Ccg>Tcg	p.P112S	C6orf211_ENST00000483931.1_3'UTR|C6orf211_ENST00000545879.1_5'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	112							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GTTCTACTCACCGTGGTTGTT	0.328													27	31					0	0	0	0	T	151779649	C	T	151779649	3	4	364	1	0	0	0	0	1	0	0	0	2375	507	18	4	344	4	C6orf211	6	151779649	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	627702	151779649	19335418	719	69648											
TIAM2	26230	broad.mit.edu	37	chr6	155486520	155486520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactggccagaaaaggcaagGagaagagaccttctataact	16	6	10	9	0	1	3	0	0	1	3	1	5	1	3	2	3	1	1	2	3	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:155486520G>A	ENST00000461783.3	+	11	3611	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	TIAM2_ENST00000456144.1_Missense_Mutation_p.E780K|TIAM2_ENST00000360366.4_Missense_Mutation_p.E780K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E92K|TIAM2_ENST00000367174.2_Missense_Mutation_p.E132K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E780K|TIAM2_ENST00000528391.2_Missense_Mutation_p.E92K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E780K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	780					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAAAGGCAAGGAGAAGAGACC	0.463													20	78					0	0	0	0	A	155486520	G	A	155486520	3	1	364	1	0	0	0	0	1	0	0	0	15985	1175	41	2	2360	2	TIAM2	6	155486520	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3706871	155486520	15628547	720	69649											
TFB1M	51106	broad.mit.edu	37	chr6	155618126	155618126	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcaaagtcatctgagtTctgccataaacaaaaggtcc	16	9	7	9	0	4	1	2	1	2	0	5	1	5	1	2	1	2	1	2	1	6	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:155618126T>C	ENST00000367166.4	-	4	562	c.507A>G	c.(505-507)agA>agG	p.R169R		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TCATCTGAGTTCTGCCATAAA	0.323													16	29					0	0	0	0	C	155618126	T	C	155618126	2	2	364	1	0	0	0	0	0	0	0	1	15887	1780	62	5		5	TFB1M	6	155618126	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	131606	155618126	15496941	721	69650											
ARID1B	57492	broad.mit.edu	37	chr6	157405953	157405953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcatctctccagcatccCggggggcccatctccctctc	4	9	7	21	1	4	0	1	0	3	0	9	0	6	0	5	3	1	1	5	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:157405953C>T	ENST00000346085.5	+	6	2196	c.2195C>T	c.(2194-2196)cCg>cTg	p.P732L	ARID1B_ENST00000367148.1_Missense_Mutation_p.P719L|ARID1B_ENST00000350026.5_Missense_Mutation_p.P719L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P661L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	719	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCAGCATCCCGGGGGGCCCA	0.597													9	77					0	0	0	0	T	157405953	C	T	157405953	3	4	364	1	0	0	0	0	1	0	0	0	916	652	23	1	2217	1	ARID1B	6	157405953	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1787827	157405953	13709114	722	69651											
SERAC1	84947	broad.mit.edu	37	chr6	158538839	158538839	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcggagagcaggacagtcTtttgctaaccatgtctaagt	11	12	10	8	1	2	1	0	0	2	1	3	3	2	2	1	2	3	2	1	2	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:158538839T>C	ENST00000367102.2	-	13	1464	c.1323A>G	c.(1321-1323)aaA>aaG	p.K441K	SERAC1_ENST00000367104.3_Silent_p.K441K|SERAC1_ENST00000367101.1_Silent_p.K441K			Q96JX3	SRAC1_HUMAN	serine active site containing 1	441					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CAGGACAGTCTTTTGCTAACC	0.403													20	80					0	0	0	0	C	158538839	T	C	158538839	2	2	364	1	0	0	0	0	0	0	0	1	14161	1606	56	5		5	SERAC1	6	158538839	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1132886	158538839	12576228	723	69652											
TULP4	56995	broad.mit.edu	37	chr6	158922890	158922890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaccagacgacagctgtagGgacagcagaacatgcaggtg	14	4	13	10	1	0	2	0	0	0	2	0	4	0	3	1	2	5	4	1	2	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:158922890G>C	ENST00000367097.3	+	13	3552	c.2195G>C	c.(2194-2196)gGg>gCg	p.G732A	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	732					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACAGCTGTAGGGACAGCAGAA	0.572													22	106					0	0	0	0	C	158922890	G	C	158922890	3	2	364	1	0	0	0	0	1	0	0	0	16872	1232	43	4	2245	4	TULP4	6	158922890	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	384051	158922890	12192177	724	69653											
SYTL3	94120	broad.mit.edu	37	chr6	159184341	159184341	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttccctcttcagctgtcTcactctgccagaccaacaaa	9	11	6	15	0	4	1	2	0	3	1	6	1	5	1	3	0	3	2	3	0	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:159184341T>A	ENST00000297239.9	+	16	1717	c.1523T>A	c.(1522-1524)cTc>cAc	p.L508H	SYTL3_ENST00000367081.3_Missense_Mutation_p.L234H|SYTL3_ENST00000360448.3_Missense_Mutation_p.L440H			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	508	C2 2.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTCAGCTGTCTCACTCTGCCA	0.532													6	34					0	0	0	0	A	159184341	T	A	159184341	3	1	364	1	0	0	0	0	1	0	0	0	15575	1551	54	5	1365	5	SYTL3	6	159184341	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	261451	159184341	11930726	725	69654											
SLC22A2	6582	broad.mit.edu	37	chr6	160679479	160679479	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctggccagggggtccAcgcagtcgaaggtgctctgg	6	6	17	12	2	1	0	0	0	1	0	3	1	2	0	3	6	1	3	3	6	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:160679479A>C	ENST00000366952.1	-	3	1729	c.248T>G	c.(247-249)gTg>gGg	p.V83G	SLC22A2_ENST00000366953.3_Missense_Mutation_p.V104G|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	104					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CAGGGGGTCCACGCAGTCGAA	0.682													16	65					0	0	0	0	C	160679479	A	C	160679479	3	2	364	1	0	0	0	0	1	0	0	0	14539	159	6	5	1400	5	SLC22A2	6	160679479	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	1495138	160679479	10435588	726	69655											
LPA	4018	broad.mit.edu	37	chr6	161071470	161071470	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtggtggagtacgtgcctcGataactctgtccatcaccat	9	11	10	11	2	2	0	1	0	1	0	4	2	3	1	3	2	3	1	3	2	2	2	rs121912503		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:161071470G>A	ENST00000447678.1	-	3	229	c.109C>T	c.(109-111)Cga>Tga	p.R37*	LPA_ENST00000316300.5_Nonsense_Mutation_p.R37*	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	2545	Kringle 1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TACGTGCCTCGATAACTCTGT	0.453													52	225					0	0	0	0	A	161071470	G	A	161071470	4	1	364	1	0	0	0	0	0	1	0	0	8967	1066	37	1	6165	1	LPA	6	161071470	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	391991	161071470	10043597	727	69656											
RPS6KA2	6196	broad.mit.edu	37	chr6	166921708	166921708	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctctttggagagccgggTgaagaggtcccctccccgca	7	7	12	15	2	1	3	0	1	1	2	3	4	3	3	6	3	1	1	6	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:166921708T>G	ENST00000510118.1	-	7	857	c.517A>C	c.(517-519)Acc>Ccc	p.T173P	RPS6KA2_ENST00000265678.4_Missense_Mutation_p.T148P|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.T59P|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.T59P|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T156P|RPS6KA2_ENST00000366863.2_5'UTR			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	148	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GAGAGCCGGGTGAAGAGGTCC	0.612													6	27					0	0	0	0	G	166921708	T	G	166921708	3	3	364	1	0	0	0	0	1	0	0	0	13736	1696	59	5	1827	5	RPS6KA2	6	166921708	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	5850238	166921708	4193359	728	69657											
SMOC2	64094	broad.mit.edu	37	chr6	169053673	169053673	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccataccctagaggagcgGgtggtgcactggtacttcaa	10	8	13	10	1	1	1	1	0	0	1	1	2	1	2	2	4	5	2	2	4	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:169053673G>A	ENST00000354536.5	+	11	1303	c.1083G>A	c.(1081-1083)cgG>cgA	p.R361R	SMOC2_ENST00000356284.2_Silent_p.R350R	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	350	EF-hand 1.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TAGAGGAGCGGGTGGTGCACT	0.517													17	32					0	0	0	0	A	169053673	G	A	169053673	2	1	364	1	0	0	0	0	0	0	0	1	14890	1219	43	4		4	SMOC2	6	169053673	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2131965	169053673	2061394	729	69658											
WDR27	253769	broad.mit.edu	37	chr6	170088966	170088966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagttcagttccatccaaagGgaaagcacagtcctgcatgc	13	8	9	11	0	1	0	1	0	0	0	4	1	4	1	3	1	3	4	3	1	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:170088966G>A	ENST00000333572.6	-	2	655	c.136C>T	c.(136-138)Cct>Tct	p.P46S	WDR27_ENST00000420344.2_Missense_Mutation_p.P46S|WDR27_ENST00000448612.1_Missense_Mutation_p.P46S|WDR27_ENST00000423258.1_Missense_Mutation_p.P46S			A2RRH5	WDR27_HUMAN	WD repeat domain 27	46										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CCATCCAAAGGGAAAGCACAG	0.433													21	106					0	0	0	0	A	170088966	G	A	170088966	3	1	364	1	0	0	0	0	1	0	0	0	17380	1232	43	4	2533	4	WDR27	6	170088966	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1035293	170088966	1026101	730	69659											
DLL1	28514	broad.mit.edu	37	chr6	170595353	170595353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccctggtttgtcacaaaatCcatgctgctcatcacatcca	10	11	5	15	0	3	0	3	0	0	0	5	0	5	0	4	1	2	3	4	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:170595353C>T	ENST00000366756.3	-	5	1037	c.704G>A	c.(703-705)gGa>gAa	p.G235E		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	235	EGF-like 1.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GTCACAAAATCCATGCTGCTC	0.483													20	72					0	0	0	0	T	170595353	C	T	170595353	3	4	364	1	0	0	0	0	1	0	0	0	4603	855	30	2	1495	2	DLL1	6	170595353	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	506387	170595353	519714	731	69660											
UNCX	340260	broad.mit.edu	37	chr7	1275522	1275522	+	Missense_Mutation	SNP	G	G	A																															agaaggagaacacgaaaaagGgcccggggcggccggcgcac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:1275522G>A	ENST00000316333.8	+	3	616	c.505G>A	c.(505-507)Ggc>Agc	p.G169S		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	169					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CACGAAAAAGGGCCCGGGGCG	0.652													13	40					0	0	0	0	A	1275522	G	A	1275522	3	1	364	1	0	0	0	0	1	0	0	0	17094	1232	43	4	515	4	UNCX	7	1275522	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08		1275522	157863141	732	69661	885	2									
UNCX	340260	broad.mit.edu	37	chr7	1275523	1275523	+	Missense_Mutation	SNP	G	G	A																															gaaggagaacacgaaaaaggGcccggggcggccggcgcaca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:1275523G>A	ENST00000316333.8	+	3	617	c.506G>A	c.(505-507)gGc>gAc	p.G169D		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	169					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		ACGAAAAAGGGCCCGGGGCGG	0.652													13	40					0	0	0	0	A	1275523	G	A	1275523	3	1	364	1	0	0	0	0	1	0	0	0	17094	1203	42	4	516	4	UNCX	7	1275523	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	1275523	157863140	733	69662	885	2									
LFNG	3955	broad.mit.edu	37	chr7	2559921	2559921	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggatctcgcgccacaaGgagatggtgagccccccgcg	8	5	13	15	4	1	2	0	1	1	1	2	4	1	3	5	3	1	0	5	3	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:2559921G>A	ENST00000222725.5	+	1	446	c.426G>A	c.(424-426)aaG>aaA	p.K142K	LFNG_ENST00000402506.1_Intron|LFNG_ENST00000359574.3_Silent_p.K142K|LFNG_ENST00000402045.1_Intron|LFNG_ENST00000338732.3_Intron	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	142					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CGCGCCACAAGGAGATGGTGA	0.682													12	43					0	0	0	0	A	2559921	G	A	2559921	2	1	364	1	0	0	0	0	0	0	0	1	8790	991	35	4		4	LFNG	7	2559921	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1284398	2559921	156578742	734	69663											
IQCE	23288	broad.mit.edu	37	chr7	2645612	2645612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccgctctgcgggcacacCtggcccgggccaggcacagg	6	4	15	16	3	1	0	0	0	1	0	2	0	2	0	4	5	1	3	4	5	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:2645612C>T	ENST00000402050.2	+	20	2030	c.1846C>T	c.(1846-1848)Ctg>Ttg	p.L616L	IQCE_ENST00000438376.2_Silent_p.L600L|IQCE_ENST00000325979.7_Silent_p.L551L|IQCE_ENST00000404984.1_Silent_p.L565L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	616	IQ 2.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCGGGCACACCTGGCCCGGGC	0.706													4	47					0	0	0	0	T	2645612	C	T	2645612	2	4	364	1	0	0	0	0	0	0	0	1	7859	680	24	4		4	IQCE	7	2645612	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	85691	2645612	156493051	735	69664											
SDK1	221935	broad.mit.edu	37	chr7	4153028	4153028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggctccaaccagcgtcaCggtccgtactgccagtgaga	8	7	12	14	4	1	1	1	1	0	1	3	2	3	1	4	2	4	2	4	2	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4153028C>T	ENST00000404826.2	+	24	3681	c.3542C>T	c.(3541-3543)aCg>aTg	p.T1181M	SDK1_ENST00000389531.3_Missense_Mutation_p.T1181M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1181	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.T1181M(3)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCAGCGTCACGGTCCGTACT	0.647													26	193					0	0	0	0	T	4153028	C	T	4153028	3	4	364	1	0	0	0	0	1	0	0	0	14055	536	19	1	3636	1	SDK1	7	4153028	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1507416	4153028	154985635	736	69665											
SDK1	221935	broad.mit.edu	37	chr7	4272892	4272892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatccctcttgcagatgaaGgcttatgggacatgtttgtg	8	13	11	9	0	1	2	0	1	1	1	2	3	2	3	2	2	1	3	2	2	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4272892G>A	ENST00000404826.2	+	41	5972	c.5833G>A	c.(5833-5835)Ggc>Agc	p.G1945S	SDK1_ENST00000389531.3_Missense_Mutation_p.G1925S|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1945	Fibronectin type-III 13.				cell adhesion	integral to membrane		p.G1945C(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCAGATGAAGGCTTATGGGA	0.592													41	59					0	0	0	0	A	4272892	G	A	4272892	3	1	364	1	0	0	0	0	1	0	0	0	14055	1000	35	4	5995	4	SDK1	7	4272892	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	119864	4272892	154865771	737	69666											
RADIL	55698	broad.mit.edu	37	chr7	4874565	4874565	+	Silent	SNP	G	G	A																															gccaaggcccgggcgggcagGggctgggcctgcgcggggtc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4874565G>A	ENST00000399583.3	-	4	1276	c.1089C>T	c.(1087-1089)ccC>ccT	p.P363P	RADIL_ENST00000536091.1_Silent_p.P363P|RADIL_ENST00000538469.1_Silent_p.P123P	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	363	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGCGGGCAGGGGCTGGGCCT	0.756													4	17					0	0	0	0	A	4874565	G	A	4874565	2	1	364	1	0	0	0	0	0	0	0	1	13079	1219	43	4		4	RADIL	7	4874565	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	601673	4874565	154264098	738	69667	886	2									
RADIL	55698	broad.mit.edu	37	chr7	4874566	4874566	+	Missense_Mutation	SNP	G	G	A																															ccaaggcccgggcgggcaggGgctgggcctgcgcggggtcc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4874566G>A	ENST00000399583.3	-	4	1275	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L	RADIL_ENST00000536091.1_Missense_Mutation_p.P363L|RADIL_ENST00000538469.1_Missense_Mutation_p.P123L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	363	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGCGGGCAGGGGCTGGGCCTG	0.751													4	17					0	0	0	0	A	4874566	G	A	4874566	3	1	364	1	0	0	0	0	1	0	0	0	13079	1232	43	4	2187	4	RADIL	7	4874566	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	4874566	154264097	739	69668	886	2									
PAPOLB	56903	broad.mit.edu	37	chr7	4901389	4901389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagacgccgtagcgattcGgcggcggcgccggctgcggt	5	5	19	12	9	0	1	0	0	0	1	1	3	0	1	2	6	2	2	2	6	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4901389G>A	ENST00000404991.1	-	1	236	c.50C>T	c.(49-51)cCg>cTg	p.P17L	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	17					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GTAGCGATTCGGCGGCGGCGC	0.672													9	13					0	0	0	0	A	4901389	G	A	4901389	3	1	364	1	0	0	0	0	1	0	0	0	11501	1116	39	1	1864	1	PAPOLB	7	4901389	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	26823	4901389	154237274	740	69669											
TNRC18	84629	broad.mit.edu	37	chr7	5410575	5410575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacaaagtctggacactcaGagggctctgcgcagctctgc	9	7	11	14	1	4	1	1	0	3	1	4	2	4	2	1	2	3	3	1	2	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:5410575G>A	ENST00000399537.4	-	11	3998	c.3650C>T	c.(3649-3651)tCt>tTt	p.S1217F	TNRC18_ENST00000430969.1_Missense_Mutation_p.S1217F			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1217							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGGACACTCAGAGGGCTCTGC	0.692													11	82					0	0	0	0	A	5410575	G	A	5410575	3	1	364	1	0	0	0	0	1	0	0	0	16433	942	33	2	5336	2	TNRC18	7	5410575	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	509186	5410575	153728088	741	69670											
AIMP2	7965	broad.mit.edu	37	chr7	6063300	6063300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctggctccttttaacaCggccctcaagctccttaagt	10	11	6	14	1	1	0	1	0	0	0	3	0	3	0	4	2	3	2	4	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:6063300C>T	ENST00000223029.3	+	4	1060	c.941C>T	c.(940-942)aCg>aTg	p.T314M	AIMP2_ENST00000395236.2_Missense_Mutation_p.T245M|AIMP2_ENST00000400479.2_Missense_Mutation_p.T236M|EIF2AK1_ENST00000536084.1_3'UTR|EIF2AK1_ENST00000199389.6_3'UTR	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	314	GST C-terminal.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCTTTTAACACGGCCCTCAAG	0.468													14	76					0	0	0	0	T	6063300	C	T	6063300	3	4	364	1	0	0	0	0	1	0	0	0	434	536	19	1	955	1	AIMP2	7	6063300	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	652725	6063300	153075363	742	69671											
COL28A1	340267	broad.mit.edu	37	chr7	7516750	7516750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggtattgttacctttggtCctggaaatccttctccgggt	7	15	10	9	1	1	0	0	0	1	0	4	1	3	1	4	4	1	2	4	4	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:7516750C>T	ENST00000399429.3	-	14	1366	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	409					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TACCTTTGGTCCTGGAAATCC	0.463													44	73					0	0	0	0	T	7516750	C	T	7516750	3	4	364	1	0	0	0	0	1	0	0	0	3716	855	30	2	2239	2	COL28A1	7	7516750	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1453450	7516750	151621913	743	69672											
ICA1	3382	broad.mit.edu	37	chr7	8167554	8167554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggtctaaaagctgcgaagGaaggaaacctgagcctgtct	12	9	12	8	1	2	1	0	1	2	0	2	4	2	3	2	3	4	1	2	3	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:8167554G>A	ENST00000402384.3	-	13	1545	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S	ICA1_ENST00000406470.2_Missense_Mutation_p.P427S|ICA1_ENST00000401396.1_Missense_Mutation_p.P415S|ICA1_ENST00000265577.7_Missense_Mutation_p.P426S|ICA1_ENST00000396675.3_Missense_Mutation_p.P427S|ICA1_ENST00000422063.2_Missense_Mutation_p.P456S			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	427					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AGCTGCGAAGGAAGGAAACCT	0.517													39	214					0	0	0	0	A	8167554	G	A	8167554	3	1	364	1	0	0	0	0	1	0	0	0	7530	1174	41	2	180	2	ICA1	7	8167554	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	650804	8167554	150971109	744	69673											
THSD7A	221981	broad.mit.edu	37	chr7	11446682	11446682	+	Splice_Site	SNP	C	C	T																															ttcgtcttcggatcatttttCcttgaagagatacaaagtga																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:11446682C>T	ENST00000423059.3	-	21	4168	c.3916_splice	c.e21-1	p.G1306_splice	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1306	TSP type-1 13.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GATCATTTTTCCTTGAAGAGA	0.458										HNSCC(18;0.044)			5	46					0	0	0	0	T	11446682	C	T	11446682	5	4	364	1	0	0	0	0	0	0	1	0	15973	869	30	2	1088	2	THSD7A	7	11446682	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3279128	11446682	147691981	745	69674	887	2									
THSD7A	221981	broad.mit.edu	37	chr7	11446683	11446683	+	Splice_Site	SNP	C	C	T																															tcgtcttcggatcatttttcCttgaagagatacaaagtgat																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:11446683C>T	ENST00000423059.3	-	21	4168		c.e21-1		AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATCATTTTTCCTTGAAGAGAT	0.458										HNSCC(18;0.044)			5	45					0	0	0	0	T	11446683	C	T	11446683	5	4	364	1	0	0	0	0	0	0	1	0	15973	695	24	4	1089	4	THSD7A	7	11446683	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	11446683	147691980	746	69675	887	2									
THSD7A	221981	broad.mit.edu	37	chr7	11582619	11582619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctgatcattacagttttCataagtacaaggtccccaag	12	13	7	9	0	2	1	2	1	0	0	3	1	3	1	2	1	3	3	2	1	5	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:11582619C>T	ENST00000423059.3	-	5	1830	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	527	TSP type-1 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTACAGTTTTCATAAGTACAA	0.393										HNSCC(18;0.044)			23	48					0	0	0	0	T	11582619	C	T	11582619	3	4	364	1	0	0	0	0	1	0	0	0	15973	835	29	2	3486	2	THSD7A	7	11582619	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	135936	11582619	147556044	747	69676											
HDAC9	9734	broad.mit.edu	37	chr7	18688107	18688107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggagttcccttacatcCtcagtctcccttggcaacaa	9	11	8	13	0	2	0	1	0	1	0	5	1	4	1	3	3	2	2	3	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:18688107C>T	ENST00000406451.3	+	11	1409	c.1259C>T	c.(1258-1260)cCt>cTt	p.P420L	HDAC9_ENST00000405010.3_Missense_Mutation_p.P420L|HDAC9_ENST00000432645.2_Missense_Mutation_p.P420L|HDAC9_ENST00000524023.1_Missense_Mutation_p.P343L|HDAC9_ENST00000406072.1_Missense_Mutation_p.P407L|HDAC9_ENST00000401921.1_Missense_Mutation_p.P379L|HDAC9_ENST00000428307.2_Missense_Mutation_p.P376L|HDAC9_ENST00000417496.2_Missense_Mutation_p.P418L|HDAC9_ENST00000441542.2_Missense_Mutation_p.P423L|HDAC9_ENST00000456174.2_Missense_Mutation_p.P392L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	420					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCTTACATCCTCAGTCTCCC	0.438													11	78					0	0	0	0	T	18688107	C	T	18688107	3	4	364	1	0	0	0	0	1	0	0	0	7064	681	24	4	1306	4	HDAC9	7	18688107	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	7105488	18688107	140450556	748	69677											
ABCB5	340273	broad.mit.edu	37	chr7	20685402	20685402	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctcattgaccagtaaGgaattaagtgcctattccaa	13	12	7	9	0	2	1	2	1	1	0	4	2	3	2	3	1	1	1	3	1	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:20685402G>A	ENST00000404938.2	+	8	1354	c.702G>A	c.(700-702)aaG>aaA	p.K234K		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	420					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGACCAGTAAGGAATTAAGTG	0.403													30	136					0	0	0	0	A	20685402	G	A	20685402	2	1	364	1	0	0	0	0	0	0	0	1	44	991	35	4		4	ABCB5	7	20685402	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1997295	20685402	138453261	749	69678											
DNAH11	8701	broad.mit.edu	37	chr7	21627720	21627720	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttctagagaagccagtTgtcatggaaattttcagcct	12	14	8	7	0	3	1	2	0	1	1	3	3	3	2	2	1	2	1	2	1	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:21627720T>G	ENST00000328843.6	+	10	1780	c.1749T>G	c.(1747-1749)gtT>gtG	p.V583V	DNAH11_ENST00000409508.3_Silent_p.V583V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	583	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAGCCAGTTGTCATGGAAA	0.348									Kartagener syndrome				10	63					0	0	0	0	G	21627720	T	G	21627720	2	3	364	1	0	0	0	0	0	0	0	1	4636	1799	63	5		5	DNAH11	7	21627720	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	942318	21627720	137510943	750	69679											
DNAH11	8701	broad.mit.edu	37	chr7	21639524	21639524	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataatgcacgacttagacttCtttctgaagaatacagagaa	16	11	7	7	1	2	4	0	1	2	3	2	6	2	4	0	0	2	1	0	0	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:21639524C>T	ENST00000328843.6	+	15	2818	c.2787C>T	c.(2785-2787)ttC>ttT	p.F929F	DNAH11_ENST00000409508.3_Silent_p.F929F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	929	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTTAGACTTCTTTCTGAAGA	0.398									Kartagener syndrome				8	38					0	0	0	0	T	21639524	C	T	21639524	2	4	364	1	0	0	0	0	0	0	0	1	4636	912	32	2		2	DNAH11	7	21639524	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	11804	21639524	137499139	751	69680											
DNAH11	8701	broad.mit.edu	37	chr7	21744165	21744165	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccctggatgtgccccggagGaggaagctgcactttgaaca	9	7	14	11	1	0	1	0	1	0	0	0	5	0	5	3	4	4	2	3	4	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:21744165G>A	ENST00000328843.6	+	39	6439	c.6408G>A	c.(6406-6408)agG>agA	p.R2136R	DNAH11_ENST00000409508.3_Silent_p.R2129R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2136					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGCCCCGGAGGAGGAAGCTGC	0.522									Kartagener syndrome				7	52					0	0	0	0	A	21744165	G	A	21744165	2	1	364	1	0	0	0	0	0	0	0	1	4636	1165	41	2		2	DNAH11	7	21744165	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	104641	21744165	137394498	752	69681											
IGF2BP3	10643	broad.mit.edu	37	chr7	23391088	23391088	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggagcccctctgcccaagCccccggcgacctcggggctg	5	4	14	18	3	1	0	0	0	1	0	2	3	1	1	6	4	3	1	6	4	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:23391088C>T	ENST00000258729.3	-	6	875	c.519G>A	c.(517-519)ggG>ggA	p.G173G	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	173					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TCTGCCCAAGCCCCCGGCGAC	0.557													14	49					0	0	0	0	T	23391088	C	T	23391088	2	4	364	1	0	0	0	0	0	0	0	1	7628	726	26	4		4	IGF2BP3	7	23391088	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1646923	23391088	135747575	753	69682											
NPVF	64111	broad.mit.edu	37	chr7	25268016	25268016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaacaagcttgaagtggCtaaagtcaataaaatgaata	18	11	8	4	0	1	2	1	2	0	0	1	2	1	2	0	1	2	3	0	1	10	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:25268016C>A	ENST00000222674.2	-	1	89	c.43G>T	c.(43-45)Gcc>Tcc	p.A15S		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	15					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTTGAAGTGGCTAAAGTCAAT	0.303													13	56					2.27111e-07	2.3095e-07	1	0	A	25268016	C	A	25268016	3	1	364	1	0	0	0	0	1	0	0	0	10676	797	28	4	559	4	NPVF	7	25268016	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1876928	25268016	133870647	754	69683											
HOXA3	3200	broad.mit.edu	37	chr7	27148004	27148004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggcgactggggctcatacgGgacgctgttgaccagcgaat	8	7	16	10	4	1	1	1	1	0	0	1	4	1	2	1	4	2	3	1	4	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:27148004G>A	ENST00000396352.4	-	3	1061	c.862C>T	c.(862-864)Ccg>Tcg	p.P288S	HOXA3_ENST00000317201.2_Missense_Mutation_p.P288S|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	288					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GGCTCATACGGGACGCTGTTG	0.687													14	66					0	0	0	0	A	27148004	G	A	27148004	3	1	364	1	0	0	0	0	1	0	0	0	7343	1232	43	4	473	4	HOXA3	7	27148004	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1879988	27148004	131990659	755	69684											
CHN2	1124	broad.mit.edu	37	chr7	29544359	29544359	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctctctctctctaacaGgattaaaatcggaaggcctt	10	13	6	12	1	4	0	0	0	4	0	8	2	4	2	1	3	1	0	1	3	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:29544359G>A	ENST00000222792.6	+	10	1443		c.e10-1		CHN2_ENST00000424025.2_Splice_Site|CHN2_ENST00000546235.1_Splice_Site|CHN2_ENST00000421775.2_Splice_Site|CHN2_ENST00000439711.2_Splice_Site|CHN2_ENST00000539389.1_Splice_Site|CHN2_ENST00000495789.2_Splice_Site|CHN2_ENST00000410098.1_Splice_Site|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539406.1_Splice_Site|CHN2_ENST00000409041.4_Splice_Site	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CTCTCTAACAGGATTAAAATC	0.353													10	53					0	0	0	0	A	29544359	G	A	29544359	5	1	364	1	0	0	0	0	0	0	1	0	3392	1014	35	4	1119	4	CHN2	7	29544359	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2396355	29544359	129594304	756	69685											
FKBP14	55033	broad.mit.edu	37	chr7	30066080	30066080	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaaagccccaatcaaagaAgtgacgaacagagtcaagac	19	4	8	10	1	3	4	3	1	0	3	3	5	3	4	2	0	2	0	2	0	6	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:30066080A>T	ENST00000222803.5	-	1	220	c.45T>A	c.(43-45)acT>acA	p.T15T		NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	15					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						CAATCAAAGAAGTGACGAACA	0.473													32	62					0	0	0	0	T	30066080	A	T	30066080	2	4	364	1	0	0	0	0	0	0	0	1	5949	59	3	5		5	FKBP14	7	30066080	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	521721	30066080	129072583	757	69686											
NOD1	10392	broad.mit.edu	37	chr7	30491316	30491316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagaggtcttcccgcgccgGaccactgccctgcaggcact	7	6	12	16	3	1	1	0	0	1	1	2	3	2	2	4	3	2	2	4	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:30491316G>A	ENST00000222823.4	-	6	2242	c.1717C>T	c.(1717-1719)Ccg>Tcg	p.P573S		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	573					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCCCGCGCCGGACCACTGCCC	0.607													13	65					0	0	0	0	A	30491316	G	A	30491316	3	1	364	1	0	0	0	0	1	0	0	0	10586	1174	41	2	1180	2	NOD1	7	30491316	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	425236	30491316	128647347	758	69687											
FKBP9	11328	broad.mit.edu	37	chr7	33039805	33039805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggacatgggtctcagagaGatgtgcgttggcgagaaacg	11	8	16	6	3	1	3	1	0	1	3	2	6	1	4	0	3	2	1	0	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:33039805G>A	ENST00000242209.4	+	8	1474	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	FKBP9_ENST00000538336.1_Silent_p.E488E|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Silent_p.E297E|FKBP9_ENST00000490776.2_Silent_p.E203E	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	435	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GTCTCAGAGAGATGTGCGTTG	0.502													19	105					0	0	0	0	A	33039805	G	A	33039805	2	1	364	1	0	0	0	0	0	0	0	1	5960	933	33	2		2	FKBP9	7	33039805	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2548489	33039805	126098858	759	69688											
BBS9	27241	broad.mit.edu	37	chr7	33376101	33376101	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgatggtcacttgcaGtgttcatacctggggacaga	10	11	13	7	0	2	3	2	2	0	1	2	4	2	4	1	3	2	2	1	3	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:33376101G>A	ENST00000242067.6	+	10	1586	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q	BBS9_ENST00000350941.3_Silent_p.Q355Q|BBS9_ENST00000355070.2_Silent_p.Q355Q|BBS9_ENST00000354265.4_Silent_p.Q355Q|BBS9_ENST00000396127.2_Silent_p.Q355Q	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	355					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.Q355H(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTCACTTGCAGTGTTCATACC	0.373									Bardet-Biedl syndrome				12	42					0	0	0	0	A	33376101	G	A	33376101	2	1	364	1	0	0	0	0	0	0	0	1	1346	1020	36	4		4	BBS9	7	33376101	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	336296	33376101	125762562	760	69689											
AOAH	313	broad.mit.edu	37	chr7	36580098	36580098	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggactgggtcactcttcCtgttggtggaataaacagaa	10	11	12	8	0	2	1	1	0	1	1	3	3	3	3	1	4	1	1	1	4	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:36580098C>T	ENST00000431169.1	-	16	1434		c.e16-1		AOAH_ENST00000538464.1_Splice_Site|AOAH_ENST00000258749.5_Splice_Site|AOAH_ENST00000491444.1_Splice_Site|AOAH_ENST00000535891.1_Splice_Site	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)						inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GTCACTCTTCCTGTTGGTGGA	0.458													20	97					0	0	0	0	T	36580098	C	T	36580098	5	4	364	1	0	0	0	0	0	0	1	0	727	695	24	4	959	4	AOAH	7	36580098	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3203997	36580098	122558565	761	69690											
SFRP4	6424	broad.mit.edu	37	chr7	37947224	37947224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccggctgttttcttcttgtCctgaactgttctccgctgtt	2	18	8	13	2	3	1	0	1	3	0	5	1	4	1	3	1	1	5	3	1	1	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:37947224C>T	ENST00000436072.2	-	6	1275	c.898G>A	c.(898-900)Gac>Aac	p.D300N	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	300	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTCTTCTTGTCCTGAACTGTT	0.493													17	76					0	0	0	0	T	37947224	C	T	37947224	3	4	364	1	0	0	0	0	1	0	0	0	14250	855	30	2	146	2	SFRP4	7	37947224	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1367126	37947224	121191439	762	69691											
CDK13	8621	broad.mit.edu	37	chr7	40027827	40027827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accaccgttacctttgcctcCcatgctgcctgaagataaag	10	10	7	14	1	0	2	0	1	0	1	1	2	1	2	6	0	4	2	6	0	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:40027827C>T	ENST00000181839.4	+	2	2446	c.1841C>T	c.(1840-1842)cCc>cTc	p.P614L	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.P614L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	614					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CCTTTGCCTCCCATGCTGCCT	0.398													22	82					0	0	0	0	T	40027827	C	T	40027827	3	4	364	1	0	0	0	0	1	0	0	0	3158	623	22	4	1847	4	CDK13	7	40027827	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2080603	40027827	119110836	763	69692											
CDK13	8621	broad.mit.edu	37	chr7	40127730	40127730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttttttttcagtctccCtttatggcaagattgtcatg	6	21	6	8	0	3	1	2	0	1	1	4	1	3	1	1	1	0	1	1	1	2	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:40127730C>T	ENST00000181839.4	+	12	3640	c.3035C>T	c.(3034-3036)cCt>cTt	p.P1012L	CDK13_ENST00000340829.5_Missense_Mutation_p.P1012L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1012					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTCAGTCTCCCTTTATGGCAA	0.373													10	37					0	0	0	0	T	40127730	C	T	40127730	3	4	364	1	0	0	0	0	1	0	0	0	3158	681	24	4	3081	4	CDK13	7	40127730	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	99903	40127730	119010933	764	69693											
HECW1	23072	broad.mit.edu	37	chr7	43484379	43484379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaagcaggccctgctcCttgcctgtgtccgagctgga	9	8	12	12	1	0	1	0	0	0	1	2	3	2	2	4	2	4	3	4	2	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:43484379C>T	ENST00000395891.1	+	11	2213	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	HECW1_ENST00000453890.1_Silent_p.S536S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	536					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCCCTGCTCCTTGCCTGTGT	0.647													4	29					0	0	0	0	T	43484379	C	T	43484379	2	4	364	1	0	0	0	0	0	0	0	1	7092	668	24	4		4	HECW1	7	43484379	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3356649	43484379	115654284	765	69694											
HECW1	23072	broad.mit.edu	37	chr7	43484409	43484409	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgagctggagacggtgatCgcgtcagcctgcggggaccc	6	6	16	13	5	1	2	1	1	0	1	3	5	2	3	3	4	3	1	3	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:43484409C>T	ENST00000395891.1	+	11	2243	c.1638C>T	c.(1636-1638)atC>atT	p.I546I	HECW1_ENST00000453890.1_Silent_p.I546I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	546					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.I525I(1)|p.I546I(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGACGGTGATCGCGTCAGCCT	0.687													5	50					0	0	0	0	T	43484409	C	T	43484409	2	4	364	1	0	0	0	0	0	0	0	1	7092	874	31	1		1	HECW1	7	43484409	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	30	43484409	115654254	766	69695											
BLVRA	644	broad.mit.edu	37	chr7	43832321	43832321	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtttaccaaaggcagttcCttaatgctggcaagcacgtc	10	11	9	11	2	0	0	0	0	0	0	3	0	1	0	2	2	3	6	2	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:43832321C>G	ENST00000402924.1	+	6	425	c.262C>G	c.(262-264)Ctt>Gtt	p.L88V	BLVRA_ENST00000265523.4_Missense_Mutation_p.L88V	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	88					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	AAGGCAGTTCCTTAATGCTGG	0.453													12	27					0	0	0	0	G	43832321	C	G	43832321	3	3	364	1	0	0	0	0	1	0	0	0	1456	681	24	4	276	4	BLVRA	7	43832321	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	347912	43832321	115306342	767	69696											
NPC1L1	29881	broad.mit.edu	37	chr7	44579040	44579040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaggctggtgcccttcttgGggtccaccatcttgcttttg	4	14	12	11	0	2	1	0	0	2	1	3	1	3	1	3	4	2	2	3	4	0	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44579040G>A	ENST00000289547.4	-	2	1011	c.956C>T	c.(955-957)cCc>cTc	p.P319L	NPC1L1_ENST00000381160.3_Missense_Mutation_p.P319L|NPC1L1_ENST00000423141.1_Missense_Mutation_p.P319L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P319L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	319					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCCCTTCTTGGGGTCCACCAT	0.607													32	81					0	0	0	0	A	44579040	G	A	44579040	3	1	364	1	0	0	0	0	1	0	0	0	10641	1232	43	4	3199	4	NPC1L1	7	44579040	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	746719	44579040	114559623	768	69697											
OGDH	4967	broad.mit.edu	37	chr7	44741144	44741144	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattgttctgtatttcagttAattatcttcacccccaaatc	10	18	3	10	0	4	0	2	0	2	0	5	0	4	0	2	0	0	3	2	0	5	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44741144A>C	ENST00000222673.5	+	20	2604	c.2562A>C	c.(2560-2562)ttA>ttC	p.L854F	OGDH_ENST00000543843.1_Missense_Mutation_p.L805F|OGDH_ENST00000439616.2_Missense_Mutation_p.L704F|OGDH_ENST00000447398.1_Missense_Mutation_p.L865F|OGDH_ENST00000449767.1_Missense_Mutation_p.L850F|OGDH_ENST00000444676.1_Missense_Mutation_p.L869F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	854					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TATTTCAGTTAATTATCTTCA	0.498													21	34					0	0	0	0	C	44741144	A	C	44741144	3	2	364	1	0	0	0	0	1	0	0	0	10910	359	13	5	2809	5	OGDH	7	44741144	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	162104	44741144	114397519	769	69698											
ZMIZ2	83637	broad.mit.edu	37	chr7	44804988	44804988	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctggaagccagtgccCgtgaagcctgacatgcacat	10	7	12	12	1	0	2	0	2	0	0	0	3	0	3	3	1	6	3	3	1	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44804988C>T	ENST00000309315.4	+	16	2175	c.2052C>T	c.(2050-2052)ccC>ccT	p.P684P	ZMIZ2_ENST00000413916.1_Silent_p.P626P|ZMIZ2_ENST00000441627.1_Silent_p.P684P|ZMIZ2_ENST00000433667.1_Silent_p.P652P|ZMIZ2_ENST00000265346.7_Silent_p.P658P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	684					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCAGTGCCCGTGAAGCCTG	0.642													14	37					0	0	0	0	T	44804988	C	T	44804988	2	4	364	1	0	0	0	0	0	0	0	1	17792	639	23	1		1	ZMIZ2	7	44804988	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	63844	44804988	114333675	770	69699											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805102	44805102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgatggagatgatcgccgcCctgggccccggcgctgcccc	4	6	15	16	4	0	3	0	2	0	1	1	4	0	3	6	3	1	1	6	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44805102C>T	ENST00000309315.4	+	16	2289	c.2166C>T	c.(2164-2166)gcC>gcT	p.A722A	ZMIZ2_ENST00000413916.1_Silent_p.A664A|ZMIZ2_ENST00000441627.1_Silent_p.A722A|ZMIZ2_ENST00000433667.1_Silent_p.A690A|ZMIZ2_ENST00000265346.7_Silent_p.A696A	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	722					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGATCGCCGCCCTGGGCCCCG	0.692													10	22					0	0	0	0	T	44805102	C	T	44805102	2	4	364	1	0	0	0	0	0	0	0	1	17792	610	22	4		4	ZMIZ2	7	44805102	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	114	44805102	114333561	771	69700											
MYO1G	64005	broad.mit.edu	37	chr7	45004019	45004019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccttgtctaaccttgcGgacatggcttgaaaagagca	10	11	10	10	1	1	2	0	1	1	1	2	3	2	3	2	2	3	2	2	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:45004019G>A	ENST00000258787.7	-	19	2762	c.2626C>T	c.(2626-2628)Cgc>Tgc	p.R876C		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	876						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTAACCTTGCGGACATGGCTT	0.527													19	59					0	0	0	0	A	45004019	G	A	45004019	3	1	364	1	0	0	0	0	1	0	0	0	10144	1116	39	1	446	1	MYO1G	7	45004019	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	198917	45004019	114134644	772	69701											
ADCY1	107	broad.mit.edu	37	chr7	45650062	45650062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccctgagaggattttcCacaagatttacatccagagg	12	9	9	11	0	0	3	0	1	0	3	2	5	2	4	4	2	2	0	4	2	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:45650062C>T	ENST00000297323.7	+	3	896	c.874C>T	c.(874-876)Cac>Tac	p.H292Y	ADCY1_ENST00000432715.1_Missense_Mutation_p.H67Y	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	292					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GAGGATTTTCCACAAGATTTA	0.572													45	99					0	0	0	0	T	45650062	C	T	45650062	3	4	364	1	0	0	0	0	1	0	0	0	292	594	21	4	884	4	ADCY1	7	45650062	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	646043	45650062	113488601	773	69702											
ADCY1	107	broad.mit.edu	37	chr7	45743070	45743070	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgtcgcccagcacttcctCatgtccaaccctcggaacat	9	8	6	18	3	1	0	1	0	0	0	5	1	3	1	4	1	3	1	4	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:45743070C>T	ENST00000297323.7	+	15	2572	c.2550C>T	c.(2548-2550)ctC>ctT	p.L850L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	850					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AGCACTTCCTCATGTCCAACC	0.637													5	36					0	0	0	0	T	45743070	C	T	45743070	2	4	364	1	0	0	0	0	0	0	0	1	292	813	29	2		2	ADCY1	7	45743070	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	93008	45743070	113395593	774	69703											
TNS3	64759	broad.mit.edu	37	chr7	47323382	47323382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggaggctcctggaccaggGtgatgctcagggccttctgg	5	9	17	10	0	2	1	1	1	1	0	3	3	3	3	3	6	1	2	3	6	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:47323382G>A	ENST00000398879.1	-	28	4376	c.4010C>T	c.(4009-4011)aCc>aTc	p.T1337I	TNS3_ENST00000311160.9_Missense_Mutation_p.T1337I|TNS3_ENST00000355730.3_Missense_Mutation_p.T1097I			Q68CZ2	TENS3_HUMAN	tensin 3	1337						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTGGACCAGGGTGATGCTCAG	0.577													12	71					0	0	0	0	A	47323382	G	A	47323382	3	1	364	1	0	0	0	0	1	0	0	0	16438	1261	44	4	343	4	TNS3	7	47323382	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1580312	47323382	111815281	775	69704											
PKD1L1	168507	broad.mit.edu	37	chr7	47842808	47842808	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ataaaggggagagttcttacCcctgctacaaagatgctggg	12	9	12	8	0	1	2	0	0	1	2	1	3	1	2	2	3	4	3	2	3	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:47842808C>T	ENST00000289672.2	-	53	8012	c.7962_splice	c.e53+1	p.G2654_splice	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2654					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGTTCTTACCCCTGCTACAA	0.453													8	83					0	0	0	0	T	47842808	C	T	47842808	5	4	364	1	0	0	0	0	0	0	1	0	12036	637	22	4	607	4	PKD1L1	7	47842808	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	519426	47842808	111295855	776	69705											
SUN3	256979	broad.mit.edu	37	chr7	48033956	48033956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actggagatgtttcctgacgGagacaccttctctgagatgt	9	12	11	9	1	1	4	0	2	1	3	3	7	2	4	2	2	0	1	2	2	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:48033956G>A	ENST00000453192.2	-	9	1024	c.781C>T	c.(781-783)Ccg>Tcg	p.P261S	SUN3_ENST00000297325.4_Missense_Mutation_p.P273S|SUN3_ENST00000412142.1_Missense_Mutation_p.P173S|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.P273S			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	273	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCCTGACGGAGACACCTTC	0.453													75	125					0	0	0	0	A	48033956	G	A	48033956	3	1	364	1	0	0	0	0	1	0	0	0	15483	1174	41	2	268	2	SUN3	7	48033956	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	191148	48033956	111104707	777	69706											
ABCA13	154664	broad.mit.edu	37	chr7	48528921	48528921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcagcacctaccccctaCtgtggactggagacaatacg	10	7	11	13	1	0	1	0	0	0	1	0	3	0	2	3	3	4	2	3	3	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:48528921C>T	ENST00000435803.1	+	48	13295	c.13271C>T	c.(13270-13272)aCt>aTt	p.T4424I	ABCA13_ENST00000544596.1_Missense_Mutation_p.T154I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4424					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						CTACCCCCTACTGTGGACTGG	0.343													7	28					0	0	0	0	T	48528921	C	T	48528921	3	4	364	1	0	0	0	0	1	0	0	0	31	565	20	4	13290	4	ABCA13	7	48528921	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	494965	48528921	110609742	778	69707											
DDC	1644	broad.mit.edu	37	chr7	50605614	50605614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaaaatgcctttggtagttCcagcatcttcccgagccagt	10	11	8	12	1	1	0	0	0	1	0	3	1	3	0	4	1	3	3	4	1	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:50605614C>T	ENST00000444124.2	-	4	579	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	DDC_ENST00000380984.4_Missense_Mutation_p.E127K|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Missense_Mutation_p.E127K|DDC_ENST00000426377.1_Intron|DDC_ENST00000431062.1_Missense_Mutation_p.E127K|AC018705.5_ENST00000454521.1_RNA	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	127	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.E127*(2)|p.E127S(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TTTGGTAGTTCCAGCATCTTC	0.567													24	76					0	0	0	0	T	50605614	C	T	50605614	3	4	364	1	0	0	0	0	1	0	0	0	4357	864	30	2	1107	2	DDC	7	50605614	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2076693	50605614	108533049	779	69708											
ZNF479	90827	broad.mit.edu	37	chr7	57188704	57188704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttaacttcactataacctcCcttgtgcacctcatattcac	10	14	3	14	0	3	0	3	0	0	0	4	0	4	0	3	0	3	2	3	0	4	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:57188704C>T	ENST00000331162.4	-	5	688	c.418G>A	c.(418-420)Gga>Aga	p.G140R		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CTATAACCTCCCTTGTGCACC	0.313													34	155					0	0	0	0	T	57188704	C	T	57188704	3	4	364	1	0	0	0	0	1	0	0	0	18028	632	22	4	1160	4	ZNF479	7	57188704	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	6583090	57188704	101949959	780	69709											
CALN1	83698	broad.mit.edu	37	chr7	71488753	71488753	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaaaatccacctggccatcCcctgcaaggagaagatgtaa	14	7	8	12	0	1	2	1	0	0	2	3	3	3	2	5	2	1	2	5	2	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:71488753C>T	ENST00000395275.2	-	5	778	c.388_splice	c.e5-1	p.G130_splice	CALN1_ENST00000412588.1_Splice_Site_p.G130_splice|CALN1_ENST00000395276.2_Splice_Site_p.G88_splice|CALN1_ENST00000405452.2_Splice_Site_p.G88_splice|CALN1_ENST00000329008.5_Splice_Site_p.G88_splice|CALN1_ENST00000431984.1_Splice_Site_p.G88_splice	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	88						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCTGGCCATCCCCTGCAAGGA	0.458													13	106					0	0	0	0	T	71488753	C	T	71488753	5	4	364	1	0	0	0	0	0	0	1	0	2616	637	22	4	407	4	CALN1	7	71488753	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	14300049	71488753	87649910	781	69710											
TBL2	26608	broad.mit.edu	37	chr7	72985181	72985181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagagggccaggcggcacgGcgcggcacccgccgcctctt	5	3	17	16	6	1	1	0	0	1	1	1	2	1	1	4	6	0	2	4	6	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:72985181G>A	ENST00000305632.5	-	7	1241	c.1000C>T	c.(1000-1002)Ccg>Tcg	p.P334S	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.P298S	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	334										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGCGGCACGGCGCGGCACCC	0.602													20	87					0	0	0	0	A	72985181	G	A	72985181	3	1	364	1	0	0	0	0	1	0	0	0	15736	1203	42	4	347	4	TBL2	7	72985181	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1496428	72985181	86153482	782	69711											
STX1A	6804	broad.mit.edu	37	chr7	73115191	73115191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcggggccgggggcacccGagctccagagggccccctcc	4	3	16	18	3	0	1	0	0	0	1	2	2	2	1	6	5	2	2	6	5	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:73115191G>A	ENST00000395155.3	-	9	748	c.749C>T	c.(748-750)tCg>tTg	p.S250L	STX1A_ENST00000484736.1_5'UTR|WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000395154.3_3'UTR|STX1A_ENST00000395156.3_Intron|STX1A_ENST00000222812.3_Intron			Q16623	STX1A_HUMAN	syntaxin 1A (brain)	0	t-SNARE coiled-coil homology.				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGGGGCACCCGAGCTCCAGAG	0.612													13	28					0	0	0	0	A	73115191	G	A	73115191	3	1	364	1	0	0	0	0	1	0	0	0	15433	1073	37	1		1	STX1A	7	73115191	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	130010	73115191	86023472	783	69712											
EIF4H	7458	broad.mit.edu	37	chr7	73604022	73604022	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggattctgctatgtagaattCgatgaagtggattcccttaa	11	14	10	6	1	1	2	0	1	1	1	3	5	2	4	1	2	1	2	1	2	5	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:73604022C>T	ENST00000265753.8	+	3	406	c.267C>T	c.(265-267)ttC>ttT	p.F89F	EIF4H_ENST00000353999.6_Silent_p.F89F|EIF4H_ENST00000495187.1_3'UTR	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	89	RRM.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						ATGTAGAATTCGATGAAGTGG	0.408													8	44					0	0	0	0	T	73604022	C	T	73604022	2	4	364	1	0	0	0	0	0	0	0	1	5077	883	31	1		1	EIF4H	7	73604022	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	488831	73604022	85534641	784	69713											
NCF1	653361	broad.mit.edu	37	chr7	74193715	74193715	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atctcccgctgtccccacctCctcgacttcttcaaggtgcg	5	11	7	18	3	3	0	1	0	2	0	7	1	5	0	5	1	1	1	5	1	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:74193715C>T	ENST00000289473.4	+	4	412	c.342C>T	c.(340-342)ctC>ctT	p.L114L	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	114	PX.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						GTCCCCACCTCCTCGACTTCT	0.632													6	50					0	0	0	0	T	74193715	C	T	74193715	2	4	364	1	0	0	0	0	0	0	0	1	10286	842	30	2		2	NCF1	7	74193715	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	589693	74193715	84944948	785	69714											
HIP1	3092	broad.mit.edu	37	chr7	75203141	75203141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagatgacctggatcagcgGggcgaggcggcactgccctg	8	5	16	12	3	1	2	1	1	0	1	1	4	1	3	2	5	2	1	2	5	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:75203141G>A	ENST00000336926.6	-	8	696	c.670C>T	c.(670-672)Ccg>Tcg	p.P224S	HIP1_ENST00000434438.2_Missense_Mutation_p.P224S	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	224					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGATCAGCGGGGCGAGGCGG	0.547			T	PDGFRB	CMML								28	48					0	0	0	0	A	75203141	G	A	75203141	3	1	364	1	0	0	0	0	1	0	0	0	7164	1232	43	4	2539	4	HIP1	7	75203141	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1009426	75203141	83935522	786	69715											
MDH2	4191	broad.mit.edu	37	chr7	75687336	75687336	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgccacgattgtggccacCctgaccgctgcctgtgccca	7	8	10	16	2	0	1	0	1	0	0	0	2	0	1	6	1	3	1	6	1	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:75687336C>T	ENST00000315758.5	+	4	463	c.369C>T	c.(367-369)acC>acT	p.T123T	MDH2_ENST00000432020.2_Silent_p.T123T|MDH2_ENST00000443006.1_Silent_p.T16T	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	123					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	TTGTGGCCACCCTGACCGCTG	0.557													9	45					0	0	0	0	T	75687336	C	T	75687336	2	4	364	1	0	0	0	0	0	0	0	1	9479	610	22	4		4	MDH2	7	75687336	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	484195	75687336	83451327	787	69716											
SRCRB4D	136853	broad.mit.edu	37	chr7	76019433	76019433	+	Nonsense_Mutation	SNP	C	C	T																															tggtcacagttgtgggcatcCcagcggatatgagagcagag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:76019433C>T	ENST00000275560.3	-	11	2018	c.1671G>A	c.(1669-1671)tgG>tgA	p.W557*	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	557	SRCR 4.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TGTGGGCATCCCAGCGGATAT	0.602													9	98					0	0	0	0	T	76019433	C	T	76019433	4	4	364	1	0	0	0	0	0	1	0	0	15227	624	22	4	60	4	SRCRB4D	7	76019433	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	332097	76019433	83119230	788	69717	888	2									
SRCRB4D	136853	broad.mit.edu	37	chr7	76019439	76019439	+	Silent	SNP	G	G	A																															cagttgtgggcatcccagcgGatatgagagcagagcagcag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:76019439G>A	ENST00000275560.3	-	11	2012	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	555	SRCR 4.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CATCCCAGCGGATATGAGAGC	0.612													9	96					0	0	0	0	A	76019439	G	A	76019439	2	1	364	1	0	0	0	0	0	0	0	1	15227	1164	41	2		2	SRCRB4D	7	76019439	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6	76019439	83119224	789	69718	888	2									
POMZP3	22932	broad.mit.edu	37	chr7	76240831	76240831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgacacgaggctgcctcCtggaatggcttggagtgcca	8	8	13	12	2	1	0	1	0	0	0	2	4	2	2	3	4	2	2	3	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:76240831C>T	ENST00000310842.4	-	6	1199	c.515G>A	c.(514-516)aGg>aAg	p.R172K	AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron|POMZP3_ENST00000275569.4_Intron|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	172										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGGCTGCCTCCTGGAATGGCT	0.537													17	19					0	0	0	0	T	76240831	C	T	76240831	3	4	364	1	0	0	0	0	1	0	0	0	12319	681	24	4	59	4	POMZP3	7	76240831	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	221392	76240831	82897832	790	69719											
MAGI2	9863	broad.mit.edu	37	chr7	78636502	78636502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taagttgaggtagtgacgaaGgtctttatcaacaattcctc	12	13	9	7	1	2	2	1	2	1	0	4	3	3	2	1	2	1	2	1	2	6	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:78636502G>A	ENST00000354212.4	-	2	575	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F	MAGI2_ENST00000522391.1_Missense_Mutation_p.L108F|MAGI2_ENST00000419488.1_Missense_Mutation_p.L108F	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	108						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAGTGACGAAGGTCTTTATCA	0.378													10	63					0	0	0	0	A	78636502	G	A	78636502	3	1	364	1	0	0	0	0	1	0	0	0	9260	1000	35	4	4129	4	MAGI2	7	78636502	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2395671	78636502	80502161	791	69720											
HGF	3082	broad.mit.edu	37	chr7	81381476	81381476	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagacttcgtagcgtacCtctggattgcttgtgaaaca	10	12	9	10	2	2	2	1	1	1	1	3	3	2	3	1	1	4	3	1	1	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:81381476C>T	ENST00000222390.5	-	5	811	c.585G>A	c.(583-585)gaG>gaA	p.E195E	HGF_ENST00000453411.1_Silent_p.E190E|HGF_ENST00000457544.2_Silent_p.E190E|HGF_ENST00000444829.2_Silent_p.E195E|HGF_ENST00000423064.2_Silent_p.E195E	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	195	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CGTAGCGTACCTCTGGATTGC	0.473													33	69					0	0	0	0	T	81381476	C	T	81381476	2	4	364	1	0	0	0	0	0	0	0	1	7135	680	24	4		4	HGF	7	81381476	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2744974	81381476	77757187	792	69721											
HGF	3082	broad.mit.edu	37	chr7	81381563	81381563	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtaggtctttaccccgataGctcgaaggcaaaaagctagt	12	10	10	9	2	1	0	0	0	1	0	2	2	1	0	2	2	3	4	2	2	7	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:81381563G>A	ENST00000457544.2	-	5	559	c.482_splice	c.e5-1	p.S161_splice	HGF_ENST00000453411.1_Splice_Site_p.S161_splice|HGF_ENST00000222390.5_Silent_p.S166S|HGF_ENST00000444829.2_Silent_p.S166S|HGF_ENST00000423064.2_Silent_p.S166S	NM_001010932.1	NP_001010932.1	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	161	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TACCCCGATAGCTCGAAGGCA	0.398													8	74					0	0	0	0	A	81381563	G	A	81381563	5	1	364	1	0	0	0	0	0	0	1	0	7135	985	34	4	1764	4	HGF	7	81381563	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	87	81381563	77757100	793	69722											
PCLO	27445	broad.mit.edu	37	chr7	82544738	82544738	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatttcttatgctttgaCtgcttttgataaagtatggc	9	18	9	5	0	1	3	0	3	1	0	1	3	1	3	0	1	2	3	0	1	4	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82544738C>A	ENST00000423517.2	-	7	12901	c.12564G>T	c.(12562-12564)caG>caT	p.Q4188H	PCLO_ENST00000333891.8_Missense_Mutation_p.Q4188H|PCLO_ENST00000437081.1_Missense_Mutation_p.Q908H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4119					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATGCTTTGACTGCTTTTGAT	0.348													28	61					2.65835e-16	2.75082e-16	1	0	A	82544738	C	A	82544738	3	1	364	1	0	0	0	0	1	0	0	0	11654	564	20	4	2957	4	PCLO	7	82544738	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1163175	82544738	76593925	794	69723											
PCLO	27445	broad.mit.edu	37	chr7	82544869	82544869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatggtaataatgagaaaGaccagcaaggtgatctaagc	17	7	11	6	0	1	3	0	2	1	2	1	4	1	3	1	2	3	3	1	2	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82544869G>T	ENST00000423517.2	-	7	12770	c.12433C>A	c.(12433-12435)Ctt>Att	p.L4145I	PCLO_ENST00000333891.8_Missense_Mutation_p.L4145I|PCLO_ENST00000437081.1_Missense_Mutation_p.L865I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4076					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAATGAGAAAGACCAGCAAGG	0.398													26	128					1.13719e-10	1.16517e-10	1	0	T	82544869	G	T	82544869	3	4	364	1	0	0	0	0	1	0	0	0	11654	942	33	2	3088	2	PCLO	7	82544869	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	131	82544869	76593794	795	69724											
PCLO	27445	broad.mit.edu	37	chr7	82545878	82545878	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcctttaatagggcctctttCctcctgttaattcccatttc	6	18	4	13	0	1	0	0	0	1	0	6	0	5	0	5	1	0	1	5	1	3	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82545878C>T	ENST00000423517.2	-	7	11761	c.11424G>A	c.(11422-11424)agG>agA	p.R3808R	PCLO_ENST00000333891.8_Silent_p.R3808R|PCLO_ENST00000437081.1_Silent_p.R528R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3739	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCCTCTTTCCTCCTGTTAA	0.448													12	74					0	0	0	0	T	82545878	C	T	82545878	2	4	364	1	0	0	0	0	0	0	0	1	11654	854	30	2		2	PCLO	7	82545878	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1009	82545878	76592785	796	69725											
PCLO	27445	broad.mit.edu	37	chr7	82586136	82586136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcagttggaataagacttGgaatttcaccaagtgagctt	13	12	9	7	0	2	2	2	1	0	1	2	4	2	4	1	2	1	2	1	2	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82586136G>A	ENST00000423517.2	-	5	4470	c.4133C>T	c.(4132-4134)cCa>cTa	p.P1378L	PCLO_ENST00000333891.8_Missense_Mutation_p.P1378L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1309					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AATAAGACTTGGAATTTCACC	0.448													7	69					0	0	0	0	A	82586136	G	A	82586136	3	1	364	1	0	0	0	0	1	0	0	0	11654	1348	47	4	11396	4	PCLO	7	82586136	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	40258	82586136	76552527	797	69726											
SEMA3A	10371	broad.mit.edu	37	chr7	83636728	83636728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccattgatagttgggtcCatccctgtgggcatatggac	8	11	11	11	0	0	1	0	1	0	0	2	2	2	2	3	3	0	2	3	3	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:83636728C>T	ENST00000265362.3	-	10	1395	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G361R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	361	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TAGTTGGGTCCATCCCTGTGG	0.433													15	117					0	0	0	0	T	83636728	C	T	83636728	3	4	364	1	0	0	0	0	1	0	0	0	14111	603	21	4	1266	4	SEMA3A	7	83636728	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1050592	83636728	75501935	798	69727											
DMTF1	9988	broad.mit.edu	37	chr7	86803936	86803936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggaagcaggggatgtggtCcaaggaagaaattgatattt	14	10	14	3	0	0	2	0	1	0	1	1	5	1	5	1	5	1	1	1	5	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:86803936C>T	ENST00000394703.5	+	9	1033	c.470C>T	c.(469-471)tCc>tTc	p.S157F	DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000331242.7_Missense_Mutation_p.S157F|DMTF1_ENST00000394702.3_Missense_Mutation_p.S157F|DMTF1_ENST00000413276.2_Missense_Mutation_p.S157F|DMTF1_ENST00000432937.2_Missense_Mutation_p.S69F|DMTF1_ENST00000411766.2_Missense_Mutation_p.S116F	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	157	Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GGGATGTGGTCCAAGGAAGAA	0.299													28	56					0	0	0	0	T	86803936	C	T	86803936	3	4	364	1	0	0	0	0	1	0	0	0	4629	855	30	2	488	2	DMTF1	7	86803936	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3167208	86803936	72334727	799	69728											
RUNDC3B	154661	broad.mit.edu	37	chr7	87459342	87459342	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaggcctaactccatcCtgaaaatttttgtgtaaaag	13	12	7	9	0	0	1	0	1	0	0	3	1	3	1	4	1	1	1	4	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:87459342C>T	ENST00000338056.3	+	12	1830	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	RUNDC3B_ENST00000493037.1_Silent_p.S407S|RUNDC3B_ENST00000394654.3_Silent_p.S456S	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	473										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TAACTCCATCCTGAAAATTTT	0.348													9	75					0	0	0	0	T	87459342	C	T	87459342	2	4	364	1	0	0	0	0	0	0	0	1	13830	668	24	4		4	RUNDC3B	7	87459342	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	655406	87459342	71679321	800	69729											
ZNF804B	219578	broad.mit.edu	37	chr7	88963669	88963669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaccactcttcaatggcCtacggaacttctgctcttta	9	12	5	15	1	4	0	1	0	3	0	4	1	4	1	3	2	3	1	3	2	4	5	rs150650174		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:88963669C>T	ENST00000333190.4	+	4	1982	c.1373C>T	c.(1372-1374)cCt>cTt	p.P458L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	458						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTTCAATGGCCTACGGAACTT	0.423										HNSCC(36;0.09)			14	98					0	0	0	0	T	88963669	C	T	88963669	3	4	364	1	0	0	0	0	1	0	0	0	18264	681	24	4	1387	4	ZNF804B	7	88963669	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1504327	88963669	70174994	801	69730											
AKAP9	10142	broad.mit.edu	37	chr7	91632538	91632538	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaagaactcaatgtacttAaatcagaacaggtatgttta	18	11	7	5	0	2	3	2	0	0	3	2	3	2	3	0	1	3	3	0	1	9	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:91632538A>T	ENST00000359028.2	+	9	3568	c.3343A>T	c.(3343-3345)Aaa>Taa	p.K1115*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.K1115*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.K1103*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1115					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAATGTACTTAAATCAGAACA	0.318			T	BRAF	papillary thyroid								26	59					0	0	0	0	T	91632538	A	T	91632538	4	4	364	1	0	0	0	0	0	1	0	0	459	363	13	5	3337	5	AKAP9	7	91632538	Nonsense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	2668869	91632538	67506125	802	69731											
ANKIB1	54467	broad.mit.edu	37	chr7	91972502	91972502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgctcttctgtcacctccCcagatgaaatcagcttatct	9	12	5	15	1	5	2	2	1	3	1	6	2	6	2	3	0	1	2	3	0	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:91972502C>T	ENST00000265742.3	+	6	1328	c.952C>T	c.(952-954)Cca>Tca	p.P318S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	318							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGTCACCTCCCCAGATGAAAT	0.448													10	27					0	0	0	0	T	91972502	C	T	91972502	3	4	364	1	0	0	0	0	1	0	0	0	630	623	22	4	970	4	ANKIB1	7	91972502	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	339964	91972502	67166161	803	69732											
COL1A2	1278	broad.mit.edu	37	chr7	94034999	94034999	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctaagggtgctcgtggtttCcctggaactcctggacttcc	5	13	11	12	1	1	0	0	0	1	0	5	2	4	2	3	4	2	2	3	4	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:94034999C>T	ENST00000297268.6	+	11	972	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	167					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCGTGGTTTCCCTGGAACTC	0.378										HNSCC(75;0.22)			23	141					0	0	0	0	T	94034999	C	T	94034999	2	4	364	1	0	0	0	0	0	0	0	1	3708	854	30	2		2	COL1A2	7	94034999	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2062497	94034999	65103664	804	69733											
PPP1R9A	55607	broad.mit.edu	37	chr7	94898678	94898678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatagctgaatttcaagaaGaaccactggacccagaaatg	17	7	8	9	0	1	4	1	1	0	3	1	5	1	5	2	1	2	1	2	1	6	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:94898678G>A	ENST00000289495.5	+	12	3079	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E973K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E973K|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E995K|PPP1R9A_ENST00000433881.1_Intron	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	943	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTTCAAGAAGAACCACTGGA	0.488										HNSCC(28;0.073)			18	75					0	0	0	0	A	94898678	G	A	94898678	3	1	364	1	0	0	0	0	1	0	0	0	12454	943	33	2	3033	2	PPP1R9A	7	94898678	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	863679	94898678	64239985	805	69734											
PPP1R9A	55607	broad.mit.edu	37	chr7	94919528	94919528	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaacaaagagaaaagctaagGagaaaggagcaagagcaaat	24	2	11	4	0	0	3	0	0	0	3	0	6	0	4	0	2	4	3	0	2	8	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:94919528G>A	ENST00000289495.5	+	18	4020	c.3804G>A	c.(3802-3804)agG>agA	p.R1268R	PPP1R9A_ENST00000456331.2_Silent_p.R1225R|PPP1R9A_ENST00000424654.1_Silent_p.R1225R|PPP1R9A_ENST00000340694.4_Silent_p.R1070R|PPP1R9A_ENST00000433360.1_Silent_p.R1346R|PPP1R9A_ENST00000433881.1_Silent_p.R1070R	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	1070						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAAGCTAAGGAGAAAGGAGC	0.448										HNSCC(28;0.073)			4	27					0	0	0	0	A	94919528	G	A	94919528	2	1	364	1	0	0	0	0	0	0	0	1	12454	1165	41	2		2	PPP1R9A	7	94919528	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	20850	94919528	64219135	806	69735											
NPTX2	4885	broad.mit.edu	37	chr7	98257804	98257804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgcgtccttcgcgcacaaGaaattgtcaacatcgccaac	12	7	7	15	5	1	1	1	0	0	1	4	1	2	1	3	0	2	1	3	0	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:98257804G>A	ENST00000265634.3	+	5	1324	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	387	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCGCGCACAAGAAATTGTCAA	0.572													4	12					0	0	0	0	A	98257804	G	A	98257804	3	1	364	1	0	0	0	0	1	0	0	0	10674	943	33	2	1177	2	NPTX2	7	98257804	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3338276	98257804	60880859	807	69736											
TRRAP	8295	broad.mit.edu	37	chr7	98501139	98501139	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcaccacagagctgagaaaCcgtacgtccagcctgtcttg	10	8	9	14	2	2	2	1	1	1	2	3	3	3	2	4	0	4	2	4	0	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:98501139C>T	ENST00000359863.4	+	12	1244	c.1036_splice	c.e12+1	p.N345_splice	TRRAP_ENST00000446306.3_Splice_Site_p.N345_splice|TRRAP_ENST00000355540.3_Splice_Site_p.N345_splice	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	345					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTGAGAAACCGTACGTCCA	0.498													15	105					0	0	0	0	T	98501139	C	T	98501139	5	4	364	1	0	0	0	0	0	0	1	0	16696	521	18	4	1077	4	TRRAP	7	98501139	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	243335	98501139	60637524	808	69737											
CYP3A43	64816	broad.mit.edu	37	chr7	99459380	99459380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagtgttcattcccaaaGggttagcagtgatggttcca	10	12	12	7	0	1	1	1	1	0	0	3	2	3	2	2	3	1	4	2	3	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:99459380G>A	ENST00000354829.2	+	11	1274	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R	CYP3A43_ENST00000222382.5_Missense_Mutation_p.G391R|CYP3A43_ENST00000444905.1_Missense_Mutation_p.G138R|CYP3A43_ENST00000342499.4_Missense_Mutation_p.G251R|CYP3A43_ENST00000417625.1_Missense_Mutation_p.G281R|CYP3A43_ENST00000415413.1_Missense_Mutation_p.G180R|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000312017.5_Missense_Mutation_p.G391R	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	391			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CATTCCCAAAGGGTTAGCAGT	0.453													25	104					0	0	0	0	A	99459380	G	A	99459380	3	1	364	1	0	0	0	0	1	0	0	0	4211	1000	35	4	1213	4	CYP3A43	7	99459380	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	958241	99459380	59679283	809	69738											
MCM7	4176	broad.mit.edu	37	chr7	99696750	99696750	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattccacgcacagttaccaActtccccacagagtcagccc	11	7	6	17	1	1	1	1	0	0	1	3	2	3	1	5	0	3	2	5	0	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:99696750A>G	ENST00000303887.5	-	5	1123	c.478T>C	c.(478-480)Ttg>Ctg	p.L160L	MCM7_ENST00000343023.6_Silent_p.L160L|MCM7_ENST00000354230.3_5'UTR	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	160					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	ACAGTTACCAACTTCCCCACA	0.527													34	54					0	0	0	0	G	99696750	A	G	99696750	2	3	364	1	0	0	0	0	0	0	0	1	9461	40	2	5		5	MCM7	7	99696750	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	237370	99696750	59441913	810	69739											
ZCWPW1	55063	broad.mit.edu	37	chr7	99998661	99998661	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcccaaacagcgccacgggGaagtcctcgccatcactgtt	9	8	9	15	3	1	0	1	0	0	0	4	1	3	1	4	2	2	1	4	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:99998661G>A	ENST00000398027.2	-	18	2170	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Silent_p.F470F|ZCWPW1_ENST00000490721.1_Silent_p.F470F	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	641							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGCCACGGGGAAGTCCTCGC	0.597													6	35					0	0	0	0	A	99998661	G	A	99998661	2	1	364	1	0	0	0	0	0	0	0	1	17692	1165	41	2		2	ZCWPW1	7	99998661	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	301911	99998661	59140002	811	69740											
FBXO24	26261	broad.mit.edu	37	chr7	100189332	100189332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcatttggaggccgccgccGatgtctcagcaagagcgtgg	7	7	16	11	4	1	1	1	0	1	1	2	3	1	2	3	4	2	2	3	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100189332G>A	ENST00000241071.6	+	4	687	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	FBXO24_ENST00000468962.1_Missense_Mutation_p.R110Q|FBXO24_ENST00000465843.1_Missense_Mutation_p.R108Q|FBXO24_ENST00000427939.2_Missense_Mutation_p.R160Q|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.R108Q	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	122						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCCGCCGCCGATGTCTCAGC	0.582													13	81					0	0	0	0	A	100189332	G	A	100189332	3	1	364	1	0	0	0	0	1	0	0	0	5780	1058	37	1	536	1	FBXO24	7	100189332	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	190671	100189332	58949331	812	69741											
ZAN	7455	broad.mit.edu	37	chr7	100350374	100350374	+	RNA	SNP	G	G	A																															gaaaaactcaccatccccacGgaaaaacccaccatccccat																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100350374G>A	ENST00000542585.1	+	0	2794				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCATCCCCACGGAAAAACCCA	0.502													28	98					0	0	0	0	A	100350374	G	A	100350374	1	1	364	0	1	0	0	0	0	0	0	0	17609	1103	39	1		1	ZAN	7	100350374	RNA	SNP	G	TCGA-D6-6516-01A-11D-1870-08	161042	100350374	58788289	813	69742	889	2									
ZAN	7455	broad.mit.edu	37	chr7	100350375	100350375	+	RNA	SNP	G	G	A																															aaaaactcaccatccccacgGaaaaacccaccatccccatt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100350375G>A	ENST00000542585.1	+	0	2795				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATCCCCACGGAAAAACCCAC	0.507													27	97					0	0	0	0	A	100350375	G	A	100350375	1	1	364	0	1	0	0	0	0	0	0	0	17609	1175	41	2		2	ZAN	7	100350375	RNA	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	100350375	58788288	814	69743	889	2									
MUC17	140453	broad.mit.edu	37	chr7	100677450	100677450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccagcatgccaacctcaaCtcctggggaaggaagcactc	12	6	9	14	0	1	0	1	0	0	0	3	2	2	2	4	3	6	2	4	3	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100677450C>T	ENST00000306151.4	+	3	2817	c.2753C>T	c.(2752-2754)aCt>aTt	p.T918I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	918	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAACCTCAACTCCTGGGGAA	0.507													48	852					0	0	0	0	T	100677450	C	T	100677450	3	4	364	1	0	0	0	0	1	0	0	0	10044	565	20	4	2763	4	MUC17	7	100677450	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	327075	100677450	58461213	815	69744											
MUC17	140453	broad.mit.edu	37	chr7	100677989	100677989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaacctcaacttatagtGaaggaagcactccactaaca	15	8	6	12	0	1	1	1	1	0	0	2	2	2	2	3	1	5	1	3	1	7	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100677989G>A	ENST00000306151.4	+	3	3356	c.3292G>A	c.(3292-3294)Gaa>Aaa	p.E1098K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1098	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTTATAGTGAAGGAAGCAC	0.517													101	1018					0	0	0	0	A	100677989	G	A	100677989	3	1	364	1	0	0	0	0	1	0	0	0	10044	1291	45	2	3302	2	MUC17	7	100677989	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	539	100677989	58460674	816	69745											
MUC17	140453	broad.mit.edu	37	chr7	100678973	100678973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctgttgacaccagcaccCctgggaccacttctgctgaa	8	9	8	16	0	1	2	0	2	1	0	2	3	2	3	5	1	2	3	5	1	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100678973C>T	ENST00000306151.4	+	3	4340	c.4276C>T	c.(4276-4278)Cct>Tct	p.P1426S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1426	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCAGCACCCCTGGGACCAC	0.498													102	432					0	0	0	0	T	100678973	C	T	100678973	3	4	364	1	0	0	0	0	1	0	0	0	10044	623	22	4	4286	4	MUC17	7	100678973	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	984	100678973	58459690	817	69746											
MUC17	140453	broad.mit.edu	37	chr7	100680999	100680999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctcctagtgaaggaaGtcctctactaacaagtatac	13	10	7	11	0	2	1	1	1	1	0	4	2	4	2	2	1	4	2	2	1	8	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100680999G>A	ENST00000306151.4	+	3	6366	c.6302G>A	c.(6301-6303)aGt>aAt	p.S2101N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2101	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTGAAGGAAGTCCTCTACTA	0.507													50	292					0	0	0	0	A	100680999	G	A	100680999	3	1	364	1	0	0	0	0	1	0	0	0	10044	1029	36	4	6312	4	MUC17	7	100680999	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2026	100680999	58457664	818	69747											
CUX1	1523	broad.mit.edu	37	chr7	101891804	101891804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccgggcggcgcccagctcgGagggcgacagctgcgacggc	5	2	19	15	7	0	0	0	0	0	0	1	3	0	1	2	5	3	2	2	5	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:101891804G>A	ENST00000360264.3	+	24	4053	c.4033G>A	c.(4033-4035)Gag>Aag	p.E1345K	CUX1_ENST00000556210.1_Missense_Mutation_p.E1176K|CUX1_ENST00000550008.2_Missense_Mutation_p.E1278K|CUX1_ENST00000549414.2_Missense_Mutation_p.E1312K|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.E1232K|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.E1334K|CUX1_ENST00000292538.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1334					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCCAGCTCGGAGGGCGACAG	0.721													3	11					0	0	0	0	A	101891804	G	A	101891804	3	1	364	1	0	0	0	0	1	0	0	0	4096	1175	41	2	4161	2	CUX1	7	101891804	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1210805	101891804	57246859	819	69748											
LHFPL3	375612	broad.mit.edu	37	chr7	104377334	104377334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaagacagcttgatggcaGaggaactgaaggcagaaaac	17	4	13	7	0	0	5	0	2	0	3	0	7	0	6	0	3	3	3	0	3	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:104377334G>A	ENST00000535008.1	+	4	782	c.658G>A	c.(658-660)Gag>Aag	p.E220K	LHFPL3_ENST00000424859.1_Missense_Mutation_p.E206K|LHFPL3_ENST00000401970.2_Missense_Mutation_p.E206K|LHFPL3_ENST00000543266.1_Missense_Mutation_p.E220K			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	206						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						CTTGATGGCAGAGGAACTGAA	0.443													3	20					0	0	0	0	A	104377334	G	A	104377334	3	1	364	1	0	0	0	0	1	0	0	0	8820	943	33	2	664	2	LHFPL3	7	104377334	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2485530	104377334	54761329	820	69749											
COG5	10466	broad.mit.edu	37	chr7	106924058	106924058	+	Missense_Mutation	SNP	G	G	A																															catcaagttcatcagaggaaGgaggattacgaccacccggg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:106924058G>A	ENST00000393603.2	-	13	1797	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	COG5_ENST00000347053.3_Missense_Mutation_p.P509L|COG5_ENST00000297135.3_Missense_Mutation_p.P509L	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	509					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCAGAGGAAGGAGGATTACG	0.388													14	87					0	0	0	0	A	106924058	G	A	106924058	3	1	364	1	0	0	0	0	1	0	0	0	3691	1000	35	4	1100	4	COG5	7	106924058	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2546724	106924058	52214605	821	69750	890	2									
COG5	10466	broad.mit.edu	37	chr7	106924059	106924059	+	Missense_Mutation	SNP	G	G	A																															atcaagttcatcagaggaagGaggattacgaccacccgggg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:106924059G>A	ENST00000393603.2	-	13	1796	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S	COG5_ENST00000347053.3_Missense_Mutation_p.P509S|COG5_ENST00000297135.3_Missense_Mutation_p.P509S	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	509					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCAGAGGAAGGAGGATTACGA	0.388													15	88					0	0	0	0	A	106924059	G	A	106924059	3	1	364	1	0	0	0	0	1	0	0	0	3691	1174	41	2	1101	2	COG5	7	106924059	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	106924059	52214604	822	69751	890	2									
LAMB1	3912	broad.mit.edu	37	chr7	107603364	107603364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttacctgtggctcgtagcGaattaggatgtcgtactcca	8	13	10	10	3	0	0	0	0	0	0	3	2	1	1	2	2	3	3	2	2	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:107603364G>A	ENST00000393561.1	-	13	2099	c.1915C>T	c.(1915-1917)Cgc>Tgc	p.R639C	LAMB1_ENST00000393560.1_Missense_Mutation_p.R615C|LAMB1_ENST00000222399.6_Missense_Mutation_p.R615C			P07942	LAMB1_HUMAN	laminin, beta 1	615	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.R615C(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTCGTAGCGAATTAGGATG	0.453													16	100					0	0	0	0	A	107603364	G	A	107603364	3	1	364	1	0	0	0	0	1	0	0	0	8663	1058	37	1	3597	1	LAMB1	7	107603364	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	679305	107603364	51535299	823	69752											
NRCAM	4897	broad.mit.edu	37	chr7	107836218	107836218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacttaccactcgatggttgGgagaggagacccaaagaagg	13	7	13	8	1	0	3	0	0	0	3	1	6	0	3	2	4	2	1	2	4	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:107836218G>A	ENST00000379028.3	-	15	1920	c.1450C>T	c.(1450-1452)Cca>Tca	p.P484S	NRCAM_ENST00000425651.2_Missense_Mutation_p.P484S|NRCAM_ENST00000413765.2_Missense_Mutation_p.P465S|NRCAM_ENST00000379022.4_Missense_Mutation_p.P484S|NRCAM_ENST00000379024.4_Missense_Mutation_p.P465S|NRCAM_ENST00000351718.4_Missense_Mutation_p.P478S			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	484	Ig-like 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCGATGGTTGGGAGAGGAGAC	0.423													4	23					0	0	0	0	A	107836218	G	A	107836218	3	1	364	1	0	0	0	0	1	0	0	0	10715	1232	43	4	2570	4	NRCAM	7	107836218	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	232854	107836218	51302445	824	69753											
IFRD1	3475	broad.mit.edu	37	chr7	112108061	112108061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttttatgaagacatggagtCcttgacgcagatgcttaggg	10	13	12	6	1	0	4	0	2	0	2	1	5	1	5	1	2	1	2	1	2	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:112108061C>T	ENST00000403825.3	+	9	1193	c.932C>T	c.(931-933)tCc>tTc	p.S311F	IFRD1_ENST00000535603.1_Missense_Mutation_p.S261F|IFRD1_ENST00000005558.4_Missense_Mutation_p.S311F	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	311					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GACATGGAGTCCTTGACGCAG	0.408													7	51					0	0	0	0	T	112108061	C	T	112108061	3	4	364	1	0	0	0	0	1	0	0	0	7606	855	30	2	966	2	IFRD1	7	112108061	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4271843	112108061	47030602	825	69754											
FOXP2	93986	broad.mit.edu	37	chr7	114284804	114284804	+	Missense_Mutation	SNP	G	G	A																															atggagtttgcaaatggccaGgctgtgaaagcatttgtgaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:114284804G>A	ENST00000393500.3	+	14	1649	c.829G>A	c.(829-831)Ggc>Agc	p.G277S	FOXP2_ENST00000378237.3_Missense_Mutation_p.G352S|FOXP2_ENST00000408937.3_Missense_Mutation_p.G377S|FOXP2_ENST00000393489.3_Missense_Mutation_p.G260S|FOXP2_ENST00000360232.4_Missense_Mutation_p.G352S|FOXP2_ENST00000350908.4_Missense_Mutation_p.G352S|FOXP2_ENST00000393494.2_Missense_Mutation_p.G352S|FOXP2_ENST00000393491.3_Missense_Mutation_p.G260S|FOXP2_ENST00000403559.4_Missense_Mutation_p.G369S|FOXP2_ENST00000393498.2_Missense_Mutation_p.G331S|FOXP2_ENST00000390668.3_Missense_Mutation_p.G376S			O15409	FOXP2_HUMAN	forkhead box P2	352					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CAAATGGCCAGGCTGTGAAAG	0.458													13	49					0	0	0	0	A	114284804	G	A	114284804	3	1	364	1	0	0	0	0	1	0	0	0	6074	1000	35	4	1214	4	FOXP2	7	114284804	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2176743	114284804	44853859	826	69755	891	2									
FOXP2	93986	broad.mit.edu	37	chr7	114284805	114284805	+	Missense_Mutation	SNP	G	G	A																															tggagtttgcaaatggccagGctgtgaaagcatttgtgaag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:114284805G>A	ENST00000393500.3	+	14	1650	c.830G>A	c.(829-831)gGc>gAc	p.G277D	FOXP2_ENST00000378237.3_Missense_Mutation_p.G352D|FOXP2_ENST00000408937.3_Missense_Mutation_p.G377D|FOXP2_ENST00000393489.3_Missense_Mutation_p.G260D|FOXP2_ENST00000360232.4_Missense_Mutation_p.G352D|FOXP2_ENST00000350908.4_Missense_Mutation_p.G352D|FOXP2_ENST00000393494.2_Missense_Mutation_p.G352D|FOXP2_ENST00000393491.3_Missense_Mutation_p.G260D|FOXP2_ENST00000403559.4_Missense_Mutation_p.G369D|FOXP2_ENST00000393498.2_Missense_Mutation_p.G331D|FOXP2_ENST00000390668.3_Missense_Mutation_p.G376D			O15409	FOXP2_HUMAN	forkhead box P2	352					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AAATGGCCAGGCTGTGAAAGC	0.458													13	49					0	0	0	0	A	114284805	G	A	114284805	3	1	364	1	0	0	0	0	1	0	0	0	6074	1203	42	4	1215	4	FOXP2	7	114284805	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	114284805	44853858	827	69756	891	2									
ST7	7982	broad.mit.edu	37	chr7	116759690	116759690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaagccacttgcgccccCttctgggaggggttgacaac	8	8	12	13	1	1	1	0	1	1	0	1	2	1	2	3	3	3	2	3	3	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:116759690C>T	ENST00000265437.5	+	3	524	c.310C>T	c.(310-312)Ctt>Ttt	p.L104F	ST7_ENST00000393451.3_Missense_Mutation_p.L104F|ST7_ENST00000323984.3_Missense_Mutation_p.L104F|ST7_ENST00000393447.4_Missense_Mutation_p.L61F|ST7_ENST00000393446.2_Missense_Mutation_p.L104F|ST7_ENST00000393443.1_Missense_Mutation_p.L54F|ST7_ENST00000432298.1_Missense_Mutation_p.L58F|ST7_ENST00000393444.3_Missense_Mutation_p.L61F|ST7-AS2_ENST00000432541.1_RNA|ST7-AS2_ENST00000442719.1_RNA|ST7_ENST00000465133.1_Missense_Mutation_p.L61F|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000422922.1_Missense_Mutation_p.L58F|ST7_ENST00000393449.1_Missense_Mutation_p.L104F|ST7_ENST00000487459.1_3'UTR	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	104						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTTGCGCCCCCTTCTGGGAGG	0.418													18	109					0	0	0	0	T	116759690	C	T	116759690	3	4	364	1	0	0	0	0	1	0	0	0	15319	681	24	4	320	4	ST7	7	116759690	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2474885	116759690	42378973	828	69757											
KCND2	3751	broad.mit.edu	37	chr7	120373073	120373073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgtatccaacttcagtcGcatctaccaccagaatcaac	13	10	5	13	1	3	1	2	0	1	1	5	2	4	1	3	0	3	2	3	0	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:120373073G>T	ENST00000331113.4	+	2	2197	c.1232G>T	c.(1231-1233)cGc>cTc	p.R411L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	411					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AACTTCAGTCGCATCTACCAC	0.458													21	56					9.62636e-23	1.00148e-22	1	0	T	120373073	G	T	120373073	3	4	364	1	0	0	0	0	1	0	0	0	8072	1087	38	3	1238	3	KCND2	7	120373073	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3613383	120373073	38765590	829	69758											
ING3	54556	broad.mit.edu	37	chr7	120608018	120608018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taataattccacagcctcttCtaacaatgcctacaatgtga	14	12	4	11	0	2	1	0	1	2	0	3	1	3	1	3	0	4	0	3	0	6	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:120608018C>T	ENST00000315870.5	+	8	735	c.587C>T	c.(586-588)tCt>tTt	p.S196F	ING3_ENST00000431467.1_Missense_Mutation_p.S181F	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	196					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACAGCCTCTTCTAACAATGCC	0.388													11	119					0	0	0	0	T	120608018	C	T	120608018	3	4	364	1	0	0	0	0	1	0	0	0	7790	913	32	2	633	2	ING3	7	120608018	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	234945	120608018	38530645	830	69759											
PTPRZ1	5803	broad.mit.edu	37	chr7	121695040	121695041	+	Frame_Shift_Ins	INS	-	-	AT																															aaataaagatgagcctataaINSattgtgagagctttaaggtc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:121695040_121695041insAT	ENST00000393386.2	+	27	6838_6839	c.6427_6428insAT	c.(6427-6429)ttgfs	p.L2143fs	PTPRZ1_ENST00000449182.1_Frame_Shift_Ins_p.L1276fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2143	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAGCCTATAAATTGTGAGAGC	0.332													42	102	---	---	---	---					AT	121695041	-	AT	121695040	7	5	364	1	0	1	1	0	0	0	0	0	12896	14	1	0	6533	0	PTPRZ1	7	121695040	Frame_Shift_Ins	INS	-	TCGA-D6-6516-01A-11D-1870-08	1087022	121695040	37443623	831	69760											
LMOD2	442721	broad.mit.edu	37	chr7	123302483	123302483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgagtccaacttcataacGggaaaggggatcctggccat	11	8	12	10	2	1	0	1	0	0	0	4	3	3	2	3	4	2	0	3	4	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:123302483G>A	ENST00000458573.2	+	2	1000	c.843G>A	c.(841-843)acG>acA	p.T281T	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	281						cytoskeleton	actin binding|tropomyosin binding										ACTTCATAACGGGAAAGGGGA	0.552													32	43					0	0	0	0	A	123302483	G	A	123302483	2	1	364	1	0	0	0	0	0	0	0	1	8912	1103	39	1		1	LMOD2	7	123302483	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1607443	123302483	35836180	832	69761											
GRM8	2918	broad.mit.edu	37	chr7	126086395	126086395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgaagcacttaaactcatgGagacagtaagtgttgttgtc	12	12	10	7	0	1	2	1	1	0	1	2	3	1	2	0	1	2	4	0	1	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:126086395G>A	ENST00000339582.2	-	10	3270	c.2462C>T	c.(2461-2463)tCc>tTc	p.S821F	GRM8_ENST00000444921.2_Missense_Mutation_p.S821F|GRM8_ENST00000358373.3_Missense_Mutation_p.S821F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	821					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TAAACTCATGGAGACAGTAAG	0.368										HNSCC(24;0.065)			11	37					0	0	0	0	A	126086395	G	A	126086395	3	1	364	1	0	0	0	0	1	0	0	0	6853	1174	41	2	322	2	GRM8	7	126086395	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2783912	126086395	33052268	833	69762											
GRM8	2918	broad.mit.edu	37	chr7	126410011	126410011	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtatccagggcagagaTctttgtgcatattgtgcagg	10	12	12	7	0	1	1	0	0	1	1	2	2	2	1	1	2	2	4	1	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:126410011T>A	ENST00000339582.2	-	7	2073	c.1265A>T	c.(1264-1266)gAt>gTt	p.D422V	GRM8_ENST00000405249.1_Missense_Mutation_p.D422V|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.D422V|GRM8_ENST00000358373.3_Missense_Mutation_p.D422V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	422					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGGGCAGAGATCTTTGTGCAT	0.413										HNSCC(24;0.065)			18	60					0	0	0	0	A	126410011	T	A	126410011	3	1	364	1	0	0	0	0	1	0	0	0	6853	1435	50	5	1531	5	GRM8	7	126410011	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	323616	126410011	32728652	834	69763											
GRM8	2918	broad.mit.edu	37	chr7	126410053	126410053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtaagccatggaatatacaGcatcaattacaaattggacc	16	9	7	9	1	1	0	1	0	0	0	1	2	1	2	2	2	4	2	2	2	7	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:126410053G>A	ENST00000339582.2	-	7	2031	c.1223C>T	c.(1222-1224)gCt>gTt	p.A408V	GRM8_ENST00000405249.1_Missense_Mutation_p.A408V|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.A408V|GRM8_ENST00000358373.3_Missense_Mutation_p.A408V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	408					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGAATATACAGCATCAATTAC	0.423										HNSCC(24;0.065)			13	37					0	0	0	0	A	126410053	G	A	126410053	3	1	364	1	0	0	0	0	1	0	0	0	6853	971	34	4	1573	4	GRM8	7	126410053	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	42	126410053	32728610	835	69764											
CCDC136	64753	broad.mit.edu	37	chr7	128446882	128446882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcacctcagggatacGgtggcctccttcaaagagag	10	7	12	12	1	2	1	2	0	0	1	3	3	3	2	3	3	3	2	3	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:128446882G>A	ENST00000297788.4	+	9	1756	c.1389G>A	c.(1387-1389)acG>acA	p.T463T	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Silent_p.T410T	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	463						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TCAGGGATACGGTGGCCTCCT	0.552													9	17					0	0	0	0	A	128446882	G	A	128446882	2	1	364	1	0	0	0	0	0	0	0	1	2795	1103	39	1		1	CCDC136	7	128446882	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2036829	128446882	30691781	836	69765											
FLNC	2318	broad.mit.edu	37	chr7	128480173	128480173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcaaggtgtttaccaaggGtgccggcagcggggagctca	8	8	15	10	2	2	0	2	0	0	0	2	1	2	1	2	5	4	3	2	5	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:128480173G>A	ENST00000325888.8	+	9	1769	c.1508G>A	c.(1507-1509)gGt>gAt	p.G503D	FLNC_ENST00000346177.6_Missense_Mutation_p.G503D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	503					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						TTTACCAAGGGTGCCGGCAGC	0.637													52	90					0	0	0	0	A	128480173	G	A	128480173	3	1	364	1	0	0	0	0	1	0	0	0	5980	1261	44	4	1542	4	FLNC	7	128480173	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	33291	128480173	30658490	837	69766											
IRF5	3663	broad.mit.edu	37	chr7	128582178	128582178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaccccaccccgccgcGtgcggctgaagccctggctg	4	5	11	21	4	0	1	0	1	0	0	1	1	1	1	7	2	2	2	7	2	1	0	rs142800920		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:128582178G>A	ENST00000402030.2	+	2	115	c.43G>A	c.(43-45)Gtg>Atg	p.V15M	IRF5_ENST00000477535.1_Missense_Mutation_p.V15M|IRF5_ENST00000357234.5_Missense_Mutation_p.V15M|IRF5_ENST00000249375.4_Missense_Mutation_p.V15M|IRF5_ENST00000473745.1_Missense_Mutation_p.V15M	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	15					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						ACCCCGCCGCGTGCGGCTGAA	0.622													11	60					0	0	0	0	A	128582178	G	A	128582178	3	1	364	1	0	0	0	0	1	0	0	0	7886	1145	40	1	45	1	IRF5	7	128582178	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	102005	128582178	30556485	838	69767											
PODXL	5420	broad.mit.edu	37	chr7	131190752	131190752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagcggtcctcggcctcctCcggtggcccctggtccccta	3	8	12	18	3	0	0	0	0	0	0	5	1	4	0	8	5	1	0	8	5	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:131190752C>T	ENST00000541194.1	-	8	1617	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	PODXL_ENST00000537928.1_Missense_Mutation_p.E420K|PODXL_ENST00000322985.9_Missense_Mutation_p.E420K|PODXL_ENST00000378555.3_Missense_Mutation_p.E452K	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	452					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TCGGCCTCCTCCGGTGGCCCC	0.647													4	24					0	0	0	0	T	131190752	C	T	131190752	3	4	364	1	0	0	0	0	1	0	0	0	12252	864	30	2	330	2	PODXL	7	131190752	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2608574	131190752	27947911	839	69768											
PODXL	5420	broad.mit.edu	37	chr7	131196154	131196154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacactggatgctggagtcgGtgctgttttgttagatgagt	7	14	15	5	1	0	2	0	1	0	1	1	5	0	4	0	3	2	4	0	3	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:131196154G>A	ENST00000541194.1	-	2	402	c.145C>T	c.(145-147)Ccg>Tcg	p.P49S	PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000537928.1_Missense_Mutation_p.P47S|PODXL_ENST00000322985.9_Missense_Mutation_p.P47S|PODXL_ENST00000378555.3_Missense_Mutation_p.P47S	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	47	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GCTGGAGTCGGTGCTGTTTTG	0.527													27	109					0	0	0	0	A	131196154	G	A	131196154	3	1	364	1	0	0	0	0	1	0	0	0	12252	1261	44	4	1569	4	PODXL	7	131196154	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5402	131196154	27942509	840	69769											
PLXNA4	91584	broad.mit.edu	37	chr7	131866195	131866195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggattcctgagggaccaaagGcctcaaacaccgggttggga	11	6	14	10	1	1	1	1	1	0	0	2	4	2	4	4	5	1	1	4	5	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:131866195G>T	ENST00000359827.3	-	18	4399	c.3437C>A	c.(3436-3438)gCc>gAc	p.A1146D	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1146D			Q9HCM2	PLXA4_HUMAN	plexin A4	1146	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGACCAAAGGCCTCAAACAC	0.582													57	115					1.00798e-23	1.04906e-23	1	0	T	131866195	G	T	131866195	3	4	364	1	0	0	0	0	1	0	0	0	12194	1203	42	4	2307	4	PLXNA4	7	131866195	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	670041	131866195	27272468	841	69770											
LRGUK	136332	broad.mit.edu	37	chr7	133812343	133812343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctatcaggagctggactcgGacggagatgaggaccagggc	10	5	17	9	2	1	2	1	1	0	1	2	7	1	6	1	6	1	2	1	6	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:133812343G>A	ENST00000285928.2	+	1	292	c.223G>A	c.(223-225)Gac>Aac	p.D75N	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	75							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GCTGGACTCGGACGGAGATGA	0.597													9	56					0	0	0	0	A	133812343	G	A	133812343	3	1	364	1	0	0	0	0	1	0	0	0	9007	1174	41	2	225	2	LRGUK	7	133812343	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1946148	133812343	25326320	842	69771											
CNOT4	4850	broad.mit.edu	37	chr7	135123021	135123021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatatcatctatctccaagGgctccatgcaaagagggcac	12	9	9	11	0	3	2	1	1	2	1	5	2	4	2	2	2	1	3	2	2	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:135123021G>A	ENST00000428680.2	-	2	338	c.59C>T	c.(58-60)cCc>cTc	p.P20L	CNOT4_ENST00000315544.5_Missense_Mutation_p.P20L|CNOT4_ENST00000414802.1_Missense_Mutation_p.P20L|CNOT4_ENST00000541284.1_Missense_Mutation_p.P20L|CNOT4_ENST00000356162.4_Missense_Mutation_p.P20L|CNOT4_ENST00000423368.2_Missense_Mutation_p.P20L|CNOT4_ENST00000361528.4_Missense_Mutation_p.P20L|CNOT4_ENST00000451834.1_Missense_Mutation_p.P20L	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	20					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TATCTCCAAGGGCTCCATGCA	0.433													16	33					0	0	0	0	A	135123021	G	A	135123021	3	1	364	1	0	0	0	0	1	0	0	0	3651	1232	43	4	2005	4	CNOT4	7	135123021	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1310678	135123021	24015642	843	69772											
NUP205	23165	broad.mit.edu	37	chr7	135292093	135292093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtggcggtgcgagaatctCctcagctggctgagctatgt	7	10	14	10	2	2	2	1	1	1	1	3	3	2	2	1	3	3	3	1	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:135292093C>T	ENST00000285968.6	+	22	3195	c.3169C>T	c.(3169-3171)Cct>Tct	p.P1057S		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1057					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCGAGAATCTCCTCAGCTGGC	0.502													10	44					0	0	0	0	T	135292093	C	T	135292093	3	4	364	1	0	0	0	0	1	0	0	0	10830	855	30	2	3255	2	NUP205	7	135292093	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	169072	135292093	23846570	844	69773											
DGKI	9162	broad.mit.edu	37	chr7	137154314	137154314	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	accatctaggaagcaccaccGaggagagagcctctgtgctg	11	6	12	12	1	2	1	0	0	2	1	2	5	2	3	4	2	3	2	4	2	2	1	rs150062419		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:137154314G>C	ENST00000453654.1	-	25	2118	c.1579C>G	c.(1579-1581)Cgg>Ggg	p.R527G	DGKI_ENST00000446122.1_Missense_Mutation_p.R809G|DGKI_ENST00000424189.2_Missense_Mutation_p.R830G|DGKI_ENST00000288490.5_Missense_Mutation_p.R827G			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	827					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AAGCACCACCGAGGAGAGAGC	0.522													26	56					0	0	0	0	C	137154314	G	C	137154314	3	2	364	1	0	0	0	0	1	0	0	0	4508	1057	37	3	758	3	DGKI	7	137154314	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1862221	137154314	21984349	845	69774											
TRPV6	55503	broad.mit.edu	37	chr7	142570156	142570156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcggtctcccaggccatactCccgtccgcagatcccggagc	6	6	11	18	4	1	1	0	0	1	1	5	2	4	2	5	3	2	1	5	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:142570156C>T	ENST00000359396.3	-	14	2109	c.1864G>A	c.(1864-1866)Gag>Aag	p.E622K		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	622					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGGCCATACTCCCGTCCGCAG	0.627													7	29					0	0	0	0	T	142570156	C	T	142570156	3	4	364	1	0	0	0	0	1	0	0	0	16695	864	30	2	321	2	TRPV6	7	142570156	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5415842	142570156	16568507	846	69775											
TRPV6	55503	broad.mit.edu	37	chr7	142574508	142574508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacccagggagtcctgggcCcggatgtcagctccatgctc	6	9	12	14	1	1	0	1	0	0	0	4	2	3	2	4	3	3	2	4	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:142574508C>T	ENST00000359396.3	-	5	815	c.570G>A	c.(568-570)cgG>cgA	p.R190R	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	190					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGTCCTGGGCCCGGATGTCAG	0.607													22	58					0	0	0	0	T	142574508	C	T	142574508	2	4	364	1	0	0	0	0	0	0	0	1	16695	610	22	4		4	TRPV6	7	142574508	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4352	142574508	16564155	847	69776											
OR6V1	346517	broad.mit.edu	37	chr7	142749631	142749631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcttcctgggcaatttttCcctgctggagatcttggtaa	6	16	9	10	0	2	1	0	0	2	1	4	2	4	1	2	3	1	3	2	3	2	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:142749631C>T	ENST00000418316.1	+	1	215	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GGCAATTTTTCCCTGCTGGAG	0.493													105	176					0	0	0	0	T	142749631	C	T	142749631	3	4	364	1	0	0	0	0	1	0	0	0	11282	855	30	2	196	2	OR6V1	7	142749631	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	175123	142749631	16389032	848	69777											
FAM131B	9715	broad.mit.edu	37	chr7	143053832	143053832	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctcctcctcagcagggccCcttgccaggtccactgcgcc	4	9	9	19	1	2	0	1	0	1	0	5	0	4	0	7	2	3	1	7	2	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143053832C>T	ENST00000409408.1	-	6	2518	c.810G>A	c.(808-810)agG>agA	p.R270R	FAM131B_ENST00000409346.1_Silent_p.R270R|FAM131B_ENST00000409578.1_Silent_p.R286R|FAM131B_ENST00000443739.2_Silent_p.R298R|FAM131B_ENST00000409222.3_Silent_p.R270R			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	270										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CAGCAGGGCCCCTTGCCAGGT	0.627													30	144					0	0	0	0	T	143053832	C	T	143053832	2	4	364	1	0	0	0	0	0	0	0	1	5481	622	22	4		4	FAM131B	7	143053832	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	304201	143053832	16084831	849	69778											
ZYX	7791	broad.mit.edu	37	chr7	143085984	143085984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcccgccccctggagggcaCctccttcatcgtggaccagg	5	6	12	18	3	1	0	1	0	0	0	3	2	2	2	6	4	0	1	6	4	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143085984C>T	ENST00000322764.5	+	8	1784	c.1439C>T	c.(1438-1440)aCc>aTc	p.T480I	ZYX_ENST00000449423.2_Missense_Mutation_p.T393I|ZYX_ENST00000392910.2_Missense_Mutation_p.T323I	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	480	LIM zinc-binding 2.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CTGGAGGGCACCTCCTTCATC	0.667													13	86					0	0	0	0	T	143085984	C	T	143085984	3	4	364	1	0	0	0	0	1	0	0	0	18345	507	18	4	1465	4	ZYX	7	143085984	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	32152	143085984	16052679	850	69779											
TAS2R60	338398	broad.mit.edu	37	chr7	143140716	143140716	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttgttgccttgtgataaGttattggttagcctaggggc	7	16	13	5	0	0	1	0	1	0	0	0	1	0	1	2	3	2	4	2	3	4	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143140716G>A	ENST00000332690.1	+	1	171	c.171G>A	c.(169-171)aaG>aaA	p.K57K	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	57					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTTGTGATAAGTTATTGGTTA	0.498													35	69					0	0	0	0	A	143140716	G	A	143140716	2	1	364	1	0	0	0	0	0	0	0	1	15676	1020	36	4		4	TAS2R60	7	143140716	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	54732	143140716	15997947	851	69780											
TAS2R60	338398	broad.mit.edu	37	chr7	143141134	143141134	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaattctatctcttccctCtaaaaatgattacttggaca	14	14	4	9	0	3	2	0	1	3	1	5	3	4	3	1	1	1	0	1	1	6	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143141134C>T	ENST00000332690.1	+	1	589	c.589C>T	c.(589-591)Cta>Tta	p.L197L	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	197					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTCTTCCCTCTAAAAATGAT	0.418													62	155					0	0	0	0	T	143141134	C	T	143141134	2	4	364	1	0	0	0	0	0	0	0	1	15676	912	32	2		2	TAS2R60	7	143141134	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	418	143141134	15997529	852	69781											
FAM115A	9747	broad.mit.edu	37	chr7	143573412	143573412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttggccaaaggtgccaggGatgggtgtacaccaatggga	10	9	15	7	0	0	0	0	0	0	0	0	2	0	2	3	5	2	1	3	5	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143573412G>A	ENST00000479870.1	-	2	498	c.290C>T	c.(289-291)tCc>tTc	p.S97F	FAM115A_ENST00000355951.2_Missense_Mutation_p.S97F|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	97										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					AGGTGCCAGGGATGGGTGTAC	0.562													19	77					0	0	0	0	A	143573412	G	A	143573412	3	1	364	1	0	0	0	0	1	0	0	0	5446	1174	41	2	2507	2	FAM115A	7	143573412	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	432278	143573412	15565251	853	69782											
CNTNAP2	26047	broad.mit.edu	37	chr7	146825806	146825806	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taacctttggaggcatccctTtctctggcaagcccagctcc	7	11	8	15	0	1	0	0	0	1	0	4	1	3	1	4	3	3	3	4	3	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:146825806T>A	ENST00000361727.3	+	7	1477	c.961T>A	c.(961-963)Ttc>Atc	p.F321I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	321	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGCATCCCTTTCTCTGGCAA	0.393										HNSCC(39;0.1)			18	108					0	0	0	0	A	146825806	T	A	146825806	3	1	364	1	0	0	0	0	1	0	0	0	3677	1841	64	5	987	5	CNTNAP2	7	146825806	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	3252394	146825806	12312857	854	69783											
CNTNAP2	26047	broad.mit.edu	37	chr7	148112610	148112610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accataccaacgaagcaaagGgggcggagtcggcagagagc	14	2	15	10	3	0	1	0	0	0	1	1	4	0	2	2	4	4	2	2	4	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:148112610G>A	ENST00000361727.3	+	24	4414	c.3898G>A	c.(3898-3900)Ggg>Agg	p.G1300R	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.G359R|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1300					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGAAGCAAAGGGGGCGGAGTC	0.542										HNSCC(39;0.1)			13	73					0	0	0	0	A	148112610	G	A	148112610	3	1	364	1	0	0	0	0	1	0	0	0	3677	1232	43	4	3992	4	CNTNAP2	7	148112610	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1286804	148112610	11026053	855	69784											
ZNF282	8427	broad.mit.edu	37	chr7	148909480	148909480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctgcccaggacctcttgtCccggattaaacaggaggagc	9	9	11	12	1	2	0	0	0	2	0	3	4	3	4	3	4	3	0	3	4	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:148909480C>T	ENST00000262085.3	+	6	1088	c.983C>T	c.(982-984)tCc>tTc	p.S328F	ZNF282_ENST00000479907.1_Missense_Mutation_p.S328F	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	328					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GACCTCTTGTCCCGGATTAAA	0.498													10	26					0	0	0	0	T	148909480	C	T	148909480	3	4	364	1	0	0	0	0	1	0	0	0	17914	855	30	2	1005	2	ZNF282	7	148909480	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	796870	148909480	10229183	856	69785											
SSPO	23145	broad.mit.edu	37	chr7	149477972	149477972	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgatgggcggagctactcCttctggggtggtcaaggttg	5	12	16	8	2	2	0	1	0	1	0	4	2	3	1	1	6	2	2	1	6	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:149477972C>T	ENST00000378016.2	+	0	1743							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGCTACTCCTTCTGGGGTG	0.677													6	39					0	0	0	0	T	149477972	C	T	149477972	1	4	364	0	1	0	0	0	0	0	0	0	15279	668	24	4		4	SSPO	7	149477972	RNA	SNP	C	TCGA-D6-6516-01A-11D-1870-08	568492	149477972	9660691	857	69786											
SSPO	23145	broad.mit.edu	37	chr7	149494381	149494381	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccattccacagccaagacCctggccctctcctctgccca	7	9	5	20	0	2	1	0	0	2	1	5	1	4	1	7	1	2	0	7	1	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:149494381C>T	ENST00000378016.2	+	0	6852							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCCAAGACCCTGGCCCTCT	0.662													6	52					0	0	0	0	T	149494381	C	T	149494381	1	4	364	0	1	0	0	0	0	0	0	0	15279	610	22	4		4	SSPO	7	149494381	RNA	SNP	C	TCGA-D6-6516-01A-11D-1870-08	16409	149494381	9644282	858	69787											
GIMAP1	170575	broad.mit.edu	37	chr7	150417539	150417539	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctaaaatggatggtcatCgtcttcaccaggaaggagga	12	9	12	8	1	3	0	2	0	1	0	5	4	4	4	2	5	0	0	2	5	3	2	rs150494282	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150417539C>T	ENST00000307194.5	+	3	587	c.447C>T	c.(445-447)atC>atT	p.I149I		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGATGGTCATCGTCTTCACCA	0.642													8	70					0	0	0	0	T	150417539	C	T	150417539	2	4	364	1	0	0	0	0	0	0	0	1	6430	874	31	1		1	GIMAP1	7	150417539	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	923158	150417539	8721124	859	69788											
KCNH2	3757	broad.mit.edu	37	chr7	150654554	150654554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgaggtcggagtccgaggtgGagttgagcaagccgctgcgc	7	6	18	10	5	0	1	0	1	0	0	2	5	1	3	2	4	3	3	2	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150654554G>A	ENST00000392968.2	-	3	1785	c.665C>T	c.(664-666)tCc>tTc	p.S222F	KCNH2_ENST00000430723.3_Missense_Mutation_p.S318F|KCNH2_ENST00000262186.5_Missense_Mutation_p.S318F			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	318					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTCCGAGGTGGAGTTGAGCAA	0.642													7	33					0	0	0	0	A	150654554	G	A	150654554	3	1	364	1	0	0	0	0	1	0	0	0	8085	1174	41	2	2951	2	KCNH2	7	150654554	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	237015	150654554	8484109	860	69789											
FASTK	10922	broad.mit.edu	37	chr7	150774982	150774982	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaccactgatgtagttgatGaagccaggggaaaaaacaaa	17	7	11	6	0	0	3	0	3	0	0	0	4	0	4	2	2	3	3	2	2	7	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150774982G>A	ENST00000297532.6	-	5	1100	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	FASTK_ENST00000482571.1_Silent_p.F314F|FASTK_ENST00000353841.2_Silent_p.F200F|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000540185.1_3'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	341					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		TGTAGTTGATGAAGCCAGGGG	0.622													8	55					0	0	0	0	A	150774982	G	A	150774982	2	1	364	1	0	0	0	0	0	0	0	1	5729	1281	45	2		2	FASTK	7	150774982	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	120428	150774982	8363681	861	69790											
CHPF2	54480	broad.mit.edu	37	chr7	150934782	150934782	+	Missense_Mutation	SNP	C	C	T																															agcacggggcatggagtacaCcctggacctgctgttggaat																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150934782C>T	ENST00000035307.2	+	4	2847	c.1334C>T	c.(1333-1335)aCc>aTc	p.T445I	CHPF2_ENST00000495645.1_Missense_Mutation_p.T437I	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	445						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						ATGGAGTACACCCTGGACCTG	0.657													12	62					0	0	0	0	T	150934782	C	T	150934782	3	4	364	1	0	0	0	0	1	0	0	0	3398	507	18	4	1348	4	CHPF2	7	150934782	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	159800	150934782	8203881	862	69791	892	2									
CHPF2	54480	broad.mit.edu	37	chr7	150934783	150934783	+	Silent	SNP	C	C	T																															gcacggggcatggagtacacCctggacctgctgttggaatg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150934783C>T	ENST00000035307.2	+	4	2848	c.1335C>T	c.(1333-1335)acC>acT	p.T445T	CHPF2_ENST00000495645.1_Silent_p.T437T	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	445						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGGAGTACACCCTGGACCTGC	0.657													12	64					0	0	0	0	T	150934783	C	T	150934783	2	4	364	1	0	0	0	0	0	0	0	1	3398	610	22	4		4	CHPF2	7	150934783	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	150934783	8203880	863	69792	892	2									
WDR86	349136	broad.mit.edu	37	chr7	151093194	151093194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgcggtggccccggaactCccgggacatctgccccttgt	4	9	13	15	3	1	0	0	0	1	0	2	2	2	2	5	4	3	1	5	4	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:151093194C>T	ENST00000334493.6	-	3	824	c.394G>A	c.(394-396)Gag>Aag	p.E132K	WDR86_ENST00000469830.2_Missense_Mutation_p.E132K|WDR86_ENST00000477459.1_Missense_Mutation_p.E4K	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	132										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCGGAACTCCCGGGACATC	0.677													8	35					0	0	0	0	T	151093194	C	T	151093194	3	4	364	1	0	0	0	0	1	0	0	0	17430	864	30	2	752	2	WDR86	7	151093194	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	158411	151093194	8045469	864	69793											
DPP6	1804	broad.mit.edu	37	chr7	154598806	154598806	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccatagcatggacttcttCctgctcaagtgcgaaggtca	10	10	10	11	1	3	0	2	0	1	0	4	2	4	1	2	2	4	2	2	2	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:154598806C>T	ENST00000404039.1	+	16	2045	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	DPP6_ENST00000332007.3_Silent_p.F488F|DPP6_ENST00000377770.3_Silent_p.F550F|DPP6_ENST00000427557.1_Silent_p.F443F	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	550					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGGACTTCTTCCTGCTCAAGT	0.602													24	101					0	0	0	0	T	154598806	C	T	154598806	2	4	364	1	0	0	0	0	0	0	0	1	4766	854	30	2		2	DPP6	7	154598806	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3505612	154598806	4539857	865	69794											
WDR60	55112	broad.mit.edu	37	chr7	158672676	158672676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgagcccaggaaaagggaatCccaggtaccccttctgatgc	11	7	11	12	0	1	2	0	2	1	0	2	4	2	4	4	3	3	1	4	3	4	2	rs17856461		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:158672676C>T	ENST00000407559.3	+	5	1033	c.875C>T	c.(874-876)tCc>tTc	p.S292F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	292				S -> F (in Ref. 2; AAH14491).						NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAAGGGAATCCCAGGTACCC	0.527													10	51					0	0	0	0	T	158672676	C	T	158672676	3	4	364	1	0	0	0	0	1	0	0	0	17407	855	30	2	893	2	WDR60	7	158672676	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4073870	158672676	465987	866	69795											
MYOM2	9172	broad.mit.edu	37	chr8	2021531	2021531	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctgtacaccctgcgcatCgtgtctcggggcggcgtcag	4	8	15	14	5	2	0	1	0	1	0	4	0	2	0	2	4	2	2	2	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:2021531C>T	ENST00000262113.4	+	10	1212	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	357	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCCTGCGCATCGTGTCTCGGG	0.627													23	35					0	0	0	0	T	2021531	C	T	2021531	2	4	364	1	0	0	0	0	0	0	0	1	10162	874	31	1		1	MYOM2	8	2021531	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08		2021531	144342491	867	69796											
CSMD1	64478	broad.mit.edu	37	chr8	2830813	2830813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggatcaccacagaatccagGattatttcctattgaaaaca	15	10	6	10	1	1	2	1	1	0	1	3	4	3	4	3	2	1	0	3	2	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:2830813G>A	ENST00000520002.1	-	58	9307	c.8752C>T	c.(8752-8754)Cct>Tct	p.P2918S	CSMD1_ENST00000537824.1_Missense_Mutation_p.P2917S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2859S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2860S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2860S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2918S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2918						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGAATCCAGGATTATTTCCT	0.428													87	160					0	0	0	0	A	2830813	G	A	2830813	3	1	364	1	0	0	0	0	1	0	0	0	3976	1174	41	2	2001	2	CSMD1	8	2830813	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	809282	2830813	143533209	868	69797											
CSMD1	64478	broad.mit.edu	37	chr8	3019763	3019763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgattttgatgctgttgctgGggagggctggttcttggcat	4	15	16	6	1	1	1	0	1	1	0	1	3	1	2	0	5	2	6	0	5	0	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:3019763G>A	ENST00000520002.1	-	39	6320	c.5765C>T	c.(5764-5766)cCc>cTc	p.P1922L	CSMD1_ENST00000537824.1_Missense_Mutation_p.P1921L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1921L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1922L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1922L|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1921L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1922L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1922	Sushi 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGTTGCTGGGGAGGGCTGG	0.458													9	7					0	0	0	0	A	3019763	G	A	3019763	3	1	364	1	0	0	0	0	1	0	0	0	3976	1232	43	4	5064	4	CSMD1	8	3019763	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	188950	3019763	143344259	869	69798											
CSMD1	64478	broad.mit.edu	37	chr8	3165294	3165294	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacggagctggatagccaggGgacaatattcgtcctgatgt	10	10	13	8	2	0	1	0	1	0	0	2	4	1	4	2	4	3	1	2	4	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:3165294G>A	ENST00000520002.1	-	26	4431	c.3876C>T	c.(3874-3876)tcC>tcT	p.S1292S	CSMD1_ENST00000537824.1_Silent_p.S1291S|CSMD1_ENST00000542608.1_Silent_p.S1291S|CSMD1_ENST00000400186.3_Silent_p.S1292S|CSMD1_ENST00000602723.1_Silent_p.S1292S|CSMD1_ENST00000539096.1_Silent_p.S1291S|CSMD1_ENST00000602557.1_Silent_p.S1292S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1292	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GATAGCCAGGGGACAATATTC	0.478													26	132					0	0	0	0	A	3165294	G	A	3165294	2	1	364	1	0	0	0	0	0	0	0	1	3976	1219	43	4		4	CSMD1	8	3165294	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	145531	3165294	143198728	870	69799											
SGK223	157285	broad.mit.edu	37	chr8	8235533	8235533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgcccaggtagacgacgGgggcatcctcctgcttcggg	6	7	15	13	3	0	1	0	0	0	1	3	2	2	1	3	4	3	4	3	4	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:8235533G>A	ENST00000520004.1	-	3	650	c.386C>T	c.(385-387)cCc>cTc	p.P129L	SGK223_ENST00000330777.4_Missense_Mutation_p.P129L			Q86YV5	SG223_HUMAN		129							ATP binding|non-membrane spanning protein tyrosine kinase activity										GTAGACGACGGGGGCATCCTC	0.572													27	77					0	0	0	0	A	8235533	G	A	8235533	3	1	364	1	0	0	0	0	1	0	0	0	14297	1232	43	4	3838	4	SGK223	8	8235533	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5070239	8235533	138128489	871	69800											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998678	8998678	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgtcgaacgtcatccttaTtttcacggtcttctcaaatg	8	15	8	10	3	4	0	3	0	2	0	7	1	5	0	1	2	1	0	1	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:8998678T>A	ENST00000310455.3	-	2	634	c.484A>T	c.(484-486)Ata>Tta	p.I162L	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.I162L	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	162	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GTCATCCTTATTTTCACGGTC	0.512													80	122					0	0	0	0	A	8998678	T	A	8998678	3	1	364	1	0	0	0	0	1	0	0	0	12448	1493	52	5	377	5	PPP1R3B	8	8998678	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	763145	8998678	137365344	872	69801											
RP1L1	94137	broad.mit.edu	37	chr8	10465958	10465958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatcttctgactctggctGggcctctccttctgcctctg	3	15	8	15	0	6	1	0	1	6	0	7	1	6	1	3	2	2	1	3	2	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:10465958G>T	ENST00000382483.3	-	4	5873	c.5650C>A	c.(5650-5652)Cag>Aag	p.Q1884K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1884					intracellular signal transduction					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)		GACTCTGGCTGGGCCTCTCCT	0.622													55	303					3.85841e-42	4.02805e-42	1	0	T	10465958	G	T	10465958	3	4	364	1	0	0	0	0	1	0	0	0	13618	1357	47	4	1556	4	RP1L1	8	10465958	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1467280	10465958	135898064	873	69802											
RP1L1	94137	broad.mit.edu	37	chr8	10466645	10466645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcctcgcagggacagaactCctccccctccgcctcctcgc	5	6	9	21	3	0	1	0	0	0	1	6	2	4	2	7	2	1	1	7	2	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:10466645C>T	ENST00000382483.3	-	4	5186	c.4963G>A	c.(4963-4965)Gag>Aag	p.E1655K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1655					intracellular signal transduction					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)		GGACAGAACTCCTCCCCCTCC	0.667													10	61					0	0	0	0	T	10466645	C	T	10466645	3	4	364	1	0	0	0	0	1	0	0	0	13618	864	30	2	2243	2	RP1L1	8	10466645	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	687	10466645	135897377	874	69803											
RP1L1	94137	broad.mit.edu	37	chr8	10470364	10470364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgccactctctctccctggGaggcatgcaggggattcgtc	5	10	12	14	1	2	0	0	0	2	0	6	2	2	2	2	4	2	2	2	4	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:10470364G>A	ENST00000382483.3	-	4	1467	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	415					intracellular signal transduction					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)		CTCTCCCTGGGAGGCATGCAG	0.677													31	46					0	0	0	0	A	10470364	G	A	10470364	3	1	364	1	0	0	0	0	1	0	0	0	13618	1174	41	2	5962	2	RP1L1	8	10470364	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3719	10470364	135893658	875	69804											
FDFT1	2222	broad.mit.edu	37	chr8	11667353	11667353	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgccaggtgctggaggacttCccaacggtgagtggggttac	7	8	16	10	2	0	1	0	1	0	0	1	3	1	3	2	6	3	2	2	6	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:11667353C>T	ENST00000220584.4	+	3	597	c.375C>T	c.(373-375)ttC>ttT	p.F125F	FDFT1_ENST00000538689.1_Silent_p.F14F|FDFT1_ENST00000528643.1_Silent_p.F40F|FDFT1_ENST00000525777.1_Silent_p.F40F|FDFT1_ENST00000530664.1_Silent_p.F61F|FDFT1_ENST00000525900.1_Silent_p.F118F|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000443614.2_Silent_p.F125F|FDFT1_ENST00000528812.1_Silent_p.F61F	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	125					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TGGAGGACTTCCCAACGGTGA	0.502													7	31					0	0	0	0	T	11667353	C	T	11667353	2	4	364	1	0	0	0	0	0	0	0	1	5847	854	30	2		2	FDFT1	8	11667353	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1196989	11667353	134696669	876	69805											
MSR1	4481	broad.mit.edu	37	chr8	16026297	16026297	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcttcgctgtcatttccTtttcccgtgagactttgagt	4	18	7	12	2	2	2	1	2	1	1	6	3	5	2	3	0	0	1	3	0	0	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:16026297T>A	ENST00000350896.3	-	4	497	c.300A>T	c.(298-300)aaA>aaT	p.K100N	MSR1_ENST00000445506.2_Missense_Mutation_p.K118N|MSR1_ENST00000262101.5_Missense_Mutation_p.K100N|MSR1_ENST00000355282.2_Missense_Mutation_p.K100N|MSR1_ENST00000381998.4_Missense_Mutation_p.K100N|MSR1_ENST00000536385.1_Intron	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	100	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TGTCATTTCCTTTTCCCGTGA	0.373													23	135					0	0	0	0	A	16026297	T	A	16026297	3	1	364	1	0	0	0	0	1	0	0	0	9956	1606	56	5	1131	5	MSR1	8	16026297	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	4358944	16026297	130337725	877	69806											
ZDHHC2	51201	broad.mit.edu	37	chr8	17053076	17053076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caagaggagaagcccatcagGaagttcttaggcgagcagcc	13	5	13	10	1	2	2	1	0	1	2	2	5	2	3	2	3	3	2	2	3	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:17053076G>A	ENST00000262096.8	+	4	1011	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	106						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		AGCCCATCAGGAAGTTCTTAG	0.408													13	62					0	0	0	0	A	17053076	G	A	17053076	3	1	364	1	0	0	0	0	1	0	0	0	17705	1175	41	2	330	2	ZDHHC2	8	17053076	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1026779	17053076	129310946	878	69807											
GFRA2	2675	broad.mit.edu	37	chr8	21562583	21562583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacgacagctgcaccaggggGacaccacgatgccagtgggg	10	3	15	13	2	0	0	0	0	0	0	0	3	0	1	3	4	3	2	3	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:21562583G>A	ENST00000524240.1	-	6	1609	c.959C>T	c.(958-960)tCc>tTc	p.S320F	GFRA2_ENST00000518077.1_Missense_Mutation_p.S187F|GFRA2_ENST00000517328.1_Missense_Mutation_p.S320F|GFRA2_ENST00000400782.4_Missense_Mutation_p.S215F	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	320						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCACCAGGGGGACACCACGAT	0.592													3	14					0	0	0	0	A	21562583	G	A	21562583	3	1	364	1	0	0	0	0	1	0	0	0	6399	1174	41	2	451	2	GFRA2	8	21562583	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4509507	21562583	124801439	879	69808											
NUDT18	79873	broad.mit.edu	37	chr8	21965715	21965715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacggacagcagtgtctcgGgctcacagtgcagccccgcc	7	5	12	17	3	2	0	1	0	1	0	3	1	2	1	4	2	3	3	4	2	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:21965715G>A	ENST00000309188.6	-	4	423	c.305C>T	c.(304-306)cCc>cTc	p.P102L	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Missense_Mutation_p.P25L	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	102	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		CAGTGTCTCGGGCTCACAGTG	0.682													3	16					0	0	0	0	A	21965715	G	A	21965715	3	1	364	1	0	0	0	0	1	0	0	0	10806	1232	43	4	674	4	NUDT18	8	21965715	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	403132	21965715	124398307	880	69809											
SLC39A14	23516	broad.mit.edu	37	chr8	22262322	22262322	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggctcacgcttcatccctGggtgcaccagctatcagcgc	7	8	11	15	2	3	0	3	0	0	0	4	1	4	0	2	2	3	4	2	2	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:22262322G>A	ENST00000359741.5	+	2	274	c.99G>A	c.(97-99)ctG>ctA	p.L33L	SLC39A14_ENST00000289952.5_Silent_p.L33L|SLC39A14_ENST00000240095.6_Silent_p.L33L|SLC39A14_ENST00000381237.1_Silent_p.L33L	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	33			L -> P (in dbSNP:rs896378).			endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CTTCATCCCTGGGTGCACCAG	0.602													22	105					0	0	0	0	A	22262322	G	A	22262322	2	1	364	1	0	0	0	0	0	0	0	1	14705	1335	47	4		4	SLC39A14	8	22262322	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	296607	22262322	124101700	881	69810											
SLC25A37	51312	broad.mit.edu	37	chr8	23429112	23429112	+	Missense_Mutation	SNP	C	C	T																															cgccgcggccgccacgacccCcctggacgtctgtaagaccc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:23429112C>T	ENST00000519973.1	+	4	959	c.761C>T	c.(760-762)cCc>cTc	p.P254L		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	254					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GCCACGACCCCCCTGGACGTC	0.672													3	25					0	0	0	0	T	23429112	C	T	23429112	3	4	364	1	0	0	0	0	1	0	0	0	14589	623	22	4	775	4	SLC25A37	8	23429112	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1166790	23429112	122934910	882	69811	893	2									
SLC25A37	51312	broad.mit.edu	37	chr8	23429113	23429113	+	Silent	SNP	C	C	T																															gccgcggccgccacgaccccCctggacgtctgtaagaccct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:23429113C>T	ENST00000519973.1	+	4	960	c.762C>T	c.(760-762)ccC>ccT	p.P254P		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	254					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CCACGACCCCCCTGGACGTCT	0.672													3	25					0	0	0	0	T	23429113	C	T	23429113	2	4	364	1	0	0	0	0	0	0	0	1	14589	610	22	4		4	SLC25A37	8	23429113	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	23429113	122934909	883	69812	893	2									
ADAM7	8756	broad.mit.edu	37	chr8	24324313	24324313	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgttcccaatttctacaggGgattcttcagaataaacgac	12	12	8	9	1	3	1	1	0	2	1	4	3	4	2	1	2	2	1	1	2	5	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:24324313G>A	ENST00000175238.6	+	6	474	c.389_splice	c.e6-1	p.G131_splice	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Splice_Site_p.G131_splice|ADAM7_ENST00000441335.2_Splice_Site_p.G131_splice|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	131					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTCTACAGGGGATTCTTCAG	0.378													11	59					0	0	0	0	A	24324313	G	A	24324313	5	1	364	1	0	0	0	0	0	0	1	0	251	1246	43	4	413	4	ADAM7	8	24324313	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	895200	24324313	122039709	884	69813											
ADAM7	8756	broad.mit.edu	37	chr8	24350689	24350689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaactatttttttataccatGattctacagacattggcctg	12	16	5	8	0	1	2	0	1	1	1	1	2	1	2	2	1	3	0	2	1	5	9			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:24350689G>A	ENST00000175238.6	+	16	1872	c.1789G>A	c.(1789-1791)Gat>Aat	p.D597N	ADAM7_ENST00000520720.1_Missense_Mutation_p.D369N|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D597N|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	597	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTATACCATGATTCTACAGA	0.403													18	36					0	0	0	0	A	24350689	G	A	24350689	3	1	364	1	0	0	0	0	1	0	0	0	251	1290	45	2	1851	2	ADAM7	8	24350689	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	26376	24350689	122013333	885	69814											
SCARA3	51435	broad.mit.edu	37	chr8	27516190	27516190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccaccagcagacaaatctCccaggagatgggcagttgct	12	6	10	13	0	1	2	0	0	1	2	2	3	1	2	3	2	2	4	3	2	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:27516190C>T	ENST00000301904.3	+	5	523	c.503C>T	c.(502-504)tCc>tTc	p.S168F	SCARA3_ENST00000337221.4_Missense_Mutation_p.S168F	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	168					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		AGACAAATCTCCCAGGAGATG	0.612													10	57					0	0	0	0	T	27516190	C	T	27516190	3	4	364	1	0	0	0	0	1	0	0	0	13965	855	30	2	521	2	SCARA3	8	27516190	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3165501	27516190	118847832	886	69815											
EXTL3	2137	broad.mit.edu	37	chr8	28574958	28574958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaagtcggtgccgtccCggtggtgctgggggagcagg	4	7	20	10	3	0	0	0	0	0	0	2	2	1	2	3	7	3	2	3	7	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:28574958C>T	ENST00000220562.4	+	3	2284	c.1382C>T	c.(1381-1383)cCg>cTg	p.P461L	EXTL3_ENST00000523149.1_Missense_Mutation_p.P77L|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	461						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGTGCCGTCCCGGTGGTGCTG	0.622													15	32					0	0	0	0	T	28574958	C	T	28574958	3	4	364	1	0	0	0	0	1	0	0	0	5365	652	23	1	1384	1	EXTL3	8	28574958	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1058768	28574958	117789064	887	69816											
UNC5D	137970	broad.mit.edu	37	chr8	35583804	35583804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactctttaaccctttgtcgGacatcaaagtgaaagtccag	12	11	7	11	1	2	1	1	1	1	0	4	2	3	2	2	1	1	0	2	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:35583804G>A	ENST00000287272.2	+	9	1251	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N	UNC5D_ENST00000449677.1_Missense_Mutation_p.D56N|UNC5D_ENST00000404895.2_Missense_Mutation_p.D480N|UNC5D_ENST00000416672.1_Missense_Mutation_p.D485N|UNC5D_ENST00000420357.1_Missense_Mutation_p.D413N|UNC5D_ENST00000453357.2_Missense_Mutation_p.D475N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	480					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCCTTTGTCGGACATCAAAGT	0.522													7	30					0	0	0	0	A	35583804	G	A	35583804	3	1	364	1	0	0	0	0	1	0	0	0	17091	1174	41	2	1476	2	UNC5D	8	35583804	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	7008846	35583804	110780218	888	69817											
KCNU1	157855	broad.mit.edu	37	chr8	36644890	36644890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacttccagggacaatttCgtgatcatatagaaatgttg	12	13	8	8	1	1	2	1	1	0	1	4	3	3	3	2	1	0	1	2	1	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:36644890C>T	ENST00000399881.3	+	2	299	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	88						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GGGACAATTTCGTGATCATAT	0.428													9	24					0	0	0	0	T	36644890	C	T	36644890	3	4	364	1	0	0	0	0	1	0	0	0	8146	884	31	1	268	1	KCNU1	8	36644890	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1061086	36644890	109719132	889	69818											
SFRP1	6422	broad.mit.edu	37	chr8	41164271	41164271	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaggagtggaggtgagTgaggacggttccaagccagg	9	6	20	6	1	0	2	0	2	0	0	1	6	1	6	2	7	1	1	2	7	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:41164271T>A	ENST00000379845.3	-	1	238	c.106A>T	c.(106-108)Act>Tct	p.T36S	SFRP1_ENST00000220772.3_Intron			Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	0					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TGGAGGTGAGTGAGGACGGTT	0.602													4	27					0	0	0	0	A	41164271	T	A	41164271	3	1	364	1	0	0	0	0	1	0	0	0	14248	1711	59	5		5	SFRP1	8	41164271	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	4519381	41164271	105199751	890	69819											
PLAT	5327	broad.mit.edu	37	chr8	42038041	42038041	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggcggcagagagaatcCagcaggagctgatgagtatg	12	6	17	6	1	0	4	0	2	0	2	1	6	1	5	1	3	2	4	1	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:42038041C>T	ENST00000220809.4	-	10	1308	c.1052G>A	c.(1051-1053)tGg>tAg	p.W351*	PLAT_ENST00000524009.1_Nonsense_Mutation_p.W262*|PLAT_ENST00000352041.3_Nonsense_Mutation_p.W305*|PLAT_ENST00000429089.2_Nonsense_Mutation_p.W351*|PLAT_ENST00000429710.2_Nonsense_Mutation_p.W225*|PLAT_ENST00000519510.1_Nonsense_Mutation_p.W288*|PLAT_ENST00000270189.6_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	351	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGAGAGAATCCAGCAGGAGCT	0.607													21	86					0	0	0	0	T	42038041	C	T	42038041	4	4	364	1	0	0	0	0	0	1	0	0	12093	595	21	4	656	4	PLAT	8	42038041	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	873770	42038041	104325981	891	69820											
DKK4	27121	broad.mit.edu	37	chr8	42234519	42234519	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaggaccagagctcccagGggagagcagagccagctcag	11	3	14	13	0	1	3	1	0	0	3	3	5	3	4	4	3	4	3	4	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:42234519G>A	ENST00000220812.2	-	1	231	c.45C>T	c.(43-45)ccC>ccT	p.P15P		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	15					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			GAGCTCCCAGGGGAGAGCAGA	0.657													4	53					0	0	0	0	A	42234519	G	A	42234519	2	1	364	1	0	0	0	0	0	0	0	1	4584	1219	43	4		4	DKK4	8	42234519	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	196478	42234519	104129503	892	69821											
CHRNB3	1142	broad.mit.edu	37	chr8	42585737	42585737	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtgtactaatttcatgcagGaatggacagaccacaagtta	15	10	9	7	0	1	1	1	0	0	1	1	3	1	3	1	2	2	3	1	2	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:42585737G>A	ENST00000289957.2	+	4	378	c.249_splice	c.e4-1	p.E84_splice		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	84					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTTCATGCAGGAATGGACAGA	0.378													23	35					0	0	0	0	A	42585737	G	A	42585737	5	1	364	1	0	0	0	0	0	0	1	0	3421	1188	41	2	264	2	CHRNB3	8	42585737	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	351218	42585737	103778285	893	69822											
SNAI2	6591	broad.mit.edu	37	chr8	49832560	49832560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccgaatatgcatcttcaGggcgcccaggctcacatatt	9	10	10	12	2	3	0	2	0	1	0	4	1	4	0	2	3	1	2	2	3	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:49832560G>A	ENST00000396822.1	-	3	877	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L	SNAI2_ENST00000020945.1_Silent_p.L174L			O43623	SNAI2_HUMAN	snail family zinc finger 2	174					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TGCATCTTCAGGGCGCCCAGG	0.488													14	77					0	0	0	0	A	49832560	G	A	49832560	2	1	364	1	0	0	0	0	0	0	0	1	14915	991	35	4		4	SNAI2	8	49832560	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	7246823	49832560	96531462	894	69823											
SDCBP	6386	broad.mit.edu	37	chr8	59492285	59492285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgaaagatagctctgcaGccagaaatggtcttctcacg	12	10	10	9	1	3	3	1	1	3	2	4	3	3	3	1	1	3	2	1	1	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:59492285G>T	ENST00000523483.1	+	8	2256	c.742G>T	c.(742-744)Gcc>Tcc	p.A248S	SDCBP_ENST00000260130.4_Missense_Mutation_p.A228S|SDCBP_ENST00000520168.1_Missense_Mutation_p.A169S|SDCBP_ENST00000422546.2_Missense_Mutation_p.A227S|SDCBP_ENST00000447267.2_Missense_Mutation_p.A174S|SDCBP_ENST00000424270.2_Missense_Mutation_p.A222S|SDCBP_ENST00000447182.2_Missense_Mutation_p.A227S|SDCBP_ENST00000413219.2_Missense_Mutation_p.A228S			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	228	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TAGCTCTGCAGCCAGAAATGG	0.393													49	76					8.00217e-19	8.29957e-19	1	0	T	59492285	G	T	59492285	3	4	364	1	0	0	0	0	1	0	0	0	14042	971	34	4	704	4	SDCBP	8	59492285	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	9659725	59492285	86871737	895	69824											
CA8	767	broad.mit.edu	37	chr8	61121414	61121414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaagttgtctcccaaaatcCcatcacagccttccacaagt	13	9	5	14	0	2	0	1	0	1	0	5	1	4	0	4	0	1	1	4	0	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:61121414C>T	ENST00000317995.4	-	8	1067	c.803G>A	c.(802-804)gGg>gAg	p.G268E		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	268					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TCCCAAAATCCCATCACAGCC	0.428													28	53					0	0	0	0	T	61121414	C	T	61121414	3	4	364	1	0	0	0	0	1	0	0	0	2548	623	22	4	73	4	CA8	8	61121414	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1629129	61121414	85242608	896	69825											
ASPH	444	broad.mit.edu	37	chr8	62475388	62475388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttttaaggaagtatcattgGgaaatagttgaactaatctc	14	15	8	4	0	2	1	1	1	1	0	3	3	2	3	0	2	1	2	0	2	7	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:62475388G>A	ENST00000541428.1	-	18	1425	c.1265C>T	c.(1264-1266)cCc>cTc	p.P422L	ASPH_ENST00000379454.4_Missense_Mutation_p.P451L	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	451					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AGTATCATTGGGAAATAGTTG	0.353													26	111					0	0	0	0	A	62475388	G	A	62475388	3	1	364	1	0	0	0	0	1	0	0	0	1057	1232	43	4	956	4	ASPH	8	62475388	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1353974	62475388	83888634	897	69826											
CYP7B1	9420	broad.mit.edu	37	chr8	65528305	65528305	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggacatcttgcctgctttGaaaaacttctgaccatcctt	10	13	6	12	0	2	2	0	2	2	0	3	3	3	3	3	1	3	1	3	1	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:65528305G>A	ENST00000310193.3	-	3	966	c.793C>T	c.(793-795)Caa>Taa	p.Q265*	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	265					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGCCTGCTTTGAAAAACTTCT	0.363													47	216					0	0	0	0	A	65528305	G	A	65528305	4	1	364	1	0	0	0	0	0	1	0	0	4229	1299	45	2	743	2	CYP7B1	8	65528305	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3052917	65528305	80835717	898	69827											
TRIM55	84675	broad.mit.edu	37	chr8	67040642	67040642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtggttttggatagacatgGggtatatggacttcagagga	11	12	15	3	0	1	2	1	0	0	2	1	5	1	5	0	6	0	2	0	6	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:67040642G>A	ENST00000315962.4	+	2	645	c.272G>A	c.(271-273)gGg>gAg	p.G91E	TRIM55_ENST00000350034.4_Missense_Mutation_p.G91E|TRIM55_ENST00000353317.5_Missense_Mutation_p.G91E|TRIM55_ENST00000276573.7_Missense_Mutation_p.G91E	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	91						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GATAGACATGGGGTATATGGA	0.498													26	150					0	0	0	0	A	67040642	G	A	67040642	3	1	364	1	0	0	0	0	1	0	0	0	16624	1232	43	4	278	4	TRIM55	8	67040642	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1512337	67040642	79323380	899	69828											
PREX2	80243	broad.mit.edu	37	chr8	69031678	69031678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacatctaggtgatgaacttCccttaagtgttcgcatatct	10	14	8	9	1	2	2	0	2	2	0	4	3	3	2	1	1	1	2	1	1	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:69031678C>T	ENST00000288368.4	+	28	3710	c.3433C>T	c.(3433-3435)Ccc>Tcc	p.P1145S		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1145					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGATGAACTTCCCTTAAGTGT	0.348													17	80					0	0	0	0	T	69031678	C	T	69031678	3	4	364	1	0	0	0	0	1	0	0	0	12557	855	30	2	3772	2	PREX2	8	69031678	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1991036	69031678	77332344	900	69829											
C8orf34	116328	broad.mit.edu	37	chr8	69633671	69633671	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatctaaactaacaggacCtgtaagtatattcattgact	15	12	6	8	0	2	1	1	1	1	0	2	2	2	2	1	1	3	3	1	1	6	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:69633671C>T	ENST00000337103.4	+	9	2662	c.1071_splice	c.e9+1	p.P357_splice	C8orf34_ENST00000539993.1_Splice_Site_p.P382_splice|C8orf34_ENST00000325233.3_Splice_Site_p.P126_splice|C8orf34_ENST00000518698.1_Splice_Site_p.P468_splice			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	382					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTAACAGGACCTGTAAGTATA	0.284													5	35					0	0	0	0	T	69633671	C	T	69633671	5	4	364	1	0	0	0	0	0	0	1	0	2446	695	24	4	1104	4	C8orf34	8	69633671	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	601993	69633671	76730351	901	69830											
PRDM14	63978	broad.mit.edu	37	chr8	70970904	70970904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggtgcttctcatgaacatGaagaatgtggatccgaagcc	11	9	11	10	2	1	3	1	2	1	1	3	5	2	4	3	2	3	1	3	2	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:70970904G>A	ENST00000276594.2	-	6	1558	c.1357C>T	c.(1357-1359)Cat>Tat	p.H453Y		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCATGAACATGAAGAATGTGG	0.532													19	46					0	0	0	0	A	70970904	G	A	70970904	3	1	364	1	0	0	0	0	1	0	0	0	12535	1290	45	2	370	2	PRDM14	8	70970904	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1337233	70970904	75393118	902	69831											
STAU2	27067	broad.mit.edu	37	chr8	74529566	74529566	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataggttcattctgcagtgcTtggagggctttcattgcagc	7	14	12	8	0	3	0	2	0	1	0	3	1	3	1	0	3	4	5	0	3	1	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:74529566T>A	ENST00000355780.5	-	6	653	c.435A>T	c.(433-435)caA>caT	p.Q145H	STAU2_ENST00000521727.1_Missense_Mutation_p.Q157H|STAU2_ENST00000524300.1_Missense_Mutation_p.Q177H|STAU2_ENST00000517542.1_Missense_Mutation_p.Q139H|STAU2_ENST00000523558.1_Missense_Mutation_p.Q5H|STAU2_ENST00000521451.1_De_novo_Start_InFrame|STAU2_ENST00000522509.1_Missense_Mutation_p.Q145H|STAU2_ENST00000522695.1_Missense_Mutation_p.Q145H|STAU2_ENST00000521210.1_Missense_Mutation_p.Q73H|STAU2_ENST00000519961.1_Missense_Mutation_p.Q177H	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	177	DRBM 2.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TCTGCAGTGCTTGGAGGGCTT	0.433													24	46					0	0	0	0	A	74529566	T	A	74529566	3	1	364	1	0	0	0	0	1	0	0	0	15363	1606	56	5	1341	5	STAU2	8	74529566	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	3558662	74529566	71834456	903	69832											
ZFHX4	79776	broad.mit.edu	37	chr8	77764288	77764288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcaagccgcattctttcagCctcagtttctaaacccagcc	10	10	6	15	1	4	0	2	0	2	0	4	0	4	0	4	0	5	3	4	0	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:77764288C>T	ENST00000521891.2	+	10	5579	c.5131C>T	c.(5131-5133)Cct>Tct	p.P1711S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1666S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1685S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1666S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1666	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTCTTTCAGCCTCAGTTTCT	0.453										HNSCC(33;0.089)			16	73					0	0	0	0	T	77764288	C	T	77764288	3	4	364	1	0	0	0	0	1	0	0	0	17730	739	26	4	5165	4	ZFHX4	8	77764288	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3234722	77764288	68599734	904	69833											
ZFHX4	79776	broad.mit.edu	37	chr8	77766126	77766126	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcaatgtggttttccccagGatctttgacttgattacgca	8	15	9	9	1	1	2	0	2	1	0	2	3	2	3	2	2	2	3	2	2	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:77766126G>A	ENST00000521891.2	+	10	7417	c.6969G>A	c.(6967-6969)agG>agA	p.R2323R	ZFHX4_ENST00000050961.6_Silent_p.R2278R|ZFHX4_ENST00000518282.1_Silent_p.R2297R|ZFHX4_ENST00000455469.2_Silent_p.R2278R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2278						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTTCCCCAGGATCTTTGACT	0.398										HNSCC(33;0.089)			29	72					0	0	0	0	A	77766126	G	A	77766126	2	1	364	1	0	0	0	0	0	0	0	1	17730	1165	41	2		2	ZFHX4	8	77766126	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1838	77766126	68597896	905	69834											
ZNF704	619279	broad.mit.edu	37	chr8	81733814	81733814	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgttttaagtcctctgactGaaatgtgaaggtcatttccc	10	14	8	9	1	2	3	1	3	1	0	4	3	4	3	2	1	0	1	2	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:81733814G>A	ENST00000327835.3	-	2	247	c.16C>T	c.(16-18)Cag>Tag	p.Q6*		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	6						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCCTCTGACTGAAATGTGAAG	0.408													63	145					0	0	0	0	A	81733814	G	A	81733814	4	1	364	1	0	0	0	0	0	1	0	0	18202	1299	45	2	1254	2	ZNF704	8	81733814	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3967688	81733814	64630208	906	69835											
E2F5	1875	broad.mit.edu	37	chr8	86114445	86114445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atatcaccaatgtcttagagGgaattgacttgattgaaaaa	16	12	8	5	0	2	4	1	3	1	1	2	5	2	5	1	1	0	0	1	1	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:86114445G>A	ENST00000418930.2	+	2	494	c.298G>A	c.(298-300)Gga>Aga	p.G100R	E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000416274.2_Missense_Mutation_p.G100R|E2F5_ENST00000256117.5_Missense_Mutation_p.G100R			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	100					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TGTCTTAGAGGGAATTGACTT	0.388													4	42					0	0	0	0	A	86114445	G	A	86114445	3	1	364	1	0	0	0	0	1	0	0	0	4906	1233	43	4	304	4	E2F5	8	86114445	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4380631	86114445	60249577	907	69836											
CNGB3	54714	broad.mit.edu	37	chr8	87638235	87638235	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagtcgactttgctgatGatgctgaagttcacatcaat	13	12	8	8	1	2	3	2	3	0	0	3	4	2	3	0	0	3	3	0	0	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:87638235G>T	ENST00000320005.5	-	13	1601	c.1554C>A	c.(1552-1554)atC>atA	p.I518I		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	518					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTTTGCTGATGATGCTGAAGT	0.378													12	54					0.411799	0.412561	1	0	T	87638235	G	T	87638235	2	4	364	1	0	0	0	0	0	0	0	1	3631	1280	45	2		2	CNGB3	8	87638235	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1523790	87638235	58725787	908	69837											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885084	88885084	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgctcctcggaagcccccGaggcgagaagagaaggccac	10	3	15	13	3	0	2	0	0	0	2	2	6	1	3	4	4	2	1	4	4	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:88885084G>A	ENST00000319675.3	-	1	1212	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	372										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGAAGCCCCCGAGGCGAGAAG	0.592													23	51					0	0	0	0	A	88885084	G	A	88885084	2	1	364	1	0	0	0	0	0	0	0	1	4305	1045	37	1		1	DCAF4L2	8	88885084	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1246849	88885084	57478938	909	69838											
MMP16	4325	broad.mit.edu	37	chr8	89179964	89179964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggtatctcctccaattcCtggtccagggaagtaggcat	9	11	11	10	0	1	0	0	0	1	0	5	1	4	1	4	4	0	3	4	4	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:89179964C>T	ENST00000286614.6	-	4	924	c.643G>A	c.(643-645)Gga>Aga	p.G215R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	215					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCTCCAATTCCTGGTCCAGGG	0.418													10	46					0	0	0	0	T	89179964	C	T	89179964	3	4	364	1	0	0	0	0	1	0	0	0	9724	690	24	4	1364	4	MMP16	8	89179964	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	294880	89179964	57184058	910	69839											
GEM	2669	broad.mit.edu	37	chr8	95262787	95262787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctcgatgaacttgcaGtcaaacaccactgcacaggc	12	7	10	12	1	2	1	1	1	1	0	3	3	2	1	1	2	4	2	1	2	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:95262787G>A	ENST00000297596.2	-	5	906	c.642C>T	c.(640-642)gaC>gaT	p.D214D	GEM_ENST00000396194.2_Silent_p.D214D	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	214					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGAACTTGCAGTCAAACACCA	0.562													12	24					0	0	0	0	A	95262787	G	A	95262787	2	1	364	1	0	0	0	0	0	0	0	1	6380	1020	36	4		4	GEM	8	95262787	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6082823	95262787	51101235	911	69840											
ESRP1	54845	broad.mit.edu	37	chr8	95653671	95653671	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagtcgtggatctggccaAcaagaaggtatttctccaca	13	9	10	9	1	2	1	0	0	2	1	4	3	2	2	2	3	1	1	2	3	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:95653671A>G	ENST00000433389.2	+	1	315	c.125A>G	c.(124-126)aAc>aGc	p.N42S	ESRP1_ENST00000454170.2_Missense_Mutation_p.N42S|ESRP1_ENST00000358397.5_Missense_Mutation_p.N42S|ESRP1_ENST00000423620.2_Missense_Mutation_p.N42S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	42					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GATCTGGCCAACAAGAAGGTA	0.522													35	81					0	0	0	0	G	95653671	A	G	95653671	3	3	364	1	0	0	0	0	1	0	0	0	5296	43	2	5	127	5	ESRP1	8	95653671	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	390884	95653671	50710351	912	69841											
TSPYL5	85453	broad.mit.edu	37	chr8	98289088	98289088	+	Nonsense_Mutation	SNP	G	G	A																															atcatgccctgggagccactGgattggagtagaacgagaca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:98289088G>A	ENST00000322128.3	-	1	1088	c.985C>T	c.(985-987)Cag>Tag	p.Q329*		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	329					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GGGAGCCACTGGATTGGAGTA	0.498													14	78					0	0	0	0	A	98289088	G	A	98289088	4	1	364	1	0	0	0	0	0	1	0	0	16757	1357	47	4	272	4	TSPYL5	8	98289088	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2635417	98289088	48074934	913	69842	894	2									
TSPYL5	85453	broad.mit.edu	37	chr8	98289089	98289089	+	Silent	SNP	G	G	A																															tcatgccctgggagccactgGattggagtagaacgagacac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:98289089G>A	ENST00000322128.3	-	1	1087	c.984C>T	c.(982-984)atC>atT	p.I328I		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	328					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GGAGCCACTGGATTGGAGTAG	0.493													14	79					0	0	0	0	A	98289089	G	A	98289089	2	1	364	1	0	0	0	0	0	0	0	1	16757	1164	41	2		2	TSPYL5	8	98289089	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	98289089	48074933	914	69843	894	2									
SPAG1	6674	broad.mit.edu	37	chr8	101174571	101174571	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaacattcaaaattccCattgaacatctagatttcaa	19	11	2	9	0	3	2	2	1	1	1	4	2	4	2	1	0	2	0	1	0	7	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:101174571C>T	ENST00000388798.2	+	2	254	c.63C>T	c.(61-63)ccC>ccT	p.P21P	SPAG1_ENST00000251809.3_Silent_p.P21P|SPAG1_ENST00000520643.1_Silent_p.P21P|SPAG1_ENST00000520508.1_Silent_p.P21P	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	21					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TCAAAATTCCCATTGAACATC	0.294													5	22					0	0	0	0	T	101174571	C	T	101174571	2	4	364	1	0	0	0	0	0	0	0	1	15065	581	21	4		4	SPAG1	8	101174571	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2885482	101174571	45189451	915	69844											
GRHL2	79977	broad.mit.edu	37	chr8	102570885	102570885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggccccacctgtgcactatCcccggggagatggggaagag	8	6	15	12	1	0	2	0	0	0	2	1	4	1	3	5	5	1	1	5	5	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:102570885C>T	ENST00000251808.3	+	4	861	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	GRHL2_ENST00000395927.1_Missense_Mutation_p.P159S	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	175						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGTGCACTATCCCCGGGGAGA	0.562													28	54					0	0	0	0	T	102570885	C	T	102570885	3	4	364	1	0	0	0	0	1	0	0	0	6814	855	30	2	537	2	GRHL2	8	102570885	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1396314	102570885	43793137	916	69845											
UBR5	51366	broad.mit.edu	37	chr8	103310705	103310705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgacataaatggggtcatCcctcttgcatccctaaaata	12	11	7	11	0	2	1	1	1	1	0	4	1	4	1	2	2	1	2	2	2	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:103310705C>T	ENST00000520539.1	-	26	3945	c.3339G>A	c.(3337-3339)ggG>ggA	p.G1113G	UBR5_ENST00000521922.1_Silent_p.G1107G|UBR5_ENST00000220959.4_Silent_p.G1113G	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1113					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATGGGGTCATCCCTCTTGCAT	0.308													13	37					0	0	0	0	T	103310705	C	T	103310705	2	4	364	1	0	0	0	0	0	0	0	1	17001	842	30	2		2	UBR5	8	103310705	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	739820	103310705	43053317	917	69846											
RIMS2	9699	broad.mit.edu	37	chr8	104940078	104940078	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgcttaccagagccaaagCcttagtagaagaacaacgcc	14	8	8	11	1	0	3	0	0	0	3	0	3	0	3	4	0	6	2	4	0	7	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:104940078C>T	ENST00000436393.2	+	9	1780	c.1539C>T	c.(1537-1539)agC>agT	p.S513S	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Silent_p.S735S|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	810					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAGCCAAAGCCTTAGTAGAA	0.353										HNSCC(12;0.0054)			8	21					0	0	0	0	T	104940078	C	T	104940078	2	4	364	1	0	0	0	0	0	0	0	1	13453	738	26	4		4	RIMS2	8	104940078	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1629373	104940078	41423944	918	69847											
ABRA	137735	broad.mit.edu	37	chr8	107782215	107782215	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctttctggtgtgaagtaggGggtgtgattggtttaggagc	6	14	18	3	0	1	2	0	2	1	0	1	3	1	3	0	5	1	3	0	5	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:107782215G>A	ENST00000311955.3	-	1	258	c.204C>T	c.(202-204)ccC>ccT	p.P68P		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	68					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTGAAGTAGGGGGTGTGATTG	0.587													39	72					0	0	0	0	A	107782215	G	A	107782215	2	1	364	1	0	0	0	0	0	0	0	1	100	1219	43	4		4	ABRA	8	107782215	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2842137	107782215	38581807	919	69848											
TRHR	7201	broad.mit.edu	37	chr8	110131279	110131279	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctctatttctccctaggtCaccaagatgctggcagtggt	7	13	9	12	0	3	1	1	0	2	1	5	1	3	1	2	3	1	2	2	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:110131279C>T	ENST00000518632.1	+	3	1143	c.792C>T	c.(790-792)gtC>gtT	p.V264V	TRHR_ENST00000311762.2_Silent_p.V264V			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	264						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTCCCTAGGTCACCAAGATGC	0.423													100	220					0	0	0	0	T	110131279	C	T	110131279	2	4	364	1	0	0	0	0	0	0	0	1	16575	813	29	2		2	TRHR	8	110131279	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2349064	110131279	36232743	920	69849											
PKHD1L1	93035	broad.mit.edu	37	chr8	110416808	110416808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atattgaaatcttgctgcagGagtacagattaagtgcattt	13	14	9	5	0	1	2	0	1	1	1	1	3	1	3	0	1	4	4	0	1	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:110416808G>A	ENST00000378402.5	+	15	1503	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	467					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.E469K(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTGCTGCAGGAGTACAGATT	0.308										HNSCC(38;0.096)			10	25					0	0	0	0	A	110416808	G	A	110416808	3	1	364	1	0	0	0	0	1	0	0	0	12044	1175	41	2	1457	2	PKHD1L1	8	110416808	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	285529	110416808	35947214	921	69850											
PKHD1L1	93035	broad.mit.edu	37	chr8	110520013	110520013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatacctcaagcagaatatGaatgggacggaaacagccaa	17	6	10	8	1	1	3	1	2	0	1	1	5	1	5	2	2	4	1	2	2	7	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:110520013G>A	ENST00000378402.5	+	69	11220	c.11116G>A	c.(11116-11118)Gaa>Aaa	p.E3706K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3706					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCAGAATATGAATGGGACGG	0.433										HNSCC(38;0.096)			20	117					0	0	0	0	A	110520013	G	A	110520013	3	1	364	1	0	0	0	0	1	0	0	0	12044	1291	45	2	11390	2	PKHD1L1	8	110520013	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	103205	110520013	35844009	922	69851											
CSMD3	114788	broad.mit.edu	37	chr8	113299443	113299443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctagagccatggccgggagTacctggatcgccacatgtcc	8	8	12	13	2	1	1	0	0	1	1	3	3	2	3	5	3	2	1	5	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:113299443T>C	ENST00000297405.5	-	58	9425	c.9181A>G	c.(9181-9183)Act>Gct	p.T3061A	CSMD3_ENST00000455883.2_Missense_Mutation_p.T2892A|CSMD3_ENST00000352409.3_Missense_Mutation_p.T2991A|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3021A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3061	Sushi 22.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGCCGGGAGTACCTGGATCG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	90					0	0	0	0	C	113299443	T	C	113299443	3	2	364	1	0	0	0	0	1	0	0	0	3978	1638	57	5	1998	5	CSMD3	8	113299443	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	2779430	113299443	33064579	923	69852											
CSMD3	114788	broad.mit.edu	37	chr8	113697955	113697955	+	Missense_Mutation	SNP	C	C	A																															gtgcagtaaagttagacaggCagggaactggtgaaacagga																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:113697955C>A	ENST00000297405.5	-	15	2406	c.2162G>T	c.(2161-2163)tGc>tTc	p.C721F	CSMD3_ENST00000455883.2_Missense_Mutation_p.C617F|CSMD3_ENST00000352409.3_Missense_Mutation_p.C721F|CSMD3_ENST00000343508.3_Missense_Mutation_p.C681F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	721	CUB 4.					integral to membrane|plasma membrane		p.C681Y(1)|p.C721Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTAGACAGGCAGGGAACTGG	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	81					1.02788e-11	1.05437e-11	1	0	A	113697955	C	A	113697955	3	1	364	1	0	0	0	0	1	0	0	0	3978	710	25	4	9189	4	CSMD3	8	113697955	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	398512	113697955	32666067	924	69853	895	2									
CSMD3	114788	broad.mit.edu	37	chr8	113697958	113697958	+	Missense_Mutation	SNP	G	G	A																															cagtaaagttagacaggcagGgaactggtgaaacaggaaga																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:113697958G>A	ENST00000297405.5	-	15	2403	c.2159C>T	c.(2158-2160)cCc>cTc	p.P720L	CSMD3_ENST00000455883.2_Missense_Mutation_p.P616L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P720L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P680L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	720						integral to membrane|plasma membrane		p.P720L(1)|p.P680L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGACAGGCAGGGAACTGGTGA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	78					0	0	0	0	A	113697958	G	A	113697958	3	1	364	1	0	0	0	0	1	0	0	0	3978	1232	43	4	9192	4	CSMD3	8	113697958	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3	113697958	32666064	925	69854	895	2									
CSMD3	114788	broad.mit.edu	37	chr8	114326862	114326862	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gataagtagtcgtattcttcTtctagagcaaatgactgaaa	14	13	8	6	1	3	3	0	2	3	1	4	4	3	3	0	0	1	3	0	0	6	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:114326862T>C	ENST00000297405.5	-	2	583	c.339A>G	c.(337-339)gaA>gaG	p.E113E	CSMD3_ENST00000455883.2_Silent_p.E113E|CSMD3_ENST00000352409.3_Silent_p.E113E|CSMD3_ENST00000343508.3_Silent_p.E73E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	113	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGTATTCTTCTTCTAGAGCAA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			44	91					0	0	0	0	C	114326862	T	C	114326862	2	2	364	1	0	0	0	0	0	0	0	1	3978	1606	56	5		5	CSMD3	8	114326862	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	628904	114326862	32037160	926	69855											
MED30	90390	broad.mit.edu	37	chr8	118542972	118542972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattcccagcaacttattcCatatgtggaagaagatggct	12	12	8	9	0	1	2	1	0	0	2	3	3	3	3	2	2	2	2	2	2	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:118542972C>T	ENST00000297347.3	+	3	511	c.347C>T	c.(346-348)cCa>cTa	p.P116L	MED30_ENST00000522839.1_Intron	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	116					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CAACTTATTCCATATGTGGAA	0.348													15	35					0	0	0	0	T	118542972	C	T	118542972	3	4	364	1	0	0	0	0	1	0	0	0	9517	594	21	4	357	4	MED30	8	118542972	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4216110	118542972	27821050	927	69856											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119945375	119945375	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgtgtagtagtggtcaggGcaaggggcgcacacggtctt	7	10	16	8	2	3	0	1	0	2	0	3	0	3	0	0	5	0	4	0	5	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:119945375G>A	ENST00000297350.4	-	2	573	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	65					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			AGTGGTCAGGGCAAGGGGCGC	0.527													84	174					0	0	0	0	A	119945375	G	A	119945375	2	1	364	1	0	0	0	0	0	0	0	1	16379	1195	42	4		4	TNFRSF11B	8	119945375	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1402403	119945375	26418647	928	69857											
MAL2	114569	broad.mit.edu	37	chr8	120252438	120252438	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttacagtatttgtcttcTattttggagcctttttattg	7	23	6	5	0	2	0	0	0	2	0	2	1	2	1	1	1	2	1	1	1	4	12			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:120252438T>C	ENST00000276681.6	+	4	439	c.337T>C	c.(337-339)Tat>Cat	p.Y113H	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	113	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			ATTTGTCTTCTATTTTGGAGC	0.358													39	79					0	0	0	0	C	120252438	T	C	120252438	3	2	364	1	0	0	0	0	1	0	0	0	9269	1522	53	5	348	5	MAL2	8	120252438	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	307063	120252438	26111584	929	69858											
COL14A1	7373	broad.mit.edu	37	chr8	121381580	121381580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acttcttaggaccttcagggGagagtcggcctggcagccct	7	9	13	12	1	2	1	1	0	1	1	3	3	2	2	3	5	1	1	3	5	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:121381580G>A	ENST00000297848.3	+	47	5437	c.5167G>A	c.(5167-5169)Gag>Aag	p.E1723K	COL14A1_ENST00000309791.4_Missense_Mutation_p.E1723K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E1628K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1723	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCTTCAGGGGAGAGTCGGCC	0.562													10	88					0	0	0	0	A	121381580	G	A	121381580	3	1	364	1	0	0	0	0	1	0	0	0	3701	1175	41	2	5349	2	COL14A1	8	121381580	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1129142	121381580	24982442	930	69859											
HAS2	3037	broad.mit.edu	37	chr8	122626849	122626849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtggcaatgagaaagaaagGaaagaatccagtgataatcg	18	7	12	4	1	0	4	0	2	0	3	2	6	1	5	1	2	0	1	1	2	6	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:122626849G>A	ENST00000303924.4	-	4	1696	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	387						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGAAAGAAAGGAAAGAATCCA	0.423													12	105					0	0	0	0	A	122626849	G	A	122626849	3	1	364	1	0	0	0	0	1	0	0	0	7012	1174	41	2	503	2	HAS2	8	122626849	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1245269	122626849	23737173	931	69860											
SQLE	6713	broad.mit.edu	37	chr8	126011730	126011730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggccaacagggaggtcCtgttgtgcgtgctggtgttc	4	13	15	9	1	0	0	0	0	0	0	2	1	1	1	2	4	3	3	2	4	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:126011730C>T	ENST00000265896.5	+	1	983	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	SQLE_ENST00000523430.1_Intron	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	29					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	CAGGGAGGTCCTGTTGTGCGT	0.572													10	29					0	0	0	0	T	126011730	C	T	126011730	2	4	364	1	0	0	0	0	0	0	0	1	15218	680	24	4		4	SQLE	8	126011730	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3384881	126011730	20352292	932	69861											
ADCY8	114	broad.mit.edu	37	chr8	131792678	131792678	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccttcagcctgggctccAggctctgtgccgctgggtga	3	10	15	13	1	2	1	1	1	1	0	3	1	3	1	4	3	3	3	4	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:131792678A>G	ENST00000286355.5	-	18	5806	c.3714T>C	c.(3712-3714)ccT>ccC	p.P1238P	ADCY8_ENST00000377928.3_Silent_p.P1107P	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1238					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTGGGCTCCAGGCTCTGTGC	0.408										HNSCC(32;0.087)			42	62					0	0	0	0	G	131792678	A	G	131792678	2	3	364	1	0	0	0	0	0	0	0	1	300	175	7	5		5	ADCY8	8	131792678	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	5780948	131792678	14571344	933	69862											
ADCY8	114	broad.mit.edu	37	chr8	131797639	131797639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcctttacctgtttttcaGgtgacaggcctgacacggcc	7	12	10	12	1	1	2	1	2	0	0	2	2	2	2	4	3	1	1	4	3	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:131797639G>A	ENST00000286355.5	-	16	5235	c.3143C>T	c.(3142-3144)cCt>cTt	p.P1048L	ADCY8_ENST00000377928.3_Missense_Mutation_p.P917L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1048					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGTTTTTCAGGTGACAGGCC	0.498										HNSCC(32;0.087)			13	80					0	0	0	0	A	131797639	G	A	131797639	3	1	364	1	0	0	0	0	1	0	0	0	300	1000	35	4	624	4	ADCY8	8	131797639	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4961	131797639	14566383	934	69863											
EFR3A	23167	broad.mit.edu	37	chr8	132982751	132982751	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctggaagtcttcaatacCcttttgaaacatctgcgtct	9	14	8	10	1	4	1	1	1	3	0	4	2	4	2	1	1	4	1	1	1	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:132982751C>T	ENST00000254624.5	+	10	1245	c.1020C>T	c.(1018-1020)acC>acT	p.T340T	EFR3A_ENST00000519656.1_Silent_p.T304T|EFR3A_ENST00000334503.4_Silent_p.T340T	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	340						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCTTCAATACCCTTTTGAAAC	0.383													18	33					0	0	0	0	T	132982751	C	T	132982751	2	4	364	1	0	0	0	0	0	0	0	1	4994	610	22	4		4	EFR3A	8	132982751	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1185112	132982751	13381271	935	69864											
EFR3A	23167	broad.mit.edu	37	chr8	132999915	132999915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagtggatatagtgttgaGagattgtcagttccgtatgt	10	14	14	3	1	1	2	1	1	0	1	2	5	2	4	1	2	0	3	1	2	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:132999915G>A	ENST00000254624.5	+	18	2256	c.2031G>A	c.(2029-2031)gaG>gaA	p.E677E	EFR3A_ENST00000519656.1_Silent_p.E641E|EFR3A_ENST00000334503.4_Silent_p.E677E	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	677						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATAGTGTTGAGAGATTGTCAG	0.373													5	12					0	0	0	0	A	132999915	G	A	132999915	2	1	364	1	0	0	0	0	0	0	0	1	4994	933	33	2		2	EFR3A	8	132999915	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	17164	132999915	13364107	936	69865											
TG	7038	broad.mit.edu	37	chr8	133899039	133899039	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagcaaaacctttttggaggGaaatttttggtgaatgttgg	11	14	12	4	0	0	1	0	1	0	0	0	3	0	3	1	4	2	2	1	4	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:133899039G>A	ENST00000220616.4	+	9	1462	c.1422G>A	c.(1420-1422)ggG>ggA	p.G474G	TG_ENST00000377869.1_Silent_p.G474G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	474					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTTTGGAGGGAAATTTTTGG	0.468													17	108					0	0	0	0	A	133899039	G	A	133899039	2	1	364	1	0	0	0	0	0	0	0	1	15907	1161	41	2		2	TG	8	133899039	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	899124	133899039	12464983	937	69866											
TG	7038	broad.mit.edu	37	chr8	133984060	133984060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctttgaatgtgaacgacgGtgcgatgcggacccatgctg	8	11	13	9	4	1	2	0	2	1	0	1	5	1	3	1	2	4	1	1	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:133984060G>A	ENST00000220616.4	+	33	6037	c.5997G>A	c.(5995-5997)cgG>cgA	p.R1999R	TG_ENST00000377869.1_Silent_p.R1942R|TG_ENST00000519543.1_Silent_p.R153R|TG_ENST00000542445.1_Silent_p.R369R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1999			R -> W (in dbSNP:rs2076740).		hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGAACGACGGTGCGATGCGG	0.498													22	35					0	0	0	0	A	133984060	G	A	133984060	2	1	364	1	0	0	0	0	0	0	0	1	15907	1248	44	4		4	TG	8	133984060	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	85021	133984060	12379962	938	69867											
TG	7038	broad.mit.edu	37	chr8	134144090	134144090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggatgttcagtttgccttgGggcttcccttctacccagcc	4	13	10	14	1	2	0	1	0	1	0	3	1	3	1	4	3	3	3	4	3	1	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:134144090G>A	ENST00000220616.4	+	46	7937	c.7897G>A	c.(7897-7899)Ggg>Agg	p.G2633R	TG_ENST00000377869.1_Missense_Mutation_p.G2576R|TG_ENST00000519543.1_Missense_Mutation_p.G766R|TG_ENST00000542445.1_Missense_Mutation_p.G1003R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2633					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTTGCCTTGGGGCTTCCCTT	0.488													33	61					0	0	0	0	A	134144090	G	A	134144090	3	1	364	1	0	0	0	0	1	0	0	0	15907	1232	43	4	8079	4	TG	8	134144090	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	160030	134144090	12219932	939	69868											
TG	7038	broad.mit.edu	37	chr8	134147017	134147017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagcctccaggaaccaggCtctaagacctacagcaagtg	13	6	9	13	0	1	1	0	0	1	1	2	2	2	2	4	2	4	2	4	2	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:134147017C>T	ENST00000220616.4	+	48	8326	c.8286C>T	c.(8284-8286)ggC>ggT	p.G2762G	TG_ENST00000377869.1_Silent_p.G2705G|TG_ENST00000519543.1_Silent_p.G895G|TG_ENST00000542445.1_Silent_p.G1132G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2762					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGAACCAGGCTCTAAGACCT	0.537													18	24					0	0	0	0	T	134147017	C	T	134147017	2	4	364	1	0	0	0	0	0	0	0	1	15907	784	28	4		4	TG	8	134147017	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2927	134147017	12217005	940	69869											
FAM135B	51059	broad.mit.edu	37	chr8	139158208	139158208	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtatcatcatacctgattCttttcagacattaggaagtc	11	16	6	8	0	4	2	3	1	1	1	5	3	4	3	1	1	1	1	1	1	4	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139158208C>T	ENST00000395297.1	-	15	3704	c.3534G>A	c.(3532-3534)aaG>aaA	p.K1178K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1178										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATACCTGATTCTTTTCAGACA	0.428										HNSCC(54;0.14)			16	130					0	0	0	0	T	139158208	C	T	139158208	2	4	364	1	0	0	0	0	0	0	0	1	5490	912	32	2		2	FAM135B	8	139158208	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5011191	139158208	7205814	941	69870											
FAM135B	51059	broad.mit.edu	37	chr8	139164563	139164563	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggtggagggcatgtcttcGaacaaacgggtgcaagactt	10	8	14	9	3	1	1	0	0	1	1	2	3	1	2	1	4	3	2	1	4	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139164563G>A	ENST00000395297.1	-	13	2325	c.2155C>T	c.(2155-2157)Cga>Tga	p.R719*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	719										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATGTCTTCGAACAAACGGG	0.567										HNSCC(54;0.14)			8	44					0	0	0	0	A	139164563	G	A	139164563	4	1	364	1	0	0	0	0	0	1	0	0	5490	1066	37	1	2097	1	FAM135B	8	139164563	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6355	139164563	7199459	942	69871											
FAM135B	51059	broad.mit.edu	37	chr8	139164907	139164907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgttttgtctgaagagatgGcattttggtggcttccacct	6	17	11	7	0	1	2	0	1	1	1	2	3	2	2	2	3	0	3	2	3	1	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139164907G>A	ENST00000395297.1	-	13	1981	c.1811C>T	c.(1810-1812)gCc>gTc	p.A604V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	604										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAAGAGATGGCATTTTGGTG	0.458										HNSCC(54;0.14)			27	200					0	0	0	0	A	139164907	G	A	139164907	3	1	364	1	0	0	0	0	1	0	0	0	5490	1203	42	4	2441	4	FAM135B	8	139164907	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	344	139164907	7199115	943	69872											
FAM135B	51059	broad.mit.edu	37	chr8	139165102	139165102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctctggacctggactcCttctagaagtatccacatct	9	12	6	14	0	3	1	0	0	3	1	6	3	6	3	4	2	0	1	4	2	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139165102C>T	ENST00000395297.1	-	13	1786	c.1616G>A	c.(1615-1617)aGg>aAg	p.R539K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	539										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCTGGACTCCTTCTAGAAGT	0.498										HNSCC(54;0.14)			10	66					0	0	0	0	T	139165102	C	T	139165102	3	4	364	1	0	0	0	0	1	0	0	0	5490	681	24	4	2636	4	FAM135B	8	139165102	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	195	139165102	7198920	944	69873											
COL22A1	169044	broad.mit.edu	37	chr8	139890021	139890021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agacggcgccgcagcttgccCcggatcttgtcgatggcatt	6	9	13	13	5	1	1	0	0	1	1	2	3	1	2	3	3	2	3	3	3	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139890021C>T	ENST00000303045.6	-	3	1076	c.630G>A	c.(628-630)cgG>cgA	p.R210R	COL22A1_ENST00000435777.1_Silent_p.R210R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	210	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCAGCTTGCCCCGGATCTTGT	0.662										HNSCC(7;0.00092)			21	45					0	0	0	0	T	139890021	C	T	139890021	2	4	364	1	0	0	0	0	0	0	0	1	3711	610	22	4		4	COL22A1	8	139890021	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	724919	139890021	6474001	945	69874											
FAM83H	286077	broad.mit.edu	37	chr8	144808904	144808904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accggactacccctgcgctcGgggtaggctgaggtggggct	5	7	17	12	3	0	1	0	1	0	0	1	2	0	2	3	7	2	4	3	7	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144808904G>A	ENST00000388913.3	-	5	2852	c.2727C>T	c.(2725-2727)ccC>ccT	p.P909P		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	909					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCTGCGCTCGGGGTAGGCTG	0.677													5	16					0	0	0	0	A	144808904	G	A	144808904	2	1	364	1	0	0	0	0	0	0	0	1	5686	1103	39	1		1	FAM83H	8	144808904	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4918883	144808904	1555118	946	69875											
EPPK1	83481	broad.mit.edu	37	chr8	144940361	144940361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccacgggcacgcggtggCtgtgcacggggtcgatgacg	5	6	18	12	7	0	1	0	1	0	0	2	2	1	1	1	5	1	3	1	5	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144940361C>T	ENST00000525985.1	-	2	7132	c.7061G>A	c.(7060-7062)aGc>aAc	p.S2354N				P58107	EPIPL_HUMAN	epiplakin 1	2354						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACGCGGTGGCTGTGCACGGG	0.687													20	472					0	0	0	0	T	144940361	C	T	144940361	3	4	364	1	0	0	0	0	1	0	0	0	5228	797	28	4	205	4	EPPK1	8	144940361	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	131457	144940361	1423661	947	69876											
EPPK1	83481	broad.mit.edu	37	chr8	144941347	144941347	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgtaggctgtttccagtggGagccggtggtggtgctgtgg	3	12	19	7	1	0	0	0	0	0	0	1	1	1	1	2	6	2	4	2	6	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144941347G>A	ENST00000525985.1	-	2	6146	c.6075C>T	c.(6073-6075)ctC>ctT	p.L2025L				P58107	EPIPL_HUMAN	epiplakin 1	2025						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTTCCAGTGGGAGCCGGTGGT	0.602													7	55					0	0	0	0	A	144941347	G	A	144941347	2	1	364	1	0	0	0	0	0	0	0	1	5228	1161	41	2		2	EPPK1	8	144941347	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	986	144941347	1422675	948	69877											
PLEC	5339	broad.mit.edu	37	chr8	144999724	144999724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggcctccaactgcaggCgcaccacgcggatctcctcc	6	6	11	18	4	1	0	0	0	1	0	4	1	3	1	5	4	2	2	5	4	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144999724C>T	ENST00000322810.4	-	31	4953	c.4784G>A	c.(4783-4785)cGc>cAc	p.R1595H	PLEC_ENST00000436759.2_Missense_Mutation_p.R1485H|PLEC_ENST00000345136.3_Missense_Mutation_p.R1458H|PLEC_ENST00000354958.2_Missense_Mutation_p.R1436H|PLEC_ENST00000527096.1_Missense_Mutation_p.R1481H|PLEC_ENST00000354589.3_Missense_Mutation_p.R1458H|PLEC_ENST00000357649.2_Missense_Mutation_p.R1462H|PLEC_ENST00000356346.3_Missense_Mutation_p.R1444H|PLEC_ENST00000398774.2_Missense_Mutation_p.R1426H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1595	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAACTGCAGGCGCACCACGCG	0.721													4	6					0	0	0	0	T	144999724	C	T	144999724	3	4	364	1	0	0	0	0	1	0	0	0	12124	768	27	1	9278	1	PLEC	8	144999724	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	58377	144999724	1364298	949	69878											
PLEC	5339	broad.mit.edu	37	chr8	145001818	145001818	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgccagcgctccacctcCacgtcccgctccccgtgccg	3	6	8	24	6	0	0	0	0	0	0	5	0	5	0	9	0	2	2	9	0	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:145001818C>T	ENST00000322810.4	-	27	4096	c.3927G>A	c.(3925-3927)gtG>gtA	p.V1309V	PLEC_ENST00000436759.2_Silent_p.V1199V|PLEC_ENST00000345136.3_Silent_p.V1172V|PLEC_ENST00000354958.2_Silent_p.V1150V|PLEC_ENST00000527096.1_Silent_p.V1195V|PLEC_ENST00000354589.3_Silent_p.V1172V|PLEC_ENST00000357649.2_Silent_p.V1176V|PLEC_ENST00000356346.3_Silent_p.V1158V|PLEC_ENST00000398774.2_Silent_p.V1140V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1309	Globular 1.			V -> L (in Ref. 2; AAB05427/AAB05428).	cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCCACCTCCACGTCCCGCT	0.731													4	4					0	0	0	0	T	145001818	C	T	145001818	2	4	364	1	0	0	0	0	0	0	0	1	12124	581	21	4		4	PLEC	8	145001818	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2094	145001818	1362204	950	69879											
MFSD3	113655	broad.mit.edu	37	chr8	145735387	145735387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacggcaggctttgtgctcaCctacaagctgggtgagtgag	8	9	15	9	1	1	2	1	2	0	0	1	3	1	2	1	3	3	4	1	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:145735387C>T	ENST00000301327.4	+	1	931	c.671C>T	c.(670-672)aCc>aTc	p.T224I		NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	224	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTTGTGCTCACCTACAAGCTG	0.667											OREG0019059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	15					0	0	0	0	T	145735387	C	T	145735387	3	4	364	1	0	0	0	0	1	0	0	0	9601	507	18	4	673	4	MFSD3	8	145735387	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	733569	145735387	628635	951	69880											
ZNF16	7564	broad.mit.edu	37	chr8	146171451	146171451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcagtatcactacagcaggGggtaccacaggctgcagatc	11	7	11	12	0	2	1	2	0	0	1	3	1	2	1	1	3	4	5	1	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:146171451G>A	ENST00000276816.4	-	3	328	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	ZNF16_ENST00000394909.2_Missense_Mutation_p.P48S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTACAGCAGGGGGTACCACAG	0.587													7	80					0	0	0	0	A	146171451	G	A	146171451	3	1	364	1	0	0	0	0	1	0	0	0	17833	1232	43	4	1914	4	ZNF16	8	146171451	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	436064	146171451	192571	952	69881											
KCNV2	169522	broad.mit.edu	37	chr9	2729471	2729471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catctccaccgtgggctacgGagacatgtacccagagaccc	10	6	10	15	2	1	2	0	0	1	2	2	4	1	2	4	2	2	2	4	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:2729471G>A	ENST00000382082.3	+	2	1620	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	461						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTGGGCTACGGAGACATGTAC	0.517													17	79					0	0	0	0	A	2729471	G	A	2729471	3	1	364	1	0	0	0	0	1	0	0	0	8148	1174	41	2	1388	2	KCNV2	9	2729471	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08		2729471	138483960	953	69882											
RFX3	5991	broad.mit.edu	37	chr9	3330439	3330439	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtagtcacctgggcggaactCccttgagtatcaaagtaatt	11	11	10	9	1	2	1	2	1	0	0	3	2	3	2	2	2	1	3	2	2	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:3330439C>T	ENST00000382004.3	-	5	605	c.294G>A	c.(292-294)ggG>ggA	p.G98G	RFX3_ENST00000302303.1_Silent_p.G98G|RFX3_ENST00000358730.2_Silent_p.G98G	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	98					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GGGCGGAACTCCCTTGAGTAT	0.488													25	38					0	0	0	0	T	3330439	C	T	3330439	2	4	364	1	0	0	0	0	0	0	0	1	13346	842	30	2		2	RFX3	9	3330439	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	600968	3330439	137882992	954	69883											
ERMP1	79956	broad.mit.edu	37	chr9	5805208	5805208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtaaaaagcaataaattttCcttgggcacctagggaaaaa	17	9	9	6	0	0	0	0	0	0	0	1	1	1	1	2	3	1	3	2	3	9	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:5805208C>T	ENST00000339450.5	-	10	1822	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	ERMP1_ENST00000381506.3_Intron|ERMP1_ENST00000543230.1_Missense_Mutation_p.G156E|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	578					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AATAAATTTTCCTTGGGCACC	0.383													4	13					0	0	0	0	T	5805208	C	T	5805208	3	4	364	1	0	0	0	0	1	0	0	0	5274	855	30	2	1005	2	ERMP1	9	5805208	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2474769	5805208	135408223	955	69884											
KIAA2026	158358	broad.mit.edu	37	chr9	5968741	5968741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgtattttaatgggtGgaattggaaattctggggcc	8	16	12	5	0	2	0	0	0	2	0	2	2	2	2	1	5	0	1	1	5	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:5968741G>A	ENST00000399933.3	-	3	1489	c.1490C>T	c.(1489-1491)cCa>cTa	p.P497L	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P497L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	497										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTAATGGGTGGAATTGGAAA	0.378													46	88					0	0	0	0	A	5968741	G	A	5968741	3	1	364	1	0	0	0	0	1	0	0	0	8321	1348	47	4	4845	4	KIAA2026	9	5968741	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	163533	5968741	135244690	956	69885											
FREM1	158326	broad.mit.edu	37	chr9	14776177	14776177	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaaacaccccgtgctcggtCcgcagtccattgctgatgat	8	10	9	14	3	1	2	1	2	0	0	4	2	3	2	4	1	3	3	4	1	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:14776177C>T	ENST00000380881.4	-	26	5285	c.4470G>A	c.(4468-4470)cgG>cgA	p.R1490R	FREM1_ENST00000380894.1_Silent_p.R25R|FREM1_ENST00000422223.2_Silent_p.R1489R|FREM1_ENST00000380880.3_Silent_p.R1489R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1489					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.R1490R(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CGTGCTCGGTCCGCAGTCCAT	0.527													20	37					0	0	0	0	T	14776177	C	T	14776177	2	4	364	1	0	0	0	0	0	0	0	1	6092	842	30	2		2	FREM1	9	14776177	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	8807436	14776177	126437254	957	69886											
BNC2	54796	broad.mit.edu	37	chr9	16437494	16437494	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcgagacatgatggccCagcggtccagcaccttgcca	8	8	10	15	2	1	2	0	1	1	1	3	3	2	2	4	2	3	1	4	2	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:16437494C>T	ENST00000380672.4	-	6	755	c.698G>A	c.(697-699)tGg>tAg	p.W233*	BNC2_ENST00000545497.1_Nonsense_Mutation_p.W138*|BNC2_ENST00000380666.2_Nonsense_Mutation_p.W233*|BNC2_ENST00000380667.2_Nonsense_Mutation_p.W166*	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CATGATGGCCCAGCGGTCCAG	0.443													13	48					0	0	0	0	T	16437494	C	T	16437494	4	4	364	1	0	0	0	0	0	1	0	0	1480	595	21	4	2609	4	BNC2	9	16437494	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1661317	16437494	124775937	958	69887											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18675895	18675895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgccttatgacctctaccatCcccttcctcggtacgtaaat	8	13	5	15	2	1	1	0	1	1	0	4	1	3	1	6	1	3	2	6	1	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:18675895C>T	ENST00000380548.4	+	10	1465	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.P376S|ADAMTSL1_ENST00000380566.4_Intron|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.P376S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	376	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTCTACCATCCCCTTCCTCG	0.368													11	46					0	0	0	0	T	18675895	C	T	18675895	3	4	364	1	0	0	0	0	1	0	0	0	274	855	30	2	1164	2	ADAMTSL1	9	18675895	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2238401	18675895	122537536	959	69888											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			12	15					0	0	0	0	A	21971120	G	A	21971120	4	1	364	1	0	0	0	0	0	1	0	0	3190	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3295225	21971120	119242311	960	69889											
TAF1L	138474	broad.mit.edu	37	chr9	32632800	32632800	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttctggggcaaaaaaGgatttctcaccatagccagc	11	11	8	11	0	4	0	1	0	4	0	5	1	4	1	2	3	2	1	2	3	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:32632800G>A	ENST00000242310.4	-	1	2867	c.2778C>T	c.(2776-2778)tcC>tcT	p.S926S		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	926					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGGCAAAAAAGGATTTCTCAC	0.453													16	131					0	0	0	0	A	32632800	G	A	32632800	2	1	364	1	0	0	0	0	0	0	0	1	15614	987	35	4		4	TAF1L	9	32632800	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	10661680	32632800	108580631	961	69890											
NOL6	65083	broad.mit.edu	37	chr9	33467448	33467448	+	Missense_Mutation	SNP	G	G	A																															gctggtcagtccctcaggccGgagaaggagtcccagggtca																								rs115753355	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:33467448G>A	ENST00000379471.2	-	13	1756	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R505W			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	557					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCCTCAGGCCGGAGAAGGAGT	0.602											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	27					0	0	0	0	A	33467448	G	A	33467448	3	1	364	1	0	0	0	0	1	0	0	0	10595	1115	39	1	1827	1	NOL6	9	33467448	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	834648	33467448	107745983	962	69891	896	2									
NOL6	65083	broad.mit.edu	37	chr9	33467449	33467449	+	Silent	SNP	G	G	A																															ctggtcagtccctcaggccgGagaaggagtcccagggtcag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:33467449G>A	ENST00000379471.2	-	13	1755	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Silent_p.L504L			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	556					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCTCAGGCCGGAGAAGGAGTC	0.597											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	28					0	0	0	0	A	33467449	G	A	33467449	2	1	364	1	0	0	0	0	0	0	0	1	10595	1161	41	2		2	NOL6	9	33467449	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	33467449	107745982	963	69892	896	2									
UBAP2	55833	broad.mit.edu	37	chr9	33922871	33922871	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaaatccctgcttgtcAaaagtctacagggcaaagaa	15	8	9	9	0	2	2	1	1	1	1	3	2	3	2	1	1	2	3	1	1	6	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:33922871A>T	ENST00000379238.1	-	28	3195	c.3078T>A	c.(3076-3078)ttT>ttA	p.F1026L	UBAP2_ENST00000539807.1_Missense_Mutation_p.F781L|UBAP2_ENST00000379235.1_Missense_Mutation_p.F265L|UBAP2_ENST00000379239.4_Missense_Mutation_p.F759L|UBAP2_ENST00000449054.1_Missense_Mutation_p.F1026L|UBAP2_ENST00000360802.1_Missense_Mutation_p.F1026L			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	1026										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCTGCTTGTCAAAAGTCTACA	0.572													55	28					0	0	0	0	T	33922871	A	T	33922871	3	4	364	1	0	0	0	0	1	0	0	0	16933	127	5	5	289	5	UBAP2	9	33922871	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	455422	33922871	107290560	964	69893											
C9orf131	138724	broad.mit.edu	37	chr9	35045473	35045473	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaaagagagagcaccctagGaaacccaaagcaggagacca	20	1	10	10	0	0	3	0	0	0	3	0	6	0	4	3	2	3	2	3	2	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:35045473G>A	ENST00000312292.5	+	2	2894	c.2847G>A	c.(2845-2847)agG>agA	p.R949R	C9orf131_ENST00000354479.5_Silent_p.R876R|C9orf131_ENST00000421362.2_Silent_p.R901R	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	949										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCACCCTAGGAAACCCAAAG	0.542													19	145					0	0	0	0	A	35045473	G	A	35045473	2	1	364	1	0	0	0	0	0	0	0	1	2482	1165	41	2		2	C9orf131	9	35045473	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1122602	35045473	106167958	965	69894											
UNC13B	10497	broad.mit.edu	37	chr9	35243343	35243343	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgggagcaaatcaatgcCttgggagctgacaatgaggt	14	8	13	6	0	1	2	1	2	0	0	1	4	1	4	1	3	3	2	1	3	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:35243343C>T	ENST00000378495.3	+	6	672	c.450C>T	c.(448-450)gcC>gcT	p.A150A	UNC13B_ENST00000396787.1_Silent_p.A150A|UNC13B_ENST00000378496.4_Silent_p.A150A	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	150					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AAATCAATGCCTTGGGAGCTG	0.443													25	131					0	0	0	0	T	35243343	C	T	35243343	2	4	364	1	0	0	0	0	0	0	0	1	17081	668	24	4		4	UNC13B	9	35243343	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	197870	35243343	105970088	966	69895											
RECK	8434	broad.mit.edu	37	chr9	36102140	36102140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggagaccagaacaaattcCctgaagaccacacagctgaa	16	5	9	11	0	0	5	0	2	0	3	1	6	1	5	3	1	2	1	3	1	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:36102140C>T	ENST00000377966.3	+	12	1914	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	450						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GAACAAATTCCCTGAAGACCA	0.373													13	76					0	0	0	0	T	36102140	C	T	36102140	3	4	364	1	0	0	0	0	1	0	0	0	13282	623	22	4	1394	4	RECK	9	36102140	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	858797	36102140	105111291	967	69896											
PAX5	5079	broad.mit.edu	37	chr9	37014993	37014993	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacaggcacgagcccctcaCctgttgatggaactgacgct	9	7	10	15	2	1	2	1	2	0	0	1	4	1	3	4	2	2	3	4	2	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:37014993C>T	ENST00000358127.4	-	3	485		c.e3+1		PAX5_ENST00000520281.1_Splice_Site|PAX5_ENST00000377852.2_Splice_Site|PAX5_ENST00000520154.1_Splice_Site|PAX5_ENST00000377847.2_Splice_Site|PAX5_ENST00000522003.1_Splice_Site|PAX5_ENST00000377853.2_Splice_Site|PAX5_ENST00000523241.1_Splice_Site|PAX5_ENST00000523145.1_Splice_Site|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000414447.1_Splice_Site	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5						cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(39)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GAGCCCCTCACCTGTTGATGG	0.577			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								34	172					0	0	0	0	T	37014993	C	T	37014993	5	4	364	1	0	0	0	0	0	0	1	0	11553	521	18	4	796	4	PAX5	9	37014993	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	912853	37014993	104198438	968	69897											
FBXO10	26267	broad.mit.edu	37	chr9	37537656	37537656	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccagggacattaaaaaGtcagagtcctctgtggggag	12	8	14	7	0	2	1	1	0	1	1	4	3	4	3	2	4	0	0	2	4	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:37537656G>A	ENST00000432825.2	-	3	918	c.870C>T	c.(868-870)gaC>gaT	p.D290D	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	290						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACATTAAAAAGTCAGAGTCCT	0.542													6	40					0	0	0	0	A	37537656	G	A	37537656	2	1	364	1	0	0	0	0	0	0	0	1	5771	1020	36	4		4	FBXO10	9	37537656	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	522663	37537656	103675775	969	69898											
ALDH1B1	219	broad.mit.edu	37	chr9	38396326	38396326	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccttggtcatgcagggttGgaaacttgccccggcactcg	6	9	12	14	2	1	0	1	0	0	0	2	1	1	1	4	4	3	3	4	4	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:38396326G>A	ENST00000377698.3	+	2	734	c.581G>A	c.(580-582)tGg>tAg	p.W194*		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	194					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	ATGCAGGGTTGGAAACTTGCC	0.587													15	87					0	0	0	0	A	38396326	G	A	38396326	4	1	364	1	0	0	0	0	0	1	0	0	493	1357	47	4	583	4	ALDH1B1	9	38396326	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	858670	38396326	102817105	970	69899											
C9orf135	138255	broad.mit.edu	37	chr9	72459528	72459528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacatatcggcgactgggaaCcgatgaatccccagtaagta	14	7	10	10	3	0	1	0	1	0	0	2	4	1	2	3	2	2	2	3	2	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:72459528C>T	ENST00000377197.3	+	2	335	c.248C>T	c.(247-249)aCc>aTc	p.T83I	C9orf135_ENST00000527647.1_Missense_Mutation_p.T83I|C9orf135_ENST00000466872.2_Intron	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	83						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						CGACTGGGAACCGATGAATCC	0.398													42	73					0	0	0	0	T	72459528	C	T	72459528	3	4	364	1	0	0	0	0	1	0	0	0	2483	507	18	4	254	4	C9orf135	9	72459528	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	34063202	72459528	68753903	971	69900											
TRPM3	80036	broad.mit.edu	37	chr9	73477822	73477822	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactgaatggctttctgattAccatggctttgttggaatgg	9	15	11	6	0	1	2	0	2	1	0	1	3	1	3	1	4	2	3	1	4	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:73477822A>T	ENST00000377110.2	-	3	706		c.e3+1		TRPM3_ENST00000396283.1_Splice_Site|TRPM3_ENST00000396285.1_Splice_Site|TRPM3_ENST00000360823.2_Splice_Site|TRPM3_ENST00000396292.4_Splice_Site|TRPM3_ENST00000357533.2_Splice_Site|TRPM3_ENST00000377097.3_Splice_Site|TRPM3_ENST00000361823.5_Splice_Site|TRPM3_ENST00000358082.3_Splice_Site|TRPM3_ENST00000396280.5_Splice_Site|TRPM3_ENST00000377101.1_Splice_Site|TRPM3_ENST00000377105.1_Splice_Site|TRPM3_ENST00000377106.1_Splice_Site|TRPM3_ENST00000423814.3_Splice_Site|TRPM3_ENST00000408909.2_Splice_Site|TRPM3_ENST00000377111.2_Splice_Site	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTTTCTGATTACCATGGCTTT	0.463													19	154					0	0	0	0	T	73477822	A	T	73477822	5	4	364	1	0	0	0	0	0	0	1	0	16682	405	14	5	4874	5	TRPM3	9	73477822	Splice_Site	SNP	A	TCGA-D6-6516-01A-11D-1870-08	1018294	73477822	67735609	972	69901											
PCSK5	5125	broad.mit.edu	37	chr9	78953163	78953163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagatattacgcagacaactCcactggccggtgtgagaggt	11	8	12	10	2	0	3	0	1	0	3	1	4	1	3	2	3	2	1	2	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:78953163C>T	ENST00000545128.1	+	34	5223	c.4685C>T	c.(4684-4686)tCc>tTc	p.S1562F		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	733					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCAGACAACTCCACTGGCCGG	0.502													5	17					0	0	0	0	T	78953163	C	T	78953163	3	4	364	1	0	0	0	0	1	0	0	0	11674	870	30	2		2	PCSK5	9	78953163	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5475341	78953163	62260268	973	69902											
GCNT1	2650	broad.mit.edu	37	chr9	79117759	79117759	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttctattgcattcatgtGgacacaaaatccgaggattc	13	13	7	8	1	2	0	1	0	1	0	4	3	3	2	1	2	1	1	1	2	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:79117759G>A	ENST00000442371.1	+	3	1401	c.462G>A	c.(460-462)gtG>gtA	p.V154V	GCNT1_ENST00000376730.4_Silent_p.V154V|GCNT1_ENST00000444201.2_Silent_p.V154V|GCNT1_ENST00000536223.1_Silent_p.V154V	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	154	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GCATTCATGTGGACACAAAAT	0.428													42	70					0	0	0	0	A	79117759	G	A	79117759	2	1	364	1	0	0	0	0	0	0	0	1	6349	1335	47	4		4	GCNT1	9	79117759	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	164596	79117759	62095672	974	69903											
GCNT1	2650	broad.mit.edu	37	chr9	79117926	79117926	+	Nonsense_Mutation	SNP	G	G	A																															ctatgcaatgagtgcaaactGgaagtacttgataaatcttt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:79117926G>A	ENST00000442371.1	+	3	1568	c.629G>A	c.(628-630)tGg>tAg	p.W210*	GCNT1_ENST00000376730.4_Nonsense_Mutation_p.W210*|GCNT1_ENST00000444201.2_Nonsense_Mutation_p.W210*|GCNT1_ENST00000536223.1_Nonsense_Mutation_p.W210*	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	210	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						AGTGCAAACTGGAAGTACTTG	0.438													18	89					0	0	0	0	A	79117926	G	A	79117926	4	1	364	1	0	0	0	0	0	1	0	0	6349	1357	47	4	631	4	GCNT1	9	79117926	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	167	79117926	62095505	975	69904	897	2									
GCNT1	2650	broad.mit.edu	37	chr9	79117927	79117927	+	Nonsense_Mutation	SNP	G	G	A																															tatgcaatgagtgcaaactgGaagtacttgataaatctttg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:79117927G>A	ENST00000442371.1	+	3	1569	c.630G>A	c.(628-630)tgG>tgA	p.W210*	GCNT1_ENST00000376730.4_Nonsense_Mutation_p.W210*|GCNT1_ENST00000444201.2_Nonsense_Mutation_p.W210*|GCNT1_ENST00000536223.1_Nonsense_Mutation_p.W210*	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	210	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GTGCAAACTGGAAGTACTTGA	0.438													18	89					0	0	0	0	A	79117927	G	A	79117927	4	1	364	1	0	0	0	0	0	1	0	0	6349	1183	41	2	632	2	GCNT1	9	79117927	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	79117927	62095504	976	69905	897	2									
PRUNE2	158471	broad.mit.edu	37	chr9	79322795	79322795	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaagttacattcttcagtTttctcaagatccttttcagg	11	16	6	8	0	4	2	3	0	2	2	6	2	5	2	1	1	1	2	1	1	3	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:79322795T>A	ENST00000428286.1	-	8	4518	c.3318A>T	c.(3316-3318)aaA>aaT	p.K1106N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.K1465N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1465					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATTCTTCAGTTTTCTCAAGAT	0.433													20	88					0	0	0	0	A	79322795	T	A	79322795	3	1	364	1	0	0	0	0	1	0	0	0	12720	1838	64	5	4919	5	PRUNE2	9	79322795	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	204868	79322795	61890636	977	69906											
TLE4	7091	broad.mit.edu	37	chr9	82267635	82267635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgccgggcttctggccctctCcagtgctctaggaggtcagt	4	11	13	13	1	4	0	1	0	3	0	5	1	4	1	3	4	2	2	3	4	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:82267635C>T	ENST00000376520.4	+	7	1346	c.518C>T	c.(517-519)tCc>tTc	p.S173F	TLE4_ENST00000376537.4_Missense_Mutation_p.S173F|TLE4_ENST00000376544.3_Missense_Mutation_p.S173F|TLE4_ENST00000376552.2_Missense_Mutation_p.S173F|TLE4_ENST00000265284.6_Missense_Mutation_p.S148F|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376534.4_5'UTR			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGGCCCTCTCCAGTGCTCTA	0.542													67	120					0	0	0	0	T	82267635	C	T	82267635	3	4	364	1	0	0	0	0	1	0	0	0	16035	855	30	2	544	2	TLE4	9	82267635	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2944840	82267635	58945796	978	69907											
FRMD3	257019	broad.mit.edu	37	chr9	85862842	85862842	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagattaacttcatgagcaAcccagcatgtagaggatgag	15	8	11	7	0	1	4	1	2	0	2	1	6	1	5	1	1	4	3	1	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:85862842A>G	ENST00000304195.3	-	14	1991	c.1785T>C	c.(1783-1785)ggT>ggC	p.G595G	FRMD3_ENST00000328788.1_Intron|FRMD3_ENST00000376438.1_Intron|FRMD3_ENST00000376434.1_Intron	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	595						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTCATGAGCAACCCAGCATGT	0.478													95	247					0	0	0	0	G	85862842	A	G	85862842	2	3	364	1	0	0	0	0	0	0	0	1	6098	30	2	5		5	FRMD3	9	85862842	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	3595207	85862842	55350589	979	69908											
HNRNPK	3190	broad.mit.edu	37	chr9	86586945	86586945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaggcatgggacgcccacCccgaccaggaggcattctgt	8	6	14	13	2	1	0	0	0	1	0	1	4	1	3	4	5	0	2	4	5	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:86586945C>T	ENST00000376263.3	-	11	1028	c.805G>A	c.(805-807)Ggt>Agt	p.G269S	HNRNPK_ENST00000376281.4_Missense_Mutation_p.G269S|HNRNPK_ENST00000376264.2_Missense_Mutation_p.G269S|HNRNPK_ENST00000360384.5_Missense_Mutation_p.G269S|HNRNPK_ENST00000351839.3_Missense_Mutation_p.G269S	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	269	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Necessary for interaction with DDX1.|RNA-binding RGG-box.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GGACGCCCACCCCGACCAGGA	0.582													14	89					0	0	0	0	T	86586945	C	T	86586945	3	4	364	1	0	0	0	0	1	0	0	0	7319	623	22	4	652	4	HNRNPK	9	86586945	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	724103	86586945	54626486	980	69909											
ZCCHC6	79670	broad.mit.edu	37	chr9	88960644	88960644	+	Translation_Start_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaaatgcaatggattcAattaaaacatcacagagtct	16	10	8	7	0	3	1	2	0	1	1	3	2	3	2	0	2	2	2	0	2	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:88960644A>C	ENST00000277141.6	-	0	929				ZCCHC6_ENST00000375961.2_Missense_Mutation_p.I253M|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.I253M|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.I86M|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.I253M			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6						RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CAATGGATTCAATTAAAACAT	0.353													13	79					0	0	0	0	C	88960644	A	C	88960644	1	2	364	1	0	0	0	0	0	0	0	0	17687	126	5	5		5	ZCCHC6	9	88960644	Translation_Start_Site	SNP	A	TCGA-D6-6516-01A-11D-1870-08	2373699	88960644	52252787	981	69910											
DAPK1	1612	broad.mit.edu	37	chr9	90272959	90272959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagtatgggcgaacgcctCtgcaccttgcggccaacaac	9	6	10	16	3	1	0	0	0	1	0	1	1	1	0	4	2	5	2	4	2	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:90272959C>T	ENST00000469640.2	+	18	2215	c.1840C>T	c.(1840-1842)Ctg>Ttg	p.L614L	DAPK1_ENST00000408954.3_Silent_p.L614L|DAPK1_ENST00000491893.1_Silent_p.L614L|DAPK1_ENST00000358077.5_Silent_p.L614L|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000472284.1_Silent_p.L614L			P53355	DAPK1_HUMAN	death-associated protein kinase 1	614					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCGAACGCCTCTGCACCTTGC	0.567									Chronic Lymphocytic Leukemia, Familial Clustering of				7	16					0	0	0	0	T	90272959	C	T	90272959	2	4	364	1	0	0	0	0	0	0	0	1	4268	912	32	2		2	DAPK1	9	90272959	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1312315	90272959	50940472	982	69911											
DAPK1	1612	broad.mit.edu	37	chr9	90296363	90296363	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagctccgacccacacaGaacctgcagccaagaattaa	15	4	7	15	1	0	2	0	0	0	2	1	3	1	2	4	0	5	3	4	0	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:90296363G>C	ENST00000469640.2	+	20	2421	c.2046G>C	c.(2044-2046)caG>caC	p.Q682H	DAPK1_ENST00000408954.3_Missense_Mutation_p.Q682H|DAPK1_ENST00000491893.1_Missense_Mutation_p.Q682H|DAPK1_ENST00000358077.5_Missense_Mutation_p.Q682H|DAPK1_ENST00000472284.1_Missense_Mutation_p.Q682H			P53355	DAPK1_HUMAN	death-associated protein kinase 1	682					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GACCCACACAGAACCTGCAGC	0.502									Chronic Lymphocytic Leukemia, Familial Clustering of				35	182					0	0	0	0	C	90296363	G	C	90296363	3	2	364	1	0	0	0	0	1	0	0	0	4268	933	33	2	2120	2	DAPK1	9	90296363	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	23404	90296363	50917068	983	69912											
DIRAS2	54769	broad.mit.edu	37	chr9	93375903	93375903	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacagccgctgcatggcCgggaactggtggctccccgt	6	7	15	13	3	0	0	0	0	0	0	1	2	1	2	4	5	3	3	4	5	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:93375903C>T	ENST00000375765.3	-	2	595	c.207G>A	c.(205-207)ccG>ccA	p.P69P		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	69					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						GCTGCATGGCCGGGAACTGGT	0.577													34	85					0	0	0	0	T	93375903	C	T	93375903	2	4	364	1	0	0	0	0	0	0	0	1	4568	639	23	1		1	DIRAS2	9	93375903	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3079540	93375903	47837528	984	69913											
AUH	549	broad.mit.edu	37	chr9	94087606	94087606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaatagtgcttaccaatatCgttaatcactgctcttattt	11	18	4	8	1	2	0	1	0	1	0	3	0	2	0	1	0	3	3	1	0	7	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:94087606C>T	ENST00000375731.4	-	4	522	c.499G>A	c.(499-501)Gat>Aat	p.D167N	AUH_ENST00000303617.5_Intron|AUH_ENST00000422391.2_Missense_Mutation_p.D167N|AUH_ENST00000478465.1_5'UTR	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	167					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTACCAATATCGTTAATCACT	0.343													28	103					0	0	0	0	T	94087606	C	T	94087606	3	4	364	1	0	0	0	0	1	0	0	0	1223	884	31	1	548	1	AUH	9	94087606	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	711703	94087606	47125825	985	69914											
IARS	3376	broad.mit.edu	37	chr9	95030486	95030486	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcatcgctgacccacagtggGatgggggtgccccagtatct	7	9	13	12	1	2	1	1	1	1	0	3	2	2	2	3	3	1	2	3	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:95030486G>A	ENST00000375643.3	-	14	1667	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Silent_p.I357I|IARS_ENST00000443024.2_Silent_p.I467I	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	467					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CCCACAGTGGGATGGGGGTGC	0.463													47	242					0	0	0	0	A	95030486	G	A	95030486	2	1	364	1	0	0	0	0	0	0	0	1	7526	1164	41	2		2	IARS	9	95030486	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	942880	95030486	46182945	986	69915											
ZNF484	83744	broad.mit.edu	37	chr9	95610131	95610131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctgacggtttgacttgaggGaaaaatccttctcatattca	11	14	8	8	1	3	3	2	3	2	0	5	4	4	4	1	2	0	1	1	2	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:95610131G>A	ENST00000395505.2	-	3	922	c.830C>T	c.(829-831)tCc>tTc	p.S277F	ZNF484_ENST00000332591.6_Missense_Mutation_p.S277F|ZNF484_ENST00000395506.3_Missense_Mutation_p.S315F|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.S313F	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGACTTGAGGGAAAAATCCTT	0.433													35	67					0	0	0	0	A	95610131	G	A	95610131	3	1	364	1	0	0	0	0	1	0	0	0	18032	1174	41	2	1624	2	ZNF484	9	95610131	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	579645	95610131	45603300	987	69916											
C9orf3	84909	broad.mit.edu	37	chr9	97522670	97522670	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaatcgttggagggagcAgttagactattacgctcgct	10	11	12	8	3	0	1	0	0	0	1	2	3	0	3	0	2	3	6	0	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:97522670A>T	ENST00000375315.2	+	1	605	c.605A>T	c.(604-606)cAg>cTg	p.Q202L	C9orf3_ENST00000277198.2_Missense_Mutation_p.Q202L|C9orf3_ENST00000297979.5_Missense_Mutation_p.Q202L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	202					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGGAGGGAGCAGTTAGACTAT	0.502													16	66					0	0	0	0	T	97522670	A	T	97522670	3	4	364	1	0	0	0	0	1	0	0	0	2502	188	7	5	607	5	C9orf3	9	97522670	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	1912539	97522670	43690761	988	69917											
C9orf156	51531	broad.mit.edu	37	chr9	100672660	100672660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggacatttaggtttcctCttagtgctatggtggggttg	6	16	13	6	0	2	0	1	0	1	0	3	1	3	1	1	5	1	3	1	5	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:100672660C>T	ENST00000375119.3	-	4	724	c.648G>A	c.(646-648)aaG>aaA	p.K216K	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	216					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TAGGTTTCCTCTTAGTGCTAT	0.488													22	90					0	0	0	0	T	100672660	C	T	100672660	2	4	364	1	0	0	0	0	0	0	0	1	2490	912	32	2		2	C9orf156	9	100672660	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3149990	100672660	40540771	989	69918											
TRIM14	9830	broad.mit.edu	37	chr9	100857229	100857229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttaaagaagctcttgacgGgctcaaaggagaggggcacg	12	6	14	9	2	2	3	1	1	1	2	2	4	2	3	1	4	1	3	1	4	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:100857229G>A	ENST00000341469.2	-	4	629	c.620C>T	c.(619-621)cCc>cTc	p.P207L	TRIM14_ENST00000375098.3_Missense_Mutation_p.P207L|TRIM14_ENST00000342043.3_Missense_Mutation_p.P207L	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	207						cytoplasm|intracellular	zinc ion binding	p.P207L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCTCTTGACGGGCTCAAAGGA	0.587													20	125					0	0	0	0	A	100857229	G	A	100857229	3	1	364	1	0	0	0	0	1	0	0	0	16584	1232	43	4	720	4	TRIM14	9	100857229	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	184569	100857229	40356202	990	69919											
GABBR2	9568	broad.mit.edu	37	chr9	101340229	101340229	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaccttacctgcaccagattCcagccttggagggactctgc	8	9	10	14	0	1	1	0	0	1	1	2	4	2	3	5	2	4	1	5	2	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:101340229C>T	ENST00000259455.2	-	2	906	c.447G>A	c.(445-447)tgG>tgA	p.W149*		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	149					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GCACCAGATTCCAGCCTTGGA	0.488													8	71					0	0	0	0	T	101340229	C	T	101340229	4	4	364	1	0	0	0	0	0	1	0	0	6204	856	30	2	2450	2	GABBR2	9	101340229	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	483000	101340229	39873202	991	69920											
NR4A3	8013	broad.mit.edu	37	chr9	102626030	102626030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaaggtcctgggtgccctgGtagaactgaggaagatctgc	9	8	14	10	0	1	3	0	1	1	2	2	4	2	4	3	4	3	1	3	4	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:102626030G>A	ENST00000330847.1	+	7	1839	c.1795G>A	c.(1795-1797)Gta>Ata	p.V599I	NR4A3_ENST00000395097.2_Missense_Mutation_p.V588I			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	588					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GGGTGCCCTGGTAGAACTGAG	0.532			T	EWSR1	extraskeletal myxoid chondrosarcoma								18	28					0	0	0	0	A	102626030	G	A	102626030	3	1	364	1	0	0	0	0	1	0	0	0	10705	1261	44	4	1899	4	NR4A3	9	102626030	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1285801	102626030	38587401	992	69921											
GRIN3A	116443	broad.mit.edu	37	chr9	104375660	104375660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaacagtctttccatacctCcgtgacagcaaaacttctct	11	12	4	14	1	3	1	1	1	2	0	6	1	5	1	3	0	4	1	3	0	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:104375660C>T	ENST00000361820.3	-	6	3364	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	922					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TTCCATACCTCCGTGACAGCA	0.433													12	60					0	0	0	0	T	104375660	C	T	104375660	3	4	364	1	0	0	0	0	1	0	0	0	6833	864	30	2	599	2	GRIN3A	9	104375660	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1749630	104375660	36837771	993	69922											
OR13D1	286365	broad.mit.edu	37	chr9	107456851	107456851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attctttctggtggggctttCccaatatccagagctccagc	7	13	9	12	0	2	1	0	0	2	1	5	1	5	1	3	3	2	2	3	3	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:107456851C>T	ENST00000318763.5	+	1	192	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GTGGGGCTTTCCCAATATCCA	0.448													24	85					0	0	0	0	T	107456851	C	T	107456851	3	4	364	1	0	0	0	0	1	0	0	0	11011	855	30	2	151	2	OR13D1	9	107456851	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3081191	107456851	33756580	994	69923											
ACTL7B	10880	broad.mit.edu	37	chr9	111617981	111617981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcagcgtttgcccacggtgGaggagatgaagtaggtgggc	8	7	19	7	2	0	2	0	1	0	1	0	4	0	3	1	6	2	3	1	6	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:111617981G>A	ENST00000374667.3	-	1	1258	c.230C>T	c.(229-231)tCc>tTc	p.S77F		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	77						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.S77F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCCCACGGTGGAGGAGATGAA	0.637													20	138					0	0	0	0	A	111617981	G	A	111617981	3	1	364	1	0	0	0	0	1	0	0	0	201	1174	41	2	1021	2	ACTL7B	9	111617981	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4161130	111617981	29595450	995	69924											
EPB41L4B	54566	broad.mit.edu	37	chr9	112018730	112018730	+	Silent	SNP	G	G	A																															cacttcgctttattcagataGgagagttccgcctgggcagg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:112018730G>A	ENST00000374566.3	-	8	1300	c.783C>T	c.(781-783)tcC>tcT	p.S261S	EPB41L4B_ENST00000374557.4_Silent_p.S261S	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	261	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TATTCAGATAGGAGAGTTCCG	0.473													24	123					0	0	0	0	A	112018730	G	A	112018730	2	1	364	1	0	0	0	0	0	0	0	1	5194	987	35	4		4	EPB41L4B	9	112018730	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	400749	112018730	29194701	996	69925	898	2									
EPB41L4B	54566	broad.mit.edu	37	chr9	112018731	112018731	+	Missense_Mutation	SNP	G	G	A																															acttcgctttattcagatagGagagttccgcctgggcaggg																								rs144325998	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:112018731G>A	ENST00000374566.3	-	8	1299	c.782C>T	c.(781-783)tCc>tTc	p.S261F	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.S261F	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	261	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTCAGATAGGAGAGTTCCGC	0.473													24	121					0	0	0	0	A	112018731	G	A	112018731	3	1	364	1	0	0	0	0	1	0	0	0	5194	1174	41	2	2148	2	EPB41L4B	9	112018731	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	112018731	29194700	997	69926	898	2									
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112898501	112898501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcctgctgccagctctctttCcccagatcacaaaaacatgg	10	9	7	15	0	2	1	1	0	1	1	4	1	3	1	4	1	4	2	4	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:112898501C>T	ENST00000374530.3	+	8	857	c.677C>T	c.(676-678)tCc>tTc	p.S226F	AKAP2_ENST00000555236.1_Missense_Mutation_p.S226F|AKAP2_ENST00000510514.5_Missense_Mutation_p.S226F|AKAP2_ENST00000434623.2_Missense_Mutation_p.S84F|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.S226F|AKAP2_ENST00000259318.7_5'UTR|AKAP2_ENST00000374525.1_Missense_Mutation_p.S84F	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		217							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGCTCTCTTTCCCCAGATCAC	0.507													35	124					0	0	0	0	T	112898501	C	T	112898501	3	4	364	1	0	0	0	0	1	0	0	0	11481	855	30	2	707	2	PALM2-AKAP2	9	112898501	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	879770	112898501	28314930	998	69927											
OR2K2	26248	broad.mit.edu	37	chr9	114090371	114090371	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatatgccatcacggccaGgagcacacactctgtggagc	10	7	11	13	1	3	0	2	0	1	0	3	2	3	2	2	3	3	1	2	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:114090371G>A	ENST00000374428.1	-	1	429	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	OR2K2_ENST00000302681.1_Silent_p.L115L			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						ATCACGGCCAGGAGCACACAC	0.517													13	37					0	0	0	0	A	114090371	G	A	114090371	2	1	364	1	0	0	0	0	0	0	0	1	11076	991	35	4		4	OR2K2	9	114090371	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1191870	114090371	27123060	999	69928											
C9orf84	158401	broad.mit.edu	37	chr9	114500596	114500596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcgtaggcaaaaatatctCaattttagtgtcattagaag	14	15	7	5	1	2	1	2	0	1	1	4	1	2	1	0	1	0	2	0	1	8	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:114500596C>T	ENST00000394779.3	-	8	1316	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	C9orf84_ENST00000374287.3_Missense_Mutation_p.E397K|C9orf84_ENST00000318737.4_Missense_Mutation_p.E397K|C9orf84_ENST00000374283.5_Missense_Mutation_p.E461K|C9orf84_ENST00000394777.4_Missense_Mutation_p.E358K	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	397										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAAAATATCTCAATTTTAGTG	0.289													11	61					0	0	0	0	T	114500596	C	T	114500596	3	4	364	1	0	0	0	0	1	0	0	0	2525	835	29	2	3213	2	C9orf84	9	114500596	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	410225	114500596	26712835	1000	69929											
RGS3	5998	broad.mit.edu	37	chr9	116224447	116224447	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcaaacttctccagccagGaagaggatcacgcatgccaa	14	6	8	13	1	3	1	2	0	1	1	4	3	3	3	3	2	3	1	3	2	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:116224447G>A	ENST00000374140.2	+	4	590	c.381G>A	c.(379-381)agG>agA	p.R127R	RGS3_ENST00000350696.5_Silent_p.R127R	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	127					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCCAGCCAGGAAGAGGATCA	0.537													9	74					0	0	0	0	A	116224447	G	A	116224447	2	1	364	1	0	0	0	0	0	0	0	1	13389	1165	41	2		2	RGS3	9	116224447	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1723851	116224447	24988984	1001	69930											
COL27A1	85301	broad.mit.edu	37	chr9	117014918	117014918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggcgtgcctggacccaagGggtcgatggtaaggagtaag	10	6	17	8	2	0	0	0	0	0	0	1	3	0	2	2	6	1	2	2	6	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:117014918G>A	ENST00000356083.3	+	26	3470	c.3079G>A	c.(3079-3081)Ggg>Agg	p.G1027R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1027	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGACCCAAGGGGTCGATGGT	0.592													22	117					0	0	0	0	A	117014918	G	A	117014918	3	1	364	1	0	0	0	0	1	0	0	0	3715	1232	43	4	3181	4	COL27A1	9	117014918	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	790471	117014918	24198513	1002	69931											
AKNA	80709	broad.mit.edu	37	chr9	117130730	117130730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggactcacctgaggccgcaGaggcctgggggtcctcggcc	5	5	16	15	3	1	2	1	1	0	1	3	3	2	3	5	6	0	1	5	6	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:117130730G>A	ENST00000307564.4	-	5	1723	c.1562C>T	c.(1561-1563)tCt>tTt	p.S521F	AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.S440F|AKNA_ENST00000374088.3_Missense_Mutation_p.S521F|AKNA_ENST00000312033.3_Missense_Mutation_p.S521F	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGAGGCCGCAGAGGCCTGGGG	0.667													13	60					0	0	0	0	A	117130730	G	A	117130730	3	1	364	1	0	0	0	0	1	0	0	0	463	942	33	2	2829	2	AKNA	9	117130730	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	115812	117130730	24082701	1003	69932											
TRIM32	22954	broad.mit.edu	37	chr9	119461243	119461243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctttttgaaggaaatcCgccgcagccccagtggcatt	10	9	11	11	2	0	1	0	1	0	0	1	2	1	2	4	3	1	3	4	3	3	3	rs3747835	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:119461243C>T	ENST00000450136.1	+	2	1383	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R408C	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	408			R -> C (in dbSNP:rs3747835).		fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GAAGGAAATCCGCCGCAGCCC	0.512													26	159					0	0	0	0	T	119461243	C	T	119461243	3	4	364	1	0	0	0	0	1	0	0	0	16601	652	23	1	1224	1	TRIM32	9	119461243	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2330513	119461243	21752188	1004	69933											
TLR4	7099	broad.mit.edu	37	chr9	120475272	120475272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgaccattgaagaattccGattagcatacttagactact	13	14	6	8	1	0	4	0	2	0	2	1	5	1	4	2	0	3	1	2	0	6	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:120475272G>A	ENST00000355622.6	+	3	967	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.R249Q	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	289					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GAAGAATTCCGATTAGCATAC	0.363													24	115					0	0	0	0	A	120475272	G	A	120475272	3	1	364	1	0	0	0	0	1	0	0	0	16047	1058	37	1	876	1	TLR4	9	120475272	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1014029	120475272	20738159	1005	69934											
TLR4	7099	broad.mit.edu	37	chr9	120476800	120476800	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacacttacctggagtgggaGgacagtgtcctggggcggca	9	7	16	9	1	0	0	0	0	0	0	1	3	1	3	2	6	2	1	2	6	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:120476800G>A	ENST00000355622.6	+	3	2495	c.2394G>A	c.(2392-2394)gaG>gaA	p.E798E	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.E758E	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	798	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGGAGTGGGAGGACAGTGTCC	0.542													38	75					0	0	0	0	A	120476800	G	A	120476800	2	1	364	1	0	0	0	0	0	0	0	1	16047	991	35	4		4	TLR4	9	120476800	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1528	120476800	20736631	1006	69935											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123313139	123313139	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctcaaggaaatagatgcgGagctttaggttaaagttttc	12	13	10	6	1	1	1	1	0	0	1	3	3	2	3	1	3	2	3	1	3	6	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:123313139G>A	ENST00000349780.4	-	4	416	c.237C>T	c.(235-237)ctC>ctT	p.L79L	CDK5RAP2_ENST00000360822.3_Silent_p.L79L|CDK5RAP2_ENST00000359309.3_Silent_p.L79L|CDK5RAP2_ENST00000360190.4_Silent_p.L79L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	79					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|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						AATAGATGCGGAGCTTTAGGT	0.393													17	129					0	0	0	0	A	123313139	G	A	123313139	2	1	364	1	0	0	0	0	0	0	0	1	3175	1161	41	2		2	CDK5RAP2	9	123313139	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2836339	123313139	17900292	1007	69936											
C5	727	broad.mit.edu	37	chr9	123737102	123737102	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtctgtcattttataattAtgtaaggcacctttatgctt	9	20	6	6	0	2	0	1	0	1	0	2	0	2	0	1	1	1	3	1	1	5	9			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:123737102A>G	ENST00000223642.1	-	30	4001	c.3972T>C	c.(3970-3972)caT>caC	p.H1324H		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1324					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTTTATAATTATGTAAGGCAC	0.388													19	128					0	0	0	0	G	123737102	A	G	123737102	2	3	364	1	0	0	0	0	0	0	0	1	2301	446	16	5		5	C5	9	123737102	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	423963	123737102	17476329	1008	69937											
C5	727	broad.mit.edu	37	chr9	123744130	123744130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actcttacttaccaccagggGgcatatatcgaaagcctttc	11	11	7	12	1	1	0	0	0	1	0	3	1	1	0	3	2	3	1	3	2	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:123744130G>A	ENST00000223642.1	-	27	3507	c.3478C>T	c.(3478-3480)Ccc>Tcc	p.P1160S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1160					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACCACCAGGGGGCATATATCG	0.413													6	33					0	0	0	0	A	123744130	G	A	123744130	3	1	364	1	0	0	0	0	1	0	0	0	2301	1232	43	4	1612	4	C5	9	123744130	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	7028	123744130	17469301	1009	69938											
MRRF	92399	broad.mit.edu	37	chr9	125042818	125042818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgaatgaagaaatgaagtCtgtgatagaagctctcaagg	15	9	13	4	0	2	6	1	4	2	2	3	6	2	6	0	2	1	1	0	2	7	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:125042818C>T	ENST00000344641.3	+	3	592	c.281C>T	c.(280-282)tCt>tTt	p.S94F	MRRF_ENST00000297908.3_Intron|MRRF_ENST00000373730.3_Missense_Mutation_p.S94F|MRRF_ENST00000373729.1_Missense_Mutation_p.S50F|MRRF_ENST00000373723.4_Missense_Mutation_p.S94F|MRRF_ENST00000546115.1_Missense_Mutation_p.S94F|MRRF_ENST00000373727.1_Missense_Mutation_p.S94F|MRRF_ENST00000373728.1_Missense_Mutation_p.S94F|MRRF_ENST00000394315.3_Missense_Mutation_p.S94F	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	94					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						GAAATGAAGTCTGTGATAGAA	0.408													29	45					0	0	0	0	T	125042818	C	T	125042818	3	4	364	1	0	0	0	0	1	0	0	0	9920	913	32	2	287	2	MRRF	9	125042818	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1298688	125042818	16170613	1010	69939											
OR1L4	254973	broad.mit.edu	37	chr9	125487082	125487082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatgtactcagtgatgaagGgccgggtagccacagttatg	10	9	13	9	1	1	2	1	2	0	0	1	2	1	2	3	2	2	3	3	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:125487082G>A	ENST00000259466.1	+	1	814	c.814G>A	c.(814-816)Ggc>Agc	p.G272S		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGTGATGAAGGGCCGGGTAGC	0.468													28	52					0	0	0	0	A	125487082	G	A	125487082	3	1	364	1	0	0	0	0	1	0	0	0	11036	1232	43	4	816	4	OR1L4	9	125487082	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	444264	125487082	15726349	1011	69940											
CRB2	286204	broad.mit.edu	37	chr9	126132586	126132586	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atccctatcttcgagtctggGgtccacagttacgtctgcca	7	12	9	13	2	3	0	0	0	3	0	6	1	5	0	3	2	2	1	3	2	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:126132586G>A	ENST00000373631.3	+	7	1255	c.1254G>A	c.(1252-1254)ggG>ggA	p.G418G	CRB2_ENST00000373629.2_Silent_p.G86G|CRB2_ENST00000359999.3_Silent_p.G418G	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	418	EGF-like 9.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCGAGTCTGGGGTCCACAGTT	0.622													7	30					0	0	0	0	A	126132586	G	A	126132586	2	1	364	1	0	0	0	0	0	0	0	1	3879	1219	43	4		4	CRB2	9	126132586	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	645504	126132586	15080845	1012	69941											
NR5A1	2516	broad.mit.edu	37	chr9	127245259	127245259	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctgagcgtctttcaccagGatgtggttattcaggaactt	8	14	10	9	1	3	1	2	1	1	0	4	3	4	3	2	3	2	1	2	3	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:127245259G>A	ENST00000373588.4	-	7	1360	c.1164C>T	c.(1162-1164)atC>atT	p.I388I		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	388	Important for dimerization.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						CTTTCACCAGGATGTGGTTAT	0.582													14	102					0	0	0	0	A	127245259	G	A	127245259	2	1	364	1	0	0	0	0	0	0	0	1	10706	1164	41	2		2	NR5A1	9	127245259	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1112673	127245259	13968172	1013	69942											
MAPKAP1	79109	broad.mit.edu	37	chr9	128321983	128321983	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaccagggccaaagtactGaagccaaacttatgaatggg	15	7	10	9	0	1	2	1	2	0	0	1	2	1	2	3	2	4	1	3	2	7	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:128321983G>A	ENST00000265960.3	-	6	1109	c.777C>T	c.(775-777)ttC>ttT	p.F259F	MAPKAP1_ENST00000350766.3_Silent_p.F259F|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000394063.1_Silent_p.F67F|MAPKAP1_ENST00000373503.3_Silent_p.F67F|MAPKAP1_ENST00000373511.2_Silent_p.F259F|MAPKAP1_ENST00000394060.3_Silent_p.F259F|MAPKAP1_ENST00000373498.1_Silent_p.F259F	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	259					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						CCAAAGTACTGAAGCCAAACT	0.483													7	47					0	0	0	0	A	128321983	G	A	128321983	2	1	364	1	0	0	0	0	0	0	0	1	9357	1281	45	2		2	MAPKAP1	9	128321983	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1076724	128321983	12891448	1014	69943											
RALGPS1	9649	broad.mit.edu	37	chr9	129931022	129931022	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtacgctacattgaagagctCcagaagtttgtggaagacga	13	9	12	7	2	0	4	0	1	0	3	1	6	1	5	1	1	3	4	1	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:129931022C>T	ENST00000259351.5	+	10	1080	c.813C>T	c.(811-813)ctC>ctT	p.L271L	RALGPS1_ENST00000373436.1_Silent_p.L271L|RALGPS1_ENST00000424082.2_Silent_p.L271L|RALGPS1_ENST00000373434.1_Silent_p.L271L|RALGPS1_ENST00000394022.3_Silent_p.L271L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	271	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TTGAAGAGCTCCAGAAGTTTG	0.517													19	136					0	0	0	0	T	129931022	C	T	129931022	2	4	364	1	0	0	0	0	0	0	0	1	13099	842	30	2		2	RALGPS1	9	129931022	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1609039	129931022	11282409	1015	69944											
PTRH1	138428	broad.mit.edu	37	chr9	130476448	130476448	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggtcggtggctcgatcCagcaacagaggcagcagctc	10	6	13	12	2	1	1	1	0	0	1	5	2	2	1	1	4	4	5	1	4	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:130476448C>T	ENST00000423807.1	-	4	893	c.530G>A	c.(529-531)tGg>tAg	p.W177*	PTRH1_ENST00000543175.1_Silent_p.L192L|PTRH1_ENST00000419060.1_Silent_p.L192L|C9orf117_ENST00000373293.5_Intron|C9orf117_ENST00000464092.1_3'UTR			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	21					translation		aminoacyl-tRNA hydrolase activity|protein binding			NS(1)	1						TGGCTCGATCCAGCAACAGAG	0.667													5	37					0	0	0	0	T	130476448	C	T	130476448	4	4	364	1	0	0	0	0	0	1	0	0	12898	581	21	4	72	4	PTRH1	9	130476448	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	545426	130476448	10736983	1016	69945											
ENG	2022	broad.mit.edu	37	chr9	130581106	130581106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgttgaggcagtgcacCtttttctgggggaggacggg	6	11	16	8	1	1	1	0	1	1	0	2	3	2	3	2	5	1	3	2	5	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:130581106C>T	ENST00000344849.3	-	11	1597	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	ENG_ENST00000480266.1_Intron|ENG_ENST00000373203.4_Silent_p.K439K|RP11-228B15.4_ENST00000425991.1_RNA|RP11-228B15.4_ENST00000439298.1_RNA			P17813	EGLN_HUMAN	endoglin	439	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGCAGTGCACCTTTTTCTGGG	0.637									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				77	158					0	0	0	0	T	130581106	C	T	130581106	2	4	364	1	0	0	0	0	0	0	0	1	5155	680	24	4		4	ENG	9	130581106	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	104658	130581106	10632325	1017	69946											
ASS1	445	broad.mit.edu	37	chr9	133346897	133346897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggctggaatcctggagaacCccaaggtaatcccccaaacc	13	5	9	14	0	0	1	0	0	0	1	2	3	2	2	6	4	2	2	6	4	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:133346897C>T	ENST00000372394.1	+	9	1073	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S	ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Missense_Mutation_p.P198S|ASS1_ENST00000352480.5_Missense_Mutation_p.P198S			P00966	ASSY_HUMAN	argininosuccinate synthase 1	198					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CCTGGAGAACCCCAAGGTAAT	0.562													19	35					0	0	0	0	T	133346897	C	T	133346897	3	4	364	1	0	0	0	0	1	0	0	0	1065	623	22	4	618	4	ASS1	9	133346897	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2765791	133346897	7866534	1018	69947											
FUBP3	8939	broad.mit.edu	37	chr9	133506164	133506164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggccaggcagctcatagatGagaaagttggcgtacgtaca	12	8	13	8	2	1	2	1	1	0	2	1	3	1	2	1	3	3	5	1	3	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:133506164G>A	ENST00000319725.9	+	13	1342	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	423					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GCTCATAGATGAGAAAGTTGG	0.567													11	25					0	0	0	0	A	133506164	G	A	133506164	3	1	364	1	0	0	0	0	1	0	0	0	6141	1291	45	2	1317	2	FUBP3	9	133506164	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	159267	133506164	7707267	1019	69948											
LAMC3	10319	broad.mit.edu	37	chr9	133928244	133928244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttctctcgccagcctgcagGagacctccgaggacgtggcc	6	7	12	16	3	1	1	0	0	1	1	4	4	2	2	5	3	2	1	5	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:133928244G>A	ENST00000361069.4	+	11	1964	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	611	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CAGCCTGCAGGAGACCTCCGA	0.687											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	44					0	0	0	0	A	133928244	G	A	133928244	3	1	364	1	0	0	0	0	1	0	0	0	8669	1175	41	2	1873	2	LAMC3	9	133928244	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	422080	133928244	7285187	1020	69949											
TSC1	7248	broad.mit.edu	37	chr9	135781032	135781032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgtccagcacttccattgGggaggtagagggcacaccat	9	9	12	11	0	1	1	0	0	1	1	3	2	3	2	3	4	1	3	3	4	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:135781032G>A	ENST00000298552.3	-	15	2154	c.1933C>T	c.(1933-1935)Cca>Tca	p.P645S	TSC1_ENST00000440111.2_Missense_Mutation_p.P645S|TSC1_ENST00000545250.1_Missense_Mutation_p.P594S	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	645					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACTTCCATTGGGGAGGTAGAG	0.498			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				13	106					0	0	0	0	A	135781032	G	A	135781032	3	1	364	1	0	0	0	0	1	0	0	0	16700	1232	43	4	1597	4	TSC1	9	135781032	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1852788	135781032	5432399	1021	69950											
GTF3C5	9328	broad.mit.edu	37	chr9	135917600	135917600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaggaagagaacgaggCggcagaaaggggtgctgggc	12	3	19	7	2	1	2	1	0	0	2	1	5	1	3	0	6	2	3	0	6	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:135917600C>T	ENST00000372097.5	+	2	603	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000342018.8_Missense_Mutation_p.R94W|GTF3C5_ENST00000372108.5_Missense_Mutation_p.R94W|GTF3C5_ENST00000372099.6_Missense_Mutation_p.R85W	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	94						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GAGAACGAGGCGGCAGAAAGG	0.572													15	130					0	0	0	0	T	135917600	C	T	135917600	3	4	364	1	0	0	0	0	1	0	0	0	6926	759	27	1	286	1	GTF3C5	9	135917600	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	136568	135917600	5295831	1022	69951											
GBGT1	26301	broad.mit.edu	37	chr9	136029195	136029195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctagtaaactcatatacCctggccacctgccccccgaa	10	7	5	19	1	1	0	1	0	0	0	1	1	1	0	8	1	3	1	8	1	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:136029195C>T	ENST00000372043.3	-	7	1079	c.794G>A	c.(793-795)gGg>gAg	p.G265E	RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Silent_p.R254R|GBGT1_ENST00000372040.3_Silent_p.R271R|GBGT1_ENST00000472281.1_5'UTR	NM_021996.4	NP_068836.2			globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACTCATATACCCTGGCCACCT	0.592													10	96					0	0	0	0	T	136029195	C	T	136029195	3	4	364	1	0	0	0	0	1	0	0	0	6321	622	22	4	234	4	GBGT1	9	136029195	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	111595	136029195	5184236	1023	69952											
ADAMTS13	11093	broad.mit.edu	37	chr9	136314957	136314957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggagaggggtcgtgcGgaggatcctgtattgtgccc	5	10	18	8	2	0	1	0	0	0	1	2	4	1	3	2	5	2	1	2	5	1	2	rs139951127		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:136314957G>A	ENST00000371929.3	+	23	3359	c.2915G>A	c.(2914-2916)cGg>cAg	p.R972Q	ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R941Q|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R972Q	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	972	TSP type-1 6.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGGGTCGTGCGGAGGATCCTG	0.667													27	95					0	0	0	0	A	136314957	G	A	136314957	3	1	364	1	0	0	0	0	1	0	0	0	258	1116	39	1	3005	1	ADAMTS13	9	136314957	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	285762	136314957	4898474	1024	69953											
COL5A1	1289	broad.mit.edu	37	chr9	137623462	137623462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accccaccagctccccgtcgGagatcgggccgggaatgccg	7	4	13	17	5	0	1	0	0	0	1	3	3	1	2	7	3	2	1	7	3	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:137623462G>A	ENST00000371817.3	+	8	1699	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	429	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCCCCGTCGGAGATCGGGCC	0.632													20	150					0	0	0	0	A	137623462	G	A	137623462	3	1	364	1	0	0	0	0	1	0	0	0	3726	1175	41	2	1315	2	COL5A1	9	137623462	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1308505	137623462	3589969	1025	69954											
COL5A1	1289	broad.mit.edu	37	chr9	137704485	137704485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctggcccccgaggaccctCcggagctccaggtgctgatg	5	6	13	17	2	0	1	0	1	0	0	2	4	2	3	6	4	2	2	6	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:137704485C>T	ENST00000371817.3	+	48	4193	c.3779C>T	c.(3778-3780)tCc>tTc	p.S1260F		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1260	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGAGGACCCTCCGGAGCTCCA	0.632													3	15					0	0	0	0	T	137704485	C	T	137704485	3	4	364	1	0	0	0	0	1	0	0	0	3726	855	30	2	3969	2	COL5A1	9	137704485	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	81023	137704485	3508946	1026	69955											
SEC16A	9919	broad.mit.edu	37	chr9	139338337	139338337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagggccccctgcagcagGgaggtcgccaggagcctgag	7	3	19	12	1	0	1	0	1	0	0	1	4	0	4	4	5	3	2	4	5	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:139338337G>A	ENST00000313050.7	-	29	7016	c.6943C>T	c.(6943-6945)Cct>Tct	p.P2315S	SEC16A_ENST00000371706.3_Missense_Mutation_p.P2092S|SEC16A_ENST00000431893.2_Missense_Mutation_p.P2112S|SEC16A_ENST00000313084.5_Missense_Mutation_p.P343S|SEC16A_ENST00000290037.6_Missense_Mutation_p.P2117S|SEC16A_ENST00000467838.1_5'UTR	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2137					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCTGCAGCAGGGAGGTCGCCA	0.612													4	44					0	0	0	0	A	139338337	G	A	139338337	3	1	364	1	0	0	0	0	1	0	0	0	14073	1232	43	4	138	4	SEC16A	9	139338337	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1633852	139338337	1875094	1027	69956											
ENTPD2	954	broad.mit.edu	37	chr9	139944949	139944949	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acatccccgagcagcacttgGgtggaaaagcccctcggcca	10	5	11	15	2	0	0	0	0	0	0	2	2	1	1	5	3	3	2	5	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:139944949G>A	ENST00000355097.2	-	6	863	c.816C>T	c.(814-816)acC>acT	p.T272T	ENTPD2_ENST00000312665.5_Silent_p.T272T	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	272						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGCACTTGGGTGGAAAAGC	0.647											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	30					0	0	0	0	A	139944949	G	A	139944949	2	1	364	1	0	0	0	0	0	0	0	1	5177	1219	43	4		4	ENTPD2	9	139944949	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	606612	139944949	1268482	1028	69957											
ANAPC2	29882	broad.mit.edu	37	chr9	140078134	140078134	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacacagcacctggatgcagGagccgagtctccagggcagc	10	4	13	14	1	1	0	0	0	1	0	2	3	1	2	3	3	4	3	3	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140078134G>A	ENST00000323927.2	-	5	1162	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	386					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)		CTGGATGCAGGAGCCGAGTCT	0.657													3	19					0	0	0	0	A	140078134	G	A	140078134	2	1	364	1	0	0	0	0	0	0	0	1	603	1161	41	2		2	ANAPC2	9	140078134	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	133185	140078134	1135297	1029	69958											
FAM166A	401565	broad.mit.edu	37	chr9	140139886	140139886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acggagggtgcggggtgtcgGgcgtgaagcctgcaggcagc	6	5	21	9	4	0	1	0	1	0	0	1	2	0	2	1	6	4	2	1	6	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140139886G>A	ENST00000344774.4	-	3	449	c.395C>T	c.(394-396)cCc>cTc	p.P132L	FAM166A_ENST00000388932.2_Missense_Mutation_p.P132L	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	132										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CGGGGTGTCGGGCGTGAAGCC	0.642													18	118					0	0	0	0	A	140139886	G	A	140139886	3	1	364	1	0	0	0	0	1	0	0	0	5522	1232	43	4	578	4	FAM166A	9	140139886	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	61752	140139886	1073545	1030	69959											
NOXA1	10811	broad.mit.edu	37	chr9	140323432	140323432	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaagtggccggaggggtcCctgaatggcctggactcagc	7	7	15	12	1	1	1	1	1	0	0	3	3	3	3	4	6	1	0	4	6	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140323432C>T	ENST00000341349.2	+	4	648	c.468C>T	c.(466-468)tcC>tcT	p.S156S	NOXA1_ENST00000392815.2_Silent_p.S156S	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	156	Mediates interaction with RAC1.				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CGGAGGGGTCCCTGAATGGCC	0.622													3	11					0	0	0	0	T	140323432	C	T	140323432	2	4	364	1	0	0	0	0	0	0	0	1	10630	610	22	4		4	NOXA1	9	140323432	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	183546	140323432	889999	1031	69960											
PNPLA7	375775	broad.mit.edu	37	chr9	140358627	140358627	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatgtcggtggtgatggcGaaataaggaatccacaggtc	11	9	15	6	2	0	2	0	2	0	0	3	4	1	3	1	5	0	0	1	5	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140358627G>A	ENST00000406427.1	-	28	3513	c.3177C>T	c.(3175-3177)ttC>ttT	p.F1059F	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Silent_p.F1034F|PNPLA7_ENST00000371457.1_Silent_p.F640F	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1034	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGTGATGGCGAAATAAGGAA	0.672													7	35					0	0	0	0	A	140358627	G	A	140358627	2	1	364	1	0	0	0	0	0	0	0	1	12242	1049	37	1		1	PNPLA7	9	140358627	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	35195	140358627	854804	1032	69961											
PNPLA7	375775	broad.mit.edu	37	chr9	140389515	140389515	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgcttgatggacgtgagGgctcctgccggcagcttggc	4	9	16	12	3	0	2	0	2	0	0	1	3	1	3	2	4	3	4	2	4	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140389515G>A	ENST00000406427.1	-	19	2433	c.2097C>T	c.(2095-2097)gcC>gcT	p.A699A	PNPLA7_ENST00000277531.4_Silent_p.A674A|PNPLA7_ENST00000371457.1_Silent_p.A280A	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	674					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGACGTGAGGGCTCCTGCCG	0.647													13	75					0	0	0	0	A	140389515	G	A	140389515	2	1	364	1	0	0	0	0	0	0	0	1	12242	1219	43	4		4	PNPLA7	9	140389515	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	30888	140389515	823916	1033	69962											
EHMT1	79813	broad.mit.edu	37	chr9	140611609	140611609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtccacagggcacgcaagaCcatgccgaagtccgtcgtgg	9	5	14	13	4	0	1	0	0	0	1	3	2	2	1	4	3	1	2	4	3	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140611609C>T	ENST00000460843.1	+	3	644	c.617C>T	c.(616-618)aCc>aTc	p.T206I	EHMT1_ENST00000462484.1_Missense_Mutation_p.T206I|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.T175I	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	206					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCACGCAAGACCATGCCGAAG	0.572													13	57					0	0	0	0	T	140611609	C	T	140611609	3	4	364	1	0	0	0	0	1	0	0	0	5019	507	18	4	627	4	EHMT1	9	140611609	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	222094	140611609	601822	1034	69963											
NET1	10276	broad.mit.edu	37	chr10	5498571	5498571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaaaaatatctttagaattCgcttccatgacccctctcca	12	13	3	13	1	2	2	0	1	2	1	5	2	3	2	4	0	0	1	4	0	6	6	rs150542987		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:5498571C>T	ENST00000355029.4	+	12	1547	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	NET1_ENST00000542715.1_Missense_Mutation_p.R288C|NET1_ENST00000380359.3_Missense_Mutation_p.R415C	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	469	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	p.R469C(1)|p.R415C(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CTTTAGAATTCGCTTCCATGA	0.403													15	75					0	0	0	0	T	5498571	C	T	5498571	3	4	364	1	0	0	0	0	1	0	0	0	10408	884	31	1	1548	1	NET1	10	5498571	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08		5498571	130036176	1035	69964											
FBXO18	84893	broad.mit.edu	37	chr10	5966446	5966446	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgcaaaggatagaaaaatgCcatatagaagatttggactt	17	10	10	4	0	0	3	0	0	0	3	0	5	0	5	1	2	2	1	1	2	7	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:5966446C>T	ENST00000379999.5	+	18	2828	c.2724C>T	c.(2722-2724)tgC>tgT	p.C908C	FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000397269.3_Silent_p.C344C|FBXO18_ENST00000362091.4_Silent_p.C857C	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	857					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TAGAAAAATGCCATATAGAAG	0.433													9	24					0	0	0	0	T	5966446	C	T	5966446	2	4	364	1	0	0	0	0	0	0	0	1	5776	747	26	4		4	FBXO18	10	5966446	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	467875	5966446	129568301	1036	69965											
PRKCQ	5588	broad.mit.edu	37	chr10	6540382	6540382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaactcgtggcagacagagCaaaatgtgggctgtgggaag	13	6	15	7	1	0	2	0	0	0	2	1	3	0	3	0	3	2	3	0	3	4	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:6540382C>A	ENST00000263125.5	-	5	617	c.518G>T	c.(517-519)tGc>tTc	p.C173F	PRKCQ_ENST00000397176.2_Missense_Mutation_p.C173F|PRKCQ_ENST00000539722.1_Missense_Mutation_p.C48F	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	173					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GCAGACAGAGCAAAATGTGGG	0.527													23	83					3.28513e-13	3.37745e-13	1	0	A	6540382	C	A	6540382	3	1	364	1	0	0	0	0	1	0	0	0	12595	710	25	4	1658	4	PRKCQ	10	6540382	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	573936	6540382	128994365	1037	69966											
SFMBT2	57713	broad.mit.edu	37	chr10	7214518	7214518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtttcttctgcacgaaaatgGatttccgtcgcttcctccgc	6	14	8	13	4	2	0	0	0	2	0	6	2	5	1	3	1	1	3	3	1	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:7214518G>A	ENST00000361972.4	-	18	2180	c.2090C>T	c.(2089-2091)tCc>tTc	p.S697F	SFMBT2_ENST00000397167.1_Missense_Mutation_p.S697F	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	697					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CACGAAAATGGATTTCCGTCG	0.602													10	49					0	0	0	0	A	7214518	G	A	7214518	3	1	364	1	0	0	0	0	1	0	0	0	14245	1174	41	2	610	2	SFMBT2	10	7214518	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	674136	7214518	128320229	1038	69967											
NUDT5	11164	broad.mit.edu	37	chr10	12219884	12219884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagtgttctctgcagcacgGggatgaccgcgacacctgtc	8	8	13	12	3	1	1	0	1	1	0	3	4	1	2	2	2	2	3	2	2	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:12219884G>A	ENST00000491614.1	-	5	592	c.197C>T	c.(196-198)cCc>cTc	p.P66L	NUDT5_ENST00000378940.3_Missense_Mutation_p.P66L|NUDT5_ENST00000537776.1_Missense_Mutation_p.P66L|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Missense_Mutation_p.P79L|NUDT5_ENST00000378927.3_Missense_Mutation_p.P66L			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	66	Nudix hydrolase.				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CTGCAGCACGGGGATGACCGC	0.502													7	38					0	0	0	0	A	12219884	G	A	12219884	3	1	364	1	0	0	0	0	1	0	0	0	10813	1232	43	4	486	4	NUDT5	10	12219884	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5005366	12219884	123314863	1039	69968											
CUBN	8029	broad.mit.edu	37	chr10	16948290	16948290	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaaatggatgaatttccCtgatttggattgctgagagt	11	14	12	4	0	0	3	0	3	0	1	1	7	1	6	1	3	1	1	1	3	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:16948290C>T	ENST00000377833.4	-	50	7889	c.7824G>A	c.(7822-7824)caG>caA	p.Q2608Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2608	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGAATTTCCCTGATTTGGAT	0.413													8	87					0	0	0	0	T	16948290	C	T	16948290	2	4	364	1	0	0	0	0	0	0	0	1	4083	680	24	4		4	CUBN	10	16948290	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4728406	16948290	118586457	1040	69969											
GPR158	57512	broad.mit.edu	37	chr10	25878064	25878064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatctctgctatattcCatacaattaggcaagtgatc	12	14	5	10	0	3	1	2	1	1	0	6	1	4	1	1	1	2	2	1	1	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:25878064C>T	ENST00000376351.3	+	8	2241	c.1882C>T	c.(1882-1884)Cat>Tat	p.H628Y		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	628				ELIISAIFHTI -> SWIVNSMNSHF (in Ref. 3).		integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGCTATATTCCATACAATTAG	0.378													11	40					0	0	0	0	T	25878064	C	T	25878064	3	4	364	1	0	0	0	0	1	0	0	0	6712	594	21	4	1912	4	GPR158	10	25878064	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	8929774	25878064	109656683	1041	69970											
GAD2	2572	broad.mit.edu	37	chr10	26518694	26518694	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcccaggctcattgccttCacgtctgaacatgtatgtgt	7	14	8	12	1	3	1	2	1	1	0	4	1	4	1	2	1	2	2	2	1	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:26518694C>T	ENST00000376261.3	+	7	1331	c.828C>T	c.(826-828)ttC>ttT	p.F276F	GAD2_ENST00000259271.3_Silent_p.F276F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	276					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TCATTGCCTTCACGTCTGAAC	0.448													18	28					0	0	0	0	T	26518694	C	T	26518694	2	4	364	1	0	0	0	0	0	0	0	1	6228	825	29	2		2	GAD2	10	26518694	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	640630	26518694	109016053	1042	69971											
ANKRD26	22852	broad.mit.edu	37	chr10	27324456	27324456	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaacactaagccgtccatTatactgggatattgtttgtg	11	13	9	8	1	0	1	0	0	0	1	1	2	1	2	2	1	3	1	2	1	5	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:27324456T>A	ENST00000376087.4	-	24	3088	c.2923A>T	c.(2923-2925)Aat>Tat	p.N975Y	ANKRD26_ENST00000436985.2_Missense_Mutation_p.N991Y|ANKRD26_ENST00000376070.3_Missense_Mutation_p.N532Y	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	974						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AGCCGTCCATTATACTGGGAT	0.353													34	62					0	0	0	0	A	27324456	T	A	27324456	3	1	364	1	0	0	0	0	1	0	0	0	654	1754	61	5	2253	5	ANKRD26	10	27324456	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	805762	27324456	108210291	1043	69972											
PTCHD3	374308	broad.mit.edu	37	chr10	27687894	27687894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagcataggcagactacttCtcttttaccatccaaggcca	11	10	6	14	0	1	1	0	0	1	1	3	1	2	1	4	2	3	2	4	2	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:27687894C>T	ENST00000438700.3	-	4	1750	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	545					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGACTACTTCTCTTTTACCA	0.393													17	62					0	0	0	0	T	27687894	C	T	27687894	3	4	364	1	0	0	0	0	1	0	0	0	12813	922	32	2	674	2	PTCHD3	10	27687894	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	363438	27687894	107846853	1044	69973											
KIAA1462	57608	broad.mit.edu	37	chr10	30315322	30315322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtcagggtctgctctcCtaggcggggaggccagtttc	4	9	17	11	2	3	0	1	0	2	0	5	1	3	1	2	7	1	2	2	7	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:30315322C>T	ENST00000375377.1	-	3	3856	c.3755G>A	c.(3754-3756)aGg>aAg	p.R1252K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1252										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTCTGCTCTCCTAGGCGGGGA	0.522													14	53					0	0	0	0	T	30315322	C	T	30315322	3	4	364	1	0	0	0	0	1	0	0	0	8285	681	24	4	332	4	KIAA1462	10	30315322	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2627428	30315322	105219425	1045	69974											
ITGB1	3688	broad.mit.edu	37	chr10	33208967	33208967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aattttaaagctgtcagaatCcttttttggacacttatttg	11	18	6	6	0	1	1	1	0	0	1	2	2	2	2	1	1	1	1	1	1	5	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:33208967C>T	ENST00000396033.2	-	11	1450	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	ITGB1_ENST00000374956.4_Missense_Mutation_p.D439N|ITGB1_ENST00000423113.1_Missense_Mutation_p.D439N|ITGB1_ENST00000302278.3_Missense_Mutation_p.D439N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	439					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CTGTCAGAATCCTTTTTTGGA	0.348													62	112					0	0	0	0	T	33208967	C	T	33208967	3	4	364	1	0	0	0	0	1	0	0	0	7943	855	30	2	1343	2	ITGB1	10	33208967	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2893645	33208967	102325780	1046	69975											
ITGB1	3688	broad.mit.edu	37	chr10	33217084	33217084	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctgttccaagactttttAcattctccaaatcgtctttc	9	17	4	11	1	3	1	0	0	3	1	7	2	4	1	2	0	1	1	2	0	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:33217084A>C	ENST00000396033.2	-	5	620	c.485T>G	c.(484-486)gTa>gGa	p.V162G	ITGB1_ENST00000374956.4_Missense_Mutation_p.V162G|ITGB1_ENST00000423113.1_Missense_Mutation_p.V162G|ITGB1_ENST00000302278.3_Missense_Mutation_p.V162G|ITGB1_ENST00000484088.1_Intron	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	162	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				AAGACTTTTTACATTCTCCAA	0.363													26	79					0	0	0	0	C	33217084	A	C	33217084	3	2	364	1	0	0	0	0	1	0	0	0	7943	391	14	5	2197	5	ITGB1	10	33217084	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	8117	33217084	102317663	1047	69976											
ZNF239	8187	broad.mit.edu	37	chr10	44052301	44052301	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaactctggctaaatcccttCccacacttgccacagtgata	11	10	6	14	0	1	1	0	1	1	0	3	2	3	1	3	1	2	1	3	1	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:44052301C>T	ENST00000306006.6	-	2	1879	c.1227G>A	c.(1225-1227)ggG>ggA	p.G409G	ZNF239_ENST00000426961.1_Silent_p.G409G|ZNF239_ENST00000535642.1_Silent_p.G409G|ZNF239_ENST00000374446.2_Silent_p.G409G	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAAATCCCTTCCCACACTTGC	0.522													6	39					0	0	0	0	T	44052301	C	T	44052301	2	4	364	1	0	0	0	0	0	0	0	1	17886	842	30	2		2	ZNF239	10	44052301	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	10835217	44052301	91482446	1048	69977											
RBP3	5949	broad.mit.edu	37	chr10	48390169	48390169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgatgtcctcggccacgcCcctggtctggctgctggtga	3	9	14	15	4	1	1	0	1	1	0	3	2	2	1	4	4	1	2	4	4	0	0	rs139362090		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:48390169C>T	ENST00000224600.4	-	1	822	c.709G>A	c.(709-711)Ggc>Agc	p.G237S		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	237	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCGGCCACGCCCCTGGTCTGG	0.657													10	25					0	0	0	0	T	48390169	C	T	48390169	3	4	364	1	0	0	0	0	1	0	0	0	13239	623	22	4	3050	4	RBP3	10	48390169	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4337868	48390169	87144578	1049	69978											
GDF10	2662	broad.mit.edu	37	chr10	48428967	48428967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcgcgcggcggcctctcatCcagccccggcagctcgttgt	3	7	14	17	6	1	0	1	0	1	0	4	0	2	0	4	4	2	3	4	4	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:48428967C>T	ENST00000224605.2	-	2	1184	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	307					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGCCTCTCATCCAGCCCCGGC	0.746													3	13					0	0	0	0	T	48428967	C	T	48428967	3	4	364	1	0	0	0	0	1	0	0	0	6362	855	30	2	525	2	GDF10	10	48428967	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	38798	48428967	87105780	1050	69979											
ARID5B	84159	broad.mit.edu	37	chr10	63851606	63851606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaagcatcaccttaaccCccttgctgactcctacgtcc	8	10	4	19	1	1	1	1	1	0	0	4	1	4	1	6	0	4	2	6	0	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:63851606C>T	ENST00000279873.7	+	10	2794	c.2384C>T	c.(2383-2385)cCc>cTc	p.P795L	ARID5B_ENST00000309334.5_Missense_Mutation_p.P552L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	795					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CACCTTAACCCCCTTGCTGAC	0.507													75	60					0	0	0	0	T	63851606	C	T	63851606	3	4	364	1	0	0	0	0	1	0	0	0	924	623	22	4	2422	4	ARID5B	10	63851606	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	15422639	63851606	71683141	1051	69980											
JMJD1C	221037	broad.mit.edu	37	chr10	64974629	64974629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcctgtatttgatcccagGgaggctggctattttttagg	6	16	11	8	0	0	1	0	1	0	0	2	2	2	2	2	4	0	3	2	4	3	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:64974629G>A	ENST00000399262.2	-	8	1516	c.1298C>T	c.(1297-1299)cCc>cTc	p.P433L	JMJD1C_ENST00000402544.1_Missense_Mutation_p.P214L|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P251L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P214L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	433					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGATCCCAGGGAGGCTGGCT	0.363													41	59					0	0	0	0	A	64974629	G	A	64974629	3	1	364	1	0	0	0	0	1	0	0	0	8003	1232	43	4	6400	4	JMJD1C	10	64974629	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1123023	64974629	70560118	1052	69981											
CTNNA3	29119	broad.mit.edu	37	chr10	67862933	67862933	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctatcagttttcccttcGgtctgaatgctggtgtgact	6	15	9	11	1	2	2	1	2	1	0	4	2	3	2	2	2	1	2	2	2	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:67862933G>A	ENST00000433211.1	-	14	2133	c.1959C>T	c.(1957-1959)acC>acT	p.T653T	CTNNA3_ENST00000373744.4_Silent_p.T653T	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	653					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTTTCCCTTCGGTCTGAATGC	0.488													15	51					0	0	0	0	A	67862933	G	A	67862933	2	1	364	1	0	0	0	0	0	0	0	1	4046	1103	39	1		1	CTNNA3	10	67862933	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2888304	67862933	67671814	1053	69982											
DNA2	1763	broad.mit.edu	37	chr10	70190226	70190226	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcttctagaagagctaaGgatttaatggactttgatct	12	15	9	5	0	3	3	0	1	3	2	3	5	3	5	0	2	1	2	0	2	4	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:70190226G>A	ENST00000399180.2	-	14	2432	c.2433C>T	c.(2431-2433)tcC>tcT	p.S811S	DNA2_ENST00000358410.3_Silent_p.S725S|DNA2_ENST00000399179.2_Intron			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	725					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GAAGAGCTAAGGATTTAATGG	0.358													7	16					0	0	0	0	A	70190226	G	A	70190226	2	1	364	1	0	0	0	0	0	0	0	1	4633	987	35	4		4	DNA2	10	70190226	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2327293	70190226	65344521	1054	69983											
HKDC1	80201	broad.mit.edu	37	chr10	70998852	70998852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacgaggagttcaggacacgGatgtggtgagccgtctgacc	9	7	15	10	3	2	2	1	2	1	0	2	6	2	5	2	4	1	1	2	4	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:70998852G>A	ENST00000354624.5	+	5	683	c.550G>A	c.(550-552)Gat>Aat	p.D184N	HKDC1_ENST00000395086.2_Missense_Mutation_p.D184N	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	184					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCAGGACACGGATGTGGTGAG	0.512													18	15					0	0	0	0	A	70998852	G	A	70998852	3	1	364	1	0	0	0	0	1	0	0	0	7243	1174	41	2	568	2	HKDC1	10	70998852	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	808626	70998852	64535895	1055	69984											
CDH23	64072	broad.mit.edu	37	chr10	73570315	73570315	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgataccaaccgcatcctGgacgtggaccggtgagtcgg	8	6	14	13	6	0	1	0	1	0	0	2	4	1	3	4	4	2	1	4	4	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:73570315G>A	ENST00000224721.6	+	61	9086	c.9081G>A	c.(9079-9081)ctG>ctA	p.L3027L	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.L782L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3022					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCGCATCCTGGACGTGGACC	0.592													20	19					0	0	0	0	A	73570315	G	A	73570315	2	1	364	1	0	0	0	0	0	0	0	1	3137	1335	47	4		4	CDH23	10	73570315	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2571463	73570315	61964432	1056	69985											
DLG5	9231	broad.mit.edu	37	chr10	79581719	79581719	+	Silent	SNP	G	G	A																															tagaagatgtctgtctgcgtGgagttattgtgctgtatcaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:79581719G>A	ENST00000372391.2	-	15	2528	c.2523C>T	c.(2521-2523)tcC>tcT	p.S841S	DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	841					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGTCTGCGTGGAGTTATTGT	0.522													63	54					0	0	0	0	A	79581719	G	A	79581719	2	1	364	1	0	0	0	0	0	0	0	1	4595	1335	47	4		4	DLG5	10	79581719	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6011404	79581719	55953028	1057	69986	899	2									
DLG5	9231	broad.mit.edu	37	chr10	79581720	79581720	+	Missense_Mutation	SNP	G	G	A																															agaagatgtctgtctgcgtgGagttattgtgctgtatcaag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:79581720G>A	ENST00000372391.2	-	15	2527	c.2522C>T	c.(2521-2523)tCc>tTc	p.S841F	DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	841					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGTCTGCGTGGAGTTATTGTG	0.517													61	55					0	0	0	0	A	79581720	G	A	79581720	3	1	364	1	0	0	0	0	1	0	0	0	4595	1174	41	2	3309	2	DLG5	10	79581720	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	79581720	55953027	1058	69987	899	2									
NRG3	10718	broad.mit.edu	37	chr10	84498353	84498353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgcaaagaaggctaccaagGagtccgttgtgatcaatttc	12	10	11	8	1	1	2	1	1	0	1	3	3	2	3	2	2	2	3	2	2	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:84498353G>A	ENST00000372142.2	+	4	585	c.311G>A	c.(310-312)gGa>gAa	p.G104E	NRG3_ENST00000556918.1_Missense_Mutation_p.G155E|NRG3_ENST00000404547.1_Missense_Mutation_p.G325E|NRG3_ENST00000404576.2_Missense_Mutation_p.G129E|NRG3_ENST00000372141.2_Missense_Mutation_p.G325E	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	325					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGCTACCAAGGAGTCCGTTGT	0.393													51	31					0	0	0	0	A	84498353	G	A	84498353	3	1	364	1	0	0	0	0	1	0	0	0	10720	1174	41	2	1152	2	NRG3	10	84498353	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4916633	84498353	51036394	1059	69988											
NRG3	10718	broad.mit.edu	37	chr10	84745339	84745339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaagaaatgaaatacaaaGagactctgcattgaccaagt	18	9	7	7	0	1	4	0	2	1	2	1	5	1	4	1	0	2	1	1	0	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:84745339G>A	ENST00000372142.2	+	11	1752	c.1478G>A	c.(1477-1479)aGa>aAa	p.R493K	NRG3_ENST00000537893.1_Missense_Mutation_p.R340K|NRG3_ENST00000556918.1_Missense_Mutation_p.R520K|NRG3_ENST00000545131.1_Missense_Mutation_p.R340K|NRG3_ENST00000404547.1_Missense_Mutation_p.R714K|NRG3_ENST00000404576.2_Missense_Mutation_p.R494K|NRG3_ENST00000372141.2_Missense_Mutation_p.R690K	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	714					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAAATACAAAGAGACTCTGCA	0.418													11	49					0	0	0	0	A	84745339	G	A	84745339	3	1	364	1	0	0	0	0	1	0	0	0	10720	942	33	2	2347	2	NRG3	10	84745339	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	246986	84745339	50789408	1060	69989											
WAPAL	23063	broad.mit.edu	37	chr10	88260013	88260013	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgattcaggccatctttactCgattcactgtttgctttggc	6	17	8	10	1	3	1	2	1	1	0	4	2	3	1	1	2	2	2	1	2	1	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:88260013C>T	ENST00000298767.5	-	3	1459	c.987G>A	c.(985-987)tcG>tcA	p.S329S		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	329	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CATCTTTACTCGATTCACTGT	0.458													16	80					0	0	0	0	T	88260013	C	T	88260013	2	4	364	1	0	0	0	0	0	0	0	1	17344	871	31	1		1	WAPAL	10	88260013	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3514674	88260013	47274734	1061	69990											
TLL2	7093	broad.mit.edu	37	chr10	98157001	98157001	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgctgcggaactccacCcagagccggctgtccgtgga	6	7	13	15	3	0	1	0	0	0	1	2	3	2	3	4	3	5	3	4	3	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:98157001C>T	ENST00000357947.3	-	11	1551	c.1326G>A	c.(1324-1326)tgG>tgA	p.W442*	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	442	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGAACTCCACCCAGAGCCGGC	0.582													19	18					0	0	0	0	T	98157001	C	T	98157001	4	4	364	1	0	0	0	0	0	1	0	0	16040	624	22	4	1765	4	TLL2	10	98157001	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	9896988	98157001	37377746	1062	69991											
LOXL4	84171	broad.mit.edu	37	chr10	100016640	100016640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctcccccagcgtgggaccCcgttcacctccacctgcacc	5	6	8	22	3	1	0	1	0	0	0	3	1	3	1	8	1	2	3	8	1	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:100016640C>T	ENST00000260702.3	-	9	1475	c.1325G>A	c.(1324-1326)gGg>gAg	p.G442E		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	442	SRCR 4.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCGTGGGACCCCGTTCACCTC	0.647													13	43					0	0	0	0	T	100016640	C	T	100016640	3	4	364	1	0	0	0	0	1	0	0	0	8966	623	22	4	973	4	LOXL4	10	100016640	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1859639	100016640	35518107	1063	69992											
PYROXD2	84795	broad.mit.edu	37	chr10	100174846	100174846	+	Missense_Mutation	SNP	G	G	A																															ctcgtctccacgccgggaagGgagaggcggccacagccttg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:100174846G>A	ENST00000370575.4	-	1	95	c.47C>T	c.(46-48)cCc>cTc	p.P16L		NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	16							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CGCCGGGAAGGGAGAGGCGGC	0.592													23	64					0	0	0	0	A	100174846	G	A	100174846	3	1	364	1	0	0	0	0	1	0	0	0	12949	1232	43	4	1762	4	PYROXD2	10	100174846	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	158206	100174846	35359901	1064	69993	900	2									
PYROXD2	84795	broad.mit.edu	37	chr10	100174847	100174847	+	Missense_Mutation	SNP	G	G	A																															tcgtctccacgccgggaaggGagaggcggccacagccttgc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:100174847G>A	ENST00000370575.4	-	1	94	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S		NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	16							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GCCGGGAAGGGAGAGGCGGCC	0.592													23	64					0	0	0	0	A	100174847	G	A	100174847	3	1	364	1	0	0	0	0	1	0	0	0	12949	1174	41	2	1763	2	PYROXD2	10	100174847	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	100174847	35359900	1065	69994	900	2									
HPS1	3257	broad.mit.edu	37	chr10	100179847	100179847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagcagtagaaatccccCtcctggaacagcagcgtggt	11	7	12	11	1	0	1	0	0	0	1	2	3	2	3	3	3	4	3	3	3	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:100179847C>T	ENST00000325103.6	-	18	2045	c.1812G>A	c.(1810-1812)gaG>gaA	p.E604E	HPS1_ENST00000361490.4_Silent_p.E604E|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	604					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGAAATCCCCCTCCTGGAACA	0.582									Hermansky-Pudlak syndrome				58	102					0	0	0	0	T	100179847	C	T	100179847	2	4	364	1	0	0	0	0	0	0	0	1	7389	680	24	4		4	HPS1	10	100179847	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5000	100179847	35354900	1066	69995											
GOT1	2805	broad.mit.edu	37	chr10	101163324	101163324	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccgcacgatcttctccatCtgggaaaggacttgcaggat	10	10	10	11	2	3	0	0	0	3	0	5	4	4	3	2	3	1	2	2	3	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101163324C>T	ENST00000370508.5	-	7	888	c.861G>A	c.(859-861)caG>caA	p.Q287Q	GOT1_ENST00000543866.1_Silent_p.Q266Q	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	287					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCTTCTCCATCTGGGAAAGGA	0.537													47	77					0	0	0	0	T	101163324	C	T	101163324	2	4	364	1	0	0	0	0	0	0	0	1	6627	912	32	2		2	GOT1	10	101163324	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	983477	101163324	34371423	1067	69996											
ABCC2	1244	broad.mit.edu	37	chr10	101556903	101556903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgacactcgaggatgtctggGaagttgatgaagagatgaaa	14	9	14	4	1	1	5	0	4	1	1	2	9	1	7	0	2	0	1	0	2	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101556903G>A	ENST00000370449.4	+	7	795	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	ABCC2_ENST00000370434.1_Missense_Mutation_p.E228K	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	228						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGATGTCTGGGAAGTTGATGA	0.527													43	30					0	0	0	0	A	101556903	G	A	101556903	3	1	364	1	0	0	0	0	1	0	0	0	53	1175	41	2	708	2	ABCC2	10	101556903	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	393579	101556903	33977844	1068	69997											
CPN1	1369	broad.mit.edu	37	chr10	101816815	101816815	+	Silent	SNP	C	C	T																															tcccgattacccagccactcCcgctgtaactcctcttcggg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101816815C>T	ENST00000370418.3	-	6	1217	c.966G>A	c.(964-966)cgG>cgA	p.R322R		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	322	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCAGCCACTCCCGCTGTAACT	0.453													196	96					0	0	0	0	T	101816815	C	T	101816815	2	4	364	1	0	0	0	0	0	0	0	1	3839	610	22	4		4	CPN1	10	101816815	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	259912	101816815	33717932	1069	69998	901	2									
CPN1	1369	broad.mit.edu	37	chr10	101816816	101816816	+	Missense_Mutation	SNP	C	C	T																															cccgattacccagccactccCgctgtaactcctcttcgggg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101816816C>T	ENST00000370418.3	-	6	1216	c.965G>A	c.(964-966)cGg>cAg	p.R322Q		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	322	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CAGCCACTCCCGCTGTAACTC	0.453													191	95					0	0	0	0	T	101816816	C	T	101816816	3	4	364	1	0	0	0	0	1	0	0	0	3839	652	23	1	427	1	CPN1	10	101816816	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	101816816	33717931	1070	69999	901	2									
CPN1	1369	broad.mit.edu	37	chr10	101824951	101824951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttctccacataccttctgGaagagcttgtcgtcaggcgt	7	12	10	12	2	3	1	1	0	2	1	5	2	3	2	2	2	2	2	2	2	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101824951G>A	ENST00000370418.3	-	4	1004	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	251	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATACCTTCTGGAAGAGCTTGT	0.612													45	34					0	0	0	0	A	101824951	G	A	101824951	2	1	364	1	0	0	0	0	0	0	0	1	3839	1165	41	2		2	CPN1	10	101824951	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	8135	101824951	33709796	1071	70000											
CHUK	1147	broad.mit.edu	37	chr10	101982730	101982730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttacaacattggcatGgttcaacctaataagaaaga	15	10	8	8	0	1	2	1	0	0	2	1	2	1	2	2	3	3	2	2	3	6	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101982730G>A	ENST00000370397.7	-	3	294	c.208C>T	c.(208-210)Cat>Tat	p.H70Y		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	70	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		ACATTGGCATGGTTCAACCTA	0.338													35	18					0	0	0	0	A	101982730	G	A	101982730	3	1	364	1	0	0	0	0	1	0	0	0	3445	1348	47	4	2105	4	CHUK	10	101982730	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	157779	101982730	33552017	1072	70001											
SEC31B	25956	broad.mit.edu	37	chr10	102249490	102249490	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtttcccctgggggcTggggcttctttccaggaatc	4	12	15	10	0	1	0	0	0	1	0	4	2	3	2	3	7	0	3	3	7	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:102249490T>A	ENST00000370345.3	-	22	3091	c.2994A>T	c.(2992-2994)ccA>ccT	p.P998P		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	998	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCCTGGGGGCTGGGGCTTCTT	0.468													14	76					0	0	0	0	A	102249490	T	A	102249490	2	1	364	1	0	0	0	0	0	0	0	1	14086	1567	55	5		5	SEC31B	10	102249490	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	266760	102249490	33285257	1073	70002											
NOLC1	9221	broad.mit.edu	37	chr10	103920272	103920272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtaccaccaagaattcttCaaataagccagctgtcacca	14	9	6	12	0	3	1	2	0	1	1	3	1	3	1	4	1	3	2	4	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:103920272C>T	ENST00000405356.1	+	10	1428	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L	NOLC1_ENST00000605788.1_Missense_Mutation_p.S388L|NOLC1_ENST00000603742.1_Missense_Mutation_p.S107L|NOLC1_ENST00000488254.2_Missense_Mutation_p.S389L			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	388	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AAGAATTCTTCAAATAAGCCA	0.532													25	74					0	0	0	0	T	103920272	C	T	103920272	3	4	364	1	0	0	0	0	1	0	0	0	10599	838	29	2	1201	2	NOLC1	10	103920272	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1670782	103920272	31614475	1074	70003											
PSD	5662	broad.mit.edu	37	chr10	104173829	104173829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgaggctggtataggaggtgCctttggcccggtgtgactcc	5	10	16	10	2	0	1	0	1	0	0	1	3	1	2	3	6	1	2	3	6	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:104173829C>T	ENST00000020673.5	-	5	1776	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D	PSD_ENST00000406432.1_Missense_Mutation_p.G417D	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	417					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ATAGGAGGTGCCTTTGGCCCG	0.622													16	45					0	0	0	0	T	104173829	C	T	104173829	3	4	364	1	0	0	0	0	1	0	0	0	12725	739	26	4	1876	4	PSD	10	104173829	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	253557	104173829	31360918	1075	70004											
TAF5	6877	broad.mit.edu	37	chr10	105139526	105139526	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaatgctccacctcagaaCaggtgaggaaaaaacttcag	15	6	8	12	0	2	2	2	1	0	1	3	3	3	3	3	2	3	1	3	2	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:105139526C>G	ENST00000369839.3	+	4	1298	c.1275C>G	c.(1273-1275)aaC>aaG	p.N425K	TAF5_ENST00000351396.4_Missense_Mutation_p.N425K	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	425					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CACCTCAGAACAGGTGAGGAA	0.353													11	32					0	0	0	0	G	105139526	C	G	105139526	3	3	364	1	0	0	0	0	1	0	0	0	15619	477	17	4	1289	4	TAF5	10	105139526	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	965697	105139526	30395221	1076	70005											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362544	105362544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctcctagacccctcactggGagcctcggaggccgtctgcg	5	8	12	16	3	3	1	1	0	2	1	5	3	3	3	5	3	2	0	5	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:105362544G>A	ENST00000369774.4	-	15	2707	c.2431C>T	c.(2431-2433)Ccc>Tcc	p.P811S	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.P783S|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.P646S|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.P678S|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	811					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCCTCACTGGGAGCCTCGGAG	0.647													33	115					0	0	0	0	A	105362544	G	A	105362544	3	1	364	1	0	0	0	0	1	0	0	0	14344	1174	41	2	974	2	SH3PXD2A	10	105362544	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	223018	105362544	30172203	1077	70006											
COL17A1	1308	broad.mit.edu	37	chr10	105807536	105807536	+	Missense_Mutation	SNP	G	G	A																															agaaggtcctggtgggccacGgattccaggcatcccagtaa																								rs138894227	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:105807536G>A	ENST00000353479.5	-	31	2586	c.2296C>T	c.(2296-2298)Cgt>Tgt	p.R766C	COL17A1_ENST00000369733.3_Missense_Mutation_p.R766C	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	766	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGTGGGCCACGGATTCCAGGC	0.507													26	24					0	0	0	0	A	105807536	G	A	105807536	3	1	364	1	0	0	0	0	1	0	0	0	3704	1116	39	1	2301	1	COL17A1	10	105807536	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	444992	105807536	29727211	1078	70007	902	2									
COL17A1	1308	broad.mit.edu	37	chr10	105807537	105807537	+	Silent	SNP	G	G	A																															gaaggtcctggtgggccacgGattccaggcatcccagtaag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:105807537G>A	ENST00000353479.5	-	31	2585	c.2295C>T	c.(2293-2295)atC>atT	p.I765I	COL17A1_ENST00000369733.3_Silent_p.I765I	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	765	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTGGGCCACGGATTCCAGGCA	0.507													26	25					0	0	0	0	A	105807537	G	A	105807537	2	1	364	1	0	0	0	0	0	0	0	1	3704	1164	41	2		2	COL17A1	10	105807537	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	105807537	29727210	1079	70008	902	2									
SORCS3	22986	broad.mit.edu	37	chr10	106970961	106970961	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctggtacaatccagcatcCccatcaaaggactgcagcct	11	9	7	14	0	2	0	1	0	1	0	4	1	4	1	4	2	4	3	4	2	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:106970961C>T	ENST00000369701.3	+	17	2555	c.2328C>T	c.(2326-2328)tcC>tcT	p.S776S	SORCS3_ENST00000369699.4_Silent_p.S62S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	776						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCCAGCATCCCCATCAAAGG	0.453													9	35					0	0	0	0	T	106970961	C	T	106970961	2	4	364	1	0	0	0	0	0	0	0	1	15020	610	22	4		4	SORCS3	10	106970961	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1163424	106970961	28563786	1080	70009											
KIAA1598	57698	broad.mit.edu	37	chr10	118661444	118661444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcatggatttggactctGaggtggctaatatcccagtt	8	13	12	8	0	1	1	0	1	1	0	2	3	2	3	1	5	0	3	1	5	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:118661444G>A	ENST00000355371.4	-	16	2002	c.1505C>T	c.(1504-1506)tCa>tTa	p.S502L	KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_Intron|KIAA1598_ENST00000392901.4_Missense_Mutation_p.S442L|KIAA1598_ENST00000392903.2_Missense_Mutation_p.S502L|ENO4_ENST00000369207.2_Intron	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	502					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TTTGGACTCTGAGGTGGCTAA	0.408													4	25					0	0	0	0	A	118661444	G	A	118661444	3	1	364	1	0	0	0	0	1	0	0	0	8297	1294	45	2	398	2	KIAA1598	10	118661444	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	11690483	118661444	16873303	1081	70010											
WDR11	55717	broad.mit.edu	37	chr10	122660595	122660595	+	Missense_Mutation	SNP	T	T	G																															gaatctcctccaagaacagtTgaattcattgtctaagtaag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:122660595T>G	ENST00000263461.6	+	21	2918	c.2672T>G	c.(2671-2673)tTg>tGg	p.L891W	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	891						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CAAGAACAGTTGAATTCATTG	0.284													20	55					0	0	0	0	G	122660595	T	G	122660595	3	3	364	1	0	0	0	0	1	0	0	0	17369	1821	63	5	2754	5	WDR11	10	122660595	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	3999151	122660595	12874152	1082	70011	903	2									
WDR11	55717	broad.mit.edu	37	chr10	122660596	122660596	+	Missense_Mutation	SNP	G	G	T																															aatctcctccaagaacagttGaattcattgtctaagtaagc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:122660596G>T	ENST00000263461.6	+	21	2919	c.2673G>T	c.(2671-2673)ttG>ttT	p.L891F	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	891						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AAGAACAGTTGAATTCATTGT	0.284													21	54					5.45024e-15	5.62693e-15	1	0	T	122660596	G	T	122660596	3	4	364	1	0	0	0	0	1	0	0	0	17369	1281	45	2	2755	2	WDR11	10	122660596	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	122660596	12874151	1083	70012	903	2									
WDR11	55717	broad.mit.edu	37	chr10	122662636	122662636	+	Silent	SNP	G	G	A																															tacctgcacagcttatcccaGgaaaagtcagccagcacaac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:122662636G>A	ENST00000263461.6	+	23	3069	c.2823G>A	c.(2821-2823)caG>caA	p.Q941Q	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	941						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCTTATCCCAGGAAAAGTCAG	0.502													6	37					0	0	0	0	A	122662636	G	A	122662636	2	1	364	1	0	0	0	0	0	0	0	1	17369	991	35	4		4	WDR11	10	122662636	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2040	122662636	12872111	1084	70013	904	2									
WDR11	55717	broad.mit.edu	37	chr10	122662637	122662637	+	Missense_Mutation	SNP	G	G	A																															acctgcacagcttatcccagGaaaagtcagccagcacaaca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:122662637G>A	ENST00000263461.6	+	23	3070	c.2824G>A	c.(2824-2826)Gaa>Aaa	p.E942K	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	942						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTTATCCCAGGAAAAGTCAGC	0.502													6	38					0	0	0	0	A	122662637	G	A	122662637	3	1	364	1	0	0	0	0	1	0	0	0	17369	1175	41	2	2914	2	WDR11	10	122662637	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	122662637	12872110	1085	70014	904	2									
DMBT1	1755	broad.mit.edu	37	chr10	124345745	124345745	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggctgggccatgttggcCccaggaaatgcccggtttgg	5	10	16	10	1	0	0	0	0	0	0	0	1	0	1	4	6	1	3	4	6	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:124345745C>T	ENST00000368909.3	+	16	1735	c.1629C>T	c.(1627-1629)gcC>gcT	p.A543A	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000344338.3_Silent_p.A533A|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Silent_p.A533A|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000338354.3_Silent_p.A543A	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	543	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCATGTTGGCCCCAGGAAATG	0.602													62	180					0	0	0	0	T	124345745	C	T	124345745	2	4	364	1	0	0	0	0	0	0	0	1	4614	610	22	4		4	DMBT1	10	124345745	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1683108	124345745	11189002	1086	70015											
FAM175B	23172	broad.mit.edu	37	chr10	126523370	126523370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagtggggctgaccttcctCctccccaaagagcagctgga	9	7	12	13	0	0	2	0	1	0	1	3	4	3	3	5	3	2	3	5	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:126523370C>T	ENST00000298492.5	+	9	1123	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	360						BRISC complex	polyubiquitin binding			NS(1)	1						TGACCTTCCTCCTCCCCAAAG	0.488													16	34					0	0	0	0	T	126523370	C	T	126523370	3	4	364	1	0	0	0	0	1	0	0	0	5539	855	30	2	1112	2	FAM175B	10	126523370	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2177625	126523370	9011377	1087	70016											
PTPRE	5791	broad.mit.edu	37	chr10	129874967	129874967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaagccatcagtatacGagactttctggtcactctca	11	12	7	11	1	5	2	4	0	2	2	6	3	5	2	1	1	2	1	1	1	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:129874967G>T	ENST00000254667.3	+	18	1979	c.1700G>T	c.(1699-1701)cGa>cTa	p.R567L	PTPRE_ENST00000306042.5_Missense_Mutation_p.R509L|PTPRE_ENST00000419012.2_Missense_Mutation_p.R567L	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	567	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ATCAGTATACGAGACTTTCTG	0.428													4	196					1	1	1	0	T	129874967	G	T	129874967	3	4	364	1	0	0	0	0	1	0	0	0	12882	1058	37	3	1801	3	PTPRE	10	129874967	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3351597	129874967	5659780	1088	70017											
DPYSL4	10570	broad.mit.edu	37	chr10	134016234	134016234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggccgagtggcgctggagGacgggaagatgtttgtcacc	8	7	18	8	3	1	1	1	0	0	1	1	5	1	4	2	5	0	2	2	5	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:134016234G>T	ENST00000338492.4	+	12	1530	c.1366G>T	c.(1366-1368)Gac>Tac	p.D456Y	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	456					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGCGCTGGAGGACGGGAAGAT	0.617													40	28					6.45866e-13	6.63514e-13	1	0	T	134016234	G	T	134016234	3	4	364	1	0	0	0	0	1	0	0	0	4785	1174	41	2	1412	2	DPYSL4	10	134016234	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4141267	134016234	1518513	1089	70018											
DPYSL4	10570	broad.mit.edu	37	chr10	134016249	134016249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggacgggaagatgtttGtcaccccgggggcgggccgc	6	6	19	10	4	1	1	1	0	0	1	1	4	1	4	3	6	0	1	3	6	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:134016249G>T	ENST00000338492.4	+	12	1545	c.1381G>T	c.(1381-1383)Gtc>Ttc	p.V461F	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	461					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GAAGATGTTTGTCACCCCGGG	0.622													26	47					7.38237e-10	7.54401e-10	1	0	T	134016249	G	T	134016249	3	4	364	1	0	0	0	0	1	0	0	0	4785	1377	48	4	1427	4	DPYSL4	10	134016249	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	15	134016249	1518498	1090	70019											
GPR123	84435	broad.mit.edu	37	chr10	134942170	134942170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggcgctggcggtgtcacagGgccacttcctggacatggtc	5	8	16	12	2	1	0	1	0	0	0	3	1	2	1	2	6	0	1	2	6	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:134942170G>A	ENST00000607359.1	+	16	2995	c.2995G>A	c.(2995-2997)Ggc>Agc	p.G999S	GPR123_ENST00000392607.3_Missense_Mutation_p.G280S|GPR123_ENST00000392606.2_Missense_Mutation_p.G183S			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	280						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GGTGTCACAGGGCCACTTCCT	0.652													18	8					0	0	0	0	A	134942170	G	A	134942170	3	1	364	1	0	0	0	0	1	0	0	0	6686	1232	43	4	860	4	GPR123	10	134942170	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	925921	134942170	592577	1091	70020											
SYCE1	93426	broad.mit.edu	37	chr10	135369503	135369503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accttccttgagcagctgctCcttgctgctgtccagggcac	5	11	10	15	0	0	1	0	1	0	0	3	1	3	1	4	1	5	6	4	1	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:135369503C>T	ENST00000368517.3	-	9	607	c.469G>A	c.(469-471)Gag>Aag	p.E157K	SYCE1_ENST00000432597.2_Missense_Mutation_p.E157K|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.E193K	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	193					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGCAGCTGCTCCTTGCTGCTG	0.582													24	53					0	0	0	0	T	135369503	C	T	135369503	3	4	364	1	0	0	0	0	1	0	0	0	15518	864	30	2	541	2	SYCE1	10	135369503	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	427333	135369503	165244	1092	70021											
ANO9	338440	broad.mit.edu	37	chr11	432045	432045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaacgaagttcacgattcgGattctgagactcaagagcca	14	8	9	10	3	3	2	2	1	1	2	4	6	3	3	1	1	2	1	1	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:432045G>A	ENST00000332826.6	-	5	444	c.360C>T	c.(358-360)atC>atT	p.I120I		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	120						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TCACGATTCGGATTCTGAGAC	0.637													8	45					0	0	0	0	A	432045	G	A	432045	2	1	364	1	0	0	0	0	0	0	0	1	703	1164	41	2		2	ANO9	11	432045	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08		432045	134574471	1093	70022											
PHRF1	57661	broad.mit.edu	37	chr11	607230	607230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcaaggcaggtcccgcaccCccgcccgcaccgcgggggcg	5	2	15	19	6	1	0	1	0	0	0	2	0	2	0	5	4	0	3	5	4	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:607230C>T	ENST00000264555.5	+	14	1902	c.1774C>T	c.(1774-1776)Ccc>Tcc	p.P592S	PHRF1_ENST00000533464.1_Missense_Mutation_p.P588S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P591S|PHRF1_ENST00000413872.2_Missense_Mutation_p.P590S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	592							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GTCCCGCACCCCCGCCCGCAC	0.701													19	27					0	0	0	0	T	607230	C	T	607230	3	4	364	1	0	0	0	0	1	0	0	0	11933	623	22	4	1821	4	PHRF1	11	607230	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	175185	607230	134399286	1094	70023											
MUC6	4588	broad.mit.edu	37	chr11	1018644	1018644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtttgagtggtctctGtggctgtgggcctcgtgggt	1	17	16	7	1	2	1	0	1	2	0	4	1	2	1	1	4	0	2	1	4	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1018644G>T	ENST00000421673.2	-	31	4207	c.4157C>A	c.(4156-4158)aCa>aAa	p.T1386K		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1386	Pro-rich.|Thr-rich.				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)		AGTGGTCTCTGTGGCTGTGGG	0.627													38	175					9.62906e-15	9.92985e-15	1	0	T	1018644	G	T	1018644	3	4	364	1	0	0	0	0	1	0	0	0	10050	1377	48	4	3174	4	MUC6	11	1018644	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	411414	1018644	133987872	1095	70024											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643015	1643015	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccccttggagcccccacaGgagccacagccccccttgga	7	4	9	21	0	0	0	0	0	0	0	0	3	0	3	9	3	3	0	9	3	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1643015G>A	ENST00000399682.1	-	1	353	c.309C>T	c.(307-309)tcC>tcT	p.S103S		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	103	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCCCCACAGGAGCCACAGC	0.682													7	171					0	0	0	0	A	1643015	G	A	1643015	2	1	364	1	0	0	0	0	0	0	0	1	8616	987	35	4		4	KRTAP5-4	11	1643015	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	624371	1643015	133363501	1096	70025											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643054	1643054	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacccccacaggagacacaGccccccttggaacccccaca	12	2	7	20	0	0	1	0	0	0	1	0	4	0	2	7	2	3	0	7	2	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1643054G>A	ENST00000399682.1	-	1	314	c.270C>T	c.(268-270)ggC>ggT	p.G90G		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	90	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGAGACACAGCCCCCCTTGG	0.672													17	115					0	0	0	0	A	1643054	G	A	1643054	2	1	364	1	0	0	0	0	0	0	0	1	8616	958	34	4		4	KRTAP5-4	11	1643054	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	39	1643054	133363462	1097	70026											
SYT8	90019	broad.mit.edu	37	chr11	1856328	1856328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttcttccaaaccagcaggGtagaaagatggggcacccac	12	6	11	12	0	1	2	0	0	1	2	2	2	2	2	3	3	2	4	3	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1856328G>A	ENST00000535046.1	+	2	449	c.449G>A	c.(448-450)gGt>gAt	p.G150D	SYT8_ENST00000381968.3_Missense_Mutation_p.G12D|SYT8_ENST00000436964.2_5'UTR|SYT8_ENST00000341958.3_5'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	12	C2 1.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCAGCAGGGTAGAAAGATG	0.667													7	32					0	0	0	0	A	1856328	G	A	1856328	3	1	364	1	0	0	0	0	1	0	0	0	15571	1261	44	4	41	4	SYT8	11	1856328	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	213274	1856328	133150188	1098	70027											
TRPM5	29850	broad.mit.edu	37	chr11	2428000	2428000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaggtgacgaccttctggtCcagggggtctggcaggtctc	5	9	15	12	1	3	1	0	1	3	0	5	2	4	1	3	6	0	1	3	6	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:2428000C>T	ENST00000452833.1	-	21	3156	c.3148G>A	c.(3148-3150)Gac>Aac	p.D1050N	TRPM5_ENST00000155858.6_Missense_Mutation_p.D1048N|TRPM5_ENST00000533060.1_Missense_Mutation_p.D1048N|TRPM5_ENST00000528453.1_Missense_Mutation_p.D1048N|AC124057.5_ENST00000433035.1_RNA			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	1048						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACCTTCTGGTCCAGGGGGTCT	0.627													13	57					0	0	0	0	T	2428000	C	T	2428000	3	4	364	1	0	0	0	0	1	0	0	0	16684	855	30	2	371	2	TRPM5	11	2428000	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	571672	2428000	132578516	1099	70028											
OSBPL5	114879	broad.mit.edu	37	chr11	3109443	3109443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagggctcctatttgaGgatgtggttaatgaacagct	9	12	11	9	0	1	2	1	2	0	0	2	3	2	3	2	3	2	3	2	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:3109443G>A	ENST00000263650.7	-	22	2791	c.2632C>T	c.(2632-2634)Ctc>Ttc	p.L878F	OSBPL5_ENST00000348039.5_Missense_Mutation_p.L810F|OSBPL5_ENST00000389989.3_Missense_Mutation_p.L810F|OSBPL5_ENST00000478260.1_Missense_Mutation_p.L332F|OSBPL5_ENST00000542243.1_Missense_Mutation_p.L509F|OSBPL5_ENST00000525498.1_Missense_Mutation_p.L789F	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	878					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCCTATTTGAGGATGTGGTTA	0.642													7	19					0	0	0	0	A	3109443	G	A	3109443	3	1	364	1	0	0	0	0	1	0	0	0	11351	1000	35	4	11	4	OSBPL5	11	3109443	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	681443	3109443	131897073	1100	70029											
ART1	417	broad.mit.edu	37	chr11	3681448	3681448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctatcaagggctactcCttcttccctggagaggaaga	9	9	10	13	0	2	2	1	0	1	2	4	4	4	3	4	3	1	1	4	3	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:3681448C>T	ENST00000250693.1	+	3	800	c.699C>T	c.(697-699)tcC>tcT	p.S233S		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	233					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGGGCTACTCCTTCTTCCCTG	0.597													9	38					0	0	0	0	T	3681448	C	T	3681448	2	4	364	1	0	0	0	0	0	0	0	1	1001	668	24	4		4	ART1	11	3681448	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	572005	3681448	131325068	1101	70030											
PGAP2	27315	broad.mit.edu	37	chr11	3838688	3838688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctggtgggccatcacttttCctgtgttcggcttcttcttc	2	18	9	12	1	4	0	1	0	3	0	7	0	5	0	2	3	0	2	2	3	0	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:3838688C>T	ENST00000278243.4	+	3	472	c.271C>T	c.(271-273)Cct>Tct	p.P91S	PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000396991.2_Missense_Mutation_p.P91S|PGAP2_ENST00000496834.2_Intron|AC090587.2_ENST00000507938.1_RNA	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	91					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CATCACTTTTCCTGTGTTCGG	0.602													14	57					0	0	0	0	T	3838688	C	T	3838688	3	4	364	1	0	0	0	0	1	0	0	0	11850	855	30	2	456	2	PGAP2	11	3838688	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	157240	3838688	131167828	1102	70031											
STIM1	6786	broad.mit.edu	37	chr11	4095781	4095781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggaggtggagaaggtcCatctggaaaagaagctgcgc	12	6	16	7	1	1	2	0	0	1	2	2	5	2	4	1	5	2	1	1	5	4	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:4095781C>T	ENST00000300737.4	+	7	1410	c.841C>T	c.(841-843)Cat>Tat	p.H281Y	STIM1_ENST00000533977.1_Missense_Mutation_p.H108Y|STIM1_ENST00000527651.1_Missense_Mutation_p.H281Y	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	281	Glu-rich.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GGAGAAGGTCCATCTGGAAAA	0.637													10	14					0	0	0	0	T	4095781	C	T	4095781	3	4	364	1	0	0	0	0	1	0	0	0	15373	594	21	4	867	4	STIM1	11	4095781	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	257093	4095781	130910735	1103	70032											
C11orf40	143501	broad.mit.edu	37	chr11	4594552	4594552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacagtaccctaaagcaagGtcttttgtcatcttctgcca	10	14	6	11	0	4	0	1	0	3	0	4	0	4	0	2	1	4	2	2	1	5	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:4594552G>A	ENST00000307616.1	-	2	291	c.292C>T	c.(292-294)Cct>Tct	p.P98S		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	98										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTAAAGCAAGGTCTTTTGTCA	0.488													32	113					0	0	0	0	A	4594552	G	A	4594552	3	1	364	1	0	0	0	0	1	0	0	0	1650	1261	44	4	372	4	C11orf40	11	4594552	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	498771	4594552	130411964	1104	70033											
MMP26	56547	broad.mit.edu	37	chr11	5012647	5012647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccaggtggtatcttaggCcatgcctttttaccaaattc	8	13	10	10	0	1	0	0	0	1	0	2	0	1	0	4	4	2	1	4	4	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:5012647C>T	ENST00000380390.1	+	5	732	c.516C>T	c.(514-516)ggC>ggT	p.G172G	MMP26_ENST00000300762.1_Silent_p.G172G			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	172					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTATCTTAGGCCATGCCTTTT	0.478													58	184					0	0	0	0	T	5012647	C	T	5012647	2	4	364	1	0	0	0	0	0	0	0	1	9733	726	26	4		4	MMP26	11	5012647	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	418095	5012647	129993869	1105	70034											
OR52L1	338751	broad.mit.edu	37	chr11	6007757	6007757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catagcaatccagagccatgGccacaagtacccctgactcc	12	6	7	16	0	0	2	0	1	0	1	2	2	2	2	6	1	3	2	6	1	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6007757G>A	ENST00000332249.4	-	1	458	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGCCATGGCCACAAGTAC	0.537													5	19					0	0	0	0	A	6007757	G	A	6007757	3	1	364	1	0	0	0	0	1	0	0	0	11196	1203	42	4	589	4	OR52L1	11	6007757	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	995110	6007757	128998759	1106	70035											
OR56A1	120796	broad.mit.edu	37	chr11	6048186	6048186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaagaatgaggatgaagtggGagccacatgtgctcagggcc	13	6	15	7	0	1	3	1	2	0	1	1	5	1	5	2	3	2	1	2	3	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6048186G>A	ENST00000316650.5	-	1	785	c.749C>T	c.(748-750)tCc>tTc	p.S250F		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGAAGTGGGAGCCACATGT	0.498													10	56					0	0	0	0	A	6048186	G	A	6048186	3	1	364	1	0	0	0	0	1	0	0	0	11204	1174	41	2	211	2	OR56A1	11	6048186	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	40429	6048186	128958330	1107	70036											
TRIM3	10612	broad.mit.edu	37	chr11	6472240	6472240	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaatgatatgtccattccgGtctacggccactcccttggg	8	11	9	13	2	1	1	0	1	1	0	4	1	4	1	4	3	1	0	4	3	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6472240G>A	ENST00000525074.1	-	9	2146	c.1752C>T	c.(1750-1752)gaC>gaT	p.D584D	TRIM3_ENST00000537602.1_Silent_p.D506D|TRIM3_ENST00000345851.3_Silent_p.D584D|TRIM3_ENST00000536344.1_Silent_p.D465D|TRIM3_ENST00000359518.3_Silent_p.D584D	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	584					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCATTCCGGTCTACGGCCA	0.547													15	44					0	0	0	0	A	6472240	G	A	6472240	2	1	364	1	0	0	0	0	0	0	0	1	16599	1252	44	4		4	TRIM3	11	6472240	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	424054	6472240	128534276	1108	70037											
TRIM3	10612	broad.mit.edu	37	chr11	6477752	6477752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggctgtccgtagagcagcaCcgagaggagcagctcgcctt	8	7	14	12	3	0	2	0	0	0	2	2	4	1	3	3	2	4	6	3	2	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6477752C>T	ENST00000525074.1	-	6	1598	c.1204G>A	c.(1204-1206)Gtg>Atg	p.V402M	TRIM3_ENST00000537602.1_Missense_Mutation_p.V324M|TRIM3_ENST00000345851.3_Missense_Mutation_p.V402M|TRIM3_ENST00000536344.1_Missense_Mutation_p.V283M|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000359518.3_Missense_Mutation_p.V402M	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	402					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGAGCAGCACCGAGAGGAGC	0.677													5	14					0	0	0	0	T	6477752	C	T	6477752	3	4	364	1	0	0	0	0	1	0	0	0	16599	507	18	4	1058	4	TRIM3	11	6477752	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5512	6477752	128528764	1109	70038											
DNHD1	144132	broad.mit.edu	37	chr11	6591316	6591316	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaatccccgtgctgccaTgcaagagctggctggtgaga	9	8	13	11	1	0	2	0	1	0	2	1	3	1	2	3	2	5	5	3	2	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6591316T>G	ENST00000254579.6	+	40	13505	c.12941T>G	c.(12940-12942)aTg>aGg	p.M4314R	DNHD1_ENST00000527990.2_Missense_Mutation_p.M4314R	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4314					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGTGCTGCCATGCAAGAGCTG	0.572													17	58					0	0	0	0	G	6591316	T	G	6591316	3	3	364	1	0	0	0	0	1	0	0	0	4704	1464	51	5	13100	5	DNHD1	11	6591316	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	113564	6591316	128415200	1110	70039											
OVCH2	341277	broad.mit.edu	37	chr11	7718105	7718105	+	RNA	SNP	C	C	T																															actgagcaacacatgcatttCctctggtaccagcagggtcc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:7718105C>T	ENST00000454689.1	-	0	1047				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		ACATGCATTTCCTCTGGTACC	0.473													11	43					0	0	0	0	T	7718105	C	T	7718105	1	4	364	0	1	0	0	0	0	0	0	0	11395	864	30	2		2	OVCH2	11	7718105	RNA	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1126789	7718105	127288411	1111	70040	905	2									
OVCH2	341277	broad.mit.edu	37	chr11	7718106	7718106	+	RNA	SNP	C	C	T																															ctgagcaacacatgcatttcCtctggtaccagcagggtcca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:7718106C>T	ENST00000454689.1	-	0	1046				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CATGCATTTCCTCTGGTACCA	0.473													12	44					0	0	0	0	T	7718106	C	T	7718106	1	4	364	0	1	0	0	0	0	0	0	0	11395	680	24	4		4	OVCH2	11	7718106	RNA	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	7718106	127288410	1112	70041	905	2									
TUB	7275	broad.mit.edu	37	chr11	8120376	8120376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaggcctcatcctccaCtttggaaagtggaaccttac	11	10	8	12	0	2	1	2	0	0	1	4	3	4	3	4	3	2	0	4	3	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:8120376C>T	ENST00000305253.4	+	10	1476	c.1235C>T	c.(1234-1236)aCt>aTt	p.T412I	TUB_ENST00000534099.1_Missense_Mutation_p.T363I|TUB_ENST00000299506.2_Missense_Mutation_p.T357I	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	357					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TCATCCTCCACTTTGGAAAGT	0.478											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	53					0	0	0	0	T	8120376	C	T	8120376	3	4	364	1	0	0	0	0	1	0	0	0	16838	565	20	4	1315	4	TUB	11	8120376	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	402270	8120376	126886140	1113	70042											
RIC3	79608	broad.mit.edu	37	chr11	8132603	8132603	+	Missense_Mutation	SNP	G	G	A																															cagaaagttcttttgggtcaGggtaatccaccaagattgtt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:8132603G>A	ENST00000396677.2	-	3	265	c.266C>T	c.(265-267)cCt>cTt	p.P89L	RIC3_ENST00000343202.4_Missense_Mutation_p.P250L|RIC3_ENST00000425599.2_Missense_Mutation_p.P170L|RIC3_ENST00000539720.1_Missense_Mutation_p.P202L|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Missense_Mutation_p.P69L|RIC3_ENST00000309737.6_Missense_Mutation_p.P251L			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	251	Poly-Gly.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTTTGGGTCAGGGTAATCCAC	0.423													36	61					0	0	0	0	A	8132603	G	A	8132603	3	1	364	1	0	0	0	0	1	0	0	0	13437	1000	35	4	361	4	RIC3	11	8132603	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	12227	8132603	126873913	1114	70043	906	2									
RIC3	79608	broad.mit.edu	37	chr11	8132604	8132604	+	Missense_Mutation	SNP	G	G	A																															agaaagttcttttgggtcagGgtaatccaccaagattgttt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:8132604G>A	ENST00000396677.2	-	3	264	c.265C>T	c.(265-267)Cct>Tct	p.P89S	RIC3_ENST00000343202.4_Missense_Mutation_p.P250S|RIC3_ENST00000425599.2_Missense_Mutation_p.P170S|RIC3_ENST00000539720.1_Missense_Mutation_p.P202S|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Missense_Mutation_p.P69S|RIC3_ENST00000309737.6_Missense_Mutation_p.P251S			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	251	Poly-Gly.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTTGGGTCAGGGTAATCCACC	0.418													38	62					0	0	0	0	A	8132604	G	A	8132604	3	1	364	1	0	0	0	0	1	0	0	0	13437	1232	43	4	362	4	RIC3	11	8132604	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	8132604	126873912	1115	70044	906	2									
ZNF143	7702	broad.mit.edu	37	chr11	9492911	9492911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatgacagagtttcctggagGagggatggaggcgcaacatg	12	7	16	6	1	0	2	0	1	0	1	1	6	1	6	1	5	1	2	1	5	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:9492911G>A	ENST00000396602.2	+	2	175	c.56G>A	c.(55-57)gGa>gAa	p.G19E	ZNF143_ENST00000396604.1_Missense_Mutation_p.G19E|ZNF143_ENST00000396597.3_Missense_Mutation_p.G19E|ZNF143_ENST00000530463.1_Missense_Mutation_p.G19E|ZNF143_ENST00000299606.2_Missense_Mutation_p.G19E	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	19					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TTTCCTGGAGGAGGGATGGAG	0.438													17	64					0	0	0	0	A	9492911	G	A	9492911	3	1	364	1	0	0	0	0	1	0	0	0	17827	1174	41	2	58	2	ZNF143	11	9492911	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1360307	9492911	125513605	1116	70045											
SBF2	81846	broad.mit.edu	37	chr11	9917511	9917511	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatagaaagcactggtcaaAgggagtaatgctgcggcaat	14	8	12	7	1	1	1	1	0	0	1	1	2	1	2	0	3	3	4	0	3	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:9917511A>T	ENST00000256190.8	-	17	2045	c.1908T>A	c.(1906-1908)ccT>ccA	p.P636P	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	636					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CACTGGTCAAAGGGAGTAATG	0.323													40	152					0	0	0	0	T	9917511	A	T	9917511	2	4	364	1	0	0	0	0	0	0	0	1	13945	59	3	5		5	SBF2	11	9917511	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	424600	9917511	125089005	1117	70046											
MICAL2	9645	broad.mit.edu	37	chr11	12257762	12257762	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagaatgacatgaacaaacgGagacggaagggcttcaccaa	17	4	12	8	2	1	4	1	2	0	2	1	7	1	5	1	3	2	1	1	3	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:12257762G>A	ENST00000256194.4	+	16	2322	c.2034G>A	c.(2032-2034)cgG>cgA	p.R678R	MICAL2_ENST00000527546.1_Silent_p.R678R|MICAL2_ENST00000342902.5_Silent_p.R678R|MICAL2_ENST00000537344.1_Silent_p.R678R|MICAL2_ENST00000379612.3_Silent_p.R678R	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	678						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGAACAAACGGAGACGGAAGG	0.552											OREG0020771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	62					0	0	0	0	A	12257762	G	A	12257762	2	1	364	1	0	0	0	0	0	0	0	1	9639	1161	41	2		2	MICAL2	11	12257762	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2340251	12257762	122748754	1118	70047											
ANO5	203859	broad.mit.edu	37	chr11	22296187	22296187	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttactcaacaaatgccAcacagcctatgacaggatat	15	9	6	11	0	1	1	1	1	0	0	1	2	1	2	2	1	5	1	2	1	5	3	rs137854528		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:22296187A>C	ENST00000324559.8	+	20	2625	c.2308A>C	c.(2308-2310)Aca>Cca	p.T770P	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	770						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AACAAATGCCACACAGCCTAT	0.393													17	74					0	0	0	0	C	22296187	A	C	22296187	3	2	364	1	0	0	0	0	1	0	0	0	699	159	6	5	2386	5	ANO5	11	22296187	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	10038425	22296187	112710329	1119	70048											
SLC17A6	57084	broad.mit.edu	37	chr11	22364834	22364834	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccggaaaccgtggggatgatCcacggttccttcttttgggg	6	11	14	10	3	1	1	0	1	1	0	3	3	3	3	4	6	1	1	4	6	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:22364834C>T	ENST00000263160.3	+	3	818	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	127					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGGGGATGATCCACGGTTCCT	0.542													16	109					0	0	0	0	T	22364834	C	T	22364834	2	4	364	1	0	0	0	0	0	0	0	1	14509	845	30	2		2	SLC17A6	11	22364834	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	68647	22364834	112641682	1120	70049											
MUC15	143662	broad.mit.edu	37	chr11	26582706	26582706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctgaatcattcaaagttGgattgtagtagctagaattc	12	14	10	5	0	2	2	2	1	0	1	3	3	2	3	0	2	1	5	0	2	6	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:26582706G>A	ENST00000436318.2	-	4	1125	c.992C>T	c.(991-993)cCa>cTa	p.P331L	MUC15_ENST00000529533.1_Missense_Mutation_p.P331L|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.P304L|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.P281L|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.P281L|ANO3_ENST00000537978.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	304						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ATTCAAAGTTGGATTGTAGTA	0.378													12	35					0	0	0	0	A	26582706	G	A	26582706	3	1	364	1	0	0	0	0	1	0	0	0	10042	1348	47	4	97	4	MUC15	11	26582706	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4217872	26582706	108423810	1121	70050											
DCDC1	341019	broad.mit.edu	37	chr11	30928123	30928123	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttgaagggcccttgtaaGaagggcttctgagtcttggt	8	12	13	8	0	2	3	0	2	2	1	2	3	2	3	2	3	0	2	2	3	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:30928123G>A	ENST00000597505.1	-	28	4067	c.4068C>T	c.(4066-4068)ttC>ttT	p.F1356F	DCDC1_ENST00000406071.2_Silent_p.F91F|DCDC1_ENST00000339794.5_Silent_p.F435F			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCCCTTGTAAGAAGGGCTTCT	0.453													11	24					0	0	0	0	A	30928123	G	A	30928123	2	1	364	1	0	0	0	0	0	0	0	1	4316	957	33	2		2	DCDC1	11	30928123	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4345417	30928123	104078393	1122	70051											
DCDC1	341019	broad.mit.edu	37	chr11	31115636	31115636	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggctacaggccacaggatCgatggcgctatttgactcct	8	10	11	12	2	0	1	0	1	0	0	2	3	1	2	2	4	1	2	2	4	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:31115636C>T	ENST00000597505.1	-	14	2078	c.2079G>A	c.(2077-2079)tcG>tcA	p.S693S	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCCACAGGATCGATGGCGCTA	0.512													22	79					0	0	0	0	T	31115636	C	T	31115636	2	4	364	1	0	0	0	0	0	0	0	1	4316	899	31	1		1	DCDC1	11	31115636	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	187513	31115636	103890880	1123	70052											
CCDC73	493860	broad.mit.edu	37	chr11	32705047	32705047	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccccctaagtactaatcCagatgggggaaaatatgttt	14	11	8	8	0	0	1	0	0	0	1	2	2	2	2	3	2	1	2	3	2	7	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:32705047C>T	ENST00000531481.1	-	7	740	c.464G>A	c.(463-465)tGg>tAg	p.W155*	CCDC73_ENST00000534415.1_Intron|CCDC73_ENST00000335185.5_Intron			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	0										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGTACTAATCCAGATGGGGGA	0.308													4	39					0	0	0	0	T	32705047	C	T	32705047	4	4	364	1	0	0	0	0	0	1	0	0	2873	609	21	4		4	CCDC73	11	32705047	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1589411	32705047	102301469	1124	70053											
CAT	847	broad.mit.edu	37	chr11	34477639	34477639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgactatggcatccgggatCtttttaacgccattgccaca	9	12	8	12	2	1	1	0	1	1	0	2	2	2	2	3	2	2	1	3	2	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:34477639C>T	ENST00000241052.4	+	7	882	c.793C>T	c.(793-795)Ctt>Ttt	p.L265F		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	265					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CATCCGGGATCTTTTTAACGC	0.433													22	97					0	0	0	0	T	34477639	C	T	34477639	3	4	364	1	0	0	0	0	1	0	0	0	2711	913	32	2	819	2	CAT	11	34477639	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1772592	34477639	100528877	1125	70054											
SYT13	57586	broad.mit.edu	37	chr11	45274137	45274137	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctcctcctccgccaggggGagcaccaggccctcctccca	6	5	10	20	1	0	0	0	0	0	0	5	1	5	1	8	3	2	2	8	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:45274137G>A	ENST00000020926.3	-	4	792	c.681C>T	c.(679-681)ctC>ctT	p.L227L		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	227	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CCGCCAGGGGGAGCACCAGGC	0.677											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	38					0	0	0	0	A	45274137	G	A	45274137	2	1	364	1	0	0	0	0	0	0	0	1	15560	1161	41	2		2	SYT13	11	45274137	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	10796498	45274137	89732379	1126	70055											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45919661	45919661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccatgacatcagcctggagGagtttgaggatgaagacctc	11	8	12	10	0	1	4	1	3	0	1	2	7	1	7	3	3	1	1	3	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:45919661G>A	ENST00000395629.2	+	2	427	c.97G>A	c.(97-99)Gag>Aag	p.E33K	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.E43K			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	43					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CAGCCTGGAGGAGTTTGAGGA	0.542													4	33					0	0	0	0	A	45919661	G	A	45919661	3	1	364	1	0	0	0	0	1	0	0	0	9353	1175	41	2	133	2	MAPK8IP1	11	45919661	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	645524	45919661	89086855	1127	70056											
PEX16	9409	broad.mit.edu	37	chr11	45931708	45931708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggcctggccggtaggcacgGagaggccgcacgctgggacg	6	3	20	12	5	0	1	0	0	0	1	0	3	0	2	3	7	0	4	3	7	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:45931708G>A	ENST00000241041.3	-	11	990	c.973C>T	c.(973-975)Ccg>Tcg	p.P325S		NM_004813.2|NM_057174.2	NP_004804.1|NP_476515.1	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	0	Interaction with PEX19.				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GGTAGGCACGGAGAGGCCGCA	0.672													20	34					0	0	0	0	A	45931708	G	A	45931708	3	1	364	1	0	0	0	0	1	0	0	0	11815	1174	41	2	71	2	PEX16	11	45931708	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	12047	45931708	89074808	1128	70057											
DDB2	1643	broad.mit.edu	37	chr11	47256377	47256377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccatgctgtgattggttcCtggccacagcctccgtagat	7	11	10	13	1	0	2	0	1	0	1	2	2	2	2	5	2	2	3	5	2	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47256377C>T	ENST00000256996.4	+	6	967	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Silent_p.L194L|DDB2_ENST00000378601.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	258					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TGATTGGTTCCTGGCCACAGC	0.537			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	35					0	0	0	0	T	47256377	C	T	47256377	2	4	364	1	0	0	0	0	0	0	0	1	4356	680	24	4		4	DDB2	11	47256377	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1324669	47256377	87750139	1129	70058											
MYBPC3	4607	broad.mit.edu	37	chr11	47359002	47359002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccgatggcgttgaccgCgtagacgcgcatctcgtaca	8	8	12	13	7	1	2	0	1	1	1	2	3	1	2	2	1	2	4	2	1	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47359002C>T	ENST00000399249.2	-	24	2596	c.2542G>A	c.(2542-2544)Gcg>Acg	p.A848T	MYBPC3_ENST00000256993.4_Missense_Mutation_p.A847T|MYBPC3_ENST00000545968.1_Missense_Mutation_p.A848T			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	847	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCGTTGACCGCGTAGACGCGC	0.662													6	36					0	0	0	0	T	47359002	C	T	47359002	3	4	364	1	0	0	0	0	1	0	0	0	10083	768	27	1	1322	1	MYBPC3	11	47359002	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	102625	47359002	87647514	1130	70059											
CELF1	10658	broad.mit.edu	37	chr11	47510497	47510497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttttcagaccaggtccttgGaacctggcccacaaacatct	10	10	7	14	0	2	1	1	0	1	1	3	2	3	2	4	3	2	0	4	3	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47510497G>A	ENST00000395290.2	-	1	79	c.70C>T	c.(70-72)Cca>Tca	p.P24S	CELF1_ENST00000361904.3_Missense_Mutation_p.P24S|CELF1_ENST00000531165.1_Missense_Mutation_p.P51S|CELF1_ENST00000358597.3_Missense_Mutation_p.P24S|CELF1_ENST00000395292.2_Missense_Mutation_p.P24S|CELF1_ENST00000310513.5_Missense_Mutation_p.P24S|CELF1_ENST00000532048.1_Missense_Mutation_p.P51S	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	24	RRM 1.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CAGGTCCTTGGAACCTGGCCC	0.483													30	95					0	0	0	0	A	47510497	G	A	47510497	3	1	364	1	0	0	0	0	1	0	0	0	3244	1174	41	2	1441	2	CELF1	11	47510497	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	151495	47510497	87496019	1131	70060											
MTCH2	23788	broad.mit.edu	37	chr11	47650568	47650568	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttacacagccacaaagaaagGatgtcacctagaaggcgagg	16	5	11	9	1	1	2	1	0	0	2	1	4	1	3	2	3	2	0	2	3	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47650568G>A	ENST00000302503.3	-	9	727	c.570C>T	c.(568-570)atC>atT	p.I190I	MTCH2_ENST00000542981.1_Silent_p.I42I|MTCH2_ENST00000534074.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	190					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ACAAAGAAAGGATGTCACCTA	0.453													9	21					0	0	0	0	A	47650568	G	A	47650568	2	1	364	1	0	0	0	0	0	0	0	1	9984	1164	41	2		2	MTCH2	11	47650568	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	140071	47650568	87355948	1132	70061											
NUP160	23279	broad.mit.edu	37	chr11	47861509	47861509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtagaggcggtggaattagGagatattccaggtactgctg	10	11	15	5	1	0	2	0	0	0	2	1	4	1	3	1	5	2	3	1	5	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47861509G>A	ENST00000378460.2	-	4	680	c.634C>T	c.(634-636)Cct>Tct	p.P212S	NUP160_ENST00000532747.1_Intron|NUP160_ENST00000530326.1_Missense_Mutation_p.P98S|NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000528071.1_Missense_Mutation_p.P98S	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	212					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GTGGAATTAGGAGATATTCCA	0.463													21	88					0	0	0	0	A	47861509	G	A	47861509	3	1	364	1	0	0	0	0	1	0	0	0	10828	1174	41	2	3808	2	NUP160	11	47861509	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	210941	47861509	87145007	1133	70062											
OR4A5	81318	broad.mit.edu	37	chr11	51412038	51412038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttacagatggccacatagcGatcacaggccatcaccacca	13	6	7	15	1	2	1	2	0	0	1	2	2	2	1	4	2	2	0	4	2	2	2	rs141762692		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:51412038G>A	ENST00000319760.6	-	1	410	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				GCCACATAGCGATCACAGGCC	0.468													13	44					0	0	0	0	A	51412038	G	A	51412038	3	1	364	1	0	0	0	0	1	0	0	0	11114	1058	37	1	593	1	OR4A5	11	51412038	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3550529	51412038	83594478	1134	70063											
OR4A15	81328	broad.mit.edu	37	chr11	55135800	55135800	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttctggtggtaatggcCtatgatcgatacatggccat	9	14	10	8	1	2	1	0	1	2	0	3	2	2	1	2	4	1	1	2	4	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55135800C>T	ENST00000314706.3	+	1	441	c.441C>T	c.(439-441)gcC>gcT	p.A147A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGGTAATGGCCTATGATCGAT	0.438													33	176					0	0	0	0	T	55135800	C	T	55135800	2	4	364	1	0	0	0	0	0	0	0	1	11111	668	24	4		4	OR4A15	11	55135800	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3723762	55135800	79870716	1135	70064											
OR4C11	219429	broad.mit.edu	37	chr11	55371161	55371161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggagagagcctttttcttcCctttggcactgtggtttctc	4	16	10	11	1	2	1	0	0	2	1	4	3	3	2	2	3	1	2	2	3	0	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55371161C>T	ENST00000302231.4	-	1	713	c.689G>A	c.(688-690)gGg>gAg	p.G230E		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CTTTTTCTTCCCTTTGGCACT	0.408													10	20					0	0	0	0	T	55371161	C	T	55371161	3	4	364	1	0	0	0	0	1	0	0	0	11116	623	22	4	245	4	OR4C11	11	55371161	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	235361	55371161	79635355	1136	70065											
OR4C6	219432	broad.mit.edu	37	chr11	55433433	55433433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggcctgtggtcactcaccCcatagacaaggcaatggctg	10	7	12	12	0	2	1	2	0	0	1	2	2	2	1	3	4	0	2	3	4	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55433433C>T	ENST00000314259.3	+	1	820	c.791C>T	c.(790-792)cCc>cTc	p.P264L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTCACTCACCCCATAGACAAG	0.488													34	77					0	0	0	0	T	55433433	C	T	55433433	3	4	364	1	0	0	0	0	1	0	0	0	11123	623	22	4	793	4	OR4C6	11	55433433	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	62272	55433433	79573083	1137	70066											
OR5AS1	219447	broad.mit.edu	37	chr11	55798251	55798251	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttatcctggcagcaatggcTtatgaccgctatgcagccat	9	11	9	12	1	0	1	0	1	0	0	1	1	1	1	3	2	3	5	3	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55798251T>C	ENST00000313555.1	+	1	357	c.357T>C	c.(355-357)gcT>gcC	p.A119A		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CAGCAATGGCTTATGACCGCT	0.463													26	36					0	0	0	0	C	55798251	T	C	55798251	2	2	364	1	0	0	0	0	0	0	0	1	11217	1596	56	5		5	OR5AS1	11	55798251	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	364818	55798251	79208265	1138	70067											
OR5J2	282775	broad.mit.edu	37	chr11	55944497	55944497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcccttgctttacactgtagCcatgtctgatagaaagtgtg	9	14	9	9	0	1	2	0	1	1	1	2	2	2	2	2	0	3	2	2	0	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55944497C>T	ENST00000312298.1	+	1	404	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TACACTGTAGCCATGTCTGAT	0.453													38	76					0	0	0	0	T	55944497	C	T	55944497	3	4	364	1	0	0	0	0	1	0	0	0	11236	739	26	4	406	4	OR5J2	11	55944497	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	146246	55944497	79062019	1139	70068											
OR5T3	390154	broad.mit.edu	37	chr11	56019871	56019871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactattttttgcaatctatCtctttaccttgataggcaat	10	19	4	8	0	2	1	0	1	2	0	3	1	2	1	1	1	3	2	1	1	7	10			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:56019871C>T	ENST00000303059.3	+	1	196	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGCAATCTATCTCTTTACCTT	0.368													21	78					0	0	0	0	T	56019871	C	T	56019871	3	4	364	1	0	0	0	0	1	0	0	0	11254	913	32	2	198	2	OR5T3	11	56019871	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	75374	56019871	78986645	1140	70069											
OR5R1	219479	broad.mit.edu	37	chr11	56184848	56184848	+	Silent	SNP	G	G	A																															ttccttagactatagattagGgggtttaacatggggatcac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:56184848G>A	ENST00000312253.1	-	1	860	c.861C>T	c.(859-861)ccC>ccT	p.P287P		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TATAGATTAGGGGGTTTAACA	0.363													18	99					0	0	0	0	A	56184848	G	A	56184848	2	1	364	1	0	0	0	0	0	0	0	1	11251	1219	43	4		4	OR5R1	11	56184848	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	164977	56184848	78821668	1141	70070	907	2									
OR5R1	219479	broad.mit.edu	37	chr11	56184849	56184849	+	Missense_Mutation	SNP	G	G	A																															tccttagactatagattaggGggtttaacatggggatcacc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:56184849G>A	ENST00000312253.1	-	1	859	c.860C>T	c.(859-861)cCc>cTc	p.P287L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATAGATTAGGGGGTTTAACAT	0.363													18	99					0	0	0	0	A	56184849	G	A	56184849	3	1	364	1	0	0	0	0	1	0	0	0	11251	1232	43	4	116	4	OR5R1	11	56184849	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	56184849	78821667	1142	70071	907	2									
SLC43A1	8501	broad.mit.edu	37	chr11	57254631	57254631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtggctgctgaagcaaggcGaacacagcactgatgaggga	13	5	15	8	1	0	3	0	3	0	0	0	5	0	4	0	3	4	4	0	3	3	0	rs142620907	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:57254631G>A	ENST00000278426.3	-	14	1825	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	SLC43A1_ENST00000528450.1_Silent_p.F490F	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	490					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GAAGCAAGGCGAACACAGCAC	0.612													8	31					0	0	0	0	A	57254631	G	A	57254631	2	1	364	1	0	0	0	0	0	0	0	1	14720	1049	37	1		1	SLC43A1	11	57254631	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1069782	57254631	77751885	1143	70072											
OR1S2	219958	broad.mit.edu	37	chr11	57970986	57970986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaagaagatgagtacaaagGggaagatgataactgataaa	21	6	12	2	0	0	7	0	3	0	4	0	8	0	8	0	2	2	1	0	2	8	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:57970986G>A	ENST00000302592.6	-	1	667	c.668C>T	c.(667-669)cCc>cTc	p.P223L		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GAGTACAAAGGGGAAGATGAT	0.448													18	87					0	0	0	0	A	57970986	G	A	57970986	3	1	364	1	0	0	0	0	1	0	0	0	11044	1232	43	4	312	4	OR1S2	11	57970986	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	716355	57970986	77035530	1144	70073											
OR5B3	441608	broad.mit.edu	37	chr11	58170000	58170000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgaatgcactcttcaCttccttgttcctcagactat	7	18	4	12	0	4	2	2	1	2	1	6	2	6	2	2	0	1	2	2	0	2	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:58170000C>T	ENST00000309403.2	-	1	882	c.883G>A	c.(883-885)Gtg>Atg	p.V295M		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCACTCTTCACTTCCTTGTTC	0.433													23	138					0	0	0	0	T	58170000	C	T	58170000	3	4	364	1	0	0	0	0	1	0	0	0	11223	565	20	4	63	4	OR5B3	11	58170000	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	199014	58170000	76836516	1145	70074											
OR5AN1	390195	broad.mit.edu	37	chr11	59132056	59132056	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacattacatctctggcctGgaacctctccctcattgttt	7	15	5	14	0	3	0	1	0	2	0	5	1	3	1	3	2	3	1	3	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59132056G>A	ENST00000313940.2	+	1	172	c.125G>A	c.(124-126)tGg>tAg	p.W42*		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TCTCTGGCCTGGAACCTCTCC	0.418													54	114					0	0	0	0	A	59132056	G	A	59132056	4	1	364	1	0	0	0	0	0	1	0	0	11214	1357	47	4	127	4	OR5AN1	11	59132056	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	962056	59132056	75874460	1146	70075											
OR5A1	219982	broad.mit.edu	37	chr11	59211004	59211004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcctcctgactgctatGgcatacgaccgatatgcagc	8	10	9	14	2	0	1	0	1	0	0	2	3	2	1	4	1	5	3	4	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59211004G>A	ENST00000302030.2	+	1	388	c.363G>A	c.(361-363)atG>atA	p.M121I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TGACTGCTATGGCATACGACC	0.532													74	192					0	0	0	0	A	59211004	G	A	59211004	3	1	364	1	0	0	0	0	1	0	0	0	11210	1348	47	4	365	4	OR5A1	11	59211004	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	78948	59211004	75795512	1147	70076											
GIF	2694	broad.mit.edu	37	chr11	59610013	59610013	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctggcacagtgccaagatCgctagactgggcccatagaa	11	8	11	11	1	1	3	0	0	1	3	2	3	1	3	2	2	1	2	2	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59610013C>T	ENST00000541311.1	-	4	573	c.339G>A	c.(337-339)gcG>gcA	p.A113A	GIF_ENST00000257248.2_Silent_p.A138A			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	138					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	p.A138A(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTGCCAAGATCGCTAGACTGG	0.557													13	62					0	0	0	0	T	59610013	C	T	59610013	2	4	364	1	0	0	0	0	0	0	0	1	6427	871	31	1		1	GIF	11	59610013	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	399009	59610013	75396503	1148	70077											
GIF	2694	broad.mit.edu	37	chr11	59612891	59612891	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctagtcccagctgtagcccaGagaaggctcaggaggtagag	11	6	14	10	0	1	2	1	0	0	2	2	4	2	3	2	3	2	4	2	3	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59612891G>A	ENST00000257248.2	-	1	83	c.36C>T	c.(34-36)ctC>ctT	p.L12L	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	12					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTGTAGCCCAGAGAAGGCTCA	0.522													53	178					0	0	0	0	A	59612891	G	A	59612891	2	1	364	1	0	0	0	0	0	0	0	1	6427	929	33	2		2	GIF	11	59612891	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2878	59612891	75393625	1149	70078											
MS4A6A	64231	broad.mit.edu	37	chr11	59945756	59945756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcttggttaaccttttctCtgtggcgattgatagagagc	9	14	11	7	1	1	2	0	1	1	1	2	4	1	2	1	2	3	2	1	2	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59945756C>T	ENST00000528851.1	-	4	456	c.316G>A	c.(316-318)Gag>Aag	p.E106K	MS4A6A_ENST00000530839.1_Missense_Mutation_p.E106K|MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000412309.2_Missense_Mutation_p.E134K|MS4A6A_ENST00000426738.2_Missense_Mutation_p.E61K|MS4A6A_ENST00000420732.2_Missense_Mutation_p.E106K|MS4A6A_ENST00000323961.3_Missense_Mutation_p.E106K|MS4A6A_ENST00000529054.1_Missense_Mutation_p.E134K			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	106						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AACCTTTTCTCTGTGGCGATT	0.393													5	91					0	0	0	0	T	59945756	C	T	59945756	3	4	364	1	0	0	0	0	1	0	0	0	9934	922	32	2	473	2	MS4A6A	11	59945756	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	332865	59945756	75060760	1150	70079											
MS4A7	58475	broad.mit.edu	37	chr11	60152592	60152592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtgttgcctgttgatttCaagtctgggggccatcttgg	4	15	13	9	0	3	1	1	1	2	0	3	1	3	1	3	3	1	2	3	3	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60152592C>T	ENST00000300184.3	+	3	375	c.179C>T	c.(178-180)tCa>tTa	p.S60L	MS4A7_ENST00000530234.2_Missense_Mutation_p.S60L|MS4A7_ENST00000534016.1_Intron|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	60						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CTGTTGATTTCAAGTCTGGGG	0.448													67	141					0	0	0	0	T	60152592	C	T	60152592	3	4	364	1	0	0	0	0	1	0	0	0	9936	838	29	2	185	2	MS4A7	11	60152592	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	206836	60152592	74853924	1151	70080											
MS4A1	931	broad.mit.edu	37	chr11	60230539	60230539	+	Missense_Mutation	SNP	G	G	A																															tcttctgatgatcccagcagGgatctatgcacccatctgtg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60230539G>A	ENST00000534668.1	+	3	513	c.224G>A	c.(223-225)gGg>gAg	p.G75E	MS4A1_ENST00000389939.2_Missense_Mutation_p.G75E|MS4A1_ENST00000532073.1_Missense_Mutation_p.G75E|MS4A1_ENST00000345732.4_Missense_Mutation_p.G75E|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000534503.1_3'UTR	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	75	Epitope 1.				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	ATCCCAGCAGGGATCTATGCA	0.517													28	160					0	0	0	0	A	60230539	G	A	60230539	3	1	364	1	0	0	0	0	1	0	0	0	9924	1232	43	4	230	4	MS4A1	11	60230539	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	77947	60230539	74775977	1152	70081	908	2									
MS4A1	931	broad.mit.edu	37	chr11	60230540	60230540	+	Silent	SNP	G	G	A																															cttctgatgatcccagcaggGatctatgcacccatctgtgt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60230540G>A	ENST00000534668.1	+	3	514	c.225G>A	c.(223-225)ggG>ggA	p.G75G	MS4A1_ENST00000389939.2_Silent_p.G75G|MS4A1_ENST00000532073.1_Silent_p.G75G|MS4A1_ENST00000345732.4_Silent_p.G75G|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000534503.1_3'UTR	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	75	Epitope 1.				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TCCCAGCAGGGATCTATGCAC	0.517													28	163					0	0	0	0	A	60230540	G	A	60230540	2	1	364	1	0	0	0	0	0	0	0	1	9924	1161	41	2		2	MS4A1	11	60230540	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	60230540	74775976	1153	70082	908	2									
TMEM132A	54972	broad.mit.edu	37	chr11	60696260	60696260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaccctggggagcaggccCtcccagtggggggtgtggag	6	5	19	11	1	0	0	0	0	0	0	1	3	1	2	3	7	1	1	3	7	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60696260C>T	ENST00000005286.4	+	4	847	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F	TMEM132A_ENST00000453848.2_Missense_Mutation_p.L232F	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	232						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGAGCAGGCCCTCCCAGTGGG	0.697													6	17					0	0	0	0	T	60696260	C	T	60696260	3	4	364	1	0	0	0	0	1	0	0	0	16139	681	24	4	708	4	TMEM132A	11	60696260	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	465720	60696260	74310256	1154	70083											
CD6	923	broad.mit.edu	37	chr11	60781393	60781393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctcccctccctcagccCtccccgtaatggtgaaccac	6	8	6	21	1	1	1	1	1	0	0	4	1	4	1	8	1	3	1	8	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60781393C>T	ENST00000313421.7	+	8	1480	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Intron|CD6_ENST00000352009.5_Intron|CD6_ENST00000452451.2_Missense_Mutation_p.L432F|CD6_ENST00000344028.5_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	432					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCCCTCAGCCCTCCCCGTAAT	0.547													10	27					0	0	0	0	T	60781393	C	T	60781393	3	4	364	1	0	0	0	0	1	0	0	0	3057	681	24	4	1324	4	CD6	11	60781393	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	85133	60781393	74225123	1155	70084											
FADS2	9415	broad.mit.edu	37	chr11	61583899	61583899	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acccaatcaccgggcaacagGtatgatcaggcgcctccggg	10	5	12	14	3	2	1	2	1	0	0	3	1	3	1	4	4	1	2	4	4	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:61583899G>T	ENST00000257261.6	+	1	171		c.e1+1		FADS2_ENST00000574708.1_Intron|FADS1_ENST00000541683.1_Intron|FADS2_ENST00000522056.1_5'UTR|FADS1_ENST00000350997.7_Intron|FADS2_ENST00000522639.1_Splice_Site			O95864	FADS2_HUMAN	fatty acid desaturase 2						electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CGGGCAACAGGTATGATCAGG	0.617													19	32					1.64113e-05	1.66263e-05	1	0	T	61583899	G	T	61583899	5	4	364	1	0	0	0	0	0	0	1	0	5407	1276	44	4		4	FADS2	11	61583899	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	802506	61583899	73422617	1156	70085											
AHNAK	79026	broad.mit.edu	37	chr11	62288196	62288196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accatgaatgtcaatatcagGagtgtcaatgcccactttag	13	11	8	9	0	3	1	3	1	0	0	3	2	3	2	2	1	1	0	2	1	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62288196G>A	ENST00000378024.4	-	5	13967	c.13693C>T	c.(13693-13695)Cct>Tct	p.P4565S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4565					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAATATCAGGAGTGTCAATG	0.448													15	96					0	0	0	0	A	62288196	G	A	62288196	3	1	364	1	0	0	0	0	1	0	0	0	414	1174	41	2	4099	2	AHNAK	11	62288196	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	704297	62288196	72718320	1157	70086											
AHNAK	79026	broad.mit.edu	37	chr11	62291267	62291267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcaggcatggagatcttgGgagctttgatattcatgtca	9	14	12	6	0	4	2	3	1	1	1	4	4	4	3	0	3	1	2	0	3	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62291267G>A	ENST00000378024.4	-	5	10896	c.10622C>T	c.(10621-10623)cCc>cTc	p.P3541L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3541					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGAGATCTTGGGAGCTTTGAT	0.468													46	237					0	0	0	0	A	62291267	G	A	62291267	3	1	364	1	0	0	0	0	1	0	0	0	414	1232	43	4	7170	4	AHNAK	11	62291267	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3071	62291267	72715249	1158	70087											
AHNAK	79026	broad.mit.edu	37	chr11	62298332	62298332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttgaaatgcatctcaGgcatcttaaacttgggaccc	10	11	10	10	0	3	1	1	1	3	0	4	2	3	2	1	3	2	2	1	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62298332G>A	ENST00000378024.4	-	5	3831	c.3557C>T	c.(3556-3558)cCt>cTt	p.P1186L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1186					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGCATCTCAGGCATCTTAAA	0.527													71	365					0	0	0	0	A	62298332	G	A	62298332	3	1	364	1	0	0	0	0	1	0	0	0	414	1000	35	4	14235	4	AHNAK	11	62298332	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	7065	62298332	72708184	1159	70088											
ZBTB3	79842	broad.mit.edu	37	chr11	62520304	62520304	+	Missense_Mutation	SNP	G	G	A																															caggggctggggctgacgttGgggctgaggctgggggatag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62520304G>A	ENST00000394807.3	-	2	1108	c.983C>T	c.(982-984)cCa>cTa	p.P328L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	328	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						ggctgacgttggggctgaggc	0.587													12	69					0	0	0	0	A	62520304	G	A	62520304	3	1	364	1	0	0	0	0	1	0	0	0	17629	1348	47	4	745	4	ZBTB3	11	62520304	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	221972	62520304	72486212	1160	70089	909	2									
ZBTB3	79842	broad.mit.edu	37	chr11	62520305	62520305	+	Missense_Mutation	SNP	G	G	A																															aggggctggggctgacgttgGggctgaggctgggggataga																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62520305G>A	ENST00000394807.3	-	2	1107	c.982C>T	c.(982-984)Cca>Tca	p.P328S		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	328	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						gctgacgttggggctgaggct	0.587													12	69					0	0	0	0	A	62520305	G	A	62520305	3	1	364	1	0	0	0	0	1	0	0	0	17629	1232	43	4	746	4	ZBTB3	11	62520305	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	62520305	72486211	1161	70090	909	2									
SLC3A2	6520	broad.mit.edu	37	chr11	62651938	62651938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccccctataggatgctctgGagttttggctgcaagctggc	6	11	13	11	0	1	0	0	0	1	0	1	2	1	2	2	4	3	5	2	4	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62651938G>A	ENST00000377892.1	+	8	1320	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	SLC3A2_ENST00000377891.2_Missense_Mutation_p.E336K|SLC3A2_ENST00000535296.1_Missense_Mutation_p.E304K|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377890.2_Missense_Mutation_p.E335K|SLC3A2_ENST00000377889.2_Missense_Mutation_p.E273K|SLC3A2_ENST00000338663.7_Missense_Mutation_p.E234K			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	335					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GGATGCTCTGGAGTTTTGGCT	0.502											OREG0021032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	120					0	0	0	0	A	62651938	G	A	62651938	3	1	364	1	0	0	0	0	1	0	0	0	14715	1175	41	2	1129	2	SLC3A2	11	62651938	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	131633	62651938	72354578	1162	70091											
SLC3A2	6520	broad.mit.edu	37	chr11	62655841	62655841	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggctccctcctttccttgttCcggcggctgagtgaccagcg	3	11	12	15	3	0	2	0	2	0	0	4	2	4	2	5	3	1	3	5	3	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62655841C>T	ENST00000377892.1	+	13	1886	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	SLC3A2_ENST00000536981.1_Silent_p.F68F|SLC3A2_ENST00000535296.1_Silent_p.F492F|SLC3A2_ENST00000377890.2_Silent_p.F523F|SLC3A2_ENST00000377891.2_Silent_p.F524F|SLC3A2_ENST00000338663.7_Silent_p.F422F|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377889.2_Silent_p.F461F			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	523					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TTTCCTTGTTCCGGCGGCTGA	0.572													16	75					0	0	0	0	T	62655841	C	T	62655841	2	4	364	1	0	0	0	0	0	0	0	1	14715	854	30	2		2	SLC3A2	11	62655841	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3903	62655841	72350675	1163	70092											
PLCB3	5331	broad.mit.edu	37	chr11	64026070	64026070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaacccttcattacccacGgcttcaccatgaccacagag	12	7	7	15	1	2	2	2	1	0	1	2	3	2	3	4	2	2	1	4	2	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64026070G>A	ENST00000540288.1	+	11	1241	c.1138G>A	c.(1138-1140)Ggc>Agc	p.G380S	PLCB3_ENST00000279230.6_Missense_Mutation_p.G380S|PLCB3_ENST00000325234.5_Missense_Mutation_p.G313S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	380	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CATTACCCACGGCTTCACCAT	0.632													17	93					0	0	0	0	A	64026070	G	A	64026070	3	1	364	1	0	0	0	0	1	0	0	0	12101	1116	39	1	1180	1	PLCB3	11	64026070	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1370229	64026070	70980446	1164	70093											
NRXN2	9379	broad.mit.edu	37	chr11	64436058	64436058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtggtggtcaggatccCgtccaccgagatggtcacct	6	9	13	13	2	2	1	2	0	0	1	4	3	4	2	5	4	0	0	5	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64436058C>T	ENST00000265459.6	-	8	1677	c.1216G>A	c.(1216-1218)Ggg>Agg	p.G406R	NRXN2_ENST00000377551.1_Missense_Mutation_p.G406R|NRXN2_ENST00000377559.3_Missense_Mutation_p.G375R|NRXN2_ENST00000409571.1_Missense_Mutation_p.G399R	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	406	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GTCAGGATCCCGTCCACCGAG	0.572													23	100					0	0	0	0	T	64436058	C	T	64436058	3	4	364	1	0	0	0	0	1	0	0	0	10737	652	23	1	4255	1	NRXN2	11	64436058	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	409988	64436058	70570458	1165	70094											
PPP2R5B	5526	broad.mit.edu	37	chr11	64693256	64693256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccactagcccctcctcccCcgggctgtcgcctgtgcccc	2	7	8	24	2	0	0	0	0	0	0	3	0	2	0	10	1	2	1	10	1	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64693256C>T	ENST00000164133.2	+	2	672	c.50C>T	c.(49-51)cCc>cTc	p.P17L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	17					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCCTCCTCCCCCGGGCTGTCG	0.711													9	8					0	0	0	0	T	64693256	C	T	64693256	3	4	364	1	0	0	0	0	1	0	0	0	12469	623	22	4	52	4	PPP2R5B	11	64693256	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	257198	64693256	70313260	1166	70095											
PPP2R5B	5526	broad.mit.edu	37	chr11	64694328	64694328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgagctggtggagtgtgtggGgagcacccggggtgtcctca	5	8	19	9	2	1	0	1	0	0	0	2	3	2	2	2	6	2	2	2	6	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64694328G>A	ENST00000164133.2	+	3	966	c.344G>A	c.(343-345)gGg>gAg	p.G115E		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	115					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GAGTGTGTGGGGAGCACCCGG	0.652													11	35					0	0	0	0	A	64694328	G	A	64694328	3	1	364	1	0	0	0	0	1	0	0	0	12469	1232	43	4	350	4	PPP2R5B	11	64694328	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1072	64694328	70312188	1167	70096											
SYVN1	84447	broad.mit.edu	37	chr11	64897364	64897364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcccagcaaagcccgcagGgggcacaggcattgggggga	10	2	17	12	1	0	0	0	0	0	0	0	1	0	1	2	6	3	4	2	6	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64897364G>A	ENST00000526060.1	-	14	1621	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S	SYVN1_ENST00000294256.8_Missense_Mutation_p.P477S|SYVN1_ENST00000307289.6_Missense_Mutation_p.P426S|SYVN1_ENST00000377190.3_Missense_Mutation_p.P478S			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	478	Pro-rich.				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AAGCCCGCAGGGGGCACAGGC	0.657													5	22					0	0	0	0	A	64897364	G	A	64897364	3	1	364	1	0	0	0	0	1	0	0	0	15578	1232	43	4	433	4	SYVN1	11	64897364	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	203036	64897364	70109152	1168	70097											
SLC22A20	440044	broad.mit.edu	37	chr11	65000798	65000798	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccttcctcatcctggcCgggctcatggtgatcgccaa	5	10	10	16	2	2	1	2	1	0	0	6	1	5	1	6	3	0	1	6	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:65000798C>T	ENST00000525437.1	+	0	1259							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TCATCCTGGCCGGGCTCATGG	0.607													10	15					0	0	0	0	T	65000798	C	T	65000798	1	4	364	0	1	0	0	0	0	0	0	0	14540	667	23	1		1	SLC22A20	11	65000798	RNA	SNP	C	TCGA-D6-6516-01A-11D-1870-08	103434	65000798	70005718	1169	70098											
PCNXL3	399909	broad.mit.edu	37	chr11	65398034	65398034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgctgcctccatgctgcagGttttcgacctccgcaagatc	7	11	9	14	2	0	1	0	0	0	1	4	2	2	1	4	1	4	5	4	1	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:65398034G>A	ENST00000355703.3	+	27	4968	c.4429G>A	c.(4429-4431)Gtt>Att	p.V1477I	PCNXL3_ENST00000531280.1_3'UTR	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1477						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CATGCTGCAGGTTTTCGACCT	0.592													12	44					0	0	0	0	A	65398034	G	A	65398034	3	1	364	1	0	0	0	0	1	0	0	0	11664	1261	44	4	4535	4	PCNXL3	11	65398034	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	397236	65398034	69608482	1170	70099											
MUS81	80198	broad.mit.edu	37	chr11	65633309	65633309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcctatgatgcctgtgcCacccccaaggaacaagagac	11	5	10	15	1	0	2	0	1	0	1	0	4	0	3	6	1	3	0	6	1	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:65633309C>T	ENST00000308110.4	+	15	1882	c.1533C>T	c.(1531-1533)gcC>gcT	p.A511A	MUS81_ENST00000533035.1_Silent_p.A436A	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	511					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		ATGCCTGTGCCACCCCCAAGG	0.627								Homologous recombination					17	101					0	0	0	0	T	65633309	C	T	65633309	2	4	364	1	0	0	0	0	0	0	0	1	10058	581	21	4		4	MUS81	11	65633309	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	235275	65633309	69373207	1171	70100											
PACS1	55690	broad.mit.edu	37	chr11	66002814	66002814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgatgcagtacgtcaacgGggcagccacgacacaccagc	11	4	13	13	3	1	1	1	1	0	0	1	2	1	1	2	3	5	3	2	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66002814G>A	ENST00000320580.4	+	18	2180	c.2147G>A	c.(2146-2148)gGg>gAg	p.G716E	PACS1_ENST00000529757.1_Missense_Mutation_p.G252E	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	716					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TACGTCAACGGGGCAGCCACG	0.537													26	59					0	0	0	0	A	66002814	G	A	66002814	3	1	364	1	0	0	0	0	1	0	0	0	11443	1232	43	4	2217	4	PACS1	11	66002814	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	369505	66002814	69003702	1172	70101											
CD248	57124	broad.mit.edu	37	chr11	66082791	66082791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgaggacaagggcatctgGggcttgagggggtagctggg	7	8	20	6	0	2	2	0	2	2	0	2	3	2	3	0	7	1	4	0	7	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66082791G>A	ENST00000311330.3	-	1	1724	c.1708C>T	c.(1708-1710)Cca>Tca	p.P570S	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	570	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	AGGGCATCTGGGGCTTGAGGG	0.637													53	92					0	0	0	0	A	66082791	G	A	66082791	3	1	364	1	0	0	0	0	1	0	0	0	3018	1232	43	4	569	4	CD248	11	66082791	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	79977	66082791	68923725	1173	70102											
ACTN3	89	broad.mit.edu	37	chr11	66319003	66319003	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctcttaaacccaggtgaGaggctgcctaggccagataa	11	8	10	12	0	1	2	0	1	1	2	2	3	2	2	4	3	2	1	4	3	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66319003G>A	ENST00000513398.1	+	0	364				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						ACCCAGGTGAGAGGCTGCCTA	0.547													3	22					0	0	0	0	A	66319003	G	A	66319003	1	1	364	0	1	0	0	0	0	0	0	0	206	933	33	2		2	ACTN3	11	66319003	RNA	SNP	G	TCGA-D6-6516-01A-11D-1870-08	236212	66319003	68687513	1174	70103											
ACTN3	89	broad.mit.edu	37	chr11	66330270	66330270	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcctctatccctgcaggggGaagtggagtttgctcgcatc	6	10	14	11	1	1	0	0	0	1	0	4	2	2	2	2	4	2	4	2	4	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66330270G>A	ENST00000513398.1	+	0	2489				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CCTGCAGGGGGAAGTGGAGTT	0.597													31	176					0	0	0	0	A	66330270	G	A	66330270	1	1	364	0	1	0	0	0	0	0	0	0	206	1175	41	2		2	ACTN3	11	66330270	RNA	SNP	G	TCGA-D6-6516-01A-11D-1870-08	11267	66330270	68676246	1175	70104											
ACTN3	89	broad.mit.edu	37	chr11	66330648	66330648	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttctccagtgccctctatgGggagagcgacctttgacccc	6	10	10	15	1	2	2	0	1	2	1	3	4	2	2	5	2	2	0	5	2	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66330648G>A	ENST00000513398.1	+	0	2787				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						GCCCTCTATGGGGAGAGCGAC	0.622													14	62					0	0	0	0	A	66330648	G	A	66330648	1	1	364	0	1	0	0	0	0	0	0	0	206	1232	43	4		4	ACTN3	11	66330648	RNA	SNP	G	TCGA-D6-6516-01A-11D-1870-08	378	66330648	68675868	1176	70105											
RBM14	10432	broad.mit.edu	37	chr11	66391953	66391953	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggctttgatgggcaagcCcgtcagcccacaccaccctt	7	8	11	15	1	1	1	1	1	0	0	1	1	1	1	4	3	2	2	4	3	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66391953C>T	ENST00000310137.4	+	2	745	c.606C>T	c.(604-606)gcC>gcT	p.A202A	RBM4_ENST00000503028.2_Intron|RBM14_ENST00000461478.1_3'UTR|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409372.1_3'UTR|RBM14_ENST00000393979.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	202					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ATGGGCAAGCCCGTCAGCCCA	0.632													10	55					0	0	0	0	T	66391953	C	T	66391953	2	4	364	1	0	0	0	0	0	0	0	1	13197	610	22	4		4	RBM14	11	66391953	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	61305	66391953	68614563	1177	70106											
SPTBN2	6712	broad.mit.edu	37	chr11	66460040	66460040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtcctggcccagctcgtgGgaggccgccaccacctcgcg	5	6	13	17	4	0	0	0	0	0	0	3	1	1	1	6	3	1	1	6	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66460040G>A	ENST00000533211.1	-	26	5488	c.5157C>T	c.(5155-5157)tcC>tcT	p.S1719S	SPTBN2_ENST00000529997.1_Silent_p.S1719S|SPTBN2_ENST00000309996.2_Silent_p.S1719S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1719					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCAGCTCGTGGGAGGCCGCCA	0.662													13	48					0	0	0	0	A	66460040	G	A	66460040	2	1	364	1	0	0	0	0	0	0	0	1	15210	1219	43	4		4	SPTBN2	11	66460040	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	68087	66460040	68546476	1178	70107											
SPTBN2	6712	broad.mit.edu	37	chr11	66463938	66463938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagctcgtcccagcgcCtgtgcaggtctctcagcttc	4	11	9	17	2	3	0	1	0	2	0	8	0	4	0	3	1	4	3	3	1	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66463938C>T	ENST00000533211.1	-	21	4419	c.4088G>A	c.(4087-4089)aGg>aAg	p.R1363K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1363K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1363K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1363					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTCCCAGCGCCTGTGCAGGTC	0.602													21	137					0	0	0	0	T	66463938	C	T	66463938	3	4	364	1	0	0	0	0	1	0	0	0	15210	681	24	4	3156	4	SPTBN2	11	66463938	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3898	66463938	68542578	1179	70108											
ALDH3B2	222	broad.mit.edu	37	chr11	67433649	67433649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgccctgtctcctggggtCcgcccagcaccacggcaaag	6	6	12	17	2	1	0	0	0	1	0	3	0	2	0	5	3	2	3	5	3	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:67433649C>T	ENST00000349015.3	-	6	701	c.263G>A	c.(262-264)gGa>gAa	p.G88E	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.G88E	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	88					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CTCCTGGGGTCCGCCCAGCAC	0.642													16	100					0	0	0	0	T	67433649	C	T	67433649	3	4	364	1	0	0	0	0	1	0	0	0	500	855	30	2	914	2	ALDH3B2	11	67433649	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	969711	67433649	67572867	1180	70109											
SHANK2	22941	broad.mit.edu	37	chr11	70506043	70506043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtgttggtgtgaattcttCaatgggtgtgtcagctggga	6	14	16	5	1	3	1	2	1	1	0	3	2	3	2	0	4	1	2	0	4	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:70506043C>T	ENST00000338508.4	-	23	1953	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	SHANK2_ENST00000449833.2_Missense_Mutation_p.E63K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E62K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E272K|SHANK2_ENST00000357171.3_Missense_Mutation_p.E63K|SHANK2_ENST00000449116.2_Missense_Mutation_p.E63K|SHANK2_ENST00000409530.1_Missense_Mutation_p.E62K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	272					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTGAATTCTTCAATGGGTGTG	0.582													4	43					0	0	0	0	T	70506043	C	T	70506043	3	4	364	1	0	0	0	0	1	0	0	0	14353	835	29	2	3638	2	SHANK2	11	70506043	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3072394	70506043	64500473	1181	70110											
FCHSD2	9873	broad.mit.edu	37	chr11	72553697	72553697	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatccatggagtgtcaccaTtttctgaggctgaaagttct	9	14	9	9	0	4	2	2	2	2	0	5	3	5	3	2	2	0	2	2	2	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:72553697T>A	ENST00000409314.1	-	18	2135	c.1967A>T	c.(1966-1968)aAt>aTt	p.N656I	ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000409263.1_Intron|FCHSD2_ENST00000458644.2_Missense_Mutation_p.N496I|FCHSD2_ENST00000409418.4_Missense_Mutation_p.N632I|FCHSD2_ENST00000311172.7_Missense_Mutation_p.N576I			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	632							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AGTGTCACCATTTTCTGAGGC	0.438													19	149					0	0	0	0	A	72553697	T	A	72553697	3	1	364	1	0	0	0	0	1	0	0	0	5835	1493	52	5	343	5	FCHSD2	11	72553697	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	2047654	72553697	62452819	1182	70111											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021299	73021299	+	Missense_Mutation	SNP	C	C	T																															cacactcaaggacttgacagCcactctgcggagagcaaagt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73021299C>T	ENST00000263674.3	+	1	1966	c.1616C>T	c.(1615-1617)gCc>gTc	p.A539V		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	539					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GACTTGACAGCCACTCTGCGG	0.637													12	42					0	0	0	0	T	73021299	C	T	73021299	3	4	364	1	0	0	0	0	1	0	0	0	902	739	26	4	1618	4	ARHGEF17	11	73021299	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	467602	73021299	61985217	1183	70112	910	2									
ARHGEF17	9828	broad.mit.edu	37	chr11	73021300	73021300	+	Silent	SNP	C	C	T																															acactcaaggacttgacagcCactctgcggagagcaaagtc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73021300C>T	ENST00000263674.3	+	1	1967	c.1617C>T	c.(1615-1617)gcC>gcT	p.A539A		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	539					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACTTGACAGCCACTCTGCGGA	0.637													12	42					0	0	0	0	T	73021300	C	T	73021300	2	4	364	1	0	0	0	0	0	0	0	1	902	581	21	4		4	ARHGEF17	11	73021300	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	73021300	61985216	1184	70113	910	2									
ARHGEF17	9828	broad.mit.edu	37	chr11	73021729	73021729	+	Silent	SNP	C	C	T																															gcccagacgaaccaccatggCcctgggactgaggacagtct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73021729C>T	ENST00000263674.3	+	1	2396	c.2046C>T	c.(2044-2046)ggC>ggT	p.G682G		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	682					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACCACCATGGCCCTGGGACTG	0.657													12	44					0	0	0	0	T	73021729	C	T	73021729	2	4	364	1	0	0	0	0	0	0	0	1	902	726	26	4		4	ARHGEF17	11	73021729	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	429	73021729	61984787	1185	70114	911	2									
ARHGEF17	9828	broad.mit.edu	37	chr11	73021730	73021730	+	Missense_Mutation	SNP	C	C	T																															cccagacgaaccaccatggcCctgggactgaggacagtctg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73021730C>T	ENST00000263674.3	+	1	2397	c.2047C>T	c.(2047-2049)Cct>Tct	p.P683S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	683					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCACCATGGCCCTGGGACTGA	0.657													12	44					0	0	0	0	T	73021730	C	T	73021730	3	4	364	1	0	0	0	0	1	0	0	0	902	623	22	4	2049	4	ARHGEF17	11	73021730	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	73021730	61984786	1186	70115	911	2									
C2CD3	26005	broad.mit.edu	37	chr11	73789715	73789715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgagctccaggccatgagGtaggcccccgtcttctggta	7	9	12	13	1	2	2	0	2	2	0	3	2	3	2	4	4	1	3	4	4	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73789715G>A	ENST00000334126.7	-	23	4274	c.4048C>T	c.(4048-4050)Cct>Tct	p.P1350S	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1350S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1350						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGGCCATGAGGTAGGCCCCCG	0.453													21	95					0	0	0	0	A	73789715	G	A	73789715	3	1	364	1	0	0	0	0	1	0	0	0	2174	1261	44	4	1879	4	C2CD3	11	73789715	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	767985	73789715	61216801	1187	70116											
C2CD3	26005	broad.mit.edu	37	chr11	73814404	73814404	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaaattatgggaggctggCgtagctacgaaggttgaagg	12	9	15	5	2	0	1	0	1	0	0	0	3	0	2	0	5	2	4	0	5	7	5	rs147082398		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73814404C>A	ENST00000334126.7	-	14	2578	c.2352G>T	c.(2350-2352)acG>acT	p.T784T	C2CD3_ENST00000313663.7_Silent_p.T784T			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	784						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGGAGGCTGGCGTAGCTACGA	0.458													3	85					1	1	1	0	A	73814404	C	A	73814404	2	1	364	1	0	0	0	0	0	0	0	1	2174	755	27	3		3	C2CD3	11	73814404	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	24689	73814404	61192112	1188	70117											
INTS4	92105	broad.mit.edu	37	chr11	77669821	77669821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagagctgactgacgacccaGataagctggactgcagcact	12	7	11	11	1	0	4	0	2	0	2	0	6	0	5	1	1	4	4	1	1	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:77669821G>A	ENST00000534064.1	-	7	802	c.768C>T	c.(766-768)atC>atT	p.I256I	INTS4_ENST00000529807.1_Silent_p.I256I	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	256					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGACGACCCAGATAAGCTGGA	0.458													7	56					0	0	0	0	A	77669821	G	A	77669821	2	1	364	1	0	0	0	0	0	0	0	1	7833	932	33	2		2	INTS4	11	77669821	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3855417	77669821	57336695	1189	70118											
GAB2	9846	broad.mit.edu	37	chr11	77937683	77937683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggggagctatggctgagtcCccaggagtggccactgtcat	7	8	16	10	0	1	1	1	1	0	0	2	3	2	3	3	5	1	2	3	5	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:77937683C>T	ENST00000361507.4	-	4	1120	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	GAB2_ENST00000340149.2_Silent_p.G307G	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	345					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TGGCTGAGTCCCCAGGAGTGG	0.567													11	80					0	0	0	0	T	77937683	C	T	77937683	2	4	364	1	0	0	0	0	0	0	0	1	6197	610	22	4		4	GAB2	11	77937683	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	267862	77937683	57068833	1190	70119											
SYTL2	54843	broad.mit.edu	37	chr11	85445671	85445671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctggctttggggattGgagccttgatttgggaccca	5	14	13	9	0	1	1	0	1	1	0	2	4	2	4	3	5	1	1	3	5	0	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:85445671G>A	ENST00000316356.4	-	7	1265	c.701C>T	c.(700-702)cCa>cTa	p.P234L	SYTL2_ENST00000389960.4_Missense_Mutation_p.P233L|SYTL2_ENST00000528231.1_Missense_Mutation_p.P233L|SYTL2_ENST00000527523.1_Missense_Mutation_p.P185L|SYTL2_ENST00000524452.1_Missense_Mutation_p.P233L			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	233					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTTGGGGATTGGAGCCTTGAT	0.408													17	70					0	0	0	0	A	85445671	G	A	85445671	3	1	364	1	0	0	0	0	1	0	0	0	15574	1348	47	4	4639	4	SYTL2	11	85445671	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	7507988	85445671	49560845	1191	70120											
GRM5	2915	broad.mit.edu	37	chr11	88780752	88780752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccgaatgccagcaggagtCccttatctcacagcccagtg	10	7	10	14	1	1	0	1	0	1	0	3	2	2	1	4	1	4	1	4	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:88780752C>T	ENST00000418177.2	-	2	656	c.289G>A	c.(289-291)Gac>Aac	p.D97N	GRM5_ENST00000455756.2_Missense_Mutation_p.D97N|GRM5_ENST00000393294.3_Missense_Mutation_p.D97N|GRM5_ENST00000305432.5_Missense_Mutation_p.D97N|GRM5_ENST00000393297.1_Missense_Mutation_p.D97N|GRM5_ENST00000305447.4_Missense_Mutation_p.D97N			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	97					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CAGCAGGAGTCCCTTATCTCA	0.512													9	26					0	0	0	0	T	88780752	C	T	88780752	3	4	364	1	0	0	0	0	1	0	0	0	6850	855	30	2	3385	2	GRM5	11	88780752	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3335081	88780752	46225764	1192	70121											
TYR	7299	broad.mit.edu	37	chr11	88911532	88911532	+	Nonsense_Mutation	SNP	C	C	A																															aaggacaaattttttgcctaCctcactttagcaaagcatac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:88911532C>A	ENST00000263321.5	+	1	913	c.411C>A	c.(409-411)taC>taA	p.Y137*	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	137					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTTTTGCCTACCTCACTTTAG	0.443													24	194					7.41945e-09	7.56762e-09	1	0	A	88911532	C	A	88911532	4	1	364	1	0	0	0	0	0	1	0	0	16909	518	18	4	413	4	TYR	11	88911532	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	130780	88911532	46094984	1193	70122	912	2									
TYR	7299	broad.mit.edu	37	chr11	88911533	88911533	+	Missense_Mutation	SNP	C	C	T																															aggacaaattttttgcctacCtcactttagcaaagcatacc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:88911533C>T	ENST00000263321.5	+	1	914	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	138					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTTTGCCTACCTCACTTTAGC	0.443													25	193					0	0	0	0	T	88911533	C	T	88911533	3	4	364	1	0	0	0	0	1	0	0	0	16909	681	24	4	414	4	TYR	11	88911533	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	88911533	46094983	1194	70123	912	2									
NAALAD2	10003	broad.mit.edu	37	chr11	89902144	89902144	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcattgcttatatcaactcGgattcatctatagaaggtaa	14	13	7	7	1	3	1	2	0	1	1	4	2	3	2	0	2	3	3	0	2	7	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:89902144G>C	ENST00000534061.1	+	12	1556	c.1326G>C	c.(1324-1326)tcG>tcC	p.S442S	NAALAD2_ENST00000321955.4_Silent_p.S409S|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	442	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATATCAACTCGGATTCATCTA	0.294													8	73					0	0	0	0	C	89902144	G	C	89902144	2	2	364	1	0	0	0	0	0	0	0	1	10198	1103	39	3		3	NAALAD2	11	89902144	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	990611	89902144	45104372	1195	70124											
FAT3	120114	broad.mit.edu	37	chr11	92624018	92624018	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccattccccaacgaaacGgatttggtgggcccgcctgc	8	7	10	16	3	0	0	0	0	0	0	1	2	1	1	5	3	3	0	5	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:92624018G>A	ENST00000298047.6	+	27	13526	c.13509G>A	c.(13507-13509)acG>acA	p.T4503T	FAT3_ENST00000533797.1_Silent_p.T806T|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Silent_p.T4353T|FAT3_ENST00000409404.2_Silent_p.T4471T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4503	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAACGAAACGGATTTGGTGG	0.582										TCGA Ovarian(4;0.039)			15	32					0	0	0	0	A	92624018	G	A	92624018	2	1	364	1	0	0	0	0	0	0	0	1	5736	1103	39	1		1	FAT3	11	92624018	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2721874	92624018	42382498	1196	70125											
GPR83	10888	broad.mit.edu	37	chr11	94129658	94129658	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgacatggcacatgcccttCccaaatatccatgtgctgtt	9	12	7	13	0	0	1	0	1	0	0	2	1	2	1	3	1	2	3	3	1	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:94129658C>T	ENST00000243673.2	-	2	591	c.420G>A	c.(418-420)ggG>ggA	p.G140G	GPR83_ENST00000539203.2_Intron	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	140						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACATGCCCTTCCCAAATATCC	0.547													18	37					0	0	0	0	T	94129658	C	T	94129658	2	4	364	1	0	0	0	0	0	0	0	1	6762	842	30	2		2	GPR83	11	94129658	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1505640	94129658	40876858	1197	70126											
ANKRD49	54851	broad.mit.edu	37	chr11	94230098	94230098	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaagcagattgcttctttGggctgctgaaaaaaatcggg	11	10	11	9	1	1	2	0	1	1	1	2	2	1	2	1	2	3	4	1	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:94230098G>A	ENST00000544253.1	+	2	357	c.239G>A	c.(238-240)tGg>tAg	p.W80*	ANKRD49_ENST00000302755.4_Nonsense_Mutation_p.W80*|ANKRD49_ENST00000540349.1_Nonsense_Mutation_p.W80*|ANKRD49_ENST00000544612.1_Nonsense_Mutation_p.W80*			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	80					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGCTTCTTTGGGCTGCTGAA	0.393													27	109					0	0	0	0	A	94230098	G	A	94230098	4	1	364	1	0	0	0	0	0	1	0	0	674	1357	47	4	241	4	ANKRD49	11	94230098	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	100440	94230098	40776418	1198	70127											
MMP27	64066	broad.mit.edu	37	chr11	102567462	102567462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagtgggtattttctgggatCcagggagacataatttggga	11	12	14	4	0	1	1	0	0	1	1	2	4	2	3	1	4	0	1	1	4	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:102567462C>T	ENST00000260229.4	-	5	815	c.724G>A	c.(724-726)Gat>Aat	p.D242N		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	242					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TTTCTGGGATCCAGGGAGACA	0.403													10	44					0	0	0	0	T	102567462	C	T	102567462	3	4	364	1	0	0	0	0	1	0	0	0	9734	855	30	2	841	2	MMP27	11	102567462	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	8337364	102567462	32439054	1199	70128											
MMP13	4322	broad.mit.edu	37	chr11	102825319	102825319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcagaatgagtcatatcagGggtgtaattcacaattctat	13	14	8	6	0	5	2	4	1	1	1	5	2	5	2	0	2	0	1	0	2	5	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:102825319G>A	ENST00000260302.3	-	3	407	c.379C>T	c.(379-381)Cct>Tct	p.P127S	MMP13_ENST00000340273.4_Missense_Mutation_p.P127S	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	127					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTCATATCAGGGGTGTAATTC	0.343													23	61					0	0	0	0	A	102825319	G	A	102825319	3	1	364	1	0	0	0	0	1	0	0	0	9721	1232	43	4	1068	4	MMP13	11	102825319	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	257857	102825319	32181197	1200	70129											
DYNC2H1	79659	broad.mit.edu	37	chr11	103006531	103006531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgaagagattcatcggcattCcaaatcagtttaagggagtg	13	11	11	6	1	2	2	2	1	0	1	4	4	3	3	1	2	0	2	1	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:103006531C>T	ENST00000375735.2	+	17	2572	c.2428C>T	c.(2428-2430)Cca>Tca	p.P810S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P810S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	810	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATCGGCATTCCAAATCAGTT	0.358													6	39					0	0	0	0	T	103006531	C	T	103006531	3	4	364	1	0	0	0	0	1	0	0	0	4882	855	30	2	2494	2	DYNC2H1	11	103006531	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	181212	103006531	31999985	1201	70130											
CASP5	838	broad.mit.edu	37	chr11	104878062	104878062	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttttttgtggttgtcttCtgtcagaaatagaaagactc	9	19	8	5	0	3	3	1	0	2	3	4	3	3	3	0	1	0	1	0	1	3	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:104878062C>T	ENST00000393141.2	-	3	252		c.e3-1		CASP5_ENST00000444749.2_Splice_Site|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_Splice_Site|CASP5_ENST00000260315.3_Splice_Site|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000526056.1_Splice_Site	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase						apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TGGTTGTCTTCTGTCAGAAAT	0.353													15	97					0	0	0	0	T	104878062	C	T	104878062	5	4	364	1	0	0	0	0	0	0	1	0	2699	927	32	2	1151	2	CASP5	11	104878062	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1871531	104878062	30128454	1202	70131											
GRIA4	2893	broad.mit.edu	37	chr11	105789574	105789574	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaattgccattgtccctgAtggaaaatatggagcaaggg	14	10	11	6	0	0	1	0	1	0	0	1	3	1	3	2	3	2	1	2	3	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:105789574A>T	ENST00000393127.2	+	11	1852	c.1406A>T	c.(1405-1407)gAt>gTt	p.D469V	GRIA4_ENST00000282499.5_Missense_Mutation_p.D469V|GRIA4_ENST00000525187.1_Missense_Mutation_p.D469V|GRIA4_ENST00000530497.1_Missense_Mutation_p.D469V	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	469					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATTGTCCCTGATGGAAAATAT	0.358													14	34					0	0	0	0	T	105789574	A	T	105789574	3	4	364	1	0	0	0	0	1	0	0	0	6820	333	12	5	1481	5	GRIA4	11	105789574	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	911512	105789574	29216942	1203	70132											
NPAT	4863	broad.mit.edu	37	chr11	108031734	108031734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgctccttgaagatgctCtaaactgttgtgtgttatct	7	17	10	7	0	2	2	0	1	2	1	3	2	3	2	1	1	3	4	1	1	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:108031734C>T	ENST00000278612.8	-	17	4184	c.4079G>A	c.(4078-4080)aGa>aAa	p.R1360K		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1360					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGAAGATGCTCTAAACTGTTG	0.403													21	91					0	0	0	0	T	108031734	C	T	108031734	3	4	364	1	0	0	0	0	1	0	0	0	10636	913	32	2	212	2	NPAT	11	108031734	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2242160	108031734	26974782	1204	70133											
C11orf65	160140	broad.mit.edu	37	chr11	108276232	108276232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcagtttagagaaatGgaattcactttcctttttgt	9	19	6	7	0	3	1	2	0	1	1	5	3	4	2	1	1	0	1	1	1	3	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:108276232G>A	ENST00000525729.1	-	4	406	c.337C>T	c.(337-339)Cat>Tat	p.H113Y	C11orf65_ENST00000529391.1_Missense_Mutation_p.H162Y|C11orf65_ENST00000393084.1_Missense_Mutation_p.H162Y|C11orf65_ENST00000526725.1_5'UTR			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	162										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TTAGAGAAATGGAATTCACTT	0.318													14	69					0	0	0	0	A	108276232	G	A	108276232	3	1	364	1	0	0	0	0	1	0	0	0	1666	1348	47	4	473	4	C11orf65	11	108276232	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	244498	108276232	26730284	1205	70134											
ZW10	9183	broad.mit.edu	37	chr11	113631062	113631062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaaatcaaagcattttctgGattttaataacttcaagcat	15	16	4	6	0	3	0	2	0	1	0	3	1	3	1	0	1	3	2	0	1	6	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:113631062G>A	ENST00000200135.3	-	5	593	c.449C>T	c.(448-450)tCc>tTc	p.S150F		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	150	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GCATTTTCTGGATTTTAATAA	0.353													17	65					0	0	0	0	A	113631062	G	A	113631062	3	1	364	1	0	0	0	0	1	0	0	0	18338	1174	41	2	1938	2	ZW10	11	113631062	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5354830	113631062	21375454	1206	70135											
BUD13	84811	broad.mit.edu	37	chr11	116631629	116631629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggactttgtttatgccgtGgagaagaaaggtctgaatca	11	12	12	6	1	2	3	1	1	1	2	2	5	2	4	1	3	1	1	1	3	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:116631629G>A	ENST00000260210.4	-	5	1099	c.1076C>T	c.(1075-1077)cCa>cTa	p.P359L	BUD13_ENST00000375445.3_Missense_Mutation_p.P225L	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	359										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TTTATGCCGTGGAGAAGAAAG	0.478													14	65					0	0	0	0	A	116631629	G	A	116631629	3	1	364	1	0	0	0	0	1	0	0	0	1582	1348	47	4	807	4	BUD13	11	116631629	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3000567	116631629	18374887	1207	70136											
DSCAML1	57453	broad.mit.edu	37	chr11	117301448	117301448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcactcactcttgttggcCcggtgagggatgggcacagc	7	8	15	11	1	2	1	1	1	1	0	2	3	2	2	1	4	2	3	1	4	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:117301448C>T	ENST00000321322.6	-	32	5857	c.5856G>A	c.(5854-5856)cgG>cgA	p.R1952R	DSCAML1_ENST00000527706.1_Silent_p.R1682R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1892					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTGTTGGCCCGGTGAGGGA	0.667													14	98					0	0	0	0	T	117301448	C	T	117301448	2	4	364	1	0	0	0	0	0	0	0	1	4805	610	22	4		4	DSCAML1	11	117301448	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	669819	117301448	17705068	1208	70137											
MPZL3	196264	broad.mit.edu	37	chr11	118111019	118111019	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttgaaagtgcatttcaaCttgatcttttctccaacata	12	15	5	9	0	3	2	1	2	2	0	4	3	3	2	1	0	3	1	1	0	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:118111019C>T	ENST00000278949.4	-	2	202	c.147G>A	c.(145-147)aaG>aaA	p.K49K	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Silent_p.K37K			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	49	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGCATTTCAACTTGATCTTTT	0.423													21	55					0	0	0	0	T	118111019	C	T	118111019	2	4	364	1	0	0	0	0	0	0	0	1	9821	564	20	4		4	MPZL3	11	118111019	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	809571	118111019	16895497	1209	70138											
MPZL2	10205	broad.mit.edu	37	chr11	118133656	118133656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctacttacaaactgctcaGgtcccccgtctagaggacga	11	9	8	13	2	3	1	1	0	2	1	4	3	4	2	2	2	4	1	2	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:118133656G>A	ENST00000278937.2	-	2	343	c.215C>T	c.(214-216)cCt>cTt	p.P72L	MPZL2_ENST00000438295.2_Missense_Mutation_p.P72L|MPZL2_ENST00000525647.1_5'UTR	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	72	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AAACTGCTCAGGTCCCCCGTC	0.438													73	158					0	0	0	0	A	118133656	G	A	118133656	3	1	364	1	0	0	0	0	1	0	0	0	9820	1000	35	4	448	4	MPZL2	11	118133656	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	22637	118133656	16872860	1210	70139											
HINFP	25988	broad.mit.edu	37	chr11	119005131	119005131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggggagcctcccccaGcccctgagccaccttcaggg	6	4	11	20	0	1	1	1	1	0	0	2	2	2	2	9	3	3	0	9	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119005131G>A	ENST00000350777.2	+	10	1540	c.1477G>A	c.(1477-1479)Gcc>Acc	p.A493T		NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	493	Interaction with NPAT.		A -> V (in dbSNP:rs100803).		DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCCTCCCCCAGCCCCTGAGCC	0.567											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	56					0	0	0	0	A	119005131	G	A	119005131	3	1	364	1	0	0	0	0	1	0	0	0	7160	971	34	4	1511	4	HINFP	11	119005131	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	871475	119005131	16001385	1211	70140											
NLRX1	79671	broad.mit.edu	37	chr11	119044583	119044583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcatccctgggccctgccCcagcctccctgtgccaactt	4	10	8	19	0	1	0	1	0	0	0	3	0	3	0	7	1	4	0	7	1	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119044583C>T	ENST00000409109.1	+	5	1212	c.625C>T	c.(625-627)Cca>Tca	p.P209S	NLRX1_ENST00000409265.4_Missense_Mutation_p.P209S|NLRX1_ENST00000409991.1_Missense_Mutation_p.P209S|NLRX1_ENST00000292199.2_Missense_Mutation_p.P209S|NLRX1_ENST00000525863.1_Missense_Mutation_p.P209S			Q86UT6	NLRX1_HUMAN	NLR family member X1	209	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGCCCTGCCCCAGCCTCCCT	0.642													17	28					0	0	0	0	T	119044583	C	T	119044583	3	4	364	1	0	0	0	0	1	0	0	0	10555	623	22	4	639	4	NLRX1	11	119044583	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	39452	119044583	15961933	1212	70141											
NLRX1	79671	broad.mit.edu	37	chr11	119052950	119052950	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgcccagctggaccgcaaCcggcagctgcaggagctgaa	9	4	14	14	2	0	1	0	1	0	0	0	3	0	3	3	3	6	7	3	3	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119052950C>T	ENST00000409109.1	+	9	3089	c.2502C>T	c.(2500-2502)aaC>aaT	p.N834N	NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409265.4_Silent_p.N834N|NLRX1_ENST00000409991.1_Silent_p.N834N|NLRX1_ENST00000292199.2_Silent_p.N834N|NLRX1_ENST00000525863.1_Silent_p.N834N			Q86UT6	NLRX1_HUMAN	NLR family member X1	834	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGACCGCAACCGGCAGCTGC	0.682													15	67					0	0	0	0	T	119052950	C	T	119052950	2	4	364	1	0	0	0	0	0	0	0	1	10555	506	18	4		4	NLRX1	11	119052950	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	8367	119052950	15953566	1213	70142											
MCAM	4162	broad.mit.edu	37	chr11	119183335	119183335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cattcccacgggctccacttCcagccacactttttctgtcg	6	12	6	17	2	1	0	0	0	1	0	5	0	4	0	4	1	1	1	4	1	0	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119183335C>T	ENST00000392814.1	-	2	1339	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	MCAM_ENST00000264036.4_Missense_Mutation_p.E255K			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	255	Ig-like V-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		p.E255K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GGCTCCACTTCCAGCCACACT	0.577													23	144					0	0	0	0	T	119183335	C	T	119183335	3	4	364	1	0	0	0	0	1	0	0	0	9437	864	30	2	1217	2	MCAM	11	119183335	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	130385	119183335	15823181	1214	70143											
ARHGEF12	23365	broad.mit.edu	37	chr11	120347993	120347993	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccacaaagccaattccatTaccacagtcaacacctggcg	14	7	5	15	1	1	0	1	0	0	0	3	0	3	0	5	1	3	0	5	1	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:120347993T>A	ENST00000397843.2	+	35	3597	c.3431T>A	c.(3430-3432)tTa>tAa	p.L1144*	ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.L1125*|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.L1041*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1144					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCAATTCCATTACCACAGTCA	0.398			T	MLL	AML								20	29					0	0	0	0	A	120347993	T	A	120347993	4	1	364	1	0	0	0	0	0	1	0	0	899	1764	61	5	3569	5	ARHGEF12	11	120347993	Nonsense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1164658	120347993	14658523	1215	70144											
TECTA	7007	broad.mit.edu	37	chr11	121008716	121008716	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgtgatccaccgagcttaCaagcacactgtgctggtgag	10	9	11	11	2	0	2	0	2	0	0	2	3	1	2	2	1	4	3	2	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:121008716C>A	ENST00000392793.1	+	11	3799	c.3528C>A	c.(3526-3528)taC>taA	p.Y1176*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.Y1176*			O75443	TECTA_HUMAN	tectorin alpha	1176	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACCGAGCTTACAAGCACACTG	0.577													7	29					8.12818e-05	8.22234e-05	1	0	A	121008716	C	A	121008716	4	1	364	1	0	0	0	0	0	1	0	0	15841	489	17	4	3566	4	TECTA	11	121008716	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	660723	121008716	13997800	1216	70145											
TMEM225	338661	broad.mit.edu	37	chr11	123755988	123755988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggcaacacatcatccaagGactgtggttcatcttggctc	10	10	10	11	0	3	0	2	0	1	0	5	1	4	1	1	4	1	3	1	4	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123755988G>T	ENST00000375026.2	-	1	361	c.145C>A	c.(145-147)Cct>Act	p.P49T		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	49						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATCATCCAAGGACTGTGGTTC	0.463													31	73					9.17885e-22	9.54558e-22	1	0	T	123755988	G	T	123755988	3	4	364	1	0	0	0	0	1	0	0	0	16241	1174	41	2	548	2	TMEM225	11	123755988	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2747272	123755988	11250528	1217	70146											
OR10G4	390264	broad.mit.edu	37	chr11	123887148	123887148	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccctgttgtgtacaccctGagaaacaaggaggtgaagaa	15	7	11	8	0	0	3	0	2	0	2	0	5	0	4	2	2	3	2	2	2	6	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123887148G>A	ENST00000320891.4	+	1	867	c.867G>A	c.(865-867)ctG>ctA	p.L289L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGTACACCCTGAGAAACAAGG	0.438													11	93					0	0	0	0	A	123887148	G	A	123887148	2	1	364	1	0	0	0	0	0	0	0	1	10972	1277	45	2		2	OR10G4	11	123887148	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	131160	123887148	11119368	1218	70147											
OR10G9	219870	broad.mit.edu	37	chr11	123894355	123894355	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcgggctgctttctcctGatagtgctgtcttatgtgtc	3	16	11	11	1	2	1	0	1	2	0	5	1	2	1	2	1	2	3	2	1	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123894355G>A	ENST00000375024.1	+	1	636	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCTTTCTCCTGATAGTGCTGT	0.567													45	94					0	0	0	0	A	123894355	G	A	123894355	2	1	364	1	0	0	0	0	0	0	0	1	10975	1277	45	2		2	OR10G9	11	123894355	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	7207	123894355	11112161	1219	70148											
OR10G8	219869	broad.mit.edu	37	chr11	123900446	123900446	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacgtgctcactgtgctgggGaacctcctcatcctgctggt	5	12	11	13	1	2	0	2	0	0	0	4	1	4	1	3	3	5	3	3	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123900446G>A	ENST00000431524.1	+	1	150	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGTGCTGGGGAACCTCCTCA	0.562													49	111					0	0	0	0	A	123900446	G	A	123900446	2	1	364	1	0	0	0	0	0	0	0	1	10974	1161	41	2		2	OR10G8	11	123900446	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6091	123900446	11106070	1220	70149											
OR10G8	219869	broad.mit.edu	37	chr11	123901244	123901244	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaagctgaaagacaaagtAgcacattctcagagcaaata	18	8	8	7	0	1	4	1	2	1	2	2	4	1	4	0	0	3	4	0	0	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123901244A>T	ENST00000431524.1	+	1	948	c.915A>T	c.(913-915)gtA>gtT	p.V305V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGACAAAGTAGCACATTCTC	0.443													10	63					0	0	0	0	T	123901244	A	T	123901244	2	4	364	1	0	0	0	0	0	0	0	1	10974	407	15	5		5	OR10G8	11	123901244	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	798	123901244	11105272	1221	70150											
OR8D1	283159	broad.mit.edu	37	chr11	124180597	124180597	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaagaggggcagctggagCtctgcttgctgtgttaaacc	9	9	15	8	0	1	1	0	0	1	1	1	3	1	3	1	4	5	6	1	4	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:124180597C>A	ENST00000357821.2	-	1	136	c.66G>T	c.(64-66)gaG>gaT	p.E22D		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCAGCTGGAGCTCTGCTTGCT	0.453													22	137					1.66031e-10	1.69922e-10	1	0	A	124180597	C	A	124180597	3	1	364	1	0	0	0	0	1	0	0	0	11302	796	28	4	863	4	OR8D1	11	124180597	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	279353	124180597	10825919	1222	70151											
PANX3	116337	broad.mit.edu	37	chr11	124487183	124487183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgcaggccctcccctactCcctgctggccctggccttgc	2	9	9	21	0	0	0	0	0	0	0	2	0	2	0	7	3	4	2	7	3	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:124487183C>T	ENST00000284288.2	+	3	405	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	113					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CTCCCCTACTCCCTGCTGGCC	0.647													5	29					0	0	0	0	T	124487183	C	T	124487183	3	4	364	1	0	0	0	0	1	0	0	0	11493	855	30	2	348	2	PANX3	11	124487183	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	306586	124487183	10519333	1223	70152											
CCDC15	80071	broad.mit.edu	37	chr11	124829770	124829770	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acacacttaacttccaaaagGacaagtgtttttccaaacaa	17	10	4	10	0	0	0	0	0	0	0	2	1	2	1	2	1	2	1	2	1	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:124829770G>A	ENST00000529051.1	+	4	646	c.387G>A	c.(385-387)agG>agA	p.R129R	CCDC15_ENST00000344762.5_Silent_p.R129R			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	129						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CTTCCAAAAGGACAAGTGTTT	0.428													5	21					0	0	0	0	A	124829770	G	A	124829770	2	1	364	1	0	0	0	0	0	0	0	1	2809	1165	41	2		2	CCDC15	11	124829770	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	342587	124829770	10176746	1224	70153											
PKNOX2	63876	broad.mit.edu	37	chr11	125267805	125267805	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtcctgagaatccacctGctggagctggagaaagtcaa	12	7	12	10	0	1	2	1	1	0	2	3	5	3	3	3	3	2	2	3	3	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:125267805G>T	ENST00000298282.9	+	7	706	c.435G>T	c.(433-435)ctG>ctT	p.L145L	PKNOX2_ENST00000542175.1_Silent_p.L81L|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	145						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GAATCCACCTGCTGGAGCTGG	0.532													8	74					0.000157383	0.000158969	1	0	T	125267805	G	T	125267805	2	4	364	1	0	0	0	0	0	0	0	1	12055	1306	46	4		4	PKNOX2	11	125267805	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	438035	125267805	9738711	1225	70154											
HYLS1	219844	broad.mit.edu	37	chr11	125769334	125769334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaacgaatgttggcagctgCtacagcttttacccacatct	11	11	8	11	1	1	1	0	0	1	1	1	2	1	1	1	1	6	5	1	1	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:125769334C>T	ENST00000425380.2	+	3	852	c.71C>T	c.(70-72)gCt>gTt	p.A24V	HYLS1_ENST00000526028.1_Missense_Mutation_p.A24V|HYLS1_ENST00000356438.3_Missense_Mutation_p.A24V|PUS3_ENST00000227474.3_Intron	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	24						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		TTGGCAGCTGCTACAGCTTTT	0.473													8	87					0	0	0	0	T	125769334	C	T	125769334	3	4	364	1	0	0	0	0	1	0	0	0	7522	797	28	4	73	4	HYLS1	11	125769334	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	501529	125769334	9237182	1226	70155											
ETS1	2113	broad.mit.edu	37	chr11	128426323	128426323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcataagtgttgctaggtCcttgcctctgtgcaagaaaa	10	13	9	9	0	2	1	1	0	1	1	3	1	3	1	2	1	3	3	2	1	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:128426323C>T	ENST00000392668.3	-	3	145	c.77G>A	c.(76-78)gGa>gAa	p.G26E	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	0					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GTTGCTAGGTCCTTGCCTCTG	0.393													5	22					0	0	0	0	T	128426323	C	T	128426323	3	4	364	1	0	0	0	0	1	0	0	0	5313	855	30	2	1498	2	ETS1	11	128426323	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2656989	128426323	6580193	1227	70156											
FLI1	2313	broad.mit.edu	37	chr11	128628073	128628073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtacggagcggcagccCatctccccaaggccgacatg	9	4	12	16	4	1	0	0	0	1	0	2	2	1	1	4	3	4	2	4	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:128628073C>T	ENST00000429175.2	+	2	346	c.82C>T	c.(82-84)Cat>Tat	p.H28Y	FLI1_ENST00000344954.6_5'UTR|FLI1_ENST00000534087.1_5'UTR|FLI1_ENST00000525560.1_5'UTR|FLI1_ENST00000527767.2_3'UTR	NM_002017.3	NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	28					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AGCGGCAGCCCATCTCCCCAA	0.622			T	EWSR1	Ewing sarcoma								3	12					0	0	0	0	T	128628073	C	T	128628073	3	4	364	1	0	0	0	0	1	0	0	0	5969	594	21	4	88	4	FLI1	11	128628073	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	201750	128628073	6378443	1228	70157											
FLI1	2313	broad.mit.edu	37	chr11	128638162	128638162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagaggagagtcatcgtccCcgcaggtaattcgagaacca	12	6	12	11	4	1	3	1	0	0	3	4	6	2	3	3	2	1	2	3	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:128638162C>T	ENST00000344954.6	+	3	669	c.281C>T	c.(280-282)cCc>cTc	p.P94L	FLI1_ENST00000534087.1_Missense_Mutation_p.P94L|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000429175.2_Missense_Mutation_p.P127L|FLI1_ENST00000281428.8_Missense_Mutation_p.P61L|FLI1_ENST00000527767.2_3'UTR			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	127					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GTCATCGTCCCCGCAGGTAAT	0.557			T	EWSR1	Ewing sarcoma								6	28					0	0	0	0	T	128638162	C	T	128638162	3	4	364	1	0	0	0	0	1	0	0	0	5969	623	22	4	390	4	FLI1	11	128638162	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	10089	128638162	6368354	1229	70158											
PRDM10	56980	broad.mit.edu	37	chr11	129802048	129802048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgctggtgatttccaggcgGataaattttggaggacgccc	8	11	13	9	3	0	1	0	1	0	0	2	4	1	4	2	5	0	1	2	5	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:129802048G>A	ENST00000358825.5	-	10	1467	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	PRDM10_ENST00000526082.1_Silent_p.I326I|PRDM10_ENST00000304538.6_Silent_p.I326I|PRDM10_ENST00000423662.2_Silent_p.I326I|PRDM10_ENST00000360871.3_Silent_p.I412I|PRDM10_ENST00000528746.1_Silent_p.I386I	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTCCAGGCGGATAAATTTTG	0.577													18	71					0	0	0	0	A	129802048	G	A	129802048	2	1	364	1	0	0	0	0	0	0	0	1	12531	1164	41	2		2	PRDM10	11	129802048	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1163886	129802048	5204468	1230	70159											
NTM	50863	broad.mit.edu	37	chr11	132016247	132016247	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctctatgctgggaatgAcaagtggtgcctggatcctc	8	11	11	11	0	1	1	0	1	1	0	4	3	3	3	3	3	2	1	3	3	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:132016247A>T	ENST00000374786.1	+	2	718	c.239A>T	c.(238-240)gAc>gTc	p.D80V	NTM_ENST00000539799.1_Missense_Mutation_p.D80V|NTM_ENST00000427481.2_Missense_Mutation_p.D71V|NTM_ENST00000374791.3_Missense_Mutation_p.D80V|NTM_ENST00000425719.2_Missense_Mutation_p.D80V|NTM_ENST00000374784.1_Missense_Mutation_p.D80V	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	80	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GCTGGGAATGACAAGTGGTGC	0.562													7	76					0	0	0	0	T	132016247	A	T	132016247	3	4	364	1	0	0	0	0	1	0	0	0	10770	275	10	5	331	5	NTM	11	132016247	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	2214199	132016247	2990269	1231	70160											
OPCML	4978	broad.mit.edu	37	chr11	132306111	132306111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttgttttcaatcctcattCcatccagaccagtggctaac	9	14	5	13	0	2	1	2	0	0	1	5	1	5	1	4	1	1	2	4	1	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:132306111C>T	ENST00000331898.7	-	6	1384	c.806G>A	c.(805-807)gGa>gAa	p.G269E	OPCML_ENST00000541867.1_Missense_Mutation_p.G269E|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.G262E|OPCML_ENST00000374778.4_Missense_Mutation_p.G228E	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	269	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AATCCTCATTCCATCCAGACC	0.438													10	70					0	0	0	0	T	132306111	C	T	132306111	3	4	364	1	0	0	0	0	1	0	0	0	10945	855	30	2	239	2	OPCML	11	132306111	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	289864	132306111	2700405	1232	70161											
GLB1L2	89944	broad.mit.edu	37	chr11	134244922	134244922	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacagttcacggaaaccccCcacctgggcaggaaccagta	12	6	9	14	1	1	0	1	0	0	0	1	2	1	2	5	3	3	3	5	3	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:134244922C>T	ENST00000535456.2	+	19	2069	c.1881C>T	c.(1879-1881)ccC>ccT	p.P627P	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Silent_p.P627P|GLB1L2_ENST00000339772.7_Silent_p.P627P	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	627					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGGAAACCCCCCACCTGGGCA	0.627													7	16					0	0	0	0	T	134244922	C	T	134244922	2	4	364	1	0	0	0	0	0	0	0	1	6480	610	22	4		4	GLB1L2	11	134244922	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1938811	134244922	761594	1233	70162											
CACNA2D4	93589	broad.mit.edu	37	chr12	2016673	2016673	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcaacgttgggtctctctgGaagttctccacgaagacagc	9	10	11	11	2	4	1	1	0	3	1	6	3	4	2	1	2	2	2	1	2	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:2016673G>A	ENST00000382722.5	-	6	1076	c.714C>T	c.(712-714)ttC>ttT	p.F238F	CACNA2D4_ENST00000585732.1_Silent_p.F238F|CACNA2D4_ENST00000586184.1_Silent_p.F238F|CACNA2D4_ENST00000588077.1_Silent_p.F174F|CACNA2D4_ENST00000587995.1_Silent_p.F238F|CACNA2D4_ENST00000585708.1_Silent_p.F174F	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	238						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGTCTCTCTGGAAGTTCTCCA	0.453													4	23					0	0	0	0	A	2016673	G	A	2016673	2	1	364	1	0	0	0	0	0	0	0	1	2576	1165	41	2		2	CACNA2D4	12	2016673	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08		2016673	131835222	1234	70163											
CACNA1C	775	broad.mit.edu	37	chr12	2566793	2566793	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggcaaacgctctcggaggGaaaggggccggatttgatgt	9	7	18	7	3	1	1	0	1	1	0	2	4	1	4	1	7	1	2	1	7	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:2566793G>A	ENST00000399655.1	+	5	943	c.678G>A	c.(676-678)ggG>ggA	p.G226G	CACNA1C_ENST00000335762.5_Silent_p.G226G|CACNA1C_ENST00000399606.1_Silent_p.G226G|CACNA1C_ENST00000399595.1_Silent_p.G226G|CACNA1C_ENST00000480911.1_Silent_p.G226G|CACNA1C_ENST00000399603.1_Silent_p.G226G|CACNA1C_ENST00000399637.1_Silent_p.G226G|CACNA1C_ENST00000399629.1_Silent_p.G226G|CACNA1C_ENST00000399621.1_Silent_p.G226G|CACNA1C_ENST00000399649.1_Silent_p.G226G|CACNA1C_ENST00000399644.1_Silent_p.G226G|CACNA1C_ENST00000344100.3_Silent_p.G226G|CACNA1C_ENST00000406454.3_Silent_p.G226G|CACNA1C_ENST00000399597.1_Silent_p.G226G|CACNA1C_ENST00000399641.1_Silent_p.G226G|CACNA1C_ENST00000399591.1_Silent_p.G226G|CACNA1C_ENST00000327702.7_Silent_p.G226G|CACNA1C_ENST00000402845.3_Silent_p.G226G|CACNA1C_ENST00000347598.4_Silent_p.G226G|CACNA1C_ENST00000399601.1_Silent_p.G226G|CACNA1C_ENST00000399634.1_Silent_p.G226G|CACNA1C_ENST00000399638.1_Silent_p.G226G|CACNA1C_ENST00000399617.1_Silent_p.G226G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	226					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTCTCGGAGGGAAAGGGGCCG	0.557													39	120					0	0	0	0	A	2566793	G	A	2566793	2	1	364	1	0	0	0	0	0	0	0	1	2565	1161	41	2		2	CACNA1C	12	2566793	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	550120	2566793	131285102	1235	70164											
VWF	7450	broad.mit.edu	37	chr12	6122811	6122811	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caatagggaacactgtcactCctagagttagcaaagagaca	16	7	9	9	0	1	2	1	0	0	2	2	4	2	3	1	1	2	2	1	1	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6122811C>T	ENST00000261405.5	-	32	5710	c.5455_splice	c.e32-1	p.R1819_splice		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1819	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CACTGTCACTCCTAGAGTTAG	0.507													17	47					0	0	0	0	T	6122811	C	T	6122811	5	4	364	1	0	0	0	0	0	0	1	0	17342	869	30	2	3069	2	VWF	12	6122811	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3556018	6122811	127729084	1236	70165											
CD4	920	broad.mit.edu	37	chr12	6909313	6909313	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcaaggccacaatgaaccgGggagtcccttttaggcactt	10	8	12	11	1	0	1	0	1	0	0	1	2	1	2	3	5	1	2	3	5	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6909313G>A	ENST00000011653.4	+	2	267	c.9G>A	c.(7-9)cgG>cgA	p.R3R	CD4_ENST00000541982.1_Silent_p.R3R|CD4_ENST00000538827.1_Intron	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	3					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CAATGAACCGGGGAGTCCCTT	0.572													28	33					0	0	0	0	A	6909313	G	A	6909313	2	1	364	1	0	0	0	0	0	0	0	1	3043	1219	43	4		4	CD4	12	6909313	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	786502	6909313	126942582	1237	70166											
USP5	8078	broad.mit.edu	37	chr12	6965611	6965611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaccctgctcgaatccctcCctggtgaggcctggcccctc	5	8	9	19	1	0	1	0	1	0	0	4	2	2	1	6	3	2	1	6	3	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6965611C>T	ENST00000229268.8	+	5	633	c.581C>T	c.(580-582)cCc>cTc	p.P194L	USP5_ENST00000389231.5_Missense_Mutation_p.P194L	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	194					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CGAATCCCTCCCTGGTGAGGC	0.627													11	66					0	0	0	0	T	6965611	C	T	6965611	3	4	364	1	0	0	0	0	1	0	0	0	17177	623	22	4	599	4	USP5	12	6965611	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	56298	6965611	126886284	1238	70167											
USP5	8078	broad.mit.edu	37	chr12	6973918	6973918	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacgggctgtggactggatCttcagtcacattgacgacct	9	10	12	10	2	3	1	2	1	1	0	3	5	3	3	1	3	1	1	1	3	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6973918C>T	ENST00000229268.8	+	18	2329	c.2277C>T	c.(2275-2277)atC>atT	p.I759I	USP5_ENST00000389231.5_Silent_p.I736I	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	759	UBA 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TGGACTGGATCTTCAGTCACA	0.527													22	60					0	0	0	0	T	6973918	C	T	6973918	2	4	364	1	0	0	0	0	0	0	0	1	17177	903	32	2		2	USP5	12	6973918	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	8307	6973918	126877977	1239	70168											
C1S	716	broad.mit.edu	37	chr12	7171649	7171649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cattggtggttacttctgctCctgccccccggaatatttcc	5	14	8	14	1	1	0	0	0	1	0	3	1	3	1	5	3	3	2	5	3	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:7171649C>T	ENST00000406697.1	+	8	1098	c.470C>T	c.(469-471)tCc>tTc	p.S157F	C1S_ENST00000328916.3_Missense_Mutation_p.S157F|C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.S157F			P09871	C1S_HUMAN	complement component 1, s subcomponent	157	EGF-like; calcium-binding.				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)	TACTTCTGCTCCTGCCCCCCG	0.453													61	116					0	0	0	0	T	7171649	C	T	7171649	3	4	364	1	0	0	0	0	1	0	0	0	1993	855	30	2	484	2	C1S	12	7171649	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	197731	7171649	126680246	1240	70169											
CD163L1	283316	broad.mit.edu	37	chr12	7527338	7527338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccccatccactaggcGgagccgtttgtcctcttaga	6	11	10	14	2	1	1	0	0	1	1	4	2	4	2	5	2	1	2	5	2	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:7527338G>A	ENST00000313599.3	-	13	3166	c.3109C>T	c.(3109-3111)Cgc>Tgc	p.R1037C	CD163L1_ENST00000396630.1_Missense_Mutation_p.R1037C|CD163L1_ENST00000416109.2_Missense_Mutation_p.R1047C			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1037	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCACTAGGCGGAGCCGTTTG	0.517											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	41					0	0	0	0	A	7527338	G	A	7527338	3	1	364	1	0	0	0	0	1	0	0	0	2997	1116	39	1	1280	1	CD163L1	12	7527338	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	355689	7527338	126324557	1241	70170											
CD163	9332	broad.mit.edu	37	chr12	7647932	7647932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctaacagtctctgaatctCcacctcaactgtcccagcac	10	9	4	18	0	3	1	1	1	2	0	6	1	4	1	4	0	3	1	4	0	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:7647932C>T	ENST00000359156.4	-	6	1367	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	CD163_ENST00000541972.1_Missense_Mutation_p.E377K|CD163_ENST00000432237.2_Missense_Mutation_p.E389K|CD163_ENST00000396620.3_Missense_Mutation_p.E389K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	389	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.E389*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTCTGAATCTCCACCTCAACT	0.493													19	101					0	0	0	0	T	7647932	C	T	7647932	3	4	364	1	0	0	0	0	1	0	0	0	2996	864	30	2	2349	2	CD163	12	7647932	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	120594	7647932	126203963	1242	70171											
C3AR1	719	broad.mit.edu	37	chr12	8212050	8212050	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgttaacctagcagaaccCctagggagtgaatctgcaga	12	9	10	10	0	1	3	0	1	1	2	1	4	1	4	3	1	4	3	3	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:8212050C>T	ENST00000307637.4	-	2	935	c.732G>A	c.(730-732)agG>agA	p.R244R		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	244					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TAGCAGAACCCCTAGGGAGTG	0.418													18	76					0	0	0	0	T	8212050	C	T	8212050	2	4	364	1	0	0	0	0	0	0	0	1	2225	622	22	4		4	C3AR1	12	8212050	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	564118	8212050	125639845	1243	70172											
NECAP1	25977	broad.mit.edu	37	chr12	8244401	8244401	+	Missense_Mutation	SNP	G	G	A																															tggcattggcttcacagatcGgggagatgccttcgacttta																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:8244401G>A	ENST00000339754.5	+	4	416	c.338G>A	c.(337-339)cGg>cAg	p.R113Q		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	113					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TTCACAGATCGGGGAGATGCC	0.507													6	28					0	0	0	0	A	8244401	G	A	8244401	3	1	364	1	0	0	0	0	1	0	0	0	10377	1116	39	1	352	1	NECAP1	12	8244401	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	32351	8244401	125607494	1244	70173	913	2									
NECAP1	25977	broad.mit.edu	37	chr12	8244402	8244402	+	Silent	SNP	G	G	A																															ggcattggcttcacagatcgGggagatgccttcgactttaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:8244402G>A	ENST00000339754.5	+	4	417	c.339G>A	c.(337-339)cgG>cgA	p.R113R		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	113					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TCACAGATCGGGGAGATGCCT	0.502													6	28					0	0	0	0	A	8244402	G	A	8244402	2	1	364	1	0	0	0	0	0	0	0	1	10377	1219	43	4		4	NECAP1	12	8244402	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	8244402	125607493	1245	70174	913	2									
FAM90A1	55138	broad.mit.edu	37	chr12	8376723	8376723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccttttccccaaagttcGgtggaaccagggctgccttc	6	12	9	14	1	0	0	0	0	0	0	4	1	2	1	5	3	2	2	5	3	2	5	rs117679735	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:8376723G>C	ENST00000538603.1	-	5	770	c.212C>G	c.(211-213)cCg>cGg	p.P71R	FAM90A1_ENST00000307435.6_Missense_Mutation_p.P71R	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	71							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CCCAAAGTTCGGTGGAACCAG	0.547													26	184					0	0	0	0	C	8376723	G	C	8376723	3	2	364	1	0	0	0	0	1	0	0	0	5695	1116	39	3	1194	3	FAM90A1	12	8376723	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	132321	8376723	125475172	1246	70175											
STYK1	55359	broad.mit.edu	37	chr12	10772810	10772810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagctgcatacagttcaGgtaccaccaactctggtact	11	9	7	14	0	2	0	1	0	1	0	2	0	2	0	3	2	6	5	3	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:10772810G>A	ENST00000075503.3	-	11	1722	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	401						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						ATACAGTTCAGGTACCACCAA	0.517										HNSCC(73;0.22)			46	233					0	0	0	0	A	10772810	G	A	10772810	3	1	364	1	0	0	0	0	1	0	0	0	15449	1000	35	4	70	4	STYK1	12	10772810	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2396087	10772810	123079085	1247	70176											
STYK1	55359	broad.mit.edu	37	chr12	10774549	10774549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctaggatgctggtaggaggGacttcaggatacggtggtgc	8	10	17	6	1	2	0	1	0	1	0	2	4	2	4	0	7	3	2	0	7	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:10774549G>A	ENST00000075503.3	-	10	1510	c.990C>T	c.(988-990)gtC>gtT	p.V330V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	330	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TGGTAGGAGGGACTTCAGGAT	0.423										HNSCC(73;0.22)			14	109					0	0	0	0	A	10774549	G	A	10774549	2	1	364	1	0	0	0	0	0	0	0	1	15449	1161	41	2		2	STYK1	12	10774549	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1739	10774549	123077346	1248	70177											
TAS2R13	50838	broad.mit.edu	37	chr12	11061286	11061286	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctggagatgtttctgcagGgagaaaattaacaggagaaa	15	10	12	4	0	2	3	0	0	2	3	2	6	2	3	0	3	2	2	0	3	4	3	rs140528790		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11061286G>A	ENST00000390677.2	-	1	875	c.612C>T	c.(610-612)tcC>tcT	p.S204S	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	204					sensory perception of taste	integral to membrane	taste receptor activity	p.S204S(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GTTTCTGCAGGGAGAAAATTA	0.398													31	69					0	0	0	0	A	11061286	G	A	11061286	2	1	364	1	0	0	0	0	0	0	0	1	15658	1219	43	4		4	TAS2R13	12	11061286	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	286737	11061286	122790609	1249	70178											
PRB3	5544	broad.mit.edu	37	chr12	11420677	11420677	+	RNA	SNP	C	C	T																															gaccttgggactggtttcctCcttgtgggggtggtccttct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11420677C>T	ENST00000381842.3	-	0	543				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGG	0.647													41	266					0	0	0	0	T	11420677	C	T	11420677	1	4	364	0	1	0	0	0	0	0	0	0	12524	855	30	2		2	PRB3	12	11420677	RNA	SNP	C	TCGA-D6-6516-01A-11D-1870-08	359391	11420677	122431218	1250	70179	914	2									
PRB3	5544	broad.mit.edu	37	chr12	11420678	11420678	+	RNA	SNP	C	C	T																															accttgggactggtttcctcCttgtgggggtggtccttctg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11420678C>T	ENST00000381842.3	-	0	542				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGTTTCCTCCTTGTGGGGGT	0.652													39	263					0	0	0	0	T	11420678	C	T	11420678	1	4	364	0	1	0	0	0	0	0	0	0	12524	690	24	4		4	PRB3	12	11420678	RNA	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	11420678	122431217	1251	70180	914	2									
PRB4	5545	broad.mit.edu	37	chr12	11461790	11461790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttggggctggtttcctcCttgtgggcgtcgtccttctg	1	15	14	11	3	1	0	0	0	1	0	5	0	4	0	3	4	0	3	3	4	0	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11461790C>T	ENST00000279575.1	-	3	160	c.127G>A	c.(127-129)Gga>Aga	p.G43R	PRB4_ENST00000535904.1_Missense_Mutation_p.G43R|PRB4_ENST00000445719.2_Missense_Mutation_p.G43R	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	43	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGTTTCCTCCTTGTGGGCGT	0.567										HNSCC(22;0.051)			56	392					0	0	0	0	T	11461790	C	T	11461790	3	4	364	1	0	0	0	0	1	0	0	0	12525	690	24	4	620	4	PRB4	12	11461790	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	41112	11461790	122390105	1252	70181											
PRB2	653247	broad.mit.edu	37	chr12	11546792	11546792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccttgtggctttcctggagGaggtgggggaccttgaggct	4	12	17	8	0	0	1	0	1	0	0	2	4	2	4	3	7	0	2	3	7	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11546792G>A	ENST00000389362.4	-	3	255	c.220C>T	c.(220-222)Cct>Tct	p.P74S	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTCCTGGAGGAGGTGGGGGA	0.602													71	362					0	0	0	0	A	11546792	G	A	11546792	3	1	364	1	0	0	0	0	1	0	0	0	12523	1174	41	2	1034	2	PRB2	12	11546792	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	85002	11546792	122305103	1253	70182											
KIAA1467	57613	broad.mit.edu	37	chr12	13224269	13224269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccacctcagcagttacttCagaccagaagtctgtcttcc	10	10	7	14	0	4	2	2	0	2	2	5	2	5	2	4	0	3	2	4	0	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:13224269C>T	ENST00000197268.8	+	10	1583	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	488						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)		GCAGTTACTTCAGACCAGAAG	0.517													62	54					0	0	0	0	T	13224269	C	T	13224269	3	4	364	1	0	0	0	0	1	0	0	0	8286	838	29	2	1501	2	KIAA1467	12	13224269	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1677477	13224269	120627626	1254	70183											
GRIN2B	2904	broad.mit.edu	37	chr12	13716871	13716871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctcgatctcgtcaaactCcctgcgggacttggccgagg	7	8	12	14	4	2	0	1	0	1	0	5	3	3	1	2	3	3	1	2	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:13716871C>T	ENST00000279593.3	-	13	3510	c.3301G>A	c.(3301-3303)Gag>Aag	p.E1101K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1101					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCGTCAAACTCCCTGCGGGAC	0.612													35	33					0	0	0	0	T	13716871	C	T	13716871	3	4	364	1	0	0	0	0	1	0	0	0	6830	864	30	2	1157	2	GRIN2B	12	13716871	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	492602	13716871	120135024	1255	70184											
GRIN2B	2904	broad.mit.edu	37	chr12	13768162	13768162	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatcgttcctcattgatggTgagtgagcccactgccatgt	7	12	11	11	2	1	3	1	3	0	0	3	4	2	3	3	1	2	1	3	1	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:13768162T>G	ENST00000279593.3	-	7	1749	c.1540A>C	c.(1540-1542)Acc>Ccc	p.T514P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	514					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCATTGATGGTGAGTGAGCCC	0.532													10	66					0	0	0	0	G	13768162	T	G	13768162	3	3	364	1	0	0	0	0	1	0	0	0	6830	1696	59	5	2942	5	GRIN2B	12	13768162	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	51291	13768162	120083733	1256	70185											
EPS8	2059	broad.mit.edu	37	chr12	15834210	15834210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catgttctctgtccgtctggGaaaaggtaggtgatgatccg	8	12	13	8	2	2	2	0	2	2	0	5	3	4	3	2	3	0	2	2	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:15834210G>A	ENST00000281172.5	-	3	522	c.86C>T	c.(85-87)tCc>tTc	p.S29F	EPS8_ENST00000543523.1_Missense_Mutation_p.S29F|EPS8_ENST00000543612.1_Missense_Mutation_p.S29F	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	29					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GTCCGTCTGGGAAAAGGTAGG	0.313													25	123					0	0	0	0	A	15834210	G	A	15834210	3	1	364	1	0	0	0	0	1	0	0	0	5232	1174	41	2	2458	2	EPS8	12	15834210	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2066048	15834210	118017685	1257	70186											
PLCZ1	89869	broad.mit.edu	37	chr12	18876368	18876368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaagaattttccggttttCagaatatgtgttgaaaatct	14	16	7	4	1	2	3	1	1	1	2	3	3	3	3	1	1	0	2	1	1	7	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:18876368C>T	ENST00000266505.7	-	4	507	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	PLCZ1_ENST00000447925.2_Missense_Mutation_p.E80K|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	82					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTCCGGTTTTCAGAATATGTG	0.343													12	67					0	0	0	0	T	18876368	C	T	18876368	3	4	364	1	0	0	0	0	1	0	0	0	12116	835	29	2	1630	2	PLCZ1	12	18876368	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3042158	18876368	114975527	1258	70187											
PLEKHA5	54477	broad.mit.edu	37	chr12	19427805	19427805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaatcgccccaatacaGggcccttatacacagaggcc	12	6	10	13	1	0	1	0	0	0	1	1	2	0	2	4	3	2	0	4	3	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:19427805G>A	ENST00000538714.1	+	10	1187	c.1183G>A	c.(1183-1185)Ggg>Agg	p.G395R	PLEKHA5_ENST00000317589.4_Missense_Mutation_p.G395R|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.G395R|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.G395R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.G153R|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.G395R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.G287R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.G287R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.G395R|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.G401R	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	395							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCCCAATACAGGGCCCTTATA	0.458													17	71					0	0	0	0	A	19427805	G	A	19427805	3	1	364	1	0	0	0	0	1	0	0	0	12131	1000	35	4	1221	4	PLEKHA5	12	19427805	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	551437	19427805	114424090	1259	70188											
PDE3A	5139	broad.mit.edu	37	chr12	20766428	20766428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcatgggcgaggcccacGgcctcattaccgacctcctg	6	7	11	17	4	2	0	2	0	0	0	3	2	3	0	6	3	1	0	6	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:20766428G>A	ENST00000359062.3	+	3	1103	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	355				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CGAGGCCCACGGCCTCATTAC	0.537													10	91					0	0	0	0	A	20766428	G	A	20766428	3	1	364	1	0	0	0	0	1	0	0	0	11708	1116	39	1	1073	1	PDE3A	12	20766428	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1338623	20766428	113085467	1260	70189											
SLCO1B3	28234	broad.mit.edu	37	chr12	21015719	21015719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgcaataggaatgattggtCcagtcattggctttgcactg	10	13	11	7	0	1	1	1	1	0	0	2	2	2	2	1	3	2	3	1	3	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21015719C>T	ENST00000381545.3	+	8	877	c.658C>T	c.(658-660)Cca>Tca	p.P220S	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P220S|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.P220S|LST3_ENST00000540229.1_Missense_Mutation_p.P220S|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	220					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AATGATTGGTCCAGTCATTGG	0.333													9	86					0	0	0	0	T	21015719	C	T	21015719	3	4	364	1	0	0	0	0	1	0	0	0	14812	855	30	2	680	2	SLCO1B3	12	21015719	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	249291	21015719	112836176	1261	70190											
SLCO1B1	10599	broad.mit.edu	37	chr12	21325692	21325692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatttgagatatcctcttctCttgttggttttattgacgga	7	19	9	6	1	2	2	0	2	2	1	4	5	3	3	1	2	0	2	1	2	2	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21325692C>T	ENST00000256958.2	+	3	289	c.193C>T	c.(193-195)Ctt>Ttt	p.L65F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	65					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.L65I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATCCTCTTCTCTTGTTGGTTT	0.323													26	38					0	0	0	0	T	21325692	C	T	21325692	3	4	364	1	0	0	0	0	1	0	0	0	14811	913	32	2	199	2	SLCO1B1	12	21325692	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	309973	21325692	112526203	1262	70191											
SLCO1A2	6579	broad.mit.edu	37	chr12	21453381	21453381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtctctagtccttcctttgGaagtgtgttgggcaaaaaga	10	13	11	7	0	1	1	0	0	1	1	4	2	3	2	2	2	0	2	2	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21453381G>A	ENST00000307378.6	-	9	1531	c.811C>T	c.(811-813)Cca>Tca	p.P271S	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.P139S|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.P271S|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.P139S|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.P269S	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	271					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CCTTCCTTTGGAAGTGTGTTG	0.403													10	61					0	0	0	0	A	21453381	G	A	21453381	3	1	364	1	0	0	0	0	1	0	0	0	14810	1174	41	2	1233	2	SLCO1A2	12	21453381	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	127689	21453381	112398514	1263	70192											
ABCC9	10060	broad.mit.edu	37	chr12	21968824	21968824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgttctggaacttgagaaGgatctggaggatgggatggg	11	10	17	3	0	2	1	0	1	2	1	2	7	2	6	0	6	1	1	0	6	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21968824G>A	ENST00000261200.4	-	32	3895	c.3896C>T	c.(3895-3897)cCt>cTt	p.P1299L	ABCC9_ENST00000345162.2_Missense_Mutation_p.P1263L|ABCC9_ENST00000261201.4_Missense_Mutation_p.P1299L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1299					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AACTTGAGAAGGATCTGGAGG	0.358													12	52					0	0	0	0	A	21968824	G	A	21968824	3	1	364	1	0	0	0	0	1	0	0	0	59	1000	35	4	923	4	ABCC9	12	21968824	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	515443	21968824	111883071	1264	70193											
ABCC9	10060	broad.mit.edu	37	chr12	22005385	22005385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcaggaatttcaaaatccCctcctgcattaaatgatcac	13	12	5	11	0	2	1	2	1	0	0	4	2	4	2	3	1	2	2	3	1	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:22005385C>T	ENST00000261200.4	-	21	2559	c.2560G>A	c.(2560-2562)Ggg>Agg	p.G854R	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G818R|ABCC9_ENST00000261201.4_Missense_Mutation_p.G854R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	854	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCAAAATCCCCTCCTGCATT	0.413													41	40					0	0	0	0	T	22005385	C	T	22005385	3	4	364	1	0	0	0	0	1	0	0	0	59	623	22	4	2303	4	ABCC9	12	22005385	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	36561	22005385	111846510	1265	70194											
ITPR2	3709	broad.mit.edu	37	chr12	26784938	26784938	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatggagcctctactgagtAccatctgggtcatcatctct	9	12	9	11	0	5	2	2	1	3	1	6	3	5	3	2	2	3	1	2	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:26784938A>C	ENST00000381340.3	-	22	3211	c.2795T>G	c.(2794-2796)gTa>gGa	p.V932G	RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	932					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTACTGAGTACCATCTGGGT	0.552													17	119					0	0	0	0	C	26784938	A	C	26784938	3	2	364	1	0	0	0	0	1	0	0	0	7974	391	14	5	5454	5	ITPR2	12	26784938	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	4779553	26784938	107066957	1266	70195											
KIF21A	55605	broad.mit.edu	37	chr12	39696913	39696913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgggactcacagtcccaaGagctccttctgtaacatcaa	11	9	9	12	0	3	1	2	0	1	1	5	2	5	2	2	2	2	2	2	2	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:39696913G>A	ENST00000395670.3	-	35	5007	c.4588C>T	c.(4588-4590)Ctt>Ttt	p.L1530F	KIF21A_ENST00000544797.2_Missense_Mutation_p.L1492F|KIF21A_ENST00000361961.3_Missense_Mutation_p.L1516F|KIF21A_ENST00000361418.5_Missense_Mutation_p.L1529F|KIF21A_ENST00000541463.2_Missense_Mutation_p.L1476F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1529					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ACAGTCCCAAGAGCTCCTTCT	0.388													21	48					0	0	0	0	A	39696913	G	A	39696913	3	1	364	1	0	0	0	0	1	0	0	0	8339	942	33	2	451	2	KIF21A	12	39696913	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	12911975	39696913	94154982	1267	70196											
KIF21A	55605	broad.mit.edu	37	chr12	39726014	39726014	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcttttttaaaaattacaaAcctttgcttcttccatctgc	10	17	3	11	1	2	0	0	0	2	0	3	0	3	0	2	0	4	2	2	0	5	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:39726014A>G	ENST00000395670.3	-	21	3471		c.e21+1		KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAAATTACAAACCTTTGCTTC	0.308													41	77					0	0	0	0	G	39726014	A	G	39726014	5	3	364	1	0	0	0	0	0	0	1	0	8339	57	2	5	2043	5	KIF21A	12	39726014	Splice_Site	SNP	A	TCGA-D6-6516-01A-11D-1870-08	29101	39726014	94125881	1268	70197											
LRRK2	120892	broad.mit.edu	37	chr12	40714868	40714868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcctgtgatagagcttcCccattgtgagaactctgaaa	11	10	10	10	0	1	4	0	3	1	2	2	5	2	4	3	1	2	1	3	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:40714868C>T	ENST00000298910.7	+	35	5106	c.5048C>T	c.(5047-5049)cCc>cTc	p.P1683L		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1683					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATAGAGCTTCCCCATTGTGAG	0.383													25	128					0	0	0	0	T	40714868	C	T	40714868	3	4	364	1	0	0	0	0	1	0	0	0	9097	623	22	4	5186	4	LRRK2	12	40714868	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	988854	40714868	93137027	1269	70198											
LRRK2	120892	broad.mit.edu	37	chr12	40758754	40758754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctttggataggaactggagGaggccatattttactcctgg	9	13	12	7	0	1	0	0	0	1	0	2	4	2	4	2	6	2	0	2	6	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:40758754G>A	ENST00000298910.7	+	49	7350	c.7292G>A	c.(7291-7293)gGa>gAa	p.G2431E		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2431					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGAACTGGAGGAGGCCATATT	0.408											OREG0003828	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	74					0	0	0	0	A	40758754	G	A	40758754	3	1	364	1	0	0	0	0	1	0	0	0	9097	1174	41	2	7486	2	LRRK2	12	40758754	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	43886	40758754	93093141	1270	70199											
PDZRN4	29951	broad.mit.edu	37	chr12	41967305	41967305	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaaagagacccgtgcgagaCcgaatcctgaaggaacgtgc	14	4	12	11	4	0	3	0	1	0	2	1	7	1	4	3	1	3	0	3	1	4	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:41967305C>T	ENST00000298919.7	+	10	2332	c.1944C>T	c.(1942-1944)gaC>gaT	p.D648D	PDZRN4_ENST00000402685.2_Silent_p.D908D|PDZRN4_ENST00000539469.2_Silent_p.D650D			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	908							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CCGTGCGAGACCGAATCCTGA	0.517													11	73					0	0	0	0	T	41967305	C	T	41967305	2	4	364	1	0	0	0	0	0	0	0	1	11781	506	18	4		4	PDZRN4	12	41967305	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1208551	41967305	91884590	1271	70200											
PUS7L	83448	broad.mit.edu	37	chr12	44148206	44148206	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacgtttgtgtgctttttcCcgaaatcttactgttaccac	7	16	6	12	2	1	0	0	0	1	0	2	1	2	0	3	0	3	3	3	0	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:44148206C>T	ENST00000416848.2	-	2	1331	c.843G>A	c.(841-843)cgG>cgA	p.R281R	PUS7L_ENST00000344862.5_Silent_p.R281R|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Silent_p.R281R|PUS7L_ENST00000553166.1_Silent_p.R281R	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	281					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTGCTTTTTCCCGAAATCTTA	0.353													71	142					0	0	0	0	T	44148206	C	T	44148206	2	4	364	1	0	0	0	0	0	0	0	1	12916	610	22	4		4	PUS7L	12	44148206	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2180901	44148206	89703689	1272	70201											
SLC38A2	54407	broad.mit.edu	37	chr12	46761092	46761092	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagatgaacagaatacaGggaaaatattgacacaaatg	21	6	10	4	0	0	4	0	2	0	2	0	6	0	5	0	2	2	0	0	2	8	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:46761092G>A	ENST00000256689.5	-	5	790	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	116					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ACAGAATACAGGGAAAATATT	0.333													26	182					0	0	0	0	A	46761092	G	A	46761092	2	1	364	1	0	0	0	0	0	0	0	1	14692	991	35	4		4	SLC38A2	12	46761092	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2612886	46761092	87090803	1273	70202											
SLC38A4	55089	broad.mit.edu	37	chr12	47181734	47181734	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgttggccatggcataGgacaagcccaggatcccact	9	8	11	13	0	0	0	0	0	0	0	1	2	1	2	4	4	1	2	4	4	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:47181734G>A	ENST00000447411.1	-	4	497	c.291C>T	c.(289-291)tcC>tcT	p.S97S	SLC38A4_ENST00000266579.4_Silent_p.S97S	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	97					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCATGGCATAGGACAAGCCCA	0.428													34	57					0	0	0	0	A	47181734	G	A	47181734	2	1	364	1	0	0	0	0	0	0	0	1	14694	987	35	4		4	SLC38A4	12	47181734	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	420642	47181734	86670161	1274	70203											
COL2A1	1280	broad.mit.edu	37	chr12	48383559	48383559	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttaccggaggccctgcgggGcctggctgaccatcgttgcc	4	8	14	15	3	0	1	0	1	0	0	1	2	0	2	5	5	3	2	5	5	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:48383559G>A	ENST00000380518.3	-	17	1217	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	COL2A1_ENST00000337299.6_Silent_p.G282G	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	351	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GCCCTGCGGGGCCTGGCTGAC	0.597													29	76					0	0	0	0	A	48383559	G	A	48383559	2	1	364	1	0	0	0	0	0	0	0	1	3717	1190	42	4		4	COL2A1	12	48383559	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1201825	48383559	85468336	1275	70204											
ASB8	140461	broad.mit.edu	37	chr12	48543601	48543601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgacagaggccccgctctCtaggagagcccgcacacact	10	6	10	15	2	1	3	0	1	1	2	2	4	1	3	3	2	1	2	3	2	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:48543601C>T	ENST00000317697.3	-	4	584	c.415G>A	c.(415-417)Gag>Aag	p.E139K	ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.E139K|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000539528.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	139					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GCCCCGCTCTCTAGGAGAGCC	0.527													14	80					0	0	0	0	T	48543601	C	T	48543601	3	4	364	1	0	0	0	0	1	0	0	0	1033	922	32	2	455	2	ASB8	12	48543601	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	160042	48543601	85308294	1276	70205											
CCDC65	85478	broad.mit.edu	37	chr12	49312668	49312668	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgccaccctcaaggccctGagaaagattgttgataaggt	13	9	10	9	0	1	3	1	2	0	2	1	4	1	3	3	2	1	1	3	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49312668G>A	ENST00000266984.5	+	6	1235	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	CCDC65_ENST00000320516.4_Silent_p.L336L|ARF3_ENST00000398092.4_Intron			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	336										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCAAGGCCCTGAGAAAGATTG	0.488													10	39					0	0	0	0	A	49312668	G	A	49312668	2	1	364	1	0	0	0	0	0	0	0	1	2864	1277	45	2		2	CCDC65	12	49312668	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	769067	49312668	84539227	1277	70206											
TUBA1B	10376	broad.mit.edu	37	chr12	49523492	49523492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagcctggccaacgtggatgGagatgcactcacgctgcggg	8	6	15	12	3	1	1	1	0	0	1	1	3	1	2	2	4	4	2	2	4	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49523492G>A	ENST00000336023.5	-	2	111	c.17C>T	c.(16-18)tCc>tTc	p.S6F	RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	6					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						AACGTGGATGGAGATGCACTC	0.483													13	62					0	0	0	0	A	49523492	G	A	49523492	3	1	364	1	0	0	0	0	1	0	0	0	16840	1174	41	2	1350	2	TUBA1B	12	49523492	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	210824	49523492	84328403	1278	70207											
TROAP	10024	broad.mit.edu	37	chr12	49719907	49719907	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccactcgccccagtttcCaggagctaagaagggagaca	11	7	10	13	1	0	2	0	0	0	2	3	4	2	3	4	2	1	2	4	2	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49719907C>T	ENST00000551245.1	+	6	793	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	TROAP_ENST00000257909.3_Nonsense_Mutation_p.Q228*			Q12815	TROAP_HUMAN	trophinin associated protein	228					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCCCAGTTTCCAGGAGCTAAG	0.527													31	131					0	0	0	0	T	49719907	C	T	49719907	4	4	364	1	0	0	0	0	0	1	0	0	16670	595	21	4	802	4	TROAP	12	49719907	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	196415	49719907	84131988	1279	70208											
DNAJC22	79962	broad.mit.edu	37	chr12	49743028	49743028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctggtggctgctgttGgcaaccagacctcagacttt	6	13	11	11	0	2	2	1	0	1	2	2	2	2	2	2	3	3	5	2	3	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49743028G>A	ENST00000549441.2	+	3	1577	c.373G>A	c.(373-375)Ggc>Agc	p.G125S	DNAJC22_ENST00000395069.3_Missense_Mutation_p.G125S			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	125					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GGCTGCTGTTGGCAACCAGAC	0.527													28	168					0	0	0	0	A	49743028	G	A	49743028	3	1	364	1	0	0	0	0	1	0	0	0	4677	1348	47	4	375	4	DNAJC22	12	49743028	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	23121	49743028	84108867	1280	70209											
NCKAP5L	57701	broad.mit.edu	37	chr12	50189930	50189930	+	Silent	SNP	G	G	A																															ggggatggaggtggctctggGgaaggccccctaaaggtgct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:50189930G>A	ENST00000335999.6	-	8	1914	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	567	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GTGGCTCTGGGGAAGGCCCCC	0.622													10	34					0	0	0	0	A	50189930	G	A	50189930	2	1	364	1	0	0	0	0	0	0	0	1	10294	1219	43	4		4	NCKAP5L	12	50189930	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	446902	50189930	83661965	1281	70210	915	2									
NCKAP5L	57701	broad.mit.edu	37	chr12	50189931	50189931	+	Missense_Mutation	SNP	G	G	A																															gggatggaggtggctctgggGaaggccccctaaaggtgctc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:50189931G>A	ENST00000335999.6	-	8	1913	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	567	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TGGCTCTGGGGAAGGCCCCCT	0.622													10	34					0	0	0	0	A	50189931	G	A	50189931	3	1	364	1	0	0	0	0	1	0	0	0	10294	1174	41	2	2316	2	NCKAP5L	12	50189931	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	50189931	83661964	1282	70211	915	2									
RACGAP1	29127	broad.mit.edu	37	chr12	50400385	50400385	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcctctgccactttttacgGaaatcctcaaagtccttcgc	8	13	6	14	2	2	0	1	0	1	0	6	1	5	1	4	1	2	0	4	1	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:50400385G>A	ENST00000434422.1	-	4	421	c.120C>T	c.(118-120)ttC>ttT	p.F40F	RACGAP1_ENST00000547905.1_Silent_p.F40F|RACGAP1_ENST00000427314.2_Silent_p.F40F|RACGAP1_ENST00000551016.1_Silent_p.F40F|RACGAP1_ENST00000454520.2_Silent_p.F40F|RACGAP1_ENST00000312377.5_Silent_p.F40F			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	40					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						ACTTTTTACGGAAATCCTCAA	0.423													23	31					0	0	0	0	A	50400385	G	A	50400385	2	1	364	1	0	0	0	0	0	0	0	1	13059	1165	41	2		2	RACGAP1	12	50400385	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	210454	50400385	83451510	1283	70212											
SMARCD1	6602	broad.mit.edu	37	chr12	50483706	50483706	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaggagaccgatggctttCaggtgaagcggccgggagac	9	5	16	11	3	1	3	1	1	0	2	1	6	1	3	3	5	1	1	3	5	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:50483706C>T	ENST00000394963.4	+	7	1209	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	SMARCD1_ENST00000381513.4_Nonsense_Mutation_p.Q271*|SMARCD1_ENST00000548573.1_Nonsense_Mutation_p.Q69*	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	271	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CGATGGCTTTCAGGTGAAGCG	0.582													13	58					0	0	0	0	T	50483706	C	T	50483706	4	4	364	1	0	0	0	0	0	1	0	0	14865	827	29	2	837	2	SMARCD1	12	50483706	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	83321	50483706	83368189	1284	70213											
KRT7	3855	broad.mit.edu	37	chr12	52639266	52639266	+	Missense_Mutation	SNP	C	C	T																															ggcgctcaaggatgctcgtgCcaagcaggaggagctggaag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:52639266C>T	ENST00000331817.5	+	7	1238	c.1055C>T	c.(1054-1056)gCc>gTc	p.A352V	RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	352	Coil 2.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GATGCTCGTGCCAAGCAGGAG	0.652													8	59					0	0	0	0	T	52639266	C	T	52639266	3	4	364	1	0	0	0	0	1	0	0	0	8535	739	26	4	1081	4	KRT7	12	52639266	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2155560	52639266	81212629	1285	70214	916	2									
KRT7	3855	broad.mit.edu	37	chr12	52639267	52639267	+	Silent	SNP	C	C	T																															gcgctcaaggatgctcgtgcCaagcaggaggagctggaagc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:52639267C>T	ENST00000331817.5	+	7	1239	c.1056C>T	c.(1054-1056)gcC>gcT	p.A352A	RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	352	Coil 2.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		ATGCTCGTGCCAAGCAGGAGG	0.652													8	62					0	0	0	0	T	52639267	C	T	52639267	2	4	364	1	0	0	0	0	0	0	0	1	8535	581	21	4		4	KRT7	12	52639267	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	52639267	81212628	1286	70215	916	2									
KRT3	3850	broad.mit.edu	37	chr12	53187989	53187989	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtccaggtagctccgcaGgtagttgatgtgattctcaa	8	13	12	8	1	1	2	1	2	1	0	4	2	3	2	2	2	1	6	2	2	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:53187989G>A	ENST00000417996.2	-	2	846	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	KRT3_ENST00000309505.3_Silent_p.L258L	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	258	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TAGCTCCGCAGGTAGTTGATG	0.532													25	174					0	0	0	0	A	53187989	G	A	53187989	2	1	364	1	0	0	0	0	0	0	0	1	8518	991	35	4		4	KRT3	12	53187989	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	548722	53187989	80663906	1287	70216											
ITGB7	3695	broad.mit.edu	37	chr12	53589185	53589185	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccatgatgagctgtacCacgttgctggagtcctcact	8	11	10	12	1	1	2	1	2	0	0	3	3	3	3	3	1	3	5	3	1	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:53589185C>T	ENST00000267082.5	-	9	1365	c.1134G>A	c.(1132-1134)gtG>gtA	p.V378V	ITGB7_ENST00000338737.4_Silent_p.V378V|ITGB7_ENST00000550743.2_Silent_p.V378V|ITGB7_ENST00000422257.3_Silent_p.V378V	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	378	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAGCTGTACCACGTTGCTGG	0.552													11	74					0	0	0	0	T	53589185	C	T	53589185	2	4	364	1	0	0	0	0	0	0	0	1	7953	581	21	4		4	ITGB7	12	53589185	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	401196	53589185	80262710	1288	70217											
GPR84	53831	broad.mit.edu	37	chr12	54757158	54757158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagactacaggtaccaggaTataaataggccagaggggag	15	5	14	7	0	0	2	0	0	0	2	0	4	0	4	2	5	2	2	2	5	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54757158T>C	ENST00000551809.1	-	1	1113	c.478A>G	c.(478-480)Atc>Gtc	p.I160V	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.I160V			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	160						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GGTACCAGGATATAAATAGGC	0.567													3	31					0	0	0	0	C	54757158	T	C	54757158	3	2	364	1	0	0	0	0	1	0	0	0	6763	1406	49	5	716	5	GPR84	12	54757158	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1167973	54757158	79094737	1289	70218											
GTSF1	121355	broad.mit.edu	37	chr12	54857043	54857043	+	Silent	SNP	G	G	A																															acctggtggcgagcattgaaGggacaagtagccaatttgct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54857043G>A	ENST00000552397.1	-	4	1052	c.156C>T	c.(154-156)ccC>ccT	p.P52P	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000305879.5_Silent_p.P52P|GTSF1_ENST00000552395.1_5'UTR			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	52							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				GAGCATTGAAGGGACAAGTAG	0.423													13	89					0	0	0	0	A	54857043	G	A	54857043	2	1	364	1	0	0	0	0	0	0	0	1	6936	987	35	4		4	GTSF1	12	54857043	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	99885	54857043	78994852	1290	70219	917	2									
GTSF1	121355	broad.mit.edu	37	chr12	54857044	54857044	+	Missense_Mutation	SNP	G	G	A																															cctggtggcgagcattgaagGgacaagtagccaatttgctt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54857044G>A	ENST00000552397.1	-	4	1051	c.155C>T	c.(154-156)cCc>cTc	p.P52L	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.P52L|GTSF1_ENST00000552395.1_5'UTR			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	52							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				AGCATTGAAGGGACAAGTAGC	0.428													12	89					0	0	0	0	A	54857044	G	A	54857044	3	1	364	1	0	0	0	0	1	0	0	0	6936	1232	43	4	368	4	GTSF1	12	54857044	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	54857044	78994851	1291	70220	917	2									
NCKAP1L	3071	broad.mit.edu	37	chr12	54936457	54936457	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgggaggtgtctcgggccttCcacctaaactgaatgcctgc	7	9	12	13	2	1	1	0	1	1	0	3	2	2	2	4	3	3	0	4	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54936457C>T	ENST00000293373.6	+	31	3451	c.3372C>T	c.(3370-3372)ttC>ttT	p.F1124F	NCKAP1L_ENST00000545638.2_Silent_p.F1074F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1124					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTCGGGCCTTCCACCTAAACT	0.557													13	81					0	0	0	0	T	54936457	C	T	54936457	2	4	364	1	0	0	0	0	0	0	0	1	10292	854	30	2		2	NCKAP1L	12	54936457	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	79413	54936457	78915438	1292	70221											
PDE1B	5153	broad.mit.edu	37	chr12	54969816	54969816	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccacattctctgtgctGactgacgtggcagagaagag	10	8	13	10	1	1	4	0	2	1	2	2	6	1	4	1	1	2	2	1	1	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54969816G>T	ENST00000243052.3	+	13	1744	c.1308G>T	c.(1306-1308)ctG>ctT	p.L436L	PDE1B_ENST00000538346.1_Silent_p.L395L|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000550620.1_Silent_p.L416L|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	436	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TCTCTGTGCTGACTGACGTGG	0.542													28	111					1.55811e-20	1.6185e-20	1	0	T	54969816	G	T	54969816	2	4	364	1	0	0	0	0	0	0	0	1	11705	1277	45	2		2	PDE1B	12	54969816	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	33359	54969816	78882079	1293	70222											
PPP1R1A	5502	broad.mit.edu	37	chr12	54971294	54971294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaagtgtgggtggagcaggGaaatcctcccacgctcttct	9	9	12	11	1	2	0	0	0	2	0	4	2	4	2	2	3	1	2	2	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54971294G>A	ENST00000547431.1	-	6	367	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	PDE1B_ENST00000538346.1_Intron|PDE1B_ENST00000550620.1_Intron|PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000243052.3_Intron			Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	0					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						GTGGAGCAGGGAAATCCTCCC	0.552													53	76					0	0	0	0	A	54971294	G	A	54971294	3	1	364	1	0	0	0	0	1	0	0	0	12443	1189	41	2		2	PPP1R1A	12	54971294	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1478	54971294	78880601	1294	70223											
OR6C6	283365	broad.mit.edu	37	chr12	55688295	55688295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggagacaacaatcatgtggGaagtacaggtggaaaatgct	15	8	13	5	0	1	1	1	0	0	1	1	4	1	3	0	4	3	2	0	4	6	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:55688295G>A	ENST00000358433.2	-	1	721	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATCATGTGGGAAGTACAGGT	0.378													13	64					0	0	0	0	A	55688295	G	A	55688295	3	1	364	1	0	0	0	0	1	0	0	0	11265	1174	41	2	224	2	OR6C6	12	55688295	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	717001	55688295	78163600	1295	70224											
OR6C2	341416	broad.mit.edu	37	chr12	55846439	55846439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tattagttctctgctgttggGtggctggcttgatgatcatt	5	18	12	6	0	2	2	1	2	1	0	3	2	2	2	0	3	1	5	0	3	2	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:55846439G>A	ENST00000322678.1	+	1	442	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTGCTGTTGGGTGGCTGGCTT	0.473													54	92					0	0	0	0	A	55846439	G	A	55846439	3	1	364	1	0	0	0	0	1	0	0	0	11262	1261	44	4	444	4	OR6C2	12	55846439	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	158144	55846439	78005456	1296	70225											
OR10P1	121130	broad.mit.edu	37	chr12	56031407	56031407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcttctccacctgctcctcCcatctgctcgtggtctctct	2	15	6	18	1	5	0	0	0	5	0	10	0	7	0	4	1	2	2	4	1	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56031407C>T	ENST00000309675.2	+	1	764	c.732C>T	c.(730-732)tcC>tcT	p.S244S		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTGCTCCTCCCATCTGCTCG	0.587													21	120					0	0	0	0	T	56031407	C	T	56031407	2	4	364	1	0	0	0	0	0	0	0	1	10986	610	22	4		4	OR10P1	12	56031407	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	184968	56031407	77820488	1297	70226											
METTL7B	196410	broad.mit.edu	37	chr12	56077597	56077597	+	Splice_Site	SNP	G	G	A																															aactctctcatccctcccagGgaggtgtgctctttttctgg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56077597G>A	ENST00000394252.3	+	2	708	c.498_splice	c.e2-1	p.G167_splice		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	167							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						TCCCTCCCAGGGAGGTGTGCT	0.527													11	77					0	0	0	0	A	56077597	G	A	56077597	5	1	364	1	0	0	0	0	0	0	1	0	9575	1246	43	4	505	4	METTL7B	12	56077597	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	46190	56077597	77774298	1298	70227	918	2									
METTL7B	196410	broad.mit.edu	37	chr12	56077598	56077598	+	Splice_Site	SNP	G	G	A																															actctctcatccctcccaggGaggtgtgctctttttctggg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56077598G>A	ENST00000394252.3	+	2	709	c.498_splice	c.e2-1	p.G167_splice		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	167							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						CCCTCCCAGGGAGGTGTGCTC	0.522													11	79					0	0	0	0	A	56077598	G	A	56077598	5	1	364	1	0	0	0	0	0	0	1	0	9575	1188	41	2	506	2	METTL7B	12	56077598	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	56077598	77774297	1299	70228	918	2									
BLOC1S1	2647	broad.mit.edu	37	chr12	56109967	56109967	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccaagcagaatgaacgCaaggagctgcagggtgagcc	13	3	15	10	1	0	3	0	2	0	1	0	4	0	4	2	3	5	4	2	3	4	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56109967C>T	ENST00000550412.1	+	1	148	c.132C>T	c.(130-132)cgC>cgT	p.R44R	BLOC1S1_ENST00000548925.1_Silent_p.R44R|BLOC1S1_ENST00000257899.2_Silent_p.R16R|BLOC1S1_ENST00000549147.1_Silent_p.R44R																endometrium(1)|lung(1)	2						AGAATGAACGCAAGGAGCTGC	0.622													4	12					0	0	0	0	T	56109967	C	T	56109967	2	4	364	1	0	0	0	0	0	0	0	1	1453	697	25	4		4	BLOC1S1	12	56109967	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	32369	56109967	77741928	1300	70229											
DNAJC14	85406	broad.mit.edu	37	chr12	56216453	56216453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtctccttcctcagcaggAtgcagcctattacactcagc	10	10	7	14	0	3	0	2	0	1	0	5	1	4	1	3	1	5	2	3	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56216453A>G	ENST00000546837.1	-	4	585	c.586T>C	c.(586-588)Tcc>Ccc	p.S196P	DNAJC14_ENST00000317287.5_Silent_p.H566H|RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Silent_p.H566H|DNAJC14_ENST00000357606.3_Silent_p.H566H																							CCTCAGCAGGATGCAGCCTAT	0.458													26	118					0	0	0	0	G	56216453	A	G	56216453	3	3	364	1	0	0	0	0	1	0	0	0	4669	330	12	5	422	5	DNAJC14	12	56216453	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	106486	56216453	77635442	1301	70230											
ERBB3	2065	broad.mit.edu	37	chr12	56487254	56487254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagctctgctaccaccactCtttgaactggaccaaggtgc	9	9	9	14	0	2	1	0	1	2	0	2	2	2	2	3	2	5	3	3	2	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56487254C>T	ENST00000267101.3	+	12	1840	c.1400C>T	c.(1399-1401)tCt>tTt	p.S467F	ERBB3_ENST00000415288.2_Missense_Mutation_p.S408F|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	467					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TACCACCACTCTTTGAACTGG	0.522													37	71					0	0	0	0	T	56487254	C	T	56487254	3	4	364	1	0	0	0	0	1	0	0	0	5246	913	32	2	1577	2	ERBB3	12	56487254	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	270801	56487254	77364641	1302	70231											
PA2G4	5036	broad.mit.edu	37	chr12	56504217	56504217	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgaatttgaggtacatGaagtatatgctgtggatgtt	12	14	12	3	0	0	3	0	3	0	0	0	4	0	4	0	2	3	5	0	2	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56504217G>T	ENST00000303305.6	+	8	1083	c.664G>T	c.(664-666)Gaa>Taa	p.E222*	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Nonsense_Mutation_p.E222*	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	222					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGAGGTACATGAAGTATATGC	0.438													15	75					8.60227e-14	8.8575e-14	1	0	T	56504217	G	T	56504217	4	4	364	1	0	0	0	0	0	1	0	0	11432	1291	45	2	694	2	PA2G4	12	56504217	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	16963	56504217	77347678	1303	70232											
ANKRD52	283373	broad.mit.edu	37	chr12	56638205	56638205	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtaaggtctgccttccctcGatacagcagaaattctacga	12	10	8	11	2	2	1	0	0	2	1	4	3	3	1	2	1	4	2	2	1	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56638205G>A	ENST00000267116.7	-	25	2858	c.2737C>T	c.(2737-2739)Cga>Tga	p.R913*	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	913							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCCTTCCCTCGATACAGCAGA	0.517													24	32					0	0	0	0	A	56638205	G	A	56638205	4	1	364	1	0	0	0	0	0	1	0	0	677	1066	37	1	509	1	ANKRD52	12	56638205	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	133988	56638205	77213690	1304	70233											
BAZ2A	11176	broad.mit.edu	37	chr12	57003658	57003658	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctcagtgtttcgaggtcGaccccgtttgccagtaattg	6	14	10	11	3	1	0	1	0	1	0	4	2	1	0	3	1	1	3	3	1	1	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57003658G>A	ENST00000179765.5	-	11	2063	c.1864C>T	c.(1864-1866)Cga>Tga	p.R622*	BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.R624*|BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.R652*|BAZ2A_ENST00000551812.1_Nonsense_Mutation_p.R654*			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	654					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TTTCGAGGTCGACCCCGTTTG	0.527													8	28					0	0	0	0	A	57003658	G	A	57003658	4	1	364	1	0	0	0	0	0	1	0	0	1335	1066	37	1	3837	1	BAZ2A	12	57003658	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	365453	57003658	76848237	1305	70234											
NACA	4666	broad.mit.edu	37	chr12	57111742	57111742	+	Missense_Mutation	SNP	G	G	A																															gggttgtgggggcccctttgGgggatggggtagctagacct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57111742G>A	ENST00000454682.1	-	3	3853	c.3572C>T	c.(3571-3573)cCc>cTc	p.P1191L	NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGCCCCTTTGGGGGATGGGGT	0.627			T	BCL6	NHL								29	165					0	0	0	0	A	57111742	G	A	57111742	3	1	364	1	0	0	0	0	1	0	0	0	10203	1232	43	4	2692	4	NACA	12	57111742	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	108084	57111742	76740153	1306	70235	919	2									
NACA	4666	broad.mit.edu	37	chr12	57111743	57111743	+	Missense_Mutation	SNP	G	G	A																															ggttgtgggggcccctttggGggatggggtagctagacctc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57111743G>A	ENST00000454682.1	-	3	3852	c.3571C>T	c.(3571-3573)Ccc>Tcc	p.P1191S	NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCCCCTTTGGGGGATGGGGTA	0.627			T	BCL6	NHL								28	163					0	0	0	0	A	57111743	G	A	57111743	3	1	364	1	0	0	0	0	1	0	0	0	10203	1232	43	4	2693	4	NACA	12	57111743	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	57111743	76740152	1307	70236	919	2									
NACA	4666	broad.mit.edu	37	chr12	57111775	57111775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagacctccttttggggaaGgaggagttgcagctggggtt	7	11	16	7	0	0	1	0	0	0	1	1	4	1	4	2	6	2	4	2	6	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57111775G>A	ENST00000454682.1	-	3	3820	c.3539C>T	c.(3538-3540)cCt>cTt	p.P1180L	NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTGGGGAAGGAGGAGTTGC	0.632			T	BCL6	NHL								35	159					0	0	0	0	A	57111775	G	A	57111775	3	1	364	1	0	0	0	0	1	0	0	0	10203	1000	35	4	2725	4	NACA	12	57111775	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	32	57111775	76740120	1308	70237											
SDR9C7	121214	broad.mit.edu	37	chr12	57324258	57324258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaccagcattgttcaccagGgcccagaggcctgggggtga	9	6	14	12	0	1	2	1	1	0	1	1	2	1	2	4	4	1	2	4	4	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57324258G>A	ENST00000293502.1	-	2	455	c.312C>T	c.(310-312)gcC>gcT	p.A104A		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	104						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TGTTCACCAGGGCCCAGAGGC	0.562													12	34					0	0	0	0	A	57324258	G	A	57324258	2	1	364	1	0	0	0	0	0	0	0	1	14061	1219	43	4		4	SDR9C7	12	57324258	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	212483	57324258	76527637	1309	70238											
LRP1	4035	broad.mit.edu	37	chr12	57554760	57554760	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtggatggatggctcacaCcgagacatctttgtcacctc	8	10	11	12	2	3	1	2	0	1	1	4	4	3	3	2	3	0	1	2	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57554760C>T	ENST00000243077.3	+	13	2530	c.2064C>T	c.(2062-2064)caC>caT	p.H688H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	688					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATGGCTCACACCGAGACATCT	0.622													21	135					0	0	0	0	T	57554760	C	T	57554760	2	4	364	1	0	0	0	0	0	0	0	1	9015	506	18	4		4	LRP1	12	57554760	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	230502	57554760	76297135	1310	70239											
LRP1	4035	broad.mit.edu	37	chr12	57569840	57569840	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcgccctctactggacCgacgtggtggaggacaagat	10	6	14	11	3	1	2	0	0	1	2	1	6	1	5	2	4	2	0	2	4	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57569840C>T	ENST00000243077.3	+	24	4408	c.3942C>T	c.(3940-3942)acC>acT	p.T1314T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1314					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCTACTGGACCGACGTGGTGG	0.632											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	91					0	0	0	0	T	57569840	C	T	57569840	2	4	364	1	0	0	0	0	0	0	0	1	9015	639	23	1		1	LRP1	12	57569840	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	15080	57569840	76282055	1311	70240											
MBD6	114785	broad.mit.edu	37	chr12	57919368	57919368	+	Missense_Mutation	SNP	G	G	A																															cagcccccgtttcctcccaaGgggcaatgccccctctccag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57919368G>A	ENST00000355673.3	+	6	973	c.617G>A	c.(616-618)aGg>aAg	p.R206K	MBD6_ENST00000431731.2_Missense_Mutation_p.R206K	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	206	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TTCCTCCCAAGGGGCAATGCC	0.647													28	89					0	0	0	0	A	57919368	G	A	57919368	3	1	364	1	0	0	0	0	1	0	0	0	9417	1000	35	4	631	4	MBD6	12	57919368	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	349528	57919368	75932527	1312	70241	920	2									
MBD6	114785	broad.mit.edu	37	chr12	57919369	57919369	+	Silent	SNP	G	G	A																															agcccccgtttcctcccaagGggcaatgccccctctccagc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57919369G>A	ENST00000355673.3	+	6	974	c.618G>A	c.(616-618)agG>agA	p.R206R	MBD6_ENST00000431731.2_Silent_p.R206R	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	206	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCCTCCCAAGGGGCAATGCCC	0.642													31	87					0	0	0	0	A	57919369	G	A	57919369	2	1	364	1	0	0	0	0	0	0	0	1	9417	1223	43	4		4	MBD6	12	57919369	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	57919369	75932526	1313	70242	920	2									
B4GALNT1	2583	broad.mit.edu	37	chr12	58020705	58020705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaccacgacgtcggagcagGagccaacccgaagggaacca	13	1	12	15	4	0	0	0	0	0	0	1	5	0	3	5	3	4	1	5	3	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:58020705G>A	ENST00000341156.4	-	11	2008	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.S420F	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	475					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTCGGAGCAGGAGCCAACCCG	0.582													7	27					0	0	0	0	A	58020705	G	A	58020705	3	1	364	1	0	0	0	0	1	0	0	0	1270	1174	41	2	181	2	B4GALNT1	12	58020705	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	101336	58020705	75831190	1314	70243											
CTDSP2	10106	broad.mit.edu	37	chr12	58220853	58220853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttgatcttcctctgtcaCctctgggagcaggcaggtcc	5	12	10	14	0	4	1	1	1	3	0	7	2	7	2	4	3	1	2	4	3	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:58220853C>A	ENST00000398073.2	-	4	583	c.280G>T	c.(280-282)Gtg>Ttg	p.V94L	CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	94					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					TCCTCTGTCACCTCTGGGAGC	0.493													34	70					2.20474e-14	2.27274e-14	1	0	A	58220853	C	A	58220853	3	1	364	1	0	0	0	0	1	0	0	0	4036	507	18	4	555	4	CTDSP2	12	58220853	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	200148	58220853	75631042	1315	70244											
LRIG3	121227	broad.mit.edu	37	chr12	59270358	59270358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagatgacaaataactaGgaatatctgctggcaagttg	14	10	10	7	0	1	2	0	2	1	1	1	4	1	3	1	2	2	3	1	2	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:59270358G>A	ENST00000320743.3	-	16	2850	c.2564C>T	c.(2563-2565)cCt>cTt	p.P855L	LRIG3_ENST00000379141.4_Missense_Mutation_p.P795L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	855						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CAAATAACTAGGAATATCTGC	0.458			T	ROS1	NSCLC								9	37					0	0	0	0	A	59270358	G	A	59270358	3	1	364	1	0	0	0	0	1	0	0	0	9010	1000	35	4	811	4	LRIG3	12	59270358	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1049505	59270358	74581537	1316	70245											
USP15	9958	broad.mit.edu	37	chr12	62784990	62784990	+	Missense_Mutation	SNP	C	C	T																															ccagccaggatcaagaacttCcctcagagaatgaaaacagt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:62784990C>T	ENST00000280377.5	+	16	2072	c.2014C>T	c.(2014-2016)Ccc>Tcc	p.P672S	USP15_ENST00000353364.3_Missense_Mutation_p.P643S|USP15_ENST00000393654.3_Missense_Mutation_p.P647S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	672					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCAAGAACTTCCCTCAGAGAA	0.368													7	49					0	0	0	0	T	62784990	C	T	62784990	3	4	364	1	0	0	0	0	1	0	0	0	17142	855	30	2	1985	2	USP15	12	62784990	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3514632	62784990	71066905	1317	70246	921	2									
USP15	9958	broad.mit.edu	37	chr12	62784991	62784991	+	Missense_Mutation	SNP	C	C	T																															cagccaggatcaagaacttcCctcagagaatgaaaacagtc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:62784991C>T	ENST00000280377.5	+	16	2073	c.2015C>T	c.(2014-2016)cCc>cTc	p.P672L	USP15_ENST00000353364.3_Missense_Mutation_p.P643L|USP15_ENST00000393654.3_Missense_Mutation_p.P647L	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	672					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CAAGAACTTCCCTCAGAGAAT	0.373													7	49					0	0	0	0	T	62784991	C	T	62784991	3	4	364	1	0	0	0	0	1	0	0	0	17142	623	22	4	1986	4	USP15	12	62784991	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	62784991	71066904	1318	70247	921	2									
TMEM5	10329	broad.mit.edu	37	chr12	64173779	64173779	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggctctgctcgtttcttatCgccctgtactgcctattctc	3	16	7	15	3	3	0	0	0	3	0	6	0	3	0	2	1	3	4	2	1	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:64173779C>T	ENST00000261234.6	+	1	197	c.39C>T	c.(37-39)atC>atT	p.I13I	RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	13						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CGTTTCTTATCGCCCTGTACT	0.682													22	25					0	0	0	0	T	64173779	C	T	64173779	2	4	364	1	0	0	0	0	0	0	0	1	16268	874	31	1		1	TMEM5	12	64173779	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1388788	64173779	69678116	1319	70248											
LEMD3	23592	broad.mit.edu	37	chr12	65640076	65640076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcttcgtcttcggactGgcctaaccaattctcaagga	9	12	7	13	2	4	0	2	0	3	0	7	2	4	2	2	3	1	0	2	3	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:65640076G>T	ENST00000308330.2	+	13	2733	c.2707G>T	c.(2707-2709)Ggc>Tgc	p.G903C		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	903	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TCTTCGGACTGGCCTAACCAA	0.398													18	100					6.94344e-10	7.10083e-10	1	0	T	65640076	G	T	65640076	3	4	364	1	0	0	0	0	1	0	0	0	8774	1348	47	4	2757	4	LEMD3	12	65640076	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1466297	65640076	68211819	1320	70249											
CPM	1368	broad.mit.edu	37	chr12	69264150	69264150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaagcatcggggaaatttCgattcaagtcatactggtta	14	11	9	7	2	2	0	2	0	0	0	4	2	2	1	0	3	2	2	0	3	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:69264150C>T	ENST00000551568.1	-	5	521	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	CPM_ENST00000338356.3_Missense_Mutation_p.R154Q|CPM_ENST00000546373.1_Missense_Mutation_p.R154Q	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	154					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GGGGAAATTTCGATTCAAGTC	0.403													13	91					0	0	0	0	T	69264150	C	T	69264150	3	4	364	1	0	0	0	0	1	0	0	0	3838	884	31	1	890	1	CPM	12	69264150	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3624074	69264150	64587745	1321	70250											
LRRC10	376132	broad.mit.edu	37	chr12	70004462	70004462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggtagagcttgaccagctCcctgaaggagcacacgtgca	11	6	12	12	1	0	3	0	2	0	1	1	4	1	4	2	2	4	5	2	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:70004462C>T	ENST00000361484.3	-	1	480	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	53						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGACCAGCTCCCTGAAGGAG	0.582													12	40					0	0	0	0	T	70004462	C	T	70004462	3	4	364	1	0	0	0	0	1	0	0	0	9031	864	30	2	680	2	LRRC10	12	70004462	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	740312	70004462	63847433	1322	70251											
PTPRB	5787	broad.mit.edu	37	chr12	70918333	70918333	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgtagctttcttgctctgagGacatctcttacacactgatg	8	14	8	11	1	3	2	0	2	3	0	4	3	3	3	0	1	3	3	0	1	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:70918333G>A	ENST00000334414.6	-	33	6587	c.6543C>T	c.(6541-6543)gtC>gtT	p.V2181V	PTPRB_ENST00000550857.1_Silent_p.V1873V|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000261266.5_Silent_p.V1963V|RP11-588H23.3_ENST00000549359.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000451516.2_Silent_p.V1873V|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550358.1_Silent_p.V2093V|PTPRB_ENST00000538708.1_Silent_p.V1873V|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1963					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGCTCTGAGGACATCTCTTA	0.428													6	65					0	0	0	0	A	70918333	G	A	70918333	2	1	364	1	0	0	0	0	0	0	0	1	12878	1161	41	2		2	PTPRB	12	70918333	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	913871	70918333	62933562	1323	70252											
KCNC2	3747	broad.mit.edu	37	chr12	75601548	75601548	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagcagccgcctggcccGggggacagcgggggcgctct	5	4	18	14	5	1	0	0	0	1	0	2	2	1	1	3	5	3	2	3	5	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:75601548G>A	ENST00000549446.1	-	2	896	c.216C>T	c.(214-216)ccC>ccT	p.P72P	KCNC2_ENST00000540018.1_Silent_p.P72P|KCNC2_ENST00000548513.1_Silent_p.P72P|KCNC2_ENST00000341669.3_Silent_p.P72P|KCNC2_ENST00000393288.2_Silent_p.P72P|KCNC2_ENST00000550433.1_Silent_p.P72P|KCNC2_ENST00000298972.1_Silent_p.P72P|KCNC2_ENST00000350228.2_Silent_p.P72P	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	72	Gly/Pro-rich (insert).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGCCTGGCCCGggggacagcg	0.761													2	0					0	0	0	0	A	75601548	G	A	75601548	2	1	364	1	0	0	0	0	0	0	0	1	8068	1103	39	1		1	KCNC2	12	75601548	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4683215	75601548	58250347	1324	70253											
NAV3	89795	broad.mit.edu	37	chr12	78553043	78553043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactggccgattgcaaagtCtaactatgacagcggaacaa	14	8	10	9	2	1	2	0	2	1	0	1	4	1	3	1	2	4	1	1	2	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:78553043C>T	ENST00000397909.2	+	23	5019	c.4846C>T	c.(4846-4848)Cta>Tta	p.L1616L	NAV3_ENST00000536525.2_Silent_p.L1616L|NAV3_ENST00000228327.6_Silent_p.L1616L|NAV3_ENST00000266692.7_Silent_p.L1439L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1616						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTGCAAAGTCTAACTATGAC	0.393										HNSCC(70;0.22)			6	51					0	0	0	0	T	78553043	C	T	78553043	2	4	364	1	0	0	0	0	0	0	0	1	10255	912	32	2		2	NAV3	12	78553043	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2951495	78553043	55298852	1325	70254											
PPFIA2	8499	broad.mit.edu	37	chr12	81747119	81747119	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccccaagagatttcacCtgaatggtgaatgaaaaaat	16	10	8	7	0	1	5	1	4	0	1	2	6	2	5	3	1	0	0	3	1	6	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:81747119C>T	ENST00000550584.2	-	16	2069		c.e16-1		PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000333447.7_Splice_Site	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2											NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GAGATTTCACCTGAATGGTGA	0.373													15	40					0	0	0	0	T	81747119	C	T	81747119	5	4	364	1	0	0	0	0	0	0	1	0	12381	695	24	4	2064	4	PPFIA2	12	81747119	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3194076	81747119	52104776	1326	70255											
TSPAN19	144448	broad.mit.edu	37	chr12	85413439	85413439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattcagaatagtccacttgGttatatcttcaggcttatct	10	16	6	9	0	4	1	2	0	2	1	5	1	5	1	1	2	0	2	1	2	5	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:85413439G>A	ENST00000532498.2	-	6	496	c.416C>T	c.(415-417)aCc>aTc	p.T139I	TSPAN19_ENST00000547403.2_5'UTR	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	139						integral to membrane				ovary(1)	1						AGTCCACTTGGTTATATCTTC	0.328													35	133					0	0	0	0	A	85413439	G	A	85413439	3	1	364	1	0	0	0	0	1	0	0	0	16738	1261	44	4	346	4	TSPAN19	12	85413439	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3666320	85413439	48438456	1327	70256											
LRRIQ1	84125	broad.mit.edu	37	chr12	85515605	85515605	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctggcactttgtcagtctCagattcgagaattcaacttg	9	14	8	10	1	3	2	3	0	1	2	6	3	4	2	1	1	1	1	1	1	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:85515605C>T	ENST00000393217.2	+	16	3569	c.3508C>T	c.(3508-3510)Cag>Tag	p.Q1170*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1170										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTGTCAGTCTCAGATTCGAGA	0.353													14	52					0	0	0	0	T	85515605	C	T	85515605	4	4	364	1	0	0	0	0	0	1	0	0	9093	827	29	2	3566	2	LRRIQ1	12	85515605	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	102166	85515605	48336290	1328	70257											
LRRIQ1	84125	broad.mit.edu	37	chr12	85518236	85518236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccataagaatcccatttaagGaagtagtaatgacaaattct	17	11	6	7	0	1	2	0	1	1	1	2	3	2	3	2	1	0	2	2	1	7	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:85518236G>A	ENST00000393217.2	+	17	4007	c.3946G>A	c.(3946-3948)Gaa>Aaa	p.E1316K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1316										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCCATTTAAGGAAGTAGTAAT	0.323													119	250					0	0	0	0	A	85518236	G	A	85518236	3	1	364	1	0	0	0	0	1	0	0	0	9093	1175	41	2	4008	2	LRRIQ1	12	85518236	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2631	85518236	48333659	1329	70258											
CEP290	80184	broad.mit.edu	37	chr12	88454692	88454692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcaactgttcattttctCtctggactttttcaactact	7	21	3	10	0	5	0	3	0	2	0	6	1	5	1	0	1	3	1	0	1	3	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:88454692C>T	ENST00000552810.1	-	47	6780	c.6437G>A	c.(6436-6438)aGa>aAa	p.R2146K	CEP290_ENST00000547691.2_Missense_Mutation_p.R1206K|CEP290_ENST00000309041.7_Missense_Mutation_p.R2148K|CEP290_ENST00000397838.3_Missense_Mutation_p.R1206K	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2146					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCATTTTCTCTCTGGACTTT	0.299													4	14					0	0	0	0	T	88454692	C	T	88454692	3	4	364	1	0	0	0	0	1	0	0	0	3282	913	32	2	1034	2	CEP290	12	88454692	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2936456	88454692	45397203	1330	70259											
TMTC3	160418	broad.mit.edu	37	chr12	88586521	88586521	+	Missense_Mutation	SNP	C	C	T																															acttaaagaaccaaatgaagCcctaaaaaactttaatcgtg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:88586521C>T	ENST00000266712.6	+	13	2067	c.1847C>T	c.(1846-1848)gCc>gTc	p.A616V		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	616						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCAAATGAAGCCCTAAAAAAC	0.343													28	75					0	0	0	0	T	88586521	C	T	88586521	3	4	364	1	0	0	0	0	1	0	0	0	16356	739	26	4	1893	4	TMTC3	12	88586521	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	131829	88586521	45265374	1331	70260	922	2									
TMTC3	160418	broad.mit.edu	37	chr12	88586522	88586522	+	Silent	SNP	C	C	T																															cttaaagaaccaaatgaagcCctaaaaaactttaatcgtgc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:88586522C>T	ENST00000266712.6	+	13	2068	c.1848C>T	c.(1846-1848)gcC>gcT	p.A616A		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	616						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CAAATGAAGCCCTAAAAAACT	0.343													29	76					0	0	0	0	T	88586522	C	T	88586522	2	4	364	1	0	0	0	0	0	0	0	1	16356	610	22	4		4	TMTC3	12	88586522	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	88586522	45265373	1332	70261	922	2									
KERA	11081	broad.mit.edu	37	chr12	91449634	91449634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgtaattgttctaaacttCttggcaatggagaaggtacc	12	14	9	6	0	2	1	0	0	2	1	2	2	2	1	1	3	2	4	1	3	6	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:91449634C>T	ENST00000266719.3	-	2	672	c.425G>A	c.(424-426)aGa>aAa	p.R142K		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	142					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTCTAAACTTCTTGGCAATGG	0.418													45	103					0	0	0	0	T	91449634	C	T	91449634	3	4	364	1	0	0	0	0	1	0	0	0	8195	913	32	2	641	2	KERA	12	91449634	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2863112	91449634	42402261	1333	70262											
C12orf74	338809	broad.mit.edu	37	chr12	93100531	93100531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagtttgaccggcaagccCcaggccgcatctccacctcg	7	7	9	18	3	1	1	0	1	1	0	4	1	2	1	7	2	1	3	7	2	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:93100531C>T	ENST00000544406.2	+	2	390	c.124C>T	c.(124-126)Cca>Tca	p.P42S	C12orf74_ENST00000397833.3_Missense_Mutation_p.P42S			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	42										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCGGCAAGCCCCAGGCCGCAT	0.642													7	70					0	0	0	0	T	93100531	C	T	93100531	3	4	364	1	0	0	0	0	1	0	0	0	1726	623	22	4	126	4	C12orf74	12	93100531	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1650897	93100531	40751364	1334	70263											
EEA1	8411	broad.mit.edu	37	chr12	93285445	93285445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacgtccactgtgtttataGgagttgctgatgaatctaaa	11	14	10	6	1	1	3	0	3	1	0	2	4	2	4	1	1	1	3	1	1	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:93285445G>A	ENST00000322349.8	-	2	341	c.77C>T	c.(76-78)cCt>cTt	p.P26L	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	26					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TGTGTTTATAGGAGTTGCTGA	0.358													55	130					0	0	0	0	A	93285445	G	A	93285445	3	1	364	1	0	0	0	0	1	0	0	0	4957	1000	35	4	4270	4	EEA1	12	93285445	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	184914	93285445	40566450	1335	70264											
PLXNC1	10154	broad.mit.edu	37	chr12	94613811	94613811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gactacagtgactatggtggGaagcttctctccaagacact	11	10	10	10	0	1	2	0	1	1	1	3	4	2	3	1	2	2	1	1	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:94613811G>A	ENST00000258526.4	+	6	1823	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	525					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACTATGGTGGGAAGCTTCTCT	0.478													43	210					0	0	0	0	A	94613811	G	A	94613811	3	1	364	1	0	0	0	0	1	0	0	0	12198	1174	41	2	1596	2	PLXNC1	12	94613811	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1328366	94613811	39238084	1336	70265											
PLXNC1	10154	broad.mit.edu	37	chr12	94642126	94642126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaagatcttaccaccatcCtttgcaaaattaaaggcatc	15	11	4	11	0	2	1	1	0	1	1	4	1	3	1	3	1	2	2	3	1	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:94642126C>T	ENST00000258526.4	+	14	2965	c.2716C>T	c.(2716-2718)Ctt>Ttt	p.L906F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	906					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TACCACCATCCTTTGCAAAAT	0.393													19	82					0	0	0	0	T	94642126	C	T	94642126	3	4	364	1	0	0	0	0	1	0	0	0	12198	681	24	4	2770	4	PLXNC1	12	94642126	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	28315	94642126	39209769	1337	70266											
ANKS1B	56899	broad.mit.edu	37	chr12	99223030	99223030	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctccttgcatcgccCtgcatgataatgtgaggaac	8	12	8	13	1	1	2	0	2	1	0	4	3	2	3	3	1	3	2	3	1	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:99223030C>T	ENST00000547776.2	-	19	2987	c.2988G>A	c.(2986-2988)caG>caA	p.Q996Q	ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000549493.2_Silent_p.Q222Q|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000329257.7_Silent_p.Q996Q|ANKS1B_ENST00000341752.7_Silent_p.Q2Q|ANKS1B_ENST00000546960.1_Silent_p.Q222Q|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000333732.7_Silent_p.Q2Q	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	996						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTGCATCGCCCTGCATGATAA	0.468													41	221					0	0	0	0	T	99223030	C	T	99223030	2	4	364	1	0	0	0	0	0	0	0	1	688	680	24	4		4	ANKS1B	12	99223030	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4580904	99223030	34628865	1338	70267											
ANKS1B	56899	broad.mit.edu	37	chr12	99478745	99478745	+	Frame_Shift_Del	DEL	C	C	-																															tgtagaattctttgtctgtgCccagaattaaggattccaat																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:99478745delC	ENST00000547776.2	-	16	2582	c.2583delG	c.(2581-2583)ggfs	p.G861fs	ANKS1B_ENST00000547010.1_Frame_Shift_Del_p.G437fs|ANKS1B_ENST00000546568.1_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000549558.2_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000329257.7_Frame_Shift_Del_p.G861fs|ANKS1B_ENST00000549025.2_Frame_Shift_Del_p.G30fs|ANKS1B_ENST00000546960.1_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000332712.7_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000549493.2_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000547446.1_Frame_Shift_Del_p.G56fs|ANKS1B_ENST00000550693.2_Frame_Shift_Del_p.G87fs	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	861	SAM 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTGTCTGTGCCCAGAATTAA	0.388													8	35	---	---	---	---					-	99478745	C	-	99478745	7	5	364	1	0	1	0	1	0	0	0	0	688	726	26	0	1398	0	ANKS1B	12	99478745	Frame_Shift_Del	DEL	C	TCGA-D6-6516-01A-11D-1870-08	255715	99478745	34373150	1339	70268											
SPIC	121599	broad.mit.edu	37	chr12	101873414	101873414	+	Missense_Mutation	SNP	C	C	T																															tcctcatgtcaaaggaaattCcagctgctatggagtgttgc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:101873414C>T	ENST00000551346.1	+	4	311	c.152C>T	c.(151-153)tCc>tTc	p.S51F	SPIC_ENST00000299272.5_Missense_Mutation_p.S51F			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAAGGAAATTCCAGCTGCTAT	0.358													9	56					0	0	0	0	T	101873414	C	T	101873414	3	4	364	1	0	0	0	0	1	0	0	0	15141	855	30	2	156	2	SPIC	12	101873414	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2394669	101873414	31978481	1340	70269	923	2									
SPIC	121599	broad.mit.edu	37	chr12	101873415	101873415	+	Silent	SNP	C	C	T																															cctcatgtcaaaggaaattcCagctgctatggagtgttgcc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:101873415C>T	ENST00000551346.1	+	4	312	c.153C>T	c.(151-153)tcC>tcT	p.S51S	SPIC_ENST00000299272.5_Silent_p.S51S			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAGGAAATTCCAGCTGCTATG	0.358													9	56					0	0	0	0	T	101873415	C	T	101873415	2	4	364	1	0	0	0	0	0	0	0	1	15141	581	21	4		4	SPIC	12	101873415	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	101873415	31978480	1341	70270	923	2									
PAH	5053	broad.mit.edu	37	chr12	103246621	103246621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatacatgggcttggatcCatgtctgatgtactgtgtgc	7	14	13	7	0	1	1	0	1	1	0	2	2	2	2	1	3	3	3	1	3	3	4	rs62507286		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:103246621C>T	ENST00000553106.1	-	7	1286	c.814G>A	c.(814-816)Gga>Aga	p.G272R	PAH_ENST00000307000.2_Missense_Mutation_p.G267R	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	272					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GGCTTGGATCCATGTCTGATG	0.562													51	87					0	0	0	0	T	103246621	C	T	103246621	3	4	364	1	0	0	0	0	1	0	0	0	11465	603	21	4	572	4	PAH	12	103246621	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1373206	103246621	30605274	1342	70271											
TXNRD1	7296	broad.mit.edu	37	chr12	104645324	104645324	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctaaagatcatcaccctggTaaaactttgccagagaaccc	14	8	7	12	0	2	2	2	0	0	2	2	3	2	2	3	1	3	2	3	1	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:104645324T>A	ENST00000525566.1	+	2	135	c.111T>A	c.(109-111)ggT>ggA	p.G37G	TXNRD1_ENST00000429002.2_Silent_p.G37G|TXNRD1_ENST00000526006.1_3'UTR	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	37					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						ATCACCCTGGTAAAACTTTGC	0.433													10	31					0	0	0	0	A	104645324	T	A	104645324	2	1	364	1	0	0	0	0	0	0	0	1	16903	1625	57	5		5	TXNRD1	12	104645324	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1398703	104645324	29206571	1343	70272											
POLR3B	55703	broad.mit.edu	37	chr12	106826181	106826181	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgttaaattagccagtaActtgggagtagaagatgtga	14	12	11	4	0	0	3	0	1	0	2	0	4	0	4	1	1	2	3	1	1	6	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:106826181A>G	ENST00000228347.4	+	15	1772	c.1550A>G	c.(1549-1551)aAc>aGc	p.N517S	POLR3B_ENST00000539066.1_Missense_Mutation_p.N459S	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	517					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTAGCCAGTAACTTGGGAGTA	0.368													68	105					0	0	0	0	G	106826181	A	G	106826181	3	3	364	1	0	0	0	0	1	0	0	0	12301	43	2	5	1608	5	POLR3B	12	106826181	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	2180857	106826181	27025714	1344	70273											
ASCL4	121549	broad.mit.edu	37	chr12	108169094	108169094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcccggactcccgcggagGgaccccctcagggtcgccct	4	5	13	19	4	1	0	1	0	0	0	3	3	2	3	5	4	1	0	5	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:108169094G>A	ENST00000342331.4	+	1	933	c.102G>A	c.(100-102)agG>agA	p.R34R		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	33					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						TCCCGCGGAGGGACCCCCTCA	0.731													8	51					0	0	0	0	A	108169094	G	A	108169094	2	1	364	1	0	0	0	0	0	0	0	1	1040	1223	43	4		4	ASCL4	12	108169094	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1342913	108169094	25682801	1345	70274											
WSCD2	9671	broad.mit.edu	37	chr12	108589835	108589835	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgcatctgggcagaggtTtccgggacacaggtgaagcc	10	7	14	10	1	1	2	0	1	1	1	2	3	2	3	2	4	2	3	2	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:108589835T>A	ENST00000332082.4	+	3	1044	c.226T>A	c.(226-228)Ttc>Atc	p.F76I	WSCD2_ENST00000547525.1_Missense_Mutation_p.F76I|WSCD2_ENST00000261400.3_Missense_Mutation_p.F76I|WSCD2_ENST00000549903.1_Missense_Mutation_p.F76I			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	76						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGGCAGAGGTTTCCGGGACAC	0.622													37	179					0	0	0	0	A	108589835	T	A	108589835	3	1	364	1	0	0	0	0	1	0	0	0	17503	1841	64	5	228	5	WSCD2	12	108589835	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	420741	108589835	25262060	1346	70275											
SSH1	54434	broad.mit.edu	37	chr12	109182304	109182304	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctggctgggcataaccagGgggcccagctcgtggagcgc	6	5	17	13	2	0	0	0	0	0	0	1	1	0	1	3	5	3	3	3	5	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:109182304G>A	ENST00000326495.5	-	15	2703	c.2610C>T	c.(2608-2610)ccC>ccT	p.P870P	SSH1_ENST00000360239.3_Silent_p.P558P	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	870					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCATAACCAGGGGGCCCAGCT	0.667													5	37					0	0	0	0	A	109182304	G	A	109182304	2	1	364	1	0	0	0	0	0	0	0	1	15274	1219	43	4		4	SSH1	12	109182304	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	592469	109182304	24669591	1347	70276											
DAO	1610	broad.mit.edu	37	chr12	109290808	109290808	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccccttggatgaagcacttCattctcacccatgacccaga	10	9	7	15	0	2	3	2	2	1	1	3	4	2	4	4	1	1	1	4	1	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:109290808C>T	ENST00000228476.3	+	8	843	c.639C>T	c.(637-639)ttC>ttT	p.F213F	DAO_ENST00000551281.1_Silent_p.F147F	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	213					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						TGAAGCACTTCATTCTCACCC	0.547													20	88					0	0	0	0	T	109290808	C	T	109290808	2	4	364	1	0	0	0	0	0	0	0	1	4264	825	29	2		2	DAO	12	109290808	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	108504	109290808	24561087	1348	70277											
USP30	84749	broad.mit.edu	37	chr12	109522852	109522852	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtcagcgccgatgcccttCcctctcccagttgttcccga	4	11	8	18	3	2	0	1	0	1	0	5	2	4	0	5	0	2	2	5	0	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:109522852C>T	ENST00000257548.5	+	12	1356	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	USP30_ENST00000392784.2_Silent_p.F390F	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	421					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CGATGCCCTTCCCTCTCCCAG	0.502													71	350					0	0	0	0	T	109522852	C	T	109522852	2	4	364	1	0	0	0	0	0	0	0	1	17157	854	30	2		2	USP30	12	109522852	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	232044	109522852	24329043	1349	70278											
C12orf76	400073	broad.mit.edu	37	chr12	110495088	110495088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctttcagcaaagttcctctCccccttacagctcctaaggt	8	12	5	16	0	2	0	1	0	1	0	5	0	4	0	5	1	3	3	5	1	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:110495088C>T	ENST00000309050.5	-	4	569	c.205G>A	c.(205-207)Gag>Aag	p.E69K	C12orf76_ENST00000548191.1_Intron|C12orf76_ENST00000548936.1_Intron	NM_207435.1	NP_997318.1	Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	69										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						AAGTTCCTCTCCCCCTTACAG	0.512													4	35					0	0	0	0	T	110495088	C	T	110495088	3	4	364	1	0	0	0	0	1	0	0	0	1727	864	30	2	210	2	C12orf76	12	110495088	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	972236	110495088	23356807	1350	70279											
CUX2	23316	broad.mit.edu	37	chr12	111776107	111776107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagggcagcggctgtttgggGaaagcatcctgggtctgaca	8	8	16	9	1	1	1	0	1	1	0	2	2	2	2	1	5	2	4	1	5	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:111776107G>A	ENST00000261726.6	+	20	3368	c.3214G>A	c.(3214-3216)Gaa>Aaa	p.E1072K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1072						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTGTTTGGGGAAAGCATCCT	0.622													9	68					0	0	0	0	A	111776107	G	A	111776107	3	1	364	1	0	0	0	0	1	0	0	0	4097	1175	41	2	3292	2	CUX2	12	111776107	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1281019	111776107	22075788	1351	70280											
CUX2	23316	broad.mit.edu	37	chr12	111785402	111785402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgatccaagcgggggtcctgGaatcctaccgccaggccact	8	7	12	14	2	0	1	0	1	0	0	3	2	3	2	6	4	2	0	6	4	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:111785402G>A	ENST00000261726.6	+	22	3888	c.3734G>A	c.(3733-3735)gGa>gAa	p.G1245E		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGGGGTCCTGGAATCCTACCG	0.652													12	92					0	0	0	0	A	111785402	G	A	111785402	3	1	364	1	0	0	0	0	1	0	0	0	4097	1174	41	2	3820	2	CUX2	12	111785402	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	9295	111785402	22066493	1352	70281											
ATXN2	6311	broad.mit.edu	37	chr12	111951193	111951193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatgaccacgttccccccGagggactggtccttgctact	6	10	10	15	2	0	2	0	2	0	0	2	4	2	3	5	2	2	2	5	2	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:111951193G>A	ENST00000377617.3	-	11	2167	c.2006C>T	c.(2005-2007)tCg>tTg	p.S669L	ATXN2_ENST00000389153.4_Missense_Mutation_p.S404L|ATXN2_ENST00000550104.1_Missense_Mutation_p.S669L|ATXN2_ENST00000535949.1_Missense_Mutation_p.S380L|ATXN2_ENST00000542287.2_Missense_Mutation_p.S404L	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	669	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTCCCCCCGAGGGACTGGT	0.512													37	49					0	0	0	0	A	111951193	G	A	111951193	3	1	364	1	0	0	0	0	1	0	0	0	1215	1059	37	1	1995	1	ATXN2	12	111951193	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	165791	111951193	21900702	1353	70282											
ACAD10	80724	broad.mit.edu	37	chr12	112182645	112182645	+	Missense_Mutation	SNP	C	C	T																															aggcagcaggagttatagctCcgttccagaagcttccccag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:112182645C>T	ENST00000455480.2	+	14	2183	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.S240F|ACAD10_ENST00000313698.4_Missense_Mutation_p.S638F|ACAD10_ENST00000549590.1_Missense_Mutation_p.S638F	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	638							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGTTATAGCTCCGTTCCAGAA	0.562													15	64					0	0	0	0	T	112182645	C	T	112182645	3	4	364	1	0	0	0	0	1	0	0	0	108	855	30	2	2056	2	ACAD10	12	112182645	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	231452	112182645	21669250	1354	70283	924	2									
ACAD10	80724	broad.mit.edu	37	chr12	112182646	112182646	+	Silent	SNP	C	C	T																															ggcagcaggagttatagctcCgttccagaagcttccccagc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:112182646C>T	ENST00000455480.2	+	14	2184	c.2007C>T	c.(2005-2007)tcC>tcT	p.S669S	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Silent_p.S240S|ACAD10_ENST00000313698.4_Silent_p.S638S|ACAD10_ENST00000549590.1_Silent_p.S638S	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	638							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GTTATAGCTCCGTTCCAGAAG	0.567													14	63					0	0	0	0	T	112182646	C	T	112182646	2	4	364	1	0	0	0	0	0	0	0	1	108	639	23	1		1	ACAD10	12	112182646	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	112182646	21669249	1355	70284	924	2									
MED13L	23389	broad.mit.edu	37	chr12	116434339	116434339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggcagttgttcaattttagGaggaattgcccatgaaggcc	10	11	13	7	0	1	1	1	1	0	0	1	3	1	3	2	4	1	3	2	4	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:116434339G>A	ENST00000281928.3	-	16	3144	c.2938C>T	c.(2938-2940)Cct>Tct	p.P980S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	980					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCAATTTTAGGAGGAATTGCC	0.458													15	64					0	0	0	0	A	116434339	G	A	116434339	3	1	364	1	0	0	0	0	1	0	0	0	9500	1174	41	2	3758	2	MED13L	12	116434339	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4251693	116434339	17417556	1356	70285											
SRRM4	84530	broad.mit.edu	37	chr12	119588916	119588916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccatgaaagggtgttccCgcagctcctcctatgccagc	8	8	9	16	1	0	1	0	1	0	0	3	1	3	1	5	1	3	3	5	1	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:119588916C>T	ENST00000267260.4	+	10	1559	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	391	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGGGTGTTCCCGCAGCTCCTC	0.592													5	48					0	0	0	0	T	119588916	C	T	119588916	3	4	364	1	0	0	0	0	1	0	0	0	15261	652	23	1	1209	1	SRRM4	12	119588916	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3154577	119588916	14262979	1357	70286											
CCDC60	160777	broad.mit.edu	37	chr12	119866561	119866561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaaaaaggaccttatacGaagccggtgagtgagcccag	13	6	11	11	2	1	2	1	2	0	0	1	4	1	3	4	2	3	0	4	2	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:119866561G>A	ENST00000327554.2	+	2	629	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000536742.1_Missense_Mutation_p.R55Q|CCDC60_ENST00000539847.1_Missense_Mutation_p.R55Q	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	55										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GACCTTATACGAAGCCGGTGA	0.478													4	12					0	0	0	0	A	119866561	G	A	119866561	3	1	364	1	0	0	0	0	1	0	0	0	2858	1058	37	1	170	1	CCDC60	12	119866561	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	277645	119866561	13985334	1358	70287											
HNF1A	6927	broad.mit.edu	37	chr12	121416883	121416883	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccagaaagccgtggtGgagacccttctgcagtaagg	10	6	13	12	1	1	2	0	0	1	2	1	3	1	2	4	3	2	2	4	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:121416883G>A	ENST00000257555.6	+	1	538	c.312G>A	c.(310-312)gtG>gtA	p.V104V	HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.V104V|HNF1A_ENST00000400024.2_Silent_p.V104V|HNF1A_ENST00000541395.1_Silent_p.V104V|HNF1A_ENST00000543427.1_5'UTR|HNF1A_ENST00000402929.1_Silent_p.V104V|HNF1A-AS1_ENST00000535301.1_RNA|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A-AS1_ENST00000433033.2_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A	104					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAGCCGTGGTGGAGACCCTTC	0.642									Hepatic Adenoma, Familial Clustering of				5	14					0	0	0	0	A	121416883	G	A	121416883	2	1	364	1	0	0	0	0	0	0	0	1	7301	1335	47	4		4	HNF1A	12	121416883	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1550322	121416883	12435012	1359	70288											
RSRC2	65117	broad.mit.edu	37	chr12	123001925	123001925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggatctcgatttcttccgctCcctactcctggatcgagact	6	13	8	14	3	2	1	0	0	2	1	7	5	5	3	3	2	1	1	3	2	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123001925C>T	ENST00000331738.7	-	5	596	c.451G>A	c.(451-453)Gag>Aag	p.E151K	RSRC2_ENST00000354654.2_Missense_Mutation_p.E103K	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	151	Ser-rich.									breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TTCTTCCGCTCCCTACTCCTG	0.463													23	79					0	0	0	0	T	123001925	C	T	123001925	3	4	364	1	0	0	0	0	1	0	0	0	13800	864	30	2	877	2	RSRC2	12	123001925	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1585042	123001925	10849970	1360	70289											
HIP1R	9026	broad.mit.edu	37	chr12	123343423	123343423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctctgacccgcttctccCacctggctgcggataccatc	6	9	8	18	2	2	1	0	1	2	0	4	2	2	2	4	2	3	3	4	2	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123343423C>T	ENST00000253083.4	+	21	2214	c.2089C>T	c.(2089-2091)Cac>Tac	p.H697Y		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	697					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCGCTTCTCCCACCTGGCTGC	0.657													16	70					0	0	0	0	T	123343423	C	T	123343423	3	4	364	1	0	0	0	0	1	0	0	0	7165	594	21	4	2171	4	HIP1R	12	123343423	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	341498	123343423	10508472	1361	70290											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123687373	123687373	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggtcctactttcgttttGgaatgtctgatttttccaag	7	18	8	8	1	1	1	0	1	1	0	4	2	3	2	2	2	1	1	2	2	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123687373G>A	ENST00000606320.1	-	10	1785	c.1579C>T	c.(1579-1581)Caa>Taa	p.Q527*	MPHOSPH9_ENST00000302349.5_Nonsense_Mutation_p.Q375*|MPHOSPH9_ENST00000541076.2_Nonsense_Mutation_p.Q497*|MPHOSPH9_ENST00000392425.3_Nonsense_Mutation_p.Q375*			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	375					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTTTCGTTTTGGAATGTCTGA	0.403													22	134					0	0	0	0	A	123687373	G	A	123687373	4	1	364	1	0	0	0	0	0	1	0	0	9798	1357	47	4	2032	4	MPHOSPH9	12	123687373	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	343950	123687373	10164522	1362	70291											
SBNO1	55206	broad.mit.edu	37	chr12	123812357	123812357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgttgcgtggttcagaagCacctgaaaatcccacaaatg	13	9	9	10	1	1	2	1	1	0	1	2	2	2	2	2	1	2	3	2	1	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123812357C>A	ENST00000420886.2	-	11	1434	c.1435G>T	c.(1435-1437)Gct>Tct	p.A479S	SBNO1_ENST00000602750.1_Missense_Mutation_p.A478S|SBNO1_ENST00000602398.1_Missense_Mutation_p.A479S|SBNO1_ENST00000267176.4_Missense_Mutation_p.A478S	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	479							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GGTTCAGAAGCACCTGAAAAT	0.343													13	79					0.00010058	0.000101669	1	0	A	123812357	C	A	123812357	3	1	364	1	0	0	0	0	1	0	0	0	13948	710	25	4	2830	4	SBNO1	12	123812357	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	124984	123812357	10039538	1363	70292											
DNAH10	196385	broad.mit.edu	37	chr12	124272466	124272466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcttcggggagggaagatCggtgggagtttgaccggaag	9	7	20	5	3	0	2	0	1	0	1	2	6	0	6	1	7	0	2	1	7	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124272466C>T	ENST00000409039.3	+	10	1379	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	452	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAGGGAAGATCGGTGGGAGTT	0.577													13	25					0	0	0	0	T	124272466	C	T	124272466	3	4	364	1	0	0	0	0	1	0	0	0	4635	875	31	1	1392	1	DNAH10	12	124272466	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	460109	124272466	9579429	1364	70293											
CCDC92	80212	broad.mit.edu	37	chr12	124421792	124421792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgctcgccgcttcggtcgGaggcgatgggggggatgacg	4	7	20	10	6	0	1	0	1	0	0	3	4	0	3	1	6	1	3	1	6	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124421792G>A	ENST00000545135.1	-	3	4054	c.758C>T	c.(757-759)tCc>tTc	p.S253F	CCDC92_ENST00000238156.3_Missense_Mutation_p.S270F|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.S253F			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	270			A -> T (in dbSNP:rs35935939).							large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GCTTCGGTCGGAGGCGATGGG	0.692													7	52					0	0	0	0	A	124421792	G	A	124421792	3	1	364	1	0	0	0	0	1	0	0	0	2898	1174	41	2	190	2	CCDC92	12	124421792	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	149326	124421792	9430103	1365	70294											
ZNF664	144348	broad.mit.edu	37	chr12	124497004	124497004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagctcccatcttcaaattCatatgagagttcatacaggt	12	12	8	9	0	4	1	3	1	1	1	5	3	5	2	1	2	2	2	1	2	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124497004C>T	ENST00000539644.1	+	6	2143	c.313C>T	c.(313-315)Cat>Tat	p.H105Y	RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000337815.4_Missense_Mutation_p.H105Y|ZNF664_ENST00000392404.3_Missense_Mutation_p.H105Y|ZNF664_ENST00000538932.2_Missense_Mutation_p.H105Y			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TCTTCAAATTCATATGAGAGT	0.408													39	57					0	0	0	0	T	124497004	C	T	124497004	3	4	364	1	0	0	0	0	1	0	0	0	18167	826	29	2	315	2	ZNF664	12	124497004	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	75212	124497004	9354891	1366	70295											
NCOR2	9612	broad.mit.edu	37	chr12	124819764	124819764	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgggctggacgagggctGgctctcaggcagcggccgca	6	4	18	13	4	1	0	1	0	1	0	2	2	1	1	1	6	2	5	1	6	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124819764G>A	ENST00000356219.3	-	41	6504	c.6349C>T	c.(6349-6351)Cag>Tag	p.Q2117*	NCOR2_ENST00000429285.2_Nonsense_Mutation_p.Q2100*|NCOR2_ENST00000405201.1_Nonsense_Mutation_p.Q2110*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.Q2100*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.Q1671*|NCOR2_ENST00000397355.1_Nonsense_Mutation_p.Q2101*	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2121					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GACGAGGGCTGGCTCTCAGGC	0.687													11	16					0	0	0	0	A	124819764	G	A	124819764	4	1	364	1	0	0	0	0	0	1	0	0	10306	1357	47	4	1248	4	NCOR2	12	124819764	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	322760	124819764	9032131	1367	70296											
DHX37	57647	broad.mit.edu	37	chr12	125460001	125460001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctccttggccactcgctggGacatggccacggcggccact	5	8	12	16	3	1	0	0	0	1	0	3	1	1	1	4	5	0	1	4	5	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:125460001G>A	ENST00000308736.2	-	6	1042	c.944C>T	c.(943-945)tCc>tTc	p.S315F	DHX37_ENST00000544745.1_Missense_Mutation_p.S102F	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	315	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CACTCGCTGGGACATGGCCAC	0.647													25	55					0	0	0	0	A	125460001	G	A	125460001	3	1	364	1	0	0	0	0	1	0	0	0	4547	1174	41	2	2617	2	DHX37	12	125460001	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	640237	125460001	8391894	1368	70297											
TMEM132B	114795	broad.mit.edu	37	chr12	125834437	125834437	+	Silent	SNP	C	C	T																															tgtgtcaagatgtttgctttCcctgaggccagggaagtggc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:125834437C>T	ENST00000299308.3	+	2	500	c.492C>T	c.(490-492)ttC>ttT	p.F164F	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	164						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGTTTGCTTTCCCTGAGGCCA	0.587													32	129					0	0	0	0	T	125834437	C	T	125834437	2	4	364	1	0	0	0	0	0	0	0	1	16140	854	30	2		2	TMEM132B	12	125834437	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	374436	125834437	8017458	1369	70298	925	2									
TMEM132B	114795	broad.mit.edu	37	chr12	125834438	125834438	+	Missense_Mutation	SNP	C	C	T																															gtgtcaagatgtttgctttcCctgaggccagggaagtggca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:125834438C>T	ENST00000299308.3	+	2	501	c.493C>T	c.(493-495)Cct>Tct	p.P165S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	165						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTTTGCTTTCCCTGAGGCCAG	0.582													31	130					0	0	0	0	T	125834438	C	T	125834438	3	4	364	1	0	0	0	0	1	0	0	0	16140	623	22	4	499	4	TMEM132B	12	125834438	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	125834438	8017457	1370	70299	925	2									
TMEM132B	114795	broad.mit.edu	37	chr12	126138849	126138849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaacatcccccattcccacGactgggtctggcttgggaat	8	9	10	14	1	1	0	0	0	1	0	3	2	3	1	3	3	1	2	3	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:126138849G>A	ENST00000299308.3	+	9	2838	c.2830G>A	c.(2830-2832)Gac>Aac	p.D944N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D456N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	944						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCATTCCCACGACTGGGTCTG	0.517													17	101					0	0	0	0	A	126138849	G	A	126138849	3	1	364	1	0	0	0	0	1	0	0	0	16140	1058	37	1	2864	1	TMEM132B	12	126138849	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	304411	126138849	7713046	1371	70300											
TMEM132D	121256	broad.mit.edu	37	chr12	129559115	129559115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgtcatctaaaaggctttCctggcctttcttcttctgca	6	17	7	11	0	5	0	1	0	4	0	6	0	6	0	2	2	1	3	2	2	2	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:129559115C>T	ENST00000422113.2	-	9	2931	c.2605G>A	c.(2605-2607)Gaa>Aaa	p.E869K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E407K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	869						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAAAGGCTTTCCTGGCCTTTC	0.557													13	49					0	0	0	0	T	129559115	C	T	129559115	3	4	364	1	0	0	0	0	1	0	0	0	16141	864	30	2	698	2	TMEM132D	12	129559115	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3420266	129559115	4292780	1372	70301											
TMEM132D	121256	broad.mit.edu	37	chr12	129559604	129559604	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagcaactgatggctgcttCctatggagaaaaatatgtaa	14	10	9	8	0	0	2	0	1	0	1	1	3	1	2	2	2	3	4	2	2	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:129559604C>T	ENST00000422113.2	-	9	2442	c.2115_splice	c.e9-1	p.E706_splice	TMEM132D_ENST00000389441.4_Splice_Site_p.E244_splice	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	706						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGGCTGCTTCCTATGGAGAA	0.443													4	36					0	0	0	0	T	129559604	C	T	129559604	5	4	364	1	0	0	0	0	0	0	1	0	16141	869	30	2	1187	2	TMEM132D	12	129559604	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	489	129559604	4292291	1373	70302											
FZD10	11211	broad.mit.edu	37	chr12	130648775	130648775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccggagggtgatgaagacgGgcggcgagaacacggacaag	12	3	18	8	5	0	4	0	2	0	2	1	7	1	6	1	5	1	0	1	5	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:130648775G>A	ENST00000539839.1	+	1	1772	c.1190G>A	c.(1189-1191)gGg>gAg	p.G397E	FZD10_ENST00000229030.4_Missense_Mutation_p.G430S	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GATGAAGACGGGCGGCGAGAA	0.607													13	60					0	0	0	0	A	130648775	G	A	130648775	3	1	364	1	0	0	0	0	1	0	0	0	6177	1232	43	4	1290	4	FZD10	12	130648775	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1089171	130648775	3203120	1374	70303											
CHFR	55743	broad.mit.edu	37	chr12	133423717	133423717	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctggttgccaggtaattCtgtgacgcaaaaaaagagag	13	9	11	8	1	2	2	0	1	2	1	2	3	2	2	2	2	1	3	2	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:133423717C>A	ENST00000266880.7	-	16	1744		c.e16-1		CHFR_ENST00000443047.2_Splice_Site|CHFR_ENST00000541837.2_Splice_Site|CHFR_ENST00000537522.1_Splice_Site|CHFR_ENST00000432561.2_Splice_Site|CHFR_ENST00000450056.2_Splice_Site|CHFR_ENST00000541341.1_Splice_Site|CHFR_ENST00000315585.7_Splice_Site			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase						cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CCAGGTAATTCTGTGACGCAA	0.443													8	38					3.09899e-07	3.15019e-07	1	0	A	133423717	C	A	133423717	5	1	364	1	0	0	0	0	0	0	1	0	3366	927	32	2	327	2	CHFR	12	133423717	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2774942	133423717	428178	1375	70304											
TPTE2	93492	broad.mit.edu	37	chr13	20067628	20067628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcggttgttcctttaaattCgtttgtctgtggactagcgg	5	17	11	8	3	1	0	0	0	1	0	4	1	2	1	1	3	1	3	1	3	3	7	rs140148307		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:20067628C>T	ENST00000400230.2	-	2	69	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	TPTE2_ENST00000390680.2_Missense_Mutation_p.E9K|TPTE2_ENST00000382977.4_Missense_Mutation_p.E9K|TPTE2_ENST00000382978.1_Missense_Mutation_p.E9K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E9K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E9K|TPTE2_ENST00000457266.2_Missense_Mutation_p.E9K|TPTE2_ENST00000255310.6_Missense_Mutation_p.E9K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	9						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTTAAATTCGTTTGTCTGT	0.358													30	112					0	0	0	0	T	20067628	C	T	20067628	3	4	364	1	0	0	0	0	1	0	0	0	16526	893	31	1	1619	1	TPTE2	13	20067628	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08		20067628	95102250	1376	70305											
IFT88	8100	broad.mit.edu	37	chr13	21205187	21205187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaagtgttggaaaaaaaGgacagtagagtgaaaagtgc	19	8	12	2	0	0	2	0	1	0	1	0	4	0	4	0	2	1	2	0	2	8	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:21205187G>A	ENST00000382778.4	+	17	2477	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K	IFT88_ENST00000319980.6_Silent_p.K453K|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000537103.1_Silent_p.K425K|IFT88_ENST00000351808.5_Silent_p.K444K			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	453					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGGAAAAAAAGGACAGTAGAG	0.353													22	96					0	0	0	0	A	21205187	G	A	21205187	2	1	364	1	0	0	0	0	0	0	0	1	7619	991	35	4		4	IFT88	13	21205187	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1137559	21205187	93964691	1377	70306											
LATS2	26524	broad.mit.edu	37	chr13	21563351	21563351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagcttgggccctcgtaggGggtaccgctcagctggtggt	5	9	17	10	2	1	0	1	0	0	0	2	1	1	0	2	5	3	5	2	5	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:21563351G>A	ENST00000382592.4	-	4	973	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	LATS2_ENST00000542899.1_Missense_Mutation_p.P190S|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	190					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCCTCGTAGGGGGTACCGCTC	0.677													8	64					0	0	0	0	A	21563351	G	A	21563351	3	1	364	1	0	0	0	0	1	0	0	0	8700	1232	43	4	2718	4	LATS2	13	21563351	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	358164	21563351	93606527	1378	70307											
SACS	26278	broad.mit.edu	37	chr13	23907553	23907553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taattttgcatcataagagaGattttcaatttttggtaaga	14	17	7	3	0	2	3	2	0	0	3	2	4	2	3	0	1	1	2	0	1	4	9			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:23907553G>A	ENST00000382298.3	-	10	11050	c.10462C>T	c.(10462-10464)Ctc>Ttc	p.L3488F	SACS_ENST00000382292.3_Missense_Mutation_p.L3488F|SACS_ENST00000402364.1_Missense_Mutation_p.L2738F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3488					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCATAAGAGAGATTTTCAATT	0.308													6	31					0	0	0	0	A	23907553	G	A	23907553	3	1	364	1	0	0	0	0	1	0	0	0	13889	942	33	2	3281	2	SACS	13	23907553	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2344202	23907553	91262325	1379	70308											
SACS	26278	broad.mit.edu	37	chr13	23913425	23913425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacaaaatctgaatctgaGaattgagaattgttgaatga	16	13	8	4	0	3	5	1	5	2	2	3	7	3	5	0	0	0	1	0	0	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:23913425G>A	ENST00000382298.3	-	10	5178	c.4590C>T	c.(4588-4590)ttC>ttT	p.F1530F	SACS_ENST00000382292.3_Silent_p.F1530F|SACS_ENST00000402364.1_Silent_p.F780F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1530					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGAATCTGAGAATTGAGAAT	0.373													10	30					0	0	0	0	A	23913425	G	A	23913425	2	1	364	1	0	0	0	0	0	0	0	1	13889	933	33	2		2	SACS	13	23913425	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5872	23913425	91256453	1380	70309											
SACS	26278	broad.mit.edu	37	chr13	23930133	23930133	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgatttggtcaccactaaaGatacaaggaacatctgtaaa	16	9	7	9	1	2	1	1	0	1	1	2	3	2	2	2	2	2	1	2	2	7	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:23930133G>A	ENST00000382298.3	-	8	1206	c.618C>T	c.(616-618)atC>atT	p.I206I	SACS_ENST00000382292.3_Silent_p.I206I|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	206					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACCACTAAAGATACAAGGAA	0.333													5	19					0	0	0	0	A	23930133	G	A	23930133	2	1	364	1	0	0	0	0	0	0	0	1	13889	932	33	2		2	SACS	13	23930133	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	16708	23930133	91239745	1381	70310											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24466110	24466110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctttctctcccatgggcCctgcaagccccttggggcca	4	9	11	17	0	1	0	0	0	1	0	3	0	2	0	6	4	2	1	6	4	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:24466110C>T	ENST00000382137.3	-	3	388	c.320G>A	c.(319-321)gGg>gAg	p.G107E	C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G107E|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	107	Collagen-like 2.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCCCATGGGCCCTGCAAGCCC	0.577													19	73					0	0	0	0	T	24466110	C	T	24466110	3	4	364	1	0	0	0	0	1	0	0	0	1990	623	22	4	684	4	C1QTNF9B	13	24466110	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	535977	24466110	90703768	1382	70311											
C1QTNF9	338872	broad.mit.edu	37	chr13	24895224	24895224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggccccaaggggcttgcagGgcccatgggagagaagggcc	8	4	18	11	0	0	1	0	0	0	1	0	3	0	2	4	6	1	2	4	6	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:24895224G>A	ENST00000382071.2	+	4	405	c.320G>A	c.(319-321)gGg>gAg	p.G107E	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G107E			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	107	Collagen-like 2.					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)		GGGCTTGCAGGGCCCATGGGA	0.582													4	26					0	0	0	0	A	24895224	G	A	24895224	3	1	364	1	0	0	0	0	1	0	0	0	1989	1232	43	4	330	4	C1QTNF9	13	24895224	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	429114	24895224	90274654	1383	70312											
ATP12A	479	broad.mit.edu	37	chr13	25272805	25272805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcccagctctccatcCacgagatggatgacccccac	8	9	6	18	1	1	2	0	1	1	1	5	4	4	3	6	1	1	1	6	1	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:25272805C>T	ENST00000218548.6	+	12	1873	c.1540C>T	c.(1540-1542)Cac>Tac	p.H514Y	ATP12A_ENST00000381946.3_Missense_Mutation_p.H508Y	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	508					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCTCTCCATCCACGAGATGGA	0.512													12	30					0	0	0	0	T	25272805	C	T	25272805	3	4	364	1	0	0	0	0	1	0	0	0	1126	594	21	4	1586	4	ATP12A	13	25272805	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	377581	25272805	89897073	1384	70313											
ATP8A2	51761	broad.mit.edu	37	chr13	26411409	26411409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatcacccagaatggcgaaGgcttcaacacaaaggtaaac	18	5	8	10	1	2	1	2	0	0	1	2	2	2	1	1	3	2	2	1	3	7	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:26411409G>A	ENST00000381655.2	+	29	3005	c.2863G>A	c.(2863-2865)Ggc>Agc	p.G955S	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.G890S	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	915					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GAATGGCGAAGGCTTCAACAC	0.493													19	69					0	0	0	0	A	26411409	G	A	26411409	3	1	364	1	0	0	0	0	1	0	0	0	1197	1000	35	4	2977	4	ATP8A2	13	26411409	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1138604	26411409	88758469	1385	70314											
WASF3	10810	broad.mit.edu	37	chr13	27256961	27256961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccgccacccccgggcccaCcacctcccccgccaggccct	4	2	7	28	3	0	0	0	0	0	0	1	0	1	0	12	2	0	0	12	2	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:27256961C>T	ENST00000361042.4	+	9	1417	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	WASF3_ENST00000335327.5_Missense_Mutation_p.P401S			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	401	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCGGGCCCACCACCTCCCCC	0.706													20	46					0	0	0	0	T	27256961	C	T	27256961	3	4	364	1	0	0	0	0	1	0	0	0	17350	507	18	4	1227	4	WASF3	13	27256961	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	845552	27256961	87912917	1386	70315											
MTUS2	23281	broad.mit.edu	37	chr13	29599353	29599353	+	Missense_Mutation	SNP	G	G	A																															ccttgacaatgaggaactgaGgaggcattctttggaaagag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:29599353G>A	ENST00000431530.3	+	1	606	c.548G>A	c.(547-549)aGg>aAg	p.R183K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	173						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAGGAACTGAGGAGGCATTCT	0.542													14	73					0	0	0	0	A	29599353	G	A	29599353	3	1	364	1	0	0	0	0	1	0	0	0	10036	1000	35	4	550	4	MTUS2	13	29599353	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2342392	29599353	85570525	1387	70316	926	2									
MTUS2	23281	broad.mit.edu	37	chr13	29599354	29599354	+	Silent	SNP	G	G	A																															cttgacaatgaggaactgagGaggcattctttggaaagagc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:29599354G>A	ENST00000431530.3	+	1	607	c.549G>A	c.(547-549)agG>agA	p.R183R		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	173						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGGAACTGAGGAGGCATTCTT	0.547													14	73					0	0	0	0	A	29599354	G	A	29599354	2	1	364	1	0	0	0	0	0	0	0	1	10036	1165	41	2		2	MTUS2	13	29599354	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	29599354	85570524	1388	70317	926	2									
FRY	10129	broad.mit.edu	37	chr13	32776527	32776527	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttttgtatactcaaagaAagtcgctgagcaaagaccgg	13	10	10	8	2	1	3	1	1	0	2	2	3	1	3	1	1	2	4	1	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:32776527A>G	ENST00000380250.3	+	31	4377	c.3881A>G	c.(3880-3882)aAa>aGa	p.K1294R		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TACTCAAAGAAAGTCGCTGAG	0.443													17	87					0	0	0	0	G	32776527	A	G	32776527	3	3	364	1	0	0	0	0	1	0	0	0	6111	14	1	5	4003	5	FRY	13	32776527	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	3177173	32776527	82393351	1389	70318											
FRY	10129	broad.mit.edu	37	chr13	32805375	32805375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaatcaaaattcaaagaGtgctgaacagctcactaatt	19	10	5	7	0	3	2	3	1	0	1	3	2	3	2	0	0	3	2	0	0	8	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:32805375G>A	ENST00000380250.3	+	41	5961	c.5465G>A	c.(5464-5466)aGt>aAt	p.S1822N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AATTCAAAGAGTGCTGAACAG	0.353													18	51					0	0	0	0	A	32805375	G	A	32805375	3	1	364	1	0	0	0	0	1	0	0	0	6111	1029	36	4	5627	4	FRY	13	32805375	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	28848	32805375	82364503	1390	70319											
N4BP2L2	10443	broad.mit.edu	37	chr13	33016575	33016575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttactaattgaaaggcaaacCcttgtgataatggtagctca	14	12	8	7	0	1	2	1	2	0	0	1	2	1	2	1	2	3	3	1	2	6	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:33016575C>T	ENST00000357505.6	-	7	2158	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E	N4BP2L2_ENST00000399396.3_Missense_Mutation_p.G700E|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.G685E|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.G603E	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AAAGGCAAACCCTTGTGATAA	0.398													6	20					0	0	0	0	T	33016575	C	T	33016575	3	4	364	1	0	0	0	0	1	0	0	0	10182	623	22	4	171	4	N4BP2L2	13	33016575	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	211200	33016575	82153303	1391	70320											
NBEA	26960	broad.mit.edu	37	chr13	35622772	35622772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaacacttggtttcgtatgGatccattaaataatattaat	15	16	5	5	1	0	0	0	0	0	0	2	1	1	1	1	2	1	2	1	2	8	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:35622772G>A	ENST00000540320.1	+	5	1330	c.796G>A	c.(796-798)Gat>Aat	p.D266N	NBEA_ENST00000400445.3_Missense_Mutation_p.D266N|NBEA_ENST00000379939.2_Missense_Mutation_p.D266N|NBEA_ENST00000310336.4_Missense_Mutation_p.D266N			Q8NFP9	NBEA_HUMAN	neurobeachin	266						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTTTCGTATGGATCCATTAAA	0.318													11	16					0	0	0	0	A	35622772	G	A	35622772	3	1	364	1	0	0	0	0	1	0	0	0	10257	1174	41	2	814	2	NBEA	13	35622772	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2606197	35622772	79547106	1392	70321											
SMAD9	4093	broad.mit.edu	37	chr13	37446912	37446912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggagggagtgcagagcacgGaggctgctggaaagagtcag	11	4	20	6	1	1	2	1	0	0	2	1	6	1	6	0	5	3	4	0	5	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:37446912G>A	ENST00000379826.4	-	3	895	c.553C>T	c.(553-555)Ccg>Tcg	p.P185S	SMAD9_ENST00000350148.5_Missense_Mutation_p.P185S|SMAD9_ENST00000399275.2_Missense_Mutation_p.P185S	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	185					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCAGAGCACGGAGGCTGCTGG	0.647													12	41					0	0	0	0	A	37446912	G	A	37446912	3	1	364	1	0	0	0	0	1	0	0	0	14852	1174	41	2	870	2	SMAD9	13	37446912	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1824140	37446912	77722966	1393	70322											
POSTN	10631	broad.mit.edu	37	chr13	38160276	38160276	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaagacattaaactacCttcggaagccactttgtctc	13	11	7	10	1	1	3	0	1	1	2	3	4	1	4	2	1	3	0	2	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:38160276C>T	ENST00000379747.4	-	7	1012	c.895_splice	c.e7+1	p.A299_splice	POSTN_ENST00000541179.1_Splice_Site_p.A299_splice|POSTN_ENST00000379742.4_Splice_Site_p.A299_splice|POSTN_ENST00000379743.4_Splice_Site_p.A299_splice|POSTN_ENST00000379749.4_Splice_Site_p.A299_splice|POSTN_ENST00000541481.1_Splice_Site_p.A299_splice	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	299	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATTAAACTACCTTCGGAAGCC	0.418													33	61					0	0	0	0	T	38160276	C	T	38160276	5	4	364	1	0	0	0	0	0	0	1	0	12331	695	24	4	1683	4	POSTN	13	38160276	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	713364	38160276	77009602	1394	70323											
MTRF1	9617	broad.mit.edu	37	chr13	41826834	41826834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgccagtgtttatagcacGaataattctggtacatgtca	12	14	8	7	1	2	0	1	0	1	0	2	1	2	0	1	1	3	3	1	1	5	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:41826834G>A	ENST00000379480.4	-	5	744	c.644C>T	c.(643-645)tCg>tTg	p.S215L	MTRF1_ENST00000379477.1_Missense_Mutation_p.S215L|MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000430347.2_Missense_Mutation_p.S228L	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	215					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TTTATAGCACGAATAATTCTG	0.333													12	29					0	0	0	0	A	41826834	G	A	41826834	3	1	364	1	0	0	0	0	1	0	0	0	10029	1059	37	1	717	1	MTRF1	13	41826834	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3666558	41826834	73343044	1395	70324											
DGKH	160851	broad.mit.edu	37	chr13	42733462	42733462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaataactgtaaatggaCtaccctggcctccatcggga	14	8	8	11	1	0	0	0	0	0	0	2	2	1	2	3	3	3	1	3	3	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:42733462C>T	ENST00000379274.2	+	6	704	c.275C>T	c.(274-276)aCt>aTt	p.T92I	DGKH_ENST00000538674.1_Intron|DGKH_ENST00000337343.4_Missense_Mutation_p.T228I|DGKH_ENST00000536612.1_Missense_Mutation_p.T92I|DGKH_ENST00000540693.1_Missense_Mutation_p.T228I|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.4_Missense_Mutation_p.T228I			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	228	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGTAAATGGACTACCCTGGCC	0.398													5	22					0	0	0	0	T	42733462	C	T	42733462	3	4	364	1	0	0	0	0	1	0	0	0	4507	565	20	4	705	4	DGKH	13	42733462	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	906628	42733462	72436416	1396	70325											
SPERT	220082	broad.mit.edu	37	chr13	46287594	46287594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaactgccgcctgcagtctcCctacttctccccatccgcct	5	10	6	20	2	2	0	0	0	2	0	5	1	3	0	7	0	4	1	7	0	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:46287594C>T	ENST00000378966.3	+	2	742	c.326C>T	c.(325-327)cCc>cTc	p.P109L	SPERT_ENST00000310521.1_Missense_Mutation_p.P145L			Q8NA61	SPERT_HUMAN	spermatid associated	145						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CTGCAGTCTCCCTACTTCTCC	0.617													12	49					0	0	0	0	T	46287594	C	T	46287594	3	4	364	1	0	0	0	0	1	0	0	0	15129	623	22	4	444	4	SPERT	13	46287594	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3554132	46287594	68882284	1397	70326											
SIAH3	283514	broad.mit.edu	37	chr13	46357846	46357846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaagtggtggccaaggcagGagtgcatgatgatccaatca	13	7	14	7	0	1	2	1	2	0	0	2	4	2	3	2	4	1	2	2	4	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:46357846G>A	ENST00000400405.2	-	2	588	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	161					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GCCAAGGCAGGAGTGCATGAT	0.597													7	23					0	0	0	0	A	46357846	G	A	46357846	3	1	364	1	0	0	0	0	1	0	0	0	14389	1174	41	2	331	2	SIAH3	13	46357846	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	70252	46357846	68812032	1398	70327											
LCP1	3936	broad.mit.edu	37	chr13	46701838	46701838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acactcttgctccaatttttCgggccatagagatggcatat	10	13	8	10	1	1	1	0	0	1	1	3	2	2	1	2	2	1	2	2	2	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:46701838C>T	ENST00000398576.2	-	19	2160	c.1772G>A	c.(1771-1773)cGa>cAa	p.R591Q	LCP1_ENST00000323076.2_Missense_Mutation_p.R591Q|LCP1_ENST00000435666.2_Missense_Mutation_p.R160Q			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	591	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCCAATTTTTCGGGCCATAGA	0.488			T	BCL6	NHL								30	130					0	0	0	0	T	46701838	C	T	46701838	3	4	364	1	0	0	0	0	1	0	0	0	8744	884	31	1	115	1	LCP1	13	46701838	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	343992	46701838	68468040	1399	70328											
KPNA3	3839	broad.mit.edu	37	chr13	50285056	50285056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttcctgatggctcagaaGgggcacaagaaagggcacaa	14	5	13	9	0	1	3	1	1	0	2	2	4	2	3	1	4	0	3	1	4	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:50285056G>A	ENST00000261667.3	-	11	1288	c.874C>T	c.(874-876)Ctt>Ttt	p.L292F		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	292					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TGGCTCAGAAGGGGCACAAGA	0.378													12	38					0	0	0	0	A	50285056	G	A	50285056	3	1	364	1	0	0	0	0	1	0	0	0	8483	1000	35	4	719	4	KPNA3	13	50285056	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3583218	50285056	64884822	1400	70329											
KPNA3	3839	broad.mit.edu	37	chr13	50299560	50299560	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatttacttactagactgcAcaacagcttgagtctgtgca	12	12	8	9	0	1	2	0	1	1	1	1	3	1	2	0	0	6	3	0	0	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:50299560A>C	ENST00000261667.3	-	7	875	c.461T>G	c.(460-462)gTg>gGg	p.V154G		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	154	NLS binding site (major) (By similarity).			V -> G (in Ref. 3; AAB87693).	interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		ACTAGACTGCACAACAGCTTG	0.338													8	36					0	0	0	0	C	50299560	A	C	50299560	3	2	364	1	0	0	0	0	1	0	0	0	8483	159	6	5	1148	5	KPNA3	13	50299560	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	14504	50299560	64870318	1401	70330											
FAM124A	220108	broad.mit.edu	37	chr13	51826338	51826338	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaacaagatcctcctacagGtactggggggacgcctgtct	9	8	13	11	1	1	1	0	0	1	1	3	3	3	3	3	5	3	1	3	5	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:51826338G>A	ENST00000322475.8	+	3	969		c.e3+1		FAM124A_ENST00000280057.6_Splice_Site	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCTCCTACAGGTACTGGGGGG	0.562													7	17					0	0	0	0	A	51826338	G	A	51826338	5	1	364	1	0	0	0	0	0	0	1	0	5466	1275	44	4	957	4	FAM124A	13	51826338	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1526778	51826338	63343540	1402	70331											
TDRD3	81550	broad.mit.edu	37	chr13	61102891	61102891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcagatcaggaaaaggtcCctcctttgcagaggcaaaag	15	6	11	9	0	1	2	1	0	0	2	3	3	3	3	2	3	2	3	2	3	5	1	rs138120427		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:61102891C>T	ENST00000196169.3	+	11	2041	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	TDRD3_ENST00000535286.1_Missense_Mutation_p.P511L|TDRD3_ENST00000377894.2_Missense_Mutation_p.P418L|TDRD3_ENST00000377881.2_Missense_Mutation_p.P418L	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	418					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GGAAAAGGTCCCTCCTTTGCA	0.363													15	75					0	0	0	0	T	61102891	C	T	61102891	3	4	364	1	0	0	0	0	1	0	0	0	15826	623	22	4	1574	4	TDRD3	13	61102891	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	9276553	61102891	54066987	1403	70332											
PCDH20	64881	broad.mit.edu	37	chr13	61986527	61986527	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccagaaaatatgaaacttGgcctctctcctcgctgtcgg	9	11	8	13	2	1	2	0	1	1	1	6	2	3	2	3	2	1	1	3	2	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:61986527G>A	ENST00000409186.1	-	5	3810	c.1705C>T	c.(1705-1707)Caa>Taa	p.Q569*	PCDH20_ENST00000409204.4_Nonsense_Mutation_p.Q569*			Q8N6Y1	PCD20_HUMAN	protocadherin 20	542	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TATGAAACTTGGCCTCTCTCC	0.443													19	83					0	0	0	0	A	61986527	G	A	61986527	4	1	364	1	0	0	0	0	0	1	0	0	11586	1357	47	4	1154	4	PCDH20	13	61986527	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	883636	61986527	53183351	1404	70333											
PIBF1	10464	broad.mit.edu	37	chr13	73401257	73401257	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagtgaattatcaaaagagGtaagcttataattagagtca	18	11	9	3	0	2	3	2	1	0	2	2	4	2	3	0	1	1	2	0	1	9	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:73401257G>A	ENST00000326291.6	+	7	1253		c.e7+1			NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1							centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		ATCAAAAGAGGTAAGCTTATA	0.313													12	31					0	0	0	0	A	73401257	G	A	73401257	5	1	364	1	0	0	0	0	0	0	1	0	11951	1275	44	4	938	4	PIBF1	13	73401257	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	11414730	73401257	41768621	1405	70334											
KLF12	11278	broad.mit.edu	37	chr13	74420074	74420074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaccgactgtaccaccacgGggatgcggtgaacatgactc	10	6	12	13	3	0	2	0	2	0	0	1	4	0	3	3	3	3	2	3	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:74420074G>A	ENST00000377669.2	-	3	586	c.560C>T	c.(559-561)cCc>cTc	p.P187L	KLF12_ENST00000377666.4_Missense_Mutation_p.P187L|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	187					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TACCACCACGGGGATGCGGTG	0.507													18	67					0	0	0	0	A	74420074	G	A	74420074	3	1	364	1	0	0	0	0	1	0	0	0	8392	1232	43	4	668	4	KLF12	13	74420074	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1018817	74420074	40749804	1406	70335											
TBC1D4	9882	broad.mit.edu	37	chr13	75898414	75898414	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggacagtctacctgaattCtggtaaaagcttttcaggaa	12	11	11	7	0	3	1	1	1	2	0	3	3	3	3	1	4	2	2	1	4	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:75898414C>T	ENST00000377636.3	-	11	2503	c.2157G>A	c.(2155-2157)caG>caA	p.Q719Q	TBC1D4_ENST00000377625.2_Intron|TBC1D4_ENST00000431480.2_Silent_p.Q719Q|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	719	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TACCTGAATTCTGGTAAAAGC	0.428													15	48					0	0	0	0	T	75898414	C	T	75898414	2	4	364	1	0	0	0	0	0	0	0	1	15716	912	32	2		2	TBC1D4	13	75898414	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1478340	75898414	39271464	1407	70336											
FBXL3	26224	broad.mit.edu	37	chr13	77581856	77581856	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcaagtaacaactcatcActcaataagtggtagttcag	16	10	7	8	0	4	0	4	0	0	0	4	0	4	0	0	1	3	4	0	1	7	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:77581856A>C	ENST00000355619.5	-	5	1035	c.711T>G	c.(709-711)agT>agG	p.S237R	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	237					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ACAACTCATCACTCAATAAGT	0.378													9	48					0	0	0	0	C	77581856	A	C	77581856	3	2	364	1	0	0	0	0	1	0	0	0	5765	156	6	5	579	5	FBXL3	13	77581856	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	1683442	77581856	37588022	1408	70337											
MYCBP2	23077	broad.mit.edu	37	chr13	77670523	77670523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ataccagataccaagtgcttCctcctatgccaccatcacca	12	9	4	16	0	1	1	1	0	0	1	3	1	3	1	7	0	4	1	7	0	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:77670523C>T	ENST00000407578.2	-	57	10144	c.9878G>A	c.(9877-9879)gGa>gAa	p.G3293E	MYCBP2_ENST00000357337.6_Missense_Mutation_p.G3255E|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G3255E|MYCBP2-AS1_ENST00000593933.1_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAAGTGCTTCCTCCTATGCC	0.463													28	73					0	0	0	0	T	77670523	C	T	77670523	3	4	364	1	0	0	0	0	1	0	0	0	10088	855	30	2	4266	2	MYCBP2	13	77670523	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	88667	77670523	37499355	1409	70338											
SLAIN1	122060	broad.mit.edu	37	chr13	78335135	78335135	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacacaggaatccccacaccGaacaaagctgcagcttctgg	14	5	8	14	1	1	0	0	0	1	0	2	2	2	1	3	2	5	3	3	2	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:78335135G>A	ENST00000466548.1	+	7	1547	c.1521G>A	c.(1519-1521)ccG>ccA	p.P507P	SLAIN1_ENST00000314070.5_Silent_p.P130P|SLAIN1_ENST00000267219.8_Silent_p.P288P|SLAIN1_ENST00000351546.3_Silent_p.P244P|SLAIN1_ENST00000358679.3_Silent_p.P244P|SLAIN1_ENST00000418532.1_Silent_p.P288P|SLAIN1_ENST00000488699.1_Silent_p.P365P	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	507										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TCCCCACACCGAACAAAGCTG	0.488													19	60					0	0	0	0	A	78335135	G	A	78335135	2	1	364	1	0	0	0	0	0	0	0	1	14453	1045	37	1		1	SLAIN1	13	78335135	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	664612	78335135	36834743	1410	70339											
EDNRB	1910	broad.mit.edu	37	chr13	78477474	78477474	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaattcctttaattctactCcaagaagcaacagctcgata	14	11	4	12	1	1	1	0	0	1	1	4	2	3	1	3	0	4	2	3	0	7	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:78477474C>T	ENST00000377211.4	-	4	1040	c.888G>A	c.(886-888)tgG>tgA	p.W296*	EDNRB_ENST00000446573.1_Nonsense_Mutation_p.W206*|EDNRB_ENST00000334286.5_Nonsense_Mutation_p.W206*	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	206					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TAATTCTACTCCAAGAAGCAA	0.368													24	132					0	0	0	0	T	78477474	C	T	78477474	4	4	364	1	0	0	0	0	0	1	0	0	4956	856	30	2	851	2	EDNRB	13	78477474	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	142339	78477474	36692404	1411	70340											
RNF219	79596	broad.mit.edu	37	chr13	79191069	79191069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctccctttgccatctgcaGaaagtgctgtctggcaaatg	8	12	10	11	0	2	1	0	0	2	1	3	1	3	1	2	1	4	4	2	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:79191069G>A	ENST00000282003.6	-	6	885	c.827C>T	c.(826-828)tCt>tTt	p.S276F	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	276							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GCCATCTGCAGAAAGTGCTGT	0.443													41	48					0	0	0	0	A	79191069	G	A	79191069	3	1	364	1	0	0	0	0	1	0	0	0	13567	942	33	2	1357	2	RNF219	13	79191069	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	713595	79191069	35978809	1412	70341											
SPRY2	10253	broad.mit.edu	37	chr13	80911432	80911432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaggagaaggatgatcCtagcagtctctgttcagagg	10	8	14	9	1	2	3	1	1	1	2	4	6	3	5	2	4	1	2	2	4	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:80911432C>T	ENST00000377102.1	-	2	1386	c.409G>A	c.(409-411)Gga>Aga	p.G137R	SPRY2_ENST00000540649.1_Missense_Mutation_p.G137R|SPRY2_ENST00000377104.3_Missense_Mutation_p.G137R			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	137					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		AAGGATGATCCTAGCAGTCTC	0.562													14	54					0	0	0	0	T	80911432	C	T	80911432	3	4	364	1	0	0	0	0	1	0	0	0	15196	690	24	4	542	4	SPRY2	13	80911432	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1720363	80911432	34258446	1413	70342											
DCT	1638	broad.mit.edu	37	chr13	95118002	95118002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcacactcgttcctccCagtggcaaagttccagtagg	10	9	8	14	1	1	0	1	0	0	0	5	0	4	0	3	2	0	4	3	2	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:95118002C>A	ENST00000377028.5	-	4	1161	c.748G>T	c.(748-750)Ggg>Tgg	p.G250W	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.G250W	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	250					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCGTTCCTCCCAGTGGCAAAG	0.498													17	42					0.0332995	0.0334975	1	0	A	95118002	C	A	95118002	3	1	364	1	0	0	0	0	1	0	0	0	4336	594	21	4	938	4	DCT	13	95118002	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	14206570	95118002	20051876	1414	70343											
DNAJC3	5611	broad.mit.edu	37	chr13	96416196	96416196	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctatttgatagaggaaaTgtatgatgaaggtaaatctt	14	13	11	3	0	1	4	0	3	1	1	1	5	1	5	1	3	0	2	1	3	7	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:96416196T>G	ENST00000602402.1	+	9	1181	c.1064T>G	c.(1063-1065)aTg>aGg	p.M355R	DNAJC3_ENST00000376795.6_Missense_Mutation_p.M304R	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	355					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATAGAGGAAATGTATGATGAA	0.353													29	49					0	0	0	0	G	96416196	T	G	96416196	3	3	364	1	0	0	0	0	1	0	0	0	4683	1464	51	5	1098	5	DNAJC3	13	96416196	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1298194	96416196	18753682	1415	70344											
FAM155A	728215	broad.mit.edu	37	chr13	108518049	108518049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttacagtcttcaggacagGatttcaccgagtactcctcc	9	11	7	14	1	3	0	2	0	1	0	5	3	5	2	4	2	2	1	4	2	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:108518049G>A	ENST00000375915.2	-	1	1034	c.896C>T	c.(895-897)tCc>tTc	p.S299F		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	299						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTCAGGACAGGATTTCACCGA	0.473													20	68					0	0	0	0	A	108518049	G	A	108518049	3	1	364	1	0	0	0	0	1	0	0	0	5506	1174	41	2	492	2	FAM155A	13	108518049	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	12101853	108518049	6651829	1416	70345											
MYO16	23026	broad.mit.edu	37	chr13	109459108	109459108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagacctcaacatagtagatGatcagtactggactcccctc	12	9	8	12	0	2	3	2	1	0	2	4	5	3	4	3	1	2	2	3	1	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:109459108G>A	ENST00000356711.2	+	7	883	c.757G>A	c.(757-759)Gat>Aat	p.D253N	MYO16_ENST00000357550.2_Missense_Mutation_p.D253N|MYO16_ENST00000251041.5_Missense_Mutation_p.D253N	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	253					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CATAGTAGATGATCAGTACTG	0.418													21	48					0	0	0	0	A	109459108	G	A	109459108	3	1	364	1	0	0	0	0	1	0	0	0	10134	1290	45	2	779	2	MYO16	13	109459108	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	941059	109459108	5710770	1417	70346											
CARKD	55739	broad.mit.edu	37	chr13	111290678	111290678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtagctgcggcccccggaCcacgacgcccacttccccac	6	4	11	20	4	0	0	0	0	0	0	1	2	1	1	6	3	2	2	6	3	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:111290678C>A	ENST00000309957.2	+	10	997	c.983C>A	c.(982-984)aCc>aAc	p.T328N	CARKD_ENST00000424185.2_Intron|CARKD_ENST00000458711.2_Intron|CARKD_ENST00000470164.2_Intron	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	0	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						GGCCCCCGGACCACGACGCCC	0.607													24	128					7.38237e-10	7.54401e-10	1	0	A	111290678	C	A	111290678	3	1	364	1	0	0	0	0	1	0	0	0	2679	507	18	4	1021	4	CARKD	13	111290678	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1831570	111290678	3879200	1418	70347											
F10	2159	broad.mit.edu	37	chr13	113783849	113783849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagagatgaagaaaggaCacctcgaaagagagtgcatg	17	6	13	5	1	0	5	0	2	0	3	1	9	0	6	1	1	1	1	1	1	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:113783849C>A	ENST00000375559.3	+	2	192	c.154C>A	c.(154-156)Cac>Aac	p.H52N	F10_ENST00000483537.1_3'UTR|F10_ENST00000409306.1_Missense_Mutation_p.H52N|F10_ENST00000375551.3_Missense_Mutation_p.H52N	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	52	Gla.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGAAAGGACACCTCGAAAG	0.567													18	65					5.3912e-06	5.46796e-06	1	0	A	113783849	C	A	113783849	3	1	364	1	0	0	0	0	1	0	0	0	5374	478	17	4	160	4	F10	13	113783849	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2493171	113783849	1386029	1419	70348											
PCID2	55795	broad.mit.edu	37	chr13	113852537	113852537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaaacatttcatcataaggGggttccaagacttgttgaca	13	11	9	8	0	2	2	2	1	0	1	3	2	3	2	1	2	1	3	1	2	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:113852537G>A	ENST00000375457.2	-	3	758	c.162C>T	c.(160-162)ccC>ccT	p.P54P	PCID2_ENST00000351317.3_Silent_p.P56P|PCID2_ENST00000375477.1_Silent_p.P56P|PCID2_ENST00000337344.4_Silent_p.P56P|PCID2_ENST00000246505.5_Silent_p.P56P|PCID2_ENST00000375479.2_Silent_p.P56P|PCID2_ENST00000375459.1_Silent_p.P54P	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	56					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CATCATAAGGGGGTTCCAAGA	0.368													22	144					0	0	0	0	A	113852537	G	A	113852537	2	1	364	1	0	0	0	0	0	0	0	1	11650	1219	43	4		4	PCID2	13	113852537	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	68688	113852537	1317341	1420	70349											
POTEG	404785	broad.mit.edu	37	chr14	19553775	19553775	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagagcaaagtgggcccttGgggagactacgacgacagcg	12	4	15	10	3	0	2	0	0	0	2	0	5	0	2	1	3	3	1	1	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:19553775G>C	ENST00000409832.3	+	1	411	c.359G>C	c.(358-360)tGg>tCg	p.W120S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	120								p.W120L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GTGGGCCCTTGGGGAGACTAC	0.602													54	680					0	0	0	0	C	19553775	G	C	19553775	3	2	364	1	0	0	0	0	1	0	0	0	12338	1357	47	4	361	4	POTEG	14	19553775	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08		19553775	87795765	1421	70350											
OR4K2	390431	broad.mit.edu	37	chr14	20344870	20344870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctctcgtggtggcttcCtggattatgggagttatgca	5	15	14	7	1	1	0	0	0	1	0	3	2	2	2	1	4	2	5	1	4	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20344870C>T	ENST00000298642.2	+	1	480	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	148					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)		TGGTGGCTTCCTGGATTATGG	0.468													46	246					0	0	0	0	T	20344870	C	T	20344870	2	4	364	1	0	0	0	0	0	0	0	1	11143	668	24	4		4	OR4K2	14	20344870	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	791095	20344870	87004670	1422	70351											
OR4K15	81127	broad.mit.edu	37	chr14	20443771	20443771	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgagacaaatcattctCgggtgacagaatttgtgttg	12	13	11	5	1	2	4	1	3	1	2	3	5	2	4	0	1	0	1	0	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20443771C>A	ENST00000305051.5	+	1	169	c.94C>A	c.(94-96)Cgg>Agg	p.R32R		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAATCATTCTCGGGTGACAGA	0.403													46	91					8.00217e-19	8.29957e-19	1	0	A	20443771	C	A	20443771	2	1	364	1	0	0	0	0	0	0	0	1	11141	875	31	3		3	OR4K15	14	20443771	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	98901	20443771	86905769	1423	70352											
OR4K15	81127	broad.mit.edu	37	chr14	20443795	20443795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacagaatttgtgttgctgGgactgtctagttcaagggag	9	13	14	5	0	2	2	1	1	1	1	2	4	2	4	0	2	1	3	0	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20443795G>A	ENST00000305051.5	+	1	193	c.118G>A	c.(118-120)Gga>Aga	p.G40R		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGTTGCTGGGACTGTCTAG	0.403													61	119					0	0	0	0	A	20443795	G	A	20443795	3	1	364	1	0	0	0	0	1	0	0	0	11141	1233	43	4	120	4	OR4K15	14	20443795	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	24	20443795	86905745	1424	70353											
OR4K15	81127	broad.mit.edu	37	chr14	20444538	20444538	+	Missense_Mutation	SNP	C	C	A																															atctatgtgtggcccttcagCagttactcagttgacaaagt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20444538C>A	ENST00000305051.5	+	1	936	c.861C>A	c.(859-861)agC>agA	p.S287R		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCCCTTCAGCAGTTACTCAG	0.448													25	77					1.30897e-18	1.3571e-18	1	0	A	20444538	C	A	20444538	3	1	364	1	0	0	0	0	1	0	0	0	11141	709	25	4	863	4	OR4K15	14	20444538	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	743	20444538	86905002	1425	70354	927	2									
OR4K15	81127	broad.mit.edu	37	chr14	20444539	20444539	+	Missense_Mutation	SNP	A	A	G																															tctatgtgtggcccttcagcAgttactcagttgacaaagtc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20444539A>G	ENST00000305051.5	+	1	937	c.862A>G	c.(862-864)Agt>Ggt	p.S288G		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCCTTCAGCAGTTACTCAGT	0.448													23	75					0	0	0	0	G	20444539	A	G	20444539	3	3	364	1	0	0	0	0	1	0	0	0	11141	188	7	5	864	5	OR4K15	14	20444539	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	1	20444539	86905001	1426	70355	927	2									
OR4K14	122740	broad.mit.edu	37	chr14	20482421	20482421	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactatggaaggctggatttCattgaaaagtcacccgtcgg	11	10	11	9	2	2	1	2	1	0	0	3	3	2	3	1	4	0	1	1	4	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20482421C>T	ENST00000305045.2	-	1	931	c.932G>A	c.(931-933)tGa>tAa	p.*311*		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCTGGATTTCATTGAAAAGT	0.353													58	135					0	0	0	0	T	20482421	C	T	20482421	2	4	364	1	0	0	0	0	0	0	0	1	11140	840	29	2		2	OR4K14	14	20482421	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	37882	20482421	86867119	1427	70356											
OR4K14	122740	broad.mit.edu	37	chr14	20482831	20482831	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaagaagctgtctacCtcattggggccacagtaagg	12	8	11	10	0	3	2	2	0	1	2	3	2	3	2	2	3	2	2	2	3	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20482831C>T	ENST00000305045.2	-	1	521	c.522G>A	c.(520-522)gaG>gaA	p.E174E		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGCTGTCTACCTCATTGGGGC	0.483													20	44					0	0	0	0	T	20482831	C	T	20482831	2	4	364	1	0	0	0	0	0	0	0	1	11140	680	24	4		4	OR4K14	14	20482831	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	410	20482831	86866709	1428	70357											
OR4K13	390433	broad.mit.edu	37	chr14	20502834	20502834	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaccacagagaatcccaaGaagaataaaatctgaagatt	21	6	7	7	0	1	6	0	1	1	5	2	7	2	6	2	0	0	0	2	0	8	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20502834G>A	ENST00000315693.2	-	1	85	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGAATCCCAAGAAGAATAAAA	0.403													14	43					0	0	0	0	A	20502834	G	A	20502834	2	1	364	1	0	0	0	0	0	0	0	1	11139	933	33	2		2	OR4K13	14	20502834	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	20003	20502834	86846706	1429	70358											
TEP1	7011	broad.mit.edu	37	chr14	20845880	20845880	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggaacccaggtgcccacgGggccgacccagagaccctga	10	2	14	15	2	0	2	0	1	0	1	0	5	0	3	5	4	2	0	5	4	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20845880G>A	ENST00000262715.5	-	40	5794	c.5754C>T	c.(5752-5754)ccC>ccT	p.P1918P	TEP1_ENST00000556935.1_Silent_p.P1810P|TEP1_ENST00000545983.1_Silent_p.P256P	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1918					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGTGCCCACGGGGCCGACCCA	0.577													14	70					0	0	0	0	A	20845880	G	A	20845880	2	1	364	1	0	0	0	0	0	0	0	1	15853	1219	43	4		4	TEP1	14	20845880	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	343046	20845880	86503660	1430	70359											
TPPP2	122664	broad.mit.edu	37	chr14	21499262	21499262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaagggaagagtccagatGaagtcctggagaacatttat	15	9	11	6	0	1	4	1	1	0	3	3	6	3	5	2	2	1	0	2	2	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:21499262G>A	ENST00000321760.6	+	3	413	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	TPPP2_ENST00000460647.2_Missense_Mutation_p.E89K|NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.E89K	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	89						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GAGTCCAGATGAAGTCCTGGA	0.537													11	70					0	0	0	0	A	21499262	G	A	21499262	3	1	364	1	0	0	0	0	1	0	0	0	16509	1291	45	2	271	2	TPPP2	14	21499262	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	653382	21499262	85850278	1431	70360											
MMP14	4323	broad.mit.edu	37	chr14	23312536	23312536	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagcattccagtgacccCtcggccatcatggcaccctt	7	9	8	17	2	1	1	1	1	0	0	4	2	2	1	5	2	1	2	5	2	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23312536C>T	ENST00000311852.6	+	5	1020	c.759C>T	c.(757-759)ccC>ccT	p.P253P	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	253						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CCAGTGACCCCTCGGCCATCA	0.577													23	79					0	0	0	0	T	23312536	C	T	23312536	2	4	364	1	0	0	0	0	0	0	0	1	9722	668	24	4		4	MMP14	14	23312536	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1813274	23312536	84037004	1432	70361											
RBM23	55147	broad.mit.edu	37	chr14	23374831	23374831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacctgactgggctcttctCtctgaaatgaggactcttac	8	12	8	13	0	4	3	0	3	4	0	5	4	4	4	2	2	1	1	2	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23374831C>T	ENST00000359890.3	-	6	634	c.439G>A	c.(439-441)Gag>Aag	p.E147K	RBM23_ENST00000399922.2_Missense_Mutation_p.E131K|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000346528.5_Intron|RBM23_ENST00000555209.1_Intron	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	147					mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GGGCTCTTCTCTCTGAAATGA	0.383													26	78					0	0	0	0	T	23374831	C	T	23374831	3	4	364	1	0	0	0	0	1	0	0	0	13205	922	32	2	916	2	RBM23	14	23374831	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	62295	23374831	83974709	1433	70362											
C14orf93	60686	broad.mit.edu	37	chr14	23465357	23465357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcttggttccattttctgGtcctgtctctggggttgccc	2	16	11	12	0	2	0	0	0	2	0	5	0	4	0	3	4	2	3	3	4	0	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23465357G>A	ENST00000299088.6	-	3	1147	c.718C>T	c.(718-720)Cca>Tca	p.P240S	C14orf93_ENST00000397382.4_Missense_Mutation_p.P240S|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.P240S|C14orf93_ENST00000397377.1_Missense_Mutation_p.P60S|C14orf93_ENST00000341470.4_Missense_Mutation_p.P240S|C14orf93_ENST00000397379.3_Missense_Mutation_p.P240S	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	240						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CCATTTTCTGGTCCTGTCTCT	0.602													12	96					0	0	0	0	A	23465357	G	A	23465357	3	1	364	1	0	0	0	0	1	0	0	0	1794	1261	44	4	918	4	C14orf93	14	23465357	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	90526	23465357	83884183	1434	70363											
PABPN1	8106	broad.mit.edu	37	chr14	23793208	23793208	+	Missense_Mutation	SNP	G	G	A																															agttctcagacaaagagtcaGtgaggacttccttggcctta																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23793208G>A	ENST00000397276.2	+	5	689	c.676G>A	c.(676-678)Gtg>Atg	p.V226M	PABPN1_ENST00000557702.1_Missense_Mutation_p.V98M|PABPN1_ENST00000556821.1_Missense_Mutation_p.V98M|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.V253M|PABPN1_ENST00000216727.4_Missense_Mutation_p.V226M|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.V253M					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAAAGAGTCAGTGAGGACTTC	0.413													10	65					0	0	0	0	A	23793208	G	A	23793208	3	1	364	1	0	0	0	0	1	0	0	0	11439	1029	36	4	694	4	PABPN1	14	23793208	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	327851	23793208	83556332	1435	70364	928	2									
PABPN1	8106	broad.mit.edu	37	chr14	23793209	23793209	+	Missense_Mutation	SNP	T	T	A																															gttctcagacaaagagtcagTgaggacttccttggccttag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23793209T>A	ENST00000397276.2	+	5	690	c.677T>A	c.(676-678)gTg>gAg	p.V226E	PABPN1_ENST00000557702.1_Missense_Mutation_p.V98E|PABPN1_ENST00000556821.1_Missense_Mutation_p.V98E|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.V253E|PABPN1_ENST00000216727.4_Missense_Mutation_p.V226E|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.V253E					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AAAGAGTCAGTGAGGACTTCC	0.413													11	65					0	0	0	0	A	23793209	T	A	23793209	3	1	364	1	0	0	0	0	1	0	0	0	11439	1696	59	5	695	5	PABPN1	14	23793209	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1	23793209	83556331	1436	70365	928	2									
MYH6	4624	broad.mit.edu	37	chr14	23855233	23855233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctccaccacggcacgcagCtcctccagctcagcctgcag	7	6	9	19	2	1	0	1	0	0	0	4	0	4	0	5	1	5	6	5	1	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23855233C>T	ENST00000405093.3	-	34	5137	c.5067G>A	c.(5065-5067)gaG>gaA	p.E1689E	MYH6_ENST00000356287.3_Silent_p.E1689E	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1689					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGGCACGCAGCTCCTCCAGCT	0.642													12	33					0	0	0	0	T	23855233	C	T	23855233	2	4	364	1	0	0	0	0	0	0	0	1	10108	796	28	4		4	MYH6	14	23855233	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	62024	23855233	83494307	1437	70366											
DHRS4L2	317749	broad.mit.edu	37	chr14	24459498	24459498	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccacgctgcagggggAggggctgagcgtgacgggca	6	4	22	9	3	0	2	0	2	0	0	0	3	0	3	1	7	2	4	1	7	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24459498A>G	ENST00000335125.6	+	2	362	c.236A>G	c.(235-237)gAg>gGg	p.E79G	DHRS4L2_ENST00000382755.4_Missense_Mutation_p.E77G|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.E79G	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	51							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		CTGCAGGGGGAGGGGCTGAGC	0.687													3	64					0	0	0	0	G	24459498	A	G	24459498	3	3	364	1	0	0	0	0	1	0	0	0	4531	304	11	5	242	5	DHRS4L2	14	24459498	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	604265	24459498	82890042	1438	70367											
REC8	9985	broad.mit.edu	37	chr14	24647314	24647314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaggaggcccccagtcccCccacctcctcgccgccgccg	5	3	10	23	4	0	1	0	0	0	1	3	2	2	2	10	2	0	0	10	2	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24647314C>T	ENST00000311457.3	+	13	1478	c.879C>T	c.(877-879)ccC>ccT	p.P293P	REC8_ENST00000559919.1_Silent_p.P293P			O95072	REC8_HUMAN	REC8 meiotic recombination protein	294	Glu-rich.|Pro-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCCCAGTCCCCCCACCTCCTC	0.612													10	67					0	0	0	0	T	24647314	C	T	24647314	2	4	364	1	0	0	0	0	0	0	0	1	13281	610	22	4		4	REC8	14	24647314	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	187816	24647314	82702226	1439	70368											
NYNRIN	57523	broad.mit.edu	37	chr14	24884780	24884780	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccctggaattggccctcctCcagggcctgctgggggagaa	6	7	15	13	0	0	1	0	0	0	1	2	3	2	2	5	5	1	1	5	5	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24884780C>T	ENST00000382554.3	+	9	4143	c.3825C>T	c.(3823-3825)ctC>ctT	p.L1275L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1275					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGGCCCTCCTCCAGGGCCTGC	0.632													23	74					0	0	0	0	T	24884780	C	T	24884780	2	4	364	1	0	0	0	0	0	0	0	1	10867	842	30	2		2	NYNRIN	14	24884780	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	237466	24884780	82464760	1440	70369											
KHNYN	23351	broad.mit.edu	37	chr14	24901080	24901080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagtgggcaggggccaggaGcactggcttcttgggagggg	6	7	20	8	0	1	0	0	0	1	0	1	2	1	2	1	8	1	3	1	8	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24901080G>A	ENST00000251343.5	+	3	752	c.613G>A	c.(613-615)Gca>Aca	p.A205T	KHNYN_ENST00000556842.1_Missense_Mutation_p.A205T|KHNYN_ENST00000553935.1_Missense_Mutation_p.A205T			O15037	KHNYN_HUMAN	KH and NYN domain containing	205										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GGGGCCAGGAGCACTGGCTTC	0.652											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	105					0	0	0	0	A	24901080	G	A	24901080	3	1	364	1	0	0	0	0	1	0	0	0	8201	971	34	4	619	4	KHNYN	14	24901080	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	16300	24901080	82448460	1441	70370											
G2E3	55632	broad.mit.edu	37	chr14	31071301	31071301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcatcacctaaattacccaGacagtcacctggatcccaga	13	8	6	14	0	3	2	3	0	0	2	4	3	4	3	4	1	1	0	4	1	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31071301G>A	ENST00000206595.6	+	10	1128	c.974G>A	c.(973-975)aGa>aAa	p.R325K	G2E3_ENST00000438909.2_Missense_Mutation_p.R279K|G2E3_ENST00000553504.1_Missense_Mutation_p.R355K|G2E3_ENST00000544007.1_3'UTR	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	325					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.R325K(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAATTACCCAGACAGTCACCT	0.348													26	44					0	0	0	0	A	31071301	G	A	31071301	3	1	364	1	0	0	0	0	1	0	0	0	6188	942	33	2	1008	2	G2E3	14	31071301	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6170221	31071301	76278239	1442	70371											
SCFD1	23256	broad.mit.edu	37	chr14	31185183	31185183	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagatgaagtcaaacccCgtgagtaccatataacatat	16	9	8	8	1	1	3	1	2	0	1	1	4	1	3	3	1	3	1	3	1	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31185183C>T	ENST00000458591.2	+	20	1910	c.1683_splice	c.e20+1	p.P561_splice	SCFD1_ENST00000544052.2_Splice_Site_p.P494_splice|SCFD1_ENST00000541123.1_Splice_Site_p.P376_splice|SCFD1_ENST00000421551.3_Splice_Site_p.P502_splice|SCFD1_ENST00000396629.2_Splice_Site_p.P469_splice	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	561					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AGTCAAACCCCGTGAGTACCA	0.328													9	86					0	0	0	0	T	31185183	C	T	31185183	5	4	364	1	0	0	0	0	0	0	1	0	13975	666	23	1	1761	1	SCFD1	14	31185183	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	113882	31185183	76164357	1443	70372											
COCH	1690	broad.mit.edu	37	chr14	31346827	31346827	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttggacatcaggaaagaGaaagcagatgtcctctgccc	12	7	12	10	0	2	2	1	0	1	2	3	5	3	4	2	3	2	2	2	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31346827G>A	ENST00000396618.3	+	4	188	c.132G>A	c.(130-132)gaG>gaA	p.E44E	COCH_ENST00000475087.1_Silent_p.E44E|COCH_ENST00000216361.4_Silent_p.E44E|COCH_ENST00000460581.2_5'UTR|RP11-829H16.3_ENST00000555108.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	44	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCAGGAAAGAGAAAGCAGATG	0.463													10	77					0	0	0	0	A	31346827	G	A	31346827	2	1	364	1	0	0	0	0	0	0	0	1	3686	933	33	2		2	COCH	14	31346827	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	161644	31346827	76002713	1444	70373											
HECTD1	25831	broad.mit.edu	37	chr14	31574596	31574596	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttaaaattacctctaaaGgcttccatttgtttctgaat	11	17	4	9	0	2	1	0	1	2	0	3	1	3	1	3	1	1	2	3	1	6	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31574596G>A	ENST00000399332.1	-	40	7880	c.7392C>T	c.(7390-7392)gcC>gcT	p.A2464A	HECTD1_ENST00000553700.1_Silent_p.A2464A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2464	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TACCTCTAAAGGCTTCCATTT	0.363													69	146					0	0	0	0	A	31574596	G	A	31574596	2	1	364	1	0	0	0	0	0	0	0	1	7089	987	35	4		4	HECTD1	14	31574596	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	227769	31574596	75774944	1445	70374											
AKAP6	9472	broad.mit.edu	37	chr14	33293542	33293542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccttgtttctctagtgctCctccaaatgaatctgcagtt	8	15	7	11	0	2	1	0	1	2	0	5	1	4	1	3	0	3	4	3	0	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:33293542C>T	ENST00000280979.4	+	13	6693	c.6523C>T	c.(6523-6525)Cct>Tct	p.P2175S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2175					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)		CTCTAGTGCTCCTCCAAATGA	0.468													7	36					0	0	0	0	T	33293542	C	T	33293542	3	4	364	1	0	0	0	0	1	0	0	0	455	855	30	2	6569	2	AKAP6	14	33293542	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1718946	33293542	74055998	1446	70375											
KIAA0391	9692	broad.mit.edu	37	chr14	35595980	35595980	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaggacaattcaccacagtCcgaaaaaggtgaagaccaat	19	5	8	9	1	1	2	1	1	0	1	2	4	2	3	3	2	0	0	3	2	6	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:35595980C>T	ENST00000557565.1	+	3	1407	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V	KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000250377.7_Silent_p.V247V|KIAA0391_ENST00000604948.1_Silent_p.V247V|KIAA0391_ENST00000534898.4_Silent_p.V342V|KIAA0391_ENST00000605870.1_5'UTR|KIAA0391_ENST00000603544.1_Intron|KIAA0391_ENST00000321130.10_Intron			O15091	MRRP3_HUMAN	KIAA0391	342					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCACCACAGTCCGAAAAAGGT	0.318													4	27					0	0	0	0	T	35595980	C	T	35595980	2	4	364	1	0	0	0	0	0	0	0	1	8223	842	30	2		2	KIAA0391	14	35595980	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2302438	35595980	71753560	1447	70376											
SLC25A21	89874	broad.mit.edu	37	chr14	37194875	37194875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagatcccaatccagcaatgGcgaatgtctagaaaaattaa	17	8	7	9	1	1	2	0	0	1	2	3	3	3	2	2	1	1	1	2	1	7	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:37194875G>A	ENST00000331299.5	-	6	853	c.338C>T	c.(337-339)gCc>gTc	p.A113V	SLC25A21_ENST00000555449.1_Missense_Mutation_p.A113V	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	113					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TCCAGCAATGGCGAATGTCTA	0.368													7	35					0	0	0	0	A	37194875	G	A	37194875	3	1	364	1	0	0	0	0	1	0	0	0	14572	1203	42	4	586	4	SLC25A21	14	37194875	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1598895	37194875	70154665	1448	70377											
RPL10L	140801	broad.mit.edu	37	chr14	47120888	47120888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcggcagaaacgagattttgGgtacggcttgttcttacaat	10	13	11	7	3	1	2	0	0	1	2	2	3	1	2	0	3	3	4	0	3	4	6	rs146301674		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:47120888G>A	ENST00000298283.3	-	1	140	c.52C>T	c.(52-54)Cca>Tca	p.P18S		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	18					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CGAGATTTTGGGTACGGCTTG	0.547													42	87					0	0	0	0	A	47120888	G	A	47120888	3	1	364	1	0	0	0	0	1	0	0	0	13641	1232	43	4	596	4	RPL10L	14	47120888	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	9926013	47120888	60228652	1449	70378											
C14orf37	145407	broad.mit.edu	37	chr14	58605578	58605578	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaatgggctgaaagttagTgcttgtaaggagttcctcct	10	13	11	7	0	0	1	0	1	0	0	2	2	2	2	2	2	2	5	2	2	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:58605578T>G	ENST00000267485.7	-	2	693	c.499A>C	c.(499-501)Act>Cct	p.T167P	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	167						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGAAAGTTAGTGCTTGTAAGG	0.408													4	38					0	0	0	0	G	58605578	T	G	58605578	3	3	364	1	0	0	0	0	1	0	0	0	1783	1696	59	5	1853	5	C14orf37	14	58605578	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	11484690	58605578	48743962	1450	70379											
ARID4A	5926	broad.mit.edu	37	chr14	58814436	58814436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgttcatcaccatgaacCaaaagtaaaagaggaaaaaa	22	6	6	7	0	2	2	2	1	0	1	2	3	2	3	2	1	2	2	2	1	9	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:58814436C>T	ENST00000355431.3	+	15	1617	c.1244C>T	c.(1243-1245)cCa>cTa	p.P415L	ARID4A_ENST00000395168.3_Missense_Mutation_p.P415L|ARID4A_ENST00000348476.3_Missense_Mutation_p.P415L|ARID4A_ENST00000431317.2_Missense_Mutation_p.P415L	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	415					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CACCATGAACCAAAAGTAAAA	0.348													32	75					0	0	0	0	T	58814436	C	T	58814436	3	4	364	1	0	0	0	0	1	0	0	0	921	594	21	4	1298	4	ARID4A	14	58814436	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	208858	58814436	48535104	1451	70380											
DACT1	51339	broad.mit.edu	37	chr14	59113414	59113414	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttcctacgaagaggccctGaggagggcccggcgcggtcg	7	6	16	12	5	0	2	0	1	0	1	2	4	1	3	3	5	1	0	3	5	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:59113414G>A	ENST00000395153.3	+	4	2109	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L	DACT1_ENST00000335867.4_Silent_p.L691L|DACT1_ENST00000541264.2_Silent_p.L410L|DACT1_ENST00000556859.1_Silent_p.L410L|DACT1_ENST00000395151.3_Silent_p.L410L	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	691					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AAGAGGCCCTGAGGAGGGCCC	0.677													9	32					0	0	0	0	A	59113414	G	A	59113414	2	1	364	1	0	0	0	0	0	0	0	1	4255	1277	45	2		2	DACT1	14	59113414	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	298978	59113414	48236126	1452	70381											
PRKCH	5583	broad.mit.edu	37	chr14	61952223	61952223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgtgtttgtatccaggatCgtctgttttttgtgatggag	5	19	12	5	1	1	1	0	1	1	0	3	3	2	3	1	2	0	3	1	2	1	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:61952223C>T	ENST00000332981.5	+	10	1667	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	PRKCH_ENST00000555082.1_Missense_Mutation_p.R267C	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	428	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TATCCAGGATCGTCTGTTTTT	0.473													127	272					0	0	0	0	T	61952223	C	T	61952223	3	4	364	1	0	0	0	0	1	0	0	0	12593	884	31	1	1320	1	PRKCH	14	61952223	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2838809	61952223	45397317	1453	70382											
SYT16	83851	broad.mit.edu	37	chr14	62536443	62536443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcagtgacatctgagaaaGgaaagcagacaggattggag	15	7	14	5	0	2	3	1	2	1	2	2	7	2	6	0	3	1	2	0	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:62536443G>A	ENST00000430451.2	+	2	843	c.646G>A	c.(646-648)Gga>Aga	p.G216R	SYT16_ENST00000446982.2_Missense_Mutation_p.G216R|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	216								p.G216*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATCTGAGAAAGGAAAGCAGAC	0.483													51	116					0	0	0	0	A	62536443	G	A	62536443	3	1	364	1	0	0	0	0	1	0	0	0	15563	1001	35	4	652	4	SYT16	14	62536443	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	584220	62536443	44813097	1454	70383											
SYT16	83851	broad.mit.edu	37	chr14	62547672	62547672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagctcacagtgaccattGtgagggcacagggcctccca	11	6	12	12	0	1	3	1	2	0	1	2	3	2	3	3	2	1	2	3	2	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:62547672G>T	ENST00000430451.2	+	4	1311	c.1114G>T	c.(1114-1116)Gtg>Ttg	p.V372L	SYT16_ENST00000446982.2_3'UTR|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	372	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGTGACCATTGTGAGGGCACA	0.547													7	12					0.248553	0.249289	1	0	T	62547672	G	T	62547672	3	4	364	1	0	0	0	0	1	0	0	0	15563	1377	48	4	1128	4	SYT16	14	62547672	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	11229	62547672	44801868	1455	70384											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208865	65208865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccactgaggggcgcagccCggcccacctggcccgggagc	5	3	15	18	3	0	1	0	1	0	0	1	2	1	2	5	5	2	1	5	5	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:65208865C>T	ENST00000247226.7	+	14	2770	c.2462C>T	c.(2461-2463)cCg>cTg	p.P821L	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.P382L|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.P877L|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.P410L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	877					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGGCGCAGCCCGGCCCACCTG	0.672													12	40					0	0	0	0	T	65208865	C	T	65208865	3	4	364	1	0	0	0	0	1	0	0	0	12142	652	23	1	2512	1	PLEKHG3	14	65208865	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2661193	65208865	42140675	1456	70385											
FNTB	2342	broad.mit.edu	37	chr14	65453806	65453806	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtggaaacagtcacgtcCatagaacaggtgaggtggca	12	7	14	8	2	1	2	1	1	0	1	3	3	2	3	1	5	2	1	1	5	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:65453806C>T	ENST00000246166.2	+	1	369	c.135C>T	c.(133-135)tcC>tcT	p.S45S	CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGTCACGTCCATAGAACAGG	0.667													16	31					0	0	0	0	T	65453806	C	T	65453806	2	4	364	1	0	0	0	0	0	0	0	1	6023	581	21	4		4	FNTB	14	65453806	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	244941	65453806	41895734	1457	70386											
PLEK2	26499	broad.mit.edu	37	chr14	67859925	67859925	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggggcttgaacggattccGgtgttgctatcgtgcatctt	5	15	13	8	3	1	1	0	1	1	0	3	2	2	2	1	4	3	4	1	4	2	6	rs149134361		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:67859925G>A	ENST00000216446.4	-	4	563	c.423C>T	c.(421-423)acC>acT	p.T141T		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	141	DEP.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		AACGGATTCCGGTGTTGCTAT	0.582													41	213					0	0	0	0	A	67859925	G	A	67859925	2	1	364	1	0	0	0	0	0	0	0	1	12126	1103	39	1		1	PLEK2	14	67859925	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2406119	67859925	39489615	1458	70387											
DCAF5	8816	broad.mit.edu	37	chr14	69558501	69558501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggatgtcatagagcacagGgggcaggcgtcgcctcaggg	9	6	17	9	2	2	1	2	0	0	1	3	2	2	2	1	5	1	2	1	5	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:69558501G>A	ENST00000341516.5	-	6	916	c.769C>T	c.(769-771)Cct>Tct	p.P257S	DCAF5_ENST00000554215.1_Missense_Mutation_p.P175S|DCAF5_ENST00000389997.6_Missense_Mutation_p.P257S|DCAF5_ENST00000557386.1_Missense_Mutation_p.P256S|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Missense_Mutation_p.P175S	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	257						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TAGAGCACAGGGGGCAGGCGT	0.542													20	126					0	0	0	0	A	69558501	G	A	69558501	3	1	364	1	0	0	0	0	1	0	0	0	4306	1232	43	4	2075	4	DCAF5	14	69558501	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1698576	69558501	37791039	1459	70388											
PCNX	22990	broad.mit.edu	37	chr14	71444535	71444535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaagaagccaataaaaatcCccatgcaaatgaatttactt	18	10	5	8	0	0	3	0	2	0	1	1	3	1	3	3	0	3	1	3	0	9	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:71444535C>T	ENST00000304743.2	+	6	1927	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L	PCNX_ENST00000439984.3_Missense_Mutation_p.P494L|PCNX_ENST00000238570.5_Missense_Mutation_p.P494L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	494						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AATAAAAATCCCCATGCAAAT	0.493													10	27					0	0	0	0	T	71444535	C	T	71444535	3	4	364	1	0	0	0	0	1	0	0	0	11662	623	22	4	1503	4	PCNX	14	71444535	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1886034	71444535	35905005	1460	70389											
DPF3	8110	broad.mit.edu	37	chr14	73137881	73137881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctgctgtgggcgaacccCggccactgcggcgtcctcga	5	8	13	15	5	1	0	0	0	1	0	3	2	2	0	4	3	3	1	4	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:73137881C>T	ENST00000541685.1	-	9	1049	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.R356Q|DPF3_ENST00000556509.1_Intron	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	177					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGGCGAACCCCGGCCACTGCG	0.542													15	28					0	0	0	0	T	73137881	C	T	73137881	3	4	364	1	0	0	0	0	1	0	0	0	4754	652	23	1	40	1	DPF3	14	73137881	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1693346	73137881	34211659	1461	70390											
ZFYVE1	53349	broad.mit.edu	37	chr14	73490962	73490962	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacctcactattgccctctgCctaacacctggtaaatgccc	9	10	5	17	0	2	0	1	0	1	0	2	0	2	0	5	1	4	1	5	1	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:73490962C>T	ENST00000556143.1	-	2	975	c.255G>A	c.(253-255)agG>agA	p.R85R	ZFYVE1_ENST00000553891.1_Silent_p.R85R|ZFYVE1_ENST00000318876.5_Silent_p.R85R	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	85						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TTGCCCTCTGCCTAACACCTG	0.517													44	210					0	0	0	0	T	73490962	C	T	73490962	2	4	364	1	0	0	0	0	0	0	0	1	17758	738	26	4		4	ZFYVE1	14	73490962	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	353081	73490962	33858578	1462	70391											
FAM161B	145483	broad.mit.edu	37	chr14	74411450	74411450	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcatgcggaatggccgaggGacagtaatggatgatgccca	11	7	15	8	2	1	1	1	1	0	0	1	5	1	4	2	4	2	1	2	4	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:74411450G>A	ENST00000286544.3	-	3	900	c.702C>T	c.(700-702)gtC>gtT	p.V234V	FAM161B_ENST00000534936.1_Silent_p.V171V	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						ATGGCCGAGGGACAGTAATGG	0.662													4	33					0	0	0	0	A	74411450	G	A	74411450	2	1	364	1	0	0	0	0	0	0	0	1	5514	1161	41	2		2	FAM161B	14	74411450	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	920488	74411450	32938090	1463	70392											
ANGEL1	23357	broad.mit.edu	37	chr14	77275791	77275791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagtgccaggctgctctggGctagtcctttatctataagg	8	12	12	9	0	2	0	0	0	2	0	3	1	3	0	2	3	2	3	2	3	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77275791G>T	ENST00000251089.2	-	2	372	c.260C>A	c.(259-261)gCc>gAc	p.A87D	ANGEL1_ENST00000554941.1_5'UTR	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	87										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCTGCTCTGGGCTAGTCCTTT	0.567													9	53					0.00621372	0.00626463	1	0	T	77275791	G	T	77275791	3	4	364	1	0	0	0	0	1	0	0	0	608	1203	42	4	1788	4	ANGEL1	14	77275791	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2864341	77275791	30073749	1464	70393											
POMT2	29954	broad.mit.edu	37	chr14	77746178	77746178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgacctgcaacctccgCtggcagccgtgcccctctct	5	8	9	19	2	1	1	0	1	1	0	3	2	2	1	7	1	4	3	7	1	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77746178C>T	ENST00000261534.4	-	18	2081	c.1879G>A	c.(1879-1881)Gcg>Acg	p.A627T		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	627					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GCAACCTCCGCTGGCAGCCGT	0.657													5	26					0	0	0	0	T	77746178	C	T	77746178	3	4	364	1	0	0	0	0	1	0	0	0	12318	797	28	4	389	4	POMT2	14	77746178	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	470387	77746178	29603362	1465	70394											
ISM2	145501	broad.mit.edu	37	chr14	77950775	77950775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgggaggcgtggcattcCctggggtcagggctgctggc	3	9	18	11	1	1	0	1	0	0	0	3	1	3	1	2	7	1	3	2	7	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77950775C>T	ENST00000393684.3	-	4	645	c.254G>A	c.(253-255)gGg>gAg	p.G85E	ISM2_ENST00000342219.4_Missense_Mutation_p.G173E|ISM2_ENST00000493585.1_Missense_Mutation_p.G173E|ISM2_ENST00000412904.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.G92E			Q6H9L7	ISM2_HUMAN	isthmin 2	173						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CGTGGCATTCCCTGGGGTCAG	0.602													14	102					0	0	0	0	T	77950775	C	T	77950775	3	4	364	1	0	0	0	0	1	0	0	0	7914	623	22	4	1217	4	ISM2	14	77950775	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	204597	77950775	29398765	1466	70395											
PTPN21	11099	broad.mit.edu	37	chr14	88938664	88938664	+	Missense_Mutation	SNP	G	G	A																															ccactctcacatcatcataaGgaagaacatcttggaatcga																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:88938664G>A	ENST00000556564.1	-	15	3079	c.2795C>T	c.(2794-2796)cCt>cTt	p.P932L	PTPN21_ENST00000328736.3_Missense_Mutation_p.P932L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	932	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATCATCATAAGGAAGAACATC	0.413													8	64					0	0	0	0	A	88938664	G	A	88938664	3	1	364	1	0	0	0	0	1	0	0	0	12868	1000	35	4	749	4	PTPN21	14	88938664	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	10987889	88938664	18410876	1467	70396	929	2									
PTPN21	11099	broad.mit.edu	37	chr14	88938665	88938665	+	Missense_Mutation	SNP	G	G	A																															cactctcacatcatcataagGaagaacatcttggaatcgat																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:88938665G>A	ENST00000556564.1	-	15	3078	c.2794C>T	c.(2794-2796)Cct>Tct	p.P932S	PTPN21_ENST00000328736.3_Missense_Mutation_p.P932S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	932	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCATCATAAGGAAGAACATCT	0.408													8	62					0	0	0	0	A	88938665	G	A	88938665	3	1	364	1	0	0	0	0	1	0	0	0	12868	1174	41	2	750	2	PTPN21	14	88938665	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	88938665	18410875	1468	70397	929	2									
FOXN3	1112	broad.mit.edu	37	chr14	89878802	89878802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctttctggcttcttactggGaggcatgactggacccattt	6	14	11	10	0	2	1	0	1	2	0	2	3	2	3	1	4	1	3	1	4	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:89878802G>A	ENST00000345097.4	-	2	135	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S	FOXN3_ENST00000557258.1_Missense_Mutation_p.P7S|RP11-33N16.3_ENST00000555070.1_RNA|FOXN3_ENST00000261302.5_Missense_Mutation_p.P7S|FOXN3_ENST00000555353.1_Missense_Mutation_p.P7S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	7					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTCTTACTGGGAGGCATGACT	0.512													11	65					0	0	0	0	A	89878802	G	A	89878802	3	1	364	1	0	0	0	0	1	0	0	0	6068	1174	41	2	1477	2	FOXN3	14	89878802	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	940137	89878802	17470738	1469	70398											
KCNK13	56659	broad.mit.edu	37	chr14	90650550	90650550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccatcttgttcttcaacCtcttcctggagcgcctgatc	6	13	7	15	1	4	1	1	1	3	0	6	2	5	2	4	1	2	2	4	1	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:90650550C>T	ENST00000282146.4	+	2	871	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	144						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GTTCTTCAACCTCTTCCTGGA	0.557													20	110					0	0	0	0	T	90650550	C	T	90650550	3	4	364	1	0	0	0	0	1	0	0	0	8114	681	24	4	436	4	KCNK13	14	90650550	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	771748	90650550	16698990	1470	70399											
CCDC88C	440193	broad.mit.edu	37	chr14	91770131	91770131	+	Silent	SNP	G	G	A																															cggatgagggcctcgtactcGgccgattgccgctcgtgcag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:91770131G>A	ENST00000389857.6	-	20	3635	c.3549C>T	c.(3547-3549)gcC>gcT	p.A1183A		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1183					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCTCGTACTCGGCCGATTGCC	0.642													13	16					0	0	0	0	A	91770131	G	A	91770131	2	1	364	1	0	0	0	0	0	0	0	1	2892	1103	39	1		1	CCDC88C	14	91770131	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1119581	91770131	15579409	1471	70400	930	2									
CCDC88C	440193	broad.mit.edu	37	chr14	91770132	91770132	+	Missense_Mutation	SNP	G	G	A																															ggatgagggcctcgtactcgGccgattgccgctcgtgcagc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:91770132G>A	ENST00000389857.6	-	20	3634	c.3548C>T	c.(3547-3549)gCc>gTc	p.A1183V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1183					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCGTACTCGGCCGATTGCCG	0.642													13	16					0	0	0	0	A	91770132	G	A	91770132	3	1	364	1	0	0	0	0	1	0	0	0	2892	1203	42	4	2582	4	CCDC88C	14	91770132	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	91770132	15579408	1472	70401	930	2									
CPSF2	53981	broad.mit.edu	37	chr14	92600677	92600677	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatacagcagctaaaattCtctcagattgtgaatttgaa	17	12	6	6	0	2	3	1	2	1	1	3	3	2	3	0	0	3	2	0	0	7	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:92600677C>T	ENST00000298875.4	+	5	678	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	131					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AGCTAAAATTCTCTCAGATTG	0.333													6	35					0	0	0	0	T	92600677	C	T	92600677	2	4	364	1	0	0	0	0	0	0	0	1	3855	912	32	2		2	CPSF2	14	92600677	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	830545	92600677	14748863	1473	70402											
RIN3	79890	broad.mit.edu	37	chr14	93118295	93118295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcccagccccctgtgctcCctgctcttgcccccgcccct	2	8	7	24	1	1	0	0	0	1	0	2	0	2	0	8	0	5	2	8	0	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:93118295C>T	ENST00000216487.7	+	6	1060	c.901C>T	c.(901-903)Cct>Tct	p.P301S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	301	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				ccctgtgctccctgctcttgc	0.731													5	17					0	0	0	0	T	93118295	C	T	93118295	3	4	364	1	0	0	0	0	1	0	0	0	13458	623	22	4	923	4	RIN3	14	93118295	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	517618	93118295	14231245	1474	70403											
ITPK1	3705	broad.mit.edu	37	chr14	93483065	93483065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggactggctatcattctggtCggcttcaaggatgacgtcag	8	11	13	9	2	4	1	3	1	1	0	5	3	4	3	0	5	0	2	0	5	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:93483065C>T	ENST00000267615.6	-	4	375	c.202G>A	c.(202-204)Gac>Aac	p.D68N	ITPK1_ENST00000354313.3_Missense_Mutation_p.D68N|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000555495.1_5'UTR|ITPK1_ENST00000556603.2_Missense_Mutation_p.D68N			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	68					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	p.D68N(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TCATTCTGGTCGGCTTCAAGG	0.597													9	61					0	0	0	0	T	93483065	C	T	93483065	3	4	364	1	0	0	0	0	1	0	0	0	7969	884	31	1	1122	1	ITPK1	14	93483065	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	364770	93483065	13866475	1475	70404											
PRIMA1	145270	broad.mit.edu	37	chr14	94245575	94245575	+	Missense_Mutation	SNP	G	G	A																															gtgggggcggcgggggcagcGggggagggggccggcactgg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94245575G>A	ENST00000393140.1	-	3	278	c.176C>T	c.(175-177)cCg>cTg	p.P59L	PRIMA1_ENST00000316227.3_Missense_Mutation_p.P59L|PRIMA1_ENST00000393143.1_Missense_Mutation_p.P59L	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	59	PRAD.				neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		cgggggcagcgggggaggggg	0.632													3	10					0	0	0	0	A	94245575	G	A	94245575	3	1	364	1	0	0	0	0	1	0	0	0	12572	1116	39	1	297	1	PRIMA1	14	94245575	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	762510	94245575	13103965	1476	70405	931	2									
PRIMA1	145270	broad.mit.edu	37	chr14	94245576	94245576	+	Missense_Mutation	SNP	G	G	A																															tgggggcggcgggggcagcgGgggagggggccggcactggc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94245576G>A	ENST00000393140.1	-	3	277	c.175C>T	c.(175-177)Ccg>Tcg	p.P59S	PRIMA1_ENST00000316227.3_Missense_Mutation_p.P59S|PRIMA1_ENST00000393143.1_Missense_Mutation_p.P59S	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	59	PRAD.				neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		gggggcagcgggggagggggc	0.637													3	11					0	0	0	0	A	94245576	G	A	94245576	3	1	364	1	0	0	0	0	1	0	0	0	12572	1232	43	4	298	4	PRIMA1	14	94245576	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	94245576	13103964	1477	70406	931	2									
FAM181A	90050	broad.mit.edu	37	chr14	94395247	94395247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcctggggtctccttggtgGgccgcgtcaatgcctggagt	3	11	16	11	2	2	0	1	0	1	0	3	1	2	1	4	5	2	0	4	5	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94395247G>A	ENST00000267594.5	+	3	1109	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	FAM181A_ENST00000557719.1_Missense_Mutation_p.G206S|FAM181A_ENST00000557000.2_Missense_Mutation_p.G206S|FAM181A_ENST00000556222.1_Missense_Mutation_p.G206S	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	268										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CTCCTTGGTGGGCCGCGTCAA	0.647													7	41					0	0	0	0	A	94395247	G	A	94395247	3	1	364	1	0	0	0	0	1	0	0	0	5550	1232	43	4	808	4	FAM181A	14	94395247	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	149671	94395247	12954293	1478	70407											
SERPINA4	5267	broad.mit.edu	37	chr14	95030212	95030212	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacactctcaacctcccCggccatgggctggaaacacg	9	6	9	17	2	1	0	1	0	1	0	3	1	2	1	4	3	3	2	4	3	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:95030212C>T	ENST00000557004.1	+	2	814	c.393C>T	c.(391-393)ccC>ccT	p.P131P	SERPINA4_ENST00000555095.1_Silent_p.P131P|SERPINA4_ENST00000298841.5_Silent_p.P131P|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	131					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.P131P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCAACCTCCCCGGCCATGGGC	0.582													13	84					0	0	0	0	T	95030212	C	T	95030212	2	4	364	1	0	0	0	0	0	0	0	1	14178	639	23	1		1	SERPINA4	14	95030212	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	634965	95030212	12319328	1479	70408											
SERPINA5	5104	broad.mit.edu	37	chr14	95053761	95053761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggggcctcccttcaccGccaccacccccgggagatga	7	5	11	18	2	2	2	2	1	0	1	3	3	3	2	7	3	0	0	7	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:95053761G>A	ENST00000329597.7	+	3	272	c.62G>A	c.(61-63)cGc>cAc	p.R21H	SERPINA5_ENST00000554866.1_Missense_Mutation_p.R21H|SERPINA5_ENST00000553780.1_Missense_Mutation_p.R21H|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R21H	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	21					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCCCTTCACCGCCACCACCCC	0.587													20	111					0	0	0	0	A	95053761	G	A	95053761	3	1	364	1	0	0	0	0	1	0	0	0	14179	1087	38	1	64	1	SERPINA5	14	95053761	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	23549	95053761	12295779	1480	70409											
TCL1B	9623	broad.mit.edu	37	chr14	96152888	96152888	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatctacgaagatgaggaGgggagaacctgggtgactgt	11	7	17	6	1	1	4	0	2	1	2	1	7	1	5	1	5	2	1	1	5	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96152888G>A	ENST00000340722.7	+	1	135	c.84G>A	c.(82-84)gaG>gaA	p.E28E	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	28										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		AAGATGAGGAGGGGAGAACCT	0.642													11	51					0	0	0	0	A	96152888	G	A	96152888	2	1	364	1	0	0	0	0	0	0	0	1	15799	991	35	4		4	TCL1B	14	96152888	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1099127	96152888	11196652	1481	70410											
BDKRB2	624	broad.mit.edu	37	chr14	96707406	96707406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttctgcacgatgcagatCatgcaggtgctgcggaacaa	11	8	11	11	2	2	1	1	0	1	1	2	3	2	2	1	2	6	4	1	2	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96707406C>T	ENST00000542454.2	+	3	3748	c.660C>T	c.(658-660)atC>atT	p.I220I	BDKRB2_ENST00000554311.1_Silent_p.I247I|BDKRB2_ENST00000539359.1_Silent_p.I220I|BDKRB2_ENST00000306005.3_Silent_p.I247I|RP11-404P21.8_ENST00000553811.1_Intron			P30411	BKRB2_HUMAN	bradykinin receptor B2	247					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CGATGCAGATCATGCAGGTGC	0.547													15	26					0	0	0	0	T	96707406	C	T	96707406	2	4	364	1	0	0	0	0	0	0	0	1	1397	816	29	2		2	BDKRB2	14	96707406	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	554518	96707406	10642134	1482	70411											
BDKRB1	623	broad.mit.edu	37	chr14	96730397	96730397	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatttgttcatcagcatcttCctggtggtggccatcagcca	8	13	9	11	0	4	0	3	0	1	0	5	0	5	0	3	3	2	2	3	3	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96730397C>T	ENST00000216629.6	+	3	984	c.378C>T	c.(376-378)ttC>ttT	p.F126F	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Silent_p.F126F	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	126					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TCAGCATCTTCCTGGTGGTGG	0.622													25	88					0	0	0	0	T	96730397	C	T	96730397	2	4	364	1	0	0	0	0	0	0	0	1	1396	854	30	2		2	BDKRB1	14	96730397	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	22991	96730397	10619143	1483	70412											
AK7	122481	broad.mit.edu	37	chr14	96875277	96875277	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgctccaaagccctggaccCcgtaagtagagcgttagctt	9	8	11	13	3	0	1	0	0	0	1	1	2	1	2	4	1	3	5	4	1	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96875277C>T	ENST00000267584.4	+	4	541	c.498_splice	c.e4+1	p.P166_splice	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	166					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GCCCTGGACCCCGTAAGTAGA	0.478													17	48					0	0	0	0	T	96875277	C	T	96875277	5	4	364	1	0	0	0	0	0	0	1	0	444	637	22	4	511	4	AK7	14	96875277	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	144880	96875277	10474263	1484	70413											
EML1	2009	broad.mit.edu	37	chr14	100402648	100402648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acagttcctcgtgtcaaattCcggagactacgaaatcctct	11	11	7	12	3	2	1	1	0	1	1	6	3	5	1	3	1	1	1	3	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:100402648C>T	ENST00000262233.6	+	19	2211	c.2072C>T	c.(2071-2073)tCc>tTc	p.S691F	EML1_ENST00000334192.4_Missense_Mutation_p.S710F|EML1_ENST00000327921.9_Missense_Mutation_p.S679F	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	691						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GTGTCAAATTCCGGAGACTAC	0.502													26	39					0	0	0	0	T	100402648	C	T	100402648	3	4	364	1	0	0	0	0	1	0	0	0	5134	855	30	2	2207	2	EML1	14	100402648	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3527371	100402648	6946892	1485	70414											
DLK1	8788	broad.mit.edu	37	chr14	101200538	101200538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgagggccgggcctccCatgcctcctgcctgtgcccc	4	8	12	17	1	0	2	0	2	0	0	2	2	2	2	8	2	3	0	8	2	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:101200538C>T	ENST00000341267.4	+	5	699	c.457C>T	c.(457-459)Cat>Tat	p.H153Y	DLK1_ENST00000331224.6_Missense_Mutation_p.H153Y	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	153	EGF-like 4.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCGGGCCTCCCATGCCTCCTG	0.637													18	74					0	0	0	0	T	101200538	C	T	101200538	3	4	364	1	0	0	0	0	1	0	0	0	4601	594	21	4	475	4	DLK1	14	101200538	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	797890	101200538	6149002	1486	70415											
WDR20	91833	broad.mit.edu	37	chr14	102675278	102675278	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggagctgcacggtacGatgaaaagctactttggggg	10	9	15	7	2	1	1	1	1	0	0	1	3	1	2	0	4	5	4	0	4	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:102675278G>T	ENST00000335263.5	+	3	851	c.771G>T	c.(769-771)acG>acT	p.T257T	WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556807.1_Silent_p.T196T|WDR20_ENST00000424963.2_Silent_p.T133T|WDR20_ENST00000342702.3_Silent_p.T257T|WDR20_ENST00000454394.2_Silent_p.T288T|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000545563.1_Silent_p.T84T|WDR20_ENST00000556511.2_Silent_p.T196T|WDR20_ENST00000299135.6_3'UTR	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	257										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TGCACGGTACGATGAAAAGCT	0.557													34	39					2.47316e-13	2.54363e-13	1	0	T	102675278	G	T	102675278	2	4	364	1	0	0	0	0	0	0	0	1	17376	1045	37	3		3	WDR20	14	102675278	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1474740	102675278	4674262	1487	70416											
AHNAK2	113146	broad.mit.edu	37	chr14	105408933	105408933	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcatgtccttgtcggctagGgacaggtcaccctccagccg	6	9	12	14	2	2	0	2	0	0	0	5	1	4	1	4	3	1	1	4	3	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105408933G>A	ENST00000333244.5	-	7	12974	c.12855C>T	c.(12853-12855)tcC>tcT	p.S4285S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4285						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCGGCTAGGGACAGGTCAC	0.612													128	257					0	0	0	0	A	105408933	G	A	105408933	2	1	364	1	0	0	0	0	0	0	0	1	415	1219	43	4		4	AHNAK2	14	105408933	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2733655	105408933	1940607	1488	70417											
AHNAK2	113146	broad.mit.edu	37	chr14	105414531	105414531	+	Silent	SNP	G	G	A																															gggcccttgacatctatctgGgggcccttgagatctacttt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105414531G>A	ENST00000333244.5	-	7	7376	c.7257C>T	c.(7255-7257)ccC>ccT	p.P2419P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2419						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCTATCTGGGGGCCCTTGA	0.637													61	272					0	0	0	0	A	105414531	G	A	105414531	2	1	364	1	0	0	0	0	0	0	0	1	415	1219	43	4		4	AHNAK2	14	105414531	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5598	105414531	1935009	1489	70418	932	2									
AHNAK2	113146	broad.mit.edu	37	chr14	105414532	105414532	+	Missense_Mutation	SNP	G	G	A																															ggcccttgacatctatctggGggcccttgagatctactttg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105414532G>A	ENST00000333244.5	-	7	7375	c.7256C>T	c.(7255-7257)cCc>cTc	p.P2419L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2419						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCTATCTGGGGGCCCTTGAG	0.637													57	268					0	0	0	0	A	105414532	G	A	105414532	3	1	364	1	0	0	0	0	1	0	0	0	415	1232	43	4	10135	4	AHNAK2	14	105414532	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	105414532	1935008	1490	70419	932	2									
AHNAK2	113146	broad.mit.edu	37	chr14	105417195	105417195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttgaggtccccctgcatGgaggggaggctcacgtcggc	5	7	16	13	2	1	1	1	1	0	0	3	3	2	3	3	6	1	2	3	6	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105417195G>A	ENST00000333244.5	-	7	4712	c.4593C>T	c.(4591-4593)tcC>tcT	p.S1531S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1531						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCCTGCATGGAGGGGAGGC	0.642													19	197					0	0	0	0	A	105417195	G	A	105417195	2	1	364	1	0	0	0	0	0	0	0	1	415	1335	47	4		4	AHNAK2	14	105417195	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2663	105417195	1932345	1491	70420											
AHNAK2	113146	broad.mit.edu	37	chr14	105418185	105418185	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgaggtccccctgcatGgaggggagactcacgtcggc	6	8	15	12	2	2	2	1	1	1	1	4	4	3	3	2	5	1	1	2	5	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105418185G>A	ENST00000333244.5	-	7	3722	c.3603C>T	c.(3601-3603)tcC>tcT	p.S1201S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1201						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCCTGCATGGAGGGGAGAC	0.642													9	191					0	0	0	0	A	105418185	G	A	105418185	2	1	364	1	0	0	0	0	0	0	0	1	415	1335	47	4		4	AHNAK2	14	105418185	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	990	105418185	1931355	1492	70421											
OR4M2	390538	broad.mit.edu	37	chr15	22368758	22368758	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgacctctcctatgtatttCctgttggctaatctggcctt	5	17	7	12	0	2	1	0	1	2	0	4	1	3	1	4	2	0	3	4	2	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:22368758C>T	ENST00000332663.2	+	1	281	c.183C>T	c.(181-183)ttC>ttT	p.F61F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTATGTATTTCCTGTTGGCTA	0.388													132	445					0	0	0	0	T	22368758	C	T	22368758	2	4	364	1	0	0	0	0	0	0	0	1	11147	854	30	2		2	OR4M2	15	22368758	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08		22368758	80162634	1493	70422											
MAGEL2	54551	broad.mit.edu	37	chr15	23889933	23889933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caactacgggcagagagctcCctgggctttcagagagaccc	10	6	12	13	1	1	3	1	0	0	3	2	5	2	3	2	2	3	3	2	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:23889933C>T	ENST00000532292.1	-	1	1242	c.1148G>A	c.(1147-1149)gGg>gAg	p.G383E		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGAGAGCTCCCTGGGCTTTC	0.642													8	23					0	0	0	0	T	23889933	C	T	23889933	3	4	364	1	0	0	0	0	1	0	0	0	9258	623	22	4	796	4	MAGEL2	15	23889933	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1521175	23889933	78641459	1494	70423											
ATP10A	57194	broad.mit.edu	37	chr15	25925040	25925040	+	Silent	SNP	C	C	T																															tctttgggagcactgcatctCctgggggacttcctggtcaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:25925040C>T	ENST00000356865.6	-	21	4059	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1316					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CACTGCATCTCCTGGGGGACT	0.542													13	100					0	0	0	0	T	25925040	C	T	25925040	2	4	364	1	0	0	0	0	0	0	0	1	1120	854	30	2		2	ATP10A	15	25925040	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2035107	25925040	76606352	1495	70424	933	2									
ATP10A	57194	broad.mit.edu	37	chr15	25925041	25925041	+	Missense_Mutation	SNP	C	C	T																															ctttgggagcactgcatctcCtgggggacttcctggtcaac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:25925041C>T	ENST00000356865.6	-	21	4058	c.3947G>A	c.(3946-3948)aGg>aAg	p.R1316K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1316					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACTGCATCTCCTGGGGGACTT	0.537													13	100					0	0	0	0	T	25925041	C	T	25925041	3	4	364	1	0	0	0	0	1	0	0	0	1120	681	24	4	556	4	ATP10A	15	25925041	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	25925041	76606351	1496	70425	933	2									
ATP10A	57194	broad.mit.edu	37	chr15	25953190	25953190	+	Silent	SNP	G	G	A																															agctcctcgctgttttccagGgaggattcggcttctaggtg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:25953190G>A	ENST00000356865.6	-	12	2619	c.2508C>T	c.(2506-2508)tcC>tcT	p.S836S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	836					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGTTTTCCAGGGAGGATTCGG	0.522													20	47					0	0	0	0	A	25953190	G	A	25953190	2	1	364	1	0	0	0	0	0	0	0	1	1120	1219	43	4		4	ATP10A	15	25953190	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	28149	25953190	76578202	1497	70426	934	2									
ATP10A	57194	broad.mit.edu	37	chr15	25953191	25953191	+	Missense_Mutation	SNP	G	G	A																															gctcctcgctgttttccaggGaggattcggcttctaggtgg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:25953191G>A	ENST00000356865.6	-	12	2618	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	836					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTTTTCCAGGGAGGATTCGGC	0.527													20	47					0	0	0	0	A	25953191	G	A	25953191	3	1	364	1	0	0	0	0	1	0	0	0	1120	1174	41	2	2032	2	ATP10A	15	25953191	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	25953191	76578201	1498	70427	934	2									
GABRB3	2562	broad.mit.edu	37	chr15	26806283	26806283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgggcaaggtctcccgaagGtgggtgttgatggttgtcat	6	13	16	6	1	2	1	1	1	1	0	3	2	2	1	1	5	0	3	1	5	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:26806283G>T	ENST00000541819.2	-	9	1146	c.1044C>A	c.(1042-1044)caC>caA	p.H348Q	GABRB3_ENST00000299267.4_Missense_Mutation_p.H292Q|GABRB3_ENST00000400188.3_Missense_Mutation_p.H221Q|GABRB3_ENST00000311550.5_Missense_Mutation_p.H292Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.H207Q			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	292					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.H292Q(2)|p.H348Q(1)		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)	TCTCCCGAAGGTGGGTGTTGA	0.473													22	125					3.8784e-16	4.00872e-16	1	0	T	26806283	G	T	26806283	3	4	364	1	0	0	0	0	1	0	0	0	6216	1252	44	4	553	4	GABRB3	15	26806283	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	853092	26806283	75725109	1499	70428											
OCA2	4948	broad.mit.edu	37	chr15	28116344	28116344	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatcagggacgacgccaGggctgagacccacaccacca	12	3	11	15	2	2	1	2	1	0	1	2	4	2	2	4	2	0	1	4	2	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:28116344G>A	ENST00000354638.3	-	21	2355	c.2200C>T	c.(2200-2202)Ctg>Ttg	p.L734L	OCA2_ENST00000353809.5_Silent_p.L710L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	734					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GACGACGCCAGGGCTGAGACC	0.572									Oculocutaneous Albinism				16	65					0	0	0	0	A	28116344	G	A	28116344	2	1	364	1	0	0	0	0	0	0	0	1	10886	991	35	4		4	OCA2	15	28116344	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1310061	28116344	74415048	1500	70429											
HERC2	8924	broad.mit.edu	37	chr15	28358821	28358821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctgctcatcaaattcatgGagtctggaagaaaaagctca	15	9	8	9	0	5	1	4	0	1	1	5	3	5	3	1	2	2	2	1	2	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:28358821G>A	ENST00000261609.7	-	91	14025	c.13917C>T	c.(13915-13917)ctC>ctT	p.L4639L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4639	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAAATTCATGGAGTCTGGAAG	0.537													7	32					0	0	0	0	A	28358821	G	A	28358821	2	1	364	1	0	0	0	0	0	0	0	1	7108	1161	41	2		2	HERC2	15	28358821	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	242477	28358821	74172571	1501	70430											
HERC2	8924	broad.mit.edu	37	chr15	28465693	28465693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttccttctttccccatcCtgtaggagttggtgctgcct	4	17	8	12	0	1	0	0	0	1	0	4	1	4	1	5	2	2	3	5	2	1	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:28465693C>T	ENST00000261609.7	-	37	5858	c.5750G>A	c.(5749-5751)aGg>aAg	p.R1917K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1917	MIB/HERC2.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTTCCCCATCCTGTAGGAGTT	0.597													64	110					0	0	0	0	T	28465693	C	T	28465693	3	4	364	1	0	0	0	0	1	0	0	0	7108	681	24	4	8982	4	HERC2	15	28465693	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	106872	28465693	74065699	1502	70431											
TJP1	7082	broad.mit.edu	37	chr15	30012590	30012590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggctggcttaaatccagggGagtctattctatgaattggt	10	13	12	6	0	2	1	0	1	2	0	3	2	3	2	1	5	0	2	1	5	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:30012590G>A	ENST00000346128.6	-	19	3209	c.2735C>T	c.(2734-2736)tCc>tTc	p.S912F	TJP1_ENST00000400011.2_Missense_Mutation_p.S916F|TJP1_ENST00000356107.6_Missense_Mutation_p.S912F|TJP1_ENST00000545208.2_Missense_Mutation_p.S912F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	912					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AAATCCAGGGGAGTCTATTCT	0.423													81	154					0	0	0	0	A	30012590	G	A	30012590	3	1	364	1	0	0	0	0	1	0	0	0	16023	1174	41	2	2551	2	TJP1	15	30012590	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1546897	30012590	72518802	1503	70432											
RYR3	6263	broad.mit.edu	37	chr15	34072526	34072526	+	Silent	SNP	C	C	T																															tcggtcttcaacaccaaaacCcccagggagaggtctagtaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:34072526C>T	ENST00000389232.4	+	65	9322	c.9252C>T	c.(9250-9252)acC>acT	p.T3084T	RYR3_ENST00000415757.3_Silent_p.T3084T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3084					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACACCAAAACCCCCAGGGAGA	0.557													5	27					0	0	0	0	T	34072526	C	T	34072526	2	4	364	1	0	0	0	0	0	0	0	1	13855	610	22	4		4	RYR3	15	34072526	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4059936	34072526	68458866	1504	70433	935	2									
RYR3	6263	broad.mit.edu	37	chr15	34072528	34072528	+	Missense_Mutation	SNP	C	C	T																															ggtcttcaacaccaaaacccCcagggagaggtctagtaagt																								rs61996335	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:34072528C>T	ENST00000389232.4	+	65	9324	c.9254C>T	c.(9253-9255)cCc>cTc	p.P3085L	RYR3_ENST00000415757.3_Missense_Mutation_p.P3085L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3085					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCAAAACCCCCAGGGAGAGG	0.562													4	28					0	0	0	0	T	34072528	C	T	34072528	3	4	364	1	0	0	0	0	1	0	0	0	13855	623	22	4	9512	4	RYR3	15	34072528	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2	34072528	68458864	1505	70434	935	2									
C15orf52	388115	broad.mit.edu	37	chr15	40627527	40627527	+	Silent	SNP	C	C	T																															tctgggagccctgctcctctCtgtggctcagggcaagtctg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40627527C>T	ENST00000397536.2	-	7	842	c.807G>A	c.(805-807)caG>caA	p.Q269Q	C15orf52_ENST00000559313.1_Silent_p.Q479Q			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	479								p.Q479Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTGCTCCTCTCTGTGGCTCAG	0.662													36	58					0	0	0	0	T	40627527	C	T	40627527	2	4	364	1	0	0	0	0	0	0	0	1	1812	912	32	2		2	C15orf52	15	40627527	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	6554999	40627527	61903865	1506	70435	936	2									
C15orf52	388115	broad.mit.edu	37	chr15	40627528	40627528	+	Missense_Mutation	SNP	T	T	C																															ctgggagccctgctcctctcTgtggctcagggcaagtctgt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40627528T>C	ENST00000397536.2	-	7	841	c.806A>G	c.(805-807)cAg>cGg	p.Q269R	C15orf52_ENST00000559313.1_Missense_Mutation_p.Q479R			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	479										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TGCTCCTCTCTGTGGCTCAGG	0.662													35	58					0	0	0	0	C	40627528	T	C	40627528	3	2	364	1	0	0	0	0	1	0	0	0	1812	1580	55	5	172	5	C15orf52	15	40627528	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1	40627528	61903864	1507	70436	936	2									
DISP2	85455	broad.mit.edu	37	chr15	40659297	40659297	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcggggctctgtgccagcgGacagcagccaaccagtgctg	7	7	14	13	2	1	0	0	0	1	0	2	1	1	1	3	3	6	3	3	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40659297G>A	ENST00000267889.3	+	8	1071	c.984G>A	c.(982-984)cgG>cgA	p.R328R		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	328					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGTGCCAGCGGACAGCAGCCA	0.637													9	49					0	0	0	0	A	40659297	G	A	40659297	2	1	364	1	0	0	0	0	0	0	0	1	4577	1161	41	2		2	DISP2	15	40659297	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	31769	40659297	61872095	1508	70437											
BAHD1	22893	broad.mit.edu	37	chr15	40751119	40751119	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcgagcaggggatccccaCcgcagccgtgaccgtgatcg	8	5	14	14	5	0	2	0	2	0	0	3	4	1	3	5	2	2	2	5	2	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40751119C>T	ENST00000561234.1	+	2	715	c.456C>T	c.(454-456)caC>caT	p.H152H	BAHD1_ENST00000560846.1_Silent_p.H152H|BAHD1_ENST00000416165.1_Silent_p.H152H			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	152					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GGGATCCCCACCGCAGCCGTG	0.662													23	32					0	0	0	0	T	40751119	C	T	40751119	2	4	364	1	0	0	0	0	0	0	0	1	1301	506	18	4		4	BAHD1	15	40751119	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	91822	40751119	61780273	1509	70438											
CASC5	57082	broad.mit.edu	37	chr15	40915395	40915395	+	Missense_Mutation	SNP	C	C	T																															cagacctaactttgaactatCccaaaggaaaagcctaggaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40915395C>T	ENST00000346991.5	+	11	3401	c.3011C>T	c.(3010-3012)tCc>tTc	p.S1004F	CASC5_ENST00000399668.2_Missense_Mutation_p.S978F			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1004	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTTGAACTATCCCAAAGGAAA	0.388													4	56					0	0	0	0	T	40915395	C	T	40915395	3	4	364	1	0	0	0	0	1	0	0	0	2688	855	30	2	3049	2	CASC5	15	40915395	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	164276	40915395	61615997	1510	70439	937	2									
CASC5	57082	broad.mit.edu	37	chr15	40915396	40915396	+	Silent	SNP	C	C	T																															agacctaactttgaactatcCcaaaggaaaagcctaggaac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40915396C>T	ENST00000346991.5	+	11	3402	c.3012C>T	c.(3010-3012)tcC>tcT	p.S1004S	CASC5_ENST00000399668.2_Silent_p.S978S			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1004	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTGAACTATCCCAAAGGAAAA	0.393													5	56					0	0	0	0	T	40915396	C	T	40915396	2	4	364	1	0	0	0	0	0	0	0	1	2688	610	22	4		4	CASC5	15	40915396	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	40915396	61615996	1511	70440	937	2									
CASC5	57082	broad.mit.edu	37	chr15	40917521	40917521	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atataaatcacttagaaactCagccggtctctagcaaagat	16	10	6	9	1	3	2	2	0	1	2	4	2	3	2	1	1	3	1	1	1	7	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40917521C>T	ENST00000346991.5	+	11	5527	c.5137C>T	c.(5137-5139)Cag>Tag	p.Q1713*	CASC5_ENST00000399668.2_Nonsense_Mutation_p.Q1687*			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1713					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTTAGAAACTCAGCCGGTCTC	0.398													15	105					0	0	0	0	T	40917521	C	T	40917521	4	4	364	1	0	0	0	0	0	1	0	0	2688	827	29	2	5175	2	CASC5	15	40917521	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2125	40917521	61613871	1512	70441											
VPS18	57617	broad.mit.edu	37	chr15	41191637	41191637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtccagcacctgtgtgctcCcttgaggccgagcggggccc	4	7	15	15	2	0	1	0	1	0	0	2	2	2	1	5	4	3	2	5	4	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:41191637C>T	ENST00000220509.5	+	4	960	c.621C>T	c.(619-621)tcC>tcT	p.S207S	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	207					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTGTGTGCTCCCTTGAGGCCG	0.612													31	118					0	0	0	0	T	41191637	C	T	41191637	2	4	364	1	0	0	0	0	0	0	0	1	17290	610	22	4		4	VPS18	15	41191637	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	274116	41191637	61339755	1513	70442											
NDUFAF1	51103	broad.mit.edu	37	chr15	41687185	41687185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaccatccccacgtacacGgagatacagagtattgaact	13	7	8	13	3	0	3	0	1	0	2	1	5	1	3	4	1	3	2	4	1	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:41687185G>A	ENST00000260361.4	-	3	1012	c.631C>T	c.(631-633)Cgt>Tgt	p.R211C		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	211					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CCACGTACACGGAGATACAGA	0.433													35	35					0	0	0	0	A	41687185	G	A	41687185	3	1	364	1	0	0	0	0	1	0	0	0	10344	1116	39	1	364	1	NDUFAF1	15	41687185	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	495548	41687185	60844207	1514	70443											
LTK	4058	broad.mit.edu	37	chr15	41805298	41805298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaagtctcctgggaccccgGgctagagcagagaatggcgc	11	5	14	11	2	1	2	0	0	1	2	2	4	1	3	3	3	1	2	3	3	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:41805298G>A	ENST00000263800.6	-	2	160	c.64C>T	c.(64-66)Ccg>Tcg	p.P22S	LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Missense_Mutation_p.P22S|LTK_ENST00000355166.5_Missense_Mutation_p.P22S	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	22					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGGGACCCCGGGCTAGAGCAG	0.612										TSP Lung(18;0.14)			11	9					0	0	0	0	A	41805298	G	A	41805298	3	1	364	1	0	0	0	0	1	0	0	0	9144	1232	43	4	2606	4	LTK	15	41805298	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	118113	41805298	60726094	1515	70444											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42138473	42138473	+	Missense_Mutation	SNP	C	C	T																															caggatagctgagtttttcaCcgatcttctgacgtggcgtc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:42138473C>T	ENST00000382448.4	+	22	2375	c.2366C>T	c.(2365-2367)aCc>aTc	p.T789I	PLA2G4B_ENST00000452633.1_Missense_Mutation_p.T558I|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.T558I|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.T789I	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		558					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GAGTTTTTCACCGATCTTCTG	0.537													19	131					0	0	0	0	T	42138473	C	T	42138473	3	4	364	1	0	0	0	0	1	0	0	0	8008	507	18	4	2452	4	JMJD7-PLA2G4B	15	42138473	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	333175	42138473	60392919	1516	70445	938	2									
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42138474	42138474	+	Silent	SNP	C	C	T																															aggatagctgagtttttcacCgatcttctgacgtggcgtcc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:42138474C>T	ENST00000382448.4	+	22	2376	c.2367C>T	c.(2365-2367)acC>acT	p.T789T	PLA2G4B_ENST00000452633.1_Silent_p.T558T|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.T558T|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.T789T	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		558					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						AGTTTTTCACCGATCTTCTGA	0.532													19	132					0	0	0	0	T	42138474	C	T	42138474	2	4	364	1	0	0	0	0	0	0	0	1	8008	639	23	1		1	JMJD7-PLA2G4B	15	42138474	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	42138474	60392918	1517	70446	938	2									
SPTBN5	51332	broad.mit.edu	37	chr15	42149210	42149210	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggccgtcctgcgctcCtgcaggggctccctcaggct	3	8	13	17	2	1	0	1	0	0	0	5	0	5	0	5	4	2	4	5	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:42149210C>T	ENST00000320955.6	-	52	8876	c.8649G>A	c.(8647-8649)caG>caA	p.Q2883Q		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2883					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCTGCGCTCCTGCAGGGGCT	0.647													3	7					0	0	0	0	T	42149210	C	T	42149210	2	4	364	1	0	0	0	0	0	0	0	1	15212	680	24	4		4	SPTBN5	15	42149210	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	10736	42149210	60382182	1518	70447											
EHD4	30844	broad.mit.edu	37	chr15	42192957	42192957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaggtgcttggccagcgcGaactcctcctcatcaagcat	9	9	10	13	2	2	1	2	1	0	0	4	2	4	1	3	2	4	2	3	2	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:42192957G>A	ENST00000220325.4	-	6	1595	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	504	EF-hand.|EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TGGCCAGCGCGAACTCCTCCT	0.637													11	38					0	0	0	0	A	42192957	G	A	42192957	2	1	364	1	0	0	0	0	0	0	0	1	5016	1049	37	1		1	EHD4	15	42192957	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	43747	42192957	60338435	1519	70448											
TTBK2	146057	broad.mit.edu	37	chr15	43038027	43038027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tactggctggcttactcttcCcttggggggttttagtgctg	3	16	13	9	0	1	0	0	0	1	0	2	0	2	0	1	5	3	4	1	5	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:43038027C>T	ENST00000267890.6	-	15	3809	c.3701G>A	c.(3700-3702)gGg>gAg	p.G1234E		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1234					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTTACTCTTCCCTTGGGGGGT	0.537													85	97					0	0	0	0	T	43038027	C	T	43038027	3	4	364	1	0	0	0	0	1	0	0	0	16773	623	22	4	37	4	TTBK2	15	43038027	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	845070	43038027	59493365	1520	70449											
MAP1A	4130	broad.mit.edu	37	chr15	43815393	43815393	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccaagtacagctatccaGggaacaccaccctctgttcc	10	7	6	18	0	1	0	0	0	1	0	3	1	3	1	6	1	3	3	6	1	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:43815393G>A	ENST00000382031.1	+	5	2467	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	MAP1A_ENST00000300231.5_Silent_p.Q574Q|MAP1A_ENST00000399453.1_Silent_p.Q574Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	574						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGCTATCCAGGGAACACCAC	0.542													33	34					0	0	0	0	A	43815393	G	A	43815393	2	1	364	1	0	0	0	0	0	0	0	1	9296	991	35	4		4	MAP1A	15	43815393	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	777366	43815393	58715999	1521	70450											
MAP1A	4130	broad.mit.edu	37	chr15	43819158	43819158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaagctcatgccacacatGaagaatgaacccactactcc	14	7	5	15	0	1	3	1	2	0	1	2	3	2	3	4	0	4	1	4	0	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:43819158G>A	ENST00000382031.1	+	5	6232	c.6201G>A	c.(6199-6201)atG>atA	p.M2067I	MAP1A_ENST00000300231.5_Missense_Mutation_p.M1829I|MAP1A_ENST00000399453.1_Missense_Mutation_p.M1829I			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1829						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGCCACACATGAAGAATGAAC	0.602													29	105					0	0	0	0	A	43819158	G	A	43819158	3	1	364	1	0	0	0	0	1	0	0	0	9296	1290	45	2	5489	2	MAP1A	15	43819158	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3765	43819158	58712234	1522	70451											
SPG11	80208	broad.mit.edu	37	chr15	44881481	44881481	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgctctctttcaacaaaGagctgtaaaagcttccccag	13	10	7	11	0	2	2	1	0	1	2	4	2	3	2	2	0	4	4	2	0	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:44881481G>A	ENST00000261866.7	-	28	4891	c.4875C>T	c.(4873-4875)ctC>ctT	p.L1625L	SPG11_ENST00000558319.1_Silent_p.L1625L|SPG11_ENST00000427534.2_Silent_p.L1625L|SPG11_ENST00000535302.2_Silent_p.L1625L|SPG11_ENST00000558253.1_5'UTR	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1625					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTTCAACAAAGAGCTGTAAAA	0.408													16	77					0	0	0	0	A	44881481	G	A	44881481	2	1	364	1	0	0	0	0	0	0	0	1	15131	929	33	2		2	SPG11	15	44881481	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1062323	44881481	57649911	1523	70452											
DUOX1	53905	broad.mit.edu	37	chr15	45435411	45435411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctcagtgcctggattGttgcccggctccggatgaga	5	10	14	12	2	1	1	1	1	0	1	2	4	2	3	4	3	3	3	4	3	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:45435411G>T	ENST00000321429.4	+	17	2253	c.1846G>T	c.(1846-1848)Gtt>Ttt	p.V616F	DUOX1_ENST00000389037.3_Missense_Mutation_p.V616F|DUOX1_ENST00000561166.1_Missense_Mutation_p.V262F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	616					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCCTGGATTGTTGCCCGGCT	0.597													4	33					1	1	1	0	T	45435411	G	T	45435411	3	4	364	1	0	0	0	0	1	0	0	0	4836	1377	48	4	1904	4	DUOX1	15	45435411	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	553930	45435411	57095981	1524	70453											
C15orf48	84419	broad.mit.edu	37	chr15	45723009	45723009	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatcatgagctttttccaActcctgatgaaaaggaagga	13	11	9	8	0	2	3	2	3	0	0	4	5	4	5	2	2	2	1	2	2	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:45723009A>G	ENST00000344300.3	+	1	205	c.15A>G	c.(13-15)caA>caG	p.Q5Q	RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Silent_p.Q5Q	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	5						nucleus				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		GCTTTTTCCAACTCCTGATGA	0.368											OREG0023107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	39					0	0	0	0	G	45723009	A	G	45723009	2	3	364	1	0	0	0	0	0	0	0	1	1811	40	2	5		5	C15orf48	15	45723009	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	287598	45723009	56808383	1525	70454											
SLC30A4	7782	broad.mit.edu	37	chr15	45803391	45803391	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgattttgatgatagccaCaaagcaagcagggtgagtat	13	10	13	5	0	0	4	0	4	0	0	0	4	0	4	1	2	3	3	1	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:45803391C>A	ENST00000261867.4	-	3	797	c.483G>T	c.(481-483)ttG>ttT	p.L161F	HMGN2P46_ENST00000409454.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA|SLC30A4_ENST00000559667.1_5'UTR	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	161					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		ATGATAGCCACAAAGCAAGCA	0.373													43	333					1.00776e-21	1.04762e-21	1	0	A	45803391	C	A	45803391	3	1	364	1	0	0	0	0	1	0	0	0	14645	477	17	4	830	4	SLC30A4	15	45803391	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	80382	45803391	56728001	1526	70455											
SEMA6D	80031	broad.mit.edu	37	chr15	48058129	48058129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttggataaagatcaccaCgctttatatgtggcgttctc	10	13	9	9	2	2	1	1	0	1	1	3	2	2	2	1	2	0	3	1	2	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:48058129C>T	ENST00000316364.5	+	14	1930	c.1491C>T	c.(1489-1491)caC>caT	p.H497H	SEMA6D_ENST00000389432.2_Silent_p.H497H|SEMA6D_ENST00000358066.4_Silent_p.H497H|SEMA6D_ENST00000558816.1_Silent_p.H497H|SEMA6D_ENST00000558014.1_Silent_p.H497H|SEMA6D_ENST00000537942.1_Silent_p.H497H|SEMA6D_ENST00000536845.2_Silent_p.H497H|SEMA6D_ENST00000389433.2_Silent_p.H497H|SEMA6D_ENST00000355997.3_Silent_p.H497H|SEMA6D_ENST00000389428.3_Silent_p.H497H|SEMA6D_ENST00000354744.4_Silent_p.H497H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	497	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAGATCACCACGCTTTATATG	0.413													21	97					0	0	0	0	T	48058129	C	T	48058129	2	4	364	1	0	0	0	0	0	0	0	1	14129	535	19	1		1	SEMA6D	15	48058129	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2254738	48058129	54473263	1527	70456											
MYEF2	50804	broad.mit.edu	37	chr15	48460949	48460949	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccgaattcttgtcttttgaAtaaggatgaaatctattggc	11	15	8	7	1	3	2	0	2	3	0	3	4	3	3	1	2	0	0	1	2	5	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:48460949A>T	ENST00000324324.7	-	2	528	c.249T>A	c.(247-249)taT>taA	p.Y83*	MYEF2_ENST00000267836.6_Nonsense_Mutation_p.Y83*	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	83					transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGTCTTTTGAATAAGGATGAA	0.363													16	94					0	0	0	0	T	48460949	A	T	48460949	4	4	364	1	0	0	0	0	0	1	0	0	10094	108	4	5	1617	5	MYEF2	15	48460949	Nonsense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	402820	48460949	54070443	1528	70457											
CEP152	22995	broad.mit.edu	37	chr15	49030960	49030960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattttcactttccattagtGgattgcatttatatactttt	9	21	4	7	0	1	0	1	0	0	0	2	1	2	1	1	1	2	1	1	1	4	11			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:49030960G>A	ENST00000380950.2	-	27	4806	c.4619C>T	c.(4618-4620)cCa>cTa	p.P1540L	CEP152_ENST00000399334.3_Missense_Mutation_p.P1484L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1484					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCCATTAGTGGATTGCATTT	0.418													10	87					0	0	0	0	A	49030960	G	A	49030960	3	1	364	1	0	0	0	0	1	0	0	0	3277	1348	47	4	517	4	CEP152	15	49030960	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	570011	49030960	53500432	1529	70458											
SECISBP2L	9728	broad.mit.edu	37	chr15	49284871	49284871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccaaagagccagtctctGtactctgctgtgaggcccat	9	10	9	13	0	2	2	0	1	2	1	4	2	3	2	3	1	3	2	3	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:49284871G>T	ENST00000559471.1	-	18	3139	c.2876C>A	c.(2875-2877)aCa>aAa	p.T959K	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.T914K	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	959										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GCCAGTCTCTGTACTCTGCTG	0.498													19	94					3.32936e-07	3.3831e-07	1	0	T	49284871	G	T	49284871	3	4	364	1	0	0	0	0	1	0	0	0	14094	1377	48	4	433	4	SECISBP2L	15	49284871	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	253911	49284871	53246521	1530	70459											
COPS2	9318	broad.mit.edu	37	chr15	49436470	49436470	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcagtgctttaaatcccCattctcctttttcaccttca	7	18	3	13	0	4	0	3	0	1	0	6	0	5	0	4	0	1	2	4	0	2	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:49436470C>T	ENST00000388901.5	-	3	273	c.200G>A	c.(199-201)tGg>tAg	p.W67*	COPS2_ENST00000542928.1_Intron|COPS2_ENST00000299259.6_Nonsense_Mutation_p.W67*	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	67					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TTTAAATCCCCATTCTCCTTT	0.289													31	63					0	0	0	0	T	49436470	C	T	49436470	4	4	364	1	0	0	0	0	0	1	0	0	3763	595	21	4	1196	4	COPS2	15	49436470	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	151599	49436470	53094922	1531	70460											
CYP19A1	1588	broad.mit.edu	37	chr15	51534993	51534993	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggatgtgccctcataattCcacaccaagagaaaaaggcc	15	6	9	11	0	1	1	1	0	0	1	2	4	2	2	4	2	1	0	4	2	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:51534993C>T	ENST00000396402.1	-	2	270	c.117G>A	c.(115-117)tgG>tgA	p.W39*	CYP19A1_ENST00000405913.3_Nonsense_Mutation_p.W39*|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Nonsense_Mutation_p.W39*|CYP19A1_ENST00000557858.1_Nonsense_Mutation_p.W39*|CYP19A1_ENST00000260433.2_Nonsense_Mutation_p.W39*|CYP19A1_ENST00000559878.1_Nonsense_Mutation_p.W39*	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	39			W -> R (in dbSNP:rs2236722).		estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CCTCATAATTCCACACCAAGA	0.443													34	30					0	0	0	0	T	51534993	C	T	51534993	4	4	364	1	0	0	0	0	0	1	0	0	4180	856	30	2	1430	2	CYP19A1	15	51534993	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2098523	51534993	50996399	1532	70461											
WDR72	256764	broad.mit.edu	37	chr15	53901735	53901735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagactggtctctccaacagGaaattagcttcaaaagtgaa	15	9	8	9	0	2	2	1	1	1	1	4	3	3	3	1	2	2	1	1	2	6	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:53901735G>A	ENST00000396328.1	-	17	3166	c.2927C>T	c.(2926-2928)tCc>tTc	p.S976F	WDR72_ENST00000557913.1_Missense_Mutation_p.S973F|WDR72_ENST00000360509.5_Missense_Mutation_p.S976F|WDR72_ENST00000559418.1_Missense_Mutation_p.S986F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	976										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCTCCAACAGGAAATTAGCTT	0.388													14	33					0	0	0	0	A	53901735	G	A	53901735	3	1	364	1	0	0	0	0	1	0	0	0	17418	1174	41	2	397	2	WDR72	15	53901735	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2366742	53901735	48629657	1533	70462											
RFX7	64864	broad.mit.edu	37	chr15	56535387	56535387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcagcccgggcacaaGggctggcagggccacccccg	6	2	15	18	2	0	0	0	0	0	0	0	0	0	0	5	5	1	4	5	5	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:56535387G>A	ENST00000423270.1	-	1	96	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	RFX7_ENST00000422057.1_5'UTR|RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000317318.6_Missense_Mutation_p.L33F	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	680					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCGGGCACAAGGGCTGGCAGG	0.637													3	19					0	0	0	0	A	56535387	G	A	56535387	3	1	364	1	0	0	0	0	1	0	0	0	13350	1000	35	4	4321	4	RFX7	15	56535387	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2633652	56535387	45996005	1534	70463											
MNS1	55329	broad.mit.edu	37	chr15	56756290	56756291	+	Frame_Shift_Del	DEL	GC	GC	-																															aataatctgagaaattgcttGcgctgaacacggttatcatt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:56756290_56756291delGC	ENST00000260453.3	-	2	322_323	c.158_159delGC	c.(157-159)cfs	p.R53fs		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	53					meiosis			p.R53H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		GAAATTGCTTGCGCTGAACACG	0.327													83	112	---	---	---	---					-	56756291	GC	-	56756290	7	5	364	1	0	1	0	1	0	0	0	0	9747	1306	46	0	1364	0	MNS1	15	56756290	Frame_Shift_Del	DEL	GC	TCGA-D6-6516-01A-11D-1870-08	220903	56756290	45775102	1535	70464											
ZNF280D	54816	broad.mit.edu	37	chr15	56981653	56981653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggacgttttgataaaaatGaactttcactcatacctaca	16	12	5	8	1	2	2	2	2	0	0	2	3	2	3	1	1	3	1	1	1	7	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:56981653G>A	ENST00000559237.1	-	7	1159	c.476C>T	c.(475-477)tCa>tTa	p.S159L	ZNF280D_ENST00000559000.1_Missense_Mutation_p.S159L|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000267807.7_Missense_Mutation_p.S172L	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S172*(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGATAAAAATGAACTTTCACT	0.279													4	42					0	0	0	0	A	56981653	G	A	56981653	3	1	364	1	0	0	0	0	1	0	0	0	17912	1294	45	2	2484	2	ZNF280D	15	56981653	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	225363	56981653	45549739	1536	70465											
RNF111	54778	broad.mit.edu	37	chr15	59383308	59383308	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgtcaatcgtggagcatcCcaggggacaattgaaagatg	14	8	12	7	1	1	2	1	1	0	1	3	4	2	4	1	3	1	1	1	3	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:59383308C>T	ENST00000348370.4	+	12	3127	c.2694C>T	c.(2692-2694)tcC>tcT	p.S898S	RNF111_ENST00000559209.1_Silent_p.S907S|RNF111_ENST00000557998.1_Silent_p.S898S|RNF111_ENST00000434298.1_Silent_p.S907S|RNF111_ENST00000561186.1_Silent_p.S907S	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	898					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GTGGAGCATCCCAGGGGACAA	0.338													29	169					0	0	0	0	T	59383308	C	T	59383308	2	4	364	1	0	0	0	0	0	0	0	1	13510	610	22	4		4	RNF111	15	59383308	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2401655	59383308	43148084	1537	70466											
FAM81A	145773	broad.mit.edu	37	chr15	59752317	59752317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagaaaatgcaaaacaaagGgggaggtgaccgcttggcca	15	4	14	8	1	0	2	0	1	0	1	0	3	0	3	2	4	2	3	2	4	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:59752317G>A	ENST00000288228.5	+	3	393	c.206G>A	c.(205-207)gGg>gAg	p.G69E		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	69										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						CAAAACAAAGGGGGAGGTGAC	0.478													26	125					0	0	0	0	A	59752317	G	A	59752317	3	1	364	1	0	0	0	0	1	0	0	0	5674	1232	43	4	212	4	FAM81A	15	59752317	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	369009	59752317	42779075	1538	70467											
VPS13C	54832	broad.mit.edu	37	chr15	62165597	62165597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgattcgagatacaactcCtgctgcaccacctatcaaag	12	9	8	12	1	1	2	1	1	0	1	3	3	2	2	3	1	4	2	3	1	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:62165597C>T	ENST00000261517.5	-	78	10499	c.10426G>A	c.(10426-10428)Gga>Aga	p.G3476R	VPS13C_ENST00000395898.3_Missense_Mutation_p.G3433R|VPS13C_ENST00000249837.3_Missense_Mutation_p.G3433R|VPS13C_ENST00000395896.4_Missense_Mutation_p.G3476R	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3476					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GATACAACTCCTGCTGCacca	0.373													24	183					0	0	0	0	T	62165597	C	T	62165597	3	4	364	1	0	0	0	0	1	0	0	0	17287	690	24	4	895	4	VPS13C	15	62165597	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2413280	62165597	40365795	1539	70468											
HERC1	8925	broad.mit.edu	37	chr15	63943520	63943520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atttgccactgatactccagGaaactggtgagaaacttgga	13	10	10	8	0	0	2	0	2	0	1	1	5	1	4	2	3	4	0	2	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:63943520G>A	ENST00000443617.2	-	53	10565	c.10478C>T	c.(10477-10479)tCc>tTc	p.S3493F		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3493					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GATACTCCAGGAAACTGGTGA	0.438													31	78					0	0	0	0	A	63943520	G	A	63943520	3	1	364	1	0	0	0	0	1	0	0	0	7107	1174	41	2	4211	2	HERC1	15	63943520	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1777923	63943520	38587872	1540	70469											
IGDCC3	9543	broad.mit.edu	37	chr15	65622173	65622173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtctggttggcggcctcctCcttccggcagtcacatggtg	3	11	13	14	3	2	0	1	0	1	0	5	0	5	0	4	5	0	2	4	5	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:65622173C>T	ENST00000327987.4	-	12	2139	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	630										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCGGCCTCCTCCTTCCGGCAG	0.612													15	61					0	0	0	0	T	65622173	C	T	65622173	3	4	364	1	0	0	0	0	1	0	0	0	7621	864	30	2	568	2	IGDCC3	15	65622173	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1678653	65622173	36909219	1541	70470											
TIPIN	54962	broad.mit.edu	37	chr15	66645208	66645209	+	Frame_Shift_Del	DEL	GA	GA	-																															tctggagaggctggaggtggGaaaggaggaaaagtttcatc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:66645208_66645209delGA	ENST00000261881.4	-	2	162_163	c.77_78delTC	c.(76-78)tfs	p.F26fs	TIPIN_ENST00000367709.4_5'UTR	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	26					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						CTGGAGGTGGGAAAGGAGGAAA	0.455													42	72	---	---	---	---					-	66645209	GA	-	66645208	7	5	364	1	0	1	0	1	0	0	0	0	16019	1165	41	0	855	0	TIPIN	15	66645208	Frame_Shift_Del	DEL	GA	TCGA-D6-6516-01A-11D-1870-08	1023035	66645208	35886184	1542	70471											
MYO9A	4649	broad.mit.edu	37	chr15	72141213	72141213	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaatcagtgacaacctGgtctttgccttattctcagc	9	13	7	12	1	3	1	2	1	2	0	4	2	3	1	2	1	4	0	2	1	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:72141213G>T	ENST00000356056.5	-	39	7282	c.6810C>A	c.(6808-6810)acC>acA	p.T2270T	MYO9A_ENST00000444904.1_Silent_p.T2251T|MYO9A_ENST00000424560.1_Silent_p.T2341T|MYO9A_ENST00000564571.1_Silent_p.T2270T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2270	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTGACAACCTGGTCTTTGCCT	0.383													14	75					2.62699e-14	2.70699e-14	1	0	T	72141213	G	T	72141213	2	4	364	1	0	0	0	0	0	0	0	1	10154	1335	47	4		4	MYO9A	15	72141213	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5496005	72141213	30390179	1543	70472											
BBS4	585	broad.mit.edu	37	chr15	73028232	73028232	+	Silent	SNP	C	C	A																															cagggcgagaagaagaacgcCctggcccaatatcaggagat																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:73028232C>A	ENST00000268057.4	+	14	1214	c.1173C>A	c.(1171-1173)gcC>gcA	p.A391A	BBS4_ENST00000539603.1_Silent_p.A379A|BBS4_ENST00000395205.2_Silent_p.A399A|BBS4_ENST00000542334.1_Silent_p.A219A	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	391	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						AGAAGAACGCCCTGGCCCAAT	0.483									Bardet-Biedl syndrome				30	149					5.45727e-16	5.63848e-16	1	0	A	73028232	C	A	73028232	2	1	364	1	0	0	0	0	0	0	0	1	1343	610	22	4		4	BBS4	15	73028232	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	887019	73028232	29503160	1544	70473	939	2									
BBS4	585	broad.mit.edu	37	chr15	73028238	73028238	+	Silent	SNP	C	C	T																															gagaagaagaacgccctggcCcaatatcaggagatggagaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:73028238C>T	ENST00000268057.4	+	14	1220	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	BBS4_ENST00000539603.1_Silent_p.A381A|BBS4_ENST00000395205.2_Silent_p.A401A|BBS4_ENST00000542334.1_Silent_p.A221A	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	393	Required for localization to centrosomes.		A -> V (in dbSNP:rs17852452).		adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ACGCCCTGGCCCAATATCAGG	0.463									Bardet-Biedl syndrome				81	91					0	0	0	0	T	73028238	C	T	73028238	2	4	364	1	0	0	0	0	0	0	0	1	1343	610	22	4		4	BBS4	15	73028238	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	6	73028238	29503154	1545	70474	939	2									
GOLGA6A	342096	broad.mit.edu	37	chr15	74365149	74365149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctggtggctggcagcttCtaggtgctcctaaggggacg	5	11	16	9	1	2	0	0	0	2	0	3	1	3	1	1	6	2	5	1	6	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74365149C>T	ENST00000290438.3	-	13	1475	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	479										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						CTGGCAGCTTCTAGGTGCTCC	0.617													18	102					0	0	0	0	T	74365149	C	T	74365149	3	4	364	1	0	0	0	0	1	0	0	0	6608	922	32	2	670	2	GOLGA6A	15	74365149	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1336911	74365149	28166243	1546	70475											
ISLR2	57611	broad.mit.edu	37	chr15	74425963	74425963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagccaccggttctgagcGgggaggacgacggggttggg	7	6	20	8	4	1	2	0	1	1	1	1	5	1	4	2	7	2	2	2	7	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74425963G>A	ENST00000361742.3	+	4	1637	c.868G>A	c.(868-870)Ggg>Agg	p.G290R	ISLR2_ENST00000445793.1_Missense_Mutation_p.G290R|ISLR2_ENST00000435464.1_Missense_Mutation_p.G290R|ISLR2_ENST00000419208.1_Missense_Mutation_p.G290R|ISLR2_ENST00000565159.1_Missense_Mutation_p.G290R|ISLR2_ENST00000565540.1_Missense_Mutation_p.G290R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.G290R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	290	Ig-like.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGTTCTGAGCggggaggacga	0.637													4	21					0	0	0	0	A	74425963	G	A	74425963	3	1	364	1	0	0	0	0	1	0	0	0	7912	1116	39	1	870	1	ISLR2	15	74425963	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	60814	74425963	28105429	1547	70476											
ISLR2	57611	broad.mit.edu	37	chr15	74427025	74427025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagaagcgcatcgccgcaGacttcgacccgcgtgcttcg	7	7	13	14	7	0	2	0	0	0	2	3	4	0	2	2	1	2	3	2	1	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74427025G>A	ENST00000361742.3	+	4	2699	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	ISLR2_ENST00000445793.1_Missense_Mutation_p.D644N|ISLR2_ENST00000435464.1_Missense_Mutation_p.D644N|ISLR2_ENST00000419208.1_Missense_Mutation_p.D644N|ISLR2_ENST00000565159.1_Missense_Mutation_p.D644N|ISLR2_ENST00000565540.1_Missense_Mutation_p.D644N|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.D644N	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	644					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CATCGCCGCAGACTTCGACCC	0.687											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	47					0	0	0	0	A	74427025	G	A	74427025	3	1	364	1	0	0	0	0	1	0	0	0	7912	942	33	2	1932	2	ISLR2	15	74427025	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1062	74427025	28104367	1548	70477											
ISLR	3671	broad.mit.edu	37	chr15	74467477	74467477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgcacggtggccgccggagCcctggcctctctgagccatc	4	6	13	18	4	1	1	0	1	1	0	3	2	1	2	6	4	2	1	6	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74467477C>T	ENST00000249842.3	+	2	635	c.278C>T	c.(277-279)gCc>gTc	p.A93V	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.A93V	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	93					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCGCCGGAGCCCTGGCCTCT	0.632													6	50					0	0	0	0	T	74467477	C	T	74467477	3	4	364	1	0	0	0	0	1	0	0	0	7911	739	26	4	280	4	ISLR	15	74467477	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	40452	74467477	28063915	1549	70478											
CCDC33	80125	broad.mit.edu	37	chr15	74565168	74565168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgcccatcaccccactgtCcttccctatcccgtccatga	6	10	5	20	1	1	1	1	1	0	0	5	1	5	1	7	0	1	1	7	0	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74565168C>T	ENST00000321288.5	+	9	1304	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	CCDC33_ENST00000398814.3_Missense_Mutation_p.S232F			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	435							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACCCCACTGTCCTTCCCTATC	0.617													16	76					0	0	0	0	T	74565168	C	T	74565168	3	4	364	1	0	0	0	0	1	0	0	0	2832	855	30	2	721	2	CCDC33	15	74565168	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	97691	74565168	27966224	1550	70479											
C15orf39	56905	broad.mit.edu	37	chr15	75503393	75503393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcccacctggggccacaagtCctcaagaccagaccagccct	10	4	9	18	0	1	2	1	0	0	2	2	2	2	2	7	2	1	0	7	2	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:75503393C>T	ENST00000360639.2	+	3	3400	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	C15orf39_ENST00000394987.4_Missense_Mutation_p.S1027F|C15orf39_ENST00000567617.1_3'UTR			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	1027										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCACAAGTCCTCAAGACCA	0.637													7	30					0	0	0	0	T	75503393	C	T	75503393	3	4	364	1	0	0	0	0	1	0	0	0	1805	855	30	2	3086	2	C15orf39	15	75503393	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	938225	75503393	27027999	1551	70480											
SIN3A	25942	broad.mit.edu	37	chr15	75702498	75702498	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgttggcatctggtaGgaattgtccaaactctgaca	10	11	12	8	0	2	1	0	1	2	0	3	3	3	3	1	4	2	4	1	4	3	3	rs139503359		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:75702498G>A	ENST00000394947.3	-	7	1452	c.1138C>T	c.(1138-1140)Cta>Tta	p.L380L	SIN3A_ENST00000360439.4_Silent_p.L380L|SIN3A_ENST00000394949.4_Silent_p.L380L	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	380	Interaction with REST (By similarity).|PAH 2.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GCATCTGGTAGGAATTGTCCA	0.403													20	109					0	0	0	0	A	75702498	G	A	75702498	2	1	364	1	0	0	0	0	0	0	0	1	14413	991	35	4		4	SIN3A	15	75702498	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	199105	75702498	26828894	1552	70481											
LINGO1	84894	broad.mit.edu	37	chr15	77906818	77906818	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctccagcgtgccatcaggGaagactgtgagccgcccatt	9	7	11	14	2	1	2	1	1	0	1	2	3	2	3	5	1	3	0	5	1	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:77906818G>A	ENST00000355300.6	-	2	1605	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	LINGO1_ENST00000561030.1_Silent_p.F471F	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	477	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TGCCATCAGGGAAGACTGTGA	0.677													6	40					0	0	0	0	A	77906818	G	A	77906818	2	1	364	1	0	0	0	0	0	0	0	1	8869	1165	41	2		2	LINGO1	15	77906818	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2204320	77906818	24624574	1553	70482											
KIAA1024	23251	broad.mit.edu	37	chr15	79750223	79750223	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaacagcaagggagacaaGggcaaccggcctgaaaacac	16	1	11	13	1	0	2	0	1	0	1	0	3	0	2	3	3	4	2	3	3	6	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:79750223G>A	ENST00000305428.3	+	2	1809	c.1734G>A	c.(1732-1734)aaG>aaA	p.K578K		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	578						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGGGAGACAAGGGCAACCGGC	0.522													42	32					0	0	0	0	A	79750223	G	A	79750223	2	1	364	1	0	0	0	0	0	0	0	1	8256	991	35	4		4	KIAA1024	15	79750223	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1843405	79750223	22781169	1554	70483											
IL16	3603	broad.mit.edu	37	chr15	81584977	81584977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaactcagcacccccgcatCgcagggctcagaaggtcatg	11	5	11	14	2	3	2	3	0	0	2	4	2	3	2	2	2	2	4	2	2	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:81584977C>T	ENST00000394660.2	+	12	1861	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	IL16_ENST00000302987.4_Missense_Mutation_p.R501C	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	501					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACCCCCGCATCGCAGGGCTCA	0.602													15	58					0	0	0	0	T	81584977	C	T	81584977	3	4	364	1	0	0	0	0	1	0	0	0	7686	884	31	1	1543	1	IL16	15	81584977	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1834754	81584977	20946415	1555	70484											
CPEB1	64506	broad.mit.edu	37	chr15	83226687	83226687	+	Silent	SNP	G	G	A																															tccagaggcaggaagctcaaGgggggttttcctaggacatt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:83226687G>A	ENST00000563800.1	-	4	2235	c.510C>T	c.(508-510)ccC>ccT	p.P170P	CPEB1_ENST00000450751.2_Silent_p.P68P|CPEB1_ENST00000423133.2_Silent_p.P68P|CPEB1_ENST00000398591.2_Silent_p.P68P|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000261723.6_Silent_p.P146P|CPEB1_ENST00000568757.1_Silent_p.P68P|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Silent_p.P143P|CPEB1_ENST00000564522.1_Silent_p.P68P|CPEB1_ENST00000562019.1_Silent_p.P143P			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	143					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGAAGCTCAAGGGGGGTTTTC	0.532													48	33					0	0	0	0	A	83226687	G	A	83226687	2	1	364	1	0	0	0	0	0	0	0	1	3830	987	35	4		4	CPEB1	15	83226687	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1641710	83226687	19304705	1556	70485	940	2									
CPEB1	64506	broad.mit.edu	37	chr15	83226688	83226688	+	Missense_Mutation	SNP	G	G	A																															ccagaggcaggaagctcaagGggggttttcctaggacattt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:83226688G>A	ENST00000563800.1	-	4	2234	c.509C>T	c.(508-510)cCc>cTc	p.P170L	CPEB1_ENST00000450751.2_Missense_Mutation_p.P68L|CPEB1_ENST00000423133.2_Missense_Mutation_p.P68L|CPEB1_ENST00000398591.2_Missense_Mutation_p.P68L|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000261723.6_Missense_Mutation_p.P146L|CPEB1_ENST00000568757.1_Missense_Mutation_p.P68L|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.P143L|CPEB1_ENST00000564522.1_Missense_Mutation_p.P68L|CPEB1_ENST00000562019.1_Missense_Mutation_p.P143L			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	143					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAAGCTCAAGGGGGGTTTTCC	0.527													48	36					0	0	0	0	A	83226688	G	A	83226688	3	1	364	1	0	0	0	0	1	0	0	0	3830	1232	43	4	1308	4	CPEB1	15	83226688	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	83226688	19304704	1557	70486	940	2									
AP3B2	8120	broad.mit.edu	37	chr15	83331552	83331552	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggagaagtggatgtgcacGgacaccatgtggggatcccc	9	8	15	9	1	0	1	0	0	0	1	1	5	1	4	3	5	1	1	3	5	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:83331552G>A	ENST00000261722.3	-	22	2877	c.2670C>T	c.(2668-2670)tcC>tcT	p.S890S	AP3B2_ENST00000535359.1_Silent_p.S909S|AP3B2_ENST00000535348.1_Silent_p.S858S|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	890					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGATGTGCACGGACACCATGT	0.612													25	8					0	0	0	0	A	83331552	G	A	83331552	2	1	364	1	0	0	0	0	0	0	0	1	746	1103	39	1		1	AP3B2	15	83331552	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	104864	83331552	19199840	1558	70487											
AP3B2	8120	broad.mit.edu	37	chr15	83335576	83335576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catggcggctgagggccccaCcctgctcggaagggacgatg	7	5	16	13	3	0	1	0	1	0	0	1	4	0	3	3	5	1	2	3	5	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:83335576C>T	ENST00000261722.3	-	15	1982	c.1775G>A	c.(1774-1776)gGt>gAt	p.G592D	AP3B2_ENST00000535359.1_Missense_Mutation_p.G592D|AP3B2_ENST00000535348.1_Missense_Mutation_p.G560D|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	592					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAGGGCCCCACCCTGCTCGGA	0.572													33	65					0	0	0	0	T	83335576	C	T	83335576	3	4	364	1	0	0	0	0	1	0	0	0	746	507	18	4	1521	4	AP3B2	15	83335576	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4024	83335576	19195816	1559	70488											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84568476	84568476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaccagaatagcaacagaaGaaccaacgtgagtccaggac	18	3	10	10	1	0	5	0	1	0	4	1	6	1	6	3	1	4	1	3	1	6	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:84568476G>A	ENST00000286744.5	+	15	1917	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E565K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	565	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCAACAGAAGAACCAACGTG	0.373													11	3					0	0	0	0	A	84568476	G	A	84568476	3	1	364	1	0	0	0	0	1	0	0	0	276	943	33	2	1747	2	ADAMTSL3	15	84568476	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1232900	84568476	17962916	1560	70489											
ALPK3	57538	broad.mit.edu	37	chr15	85382230	85382230	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatacccagagccagaggtGacctggtacaaggatgatac	13	6	13	9	0	0	4	0	2	0	2	0	6	0	6	3	4	4	1	3	4	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:85382230G>T	ENST00000258888.5	+	4	1097	c.930G>T	c.(928-930)gtG>gtT	p.V310V		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	310	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCCAGAGGTGACCTGGTACA	0.552													12	20					1.49906e-05	1.51926e-05	1	0	T	85382230	G	T	85382230	2	4	364	1	0	0	0	0	0	0	0	1	546	1277	45	2		2	ALPK3	15	85382230	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	813754	85382230	17149162	1561	70490											
SEMA4B	10509	broad.mit.edu	37	chr15	90770854	90770854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcgcgtcttcggttgtgtCcccgtcttttgtaccaacag	5	13	10	13	4	2	0	0	0	2	0	4	0	3	0	3	1	3	2	3	1	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:90770854C>T	ENST00000411539.2	+	13	2014	c.1754C>T	c.(1753-1755)tCc>tTc	p.S585F	SEMA4B_ENST00000332496.6_Missense_Mutation_p.S585F|SEMA4B_ENST00000379122.3_Missense_Mutation_p.S580F	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCGGTTGTGTCCCCGTCTTTT	0.592													16	40					0	0	0	0	T	90770854	C	T	90770854	3	4	364	1	0	0	0	0	1	0	0	0	14119	855	30	2	1804	2	SEMA4B	15	90770854	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5388624	90770854	11760538	1562	70491											
CHD2	1106	broad.mit.edu	37	chr15	93527664	93527664	+	Silent	SNP	G	G	A																															caaaggaaaaaagtagaggaGgaagagcggcagaaggagct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:93527664G>A	ENST00000394196.4	+	25	4239	c.3171G>A	c.(3169-3171)gaG>gaA	p.E1057E	CHD2_ENST00000557381.1_Silent_p.E1057E	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1057	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGTAGAGGAGGAAGAGCGGC	0.413													26	7					0	0	0	0	A	93527664	G	A	93527664	2	1	364	1	0	0	0	0	0	0	0	1	3354	991	35	4		4	CHD2	15	93527664	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2756810	93527664	9003728	1563	70492	941	2									
CHD2	1106	broad.mit.edu	37	chr15	93527665	93527665	+	Missense_Mutation	SNP	G	G	A																															aaaggaaaaaagtagaggagGaagagcggcagaaggagcta																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:93527665G>A	ENST00000394196.4	+	25	4240	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K	CHD2_ENST00000557381.1_Missense_Mutation_p.E1058K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1058	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGTAGAGGAGGAAGAGCGGCA	0.413													25	7					0	0	0	0	A	93527665	G	A	93527665	3	1	364	1	0	0	0	0	1	0	0	0	3354	1175	41	2	3270	2	CHD2	15	93527665	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	93527665	9003727	1564	70493	941	2									
SPATA8	145946	broad.mit.edu	37	chr15	97326937	97326937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaactcctgtctctaccagGaaattgccccctcttttcag	9	12	5	15	0	3	0	1	0	2	0	5	1	4	1	4	1	3	0	4	1	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:97326937G>A	ENST00000328504.3	+	1	319	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	SPATA8_ENST00000558553.1_Intron	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	18										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCTACCAGGAAATTGCCCC	0.552													21	47					0	0	0	0	A	97326937	G	A	97326937	3	1	364	1	0	0	0	0	1	0	0	0	15105	1175	41	2	54	2	SPATA8	15	97326937	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3799272	97326937	5204455	1565	70494											
IGF1R	3480	broad.mit.edu	37	chr15	99467122	99467122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaaggagcagatgacattCctgggccagtgacctgggag	11	6	15	9	0	0	4	0	2	0	2	1	6	1	6	3	3	1	1	3	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:99467122C>T	ENST00000268035.6	+	12	3114	c.2503C>T	c.(2503-2505)Cct>Tct	p.P835S	IGF1R_ENST00000558762.1_Missense_Mutation_p.P835S	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	835	Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AGATGACATTCCTGGGCCAGT	0.473													47	25					0	0	0	0	T	99467122	C	T	99467122	3	4	364	1	0	0	0	0	1	0	0	0	7624	855	30	2	2549	2	IGF1R	15	99467122	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2140185	99467122	3064270	1566	70495											
ADAMTS17	170691	broad.mit.edu	37	chr15	100514651	100514651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catcttgtttgcatagaagtCcctgcaggtctggcagcagc	8	11	11	11	0	2	1	0	0	2	1	3	1	3	1	1	2	4	5	1	2	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:100514651C>T	ENST00000268070.4	-	22	3349	c.3244G>A	c.(3244-3246)Gac>Aac	p.D1082N		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	1082	PLAC.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCATAGAAGTCCCTGCAGGTC	0.587													8	55					0	0	0	0	T	100514651	C	T	100514651	3	4	364	1	0	0	0	0	1	0	0	0	262	855	30	2	47	2	ADAMTS17	15	100514651	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1047529	100514651	2016741	1567	70496											
LRRK1	79705	broad.mit.edu	37	chr15	101528995	101528995	+	Missense_Mutation	SNP	C	C	T																															ccctgtcatcgtgcgcttgcCcctgtatgcggccatcaagt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101528995C>T	ENST00000284395.5	+	6	981	c.581C>T	c.(580-582)cCc>cTc	p.P194L	LRRK1_ENST00000532029.2_Missense_Mutation_p.P197L|LRRK1_ENST00000388948.3_Missense_Mutation_p.P197L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	197					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGCGCTTGCCCCTGTATGCG	0.592													14	7					0	0	0	0	T	101528995	C	T	101528995	3	4	364	1	0	0	0	0	1	0	0	0	9096	623	22	4	604	4	LRRK1	15	101528995	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1014344	101528995	1002397	1568	70497	942	2									
LRRK1	79705	broad.mit.edu	37	chr15	101528996	101528996	+	Silent	SNP	C	C	T																															cctgtcatcgtgcgcttgccCctgtatgcggccatcaagtc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101528996C>T	ENST00000284395.5	+	6	982	c.582C>T	c.(580-582)ccC>ccT	p.P194P	LRRK1_ENST00000532029.2_Silent_p.P197P|LRRK1_ENST00000388948.3_Silent_p.P197P			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	197					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCGCTTGCCCCTGTATGCGG	0.587													15	7					0	0	0	0	T	101528996	C	T	101528996	2	4	364	1	0	0	0	0	0	0	0	1	9096	610	22	4		4	LRRK1	15	101528996	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	101528996	1002396	1569	70498	942	2									
LRRK1	79705	broad.mit.edu	37	chr15	101592030	101592030	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagaaatcagaggatgTgcagtacttcgacatggaag	14	8	13	6	1	1	2	1	1	0	2	2	6	1	4	0	2	2	2	0	2	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101592030T>G	ENST00000284395.5	+	25	3945	c.3545T>G	c.(3544-3546)gTg>gGg	p.V1182G	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.V1185G			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1185					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCAGAGGATGTGCAGTACTTC	0.642													11	25					0	0	0	0	G	101592030	T	G	101592030	3	3	364	1	0	0	0	0	1	0	0	0	9096	1696	59	5	3644	5	LRRK1	15	101592030	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	63034	101592030	939362	1570	70499											
LRRK1	79705	broad.mit.edu	37	chr15	101606368	101606368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcagccagcacctgcaggCcgtgaagatcctcgccgtca	8	7	10	16	3	2	2	2	1	0	1	4	2	3	2	5	1	3	2	5	1	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101606368C>T	ENST00000284395.5	+	33	6117	c.5717C>T	c.(5716-5718)gCc>gTc	p.A1906V	LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.A1909V			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1909					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACCTGCAGGCCGTGAAGATC	0.637													14	68					0	0	0	0	T	101606368	C	T	101606368	3	4	364	1	0	0	0	0	1	0	0	0	9096	739	26	4	5848	4	LRRK1	15	101606368	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	14338	101606368	925024	1571	70500											
PCSK6	5046	broad.mit.edu	37	chr15	101906410	101906410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagccactgaccttgcttctCcgggttgcggacctgggatg	5	10	14	12	2	1	1	0	1	1	0	2	4	1	3	4	3	3	2	4	3	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101906410C>T	ENST00000348070.1	-	14	1845	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	PCSK6_ENST00000398181.2_Missense_Mutation_p.E616K|PCSK6_ENST00000358417.3_Missense_Mutation_p.E616K|PCSK6_ENST00000331826.7_Missense_Mutation_p.E451K|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.E616K	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	617	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTTGCTTCTCCGGGTTGCGG	0.488													8	18					0	0	0	0	T	101906410	C	T	101906410	3	4	364	1	0	0	0	0	1	0	0	0	11675	864	30	2	1529	2	PCSK6	15	101906410	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	300042	101906410	624982	1572	70501											
AXIN1	8312	broad.mit.edu	37	chr16	343668	343668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggcccaggggtgctcaaggGacaagggtctggagttctca	8	7	16	10	1	3	0	2	0	2	0	4	2	3	2	1	6	1	2	1	6	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:343668G>A	ENST00000262320.3	-	8	2377	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F	AXIN1_ENST00000354866.3_Missense_Mutation_p.S669F	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	669	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GTGCTCAAGGGACAAGGGTCT	0.642													58	113					0	0	0	0	A	343668	G	A	343668	3	1	364	1	0	0	0	0	1	0	0	0	1240	1174	41	2	598	2	AXIN1	16	343668	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08		343668	90011085	1573	70502											
AXIN1	8312	broad.mit.edu	37	chr16	396971	396971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgggggtcggggagcatCttcggtgaaacttgctccga	7	9	15	10	3	1	1	0	1	1	0	4	3	2	2	1	5	3	2	1	5	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:396971C>T	ENST00000262320.3	-	2	426	c.55G>A	c.(55-57)Gat>Aat	p.D19N	AXIN1_ENST00000354866.3_Missense_Mutation_p.D19N|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	19					activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CGGGGAGCATCTTCGGTGAAA	0.567													32	54					0	0	0	0	T	396971	C	T	396971	3	4	364	1	0	0	0	0	1	0	0	0	1240	913	32	2	2573	2	AXIN1	16	396971	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	53303	396971	89957782	1574	70503											
MSLNL	401827	broad.mit.edu	37	chr16	819554	819554	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acagaaaccaggatgcaagtCccccagtgcagcaggcacag	14	3	11	13	0	0	1	0	0	0	1	1	2	1	2	3	2	4	4	3	2	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:819554C>T	ENST00000293892.3	-	16	3035	c.3036G>A	c.(3034-3036)ggG>ggA	p.G1012G	MSLNL_ENST00000442466.1_Silent_p.G661G			Q96KJ4	MSLNL_HUMAN	mesothelin-like	661					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGATGCAAGTCCCCCAGTGCA	0.632													8	41					0	0	0	0	T	819554	C	T	819554	2	4	364	1	0	0	0	0	0	0	0	1	9952	842	30	2		2	MSLNL	16	819554	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	422583	819554	89535199	1575	70504											
MSLNL	401827	broad.mit.edu	37	chr16	830222	830222	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccggggcatccgggtccCagggtggacctgtgaccccc	4	5	17	15	2	0	1	0	1	0	0	2	2	2	2	6	6	0	1	6	6	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:830222C>T	ENST00000293892.3	-	3	778	c.779G>A	c.(778-780)tGg>tAg	p.W260*	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	505					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ATCCGGGTCCCAGGGTGGACC	0.672													7	11					0	0	0	0	T	830222	C	T	830222	4	4	364	1	0	0	0	0	0	1	0	0	9952	595	21	4	2438	4	MSLNL	16	830222	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	10668	830222	89524531	1576	70505											
PRR25	388199	broad.mit.edu	37	chr16	863384	863384	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaccgacacggcctccccatCcctgggtccaccccgactcc	6	5	8	22	3	0	0	0	0	0	0	4	3	4	0	9	2	0	0	9	2	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:863384C>T	ENST00000301698.1	+	3	732	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	244										large_intestine(1)|lung(1)|skin(1)	3						GCCTCCCCATCCCTGGGTCCA	0.697													3	6					0	0	0	0	T	863384	C	T	863384	2	4	364	1	0	0	0	0	0	0	0	1	12676	845	30	2		2	PRR25	16	863384	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	33162	863384	89491369	1577	70506											
ZNF598	90850	broad.mit.edu	37	chr16	2049627	2049627	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgggggcactccgagcaggGgccgggccctccatgtgtcc	4	7	16	14	2	0	0	0	0	0	0	3	1	3	0	5	5	1	2	5	5	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2049627G>A	ENST00000563630.1	-	9	2000	c.1758C>T	c.(1756-1758)gcC>gcT	p.A586A	ZNF598_ENST00000431526.1_Silent_p.A641A|ZNF598_ENST00000562103.1_Silent_p.A586A			Q86UK7	ZN598_HUMAN	zinc finger protein 598	641						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TCCGAGCAGGGGCCGGGCCCT	0.711													6	27					0	0	0	0	A	2049627	G	A	2049627	2	1	364	1	0	0	0	0	0	0	0	1	18123	1219	43	4		4	ZNF598	16	2049627	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1186243	2049627	88305126	1578	70507											
PKD1	5310	broad.mit.edu	37	chr16	2158531	2158531	+	Missense_Mutation	SNP	G	G	A																															cggcagcaccagccgaggccGgctcacgtccacgccgggca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2158531G>A	ENST00000262304.4	-	15	6845	c.6637C>T	c.(6637-6639)Cgg>Tgg	p.R2213W	PKD1_ENST00000423118.1_Missense_Mutation_p.R2213W	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2213	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCCGAGGCCGGCTCACGTCC	0.682													11	23					0	0	0	0	A	2158531	G	A	2158531	3	1	364	1	0	0	0	0	1	0	0	0	12035	1115	39	1	6402	1	PKD1	16	2158531	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	108904	2158531	88196222	1579	70508	943	2									
PKD1	5310	broad.mit.edu	37	chr16	2158532	2158532	+	Silent	SNP	G	G	A																															ggcagcaccagccgaggccgGctcacgtccacgccgggcag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2158532G>A	ENST00000262304.4	-	15	6844	c.6636C>T	c.(6634-6636)agC>agT	p.S2212S	PKD1_ENST00000423118.1_Silent_p.S2212S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2212	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCGAGGCCGGCTCACGTCCA	0.682													11	23					0	0	0	0	A	2158532	G	A	2158532	2	1	364	1	0	0	0	0	0	0	0	1	12035	1194	42	4		4	PKD1	16	2158532	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	2158532	88196221	1580	70509	943	2									
PKD1	5310	broad.mit.edu	37	chr16	2158553	2158553	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcacgtccacgccgggcagGgccacacgcgctgggcgccc	5	3	14	19	6	1	0	1	0	0	0	2	0	2	0	4	3	0	2	4	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2158553G>A	ENST00000262304.4	-	15	6823	c.6615C>T	c.(6613-6615)gcC>gcT	p.A2205A	PKD1_ENST00000423118.1_Silent_p.A2205A	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2205	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGCCGGGCAGGGCCACACGCG	0.687													5	21					0	0	0	0	A	2158553	G	A	2158553	2	1	364	1	0	0	0	0	0	0	0	1	12035	1219	43	4		4	PKD1	16	2158553	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	21	2158553	88196200	1581	70510											
TBC1D24	57465	broad.mit.edu	37	chr16	2546623	2546623	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcgagaaggcctgccgcatCctggcctgcaatgaccccgg	7	7	12	15	3	0	2	0	1	0	1	2	3	1	2	6	3	2	2	6	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2546623C>T	ENST00000567020.1	+	2	614	c.474C>T	c.(472-474)atC>atT	p.I158I	TBC1D24_ENST00000434757.2_Silent_p.I158I|RP11-20I23.1_ENST00000564543.1_Silent_p.I158I|TBC1D24_ENST00000293970.5_Silent_p.I158I	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	158	Rab-GAP TBC.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCTGCCGCATCCTGGCCTGCA	0.642													10	26					0	0	0	0	T	2546623	C	T	2546623	2	4	364	1	0	0	0	0	0	0	0	1	15705	845	30	2		2	TBC1D24	16	2546623	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	388070	2546623	87808130	1582	70511											
PDPK1	5170	broad.mit.edu	37	chr16	2607890	2607890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctgcagcatgcccagcctCcgccgcagcctcggaagaag	8	4	11	18	3	0	1	0	0	0	1	2	2	1	2	6	1	5	3	6	1	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2607890C>T	ENST00000342085.4	+	2	360	c.211C>T	c.(211-213)Ccg>Tcg	p.P71S	PDPK1_ENST00000268673.7_Missense_Mutation_p.P71S|PDPK1_ENST00000441549.3_Missense_Mutation_p.P71S|PDPK1_ENST00000389224.3_Missense_Mutation_p.P44S|PDPK1_ENST00000354836.5_Missense_Mutation_p.P71S	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	71					actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TGCCCAGCCTCCGCCGCAGCC	0.657													4	53					0	0	0	0	T	2607890	C	T	2607890	3	4	364	1	0	0	0	0	1	0	0	0	11758	855	30	2	217	2	PDPK1	16	2607890	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	61267	2607890	87746863	1583	70512											
SRRM2	23524	broad.mit.edu	37	chr16	2813122	2813122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggccaatgagcaatctGtaacgccacagagacggagc	13	4	11	13	2	1	2	0	1	1	1	1	4	1	3	3	2	3	2	3	2	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2813122G>T	ENST00000301740.8	+	11	3142	c.2593G>T	c.(2593-2595)Gta>Tta	p.V865L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	865	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGAGCAATCTGTAACGCCACA	0.493													51	92					3.10996e-30	3.24419e-30	1	0	T	2813122	G	T	2813122	3	4	364	1	0	0	0	0	1	0	0	0	15259	1377	48	4	2631	4	SRRM2	16	2813122	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	205232	2813122	87541631	1584	70513											
FLYWCH2	114984	broad.mit.edu	37	chr16	2946651	2946651	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgtgcactgtgtcatgtcCctgggggtgcccggccccgc	2	9	16	14	2	1	0	1	0	0	0	2	0	2	0	4	4	2	1	4	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2946651C>T	ENST00000396958.3	+	3	581	c.201C>T	c.(199-201)tcC>tcT	p.S67S	FLYWCH2_ENST00000572006.1_Silent_p.S67S|FLYWCH2_ENST00000293981.6_Silent_p.S67S	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	67										central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						GTGTCATGTCCCTGGGGGTGC	0.667													33	52					0	0	0	0	T	2946651	C	T	2946651	2	4	364	1	0	0	0	0	0	0	0	1	5993	610	22	4		4	FLYWCH2	16	2946651	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	133529	2946651	87408102	1585	70514											
CCDC64B	146439	broad.mit.edu	37	chr16	3079404	3079404	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctgggggctggacgcCtttcgggtctttggggaccg	4	9	19	9	3	1	0	0	0	1	0	2	3	1	2	2	7	0	2	2	7	1	2	rs113579453		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3079404C>T	ENST00000573514.1	-	5	2553	c.363G>A	c.(361-363)aaG>aaA	p.K121K	CCDC64B_ENST00000389347.4_Silent_p.K328K|CCDC64B_ENST00000572449.1_Silent_p.K328K			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	328										breast(1)|endometrium(2)|large_intestine(1)	4						GGCTGGACGCCTTTCGGGTCT	0.592													6	24					0	0	0	0	T	3079404	C	T	3079404	2	4	364	1	0	0	0	0	0	0	0	1	2863	680	24	4		4	CCDC64B	16	3079404	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	132753	3079404	87275349	1586	70515											
ZNF174	7727	broad.mit.edu	37	chr16	3458635	3458635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagcaaccgtttgcaacatCttggtcaccagcccacccgc	9	8	8	16	2	2	1	1	1	1	0	2	1	2	1	4	1	5	3	4	1	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3458635C>T	ENST00000268655.4	+	3	1525	c.940C>T	c.(940-942)Ctt>Ttt	p.L314F	ZNF174_ENST00000571936.1_Missense_Mutation_p.L314F|LA16c-306E5.2_ENST00000575785.1_RNA	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	314					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TTTGCAACATCTTGGTCACCA	0.493													17	68					0	0	0	0	T	3458635	C	T	3458635	3	4	364	1	0	0	0	0	1	0	0	0	17839	913	32	2	1034	2	ZNF174	16	3458635	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	379231	3458635	86896118	1587	70516											
NLRC3	197358	broad.mit.edu	37	chr16	3613075	3613075	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgccctggctgaggctcagGgacaggttggcctcctgggc	5	7	16	13	1	1	1	1	1	0	0	2	2	2	2	3	6	0	3	3	6	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3613075G>A	ENST00000301749.7	-	0	2268				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGAGGCTCAGGGACAGGTTGG	0.706													3	6					0	0	0	0	A	3613075	G	A	3613075	1	1	364	0	1	0	0	0	0	0	0	0	10538	1219	43	4		4	NLRC3	16	3613075	RNA	SNP	G	TCGA-D6-6516-01A-11D-1870-08	154440	3613075	86741678	1588	70517											
NLRC3	197358	broad.mit.edu	37	chr16	3614430	3614430	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggcagcaccagcgagaagtCcttgccgacctgcccatggg	9	5	13	14	2	0	1	0	0	0	1	1	3	1	1	5	2	4	2	5	2	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3614430C>T	ENST00000301749.7	-	0	913				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCGAGAAGTCCTTGCCGACC	0.657													4	50					0	0	0	0	T	3614430	C	T	3614430	1	4	364	0	1	0	0	0	0	0	0	0	10538	855	30	2		2	NLRC3	16	3614430	RNA	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1355	3614430	86740323	1589	70518											
GLIS2	84662	broad.mit.edu	37	chr16	4385175	4385175	+	Missense_Mutation	SNP	G	G	A																															gggagggctgcgcccgccatGgccgaggtttcaacgccagg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:4385175G>A	ENST00000262366.3	+	6	1458	c.637G>A	c.(637-639)Ggc>Agc	p.G213S	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.G213S			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	213					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CGCCCGCCATGGCCGAGGTTT	0.652													23	49					0	0	0	0	A	4385175	G	A	4385175	3	1	364	1	0	0	0	0	1	0	0	0	6497	1348	47	4	651	4	GLIS2	16	4385175	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	770745	4385175	85969578	1590	70519	944	2									
GLIS2	84662	broad.mit.edu	37	chr16	4385176	4385176	+	Missense_Mutation	SNP	G	G	T																															ggagggctgcgcccgccatgGccgaggtttcaacgccaggt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:4385176G>T	ENST00000262366.3	+	6	1459	c.638G>T	c.(637-639)gGc>gTc	p.G213V	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.G213V			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	213					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCCCGCCATGGCCGAGGTTTC	0.657													22	50					5.43694e-19	5.64332e-19	1	0	T	4385176	G	T	4385176	3	4	364	1	0	0	0	0	1	0	0	0	6497	1203	42	4	652	4	GLIS2	16	4385176	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	4385176	85969577	1591	70520	944	2									
SEC14L5	9717	broad.mit.edu	37	chr16	5055947	5055947	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcaatgagaacaccaggcgGaagttcctcatctacagtgg	13	8	10	10	1	3	1	2	1	1	1	4	3	4	2	2	3	2	1	2	3	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:5055947G>A	ENST00000251170.7	+	12	1515	c.1335G>A	c.(1333-1335)cgG>cgA	p.R445R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	445	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACACCAGGCGGAAGTTCCTCA	0.483													7	14					0	0	0	0	A	5055947	G	A	5055947	2	1	364	1	0	0	0	0	0	0	0	1	14072	1161	41	2		2	SEC14L5	16	5055947	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	670771	5055947	85298806	1592	70521											
SEC14L5	9717	broad.mit.edu	37	chr16	5058637	5058637	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccttgtctgccgggagggGgagagcatccaggtttgcat	6	9	15	11	1	1	1	0	0	1	1	2	3	2	2	4	4	3	3	4	4	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:5058637G>A	ENST00000251170.7	+	14	1968	c.1788G>A	c.(1786-1788)ggG>ggA	p.G596G		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	596	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCCGGGAGGGGGAGAGCATCC	0.627													36	64					0	0	0	0	A	5058637	G	A	5058637	2	1	364	1	0	0	0	0	0	0	0	1	14072	1219	43	4		4	SEC14L5	16	5058637	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2690	5058637	85296116	1593	70522											
ABAT	18	broad.mit.edu	37	chr16	8862733	8862733	+	Missense_Mutation	SNP	C	C	T																															tcacaagatcgacatcccttCctttgactggcccatcgcac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:8862733C>T	ENST00000396600.2	+	11	1657	c.719C>T	c.(718-720)tCc>tTc	p.S240F	ABAT_ENST00000425191.2_Missense_Mutation_p.S240F|ABAT_ENST00000569156.1_Missense_Mutation_p.S240F|ABAT_ENST00000567812.1_Missense_Mutation_p.S255F|ABAT_ENST00000268251.8_Missense_Mutation_p.S240F	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	240					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	p.S240F(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GACATCCCTTCCTTTGACTGG	0.532													117	221					0	0	0	0	T	8862733	C	T	8862733	3	4	364	1	0	0	0	0	1	0	0	0	27	855	30	2	757	2	ABAT	16	8862733	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3804096	8862733	81492020	1594	70523	945	2									
ABAT	18	broad.mit.edu	37	chr16	8862734	8862734	+	Silent	SNP	C	C	T																															cacaagatcgacatcccttcCtttgactggcccatcgcacc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:8862734C>T	ENST00000396600.2	+	11	1658	c.720C>T	c.(718-720)tcC>tcT	p.S240S	ABAT_ENST00000425191.2_Silent_p.S240S|ABAT_ENST00000569156.1_Silent_p.S240S|ABAT_ENST00000567812.1_Silent_p.S255S|ABAT_ENST00000268251.8_Silent_p.S240S	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	240					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ACATCCCTTCCTTTGACTGGC	0.527													117	220					0	0	0	0	T	8862734	C	T	8862734	2	4	364	1	0	0	0	0	0	0	0	1	27	668	24	4		4	ABAT	16	8862734	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	8862734	81492019	1595	70524	945	2									
GRIN2A	2903	broad.mit.edu	37	chr16	9892181	9892181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgatctgcctcttccaaGgagagcctttctgaagggca	8	10	12	11	1	3	2	0	1	3	1	5	4	4	2	3	3	2	1	3	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:9892181G>A	ENST00000396573.2	-	12	2618	c.2309C>T	c.(2308-2310)cCt>cTt	p.P770L	GRIN2A_ENST00000330684.3_Missense_Mutation_p.P770L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P770L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P770L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P613L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P770L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	770					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTCTTCCAAGGAGAGCCTTT	0.557													18	40					0	0	0	0	A	9892181	G	A	9892181	3	1	364	1	0	0	0	0	1	0	0	0	6829	1000	35	4	2097	4	GRIN2A	16	9892181	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1029447	9892181	80462572	1596	70525											
NUBP1	4682	broad.mit.edu	37	chr16	10851749	10851749	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcatgatcaagcagttcctCcgagatgtggactggggaga	10	8	15	8	1	1	3	1	1	0	2	3	6	3	4	2	4	1	3	2	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:10851749C>T	ENST00000283027.5	+	7	490	c.471C>T	c.(469-471)ctC>ctT	p.L157L	NUBP1_ENST00000433392.2_Silent_p.L146L|NUBP1_ENST00000571790.1_3'UTR	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1	157					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						AGCAGTTCCTCCGAGATGTGG	0.502													9	128					0	0	0	0	T	10851749	C	T	10851749	2	4	364	1	0	0	0	0	0	0	0	1	10786	842	30	2		2	NUBP1	16	10851749	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	959568	10851749	79503004	1597	70526											
CIITA	4261	broad.mit.edu	37	chr16	10989224	10989224	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcgatgctgaccccctgtgCctctaccacttctatgacca	8	10	7	16	1	2	2	0	2	2	0	2	3	2	2	5	0	4	1	5	0	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:10989224C>T	ENST00000324288.8	+	2	271	c.138C>T	c.(136-138)tgC>tgT	p.C46C	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Silent_p.C46C	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	46					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACCCCCTGTGCCTCTACCACT	0.582			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								7	26					0	0	0	0	T	10989224	C	T	10989224	2	4	364	1	0	0	0	0	0	0	0	1	3457	747	26	4		4	CIITA	16	10989224	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	137475	10989224	79365529	1598	70527											
CIITA	4261	broad.mit.edu	37	chr16	11001414	11001414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgcagacgtgaggacctggGcgatggccaaaggcttagtc	9	6	15	11	3	0	2	0	1	0	1	1	4	0	3	3	4	0	2	3	4	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:11001414G>A	ENST00000324288.8	+	11	2198	c.2065G>A	c.(2065-2067)Gcg>Acg	p.A689T	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	689	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GAGGACCTGGGCGATGGCCAA	0.657			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								14	73					0	0	0	0	A	11001414	G	A	11001414	3	1	364	1	0	0	0	0	1	0	0	0	3457	1203	42	4	2107	4	CIITA	16	11001414	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	12190	11001414	79353339	1599	70528											
RSL1D1	26156	broad.mit.edu	37	chr16	11940618	11940618	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctaattctggcatcagtaAggaagaaatcaaaactgctc	15	9	8	9	0	3	1	2	0	1	1	4	2	3	2	1	2	2	3	1	2	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:11940618A>G	ENST00000571133.1	-	4	539	c.467T>C	c.(466-468)cTt>cCt	p.L156P	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	156					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GGCATCAGTAAGGAAGAAATC	0.403													111	214					0	0	0	0	G	11940618	A	G	11940618	3	3	364	1	0	0	0	0	1	0	0	0	13785	72	3	5	1029	5	RSL1D1	16	11940618	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	939204	11940618	78414135	1600	70529											
SNX29	92017	broad.mit.edu	37	chr16	12136911	12136911	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagcgctacctgcacatgctCctggccgaccgctgcaggct	6	7	12	16	3	0	0	0	0	0	0	1	2	1	0	4	2	5	6	4	2	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:12136911C>T	ENST00000566228.1	+	5	474	c.405C>T	c.(403-405)ctC>ctT	p.L135L	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGCACATGCTCCTGGCCGACC	0.642													5	21					0	0	0	0	T	12136911	C	T	12136911	2	4	364	1	0	0	0	0	0	0	0	1	14986	842	30	2		2	SNX29	16	12136911	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	196293	12136911	78217842	1601	70530											
KIAA0430	9665	broad.mit.edu	37	chr16	15705498	15705498	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgacctgtttgctggcctGggatttgagaagttttagta	9	15	12	5	0	0	2	0	2	0	1	0	4	0	3	2	2	1	4	2	2	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:15705498G>A	ENST00000396368.3	-	18	3774	c.3568C>T	c.(3568-3570)Cag>Tag	p.Q1190*	KIAA0430_ENST00000344181.3_Nonsense_Mutation_p.Q792*|KIAA0430_ENST00000540441.2_Nonsense_Mutation_p.Q1025*|KIAA0430_ENST00000602337.1_Nonsense_Mutation_p.Q1187*|KIAA0430_ENST00000551742.1_Nonsense_Mutation_p.Q1190*|KIAA0430_ENST00000548025.1_Nonsense_Mutation_p.Q1187*	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1189						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTGCTGGCCTGGGATTTGAGA	0.423													14	59					0	0	0	0	A	15705498	G	A	15705498	4	1	364	1	0	0	0	0	0	1	0	0	8228	1357	47	4	1700	4	KIAA0430	16	15705498	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3568587	15705498	74649255	1602	70531											
XYLT1	64131	broad.mit.edu	37	chr16	17353019	17353019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggtcatacttggtctcggGggagctgcccccagttttcc	4	12	12	13	1	2	0	1	0	1	0	4	1	3	1	3	4	3	2	3	4	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:17353019G>A	ENST00000261381.6	-	3	823	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	247					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGGTCTCGGGGGAGCTGCCC	0.632													57	102					0	0	0	0	A	17353019	G	A	17353019	3	1	364	1	0	0	0	0	1	0	0	0	17559	1232	43	4	2180	4	XYLT1	16	17353019	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1647521	17353019	73001734	1603	70532											
SMG1	23049	broad.mit.edu	37	chr16	18823385	18823385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagcaagatttttttggatCagctttctagcattctgtga	9	17	9	6	0	3	2	1	1	2	1	3	3	3	3	0	1	3	4	0	1	3	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:18823385C>T	ENST00000446231.2	-	61	11098	c.10686G>A	c.(10684-10686)ctG>ctA	p.L3562L	SMG1_ENST00000389467.3_Silent_p.L3563L|RP11-1035H13.2_ENST00000569096.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3562					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTTTTGGATCAGCTTTCTAG	0.463													16	63					0	0	0	0	T	18823385	C	T	18823385	2	4	364	1	0	0	0	0	0	0	0	1	14883	813	29	2		2	SMG1	16	18823385	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1470366	18823385	71531368	1604	70533											
COQ7	10229	broad.mit.edu	37	chr16	19083337	19083337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgtggatcgaataatccGggtggatcatgcaggcgaat	11	9	14	7	3	1	0	1	0	0	0	3	4	2	2	1	4	2	2	1	4	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:19083337G>T	ENST00000321998.5	+	2	227	c.161G>T	c.(160-162)cGg>cTg	p.R54L	COQ7_ENST00000544894.2_Missense_Mutation_p.R16L|COQ7_ENST00000569127.1_Missense_Mutation_p.R31L|COQ7_ENST00000568985.1_Missense_Mutation_p.R54L	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	54	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						CGAATAATCCGGGTGGATCAT	0.522											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	131					0.150653	0.151212	1	0	T	19083337	G	T	19083337	3	4	364	1	0	0	0	0	1	0	0	0	3780	1116	39	3	167	3	COQ7	16	19083337	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	259952	19083337	71271416	1605	70534											
SYT17	51760	broad.mit.edu	37	chr16	19236021	19236021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagacccctttgtgaaaatCcagctggtgcatggactcaa	11	10	9	11	0	2	2	2	1	0	1	3	3	3	3	3	2	2	2	3	2	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:19236021C>T	ENST00000562034.1	+	5	4704	c.906C>T	c.(904-906)atC>atT	p.I302I	SYT17_ENST00000562711.2_Silent_p.I359I|SYT17_ENST00000568433.1_Silent_p.I57I|SYT17_ENST00000355377.2_Silent_p.I363I|SYT17_ENST00000568115.1_Silent_p.I302I			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	363						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TTGTGAAAATCCAGCTGGTGC	0.428													26	58					0	0	0	0	T	19236021	C	T	19236021	2	4	364	1	0	0	0	0	0	0	0	1	15564	845	30	2		2	SYT17	16	19236021	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	152684	19236021	71118732	1606	70535											
ACSM2A	123876	broad.mit.edu	37	chr16	20476956	20476956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcagccaacgtcctctcgGgagcctgtggcctgcagcgt	6	7	14	14	3	1	0	0	0	1	0	3	1	2	1	4	3	5	2	4	3	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:20476956G>A	ENST00000573854.1	+	3	409	c.295G>A	c.(295-297)Gga>Aga	p.G99R	ACSM2A_ENST00000575690.1_Missense_Mutation_p.G99R|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G99R|ACSM2A_ENST00000417235.2_Missense_Mutation_p.G20R|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.G99R|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G99R	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	99					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CGTCCTCTCGGGAGCCTGTGG	0.592													16	51					0	0	0	0	A	20476956	G	A	20476956	3	1	364	1	0	0	0	0	1	0	0	0	183	1233	43	4	301	4	ACSM2A	16	20476956	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1240935	20476956	69877797	1607	70536											
ACSM2A	123876	broad.mit.edu	37	chr16	20487017	20487017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcgtcactgtaggggagtcCcttcttccagaaactctgga	8	11	11	11	1	3	1	1	0	2	1	5	3	5	3	2	3	2	1	2	3	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:20487017C>T	ENST00000573854.1	+	8	1134	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	ACSM2A_ENST00000575690.1_Silent_p.S340S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Silent_p.S340S|ACSM2A_ENST00000417235.2_Silent_p.S261S|ACSM2A_ENST00000536134.1_Silent_p.S112S|ACSM2A_ENST00000219054.6_Silent_p.S340S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	340					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TAGGGGAGTCCCTTCTTCCAG	0.522													36	199					0	0	0	0	T	20487017	C	T	20487017	2	4	364	1	0	0	0	0	0	0	0	1	183	610	22	4		4	ACSM2A	16	20487017	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	10061	20487017	69867736	1608	70537											
ZP2	7783	broad.mit.edu	37	chr16	21208925	21208925	+	Missense_Mutation	SNP	C	C	T																															catctccagcagtcttgtgcCctttggtgtccatagcacct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:21208925C>T	ENST00000574002.1	-	20	2596	c.2114G>A	c.(2113-2115)gGg>gAg	p.G705E	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.G696E|ZP2_ENST00000219593.4_Missense_Mutation_p.G705E			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	705					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGTCTTGTGCCCTTTGGTGTC	0.478													10	72					0	0	0	0	T	21208925	C	T	21208925	3	4	364	1	0	0	0	0	1	0	0	0	18309	623	22	4	127	4	ZP2	16	21208925	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	721908	21208925	69145828	1609	70538	946	2									
ZP2	7783	broad.mit.edu	37	chr16	21208926	21208926	+	Missense_Mutation	SNP	C	C	T																															atctccagcagtcttgtgccCtttggtgtccatagcaccta																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:21208926C>T	ENST00000574002.1	-	20	2595	c.2113G>A	c.(2113-2115)Ggg>Agg	p.G705R	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.G696R|ZP2_ENST00000219593.4_Missense_Mutation_p.G705R			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	705					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCTTGTGCCCTTTGGTGTCC	0.478													10	73					0	0	0	0	T	21208926	C	T	21208926	3	4	364	1	0	0	0	0	1	0	0	0	18309	681	24	4	128	4	ZP2	16	21208926	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	21208926	69145827	1610	70539	946	2									
ZP2	7783	broad.mit.edu	37	chr16	21213521	21213521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcaggatgagtttcccacCctcagagtacccaggtcaag	10	8	11	12	0	2	2	2	1	0	1	3	3	3	3	3	3	1	3	3	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:21213521C>T	ENST00000574002.1	-	12	1673	c.1191G>A	c.(1189-1191)agG>agA	p.R397R	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Silent_p.R397R|ZP2_ENST00000219593.4_Silent_p.R397R			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	397	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGTTTCCCACCCTCAGAGTAC	0.532													14	29					0	0	0	0	T	21213521	C	T	21213521	2	4	364	1	0	0	0	0	0	0	0	1	18309	622	22	4		4	ZP2	16	21213521	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4595	21213521	69141232	1611	70540											
GGA2	23062	broad.mit.edu	37	chr16	23499976	23499976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagctcttgggccagggaGatggtgggggtaagatttta	8	11	18	4	0	1	2	0	0	1	2	1	4	1	3	1	6	1	2	1	6	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:23499976G>A	ENST00000309859.4	-	6	612	c.530C>T	c.(529-531)tCt>tTt	p.S177F	GGA2_ENST00000567468.1_Missense_Mutation_p.S177F	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	177					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GGGCCAGGGAGATGGTGGGGG	0.418													54	109					0	0	0	0	A	23499976	G	A	23499976	3	1	364	1	0	0	0	0	1	0	0	0	6404	942	33	2	1359	2	GGA2	16	23499976	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2286455	23499976	66854777	1612	70541											
UBFD1	56061	broad.mit.edu	37	chr16	23569515	23569515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctggtggacttgaagatCatctggaataagaccaagca	14	8	12	7	0	2	3	1	1	1	2	2	6	2	5	1	3	2	2	1	3	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:23569515C>T	ENST00000395878.3	+	2	651	c.270C>T	c.(268-270)atC>atT	p.I90I	UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000219638.4_Silent_p.I314I|UBFD1_ENST00000567264.1_Silent_p.I90I|UBFD1_ENST00000567212.1_Silent_p.I81I	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	90	Ubiquitin-like.									endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		ACTTGAAGATCATCTGGAATA	0.637													18	39					0	0	0	0	T	23569515	C	T	23569515	2	4	364	1	0	0	0	0	0	0	0	1	16980	816	29	2		2	UBFD1	16	23569515	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	69539	23569515	66785238	1613	70542											
ERN2	10595	broad.mit.edu	37	chr16	23713533	23713533	+	Silent	SNP	C	C	T																															cttgtctctgcagttccactCcccagggtgggatggaccct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:23713533C>T	ENST00000256797.4	-	11	1455	c.1287G>A	c.(1285-1287)ggG>ggA	p.G429G	ERN2_ENST00000457008.2_Silent_p.G381G	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	381					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CAGTTCCACTCCCCAGGGTGG	0.622													60	111					0	0	0	0	T	23713533	C	T	23713533	2	4	364	1	0	0	0	0	0	0	0	1	5276	842	30	2		2	ERN2	16	23713533	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	144018	23713533	66641220	1614	70543	947	2									
ERN2	10595	broad.mit.edu	37	chr16	23713534	23713534	+	Missense_Mutation	SNP	C	C	T																															ttgtctctgcagttccactcCccagggtgggatggaccctc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:23713534C>T	ENST00000256797.4	-	11	1454	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E	ERN2_ENST00000457008.2_Missense_Mutation_p.G381E	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	381					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGTTCCACTCCCCAGGGTGGG	0.617													60	111					0	0	0	0	T	23713534	C	T	23713534	3	4	364	1	0	0	0	0	1	0	0	0	5276	623	22	4	1686	4	ERN2	16	23713534	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	23713534	66641219	1615	70544	947	2									
SLC5A11	115584	broad.mit.edu	37	chr16	24922733	24922733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggcaaggaagagctccCggccagagcagaagccatca	14	2	14	11	1	1	3	1	0	0	3	2	5	2	4	3	3	3	3	3	3	4	0	rs145800390	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:24922733C>T	ENST00000347898.3	+	16	2529	c.1907C>T	c.(1906-1908)cCg>cTg	p.P636L	SLC5A11_ENST00000568579.1_Missense_Mutation_p.P566L|SLC5A11_ENST00000567758.1_Missense_Mutation_p.P601L|SLC5A11_ENST00000569071.1_Missense_Mutation_p.P480L|SLC5A11_ENST00000539472.1_Missense_Mutation_p.P572L|SLC5A11_ENST00000545376.1_Missense_Mutation_p.P566L|SLC5A11_ENST00000424767.2_Missense_Mutation_p.P601L|SLC5A11_ENST00000565769.1_Missense_Mutation_p.P572L|SLC5A11_ENST00000449109.2_Missense_Mutation_p.P480L	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	636					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GAAGAGCTCCCGGCCAGAGCA	0.537													87	156					0	0	0	0	T	24922733	C	T	24922733	3	4	364	1	0	0	0	0	1	0	0	0	14751	652	23	1	1965	1	SLC5A11	16	24922733	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1209199	24922733	65432020	1616	70545											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25264338	25264338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccattcatcagcaagggcagGaacccagggagaaggccgag	13	3	14	11	1	2	1	2	0	0	1	2	4	2	2	3	4	2	2	3	4	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:25264338G>A	ENST00000328086.7	-	3	1410	c.607C>T	c.(607-609)Cct>Tct	p.P203S		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	203					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GCAAGGGCAGGAACCCAGGGA	0.438													28	158					0	0	0	0	A	25264338	G	A	25264338	3	1	364	1	0	0	0	0	1	0	0	0	17782	1174	41	2	2316	2	ZKSCAN2	16	25264338	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	341605	25264338	65090415	1617	70546											
SULT1A1	6817	broad.mit.edu	37	chr16	28617420	28617420	+	Silent	SNP	G	G	A																															ctgtggtccatgaactcctgGgggacggtggtgtagttggt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:28617420G>A	ENST00000395609.1	-	9	1490	c.732C>T	c.(730-732)ccC>ccT	p.P244P	SULT1A1_ENST00000569554.1_Silent_p.P244P|SULT1A1_ENST00000395607.1_Silent_p.P244P|SULT1A1_ENST00000314752.7_Silent_p.P244P|SULT1A1_ENST00000350842.4_Silent_p.P166P			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	244					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						TGAACTCCTGGGGGACGGTGG	0.617													27	425					0	0	0	0	A	28617420	G	A	28617420	2	1	364	1	0	0	0	0	0	0	0	1	15462	1219	43	4		4	SULT1A1	16	28617420	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3353082	28617420	61737333	1618	70547	948	2									
SULT1A1	6817	broad.mit.edu	37	chr16	28617426	28617426	+	Silent	SNP	G	G	A																															tccatgaactcctgggggacGgtggtgtagttggtcatagg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:28617426G>A	ENST00000395609.1	-	9	1484	c.726C>T	c.(724-726)acC>acT	p.T242T	SULT1A1_ENST00000569554.1_Silent_p.T242T|SULT1A1_ENST00000395607.1_Silent_p.T242T|SULT1A1_ENST00000314752.7_Silent_p.T242T|SULT1A1_ENST00000350842.4_Silent_p.T164T			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	242					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CCTGGGGGACGGTGGTGTAGT	0.602													27	401					0	0	0	0	A	28617426	G	A	28617426	2	1	364	1	0	0	0	0	0	0	0	1	15462	1103	39	1		1	SULT1A1	16	28617426	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6	28617426	61737327	1619	70548	948	2									
ATXN2L	11273	broad.mit.edu	37	chr16	28847705	28847705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcttgctcctggctctgtCctttgcttccctccgtcctc	0	15	9	17	1	1	0	0	0	1	0	7	0	6	0	5	2	2	4	5	2	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:28847705C>T	ENST00000395547.2	+	23	3365	c.3198C>T	c.(3196-3198)gtC>gtT	p.V1066V	ATXN2L_ENST00000336783.4_3'UTR|ATXN2L_ENST00000325215.6_Intron|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Intron|ATXN2L_ENST00000570200.1_Intron|ATXN2L_ENST00000340394.8_Intron|ATXN2L_ENST00000564304.1_Intron	NM_148414.2	NP_680780.1	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	0						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTGGCTCTGTCCTTTGCTTCC	0.652													9	58					0	0	0	0	T	28847705	C	T	28847705	2	4	364	1	0	0	0	0	0	0	0	1	1216	842	30	2		2	ATXN2L	16	28847705	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	230279	28847705	61507048	1620	70549											
SPN	6693	broad.mit.edu	37	chr16	29675976	29675976	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggctgggccagcccaggtCcctgaggagggggccgtgac	5	5	19	12	1	0	2	0	2	0	0	1	3	1	3	4	6	1	1	4	6	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:29675976C>T	ENST00000360121.3	+	2	1019	c.927C>T	c.(925-927)gtC>gtT	p.V309V	AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Silent_p.V309V	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	309					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CAGCCCAGGTCCCTGAGGAGG	0.731													3	10					0	0	0	0	T	29675976	C	T	29675976	2	4	364	1	0	0	0	0	0	0	0	1	15163	842	30	2		2	SPN	16	29675976	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	828271	29675976	60678777	1621	70550											
TAOK2	9344	broad.mit.edu	37	chr16	29996845	29996845	+	Silent	SNP	C	C	T																															cagaagaaggagctggctgcCctgctggaggcacagaagcg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:29996845C>T	ENST00000308893.4	+	14	2777	c.1734C>T	c.(1732-1734)gcC>gcT	p.A578A	TAOK2_ENST00000416441.2_Silent_p.A405A|TAOK2_ENST00000543033.1_Silent_p.A578A|TAOK2_ENST00000279394.3_Silent_p.A578A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	578					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGCTGGCTGCCCTGCTGGAGG	0.637													6	33					0	0	0	0	T	29996845	C	T	29996845	2	4	364	1	0	0	0	0	0	0	0	1	15639	610	22	4		4	TAOK2	16	29996845	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	320869	29996845	60357908	1622	70551	949	2									
TAOK2	9344	broad.mit.edu	37	chr16	29996846	29996846	+	Silent	SNP	C	C	T																															agaagaaggagctggctgccCtgctggaggcacagaagcgg																								rs141623258		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:29996846C>T	ENST00000308893.4	+	14	2778	c.1735C>T	c.(1735-1737)Ctg>Ttg	p.L579L	TAOK2_ENST00000416441.2_Silent_p.L406L|TAOK2_ENST00000543033.1_Silent_p.L579L|TAOK2_ENST00000279394.3_Silent_p.L579L	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	579					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCTGGCTGCCCTGCTGGAGGC	0.637													6	34					0	0	0	0	T	29996846	C	T	29996846	2	4	364	1	0	0	0	0	0	0	0	1	15639	680	24	4		4	TAOK2	16	29996846	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	29996846	60357907	1623	70552	949	2									
FBXL19	54620	broad.mit.edu	37	chr16	30941539	30941539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcctcctcggactcagactCcgactccgactcttcgggca	6	10	8	17	4	2	1	1	0	1	1	8	4	6	2	4	2	0	1	4	2	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:30941539C>T	ENST00000338343.4	+	7	1322	c.935C>T	c.(934-936)tCc>tTc	p.S312F	FBXL19_ENST00000565690.1_Missense_Mutation_p.S196F|FBXL19_ENST00000380310.2_Missense_Mutation_p.S332F|FBXL19_ENST00000562319.1_Missense_Mutation_p.S312F|FBXL19_ENST00000471231.2_Missense_Mutation_p.S20F			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	332							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GACTCAGACTCCGACTCCGAC	0.667													14	57					0	0	0	0	T	30941539	C	T	30941539	3	4	364	1	0	0	0	0	1	0	0	0	5760	855	30	2	1021	2	FBXL19	16	30941539	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	944693	30941539	59413214	1624	70553											
HSD3B7	80270	broad.mit.edu	37	chr16	30998163	30998163	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acctgcctttgccaccaggtCcgtggggggctgcccctggt	3	9	14	15	1	0	0	0	0	0	0	1	0	1	0	7	5	3	1	7	5	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:30998163C>T	ENST00000297679.5	+	6	627	c.534C>T	c.(532-534)gtC>gtT	p.V178V	HSD3B7_ENST00000353250.5_Intron|HSD3B7_ENST00000262520.6_Intron	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	178					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCACCAGGTCCGTGGGGGGC	0.677													9	59					0	0	0	0	T	30998163	C	T	30998163	2	4	364	1	0	0	0	0	0	0	0	1	7442	842	30	2		2	HSD3B7	16	30998163	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	56624	30998163	59356590	1625	70554											
STX4	6810	broad.mit.edu	37	chr16	31046325	31046325	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggaagctgatgagaaCtataactccgtcaacacaag	17	6	10	8	1	1	2	1	2	0	1	2	5	2	4	1	2	4	1	1	2	7	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:31046325C>T	ENST00000394998.1	+	6	679	c.336C>T	c.(334-336)aaC>aaT	p.N112N	STX4_ENST00000313843.3_Silent_p.N114N|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	114					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CTGATGAGAACTATAACTCCG	0.408													21	129					0	0	0	0	T	31046325	C	T	31046325	2	4	364	1	0	0	0	0	0	0	0	1	15437	564	20	4		4	STX4	16	31046325	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	48162	31046325	59308428	1626	70555											
ITGAD	3681	broad.mit.edu	37	chr16	31414965	31414965	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacgggcatcctgacagtgGtgtaagcaaccccgacccca	10	5	10	16	2	0	1	0	1	0	0	1	2	1	1	6	2	2	3	6	2	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:31414965G>A	ENST00000389202.2	+	7	752	c.704_splice	c.e7+1	p.V235_splice	RP11-120K18.2_ENST00000567545.1_RNA	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	235	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCTGACAGTGGTGTAAGCAAC	0.627													20	48					0	0	0	0	A	31414965	G	A	31414965	5	1	364	1	0	0	0	0	0	0	1	0	7937	1275	44	4	729	4	ITGAD	16	31414965	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	368640	31414965	58939788	1627	70556											
ITGAD	3681	broad.mit.edu	37	chr16	31421727	31421727	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcctcccaggatggcctcttCctgggggctgtggggagctt	3	11	15	12	0	1	0	0	0	1	0	4	2	4	2	4	6	1	2	4	6	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:31421727C>T	ENST00000389202.2	+	11	1144	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	365					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGCCTCTTCCTGGGGGCTG	0.577													24	88					0	0	0	0	T	31421727	C	T	31421727	2	4	364	1	0	0	0	0	0	0	0	1	7937	854	30	2		2	ITGAD	16	31421727	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	6762	31421727	58933026	1628	70557											
ITFG1	81533	broad.mit.edu	37	chr16	47345268	47345268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgttcatccacaaatGgcacaaagccccagagtgtg	11	9	10	11	0	1	1	1	0	0	1	2	1	2	1	3	1	2	4	3	1	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:47345268G>A	ENST00000320640.6	-	10	1181	c.953C>T	c.(952-954)cCa>cTa	p.P318L	RP11-474B12.1_ENST00000564739.1_RNA|ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.P205L	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	318						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				ATCCACAAATGGCACAAAGCC	0.393													19	41					0	0	0	0	A	47345268	G	A	47345268	3	1	364	1	0	0	0	0	1	0	0	0	7922	1348	47	4	921	4	ITFG1	16	47345268	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	15923541	47345268	43009485	1629	70558											
ABCC11	85320	broad.mit.edu	37	chr16	48218385	48218385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgacagccatgactttaaagGagtagggggtggaggaaatg	13	8	16	4	0	0	2	0	2	0	0	0	5	0	5	1	5	1	1	1	5	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:48218385G>A	ENST00000394747.1	-	22	3573	c.3224C>T	c.(3223-3225)tCc>tTc	p.S1075F	ABCC11_ENST00000353782.5_Missense_Mutation_p.S1075F|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.S1075F|ABCC11_ENST00000394748.1_Missense_Mutation_p.S1075F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1075	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GACTTTAAAGGAGTAGGGGGT	0.557													14	60					0	0	0	0	A	48218385	G	A	48218385	3	1	364	1	0	0	0	0	1	0	0	0	51	1174	41	2	956	2	ABCC11	16	48218385	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	873117	48218385	42136368	1630	70559											
C16orf78	123970	broad.mit.edu	37	chr16	49430376	49430376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacccagagtccactcagcGgccaaacccattccgtcgac	10	5	8	18	4	1	1	1	0	0	1	4	3	3	1	5	1	2	0	5	1	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:49430376G>A	ENST00000299191.3	+	4	554	c.437G>A	c.(436-438)cGg>cAg	p.R146Q		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	146										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TCCACTCAGCGGCCAAACCCA	0.507													39	69					0	0	0	0	A	49430376	G	A	49430376	3	1	364	1	0	0	0	0	1	0	0	0	1848	1116	39	1	451	1	C16orf78	16	49430376	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1211991	49430376	40924377	1631	70560											
SALL1	6299	broad.mit.edu	37	chr16	51173737	51173737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggactcagagtagctgtcgGggactggggtgttggggatc	6	10	19	6	1	1	1	1	0	0	1	3	4	1	4	0	7	1	3	0	7	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:51173737G>A	ENST00000440970.1	-	2	2536	c.2105C>T	c.(2104-2106)cCc>cTc	p.P702L	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P799L|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	799					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTAGCTGTCGGGGACTGGGGT	0.502													58	113					0	0	0	0	A	51173737	G	A	51173737	3	1	364	1	0	0	0	0	1	0	0	0	13895	1232	43	4	1586	4	SALL1	16	51173737	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1743361	51173737	39181016	1632	70561											
IRX3	79191	broad.mit.edu	37	chr16	54319187	54319187	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcccataagcgtttccCtcctcgtcagtgcggctgcg	4	11	10	16	5	1	0	1	0	0	0	6	0	4	0	3	1	3	3	3	1	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:54319187C>T	ENST00000329734.3	-	2	1318	c.606G>A	c.(604-606)gaG>gaA	p.E202E		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	202	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						AAGCGTTTCCCTCCTCGTCAG	0.647													19	27					0	0	0	0	T	54319187	C	T	54319187	2	4	364	1	0	0	0	0	0	0	0	1	7898	680	24	4		4	IRX3	16	54319187	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3145450	54319187	36035566	1633	70562											
IRX6	79190	broad.mit.edu	37	chr16	55362877	55362877	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggatcggaagaagctgacttCctctcggcggagacaggcag	10	6	15	10	3	1	3	0	1	1	2	4	6	2	5	1	5	1	2	1	5	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:55362877C>T	ENST00000290552.7	+	5	2319	c.987C>T	c.(985-987)ttC>ttT	p.F329F	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	329						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AAGCTGACTTCCTCTCGGCGG	0.647													24	46					0	0	0	0	T	55362877	C	T	55362877	2	4	364	1	0	0	0	0	0	0	0	1	7901	854	30	2		2	IRX6	16	55362877	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1043690	55362877	34991876	1634	70563											
GNAO1	2775	broad.mit.edu	37	chr16	56377846	56377846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcgccaaaaacctgcgggGctgtggactctactgagccc	9	7	11	14	2	1	1	0	1	1	0	2	2	1	2	3	3	4	1	3	3	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:56377846G>A	ENST00000262494.7	+	8	1309	c.1049G>A	c.(1048-1050)gGc>gAc	p.G350D	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	350					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AACCTGCGGGGCTGTGGACTC	0.627													6	54					0	0	0	0	A	56377846	G	A	56377846	3	1	364	1	0	0	0	0	1	0	0	0	6559	1203	42	4	1079	4	GNAO1	16	56377846	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1014969	56377846	33976907	1635	70564											
NLRC5	84166	broad.mit.edu	37	chr16	57088699	57088699	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtccccgaaaagccccttCctgctggccaacaccttaag	9	8	7	17	1	0	0	0	0	0	0	2	1	2	0	7	1	3	1	7	1	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:57088699C>T	ENST00000436936.1	+	25	3768	c.3543C>T	c.(3541-3543)ttC>ttT	p.F1181F	NLRC5_ENST00000308149.7_Silent_p.F1181F|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000262510.6_Silent_p.F1181F|NLRC5_ENST00000539144.1_Silent_p.F1181F			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1181					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AAAGCCCCTTCCTGCTGGCCA	0.587													46	230					0	0	0	0	T	57088699	C	T	57088699	2	4	364	1	0	0	0	0	0	0	0	1	10540	854	30	2		2	NLRC5	16	57088699	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	710853	57088699	33266054	1636	70565											
CPNE2	221184	broad.mit.edu	37	chr16	57151428	57151428	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgcccaggagctgtcCgacaaccgcgtcatcacact	9	7	9	16	4	2	0	2	0	0	0	4	2	3	1	3	1	3	2	3	1	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:57151428C>T	ENST00000535318.2	+	6	817	c.456C>T	c.(454-456)tcC>tcT	p.S152S	CPNE2_ENST00000565874.1_Silent_p.S152S|CPNE2_ENST00000537605.1_Silent_p.S50S|CPNE2_ENST00000290776.8_Silent_p.S152S			Q96FN4	CPNE2_HUMAN	copine II	152	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				AGGAGCTGTCCGACAACCGCG	0.652													8	27					0	0	0	0	T	57151428	C	T	57151428	2	4	364	1	0	0	0	0	0	0	0	1	3842	639	23	1		1	CPNE2	16	57151428	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	62729	57151428	33203325	1637	70566											
CCDC113	29070	broad.mit.edu	37	chr16	58287927	58287927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggcaggcgtagatccaaatCccggacaggtatggaccgtg	11	6	14	10	3	0	1	0	0	0	1	2	3	2	3	3	5	0	3	3	5	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:58287927C>T	ENST00000219299.4	+	3	333	c.254C>T	c.(253-255)tCc>tTc	p.S85F	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	85						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGATCCAAATCCCGGACAGGT	0.493													9	74					0	0	0	0	T	58287927	C	T	58287927	3	4	364	1	0	0	0	0	1	0	0	0	2775	855	30	2	264	2	CCDC113	16	58287927	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1136499	58287927	32066826	1638	70567											
NDRG4	65009	broad.mit.edu	37	chr16	58537726	58537726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacatcgagacaccctacGgccttctgcatgtagtgatc	10	10	9	12	2	1	3	0	2	1	1	3	4	1	3	2	1	2	2	2	1	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:58537726G>A	ENST00000394282.4	+	4	609	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	NDRG4_ENST00000570248.1_Missense_Mutation_p.G16S|NDRG4_ENST00000394279.2_Missense_Mutation_p.G48S|NDRG4_ENST00000563799.1_Missense_Mutation_p.G16S|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000562999.1_Missense_Mutation_p.G16S|NDRG4_ENST00000568640.1_Missense_Mutation_p.G34S|NDRG4_ENST00000566192.1_Missense_Mutation_p.G16S|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000258187.5_Missense_Mutation_p.G48S|NDRG4_ENST00000356752.4_Missense_Mutation_p.G46S	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	16					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GACACCCTACGGCCTTCTGCA	0.622													8	51					0	0	0	0	A	58537726	G	A	58537726	3	1	364	1	0	0	0	0	1	0	0	0	10324	1116	39	1	216	1	NDRG4	16	58537726	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	249799	58537726	31817027	1639	70568											
CDH8	1006	broad.mit.edu	37	chr16	61859073	61859073	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatgttgggaagggcagtTtttataatagctgaggggga	10	12	15	4	0	0	1	0	1	0	0	1	3	1	3	1	4	1	4	1	4	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:61859073T>A	ENST00000577390.1	-	5	1632	c.678A>T	c.(676-678)aaA>aaT	p.K226N	CDH8_ENST00000584337.1_Missense_Mutation_p.K226N|CDH8_ENST00000299345.6_Missense_Mutation_p.K226N|CDH8_ENST00000577730.1_Missense_Mutation_p.K226N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	226	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAAGGGCAGTTTTTATAATAG	0.448													18	44					0	0	0	0	A	61859073	T	A	61859073	3	1	364	1	0	0	0	0	1	0	0	0	3145	1838	64	5	1753	5	CDH8	16	61859073	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	3321347	61859073	28495680	1640	70569											
CDH11	1009	broad.mit.edu	37	chr16	65006865	65006865	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttcctctctatccagaggTtttgtagttttaataaaacc	10	17	6	8	0	1	1	0	0	1	1	4	1	3	1	3	1	1	4	3	1	5	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:65006865T>C	ENST00000394156.3	-	9	1785	c.1332A>G	c.(1330-1332)aaA>aaG	p.K444K	CDH11_ENST00000268603.4_Silent_p.K444K|CDH11_ENST00000566827.1_Silent_p.K318K			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	444	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TATCCAGAGGTTTTGTAGTTT	0.403			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			16	42					0	0	0	0	C	65006865	T	C	65006865	2	2	364	1	0	0	0	0	0	0	0	1	3126	1722	60	5		5	CDH11	16	65006865	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	3147792	65006865	25347888	1641	70570											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66768138	66768138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacactgaaggcagaacctcCgcaggtgtgactggataaag	13	7	12	9	1	0	3	0	2	0	1	1	4	1	4	2	3	2	2	2	3	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:66768138C>T	ENST00000258198.2	-	6	982	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.R220Q|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.R182Q|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	259					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GCAGAACCTCCGCAGGTGTGA	0.527													14	55					0	0	0	0	T	66768138	C	T	66768138	3	4	364	1	0	0	0	0	1	0	0	0	4881	652	23	1	734	1	DYNC1LI2	16	66768138	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1761273	66768138	23586615	1642	70571											
KCTD19	146212	broad.mit.edu	37	chr16	67328009	67328009	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacctgaccaggtttccCttagccttgttccatggagt	6	14	10	11	0	0	1	0	1	0	0	2	3	2	3	5	3	1	2	5	3	1	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67328009C>T	ENST00000304372.5	-	12	1711	c.1656G>A	c.(1654-1656)aaG>aaA	p.K552K		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	552						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCAGGTTTCCCTTAGCCTTGT	0.562													43	196					0	0	0	0	T	67328009	C	T	67328009	2	4	364	1	0	0	0	0	0	0	0	1	8159	680	24	4		4	KCTD19	16	67328009	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	559871	67328009	23026744	1643	70572											
RLTPR	146206	broad.mit.edu	37	chr16	67690200	67690200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacccactctgtgtctgCtggtgagtgagggccactgt	5	10	13	13	1	2	2	0	2	2	0	2	2	2	2	3	2	1	2	3	2	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67690200C>T	ENST00000334583.6	+	34	4140	c.3812C>T	c.(3811-3813)gCt>gTt	p.A1271V	RLTPR_ENST00000545661.1_Missense_Mutation_p.A1235V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1271										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TCTGTGTCTGCTGGTGAGTGA	0.587													23	96					0	0	0	0	T	67690200	C	T	67690200	3	4	364	1	0	0	0	0	1	0	0	0	13479	797	28	4	3946	4	RLTPR	16	67690200	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	362191	67690200	22664553	1644	70573											
ACD	65057	broad.mit.edu	37	chr16	67694198	67694198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccccgcctttcctcggaaGaggaagctccttcgctgggc	5	8	13	15	3	0	1	0	0	0	1	4	3	2	3	5	4	1	2	5	4	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67694198G>A	ENST00000219251.8	-	1	515	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	ACD_ENST00000393919.4_Missense_Mutation_p.L62F	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	62					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L62F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCCTCGGAAGAGGAAGCTCC	0.736													7	35					0	0	0	0	A	67694198	G	A	67694198	3	1	364	1	0	0	0	0	1	0	0	0	135	942	33	2	1498	2	ACD	16	67694198	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3998	67694198	22660555	1645	70574											
RANBP10	57610	broad.mit.edu	37	chr16	67763288	67763288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggaagaggacgaggaggagGaggaggacgaggatgaggag	14	1	24	2	2	0	2	0	1	0	1	0	13	0	11	0	9	0	0	0	9	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67763288G>A	ENST00000317506.3	-	10	1362	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	RANBP10_ENST00000448631.2_Missense_Mutation_p.S360F|RANBP10_ENST00000411657.2_Missense_Mutation_p.S299F|RANBP10_ENST00000602677.1_Missense_Mutation_p.S416F|RANBP10_ENST00000536251.1_Missense_Mutation_p.S187F	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	416	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		cgaggaggaggaggaggacga	0.567													22	64					0	0	0	0	A	67763288	G	A	67763288	3	1	364	1	0	0	0	0	1	0	0	0	13108	1174	41	2	635	2	RANBP10	16	67763288	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	69090	67763288	22591465	1646	70575											
MARVELD3	91862	broad.mit.edu	37	chr16	71674608	71674608	+	Missense_Mutation	SNP	C	C	T																															gaagtggctcctcacggaggCcgccttcagcctcctagcgg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:71674608C>T	ENST00000299952.4	+	3	954	c.911C>T	c.(910-912)gCc>gTc	p.A304V	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	307	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTCACGGAGGCCGCCTTCAGC	0.557													21	32					0	0	0	0	T	71674608	C	T	71674608	3	4	364	1	0	0	0	0	1	0	0	0	9388	739	26	4	1536	4	MARVELD3	16	71674608	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3911320	71674608	18680145	1647	70576	950	2									
MARVELD3	91862	broad.mit.edu	37	chr16	71674609	71674609	+	Silent	SNP	C	C	T																															aagtggctcctcacggaggcCgccttcagcctcctagcggc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:71674609C>T	ENST00000299952.4	+	3	955	c.912C>T	c.(910-912)gcC>gcT	p.A304A	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	307	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TCACGGAGGCCGCCTTCAGCC	0.557													22	31					0	0	0	0	T	71674609	C	T	71674609	2	4	364	1	0	0	0	0	0	0	0	1	9388	639	23	1		1	MARVELD3	16	71674609	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	71674609	18680144	1648	70577	950	2									
AP1G1	164	broad.mit.edu	37	chr16	71784220	71784220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attggggactgcatcatcacGaacataacttcctgcctaaa	13	10	7	11	1	2	0	2	0	0	0	3	2	3	1	2	2	4	1	2	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:71784220G>A	ENST00000299980.4	-	14	1741	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	AP1G1_ENST00000569748.1_Missense_Mutation_p.R434C|AP1G1_ENST00000393512.3_Missense_Mutation_p.R437C|AP1G1_ENST00000423132.2_Missense_Mutation_p.R437C|AP1G1_ENST00000433195.2_Missense_Mutation_p.R457C	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	434					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GCATCATCACGAACATAACTT	0.373													12	99					0	0	0	0	A	71784220	G	A	71784220	3	1	364	1	0	0	0	0	1	0	0	0	733	1058	37	1	1208	1	AP1G1	16	71784220	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	109611	71784220	18570533	1649	70578											
BCAR1	9564	broad.mit.edu	37	chr16	75301841	75301841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatccttgggtgtgggcCtgggggcagccagaggagcc	6	6	20	9	0	0	1	0	0	0	1	1	3	1	3	4	6	2	1	4	6	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:75301841C>T	ENST00000393422.2	-	1	110	c.38G>A	c.(37-39)aGg>aAg	p.R13K		NM_001170715.1	NP_001164186.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	276	SH3.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGGTGTGGGCCTGGGGGCAGC	0.617													3	15					0	0	0	0	T	75301841	C	T	75301841	3	4	364	1	0	0	0	0	1	0	0	0	1352	681	24	4	2999	4	BCAR1	16	75301841	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3517621	75301841	15052912	1650	70579											
CNTNAP4	85445	broad.mit.edu	37	chr16	76486564	76486564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggcttctgctgttcagtGaacttcagctgatttcaggg	7	13	12	9	0	4	2	3	2	1	0	4	2	4	2	0	2	3	4	0	2	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:76486564G>A	ENST00000307431.8	+	9	1613	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E338K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.E414K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E362K	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	411	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCTGTTCAGTGAACTTCAGCT	0.463													19	77					0	0	0	0	A	76486564	G	A	76486564	3	1	364	1	0	0	0	0	1	0	0	0	3679	1291	45	2	1274	2	CNTNAP4	16	76486564	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1184723	76486564	13868189	1651	70580											
VAT1L	57687	broad.mit.edu	37	chr16	77910306	77910306	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacatcgttttggattgcctCtgtggggacaacactggaaa	10	11	12	8	1	1	0	0	0	1	0	2	4	1	3	1	4	2	1	1	4	2	3	rs150412236	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:77910306C>T	ENST00000302536.2	+	5	915	c.762C>T	c.(760-762)ctC>ctT	p.L254L	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	254							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TGGATTGCCTCTGTGGGGACA	0.483													27	121					0	0	0	0	T	77910306	C	T	77910306	2	4	364	1	0	0	0	0	0	0	0	1	17226	900	32	2		2	VAT1L	16	77910306	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1423742	77910306	12444447	1652	70581											
VAT1L	57687	broad.mit.edu	37	chr16	77918599	77918599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatctgctcttcaaacaagGccgggcgggcctcattcggg	9	8	12	12	3	4	0	2	0	2	0	5	0	4	0	2	4	2	1	2	4	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:77918599G>A	ENST00000302536.2	+	7	1130	c.977G>A	c.(976-978)gGc>gAc	p.G326D		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	326							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TTCAAACAAGGCCGGGCGGGC	0.532													10	29					0	0	0	0	A	77918599	G	A	77918599	3	1	364	1	0	0	0	0	1	0	0	0	17226	1203	42	4	1003	4	VAT1L	16	77918599	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	8293	77918599	12436154	1653	70582											
VAT1L	57687	broad.mit.edu	37	chr16	77918680	77918680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatcaagcctgtggtggactCcttgtgggctctggaggagg	6	10	17	8	0	2	0	1	0	1	0	3	4	3	3	2	6	1	1	2	6	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:77918680C>T	ENST00000302536.2	+	7	1211	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	353							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GTGGTGGACTCCTTGTGGGCT	0.483													3	19					0	0	0	0	T	77918680	C	T	77918680	3	4	364	1	0	0	0	0	1	0	0	0	17226	855	30	2	1084	2	VAT1L	16	77918680	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	81	77918680	12436073	1654	70583											
WWOX	51741	broad.mit.edu	37	chr16	78458951	78458951	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtctcctcagagtcccatCggtgggtttgaattgcatat	7	14	11	9	1	2	2	1	1	1	1	5	2	3	2	2	3	1	2	2	3	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:78458951C>T	ENST00000566780.1	+	7	1156	c.791_splice	c.e7+1	p.R264_splice	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Splice_Site_p.R264_splice|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	264	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		AGAGTCCCATCGGTGGGTTTG	0.473													39	82					0	0	0	0	T	78458951	C	T	78458951	5	4	364	1	0	0	0	0	0	0	1	0	17510	898	31	1	878	1	WWOX	16	78458951	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	540271	78458951	11895802	1655	70584											
CDYL2	124359	broad.mit.edu	37	chr16	80646545	80646545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgcgacgcccaggatctggGggaaggtgtaggaggagcag	9	4	20	8	3	1	0	0	0	1	0	1	5	1	4	1	6	1	2	1	6	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:80646545G>A	ENST00000299564.8	-	5	1351	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L	CDYL2_ENST00000563890.1_Missense_Mutation_p.P400L|CDYL2_ENST00000562812.1_Missense_Mutation_p.P400L|CDYL2_ENST00000566173.1_Missense_Mutation_p.P400L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	399						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CAGGATCTGGGGGAAGGTGTA	0.632													18	102					0	0	0	0	A	80646545	G	A	80646545	3	1	364	1	0	0	0	0	1	0	0	0	3215	1232	43	4	336	4	CDYL2	16	80646545	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2187594	80646545	9708208	1656	70585											
CENPN	55839	broad.mit.edu	37	chr16	81045703	81045703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctgtagttcagcacttgatCcatctgtgtgaggtaacagt	9	14	10	8	0	3	2	1	2	2	0	4	2	4	2	1	1	2	4	1	1	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:81045703C>T	ENST00000305850.5	+	2	949	c.159C>T	c.(157-159)atC>atT	p.I53I	CENPN_ENST00000393335.3_Silent_p.I53I|CENPN_ENST00000428963.2_Silent_p.I53I|CENPN_ENST00000439957.3_Silent_p.I53I|CENPN_ENST00000299572.5_Silent_p.I53I|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000569461.1_3'UTR	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	53					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						AGCACTTGATCCATCTGTGTG	0.403													8	57					0	0	0	0	T	81045703	C	T	81045703	2	4	364	1	0	0	0	0	0	0	0	1	3267	845	30	2		2	CENPN	16	81045703	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	399158	81045703	9309050	1657	70586											
PKD1L2	114780	broad.mit.edu	37	chr16	81134881	81134881	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctacgatctccccttcCtccgacagctgcaagagaaa	13	8	6	14	2	2	1	0	0	2	1	5	4	4	1	4	0	3	2	4	0	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:81134881C>T	ENST00000533478.1	-	0	5281				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTCCCCTTCCTCCGACAGCT	0.458													9	40					0	0	0	0	T	81134881	C	T	81134881	1	4	364	0	1	0	0	0	0	0	0	0	12037	680	24	4		4	PKD1L2	16	81134881	RNA	SNP	C	TCGA-D6-6516-01A-11D-1870-08	89178	81134881	9219872	1658	70587											
CMIP	80790	broad.mit.edu	37	chr16	81725433	81725433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgcttcaacccattcCattccccaaagagtaagtcc	11	11	5	14	0	1	1	1	0	0	1	4	1	4	1	5	0	2	3	5	0	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:81725433C>T	ENST00000537098.3	+	11	1514	c.1442C>T	c.(1441-1443)cCa>cTa	p.P481L	CMIP_ENST00000539778.2_Missense_Mutation_p.P387L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.P328L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	447						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CAACCCATTCCATTCCCCAAA	0.547													12	24					0	0	0	0	T	81725433	C	T	81725433	3	4	364	1	0	0	0	0	1	0	0	0	3608	594	21	4	1506	4	CMIP	16	81725433	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	590552	81725433	8629320	1659	70588											
KCNG4	93107	broad.mit.edu	37	chr16	84256431	84256431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctcggcctctcgccgtcctCcgggggctcctcagacaccg	3	7	12	19	5	2	1	1	0	1	1	7	1	5	1	6	3	0	2	6	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:84256431C>T	ENST00000308251.4	-	3	1020	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	318						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TCGCCGTCCTCCGGGGGCTCC	0.647													3	18					0	0	0	0	T	84256431	C	T	84256431	3	4	364	1	0	0	0	0	1	0	0	0	8083	864	30	2	609	2	KCNG4	16	84256431	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2530998	84256431	6098322	1660	70589											
KCNG4	93107	broad.mit.edu	37	chr16	84256561	84256561	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaccgcaggcagaactccagGgagaaccaggccacgcagat	14	2	12	13	2	0	3	0	0	0	3	1	4	1	3	4	3	3	3	4	3	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:84256561G>A	ENST00000308251.4	-	3	890	c.822C>T	c.(820-822)tcC>tcT	p.S274S		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	274						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGAACTCCAGGGAGAACCAGG	0.567													3	26					0	0	0	0	A	84256561	G	A	84256561	2	1	364	1	0	0	0	0	0	0	0	1	8083	1219	43	4		4	KCNG4	16	84256561	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	130	84256561	6098192	1661	70590											
IRF8	3394	broad.mit.edu	37	chr16	85953824	85953824	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcgctccaaactcattctCgtgcaggtaagtatgggcag	9	11	11	10	2	2	0	1	0	1	0	4	0	3	0	1	2	3	5	1	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:85953824C>T	ENST00000268638.5	+	8	1520	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	IRF8_ENST00000562492.1_Silent_p.L162L	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	366					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AACTCATTCTCGTGCAGGTAA	0.507													8	17					0	0	0	0	T	85953824	C	T	85953824	2	4	364	1	0	0	0	0	0	0	0	1	7889	871	31	1		1	IRF8	16	85953824	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1697263	85953824	4400929	1662	70591											
BANP	54971	broad.mit.edu	37	chr16	88061239	88061239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcggagaacgcccaactcgtCctcctactgcccttcaggta	8	8	9	16	3	1	1	1	0	0	1	4	2	3	1	4	2	4	1	4	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:88061239C>T	ENST00000393207.1	+	8	1243	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	BANP_ENST00000286122.7_Missense_Mutation_p.S341F|BANP_ENST00000479780.2_Missense_Mutation_p.S310F|BANP_ENST00000355163.5_Missense_Mutation_p.S316F|BANP_ENST00000355022.4_Missense_Mutation_p.S310F|BANP_ENST00000538234.1_Missense_Mutation_p.S349F|BANP_ENST00000393208.2_Missense_Mutation_p.S310F	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	341	Interaction with CUX1 and HDAC1 (By similarity).|Necessary and sufficient for TP53 activation (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCAACTCGTCCTCCTACTGC	0.697													6	71					0	0	0	0	T	88061239	C	T	88061239	3	4	364	1	0	0	0	0	1	0	0	0	1314	855	30	2	1090	2	BANP	16	88061239	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2107415	88061239	2293514	1663	70592											
ANKRD11	29123	broad.mit.edu	37	chr16	89341587	89341587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggggctccgccagggaggGagggggtgcgatctacaggc	7	4	20	10	2	1	0	0	0	1	0	2	3	2	2	2	7	2	1	2	7	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:89341587G>A	ENST00000301030.4	-	10	7943	c.7483C>T	c.(7483-7485)Ccc>Tcc	p.P2495S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P2495S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2495						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)		GCCAGGGAGGGAGGGGGTGCG	0.637													9	15					0	0	0	0	A	89341587	G	A	89341587	3	1	364	1	0	0	0	0	1	0	0	0	639	1174	41	2	524	2	ANKRD11	16	89341587	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1280348	89341587	1013166	1664	70593											
SPATA2L	124044	broad.mit.edu	37	chr16	89764657	89764657	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcttctggaagctcttcagGaggaggtcgtctgagagcac	9	10	13	9	1	5	1	1	1	4	1	6	5	5	4	0	4	2	2	0	4	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:89764657G>A	ENST00000289805.5	-	3	428	c.360C>T	c.(358-360)ctC>ctT	p.L120L	SPATA2L_ENST00000335360.7_Silent_p.L120L	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	120								p.L120L(1)		breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCTCTTCAGGAGGAGGTCGT	0.647													30	211					0	0	0	0	A	89764657	G	A	89764657	2	1	364	1	0	0	0	0	0	0	0	1	15099	1161	41	2		2	SPATA2L	16	89764657	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	423070	89764657	590096	1665	70594											
RNMTL1	55178	broad.mit.edu	37	chr17	685749	685749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtgaaagtggtgtttccttCcggagaggtggtggaacaga	10	10	16	5	1	0	3	0	1	0	2	2	5	2	4	2	5	1	1	2	5	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:685749C>T	ENST00000304478.4	+	1	237	c.131C>T	c.(130-132)tCc>tTc	p.S44F		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	44					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		GTGTTTCCTTCCGGAGAGGTG	0.657													7	43					0	0	0	0	T	685749	C	T	685749	3	4	364	1	0	0	0	0	1	0	0	0	13592	855	30	2	133	2	RNMTL1	17	685749	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08		685749	80509461	1666	70595											
ABR	29	broad.mit.edu	37	chr17	915171	915171	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcctcgatacccctcttCtccacctcctccacacactg	7	10	2	22	1	2	0	0	0	2	0	7	1	5	0	8	0	1	0	8	0	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:915171C>T	ENST00000544583.2	-	19	2477	c.1878G>A	c.(1876-1878)gaG>gaA	p.E626E	ABR_ENST00000543210.2_Silent_p.E123E|ABR_ENST00000302538.5_Silent_p.E672E|ABR_ENST00000572441.1_Intron|ABR_ENST00000536794.2_Silent_p.E454E|ABR_ENST00000574437.1_Silent_p.E626E|ABR_ENST00000291107.2_Silent_p.E635E	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	672					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TACCCCTCTTCTCCACCTCCT	0.652													16	49					0	0	0	0	T	915171	C	T	915171	2	4	364	1	0	0	0	0	0	0	0	1	99	912	32	2		2	ABR	17	915171	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	229422	915171	80280039	1667	70596											
TUSC5	286753	broad.mit.edu	37	chr17	1183397	1183397	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atactcctcaccaaggcagaGaacaaggatgacaagaccct	16	5	8	12	0	1	3	1	1	0	2	2	5	2	4	3	2	2	1	3	2	5	1	rs75025906	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1183397G>A	ENST00000333813.3	+	1	441	c.102G>A	c.(100-102)gaG>gaA	p.E34E		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	34			E -> D.		response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCAAGGCAGAGAACAAGGATG	0.607													18	70					0	0	0	0	A	1183397	G	A	1183397	2	1	364	1	0	0	0	0	0	0	0	1	16875	933	33	2		2	TUSC5	17	1183397	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	268226	1183397	80011813	1668	70597											
PRPF8	10594	broad.mit.edu	37	chr17	1584266	1584266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagattgttgtacaagtaagGaaaagcaatcttgtactcag	16	11	9	5	0	2	1	1	0	1	1	2	2	2	2	0	1	3	5	0	1	8	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1584266G>A	ENST00000572621.1	-	6	1214	c.949C>T	c.(949-951)Cct>Tct	p.P317S	PRPF8_ENST00000304992.6_Missense_Mutation_p.P317S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	317						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TACAAGTAAGGAAAAGCAATC	0.443													47	212					0	0	0	0	A	1584266	G	A	1584266	3	1	364	1	0	0	0	0	1	0	0	0	12655	1174	41	2	6206	2	PRPF8	17	1584266	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	400869	1584266	79610944	1669	70598											
PRPF8	10594	broad.mit.edu	37	chr17	1584903	1584903	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcatccaccaagtctgtcagGagctgattagccaggcggta	10	9	11	11	1	3	1	2	1	1	0	4	2	4	2	3	3	2	2	3	3	3	2	rs145114613		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1584903G>A	ENST00000572621.1	-	5	1000	c.735C>T	c.(733-735)ctC>ctT	p.L245L	PRPF8_ENST00000304992.6_Silent_p.L245L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	245						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGTCTGTCAGGAGCTGATTAG	0.473													42	149					0	0	0	0	A	1584903	G	A	1584903	2	1	364	1	0	0	0	0	0	0	0	1	12655	1161	41	2		2	PRPF8	17	1584903	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	637	1584903	79610307	1670	70599											
SERPINF1	5176	broad.mit.edu	37	chr17	1674431	1674431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctccttgacacggtcactgCcccccagaagaacctcaaga	11	6	8	16	1	2	4	2	1	0	3	3	4	3	4	5	1	2	1	5	1	3	1	rs148005190		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1674431C>T	ENST00000254722.4	+	4	555	c.392C>T	c.(391-393)gCc>gTc	p.A131V	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	131					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						ACGGTCACTGCCCCCCAGAAG	0.547													11	43					0	0	0	0	T	1674431	C	T	1674431	3	4	364	1	0	0	0	0	1	0	0	0	14201	739	26	4	402	4	SERPINF1	17	1674431	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	89528	1674431	79520779	1671	70600											
OR1A1	8383	broad.mit.edu	37	chr17	3118956	3118956	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctacactggaattcatcctCctgggagttactggtcagca	9	12	9	11	0	3	0	2	0	1	0	5	2	5	2	2	3	3	2	2	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:3118956C>T	ENST00000304094.1	+	1	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L14L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						AATTCATCCTCCTGGGAGTTA	0.418													17	67					0	0	0	0	T	3118956	C	T	3118956	2	4	364	1	0	0	0	0	0	0	0	1	11020	842	30	2		2	OR1A1	17	3118956	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1444525	3118956	78076254	1672	70601											
ZZEF1	23140	broad.mit.edu	37	chr17	3980240	3980240	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccactgtactgtgagaaaagGgattccaaaatcgctctcat	13	10	8	10	1	1	1	1	1	1	1	4	3	2	2	2	1	1	2	2	1	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:3980240G>A	ENST00000381638.2	-	20	3157	c.3033C>T	c.(3031-3033)tcC>tcT	p.S1011S	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1011							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTGAGAAAAGGGATTCCAAAA	0.368													10	44					0	0	0	0	A	3980240	G	A	3980240	2	1	364	1	0	0	0	0	0	0	0	1	18346	1219	43	4		4	ZZEF1	17	3980240	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	861284	3980240	77214970	1673	70602											
ARRB2	409	broad.mit.edu	37	chr17	4620534	4620534	+	Missense_Mutation	SNP	C	C	T																															accccagaatcttccatgctCcgtcacactgcagccaggcc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:4620534C>T	ENST00000269260.2	+	6	613	c.380C>T	c.(379-381)tCc>tTc	p.S127F	ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.S127F|ARRB2_ENST00000346341.2_Missense_Mutation_p.S112F|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.S112F|ARRB2_ENST00000412477.3_Missense_Mutation_p.S148F|ARRB2_ENST00000572457.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	127					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CTTCCATGCTCCGTCACACTG	0.572													13	87					0	0	0	0	T	4620534	C	T	4620534	3	4	364	1	0	0	0	0	1	0	0	0	985	855	30	2	402	2	ARRB2	17	4620534	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	640294	4620534	76574676	1674	70603	951	2									
ARRB2	409	broad.mit.edu	37	chr17	4620535	4620535	+	Silent	SNP	C	C	T																															ccccagaatcttccatgctcCgtcacactgcagccaggccc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:4620535C>T	ENST00000269260.2	+	6	614	c.381C>T	c.(379-381)tcC>tcT	p.S127S	ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.S127S|ARRB2_ENST00000346341.2_Silent_p.S112S|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000381488.6_Silent_p.S112S|ARRB2_ENST00000412477.3_Silent_p.S148S|ARRB2_ENST00000572457.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	127					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TTCCATGCTCCGTCACACTGC	0.572													12	87					0	0	0	0	T	4620535	C	T	4620535	2	4	364	1	0	0	0	0	0	0	0	1	985	639	23	1		1	ARRB2	17	4620535	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	4620535	76574675	1675	70604	951	2									
USP6	9098	broad.mit.edu	37	chr17	5042964	5042964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggcaggctgaacactgcgGagagggtgaggttggctttc	7	9	17	8	1	0	3	0	2	0	1	1	4	0	3	0	6	2	4	0	6	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5042964G>A	ENST00000574788.1	+	22	3723	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E	USP6_ENST00000304328.5_Missense_Mutation_p.G181E|USP6_ENST00000250066.6_Missense_Mutation_p.G498E|USP6_ENST00000332776.4_Missense_Mutation_p.G498E			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	498					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GAACACTGCGGAGAGGGTGAG	0.602			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								7	56					0	0	0	0	A	5042964	G	A	5042964	3	1	364	1	0	0	0	0	1	0	0	0	17182	1174	41	2	1543	2	USP6	17	5042964	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	422429	5042964	76152246	1676	70605											
RPAIN	84268	broad.mit.edu	37	chr17	5323605	5323605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgccttggaaagaggctttCcggcaggtgggtatggggtt	6	10	17	8	2	0	1	0	0	0	1	1	2	1	2	3	7	0	4	3	7	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5323605C>T	ENST00000381209.3	+	1	645	c.75C>T	c.(73-75)ttC>ttT	p.F25F	RPAIN_ENST00000574003.1_Silent_p.F25F|RPAIN_ENST00000536255.2_Silent_p.F25F|RPAIN_ENST00000381208.5_Silent_p.F25F|RPAIN_ENST00000405578.4_Silent_p.F25F|RPAIN_ENST00000327154.6_Silent_p.F25F	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	25					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						AAGAGGCTTTCCGGCAGGTGG	0.632													7	34					0	0	0	0	T	5323605	C	T	5323605	2	4	364	1	0	0	0	0	0	0	0	1	13625	854	30	2		2	RPAIN	17	5323605	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	280641	5323605	75871605	1677	70606											
RPAIN	84268	broad.mit.edu	37	chr17	5329615	5329615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtggcctgtccatcccatCtcatgtgagtgttccacaca	7	12	9	13	0	1	1	1	1	1	0	5	1	4	1	4	1	0	1	4	1	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5329615C>T	ENST00000381209.3	+	5	1055	c.485C>T	c.(484-486)tCt>tTt	p.S162F	RPAIN_ENST00000574003.1_Intron|RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000381208.5_Missense_Mutation_p.S162F|RPAIN_ENST00000405578.4_Missense_Mutation_p.S162F|RPAIN_ENST00000327154.6_Intron|CTC-524C5.2_ENST00000575890.1_RNA	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	162					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						TCCATCCCATCTCATGTGAGT	0.488													23	91					0	0	0	0	T	5329615	C	T	5329615	3	4	364	1	0	0	0	0	1	0	0	0	13625	913	32	2	503	2	RPAIN	17	5329615	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	6010	5329615	75865595	1678	70607											
MIS12	79003	broad.mit.edu	37	chr17	5392534	5392534	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagattttcagcatctcCagaaagaaattgaacagtta	17	10	8	6	0	2	4	1	1	1	3	3	5	2	5	1	1	2	2	1	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5392534C>T	ENST00000381165.3	+	3	905	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	MIS12_ENST00000573759.1_Nonsense_Mutation_p.Q118*	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN	MIS12 kinetochore complex component	118					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						TCAGCATCTCCAGAAAGAAAT	0.378													16	49					0	0	0	0	T	5392534	C	T	5392534	4	4	364	1	0	0	0	0	0	1	0	0	9663	595	21	4	354	4	MIS12	17	5392534	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	62919	5392534	75802676	1679	70608											
PITPNM3	83394	broad.mit.edu	37	chr17	6364730	6364730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagatggccttctgcCgcagcgggtcatgcaccagc	8	6	14	13	2	2	1	1	0	1	1	2	2	2	2	3	3	4	3	3	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:6364730C>T	ENST00000262483.8	-	18	2540	c.2453G>A	c.(2452-2454)cGg>cAg	p.R818Q	ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Missense_Mutation_p.R782Q	NM_031220.3	NP_112497.2												p.R818L(1)									GGCCTTCTGCCGCAGCGGGTC	0.632													42	35					0	0	0	0	T	6364730	C	T	6364730	3	4	364	1	0	0	0	0	1	0	0	0	12024	652	23	1	483	1	PITPNM3	17	6364730	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	972196	6364730	74830480	1680	70609											
SLC13A5	284111	broad.mit.edu	37	chr17	6594098	6594098	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactgtcaggttacttacCatggaggcaaagatgggcag	11	8	12	10	0	1	1	1	0	0	1	1	2	1	2	2	4	2	3	2	4	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:6594098C>T	ENST00000433363.2	-	10	1670	c.1437_splice	c.e10+1	p.M479_splice	SLC13A5_ENST00000381074.4_Splice_Site_p.M436_splice|SLC13A5_ENST00000573648.1_Splice_Site_p.M479_splice|SLC13A5_ENST00000293800.6_Splice_Site_p.M462_splice	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	479						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGTTACTTACCATGGAGGCAA	0.552													27	107					0	0	0	0	T	6594098	C	T	6594098	5	4	364	1	0	0	0	0	0	0	1	0	14483	608	21	4	281	4	SLC13A5	17	6594098	Splice_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	229368	6594098	74601112	1681	70610											
ACAP1	9744	broad.mit.edu	37	chr17	7250425	7250425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggggaagggagcctgggGgagtcgggcacgtggtggcc	6	4	22	9	2	0	0	0	0	0	0	1	3	0	3	3	8	1	1	3	8	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7250425G>A	ENST00000158762.3	+	14	1413	c.1207G>A	c.(1207-1209)Gga>Aga	p.G403R		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	403					intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GGAGCCTGGGGGAGTCGGGCA	0.677													20	16					0	0	0	0	A	7250425	G	A	7250425	3	1	364	1	0	0	0	0	1	0	0	0	118	1233	43	4	1261	4	ACAP1	17	7250425	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	656327	7250425	73944785	1682	70611											
TP53	7157	broad.mit.edu	37	chr17	7577153	7577153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttccgtcccagtagattaCcactactcaggataggaaaa	13	10	8	10	1	1	1	1	0	0	1	3	3	3	3	3	2	2	2	3	2	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7577153C>A	ENST00000420246.2	-	8	917	c.785G>T	c.(784-786)gGt>gTt	p.G262V	TP53_ENST00000269305.4_Missense_Mutation_p.G262V|TP53_ENST00000455263.2_Missense_Mutation_p.G262V|TP53_ENST00000445888.2_Missense_Mutation_p.G262V|TP53_ENST00000359597.4_Missense_Mutation_p.G262V|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	262	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|GN -> PD (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G262V(19)|p.0?(8)|p.G262D(4)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262fs*83(2)|p.G262_S269delGNLLGRNS(2)|p.G262del(2)|p.G262H(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGTAGATTACCACTACTCAG	0.517		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	3					0.0215528	0.021689	1	0	A	7577153	C	A	7577153	3	1	364	1	0	0	0	0	1	0	0	0	16476	507	18	4	501	4	TP53	17	7577153	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	326728	7577153	73618057	1683	70612											
DNAH2	146754	broad.mit.edu	37	chr17	7721717	7721717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccaccaagctctccaaccCccactacagcccagagacct	12	4	4	21	0	1	1	0	0	1	1	2	2	1	1	7	0	4	1	7	0	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7721717C>T	ENST00000572933.1	+	69	11935	c.10475C>T	c.(10474-10476)cCc>cTc	p.P3492L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P3492L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3492	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCTCCAACCCCCACTACAGC	0.522													28	176					0	0	0	0	T	7721717	C	T	7721717	3	4	364	1	0	0	0	0	1	0	0	0	4639	623	22	4	10745	4	DNAH2	17	7721717	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	144564	7721717	73473493	1684	70613											
CNTROB	116840	broad.mit.edu	37	chr17	7849045	7849045	+	Splice_Site	SNP	G	G	A																															ttctgcctctctcctggtcaGgctcctcctgctggaccctc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7849045G>A	ENST00000380262.3	+	13	2659		c.e13-1		CNTROB_ENST00000563694.1_Splice_Site|CNTROB_ENST00000565740.1_Splice_Site|CNTROB_ENST00000380255.3_Splice_Site	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein						centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTCCTGGTCAGGCTCCTCCTG	0.537													22	51					0	0	0	0	A	7849045	G	A	7849045	5	1	364	1	0	0	0	0	0	0	1	0	3681	1014	35	4	1784	4	CNTROB	17	7849045	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	127328	7849045	73346165	1685	70614	952	2									
CNTROB	116840	broad.mit.edu	37	chr17	7849046	7849046	+	Splice_Site	SNP	G	G	A																															tctgcctctctcctggtcagGctcctcctgctggaccctcc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7849046G>A	ENST00000380262.3	+	13	2660	c.1734_splice	c.e13-1	p.A579_splice	CNTROB_ENST00000563694.1_Splice_Site_p.A579_splice|CNTROB_ENST00000565740.1_Splice_Site_p.A579_splice|CNTROB_ENST00000380255.3_Splice_Site_p.R524_splice	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	579	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TCCTGGTCAGGCTCCTCCTGC	0.537													22	50					0	0	0	0	A	7849046	G	A	7849046	5	1	364	1	0	0	0	0	0	0	1	0	3681	1217	42	4	1785	4	CNTROB	17	7849046	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	7849046	73346164	1686	70615	952	2									
GUCY2D	3000	broad.mit.edu	37	chr17	7917309	7917309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgctgggcagagcagcCggaacttcggccctccatgg	7	6	15	13	2	0	1	0	0	0	1	2	2	1	2	3	4	4	4	3	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7917309C>T	ENST00000254854.4	+	12	2525	c.2375C>T	c.(2374-2376)cCg>cTg	p.P792L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	792	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GCAGAGCAGCCGGAACTTCGG	0.637													9	81					0	0	0	0	T	7917309	C	T	7917309	3	4	364	1	0	0	0	0	1	0	0	0	6947	652	23	1	2417	1	GUCY2D	17	7917309	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	68263	7917309	73277901	1687	70616											
GUCY2D	3000	broad.mit.edu	37	chr17	7918202	7918202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctgaggccttgaagacgGggacaccagtggagcccgag	9	5	17	10	2	0	3	0	2	0	1	0	6	0	5	3	5	1	1	3	5	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7918202G>A	ENST00000254854.4	+	14	2752	c.2602G>A	c.(2602-2604)Ggg>Agg	p.G868R		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	868					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CTTGAAGACGGGGACACCAGT	0.597													33	26					0	0	0	0	A	7918202	G	A	7918202	3	1	364	1	0	0	0	0	1	0	0	0	6947	1232	43	4	2652	4	GUCY2D	17	7918202	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	893	7918202	73277008	1688	70617											
PFAS	5198	broad.mit.edu	37	chr17	8161418	8161418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctccttgggcctccagctcCcagacggccagcggcgtgag	5	6	14	16	3	0	2	0	1	0	1	3	2	3	2	5	3	2	2	5	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:8161418C>T	ENST00000314666.6	+	11	1370	c.1237C>T	c.(1237-1239)Cca>Tca	p.P413S	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	413					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTCCAGCTCCCAGACGGCCA	0.622													17	46					0	0	0	0	T	8161418	C	T	8161418	3	4	364	1	0	0	0	0	1	0	0	0	11826	623	22	4	1275	4	PFAS	17	8161418	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	243216	8161418	73033792	1689	70618											
PFAS	5198	broad.mit.edu	37	chr17	8169333	8169333	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcactcaggggctgctgaAaggtgagtgaagacccctgg	10	7	14	10	0	2	4	2	3	0	1	2	4	2	4	2	4	1	2	2	4	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:8169333A>C	ENST00000314666.6	+	21	2832	c.2699A>C	c.(2698-2700)aAa>aCa	p.K900T	PFAS_ENST00000545834.1_Missense_Mutation_p.K476T	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	900					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGGCTGCTGAAAGGTGAGTGA	0.612													5	30					0	0	0	0	C	8169333	A	C	8169333	3	2	364	1	0	0	0	0	1	0	0	0	11826	14	1	5	2777	5	PFAS	17	8169333	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	7915	8169333	73025877	1690	70619											
PFAS	5198	broad.mit.edu	37	chr17	8172385	8172385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagagcagtaccctctgaatCccaatgggtccccagggggc	9	6	12	14	0	1	2	0	1	1	1	3	2	3	2	4	3	2	2	4	3	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:8172385C>T	ENST00000314666.6	+	28	3953	c.3820C>T	c.(3820-3822)Ccc>Tcc	p.P1274S	PFAS_ENST00000545834.1_Missense_Mutation_p.P850S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1274	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCTCTGAATCCCAATGGGTC	0.627													50	29					0	0	0	0	T	8172385	C	T	8172385	3	4	364	1	0	0	0	0	1	0	0	0	11826	855	30	2	3926	2	PFAS	17	8172385	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3052	8172385	73022825	1691	70620											
MYH13	8735	broad.mit.edu	37	chr17	10205018	10205018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgtgttggcctgctcCtcctgcacaggagacagagg	7	8	14	12	1	0	2	0	0	0	2	2	3	2	2	3	3	4	4	3	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10205018C>T	ENST00000418404.3	-	39	5833	c.5670G>A	c.(5668-5670)gaG>gaA	p.E1890E	MYH13_ENST00000570743.1_Silent_p.E1890E|MYH13_ENST00000252172.4_Silent_p.E1890E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1890					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGCCTGCTCCTCCTGCACAG	0.602													7	44					0	0	0	0	T	10205018	C	T	10205018	2	4	364	1	0	0	0	0	0	0	0	1	10102	680	24	4		4	MYH13	17	10205018	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2032633	10205018	70990192	1692	70621											
MYH13	8735	broad.mit.edu	37	chr17	10206584	10206584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccaggtcctggagcctaaGgatattcttgtggtcctcct	7	12	10	12	0	1	0	0	0	1	0	4	2	4	2	5	4	1	0	5	4	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10206584G>A	ENST00000418404.3	-	38	5759	c.5596C>T	c.(5596-5598)Ctt>Ttt	p.L1866F	MYH13_ENST00000570743.1_Missense_Mutation_p.L1866F|MYH13_ENST00000252172.4_Missense_Mutation_p.L1866F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1866					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGAGCCTAAGGATATTCTTG	0.577													35	152					0	0	0	0	A	10206584	G	A	10206584	3	1	364	1	0	0	0	0	1	0	0	0	10102	1000	35	4	232	4	MYH13	17	10206584	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1566	10206584	70988626	1693	70622											
MYH4	4622	broad.mit.edu	37	chr17	10354694	10354694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacaactcatttattaagcGttgttgctcttcttcctttg	7	19	6	9	1	3	1	1	1	2	0	4	1	4	1	1	0	3	3	1	0	3	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10354694G>A	ENST00000255381.2	-	28	3924	c.3814C>T	c.(3814-3816)Cgc>Tgc	p.R1272C	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1272					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTATTAAGCGTTGTTGCTCT	0.433													18	70					0	0	0	0	A	10354694	G	A	10354694	3	1	364	1	0	0	0	0	1	0	0	0	10107	1145	40	1	2057	1	MYH4	17	10354694	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	148110	10354694	70840516	1694	70623											
MYH4	4622	broad.mit.edu	37	chr17	10358389	10358389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagcaggccagctttgaaGaaaaccttatgaaagaacaa	17	6	8	10	0	0	4	0	2	0	2	0	4	0	4	3	1	4	2	3	1	7	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10358389G>A	ENST00000255381.2	-	21	2414	c.2304C>T	c.(2302-2304)ttC>ttT	p.F768F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	768	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CAGCTTTGAAGAAAACCTTAT	0.403													13	71					0	0	0	0	A	10358389	G	A	10358389	2	1	364	1	0	0	0	0	0	0	0	1	10107	933	33	2		2	MYH4	17	10358389	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3695	10358389	70836821	1695	70624											
MYH4	4622	broad.mit.edu	37	chr17	10369997	10369997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgagcttcaattcgctcCttttcagactttcggaggaa	8	15	8	10	2	3	2	2	1	1	1	6	4	4	4	1	2	1	2	1	2	2	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10369997C>T	ENST00000255381.2	-	3	176	c.66G>A	c.(64-66)aaG>aaA	p.K22K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	22	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CAATTCGCTCCTTTTCAGACT	0.493													27	104					0	0	0	0	T	10369997	C	T	10369997	2	4	364	1	0	0	0	0	0	0	0	1	10107	680	24	4		4	MYH4	17	10369997	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	11608	10369997	70825213	1696	70625											
MYH1	4619	broad.mit.edu	37	chr17	10402027	10402027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caacctcactgttggccttgGacattgctctctgtagctcg	6	13	9	13	1	2	0	1	0	1	0	4	1	2	1	2	2	3	4	2	2	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10402027G>A	ENST00000226207.5	-	30	4191	c.4097C>T	c.(4096-4098)tCc>tTc	p.S1366F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1366						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTGGCCTTGGACATTGCTCT	0.572													80	59					0	0	0	0	A	10402027	G	A	10402027	3	1	364	1	0	0	0	0	1	0	0	0	10099	1174	41	2	1766	2	MYH1	17	10402027	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	32030	10402027	70793183	1697	70626											
MYH1	4619	broad.mit.edu	37	chr17	10408289	10408289	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgtctctgcacttttgagGaggggtttgatcttgaaata	8	16	11	6	0	3	3	0	3	3	0	4	4	3	4	0	3	1	2	0	3	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10408289G>T	ENST00000226207.5	-	22	2623	c.2529C>A	c.(2527-2529)ctC>ctA	p.L843L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	843						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACTTTTGAGGAGGGGTTTGA	0.463													24	92					4.72057e-08	4.80579e-08	1	0	T	10408289	G	T	10408289	2	4	364	1	0	0	0	0	0	0	0	1	10099	1161	41	2		2	MYH1	17	10408289	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6262	10408289	70786921	1698	70627											
MYH2	4620	broad.mit.edu	37	chr17	10432160	10432160	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgcatgcttcttcctcagGgtggccgctgtggcttcatg	3	14	12	12	1	4	0	2	0	2	0	5	0	5	0	2	3	2	4	2	3	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10432160G>A	ENST00000245503.5	-	27	3975	c.3591C>T	c.(3589-3591)acC>acT	p.T1197T	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.T1197T|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1197					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTTCCTCAGGGTGGCCGCTG	0.562													26	120					0	0	0	0	A	10432160	G	A	10432160	2	1	364	1	0	0	0	0	0	0	0	1	10105	1219	43	4		4	MYH2	17	10432160	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	23871	10432160	70763050	1699	70628											
MYH2	4620	broad.mit.edu	37	chr17	10450897	10450897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcttgtcatatttgggaggGttcatggggaagacctgatc	9	13	13	6	0	3	2	2	1	1	1	4	4	3	4	1	4	0	1	1	4	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10450897G>A	ENST00000245503.5	-	4	627	c.243C>T	c.(241-243)aaC>aaT	p.N81N	MYH2_ENST00000397183.2_Silent_p.N81N|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.N81N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	81	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATTTGGGAGGGTTCATGGGGA	0.433													103	73					0	0	0	0	A	10450897	G	A	10450897	2	1	364	1	0	0	0	0	0	0	0	1	10105	1252	44	4		4	MYH2	17	10450897	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	18737	10450897	70744313	1700	70629											
MPRIP	23164	broad.mit.edu	37	chr17	17062129	17062129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaggtggaccggagccCagggctgcctatgagcgacc	8	5	16	12	2	0	1	0	1	0	0	0	5	0	4	4	5	3	1	4	5	1	1	rs146616345		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:17062129C>T	ENST00000395811.5	+	14	1948	c.1859C>T	c.(1858-1860)cCa>cTa	p.P620L	MPRIP_ENST00000341712.4_Missense_Mutation_p.P620L|MPRIP_ENST00000444976.1_Missense_Mutation_p.P582L|MPRIP_ENST00000395804.3_Missense_Mutation_p.P620L	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	620	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GACCGGAGCCCAGGGCTGCCT	0.652													33	28					0	0	0	0	T	17062129	C	T	17062129	3	4	364	1	0	0	0	0	1	0	0	0	9813	594	21	4	1913	4	MPRIP	17	17062129	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	6611232	17062129	64133081	1701	70630											
FLCN	201163	broad.mit.edu	37	chr17	17116981	17116981	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgggtcagttccgagaCtccgaggctgtggggctgcg	5	8	18	10	4	1	2	1	1	0	1	3	4	3	2	2	4	1	3	2	4	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:17116981C>T	ENST00000285071.4	-	14	2182	c.1728G>A	c.(1726-1728)gaG>gaA	p.E576E	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	576					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGTTCCGAGACTCCGAGGCTG	0.572									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				27	49					0	0	0	0	T	17116981	C	T	17116981	2	4	364	1	0	0	0	0	0	0	0	1	5966	564	20	4		4	FLCN	17	17116981	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	54852	17116981	64078229	1702	70631											
MYO15A	51168	broad.mit.edu	37	chr17	18045392	18045392	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgccttcctcctgtccttaGctgttccttaaggaacacct	6	14	7	14	0	0	0	0	0	0	0	4	1	4	1	6	1	3	2	6	1	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:18045392G>A	ENST00000205890.5	+	24	5987		c.e24-1		MYO15A_ENST00000412324.1_Splice_Site	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA						sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTGTCCTTAGCTGTTCCTTA	0.577													71	44					0	0	0	0	A	18045392	G	A	18045392	5	1	364	1	0	0	0	0	0	0	1	0	10133	985	34	4	5735	4	MYO15A	17	18045392	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	928411	18045392	63149818	1703	70632											
ZNF286B	729288	broad.mit.edu	37	chr17	18566179	18566179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatggaaggcataagatcCtttgggaactctgtcttcag	10	13	11	7	0	3	1	1	0	2	1	4	3	4	3	1	3	1	2	1	3	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:18566179C>T	ENST00000545289.1	-	5	890	c.640G>A	c.(640-642)Gga>Aga	p.G214R		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GCATAAGATCCTTTGGGAACT	0.343													21	28					0	0	0	0	T	18566179	C	T	18566179	3	4	364	1	0	0	0	0	1	0	0	0	17919	690	24	4	932	4	ZNF286B	17	18566179	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	520787	18566179	62629031	1704	70633											
EPN2	22905	broad.mit.edu	37	chr17	19235287	19235287	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggaaaacacctgagtcCttcctgggccccaacgcggc	8	5	11	17	3	0	1	0	1	0	0	2	2	2	2	6	3	2	0	6	3	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:19235287C>T	ENST00000314728.5	+	10	2017	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S	EPN2_ENST00000347697.2_Silent_p.S454S|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000575595.1_Silent_p.S219S|EPN2_ENST00000395620.2_Silent_p.S454S|EPN2_ENST00000571254.1_Silent_p.S447S|EPN2_ENST00000395618.3_Silent_p.S226S	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	511	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CACCTGAGTCCTTCCTGGGCC	0.617													13	71					0	0	0	0	T	19235287	C	T	19235287	2	4	364	1	0	0	0	0	0	0	0	1	5224	668	24	4		4	EPN2	17	19235287	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	669108	19235287	61959923	1705	70634											
B9D1	27077	broad.mit.edu	37	chr17	19247153	19247153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtctgtgtactcgggcCgccgccccatgaaccagctg	5	8	14	14	3	1	1	0	1	1	0	2	1	1	1	5	3	3	2	5	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:19247153C>T	ENST00000477478.2	-	6	682	c.349G>A	c.(349-351)Ggc>Agc	p.G117S	B9D1_ENST00000575403.1_Missense_Mutation_p.G117S|B9D1_ENST00000395615.1_Missense_Mutation_p.R141Q|B9D1_ENST00000461069.2_Missense_Mutation_p.R141Q|B9D1_ENST00000395616.3_Missense_Mutation_p.R141Q|B9D1_ENST00000261499.4_Missense_Mutation_p.R141Q			Q9UPM9	B9D1_HUMAN	B9 protein domain 1	0	B9.				cilium assembly	centrosome|microtubule basal body	protein binding			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GTACTCGGGCCGCCGCCCCAT	0.622													15	21					0	0	0	0	T	19247153	C	T	19247153	3	4	364	1	0	0	0	0	1	0	0	0	1281	652	23	1	200	1	B9D1	17	19247153	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	11866	19247153	61948057	1706	70635											
USP22	23326	broad.mit.edu	37	chr17	20911202	20911202	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgagatgaaaacaggctAcgatgggcagtttcttcata	12	12	10	7	1	2	2	1	2	1	1	2	4	2	2	0	2	2	3	0	2	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:20911202A>G	ENST00000261497.4	-	9	1414	c.1211T>C	c.(1210-1212)gTa>gCa	p.V404A	USP22_ENST00000537526.2_Missense_Mutation_p.V392A|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	404					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						AAAACAGGCTACGATGGGCAG	0.483													25	66					0	0	0	0	G	20911202	A	G	20911202	3	3	364	1	0	0	0	0	1	0	0	0	17150	391	14	5	386	5	USP22	17	20911202	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	1664049	20911202	60284008	1707	70636											
NOS2	4843	broad.mit.edu	37	chr17	26108184	26108184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgccatcactccgctgggGgaacacggtgatggccgacc	7	7	13	14	3	1	1	1	1	0	0	2	3	2	2	4	4	2	1	4	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:26108184G>A	ENST00000313735.6	-	8	975	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	248					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTCCGCTGGGGGAACACGGTG	0.617													10	53					0	0	0	0	A	26108184	G	A	26108184	3	1	364	1	0	0	0	0	1	0	0	0	10613	1232	43	4	2799	4	NOS2	17	26108184	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5196982	26108184	55087026	1708	70637											
PIGS	94005	broad.mit.edu	37	chr17	26881400	26881400	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaggagtgacgggtcaaaGaaggcaagctcagaggatgt	13	6	17	5	1	2	3	2	1	0	2	2	6	2	6	0	5	1	2	0	5	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:26881400G>A	ENST00000308360.7	-	12	1881	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	PIGS_ENST00000395346.2_Silent_p.F494F|PIGS_ENST00000543734.1_Silent_p.F441F	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	502					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					ACGGGTCAAAGAAGGCAAGCT	0.557													27	95					0	0	0	0	A	26881400	G	A	26881400	2	1	364	1	0	0	0	0	0	0	0	1	11970	933	33	2		2	PIGS	17	26881400	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	773216	26881400	54313810	1709	70638											
ALDOC	230	broad.mit.edu	37	chr17	26902186	26902186	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctggatggttcggacgaaGggaacaccattatcatcttt	10	12	10	9	2	2	0	1	0	1	0	4	4	3	3	2	4	1	1	2	4	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:26902186G>A	ENST00000226253.4	-	3	754	c.279C>T	c.(277-279)ccC>ccT	p.P93P	ALDOC_ENST00000395319.3_Silent_p.P93P|ALDOC_ENST00000395321.2_Silent_p.P93P	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	93					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					TTCGGACGAAGGGAACACCAT	0.517											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	28					0	0	0	0	A	26902186	G	A	26902186	2	1	364	1	0	0	0	0	0	0	0	1	509	987	35	4		4	ALDOC	17	26902186	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	20786	26902186	54293024	1710	70639											
SEZ6	124925	broad.mit.edu	37	chr17	27309024	27309024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctcgatgcctggggcttgtCctttccccacggttggggcc	2	11	13	15	2	0	0	0	0	0	0	3	1	2	0	6	5	1	2	6	5	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:27309024C>T	ENST00000317338.12	-	2	517	c.89G>A	c.(88-90)gGa>gAa	p.G30E	SEZ6_ENST00000442608.3_Missense_Mutation_p.G30E|SEZ6_ENST00000360295.9_Missense_Mutation_p.G30E|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.G30E			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	30						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TGGGGCTTGTCCTTTCCCCAC	0.592													6	27					0	0	0	0	T	27309024	C	T	27309024	3	4	364	1	0	0	0	0	1	0	0	0	14229	855	30	2	2972	2	SEZ6	17	27309024	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	406838	27309024	53886186	1711	70640											
EFCAB5	374786	broad.mit.edu	37	chr17	28380879	28380879	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgtcagctgcagaacAgggatcactcagagagtcag	14	6	12	9	0	4	3	4	0	0	3	4	5	4	4	0	1	3	2	0	1	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:28380879A>C	ENST00000394835.3	+	10	2099	c.1907A>C	c.(1906-1908)cAg>cCg	p.Q636P	EFCAB5_ENST00000536908.2_Missense_Mutation_p.Q580P|EFCAB5_ENST00000394832.2_Missense_Mutation_p.Q636P|EFCAB5_ENST00000320856.5_Missense_Mutation_p.Q636P|EFCAB5_ENST00000378738.3_Missense_Mutation_p.Q636P|EFCAB5_ENST00000541045.1_Missense_Mutation_p.Q293P	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	636							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCTGCAGAACAGGGATCACTC	0.443													29	96					0	0	0	0	C	28380879	A	C	28380879	3	2	364	1	0	0	0	0	1	0	0	0	4974	188	7	5	1945	5	EFCAB5	17	28380879	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	1071855	28380879	52814331	1712	70641											
CPD	1362	broad.mit.edu	37	chr17	28748832	28748832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcctggaacttacaacCttacagtagttttaactggg	10	15	8	8	0	0	0	0	0	0	0	1	1	1	1	2	2	5	3	2	2	6	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:28748832C>T	ENST00000225719.4	+	4	1364	c.1288C>T	c.(1288-1290)Ctt>Ttt	p.L430F	CPD_ENST00000543464.2_Missense_Mutation_p.L183F	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	430	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AACTTACAACCTTACAGTAGT	0.343													15	89					0	0	0	0	T	28748832	C	T	28748832	3	4	364	1	0	0	0	0	1	0	0	0	3828	681	24	4	1302	4	CPD	17	28748832	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	367953	28748832	52446378	1713	70642											
NF1	4763	broad.mit.edu	37	chr17	29548871	29548871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttaaaaaattcaggctCtgctggttcttcatcagtta	10	18	6	7	0	5	0	3	0	2	0	5	0	5	0	0	2	1	4	0	2	4	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:29548871C>T	ENST00000358273.4	+	15	2028	c.1645C>T	c.(1645-1647)Ctg>Ttg	p.L549L	NF1_ENST00000356175.3_Silent_p.L549L|NF1_ENST00000431387.4_Silent_p.L549L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	549			L -> P (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.L549fs*8(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATTCAGGCTCTGCTGGTTCT	0.308			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			25	33					0	0	0	0	T	29548871	C	T	29548871	2	4	364	1	0	0	0	0	0	0	0	1	10426	912	32	2		2	NF1	17	29548871	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	800039	29548871	51646339	1714	70643											
LIG3	3980	broad.mit.edu	37	chr17	33321400	33321400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggtgcataagaatggaGaccacttcagctacttcagc	12	9	9	11	0	2	2	2	0	0	2	3	3	3	2	2	2	4	2	2	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:33321400G>A	ENST00000378526.4	+	9	1694	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	LIG3_ENST00000262327.5_Missense_Mutation_p.D521N	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	521					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TAAGAATGGAGACCACTTCAG	0.517								Other BER factors					17	74					0	0	0	0	A	33321400	G	A	33321400	3	1	364	1	0	0	0	0	1	0	0	0	8836	942	33	2	1591	2	LIG3	17	33321400	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3772529	33321400	47873810	1715	70644											
SLFN11	91607	broad.mit.edu	37	chr17	33679468	33679468	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagatagctgggtcagctgtCcttggatggatcccaaacac	11	9	11	10	0	1	1	1	0	0	1	3	3	3	3	2	3	3	2	2	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:33679468C>T	ENST00000394566.1	-	7	2885	c.2613G>A	c.(2611-2613)agG>agA	p.R871R	SLFN11_ENST00000308377.4_Silent_p.R871R	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	871						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTCAGCTGTCCTTGGATGGA	0.483													38	169					0	0	0	0	T	33679468	C	T	33679468	2	4	364	1	0	0	0	0	0	0	0	1	14821	854	30	2		2	SLFN11	17	33679468	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	358068	33679468	47515742	1716	70645											
TADA2A	6871	broad.mit.edu	37	chr17	35783695	35783695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgctgaatgtgggccacctCcttttttcctctgcttgcag	4	15	10	12	0	1	1	0	1	1	0	3	1	3	1	4	1	3	3	4	1	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:35783695C>T	ENST00000394395.2	+	3	285	c.112C>T	c.(112-114)Cct>Tct	p.P38S	TADA2A_ENST00000586023.1_Missense_Mutation_p.P38S|TADA2A_ENST00000417170.1_Missense_Mutation_p.P38S|TADA2A_ENST00000225396.6_Missense_Mutation_p.P38S	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	38	Cys-rich.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TGGGCCACCTCCTTTTTTCCT	0.443													34	124					0	0	0	0	T	35783695	C	T	35783695	3	4	364	1	0	0	0	0	1	0	0	0	15601	855	30	2	118	2	TADA2A	17	35783695	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2104227	35783695	45411515	1717	70646											
MLLT6	4302	broad.mit.edu	37	chr17	36876005	36876005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggttccctctggccgcaggtCccccatcagcagcctccccg	4	7	10	20	2	2	0	1	0	1	0	5	0	5	0	7	3	2	3	7	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:36876005C>T	ENST00000325718.7	+	14	2103	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	671					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGCCGCAGGTCCCCCATCAGC	0.682			T	MLL	AL								4	27					0	0	0	0	T	36876005	C	T	36876005	3	4	364	1	0	0	0	0	1	0	0	0	9699	855	30	2	2066	2	MLLT6	17	36876005	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1092310	36876005	44319205	1718	70647											
MED1	5469	broad.mit.edu	37	chr17	37564132	37564132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtgacttactatggctggGagagccacgctcatgctttg	7	12	13	9	1	1	2	1	1	0	1	1	3	1	2	1	3	3	3	1	3	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:37564132G>A	ENST00000300651.6	-	17	4565	c.4342C>T	c.(4342-4344)Ccc>Tcc	p.P1448S	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1448	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.P1448A(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTATGGCTGGGAGAGCCACGC	0.488										HNSCC(31;0.082)			21	69					0	0	0	0	A	37564132	G	A	37564132	3	1	364	1	0	0	0	0	1	0	0	0	9494	1174	41	2	407	2	MED1	17	37564132	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	688127	37564132	43631078	1719	70648											
MED1	5469	broad.mit.edu	37	chr17	37565007	37565007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccatgcttggttatgggaGaggagcctggcttcccccca	6	10	13	12	0	0	1	0	0	0	1	2	3	2	2	5	4	2	3	5	4	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:37565007G>A	ENST00000300651.6	-	17	3690	c.3467C>T	c.(3466-3468)tCt>tTt	p.S1156F	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1156	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGTTATGGGAGAGGAGCCTGG	0.468										HNSCC(31;0.082)			13	45					0	0	0	0	A	37565007	G	A	37565007	3	1	364	1	0	0	0	0	1	0	0	0	9494	942	33	2	1282	2	MED1	17	37565007	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	875	37565007	43630203	1720	70649											
PSMD3	5709	broad.mit.edu	37	chr17	38145046	38145046	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacgcccgggtctatgagttCctggacaagctggatgtggt	7	10	14	10	2	1	1	0	1	1	0	2	3	2	3	2	4	1	2	2	4	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:38145046C>T	ENST00000264639.4	+	4	834	c.660C>T	c.(658-660)ttC>ttT	p.F220F	PSMD3_ENST00000541736.1_Silent_p.F82F	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TCTATGAGTTCCTGGACAAGC	0.547													18	120					0	0	0	0	T	38145046	C	T	38145046	2	4	364	1	0	0	0	0	0	0	0	1	12778	854	30	2		2	PSMD3	17	38145046	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	580039	38145046	43050164	1721	70650											
KRT39	390792	broad.mit.edu	37	chr17	39114919	39114933	+	In_Frame_Del	DEL	ATCCTTAATCTCCTT	ATCCTTAATCTCCTT	-																															taagaagaaatgaccttcccAtccttaatctccttggtgat																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39114919_39114933delATCCTTAATCTCCTT	ENST00000355612.2	-	7	1431_1445	c.1396_1410delAAGGAGATTAAGGAT	c.(1396-1410)del	p.KEIKD466del	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	466	Tail.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TGACCTTCCCATCCTTAATCTCCTTGGTGATGGTG	0.498													40	98	---	---	---	---					-	39114933	ATCCTTAATCTCCTT	-	39114919	7	5	364	1	0	1	0	1	0	0	0	0	8528	214	8	0	69	0	KRT39	17	39114919	In_Frame_Del	DEL	ATCCTTAATCTCCTT	TCGA-D6-6516-01A-11D-1870-08	969873	39114919	42080291	1722	70651											
KRT40	125115	broad.mit.edu	37	chr17	39138698	39138698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctctaacagctggcgaaggGacagttcactctcgtacctt	9	10	9	13	2	3	0	1	0	2	0	4	2	3	1	2	2	3	3	2	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39138698G>A	ENST00000377755.4	-	3	582	c.548C>T	c.(547-549)tCc>tTc	p.S183F	KRT40_ENST00000398486.2_Missense_Mutation_p.S183F			Q6A162	K1C40_HUMAN	keratin 40	183	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CTGGCGAAGGGACAGTTCACT	0.527													15	78					0	0	0	0	A	39138698	G	A	39138698	3	1	364	1	0	0	0	0	1	0	0	0	8530	1174	41	2	767	2	KRT40	17	39138698	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	23779	39138698	42056512	1723	70652											
KRT40	125115	broad.mit.edu	37	chr17	39140175	39140175	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttggatcctggattcCagctctgcgttggtctcctc	3	16	10	12	1	3	0	0	0	3	0	7	2	5	2	3	3	2	3	3	3	0	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39140175C>T	ENST00000377755.4	-	1	385	c.351G>A	c.(349-351)ctG>ctA	p.L117L	KRT40_ENST00000398486.2_Silent_p.L117L			Q6A162	K1C40_HUMAN	keratin 40	117	Coil 1A.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TCCTGGATTCCAGCTCTGCGT	0.493													49	159					0	0	0	0	T	39140175	C	T	39140175	2	4	364	1	0	0	0	0	0	0	0	1	8530	581	21	4		4	KRT40	17	39140175	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1477	39140175	42055035	1724	70653											
KRT38	8687	broad.mit.edu	37	chr17	39596777	39596777	+	Missense_Mutation	SNP	C	C	T																															cctctcgaggagtgtggcctCcagctccgcattctcctgct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39596777C>T	ENST00000246646.3	-	1	396	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	133	Coil 1A.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AGTGTGGCCTCCAGCTCCGCA	0.592													18	101					0	0	0	0	T	39596777	C	T	39596777	3	4	364	1	0	0	0	0	1	0	0	0	8527	864	30	2	1001	2	KRT38	17	39596777	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	456602	39596777	41598433	1725	70654	953	2									
KRT38	8687	broad.mit.edu	37	chr17	39596778	39596778	+	Silent	SNP	C	C	T																															ctctcgaggagtgtggcctcCagctccgcattctcctgctc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39596778C>T	ENST00000246646.3	-	1	395	c.396G>A	c.(394-396)ctG>ctA	p.L132L		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	132	Coil 1A.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GTGTGGCCTCCAGCTCCGCAT	0.592													18	100					0	0	0	0	T	39596778	C	T	39596778	2	4	364	1	0	0	0	0	0	0	0	1	8527	581	21	4		4	KRT38	17	39596778	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	39596778	41598432	1726	70655	953	2									
KRT9	3857	broad.mit.edu	37	chr17	39724598	39724598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctggccacagtagcGgttcttcgtgtcttccaagc	6	11	11	13	2	2	0	0	0	2	0	4	0	3	0	2	2	4	4	2	2	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39724598G>A	ENST00000246662.4	-	6	1275	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	KRT9_ENST00000588431.1_Missense_Mutation_p.R171C	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	404	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCACAGTAGCGGTTCTTCGTG	0.507													14	86					0	0	0	0	A	39724598	G	A	39724598	3	1	364	1	0	0	0	0	1	0	0	0	8553	1116	39	1	669	1	KRT9	17	39724598	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	127820	39724598	41470612	1727	70656											
KRT14	3861	broad.mit.edu	37	chr17	39740157	39740157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctccacccacctggcctCtcagggcattcatctcctgc	6	10	6	19	0	4	0	2	0	3	0	7	0	4	0	5	2	1	1	5	2	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39740157C>T	ENST00000167586.6	-	4	868	c.782G>A	c.(781-783)aGa>aAa	p.R261K		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	261	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CACCTGGCCTCTCAGGGCATT	0.572													12	41					0	0	0	0	T	39740157	C	T	39740157	3	4	364	1	0	0	0	0	1	0	0	0	8503	913	32	2	656	2	KRT14	17	39740157	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	15559	39740157	41455053	1728	70657											
KRT14	3861	broad.mit.edu	37	chr17	39740512	39740512	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatatagttctcacctcCtcgtggttcttcttcaggta	6	17	6	12	1	4	0	2	0	3	0	8	0	6	0	3	2	0	3	3	2	3	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39740512C>T	ENST00000167586.6	-	3	848	c.762G>A	c.(760-762)gaG>gaA	p.E254E		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	254	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TTCTCACCTCCTCGTGGTTCT	0.552													14	126					0	0	0	0	T	39740512	C	T	39740512	2	4	364	1	0	0	0	0	0	0	0	1	8503	680	24	4		4	KRT14	17	39740512	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	355	39740512	41454698	1729	70658											
KRT14	3861	broad.mit.edu	37	chr17	39740538	39740538	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcttcttcaggtaggccaGctcctccttcaggctctcaa	6	13	8	14	0	5	0	3	0	3	0	8	0	7	0	3	3	1	4	3	3	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39740538G>A	ENST00000167586.6	-	3	822	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	246	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				AGGTAGGCCAGCTCCTCCTTC	0.552													28	121					0	0	0	0	A	39740538	G	A	39740538	2	1	364	1	0	0	0	0	0	0	0	1	8503	962	34	4		4	KRT14	17	39740538	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	26	39740538	41454672	1730	70659											
GHDC	84514	broad.mit.edu	37	chr17	40344298	40344298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagagaagaaggctagtcCttggcaccacaaggccccga	13	4	13	11	1	0	2	0	0	0	2	1	5	1	3	4	4	0	2	4	4	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40344298C>T	ENST00000301671.8	-	4	1291	c.850G>A	c.(850-852)Gga>Aga	p.G284R	GHDC_ENST00000414034.3_Missense_Mutation_p.G284R|GHDC_ENST00000593209.1_Missense_Mutation_p.G284R|GHDC_ENST00000436923.2_Missense_Mutation_p.G284R|GHDC_ENST00000587427.1_Missense_Mutation_p.G284R|GHDC_ENST00000428494.2_Missense_Mutation_p.G245R			Q8N2G8	GHDC_HUMAN	GH3 domain containing	284						endoplasmic reticulum|nuclear envelope		p.G284R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AAGGCTAGTCCTTGGCACCAC	0.632													20	130					0	0	0	0	T	40344298	C	T	40344298	3	4	364	1	0	0	0	0	1	0	0	0	6420	690	24	4	855	4	GHDC	17	40344298	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	603760	40344298	40850912	1731	70660											
PTRF	284119	broad.mit.edu	37	chr17	40556780	40556780	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagcgcgtgcacgtcgggGctgctcccgcgccgcaggtc	4	5	16	16	7	0	0	0	0	0	0	3	0	1	0	2	3	4	5	2	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40556780G>A	ENST00000357037.5	-	2	1517	c.1098C>T	c.(1096-1098)agC>agT	p.S366S		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	366					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GCACGTCGGGGCTGCTCCCGC	0.736													4	9					0	0	0	0	A	40556780	G	A	40556780	2	1	364	1	0	0	0	0	0	0	0	1	12897	1194	42	4		4	PTRF	17	40556780	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	212482	40556780	40638430	1732	70661											
TUBG1	7283	broad.mit.edu	37	chr17	40765002	40765002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcagacatactcagtgtttCccaaccaggacgagatgagc	12	8	10	11	1	1	3	1	1	0	2	2	5	2	4	2	1	4	2	2	1	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40765002C>T	ENST00000251413.3	+	6	579	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	173					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CTCAGTGTTTCCCAACCAGGA	0.557													19	95					0	0	0	0	T	40765002	C	T	40765002	3	4	364	1	0	0	0	0	1	0	0	0	16860	855	30	2	539	2	TUBG1	17	40765002	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	208222	40765002	40430208	1733	70662											
CCR10	2826	broad.mit.edu	37	chr17	40832611	40832611	+	Missense_Mutation	SNP	C	C	T																															cgagtatgcgtcctcttcatCcccagagtaatggccccagg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40832611C>T	ENST00000332438.4	-	2	68	c.49G>A	c.(49-51)Gat>Aat	p.D17N	CCR10_ENST00000591765.1_5'UTR|CTD-3193K9.4_ENST00000593139.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	17						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCCTCTTCATCCCCAGAGTAA	0.592													6	31					0	0	0	0	T	40832611	C	T	40832611	3	4	364	1	0	0	0	0	1	0	0	0	2969	855	30	2	1043	2	CCR10	17	40832611	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	67609	40832611	40362599	1734	70663	954	2									
CCR10	2826	broad.mit.edu	37	chr17	40832612	40832612	+	Silent	SNP	C	C	T																															gagtatgcgtcctcttcatcCccagagtaatggccccagga																								rs138478451		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40832612C>T	ENST00000332438.4	-	2	67	c.48G>A	c.(46-48)ggG>ggA	p.G16G	CCR10_ENST00000591765.1_5'UTR|CTD-3193K9.4_ENST00000593139.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	16						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CCTCTTCATCCCCAGAGTAAT	0.592													5	31					0	0	0	0	T	40832612	C	T	40832612	2	4	364	1	0	0	0	0	0	0	0	1	2969	610	22	4		4	CCR10	17	40832612	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	40832612	40362598	1735	70664	954	2									
WNK4	65266	broad.mit.edu	37	chr17	40945659	40945659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgagatggatttctcagacGgattcgggagattatccagc	10	10	13	8	3	1	3	1	0	1	3	4	7	2	5	1	3	1	0	1	3	1	3	rs149389156	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40945659G>A	ENST00000246914.5	+	12	2228	c.2207G>A	c.(2206-2208)cGg>cAg	p.R736Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	736					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTTCTCAGACGGATTCGGGAG	0.542													15	61					0	0	0	0	A	40945659	G	A	40945659	3	1	364	1	0	0	0	0	1	0	0	0	17476	1116	39	1	2253	1	WNK4	17	40945659	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	113047	40945659	40249551	1736	70665											
AOC2	314	broad.mit.edu	37	chr17	41001235	41001235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaggacctgacagctttttCcttgggaagccccctacccc	7	9	10	15	0	0	1	0	1	0	0	1	4	1	4	6	3	3	1	6	3	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:41001235C>T	ENST00000253799.3	+	2	1748	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	AOC2_ENST00000452774.2_Missense_Mutation_p.S574F	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	574					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACAGCTTTTTCCTTGGGAAGC	0.612													22	42					0	0	0	0	T	41001235	C	T	41001235	3	4	364	1	0	0	0	0	1	0	0	0	728	855	30	2	1727	2	AOC2	17	41001235	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	55576	41001235	40193975	1737	70666											
VAT1	10493	broad.mit.edu	37	chr17	41170069	41170069	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacctttaggggaaatcttCttgatctcatccacgtagtc	9	13	7	12	1	3	1	1	1	3	0	6	2	4	2	3	2	0	1	3	2	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:41170069C>T	ENST00000355653.3	-	3	845	c.750G>A	c.(748-750)aaG>aaA	p.K250K	VAT1_ENST00000587173.1_Silent_p.K182K|VAT1_ENST00000420567.3_Silent_p.K116K	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	250						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGGAAATCTTCTTGATCTCAT	0.547													23	73					0	0	0	0	T	41170069	C	T	41170069	2	4	364	1	0	0	0	0	0	0	0	1	17225	912	32	2		2	VAT1	17	41170069	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	168834	41170069	40025141	1738	70667											
ETV4	2118	broad.mit.edu	37	chr17	41605896	41605896	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgggggctagtaagaGtagccacccttggggccaaa	9	6	15	11	1	0	1	0	0	0	1	0	1	0	1	4	4	1	4	4	4	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:41605896G>A	ENST00000319349.5	-	13	1744	c.1446C>T	c.(1444-1446)taC>taT	p.Y482Y	ETV4_ENST00000545089.1_Silent_p.Y428Y|ETV4_ENST00000591713.1_Silent_p.Y482Y|ETV4_ENST00000586826.1_Silent_p.Y205Y|ETV4_ENST00000393664.2_Silent_p.Y482Y|ETV4_ENST00000545954.1_Silent_p.Y443Y|ETV4_ENST00000538265.1_Silent_p.Y443Y	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	482					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCTAGTAAGAGTAGCCACCCT	0.602			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"								8	24					0	0	0	0	A	41605896	G	A	41605896	2	1	364	1	0	0	0	0	0	0	0	1	5319	1024	36	4		4	ETV4	17	41605896	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	435827	41605896	39589314	1739	70668											
ASB16	92591	broad.mit.edu	37	chr17	42248418	42248418	+	Silent	SNP	G	G	A																															gaggccgccaacatgattgtGgagactgtgagcaaccagct																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:42248418G>A	ENST00000293414.1	+	1	345	c.261G>A	c.(259-261)gtG>gtA	p.V87V		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	87					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ACATGATTGTGGAGACTGTGA	0.607													4	45					0	0	0	0	A	42248418	G	A	42248418	2	1	364	1	0	0	0	0	0	0	0	1	1024	1335	47	4		4	ASB16	17	42248418	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	642522	42248418	38946792	1740	70669	955	2									
ASB16	92591	broad.mit.edu	37	chr17	42248419	42248419	+	Missense_Mutation	SNP	G	G	A																															aggccgccaacatgattgtgGagactgtgagcaaccagctg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:42248419G>A	ENST00000293414.1	+	1	346	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	88					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CATGATTGTGGAGACTGTGAG	0.607													4	46					0	0	0	0	A	42248419	G	A	42248419	3	1	364	1	0	0	0	0	1	0	0	0	1024	1175	41	2	264	2	ASB16	17	42248419	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	42248419	38946791	1741	70670	955	2									
CDC27	996	broad.mit.edu	37	chr17	45234385	45234385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaagttcctgttcccagtgGgacagtatcaggtgaaatta	11	11	12	7	0	1	1	1	1	0	0	3	3	3	3	2	3	0	3	2	3	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:45234385G>A	ENST00000066544.3	-	7	829	c.736C>T	c.(736-738)Cca>Tca	p.P246S	CDC27_ENST00000446365.2_Missense_Mutation_p.P185S|CDC27_ENST00000527547.1_Missense_Mutation_p.P246S|CDC27_ENST00000531206.1_Missense_Mutation_p.P246S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	246					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTTCCCAGTGGGACAGTATCA	0.363													7	72					0	0	0	0	A	45234385	G	A	45234385	3	1	364	1	0	0	0	0	1	0	0	0	3095	1232	43	4	1808	4	CDC27	17	45234385	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2985966	45234385	35960825	1742	70671											
ITGB3	3690	broad.mit.edu	37	chr17	45368447	45368447	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgtatgggactcaagattgGagacacggtgaggtgggctg	9	10	17	5	1	1	3	1	1	0	2	1	5	1	4	0	5	0	2	0	5	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:45368447G>A	ENST00000560629.1	+	9	1218	c.1218G>A	c.(1216-1218)tgG>tgA	p.W406*	ITGB3_ENST00000435993.2_Missense_Mutation_p.G371E|ITGB3_ENST00000571680.1_Missense_Mutation_p.G418E|ITGB3_ENST00000559488.1_Missense_Mutation_p.G418E			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CTCAAGATTGGAGACACGGTG	0.542													19	60					0	0	0	0	A	45368447	G	A	45368447	4	1	364	1	0	0	0	0	0	1	0	0	7948	1174	41	2	1287	2	ITGB3	17	45368447	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	134062	45368447	35826763	1743	70672											
FAM117A	81558	broad.mit.edu	37	chr17	47797715	47797715	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctccccgcactgcgtggtcCcctaggagtggtgaacctcg	5	8	13	15	3	0	1	0	1	0	0	3	2	2	2	5	3	2	2	5	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:47797715C>T	ENST00000240364.2	-	4	625	c.546G>A	c.(544-546)ggG>ggA	p.G182G	FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	182										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CTGCGTGGTCCCCTAGGAGTG	0.582													38	64					0	0	0	0	T	47797715	C	T	47797715	2	4	364	1	0	0	0	0	0	0	0	1	5450	610	22	4		4	FAM117A	17	47797715	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2429268	47797715	33397495	1744	70673											
FAM117A	81558	broad.mit.edu	37	chr17	47841404	47841404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccggcccctccgcgccccgGcccccaggcacctccgcctc	2	3	9	27	5	0	0	0	0	0	0	3	0	2	0	11	3	0	1	11	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:47841404G>A	ENST00000240364.2	-	1	125	c.46C>T	c.(46-48)Ccg>Tcg	p.P16S	FAM117A_ENST00000514018.1_Intron|FAM117A_ENST00000513602.1_Intron	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	16										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						ccgcgccccggcccccaggca	0.806													3	2					0	0	0	0	A	47841404	G	A	47841404	3	1	364	1	0	0	0	0	1	0	0	0	5450	1203	42	4	1347	4	FAM117A	17	47841404	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	43689	47841404	33353806	1745	70674											
SGCA	6442	broad.mit.edu	37	chr17	48252743	48252743	+	Missense_Mutation	SNP	G	G	A																															caatgtgcacacaggtgagcGgctgcctccccgcgtggaca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:48252743G>A	ENST00000262018.3	+	9	1145	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	HILS1_ENST00000504307.1_RNA|SGCA_ENST00000543315.1_Missense_Mutation_p.R246Q|SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000344627.6_Missense_Mutation_p.R246Q	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	370					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						ACAGGTGAGCGGCTGCCTCCC	0.647													5	22					0	0	0	0	A	48252743	G	A	48252743	3	1	364	1	0	0	0	0	1	0	0	0	14286	1116	39	1	1143	1	SGCA	17	48252743	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	411339	48252743	32942467	1746	70675	956	2									
SGCA	6442	broad.mit.edu	37	chr17	48252744	48252744	+	Silent	SNP	G	G	A																															aatgtgcacacaggtgagcgGctgcctccccgcgtggacag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:48252744G>A	ENST00000262018.3	+	9	1146	c.1110G>A	c.(1108-1110)cgG>cgA	p.R370R	HILS1_ENST00000504307.1_RNA|SGCA_ENST00000543315.1_Silent_p.R246R|SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000344627.6_Silent_p.R246R	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	370					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CAGGTGAGCGGCTGCCTCCCC	0.652													5	22					0	0	0	0	A	48252744	G	A	48252744	2	1	364	1	0	0	0	0	0	0	0	1	14286	1190	42	4		4	SGCA	17	48252744	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	48252744	32942466	1747	70676	956	2									
TMEM92	162461	broad.mit.edu	37	chr17	48356592	48356592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgggcccaactcccacaGagccaccccctccctacagc	8	4	7	22	0	0	1	0	0	0	1	2	1	2	1	7	1	4	0	7	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:48356592G>A	ENST00000300433.3	+	6	513	c.403G>A	c.(403-405)Gag>Aag	p.E135K	TMEM92_ENST00000507382.1_Missense_Mutation_p.E135K	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	135	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						AACTCCCACAGAGCCACCCCC	0.597													31	197					0	0	0	0	A	48356592	G	A	48356592	3	1	364	1	0	0	0	0	1	0	0	0	16315	943	33	2	421	2	TMEM92	17	48356592	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	103848	48356592	32838618	1748	70677											
CACNA1G	8913	broad.mit.edu	37	chr17	48669144	48669144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaagtttgcctctgagcGggatggggacaccctgccag	7	8	14	12	1	1	1	0	1	1	0	1	3	1	3	3	3	4	2	3	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:48669144G>A	ENST00000352832.5	+	12	3056	c.2684G>A	c.(2683-2685)cGg>cAg	p.R895Q	CACNA1G_ENST00000359106.5_Missense_Mutation_p.R895Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R895Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R895Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R895Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R895Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R895Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R895Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R895Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R895Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R895Q	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	895					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCTCTGAGCGGGATGGGGAC	0.602													10	37					0	0	0	0	A	48669144	G	A	48669144	3	1	364	1	0	0	0	0	1	0	0	0	2569	1116	39	1	2730	1	CACNA1G	17	48669144	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	312552	48669144	32526066	1749	70678											
SPAG9	9043	broad.mit.edu	37	chr17	49098644	49098644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttaagggagtatcagtaGgaattgttgccacatctgaa	12	12	10	7	0	2	1	1	1	1	0	2	3	2	3	2	2	1	3	2	2	5	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:49098644G>A	ENST00000262013.7	-	7	1074	c.866C>T	c.(865-867)cCt>cTt	p.P289L	SPAG9_ENST00000357122.4_Missense_Mutation_p.P275L|SPAG9_ENST00000510283.1_Missense_Mutation_p.P132L|SPAG9_ENST00000505279.1_Missense_Mutation_p.P275L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	289					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AGTATCAGTAGGAATTGTTGC	0.393													31	138					0	0	0	0	A	49098644	G	A	49098644	3	1	364	1	0	0	0	0	1	0	0	0	15075	1000	35	4	3195	4	SPAG9	17	49098644	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	429500	49098644	32096566	1750	70679											
KIF2B	84643	broad.mit.edu	37	chr17	51901498	51901498	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaaggtgtatgatttgttGaactggaagaagaagctgca	13	10	14	4	0	0	4	0	2	0	2	0	5	0	5	0	3	3	5	0	3	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:51901498G>A	ENST00000268919.4	+	1	1260	c.1104G>A	c.(1102-1104)ttG>ttA	p.L368L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	368	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATGATTTGTTGAACTGGAAGA	0.463													13	85					0	0	0	0	A	51901498	G	A	51901498	2	1	364	1	0	0	0	0	0	0	0	1	8349	1281	45	2		2	KIF2B	17	51901498	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2802854	51901498	29293712	1751	70680											
AKAP1	8165	broad.mit.edu	37	chr17	55184035	55184035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttgggcccagacactgcgGagcctgccacagcagaggca	9	5	13	14	1	1	2	0	0	1	2	1	3	1	3	3	3	4	2	3	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:55184035G>A	ENST00000337714.3	+	2	1443	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	AKAP1_ENST00000571629.1_Missense_Mutation_p.E404K|AKAP1_ENST00000314126.3_Missense_Mutation_p.E404K|AKAP1_ENST00000539273.1_Missense_Mutation_p.E404K|AKAP1_ENST00000572557.1_Missense_Mutation_p.E404K	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	404					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGACACTGCGGAGCCTGCCAC	0.622													11	64					0	0	0	0	A	55184035	G	A	55184035	3	1	364	1	0	0	0	0	1	0	0	0	445	1175	41	2	1212	2	AKAP1	17	55184035	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3282537	55184035	26011175	1752	70681											
EPX	8288	broad.mit.edu	37	chr17	56274318	56274318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcccacccaatgaccccCgcatcaagaaccagcgtgac	13	4	7	17	2	1	4	1	2	0	2	2	4	2	4	5	0	2	1	5	0	3	0	rs138263557		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56274318C>T	ENST00000225371.5	+	7	930	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	274					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CAATGACCCCCGCATCAAGAA	0.562													21	68					0	0	0	0	T	56274318	C	T	56274318	3	4	364	1	0	0	0	0	1	0	0	0	5238	652	23	1	846	1	EPX	17	56274318	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1090283	56274318	24920892	1753	70682											
EPX	8288	broad.mit.edu	37	chr17	56280672	56280672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcagaagagcccgagacGgagacaggtaagtgacccta	14	5	13	9	2	1	5	1	1	0	4	1	7	1	5	2	2	1	2	2	2	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56280672G>A	ENST00000225371.5	+	11	2049	c.1939G>A	c.(1939-1941)Gga>Aga	p.G647R		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	647				RDGDRFWWQKRGVFTK -> ETETGSGGRTRCFHQ (in Ref. 3; AA sequence).	hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						AGCCCGAGACGGAGACAGGTA	0.507													22	39					0	0	0	0	A	56280672	G	A	56280672	3	1	364	1	0	0	0	0	1	0	0	0	5238	1117	39	1	1981	1	EPX	17	56280672	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6354	56280672	24914538	1754	70683											
MKS1	54903	broad.mit.edu	37	chr17	56285488	56285488	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagattcatcctcatggagGaagaaggcttcaaacgtgaa	15	8	11	7	1	3	3	3	1	0	2	4	6	4	5	1	3	1	1	1	3	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56285488G>A	ENST00000393119.2	-	13	1217	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	MKS1_ENST00000313863.6_Silent_p.F381F|MKS1_ENST00000537529.2_Silent_p.F371F|MKS1_ENST00000546108.1_Silent_p.F178F|MKS1_ENST00000337050.7_Silent_p.F381F	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	381	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCATGGAGGAAGAAGGCTT	0.527													10	51					0	0	0	0	A	56285488	G	A	56285488	2	1	364	1	0	0	0	0	0	0	0	1	9678	1165	41	2		2	MKS1	17	56285488	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4816	56285488	24909722	1755	70684											
RNF43	54894	broad.mit.edu	37	chr17	56435132	56435132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcacagttgcatcctgggGccgagagccaggggtgggct	6	7	18	10	1	0	1	0	0	0	1	1	2	1	1	3	5	3	4	3	5	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56435132G>A	ENST00000584437.1	-	8	3960	c.2005C>T	c.(2005-2007)Ccc>Tcc	p.P669S	RNF43_ENST00000577716.1_Missense_Mutation_p.P669S|RNF43_ENST00000500597.2_Missense_Mutation_p.P628S|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.P628S|RNF43_ENST00000407977.2_Missense_Mutation_p.P669S|RNF43_ENST00000577625.1_Missense_Mutation_p.P542S|RNF43_ENST00000581868.1_Missense_Mutation_p.P542S			Q68DV7	RNF43_HUMAN	ring finger protein 43	669	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCATCCTGGGGCCGAGAGCCA	0.597													33	163					0	0	0	0	A	56435132	G	A	56435132	3	1	364	1	0	0	0	0	1	0	0	0	13580	1203	42	4	354	4	RNF43	17	56435132	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	149644	56435132	24760078	1756	70685											
C17orf47	284083	broad.mit.edu	37	chr17	56620991	56620991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcctacggggaactctgactCcttgggggttctggaccttg	5	12	13	11	1	2	1	0	1	2	0	4	3	4	3	3	5	2	1	3	5	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56620991C>T	ENST00000321691.3	-	1	738	c.557G>A	c.(556-558)gGa>gAa	p.G186E	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	186										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACTCTGACTCCTTGGGGGTT	0.433													33	154					0	0	0	0	T	56620991	C	T	56620991	3	4	364	1	0	0	0	0	1	0	0	0	1873	855	30	2	1163	2	C17orf47	17	56620991	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	185859	56620991	24574219	1757	70686											
TEX14	56155	broad.mit.edu	37	chr17	56664947	56664947	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttatactcacttttcCattttaagtgtacctttcca	9	19	3	10	0	1	1	1	1	0	0	3	1	3	1	3	0	2	1	3	0	4	9			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56664947C>T	ENST00000389934.3	-	17	2900	c.2783G>A	c.(2782-2784)tGg>tAg	p.W928*	TEX14_ENST00000240361.8_Nonsense_Mutation_p.W934*|TEX14_ENST00000349033.5_Nonsense_Mutation_p.W928*	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	934						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCACTTTTCCATTTTAAGTG	0.328											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	31					0	0	0	0	T	56664947	C	T	56664947	4	4	364	1	0	0	0	0	0	1	0	0	15872	595	21	4	1760	4	TEX14	17	56664947	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	43956	56664947	24530263	1758	70687											
HEATR6	63897	broad.mit.edu	37	chr17	58143574	58143574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttaaattctcttacctttGgagaagggtctttcaatgta	10	17	8	6	0	3	1	1	0	2	1	4	2	3	1	1	2	1	2	1	2	6	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58143574G>A	ENST00000184956.6	-	9	1428	c.1412C>T	c.(1411-1413)cCa>cTa	p.P471L	HEATR6_ENST00000585976.1_Missense_Mutation_p.P471L	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	471							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TCTTACCTTTGGAGAAGGGTC	0.383													41	39					0	0	0	0	A	58143574	G	A	58143574	3	1	364	1	0	0	0	0	1	0	0	0	7083	1348	47	4	2181	4	HEATR6	17	58143574	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1478627	58143574	23051636	1759	70688											
CA4	762	broad.mit.edu	37	chr17	58235145	58235145	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggtgctggcctttctggTggaggtgggactcccatccc	3	11	15	12	1	1	0	0	0	1	0	3	2	3	2	3	6	2	1	3	6	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58235145T>G	ENST00000300900.4	+	5	608	c.509T>G	c.(508-510)gTg>gGg	p.V170G		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	170					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCCTTTCTGGTGGAGGTGGGA	0.587													5	35					0	0	0	0	G	58235145	T	G	58235145	3	3	364	1	0	0	0	0	1	0	0	0	2543	1696	59	5	527	5	CA4	17	58235145	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	91571	58235145	22960065	1760	70689											
APPBP2	10513	broad.mit.edu	37	chr17	58539249	58539249	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctagcagtgtatcagaataTtttgggtgtttggatccaaa	11	15	10	5	0	2	1	1	0	1	1	3	2	3	2	1	2	1	3	1	2	5	6	rs144286983		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58539249T>A	ENST00000083182.3	-	8	1145	c.858A>T	c.(856-858)aaA>aaT	p.K286N	APPBP2_ENST00000592995.1_5'UTR	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	286					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TATCAGAATATTTTGGGTGTT	0.284													66	165					0	0	0	0	A	58539249	T	A	58539249	3	1	364	1	0	0	0	0	1	0	0	0	818	1490	52	5	923	5	APPBP2	17	58539249	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	304104	58539249	22655961	1761	70690											
PPM1D	8493	broad.mit.edu	37	chr17	58740467	58740467	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtttcagctgagatagctCgagagaatgtccaaggtgta	12	10	13	6	1	1	2	1	1	0	2	3	5	2	2	1	2	2	4	1	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58740467C>T	ENST00000305921.3	+	6	1604	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	458					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TGAGATAGCTCGAGAGAATGT	0.433											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	17	71					0	0	0	0	T	58740467	C	T	58740467	4	4	364	1	0	0	0	0	0	1	0	0	12413	876	31	1	1394	1	PPM1D	17	58740467	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	201218	58740467	22454743	1762	70691											
ACE	1636	broad.mit.edu	37	chr17	61574518	61574518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgctcagaagggcccctcCcagacagcggccgcgtcagc	7	4	12	18	4	2	2	2	0	0	2	4	2	3	2	4	2	2	1	4	2	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:61574518C>T	ENST00000290866.4	+	25	3736	c.3712C>T	c.(3712-3714)Cca>Tca	p.P1238S	ACE_ENST00000413513.3_Missense_Mutation_p.P623S|ACE_ENST00000490216.2_Intron|ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_Missense_Mutation_p.P443S|ACE_ENST00000290863.6_Missense_Mutation_p.P664S|ACE_ENST00000577647.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1238					arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGGGCCCCTCCCAGACAGCGG	0.716													7	20					0	0	0	0	T	61574518	C	T	61574518	3	4	364	1	0	0	0	0	1	0	0	0	136	623	22	4	4013	4	ACE	17	61574518	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2834051	61574518	19620692	1763	70692											
GH2	2689	broad.mit.edu	37	chr17	61957743	61957743	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggaatgtctcgacctTgtccatgtccttcctgaagc	7	11	10	13	2	1	1	0	1	1	0	5	3	4	2	4	1	1	1	4	1	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:61957743T>G	ENST00000423893.2	-	5	653	c.592A>C	c.(592-594)Aag>Cag	p.K198Q	GH2_ENST00000456543.2_Silent_p.T196T|GH2_ENST00000332800.7_3'UTR|GH2_ENST00000449787.2_Missense_Mutation_p.K183Q			P01242	SOM2_HUMAN	growth hormone 2	198						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GTCTCGACCTTGTCCATGTCC	0.572													29	57					0	0	0	0	G	61957743	T	G	61957743	3	3	364	1	0	0	0	0	1	0	0	0	6419	1821	63	5	153	5	GH2	17	61957743	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	383225	61957743	19237467	1764	70693											
SCN4A	6329	broad.mit.edu	37	chr17	62050171	62050171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagcactcagggcccagagGcaccagggtgcacagagatg	12	3	14	12	0	1	2	1	0	0	2	1	3	1	2	2	3	2	3	2	3	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:62050171G>A	ENST00000578147.1	-	1	107	c.31C>T	c.(31-33)Cct>Tct	p.P11S	SCN4A_ENST00000435607.1_Missense_Mutation_p.P11S			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	11				VP -> AR (in Ref. 1; AAA60554).	muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGCCCAGAGGCACCAGGGTG	0.677													10	18					0	0	0	0	A	62050171	G	A	62050171	3	1	364	1	0	0	0	0	1	0	0	0	14007	1203	42	4	5575	4	SCN4A	17	62050171	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	92428	62050171	19145039	1765	70694											
POLG2	11232	broad.mit.edu	37	chr17	62479090	62479090	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaaagcaaccttaataggGgctaaacaagggtgaagttt	15	9	10	7	0	0	1	0	1	0	0	1	1	1	1	2	3	3	3	2	3	8	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:62479090G>A	ENST00000539111.2	-	6	1204	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	POLG2_ENST00000582501.1_5'UTR	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	379					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCTTAATAGGGGCTAAACAAG	0.373													9	62					0	0	0	0	A	62479090	G	A	62479090	2	1	364	1	0	0	0	0	0	0	0	1	12273	1219	43	4		4	POLG2	17	62479090	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	428919	62479090	18716120	1766	70695											
SMURF2	64750	broad.mit.edu	37	chr17	62577101	62577101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgccagggctagaatattcgGatgccggtctattgaaaatt	11	12	11	7	2	1	2	0	1	1	1	2	3	1	3	2	3	2	1	2	3	6	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:62577101G>A	ENST00000262435.9	-	8	765	c.578C>T	c.(577-579)tCc>tTc	p.S193F	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	193					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AGAATATTCGGATGCCGGTCT	0.383													13	75					0	0	0	0	A	62577101	G	A	62577101	3	1	364	1	0	0	0	0	1	0	0	0	14908	1174	41	2	1716	2	SMURF2	17	62577101	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	98011	62577101	18618109	1767	70696											
APOH	350	broad.mit.edu	37	chr17	64222175	64222175	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaaaaactgatcgtgttGggatattcaaaagtcgtata	16	11	9	5	2	1	2	1	1	0	1	3	3	1	3	0	1	1	2	0	1	8	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:64222175G>A	ENST00000205948.6	-	3	346	c.309C>T	c.(307-309)ccC>ccT	p.P103P		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	103	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TGATCGTGTTGGGATATTCAA	0.363													27	28					0	0	0	0	A	64222175	G	A	64222175	2	1	364	1	0	0	0	0	0	0	0	1	806	1335	47	4		4	APOH	17	64222175	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1645074	64222175	16973035	1768	70697											
HELZ	9931	broad.mit.edu	37	chr17	65105256	65105256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctcccctataggtaatcCcgaggggttctcatcaatga	10	10	9	12	1	2	1	2	1	1	0	5	2	4	1	4	3	1	2	4	3	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:65105256C>T	ENST00000358691.5	-	29	4631	c.4465G>A	c.(4465-4467)Gga>Aga	p.G1489R	HELZ_ENST00000580168.1_Missense_Mutation_p.G1490R	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATAGGTAATCCCGAGGGGTTC	0.448													15	102					0	0	0	0	T	65105256	C	T	65105256	3	4	364	1	0	0	0	0	1	0	0	0	7099	632	22	4	1383	4	HELZ	17	65105256	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	883081	65105256	16089954	1769	70698											
HELZ	9931	broad.mit.edu	37	chr17	65190132	65190132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgattcccctaggtggtgGgcggaaatgccaaccattac	9	10	12	10	1	0	1	0	1	0	0	1	2	1	2	4	4	3	0	4	4	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:65190132G>A	ENST00000358691.5	-	9	674	c.508C>T	c.(508-510)Cca>Tca	p.P170S	HELZ_ENST00000580168.1_Missense_Mutation_p.P170S|HELZ_ENST00000580662.1_Intron	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTAGGTGGTGGGCGGAAATGC	0.368													13	23					0	0	0	0	A	65190132	G	A	65190132	3	1	364	1	0	0	0	0	1	0	0	0	7099	1232	43	4	5420	4	HELZ	17	65190132	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	84876	65190132	16005078	1770	70699											
NOL11	25926	broad.mit.edu	37	chr17	65715796	65715796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaatttcattaggtttctGatcagaaacccttggggagc	10	14	9	8	0	3	2	2	1	1	1	3	3	3	3	1	3	2	1	1	3	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:65715796G>A	ENST00000253247.4	+	2	263	c.148G>A	c.(148-150)Gat>Aat	p.D50N	NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	50						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTAGGTTTCTGATCAGAAACC	0.323													10	24					0	0	0	0	A	65715796	G	A	65715796	3	1	364	1	0	0	0	0	1	0	0	0	10591	1290	45	2	154	2	NOL11	17	65715796	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	525664	65715796	15479414	1771	70700											
ARSG	22901	broad.mit.edu	37	chr17	66352844	66352844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgttacactgacgtggccctCcctctttatgaaaacctcaa	10	12	6	13	1	2	2	1	2	1	0	3	2	3	2	3	1	2	1	3	1	5	3	rs115207014	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:66352844C>T	ENST00000448504.2	+	6	1399	c.603C>T	c.(601-603)ctC>ctT	p.L201L	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Silent_p.L37L	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	201					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACGTGGCCCTCCCTCTTTATG	0.483													12	40					0	0	0	0	T	66352844	C	T	66352844	2	4	364	1	0	0	0	0	0	0	0	1	996	842	30	2		2	ARSG	17	66352844	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	637048	66352844	14842366	1772	70701											
ABCA6	23460	broad.mit.edu	37	chr17	67124789	67124789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccagtagtaaaggcaaaagGgctacaaatattcaaaatcc	18	8	7	8	0	1	0	1	0	0	0	3	0	3	0	2	2	1	4	2	2	10	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:67124789G>A	ENST00000284425.2	-	8	1264	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	364					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAGGCAAAAGGGCTACAAATA	0.373													15	107					0	0	0	0	A	67124789	G	A	67124789	3	1	364	1	0	0	0	0	1	0	0	0	36	1232	43	4	3891	4	ABCA6	17	67124789	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	771945	67124789	14070421	1773	70702											
DNAI2	64446	broad.mit.edu	37	chr17	72310278	72310278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagcaaccaagtccagaaGaagaccaggtggtggaggag	15	3	15	8	0	0	3	0	0	0	3	1	5	1	5	3	4	3	2	3	4	4	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:72310278G>A	ENST00000579490.1	+	12	2047	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	DNAI2_ENST00000446837.2_Missense_Mutation_p.E581K|DNAI2_ENST00000582036.1_Missense_Mutation_p.E569K|DNAI2_ENST00000307504.5_Missense_Mutation_p.R386K|DNAI2_ENST00000311014.6_Missense_Mutation_p.E581K			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	581					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAGTCCagaagaagaccaggt	0.587									Kartagener syndrome				11	45					0	0	0	0	A	72310278	G	A	72310278	3	1	364	1	0	0	0	0	1	0	0	0	4646	943	33	2	1787	2	DNAI2	17	72310278	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5185489	72310278	8884932	1774	70703											
GRIN2C	2905	broad.mit.edu	37	chr17	72843643	72843643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcgcccacagcagccacacgGacttgccgatagtgaaagct	11	5	11	14	3	0	1	0	1	0	0	0	3	0	2	3	1	4	2	3	1	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:72843643G>A	ENST00000293190.5	-	9	1951	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	GRIN2C_ENST00000347612.4_Missense_Mutation_p.S602F	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	602					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CAGCCACACGGACTTGCCGAT	0.632													11	36					0	0	0	0	A	72843643	G	A	72843643	3	1	364	1	0	0	0	0	1	0	0	0	6831	1174	41	2	1916	2	GRIN2C	17	72843643	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	533365	72843643	8351567	1775	70704											
USH1G	124590	broad.mit.edu	37	chr17	72916606	72916606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcacgcattccatgtggcCcttcatggcagccatgtcca	7	9	10	15	2	1	0	1	0	0	0	3	0	3	0	4	2	1	3	4	2	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:72916606C>T	ENST00000319642.1	-	2	507	c.325G>A	c.(325-327)Ggc>Agc	p.G109S		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	109					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TCCATGTGGCCCTTCATGGCA	0.607													48	50					0	0	0	0	T	72916606	C	T	72916606	3	4	364	1	0	0	0	0	1	0	0	0	17131	623	22	4	1068	4	USH1G	17	72916606	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	72963	72916606	8278604	1776	70705											
RNF157	114804	broad.mit.edu	37	chr17	74151749	74151749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccagacatggaggagacgGtgtcagtgctgatctgggag	10	7	17	7	1	2	3	1	1	1	2	2	6	2	5	1	4	2	1	1	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74151749G>A	ENST00000269391.6	-	15	1724	c.1592C>T	c.(1591-1593)aCc>aTc	p.T531I	RNF157_ENST00000319945.6_Missense_Mutation_p.T531I	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	531	Ser-rich.						zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GGAGGAGACGGTGTCAGTGCT	0.622													18	11					0	0	0	0	A	74151749	G	A	74151749	3	1	364	1	0	0	0	0	1	0	0	0	13539	1261	44	4	467	4	RNF157	17	74151749	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1235143	74151749	7043461	1777	70706											
QRICH2	84074	broad.mit.edu	37	chr17	74276160	74276160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggtagagtggggggcgctCcctgagctgctgtcgcagcg	4	8	18	11	3	0	2	0	1	0	1	2	2	1	2	1	4	3	5	1	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74276160C>T	ENST00000262765.5	-	12	4383	c.4204G>A	c.(4204-4206)Gag>Aag	p.E1402K		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1402							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGGGGGCGCTCCCTGAGCTGC	0.687													11	61					0	0	0	0	T	74276160	C	T	74276160	3	4	364	1	0	0	0	0	1	0	0	0	12962	864	30	2	819	2	QRICH2	17	74276160	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	124411	74276160	6919050	1778	70707											
RHBDF2	79651	broad.mit.edu	37	chr17	74475253	74475253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtcacgctggcacgaggCcttcaggcggccgtagcgca	7	5	15	14	5	2	0	2	0	0	0	2	1	2	0	2	5	1	4	2	5	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74475253C>T	ENST00000591885.1	-	5	929	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	RHBDF2_ENST00000389760.4_Missense_Mutation_p.A127T|RHBDF2_ENST00000313080.4_Missense_Mutation_p.A156T|RHBDF2_ENST00000592378.1_5'UTR			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	156					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGGCACGAGGCCTTCAGGCGG	0.677													14	42					0	0	0	0	T	74475253	C	T	74475253	3	4	364	1	0	0	0	0	1	0	0	0	13403	739	26	4	2164	4	RHBDF2	17	74475253	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	199093	74475253	6719957	1779	70708											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74621571	74621571	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtagtgatcagaaaaGcgctcatggccctcagtgat	12	10	10	9	1	4	3	4	2	0	1	4	3	4	3	1	1	1	2	1	1	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74621571G>A	ENST00000156626.7	-	9	1843	c.1644C>T	c.(1642-1644)cgC>cgT	p.R548R		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	548					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GATCAGAAAAGCGCTCATGGC	0.488													40	33					0	0	0	0	A	74621571	G	A	74621571	2	1	364	1	0	0	0	0	0	0	0	1	15313	958	34	4		4	ST6GALNAC1	17	74621571	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	146318	74621571	6573639	1780	70709											
MFSD11	79157	broad.mit.edu	37	chr17	74732409	74732409	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacttggacttggaccttCgtgcggatctggacttggag	7	11	15	8	2	1	0	0	0	1	0	2	6	1	6	1	6	1	0	1	6	0	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74732409C>A	ENST00000586622.1	+	0	302				SRSF2_ENST00000508921.3_Missense_Mutation_p.R155L|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000392485.2_Missense_Mutation_p.R167L|SRSF2_ENST00000359995.5_Missense_Mutation_p.R167L|MFSD11_ENST00000588460.1_De_novo_Start_InFrame			O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11							integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CTTGGACCTTCGTGCGGATCT	0.622													21	92					2.27731e-05	2.30627e-05	1	0	A	74732409	C	A	74732409	1	1	364	1	0	0	0	0	0	0	0	0	9598	884	31	3		3	MFSD11	17	74732409	Translation_Start_Site	SNP	C	TCGA-D6-6516-01A-11D-1870-08	110838	74732409	6462801	1781	70710											
DNAH17	8632	broad.mit.edu	37	chr17	76447632	76447632	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtccatccctggtgaccagGaagttgatgagggtgcactg	9	9	14	9	0	0	3	0	3	0	0	2	4	2	4	3	3	1	2	3	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:76447632G>A	ENST00000389840.5	-	66	10735	c.10611C>T	c.(10609-10611)ttC>ttT	p.F3537F	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.F3546F					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGTGACCAGGAAGTTGATGA	0.557													58	143					0	0	0	0	A	76447632	G	A	76447632	2	1	364	1	0	0	0	0	0	0	0	1	4638	1165	41	2		2	DNAH17	17	76447632	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1715223	76447632	4747578	1782	70711											
RNF213	57674	broad.mit.edu	37	chr17	78293249	78293249	+	Missense_Mutation	SNP	C	C	T																															tgggaagtgggcaccctcctCcctcgccaagggcaatggcg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:78293249C>T	ENST00000319921.4	+	17	3302	c.3161C>T	c.(3160-3162)tCc>tTc	p.S1054F	RNF213_ENST00000582970.1_Intron|RNF213_ENST00000508628.2_Intron|RNF213_ENST00000456466.1_Intron	NM_020954.3	NP_066005.2	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCACCCTCCTCCCTCGCCAAG	0.572													19	53					0	0	0	0	T	78293249	C	T	78293249	3	4	364	1	0	0	0	0	1	0	0	0	13562	855	30	2	3374	2	RNF213	17	78293249	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1845617	78293249	2901961	1783	70712	957	2									
RNF213	57674	broad.mit.edu	37	chr17	78293250	78293250	+	Silent	SNP	C	C	T																															gggaagtgggcaccctcctcCctcgccaagggcaatggcgc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:78293250C>T	ENST00000319921.4	+	17	3303	c.3162C>T	c.(3160-3162)tcC>tcT	p.S1054S	RNF213_ENST00000582970.1_Intron|RNF213_ENST00000508628.2_Intron|RNF213_ENST00000456466.1_Intron	NM_020954.3	NP_066005.2	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CACCCTCCTCCCTCGCCAAGG	0.577													18	52					0	0	0	0	T	78293250	C	T	78293250	2	4	364	1	0	0	0	0	0	0	0	1	13562	610	22	4		4	RNF213	17	78293250	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	78293250	2901960	1784	70713	957	2									
RNF213	57674	broad.mit.edu	37	chr17	78319833	78319833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctctgaggcagctggtataCcgggtccatgctctgccccc	5	9	11	16	1	2	1	0	1	2	0	3	1	3	1	5	3	4	4	5	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:78319833C>T	ENST00000582970.1	+	29	7841	c.7698C>T	c.(7696-7698)taC>taT	p.Y2566Y	RNF213_ENST00000336301.6_Silent_p.Y639Y|RNF213_ENST00000508628.2_Silent_p.Y2615Y	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCTGGTATACCGGGTCCATG	0.557													11	42					0	0	0	0	T	78319833	C	T	78319833	2	4	364	1	0	0	0	0	0	0	0	1	13562	518	18	4		4	RNF213	17	78319833	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	26583	78319833	2875377	1785	70714											
RNF213	57674	broad.mit.edu	37	chr17	78332094	78332094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctgtgctgcaggcacacCctctggaagcgggtccaagg	7	8	13	13	1	2	0	0	0	2	0	3	1	3	1	2	4	3	3	2	4	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:78332094C>T	ENST00000582970.1	+	37	11012	c.10869C>T	c.(10867-10869)acC>acT	p.T3623T	RNF213_ENST00000336301.6_Silent_p.T1696T|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.T3672T	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGGCACACCCTCTGGAAGC	0.542													12	41					0	0	0	0	T	78332094	C	T	78332094	2	4	364	1	0	0	0	0	0	0	0	1	13562	610	22	4		4	RNF213	17	78332094	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	12261	78332094	2863116	1786	70715											
SLC38A10	124565	broad.mit.edu	37	chr17	79234188	79234188	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgcccaggccgacccacaGcaccacctgaggagacaaag	13	1	11	16	2	0	2	0	1	0	1	0	5	0	2	5	2	1	1	5	2	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79234188G>A	ENST00000374759.3	-	11	1521	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	SLC38A10_ENST00000288439.5_Silent_p.L380L|SLC38A10_ENST00000546352.1_5'UTR	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	380					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCGACCCACAGCACCACCTGA	0.677													6	13					0	0	0	0	A	79234188	G	A	79234188	2	1	364	1	0	0	0	0	0	0	0	1	14690	962	34	4		4	SLC38A10	17	79234188	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	902094	79234188	1961022	1787	70716											
ACTG1	71	broad.mit.edu	37	chr17	79477846	79477846	+	Missense_Mutation	SNP	G	G	A																															acaccgagtacttgcgctctGggggtgcgatgatctgcaaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79477846G>A	ENST00000575842.1	-	5	1424	c.998C>T	c.(997-999)cCa>cTa	p.P333L	ACTG1_ENST00000331925.2_Missense_Mutation_p.P333L|ACTG1_ENST00000575087.1_Missense_Mutation_p.P333L|ACTG1_ENST00000573283.1_Missense_Mutation_p.P333L			P63261	ACTG_HUMAN	actin, gamma 1	333					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTTGCGCTCTGGGGGTGCGAT	0.632													47	49					0	0	0	0	A	79477846	G	A	79477846	3	1	364	1	0	0	0	0	1	0	0	0	196	1348	47	4	133	4	ACTG1	17	79477846	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	243658	79477846	1717364	1788	70717	958	2									
ACTG1	71	broad.mit.edu	37	chr17	79477847	79477847	+	Missense_Mutation	SNP	G	G	A																															caccgagtacttgcgctctgGgggtgcgatgatctgcaaag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79477847G>A	ENST00000575842.1	-	5	1423	c.997C>T	c.(997-999)Cca>Tca	p.P333S	ACTG1_ENST00000331925.2_Missense_Mutation_p.P333S|ACTG1_ENST00000575087.1_Missense_Mutation_p.P333S|ACTG1_ENST00000573283.1_Missense_Mutation_p.P333S			P63261	ACTG_HUMAN	actin, gamma 1	333					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TTGCGCTCTGGGGGTGCGATG	0.627													46	47					0	0	0	0	A	79477847	G	A	79477847	3	1	364	1	0	0	0	0	1	0	0	0	196	1232	43	4	134	4	ACTG1	17	79477847	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	79477847	1717363	1789	70718	958	2									
NPLOC4	55666	broad.mit.edu	37	chr17	79536083	79536083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccggttttcaataggaaatgGattttgcgaaatagaaaaag	16	11	10	4	2	1	1	1	0	0	1	1	4	1	3	1	3	1	1	1	3	7	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79536083G>A	ENST00000374747.5	-	14	1537	c.1408C>T	c.(1408-1410)Cca>Tca	p.P470S	NPLOC4_ENST00000539314.1_Missense_Mutation_p.P309S|NPLOC4_ENST00000331134.6_Missense_Mutation_p.P470S			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	470					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ATAGGAAATGGATTTTGCGAA	0.368													16	79					0	0	0	0	A	79536083	G	A	79536083	3	1	364	1	0	0	0	0	1	0	0	0	10657	1174	41	2	434	2	NPLOC4	17	79536083	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	58236	79536083	1659127	1790	70719											
TSPAN10	83882	broad.mit.edu	37	chr17	79612449	79612449	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgtggcttctctgggggCatccttgccttcctggtgct	2	15	12	12	1	1	0	0	0	1	0	4	0	3	0	3	4	3	3	3	4	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79612449C>T	ENST00000328585.4	+	0	558				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCTCTGGGGGCATCCTTGCCT	0.687													12	7					0	0	0	0	T	79612449	C	T	79612449	1	4	364	0	1	0	0	0	0	0	0	0	16729	697	25	4		4	TSPAN10	17	79612449	RNA	SNP	C	TCGA-D6-6516-01A-11D-1870-08	76366	79612449	1582761	1791	70720											
PYCR1	5831	broad.mit.edu	37	chr17	79892293	79892293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcatggatggtggcccCaccaggagagctgacgttgt	9	7	15	10	1	0	2	0	1	0	1	0	4	0	3	3	5	1	3	3	5	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79892293C>T	ENST00000337943.5	-	6	1148	c.706G>A	c.(706-708)Ggg>Agg	p.G236R	PYCR1_ENST00000402252.2_Missense_Mutation_p.G263R|PYCR1_ENST00000577756.1_Intron|PYCR1_ENST00000329875.8_Missense_Mutation_p.G236R|PYCR1_ENST00000403172.4_Missense_Mutation_p.G205R	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	236					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	ATGGTGGCCCCACCAGGAGAG	0.642													8	32					0	0	0	0	T	79892293	C	T	79892293	3	4	364	1	0	0	0	0	1	0	0	0	12937	594	21	4	349	4	PYCR1	17	79892293	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	279844	79892293	1302917	1792	70721											
RAC3	5881	broad.mit.edu	37	chr17	79990328	79990328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccccggagagtacatccCcaccgtgtgagtgtgggggc	6	8	14	13	2	0	2	0	1	0	1	2	3	2	2	5	3	1	1	5	3	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79990328C>T	ENST00000306897.4	+	2	239	c.101C>T	c.(100-102)cCc>cTc	p.P34L		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	34					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GAGTACATCCCCACCGTGTGA	0.677													24	31					0	0	0	0	T	79990328	C	T	79990328	3	4	364	1	0	0	0	0	1	0	0	0	13058	623	22	4	107	4	RAC3	17	79990328	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	98035	79990328	1204882	1793	70722											
DUS1L	64118	broad.mit.edu	37	chr17	80019150	80019150	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaggggtgctcccgcacGatgtccagatactcctcggc	6	7	14	14	3	0	1	0	0	0	1	4	2	3	1	3	4	2	3	3	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80019150G>A	ENST00000354321.7	-	7	1262	c.777C>T	c.(775-777)atC>atT	p.I259I	DUS1L_ENST00000306796.5_Silent_p.I259I			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	259					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCTCCCGCACGATGTCCAGAT	0.672													8	23					0	0	0	0	A	80019150	G	A	80019150	2	1	364	1	0	0	0	0	0	0	0	1	4841	1048	37	1		1	DUS1L	17	80019150	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	28822	80019150	1176060	1794	70723											
FASN	2194	broad.mit.edu	37	chr17	80046905	80046905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctcaggcacgtgccacagGgcctcctggaacagcacagg	9	5	13	14	1	1	0	1	0	0	0	2	1	2	1	3	4	4	3	3	4	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80046905G>A	ENST00000306749.2	-	14	2462	c.2244C>T	c.(2242-2244)gcC>gcT	p.A748A		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	748	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CGTGCCACAGGGCCTCCTGGA	0.697													9	9					0	0	0	0	A	80046905	G	A	80046905	2	1	364	1	0	0	0	0	0	0	0	1	5728	1219	43	4		4	FASN	17	80046905	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	27755	80046905	1148305	1795	70724											
FASN	2194	broad.mit.edu	37	chr17	80049491	80049491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgcccatccaacagcgctgGgatctcagggttggggctat	7	8	13	13	2	1	0	1	0	1	0	3	1	2	1	3	4	2	3	3	4	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80049491G>A	ENST00000306749.2	-	9	1317	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	367	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AACAGCGCTGGGATCTCAGGG	0.682													3	13					0	0	0	0	A	80049491	G	A	80049491	3	1	364	1	0	0	0	0	1	0	0	0	5728	1232	43	4	6576	4	FASN	17	80049491	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2586	80049491	1145719	1796	70725											
RAB40B	10966	broad.mit.edu	37	chr17	80622390	80622390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagagctgcagcttcaccCgccgcccgtccagcaggatg	8	5	11	17	3	1	1	1	0	0	1	2	2	2	2	5	1	4	4	5	1	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80622390C>T	ENST00000571995.1	-	2	316	c.185G>A	c.(184-186)cGg>cAg	p.R62Q	RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Missense_Mutation_p.R62Q	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	62					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CAGCTTCACCCGCCGCCCGTC	0.642													31	111					0	0	0	0	T	80622390	C	T	80622390	3	4	364	1	0	0	0	0	1	0	0	0	13023	652	23	1	671	1	RAB40B	17	80622390	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	572899	80622390	572820	1797	70726											
FN3K	64122	broad.mit.edu	37	chr17	80708411	80708411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cattatttacgacccggcttCcttctatggccattccgagt	7	14	7	13	3	1	0	0	0	1	0	3	2	3	0	4	2	1	1	4	2	3	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80708411C>T	ENST00000300784.7	+	6	772	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	237					fructoselysine metabolic process		fructosamine-3-kinase activity			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GACCCGGCTTCCTTCTATGGC	0.572													39	201					0	0	0	0	T	80708411	C	T	80708411	3	4	364	1	0	0	0	0	1	0	0	0	6008	855	30	2	732	2	FN3K	17	80708411	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	86021	80708411	486799	1798	70727											
MYOM1	8736	broad.mit.edu	37	chr18	3187612	3187612	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttcattcagcttggcAtgatatgtctcggtttcttc	5	18	9	9	1	5	1	2	1	3	0	7	1	5	1	0	3	1	3	0	3	1	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:3187612A>C	ENST00000356443.4	-	5	1128	c.795T>G	c.(793-795)caT>caG	p.H265Q	MYOM1_ENST00000261606.7_Missense_Mutation_p.H265Q|MYOM1_ENST00000400569.3_Missense_Mutation_p.H265Q	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	265						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCAGCTTGGCATGATATGTCT	0.358													13	48					0	0	0	0	C	3187612	A	C	3187612	3	2	364	1	0	0	0	0	1	0	0	0	10161	214	8	5	4398	5	MYOM1	18	3187612	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08		3187612	74889636	1799	70728											
DLGAP1	9229	broad.mit.edu	37	chr18	3534553	3534553	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaattttccagattatcatgGaagtccaggtcggcctgtac	10	12	10	9	1	1	1	1	0	0	1	4	3	3	2	3	3	1	1	3	3	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:3534553G>A	ENST00000315677.3	-	10	2713	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F	DLGAP1_ENST00000581699.1_Silent_p.F412F|DLGAP1_ENST00000400145.2_Silent_p.F404F|DLGAP1_ENST00000581527.1_Silent_p.F706F|DLGAP1_ENST00000400149.3_Silent_p.F396F|DLGAP1_ENST00000515196.2_Silent_p.F706F|DLGAP1_ENST00000400155.1_Silent_p.F412F|DLGAP1_ENST00000534970.1_Silent_p.F390F|DLGAP1_ENST00000584874.1_Silent_p.F706F|DLGAP1_ENST00000400150.3_Silent_p.F422F|DLGAP1_ENST00000400147.2_Silent_p.F404F|DLGAP1_ENST00000539435.1_Silent_p.F414F	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	706					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GATTATCATGGAAGTCCAGGT	0.483													11	34					0	0	0	0	A	3534553	G	A	3534553	2	1	364	1	0	0	0	0	0	0	0	1	4596	1165	41	2		2	DLGAP1	18	3534553	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	346941	3534553	74542695	1800	70729											
L3MBTL4	91133	broad.mit.edu	37	chr18	6239847	6239847	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccagcttcattccaacctGaaattctttagacattggcc	10	13	5	13	0	2	2	1	1	1	1	4	2	4	2	4	1	2	1	4	1	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:6239847G>A	ENST00000400104.3	-	9	777	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	L3MBTL4_ENST00000284898.6_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000535782.1_Nonsense_Mutation_p.Q6*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.Q193*			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	193					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ATTCCAACCTGAAATTCTTTA	0.468													8	46					0	0	0	0	A	6239847	G	A	6239847	4	1	364	1	0	0	0	0	0	1	0	0	8647	1299	45	2	1342	2	L3MBTL4	18	6239847	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2705294	6239847	71837401	1801	70730											
PTPRM	5797	broad.mit.edu	37	chr18	8376134	8376134	+	Missense_Mutation	SNP	G	G	A																															accatgccaccggcctgctgGgattcgtgcggcaagtcaag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:8376134G>A	ENST00000332175.8	+	23	4260	c.3223G>A	c.(3223-3225)Gga>Aga	p.G1075R	PTPRM_ENST00000444013.1_Missense_Mutation_p.G862R|PTPRM_ENST00000400060.4_Missense_Mutation_p.G1089R|PTPRM_ENST00000580170.1_Missense_Mutation_p.G1088R|PTPRM_ENST00000400053.4_Missense_Mutation_p.G1013R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1075	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CGGCCTGCTGGGATTCGTGCG	0.587													9	54					0	0	0	0	A	8376134	G	A	8376134	3	1	364	1	0	0	0	0	1	0	0	0	12888	1233	43	4	3360	4	PTPRM	18	8376134	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2136287	8376134	69701114	1802	70731	959	2									
PTPRM	5797	broad.mit.edu	37	chr18	8376135	8376135	+	Missense_Mutation	SNP	G	G	A																															ccatgccaccggcctgctggGattcgtgcggcaagtcaagt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:8376135G>A	ENST00000332175.8	+	23	4261	c.3224G>A	c.(3223-3225)gGa>gAa	p.G1075E	PTPRM_ENST00000444013.1_Missense_Mutation_p.G862E|PTPRM_ENST00000400060.4_Missense_Mutation_p.G1089E|PTPRM_ENST00000580170.1_Missense_Mutation_p.G1088E|PTPRM_ENST00000400053.4_Missense_Mutation_p.G1013E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1075	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGCCTGCTGGGATTCGTGCGG	0.592													9	56					0	0	0	0	A	8376135	G	A	8376135	3	1	364	1	0	0	0	0	1	0	0	0	12888	1174	41	2	3361	2	PTPRM	18	8376135	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	8376135	69701113	1803	70732	959	2									
ANKRD12	23253	broad.mit.edu	37	chr18	9211708	9211708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactcctttacacatggctgCtattcgaggagatgtgaaac	12	11	9	9	1	0	2	0	1	0	1	2	4	1	2	1	2	4	2	1	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9211708C>T	ENST00000383440.2	+	5	766	c.509C>T	c.(508-510)gCt>gTt	p.A170V	ANKRD12_ENST00000400020.3_Missense_Mutation_p.A170V|ANKRD12_ENST00000262126.3_Missense_Mutation_p.A193V|ANKRD12_ENST00000540578.2_3'UTR	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	193						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CACATGGCTGCTATTCGAGGA	0.363													10	43					0	0	0	0	T	9211708	C	T	9211708	3	4	364	1	0	0	0	0	1	0	0	0	640	797	28	4	596	4	ANKRD12	18	9211708	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	835573	9211708	68865540	1804	70733											
ANKRD12	23253	broad.mit.edu	37	chr18	9258557	9258557	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaaaagacagtgaatcCtcatctcctagaggaagaat	17	8	8	8	0	3	5	2	1	1	4	5	6	4	6	2	1	0	0	2	1	6	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9258557C>T	ENST00000383440.2	+	8	5480	c.5223C>T	c.(5221-5223)tcC>tcT	p.S1741S	ANKRD12_ENST00000400020.3_Silent_p.S1741S|ANKRD12_ENST00000262126.3_Silent_p.S1764S	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1764						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACAGTGAATCCTCATCTCCTA	0.398													8	27					0	0	0	0	T	9258557	C	T	9258557	2	4	364	1	0	0	0	0	0	0	0	1	640	668	24	4		4	ANKRD12	18	9258557	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	46849	9258557	68818691	1805	70734											
PPP4R1	9989	broad.mit.edu	37	chr18	9570373	9570373	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatggaaggagttatacAattcctgatctaagagagct	16	10	10	5	0	1	3	0	1	1	2	2	6	2	5	1	2	2	2	1	2	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9570373A>T	ENST00000400556.3	-	11	1428	c.1355T>A	c.(1354-1356)tTg>tAg	p.L452*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.L435*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	452					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GGAGTTATACAATTCCTGATC	0.433													21	80					0	0	0	0	T	9570373	A	T	9570373	4	4	364	1	0	0	0	0	0	1	0	0	12479	131	5	5	1537	5	PPP4R1	18	9570373	Nonsense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	311816	9570373	68506875	1806	70735											
TXNDC2	84203	broad.mit.edu	37	chr18	9887690	9887690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acccaaggagattgacatccCcaagtccccagaagaaacca	16	4	7	14	0	0	4	0	1	0	3	2	5	2	4	6	1	1	0	6	1	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9887690C>T	ENST00000306084.6	+	2	1413	c.1214C>T	c.(1213-1215)cCc>cTc	p.P405L	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.P338L|TXNDC2_ENST00000577697.1_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	405	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						ATTGACATCCCCAAGTCCCCA	0.547													11	75					0	0	0	0	T	9887690	C	T	9887690	3	4	364	1	0	0	0	0	1	0	0	0	16893	623	22	4	1220	4	TXNDC2	18	9887690	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	317317	9887690	68189558	1807	70736											
MC2R	4158	broad.mit.edu	37	chr18	13884843	13884843	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcagaagatgaagaccccGagcaggatggtcagtgtgat	13	6	14	8	1	1	5	1	2	0	3	1	7	1	6	2	2	2	2	2	2	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:13884843G>A	ENST00000327606.3	-	2	855	c.675C>T	c.(673-675)ctC>ctT	p.L225L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	225					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGAAGACCCCGAGCAGGATGG	0.552													20	33					0	0	0	0	A	13884843	G	A	13884843	2	1	364	1	0	0	0	0	0	0	0	1	9433	1045	37	1		1	MC2R	18	13884843	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3997153	13884843	64192405	1808	70737											
CTAGE1	64693	broad.mit.edu	37	chr18	19995654	19995654	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtggtggacctgggacatcCcttggagaaaaataatctgg	11	9	13	8	1	1	1	0	0	1	1	2	4	2	3	2	5	0	0	2	5	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:19995654C>T	ENST00000391403.2	-	1	2224	c.2121G>A	c.(2119-2121)agG>agA	p.R707R		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	707	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CTGGGACATCCCTTGGAGAAA	0.507													18	74					0	0	0	0	T	19995654	C	T	19995654	2	4	364	1	0	0	0	0	0	0	0	1	4024	622	22	4		4	CTAGE1	18	19995654	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	6110811	19995654	58081594	1809	70738											
LAMA3	3909	broad.mit.edu	37	chr18	21395193	21395193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacagtgagtggaactggaGagtgtaggcaggtaaagtgg	13	7	18	3	0	0	2	0	1	0	1	0	5	0	3	0	5	2	3	0	5	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:21395193G>A	ENST00000313654.9	+	16	2171	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E644K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	644	Domain V.|Laminin EGF-like 7.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGAACTGGAGAGTGTAGGCA	0.493													5	13					0	0	0	0	A	21395193	G	A	21395193	3	1	364	1	0	0	0	0	1	0	0	0	8660	943	33	2	1992	2	LAMA3	18	21395193	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1399539	21395193	56682055	1810	70739											
CDH2	1000	broad.mit.edu	37	chr18	25570168	25570168	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcttaggattgggggcAaaataagggttttcatttac	12	14	11	4	0	2	1	1	1	1	0	2	2	2	2	0	4	1	2	0	4	5	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:25570168A>G	ENST00000269141.3	-	10	1914	c.1491T>C	c.(1489-1491)ttT>ttC	p.F497F	CDH2_ENST00000399380.3_Silent_p.F466F	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	497	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATTGGGGGCAAAATAAGGGT	0.458													18	59					0	0	0	0	G	25570168	A	G	25570168	2	3	364	1	0	0	0	0	0	0	0	1	3134	127	5	5		5	CDH2	18	25570168	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	4174975	25570168	52507080	1811	70740											
RNF138	51444	broad.mit.edu	37	chr18	29706662	29706662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctgtttcttatagacatgtCctatttgtgtgtctcttcct	5	21	6	9	0	3	1	0	0	3	1	6	1	5	1	2	0	0	1	2	0	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:29706662C>T	ENST00000261593.3	+	7	1026	c.568C>T	c.(568-570)Cct>Tct	p.P190S	RNF138_ENST00000257190.5_Missense_Mutation_p.P96S	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	190					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						ATAGACATGTCCTATTTGTGT	0.299													15	50					0	0	0	0	T	29706662	C	T	29706662	3	4	364	1	0	0	0	0	1	0	0	0	13526	855	30	2	590	2	RNF138	18	29706662	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4136494	29706662	48370586	1812	70741											
ASXL3	80816	broad.mit.edu	37	chr18	31319226	31319226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcttctgagagcccagagGgagcctgtaccagcctgcct	7	10	11	13	0	2	2	0	1	2	2	2	4	2	3	5	1	5	1	5	1	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:31319226G>A	ENST00000269197.5	+	11	1858	c.1858G>A	c.(1858-1860)Gga>Aga	p.G620R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	620	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGCCCAGAGGGAGCCTGTAC	0.483													6	13					0	0	0	0	A	31319226	G	A	31319226	3	1	364	1	0	0	0	0	1	0	0	0	1072	1233	43	4	1900	4	ASXL3	18	31319226	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1612564	31319226	46758022	1813	70742											
NOL4	8715	broad.mit.edu	37	chr18	31432930	31432930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttggactcagctggggtCtggagtttgagctgctggag	6	11	17	7	0	2	1	1	1	1	0	2	4	2	4	0	5	3	5	0	5	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:31432930C>T	ENST00000261592.5	-	11	2090	c.1793G>A	c.(1792-1794)aGa>aAa	p.R598K	NOL4_ENST00000538587.1_Missense_Mutation_p.R524K|NOL4_ENST00000535475.1_Missense_Mutation_p.R379K|NOL4_ENST00000535384.1_Missense_Mutation_p.R313K|NOL4_ENST00000269185.4_Missense_Mutation_p.R382K|NOL4_ENST00000589544.1_Missense_Mutation_p.R496K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	598						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CAGCTGGGGTCTGGAGTTTGA	0.453													13	44					0	0	0	0	T	31432930	C	T	31432930	3	4	364	1	0	0	0	0	1	0	0	0	10594	913	32	2	127	2	NOL4	18	31432930	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	113704	31432930	46644318	1814	70743											
SLC39A6	25800	broad.mit.edu	37	chr18	33704511	33704511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatgaataggtctttggaggGatttcagccttcttttcact	9	16	9	7	0	4	1	2	1	2	0	4	3	4	3	1	3	1	0	1	3	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:33704511G>A	ENST00000269187.5	-	3	1155	c.942C>T	c.(940-942)atC>atT	p.I314I	SLC39A6_ENST00000590986.1_Silent_p.I314I|SLC39A6_ENST00000440549.2_Silent_p.I39I	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	314						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCTTTGGAGGGATTTCAGCCT	0.343													15	62					0	0	0	0	A	33704511	G	A	33704511	2	1	364	1	0	0	0	0	0	0	0	1	14710	1164	41	2		2	SLC39A6	18	33704511	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2271581	33704511	44372737	1815	70744											
TCEB3B	51224	broad.mit.edu	37	chr18	44561204	44561204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctcgcgactgtgagacctCgggtgaggtctctgttgccc	4	10	15	12	3	1	2	0	2	1	1	4	4	1	2	2	3	1	2	2	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:44561204C>T	ENST00000332567.4	-	1	784	c.432G>A	c.(430-432)ccG>ccA	p.P144P	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	144					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGTGAGACCTCGGGTGAGGTC	0.647													15	75					0	0	0	0	T	44561204	C	T	44561204	2	4	364	1	0	0	0	0	0	0	0	1	15776	871	31	1		1	TCEB3B	18	44561204	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	10856693	44561204	33516044	1816	70745											
KATNAL2	83473	broad.mit.edu	37	chr18	44595966	44595966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggggattcagaaaaactcGttcgggtaggaattcttaat	13	11	12	5	2	2	1	1	0	1	1	4	4	2	3	0	4	1	2	0	4	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:44595966G>A	ENST00000245121.5	+	10	981	c.787G>A	c.(787-789)Gtt>Att	p.V263I	KATNAL2_ENST00000356157.7_Missense_Mutation_p.V335I|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	335						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AGAAAAACTCGTTCGGGTAGG	0.358													11	38					0	0	0	0	A	44595966	G	A	44595966	3	1	364	1	0	0	0	0	1	0	0	0	8039	1145	40	1	821	1	KATNAL2	18	44595966	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	34762	44595966	33481282	1817	70746											
MYO5B	4645	broad.mit.edu	37	chr18	47376030	47376030	+	Splice_Site	DEL	C	C	-																															ttctaccagttctttaaggtCctggaagcagaggaagcagt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:47376030delC	ENST00000285039.7	-	32	4521	c.4221_splice	c.e32-1	p.D1408_splice	MYO5B_ENST00000592688.1_5'UTR|MYO5B_ENST00000324581.6_Splice_Site_p.D523_splice|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1408					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTTTAAGGTCCTGGAAGCAG	0.507													28	114	---	---	---	---					-	47376030	C	-	47376030	8	5	364	1	0	1	0	1	0	0	1	0	10149	869	30	0	1360	0	MYO5B	18	47376030	Splice_Site	DEL	C	TCGA-D6-6516-01A-11D-1870-08	2780064	47376030	30701218	1818	70747											
DCC	1630	broad.mit.edu	37	chr18	50866165	50866165	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagttggactcctcccttGaacccaaacatcgtggtgcg	9	10	10	12	2	0	2	0	2	0	0	3	3	2	3	3	2	3	1	3	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:50866165G>A	ENST00000442544.2	+	15	2863	c.2247G>A	c.(2245-2247)ttG>ttA	p.L749L	DCC_ENST00000412726.1_Silent_p.L597L|DCC_ENST00000581580.1_Silent_p.L404L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	749	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCCTCCCTTGAACCCAAACA	0.483													21	62					0	0	0	0	A	50866165	G	A	50866165	2	1	364	1	0	0	0	0	0	0	0	1	4314	1281	45	2		2	DCC	18	50866165	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3490135	50866165	27211083	1819	70748											
ALPK2	115701	broad.mit.edu	37	chr18	56246869	56246869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccgagacccacaacccattCcactgaggaaatgctcacac	13	5	6	17	1	1	2	1	1	0	1	2	4	2	3	4	1	2	1	4	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:56246869C>T	ENST00000361673.3	-	4	1352	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	380							ATP binding|protein serine/threonine kinase activity			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						ACAACCCATTCCACTGAGGAA	0.537											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	16					0	0	0	0	T	56246869	C	T	56246869	3	4	364	1	0	0	0	0	1	0	0	0	545	855	30	2	5413	2	ALPK2	18	56246869	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5380704	56246869	21830379	1820	70749											
CPLX4	339302	broad.mit.edu	37	chr18	56985658	56985658	+	Missense_Mutation	SNP	C	C	T																															accaaatcctaaattctttaCctggttacttatcatacttt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:56985658C>T	ENST00000299721.3	-	1	223	c.37G>A	c.(37-39)Gta>Ata	p.V13I	CPLX4_ENST00000587244.1_Missense_Mutation_p.V13I	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	13					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				AAATTCTTTACCTGGTTACTT	0.373													13	50					0	0	0	0	T	56985658	C	T	56985658	3	4	364	1	0	0	0	0	1	0	0	0	3837	507	18	4	457	4	CPLX4	18	56985658	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	738789	56985658	21091590	1821	70750	960	2									
CPLX4	339302	broad.mit.edu	37	chr18	56985659	56985659	+	Silent	SNP	C	C	T																															ccaaatcctaaattctttacCtggttacttatcatactttt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:56985659C>T	ENST00000299721.3	-	1	222	c.36G>A	c.(34-36)caG>caA	p.Q12Q	CPLX4_ENST00000587244.1_Silent_p.Q12Q	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	12					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				AATTCTTTACCTGGTTACTTA	0.373													13	49					0	0	0	0	T	56985659	C	T	56985659	2	4	364	1	0	0	0	0	0	0	0	1	3837	680	24	4		4	CPLX4	18	56985659	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	56985659	21091589	1822	70751	960	2									
KIAA1468	57614	broad.mit.edu	37	chr18	59912005	59912005	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtatttctttaggagttgatCcccctcatattgtgtacagc	8	16	8	9	0	2	1	1	1	1	0	3	2	3	2	2	1	2	3	2	1	4	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:59912005C>T	ENST00000256858.6	+	11	1877	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	KIAA1468_ENST00000398130.2_Silent_p.I543I			Q9P260	K1468_HUMAN	KIAA1468	543							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGGAGTTGATCCCCCTCATAT	0.373													16	41					0	0	0	0	T	59912005	C	T	59912005	2	4	364	1	0	0	0	0	0	0	0	1	8287	845	30	2		2	KIAA1468	18	59912005	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2926346	59912005	18165243	1823	70752											
BCL2	596	broad.mit.edu	37	chr18	60795881	60795881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtggcccagataggcacCcagggtgatgcaagctccca	9	7	12	13	0	0	2	0	1	0	1	1	2	1	2	3	3	2	3	3	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:60795881C>T	ENST00000398117.1	-	2	2158	c.697G>A	c.(697-699)Ggt>Agt	p.G233S	BCL2_ENST00000333681.4_Missense_Mutation_p.G233S|BCL2_ENST00000590515.1_5'UTR	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	233					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	AGATAGGCACCCAGGGTGATG	0.502			T	IGH@	"NHL, CLL"								10	33					0	0	0	0	T	60795881	C	T	60795881	3	4	364	1	0	0	0	0	1	0	0	0	1369	623	22	4	26	4	BCL2	18	60795881	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	883876	60795881	17281367	1824	70753											
ZNF516	9658	broad.mit.edu	37	chr18	74154069	74154069	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgttgttgatggtggcgatGgggtccagctcactcttggg	5	12	16	8	2	2	1	1	1	1	0	3	2	3	1	1	5	1	3	1	5	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:74154069G>A	ENST00000443185.2	-	3	1259	c.942C>T	c.(940-942)ccC>ccT	p.P314P	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGGTGGCGATGGGGTCCAGCT	0.617													7	41					0	0	0	0	A	74154069	G	A	74154069	2	1	364	1	0	0	0	0	0	0	0	1	18055	1335	47	4		4	ZNF516	18	74154069	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	13358188	74154069	3923179	1825	70754											
ZNF516	9658	broad.mit.edu	37	chr18	74154400	74154400	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgtcgcgtagctgcacAgcctgcacttgaacggcttg	7	8	13	13	4	0	1	0	1	0	0	1	1	0	1	1	1	6	6	1	1	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:74154400A>C	ENST00000443185.2	-	3	928	c.611T>G	c.(610-612)cTg>cGg	p.L204R	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GTAGCTGCACAGCCTGCACTT	0.662													6	23					0	0	0	0	C	74154400	A	C	74154400	3	2	364	1	0	0	0	0	1	0	0	0	18055	188	7	5	2901	5	ZNF516	18	74154400	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	331	74154400	3922848	1826	70755											
CTDP1	9150	broad.mit.edu	37	chr18	77464883	77464883	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgagctgcacgtcttcacCttcggcagccggctgtacgc	6	9	11	15	5	2	0	1	0	1	0	3	1	2	0	2	2	5	5	2	2	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:77464883C>T	ENST00000299543.7	+	5	885	c.738C>T	c.(736-738)acC>acT	p.T246T	CTDP1_ENST00000075430.7_Silent_p.T246T	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	246	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ACGTCTTCACCTTCGGCAGCC	0.607													10	35					0	0	0	0	T	77464883	C	T	77464883	2	4	364	1	0	0	0	0	0	0	0	1	4034	668	24	4		4	CTDP1	18	77464883	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3310483	77464883	612365	1827	70756											
SHC2	25759	broad.mit.edu	37	chr19	419011	419011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgttctgcaggtggtggtCgatcaggtggctgatgctct	4	12	15	10	2	3	1	1	1	2	0	4	2	3	1	1	5	2	4	1	5	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:419011C>T	ENST00000264554.6	-	12	1665	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	556	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGGTGGTGGTCGATCAGGTGG	0.672													4	2					0	0	0	0	T	419011	C	T	419011	3	4	364	1	0	0	0	0	1	0	0	0	14359	884	31	1	86	1	SHC2	19	419011	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08		419011	58709972	1828	70757											
PTBP1	5725	broad.mit.edu	37	chr19	806556	806556	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcaacctcaacccagaGgtacgtgggcttttcctccg	8	9	10	14	2	2	1	2	0	0	1	4	1	4	1	4	2	4	3	4	2	3	3	rs150400507	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:806556G>A	ENST00000356948.6	+	10	1542	c.1119_splice	c.e10+1	p.E373_splice	PTBP1_ENST00000394601.4_Splice_Site_p.E366_splice|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Splice_Site_p.E347_splice	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	347	RRM 3.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCAACCCAGAGGTACGTGGGC	0.701													4	8					0	0	0	0	A	806556	G	A	806556	5	1	364	1	0	0	0	0	0	0	1	0	12804	1014	35	4	1157	4	PTBP1	19	806556	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	387545	806556	58322427	1829	70758											
CNN2	1265	broad.mit.edu	37	chr19	1036075	1036075	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgcccccagggcctagatCtagggtccctggctgccctc	4	7	11	19	1	1	1	0	0	1	1	3	1	2	1	6	3	1	1	6	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:1036075C>T	ENST00000562958.2	+	5	433	c.400C>T	c.(400-402)Cta>Tta	p.L134L	CNN2_ENST00000606983.1_Intron|CNN2_ENST00000565096.2_Intron|CNN2_ENST00000348419.3_Intron|CNN2_ENST00000263097.4_Intron			Q99439	CNN2_HUMAN	calponin 2	130					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GGGCCTAGATCTAGGGTCCCT	0.672													4	13					0	0	0	0	T	1036075	C	T	1036075	2	4	364	1	0	0	0	0	0	0	0	1	3640	928	32	2		2	CNN2	19	1036075	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	229519	1036075	58092908	1830	70759											
ABCA7	10347	broad.mit.edu	37	chr19	1049288	1049288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtagaagaggcaccgcccGgcctgagtcctggcgtctcc	6	7	14	14	3	1	3	0	1	1	2	3	3	2	3	5	4	0	2	5	4	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:1049288G>A	ENST00000263094.6	+	18	2635	c.2404G>A	c.(2404-2406)Ggc>Agc	p.G802S	ABCA7_ENST00000435683.2_Missense_Mutation_p.G664S|ABCA7_ENST00000433129.1_Missense_Mutation_p.G802S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	802					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GGCACCGCCCGGCCTGAGTCC	0.667													21	44					0	0	0	0	A	1049288	G	A	1049288	3	1	364	1	0	0	0	0	1	0	0	0	37	1116	39	1	2470	1	ABCA7	19	1049288	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	13213	1049288	58079695	1831	70760											
ABCA7	10347	broad.mit.edu	37	chr19	1056930	1056930	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctcctcggtggacgtcctCgtctccatctgtgtggtctt	2	14	11	14	3	3	0	0	0	3	0	8	1	5	1	4	3	0	0	4	3	0	1	rs146414455		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:1056930C>T	ENST00000263094.6	+	34	4842	c.4611C>T	c.(4609-4611)ctC>ctT	p.L1537L	ABCA7_ENST00000435683.2_Silent_p.L1399L|ABCA7_ENST00000433129.1_Silent_p.L1537L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1537					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		TGGACGTCCTCGTCTCCATCT	0.577													25	58					0	0	0	0	T	1056930	C	T	1056930	2	4	364	1	0	0	0	0	0	0	0	1	37	871	31	1		1	ABCA7	19	1056930	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	7642	1056930	58072053	1832	70761											
BTBD2	55643	broad.mit.edu	37	chr19	1987221	1987221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatccatacagcccaaatcCcaccacgaagatgcgcttgt	12	7	8	14	2	0	1	0	0	0	1	2	3	2	2	4	1	3	1	4	1	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:1987221C>T	ENST00000255608.4	-	7	1229	c.1213G>A	c.(1213-1215)Gga>Aga	p.G405R		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	405						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|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)		AGCCCAAATCCCACCACGAAG	0.612													6	36					0	0	0	0	T	1987221	C	T	1987221	3	4	364	1	0	0	0	0	1	0	0	0	1552	632	22	4	376	4	BTBD2	19	1987221	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	930291	1987221	57141762	1833	70762											
APBA3	9546	broad.mit.edu	37	chr19	3760025	3760025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcaatgtgtaggggacaggGggctccacctggggatgggc	7	6	20	8	0	0	0	0	0	0	0	1	2	1	2	2	8	0	3	2	8	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:3760025G>A	ENST00000316757.3	-	2	438	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	80					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGACAGGGGGCTCCACCT	0.627													10	34					0	0	0	0	A	3760025	G	A	3760025	3	1	364	1	0	0	0	0	1	0	0	0	759	1232	43	4	1529	4	APBA3	19	3760025	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1772804	3760025	55368958	1834	70763											
DAPK3	1613	broad.mit.edu	37	chr19	3964694	3964694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtccaggatctgcttgaGgaactgggtggcctcgtcct	5	10	14	12	2	1	1	0	1	1	0	4	3	3	3	4	4	2	1	4	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:3964694G>A	ENST00000545797.2	-	3	601	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	DAPK3_ENST00000301264.3_Missense_Mutation_p.L120F			O43293	DAPK3_HUMAN	death-associated protein kinase 3	120	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTGCTTGAGGAACTGGGTG	0.632													13	93					0	0	0	0	A	3964694	G	A	3964694	3	1	364	1	0	0	0	0	1	0	0	0	4270	1000	35	4	1034	4	DAPK3	19	3964694	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	204669	3964694	55164289	1835	70764											
EEF2	1938	broad.mit.edu	37	chr19	3977901	3977901	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccttggtgatgtcggtgagGatgttggggccggtgccgtc	3	11	18	9	3	0	2	0	2	0	0	2	3	0	3	3	6	1	1	3	6	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:3977901G>A	ENST00000309311.6	-	12	2071	c.1983C>T	c.(1981-1983)atC>atT	p.I661I		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	661						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCGGTGAGGATGTTGGGGC	0.642													16	63					0	0	0	0	A	3977901	G	A	3977901	2	1	364	1	0	0	0	0	0	0	0	1	4965	1164	41	2		2	EEF2	19	3977901	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	13207	3977901	55151082	1836	70765											
PIAS4	51588	broad.mit.edu	37	chr19	4037787	4037787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggaggatgaggaggaggagGaagaggaggaggaagacgag	15	1	23	2	2	0	3	0	1	0	2	0	13	0	12	0	9	0	0	0	9	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4037787G>A	ENST00000262971.2	+	11	1562	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	483	Asp/Glu-rich (acidic).				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ggaggaggaggaagaggagga	0.701													5	10					0	0	0	0	A	4037787	G	A	4037787	3	1	364	1	0	0	0	0	1	0	0	0	11950	1175	41	2	1489	2	PIAS4	19	4037787	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	59886	4037787	55091196	1837	70766											
CREB3L3	84699	broad.mit.edu	37	chr19	4155015	4155015	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgagggctggggtcacgtCaaggaccaggtgaggagtcc	8	5	19	9	2	2	1	2	1	0	0	3	4	3	3	2	7	0	1	2	7	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4155015C>T	ENST00000078445.2	+	2	294	c.147C>T	c.(145-147)gtC>gtT	p.V49V	CREB3L3_ENST00000602257.1_Silent_p.V49V|CREB3L3_ENST00000595923.1_Silent_p.V49V|CREB3L3_ENST00000602147.1_Silent_p.V49V|CREB3L3_ENST00000252587.3_Silent_p.V40V	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	49					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTCACGTCAAGGACCAGG	0.652													15	65					0	0	0	0	T	4155015	C	T	4155015	2	4	364	1	0	0	0	0	0	0	0	1	3888	813	29	2		2	CREB3L3	19	4155015	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	117228	4155015	54973968	1838	70767											
LRG1	116844	broad.mit.edu	37	chr19	4538433	4538433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtcaagggtgcgcaggaggGtgaagttggccagcagcccg	8	5	19	9	2	1	1	1	1	0	0	1	2	1	2	2	5	3	3	2	5	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4538433G>A	ENST00000306390.6	-	2	1023	c.563C>T	c.(562-564)aCc>aTc	p.T188I	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	188						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCAGGAGGGTGAAGTTGGC	0.622													46	149					0	0	0	0	A	4538433	G	A	4538433	3	1	364	1	0	0	0	0	1	0	0	0	9006	1261	44	4	484	4	LRG1	19	4538433	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	383418	4538433	54590550	1839	70768											
DPP9	91039	broad.mit.edu	37	chr19	4697574	4697574	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacactcactatttgccatcCcgggtccacccggccctggc	6	8	9	18	2	1	0	1	0	0	0	3	1	3	0	5	3	1	0	5	3	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4697574C>T	ENST00000262960.9	-	11	1441	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R	DPP9_ENST00000598800.1_Silent_p.R359R|DPP9_ENST00000594671.1_Silent_p.R359R|DPP9_ENST00000597849.1_Silent_p.R388R	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	359					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ATTTGCCATCCCGGGTCCACC	0.632													6	24					0	0	0	0	T	4697574	C	T	4697574	2	4	364	1	0	0	0	0	0	0	0	1	4769	610	22	4		4	DPP9	19	4697574	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	159141	4697574	54431409	1840	70769											
PTPRS	5802	broad.mit.edu	37	chr19	5220306	5220306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcctctgggctacccagcgGggtcaggaattggcctccac	6	8	13	14	1	2	0	1	0	1	0	4	1	4	1	4	5	2	1	4	5	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:5220306G>A	ENST00000372412.4	-	21	3750	c.3517C>T	c.(3517-3519)Ccg>Tcg	p.P1173S	PTPRS_ENST00000357368.4_Missense_Mutation_p.P1172S|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1168S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P741S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P741S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1150S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1150S|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1172S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1172					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTACCCAGCGGGGTCAGGAAT	0.587													5	21					0	0	0	0	A	5220306	G	A	5220306	3	1	364	1	0	0	0	0	1	0	0	0	12893	1232	43	4	2404	4	PTPRS	19	5220306	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	522732	5220306	53908677	1841	70770											
SH2D3A	10045	broad.mit.edu	37	chr19	6754132	6754132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcgcagcctccgtgtGgctccttcggagctggcgcc	3	7	15	16	4	0	0	0	0	0	0	3	1	2	1	5	4	3	3	5	4	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:6754132G>A	ENST00000245908.6	-	8	1584	c.1315C>T	c.(1315-1317)Cac>Tac	p.H439Y	SH2D3A_ENST00000437152.3_Missense_Mutation_p.H346Y	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	439					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GCCTCCGTGTGGCTCCTTCGG	0.637													9	14					0	0	0	0	A	6754132	G	A	6754132	3	1	364	1	0	0	0	0	1	0	0	0	14320	1348	47	4	427	4	SH2D3A	19	6754132	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1533826	6754132	52374851	1842	70771											
CLEC4M	10332	broad.mit.edu	37	chr19	7830111	7830111	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgctgcaactcctctcCttcatgctcttggctggggt	3	14	11	13	0	3	0	1	0	2	0	5	0	4	0	2	4	4	4	2	4	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:7830111C>T	ENST00000327325.5	+	3	289	c.171C>T	c.(169-171)tcC>tcT	p.S57S	CLEC4M_ENST00000357361.2_Silent_p.S57S|CLEC4M_ENST00000248228.4_Silent_p.S57S|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000394122.2_Silent_p.S49S|CLEC4M_ENST00000597522.1_Silent_p.S57S|CLEC4M_ENST00000596363.1_Silent_p.S29S|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000334806.5_Silent_p.S29S|CLEC4M_ENST00000359059.5_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	57					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AACTCCTCTCCTTCATGCTCT	0.622													22	53					0	0	0	0	T	7830111	C	T	7830111	2	4	364	1	0	0	0	0	0	0	0	1	3548	668	24	4		4	CLEC4M	19	7830111	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1075979	7830111	51298872	1843	70772											
HNRNPM	4670	broad.mit.edu	37	chr19	8550506	8550506	+	Silent	SNP	C	C	T																															ggtggaggtggaggaagcgtCcctgggatcgagaggatggg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:8550506C>T	ENST00000348943.3	+	15	1309	c.1077C>T	c.(1075-1077)gtC>gtT	p.V359V	HNRNPM_ENST00000325495.4_Silent_p.V398V	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	398					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGGAAGCGTCCCTGGGATCG	0.632													23	95					0	0	0	0	T	8550506	C	T	8550506	2	4	364	1	0	0	0	0	0	0	0	1	7321	842	30	2		2	HNRNPM	19	8550506	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	720395	8550506	50578477	1844	70773	961	2									
HNRNPM	4670	broad.mit.edu	37	chr19	8550507	8550507	+	Missense_Mutation	SNP	C	C	T																															gtggaggtggaggaagcgtcCctgggatcgagaggatgggt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:8550507C>T	ENST00000348943.3	+	15	1310	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S	HNRNPM_ENST00000325495.4_Missense_Mutation_p.P399S	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	399					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGGAAGCGTCCCTGGGATCGA	0.637													23	95					0	0	0	0	T	8550507	C	T	8550507	3	4	364	1	0	0	0	0	1	0	0	0	7321	623	22	4	1249	4	HNRNPM	19	8550507	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	8550507	50578476	1845	70774	961	2									
MUC16	94025	broad.mit.edu	37	chr19	9068060	9068060	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggttgtgattgatgtgtcCcaggtaagggtaccctgtga	8	12	15	6	0	0	3	0	3	0	0	1	4	1	3	2	3	1	3	2	3	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9068060C>T	ENST00000397910.4	-	3	19589	c.19386G>A	c.(19384-19386)tgG>tgA	p.W6462*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6464	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						TTGATGTGTCCCAGGTAAGGG	0.483													39	119					0	0	0	0	T	9068060	C	T	9068060	4	4	364	1	0	0	0	0	0	1	0	0	10043	624	22	4	24465	4	MUC16	19	9068060	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	517553	9068060	50060923	1846	70775											
MUC16	94025	broad.mit.edu	37	chr19	9072091	9072091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcttctgtgtttatagaagGaaaaatttcctttgtgtctt	9	19	7	6	0	3	1	0	0	3	1	4	2	4	2	1	1	0	1	1	1	5	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9072091G>A	ENST00000397910.4	-	3	15558	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5121	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						TTTATAGAAGGAAAAATTTCC	0.453													28	74					0	0	0	0	A	9072091	G	A	9072091	3	1	364	1	0	0	0	0	1	0	0	0	10043	1174	41	2	28496	2	MUC16	19	9072091	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4031	9072091	50056892	1847	70776											
MUC16	94025	broad.mit.edu	37	chr19	9090942	9090942	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgatattttattatcGagaactgaagcagatgatga	13	14	9	5	1	1	6	0	4	1	2	3	7	1	6	0	0	2	1	0	0	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9090942G>T	ENST00000397910.4	-	1	1076	c.873C>A	c.(871-873)ctC>ctA	p.L291L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	291	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						TTTTATTATCGAGAACTGAAG	0.517													50	72					5.85753e-14	6.03361e-14	1	0	T	9090942	G	T	9090942	2	4	364	1	0	0	0	0	0	0	0	1	10043	1045	37	3		3	MUC16	19	9090942	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	18851	9090942	50038041	1848	70777											
ZNF559	84527	broad.mit.edu	37	chr19	9453078	9453078	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaactcaacattcacataagGgttcacactggagaaaaacc	18	7	6	10	0	3	1	3	0	0	1	3	2	3	1	1	2	3	1	1	2	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9453078G>A	ENST00000393883.2	+	6	1599	c.951G>A	c.(949-951)agG>agA	p.R317R	ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Silent_p.R317R|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Silent_p.R237R|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000587557.1_Silent_p.R381R|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000586255.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTCACATAAGGGTTCACACTG	0.368													6	53					0	0	0	0	A	9453078	G	A	9453078	2	1	364	1	0	0	0	0	0	0	0	1	18085	1223	43	4		4	ZNF559	19	9453078	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	362136	9453078	49675905	1849	70778											
ZNF177	7730	broad.mit.edu	37	chr19	9489658	9489658	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactcagtaaccttccaggaAgtggcagtggacttttccca	11	10	9	11	0	1	0	1	0	0	0	3	2	3	2	3	3	2	2	3	3	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9489658A>G	ENST00000446085.4	+	7	586	c.54A>G	c.(52-54)gaA>gaG	p.E18E	ZNF177_ENST00000602856.1_Silent_p.E18E|ZNF177_ENST00000434737.2_Silent_p.E18E|ZNF177_ENST00000602738.1_Silent_p.E18E|ZNF177_ENST00000589262.1_Silent_p.E18E|ZNF177_ENST00000343499.4_Silent_p.E18E|ZNF177_ENST00000590616.1_Silent_p.E18E|ZNF177_ENST00000605471.1_3'UTR|ZNF177_ENST00000541595.2_Silent_p.E18E			Q13360	ZN177_HUMAN	zinc finger protein 177	18	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CCTTCCAGGAAGTGGCAGTGG	0.463													20	99					0	0	0	0	G	9489658	A	G	9489658	2	3	364	1	0	0	0	0	0	0	0	1	17841	69	3	5		5	ZNF177	19	9489658	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	36580	9489658	49639325	1850	70779											
ZNF426	79088	broad.mit.edu	37	chr19	9645913	9645913	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctattcttcctgctggtgtcTtttcttcatgaaggcaaact	7	17	7	10	0	4	1	1	1	3	0	5	1	5	1	1	2	2	2	1	2	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9645913T>C	ENST00000535489.1	-	2	404	c.68A>G	c.(67-69)aAg>aGg	p.K23R	ZNF426_ENST00000253115.2_Missense_Mutation_p.K23R|ZNF426_ENST00000593003.1_Intron|ZNF426_ENST00000589289.1_Missense_Mutation_p.K23R			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGCTGGTGTCTTTTCTTCATG	0.443													3	236					0	0	0	0	C	9645913	T	C	9645913	3	2	364	1	0	0	0	0	1	0	0	0	17995	1609	56	5	1616	5	ZNF426	19	9645913	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	156255	9645913	49483070	1851	70780											
COL5A3	50509	broad.mit.edu	37	chr19	10106788	10106788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttcagacctggatgcccgGggagacccttgggggaggag	7	7	17	10	1	1	2	1	0	0	2	1	6	1	5	3	6	1	0	3	6	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:10106788G>A	ENST00000264828.3	-	15	1572	c.1487C>T	c.(1486-1488)cCc>cTc	p.P496L	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	496	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGGATGCCCGGGGAGACCCTT	0.592													30	108					0	0	0	0	A	10106788	G	A	10106788	3	1	364	1	0	0	0	0	1	0	0	0	3728	1232	43	4	3962	4	COL5A3	19	10106788	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	460875	10106788	49022195	1852	70781											
RAVER1	125950	broad.mit.edu	37	chr19	10428229	10428229	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgggctgggctcgggCgagggcagcaggtgggcaaa	6	6	19	10	2	1	0	0	0	1	0	2	1	1	0	1	6	1	5	1	6	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:10428229C>T	ENST00000293677.6	-	13	2253	c.2172G>A	c.(2170-2172)tcG>tcA	p.S724S	CTD-2369P2.12_ENST00000586529.1_Silent_p.S125S	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	0						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TGGGCTCGGGCGAGGGCAGCA	0.701													14	28					0	0	0	0	T	10428229	C	T	10428229	2	4	364	1	0	0	0	0	0	0	0	1	13176	755	27	1		1	RAVER1	19	10428229	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	321441	10428229	48700754	1853	70782											
PDE4A	5141	broad.mit.edu	37	chr19	10578238	10578238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgcgcagggacatttgggGaggacacatccgcactccca	9	6	12	14	2	0	0	0	0	0	0	2	3	2	3	3	4	1	2	3	4	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:10578238G>A	ENST00000380702.2	+	16	2536	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K	PDE4A_ENST00000592685.1_Missense_Mutation_p.E846K|PDE4A_ENST00000293683.5_Missense_Mutation_p.E842K|PDE4A_ENST00000440014.2_Missense_Mutation_p.E807K|PDE4A_ENST00000352831.6_Missense_Mutation_p.E868K|PDE4A_ENST00000344979.3_Missense_Mutation_p.E629K			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	868					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GACATTTGGGGAGGACACATC	0.692													32	42					0	0	0	0	A	10578238	G	A	10578238	3	1	364	1	0	0	0	0	1	0	0	0	11710	1175	41	2	3117	2	PDE4A	19	10578238	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	150009	10578238	48550745	1854	70783											
RGL3	57139	broad.mit.edu	37	chr19	11526779	11526779	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggggtctcggaaatcCtgagggtggtcctgcagcca	7	7	17	10	1	1	1	0	1	1	0	4	2	3	2	3	6	2	2	3	6	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:11526779C>T	ENST00000380456.3	-	5	534	c.471G>A	c.(469-471)caG>caA	p.Q157Q	RGL3_ENST00000393423.3_Silent_p.Q157Q	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	157	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTCGGAAATCCTGAGGGTGGT	0.627													10	30					0	0	0	0	T	11526779	C	T	11526779	2	4	364	1	0	0	0	0	0	0	0	1	13360	680	24	4		4	RGL3	19	11526779	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	948541	11526779	47602204	1855	70784											
ZNF627	199692	broad.mit.edu	37	chr19	11728614	11728614	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagccttcagtcgatccacTtactttcgagtacatgaaaa	14	11	6	10	2	1	1	1	1	0	0	4	3	2	1	2	0	3	1	2	0	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:11728614T>C	ENST00000361113.5	+	4	1504	c.1296T>C	c.(1294-1296)acT>acC	p.T432T	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						GTCGATCCACTTACTTTCGAG	0.433													20	31					0	0	0	0	C	11728614	T	C	11728614	2	2	364	1	0	0	0	0	0	0	0	1	18146	1596	56	5		5	ZNF627	19	11728614	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	201835	11728614	47400369	1856	70785											
ZNF799	90576	broad.mit.edu	37	chr19	12502624	12502624	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacacaacttacatttataAggtccatctccacgctgcac	12	10	4	15	1	1	0	0	0	1	0	3	0	2	0	3	1	3	2	3	1	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:12502624A>C	ENST00000419318.1	-	4	1241	c.492T>G	c.(490-492)ccT>ccG	p.P164P	ZNF799_ENST00000430385.3_Silent_p.P196P|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TACATTTATAAGGTCCATCTC	0.408													27	90					0	0	0	0	C	12502624	A	C	12502624	2	2	364	1	0	0	0	0	0	0	0	1	18259	59	3	5		5	ZNF799	19	12502624	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	774010	12502624	46626359	1857	70786											
JUNB	3726	broad.mit.edu	37	chr19	12902926	12902926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagtacttttacccccgcgGgggtggcagcggtggaggtg	6	8	17	10	3	0	0	0	0	0	0	0	1	0	1	2	6	3	2	2	6	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:12902926G>A	ENST00000302754.4	+	1	617	c.341G>A	c.(340-342)gGg>gAg	p.G114E		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	114						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						TACCCCCGCGGGGGTGGCAGC	0.667													4	11					0	0	0	0	A	12902926	G	A	12902926	3	1	364	1	0	0	0	0	1	0	0	0	8023	1232	43	4	343	4	JUNB	19	12902926	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	400302	12902926	46226057	1858	70787											
TRMT1	55621	broad.mit.edu	37	chr19	13223747	13223747	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagctgcatccaggaaGgtggctgggctgccataggg	8	7	16	10	0	0	0	0	0	0	0	1	1	1	1	2	5	4	5	2	5	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:13223747G>A	ENST00000592062.1	-	7	1290	c.720C>T	c.(718-720)acC>acT	p.T240T	TRMT1_ENST00000357720.4_Silent_p.T240T|TRMT1_ENST00000437766.1_Silent_p.T240T|TRMT1_ENST00000221504.8_Silent_p.T240T			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	240							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CATCCAGGAAGGTGGCTGGGC	0.617													5	30					0	0	0	0	A	13223747	G	A	13223747	2	1	364	1	0	0	0	0	0	0	0	1	16656	987	35	4		4	TRMT1	19	13223747	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	320821	13223747	45905236	1859	70788											
DCAF15	90379	broad.mit.edu	37	chr19	14070848	14070848	+	Missense_Mutation	SNP	C	C	T																															cattggcctgctgctcctggCcttcccgtcccccactgagg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:14070848C>T	ENST00000254337.6	+	10	1514	c.1493C>T	c.(1492-1494)gCc>gTc	p.A498V		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	498										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CTGCTCCTGGCCTTCCCGTCC	0.657											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	28					0	0	0	0	T	14070848	C	T	14070848	3	4	364	1	0	0	0	0	1	0	0	0	4300	739	26	4	1531	4	DCAF15	19	14070848	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	847101	14070848	45058135	1860	70789	962	2									
DCAF15	90379	broad.mit.edu	37	chr19	14070849	14070849	+	Silent	SNP	C	C	T																															attggcctgctgctcctggcCttcccgtcccccactgagga																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:14070849C>T	ENST00000254337.6	+	10	1515	c.1494C>T	c.(1492-1494)gcC>gcT	p.A498A		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	498										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TGCTCCTGGCCTTCCCGTCCC	0.657											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	29					0	0	0	0	T	14070849	C	T	14070849	2	4	364	1	0	0	0	0	0	0	0	1	4300	668	24	4		4	DCAF15	19	14070849	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	14070849	45058134	1861	70790	962	2									
PKN1	5585	broad.mit.edu	37	chr19	14554311	14554311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcccctggtgcgggtggcCccacctgctcggccaccaac	5	6	12	18	2	0	0	0	0	0	0	2	0	1	0	7	4	3	1	7	4	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:14554311C>T	ENST00000242783.6	+	3	517	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S	PKN1_ENST00000342216.4_Missense_Mutation_p.P124S|PKN1_ENST00000587429.1_3'UTR	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	118					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGCGGGTGGCCCCACCTGCTC	0.662													6	11					0	0	0	0	T	14554311	C	T	14554311	3	4	364	1	0	0	0	0	1	0	0	0	12051	623	22	4	405	4	PKN1	19	14554311	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	483462	14554311	44574672	1862	70791											
C19orf44	84167	broad.mit.edu	37	chr19	16611992	16611992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgatgctggtcttccaaagaGagctgacagaatcctctctg	10	10	10	11	1	2	3	0	1	2	2	5	5	4	3	2	1	2	2	2	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:16611992G>A	ENST00000221671.3	+	2	545	c.389G>A	c.(388-390)aGa>aAa	p.R130K	C19orf44_ENST00000594035.1_Missense_Mutation_p.R130K|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	130										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CTTCCAAAGAGAGCTGACAGA	0.527													10	30					0	0	0	0	A	16611992	G	A	16611992	3	1	364	1	0	0	0	0	1	0	0	0	1945	942	33	2	391	2	C19orf44	19	16611992	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2057681	16611992	42516991	1863	70792											
C19orf44	84167	broad.mit.edu	37	chr19	16612055	16612055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagaacacagacaaaacttCccagaatcaagcccgtgaac	17	4	6	14	1	1	4	1	1	0	3	2	4	2	4	3	0	4	0	3	0	6	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:16612055C>T	ENST00000221671.3	+	2	608	c.452C>T	c.(451-453)tCc>tTc	p.S151F	C19orf44_ENST00000594035.1_Missense_Mutation_p.S151F|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	151										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GACAAAACTTCCCAGAATCAA	0.483													24	21					0	0	0	0	T	16612055	C	T	16612055	3	4	364	1	0	0	0	0	1	0	0	0	1945	855	30	2	454	2	C19orf44	19	16612055	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	63	16612055	42516928	1864	70793											
CPAMD8	27151	broad.mit.edu	37	chr19	17104264	17104264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgacgtggggatggaggGgatttcaaaccccactagtc	9	8	15	9	1	1	1	1	1	0	0	2	4	1	4	2	6	1	1	2	6	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:17104264G>A	ENST00000443236.1	-	12	1400	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	CPAMD8_ENST00000388925.4_Missense_Mutation_p.P410S	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	410						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGATGGAGGGGATTTCAAAC	0.577													8	19					0	0	0	0	A	17104264	G	A	17104264	3	1	364	1	0	0	0	0	1	0	0	0	3825	1232	43	4	4553	4	CPAMD8	19	17104264	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	492209	17104264	42024719	1865	70794											
PLVAP	83483	broad.mit.edu	37	chr19	17476205	17476205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttggccaggttgtctcgttCcttccgcagcaccgccttct	3	13	9	16	3	2	0	0	0	2	0	5	0	4	0	5	2	1	4	5	2	0	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:17476205C>T	ENST00000252590.4	-	3	1130	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	357						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGTCTCGTTCCTTCCGCAGC	0.622													38	38					0	0	0	0	T	17476205	C	T	17476205	3	4	364	1	0	0	0	0	1	0	0	0	12188	864	30	2	275	2	PLVAP	19	17476205	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	371941	17476205	41652778	1866	70795											
MAP1S	55201	broad.mit.edu	37	chr19	17838435	17838435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccctgtgaatttgagcatCgcaaggcggtgccaatggca	10	8	12	11	2	0	2	0	2	0	0	1	2	0	2	2	3	2	3	2	3	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:17838435C>T	ENST00000324096.4	+	5	2393	c.2242C>T	c.(2242-2244)Cgc>Tgc	p.R748C	MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.R722C	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	748	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ATTTGAGCATCGCAAGGCGGT	0.701													5	12					0	0	0	0	T	17838435	C	T	17838435	3	4	364	1	0	0	0	0	1	0	0	0	9303	884	31	1	2260	1	MAP1S	19	17838435	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	362230	17838435	41290548	1867	70796											
IL12RB1	3594	broad.mit.edu	37	chr19	18182998	18182998	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgaggagatgacagccacGttgtaggcagcacccgagag	11	6	14	10	3	0	3	0	1	0	2	1	6	0	3	2	2	2	4	2	2	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:18182998G>A	ENST00000600835.1	-	10	1248	c.945C>T	c.(943-945)aaC>aaT	p.N315N	IL12RB1_ENST00000430026.2_Silent_p.N315N|IL12RB1_ENST00000322153.6_Silent_p.N315N|IL12RB1_ENST00000593993.1_Silent_p.N315N			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	315	Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TGACAGCCACGTTGTAGGCAG	0.617													12	21					0	0	0	0	A	18182998	G	A	18182998	2	1	364	1	0	0	0	0	0	0	0	1	7679	1136	40	1		1	IL12RB1	19	18182998	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	344563	18182998	40945985	1868	70797											
MAST3	23031	broad.mit.edu	37	chr19	18241341	18241341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccgtgacacacggcagCgctttgccatcaagaagatc	11	6	11	13	3	1	3	1	1	0	2	2	3	1	3	2	2	2	3	2	2	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:18241341C>A	ENST00000262811.5	+	13	1174	c.1174C>A	c.(1174-1176)Cgc>Agc	p.R392S		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	392	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CACACGGCAGCGCTTTGCCAT	0.592													3	9					1	1	1	0	A	18241341	C	A	18241341	3	1	364	1	0	0	0	0	1	0	0	0	9395	768	27	3	1224	3	MAST3	19	18241341	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	58343	18241341	40887642	1869	70798											
ISYNA1	51477	broad.mit.edu	37	chr19	18548556	18548556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccggaaggtgaagcgcgtGgacgtggggtgcacctgaag	8	6	19	8	4	0	2	0	2	0	0	1	4	1	4	2	5	2	1	2	5	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:18548556G>A	ENST00000338128.7	-	3	352	c.135C>T	c.(133-135)tcC>tcT	p.S45S	ISYNA1_ENST00000457269.3_Intron|ISYNA1_ENST00000317018.6_5'UTR|ISYNA1_ENST00000545187.1_Intron	NM_016368.4	NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	45					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TGAAGCGCGTGGACGTGGGGT	0.721													3	4					0	0	0	0	A	18548556	G	A	18548556	2	1	364	1	0	0	0	0	0	0	0	1	7920	1335	47	4		4	ISYNA1	19	18548556	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	307215	18548556	40580427	1870	70799											
NCAN	1463	broad.mit.edu	37	chr19	19337547	19337547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccatgctggcctcatggcCcactggggaagtgtggctaa	7	8	13	13	0	1	0	1	0	0	0	1	1	1	1	4	5	1	2	4	5	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:19337547C>T	ENST00000252575.5	+	7	1368	c.1325C>T	c.(1324-1326)cCc>cTc	p.P442L		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	442					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GCCTCATGGCCCACTGGGGAA	0.622													4	17					0	0	0	0	T	19337547	C	T	19337547	3	4	364	1	0	0	0	0	1	0	0	0	10274	623	22	4	1347	4	NCAN	19	19337547	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	788991	19337547	39791436	1871	70800											
ZNF676	163223	broad.mit.edu	37	chr19	22363931	22363931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcttcacatttgtaGggtttctctccagtatgaat	9	16	6	10	0	3	1	1	1	2	0	5	1	4	1	2	1	0	3	2	1	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:22363931G>A	ENST00000397121.2	-	3	905	c.588C>T	c.(586-588)ccC>ccT	p.P196P		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAGGGTTTCTCTC	0.348													33	43					0	0	0	0	A	22363931	G	A	22363931	2	1	364	1	0	0	0	0	0	0	0	1	18178	987	35	4		4	ZNF676	19	22363931	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3026384	22363931	36765052	1872	70801											
ZNF99	7652	broad.mit.edu	37	chr19	22940685	22940685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acattcttcacatttgtaggGtttctcttcagtatgaatta	10	18	6	7	0	4	1	2	1	2	0	5	1	4	1	0	1	0	3	0	1	4	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:22940685G>A	ENST00000397104.3	-	5	1752	c.1753C>T	c.(1753-1755)Ccc>Tcc	p.P585S	ZNF99_ENST00000596209.1_Missense_Mutation_p.P676S					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTTGTAGGGTTTCTCTTCA	0.368													21	22					0	0	0	0	A	22940685	G	A	22940685	3	1	364	1	0	0	0	0	1	0	0	0	18297	1261	44	4	1371	4	ZNF99	19	22940685	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	576754	22940685	36188298	1873	70802											
ZNF99	7652	broad.mit.edu	37	chr19	22941815	22941815	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttatgtctagtaaggTgtgaggattgcttaaaagct	10	16	11	4	0	1	1	0	1	1	0	1	2	1	2	0	2	3	4	0	2	5	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:22941815T>G	ENST00000397104.3	-	5	622	c.623A>C	c.(622-624)cAc>cCc	p.H208P	ZNF99_ENST00000596209.1_Missense_Mutation_p.H299P					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTAGTAAGGTGTGAGGATTG	0.358													16	40					0	0	0	0	G	22941815	T	G	22941815	3	3	364	1	0	0	0	0	1	0	0	0	18297	1696	59	5	2501	5	ZNF99	19	22941815	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1130	22941815	36187168	1874	70803											
UQCRFS1	7386	broad.mit.edu	37	chr19	29698650	29698650	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaacacctatcaggataacCcattcaggtttctttactcg	12	12	5	12	1	3	0	2	0	1	0	4	1	3	1	2	2	3	1	2	2	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:29698650C>T	ENST00000304863.4	-	2	1052	c.630G>A	c.(628-630)tgG>tgA	p.W210*		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	210	Rieske.				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TCAGGATAACCCATTCAGGTT	0.453													45	146					0	0	0	0	T	29698650	C	T	29698650	4	4	364	1	0	0	0	0	0	1	0	0	17117	624	22	4	198	4	UQCRFS1	19	29698650	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	6756835	29698650	29430333	1875	70804											
RHPN2	85415	broad.mit.edu	37	chr19	33493156	33493156	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccccccaggccttaccctGgtggtcgatgaggaggatgg	8	7	14	12	1	0	1	0	1	0	0	1	4	0	3	5	6	2	0	5	6	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:33493156G>A	ENST00000254260.3	-	9	1137	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	RHPN2_ENST00000400226.4_Nonsense_Mutation_p.Q217*	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	368	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCCTTACCCTGGTGGTCGATG	0.632													8	17					0	0	0	0	A	33493156	G	A	33493156	4	1	364	1	0	0	0	0	0	1	0	0	13434	1357	47	4	986	4	RHPN2	19	33493156	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3794506	33493156	25635827	1876	70805											
CHST8	64377	broad.mit.edu	37	chr19	34262944	34262944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttatccagtggggcccCgaggggccgcaacctgccag	7	5	15	14	2	0	0	0	0	0	0	1	2	1	1	6	5	2	1	6	5	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:34262944C>T	ENST00000262622.3	+	4	1009	c.251C>T	c.(250-252)cCg>cTg	p.P84L	CHST8_ENST00000438847.2_Missense_Mutation_p.P84L|CHST8_ENST00000434302.1_Missense_Mutation_p.P84L	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	84					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AGTGGGGCCCCGAGGGGCCGC	0.672													7	38					0	0	0	0	T	34262944	C	T	34262944	3	4	364	1	0	0	0	0	1	0	0	0	3439	652	23	1	261	1	CHST8	19	34262944	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	769788	34262944	24866039	1877	70806											
LSM14A	26065	broad.mit.edu	37	chr19	34710646	34710646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaggagaagcctgtaaatGgtgaagataaaggagactca	18	6	12	5	0	1	4	1	1	0	3	1	6	1	4	1	3	2	1	1	3	7	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:34710646G>A	ENST00000544216.3	+	8	1077	c.1000G>A	c.(1000-1002)Ggt>Agt	p.G334S	LSM14A_ENST00000540746.2_Missense_Mutation_p.G293S|LSM14A_ENST00000433627.5_Missense_Mutation_p.G334S	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	334					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GCCTGTAAATGGTGAAGATAA	0.358													9	20					0	0	0	0	A	34710646	G	A	34710646	3	1	364	1	0	0	0	0	1	0	0	0	9118	1348	47	4	1030	4	LSM14A	19	34710646	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	447702	34710646	24418337	1878	70807											
ZNF302	55900	broad.mit.edu	37	chr19	35175542	35175542	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttgtaatagagagaaaatCtatacatgcagtgaatgtgg	16	11	10	4	0	1	3	0	1	1	2	1	4	1	3	0	1	2	2	0	1	7	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35175542C>T	ENST00000505242.1	+	5	1094	c.600C>T	c.(598-600)atC>atT	p.I200I	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Silent_p.I200I|ZNF302_ENST00000446502.2_Silent_p.I244I|ZNF302_ENST00000423823.2_Silent_p.I200I			Q9NR11	ZN302_HUMAN	zinc finger protein 302	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGAGAAAATCTATACATGCA	0.413													36	149					0	0	0	0	T	35175542	C	T	35175542	2	4	364	1	0	0	0	0	0	0	0	1	17927	903	32	2		2	ZNF302	19	35175542	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	464896	35175542	23953441	1879	70808											
ZNF792	126375	broad.mit.edu	37	chr19	35449808	35449808	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggagtgctggctgaagaaTtttccacattcacagcactc	10	11	9	11	0	1	2	1	1	0	1	3	3	2	3	1	2	2	3	1	2	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35449808T>C	ENST00000404801.1	-	4	1337	c.951A>G	c.(949-951)aaA>aaG	p.K317K	ZNF792_ENST00000605484.1_Silent_p.K250K	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCTGAAGAATTTTCCACATT	0.488													5	18					0	0	0	0	C	35449808	T	C	35449808	2	2	364	1	0	0	0	0	0	0	0	1	18257	1490	52	5		5	ZNF792	19	35449808	Silent	SNP	T	TCGA-D6-6516-01A-11D-1870-08	274266	35449808	23679175	1880	70809											
SCN1B	6324	broad.mit.edu	37	chr19	35524699	35524699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccggagagccagatggagGgacagatggcaggcagtgga	12	3	18	8	1	0	3	0	0	0	3	0	7	0	6	2	6	1	2	2	6	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35524699G>A	ENST00000415950.3	+	3	504	c.504G>A	c.(502-504)agG>agA	p.R168R	SCN1B_ENST00000596348.1_Intron|SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000262631.5_Intron	NM_199037.3	NP_950238.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	46					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCAGATGGAGGGACAGATGGC	0.647													9	49					0	0	0	0	A	35524699	G	A	35524699	2	1	364	1	0	0	0	0	0	0	0	1	14002	1223	43	4		4	SCN1B	19	35524699	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	74891	35524699	23604284	1881	70810											
FAM187B	148109	broad.mit.edu	37	chr19	35715962	35715962	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgggtttgaactgggccacGagctcctgctgcacgaagca	8	7	14	12	3	0	1	0	1	0	0	1	3	1	1	2	2	5	5	2	2	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35715962G>A	ENST00000324675.3	-	2	924	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	292						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						ACTGGGCCACGAGCTCCTGCT	0.662													8	33					0	0	0	0	A	35715962	G	A	35715962	2	1	364	1	0	0	0	0	0	0	0	1	5555	1045	37	1		1	FAM187B	19	35715962	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	191263	35715962	23413021	1882	70811											
FFAR2	2867	broad.mit.edu	37	chr19	35941446	35941446	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgctcttctatttctcttCttcagtggtgcgcagggcat	4	16	9	12	1	5	0	1	0	4	0	6	0	5	0	1	2	2	3	1	2	1	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35941446C>G	ENST00000599180.1	+	2	910	c.830C>G	c.(829-831)tCt>tGt	p.S277C	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.S277C			O15552	FFAR2_HUMAN	free fatty acid receptor 2	277						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TATTTCTCTTCTTCAGTGGTG	0.582													32	107					0	0	0	0	G	35941446	C	G	35941446	3	3	364	1	0	0	0	0	1	0	0	0	5873	913	32	2	832	2	FFAR2	19	35941446	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	225484	35941446	23187537	1883	70812											
C19orf55	148137	broad.mit.edu	37	chr19	36250286	36250286	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgcagcctgccagtttTctccattcaagatagtccct	7	14	6	14	0	3	1	1	0	2	1	5	1	4	1	4	0	3	2	4	0	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36250286T>G	ENST00000544099.1	+	2	86	c.23T>G	c.(22-24)tTc>tGc	p.F8C	C19orf55_ENST00000421853.2_Intron|C19orf55_ENST00000537459.1_Missense_Mutation_p.F8C|C19orf55_ENST00000536950.1_Missense_Mutation_p.F8C|C19orf55_ENST00000396908.4_Missense_Mutation_p.F8C			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	8										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCCAGTTTTCTCCATTCAA	0.592													3	19					0	0	0	0	G	36250286	T	G	36250286	3	3	364	1	0	0	0	0	1	0	0	0	1955	1783	62	5	29	5	C19orf55	19	36250286	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	308840	36250286	22878697	1884	70813											
KIRREL2	84063	broad.mit.edu	37	chr19	36351440	36351440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgggcaaaagggggctctCcggtgctcggggcccgcggg	4	5	21	11	4	1	0	0	0	1	0	3	0	1	0	2	8	1	3	2	8	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36351440C>T	ENST00000360202.5	+	7	997	c.799C>T	c.(799-801)Ccg>Tcg	p.P267S	KIRREL2_ENST00000347900.6_Missense_Mutation_p.P217S|KIRREL2_ENST00000262625.7_Missense_Mutation_p.P267S|KIRREL2_ENST00000586102.2_Missense_Mutation_p.P247S|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P267S|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	267	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGGGGCTCTCCGGTGCTCGG	0.647													19	45					0	0	0	0	T	36351440	C	T	36351440	3	4	364	1	0	0	0	0	1	0	0	0	8377	855	30	2	825	2	KIRREL2	19	36351440	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	101154	36351440	22777543	1885	70814											
KIRREL2	84063	broad.mit.edu	37	chr19	36353414	36353414	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacttgctgcccactgtgcgGatagtggccggagtggccgc	5	8	16	12	3	0	0	0	0	0	0	0	3	0	2	3	4	3	1	3	4	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36353414G>A	ENST00000360202.5	+	12	1728	c.1530G>A	c.(1528-1530)cgG>cgA	p.R510R	KIRREL2_ENST00000347900.6_Silent_p.R460R|KIRREL2_ENST00000262625.7_Silent_p.R510R|KIRREL2_ENST00000586102.2_Silent_p.R490R|KIRREL2_ENST00000592409.1_Intron|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	510					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACTGTGCGGATAGTGGCCG	0.627													30	131					0	0	0	0	A	36353414	G	A	36353414	2	1	364	1	0	0	0	0	0	0	0	1	8377	1161	41	2		2	KIRREL2	19	36353414	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1974	36353414	22775569	1886	70815											
WDR62	284403	broad.mit.edu	37	chr19	36573968	36573968	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtccttcctgcagaccCtgctgaaggtcgtgtacgtg	5	11	11	14	2	0	2	0	1	0	1	3	2	2	2	4	1	3	3	4	1	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36573968C>T	ENST00000401500.2	+	11	1410	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	WDR62_ENST00000270301.7_Silent_p.L459L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	459					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCTGCAGACCCTGCTGAAGGT	0.552													4	15					0	0	0	0	T	36573968	C	T	36573968	2	4	364	1	0	0	0	0	0	0	0	1	17409	680	24	4		4	WDR62	19	36573968	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	220554	36573968	22555015	1887	70816											
ZNF420	147923	broad.mit.edu	37	chr19	37618342	37618342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtgggaaagccttcagacGagcctcacacctaacacaac	14	6	8	13	1	2	1	2	0	0	1	2	3	2	2	3	1	4	0	3	1	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:37618342G>A	ENST00000337995.3	+	5	664	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	ZNF420_ENST00000304239.7_Missense_Mutation_p.R150Q|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCTTCAGACGAGCCTCACAC	0.398													12	45					0	0	0	0	A	37618342	G	A	37618342	3	1	364	1	0	0	0	0	1	0	0	0	17992	1058	37	1	459	1	ZNF420	19	37618342	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1044374	37618342	21510641	1888	70817											
ZNF527	84503	broad.mit.edu	37	chr19	37880348	37880348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acatcagagaattcataccgGagaaaagccctatgaatgca	17	7	8	9	1	2	3	2	1	0	2	2	5	2	3	2	1	3	1	2	1	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:37880348G>A	ENST00000436120.2	+	5	1504	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCATACCGGAGAAAAGCCC	0.408													9	55					0	0	0	0	A	37880348	G	A	37880348	3	1	364	1	0	0	0	0	1	0	0	0	18063	1174	41	2	1411	2	ZNF527	19	37880348	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	262006	37880348	21248635	1889	70818											
ZNF607	84775	broad.mit.edu	37	chr19	38189304	38189304	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagttcggtcatgatatatGaggcttgtggcatgacgaaa	11	12	13	5	2	1	4	1	4	0	0	2	5	1	4	0	3	0	3	0	3	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38189304G>A	ENST00000355202.4	-	5	2323	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.L575L	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CATGATATATGAGGCTTGTGG	0.403													10	36					0	0	0	0	A	38189304	G	A	38189304	2	1	364	1	0	0	0	0	0	0	0	1	18128	1277	45	2		2	ZNF607	19	38189304	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	308956	38189304	20939679	1890	70819											
SIPA1L3	23094	broad.mit.edu	37	chr19	38655373	38655373	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtatgggcctttgtggCgggggtcgcgaggccgctgg	4	8	21	8	4	0	0	0	0	0	0	1	2	0	1	2	7	0	2	2	7	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38655373C>G	ENST00000222345.6	+	15	4544	c.4035C>G	c.(4033-4035)ggC>ggG	p.G1345G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1345					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCTTTGTGGCGGGGGTCGCG	0.692													5	15					0	0	0	0	G	38655373	C	G	38655373	2	3	364	1	0	0	0	0	0	0	0	1	14419	755	27	3		3	SIPA1L3	19	38655373	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	466069	38655373	20473610	1891	70820											
C19orf33	64073	broad.mit.edu	37	chr19	38795209	38795209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagggtcctgccttaggcctCcaacttcagggggctgggta	6	9	14	12	0	1	0	1	0	0	0	3	0	3	0	4	5	2	2	4	5	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38795209C>T	ENST00000591889.1	+	5	346	c.346C>T	c.(346-348)Cca>Tca	p.P116S	C19orf33_ENST00000301246.5_Intron|C19orf33_ENST00000588605.1_Missense_Mutation_p.S48F																							CCTTAGGCCTCCAACTTCAGG	0.667													4	14					0	0	0	0	T	38795209	C	T	38795209	3	4	364	1	0	0	0	0	1	0	0	0	1937	870	30	2		2	C19orf33	19	38795209	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	139836	38795209	20333774	1892	70821											
CATSPERG	57828	broad.mit.edu	37	chr19	38847129	38847129	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttgctctgcagatggcCaggtgtcctttgagatgctg	6	12	13	10	0	1	2	0	1	1	2	2	4	2	2	3	2	3	3	3	2	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38847129C>T	ENST00000409235.3	+	10	1256	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	CATSPERG_ENST00000215069.4_Intron|CATSPERG_ENST00000410018.1_Nonsense_Mutation_p.Q381*	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	381					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGCAGATGGCCAGGTGTCCTT	0.607													11	63					0	0	0	0	T	38847129	C	T	38847129	4	4	364	1	0	0	0	0	0	1	0	0	2717	595	21	4	1175	4	CATSPERG	19	38847129	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	51920	38847129	20281854	1893	70822											
CATSPERG	57828	broad.mit.edu	37	chr19	38858334	38858334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggtagctatgttctgctgGtggtgggtggcgggcccaca	4	11	17	9	1	1	0	0	0	1	0	1	0	1	0	1	6	2	4	1	6	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38858334G>A	ENST00000409235.3	+	25	2963	c.2848G>A	c.(2848-2850)Gtg>Atg	p.V950M	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.V910M	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	950					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGTTCTGCTGGTGGTGGGTGG	0.607													68	251					0	0	0	0	A	38858334	G	A	38858334	3	1	364	1	0	0	0	0	1	0	0	0	2717	1261	44	4	2942	4	CATSPERG	19	38858334	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	11205	38858334	20270649	1894	70823											
PSMD8	5714	broad.mit.edu	37	chr19	38871607	38871607	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccgccgagagctacacCttcttcattgacatcctgct	8	11	6	16	2	2	2	1	1	1	1	4	3	4	2	5	0	3	2	5	0	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38871607C>T	ENST00000592035.1	+	5	912	c.270C>T	c.(268-270)acC>acT	p.T90T	PSMD8_ENST00000602911.1_Silent_p.T194T|PSMD8_ENST00000215071.4_Silent_p.T257T			P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	257					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGAGCTACACCTTCTTCATTG	0.572													3	7					0	0	0	0	T	38871607	C	T	38871607	2	4	364	1	0	0	0	0	0	0	0	1	12783	668	24	4		4	PSMD8	19	38871607	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	13273	38871607	20257376	1895	70824											
GGN	199720	broad.mit.edu	37	chr19	38877078	38877078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctgaggcagcaaagaggCcgccgcctccgccgcccccc	7	2	11	21	4	0	2	0	1	0	1	1	2	1	2	9	2	1	2	9	2	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38877078C>T	ENST00000334928.6	-	3	956	c.824G>A	c.(823-825)gGc>gAc	p.G275D	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	275	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGCAAAGAGGCCGCCGCCTCC	0.647													11	35					0	0	0	0	T	38877078	C	T	38877078	3	4	364	1	0	0	0	0	1	0	0	0	6409	739	26	4	1142	4	GGN	19	38877078	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5471	38877078	20251905	1896	70825											
SIRT2	22933	broad.mit.edu	37	chr19	39369801	39369801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagatgcagctgtcactgGggtttctccctctctgttgt	4	14	13	10	0	3	1	1	0	2	1	5	2	3	1	1	3	2	4	1	3	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39369801G>A	ENST00000249396.7	-	16	1465	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P	SIRT2_ENST00000392081.2_Silent_p.P351P|SIRT2_ENST00000358931.5_3'UTR	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	388					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GCTGTCACTGGGGTTTCTCCC	0.657													17	32					0	0	0	0	A	39369801	G	A	39369801	2	1	364	1	0	0	0	0	0	0	0	1	14426	1219	43	4		4	SIRT2	19	39369801	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	492723	39369801	19759182	1897	70826											
PAK4	10298	broad.mit.edu	37	chr19	39664427	39664427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccctggcccccgctcacCacagcgggagccacagcgag	7	2	12	20	3	1	0	1	0	0	0	1	2	1	1	6	2	3	1	6	2	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39664427C>T	ENST00000599386.1	+	4	597	c.416C>T	c.(415-417)cCa>cTa	p.P139L	PAK4_ENST00000321944.4_Missense_Mutation_p.P202L|PAK4_ENST00000358301.3_Missense_Mutation_p.P292L|PAK4_ENST00000599470.1_Missense_Mutation_p.P139L|PAK4_ENST00000593690.1_Missense_Mutation_p.P292L|PAK4_ENST00000435673.2_Missense_Mutation_p.P292L|PAK4_ENST00000360442.3_Missense_Mutation_p.P292L	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	292	Linker.		A -> T (in dbSNP:rs35655056).		cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCCCGCTCACCACAGCGGGAG	0.711													6	10					0	0	0	0	T	39664427	C	T	39664427	3	4	364	1	0	0	0	0	1	0	0	0	11474	594	21	4	885	4	PAK4	19	39664427	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	294626	39664427	19464556	1898	70827											
LRFN1	57622	broad.mit.edu	37	chr19	39804666	39804666	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggccagcggatgagcacGgagttcgaggtgagctcggc	7	6	18	10	4	0	2	0	2	0	0	2	5	0	4	1	5	3	4	1	5	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39804666G>A	ENST00000248668.4	-	1	1310	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	437	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGATGAGCACGGAGTTCGAGG	0.642													11	28					0	0	0	0	A	39804666	G	A	39804666	2	1	364	1	0	0	0	0	0	0	0	1	9001	1103	39	1		1	LRFN1	19	39804666	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	140239	39804666	19324317	1899	70828											
PAF1	54623	broad.mit.edu	37	chr19	39880374	39880374	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtttgtgctgtttctcCaaggaagtggctttgtactg	6	17	11	7	0	2	0	1	0	1	0	3	1	2	1	1	2	2	5	1	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39880374C>T	ENST00000221265.3	-	4	528	c.198G>A	c.(196-198)ttG>ttA	p.L66L	PAF1_ENST00000221266.7_Silent_p.L56L|PAF1_ENST00000595564.1_Silent_p.L56L	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	66					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCTGTTTCTCCAAGGAAGTGG	0.552													29	158					0	0	0	0	T	39880374	C	T	39880374	2	4	364	1	0	0	0	0	0	0	0	1	11454	593	21	4		4	PAF1	19	39880374	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	75708	39880374	19248609	1900	70829											
PLEKHG2	64857	broad.mit.edu	37	chr19	39915563	39915563	+	Missense_Mutation	SNP	C	C	T																															cgccacctcatagtcccccaCcttccagccgtcagctcctg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39915563C>T	ENST00000425673.1	+	17	4028	c.3703C>T	c.(3703-3705)Cct>Tct	p.P1235S	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P1264S|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000409797.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1264					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TAGTCCCCCACCTTCCAGCCG	0.602													17	90					0	0	0	0	T	39915563	C	T	39915563	3	4	364	1	0	0	0	0	1	0	0	0	12141	507	18	4	3860	4	PLEKHG2	19	39915563	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	35189	39915563	19213420	1901	70830	963	2									
PLEKHG2	64857	broad.mit.edu	37	chr19	39915564	39915564	+	Missense_Mutation	SNP	C	C	T																															gccacctcatagtcccccacCttccagccgtcagctcctgg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39915564C>T	ENST00000425673.1	+	17	4029	c.3704C>T	c.(3703-3705)cCt>cTt	p.P1235L	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P1264L|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000409797.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1264					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGTCCCCCACCTTCCAGCCGT	0.607													17	89					0	0	0	0	T	39915564	C	T	39915564	3	4	364	1	0	0	0	0	1	0	0	0	12141	681	24	4	3861	4	PLEKHG2	19	39915564	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	39915564	19213419	1902	70831	963	2									
LGALS13	29124	broad.mit.edu	37	chr19	40097949	40097949	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaagtgtcgagagatatCtccctgacctcagtgtgtgt	8	12	12	9	1	2	2	1	1	1	1	4	4	2	2	2	0	1	1	2	0	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40097949C>A	ENST00000221797.4	+	4	435	c.390C>A	c.(388-390)atC>atA	p.I130I		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	130	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	p.I130I(1)		lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CGAGAGATATCTCCCTGACCT	0.468													32	50					8.16721e-17	8.46102e-17	1	0	A	40097949	C	A	40097949	2	1	364	1	0	0	0	0	0	0	0	1	8793	903	32	2		2	LGALS13	19	40097949	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	182385	40097949	19031034	1903	70832											
DYRK1B	9149	broad.mit.edu	37	chr19	40318203	40318203	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatctccacaaggatgcAgcccagggaccacatgtcaa	12	6	10	13	0	2	0	1	0	1	0	3	2	2	2	3	2	3	2	3	2	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40318203A>C	ENST00000593685.1	-	7	1369	c.901T>G	c.(901-903)Tgc>Ggc	p.C301G	DYRK1B_ENST00000597639.1_Missense_Mutation_p.C301G|DYRK1B_ENST00000323039.5_Missense_Mutation_p.C301G|DYRK1B_ENST00000348817.3_Missense_Mutation_p.C301G|DYRK1B_ENST00000430012.2_Missense_Mutation_p.C301G			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	301	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			ACAAGGATGCAGCCCAGGGAC	0.612													4	45					0	0	0	0	C	40318203	A	C	40318203	3	2	364	1	0	0	0	0	1	0	0	0	4891	188	7	5	1008	5	DYRK1B	19	40318203	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	220254	40318203	18810780	1904	70833											
ZNF546	339327	broad.mit.edu	37	chr19	40520411	40520411	+	Missense_Mutation	SNP	C	C	T																															aaattcatactggtgaaaaaCcctacgaatgtaaagaatgt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40520411C>T	ENST00000347077.4	+	7	1450	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	ZNF546_ENST00000600094.1_Missense_Mutation_p.P386S|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGTGAAAAACCCTACGAATG	0.383													19	27					0	0	0	0	T	40520411	C	T	40520411	3	4	364	1	0	0	0	0	1	0	0	0	18073	507	18	4	1252	4	ZNF546	19	40520411	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	202208	40520411	18608572	1905	70834	964	2									
ZNF546	339327	broad.mit.edu	37	chr19	40520412	40520412	+	Missense_Mutation	SNP	C	C	T																															aattcatactggtgaaaaacCctacgaatgtaaagaatgtg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40520412C>T	ENST00000347077.4	+	7	1451	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	ZNF546_ENST00000600094.1_Missense_Mutation_p.P386L|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGTGAAAAACCCTACGAATGT	0.383													19	27					0	0	0	0	T	40520412	C	T	40520412	3	4	364	1	0	0	0	0	1	0	0	0	18073	623	22	4	1253	4	ZNF546	19	40520412	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	40520412	18608571	1906	70835	964	2									
AKT2	208	broad.mit.edu	37	chr19	40762855	40762855	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctacggagaagttgtttaaGgggggtagagtctgatcagg	10	10	17	4	1	2	3	1	1	1	2	2	4	2	3	0	5	1	4	0	5	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40762855G>A	ENST00000392038.2	-	3	451	c.153C>T	c.(151-153)ccC>ccT	p.P51P	AKT2_ENST00000311278.6_Silent_p.P51P|AKT2_ENST00000579047.1_5'UTR|AKT2_ENST00000424901.1_Silent_p.P51P	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	51	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			AGTTGTTTAAGGGGGGTAGAG	0.572			A		"ovarian, pancreatic "								11	49					0	0	0	0	A	40762855	G	A	40762855	2	1	364	1	0	0	0	0	0	0	0	1	480	987	35	4		4	AKT2	19	40762855	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	242443	40762855	18366128	1907	70836											
PRX	57716	broad.mit.edu	37	chr19	40900834	40900834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcggaggcatcctcagcCccgcgtcatggccctcagtg	6	6	12	17	3	3	0	3	0	0	0	4	1	4	1	5	3	2	1	5	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40900834C>T	ENST00000324001.7	-	7	3695	c.3425G>A	c.(3424-3426)gGg>gAg	p.G1142E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1142	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CATCCTCAGCCCCGCGTCATG	0.667													10	39					0	0	0	0	T	40900834	C	T	40900834	3	4	364	1	0	0	0	0	1	0	0	0	12721	623	22	4	964	4	PRX	19	40900834	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	137979	40900834	18228149	1908	70837											
CYP2F1	1572	broad.mit.edu	37	chr19	41622463	41622463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaggccctggtggaccaggGagaggagtttagtggccgcg	7	6	20	8	2	0	1	0	0	0	1	0	5	0	4	3	7	0	1	3	7	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:41622463G>A	ENST00000331105.2	+	3	347	c.275G>A	c.(274-276)gGa>gAa	p.G92E		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	92					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GTGGACCAGGGAGAGGAGTTT	0.587													16	50					0	0	0	0	A	41622463	G	A	41622463	3	1	364	1	0	0	0	0	1	0	0	0	4203	1174	41	2	281	2	CYP2F1	19	41622463	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	721629	41622463	17506520	1909	70838											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41809897	41809897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaaccgcagcggaggtGgtggctatagccagaaccgc	9	7	14	11	3	1	1	1	0	0	1	1	2	1	2	3	4	4	3	3	4	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:41809897G>T	ENST00000392006.3	+	13	2166	c.1993G>T	c.(1993-1995)Ggt>Tgt	p.G665C	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.G565C|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.G551C|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.G565C|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.G665C|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.G565C|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.G576C	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	665	Gly-rich.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CAGCGGAGGTGGTGGCTATAG	0.557													33	54					2.87052e-16	2.96924e-16	1	0	T	41809897	G	T	41809897	3	4	364	1	0	0	0	0	1	0	0	0	7324	1348	47	4	2043	4	HNRNPUL1	19	41809897	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	187434	41809897	17319086	1910	70839											
ARHGEF1	9138	broad.mit.edu	37	chr19	42399446	42399446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaggtgctacagaccGgaagggaggcgtggggatgc	10	4	19	8	2	0	1	0	0	0	1	0	5	0	4	2	6	4	1	2	6	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:42399446G>A	ENST00000599846.1	+	12	1027	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R268Q|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R316Q|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R301Q|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R283Q			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	301					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCTACAGACCGGAAGGGAGGC	0.607													16	69					0	0	0	0	A	42399446	G	A	42399446	3	1	364	1	0	0	0	0	1	0	0	0	895	1116	39	1	993	1	ARHGEF1	19	42399446	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	589549	42399446	16729537	1911	70840											
POU2F2	5452	broad.mit.edu	37	chr19	42598031	42598031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaacggtaaggtccccgcgCccccttggggtgtgacctga	7	7	13	14	3	0	2	0	2	0	0	1	2	1	2	5	4	1	1	5	4	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:42598031C>T	ENST00000389341.5	-	12	1166	c.1100G>A	c.(1099-1101)gGc>gAc	p.G367D	POU2F2_ENST00000560398.1_Missense_Mutation_p.G389D|POU2F2_ENST00000560558.1_Missense_Mutation_p.G328D|POU2F2_ENST00000533720.1_Missense_Mutation_p.G367D|POU2F2_ENST00000342301.4_Missense_Mutation_p.G383D|POU2F2_ENST00000529952.1_Missense_Mutation_p.G383D|POU2F2_ENST00000526816.2_Missense_Mutation_p.G383D|POU2F2_ENST00000529067.1_Missense_Mutation_p.G367D	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	383					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GGTCCCCGCGCCCCCTTGGGG	0.617													17	88					0	0	0	0	T	42598031	C	T	42598031	3	4	364	1	0	0	0	0	1	0	0	0	12343	739	26	4	303	4	POU2F2	19	42598031	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	198585	42598031	16530952	1912	70841											
CIC	23152	broad.mit.edu	37	chr19	42794462	42794462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccccactggaccctgagccCccagggcccccggatcctcc	5	4	9	23	1	0	1	0	1	0	0	2	3	2	3	9	3	1	0	9	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:42794462C>T	ENST00000572681.2	+	11	4337	c.4269C>T	c.(4267-4269)ccC>ccT	p.P1423P	CIC_ENST00000575354.2_Silent_p.P514P|CIC_ENST00000160740.3_Silent_p.P514P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCTGAGCCCCCAGGGCCCC	0.627			"Mis, F, S"		oligodendroglioma								20	65					0	0	0	0	T	42794462	C	T	42794462	2	4	364	1	0	0	0	0	0	0	0	1	3453	610	22	4		4	CIC	19	42794462	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	196431	42794462	16334521	1913	70842											
CEACAM1	634	broad.mit.edu	37	chr19	43026182	43026182	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgacactgagtagagtgagGgtcctgttgccattggacag	9	10	15	7	0	0	4	0	3	0	1	1	5	1	5	2	2	1	2	2	2	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:43026182G>A	ENST00000161559.6	-	3	731	c.597C>T	c.(595-597)acC>acT	p.T199T	LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000599389.1_Silent_p.T199T|CEACAM1_ENST00000403444.3_Silent_p.T199T|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000308072.4_Silent_p.T159T|CEACAM1_ENST00000403461.1_Silent_p.T199T|CEACAM1_ENST00000358394.3_Silent_p.T199T|CEACAM1_ENST00000352591.5_Silent_p.T199T|CEACAM1_ENST00000351134.3_Intron	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	199	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GTAGAGTGAGGGTCCTGTTGC	0.532													35	203					0	0	0	0	A	43026182	G	A	43026182	2	1	364	1	0	0	0	0	0	0	0	1	3216	1219	43	4		4	CEACAM1	19	43026182	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	231720	43026182	16102801	1914	70843											
PSG4	5672	broad.mit.edu	37	chr19	43709670	43709670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgcgctgtgtgcagggagGggctgagaggggccccatgg	6	6	21	8	1	0	1	0	1	0	1	0	4	0	2	2	6	2	3	2	6	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:43709670G>A	ENST00000405312.3	-	1	256	c.19C>T	c.(19-21)Cct>Tct	p.P7S	PSG4_ENST00000433626.2_Missense_Mutation_p.P7S|PSG4_ENST00000244295.9_Missense_Mutation_p.P7S	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	7					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTGCAGGGAGGGGCTGAGAGG	0.587													6	32					0	0	0	0	A	43709670	G	A	43709670	3	1	364	1	0	0	0	0	1	0	0	0	12736	1232	43	4	1264	4	PSG4	19	43709670	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	683488	43709670	15419313	1915	70844											
IRGC	56269	broad.mit.edu	37	chr19	44223319	44223319	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactgtgccgagcggctgcgGgaggccggcgtggctgaccc	4	5	18	14	5	0	1	0	1	0	0	0	3	0	2	3	5	3	2	3	5	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44223319G>A	ENST00000244314.5	+	2	808	c.609G>A	c.(607-609)cgG>cgA	p.R203R		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	203						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGCGGCTGCGGGAGGCCGGCG	0.701													8	52					0	0	0	0	A	44223319	G	A	44223319	2	1	364	1	0	0	0	0	0	0	0	1	7891	1219	43	4		4	IRGC	19	44223319	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	513649	44223319	14905664	1916	70845											
ZNF221	7638	broad.mit.edu	37	chr19	44466927	44466927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attcaggactctgcaaattcCctgaagtagaaggaaaaatg	16	9	9	7	0	2	2	1	1	1	1	3	4	3	4	1	2	1	2	1	2	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44466927C>T	ENST00000251269.5	+	3	377	c.49C>T	c.(49-51)Cct>Tct	p.P17S	ZNF221_ENST00000587682.1_Missense_Mutation_p.P17S|ZNF221_ENST00000592350.1_Missense_Mutation_p.P17S	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CTGCAAATTCCCTGAAGTAGA	0.403													22	53					0	0	0	0	T	44466927	C	T	44466927	3	4	364	1	0	0	0	0	1	0	0	0	17870	623	22	4	51	4	ZNF221	19	44466927	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	243608	44466927	14662056	1917	70846											
ZNF233	353355	broad.mit.edu	37	chr19	44777200	44777200	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataataaatcttcaaggcaaGaggtccaagttgctaaaaca	18	9	7	7	0	2	1	1	0	1	1	3	1	3	1	1	2	2	3	1	2	8	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44777200G>A	ENST00000391958.2	+	5	514	c.387G>A	c.(385-387)aaG>aaA	p.K129K	ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TTCAAGGCAAGAGGTCCAAGT	0.378													9	62					0	0	0	0	A	44777200	G	A	44777200	2	1	364	1	0	0	0	0	0	0	0	1	17881	933	33	2		2	ZNF233	19	44777200	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	310273	44777200	14351783	1918	70847											
ZNF285	26974	broad.mit.edu	37	chr19	44891169	44891169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccagtggacttgaagaacgGagcttgaactaaagcacttg	13	9	11	8	1	0	3	0	2	0	1	1	5	1	5	1	2	4	2	1	2	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44891169G>A	ENST00000330997.4	-	4	1302	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	ZNF285_ENST00000544719.2_Missense_Mutation_p.S413F|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.S420F	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTGAAGAACGGAGCTTGAACT	0.493													11	56					0	0	0	0	A	44891169	G	A	44891169	3	1	364	1	0	0	0	0	1	0	0	0	17917	1174	41	2	538	2	ZNF285	19	44891169	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	113969	44891169	14237814	1919	70848											
ZNF285	26974	broad.mit.edu	37	chr19	44891417	44891417	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actcgatgatggttgtgaagGgaagagctgcgcctgaagcc	10	8	15	8	2	0	4	0	3	0	1	1	6	0	5	2	2	3	2	2	2	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44891417G>A	ENST00000330997.4	-	4	1054	c.990C>T	c.(988-990)tcC>tcT	p.S330S	ZNF285_ENST00000544719.2_Silent_p.S330S|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.S337S	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GGTTGTGAAGGGAAGAGCTGC	0.478													29	93					0	0	0	0	A	44891417	G	A	44891417	2	1	364	1	0	0	0	0	0	0	0	1	17917	1219	43	4		4	ZNF285	19	44891417	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	248	44891417	14237566	1920	70849											
ZNF180	7733	broad.mit.edu	37	chr19	44981195	44981195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttataactttgactaaaGgatttcccacactgattgca	13	14	6	8	0	0	2	0	2	0	0	1	3	1	3	1	1	2	2	1	1	4	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44981195G>A	ENST00000221327.4	-	5	1784	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	ZNF180_ENST00000592529.1_Silent_p.S474S|ZNF180_ENST00000391956.4_Silent_p.S476S	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTTGACTAAAGGATTTCCCAC	0.383													23	69					0	0	0	0	A	44981195	G	A	44981195	2	1	364	1	0	0	0	0	0	0	0	1	17843	987	35	4		4	ZNF180	19	44981195	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	89778	44981195	14147788	1921	70850											
CEACAM19	56971	broad.mit.edu	37	chr19	45179627	45179627	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cattggatctcttgctgccgGggcccttctcatcagctgca	5	12	10	14	1	3	0	2	0	2	0	5	1	3	1	2	3	4	3	2	3	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45179627G>C	ENST00000358777.4	+	3	989	c.509G>C	c.(508-510)gGg>gCg	p.G170A	CEACAM19_ENST00000403660.3_Missense_Mutation_p.G170A|CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000480278.1_3'UTR	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	170						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CTTGCTGCCGGGGCCCTTCTC	0.587													27	49					0	0	0	0	C	45179627	G	C	45179627	3	2	364	1	0	0	0	0	1	0	0	0	3219	1232	43	4	519	4	CEACAM19	19	45179627	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	198432	45179627	13949356	1922	70851											
CEACAM16	388551	broad.mit.edu	37	chr19	45209024	45209024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggccctaaagaacggccaaGaccacctcaacatcagcagc	15	3	8	15	1	2	2	2	0	0	2	2	2	2	2	4	2	4	1	4	2	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45209024G>A	ENST00000587331.1	+	5	1041	c.826G>A	c.(826-828)Gac>Aac	p.D276N	CEACAM16_ENST00000405314.2_Missense_Mutation_p.D276N|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	276										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GAACGGCCAAGACCACCTCAA	0.577													19	43					0	0	0	0	A	45209024	G	A	45209024	3	1	364	1	0	0	0	0	1	0	0	0	3217	942	33	2	840	2	CEACAM16	19	45209024	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	29397	45209024	13919959	1923	70852											
CLPTM1	1209	broad.mit.edu	37	chr19	45495560	45495560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcccaccttccctggcGcatgctcacctacaaggccc	6	8	9	18	1	1	0	1	0	0	0	2	0	2	0	5	3	2	2	5	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45495560G>A	ENST00000541297.2	+	13	2048	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H	CLPTM1_ENST00000337392.5_Missense_Mutation_p.R542H|CLPTM1_ENST00000546079.1_Missense_Mutation_p.R440H			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	542					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)		CTTCCCTGGCGCATGCTCACC	0.567													4	107					0	0	0	0	A	45495560	G	A	45495560	3	1	364	1	0	0	0	0	1	0	0	0	3584	1087	38	1	1675	1	CLPTM1	19	45495560	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	286536	45495560	13633423	1924	70853											
CLPTM1	1209	broad.mit.edu	37	chr19	45496109	45496109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccagctctgccagcgagcCccaggaagcccctccaaagc	9	3	11	18	1	1	0	0	0	1	0	2	2	2	1	7	2	6	1	7	2	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45496109C>T	ENST00000541297.2	+	14	2387	c.1922C>T	c.(1921-1923)cCc>cTc	p.P641L	CLPTM1_ENST00000337392.5_Missense_Mutation_p.P655L|CLPTM1_ENST00000546079.1_Missense_Mutation_p.P553L			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	655					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)		GCCAGCGAGCCCCAGGAAGCC	0.672													8	33					0	0	0	0	T	45496109	C	T	45496109	3	4	364	1	0	0	0	0	1	0	0	0	3584	623	22	4	2018	4	CLPTM1	19	45496109	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	549	45496109	13632874	1925	70854											
TRAPPC6A	79090	broad.mit.edu	37	chr19	45681442	45681442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctcagccaccatctccGtgtgaagaaactcaaacaac	15	6	6	14	1	3	2	2	1	1	1	4	2	3	2	3	0	5	1	3	0	4	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45681442G>A	ENST00000006275.4	-	1	53	c.35C>T	c.(34-36)aCg>aTg	p.T12M	TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.T12M|TRAPPC6A_ENST00000585934.1_Missense_Mutation_p.T12M|TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.T12M	NM_024108.1	NP_077013.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	12					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		CACCATCTCCGTGTGAAGAAA	0.652													11	51					0	0	0	0	A	45681442	G	A	45681442	3	1	364	1	0	0	0	0	1	0	0	0	16558	1145	40	1	510	1	TRAPPC6A	19	45681442	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	185333	45681442	13447541	1926	70855											
ERCC2	2068	broad.mit.edu	37	chr19	45856009	45856009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagagctactcaccttgaGaatgcggctctgtgtgtaga	10	10	12	9	1	2	3	1	1	1	3	2	5	2	3	1	1	3	3	1	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45856009G>A	ENST00000391945.4	-	20	1974	c.1897C>T	c.(1897-1899)Ctc>Ttc	p.L633F	ERCC2_ENST00000391944.3_Missense_Mutation_p.L555F	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	633	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCTTGAGAATGCGGCTC	0.612			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				27	32					0	0	0	0	A	45856009	G	A	45856009	3	1	364	1	0	0	0	0	1	0	0	0	5251	942	33	2	401	2	ERCC2	19	45856009	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	174567	45856009	13272974	1927	70856											
PPP1R13L	10848	broad.mit.edu	37	chr19	45885876	45885876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccgtccctccgcagcacgGtgaccgactcgccctcgcgg	4	5	12	20	7	0	1	0	1	0	0	4	2	2	1	5	2	1	2	5	2	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45885876G>A	ENST00000418234.2	-	12	2435	c.2357C>T	c.(2356-2358)aCc>aTc	p.T786I	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.T786I	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	786	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCGCAGCACGGTGACCGACTC	0.687													6	26					0	0	0	0	A	45885876	G	A	45885876	3	1	364	1	0	0	0	0	1	0	0	0	12434	1261	44	4	137	4	PPP1R13L	19	45885876	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	29867	45885876	13243107	1928	70857											
EML2	24139	broad.mit.edu	37	chr19	46137675	46137675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccacaaagtacactatctcCccggtgggcagcaaataaag	14	6	9	12	1	1	0	0	0	1	0	2	0	1	0	3	2	2	3	3	2	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:46137675C>T	ENST00000536630.1	-	7	813	c.675G>A	c.(673-675)ggG>ggA	p.G225G	EML2_ENST00000245925.3_Silent_p.G78G|EML2_ENST00000589876.1_Silent_p.G78G|EML2_ENST00000587152.1_Silent_p.G279G	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	78					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACACTATCTCCCCGGTGGGCA	0.557													9	23					0	0	0	0	T	46137675	C	T	46137675	2	4	364	1	0	0	0	0	0	0	0	1	5135	610	22	4		4	EML2	19	46137675	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	251799	46137675	12991308	1929	70858											
RSPH6A	81492	broad.mit.edu	37	chr19	46318152	46318152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgaggctggaactctgaggGaaagcccgtgttcacagatg	10	8	14	9	1	2	3	1	2	1	1	2	5	2	5	1	3	2	2	1	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:46318152G>A	ENST00000221538.3	-	1	425	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	RSPH6A_ENST00000597055.1_Missense_Mutation_p.P95S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	95						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						AACTCTGAGGGAAAGCCCGTG	0.602													8	37					0	0	0	0	A	46318152	G	A	46318152	3	1	364	1	0	0	0	0	1	0	0	0	13792	1174	41	2	1894	2	RSPH6A	19	46318152	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	180477	46318152	12810831	1930	70859											
STRN4	29888	broad.mit.edu	37	chr19	47231181	47231181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccggggctggggtgtgccagGaggcgggccagtcacttttg	4	8	19	10	2	1	0	1	0	0	0	1	1	1	1	3	7	1	1	3	7	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47231181G>A	ENST00000391910.3	-	8	1573	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	STRN4_ENST00000539396.1_Missense_Mutation_p.P256S|STRN4_ENST00000263280.6_Missense_Mutation_p.P375S|STRN4_ENST00000594357.2_5'UTR			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	375						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGTGTGCCAGGAGGCGGGCCA	0.662													12	39					0	0	0	0	A	47231181	G	A	47231181	3	1	364	1	0	0	0	0	1	0	0	0	15421	1174	41	2	1199	2	STRN4	19	47231181	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	913029	47231181	11897802	1931	70860											
ARHGAP35	2909	broad.mit.edu	37	chr19	47503696	47503696	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actatggacgccctcacagcCacgcgcacctaccagacaat	12	5	7	17	3	1	1	1	0	0	1	1	2	1	2	4	1	2	1	4	1	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47503696C>A	ENST00000404338.3	+	6	4251	c.4251C>A	c.(4249-4251)gcC>gcA	p.A1417A		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1417	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CCCTCACAGCCACGCGCACCT	0.557													49	176					6.14515e-18	6.36865e-18	1	0	A	47503696	C	A	47503696	2	1	364	1	0	0	0	0	0	0	0	1	6845	581	21	4		4	ARHGAP35	19	47503696	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	272515	47503696	11625287	1932	70861											
ARHGAP35	2909	broad.mit.edu	37	chr19	47503753	47503753	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagtgccccttcttcttCtacaatcggcccatcaccga	8	10	6	17	2	4	0	1	0	3	0	5	1	4	0	4	1	3	1	4	1	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47503753C>T	ENST00000404338.3	+	6	4308	c.4308C>T	c.(4306-4308)ttC>ttT	p.F1436F		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1436	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CCTTCTTCTTCTACAATCGGC	0.597													22	101					0	0	0	0	T	47503753	C	T	47503753	2	4	364	1	0	0	0	0	0	0	0	1	6845	912	32	2		2	ARHGAP35	19	47503753	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	57	47503753	11625230	1933	70862											
ZC3H4	23211	broad.mit.edu	37	chr19	47570606	47570606	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccagagcacggtgcgggcGaagctgggcttgctcagggt	6	8	17	10	3	1	1	1	0	0	1	2	2	2	1	1	4	4	4	1	4	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47570606G>A	ENST00000253048.5	-	15	2956	c.2919C>T	c.(2917-2919)ttC>ttT	p.F973F	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	973							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CGGTGCGGGCGAAGCTGGGCT	0.677													29	122					0	0	0	0	A	47570606	G	A	47570606	2	1	364	1	0	0	0	0	0	0	0	1	17665	1049	37	1		1	ZC3H4	19	47570606	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	66853	47570606	11558377	1934	70863											
ZC3H4	23211	broad.mit.edu	37	chr19	47597293	47597293	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactggggctgaaatccgaGtcatctgagaagtcagagaa	13	8	12	8	1	4	3	3	2	1	2	5	6	5	3	1	2	0	1	1	2	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47597293G>A	ENST00000253048.5	-	4	463	c.426C>T	c.(424-426)gaC>gaT	p.D142D	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	142							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGAAATCCGAGTCATCTGAGA	0.572													47	53					0	0	0	0	A	47597293	G	A	47597293	2	1	364	1	0	0	0	0	0	0	0	1	17665	1020	36	4		4	ZC3H4	19	47597293	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	26687	47597293	11531690	1935	70864											
GLTSCR2	29997	broad.mit.edu	37	chr19	48255849	48255849	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttcctacaatccatcCtttgaagaccaccaggtaca	12	9	7	13	0	0	2	0	1	0	1	3	3	3	3	5	2	3	2	5	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:48255849C>T	ENST00000246802.5	+	6	788	c.750C>T	c.(748-750)tcC>tcT	p.S250S	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	250						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACAATCCATCCTTTGAAGACC	0.647													12	34					0	0	0	0	T	48255849	C	T	48255849	2	4	364	1	0	0	0	0	0	0	0	1	6526	668	24	4		4	GLTSCR2	19	48255849	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	658556	48255849	10873134	1936	70865											
BCAT2	587	broad.mit.edu	37	chr19	49310269	49310269	+	Silent	SNP	G	G	A																															cctttcaccttgaaactggaGgaggcatatcttctgggacc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49310269G>A	ENST00000316273.6	-	2	99	c.87C>T	c.(85-87)tcC>tcT	p.S29S	BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000599246.1_Intron|BCAT2_ENST00000597011.1_5'UTR|BCAT2_ENST00000402551.1_5'UTR|BCAT2_ENST00000598162.1_Silent_p.S29S|BCAT2_ENST00000601496.1_Intron	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	29						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TGAAACTGGAGGAGGCATATC	0.562													6	48					0	0	0	0	A	49310269	G	A	49310269	2	1	364	1	0	0	0	0	0	0	0	1	1359	987	35	4		4	BCAT2	19	49310269	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1054420	49310269	9818714	1937	70866	965	2									
BCAT2	587	broad.mit.edu	37	chr19	49310270	49310270	+	Missense_Mutation	SNP	G	G	A																															ctttcaccttgaaactggagGaggcatatcttctgggacca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49310270G>A	ENST00000316273.6	-	2	98	c.86C>T	c.(85-87)tCc>tTc	p.S29F	BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000599246.1_Intron|BCAT2_ENST00000597011.1_5'UTR|BCAT2_ENST00000402551.1_5'UTR|BCAT2_ENST00000598162.1_Missense_Mutation_p.S29F|BCAT2_ENST00000601496.1_5'UTR	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	29						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GAAACTGGAGGAGGCATATCT	0.567													6	48					0	0	0	0	A	49310270	G	A	49310270	3	1	364	1	0	0	0	0	1	0	0	0	1359	1174	41	2	1132	2	BCAT2	19	49310270	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	49310270	9818713	1938	70867	965	2									
TULP2	7288	broad.mit.edu	37	chr19	49387077	49387077	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggagaatcacagtcattttCcgaggccccaggtatcctaa	11	9	10	11	1	2	1	2	0	0	1	4	3	4	1	4	3	0	1	4	3	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49387077C>T	ENST00000221399.3	-	11	1353	c.1209G>A	c.(1207-1209)cgG>cgA	p.R403R		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	403					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CAGTCATTTTCCGAGGCCCCA	0.512													26	87					0	0	0	0	T	49387077	C	T	49387077	2	4	364	1	0	0	0	0	0	0	0	1	16870	842	30	2		2	TULP2	19	49387077	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	76807	49387077	9741906	1939	70868											
RUVBL2	10856	broad.mit.edu	37	chr19	49514284	49514284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggagatcaagtcagaagtCcgtgagcagatcaatgccaa	14	6	13	8	1	3	4	3	1	0	3	4	5	4	4	2	2	2	1	2	2	4	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49514284C>T	ENST00000413176.2	+	10	1829	c.681C>T	c.(679-681)gtC>gtT	p.V227V	RUVBL2_ENST00000601968.1_Silent_p.V227V|RUVBL2_ENST00000595090.1_Silent_p.V272V			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	272					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		AGTCAGAAGTCCGTGAGCAGA	0.622													6	37					0	0	0	0	T	49514284	C	T	49514284	2	4	364	1	0	0	0	0	0	0	0	1	13838	842	30	2		2	RUVBL2	19	49514284	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	127207	49514284	9614699	1940	70869											
CGB1	114335	broad.mit.edu	37	chr19	49539417	49539417	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggggcagtagccggcacaGatggtggtgttgacggtgat	7	9	19	6	2	0	3	0	2	0	1	0	3	0	3	1	6	1	4	1	6	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49539417G>A	ENST00000301407.7	-	2	257	c.153C>T	c.(151-153)atC>atT	p.I51I	CGB1_ENST00000391869.3_Silent_p.I51I|CTB-60B18.6_ENST00000591656.1_Intron	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	83						extracellular region	hormone activity			liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		AGCCGGCACAGATGGTGGTGT	0.687													23	141					0	0	0	0	A	49539417	G	A	49539417	2	1	364	1	0	0	0	0	0	0	0	1	3326	932	33	2		2	CGB1	19	49539417	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	25133	49539417	9589566	1941	70870											
SLC6A16	28968	broad.mit.edu	37	chr19	49812599	49812599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggccaaattttgccccttCcaggagtagagtccggatga	11	9	11	10	1	0	2	0	1	0	1	2	4	2	4	5	3	1	1	5	3	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49812599C>T	ENST00000454748.3	-	6	1147	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	SLC6A16_ENST00000335875.4_Missense_Mutation_p.E316K			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	316						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TTTGCCCCTTCCAGGAGTAGA	0.507													6	37					0	0	0	0	T	49812599	C	T	49812599	3	4	364	1	0	0	0	0	1	0	0	0	14767	864	30	2	1292	2	SLC6A16	19	49812599	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	273182	49812599	9316384	1942	70871											
SLC6A16	28968	broad.mit.edu	37	chr19	49814231	49814231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggcaaagcgccagagaCaagatggcttcatagagaag	15	5	14	7	1	1	3	1	0	0	3	1	5	1	3	1	3	1	3	1	3	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49814231C>A	ENST00000454748.3	-	2	575	c.374G>T	c.(373-375)tGt>tTt	p.C125F	SLC6A16_ENST00000335875.4_Missense_Mutation_p.C125F			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	125						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GCGCCAGAGACAAGATGGCTT	0.537													23	67					2.21704e-12	2.27502e-12	1	0	A	49814231	C	A	49814231	3	1	364	1	0	0	0	0	1	0	0	0	14767	478	17	4	1880	4	SLC6A16	19	49814231	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1632	49814231	9314752	1943	70872											
PRR12	57479	broad.mit.edu	37	chr19	50099247	50099247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggtggctggggacccagctCcctgggaggcggcggtgagg	4	5	22	10	2	0	1	0	1	0	0	1	3	1	3	2	9	1	2	2	9	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50099247C>T	ENST00000418929.2	+	4	1667	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	325	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)		GGACCCAGCTCCCTGGGAGGC	0.711													5	57					0	0	0	0	T	50099247	C	T	50099247	3	4	364	1	0	0	0	0	1	0	0	0	12664	855	30	2	1669	2	PRR12	19	50099247	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	285016	50099247	9029736	1944	70873											
TBC1D17	79735	broad.mit.edu	37	chr19	50390808	50390808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagggaattccccttccCggatgtccttcggctgtggg	6	10	13	12	2	0	1	0	0	0	1	4	3	3	3	4	4	0	1	4	4	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50390808C>T	ENST00000221543.5	+	14	1819	c.1520C>T	c.(1519-1521)cCg>cTg	p.P507L	TBC1D17_ENST00000535102.2_Missense_Mutation_p.P474L	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	507	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TTCCCCTTCCCGGATGTCCTT	0.632													13	30					0	0	0	0	T	50390808	C	T	50390808	3	4	364	1	0	0	0	0	1	0	0	0	15697	652	23	1	1574	1	TBC1D17	19	50390808	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	291561	50390808	8738175	1945	70874											
ATF5	22809	broad.mit.edu	37	chr19	50434207	50434207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgggaaactccccccggccCctgcccccctggctccctat	5	7	8	21	1	0	0	0	0	0	0	2	1	2	1	9	3	2	1	9	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50434207C>T	ENST00000423777.2	+	2	477	c.100C>T	c.(100-102)Cct>Tct	p.P34S	ATF5_ENST00000600336.1_Missense_Mutation_p.P34S|CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.P34S	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	34					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCCCCCGGCCCCTGCCCCCCT	0.687													3	14					0	0	0	0	T	50434207	C	T	50434207	3	4	364	1	0	0	0	0	1	0	0	0	1087	623	22	4	102	4	ATF5	19	50434207	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	43399	50434207	8694776	1946	70875											
MYH14	79784	broad.mit.edu	37	chr19	50780155	50780155	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagcagctggagcaggcccgGagggtgggttggggcagggg	6	4	24	7	1	0	0	0	0	0	0	0	3	0	2	1	9	3	5	1	9	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50780155G>A	ENST00000440075.2	+	29	3869	c.3822G>A	c.(3820-3822)cgG>cgA	p.R1274R	MYH14_ENST00000596571.1_Silent_p.R1233R|MYH14_ENST00000425460.1_Silent_p.R1241R|MYH14_ENST00000376970.2_Silent_p.R1266R|MYH14_ENST00000262269.8_Silent_p.R1274R|MYH14_ENST00000601313.1_Silent_p.R1274R|MYH14_ENST00000598205.1_Silent_p.R1241R			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1233					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGCAGGCCCGGagggtgggtt	0.726													5	28					0	0	0	0	A	50780155	G	A	50780155	2	1	364	1	0	0	0	0	0	0	0	1	10103	1161	41	2		2	MYH14	19	50780155	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	345948	50780155	8348828	1947	70876											
SPIB	6689	broad.mit.edu	37	chr19	50926874	50926874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccgcagaccctggttcccCcggcatatgccccgtacccc	5	8	8	20	3	0	1	0	0	0	1	2	1	2	1	8	2	2	4	8	2	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50926874C>T	ENST00000595883.1	+	5	377	c.352C>T	c.(352-354)Ccg>Tcg	p.P118S	SPIB_ENST00000270632.7_Missense_Mutation_p.P118S|SPIB_ENST00000596074.1_Missense_Mutation_p.P46L|SPIB_ENST00000597855.1_Intron|SPIB_ENST00000439922.2_Missense_Mutation_p.P27S	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	118					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTGGTTCCCCCGGCATATGC	0.647													6	23					0	0	0	0	T	50926874	C	T	50926874	3	4	364	1	0	0	0	0	1	0	0	0	15140	623	22	4	370	4	SPIB	19	50926874	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	146719	50926874	8202109	1948	70877											
MYBPC2	4606	broad.mit.edu	37	chr19	50957535	50957535	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcagatgtcccagacccCccggaggctgtgcgcatcac	7	6	11	17	2	1	2	1	0	0	2	2	3	2	3	5	2	2	3	5	2	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50957535C>T	ENST00000357701.5	+	18	1974	c.1923C>T	c.(1921-1923)ccC>ccT	p.P641P		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	641	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCCCAGACCCCCCGGAGGCTG	0.652													4	61					0	0	0	0	T	50957535	C	T	50957535	2	4	364	1	0	0	0	0	0	0	0	1	10082	610	22	4		4	MYBPC2	19	50957535	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	30661	50957535	8171448	1949	70878											
LRRC4B	94030	broad.mit.edu	37	chr19	51051874	51051874	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggacctcggccaggtctctCcgtgtgcagatcacccggct	5	8	13	15	3	2	1	1	0	1	1	5	2	3	2	4	4	1	2	4	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51051874C>T	ENST00000599957.1	-	2	419	c.222G>A	c.(220-222)cgG>cgA	p.R74R	LRRC4B_ENST00000389201.3_Silent_p.R74R			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	74	LRRNT.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCAGGTCTCTCCGTGTGCAGA	0.706													3	12					0	0	0	0	T	51051874	C	T	51051874	2	4	364	1	0	0	0	0	0	0	0	1	9071	842	30	2		2	LRRC4B	19	51051874	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	94339	51051874	8077109	1950	70879											
SYT3	84258	broad.mit.edu	37	chr19	51133093	51133093	+	Missense_Mutation	SNP	G	G	A																															gcaggtagatcttgacgtagGggtctgagaagccgttggag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51133093G>A	ENST00000338916.4	-	3	1643	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	SYT3_ENST00000593901.1_Missense_Mutation_p.P337L|SYT3_ENST00000600079.1_Missense_Mutation_p.P337L|SYT3_ENST00000544769.1_Missense_Mutation_p.P337L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	337	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTTGACGTAGGGGTCTGAGAA	0.612													14	110					0	0	0	0	A	51133093	G	A	51133093	3	1	364	1	0	0	0	0	1	0	0	0	15566	1232	43	4	786	4	SYT3	19	51133093	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	81219	51133093	7995890	1951	70880	966	2									
SYT3	84258	broad.mit.edu	37	chr19	51133094	51133094	+	Missense_Mutation	SNP	G	G	A																															caggtagatcttgacgtaggGgtctgagaagccgttggagt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51133094G>A	ENST00000338916.4	-	3	1642	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	SYT3_ENST00000593901.1_Missense_Mutation_p.P337S|SYT3_ENST00000600079.1_Missense_Mutation_p.P337S|SYT3_ENST00000544769.1_Missense_Mutation_p.P337S	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	337	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTGACGTAGGGGTCTGAGAAG	0.612													14	108					0	0	0	0	A	51133094	G	A	51133094	3	1	364	1	0	0	0	0	1	0	0	0	15566	1232	43	4	787	4	SYT3	19	51133094	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	51133094	7995889	1952	70881	966	2									
SYT3	84258	broad.mit.edu	37	chr19	51133335	51133335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttcctcgcctccaggcagGggtaagggcagggcaggtgg	6	8	17	10	1	0	0	0	0	0	0	3	0	2	0	3	7	0	4	3	7	1	3	rs144661464	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51133335G>A	ENST00000338916.4	-	3	1401	c.768C>T	c.(766-768)ccC>ccT	p.P256P	SYT3_ENST00000593901.1_Silent_p.P256P|SYT3_ENST00000600079.1_Silent_p.P256P|SYT3_ENST00000544769.1_Silent_p.P256P	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	256						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTCCAGGCAGGGGTAAGGGCA	0.677													10	53					0	0	0	0	A	51133335	G	A	51133335	2	1	364	1	0	0	0	0	0	0	0	1	15566	1219	43	4		4	SYT3	19	51133335	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	241	51133335	7995648	1953	70882											
KLK1	3816	broad.mit.edu	37	chr19	51322539	51322539	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttattgggggtgccacaagGgacgtagccccatgatgtga	9	9	14	9	1	0	2	0	2	0	0	0	3	0	3	3	3	2	1	3	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51322539G>C	ENST00000448701.2	-	6	1718	c.394C>G	c.(394-396)Cct>Gct	p.P132A	KLK1_ENST00000301420.2_Missense_Mutation_p.P234A			P06870	KLK1_HUMAN	kallikrein 1	234	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGCCACAAGGGACGTAGCCC	0.582													19	96					0	0	0	0	C	51322539	G	C	51322539	3	2	364	1	0	0	0	0	1	0	0	0	8449	1232	43	4	92	4	KLK1	19	51322539	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	189204	51322539	7806444	1954	70883											
KLK3	354	broad.mit.edu	37	chr19	51361525	51361525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acccaggagccagcactgggGaccacctgctacgcctcagg	9	4	12	16	1	1	0	1	0	0	0	1	2	1	2	5	4	4	2	5	4	1	1	rs147547638	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51361525G>A	ENST00000360617.3	+	3	447	c.447G>A	c.(445-447)ggG>ggA	p.G149G	KLK3_ENST00000593997.1_Silent_p.G149G|KLK3_ENST00000597483.1_Silent_p.G106G|KLK3_ENST00000326003.2_Silent_p.G149G|KLK3_ENST00000595952.1_Silent_p.G106G			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	149	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CAGCACTGGGGACCACCTGCT	0.652													29	37					0	0	0	0	A	51361525	G	A	51361525	2	1	364	1	0	0	0	0	0	0	0	1	8457	1161	41	2		2	KLK3	19	51361525	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	38986	51361525	7767458	1955	70884											
KLK13	26085	broad.mit.edu	37	chr19	51563854	51563854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccattggtgttgagaacCttggaagactcctgggagac	9	10	13	9	0	0	3	0	1	0	3	2	6	2	4	3	3	1	1	3	3	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51563854C>T	ENST00000595793.1	-	2	117	c.75G>A	c.(73-75)aaG>aaA	p.K25K	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Silent_p.K25K|KLK13_ENST00000595547.1_Silent_p.K25K	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	25					proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TGTTGAGAACCTTGGAAGACT	0.577													64	109					0	0	0	0	T	51563854	C	T	51563854	2	4	364	1	0	0	0	0	0	0	0	1	8453	680	24	4		4	KLK13	19	51563854	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	202329	51563854	7565129	1956	70885											
SIGLEC10	89790	broad.mit.edu	37	chr19	51918579	51918579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggggctcagaacctgtcCcctctgggtccagctcagcc	6	7	13	15	0	3	1	2	0	1	1	5	2	5	2	5	4	3	2	5	4	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51918579C>T	ENST00000353836.5	-	7	1407	c.1186G>A	c.(1186-1188)Gga>Aga	p.G396R	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G248R|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G306R|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G338R|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G338R|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G348R|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G396R|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G396R|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G313R	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	396	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGAACCTGTCCCCTCTGGGTC	0.657													19	42					0	0	0	0	T	51918579	C	T	51918579	3	4	364	1	0	0	0	0	1	0	0	0	14394	632	22	4	927	4	SIGLEC10	19	51918579	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	354725	51918579	7210404	1957	70886											
SIGLEC10	89790	broad.mit.edu	37	chr19	51919992	51919992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccacatggcaggtgaggtCggtgttgtggtcctggggtc	4	11	18	8	1	0	1	0	1	0	0	4	1	2	1	2	7	0	2	2	7	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51919992C>T	ENST00000353836.5	-	3	855	c.634G>A	c.(634-636)Gac>Aac	p.D212N	CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.D154N|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.D212N|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.D154N|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.D154N|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.D164N|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.D212N|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.D212N|SIGLEC10_ENST00000432469.2_Intron	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	212	Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CAGGTGAGGTCGGTGTTGTGG	0.632													26	32					0	0	0	0	T	51919992	C	T	51919992	3	4	364	1	0	0	0	0	1	0	0	0	14394	884	31	1	1495	1	SIGLEC10	19	51919992	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1413	51919992	7208991	1958	70887											
FPR2	2358	broad.mit.edu	37	chr19	52272633	52272633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaatccagccgtcccttacGggtcctcactgctgtggtgg	6	11	11	13	2	1	0	1	0	0	0	4	0	4	0	4	3	3	1	4	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52272633G>A	ENST00000598776.1	+	2	1494	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	FPR2_ENST00000340023.6_Missense_Mutation_p.R241Q|FPR2_ENST00000598953.1_Missense_Mutation_p.R241Q	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	241					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CGTCCCTTACGGGTCCTCACT	0.493													11	64					0	0	0	0	A	52272633	G	A	52272633	3	1	364	1	0	0	0	0	1	0	0	0	6086	1116	39	1	724	1	FPR2	19	52272633	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	352641	52272633	6856350	1959	70888											
FPR3	2359	broad.mit.edu	37	chr19	52327767	52327767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttcttcatctgttggttcCcttatgaactaattggcatt	7	19	6	9	0	3	1	1	1	2	0	4	1	4	1	1	2	1	3	1	2	3	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52327767C>T	ENST00000339223.4	+	2	945	c.766C>T	c.(766-768)Cct>Tct	p.P256S	FPR3_ENST00000595991.1_Missense_Mutation_p.P256S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	256					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTGTTGGTTCCCTTATGAACT	0.423													16	95					0	0	0	0	T	52327767	C	T	52327767	3	4	364	1	0	0	0	0	1	0	0	0	6087	623	22	4	768	4	FPR3	19	52327767	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	55134	52327767	6801216	1960	70889											
ZNF577	84765	broad.mit.edu	37	chr19	52376138	52376138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttttctcatgtttaatgaGgactgacatgtgggcaaagg	11	13	12	5	0	1	2	1	2	1	0	2	3	1	3	0	3	0	3	0	3	2	4	rs139133866		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52376138G>A	ENST00000420592.1	-	6	2261	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.L369F|ZNF577_ENST00000451628.2_Missense_Mutation_p.L310F			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTTTAATGAGGACTGACATG	0.448													35	99					0	0	0	0	A	52376138	G	A	52376138	3	1	364	1	0	0	0	0	1	0	0	0	18104	1000	35	4	356	4	ZNF577	19	52376138	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	48371	52376138	6752845	1961	70890											
ZNF615	284370	broad.mit.edu	37	chr19	52496734	52496734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttctctcctgtatgagttCgttgatgtcccattagccgg	5	16	10	10	2	1	2	0	2	1	0	5	2	3	2	3	1	1	4	3	1	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52496734C>T	ENST00000602063.1	-	6	1944	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	ZNF615_ENST00000598071.1_Missense_Mutation_p.R543Q|ZNF615_ENST00000376716.5_Missense_Mutation_p.R532Q|ZNF615_ENST00000391795.3_Missense_Mutation_p.R537Q|ZNF615_ENST00000594083.1_Missense_Mutation_p.R543Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R543Q(2)|p.R532Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTATGAGTTCGTTGATGTCC	0.443													25	160					0	0	0	0	T	52496734	C	T	52496734	3	4	364	1	0	0	0	0	1	0	0	0	18135	884	31	1	604	1	ZNF615	19	52496734	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	120596	52496734	6632249	1962	70891											
ZNF578	147660	broad.mit.edu	37	chr19	53015077	53015077	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataattcatactggagagaaAccttacaagtgtaatgagtg	16	11	9	5	0	1	2	1	1	0	1	1	4	1	3	1	1	3	1	1	1	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53015077A>G	ENST00000421239.2	+	6	1687	c.1443A>G	c.(1441-1443)aaA>aaG	p.K481K	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CTGGAGAGAAACCTTACAAGT	0.388													30	90					0	0	0	0	G	53015077	A	G	53015077	2	3	364	1	0	0	0	0	0	0	0	1	18105	40	2	5		5	ZNF578	19	53015077	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	518343	53015077	6113906	1963	70892											
ZNF808	388558	broad.mit.edu	37	chr19	53050850	53050850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagagggctttgtacaGggaagtgatgttggagaact	11	10	15	5	0	0	3	0	1	0	2	0	5	0	4	0	3	3	4	0	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53050850G>T	ENST00000359798.4	+	4	329	c.149G>T	c.(148-150)aGg>aTg	p.R50M		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GCTTTGTACAGGGAAGTGATG	0.483													27	241					1.77063e-15	1.82873e-15	1	0	T	53050850	G	T	53050850	3	4	364	1	0	0	0	0	1	0	0	0	18266	1000	35	4	155	4	ZNF808	19	53050850	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	35773	53050850	6078133	1964	70893											
ZNF320	162967	broad.mit.edu	37	chr19	53383907	53383907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacaattgtctccaaaaGgaattttctgatgttctgca	13	14	7	7	0	3	2	0	2	3	0	4	3	3	3	1	1	2	2	1	1	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53383907G>A	ENST00000595635.1	-	8	1973	c.1472C>T	c.(1471-1473)cCt>cTt	p.P491L	ZNF320_ENST00000391781.2_Missense_Mutation_p.P491L|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GTCTCCAAAAGGAATTTTCTG	0.393													9	87					0	0	0	0	A	53383907	G	A	53383907	3	1	364	1	0	0	0	0	1	0	0	0	17934	1000	35	4	61	4	ZNF320	19	53383907	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	333057	53383907	5745076	1965	70894											
ZNF415	55786	broad.mit.edu	37	chr19	53625965	53625965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctcctcttctgggtttcttCctcatgtgccaggagtcttt	3	18	8	12	0	6	0	1	0	5	0	8	1	7	1	3	2	1	1	3	2	0	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53625965C>T	ENST00000601215.1	-	3	273	c.258G>A	c.(256-258)agG>agA	p.R86R	ZNF415_ENST00000600574.1_5'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000594011.1_5'UTR|ZNF415_ENST00000500065.4_Intron|ZNF415_ENST00000455735.2_5'UTR|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000595813.1_Intron|ZNF415_ENST00000421033.1_5'UTR|ZNF415_ENST00000243643.4_5'UTR|ZNF415_ENST00000599261.1_Intron|ZNF415_ENST00000597503.1_5'UTR|ZNF415_ENST00000595193.1_5'UTR|ZNF415_ENST00000597748.1_5'UTR|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000448501.1_5'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGGGTTTCTTCCTCATGTGCC	0.438													65	204					0	0	0	0	T	53625965	C	T	53625965	2	4	364	1	0	0	0	0	0	0	0	1	17987	870	30	2		2	ZNF415	19	53625965	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	242058	53625965	5503018	1966	70895											
ZNF665	79788	broad.mit.edu	37	chr19	53668984	53668984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctctccagtatgaattctCtgatgacctgcaaggtttga	9	15	8	9	0	2	4	0	4	2	0	5	4	3	4	2	1	1	3	2	1	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53668984C>T	ENST00000600412.1	-	2	679	c.564G>A	c.(562-564)caG>caA	p.Q188Q	ZNF665_ENST00000396424.3_Silent_p.Q253Q			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TATGAATTCTCTGATGACCTG	0.403													26	172					0	0	0	0	T	53668984	C	T	53668984	2	4	364	1	0	0	0	0	0	0	0	1	18168	912	32	2		2	ZNF665	19	53668984	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	43019	53668984	5459999	1967	70896											
ZNF765	91661	broad.mit.edu	37	chr19	53911563	53911563	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgatatatgtggcaaggtctTtaattcgaagcgatacgttg	11	13	11	6	4	1	0	0	0	1	0	2	3	1	0	0	2	2	2	0	2	6	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53911563T>A	ENST00000396408.3	+	4	872	c.755T>A	c.(754-756)tTt>tAt	p.F252Y	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GGCAAGGTCTTTAATTCGAAG	0.403													16	137					0	0	0	0	A	53911563	T	A	53911563	3	1	364	1	0	0	0	0	1	0	0	0	18233	1841	64	5	765	5	ZNF765	19	53911563	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	242579	53911563	5217420	1968	70897											
ZNF761	388561	broad.mit.edu	37	chr19	53945927	53945927	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgcctgaggccagcctgcCcgaagctgacctttacctga	7	9	10	15	1	1	3	0	3	1	0	1	4	1	3	6	1	5	1	6	1	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53945927C>T	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GCCAGCCTGCCCGAAGCTGAC	0.557													36	24					0	0	0	0	T	53945927	C	T	53945927	1	4	364	0	1	0	0	0	0	0	0	0	18230	638	22	4		4	ZNF761	19	53945927	RNA	SNP	C	TCGA-D6-6516-01A-11D-1870-08	34364	53945927	5183056	1969	70898											
NLRP12	91662	broad.mit.edu	37	chr19	54327227	54327227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagagccaacctccaggcctCctctggcccgaagtgggtga	8	6	13	14	1	1	2	0	1	1	1	3	4	3	2	6	3	2	0	6	3	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54327227C>T	ENST00000324134.6	-	1	370	c.202G>A	c.(202-204)Gag>Aag	p.E68K	NLRP12_ENST00000351894.4_Missense_Mutation_p.E68K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E68K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E68K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E68K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E68K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E68K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E68K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	68	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTCCAGGCCTCCTCTGGCCCG	0.617													26	156					0	0	0	0	T	54327227	C	T	54327227	3	4	364	1	0	0	0	0	1	0	0	0	10544	864	30	2	3119	2	NLRP12	19	54327227	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	381300	54327227	4801756	1970	70899											
PRKCG	5582	broad.mit.edu	37	chr19	54394978	54394978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accccaatggtctctctgatCcctatgtgaaactgaagctc	10	11	7	13	0	2	3	0	3	2	0	5	3	3	3	3	1	2	1	3	1	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54394978C>T	ENST00000263431.3	+	6	862	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	PRKCG_ENST00000542049.1_Missense_Mutation_p.P81S|PRKCG_ENST00000540413.1_Missense_Mutation_p.P194S|PRKCG_ENST00000536044.1_Missense_Mutation_p.P194S	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	194	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TCTCTCTGATCCCTATGTGAA	0.532													74	164					0	0	0	0	T	54394978	C	T	54394978	3	4	364	1	0	0	0	0	1	0	0	0	12592	855	30	2	602	2	PRKCG	19	54394978	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	67751	54394978	4734005	1971	70900											
CACNG7	59284	broad.mit.edu	37	chr19	54444857	54444857	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccttcgccgcttcctccttCctactcaaagaggtgacgtc	6	11	8	16	3	1	2	1	1	0	1	6	2	4	2	5	1	1	1	5	1	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54444857C>T	ENST00000391767.1	+	5	770	c.558C>T	c.(556-558)ttC>ttT	p.F186F	CACNG7_ENST00000222212.2_Silent_p.F186F|CACNG7_ENST00000391766.1_Silent_p.F186F			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	186					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTTCCTCCTTCCTACTCAAAG	0.547													39	108					0	0	0	0	T	54444857	C	T	54444857	2	4	364	1	0	0	0	0	0	0	0	1	2587	854	30	2		2	CACNG7	19	54444857	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	49879	54444857	4684126	1972	70901											
LILRB5	10990	broad.mit.edu	37	chr19	54760510	54760510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctcttccgggcccatGggagtccctccttatccaga	5	12	9	15	1	2	1	0	0	2	1	7	2	6	2	5	2	0	0	5	2	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54760510G>A	ENST00000450632.1	-	3	274	c.197C>T	c.(196-198)cCa>cTa	p.P66L	LILRB5_ENST00000449561.2_Missense_Mutation_p.P66L|LILRB5_ENST00000345866.6_Missense_Mutation_p.P66L|LILRB5_ENST00000316219.5_Missense_Mutation_p.P66L			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	66	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCGGGCCCATGGGAGTCCCTC	0.617													95	118					0	0	0	0	A	54760510	G	A	54760510	3	1	364	1	0	0	0	0	1	0	0	0	8848	1348	47	4	1622	4	LILRB5	19	54760510	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	315653	54760510	4368473	1973	70902											
LILRA3	11026	broad.mit.edu	37	chr19	54802615	54802615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttggcctgggagagccCagcctggggctgccggccag	6	5	18	12	1	0	1	0	0	0	1	0	3	0	1	5	5	3	2	5	5	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54802615C>T	ENST00000391745.1	-	9	1193	c.877G>A	c.(877-879)Ggg>Agg	p.G293R	LILRA3_ENST00000251390.3_Missense_Mutation_p.G276R|LILRA3_ENST00000391744.3_Missense_Mutation_p.G212R					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGAGAGCCCAGCCTGGGGC	0.642													15	100					0	0	0	0	T	54802615	C	T	54802615	3	4	364	1	0	0	0	0	1	0	0	0	8840	594	21	4	505	4	LILRA3	19	54802615	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	42105	54802615	4326368	1974	70903											
LILRA4	23547	broad.mit.edu	37	chr19	54848307	54848307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccccctccttggtcagaaGgaaagtgaacatcgggtccc	9	8	11	13	1	1	2	1	1	0	1	4	3	3	3	4	3	2	0	4	3	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54848307G>A	ENST00000291759.4	-	6	1116	c.1060C>T	c.(1060-1062)Ctt>Ttt	p.L354F	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	354	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TTGGTCAGAAGGAAAGTGAAC	0.587													22	151					0	0	0	0	A	54848307	G	A	54848307	3	1	364	1	0	0	0	0	1	0	0	0	8841	1000	35	4	451	4	LILRA4	19	54848307	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	45692	54848307	4280676	1975	70904											
LENG9	94059	broad.mit.edu	37	chr19	54973853	54973853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggctgcaacactaaggcggGcccttttgtcctcgggccag	6	8	14	13	2	0	0	0	0	0	0	2	0	1	0	3	4	2	2	3	4	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54973853G>A	ENST00000333834.4	-	1	1041	c.923C>T	c.(922-924)gCc>gTc	p.A308V		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	308					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		ACTAAGGCGGGCCCTTTTGTC	0.667													9	47					0	0	0	0	A	54973853	G	A	54973853	3	1	364	1	0	0	0	0	1	0	0	0	8778	1203	42	4	586	4	LENG9	19	54973853	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	125546	54973853	4155130	1976	70905											
LILRA2	11027	broad.mit.edu	37	chr19	55086387	55086387	+	Missense_Mutation	SNP	C	C	T																															gtggtcctgggccatcttctCcgtgggccccgtgagcccga																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55086387C>T	ENST00000251377.3	+	5	675	c.542C>T	c.(541-543)tCc>tTc	p.S181F	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S181F|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S181F|LILRA2_ENST00000391737.1_Missense_Mutation_p.S169F					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GCCATCTTCTCCGTGGGCCCC	0.567													66	151					0	0	0	0	T	55086387	C	T	55086387	3	4	364	1	0	0	0	0	1	0	0	0	8839	855	30	2	556	2	LILRA2	19	55086387	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	112534	55086387	4042596	1977	70906	967	2									
LILRA2	11027	broad.mit.edu	37	chr19	55086388	55086388	+	Silent	SNP	C	C	T																															tggtcctgggccatcttctcCgtgggccccgtgagcccgag																								rs143437645		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55086388C>T	ENST00000251377.3	+	5	676	c.543C>T	c.(541-543)tcC>tcT	p.S181S	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.S181S|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.S181S|LILRA2_ENST00000391737.1_Silent_p.S169S					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.S181S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCATCTTCTCCGTGGGCCCCG	0.567													66	150					0	0	0	0	T	55086388	C	T	55086388	2	4	364	1	0	0	0	0	0	0	0	1	8839	639	23	1		1	LILRA2	19	55086388	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	55086388	4042595	1978	70907	967	2									
LILRA1	11024	broad.mit.edu	37	chr19	55106754	55106754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtcccgggccatcttctCtgtgggccccgtgagcccga	3	9	14	15	3	2	1	0	1	2	0	4	2	3	1	5	3	1	0	5	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55106754C>T	ENST00000453777.1	+	5	718	c.548C>T	c.(547-549)tCt>tTt	p.S183F	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.S183F	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	183	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCATCTTCTCTGTGGGCCCC	0.567													107	144					0	0	0	0	T	55106754	C	T	55106754	3	4	364	1	0	0	0	0	1	0	0	0	8838	913	32	2	562	2	LILRA1	19	55106754	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	20366	55106754	4022229	1979	70908											
KIR3DL1	3811	broad.mit.edu	37	chr19	55340822	55340822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcttcttccaggtaaccCcagacacctgcacattctga	9	11	5	16	0	3	2	0	1	3	1	5	2	5	2	5	1	2	2	5	1	1	4	rs1130462		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55340822C>T	ENST00000391728.4	+	7	1040	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P241L|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P319L|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P336L|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P319L	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGGTAACCCCAGACACCTG	0.433													102	61					0	0	0	0	T	55340822	C	T	55340822	3	4	364	1	0	0	0	0	1	0	0	0	8372	623	22	4	1033	4	KIR3DL1	19	55340822	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	234068	55340822	3788161	1980	70909											
NLRP7	199713	broad.mit.edu	37	chr19	55439046	55439046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgccactcttccacaaatGattctggcccaggtccagag	10	10	8	13	0	2	2	0	1	2	1	4	2	4	2	4	2	1	0	4	2	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55439046G>A	ENST00000446217.1	-	12	3394	c.2992C>T	c.(2992-2994)Cat>Tat	p.H998Y	NLRP7_ENST00000448121.2_Missense_Mutation_p.H942Y|NLRP7_ENST00000590030.1_Intron|NLRP7_ENST00000588756.1_Missense_Mutation_p.H970Y|NLRP7_ENST00000340844.2_Intron|NLRP7_ENST00000328092.5_Missense_Mutation_p.H942Y|NLRP7_ENST00000592784.1_Missense_Mutation_p.H970Y			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	0							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)		TTCCACAAATGATTCTGGCCC	0.443													65	108					0	0	0	0	A	55439046	G	A	55439046	3	1	364	1	0	0	0	0	1	0	0	0	10552	1290	45	2	213	2	NLRP7	19	55439046	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	98224	55439046	3689937	1981	70910											
NLRP2	55655	broad.mit.edu	37	chr19	55493546	55493546	+	Nonsense_Mutation	SNP	C	C	A																															aaagacaaagacaataggtgCaggtatatattgaagacgaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55493546C>A	ENST00000543010.1	+	6	623	c.480C>A	c.(478-480)tgC>tgA	p.C160*	NLRP2_ENST00000339757.7_Nonsense_Mutation_p.C138*|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.C138*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.C160*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.C137*|NLRP2_ENST00000391721.4_Nonsense_Mutation_p.C136*|NLRP2_ENST00000538819.1_Nonsense_Mutation_p.C136*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.C157*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	160					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACAATAGGTGCAGGTATATAT	0.448													131	337					1.19336e-48	1.24679e-48	1	0	A	55493546	C	A	55493546	4	1	364	1	0	0	0	0	0	1	0	0	10547	718	25	4	498	4	NLRP2	19	55493546	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	54500	55493546	3635437	1982	70911	968	2									
NLRP2	55655	broad.mit.edu	37	chr19	55493547	55493547	+	Silent	SNP	A	A	C																															aagacaaagacaataggtgcAggtatatattgaagacgaag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55493547A>C	ENST00000543010.1	+	6	624	c.481A>C	c.(481-483)Agg>Cgg	p.R161R	NLRP2_ENST00000339757.7_Silent_p.R139R|NLRP2_ENST00000537859.1_Silent_p.R139R|NLRP2_ENST00000448584.2_Silent_p.R161R|NLRP2_ENST00000427260.2_Silent_p.R138R|NLRP2_ENST00000391721.4_Silent_p.R137R|NLRP2_ENST00000538819.1_Silent_p.R137R|NLRP2_ENST00000263437.6_Silent_p.R158R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	161					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAATAGGTGCAGGTATATATT	0.453													132	338					0	0	0	0	C	55493547	A	C	55493547	2	2	364	1	0	0	0	0	0	0	0	1	10547	179	7	5		5	NLRP2	19	55493547	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	1	55493547	3635436	1983	70912	968	2									
TNNI3	7137	broad.mit.edu	37	chr19	55667649	55667649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgccccttctctccgcgccGctcctccgcctctcgctcca	1	9	7	24	6	2	0	0	0	2	0	8	0	6	0	8	0	0	2	8	0	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55667649G>A	ENST00000344887.5	-	5	344	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	TNNI3_ENST00000588882.1_Missense_Mutation_p.R43W|CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000590463.1_5'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	68	Involved in binding TNC.				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCTCCGCGCCGCTCCTCCGCC	0.682													4	44					0	0	0	0	A	55667649	G	A	55667649	3	1	364	1	0	0	0	0	1	0	0	0	16422	1086	38	1	446	1	TNNI3	19	55667649	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	174102	55667649	3461334	1984	70913											
FIZ1	84922	broad.mit.edu	37	chr19	56103957	56103957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtagcactcgtggcggaaGaacttgccgcactccaggca	10	6	13	12	3	0	1	0	0	0	1	2	2	1	2	2	4	3	4	2	4	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56103957G>A	ENST00000221665.3	-	3	1439	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGTGGCGGAAGAACTTGCCGC	0.662													3	21					0	0	0	0	A	56103957	G	A	56103957	2	1	364	1	0	0	0	0	0	0	0	1	5945	933	33	2		2	FIZ1	19	56103957	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	436308	56103957	3025026	1985	70914											
CCDC106	29903	broad.mit.edu	37	chr19	56160311	56160311	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcacttcacctcccccaGgatggaccctccagtccatc	7	9	6	19	0	2	0	2	0	1	0	7	2	5	2	6	2	0	0	6	2	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56160311G>A	ENST00000588740.1	+	2	45		c.e2-1		CCDC106_ENST00000591241.1_5'UTR|CCDC106_ENST00000586790.1_5'UTR|CCDC106_ENST00000308964.3_Intron|CCDC106_ENST00000591578.1_5'UTR			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106							nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		ACCTCCCCCAGGATGGACCCT	0.657													24	60					0	0	0	0	A	56160311	G	A	56160311	5	1	364	1	0	0	0	0	0	0	1	0	2766	1015	35	4		4	CCDC106	19	56160311	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	56354	56160311	2968672	1986	70915											
NLRP9	338321	broad.mit.edu	37	chr19	56244136	56244136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtttatttcaaggtcttctCccctctctagcctctgtttc	5	18	5	13	0	5	0	1	0	4	0	8	0	5	0	3	1	1	2	3	1	3	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56244136C>T	ENST00000332836.2	-	2	1088	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	354	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAGGTCTTCTCCCCTCTCTAG	0.413													51	83					0	0	0	0	T	56244136	C	T	56244136	3	4	364	1	0	0	0	0	1	0	0	0	10554	855	30	2	1946	2	NLRP9	19	56244136	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	83825	56244136	2884847	1987	70916											
NLRP11	204801	broad.mit.edu	37	chr19	56297047	56297047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catggctgcagacattctggGaaatttgaaaaacatgtaat	15	11	9	6	0	1	2	0	1	1	1	1	3	1	3	0	2	2	3	0	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56297047G>A	ENST00000443188.1	-	12	3756	c.3046C>T	c.(3046-3048)Ccc>Tcc	p.P1016S	NLRP11_ENST00000360133.3_Missense_Mutation_p.P962S|NLRP11_ENST00000592953.1_Missense_Mutation_p.P917S|NLRP11_ENST00000589824.2_Missense_Mutation_p.P962S|NLRP11_ENST00000589093.1_Missense_Mutation_p.P1016S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	1016							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)		GACATTCTGGGAAATTTGAAA	0.373													24	99					0	0	0	0	A	56297047	G	A	56297047	3	1	364	1	0	0	0	0	1	0	0	0	10543	1174	41	2	59	2	NLRP11	19	56297047	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	52911	56297047	2831936	1988	70917											
NLRP11	204801	broad.mit.edu	37	chr19	56319270	56319270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggctttagacagaatcCtttctgaaataccattaagg	13	11	8	9	0	1	3	0	1	1	2	2	3	2	3	3	2	1	1	3	2	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56319270C>T	ENST00000443188.1	-	6	2662	c.1952G>A	c.(1951-1953)aGg>aAg	p.R651K	NLRP11_ENST00000360133.3_Intron|NLRP11_ENST00000592953.1_Missense_Mutation_p.R552K|NLRP11_ENST00000589824.2_Intron|NLRP11_ENST00000589093.1_Missense_Mutation_p.R651K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	651							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)		AGACAGAATCCTTTCTGAAAT	0.438													20	171					0	0	0	0	T	56319270	C	T	56319270	3	4	364	1	0	0	0	0	1	0	0	0	10543	681	24	4	1177	4	NLRP11	19	56319270	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	22223	56319270	2809713	1989	70918											
NLRP11	204801	broad.mit.edu	37	chr19	56320316	56320316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtcttcacaaattcttcttCccgattctcatagagacagt	10	14	5	12	2	5	1	2	0	4	1	7	3	6	1	1	0	0	0	1	0	2	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56320316C>T	ENST00000443188.1	-	5	2370	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	NLRP11_ENST00000360133.3_Missense_Mutation_p.E554K|NLRP11_ENST00000592953.1_Missense_Mutation_p.E455K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E554K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E554K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	554							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)		AATTCTTCTTCCCGATTCTCA	0.423													32	182					0	0	0	0	T	56320316	C	T	56320316	3	4	364	1	0	0	0	0	1	0	0	0	10543	864	30	2	1473	2	NLRP11	19	56320316	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1046	56320316	2808667	1990	70919											
NLRP4	147945	broad.mit.edu	37	chr19	56363573	56363573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcttgaactcaagcagattCcctggactgaggtcaaaaaa	15	8	9	9	0	2	3	2	2	0	1	3	4	3	4	1	2	3	2	1	2	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56363573C>T	ENST00000301295.6	+	2	549	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	NLRP4_ENST00000346986.5_Missense_Mutation_p.P43S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	43	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CAAGCAGATTCCCTGGACTGA	0.413													52	86					0	0	0	0	T	56363573	C	T	56363573	3	4	364	1	0	0	0	0	1	0	0	0	10549	855	30	2	129	2	NLRP4	19	56363573	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	43257	56363573	2765410	1991	70920											
NLRP4	147945	broad.mit.edu	37	chr19	56370046	56370046	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggttgttgacgctgacatCcctgcgctgctgggcaccaa	6	9	14	12	2	0	2	0	2	0	0	1	2	1	2	2	3	2	6	2	3	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56370046C>T	ENST00000301295.6	+	3	1709	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	NLRP4_ENST00000587891.1_Silent_p.I354I|NLRP4_ENST00000346986.5_Silent_p.I429I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	429	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACGCTGACATCCCTGCGCTGC	0.557													55	131					0	0	0	0	T	56370046	C	T	56370046	2	4	364	1	0	0	0	0	0	0	0	1	10549	845	30	2		2	NLRP4	19	56370046	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	6473	56370046	2758937	1992	70921											
NLRP13	126204	broad.mit.edu	37	chr19	56423283	56423283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaaaaagtcgtagaatgtGaaattggagagaggcacttt	15	10	13	3	1	0	4	0	2	0	2	1	6	0	5	0	2	0	2	0	2	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56423283G>A	ENST00000588751.1	-	5	1924	c.1900C>T	c.(1900-1902)Cac>Tac	p.H634Y	NLRP13_ENST00000342929.3_Missense_Mutation_p.H634Y			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	634							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGTAGAATGTGAAATTGGAGA	0.408													47	70					0	0	0	0	A	56423283	G	A	56423283	3	1	364	1	0	0	0	0	1	0	0	0	10545	1290	45	2	1257	2	NLRP13	19	56423283	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	53237	56423283	2705700	1993	70922											
NLRP5	126206	broad.mit.edu	37	chr19	56515092	56515092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttttaagtcttgtcactCtttccacaggtcctacttgc	6	17	5	13	0	4	0	1	0	3	0	6	0	6	0	2	1	2	0	2	1	2	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56515092C>T	ENST00000390649.3	+	2	73	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	25						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTTGTCACTCTTTCCACAGG	0.408													38	103					0	0	0	0	T	56515092	C	T	56515092	3	4	364	1	0	0	0	0	1	0	0	0	10550	913	32	2	79	2	NLRP5	19	56515092	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	91809	56515092	2613891	1994	70923											
GALP	85569	broad.mit.edu	37	chr19	56691959	56691959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcatctctatccagggacGaggaggctggaccctcaata	10	8	11	12	1	2	0	1	0	1	0	4	4	3	3	2	4	1	2	2	4	3	2	rs149853638		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56691959G>A	ENST00000357330.2	+	3	174	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	GALP_ENST00000590002.1_Intron|GALP_ENST00000440823.1_Intron	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	31					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		ATCCAGGGACGAGGAGGCTGG	0.607													19	44					0	0	0	0	A	56691959	G	A	56691959	3	1	364	1	0	0	0	0	1	0	0	0	6275	1058	37	1	98	1	GALP	19	56691959	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	176867	56691959	2437024	1995	70924											
ZNF582	147948	broad.mit.edu	37	chr19	56896527	56896527	+	Missense_Mutation	SNP	C	C	T																															atgctgctttggaaataattCcttggtatcatatctggact																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56896527C>T	ENST00000301310.4	-	5	417	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	ZNF582_ENST00000586929.1_Missense_Mutation_p.E87K	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GGAAATAATTCCTTGGTATCA	0.353													18	64					0	0	0	0	T	56896527	C	T	56896527	3	4	364	1	0	0	0	0	1	0	0	0	18109	864	30	2	1298	2	ZNF582	19	56896527	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	204568	56896527	2232456	1996	70925	969	2									
ZNF582	147948	broad.mit.edu	37	chr19	56896528	56896528	+	Silent	SNP	C	C	T																															tgctgctttggaaataattcCttggtatcatatctggactc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56896528C>T	ENST00000301310.4	-	5	416	c.258G>A	c.(256-258)aaG>aaA	p.K86K	ZNF582_ENST00000586929.1_Silent_p.K86K	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GAAATAATTCCTTGGTATCAT	0.358													18	65					0	0	0	0	T	56896528	C	T	56896528	2	4	364	1	0	0	0	0	0	0	0	1	18109	680	24	4		4	ZNF582	19	56896528	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	56896528	2232455	1997	70926	969	2									
ZNF583	147949	broad.mit.edu	37	chr19	56934474	56934474	+	Silent	SNP	C	C	T																															atcatcactcataaagaaatCcttccagaagttcaaaataa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56934474C>T	ENST00000333201.9	+	5	657	c.447C>T	c.(445-447)atC>atT	p.I149I	ZNF583_ENST00000291598.7_Silent_p.I149I	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ATAAAGAAATCCTTCCAGAAG	0.363													16	114					0	0	0	0	T	56934474	C	T	56934474	2	4	364	1	0	0	0	0	0	0	0	1	18110	845	30	2		2	ZNF583	19	56934474	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	37946	56934474	2194509	1998	70927	970	2									
ZNF583	147949	broad.mit.edu	37	chr19	56934475	56934475	+	Missense_Mutation	SNP	C	C	T																															tcatcactcataaagaaatcCttccagaagttcaaaataaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56934475C>T	ENST00000333201.9	+	5	658	c.448C>T	c.(448-450)Ctt>Ttt	p.L150F	ZNF583_ENST00000291598.7_Missense_Mutation_p.L150F	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TAAAGAAATCCTTCCAGAAGT	0.363													16	112					0	0	0	0	T	56934475	C	T	56934475	3	4	364	1	0	0	0	0	1	0	0	0	18110	681	24	4	462	4	ZNF583	19	56934475	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	56934475	2194508	1999	70928	970	2									
ZNF667	63934	broad.mit.edu	37	chr19	56953821	56953821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatggatgagatctgtctGaaagcttttctacaattact	12	14	9	6	0	3	2	0	2	3	1	3	5	3	4	0	2	3	1	0	2	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56953821G>A	ENST00000504904.3	-	7	1262	c.543C>T	c.(541-543)ttC>ttT	p.F181F	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Silent_p.F181F|ZNF667_ENST00000342634.3_Silent_p.F309F			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AGATCTGTCTGAAAGCTTTTC	0.383													25	121					0	0	0	0	A	56953821	G	A	56953821	2	1	364	1	0	0	0	0	0	0	0	1	18169	1281	45	2		2	ZNF667	19	56953821	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	19346	56953821	2175162	2000	70929											
ZNF835	90485	broad.mit.edu	37	chr19	57176536	57176536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttccttccaactctgcgcCctggagggcgacgctcaaga	7	9	11	14	3	2	1	1	0	1	1	4	3	4	2	3	2	2	2	3	2	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57176536C>T	ENST00000537055.2	-	2	262	c.31G>A	c.(31-33)Ggc>Agc	p.G11S		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AACTCTGCGCCCTGGAGGGCG	0.547													27	36					0	0	0	0	T	57176536	C	T	57176536	3	4	364	1	0	0	0	0	1	0	0	0	18279	623	22	4	1584	4	ZNF835	19	57176536	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	222715	57176536	1952447	2001	70930											
PEG3	5178	broad.mit.edu	37	chr19	57325361	57325361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttcaattcccacaccGtcaggctcgtcggcatctcc	6	10	9	16	3	4	0	2	0	2	0	8	0	5	0	3	3	0	2	3	3	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57325361G>T	ENST00000326441.9	-	10	4812	c.4449C>A	c.(4447-4449)gaC>gaA	p.D1483E	PEG3_ENST00000598410.1_Missense_Mutation_p.D1359E|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1483E|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D1357E|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1483	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCCCACACCGTCAGGCTCGT	0.493													63	154					2.3441e-25	2.44245e-25	1	0	T	57325361	G	T	57325361	3	4	364	1	0	0	0	0	1	0	0	0	11791	1136	40	3	321	3	PEG3	19	57325361	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	148825	57325361	1803622	2002	70931			1	110		5	5	2251	N	G_C	1.927972e-05
PEG3	5178	broad.mit.edu	37	chr19	57325830	57325830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attcatagaatggtatagctCctttgaggggctcagtaaga	12	12	11	6	0	2	3	2	1	0	2	3	3	3	3	1	3	1	4	1	3	5	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57325830C>T	ENST00000326441.9	-	10	4343	c.3980G>A	c.(3979-3981)gGa>gAa	p.G1327E	PEG3_ENST00000598410.1_Missense_Mutation_p.G1203E|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1327E|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G1201E|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1327					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGTATAGCTCCTTTGAGGGG	0.428													18	69					0	0	0	0	T	57325830	C	T	57325830	3	4	364	1	0	0	0	0	1	0	0	0	11791	855	30	2	790	2	PEG3	19	57325830	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	469	57325830	1803153	2003	70932			1	110		5	5	2251	N	G_C	1.927972e-05
PEG3	5178	broad.mit.edu	37	chr19	57326902	57326902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccccacactcctgacattCatagagcatccctcgagggc	9	8	7	17	1	1	2	1	1	0	1	5	3	4	2	4	1	1	1	4	1	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57326902C>T	ENST00000326441.9	-	10	3271	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K	PEG3_ENST00000598410.1_Missense_Mutation_p.E846K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E970K|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E844K|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	970					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCTGACATTCATAGAGCATC	0.458													54	150					0	0	0	0	T	57326902	C	T	57326902	3	4	364	1	0	0	0	0	1	0	0	0	11791	835	29	2	1862	2	PEG3	19	57326902	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1072	57326902	1802081	2004	70933			1	110		5	5	2251	N	G_C	1.927972e-05
PEG3	5178	broad.mit.edu	37	chr19	57327572	57327572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatggtgaacgccttttcGtcctcatcactttcaagagg	9	13	8	11	2	3	2	3	1	0	1	5	2	4	2	2	2	1	0	2	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57327572G>A	ENST00000326441.9	-	10	2601	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D	PEG3_ENST00000598410.1_Silent_p.D622D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.D746D|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.D620D|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	746					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D746E(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACGCCTTTTCGTCCTCATCAC	0.408													74	162					0	0	0	0	A	57327572	G	A	57327572	2	1	364	1	0	0	0	0	0	0	0	1	11791	1136	40	1		1	PEG3	19	57327572	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	670	57327572	1801411	2005	70934			1	110		5	5	2251	N	G_C	1.927972e-05
PEG3	5178	broad.mit.edu	37	chr19	57327611	57327611	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcttgttatagtatgactCttctgagattcagtgaatgg	9	16	11	5	0	4	3	1	3	3	1	4	4	4	3	0	2	0	2	0	2	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57327611C>G	ENST00000326441.9	-	10	2562	c.2199G>C	c.(2197-2199)aaG>aaC	p.K733N	PEG3_ENST00000598410.1_Missense_Mutation_p.K609N|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.K733N|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.K607N|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	733					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAGTATGACTCTTCTGAGATT	0.413													63	93					0	0	0	0	G	57327611	C	G	57327611	3	3	364	1	0	0	0	0	1	0	0	0	11791	912	32	2	2571	2	PEG3	19	57327611	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	39	57327611	1801372	2006	70935			1	110		5	5	2251	N	G_C	1.927972e-05
USP29	57663	broad.mit.edu	37	chr19	57641804	57641804	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagctgacctcagaatcCagtgattccctggttctacc	10	11	8	12	0	2	4	1	3	1	1	4	4	4	4	4	1	2	2	4	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57641804C>T	ENST00000254181.4	+	4	2215	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	USP29_ENST00000598197.1_Silent_p.S587S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	587					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTCAGAATCCAGTGATTCCC	0.488													13	114					0	0	0	0	T	57641804	C	T	57641804	2	4	364	1	0	0	0	0	0	0	0	1	17155	581	21	4		4	USP29	19	57641804	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	314193	57641804	1487179	2007	70936											
ZNF548	147694	broad.mit.edu	37	chr19	57910606	57910606	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagggaatgtgggaaattCtttatggacagctccacact	11	11	11	8	0	1	0	0	0	1	0	2	3	2	3	1	3	2	2	1	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57910606C>T	ENST00000366197.5	+	3	1201	c.951C>T	c.(949-951)ttC>ttT	p.F317F	ZNF548_ENST00000336128.7_Silent_p.F329F|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		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;0.026)		GTGGGAAATTCTTTATGGACA	0.423													15	86					0	0	0	0	T	57910606	C	T	57910606	2	4	364	1	0	0	0	0	0	0	0	1	18075	912	32	2		2	ZNF548	19	57910606	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	268802	57910606	1218377	2008	70937											
ZNF17	7565	broad.mit.edu	37	chr19	57931851	57931851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atactggagaacggccttatGgatgcaatgaatgtgggaaa	14	9	13	5	1	0	2	0	1	0	1	0	5	0	4	1	4	3	1	1	4	6	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57931851G>A	ENST00000307658.7	+	4	1260	c.997G>A	c.(997-999)Gga>Aga	p.G333R	ZNF17_ENST00000601808.1_Missense_Mutation_p.G331R|AC004076.7_ENST00000597410.1_Intron			P17021	ZNF17_HUMAN	zinc finger protein 17	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ACGGCCTTATGGATGCAATGA	0.443													31	74					0	0	0	0	A	57931851	G	A	57931851	3	1	364	1	0	0	0	0	1	0	0	0	17838	1349	47	4	1001	4	ZNF17	19	57931851	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	21245	57931851	1197132	2009	70938											
ZNF530	348327	broad.mit.edu	37	chr19	58117311	58117311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaccagctccagaagcttGataatggagagaagctcttt	12	11	9	9	0	2	3	1	1	1	2	3	5	3	4	2	1	3	3	2	1	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58117311G>A	ENST00000332854.6	+	3	638	c.418G>A	c.(418-420)Gat>Aat	p.D140N	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCAGAAGCTTGATAATGGAGA	0.473													20	96					0	0	0	0	A	58117311	G	A	58117311	3	1	364	1	0	0	0	0	1	0	0	0	18066	1290	45	2	428	2	ZNF530	19	58117311	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	185460	58117311	1011672	2010	70939											
ZNF551	90233	broad.mit.edu	37	chr19	58196721	58196721	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgtactgcgatgtgaTgctggagaactttgcacatg	8	13	12	8	1	0	2	0	1	0	1	1	4	1	2	1	1	5	4	1	1	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58196721T>G	ENST00000282296.5	+	2	358	c.173T>G	c.(172-174)aTg>aGg	p.M58R	ZNF551_ENST00000356715.4_Missense_Mutation_p.M42R|ZNF551_ENST00000599402.1_Intron|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Missense_Mutation_p.M42R	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCGATGTGATGCTGGAGAAC	0.498													38	257					0	0	0	0	G	58196721	T	G	58196721	3	3	364	1	0	0	0	0	1	0	0	0	18078	1464	51	5	131	5	ZNF551	19	58196721	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	79410	58196721	932262	2011	70940											
ZNF418	147686	broad.mit.edu	37	chr19	58437850	58437850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcccacattctctgcactCataaggtctttctgcagtgt	7	16	6	12	0	4	0	1	0	3	0	6	0	5	0	1	1	2	2	1	1	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58437850C>T	ENST00000396147.1	-	4	1990	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	ZNF418_ENST00000595830.1_Missense_Mutation_p.E567K|ZNF418_ENST00000425570.3_Missense_Mutation_p.E588K|ZNF418_ENST00000599852.1_Missense_Mutation_p.E482K|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCTCTGCACTCATAAGGTCTT	0.438													24	71					0	0	0	0	T	58437850	C	T	58437850	3	4	364	1	0	0	0	0	1	0	0	0	17990	835	29	2	335	2	ZNF418	19	58437850	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	241129	58437850	691133	2012	70941											
C19orf18	147685	broad.mit.edu	37	chr19	58472858	58472858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcttcatctcctaataacgGtatcctgaggttcttataaa	11	16	5	9	1	4	1	1	1	3	0	6	1	5	1	2	2	1	2	2	2	6	8	rs35437132	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58472858G>A	ENST00000314391.3	-	5	534	c.433C>T	c.(433-435)Ccg>Tcg	p.P145S		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	145						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CCTAATAACGGTATCCTGAGG	0.458													22	109					0	0	0	0	A	58472858	G	A	58472858	3	1	364	1	0	0	0	0	1	0	0	0	1928	1261	44	4	222	4	C19orf18	19	58472858	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	35008	58472858	656125	2013	70942											
ZNF606	80095	broad.mit.edu	37	chr19	58499607	58499607	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaggacatgcctgctccActgaccacggctcttctcct	6	11	9	15	1	2	2	0	2	2	0	4	3	3	3	4	2	2	3	4	2	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58499607A>C	ENST00000341164.4	-	6	988	c.368T>G	c.(367-369)gTg>gGg	p.V123G	ZNF606_ENST00000536132.1_Missense_Mutation_p.V33G	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	123	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGCCTGCTCCACTGACCACGG	0.522													10	65					0	0	0	0	C	58499607	A	C	58499607	3	2	364	1	0	0	0	0	1	0	0	0	18127	159	6	5	2018	5	ZNF606	19	58499607	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	26749	58499607	629376	2014	70943											
ZNF135	7694	broad.mit.edu	37	chr19	58578350	58578350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcagaggaatgggtttggGgaaaacataagtctgaaccc	13	8	14	6	0	1	2	0	1	1	1	1	4	1	4	1	5	2	2	1	5	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58578350G>A	ENST00000506786.1	+	5	926	c.372G>A	c.(370-372)ggG>ggA	p.G124G	ZNF135_ENST00000401053.4_Silent_p.G190G|ZNF135_ENST00000359978.6_Silent_p.G178G|ZNF135_ENST00000511556.1_Silent_p.G178G|ZNF135_ENST00000313434.5_Silent_p.G166G|ZNF135_ENST00000439855.2_Silent_p.G166G			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	178					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ATGGGTTTGGGGAAAACATAA	0.542													19	27					0	0	0	0	A	58578350	G	A	58578350	2	1	364	1	0	0	0	0	0	0	0	1	17820	1219	43	4		4	ZNF135	19	58578350	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	78743	58578350	550633	2015	70944											
ZNF135	7694	broad.mit.edu	37	chr19	58578606	58578606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaatgcttaaaaggcttcCggaacagctcggcacttacc	12	8	9	12	3	0	0	0	0	0	0	2	2	1	1	2	3	4	4	2	3	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58578606C>T	ENST00000506786.1	+	5	1182	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	ZNF135_ENST00000401053.4_Missense_Mutation_p.R276W|ZNF135_ENST00000359978.6_Missense_Mutation_p.R264W|ZNF135_ENST00000511556.1_Missense_Mutation_p.R264W|ZNF135_ENST00000313434.5_Missense_Mutation_p.R252W|ZNF135_ENST00000439855.2_Missense_Mutation_p.R252W			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	264					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AAAAGGCTTCCGGAACAGCTC	0.502													21	145					0	0	0	0	T	58578606	C	T	58578606	3	4	364	1	0	0	0	0	1	0	0	0	17820	643	23	1	957	1	ZNF135	19	58578606	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	256	58578606	550377	2016	70945											
SLC27A5	10998	broad.mit.edu	37	chr19	59010014	59010014	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgaagccctcacgcaccaaCcgggtcttcatcagtttgaa	10	10	8	13	2	4	2	3	2	1	0	4	2	4	2	3	1	2	2	3	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:59010014C>T	ENST00000263093.2	-	10	2050	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R	SLC27A5_ENST00000601355.1_Silent_p.R563R|SLC27A5_ENST00000594786.1_Silent_p.R52R|SLC27A5_ENST00000599700.1_5'UTR	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	647					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CACGCACCAACCGGGTCTTCA	0.592													11	26					0	0	0	0	T	59010014	C	T	59010014	2	4	364	1	0	0	0	0	0	0	0	1	14617	494	18	4		4	SLC27A5	19	59010014	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	431408	59010014	118969	2017	70946											
SLC27A5	10998	broad.mit.edu	37	chr19	59010864	59010864	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgcctcggaccggaaGgtgtccccgaggcggtcgcg	6	5	15	15	6	0	0	0	0	0	0	3	3	1	2	5	5	2	0	5	5	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:59010864G>A	ENST00000263093.2	-	7	1771	c.1662C>T	c.(1660-1662)acC>acT	p.T554T	SLC27A5_ENST00000601355.1_Silent_p.T470T	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGACCGGAAGGTGTCCCCGA	0.657													6	71					0	0	0	0	A	59010864	G	A	59010864	2	1	364	1	0	0	0	0	0	0	0	1	14617	987	35	4		4	SLC27A5	19	59010864	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	850	59010864	118119	2018	70947											
DEFB127	140850	broad.mit.edu	37	chr20	139628	139628	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaagactatgttacaataaTagaaaatttcccaagcctga	17	11	5	8	0	1	3	1	1	0	2	2	3	2	3	2	0	2	1	2	0	9	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:139628T>G	ENST00000382388.3	+	2	338	c.263T>G	c.(262-264)aTa>aGa	p.I88R		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	88					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GTTACAATAATAGAAAATTTC	0.363													21	31					0	0	0	0	G	139628	T	G	139628	3	3	364	1	0	0	0	0	1	0	0	0	4449	1406	49	5	269	5	DEFB127	20	139628	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08		139628	62885892	2019	70948											
PDYN	5173	broad.mit.edu	37	chr20	1961100	1961100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcttgggacgaatgcgccGcaagaagcccccatagcgtt	10	6	13	12	4	0	1	0	0	0	1	0	4	0	2	3	1	4	3	3	1	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:1961100G>A	ENST00000217305.2	-	4	859	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R212W|PDYN_ENST00000540134.1_Missense_Mutation_p.R212W	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	212			R -> W (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect).		cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGAATGCGCCGCAAGAAGCCC	0.587													26	149					0	0	0	0	A	1961100	G	A	1961100	3	1	364	1	0	0	0	0	1	0	0	0	11770	1086	38	1	134	1	PDYN	20	1961100	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1821472	1961100	61064420	2020	70949											
CPXM1	56265	broad.mit.edu	37	chr20	2779447	2779447	+	Missense_Mutation	SNP	G	G	A																															gggcccggcagtcaccagtgGggtggggcgagttagagtta																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:2779447G>A	ENST00000380605.2	-	2	329	c.265C>T	c.(265-267)Cca>Tca	p.P89S		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	89					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTCACCAGTGGGGTGGGGCGA	0.572													48	117					0	0	0	0	A	2779447	G	A	2779447	3	1	364	1	0	0	0	0	1	0	0	0	3867	1232	43	4	1991	4	CPXM1	20	2779447	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	818347	2779447	60246073	2021	70950	971	2									
CPXM1	56265	broad.mit.edu	37	chr20	2779448	2779448	+	Silent	SNP	G	G	A																															ggcccggcagtcaccagtggGgtggggcgagttagagttag																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:2779448G>A	ENST00000380605.2	-	2	328	c.264C>T	c.(262-264)acC>acT	p.T88T		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	88					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCACCAGTGGGGTGGGGCGAG	0.572													49	117					0	0	0	0	A	2779448	G	A	2779448	2	1	364	1	0	0	0	0	0	0	0	1	3867	1219	43	4		4	CPXM1	20	2779448	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	2779448	60246072	2022	70951	971	2									
SLC4A11	83959	broad.mit.edu	37	chr20	3214206	3214206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgacgaaccgaacctcacagGaattctccccccagttctgt	10	9	7	15	2	3	1	1	1	2	0	4	4	3	2	5	1	2	1	5	1	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3214206G>A	ENST00000380059.3	-	7	913	c.812C>T	c.(811-813)tCc>tTc	p.S271F	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.S244F|SLC4A11_ENST00000539553.1_Missense_Mutation_p.S228F	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	244					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AACCTCACAGGAATTCTCCCC	0.642													13	79					0	0	0	0	A	3214206	G	A	3214206	3	1	364	1	0	0	0	0	1	0	0	0	14740	1174	41	2	2000	2	SLC4A11	20	3214206	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	434758	3214206	59811314	2023	70952											
ADAM33	80332	broad.mit.edu	37	chr20	3655679	3655679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaagcatctcaccgtgtGgttgggggccagcaccactg	8	8	14	11	1	1	0	1	0	1	0	2	1	1	1	3	4	2	3	3	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3655679G>A	ENST00000356518.2	-	4	569	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	ADAM33_ENST00000350009.2_Missense_Mutation_p.H110Y|ADAM33_ENST00000379861.4_Missense_Mutation_p.H110Y	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	110					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CTCACCGTGTGGTTGGGGGCC	0.617													17	101					0	0	0	0	A	3655679	G	A	3655679	3	1	364	1	0	0	0	0	1	0	0	0	250	1348	47	4	2189	4	ADAM33	20	3655679	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	441473	3655679	59369841	2024	70953											
SIGLEC1	6614	broad.mit.edu	37	chr20	3672822	3672822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggccctggagtcccggaagGaggacaggacagcgtcctga	9	5	16	11	2	0	1	0	1	0	0	2	6	2	6	3	6	1	0	3	6	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3672822G>A	ENST00000344754.4	-	16	4057	c.4058C>T	c.(4057-4059)tCc>tTc	p.S1353F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1353F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1353	Ig-like C2-type 14.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTCCCGGAAGGAGGACAGGAC	0.612													17	51					0	0	0	0	A	3672822	G	A	3672822	3	1	364	1	0	0	0	0	1	0	0	0	14393	1174	41	2	1095	2	SIGLEC1	20	3672822	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	17143	3672822	59352698	2025	70954											
SIGLEC1	6614	broad.mit.edu	37	chr20	3677377	3677377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttagcctggaaccgaccatGggatgggacctggggaccca	9	7	14	11	1	0	0	0	0	0	0	0	5	0	4	5	5	2	0	5	5	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3677377G>A	ENST00000344754.4	-	10	2538	c.2539C>T	c.(2539-2541)Cat>Tat	p.H847Y	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.H847Y	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	847	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AACCGACCATGGGATGGGACC	0.622													27	79					0	0	0	0	A	3677377	G	A	3677377	3	1	364	1	0	0	0	0	1	0	0	0	14393	1348	47	4	2638	4	SIGLEC1	20	3677377	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4555	3677377	59348143	2026	70955											
SIGLEC1	6614	broad.mit.edu	37	chr20	3679949	3679949	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagtgctggaggccgcgggGagcaggaggctgctgccggg	5	5	21	10	3	1	0	1	0	0	0	1	3	1	3	2	7	4	4	2	7	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3679949G>A	ENST00000344754.4	-	7	1685	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L	SIGLEC1_ENST00000202578.4_Silent_p.L562L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	562	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGGCCGCGGGGAGCAGGAGGC	0.672													3	23					0	0	0	0	A	3679949	G	A	3679949	2	1	364	1	0	0	0	0	0	0	0	1	14393	1161	41	2		2	SIGLEC1	20	3679949	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2572	3679949	59345571	2027	70956											
SIGLEC1	6614	broad.mit.edu	37	chr20	3684712	3684712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctccccgaggggctgaGgaggatcttcacacccttgg	6	9	13	13	1	2	1	1	1	1	0	4	4	4	3	4	5	0	2	4	5	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3684712G>A	ENST00000344754.4	-	4	732	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L245F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	245	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GAGGGGCTGAGGAGGATCTTC	0.577													18	65					0	0	0	0	A	3684712	G	A	3684712	3	1	364	1	0	0	0	0	1	0	0	0	14393	1000	35	4	4468	4	SIGLEC1	20	3684712	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4763	3684712	59340808	2028	70957											
PROKR2	128674	broad.mit.edu	37	chr20	5294626	5294626	+	Silent	SNP	G	G	A																															acggtgcgcaggtagttgacGgaggcacagagcacgtggcc																								rs144778137	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:5294626G>A	ENST00000546004.1	-	2	636	c.390C>T	c.(388-390)tcC>tcT	p.S130S	PROKR2_ENST00000217270.3_Silent_p.S130S			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	130						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGTAGTTGACGGAGGCACAGA	0.612										HNSCC(71;0.22)			12	55					0	0	0	0	A	5294626	G	A	5294626	2	1	364	1	0	0	0	0	0	0	0	1	12633	1103	39	1		1	PROKR2	20	5294626	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1609914	5294626	57730894	2029	70958	972	2									
PROKR2	128674	broad.mit.edu	37	chr20	5294627	5294627	+	Missense_Mutation	SNP	G	G	A																															cggtgcgcaggtagttgacgGaggcacagagcacgtggcca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:5294627G>A	ENST00000546004.1	-	2	635	c.389C>T	c.(388-390)tCc>tTc	p.S130F	PROKR2_ENST00000217270.3_Missense_Mutation_p.S130F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	130						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GTAGTTGACGGAGGCACAGAG	0.607										HNSCC(71;0.22)			13	56					0	0	0	0	A	5294627	G	A	5294627	3	1	364	1	0	0	0	0	1	0	0	0	12633	1174	41	2	772	2	PROKR2	20	5294627	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	5294627	57730893	2030	70959	972	2									
GPCPD1	56261	broad.mit.edu	37	chr20	5550825	5550825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaacaacaggtaagatcatGatataccacgggcacaaagt	18	6	8	9	1	1	2	1	1	0	1	1	2	1	2	1	2	3	2	1	2	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:5550825G>A	ENST00000379019.4	-	12	1329	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	373	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GTAAGATCATGATATACCACG	0.353													10	96					0	0	0	0	A	5550825	G	A	5550825	3	1	364	1	0	0	0	0	1	0	0	0	6652	1290	45	2	937	2	GPCPD1	20	5550825	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	256198	5550825	57474695	2031	70960											
CHGB	1114	broad.mit.edu	37	chr20	5903905	5903905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtgaagaatacagggCtccaagacctcagagtgagg	15	5	14	7	0	1	5	1	2	0	3	2	6	2	6	2	3	1	1	2	3	5	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:5903905C>T	ENST00000378961.4	+	4	1319	c.1115C>T	c.(1114-1116)gCt>gTt	p.A372V		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	372						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAATACAGGGCTCCAAGACCT	0.507													51	80					0	0	0	0	T	5903905	C	T	5903905	3	4	364	1	0	0	0	0	1	0	0	0	3368	797	28	4	1129	4	CHGB	20	5903905	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	353080	5903905	57121615	2032	70961											
JAG1	182	broad.mit.edu	37	chr20	10630991	10630991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccgtgggaacagttattagGagaacagtcatcaatgtctg	12	10	11	8	1	3	1	2	0	1	1	3	3	3	2	1	2	2	1	1	2	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:10630991G>A	ENST00000254958.5	-	9	1653	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	JAG1_ENST00000423891.2_Missense_Mutation_p.P221S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	380	EGF-like 5; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGTTATTAGGAGAACAGTCA	0.458									Alagille Syndrome				21	27					0	0	0	0	A	10630991	G	A	10630991	3	1	364	1	0	0	0	0	1	0	0	0	7987	1174	41	2	2590	2	JAG1	20	10630991	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4727086	10630991	52394529	2033	70962											
KIF16B	55614	broad.mit.edu	37	chr20	16348135	16348135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggataaaaaacacagtcttCcttcaccagtgcaatgtggg	13	10	9	9	0	2	0	1	0	1	0	3	1	3	1	2	2	2	1	2	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:16348135C>T	ENST00000408042.1	-	23	3992	c.3835G>A	c.(3835-3837)Gaa>Aaa	p.E1279K	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACACAGTCTTCCTTCACCAGT	0.468													30	122					0	0	0	0	T	16348135	C	T	16348135	3	4	364	1	0	0	0	0	1	0	0	0	8329	870	30	2		2	KIF16B	20	16348135	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5717144	16348135	46677385	2034	70963											
BFSP1	631	broad.mit.edu	37	chr20	17475391	17475391	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgaccttcctgtatagtttCccaaagcctttgcttatctg	7	17	6	11	0	1	1	0	1	1	0	3	1	3	1	4	0	2	3	4	0	4	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:17475391C>T	ENST00000377873.3	-	8	1365	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	BFSP1_ENST00000544874.1_Silent_p.G303G|BFSP1_ENST00000536626.1_Silent_p.G303G|BFSP1_ENST00000377868.2_Silent_p.G317G	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	442	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TGTATAGTTTCCCAAAGCCTT	0.507													34	202					0	0	0	0	T	17475391	C	T	17475391	2	4	364	1	0	0	0	0	0	0	0	1	1420	842	30	2		2	BFSP1	20	17475391	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1127256	17475391	45550129	2035	70964											
SLC24A3	57419	broad.mit.edu	37	chr20	19665797	19665797	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacggggaatctgaggtggcCatcaaaatcccaattaagca	15	7	10	9	1	2	1	1	1	1	0	3	2	3	2	2	4	2	1	2	4	6	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:19665797C>T	ENST00000328041.6	+	12	1313	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	372						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGAGGTGGCCATCAAAATCC	0.537													14	115					0	0	0	0	T	19665797	C	T	19665797	2	4	364	1	0	0	0	0	0	0	0	1	14555	581	21	4		4	SLC24A3	20	19665797	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2190406	19665797	43359723	2036	70965											
C20orf26	26074	broad.mit.edu	37	chr20	20208964	20208964	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attactgtcaatgccaagatCattgtggttggtgcatccag	10	13	10	8	0	2	1	2	0	0	1	3	1	3	1	2	2	3	2	2	2	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:20208964C>T	ENST00000245957.5	+	18	2080	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	C20orf26_ENST00000377309.2_Silent_p.I24I|C20orf26_ENST00000497372.1_3'UTR|C20orf26_ENST00000389656.3_Silent_p.I24I|C20orf26_ENST00000377293.1_Silent_p.I24I	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	668										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATGCCAAGATCATTGTGGTTG	0.333													93	110					0	0	0	0	T	20208964	C	T	20208964	2	4	364	1	0	0	0	0	0	0	0	1	2126	816	29	2		2	C20orf26	20	20208964	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	543167	20208964	42816556	2037	70966											
NINL	22981	broad.mit.edu	37	chr20	25481637	25481637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtggtgtggcagccgctctCctctgggacctgcatgtcag	4	10	15	12	1	3	0	1	0	2	0	4	1	3	1	3	4	2	3	3	4	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:25481637C>T	ENST00000278886.6	-	8	944	c.871G>A	c.(871-873)Gag>Aag	p.E291K	NINL_ENST00000422516.1_Missense_Mutation_p.E291K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	291					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAGCCGCTCTCCTCTGGGACC	0.612													11	20					0	0	0	0	T	25481637	C	T	25481637	3	4	364	1	0	0	0	0	1	0	0	0	10490	864	30	2	3345	2	NINL	20	25481637	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5272673	25481637	37543883	2038	70967											
NINL	22981	broad.mit.edu	37	chr20	25498400	25498400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcttacctgattccaaaGaactactgtcttcatctgag	10	14	5	12	0	4	3	1	2	3	1	6	3	6	3	3	0	3	0	3	0	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:25498400G>A	ENST00000278886.6	-	3	339	c.266C>T	c.(265-267)tCt>tTt	p.S89F	NINL_ENST00000422516.1_Missense_Mutation_p.S89F	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	89					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGATTCCAAAGAACTACTGTC	0.378													18	40					0	0	0	0	A	25498400	G	A	25498400	3	1	364	1	0	0	0	0	1	0	0	0	10490	942	33	2	3970	2	NINL	20	25498400	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	16763	25498400	37527120	2039	70968											
ZNF337	26152	broad.mit.edu	37	chr20	25656044	25656044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacactccttgcatacaaaaGgctgcttgccagaatgtgca	12	9	8	12	0	0	1	0	0	0	1	1	1	1	1	2	1	5	4	2	1	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:25656044G>A	ENST00000376436.1	-	4	2419	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.P627L|ZNF337_ENST00000538750.1_Missense_Mutation_p.P595L|RP4-694B14.5_ENST00000455791.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCATACAAAAGGCTGCTTGCC	0.498													34	117					0	0	0	0	A	25656044	G	A	25656044	3	1	364	1	0	0	0	0	1	0	0	0	17948	1000	35	4	379	4	ZNF337	20	25656044	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	157644	25656044	37369476	2040	70969											
DEFB115	245929	broad.mit.edu	37	chr20	29847382	29847382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgtgtccctaaagaaaagGataaactatcacacattcac	16	9	6	10	0	2	1	2	0	0	1	3	2	3	2	1	1	1	1	1	1	7	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:29847382G>A	ENST00000400552.1	+	2	214	c.214G>A	c.(214-216)Gat>Aat	p.D72N		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	72					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			TAAAGAAAAGGATAAACTATC	0.348													7	61					0	0	0	0	A	29847382	G	A	29847382	3	1	364	1	0	0	0	0	1	0	0	0	4440	1174	41	2	220	2	DEFB115	20	29847382	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4191338	29847382	33178138	2041	70970											
DEFB118	117285	broad.mit.edu	37	chr20	29960871	29960871	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttaacagtaaggttcacGacagactactttgaagtaag	15	12	8	6	1	1	2	1	1	0	1	1	3	1	2	0	1	2	3	0	1	5	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:29960871G>A	ENST00000253381.2	+	2	303	c.270G>A	c.(268-270)acG>acA	p.T90T		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	90					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TAAGGTTCACGACAGACTACT	0.453													15	109					0	0	0	0	A	29960871	G	A	29960871	2	1	364	1	0	0	0	0	0	0	0	1	4442	1045	37	1		1	DEFB118	20	29960871	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	113489	29960871	33064649	2042	70971											
DUSP15	128853	broad.mit.edu	37	chr20	30436629	30436629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtccgccatgatgagctgctCcttggggtgctgtgtggggc	3	11	17	10	1	0	2	0	2	0	0	2	2	2	2	3	4	3	3	3	4	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30436629C>T	ENST00000278979.3	-	9	782	c.706G>A	c.(706-708)Gag>Aag	p.E236K				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	236						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATGAGCTGCTCCTTGGGGTGC	0.607													6	23					0	0	0	0	T	30436629	C	T	30436629	3	4	364	1	0	0	0	0	1	0	0	0	4851	870	30	2		2	DUSP15	20	30436629	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	475758	30436629	32588891	2043	70972											
TTLL9	164395	broad.mit.edu	37	chr20	30486286	30486286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttgcagagagcagagaGcatcgatccggttcaagacc	11	8	12	10	2	2	3	1	0	1	3	4	6	3	3	2	1	3	4	2	1	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30486286G>A	ENST00000375938.4	+	4	377	c.124G>A	c.(124-126)Gca>Aca	p.A42T	TTLL9_ENST00000375934.4_Missense_Mutation_p.A24T|TTLL9_ENST00000310998.4_5'UTR|TTLL9_ENST00000535842.1_Missense_Mutation_p.A42T|TTLL9_ENST00000375922.4_5'UTR|TTLL9_ENST00000375921.2_5'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	42	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAGCAGAGAGCATCGATCCG	0.517													11	88					0	0	0	0	A	30486286	G	A	30486286	3	1	364	1	0	0	0	0	1	0	0	0	16830	971	34	4	134	4	TTLL9	20	30486286	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	49657	30486286	32539234	2044	70973											
TTLL9	164395	broad.mit.edu	37	chr20	30522680	30522680	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgacatcctcatcgaccaGgacctcaagccgtaagtggg	11	8	10	12	2	2	1	2	1	0	0	4	3	3	2	4	2	1	1	4	2	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30522680G>A	ENST00000375938.4	+	12	1246	c.993G>A	c.(991-993)caG>caA	p.Q331Q	TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000310998.4_Silent_p.Q296Q|TTLL9_ENST00000535842.1_Silent_p.Q331Q|TTLL9_ENST00000375922.4_Silent_p.Q273Q|TTLL9_ENST00000375921.2_Intron			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	331	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCATCGACCAGGACCTCAAGC	0.532													29	79					0	0	0	0	A	30522680	G	A	30522680	2	1	364	1	0	0	0	0	0	0	0	1	16830	991	35	4		4	TTLL9	20	30522680	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	36394	30522680	32502840	2045	70974											
TM9SF4	9777	broad.mit.edu	37	chr20	30730848	30730848	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggacatggaagaggacCaggagcacacgtaccgtgtc	12	4	16	9	2	0	1	0	0	0	1	1	6	0	6	2	5	2	2	2	5	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30730848C>T	ENST00000217315.5	+	6	881	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	TM9SF4_ENST00000398022.2_Nonsense_Mutation_p.Q198*			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	198						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAAGAGGACCAGGAGCACAC	0.562													50	54					0	0	0	0	T	30730848	C	T	30730848	4	4	364	1	0	0	0	0	0	1	0	0	16074	595	21	4	614	4	TM9SF4	20	30730848	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	208168	30730848	32294672	2046	70975											
PLAGL2	5326	broad.mit.edu	37	chr20	30784317	30784317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggccagacgtgaagacagGaggcaaggagtgcagaggcc	13	2	17	9	1	0	4	0	1	0	3	0	6	0	6	2	5	1	2	2	5	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30784317G>A	ENST00000246229.4	-	3	1693	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	477						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGAAGACAGGAGGCAAGGAG	0.582													25	55					0	0	0	0	A	30784317	G	A	30784317	3	1	364	1	0	0	0	0	1	0	0	0	12092	1174	41	2	65	2	PLAGL2	20	30784317	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	53469	30784317	32241203	2047	70976											
PLAGL2	5326	broad.mit.edu	37	chr20	30785254	30785254	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcctgggtactctcaaaGgtctgcaggcacaccttgca	9	8	12	12	0	2	0	1	0	2	0	3	0	2	0	2	4	3	4	2	4	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30785254G>A	ENST00000246229.4	-	3	756	c.492C>T	c.(490-492)acC>acT	p.T164T		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	164						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TACTCTCAAAGGTCTGCAGGC	0.617													6	31					0	0	0	0	A	30785254	G	A	30785254	2	1	364	1	0	0	0	0	0	0	0	1	12092	987	35	4		4	PLAGL2	20	30785254	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	937	30785254	32240266	2048	70977											
MYH7B	57644	broad.mit.edu	37	chr20	33568428	33568428	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcaacccctacaaatggctCccagtctatacggcctccgt	10	9	6	16	2	2	0	1	0	1	0	4	0	4	0	5	2	3	1	5	2	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:33568428C>T	ENST00000262873.7	+	6	608	c.516C>T	c.(514-516)ctC>ctT	p.L172L	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	130	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACAAATGGCTCCCAGTCTATA	0.512													27	242					0	0	0	0	T	33568428	C	T	33568428	2	4	364	1	0	0	0	0	0	0	0	1	10110	842	30	2		2	MYH7B	20	33568428	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2783174	33568428	29457092	2049	70978											
FAM83C	128876	broad.mit.edu	37	chr20	33875587	33875587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcttgggacatcaggcCtgaaggctagggccacaggg	8	6	18	9	0	1	1	1	1	0	0	1	2	1	2	2	7	0	2	2	7	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:33875587C>T	ENST00000374408.3	-	4	1091	c.995G>A	c.(994-996)aGg>aAg	p.R332K		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	332										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACATCAGGCCTGAAGGCTAG	0.652													6	9					0	0	0	0	T	33875587	C	T	33875587	3	4	364	1	0	0	0	0	1	0	0	0	5681	681	24	4	1252	4	FAM83C	20	33875587	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	307159	33875587	29149933	2050	70979											
PHF20	51230	broad.mit.edu	37	chr20	34451277	34451277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtccacaagaaaacttgaggGaacccaaaagaaaacgaggc	19	3	10	9	1	0	3	0	1	0	2	1	5	1	4	2	2	3	0	2	2	8	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:34451277G>A	ENST00000374012.3	+	6	892	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Intron			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAACTTGAGGGAACCCAAAAG	0.448													31	180					0	0	0	0	A	34451277	G	A	34451277	3	1	364	1	0	0	0	0	1	0	0	0	11903	1175	41	2	781	2	PHF20	20	34451277	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	575690	34451277	28574243	2051	70980											
PHF20	51230	broad.mit.edu	37	chr20	34487531	34487531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttcagacaagcccagccagGagaccctgaccaggaagcgg	12	3	12	14	1	1	3	1	1	0	2	1	5	1	4	4	3	3	0	4	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:34487531G>A	ENST00000374012.3	+	10	1651	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GCCCAGCCAGGAGACCCTGAC	0.537													26	62					0	0	0	0	A	34487531	G	A	34487531	3	1	364	1	0	0	0	0	1	0	0	0	11903	1175	41	2	1556	2	PHF20	20	34487531	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	36254	34487531	28537989	2052	70981											
RBL1	5933	broad.mit.edu	37	chr20	35632247	35632247	+	Missense_Mutation	SNP	G	G	A																															gttgtttaatatgtggaaaaGgagagagtggtggagcatcc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:35632247G>A	ENST00000373664.3	-	21	2960	c.2894C>T	c.(2893-2895)cCt>cTt	p.P965L	RBL1_ENST00000344359.3_Missense_Mutation_p.P965L	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	965					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				ATGTGGAAAAGGAGAGAGTGG	0.398													13	51					0	0	0	0	A	35632247	G	A	35632247	3	1	364	1	0	0	0	0	1	0	0	0	13191	1000	35	4	329	4	RBL1	20	35632247	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1144716	35632247	27393273	2053	70982	973	2									
RBL1	5933	broad.mit.edu	37	chr20	35632248	35632248	+	Missense_Mutation	SNP	G	G	A																															ttgtttaatatgtggaaaagGagagagtggtggagcatcca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:35632248G>A	ENST00000373664.3	-	21	2959	c.2893C>T	c.(2893-2895)Cct>Tct	p.P965S	RBL1_ENST00000344359.3_Missense_Mutation_p.P965S	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	965					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TGTGGAAAAGGAGAGAGTGGT	0.398													13	50					0	0	0	0	A	35632248	G	A	35632248	3	1	364	1	0	0	0	0	1	0	0	0	13191	1174	41	2	330	2	RBL1	20	35632248	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	35632248	27393272	2054	70983	973	2									
SRC	6714	broad.mit.edu	37	chr20	36012652	36012652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcgctggcgggggcgctttCcccgcctcgcagacccccag	3	5	15	18	5	0	1	0	0	0	1	2	1	1	1	5	4	0	3	5	4	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:36012652C>T	ENST00000373578.2	+	4	445	c.96C>T	c.(94-96)ttC>ttT	p.F32F	SRC_ENST00000373567.2_Silent_p.F32F|SRC_ENST00000373558.2_Silent_p.F32F|SRC_ENST00000445403.1_Silent_p.F32F|SRC_ENST00000360723.4_Silent_p.F32F|SRC_ENST00000358208.4_Silent_p.F32F	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	32					axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GGGGCGCTTTCCCCGCCTCGC	0.751													11	25					0	0	0	0	T	36012652	C	T	36012652	2	4	364	1	0	0	0	0	0	0	0	1	15224	854	30	2		2	SRC	20	36012652	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	380404	36012652	27012868	2055	70984											
KIAA1755	85449	broad.mit.edu	37	chr20	36855595	36855595	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctggagagccgcctcCttctcccccaggaagagaat	9	7	11	14	1	1	2	0	0	1	2	3	5	2	3	5	2	3	2	5	2	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:36855595C>T	ENST00000279024.4	-	7	2284	c.2013G>A	c.(2011-2013)aaG>aaA	p.K671K		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	671										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGCCGCCTCCTTCTCCCCCA	0.602													10	63					0	0	0	0	T	36855595	C	T	36855595	2	4	364	1	0	0	0	0	0	0	0	1	8308	680	24	4		4	KIAA1755	20	36855595	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	842943	36855595	26169925	2056	70985											
RALGAPB	57148	broad.mit.edu	37	chr20	37154598	37154598	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttatgataaaccaataactTttctgtccctgaagttgaga	13	14	6	8	0	1	3	0	3	1	1	2	4	2	3	2	0	2	1	2	0	6	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:37154598T>C	ENST00000262879.6	+	13	2247	c.1963T>C	c.(1963-1965)Ttt>Ctt	p.F655L	RALGAPB_ENST00000397042.3_Missense_Mutation_p.F655L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.F433L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.F655L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	655					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACCAATAACTTTTCTGTCCCT	0.363													40	101					0	0	0	0	C	37154598	T	C	37154598	3	2	364	1	0	0	0	0	1	0	0	0	13097	1841	64	5	2009	5	RALGAPB	20	37154598	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	299003	37154598	25870922	2057	70986											
PLCG1	5335	broad.mit.edu	37	chr20	39793697	39793697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggagatctctgccgacGggctcccctcacccaaccag	7	6	10	18	3	2	1	1	0	1	1	4	3	3	1	6	2	2	1	6	2	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:39793697G>A	ENST00000373272.2	+	13	1747	c.1342G>A	c.(1342-1344)Ggg>Agg	p.G448R	PLCG1_ENST00000244007.3_Missense_Mutation_p.G448R|PLCG1_ENST00000373271.1_Missense_Mutation_p.G448R	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	448	PI-PLC X-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTCTGCCGACGGGCTCCCCTC	0.597													13	31					0	0	0	0	A	39793697	G	A	39793697	3	1	364	1	0	0	0	0	1	0	0	0	12107	1116	39	1	1392	1	PLCG1	20	39793697	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2639099	39793697	23231823	2058	70987											
TOMM34	10953	broad.mit.edu	37	chr20	43572214	43572214	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttcaggaccaaatagcaGagtgctctgaagggaaagac	14	7	12	8	0	2	3	1	1	1	2	2	5	2	5	1	2	3	3	1	2	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:43572214G>A	ENST00000372813.3	-	6	857	c.705C>T	c.(703-705)ctC>ctT	p.L235L	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	235					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				CCAAATAGCAGAGTGCTCTGA	0.498													33	113					0	0	0	0	A	43572214	G	A	43572214	2	1	364	1	0	0	0	0	0	0	0	1	16451	929	33	2		2	TOMM34	20	43572214	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3778517	43572214	19453306	2059	70988											
DNTTIP1	116092	broad.mit.edu	37	chr20	44430653	44430653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcagaggaaaggacggcctCctggacacatcctgtcaagc	11	5	13	12	1	1	1	1	0	0	1	3	4	3	4	3	5	1	1	3	5	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:44430653C>T	ENST00000372622.3	+	7	582	c.514C>T	c.(514-516)Cct>Tct	p.P172S		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	172						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGGACGGCCTCCTGGACACAT	0.602													34	114					0	0	0	0	T	44430653	C	T	44430653	3	4	364	1	0	0	0	0	1	0	0	0	4717	855	30	2	540	2	DNTTIP1	20	44430653	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	858439	44430653	18594867	2060	70989											
PCIF1	63935	broad.mit.edu	37	chr20	44574858	44574858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgttcggcgtgggccTctacgaggggactggcctgc	5	9	17	10	3	1	1	0	1	1	0	2	4	1	2	2	5	2	1	2	5	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:44574858T>C	ENST00000372409.3	+	14	1812	c.1448T>C	c.(1447-1449)cTc>cCc	p.L483P	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	483						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GGCGTGGGCCTCTACGAGGGG	0.667													12	93					0	0	0	0	C	44574858	T	C	44574858	3	2	364	1	0	0	0	0	1	0	0	0	11651	1551	54	5	1494	5	PCIF1	20	44574858	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	144205	44574858	18450662	2061	70990											
CD40	958	broad.mit.edu	37	chr20	44750928	44750928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacggaatgccttccttgcGgtgaaagcgaattcctagac	12	9	10	10	3	0	2	0	1	0	1	2	4	2	3	3	2	4	0	3	2	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:44750928G>A	ENST00000372285.3	+	3	259	c.187G>A	c.(187-189)Ggt>Agt	p.G63S	CD40_ENST00000372276.3_Missense_Mutation_p.G63S|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	63					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CCTTCCTTGCGGTGAAAGCGA	0.537									Immune Deficiency with Hyper-IgM				10	106					0	0	0	0	A	44750928	G	A	44750928	3	1	364	1	0	0	0	0	1	0	0	0	3044	1116	39	1	197	1	CD40	20	44750928	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	176070	44750928	18274592	2062	70991											
SLC2A10	81031	broad.mit.edu	37	chr20	45354665	45354665	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactcaggcccaagctgtctGgctgtgcccaatgccaccgg	7	7	12	15	1	2	0	1	0	1	0	2	1	2	0	4	3	3	2	4	3	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:45354665G>C	ENST00000359271.2	+	2	1240	c.990G>C	c.(988-990)ctG>ctC	p.L330L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	330						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CAAGCTGTCTGGCTGTGCCCA	0.622													20	72					0	0	0	0	C	45354665	G	C	45354665	2	2	364	1	0	0	0	0	0	0	0	1	14627	1335	47	4		4	SLC2A10	20	45354665	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	603737	45354665	17670855	2063	70992											
ZMYND8	23613	broad.mit.edu	37	chr20	45874948	45874948	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggttttgccttttcGgaaaagtccttctcaggctc	7	14	11	9	1	1	1	1	1	1	0	5	2	2	2	2	4	1	2	2	4	3	5	rs143651717	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:45874948G>A	ENST00000311275.7	-	14	2281	c.2028C>T	c.(2026-2028)tcC>tcT	p.S676S	ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000446994.2_Silent_p.S613S|ZMYND8_ENST00000461685.1_Silent_p.S696S|ZMYND8_ENST00000536340.1_Silent_p.S703S|ZMYND8_ENST00000355972.4_Silent_p.S676S|ZMYND8_ENST00000352431.2_Silent_p.S696S|ZMYND8_ENST00000396281.4_Silent_p.S676S|ZMYND8_ENST00000360911.3_Silent_p.S671S|ZMYND8_ENST00000262975.4_Silent_p.S676S|ZMYND8_ENST00000458360.2_Silent_p.S671S|ZMYND8_ENST00000540497.1_Silent_p.S624S|ZMYND8_ENST00000471951.2_Silent_p.S696S|ZMYND8_ENST00000372023.3_Silent_p.S671S			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	676							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTGCCTTTTCGGAAAAGTCCT	0.512													43	249					0	0	0	0	A	45874948	G	A	45874948	2	1	364	1	0	0	0	0	0	0	0	1	17806	1103	39	1		1	ZMYND8	20	45874948	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	520283	45874948	17150572	2064	70993											
ARFGEF2	10564	broad.mit.edu	37	chr20	47587686	47587686	+	Missense_Mutation	SNP	C	C	T																															gctgcgttccaaggtggtttCcctgcagctgctcctctctg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:47587686C>T	ENST00000371917.4	+	10	1220	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	407					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAGGTGGTTTCCCTGCAGCTG	0.448													41	116					0	0	0	0	T	47587686	C	T	47587686	3	4	364	1	0	0	0	0	1	0	0	0	855	855	30	2	1258	2	ARFGEF2	20	47587686	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1712738	47587686	15437834	2065	70994	974	2									
ARFGEF2	10564	broad.mit.edu	37	chr20	47587687	47587687	+	Silent	SNP	C	C	T																															ctgcgttccaaggtggtttcCctgcagctgctcctctctgt																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:47587687C>T	ENST00000371917.4	+	10	1221	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	407					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGGTGGTTTCCCTGCAGCTGC	0.443													40	120					0	0	0	0	T	47587687	C	T	47587687	2	4	364	1	0	0	0	0	0	0	0	1	855	610	22	4		4	ARFGEF2	20	47587687	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	47587687	15437833	2066	70995	974	2									
KCNG1	3755	broad.mit.edu	37	chr20	49620884	49620884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcccaccagtagcaggcagGgatgctggtgaactcggggc	9	5	16	11	1	0	1	0	1	0	0	1	2	0	2	2	5	4	4	2	5	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:49620884G>A	ENST00000371571.4	-	3	1519	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	412						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TAGCAGGCAGGGATGCTGGTG	0.647													10	56					0	0	0	0	A	49620884	G	A	49620884	3	1	364	1	0	0	0	0	1	0	0	0	8080	1232	43	4	311	4	KCNG1	20	49620884	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2033197	49620884	13404636	2067	70996											
SALL4	57167	broad.mit.edu	37	chr20	50407413	50407413	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggggtcccactcccttGgaagccaccagcccttgggg	6	7	12	16	0	1	0	1	0	0	0	3	1	3	1	5	5	2	0	5	5	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:50407413G>A	ENST00000217086.4	-	2	1720	c.1609C>T	c.(1609-1611)Caa>Taa	p.Q537*	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	537					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCACTCCCTTGGAAGCCACCA	0.582													86	124					0	0	0	0	A	50407413	G	A	50407413	4	1	364	1	0	0	0	0	0	1	0	0	13898	1357	47	4	1564	4	SALL4	20	50407413	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	786529	50407413	12618107	2068	70997											
BCAS1	8537	broad.mit.edu	37	chr20	52609099	52609099	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctagcctggggctatcCaggtgctttttcttggtgcc	4	14	12	11	0	1	0	0	0	1	0	3	0	3	0	4	4	3	2	4	4	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:52609099C>T	ENST00000371440.3	-	7	1351	c.1014G>A	c.(1012-1014)ctG>ctA	p.L338L	BCAS1_ENST00000395961.3_Intron|BCAS1_ENST00000434986.2_Silent_p.L51L|BCAS1_ENST00000371435.2_Intron			O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	309						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGGGGCTATCCAGGTGCTTTT	0.463													9	74					0	0	0	0	T	52609099	C	T	52609099	2	4	364	1	0	0	0	0	0	0	0	1	1354	609	21	4		4	BCAS1	20	52609099	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2201686	52609099	10416421	2069	70998											
ZBP1	81030	broad.mit.edu	37	chr20	56190040	56190040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggttcacatcttttgctgtCctcattcccagtgcttgggc	4	15	9	13	1	3	0	2	0	1	0	5	0	5	0	2	2	2	3	2	2	0	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:56190040C>A	ENST00000340462.4	-	3	616	c.336G>T	c.(334-336)agG>agT	p.R112S	ZBP1_ENST00000371173.3_Missense_Mutation_p.R135S|ZBP1_ENST00000395822.3_Missense_Mutation_p.R60S|ZBP1_ENST00000541799.1_Missense_Mutation_p.R135S|ZBP1_ENST00000343535.4_Missense_Mutation_p.R135S			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	135						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTTTTGCTGTCCTCATTCCCA	0.542													119	171					9.79165e-58	1.0234e-57	1	0	A	56190040	C	A	56190040	3	1	364	1	0	0	0	0	1	0	0	0	17616	854	30	2	981	2	ZBP1	20	56190040	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3580941	56190040	6835480	2070	70999											
VAPB	9217	broad.mit.edu	37	chr20	57015992	57015992	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaataaataaaattatatcCacaactgcatcaaagacaga	22	8	4	7	0	1	2	1	0	0	2	2	3	2	2	1	0	2	1	1	0	9	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:57015992C>T	ENST00000475243.1	+	5	764	c.426C>T	c.(424-426)tcC>tcT	p.S142S	VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	142					cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			AAATTATATCCACAACTGCAT	0.348													6	43					0	0	0	0	T	57015992	C	T	57015992	2	4	364	1	0	0	0	0	0	0	0	1	17218	581	21	4		4	VAPB	20	57015992	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	825952	57015992	6009528	2071	71000											
ZNF831	128611	broad.mit.edu	37	chr20	57767538	57767538	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccctcttcttccactccgtCcccactcagctctccaccac	5	10	2	24	1	4	0	1	0	3	0	8	0	7	0	8	0	1	1	8	0	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:57767538C>T	ENST00000371030.2	+	1	1464	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	488						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCACTCCGTCCCCACTCAGC	0.697													24	33					0	0	0	0	T	57767538	C	T	57767538	2	4	364	1	0	0	0	0	0	0	0	1	18278	842	30	2		2	ZNF831	20	57767538	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	751546	57767538	5257982	2072	71001											
C20orf197	284756	broad.mit.edu	37	chr20	58645826	58645826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggacttctgcagtcaagaGagctgggaaactcttggaca	12	8	13	8	0	3	1	1	0	2	1	3	5	3	4	0	3	3	2	0	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:58645826G>A	ENST00000313426.1	+	4	550	c.244G>A	c.(244-246)Gag>Aag	p.E82K		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	82										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			GCAGTCAAGAGAGCTGGGAAA	0.468													5	57					0	0	0	0	A	58645826	G	A	58645826	3	1	364	1	0	0	0	0	1	0	0	0	2122	943	33	2	250	2	C20orf197	20	58645826	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	878288	58645826	4379694	2073	71002											
COL9A3	1299	broad.mit.edu	37	chr20	61451328	61451328	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacccaagggtgcccctggGgaacgggtaagtgcctgcgc	7	5	17	12	2	0	0	0	0	0	0	0	2	0	2	4	5	4	1	4	5	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61451328G>A	ENST00000343916.3	+	5	306	c.303G>A	c.(301-303)ggG>ggA	p.G101G		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	101	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GTGCCCCTGGGGAACGGGTAA	0.662													10	88					0	0	0	0	A	61451328	G	A	61451328	2	1	364	1	0	0	0	0	0	0	0	1	3739	1219	43	4		4	COL9A3	20	61451328	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2805502	61451328	1574192	2074	71003											
DIDO1	11083	broad.mit.edu	37	chr20	61511582	61511582	+	Missense_Mutation	SNP	G	G	A																															tctgacctccaaactgagagGgaggggggccgcctcggggg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61511582G>A	ENST00000266070.4	-	16	6051	c.5726C>T	c.(5725-5727)cCc>cTc	p.P1909L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1909L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1909	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AAACTGAGAGGGAGGGGGGCC	0.647													16	74					0	0	0	0	A	61511582	G	A	61511582	3	1	364	1	0	0	0	0	1	0	0	0	4559	1232	43	4	1000	4	DIDO1	20	61511582	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	60254	61511582	1513938	2075	71004	975	2									
DIDO1	11083	broad.mit.edu	37	chr20	61511583	61511583	+	Missense_Mutation	SNP	G	G	A																															ctgacctccaaactgagaggGaggggggccgcctcgggggc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61511583G>A	ENST00000266070.4	-	16	6050	c.5725C>T	c.(5725-5727)Ccc>Tcc	p.P1909S	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1909S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1909	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AACTGAGAGGGAGGGGGGCCG	0.642													14	73					0	0	0	0	A	61511583	G	A	61511583	3	1	364	1	0	0	0	0	1	0	0	0	4559	1174	41	2	1001	2	DIDO1	20	61511583	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	61511583	1513937	2076	71005	975	2									
COL20A1	57642	broad.mit.edu	37	chr20	61950421	61950421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccacagtgacgtctaccCagcccccctacctccagagc	8	5	6	22	1	1	2	0	1	1	1	2	2	2	2	8	0	4	0	8	0	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61950421C>T	ENST00000422202.1	+	21	2764	c.2696C>T	c.(2695-2697)cCa>cTa	p.P899L	COL20A1_ENST00000358894.6_Missense_Mutation_p.P892L|COL20A1_ENST00000435874.1_Missense_Mutation_p.P899L|COL20A1_ENST00000326996.6_Missense_Mutation_p.P892L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	892	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GACGTCTACCCAGCCCCCCTA	0.657													12	47					0	0	0	0	T	61950421	C	T	61950421	3	4	364	1	0	0	0	0	1	0	0	0	3709	594	21	4	2757	4	COL20A1	20	61950421	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	438838	61950421	1075099	2077	71006											
CHRNA4	1137	broad.mit.edu	37	chr20	61978201	61978201	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgaccatggccacgtacttCcagtcctccttcacctgcaa	9	10	6	16	1	1	1	1	1	0	0	4	1	4	1	6	1	2	2	6	1	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61978201C>T	ENST00000370263.4	-	6	1994	c.1773G>A	c.(1771-1773)tgG>tgA	p.W591*	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	591					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCACGTACTTCCAGTCCTCCT	0.682													41	48					0	0	0	0	T	61978201	C	T	61978201	4	4	364	1	0	0	0	0	0	1	0	0	3414	856	30	2	114	2	CHRNA4	20	61978201	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	27780	61978201	1047319	2078	71007											
CHRNA4	1137	broad.mit.edu	37	chr20	61981710	61981710	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaggagcaggcgtggcacGatgtccaggaagaccctgcg	10	5	16	10	3	0	2	0	1	0	1	1	5	1	4	2	4	2	2	2	4	1	0	rs61737042	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61981710G>A	ENST00000370263.4	-	5	1274	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	351					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGCGTGGCACGATGTCCAGGA	0.632													32	34					0	0	0	0	A	61981710	G	A	61981710	2	1	364	1	0	0	0	0	0	0	0	1	3414	1048	37	1		1	CHRNA4	20	61981710	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3509	61981710	1043810	2079	71008											
PRPF6	24148	broad.mit.edu	37	chr20	62630979	62630979	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaagaaggcgcgactgcTcctcaagtctgttcgggaga	10	9	12	10	3	3	2	2	0	1	2	5	4	4	2	1	2	1	2	1	2	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:62630979T>A	ENST00000535781.1	+	8	1001	c.890T>A	c.(889-891)cTc>cAc	p.L297H	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	297					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GCGCGACTGCTCCTCAAGTCT	0.592													23	113					0	0	0	0	A	62630979	T	A	62630979	3	1	364	1	0	0	0	0	1	0	0	0	12654	1551	54	5	920	5	PRPF6	20	62630979	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	649269	62630979	394541	2080	71009											
TPTE	7179	broad.mit.edu	37	chr21	10910350	10910350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcatcatacagaggtagaCcgtcgaatacatcaattaat	16	10	6	9	2	3	2	3	0	0	2	4	3	3	2	1	1	2	1	1	1	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:10910350C>T	ENST00000298232.7	-	21	1719	c.1352G>A	c.(1351-1353)gGt>gAt	p.G451D	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.G431D|TPTE_ENST00000361285.4_Missense_Mutation_p.G469D	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	469	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGAGGTAGACCGTCGAATAC	0.343													7	79					0	0	0	0	T	10910350	C	T	10910350	3	4	364	1	0	0	0	0	1	0	0	0	16525	507	18	4	261	4	TPTE	21	10910350	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08		10910350	37219545	2081	71010											
BAGE2	85319	broad.mit.edu	37	chr21	11047597	11047597	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctatcttctcccgattgtcTaaaaagtaagatagcattaa	14	13	6	8	1	3	1	0	0	3	1	4	2	3	1	1	0	1	3	1	0	7	7	rs61660722		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:11047597T>G	ENST00000470054.1	-	0	659									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCCGATTGTCTAAAAAGTAAG	0.353													30	390					0	0	0	0	G	11047597	T	G	11047597	1	3	364	0	1	0	0	0	0	0	0	0	1296	1536	53	5		5	BAGE2	21	11047597	RNA	SNP	T	TCGA-D6-6516-01A-11D-1870-08	137247	11047597	37082298	2082	71011											
SAMSN1	64092	broad.mit.edu	37	chr21	15858399	15858399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggagatgtctgagctcaagGataggggctcaggttcattt	10	11	14	6	0	4	2	3	1	1	1	4	4	4	3	0	5	1	3	0	5	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:15858399G>A	ENST00000285670.2	-	9	1334	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	SAMSN1_ENST00000400564.1_Missense_Mutation_p.S151F|SAMSN1_ENST00000400566.1_Missense_Mutation_p.S319F	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	319					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TGAGCTCAAGGATAGGGGCTC	0.393													6	30					0	0	0	0	A	15858399	G	A	15858399	3	1	364	1	0	0	0	0	1	0	0	0	13915	1174	41	2	169	2	SAMSN1	21	15858399	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	4810802	15858399	32271496	2083	71012											
NCAM2	4685	broad.mit.edu	37	chr21	22841080	22841080	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggaggggcccctattttGgaatacattgtgaaatatag	12	12	12	5	0	0	1	0	1	0	0	0	4	0	3	2	4	1	0	2	4	6	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:22841080G>A	ENST00000400546.1	+	14	2121	c.1872G>A	c.(1870-1872)ttG>ttA	p.L624L	NCAM2_ENST00000284894.7_Silent_p.L482L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	624	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCCCTATTTTGGAATACATTG	0.378													8	23					0	0	0	0	A	22841080	G	A	22841080	2	1	364	1	0	0	0	0	0	0	0	1	10273	1339	47	4		4	NCAM2	21	22841080	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	6982681	22841080	25288815	2084	71013											
GRIK1	2897	broad.mit.edu	37	chr21	30927416	30927416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgatttgtatatgaattctCcaatagctacaaatacagaa	16	13	6	6	0	1	3	0	2	1	1	2	3	1	3	1	0	3	2	1	0	9	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:30927416C>T	ENST00000399914.1	-	15	3040	c.2519G>A	c.(2518-2520)gGa>gAa	p.G840E	GRIK1_ENST00000389124.2_Missense_Mutation_p.G855E|GRIK1_ENST00000399913.1_Missense_Mutation_p.G855E|GRIK1_ENST00000399907.1_Missense_Mutation_p.G855E|GRIK1_ENST00000399909.1_Missense_Mutation_p.G840E|GRIK1_ENST00000389125.3_Missense_Mutation_p.G840E|GRIK1_ENST00000535441.1_Missense_Mutation_p.G857E|GRIK1_ENST00000309434.7_Missense_Mutation_p.G857E|GRIK1_ENST00000327783.4_Missense_Mutation_p.G855E			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	855					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TATGAATTCTCCAATAGCTAC	0.398													13	45					0	0	0	0	T	30927416	C	T	30927416	3	4	364	1	0	0	0	0	1	0	0	0	6823	855	30	2	360	2	GRIK1	21	30927416	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	8086336	30927416	17202479	2085	71014											
GRIK1	2897	broad.mit.edu	37	chr21	30963489	30963489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcagtgatattgctggaCttgtctttgttgctgtccgt	6	17	11	7	1	2	1	1	1	1	0	3	3	3	2	1	1	2	3	1	1	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:30963489C>A	ENST00000399914.1	-	9	1784	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	GRIK1_ENST00000389124.2_Missense_Mutation_p.K436N|GRIK1_ENST00000399913.1_Missense_Mutation_p.K436N|GRIK1_ENST00000399907.1_Missense_Mutation_p.K436N|GRIK1_ENST00000399909.1_Missense_Mutation_p.K421N|GRIK1_ENST00000389125.3_Missense_Mutation_p.K421N|GRIK1_ENST00000535441.1_Missense_Mutation_p.K438N|GRIK1_ENST00000309434.7_Missense_Mutation_p.K438N|GRIK1_ENST00000327783.4_Missense_Mutation_p.K436N			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	436					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TATTGCTGGACTTGTCTTTGT	0.463													23	71					1.42536e-11	1.46153e-11	1	0	A	30963489	C	A	30963489	3	1	364	1	0	0	0	0	1	0	0	0	6823	564	20	4	1640	4	GRIK1	21	30963489	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	36073	30963489	17166406	2086	71015											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768437	31768437	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctctggaaacttctcCtcccgctcctgtggtggcta	4	13	10	14	1	2	0	0	0	2	0	5	1	4	1	3	3	3	4	3	3	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31768437C>T	ENST00000355459.2	+	1	46	c.33C>T	c.(31-33)tcC>tcT	p.S11S		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	11						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAAACTTCTCCTCCCGCTCCT	0.537													43	128					0	0	0	0	T	31768437	C	T	31768437	2	4	364	1	0	0	0	0	0	0	0	1	8574	668	24	4		4	KRTAP13-1	21	31768437	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	804948	31768437	16361458	2087	71016											
KRTAP19-4	337971	broad.mit.edu	37	chr21	31869219	31869219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcttatgacctctgatatCgtgtcctcagggtaggattt	7	16	9	9	1	3	2	1	2	2	0	5	3	4	3	2	2	0	1	2	2	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31869219C>T	ENST00000334058.2	-	1	232	c.210G>A	c.(208-210)acG>acA	p.T70T		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	70						intermediate filament				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCTCTGATATCGTGTCCTCAG	0.408													33	101					0	0	0	0	T	31869219	C	T	31869219	2	4	364	1	0	0	0	0	0	0	0	1	8583	871	31	1		1	KRTAP19-4	21	31869219	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	100782	31869219	16260676	2088	71017											
KRTAP19-7	337974	broad.mit.edu	37	chr21	31933443	31933443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatccagaagaccagtatcCcccatagcatgatgggtggc	12	7	11	11	0	0	3	0	1	0	2	2	4	2	3	4	2	1	2	4	2	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31933443C>T	ENST00000334849.2	-	1	190	c.166G>A	c.(166-168)Gga>Aga	p.G56R		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	56						intermediate filament				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						GACCAGTATCCCCCATAGCAT	0.443													25	92					0	0	0	0	T	31933443	C	T	31933443	3	4	364	1	0	0	0	0	1	0	0	0	8586	632	22	4	28	4	KRTAP19-7	21	31933443	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	64224	31933443	16196452	2089	71018											
KRTAP20-1	337975	broad.mit.edu	37	chr21	31988934	31988934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaagatattggtcatatgGtttctactgaacaattctag	12	15	9	5	0	3	2	1	1	2	1	3	3	3	3	0	3	2	1	0	3	7	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31988934G>T	ENST00000334664.2	+	1	185	c.161G>T	c.(160-162)gGt>gTt	p.G54V		NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	54						intermediate filament				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						TGGTCATATGGTTTCTACTGA	0.448													26	61					4.7796e-09	4.87689e-09	1	0	T	31988934	G	T	31988934	3	4	364	1	0	0	0	0	1	0	0	0	8588	1261	44	4	163	4	KRTAP20-1	21	31988934	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	55491	31988934	16140961	2090	71019											
TCP10L	140290	broad.mit.edu	37	chr21	33954558	33954558	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggacgctgcagatttcttCctggctttccaccgctgcag	5	11	12	13	2	1	1	0	0	1	1	3	2	3	2	3	3	2	5	3	3	0	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:33954558C>T	ENST00000300258.3	-	3	425	c.312G>A	c.(310-312)agG>agA	p.R104R	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						CAGATTTCTTCCTGGCTTTCC	0.493													27	96					0	0	0	0	T	33954558	C	T	33954558	2	4	364	1	0	0	0	0	0	0	0	1	15805	854	30	2		2	TCP10L	21	33954558	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1965624	33954558	14175337	2091	71020											
C21orf59	56683	broad.mit.edu	37	chr21	33975426	33975426	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acatttttatcagtttgaagGgaaataacaaaaactactga	18	12	6	5	0	1	2	1	2	0	0	1	3	1	3	0	1	3	1	0	1	7	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:33975426G>A	ENST00000382549.4	-	5	1053	c.711C>T	c.(709-711)tcC>tcT	p.S237S	C21orf59_ENST00000540881.1_Silent_p.S181S|C21orf59_ENST00000290155.3_Intron|C21ORF59_ENST00000607686.1_Intron			P57076	CU059_HUMAN	chromosome 21 open reading frame 59	0						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						CAGTTTGAAGGGAAATAACAA	0.313													12	38					0	0	0	0	A	33975426	G	A	33975426	2	1	364	1	0	0	0	0	0	0	0	1	2150	1247	43	4		4	C21orf59	21	33975426	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	20868	33975426	14154469	2092	71021											
IFNAR1	3454	broad.mit.edu	37	chr21	34727665	34727665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatcttctgctttcaacttCtgaggaacaaatcgaaaaat	15	12	6	8	1	4	1	1	1	3	0	5	4	4	2	0	1	3	1	0	1	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:34727665C>T	ENST00000270139.3	+	11	1636	c.1484C>T	c.(1483-1485)tCt>tTt	p.S495F	IFNAR1_ENST00000416947.2_Missense_Mutation_p.S426F|IFNAR1_ENST00000442357.2_Missense_Mutation_p.S434F	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	495					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTTTCAACTTCTGAGGAACAA	0.264													14	51					0	0	0	0	T	34727665	C	T	34727665	3	4	364	1	0	0	0	0	1	0	0	0	7597	913	32	2	1526	2	IFNAR1	21	34727665	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	752239	34727665	13402230	2093	71022											
SON	6651	broad.mit.edu	37	chr21	34921999	34921999	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagatttagaatctgattcCtttttaaagtttgattctga	12	19	6	4	0	2	5	0	3	2	2	3	5	3	5	1	0	0	1	1	0	5	9			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:34921999C>T	ENST00000356577.4	+	3	937	c.462C>T	c.(460-462)tcC>tcT	p.S154S	SON_ENST00000381679.4_Silent_p.S154S|SON_ENST00000290239.6_Silent_p.S154S|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.S154S	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	154					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.S154S(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AATCTGATTCCTTTTTAAAGT	0.398													4	25					0	0	0	0	T	34921999	C	T	34921999	2	4	364	1	0	0	0	0	0	0	0	1	15014	668	24	4		4	SON	21	34921999	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	194334	34921999	13207896	2094	71023											
DONSON	29980	broad.mit.edu	37	chr21	34957051	34957051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctgctggaaggtacaacgGagctcagaggagagtttggg	10	8	16	7	1	2	2	1	0	1	2	2	5	2	4	0	5	4	4	0	5	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:34957051G>A	ENST00000429238.1	-	5	513	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S	DONSON_ENST00000303071.5_Silent_p.L210L|DONSON_ENST00000453626.1_Silent_p.L210L|DONSON_ENST00000432378.1_Silent_p.L210L|DONSON_ENST00000303113.6_Intron																							AGGTACAACGGAGCTCAGAGG	0.438													13	28					0	0	0	0	A	34957051	G	A	34957051	3	1	364	1	0	0	0	0	1	0	0	0	4742	1161	41	2	1098	2	DONSON	21	34957051	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	35052	34957051	13172844	2095	71024											
DOPEY2	9980	broad.mit.edu	37	chr21	37618783	37618783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtcttctggtctctgCggtggtgaggggtctgcagc	3	11	17	10	1	4	1	0	1	4	0	5	1	4	1	1	6	3	1	1	6	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:37618783C>T	ENST00000399151.3	+	19	4590	c.4505C>T	c.(4504-4506)gCg>gTg	p.A1502V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1502					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGGTCTCTGCGGTGGTGAGG	0.652													5	36					0	0	0	0	T	37618783	C	T	37618783	3	4	364	1	0	0	0	0	1	0	0	0	4744	768	27	1	4575	1	DOPEY2	21	37618783	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2661732	37618783	10511112	2096	71025											
TTC3	7267	broad.mit.edu	37	chr21	38461125	38461125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcttctgagataaattTgaagaaactacaacatcttg	15	12	7	7	1	2	3	0	2	2	2	2	4	2	3	0	0	4	1	0	0	6	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:38461125T>C	ENST00000399017.2	+	5	3112	c.365T>C	c.(364-366)tTg>tCg	p.L122S	TTC3_ENST00000354749.2_Missense_Mutation_p.L122S|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000399010.1_Missense_Mutation_p.L122S|TTC3_ENST00000355666.1_Missense_Mutation_p.L122S|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	122					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GAGATAAATTTGAAGAAACTA	0.328													7	25					0	0	0	0	C	38461125	T	C	38461125	3	2	364	1	0	0	0	0	1	0	0	0	16793	1821	63	5	379	5	TTC3	21	38461125	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	842342	38461125	9668770	2097	71026											
TTC3	7267	broad.mit.edu	37	chr21	38538152	38538152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caactgaatccagctgctagGgaatttaaaccagatgtaaa	16	9	8	8	0	0	2	0	1	0	1	1	3	1	3	2	1	4	3	2	1	8	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:38538152G>A	ENST00000399017.2	+	33	6383	c.3636G>A	c.(3634-3636)agG>agA	p.R1212R	TTC3_ENST00000354749.2_Silent_p.R1212R|TTC3_ENST00000355666.1_Silent_p.R1212R|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1212					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGCTGCTAGGGAATTTAAAC	0.363													20	51					0	0	0	0	A	38538152	G	A	38538152	2	1	364	1	0	0	0	0	0	0	0	1	16793	1223	43	4		4	TTC3	21	38538152	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	77027	38538152	9591743	2098	71027											
DSCAM	1826	broad.mit.edu	37	chr21	42080587	42080587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatctgagagtcacaggagGgatgcctgctgcggggcagg	8	6	17	10	1	2	1	1	1	1	1	2	4	2	3	2	5	3	2	2	5	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:42080587G>A	ENST00000400454.1	-	2	631	c.154C>T	c.(154-156)Cct>Tct	p.P52S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	52	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTCACAGGAGGGATGCCTGCT	0.592													21	78					0	0	0	0	A	42080587	G	A	42080587	3	1	364	1	0	0	0	0	1	0	0	0	4804	1232	43	4	6012	4	DSCAM	21	42080587	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	3542435	42080587	6049308	2099	71028											
ABCG1	9619	broad.mit.edu	37	chr21	43708321	43708321	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcttgcgtgtgtcctcagGactcctcgtccatggaaggc	5	11	11	14	2	2	0	1	0	1	0	6	2	5	2	4	3	1	0	4	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:43708321G>A	ENST00000398437.1	+	11	1745	c.1596_splice	c.e11-1	p.D533_splice	ABCG1_ENST00000398457.2_Splice_Site_p.D377_splice|ABCG1_ENST00000347800.2_Splice_Site_p.D372_splice|ABCG1_ENST00000398449.3_Splice_Site_p.D375_splice|ABCG1_ENST00000361802.2_Splice_Site_p.D387_splice|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Splice_Site_p.D495_splice|ABCG1_ENST00000343687.3_Splice_Site_p.D386_splice			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	387	ABC transmembrane type-2.			R -> A (in Ref. 8; AAC51098).	amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTGTCCTCAGGACTCCTCGTC	0.602													16	29					0	0	0	0	A	43708321	G	A	43708321	5	1	364	1	0	0	0	0	0	0	1	0	68	1188	41	2	1365	2	ABCG1	21	43708321	Splice_Site	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1627734	43708321	4421574	2100	71029											
RRP1	8568	broad.mit.edu	37	chr21	45213238	45213238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttctggcagaccatgaatCgcgagtggacgggcattgac	9	8	13	11	3	1	3	0	2	1	1	2	5	1	4	2	3	0	2	2	3	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45213238C>T	ENST00000497547.1	+	4	430	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C		NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	105					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GACCATGAATCGCGAGTGGAC	0.617													23	86					0	0	0	0	T	45213238	C	T	45213238	3	4	364	1	0	0	0	0	1	0	0	0	13770	884	31	1	327	1	RRP1	21	45213238	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1504917	45213238	2916657	2101	71030											
DNMT3L	29947	broad.mit.edu	37	chr21	45668976	45668976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggatccgccgtggacatctgGgatggtgactggctccatct	6	10	14	11	2	2	1	0	1	2	0	4	4	4	4	3	5	0	1	3	5	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45668976G>A	ENST00000270172.3	-	11	1411	c.928C>T	c.(928-930)Cca>Tca	p.P310S	DNMT3L_ENST00000418993.1_Missense_Mutation_p.P310S	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	310					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TGGACATCTGGGATGGTGACT	0.642													6	21					0	0	0	0	A	45668976	G	A	45668976	3	1	364	1	0	0	0	0	1	0	0	0	4714	1232	43	4	243	4	DNMT3L	21	45668976	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	455738	45668976	2460919	2102	71031											
AIRE	326	broad.mit.edu	37	chr21	45708290	45708290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcctccggggacgtcccgGgagcccgaggggccgtggag	4	5	19	13	5	0	0	0	0	0	0	3	4	3	3	5	6	1	0	5	6	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45708290G>A	ENST00000291582.5	+	5	728	c.601G>A	c.(601-603)Gga>Aga	p.G201R		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	201	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGACGTCCCGGGAGCCCGAGG	0.642									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				19	73					0	0	0	0	A	45708290	G	A	45708290	3	1	364	1	0	0	0	0	1	0	0	0	437	1233	43	4	619	4	AIRE	21	45708290	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	39314	45708290	2421605	2103	71032											
TRPM2	7226	broad.mit.edu	37	chr21	45833900	45833900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacggtcctcctactctGcctctacctgctcttcacca	5	12	6	18	1	4	1	1	1	3	0	6	1	6	1	5	1	4	2	5	1	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45833900G>T	ENST00000397928.1	+	20	3534	c.3089G>T	c.(3088-3090)tGc>tTc	p.C1030F	TRPM2_ENST00000300482.5_Missense_Mutation_p.C1030F|TRPM2_ENST00000397932.2_Missense_Mutation_p.C1030F|TRPM2_ENST00000300481.9_Missense_Mutation_p.C1010F|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1030						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTCCTACTCTGCCTCTACCTG	0.647													56	246					9.04393e-38	9.43791e-38	1	0	T	45833900	G	T	45833900	3	4	364	1	0	0	0	0	1	0	0	0	16681	1319	46	4	3167	4	TRPM2	21	45833900	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	125610	45833900	2295995	2104	71033											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45993969	45993969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccagcaggcctgctgcgtgCccgtctgctgcaagactgtc	5	8	13	15	2	1	1	0	0	1	1	2	1	1	1	3	1	6	4	3	1	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45993969C>T	ENST00000400374.3	+	1	364	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	112	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CTGCTGCGTGCCCGTCTGCTG	0.637													11	67					0	0	0	0	T	45993969	C	T	45993969	3	4	364	1	0	0	0	0	1	0	0	0	8563	739	26	4	336	4	KRTAP10-4	21	45993969	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	160069	45993969	2135926	2105	71034											
KRTAP12-3	386683	broad.mit.edu	37	chr21	46078117	46078117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccctcttgccaatcttcggGgtgctgccagcccccctgca	4	10	9	18	1	2	0	0	0	2	0	4	0	3	0	6	2	5	2	6	2	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46078117G>A	ENST00000397907.1	+	1	269	c.221G>A	c.(220-222)gGg>gAg	p.G74E	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	74	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAATCTTCGGGGTGCTGCCAG	0.642													28	59					0	0	0	0	A	46078117	G	A	46078117	3	1	364	1	0	0	0	0	1	0	0	0	8572	1232	43	4	223	4	KRTAP12-3	21	46078117	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	84148	46078117	2051778	2106	71035											
ITGB2	3689	broad.mit.edu	37	chr21	46326992	46326992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagcgaatggagtcaggatCccccggccctgtgaagttct	8	8	13	12	2	2	1	1	1	1	0	3	4	3	3	3	3	1	2	3	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46326992C>T	ENST00000397850.2	-	5	618	c.166G>A	c.(166-168)Gat>Aat	p.D56N	ITGB2_ENST00000397852.1_Missense_Mutation_p.D56N|ITGB2_ENST00000355153.4_Missense_Mutation_p.D56N|ITGB2_ENST00000397854.3_Missense_Mutation_p.D56N|ITGB2_ENST00000397857.1_Missense_Mutation_p.D56N|ITGB2_ENST00000302347.5_Missense_Mutation_p.D56N			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	56					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GAGTCAGGATCCCCCGGCCCT	0.657													20	43					0	0	0	0	T	46326992	C	T	46326992	3	4	364	1	0	0	0	0	1	0	0	0	7947	855	30	2	2195	2	ITGB2	21	46326992	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	248875	46326992	1802903	2107	71036											
ADARB1	104	broad.mit.edu	37	chr21	46596324	46596324	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgagtgggaagaatccCgtgatgatcttgaacgaact	11	8	11	11	3	1	4	0	3	1	1	2	7	2	5	3	1	2	0	3	1	4	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46596324C>T	ENST00000539173.1	+	4	1143	c.708C>T	c.(706-708)ccC>ccT	p.P236P	ADARB1_ENST00000389863.4_Silent_p.P236P|ADARB1_ENST00000360697.3_Silent_p.P236P|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000348831.4_Silent_p.P236P	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	236	DRBM 2.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GGAAGAATCCCGTGATGATCT	0.607													21	44					0	0	0	0	T	46596324	C	T	46596324	2	4	364	1	0	0	0	0	0	0	0	1	282	639	23	1		1	ADARB1	21	46596324	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	269332	46596324	1533571	2108	71037											
SLC19A1	6573	broad.mit.edu	37	chr21	46950872	46950872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgaagcccgcggcgaaGgacgtgatggcgcctgagag	9	5	16	11	6	1	2	1	2	0	1	1	6	1	3	2	3	1	0	2	3	2	1	rs56138890		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46950872G>A	ENST00000311124.4	-	4	1115	c.963C>T	c.(961-963)tcC>tcT	p.S321S	SLC19A1_ENST00000567670.1_Silent_p.S321S|SLC19A1_ENST00000485649.2_Silent_p.S281S|SLC19A1_ENST00000380010.4_Silent_p.S321S	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	321					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CCGCGGCGAAGGACGTGATGG	0.706													3	12					0	0	0	0	A	46950872	G	A	46950872	2	1	364	1	0	0	0	0	0	0	0	1	14516	987	35	4		4	SLC19A1	21	46950872	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	354548	46950872	1179023	2109	71038											
SLC19A1	6573	broad.mit.edu	37	chr21	46951419	46951419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccaggtagtagccggccGagttgaagacccaccagagg	11	4	13	13	2	0	3	0	1	0	2	0	4	0	3	6	3	1	3	6	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46951419G>A	ENST00000311124.4	-	3	985	c.833C>T	c.(832-834)tCg>tTg	p.S278L	SLC19A1_ENST00000567670.1_Missense_Mutation_p.S278L|SLC19A1_ENST00000485649.2_Missense_Mutation_p.S238L|SLC19A1_ENST00000380010.4_Missense_Mutation_p.S278L	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	278					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GTAGCCGGCCGAGTTGAAGAC	0.672													35	61					0	0	0	0	A	46951419	G	A	46951419	3	1	364	1	0	0	0	0	1	0	0	0	14516	1059	37	1	958	1	SLC19A1	21	46951419	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	547	46951419	1178476	2110	71039											
IL17RA	23765	broad.mit.edu	37	chr22	17588619	17588619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttcttttcctttccagggCctggaagtgaaaaatacagt	11	14	8	8	0	1	1	0	1	1	0	3	2	3	2	3	2	1	0	3	2	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:17588619C>T	ENST00000319363.6	+	12	1181	c.1048C>T	c.(1048-1050)Cct>Tct	p.P350S		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	350					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTTTCCAGGGCCTGGAAGTGA	0.463													5	41					0	0	0	0	T	17588619	C	T	17588619	3	4	364	1	0	0	0	0	1	0	0	0	7692	739	26	4	1094	4	IL17RA	22	17588619	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08		17588619	33715947	2111	71040											
CECR2	27443	broad.mit.edu	37	chr22	17976490	17976490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaactaccgctgggagctcGaagaagggaagcccaaccct	12	5	11	13	2	1	1	1	0	0	1	2	4	1	3	3	2	5	2	3	2	6	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:17976490G>A	ENST00000262608.8	+	2	154	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	CECR2_ENST00000342247.5_Missense_Mutation_p.E51K|CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000400573.4_Missense_Mutation_p.E71K	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	93					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTGGGAGCTCGAAGAAGGGAA	0.517													20	19					0	0	0	0	A	17976490	G	A	17976490	3	1	364	1	0	0	0	0	1	0	0	0	3235	1059	37	1	159	1	CECR2	22	17976490	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	387871	17976490	33328076	2112	71041											
MICAL3	57553	broad.mit.edu	37	chr22	18300221	18300221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacttccacagggacttggGtttggcggcggcttcttcta	5	12	14	10	2	2	0	0	0	2	0	3	2	3	2	1	6	0	2	1	6	1	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:18300221G>A	ENST00000441493.2	-	26	5558	c.5206C>T	c.(5206-5208)Ccc>Tcc	p.P1736S		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1736						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGGGACTTGGGTTTGGCGGCG	0.622													9	31					0	0	0	0	A	18300221	G	A	18300221	3	1	364	1	0	0	0	0	1	0	0	0	9640	1261	44	4	830	4	MICAL3	22	18300221	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	323731	18300221	33004345	2113	71042											
CLTCL1	8218	broad.mit.edu	37	chr22	19217372	19217372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcactgacctggggtgcatGaacaaggttcatctccaaca	11	9	10	11	0	3	2	2	2	1	0	4	2	3	2	2	3	3	2	2	3	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19217372G>A	ENST00000263200.10	-	11	1843	c.1771C>T	c.(1771-1773)Cat>Tat	p.H591Y	CLTCL1_ENST00000427926.1_Missense_Mutation_p.H591Y|CLTCL1_ENST00000353891.5_Missense_Mutation_p.H591Y	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	591	Distal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGGGGTGCATGAACAAGGTTC	0.512			T	?	ALCL								4	11					0	0	0	0	A	19217372	G	A	19217372	3	1	364	1	0	0	0	0	1	0	0	0	3597	1290	45	2	3239	2	CLTCL1	22	19217372	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	917151	19217372	32087194	2114	71043											
HIRA	7290	broad.mit.edu	37	chr22	19344534	19344534	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccacaggtggagaacaCtgacagcatccttttttcac	11	9	9	12	1	1	2	1	1	0	1	2	4	2	2	2	2	2	1	2	2	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19344534C>G	ENST00000263208.5	-	19	2531	c.2275G>C	c.(2275-2277)Gtg>Ctg	p.V759L	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000546308.1_Missense_Mutation_p.V715L|HIRA_ENST00000541063.1_Missense_Mutation_p.V715L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	759	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GTGGAGAACACTGACAGCATC	0.587													33	125					0	0	0	0	G	19344534	C	G	19344534	3	3	364	1	0	0	0	0	1	0	0	0	7170	565	20	4	806	4	HIRA	22	19344534	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	127162	19344534	31960032	2115	71044											
UFD1L	7353	broad.mit.edu	37	chr22	19444407	19444407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgctggacttgtctttcgGgttctttgtagcccagggga	5	14	13	9	1	2	0	0	0	2	0	3	2	2	2	1	4	2	3	1	4	1	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19444407G>A	ENST00000263202.9	-	8	728	c.599C>T	c.(598-600)cCc>cTc	p.P200L	UFD1L_ENST00000399523.1_Missense_Mutation_p.P200L|UFD1L_ENST00000360834.4_Missense_Mutation_p.P189L	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	200					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					Ttgtctttcgggttctttgta	0.468													7	11					0	0	0	0	A	19444407	G	A	19444407	3	1	364	1	0	0	0	0	1	0	0	0	17031	1232	43	4	344	4	UFD1L	22	19444407	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	99873	19444407	31860159	2116	71045											
SEPT5	5413	broad.mit.edu	37	chr22	19709395	19709395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgcaacatgctcatcCgcacgcatatgcacgacctc	10	7	8	16	4	1	0	1	0	0	0	3	1	2	0	2	0	5	6	2	0	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19709395C>T	ENST00000438754.2	+	9	1161	c.881C>T	c.(880-882)cCg>cTg	p.P294L	SEPT5_ENST00000383045.3_Missense_Mutation_p.R298C|SEPT5_ENST00000455784.2_Missense_Mutation_p.R289C|SEPT5_ENST00000406395.1_Missense_Mutation_p.P285L	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	215					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CATGCTCATCCGCACGCATAT	0.652													8	44					0	0	0	0	T	19709395	C	T	19709395	3	4	364	1	0	0	0	0	1	0	0	0	14154	652	23	1	903	1	SEPT5	22	19709395	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	264988	19709395	31595171	2117	71046											
GNB1L	54584	broad.mit.edu	37	chr22	19789706	19789706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgatccatcctcatagcCggccagaaggagtgggcggg	9	5	14	13	3	1	1	1	0	0	1	3	3	3	2	5	4	1	0	5	4	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19789706C>A	ENST00000329517.6	-	7	786	c.550G>T	c.(550-552)Ggc>Tgc	p.G184C	GNB1L_ENST00000405009.1_Missense_Mutation_p.G184C|GNB1L_ENST00000403325.1_Missense_Mutation_p.G184C|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	184					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TCCTCATAGCCGGCCAGAAGG	0.622													7	41					0.27861	0.279333	1	0	A	19789706	C	A	19789706	3	1	364	1	0	0	0	0	1	0	0	0	6567	652	23	3	441	3	GNB1L	22	19789706	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	80311	19789706	31514860	2118	71047											
TXNRD2	10587	broad.mit.edu	37	chr22	19865925	19865925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcatctcgtccagccacCgtgaactccagtggtttata	9	11	9	12	2	1	1	0	1	1	0	4	2	3	1	4	1	3	2	4	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19865925C>T	ENST00000400519.1	-	15	1307	c.1308G>A	c.(1306-1308)acG>acA	p.T436T	TXNRD2_ENST00000400518.1_Silent_p.T407T|TXNRD2_ENST00000400525.1_Silent_p.T414T|TXNRD2_ENST00000400521.1_Silent_p.T437T|TXNRD2_ENST00000542719.1_Silent_p.T407T|TXNRD2_ENST00000535882.1_Silent_p.T436T			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	437					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	p.T437T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GTCCAGCCACCGTGAACTCCA	0.567													25	140					0	0	0	0	T	19865925	C	T	19865925	2	4	364	1	0	0	0	0	0	0	0	1	16904	639	23	1		1	TXNRD2	22	19865925	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	76219	19865925	31438641	2119	71048											
SLC7A4	6545	broad.mit.edu	37	chr22	21385614	21385614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgggtagtggcccaggaggGgcacctgccaagaacccacg	9	3	15	14	2	0	1	0	0	0	1	0	2	0	2	5	5	2	2	5	5	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:21385614G>A	ENST00000382932.2	-	2	555	c.488C>T	c.(487-489)cCc>cTc	p.P163L	SLC7A4_ENST00000403586.1_Missense_Mutation_p.P163L	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	163				THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263).	cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCCCAGGAGGGGCACCTGCCA	0.642													6	18					0	0	0	0	A	21385614	G	A	21385614	3	1	364	1	0	0	0	0	1	0	0	0	14787	1232	43	4	1435	4	SLC7A4	22	21385614	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1519689	21385614	29918952	2120	71049											
HIC2	23119	broad.mit.edu	37	chr22	21799757	21799757	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcccacgccccccaggagctCccccaagccaaaggctcaga	10	2	9	20	1	1	1	1	0	0	1	2	2	2	2	7	2	2	2	7	2	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:21799757C>T	ENST00000443632.2	+	2	945	c.573C>T	c.(571-573)ctC>ctT	p.L191L	HIC2_ENST00000407598.2_Silent_p.L191L|HIC2_ENST00000407464.2_Silent_p.L191L			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	191					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CCCAGGAGCTCCCCCAAGCCA	0.677													5	17					0	0	0	0	T	21799757	C	T	21799757	2	4	364	1	0	0	0	0	0	0	0	1	7152	842	30	2		2	HIC2	22	21799757	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	414143	21799757	29504809	2121	71050											
PPM1F	9647	broad.mit.edu	37	chr22	22277594	22277594	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctcttgggggtccctgagGaagaccaccatgaccgtgat	9	8	13	11	1	1	4	0	3	1	1	2	5	2	5	4	3	1	1	4	3	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:22277594G>A	ENST00000407142.1	-	6	1792	c.732C>T	c.(730-732)ttC>ttT	p.F244F	PPM1F_ENST00000263212.5_Silent_p.F412F|PPM1F_ENST00000538191.1_Silent_p.F308F			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	412					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GGTCCCTGAGGAAGACCACCA	0.687													39	60					0	0	0	0	A	22277594	G	A	22277594	2	1	364	1	0	0	0	0	0	0	0	1	12415	1165	41	2		2	PPM1F	22	22277594	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	477837	22277594	29026972	2122	71051											
GNAZ	2781	broad.mit.edu	37	chr22	23438266	23438266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagctgctgggtgtcatGcgacggctctgggccgaccc	4	7	15	15	4	2	0	1	0	1	0	2	3	2	0	3	3	3	3	3	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:23438266G>A	ENST00000248996.4	+	2	1050	c.384G>A	c.(382-384)atG>atA	p.M128I	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	128						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TGGGTGTCATGCGACGGCTCT	0.672													12	48					0	0	0	0	A	23438266	G	A	23438266	3	1	364	1	0	0	0	0	1	0	0	0	6565	1319	46	4	386	4	GNAZ	22	23438266	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1160672	23438266	27866300	2123	71052											
RGL4	266747	broad.mit.edu	37	chr22	24038805	24038805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgctgacacctggcaggcggGgagctttaaggtggccaccc	7	6	15	13	2	0	1	0	1	0	0	0	2	0	2	3	6	1	3	3	6	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:24038805G>A	ENST00000290691.5	+	7	2261	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E	RGL4_ENST00000401461.1_Missense_Mutation_p.G228E	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	364	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGGCAGGCGGGGAGCTTTAAG	0.657													3	31					0	0	0	0	A	24038805	G	A	24038805	3	1	364	1	0	0	0	0	1	0	0	0	13361	1232	43	4	1117	4	RGL4	22	24038805	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	600539	24038805	27265761	2124	71053											
CABIN1	23523	broad.mit.edu	37	chr22	24573698	24573698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctccgccgccaccaagttCccccctgagatcaccgtcac	7	6	6	22	3	2	1	2	1	0	1	4	2	4	1	9	0	0	1	9	0	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:24573698C>T	ENST00000398319.2	+	36	6817	c.6432C>T	c.(6430-6432)ttC>ttT	p.F2144F	CABIN1_ENST00000263119.5_Silent_p.F2144F|CABIN1_ENST00000337989.7_Silent_p.F514F|CABIN1_ENST00000405822.2_Silent_p.F2065F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2144	Required for interaction with calcineurin (By similarity).				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCACCAAGTTCCCCCCTGAGA	0.657													14	23					0	0	0	0	T	24573698	C	T	24573698	2	4	364	1	0	0	0	0	0	0	0	1	2553	854	30	2		2	CABIN1	22	24573698	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	534893	24573698	26730868	2125	71054											
ASPHD2	57168	broad.mit.edu	37	chr22	26830270	26830270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccagcggggagtggttcaCcttttacttggtcaatcagg	7	11	12	11	1	3	0	3	0	0	0	3	1	3	1	3	5	2	1	3	5	2	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:26830270C>T	ENST00000215906.5	+	2	1127	c.689C>T	c.(688-690)aCc>aTc	p.T230I		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	230					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GAGTGGTTCACCTTTTACTTG	0.537													13	68					0	0	0	0	T	26830270	C	T	26830270	3	4	364	1	0	0	0	0	1	0	0	0	1059	507	18	4	691	4	ASPHD2	22	26830270	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2256572	26830270	24474296	2126	71055											
CHEK2	11200	broad.mit.edu	37	chr22	29083922	29083922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacagctgggcgctttgtgGtctcggcaccctcggcttcc	4	10	12	15	3	1	0	0	0	1	0	4	0	2	0	2	4	1	4	2	4	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:29083922G>A	ENST00000544772.1	-	16	2368	c.932C>T	c.(931-933)aCc>aTc	p.T311I	CHEK2_ENST00000348295.3_Missense_Mutation_p.T503I|CHEK2_ENST00000382578.1_Missense_Mutation_p.T441I|CHEK2_ENST00000403642.1_Missense_Mutation_p.T441I|CHEK2_ENST00000328354.6_Missense_Mutation_p.T532I|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Missense_Mutation_p.T152I|CHEK2_ENST00000405598.1_Missense_Mutation_p.T532I|CHEK2_ENST00000402731.1_Missense_Mutation_p.T503I|CHEK2_ENST00000404276.1_Missense_Mutation_p.T532I|CHEK2_ENST00000382580.2_Missense_Mutation_p.T575I	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	532	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GCGCTTTGTGGTCTCGGCACC	0.468			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					9	33					0	0	0	0	A	29083922	G	A	29083922	3	1	364	1	0	0	0	0	1	0	0	0	3364	1261	44	4	40	4	CHEK2	22	29083922	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2253652	29083922	22220644	2127	71056											
NEFH	4744	broad.mit.edu	37	chr22	29885337	29885337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggccaagtccccagagaagGaggaagcaaaatctccagct	15	4	11	11	0	1	1	0	0	1	1	3	4	2	3	4	3	2	2	4	3	5	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:29885337G>A	ENST00000310624.6	+	4	1741	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	570	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCAGAGAAGGAGGAAGCAAA	0.567													8	66					0	0	0	0	A	29885337	G	A	29885337	3	1	364	1	0	0	0	0	1	0	0	0	10384	1175	41	2	1722	2	NEFH	22	29885337	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	801415	29885337	21419229	2128	71057											
THOC5	8563	broad.mit.edu	37	chr22	29927884	29927884	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggaggcggcaggtgtctGgctgtctcatactgcttgtg	5	11	17	8	1	2	0	1	0	2	0	3	1	2	1	0	6	2	3	0	6	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:29927884G>A	ENST00000490103.1	-	8	905	c.783C>T	c.(781-783)gcC>gcT	p.A261A	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Silent_p.A261A|THOC5_ENST00000397872.1_Silent_p.A261A|THOC5_ENST00000397873.2_Silent_p.A261A	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	261					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCAGGTGTCTGGCTGTCTCAT	0.557													13	29					0	0	0	0	A	29927884	G	A	29927884	2	1	364	1	0	0	0	0	0	0	0	1	15962	1335	47	4		4	THOC5	22	29927884	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	42547	29927884	21376682	2129	71058											
OSM	5008	broad.mit.edu	37	chr22	30660007	30660007	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctccccccacttgctgaaGacccgccccactgagtgcat	7	8	7	19	1	1	3	0	2	1	1	2	3	1	3	6	0	2	2	6	0	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:30660007G>A	ENST00000215781.2	-	3	664	c.624C>T	c.(622-624)gtC>gtT	p.V208V	OSM_ENST00000403389.1_Silent_p.V187V	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	208					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			ACTTGCTGAAGACCCGCCCCA	0.667													12	50					0	0	0	0	A	30660007	G	A	30660007	2	1	364	1	0	0	0	0	0	0	0	1	11362	929	33	2		2	OSM	22	30660007	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	732123	30660007	20644559	2130	71059											
SEC14L2	23541	broad.mit.edu	37	chr22	30818340	30818340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcactgtggaggtcctgcttCcagacaaagcctcagaagag	11	8	11	11	0	2	3	2	0	0	3	4	4	4	4	3	2	2	1	3	2	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:30818340C>T	ENST00000312932.9	+	12	1416	c.1156C>T	c.(1156-1158)Cca>Tca	p.P386S	RP4-539M6.19_ENST00000439838.1_Intron|SEC14L2_ENST00000402592.3_Missense_Mutation_p.P303S|SEC14L2_ENST00000403484.1_Missense_Mutation_p.P312S	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	386					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GGTCCTGCTTCCAGACAAAGC	0.527													19	65					0	0	0	0	T	30818340	C	T	30818340	3	4	364	1	0	0	0	0	1	0	0	0	14069	855	30	2	1300	2	SEC14L2	22	30818340	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	158333	30818340	20486226	2131	71060											
MORC2	22880	broad.mit.edu	37	chr22	31328351	31328351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaggccagactcaccagagGaaaagatattagctcatctg	14	8	9	10	0	4	3	3	0	1	3	4	4	4	4	2	2	1	1	2	2	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:31328351G>A	ENST00000215862.4	-	25	4013	c.2650C>T	c.(2650-2652)Cct>Tct	p.P884S	MORC2_ENST00000397641.2_Missense_Mutation_p.P946S|MORC2-AS1_ENST00000441558.1_RNA	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	946							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTCACCAGAGGAAAAGATATT	0.463													22	70					0	0	0	0	A	31328351	G	A	31328351	3	1	364	1	0	0	0	0	1	0	0	0	9772	1174	41	2	274	2	MORC2	22	31328351	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	510011	31328351	19976215	2132	71061											
INPP5J	27124	broad.mit.edu	37	chr22	31522645	31522645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagcgactcaaggacgccCtcttcacggaccagtggagt	11	6	11	13	3	3	0	2	0	1	0	3	4	3	3	2	3	1	0	2	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:31522645C>T	ENST00000331075.5	+	4	1481	c.1432C>T	c.(1432-1434)Ctc>Ttc	p.L478F	INPP5J_ENST00000400294.2_Missense_Mutation_p.L111F|INPP5J_ENST00000405300.1_Missense_Mutation_p.L111F|INPP5J_ENST00000404390.3_Missense_Mutation_p.L110F|INPP5J_ENST00000412277.2_Missense_Mutation_p.L411F			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	478	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CAAGGACGCCCTCTTCACGGA	0.617													39	150					0	0	0	0	T	31522645	C	T	31522645	3	4	364	1	0	0	0	0	1	0	0	0	7812	681	24	4	342	4	INPP5J	22	31522645	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	194294	31522645	19781921	2133	71062											
SFI1	9814	broad.mit.edu	37	chr22	31979928	31979928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaggaaagagagctgctccCcttactgcatgctgcctggg	10	8	12	11	0	0	1	0	0	0	1	1	3	1	2	3	2	6	4	3	2	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:31979928C>T	ENST00000432498.1	+	12	1616	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L	SFI1_ENST00000400288.2_Missense_Mutation_p.P439L|SFI1_ENST00000400289.1_Missense_Mutation_p.P357L|SFI1_ENST00000540643.1_Missense_Mutation_p.P384L|SFI1_ENST00000414585.1_Missense_Mutation_p.P286L|SFI1_ENST00000443326.1_Missense_Mutation_p.P357L|SFI1_ENST00000443011.1_Missense_Mutation_p.P286L	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	439					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						GAGCTGCTCCCCTTACTGCAT	0.512													63	113					0	0	0	0	T	31979928	C	T	31979928	3	4	364	1	0	0	0	0	1	0	0	0	14243	623	22	4	1362	4	SFI1	22	31979928	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	457283	31979928	19324638	2134	71063											
SLC5A1	6523	broad.mit.edu	37	chr22	32480501	32480501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccaaccatagtgtctgatgGcaacaccacctttcaggaaa	13	9	7	12	0	2	1	1	1	1	0	3	2	3	2	4	2	2	1	4	2	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:32480501G>A	ENST00000266088.4	+	8	990	c.740G>A	c.(739-741)gGc>gAc	p.G247D	SLC5A1_ENST00000543737.1_Missense_Mutation_p.G120D	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	247					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GTGTCTGATGGCAACACCACC	0.502													16	34					0	0	0	0	A	32480501	G	A	32480501	3	1	364	1	0	0	0	0	1	0	0	0	14749	1203	42	4	770	4	SLC5A1	22	32480501	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	500573	32480501	18824065	2135	71064											
ISX	91464	broad.mit.edu	37	chr22	35478537	35478537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaagagcaagcggagggttCgtaccaccttcaccactgag	11	6	13	11	2	1	2	1	1	0	1	2	4	1	4	3	3	3	3	3	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:35478537C>T	ENST00000308700.6	+	2	1208	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	ISX_ENST00000404699.2_Missense_Mutation_p.R86C	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R86C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCGGAGGGTTCGTACCACCTT	0.557													31	44					0	0	0	0	T	35478537	C	T	35478537	3	4	364	1	0	0	0	0	1	0	0	0	7918	884	31	1	262	1	ISX	22	35478537	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2998036	35478537	15826029	2136	71065											
TOM1	10043	broad.mit.edu	37	chr22	35723363	35723363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacccaggccgagcccgcaGacctggagctgctgcaggtg	7	4	14	16	2	0	1	0	0	0	1	0	3	0	2	5	3	4	4	5	3	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:35723363G>A	ENST00000382034.5	+	8	889	c.547G>A	c.(547-549)Gac>Aac	p.D183N	TOM1_ENST00000411850.1_Missense_Mutation_p.D250N|TOM1_ENST00000449058.2_Missense_Mutation_p.D250N|TOM1_ENST00000436462.2_Missense_Mutation_p.D212N|TOM1_ENST00000447733.1_Missense_Mutation_p.D217N|TOM1_ENST00000425375.1_Missense_Mutation_p.D205N			O60784	TOM1_HUMAN	target of myb1 (chicken)	250					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CGAGCCCGCAGACCTGGAGCT	0.627													4	31					0	0	0	0	A	35723363	G	A	35723363	3	1	364	1	0	0	0	0	1	0	0	0	16445	942	33	2	774	2	TOM1	22	35723363	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	244826	35723363	15581203	2137	71066											
APOL1	8542	broad.mit.edu	37	chr22	36661678	36661678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagaacatatccaactttCtttccttagctggcaatact	11	14	6	10	0	1	1	0	1	1	1	3	2	3	1	2	1	4	2	2	1	6	5	rs41311348		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:36661678C>T	ENST00000319136.4	+	7	1111	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	APOL1_ENST00000397279.4_Missense_Mutation_p.L266F|APOL1_ENST00000397278.3_Missense_Mutation_p.L266F|APOL1_ENST00000422706.1_Missense_Mutation_p.L266F|APOL1_ENST00000347595.7_Missense_Mutation_p.L145F|APOL1_ENST00000426053.1_Missense_Mutation_p.L248F	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	266					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						ATCCAACTTTCTTTCCTTAGC	0.507													15	49					0	0	0	0	T	36661678	C	T	36661678	3	4	364	1	0	0	0	0	1	0	0	0	807	913	32	2	866	2	APOL1	22	36661678	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	938315	36661678	14642888	2138	71067											
CSF2RB	1439	broad.mit.edu	37	chr22	37326786	37326786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcaccactgccagattcCcgtgcccgaccccgcgaccc	7	4	9	21	4	0	1	0	0	0	1	1	3	1	1	7	1	2	1	7	1	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37326786C>T	ENST00000262825.5	+	8	1161	c.944C>T	c.(943-945)cCc>cTc	p.P315L	CSF2RB_ENST00000406230.1_Missense_Mutation_p.P315L|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P309L|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P256L	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	309					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGCCAGATTCCCGTGCCCGAC	0.612													13	28					0	0	0	0	T	37326786	C	T	37326786	3	4	364	1	0	0	0	0	1	0	0	0	3967	623	22	4	952	4	CSF2RB	22	37326786	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	665108	37326786	13977780	2139	71068											
TMPRSS6	164656	broad.mit.edu	37	chr22	37494578	37494578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacctggctgaccatcacctCcgccttgtaccctgcccagg	6	8	8	19	1	1	1	1	1	0	0	2	1	2	1	7	2	2	2	7	2	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37494578C>T	ENST00000381792.2	-	3	354	c.214G>A	c.(214-216)Gag>Aag	p.E72K	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E81K|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E81K|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E72K|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E72K			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	81					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACCATCACCTCCGCCTTGTAC	0.587													30	124					0	0	0	0	T	37494578	C	T	37494578	3	4	364	1	0	0	0	0	1	0	0	0	16345	864	30	2	2258	2	TMPRSS6	22	37494578	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	167792	37494578	13809988	2140	71069											
IL2RB	3560	broad.mit.edu	37	chr22	37524552	37524552	+	Missense_Mutation	SNP	C	C	T																															ggtgcagtaggcgtcgtcctCccctgacagaggctgcaggg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37524552C>T	ENST00000216223.5	-	10	1438	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	414					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCGTCGTCCTCCCCTGACAGA	0.657													20	24					0	0	0	0	T	37524552	C	T	37524552	3	4	364	1	0	0	0	0	1	0	0	0	7740	864	30	2	419	2	IL2RB	22	37524552	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	29974	37524552	13780014	2141	71070	976	2									
IL2RB	3560	broad.mit.edu	37	chr22	37524553	37524553	+	Silent	SNP	C	C	T																															gtgcagtaggcgtcgtcctcCcctgacagaggctgcagggg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37524553C>T	ENST00000216223.5	-	10	1437	c.1239G>A	c.(1237-1239)ggG>ggA	p.G413G		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	413					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CGTCGTCCTCCCCTGACAGAG	0.652													19	25					0	0	0	0	T	37524553	C	T	37524553	2	4	364	1	0	0	0	0	0	0	0	1	7740	610	22	4		4	IL2RB	22	37524553	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	37524553	13780013	2142	71071	976	2									
ELFN2	114794	broad.mit.edu	37	chr22	37770430	37770430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgccaagtctccggggacgGggtcccgcgtggtgaaggtc	5	6	18	12	5	1	1	0	1	1	0	4	2	2	2	3	6	0	0	3	6	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37770430G>A	ENST00000402918.1	-	3	1930	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.P382L	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	382						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCCGGGGACGGGGTCCCGCGT	0.637													11	35					0	0	0	0	A	37770430	G	A	37770430	3	1	364	1	0	0	0	0	1	0	0	0	5096	1232	43	4	1321	4	ELFN2	22	37770430	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	245877	37770430	13534136	2143	71072											
CARD10	29775	broad.mit.edu	37	chr22	37892485	37892485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccatcagggaggggagtgtgGacccctgattccagagcaag	10	6	15	10	0	1	2	1	1	0	1	2	5	2	5	4	4	1	1	4	4	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37892485G>A	ENST00000403299.1	-	14	2246	c.2030C>T	c.(2029-2031)tCc>tTc	p.S677F	CARD10_ENST00000406271.3_Missense_Mutation_p.S391F|CARD10_ENST00000251973.5_Missense_Mutation_p.S677F			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	677					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GGGGAGTGTGGACCCCTGATT	0.637													11	38					0	0	0	0	A	37892485	G	A	37892485	3	1	364	1	0	0	0	0	1	0	0	0	2669	1174	41	2	1100	2	CARD10	22	37892485	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	122055	37892485	13412081	2144	71073											
TRIOBP	11078	broad.mit.edu	37	chr22	38121032	38121032	+	Silent	SNP	C	C	T																															acttgtattcaacagaacatCcccagatcatcttctaccca																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121032C>T	ENST00000406386.3	+	7	2724	c.2469C>T	c.(2467-2469)atC>atT	p.I823I	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	823					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					AACAGAACATCCCCAGATCAT	0.522													18	71					0	0	0	0	T	38121032	C	T	38121032	2	4	364	1	0	0	0	0	0	0	0	1	16648	845	30	2		2	TRIOBP	22	38121032	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	228547	38121032	13183534	2145	71074	977	2									
TRIOBP	11078	broad.mit.edu	37	chr22	38121033	38121033	+	Missense_Mutation	SNP	C	C	T																															cttgtattcaacagaacatcCccagatcatcttctacccaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121033C>T	ENST00000406386.3	+	7	2725	c.2470C>T	c.(2470-2472)Ccc>Tcc	p.P824S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	824					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					ACAGAACATCCCCAGATCATC	0.522													18	72					0	0	0	0	T	38121033	C	T	38121033	3	4	364	1	0	0	0	0	1	0	0	0	16648	623	22	4	2488	4	TRIOBP	22	38121033	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1	38121033	13183533	2146	71075	977	2									
TRIOBP	11078	broad.mit.edu	37	chr22	38121451	38121451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagcatgacccaccccagtCctcctttggccccacccagt	7	7	6	21	0	0	1	0	1	0	0	2	1	2	1	9	1	1	1	9	1	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121451C>T	ENST00000406386.3	+	7	3143	c.2888C>T	c.(2887-2889)tCc>tTc	p.S963F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	963					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					CCACCCCAGTCCTCCTTTGGC	0.637													53	86					0	0	0	0	T	38121451	C	T	38121451	3	4	364	1	0	0	0	0	1	0	0	0	16648	855	30	2	2906	2	TRIOBP	22	38121451	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	418	38121451	13183115	2147	71076											
TRIOBP	11078	broad.mit.edu	37	chr22	38121538	38121538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagagcacctcccgaacttCctcacctgtgtaccccgctg	7	8	7	19	2	1	1	1	0	0	1	3	2	3	1	7	0	3	3	7	0	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121538C>T	ENST00000406386.3	+	7	3230	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	992					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					TCCCGAACTTCCTCACCTGTG	0.647													23	119					0	0	0	0	T	38121538	C	T	38121538	3	4	364	1	0	0	0	0	1	0	0	0	16648	855	30	2	2993	2	TRIOBP	22	38121538	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	87	38121538	13183028	2148	71077											
TRIOBP	11078	broad.mit.edu	37	chr22	38121778	38121778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacaccgagatgccccccGggcgtcctcgcccccccgcc	4	4	11	22	5	0	1	0	0	0	1	2	3	1	2	9	2	1	0	9	2	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121778G>A	ENST00000406386.3	+	7	3470	c.3215G>A	c.(3214-3216)cGg>cAg	p.R1072Q	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1072					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					GATGCCCCCCGGGCGTCCTCG	0.652													10	44					0	0	0	0	A	38121778	G	A	38121778	3	1	364	1	0	0	0	0	1	0	0	0	16648	1116	39	1	3233	1	TRIOBP	22	38121778	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	240	38121778	13182788	2149	71078											
TRIOBP	11078	broad.mit.edu	37	chr22	38130789	38130789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcatgggggggcacttccagGgagtacaaggagagctgggg	9	5	20	7	0	0	1	0	0	0	1	1	3	1	2	1	7	2	4	1	7	2	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38130789G>A	ENST00000406386.3	+	9	4701	c.4446G>A	c.(4444-4446)agG>agA	p.R1482R	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1482					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					GCACTTCCAGGGAGTACAAGG	0.682													4	18					0	0	0	0	A	38130789	G	A	38130789	2	1	364	1	0	0	0	0	0	0	0	1	16648	1223	43	4		4	TRIOBP	22	38130789	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	9011	38130789	13173777	2150	71079											
MICALL1	85377	broad.mit.edu	37	chr22	38318042	38318042	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggcctgaggagggcacCtttgtgtgtgcagaacactg	9	9	15	8	0	0	2	0	1	0	1	0	3	0	3	2	3	2	2	2	3	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38318042C>A	ENST00000215957.6	+	6	759	c.633C>A	c.(631-633)acC>acA	p.T211T		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	211	LIM zinc-binding.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGGAGGGCACCTTTGTGTGTG	0.657													32	40					4.3181e-19	4.48373e-19	1	0	A	38318042	C	A	38318042	2	1	364	1	0	0	0	0	0	0	0	1	9642	668	24	4		4	MICALL1	22	38318042	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	187253	38318042	12986524	2151	71080											
CBX7	23492	broad.mit.edu	37	chr22	39529949	39529949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctgcctgggcctcgcGgaaggtgacggtgatggagt	6	8	17	10	3	1	2	1	2	0	0	2	4	1	4	2	5	2	1	2	5	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:39529949G>A	ENST00000216133.5	-	6	908	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Missense_Mutation_p.R142C	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	235	Required for cellular lifespan extension.				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					TGGGCCTCGCGGAAGGTGACG	0.597													27	73					0	0	0	0	A	39529949	G	A	39529949	3	1	364	1	0	0	0	0	1	0	0	0	2748	1116	39	1	56	1	CBX7	22	39529949	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1211907	39529949	11774617	2152	71081											
CACNA1I	8911	broad.mit.edu	37	chr22	40057260	40057260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catgctggtggccctgggctCccgaaagagcagtgtcatgt	7	9	14	11	1	1	1	1	0	0	1	2	2	2	1	2	3	2	3	2	3	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:40057260C>T	ENST00000336649.4	+	19	2864	c.2864C>T	c.(2863-2865)tCc>tTc	p.S955F	CACNA1I_ENST00000404898.1_Missense_Mutation_p.S914F|CACNA1I_ENST00000402142.3_Missense_Mutation_p.S949F|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S949F|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S914F|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S914F			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	949					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCCCTGGGCTCCCGAAAGAGC	0.667													18	18					0	0	0	0	T	40057260	C	T	40057260	3	4	364	1	0	0	0	0	1	0	0	0	2571	855	30	2	2908	2	CACNA1I	22	40057260	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	527311	40057260	11247306	2153	71082											
ADSL	158	broad.mit.edu	37	chr22	40754970	40754970	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtccgagatgacctgcgcttCcggggagtaaagggtaccac	9	7	14	11	3	0	2	0	1	0	1	2	4	2	3	4	3	2	3	4	3	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:40754970C>T	ENST00000216194.7	+	5	641	c.585C>T	c.(583-585)ttC>ttT	p.F195F	ADSL_ENST00000454266.2_Silent_p.F209F|ADSL_ENST00000342312.6_Silent_p.F195F	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	195					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ACCTGCGCTTCCGGGGAGTAA	0.517													20	58					0	0	0	0	T	40754970	C	T	40754970	2	4	364	1	0	0	0	0	0	0	0	1	346	854	30	2		2	ADSL	22	40754970	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	697710	40754970	10549596	2154	71083											
SGSM3	27352	broad.mit.edu	37	chr22	40804825	40804825	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagatggcaaagtcctgacCccggaggagctgctctaccg	10	6	13	12	2	1	2	0	1	1	1	2	5	2	4	4	3	3	3	4	3	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:40804825C>T	ENST00000248929.9	+	18	2070	c.1881C>T	c.(1879-1881)acC>acT	p.T627T	SGSM3_ENST00000454798.2_Silent_p.T560T	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	627	RUN.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						AAGTCCTGACCCCGGAGGAGC	0.657													10	56					0	0	0	0	T	40804825	C	T	40804825	2	4	364	1	0	0	0	0	0	0	0	1	14311	610	22	4		4	SGSM3	22	40804825	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	49855	40804825	10499741	2155	71084											
EP300	2033	broad.mit.edu	37	chr22	41547937	41547937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cattgctgagaagcagccttCccaggaagtgaagatggagg	12	7	14	8	0	0	3	0	2	0	2	1	6	1	5	2	3	3	2	2	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:41547937C>T	ENST00000263253.7	+	15	4137	c.2918C>T	c.(2917-2919)tCc>tTc	p.S973F		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	973					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AAGCAGCCTTCCCAGGAAGTG	0.483			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				27	121					0	0	0	0	T	41547937	C	T	41547937	3	4	364	1	0	0	0	0	1	0	0	0	5186	855	30	2	2976	2	EP300	22	41547937	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	743112	41547937	9756629	2156	71085											
TOB2	10766	broad.mit.edu	37	chr22	41833301	41833301	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgccggggcagcttgttgtAcaagtaggagatgatgaagt	10	9	16	6	2	0	3	0	2	0	1	0	4	0	3	1	3	2	5	1	3	4	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:41833301A>T	ENST00000327492.3	-	2	755	c.49T>A	c.(49-51)Tac>Aac	p.Y17N		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	17					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						AGCTTGTTGTACAAGTAGGAG	0.537													16	78					0	0	0	0	T	41833301	A	T	41833301	3	4	364	1	0	0	0	0	1	0	0	0	16442	391	14	5	989	5	TOB2	22	41833301	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	285364	41833301	9471265	2157	71086											
XRCC6	2547	broad.mit.edu	37	chr22	42046861	42046861	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccattacctgaggccctcCctgttcgtgtacccagagga	8	9	9	15	1	0	2	0	1	0	1	2	3	1	3	5	2	2	2	5	2	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:42046861C>T	ENST00000359308.4	+	7	1750	c.1095C>T	c.(1093-1095)tcC>tcT	p.S365S	XRCC6_ENST00000360079.3_Silent_p.S365S|XRCC6_ENST00000428575.2_Silent_p.S232S|XRCC6_ENST00000402580.3_Silent_p.S324S|XRCC6_ENST00000405878.1_Silent_p.S365S|XRCC6_ENST00000405506.1_Silent_p.S315S			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	365	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TGAGGCCCTCCCTGTTCGTGT	0.498								Non-homologous end-joining					6	43					0	0	0	0	T	42046861	C	T	42046861	2	4	364	1	0	0	0	0	0	0	0	1	17553	610	22	4		4	XRCC6	22	42046861	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	213560	42046861	9257705	2158	71087											
PACSIN2	11252	broad.mit.edu	37	chr22	43275168	43275168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggttcgattcaggtctgcgGaccactcctaggcaacaggt	8	9	13	11	2	2	0	1	0	1	0	4	2	3	1	2	5	2	2	2	5	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:43275168G>A	ENST00000263246.3	-	8	1115	c.914C>T	c.(913-915)tCc>tTc	p.S305F	PACSIN2_ENST00000407585.1_Missense_Mutation_p.S305F|PACSIN2_ENST00000402229.1_Missense_Mutation_p.S305F|PACSIN2_ENST00000403744.3_Missense_Mutation_p.S305F|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000337959.4_Missense_Mutation_p.S305F	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	305					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CAGGTCTGCGGACCACTCCTA	0.597													13	34					0	0	0	0	A	43275168	G	A	43275168	3	1	364	1	0	0	0	0	1	0	0	0	11446	1174	41	2	562	2	PACSIN2	22	43275168	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1228307	43275168	8029398	2159	71088											
SAMM50	25813	broad.mit.edu	37	chr22	44368775	44368775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggcctcaagcttcctaatCttcttggtcgtgcagaaaag	9	13	9	10	1	3	1	1	0	2	1	5	1	4	1	2	2	2	2	2	2	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:44368775C>T	ENST00000350028.4	+	6	611	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_Intron	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	152					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GCTTCCTAATCTTCTTGGTCG	0.428													39	120					0	0	0	0	T	44368775	C	T	44368775	3	4	364	1	0	0	0	0	1	0	0	0	13914	913	32	2	476	2	SAMM50	22	44368775	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1093607	44368775	6935791	2160	71089											
PARVG	64098	broad.mit.edu	37	chr22	44585099	44585099	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgaaccggagtctgcAgctggaggagtggcaggcca	8	5	18	10	2	1	1	0	1	1	0	1	4	1	4	3	6	3	3	3	6	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:44585099A>C	ENST00000422871.1	+	6	777	c.353A>C	c.(352-354)cAg>cCg	p.Q118P	PARVG_ENST00000444313.2_Missense_Mutation_p.Q118P|PARVG_ENST00000415224.1_Missense_Mutation_p.Q118P	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	118	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CGGAGTCTGCAGCTGGAGGAG	0.647													12	26					0	0	0	0	C	44585099	A	C	44585099	3	2	364	1	0	0	0	0	1	0	0	0	11541	188	7	5	367	5	PARVG	22	44585099	Missense_Mutation	SNP	A	TCGA-D6-6516-01A-11D-1870-08	216324	44585099	6719467	2161	71090											
PHF21B	112885	broad.mit.edu	37	chr22	45316339	45316339	+	Missense_Mutation	SNP	G	G	A																															aggagctgacctgaggacccGtgacaggcactgcagtgatc																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:45316339G>A	ENST00000313237.5	-	3	302	c.152C>T	c.(151-153)aCg>aTg	p.T51M	PHF21B_ENST00000404079.2_Missense_Mutation_p.T39M|PHF21B_ENST00000396103.3_Missense_Mutation_p.T51M|PHF21B_ENST00000447824.3_Missense_Mutation_p.T39M|PHF21B_ENST00000403565.1_De_novo_Start_InFrame	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	51							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTGAGGACCCGTGACAGGCAC	0.632													4	11					0	0	0	0	A	45316339	G	A	45316339	3	1	364	1	0	0	0	0	1	0	0	0	11906	1145	40	1	1487	1	PHF21B	22	45316339	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	731240	45316339	5988227	2162	71091	978	2									
PHF21B	112885	broad.mit.edu	37	chr22	45316340	45316340	+	Missense_Mutation	SNP	T	T	A																															ggagctgacctgaggacccgTgacaggcactgcagtgatcg																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:45316340T>A	ENST00000313237.5	-	3	301	c.151A>T	c.(151-153)Acg>Tcg	p.T51S	PHF21B_ENST00000404079.2_Missense_Mutation_p.T39S|PHF21B_ENST00000396103.3_Missense_Mutation_p.T51S|PHF21B_ENST00000447824.3_Missense_Mutation_p.T39S|PHF21B_ENST00000403565.1_5'UTR	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	51							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TGAGGACCCGTGACAGGCACT	0.637													5	11					0	0	0	0	A	45316340	T	A	45316340	3	1	364	1	0	0	0	0	1	0	0	0	11906	1696	59	5	1488	5	PHF21B	22	45316340	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1	45316340	5988226	2163	71092	978	2									
SMC1B	27127	broad.mit.edu	37	chr22	45765889	45765889	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgttctcaaattcacgaaTattttccacgccaatttctt	10	18	3	10	2	3	0	2	0	2	0	5	1	4	0	2	0	0	1	2	0	4	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:45765889T>C	ENST00000357450.4	-	15	2364	c.2365A>G	c.(2365-2367)Att>Gtt	p.I789V	SMC1B_ENST00000404354.3_Missense_Mutation_p.I789V	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	789					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AATTCACGAATATTTTCCACG	0.264													19	22					0	0	0	0	C	45765889	T	C	45765889	3	2	364	1	0	0	0	0	1	0	0	0	14870	1406	49	5	1386	5	SMC1B	22	45765889	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	449549	45765889	5538677	2164	71093											
PKDREJ	10343	broad.mit.edu	37	chr22	46654239	46654239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggatgcatacgcattccatCcaacctgatctcagtatatt	11	13	6	11	1	1	1	1	1	1	0	4	2	3	2	3	1	3	3	3	1	4	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:46654239C>T	ENST00000253255.5	-	1	4980	c.4981G>A	c.(4981-4983)Gat>Aat	p.D1661N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1661					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGCATTCCATCCAACCTGATC	0.413													17	48					0	0	0	0	T	46654239	C	T	46654239	3	4	364	1	0	0	0	0	1	0	0	0	12042	855	30	2	1784	2	PKDREJ	22	46654239	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	888350	46654239	4650327	2165	71094											
CRELD2	79174	broad.mit.edu	37	chr22	50315256	50315256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagggcggatcccagaggCcctgcagcgggaatggccac	8	3	16	14	2	0	1	0	0	0	1	1	3	1	3	4	5	2	1	4	5	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:50315256C>T	ENST00000404488.3	+	5	574	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S	CRELD2_ENST00000328268.4_Missense_Mutation_p.P147S|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000407217.3_Missense_Mutation_p.P147S|CRELD2_ENST00000403427.3_Missense_Mutation_p.P147S	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	147	EGF-like 1.					endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		ATCCCAGAGGCCCTGCAGCGG	0.642													8	26					0	0	0	0	T	50315256	C	T	50315256	3	4	364	1	0	0	0	0	1	0	0	0	3897	739	26	4	457	4	CRELD2	22	50315256	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3661017	50315256	989310	2166	71095											
CRLF2	64109	broad.mit.edu	37	chrX	1314914	1314914	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccataatttccataaagaCagaaggaggagagacaccat	17	7	8	9	0	0	3	0	0	0	3	2	6	2	5	3	2	0	0	3	2	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:1314914C>G	ENST00000381567.3	-	6	746	c.747G>C	c.(745-747)ctG>ctC	p.L249L	CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	249						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCCATAAAGACAGAAGGAGGA	0.483			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								8	29					0	0	0	0	G	1314914	C	G	1314914	2	3	364	1	0	0	0	0	0	0	0	1	3917	465	17	4		4	CRLF2	23	1314914	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08		1314914	153955646	2167	71096											
ASMT	438	broad.mit.edu	37	chrX	1742148	1742148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcgcccatgggacagagctCctgctggacatctgtgtgtc	7	9	13	12	1	1	1	0	0	1	1	3	3	2	3	2	2	3	2	2	2	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:1742148C>T	ENST00000381241.3	+	2	385	c.186C>T	c.(184-186)ctC>ctT	p.L62L	ASMT_ENST00000381233.3_Silent_p.L62L|ASMT_ENST00000381229.4_Silent_p.L62L	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	62					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGACAGAGCTCCTGCTGGACA	0.617													7	85					0	0	0	0	T	1742148	C	T	1742148	2	4	364	1	0	0	0	0	0	0	0	1	1049	842	30	2		2	ASMT	23	1742148	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	427234	1742148	153528412	2168	71097											
ASMT	438	broad.mit.edu	37	chrX	1743190	1743190	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaaacacagagctgtccagCgactacctgaccacggtcag	12	5	10	14	3	1	2	1	1	0	1	2	4	2	2	3	1	4	1	3	1	2	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:1743190C>T	ENST00000381241.3	+	3	472	c.273C>T	c.(271-273)agC>agT	p.S91S	ASMT_ENST00000381233.3_Silent_p.S91S|ASMT_ENST00000381229.4_Silent_p.S91S	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	91					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCTGTCCAGCGACTACCTGA	0.572													31	369					0	0	0	0	T	1743190	C	T	1743190	2	4	364	1	0	0	0	0	0	0	0	1	1049	767	27	1		1	ASMT	23	1743190	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1042	1743190	153527370	2169	71098											
MXRA5	25878	broad.mit.edu	37	chrX	3239247	3239247	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaattgtggatggggacgaGgatgctggctccttcatccg	8	10	15	8	2	1	1	1	0	0	1	3	5	3	4	2	5	1	2	2	5	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:3239247G>A	ENST00000217939.6	-	5	4633	c.4479C>T	c.(4477-4479)tcC>tcT	p.S1493S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1493						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATGGGGACGAGGATGCTGGCT	0.483													24	40					0	0	0	0	A	3239247	G	A	3239247	2	1	364	1	0	0	0	0	0	0	0	1	10073	987	35	4		4	MXRA5	23	3239247	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1496057	3239247	152031313	2170	71099											
ARHGAP6	395	broad.mit.edu	37	chrX	11682604	11682604	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtcaaagtgaaagctgccGgatggtgacttctcctgcgg	9	10	13	9	2	2	2	1	2	1	0	3	3	2	3	2	3	3	1	2	3	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:11682604G>A	ENST00000337414.4	-	1	1217	c.345C>T	c.(343-345)tcC>tcT	p.S115S	ARHGAP6_ENST00000380718.1_Silent_p.S115S|ARHGAP6_ENST00000380732.3_Silent_p.S115S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	115					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GAAAGCTGCCGGATGGTGACT	0.657													13	5					0	0	0	0	A	11682604	G	A	11682604	2	1	364	1	0	0	0	0	0	0	0	1	889	1103	39	1		1	ARHGAP6	23	11682604	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	8443357	11682604	143587956	2171	71100											
KLHL34	257240	broad.mit.edu	37	chrX	21675148	21675148	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgtggtagttgagggcctgGatgatgaggcccttgacccg	6	10	17	8	1	0	4	0	4	0	0	0	5	0	5	3	4	0	2	3	4	1	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:21675148G>A	ENST00000379499.2	-	1	1300	c.759C>T	c.(757-759)atC>atT	p.I253I		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	253										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGAGGGCCTGGATGATGAGGC	0.692													8	6					0	0	0	0	A	21675148	G	A	21675148	2	1	364	1	0	0	0	0	0	0	0	1	8439	1164	41	2		2	KLHL34	23	21675148	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	9992544	21675148	133595412	2172	71101											
CXorf58	254158	broad.mit.edu	37	chrX	23933835	23933835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaattctatgtaacacatGaaatactgaagaaagtggcc	17	9	9	6	0	1	3	0	2	1	1	1	4	1	4	1	2	2	1	1	2	7	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:23933835G>A	ENST00000379211.3	+	4	784	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	79										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TGTAACACATGAAATACTGAA	0.378													11	14					0	0	0	0	A	23933835	G	A	23933835	3	1	364	1	0	0	0	0	1	0	0	0	4146	1291	45	2	245	2	CXorf58	23	23933835	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2258687	23933835	131336725	2173	71102											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29301114	29301114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcaagttttggtgggagagCctgttcgaatcaaatgtgca	11	12	12	6	1	2	1	2	0	0	1	3	3	2	1	1	2	2	3	1	2	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:29301114C>T	ENST00000378993.1	+	3	815	c.142C>T	c.(142-144)Cct>Tct	p.P48S	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.P48S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	48	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGTGGGAGAGCCTGTTCGAAT	0.398													22	18					0	0	0	0	T	29301114	C	T	29301114	3	4	364	1	0	0	0	0	1	0	0	0	7714	739	26	4	148	4	IL1RAPL1	23	29301114	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5367279	29301114	125969446	2174	71103											
DMD	1756	broad.mit.edu	37	chrX	32305752	32305752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcgttgcactttgcaatgCtgctgtcttcttgctatgaa	7	15	10	9	1	2	1	0	1	2	0	2	1	2	1	0	1	5	6	0	1	3	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:32305752C>A	ENST00000357033.4	-	43	6390	c.6184G>T	c.(6184-6186)Gca>Tca	p.A2062S	DMD_ENST00000378677.2_Missense_Mutation_p.A2058S	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2062					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTGCAATGCTGCTGTCTTC	0.368													10	27					1.08611e-07	1.1053e-07	1	0	A	32305752	C	A	32305752	3	1	364	1	0	0	0	0	1	0	0	0	4617	797	28	4	5169	4	DMD	23	32305752	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3004638	32305752	122964808	2175	71104											
FAM47A	158724	broad.mit.edu	37	chrX	34148023	34148023	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaaattgaaaactgcctaAtcttcttccgatgcctctac	12	13	5	11	1	3	1	0	1	3	0	4	2	4	1	3	0	4	1	3	0	6	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:34148023A>G	ENST00000346193.3	-	1	2424	c.2373T>C	c.(2371-2373)gaT>gaC	p.D791D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	791										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AAACTGCCTAATCTTCTTCCG	0.383													17	7					0	0	0	0	G	34148023	A	G	34148023	2	3	364	1	0	0	0	0	0	0	0	1	5616	98	4	5		5	FAM47A	23	34148023	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	1842271	34148023	121122537	2176	71105											
FAM47B	170062	broad.mit.edu	37	chrX	34961441	34961441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctggaggacgcttgggctCgttgtgaggcccgggagaag	7	7	19	8	3	0	2	0	1	0	1	1	5	0	4	1	5	1	4	1	5	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:34961441C>T	ENST00000329357.5	+	1	529	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	165										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CGCTTGGGCTCGTTGTGAGGC	0.597													17	24					0	0	0	0	T	34961441	C	T	34961441	3	4	364	1	0	0	0	0	1	0	0	0	5617	884	31	1	495	1	FAM47B	23	34961441	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	813418	34961441	120309119	2177	71106											
MAGEB16	139604	broad.mit.edu	37	chrX	35821010	35821010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaagtgctgaatttgacgGgagtatattctgggaagaag	12	10	16	3	1	1	3	0	2	1	1	1	6	1	6	0	3	1	2	0	3	6	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:35821010G>A	ENST00000399989.1	+	2	976	c.697G>A	c.(697-699)Gga>Aga	p.G233R	MAGEB16_ENST00000399985.1_Missense_Mutation_p.G233R|MAGEB16_ENST00000399992.1_Missense_Mutation_p.G265R|MAGEB16_ENST00000399987.1_Missense_Mutation_p.G233R|MAGEB16_ENST00000399988.1_Missense_Mutation_p.G233R	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	233	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAATTTGACGGGAGTATATTC	0.498													13	12					0	0	0	0	A	35821010	G	A	35821010	3	1	364	1	0	0	0	0	1	0	0	0	9243	1233	43	4	699	4	MAGEB16	23	35821010	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	859569	35821010	119449550	2178	71107											
USP9X	8239	broad.mit.edu	37	chrX	41077795	41077795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtctttattgcacatttttCcttgcaagatgggccatgtc	8	16	8	9	0	1	1	0	0	1	1	3	1	2	1	2	1	2	2	2	1	2	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:41077795C>T	ENST00000324545.7	+	37	7013	c.6380C>T	c.(6379-6381)tCc>tTc	p.S2127F	USP9X_ENST00000378308.2_Missense_Mutation_p.S2127F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2127					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCACATTTTTCCTTGCAAGAT	0.413													26	78					0	0	0	0	T	41077795	C	T	41077795	3	4	364	1	0	0	0	0	1	0	0	0	17186	855	30	2	6522	2	USP9X	23	41077795	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	5256785	41077795	114192765	2179	71108											
USP9X	8239	broad.mit.edu	37	chrX	41082519	41082519	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgagtgtacctgctactttTatgcttgtgtctttagatga	7	19	9	6	0	1	3	0	2	1	1	1	3	1	3	1	0	4	3	1	0	4	8			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:41082519T>A	ENST00000324545.7	+	39	7248	c.6615T>A	c.(6613-6615)ttT>ttA	p.F2205L	USP9X_ENST00000378308.2_Missense_Mutation_p.F2205L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2205					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTGCTACTTTTATGCTTGTGT	0.418													33	14					0	0	0	0	A	41082519	T	A	41082519	3	1	364	1	0	0	0	0	1	0	0	0	17186	1751	61	5	6765	5	USP9X	23	41082519	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	4724	41082519	114188041	2180	71109											
GPR34	2857	broad.mit.edu	37	chrX	41555478	41555478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttaacacttaagaaaggaGggcataattccacaatgtgt	15	12	8	6	0	0	1	0	0	0	1	1	2	1	2	1	2	1	1	1	2	5	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:41555478G>A	ENST00000378142.4	+	3	876	c.592G>A	c.(592-594)Ggg>Agg	p.G198R	GPR34_ENST00000378138.5_Missense_Mutation_p.G198R|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	198						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TAAGAAAGGAGGGCATAATTC	0.343													14	31					0	0	0	0	A	41555478	G	A	41555478	3	1	364	1	0	0	0	0	1	0	0	0	6738	1000	35	4	594	4	GPR34	23	41555478	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	472959	41555478	113715082	2181	71110											
CFP	5199	broad.mit.edu	37	chrX	47486606	47486606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccccgggcagggcttcccagGaggtttctgggagggctcag	5	7	17	12	1	2	0	1	0	1	0	3	2	3	2	3	6	0	4	3	6	0	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:47486606G>A	ENST00000247153.3	-	6	941	c.700C>T	c.(700-702)Cct>Tct	p.P234S	CFP_ENST00000377005.2_Missense_Mutation_p.P234S|CFP_ENST00000396992.3_Missense_Mutation_p.P234S	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	234	TSP type-1 3.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGCTTCCCAGGAGGTTTCTGG	0.662													8	7					0	0	0	0	A	47486606	G	A	47486606	3	1	364	1	0	0	0	0	1	0	0	0	3322	1174	41	2	729	2	CFP	23	47486606	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5931128	47486606	107783954	2182	71111											
SLC38A5	92745	broad.mit.edu	37	chrX	48318232	48318232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagctgaaggccttgcctgGgaaaagcagctgctgcaggg	9	6	15	11	0	0	1	0	1	0	0	0	2	0	2	3	3	6	5	3	3	3	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:48318232G>A	ENST00000376876.3	-	14	1942	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S	SLC38A5_ENST00000376875.1_Missense_Mutation_p.P316S|SLC38A5_ENST00000317669.5_Missense_Mutation_p.P367S|SLC38A5_ENST00000480105.1_5'UTR			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	367					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GCCTTGCCTGGGAAAAGCAGC	0.577													21	10					0	0	0	0	A	48318232	G	A	48318232	3	1	364	1	0	0	0	0	1	0	0	0	14695	1232	43	4	331	4	SLC38A5	23	48318232	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	831626	48318232	106952328	2183	71112											
DGKK	139189	broad.mit.edu	37	chrX	50147114	50147114	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaacattgcagtgctgggtCcggtggctgtaactggagta	9	10	14	8	1	0	0	0	0	0	0	1	1	1	1	1	4	4	5	1	4	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:50147114C>T	ENST00000376025.2	-	0	1070							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGTGCTGGGTCCGGTGGCTGT	0.438													15	5					0	0	0	0	T	50147114	C	T	50147114	1	4	364	0	1	0	0	0	0	0	0	0	4509	842	30	2		2	DGKK	23	50147114	RNA	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1828882	50147114	105123446	2184	71113											
MAGED1	9500	broad.mit.edu	37	chrX	51643373	51643373	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagactagcaagatgaaagTgctgagattcattgcagagg	14	9	13	5	0	1	5	1	3	0	4	1	7	1	5	0	1	3	3	0	1	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:51643373T>G	ENST00000375695.2	+	12	2261	c.2108T>G	c.(2107-2109)gTg>gGg	p.V703G	MAGED1_ENST00000326587.7_Missense_Mutation_p.V647G|MAGED1_ENST00000375722.1_Missense_Mutation_p.V647G|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.V647G	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	647					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AAGATGAAAGTGCTGAGATTC	0.512										Multiple Myeloma(10;0.10)			7	19					0	0	0	0	G	51643373	T	G	51643373	3	3	364	1	0	0	0	0	1	0	0	0	9252	1696	59	5	2150	5	MAGED1	23	51643373	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	1496259	51643373	103627187	2185	71114											
HUWE1	10075	broad.mit.edu	37	chrX	53588762	53588762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcaatgatgagatcatcctCccggtcaaagcgctcaaatc	12	9	7	13	2	4	2	4	2	0	1	7	3	6	2	2	1	1	1	2	1	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:53588762C>T	ENST00000342160.3	-	54	7919	c.7462G>A	c.(7462-7464)Gag>Aag	p.E2488K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2488K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2488	Asp-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGATCATCCTCCCGGTCAAAG	0.458													38	13					0	0	0	0	T	53588762	C	T	53588762	3	4	364	1	0	0	0	0	1	0	0	0	7514	864	30	2	5782	2	HUWE1	23	53588762	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1945389	53588762	101681798	2186	71115											
MAGED2	10916	broad.mit.edu	37	chrX	54837732	54837732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taaagaccagacgaagattcCcatcaagcgctcgggtaaag	15	6	10	10	3	1	3	1	0	0	3	3	4	2	3	2	1	1	2	2	1	6	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:54837732C>T	ENST00000375068.1	+	5	1129	c.896C>T	c.(895-897)cCc>cTc	p.P299L	MAGED2_ENST00000396224.1_Missense_Mutation_p.P299L|MAGED2_ENST00000218439.4_Missense_Mutation_p.P299L|MAGED2_ENST00000375060.1_Missense_Mutation_p.P214L|MAGED2_ENST00000343474.6_Missense_Mutation_p.P281L|MAGED2_ENST00000375053.2_Missense_Mutation_p.P299L|MAGED2_ENST00000375058.1_Missense_Mutation_p.P299L|MAGED2_ENST00000347546.3_Missense_Mutation_p.P243L|MAGED2_ENST00000375062.4_Missense_Mutation_p.P214L			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	299	MAGE.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ACGAAGATTCCCATCAAGCGC	0.478													16	37					0	0	0	0	T	54837732	C	T	54837732	3	4	364	1	0	0	0	0	1	0	0	0	9253	623	22	4	910	4	MAGED2	23	54837732	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1248970	54837732	100432828	2187	71116											
FOXR2	139628	broad.mit.edu	37	chrX	55650779	55650779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagaaacaacccccactgtgGcctcagtgtgcaggagatct	12	7	10	12	0	2	2	1	0	1	2	2	3	2	2	3	2	3	1	3	2	3	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:55650779G>A	ENST00000339140.3	+	1	947	c.635G>A	c.(634-636)gGc>gAc	p.G212D		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	212					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCCACTGTGGCCTCAGTGTG	0.493													37	59					0	0	0	0	A	55650779	G	A	55650779	3	1	364	1	0	0	0	0	1	0	0	0	6079	1203	42	4	637	4	FOXR2	23	55650779	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	813047	55650779	99619781	2188	71117											
UPRT	139596	broad.mit.edu	37	chrX	74519598	74519598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaacaaggtttacgagaCtgctgtcgatccatacgaat	13	10	10	8	3	0	1	0	0	0	1	2	5	1	2	1	2	4	2	1	2	5	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:74519598C>T	ENST00000373379.1	+	5	756	c.591C>T	c.(589-591)gaC>gaT	p.D197D	UPRT_ENST00000373383.4_Silent_p.D197D|UPRT_ENST00000530743.1_Silent_p.D61D			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	197					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GTTTACGAGACTGCTGTCGAT	0.408													46	12					0	0	0	0	T	74519598	C	T	74519598	2	4	364	1	0	0	0	0	0	0	0	1	17110	564	20	4		4	UPRT	23	74519598	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	18868819	74519598	80750962	2189	71118											
ATRX	546	broad.mit.edu	37	chrX	76890177	76890177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacagactcacagcagcaatCccacataaactgaacaccta	17	5	4	15	0	1	2	1	1	0	1	2	2	2	2	2	0	4	2	2	0	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:76890177C>T	ENST00000373344.5	-	17	4931	c.4717G>A	c.(4717-4719)Gat>Aat	p.D1573N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1535N	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1573					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CAGCAGCAATCCCACATAAAC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						207	55					0	0	0	0	T	76890177	C	T	76890177	3	4	364	1	0	0	0	0	1	0	0	0	1212	855	30	2	2837	2	ATRX	23	76890177	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2370579	76890177	78380383	2190	71119											
KLHL4	56062	broad.mit.edu	37	chrX	86773151	86773151	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaccggcccctgcccatcaGagagccgttcagaatttgca	9	7	11	14	2	2	2	2	0	0	2	2	4	2	3	5	2	3	2	5	2	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:86773151G>A	ENST00000373119.4	+	1	400	c.255G>A	c.(253-255)caG>caA	p.Q85Q	KLHL4_ENST00000373114.4_Silent_p.Q85Q	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	85						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.Q85H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTGCCCATCAGAGAGCCGTTC	0.453													8	46					0	0	0	0	A	86773151	G	A	86773151	2	1	364	1	0	0	0	0	0	0	0	1	8443	933	33	2		2	KLHL4	23	86773151	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	9882974	86773151	68497409	2191	71120											
KLHL4	56062	broad.mit.edu	37	chrX	86873069	86873069	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcaaactgcttagggattCgatcatttggagatgcccaa	11	12	9	9	1	2	1	2	0	0	1	3	4	2	2	1	2	3	1	1	2	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:86873069C>T	ENST00000373119.4	+	4	1007	c.862C>T	c.(862-864)Cga>Tga	p.R288*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.R288*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	288						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTTAGGGATTCGATCATTTGG	0.418													10	42					0	0	0	0	T	86873069	C	T	86873069	4	4	364	1	0	0	0	0	0	1	0	0	8443	876	31	1	876	1	KLHL4	23	86873069	Nonsense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	99918	86873069	68397491	2192	71121											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177627	89177627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagtcggcccctagccaGaagctcaccggaatagccca	10	4	11	16	3	1	1	1	0	0	1	2	3	1	3	6	3	3	1	6	3	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:89177627G>T	ENST00000561129.2	+	1	673	c.543G>T	c.(541-543)caG>caT	p.Q181H	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.Q181H			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	181						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCCCTAGCCAGAAGCTCACCG	0.562													5	42					5.18039e-06	5.25809e-06	1	0	T	89177627	G	T	89177627	3	4	364	1	0	0	0	0	1	0	0	0	15921	933	33	2	545	2	TGIF2LX	23	89177627	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	2304558	89177627	66092933	2193	71122											
PCDH11X	27328	broad.mit.edu	37	chrX	91132697	91132697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcctggcatccagttgacGaaagtaagtgcaatggatgc	11	10	11	9	1	1	1	0	1	1	0	3	3	2	2	2	2	2	4	2	2	3	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:91132697G>A	ENST00000373094.1	+	2	2303	c.1458G>A	c.(1456-1458)acG>acA	p.T486T	PCDH11X_ENST00000373097.1_Silent_p.T486T|PCDH11X_ENST00000395337.2_Silent_p.T486T|PCDH11X_ENST00000406881.1_Silent_p.T486T|PCDH11X_ENST00000361655.2_Silent_p.T486T|PCDH11X_ENST00000361724.1_Silent_p.T486T|PCDH11X_ENST00000298274.8_Silent_p.T486T|PCDH11X_ENST00000373088.1_Silent_p.T486T|PCDH11X_ENST00000504220.1_Silent_p.T486T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	486	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCCAGTTGACGAAAGTAAGTG	0.443													70	22					0	0	0	0	A	91132697	G	A	91132697	2	1	364	1	0	0	0	0	0	0	0	1	11579	1045	37	1		1	PCDH11X	23	91132697	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1955070	91132697	64137863	2194	71123											
PCDH11X	27328	broad.mit.edu	37	chrX	91642907	91642907	+	Silent	SNP	G	G	A																															cccagcaatcgcactgaaggGgatggcaactccgatcctga																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:91642907G>A	ENST00000373094.1	+	5	4163	c.3318G>A	c.(3316-3318)ggG>ggA	p.G1106G	PCDH11X_ENST00000373097.1_Silent_p.G1096G|PCDH11X_ENST00000406881.1_Silent_p.G1106G|PCDH11X_ENST00000361655.2_Silent_p.G1096G|PCDH11X_ENST00000298274.8_Silent_p.G1069G|PCDH11X_ENST00000373088.1_Silent_p.G1069G|PCDH11X_ENST00000504220.1_Intron	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1106					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCACTGAAGGGGATGGCAACT	0.488													33	10					0	0	0	0	A	91642907	G	A	91642907	2	1	364	1	0	0	0	0	0	0	0	1	11579	1219	43	4		4	PCDH11X	23	91642907	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	510210	91642907	63627653	2195	71124	979	2									
PCDH11X	27328	broad.mit.edu	37	chrX	91642908	91642908	+	Missense_Mutation	SNP	G	G	A																															ccagcaatcgcactgaagggGatggcaactccgatcctgaa																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:91642908G>A	ENST00000373094.1	+	5	4164	c.3319G>A	c.(3319-3321)Gat>Aat	p.D1107N	PCDH11X_ENST00000373097.1_Missense_Mutation_p.D1097N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D1107N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D1097N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D1070N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D1070N|PCDH11X_ENST00000504220.1_Intron	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1107					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CACTGAAGGGGATGGCAACTC	0.488													31	10					0	0	0	0	A	91642908	G	A	91642908	3	1	364	1	0	0	0	0	1	0	0	0	11579	1174	41	2	3459	2	PCDH11X	23	91642908	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	91642908	63627652	2196	71125	979	2									
DIAPH2	1730	broad.mit.edu	37	chrX	96369956	96369956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatttaagatcaacttcCtttgtaaggtaagatgacat	13	14	9	5	0	1	3	1	1	0	2	2	4	2	4	1	2	1	2	1	2	4	6			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:96369956C>T	ENST00000324765.8	+	21	2928	c.2581C>T	c.(2581-2583)Ctt>Ttt	p.L861F	DIAPH2_ENST00000355827.4_Missense_Mutation_p.L861F|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L857F|DIAPH2_ENST00000373049.4_Missense_Mutation_p.L861F|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L861F			O60879	DIAP2_HUMAN	diaphanous-related formin 2	861	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GATCAACTTCCTTTGTAAGGT	0.333													17	24					0	0	0	0	T	96369956	C	T	96369956	3	4	364	1	0	0	0	0	1	0	0	0	4556	681	24	4	2663	4	DIAPH2	23	96369956	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	4727048	96369956	58900604	2197	71126											
SRPX2	27286	broad.mit.edu	37	chrX	99920267	99920267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccccccaagatccgctgtcCccactcacgtgagaagatgg	9	7	9	16	2	1	3	1	1	0	3	4	4	4	3	6	1	0	1	6	1	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:99920267C>T	ENST00000373004.3	+	6	988	c.560C>T	c.(559-561)cCc>cTc	p.P187L		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	187	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ATCCGCTGTCCCCACTCACGT	0.527													6	15					0	0	0	0	T	99920267	C	T	99920267	3	4	364	1	0	0	0	0	1	0	0	0	15255	623	22	4	578	4	SRPX2	23	99920267	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	3550311	99920267	55350293	2198	71127											
GPRASP1	9737	broad.mit.edu	37	chrX	101910958	101910958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaagaggacattgtcaattCgtggttctggtccagaaaat	12	11	12	6	1	2	2	1	0	1	2	4	4	3	4	1	4	0	1	1	4	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:101910958C>T	ENST00000537097.1	+	6	2930	c.2117C>T	c.(2116-2118)tCg>tTg	p.S706L	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.S706L|GPRASP1_ENST00000415986.1_Missense_Mutation_p.S706L|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S706L	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	706	Glu-rich.					cytoplasm	protein binding	p.S706L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATTGTCAATTCGTGGTTCTGG	0.473													49	91					0	0	0	0	T	101910958	C	T	101910958	3	4	364	1	0	0	0	0	1	0	0	0	6772	893	31	1	2119	1	GPRASP1	23	101910958	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1990691	101910958	53359602	2199	71128											
TSC22D3	1831	broad.mit.edu	37	chrX	106957810	106957810	+	Missense_Mutation	SNP	G	G	A																															attcgggagctggctcttcaGggctcagacaggactggaac																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:106957810G>A	ENST00000372383.4	-	3	909	c.542C>T	c.(541-543)cCt>cTt	p.P181L	TSC22D3_ENST00000506081.1_Missense_Mutation_p.P181L|TSC22D3_ENST00000315660.4_Missense_Mutation_p.P181L|TSC22D3_ENST00000372397.2_Missense_Mutation_p.P115L|TSC22D3_ENST00000372384.2_Missense_Mutation_p.P181L|TSC22D3_ENST00000514426.1_Missense_Mutation_p.P113L|TSC22D3_ENST00000372390.4_Missense_Mutation_p.P58L|TSC22D3_ENST00000372382.4_Missense_Mutation_p.P91L	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	115							sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						TGGCTCTTCAGGGCTCAGACA	0.597													101	20					0	0	0	0	A	106957810	G	A	106957810	3	1	364	1	0	0	0	0	1	0	0	0	16704	1000	35	4	64	4	TSC22D3	23	106957810	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5046852	106957810	48312750	2200	71129	980	2									
TSC22D3	1831	broad.mit.edu	37	chrX	106957811	106957811	+	Missense_Mutation	SNP	G	G	A																															ttcgggagctggctcttcagGgctcagacaggactggaact																										TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:106957811G>A	ENST00000372383.4	-	3	908	c.541C>T	c.(541-543)Cct>Tct	p.P181S	TSC22D3_ENST00000506081.1_Missense_Mutation_p.P181S|TSC22D3_ENST00000315660.4_Missense_Mutation_p.P181S|TSC22D3_ENST00000372397.2_Missense_Mutation_p.P115S|TSC22D3_ENST00000372384.2_Missense_Mutation_p.P181S|TSC22D3_ENST00000514426.1_Missense_Mutation_p.P113S|TSC22D3_ENST00000372390.4_Missense_Mutation_p.P58S|TSC22D3_ENST00000372382.4_Missense_Mutation_p.P91S	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	115							sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						GGCTCTTCAGGGCTCAGACAG	0.592													105	21					0	0	0	0	A	106957811	G	A	106957811	3	1	364	1	0	0	0	0	1	0	0	0	16704	1232	43	4	65	4	TSC22D3	23	106957811	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1	106957811	48312749	2201	71130	980	2									
AMOT	154796	broad.mit.edu	37	chrX	112021852	112021852	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccaggatctgaatgggAgtttttctttccagagtatt	8	16	10	7	0	2	2	0	1	2	1	4	4	4	4	2	2	0	2	2	2	2	5			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:112021852A>G	ENST00000371959.3	-	11	3197	c.3198T>C	c.(3196-3198)acT>acC	p.T1066T	AMOT_ENST00000371962.1_Silent_p.T834T|AMOT_ENST00000304758.1_Silent_p.T657T|AMOT_ENST00000524145.1_Silent_p.T1066T	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	1066					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCTGAATGGGAGTTTTTCTTT	0.403													70	241					0	0	0	0	G	112021852	A	G	112021852	2	3	364	1	0	0	0	0	0	0	0	1	582	291	11	5		5	AMOT	23	112021852	Silent	SNP	A	TCGA-D6-6516-01A-11D-1870-08	5064041	112021852	43248708	2202	71131											
ZCCHC12	170261	broad.mit.edu	37	chrX	117960306	117960306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgacaacgagagtgacaagGcccaggtttttgagaatttg	12	10	13	6	1	0	4	0	3	0	2	0	6	0	4	1	2	1	1	1	2	3	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:117960306G>A	ENST00000310164.2	+	4	1606	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GAGTGACAAGGCCCAGGTTTT	0.498													17	75					0	0	0	0	A	117960306	G	A	117960306	3	1	364	1	0	0	0	0	1	0	0	0	17676	1203	42	4	1101	4	ZCCHC12	23	117960306	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	5938454	117960306	37310254	2203	71132											
ATP1B4	23439	broad.mit.edu	37	chrX	119513343	119513343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaggttaactacacatccCccttggtggcaatgcacttt	9	12	8	12	0	0	0	0	0	0	0	1	0	1	0	2	3	4	4	2	3	3	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:119513343C>T	ENST00000218008.3	+	8	985	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	ATP1B4_ENST00000539306.1_Missense_Mutation_p.P267S|ATP1B4_ENST00000361319.3_Missense_Mutation_p.P306S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	310					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.P306T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CTACACATCCCCCTTGGTGGC	0.473													67	139					0	0	0	0	T	119513343	C	T	119513343	3	4	364	1	0	0	0	0	1	0	0	0	1139	623	22	4	958	4	ATP1B4	23	119513343	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	1553037	119513343	35757217	2204	71133											
GLUD2	2747	broad.mit.edu	37	chrX	120181905	120181905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtctctccttccccatcCggcgcgacgacggctcctgg	4	9	11	17	5	1	1	0	1	1	0	6	3	5	1	5	3	0	1	5	3	0	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:120181905C>T	ENST00000328078.1	+	1	444	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	123					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTTCCCCATCCGGCGCGACGA	0.642													26	28					0	0	0	0	T	120181905	C	T	120181905	3	4	364	1	0	0	0	0	1	0	0	0	6528	643	23	1	369	1	GLUD2	23	120181905	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	668562	120181905	35088655	2205	71134											
ACTRT1	139741	broad.mit.edu	37	chrX	127185831	127185831	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catttctgctagcttttctcGaatttccctaggattcaaag	9	16	6	10	1	3	0	1	0	2	0	5	2	4	1	1	1	2	2	1	1	4	7			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:127185831G>A	ENST00000371124.3	-	1	551	c.355C>T	c.(355-357)Cga>Tga	p.R119*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	119						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGCTTTTCTCGAATTTCCCTA	0.493													251	72					0	0	0	0	A	127185831	G	A	127185831	4	1	364	1	0	0	0	0	0	1	0	0	218	1066	37	1	779	1	ACTRT1	23	127185831	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	7003926	127185831	28084729	2206	71135											
SASH3	54440	broad.mit.edu	37	chrX	128926347	128926347	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggttctggcagcttcggGgaggaaccacctgcccccca	7	6	12	16	1	1	0	0	0	1	0	2	2	1	2	6	5	3	3	6	5	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:128926347G>A	ENST00000356892.3	+	5	600	c.486G>A	c.(484-486)ggG>ggA	p.G162G		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	162										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GCAGCTTCGGGGAGGAACCAC	0.627													29	102					0	0	0	0	A	128926347	G	A	128926347	2	1	364	1	0	0	0	0	0	0	0	1	13935	1219	43	4		4	SASH3	23	128926347	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	1740516	128926347	26344213	2207	71136											
GPR119	139760	broad.mit.edu	37	chrX	129519167	129519167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggcagctgcggaggaagtGacaaatgccatccgcaggct	11	5	15	10	2	0	1	0	1	0	0	1	4	1	3	2	4	3	4	2	4	2	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:129519167G>A	ENST00000276218.2	-	1	344	c.255C>T	c.(253-255)gtC>gtT	p.V85V		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	85						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CGGAGGAAGTGACAAATGCCA	0.567													25	147					0	0	0	0	A	129519167	G	A	129519167	2	1	364	1	0	0	0	0	0	0	0	1	6683	1277	45	2		2	GPR119	23	129519167	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	592820	129519167	25751393	2208	71137											
ARHGAP36	158763	broad.mit.edu	37	chrX	130217753	130217753	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcctggaagaggtcctggTgaacgagtttacccgccgca	9	8	13	11	3	0	2	0	1	0	1	1	4	1	3	4	3	3	2	4	3	4	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:130217753T>G	ENST00000276211.5	+	4	710	c.365T>G	c.(364-366)gTg>gGg	p.V122G	ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.V110G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	122					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAGGTCCTGGTGAACGAGTTT	0.552													115	75					0	0	0	0	G	130217753	T	G	130217753	3	3	364	1	0	0	0	0	1	0	0	0	885	1696	59	5	375	5	ARHGAP36	23	130217753	Missense_Mutation	SNP	T	TCGA-D6-6516-01A-11D-1870-08	698586	130217753	25052807	2209	71138											
IGSF1	3547	broad.mit.edu	37	chrX	130411004	130411004	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctccatcaccaatgccCaccgaaatgattagaaagtg	13	9	6	13	1	1	2	1	1	0	1	3	3	3	2	5	0	1	0	5	0	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:130411004C>T	ENST00000370904.1	-	20	3400	c.2490G>A	c.(2488-2490)gtG>gtA	p.V830V	IGSF1_ENST00000361420.3_Silent_p.V839V|IGSF1_ENST00000370903.3_Silent_p.V844V|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Silent_p.V830V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	839	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CACCAATGCCCACCGAAATGA	0.502													71	284					0	0	0	0	T	130411004	C	T	130411004	2	4	364	1	0	0	0	0	0	0	0	1	7649	581	21	4		4	IGSF1	23	130411004	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	193251	130411004	24859556	2210	71139											
IGSF1	3547	broad.mit.edu	37	chrX	130413126	130413126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaaactcaccagtctcttCtatcaataccccattgcaca	14	10	3	14	0	4	0	2	0	2	0	5	1	4	0	3	0	3	1	3	0	5	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:130413126C>T	ENST00000370904.1	-	17	2624	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	IGSF1_ENST00000361420.3_Missense_Mutation_p.E581K|IGSF1_ENST00000370903.3_Missense_Mutation_p.E586K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E572K			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	581					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCAGTCTCTTCTATCAATACC	0.582													81	103					0	0	0	0	T	130413126	C	T	130413126	3	4	364	1	0	0	0	0	1	0	0	0	7649	922	32	2	2309	2	IGSF1	23	130413126	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	2122	130413126	24857434	2211	71140											
SPANXN2	494119	broad.mit.edu	37	chrX	142795189	142795189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagtctaggtcttcgtcCtcctgtgaagatccttcagg	7	13	11	10	1	3	3	1	2	2	1	7	4	6	3	3	2	0	0	3	2	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:142795189C>T	ENST00000370498.1	-	2	1242	c.489G>A	c.(487-489)gaG>gaA	p.E163E		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	163										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCTTCGTCCTCCTGTGAAG	0.502													82	428					0	0	0	0	T	142795189	C	T	142795189	2	4	364	1	0	0	0	0	0	0	0	1	15081	680	24	4		4	SPANXN2	23	142795189	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	12382063	142795189	12475371	2212	71141											
GABRQ	55879	broad.mit.edu	37	chrX	151821298	151821298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctaccgaaatccgcaacCgtgtcgaagcccatggccat	10	8	8	15	4	0	0	0	0	0	0	3	2	2	0	6	1	3	1	6	1	4	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:151821298C>T	ENST00000370306.2	+	9	1473	c.1453C>T	c.(1453-1455)Cgt>Tgt	p.R485C		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	485						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					AATCCGCAACCGTGTCGAAGC	0.557													24	162					0	0	0	0	T	151821298	C	T	151821298	3	4	364	1	0	0	0	0	1	0	0	0	6223	652	23	1	1487	1	GABRQ	23	151821298	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	9026109	151821298	3449262	2213	71142											
ATP2B3	492	broad.mit.edu	37	chrX	152806879	152806879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctacgggcagaacttcatcCccccaaagcaacccaagacc	13	5	6	17	1	2	2	1	0	1	2	3	2	3	2	5	1	4	2	5	1	5	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:152806879C>T	ENST00000370186.1	+	3	597	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S	ATP2B3_ENST00000370181.2_Missense_Mutation_p.P91S|ATP2B3_ENST00000349466.2_Missense_Mutation_p.P91S|ATP2B3_ENST00000263519.4_Missense_Mutation_p.P91S|ATP2B3_ENST00000359149.3_Missense_Mutation_p.P91S|ATP2B3_ENST00000393842.1_Missense_Mutation_p.P91S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	91					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAACTTCATCCCCCCAAAGCA	0.622													14	30					0	0	0	0	T	152806879	C	T	152806879	3	4	364	1	0	0	0	0	1	0	0	0	1145	623	22	4	277	4	ATP2B3	23	152806879	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	985581	152806879	2463681	2214	71143											
ATP2B3	492	broad.mit.edu	37	chrX	152807134	152807134	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcctccgcacagcctgtggGaatgtgtcgggaggcgcaga	7	7	16	11	3	0	1	0	0	0	1	3	3	2	3	3	3	1	2	3	3	1	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:152807134G>T	ENST00000370186.1	+	4	740	c.414G>T	c.(412-414)ggG>ggT	p.G138G	ATP2B3_ENST00000370181.2_Silent_p.G138G|ATP2B3_ENST00000349466.2_Silent_p.G138G|ATP2B3_ENST00000263519.4_Silent_p.G138G|ATP2B3_ENST00000359149.3_Silent_p.G138G|ATP2B3_ENST00000393842.1_Silent_p.G138G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	138					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCTGTGGGAATGTGTCGG	0.617													49	19					1.83081e-24	1.90689e-24	1	0	T	152807134	G	T	152807134	2	4	364	1	0	0	0	0	0	0	0	1	1145	1161	41	2		2	ATP2B3	23	152807134	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	255	152807134	2463426	2215	71144											
PNCK	139728	broad.mit.edu	37	chrX	152938472	152938472	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgcacactcacgagccgagCctctcgcggatctcgtagac	8	6	11	16	6	3	1	1	0	2	1	5	4	3	2	2	1	2	2	2	1	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:152938472C>T	ENST00000393831.2	-	2	494	c.60G>A	c.(58-60)agG>agA	p.R20R	PNCK_ENST00000447676.2_Silent_p.R103R|PNCK_ENST00000340888.3_Silent_p.R20R|PNCK_ENST00000370150.1_Silent_p.R20R|PNCK_ENST00000370142.1_Silent_p.R20R|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Silent_p.R37R	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	20	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					acGAGCCGAGCCTCTCGCGGA	0.597													4	13					0	0	0	0	T	152938472	C	T	152938472	2	4	364	1	0	0	0	0	0	0	0	1	12217	738	26	4		4	PNCK	23	152938472	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	131338	152938472	2332088	2216	71145											
RENBP	5973	broad.mit.edu	37	chrX	153208459	153208459	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccggggccccctggagctGgggccggcccagtcccgacg	4	3	17	17	4	0	0	0	0	0	0	1	2	1	1	6	6	2	1	6	6	0	0			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153208459G>A	ENST00000412763.1	-	6	704	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000369997.3_Nonsense_Mutation_p.Q165*|RENBP_ENST00000393700.3_Nonsense_Mutation_p.Q179*			P51606	RENBP_HUMAN	renin binding protein	179					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CCCTGGAGCTGGGGCCGGCCC	0.692													10	36					0	0	0	0	A	153208459	G	A	153208459	4	1	364	1	0	0	0	0	0	1	0	0	13307	1357	47	4	772	4	RENBP	23	153208459	Nonsense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	269987	153208459	2062101	2217	71146											
HCFC1	3054	broad.mit.edu	37	chrX	153225815	153225815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggccagcccgagcacgggGgatgttgtcctccagtgtat	6	9	15	11	2	0	0	0	0	0	0	2	2	2	1	4	3	2	3	4	3	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153225815G>A	ENST00000310441.7	-	7	1921	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	HCFC1_ENST00000354233.3_Missense_Mutation_p.P319S|HCFC1_ENST00000369984.4_Missense_Mutation_p.P319S|HCFC1_ENST00000461098.1_5'UTR	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	319					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGCACGGGGGATGTTGTCC	0.617													9	11					0	0	0	0	A	153225815	G	A	153225815	3	1	364	1	0	0	0	0	1	0	0	0	7041	1232	43	4	5232	4	HCFC1	23	153225815	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	17356	153225815	2044745	2218	71147											
TKTL1	8277	broad.mit.edu	37	chrX	153524312	153524312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagccgcttgcgaatcCattccatcagggccacatgc	8	8	10	15	2	1	0	1	0	0	0	3	1	3	0	5	2	3	1	5	2	1	2			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153524312C>T	ENST00000369915.3	+	1	289	c.100C>T	c.(100-102)Cat>Tat	p.H34Y	TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	34					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGCGAATCCATTCCATCAG	0.622													21	112					0	0	0	0	T	153524312	C	T	153524312	3	4	364	1	0	0	0	0	1	0	0	0	16029	594	21	4	102	4	TKTL1	23	153524312	Missense_Mutation	SNP	C	TCGA-D6-6516-01A-11D-1870-08	298497	153524312	1746248	2219	71148											
TKTL1	8277	broad.mit.edu	37	chrX	153539193	153539193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcttgctccagctaccgGgtgttctgcctcatgagtga	5	14	11	11	1	3	2	1	2	2	0	4	2	4	2	3	1	4	3	3	1	1	4			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153539193G>A	ENST00000369915.3	+	4	546	c.357G>A	c.(355-357)cgG>cgA	p.R119R	TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Silent_p.R63R	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	119					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGCTACCGGGTGTTCTGCC	0.527													68	14					0	0	0	0	A	153539193	G	A	153539193	2	1	364	1	0	0	0	0	0	0	0	1	16029	1219	43	4		4	TKTL1	23	153539193	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	14881	153539193	1731367	2220	71149											
FLNA	2316	broad.mit.edu	37	chrX	153589715	153589715	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacagcttccagaggaaaGgggctgccaggcacgggcac	10	3	15	13	1	0	1	0	0	0	1	1	2	1	2	3	5	2	4	3	5	1	1			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153589715G>A	ENST00000422373.1	-	21	3416	c.3168C>T	c.(3166-3168)ccC>ccT	p.P1056P	FLNA_ENST00000360319.4_Silent_p.P1056P|FLNA_ENST00000369850.3_Silent_p.P1056P|FLNA_ENST00000344736.4_Silent_p.P1056P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1056					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGAGGAAAGGGGCTGCCAG	0.632													44	22					0	0	0	0	A	153589715	G	A	153589715	2	1	364	1	0	0	0	0	0	0	0	1	5978	987	35	4		4	FLNA	23	153589715	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08	50522	153589715	1680845	2221	71150											
FLNA	2316	broad.mit.edu	37	chrX	153590083	153590083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttgctgaggtccaggcttgGagatactgccactgagaaag	10	9	13	9	0	0	3	0	2	0	2	1	5	1	3	2	3	3	2	2	3	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153590083G>A	ENST00000422373.1	-	20	3147	c.2899C>T	c.(2899-2901)Cca>Tca	p.P967S	FLNA_ENST00000360319.4_Missense_Mutation_p.P967S|FLNA_ENST00000369850.3_Missense_Mutation_p.P967S|FLNA_ENST00000344736.4_Missense_Mutation_p.P967S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	967					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCAGGCTTGGAGATACTGCC	0.562													13	76					0	0	0	0	A	153590083	G	A	153590083	3	1	364	1	0	0	0	0	1	0	0	0	5978	1174	41	2	5160	2	FLNA	23	153590083	Missense_Mutation	SNP	G	TCGA-D6-6516-01A-11D-1870-08	368	153590083	1680477	2222	71151											
ATP6AP1	537	broad.mit.edu	37	chrX	153660716	153660716	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagctcggggccagcccCttgcatgtggacctggccac	7	6	14	14	1	0	1	0	0	0	1	1	3	0	2	5	4	3	2	5	4	1	1	rs142472086		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153660716C>T	ENST00000369762.2	+	4	529	c.468C>T	c.(466-468)ccC>ccT	p.P156P	ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	156					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCCAGCCCCTTGCATGTGG	0.647													3	27					0	0	0	0	T	153660716	C	T	153660716	2	4	364	1	0	0	0	0	0	0	0	1	1169	668	24	4		4	ATP6AP1	23	153660716	Silent	SNP	C	TCGA-D6-6516-01A-11D-1870-08	70633	153660716	1609844	2223	71152											
KDM5D	8284	broad.mit.edu	37	chrY	21869120	21869120	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctctggtctgggtttGgcctgtagctgttggcgaag	3	13	15	10	1	2	0	0	0	2	0	3	1	3	0	3	4	1	4	3	4	2	3			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrY:21869120G>T	ENST00000541639.1	-	25	4292	c.4005C>A	c.(4003-4005)gcC>gcA	p.A1335A	KDM5D_ENST00000382806.2_Silent_p.A1247A|KDM5D_ENST00000317961.4_Silent_p.A1304A	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1304					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GTCTGGGTTTGGCCTGTAGCT	0.557													3	3					6.4e-05	6.47656e-05	1	0	T	21869120	G	T	21869120	2	4	364	1	0	0	0	0	0	0	0	1	8188	1335	47	4		4	KDM5D	24	21869120	Silent	SNP	G	TCGA-D6-6516-01A-11D-1870-08		21869120	37504446	2224	71153											
EPHB2	2048	broad.mit.edu	37	chr1	23219501	23219501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccgtggcaggttacgggcGctacagcggcaagatgtact	9	7	14	11	4	0	1	0	0	0	1	0	1	0	1	1	4	4	5	1	4	4	3			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:23219501G>A	ENST00000400191.3	+	7	1571	c.1553G>A	c.(1552-1554)cGc>cAc	p.R518H	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.R518H|EPHB2_ENST00000374627.1_Missense_Mutation_p.R513H|EPHB2_ENST00000374630.3_Missense_Mutation_p.R518H	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	518	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGTTACGGGCGCTACAGCGGC	0.592													19	50					0	0	0	0	A	23219501	G	A	23219501	3	1	365	1	0	0	0	0	1	0	0	0	5213	1087	38	1	1579	1	EPHB2	1	23219501	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08		23219501	226031120	1	71154											
NRD1	4898	broad.mit.edu	37	chr1	52256303	52256304	+	Frame_Shift_Ins	INS	-	-	CC																															gtatcctcacactccttcagINScttgatgagagctgtgacct																										TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:52256303_52256304insCC	ENST00000354831.7	-	31	3462_3463	c.3273_3274insGG	c.(3271-3276)aatgaafs	p.NE1091fs	NRD1_ENST00000539524.1_Frame_Shift_Ins_p.NE959fs|NRD1_ENST00000352171.7_Frame_Shift_Ins_p.NE1023fs|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	1022					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CACTCCTTCAGCTTGATGAGAG	0.545													14	67	---	---	---	---					CC	52256304	-	CC	52256303	7	5	365	1	0	1	1	0	0	0	0	0	10716	962	34	0	397	0	NRD1	1	52256303	Frame_Shift_Ins	INS	-	TCGA-D6-6517-01A-11D-1870-08	29036802	52256303	196994318	2	71155											
C1orf173	127254	broad.mit.edu	37	chr1	75072553	75072553	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctagatttcggcaaagaCggttttttgtcaaggcccat	9	14	9	9	2	1	2	1	0	0	2	3	2	2	2	2	3	0	2	2	3	3	6			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:75072553C>T	ENST00000326665.5	-	10	1439	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	C1orf173_ENST00000420661.2_Silent_p.P210P|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	407										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						TCGGCAAAGACGGTTTTTTGT	0.418													23	115					0	0	0	0	T	75072553	C	T	75072553	2	4	365	1	0	0	0	0	0	0	0	1	2033	523	19	1		1	C1orf173	1	75072553	Silent	SNP	C	TCGA-D6-6517-01A-11D-1870-08	22816250	75072553	174178068	3	71156											
RBM15	64783	broad.mit.edu	37	chr1	110884597	110884598	+	Frame_Shift_Ins	INS	-	-	T																															gtagcagggcccaatggttaINStgccattcttttggctgtgc																										TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:110884597_110884598insT	ENST00000369784.3	+	1	3470_3471	c.2570_2571insT	c.(2569-2571)tgcfs	p.C857fs	RBM15_ENST00000487146.2_Frame_Shift_Ins_p.C857fs|RBM15_ENST00000602849.1_Frame_Shift_Ins_p.C857fs	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	857	SPOC.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCAATGGTTATGCCATTCTTT	0.54			T	MKL1	acute megakaryocytic leukemia								53	111	---	---	---	---					T	110884598	-	T	110884597	7	5	365	1	0	1	1	0	0	0	0	0	13198	449	16	0	2572	0	RBM15	1	110884597	Frame_Shift_Ins	INS	-	TCGA-D6-6517-01A-11D-1870-08	35812044	110884597	138366024	4	71157											
C1orf51	148523	broad.mit.edu	37	chr1	150255844	150255844	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagaggggaggttcacGgcccagcccgggtcctatcc	6	6	16	13	2	1	1	1	0	0	1	3	2	3	2	4	6	1	2	4	6	1	2			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:150255844G>C	ENST00000290363.5	+	1	616	c.167G>C	c.(166-168)cGg>cCg	p.R56P	C1orf51_ENST00000369094.1_Intron|C1orf51_ENST00000369095.1_Missense_Mutation_p.R56P|C1orf51_ENST00000469255.1_3'UTR	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	56										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGGTTCACGGCCCAGCCCG	0.602													8	170					0	0	0	0	C	150255844	G	C	150255844	3	2	365	1	0	0	0	0	1	0	0	0	2063	1116	39	3	169	3	C1orf51	1	150255844	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08	39371247	150255844	98994777	5	71158											
ZNF687	57592	broad.mit.edu	37	chr1	151261022	151261023	+	Frame_Shift_Ins	INS	-	-	T																															ggtgtgcccaacctgccccaINStgatgctccccaatcgctgc																										TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:151261022_151261023insT	ENST00000368879.2	+	3	2232_2233	c.2134_2135insT	c.(2134-2136)gatfs	p.D712fs		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AACCTGCCCCATGATGCTCCCC	0.574													16	50	---	---	---	---					T	151261023	-	T	151261022	7	5	365	1	0	1	1	0	0	0	0	0	18187	217	8	0	2140	0	ZNF687	1	151261022	Frame_Shift_Ins	INS	-	TCGA-D6-6517-01A-11D-1870-08	1005178	151261022	97989599	6	71159											
OR10R2	343406	broad.mit.edu	37	chr1	158450102	158450102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttatgatcgctatgctgcCatttgtcaccctctgcatta	7	15	8	11	1	2	1	1	1	1	0	3	1	2	1	2	1	3	4	2	1	3	4			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:158450102C>T	ENST00000368152.1	+	1	435	c.435C>T	c.(433-435)gcC>gcT	p.A145A	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GCTATGCTGCCATTTGTCACC	0.488													45	205					0	0	0	0	T	158450102	C	T	158450102	2	4	365	1	0	0	0	0	0	0	0	1	10988	581	21	4		4	OR10R2	1	158450102	Silent	SNP	C	TCGA-D6-6517-01A-11D-1870-08	7189080	158450102	90800519	7	71160											
PCNXL2	80003	broad.mit.edu	37	chr1	233313598	233313598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcagctgactctgccaGattttgatgtaaaaatttag	12	13	9	7	0	2	3	1	2	1	1	2	3	2	3	1	0	3	3	1	0	4	5			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:233313598G>T	ENST00000258229.8	-	17	3457	c.3223C>A	c.(3223-3225)Ctg>Atg	p.L1075M	PCNXL2_ENST00000488780.2_Missense_Mutation_p.L208M	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1075						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GACTCTGCCAGATTTTGATGT	0.428													4	52					1.23904e-05	1.42556e-05	1	0	T	233313598	G	T	233313598	3	4	365	1	0	0	0	0	1	0	0	0	11663	933	33	2	3262	2	PCNXL2	1	233313598	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08	74863496	233313598	15937023	8	71161											
LCLAT1	253558	broad.mit.edu	37	chr2	30790956	30790956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgaagtaatgcatttgCtgaaaaaaatggacttcaga	15	11	9	6	1	2	2	1	1	1	1	3	4	2	3	0	1	2	3	0	1	5	3			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr2:30790956C>T	ENST00000309052.4	+	6	865	c.656C>T	c.(655-657)gCt>gTt	p.A219V	LCLAT1_ENST00000319406.4_Missense_Mutation_p.A219V|LCLAT1_ENST00000540623.1_Missense_Mutation_p.A181V|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.A181V|LCLAT1_ENST00000359433.1_Missense_Mutation_p.A219V	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	219					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						AATGCATTTGCTGAAAAAAAT	0.338													10	54					0	0	0	0	T	30790956	C	T	30790956	3	4	365	1	0	0	0	0	1	0	0	0	8730	797	28	4	674	4	LCLAT1	2	30790956	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08		30790956	212408417	9	71162											
MOGS	7841	broad.mit.edu	37	chr2	74689540	74689540	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggagggatcccaccgctgaAccaccagctggtgaaagcct	10	5	13	13	1	0	2	0	2	0	0	1	4	1	4	5	3	3	2	5	3	2	0			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr2:74689540A>G	ENST00000233616.4	-	4	1538	c.1376T>C	c.(1375-1377)gTt>gCt	p.V459A	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.V353A	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	459					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CCACCGCTGAACCACCAGCTG	0.597													6	34					0	0	0	0	G	74689540	A	G	74689540	3	3	365	1	0	0	0	0	1	0	0	0	9767	43	2	5	1141	5	MOGS	2	74689540	Missense_Mutation	SNP	A	TCGA-D6-6517-01A-11D-1870-08	43898584	74689540	168509833	10	71163											
TGOLN2	10618	broad.mit.edu	37	chr2	85554626	85554627	+	In_Frame_Ins	INS	-	-	GGT																															ttgttgggggtgtcttctggINSggtctgcgcctccgcactcg																								rs76078295		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr2:85554626_85554627insGGT	ENST00000377386.3	-	2	690_691	c.228_229insACC	c.(226-231)accaga>acACCcaga	p.76_77TR>TPR	TGOLN2_ENST00000409232.3_In_Frame_Ins_p.76_77TR>TPR|TGOLN2_ENST00000444342.2_In_Frame_Ins_p.76_77TR>TPR|TGOLN2_ENST00000409015.1_In_Frame_Ins_p.76_77TR>TPR|TGOLN2_ENST00000398263.2_In_Frame_Ins_p.76_77TR>TPR|TGOLN2_ENST00000282120.2_Intron			O43493	TGON2_HUMAN	trans-golgi network protein 2	76	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										GTGTCTTCTGGGGTCTGCGCCT	0.599													33	299	---	---	---	---					GGT	85554627	-	GGT	85554626	7	5	365	1	0	1	1	0	0	0	0	0	15930	1232	43	0	1096	0	TGOLN2	2	85554626	In_Frame_Ins	INS	-	TCGA-D6-6517-01A-11D-1870-08	10865086	85554626	157644747	11	71164											
REEP1	65055	broad.mit.edu	37	chr2	86459838	86459838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaccccggtggtggggggcCcgagggagcaggggcgccgt	5	3	22	11	4	0	1	0	0	0	1	0	3	0	2	4	8	1	1	4	8	0	0			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr2:86459838C>T	ENST00000165698.5	-	6	648	c.505G>A	c.(505-507)Ggc>Agc	p.G169S	REEP1_ENST00000541910.1_Silent_p.R90R|REEP1_ENST00000540790.1_Missense_Mutation_p.G148S|REEP1_ENST00000535845.1_Missense_Mutation_p.G142S|REEP1_ENST00000538924.1_Missense_Mutation_p.G176S	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	169					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGTGGGGGGCCCGAGGGAGCA	0.647													9	25					0	0	0	0	T	86459838	C	T	86459838	3	4	365	1	0	0	0	0	1	0	0	0	13286	623	22	4	169	4	REEP1	2	86459838	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08	905212	86459838	156739535	12	71165											
WIPF1	7456	broad.mit.edu	37	chr2	175437112	175437112	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggccacttgggggtgaaaAgggtttcgcagatgtggatc	8	10	17	6	1	0	2	0	1	0	1	2	3	0	3	1	5	0	2	1	5	2	2			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr2:175437112A>G	ENST00000392547.2	-	5	520	c.421T>C	c.(421-423)Ttt>Ctt	p.F141L	WIPF1_ENST00000392546.2_Missense_Mutation_p.F141L|WIPF1_ENST00000409415.3_Missense_Mutation_p.F141L|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.F141L|WIPF1_ENST00000409891.1_Missense_Mutation_p.F141L|WIPF1_ENST00000272746.5_Missense_Mutation_p.F141L|AC018890.6_ENST00000412835.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	141					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGGGGTGAAAAGGGTTTCGCA	0.562													3	51					0	0	0	0	G	175437112	A	G	175437112	3	3	365	1	0	0	0	0	1	0	0	0	17463	72	3	5	1106	5	WIPF1	2	175437112	Missense_Mutation	SNP	A	TCGA-D6-6517-01A-11D-1870-08	88977274	175437112	67762261	13	71166											
ERBB4	2066	broad.mit.edu	37	chr2	212426697	212426697	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtgctcgtggacataCtccaacaggcagccatgggg	8	9	12	12	1	0	0	0	0	0	0	3	1	2	1	3	4	4	2	3	4	2	2			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr2:212426697C>G	ENST00000342788.4	-	20	2728	c.2418G>C	c.(2416-2418)gaG>gaC	p.E806D	ERBB4_ENST00000436443.1_Missense_Mutation_p.E806D|ERBB4_ENST00000402597.1_Missense_Mutation_p.E796D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	806	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CGTGGACATACTCCAACAGGC	0.483										TSP Lung(8;0.080)			27	107					0	0	0	0	G	212426697	C	G	212426697	3	3	365	1	0	0	0	0	1	0	0	0	5247	564	20	4	1544	4	ERBB4	2	212426697	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08	36989585	212426697	30772676	14	71167											
STAB1	23166	broad.mit.edu	37	chr3	52557481	52557481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggagctgcatgcctccaaCgccaccctcctaagtgccaa	9	8	8	16	1	0	0	0	0	0	0	2	1	2	1	6	1	5	2	6	1	3	2			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr3:52557481C>A	ENST00000321725.6	+	65	7255	c.7179C>A	c.(7177-7179)aaC>aaA	p.N2393K		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2393	FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATGCCTCCAACGCCACCCTCC	0.617													9	21					7.48243e-07	8.99573e-07	1	0	A	52557481	C	A	52557481	3	1	365	1	0	0	0	0	1	0	0	0	15327	535	19	3	7437	3	STAB1	3	52557481	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08		52557481	145464949	15	71168											
GTF2E1	2960	broad.mit.edu	37	chr3	120469672	120469672	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaccactcgccataactaCtacttcatcaattatcgtac	15	11	2	13	2	2	0	2	0	0	0	4	0	2	0	2	0	5	1	2	0	8	6			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr3:120469672C>G	ENST00000283875.5	+	2	366	c.273C>G	c.(271-273)taC>taG	p.Y91*		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	91	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GCCATAACTACTACTTCATCA	0.398													9	38					0	0	0	0	G	120469672	C	G	120469672	4	3	365	1	0	0	0	0	0	1	0	0	6906	576	20	4	275	4	GTF2E1	3	120469672	Nonsense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08	67912191	120469672	77552758	16	71169											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	99					0	0	0	0	A	178936082	G	A	178936082	3	1	365	1	0	0	0	0	1	0	0	0	11985	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08	58466410	178936082	19086348	17	71170											
MEPE	56955	broad.mit.edu	37	chr4	88755893	88755893	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttttctgtgtgggactactCcttttcagtgtgacctgggc	4	16	12	9	0	2	1	1	1	1	0	3	2	3	2	2	2	1	1	2	2	1	5			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr4:88755893C>T	ENST00000395102.4	+	2	137	c.27C>T	c.(25-27)ctC>ctT	p.L9L	MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Silent_p.L9L|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000424957.3_Silent_p.L9L|MEPE_ENST00000511670.1_Silent_p.L9L|MEPE_ENST00000497649.2_5'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	9					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TGGGACTACTCCTTTTCAGTG	0.368													17	76					0	0	0	0	T	88755893	C	T	88755893	2	4	365	1	0	0	0	0	0	0	0	1	9547	842	30	2		2	MEPE	4	88755893	Silent	SNP	C	TCGA-D6-6517-01A-11D-1870-08		88755893	102398383	18	71171											
PCDH10	57575	broad.mit.edu	37	chr4	134072815	134072815	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctatcctcgagtgccagaTccagggcatgagcgtcttca	8	10	10	13	2	3	2	1	1	2	1	6	3	5	2	3	1	2	1	3	1	1	2			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr4:134072815T>C	ENST00000264360.4	+	1	2346	c.1520T>C	c.(1519-1521)aTc>aCc	p.I507T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	507	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGTGCCAGATCCAGGGCATG	0.577													22	71					0	0	0	0	C	134072815	T	C	134072815	3	2	365	1	0	0	0	0	1	0	0	0	11578	1435	50	5	1522	5	PCDH10	4	134072815	Missense_Mutation	SNP	T	TCGA-D6-6517-01A-11D-1870-08	45316922	134072815	57081461	19	71172											
SNX25	83891	broad.mit.edu	37	chr4	186283809	186283809	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaaaatgcccgccacggtAtaataaaaatattcaatgca	18	8	6	9	2	1	0	1	0	0	0	1	0	1	0	2	1	3	3	2	1	9	5			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr4:186283809A>G	ENST00000504273.1	+	18	2680	c.2386A>G	c.(2386-2388)Ata>Gta	p.I796V	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.I796V			Q9H3E2	SNX25_HUMAN	sorting nexin 25	796					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CCGCCACGGTATAATAAAAAT	0.388													58	194					0	0	0	0	G	186283809	A	G	186283809	3	3	365	1	0	0	0	0	1	0	0	0	14984	449	16	5	2452	5	SNX25	4	186283809	Missense_Mutation	SNP	A	TCGA-D6-6517-01A-11D-1870-08	52210994	186283809	4870467	20	71173											
TAS2R1	50834	broad.mit.edu	37	chr5	9629960	9629960	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcacattaacgtagaagAtgaacaactgcagaaaaatt	20	8	6	7	1	1	4	1	1	0	3	1	4	1	4	0	0	4	2	0	0	8	3			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr5:9629960A>G	ENST00000382492.2	-	1	503	c.185T>C	c.(184-186)aTc>aCc	p.I62T	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	62					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AACGTAGAAGATGAACAACTG	0.368													22	28					0	0	0	0	G	9629960	A	G	9629960	3	3	365	1	0	0	0	0	1	0	0	0	15656	333	12	5	718	5	TAS2R1	5	9629960	Missense_Mutation	SNP	A	TCGA-D6-6517-01A-11D-1870-08		9629960	171285300	21	71174											
DUSP22	56940	broad.mit.edu	37	chr6	348863	348863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaatataaggagcaagggcGcacagagccccagcccggcg	13	3	13	12	3	0	1	0	0	0	1	0	2	0	2	3	3	3	2	3	3	5	3			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr6:348863G>T	ENST00000604971.1	+	4	1334	c.221G>T	c.(220-222)cGc>cTc	p.R74L	DUSP22_ENST00000603453.1_Missense_Mutation_p.R74L|DUSP22_ENST00000605315.1_Missense_Mutation_p.R74L|DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000419235.2_Missense_Mutation_p.R177L|DUSP22_ENST00000605035.1_3'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	0	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GAGCAAGGGCGCACAGAGCCC	0.552													3	31					0.004672	0.00510106	1	0	T	348863	G	T	348863	3	4	365	1	0	0	0	0	1	0	0	0	4857	1102	38	3		3	DUSP22	6	348863	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08		348863	170766204	22	71175											
HIST1H2AG	8969	broad.mit.edu	37	chr6	27100994	27100994	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgggtcggggccggcgcGccggtgtatctggcagcggt	3	6	21	11	7	1	0	0	0	1	0	2	1	1	0	2	7	2	2	2	7	1	1			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr6:27100994G>T	ENST00000359193.2	+	1	163	c.144G>T	c.(142-144)gcG>gcT	p.A48A		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	48					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						GGGCCGGCGCGCCGGTGTATC	0.682													14	58					9.31168e-06	1.08299e-05	1	0	T	27100994	G	T	27100994	2	4	365	1	0	0	0	0	0	0	0	1	7183	1074	38	3		3	HIST1H2AG	6	27100994	Silent	SNP	G	TCGA-D6-6517-01A-11D-1870-08	26752131	27100994	144014073	23	71176											
OR12D2	26529	broad.mit.edu	37	chr6	29365111	29365111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggccccttctttctgaCacttctctcctatttctaca	6	16	4	15	0	4	1	0	1	4	0	6	1	5	1	3	1	1	0	3	1	2	6			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr6:29365111C>T	ENST00000383555.2	+	1	696	c.635C>T	c.(634-636)aCa>aTa	p.T212I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTCTTTCTGACACTTCTCTCC	0.468													22	147					0	0	0	0	T	29365111	C	T	29365111	3	4	365	1	0	0	0	0	1	0	0	0	11002	478	17	4	637	4	OR12D2	6	29365111	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08	2264117	29365111	141749956	24	71177											
VPS52	6293	broad.mit.edu	37	chr6	33234453	33234453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaattgtctaggagggCgtagtgctggctgcggaaga	9	8	18	6	2	1	1	0	0	1	1	1	4	1	4	0	5	2	4	0	5	4	3	rs146611103		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr6:33234453C>T	ENST00000445902.2	-	12	1380	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.A263T|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	388					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TCTAGGAGGGCGTAGTGCTGG	0.522													7	51					0	0	0	0	T	33234453	C	T	33234453	3	4	365	1	0	0	0	0	1	0	0	0	17310	768	27	1	1045	1	VPS52	6	33234453	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08	3869342	33234453	137880614	25	71178											
SLC2A12	154091	broad.mit.edu	37	chr6	134349644	134349644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcagtgtggcttaatccaGcatttagcaaggatgctgag	11	12	11	7	0	1	1	1	1	0	0	2	2	2	2	1	2	3	4	1	2	3	4			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr6:134349644G>A	ENST00000275230.5	-	2	1474	c.1319C>T	c.(1318-1320)gCt>gTt	p.A440V		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	440						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GCTTAATCCAGCATTTAGCAA	0.478													21	73					0	0	0	0	A	134349644	G	A	134349644	3	1	365	1	0	0	0	0	1	0	0	0	14629	971	34	4	550	4	SLC2A12	6	134349644	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08	101115191	134349644	36765423	26	71179											
LATS1	9113	broad.mit.edu	37	chr6	150001304	150001304	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaatgaataatatagaCgaactacccattcattgtca	15	12	6	8	1	2	2	2	1	0	1	2	4	2	3	1	1	2	0	1	1	7	7			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr6:150001304C>A	ENST00000543571.1	-	5	2847	c.2300G>T	c.(2299-2301)cGt>cTt	p.R767L	LATS1_ENST00000253339.5_Missense_Mutation_p.R767L|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	767	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATAATATAGACGAACTACCCA	0.373													22	58					3.7963e-18	4.72331e-18	1	0	A	150001304	C	A	150001304	3	1	365	1	0	0	0	0	1	0	0	0	8699	536	19	3	1108	3	LATS1	6	150001304	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08	15651660	150001304	21113763	27	71180											
GPR22	2845	broad.mit.edu	37	chr7	107114861	107114861	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatttgctgtttccatgAggcttgtgtatcttttgcaa	6	19	8	8	0	2	1	1	1	2	0	4	1	3	1	1	1	2	5	1	1	2	6			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr7:107114861A>G	ENST00000304402.4	+	3	1699	c.356A>G	c.(355-357)gAg>gGg	p.E119G	COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	119						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TGTTTCCATGAGGCTTGTGTA	0.388													28	81					0	0	0	0	G	107114861	A	G	107114861	3	3	365	1	0	0	0	0	1	0	0	0	6731	304	11	5	358	5	GPR22	7	107114861	Missense_Mutation	SNP	A	TCGA-D6-6517-01A-11D-1870-08		107114861	52023802	28	71181											
GRM8	2918	broad.mit.edu	37	chr7	126746588	126746588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaaggcctccacaccgCtctcaccatagttcccctca	8	8	8	17	1	2	1	2	1	1	0	5	1	4	1	6	2	0	2	6	2	2	2			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr7:126746588C>T	ENST00000339582.2	-	3	1497	c.689G>A	c.(688-690)aGc>aAc	p.S230N	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.S230N|GRM8_ENST00000405249.1_Missense_Mutation_p.S230N|GRM8_ENST00000444921.2_Missense_Mutation_p.S230N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	230					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTCCACACCGCTCTCACCATA	0.507										HNSCC(24;0.065)			10	35					0	0	0	0	T	126746588	C	T	126746588	3	4	365	1	0	0	0	0	1	0	0	0	6853	797	28	4	2123	4	GRM8	7	126746588	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08	19631727	126746588	32392075	29	71182											
CSMD1	64478	broad.mit.edu	37	chr8	3351179	3351179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgtctcccaccttccCagcatcaccaaccgtcaggg	7	9	8	17	1	4	0	2	0	2	0	6	0	5	0	5	2	2	1	5	2	1	1			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr8:3351179C>T	ENST00000520002.1	-	12	1972	c.1417G>A	c.(1417-1419)Ggg>Agg	p.G473R	CSMD1_ENST00000539096.1_Missense_Mutation_p.G472R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G472R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G473R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G473R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G473R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G472R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	473	CUB 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCACCTTCCCAGCATCACCA	0.507													4	9					0	0	0	0	T	3351179	C	T	3351179	3	4	365	1	0	0	0	0	1	0	0	0	3976	594	21	4	9333	4	CSMD1	8	3351179	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08		3351179	143012843	30	71183											
TEX15	56154	broad.mit.edu	37	chr8	30703495	30703495	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagttataagctgcaaagaTgtgtgaactcttctatgagc	12	14	9	6	0	2	3	0	2	2	1	2	3	2	3	0	0	4	3	0	0	6	5			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr8:30703495T>C	ENST00000256246.2	-	1	3113	c.3039A>G	c.(3037-3039)acA>acG	p.T1013T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1013										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTGCAAAGATGTGTGAACTC	0.343													42	98					0	0	0	0	C	30703495	T	C	30703495	2	2	365	1	0	0	0	0	0	0	0	1	15873	1451	51	5		5	TEX15	8	30703495	Silent	SNP	T	TCGA-D6-6517-01A-11D-1870-08	27352316	30703495	115660527	31	71184											
IDO1	3620	broad.mit.edu	37	chr8	39785691	39785691	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaactgagaaatccctttTgaaggaaggttaatgtaacc	15	11	8	7	0	0	2	0	2	0	1	1	4	1	3	2	2	3	2	2	2	7	5			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr8:39785691T>G	ENST00000518237.1	+	10	1838	c.1199T>G	c.(1198-1200)tTg>tGg	p.L400W	IDO1_ENST00000522495.1_Missense_Mutation_p.L400W|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	400					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	AAATCCCTTTTGAAGGAAGGT	0.398													4	15					0	0	0	0	G	39785691	T	G	39785691	3	3	365	1	0	0	0	0	1	0	0	0	7554	1821	63	5	1237	5	IDO1	8	39785691	Missense_Mutation	SNP	T	TCGA-D6-6517-01A-11D-1870-08	9082196	39785691	106578331	32	71185											
SGK3	23678	broad.mit.edu	37	chr8	67771691	67771691	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgacacagcatttacagaaGaaacagttccatattctgtg	14	12	7	8	0	1	3	0	1	1	2	2	3	2	3	1	0	3	2	1	0	4	6			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr8:67771691G>C	ENST00000396596.1	+	17	1580	c.1366G>C	c.(1366-1368)Gaa>Caa	p.E456Q	SGK3_ENST00000522398.1_Missense_Mutation_p.E456Q|SGK3_ENST00000520976.1_Missense_Mutation_p.E424Q|SGK3_ENST00000345714.4_Missense_Mutation_p.E456Q|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.E456Q|SGK3_ENST00000521198.2_Missense_Mutation_p.E456Q	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	456	AGC-kinase C-terminal.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATTTACAGAAGAAACAGTTCC	0.363													36	72					0	0	0	0	C	67771691	G	C	67771691	3	2	365	1	0	0	0	0	1	0	0	0	14299	943	33	2	1428	2	SGK3	8	67771691	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08	27986000	67771691	78592331	33	71186											
ABRA	137735	broad.mit.edu	37	chr8	107782152	107782152	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagctttgtccatctccAtgtccttctggcaggcgggg	4	13	12	12	1	3	1	0	1	3	0	6	1	5	1	3	4	1	2	3	4	0	2			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr8:107782152A>G	ENST00000311955.3	-	1	321	c.267T>C	c.(265-267)caT>caC	p.H89H		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	89					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTCCATCTCCATGTCCTTCTG	0.532													13	129					0	0	0	0	G	107782152	A	G	107782152	2	3	365	1	0	0	0	0	0	0	0	1	100	214	8	5		5	ABRA	8	107782152	Silent	SNP	A	TCGA-D6-6517-01A-11D-1870-08	40010461	107782152	38581870	34	71187											
PPP1R16A	84988	broad.mit.edu	37	chr8	145724384	145724384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgacagtgagtgctggaCgcctctgcatgctgcggcca	6	9	14	12	2	1	2	0	2	1	0	1	3	1	3	2	2	4	3	2	2	0	0			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr8:145724384C>T	ENST00000292539.4	+	4	1333	c.416C>T	c.(415-417)aCg>aTg	p.T139M	CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.T139M|CTD-2517M22.14_ENST00000532766.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	139						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GAGTGCTGGACGCCTCTGCAT	0.622													10	49					0	0	0	0	T	145724384	C	T	145724384	3	4	365	1	0	0	0	0	1	0	0	0	12441	536	19	1	426	1	PPP1R16A	8	145724384	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08	37942232	145724384	639638	35	71188											
DDX58	23586	broad.mit.edu	37	chr9	32488812	32488812	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcgcaaaaaagacaactttCcccttttgtccttgtgggaa	11	13	7	10	1	0	1	0	0	0	1	3	2	2	2	3	1	1	1	3	1	5	5			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr9:32488812C>T	ENST00000379882.1	-	6	895	c.738G>A	c.(736-738)ggG>ggA	p.G246G	DDX58_ENST00000379883.2_Silent_p.G291G|DDX58_ENST00000542096.1_Silent_p.G220G|DDX58_ENST00000545044.1_Silent_p.G88G|DDX58_ENST00000379868.1_Silent_p.G88G			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	291					detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		AGACAACTTTCCCCTTTTGTC	0.338													10	29					0	0	0	0	T	32488812	C	T	32488812	2	4	365	1	0	0	0	0	0	0	0	1	4407	842	30	2		2	DDX58	9	32488812	Silent	SNP	C	TCGA-D6-6517-01A-11D-1870-08		32488812	108724619	36	71189											
PCSK5	5125	broad.mit.edu	37	chr9	78969062	78969062	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgctgcacatggacgacagCcactgcctccactgctgcaa	9	7	10	15	1	0	0	0	0	0	0	1	2	1	1	3	1	6	4	3	1	1	0			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr9:78969062C>T	ENST00000545128.1	+	36	5638	c.5100C>T	c.(5098-5100)agC>agT	p.S1700S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	765					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGGACGACAGCCACTGCCTCC	0.602													3	10					0	0	0	0	T	78969062	C	T	78969062	2	4	365	1	0	0	0	0	0	0	0	1	11674	754	26	4		4	PCSK5	9	78969062	Silent	SNP	C	TCGA-D6-6517-01A-11D-1870-08	46480250	78969062	62244369	37	71190											
CAMK1D	57118	broad.mit.edu	37	chr10	12870837	12870837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggagttggagccgagcGgagacccaggcccaccactg	9	4	14	14	2	1	1	1	0	0	1	1	5	1	3	4	4	2	1	4	4	0	1			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr10:12870837G>A	ENST00000378847.3	+	11	1446	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q		NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	370						calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GGAGCCGAGCGGAGACCCAGG	0.642													7	26					0	0	0	0	A	12870837	G	A	12870837	3	1	365	1	0	0	0	0	1	0	0	0	2622	1116	39	1	1186	1	CAMK1D	10	12870837	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08		12870837	122663910	38	71191											
GPRIN2	9721	broad.mit.edu	37	chr10	46999772	46999772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgctgtgcccacctttggGgtcccgctgggttagtccca	4	12	12	13	1	0	0	0	0	0	0	2	0	2	0	4	3	2	3	4	3	1	3	rs148764984		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr10:46999772G>A	ENST00000374314.4	+	1	1847	c.892G>A	c.(892-894)Ggt>Agt	p.G298S	GPRIN2_ENST00000374317.1_Missense_Mutation_p.G298S			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	298										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCACCTTTGGGGTCCCGCTGG	0.612													3	64					0	0	0	0	A	46999772	G	A	46999772	3	1	365	1	0	0	0	0	1	0	0	0	6780	1232	43	4	894	4	GPRIN2	10	46999772	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08	34128935	46999772	88534975	39	71192											
SLC18A3	6572	broad.mit.edu	37	chr10	50819421	50819421	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagccggagcgcagtcGtgcactgggcgtggcgctgg	5	5	21	10	5	0	0	0	0	0	0	1	3	0	3	1	6	3	3	1	6	0	0			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr10:50819421G>C	ENST00000374115.3	+	1	1075	c.635G>C	c.(634-636)cGt>cCt	p.R212P	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	212					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GAGCGCAGTCGTGCACTGGGC	0.672													4	13					0	0	0	0	C	50819421	G	C	50819421	3	2	365	1	0	0	0	0	1	0	0	0	14515	1145	40	3	637	3	SLC18A3	10	50819421	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08	3819649	50819421	84715326	40	71193											
TACR2	6865	broad.mit.edu	37	chr10	71175838	71175838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcattgaaggcagccatgCagaggtcagccagcgccaga	11	4	14	12	2	1	3	1	1	0	2	1	3	1	3	3	3	4	3	3	3	1	1			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr10:71175838C>T	ENST00000373306.4	-	1	785	c.242G>A	c.(241-243)tGc>tAc	p.C81Y		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	81					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GGCAGCCATGCAGAGGTCAGC	0.547													11	16					0	0	0	0	T	71175838	C	T	71175838	3	4	365	1	0	0	0	0	1	0	0	0	15597	710	25	4	974	4	TACR2	10	71175838	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08	20356417	71175838	64358909	41	71194											
PDCD11	22984	broad.mit.edu	37	chr10	105201732	105201732	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaagccacaccaagccacGgtgctgtattttgcagggca	11	7	12	11	1	0	1	0	0	0	1	0	2	0	1	3	2	4	4	3	2	3	3			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr10:105201732G>A	ENST00000369797.3	+	31	4801	c.4707_splice	c.e31+1	p.T1569_splice		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1569					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACCAAGCCACGGTGCTGTATT	0.572													5	35					0	0	0	0	A	105201732	G	A	105201732	5	1	365	1	0	0	0	0	0	0	1	0	11688	1130	39	1	4825	1	PDCD11	10	105201732	Splice_Site	SNP	G	TCGA-D6-6517-01A-11D-1870-08	34025894	105201732	30333015	42	71195											
OR5D18	219438	broad.mit.edu	37	chr11	55587567	55587567	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatcctatgcctggggagtCtcatgttccttggaactgac	7	12	12	10	0	1	1	1	1	1	0	4	4	3	4	3	4	2	1	3	4	2	3			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr11:55587567C>G	ENST00000333976.4	+	1	482	c.462C>G	c.(460-462)gtC>gtG	p.V154V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCTGGGGAGTCTCATGTTCCT	0.478													34	138					0	0	0	0	G	55587567	C	G	55587567	2	3	365	1	0	0	0	0	0	0	0	1	11228	900	32	2		2	OR5D18	11	55587567	Silent	SNP	C	TCGA-D6-6517-01A-11D-1870-08		55587567	79418949	43	71196											
OR5AK2	390181	broad.mit.edu	37	chr11	56756943	56756943	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgttccccctattctTgctctttcatgctccaatgt	5	18	6	12	0	3	1	1	1	2	0	5	1	5	1	3	0	2	3	3	0	2	5			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr11:56756943T>G	ENST00000326855.2	+	1	597	c.555T>G	c.(553-555)ctT>ctG	p.L185L		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CCCCTATTCTTGCTCTTTCAT	0.403													48	221					0	0	0	0	G	56756943	T	G	56756943	2	3	365	1	0	0	0	0	0	0	0	1	11213	1799	63	5		5	OR5AK2	11	56756943	Silent	SNP	T	TCGA-D6-6517-01A-11D-1870-08	1169376	56756943	78249573	44	71197											
PICALM	8301	broad.mit.edu	37	chr11	85779753	85779753	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggccttgcatactgtctTggatacggcagagccggtga	7	10	14	10	3	1	2	0	1	1	1	1	3	1	3	2	4	4	2	2	4	2	4			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr11:85779753T>G	ENST00000526033.1	-	1	386	c.70A>C	c.(70-72)Aag>Cag	p.K24Q	PICALM_ENST00000393346.3_Missense_Mutation_p.K24Q|PICALM_ENST00000356360.5_Missense_Mutation_p.K24Q|PICALM_ENST00000532317.1_Missense_Mutation_p.K24Q|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000528411.1_5'UTR	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	24	ENTH.				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CATACTGTCTTGGATACGGCA	0.662			T	"MLLT10, MLL"	"TALL, AML, "								10	16					0	0	0	0	G	85779753	T	G	85779753	3	3	365	1	0	0	0	0	1	0	0	0	11952	1821	63	5	1996	5	PICALM	11	85779753	Missense_Mutation	SNP	T	TCGA-D6-6517-01A-11D-1870-08	29022810	85779753	49226763	45	71198											
FOXJ2	55810	broad.mit.edu	37	chr12	8200482	8200482	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctccccacctgcaggcttTtcttctctcctgggggacat	4	13	8	16	0	2	0	0	0	2	0	6	1	5	1	5	3	1	2	5	3	0	3			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr12:8200482T>A	ENST00000162391.3	+	7	1967	c.822T>A	c.(820-822)ttT>ttA	p.F274L	FOXJ2_ENST00000428177.2_Missense_Mutation_p.F274L	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	274					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CTGCAGGCTTTTCTTCTCTCC	0.532													18	67					0	0	0	0	A	8200482	T	A	8200482	3	1	365	1	0	0	0	0	1	0	0	0	6059	1838	64	5	844	5	FOXJ2	12	8200482	Missense_Mutation	SNP	T	TCGA-D6-6517-01A-11D-1870-08		8200482	125651413	46	71199											
ATF1	466	broad.mit.edu	37	chr12	51173954	51173954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattcccacaagagtaccaCgtcagagacagcacctcaac	15	5	7	14	1	2	3	2	0	0	3	3	4	3	3	3	0	3	2	3	0	3	2			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr12:51173954C>T	ENST00000262053.3	+	2	48	c.26C>T	c.(25-27)aCg>aTg	p.T9M	ATF1_ENST00000539132.1_5'UTR	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	9					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						AAGAGTACCACGTCAGAGACA	0.408			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "								68	177					0	0	0	0	T	51173954	C	T	51173954	3	4	365	1	0	0	0	0	1	0	0	0	1083	536	19	1	28	1	ATF1	12	51173954	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08	42973472	51173954	82677941	47	71200											
RIC8B	55188	broad.mit.edu	37	chr12	107254159	107254159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagaggatgaggacacaGacactgaagaatacaaaaat	20	5	9	7	0	1	5	1	2	0	3	1	7	1	7	0	2	1	0	0	2	5	1			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr12:107254159G>T	ENST00000392837.4	+	8	1571	c.1420G>T	c.(1420-1422)Gac>Tac	p.D474Y	RIC8B_ENST00000549643.1_5'UTR|RIC8B_ENST00000355478.2_Missense_Mutation_p.D434Y|RIC8B_ENST00000392839.2_Missense_Mutation_p.D474Y			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	474					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TGAGGACACAGACACTGAAGA	0.438													6	31					3.59834e-05	4.05286e-05	1	0	T	107254159	G	T	107254159	3	4	365	1	0	0	0	0	1	0	0	0	13439	942	33	2	1450	2	RIC8B	12	107254159	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08	56080205	107254159	26597736	48	71201											
ATP2A2	488	broad.mit.edu	37	chr12	110783837	110783837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accagtccttgctgaggatgCccccctgggagaacatctgg	8	8	12	13	0	1	2	0	1	1	1	2	4	2	3	5	3	3	1	5	3	1	1			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr12:110783837C>T	ENST00000395494.2	+	18	3255	c.2692C>T	c.(2692-2694)Ccc>Tcc	p.P898S	ATP2A2_ENST00000308664.6_Missense_Mutation_p.P925S|ATP2A2_ENST00000539276.2_Missense_Mutation_p.P925S			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	925					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GCTGAGGATGCCCCCCTGGGA	0.577													4	83					0	0	0	0	T	110783837	C	T	110783837	3	4	365	1	0	0	0	0	1	0	0	0	1141	739	26	4	2847	4	ATP2A2	12	110783837	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08	3529678	110783837	23068058	49	71202											
C12orf52	84934	broad.mit.edu	37	chr12	113624689	113624689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagcccagcaggcacccgGcctaccccaccggacttcga	8	3	11	19	3	0	0	0	0	0	0	1	2	0	1	6	4	3	3	6	4	1	2			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr12:113624689G>A	ENST00000548278.1	+	3	830	c.138G>A	c.(136-138)cgG>cgA	p.R46R	C12orf52_ENST00000549621.1_Silent_p.R46R|C12orf52_ENST00000552495.1_Silent_p.R70R|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	46					negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						CAGGCACCCGGCCTACCCCAC	0.642													7	31					0	0	0	0	A	113624689	G	A	113624689	2	1	365	1	0	0	0	0	0	0	0	1	1709	1190	42	4		4	C12orf52	12	113624689	Silent	SNP	G	TCGA-D6-6517-01A-11D-1870-08	2840852	113624689	20227206	50	71203											
RXFP2	122042	broad.mit.edu	37	chr13	32371542	32371542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaatcctttccctcttccGggtggaaataccaggtcagt	10	12	8	11	1	2	0	1	0	1	0	5	1	5	1	4	3	1	0	4	3	4	4			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr13:32371542G>A	ENST00000298386.2	+	17	2062	c.1991G>A	c.(1990-1992)cGg>cAg	p.R664Q	RXFP2_ENST00000380314.1_Missense_Mutation_p.R640Q	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	664						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCCCTCTTCCGGGTGGAAATA	0.423													3	88					0	0	0	0	A	32371542	G	A	32371542	3	1	365	1	0	0	0	0	1	0	0	0	13845	1116	39	1	2057	1	RXFP2	13	32371542	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08		32371542	82798336	51	71204											
FAM155A	728215	broad.mit.edu	37	chr13	107863084	107863084	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaaatactgggaacagAgccaggctttgtagacaatc	14	9	9	9	0	1	2	1	0	0	2	2	3	1	3	1	2	3	2	1	2	6	4			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr13:107863084A>T	ENST00000375915.2	-	2	1073	c.935T>A	c.(934-936)cTc>cAc	p.L312H		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	312						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTGGGAACAGAGCCAGGCTTT	0.413											OREG0022506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	41					0	0	0	0	T	107863084	A	T	107863084	3	4	365	1	0	0	0	0	1	0	0	0	5506	304	11	5	449	5	FAM155A	13	107863084	Missense_Mutation	SNP	A	TCGA-D6-6517-01A-11D-1870-08	75491542	107863084	7306794	52	71205											
COL4A2	1284	broad.mit.edu	37	chr13	111117869	111117869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcccggcctcaaaggccaaCgtggtttccctggagacgcc	7	8	11	15	3	1	1	1	0	0	1	3	2	3	1	5	4	1	1	5	4	2	2			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr13:111117869C>T	ENST00000360467.5	+	25	2200	c.1894C>T	c.(1894-1896)Cgt>Tgt	p.R632C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	632	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAAAGGCCAACGTGGTTTCCC	0.632													9	34					0	0	0	0	T	111117869	C	T	111117869	3	4	365	1	0	0	0	0	1	0	0	0	3720	536	19	1	1988	1	COL4A2	13	111117869	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08	3254785	111117869	4052009	53	71206											
ZBTB25	7597	broad.mit.edu	37	chr14	64954345	64954345	+	Frame_Shift_Del	DEL	A	A	-																															acatctctcctgcttgatggAaactgggggcttctggtgct																										TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr14:64954345delA	ENST00000394715.1	-	6	1305	c.604delT	c.(604-606)ccfs	p.S202fs	ZBTB25_ENST00000261683.2_Frame_Shift_Del_p.S202fs|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	202						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TGCTTGATGGAAACTGGGGGC	0.567													61	221	---	---	---	---					-	64954345	A	-	64954345	7	5	365	1	0	1	0	1	0	0	0	0	17627	246	9	0	707	0	ZBTB25	14	64954345	Frame_Shift_Del	DEL	A	TCGA-D6-6517-01A-11D-1870-08		64954345	42395195	54	71207											
ACYP1	97	broad.mit.edu	37	chr14	75520263	75520263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttcaagccattcctgcaTatgacgcaccttggagatgg	9	12	10	10	1	1	2	1	1	0	1	2	3	2	2	3	2	2	3	3	2	2	4			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr14:75520263T>C	ENST00000555463.1	-	3	465	c.274A>G	c.(274-276)Atg>Gtg	p.M92V	ACYP1_ENST00000357971.3_3'UTR|ACYP1_ENST00000555694.1_Missense_Mutation_p.M62V|ACYP1_ENST00000238618.3_Missense_Mutation_p.M62V			P07311	ACYP1_HUMAN	acylphosphatase 1, erythrocyte (common) type	62	Acylphosphatase-like.				phosphate metabolic process		acylphosphatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		CATTCCTGCATATGACGCACC	0.468													49	138					0	0	0	0	C	75520263	T	C	75520263	3	2	365	1	0	0	0	0	1	0	0	0	228	1406	49	5	119	5	ACYP1	14	75520263	Missense_Mutation	SNP	T	TCGA-D6-6517-01A-11D-1870-08	10565918	75520263	31829277	55	71208											
MARK3	4140	broad.mit.edu	37	chr14	103958157	103958157	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttgcttcaacacacagtAtcagtagtgcagccacccca	12	8	7	14	0	2	0	2	0	0	0	2	0	2	0	3	0	4	5	3	0	3	4			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr14:103958157A>G	ENST00000429436.2	+	15	2140	c.1630A>G	c.(1630-1632)Atc>Gtc	p.I544V	MARK3_ENST00000553942.1_Missense_Mutation_p.I544V|MARK3_ENST00000216288.7_Missense_Mutation_p.I528V|MARK3_ENST00000440884.3_Missense_Mutation_p.I465V|MARK3_ENST00000416682.2_Missense_Mutation_p.I567V|MARK3_ENST00000335102.5_Missense_Mutation_p.I567V|MARK3_ENST00000303622.9_Missense_Mutation_p.I544V|MARK3_ENST00000561071.1_3'UTR	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	544							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AACACACAGTATCAGTAGTGC	0.488													11	45					0	0	0	0	G	103958157	A	G	103958157	3	3	365	1	0	0	0	0	1	0	0	0	9383	449	16	5	1688	5	MARK3	14	103958157	Missense_Mutation	SNP	A	TCGA-D6-6517-01A-11D-1870-08	28437894	103958157	3391383	56	71209											
FOXB1	27023	broad.mit.edu	37	chr15	60297484	60297484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctgcggcgccgcaagCgcttcaaggtgcttaagtcc	6	9	12	14	4	1	0	1	0	0	0	3	0	3	0	3	2	3	4	3	2	3	3			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr15:60297484C>A	ENST00000396057.4	+	2	801	c.322C>A	c.(322-324)Cgc>Agc	p.R108S	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	108					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						GCGCCGCAAGCGCTTCAAGGT	0.706													10	17					6.40141e-05	7.13491e-05	1	0	A	60297484	C	A	60297484	3	1	365	1	0	0	0	0	1	0	0	0	6037	768	27	3	324	3	FOXB1	15	60297484	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08		60297484	42233908	57	71210											
TLN2	83660	broad.mit.edu	37	chr15	62989996	62989996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcctgagaccttcaacGttggcagcatgccctcgcca	7	7	12	15	3	1	1	1	1	0	1	2	2	1	1	4	2	3	3	4	2	1	2			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr15:62989996G>A	ENST00000561311.1	+	14	1632	c.1402G>A	c.(1402-1404)Gtt>Att	p.V468I	TLN2_ENST00000306829.6_Missense_Mutation_p.V468I			Q9Y4G6	TLN2_HUMAN	talin 2	468					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GACCTTCAACGTTGGCAGCAT	0.667													17	25					0	0	0	0	A	62989996	G	A	62989996	3	1	365	1	0	0	0	0	1	0	0	0	16042	1145	40	1	1448	1	TLN2	15	62989996	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08	2692512	62989996	39541396	58	71211											
SLC38A7	55238	broad.mit.edu	37	chr16	58705074	58705074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtctgcagcactcgcCgccgccgctcccgccccacg	4	4	10	23	7	1	0	0	0	1	0	3	0	2	0	7	0	3	3	7	0	0	0			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr16:58705074C>A	ENST00000570101.1	-	9	1989	c.1106G>T	c.(1105-1107)cGg>cTg	p.R369L	SLC38A7_ENST00000219320.4_Missense_Mutation_p.R369L|SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000564010.1_Missense_Mutation_p.R280L|SLC38A7_ENST00000566953.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	369					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CAGCACTCGCCGCCGCCGCTC	0.667													4	24					0.00909568	0.00983068	1	0	A	58705074	C	A	58705074	3	1	365	1	0	0	0	0	1	0	0	0	14697	652	23	3	294	3	SLC38A7	16	58705074	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08		58705074	31649679	59	71212											
PELP1	27043	broad.mit.edu	37	chr17	4607440	4607440	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggtggcgtggcgcgaTgacgcaaacacaccgcgacg	9	4	15	13	7	0	1	0	1	0	0	0	3	0	1	2	3	1	1	2	3	1	0			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr17:4607440T>C	ENST00000572293.1	-	1	180	c.117A>G	c.(115-117)tcA>tcG	p.S39S	PELP1_ENST00000301396.4_5'UTR|PELP1_ENST00000269230.7_5'UTR	NM_014389.2	NP_055204.3	Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	662					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CGTGGCGCGATGACGCAAACA	0.726													4	11					0	0	0	0	C	4607440	T	C	4607440	2	2	365	1	0	0	0	0	0	0	0	1	11796	1479	51	5		5	PELP1	17	4607440	Silent	SNP	T	TCGA-D6-6517-01A-11D-1870-08		4607440	76587770	60	71213											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	48					0	0	0	0	T	7578406	C	T	7578406	3	4	365	1	0	0	0	0	1	0	0	0	16476	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08	2970966	7578406	73616804	61	71214											
PER1	5187	broad.mit.edu	37	chr17	8047139	8047139	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtggcgtgagcgcttGgctttggatcggcagtggtg	3	12	20	6	3	0	1	0	1	0	0	1	2	0	2	0	7	1	3	0	7	0	2			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr17:8047139G>A	ENST00000317276.4	-	19	2754	c.2517C>T	c.(2515-2517)gcC>gcT	p.A839A	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Silent_p.A816A	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	839					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGAGCGCTTGGCTTTGGATC	0.672			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					16	35					0	0	0	0	A	8047139	G	A	8047139	2	1	365	1	0	0	0	0	0	0	0	1	11800	1335	47	4		4	PER1	17	8047139	Silent	SNP	G	TCGA-D6-6517-01A-11D-1870-08	468733	8047139	73148071	62	71215											
HS3ST3B1	9953	broad.mit.edu	37	chr17	14205268	14205268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggccatcatcatcggcGtgaagaagggcggcacgcgg	9	4	16	12	6	2	2	2	1	0	1	3	2	2	2	1	5	0	2	1	5	2	0			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr17:14205268G>T	ENST00000360954.2	+	1	869	c.433G>T	c.(433-435)Gtg>Ttg	p.V145L		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	145					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CATCATCGGCGTGAAGAAGGG	0.667													4	19					2.56e-06	3.01011e-06	1	0	T	14205268	G	T	14205268	3	4	365	1	0	0	0	0	1	0	0	0	7416	1145	40	3	435	3	HS3ST3B1	17	14205268	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08	6158129	14205268	66989942	63	71216											
KRT31	3881	broad.mit.edu	37	chr17	39551520	39551520	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gttgtgctgggcctgcagctCgatctccagggcgttgactg	4	11	15	11	2	1	1	0	1	1	0	3	2	1	1	2	2	3	5	2	2	0	2			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr17:39551520C>G	ENST00000251645.2	-	5	905	c.853G>C	c.(853-855)Gag>Cag	p.E285Q		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	285	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCCTGCAGCTCGATCTCCAGG	0.607													14	64					0	0	0	0	G	39551520	C	G	39551520	3	3	365	1	0	0	0	0	1	0	0	0	8519	893	31	3	409	3	KRT31	17	39551520	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08	25346252	39551520	41643690	64	71217											
GJC1	10052	broad.mit.edu	37	chr17	42882699	42882699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaatccgtcgtcggccatCatgcttaggtttgggttggc	5	12	13	11	4	1	0	1	0	0	0	4	1	2	0	3	4	1	3	3	4	2	3			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr17:42882699C>A	ENST00000426548.1	-	3	756	c.487G>T	c.(487-489)Gat>Tat	p.D163Y	GJC1_ENST00000590758.1_Missense_Mutation_p.D163Y|GJC1_ENST00000330514.4_Missense_Mutation_p.D163Y|GJC1_ENST00000592524.1_Missense_Mutation_p.D163Y	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	163					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CGTCGGCCATCATGCTTAGGT	0.478													27	127					6.12954e-19	7.716e-19	1	0	A	42882699	C	A	42882699	3	1	365	1	0	0	0	0	1	0	0	0	6465	826	29	2	707	2	GJC1	17	42882699	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08	3331179	42882699	38312511	65	71218											
HELZ	9931	broad.mit.edu	37	chr17	65174905	65174905	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggtcagcagagaggggaaTttggtatctgataagaaggc	12	9	15	5	0	2	3	1	1	1	2	2	5	2	4	0	5	1	2	0	5	4	3			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr17:65174905T>C	ENST00000358691.5	-	13	1466	c.1300A>G	c.(1300-1302)Att>Gtt	p.I434V	HELZ_ENST00000580168.1_Missense_Mutation_p.I434V	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GAGAGGGGAATTTGGTATCTG	0.383													5	102					0	0	0	0	C	65174905	T	C	65174905	3	2	365	1	0	0	0	0	1	0	0	0	7099	1493	52	5	4612	5	HELZ	17	65174905	Missense_Mutation	SNP	T	TCGA-D6-6517-01A-11D-1870-08	22292206	65174905	16020305	66	71219											
MC5R	4161	broad.mit.edu	37	chr18	13826449	13826449	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggggccagctctgcgCggcagaggaccagcatgcag	7	4	16	14	3	1	1	0	0	1	1	1	2	1	2	3	4	5	4	3	4	0	0			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr18:13826449C>A	ENST00000324750.3	+	1	907	c.685C>A	c.(685-687)Cgg>Agg	p.R229R		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	229				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.R229W(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CAGCTCTGCGCGGCAGAGGAC	0.617													35	137					3.03874e-20	3.87078e-20	1	0	A	13826449	C	A	13826449	2	1	365	1	0	0	0	0	0	0	0	1	9436	759	27	3		3	MC5R	18	13826449	Silent	SNP	C	TCGA-D6-6517-01A-11D-1870-08		13826449	64250799	67	71220											
ZNF99	7652	broad.mit.edu	37	chr19	22940099	22940099	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcttcacatttgtagggTttctttccagtatgaattat	9	19	6	7	0	3	1	1	1	2	0	4	1	4	1	1	1	0	3	1	1	4	8			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr19:22940099T>G	ENST00000397104.3	-	6	2231	c.2232A>C	c.(2230-2232)aaA>aaC	p.K744N						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATTTGTAGGGTTTCTTTCCAG	0.348													12	55					0	0	0	0	G	22940099	T	G	22940099	3	3	365	1	0	0	0	0	1	0	0	0	18297	1722	60	5	888	5	ZNF99	19	22940099	Missense_Mutation	SNP	T	TCGA-D6-6517-01A-11D-1870-08		22940099	36188884	68	71221											
SIGLEC6	946	broad.mit.edu	37	chr19	52033054	52033054	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgaaatctccttcttcTgcagaccctacttgaggcag	9	11	9	12	0	3	3	0	2	3	1	4	3	3	3	2	2	2	2	2	2	2	4			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr19:52033054T>G	ENST00000346477.3	-	4	956	c.888A>C	c.(886-888)gcA>gcC	p.A296A	SIGLEC6_ENST00000343300.4_Silent_p.A312A|SIGLEC6_ENST00000436458.1_Silent_p.A260A|SIGLEC6_ENST00000425629.3_Silent_p.A312A|SIGLEC6_ENST00000391797.3_Silent_p.A301A|SIGLEC6_ENST00000359982.4_Silent_p.A323A	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	312	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CTCCTTCTTCTGCAGACCCTA	0.607													14	32					0	0	0	0	G	52033054	T	G	52033054	2	3	365	1	0	0	0	0	0	0	0	1	14400	1567	55	5		5	SIGLEC6	19	52033054	Silent	SNP	T	TCGA-D6-6517-01A-11D-1870-08	29092955	52033054	7095929	69	71222											
MCM8	84515	broad.mit.edu	37	chr20	5974238	5974238	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgagcaacaggtcaacagCgaaaagatttatttctgctc	15	10	8	8	1	2	2	1	1	1	1	3	3	2	2	0	1	5	2	0	1	6	3			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr20:5974238C>G	ENST00000378896.3	+	18	2704	c.2327C>G	c.(2326-2328)gCg>gGg	p.A776G	MCM8_ENST00000265187.4_Missense_Mutation_p.A760G|MCM8_ENST00000378883.1_Missense_Mutation_p.A729G|MCM8_ENST00000378886.2_Missense_Mutation_p.A816G	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	776					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGGTCAACAGCGAAAAGATTT	0.368													18	93					0	0	0	0	G	5974238	C	G	5974238	3	3	365	1	0	0	0	0	1	0	0	0	9462	768	27	3	2393	3	MCM8	20	5974238	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08		5974238	57051282	70	71223											
PKIG	11142	broad.mit.edu	37	chr20	43246985	43246985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaccagccccagagcagcGatgggaccacctcgtcttga	10	5	11	15	2	1	2	0	1	1	1	2	4	1	3	5	1	4	2	5	1	1	1			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr20:43246985G>T	ENST00000372889.1	+	6	796	c.211G>T	c.(211-213)Gat>Tat	p.D71Y	PKIG_ENST00000372891.3_Missense_Mutation_p.D71Y|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372894.3_Missense_Mutation_p.D71Y|PKIG_ENST00000372892.3_Missense_Mutation_p.D71Y|PKIG_ENST00000372886.1_Missense_Mutation_p.D71Y|PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000349959.3_Missense_Mutation_p.D71Y			Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	71							cAMP-dependent protein kinase inhibitor activity|protein binding			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			CCAGAGCAGCGATGGGACCAC	0.587													37	132					9.62906e-15	1.18426e-14	1	0	T	43246985	G	T	43246985	3	4	365	1	0	0	0	0	1	0	0	0	12047	1058	37	3	217	3	PKIG	20	43246985	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08	37272747	43246985	19778535	71	71224											
ARFGEF2	10564	broad.mit.edu	37	chr20	47591350	47591350	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtgcctcgtgtccattctCaagtgcatggtggagtggag	7	11	15	8	1	1	0	1	0	1	0	4	3	2	2	2	3	2	1	2	3	1	1			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr20:47591350C>T	ENST00000371917.4	+	13	1713	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	571					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGTCCATTCTCAAGTGCATGG	0.507													8	17					0	0	0	0	T	47591350	C	T	47591350	2	4	365	1	0	0	0	0	0	0	0	1	855	813	29	2		2	ARFGEF2	20	47591350	Silent	SNP	C	TCGA-D6-6517-01A-11D-1870-08	4344365	47591350	15434170	72	71225											
BAGE2	85319	broad.mit.edu	37	chr21	11039224	11039224	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggaggccttgattcttcTttggataccactgttttagg	6	18	10	7	0	2	1	0	1	2	0	2	3	2	3	2	4	1	1	2	4	2	8			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr21:11039224T>C	ENST00000470054.1	-	0	979									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGATTCTTCTTTGGATACCA	0.423													11	246					0	0	0	0	C	11039224	T	C	11039224	1	2	365	0	1	0	0	0	0	0	0	0	1296	1624	56	5		5	BAGE2	21	11039224	RNA	SNP	T	TCGA-D6-6517-01A-11D-1870-08		11039224	37090671	73	71226											
SON	6651	broad.mit.edu	37	chr21	34931551	34931551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagaaatgtaaacagatcGcacagagtaaagaagatgat	21	7	9	4	1	0	6	0	1	0	5	1	6	0	6	0	0	1	3	0	0	8	3			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr21:34931551G>A	ENST00000356577.4	+	5	6812	c.6337G>A	c.(6337-6339)Gca>Aca	p.A2113T	SON_ENST00000381692.2_Missense_Mutation_p.A141T|SON_ENST00000300278.4_Missense_Mutation_p.A2113T|SON_ENST00000290239.6_Missense_Mutation_p.A2113T	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	2113					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TAAACAGATCGCACAGAGTAA	0.308													12	42					0	0	0	0	A	34931551	G	A	34931551	3	1	365	1	0	0	0	0	1	0	0	0	15014	1087	38	1	6355	1	SON	21	34931551	Missense_Mutation	SNP	G	TCGA-D6-6517-01A-11D-1870-08	23892327	34931551	13198344	74	71227											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951241	30951241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcgggccatgcgctccCgcccgaaggcctccaccttg	4	6	11	20	5	0	0	0	0	0	0	3	1	2	0	7	2	1	1	7	2	1	1			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr22:30951241C>A	ENST00000402321.1	-	3	1288	c.971G>T	c.(970-972)cGg>cTg	p.R324L	GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R324L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R324L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R324L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R324L|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R324L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R324L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	324					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CATGCGCTCCCGCCCGAAGGC	0.711													5	10					3.59834e-05	4.05286e-05	1	0	A	30951241	C	A	30951241	3	1	365	1	0	0	0	0	1	0	0	0	6246	652	23	3	304	3	GAL3ST1	22	30951241	Missense_Mutation	SNP	C	TCGA-D6-6517-01A-11D-1870-08		30951241	20353325	75	71228											
TUBGCP6	85378	broad.mit.edu	37	chr22	50664505	50664505	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcagagcttcagcaggtTaatggtctttccgcagacgt	9	10	12	10	2	2	2	1	0	1	2	3	2	3	2	1	2	3	6	1	2	1	3			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr22:50664505T>A	ENST00000439308.2	-	9	2299	c.1807A>T	c.(1807-1809)Aac>Tac	p.N603Y	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.N603Y|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	603					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTCAGCAGGTTAATGGTCTTT	0.582													6	140					0	0	0	0	A	50664505	T	A	50664505	3	1	365	1	0	0	0	0	1	0	0	0	16866	1754	61	5	3720	5	TUBGCP6	22	50664505	Missense_Mutation	SNP	T	TCGA-D6-6517-01A-11D-1870-08	19713264	50664505	640061	76	71229											
USP9X	8239	broad.mit.edu	37	chrX	41088557	41088563	+	Frame_Shift_Del	DEL	CACAATC	CACAATC	-																															gaccgagatgggctgtttgaCacaatccagcgctctaagaa																										TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chrX:41088557_41088563delCACAATC	ENST00000324545.7	+	42	7746_7752	c.7113_7119delCACAATC	c.(7111-7119)gafs	p.DTI2371fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.DTI2371fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2371					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GGCTGTTTGACACAATCCAGCGCTCTA	0.362													5	5	---	---	---	---					-	41088563	CACAATC	-	41088557	7	5	365	1	0	1	0	1	0	0	0	0	17186	477	17	0	7275	0	USP9X	23	41088557	Frame_Shift_Del	DEL	CACAATC	TCGA-D6-6517-01A-11D-1870-08		41088557	114182003	77	71230											
MAOA	4128	broad.mit.edu	37	chrX	43590580	43590580	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaccatcctgtcactcaCgttgaccagtcaagtgacaa	12	9	7	13	1	3	3	3	3	0	0	4	3	4	3	3	0	1	1	3	0	3	1			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chrX:43590580C>T	ENST00000338702.3	+	7	861	c.738C>T	c.(736-738)caC>caT	p.H246H	MAOA_ENST00000542639.1_Silent_p.H113H|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	246					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	CTGTCACTCACGTTGACCAGT	0.453													22	14					0	0	0	0	T	43590580	C	T	43590580	2	4	365	1	0	0	0	0	0	0	0	1	9294	535	19	1		1	MAOA	23	43590580	Silent	SNP	C	TCGA-D6-6517-01A-11D-1870-08	2502023	43590580	111679980	78	71231											
BCORL1	63035	broad.mit.edu	37	chrX	129147297	129147297	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaactctgggaactggagtCcctgtggaggggaccctgcc	7	7	15	12	0	1	0	0	0	1	0	2	4	2	4	3	5	3	1	3	5	2	0			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chrX:129147297C>A	ENST00000540052.1	+	3	593	c.549C>A	c.(547-549)gtC>gtA	p.V183V	BCORL1_ENST00000359304.2_Silent_p.V183V|BCORL1_ENST00000303743.5_Silent_p.V183V|BCORL1_ENST00000218147.7_Silent_p.V183V	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	183					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GAACTGGAGTCCCTGTGGAGG	0.577													9	30					0.000978159	0.001079	1	0	A	129147297	C	A	129147297	2	1	365	1	0	0	0	0	0	0	0	1	1391	842	30	2		2	BCORL1	23	129147297	Silent	SNP	C	TCGA-D6-6517-01A-11D-1870-08	85556717	129147297	26123263	79	71232											
TAS1R2	80834	broad.mit.edu	37	chr1	19166514	19166514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggtgggactgaggcccGtggccagcatgccaattacc	7	7	16	11	1	0	1	0	1	0	0	0	2	0	2	4	5	3	1	4	5	2	1	rs149445409		TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:19166514G>A	ENST00000375371.3	-	6	2120	c.2099C>T	c.(2098-2100)aCg>aTg	p.T700M		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	700					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ACTGAGGCCCGTGGCCAGCAT	0.562													40	77					0	0	0	0	A	19166514	G	A	19166514	3	1	366	1	0	0	0	0	1	0	0	0	15654	1145	40	1	424	1	TAS1R2	1	19166514	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08		19166514	230084107	1	71233											
LPAR3	23566	broad.mit.edu	37	chr1	85331609	85331609	+	Frame_Shift_Del	DEL	G	G	-																															aaattagccaacaggtagtaGaaggggaaatgaaattttct																										TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:85331609delG	ENST00000440886.1	-	1	233	c.195delC	c.(193-195)ttfs	p.F65fs	LPAR3_ENST00000370611.3_Frame_Shift_Del_p.F65fs|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	65					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ACAGGTAGTAGAAGGGGAAAT	0.393													56	83	---	---	---	---					-	85331609	G	-	85331609	7	5	366	1	0	1	0	1	0	0	0	0	8970	933	33	0	874	0	LPAR3	1	85331609	Frame_Shift_Del	DEL	G	TCGA-D6-6823-01A-11D-1912-08	66165095	85331609	163919012	2	71234											
LPPR4	9890	broad.mit.edu	37	chr1	99771647	99771647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagaataagaatgaaagtcGaaagttgtccttgcaagtta	17	10	10	4	1	0	3	0	1	0	2	2	5	1	3	1	0	1	3	1	0	8	4			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:99771647G>A	ENST00000370185.3	+	7	1870	c.1373G>A	c.(1372-1374)cGa>cAa	p.R458Q	LPPR4_ENST00000370184.1_Missense_Mutation_p.R300Q|LPPR4_ENST00000457765.1_Missense_Mutation_p.R400Q	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		458							phosphatidate phosphatase activity	p.R458Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATGAAAGTCGAAAGTTGTCC	0.493													27	67					0	0	0	0	A	99771647	G	A	99771647	3	1	366	1	0	0	0	0	1	0	0	0	8991	1058	37	1	1399	1	LPPR4	1	99771647	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	14440038	99771647	149478974	3	71235											
CDC14A	8556	broad.mit.edu	37	chr1	100819350	100819350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgctactttaaggaatagaCcaaaaagcacagtaaatacc	18	9	6	8	0	0	1	0	0	0	1	0	2	0	2	2	1	4	3	2	1	9	7			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:100819350C>A	ENST00000370125.2	+	2	570	c.82C>A	c.(82-84)Cca>Aca	p.P28T	CDC14A_ENST00000336454.3_Missense_Mutation_p.P28T|CDC14A_ENST00000542213.1_5'UTR|CDC14A_ENST00000544534.1_Missense_Mutation_p.P28T|CDC14A_ENST00000361544.6_Missense_Mutation_p.P28T|CDC14A_ENST00000370124.3_Missense_Mutation_p.P28T			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	28	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AAGGAATAGACCAAAAAGCAC	0.358													7	23					0.000274275	0.00144945	1	0	A	100819350	C	A	100819350	3	1	366	1	0	0	0	0	1	0	0	0	3085	507	18	4	88	4	CDC14A	1	100819350	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	1047703	100819350	148431271	4	71236											
RGS2	5997	broad.mit.edu	37	chr1	192780144	192780144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcagggcttttttaaagtCggaattctgtgaagaaaata	14	14	9	4	1	2	2	1	1	1	1	3	3	2	3	0	2	0	1	0	2	7	6			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:192780144C>T	ENST00000235382.5	+	4	339	c.308C>T	c.(307-309)tCg>tTg	p.S103L		NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	103	Necessary to inhibit protein synthesis.|RGS.				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						TTTTTAAAGTCGGAATTCTGT	0.398													36	88					0	0	0	0	T	192780144	C	T	192780144	3	4	366	1	0	0	0	0	1	0	0	0	13385	893	31	1	322	1	RGS2	1	192780144	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	91960794	192780144	56470477	5	71237											
PFKFB2	5208	broad.mit.edu	37	chr1	207240960	207240960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatatccacgtccagcctcGcaccatttacctttgccggc	8	10	7	16	3	0	0	0	0	0	0	3	1	2	0	6	1	3	1	6	1	3	4			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:207240960G>A	ENST00000367080.3	+	9	873	c.749G>A	c.(748-750)cGc>cAc	p.R250H	PFKFB2_ENST00000541914.1_Missense_Mutation_p.R64H|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R217H|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R152H|PFKFB2_ENST00000367079.2_Missense_Mutation_p.R250H	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	250	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GTCCAGCCTCGCACCATTTAC	0.507													50	114					0	0	0	0	A	207240960	G	A	207240960	3	1	366	1	0	0	0	0	1	0	0	0	11833	1087	38	1	779	1	PFKFB2	1	207240960	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	14460816	207240960	42009661	6	71238											
KCNK2	3776	broad.mit.edu	37	chr1	215408401	215408401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagggatgtcttgcctccCttactgaagactgagagtat	10	11	12	8	0	1	4	0	2	1	3	2	7	2	5	2	1	2	1	2	1	3	3			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:215408401C>T	ENST00000444842.2	+	7	1344	c.1194C>T	c.(1192-1194)ccC>ccT	p.P398P	KCNK2_ENST00000391895.2_Silent_p.P394P|KCNK2_ENST00000391894.2_Silent_p.P383P	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	398	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TCTTGCCTCCCTTACTGAAGA	0.493													17	37					0	0	0	0	T	215408401	C	T	215408401	2	4	366	1	0	0	0	0	0	0	0	1	8119	668	24	4		4	KCNK2	1	215408401	Silent	SNP	C	TCGA-D6-6823-01A-11D-1912-08	8167441	215408401	33842220	7	71239											
DISC1	27185	broad.mit.edu	37	chr1	231830106	231830106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtccccccaacccctcctgGctctcacagtgcctttacct	5	10	6	20	0	1	0	1	0	1	0	4	0	3	0	8	2	3	1	8	2	2	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:231830106G>T	ENST00000439617.2	+	2	655	c.602G>T	c.(601-603)gGc>gTc	p.G201V	DISC1_ENST00000366633.3_Missense_Mutation_p.G201V|DISC1_ENST00000317586.4_Missense_Mutation_p.G201V|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.G201V|DISC1_ENST00000537876.1_Missense_Mutation_p.G201V|DISC1_ENST00000539444.1_Missense_Mutation_p.G201V|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.G201V|DISC1_ENST00000535983.1_Missense_Mutation_p.G201V	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	201	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ACCCCTCCTGGCTCTCACAGT	0.612													9	66					7.48243e-07	4.07314e-06	1	0	T	231830106	G	T	231830106	3	4	366	1	0	0	0	0	1	0	0	0	4575	1203	42	4	608	4	DISC1	1	231830106	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	16421705	231830106	17420515	8	71240											
RGS7	6000	broad.mit.edu	37	chr1	240939491	240939491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagcaaggcttgttaacCtcttggacgtgagagatttc	10	12	11	8	1	1	3	0	2	1	1	2	5	1	4	1	2	2	3	1	2	2	4			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:240939491C>T	ENST00000366565.1	-	18	1817	c.1436G>A	c.(1435-1437)aGg>aAg	p.R479K	RGS7_ENST00000366563.1_3'UTR|RGS7_ENST00000446183.2_3'UTR|RGS7_ENST00000348120.2_3'UTR|RGS7_ENST00000366562.4_Missense_Mutation_p.R461K|RGS7_ENST00000366564.1_Missense_Mutation_p.R461K|RGS7_ENST00000331110.7_Intron	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	0					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GCTTGTTAACCTCTTGGACGT	0.403													4	55					0	0	0	0	T	240939491	C	T	240939491	3	4	366	1	0	0	0	0	1	0	0	0	13393	681	24	4	31	4	RGS7	1	240939491	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	9109385	240939491	8311130	9	71241											
CTNNA2	1496	broad.mit.edu	37	chr2	80782950	80782950	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatcatcaatgctgagaTggagaactatgaagctgggg	14	8	12	7	0	2	3	2	2	0	2	2	5	2	3	0	3	3	2	0	3	4	1			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr2:80782950T>C	ENST00000466387.1	+	16	2397	c.1673T>C	c.(1672-1674)aTg>aCg	p.M558T	CTNNA2_ENST00000361291.4_Missense_Mutation_p.M592T|CTNNA2_ENST00000343114.3_Missense_Mutation_p.M237T|CTNNA2_ENST00000402739.4_Missense_Mutation_p.M558T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M558T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M558T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M558T			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	558					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AATGCTGAGATGGAGAACTAT	0.512													10	79					0	0	0	0	C	80782950	T	C	80782950	3	2	366	1	0	0	0	0	1	0	0	0	4045	1464	51	5	1507	5	CTNNA2	2	80782950	Missense_Mutation	SNP	T	TCGA-D6-6823-01A-11D-1912-08		80782950	162416423	10	71242											
RBMS1	5937	broad.mit.edu	37	chr2	161138800	161138800	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgatacttgttttctcTggtttcctttgccacctaag	5	16	7	13	1	1	0	0	0	1	0	3	1	2	0	5	1	2	2	5	1	2	7			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr2:161138800T>C	ENST00000392753.3	-	10	1061	c.907A>G	c.(907-909)Aga>Gga	p.R303G	RBMS1_ENST00000348849.3_Intron|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Intron|RBMS1_ENST00000409289.2_Intron|RBMS1_ENST00000409075.1_Intron			P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	300					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								TTGTTTTCTCTGGTTTCCTTT	0.453													45	118					0	0	0	0	C	161138800	T	C	161138800	3	2	366	1	0	0	0	0	1	0	0	0	13230	1595	55	5		5	RBMS1	2	161138800	Missense_Mutation	SNP	T	TCGA-D6-6823-01A-11D-1912-08	80355850	161138800	82060573	11	71243											
GCG	2641	broad.mit.edu	37	chr2	163005678	163005678	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataatccagccacaaagtaaAtgcttttcatttctgctgtc	12	14	5	10	0	2	0	1	0	1	0	4	0	3	0	2	0	3	3	2	0	4	5			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr2:163005678A>G	ENST00000418842.2	-	2	265	c.11T>C	c.(10-12)aTt>aCt	p.I4T	GCG_ENST00000375497.3_Missense_Mutation_p.I4T	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	4					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	CACAAAGTAAATGCTTTTCAT	0.433													59	114					0	0	0	0	G	163005678	A	G	163005678	3	3	366	1	0	0	0	0	1	0	0	0	6339	101	4	5	551	5	GCG	2	163005678	Missense_Mutation	SNP	A	TCGA-D6-6823-01A-11D-1912-08	1866878	163005678	80193695	12	71244											
LRP2	4036	broad.mit.edu	37	chr2	170134277	170134277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaattccatcataagttaCagtttcaatgtaatcaaacc	15	14	4	8	0	3	1	3	1	0	0	4	1	4	1	2	0	2	3	2	0	6	6			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr2:170134277C>A	ENST00000263816.3	-	13	2035	c.1750G>T	c.(1750-1752)Gta>Tta	p.V584L	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	584					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCATAAGTTACAGTTTCAATG	0.388													25	43					4.26978e-12	2.493e-11	1	0	A	170134277	C	A	170134277	3	1	366	1	0	0	0	0	1	0	0	0	9020	478	17	4	12485	4	LRP2	2	170134277	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	7128599	170134277	73065096	13	71245											
ARPC2	10109	broad.mit.edu	37	chr2	219099116	219099116	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtttcttggtaaatccagaAtcaggtatgtagtcatgtga	12	14	10	5	0	3	2	2	1	1	1	4	2	4	2	1	2	0	4	1	2	5	5			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr2:219099116A>G	ENST00000295685.10	+	4	525	c.264A>G	c.(262-264)gaA>gaG	p.E88E	ARPC2_ENST00000315717.5_Silent_p.E88E	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	88					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TAAATCCAGAATCAGGTATGT	0.328													19	45					0	0	0	0	G	219099116	A	G	219099116	2	3	366	1	0	0	0	0	0	0	0	1	975	98	4	5		5	ARPC2	2	219099116	Silent	SNP	A	TCGA-D6-6823-01A-11D-1912-08	48964839	219099116	24100257	14	71246											
ACSL3	2181	broad.mit.edu	37	chr2	223773571	223773571	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcttttatattttatacaTtttctaatatcactttatac	12	23	0	6	0	3	0	1	0	2	0	3	0	3	0	0	0	2	0	0	0	8	14			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr2:223773571T>A	ENST00000357430.3	+	4	612	c.81T>A	c.(79-81)caT>caA	p.H27Q	ACSL3_ENST00000392066.3_Missense_Mutation_p.H27Q	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	27					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	ATTTTATACATTTTCTAATAT	0.289			T	ETV1	prostate								19	39					0	0	0	0	A	223773571	T	A	223773571	3	1	366	1	0	0	0	0	1	0	0	0	178	1490	52	5	83	5	ACSL3	2	223773571	Missense_Mutation	SNP	T	TCGA-D6-6823-01A-11D-1912-08	4674455	223773571	19425802	15	71247											
DGKD	8527	broad.mit.edu	37	chr2	234346041	234346041	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcacacatcgtgtaaaGaatccttgctgaccaagtgc	12	10	9	10	1	1	2	1	1	0	1	3	2	2	2	2	1	2	3	2	1	4	3			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr2:234346041G>T	ENST00000264057.2	+	8	850	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.E236*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	280					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ATCGTGTAAAGAATCCTTGCT	0.542													11	22					0.000978159	0.00505848	1	0	T	234346041	G	T	234346041	4	4	366	1	0	0	0	0	0	1	0	0	4504	943	33	2	892	2	DGKD	2	234346041	Nonsense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	10572470	234346041	8853332	16	71248											
LRRFIP1	9208	broad.mit.edu	37	chr2	238672160	238672160	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taacgtatcagaacacagatTtaagtgaaattaaggaagaa	20	9	8	4	1	1	4	1	1	0	3	1	5	1	5	0	1	2	1	0	1	8	5			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr2:238672160T>G	ENST00000244815.5	+	10	1972	c.1732T>G	c.(1732-1734)Tta>Gta	p.L578V	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.L546V|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.L602V|LRRFIP1_ENST00000308482.9_Intron	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	602	DNA-binding.|Lys-rich.				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GAACACAGATTTAAGTGAAAT	0.363													5	11					0	0	0	0	G	238672160	T	G	238672160	3	3	366	1	0	0	0	0	1	0	0	0	9091	1838	64	5	2522	5	LRRFIP1	2	238672160	Missense_Mutation	SNP	T	TCGA-D6-6823-01A-11D-1912-08	4326119	238672160	4527213	17	71249											
CCR8	1237	broad.mit.edu	37	chr3	39374725	39374725	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaaccctgttatctatgcTtttgttggggagaagttcaa	9	15	11	6	0	2	2	1	1	1	1	2	3	2	2	1	2	2	4	1	2	5	6			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr3:39374725T>G	ENST00000326306.4	+	2	1041	c.903T>G	c.(901-903)gcT>gcG	p.A301A	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Silent_p.A218A	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	301					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TTATCTATGCTTTTGTTGGGG	0.423													20	27					0	0	0	0	G	39374725	T	G	39374725	2	3	366	1	0	0	0	0	0	0	0	1	2976	1596	56	5		5	CCR8	3	39374725	Silent	SNP	T	TCGA-D6-6823-01A-11D-1912-08		39374725	158647705	18	71250											
RBM6	10180	broad.mit.edu	37	chr3	50095370	50095370	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctcgaagggaagggccaActttccgaagagaccgagag	12	6	13	10	3	1	2	0	0	1	2	3	7	2	3	3	2	1	0	3	2	4	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr3:50095370A>T	ENST00000443081.1	+	9	2426	c.1507A>T	c.(1507-1509)Act>Tct	p.T503S	RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000266022.4_Missense_Mutation_p.T635S|RBM6_ENST00000442092.1_Missense_Mutation_p.T113S|RBM6_ENST00000422955.1_Missense_Mutation_p.T113S			P78332	RBM6_HUMAN	RNA binding motif protein 6	635	RRM.				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GGAAGGGCCAACTTTCCGAAG	0.517													6	10					0	0	0	0	T	50095370	A	T	50095370	3	4	366	1	0	0	0	0	1	0	0	0	13226	43	2	5	1933	5	RBM6	3	50095370	Missense_Mutation	SNP	A	TCGA-D6-6823-01A-11D-1912-08	10720645	50095370	147927060	19	71251											
FOXP1	27086	broad.mit.edu	37	chr3	71026794	71026794	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atactgtgttatttacttacCtgcctaattaaagatgcata	13	16	5	7	0	0	1	0	0	0	1	0	1	0	1	2	0	5	2	2	0	8	8			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr3:71026794C>G	ENST00000318789.4	-	16	1953	c.1428_splice	c.e16+1	p.Q476_splice	FOXP1_ENST00000498215.1_Splice_Site_p.Q476_splice|FOXP1_ENST00000484350.1_Splice_Site_p.Q400_splice|FOXP1_ENST00000475937.1_Splice_Site_p.Q476_splice|FOXP1_ENST00000491238.1_Splice_Site_p.Q478_splice|FOXP1_ENST00000468577.1_Splice_Site_p.Q476_splice|FOXP1_ENST00000493089.1_Splice_Site_p.Q475_splice	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	476					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATTTACTTACCTGCCTAATTA	0.323			T	PAX5	ALL								10	48					0	0	0	0	G	71026794	C	G	71026794	5	3	366	1	0	0	0	0	0	0	1	0	6073	695	24	4	629	4	FOXP1	3	71026794	Splice_Site	SNP	C	TCGA-D6-6823-01A-11D-1912-08	20931424	71026794	126995636	20	71252											
MUC4	4585	broad.mit.edu	37	chr3	195498614	195498614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcccggcctgtgaagcctGttgggagtgggttggggtag	4	10	20	7	1	0	1	0	1	0	0	1	2	1	2	3	6	1	3	3	6	2	3			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr3:195498614G>A	ENST00000463781.3	-	5	13610	c.13151C>T	c.(13150-13152)aCa>aTa	p.T4384I	MUC4_ENST00000475231.1_Missense_Mutation_p.T4384I|MUC4_ENST00000346145.4_Missense_Mutation_p.T148I|MUC4_ENST00000349607.4_Missense_Mutation_p.T97I	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1141					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGAAGCCTGTTGGGAGTGG	0.557													30	85					0	0	0	0	A	195498614	G	A	195498614	3	1	366	1	0	0	0	0	1	0	0	0	10048	1377	48	4	3171	4	MUC4	3	195498614	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	124471820	195498614	2523816	21	71253											
KIAA0232	9778	broad.mit.edu	37	chr4	6864910	6864910	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcattcttggaggagtttAtggagaactcaaaaccttca	13	13	8	7	0	4	1	3	0	1	1	4	4	4	3	1	3	2	1	1	3	4	6			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr4:6864910A>G	ENST00000307659.5	+	7	3256	c.2801A>G	c.(2800-2802)tAt>tGt	p.Y934C	KIAA0232_ENST00000425103.1_Missense_Mutation_p.Y934C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	934							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GGAGGAGTTTATGGAGAACTC	0.443													10	37					0	0	0	0	G	6864910	A	G	6864910	3	3	366	1	0	0	0	0	1	0	0	0	8214	449	16	5	2819	5	KIAA0232	4	6864910	Missense_Mutation	SNP	A	TCGA-D6-6823-01A-11D-1912-08		6864910	184289366	22	71254											
AGPAT9	84803	broad.mit.edu	37	chr4	84519214	84519214	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctcagtataaccctcAgttcggtgatgcattttgga	8	17	8	8	1	2	1	2	1	1	0	4	2	2	2	1	2	2	3	1	2	2	7			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr4:84519214A>T	ENST00000395226.2	+	11	1225	c.1007A>T	c.(1006-1008)cAg>cTg	p.Q336L	AGPAT9_ENST00000264409.4_Missense_Mutation_p.Q336L	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	336					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TATAACCCTCAGTTCGGTGAT	0.433													16	53					0	0	0	0	T	84519214	A	T	84519214	3	4	366	1	0	0	0	0	1	0	0	0	392	188	7	5	1045	5	AGPAT9	4	84519214	Missense_Mutation	SNP	A	TCGA-D6-6823-01A-11D-1912-08	77654304	84519214	106635062	23	71255											
UNC5C	8633	broad.mit.edu	37	chr4	96222757	96222757	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattgtacaatgactcacAtgcaatgcgcacatacgcct	12	11	6	12	2	1	1	1	1	0	0	1	1	1	1	1	0	4	3	1	0	5	4			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr4:96222757A>T	ENST00000453304.1	-	3	838	c.490_splice	c.e3+1	p.Y164_splice	UNC5C_ENST00000504962.1_Splice_Site_p.Y164_splice|UNC5C_ENST00000506749.1_Splice_Site_p.Y164_splice	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	164	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AATGACTCACATGCAATGCGC	0.483													13	60					0	0	0	0	T	96222757	A	T	96222757	5	4	366	1	0	0	0	0	0	0	1	0	17089	231	8	5	2361	5	UNC5C	4	96222757	Splice_Site	SNP	A	TCGA-D6-6823-01A-11D-1912-08	11703543	96222757	94931519	24	71256											
TNIP3	79931	broad.mit.edu	37	chr4	122063056	122063056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaccaagccgcagttacagGgtgggcaatacatctgagga	14	6	12	9	1	1	1	0	1	1	0	1	2	1	2	2	3	4	3	2	3	5	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr4:122063056G>T	ENST00000454328.1	-	11	1027	c.800C>A	c.(799-801)cCc>cAc	p.P267H	TNIP3_ENST00000509841.1_Missense_Mutation_p.P344H|TNIP3_ENST00000507879.1_Missense_Mutation_p.P337H|TNIP3_ENST00000057513.3_Missense_Mutation_p.P267H|TNIP3_ENST00000511909.1_5'UTR			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	267										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GCAGTTACAGGGTGGGCAATA	0.507													7	40					7.48243e-07	4.07314e-06	1	0	T	122063056	G	T	122063056	3	4	366	1	0	0	0	0	1	0	0	0	16410	1232	43	4	189	4	TNIP3	4	122063056	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	25840299	122063056	69091220	25	71257											
PLK4	10733	broad.mit.edu	37	chr4	128814677	128814677	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgaaatagggtcatcgtAtttgtttagcactggaatcc	10	16	9	6	1	1	1	1	1	0	0	3	2	2	2	1	2	1	3	1	2	5	7			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr4:128814677A>G	ENST00000270861.5	+	12	2606	c.2332A>G	c.(2332-2334)Att>Gtt	p.I778V	PLK4_ENST00000514379.1_Missense_Mutation_p.I737V|PLK4_ENST00000515069.1_Missense_Mutation_p.I700V|PLK4_ENST00000507249.1_Missense_Mutation_p.I717V|PLK4_ENST00000513090.1_Missense_Mutation_p.I746V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	778					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GGGTCATCGTATTTGTTTAGC	0.338													11	50					0	0	0	0	G	128814677	A	G	128814677	3	3	366	1	0	0	0	0	1	0	0	0	12170	449	16	5	2378	5	PLK4	4	128814677	Missense_Mutation	SNP	A	TCGA-D6-6823-01A-11D-1912-08	6751621	128814677	62339599	26	71258											
ROPN1L	83853	broad.mit.edu	37	chr5	10448390	10448390	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctatttttcagctctgtcGagaggagatccacttcctgt	8	14	9	10	1	2	2	1	0	1	2	5	4	4	2	2	1	2	2	2	1	1	4			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr5:10448390G>A	ENST00000503804.1	+	3	671	c.150G>A	c.(148-150)tcG>tcA	p.S50S	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Silent_p.S50S			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	50					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	p.S50S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CAGCTCTGTCGAGAGGAGATC	0.423													24	48					0	0	0	0	A	10448390	G	A	10448390	2	1	366	1	0	0	0	0	0	0	0	1	13610	1045	37	1		1	ROPN1L	5	10448390	Silent	SNP	G	TCGA-D6-6823-01A-11D-1912-08		10448390	170466870	27	71259											
LIFR	3977	broad.mit.edu	37	chr5	38493875	38493875	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatcccaacaacttgttctAttttgagatcatcttcaata	12	15	3	11	0	4	1	2	1	2	1	5	2	5	1	2	0	2	1	2	0	5	7			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr5:38493875A>G	ENST00000263409.4	-	14	2060	c.1898T>C	c.(1897-1899)aTa>aCa	p.I633T	LIFR_ENST00000453190.2_Missense_Mutation_p.I633T|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	633	Fibronectin type-III 5.		I -> M (in dbSNP:rs2303743).		positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AACTTGTTCTATTTTGAGATC	0.383			T	PLAG1	salivary adenoma								20	34					0	0	0	0	G	38493875	A	G	38493875	3	3	366	1	0	0	0	0	1	0	0	0	8834	449	16	5	1423	5	LIFR	5	38493875	Missense_Mutation	SNP	A	TCGA-D6-6823-01A-11D-1912-08	28045485	38493875	142421385	28	71260											
PCDHB5	26167	broad.mit.edu	37	chr5	140517214	140517214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccgagggcccctttccagGgcatctggtggacgtgagcg	5	7	16	13	3	1	1	0	1	1	0	2	3	2	2	4	4	1	1	4	4	0	1			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr5:140517214G>C	ENST00000231134.5	+	1	2415	c.2198G>C	c.(2197-2199)gGg>gCg	p.G733A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		733					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTTTCCAGGGCATCTGGTG	0.652													56	79					0	0	0	0	C	140517214	G	C	140517214	3	2	366	1	0	0	0	0	1	0	0	0	11616	1232	43	4	2200	4	PCDHB5	5	140517214	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	102023339	140517214	40398046	29	71261											
JAKMIP2	9832	broad.mit.edu	37	chr5	147040903	147040903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctccttcatcttctcctCatggagcttggctttgagtt	5	16	8	12	0	4	1	2	1	2	0	6	2	5	2	2	2	2	4	2	2	0	5			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr5:147040903C>T	ENST00000265272.5	-	3	702	c.235G>A	c.(235-237)Gag>Aag	p.E79K	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E79K|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E37K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	79						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTTCTCCTCATGGAGCTTG	0.517													64	65					0	0	0	0	T	147040903	C	T	147040903	3	4	366	1	0	0	0	0	1	0	0	0	7994	835	29	2	2273	2	JAKMIP2	5	147040903	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	6523689	147040903	33874357	30	71262											
GCNT2	2651	broad.mit.edu	37	chr6	10586756	10586756	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactgtctgaaagaccttgtCgcctctgaggttccctggaa	9	11	10	11	1	2	3	0	2	2	1	4	4	3	4	3	2	1	1	3	2	3	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr6:10586756C>T	ENST00000265012.4	+	1	778	c.534C>T	c.(532-534)gtC>gtT	p.V178V	GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	178						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AAGACCTTGTCGCCTCTGAGG	0.473													48	102					0	0	0	0	T	10586756	C	T	10586756	2	4	366	1	0	0	0	0	0	0	0	1	6350	871	31	1		1	GCNT2	6	10586756	Silent	SNP	C	TCGA-D6-6823-01A-11D-1912-08		10586756	160528311	31	71263											
C6orf10	10665	broad.mit.edu	37	chr6	32337718	32337718	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttaacaaaatagccaggAtggcaagtcccagtagagtc	14	9	10	8	0	0	1	0	0	0	1	2	2	1	2	2	2	2	3	2	2	6	4			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr6:32337718A>C	ENST00000375015.4	-	2	256	c.56T>G	c.(55-57)aTc>aGc	p.I19S	C6orf10_ENST00000533191.1_Missense_Mutation_p.I19S|C6orf10_ENST00000527965.1_Missense_Mutation_p.I19S|C6orf10_ENST00000442822.2_Missense_Mutation_p.I19S|C6orf10_ENST00000447241.2_Missense_Mutation_p.I19S|C6orf10_ENST00000375007.4_Missense_Mutation_p.I19S			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	19						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						AATAGCCAGGATGGCAAGTCC	0.403													64	102					0	0	0	0	C	32337718	A	C	32337718	3	2	366	1	0	0	0	0	1	0	0	0	2338	333	12	5	1427	5	C6orf10	6	32337718	Missense_Mutation	SNP	A	TCGA-D6-6823-01A-11D-1912-08	21750962	32337718	138777349	32	71264											
PHF3	23469	broad.mit.edu	37	chr6	64422440	64422440	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcaacctgaaaagggatccTaggcaagcagcaggacgaag	16	4	12	9	1	1	1	1	1	0	0	2	4	2	3	2	3	3	3	2	3	6	1			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr6:64422440T>A	ENST00000262043.3	+	16	5296	c.4956T>A	c.(4954-4956)ccT>ccA	p.P1652P	PHF3_ENST00000393387.1_Silent_p.P1652P			Q92576	PHF3_HUMAN	PHD finger protein 3	1652					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAGGGATCCTAGGCAAGCAG	0.453													10	27					0	0	0	0	A	64422440	T	A	64422440	2	1	366	1	0	0	0	0	0	0	0	1	11908	1509	53	5		5	PHF3	6	64422440	Silent	SNP	T	TCGA-D6-6823-01A-11D-1912-08	32084722	64422440	106692627	33	71265											
SIM1	6492	broad.mit.edu	37	chr6	100838366	100838366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatagtttctaatggtttcGctgtcatataagtgctccag	10	15	9	7	1	2	0	1	0	1	0	4	1	3	0	1	1	1	4	1	1	5	6			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr6:100838366G>T	ENST00000369208.3	-	12	2954	c.2172C>A	c.(2170-2172)agC>agA	p.S724R	SIM1_ENST00000262901.4_Missense_Mutation_p.S724R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	724	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TAATGGTTTCGCTGTCATATA	0.463													17	83					0.000566183	0.00297041	1	0	T	100838366	G	T	100838366	3	4	366	1	0	0	0	0	1	0	0	0	14411	1078	38	3	132	3	SIM1	6	100838366	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	36415926	100838366	70276701	34	71266											
SYNE1	23345	broad.mit.edu	37	chr6	152757214	152757214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcagcctggactgcaataCtttctgtccgtttagaaaac	10	13	7	11	1	2	1	1	0	2	1	4	2	3	2	2	1	4	2	2	1	5	4			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr6:152757214C>T	ENST00000367255.5	-	33	4773	c.4172G>A	c.(4171-4173)aGt>aAt	p.S1391N	SYNE1_ENST00000367253.4_Missense_Mutation_p.S1391N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1391N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1398N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1457N|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1391N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1398N|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1381N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1391					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACTGCAATACTTTCTGTCCG	0.398										HNSCC(10;0.0054)			7	47					0	0	0	0	T	152757214	C	T	152757214	3	4	366	1	0	0	0	0	1	0	0	0	15536	565	20	4	22750	4	SYNE1	6	152757214	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	51918848	152757214	18357853	35	71267											
SEMA3E	9723	broad.mit.edu	37	chr7	83119474	83119474	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaagctgagggaatataCaaggtccctgcctcccacga	11	7	9	14	1	0	1	0	1	0	0	3	3	3	2	4	2	3	1	4	2	5	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr7:83119474C>G	ENST00000307792.3	-	2	699	c.232G>C	c.(232-234)Gta>Cta	p.V78L	SEMA3E_ENST00000427262.1_Missense_Mutation_p.V18L	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	78	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGGGAATATACAAGGTCCCTG	0.413													8	45					0	0	0	0	G	83119474	C	G	83119474	3	3	366	1	0	0	0	0	1	0	0	0	14115	478	17	4	2159	4	SEMA3E	7	83119474	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08		83119474	76019189	36	71268											
C7orf60	154743	broad.mit.edu	37	chr7	112462082	112462082	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatgccatcagatgcataTgtgaaaattttgagtacttg	14	14	8	5	0	1	3	1	2	0	1	1	3	1	3	1	0	3	2	1	0	6	6			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr7:112462082T>C	ENST00000297145.4	-	5	1100	c.935A>G	c.(934-936)cAt>cGt	p.H312R		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	312										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CAGATGCATATGTGAAAATTT	0.388													10	32					0	0	0	0	C	112462082	T	C	112462082	3	2	366	1	0	0	0	0	1	0	0	0	2430	1464	51	5	286	5	C7orf60	7	112462082	Missense_Mutation	SNP	T	TCGA-D6-6823-01A-11D-1912-08	29342608	112462082	46676581	37	71269											
RP1	6101	broad.mit.edu	37	chr8	55539875	55539875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaagggaagtatgaatagcTtctgtcaagttgatgctcac	13	12	10	6	0	3	2	2	2	1	0	3	3	3	3	0	1	2	4	0	1	7	5			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr8:55539875T>C	ENST00000220676.1	+	4	3581	c.3433T>C	c.(3433-3435)Ttc>Ctc	p.F1145L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1145					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATGAATAGCTTCTGTCAAGT	0.408													4	84					0	0	0	0	C	55539875	T	C	55539875	3	2	366	1	0	0	0	0	1	0	0	0	13617	1609	56	5	3443	5	RP1	8	55539875	Missense_Mutation	SNP	T	TCGA-D6-6823-01A-11D-1912-08		55539875	90824147	38	71270											
KCNB2	9312	broad.mit.edu	37	chr8	73849904	73849904	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagacccttgctgggcactGaggtttcagcgccttgtcag	7	10	12	12	1	2	2	2	1	0	1	2	2	2	2	2	2	2	3	2	2	0	3			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr8:73849904G>C	ENST00000523207.1	+	3	2902	c.2314G>C	c.(2314-2316)Gag>Cag	p.E772Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	772					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCTGGGCACTGAGGTTTCAGC	0.552													23	113					0	0	0	0	C	73849904	G	C	73849904	3	2	366	1	0	0	0	0	1	0	0	0	8066	1291	45	2	2320	2	KCNB2	8	73849904	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	18310029	73849904	72514118	39	71271											
TRHR	7201	broad.mit.edu	37	chr8	110131311	110131311	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagtggttgtaattctgtTtgcccttttatggatgccct	5	17	11	8	0	1	0	0	0	1	0	1	1	1	1	2	3	2	4	2	3	2	6			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr8:110131311T>G	ENST00000518632.1	+	3	1175	c.824T>G	c.(823-825)tTt>tGt	p.F275C	TRHR_ENST00000311762.2_Missense_Mutation_p.F275C			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	275						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTAATTCTGTTTGCCCTTTTA	0.408													38	375					0	0	0	0	G	110131311	T	G	110131311	3	3	366	1	0	0	0	0	1	0	0	0	16575	1841	64	5	830	5	TRHR	8	110131311	Missense_Mutation	SNP	T	TCGA-D6-6823-01A-11D-1912-08	36281407	110131311	36232711	40	71272											
CSMD3	114788	broad.mit.edu	37	chr8	113842012	113842012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattcttcaaaatttatctGgataacctagcagtaaacag	17	12	5	7	0	3	0	1	0	2	0	3	1	3	1	1	1	3	2	1	1	8	7			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr8:113842012G>T	ENST00000297405.5	-	12	2006	c.1762C>A	c.(1762-1764)Cag>Aag	p.Q588K	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q548K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q484K|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q588K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	588	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATTTATCTGGATAACCTAG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	29					0.000602214	0.00313671	1	0	T	113842012	G	T	113842012	3	4	366	1	0	0	0	0	1	0	0	0	3978	1357	47	4	9601	4	CSMD3	8	113842012	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	3710701	113842012	32522010	41	71273											
ZNF572	137209	broad.mit.edu	37	chr8	125989980	125989980	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagcatcggaaaattcaCgtagaaaagccttttgagtc	14	10	9	8	2	2	2	2	1	0	1	4	3	2	3	1	1	2	2	1	1	5	4			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr8:125989980C>T	ENST00000319286.5	+	3	1624	c.1470C>T	c.(1468-1470)caC>caT	p.H490H		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GGAAAATTCACGTAGAAAAGC	0.473										HNSCC(60;0.17)			18	183					0	0	0	0	T	125989980	C	T	125989980	2	4	366	1	0	0	0	0	0	0	0	1	18099	535	19	1		1	ZNF572	8	125989980	Silent	SNP	C	TCGA-D6-6823-01A-11D-1912-08	12147968	125989980	20374042	42	71274											
CBWD6	644019	broad.mit.edu	37	chr9	69238242	69238242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgtacctaagtgtcgttCttaatttctttacatcttct	7	22	4	8	1	4	0	0	0	4	0	5	0	4	0	1	0	2	2	1	0	4	10			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr9:69238242C>T	ENST00000377457.5	-	8	755	c.650G>A	c.(649-651)aGa>aAa	p.R217K	CBWD6_ENST00000382399.4_Missense_Mutation_p.R197K|CBWD6_ENST00000377449.1_Missense_Mutation_p.R181K	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	217							ATP binding			lung(4)	4						AAGTGTCGTTCTTAATTTCTT	0.333													36	53					0	0	0	0	T	69238242	C	T	69238242	3	4	366	1	0	0	0	0	1	0	0	0	2741	913	32	2	569	2	CBWD6	9	69238242	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08		69238242	71975189	43	71275											
FRMD3	257019	broad.mit.edu	37	chr9	85863354	85863354	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttcactagggggatcttCatactcccgggctgccttca	6	12	9	14	1	5	0	3	0	2	0	6	1	6	1	2	3	2	1	2	3	2	5			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr9:85863354C>G	ENST00000304195.3	-	14	1479	c.1273G>C	c.(1273-1275)Gaa>Caa	p.E425Q	FRMD3_ENST00000328788.1_Missense_Mutation_p.E82Q|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376434.1_Missense_Mutation_p.E231Q|FRMD3_ENST00000376438.1_Missense_Mutation_p.E425Q	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	425						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GGGGGATCTTCATACTCCCGG	0.468													12	37					0	0	0	0	G	85863354	C	G	85863354	3	3	366	1	0	0	0	0	1	0	0	0	6098	835	29	2	524	2	FRMD3	9	85863354	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	16625112	85863354	55350077	44	71276											
RASGEF1A	221002	broad.mit.edu	37	chr10	43692516	43692516	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtccatgtcatgaacTcatggatctgtctggagatc	8	13	10	10	0	4	2	2	1	2	1	6	4	5	3	2	2	1	0	2	2	1	0			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr10:43692516T>C	ENST00000395809.1	-	11	3762	c.1256A>G	c.(1255-1257)gAg>gGg	p.E419G	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.E419G|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.E427G			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	419	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TGTCATGAACTCATGGATCTG	0.517													13	56					0	0	0	0	C	43692516	T	C	43692516	3	2	366	1	0	0	0	0	1	0	0	0	13151	1551	54	5	201	5	RASGEF1A	10	43692516	Missense_Mutation	SNP	T	TCGA-D6-6823-01A-11D-1912-08		43692516	91842231	45	71277											
OR52M1	119772	broad.mit.edu	37	chr11	4566851	4566851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcacttatacagtggtggGtcgtttggggcttgtttctc	4	16	13	8	1	2	0	1	0	1	0	4	0	2	0	0	4	1	4	0	4	2	5			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:4566851G>A	ENST00000360213.1	+	1	431	c.431G>A	c.(430-432)gGt>gAt	p.G144D		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTGGTGGGTCGTTTGGGG	0.522													28	60					0	0	0	0	A	4566851	G	A	4566851	3	1	366	1	0	0	0	0	1	0	0	0	11197	1261	44	4	433	4	OR52M1	11	4566851	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08		4566851	130439665	46	71278											
OR51A4	401666	broad.mit.edu	37	chr11	4967421	4967421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgacacaattttgctacaaCtctcactctaatctgtttag	11	16	4	10	0	3	1	1	1	3	0	4	1	3	1	0	0	3	2	0	0	5	7			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:4967421C>T	ENST00000380373.2	-	1	935	c.910G>A	c.(910-912)Gtt>Att	p.V304I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTGCTACAACTCTCACTCTA	0.353													28	254					0	0	0	0	T	4967421	C	T	4967421	3	4	366	1	0	0	0	0	1	0	0	0	11158	565	20	4	33	4	OR51A4	11	4967421	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	400570	4967421	130039095	47	71279											
NAV2	89797	broad.mit.edu	37	chr11	19735323	19735323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgcgcccatcctgcacgtgCccccggcccgggcgggcccc	2	3	13	23	6	0	0	0	0	0	0	1	0	1	0	8	3	2	1	8	3	0	0			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:19735323C>T	ENST00000396085.1	+	1	443	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S	NAV2_ENST00000349880.4_Missense_Mutation_p.P28S|NAV2_ENST00000396087.3_Missense_Mutation_p.P28S|NAV2_ENST00000360655.4_Intron	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	28						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTGCACGTgcccccggcccg	0.662													7	25					0	0	0	0	T	19735323	C	T	19735323	3	4	366	1	0	0	0	0	1	0	0	0	10254	739	26	4	163	4	NAV2	11	19735323	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	14767902	19735323	115271193	48	71280											
EHF	26298	broad.mit.edu	37	chr11	34673089	34673089	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctctattttttgtagAgccttccatcatgaacacct	8	17	4	12	0	2	2	1	1	1	1	5	2	4	2	4	0	2	1	4	0	3	7			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:34673089A>T	ENST00000257831.3	+	5	528	c.406_splice	c.e5-1	p.E136_splice	EHF_ENST00000450654.2_Splice_Site_p.E136_splice|EHF_ENST00000533754.1_Splice_Site_p.E136_splice|EHF_ENST00000531794.1_Splice_Site_p.E158_splice|EHF_ENST00000530286.1_Splice_Site_p.E136_splice	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	136					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			TTTTTTGTAGAGCCTTCCATC	0.423													20	41					0	0	0	0	T	34673089	A	T	34673089	5	4	366	1	0	0	0	0	0	0	1	0	5017	318	11	5	421	5	EHF	11	34673089	Splice_Site	SNP	A	TCGA-D6-6823-01A-11D-1912-08	14937766	34673089	100333427	49	71281											
SPI1	6688	broad.mit.edu	37	chr11	47381575	47381575	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgtgcacgtggtgggggtgGaagtcccagtaatggtctgt	6	11	17	7	1	1	0	0	0	1	0	2	1	2	1	1	5	1	2	1	5	2	1			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:47381575G>C	ENST00000378538.3	-	3	381	c.159C>G	c.(157-159)ttC>ttG	p.F53L	SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.F53L|SPI1_ENST00000227163.4_Missense_Mutation_p.F54L	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	53					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GGTGGGGGTGGAAGTCCCAGT	0.582													6	6					0	0	0	0	C	47381575	G	C	47381575	3	2	366	1	0	0	0	0	1	0	0	0	15139	1165	41	2	665	2	SPI1	11	47381575	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	12708486	47381575	87624941	50	71282											
OR8J1	219477	broad.mit.edu	37	chr11	56128447	56128447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagccttttctacctgtgCttcacatatgatggcagtca	11	13	7	10	0	3	1	2	1	1	0	3	1	3	1	2	1	3	2	2	1	4	5			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:56128447C>T	ENST00000303039.3	+	1	757	c.725C>T	c.(724-726)gCt>gTt	p.A242V		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TCTACCTGTGCTTCACATATG	0.348													35	69					0	0	0	0	T	56128447	C	T	56128447	3	4	366	1	0	0	0	0	1	0	0	0	11312	797	28	4	727	4	OR8J1	11	56128447	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	8746872	56128447	78878069	51	71283											
SF3B2	10992	broad.mit.edu	37	chr11	65826722	65826722	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagccagagaaacttgaCaaactggagaactctgcagc	16	5	11	9	0	1	3	0	1	1	2	1	6	1	4	1	2	6	1	1	2	4	1	rs71762974		TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:65826722C>T	ENST00000528302.1	+	10	1236	c.1182C>T	c.(1180-1182)gaC>gaT	p.D394D	SF3B2_ENST00000322535.6_Silent_p.D411D			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	411					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGAAACTTGACAAACTGGAGA	0.532													10	27					0	0	0	0	T	65826722	C	T	65826722	2	4	366	1	0	0	0	0	0	0	0	1	14238	477	17	4		4	SF3B2	11	65826722	Silent	SNP	C	TCGA-D6-6823-01A-11D-1912-08	9698275	65826722	69179794	52	71284											
INPPL1	3636	broad.mit.edu	37	chr11	71939892	71939892	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagctccagctgctgagagGtgagacccccatcccatcca	10	6	9	16	0	0	2	0	2	0	2	3	4	3	2	5	1	3	3	5	1	0	0			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:71939892G>A	ENST00000541756.1	+	4	722		c.e4+1		INPPL1_ENST00000298229.2_Splice_Site|INPPL1_ENST00000538751.1_Splice_Site			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1						actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTGCTGAGAGGTGAGACCCCC	0.627													21	44					0	0	0	0	A	71939892	G	A	71939892	5	1	366	1	0	0	0	0	0	0	1	0	7814	1275	44	4	533	4	INPPL1	11	71939892	Splice_Site	SNP	G	TCGA-D6-6823-01A-11D-1912-08	6113170	71939892	63066624	53	71285											
USP35	57558	broad.mit.edu	37	chr11	77924730	77924730	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcagggcggcctacatCtctgcactccccacatctcc	7	7	9	18	2	2	0	0	0	2	0	5	1	3	1	4	3	3	2	4	3	1	1			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:77924730C>A	ENST00000529308.1	+	11	3189	c.2928C>A	c.(2926-2928)atC>atA	p.I976I	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Silent_p.I544I|USP35_ENST00000526425.1_Silent_p.I707I|USP35_ENST00000441408.2_Silent_p.I562I	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	976					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CGGCCTACATCTCTGCACTCC	0.577													19	53					4.96729e-08	2.7664e-07	1	0	A	77924730	C	A	77924730	2	1	366	1	0	0	0	0	0	0	0	1	17162	903	32	2		2	USP35	11	77924730	Silent	SNP	C	TCGA-D6-6823-01A-11D-1912-08	5984838	77924730	57081786	54	71286											
FAT3	120114	broad.mit.edu	37	chr11	92085482	92085482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacagccagagtagaatGggcatcaccttaatagatct	14	9	9	9	0	3	3	2	0	1	3	3	3	3	3	2	1	2	2	2	1	5	3			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:92085482G>A	ENST00000298047.6	+	1	221	c.204G>A	c.(202-204)atG>atA	p.M68I	FAT3_ENST00000541502.1_Missense_Mutation_p.M68I|FAT3_ENST00000409404.2_Missense_Mutation_p.M68I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	68	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGTAGAATGGGCATCACCT	0.458										TCGA Ovarian(4;0.039)			16	48					0	0	0	0	A	92085482	G	A	92085482	3	1	366	1	0	0	0	0	1	0	0	0	5736	1348	47	4	206	4	FAT3	11	92085482	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	14160752	92085482	42921034	55	71287											
SLC36A4	120103	broad.mit.edu	37	chr11	92901243	92901243	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggaagaaagcaaagcataTatatccttaggtcaacactt	17	10	7	7	0	1	1	1	0	0	1	2	2	2	2	1	2	3	2	1	2	8	5			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:92901243T>C	ENST00000326402.4	-	7	765	c.635A>G	c.(634-636)tAt>tGt	p.Y212C	SLC36A4_ENST00000529184.1_Missense_Mutation_p.Y77C	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	212					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCAAAGCATATATATCCTTAG	0.353													19	47					0	0	0	0	C	92901243	T	C	92901243	3	2	366	1	0	0	0	0	1	0	0	0	14684	1406	49	5	899	5	SLC36A4	11	92901243	Missense_Mutation	SNP	T	TCGA-D6-6823-01A-11D-1912-08	815761	92901243	42105273	56	71288											
JRKL	8690	broad.mit.edu	37	chr11	96125222	96125222	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaggaggaggaaatagaacTaattccagagaaacatatta	19	8	10	4	0	0	3	0	1	0	2	1	7	1	6	1	3	2	0	1	3	7	5			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:96125222T>G	ENST00000458427.1	+	1	2065	c.1409T>G	c.(1408-1410)cTa>cGa	p.L470R	JRKL_ENST00000332349.4_Missense_Mutation_p.L470R|JRKL_ENST00000546177.1_Intron	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	470					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GAAATAGAACTAATTCCAGAG	0.398													5	22					0	0	0	0	G	96125222	T	G	96125222	3	3	366	1	0	0	0	0	1	0	0	0	8018	1522	53	5	1411	5	JRKL	11	96125222	Missense_Mutation	SNP	T	TCGA-D6-6823-01A-11D-1912-08	3223979	96125222	38881294	57	71289											
ROBO4	54538	broad.mit.edu	37	chr11	124756427	124756427	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctatccacagccactgccagGgcccgggcaaagtgagcatc	10	5	11	15	1	0	1	0	1	0	0	2	1	1	1	4	2	3	2	4	2	2	1			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:124756427G>T	ENST00000306534.3	-	16	3212	c.2727C>A	c.(2725-2727)gcC>gcA	p.A909A	ROBO4_ENST00000533054.1_Silent_p.A764A|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	909					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCACTGCCAGGGCCCGGGCAA	0.602													8	39					5.18039e-06	2.77822e-05	1	0	T	124756427	G	T	124756427	2	4	366	1	0	0	0	0	0	0	0	1	13601	1219	43	4		4	ROBO4	11	124756427	Silent	SNP	G	TCGA-D6-6823-01A-11D-1912-08	28631205	124756427	10250089	58	71290											
FKBP4	2288	broad.mit.edu	37	chr12	2907902	2907902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtttaagggagaagatCtgacggaagaggaagatggc	14	8	16	3	1	1	6	0	2	1	4	1	9	1	8	0	4	0	1	0	4	4	3			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:2907902C>A	ENST00000001008.4	+	4	611	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	142					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GGGAGAAGATCTGACGGAAGA	0.483													49	148					5.57489e-27	3.42053e-26	1	0	A	2907902	C	A	2907902	3	1	366	1	0	0	0	0	1	0	0	0	5955	912	32	2	438	2	FKBP4	12	2907902	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08		2907902	130943993	59	71291											
GALNT8	26290	broad.mit.edu	37	chr12	4854675	4854675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacaacattcgttttgacaCcttcaaactggataagtatg	13	13	7	8	1	1	2	1	2	0	0	2	3	1	3	1	1	2	2	1	1	4	6			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:4854675C>T	ENST00000252318.2	+	5	1278	c.941C>T	c.(940-942)aCc>aTc	p.T314I		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	314						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CGTTTTGACACCTTCAAACTG	0.488													23	69					0	0	0	0	T	4854675	C	T	4854675	3	4	366	1	0	0	0	0	1	0	0	0	6268	507	18	4	959	4	GALNT8	12	4854675	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	1946773	4854675	128997220	60	71292											
KCNA1	3736	broad.mit.edu	37	chr12	5021157	5021157	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgggcaccgtccaccgcAtcgacaacaccacggtcatc	10	5	8	18	5	2	0	2	0	0	0	5	1	3	0	4	2	1	2	4	2	1	0			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:5021157A>T	ENST00000382545.3	+	2	1720	c.613A>T	c.(613-615)Atc>Ttc	p.I205F	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	205					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGTCCACCGCATCGACAACAC	0.537													19	48					0	0	0	0	T	5021157	A	T	5021157	3	4	366	1	0	0	0	0	1	0	0	0	8054	217	8	5	615	5	KCNA1	12	5021157	Missense_Mutation	SNP	A	TCGA-D6-6823-01A-11D-1912-08	166482	5021157	128830738	61	71293											
PRB1	5542	broad.mit.edu	37	chr12	11506741	11506741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacctccttgtgggggtggtCcttgtggttttcctggagga	3	15	15	8	0	0	0	0	0	0	0	3	2	3	2	4	6	1	1	4	6	1	5			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:11506741C>A	ENST00000500254.2	-	3	333	c.296G>T	c.(295-297)gGa>gTa	p.G99V	PRB1_ENST00000545626.1_Missense_Mutation_p.G99V|PRB1_ENST00000546254.1_Missense_Mutation_p.G99V	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	282	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGTGGTCCTTGTGGTTT	0.607													25	507					5.43694e-19	3.28029e-18	1	0	A	11506741	C	A	11506741	3	1	366	1	0	0	0	0	1	0	0	0	12522	855	30	2	703	2	PRB1	12	11506741	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	6485584	11506741	122345154	62	71294											
PRB2	653247	broad.mit.edu	37	chr12	11546653	11546653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctccttgtgggggtggtCcttgtggctttcctggagga	2	14	16	9	0	0	0	0	0	0	0	3	2	3	2	4	6	1	1	4	6	0	3			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:11546653C>A	ENST00000389362.4	-	3	394	c.359G>T	c.(358-360)gGa>gTa	p.G120V	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGTGGTCCTTGTGGCTT	0.597													32	713					6.90743e-12	4.00078e-11	1	0	A	11546653	C	A	11546653	3	1	366	1	0	0	0	0	1	0	0	0	12523	855	30	2	895	2	PRB2	12	11546653	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	39912	11546653	122305242	63	71295											
MRPS35	60488	broad.mit.edu	37	chr12	27888432	27888432	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcaaagaagaaattaattaAacttgtaggagagcgatact	18	9	9	5	2	0	3	0	0	0	3	0	5	0	3	0	1	3	2	0	1	8	5			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:27888432A>C	ENST00000081029.3	+	6	646	c.575A>C	c.(574-576)aAa>aCa	p.K192T	MRPS35_ENST00000538315.1_Intron	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	192					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AAATTAATTAAACTTGTAGGA	0.323													22	54					0	0	0	0	C	27888432	A	C	27888432	3	2	366	1	0	0	0	0	1	0	0	0	9914	14	1	5	597	5	MRPS35	12	27888432	Missense_Mutation	SNP	A	TCGA-D6-6823-01A-11D-1912-08	16341779	27888432	105963463	64	71296											
KRT4	3851	broad.mit.edu	37	chr12	53201426	53201426	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccctgcctaacccctcAcctgtactcctcgccctcca	7	8	3	23	1	1	0	1	0	0	0	4	0	3	0	8	0	3	1	8	0	2	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:53201426A>G	ENST00000551956.1	-	7	1839		c.e7+1		KRT4_ENST00000458244.2_Splice_Site|KRT4_ENST00000293774.4_Splice_Site			B4DRS2	B4DRS2_HUMAN	keratin 4							keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTAACCCCTCACCTGTACTCC	0.582													31	57					0	0	0	0	G	53201426	A	G	53201426	5	3	366	1	0	0	0	0	0	0	1	0	8529	173	6	5	226	5	KRT4	12	53201426	Splice_Site	SNP	A	TCGA-D6-6823-01A-11D-1912-08	25312994	53201426	80650469	65	71297											
ACTR6	64431	broad.mit.edu	37	chr12	100604114	100604114	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaccaatcatctaaaggAgatcatatcttacaggtgat	15	12	6	8	0	4	2	2	1	2	1	4	3	4	2	1	2	2	0	1	2	6	4			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:100604114A>T	ENST00000188312.2	+	6	1322	c.557A>T	c.(556-558)gAg>gTg	p.E186V	ACTR6_ENST00000552376.1_Missense_Mutation_p.E186V|ACTR6_ENST00000546902.1_Missense_Mutation_p.E104V|ACTR6_ENST00000551617.1_Missense_Mutation_p.E104V	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	186						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						CATCTAAAGGAGATCATATCT	0.358													33	75					0	0	0	0	T	100604114	A	T	100604114	3	4	366	1	0	0	0	0	1	0	0	0	216	304	11	5	579	5	ACTR6	12	100604114	Missense_Mutation	SNP	A	TCGA-D6-6823-01A-11D-1912-08	47402688	100604114	33247781	66	71298											
NCOR2	9612	broad.mit.edu	37	chr12	124979778	124979778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctccacgtctgtgccacaGgctgtgtggatcccgacatg	6	9	11	15	2	1	0	0	0	1	0	3	2	3	1	4	2	1	1	4	2	0	0			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:124979778G>A	ENST00000356219.3	-	2	175	c.20C>T	c.(19-21)cCt>cTt	p.P7L	NCOR2_ENST00000405201.1_Missense_Mutation_p.P7L|NCOR2_ENST00000429285.2_Missense_Mutation_p.P7L|NCOR2_ENST00000397355.1_Missense_Mutation_p.P7L|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000404621.1_Missense_Mutation_p.P7L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	7				P -> L (in Ref. 2; AAD20946).	cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGTGCCACAGGCTGTGTGGA	0.627													5	29					0	0	0	0	A	124979778	G	A	124979778	3	1	366	1	0	0	0	0	1	0	0	0	10306	1000	35	4	7736	4	NCOR2	12	124979778	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	24375664	124979778	8872117	67	71299											
LCP1	3936	broad.mit.edu	37	chr13	46716466	46716466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggccagtgtgagagtgCggtttccttcattgagatct	8	13	12	8	1	3	2	2	2	1	2	4	4	4	2	2	2	1	1	2	2	1	3			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr13:46716466C>T	ENST00000398576.2	-	16	1851	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	LCP1_ENST00000323076.2_Missense_Mutation_p.R488H|LCP1_ENST00000435666.2_Missense_Mutation_p.R57H			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	488	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGTGAGAGTGCGGTTTCCTTC	0.413			T	BCL6	NHL								16	97					0	0	0	0	T	46716466	C	T	46716466	3	4	366	1	0	0	0	0	1	0	0	0	8744	768	27	1	436	1	LCP1	13	46716466	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08		46716466	68453412	68	71300											
OR11H12	440153	broad.mit.edu	37	chr14	19378056	19378056	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatatcatgactgggcatCtctgtgccaaactggtcata	11	12	8	10	0	3	1	2	1	1	0	4	1	3	1	1	2	2	1	1	2	4	3			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr14:19378056C>A	ENST00000550708.1	+	1	535	c.463C>A	c.(463-465)Ctc>Atc	p.L155I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTGGGCATCTCTGTGCCAA	0.473													34	436					3.62531e-18	2.16919e-17	1	0	A	19378056	C	A	19378056	3	1	366	1	0	0	0	0	1	0	0	0	10998	913	32	2	465	2	OR11H12	14	19378056	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08		19378056	87971484	69	71301											
OXA1L	5018	broad.mit.edu	37	chr14	23240279	23240279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttttccctggtccaagtatCctgtctccggattccagcag	6	13	9	13	1	1	0	0	0	1	0	6	1	5	1	5	2	1	3	5	2	2	4			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr14:23240279C>A	ENST00000358043.5	+	8	1262	c.944C>A	c.(943-945)tCc>tAc	p.S315Y	OXA1L_ENST00000604262.1_Missense_Mutation_p.S331Y|OXA1L_ENST00000412791.1_Missense_Mutation_p.S331Y|OXA1L_ENST00000285848.5_Missense_Mutation_p.S391Y			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	331					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		GTCCAAGTATCCTGTCTCCGG	0.507													51	105					2.69953e-25	1.64241e-24	1	0	A	23240279	C	A	23240279	3	1	366	1	0	0	0	0	1	0	0	0	11399	855	30	2	1202	2	OXA1L	14	23240279	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	3862223	23240279	84109261	70	71302											
KIAA1737	85457	broad.mit.edu	37	chr14	77579969	77579969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagccccacatccaggcaaaAggggcctttcccttggccca	9	7	9	16	0	0	0	0	0	0	0	2	0	2	0	6	4	1	1	6	4	3	3			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr14:77579969A>G	ENST00000361786.2	+	4	825	c.508A>G	c.(508-510)Agg>Ggg	p.R170G	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	170										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TCCAGGCAAAAGGGGCCTTTC	0.488													3	105					0	0	0	0	G	77579969	A	G	77579969	3	3	366	1	0	0	0	0	1	0	0	0	8306	63	3	5	518	5	KIAA1737	14	77579969	Missense_Mutation	SNP	A	TCGA-D6-6823-01A-11D-1912-08	54339690	77579969	29769571	71	71303											
JAG2	3714	broad.mit.edu	37	chr14	105613864	105613864	+	Splice_Site	DEL	T	T	-																															gagggttgcagtcgttggtaTctggtttgggagaagagaac																										TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr14:105613864delT	ENST00000331782.3	-	19	2769	c.2365_splice	c.e19-1	p.N789_splice	JAG2_ENST00000347004.2_Splice_Site_p.N751_splice	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	789	EGF-like 15; calcium-binding (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GTCGTTGGTATCTGGTTTGGG	0.652													12	28	---	---	---	---					-	105613864	T	-	105613864	8	5	366	1	0	1	0	1	0	0	1	0	7988	1449	50	0	1382	0	JAG2	14	105613864	Splice_Site	DEL	T	TCGA-D6-6823-01A-11D-1912-08	28033895	105613864	1735676	72	71304											
FAM98B	283742	broad.mit.edu	37	chr15	38773633	38773633	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaagtagtggcaccagccgGgagaagaccgcatgtgccat	12	5	13	11	2	0	2	0	0	0	2	0	3	0	2	4	2	2	3	4	2	3	1			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr15:38773633G>A	ENST00000397609.2	+	7	905	c.870G>A	c.(868-870)cgG>cgA	p.R290R	FAM98B_ENST00000491535.1_Silent_p.R290R	NM_173611.2	NP_775882.2	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	290						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GCACCAGCCGGGAGAAGACCG	0.398													11	48					0	0	0	0	A	38773633	G	A	38773633	2	1	366	1	0	0	0	0	0	0	0	1	5702	1219	43	4		4	FAM98B	15	38773633	Silent	SNP	G	TCGA-D6-6823-01A-11D-1912-08		38773633	63757759	73	71305											
FBN1	2200	broad.mit.edu	37	chr15	48784730	48784730	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgaatgaccccctagtgtTaacacacaggccatttttac	11	12	6	12	0	0	2	0	2	0	0	0	2	0	2	3	1	2	1	3	1	4	6			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr15:48784730T>G	ENST00000316623.5	-	24	3237	c.2782A>C	c.(2782-2784)Aac>Cac	p.N928H		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	928	EGF-like 14; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCCCTAGTGTTAACACACAGG	0.348													8	36					0	0	0	0	G	48784730	T	G	48784730	3	3	366	1	0	0	0	0	1	0	0	0	5747	1754	61	5	6005	5	FBN1	15	48784730	Missense_Mutation	SNP	T	TCGA-D6-6823-01A-11D-1912-08	10011097	48784730	53746662	74	71306											
FGF7	2252	broad.mit.edu	37	chr15	49776611	49776611	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacggaggggaaatgtttgtTgccttaaatcaaaaggggat	14	10	13	4	1	1	0	1	0	0	0	1	3	1	3	1	5	2	2	1	5	6	3			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr15:49776611T>G	ENST00000267843.4	+	4	1106	c.495T>G	c.(493-495)gtT>gtG	p.V165V	FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	165					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	p.V165V(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	AAATGTTTGTTGCCTTAAATC	0.358													3	32					0	0	0	0	G	49776611	T	G	49776611	2	3	366	1	0	0	0	0	0	0	0	1	5902	1799	63	5		5	FGF7	15	49776611	Silent	SNP	T	TCGA-D6-6823-01A-11D-1912-08	991881	49776611	52754781	75	71307											
SNX33	257364	broad.mit.edu	37	chr15	75941779	75941779	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtagctttgaggaggaTgatgatgatgactgggatga	11	10	17	3	0	0	6	0	6	0	0	0	9	0	9	0	4	1	2	0	4	1	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr15:75941779T>G	ENST00000308527.5	+	1	1533	c.336T>G	c.(334-336)gaT>gaG	p.D112E		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	112	Poly-Asp.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TTGAGGAGGATGATGATGATG	0.622													3	100					0	0	0	0	G	75941779	T	G	75941779	3	3	366	1	0	0	0	0	1	0	0	0	14991	1461	51	5	338	5	SNX33	15	75941779	Missense_Mutation	SNP	T	TCGA-D6-6823-01A-11D-1912-08	26165168	75941779	26589613	76	71308											
NTRK3	4916	broad.mit.edu	37	chr15	88678559	88678559	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttggtggggggttgccaCgcaccacaaactcgatgcag	8	7	15	11	3	0	0	0	0	0	0	1	1	0	0	2	4	3	4	2	4	1	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr15:88678559C>A	ENST00000394480.1	-	10	1298	c.977G>T	c.(976-978)cGt>cTt	p.R326L	NTRK3_ENST00000540489.2_Missense_Mutation_p.R326L|NTRK3_ENST00000355254.2_Missense_Mutation_p.R326L|NTRK3_ENST00000557856.1_Missense_Mutation_p.R326L|NTRK3_ENST00000357724.2_Missense_Mutation_p.R326L|NTRK3_ENST00000360948.2_Missense_Mutation_p.R326L|NTRK3_ENST00000317501.3_Missense_Mutation_p.R326L|NTRK3_ENST00000542733.2_Missense_Mutation_p.R228L|NTRK3_ENST00000558676.1_Missense_Mutation_p.R326L	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	326	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGGTTGCCACGCACCACAAA	0.592			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			22	38					5.26018e-13	3.09623e-12	1	0	A	88678559	C	A	88678559	3	1	366	1	0	0	0	0	1	0	0	0	10779	536	19	3	1848	3	NTRK3	15	88678559	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	12736780	88678559	13852833	77	71309											
CDH8	1006	broad.mit.edu	37	chr16	61687669	61687669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgaccctcggccttcatagCcatatatctgaatggagtca	10	11	8	12	1	3	2	2	2	1	0	4	3	3	3	3	2	1	0	3	2	4	4			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr16:61687669C>A	ENST00000577390.1	-	12	3197	c.2243G>T	c.(2242-2244)gGc>gTc	p.G748V	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	748					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCCTTCATAGCCATATATCTG	0.502													14	45					6.72482e-11	3.86411e-10	1	0	A	61687669	C	A	61687669	3	1	366	1	0	0	0	0	1	0	0	0	3145	739	26	4	160	4	CDH8	16	61687669	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08		61687669	28667084	78	71310											
CDH16	1014	broad.mit.edu	37	chr16	66947070	66947070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggatgctgactgtggggtCacggggagggcagataggca	9	6	20	6	1	1	2	1	1	0	1	1	4	1	4	0	7	1	3	0	7	1	1			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr16:66947070C>T	ENST00000299752.4	-	9	1211	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	CDH16_ENST00000565796.1_Missense_Mutation_p.D340N|CDH16_ENST00000570262.1_Missense_Mutation_p.D260N|CDH16_ENST00000394055.3_Missense_Mutation_p.D340N|CDH16_ENST00000568632.1_Missense_Mutation_p.D243N	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	340					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACTGTGGGGTCACGGGGAGGG	0.587													33	118					0	0	0	0	T	66947070	C	T	66947070	3	4	366	1	0	0	0	0	1	0	0	0	3130	826	29	2	1511	2	CDH16	16	66947070	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	5259401	66947070	23407683	79	71311											
CDH3	1001	broad.mit.edu	37	chr16	68732227	68732227	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctccgaccaagaccaagAttacgattatctgaacgagt	13	8	8	12	4	1	3	0	1	1	2	2	6	2	3	4	0	2	0	4	0	5	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr16:68732227A>G	ENST00000264012.4	+	16	2958	c.2414A>G	c.(2413-2415)gAt>gGt	p.D805G	CDH3_ENST00000581171.1_Missense_Mutation_p.D750G|CDH3_ENST00000429102.2_3'UTR	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	805					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CAAGACCAAGATTACGATTAT	0.642													34	112					0	0	0	0	G	68732227	A	G	68732227	3	3	366	1	0	0	0	0	1	0	0	0	3140	333	12	5	2476	5	CDH3	16	68732227	Missense_Mutation	SNP	A	TCGA-D6-6823-01A-11D-1912-08	1785157	68732227	21622526	80	71312											
PKD1L2	114780	broad.mit.edu	37	chr16	81145910	81145910	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttcactgtggacaggAgtaccaggaaggcaatgatg	14	7	13	7	0	1	1	1	1	0	0	1	4	1	4	1	4	2	3	1	4	4	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr16:81145910A>T	ENST00000533478.1	-	0	4896				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTGGACAGGAGTACCAGGAA	0.547													11	82					0	0	0	0	T	81145910	A	T	81145910	1	4	366	0	1	0	0	0	0	0	0	0	12037	304	11	5		5	PKD1L2	16	81145910	RNA	SNP	A	TCGA-D6-6823-01A-11D-1912-08	12413683	81145910	9208843	81	71313											
FXR2	9513	broad.mit.edu	37	chr17	7497597	7497597	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcattatcaccttccactcGaaccctcaccacaccagatt	11	10	3	17	1	3	1	3	0	0	1	5	2	4	1	5	0	1	0	5	0	2	3			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:7497597G>A	ENST00000250113.7	-	10	1313	c.979C>T	c.(979-981)Cga>Tga	p.R327*		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	327						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CCTTCCACTCGAACCCTCACC	0.468													6	24					0	0	0	0	A	7497597	G	A	7497597	4	1	366	1	0	0	0	0	0	1	0	0	6164	1066	37	1	974	1	FXR2	17	7497597	Nonsense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08		7497597	73697613	82	71314											
TP53	7157	broad.mit.edu	37	chr17	7578520	7578520	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagggcaggtcttggccAgttggcaaaacatcttgttg	9	10	13	9	0	2	0	0	0	2	0	2	0	2	0	1	4	1	5	1	4	2	4			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:7578520A>T	ENST00000420246.2	-	5	542	c.410T>A	c.(409-411)cTg>cAg	p.L137Q	TP53_ENST00000455263.2_Missense_Mutation_p.L137Q|TP53_ENST00000269305.4_Missense_Mutation_p.L137Q|TP53_ENST00000413465.2_Missense_Mutation_p.L137Q|TP53_ENST00000445888.2_Missense_Mutation_p.L137Q|TP53_ENST00000359597.4_Missense_Mutation_p.L137Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	137	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L137P(3)|p.C135fs*9(3)|p.N131fs*27(2)|p.L137Q(2)|p.V73fs*9(1)|p.L137_W146del10(1)|p.C135_T140delCQLAKT(1)|p.C42fs*9(1)|p.K132_A138delKMFCQLA(1)|p.F134_T140>S(1)|p.C3fs*9(1)|p.Q136_K139delQLAK(1)|p.L137_A138insX(1)|p.C135_A138delCQLA(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGTCTTGGCCAGTTGGCAAAA	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	21					0	0	0	0	T	7578520	A	T	7578520	3	4	366	1	0	0	0	0	1	0	0	0	16476	188	7	5	888	5	TP53	17	7578520	Missense_Mutation	SNP	A	TCGA-D6-6823-01A-11D-1912-08	80923	7578520	73616690	83	71315											
BRCA1	672	broad.mit.edu	37	chr17	41256883	41256883	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgggatattcaacacttAcactccaaacctgtgtcaag	12	12	6	11	0	3	0	2	0	1	0	4	1	4	1	2	1	3	0	2	1	5	4			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:41256883A>C	ENST00000309486.4	-	4	441		c.e4+1		BRCA1_ENST00000468300.1_Splice_Site|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Splice_Site|BRCA1_ENST00000352993.3_Splice_Site|BRCA1_ENST00000491747.2_Splice_Site|BRCA1_ENST00000351666.3_Splice_Site|BRCA1_ENST00000354071.3_Splice_Site|BRCA1_ENST00000346315.3_Splice_Site|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Splice_Site|BRCA1_ENST00000493795.1_Splice_Site	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset						androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCAACACTTACACTCCAAAC	0.373			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			28	47					0	0	0	0	C	41256883	A	C	41256883	5	2	366	1	0	0	0	0	0	0	1	0	1506	405	14	5	5434	5	BRCA1	17	41256883	Splice_Site	SNP	A	TCGA-D6-6823-01A-11D-1912-08	33678363	41256883	39938327	84	71316											
UBTF	7343	broad.mit.edu	37	chr17	42284865	42284865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcgctgctggactcagagGagtcgccgccatcttcagag	7	8	12	14	3	3	2	2	0	1	2	5	4	3	4	3	2	1	2	3	2	0	1			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:42284865G>A	ENST00000302904.4	-	20	2618	c.2126C>T	c.(2125-2127)tCc>tTc	p.S709F	UBTF_ENST00000343638.5_Missense_Mutation_p.S672F|UBTF_ENST00000393606.3_Missense_Mutation_p.S672F|UBTF_ENST00000529383.1_Missense_Mutation_p.S709F|UBTF_ENST00000533177.1_Missense_Mutation_p.S672F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.S672F|UBTF_ENST00000436088.1_Missense_Mutation_p.S709F|UBTF_ENST00000527034.1_Missense_Mutation_p.P671S			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	709	Asp/Glu/Ser-rich (acidic).				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGACTCAGAGGAGTCGCCGCC	0.607													17	27					0	0	0	0	A	42284865	G	A	42284865	3	1	366	1	0	0	0	0	1	0	0	0	17005	1174	41	2	176	2	UBTF	17	42284865	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	1027982	42284865	38910345	85	71317											
ITGB3	3690	broad.mit.edu	37	chr17	45360736	45360736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggccctgcctctgggctCacctcgctgtgacctgaagg	6	8	12	15	1	2	2	1	2	1	0	3	2	2	2	4	3	1	2	4	3	1	0			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:45360736C>T	ENST00000559488.1	+	3	198	c.182C>T	c.(181-183)tCa>tTa	p.S61L	ITGB3_ENST00000571680.1_Missense_Mutation_p.S61L|ITGB3_ENST00000435993.2_Missense_Mutation_p.S14L|ITGB3_ENST00000560629.1_Silent_p.L49L	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	61					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CCTCTGGGCTCACCTCGCTGT	0.567													21	38					0	0	0	0	T	45360736	C	T	45360736	3	4	366	1	0	0	0	0	1	0	0	0	7948	838	29	2	192	2	ITGB3	17	45360736	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	3075871	45360736	35834474	86	71318											
IGF2BP1	10642	broad.mit.edu	37	chr17	47076479	47076479	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaatctttagggaaagtaGaattacaaggaaaacgctta	17	12	8	4	1	1	1	0	0	1	1	1	3	1	3	0	2	2	2	0	2	10	7			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:47076479G>C	ENST00000290341.3	+	2	518	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E62Q|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	62	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGGAAAGTAGAATTACAAGG	0.468													6	28					0	0	0	0	C	47076479	G	C	47076479	3	2	366	1	0	0	0	0	1	0	0	0	7626	943	33	2	190	2	IGF2BP1	17	47076479	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	1715743	47076479	34118731	87	71319											
MKS1	54903	broad.mit.edu	37	chr17	56291137	56291137	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcctcacctgtagggtccTttgaggcccgtgaagtcagg	6	11	12	12	1	3	2	2	2	1	0	5	2	4	2	4	3	0	1	4	3	2	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:56291137T>C	ENST00000393119.2	-	7	812	c.738A>G	c.(736-738)aaA>aaG	p.K246K	MKS1_ENST00000546108.1_Silent_p.K43K|MKS1_ENST00000313863.6_Silent_p.K246K|MKS1_ENST00000337050.7_Silent_p.K246K|MKS1_ENST00000537529.2_Silent_p.K236K	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	246					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGTAGGGTCCTTTGAGGCCCG	0.473													32	65					0	0	0	0	C	56291137	T	C	56291137	2	2	366	1	0	0	0	0	0	0	0	1	9678	1606	56	5		5	MKS1	17	56291137	Silent	SNP	T	TCGA-D6-6823-01A-11D-1912-08	9214658	56291137	24904073	88	71320											
TTYH2	94015	broad.mit.edu	37	chr17	72246094	72246094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgaccaccttccagcGcgcacttaccaccatgcaga	10	6	7	18	2	0	2	0	1	0	1	1	3	1	2	6	0	3	2	6	0	1	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:72246094G>A	ENST00000269346.4	+	9	1024	c.950G>A	c.(949-951)cGc>cAc	p.R317H	TTYH2_ENST00000441391.2_5'UTR|TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Missense_Mutation_p.R296H	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	317						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ACCTTCCAGCGCGCACTTACC	0.642													21	83					0	0	0	0	A	72246094	G	A	72246094	3	1	366	1	0	0	0	0	1	0	0	0	16836	1087	38	1	984	1	TTYH2	17	72246094	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	15954957	72246094	8949116	89	71321											
CETN1	1068	broad.mit.edu	37	chr18	580762	580762	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgatgacgatgagacCgggaagatctcgttcaaaaa	13	10	10	8	3	3	4	1	3	2	2	4	7	3	5	1	1	0	1	1	1	3	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr18:580762C>T	ENST00000327228.3	+	1	396	c.354C>T	c.(352-354)acC>acT	p.T118T		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	118	EF-hand 3.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						ACGATGAGACCGGGAAGATCT	0.537													23	39					0	0	0	0	T	580762	C	T	580762	2	4	366	1	0	0	0	0	0	0	0	1	3303	639	23	1		1	CETN1	18	580762	Silent	SNP	C	TCGA-D6-6823-01A-11D-1912-08		580762	77496486	90	71322											
ZNF556	80032	broad.mit.edu	37	chr19	2877900	2877900	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacaacggggagaaaccctAtaagtgtggaaaatgcggga	15	6	13	7	2	1	1	1	0	0	1	1	4	1	3	1	4	3	0	1	4	6	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:2877900A>G	ENST00000586426.1	+	4	1028	c.941A>G	c.(940-942)tAt>tGt	p.Y314C	ZNF556_ENST00000307635.2_Missense_Mutation_p.Y315C			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		GAGAAACCCTATAAGTGTGGA	0.527													6	36					0	0	0	0	G	2877900	A	G	2877900	3	3	366	1	0	0	0	0	1	0	0	0	18082	449	16	5	958	5	ZNF556	19	2877900	Missense_Mutation	SNP	A	TCGA-D6-6823-01A-11D-1912-08		2877900	56251083	91	71323											
TLE2	7089	broad.mit.edu	37	chr19	3002388	3002388	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacagcacgcagctctcGtggaggtgcagctggtattt	8	9	15	9	2	1	0	0	0	1	0	2	2	1	2	0	4	4	6	0	4	1	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:3002388G>C	ENST00000262953.6	-	18	2272	c.2010C>G	c.(2008-2010)caC>caG	p.H670Q	TLE2_ENST00000590536.1_Missense_Mutation_p.H671Q|TLE2_ENST00000591529.1_Missense_Mutation_p.H684Q|TLE2_ENST00000455444.2_Missense_Mutation_p.H548Q|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_Missense_Mutation_p.H337Q|TLE2_ENST00000443826.3_Missense_Mutation_p.H548Q|TLE2_ENST00000426948.2_Missense_Mutation_p.H684Q	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	670					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		CGCAGCTCTCGTGGAGGTGCA	0.612													7	27					0	0	0	0	C	3002388	G	C	3002388	3	2	366	1	0	0	0	0	1	0	0	0	16033	1136	40	3	233	3	TLE2	19	3002388	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	124488	3002388	56126595	92	71324											
C3	718	broad.mit.edu	37	chr19	6697422	6697422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagcagccttgacttccActtcctgcaggccggtcttt	7	11	9	14	1	1	2	0	1	1	1	3	2	3	2	4	2	3	2	4	2	0	4			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:6697422A>G	ENST00000245907.6	-	21	2821	c.2729T>C	c.(2728-2730)gTg>gCg	p.V910A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	910					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTTGACTTCCACTTCCTGCAG	0.567													29	57					0	0	0	0	G	6697422	A	G	6697422	3	3	366	1	0	0	0	0	1	0	0	0	2224	159	6	5	2346	5	C3	19	6697422	Missense_Mutation	SNP	A	TCGA-D6-6823-01A-11D-1912-08	3695034	6697422	52431561	93	71325											
ADAMTS10	81794	broad.mit.edu	37	chr19	8662012	8662012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtgggtgatctccagaGtgggctggggatggacagag	8	8	19	6	0	1	3	0	1	1	2	2	5	1	5	1	6	0	1	1	6	0	0			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:8662012G>A	ENST00000270328.4	-	7	1165	c.899C>T	c.(898-900)aCt>aTt	p.T300I	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.T300I			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	300	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GATCTCCAGAGTGGGCTGGGG	0.602													26	65					0	0	0	0	A	8662012	G	A	8662012	3	1	366	1	0	0	0	0	1	0	0	0	256	1029	36	4	2488	4	ADAMTS10	19	8662012	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	1964590	8662012	50466971	94	71326											
CHERP	10523	broad.mit.edu	37	chr19	16638963	16638963	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttggtgggatctggtcGtgtggcccggggccccgggg	1	11	20	9	3	1	0	0	0	1	0	2	1	1	1	3	8	0	1	3	8	0	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:16638963G>A	ENST00000546361.2	-	9	1384	c.1233C>T	c.(1231-1233)caC>caT	p.H411H	CHERP_ENST00000198939.6_Silent_p.H422H|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	411	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGATCTGGTCGTGTggcccgg	0.647													27	71					0	0	0	0	A	16638963	G	A	16638963	2	1	366	1	0	0	0	0	0	0	0	1	3365	1136	40	1		1	CHERP	19	16638963	Silent	SNP	G	TCGA-D6-6823-01A-11D-1912-08	7976951	16638963	42490020	95	71327											
ZNF567	163081	broad.mit.edu	37	chr19	37210259	37210259	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccagcacagtcatttggAtataatgactgtgagaaatc	14	11	8	8	0	1	2	1	2	0	1	3	4	2	3	1	1	1	1	1	1	3	3			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:37210259A>G	ENST00000585696.1	+	3	1770	c.540A>G	c.(538-540)ggA>ggG	p.G180G	ZNF567_ENST00000536254.2_Silent_p.G211G|ZNF567_ENST00000392163.2_Silent_p.G180G|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Silent_p.G180G|ZNF567_ENST00000360729.4_Silent_p.G180G			Q8N184	ZN567_HUMAN	zinc finger protein 567	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTCATTTGGATATAATGACT	0.368													16	29					0	0	0	0	G	37210259	A	G	37210259	2	3	366	1	0	0	0	0	0	0	0	1	18093	320	12	5		5	ZNF567	19	37210259	Silent	SNP	A	TCGA-D6-6823-01A-11D-1912-08	20571296	37210259	21918724	96	71328											
LRFN1	57622	broad.mit.edu	37	chr19	39804929	39804929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccagcgtcccgtccccccGgacccgggtccggctggagt	4	6	13	18	5	0	0	0	0	0	0	4	2	4	2	7	4	1	1	7	4	0	0			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:39804929G>A	ENST00000248668.4	-	1	1047	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	350	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCGTCCCCCCGGACCCGGGTC	0.692													9	13					0	0	0	0	A	39804929	G	A	39804929	3	1	366	1	0	0	0	0	1	0	0	0	9001	1115	39	1	1275	1	LRFN1	19	39804929	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	2594670	39804929	19324054	97	71329											
ZNF546	339327	broad.mit.edu	37	chr19	40520758	40520758	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgagaaaccctacatatgTaacgaatgtggaaaagcctt	15	9	10	7	1	0	1	0	1	0	1	0	4	0	2	2	2	4	1	2	2	7	4			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:40520758T>C	ENST00000347077.4	+	7	1797	c.1581T>C	c.(1579-1581)tgT>tgC	p.C527C	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.C501C	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCTACATATGTAACGAATGTG	0.403													23	41					0	0	0	0	C	40520758	T	C	40520758	2	2	366	1	0	0	0	0	0	0	0	1	18073	1644	57	5		5	ZNF546	19	40520758	Silent	SNP	T	TCGA-D6-6823-01A-11D-1912-08	715829	40520758	18608225	98	71330											
MBOAT7	79143	broad.mit.edu	37	chr19	54692110	54692110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcccaggtcccgaggatgGtgaccagagaatgcaaagtg	11	5	16	9	1	0	2	0	1	0	1	1	5	1	3	3	4	1	1	3	4	2	0			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:54692110G>T	ENST00000245615.1	-	3	647	c.167C>A	c.(166-168)aCc>aAc	p.T56N	MBOAT7_ENST00000391754.1_Missense_Mutation_p.T56N|MBOAT7_ENST00000431666.2_Missense_Mutation_p.H25Q|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Missense_Mutation_p.H25Q	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	56					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCGAGGATGGTGACCAGAGA	0.642													21	37					8.04996e-18	4.77719e-17	1	0	T	54692110	G	T	54692110	3	4	366	1	0	0	0	0	1	0	0	0	9427	1261	44	4	1279	4	MBOAT7	19	54692110	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08	14171352	54692110	4436873	99	71331											
MZF1	7593	broad.mit.edu	37	chr19	59073795	59073796	+	Frame_Shift_Ins	INS	-	-	C																															ttttcgccggtgtgtgtcctINSctgatgacgcgtgagcttga																										TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:59073795_59073796insC	ENST00000215057.2	-	6	2408_2409	c.1848_1849insG	c.(1846-1851)caggacfs	p.D617fs	MZF1_ENST00000599369.1_Frame_Shift_Ins_p.D617fs|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	617					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GTGTGTGTCCTCTGATGACGCG	0.663													9	20	---	---	---	---					C	59073796	-	C	59073795	7	5	366	1	0	1	1	0	0	0	0	0	10178	1550	54	0	359	0	MZF1	19	59073795	Frame_Shift_Ins	INS	-	TCGA-D6-6823-01A-11D-1912-08	4381685	59073795	55188	100	71332											
CDH26	60437	broad.mit.edu	37	chr20	58560126	58560126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcactgtcatccacgaccaCcgttcacgtggatgtgcaag	9	9	10	13	3	3	0	3	0	0	0	4	2	4	1	3	1	1	2	3	1	1	1			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr20:58560126C>T	ENST00000348616.4	+	7	1079	c.779C>T	c.(778-780)aCc>aTc	p.T260I	CDH26_ENST00000244047.5_Missense_Mutation_p.T260I	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	260	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			TCCACGACCACCGTTCACGTG	0.547													8	42					0	0	0	0	T	58560126	C	T	58560126	3	4	366	1	0	0	0	0	1	0	0	0	3139	507	18	4	805	4	CDH26	20	58560126	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08		58560126	4465394	101	71333											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768590	31768590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagcagacctgctgggaGcccaccagctgccagacatc	9	6	11	15	0	1	2	1	0	0	2	2	3	1	3	4	1	5	3	4	1	0	0			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr21:31768590G>T	ENST00000355459.2	+	1	199	c.186G>T	c.(184-186)gaG>gaT	p.E62D		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	62	5 X 10 AA approximate repeats.					intermediate filament		p.E62D(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGCTGGGAGCCCACCAGCT	0.612													19	43					1.33834e-09	7.51129e-09	1	0	T	31768590	G	T	31768590	3	4	366	1	0	0	0	0	1	0	0	0	8574	962	34	4	188	4	KRTAP13-1	21	31768590	Missense_Mutation	SNP	G	TCGA-D6-6823-01A-11D-1912-08		31768590	16361305	102	71334											
PRDM15	63977	broad.mit.edu	37	chr21	43279700	43279700	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagctcacggcggtcactcaCcttgccctgcttaacacaaa	10	8	8	15	2	3	0	3	0	0	0	3	1	3	0	2	2	4	2	2	2	2	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr21:43279700C>A	ENST00000422911.1	-	3	344		c.e3+1		PRDM15_ENST00000269844.3_Splice_Site|PRDM15_ENST00000447207.2_Splice_Site|PRDM15_ENST00000538201.1_Splice_Site|PRDM15_ENST00000398548.1_Splice_Site			P57071	PRD15_HUMAN	PR domain containing 15						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGGTCACTCACCTTGCCCTGC	0.612													10	12					3.86212e-05	0.000205601	1	0	A	43279700	C	A	43279700	5	1	366	1	0	0	0	0	0	0	1	0	12536	521	18	4	3583	4	PRDM15	21	43279700	Splice_Site	SNP	C	TCGA-D6-6823-01A-11D-1912-08	11511110	43279700	4850195	103	71335											
SCARF2	91179	broad.mit.edu	37	chr22	20781751	20781752	+	Frame_Shift_Ins	INS	-	-	GGACC																															gaggagaaggaggcccgagaINSggaccaggatggtgagggct																										TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr22:20781751_20781752insGGACC	ENST00000405555.3	-	10	1696_1697	c.1626_1627insGGTCC	c.(1624-1629)tcctcgfs	p.S543fs	SCARF2_ENST00000266214.5_Frame_Shift_Ins_p.S548fs	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	543					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGGCCCGAGAGGACCAGGATG	0.599													9	82	---	---	---	---					GGACC	20781752	-	GGACC	20781751	7	5	366	1	0	1	1	0	0	0	0	0	13970	304	11	0	978	0	SCARF2	22	20781751	Frame_Shift_Ins	INS	-	TCGA-D6-6823-01A-11D-1912-08		20781751	30522815	104	71336											
TFIP11	24144	broad.mit.edu	37	chr22	26902303	26902303	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggccccgtccagggacGtagcccatcttctgaagaag	9	6	12	14	3	2	2	0	1	2	1	3	4	3	3	5	2	1	1	5	2	3	2			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr22:26902303G>A	ENST00000407690.1	-	6	769	c.486C>T	c.(484-486)taC>taT	p.Y162Y	TFIP11_ENST00000407148.1_Silent_p.Y162Y|TFIP11_ENST00000407431.1_Silent_p.Y162Y|TFIP11_ENST00000405938.1_Silent_p.Y162Y	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	162	G-patch.				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GTCCAGGGACGTAGCCCATCT	0.527													14	86					0	0	0	0	A	26902303	G	A	26902303	2	1	366	1	0	0	0	0	0	0	0	1	15901	1140	40	1		1	TFIP11	22	26902303	Silent	SNP	G	TCGA-D6-6823-01A-11D-1912-08	6120552	26902303	24402263	105	71337											
FBLN1	2192	broad.mit.edu	37	chr22	45944530	45944530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcccaccgggggccacatCtgctcctaccgctgcatcaa	7	7	9	18	2	2	0	1	0	1	0	3	0	3	0	5	2	4	3	5	2	2	1			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr22:45944530C>G	ENST00000348697.2	+	13	1626	c.1479C>G	c.(1477-1479)atC>atG	p.I493M	FBLN1_ENST00000327858.6_Missense_Mutation_p.I493M|FBLN1_ENST00000262722.7_Missense_Mutation_p.I493M|FBLN1_ENST00000402984.3_Missense_Mutation_p.I531M|FBLN1_ENST00000442170.2_Missense_Mutation_p.I493M|FBLN1_ENST00000340923.5_Missense_Mutation_p.I493M|FBLN1_ENST00000476366.1_Intron			P23142	FBLN1_HUMAN	fibulin 1	493	EGF-like 8; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGGGCCACATCTGCTCCTACC	0.652													13	38					0	0	0	0	G	45944530	C	G	45944530	3	3	366	1	0	0	0	0	1	0	0	0	5743	903	32	2	1529	2	FBLN1	22	45944530	Missense_Mutation	SNP	C	TCGA-D6-6823-01A-11D-1912-08	19042227	45944530	5360036	106	71338											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29973844	29973844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcggccacagacaaaatcGagcagggagcagaatccaga	16	2	12	11	2	0	3	0	0	0	3	2	5	1	4	2	2	3	2	2	2	3	0			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chrX:29973844G>A	ENST00000378993.1	+	11	2671	c.1998G>A	c.(1996-1998)tcG>tcA	p.S666S	IL1RAPL1_ENST00000302196.4_Silent_p.S666S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	666					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGACAAAATCGAGCAGGGAGC	0.527													7	7					0	0	0	0	A	29973844	G	A	29973844	2	1	366	1	0	0	0	0	0	0	0	1	7714	1045	37	1		1	IL1RAPL1	23	29973844	Silent	SNP	G	TCGA-D6-6823-01A-11D-1912-08		29973844	125296716	107	71339											
LUZP1	7798	broad.mit.edu	37	chr1	23419092	23419092	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaacagccagagtttgcagCctgagttacttgacttccgt	10	11	10	10	1	0	4	0	2	0	2	1	4	1	4	3	0	5	3	3	0	2	4			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:23419092C>A	ENST00000302291.4	-	4	2464	c.1663G>T	c.(1663-1665)Gct>Tct	p.A555S	LUZP1_ENST00000374623.3_Missense_Mutation_p.A555S|LUZP1_ENST00000418342.1_Missense_Mutation_p.A555S|LUZP1_ENST00000314174.5_Missense_Mutation_p.A555S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	555						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GAGTTTGCAGCCTGAGTTACT	0.537													4	97					0.000602214	0.000795518	1	0	A	23419092	C	A	23419092	3	1	367	1	0	0	0	0	1	0	0	0	9150	739	26	4	1575	4	LUZP1	1	23419092	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08		23419092	225831529	1	71340											
EXTL1	2134	broad.mit.edu	37	chr1	26349468	26349468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggaaccatctctgagactCatcgcaggatcctggcttcc	8	11	9	13	1	2	1	1	1	1	1	6	4	4	3	3	3	1	2	3	3	1	2			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:26349468C>G	ENST00000374280.3	+	1	1198	c.331C>G	c.(331-333)Cat>Gat	p.H111D		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	111					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGAGACTCATCGCAGGAT	0.577													5	58					0	0	0	0	G	26349468	C	G	26349468	3	3	367	1	0	0	0	0	1	0	0	0	5363	826	29	2	333	2	EXTL1	1	26349468	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08	2930376	26349468	222901153	2	71341											
GBP4	115361	broad.mit.edu	37	chr1	89655859	89655859	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcctcagttgctgggcCatctgctggctatagtggtc	5	11	15	10	0	2	0	1	0	1	0	3	1	2	1	2	4	3	4	2	4	2	3			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:89655859C>G	ENST00000355754.6	-	7	1156	c.1059G>C	c.(1057-1059)atG>atC	p.M353I		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	353						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GTTGCTGGGCCATCTGCTGGC	0.602													4	57					0	0	0	0	G	89655859	C	G	89655859	3	3	367	1	0	0	0	0	1	0	0	0	6325	594	21	4	883	4	GBP4	1	89655859	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08	63306391	89655859	159594762	3	71342											
DENND2D	79961	broad.mit.edu	37	chr1	111742266	111742266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgggaaattggtaggtgatTataggctcgtaatcatcctc	10	14	11	6	1	1	1	1	1	0	0	4	2	2	2	1	4	0	3	1	4	5	6			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:111742266T>C	ENST00000357640.4	-	2	451	c.222A>G	c.(220-222)atA>atG	p.I74M	DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Missense_Mutation_p.I71M	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	74	UDENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GGTAGGTGATTATAGGCTCGT	0.522													11	156					0	0	0	0	C	111742266	T	C	111742266	3	2	367	1	0	0	0	0	1	0	0	0	4468	1744	61	5	1237	5	DENND2D	1	111742266	Missense_Mutation	SNP	T	TCGA-D6-6824-01A-11D-1912-08	22086407	111742266	137508355	4	71343											
SPTA1	6708	broad.mit.edu	37	chr1	158627412	158627412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttgtcgcctagcagctCgagcacggagagactccata	10	9	10	12	3	0	1	0	0	0	1	3	4	1	2	2	1	3	3	2	1	2	4			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:158627412C>A	ENST00000368148.3	-	19	2840	c.2660G>T	c.(2659-2661)cGa>cTa	p.R887L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R887L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	887					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTAGCAGCTCGAGCACGGAG	0.473													6	140					0.00198382	0.00249728	1	0	A	158627412	C	A	158627412	3	1	367	1	0	0	0	0	1	0	0	0	15206	884	31	3	4735	3	SPTA1	1	158627412	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08	46885146	158627412	90623209	5	71344											
ATF6	22926	broad.mit.edu	37	chr1	161928411	161928411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccacagaggcaacccaCgttgtcagcaccatccctga	11	5	9	16	1	1	2	1	1	0	1	2	2	2	2	4	1	3	4	4	1	1	1			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:161928411C>G	ENST00000367942.3	+	16	2047	c.1980C>G	c.(1978-1980)caC>caG	p.H660Q		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	660					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AGGCAACCCACGTTGTCAGCA	0.522													5	112					0	0	0	0	G	161928411	C	G	161928411	3	3	367	1	0	0	0	0	1	0	0	0	1088	535	19	3	2042	3	ATF6	1	161928411	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08	3300999	161928411	87322210	6	71345											
RYR2	6262	broad.mit.edu	37	chr1	237777923	237777923	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctataccctgctgatcatggGcatctttcacaacgaggact	10	11	8	12	1	3	1	2	1	1	0	3	3	3	2	1	2	3	2	1	2	3	3			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:237777923G>C	ENST00000366574.2	+	37	5812	c.5495G>C	c.(5494-5496)gGc>gCc	p.G1832A	RYR2_ENST00000542537.1_Missense_Mutation_p.G1816A|RYR2_ENST00000360064.6_Missense_Mutation_p.G1830A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1832	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGATCATGGGCATCTTTCAC	0.502													5	160					0	0	0	0	C	237777923	G	C	237777923	3	2	367	1	0	0	0	0	1	0	0	0	13854	1203	42	4	5641	4	RYR2	1	237777923	Missense_Mutation	SNP	G	TCGA-D6-6824-01A-11D-1912-08	75849512	237777923	11472698	7	71346											
TRIM58	25893	broad.mit.edu	37	chr1	248023998	248023998	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggccaacgtggggaaaaAgactgtcatttggaaggtaa	14	7	15	5	1	1	1	1	0	0	1	1	4	1	4	1	6	1	1	1	6	5	2			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:248023998A>G	ENST00000366481.3	+	2	548	c.500A>G	c.(499-501)aAg>aGg	p.K167R		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	167						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTGGGGAAAAAGACTGTCATT	0.478													5	72					0	0	0	0	G	248023998	A	G	248023998	3	3	367	1	0	0	0	0	1	0	0	0	16626	72	3	5	506	5	TRIM58	1	248023998	Missense_Mutation	SNP	A	TCGA-D6-6824-01A-11D-1912-08	10246075	248023998	1226623	8	71347											
OR2L8	391190	broad.mit.edu	37	chr1	248112599	248112599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgctgatgataacagggtCttggatcataggctcgatca	10	12	12	7	1	3	2	2	2	1	0	4	4	3	3	0	3	2	2	0	3	2	3			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:248112599C>T	ENST00000357191.3	+	1	440	c.440C>T	c.(439-441)tCt>tTt	p.S147F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATAACAGGGTCTTGGATCATA	0.438													8	167					0	0	0	0	T	248112599	C	T	248112599	3	4	367	1	0	0	0	0	1	0	0	0	11080	913	32	2	442	2	OR2L8	1	248112599	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08	88601	248112599	1138022	9	71348											
BOLA3	388962	broad.mit.edu	37	chr2	74362737	74362737	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagcgtttggggacagAggtaaatatccgcaatccat	11	10	12	8	2	1	1	1	0	0	1	3	2	3	2	2	4	1	3	2	4	4	3			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:74362737A>G	ENST00000327428.5	-	4	426	c.307T>C	c.(307-309)Tct>Cct	p.S103P	BOLA3_ENST00000295326.4_Missense_Mutation_p.L73P	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3	103						extracellular region				large_intestine(1)|lung(1)	2						TTGGGGACAGAGGTAAATATC	0.428													3	67					0	0	0	0	G	74362737	A	G	74362737	3	3	367	1	0	0	0	0	1	0	0	0	1493	304	11	5	91	5	BOLA3	2	74362737	Missense_Mutation	SNP	A	TCGA-D6-6824-01A-11D-1912-08		74362737	168836636	10	71349											
CD8A	925	broad.mit.edu	37	chr2	87013080	87013080	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggctgggcttgtctcccGatttgaccacaggcctgaaa	10	9	11	11	1	1	2	0	2	1	0	2	3	1	2	3	3	0	2	3	3	2	2			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:87013080G>T	ENST00000409511.2	-	9	1701	c.671C>A	c.(670-672)tCg>tAg	p.S224*	CD8A_ENST00000409781.1_Nonsense_Mutation_p.S187*|CD8A_ENST00000352580.3_Nonsense_Mutation_p.S187*|CD8A_ENST00000456996.2_Nonsense_Mutation_p.S187*|CD8A_ENST00000538832.1_Nonsense_Mutation_p.S265*|CD8A_ENST00000283635.3_Nonsense_Mutation_p.S224*	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	224					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CTTGTCTCCCGATTTGACCAC	0.547													7	163					5.18039e-06	7.19873e-06	1	0	T	87013080	G	T	87013080	4	4	367	1	0	0	0	0	0	1	0	0	3073	1059	37	3	40	3	CD8A	2	87013080	Nonsense_Mutation	SNP	G	TCGA-D6-6824-01A-11D-1912-08	12650343	87013080	156186293	11	71350											
THSD7B	80731	broad.mit.edu	37	chr2	137928343	137928343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcagcgccatgtcctcatgGaatctacagggcctgcaggg	8	7	14	12	1	2	0	1	0	1	0	3	1	3	1	3	4	3	2	3	4	2	1			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:137928343G>A	ENST00000409968.1	+	7	1736	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	THSD7B_ENST00000413152.2_Missense_Mutation_p.E489K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.E520K|THSD7B_ENST00000485379.1_3'UTR					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTCCTCATGGAATCTACAGG	0.473													4	60					0	0	0	0	A	137928343	G	A	137928343	3	1	367	1	0	0	0	0	1	0	0	0	15974	1175	41	2	1487	2	THSD7B	2	137928343	Missense_Mutation	SNP	G	TCGA-D6-6824-01A-11D-1912-08	50915263	137928343	105271030	12	71351											
FAP	2191	broad.mit.edu	37	chr2	163039967	163039967	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcaatgaaacccattTctatgaattttctaaagtaa	15	16	3	7	0	4	2	2	2	2	0	4	2	4	2	1	0	1	1	1	0	7	7			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:163039967T>G	ENST00000188790.4	-	21	2033	c.1826A>C	c.(1825-1827)gAa>gCa	p.E609A	FAP_ENST00000443424.1_Missense_Mutation_p.E584A	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	609					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GAAACCCATTTCTATGAATTT	0.284													4	81					0	0	0	0	G	163039967	T	G	163039967	3	3	367	1	0	0	0	0	1	0	0	0	5718	1783	62	5	480	5	FAP	2	163039967	Missense_Mutation	SNP	T	TCGA-D6-6824-01A-11D-1912-08	25111624	163039967	80159406	13	71352											
ATP5G3	518	broad.mit.edu	37	chr2	176043850	176043850	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaccagaaccagccactccTactgttgcagcacctgcacc	10	6	7	18	0	0	1	0	0	0	1	1	1	1	1	6	0	6	5	6	0	2	2			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:176043850T>C	ENST00000284727.4	-	4	3273	c.249A>G	c.(247-249)gtA>gtG	p.V83V	ATP5G3_ENST00000409194.1_Silent_p.V83V|ATP5G3_ENST00000392541.3_Silent_p.V83V	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	83					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CAGCCACTCCTACTGTTGCAG	0.443													3	67					0	0	0	0	C	176043850	T	C	176043850	2	2	367	1	0	0	0	0	0	0	0	1	1159	1509	53	5		5	ATP5G3	2	176043850	Silent	SNP	T	TCGA-D6-6824-01A-11D-1912-08	13003883	176043850	67155523	14	71353											
TTN	7273	broad.mit.edu	37	chr2	179399269	179399269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagcattcatgatattctCaatgatctgttggttagttt	9	19	7	6	0	4	2	3	2	2	0	5	2	4	2	0	1	1	4	0	1	3	7			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:179399269C>G	ENST00000589042.1	-	358	102297	c.102073G>C	c.(102073-102075)Gag>Cag	p.E34025Q	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32384Q|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25152Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24960Q|TTN_ENST00000359218.5_Missense_Mutation_p.E25085Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31457Q|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32384	Ig-like 150.						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)			ATGATATTCTCAATGATCTGT	0.413													3	103					0	0	0	0	G	179399269	C	G	179399269	3	3	367	1	0	0	0	0	1	0	0	0	16831	835	29	2	5926	2	TTN	2	179399269	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08	3355419	179399269	63800104	15	71354											
NDUFAF3	25915	broad.mit.edu	37	chr3	49060398	49060398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggggcattgctgtggaaGtgcaggacacggtgagtccc	8	7	17	9	2	0	1	0	1	0	0	1	3	1	3	1	5	3	3	1	5	1	1			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr3:49060398G>T	ENST00000326925.6	+	4	1561	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	NDUFAF3_ENST00000451378.2_Missense_Mutation_p.V86L|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.V86L|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.V86L	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	143					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCTGTGGAAGTGCAGGACAC	0.637													4	95					0.00024832	0.000336332	1	0	T	49060398	G	T	49060398	3	4	367	1	0	0	0	0	1	0	0	0	10346	1029	36	4	441	4	NDUFAF3	3	49060398	Missense_Mutation	SNP	G	TCGA-D6-6824-01A-11D-1912-08		49060398	148962032	16	71355											
CPOX	1371	broad.mit.edu	37	chr3	98304334	98304334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctggggggtgaatgagtCatcacagtgctttttcacaa	9	12	11	9	0	3	2	3	2	0	0	4	2	4	2	1	3	1	1	1	3	2	2			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr3:98304334C>T	ENST00000264193.2	-	5	1341	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	375						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTGAATGAGTCATCACAGTGC	0.517													7	234					0	0	0	0	T	98304334	C	T	98304334	3	4	367	1	0	0	0	0	1	0	0	0	3851	826	29	2	253	2	CPOX	3	98304334	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08	49243936	98304334	99718096	17	71356											
PIK3CA	5290	broad.mit.edu	37	chr3	178947827	178947827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgtttacacgttcatGtgctggatactgtgtagcta	8	15	10	8	1	1	1	1	1	0	0	1	2	1	2	1	1	4	5	1	1	4	6			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr3:178947827G>T	ENST00000263967.3	+	19	2859	c.2702G>T	c.(2701-2703)tGt>tTt	p.C901F		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	901	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C901F(7)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACACGTTCATGTGCTGGATAC	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	174					2.48551e-13	3.54599e-13	1	0	T	178947827	G	T	178947827	3	4	367	1	0	0	0	0	1	0	0	0	11985	1377	48	4	2772	4	PIK3CA	3	178947827	Missense_Mutation	SNP	G	TCGA-D6-6824-01A-11D-1912-08	80643493	178947827	19074603	18	71357											
SENP5	205564	broad.mit.edu	37	chr3	196612189	196612189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaagctaagctgggaaGgccagttacttggaatagac	13	9	12	7	0	1	2	0	1	1	1	1	4	1	4	1	3	3	3	1	3	6	4			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr3:196612189G>A	ENST00000323460.5	+	2	386	c.137G>A	c.(136-138)aGg>aAg	p.R46K	SENP5_ENST00000445299.2_Missense_Mutation_p.R46K|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	46					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AAGCTGGGAAGGCCAGTTACT	0.413													4	46					0	0	0	0	A	196612189	G	A	196612189	3	1	367	1	0	0	0	0	1	0	0	0	14136	1000	35	4	139	4	SENP5	3	196612189	Missense_Mutation	SNP	G	TCGA-D6-6824-01A-11D-1912-08	17664362	196612189	1410241	19	71358											
USP53	54532	broad.mit.edu	37	chr4	120169908	120169908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgtcgattcccagacgatAtttgcacagttccaacacag	11	11	7	12	2	0	1	0	0	0	1	3	3	2	1	2	0	2	2	2	0	2	5			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr4:120169908A>G	ENST00000450251.1	+	3	787	c.243A>G	c.(241-243)atA>atG	p.I81M	USP53_ENST00000274030.6_Missense_Mutation_p.I81M			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	81					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CCCAGACGATATTTGCACAGT	0.378													4	49					0	0	0	0	G	120169908	A	G	120169908	3	3	367	1	0	0	0	0	1	0	0	0	17180	439	16	5	253	5	USP53	4	120169908	Missense_Mutation	SNP	A	TCGA-D6-6824-01A-11D-1912-08		120169908	70984368	20	71359											
RAB33B	83452	broad.mit.edu	37	chr4	140394046	140394046	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttggaaataaatgtgacttGagaagtgccatacaggtacc	14	10	11	6	0	0	2	0	2	0	1	0	4	0	3	2	2	3	2	2	2	6	5			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr4:140394046G>C	ENST00000305626.5	+	2	845	c.456G>C	c.(454-456)ttG>ttC	p.L152F		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	152					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					AATGTGACTTGAGAAGTGCCA	0.398													4	126					0	0	0	0	C	140394046	G	C	140394046	3	2	367	1	0	0	0	0	1	0	0	0	13005	1281	45	2	462	2	RAB33B	4	140394046	Missense_Mutation	SNP	G	TCGA-D6-6824-01A-11D-1912-08	20224138	140394046	50760230	21	71360											
DCHS2	54798	broad.mit.edu	37	chr4	155278384	155278384	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctacttgaagtgccttaGcagaggtaaaaacatctcta	13	11	7	10	0	2	2	0	1	2	1	3	2	2	2	2	1	4	2	2	1	7	5			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr4:155278384G>C	ENST00000357232.3	-	6	786	c.787C>G	c.(787-789)Cta>Gta	p.L263V	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	263	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		aagtgccttagcagaggtaaa	0.398													11	136					0	0	0	0	C	155278384	G	C	155278384	3	2	367	1	0	0	0	0	1	0	0	0	4320	962	34	4	8139	4	DCHS2	4	155278384	Missense_Mutation	SNP	G	TCGA-D6-6824-01A-11D-1912-08	14884338	155278384	35875892	22	71361											
PCDHB2	56133	broad.mit.edu	37	chr5	140476001	140476001	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaccgcggctccccggcgTtgagcagcgaggcgctggtg	5	5	17	14	6	0	2	0	1	0	1	1	3	1	2	3	4	2	4	3	4	0	1			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr5:140476001T>C	ENST00000194155.4	+	1	1775	c.1627T>C	c.(1627-1629)Ttg>Ctg	p.L543L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		543	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCCGGCGTTGAGCAGCGA	0.706													6	89					0	0	0	0	C	140476001	T	C	140476001	2	2	367	1	0	0	0	0	0	0	0	1	11613	1722	60	5		5	PCDHB2	5	140476001	Silent	SNP	T	TCGA-D6-6824-01A-11D-1912-08		140476001	40439259	23	71362											
PCDHGA4	56111	broad.mit.edu	37	chr5	140734835	140734835	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttctcctgggggttcTggtggaaatcagggccgaac	6	10	14	11	1	3	0	1	0	2	0	4	2	3	1	3	5	2	1	3	5	2	2			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr5:140734835T>C	ENST00000571252.1	+	1	68	c.68T>C	c.(67-69)cTg>cCg	p.L23P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGGTTCTGGTGGAAATC	0.637													6	73					0	0	0	0	C	140734835	T	C	140734835	3	2	367	1	0	0	0	0	1	0	0	0	11627	1580	55	5	70	5	PCDHGA4	5	140734835	Missense_Mutation	SNP	T	TCGA-D6-6824-01A-11D-1912-08	258834	140734835	40180425	24	71363											
ADAM19	8728	broad.mit.edu	37	chr5	156934137	156934137	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgatggtggtgccgtggAaggacatgcccctgcaggag	7	6	18	10	2	0	0	0	0	0	0	0	4	0	3	4	6	3	1	4	6	1	0			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr5:156934137A>G	ENST00000257527.4	-	10	995	c.917T>C	c.(916-918)tTc>tCc	p.F306S	ADAM19_ENST00000517905.1_Missense_Mutation_p.F306S|ADAM19_ENST00000430702.2_Missense_Mutation_p.F39S|ADAM19_ENST00000394020.1_Missense_Mutation_p.F308S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	306	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGCCGTGGAAGGACATGCC	0.617													3	80					0	0	0	0	G	156934137	A	G	156934137	3	3	367	1	0	0	0	0	1	0	0	0	240	246	9	5	1895	5	ADAM19	5	156934137	Missense_Mutation	SNP	A	TCGA-D6-6824-01A-11D-1912-08	16199302	156934137	23981123	25	71364											
RIMS1	22999	broad.mit.edu	37	chr6	72968708	72968708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagtttagatgaaattcatCcaacaagaaggtcacgttct	14	11	9	7	1	3	3	2	1	1	2	4	4	4	4	1	2	1	2	1	2	5	4			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr6:72968708C>T	ENST00000264839.7	+	18	2947	c.2947C>T	c.(2947-2949)Cca>Tca	p.P983S	RIMS1_ENST00000518273.1_Missense_Mutation_p.P983S|RIMS1_ENST00000517960.1_Missense_Mutation_p.P982S|RIMS1_ENST00000523963.1_Missense_Mutation_p.P457S|RIMS1_ENST00000517827.1_Missense_Mutation_p.P442S|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000491071.2_Missense_Mutation_p.P983S|RIMS1_ENST00000522291.1_Missense_Mutation_p.P982S|RIMS1_ENST00000521978.1_Missense_Mutation_p.P983S|RIMS1_ENST00000401910.3_Missense_Mutation_p.P456S|RIMS1_ENST00000520567.1_Missense_Mutation_p.P982S|RIMS1_ENST00000425662.2_Missense_Mutation_p.P376S|RIMS1_ENST00000348717.5_Missense_Mutation_p.P982S			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	983					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)				TGAAATTCATCCAACAAGAAG	0.388													6	90					0	0	0	0	T	72968708	C	T	72968708	3	4	367	1	0	0	0	0	1	0	0	0	13452	855	30	2	3180	2	RIMS1	6	72968708	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08		72968708	98146359	26	71365											
PDE1C	5137	broad.mit.edu	37	chr7	31862847	31862847	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcgcttggcatctgacgaGctgatgctattcaaactgga	10	11	11	9	2	2	2	1	2	1	0	3	5	2	3	0	2	3	4	0	2	2	3			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr7:31862847G>A	ENST00000396184.3	-	15	1626	c.1422C>T	c.(1420-1422)agC>agT	p.S474S	PDE1C_ENST00000396191.1_Silent_p.S474S|PDE1C_ENST00000321453.7_Silent_p.S474S|PDE1C_ENST00000396193.1_Silent_p.S534S|PDE1C_ENST00000396182.2_Silent_p.S474S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	474	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CATCTGACGAGCTGATGCTAT	0.438													4	54					0	0	0	0	A	31862847	G	A	31862847	2	1	367	1	0	0	0	0	0	0	0	1	11706	962	34	4		4	PDE1C	7	31862847	Silent	SNP	G	TCGA-D6-6824-01A-11D-1912-08		31862847	127275816	27	71366											
SEMA3C	10512	broad.mit.edu	37	chr7	80546045	80546045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggaagatcctttcacaCagatagaacaaataaatact	17	9	7	8	0	1	3	1	0	0	3	2	4	2	4	1	1	2	1	1	1	7	4			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr7:80546045C>T	ENST00000265361.3	-	2	614	c.53G>A	c.(52-54)tGt>tAt	p.C18Y	SEMA3C_ENST00000544525.1_Missense_Mutation_p.C36Y|SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000536800.1_De_novo_Start_InFrame|SEMA3C_ENST00000419255.2_Missense_Mutation_p.C18Y	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	18					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCTTTCACACAGATAGAACA	0.348													9	54					0	0	0	0	T	80546045	C	T	80546045	3	4	367	1	0	0	0	0	1	0	0	0	14113	478	17	4	2270	4	SEMA3C	7	80546045	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08	48683198	80546045	78592618	28	71367											
NPTX2	4885	broad.mit.edu	37	chr7	98254269	98254269	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcaccagatgcgttcaagGtgtccctcccactccgcaca	9	8	8	16	2	2	1	2	0	0	1	5	1	5	1	4	1	1	2	4	1	1	1			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr7:98254269G>C	ENST00000265634.3	+	3	844	c.679G>C	c.(679-681)Gtg>Ctg	p.V227L		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	227	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGCGTTCAAGGTGTCCCTCCC	0.607													19	226					0	0	0	0	C	98254269	G	C	98254269	3	2	367	1	0	0	0	0	1	0	0	0	10674	1261	44	4	689	4	NPTX2	7	98254269	Missense_Mutation	SNP	G	TCGA-D6-6824-01A-11D-1912-08	17708224	98254269	60884394	29	71368											
OR9A4	130075	broad.mit.edu	37	chr7	141618783	141618783	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttctttttctacttggtGacattaatgggaaacacagt	10	17	7	7	0	3	1	0	1	3	0	3	2	3	2	0	2	2	0	0	2	3	7			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr7:141618783G>A	ENST00000548136.1	+	1	167	c.108G>A	c.(106-108)gtG>gtA	p.V36V	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TCTACTTGGTGACATTAATGG	0.428													6	157					0	0	0	0	A	141618783	G	A	141618783	2	1	367	1	0	0	0	0	0	0	0	1	11320	1277	45	2		2	OR9A4	7	141618783	Silent	SNP	G	TCGA-D6-6824-01A-11D-1912-08	43364514	141618783	17519880	30	71369											
CSMD1	64478	broad.mit.edu	37	chr8	4494966	4494966	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacaactgtatcctattgCgctcgcccgtgatgatgatc	9	11	10	11	3	0	3	0	3	0	0	3	4	1	4	2	1	2	2	2	1	3	3			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr8:4494966C>G	ENST00000520002.1	-	2	755	c.200G>C	c.(199-201)cGc>cCc	p.R67P	CSMD1_ENST00000542608.1_Missense_Mutation_p.R67P|CSMD1_ENST00000400186.3_Missense_Mutation_p.R67P|CSMD1_ENST00000539096.1_Missense_Mutation_p.R67P|CSMD1_ENST00000537824.1_Missense_Mutation_p.R67P|CSMD1_ENST00000602723.1_Missense_Mutation_p.R67P|CSMD1_ENST00000602557.1_Missense_Mutation_p.R67P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	67	CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATCCTATTGCGCTCGCCCGT	0.468													4	101					0	0	0	0	G	4494966	C	G	4494966	3	3	367	1	0	0	0	0	1	0	0	0	3976	768	27	3	10583	3	CSMD1	8	4494966	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08		4494966	141869056	31	71370											
PXDNL	137902	broad.mit.edu	37	chr8	52320759	52320759	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtggtctctacccctttgaAtgatggtggcagccgaatcc	7	11	11	12	2	1	2	0	2	1	0	3	3	2	2	4	3	2	1	4	3	3	2			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr8:52320759A>G	ENST00000356297.4	-	17	3525	c.3425T>C	c.(3424-3426)aTt>aCt	p.I1142T	PXDNL_ENST00000543296.1_Missense_Mutation_p.I1142T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1142					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACCCCTTTGAATGATGGTGGC	0.493													5	122					0	0	0	0	G	52320759	A	G	52320759	3	3	367	1	0	0	0	0	1	0	0	0	12930	101	4	5	994	5	PXDNL	8	52320759	Missense_Mutation	SNP	A	TCGA-D6-6824-01A-11D-1912-08	47825793	52320759	94043263	32	71371											
CSMD3	114788	broad.mit.edu	37	chr8	113249436	113249436	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaaagtagcagctccAtgttgctattgctcagtgtt	9	14	9	9	0	1	1	1	1	0	0	2	1	2	1	2	0	5	7	2	0	4	6			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr8:113249436A>T	ENST00000297405.5	-	67	10854	c.10610T>A	c.(10609-10611)aTg>aAg	p.M3537K	CSMD3_ENST00000455883.2_Missense_Mutation_p.M3368K|CSMD3_ENST00000343508.3_Missense_Mutation_p.M3497K|CSMD3_ENST00000352409.3_Missense_Mutation_p.M3467K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3537						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGCAGCTCCATGTTGCTATT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	94					0	0	0	0	T	113249436	A	T	113249436	3	4	367	1	0	0	0	0	1	0	0	0	3978	217	8	5	533	5	CSMD3	8	113249436	Missense_Mutation	SNP	A	TCGA-D6-6824-01A-11D-1912-08	60928677	113249436	33114586	33	71372											
CSMD3	114788	broad.mit.edu	37	chr8	113662433	113662433	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaccagtggtttttttcGcatagaaggggctcttcatg	7	14	10	10	1	2	1	1	0	1	1	4	1	3	1	2	3	0	3	2	3	2	5			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr8:113662433G>T	ENST00000297405.5	-	19	3394	c.3150C>A	c.(3148-3150)tgC>tgA	p.C1050*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.C946*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.C1010*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.C1050*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1050	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTTTTTTTCGCATAGAAGGG	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	90					0.000602214	0.000795518	1	0	T	113662433	G	T	113662433	4	4	367	1	0	0	0	0	0	1	0	0	3978	1079	38	3	8185	3	CSMD3	8	113662433	Nonsense_Mutation	SNP	G	TCGA-D6-6824-01A-11D-1912-08	412997	113662433	32701589	34	71373											
SHARPIN	81858	broad.mit.edu	37	chr8	145154650	145154650	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctcctgaagctgaacactCagggccacacgatgctgggc	9	6	12	14	1	1	2	1	2	0	0	2	3	2	2	3	2	3	2	3	2	2	0			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr8:145154650C>G	ENST00000398712.2	-	4	1051	c.615G>C	c.(613-615)ctG>ctC	p.L205L	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	205	Interaction with SHANK1 (By similarity).				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGAACACTCAGGGCCACAC	0.652													3	74					0	0	0	0	G	145154650	C	G	145154650	2	3	367	1	0	0	0	0	0	0	0	1	14355	813	29	2		2	SHARPIN	8	145154650	Silent	SNP	C	TCGA-D6-6824-01A-11D-1912-08	31492217	145154650	1209372	35	71374											
ZNF658	26149	broad.mit.edu	37	chr9	40774387	40774387	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctttcattacactcataGtgtgtcatagccatgtgaac	10	13	6	12	0	3	1	3	1	0	0	3	1	3	1	3	0	3	0	3	0	4	4			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr9:40774387G>C	ENST00000602553.1	-	5	1182	c.888C>G	c.(886-888)caC>caG	p.H296Q	ZNF658_ENST00000377626.3_Missense_Mutation_p.H296Q|ZNF658_ENST00000441795.1_Missense_Mutation_p.H294Q			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TACACTCATAGTGTGTCATAG	0.403													18	167					0	0	0	0	C	40774387	G	C	40774387	3	2	367	1	0	0	0	0	1	0	0	0	18164	1020	36	4	2295	4	ZNF658	9	40774387	Missense_Mutation	SNP	G	TCGA-D6-6824-01A-11D-1912-08		40774387	100439044	36	71375											
LPPR1	54886	broad.mit.edu	37	chr9	104075140	104075140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaagccggtgctgtgcCtcggaactctctgcacagcc	6	8	12	15	2	1	0	0	0	1	0	3	1	1	1	4	3	6	2	4	3	2	0			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr9:104075140C>A	ENST00000374874.3	+	6	1136	c.697C>A	c.(697-699)Ctc>Atc	p.L233I	LPPR1_ENST00000395056.2_Missense_Mutation_p.L233I	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		233						integral to membrane	catalytic activity										GGTGCTGTGCCTCGGAACTCT	0.567													10	94					0.00136819	0.00174282	1	0	A	104075140	C	A	104075140	3	1	367	1	0	0	0	0	1	0	0	0	8988	681	24	4	715	4	LPPR1	9	104075140	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08	63300753	104075140	37138291	37	71376											
GRIN3A	116443	broad.mit.edu	37	chr9	104448991	104448991	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgtggctacagctctTgcgaccagctccatagcatc	7	10	11	13	1	1	0	0	0	1	0	3	1	2	0	2	2	5	5	2	2	2	3			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr9:104448991T>G	ENST00000361820.3	-	2	1791	c.1191A>C	c.(1189-1191)gcA>gcC	p.A397A		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	397					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTACAGCTCTTGCGACCAGCT	0.498													14	69					0	0	0	0	G	104448991	T	G	104448991	2	3	367	1	0	0	0	0	0	0	0	1	6833	1799	63	5		5	GRIN3A	9	104448991	Silent	SNP	T	TCGA-D6-6824-01A-11D-1912-08	373851	104448991	36764440	38	71377											
FCN1	2219	broad.mit.edu	37	chr9	137801651	137801651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtcctggcccgtctaggcgGgccgcaccttcatctctgac	4	9	12	16	3	3	1	1	1	2	0	5	1	4	1	4	4	0	1	4	4	1	2			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr9:137801651G>T	ENST00000371806.3	-	9	1065	c.974C>A	c.(973-975)cCc>cAc	p.P325H		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	325	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CGTCTAGGCGGGCCGCACCTT	0.592													8	73					0.00307968	0.00383169	1	0	T	137801651	G	T	137801651	3	4	367	1	0	0	0	0	1	0	0	0	5836	1232	43	4	10	4	FCN1	9	137801651	Missense_Mutation	SNP	G	TCGA-D6-6824-01A-11D-1912-08	33352660	137801651	3411780	39	71378											
PARD3	56288	broad.mit.edu	37	chr10	34673066	34673066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacacttactgttcaaatCttctatttcgaaggtcgcca	11	13	5	12	2	3	0	1	0	2	0	5	1	3	0	1	1	1	1	1	1	4	5			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr10:34673066C>T	ENST00000374789.3	-	8	1332	c.1007G>A	c.(1006-1008)aGa>aAa	p.R336K	PARD3_ENST00000374773.1_Missense_Mutation_p.R336K|PARD3_ENST00000340077.5_Missense_Mutation_p.R336K|PARD3_ENST00000374776.1_Missense_Mutation_p.R336K|PARD3_ENST00000374788.3_Missense_Mutation_p.R336K|PARD3_ENST00000374794.3_Missense_Mutation_p.R292K|PARD3_ENST00000545260.1_Missense_Mutation_p.R292K|PARD3_ENST00000545693.1_Missense_Mutation_p.R336K|PARD3_ENST00000544292.1_Missense_Mutation_p.R66K|PARD3_ENST00000374790.3_Missense_Mutation_p.R292K|PARD3_ENST00000350537.4_Missense_Mutation_p.R336K|PARD3_ENST00000346874.4_Missense_Mutation_p.R336K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	336	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTGTTCAAATCTTCTATTTCG	0.398													4	60					0	0	0	0	T	34673066	C	T	34673066	3	4	367	1	0	0	0	0	1	0	0	0	11514	913	32	2	3170	2	PARD3	10	34673066	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08		34673066	100861681	40	71379											
DRGX	644168	broad.mit.edu	37	chr10	50574313	50574313	+	Frame_Shift_Del	DEL	G	G	-																															gacagcttctgagtgctcgcGggccttcatgcgcagggtgg																										TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr10:50574313delG	ENST00000374139.2	-	6	650	c.640delC	c.(640-642)gcfs	p.R214fs	DRGX_ENST00000434016.1_Frame_Shift_Del_p.R219fs			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	219					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GAGTGCTCGCGGGCCTTCATG	0.672													11	111	---	---	---	---					-	50574313	G	-	50574313	7	5	367	1	0	1	0	1	0	0	0	0	4799	1116	39	0	154	0	DRGX	10	50574313	Frame_Shift_Del	DEL	G	TCGA-D6-6824-01A-11D-1912-08	15901247	50574313	84960434	41	71380											
RUFY2	55680	broad.mit.edu	37	chr10	70141060	70141060	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtcgaaggcctatcagagTatcttgtttctcatggatat	9	16	9	7	1	3	1	2	0	2	1	5	3	3	2	1	2	0	2	1	2	4	6			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr10:70141060T>C	ENST00000388768.2	-	11	1467	c.1141A>G	c.(1141-1143)Act>Gct	p.T381A	RUFY2_ENST00000399200.2_Missense_Mutation_p.T312A|RUFY2_ENST00000454950.2_Missense_Mutation_p.T288A|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Missense_Mutation_p.T346A	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	395						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						CCTATCAGAGTATCTTGTTTC	0.363													9	101					0	0	0	0	C	70141060	T	C	70141060	3	2	367	1	0	0	0	0	1	0	0	0	13824	1638	57	5	929	5	RUFY2	10	70141060	Missense_Mutation	SNP	T	TCGA-D6-6824-01A-11D-1912-08	19566747	70141060	65393687	42	71381											
ARHGAP20	57569	broad.mit.edu	37	chr11	110450456	110450456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagcatgtgggggtggctCtaagggtccttttggagaag	9	10	17	5	0	1	2	0	0	1	2	2	3	2	2	1	5	1	2	1	5	3	3			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr11:110450456C>T	ENST00000260283.4	-	16	3498	c.3214G>A	c.(3214-3216)Gag>Aag	p.E1072K	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.E1046K|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.E1049K|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.E615K|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.E1036K|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.E1036K|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.E1046K	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1072					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GGGGGTGGCTCTAAGGGTCCT	0.498													7	159					0	0	0	0	T	110450456	C	T	110450456	3	4	367	1	0	0	0	0	1	0	0	0	872	922	32	2	365	2	ARHGAP20	11	110450456	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08		110450456	24556060	43	71382											
PIWIL1	9271	broad.mit.edu	37	chr12	130831541	130831541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtgaggataacgatcaCtttaacaaatgaacttccac	15	10	8	8	1	1	2	1	2	0	0	2	5	2	4	1	2	3	0	1	2	4	4			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr12:130831541C>A	ENST00000245255.3	+	6	859	c.587C>A	c.(586-588)aCt>aAt	p.T196N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	196					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATAACGATCACTTTAACAAAT	0.348													5	49					0.00116845	0.00150631	1	0	A	130831541	C	A	130831541	3	1	367	1	0	0	0	0	1	0	0	0	12029	565	20	4	605	4	PIWIL1	12	130831541	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08		130831541	3020354	44	71383											
RFXAP	5994	broad.mit.edu	37	chr13	37399599	37399599	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catactctccattgttaaacAaagaacaggatcttttgggg	13	12	8	8	0	2	1	0	0	2	1	3	2	2	2	1	3	3	1	1	3	5	5			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr13:37399599A>C	ENST00000255476.2	+	2	769	c.635A>C	c.(634-636)cAa>cCa	p.Q212P	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	212						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		ATTGTTAAACAAAGAACAGGA	0.318													4	81					0	0	0	0	C	37399599	A	C	37399599	3	2	367	1	0	0	0	0	1	0	0	0	13352	130	5	5	641	5	RFXAP	13	37399599	Missense_Mutation	SNP	A	TCGA-D6-6824-01A-11D-1912-08		37399599	77770279	45	71384											
FREM2	341640	broad.mit.edu	37	chr13	39358893	39358893	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcccatggggggaagaatCggatcagagttcccaggggc	10	6	16	9	1	1	2	1	0	0	2	3	4	2	4	2	6	1	1	2	6	2	1			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr13:39358893C>T	ENST00000280481.7	+	6	6183	c.5967C>T	c.(5965-5967)atC>atT	p.I1989I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1989					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGGGAAGAATCGGATCAGAGT	0.448													4	39					0	0	0	0	T	39358893	C	T	39358893	2	4	367	1	0	0	0	0	0	0	0	1	6093	874	31	1		1	FREM2	13	39358893	Silent	SNP	C	TCGA-D6-6824-01A-11D-1912-08	1959294	39358893	75810985	46	71385											
HNRNPA1L2	144983	broad.mit.edu	37	chr13	53217477	53217477	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaggaaattttggaggcAgaagctctggcccctatggc	10	8	15	8	0	1	1	0	0	1	1	1	4	1	4	2	6	1	2	2	6	3	3			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr13:53217477A>T	ENST00000342657.3	+	7	1923	c.850A>T	c.(850-852)Aga>Tga	p.R284*	HNRNPA1L2_ENST00000398039.1_Nonsense_Mutation_p.R284*|HNRNPA1L2_ENST00000357495.2_Nonsense_Mutation_p.R284*	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	284	Gly-rich.|Nuclear targeting sequence (By similarity).				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						TTTTGGAGGCAGAAGCTCTGG	0.478													5	101					0	0	0	0	T	53217477	A	T	53217477	4	4	367	1	0	0	0	0	0	1	0	0	7308	180	7	5	852	5	HNRNPA1L2	13	53217477	Nonsense_Mutation	SNP	A	TCGA-D6-6824-01A-11D-1912-08	13858584	53217477	61952401	47	71386											
MYH6	4624	broad.mit.edu	37	chr14	23863348	23863348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctccagctccttgcGgcgagcctcggacttctcca	4	11	8	18	3	2	0	0	0	2	0	7	2	4	1	5	2	3	1	5	2	0	3			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr14:23863348G>T	ENST00000405093.3	-	21	2684	c.2614C>A	c.(2614-2616)Cgc>Agc	p.R872S	MYH6_ENST00000356287.3_Missense_Mutation_p.R872S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	872					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.R872C(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCTCCTTGCGGCGAGCCTCG	0.592													9	81					1.04858e-14	1.51618e-14	1	0	T	23863348	G	T	23863348	3	4	367	1	0	0	0	0	1	0	0	0	10108	1116	39	3	3281	3	MYH6	14	23863348	Missense_Mutation	SNP	G	TCGA-D6-6824-01A-11D-1912-08		23863348	83486192	48	71387											
NID2	22795	broad.mit.edu	37	chr14	52508964	52508964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgtgtaggctctgccatCattgcccacgatatacgcat	8	10	10	13	3	2	0	1	0	1	0	2	1	2	0	3	2	3	3	3	2	3	4			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr14:52508964C>T	ENST00000216286.5	-	7	1683	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N	NID2_ENST00000541773.1_Missense_Mutation_p.D509N	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	562	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCTCTGCCATCATTGCCCACG	0.597													16	198					0	0	0	0	T	52508964	C	T	52508964	3	4	367	1	0	0	0	0	1	0	0	0	10485	826	29	2	2507	2	NID2	14	52508964	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08	28645616	52508964	54840576	49	71388											
NUMB	8650	broad.mit.edu	37	chr14	73745999	73745999	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaccttacccgaacatgtGgctgcaatttccttgttagc	8	12	8	13	1	0	0	0	0	0	0	1	1	1	0	4	1	4	3	4	1	4	4			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr14:73745999G>A	ENST00000556772.1	-	6	3085	c.798C>T	c.(796-798)gcC>gcT	p.A266A	NUMB_ENST00000355058.3_Silent_p.A410A|NUMB_ENST00000356296.4_Intron|NUMB_ENST00000359560.3_Silent_p.A399A|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000554546.1_Intron|NUMB_ENST00000555238.1_Silent_p.A410A|NUMB_ENST00000557597.1_Silent_p.A399A|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000555394.1_Intron|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000535282.1_Silent_p.A399A			P49757	NUMB_HUMAN	numb homolog (Drosophila)	410					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CCGAACATGTGGCTGCAATTT	0.527													4	71					0	0	0	0	A	73745999	G	A	73745999	2	1	367	1	0	0	0	0	0	0	0	1	10822	1335	47	4		4	NUMB	14	73745999	Silent	SNP	G	TCGA-D6-6824-01A-11D-1912-08	21237035	73745999	33603541	50	71389											
FGF7	2252	broad.mit.edu	37	chr15	49776562	49776562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattctggaaaaccattacaAcacatatgcatcagctaaat	18	10	4	9	0	2	0	1	0	1	0	2	1	2	1	1	1	5	2	1	1	8	4			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr15:49776562A>G	ENST00000267843.4	+	4	1057	c.446A>G	c.(445-447)aAc>aGc	p.N149S	FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	149					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	AACCATTACAACACATATGCA	0.328													3	47					0	0	0	0	G	49776562	A	G	49776562	3	3	367	1	0	0	0	0	1	0	0	0	5902	43	2	5	456	5	FGF7	15	49776562	Missense_Mutation	SNP	A	TCGA-D6-6824-01A-11D-1912-08		49776562	52754830	51	71390											
SLC24A1	9187	broad.mit.edu	37	chr15	65936825	65936825	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggccagagcccaaccccAggccaaagcagaaagcaaac	16	0	11	14	0	0	2	0	0	0	2	0	2	0	2	5	3	5	2	5	3	4	0			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr15:65936825A>G	ENST00000261892.6	+	5	2401	c.2114A>G	c.(2113-2115)cAg>cGg	p.Q705R	SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_Missense_Mutation_p.Q687R|SLC24A1_ENST00000399033.4_Missense_Mutation_p.Q705R|SLC24A1_ENST00000546330.1_Missense_Mutation_p.Q687R|SLC24A1_ENST00000537259.1_Missense_Mutation_p.Q687R|SLC24A1_ENST00000544319.2_Intron	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	705					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCCCAACCCCAGGCCAAAGCA	0.547													2	6					0	0	0	0	G	65936825	A	G	65936825	3	3	367	1	0	0	0	0	1	0	0	0	14553	188	7	5	234	5	SLC24A1	15	65936825	Missense_Mutation	SNP	A	TCGA-D6-6824-01A-11D-1912-08	16160263	65936825	36594567	52	71391											
GPR139	124274	broad.mit.edu	37	chr16	20043921	20043921	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggcagcagcgagtgccaaGagatagttgtaggaggactt	11	8	15	7	2	0	1	0	0	0	1	1	5	0	3	1	3	3	4	1	3	3	4			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr16:20043921G>C	ENST00000570682.1	-	2	498	c.198C>G	c.(196-198)ctC>ctG	p.L66L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	66						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CGAGTGCCAAGAGATAGTTGT	0.468													3	44					0	0	0	0	C	20043921	G	C	20043921	2	2	367	1	0	0	0	0	0	0	0	1	6697	929	33	2		2	GPR139	16	20043921	Silent	SNP	G	TCGA-D6-6824-01A-11D-1912-08		20043921	70310832	53	71392											
SLC47A1	55244	broad.mit.edu	37	chr17	19470127	19470127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcattaatctggtggctcaGgtggttccaatttatgctgt	8	16	10	7	0	3	0	2	0	1	0	4	0	4	0	1	4	1	3	1	4	3	4			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:19470127G>T	ENST00000270570.4	+	13	1217	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	SLC47A1_ENST00000457293.1_Missense_Mutation_p.Q377H|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000436810.2_Missense_Mutation_p.Q354H|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Missense_Mutation_p.Q182H|SLC47A1_ENST00000395585.1_Missense_Mutation_p.Q377H	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	377						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TGGTGGCTCAGGTGGTTCCAA	0.418													5	57					0.00116845	0.00150631	1	0	T	19470127	G	T	19470127	3	4	367	1	0	0	0	0	1	0	0	0	14735	991	35	4	1181	4	SLC47A1	17	19470127	Missense_Mutation	SNP	G	TCGA-D6-6824-01A-11D-1912-08		19470127	61725083	54	71393											
SSH2	85464	broad.mit.edu	37	chr17	27958126	27958126	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctctccactggcttgctCtgcacaatacactctgttgt	6	13	8	14	0	3	0	0	0	3	0	4	0	3	0	2	2	3	4	2	2	2	3			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:27958126C>T	ENST00000269033.3	-	15	4156	c.4005G>A	c.(4003-4005)caG>caA	p.Q1335Q	SSH2_ENST00000540801.1_Silent_p.Q1362Q|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1335					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGCTTGCTCTGCACAATAC	0.507													4	54					0	0	0	0	T	27958126	C	T	27958126	2	4	367	1	0	0	0	0	0	0	0	1	15275	912	32	2		2	SSH2	17	27958126	Silent	SNP	C	TCGA-D6-6824-01A-11D-1912-08	8487999	27958126	53237084	55	71394											
PLEKHM1	9842	broad.mit.edu	37	chr17	43522926	43522926	+	Missense_Mutation	SNP	T	T	G																															cccgtctcctcccaatgaggTgcatccgctccacatgctcg																										TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:43522926T>G	ENST00000430334.3	-	9	2880	c.2747A>C	c.(2746-2748)cAc>cCc	p.H916P	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.H827P	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	916					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCCAATGAGGTGCATCCGCTC	0.617													6	73					0	0	0	0	G	43522926	T	G	43522926	3	3	367	1	0	0	0	0	1	0	0	0	12152	1696	59	5	439	5	PLEKHM1	17	43522926	Missense_Mutation	SNP	T	TCGA-D6-6824-01A-11D-1912-08	15564800	43522926	37672284	56	71395	981	2									
PLEKHM1	9842	broad.mit.edu	37	chr17	43522928	43522928	+	Missense_Mutation	SNP	C	C	A																															cgtctcctcccaatgaggtgCatccgctccacatgctcgta																										TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:43522928C>A	ENST00000430334.3	-	9	2878	c.2745G>T	c.(2743-2745)atG>atT	p.M915I	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.M826I	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	915					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CAATGAGGTGCATCCGCTCCA	0.612													6	75					0.00448238	0.00551281	1	0	A	43522928	C	A	43522928	3	1	367	1	0	0	0	0	1	0	0	0	12152	710	25	4	441	4	PLEKHM1	17	43522928	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08	2	43522928	37672282	57	71396	981	2									
CASKIN2	57513	broad.mit.edu	37	chr17	73499583	73499583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtactgtggcagccccagtGcacacagccactccagcagg	9	5	12	15	0	0	0	0	0	0	0	1	0	1	0	4	3	5	4	4	3	1	1			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:73499583G>T	ENST00000321617.3	-	17	2292	c.1706C>A	c.(1705-1707)gCa>gAa	p.A569E	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A487E	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	569	SAM 2.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCCCCAGTGCACACAGCCA	0.642													4	41					1.024e-07	1.44168e-07	1	0	T	73499583	G	T	73499583	3	4	367	1	0	0	0	0	1	0	0	0	2692	1319	46	4	1918	4	CASKIN2	17	73499583	Missense_Mutation	SNP	G	TCGA-D6-6824-01A-11D-1912-08	29976655	73499583	7695627	58	71397											
ALPK2	115701	broad.mit.edu	37	chr18	56203268	56203268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaagaaggcagtgtgaTccatcttgagttgtttttcc	9	17	9	6	0	1	3	0	2	1	1	3	3	3	3	2	1	0	3	2	1	3	6			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr18:56203268T>C	ENST00000361673.3	-	5	4364	c.4151A>G	c.(4150-4152)gAt>gGt	p.D1384G	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1384							ATP binding|protein serine/threonine kinase activity			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						GGCAGTGTGATCCATCTTGAG	0.428													4	118					0	0	0	0	C	56203268	T	C	56203268	3	2	367	1	0	0	0	0	1	0	0	0	545	1435	50	5	2397	5	ALPK2	18	56203268	Missense_Mutation	SNP	T	TCGA-D6-6824-01A-11D-1912-08		56203268	21873980	59	71398											
THEG	51298	broad.mit.edu	37	chr19	371324	371324	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagacaggagtcgtccTgggggaggtccccattttag	7	8	16	10	1	0	1	0	0	0	1	3	3	2	3	4	5	0	0	4	5	1	2			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr19:371324T>A	ENST00000342640.4	-	6	678		c.e6-2		THEG_ENST00000346878.2_Splice_Site	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein						cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGAGTCGTCCTGGGGGAGGTC	0.582													6	163					0	0	0	0	A	371324	T	A	371324	5	1	367	1	0	0	0	0	0	0	1	0	15951	1594	55	5	517	5	THEG	19	371324	Splice_Site	SNP	T	TCGA-D6-6824-01A-11D-1912-08		371324	58757659	60	71399											
STXBP2	6813	broad.mit.edu	37	chr19	7709561	7709561	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggactccatgaagctgatcgTtccggtgctgctggacgcgg	6	9	15	11	4	0	2	0	2	0	0	3	4	2	4	2	4	3	4	2	4	1	1			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr19:7709561T>C	ENST00000441779.2	+	14	1239	c.1202T>C	c.(1201-1203)gTt>gCt	p.V401A	STXBP2_ENST00000414284.2_Missense_Mutation_p.V387A|STXBP2_ENST00000221283.5_Missense_Mutation_p.V390A	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	390					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AAGCTGATCGTTCCGGTGCTG	0.652													4	53					0	0	0	0	C	7709561	T	C	7709561	3	2	367	1	0	0	0	0	1	0	0	0	15443	1725	60	5	1223	5	STXBP2	19	7709561	Missense_Mutation	SNP	T	TCGA-D6-6824-01A-11D-1912-08	7338237	7709561	51419422	61	71400											
LMTK3	114783	broad.mit.edu	37	chr19	49014769	49014769	+	Frame_Shift_Del	DEL	G	G	-																															cagactcaccggggtgggccGgggacgccaggcagccggag																										TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr19:49014769delG	ENST00000600059.1	-	1	292	c.65delC	c.(64-66)cgfs	p.P22fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P51fs					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGGGTGGGCCGGGGACGCCAG	0.741													2	4	---	---	---	---					-	49014769	G	-	49014769	7	5	367	1	0	1	0	1	0	0	0	0	8915	1116	39	0	4377	0	LMTK3	19	49014769	Frame_Shift_Del	DEL	G	TCGA-D6-6824-01A-11D-1912-08	41305208	49014769	10114214	62	71401											
HRC	3270	broad.mit.edu	37	chr19	49657229	49657229	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcctcatcttcctccctgggGactctgtggtggtgatggtg	3	14	13	11	0	3	1	1	1	2	0	6	2	6	2	3	5	0	0	3	5	0	1			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr19:49657229G>C	ENST00000252825.4	-	1	1452	c.1266C>G	c.(1264-1266)gtC>gtG	p.V422V	HRC_ENST00000595625.1_Silent_p.V422V	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	422					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CCTCCCTGGGGACTCTGTGGT	0.537													3	93					0	0	0	0	C	49657229	G	C	49657229	2	2	367	1	0	0	0	0	0	0	0	1	7402	1161	41	2		2	HRC	19	49657229	Silent	SNP	G	TCGA-D6-6824-01A-11D-1912-08	642460	49657229	9471754	63	71402											
HUWE1	10075	broad.mit.edu	37	chrX	53571698	53571698	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcttctgagatgccacaaTtaccacattctcagccatgt	10	12	6	13	1	2	1	1	1	2	1	4	2	2	1	3	0	3	1	3	0	2	3			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:53571698T>G	ENST00000342160.3	-	71	11531	c.11074A>C	c.(11074-11076)Att>Ctt	p.I3692L	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.I3692L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3692					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GATGCCACAATTACCACATTC	0.483													4	39					0	0	0	0	G	53571698	T	G	53571698	3	3	367	1	0	0	0	0	1	0	0	0	7514	1493	52	5	2102	5	HUWE1	23	53571698	Missense_Mutation	SNP	T	TCGA-D6-6824-01A-11D-1912-08		53571698	101698862	64	71403											
ZMAT1	84460	broad.mit.edu	37	chrX	101138797	101138797	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttctgatgtttctgtttAtgacctgcttgatggtcagc	5	18	9	9	0	4	3	1	3	3	0	4	3	4	3	1	1	2	3	1	1	1	5			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:101138797A>G	ENST00000372782.3	-	7	1649	c.1602T>C	c.(1600-1602)caT>caC	p.H534H	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.H534H|ZMAT1_ENST00000458570.1_Silent_p.H363H	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	363						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GTTTCTGTTTATGACCTGCTT	0.383													4	51					0	0	0	0	G	101138797	A	G	101138797	2	3	367	1	0	0	0	0	0	0	0	1	17786	446	16	5		5	ZMAT1	23	101138797	Silent	SNP	A	TCGA-D6-6824-01A-11D-1912-08	47567099	101138797	54131763	65	71404											
SERPINA7	6906	broad.mit.edu	37	chrX	105280605	105280605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatagagggtcttgacatCattcaagaactttgccagtg	11	12	9	9	0	4	3	3	1	1	2	4	3	4	3	1	1	2	0	1	1	3	4			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:105280605C>T	ENST00000327674.4	-	1	780	c.445G>A	c.(445-447)Gat>Aat	p.D149N	SERPINA7_ENST00000372563.1_Missense_Mutation_p.D149N			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	149					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCTTGACATCATTCAAGAAC	0.428													6	95					0	0	0	0	T	105280605	C	T	105280605	3	4	367	1	0	0	0	0	1	0	0	0	14181	826	29	2	818	2	SERPINA7	23	105280605	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08	4141808	105280605	49989955	66	71405											
SLC6A14	11254	broad.mit.edu	37	chrX	115582641	115582641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgccactcagatattttactCcctttcagtggcttggggtg	6	15	10	10	0	2	1	2	0	0	1	3	1	3	1	2	3	2	1	2	3	2	5			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:115582641C>T	ENST00000371900.4	+	8	1053	c.965C>T	c.(964-966)tCc>tTc	p.S322F		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	322					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	ATATTTTACTCCCTTTCAGTG	0.318													5	46					0	0	0	0	T	115582641	C	T	115582641	3	4	367	1	0	0	0	0	1	0	0	0	14765	855	30	2	995	2	SLC6A14	23	115582641	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08	10302036	115582641	39687919	67	71406											
MAGEC1	9947	broad.mit.edu	37	chrX	140994645	140994645	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattcctgtgagctcctcCtcctcctcctccactttatt	5	15	4	17	0	0	2	0	1	0	1	7	2	7	2	7	0	1	1	7	0	1	4			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:140994645C>T	ENST00000285879.4	+	4	1741	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	485							protein binding	p.S485S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGCTCCTCCTCCTCCTCCT	0.478										HNSCC(15;0.026)			7	126					0	0	0	0	T	140994645	C	T	140994645	2	4	367	1	0	0	0	0	0	0	0	1	9249	668	24	4		4	MAGEC1	23	140994645	Silent	SNP	C	TCGA-D6-6824-01A-11D-1912-08	25412004	140994645	14275915	68	71407											
MAGEA6	4105	broad.mit.edu	37	chrX	151870027	151870027	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggagggaagacagtatcttCggggatcccaagaagctgct	11	7	15	8	1	1	2	0	0	1	2	3	5	2	5	1	4	2	3	1	4	4	2	rs144083108		TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:151870027C>G	ENST00000329342.5	+	3	942	c.717C>G	c.(715-717)ttC>ttG	p.F239L		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	239	MAGE.						protein binding	p.F239L(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGTATCTTCGGGGATCCCA	0.537													10	124					0	0	0	0	G	151870027	C	G	151870027	3	3	367	1	0	0	0	0	1	0	0	0	9237	883	31	3	719	3	MAGEA6	23	151870027	Missense_Mutation	SNP	C	TCGA-D6-6824-01A-11D-1912-08	10875382	151870027	3400533	69	71408											
PANK4	55229	broad.mit.edu	37	chr1	2451776	2451776	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cataccttcgttttggtgagCagagcgccaagcccccagaa	10	8	10	13	2	0	3	0	1	0	2	1	3	0	3	4	1	4	2	4	1	3	4			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:2451776C>A	ENST00000378466.3	-	5	696	c.684G>T	c.(682-684)ctG>ctT	p.L228L	PANK4_ENST00000435556.3_Silent_p.L189L	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	228					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TTTTGGTGAGCAGAGCGCCAA	0.647													13	50					3.27435e-08	6.68804e-08	1	0	A	2451776	C	A	2451776	2	1	368	1	0	0	0	0	0	0	0	1	11490	697	25	4		4	PANK4	1	2451776	Silent	SNP	C	TCGA-D6-6825-01A-21D-1912-08		2451776	246798845	1	71409											
UBE4B	10277	broad.mit.edu	37	chr1	10209286	10209286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccccaaggtatttgcagCgttgcctgagttttatgtag	7	15	11	8	1	0	1	0	1	0	0	1	1	1	1	3	1	3	5	3	1	4	6			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:10209286C>T	ENST00000377157.3	+	19	2962	c.1901C>T	c.(1900-1902)gCg>gTg	p.A634V	UBE4B_ENST00000343090.6_Missense_Mutation_p.A879V|UBE4B_ENST00000253251.8_Missense_Mutation_p.A750V	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	879					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTATTTGCAGCGTTGCCTGAG	0.289													13	100					0	0	0	0	T	10209286	C	T	10209286	3	4	368	1	0	0	0	0	1	0	0	0	16979	768	27	1	2714	1	UBE4B	1	10209286	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08	7757510	10209286	239041335	2	71410											
OR2T1	26696	broad.mit.edu	37	chr1	248569358	248569361	+	Frame_Shift_Del	DEL	AATT	AATT	-																															ttaaaagtttgctgcctaacAattaattcacatgttgttat																								rs149888596	by1000genomes	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:248569358_248569361delAATT	ENST00000366474.1	+	1	63_66	c.63_66delAATT	c.(61-66)acfs	p.TI21fs		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCCTAACAATTAATTCACATG	0.338													21	65	---	---	---	---					-	248569361	AATT	-	248569358	7	5	368	1	0	1	0	1	0	0	0	0	11087	117	5	0	65	0	OR2T1	1	248569358	Frame_Shift_Del	DEL	AATT	TCGA-D6-6825-01A-21D-1912-08	238360072	248569358	681263	3	71411											
MAPRE3	22924	broad.mit.edu	37	chr2	27248513	27248513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctggccggctgagcaatGtggcccccccctgcattctc	4	9	10	18	1	2	1	0	1	2	0	3	1	2	1	6	3	2	3	6	3	1	1			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:27248513G>A	ENST00000233121.2	+	5	730	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	MAPRE3_ENST00000405074.3_Missense_Mutation_p.V163M|MAPRE3_ENST00000402218.1_Missense_Mutation_p.V163M			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	178					cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGAGCAATGTGGCCCCCCC	0.567													12	47					0	0	0	0	A	27248513	G	A	27248513	3	1	368	1	0	0	0	0	1	0	0	0	9365	1377	48	4	546	4	MAPRE3	2	27248513	Missense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08		27248513	215950860	4	71412											
HTRA2	27429	broad.mit.edu	37	chr2	74757782	74757782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaggtccctatctcgaacgGctcaggattcgtggtggctg	6	10	14	11	4	2	0	1	0	1	0	5	3	3	1	1	5	1	2	1	5	2	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:74757782G>T	ENST00000258080.3	+	2	1175	c.545G>T	c.(544-546)gGc>gTc	p.G182V	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Missense_Mutation_p.G182V	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	182	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ATCTCGAACGGCTCAGGATTC	0.622													11	53					2.80697e-09	5.79504e-09	1	0	T	74757782	G	T	74757782	3	4	368	1	0	0	0	0	1	0	0	0	7507	1203	42	4	551	4	HTRA2	2	74757782	Missense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08	47509269	74757782	168441591	5	71413											
LRP1B	53353	broad.mit.edu	37	chr2	141457979	141457979	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taacgtggattctcatatggCcttattggggaatttaaatt	11	16	9	5	1	1	0	1	0	1	0	2	2	1	2	1	4	1	0	1	4	6	8	rs143179717	byFrequency	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:141457979C>T	ENST00000389484.3	-	41	7610	c.6639G>A	c.(6637-6639)agG>agA	p.R2213R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2213					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTCATATGGCCTTATTGGGG	0.348										TSP Lung(27;0.18)			22	79					0	0	0	0	T	141457979	C	T	141457979	2	4	368	1	0	0	0	0	0	0	0	1	9019	738	26	4		4	LRP1B	2	141457979	Silent	SNP	C	TCGA-D6-6825-01A-21D-1912-08	66700197	141457979	101741394	6	71414											
COBLL1	22837	broad.mit.edu	37	chr2	165551294	165551294	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatactctcttctgcatctGcaaaaaaaaagagctgggtt	13	11	8	9	1	3	1	0	0	3	1	4	2	3	1	0	1	4	4	0	1	5	3			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:165551294G>A	ENST00000375458.2	-	11	2829	c.2608C>T	c.(2608-2610)Cag>Tag	p.Q870*	COBLL1_ENST00000409184.3_Nonsense_Mutation_p.Q908*|COBLL1_ENST00000392717.2_Nonsense_Mutation_p.Q946*|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.Q908*|COBLL1_ENST00000194871.6_Nonsense_Mutation_p.Q975*	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	946										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTCTGCATCTGCAAAAAAAAA	0.413													14	43					0	0	0	0	A	165551294	G	A	165551294	4	1	368	1	0	0	0	0	0	1	0	0	3684	1328	46	4	790	4	COBLL1	2	165551294	Nonsense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08	24093315	165551294	77648079	7	71415											
LRP2	4036	broad.mit.edu	37	chr2	170025080	170025080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcttcatctgaaccatcGccacagtcatcatcgccatc	10	11	5	15	2	5	1	3	1	2	0	8	1	5	1	3	0	1	1	3	0	1	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:170025080G>A	ENST00000263816.3	-	61	11889	c.11604C>T	c.(11602-11604)ggC>ggT	p.G3868G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3868	LDL-receptor class A 34.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.G3868G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGAACCATCGCCACAGTCAT	0.453													6	32					0	0	0	0	A	170025080	G	A	170025080	2	1	368	1	0	0	0	0	0	0	0	1	9020	1074	38	1		1	LRP2	2	170025080	Silent	SNP	G	TCGA-D6-6825-01A-21D-1912-08	4473786	170025080	73174293	8	71416											
CHCHD4	131474	broad.mit.edu	37	chr3	14154580	14154580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccccttgatctcctccGtgctatagtggaagcaggaa	9	10	10	12	1	1	2	0	2	1	0	3	4	2	4	4	2	2	2	4	2	4	3			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:14154580G>A	ENST00000295767.5	-	4	599	c.275C>T	c.(274-276)aCg>aTg	p.T92M	CHCHD4_ENST00000396914.3_Missense_Mutation_p.T79M	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	79	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GATCTCCTCCGTGCTATAGTG	0.522													11	29					0	0	0	0	A	14154580	G	A	14154580	3	1	368	1	0	0	0	0	1	0	0	0	3347	1145	40	1	196	1	CHCHD4	3	14154580	Missense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08		14154580	183867850	9	71417											
RBMS3	27303	broad.mit.edu	37	chr3	30032698	30032698	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatattcttaccaacagtcTaagtaagtctgggctgtgct	10	13	9	9	0	3	0	0	0	3	0	3	0	3	0	1	1	3	4	1	1	5	5			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:30032698T>C	ENST00000434693.2	+	14	2002	c.1302T>C	c.(1300-1302)tcT>tcC	p.S434S	RBMS3_ENST00000383767.2_Silent_p.S435S|RBMS3_ENST00000273139.9_Silent_p.S419S|RBMS3_ENST00000456853.1_Silent_p.S432S|RBMS3_ENST00000396583.3_Silent_p.S432S|RBMS3_ENST00000383766.2_Silent_p.S417S|RBMS3_ENST00000452462.1_Silent_p.S419S	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	435						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				ACCAACAGTCTAAGTAAGTCT	0.453													15	51					0	0	0	0	C	30032698	T	C	30032698	2	2	368	1	0	0	0	0	0	0	0	1	13232	1509	53	5		5	RBMS3	3	30032698	Silent	SNP	T	TCGA-D6-6825-01A-21D-1912-08	15878118	30032698	167989732	10	71418											
C3orf38	285237	broad.mit.edu	37	chr3	88202409	88202409	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcaatattagcatacagtCaaagtgcagaagaacttctg	16	10	8	7	0	2	2	1	0	1	2	2	2	2	2	0	0	5	3	0	0	7	4			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:88202409C>T	ENST00000318887.3	+	2	473	c.163C>T	c.(163-165)Caa>Taa	p.Q55*	C3orf38_ENST00000464919.1_3'UTR|C3orf38_ENST00000486971.1_Nonsense_Mutation_p.Q55*	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	55					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGCATACAGTCAAAGTGCAGA	0.383													8	32					0	0	0	0	T	88202409	C	T	88202409	4	4	368	1	0	0	0	0	0	1	0	0	2248	827	29	2	169	2	C3orf38	3	88202409	Nonsense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08	58169711	88202409	109820021	11	71419											
COL6A6	131873	broad.mit.edu	37	chr3	130289967	130289967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacatgttcactgaagccCggggcagccgcctgaacaag	11	5	11	14	2	1	2	1	2	0	0	1	2	1	2	4	2	3	2	4	2	3	1			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:130289967C>T	ENST00000358511.6	+	6	2738	c.2707C>T	c.(2707-2709)Cgg>Tgg	p.R903W	COL6A6_ENST00000453409.2_Missense_Mutation_p.R903W	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	903	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen		p.R903W(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CACTGAAGCCCGGGGCAGCCG	0.542													4	30					0	0	0	0	T	130289967	C	T	130289967	3	4	368	1	0	0	0	0	1	0	0	0	3733	643	23	1	2729	1	COL6A6	3	130289967	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08	42087558	130289967	67732463	12	71420											
SPSB4	92369	broad.mit.edu	37	chr3	140785630	140785630	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaccatgcgctacatcaaCggccttgaccgtaagttgtg	9	10	10	12	3	2	1	2	1	0	0	2	1	2	1	3	1	3	3	3	1	3	4			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:140785630C>T	ENST00000310546.2	+	2	1428	c.684C>T	c.(682-684)aaC>aaT	p.N228N		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	228	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCTACATCAACGGCCTTGACC	0.632													11	36					0	0	0	0	T	140785630	C	T	140785630	2	4	368	1	0	0	0	0	0	0	0	1	15205	535	19	1		1	SPSB4	3	140785630	Silent	SNP	C	TCGA-D6-6825-01A-21D-1912-08	10495663	140785630	57236800	13	71421											
NLGN1	22871	broad.mit.edu	37	chr3	173998386	173998386	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaactttatctccatattGgattaaaaccaagagttaaa	17	12	4	8	0	1	1	0	0	1	1	2	2	1	2	3	1	2	1	3	1	8	6			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:173998386G>T	ENST00000457714.1	+	7	2194	c.1765G>T	c.(1765-1767)Gga>Tga	p.G589*	NLGN1_ENST00000401917.3_Nonsense_Mutation_p.G629*|NLGN1_ENST00000545397.1_Nonsense_Mutation_p.G589*|NLGN1_ENST00000361589.4_Nonsense_Mutation_p.G589*	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	606					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCTCCATATTGGATTAAAACC	0.393													8	71					3.09899e-07	6.19797e-07	1	0	T	173998386	G	T	173998386	4	4	368	1	0	0	0	0	0	1	0	0	10531	1349	47	4	1783	4	NLGN1	3	173998386	Nonsense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08	33212756	173998386	24024044	14	71422											
CCDC50	152137	broad.mit.edu	37	chr3	191093280	191093280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcaaggaagttgtatatgGgagggaccatgggcaaggtg	11	8	17	5	0	0	0	0	0	0	0	0	3	0	3	1	5	1	4	1	5	5	3			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:191093280G>A	ENST00000392456.3	+	6	1468	c.878G>A	c.(877-879)gGg>gAg	p.G293E	CCDC50_ENST00000392455.3_Intron	NM_178335.2	NP_848018.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	24						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GTTGTATATGGGAGGGACCAT	0.517													20	37					0	0	0	0	A	191093280	G	A	191093280	3	1	368	1	0	0	0	0	1	0	0	0	2847	1232	43	4	900	4	CCDC50	3	191093280	Missense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08	17094894	191093280	6929150	15	71423											
GRXCR1	389207	broad.mit.edu	37	chr4	43022418	43022418	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaggagaactgcaagaCatcctaaccaaaattgaggt	17	7	9	8	0	1	3	1	1	0	2	2	5	2	3	2	2	3	1	2	2	6	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:43022418C>G	ENST00000399770.2	+	3	675	c.675C>G	c.(673-675)gaC>gaG	p.D225E		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	225	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AACTGCAAGACATCCTAACCA	0.308													8	32					0	0	0	0	G	43022418	C	G	43022418	3	3	368	1	0	0	0	0	1	0	0	0	6862	477	17	4	685	4	GRXCR1	4	43022418	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08		43022418	148131858	16	71424											
LNX1	84708	broad.mit.edu	37	chr4	54362403	54362403	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgagaatcacatgaaaGctgtcatctcggggtctgta	10	13	11	7	1	4	2	2	2	2	1	5	3	4	2	0	2	1	3	0	2	3	3			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:54362403G>A	ENST00000306888.2	-	5	1100	c.849C>T	c.(847-849)agC>agT	p.S283S	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Silent_p.S379S	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	379	PDZ 1.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCACATGAAAGCTGTCATCTC	0.542													25	95					0	0	0	0	A	54362403	G	A	54362403	2	1	368	1	0	0	0	0	0	0	0	1	8920	962	34	4		4	LNX1	4	54362403	Silent	SNP	G	TCGA-D6-6825-01A-21D-1912-08	11339985	54362403	136791873	17	71425											
AMBN	258	broad.mit.edu	37	chr4	71472228	71472228	+	Frame_Shift_Del	DEL	C	C	-																															tcagggaagatgaagggactCcccagcgtcaccccagcagc																										TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:71472228delC	ENST00000322937.6	+	13	1228	c.1125delC	c.(1123-1125)ctfs	p.L375fs	AMBN_ENST00000449493.2_Frame_Shift_Del_p.L360fs	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	375					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGAAGGGACTCCCCAGCGTCA	0.562													12	43	---	---	---	---					-	71472228	C	-	71472228	7	5	368	1	0	1	0	1	0	0	0	0	563	842	30	0	1175	0	AMBN	4	71472228	Frame_Shift_Del	DEL	C	TCGA-D6-6825-01A-21D-1912-08	17109825	71472228	119682048	18	71426											
SEC24B	10427	broad.mit.edu	37	chr4	110452620	110452620	+	Frame_Shift_Del	DEL	T	T	-																															gataaagtctcagccacttgTtcatctaatgaaaatgattc																										TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:110452620delT	ENST00000265175.5	+	20	3387	c.3332delT	c.(3331-3333)gtfs	p.V1111fs	SEC24B_ENST00000399100.2_Frame_Shift_Del_p.V1076fs|SEC24B_ENST00000504968.2_Frame_Shift_Del_p.V1141fs	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1111					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAGCCACTTGTTCATCTAATG	0.353													25	63	---	---	---	---					-	110452620	T	-	110452620	7	5	368	1	0	1	0	1	0	0	0	0	14082	1725	60	0	3410	0	SEC24B	4	110452620	Frame_Shift_Del	DEL	T	TCGA-D6-6825-01A-21D-1912-08	38980392	110452620	80701656	19	71427											
ADAM29	11086	broad.mit.edu	37	chr4	175898390	175898390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgatcatactactgtgCattgggctcgcttcaatgac	9	13	10	9	1	2	3	2	3	0	0	3	3	2	3	0	1	3	3	0	1	3	4	rs146793989		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:175898390C>A	ENST00000359240.3	+	5	2384	c.1714C>A	c.(1714-1716)Cat>Aat	p.H572N	ADAM29_ENST00000404450.4_Missense_Mutation_p.H572N|ADAM29_ENST00000445694.1_Missense_Mutation_p.H572N|ADAM29_ENST00000514159.1_Missense_Mutation_p.H572N	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	572	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TACTACTGTGCATTGGGCTCG	0.408													22	104					1.50039e-11	3.2368e-11	1	0	A	175898390	C	A	175898390	3	1	368	1	0	0	0	0	1	0	0	0	247	710	25	4	1716	4	ADAM29	4	175898390	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08	65445770	175898390	15255886	20	71428											
SEMA6A	57556	broad.mit.edu	37	chr5	115831982	115831982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattctgcatgtgtctacatCggcctgtctagatttccatg	7	15	8	11	1	3	1	0	0	3	1	5	1	4	1	2	1	2	1	2	1	2	4			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr5:115831982C>T	ENST00000343348.6	-	5	1094	c.307G>A	c.(307-309)Gat>Aat	p.D103N	CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000510263.1_Missense_Mutation_p.D103N|SEMA6A_ENST00000257414.8_Missense_Mutation_p.D103N	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	103	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTGTCTACatcggcctgtcta	0.418													16	88					0	0	0	0	T	115831982	C	T	115831982	3	4	368	1	0	0	0	0	1	0	0	0	14126	884	31	1	2845	1	SEMA6A	5	115831982	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08		115831982	65083278	21	71429											
FAM71B	153745	broad.mit.edu	37	chr5	156592924	156592924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgggccagaaccatgaCgtcaggcagtgggaggatgg	9	7	18	7	1	1	2	1	1	0	1	1	4	1	4	2	6	1	2	2	6	1	1			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr5:156592924C>T	ENST00000302938.4	-	1	351	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	86						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAACCATGACGTCAGGCAGT	0.542													19	76					0	0	0	0	T	156592924	C	T	156592924	3	4	368	1	0	0	0	0	1	0	0	0	5654	536	19	1	1569	1	FAM71B	5	156592924	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08	40760942	156592924	24322336	22	71430											
CLIC1	1192	broad.mit.edu	37	chr6	31698702	31698702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgaattcttcccgggCgtaggcattgctcaagtacc	9	9	12	11	3	2	0	1	0	1	0	3	2	3	1	2	3	3	4	2	3	5	5			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:31698702C>T	ENST00000375780.2	-	7	1215	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	CLIC1_ENST00000395892.1_Missense_Mutation_p.A215T|CLIC1_ENST00000375784.3_Missense_Mutation_p.A215T|CLIC1_ENST00000375779.2_Missense_Mutation_p.A215T			O00299	CLIC1_HUMAN	chloride intracellular channel 1	215	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						TCTTCCCGGGCGTAGGCATTG	0.582													11	49					0	0	0	0	T	31698702	C	T	31698702	3	4	368	1	0	0	0	0	1	0	0	0	3555	768	27	1	86	1	CLIC1	6	31698702	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08		31698702	139416365	23	71431											
EPHA7	2045	broad.mit.edu	37	chr6	93955064	93955064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaattgtagccagctgccGtgaaattatctttatatctt	10	15	9	7	1	2	1	0	1	2	0	2	2	2	2	2	1	3	2	2	1	6	7	rs151105732	byFrequency	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:93955064G>A	ENST00000369303.4	-	16	3018	c.2834C>T	c.(2833-2835)aCg>aTg	p.T945M		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	945	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCCAGCTGCCGTGAAATTATC	0.363													14	58					0	0	0	0	A	93955064	G	A	93955064	3	1	368	1	0	0	0	0	1	0	0	0	5210	1145	40	1	170	1	EPHA7	6	93955064	Missense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08	62256362	93955064	77160003	24	71432											
ENPP1	5167	broad.mit.edu	37	chr6	132204896	132204896	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttactacaaatatagtgccaAtgtaccagagttttcaaggt	14	13	7	7	0	1	1	1	0	0	1	1	1	1	1	2	1	4	2	2	1	8	7			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:132204896A>T	ENST00000360971.2	+	22	2313	c.2293A>T	c.(2293-2295)Atg>Ttg	p.M765L		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	765	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TATAGTGCCAATGTACCAGAG	0.279													13	70					0	0	0	0	T	132204896	A	T	132204896	3	4	368	1	0	0	0	0	1	0	0	0	5167	101	4	5	2379	5	ENPP1	6	132204896	Missense_Mutation	SNP	A	TCGA-D6-6825-01A-21D-1912-08	38249832	132204896	38910171	25	71433											
SASH1	23328	broad.mit.edu	37	chr6	148840732	148840732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtcctggatgaacggtcCgccctctactctggcgtgca	5	9	12	15	4	2	1	0	1	2	0	4	2	4	2	4	4	3	1	4	4	2	1	rs111245321		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:148840732C>T	ENST00000367467.3	+	10	1387	c.912C>T	c.(910-912)tcC>tcT	p.S304S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	304							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATGAACGGTCCGCCCTCTACT	0.537													10	40					0	0	0	0	T	148840732	C	T	148840732	2	4	368	1	0	0	0	0	0	0	0	1	13934	639	23	1		1	SASH1	6	148840732	Silent	SNP	C	TCGA-D6-6825-01A-21D-1912-08	16635836	148840732	22274335	26	71434											
SYNE1	23345	broad.mit.edu	37	chr6	152698022	152698022	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcctctgttctaggctctGctttttgcaaagcatccagt	7	15	8	11	0	3	0	0	0	3	0	5	1	5	0	2	1	3	5	2	1	2	4			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:152698022G>C	ENST00000367255.5	-	57	9636	c.9035C>G	c.(9034-9036)gCa>gGa	p.A3012G	SYNE1_ENST00000448038.1_Missense_Mutation_p.A3019G|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3019G|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3012G|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3051G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3012					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTAGGCTCTGCTTTTTGCAA	0.408										HNSCC(10;0.0054)			7	30					0	0	0	0	C	152698022	G	C	152698022	3	2	368	1	0	0	0	0	1	0	0	0	15536	1319	46	4	17791	4	SYNE1	6	152698022	Missense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08	3857290	152698022	18417045	27	71435											
GLCCI1	113263	broad.mit.edu	37	chr7	8095132	8095132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcacagtaaggagaaagatCgccagtcacctcttcatggc	12	8	10	11	1	4	2	3	0	1	2	5	3	4	2	2	2	0	1	2	2	2	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:8095132C>T	ENST00000223145.5	+	4	1323	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	256										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GGAGAAAGATCGCCAGTCACC	0.423													6	52					0	0	0	0	T	8095132	C	T	8095132	3	4	368	1	0	0	0	0	1	0	0	0	6482	884	31	1	780	1	GLCCI1	7	8095132	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08		8095132	151043531	28	71436											
VPS41	27072	broad.mit.edu	37	chr7	38835131	38835131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcagaggctgcagggataCatgtctgggcgaagacttat	11	8	14	8	1	1	2	0	0	1	2	1	4	1	3	0	3	3	3	0	3	3	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:38835131C>A	ENST00000310301.4	-	9	705	c.651G>T	c.(649-651)atG>atT	p.M217I	VPS41_ENST00000395969.2_Missense_Mutation_p.M192I|VPS41_ENST00000466017.1_5'UTR	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	217					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGCAGGGATACATGTCTGGGC	0.443													9	50					2.17888e-05	4.26882e-05	1	0	A	38835131	C	A	38835131	3	1	368	1	0	0	0	0	1	0	0	0	17306	478	17	4	1997	4	VPS41	7	38835131	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08	30739999	38835131	120303532	29	71437											
ZNF680	340252	broad.mit.edu	37	chr7	63982197	63982197	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtatgaattctcttaTggttagtaagggttgcaaac	11	14	9	7	0	1	1	0	1	1	0	3	1	2	1	1	2	2	5	1	2	6	6			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:63982197T>C	ENST00000309683.6	-	4	1086	c.935A>G	c.(934-936)cAt>cGt	p.H312R		NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				AATTCTCTTATGGTTAGTAAG	0.333													8	29					0	0	0	0	C	63982197	T	C	63982197	3	2	368	1	0	0	0	0	1	0	0	0	18182	1464	51	5	661	5	ZNF680	7	63982197	Missense_Mutation	SNP	T	TCGA-D6-6825-01A-21D-1912-08	25147066	63982197	95156466	30	71438											
MUC17	140453	broad.mit.edu	37	chr7	100679245	100679245	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgaaggaagcactgcattAacaagtatacctgtcagcac	15	8	9	9	0	1	1	1	1	0	0	1	2	1	2	1	1	5	4	1	1	6	3			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:100679245A>G	ENST00000306151.4	+	3	4612	c.4548A>G	c.(4546-4548)ttA>ttG	p.L1516L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1516	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACTGCATTAACAAGTATAC	0.483													55	234					0	0	0	0	G	100679245	A	G	100679245	2	3	368	1	0	0	0	0	0	0	0	1	10044	359	13	5		5	MUC17	7	100679245	Silent	SNP	A	TCGA-D6-6825-01A-21D-1912-08	36697048	100679245	58459418	31	71439											
PTPRZ1	5803	broad.mit.edu	37	chr7	121608117	121608117	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaaatgtgaatcttaagaaActtaaatttcagggttggga	15	13	10	3	0	2	2	1	1	1	1	2	3	2	3	0	2	1	2	0	2	7	5			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:121608117A>G	ENST00000393386.2	+	3	648	c.237A>G	c.(235-237)aaA>aaG	p.K79K	PTPRZ1_ENST00000449182.1_Silent_p.K79K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	79	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATCTTAAGAAACTTAAATTTC	0.299													17	51					0	0	0	0	G	121608117	A	G	121608117	2	3	368	1	0	0	0	0	0	0	0	1	12896	40	2	5		5	PTPRZ1	7	121608117	Silent	SNP	A	TCGA-D6-6825-01A-21D-1912-08	20928872	121608117	37530546	32	71440											
OR9A4	130075	broad.mit.edu	37	chr7	141619469	141619469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacgtgaaacccaagcaaaCgcaggcagctgattacaatt	15	7	8	11	2	0	2	0	2	0	0	0	2	0	2	1	1	6	4	1	1	6	3			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:141619469C>T	ENST00000548136.1	+	1	853	c.794C>T	c.(793-795)aCg>aTg	p.T265M	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCCAAGCAAACGCAGGCAGCT	0.478													12	66					0	0	0	0	T	141619469	C	T	141619469	3	4	368	1	0	0	0	0	1	0	0	0	11320	536	19	1	796	1	OR9A4	7	141619469	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08	20011352	141619469	17519194	33	71441											
RARRES2	5919	broad.mit.edu	37	chr7	150037213	150037213	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcctgactttgcactcGggtttcttccagtccctctt	3	16	9	13	1	2	1	0	1	2	0	5	1	4	1	3	2	1	2	3	2	0	5			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:150037213G>C	ENST00000466675.1	-	2	1288	c.255C>G	c.(253-255)ccC>ccG	p.P85P	RARRES2_ENST00000482669.1_Silent_p.P85P|RARRES2_ENST00000223271.3_Silent_p.P85P			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	85					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CTTTGCACTCGGGTTTCTTCC	0.582													9	566					0	0	0	0	C	150037213	G	C	150037213	2	2	368	1	0	0	0	0	0	0	0	1	13138	1103	39	3		3	RARRES2	7	150037213	Silent	SNP	G	TCGA-D6-6825-01A-21D-1912-08	8417744	150037213	9101450	34	71442											
VIPR2	7434	broad.mit.edu	37	chr7	158824757	158824757	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtggacttggccagccTcctgcacagaaggagatgag	10	6	15	10	1	0	3	0	1	0	2	1	6	1	4	3	3	3	1	3	3	1	1			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:158824757T>C	ENST00000262178.2	-	11	1158	c.971_splice	c.e11-1	p.R325_splice	VIPR2_ENST00000377633.3_Splice_Site_p.R309_splice|VIPR2_ENST00000402066.1_Splice_Site_p.R466_splice	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	325					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TTGGCCAGCCTCCTGCACAGA	0.602													6	35					0	0	0	0	C	158824757	T	C	158824757	5	2	368	1	0	0	0	0	0	0	1	0	17266	1565	54	5	355	5	VIPR2	7	158824757	Splice_Site	SNP	T	TCGA-D6-6825-01A-21D-1912-08	8787544	158824757	313906	35	71443											
ZFHX4	79776	broad.mit.edu	37	chr8	77616511	77616511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaagtgaagccttgctggGtttcagcgttgagaatgcag	11	10	13	7	1	1	2	1	2	0	1	1	3	1	2	1	1	4	4	1	1	4	3			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:77616511G>T	ENST00000521891.2	+	2	636	c.188G>T	c.(187-189)gGt>gTt	p.G63V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G63V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G63V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G63V|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	63						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTTGCTGGGTTTCAGCGTT	0.498										HNSCC(33;0.089)			21	78					1.40151e-16	3.05784e-16	1	0	T	77616511	G	T	77616511	3	4	368	1	0	0	0	0	1	0	0	0	17730	1261	44	4	190	4	ZFHX4	8	77616511	Missense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08		77616511	68747511	36	71444											
COL14A1	7373	broad.mit.edu	37	chr8	121239492	121239492	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagagcaggactcacatgttAttgaaggcctggagcccggt	11	8	13	9	1	1	2	1	1	0	1	1	4	1	4	2	4	2	2	2	4	3	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:121239492A>G	ENST00000297848.3	+	17	2308	c.2038A>G	c.(2038-2040)Att>Gtt	p.I680V	COL14A1_ENST00000247781.3_Missense_Mutation_p.I585V|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.I680V|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	680	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTCACATGTTATTGAAGGCCT	0.428													11	44					0	0	0	0	G	121239492	A	G	121239492	3	3	368	1	0	0	0	0	1	0	0	0	3701	449	16	5	2100	5	COL14A1	8	121239492	Missense_Mutation	SNP	A	TCGA-D6-6825-01A-21D-1912-08	43622981	121239492	25124530	37	71445											
ATAD2	29028	broad.mit.edu	37	chr8	124340642	124340642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttcttccaccgaagactctCctgtgtttccggtctcatta	6	16	6	13	2	3	1	1	0	3	1	7	2	5	1	4	1	0	1	4	1	2	4			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:124340642C>T	ENST00000287394.5	-	25	3763	c.3656G>A	c.(3655-3657)gGa>gAa	p.G1219E	ATAD2_ENST00000521903.1_Missense_Mutation_p.G537E	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CGAAGACTCTCCTGTGTTTCC	0.373													27	97					0	0	0	0	T	124340642	C	T	124340642	3	4	368	1	0	0	0	0	1	0	0	0	1075	855	30	2	532	2	ATAD2	8	124340642	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08	3101150	124340642	22023380	38	71446											
MYC	4609	broad.mit.edu	37	chr8	128750945	128750945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgccgccaagctcgtctCagagaagctggcctcctacc	7	6	11	17	3	1	1	1	0	1	1	4	2	2	1	6	2	3	2	6	2	3	1			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:128750945C>T	ENST00000377970.2	+	2	992	c.482C>T	c.(481-483)tCa>tTa	p.S161L	MYC_ENST00000524013.1_Missense_Mutation_p.S160L|MYC_ENST00000259523.6_Missense_Mutation_p.S146L	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	146					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAGCTCGTCTCAGAGAAGCTG	0.622		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	26					0	0	0	0	T	128750945	C	T	128750945	3	4	368	1	0	0	0	0	1	0	0	0	10086	838	29	2	488	2	MYC	8	128750945	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08	4410303	128750945	17613077	39	71447											
CDKN2A	1029	broad.mit.edu	37	chr9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacatcgcgatggcccagctCctcagccaggtccacgggca	8	5	12	16	3	1	0	1	0	0	0	4	2	3	0	4	3	2	2	4	3	0	0			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000361570.3_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			19	23					2.35188e-11	5.01735e-11	1	0	A	21971000	C	A	21971000	4	1	368	1	0	0	0	0	0	1	0	0	3190	864	30	2	120	2	CDKN2A	9	21971000	Nonsense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08		21971000	119242431	40	71448											
PTCH1	5727	broad.mit.edu	37	chr9	98229683	98229683	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggctgacccccagcaagcCcagaaaaaggaagatcacca	17	2	9	13	0	1	3	1	1	0	2	1	4	1	4	4	2	2	2	4	2	5	0			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr9:98229683C>G	ENST00000430669.2	-	15	2662	c.2077G>C	c.(2077-2079)Ggc>Cgc	p.G693R	PTCH1_ENST00000429896.2_Missense_Mutation_p.G608R|PTCH1_ENST00000375274.2_Missense_Mutation_p.G758R|PTCH1_ENST00000437951.1_Missense_Mutation_p.G693R|PTCH1_ENST00000418258.1_Missense_Mutation_p.G608R|PTCH1_ENST00000331920.6_Missense_Mutation_p.G759R|PTCH1_ENST00000421141.1_Missense_Mutation_p.G608R			Q13635	PTC1_HUMAN	patched 1	759					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCCAGCAAGCCCAGAAAAAGG	0.527													19	32					0	0	0	0	G	98229683	C	G	98229683	3	3	368	1	0	0	0	0	1	0	0	0	12809	623	22	4	2104	4	PTCH1	9	98229683	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08	76258683	98229683	42983748	41	71449											
GSN	2934	broad.mit.edu	37	chr9	124091523	124091523	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttccttcccagatcgaagAggttcctggtgagctcatgc	7	11	11	12	2	1	3	1	1	0	2	5	4	4	3	3	2	2	3	3	2	1	3			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr9:124091523A>G	ENST00000373823.3	+	23	2800	c.1895A>G	c.(1894-1896)gAg>gGg	p.E632G	GSN_ENST00000373807.1_Missense_Mutation_p.E414G|GSN_ENST00000449733.1_Missense_Mutation_p.E632G|GSN_ENST00000545652.1_Missense_Mutation_p.E640G|GSN_ENST00000373806.1_Missense_Mutation_p.E108G|GSN_ENST00000394353.2_Missense_Mutation_p.E643G|GSN_ENST00000341272.2_Missense_Mutation_p.E632G|GSN_ENST00000412819.1_Missense_Mutation_p.E632G|GSN_ENST00000373818.4_Missense_Mutation_p.E683G|GSN_ENST00000436847.1_Missense_Mutation_p.E643G|GSN_ENST00000373808.2_Missense_Mutation_p.E632G			P06396	GELS_HUMAN	gelsolin	683	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CAGATCGAAGAGGTTCCTGGT	0.577													35	40					0	0	0	0	G	124091523	A	G	124091523	3	3	368	1	0	0	0	0	1	0	0	0	6875	304	11	5	2134	5	GSN	9	124091523	Missense_Mutation	SNP	A	TCGA-D6-6825-01A-21D-1912-08	25861840	124091523	17121908	42	71450											
PLXDC2	84898	broad.mit.edu	37	chr10	20357118	20357118	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtgaatctgtccttcgAttttccattttatggccact	8	16	8	9	1	1	2	0	1	1	1	4	4	3	2	3	1	0	0	3	1	2	5			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:20357118A>G	ENST00000377252.3	+	4	1332	c.491A>G	c.(490-492)gAt>gGt	p.D164G	PLXDC2_ENST00000377242.3_Missense_Mutation_p.D115G|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	164						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTGTCCTTCGATTTTCCATTT	0.393													6	48					0	0	0	0	G	20357118	A	G	20357118	3	3	368	1	0	0	0	0	1	0	0	0	12190	333	12	5	505	5	PLXDC2	10	20357118	Missense_Mutation	SNP	A	TCGA-D6-6825-01A-21D-1912-08		20357118	115177629	43	71451											
RHOBTB1	9886	broad.mit.edu	37	chr10	62647977	62647977	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcccactcacccgagaaCgttcccttgctgagacactc	8	7	9	17	3	1	2	1	1	0	2	3	4	2	2	3	1	2	2	3	1	1	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:62647977C>T	ENST00000337910.5	-	6	1786	c.1449G>A	c.(1447-1449)acG>acA	p.T483T	RHOBTB1_ENST00000357917.4_Silent_p.T483T	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	483					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CACCCGAGAACGTTCCCTTGC	0.463													4	19					0	0	0	0	T	62647977	C	T	62647977	2	4	368	1	0	0	0	0	0	0	0	1	13416	523	19	1		1	RHOBTB1	10	62647977	Silent	SNP	C	TCGA-D6-6825-01A-21D-1912-08	42290859	62647977	72886770	44	71452											
PRF1	5551	broad.mit.edu	37	chr10	72358341	72358341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccctggtgggcacggcCggctgcagtccctccagcga	4	5	15	17	4	0	0	0	0	0	0	2	1	2	0	5	4	2	3	5	4	0	0			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:72358341C>T	ENST00000441259.1	-	3	1296	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	PRF1_ENST00000373209.2_Missense_Mutation_p.R379Q	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	379	EGF-like.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TGGGCACGGCCGGCTGCAGTC	0.701			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				4	22					0	0	0	0	T	72358341	C	T	72358341	3	4	368	1	0	0	0	0	1	0	0	0	12558	652	23	1	535	1	PRF1	10	72358341	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08	9710364	72358341	63176406	45	71453											
DOCK1	1793	broad.mit.edu	37	chr10	129209186	129209186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacccagacaatgaatttGcggtaaaaaacaaacaaacc	22	5	5	9	1	0	2	0	1	0	1	0	2	0	2	2	1	5	1	2	1	9	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:129209186G>A	ENST00000280333.6	+	43	4472	c.4363G>A	c.(4363-4365)Gcg>Acg	p.A1455T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1455	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAATGAATTTGCGGTAAAAAA	0.468													8	21					0	0	0	0	A	129209186	G	A	129209186	3	1	368	1	0	0	0	0	1	0	0	0	4720	1319	46	4	4533	4	DOCK1	10	129209186	Missense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08	56850845	129209186	6325561	46	71454											
SBF2	81846	broad.mit.edu	37	chr11	10064502	10064502	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcttcctctctctggaCagctgccacccgccaggctg	4	9	11	17	1	2	0	0	0	2	0	4	1	3	1	4	3	3	4	4	3	0	1			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:10064502C>A	ENST00000256190.8	-	3	305	c.168G>T	c.(166-168)ctG>ctT	p.L56L	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	56	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCTCTCTGGACAGCTGCCACC	0.378													11	45					0.000219431	0.000425564	1	0	A	10064502	C	A	10064502	2	1	368	1	0	0	0	0	0	0	0	1	13945	465	17	4		4	SBF2	11	10064502	Silent	SNP	C	TCGA-D6-6825-01A-21D-1912-08		10064502	124942014	47	71455											
NAV2	89797	broad.mit.edu	37	chr11	20139697	20139697	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaacatgctgatgaggCtgcaggaggcagccaactac	13	6	13	9	0	0	4	0	3	0	1	0	5	0	5	1	3	6	4	1	3	3	1			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:20139697C>T	ENST00000396085.1	+	39	7553	c.7192C>T	c.(7192-7194)Ctg>Ttg	p.L2398L	NAV2_ENST00000349880.4_Silent_p.L2395L|NAV2_ENST00000540292.1_Silent_p.L2385L|NAV2_ENST00000360655.4_Silent_p.L2331L|NAV2_ENST00000533917.1_Silent_p.L1459L|NAV2_ENST00000396087.3_Silent_p.L2454L|NAV2_ENST00000311043.8_Silent_p.L1459L|NAV2_ENST00000527559.2_Silent_p.L2383L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2454						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCTGATGAGGCTGCAGGAGGC	0.552													15	87					0	0	0	0	T	20139697	C	T	20139697	2	4	368	1	0	0	0	0	0	0	0	1	10254	796	28	4		4	NAV2	11	20139697	Silent	SNP	C	TCGA-D6-6825-01A-21D-1912-08	10075195	20139697	114866819	48	71456											
FIBIN	387758	broad.mit.edu	37	chr11	27016517	27016517	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaagttcaagcagggccaGgaacaggacagccggcagga	14	2	15	10	1	1	0	1	0	0	0	1	3	1	3	2	5	4	4	2	5	3	1			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:27016517G>A	ENST00000318627.2	+	1	890	c.444G>A	c.(442-444)caG>caA	p.Q148Q		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	148						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AGCAGGGCCAGGAACAGGACA	0.592													10	44					0	0	0	0	A	27016517	G	A	27016517	2	1	368	1	0	0	0	0	0	0	0	1	5930	991	35	4		4	FIBIN	11	27016517	Silent	SNP	G	TCGA-D6-6825-01A-21D-1912-08	6876820	27016517	107989999	49	71457											
CLSTN3	9746	broad.mit.edu	37	chr12	7289595	7289595	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctgggctctgggcccCaggacagcctcagtgaccac	6	6	15	14	0	2	1	1	1	1	0	2	2	2	2	4	4	1	2	4	4	0	0			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr12:7289595C>A	ENST00000537408.1	+	6	1673	c.1135C>A	c.(1135-1137)Cag>Aag	p.Q379K	CLSTN3_ENST00000266546.6_Missense_Mutation_p.Q367K			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	367					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTCTGGGCCCCAGGACAGCCT	0.592													18	57					3.41278e-10	7.2006e-10	1	0	A	7289595	C	A	7289595	3	1	368	1	0	0	0	0	1	0	0	0	3593	595	21	4	1125	4	CLSTN3	12	7289595	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08		7289595	126562300	50	71458											
CD163L1	283316	broad.mit.edu	37	chr12	7522012	7522012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactctgtccccagggtttgGcgtgacagtcccatagaaat	9	10	10	12	1	1	2	0	1	1	1	3	2	3	2	3	2	0	1	3	2	2	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr12:7522012G>A	ENST00000313599.3	-	15	4037	c.3980C>T	c.(3979-3981)gCc>gTc	p.A1327V	CD163L1_ENST00000396630.1_Missense_Mutation_p.A1327V|CD163L1_ENST00000416109.2_Missense_Mutation_p.A1337V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1327	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCAGGGTTTGGCGTGACAGTC	0.537													34	91					0	0	0	0	A	7522012	G	A	7522012	3	1	368	1	0	0	0	0	1	0	0	0	2997	1203	42	4	401	4	CD163L1	12	7522012	Missense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08	232417	7522012	126329883	51	71459											
GRIN2B	2904	broad.mit.edu	37	chr12	13715993	13715993	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggagcaagcactggtcGtccccaaaagtggggatgaa	12	6	13	10	1	0	1	0	1	0	0	2	3	1	3	3	4	2	2	3	4	4	0			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr12:13715993G>A	ENST00000279593.3	-	13	4388	c.4179C>T	c.(4177-4179)gaC>gaT	p.D1393D		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1393					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.D1393E(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCACTGGTCGTCCCCAAAAG	0.617													9	43					0	0	0	0	A	13715993	G	A	13715993	2	1	368	1	0	0	0	0	0	0	0	1	6830	1136	40	1		1	GRIN2B	12	13715993	Silent	SNP	G	TCGA-D6-6825-01A-21D-1912-08	6193981	13715993	120135902	52	71460											
C14orf105	55195	broad.mit.edu	37	chr14	57938207	57938207	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagagaagctgtccctGggcctcttgttcatgaagcc	7	10	11	13	0	2	2	1	1	1	1	4	3	4	2	4	1	2	2	4	1	2	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr14:57938207G>A	ENST00000216445.3	-	6	893	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	C14orf105_ENST00000534126.1_Nonsense_Mutation_p.Q252*|C14orf105_ENST00000422976.2_Nonsense_Mutation_p.Q293*	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	253										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						AGCTGTCCCTGGGCCTCTTGT	0.453													4	48					0	0	0	0	A	57938207	G	A	57938207	4	1	368	1	0	0	0	0	0	1	0	0	1749	1357	47	4	137	4	C14orf105	14	57938207	Nonsense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08		57938207	49411333	53	71461											
FLVCR2	55640	broad.mit.edu	37	chr14	76088433	76088433	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctatagcttggaattgcGattgggttcttggtccctcc	5	16	10	10	1	2	0	0	0	2	0	4	2	4	1	2	3	2	2	2	3	3	8	rs143118396		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr14:76088433G>A	ENST00000238667.4	+	2	1037	c.681G>A	c.(679-681)gcG>gcA	p.A227A	FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000553587.1_5'UTR|FLVCR2_ENST00000539311.1_Silent_p.A22A	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	227					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTGGAATTGCGATTGGGTTCT	0.433													33	208					0	0	0	0	A	76088433	G	A	76088433	2	1	368	1	0	0	0	0	0	0	0	1	5991	1045	37	1		1	FLVCR2	14	76088433	Silent	SNP	G	TCGA-D6-6825-01A-21D-1912-08	18150226	76088433	31261107	54	71462											
GABRB3	2562	broad.mit.edu	37	chr15	26866602	26866602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccactcgattgtcaagcGtgaggttgagagggatccca	10	8	13	10	2	1	2	1	2	0	1	3	5	2	3	2	2	2	1	2	2	1	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr15:26866602G>A	ENST00000541819.2	-	5	590	c.488C>T	c.(487-489)aCg>aTg	p.T163M	GABRB3_ENST00000311550.5_Missense_Mutation_p.T107M|GABRB3_ENST00000400188.3_Missense_Mutation_p.T36M|GABRB3_ENST00000299267.4_Missense_Mutation_p.T107M|GABRB3_ENST00000545868.1_Missense_Mutation_p.T22M			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	107					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)	ATTGTCAAGCGTGAGGTTGAG	0.428													18	76					0	0	0	0	A	26866602	G	A	26866602	3	1	368	1	0	0	0	0	1	0	0	0	6216	1145	40	1	1125	1	GABRB3	15	26866602	Missense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08		26866602	75664790	55	71463											
RYR3	6263	broad.mit.edu	37	chr15	34105782	34105782	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctacaacctgcccaggCaagtattttgtcttttttcc	7	16	5	13	0	2	0	0	0	2	0	4	0	3	0	3	1	3	2	3	1	4	7			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr15:34105782C>A	ENST00000389232.4	+	74	10572		c.e74+2		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGCCCAGGCAAGTATTTTG	0.502													14	62					4.3838e-07	8.67721e-07	1	0	A	34105782	C	A	34105782	5	1	368	1	0	0	0	0	0	0	1	0	13855	724	25	4	10798	4	RYR3	15	34105782	Splice_Site	SNP	C	TCGA-D6-6825-01A-21D-1912-08	7239180	34105782	68425610	56	71464											
NUSAP1	51203	broad.mit.edu	37	chr15	41643315	41643315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaccaagaagctgagaatGctgtttcctcaggtaaacgt	13	9	10	9	1	1	2	1	1	0	2	2	3	2	2	2	1	4	5	2	1	5	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr15:41643315G>A	ENST00000260359.6	+	4	655	c.391G>A	c.(391-393)Gct>Act	p.A131T	NUSAP1_ENST00000560747.1_Missense_Mutation_p.A145T|NUSAP1_ENST00000450318.1_Missense_Mutation_p.A146T|NUSAP1_ENST00000414849.2_Missense_Mutation_p.A146T|NUSAP1_ENST00000560177.1_Missense_Mutation_p.A145T|NUSAP1_ENST00000559596.1_Missense_Mutation_p.A146T|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450592.2_Missense_Mutation_p.A123T	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	146					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		AGCTGAGAATGCTGTTTCCTC	0.418													8	31					0	0	0	0	A	41643315	G	A	41643315	3	1	368	1	0	0	0	0	1	0	0	0	10849	1319	46	4	450	4	NUSAP1	15	41643315	Missense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08	7537533	41643315	60888077	57	71465											
TEKT5	146279	broad.mit.edu	37	chr16	10788316	10788316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcctctggcccaggttccGgcaggtgccctcctgcatct	4	9	11	17	1	2	0	0	0	2	0	4	0	4	0	5	4	3	3	5	4	0	1			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr16:10788316G>A	ENST00000283025.2	-	1	486	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	139					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CCCAGGTTCCGGCAGGTGCCC	0.617													5	175					0	0	0	0	A	10788316	G	A	10788316	3	1	368	1	0	0	0	0	1	0	0	0	15850	1115	39	1	1070	1	TEKT5	16	10788316	Missense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08		10788316	79566437	58	71466											
TP53	7157	broad.mit.edu	37	chr17	7578369	7578369	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagccccagctgctcAccatcgctatctgagcagcg	7	8	8	18	2	3	1	1	1	2	0	5	1	3	1	4	0	5	4	4	0	1	1			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:7578369A>C	ENST00000420246.2	-	5	692		c.e5+1		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(17)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCAGCTGCTCACCATCGCTAT	0.632		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	28					0	0	0	0	C	7578369	A	C	7578369	5	2	368	1	0	0	0	0	0	0	1	0	16476	173	6	5	737	5	TP53	17	7578369	Splice_Site	SNP	A	TCGA-D6-6825-01A-21D-1912-08		7578369	73616841	59	71467											
PSMD11	5717	broad.mit.edu	37	chr17	30771555	30771555	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtaagatggcggcggcggCggtggtggagttccagagag	7	6	21	7	5	0	2	0	0	0	2	1	4	1	3	1	8	0	2	1	8	1	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:30771555C>G	ENST00000261712.3	+	1	277	c.14C>G	c.(13-15)gCg>gGg	p.A5G	PSMD11_ENST00000457654.2_Missense_Mutation_p.A5G	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			gcggcggcggcggtggtggAG	0.701													10	11					0	0	0	0	G	30771555	C	G	30771555	3	3	368	1	0	0	0	0	1	0	0	0	12773	768	27	3	16	3	PSMD11	17	30771555	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08	23193186	30771555	50423655	60	71468											
EME1	146956	broad.mit.edu	37	chr17	48452586	48452586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgatggctctaaagaagtCatcaccctcactggattctg	11	11	8	11	0	5	2	3	1	2	1	5	3	5	3	1	2	0	1	1	2	3	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:48452586C>T	ENST00000393271.2	+	2	99	c.17C>T	c.(16-18)tCa>tTa	p.S6L	EME1_ENST00000511648.2_Missense_Mutation_p.S6L|EME1_ENST00000338165.4_Missense_Mutation_p.S6L	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	6					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CTAAAGAAGTCATCACCCTCA	0.428								Direct reversal of damage;Homologous recombination					13	58					0	0	0	0	T	48452586	C	T	48452586	3	4	368	1	0	0	0	0	1	0	0	0	5126	838	29	2	19	2	EME1	17	48452586	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08	17681031	48452586	32742624	61	71469											
PPM1E	22843	broad.mit.edu	37	chr17	57050198	57050198	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcattgctgtttaggatgaAaagcagagaattgaggccct	12	11	12	6	0	0	3	0	2	0	1	0	5	0	4	1	2	3	4	1	2	4	4			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:57050198A>G	ENST00000308249.2	+	6	1251	c.1122A>G	c.(1120-1122)gaA>gaG	p.E374E		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	383	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TTTAGGATGAAAAGCAGAGAA	0.398													31	49					0	0	0	0	G	57050198	A	G	57050198	2	3	368	1	0	0	0	0	0	0	0	1	12414	11	1	5		5	PPM1E	17	57050198	Silent	SNP	A	TCGA-D6-6825-01A-21D-1912-08	8597612	57050198	24145012	62	71470											
TRIM37	4591	broad.mit.edu	37	chr17	57158492	57158492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgatcagttccatgagaCgccgacgaagtttggctacc	10	9	11	11	3	1	2	1	2	0	1	2	5	2	2	3	1	2	4	3	1	2	3			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:57158492C>T	ENST00000376149.3	-	6	901	c.92G>A	c.(91-93)cGt>cAt	p.R31H	TRIM37_ENST00000393065.2_Missense_Mutation_p.R119H|TRIM37_ENST00000393066.3_Missense_Mutation_p.R153H|TRIM37_ENST00000262294.7_Missense_Mutation_p.R153H			O94972	TRI37_HUMAN	tripartite motif containing 37	153						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTCCATGAGACGCCGACGAAG	0.313									Mulibrey Nanism				40	55					0	0	0	0	T	57158492	C	T	57158492	3	4	368	1	0	0	0	0	1	0	0	0	16606	536	19	1	2520	1	TRIM37	17	57158492	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08	108294	57158492	24036718	63	71471											
ABCA10	10349	broad.mit.edu	37	chr17	67160232	67160232	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactattaaggttgttaaaaGaatggttttattgacttcat	13	18	7	3	0	1	2	1	1	0	1	1	2	1	2	0	2	1	3	0	2	7	9			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:67160232G>C	ENST00000269081.4	-	28	4255	c.3346C>G	c.(3346-3348)Ctt>Gtt	p.L1116V	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1116					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GTTGTTAAAAGAATGGTTTTA	0.313													11	39					0	0	0	0	C	67160232	G	C	67160232	3	2	368	1	0	0	0	0	1	0	0	0	29	942	33	2	1337	2	ABCA10	17	67160232	Missense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08	10001740	67160232	14034978	64	71472											
SDK2	54549	broad.mit.edu	37	chr17	71375666	71375666	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacacgctcatccgtatctcGtaccgcctgtgcttgttcag	6	13	8	14	4	3	0	2	0	1	0	5	0	4	0	3	0	3	5	3	0	3	5	rs141328074		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:71375666G>A	ENST00000392650.3	-	35	4785	c.4785C>T	c.(4783-4785)taC>taT	p.Y1595Y	SDK2_ENST00000388726.3_Silent_p.Y1576Y	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1595	Fibronectin type-III 10.				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						TCCGTATCTCGTACCGCCTGT	0.652													5	44					0	0	0	0	A	71375666	G	A	71375666	2	1	368	1	0	0	0	0	0	0	0	1	14056	1140	40	1		1	SDK2	17	71375666	Silent	SNP	G	TCGA-D6-6825-01A-21D-1912-08	4215434	71375666	9819544	65	71473											
ALKBH7	84266	broad.mit.edu	37	chr19	6374915	6374915	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggggccggcgcatctcCgtgatctgccgctccctccc	2	7	11	21	5	2	1	0	1	2	0	5	1	4	1	7	3	1	2	7	3	0	0			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:6374915C>G	ENST00000245812.3	+	4	985	c.597C>G	c.(595-597)tcC>tcG	p.S199S	ALKBH7_ENST00000599849.1_Silent_p.S138S|ALKBH7_ENST00000596657.1_Silent_p.S57S	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	199						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGCGCATCTCCGTGATCTGCC	0.637													15	41					0	0	0	0	G	6374915	C	G	6374915	2	3	368	1	0	0	0	0	0	0	0	1	532	639	23	3		3	ALKBH7	19	6374915	Silent	SNP	C	TCGA-D6-6825-01A-21D-1912-08		6374915	52754068	66	71474											
ZNF536	9745	broad.mit.edu	37	chr19	31039973	31039973	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggatgtccccatcctgatCcccgaaaccacgagtaagaa	13	6	9	13	2	0	2	0	1	0	1	3	6	3	3	6	1	1	1	6	1	3	1			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:31039973C>A	ENST00000355537.3	+	4	3594	c.3447C>A	c.(3445-3447)atC>atA	p.I1149I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCATCCTGATCCCCGAAACCA	0.552													12	59					2.80697e-09	5.79504e-09	1	0	A	31039973	C	A	31039973	2	1	368	1	0	0	0	0	0	0	0	1	18069	845	30	2		2	ZNF536	19	31039973	Silent	SNP	C	TCGA-D6-6825-01A-21D-1912-08	24665058	31039973	28089010	67	71475											
KCTD15	79047	broad.mit.edu	37	chr19	34297787	34297787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggataagccgcctcttcaatGgcactgaacccatcgtcctg	9	9	9	14	2	2	1	1	1	1	0	4	2	3	2	4	2	2	1	4	2	3	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:34297787G>A	ENST00000284006.5	+	5	514	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	KCTD15_ENST00000430256.2_Missense_Mutation_p.G88S|KCTD15_ENST00000589786.1_Missense_Mutation_p.G88S|KCTD15_ENST00000588881.1_Missense_Mutation_p.G88S	NM_001129994.1|NM_001129995.1|NM_024076.2	NP_001123466.1|NP_001123467.1|NP_076981.2	Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	88	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					CCTCTTCAATGGCACTGAACC	0.567													17	120					0	0	0	0	A	34297787	G	A	34297787	3	1	368	1	0	0	0	0	1	0	0	0	8155	1348	47	4	272	4	KCTD15	19	34297787	Missense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08	3257814	34297787	24831196	68	71476											
FAM98C	147965	broad.mit.edu	37	chr19	38897630	38897630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggacatctccattgcacaCgttctggctgcccgagccga	7	9	10	15	4	2	0	0	0	2	0	4	3	2	1	3	2	3	3	3	2	0	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:38897630C>T	ENST00000588262.1	+	4	449	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	FAM98C_ENST00000252530.5_Silent_p.H277H|FAM98C_ENST00000343358.7_Intron			Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	0										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCATTGCACACGTTCTGGCTG	0.612													32	102					0	0	0	0	T	38897630	C	T	38897630	3	4	368	1	0	0	0	0	1	0	0	0	5703	535	19	1	857	1	FAM98C	19	38897630	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08	4599843	38897630	20231353	69	71477											
SHANK1	50944	broad.mit.edu	37	chr19	51171632	51171634	+	In_Frame_Del	DEL	GCC	GCC	-																															ggggcggggctgggcgaggaGccgccgccgccgccgcctcc																										TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:51171632_51171634delGCC	ENST00000293441.1	-	22	3601_3603	c.3583_3585delGGC	c.(3583-3585)del	p.G1195del	SHANK1_ENST00000391814.1_In_Frame_Del_p.G1203del|SYT3_ENST00000544769.1_5'UTR|SHANK1_ENST00000391813.1_In_Frame_Del_p.G582del|SHANK1_ENST00000359082.3_In_Frame_Del_p.G1186del	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1195	Poly-Gly.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		tgggcgaggAGCCGCCGCCGCCG	0.808													2	4	---	---	---	---					-	51171634	GCC	-	51171632	7	5	368	1	0	1	0	1	0	0	0	0	14352	958	34	0	2908	0	SHANK1	19	51171632	In_Frame_Del	DEL	GCC	TCGA-D6-6825-01A-21D-1912-08	12274002	51171632	7957351	70	71478											
NLRP7	199713	broad.mit.edu	37	chr19	55435180	55435180	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaatagtcagcttgggattCttttctttcacttcctccaa	8	17	5	11	0	5	0	3	0	2	0	7	1	7	1	2	1	1	1	2	1	3	7			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:55435180C>T	ENST00000446217.1	-	13	3528	c.3126G>A	c.(3124-3126)aaG>aaA	p.K1042K	NLRP7_ENST00000328092.5_Silent_p.K986K|NLRP7_ENST00000592784.1_Silent_p.K1014K|NLRP7_ENST00000590030.1_Silent_p.K957K|NLRP7_ENST00000588756.1_Silent_p.K1014K|NLRP7_ENST00000340844.2_Silent_p.K957K|NLRP7_ENST00000448121.2_Silent_p.K986K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	0							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)		GCTTGGGATTCTTTTCTTTCA	0.448													35	67					0	0	0	0	T	55435180	C	T	55435180	2	4	368	1	0	0	0	0	0	0	0	1	10552	912	32	2		2	NLRP7	19	55435180	Silent	SNP	C	TCGA-D6-6825-01A-21D-1912-08	4263548	55435180	3693803	71	71479											
NLRP5	126206	broad.mit.edu	37	chr19	56520174	56520174	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacattcaccagaagatcctGaagcaacgatgactgaccaa	16	6	8	11	1	1	5	1	3	0	2	2	7	2	5	3	0	2	1	3	0	4	1			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:56520174G>C	ENST00000390649.3	+	3	463	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	155						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGAAGATCCTGAAGCAACGAT	0.478													3	22					0	0	0	0	C	56520174	G	C	56520174	3	2	368	1	0	0	0	0	1	0	0	0	10550	1291	45	2	473	2	NLRP5	19	56520174	Missense_Mutation	SNP	G	TCGA-D6-6825-01A-21D-1912-08	1084994	56520174	2608809	72	71480											
PAX1	5075	broad.mit.edu	37	chr20	21687260	21687260	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgcgctacaacgagacCggctccattctgcccggggc	6	6	13	16	5	1	1	0	0	1	1	2	2	2	1	3	4	3	2	3	4	2	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr20:21687260C>T	ENST00000398485.2	+	2	525	c.471C>T	c.(469-471)acC>acT	p.T157T	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.T133T	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	157	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACAACGAGACCGGCTCCATTC	0.657													13	52					0	0	0	0	T	21687260	C	T	21687260	2	4	368	1	0	0	0	0	0	0	0	1	11549	639	23	1		1	PAX1	20	21687260	Silent	SNP	C	TCGA-D6-6825-01A-21D-1912-08		21687260	41338260	73	71481											
TRPM2	7226	broad.mit.edu	37	chr21	45820227	45820227	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatgctggccttcccgcTgctcctcaccggcctcatct	3	11	9	18	2	3	0	2	0	1	0	5	0	5	0	5	2	3	4	5	2	0	1			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr21:45820227T>G	ENST00000397928.1	+	15	2739	c.2294T>G	c.(2293-2295)cTg>cGg	p.L765R	TRPM2_ENST00000300482.5_Missense_Mutation_p.L765R|TRPM2_ENST00000397932.2_Missense_Mutation_p.L765R|TRPM2_ENST00000300481.9_Missense_Mutation_p.L745R|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	765						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCCTTCCCGCTGCTCCTCACC	0.692													11	22					0	0	0	0	G	45820227	T	G	45820227	3	3	368	1	0	0	0	0	1	0	0	0	16681	1580	55	5	2352	5	TRPM2	21	45820227	Missense_Mutation	SNP	T	TCGA-D6-6825-01A-21D-1912-08		45820227	2309668	74	71482											
SCML2	10389	broad.mit.edu	37	chrX	18323203	18323203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagctccactccagccatCaaatgtgatatgaacttcat	15	10	5	11	0	2	2	2	2	0	0	4	2	4	2	3	0	3	1	3	0	5	2			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chrX:18323203C>T	ENST00000251900.4	-	7	778	c.619G>A	c.(619-621)Gat>Aat	p.D207N		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	207					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CTCCAGCCATCAAATGTGATA	0.458													50	74					0	0	0	0	T	18323203	C	T	18323203	3	4	368	1	0	0	0	0	1	0	0	0	13997	826	29	2	1519	2	SCML2	23	18323203	Missense_Mutation	SNP	C	TCGA-D6-6825-01A-21D-1912-08		18323203	136947357	75	71483											
PTCHD1	139411	broad.mit.edu	37	chrX	23411904	23411904	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgcatttctgtgctatgcTtaatttatggaattaattac	11	18	6	6	0	1	0	0	0	1	0	1	1	1	1	0	1	4	3	0	1	6	7			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chrX:23411904T>G	ENST00000379361.4	+	3	3129	c.2269T>G	c.(2269-2271)Tta>Gta	p.L757V		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	757					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGTGCTATGCTTAATTTATGG	0.378													19	22					0	0	0	0	G	23411904	T	G	23411904	3	3	368	1	0	0	0	0	1	0	0	0	12811	1606	56	5	2279	5	PTCHD1	23	23411904	Missense_Mutation	SNP	T	TCGA-D6-6825-01A-21D-1912-08	5088701	23411904	131858656	76	71484											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809462	18809462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgggccggccccaccGggggcagcaaggaccgcacg	6	2	18	15	4	0	0	0	0	0	0	0	1	0	1	5	6	1	4	5	6	1	0			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:18809462G>A	ENST00000400664.1	+	1	2039	c.1987G>A	c.(1987-1989)Ggg>Agg	p.G663R		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	663						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCCCCACCGGGGGCAGCAA	0.677													11	27					0	0	0	0	A	18809462	G	A	18809462	3	1	369	1	0	0	0	0	1	0	0	0	8412	1116	39	1	1989	1	KLHDC7A	1	18809462	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08		18809462	230441159	1	71485											
MAP3K6	9064	broad.mit.edu	37	chr1	27690468	27690468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggggctcagcagctccacGctgtccagtctccgctgcag	5	8	12	16	3	2	0	1	0	1	0	6	0	4	0	3	2	3	6	3	2	0	0			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:27690468G>A	ENST00000493901.1	-	6	1043	c.804C>T	c.(802-804)agC>agT	p.S268S	MAP3K6_ENST00000357582.2_Silent_p.S268S|MAP3K6_ENST00000374040.3_Silent_p.S260S	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	268					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGCTCCACGCTGTCCAGTC	0.647													7	17					0	0	0	0	A	27690468	G	A	27690468	2	1	369	1	0	0	0	0	0	0	0	1	9323	1078	38	1		1	MAP3K6	1	27690468	Silent	SNP	G	TCGA-D6-6826-01A-11D-1912-08	8881006	27690468	221560153	2	71486											
LRRC7	57554	broad.mit.edu	37	chr1	70502126	70502126	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcccctttaaatttcaGaatcaactgatgagtctgaa	13	15	5	8	0	3	4	2	3	1	1	4	4	4	4	2	0	1	0	2	0	5	5			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:70502126G>T	ENST00000310961.5	+	21	2426		c.e21-1		LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Splice_Site			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTAAATTTCAGAATCAACTGA	0.393													13	30					0.000151284	0.000273215	1	0	T	70502126	G	T	70502126	5	4	369	1	0	0	0	0	0	0	1	0	9084	956	33	2	2063	2	LRRC7	1	70502126	Splice_Site	SNP	G	TCGA-D6-6826-01A-11D-1912-08	42811658	70502126	178748495	3	71487											
NEXN	91624	broad.mit.edu	37	chr1	78392542	78392542	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagaaaacgtttagaagaaGagaagcgtgcttttgaagaa	18	8	11	4	2	0	6	0	1	0	5	0	7	0	6	0	0	3	2	0	0	9	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:78392542G>C	ENST00000330010.8	+	7	934	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	NEXN_ENST00000457030.1_Missense_Mutation_p.E263Q|NEXN_ENST00000334785.7_Missense_Mutation_p.E277Q	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	277	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TTTAGAAGAAGAGAAGCGTGC	0.363													13	67					0	0	0	0	C	78392542	G	C	78392542	3	2	369	1	0	0	0	0	1	0	0	0	10425	943	33	2	855	2	NEXN	1	78392542	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	7890416	78392542	170858079	4	71488											
DPYD	1806	broad.mit.edu	37	chr1	98039345	98039345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactcagaactgaaccaaagGcactgatgaccacatcggct	14	6	8	13	1	1	4	1	3	0	1	2	4	1	4	2	2	2	2	2	2	3	0			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:98039345G>A	ENST00000370192.3	-	11	1410	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	437					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	p.A437V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGAACCAAAGGCACTGATGAC	0.418													18	109					0	0	0	0	A	98039345	G	A	98039345	3	1	369	1	0	0	0	0	1	0	0	0	4781	1203	42	4	1819	4	DPYD	1	98039345	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	19646803	98039345	151211276	5	71489											
CAPZA1	829	broad.mit.edu	37	chr1	113209755	113209758	+	Frame_Shift_Del	DEL	ACTA	ACTA	-																															cataaagatgtacaggattcActaactgtttcggtgagtat																										TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:113209755_113209758delACTA	ENST00000263168.3	+	8	1317_1320	c.645_648delACTA	c.(643-648)tcfs	p.SL215fs	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	215					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAGGATTCACTAACTGTTTCGG	0.368													12	74	---	---	---	---					-	113209758	ACTA	-	113209755	7	5	369	1	0	1	0	1	0	0	0	0	2665	146	6	0	675	0	CAPZA1	1	113209755	Frame_Shift_Del	DEL	ACTA	TCGA-D6-6826-01A-11D-1912-08	15170410	113209755	136040866	6	71490											
LIX1L	128077	broad.mit.edu	37	chr1	145498680	145498680	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggagctggatgaagccCgactggcaggcaaggagctg	10	4	18	9	2	0	1	0	1	0	0	0	5	0	4	1	5	4	4	1	5	2	0			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:145498680C>T	ENST00000369308.3	+	6	990	c.916C>T	c.(916-918)Cga>Tga	p.R306*	RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse)-like	306										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGAAGCCCGACTGGCAGG	0.587													10	57					0	0	0	0	T	145498680	C	T	145498680	4	4	369	1	0	0	0	0	0	1	0	0	8887	644	23	1	938	1	LIX1L	1	145498680	Nonsense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	32288925	145498680	103751941	7	71491											
FLG	2312	broad.mit.edu	37	chr1	152282437	152282437	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcagagtgcccatgaCtggctctatcttcttgatgg	6	14	10	11	0	4	3	0	2	4	1	5	3	4	3	1	2	2	2	1	2	1	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:152282437C>G	ENST00000368799.1	-	3	4960	c.4925G>C	c.(4924-4926)aGt>aCt	p.S1642T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1642	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCCATGACTGGCTCTATC	0.557									Ichthyosis				47	323					0	0	0	0	G	152282437	C	G	152282437	3	3	369	1	0	0	0	0	1	0	0	0	5967	565	20	4	7264	4	FLG	1	152282437	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	6783757	152282437	96968184	8	71492											
CREB3L4	148327	broad.mit.edu	37	chr1	153945906	153945906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacgctaattgctcaaacttCcaacaaagctgcccagacca	14	7	6	14	1	1	1	1	0	0	1	2	2	2	1	3	0	5	3	3	0	4	3	rs146463170		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:153945906C>T	ENST00000368607.3	+	8	1129	c.863C>T	c.(862-864)tCc>tTc	p.S288F	CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000271889.4_Missense_Mutation_p.S288F|CREB3L4_ENST00000368603.1_Missense_Mutation_p.S288F|CREB3L4_ENST00000368600.3_Missense_Mutation_p.S268F|CREB3L4_ENST00000405694.3_Missense_Mutation_p.S141F	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	288					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTCAAACTTCCAACAAAGCT	0.522													16	78					0	0	0	0	T	153945906	C	T	153945906	3	4	369	1	0	0	0	0	1	0	0	0	3889	855	30	2	889	2	CREB3L4	1	153945906	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	1663469	153945906	95304715	9	71493											
FCRL2	79368	broad.mit.edu	37	chr1	157737023	157737023	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtaacacccacccacctGagatggagactggcactgcc	11	5	10	15	0	0	2	0	1	0	2	0	4	0	2	4	3	2	2	4	3	1	1			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:157737023G>C	ENST00000361516.3	-	6	1208	c.1160C>G	c.(1159-1161)tCa>tGa	p.S387*	FCRL2_ENST00000469986.1_Nonsense_Mutation_p.S134*|FCRL2_ENST00000392274.3_Nonsense_Mutation_p.S387*|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	387	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCACCCACCTGAGATGGAGAC	0.542													13	71					0	0	0	0	C	157737023	G	C	157737023	4	2	369	1	0	0	0	0	0	1	0	0	5840	1294	45	2	394	2	FCRL2	1	157737023	Nonsense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	3791117	157737023	91513598	10	71494											
MAEL	84944	broad.mit.edu	37	chr1	166991064	166991064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttacatgtcccaaaaagatgGatacaaatctttctcttcct	13	14	4	10	0	2	1	0	0	2	1	5	2	4	2	2	1	2	0	2	1	5	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:166991064G>C	ENST00000367872.4	+	12	1521	c.1277G>C	c.(1276-1278)gGa>gCa	p.G426A	MAEL_ENST00000367870.2_Missense_Mutation_p.G395A|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	426					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CAAAAAGATGGATACAAATCT	0.368													5	47					0	0	0	0	C	166991064	G	C	166991064	3	2	369	1	0	0	0	0	1	0	0	0	9219	1174	41	2	1323	2	MAEL	1	166991064	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	9254041	166991064	82259557	11	71495											
PARP1	142	broad.mit.edu	37	chr1	226564992	226564992	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccacacggccccaggacctGaatatccaatacctgcagtg	11	6	8	16	1	0	1	0	1	0	0	1	2	1	2	6	2	2	1	6	2	4	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:226564992G>C	ENST00000366794.5	-	13	1901	c.1758C>G	c.(1756-1758)ttC>ttG	p.F586L		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	586					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CCCAGGACCTGAATATCCAAT	0.507								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					3	199					0	0	0	0	C	226564992	G	C	226564992	3	2	369	1	0	0	0	0	1	0	0	0	11525	1281	45	2	1330	2	PARP1	1	226564992	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	59573928	226564992	22685629	12	71496											
ACTA1	58	broad.mit.edu	37	chr1	229568585	229568585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcttgctctgagcctcgtCgcccacgtaggaatctttct	5	14	8	14	3	4	1	0	1	4	0	7	2	4	2	2	1	2	2	2	1	2	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:229568585C>T	ENST00000366684.3	-	3	274	c.172G>A	c.(172-174)Gac>Aac	p.D58N	ACTA1_ENST00000366683.2_Missense_Mutation_p.D58N	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	58					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGAGCCTCGTCGCCCACGTAG	0.597													18	78					0	0	0	0	T	229568585	C	T	229568585	3	4	369	1	0	0	0	0	1	0	0	0	191	884	31	1	981	1	ACTA1	1	229568585	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	3003593	229568585	19682036	13	71497											
OR2T6	254879	broad.mit.edu	37	chr1	248551301	248551301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccatctgcaacccactgcGctatcctgtcctcatcagct	7	10	7	17	1	3	0	2	0	1	0	5	0	5	0	4	1	4	3	4	1	2	1			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:248551301G>A	ENST00000355728.2	+	1	392	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACCCACTGCGCTATCCTGTC	0.567													34	51					0	0	0	0	A	248551301	G	A	248551301	3	1	369	1	0	0	0	0	1	0	0	0	11100	1087	38	1	394	1	OR2T6	1	248551301	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	18982716	248551301	699320	14	71498											
OR2T34	127068	broad.mit.edu	37	chr1	248738034	248738034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgcttgctgtttgattctGagaagtctgattccctgagc	7	15	11	8	0	2	4	0	4	2	1	3	5	3	4	1	0	3	3	1	0	1	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:248738034G>C	ENST00000328782.2	-	1	46	c.25C>G	c.(25-27)Cag>Gag	p.Q9E		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTTTGATTCTGAGAAGTCTGA	0.443													3	60					0	0	0	0	C	248738034	G	C	248738034	3	2	369	1	0	0	0	0	1	0	0	0	11096	1299	45	2	935	2	OR2T34	1	248738034	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	186733	248738034	512587	15	71499											
ANTXR1	84168	broad.mit.edu	37	chr2	69302734	69302734	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcccaggctaataggtctCgagatcttggtgcaattgtt	8	15	10	8	1	2	1	0	0	2	1	4	2	3	1	1	3	1	3	1	3	3	6			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:69302734C>T	ENST00000303714.4	+	7	827	c.505C>T	c.(505-507)Cga>Tga	p.R169*	ANTXR1_ENST00000409829.3_Nonsense_Mutation_p.R169*|ANTXR1_ENST00000409349.3_Nonsense_Mutation_p.R169*	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	169	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TAATAGGTCTCGAGATCTTGG	0.418									Familial Infantile Hemangioma				20	151					0	0	0	0	T	69302734	C	T	69302734	4	4	369	1	0	0	0	0	0	1	0	0	710	876	31	1	531	1	ANTXR1	2	69302734	Nonsense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08		69302734	173896639	16	71500											
LRP2	4036	broad.mit.edu	37	chr2	170058335	170058335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtaagagtattggacacatCgcccattggcacaggtgaag	12	8	13	8	1	0	2	0	1	0	1	1	3	0	3	1	4	0	3	1	4	3	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:170058335C>T	ENST00000263816.3	-	44	8540	c.8255G>A	c.(8254-8256)cGa>cAa	p.R2752Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2752	LDL-receptor class A 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTGGACACATCGCCCATTGGC	0.483													9	33					0	0	0	0	T	170058335	C	T	170058335	3	4	369	1	0	0	0	0	1	0	0	0	9020	884	31	1	5856	1	LRP2	2	170058335	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	100755601	170058335	73141038	17	71501											
TTN	7273	broad.mit.edu	37	chr2	179542570	179542570	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttcctcttcaggaacaaTttcttcttcaaatagaactt	13	15	3	10	0	5	1	2	0	3	1	6	2	6	2	1	1	3	0	1	1	6	7			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:179542570T>C	ENST00000589042.1	-	146	34293	c.34069A>G	c.(34069-34071)Att>Gtt	p.I11357V	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I11040V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I10113V|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11040	Glu-rich.|Pro-rich.						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)			TCAGGAACAATTTCTTCTTCA	0.418													16	93					0	0	0	0	C	179542570	T	C	179542570	3	2	369	1	0	0	0	0	1	0	0	0	16831	1493	52	5	70328	5	TTN	2	179542570	Missense_Mutation	SNP	T	TCGA-D6-6826-01A-11D-1912-08	9484235	179542570	63656803	18	71502											
ZDBF2	57683	broad.mit.edu	37	chr2	207171531	207171531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgacccgcctcttctgtCagttactgagcagtctcatc	6	14	7	14	1	5	2	2	2	4	0	7	2	5	2	2	0	2	2	2	0	1	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:207171531C>T	ENST00000374423.3	+	5	2665	c.2279C>T	c.(2278-2280)tCa>tTa	p.S760L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	760							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTCTTCTGTCAGTTACTGAG	0.408													43	158					0	0	0	0	T	207171531	C	T	207171531	3	4	369	1	0	0	0	0	1	0	0	0	17694	838	29	2	2289	2	ZDBF2	2	207171531	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	27628961	207171531	36027842	19	71503											
ABCA12	26154	broad.mit.edu	37	chr2	215914369	215914369	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgggagaactgtttgtttAgttcttggagagaagactct	9	14	12	6	0	2	3	0	0	2	3	2	6	2	4	1	2	1	3	1	2	3	5			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:215914369A>G	ENST00000272895.7	-	6	893	c.674T>C	c.(673-675)cTa>cCa	p.L225P		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	225					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGTTTGTTTAGTTCTTGGAG	0.388													7	36					0	0	0	0	G	215914369	A	G	215914369	3	3	369	1	0	0	0	0	1	0	0	0	30	420	15	5	7336	5	ABCA12	2	215914369	Missense_Mutation	SNP	A	TCGA-D6-6826-01A-11D-1912-08	8742838	215914369	27285004	20	71504											
MON1A	84315	broad.mit.edu	37	chr3	49947692	49947692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcttgcgaaggcgctcctgGaagcggcggcggcagtcaga	7	5	17	12	6	1	1	1	0	0	1	2	3	2	2	1	5	2	3	1	5	2	1			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr3:49947692G>A	ENST00000417270.1	-	5	1956	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	MON1A_ENST00000455683.2_Silent_p.F348F|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Silent_p.F510F			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	413							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCGCTCCTGGAAGCGGCGGC	0.627													13	39					0	0	0	0	A	49947692	G	A	49947692	2	1	369	1	0	0	0	0	0	0	0	1	9768	1165	41	2		2	MON1A	3	49947692	Silent	SNP	G	TCGA-D6-6826-01A-11D-1912-08		49947692	148074738	21	71505											
KIAA1524	57650	broad.mit.edu	37	chr3	108271206	108271206	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttcttcttgtacttttgTtttttgatgcaaatcttaaa	8	23	4	6	0	3	1	0	1	3	0	3	1	3	1	0	0	2	3	0	0	4	11			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr3:108271206T>A	ENST00000295746.8	-	20	2498	c.2422A>T	c.(2422-2424)Aca>Tca	p.T808S	KIAA1524_ENST00000491772.1_Missense_Mutation_p.T649S	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	808						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTACTTTTGTTTTTTGATGC	0.313													4	13					0	0	0	0	A	108271206	T	A	108271206	3	1	369	1	0	0	0	0	1	0	0	0	8290	1725	60	5	303	5	KIAA1524	3	108271206	Missense_Mutation	SNP	T	TCGA-D6-6826-01A-11D-1912-08	58323514	108271206	89751224	22	71506											
ABCC5	10057	broad.mit.edu	37	chr3	183695333	183695333	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaacagccactgaggctTctgagagggactttactgaa	11	10	11	9	0	2	3	1	3	1	1	2	5	2	4	1	2	3	1	1	2	3	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr3:183695333T>C	ENST00000334444.6	-	10	1616	c.1376A>G	c.(1375-1377)gAa>gGa	p.E459G	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.E459G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	459	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CACTGAGGCTTCTGAGAGGGA	0.488													13	27					0	0	0	0	C	183695333	T	C	183695333	3	2	369	1	0	0	0	0	1	0	0	0	56	1783	62	5	3021	5	ABCC5	3	183695333	Missense_Mutation	SNP	T	TCGA-D6-6826-01A-11D-1912-08	75424127	183695333	14327097	23	71507											
GP5	2814	broad.mit.edu	37	chr3	194118222	194118222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagtcagattgtgcgaatGaagaaagagcgcagagggga	15	5	16	5	2	1	6	1	1	0	5	1	8	1	7	0	2	2	1	0	2	3	1			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr3:194118222G>A	ENST00000401815.1	-	1	861	c.790C>T	c.(790-792)Cat>Tat	p.H264Y	GP5_ENST00000323007.3_Missense_Mutation_p.H264Y			P40197	GPV_HUMAN	glycoprotein V (platelet)	264					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TTGTGCGAATGAAGAAAGAGC	0.602													13	70					0	0	0	0	A	194118222	G	A	194118222	3	1	369	1	0	0	0	0	1	0	0	0	6632	1290	45	2	896	2	GP5	3	194118222	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	10422889	194118222	3904208	24	71508											
SHISA3	152573	broad.mit.edu	37	chr4	42403311	42403311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagggctgagccgggctGcctggtgccctcaccgcccc	3	6	14	18	2	1	1	1	1	0	0	1	1	1	1	7	3	4	2	7	3	0	0			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:42403311G>T	ENST00000319234.4	+	2	778	c.560G>T	c.(559-561)tGc>tTc	p.C187F		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	187					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GAGCCGGGCTGCCTGGTGCCC	0.662													9	30					3.86212e-05	7.08055e-05	1	0	T	42403311	G	T	42403311	3	4	369	1	0	0	0	0	1	0	0	0	14369	1319	46	4	566	4	SHISA3	4	42403311	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08		42403311	148750965	25	71509											
SLC4A4	8671	broad.mit.edu	37	chr4	72121007	72121007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagacgtcacaagagaaaGacagggcacaaagaaaagaa	22	1	12	6	1	1	5	1	0	0	5	1	7	1	5	0	2	0	1	0	2	6	0			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:72121007G>T	ENST00000425175.1	+	3	261	c.144G>T	c.(142-144)aaG>aaT	p.K48N	SLC4A4_ENST00000351898.6_Missense_Mutation_p.K48N|SLC4A4_ENST00000264485.5_Missense_Mutation_p.K48N|SLC4A4_ENST00000514331.1_3'UTR	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	48						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ACAAGAGAAAGACAGGGCACA	0.438													38	119					1.30998e-17	2.61997e-17	1	0	T	72121007	G	T	72121007	3	4	369	1	0	0	0	0	1	0	0	0	14744	933	33	2	150	2	SLC4A4	4	72121007	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	29717696	72121007	119033269	26	71510											
ART3	419	broad.mit.edu	37	chr4	77003501	77003501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggctgctaatgaccagctCactgtgttatccatctacac	10	11	7	13	0	2	1	1	1	1	0	3	1	3	1	2	1	3	4	2	1	3	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:77003501C>T	ENST00000355810.4	+	3	713	c.594C>T	c.(592-594)ctC>ctT	p.L198L	ART3_ENST00000349321.3_Silent_p.L198L|ART3_ENST00000341029.5_Silent_p.L198L|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	198					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGACCAGCTCACTGTGTTAT	0.408													13	38					0	0	0	0	T	77003501	C	T	77003501	2	4	369	1	0	0	0	0	0	0	0	1	1002	813	29	2		2	ART3	4	77003501	Silent	SNP	C	TCGA-D6-6826-01A-11D-1912-08	4882494	77003501	114150775	27	71511											
UNC5C	8633	broad.mit.edu	37	chr4	96222864	96222864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagttcttccacttgctggCgcgaaatctcaatgctcact	9	12	8	12	2	3	1	2	0	2	1	5	2	4	1	1	1	2	3	1	1	2	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:96222864C>T	ENST00000453304.1	-	3	731	c.383G>A	c.(382-384)cGc>cAc	p.R128H	UNC5C_ENST00000506749.1_Missense_Mutation_p.R128H|UNC5C_ENST00000504962.1_Missense_Mutation_p.R128H	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	128	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CACTTGCTGGCGCGAAATCTC	0.473													13	28					0	0	0	0	T	96222864	C	T	96222864	3	4	369	1	0	0	0	0	1	0	0	0	17089	768	27	1	2468	1	UNC5C	4	96222864	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	19219363	96222864	94931412	28	71512											
ALPK1	80216	broad.mit.edu	37	chr4	113352354	113352354	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttcgagtctccttggatCaagatgtggagactgagact	10	12	11	8	1	2	3	1	1	1	3	4	7	2	4	1	2	0	0	1	2	1	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:113352354C>T	ENST00000458497.1	+	11	1930	c.1651C>T	c.(1651-1653)Caa>Taa	p.Q551*	ALPK1_ENST00000504176.2_Nonsense_Mutation_p.Q473*|ALPK1_ENST00000177648.9_Nonsense_Mutation_p.Q551*	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	551							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTCCTTGGATCAAGATGTGGA	0.493													9	69					0	0	0	0	T	113352354	C	T	113352354	4	4	369	1	0	0	0	0	0	1	0	0	544	827	29	2	1685	2	ALPK1	4	113352354	Nonsense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	17129490	113352354	77801922	29	71513											
ZNF827	152485	broad.mit.edu	37	chr4	146807275	146807275	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaagggcacagctggcaCtgaaaggtctctccccgatc	11	7	11	12	1	1	1	0	1	1	0	4	2	2	1	2	3	1	4	2	3	3	1			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:146807275C>A	ENST00000508784.1	-	4	1529	c.1302G>T	c.(1300-1302)caG>caT	p.Q434H	ZNF827_ENST00000513320.1_Missense_Mutation_p.Q84H|ZNF827_ENST00000379448.4_Missense_Mutation_p.Q434H			Q17R98	ZN827_HUMAN	zinc finger protein 827	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACAGCTGGCACTGAAAGGTCT	0.522													7	16					8.12818e-05	0.000147896	1	0	A	146807275	C	A	146807275	3	1	369	1	0	0	0	0	1	0	0	0	18273	564	20	4	1971	4	ZNF827	4	146807275	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	33454921	146807275	44347001	30	71514											
DCHS2	54798	broad.mit.edu	37	chr4	155157872	155157872	+	Silent	SNP	T	T	A																															atgacagctgtggaactcaaTggagggcagccactgtcaga																										TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:155157872T>A	ENST00000357232.3	-	25	6566	c.6567A>T	c.(6565-6567)ccA>ccT	p.P2189P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2189	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGAACTCAATGGAGGGCAGC	0.468													12	31					0	0	0	0	A	155157872	T	A	155157872	2	1	369	1	0	0	0	0	0	0	0	1	4320	1451	51	5		5	DCHS2	4	155157872	Silent	SNP	T	TCGA-D6-6826-01A-11D-1912-08	8350597	155157872	35996404	31	71515	982	2									
DCHS2	54798	broad.mit.edu	37	chr4	155157874	155157874	+	Missense_Mutation	SNP	G	G	A																															gacagctgtggaactcaatgGagggcagccactgtcagatg																										TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:155157874G>A	ENST00000357232.3	-	25	6564	c.6565C>T	c.(6565-6567)Cca>Tca	p.P2189S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2189	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAACTCAATGGAGGGCAGCCA	0.463													13	29					0	0	0	0	A	155157874	G	A	155157874	3	1	369	1	0	0	0	0	1	0	0	0	4320	1174	41	2	2189	2	DCHS2	4	155157874	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	2	155157874	35996402	32	71516	982	2									
FSTL5	56884	broad.mit.edu	37	chr4	162307346	162307346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtagtggccatctggagaGacatatggagtgcccgtcac	10	8	14	9	1	2	1	1	0	1	1	2	4	2	3	2	4	1	1	2	4	2	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:162307346G>A	ENST00000306100.5	-	16	2533	c.2097C>T	c.(2095-2097)gtC>gtT	p.V699V	FSTL5_ENST00000536695.1_Silent_p.V698V|FSTL5_ENST00000379164.4_Silent_p.V698V|FSTL5_ENST00000427802.2_Silent_p.V689V|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	699						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CATCTGGAGAGACATATGGAG	0.473													13	66					0	0	0	0	A	162307346	G	A	162307346	2	1	369	1	0	0	0	0	0	0	0	1	6128	929	33	2		2	FSTL5	4	162307346	Silent	SNP	G	TCGA-D6-6826-01A-11D-1912-08	7149472	162307346	28846930	33	71517											
DDX60	55601	broad.mit.edu	37	chr4	169215016	169215016	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacattctcaaagataatgaGcatgaagtaacacaaaagac	20	8	6	7	0	1	4	1	2	1	2	2	4	1	4	0	0	3	2	0	0	7	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:169215016G>A	ENST00000393743.3	-	7	1095	c.804C>T	c.(802-804)tgC>tgT	p.C268C		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	268							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAGATAATGAGCATGAAGTAA	0.413													14	78					0	0	0	0	A	169215016	G	A	169215016	2	1	369	1	0	0	0	0	0	0	0	1	4410	963	34	4		4	DDX60	4	169215016	Silent	SNP	G	TCGA-D6-6826-01A-11D-1912-08	6907670	169215016	21939260	34	71518											
TRIP13	9319	broad.mit.edu	37	chr5	908529	908529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccgagccatcagatgcCatccgcgtggtcaatgctgt	8	8	12	13	3	2	1	2	0	0	1	3	2	3	1	4	2	3	2	4	2	1	0			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:908529C>T	ENST00000166345.3	+	9	1175	c.819C>T	c.(817-819)gcC>gcT	p.A273A		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	273					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CATCAGATGCCATCCGCGTGG	0.542													13	73					0	0	0	0	T	908529	C	T	908529	2	4	369	1	0	0	0	0	0	0	0	1	16652	581	21	4		4	TRIP13	5	908529	Silent	SNP	C	TCGA-D6-6826-01A-11D-1912-08		908529	180006731	35	71519											
PRKAA1	5562	broad.mit.edu	37	chr5	40798208	40798208	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccagcgtgtcacccagAatgtagtggccgatcttcac	9	8	9	15	2	3	1	2	0	1	1	3	2	3	1	4	1	1	1	4	1	2	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:40798208A>G	ENST00000397128.2	-	1	92	c.84T>C	c.(82-84)atT>atC	p.I28I	PRKAA1_ENST00000354209.3_Silent_p.I28I|PRKAA1_ENST00000296800.4_Silent_p.I19I	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	28	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGTCACCCAGAATGTAGTGGC	0.642													8	32					0	0	0	0	G	40798208	A	G	40798208	2	3	369	1	0	0	0	0	0	0	0	1	12573	242	9	5		5	PRKAA1	5	40798208	Silent	SNP	A	TCGA-D6-6826-01A-11D-1912-08	39889679	40798208	140117052	36	71520											
BHMT2	23743	broad.mit.edu	37	chr5	78379594	78379594	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaggagctggccccagaaAggggctttttgccaccagct	9	7	13	12	0	0	2	0	0	0	2	0	3	0	3	4	4	3	3	4	4	1	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:78379594A>G	ENST00000255192.3	+	7	991	c.925A>G	c.(925-927)Agg>Ggg	p.R309G	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.R245G	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	309					methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGCCCCAGAAAGGGGCTTTTT	0.537													6	32					0	0	0	0	G	78379594	A	G	78379594	3	3	369	1	0	0	0	0	1	0	0	0	1431	63	3	5	951	5	BHMT2	5	78379594	Missense_Mutation	SNP	A	TCGA-D6-6826-01A-11D-1912-08	37581386	78379594	102535666	37	71521											
CMYA5	202333	broad.mit.edu	37	chr5	79028659	79028659	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaacaactacagcatcTgtaactaagcttgattcaaa	15	11	4	11	0	3	1	2	1	1	0	4	1	4	1	1	0	6	3	1	0	6	5			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:79028659T>C	ENST00000446378.2	+	2	4102	c.4071T>C	c.(4069-4071)tcT>tcC	p.S1357S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1357						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTACAGCATCTGTAACTAAGC	0.373													9	33					0	0	0	0	C	79028659	T	C	79028659	2	2	369	1	0	0	0	0	0	0	0	1	3620	1567	55	5		5	CMYA5	5	79028659	Silent	SNP	T	TCGA-D6-6826-01A-11D-1912-08	649065	79028659	101886601	38	71522											
PAM	5066	broad.mit.edu	37	chr5	102342680	102342680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaggattgtgcagttttCaccaagtggaaagttcatca	12	11	10	8	0	3	0	3	0	0	0	3	2	3	2	1	2	2	4	1	2	2	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:102342680C>T	ENST00000438793.3	+	18	2449	c.1979C>T	c.(1978-1980)tCa>tTa	p.S660L	PAM_ENST00000379787.4_Missense_Mutation_p.S40L|PAM_ENST00000346918.2_Missense_Mutation_p.S660L|PAM_ENST00000274392.9_Missense_Mutation_p.S563L|PAM_ENST00000304400.7_Missense_Mutation_p.S660L|PAM_ENST00000455264.2_Missense_Mutation_p.S660L|PAM_ENST00000348126.2_Missense_Mutation_p.S553L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	660	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GTGCAGTTTTCACCAAGTGGA	0.438													13	66					0	0	0	0	T	102342680	C	T	102342680	3	4	369	1	0	0	0	0	1	0	0	0	11483	838	29	2	2049	2	PAM	5	102342680	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	23314021	102342680	78572580	39	71523											
PCDHGC5	56097	broad.mit.edu	37	chr5	140871168	140871168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggacggcagtgacttCacttttctaagacccctcag	8	10	9	14	2	3	2	2	1	1	1	4	3	3	3	3	2	0	1	3	2	1	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:140871168C>A	ENST00000252087.1	+	1	2361	c.2361C>A	c.(2359-2361)ttC>ttA	p.F787L	PCDHGA12_ENST00000252085.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		787					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGTGACTTCACTTTTCTAA	0.632													9	45					3.07112e-06	5.67336e-06	1	0	A	140871168	C	A	140871168	3	1	369	1	0	0	0	0	1	0	0	0	11642	825	29	2	2363	2	PCDHGC5	5	140871168	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	38528488	140871168	40044092	40	71524											
HAND1	9421	broad.mit.edu	37	chr5	153855399	153855399	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagcgcccagacttgctgCggccagccggtgcgtccttt	4	9	12	16	4	0	1	0	0	0	1	2	1	2	1	5	2	5	1	5	2	0	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:153855399C>T	ENST00000231121.2	-	2	870	c.615G>A	c.(613-615)ccG>ccA	p.P205P		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	205					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGACTTGCTGCGGCCAGCCGG	0.632													8	31					0	0	0	0	T	153855399	C	T	153855399	2	4	369	1	0	0	0	0	0	0	0	1	6999	755	27	1		1	HAND1	5	153855399	Silent	SNP	C	TCGA-D6-6826-01A-11D-1912-08	12984231	153855399	27059861	41	71525											
BTN1A1	696	broad.mit.edu	37	chr6	26509261	26509261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaattgctgatgggcctgaGagggtcacagtcattgctaa	10	10	12	9	0	2	2	2	2	0	1	2	3	2	2	2	2	2	2	2	2	2	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr6:26509261G>C	ENST00000244513.6	+	7	1506	c.1440G>C	c.(1438-1440)gaG>gaC	p.E480D		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	480						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						ATGGGCCTGAGAGGGTCACAG	0.552													14	54					0	0	0	0	C	26509261	G	C	26509261	3	2	369	1	0	0	0	0	1	0	0	0	1568	933	33	2	1466	2	BTN1A1	6	26509261	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08		26509261	144605806	42	71526											
DDR1	780	broad.mit.edu	37	chr6	30866738	30866738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgctgatgctctgtagggCccagccctttgggcagctca	5	10	14	12	0	2	1	1	1	1	0	2	1	2	1	2	3	4	5	2	3	1	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr6:30866738C>T	ENST00000324771.8	+	19	3073	c.2525C>T	c.(2524-2526)gCc>gTc	p.A842V	DDR1_ENST00000418800.2_Missense_Mutation_p.A805V|DDR1_ENST00000513240.1_Missense_Mutation_p.A848V|DDR1_ENST00000508312.1_Missense_Mutation_p.A823V|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376567.2_Missense_Mutation_p.A805V|DDR1_ENST00000376569.3_Missense_Mutation_p.A805V|DDR1_ENST00000376575.3_Missense_Mutation_p.A848V|DDR1_ENST00000376570.4_Missense_Mutation_p.A805V|DDR1_ENST00000454612.2_Missense_Mutation_p.A805V|DDR1_ENST00000452441.1_Missense_Mutation_p.A842V|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376568.3_Missense_Mutation_p.A842V			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	842	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTCTGTAGGGCCCAGCCCTTT	0.617													19	69					0	0	0	0	T	30866738	C	T	30866738	3	4	369	1	0	0	0	0	1	0	0	0	4368	739	26	4	2605	4	DDR1	6	30866738	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	4357477	30866738	140248329	43	71527											
CRISP3	10321	broad.mit.edu	37	chr6	49703279	49703279	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtttgcccacttttgggcaTttgctgcagcctctttgttc	3	17	10	11	0	1	0	0	0	1	0	2	0	1	0	2	2	4	5	2	2	0	6			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr6:49703279T>C	ENST00000433368.2	-	4	353	c.284A>G	c.(283-285)aAt>aGt	p.N95S	CRISP3_ENST00000263045.4_Missense_Mutation_p.N85S|CRISP3_ENST00000371159.4_Missense_Mutation_p.N103S|CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000393666.1_Missense_Mutation_p.N72S	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	72					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTTTTGGGCATTTGCTGCAGC	0.368													21	97					0	0	0	0	C	49703279	T	C	49703279	3	2	369	1	0	0	0	0	1	0	0	0	3911	1493	52	5	542	5	CRISP3	6	49703279	Missense_Mutation	SNP	T	TCGA-D6-6826-01A-11D-1912-08	18836541	49703279	121411788	44	71528											
TBX18	9096	broad.mit.edu	37	chr6	85472362	85472362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggggcctgcggcgagggcaGaggggtcccgggccgggcca	4	2	22	13	5	0	1	0	0	0	1	1	2	1	1	4	8	1	1	4	8	0	0			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr6:85472362G>C	ENST00000369663.5	-	2	734	c.397C>G	c.(397-399)Ctg>Gtg	p.L133V	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	133					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGCGAGGGCAGAGGGGTCCCG	0.697													10	57					0	0	0	0	C	85472362	G	C	85472362	3	2	369	1	0	0	0	0	1	0	0	0	15747	933	33	2	1454	2	TBX18	6	85472362	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	35769083	85472362	85642705	45	71529											
RNF216	54476	broad.mit.edu	37	chr7	5780720	5780720	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaaaggctggacctggctCttcatcatcacttgctaact	9	12	9	11	0	4	0	3	0	1	0	4	2	4	2	1	4	2	3	1	4	2	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:5780720C>G	ENST00000425013.2	-	4	981	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	RNF216_ENST00000389902.3_Missense_Mutation_p.E310Q	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	253					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GGACCTGGCTCTTCATCATCA	0.517													10	94					0	0	0	0	G	5780720	C	G	5780720	3	3	369	1	0	0	0	0	1	0	0	0	13565	922	32	2	1899	2	RNF216	7	5780720	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08		5780720	153357943	46	71530											
THSD7A	221981	broad.mit.edu	37	chr7	11514030	11514030	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcatgccgacagagCaggaggcctccccattccaa	9	8	10	14	1	1	1	0	0	1	1	3	3	3	2	5	2	3	2	5	2	1	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:11514030C>A	ENST00000423059.3	-	8	2434	c.2183G>T	c.(2182-2184)tGc>tTc	p.C728F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	728	TSP type-1 7.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCGACAGAGCAGGAGGCCTC	0.507										HNSCC(18;0.044)			16	67					0.000566183	0.000992872	1	0	A	11514030	C	A	11514030	3	1	369	1	0	0	0	0	1	0	0	0	15973	710	25	4	2870	4	THSD7A	7	11514030	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	5733310	11514030	147624633	47	71531											
CPVL	54504	broad.mit.edu	37	chr7	29035453	29035453	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcatgtcaaaagctctcaGaggctggtcatagggtaaaa	15	9	10	7	0	4	1	4	0	1	1	5	1	4	1	0	3	1	3	0	3	6	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:29035453G>C	ENST00000409850.1	-	17	2012	c.1366C>G	c.(1366-1368)Ctg>Gtg	p.L456V	CPVL_ENST00000265394.5_Missense_Mutation_p.L456V|CPVL_ENST00000396276.3_Missense_Mutation_p.L456V			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	456					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AAAGCTCTCAGAGGCTGGTCA	0.343													4	35					0	0	0	0	C	29035453	G	C	29035453	3	2	369	1	0	0	0	0	1	0	0	0	3865	933	33	2	68	2	CPVL	7	29035453	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	17521423	29035453	130103210	48	71532											
FKBP9	11328	broad.mit.edu	37	chr7	33028259	33028259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggggtatggagaggaagGaagaggtgagcatcagcatc	12	6	17	6	0	1	3	1	1	0	2	2	6	1	5	1	6	2	3	1	6	3	1			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:33028259G>T	ENST00000242209.4	+	6	1203	c.1034G>T	c.(1033-1035)gGa>gTa	p.G345V	FKBP9_ENST00000538443.1_Missense_Mutation_p.G207V|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538336.1_Missense_Mutation_p.G398V|FKBP9_ENST00000490776.2_Missense_Mutation_p.G113V	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	345	PPIase FKBP-type 3.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GGAGAGGAAGGAAGAGGTGAG	0.488													10	54					1.76689e-08	3.39356e-08	1	0	T	33028259	G	T	33028259	3	4	369	1	0	0	0	0	1	0	0	0	5960	1174	41	2	1056	2	FKBP9	7	33028259	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	3992806	33028259	126110404	49	71533											
ZP3	7784	broad.mit.edu	37	chr7	76062842	76062842	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctgggagatgcagcccaCctccaggcagaaatccacac	12	4	9	16	0	0	2	0	0	0	2	2	3	2	2	5	2	2	2	5	2	1	0			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:76062842C>G	ENST00000416245.1	+	3	1156	c.63C>G	c.(61-63)caC>caG	p.H21Q	ZP3_ENST00000394857.3_Missense_Mutation_p.H197Q|ZP3_ENST00000336517.4_Missense_Mutation_p.H146Q			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	197					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						ATGCAGCCCACCTCCAGGCAG	0.587													14	109					0	0	0	0	G	76062842	C	G	76062842	3	3	369	1	0	0	0	0	1	0	0	0	18310	506	18	4	605	4	ZP3	7	76062842	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	43034583	76062842	83075821	50	71534											
ABCB4	5244	broad.mit.edu	37	chr7	87035604	87035604	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctactctttaacttacGtggggtaacgtctcgatgaa	10	13	9	9	3	3	1	1	1	2	0	4	2	3	1	0	2	5	2	0	2	5	5			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:87035604G>A	ENST00000265723.4	-	26	3618	c.3507_splice	c.e26+1	p.H1169_splice	ABCB4_ENST00000359206.3_Splice_Site_p.H1162_splice|ABCB4_ENST00000358400.3_Splice_Site_p.H1115_splice|ABCB4_ENST00000545634.1_Splice_Site_p.H1162_splice|ABCB4_ENST00000453593.1_Splice_Site_p.H1115_splice	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1169	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTTAACTTACGTGGGGTAACG	0.393													19	175					0	0	0	0	A	87035604	G	A	87035604	5	1	369	1	0	0	0	0	0	0	1	0	43	1159	40	1	365	1	ABCB4	7	87035604	Splice_Site	SNP	G	TCGA-D6-6826-01A-11D-1912-08	10972762	87035604	72103059	51	71535											
TAF6	6878	broad.mit.edu	37	chr7	99711874	99711874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggaaggatgaagcccccGgtggagagacggagaccctg	10	4	16	11	2	0	3	0	1	0	2	0	8	0	6	4	5	1	0	4	5	2	0			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:99711874G>A	ENST00000472509.1	-	1	307	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	TAF6_ENST00000344095.4_5'UTR|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000437822.2_Missense_Mutation_p.R24W|TAF6_ENST00000497233.1_5'UTR|TAF6_ENST00000452041.1_5'UTR|TAF6_ENST00000453269.2_5'UTR			P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	0					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAAGCCCCCGGTGGAGAGAC	0.572													4	45					0	0	0	0	A	99711874	G	A	99711874	3	1	369	1	0	0	0	0	1	0	0	0	15621	1131	39	1		1	TAF6	7	99711874	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	12676270	99711874	59426789	52	71536											
SSPO	23145	broad.mit.edu	37	chr7	149489170	149489170	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagccttgccctcaggaCggctgccccaatgccacttg	7	8	10	16	1	2	1	2	0	0	1	2	2	2	2	5	2	4	1	5	2	1	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:149489170C>T	ENST00000378016.2	+	0	5415							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCTCAGGACGGCTGCCCCA	0.632													11	56					0	0	0	0	T	149489170	C	T	149489170	1	4	369	0	1	0	0	0	0	0	0	0	15279	535	19	1		1	SSPO	7	149489170	RNA	SNP	C	TCGA-D6-6826-01A-11D-1912-08	49777296	149489170	9649493	53	71537											
HNF4G	3174	broad.mit.edu	37	chr8	76476246	76476246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actcccttccccaccacaagGctctgggcaagaacagtaca	12	6	7	16	0	1	1	0	0	1	1	3	1	3	1	4	2	2	3	4	2	4	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr8:76476246G>T	ENST00000396423.2	+	10	1377	c.1253G>T	c.(1252-1254)gGc>gTc	p.G418V	HNF4G_ENST00000354370.1_Missense_Mutation_p.G381V	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	381					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.G381D(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CCACCACAAGGCTCTGGGCAA	0.448													21	138					1.96292e-10	3.83086e-10	1	0	T	76476246	G	T	76476246	3	4	369	1	0	0	0	0	1	0	0	0	7304	1203	42	4	1291	4	HNF4G	8	76476246	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08		76476246	69887776	54	71538											
PDP1	54704	broad.mit.edu	37	chr8	94934378	94934378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgttactgccaccacaaaCatctctgttgttcctcatcg	9	13	5	14	1	2	0	1	0	1	0	5	0	3	0	3	0	3	3	3	0	2	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr8:94934378C>T	ENST00000396200.3	+	3	442	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	PDP1_ENST00000297598.4_Missense_Mutation_p.H31Y|PDP1_ENST00000520728.1_Missense_Mutation_p.H31Y|PDP1_ENST00000517764.1_Missense_Mutation_p.H31Y	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	31					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCACCACAAACATCTCTGTTG	0.483													10	100					0	0	0	0	T	94934378	C	T	94934378	3	4	369	1	0	0	0	0	1	0	0	0	11756	478	17	4	274	4	PDP1	8	94934378	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	18458132	94934378	51429644	55	71539											
ASAP1	50807	broad.mit.edu	37	chr8	131127878	131127878	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatttacactcactttgTcatccagatcatcatcgctc	11	14	3	13	1	4	1	4	0	0	1	7	1	5	1	1	0	1	1	1	0	2	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr8:131127878T>A	ENST00000357668.1	-	22	2195	c.2168A>T	c.(2167-2169)gAc>gTc	p.D723V	ASAP1_ENST00000518721.1_Missense_Mutation_p.D723V			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	723					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ACTCACTTTGTCATCCAGATC	0.413													71	233					0	0	0	0	A	131127878	T	A	131127878	3	1	369	1	0	0	0	0	1	0	0	0	1014	1667	58	5	1253	5	ASAP1	8	131127878	Missense_Mutation	SNP	T	TCGA-D6-6826-01A-11D-1912-08	36193500	131127878	15236144	56	71540											
FAM135B	51059	broad.mit.edu	37	chr8	139165105	139165105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctggacctggactccttCtagaagtatccacatctgcc	8	11	7	15	0	3	1	0	0	3	1	5	3	5	3	5	2	1	1	5	2	3	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr8:139165105C>T	ENST00000395297.1	-	13	1783	c.1613G>A	c.(1612-1614)aGa>aAa	p.R538K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	538										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGACTCCTTCTAGAAGTATC	0.502										HNSCC(54;0.14)			8	91					0	0	0	0	T	139165105	C	T	139165105	3	4	369	1	0	0	0	0	1	0	0	0	5490	913	32	2	2639	2	FAM135B	8	139165105	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	8037227	139165105	7198917	57	71541											
KIAA0368	23392	broad.mit.edu	37	chr9	114184479	114184479	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgaataaatgtggcatccGactgcaaaagaatgtaaaaa	19	8	9	5	1	0	2	0	1	0	1	1	3	1	2	1	1	1	3	1	1	9	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr9:114184479G>A	ENST00000259335.4	-	15	1800	c.1799_splice	c.e15-1	p.R601_splice	KIAA0368_ENST00000338205.5_Splice_Site_p.R423_splice	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGTGGCATCCGACTGCAAAAG	0.353													14	56					0	0	0	0	A	114184479	G	A	114184479	5	1	369	1	0	0	0	0	0	0	1	0	8222	1072	37	1	4400	1	KIAA0368	9	114184479	Splice_Site	SNP	G	TCGA-D6-6826-01A-11D-1912-08		114184479	27028952	58	71542											
GBF1	8729	broad.mit.edu	37	chr10	104128578	104128578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctatgcaaattcacagctCtcagcagtgaggtgagcagg	11	9	11	10	0	3	2	2	2	2	0	4	2	3	2	0	2	4	4	0	2	2	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr10:104128578C>G	ENST00000369983.3	+	23	3219	c.2959C>G	c.(2959-2961)Ctc>Gtc	p.L987V		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	987					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)		ATTCACAGCTCTCAGCAGTGA	0.502													14	83					0	0	0	0	G	104128578	C	G	104128578	3	3	369	1	0	0	0	0	1	0	0	0	6320	913	32	2	3045	2	GBF1	10	104128578	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08		104128578	31406169	59	71543											
TDRD1	56165	broad.mit.edu	37	chr10	115987042	115987042	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacatcacacctcaaaggcaGagtgctttaaatacaggtat	16	9	7	9	0	2	1	2	0	0	1	2	1	2	1	1	2	3	3	1	2	6	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr10:115987042G>C	ENST00000251864.2	+	23	3540	c.3387G>C	c.(3385-3387)caG>caC	p.Q1129H	TDRD1_ENST00000369281.2_Missense_Mutation_p.Q1015H|TDRD1_ENST00000369282.1_Intron|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369280.1_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1129					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CTCAAAGGCAGAGTGCTTTAA	0.358													10	42					0	0	0	0	C	115987042	G	C	115987042	3	2	369	1	0	0	0	0	1	0	0	0	15824	933	33	2	3473	2	TDRD1	10	115987042	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	11858464	115987042	19547705	60	71544											
MUC2	4583	broad.mit.edu	37	chr11	1078277	1078277	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatccccaggcgtgctcttCagtcccctggagtttgggaa	6	10	12	13	1	2	0	1	0	1	0	4	2	4	2	4	3	1	3	4	3	1	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:1078277C>G	ENST00000441003.2	+	5	591	c.564C>G	c.(562-564)ttC>ttG	p.F188L	MUC2_ENST00000359061.5_Missense_Mutation_p.F188L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	188	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCGTGCTCTTCAGTCCCCTGG	0.662													10	53					0	0	0	0	G	1078277	C	G	1078277	3	3	369	1	0	0	0	0	1	0	0	0	10045	825	29	2	582	2	MUC2	11	1078277	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08		1078277	133928239	61	71545											
HBB	3043	broad.mit.edu	37	chr11	5248168	5248168	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgataccaacctgcccagGgcctcaccaccaacttcatc	10	8	5	18	0	2	1	2	1	0	0	3	1	2	1	6	1	4	0	6	1	3	3	rs67440443		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:5248168G>A	ENST00000335295.3	-	1	259	c.84C>T	c.(82-84)gcC>gcT	p.A28A		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	28			A -> D (in Volga/Drenthe; unstable).|A -> S (in Knossos).|A -> V (in Grange-blanche; O(2) affinity up).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	ACCTGCCCAGGGCCTCACCAC	0.512									Sickle Cell Trait				11	36					0	0	0	0	A	5248168	G	A	5248168	2	1	369	1	0	0	0	0	0	0	0	1	7028	1219	43	4		4	HBB	11	5248168	Silent	SNP	G	TCGA-D6-6826-01A-11D-1912-08	4169891	5248168	129758348	62	71546											
DCHS1	8642	broad.mit.edu	37	chr11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-																															gcacctggcaccccagccccCagcagcagcagcagcagcag																										TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)del	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635													2	4	---	---	---	---					-	6662748	CAG	-	6662746	7	5	369	1	0	1	0	1	0	0	0	0	4319	581	21	0	9877	0	DCHS1	11	6662746	In_Frame_Del	DEL	CAG	TCGA-D6-6826-01A-11D-1912-08	1414578	6662746	128343770	63	71547											
OR1S2	219958	broad.mit.edu	37	chr11	57971290	57971290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagcaaattgtcagtgaCgacaaacacaatagaaaagt	21	6	7	7	1	1	2	1	1	0	1	1	3	1	2	0	0	2	1	0	0	8	2	rs138124206		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:57971290C>T	ENST00000302592.6	-	1	363	c.364G>A	c.(364-366)Gtc>Atc	p.V122I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V122I(2)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTGTCAGTGACGACAAACACA	0.473													34	84					0	0	0	0	T	57971290	C	T	57971290	3	4	369	1	0	0	0	0	1	0	0	0	11044	536	19	1	616	1	OR1S2	11	57971290	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	51308544	57971290	77035226	64	71548											
MS4A7	58475	broad.mit.edu	37	chr11	60161321	60161321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaaaaagagttcttcacGgtcttggatataagtaactc	13	12	9	7	1	4	1	2	0	2	1	5	2	4	2	0	3	1	2	0	3	5	6			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:60161321G>A	ENST00000358246.1	+	6	768	c.575G>A	c.(574-576)cGg>cAg	p.R192Q	MS4A7_ENST00000300184.3_Missense_Mutation_p.R237Q|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.R192Q|MS4A14_ENST00000531787.1_Intron	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	237						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						AGTTCTTCACGGTCTTGGATA	0.373													15	81					0	0	0	0	A	60161321	G	A	60161321	3	1	369	1	0	0	0	0	1	0	0	0	9936	1116	39	1	732	1	MS4A7	11	60161321	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	2190031	60161321	74845195	65	71549											
TM7SF2	7108	broad.mit.edu	37	chr11	64883409	64883409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacctcctctacttcaccGcgctgctggtgcaccgtgag	5	11	9	16	3	3	1	1	1	2	0	4	1	4	1	4	1	4	3	4	1	2	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:64883409G>A	ENST00000279263.7	+	10	1303	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	TM7SF2_ENST00000540748.1_Missense_Mutation_p.A265T|TM7SF2_ENST00000345348.5_Missense_Mutation_p.A354T	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	381					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTACTTCACCGCGCTGCTGGT	0.647													13	43					0	0	0	0	A	64883409	G	A	64883409	3	1	369	1	0	0	0	0	1	0	0	0	16068	1087	38	1	1179	1	TM7SF2	11	64883409	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	4722088	64883409	70123107	66	71550											
KAT5	10524	broad.mit.edu	37	chr11	65481258	65481258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggcagaatggagccgcccGtagggcagtggcagcccagc	8	4	16	13	3	0	1	0	0	0	1	1	2	0	2	3	4	3	4	3	4	2	1			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:65481258G>A	ENST00000341318.4	+	6	863	c.629G>A	c.(628-630)cGt>cAt	p.R210H	KAT5_ENST00000530446.1_Missense_Mutation_p.R158H|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000352980.4_Missense_Mutation_p.R125H|KAT5_ENST00000377046.3_Missense_Mutation_p.R177H	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	177					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GGAGCCGCCCGTAGGGCAGTG	0.532													4	16					0	0	0	0	A	65481258	G	A	65481258	3	1	369	1	0	0	0	0	1	0	0	0	8036	1145	40	1	651	1	KAT5	11	65481258	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	597849	65481258	69525258	67	71551											
PITPNM1	9600	broad.mit.edu	37	chr11	67262422	67262422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgtggccgctccttctcGatcacctgcacgggacaggg	6	8	13	14	3	2	0	1	0	1	0	4	2	3	1	3	3	2	3	3	3	0	1			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:67262422G>A	ENST00000356404.3	-	18	2862	c.2637C>T	c.(2635-2637)atC>atT	p.I879I	PITPNM1_ENST00000436757.2_Silent_p.I878I|PITPNM1_ENST00000534749.1_Silent_p.I879I	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	879	DDHD.				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCTCCTTCTCGATCACCTGCA	0.662													11	82					0	0	0	0	A	67262422	G	A	67262422	2	1	369	1	0	0	0	0	0	0	0	1	12022	1048	37	1		1	PITPNM1	11	67262422	Silent	SNP	G	TCGA-D6-6826-01A-11D-1912-08	1781164	67262422	67744094	68	71552											
DYRK4	8798	broad.mit.edu	37	chr12	4702231	4702231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaaatcctgggctacgCggagctgtggttcctgggtc	7	10	15	9	2	0	1	0	1	0	0	3	2	2	2	2	4	2	3	2	4	3	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:4702231C>T	ENST00000540757.2	+	4	342	c.182C>T	c.(181-183)gCg>gTg	p.A61V	DYRK4_ENST00000543431.1_Missense_Mutation_p.A61V|DYRK4_ENST00000010132.5_Missense_Mutation_p.A61V	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	61			A -> T (in dbSNP:rs12306130).			Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CTGGGCTACGCGGAGCTGTGG	0.458													15	59					0	0	0	0	T	4702231	C	T	4702231	3	4	369	1	0	0	0	0	1	0	0	0	4894	768	27	1	188	1	DYRK4	12	4702231	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08		4702231	129149664	69	71553											
ARID2	196528	broad.mit.edu	37	chr12	46243822	46243823	+	Frame_Shift_Ins	INS	-	-	C																															ttcttcatattttcaggaatINSccctcatggatcacaaacca																										TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:46243822_46243823insC	ENST00000334344.6	+	15	2088_2089	c.1916_1917insC	c.(1915-1917)accfs	p.T639fs	ARID2_ENST00000422737.1_Frame_Shift_Ins_p.T490fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Ins_p.T249fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	639					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTTCAGGAATCCCTCATGGAT	0.337			"N, S, F"		hepatocellular carcinoma								24	62	---	---	---	---					C	46243823	-	C	46243822	7	5	369	1	0	1	1	0	0	0	0	0	917	1435	50	0	1974	0	ARID2	12	46243822	Frame_Shift_Ins	INS	-	TCGA-D6-6826-01A-11D-1912-08	41541591	46243822	87608073	70	71554											
PTGES3	10728	broad.mit.edu	37	chr12	57058264	57058264	+	Nonstop_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggtgatgacaatattcctTactccagatctggcatttct	10	14	7	10	0	2	3	0	2	2	1	4	3	4	3	2	2	1	1	2	2	3	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:57058264T>G	ENST00000262033.6	-	8	782	c.482A>C	c.(481-483)tAa>tCa	p.*161S	PTGES3_ENST00000537473.1_5'UTR|PTGES3_ENST00000414274.3_Nonstop_Mutation_p.*131S|PTGES3_ENST00000456859.2_Nonstop_Mutation_p.*125S|PTGES3_ENST00000436399.2_Nonstop_Mutation_p.*128S|PTGES3_ENST00000448157.2_Nonstop_Mutation_p.*140S	NM_006601.5	NP_006592.3	Q15185	TEBP_HUMAN	prostaglandin E synthase 3 (cytosolic)	0					chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance	cytosol|telomerase holoenzyme complex	prostaglandin-E synthase activity|telomerase activity|unfolded protein binding			large_intestine(1)|lung(1)	2						CAATATTCCTTACTCCAGATC	0.308													15	57					0	0	0	0	G	57058264	T	G	57058264	4	3	369	1	0	0	0	0	0	0	0	0	12828	1761	61	5	4	5	PTGES3	12	57058264	Nonstop_Mutation	SNP	T	TCGA-D6-6826-01A-11D-1912-08	10814442	57058264	76793631	71	71555											
TMTC2	160335	broad.mit.edu	37	chr12	83289957	83289957	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtagacagagaatgcaatGggaaaactgtaacaaatggc	17	6	12	6	1	0	2	0	0	0	2	0	4	0	3	0	2	3	3	0	2	7	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:83289957G>C	ENST00000549919.1	+	4	2802	c.997G>C	c.(997-999)Ggg>Cgg	p.G333R	TMTC2_ENST00000321196.3_Missense_Mutation_p.G339R|TMTC2_ENST00000548305.1_Missense_Mutation_p.G339R			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	339						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGAATGCAATGGGAAAACTGT	0.463													10	73					0	0	0	0	C	83289957	G	C	83289957	3	2	369	1	0	0	0	0	1	0	0	0	16355	1348	47	4	1025	4	TMTC2	12	83289957	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	26231693	83289957	50561938	72	71556											
RIC8B	55188	broad.mit.edu	37	chr12	107279729	107279729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacctgatgggacaataaCgcctttggaggaagcactca	15	7	10	9	1	1	1	1	1	0	0	1	4	1	4	2	3	3	1	2	3	5	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:107279729C>T	ENST00000392837.4	+	10	1770	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	RIC8B_ENST00000549643.1_Missense_Mutation_p.T10M|RIC8B_ENST00000392839.2_Missense_Mutation_p.T500M|RIC8B_ENST00000355478.2_3'UTR			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	500					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GGGACAATAACGCCTTTGGAG	0.413													18	116					0	0	0	0	T	107279729	C	T	107279729	3	4	369	1	0	0	0	0	1	0	0	0	13439	536	19	1	1533	1	RIC8B	12	107279729	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	23989772	107279729	26572166	73	71557											
TRPV4	59341	broad.mit.edu	37	chr12	110238456	110238456	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccccctcatccttgggctGgaagaagcgcccacgggcct	6	6	12	17	2	1	1	1	0	0	1	2	2	2	2	6	3	1	1	6	3	2	1			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:110238456G>A	ENST00000418703.2	-	4	914	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	TRPV4_ENST00000346520.2_Nonsense_Mutation_p.Q274*|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000536838.1_Nonsense_Mutation_p.Q240*|TRPV4_ENST00000261740.2_Nonsense_Mutation_p.Q274*|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000537083.1_Nonsense_Mutation_p.Q274*|TRPV4_ENST00000541794.1_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	274					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCCTTGGGCTGGAAGAAGCGC	0.607													6	45					0	0	0	0	A	110238456	G	A	110238456	4	1	369	1	0	0	0	0	0	1	0	0	16693	1357	47	4	1843	4	TRPV4	12	110238456	Nonsense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	2958727	110238456	23613439	74	71558											
ATP2A2	488	broad.mit.edu	37	chr12	110780124	110780124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcggtggctaaaaccgcctCtgagatggtcctggcggatg	7	9	15	10	3	1	1	0	1	1	1	2	3	2	2	3	5	2	1	3	5	2	1			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:110780124C>G	ENST00000395494.2	+	14	2671	c.2108C>G	c.(2107-2109)tCt>tGt	p.S703C	ATP2A2_ENST00000308664.6_Missense_Mutation_p.S730C|ATP2A2_ENST00000539276.2_Missense_Mutation_p.S730C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	730					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AAAACCGCCTCTGAGATGGTC	0.557													15	75					0	0	0	0	G	110780124	C	G	110780124	3	3	369	1	0	0	0	0	1	0	0	0	1141	913	32	2	2247	2	ATP2A2	12	110780124	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	541668	110780124	23071771	75	71559											
RNF6	6049	broad.mit.edu	37	chr13	26789040	26789040	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactggtctactttccctttGggaattatgataaacagtgc	10	15	8	8	0	1	1	0	1	1	0	2	2	2	2	1	2	4	0	1	2	6	6			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr13:26789040G>A	ENST00000381588.4	-	5	1731	c.979C>T	c.(979-981)Caa>Taa	p.Q327*	RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q327*|RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q327*|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000468480.1_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	327	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTTTCCCTTTGGGAATTATGA	0.418													19	68					0	0	0	0	A	26789040	G	A	26789040	4	1	369	1	0	0	0	0	0	1	0	0	13583	1357	47	4	1082	4	RNF6	13	26789040	Nonsense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08		26789040	88380838	76	71560											
FARP1	10160	broad.mit.edu	37	chr13	99087939	99087939	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatttgattggcattgaCaatcttgtggttccgggaag	11	13	12	5	1	1	3	0	2	1	1	2	4	2	4	1	3	0	2	1	3	3	5			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr13:99087939C>A	ENST00000376586.2	+	19	2589	c.2253C>A	c.(2251-2253)gaC>gaA	p.D751E	FARP1-AS1_ENST00000432229.1_RNA|FARP1_ENST00000595437.1_Missense_Mutation_p.D751E|FARP1_ENST00000319562.6_Missense_Mutation_p.D751E			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	751					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTGGCATTGACAATCTTGTGG	0.507													31	74					1.80694e-10	3.55512e-10	1	0	A	99087939	C	A	99087939	3	1	369	1	0	0	0	0	1	0	0	0	5721	477	17	4	2546	4	FARP1	13	99087939	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	72298899	99087939	16081939	77	71561											
STK24	8428	broad.mit.edu	37	chr13	99171636	99171636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaccactttctgagtcCgattgtcaatgcctttgaac	9	13	8	11	1	2	2	1	2	1	0	3	3	3	2	3	1	3	1	3	1	3	3	rs147189846	by1000genomes	TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr13:99171636C>T	ENST00000397517.2	-	2	210	c.134G>A	c.(133-135)cGg>cAg	p.R45Q	STK24_ENST00000481288.1_5'UTR|STK24_ENST00000376547.3_Missense_Mutation_p.R57Q|STK24_ENST00000539966.1_Missense_Mutation_p.R45Q	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	57	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTCTGAGTCCGATTGTCAAT	0.428													27	121					0	0	0	0	T	99171636	C	T	99171636	3	4	369	1	0	0	0	0	1	0	0	0	15383	652	23	1	1201	1	STK24	13	99171636	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	83697	99171636	15998242	78	71562											
RASA3	22821	broad.mit.edu	37	chr13	114817592	114817592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaggtgacgaaagctcCgaggaatttcacagtaaaag	16	6	12	7	2	1	1	1	1	0	0	2	5	2	3	1	3	1	2	1	3	4	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr13:114817592C>T	ENST00000334062.7	-	3	333	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	RASA3_ENST00000389544.4_Missense_Mutation_p.R39Q|RASA3_ENST00000542651.1_Missense_Mutation_p.R71Q	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	71	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ACGAAAGCTCCGAGGAATTTC	0.488													7	28					0	0	0	0	T	114817592	C	T	114817592	3	4	369	1	0	0	0	0	1	0	0	0	13144	652	23	1	2380	1	RASA3	13	114817592	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	15645956	114817592	352286	79	71563											
ARHGAP5	394	broad.mit.edu	37	chr14	32563530	32563530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataatcctgcaatcacttctGaccaggagttagatgataag	14	11	8	8	0	2	3	1	2	1	1	3	4	3	4	2	1	1	2	2	1	4	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr14:32563530G>A	ENST00000345122.3	+	2	3970	c.3655G>A	c.(3655-3657)Gac>Aac	p.D1219N	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.D1219N|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.D1219N|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.D1219N|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1219					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AATCACTTCTGACCAGGAGTT	0.353													16	94					0	0	0	0	A	32563530	G	A	32563530	3	1	369	1	0	0	0	0	1	0	0	0	888	1290	45	2	3657	2	ARHGAP5	14	32563530	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08		32563530	74786010	80	71564											
GPX2	2877	broad.mit.edu	37	chr14	65406430	65406430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttgtccttcaggtaggCgaagacaggatgctcgttct	8	11	13	9	2	2	1	1	0	1	1	4	4	3	2	1	3	2	4	1	3	2	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr14:65406430C>T	ENST00000389614.5	-	2	435	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	117					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	TTCAGGTAGGCGAAGACAGGA	0.537													14	56					0	0	0	0	T	65406430	C	T	65406430	3	4	369	1	0	0	0	0	1	0	0	0	6790	768	27	1	227	1	GPX2	14	65406430	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	32842900	65406430	41943110	81	71565											
NDUFB1	4707	broad.mit.edu	37	chr14	92588014	92588014	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgcctacagcgaccccGagaccaagggcaacagggaa	13	2	12	14	3	1	1	1	0	0	1	1	4	1	2	4	2	4	1	4	2	4	1			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr14:92588014G>T	ENST00000329559.3	-	1	247	c.108C>A	c.(106-108)ctC>ctA	p.L36L	NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000556555.1_5'UTR|NDUFB1_ENST00000553514.1_5'UTR	NM_004545.3	NP_004536.2	O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)	CAGCGACCCCGAGACCAAGGG	0.711													9	63					3.07112e-06	5.67336e-06	1	0	T	92588014	G	T	92588014	2	4	369	1	0	0	0	0	0	0	0	1	10348	1045	37	3		3	NDUFB1	14	92588014	Silent	SNP	G	TCGA-D6-6826-01A-11D-1912-08	27181584	92588014	14761526	82	71566											
RIN3	79890	broad.mit.edu	37	chr14	93118383	93118383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccatgccccaggtccccCagaccatccgaaccagccgc	9	3	7	22	2	0	1	0	0	0	1	2	2	2	1	10	1	3	0	10	1	1	0			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr14:93118383C>T	ENST00000216487.7	+	6	1148	c.989C>T	c.(988-990)cCa>cTa	p.P330L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	330	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCAGGTCCCCCAGACCATCCG	0.697													16	23					0	0	0	0	T	93118383	C	T	93118383	3	4	369	1	0	0	0	0	1	0	0	0	13458	594	21	4	1011	4	RIN3	14	93118383	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	530369	93118383	14231157	83	71567											
PPP1R14D	54866	broad.mit.edu	37	chr15	41120651	41120651	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccagcgctggagctggccCcggtcatacttcactgtcag	7	8	12	14	2	3	0	3	0	0	0	3	1	3	1	3	3	4	2	3	3	1	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr15:41120651C>G	ENST00000299174.5	-	1	256	c.189G>C	c.(187-189)cgG>cgC	p.R63R	PPP1R14D_ENST00000427255.2_Silent_p.R63R	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	63					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|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;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGAGCTGGCCCCGGTCATACT	0.597													8	68					0	0	0	0	G	41120651	C	G	41120651	2	3	369	1	0	0	0	0	0	0	0	1	12438	610	22	4		4	PPP1R14D	15	41120651	Silent	SNP	C	TCGA-D6-6826-01A-11D-1912-08		41120651	61410741	84	71568											
SPTBN5	51332	broad.mit.edu	37	chr15	42173394	42173394	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcactccagggccctgggttCctcaggctttctcctggagg	4	11	12	14	0	3	0	2	0	1	0	6	1	5	1	4	5	0	2	4	5	0	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr15:42173394C>T	ENST00000320955.6	-	13	2723	c.2496G>A	c.(2494-2496)agG>agA	p.R832R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	832					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCCTGGGTTCCTCAGGCTTT	0.632													6	33					0	0	0	0	T	42173394	C	T	42173394	2	4	369	1	0	0	0	0	0	0	0	1	15212	854	30	2		2	SPTBN5	15	42173394	Silent	SNP	C	TCGA-D6-6826-01A-11D-1912-08	1052743	42173394	60357998	85	71569											
ZSCAN29	146050	broad.mit.edu	37	chr15	43658483	43658483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgcctaccaggccagaGtgagaggctgctgcttccag	7	8	13	13	1	0	2	0	1	0	2	2	3	1	2	4	2	4	4	4	2	1	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr15:43658483G>T	ENST00000396976.2	-	3	1181	c.1047C>A	c.(1045-1047)caC>caA	p.H349Q	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.H348Q|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	349					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCAGGCCAGAGTGAGAGGCTG	0.597													14	39					3.27435e-08	6.23932e-08	1	0	T	43658483	G	T	43658483	3	4	369	1	0	0	0	0	1	0	0	0	18327	1020	36	4	1523	4	ZSCAN29	15	43658483	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	1485089	43658483	58872909	86	71570											
NARG2	79664	broad.mit.edu	37	chr15	60745913	60745914	+	Frame_Shift_Del	DEL	TC	TC	-																															acttcatgaaagatttgattTctctctctcatagtcatttt																										TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr15:60745913_60745914delTC	ENST00000261520.4	-	9	1247_1248	c.1013_1014delGA	c.(1012-1014)afs	p.R338fs	NARG2_ENST00000439632.1_Frame_Shift_Del_p.R201fs|NARG2_ENST00000561114.1_Frame_Shift_Del_p.R338fs	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	338						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGATTTGATTTCTCTCTCTCAT	0.317													12	76	---	---	---	---					-	60745914	TC	-	60745913	7	5	369	1	0	1	0	1	0	0	0	0	10239	1780	62	0	1966	0	NARG2	15	60745913	Frame_Shift_Del	DEL	TC	TCGA-D6-6826-01A-11D-1912-08	17087430	60745913	41785479	87	71571											
IFT140	9742	broad.mit.edu	37	chr16	1642226	1642226	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctcgtgagaccccatcttCagcaaacttccagaactgct	10	9	6	16	1	2	2	1	1	1	2	4	3	3	2	4	0	4	2	4	0	2	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:1642226C>T	ENST00000426508.2	-	6	948	c.585G>A	c.(583-585)ctG>ctA	p.L195L	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	195										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACCCCATCTTCAGCAAACTTC	0.507													11	74					0	0	0	0	T	1642226	C	T	1642226	2	4	369	1	0	0	0	0	0	0	0	1	7609	813	29	2		2	IFT140	16	1642226	Silent	SNP	C	TCGA-D6-6826-01A-11D-1912-08		1642226	88712527	88	71572											
E4F1	1877	broad.mit.edu	37	chr16	2282237	2282237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggagacggtgagatggccGaggccccgggcagcccccgc	6	3	18	14	4	0	2	0	1	0	2	0	5	0	2	5	5	1	1	5	5	0	0			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:2282237G>A	ENST00000301727.4	+	4	529	c.481G>A	c.(481-483)Gag>Aag	p.E161K	E4F1_ENST00000565090.1_Missense_Mutation_p.E161K|E4F1_ENST00000564139.1_Missense_Mutation_p.E161K	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	161					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						TGAGATGGCCGAGGCCCCGGG	0.662													11	75					0	0	0	0	A	2282237	G	A	2282237	3	1	369	1	0	0	0	0	1	0	0	0	4910	1059	37	1	495	1	E4F1	16	2282237	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	640011	2282237	88072516	89	71573											
DNASE1L2	1775	broad.mit.edu	37	chr16	2287938	2287938	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgcattgtggcctgtggCgcccgcctgcgccggagcct	3	7	15	16	5	0	0	0	0	0	0	0	2	0	1	6	3	2	1	6	3	0	1			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:2287938C>T	ENST00000564065.1	+	5	1763	c.762C>T	c.(760-762)ggC>ggT	p.G254G	DNASE1L2_ENST00000320700.5_Silent_p.G254G|DNASE1L2_ENST00000567494.1_Silent_p.G254G|DNASE1L2_ENST00000382437.4_Silent_p.G233G			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	254					DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding			endometrium(1)|prostate(1)|skin(2)	4						TGGCCTGTGGCGCCCGCCTGC	0.672													4	13					0	0	0	0	T	2287938	C	T	2287938	2	4	369	1	0	0	0	0	0	0	0	1	4698	755	27	1		1	DNASE1L2	16	2287938	Silent	SNP	C	TCGA-D6-6826-01A-11D-1912-08	5701	2287938	88066815	90	71574											
C16orf59	80178	broad.mit.edu	37	chr16	2514586	2514586	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcaggggccgccctggctgGccctgtgccgggctgtgcac	2	6	17	16	3	0	0	0	0	0	0	0	0	0	0	4	5	2	4	4	5	0	0			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:2514586G>C	ENST00000483320.1	+	9	1331	c.718G>C	c.(718-720)Gcc>Ccc	p.A240P	C16orf59_ENST00000563531.1_3'UTR|C16orf59_ENST00000361837.4_Missense_Mutation_p.A407P|C16orf59_ENST00000569496.1_3'UTR			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	407										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GCCCTGGCTGGCCCTGTGCCG	0.682													5	24					0	0	0	0	C	2514586	G	C	2514586	3	2	369	1	0	0	0	0	1	0	0	0	1836	1203	42	4	1257	4	C16orf59	16	2514586	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	226648	2514586	87840167	91	71575											
GRIN2A	2903	broad.mit.edu	37	chr16	10274133	10274135	+	In_Frame_Del	DEL	CGT	CGT	-																															tcgaagttcgcgctctgtcaCgtcgtggctgtgacccagca																										TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:10274133_10274135delCGT	ENST00000396573.2	-	3	443_445	c.134_136delACG	c.(133-138)gtg>g	p.DV45del	GRIN2A_ENST00000562109.1_In_Frame_Del_p.DV45del|GRIN2A_ENST00000404927.2_In_Frame_Del_p.DV45del|GRIN2A_ENST00000330684.3_In_Frame_Del_p.DV45del|GRIN2A_ENST00000396575.2_In_Frame_Del_p.DV45del	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	45					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.V46L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCTCTGTCACGTCGTGGCTGTG	0.695													37	87	---	---	---	---					-	10274135	CGT	-	10274133	7	5	369	1	0	1	0	1	0	0	0	0	6829	536	19	0	4306	0	GRIN2A	16	10274133	In_Frame_Del	DEL	CGT	TCGA-D6-6826-01A-11D-1912-08	7759547	10274133	80080620	92	71576											
CACNG3	10368	broad.mit.edu	37	chr16	24372924	24372924	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcccaccctacaggtatCgattccggaggcggtcaagt	8	8	11	14	3	1	0	1	0	0	0	4	2	3	1	4	4	1	1	4	4	3	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:24372924C>A	ENST00000005284.3	+	4	1890	c.688C>A	c.(688-690)Cga>Aga	p.R230R		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	230					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTACAGGTATCGATTCCGGAG	0.537													17	63					9.16793e-09	1.77491e-08	1	0	A	24372924	C	A	24372924	2	1	369	1	0	0	0	0	0	0	0	1	2583	876	31	3		3	CACNG3	16	24372924	Silent	SNP	C	TCGA-D6-6826-01A-11D-1912-08	14098791	24372924	65981829	93	71577											
GPR114	221188	broad.mit.edu	37	chr16	57608852	57608852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggctgcgggagcgggCggatgcaccaagtgtcaggg	7	4	20	10	4	1	0	1	0	0	0	1	2	1	2	1	5	3	3	1	5	1	0	rs149449822		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:57608852C>T	ENST00000340339.4	+	11	1857	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	GPR114_ENST00000349457.3_Missense_Mutation_p.A445V|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	445					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CGGGAGCGGGCGGATGCACCA	0.652													9	33					0	0	0	0	T	57608852	C	T	57608852	3	4	369	1	0	0	0	0	1	0	0	0	6680	768	27	1	1372	1	GPR114	16	57608852	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	33235928	57608852	32745901	94	71578											
TP53	7157	broad.mit.edu	37	chr17	7578412	7578412	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtgggggcagcgcctcAcaacctccgtcatgtgctgt	6	9	13	13	2	2	0	2	0	0	0	3	0	3	0	3	3	3	2	3	3	1	0			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr17:7578412A>C	ENST00000420246.2	-	5	650	c.518T>G	c.(517-519)gTg>gGg	p.V173G	TP53_ENST00000413465.2_Missense_Mutation_p.V173G|TP53_ENST00000359597.4_Missense_Mutation_p.V173G|TP53_ENST00000455263.2_Missense_Mutation_p.V173G|TP53_ENST00000445888.2_Missense_Mutation_p.V173G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.V173G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173A(12)|p.0?(8)|p.V173G(6)|p.V173fs*7(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V173E(1)|p.V41fs*7(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.V173fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V173W(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.V172_E180delVVRRCPHHE(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCCTCACAACCTCCGT	0.662		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			32	35					0	0	0	0	C	7578412	A	C	7578412	3	2	369	1	0	0	0	0	1	0	0	0	16476	159	6	5	780	5	TP53	17	7578412	Missense_Mutation	SNP	A	TCGA-D6-6826-01A-11D-1912-08		7578412	73616798	95	71579											
DNAH2	146754	broad.mit.edu	37	chr17	7699949	7699949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaagatgcattacctcttCaaccttcgagacatctccaa	13	10	4	14	1	3	2	1	0	2	2	5	3	3	2	4	0	3	1	4	0	4	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr17:7699949C>G	ENST00000572933.1	+	50	9302	c.7842C>G	c.(7840-7842)ttC>ttG	p.F2614L	DNAH2_ENST00000389173.2_Missense_Mutation_p.F2614L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2614	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTACCTCTTCAACCTTCGAG	0.572													14	42					0	0	0	0	G	7699949	C	G	7699949	3	3	369	1	0	0	0	0	1	0	0	0	4639	825	29	2	8036	2	DNAH2	17	7699949	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	121537	7699949	73495261	96	71580											
ALOX12B	242	broad.mit.edu	37	chr17	7983127	7983127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgttccctcgcccaggaacGgagccaccatgtcgtctgtg	7	8	11	15	4	1	0	0	0	1	0	4	2	2	2	4	2	2	1	4	2	1	1			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr17:7983127G>A	ENST00000319144.4	-	7	1147	c.887C>T	c.(886-888)cCg>cTg	p.P296L	AC129492.6_ENST00000399413.3_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	296	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCCCAGGAACGGAGCCACCAT	0.687										Multiple Myeloma(8;0.094)			4	17					0	0	0	0	A	7983127	G	A	7983127	3	1	369	1	0	0	0	0	1	0	0	0	537	1116	39	1	1254	1	ALOX12B	17	7983127	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	283178	7983127	73212083	97	71581											
CCDC144A	9720	broad.mit.edu	37	chr17	16612763	16612763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgacagtggcagtacaaaCaactataaaagcctgaaacc	18	6	8	9	0	0	2	0	2	0	0	0	2	0	2	2	1	5	2	2	1	7	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr17:16612763C>A	ENST00000443444.2	+	5	1532	c.1392C>A	c.(1390-1392)aaC>aaA	p.N464K	CCDC144A_ENST00000340621.5_Missense_Mutation_p.N463K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.N464K|CCDC144A_ENST00000360524.8_Missense_Mutation_p.N464K|CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.N464K			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	464																	GCAGTACAAACAACTATAAAA	0.348													5	70					0.000157383	0.000282124	1	0	A	16612763	C	A	16612763	3	1	369	1	0	0	0	0	1	0	0	0	2802	477	17	4	1410	4	CCDC144A	17	16612763	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	8629636	16612763	64582447	98	71582											
ABCA10	10349	broad.mit.edu	37	chr17	67178387	67178387	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcccataagaacaggaaaAcaattcaatttcttggtatt	16	13	5	7	0	2	1	1	0	1	1	3	2	3	2	1	2	2	1	1	2	7	7			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr17:67178387A>G	ENST00000269081.4	-	23	3585	c.2676T>C	c.(2674-2676)tgT>tgC	p.C892C	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	892					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAACAGGAAAACAATTCAATT	0.294													4	21					0	0	0	0	G	67178387	A	G	67178387	2	3	369	1	0	0	0	0	0	0	0	1	29	41	2	5		5	ABCA10	17	67178387	Silent	SNP	A	TCGA-D6-6826-01A-11D-1912-08	50565624	67178387	14016823	99	71583											
DSEL	92126	broad.mit.edu	37	chr18	65180897	65180897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaggtaaaagggtggCataatagaaccaaaagtgca	18	5	12	6	0	0	1	0	0	0	1	0	2	0	1	2	3	3	3	2	3	8	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr18:65180897C>A	ENST00000310045.7	-	2	2452	c.979G>T	c.(979-981)Gcc>Tcc	p.A327S	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	317						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAAGGGTGGCATAATAGAAC	0.383													15	73					0.000219431	0.000390459	1	0	A	65180897	C	A	65180897	3	1	369	1	0	0	0	0	1	0	0	0	4811	710	25	4	2693	4	DSEL	18	65180897	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08		65180897	12896351	100	71584											
OCEL1	79629	broad.mit.edu	37	chr19	17337542	17337542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgcgcgcgggacacgacgCcccccgcaggacccgcccat	6	1	13	21	8	0	0	0	0	0	0	0	3	0	2	6	2	0	1	6	2	0	0			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr19:17337542C>T	ENST00000215061.4	+	2	154	c.110C>T	c.(109-111)gCc>gTc	p.A37V	OCEL1_ENST00000597836.1_5'UTR|OCEL1_ENST00000601529.1_Missense_Mutation_p.A37V|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	37	Pro-rich.									central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						GGACACGACGCCCCCCGCAGG	0.756													13	6					0	0	0	0	T	17337542	C	T	17337542	3	4	369	1	0	0	0	0	1	0	0	0	10887	739	26	4	116	4	OCEL1	19	17337542	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08		17337542	41791441	101	71585											
SERTAD1	29950	broad.mit.edu	37	chr19	40929409	40929409	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgactgccagaggttccttCtcctcctcctcctcccgttt	3	14	6	18	2	1	1	0	0	1	1	8	2	6	1	7	1	1	2	7	1	0	3			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr19:40929409C>T	ENST00000357949.4	-	2	203	c.45G>A	c.(43-45)gaG>gaA	p.E15E		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCT	0.562													9	41					0	0	0	0	T	40929409	C	T	40929409	2	4	369	1	0	0	0	0	0	0	0	1	14207	912	32	2		2	SERTAD1	19	40929409	Silent	SNP	C	TCGA-D6-6826-01A-11D-1912-08	23591867	40929409	18199574	102	71586											
ZNF404	342908	broad.mit.edu	37	chr19	44376738	44376738	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctctcaccatggtgaaatCtttgatgttgactaagttga	10	15	9	7	0	3	4	1	4	2	0	4	4	3	4	1	1	0	2	1	1	2	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr19:44376738C>G	ENST00000587539.1	-	3	1627	c.1628G>C	c.(1627-1629)aGa>aCa	p.R543T	ZNF404_ENST00000324394.6_Missense_Mutation_p.R541T	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				ATGGTGAAATCTTTGATGTTG	0.373													5	16					0	0	0	0	G	44376738	C	G	44376738	3	3	369	1	0	0	0	0	1	0	0	0	17981	913	32	2	34	2	ZNF404	19	44376738	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	3447329	44376738	14752245	103	71587											
SNRPD2	6633	broad.mit.edu	37	chr19	46190835	46190835	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgccggcgatgagcgggttCcgcaggaccacgatgactga	8	7	15	11	5	0	3	0	3	0	0	1	6	1	4	3	3	2	2	3	3	0	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr19:46190835C>G	ENST00000342669.3	-	3	777	c.333G>C	c.(331-333)cgG>cgC	p.R111R	SNRPD2_ENST00000391932.3_Silent_p.R101R|SNRPD2_ENST00000585392.1_Silent_p.R47R|SNRPD2_ENST00000587367.1_Silent_p.R101R|SNRPD2_ENST00000588599.1_Silent_p.R101R|SNRPD2_ENST00000588301.1_Silent_p.R111R|SNRPD2_ENST00000590212.1_3'UTR	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	111					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		TGAGCGGGTTCCGCAGGACCA	0.547													9	43					0	0	0	0	G	46190835	C	G	46190835	2	3	369	1	0	0	0	0	0	0	0	1	14953	842	30	2		2	SNRPD2	19	46190835	Silent	SNP	C	TCGA-D6-6826-01A-11D-1912-08	1814097	46190835	12938148	104	71588											
BHLHE23	128408	broad.mit.edu	37	chr20	61637638	61637638	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgaggatatagttcttGgcgagcagcagcgtggcgat	9	10	15	7	3	1	1	0	1	1	0	1	4	1	2	0	3	4	4	0	3	2	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr20:61637638G>A	ENST00000370346.2	-	1	749	c.441C>T	c.(439-441)gcC>gcT	p.A147A		NM_080606.3	NP_542173.1	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	147	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding			NS(1)	1						TATAGTTCTTGGCGAGCAGCA	0.677													6	28					0	0	0	0	A	61637638	G	A	61637638	2	1	369	1	0	0	0	0	0	0	0	1	1427	1335	47	4		4	BHLHE23	20	61637638	Silent	SNP	G	TCGA-D6-6826-01A-11D-1912-08		61637638	1387882	105	71589											
TOP3B	8940	broad.mit.edu	37	chr22	22314743	22314743	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgaggttggtgggcttgAgccggcgcccgctctccacc	3	8	15	15	4	1	1	0	1	1	0	2	2	1	1	5	4	2	3	5	4	0	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:22314743A>C	ENST00000398793.2	-	14	2038	c.1604T>G	c.(1603-1605)cTc>cGc	p.L535R	TOP3B_ENST00000413067.2_3'UTR|TOP3B_ENST00000357179.5_Missense_Mutation_p.L535R	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	535					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GGTGGGCTTGAGCCGGCGCCC	0.612													6	55					0	0	0	0	C	22314743	A	C	22314743	3	2	369	1	0	0	0	0	1	0	0	0	16463	304	11	5	1004	5	TOP3B	22	22314743	Missense_Mutation	SNP	A	TCGA-D6-6826-01A-11D-1912-08		22314743	28989823	106	71590											
ZNF280A	129025	broad.mit.edu	37	chr22	22869426	22869426	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtttaacccttttggaatCtctgctgtttatatctgaag	9	17	8	7	0	2	1	0	1	2	0	3	3	2	2	1	1	2	3	1	1	5	7			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:22869426C>G	ENST00000302097.3	-	2	781	c.529G>C	c.(529-531)Gat>Cat	p.D177H		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CTTTTGGAATCTCTGCTGTTT	0.453													14	88					0	0	0	0	G	22869426	C	G	22869426	3	3	369	1	0	0	0	0	1	0	0	0	17909	913	32	2	1103	2	ZNF280A	22	22869426	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	554683	22869426	28435140	107	71591											
GAS2L1	10634	broad.mit.edu	37	chr22	29708004	29708004	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcagctgttccggcgcctgGaagaggagttcctggccaat	8	8	14	11	2	0	1	0	0	0	1	2	3	2	3	4	4	2	4	4	4	2	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:29708004G>A	ENST00000471961.1	+	5	2611	c.1563G>A	c.(1561-1563)tgG>tgA	p.W521*	GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000407854.1_Nonsense_Mutation_p.W521*|GAS2L1_ENST00000403764.1_Nonsense_Mutation_p.W521*|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407647.2_Nonsense_Mutation_p.W521*			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	0					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCGGCGCCTGGAAGAGGAGTT	0.692													30	132					0	0	0	0	A	29708004	G	A	29708004	4	1	369	1	0	0	0	0	0	1	0	0	6295	1183	41	2	1585	2	GAS2L1	22	29708004	Nonsense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	6838578	29708004	21596562	108	71592											
DUSP18	150290	broad.mit.edu	37	chr22	31059928	31059928	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaggcttttggttatctgCgagaggccgctgactgaggg	7	11	15	8	2	1	3	0	2	1	1	1	4	1	3	1	4	2	3	1	4	2	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:31059928C>T	ENST00000403268.1	-	2	533	c.63G>A	c.(61-63)tcG>tcA	p.S21S	DUSP18_ENST00000334679.3_Silent_p.S21S|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Silent_p.S21S|DUSP18_ENST00000404885.1_Silent_p.S21S			Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	21						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						TGGTTATCTGCGAGAGGCCGC	0.557													5	63					0	0	0	0	T	31059928	C	T	31059928	2	4	369	1	0	0	0	0	0	0	0	1	4853	755	27	1		1	DUSP18	22	31059928	Silent	SNP	C	TCGA-D6-6826-01A-11D-1912-08	1351924	31059928	20244638	109	71593											
ZFX	7543	broad.mit.edu	37	chrX	24228854	24228854	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactcttctaacttgaaaacGcatgtcaaaactaagcatag	16	10	6	9	1	3	1	1	1	2	0	3	2	3	1	0	0	4	2	0	0	7	5			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:24228854G>A	ENST00000379177.1	+	11	2206	c.1779G>A	c.(1777-1779)acG>acA	p.T593T	ZFX_ENST00000379188.3_Silent_p.T593T|ZFX_ENST00000304543.5_Silent_p.T593T|ZFX_ENST00000338565.3_Silent_p.T543T|ZFX_ENST00000540034.1_Silent_p.T632T|ZFX_ENST00000539115.1_Silent_p.T364T	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ACTTGAAAACGCATGTCAAAA	0.438													7	67					0	0	0	0	A	24228854	G	A	24228854	2	1	369	1	0	0	0	0	0	0	0	1	17756	1074	38	1		1	ZFX	23	24228854	Silent	SNP	G	TCGA-D6-6826-01A-11D-1912-08		24228854	131041706	110	71594											
ZNF630	57232	broad.mit.edu	37	chrX	47919827	47919827	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtacccaattctcacttAcctgggtagatccaccttga	10	12	6	13	0	1	2	1	1	1	1	3	2	2	2	4	1	2	2	4	1	4	5			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:47919827A>T	ENST00000276054.4	-	4	805		c.e4+1		ZNF630_ENST00000409324.3_Splice_Site|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Splice_Site			Q2M218	ZN630_HUMAN	zinc finger protein 630						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						ATTCTCACTTACCTGGGTAGA	0.428													10	81					0	0	0	0	T	47919827	A	T	47919827	5	4	369	1	0	0	0	0	0	0	1	0	18149	405	14	5	1741	5	ZNF630	23	47919827	Splice_Site	SNP	A	TCGA-D6-6826-01A-11D-1912-08	23690973	47919827	107350733	111	71595											
TMEM35	59353	broad.mit.edu	37	chrX	100349902	100349902	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaatgctgaggagcaaccctCcttatatgagaaggcccctc	11	8	10	12	0	0	2	0	2	0	1	2	5	1	3	4	2	3	2	4	2	5	2			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:100349902C>G	ENST00000372930.4	+	2	744	c.461C>G	c.(460-462)tCc>tGc	p.S154C	TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	154						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GAGCAACCCTCCTTATATGAG	0.532													11	71					0	0	0	0	G	100349902	C	G	100349902	3	3	369	1	0	0	0	0	1	0	0	0	16251	855	30	2	467	2	TMEM35	23	100349902	Missense_Mutation	SNP	C	TCGA-D6-6826-01A-11D-1912-08	52430075	100349902	54920658	112	71596											
FMR1NB	158521	broad.mit.edu	37	chrX	147106392	147106392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttatgttacagcgaaccgGccgatgatttacaaaggcag	12	11	10	8	3	0	1	0	1	0	0	0	3	0	1	2	2	4	2	2	2	5	5			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:147106392G>A	ENST00000370467.3	+	5	714	c.640G>A	c.(640-642)Gcc>Acc	p.A214T		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	214						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGAACCGGCCGATGATTT	0.378													11	76					0	0	0	0	A	147106392	G	A	147106392	3	1	369	1	0	0	0	0	1	0	0	0	6006	1203	42	4	658	4	FMR1NB	23	147106392	Missense_Mutation	SNP	G	TCGA-D6-6826-01A-11D-1912-08	46756490	147106392	8164168	113	71597											
MAGEA11	4110	broad.mit.edu	37	chrX	148794917	148794917	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagactttggactccaggTcagtagggaccttggccctt	8	10	13	10	0	1	1	1	0	0	1	2	4	2	3	3	5	0	1	3	5	1	4			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:148794917T>A	ENST00000355220.5	+	2	198		c.e2+2		MAGEA11_ENST00000333104.4_Intron	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11							cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGACTCCAGGTCAGTAGGGAC	0.592													16	37					0	0	0	0	A	148794917	T	A	148794917	5	1	369	1	0	0	0	0	0	0	1	0	9230	1681	58	5	113	5	MAGEA11	23	148794917	Splice_Site	SNP	T	TCGA-D6-6826-01A-11D-1912-08	1688525	148794917	6475643	114	71598											
F13B	2165	broad.mit.edu	37	chr1	197036317	197036317	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagagttctcctgagattaTcaatatgatgataaaagtca	16	13	7	5	0	3	4	2	3	1	2	4	5	3	4	1	0	0	1	1	0	6	5			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr1:197036317T>C	ENST00000367412.1	-	1	80	c.37A>G	c.(37-39)Ata>Gta	p.I13V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	13					blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CCTGAGATTATCAATATGATG	0.299													9	69					0	0	0	0	C	197036317	T	C	197036317	3	2	370	1	0	0	0	0	1	0	0	0	5379	1435	50	5	1996	5	F13B	1	197036317	Missense_Mutation	SNP	T	TCGA-D6-6827-01A-11D-1912-08		197036317	52214304	1	71599											
FN1	2335	broad.mit.edu	37	chr2	216262570	216262570	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcttggtcgtacacccAgctagaggaaggaatgcaaa	12	7	12	10	1	0	1	0	0	0	1	1	3	0	3	2	4	3	4	2	4	5	3			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr2:216262570A>C	ENST00000354785.4	-	22	3719	c.3348_splice	c.e22-1	p.L1117_splice	FN1_ENST00000446046.1_Splice_Site_p.L1117_splice|FN1_ENST00000421182.1_Splice_Site_p.L1117_splice|FN1_ENST00000346544.3_Splice_Site_p.L1117_splice|FN1_ENST00000359671.1_Splice_Site_p.L1117_splice|FN1_ENST00000357867.4_Splice_Site_p.L1117_splice|FN1_ENST00000357009.2_Splice_Site_p.L1117_splice|FN1_ENST00000356005.4_Splice_Site_p.L1117_splice|FN1_ENST00000345488.5_Splice_Site_p.L1117_splice|FN1_ENST00000336916.4_Splice_Site_p.L1117_splice|FN1_ENST00000443816.1_Splice_Site_p.L1117_splice|FN1_ENST00000432072.2_Splice_Site_p.L1117_splice|FN1_ENST00000323926.6_Splice_Site_p.L1117_splice			P02751	FINC_HUMAN	fibronectin 1	1117	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGTACACCCAGCTAGAGGAA	0.468													21	44					0	0	0	0	C	216262570	A	C	216262570	5	2	370	1	0	0	0	0	0	0	1	0	6007	202	7	5	4183	5	FN1	2	216262570	Splice_Site	SNP	A	TCGA-D6-6827-01A-11D-1912-08		216262570	26936803	2	71600											
COL6A3	1293	broad.mit.edu	37	chr2	238275793	238275793	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagagttgtactggacaagCcccacttggatggagtcgcc	9	9	12	11	1	1	1	1	0	0	1	2	4	1	4	3	3	2	2	3	3	2	3			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr2:238275793C>A	ENST00000295550.4	-	11	5489	c.5037G>T	c.(5035-5037)ggG>ggT	p.G1679G	COL6A3_ENST00000347401.3_Silent_p.G1478G|COL6A3_ENST00000346358.4_Silent_p.G1479G|COL6A3_ENST00000353578.4_Silent_p.G1473G|COL6A3_ENST00000472056.1_Silent_p.G1072G|COL6A3_ENST00000409809.1_Silent_p.G1473G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1679	Nonhelical region.|VWFA 9.		G -> E (in BM).		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTGGACAAGCCCCACTTGGA	0.468													14	16					6.81908e-15	1.99117e-14	1	0	A	238275793	C	A	238275793	2	1	370	1	0	0	0	0	0	0	0	1	3731	726	26	4		4	COL6A3	2	238275793	Silent	SNP	C	TCGA-D6-6827-01A-11D-1912-08	22013223	238275793	4923580	3	71601											
BTC	685	broad.mit.edu	37	chr4	75681110	75681110	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccaccacgaagcggcatctCcctttgatgcagtaatgctt	9	10	9	13	2	1	1	0	1	1	0	2	2	1	1	3	1	3	4	3	1	2	3			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr4:75681110C>T	ENST00000395743.3	-	3	600	c.240G>A	c.(238-240)ggG>ggA	p.G80G		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	80	EGF-like.				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			AGCGGCATCTCCCTTTGATGC	0.532													47	85					0	0	0	0	T	75681110	C	T	75681110	2	4	370	1	0	0	0	0	0	0	0	1	1558	842	30	2		2	BTC	4	75681110	Silent	SNP	C	TCGA-D6-6827-01A-11D-1912-08		75681110	115473166	4	71602											
ANKRD32	84250	broad.mit.edu	37	chr5	94022316	94022316	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagagattttcatttgctccTtttcctcctcctggcttcaa	6	18	5	12	0	2	1	2	0	0	1	6	2	6	1	4	1	1	2	4	1	2	7			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr5:94022316T>C	ENST00000265140.5	+	16	2433	c.2014T>C	c.(2014-2016)Ttt>Ctt	p.F672L		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	672										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATTTGCTCCTTTTCCTCCTC	0.383													3	150					0	0	0	0	C	94022316	T	C	94022316	3	2	370	1	0	0	0	0	1	0	0	0	659	1609	56	5	2072	5	ANKRD32	5	94022316	Missense_Mutation	SNP	T	TCGA-D6-6827-01A-11D-1912-08		94022316	86892944	5	71603											
BCLAF1	9774	broad.mit.edu	37	chr6	136599279	136599279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtgaactgtactgagcAtgggagcatcagagcaagat	14	7	13	7	0	1	5	1	2	0	3	1	6	1	6	0	1	5	4	0	1	3	1			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr6:136599279A>G	ENST00000531224.1	-	4	992	c.740T>C	c.(739-741)aTg>aCg	p.M247T	BCLAF1_ENST00000527536.1_Missense_Mutation_p.M247T|BCLAF1_ENST00000392348.2_Missense_Mutation_p.M245T|BCLAF1_ENST00000530767.1_Missense_Mutation_p.M247T|BCLAF1_ENST00000353331.4_Missense_Mutation_p.M245T|BCLAF1_ENST00000527759.1_Missense_Mutation_p.M245T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	247					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGTACTGAGCATGGGAGCATC	0.453													20	102					0	0	0	0	G	136599279	A	G	136599279	3	3	370	1	0	0	0	0	1	0	0	0	1387	217	8	5	2062	5	BCLAF1	6	136599279	Missense_Mutation	SNP	A	TCGA-D6-6827-01A-11D-1912-08		136599279	34515788	6	71604											
MPDZ	8777	broad.mit.edu	37	chr9	13219563	13219563	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttaactacttacccgcaActctggtgttgaagttgggg	8	13	10	10	1	2	1	0	1	2	0	2	1	2	1	1	3	4	3	1	3	5	5			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr9:13219563A>T	ENST00000319217.7	-	8	1328	c.1081T>A	c.(1081-1083)Ttg>Atg	p.L361M	MPDZ_ENST00000536827.1_Missense_Mutation_p.L361M|MPDZ_ENST00000381015.4_Missense_Mutation_p.L361M|MPDZ_ENST00000381022.2_Missense_Mutation_p.L361M|MPDZ_ENST00000546205.1_Missense_Mutation_p.L361M|MPDZ_ENST00000447879.1_Missense_Mutation_p.L361M|MPDZ_ENST00000541718.1_Missense_Mutation_p.L361M	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	361					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTTACCCGCAACTCTGGTGTT	0.418													17	23					0	0	0	0	T	13219563	A	T	13219563	3	4	370	1	0	0	0	0	1	0	0	0	9792	40	2	5	5200	5	MPDZ	9	13219563	Missense_Mutation	SNP	A	TCGA-D6-6827-01A-11D-1912-08		13219563	127993868	7	71605											
NFIB	4781	broad.mit.edu	37	chr9	14125721	14125722	+	Frame_Shift_Del	DEL	AC	AC	-																															ctgtggagatgcagagctgaAcaatggcttttcaggcttct																										TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr9:14125721_14125722delAC	ENST00000380959.3	-	7	1442_1443	c.969_970delGT	c.(967-972)tttcfs	p.LF323fs	NFIB_ENST00000380953.1_Frame_Shift_Del_p.LF323fs|NFIB_ENST00000397579.2_Frame_Shift_Del_p.LF323fs|NFIB_ENST00000380934.4_Frame_Shift_Del_p.LF349fs|NFIB_ENST00000380924.1_Frame_Shift_Del_p.LF71fs|NFIB_ENST00000397581.2_Frame_Shift_Del_p.LF323fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.LF323fs|NFIB_ENST00000543693.1_Frame_Shift_Del_p.LF71fs	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	323					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GCAGAGCTGAACAATGGCTTTT	0.48			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								35	60	---	---	---	---					-	14125722	AC	-	14125721	7	5	370	1	0	1	0	1	0	0	0	0	10441	43	2	0	304	0	NFIB	9	14125721	Frame_Shift_Del	DEL	AC	TCGA-D6-6827-01A-11D-1912-08	906158	14125721	127087710	8	71606											
GDF10	2662	broad.mit.edu	37	chr10	48429292	48429292	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttggcctgccacaggccGcgcggtgggggcgccagggc	3	5	18	15	4	0	0	0	0	0	0	1	0	1	0	5	6	1	0	5	6	0	1			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr10:48429292G>A	ENST00000224605.2	-	2	859	c.594C>T	c.(592-594)cgC>cgT	p.R198R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	198					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GCCACAGGCCGCGCGGTGGGG	0.721													24	24					0	0	0	0	A	48429292	G	A	48429292	2	1	370	1	0	0	0	0	0	0	0	1	6362	1074	38	1		1	GDF10	10	48429292	Silent	SNP	G	TCGA-D6-6827-01A-11D-1912-08		48429292	87105455	9	71607											
ACVR1B	91	broad.mit.edu	37	chr12	52387841	52387841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcccgcctgacggccctgCgcatcaagaagaccctctcc	8	5	9	19	3	2	3	1	1	1	2	3	3	2	3	5	1	2	1	5	1	2	0			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr12:52387841C>T	ENST00000257963.4	+	9	1542	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	ACVR1B_ENST00000541224.1_Missense_Mutation_p.R530C|ACVR1B_ENST00000542485.1_Missense_Mutation_p.R437C	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	489	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GACGGCCCTGCGCATCAAGAA	0.612													20	73					0	0	0	0	T	52387841	C	T	52387841	3	4	370	1	0	0	0	0	1	0	0	0	221	768	27	1	1626	1	ACVR1B	12	52387841	Missense_Mutation	SNP	C	TCGA-D6-6827-01A-11D-1912-08		52387841	81464054	10	71608											
CYLD	1540	broad.mit.edu	37	chr16	50815182	50815182	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgtgcaggctgtacggAtggaaccttcagaggcactc	9	9	14	9	1	1	2	1	1	0	1	2	4	1	4	1	4	3	4	1	4	2	2			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr16:50815182A>T	ENST00000540145.1	+	10	1959	c.1544A>T	c.(1543-1545)gAt>gTt	p.D515V	CYLD_ENST00000569418.1_Missense_Mutation_p.D512V|CYLD_ENST00000427738.3_Missense_Mutation_p.D515V|CYLD_ENST00000311559.9_Missense_Mutation_p.D515V|CYLD_ENST00000564326.1_Missense_Mutation_p.D512V|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Missense_Mutation_p.D512V|CYLD_ENST00000398568.2_Missense_Mutation_p.D512V			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	515	CAP-Gly 3.|Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGCTGTACGGATGGAACCTTC	0.448			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				42	31					0	0	0	0	T	50815182	A	T	50815182	3	4	370	1	0	0	0	0	1	0	0	0	4175	333	12	5	1574	5	CYLD	16	50815182	Missense_Mutation	SNP	A	TCGA-D6-6827-01A-11D-1912-08		50815182	39539571	11	71609											
DNAH9	1770	broad.mit.edu	37	chr17	11774927	11774927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggtaggttggaggactcGcttctgaaaacgtgaggtgg	10	10	16	5	2	1	2	0	2	1	0	2	4	1	4	0	6	1	3	0	6	4	3			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr17:11774927G>A	ENST00000262442.3	+	52	10134	c.10066G>A	c.(10066-10068)Gct>Act	p.A3356T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A3356T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3356					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGAGGACTCGCTTCTGAAAA	0.493													26	46					0	0	0	0	A	11774927	G	A	11774927	3	1	370	1	0	0	0	0	1	0	0	0	4644	1087	38	1	10272	1	DNAH9	17	11774927	Missense_Mutation	SNP	G	TCGA-D6-6827-01A-11D-1912-08		11774927	69420283	12	71610											
ZNF561	93134	broad.mit.edu	37	chr19	9721287	9721287	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtatgtgtatagaaaggccCgagtactgagcaaaggcttg	12	9	13	7	2	0	2	0	1	0	1	0	3	0	2	1	2	2	5	1	2	6	5			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr19:9721287C>A	ENST00000302851.3	-	6	1413	c.1050G>T	c.(1048-1050)tcG>tcT	p.S350S	ZNF561_ENST00000354661.4_Silent_p.S214S|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000424629.1_Silent_p.S281S	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TAGAAAGGCCCGAGTACTGAG	0.418													4	137					0.000602214	0.00169083	1	0	A	9721287	C	A	9721287	2	1	370	1	0	0	0	0	0	0	0	1	18087	639	23	3		3	ZNF561	19	9721287	Silent	SNP	C	TCGA-D6-6827-01A-11D-1912-08		9721287	49407696	13	71611											
CD97	976	broad.mit.edu	37	chr19	14507206	14507206	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaaagctacggcacctgCgtcaacacccttggcagcta	11	8	9	13	2	1	0	1	0	0	0	1	0	1	0	2	2	5	5	2	2	5	4			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr19:14507206C>T	ENST00000242786.5	+	5	479	c.399C>T	c.(397-399)tgC>tgT	p.C133C	CD97_ENST00000357355.3_Silent_p.C133C|CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	133	EGF-like 3; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACGGCACCTGCGTCAACACCC	0.567													9	117					0	0	0	0	T	14507206	C	T	14507206	2	4	370	1	0	0	0	0	0	0	0	1	3078	776	27	1		1	CD97	19	14507206	Silent	SNP	C	TCGA-D6-6827-01A-11D-1912-08	4785919	14507206	44621777	14	71612											
EMR2	30817	broad.mit.edu	37	chr19	14877869	14877869	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagctgccgagggtgttgacGcaggtgccgtagcttttaca	7	11	14	9	3	0	1	0	1	0	0	0	2	0	1	2	2	5	5	2	2	3	5	rs138601089		TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr19:14877869G>A	ENST00000315576.3	-	6	859	c.408C>T	c.(406-408)tgC>tgT	p.C136C	EMR2_ENST00000353005.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000596991.2_Silent_p.C136C|EMR2_ENST00000601345.1_Silent_p.C136C|EMR2_ENST00000346057.1_Silent_p.C136C|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000594294.1_Silent_p.C136C|EMR2_ENST00000392965.3_Silent_p.C136C|EMR2_ENST00000392967.2_Silent_p.C136C|EMR2_ENST00000594076.1_Intron	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	136	EGF-like 3; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGGTGTTGACGCAGGTGCCGT	0.582													6	7					0	0	0	0	A	14877869	G	A	14877869	2	1	370	1	0	0	0	0	0	0	0	1	5143	1079	38	1		1	EMR2	19	14877869	Silent	SNP	G	TCGA-D6-6827-01A-11D-1912-08	370663	14877869	44251114	15	71613											
C22orf42	150297	broad.mit.edu	37	chr22	32554980	32554980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctttacctttggacaTcttcagcatcttcggcgtct	5	16	8	12	2	5	0	1	0	4	0	6	1	5	1	1	3	2	2	1	3	1	6			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr22:32554980T>C	ENST00000382097.3	-	1	295	c.223A>G	c.(223-225)Atg>Gtg	p.M75V		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	75										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CCTTTGGACATCTTCAGCATC	0.547													68	151					0	0	0	0	C	32554980	T	C	32554980	3	2	370	1	0	0	0	0	1	0	0	0	2169	1435	50	5	568	5	C22orf42	22	32554980	Missense_Mutation	SNP	T	TCGA-D6-6827-01A-11D-1912-08		32554980	18749586	16	71614											
SOX10	6663	broad.mit.edu	37	chr22	38370169	38370180	+	In_Frame_Del	DEL	GGGGTGGTTGGA	GGGGTGGTTGGA	-																															ccgactgcagctctgtcttcGgggtggttggaggggtgggt																										TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr22:38370169_38370180delGGGGTGGTTGGA	ENST00000396884.2	-	4	1005_1016	c.723_734delTCCAACCACCCC	c.(721-735)ccg>cc	p.PPTTP241del	POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000360880.2_In_Frame_Del_p.PPTTP241del|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	241						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CTCTGTCTTCGGGGTGGTTGGAGGGGTGGGTG	0.646													46	135	---	---	---	---					-	38370180	GGGGTGGTTGGA	-	38370169	7	5	370	1	0	1	0	1	0	0	0	0	15029	1116	39	0	670	0	SOX10	22	38370169	In_Frame_Del	DEL	GGGGTGGTTGGA	TCGA-D6-6827-01A-11D-1912-08	5815189	38370169	12934397	17	71615											
ERAS	3266	broad.mit.edu	37	chrX	48687628	48687628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgggctcaggcacgccGcagggatgttggcaggcagc	7	4	16	14	3	1	0	1	0	0	0	1	1	1	1	3	5	1	6	3	5	0	1			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chrX:48687628G>A	ENST00000338270.1	+	1	346	c.95G>A	c.(94-96)cGc>cAc	p.R32H		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	32					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						CAGGCACGCCGCAGGGATGTT	0.657													5	17					0	0	0	0	A	48687628	G	A	48687628	3	1	370	1	0	0	0	0	1	0	0	0	5243	1087	38	1	97	1	ERAS	23	48687628	Missense_Mutation	SNP	G	TCGA-D6-6827-01A-11D-1912-08		48687628	106582932	18	71616											
PLXNB3	5365	broad.mit.edu	37	chrX	153040467	153040468	+	Frame_Shift_Ins	INS	-	-	G																															ccgctgcagcccaagcctgaINSggggccaggggaggacggcc																										TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chrX:153040467_153040468insG	ENST00000538966.1	+	25	4404_4405	c.4133_4134insG	c.(4132-4134)gggfs	p.G1378fs	PLXNB3_ENST00000361971.5_Frame_Shift_Ins_p.G1355fs|PLXNB3_ENST00000538776.1_Frame_Shift_Ins_p.G1008fs|PLXNB3_ENST00000538282.1_Stop_Codon_Ins	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1355					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAAGCCTGAGGGGCCAGGGG	0.688													20	15	---	---	---	---					G	153040468	-	G	153040467	7	5	370	1	0	1	1	0	0	0	0	0	12197	304	11	0	4272	0	PLXNB3	23	153040467	Frame_Shift_Ins	INS	-	TCGA-D6-6827-01A-11D-1912-08	104352839	153040467	2230093	19	71617											
PAQR7	164091	broad.mit.edu	37	chr1	26190204	26190204	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatagatgtacggcttccAgaagagcggcggcacctcag	10	6	13	12	4	1	3	1	0	0	3	2	3	2	3	2	3	2	4	2	3	3	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:26190204A>T	ENST00000374296.3	-	2	793	c.127T>A	c.(127-129)Tgg>Agg	p.W43R		NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	43					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		TACGGCTTCCAGAAGAGCGGC	0.617													32	128					0	0	0	0	T	26190204	A	T	26190204	3	4	371	1	0	0	0	0	1	0	0	0	11511	188	7	5	917	5	PAQR7	1	26190204	Missense_Mutation	SNP	A	TCGA-D6-8568-01A-11D-2394-08		26190204	223060417	1	71618											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43637223	43637223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctgaggtgctggcgcctCagatccaccgatctccggta	6	10	12	13	3	3	2	1	1	2	1	5	3	4	2	4	3	1	3	4	3	1	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:43637223C>T	ENST00000431635.2	-	4	563	c.415G>A	c.(415-417)Gag>Aag	p.E139K	EBNA1BP2_ENST00000472982.1_5'UTR|EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.E84K	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	84					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTGGCGCCTCAGATCCACCG	0.498													37	224					0	0	0	0	T	43637223	C	T	43637223	3	4	371	1	0	0	0	0	1	0	0	0	4921	835	29	2	698	2	EBNA1BP2	1	43637223	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	17447019	43637223	205613398	2	71619											
PTCH2	8643	broad.mit.edu	37	chr1	45288991	45288991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatggccccatcggtcacggGggcaaatgtgtgctcaaggg	8	7	16	10	2	2	0	2	0	0	0	3	1	2	0	2	5	1	2	2	5	2	0			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:45288991G>A	ENST00000447098.2	-	20	3192	c.3181C>T	c.(3181-3183)Ccc>Tcc	p.P1061S	PTCH2_ENST00000372192.3_Missense_Mutation_p.P1061S	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	1061					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCGGTCACGGGGGCAAATGTG	0.617									Basal Cell Nevus syndrome				29	85					0	0	0	0	A	45288991	G	A	45288991	3	1	371	1	0	0	0	0	1	0	0	0	12810	1232	43	4	462	4	PTCH2	1	45288991	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	1651768	45288991	203961630	3	71620											
USP24	23358	broad.mit.edu	37	chr1	55614214	55614214	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcaaagctggtaccacccaTacaaactggggattattaag	14	8	9	10	1	0	0	0	0	0	0	0	1	0	1	2	3	4	3	2	3	6	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:55614214T>A	ENST00000294383.6	-	17	1889	c.1890A>T	c.(1888-1890)gtA>gtT	p.V630V	USP24_ENST00000407756.1_Silent_p.V470V	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	630					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTACCACCCATACAAACTGGG	0.318													3	10					0	0	0	0	A	55614214	T	A	55614214	2	1	371	1	0	0	0	0	0	0	0	1	17151	1393	49	5		5	USP24	1	55614214	Silent	SNP	T	TCGA-D6-8568-01A-11D-2394-08	10325223	55614214	193636407	4	71621											
BTBD8	284697	broad.mit.edu	37	chr1	92613293	92613293	+	Frame_Shift_Del	DEL	A	A	-																															ctgagagaagctttgcaaatAtacctcctgagattcagaaa																										TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:92613293delA	ENST00000342818.3	+	9	1308	c.1072delA	c.(1072-1074)tafs	p.I358fs	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	358						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CTTTGCAAATATACCTCCTGA	0.308													8	21	---	---	---	---					-	92613293	A	-	92613293	7	5	371	1	0	1	0	1	0	0	0	0	1556	449	16	0	1106	0	BTBD8	1	92613293	Frame_Shift_Del	DEL	A	TCGA-D6-8568-01A-11D-2394-08	36999079	92613293	156637328	5	71622											
ALX3	257	broad.mit.edu	37	chr1	110607501	110607501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggcagctgggggaagctgGcagctttggaggtcttctcc	6	9	17	9	0	2	0	0	0	2	0	3	2	2	2	1	6	3	5	1	6	1	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:110607501G>A	ENST00000369792.4	-	2	389	c.302C>T	c.(301-303)gCc>gTc	p.A101V		NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGGAAGCTGGCAGCTTTGGA	0.617													7	50					0	0	0	0	A	110607501	G	A	110607501	3	1	371	1	0	0	0	0	1	0	0	0	557	1203	42	4	741	4	ALX3	1	110607501	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	17994208	110607501	138643120	6	71623											
TCHHL1	126637	broad.mit.edu	37	chr1	152059535	152059535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgccattggcttatttGtcttaagttggccttcattg	6	18	8	9	0	2	0	1	0	1	0	3	0	3	0	3	2	1	2	3	2	2	7			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:152059535G>A	ENST00000368806.1	-	3	687	c.623C>T	c.(622-624)aCa>aTa	p.T208I		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	208							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGGCTTATTTGTCTTAAGTTG	0.448													11	69					0	0	0	0	A	152059535	G	A	152059535	3	1	371	1	0	0	0	0	1	0	0	0	15795	1377	48	4	2095	4	TCHHL1	1	152059535	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	41452034	152059535	97191086	7	71624											
UCK2	7371	broad.mit.edu	37	chr1	165859553	165859554	+	Frame_Shift_Ins	INS	-	-	G																															taccgtgtccttacctcggaINSgcagaaggccaaagccctga																										TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:165859553_165859554insG	ENST00000367879.4	+	2	515_516	c.212_213insG	c.(211-213)gcafs	p.A71fs	UCK2_ENST00000372212.4_Frame_Shift_Ins_p.A71fs	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	71					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CTTACCTCGGAGCAGAAGGCCA	0.554													21	83	---	---	---	---					G	165859554	-	G	165859553	7	5	371	1	0	1	1	0	0	0	0	0	17020	304	11	0	218	0	UCK2	1	165859553	Frame_Shift_Ins	INS	-	TCGA-D6-8568-01A-11D-2394-08	13800018	165859553	83391068	8	71625											
TROVE2	6738	broad.mit.edu	37	chr1	193045125	193045125	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctaatagaagaacatagAttagttagagaacatctttt	17	13	6	5	0	2	4	0	0	2	4	2	5	2	4	0	0	2	1	0	0	8	7			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:193045125A>G	ENST00000367446.3	+	3	966	c.756A>G	c.(754-756)agA>agG	p.R252R	TROVE2_ENST00000367443.1_Silent_p.R252R|TROVE2_ENST00000367444.3_Silent_p.R252R|TROVE2_ENST00000400968.2_Silent_p.R252R|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367441.1_Silent_p.R252R|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000432079.1_5'UTR|TROVE2_ENST00000367445.3_Silent_p.R252R	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	252	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						AAGAACATAGATTAGTTAGAG	0.333													10	37					0	0	0	0	G	193045125	A	G	193045125	2	3	371	1	0	0	0	0	0	0	0	1	16671	330	12	5		5	TROVE2	1	193045125	Silent	SNP	A	TCGA-D6-8568-01A-11D-2394-08	27185572	193045125	56205496	9	71626											
LYPLAL1	127018	broad.mit.edu	37	chr1	219366442	219366442	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatcatatactcctatgaaAggaggaatctccaatgtatg	15	11	8	7	0	2	2	1	1	1	1	4	4	3	4	2	2	1	1	2	2	7	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:219366442A>G	ENST00000366928.5	+	3	257	c.210A>G	c.(208-210)aaA>aaG	p.K70K	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Intron	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	70						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		CTCCTATGAAAGGAGGAATCT	0.358													7	25					0	0	0	0	G	219366442	A	G	219366442	2	3	371	1	0	0	0	0	0	0	0	1	9183	69	3	5		5	LYPLAL1	1	219366442	Silent	SNP	A	TCGA-D6-8568-01A-11D-2394-08	26321317	219366442	29884179	10	71627											
ZNF678	339500	broad.mit.edu	37	chr1	227842412	227842412	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactggagagaaaccctacaAatgtgacgaatgtggcaaag	16	7	11	7	1	0	2	0	1	0	1	0	5	0	3	1	2	3	1	1	2	6	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:227842412A>C	ENST00000343776.4	+	4	806	c.461A>C	c.(460-462)aAa>aCa	p.K154T	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.K209T			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	209					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				AAACCCTACAAATGTGACGAA	0.358													22	59					0	0	0	0	C	227842412	A	C	227842412	3	2	371	1	0	0	0	0	1	0	0	0	18180	14	1	5	640	5	ZNF678	1	227842412	Missense_Mutation	SNP	A	TCGA-D6-8568-01A-11D-2394-08	8475970	227842412	21408209	11	71628											
ROCK2	9475	broad.mit.edu	37	chr2	11332404	11332404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttttaggtatctttttcaCcaaccgactaacccacttct	9	16	3	13	1	3	0	1	0	2	0	3	1	3	0	3	1	2	1	3	1	4	8			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:11332404C>T	ENST00000315872.6	-	32	4481	c.4033G>A	c.(4033-4035)Gtg>Atg	p.V1345M	ROCK2_ENST00000401753.1_Missense_Mutation_p.V1102M	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1345	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATCTTTTTCACCAACCGACTA	0.393													8	180					0	0	0	0	T	11332404	C	T	11332404	3	4	371	1	0	0	0	0	1	0	0	0	13603	507	18	4	141	4	ROCK2	2	11332404	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08		11332404	231866969	12	71629											
PSME4	23198	broad.mit.edu	37	chr2	54176347	54176347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccagttttggaattgataCcagctcatacaataacttaa	14	14	5	8	0	1	1	1	1	0	0	2	2	2	2	2	1	4	2	2	1	6	8			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:54176347C>A	ENST00000404125.1	-	2	371	c.316G>T	c.(316-318)Gta>Tta	p.V106L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	106					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGAATTGATACCAGCTCATAC	0.338													14	55					0.000151284	0.000158252	1	0	A	54176347	C	A	54176347	3	1	371	1	0	0	0	0	1	0	0	0	12788	507	18	4	5395	4	PSME4	2	54176347	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	42843943	54176347	189023026	13	71630											
LRRTM4	80059	broad.mit.edu	37	chr2	77745758	77745758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctcatactcttgctctgCgccaggaatctgaaaccctg	9	11	8	13	1	4	1	1	1	3	0	4	2	4	2	2	1	5	2	2	1	3	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:77745758C>T	ENST00000409088.3	-	3	1651	c.1237G>A	c.(1237-1239)Gca>Aca	p.A413T	LRRTM4_ENST00000409282.1_Missense_Mutation_p.A414T|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A414T|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A413T|LRRTM4_ENST00000409093.1_Missense_Mutation_p.A413T	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	413						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCTTGCTCTGCGCCAGGAATC	0.478													15	56					0	0	0	0	T	77745758	C	T	77745758	3	4	371	1	0	0	0	0	1	0	0	0	9106	768	27	1	549	1	LRRTM4	2	77745758	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	23569411	77745758	165453615	14	71631											
LRRTM1	347730	broad.mit.edu	37	chr2	80530401	80530401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgaggctgcggcagtcctGgaagatgcgcacgggcacaa	9	6	15	11	3	0	2	0	1	0	1	1	3	1	3	1	4	2	4	1	4	2	1			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:80530401G>T	ENST00000295057.3	-	2	1200	c.544C>A	c.(544-546)Cag>Aag	p.Q182K	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.Q182K	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	182						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGGCAGTCCTGGAAGATGCGC	0.612										HNSCC(69;0.2)			27	108					2.79863e-10	3.22451e-10	1	0	T	80530401	G	T	80530401	3	4	371	1	0	0	0	0	1	0	0	0	9103	1357	47	4	1028	4	LRRTM1	2	80530401	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	2784643	80530401	162668972	15	71632											
TCF7L1	83439	broad.mit.edu	37	chr2	85536400	85536401	+	Frame_Shift_Ins	INS	-	-	CAGC																															cttcctgtcggctaaggctgINScagcctcctcctctgggcag																										TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:85536400_85536401insCAGC	ENST00000282111.3	+	12	1857_1858	c.1582_1583insCAGC	c.(1582-1584)agcfs	p.S528fs		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	528					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						GGCTAAGGCTGCAGCCTCCTCC	0.688													14	98	---	---	---	---					CAGC	85536401	-	CAGC	85536400	7	5	371	1	0	1	1	0	0	0	0	0	15791	1319	46	0	1628	0	TCF7L1	2	85536400	Frame_Shift_Ins	INS	-	TCGA-D6-8568-01A-11D-2394-08	5005999	85536400	157662973	16	71633											
PPIG	9360	broad.mit.edu	37	chr2	170493868	170493868	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaagcagtcaggacaatgaAttaaagtcctccatgttgaa	16	9	8	8	0	1	2	1	2	0	0	3	3	3	3	2	1	1	2	2	1	6	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:170493868A>C	ENST00000260970.3	+	14	2320	c.2100A>C	c.(2098-2100)gaA>gaC	p.E700D	PPIG_ENST00000448752.2_Missense_Mutation_p.E700D|PPIG_ENST00000409714.3_Missense_Mutation_p.E685D	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	700					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AGGACAATGAATTAAAGTCCT	0.353													8	30					0	0	0	0	C	170493868	A	C	170493868	3	2	371	1	0	0	0	0	1	0	0	0	12400	98	4	5	2146	5	PPIG	2	170493868	Missense_Mutation	SNP	A	TCGA-D6-8568-01A-11D-2394-08	84957468	170493868	72705505	17	71634											
TTN	7273	broad.mit.edu	37	chr2	179542634	179542634	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaactggaactggttcacgTttctttggcactttaaagat	10	14	10	7	1	2	1	1	0	1	1	2	3	2	3	0	4	2	3	0	4	4	5			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:179542634T>A	ENST00000589042.1	-	146	34229	c.34005A>T	c.(34003-34005)aaA>aaT	p.K11335N	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K10091N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K11018N|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11018	Glu-rich.|Pro-rich.						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)			CTGGTTCACGTTTCTTTGGCA	0.363													21	50					0	0	0	0	A	179542634	T	A	179542634	3	1	371	1	0	0	0	0	1	0	0	0	16831	1722	60	5	70392	5	TTN	2	179542634	Missense_Mutation	SNP	T	TCGA-D6-8568-01A-11D-2394-08	9048766	179542634	63656739	18	71635											
XIRP1	165904	broad.mit.edu	37	chr3	39230516	39230516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcctggttggctcctGgtctgtgctgttggcaaagg	3	12	17	9	0	1	0	0	0	1	0	2	0	2	0	2	7	1	5	2	7	1	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:39230516G>T	ENST00000340369.3	-	2	649	c.421C>A	c.(421-423)Cag>Aag	p.Q141K	XIRP1_ENST00000396251.1_Missense_Mutation_p.Q141K|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	141							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTTGGCTCCTGGTCTGTGCTG	0.617													15	80					6.31663e-08	7.02338e-08	1	0	T	39230516	G	T	39230516	3	4	371	1	0	0	0	0	1	0	0	0	17525	1357	47	4	5114	4	XIRP1	3	39230516	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08		39230516	158791914	19	71636											
DAG1	1605	broad.mit.edu	37	chr3	49569008	49569018	+	Frame_Shift_Del	DEL	CTCCTCCAGTC	CTCCTCCAGTC	-																															tcctccaacagagaccatggCtcctccagtcagggatcctg																										TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:49569008_49569018delCTCCTCCAGTC	ENST00000545947.1	+	6	1786_1796	c.1064_1074delCTCCTCCAGTC	c.(1063-1074)gfs	p.APPV355fs	DAG1_ENST00000541308.1_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000308775.2_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000538711.1_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000539901.1_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000515359.2_Frame_Shift_Del_p.APPV355fs	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	355	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGACCATGGCTCCTCCAGTCAGGGATCCTG	0.611													44	155	---	---	---	---					-	49569018	CTCCTCCAGTC	-	49569008	7	5	371	1	0	1	0	1	0	0	0	0	4258	797	28	0	1070	0	DAG1	3	49569008	Frame_Shift_Del	DEL	CTCCTCCAGTC	TCGA-D6-8568-01A-11D-2394-08	10338492	49569008	148453422	20	71637											
PBRM1	55193	broad.mit.edu	37	chr3	52712550	52712550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaatgaagagctcacagaGaagtctgccctgttcatcct	11	10	8	12	0	3	3	2	1	1	2	4	4	4	3	3	0	2	2	3	0	3	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:52712550G>A	ENST00000356770.4	-	2	204	c.202C>T	c.(202-204)Ctc>Ttc	p.L68F	PBRM1_ENST00000394830.3_Missense_Mutation_p.L68F|PBRM1_ENST00000296302.7_Missense_Mutation_p.L68F|PBRM1_ENST00000410007.1_Missense_Mutation_p.L68F|PBRM1_ENST00000409767.1_Missense_Mutation_p.L68F|PBRM1_ENST00000409114.3_Missense_Mutation_p.L68F|PBRM1_ENST00000337303.4_Missense_Mutation_p.L68F|PBRM1_ENST00000409057.1_Missense_Mutation_p.L68F			Q86U86	PB1_HUMAN	polybromo 1	68	Bromo 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGCTCACAGAGAAGTCTGCCC	0.433			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								17	58					0	0	0	0	A	52712550	G	A	52712550	3	1	371	1	0	0	0	0	1	0	0	0	11562	942	33	2	4814	2	PBRM1	3	52712550	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	3143542	52712550	145309880	21	71638											
PROS1	5627	broad.mit.edu	37	chr3	93624662	93624662	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatttgaaagcataacaaaAccatttttacaggaacagtg	17	12	6	6	0	0	1	0	1	0	0	0	2	0	2	1	1	5	1	1	1	7	6			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:93624662A>T	ENST00000394236.3	-	6	883	c.567T>A	c.(565-567)ggT>ggA	p.G189G	PROS1_ENST00000407433.1_Silent_p.G58G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	189	EGF-like 2; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GCATAACAAAACCATTTTTAC	0.318													8	53					0	0	0	0	T	93624662	A	T	93624662	2	4	371	1	0	0	0	0	0	0	0	1	12638	30	2	5		5	PROS1	3	93624662	Silent	SNP	A	TCGA-D6-8568-01A-11D-2394-08	40912112	93624662	104397768	22	71639											
CRYBG3	131544	broad.mit.edu	37	chr3	97660083	97660083	+	Frame_Shift_Del	DEL	G	G	-																															caccagggcaacatctgtgtGcatttctccctatagtggaa																										TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:97660083delG	ENST00000182096.4	+	17	2817	c.2753delG	c.(2752-2754)tcfs	p.C918fs	CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Frame_Shift_Del_p.C125fs	NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ACATCTGTGTGCATTTCTCCC	0.458													27	105	---	---	---	---					-	97660083	G	-	97660083	7	5	371	1	0	1	0	1	0	0	0	0	3943	1319	46	0	2819	0	CRYBG3	3	97660083	Frame_Shift_Del	DEL	G	TCGA-D6-8568-01A-11D-2394-08	4035421	97660083	100362347	23	71640											
OR5H1	26341	broad.mit.edu	37	chr3	97852173	97852173	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaattcaggtattcagcaTtgtgactattcttgtatctt	9	19	6	7	0	5	1	3	1	2	0	5	1	5	1	0	1	1	3	0	1	4	10			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:97852173T>C	ENST00000354565.2	+	1	632	c.632T>C	c.(631-633)aTt>aCt	p.I211T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTATTCAGCATTGTGACTATT	0.333													12	41					0	0	0	0	C	97852173	T	C	97852173	3	2	371	1	0	0	0	0	1	0	0	0	11230	1493	52	5	634	5	OR5H1	3	97852173	Missense_Mutation	SNP	T	TCGA-D6-8568-01A-11D-2394-08	192090	97852173	100170257	24	71641											
COL6A6	131873	broad.mit.edu	37	chr3	130368004	130368004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaatttgagcggatgaaGgagatgatggctttcctggt	10	11	15	5	1	0	4	0	3	0	1	1	7	1	6	1	5	1	1	1	5	2	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:130368004G>A	ENST00000358511.6	+	32	5362	c.5331G>A	c.(5329-5331)aaG>aaA	p.K1777K	COL6A6_ENST00000453409.2_Silent_p.K1777K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1777	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGCGGATGAAGGAGATGATGG	0.567													3	11					0	0	0	0	A	130368004	G	A	130368004	2	1	371	1	0	0	0	0	0	0	0	1	3733	991	35	4		4	COL6A6	3	130368004	Silent	SNP	G	TCGA-D6-8568-01A-11D-2394-08	32515831	130368004	67654426	25	71642											
GPR149	344758	broad.mit.edu	37	chr3	154146466	154146466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttgtaagcgctaggatCaaagcgaagcgcttctgcgc	10	10	11	10	4	2	0	1	0	1	0	2	2	2	1	0	1	4	3	0	1	4	5			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:154146466C>A	ENST00000389740.2	-	1	1038	c.939G>T	c.(937-939)ttG>ttT	p.L313F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	313						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCGCTAGGATCAAAGCGAAGC	0.572													41	227					3.43241e-23	4.29728e-23	1	0	A	154146466	C	A	154146466	3	1	371	1	0	0	0	0	1	0	0	0	6703	825	29	2	1272	2	GPR149	3	154146466	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	23778462	154146466	43875964	26	71643											
SMARCAD1	56916	broad.mit.edu	37	chr4	95206114	95206114	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtatttttttttagagaAgtactagttataaaactaat	14	20	5	2	0	0	1	0	0	0	1	0	2	0	1	0	0	2	3	0	0	9	12			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr4:95206114A>T	ENST00000354268.4	+	23	2986	c.2913A>T	c.(2911-2913)gaA>gaT	p.E971D	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.E541D|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E973D			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	971	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTTTAGAGAAGTACTAGTTA	0.264													6	37					0	0	0	0	T	95206114	A	T	95206114	3	4	371	1	0	0	0	0	1	0	0	0	14860	69	3	5	3005	5	SMARCAD1	4	95206114	Missense_Mutation	SNP	A	TCGA-D6-8568-01A-11D-2394-08		95206114	95948162	27	71644											
UCP1	7350	broad.mit.edu	37	chr4	141484647	141484647	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagtcgttagaccagctaaAatcttgcttcctaaactagg	12	11	7	11	1	1	1	0	0	1	1	3	1	2	1	3	1	3	3	3	1	6	6			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr4:141484647A>C	ENST00000262999.3	-	3	426	c.351T>G	c.(349-351)atT>atG	p.I117M		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	117					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					GACCAGCTAAAATCTTGCTTC	0.398													14	69					0	0	0	0	C	141484647	A	C	141484647	3	2	371	1	0	0	0	0	1	0	0	0	17026	10	1	5	586	5	UCP1	4	141484647	Missense_Mutation	SNP	A	TCGA-D6-8568-01A-11D-2394-08	46278533	141484647	49669629	28	71645											
ARHGAP10	79658	broad.mit.edu	37	chr4	148886186	148886186	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttggaagaaagcggcagcCcagaatctcgtgttaatgcg	11	10	12	8	3	1	2	0	0	1	2	2	3	1	3	1	2	3	2	1	2	4	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr4:148886186C>G	ENST00000336498.3	+	17	1701	c.1462C>G	c.(1462-1464)Cca>Gca	p.P488A	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.P137A	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	488	Rho-GAP.		P -> S (in dbSNP:rs17024215).		apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AAGCGGCAGCCCAGAATCTCG	0.308													14	39					0	0	0	0	G	148886186	C	G	148886186	3	3	371	1	0	0	0	0	1	0	0	0	864	623	22	4	1528	4	ARHGAP10	4	148886186	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	7401539	148886186	42268090	29	71646											
NIPBL	25836	broad.mit.edu	37	chr5	36976181	36976181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcagaaaatgatattcCttttaatgtgcagtacccag	12	15	7	7	0	1	2	1	1	0	1	2	2	2	2	2	0	2	3	2	0	5	6			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:36976181C>T	ENST00000282516.8	+	9	1671	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	NIPBL_ENST00000448238.2_Missense_Mutation_p.P391L|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	391					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AATGATATTCCTTTTAATGTG	0.398													22	156					0	0	0	0	T	36976181	C	T	36976181	3	4	371	1	0	0	0	0	1	0	0	0	10498	681	24	4	1202	4	NIPBL	5	36976181	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08		36976181	143939079	30	71647											
NUP155	9631	broad.mit.edu	37	chr5	37348606	37348606	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taataataaattacatgttaCctagcaatgttaccagcagc	16	12	5	8	0	0	0	0	0	0	0	0	0	0	0	2	0	6	4	2	0	9	7			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:37348606C>G	ENST00000231498.3	-	9	1199		c.e9+1		NUP155_ENST00000513532.1_Splice_Site|NUP155_ENST00000381843.2_Splice_Site	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa						carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTACATGTTACCTAGCAATGT	0.363													11	121					0	0	0	0	G	37348606	C	G	37348606	5	3	371	1	0	0	0	0	0	0	1	0	10827	521	18	4	3287	4	NUP155	5	37348606	Splice_Site	SNP	C	TCGA-D6-8568-01A-11D-2394-08	372425	37348606	143566654	31	71648											
PCDHB8	56128	broad.mit.edu	37	chr5	140558696	140558696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccaatacctgagaatGcgcctgaaactgtggttgca	11	8	10	12	1	0	2	0	2	0	1	0	3	0	2	4	1	5	2	4	1	4	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:140558696G>T	ENST00000239444.2	+	1	1326	c.1081G>T	c.(1081-1083)Gcg>Tcg	p.A361S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		361	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGAGAATGCGCCTGAAAC	0.448													49	679					1.51926e-22	1.8872e-22	1	0	T	140558696	G	T	140558696	3	4	371	1	0	0	0	0	1	0	0	0	11619	1319	46	4	1083	4	PCDHB8	5	140558696	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	103210090	140558696	40356564	32	71649											
PCDHGC4	56098	broad.mit.edu	37	chr5	140865902	140865902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacggagatgtgagcctcCgcattcctgaccacttgcca	10	8	9	14	2	0	3	0	2	0	1	2	4	2	3	5	1	3	1	5	1	1	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:140865902C>T	ENST00000306593.1	+	1	1162	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGAGCCTCCGCATTCCTGA	0.557													22	82					0	0	0	0	T	140865902	C	T	140865902	3	4	371	1	0	0	0	0	1	0	0	0	11641	652	23	1	1164	1	PCDHGC4	5	140865902	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	307206	140865902	40049358	33	71650											
DSP	1832	broad.mit.edu	37	chr6	7569505	7569505	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggcccgggaggcgttgaCatgcttgttccctctgtggg	4	10	16	11	3	1	1	0	1	1	0	2	2	2	2	2	4	1	3	2	4	0	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr6:7569505C>G	ENST00000379802.3	+	12	1847	c.1506C>G	c.(1504-1506)gaC>gaG	p.D502E	DSP_ENST00000418664.2_Missense_Mutation_p.D502E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	502	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGGCGTTGACATGCTTGTTC	0.557													28	115					0	0	0	0	G	7569505	C	G	7569505	3	3	371	1	0	0	0	0	1	0	0	0	4817	477	17	4	1552	4	DSP	6	7569505	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08		7569505	163545562	34	71651											
GCNT2	2651	broad.mit.edu	37	chr6	10529410	10529410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatgtaacagaaacactctCtgaagaagaggctgggttcc	13	9	10	9	0	1	4	0	1	1	3	3	4	2	4	1	2	2	3	1	2	5	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr6:10529410C>G	ENST00000379597.3	+	1	822	c.266C>G	c.(265-267)tCt>tGt	p.S89C	GCNT2_ENST00000495262.1_Missense_Mutation_p.S89C|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	89						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GAAACACTCTCTGAAGAAGAG	0.428													26	119					0	0	0	0	G	10529410	C	G	10529410	3	3	371	1	0	0	0	0	1	0	0	0	6350	913	32	2	268	2	GCNT2	6	10529410	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	2959905	10529410	160585657	35	71652											
HIVEP2	3097	broad.mit.edu	37	chr6	143090948	143090948	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaactcacagtagttgttGtccgcagactggggaactga	11	9	11	10	1	1	2	1	1	0	1	2	3	2	3	2	2	2	4	2	2	3	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr6:143090948G>C	ENST00000367603.2	-	5	5670	c.4928C>G	c.(4927-4929)aCa>aGa	p.T1643R	HIVEP2_ENST00000367604.1_Missense_Mutation_p.T1643R|HIVEP2_ENST00000012134.2_Missense_Mutation_p.T1643R	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGTAGTTGTTGTCCGCAGACT	0.493													27	89					0	0	0	0	C	143090948	G	C	143090948	3	2	371	1	0	0	0	0	1	0	0	0	7237	1377	48	4	2436	4	HIVEP2	6	143090948	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	132561538	143090948	28024119	36	71653											
TIAM2	26230	broad.mit.edu	37	chr6	155569309	155569309	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgaggagcactaccacctGacgggtgaggcggcggcggc	8	3	18	12	5	0	2	0	2	0	0	0	4	0	3	2	6	3	1	2	6	1	1			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr6:155569309G>C	ENST00000461783.3	+	22	5101	c.3828G>C	c.(3826-3828)ctG>ctC	p.L1276L	TIAM2_ENST00000528391.2_Silent_p.L612L|TIAM2_ENST00000360366.4_Silent_p.L1300L|TIAM2_ENST00000456877.2_Silent_p.L588L|TIAM2_ENST00000456144.1_Silent_p.L1276L|TIAM2_ENST00000529824.2_Silent_p.L1276L|TIAM2_ENST00000318981.5_Silent_p.L1276L|TIAM2_ENST00000275246.7_Silent_p.L201L|TIAM2_ENST00000367174.2_Silent_p.L652L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1276	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ACTACCACCTGACGGGTGAGG	0.692											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	41					0	0	0	0	C	155569309	G	C	155569309	2	2	371	1	0	0	0	0	0	0	0	1	15985	1277	45	2		2	TIAM2	6	155569309	Silent	SNP	G	TCGA-D6-8568-01A-11D-2394-08	12478361	155569309	15545758	37	71654											
NUDT1	4521	broad.mit.edu	37	chr7	2290500	2290500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttccagctggatcagatccCcttcaaggacatgtggcccg	8	9	11	13	1	2	1	2	0	0	1	4	3	4	3	4	3	1	2	4	3	1	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:2290500C>T	ENST00000397049.1	+	5	506	c.404C>T	c.(403-405)cCc>cTc	p.P135L	NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000343985.4_Missense_Mutation_p.P135L|NUDT1_ENST00000397048.1_Missense_Mutation_p.P135L|NUDT1_ENST00000397046.1_Missense_Mutation_p.P112L|NUDT1_ENST00000339737.2_Missense_Mutation_p.P112L|NUDT1_ENST00000356714.1_Missense_Mutation_p.P112L	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	153	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GATCAGATCCCCTTCAAGGAC	0.512								Modulation of nucleotide pools					65	298					0	0	0	0	T	2290500	C	T	2290500	3	4	371	1	0	0	0	0	1	0	0	0	10796	623	22	4	418	4	NUDT1	7	2290500	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08		2290500	156848163	38	71655											
ABCA13	154664	broad.mit.edu	37	chr7	48356756	48356756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttctaattgcaacagcaCcgttttgcttgaagctttat	9	17	6	9	1	2	1	0	1	2	0	2	1	2	1	1	0	5	5	1	0	4	8			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:48356756C>T	ENST00000435803.1	+	27	9886	c.9862C>T	c.(9862-9864)Ccg>Tcg	p.P3288S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3288					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						TGCAACAGCACCGTTTTGCTT	0.363													3	17					0	0	0	0	T	48356756	C	T	48356756	3	4	371	1	0	0	0	0	1	0	0	0	31	507	18	4	9797	4	ABCA13	7	48356756	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	46066256	48356756	110781907	39	71656											
ZNF804B	219578	broad.mit.edu	37	chr7	88963423	88963423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaacatttacaaccataGtgatgccaggatatctgaat	16	10	6	9	0	1	2	0	2	1	0	1	3	1	3	3	1	4	0	3	1	6	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:88963423G>A	ENST00000333190.4	+	4	1736	c.1127G>A	c.(1126-1128)aGt>aAt	p.S376N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	376						intracellular	zinc ion binding	p.S376I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TACAACCATAGTGATGCCAGG	0.388										HNSCC(36;0.09)			13	36					0	0	0	0	A	88963423	G	A	88963423	3	1	371	1	0	0	0	0	1	0	0	0	18264	1029	36	4	1141	4	ZNF804B	7	88963423	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	40606667	88963423	70175240	40	71657											
POLR2J	5439	broad.mit.edu	37	chr7	102119269	102119269	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acttacttcttctcgccctcGaagagcaagaacgactcgaa	12	9	7	13	4	2	2	0	0	2	2	5	5	2	2	1	0	3	1	1	0	5	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:102119269G>C	ENST00000292614.5	-	1	85	c.39C>G	c.(37-39)ttC>ttG	p.F13L	POLR2J_ENST00000393794.3_Missense_Mutation_p.F13L	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa	13					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity			pancreas(2)	2						TCTCGCCCTCGAAGAGCAAGA	0.687											OREG0018232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	60					0	0	0	0	C	102119269	G	C	102119269	3	2	371	1	0	0	0	0	1	0	0	0	12295	1049	37	3	330	3	POLR2J	7	102119269	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	13155846	102119269	57019394	41	71658											
DLC1	10395	broad.mit.edu	37	chr8	12957810	12957810	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctttgtgcttgctgtgatggGagctcttgagcttcaggctc	4	15	13	9	0	2	2	1	2	1	0	3	3	2	3	0	2	4	5	0	2	0	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr8:12957810G>C	ENST00000276297.4	-	9	2445	c.2036C>G	c.(2035-2037)tCc>tGc	p.S679C	DLC1_ENST00000512044.2_Missense_Mutation_p.S276C|DLC1_ENST00000520226.1_Missense_Mutation_p.S168C|DLC1_ENST00000358919.2_Missense_Mutation_p.S242C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	679					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGTGATGGGAGCTCTTGAG	0.547													31	149					0	0	0	0	C	12957810	G	C	12957810	3	2	371	1	0	0	0	0	1	0	0	0	4587	1174	41	2	2590	2	DLC1	8	12957810	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08		12957810	133406212	42	71659											
ADAM7	8756	broad.mit.edu	37	chr8	24346709	24346709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtaaatgcagccaaaacCaataccaccagtacttgaag	17	7	6	11	0	1	1	1	1	0	0	1	1	1	1	4	0	5	3	4	0	8	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr8:24346709C>A	ENST00000175238.6	+	12	1212	c.1129C>A	c.(1129-1131)Caa>Aaa	p.Q377K	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.Q377K|ADAM7_ENST00000520720.1_Missense_Mutation_p.Q149K	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	377	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAGCCAAAACCAATACCACCA	0.353													7	67					0.000442599	0.000459956	1	0	A	24346709	C	A	24346709	3	1	371	1	0	0	0	0	1	0	0	0	251	595	21	4	1175	4	ADAM7	8	24346709	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	11388899	24346709	122017313	43	71660											
TMEM66	51669	broad.mit.edu	37	chr8	29923609	29923609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccacgtgccagggtaggaggGaggataggacgggtagtacc	10	5	18	8	2	0	0	0	0	0	0	0	4	0	4	3	6	2	3	3	6	4	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr8:29923609G>C	ENST00000256255.6	-	5	1146	c.889C>G	c.(889-891)Ccc>Gcc	p.P297A	TMEM66_ENST00000545648.1_Missense_Mutation_p.P125A|TMEM66_ENST00000536273.1_Missense_Mutation_p.P125A	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	297						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GGGTAGGAGGGAGGATAGGAC	0.478													26	170					0	0	0	0	C	29923609	G	C	29923609	3	2	371	1	0	0	0	0	1	0	0	0	16289	1174	41	2	138	2	TMEM66	8	29923609	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	5576900	29923609	116440413	44	71661											
DPY19L4	286148	broad.mit.edu	37	chr8	95773967	95773967	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagtgcttcaacttacacaTttatgatgatgtgggagtat	11	15	10	5	0	1	3	1	3	0	0	1	4	1	4	0	1	3	2	0	1	4	5			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr8:95773967T>A	ENST00000414645.2	+	8	874	c.775T>A	c.(775-777)Ttt>Att	p.F259I		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	259						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AACTTACACATTTATGATGAT	0.343													9	38					0	0	0	0	A	95773967	T	A	95773967	3	1	371	1	0	0	0	0	1	0	0	0	4779	1493	52	5	805	5	DPY19L4	8	95773967	Missense_Mutation	SNP	T	TCGA-D6-8568-01A-11D-2394-08	65850358	95773967	50590055	45	71662											
SH3GL2	6456	broad.mit.edu	37	chr9	17793390	17793390	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaggcttcatctcagcctAgaagggaatatcaacctaaa	15	8	8	10	0	3	1	3	0	1	1	4	3	3	2	2	2	2	1	2	2	7	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr9:17793390A>T	ENST00000380607.4	+	8	874	c.754A>T	c.(754-756)Aga>Tga	p.R252*	SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.R205*	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	252					axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		ATCTCAGCCTAGAAGGGAATA	0.428													10	33					0	0	0	0	T	17793390	A	T	17793390	4	4	371	1	0	0	0	0	0	1	0	0	14339	412	15	5	784	5	SH3GL2	9	17793390	Nonsense_Mutation	SNP	A	TCGA-D6-8568-01A-11D-2394-08		17793390	123420041	46	71663											
PCSK5	5125	broad.mit.edu	37	chr9	78973658	78973658	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctatagagagagcaccagCtttgaagaggatcaggtgat	14	8	13	6	0	1	5	1	2	0	3	1	7	1	6	1	2	3	3	1	2	3	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr9:78973658C>T	ENST00000545128.1	+	37	5941	c.5403C>T	c.(5401-5403)agC>agT	p.S1801S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	618					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGAGCACCAGCTTTGAAGAGG	0.522													49	178					0	0	0	0	T	78973658	C	T	78973658	2	4	371	1	0	0	0	0	0	0	0	1	11674	812	28	4		4	PCSK5	9	78973658	Silent	SNP	C	TCGA-D6-8568-01A-11D-2394-08	61180268	78973658	62239773	47	71664											
IPPK	64768	broad.mit.edu	37	chr9	95405034	95405034	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggagaagtgttctcttacCctgagtagagatcaagggga	13	9	13	6	0	2	3	1	1	1	2	3	6	2	4	1	3	1	2	1	3	5	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr9:95405034C>T	ENST00000287996.3	-	7	839	c.563_splice	c.e7+1	p.G188_splice		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	188					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GTTCTCTTACCCTGAGTAGAG	0.557													14	79					0	0	0	0	T	95405034	C	T	95405034	5	4	371	1	0	0	0	0	0	0	1	0	7854	637	22	4	940	4	IPPK	9	95405034	Splice_Site	SNP	C	TCGA-D6-8568-01A-11D-2394-08	16431376	95405034	45808397	48	71665											
RGS3	5998	broad.mit.edu	37	chr9	116353646	116353646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaccgttggggatgatgacGaagcctcccggaagagaaag	13	5	14	9	3	0	3	0	2	0	1	1	7	1	5	3	3	1	1	3	3	3	1			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr9:116353646G>A	ENST00000374140.2	+	22	3258	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Missense_Mutation_p.E410K|RGS3_ENST00000350696.5_Missense_Mutation_p.E1017K|RGS3_ENST00000343817.5_Missense_Mutation_p.E736K|RGS3_ENST00000462143.1_Missense_Mutation_p.E338K|RGS3_ENST00000374134.3_Missense_Mutation_p.E338K	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1017					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGATGATGACGAAGCCTCCCG	0.572													16	74					0	0	0	0	A	116353646	G	A	116353646	3	1	371	1	0	0	0	0	1	0	0	0	13389	1059	37	1	3384	1	RGS3	9	116353646	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	20948612	116353646	24859785	49	71666											
LRRC8A	56262	broad.mit.edu	37	chr9	131670178	131670178	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagccaaggcgctgtttgaGaaggtgaagaagttccggac	12	7	14	8	2	0	3	0	2	0	2	1	5	1	4	2	3	1	3	2	3	5	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr9:131670178G>A	ENST00000259324.5	+	3	1258	c.735G>A	c.(733-735)gaG>gaA	p.E245E	LRRC8A_ENST00000372600.4_Silent_p.E245E|LRRC8A_ENST00000372599.3_Silent_p.E245E	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	245					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CGCTGTTTGAGAAGGTGAAGA	0.572													23	129					0	0	0	0	A	131670178	G	A	131670178	2	1	371	1	0	0	0	0	0	0	0	1	9085	933	33	2		2	LRRC8A	9	131670178	Silent	SNP	G	TCGA-D6-8568-01A-11D-2394-08	15316532	131670178	9543253	50	71667											
ARMC3	219681	broad.mit.edu	37	chr10	23297809	23297809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacaaatcagagccagcttCtggacgaaatactgttctca	14	9	8	10	1	3	2	2	0	2	2	4	4	3	3	1	1	3	2	1	1	3	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr10:23297809C>G	ENST00000298032.5	+	16	2078	c.1994C>G	c.(1993-1995)tCt>tGt	p.S665C	ARMC3_ENST00000409983.3_Missense_Mutation_p.S658C|ARMC3_ENST00000409049.3_Missense_Mutation_p.S665C|ARMC3_ENST00000376528.4_Missense_Mutation_p.S402C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	665							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGCCAGCTTCTGGACGAAAT	0.413													5	13					0	0	0	0	G	23297809	C	G	23297809	3	3	371	1	0	0	0	0	1	0	0	0	956	913	32	2	2052	2	ARMC3	10	23297809	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08		23297809	112236938	51	71668											
ZEB1	6935	broad.mit.edu	37	chr10	31815878	31815878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtctccctcacagggcGactcggacgagagagagagt	9	5	16	11	4	2	2	1	0	1	2	4	7	2	3	1	3	0	0	1	3	0	0	rs142629102		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr10:31815878G>T	ENST00000446923.2	+	9	3404	c.3013G>T	c.(3013-3015)Gac>Tac	p.D1005Y	ZEB1_ENST00000542815.3_Missense_Mutation_p.D954Y|ZEB1_ENST00000320985.10_Missense_Mutation_p.D1021Y|ZEB1_ENST00000560721.2_Missense_Mutation_p.D1001Y|ZEB1_ENST00000361642.5_Missense_Mutation_p.D1022Y	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1021	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTCACAGGGCGACTCGGACGA	0.527													4	74					1.23904e-05	1.31338e-05	1	0	T	31815878	G	T	31815878	3	4	371	1	0	0	0	0	1	0	0	0	17718	1058	37	3	3109	3	ZEB1	10	31815878	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	8518069	31815878	103718869	52	71669											
CAMK2G	818	broad.mit.edu	37	chr10	75609032	75609032	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtaccttcaggtccctgTggacgatgtcatgctggtgg	6	12	14	9	1	2	0	2	0	0	0	3	2	3	1	2	4	2	3	2	4	2	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr10:75609032T>C	ENST00000423381.1	-	6	524	c.401A>G	c.(400-402)cAc>cGc	p.H134R	CAMK2G_ENST00000372765.1_Missense_Mutation_p.H134R|CAMK2G_ENST00000351293.3_Missense_Mutation_p.H134R|CAMK2G_ENST00000305762.7_Missense_Mutation_p.H134R|CAMK2G_ENST00000322635.3_Missense_Mutation_p.H134R|CAMK2G_ENST00000322680.3_Missense_Mutation_p.H134R|CAMK2G_ENST00000394762.2_Missense_Mutation_p.H134R|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000472912.1_5'UTR	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	134	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CAGGTCCCTGTGGACGATGTC	0.512											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	33					0	0	0	0	C	75609032	T	C	75609032	3	2	371	1	0	0	0	0	1	0	0	0	2627	1696	59	5	1433	5	CAMK2G	10	75609032	Missense_Mutation	SNP	T	TCGA-D6-8568-01A-11D-2394-08	43793154	75609032	59925715	53	71670											
LIPF	8513	broad.mit.edu	37	chr10	90433492	90433492	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagtaagaactttaacacgGttagtatgcatttcaatttc	14	14	6	7	1	1	1	1	0	0	1	2	1	1	1	0	1	3	4	0	1	6	7			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr10:90433492G>T	ENST00000394375.3	+	8	959		c.e8+1		LIPF_ENST00000238983.4_Splice_Site|LIPF_ENST00000355843.2_Splice_Site	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric						lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CTTTAACACGGTTAGTATGCA	0.358													23	103					1.85244e-09	2.11898e-09	1	0	T	90433492	G	T	90433492	5	4	371	1	0	0	0	0	0	0	1	0	8877	1275	44	4	839	4	LIPF	10	90433492	Splice_Site	SNP	G	TCGA-D6-8568-01A-11D-2394-08	14824460	90433492	45101255	54	71671											
DMBT1	1755	broad.mit.edu	37	chr10	124390621	124390621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggtctgcagacagctagGgtgtggacgtgcagtttcag	7	10	17	7	1	2	1	1	0	1	1	2	2	2	2	0	4	3	4	0	4	1	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr10:124390621G>T	ENST00000368909.3	+	46	5889	c.5783G>T	c.(5782-5784)gGg>gTg	p.G1928V	DMBT1_ENST00000359586.6_Missense_Mutation_p.G648V|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1918V|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1918V|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1300V|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1300V|DMBT1_ENST00000338354.3_Missense_Mutation_p.G1928V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1928	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGACAGCTAGGGTGTGGACGT	0.552													15	88					7.93312e-07	8.63949e-07	1	0	T	124390621	G	T	124390621	3	4	371	1	0	0	0	0	1	0	0	0	4614	1232	43	4	5965	4	DMBT1	10	124390621	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	33957129	124390621	11144126	55	71672											
OR52J3	119679	broad.mit.edu	37	chr11	5067988	5067988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatttggccctttctacaaCctctgtgcctcgcatgctgg	5	14	9	13	1	2	1	0	1	2	0	3	1	2	1	3	2	4	2	3	2	2	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:5067988C>A	ENST00000380370.1	+	1	233	c.233C>A	c.(232-234)aCc>aAc	p.T78N		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTCTACAACCTCTGTGCCT	0.498													18	57					5.3912e-06	5.75303e-06	1	0	A	5067988	C	A	5067988	3	1	371	1	0	0	0	0	1	0	0	0	11193	507	18	4	235	4	OR52J3	11	5067988	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08		5067988	129938528	56	71673											
ANO5	203859	broad.mit.edu	37	chr11	22294525	22294525	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaatggctgtcctttctgTtgcaactaatgtaagtggac	9	14	11	7	0	1	0	0	0	1	0	2	2	2	2	1	3	2	4	1	3	4	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:22294525T>A	ENST00000324559.8	+	19	2542	c.2225T>A	c.(2224-2226)gTt>gAt	p.V742D	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	742						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCCTTTCTGTTGCAACTAAT	0.418													20	78					0	0	0	0	A	22294525	T	A	22294525	3	1	371	1	0	0	0	0	1	0	0	0	699	1725	60	5	2299	5	ANO5	11	22294525	Missense_Mutation	SNP	T	TCGA-D6-8568-01A-11D-2394-08	17226537	22294525	112711991	57	71674											
RAG2	5897	broad.mit.edu	37	chr11	36614687	36614687	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacatttcaacatatagaaAtagaatccttctgaaacaac	18	10	4	9	0	2	3	1	1	1	2	3	3	3	3	1	0	3	1	1	0	8	5			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:36614687A>G	ENST00000311485.3	-	2	1193	c.1032T>C	c.(1030-1032)taT>taC	p.Y344Y		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	344					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ACATATAGAAATAGAATCCTT	0.383									Familial Hemophagocytic Lymphohistiocytosis				42	113					0	0	0	0	G	36614687	A	G	36614687	2	3	371	1	0	0	0	0	0	0	0	1	13087	108	4	5		5	RAG2	11	36614687	Silent	SNP	A	TCGA-D6-8568-01A-11D-2394-08	14320162	36614687	98391829	58	71675											
TMEM132A	54972	broad.mit.edu	37	chr11	60703894	60703894	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgcgtggccatcttcAtcttcttggtcaatggtgtg	4	17	10	10	1	7	0	2	0	5	0	7	0	7	0	1	3	1	0	1	3	1	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:60703894A>T	ENST00000005286.4	+	11	2743	c.2590A>T	c.(2590-2592)Atc>Ttc	p.I864F	TMEM132A_ENST00000453848.2_Missense_Mutation_p.I863F	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	863	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGCCATCTTCATCTTCTTGGT	0.602													54	240					0	0	0	0	T	60703894	A	T	60703894	3	4	371	1	0	0	0	0	1	0	0	0	16139	217	8	5	2632	5	TMEM132A	11	60703894	Missense_Mutation	SNP	A	TCGA-D6-8568-01A-11D-2394-08	24089207	60703894	74302622	59	71676											
MARK2	2011	broad.mit.edu	37	chr11	63668492	63668494	+	In_Frame_Del	DEL	ACA	ACA	-																															ctcgctggtgggccagagatAcaacgaggtgatggccacct																										TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:63668492_63668494delACA	ENST00000402010.2	+	11	1631_1633	c.1052_1054delACA	c.(1051-1056)tac>t	p.YN351del	MARK2_ENST00000425897.2_In_Frame_Del_p.YN318del|MARK2_ENST00000350490.7_In_Frame_Del_p.YN351del|MARK2_ENST00000509502.2_In_Frame_Del_p.YN318del|MARK2_ENST00000408948.3_In_Frame_Del_p.YN318del|MARK2_ENST00000377810.3_In_Frame_Del_p.YN318del|MARK2_ENST00000361128.5_In_Frame_Del_p.YN351del|MARK2_ENST00000377809.4_In_Frame_Del_p.YN351del|MARK2_ENST00000513765.2_In_Frame_Del_p.YN318del|MARK2_ENST00000508192.1_In_Frame_Del_p.YN351del|MARK2_ENST00000413835.2_In_Frame_Del_p.YN351del|MARK2_ENST00000315032.8_In_Frame_Del_p.YN351del|MARK2_ENST00000502399.3_In_Frame_Del_p.YN351del	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	351	UBA.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCCAGAGATACAACGAGGTGAT	0.576													19	128	---	---	---	---					-	63668494	ACA	-	63668492	7	5	371	1	0	1	0	1	0	0	0	0	9382	391	14	0	1094	0	MARK2	11	63668492	In_Frame_Del	DEL	ACA	TCGA-D6-8568-01A-11D-2394-08	2964598	63668492	71338024	60	71677											
CCND1	595	broad.mit.edu	37	chr11	69462817	69462817	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggggagcgtggtggcCgcagtgcaaggcctgaacct	7	5	18	11	3	0	1	0	1	0	0	0	2	0	2	3	5	4	3	3	5	2	0	rs146267501		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:69462817C>T	ENST00000227507.2	+	4	857	c.630C>T	c.(628-630)gcC>gcT	p.A210A	CCND1_ENST00000536559.1_3'UTR	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	210					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	p.A210A(1)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GCGTGGTGGCCGCAGTGCAAG	0.597			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)			35	251					0	0	0	0	T	69462817	C	T	69462817	2	4	371	1	0	0	0	0	0	0	0	1	2945	639	23	1		1	CCND1	11	69462817	Silent	SNP	C	TCGA-D6-8568-01A-11D-2394-08	5794325	69462817	65543699	61	71678											
MAP6	4135	broad.mit.edu	37	chr11	75379336	75379336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtacttggtgaaaaccagcgGcacagcgatgtccgctttgt	9	10	12	10	3	0	1	0	1	0	0	1	2	1	1	2	2	4	3	2	2	3	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:75379336G>T	ENST00000434603.2	-	1	143	c.79C>A	c.(79-81)Ccg>Acg	p.P27T	MAP6_ENST00000304771.3_Missense_Mutation_p.P27T|MAP6_ENST00000526740.1_Intron	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	27						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					AAAACCAGCGGCACAGCGATG	0.701													11	57					3.07112e-06	3.29938e-06	1	0	T	75379336	G	T	75379336	3	4	371	1	0	0	0	0	1	0	0	0	9333	1203	42	4	2382	4	MAP6	11	75379336	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	5916519	75379336	59627180	62	71679											
C11orf73	51501	broad.mit.edu	37	chr11	86056626	86056626	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atatgtgttttcttttctagGtatgaaaactttcaaagacg	12	17	7	5	1	3	2	1	1	2	1	3	2	3	2	0	1	1	2	0	1	6	8			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:86056626G>A	ENST00000278483.3	+	5	766	c.539_splice	c.e5-1	p.W180_splice	C11orf73_ENST00000530208.1_3'UTR|C11orf73_ENST00000533986.1_3'UTR	NM_016401.3	NP_057485.2	Q53FT3	CK073_HUMAN	chromosome 11 open reading frame 73	180						cytoplasm				kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				TCTTTTCTAGGTATGAAAACT	0.264													3	33					0	0	0	0	A	86056626	G	A	86056626	5	1	371	1	0	0	0	0	0	0	1	0	1672	1275	44	4	558	4	C11orf73	11	86056626	Splice_Site	SNP	G	TCGA-D6-8568-01A-11D-2394-08	10677290	86056626	48949890	63	71680											
KDM4D	55693	broad.mit.edu	37	chr11	94732029	94732029	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaggatggggctttgaTggacaagcctgtaccactga	10	9	13	9	0	0	3	0	3	0	0	0	5	0	5	3	4	2	2	3	4	2	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:94732029T>G	ENST00000335080.5	+	3	2325	c.1493T>G	c.(1492-1494)aTg>aGg	p.M498R	KDM4D_ENST00000536741.1_Missense_Mutation_p.M498R	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	498					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGGGCTTTGATGGACAAGCCT	0.612													6	55					0	0	0	0	G	94732029	T	G	94732029	3	3	371	1	0	0	0	0	1	0	0	0	8184	1464	51	5	1495	5	KDM4D	11	94732029	Missense_Mutation	SNP	T	TCGA-D6-8568-01A-11D-2394-08	8675403	94732029	40274487	64	71681											
ADAMTS8	11095	broad.mit.edu	37	chr11	130278481	130278481	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccggccttgacacactgGccacggacacagatggccag	10	4	12	15	2	0	2	0	1	0	1	0	3	0	3	4	4	1	0	4	4	0	1			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:130278481G>A	ENST00000257359.6	-	8	2683	c.1977C>T	c.(1975-1977)ggC>ggT	p.G659G		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	659	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TGACACACTGGCCACGGACAC	0.602													10	149					0	0	0	0	A	130278481	G	A	130278481	2	1	371	1	0	0	0	0	0	0	0	1	272	1190	42	4		4	ADAMTS8	11	130278481	Silent	SNP	G	TCGA-D6-8568-01A-11D-2394-08	35546452	130278481	4728035	65	71682											
KIF21A	55605	broad.mit.edu	37	chr12	39716680	39716680	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctgagtggtggttctccttCgggcctagtcaaagaatgga	8	12	13	8	1	3	2	1	1	2	1	5	3	3	3	2	4	0	1	2	4	3	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:39716680C>G	ENST00000395670.3	-	26	3880	c.3461G>C	c.(3460-3462)cGa>cCa	p.R1154P	KIF21A_ENST00000361418.5_Missense_Mutation_p.R1154P|KIF21A_ENST00000361961.3_Missense_Mutation_p.R1141P|KIF21A_ENST00000541463.2_Missense_Mutation_p.R1118P|KIF21A_ENST00000544797.2_Missense_Mutation_p.R1134P			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1154					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1141Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GGTTCTCCTTCGGGCCTAGTC	0.438													21	90					0	0	0	0	G	39716680	C	G	39716680	3	3	371	1	0	0	0	0	1	0	0	0	8339	884	31	3	1611	3	KIF21A	12	39716680	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08		39716680	94135215	66	71683											
SLC4A8	9498	broad.mit.edu	37	chr12	51865171	51865171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgccagttcccttgtcTgctacattacccgtttcact	6	15	6	14	1	2	1	1	1	1	0	3	1	3	1	3	0	4	3	3	0	2	5			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:51865171T>C	ENST00000453097.2	+	14	1976	c.1759T>C	c.(1759-1761)Tgc>Cgc	p.C587R	SLC4A8_ENST00000394856.1_Missense_Mutation_p.C534R|SLC4A8_ENST00000358657.3_Missense_Mutation_p.C614R|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000535225.2_Missense_Mutation_p.C534R|SLC4A8_ENST00000514353.3_Missense_Mutation_p.C534R	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	587					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTCCCTTGTCTGCTACATTAC	0.443													37	159					0	0	0	0	C	51865171	T	C	51865171	3	2	371	1	0	0	0	0	1	0	0	0	14747	1580	55	5	1813	5	SLC4A8	12	51865171	Missense_Mutation	SNP	T	TCGA-D6-8568-01A-11D-2394-08	12148491	51865171	81986724	67	71684											
SCN8A	6334	broad.mit.edu	37	chr12	52163651	52163651	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttttccttgcgtgtctaGaaactagatgacaccagctc	9	12	7	13	1	1	3	0	1	1	2	3	3	2	3	3	0	3	1	3	0	3	5			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:52163651G>A	ENST00000354534.5	+	18	3550		c.e18-1		SCN8A_ENST00000545061.1_Splice_Site	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGCGTGTCTAGAAACTAGATG	0.527													3	9					0	0	0	0	A	52163651	G	A	52163651	5	1	371	1	0	0	0	0	0	0	1	0	14011	956	33	2	3438	2	SCN8A	12	52163651	Splice_Site	SNP	G	TCGA-D6-8568-01A-11D-2394-08	298480	52163651	81688244	68	71685											
KRT6A	3853	broad.mit.edu	37	chr12	52884359	52884359	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactccctgctcaccttggtCtggtaccaggactcagcctc	6	10	8	17	0	3	0	2	0	1	0	5	1	4	1	4	3	3	2	4	3	1	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:52884359C>T	ENST00000330722.6	-	5	1139	c.1071G>A	c.(1069-1071)caG>caA	p.Q357Q		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	357	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCACCTTGGTCTGGTACCAGG	0.577													55	231					0	0	0	0	T	52884359	C	T	52884359	2	4	371	1	0	0	0	0	0	0	0	1	8532	912	32	2		2	KRT6A	12	52884359	Silent	SNP	C	TCGA-D6-8568-01A-11D-2394-08	720708	52884359	80967536	69	71686											
STAT6	6778	broad.mit.edu	37	chr12	57500358	57500358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttctatcaagctgtgcaGagacactgagggttgggggc	9	10	15	7	0	2	2	1	1	1	1	2	3	2	2	0	3	2	4	0	3	2	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:57500358G>C	ENST00000300134.3	-	6	809	c.484C>G	c.(484-486)Ctg>Gtg	p.L162V	STAT6_ENST00000537215.2_Missense_Mutation_p.L52V|STAT6_ENST00000538913.2_Missense_Mutation_p.L52V|STAT6_ENST00000454075.3_Missense_Mutation_p.L162V|STAT6_ENST00000556155.1_Missense_Mutation_p.L162V|STAT6_ENST00000543873.2_Missense_Mutation_p.L162V	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	162					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L162L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AAGCTGTGCAGAGACACTGAG	0.522													30	108					0	0	0	0	C	57500358	G	C	57500358	3	2	371	1	0	0	0	0	1	0	0	0	15360	933	33	2	2127	2	STAT6	12	57500358	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	4615999	57500358	76351537	70	71687											
SRGAP1	57522	broad.mit.edu	37	chr12	64536247	64536247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcacaacgttgccctcaGgagctccgagcctcagattc	8	10	9	14	2	2	1	2	0	0	1	4	3	3	2	3	1	5	3	3	1	1	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:64536247G>A	ENST00000355086.3	+	22	3577	c.3053G>A	c.(3052-3054)aGg>aAg	p.R1018K	SRGAP1_ENST00000543397.1_Missense_Mutation_p.R955K|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R995K	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1018					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GTTGCCCTCAGGAGCTCCGAG	0.567													30	94					0	0	0	0	A	64536247	G	A	64536247	3	1	371	1	0	0	0	0	1	0	0	0	15235	1000	35	4	3139	4	SRGAP1	12	64536247	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	7035889	64536247	69315648	71	71688											
SLC35E3	55508	broad.mit.edu	37	chr12	69145934	69145934	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgagccagtgtttggagaAggaggaatatttggtccctg	9	13	14	5	0	0	2	0	1	0	1	1	5	1	4	2	4	1	1	2	4	3	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:69145934A>T	ENST00000398004.2	+	3	908	c.636A>T	c.(634-636)gaA>gaT	p.E212D	SLC35E3_ENST00000538043.1_3'UTR	NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	212						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TGTTTGGAGAAGGAGGAATAT	0.403													48	193					0	0	0	0	T	69145934	A	T	69145934	3	4	371	1	0	0	0	0	1	0	0	0	14674	69	3	5	646	5	SLC35E3	12	69145934	Missense_Mutation	SNP	A	TCGA-D6-8568-01A-11D-2394-08	4609687	69145934	64705961	72	71689											
PTPRB	5787	broad.mit.edu	37	chr12	70946777	70946777	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagggagagggtgctgctGttctggcttcagctcatcac	7	10	15	9	0	4	1	3	0	1	1	4	3	4	2	0	4	3	5	0	4	1	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:70946777G>A	ENST00000334414.6	-	21	5211	c.5167C>T	c.(5167-5169)Cag>Tag	p.Q1723*	PTPRB_ENST00000538708.1_Nonsense_Mutation_p.Q1415*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.Q1635*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.Q1415*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.Q1505*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.Q1415*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1505	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGTGCTGCTGTTCTGGCTTC	0.453													27	172					0	0	0	0	A	70946777	G	A	70946777	4	1	371	1	0	0	0	0	0	1	0	0	12878	1386	48	4	1536	4	PTPRB	12	70946777	Nonsense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	1800843	70946777	62905118	73	71690											
RNF219	79596	broad.mit.edu	37	chr13	79213140	79213140	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagaatagttttgatctGtgactccaagctgagatttt	11	15	8	7	0	1	4	0	3	1	2	3	5	3	4	2	0	1	2	2	0	3	5			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr13:79213140G>A	ENST00000282003.6	-	4	425	c.367C>T	c.(367-369)Cag>Tag	p.Q123*		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	123							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTTTTGATCTGTGACTCCAAG	0.378													16	52					0	0	0	0	A	79213140	G	A	79213140	4	1	371	1	0	0	0	0	0	1	0	0	13567	1386	48	4	1825	4	RNF219	13	79213140	Nonsense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08		79213140	35956738	74	71691											
NYNRIN	57523	broad.mit.edu	37	chr14	24886020	24886020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagtttgcccggcacGtccttgtgagctgtgggctg	3	10	15	13	2	0	1	0	1	0	0	1	1	1	1	4	3	2	4	4	3	0	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:24886020G>A	ENST00000382554.3	+	9	5383	c.5065G>A	c.(5065-5067)Gtc>Atc	p.V1689I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1689	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCCCGGCACGTCCTTGTGAG	0.657													7	38					0	0	0	0	A	24886020	G	A	24886020	3	1	371	1	0	0	0	0	1	0	0	0	10867	1145	40	1	5095	1	NYNRIN	14	24886020	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08		24886020	82463520	75	71692											
SAMD4A	23034	broad.mit.edu	37	chr14	55169180	55169180	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcgggattctgggatttgCatcaatgcctccaactggca	8	12	10	11	1	3	0	1	0	2	0	5	2	4	2	2	3	3	2	2	3	2	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:55169180C>T	ENST00000251091.5	+	2	902	c.597C>T	c.(595-597)tgC>tgT	p.C199C	SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000554335.1_Silent_p.C199C|SAMD4A_ENST00000392067.3_Silent_p.C199C|SAMD4A_ENST00000357634.3_Silent_p.C198C	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	199					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CTGGGATTTGCATCAATGCCT	0.498													47	82					0	0	0	0	T	55169180	C	T	55169180	2	4	371	1	0	0	0	0	0	0	0	1	13906	718	25	4		4	SAMD4A	14	55169180	Silent	SNP	C	TCGA-D6-8568-01A-11D-2394-08	30283160	55169180	52180360	76	71693											
NAA30	122830	broad.mit.edu	37	chr14	57857969	57857969	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggcacctccgggcggcCgcctccctcaagagcaaggt	6	5	13	17	4	1	1	1	0	0	1	3	1	3	1	5	4	2	2	5	4	2	0			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:57857969C>G	ENST00000556492.1	+	2	448	c.294C>G	c.(292-294)gcC>gcG	p.A98A	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	98						cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						TCCGGGCGGCCGCCTCCCTCA	0.692													9	68					0	0	0	0	G	57857969	C	G	57857969	2	3	371	1	0	0	0	0	0	0	0	1	10192	639	23	3		3	NAA30	14	57857969	Silent	SNP	C	TCGA-D6-8568-01A-11D-2394-08	2688789	57857969	49491571	77	71694											
POMT2	29954	broad.mit.edu	37	chr14	77745121	77745121	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaagtagtggtggaagtaGaggacccggcccatcaggaa	12	5	17	7	1	1	1	1	0	0	1	1	5	1	5	2	6	0	2	2	6	5	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:77745121G>C	ENST00000261534.4	-	19	2185	c.1983C>G	c.(1981-1983)ctC>ctG	p.L661L		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	661					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GGTGGAAGTAGAGGACCCGGC	0.617													42	63					0	0	0	0	C	77745121	G	C	77745121	2	2	371	1	0	0	0	0	0	0	0	1	12318	929	33	2		2	POMT2	14	77745121	Silent	SNP	G	TCGA-D6-8568-01A-11D-2394-08	19887152	77745121	29604419	78	71695											
YY1	7528	broad.mit.edu	37	chr14	100705835	100705835	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacccgcccatgatcgCtctgcagccgctggtcaccg	6	6	9	20	4	2	1	1	1	1	0	3	1	2	1	6	1	2	3	6	1	0	0			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:100705835C>G	ENST00000262238.4	+	1	514	c.254C>G	c.(253-255)gCt>gGt	p.A85G		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	85					cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCCATGATCGCTCTGCAGCCG	0.736													26	39					0	0	0	0	G	100705835	C	G	100705835	3	3	371	1	0	0	0	0	1	0	0	0	17603	797	28	4	256	4	YY1	14	100705835	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	22960714	100705835	6643705	79	71696											
BUB1B	701	broad.mit.edu	37	chr15	40494877	40494878	+	Frame_Shift_Del	DEL	TG	TG	-																															agcatcacctcaaatgaagaTgtgtctccagatgtttgtgt																										TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr15:40494877_40494878delTG	ENST00000287598.6	+	14	1911_1912	c.1716_1717delTG	c.(1714-1719)gatgfs	p.DV572fs	BUB1B_ENST00000412359.3_Frame_Shift_Del_p.DV586fs	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	572					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CAAATGAAGATGTGTCTCCAGA	0.406			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				23	122	---	---	---	---					-	40494878	TG	-	40494877	7	5	371	1	0	1	0	1	0	0	0	0	1580	1461	51	0	1770	0	BUB1B	15	40494877	Frame_Shift_Del	DEL	TG	TCGA-D6-8568-01A-11D-2394-08		40494877	62036515	80	71697											
AXIN1	8312	broad.mit.edu	37	chr16	396885	396885	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctttaatgccaacacctttCccggagcagaaactgtagct	11	10	7	13	1	0	1	0	0	0	1	1	2	1	2	4	1	5	3	4	1	4	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:396885C>A	ENST00000262320.3	-	2	512	c.141G>T	c.(139-141)ggG>ggT	p.G47G	AXIN1_ENST00000354866.3_Silent_p.G47G|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	47					activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAACACCTTTCCCGGAGCAGA	0.627											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	14	79					1.3612e-06	1.47232e-06	1	0	A	396885	C	A	396885	2	1	371	1	0	0	0	0	0	0	0	1	1240	842	30	2		2	AXIN1	16	396885	Silent	SNP	C	TCGA-D6-8568-01A-11D-2394-08		396885	89957868	81	71698											
USP7	7874	broad.mit.edu	37	chr16	8998332	8998332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcctgccgctccttcCgcttctgagcctcgatcctt	2	13	9	17	3	1	1	0	1	1	0	6	2	5	1	6	1	2	3	6	1	0	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:8998332C>T	ENST00000344836.4	-	15	1862	c.1664G>A	c.(1663-1665)cGg>cAg	p.R555Q	USP7_ENST00000381886.4_Missense_Mutation_p.R539Q|USP7_ENST00000535863.1_Missense_Mutation_p.R456Q	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	555					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CCGCTCCTTCCGCTTCTGAGC	0.562													18	89					0	0	0	0	T	8998332	C	T	8998332	3	4	371	1	0	0	0	0	1	0	0	0	17184	652	23	1	1712	1	USP7	16	8998332	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	8601447	8998332	81356421	82	71699											
EEF2K	29904	broad.mit.edu	37	chr16	22269984	22269984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttcttccccatcttcggCcacaccacacagccagaagc	9	7	5	20	1	2	1	0	0	2	1	4	1	3	1	6	1	2	0	6	1	1	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:22269984C>T	ENST00000263026.5	+	10	1673	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	400					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CCATCTTCGGCCACACCACAC	0.592													19	138					0	0	0	0	T	22269984	C	T	22269984	3	4	371	1	0	0	0	0	1	0	0	0	4966	739	26	4	1233	4	EEF2K	16	22269984	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	13271652	22269984	68084769	83	71700											
CES2	8824	broad.mit.edu	37	chr16	66977254	66977254	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaagatgatgaagtactgGgccaactttgcgagaaatgg	14	8	14	5	1	0	4	0	2	0	2	0	6	0	5	1	3	3	1	1	3	5	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:66977254G>A	ENST00000317091.4	+	11	2649	c.1665G>A	c.(1663-1665)tgG>tgA	p.W555*	CES2_ENST00000417689.1_Nonsense_Mutation_p.W539*|RP11-361L15.4_ENST00000566869.1_RNA	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	491					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TGAAGTACTGGGCCAACTTTG	0.532													47	65					0	0	0	0	A	66977254	G	A	66977254	4	1	371	1	0	0	0	0	0	1	0	0	3299	1241	43	4	1707	4	CES2	16	66977254	Nonsense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	44707270	66977254	23377499	84	71701											
TPPP3	51673	broad.mit.edu	37	chr16	67424190	67424190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgcccttgccgctctcatCgaagcgctccttgtgggagc	4	11	11	15	3	1	0	1	0	1	0	4	2	2	1	3	1	4	2	3	1	1	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:67424190C>T	ENST00000564104.1	-	3	1259	c.418G>A	c.(418-420)Gat>Aat	p.D140N	TPPP3_ENST00000290942.5_Missense_Mutation_p.D140N|TPPP3_ENST00000393957.2_Missense_Mutation_p.D140N|TPPP3_ENST00000562206.1_Missense_Mutation_p.D140N			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	140					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CCGCTCTCATCGAAGCGCTCC	0.592													33	262					0	0	0	0	T	67424190	C	T	67424190	3	4	371	1	0	0	0	0	1	0	0	0	16510	884	31	1	116	1	TPPP3	16	67424190	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	446936	67424190	22930563	85	71702											
FANCA	2175	broad.mit.edu	37	chr16	89869667	89869667	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgacttttcctcctacCtgcggcattttttcaggctc	5	16	6	14	1	1	1	1	1	0	0	4	1	3	1	3	2	2	2	3	2	1	7			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:89869667C>T	ENST00000389301.3	-	8	822	c.792_splice	c.e8+1	p.Q264_splice	FANCA_ENST00000568369.1_Splice_Site_p.Q264_splice|FANCA_ENST00000563673.1_Splice_Site_p.Q264_splice|FANCA_ENST00000534992.1_Splice_Site_p.Q264_splice|FANCA_ENST00000543736.1_Splice_Site_p.Q232_splice|FANCA_ENST00000389302.3_Splice_Site_p.Q264_splice	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	264					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTCCTCCTACCTGCGGCATTT	0.398			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	135					0	0	0	0	T	89869667	C	T	89869667	5	4	371	1	0	0	0	0	0	0	1	0	5707	695	24	4	3724	4	FANCA	16	89869667	Splice_Site	SNP	C	TCGA-D6-8568-01A-11D-2394-08	22445477	89869667	485086	86	71703											
PFN1	5216	broad.mit.edu	37	chr17	4849956	4849957	+	Frame_Shift_Ins	INS	-	-	G																															gtgacagtgacattgaaggtINSgggggccccaccggtgctct																										TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:4849956_4849957insG	ENST00000225655.5	-	2	910_911	c.291_292insC	c.(289-294)ccccttfs	p.L98fs	PFN1_ENST00000574872.1_Frame_Shift_Ins_p.L62fs	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	98					actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						ACATTGAAGGTGGGGGCCCCAC	0.515													38	160	---	---	---	---					G	4849957	-	G	4849956	7	5	371	1	0	1	1	0	0	0	0	0	11839	1696	59	0	138	0	PFN1	17	4849956	Frame_Shift_Ins	INS	-	TCGA-D6-8568-01A-11D-2394-08		4849956	76345254	87	71704											
TP53	7157	broad.mit.edu	37	chr17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtgctgtgactgcttgtAgatggccatggcgcggacgc	6	10	15	10	3	0	2	0	1	0	1	0	3	0	3	1	3	2	3	1	3	1	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:7578443A>G	ENST00000420246.2	-	5	619	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000269305.4_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACTGCTTGTAGATGGCCATG	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			42	71					0	0	0	0	G	7578443	A	G	7578443	3	3	371	1	0	0	0	0	1	0	0	0	16476	420	15	5	811	5	TP53	17	7578443	Missense_Mutation	SNP	A	TCGA-D6-8568-01A-11D-2394-08	2728487	7578443	73616767	88	71705											
COX10	1352	broad.mit.edu	37	chr17	13980128	13980128	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagcatctcctttccttgAaaaaacatcttcaggtcaag	13	12	6	10	0	4	1	2	1	2	0	6	1	5	1	2	1	2	2	2	1	5	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:13980128A>G	ENST00000261643.3	+	3	331	c.254A>G	c.(253-255)gAa>gGa	p.E85G	COX10_ENST00000429152.2_Missense_Mutation_p.E85G|COX10_ENST00000537334.1_Intron|COX10_ENST00000536205.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	85					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCTTTCCTTGAAAAAACATCT	0.428													16	66					0	0	0	0	G	13980128	A	G	13980128	3	3	371	1	0	0	0	0	1	0	0	0	3792	246	9	5	264	5	COX10	17	13980128	Missense_Mutation	SNP	A	TCGA-D6-8568-01A-11D-2394-08	6401685	13980128	67215082	89	71706											
MPRIP	23164	broad.mit.edu	37	chr17	17045999	17045999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgagaaggcagagcacatgGagaccaatgcagtggggccc	12	5	15	9	0	0	3	0	1	0	3	0	5	0	3	2	4	2	3	2	4	2	1			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:17045999G>C	ENST00000395811.5	+	8	1044	c.955G>C	c.(955-957)Gag>Cag	p.E319Q	MPRIP_ENST00000444976.1_Missense_Mutation_p.E319Q|MPRIP_ENST00000395804.3_Missense_Mutation_p.E319Q|MPRIP_ENST00000341712.4_Missense_Mutation_p.E319Q	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	319	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGAGCACATGGAGACCAATGC	0.617													15	114					0	0	0	0	C	17045999	G	C	17045999	3	2	371	1	0	0	0	0	1	0	0	0	9813	1175	41	2	985	2	MPRIP	17	17045999	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	3065871	17045999	64149211	90	71707											
GPR179	440435	broad.mit.edu	37	chr17	36483148	36483148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccacactgcctgctgcctCagaactgcctctgcttctgt	5	12	7	17	0	3	1	1	0	2	1	4	1	4	1	4	0	6	2	4	0	1	1			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:36483148C>T	ENST00000342292.4	-	11	6324	c.6304G>A	c.(6304-6306)Gag>Aag	p.E2102K	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2102						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGCTGCCTCAGAACTGCCT	0.602													41	147					0	0	0	0	T	36483148	C	T	36483148	3	4	371	1	0	0	0	0	1	0	0	0	6723	835	29	2	803	2	GPR179	17	36483148	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	19437149	36483148	44712062	91	71708											
TMEM200C	645369	broad.mit.edu	37	chr18	5892029	5892029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggatcctgctttctggCggaaatccttagcaggccgc	7	10	13	11	2	1	0	0	0	1	0	3	3	3	2	3	4	2	2	3	4	2	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr18:5892029C>T	ENST00000581347.1	-	3	679	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.A12T			A6NKL6	T200C_HUMAN	transmembrane protein 200C	12						integral to membrane		p.A12T(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TGCTTTCTGGCGGAAATCCTT	0.622													21	39					0	0	0	0	T	5892029	C	T	5892029	3	4	371	1	0	0	0	0	1	0	0	0	16219	768	27	1	1835	1	TMEM200C	18	5892029	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08		5892029	72185219	92	71709											
CDH19	28513	broad.mit.edu	37	chr18	64172441	64172441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttctccacccccttcatCatcatattggaatatattct	9	17	2	13	0	6	0	3	0	3	0	7	1	6	1	3	1	0	0	3	1	4	8			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr18:64172441C>T	ENST00000262150.2	-	12	2219	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	643					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CCCCCTTCATCATCATATTGG	0.403													30	171					0	0	0	0	T	64172441	C	T	64172441	3	4	371	1	0	0	0	0	1	0	0	0	3133	826	29	2	395	2	CDH19	18	64172441	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	58280412	64172441	13904807	93	71710											
THEG	51298	broad.mit.edu	37	chr19	375967	375967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaccttcgcctgctgtcccCcatacaccggtcccttccca	5	10	6	20	2	0	1	0	1	0	0	4	1	3	1	7	1	2	1	7	1	1	3			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:375967C>T	ENST00000342640.4	-	1	46	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	THEG_ENST00000346878.2_Missense_Mutation_p.G2R	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	2					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTGCTGTCCCCCATACACCGG	0.687													6	64					0	0	0	0	T	375967	C	T	375967	3	4	371	1	0	0	0	0	1	0	0	0	15951	623	22	4	1167	4	THEG	19	375967	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08		375967	58753016	94	71711											
FZR1	51343	broad.mit.edu	37	chr19	3526180	3526181	+	Splice_Site	INS	-	-	G																															ccacctcagacaacggcaaaINSggttagggtcccagcccatc																										TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:3526180_3526181insG	ENST00000441788.2	+	4	494_495	c.259_splice	c.e4+1	p.R87_splice	FZR1_ENST00000395095.3_Splice_Site_p.R87_splice|FZR1_ENST00000313639.8_Splice_Site_p.R87_splice	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	87					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAACGGCAAAGGTTAGGGTCC	0.653													11	80	---	---	---	---					G	3526181	-	G	3526180	8	5	371	1	0	1	1	0	0	0	1	0	6186	86	3	0	268	0	FZR1	19	3526180	Splice_Site	INS	-	TCGA-D6-8568-01A-11D-2394-08	3150213	3526180	55602803	95	71712											
UBXN6	80700	broad.mit.edu	37	chr19	4446697	4446697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtggtctcgctcagcacGtagaactcctcggggtcctc	7	9	12	13	3	2	1	1	0	1	1	7	1	4	1	2	4	2	3	2	4	3	1	rs145906971		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:4446697G>A	ENST00000301281.6	-	8	844	c.720C>T	c.(718-720)taC>taT	p.Y240Y	UBXN6_ENST00000394765.3_Silent_p.Y187Y	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	240	PUB.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CGCTCAGCACGTAGAACTCCT	0.677													22	64					0	0	0	0	A	4446697	G	A	4446697	2	1	371	1	0	0	0	0	0	0	0	1	17013	1140	40	1		1	UBXN6	19	4446697	Silent	SNP	G	TCGA-D6-8568-01A-11D-2394-08	920517	4446697	54682286	96	71713											
TECR	9524	broad.mit.edu	37	chr19	14640495	14640495	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgcggagcagtagccgcCgtgggagggagccatgaagc	9	3	18	11	4	0	1	0	1	0	0	0	4	0	4	4	3	5	2	4	3	2	1			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:14640495C>A	ENST00000436007.2	+	0	89				TECR_ENST00000596073.1_De_novo_Start_InFrame|TECR_ENST00000215567.5_De_novo_Start_OutOfFrame|TECR_ENST00000600083.1_De_novo_Start_InFrame			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase						fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						CAGTAGCCGCCGTGGGAGGGA	0.622													15	82					1.02788e-11	1.21062e-11	1	0	A	14640495	C	A	14640495	1	1	371	1	0	0	0	0	0	0	0	0	15839	667	23	3		3	TECR	19	14640495	Translation_Start_Site	SNP	C	TCGA-D6-8568-01A-11D-2394-08	10193798	14640495	44488488	97	71714											
SLC25A42	284439	broad.mit.edu	37	chr19	19221647	19221647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcagcttcaccaccttcGacctcatgcagatcctgctg	8	10	7	16	1	3	1	3	0	0	1	5	2	4	1	4	0	3	4	4	0	0	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:19221647G>T	ENST00000318596.7	+	8	1070	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	307					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CACCACCTTCGACCTCATGCA	0.632													9	67					0.000673444	0.000690823	1	0	T	19221647	G	T	19221647	3	4	371	1	0	0	0	0	1	0	0	0	14595	1058	37	3	945	3	SLC25A42	19	19221647	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	4581152	19221647	39907336	98	71715											
ZNF507	22847	broad.mit.edu	37	chr19	32845186	32845186	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgccccaccaggccggagaAggacaaattctgagtctctt	11	8	10	12	1	2	2	0	1	2	1	3	4	2	3	4	3	1	0	4	3	2	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:32845186A>G	ENST00000311921.3	+	2	1642	c.1450A>G	c.(1450-1452)Agg>Ggg	p.R484G	ZNF507_ENST00000544431.1_Missense_Mutation_p.R484G|ZNF507_ENST00000355898.5_Missense_Mutation_p.R484G|ZNF507_ENST00000587084.1_3'UTR	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AGGCCGGAGAAGGACAAATTC	0.478													19	80					0	0	0	0	G	32845186	A	G	32845186	3	3	371	1	0	0	0	0	1	0	0	0	18048	63	3	5	1452	5	ZNF507	19	32845186	Missense_Mutation	SNP	A	TCGA-D6-8568-01A-11D-2394-08	13623539	32845186	26283797	99	71716											
HIPK4	147746	broad.mit.edu	37	chr19	40895722	40895722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcgcccgtgctccgccGccagcccttggctacctccc	3	8	8	22	4	1	0	0	0	1	0	4	0	3	0	7	1	3	2	7	1	1	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:40895722G>A	ENST00000291823.2	-	1	372	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	30	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTGCTCCGCCGCCAGCCCTTG	0.607													25	120					0	0	0	0	A	40895722	G	A	40895722	3	1	371	1	0	0	0	0	1	0	0	0	7169	1086	38	1	1778	1	HIPK4	19	40895722	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	8050536	40895722	18233261	100	71717											
PRX	57716	broad.mit.edu	37	chr19	40899910	40899910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccccctccatcctggccGggcctggagcccctgtctct	3	8	11	19	1	1	0	0	0	1	0	4	2	3	1	8	3	2	0	8	3	0	0			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:40899910G>T	ENST00000324001.7	-	7	4619	c.4349C>A	c.(4348-4350)cCg>cAg	p.P1450Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1450					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CATCCTGGCCGGGCCTGGAGC	0.647													22	102					1.50039e-11	1.75413e-11	1	0	T	40899910	G	T	40899910	3	4	371	1	0	0	0	0	1	0	0	0	12721	1116	39	3	40	3	PRX	19	40899910	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	4188	40899910	18229073	101	71718											
ZNF404	342908	broad.mit.edu	37	chr19	44377679	44377679	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attttctgatgttctgtaagGtgagaatgacgtctaaaagc	12	14	10	5	1	3	3	0	3	3	1	3	4	3	3	0	1	1	2	0	1	4	5			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:44377679G>C	ENST00000587539.1	-	3	686	c.687C>G	c.(685-687)caC>caG	p.H229Q	ZNF404_ENST00000324394.6_Missense_Mutation_p.H227Q	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				GTTCTGTAAGGTGAGAATGAC	0.373													19	84					0	0	0	0	C	44377679	G	C	44377679	3	2	371	1	0	0	0	0	1	0	0	0	17981	1252	44	4	975	4	ZNF404	19	44377679	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	3477769	44377679	14751304	102	71719											
KIR2DL1	3802	broad.mit.edu	37	chr19	55286879	55286879	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccatacgagtggtcaaaGtcaagtgacccactgcttgt	10	11	9	11	1	3	1	2	1	1	0	4	2	3	1	2	1	2	1	2	1	3	2			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:55286879G>A	ENST00000336077.6	+	4	673	c.633G>A	c.(631-633)aaG>aaA	p.K211K	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000291633.7_Silent_p.K211K|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	211					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AGTGGTCAAAGTCAAGTGACC	0.547													6	82					0	0	0	0	A	55286879	G	A	55286879	2	1	371	1	0	0	0	0	0	0	0	1	8368	1020	36	4		4	KIR2DL1	19	55286879	Silent	SNP	G	TCGA-D6-8568-01A-11D-2394-08	10909200	55286879	3842104	103	71720											
PEG3	5178	broad.mit.edu	37	chr19	57326712	57326712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaattgtctgaagtccttaCatttgttccgcgcttgctct	8	16	7	10	2	2	1	0	1	2	0	4	1	4	1	2	0	2	3	2	0	4	5			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:57326712C>A	ENST00000326441.9	-	10	3461	c.3098G>T	c.(3097-3099)tGt>tTt	p.C1033F	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.C907F|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.C909F|PEG3_ENST00000423103.2_Missense_Mutation_p.C1033F|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1033					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C1033F(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAAGTCCTTACATTTGTTCCG	0.468													22	54					7.45023e-12	8.84019e-12	1	0	A	57326712	C	A	57326712	3	1	371	1	0	0	0	0	1	0	0	0	11791	478	17	4	1672	4	PEG3	19	57326712	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	2039833	57326712	1802271	104	71721											
HSPA12B	116835	broad.mit.edu	37	chr20	3729034	3729034	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcgactccagcttccgTcagggtgagctgcccccggg	5	8	12	16	3	1	1	1	1	0	0	5	2	4	1	5	2	3	2	5	2	0	1			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr20:3729034T>G	ENST00000254963.2	+	8	991	c.846T>G	c.(844-846)cgT>cgG	p.R282R	HSPA12B_ENST00000542646.1_Silent_p.R116R	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	282							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCAGCTTCCGTCAGGGTGAGC	0.672													10	47					0	0	0	0	G	3729034	T	G	3729034	2	3	371	1	0	0	0	0	0	0	0	1	7457	1654	58	5		5	HSPA12B	20	3729034	Silent	SNP	T	TCGA-D6-8568-01A-11D-2394-08		3729034	59296486	105	71722											
FLRT3	23767	broad.mit.edu	37	chr20	14306847	14306847	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaagccagctgagtctcaAagcagtcataggtagagcaa	14	9	10	8	0	2	2	2	1	1	1	3	2	2	2	1	1	4	4	1	1	5	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr20:14306847A>G	ENST00000378053.3	-	2	1562	c.1306T>C	c.(1306-1308)Ttg>Ctg	p.L436L	FLRT3_ENST00000341420.4_Silent_p.L436L|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	436	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTGAGTCTCAAAGCAGTCATA	0.448													33	138					0	0	0	0	G	14306847	A	G	14306847	2	3	371	1	0	0	0	0	0	0	0	1	5985	11	1	5		5	FLRT3	20	14306847	Silent	SNP	A	TCGA-D6-8568-01A-11D-2394-08	10577813	14306847	48718673	106	71723											
CD40	958	broad.mit.edu	37	chr20	44751275	44751275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcttcgggtccagcagaagGgcacctcagaaacagacacc	12	4	12	13	1	1	3	1	0	0	3	3	3	2	3	3	3	2	3	3	3	2	1			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr20:44751275G>A	ENST00000372285.3	+	4	355	c.283G>A	c.(283-285)Ggc>Agc	p.G95S	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Missense_Mutation_p.G95S	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	95					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CCAGCAGAAGGGCACCTCAGA	0.607									Immune Deficiency with Hyper-IgM				16	92					0	0	0	0	A	44751275	G	A	44751275	3	1	371	1	0	0	0	0	1	0	0	0	3044	1232	43	4	297	4	CD40	20	44751275	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08	30444428	44751275	18274245	107	71724											
DSCAM	1826	broad.mit.edu	37	chr21	42080673	42080673	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcattgacaaagtagaggCtggagtgtaggtcttcactg	11	11	13	6	0	2	2	1	1	1	1	2	3	2	3	0	3	1	4	0	3	3	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr21:42080673C>A	ENST00000400454.1	-	2	545	c.68G>T	c.(67-69)aGc>aTc	p.S23I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	23					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAGTAGAGGCTGGAGTGTAG	0.517													34	146					2.80507e-11	3.25552e-11	1	0	A	42080673	C	A	42080673	3	1	371	1	0	0	0	0	1	0	0	0	4804	797	28	4	6098	4	DSCAM	21	42080673	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08		42080673	6049222	108	71725											
CRYBB1	1414	broad.mit.edu	37	chr22	26995540	26995540	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacgcagggactgcatctGtggctggaaggctccccact	7	7	14	13	2	1	0	0	0	1	0	2	3	2	2	2	4	1	4	2	4	1	0			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr22:26995540G>C	ENST00000215939.2	-	6	803	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	225	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GACTGCATCTGTGGCTGGAAG	0.617													28	93					0	0	0	0	C	26995540	G	C	26995540	3	2	371	1	0	0	0	0	1	0	0	0	3940	1386	48	4	89	4	CRYBB1	22	26995540	Missense_Mutation	SNP	G	TCGA-D6-8568-01A-11D-2394-08		26995540	24309026	109	71726											
CENPM	79019	broad.mit.edu	37	chr22	42335078	42335078	+	Frame_Shift_Del	DEL	G	G	-																															cctcacaggtcctccagggaGgggccctcagagcttctcag																										TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr22:42335078delG	ENST00000402338.1	-	5	664	c.423delC	c.(421-423)ccfs	p.P141fs	CENPM_ENST00000215980.5_Frame_Shift_Del_p.P175fs|CENPM_ENST00000404067.1_3'UTR|CENPM_ENST00000472374.2_Frame_Shift_Del_p.P53fs|CENPM_ENST00000407253.3_3'UTR			Q9NSP4	CENPM_HUMAN	centromere protein M	175					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus				kidney(1)|large_intestine(1)|prostate(1)	3						CCTCCAGGGAGGGGCCCTCAG	0.632													11	79	---	---	---	---					-	42335078	G	-	42335078	7	5	371	1	0	1	0	1	0	0	0	0	3266	987	35	0	21	0	CENPM	22	42335078	Frame_Shift_Del	DEL	G	TCGA-D6-8568-01A-11D-2394-08	15339538	42335078	8969488	110	71727											
RS1	6247	broad.mit.edu	37	chrX	18674850	18674850	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaatcgcacttgcatgctTtttggtaccaggggtcctcg	6	12	12	11	2	0	0	0	0	0	0	3	0	1	0	2	4	3	5	2	4	2	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chrX:18674850T>G	ENST00000379984.3	-	3	147	c.107A>C	c.(106-108)aAa>aCa	p.K36T		NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	36					cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CTTGCATGCTTTTTGGTACCA	0.567													40	78					0	0	0	0	G	18674850	T	G	18674850	3	3	371	1	0	0	0	0	1	0	0	0	13778	1841	64	5	583	5	RS1	23	18674850	Missense_Mutation	SNP	T	TCGA-D6-8568-01A-11D-2394-08		18674850	136595710	111	71728											
KDM6A	7403	broad.mit.edu	37	chrX	44942798	44942798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccatgttggtcataccatAttgggcatgaacacagttca	12	11	9	9	0	2	1	2	1	0	0	2	1	2	1	2	2	3	3	2	2	3	5			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chrX:44942798A>G	ENST00000377967.4	+	23	3419	c.3378A>G	c.(3376-3378)atA>atG	p.I1126M	KDM6A_ENST00000382899.4_Missense_Mutation_p.I1133M|KDM6A_ENST00000543216.1_Missense_Mutation_p.I1047M|KDM6A_ENST00000536777.1_Missense_Mutation_p.I1081M	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1126	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTCATACCATATTGGGCATGA	0.398			"D, N, F, S"		"renal, oesophageal SCC, MM"								5	18					0	0	0	0	G	44942798	A	G	44942798	3	3	371	1	0	0	0	0	1	0	0	0	8189	439	16	5	3468	5	KDM6A	23	44942798	Missense_Mutation	SNP	A	TCGA-D6-8568-01A-11D-2394-08	26267948	44942798	110327762	112	71729											
UBE2NL	389898	broad.mit.edu	37	chrX	142967437	142967437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatgaccaaaatttatcatCcaaatgtagacaagttggaa	17	11	6	7	0	2	2	2	1	0	1	3	3	3	3	2	1	0	2	2	1	7	4			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chrX:142967437C>A	ENST00000370494.1	+	1	265	c.235C>A	c.(235-237)Cca>Aca	p.P79T		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	79							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AATTTATCATCCAAATGTAGA	0.423													54	58					1.07234e-20	1.32173e-20	1	0	A	142967437	C	A	142967437	3	1	371	1	0	0	0	0	1	0	0	0	16963	855	30	2	237	2	UBE2NL	23	142967437	Missense_Mutation	SNP	C	TCGA-D6-8568-01A-11D-2394-08	98024639	142967437	12303123	113	71730											
F8	2157	broad.mit.edu	37	chrX	154194412	154194412	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcaaatattgacttttatAacttctgtataagagaaaaa	17	15	5	4	0	2	2	1	1	1	1	2	3	2	2	0	0	1	2	0	0	8	9			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chrX:154194412A>G	ENST00000360256.4	-	9	1476	c.1276T>C	c.(1276-1278)Tat>Cat	p.Y426H	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	426	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGACTTTTATAACTTCTGTAT	0.358													22	22					0	0	0	0	G	154194412	A	G	154194412	3	3	371	1	0	0	0	0	1	0	0	0	5388	362	13	5	5879	5	F8	23	154194412	Missense_Mutation	SNP	A	TCGA-D6-8568-01A-11D-2394-08	11226975	154194412	1076148	114	71731											
THAP3	90326	broad.mit.edu	37	chr1	6688666	6688666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccgagcacttccggcCagagtgcttcagcgcctttg	5	10	11	15	3	1	1	1	0	0	1	3	2	3	1	4	1	4	3	4	1	0	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:6688666C>T	ENST00000377627.3	+	2	209	c.182C>T	c.(181-183)cCa>cTa	p.P61L	THAP3_ENST00000054650.4_Missense_Mutation_p.P61L|THAP3_ENST00000307896.6_Missense_Mutation_p.P61L	NM_138350.3	NP_612359.2	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	61							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CACTTCCGGCCAGAGTGCTTC	0.607													7	37					0	0	0	0	T	6688666	C	T	6688666	3	4	372	1	0	0	0	0	1	0	0	0	15939	594	21	4	188	4	THAP3	1	6688666	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08		6688666	242561955	1	71732											
PRAMEF18	391003	broad.mit.edu	37	chr1	13475069	13475069	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacagtccactaagaagaGggtctgaagagtggcagcaa	14	5	12	10	0	1	4	0	1	1	3	2	4	2	4	2	2	1	2	2	2	4	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:13475069G>C	ENST00000376126.2	-	3	1059	c.1060C>G	c.(1060-1062)Ctc>Gtc	p.L354V		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	354										lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTAAGAAGAGGGTCTGAAGA	0.547													78	197					0	0	0	0	C	13475069	G	C	13475069	3	2	372	1	0	0	0	0	1	0	0	0	12510	1000	35	4	383	4	PRAMEF18	1	13475069	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	6786403	13475069	235775552	2	71733											
KDM1A	23028	broad.mit.edu	37	chr1	23395150	23395150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taataagcctgtgtcccttgGccaggcattggaagttgtca	9	12	11	9	0	1	0	1	0	0	0	2	1	2	1	3	3	1	2	3	3	3	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:23395150G>A	ENST00000400181.4	+	11	1402	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	KDM1A_ENST00000542151.1_Missense_Mutation_p.G433D|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.G409D	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	409	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GTGTCCCTTGGCCAGGCATTG	0.368													10	46					0	0	0	0	A	23395150	G	A	23395150	3	1	372	1	0	0	0	0	1	0	0	0	8175	1203	42	4	1340	4	KDM1A	1	23395150	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	9920081	23395150	225855471	3	71734											
TMEM54	113452	broad.mit.edu	37	chr1	33360449	33360449	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcagctcagcaggtcaCggccctccaccagctctggg	6	7	13	15	1	3	0	2	0	1	0	4	0	4	0	3	4	4	4	3	4	0	0			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:33360449C>A	ENST00000373463.3	-	6	745	c.626G>T	c.(625-627)cGt>cTt	p.R209L	TMEM54_ENST00000329151.5_Missense_Mutation_p.R156L|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	209						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CAGCAGGTCACGGCCCTCCAC	0.632													11	48					2.27111e-07	2.43628e-07	1	0	A	33360449	C	A	33360449	3	1	372	1	0	0	0	0	1	0	0	0	16274	536	19	3	46	3	TMEM54	1	33360449	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	9965299	33360449	215890172	4	71735											
RLF	6018	broad.mit.edu	37	chr1	40702813	40702813	+	Frame_Shift_Del	DEL	C	C	-																															ggctgtaaaaagttctattaCtccaaaattgaataccagaa																										TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:40702813delC	ENST00000372771.4	+	8	2466	c.2439delC	c.(2437-2439)tafs	p.Y813fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	813					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGTTCTATTACTCCAAAATTG	0.383													18	47	---	---	---	---					-	40702813	C	-	40702813	7	5	372	1	0	1	0	1	0	0	0	0	13474	576	20	0	2469	0	RLF	1	40702813	Frame_Shift_Del	DEL	C	TCGA-D6-8569-01A-11D-2394-08	7342364	40702813	208547808	5	71736											
DNAJC6	9829	broad.mit.edu	37	chr1	65867547	65867547	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactctggatccttttgcCgaccttgggacactaggtac	8	11	10	12	1	1	1	0	0	1	1	2	4	2	3	3	3	2	1	3	3	2	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:65867547C>A	ENST00000395325.3	+	15	2197	c.2040C>A	c.(2038-2040)gcC>gcA	p.A680A	DNAJC6_ENST00000371069.4_Silent_p.A737A|DNAJC6_ENST00000263441.7_Silent_p.A667A	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	680	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATCCTTTTGCCGACCTTGGGA	0.463													17	41					6.49762e-13	7.51685e-13	1	0	A	65867547	C	A	65867547	2	1	372	1	0	0	0	0	0	0	0	1	4689	639	23	3		3	DNAJC6	1	65867547	Silent	SNP	C	TCGA-D6-8569-01A-11D-2394-08	25164734	65867547	183383074	6	71737											
SSX2IP	117178	broad.mit.edu	37	chr1	85135479	85135479	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgaagcacaagcagctcaTtcatacaatttagtacagct	14	10	7	10	0	2	1	2	1	0	0	2	1	2	1	0	0	6	6	0	0	6	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:85135479T>A	ENST00000437941.2	-	3	582	c.230A>T	c.(229-231)aAt>aTt	p.N77I	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.N104I|SSX2IP_ENST00000342203.3_Missense_Mutation_p.N104I|SSX2IP_ENST00000605755.1_Missense_Mutation_p.N77I	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	104					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAGCAGCTCATTCATACAATT	0.393													14	82					0	0	0	0	A	85135479	T	A	85135479	3	1	372	1	0	0	0	0	1	0	0	0	15294	1493	52	5	1577	5	SSX2IP	1	85135479	Missense_Mutation	SNP	T	TCGA-D6-8569-01A-11D-2394-08	19267932	85135479	164115142	7	71738											
DPYD	1806	broad.mit.edu	37	chr1	98205982	98205982	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgatgaatgatttaataTcaagattagttggacagctc	13	15	9	4	0	1	4	1	3	0	1	2	5	1	5	0	1	1	2	0	1	5	6			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:98205982T>A	ENST00000370192.3	-	4	387	c.287A>T	c.(286-288)gAt>gTt	p.D96V	DPYD_ENST00000306031.5_Missense_Mutation_p.D96V|DPYD_ENST00000423006.2_Missense_Mutation_p.D59V	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	96	4Fe-4S ferredoxin-type 1.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGATTTAATATCAAGATTAGT	0.328													20	82					0	0	0	0	A	98205982	T	A	98205982	3	1	372	1	0	0	0	0	1	0	0	0	4781	1435	50	5	2913	5	DPYD	1	98205982	Missense_Mutation	SNP	T	TCGA-D6-8569-01A-11D-2394-08	13070503	98205982	151044639	8	71739											
LRIG2	9860	broad.mit.edu	37	chr1	113657172	113657172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggactaaagatgatgggcCtttgctggtgacagaacgac	11	9	13	8	1	0	4	0	2	0	2	0	6	0	5	1	3	2	1	1	3	3	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:113657172C>T	ENST00000361127.4	+	15	2402	c.2204C>T	c.(2203-2205)cCt>cTt	p.P735L	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	735	Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GATGATGGGCCTTTGCTGGTG	0.493													22	74					0	0	0	0	T	113657172	C	T	113657172	3	4	372	1	0	0	0	0	1	0	0	0	9009	681	24	4	2262	4	LRIG2	1	113657172	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	15451190	113657172	135593449	9	71740											
TSHB	7252	broad.mit.edu	37	chr1	115576008	115576008	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctctttctgatgtccAtgctttttggccttacatgt	4	19	7	11	0	2	1	0	1	2	0	4	1	3	1	2	1	3	2	2	1	1	4			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:115576008A>G	ENST00000256592.1	+	2	93	c.25A>G	c.(25-27)Atg>Gtg	p.M9V	TSHB_ENST00000369517.1_Missense_Mutation_p.M9V	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	9					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCTGATGTCCATGCTTTTTGG	0.368													24	52					0	0	0	0	G	115576008	A	G	115576008	3	3	372	1	0	0	0	0	1	0	0	0	16716	217	8	5	27	5	TSHB	1	115576008	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08	1918836	115576008	133674613	10	71741											
ADAM30	11085	broad.mit.edu	37	chr1	120438120	120438120	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgagcatttaatacacttttTttatatattacaaatctgcc	13	17	3	8	1	1	0	0	0	1	0	1	1	1	0	1	0	4	1	1	0	7	10			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:120438120T>C	ENST00000369400.1	-	1	998	c.840A>G	c.(838-840)aaA>aaG	p.K280K		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	280	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATACACTTTTTTTATATATTA	0.343													36	48					0	0	0	0	C	120438120	T	C	120438120	2	2	372	1	0	0	0	0	0	0	0	1	248	1838	64	5		5	ADAM30	1	120438120	Silent	SNP	T	TCGA-D6-8569-01A-11D-2394-08	4862112	120438120	128812501	11	71742											
S100A7A	338324	broad.mit.edu	37	chr1	153391748	153391748	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagactaccacaagcagaGccatggagcggcgccctgtt	10	5	12	14	3	0	2	0	0	0	2	0	3	0	3	3	2	4	3	3	2	2	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:153391748G>T	ENST00000368729.4	+	3	326	c.269G>T	c.(268-270)aGc>aTc	p.S90I	S100A7A_ENST00000368728.2_Missense_Mutation_p.S90I|S100A7A_ENST00000329256.2_Missense_Mutation_p.S90I	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	90						cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAAGCAGAGCCATGGAGCG	0.527													8	51					0.000274275	0.000282248	1	0	T	153391748	G	T	153391748	3	4	372	1	0	0	0	0	1	0	0	0	13869	971	34	4	275	4	S100A7A	1	153391748	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	32953628	153391748	95858873	12	71743											
ATP1A4	480	broad.mit.edu	37	chr1	160133951	160133951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcatccacaggaaccGcccggggtattgtgattgct	7	11	11	12	2	1	1	1	1	0	0	2	2	2	2	3	3	3	3	3	3	2	4			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:160133951G>A	ENST00000368081.4	+	7	1255	c.784G>A	c.(784-786)Gcc>Acc	p.A262T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	262					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAGGAACCGCCCGGGGTAT	0.527													10	87					0	0	0	0	A	160133951	G	A	160133951	3	1	372	1	0	0	0	0	1	0	0	0	1135	1087	38	1	810	1	ATP1A4	1	160133951	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	6742203	160133951	89116670	13	71744											
CACNA1E	777	broad.mit.edu	37	chr1	181702832	181702832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccgagagcaccagcGtcaccgtcgccatccccgac	9	3	8	21	5	1	1	1	0	0	1	3	3	2	1	8	0	2	1	8	0	0	0			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:181702832G>A	ENST00000526775.1	+	20	3316	c.3151G>A	c.(3151-3153)Gtc>Atc	p.V1051I	CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1002I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V677I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1021I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1051I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1070I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1070I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1070					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGCACCAGCGTCACCGTCGC	0.632													4	28					0	0	0	0	A	181702832	G	A	181702832	3	1	372	1	0	0	0	0	1	0	0	0	2567	1145	40	1	3290	1	CACNA1E	1	181702832	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	21568881	181702832	67547789	14	71745											
KIF21B	23046	broad.mit.edu	37	chr1	200978027	200978027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatgccctgctcctcctccGacgttgccatgtcaaagcca	7	10	8	16	2	1	1	1	1	0	0	4	2	4	1	6	0	4	2	6	0	1	1	rs140589352	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:200978027G>A	ENST00000332129.2	-	3	633	c.317C>T	c.(316-318)tCg>tTg	p.S106L	KIF21B_ENST00000360529.5_Missense_Mutation_p.S106L|KIF21B_ENST00000461742.2_Missense_Mutation_p.S106L|KIF21B_ENST00000422435.2_Missense_Mutation_p.S106L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	106	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCCTCCTCCGACGTTGCCAT	0.642													6	101					0	0	0	0	A	200978027	G	A	200978027	3	1	372	1	0	0	0	0	1	0	0	0	8340	1059	37	1	4685	1	KIF21B	1	200978027	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	19275195	200978027	48272594	15	71746											
EPHX1	2052	broad.mit.edu	37	chr1	226030159	226030159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggaattccgatacctggagGatggaggcctggaaaggtga	11	7	16	7	2	0	1	0	1	0	0	1	7	1	6	3	7	1	0	3	7	3	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:226030159G>A	ENST00000366837.4	+	7	1220	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	EPHX1_ENST00000272167.5_Missense_Mutation_p.D342N|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	342					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					ATACCTGGAGGATGGAGGCCT	0.572													17	38					0	0	0	0	A	226030159	G	A	226030159	3	1	372	1	0	0	0	0	1	0	0	0	5217	1174	41	2	1046	2	EPHX1	1	226030159	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	25052132	226030159	23220462	16	71747											
OBSCN	84033	broad.mit.edu	37	chr1	228433259	228433259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaagaagctgagctccagCtcaaaagtacgcatggaggt	13	6	14	8	1	1	2	1	1	0	1	2	4	2	4	1	3	4	5	1	3	5	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:228433259C>T	ENST00000570156.2	+	13	3977	c.3903C>T	c.(3901-3903)agC>agT	p.S1301S	OBSCN_ENST00000422127.1_Silent_p.S1209S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.S1209S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	280	Ig-like 13.|Poly-Ser.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAGCTCCAGCTCAAAAGTAC	0.627													12	75					0	0	0	0	T	228433259	C	T	228433259	2	4	372	1	0	0	0	0	0	0	0	1	10883	796	28	4		4	OBSCN	1	228433259	Silent	SNP	C	TCGA-D6-8569-01A-11D-2394-08	2403100	228433259	20817362	17	71748											
HEATR1	55127	broad.mit.edu	37	chr1	236760165	236760165	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagggaaatagtttggcgaTgatattgtctgatacgtcct	11	14	11	5	2	1	2	0	2	1	0	2	4	2	3	1	2	1	1	1	2	5	6			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:236760165T>A	ENST00000366582.3	-	6	829	c.715A>T	c.(715-717)Atc>Ttc	p.I239F	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Missense_Mutation_p.I239F	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	239					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGTTTGGCGATGATATTGTCT	0.433													28	65					0	0	0	0	A	236760165	T	A	236760165	3	1	372	1	0	0	0	0	1	0	0	0	7077	1464	51	5	5879	5	HEATR1	1	236760165	Missense_Mutation	SNP	T	TCGA-D6-8569-01A-11D-2394-08	8326906	236760165	12490456	18	71749											
FMN2	56776	broad.mit.edu	37	chr1	240371421	240371421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctccgccccctctaccCggagtgggcatacctcctcc	4	7	7	23	2	1	0	0	0	1	0	4	1	4	1	9	2	2	1	9	2	2	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:240371421C>T	ENST00000319653.9	+	5	3539	c.3309C>T	c.(3307-3309)ccC>ccT	p.P1103P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1103	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1246P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGTGGGCA	0.736													3	27					0	0	0	0	T	240371421	C	T	240371421	2	4	372	1	0	0	0	0	0	0	0	1	5995	639	23	1		1	FMN2	1	240371421	Silent	SNP	C	TCGA-D6-8569-01A-11D-2394-08	3611256	240371421	8879200	19	71750											
OR2M3	127062	broad.mit.edu	37	chr1	248367151	248367151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctttgttcatgtacatacGgcccacatctgatcgctccc	8	12	7	14	2	2	1	1	1	1	0	4	1	3	1	2	1	3	4	2	1	2	4	rs145845024		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:248367151G>T	ENST00000456743.1	+	1	820	c.782G>T	c.(781-783)cGg>cTg	p.R261L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGTACATACGGCCCACATCT	0.502													26	170					3.01185e-09	3.33186e-09	1	0	T	248367151	G	T	248367151	3	4	372	1	0	0	0	0	1	0	0	0	11082	1116	39	3	784	3	OR2M3	1	248367151	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	7995730	248367151	883470	20	71751											
LCLAT1	253558	broad.mit.edu	37	chr2	30756078	30756078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatcatgaaccatcggacaAgaatggactggatgttcctg	12	11	10	8	1	1	2	1	1	0	1	3	5	2	5	2	3	1	1	2	3	4	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:30756078A>G	ENST00000309052.4	+	4	585	c.376A>G	c.(376-378)Aga>Gga	p.R126G	LCLAT1_ENST00000540623.1_Missense_Mutation_p.R88G|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.R88G|LCLAT1_ENST00000319406.4_Missense_Mutation_p.R126G|LCLAT1_ENST00000359433.1_Missense_Mutation_p.R126G	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	126					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CCATCGGACAAGAATGGACTG	0.418													75	135					0	0	0	0	G	30756078	A	G	30756078	3	3	372	1	0	0	0	0	1	0	0	0	8730	64	3	5	386	5	LCLAT1	2	30756078	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08		30756078	212443295	21	71752											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48897056	48897056	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaagctgacagtattTcaaatgaggattcagccaca	17	8	9	7	0	2	4	2	2	0	2	2	5	2	5	1	1	2	2	1	1	5	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:48897056T>C	ENST00000394754.1	+	9	3400	c.3286T>C	c.(3286-3288)Tca>Cca	p.S1096P	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S358P|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S1096P|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S1049P|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S1096P|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.S392P|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S1096P	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1049					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGACAGTATTTCAAATGAGGA	0.393													17	56					0	0	0	0	C	48897056	T	C	48897056	3	2	372	1	0	0	0	0	1	0	0	0	15407	1783	62	5	3316	5	STON1-GTF2A1L	2	48897056	Missense_Mutation	SNP	T	TCGA-D6-8569-01A-11D-2394-08	18140978	48897056	194302317	22	71753											
DLX2	1746	broad.mit.edu	37	chr2	172967129	172967131	+	In_Frame_Del	DEL	GCT	GCT	-																															gactcctggggcttgtggagGctgctgctgctgctgctgtt																										TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:172967129_172967131delGCT	ENST00000234198.4	-	1	497_499	c.136_138delAGC	c.(136-138)del	p.S46del	DLX2_ENST00000466293.2_In_Frame_Del_p.S46del	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	46	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCTTGTGGAGgctgctgctgctg	0.739													2	4	---	---	---	---					-	172967131	GCT	-	172967129	7	5	372	1	0	1	0	1	0	0	0	0	4608	1194	42	0	860	0	DLX2	2	172967129	In_Frame_Del	DEL	GCT	TCGA-D6-8569-01A-11D-2394-08	124070073	172967129	70232244	23	71754											
TTN	7273	broad.mit.edu	37	chr2	179434641	179434641	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggttgtttgggggtccTggtttataaataggatcaca	8	15	14	4	0	1	0	1	0	0	0	2	1	2	1	1	6	0	3	1	6	4	7			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:179434641T>C	ENST00000589042.1	-	326	76442	c.76218A>G	c.(76216-76218)ccA>ccG	p.P25406P	TTN_ENST00000591111.1_Silent_p.P23765P|TTN_ENST00000342175.6_Silent_p.P16533P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.P22838P|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.P16466P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P16341P|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23765	Fibronectin type-III 84.						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)			TTGGGGGTCCTGGTTTATAAA	0.423													10	39					0	0	0	0	C	179434641	T	C	179434641	2	2	372	1	0	0	0	0	0	0	0	1	16831	1567	55	5		5	TTN	2	179434641	Silent	SNP	T	TCGA-D6-8569-01A-11D-2394-08	6467512	179434641	63764732	24	71755											
ZNF804A	91752	broad.mit.edu	37	chr2	185803247	185803247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcccactagaaaaccatGacaaattcaaaaatgtacca	19	8	4	10	0	1	3	1	2	0	1	2	3	2	3	3	0	2	1	3	0	7	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:185803247G>T	ENST00000302277.6	+	4	3718	c.3124G>T	c.(3124-3126)Gac>Tac	p.D1042Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1042						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGAAAACCATGACAAATTCAA	0.443													31	74					3.57733e-08	3.88458e-08	1	0	T	185803247	G	T	185803247	3	4	372	1	0	0	0	0	1	0	0	0	18263	1290	45	2	3138	2	ZNF804A	2	185803247	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	6368606	185803247	57396126	25	71756											
ERBB4	2066	broad.mit.edu	37	chr2	212251760	212251760	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggagtcatcaaaaatcTcagcagtagcaccctgtgcc	13	7	9	12	0	3	0	3	0	1	0	4	1	3	1	2	1	4	4	2	1	3	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:212251760T>A	ENST00000342788.4	-	27	3609	c.3299A>T	c.(3298-3300)gAg>gTg	p.E1100V	ERBB4_ENST00000402597.1_Missense_Mutation_p.E1090V|ERBB4_ENST00000436443.1_Missense_Mutation_p.E1084V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1100					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATCAAAAATCTCAGCAGTAGC	0.552										TSP Lung(8;0.080)			33	100					0	0	0	0	A	212251760	T	A	212251760	3	1	372	1	0	0	0	0	1	0	0	0	5247	1551	54	5	635	5	ERBB4	2	212251760	Missense_Mutation	SNP	T	TCGA-D6-8569-01A-11D-2394-08	26448513	212251760	30947613	26	71757											
BARD1	580	broad.mit.edu	37	chr2	215593641	215593641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tactgaggatctggcccccaCctgcagtgacgagcttaata	10	9	10	12	1	1	2	0	2	1	0	1	4	1	3	3	2	3	2	3	2	3	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:215593641C>T	ENST00000260947.4	-	11	2227	c.2093G>A	c.(2092-2094)gGt>gAt	p.G698D	BARD1_ENST00000432456.1_Missense_Mutation_p.G69D|BARD1_ENST00000449967.2_Missense_Mutation_p.V553M	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	698	BRCT 2.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGGCCCCCACCTGCAGTGAC	0.488									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	43					0	0	0	0	T	215593641	C	T	215593641	3	4	372	1	0	0	0	0	1	0	0	0	1316	507	18	4	244	4	BARD1	2	215593641	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	3341881	215593641	27605732	27	71758											
ANKZF1	55139	broad.mit.edu	37	chr2	220099691	220099691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagaaaagccgagacCaggaggctggggcacatcgg	14	2	17	8	2	0	3	0	0	0	3	1	6	0	4	2	6	1	2	2	6	3	0			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:220099691C>A	ENST00000323348.5	+	10	1522	c.1348C>A	c.(1348-1350)Cag>Aag	p.Q450K	ANKZF1_ENST00000409849.1_Missense_Mutation_p.Q240K|ANKZF1_ENST00000410034.3_Missense_Mutation_p.Q450K	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	450						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCCGAGACCAGGAGGCTGG	0.542													9	36					2.17888e-05	2.28202e-05	1	0	A	220099691	C	A	220099691	3	1	372	1	0	0	0	0	1	0	0	0	692	595	21	4	1382	4	ANKZF1	2	220099691	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	4506050	220099691	23099682	28	71759											
SPHKAP	80309	broad.mit.edu	37	chr2	228890246	228890246	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaacgttgaccagtttcTgtaaagcaagaatctttatt	13	14	8	6	1	2	3	0	2	2	1	2	3	2	3	1	0	2	4	1	0	6	6			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:228890246T>A	ENST00000392056.3	-	5	353		c.e5-2		SPHKAP_ENST00000344657.5_Splice_Site	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing							cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACCAGTTTCTGTAAAGCAAG	0.343													19	50					0	0	0	0	A	228890246	T	A	228890246	5	1	372	1	0	0	0	0	0	0	1	0	15138	1594	55	5	4829	5	SPHKAP	2	228890246	Splice_Site	SNP	T	TCGA-D6-8569-01A-11D-2394-08	8790555	228890246	14309127	29	71760											
COL6A3	1293	broad.mit.edu	37	chr2	238253474	238253474	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgttgggaagacggggCactccaggggccctgtggaa	7	8	17	9	1	1	1	0	0	1	1	2	3	2	3	2	6	0	3	2	6	2	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:238253474C>A	ENST00000295550.4	-	36	7639	c.7187G>T	c.(7186-7188)tGc>tTc	p.C2396F	COL6A3_ENST00000347401.3_Missense_Mutation_p.C2195F|COL6A3_ENST00000346358.4_Missense_Mutation_p.C2196F|COL6A3_ENST00000409809.1_Missense_Mutation_p.C2190F|COL6A3_ENST00000472056.1_Missense_Mutation_p.C1789F|COL6A3_ENST00000353578.4_Missense_Mutation_p.C2190F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2396	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAAGACGGGGCACTCCAGGGG	0.498													29	60					1.16021e-09	1.29155e-09	1	0	A	238253474	C	A	238253474	3	1	372	1	0	0	0	0	1	0	0	0	3731	710	25	4	2382	4	COL6A3	2	238253474	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	9363228	238253474	4945899	30	71761											
SLC26A6	65010	broad.mit.edu	37	chr3	48667399	48667399	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatggtggccgtgaaggtcaCcagccagataagctgagaac	12	6	14	9	1	1	3	1	2	0	2	1	5	1	3	3	3	3	1	3	3	3	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:48667399C>G	ENST00000358747.6	-	12	1622	c.1372G>C	c.(1372-1374)Gtg>Ctg	p.V458L	SLC26A6_ENST00000455886.2_Missense_Mutation_p.V443L|SLC26A6_ENST00000337000.8_Missense_Mutation_p.V372L|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V479L|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V479L|SLC26A6_ENST00000395550.2_Missense_Mutation_p.V479L	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GTGAAGGTCACCAGCCAGATA	0.622													4	34					0	0	0	0	G	48667399	C	G	48667399	3	3	372	1	0	0	0	0	1	0	0	0	14609	507	18	4	916	4	SLC26A6	3	48667399	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08		48667399	149355031	31	71762											
ACY1	95	broad.mit.edu	37	chr3	52018113	52018113	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccgaggaggagcacccAtcggtgacgctcttccgcca	7	6	13	15	4	1	1	0	1	1	0	4	4	3	3	4	4	1	2	4	4	0	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:52018113A>T	ENST00000458031.2	+	4	534	c.303A>T	c.(301-303)ccA>ccT	p.P101P	ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000476854.1_Silent_p.P11P|ACY1_ENST00000476351.1_Silent_p.P11P|ACY1_ENST00000494103.1_Silent_p.P11P|ACY1_ENST00000404366.2_Silent_p.P11P			Q03154	ACY1_HUMAN	aminoacylase 1	11					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	AGGAGCACCCATCGGTGACGC	0.612													27	22					0	0	0	0	T	52018113	A	T	52018113	2	4	372	1	0	0	0	0	0	0	0	1	226	204	8	5		5	ACY1	3	52018113	Silent	SNP	A	TCGA-D6-8569-01A-11D-2394-08	3350714	52018113	146004317	32	71763											
CHMP2B	25978	broad.mit.edu	37	chr3	87289861	87289861	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctagatgtaataaaggAacagaatcgagagttacgag	16	9	10	6	2	1	3	0	0	1	3	3	6	1	4	1	1	2	2	1	1	7	4			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:87289861A>T	ENST00000263780.4	+	2	285	c.47A>T	c.(46-48)gAa>gTa	p.E16V	CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000471660.1_Intron|CHMP2B_ENST00000494980.1_Missense_Mutation_p.E16V	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	16					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GTAATAAAGGAACAGAATCGA	0.328													30	36					0	0	0	0	T	87289861	A	T	87289861	3	4	372	1	0	0	0	0	1	0	0	0	3384	246	9	5	53	5	CHMP2B	3	87289861	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08	35271748	87289861	110732569	33	71764											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133117	119133117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaatctgtctcctccaCtcccacctgctcctccccct	5	10	4	22	0	2	0	0	0	2	0	7	0	6	0	7	1	1	2	7	1	1	0			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:119133117C>A	ENST00000264245.4	+	12	2873	c.2341C>A	c.(2341-2343)Ctc>Atc	p.L781I		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	781	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GTCTCCTCCACTCCCACCTGC	0.557													48	72					3.86361e-14	4.52886e-14	1	0	A	119133117	C	A	119133117	3	1	372	1	0	0	0	0	1	0	0	0	882	565	20	4	2387	4	ARHGAP31	3	119133117	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	31843256	119133117	78889313	34	71765											
GTF2E1	2960	broad.mit.edu	37	chr3	120469647	120469647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtagagactgctgcagAcgggaaaaccactcgccata	13	5	13	10	2	0	2	0	0	0	2	1	5	0	3	2	2	3	3	2	2	4	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:120469647A>G	ENST00000283875.5	+	2	341	c.248A>G	c.(247-249)gAc>gGc	p.D83G		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	83	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ACTGCTGCAGACGGGAAAACC	0.393													45	55					0	0	0	0	G	120469647	A	G	120469647	3	3	372	1	0	0	0	0	1	0	0	0	6906	275	10	5	250	5	GTF2E1	3	120469647	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08	1336530	120469647	77552783	35	71766											
PARP14	54625	broad.mit.edu	37	chr3	122420437	122420437	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcctggtgtccccgggAggcctgcagatgctgttggt	5	9	17	10	1	0	1	0	0	0	1	1	3	1	3	4	5	3	3	4	5	1	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:122420437A>T	ENST00000474629.2	+	6	3302	c.3036A>T	c.(3034-3036)ggA>ggT	p.G1012G		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1012	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGTCCCCGGGAGGCCTGCAGA	0.557													6	19					0	0	0	0	T	122420437	A	T	122420437	2	4	372	1	0	0	0	0	0	0	0	1	11529	291	11	5		5	PARP14	3	122420437	Silent	SNP	A	TCGA-D6-8569-01A-11D-2394-08	1950790	122420437	75601993	36	71767											
ROPN1	54763	broad.mit.edu	37	chr3	123689003	123689003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgaacgggatccggggcGacccaccattatggtcacat	9	8	12	12	3	1	1	1	1	0	0	2	3	2	2	3	4	2	1	3	4	2	1	rs140868038		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:123689003G>A	ENST00000184183.4	-	6	798	c.458C>T	c.(457-459)tCg>tTg	p.S153L	ROPN1_ENST00000405845.3_Missense_Mutation_p.S153L	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	153					signal transduction		cAMP-dependent protein kinase regulator activity	p.S153L(1)		lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		GATCCGGGGCGACCCACCATT	0.433													8	90					0	0	0	0	A	123689003	G	A	123689003	3	1	372	1	0	0	0	0	1	0	0	0	13608	1059	37	1	188	1	ROPN1	3	123689003	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	1268566	123689003	74333427	37	71768											
KBTBD12	166348	broad.mit.edu	37	chr3	127642128	127642128	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaagggaagtcatactttAtgacatcacagcagaaagtg	16	9	9	7	0	3	2	3	1	0	1	3	3	3	3	0	1	2	1	0	1	5	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:127642128A>T	ENST00000405109.1	+	2	691	c.224A>T	c.(223-225)tAt>tTt	p.Y75F	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.Y75F			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	75	BTB.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GTCATACTTTATGACATCACA	0.413													53	39					0	0	0	0	T	127642128	A	T	127642128	3	4	372	1	0	0	0	0	1	0	0	0	8044	449	16	5	226	5	KBTBD12	3	127642128	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08	3953125	127642128	70380302	38	71769											
TRPC1	7220	broad.mit.edu	37	chr3	142499867	142499867	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctatcaaatataaccagaAagaggtatgaggctttctgt	14	12	9	6	0	2	3	1	1	1	2	2	3	2	3	1	2	2	3	1	2	6	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:142499867A>C	ENST00000273482.6	+	5	1245	c.854A>C	c.(853-855)aAa>aCa	p.K285T	TRPC1_ENST00000476941.1_Missense_Mutation_p.K319T	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	319					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TATAACCAGAAAGAGGTATGA	0.368													5	64					0	0	0	0	C	142499867	A	C	142499867	3	2	372	1	0	0	0	0	1	0	0	0	16673	14	1	5	872	5	TRPC1	3	142499867	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08	14857739	142499867	55522563	39	71770											
LPP	4026	broad.mit.edu	37	chr3	188477995	188478003	+	In_Frame_Del	DEL	CATCTGCAA	CATCTGCAA	-																															gtggattgttttacctgcatCatctgcaacaacaagctccg																										TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:188477995_188478003delCATCTGCAA	ENST00000312675.4	+	8	1581_1589	c.1335_1343delCATCTGCAA	c.(1333-1344)atc>at	p.IICN445del	LPP_ENST00000543006.1_In_Frame_Del_p.IICN445del	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	445	LIM zinc-binding 1.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TTACCTGCATCATCTGCAACAACAAGCTC	0.502			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								22	77	---	---	---	---					-	188478003	CATCTGCAA	-	188477995	7	5	372	1	0	1	0	1	0	0	0	0	8987	816	29	0	1357	0	LPP	3	188477995	In_Frame_Del	DEL	CATCTGCAA	TCGA-D6-8569-01A-11D-2394-08	45978128	188477995	9544435	40	71771											
GAK	2580	broad.mit.edu	37	chr4	906521	906521	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggttccaggaaaaggatAccatgaagcaaacttcttga	14	9	9	9	0	1	2	0	2	1	0	2	4	2	4	3	3	3	2	3	3	5	4			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:906521A>G	ENST00000314167.4	-	3	378		c.e3+1		GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase						cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGAAAAGGATACCATGAAGCA	0.507													16	53					0	0	0	0	G	906521	A	G	906521	5	3	372	1	0	0	0	0	0	0	1	0	6244	405	14	5	3770	5	GAK	4	906521	Splice_Site	SNP	A	TCGA-D6-8569-01A-11D-2394-08		906521	190247755	41	71772											
FGFBP2	83888	broad.mit.edu	37	chr4	15964361	15964361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgggctgcccttgaggctgGaagtcacctgctgcatatgg	6	10	14	11	0	1	1	1	1	0	0	1	2	1	2	2	4	3	4	2	4	2	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:15964361G>A	ENST00000259989.6	-	1	498	c.392C>T	c.(391-393)tCc>tTc	p.S131F	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	131						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTTGAGGCTGGAAGTCACCTG	0.647													26	64					0	0	0	0	A	15964361	G	A	15964361	3	1	372	1	0	0	0	0	1	0	0	0	5906	1174	41	2	283	2	FGFBP2	4	15964361	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	15057840	15964361	175189915	42	71773											
PPAT	5471	broad.mit.edu	37	chr4	57301515	57301515	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacccccaccctgttgctcaCcggtgctgcagccccacgag	6	6	9	20	2	1	0	1	0	0	0	1	1	1	0	6	1	4	4	6	1	0	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:57301515C>A	ENST00000264220.2	-	1	266		c.e1+1			NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase						glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	CTGTTGCTCACCGGTGCTGCA	0.677													27	56					1.99505e-19	2.41866e-19	1	0	A	57301515	C	A	57301515	5	1	372	1	0	0	0	0	0	0	1	0	12373	521	18	4	1468	4	PPAT	4	57301515	Splice_Site	SNP	C	TCGA-D6-8569-01A-11D-2394-08	41337154	57301515	133852761	43	71774											
SEPT11	55752	broad.mit.edu	37	chr4	77936159	77936159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacggtggcagagattaacGcaacaatgagtgtaagtcct	15	8	11	7	2	0	2	0	1	0	1	1	3	1	2	1	2	3	3	1	2	5	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:77936159G>A	ENST00000264893.6	+	5	877	c.676G>A	c.(676-678)Gca>Aca	p.A226T	SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000505788.1_Missense_Mutation_p.A226T|SEPT11_ENST00000541121.1_Missense_Mutation_p.A236T|SEPT11_ENST00000502584.1_Missense_Mutation_p.A226T|SEPT11_ENST00000510515.1_Missense_Mutation_p.A236T	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	226					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	p.A226T(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						AGAGATTAACGCAACAATGAG	0.438													18	79					0	0	0	0	A	77936159	G	A	77936159	3	1	372	1	0	0	0	0	1	0	0	0	14148	1087	38	1	694	1	SEPT11	4	77936159	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	20634644	77936159	113218117	44	71775											
FRAS1	80144	broad.mit.edu	37	chr4	79284755	79284755	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaatgcccactacctgctGctcggggaccactgtgttcc	7	9	10	15	1	0	1	0	0	0	1	2	2	1	2	4	2	4	3	4	2	2	2	rs147300670	by1000genomes	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:79284755G>T	ENST00000264895.6	+	21	2951	c.2511G>T	c.(2509-2511)ctG>ctT	p.L837L	FRAS1_ENST00000325942.6_Silent_p.L837L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	837					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTACCTGCTGCTCGGGGACC	0.567													5	14					0.014758	0.0148418	1	0	T	79284755	G	T	79284755	2	4	372	1	0	0	0	0	0	0	0	1	6089	1306	46	4		4	FRAS1	4	79284755	Silent	SNP	G	TCGA-D6-8569-01A-11D-2394-08	1348596	79284755	111869521	45	71776											
GRID2	2895	broad.mit.edu	37	chr4	94411877	94411877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgttatctcatcttacaCggcaaacctcgctgctttcc	8	14	6	13	2	2	0	1	0	2	0	5	1	3	0	2	1	3	4	2	1	3	4	rs150683134		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:94411877C>T	ENST00000282020.4	+	12	2204	c.1946C>T	c.(1945-1947)aCg>aTg	p.T649M	GRID2_ENST00000510992.1_Missense_Mutation_p.T554M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	649					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCATCTTACACGGCAAACCTC	0.438													33	62					0	0	0	0	T	94411877	C	T	94411877	3	4	372	1	0	0	0	0	1	0	0	0	6822	536	19	1	1992	1	GRID2	4	94411877	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	15127122	94411877	96742399	46	71777											
EMCN	51705	broad.mit.edu	37	chr4	101337095	101337095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaacggtaagaagcttcacGctctctttatcagactgagg	11	12	9	9	2	3	3	2	1	1	2	4	3	3	3	0	2	2	3	0	2	4	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:101337095G>A	ENST00000296420.4	-	10	889	c.711C>T	c.(709-711)agC>agT	p.S237S	EMCN_ENST00000511970.1_Silent_p.S224S|EMCN_ENST00000305864.3_Silent_p.S154S	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	237						extracellular region|integral to membrane|plasma membrane		p.S237S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		GAAGCTTCACGCTCTCTTTAT	0.323													6	18					0	0	0	0	A	101337095	G	A	101337095	2	1	372	1	0	0	0	0	0	0	0	1	5124	1078	38	1		1	EMCN	4	101337095	Silent	SNP	G	TCGA-D6-8569-01A-11D-2394-08	6925218	101337095	89817181	47	71778											
ARFIP1	27236	broad.mit.edu	37	chr4	153784811	153784811	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagaaacccaaattacAtctcatggctttgacaatac	14	11	4	12	0	2	2	2	1	2	1	4	2	2	2	1	1	3	1	1	1	5	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:153784811A>G	ENST00000451320.2	+	3	311	c.147A>G	c.(145-147)acA>acG	p.T49T	ARFIP1_ENST00000405727.2_Silent_p.T49T|ARFIP1_ENST00000353617.2_Silent_p.T49T|ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000356064.3_Silent_p.T49T|ARFIP1_ENST00000511289.1_3'UTR			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	49					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					CCCAAATTACATCTCATGGCT	0.373													23	47					0	0	0	0	G	153784811	A	G	153784811	2	3	372	1	0	0	0	0	0	0	0	1	856	204	8	5		5	ARFIP1	4	153784811	Silent	SNP	A	TCGA-D6-8569-01A-11D-2394-08	52447716	153784811	37369465	48	71779											
NPY2R	4887	broad.mit.edu	37	chr4	156135310	156135310	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaactccttggtgatccaTgtggtgatcaaattcaagag	11	11	11	8	0	2	3	2	2	0	1	4	3	4	3	2	3	1	1	2	3	3	2	rs138139550		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:156135310T>A	ENST00000329476.3	+	2	708	c.219T>A	c.(217-219)caT>caA	p.H73Q	NPY2R_ENST00000506608.1_Missense_Mutation_p.H73Q	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	73					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGGTGATCCATGTGGTGATCA	0.438													5	38					0	0	0	0	A	156135310	T	A	156135310	3	1	372	1	0	0	0	0	1	0	0	0	10680	1461	51	5	221	5	NPY2R	4	156135310	Missense_Mutation	SNP	T	TCGA-D6-8569-01A-11D-2394-08	2350499	156135310	35018966	49	71780											
MAP9	79884	broad.mit.edu	37	chr4	156294557	156294557	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgaaagtcattcatttttTtattaactgaattttcatct	12	21	3	5	0	4	2	3	2	1	0	4	2	4	2	0	0	1	0	0	0	5	9			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:156294557T>C	ENST00000311277.4	-	4	475	c.212A>G	c.(211-213)aAa>aGa	p.K71R	AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K71R|MAP9_ENST00000379248.2_5'UTR	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	71					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		ATTCATTTTTTTATTAACTGA	0.254													8	13					0	0	0	0	C	156294557	T	C	156294557	3	2	372	1	0	0	0	0	1	0	0	0	9339	1841	64	5	1775	5	MAP9	4	156294557	Missense_Mutation	SNP	T	TCGA-D6-8569-01A-11D-2394-08	159247	156294557	34859719	50	71781											
FSTL5	56884	broad.mit.edu	37	chr4	162307341	162307341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaggtagtggccatctGgagagacatatggagtgccc	11	8	14	8	0	1	2	0	1	1	1	1	5	1	4	2	4	1	1	2	4	3	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:162307341G>T	ENST00000306100.5	-	16	2538	c.2102C>A	c.(2101-2103)cCa>cAa	p.P701Q	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.P700Q|FSTL5_ENST00000427802.2_Missense_Mutation_p.P691Q|FSTL5_ENST00000379164.4_Missense_Mutation_p.P700Q	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	701						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTGGCCATCTGGAGAGACATA	0.468													29	46					1.68575e-08	1.85328e-08	1	0	T	162307341	G	T	162307341	3	4	372	1	0	0	0	0	1	0	0	0	6128	1348	47	4	445	4	FSTL5	4	162307341	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	6012784	162307341	28846935	51	71782											
WDR17	116966	broad.mit.edu	37	chr4	177032852	177032852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggctatctatatttatCaggtaaaataataattcttt	13	17	4	7	0	3	0	1	0	2	0	3	0	3	0	1	2	0	2	1	2	8	10			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:177032852C>A	ENST00000393643.2	+	2	373	c.121C>A	c.(121-123)Cag>Aag	p.Q41K	WDR17_ENST00000508596.1_Missense_Mutation_p.Q41K|WDR17_ENST00000280190.4_Missense_Mutation_p.Q65K|WDR17_ENST00000507824.2_Missense_Mutation_p.Q65K	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	65										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTATATTTATCAGGTAAAATA	0.343													9	28					2.74318e-10	3.13253e-10	1	0	A	177032852	C	A	177032852	3	1	372	1	0	0	0	0	1	0	0	0	17373	827	29	2	199	2	WDR17	4	177032852	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	14725511	177032852	14121424	52	71783											
SPATA4	132851	broad.mit.edu	37	chr4	177113916	177113916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctttaatagacttcgaaaCtgtagacctggaaaccaggg	14	10	9	8	1	1	2	0	0	1	2	2	4	1	3	2	2	2	1	2	2	5	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:177113916C>A	ENST00000515234.1	-	3	1626	c.31G>T	c.(31-33)Gtt>Ttt	p.V11F	SPATA4_ENST00000280191.2_Missense_Mutation_p.V184F			Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	184					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GACTTCGAAACTGTAGACCTG	0.363													15	30					0.000308642	0.000315778	1	0	A	177113916	C	A	177113916	3	1	372	1	0	0	0	0	1	0	0	0	15100	565	20	4	379	4	SPATA4	4	177113916	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	81064	177113916	14040360	53	71784											
RNF180	285671	broad.mit.edu	37	chr5	63509890	63509890	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactttattacccactttatAtgaaatacatagtaagacta	16	14	4	7	0	0	2	0	1	0	1	0	3	0	2	1	0	2	1	1	0	9	10			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:63509890A>T	ENST00000389100.4	+	4	809	c.737A>T	c.(736-738)tAt>tTt	p.Y246F	RNF180_ENST00000296615.6_Missense_Mutation_p.Y246F|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	246						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CCCACTTTATATGAAATACAT	0.373													26	76					0	0	0	0	T	63509890	A	T	63509890	3	4	372	1	0	0	0	0	1	0	0	0	13549	449	16	5	747	5	RNF180	5	63509890	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08		63509890	117405370	54	71785											
THBS4	7060	broad.mit.edu	37	chr5	79372810	79372810	+	Silent	SNP	G	G	A																															aatgatggtatcccagacctGgtgccccctggaccagacaa																										TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:79372810G>A	ENST00000350881.2	+	16	2215	c.2025G>A	c.(2023-2025)ctG>ctA	p.L675L	THBS4_ENST00000511733.1_Silent_p.L584L|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	675					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TCCCAGACCTGGTGCCCCCTG	0.582													69	159					0	0	0	0	A	79372810	G	A	79372810	2	1	372	1	0	0	0	0	0	0	0	1	15950	1335	47	4		4	THBS4	5	79372810	Silent	SNP	G	TCGA-D6-8569-01A-11D-2394-08	15862920	79372810	101542450	55	71786	983	2									
THBS4	7060	broad.mit.edu	37	chr5	79372811	79372811	+	Missense_Mutation	SNP	G	G	A																															atgatggtatcccagacctgGtgccccctggaccagacaac																										TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:79372811G>A	ENST00000350881.2	+	16	2216	c.2026G>A	c.(2026-2028)Gtg>Atg	p.V676M	THBS4_ENST00000511733.1_Missense_Mutation_p.V585M|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	676					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CCCAGACCTGGTGCCCCCTGG	0.587													66	154					0	0	0	0	A	79372811	G	A	79372811	3	1	372	1	0	0	0	0	1	0	0	0	15950	1261	44	4	2088	4	THBS4	5	79372811	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	1	79372811	101542449	56	71787	983	2									
FAM172A	83989	broad.mit.edu	37	chr5	93120106	93120106	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctctctcatccattctcGaatcgttttgccagcttctt	6	16	4	15	2	4	0	1	0	3	0	8	1	5	0	3	0	2	2	3	0	1	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:93120106G>A	ENST00000395965.3	-	9	1148	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	FAM172A_ENST00000505869.1_Nonsense_Mutation_p.R226*|FAM172A_ENST00000509739.1_Nonsense_Mutation_p.R189*|FAM172A_ENST00000509163.1_Nonsense_Mutation_p.R290*	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	336						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						ATCCATTCTCGAATCGTTTTG	0.448													15	89					0	0	0	0	A	93120106	G	A	93120106	4	1	372	1	0	0	0	0	0	1	0	0	5533	1066	37	1	256	1	FAM172A	5	93120106	Nonsense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	13747295	93120106	87795154	57	71788											
TTC37	9652	broad.mit.edu	37	chr5	94833132	94833132	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactttacctttgcatttcgTtgagcatactgtgcaacaac	10	15	6	10	1	0	1	0	1	0	0	1	1	0	1	1	0	8	4	1	0	5	7			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:94833132T>C	ENST00000358746.2	-	34	3922	c.3624A>G	c.(3622-3624)caA>caG	p.Q1208Q		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1208							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTGCATTTCGTTGAGCATACT	0.368													11	22					0	0	0	0	C	94833132	T	C	94833132	2	2	372	1	0	0	0	0	0	0	0	1	16801	1722	60	5		5	TTC37	5	94833132	Silent	SNP	T	TCGA-D6-8569-01A-11D-2394-08	1713026	94833132	86082128	58	71789											
NSD1	64324	broad.mit.edu	37	chr5	176631153	176631153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctatcggcagtactacGtggaggcttttggagatcct	7	11	13	10	2	0	1	0	0	0	1	2	3	1	2	2	5	2	3	2	5	3	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:176631153G>T	ENST00000439151.2	+	4	1141	c.1096G>T	c.(1096-1098)Gtg>Ttg	p.V366L	NSD1_ENST00000347982.4_Missense_Mutation_p.V97L|NSD1_ENST00000354179.4_Missense_Mutation_p.V97L|NSD1_ENST00000361032.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	366	PWWP 1.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCAGTACTACGTGGAGGCTTT	0.458			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			44	114					8.86878e-18	1.05354e-17	1	0	T	176631153	G	T	176631153	3	4	372	1	0	0	0	0	1	0	0	0	10740	1145	40	3	1106	3	NSD1	5	176631153	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	81798021	176631153	4284107	59	71790											
HIST1H3B	8358	broad.mit.edu	37	chr6	26032097	26032097	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggcgctggaacggcagcttCcgaatcagcaactcggtcga	10	6	13	12	5	1	0	1	0	0	0	4	3	2	1	1	4	4	4	1	4	3	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:26032097C>T	ENST00000244661.2	-	1	191	c.192G>A	c.(190-192)cgG>cgA	p.R64R		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	64					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						ACGGCAGCTTCCGAATCAGCA	0.622													15	111					0	0	0	0	T	26032097	C	T	26032097	2	4	372	1	0	0	0	0	0	0	0	1	7206	842	30	2		2	HIST1H3B	6	26032097	Silent	SNP	C	TCGA-D6-8569-01A-11D-2394-08		26032097	145082970	60	71791											
BAI3	577	broad.mit.edu	37	chr6	70049284	70049284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctttgacgtggatgtctgCggttctggccatgacagata	7	12	14	8	2	2	3	0	2	2	1	2	4	2	4	1	4	1	2	1	4	1	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:70049284C>A	ENST00000370598.1	+	26	4168	c.3347C>A	c.(3346-3348)gCg>gAg	p.A1116E	BAI3_ENST00000238918.8_Missense_Mutation_p.A322E|BAI3_ENST00000546190.1_Missense_Mutation_p.A80E	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1116					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGATGTCTGCGGTTCTGGCC	0.443													55	104					2.14255e-21	2.63355e-21	1	0	A	70049284	C	A	70049284	3	1	372	1	0	0	0	0	1	0	0	0	1304	768	27	3	3441	3	BAI3	6	70049284	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	44017187	70049284	101065783	61	71792											
EPHA7	2045	broad.mit.edu	37	chr6	93955066	93955066	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattgtagccagctgccgtGaaattatctttatatctttc	10	16	7	8	1	2	1	0	1	2	0	3	2	2	1	2	0	3	2	2	0	6	7			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:93955066G>A	ENST00000369303.4	-	16	3016	c.2832C>T	c.(2830-2832)ttC>ttT	p.F944F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	944	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAGCTGCCGTGAAATTATCTT	0.358													13	40					0	0	0	0	A	93955066	G	A	93955066	2	1	372	1	0	0	0	0	0	0	0	1	5210	1281	45	2		2	EPHA7	6	93955066	Silent	SNP	G	TCGA-D6-8569-01A-11D-2394-08	23905782	93955066	77160001	62	71793											
EPHA7	2045	broad.mit.edu	37	chr6	93956664	93956664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccagctgggcagtccatggGtgctggtaaacgataacctt	9	9	13	10	1	0	0	0	0	0	0	1	1	1	0	3	3	4	4	3	3	3	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:93956664G>A	ENST00000369303.4	-	15	2756	c.2572C>T	c.(2572-2574)Ccc>Tcc	p.P858S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	858	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAGTCCATGGGTGCTGGTAAA	0.378													16	28					0	0	0	0	A	93956664	G	A	93956664	3	1	372	1	0	0	0	0	1	0	0	0	5210	1261	44	4	436	4	EPHA7	6	93956664	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	1598	93956664	77158403	63	71794											
GRIK2	2898	broad.mit.edu	37	chr6	102247631	102247631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatcgacataaaccctggCgcttcgggacccgctttatg	9	10	10	12	4	0	0	0	0	0	0	2	2	0	1	2	2	1	3	2	2	4	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:102247631C>T	ENST00000369138.1	+	7	1550	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	GRIK2_ENST00000421544.1_Missense_Mutation_p.R354C|GRIK2_ENST00000413795.1_Missense_Mutation_p.R354C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R354C|GRIK2_ENST00000318991.6_Missense_Mutation_p.R354C|GRIK2_ENST00000369134.4_Missense_Mutation_p.R305C	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	354					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R354C(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TAAACCCTGGCGCTTCGGGAC	0.443													26	49					0	0	0	0	T	102247631	C	T	102247631	3	4	372	1	0	0	0	0	1	0	0	0	6824	768	27	1	1086	1	GRIK2	6	102247631	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	8290967	102247631	68867436	64	71795											
TAAR1	134864	broad.mit.edu	37	chr6	132966722	132966723	+	Frame_Shift_Del	DEL	AA	AA	-																															actaatgaagatcatcacacAaataaccaagatattcatct																										TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:132966722_132966723delAA	ENST00000275216.1	-	1	419_420	c.420_421delTT	c.(418-423)atgtfs	p.IC140fs		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	140						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	ATCATCACACAAATAACCAAGA	0.396													23	50	---	---	---	---					-	132966723	AA	-	132966722	7	5	372	1	0	1	0	1	0	0	0	0	15580	130	5	0	602	0	TAAR1	6	132966722	Frame_Shift_Del	DEL	AA	TCGA-D6-8569-01A-11D-2394-08	30719091	132966722	38148345	65	71796											
PSMB1	5689	broad.mit.edu	37	chr6	170855255	170855255	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgaaaaccgctgcatccaAtgactgttttgtctgttctg	9	14	8	10	1	2	2	0	2	2	0	3	2	3	2	2	0	2	4	2	0	3	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:170855255A>G	ENST00000262193.6	-	3	337	c.239T>C	c.(238-240)aTt>aCt	p.I80T	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	80					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	GCTGCATCCAATGACTGTTTT	0.333													5	22					0	0	0	0	G	170855255	A	G	170855255	3	3	372	1	0	0	0	0	1	0	0	0	12753	101	4	5	502	5	PSMB1	6	170855255	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08	37888533	170855255	259812	66	71797											
SEMA3A	10371	broad.mit.edu	37	chr7	83640336	83640336	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtagttaaaaagttacttAcctggaagtcgtaaacactc	15	11	8	7	1	0	0	0	0	0	0	2	1	0	1	1	2	3	4	1	2	9	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr7:83640336A>G	ENST00000265362.3	-	9	1310		c.e9+1		SEMA3A_ENST00000436949.1_Splice_Site	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AAAGTTACTTACCTGGAAGTC	0.303													12	37					0	0	0	0	G	83640336	A	G	83640336	5	3	372	1	0	0	0	0	0	0	1	0	14111	405	14	5	1354	5	SEMA3A	7	83640336	Splice_Site	SNP	A	TCGA-D6-8569-01A-11D-2394-08		83640336	75498327	67	71798											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138758754	138758754	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcattacccgaaaattgaTtgtataacttcctacagaac	15	12	4	10	1	1	2	1	1	0	1	2	3	2	2	2	0	4	1	2	0	7	7	rs150148096	by1000genomes	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr7:138758754T>C	ENST00000242351.5	-	7	2036	c.1720A>G	c.(1720-1722)Atc>Gtc	p.I574V	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.I574V|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.I696V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	574					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CGAAAATTGATTGTATAACTT	0.423													22	59					0	0	0	0	C	138758754	T	C	138758754	3	2	372	1	0	0	0	0	1	0	0	0	17670	1493	52	5	1020	5	ZC3HAV1	7	138758754	Missense_Mutation	SNP	T	TCGA-D6-8569-01A-11D-2394-08	55118418	138758754	20379909	68	71799											
AGK	55750	broad.mit.edu	37	chr7	141333736	141333736	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgtatttgcaatgaccggCcttcgatggggatctttcag	7	13	11	10	2	2	1	1	1	1	0	3	3	2	2	3	3	1	2	3	3	2	4			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr7:141333736C>T	ENST00000355413.4	+	10	884	c.624C>T	c.(622-624)ggC>ggT	p.G208G	AGK_ENST00000473247.1_Silent_p.G180G|AGK_ENST00000535825.1_Silent_p.G205G	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	208					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CAATGACCGGCCTTCGATGGG	0.358													45	115					0	0	0	0	T	141333736	C	T	141333736	2	4	372	1	0	0	0	0	0	0	0	1	383	726	26	4		4	AGK	7	141333736	Silent	SNP	C	TCGA-D6-8569-01A-11D-2394-08	2574982	141333736	17804927	69	71800											
TNKS	8658	broad.mit.edu	37	chr8	9627666	9627666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaatcctttctgcagtttaGcaccatgaaaatggcccacg	12	10	8	11	1	1	1	0	1	1	0	2	2	2	1	3	1	2	3	3	1	4	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr8:9627666G>A	ENST00000310430.6	+	26	3817	c.3791G>A	c.(3790-3792)aGc>aAc	p.S1264N	TNKS_ENST00000518281.1_Missense_Mutation_p.S1027N	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1264	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CTGCAGTTTAGCACCATGAAA	0.448													29	38					0	0	0	0	A	9627666	G	A	9627666	3	1	372	1	0	0	0	0	1	0	0	0	16413	971	34	4	3893	4	TNKS	8	9627666	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08		9627666	136736356	70	71801											
HOOK3	84376	broad.mit.edu	37	chr8	42868541	42868541	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttagtgcctggtacaatAtggtaagaaaatagtacttt	13	15	9	4	0	0	1	0	0	0	1	0	1	0	1	1	2	3	4	1	2	9	8			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr8:42868541A>G	ENST00000307602.4	+	21	2214	c.2014A>G	c.(2014-2016)Atg>Gtg	p.M672V		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	672	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CTGGTACAATATGGTAAGAAA	0.289			T	RET	papillary thyroid								36	59					0	0	0	0	G	42868541	A	G	42868541	3	3	372	1	0	0	0	0	1	0	0	0	7334	449	16	5	2096	5	HOOK3	8	42868541	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08	33240875	42868541	103495481	71	71802											
CA3	761	broad.mit.edu	37	chr8	86358382	86358382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccagggcaaggaggcGcccttcacaaagtttgaccc	10	7	10	14	1	1	1	1	1	0	0	1	2	1	2	3	3	1	2	3	3	3	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr8:86358382G>A	ENST00000285381.2	+	6	602	c.519G>A	c.(517-519)gcG>gcA	p.A173A	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	173					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	p.A173A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCAAGGAGGCGCCCTTCACAA	0.577													9	21					0	0	0	0	A	86358382	G	A	86358382	2	1	372	1	0	0	0	0	0	0	0	1	2542	1074	38	1		1	CA3	8	86358382	Silent	SNP	G	TCGA-D6-8569-01A-11D-2394-08	43489841	86358382	60005640	72	71803											
CSMD3	114788	broad.mit.edu	37	chr8	113563056	113563056	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggaccgtcccagactcGgagtatatcatgtgatgctt	8	12	12	9	2	1	2	1	1	0	1	3	4	2	4	2	3	1	2	2	3	2	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr8:113563056G>A	ENST00000297405.5	-	27	4652	c.4408C>T	c.(4408-4410)Cga>Tga	p.R1470*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R1430*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R1470*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R1366*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1470	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCCAGACTCGGAGTATATCA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	43					0	0	0	0	A	113563056	G	A	113563056	4	1	372	1	0	0	0	0	0	1	0	0	3978	1124	39	1	6895	1	CSMD3	8	113563056	Nonsense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	27204674	113563056	32800966	73	71804											
FAM135B	51059	broad.mit.edu	37	chr8	139164068	139164068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttcaagtgctatgacgcGtggtatttttaaattaagac	11	16	9	5	2	1	2	1	1	0	1	1	2	1	2	0	1	1	3	0	1	6	8	rs148073315	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr8:139164068G>A	ENST00000395297.1	-	13	2820	c.2650C>T	c.(2650-2652)Cgc>Tgc	p.R884C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	884								p.R884C(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCTATGACGCGTGGTATTTTT	0.468										HNSCC(54;0.14)			17	77					0	0	0	0	A	139164068	G	A	139164068	3	1	372	1	0	0	0	0	1	0	0	0	5490	1145	40	1	1602	1	FAM135B	8	139164068	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	25601012	139164068	7199954	74	71805											
DMRT3	58524	broad.mit.edu	37	chr9	990875	990875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccttcctgcccgcgccaCggaagaccctcggatttcca	6	8	9	18	5	0	1	0	0	0	1	4	3	3	3	6	2	1	0	6	2	1	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:990875C>T	ENST00000190165.2	+	2	1327	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	430					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GCCCGCGCCACGGAAGACCCT	0.552													17	26					0	0	0	0	T	990875	C	T	990875	3	4	372	1	0	0	0	0	1	0	0	0	4624	536	19	1	1295	1	DMRT3	9	990875	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08		990875	140222556	75	71806											
KIAA1045	23349	broad.mit.edu	37	chr9	34976163	34976163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaggacaacatcaacttGctgcttactgaggaggaaat	13	11	9	8	0	2	1	2	1	0	0	2	4	2	4	0	3	5	2	0	3	4	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:34976163G>T	ENST00000242315.3	+	4	661	c.579G>T	c.(577-579)ttG>ttT	p.L193F	KIAA1045_ENST00000544237.1_Missense_Mutation_p.L193F|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	193							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			ACATCAACTTGCTGCTTACTG	0.502													10	26					0.00829132	0.00838608	1	0	T	34976163	G	T	34976163	3	4	372	1	0	0	0	0	1	0	0	0	8258	1310	46	4	589	4	KIAA1045	9	34976163	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	33985288	34976163	106237268	76	71807											
HEMGN	55363	broad.mit.edu	37	chr9	100693459	100693459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgtctctttctgcctcttCgatttccttttcctgttctc	1	22	5	13	1	4	0	0	0	4	0	9	1	6	0	3	0	1	2	3	0	0	7			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:100693459C>T	ENST00000259456.3	-	4	361	c.218G>A	c.(217-219)cGa>cAa	p.R73Q		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	73	Necessary for nuclear localization.				cell differentiation|multicellular organismal development			p.R73Q(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCTGCCTCTTCGATTTCCTTT	0.413													18	61					0	0	0	0	T	100693459	C	T	100693459	3	4	372	1	0	0	0	0	1	0	0	0	7100	884	31	1	1244	1	HEMGN	9	100693459	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	65717296	100693459	40519972	77	71808											
OR5C1	392391	broad.mit.edu	37	chr9	125551587	125551587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagccatggcctatgacCgctacgtggccatcagaaac	10	7	11	13	2	1	2	1	1	0	1	1	2	1	2	4	3	3	2	4	3	3	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:125551587C>T	ENST00000373680.2	+	1	438	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GGCCTATGACCGCTACGTGGC	0.572													23	123					0	0	0	0	T	125551587	C	T	125551587	3	4	372	1	0	0	0	0	1	0	0	0	11224	652	23	1	378	1	OR5C1	9	125551587	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	24858128	125551587	15661844	78	71809											
RC3H2	54542	broad.mit.edu	37	chr9	125627747	125627747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtactacgtgagattagCtgggaaacactgttttctgc	10	13	10	8	1	2	1	1	1	1	1	2	3	2	2	0	1	5	3	0	1	4	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:125627747C>T	ENST00000373665.2	-	11	1673	c.1433G>A	c.(1432-1434)aGc>aAc	p.S478N	RC3H2_ENST00000423239.2_Silent_p.Q505Q|RC3H2_ENST00000357244.2_Silent_p.Q505Q|RC3H2_ENST00000373670.1_Silent_p.Q505Q			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	0						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GTGAGATTAGCTGGGAAACAC	0.453													29	93					0	0	0	0	T	125627747	C	T	125627747	3	4	372	1	0	0	0	0	1	0	0	0	13249	796	28	4	2186	4	RC3H2	9	125627747	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	76160	125627747	15585684	79	71810											
CRB2	286204	broad.mit.edu	37	chr9	126134519	126134519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgacttccactgtacctgcCctgccaatttcacggggcct	7	11	8	15	1	1	1	1	1	0	0	2	1	2	1	5	2	3	1	5	2	2	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:126134519C>T	ENST00000373631.3	+	9	2501	c.2500C>T	c.(2500-2502)Cct>Tct	p.P834S	CRB2_ENST00000373629.2_Missense_Mutation_p.P502S|CRB2_ENST00000359999.3_Missense_Mutation_p.P834S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	834	EGF-like 11.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGTACCTGCCCTGCCAATTT	0.622													23	50					0	0	0	0	T	126134519	C	T	126134519	3	4	372	1	0	0	0	0	1	0	0	0	3879	623	22	4	2534	4	CRB2	9	126134519	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	506772	126134519	15078912	80	71811											
ABCA2	20	broad.mit.edu	37	chr9	139904658	139904658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccacctgtgtccattgaCgaaggcctcgccccccgtcg	5	7	10	19	4	0	1	0	1	0	0	3	2	1	1	8	1	0	0	8	1	1	1	rs150403388	by1000genomes	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:139904658C>T	ENST00000265662.5	-	41	6487	c.6340G>A	c.(6340-6342)Gtc>Atc	p.V2114I	ABCA2_ENST00000371605.3_Missense_Mutation_p.V2113I|ABCA2_ENST00000341511.6_Missense_Mutation_p.V2114I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2113	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGTCCATTGACGAAGGCCTCG	0.701													3	15					0	0	0	0	T	139904658	C	T	139904658	3	4	372	1	0	0	0	0	1	0	0	0	32	536	19	1	1006	1	ABCA2	9	139904658	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	13770139	139904658	1308773	81	71812											
PARD3	56288	broad.mit.edu	37	chr10	34558645	34558645	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcatacaaagcatccAtcatatgcccttctcgtggg	9	11	9	12	1	2	0	1	0	1	0	4	0	3	0	2	2	3	2	2	2	3	4			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:34558645A>G	ENST00000374789.3	-	22	3693	c.3368T>C	c.(3367-3369)aTg>aCg	p.M1123T	PARD3_ENST00000545693.1_Missense_Mutation_p.M1107T|PARD3_ENST00000545260.1_Missense_Mutation_p.M1033T|PARD3_ENST00000374790.3_Missense_Mutation_p.M1063T|PARD3_ENST00000374794.3_Missense_Mutation_p.M1011T|PARD3_ENST00000374788.3_Missense_Mutation_p.M1120T|PARD3_ENST00000350537.4_Missense_Mutation_p.M1077T|PARD3_ENST00000346874.4_Missense_Mutation_p.M1086T	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1123					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CAAAGCATCCATCATATGCCC	0.498													15	46					0	0	0	0	G	34558645	A	G	34558645	3	3	372	1	0	0	0	0	1	0	0	0	11514	217	8	5	718	5	PARD3	10	34558645	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08		34558645	100976102	82	71813											
PCDH15	65217	broad.mit.edu	37	chr10	56089401	56089401	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagtcttatcttcatagttGagcctcttccttaacactat	9	16	5	11	1	4	1	1	1	3	0	5	2	5	1	2	0	2	1	2	0	4	7			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:56089401G>A	ENST00000373965.2	-	7	1054	c.660C>T	c.(658-660)ctC>ctT	p.L220L	PCDH15_ENST00000395438.1_Silent_p.L220L|PCDH15_ENST00000361849.3_Silent_p.L220L|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000437009.1_Silent_p.L220L|PCDH15_ENST00000395433.1_Silent_p.L198L|PCDH15_ENST00000414778.1_Silent_p.L225L|PCDH15_ENST00000373955.1_Silent_p.L220L|PCDH15_ENST00000395442.1_Silent_p.L220L|PCDH15_ENST00000395440.1_Silent_p.L220L|PCDH15_ENST00000395445.1_Silent_p.L220L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Silent_p.L198L|PCDH15_ENST00000395430.1_Silent_p.L220L|PCDH15_ENST00000320301.6_Silent_p.L220L|PCDH15_ENST00000395446.1_Silent_p.L220L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	220	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTCATAGTTGAGCCTCTTCC	0.313										HNSCC(58;0.16)			22	120					0	0	0	0	A	56089401	G	A	56089401	2	1	372	1	0	0	0	0	0	0	0	1	11582	1277	45	2		2	PCDH15	10	56089401	Silent	SNP	G	TCGA-D6-8569-01A-11D-2394-08	21530756	56089401	79445346	83	71814											
WAPAL	23063	broad.mit.edu	37	chr10	88259531	88259531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcattgctttctgggggaGgctgcaaggagggtgatgga	8	11	17	5	0	2	1	1	1	1	0	2	4	2	4	0	6	2	3	0	6	2	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:88259531G>A	ENST00000298767.5	-	3	1941	c.1469C>T	c.(1468-1470)cCt>cTt	p.P490L		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	490	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTCTGGGGGAGGCTGCAAGGA	0.393													29	68					0	0	0	0	A	88259531	G	A	88259531	3	1	372	1	0	0	0	0	1	0	0	0	17344	1000	35	4	2171	4	WAPAL	10	88259531	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	32170130	88259531	47275216	84	71815											
PLCE1	51196	broad.mit.edu	37	chr10	95791128	95791128	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacattaactgcaacaacAtattgagaaaccatcagcat	18	10	4	9	0	1	1	1	1	0	1	1	2	1	1	1	0	7	2	1	0	6	4			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:95791128A>T	ENST00000260766.3	+	2	959	c.325A>T	c.(325-327)Ata>Tta	p.I109L	PLCE1_ENST00000371380.2_Missense_Mutation_p.I109L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	109					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTGCAACAACATATTGAGAAA	0.383													13	66					0	0	0	0	T	95791128	A	T	95791128	3	4	372	1	0	0	0	0	1	0	0	0	12106	217	8	5	327	5	PLCE1	10	95791128	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08	7531597	95791128	39743619	85	71816											
CRTAC1	55118	broad.mit.edu	37	chr10	99683126	99683126	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccaccggttattgcggaaCttgaacaacttgtcggtgta	9	12	10	10	3	0	1	0	1	0	0	2	2	1	2	2	3	4	2	2	3	5	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:99683126C>T	ENST00000370597.3	-	4	808	c.453G>A	c.(451-453)aaG>aaA	p.K151K	CRTAC1_ENST00000370591.2_Silent_p.K151K|CRTAC1_ENST00000298819.4_Silent_p.K151K	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	151						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TATTGCGGAACTTGAACAACT	0.587													11	46					0	0	0	0	T	99683126	C	T	99683126	2	4	372	1	0	0	0	0	0	0	0	1	3926	564	20	4		4	CRTAC1	10	99683126	Silent	SNP	C	TCGA-D6-8569-01A-11D-2394-08	3891998	99683126	35851621	86	71817											
CHST15	51363	broad.mit.edu	37	chr10	125805547	125805547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttcgttcccttcagtcCtcacttcgagaacagcaagc	9	12	7	13	2	2	1	2	0	0	1	6	2	4	1	2	0	3	3	2	0	2	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:125805547C>G	ENST00000346248.5	-	2	824	c.182G>C	c.(181-183)aGg>aCg	p.R61T	CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000421115.1_Missense_Mutation_p.R61T|CHST15_ENST00000435907.1_Missense_Mutation_p.R61T	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	61					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCCTTCAGTCCTCACTTCGAG	0.478													24	53					0	0	0	0	G	125805547	C	G	125805547	3	3	372	1	0	0	0	0	1	0	0	0	3432	681	24	4	1531	4	CHST15	10	125805547	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	26122421	125805547	9729200	87	71818											
EBF3	253738	broad.mit.edu	37	chr10	131761720	131761720	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcgccagcacgaagtggaAgaaattggatttccggaggt	12	7	15	7	3	0	1	0	0	0	1	1	6	1	4	2	4	2	1	2	4	3	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:131761720A>T	ENST00000368648.3	-	2	274	c.202T>A	c.(202-204)Ttc>Atc	p.F68I	EBF3_ENST00000355311.5_Missense_Mutation_p.F68I	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	68					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ACGAAGTGGAAGAAATTGGAT	0.592													13	47					0	0	0	0	T	131761720	A	T	131761720	3	4	372	1	0	0	0	0	1	0	0	0	4918	72	3	5	1513	5	EBF3	10	131761720	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08	5956173	131761720	3773027	88	71819											
HRAS	3265	broad.mit.edu	37	chr11	534285	534285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcgcactcttgcccacaCcgccggcgcccaccaccacc	7	4	7	23	4	2	0	1	0	1	0	2	0	2	0	7	1	2	1	7	1	0	1	rs104894226		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:534285C>A	ENST00000417302.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			12	28					9.31168e-06	9.81052e-06	1	0	A	534285	C	A	534285	3	1	372	1	0	0	0	0	1	0	0	0	7398	507	18	4	614	4	HRAS	11	534285	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08		534285	134472231	89	71820											
BRSK2	9024	broad.mit.edu	37	chr11	1464609	1464609	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggacgtgtggagctgcggCgtcatcctgttcgccttgct	3	11	15	12	5	1	0	1	0	0	0	3	2	2	2	2	3	3	3	2	3	0	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:1464609C>T	ENST00000308219.9	+	7	995	c.609C>T	c.(607-609)ggC>ggT	p.G203G	BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000528710.1_Silent_p.G143G|BRSK2_ENST00000382179.1_Silent_p.G249G|BRSK2_ENST00000526678.1_Silent_p.G203G|BRSK2_ENST00000531197.1_Silent_p.G203G|BRSK2_ENST00000528841.1_Silent_p.G203G|BRSK2_ENST00000308230.5_Silent_p.G203G	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	203	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGAGCTGCGGCGTCATCCTGT	0.716													7	12					0	0	0	0	T	1464609	C	T	1464609	2	4	372	1	0	0	0	0	0	0	0	1	1532	755	27	1		1	BRSK2	11	1464609	Silent	SNP	C	TCGA-D6-8569-01A-11D-2394-08	930324	1464609	133541907	90	71821											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1605717	1605717	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcttgcagcagctggattGgcaacaggatgacccacagc	10	6	14	11	0	0	1	0	1	0	0	0	3	0	3	1	4	5	5	1	4	1	2	rs148201859		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:1605717G>A	ENST00000382171.2	-	1	796	c.763C>T	c.(763-765)Caa>Taa	p.Q255*	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	255	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCTGGATTGGCAACAGGAT	0.592													50	158					0	0	0	0	A	1605717	G	A	1605717	4	1	372	1	0	0	0	0	0	1	0	0	8611	1357	47	4	77	4	KRTAP5-1	11	1605717	Nonsense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	141108	1605717	133400799	91	71822											
OR51A4	401666	broad.mit.edu	37	chr11	4967550	4967550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcaaagcggtggacaaCggccaggttgatgatgggca	10	5	17	9	3	0	2	0	2	0	0	0	3	0	3	2	6	2	3	2	6	2	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:4967550C>T	ENST00000380373.2	-	1	806	c.781G>A	c.(781-783)Gtt>Att	p.V261I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGTGGACAACGGCCAGGTTG	0.473													30	89					0	0	0	0	T	4967550	C	T	4967550	3	4	372	1	0	0	0	0	1	0	0	0	11158	536	19	1	162	1	OR51A4	11	4967550	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	3361833	4967550	130038966	92	71823											
ABCC8	6833	broad.mit.edu	37	chr11	17414551	17414551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggtcacttgtctgcaCggacgaaggaggcgaagacg	10	6	16	9	4	2	1	1	0	1	1	2	5	2	3	0	5	1	2	0	5	2	1	rs143557848		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:17414551C>T	ENST00000302539.4	-	39	4861	c.4736G>A	c.(4735-4737)cGt>cAt	p.R1579H	ABCC8_ENST00000389817.3_Missense_Mutation_p.R1578H	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1578					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTTGTCTGCACGGACGAAGGA	0.552													9	88					0	0	0	0	T	17414551	C	T	17414551	3	4	372	1	0	0	0	0	1	0	0	0	58	536	19	1	16	1	ABCC8	11	17414551	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	12447001	17414551	117591965	93	71824											
OR8H1	219469	broad.mit.edu	37	chr11	56057804	56057804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataaaagatggtgactccCaagagatgagaggcacaagt	16	6	11	8	0	0	4	0	2	0	3	1	6	1	4	2	2	0	1	2	2	4	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:56057804C>G	ENST00000313022.2	-	1	762	c.735G>C	c.(733-735)ttG>ttC	p.L245F		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TGGTGACTCCCAAGAGATGAG	0.363													32	72					0	0	0	0	G	56057804	C	G	56057804	3	3	372	1	0	0	0	0	1	0	0	0	11308	593	21	4	202	4	OR8H1	11	56057804	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	38643253	56057804	78948712	94	71825											
TCN1	6947	broad.mit.edu	37	chr11	59629133	59629133	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctggtagtagttagtCaggggagtgccattgtgtgc	7	12	16	6	0	1	1	1	1	0	0	1	2	1	2	1	3	3	4	1	3	3	4			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:59629133C>A	ENST00000257264.3	-	4	527	c.423G>T	c.(421-423)ctG>ctT	p.L141L	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	141					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTAGTTAGTCAGGGGAGTGC	0.443													30	72					1.16021e-09	1.29155e-09	1	0	A	59629133	C	A	59629133	2	1	372	1	0	0	0	0	0	0	0	1	15800	813	29	2		2	TCN1	11	59629133	Silent	SNP	C	TCGA-D6-8569-01A-11D-2394-08	3571329	59629133	75377383	95	71826											
INTS5	80789	broad.mit.edu	37	chr11	62416262	62416262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtcacaagcctcacgcacGgtgtctggcacagccaggcc	8	5	12	16	3	3	0	2	0	1	0	3	0	3	0	3	4	2	2	3	4	1	0			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:62416262G>A	ENST00000330574.2	-	2	1342	c.1290C>T	c.(1288-1290)acC>acT	p.T430T		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	430					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCTCACGCACGGTGTCTGGCA	0.627													17	51					0	0	0	0	A	62416262	G	A	62416262	2	1	372	1	0	0	0	0	0	0	0	1	7834	1103	39	1		1	INTS5	11	62416262	Silent	SNP	G	TCGA-D6-8569-01A-11D-2394-08	2787129	62416262	72590254	96	71827											
RNASEH2C	84153	broad.mit.edu	37	chr11	65487842	65487842	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaggccaggcggcaccgcCacctcctctccccgtagaca	8	4	10	19	4	1	1	0	0	1	1	3	2	2	1	7	3	0	2	7	3	1	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:65487842C>T	ENST00000308418.4	-	2	407	c.219G>A	c.(217-219)gtG>gtA	p.V73V	RNASEH2C_ENST00000527610.1_Silent_p.V73V|RNASEH2C_ENST00000528220.1_5'UTR	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	73					RNA catabolic process	nucleus|ribonuclease H2 complex				cervix(1)	1						GCGGCACCGCCACCTCCTCTC	0.662													24	49					0	0	0	0	T	65487842	C	T	65487842	2	4	372	1	0	0	0	0	0	0	0	1	13499	581	21	4		4	RNASEH2C	11	65487842	Silent	SNP	C	TCGA-D6-8569-01A-11D-2394-08	3071580	65487842	69518674	97	71828											
KLC2	64837	broad.mit.edu	37	chr11	66026136	66026136	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgggcaccaaggctgTcatccagggactggagactc	8	7	14	12	1	1	1	1	0	0	1	3	3	2	2	2	4	1	3	2	4	1	0			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:66026136T>G	ENST00000417856.1	+	2	314	c.71T>G	c.(70-72)gTc>gGc	p.V24G	KLC2_ENST00000394078.1_Missense_Mutation_p.V24G|KLC2_ENST00000316924.5_Missense_Mutation_p.V24G|KLC2_ENST00000421552.1_Missense_Mutation_p.V24G|KLC2_ENST00000394066.2_Missense_Mutation_p.V24G|KLC2_ENST00000394067.2_Missense_Mutation_p.V24G	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	24					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACCAAGGCTGTCATCCAGGGA	0.657											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	61					0	0	0	0	G	66026136	T	G	66026136	3	3	372	1	0	0	0	0	1	0	0	0	8386	1667	58	5	73	5	KLC2	11	66026136	Missense_Mutation	SNP	T	TCGA-D6-8569-01A-11D-2394-08	538294	66026136	68980380	98	71829											
NPAS4	266743	broad.mit.edu	37	chr11	66191788	66191788	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttgacgcccagcagtgcaaCcttcccagatccactaacta	11	8	7	15	1	0	2	0	1	0	1	2	2	2	2	4	0	4	3	4	0	3	4			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:66191788C>G	ENST00000311034.2	+	7	1603	c.1427C>G	c.(1426-1428)aCc>aGc	p.T476S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	476					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGCAGTGCAACCTTCCCAGAT	0.552													50	302					0	0	0	0	G	66191788	C	G	66191788	3	3	372	1	0	0	0	0	1	0	0	0	10635	507	18	4	1453	4	NPAS4	11	66191788	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	165652	66191788	68814728	99	71830											
CACNA1C	775	broad.mit.edu	37	chr12	2224590	2224590	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccacgcagcggaagcggCagcaatatgggaaacccaag	13	3	13	12	3	0	0	0	0	0	0	1	2	1	2	2	3	4	4	2	3	5	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:2224590C>A	ENST00000399655.1	+	2	515	c.250C>A	c.(250-252)Cag>Aag	p.Q84K	CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q84K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q84K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q84K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q84K	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	84			Q -> R (in dbSNP:rs1051345).		axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCGGAAGCGGCAGCAATATGG	0.672													8	26					0.000157383	0.000162906	1	0	A	2224590	C	A	2224590	3	1	372	1	0	0	0	0	1	0	0	0	2565	711	25	4	256	4	CACNA1C	12	2224590	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08		2224590	131627305	100	71831											
NDUFA9	4704	broad.mit.edu	37	chr12	4796104	4796104	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctttgtttatccaaagAtgcacatcacagacatgaaa	14	11	7	9	0	1	3	1	1	0	2	3	3	3	3	2	1	1	2	2	1	3	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:4796104A>G	ENST00000266544.5	+	11	984	c.963_splice	c.e11-1	p.M322_splice	RP11-234B24.6_ENST00000544741.2_Intron|NDUFA9_ENST00000540688.1_Splice_Site_p.M81_splice	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	322					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	TTATCCAAAGATGCACATCAC	0.478													11	10					0	0	0	0	G	4796104	A	G	4796104	5	3	372	1	0	0	0	0	0	0	1	0	10342	347	12	5	1006	5	NDUFA9	12	4796104	Splice_Site	SNP	A	TCGA-D6-8569-01A-11D-2394-08	2571514	4796104	129055791	101	71832											
CLEC4C	170482	broad.mit.edu	37	chr12	7899926	7899926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcttacctcggtcttgagGctcttcttcaggcaccattg	5	14	10	12	1	4	1	1	1	3	0	5	1	4	1	2	3	2	3	2	3	1	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:7899926G>A	ENST00000542353.1	-	2	509	c.19C>T	c.(19-21)Cct>Tct	p.P7S	CLEC4C_ENST00000540085.1_Missense_Mutation_p.P7S|CLEC4C_ENST00000354629.5_Missense_Mutation_p.P7S|CLEC4C_ENST00000360345.3_Missense_Mutation_p.P7S	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	7					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CGGTCTTGAGGCTCTTCTTCA	0.488													28	65					0	0	0	0	A	7899926	G	A	7899926	3	1	372	1	0	0	0	0	1	0	0	0	3543	1203	42	4	646	4	CLEC4C	12	7899926	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	3103822	7899926	125951969	102	71833											
CLEC4D	338339	broad.mit.edu	37	chr12	8673786	8673786	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgttcttgtttataaccaAgataaatgggcctggaatga	12	14	10	5	0	1	2	0	1	1	1	1	3	1	3	2	2	1	3	2	2	6	7			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:8673786A>G	ENST00000299665.2	+	6	760	c.567A>G	c.(565-567)caA>caG	p.Q189Q		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	189	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TTTATAACCAAGATAAATGGG	0.368													6	51					0	0	0	0	G	8673786	A	G	8673786	2	3	372	1	0	0	0	0	0	0	0	1	3544	69	3	5		5	CLEC4D	12	8673786	Silent	SNP	A	TCGA-D6-8569-01A-11D-2394-08	773860	8673786	125178109	103	71834											
CLEC1B	51266	broad.mit.edu	37	chr12	10149793	10149793	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctgattgttttaccacAtattgacagaagcgctttgc	10	15	8	8	1	1	3	0	2	1	1	1	3	1	3	1	0	3	3	1	0	3	7			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:10149793A>G	ENST00000428126.2	-	4	419	c.150T>C	c.(148-150)taT>taC	p.Y50Y	CLEC1B_ENST00000298527.6_Silent_p.Y83Y|CLEC1B_ENST00000348658.4_Silent_p.Y50Y			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	83					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						GTTTTACCACATATTGACAGA	0.403													10	53					0	0	0	0	G	10149793	A	G	10149793	2	3	372	1	0	0	0	0	0	0	0	1	3536	224	8	5		5	CLEC1B	12	10149793	Silent	SNP	A	TCGA-D6-8569-01A-11D-2394-08	1476007	10149793	123702102	104	71835											
LRRK2	120892	broad.mit.edu	37	chr12	40702283	40702283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactaggtttcttcaacagcGattaaaaaaggctgtgcctt	12	13	8	8	1	2	0	1	0	1	0	2	1	2	0	1	2	4	2	1	2	6	6	rs72546338	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:40702283G>A	ENST00000298910.7	+	29	4032	c.3974G>A	c.(3973-3975)cGa>cAa	p.R1325Q		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1325					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTCAACAGCGATTAAAAAAG	0.318													5	30					0	0	0	0	A	40702283	G	A	40702283	3	1	372	1	0	0	0	0	1	0	0	0	9097	1058	37	1	4088	1	LRRK2	12	40702283	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	30552490	40702283	93149612	105	71836											
LRRK2	120892	broad.mit.edu	37	chr12	40702447	40702447	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaagactggcctatccaaAtaagagacaaaagaaagaga	21	5	9	6	0	0	5	0	1	0	4	1	7	1	5	2	1	0	0	2	1	7	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:40702447A>G	ENST00000298910.7	+	29	4196	c.4138A>G	c.(4138-4140)Ata>Gta	p.I1380V		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1380	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCCTATCCAAATAAGAGACAA	0.348													17	53					0	0	0	0	G	40702447	A	G	40702447	3	3	372	1	0	0	0	0	1	0	0	0	9097	101	4	5	4252	5	LRRK2	12	40702447	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08	164	40702447	93149448	106	71837											
TMEM117	84216	broad.mit.edu	37	chr12	44782157	44782157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttatttggttctttggacGatttttgaaaaatgagccac	10	17	8	6	1	1	2	0	2	1	0	1	4	1	3	1	2	1	1	1	2	3	7			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:44782157G>A	ENST00000266534.3	+	8	1374	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	TMEM117_ENST00000536799.1_Missense_Mutation_p.R312Q|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	416						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TTCTTTGGACGATTTTTGAAA	0.413													20	71					0	0	0	0	A	44782157	G	A	44782157	3	1	372	1	0	0	0	0	1	0	0	0	16125	1058	37	1	1273	1	TMEM117	12	44782157	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	4079710	44782157	89069738	107	71838											
OR6C68	403284	broad.mit.edu	37	chr12	55886852	55886852	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaattcccttctgttcaaCaaaagaaaaaagccttttct	16	13	3	9	0	3	1	1	0	2	1	4	1	4	1	2	0	2	1	2	0	8	6			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:55886852C>T	ENST00000379662.1	+	1	706	c.706C>T	c.(706-708)Caa>Taa	p.Q236*	OR6C68_ENST00000548615.1_Nonsense_Mutation_p.Q231*|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TTCTGTTCAACAAAAGAAAAA	0.353													10	39					0	0	0	0	T	55886852	C	T	55886852	4	4	372	1	0	0	0	0	0	1	0	0	11267	479	17	4	708	4	OR6C68	12	55886852	Nonsense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	11104695	55886852	77965043	108	71839											
CPSF6	11052	broad.mit.edu	37	chr12	69653876	69653876	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgcaatttctttaattaaAcaatccaaagtatctgctga	15	14	4	8	0	2	1	0	1	2	0	3	1	3	1	1	0	3	3	1	0	7	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:69653876A>G	ENST00000435070.2	+	8	1478	c.1368A>G	c.(1366-1368)aaA>aaG	p.K456K	CPSF6_ENST00000266679.8_Silent_p.K493K|CPSF6_ENST00000456847.3_Silent_p.K383K|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	456					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CTTTAATTAAACAATCCAAAG	0.363													22	40					0	0	0	0	G	69653876	A	G	69653876	2	3	372	1	0	0	0	0	0	0	0	1	3859	40	2	5		5	CPSF6	12	69653876	Silent	SNP	A	TCGA-D6-8569-01A-11D-2394-08	13767024	69653876	64198019	109	71840											
BRAP	8315	broad.mit.edu	37	chr12	112110580	112110580	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaactatccgcatcagccTatgtacaccaatggggaaaa	17	7	7	10	1	1	0	1	0	0	0	2	1	2	1	3	2	3	2	3	2	8	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:112110580T>C	ENST00000419234.4	-	5	827		c.e5-2		BRAP_ENST00000327551.6_Splice_Site|BRAP_ENST00000539060.1_Intron	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein						MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CGCATCAGCCTATGTACACCA	0.383													20	42					0	0	0	0	C	112110580	T	C	112110580	5	2	372	1	0	0	0	0	0	0	1	0	1505	1536	53	5	1178	5	BRAP	12	112110580	Splice_Site	SNP	T	TCGA-D6-8569-01A-11D-2394-08	42456704	112110580	21741315	110	71841											
LATS2	26524	broad.mit.edu	37	chr13	21557591	21557591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcagcaggctcatcatgtCcccaccagggatgtagtcca	10	8	10	13	0	3	0	3	0	0	0	5	2	5	1	4	2	1	3	4	2	1	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:21557591C>A	ENST00000382592.4	-	5	2659	c.2254G>T	c.(2254-2256)Gac>Tac	p.D752Y	LATS2_ENST00000542899.1_Missense_Mutation_p.D752Y	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	752	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCATCATGTCCCCACCAGGG	0.537													40	113					1.49673e-21	1.8526e-21	1	0	A	21557591	C	A	21557591	3	1	372	1	0	0	0	0	1	0	0	0	8700	855	30	2	1028	2	LATS2	13	21557591	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08		21557591	93612287	111	71842											
NBEA	26960	broad.mit.edu	37	chr13	35630239	35630239	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caactggtatcttatggtgaTatggcttggcatgttaacac	10	14	10	7	0	1	1	0	1	1	0	1	1	1	1	0	4	2	4	0	4	5	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:35630239T>C	ENST00000400445.3	+	7	1599	c.1065T>C	c.(1063-1065)gaT>gaC	p.D355D	NBEA_ENST00000310336.4_Silent_p.D355D|NBEA_ENST00000540320.1_Silent_p.D355D|NBEA_ENST00000379939.2_Silent_p.D355D	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	355						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTATGGTGATATGGCTTGGC	0.323													5	44					0	0	0	0	C	35630239	T	C	35630239	2	2	372	1	0	0	0	0	0	0	0	1	10257	1403	49	5		5	NBEA	13	35630239	Silent	SNP	T	TCGA-D6-8569-01A-11D-2394-08	14072648	35630239	79539639	112	71843											
MED4	29079	broad.mit.edu	37	chr13	48653988	48653988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttaacattacctggcaatCttcctgctgcaagtgcatct	9	13	7	12	0	2	0	0	0	2	0	3	0	3	0	2	1	5	5	2	1	4	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:48653988C>A	ENST00000258648.2	-	6	657	c.632G>T	c.(631-633)aGa>aTa	p.R211I	MED4_ENST00000378586.1_Missense_Mutation_p.R165I|MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	211					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		ACCTGGCAATCTTCCTGCTGC	0.438													29	81					1.16021e-09	1.29155e-09	1	0	A	48653988	C	A	48653988	3	1	372	1	0	0	0	0	1	0	0	0	9519	913	32	2	188	2	MED4	13	48653988	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	13023749	48653988	66515890	113	71844											
PCDH17	27253	broad.mit.edu	37	chr13	58208589	58208589	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaacgacgaccacctgtttGagatcgacccgtccagcggc	9	6	11	15	5	0	1	0	1	0	1	2	5	1	1	4	1	2	2	4	1	1	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:58208589G>C	ENST00000377918.3	+	1	1935	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	637	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCACCTGTTTGAGATCGACCC	0.647													54	116					0	0	0	0	C	58208589	G	C	58208589	3	2	372	1	0	0	0	0	1	0	0	0	11583	1291	45	2	1911	2	PCDH17	13	58208589	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	9554601	58208589	56961289	114	71845											
PCDH9	5101	broad.mit.edu	37	chr13	67802561	67802561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagccaacaggtaaaaatcCctcaggtccatgataatgta	15	8	8	10	0	1	1	1	1	0	0	3	1	3	1	3	2	2	3	3	2	6	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:67802561C>A	ENST00000544246.1	-	2	703	c.12G>T	c.(10-12)agG>agT	p.R4S	PCDH9_ENST00000328454.5_Missense_Mutation_p.R4S|PCDH9_ENST00000377865.2_Missense_Mutation_p.R4S|PCDH9_ENST00000456367.1_Missense_Mutation_p.R4S|PCDH9_ENST00000377861.3_Missense_Mutation_p.R4S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	4					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGTAAAAATCCCTCAGGTCCA	0.393													11	34					6.40141e-05	6.665e-05	1	0	A	67802561	C	A	67802561	3	1	372	1	0	0	0	0	1	0	0	0	11589	622	22	4	3717	4	PCDH9	13	67802561	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	9593972	67802561	47367317	115	71846											
FBXL3	26224	broad.mit.edu	37	chr13	77581837	77581837	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacatgtttttcagaagacaAtgcaagtaacaactcatcac	17	10	5	9	0	3	2	3	0	0	2	3	2	3	2	0	0	4	3	0	0	6	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:77581837A>G	ENST00000355619.5	-	5	1054	c.730T>C	c.(730-732)Ttg>Ctg	p.L244L	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	244					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCAGAAGACAATGCAAGTAAC	0.403													26	52					0	0	0	0	G	77581837	A	G	77581837	2	3	372	1	0	0	0	0	0	0	0	1	5765	98	4	5		5	FBXL3	13	77581837	Silent	SNP	A	TCGA-D6-8569-01A-11D-2394-08	9779276	77581837	37588041	116	71847											
FAM155A	728215	broad.mit.edu	37	chr13	108518299	108518299	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaaatccgacaagttccAgagcggagtgggatgcttgc	12	8	13	8	2	0	1	0	0	0	1	2	4	2	3	2	2	3	3	2	2	4	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:108518299A>C	ENST00000375915.2	-	1	784	c.646T>G	c.(646-648)Tgg>Ggg	p.W216G		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	216						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GACAAGTTCCAGAGCGGAGTG	0.582													32	107					0	0	0	0	C	108518299	A	C	108518299	3	2	372	1	0	0	0	0	1	0	0	0	5506	188	7	5	742	5	FAM155A	13	108518299	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08	30936462	108518299	6651579	117	71848											
INF2	64423	broad.mit.edu	37	chr14	105175994	105175994	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcacagaggagcgagccaAgctggccagcgccgaccact	11	4	12	14	3	1	1	1	0	0	1	1	4	1	2	4	2	4	1	4	2	1	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr14:105175994A>T	ENST00000392634.4	+	12	2202	c.2090A>T	c.(2089-2091)aAg>aTg	p.K697M	INF2_ENST00000330634.7_Missense_Mutation_p.K697M	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	697	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GAGCGAGCCAAGCTGGCCAGC	0.667													23	56					0	0	0	0	T	105175994	A	T	105175994	3	4	372	1	0	0	0	0	1	0	0	0	7787	72	3	5	2136	5	INF2	14	105175994	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08		105175994	2173546	118	71849											
TUBGCP4	27229	broad.mit.edu	37	chr15	43670086	43670086	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgatggttgtagtagaacaAattaaaagtcaaaaggtgag	17	10	12	2	0	1	3	1	2	0	1	1	3	1	3	0	2	1	3	0	2	8	4			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr15:43670086A>G	ENST00000564079.1	+	5	666	c.426A>G	c.(424-426)caA>caG	p.Q142Q	TUBGCP4_ENST00000260383.7_Silent_p.Q142Q|TUBGCP4_ENST00000399460.3_Silent_p.Q6Q	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	142					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TAGTAGAACAAATTAAAAGTC	0.313													21	71					0	0	0	0	G	43670086	A	G	43670086	2	3	372	1	0	0	0	0	0	0	0	1	16864	11	1	5		5	TUBGCP4	15	43670086	Silent	SNP	A	TCGA-D6-8569-01A-11D-2394-08		43670086	58861306	119	71850											
UNC13C	440279	broad.mit.edu	37	chr15	54630594	54630594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccccccaaaagcgagcatGgtggtgaaggactgtgtaag	12	6	14	9	1	0	1	0	1	0	0	0	3	0	2	3	3	3	2	3	3	4	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr15:54630594G>T	ENST00000545554.1	+	16	4620	c.4620G>T	c.(4618-4620)atG>atT	p.M1540I	UNC13C_ENST00000260323.11_Missense_Mutation_p.M1540I|UNC13C_ENST00000537900.1_Missense_Mutation_p.M1538I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1540					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGCGAGCATGGTGGTGAAGG	0.428													16	122					2.35188e-11	2.70314e-11	1	0	T	54630594	G	T	54630594	3	4	372	1	0	0	0	0	1	0	0	0	17082	1348	47	4	4678	4	UNC13C	15	54630594	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	10960508	54630594	47900798	120	71851											
ADAMTS17	170691	broad.mit.edu	37	chr15	100636618	100636618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaggtcttgccgtcccCgctgcagaccccgcatctgt	4	9	12	16	3	2	1	0	0	2	1	3	1	3	1	5	2	2	4	5	2	0	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr15:100636618C>A	ENST00000268070.4	-	15	2185	c.2080G>T	c.(2080-2082)Ggg>Tgg	p.G694W		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	694	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TTGCCGTCCCCGCTGCAGACC	0.582													58	109					4.88482e-21	5.96285e-21	1	0	A	100636618	C	A	100636618	3	1	372	1	0	0	0	0	1	0	0	0	262	652	23	3	1239	3	ADAMTS17	15	100636618	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	46006024	100636618	1894774	121	71852											
HBA2	3040	broad.mit.edu	37	chr16	223474	223474	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttctctgcacagctcCtaagccactgcctgctggtg	5	11	8	17	0	2	0	0	0	2	0	4	0	3	0	4	1	5	3	4	1	1	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:223474C>T	ENST00000251595.6	+	3	370	c.304C>T	c.(304-306)Cta>Tta	p.L102L	HBA2_ENST00000397806.1_Silent_p.L70L	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	102					hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	TGCACAGCTCCTAAGCCACTG	0.687											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	28					0	0	0	0	T	223474	C	T	223474	2	4	372	1	0	0	0	0	0	0	0	1	7027	680	24	4		4	HBA2	16	223474	Silent	SNP	C	TCGA-D6-8569-01A-11D-2394-08		223474	90131279	122	71853											
EME2	197342	broad.mit.edu	37	chr16	1825247	1825247	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccacttctccaggtgggctCtggcagaggccaagctcggg	6	7	14	14	1	2	1	0	0	2	1	4	1	2	1	3	5	1	3	3	5	1	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:1825247C>G	ENST00000307394.7	+	5	633	c.633C>G	c.(631-633)ctC>ctG	p.L211L	EME2_ENST00000568449.1_Intron			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	190					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CAGGTGGGCTCTGGCAGAGGC	0.672								Direct reversal of damage;Homologous recombination					7	43					0	0	0	0	G	1825247	C	G	1825247	2	3	372	1	0	0	0	0	0	0	0	1	5127	900	32	2		2	EME2	16	1825247	Silent	SNP	C	TCGA-D6-8569-01A-11D-2394-08	1601773	1825247	88529506	123	71854											
SRCAP	10847	broad.mit.edu	37	chr16	30732114	30732114	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcccctgggccctgtccCagttcgacctcctccaggtc	3	8	11	19	2	0	0	0	0	0	0	5	1	3	0	7	3	0	1	7	3	0	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:30732114C>G	ENST00000262518.4	+	20	3453	c.3068C>G	c.(3067-3069)cCa>cGa	p.P1023R	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1023R|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1023R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1023	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCCCTGTCCCAGTTCGACCT	0.612													42	69					0	0	0	0	G	30732114	C	G	30732114	3	3	372	1	0	0	0	0	1	0	0	0	15225	594	21	4	3138	4	SRCAP	16	30732114	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	28906867	30732114	59622639	124	71855											
GPT2	84706	broad.mit.edu	37	chr16	46960923	46960923	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcccggcagtggctttggGcagagggaaggcacttacca	8	7	16	10	1	0	1	0	0	0	1	0	2	0	2	2	5	2	4	2	5	2	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:46960923G>A	ENST00000440783.2	+	11	1820	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G	GPT2_ENST00000340124.4_Silent_p.G485G	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	485					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTGGCTTTGGGCAGAGGGAAG	0.562													31	77					0	0	0	0	A	46960923	G	A	46960923	2	1	372	1	0	0	0	0	0	0	0	1	6788	1190	42	4		4	GPT2	16	46960923	Silent	SNP	G	TCGA-D6-8569-01A-11D-2394-08	16228809	46960923	43393830	125	71856											
CHD9	80205	broad.mit.edu	37	chr16	53279691	53279691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccaaaggagcaggacaaaCtaatgtacctaacttggtca	16	8	8	9	0	1	0	1	0	0	0	2	2	2	2	2	3	4	2	2	3	5	4			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:53279691C>G	ENST00000566029.1	+	15	3592	c.3383C>G	c.(3382-3384)aCt>aGt	p.T1128S	CHD9_ENST00000564845.1_Missense_Mutation_p.T1128S|CHD9_ENST00000447540.1_Missense_Mutation_p.T1128S|CHD9_ENST00000398510.3_Missense_Mutation_p.T1128S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1128					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCAGGACAAACTAATGTACCT	0.323													17	22					0	0	0	0	G	53279691	C	G	53279691	3	3	372	1	0	0	0	0	1	0	0	0	3361	565	20	4	3437	4	CHD9	16	53279691	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	6318768	53279691	37075062	126	71857											
MMP15	4324	broad.mit.edu	37	chr16	58076155	58076155	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccgctggttctggcgagtCcggcacaaccgcgtcctgga	5	7	15	14	5	1	0	0	0	1	0	3	2	3	1	4	5	1	3	4	5	1	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:58076155C>T	ENST00000219271.3	+	7	1970	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	395	Hemopexin-like 1.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTGGCGAGTCCGGCACAACC	0.657													10	30					0	0	0	0	T	58076155	C	T	58076155	2	4	372	1	0	0	0	0	0	0	0	1	9723	842	30	2		2	MMP15	16	58076155	Silent	SNP	C	TCGA-D6-8569-01A-11D-2394-08	4796464	58076155	32278598	127	71858											
DPEP2	64174	broad.mit.edu	37	chr16	68026031	68026031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcggcgtatgaggtcaatCtgctccagggtgaggcgcag	8	8	16	9	3	2	2	1	2	1	0	3	2	3	2	1	4	2	3	1	4	2	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:68026031C>T	ENST00000412757.2	-	5	1121	c.456G>A	c.(454-456)caG>caA	p.Q152Q	DPEP2_ENST00000572888.1_Silent_p.Q152Q|DPEP2_ENST00000393847.1_Silent_p.Q152Q			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	152					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGAGGTCAATCTGCTCCAGGG	0.582													29	82					0	0	0	0	T	68026031	C	T	68026031	2	4	372	1	0	0	0	0	0	0	0	1	4750	912	32	2		2	DPEP2	16	68026031	Silent	SNP	C	TCGA-D6-8569-01A-11D-2394-08	9949876	68026031	22328722	128	71859											
CD68	968	broad.mit.edu	37	chr17	7484822	7484822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgcccatccgcctaccaggCcctctgagcatttgcttcaa	8	9	7	17	2	2	1	1	1	1	0	3	1	3	1	5	1	3	2	5	1	2	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr17:7484822C>T	ENST00000250092.6	+	6	1269	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	CD68_ENST00000380498.6_Missense_Mutation_p.A326V	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	353						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						GCCTACCAGGCCCTCTGAGCA	0.577													26	34					0	0	0	0	T	7484822	C	T	7484822	3	4	372	1	0	0	0	0	1	0	0	0	3059	739	26	4	1080	4	CD68	17	7484822	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08		7484822	73710388	129	71860											
TP53	7157	broad.mit.edu	37	chr17	7577109	7577109	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccggtctctcccaggacAggcacaaacacgcacctcaa	11	4	9	17	3	2	0	1	0	1	0	4	1	3	1	3	3	1	2	3	3	2	0			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr17:7577109A>C	ENST00000420246.2	-	8	961	c.829T>G	c.(829-831)Tgt>Ggt	p.C277G	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.C277G|TP53_ENST00000445888.2_Missense_Mutation_p.C277G|TP53_ENST00000455263.2_Missense_Mutation_p.C277G|TP53_ENST00000359597.4_Missense_Mutation_p.C277G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.C277G(5)|p.?(2)|p.A276fs*69(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277R(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCCCAGGACAGGCACAAACA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	15					0	0	0	0	C	7577109	A	C	7577109	3	2	372	1	0	0	0	0	1	0	0	0	16476	188	7	5	457	5	TP53	17	7577109	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08	92287	7577109	73618101	130	71861											
MYH8	4626	broad.mit.edu	37	chr17	10293783	10293783	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgtttactctgcactGatttttgtgtgaacctctcg	6	17	10	8	1	2	2	0	2	2	0	3	2	2	2	1	1	3	2	1	1	2	4			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr17:10293783G>T	ENST00000403437.2	-	40	5896	c.5802C>A	c.(5800-5802)atC>atA	p.I1934I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1934					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACTCTGCACTGATTTTTGTGT	0.473									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				27	116					4.87955e-14	5.68211e-14	1	0	T	10293783	G	T	10293783	2	4	372	1	0	0	0	0	0	0	0	1	10111	1280	45	2		2	MYH8	17	10293783	Silent	SNP	G	TCGA-D6-8569-01A-11D-2394-08	2716674	10293783	70901427	131	71862											
CSHL1	1444	broad.mit.edu	37	chr17	61987405	61987405	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgaggggaaatgaagaataAggtgagttctcttgggtcag	13	9	15	4	1	2	3	1	2	1	1	3	5	2	4	0	4	0	1	0	4	4	3	rs2006122	by1000genomes	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr17:61987405A>T	ENST00000450719.3	-	3	543	c.306T>A	c.(304-306)ccT>ccA	p.P102P	CSHL1_ENST00000561003.1_Silent_p.P113P|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ATGAAGAATAAGGTGAGTTCT	0.547													8	129					0	0	0	0	T	61987405	A	T	61987405	2	4	372	1	0	0	0	0	0	0	0	1	3974	87	3	5		5	CSHL1	17	61987405	Silent	SNP	A	TCGA-D6-8569-01A-11D-2394-08	51693622	61987405	19207805	132	71863											
CEP192	55125	broad.mit.edu	37	chr18	13072783	13072783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actagctttaagaaataattCtgcatctacaactcaacatt	16	13	3	9	0	3	1	1	0	2	1	3	1	3	1	0	0	5	2	0	0	7	7			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr18:13072783C>A	ENST00000506447.1	+	29	5458	c.5378C>A	c.(5377-5379)tCt>tAt	p.S1793Y	CEP192_ENST00000325971.8_Missense_Mutation_p.S1197Y|CEP192_ENST00000430049.2_Missense_Mutation_p.S1318Y	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1388										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGAAATAATTCTGCATCTACA	0.343													31	62					2.81731e-10	3.19657e-10	1	0	A	13072783	C	A	13072783	3	1	372	1	0	0	0	0	1	0	0	0	3280	913	32	2	5488	2	CEP192	18	13072783	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08		13072783	65004465	133	71864											
SBNO2	22904	broad.mit.edu	37	chr19	1112834	1112834	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccttctcgccgctcatgaAgcgctgcttctccctgaggt	5	11	9	16	3	3	2	1	2	2	0	5	2	3	2	3	1	2	3	3	1	1	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:1112834A>G	ENST00000361757.3	-	20	2599	c.2362T>C	c.(2362-2364)Ttc>Ctc	p.F788L	SBNO2_ENST00000438103.2_Missense_Mutation_p.F731L|SBNO2_ENST00000587024.1_Missense_Mutation_p.F778L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	788					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CCGCTCATGAAGCGCTGCTTC	0.701													2	3					0	0	0	0	G	1112834	A	G	1112834	3	3	372	1	0	0	0	0	1	0	0	0	13949	72	3	5	1790	5	SBNO2	19	1112834	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08		1112834	58016149	134	71865											
AKAP8L	26993	broad.mit.edu	37	chr19	15514303	15514303	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctttctccacctgagccGtacacgcctccttgcatcat	7	11	5	18	2	2	1	1	1	1	0	4	1	3	1	6	0	3	2	6	0	1	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:15514303G>A	ENST00000397410.4	-	4	409	c.345C>T	c.(343-345)taC>taT	p.Y115Y	AKAP8L_ENST00000595465.1_Intron|AKAP8L_ENST00000595136.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	115						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CACCTGAGCCGTACACGCCTC	0.577													5	76					0	0	0	0	A	15514303	G	A	15514303	2	1	372	1	0	0	0	0	0	0	0	1	458	1140	40	1		1	AKAP8L	19	15514303	Silent	SNP	G	TCGA-D6-8569-01A-11D-2394-08	14401469	15514303	43614680	135	71866											
CYP2A13	1553	broad.mit.edu	37	chr19	41594866	41594866	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggccctgtgttcaccatTcacttggggccccggcgggt	4	11	13	13	2	2	0	2	0	0	0	2	0	2	0	4	5	0	1	4	5	1	4			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:41594866T>A	ENST00000330436.3	+	2	213	c.213T>A	c.(211-213)atT>atA	p.I71I		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	71					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TGTTCACCATTCACTTGGGGC	0.632													32	33					0	0	0	0	A	41594866	T	A	41594866	2	1	372	1	0	0	0	0	0	0	0	1	4193	1771	62	5		5	CYP2A13	19	41594866	Silent	SNP	T	TCGA-D6-8569-01A-11D-2394-08	26080563	41594866	17534117	136	71867											
NOVA2	4858	broad.mit.edu	37	chr19	46444162	46444162	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgtggcgcctcccttgccGatgatcaggcccgccgtgct	4	8	12	17	5	1	1	1	1	0	0	2	2	2	1	6	2	2	1	6	2	0	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:46444162G>A	ENST00000263257.5	-	4	632	c.438C>T	c.(436-438)atC>atT	p.I146I		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	146	KH 2.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CTCCCTTGCCGATGATCAGGC	0.542													5	23					0	0	0	0	A	46444162	G	A	46444162	2	1	372	1	0	0	0	0	0	0	0	1	10625	1048	37	1		1	NOVA2	19	46444162	Silent	SNP	G	TCGA-D6-8569-01A-11D-2394-08	4849296	46444162	12684821	137	71868											
ZNF787	126208	broad.mit.edu	37	chr19	56600191	56600191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtagggcttctcgcccGtgtggatgcgccggtgctgc	3	9	17	12	5	1	0	0	0	1	0	2	1	1	1	2	4	3	3	2	4	1	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:56600191G>A	ENST00000270459.3	-	3	468	c.350C>T	c.(349-351)aCg>aTg	p.T117M		NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN	zinc finger protein 787	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CTTCTCGCCCGTGTGGATGCG	0.682													5	8					0	0	0	0	A	56600191	G	A	56600191	3	1	372	1	0	0	0	0	1	0	0	0	18252	1145	40	1	805	1	ZNF787	19	56600191	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	10156029	56600191	2528792	138	71869											
MYLK2	85366	broad.mit.edu	37	chr20	30418934	30418934	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagtatgggggtgatcAcctacatgctgtgagctccc	7	11	14	9	0	1	2	1	2	0	0	2	3	2	3	2	3	3	3	2	3	2	2			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr20:30418934A>C	ENST00000375994.2	+	9	1687	c.1414A>C	c.(1414-1416)Acc>Ccc	p.T472P	MYLK2_ENST00000375985.4_Missense_Mutation_p.T472P|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	472	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGGGGTGATCACCTACATGCT	0.567													35	90					0	0	0	0	C	30418934	A	C	30418934	3	2	372	1	0	0	0	0	1	0	0	0	10127	159	6	5	1448	5	MYLK2	20	30418934	Missense_Mutation	SNP	A	TCGA-D6-8569-01A-11D-2394-08		30418934	32606586	139	71870											
SS18L1	26039	broad.mit.edu	37	chr20	60738656	60738656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggcagcggcccatggcGccctaccggccctcccagca	6	4	13	18	3	0	0	0	0	0	0	1	0	1	0	5	5	3	2	5	5	1	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr20:60738656G>A	ENST00000331758.3	+	6	725	c.699G>A	c.(697-699)gcG>gcA	p.A233A	SS18L1_ENST00000370848.4_Silent_p.A236A|SS18L1_ENST00000421564.1_Silent_p.A233A	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	233	Gln-rich.				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GGCCCATGGCGCCCTACCGGC	0.716			T	SSX1	synovial sarcoma								11	12					0	0	0	0	A	60738656	G	A	60738656	2	1	372	1	0	0	0	0	0	0	0	1	15266	1074	38	1		1	SS18L1	20	60738656	Silent	SNP	G	TCGA-D6-8569-01A-11D-2394-08	30319722	60738656	2286864	140	71871											
TPTE	7179	broad.mit.edu	37	chr21	10969096	10969096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcactgataggtgacaccCgggctgctcctttaaattca	9	13	8	11	1	2	2	2	2	0	0	3	2	3	2	2	2	1	2	2	2	3	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr21:10969096C>A	ENST00000361285.4	-	7	481	c.152G>T	c.(151-153)cGg>cTg	p.R51L	TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Intron	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	51					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGTGACACCCGGGCTGCTCC	0.453													11	143					6.81908e-15	8.04651e-15	1	0	A	10969096	C	A	10969096	3	1	372	1	0	0	0	0	1	0	0	0	16525	652	23	3	1575	3	TPTE	21	10969096	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08		10969096	37160799	141	71872											
CRYBA4	1413	broad.mit.edu	37	chr22	27019213	27019213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagatggtggtgtgggatGaggacggcttccagggccgg	7	7	19	8	2	0	2	0	1	0	1	1	4	1	4	2	7	0	1	2	7	0	1	rs148346157		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr22:27019213G>A	ENST00000354760.3	+	3	90	c.55G>A	c.(55-57)Gag>Aag	p.E19K	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	19	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGTGTGGGATGAGGACGGCTT	0.607													6	113					0	0	0	0	A	27019213	G	A	27019213	3	1	372	1	0	0	0	0	1	0	0	0	3939	1291	45	2	61	2	CRYBA4	22	27019213	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08		27019213	24285353	142	71873											
CHEK2	11200	broad.mit.edu	37	chr22	29091842	29091842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtctctcccaaaatcttgGagtgcccaaaatcagtaatc	13	10	7	11	0	3	0	1	0	2	0	6	1	4	1	2	2	1	1	2	2	5	2	rs147877722		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr22:29091842G>A	ENST00000544772.1	-	12	1888	c.452C>T	c.(451-453)tCc>tTc	p.S151F	CHEK2_ENST00000328354.6_Missense_Mutation_p.S372F|CHEK2_ENST00000402731.1_Missense_Mutation_p.S343F|CHEK2_ENST00000382580.2_Missense_Mutation_p.S415F|CHEK2_ENST00000403642.1_Missense_Mutation_p.S281F|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.S343F|CHEK2_ENST00000404276.1_Missense_Mutation_p.S372F|CHEK2_ENST00000382578.1_Missense_Mutation_p.S281F|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.S372F	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CAAAATCTTGGAGTGCCCAAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					12	32					0	0	0	0	A	29091842	G	A	29091842	3	1	372	1	0	0	0	0	1	0	0	0	3364	1174	41	2	536	2	CHEK2	22	29091842	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	2072629	29091842	22212724	143	71874											
CNKSR2	22866	broad.mit.edu	37	chrX	21627482	21627482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctaccctgccaactcaGaaatgccacctgcaggatca	12	7	7	15	0	3	1	2	0	1	1	3	2	3	2	4	1	5	1	4	1	3	1			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:21627482G>T	ENST00000425654.2	+	19	2829	c.2349G>T	c.(2347-2349)caG>caT	p.Q783H	CNKSR2_ENST00000379510.3_Missense_Mutation_p.Q813H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.Q813H|CNKSR2_ENST00000543067.1_Missense_Mutation_p.Q764H	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	813					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TGCCAACTCAGAAATGCCACC	0.542													33	24					9.04072e-19	1.08858e-18	1	0	T	21627482	G	T	21627482	3	4	372	1	0	0	0	0	1	0	0	0	3637	933	33	2	2517	2	CNKSR2	23	21627482	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08		21627482	133643078	144	71875											
DGKK	139189	broad.mit.edu	37	chrX	50129580	50129580	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcctatcatacattaagTcactctatatagaaaggaag	16	11	7	7	0	3	2	2	1	1	1	3	3	3	3	1	1	2	0	1	1	8	6			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:50129580T>C	ENST00000376025.2	-	0	2182							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATACATTAAGTCACTCTATAT	0.488													10	13					0	0	0	0	C	50129580	T	C	50129580	1	2	372	0	1	0	0	0	0	0	0	0	4509	1667	58	5		5	DGKK	23	50129580	RNA	SNP	T	TCGA-D6-8569-01A-11D-2394-08	28502098	50129580	105140980	145	71876											
ARHGEF6	9459	broad.mit.edu	37	chrX	135750260	135750260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcttcaaaagcctccgCaccagcttttctaggtccct	7	13	7	14	1	2	0	1	0	1	0	4	0	4	0	4	1	3	4	4	1	3	5			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:135750260C>T	ENST00000250617.6	-	22	3464	c.2259G>A	c.(2257-2259)gtG>gtA	p.V753V	ARHGEF6_ENST00000370620.1_Silent_p.V599V|ARHGEF6_ENST00000370622.1_Silent_p.V599V|ARHGEF6_ENST00000535227.1_Silent_p.V626V	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	753					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AAAGCCTCCGCACCAGCTTTT	0.433													52	18					0	0	0	0	T	135750260	C	T	135750260	2	4	372	1	0	0	0	0	0	0	0	1	912	697	25	4		4	ARHGEF6	23	135750260	Silent	SNP	C	TCGA-D6-8569-01A-11D-2394-08	85620680	135750260	19520300	146	71877											
CXorf66	347487	broad.mit.edu	37	chrX	139038215	139038215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaatctaacttacgaaagGacctggaagaggacttgact	14	9	11	7	1	1	2	0	1	1	1	1	7	1	6	1	4	2	0	1	4	5	3			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:139038215G>T	ENST00000370540.1	-	3	949	c.926C>A	c.(925-927)tCc>tAc	p.S309Y		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	309						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						CTTACGAAAGGACCTGGAAGA	0.378													54	37					9.52127e-25	1.18681e-24	1	0	T	139038215	G	T	139038215	3	4	372	1	0	0	0	0	1	0	0	0	4150	1174	41	2	163	2	CXorf66	23	139038215	Missense_Mutation	SNP	G	TCGA-D6-8569-01A-11D-2394-08	3287955	139038215	16232345	147	71878											
FLNA	2316	broad.mit.edu	37	chrX	153591107	153591107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttggctactccggggcCgtatactttgaccttgttgg	4	15	12	10	2	1	1	0	1	1	0	2	1	2	1	3	4	2	3	3	4	3	7			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:153591107C>T	ENST00000422373.1	-	16	2574	c.2326G>A	c.(2326-2328)Ggc>Agc	p.G776S	FLNA_ENST00000369850.3_Missense_Mutation_p.G776S|FLNA_ENST00000360319.4_Missense_Mutation_p.G776S|FLNA_ENST00000344736.4_Missense_Mutation_p.G776S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	776					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTCCGGGGCCGTATACTTTG	0.637													6	6					0	0	0	0	T	153591107	C	T	153591107	3	4	372	1	0	0	0	0	1	0	0	0	5978	652	23	1	5749	1	FLNA	23	153591107	Missense_Mutation	SNP	C	TCGA-D6-8569-01A-11D-2394-08	14552892	153591107	1679453	148	71879											
FLNA	2316	broad.mit.edu	37	chrX	153595205	153595205	+	Frame_Shift_Del	DEL	T	T	-																															cgcttcttcaccatgttgccTgtgggctcgatgcctggcag																										TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:153595205delT	ENST00000422373.1	-	6	1130	c.882delA	c.(880-882)acfs	p.T294fs	FLNA_ENST00000360319.4_Frame_Shift_Del_p.T294fs|FLNA_ENST00000369850.3_Frame_Shift_Del_p.T294fs|FLNA_ENST00000344736.4_Frame_Shift_Del_p.T294fs	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	294					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCATGTTGCCTGTGGGCTCGA	0.657													26	16	---	---	---	---					-	153595205	T	-	153595205	7	5	372	1	0	1	0	1	0	0	0	0	5978	1567	55	0	7233	0	FLNA	23	153595205	Frame_Shift_Del	DEL	T	TCGA-D6-8569-01A-11D-2394-08	4098	153595205	1675355	149	71880											
HNRNPR	10236	broad.mit.edu	37	chr1	23637080	23637080	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaaccccagttctgttggTtgttggtctgacgacgcttg	5	13	14	9	2	2	1	0	1	2	0	2	3	2	2	2	3	1	5	2	3	1	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:23637080T>A	ENST00000478691.1	-	10	1746	c.1475A>T	c.(1474-1476)aAc>aTc	p.N492I	HNRNPR_ENST00000302271.6_Missense_Mutation_p.N590I|HNRNPR_ENST00000426846.2_Missense_Mutation_p.N430I|HNRNPR_ENST00000427764.2_Missense_Mutation_p.N552I|HNRNPR_ENST00000606561.1_Missense_Mutation_p.N451I|HNRNPR_ENST00000374612.1_Missense_Mutation_p.N590I|HNRNPR_ENST00000374616.3_Missense_Mutation_p.N593I|HNRNPR_ENST00000476660.1_5'UTR	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	590	3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GTTCTGTTGGTTGTTGGTCTG	0.522													52	137					0	0	0	0	A	23637080	T	A	23637080	3	1	373	1	0	0	0	0	1	0	0	0	7322	1725	60	5	136	5	HNRNPR	1	23637080	Missense_Mutation	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08		23637080	225613541	1	71881											
FCN3	8547	broad.mit.edu	37	chr1	27695795	27695795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaggcccagtcaatgcCatatttgtgggcggcagcct	7	9	13	12	1	1	1	1	1	0	0	1	1	1	1	4	3	2	1	4	3	2	2			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:27695795C>T	ENST00000270879.4	-	8	837	c.832G>A	c.(832-834)Ggc>Agc	p.G278S	FCN3_ENST00000354982.2_Missense_Mutation_p.G267S	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	278	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CAGTCAATGCCATATTTGTGG	0.577													18	75					0	0	0	0	T	27695795	C	T	27695795	3	4	373	1	0	0	0	0	1	0	0	0	5838	594	21	4	71	4	FCN3	1	27695795	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	4058715	27695795	221554826	2	71882											
PPP1R8	5511	broad.mit.edu	37	chr1	28176681	28176681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcagaactttgccttcagCggaggactctacgggggcct	8	9	13	11	2	2	1	1	0	1	1	2	3	2	3	2	4	5	1	2	4	2	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:28176681C>T	ENST00000373931.4	+	7	1149	c.354C>T	c.(352-354)agC>agT	p.S118S	PPP1R8_ENST00000486634.1_3'UTR|PPP1R8_ENST00000311772.5_Silent_p.S260S|PPP1R8_ENST00000236412.7_Silent_p.S36S	NM_138558.2	NP_612568.1	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	260	Interaction with CDC5L, SF3B1 and MELK.				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCCTTCAGCGGAGGACTCT	0.622													47	195					0	0	0	0	T	28176681	C	T	28176681	2	4	373	1	0	0	0	0	0	0	0	1	12453	767	27	1		1	PPP1R8	1	28176681	Silent	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	480886	28176681	221073940	3	71883											
LEPR	3953	broad.mit.edu	37	chr1	66088607	66088607	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaatgaaaaagctattttgGgaagatgttccgaaccccaa	16	9	9	7	1	0	3	0	1	0	2	1	5	1	4	3	1	2	2	3	1	7	4			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:66088607G>A	ENST00000349533.6	+	19	2801	c.2616G>A	c.(2614-2616)tgG>tgA	p.W872*	LEPR_ENST00000344610.8_Nonsense_Mutation_p.W872*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Nonsense_Mutation_p.W872*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.W872*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.W872*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	872					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGCTATTTTGGGAAGATGTTC	0.348													9	21					0	0	0	0	A	66088607	G	A	66088607	4	1	373	1	0	0	0	0	0	1	0	0	8781	1241	43	4	2682	4	LEPR	1	66088607	Nonsense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	37911926	66088607	183162014	4	71884											
OLFM3	118427	broad.mit.edu	37	chr1	102296366	102296366	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttaagacttcaatagaCtgggacatgttctgaacctg	13	12	9	7	0	2	3	1	1	1	2	2	4	2	4	1	1	1	2	1	1	5	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:102296366C>T	ENST00000370103.4	-	3	447	c.234G>A	c.(232-234)caG>caA	p.Q78Q	OLFM3_ENST00000536598.1_Silent_p.Q3Q|OLFM3_ENST00000338858.5_Silent_p.Q98Q|OLFM3_ENST00000359814.3_Silent_p.Q98Q|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	98						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CTTCAATAGACTGGGACATGT	0.353													9	46					0	0	0	0	T	102296366	C	T	102296366	2	4	373	1	0	0	0	0	0	0	0	1	10925	564	20	4		4	OLFM3	1	102296366	Silent	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	36207759	102296366	146954255	5	71885											
RSBN1	54665	broad.mit.edu	37	chr1	114308737	114308737	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgcaggtgggaaagaTgatgaagcagttgttaacag	13	10	14	4	0	1	4	0	3	1	1	1	5	1	5	0	2	3	4	0	2	3	2			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:114308737T>A	ENST00000261441.5	-	7	2337	c.2274A>T	c.(2272-2274)tcA>tcT	p.S758S		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	758						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGGAAAGATGATGAAGCAG	0.418													29	82					0	0	0	0	A	114308737	T	A	114308737	2	1	373	1	0	0	0	0	0	0	0	1	13781	1451	51	5		5	RSBN1	1	114308737	Silent	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08	12012371	114308737	134941884	6	71886											
CKS1B	1163	broad.mit.edu	37	chr1	154951209	154951210	+	Frame_Shift_Ins	INS	-	-	T																															cactctttcagaacctcacaINStcttgctgttccggcgccca																										TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:154951209_154951210insT	ENST00000368439.1	+	3	397_398	c.148_149insT	c.(148-150)cttfs	p.L50fs	CKS1B_ENST00000308987.5_Frame_Shift_Ins_p.L66fs|CKS1B_ENST00000471245.1_3'UTR			P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	66					cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGAACCTCACATCTTGCTGTTC	0.465													8	21	---	---	---	---					T	154951210	-	T	154951209	7	5	373	1	0	1	1	0	0	0	0	0	3482	217	8	0	206	0	CKS1B	1	154951209	Frame_Shift_Ins	INS	-	TCGA-D6-A4Z9-01A-11D-A25D-08	40642472	154951209	94299412	7	71887											
GON4L	54856	broad.mit.edu	37	chr1	155735634	155735637	+	Frame_Shift_Del	DEL	GCCA	GCCA	-																															ataggaagattcacagaattGccagaaacaattaagggtga																										TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:155735634_155735637delGCCA	ENST00000437809.1	-	21	3749_3752	c.3627_3630delTGGC	c.(3625-3630)tcfs	p.SG1209fs	GON4L_ENST00000368331.1_Frame_Shift_Del_p.SG1209fs|GON4L_ENST00000361040.5_Frame_Shift_Del_p.SG1209fs|GON4L_ENST00000271883.5_Frame_Shift_Del_p.SG1209fs|GON4L_ENST00000471341.1_5'UTR			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1209					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCACAGAATTGCCAGAAACAATTA	0.49													9	60	---	---	---	---					-	155735637	GCCA	-	155735634	7	5	373	1	0	1	0	1	0	0	0	0	6620	1306	46	0	3257	0	GON4L	1	155735634	Frame_Shift_Del	DEL	GCCA	TCGA-D6-A4Z9-01A-11D-A25D-08	784425	155735634	93514987	8	71888											
SPTA1	6708	broad.mit.edu	37	chr1	158648221	158648221	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gttgtaagtttgcagcattgGacagagctttctgtctctgg	7	15	12	7	0	2	1	0	0	2	1	3	2	2	2	0	2	3	6	0	2	1	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:158648221G>C	ENST00000368148.3	-	6	962	c.782C>G	c.(781-783)tCc>tGc	p.S261C	SPTA1_ENST00000368147.3_Missense_Mutation_p.S261C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	261			S -> P (in EL2).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCAGCATTGGACAGAGCTTT	0.438													9	57					0	0	0	0	C	158648221	G	C	158648221	3	2	373	1	0	0	0	0	1	0	0	0	15206	1174	41	2	6665	2	SPTA1	1	158648221	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	2912587	158648221	90602400	9	71889											
FMO4	2329	broad.mit.edu	37	chr1	171303840	171303840	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcatcggccttatcggccTtaaaggatccatcttatcag	10	12	7	12	2	3	0	2	0	1	0	6	1	4	1	3	3	0	0	3	3	4	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:171303840T>G	ENST00000367749.3	+	8	1448	c.1118T>G	c.(1117-1119)cTt>cGt	p.L373R		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	373					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTTATCGGCCTTAAAGGATCC	0.438													15	57					0	0	0	0	G	171303840	T	G	171303840	3	3	373	1	0	0	0	0	1	0	0	0	6002	1609	56	5	1140	5	FMO4	1	171303840	Missense_Mutation	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08	12655619	171303840	77946781	10	71890											
LHX4	89884	broad.mit.edu	37	chr1	180199676	180199676	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctccgagatgatgcagagTgcgactgtccccgcggaagg	8	6	15	12	5	0	3	0	1	0	2	2	6	2	4	3	2	2	2	3	2	1	0			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:180199676T>C	ENST00000263726.2	+	1	256	c.12T>C	c.(10-12)agT>agC	p.S4S		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	4						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TGATGCAGAGTGCGACTGTCC	0.517													4	14					0	0	0	0	C	180199676	T	C	180199676	2	2	373	1	0	0	0	0	0	0	0	1	8827	1693	59	5		5	LHX4	1	180199676	Silent	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08	8895836	180199676	69050945	11	71891											
ZNF648	127665	broad.mit.edu	37	chr1	182026642	182026642	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagatactttccattgctGgggaagctgggtgggacatc	9	10	14	8	0	0	1	0	0	0	1	2	4	1	3	1	4	3	2	1	4	2	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:182026642G>T	ENST00000339948.3	-	2	711	c.504C>A	c.(502-504)ccC>ccA	p.P168P		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TTCCATTGCTGGGGAAGCTGG	0.567													7	29					0.000157383	0.000163579	1	0	T	182026642	G	T	182026642	2	4	373	1	0	0	0	0	0	0	0	1	18158	1335	47	4		4	ZNF648	1	182026642	Silent	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	1826966	182026642	67223979	12	71892											
HMCN1	83872	broad.mit.edu	37	chr1	186063420	186063420	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcaggattgtgagagcTcaggtgtctgatgtcgctgt	6	15	13	7	1	3	2	2	2	2	1	5	4	3	3	0	2	1	2	0	2	0	2			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:186063420T>C	ENST00000271588.4	+	67	10438	c.10209T>C	c.(10207-10209)gcT>gcC	p.A3403A	HMCN1_ENST00000367492.2_Silent_p.A3403A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3403	Ig-like C2-type 32.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGTGAGAGCTCAGGTGTCTG	0.388													9	39					0	0	0	0	C	186063420	T	C	186063420	2	2	373	1	0	0	0	0	0	0	0	1	7270	1538	54	5		5	HMCN1	1	186063420	Silent	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08	4036778	186063420	63187201	13	71893											
SLC26A9	115019	broad.mit.edu	37	chr1	205886433	205886433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctaagtcccagtagctgCgaatgtcctcctctgagtcg	7	11	10	13	2	2	1	0	1	2	0	6	2	5	1	3	0	2	3	3	0	3	2			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:205886433C>T	ENST00000367135.3	-	20	2419	c.2306G>A	c.(2305-2307)cGc>cAc	p.R769H	SLC26A9_ENST00000367134.2_Missense_Mutation_p.R769H|SLC26A9_ENST00000340781.4_Missense_Mutation_p.R769H	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	769						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCAGTAGCTGCGAATGTCCTC	0.577													57	153					0	0	0	0	T	205886433	C	T	205886433	3	4	373	1	0	0	0	0	1	0	0	0	14612	768	27	1	373	1	SLC26A9	1	205886433	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	19823013	205886433	43364188	14	71894											
CENPF	1063	broad.mit.edu	37	chr1	214816112	214816112	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcgttccatccctgtcAtcctcttgtgtgcctgacag	4	13	10	14	1	2	1	1	1	1	0	6	1	5	1	4	1	1	2	4	1	0	2			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:214816112A>G	ENST00000366955.3	+	12	4599	c.4431A>G	c.(4429-4431)tcA>tcG	p.S1477S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1573	2 X 96 AA approximate tandem repeats.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CATCCCTGTCATCCTCTTGTG	0.473													19	41					0	0	0	0	G	214816112	A	G	214816112	2	3	373	1	0	0	0	0	0	0	0	1	3260	204	8	5		5	CENPF	1	214816112	Silent	SNP	A	TCGA-D6-A4Z9-01A-11D-A25D-08	8929679	214816112	34434509	15	71895											
USH2A	7399	broad.mit.edu	37	chr1	216373122	216373122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgctagtacacgcctgtaCagaaaaatcgtacttggcaa	13	8	8	12	3	0	1	0	0	0	1	1	1	0	1	2	1	3	5	2	1	7	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:216373122C>A	ENST00000366943.2	-	17	4044	c.3658G>T	c.(3658-3660)Gta>Tta	p.V1220L	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.V1220L|USH2A_ENST00000366942.3_Missense_Mutation_p.V1220L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1220	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACGCCTGTACAGAAAAATCG	0.517										HNSCC(13;0.011)			13	62					0.00010058	0.000106212	1	0	A	216373122	C	A	216373122	3	1	373	1	0	0	0	0	1	0	0	0	17132	478	17	4	12188	4	USH2A	1	216373122	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	1557010	216373122	32877499	16	71896											
OR2G6	391211	broad.mit.edu	37	chr1	248685295	248685295	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagtgtattctcttggcCgtcatggcttatgaccgcta	6	15	10	10	2	3	2	1	2	2	0	4	2	3	2	2	2	0	3	2	2	3	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr1:248685295C>T	ENST00000343414.4	+	1	380	c.348C>T	c.(346-348)gcC>gcT	p.A116A		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTCTTGGCCGTCATGGCTT	0.557													4	75					0	0	0	0	T	248685295	C	T	248685295	2	4	373	1	0	0	0	0	0	0	0	1	11071	639	23	1		1	OR2G6	1	248685295	Silent	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	32312173	248685295	565326	17	71897											
BCL11A	53335	broad.mit.edu	37	chr2	60688664	60688664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaccacggacttgagcgcGctgctggcgctgcccaccaa	7	5	12	17	4	0	1	0	1	0	0	0	2	0	2	4	2	3	3	4	2	1	1			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr2:60688664G>A	ENST00000335712.6	-	4	1610	c.1383C>T	c.(1381-1383)agC>agT	p.S461S	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.S427S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Silent_p.S130S|BCL11A_ENST00000356842.4_Silent_p.S461S|BCL11A_ENST00000358510.4_Silent_p.S427S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	461					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACTTGAGCGCGCTGCTGGCGC	0.647			T	IGH@	B-CLL								6	22					0	0	0	0	A	60688664	G	A	60688664	2	1	373	1	0	0	0	0	0	0	0	1	1367	1078	38	1		1	BCL11A	2	60688664	Silent	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08		60688664	182510709	18	71898											
ASPRV1	151516	broad.mit.edu	37	chr2	70188289	70188289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggcaggtggctgggggCagccccagggaccccaaagg	7	5	18	11	0	0	0	0	0	0	0	0	1	0	1	4	7	1	3	4	7	1	1			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr2:70188289C>A	ENST00000320256.4	-	1	1108	c.532G>T	c.(532-534)Gcc>Tcc	p.A178S		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	178					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGGCTGGGGGCAGCCCCAGGG	0.587													19	40					1.33834e-09	1.48454e-09	1	0	A	70188289	C	A	70188289	3	1	373	1	0	0	0	0	1	0	0	0	1062	710	25	4	503	4	ASPRV1	2	70188289	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	9499625	70188289	173011084	19	71899											
MYO1B	4430	broad.mit.edu	37	chr2	192278879	192278879	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatcattgctgaagtcgtGaacaaaattaaccgtgctaa	15	11	7	8	2	2	2	2	2	0	0	3	2	2	2	1	0	4	2	1	0	6	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr2:192278879G>A	ENST00000392318.3	+	28	3226	c.2979G>A	c.(2977-2979)gtG>gtA	p.V993V	MYO1B_ENST00000392316.1_Silent_p.V964V|MYO1B_ENST00000439065.2_Silent_p.V238V|MYO1B_ENST00000304164.4_Silent_p.V993V|MYO1B_ENST00000339514.4_Silent_p.V935V	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	993						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CTGAAGTCGTGAACAAAATTA	0.393													30	85					0	0	0	0	A	192278879	G	A	192278879	2	1	373	1	0	0	0	0	0	0	0	1	10139	1277	45	2		2	MYO1B	2	192278879	Silent	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	122090590	192278879	50920494	20	71900											
DNAH7	56171	broad.mit.edu	37	chr2	196750966	196750966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagattcattaaggaccggaCcaagtttgtatcggaagtag	13	11	11	6	2	1	1	1	0	0	1	2	4	1	4	2	3	0	3	2	3	6	6			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr2:196750966C>T	ENST00000312428.6	-	34	5537	c.5437G>A	c.(5437-5439)Gtc>Atc	p.V1813I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1813					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGGACCGGACCAAGTTTGTA	0.333													5	38					0	0	0	0	T	196750966	C	T	196750966	3	4	373	1	0	0	0	0	1	0	0	0	4642	507	18	4	6765	4	DNAH7	2	196750966	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	4472087	196750966	46448407	21	71901											
NEU2	4759	broad.mit.edu	37	chr2	233898940	233898940	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcttcttcattgccatcCctgggcaagtcacggagcaa	8	11	8	14	1	4	0	2	0	2	0	6	1	6	1	3	2	2	2	3	2	2	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr2:233898940C>A	ENST00000233840.3	+	2	316	c.316C>A	c.(316-318)Cct>Act	p.P106T		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	106							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CATTGCCATCCCTGGGCAAGT	0.647													20	50					0.000132079	0.000138368	1	0	A	233898940	C	A	233898940	3	1	373	1	0	0	0	0	1	0	0	0	10412	623	22	4	322	4	NEU2	2	233898940	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	37147974	233898940	9300433	22	71902											
OGG1	4968	broad.mit.edu	37	chr3	9792851	9792851	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggttccgtggactcccacttCcaagaggtggctcagaaatt	9	10	11	11	1	1	2	1	0	0	2	4	3	4	3	3	4	0	2	3	4	2	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr3:9792851C>T	ENST00000302036.7	+	2	703	c.360C>T	c.(358-360)ttC>ttT	p.F120F	OGG1_ENST00000302008.8_Silent_p.F120F|OGG1_ENST00000349503.5_Silent_p.F120F|OGG1_ENST00000344629.7_Silent_p.F120F|OGG1_ENST00000339511.5_Silent_p.F120F|OGG1_ENST00000302003.7_Silent_p.F120F|OGG1_ENST00000383826.5_Silent_p.F120F|OGG1_ENST00000449570.2_Silent_p.F120F	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	120					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ACTCCCACTTCCAAGAGGTGG	0.547								Base excision repair (BER), DNA glycosylases					15	14					0	0	0	0	T	9792851	C	T	9792851	2	4	373	1	0	0	0	0	0	0	0	1	10916	854	30	2		2	OGG1	3	9792851	Silent	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08		9792851	188229579	23	71903											
DZIP1L	199221	broad.mit.edu	37	chr3	137822609	137822609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcggctgcacacctcccGgtccaagttgcagaaggtga	10	6	12	13	2	0	2	0	1	0	1	2	2	2	2	3	3	3	4	3	3	2	1			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr3:137822609G>A	ENST00000327532.2	-	2	567	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	DZIP1L_ENST00000469243.1_Missense_Mutation_p.R69W	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	69						intracellular	zinc ion binding	p.R69W(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CACACCTCCCGGTCCAAGTTG	0.617													9	55					0	0	0	0	A	137822609	G	A	137822609	3	1	373	1	0	0	0	0	1	0	0	0	4900	1115	39	1	2167	1	DZIP1L	3	137822609	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	128029758	137822609	60199821	24	71904											
FGFR3	2261	broad.mit.edu	37	chr4	1808391	1808391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccgcatggacaagcccGccaactgcacacacgacctg	11	3	9	18	3	0	0	0	0	0	0	0	2	0	1	5	1	3	2	5	1	2	0	rs17882190	byFrequency	TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr4:1808391G>A	ENST00000340107.4	+	16	2411	c.2155G>A	c.(2155-2157)Gcc>Acc	p.A719T	FGFR3_ENST00000440486.2_Missense_Mutation_p.A717T|FGFR3_ENST00000412135.2_Missense_Mutation_p.A605T|FGFR3_ENST00000352904.1_Missense_Mutation_p.A605T|FGFR3_ENST00000260795.2_Missense_Mutation_p.A717T|FGFR3_ENST00000481110.2_Missense_Mutation_p.R694H	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	717	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGACAAGCCCGCCAACTGCAC	0.692		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				3	32					0	0	0	0	A	1808391	G	A	1808391	3	1	373	1	0	0	0	0	1	0	0	0	5912	1087	38	1	2362	1	FGFR3	4	1808391	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08		1808391	189345885	25	71905											
TECRL	253017	broad.mit.edu	37	chr4	65274925	65274925	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaatgtttgactgctggagTtggtcttagagggcccgctg	6	13	15	7	1	1	3	0	2	1	1	1	4	1	4	1	3	1	4	1	3	2	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr4:65274925T>A	ENST00000381210.3	-	1	255	c.145A>T	c.(145-147)Act>Tct	p.T49S	TECRL_ENST00000507440.1_Missense_Mutation_p.T49S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	49					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ACTGCTGGAGTTGGTCTTAGA	0.368													17	29					0	0	0	0	A	65274925	T	A	65274925	3	1	373	1	0	0	0	0	1	0	0	0	15840	1725	60	5	994	5	TECRL	4	65274925	Missense_Mutation	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08	63466534	65274925	125879351	26	71906											
UGT2B28	54490	broad.mit.edu	37	chr4	70155439	70155439	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaggtctcaatactcggctGtataagtggataccccagaa	12	11	9	9	1	1	1	1	0	1	1	3	2	1	2	2	3	2	2	2	3	7	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr4:70155439G>T	ENST00000335568.5	+	4	1061	c.1059G>T	c.(1057-1059)ctG>ctT	p.L353L	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	353					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATACTCGGCTGTATAAGTGGA	0.373													18	77					1.02788e-11	1.17983e-11	1	0	T	70155439	G	T	70155439	2	4	373	1	0	0	0	0	0	0	0	1	17056	1364	48	4		4	UGT2B28	4	70155439	Silent	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	4880514	70155439	120998837	27	71907											
GLRB	2743	broad.mit.edu	37	chr4	158057730	158057730	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtggatccaacaatgtacaAgtgtttatggaaacctgatt	14	12	9	6	0	0	1	0	1	0	0	1	3	1	3	2	2	3	2	2	2	6	4			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr4:158057730A>C	ENST00000264428.4	+	5	677	c.407A>C	c.(406-408)aAg>aCg	p.K136T	GLRB_ENST00000541722.1_Missense_Mutation_p.K136T|GLRB_ENST00000509282.1_Missense_Mutation_p.K136T|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	136					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	ACAATGTACAAGTGTTTATGG	0.398													22	62					0	0	0	0	C	158057730	A	C	158057730	3	2	373	1	0	0	0	0	1	0	0	0	6509	72	3	5	421	5	GLRB	4	158057730	Missense_Mutation	SNP	A	TCGA-D6-A4Z9-01A-11D-A25D-08	87902291	158057730	33096546	28	71908											
SNX25	83891	broad.mit.edu	37	chr4	186272622	186272622	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttcagatgaaagactGtgtcagagtgaagcacttta	12	12	10	7	0	2	5	2	2	0	3	2	5	2	5	0	0	2	2	0	0	3	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr4:186272622G>C	ENST00000504273.1	+	14	2127	c.1833G>C	c.(1831-1833)ctG>ctC	p.L611L	SNX25_ENST00000512853.1_Intron|SNX25_ENST00000264694.8_Silent_p.L611L			Q9H3E2	SNX25_HUMAN	sorting nexin 25	611	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		ATGAAAGACTGTGTCAGAGTG	0.438													13	45					0	0	0	0	C	186272622	G	C	186272622	2	2	373	1	0	0	0	0	0	0	0	1	14984	1364	48	4		4	SNX25	4	186272622	Silent	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	28214892	186272622	4881654	29	71909											
FAT1	2195	broad.mit.edu	37	chr4	187540460	187540460	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgccagacagaatggaaTactgcaacttgtctatgtct	12	12	8	9	0	2	2	0	0	2	2	2	3	2	3	1	1	4	1	1	1	5	4			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr4:187540460T>C	ENST00000441802.2	-	10	7489	c.7280A>G	c.(7279-7281)tAt>tGt	p.Y2427C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2427	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGAATGGAATACTGCAACTT	0.458										HNSCC(5;0.00058)			14	34					0	0	0	0	C	187540460	T	C	187540460	3	2	373	1	0	0	0	0	1	0	0	0	5734	1406	49	5	6558	5	FAT1	4	187540460	Missense_Mutation	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08	1267838	187540460	3613816	30	71910											
KIAA0947	23379	broad.mit.edu	37	chr5	5464410	5464410	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccactgtctccactgataTcgagttctagtccttcctca	8	13	6	14	1	3	1	1	1	2	0	7	2	5	1	4	0	1	1	4	0	2	4			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr5:5464410T>C	ENST00000296564.7	+	13	5185	c.4963T>C	c.(4963-4965)Tcg>Ccg	p.S1655P		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1655	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCCACTGATATCGAGTTCTAG	0.567													36	140					0	0	0	0	C	5464410	T	C	5464410	3	2	373	1	0	0	0	0	1	0	0	0	8253	1435	50	5	5013	5	KIAA0947	5	5464410	Missense_Mutation	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08		5464410	175450850	31	71911											
RNF130	55819	broad.mit.edu	37	chr5	179405210	179405210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagttgacatacttgcaggGgagaattcggacgacatcat	13	9	12	7	2	1	2	1	1	0	1	2	6	1	3	0	3	2	2	0	3	3	4			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr5:179405210G>C	ENST00000522208.2	-	5	859	c.841C>G	c.(841-843)Ccc>Gcc	p.P281A	RNF130_ENST00000521389.1_Missense_Mutation_p.P281A|RNF130_ENST00000261947.4_Missense_Mutation_p.P281A			Q86XS8	GOLI_HUMAN	ring finger protein 130	281					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACTTGCAGGGGAGAATTCGG	0.413													13	53					0	0	0	0	C	179405210	G	C	179405210	3	2	373	1	0	0	0	0	1	0	0	0	13523	1232	43	4	438	4	RNF130	5	179405210	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	173940800	179405210	1510050	32	71912											
MICAL1	64780	broad.mit.edu	37	chr6	109770680	109770680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcacatcatacaggtctCgtacctaaggcagccccgct	10	8	8	15	2	2	0	1	0	1	0	3	0	2	0	3	2	4	4	3	2	4	4	rs143598372		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr6:109770680C>A	ENST00000368952.4	-	11	1786	c.1496G>T	c.(1495-1497)cGa>cTa	p.R499L	MICAL1_ENST00000358807.3_Missense_Mutation_p.R480L|MICAL1_ENST00000358577.3_Missense_Mutation_p.R394L			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	480					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ATACAGGTCTCGTACCTAAGG	0.617													15	67					6.31663e-08	6.94829e-08	1	0	A	109770680	C	A	109770680	3	1	373	1	0	0	0	0	1	0	0	0	9638	884	31	3	1824	3	MICAL1	6	109770680	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08		109770680	61344387	33	71913											
CTGF	1490	broad.mit.edu	37	chr6	132270603	132270603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtcggtacatactccaCagaatttagctcggtatgtc	9	11	10	11	3	0	1	0	0	0	1	4	1	1	1	2	3	3	3	2	3	5	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr6:132270603C>A	ENST00000367976.3	-	5	1051	c.851G>T	c.(850-852)tGt>tTt	p.C284F		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	284	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		ACATACTCCACAGAATTTAGC	0.527													61	183					1.08141e-31	1.29769e-31	1	0	A	132270603	C	A	132270603	3	1	373	1	0	0	0	0	1	0	0	0	4040	478	17	4	202	4	CTGF	6	132270603	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	22499923	132270603	38844464	34	71914											
KIF25	3834	broad.mit.edu	37	chr6	168440845	168440845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgcggattcctccaggtctCacctgataattacggtgact	9	11	9	12	3	1	2	1	2	1	0	4	3	3	3	3	3	1	0	3	3	2	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr6:168440845C>T	ENST00000443060.2	+	7	986	c.595C>T	c.(595-597)Cac>Tac	p.H199Y	KIF25_ENST00000351261.3_Missense_Mutation_p.H199Y|KIF25_ENST00000354419.2_Missense_Mutation_p.H199Y			Q9UIL4	KIF25_HUMAN	kinesin family member 25	199	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTCCAGGTCTCACCTGATAAT	0.557													15	29					0	0	0	0	T	168440845	C	T	168440845	3	4	373	1	0	0	0	0	1	0	0	0	8344	826	29	2	613	2	KIF25	6	168440845	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	36170242	168440845	2674222	35	71915											
CARD11	84433	broad.mit.edu	37	chr7	2969673	2969673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagagatccgcaggagctagGgctggcgtccgtgccttctt	6	9	14	12	3	1	1	0	0	1	1	3	3	3	2	3	3	2	3	3	3	1	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:2969673G>A	ENST00000396946.4	-	12	2009	c.1606C>T	c.(1606-1608)Cct>Tct	p.P536S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	536					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGGAGCTAGGGCTGGCGTCC	0.627			Mis		DLBCL								12	44					0	0	0	0	A	2969673	G	A	2969673	3	1	373	1	0	0	0	0	1	0	0	0	2670	1232	43	4	1914	4	CARD11	7	2969673	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08		2969673	156168990	36	71916											
SDK1	221935	broad.mit.edu	37	chr7	4091409	4091409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccgttctgtgcttcaccaCccctggggacgggcctccca	4	10	10	17	2	2	0	1	0	1	0	4	1	4	1	6	3	1	2	6	3	0	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:4091409C>T	ENST00000404826.2	+	19	2997	c.2858C>T	c.(2857-2859)aCc>aTc	p.T953I	SDK1_ENST00000389531.3_Missense_Mutation_p.T953I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	953	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCTTCACCACCCCTGGGGAC	0.527													26	80					0	0	0	0	T	4091409	C	T	4091409	3	4	373	1	0	0	0	0	1	0	0	0	14055	507	18	4	2932	4	SDK1	7	4091409	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	1121736	4091409	155047254	37	71917											
GLCCI1	113263	broad.mit.edu	37	chr7	8110672	8110672	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtagctgcagcagtcAttcaccctgtgtctcccctt	7	11	8	15	0	3	0	2	0	1	0	4	0	3	0	3	0	4	5	3	0	1	3	rs148958007		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:8110672A>G	ENST00000223145.5	+	6	1645	c.1088A>G	c.(1087-1089)cAt>cGt	p.H363R		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	363										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TGCAGCAGTCATTCACCCTGT	0.517													23	92					0	0	0	0	G	8110672	A	G	8110672	3	3	373	1	0	0	0	0	1	0	0	0	6482	217	8	5	1110	5	GLCCI1	7	8110672	Missense_Mutation	SNP	A	TCGA-D6-A4Z9-01A-11D-A25D-08	4019263	8110672	151027991	38	71918											
PCLO	27445	broad.mit.edu	37	chr7	82764191	82764191	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggctttggggactgttgaGgtgtggggacagtttggcca	6	11	19	5	0	0	1	0	1	0	0	0	4	0	3	1	7	0	3	1	7	0	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:82764191G>C	ENST00000423517.2	-	3	3012	c.2675C>G	c.(2674-2676)cCt>cGt	p.P892R	PCLO_ENST00000333891.8_Missense_Mutation_p.P892R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	838	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGACTGTTGAGGTGTGGGGAC	0.532													39	182					0	0	0	0	C	82764191	G	C	82764191	3	2	373	1	0	0	0	0	1	0	0	0	11654	1000	35	4	12862	4	PCLO	7	82764191	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	74653519	82764191	76374472	39	71919											
ASZ1	136991	broad.mit.edu	37	chr7	117067495	117067495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccagccactggcaggcctCgcagcgcgctcgccgccatg	5	4	13	19	6	0	0	0	0	0	0	2	0	0	0	5	2	2	3	5	2	0	0			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:117067495C>T	ENST00000284629.2	-	1	82	c.20G>A	c.(19-21)cGa>cAa	p.R7Q		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	7					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	p.R7Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TGGCAGGCCTCGCAGCGCGCT	0.697											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	49					0	0	0	0	T	117067495	C	T	117067495	3	4	373	1	0	0	0	0	1	0	0	0	1073	884	31	1	1459	1	ASZ1	7	117067495	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	34303304	117067495	42071168	40	71920											
GRM8	2918	broad.mit.edu	37	chr7	126746673	126746673	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaccatggcttgggcttGgtaggagtcaggcggaacca	8	8	15	10	1	1	0	1	0	0	0	2	2	2	2	3	6	1	3	3	6	2	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:126746673G>C	ENST00000339582.2	-	3	1412	c.604C>G	c.(604-606)Caa>Gaa	p.Q202E	GRM8_ENST00000444921.2_Missense_Mutation_p.Q202E|GRM8_ENST00000405249.1_Missense_Mutation_p.Q202E|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.Q202E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	202					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCTTGGGCTTGGTAGGAGTCA	0.512										HNSCC(24;0.065)			11	37					0	0	0	0	C	126746673	G	C	126746673	3	2	373	1	0	0	0	0	1	0	0	0	6853	1357	47	4	2208	4	GRM8	7	126746673	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	9679178	126746673	32391990	41	71921											
GRM8	2918	broad.mit.edu	37	chr7	126883110	126883110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcgtggacagggaagagaCcccccaaaataatgtcccca	13	6	10	12	1	0	1	0	0	0	1	1	4	1	3	5	2	1	0	5	2	4	2			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:126883110C>T	ENST00000339582.2	-	2	957	c.149G>A	c.(148-150)gGt>gAt	p.G50D	GRM8_ENST00000444921.2_Missense_Mutation_p.G50D|GRM8_ENST00000405249.1_Missense_Mutation_p.G50D|GRM8_ENST00000358373.3_Missense_Mutation_p.G50D			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	50					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGGGAAGAGACCCCCCAAAAT	0.517										HNSCC(24;0.065)			9	70					0	0	0	0	T	126883110	C	T	126883110	3	4	373	1	0	0	0	0	1	0	0	0	6853	507	18	4	2667	4	GRM8	7	126883110	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	136437	126883110	32255553	42	71922											
FLNC	2318	broad.mit.edu	37	chr7	128485310	128485310	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctggtgttgagccacacgGtgagtggacaggaggagcca	9	6	17	9	1	0	2	0	2	0	0	0	5	0	5	3	5	2	1	3	5	0	1			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:128485310G>A	ENST00000325888.8	+	21	4051		c.e21+1		FLNC_ENST00000346177.6_Splice_Site	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma						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						GAGCCACACGGTGAGTGGACA	0.622													3	17					0	0	0	0	A	128485310	G	A	128485310	5	1	373	1	0	0	0	0	0	0	1	0	5980	1275	44	4	3873	4	FLNC	7	128485310	Splice_Site	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	1602200	128485310	30653353	43	71923											
WDR60	55112	broad.mit.edu	37	chr7	158704239	158704239	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtttccaatttatttcaaAggatgcgaagtacaaaactg	14	14	7	6	1	1	0	1	0	0	0	2	2	2	1	1	1	3	2	1	1	7	6			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr7:158704239A>G	ENST00000407559.3	+	12	1618		c.e12-1			NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60											NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTTATTTCAAAGGATGCGAAG	0.333													4	20					0	0	0	0	G	158704239	A	G	158704239	5	3	373	1	0	0	0	0	0	0	1	0	17407	86	3	5	1505	5	WDR60	7	158704239	Splice_Site	SNP	A	TCGA-D6-A4Z9-01A-11D-A25D-08	30218929	158704239	434424	44	71924											
DOCK5	80005	broad.mit.edu	37	chr8	25222144	25222144	+	Frame_Shift_Del	DEL	T	T	-																															ggtgttttccttccgcagggTttttctccgtgctataaatc																										TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr8:25222144delT	ENST00000276440.7	+	30	3091	c.3047delT	c.(3046-3048)gtfs	p.V1016fs		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1016						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCCGCAGGGTTTTTCTCCGT	0.418													2	4	---	---	---	---					-	25222144	T	-	25222144	7	5	373	1	0	1	0	1	0	0	0	0	4726	1725	60	0	3165	0	DOCK5	8	25222144	Frame_Shift_Del	DEL	T	TCGA-D6-A4Z9-01A-11D-A25D-08		25222144	121141878	45	71925											
BAG4	9530	broad.mit.edu	37	chr8	38050240	38050240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctagctacaattctaactAttggaattctactgcgagat	12	14	6	9	1	2	1	0	0	2	1	3	3	3	2	1	1	5	1	1	1	7	8			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr8:38050240A>G	ENST00000287322.4	+	2	576	c.305A>G	c.(304-306)tAt>tGt	p.Y102C	BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Intron	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	102					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				AATTCTAACTATTGGAATTCT	0.353													14	49					0	0	0	0	G	38050240	A	G	38050240	3	3	373	1	0	0	0	0	1	0	0	0	1293	449	16	5	311	5	BAG4	8	38050240	Missense_Mutation	SNP	A	TCGA-D6-A4Z9-01A-11D-A25D-08	12828096	38050240	108313782	46	71926											
ZFHX4	79776	broad.mit.edu	37	chr8	77618518	77618518	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgttcagaatctccaaaAtggcaatggtgagcaggtgt	13	10	11	7	0	2	2	1	1	1	1	3	2	2	2	1	3	1	3	1	3	5	1			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr8:77618518A>T	ENST00000521891.2	+	2	2643	c.2195A>T	c.(2194-2196)aAt>aTt	p.N732I	ZFHX4_ENST00000050961.6_Missense_Mutation_p.N732I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N732I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N732I|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	732						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATCTCCAAAATGGCAATGGT	0.517										HNSCC(33;0.089)			16	28					0	0	0	0	T	77618518	A	T	77618518	3	4	373	1	0	0	0	0	1	0	0	0	17730	101	4	5	2197	5	ZFHX4	8	77618518	Missense_Mutation	SNP	A	TCGA-D6-A4Z9-01A-11D-A25D-08	39568278	77618518	68745504	47	71927											
CDH17	1015	broad.mit.edu	37	chr8	95186135	95186135	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacagatgtggtatcacTgaaggaattctcactctggc	11	11	9	10	0	3	2	2	1	2	1	5	3	4	3	1	3	0	1	1	3	3	2			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr8:95186135T>G	ENST00000027335.3	-	7	797	c.673A>C	c.(673-675)Agt>Cgt	p.S225R	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.S225R	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	225	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTGGTATCACTGAAGGAATTC	0.438													19	84					0	0	0	0	G	95186135	T	G	95186135	3	3	373	1	0	0	0	0	1	0	0	0	3131	1580	55	5	1873	5	CDH17	8	95186135	Missense_Mutation	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08	17567617	95186135	51177887	48	71928											
GDF6	392255	broad.mit.edu	37	chr8	97157145	97157145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttgccatggcgactggcGaaggccgtgcgccgccgccg	4	5	16	16	8	0	0	0	0	0	0	0	2	0	0	5	3	2	1	5	3	1	1			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr8:97157145G>T	ENST00000287020.5	-	2	1113	c.1014C>A	c.(1012-1014)ttC>ttA	p.F338L		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	338					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GGCGACTGGCGAAGGCCGTgc	0.746													9	17					2.17888e-05	2.33831e-05	1	0	T	97157145	G	T	97157145	3	4	373	1	0	0	0	0	1	0	0	0	6368	1049	37	3	357	3	GDF6	8	97157145	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	1971010	97157145	49206877	49	71929											
FREM1	158326	broad.mit.edu	37	chr9	14819319	14819319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccacccttccgtgcagaGgcaattcccgcagggagagg	8	6	13	14	2	0	2	0	0	0	2	3	3	3	2	4	3	1	4	4	3	1	2			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr9:14819319G>C	ENST00000380881.4	-	15	3277	c.2462C>G	c.(2461-2463)cCt>cGt	p.P821R	FREM1_ENST00000380880.3_Missense_Mutation_p.P820R|FREM1_ENST00000422223.2_Missense_Mutation_p.P820R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	820					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCCGTGCAGAGGCAATTCCCG	0.468													9	16					0	0	0	0	C	14819319	G	C	14819319	3	2	373	1	0	0	0	0	1	0	0	0	6092	1000	35	4	4226	4	FREM1	9	14819319	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08		14819319	126394112	50	71930											
ZNF189	7743	broad.mit.edu	37	chr9	104171678	104171678	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaaccccataaatgtgAtgaatgtggaaaggccttta	16	11	8	6	0	0	2	0	2	0	0	0	3	0	3	3	2	1	0	3	2	8	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr9:104171678A>T	ENST00000374861.3	+	3	1870	c.1586A>T	c.(1585-1587)gAt>gTt	p.D529V	ZNF189_ENST00000339664.2_Missense_Mutation_p.D543V|ZNF189_ENST00000259395.4_Missense_Mutation_p.D501V	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	543					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CATAAATGTGATGAATGTGGA	0.423													13	55					0	0	0	0	T	104171678	A	T	104171678	3	4	373	1	0	0	0	0	1	0	0	0	17849	333	12	5	1638	5	ZNF189	9	104171678	Missense_Mutation	SNP	A	TCGA-D6-A4Z9-01A-11D-A25D-08	89352359	104171678	37041753	51	71931											
GTPBP4	23560	broad.mit.edu	37	chr10	1056448	1056448	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctgattatattgatccAgccatcatgaaggtttgtgt	11	15	9	6	0	1	3	1	3	0	0	2	3	2	3	2	1	2	2	2	1	4	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr10:1056448A>T	ENST00000360803.4	+	13	1414	c.1332A>T	c.(1330-1332)ccA>ccT	p.P444P	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Silent_p.P328P|GTPBP4_ENST00000545048.1_Silent_p.P397P	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	444					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		ATATTGATCCAGCCATCATGA	0.353													7	53					0	0	0	0	T	1056448	A	T	1056448	2	4	373	1	0	0	0	0	0	0	0	1	6932	175	7	5		5	GTPBP4	10	1056448	Silent	SNP	A	TCGA-D6-A4Z9-01A-11D-A25D-08		1056448	134478299	52	71932											
NRG3	10718	broad.mit.edu	37	chr10	83635703	83635703	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacggccccgttcttcagtAgcagcacgctgggctcccga	6	7	11	17	4	2	0	1	0	1	0	3	1	3	0	4	2	2	6	4	2	1	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr10:83635703A>T	ENST00000404547.1	+	1	607	c.607A>T	c.(607-609)Agc>Tgc	p.S203C	NRG3_ENST00000372141.2_Missense_Mutation_p.S203C			P56975	NRG3_HUMAN	neuregulin 3	203	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GTTCTTCAGTAGCAGCACGCT	0.692													9	22					0	0	0	0	T	83635703	A	T	83635703	3	4	373	1	0	0	0	0	1	0	0	0	10720	420	15	5	609	5	NRG3	10	83635703	Missense_Mutation	SNP	A	TCGA-D6-A4Z9-01A-11D-A25D-08	82579255	83635703	51899044	53	71933											
PNLIP	5406	broad.mit.edu	37	chr10	118313298	118313298	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagcctgggtgcccaCgctgctggggaggctggaag	6	5	18	12	1	0	0	0	0	0	0	0	2	0	2	3	6	3	3	3	6	1	0	rs150321250		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr10:118313298C>T	ENST00000369221.2	+	6	547	c.519C>T	c.(517-519)caC>caT	p.H173H		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	173					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGGGTGCCCACGCTGCTGGGG	0.522													11	30					0	0	0	0	T	118313298	C	T	118313298	2	4	373	1	0	0	0	0	0	0	0	1	12221	535	19	1		1	PNLIP	10	118313298	Silent	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	34677595	118313298	17221449	54	71934											
SCGB1D4	404552	broad.mit.edu	37	chr11	62065047	62065047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtggattaagtttggCaacttggaggtttaccgcag	9	12	15	5	1	0	0	0	0	0	0	0	3	0	3	1	6	2	4	1	6	3	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr11:62065047C>A	ENST00000358585.1	-	2	192	c.139G>T	c.(139-141)Gcc>Tcc	p.A47S		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	47						extracellular region	binding			lung(1)|prostate(1)	2						TTAAGTTTGGCAACTTGGAGG	0.448													48	119					1.48734e-19	1.76872e-19	1	0	A	62065047	C	A	62065047	3	1	373	1	0	0	0	0	1	0	0	0	13984	710	25	4	120	4	SCGB1D4	11	62065047	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08		62065047	72941469	55	71935											
RBM14	10432	broad.mit.edu	37	chr11	66394099	66394099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctataatgattacctgcGggcggctcagatgcactctg	8	11	10	12	2	2	2	1	1	1	1	3	2	3	2	2	2	3	2	2	2	3	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr11:66394099G>A	ENST00000310137.4	+	3	2109	c.1970G>A	c.(1969-1971)cGg>cAg	p.R657Q	RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000393979.3_3'UTR	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	657					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GATTACCTGCGGGCGGCTCAG	0.607													10	9					0	0	0	0	A	66394099	G	A	66394099	3	1	373	1	0	0	0	0	1	0	0	0	13197	1116	39	1	1980	1	RBM14	11	66394099	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	4329052	66394099	68612417	56	71936											
SPTBN2	6712	broad.mit.edu	37	chr11	66476402	66476402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccgagatgagccggccctCgcggggcgtgtagaccttct	5	8	15	13	5	1	3	0	1	1	2	3	4	2	3	4	3	1	1	4	3	1	2			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr11:66476402C>T	ENST00000533211.1	-	11	1493	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E388K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E388K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	388					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGCCGGCCCTCGCGGGGCGTG	0.617													18	49					0	0	0	0	T	66476402	C	T	66476402	3	4	373	1	0	0	0	0	1	0	0	0	15210	893	31	1	6122	1	SPTBN2	11	66476402	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	82303	66476402	68530114	57	71937											
CPT1A	1374	broad.mit.edu	37	chr11	68552417	68552417	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatggtagagccagaccttGaagtagcgtcctcgatggta	10	10	12	9	2	1	3	1	1	0	2	3	4	2	3	3	2	2	3	3	2	4	4			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr11:68552417G>A	ENST00000265641.5	-	10	1183	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	CPT1A_ENST00000376618.2_Silent_p.F343F|CPT1A_ENST00000540367.1_Silent_p.F343F|CPT1A_ENST00000539743.1_Silent_p.F343F	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	343			F -> V (in CPT1AD).		carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCCAGACCTTGAAGTAGCGTC	0.592													14	358					0	0	0	0	A	68552417	G	A	68552417	2	1	373	1	0	0	0	0	0	0	0	1	3861	1281	45	2		2	CPT1A	11	68552417	Silent	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	2076015	68552417	66454099	58	71938											
PIWIL4	143689	broad.mit.edu	37	chr11	94331061	94331061	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggattgtgccttcagaaaaaAtattaatgcaagaccacata	17	10	7	7	0	1	2	1	0	0	2	1	3	1	3	2	1	2	1	2	1	7	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr11:94331061A>C	ENST00000299001.6	+	11	1571	c.1360A>C	c.(1360-1362)Ata>Cta	p.I454L	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	454					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCAGAAAAAATATTAATGCA	0.388													11	24					0	0	0	0	C	94331061	A	C	94331061	3	2	373	1	0	0	0	0	1	0	0	0	12032	101	4	5	1402	5	PIWIL4	11	94331061	Missense_Mutation	SNP	A	TCGA-D6-A4Z9-01A-11D-A25D-08	25778644	94331061	40675455	59	71939											
CACNA1C	775	broad.mit.edu	37	chr12	2717711	2717711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgactcccacacggaaGacaagggccccatctacaac	13	4	7	17	2	1	1	0	0	1	1	3	3	2	2	4	2	2	0	4	2	4	1			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:2717711G>T	ENST00000399655.1	+	27	3656	c.3391G>T	c.(3391-3393)Gac>Tac	p.D1131Y	CACNA1C_ENST00000399649.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D1151Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D1156Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D1151Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D1131Y	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1151	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCACACGGAAGACAAGGGCCC	0.552													5	10					5.9392e-07	6.42602e-07	1	0	T	2717711	G	T	2717711	3	4	373	1	0	0	0	0	1	0	0	0	2565	942	33	2	3669	2	CACNA1C	12	2717711	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08		2717711	131134184	60	71940											
CACNA1C	775	broad.mit.edu	37	chr12	2721074	2721074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctcctgatgcagcactaCggccagagctgcctgttcaa	8	9	9	15	1	2	2	1	1	1	1	3	2	2	2	4	1	5	4	4	1	2	2			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:2721074C>T	ENST00000399655.1	+	29	3988	c.3723C>T	c.(3721-3723)taC>taT	p.Y1241Y	CACNA1C_ENST00000399649.1_Silent_p.Y1241Y|CACNA1C_ENST00000399629.1_Silent_p.Y1241Y|CACNA1C_ENST00000399644.1_Silent_p.Y1241Y|CACNA1C_ENST00000399601.1_Silent_p.Y1241Y|CACNA1C_ENST00000406454.3_Silent_p.Y1241Y|CACNA1C_ENST00000399591.1_Silent_p.Y1241Y|CACNA1C_ENST00000399621.1_Silent_p.Y1241Y|CACNA1C_ENST00000399641.1_Silent_p.Y1241Y|CACNA1C_ENST00000399603.1_Silent_p.Y1241Y|CACNA1C_ENST00000399606.1_Silent_p.Y1261Y|CACNA1C_ENST00000335762.5_Silent_p.Y1266Y|CACNA1C_ENST00000399597.1_Silent_p.Y1241Y|CACNA1C_ENST00000399617.1_Silent_p.Y1241Y|CACNA1C_ENST00000327702.7_Silent_p.Y1241Y|CACNA1C_ENST00000399634.1_Silent_p.Y1241Y|CACNA1C_ENST00000399637.1_Silent_p.Y1241Y|CACNA1C_ENST00000399595.1_Silent_p.Y1241Y|CACNA1C_ENST00000344100.3_Silent_p.Y1241Y|CACNA1C_ENST00000347598.4_Silent_p.Y1261Y|CACNA1C_ENST00000480911.1_Silent_p.Y1241Y|CACNA1C_ENST00000399638.1_Silent_p.Y1241Y|CACNA1C_ENST00000402845.3_Silent_p.Y1241Y	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1261					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCAGCACTACGGCCAGAGCT	0.577													9	15					0	0	0	0	T	2721074	C	T	2721074	2	4	373	1	0	0	0	0	0	0	0	1	2565	547	19	1		1	CACNA1C	12	2721074	Silent	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	3363	2721074	131130821	61	71941											
ABCC9	10060	broad.mit.edu	37	chr12	22012543	22012543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagacaatgttggtgttttGatacagcgctcgtgccacac	11	11	10	9	2	0	2	0	1	0	1	1	2	0	2	1	1	3	3	1	1	3	4			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:22012543G>C	ENST00000261200.4	-	20	2481	c.2482C>G	c.(2482-2484)Caa>Gaa	p.Q828E	ABCC9_ENST00000345162.2_Missense_Mutation_p.Q792E|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.Q828E	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	828	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.Q828*(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGGTGTTTTGATACAGCGCT	0.408													30	90					0	0	0	0	C	22012543	G	C	22012543	3	2	373	1	0	0	0	0	1	0	0	0	59	1299	45	2	2385	2	ABCC9	12	22012543	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	19291469	22012543	111839352	62	71942											
ERBB3	2065	broad.mit.edu	37	chr12	56490841	56490841	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttagcatatgctggccAttggcagcctggaccatgcc	7	11	10	13	0	1	0	0	0	1	0	2	1	1	1	4	3	4	3	4	3	2	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:56490841A>T	ENST00000267101.3	+	20	2727	c.2287A>T	c.(2287-2289)Att>Ttt	p.I763F	ERBB3_ENST00000553131.1_Missense_Mutation_p.I4F|ERBB3_ENST00000415288.2_Missense_Mutation_p.I704F|ERBB3_ENST00000450146.2_Missense_Mutation_p.I120F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	763	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TATGCTGGCCATTGGCAGCCT	0.537													13	50					0	0	0	0	T	56490841	A	T	56490841	3	4	373	1	0	0	0	0	1	0	0	0	5246	217	8	5	2496	5	ERBB3	12	56490841	Missense_Mutation	SNP	A	TCGA-D6-A4Z9-01A-11D-A25D-08	34478298	56490841	77361054	63	71943											
LRP1	4035	broad.mit.edu	37	chr12	57573659	57573659	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaagcagatcaatgtggcCcggctggatggctccttcaa	11	8	12	10	1	2	2	2	0	0	2	3	3	3	3	2	4	1	3	2	4	4	1			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:57573659C>A	ENST00000243077.3	+	30	5527	c.5061C>A	c.(5059-5061)gcC>gcA	p.A1687A		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1687					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCAATGTGGCCCGGCTGGATG	0.612													25	84					1.5548e-18	1.83244e-18	1	0	A	57573659	C	A	57573659	2	1	373	1	0	0	0	0	0	0	0	1	9015	610	22	4		4	LRP1	12	57573659	Silent	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	1082818	57573659	76278236	64	71944											
TRHDE	29953	broad.mit.edu	37	chr12	72680679	72680679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgtccacatattatttagCctgggcaatttgcaacttca	11	14	6	10	0	1	0	1	0	0	0	2	0	2	0	2	1	3	2	2	1	5	6			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:72680679C>G	ENST00000261180.4	+	2	1094	c.998C>G	c.(997-999)gCc>gGc	p.A333G		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	333					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TATTATTTAGCCTGGGCAATT	0.398													20	56					0	0	0	0	G	72680679	C	G	72680679	3	3	373	1	0	0	0	0	1	0	0	0	16574	739	26	4	1004	4	TRHDE	12	72680679	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	15107020	72680679	61171216	65	71945											
ALKBH2	121642	broad.mit.edu	37	chr12	109530356	109530356	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactcttggaaaatctcaTctgcctcagctttgccaaac	11	11	5	14	0	4	0	2	0	3	0	5	1	4	1	3	1	5	1	3	1	4	2			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:109530356T>A	ENST00000429722.2	-	2	599	c.236A>T	c.(235-237)gAt>gTt	p.D79V	ALKBH2_ENST00000343075.3_Missense_Mutation_p.D79V|ALKBH2_ENST00000440112.2_Missense_Mutation_p.D79V	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	79					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GAAAATCTCATCTGCCTCAGC	0.522								Direct reversal of damage					29	48					0	0	0	0	A	109530356	T	A	109530356	3	1	373	1	0	0	0	0	1	0	0	0	527	1435	50	5	561	5	ALKBH2	12	109530356	Missense_Mutation	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08	36849677	109530356	24321539	66	71946											
GOLGA3	2802	broad.mit.edu	37	chr12	133393134	133393134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggatgcttacacagttgcGtttcttgcataggaagactg	10	12	11	8	2	1	1	0	0	1	1	1	3	1	3	0	2	4	4	0	2	3	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr12:133393134G>A	ENST00000204726.3	-	3	956	c.398C>T	c.(397-399)aCg>aTg	p.T133M	GOLGA3_ENST00000545875.1_Missense_Mutation_p.T133M|GOLGA3_ENST00000450791.2_Missense_Mutation_p.T133M|GOLGA3_ENST00000537452.1_Missense_Mutation_p.T133M|GOLGA3_ENST00000456883.2_Missense_Mutation_p.T133M	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	133	Interaction with GOPC.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		ACACAGTTGCGTTTCTTGCAT	0.542													14	46					0	0	0	0	A	133393134	G	A	133393134	3	1	373	1	0	0	0	0	1	0	0	0	6605	1145	40	1	4324	1	GOLGA3	12	133393134	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	23862778	133393134	458761	67	71947											
ARF6	382	broad.mit.edu	37	chr14	50360513	50360513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgcggatcctcatgttggGcctggacgcggccggcaaga	8	7	15	11	4	1	1	1	0	0	1	2	3	2	3	3	5	1	2	3	5	2	1			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr14:50360513G>T	ENST00000298316.5	+	2	606	c.59G>T	c.(58-60)gGc>gTc	p.G20V		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	20					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					CTCATGTTGGGCCTGGACGCG	0.597													21	83					1.10513e-12	1.29095e-12	1	0	T	50360513	G	T	50360513	3	4	373	1	0	0	0	0	1	0	0	0	850	1203	42	4	61	4	ARF6	14	50360513	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08		50360513	56989027	68	71948											
CCDC88C	440193	broad.mit.edu	37	chr14	91763765	91763765	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcgcgttgttcagtgaggTtttcagctccttggtgtggg	3	15	15	8	2	2	1	2	1	0	0	3	1	3	1	1	3	2	4	1	3	0	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr14:91763765T>C	ENST00000389857.6	-	22	3936	c.3850A>G	c.(3850-3852)Acc>Gcc	p.T1284A		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1284					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTCAGTGAGGTTTTCAGCTCC	0.597													17	8					0	0	0	0	C	91763765	T	C	91763765	3	2	373	1	0	0	0	0	1	0	0	0	2892	1725	60	5	2272	5	CCDC88C	14	91763765	Missense_Mutation	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08	41403252	91763765	15585775	69	71949											
CPSF2	53981	broad.mit.edu	37	chr14	92609452	92609452	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catggtctttctgacttggcCcgtgtacctagccctaaagt	7	13	9	12	1	2	1	0	1	2	0	2	1	2	1	3	2	2	1	3	2	4	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr14:92609452C>G	ENST00000298875.4	+	9	1239	c.954C>G	c.(952-954)gcC>gcG	p.A318A		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	318					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CTGACTTGGCCCGTGTACCTA	0.418													40	30					0	0	0	0	G	92609452	C	G	92609452	2	3	373	1	0	0	0	0	0	0	0	1	3855	610	22	4		4	CPSF2	14	92609452	Silent	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	845687	92609452	14740088	70	71950											
SPG11	80208	broad.mit.edu	37	chr15	44878014	44878014	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatgtatccttcaaaatCtggcaaaggatgcaaagctt	14	11	9	7	0	2	0	1	0	1	0	3	2	3	2	1	3	2	4	1	3	5	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr15:44878014C>A	ENST00000261866.7	-	29	4957	c.4941G>T	c.(4939-4941)caG>caT	p.Q1647H	SPG11_ENST00000535302.2_Missense_Mutation_p.Q1647H|SPG11_ENST00000427534.2_Missense_Mutation_p.Q1647H|SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000558319.1_Missense_Mutation_p.Q1647H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1647					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCTTCAAAATCTGGCAAAGGA	0.358													26	69					1.17739e-12	1.3633e-12	1	0	A	44878014	C	A	44878014	3	1	373	1	0	0	0	0	1	0	0	0	15131	912	32	2	2438	2	SPG11	15	44878014	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08		44878014	57653378	71	71951											
GLDN	342035	broad.mit.edu	37	chr15	51687166	51687166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagatgtgtccaacgacGtgctcctggcaggtaagagg	11	7	15	8	2	0	2	0	0	0	2	2	4	2	2	2	4	2	3	2	4	3	1			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr15:51687166G>A	ENST00000335449.6	+	5	732	c.676G>A	c.(676-678)Gtg>Atg	p.V226M	GLDN_ENST00000396399.2_Missense_Mutation_p.V102M	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	226					cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GTCCAACGACGTGCTCCTGGC	0.587													6	15					0	0	0	0	A	51687166	G	A	51687166	3	1	373	1	0	0	0	0	1	0	0	0	6485	1145	40	1	694	1	GLDN	15	51687166	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	6809152	51687166	50844226	72	71952											
SLC28A1	9154	broad.mit.edu	37	chr15	85486699	85486699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagctgaagtcctcacgacGtttgccctctgtggatttgc	7	12	11	11	2	2	2	1	1	1	1	3	4	3	3	2	1	3	2	2	1	1	2	rs147715805		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr15:85486699G>A	ENST00000394573.1	+	16	1807	c.1605G>A	c.(1603-1605)acG>acA	p.T535T	SLC28A1_ENST00000537624.1_Silent_p.T535T|SLC28A1_ENST00000538177.1_Silent_p.T369T|SLC28A1_ENST00000286749.3_Silent_p.T535T|SLC28A1_ENST00000537216.1_Intron	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	535					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCCTCACGACGTTTGCCCTCT	0.552													13	28					0	0	0	0	A	85486699	G	A	85486699	2	1	373	1	0	0	0	0	0	0	0	1	14619	1132	40	1		1	SLC28A1	15	85486699	Silent	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	33799533	85486699	17044693	73	71953											
DCUN1D3	123879	broad.mit.edu	37	chr16	20871437	20871437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatccccgaggggttctctGttaggaagtttagccattgg	7	13	13	8	1	1	1	0	1	1	0	3	3	2	2	3	4	1	3	3	4	3	5	rs149680095		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr16:20871437G>A	ENST00000324344.3	-	3	971	c.686C>T	c.(685-687)aCa>aTa	p.T229I	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.T229I|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	229	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GGGGTTCTCTGTTAGGAAGTT	0.517													29	104					0	0	0	0	A	20871437	G	A	20871437	3	1	373	1	0	0	0	0	1	0	0	0	4347	1377	48	4	232	4	DCUN1D3	16	20871437	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08		20871437	69483316	74	71954											
KIAA0556	23247	broad.mit.edu	37	chr16	27751397	27751397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaagaacgtgaagctttaCgtcaacagaaacctcatctt	14	9	7	11	2	3	3	2	1	1	2	3	3	3	3	2	0	5	1	2	0	6	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr16:27751397C>T	ENST00000261588.4	+	15	1798	c.1779C>T	c.(1777-1779)taC>taT	p.Y593Y		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	593										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGAAGCTTTACGTCAACAGAA	0.438													15	74					0	0	0	0	T	27751397	C	T	27751397	2	4	373	1	0	0	0	0	0	0	0	1	8234	547	19	1		1	KIAA0556	16	27751397	Silent	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	6879960	27751397	62603356	75	71955											
SRCAP	10847	broad.mit.edu	37	chr16	30745264	30745264	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatcctaaaaaaggcaaatCagaagagaatgttgggggac	18	6	11	6	0	1	2	1	0	0	2	2	4	2	3	1	3	0	2	1	3	6	2			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr16:30745264C>G	ENST00000262518.4	+	30	6929	c.6544C>G	c.(6544-6546)Cag>Gag	p.Q2182E	SRCAP_ENST00000395059.2_Missense_Mutation_p.Q2120E|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q2024E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2182	Helicase C-terminal.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AAAGGCAAATCAGAAGAGAAT	0.463													13	19					0	0	0	0	G	30745264	C	G	30745264	3	3	373	1	0	0	0	0	1	0	0	0	15225	827	29	2	6654	2	SRCAP	16	30745264	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	2993867	30745264	59609489	76	71956											
SLC6A2	6530	broad.mit.edu	37	chr16	55729260	55729260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcgccatcttctccatcCttggttacatggcccatgaa	7	13	8	13	1	2	1	0	1	2	0	5	1	3	1	4	3	1	2	4	3	2	4			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr16:55729260C>T	ENST00000379906.2	+	7	1348	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F	SLC6A2_ENST00000566163.1_Missense_Mutation_p.L320F|SLC6A2_ENST00000414754.3_Missense_Mutation_p.L365F|SLC6A2_ENST00000568943.1_Missense_Mutation_p.L365F|SLC6A2_ENST00000567238.1_Missense_Mutation_p.L260F|SLC6A2_ENST00000219833.8_Missense_Mutation_p.L365F|SLC6A2_ENST00000561820.1_Missense_Mutation_p.L365F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	365					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTCTCCATCCTTGGTTACAT	0.587													12	56					0	0	0	0	T	55729260	C	T	55729260	3	4	373	1	0	0	0	0	1	0	0	0	14771	681	24	4	1210	4	SLC6A2	16	55729260	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	24983996	55729260	34625493	77	71957											
KCTD19	146212	broad.mit.edu	37	chr16	67337093	67337093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactcgatgagggccaccGtctcagccagccacagcagg	9	4	12	16	3	1	1	1	1	1	0	3	2	1	1	4	2	3	2	4	2	0	0			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr16:67337093G>A	ENST00000304372.5	-	4	654	c.599C>T	c.(598-600)aCg>aTg	p.T200M	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	200						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T200M(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GAGGGCCACCGTCTCAGCCAG	0.612													9	20					0	0	0	0	A	67337093	G	A	67337093	3	1	373	1	0	0	0	0	1	0	0	0	8159	1145	40	1	2233	1	KCTD19	16	67337093	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	11607833	67337093	23017660	78	71958											
JPH3	57338	broad.mit.edu	37	chr16	87723649	87723649	+	Frame_Shift_Del	DEL	G	G	-																															gacttccgcacccgaggttcGggccgcaagcagcccgggaa																										TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr16:87723649delG	ENST00000284262.2	+	4	1925	c.1683delG	c.(1681-1683)tcfs	p.S561fs	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	561					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCCGAGGTTCGGGCCGCAAGC	0.741													2	4	---	---	---	---					-	87723649	G	-	87723649	7	5	373	1	0	1	0	1	0	0	0	0	8015	1103	39	0	1697	0	JPH3	16	87723649	Frame_Shift_Del	DEL	G	TCGA-D6-A4Z9-01A-11D-A25D-08	20386556	87723649	2631104	79	71959											
CAMTA2	23125	broad.mit.edu	37	chr17	4875702	4875702	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctggcctggggccatgTcctccatagtcatctcagag	9	9	11	12	0	2	1	2	0	1	1	5	1	4	1	4	3	1	1	4	3	2	1	rs149983655	byFrequency	TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr17:4875702T>C	ENST00000361571.5	-	15	3041	c.2630A>G	c.(2629-2631)gAc>gGc	p.D877G	CAMTA2_ENST00000358183.4_Missense_Mutation_p.D878G|CAMTA2_ENST00000572543.1_Missense_Mutation_p.D883G|CAMTA2_ENST00000348066.3_Missense_Mutation_p.D878G|CAMTA2_ENST00000414043.3_Missense_Mutation_p.D901G|CAMTA2_ENST00000381311.5_Missense_Mutation_p.D880G	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	878					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGGGGCCATGTCCTCCATAGT	0.607													3	42					0	0	0	0	C	4875702	T	C	4875702	3	2	373	1	0	0	0	0	1	0	0	0	2639	1667	58	5	1057	5	CAMTA2	17	4875702	Missense_Mutation	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08		4875702	76319508	80	71960											
TP53	7157	broad.mit.edu	37	chr17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgtgctgtgactgcttgTagatggccatggcgcggacg	6	11	15	9	3	1	2	1	1	0	1	1	3	1	3	1	3	2	3	1	3	1	2	rs148924904		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACTGCTTGTAGATGGCCAT	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			29	23					0	0	0	0	C	7578442	T	C	7578442	3	2	373	1	0	0	0	0	1	0	0	0	16476	1638	57	5	810	5	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08	2702740	7578442	73616768	81	71961											
CHAD	1101	broad.mit.edu	37	chr17	48545748	48545748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggttgaccagcggggagaGcaacccccggggcagctcag	9	3	17	12	2	1	2	1	1	0	1	1	4	1	2	3	5	4	4	3	5	1	1			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr17:48545748G>A	ENST00000508540.1	-	1	579	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	ACSF2_ENST00000541920.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.L143F|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000502667.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	143					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGCGGGGAGAGCAACCCCCGG	0.632													17	54					0	0	0	0	A	48545748	G	A	48545748	3	1	373	1	0	0	0	0	1	0	0	0	3339	971	34	4	664	4	CHAD	17	48545748	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	40967306	48545748	32649462	82	71962											
GALNT1	2589	broad.mit.edu	37	chr18	33243770	33243770	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgttaggttagaagggtaAgtacttactgtggtcctgat	10	14	13	4	0	0	2	0	1	0	1	1	3	1	2	1	3	2	4	1	3	6	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr18:33243770A>G	ENST00000591081.1	+	2	409	c.318A>G	c.(316-318)taA>taG	p.*106*	GALNT1_ENST00000537549.1_Intron|GALNT1_ENST00000269195.5_Intron			Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	0					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TAGAAGGGTAAGTACTTACTG	0.323													31	42					0	0	0	0	G	33243770	A	G	33243770	2	3	373	1	0	0	0	0	0	0	0	1	6256	87	3	5		5	GALNT1	18	33243770	Silent	SNP	A	TCGA-D6-A4Z9-01A-11D-A25D-08		33243770	44833478	83	71963											
SALL3	27164	broad.mit.edu	37	chr18	76756969	76756969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtggagaaccccatggctCtcctagggggtgatgccctg	6	9	14	12	0	1	2	0	1	1	1	2	3	1	2	4	4	2	1	4	4	2	1			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr18:76756969C>G	ENST00000536229.3	+	3	3644	c.2935C>G	c.(2935-2937)Ctc>Gtc	p.L979V	SALL3_ENST00000575389.2_Missense_Mutation_p.L1112V|SALL3_ENST00000537592.2_Missense_Mutation_p.L1184V			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCCATGGCTCTCCTAGGGGG	0.602													13	26					0	0	0	0	G	76756969	C	G	76756969	3	3	373	1	0	0	0	0	1	0	0	0	13897	913	32	2	3560	2	SALL3	18	76756969	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	43513199	76756969	1320279	84	71964											
REXO1	57455	broad.mit.edu	37	chr19	1821533	1821533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacctgtaaggatggactGtgggcgattcgcttagggat	8	11	15	7	2	0	0	0	0	0	0	1	4	0	3	1	4	1	3	1	4	3	4			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr19:1821533G>A	ENST00000170168.4	-	5	2473	c.2379C>T	c.(2377-2379)caC>caT	p.H793H		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	793						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		AGGATGGACTGTGGGCGATTC	0.647													24	91					0	0	0	0	A	1821533	G	A	1821533	2	1	373	1	0	0	0	0	0	0	0	1	13323	1368	48	4		4	REXO1	19	1821533	Silent	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08		1821533	57307450	85	71965											
OR10H3	26532	broad.mit.edu	37	chr19	15852977	15852977	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactatagttttgcctccCttatctacctcaaacccaag	10	13	4	14	0	2	0	1	0	1	0	3	0	3	0	4	0	4	2	4	0	6	6			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr19:15852977C>G	ENST00000305892.1	+	1	775	c.775C>G	c.(775-777)Ctt>Gtt	p.L259V		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTTTGCCTCCCTTATCTACCT	0.502													26	94					0	0	0	0	G	15852977	C	G	15852977	3	3	373	1	0	0	0	0	1	0	0	0	10978	681	24	4	777	4	OR10H3	19	15852977	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	14031444	15852977	43276006	86	71966											
ZNF540	163255	broad.mit.edu	37	chr19	38104133	38104133	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagacaatattcacatctttAtcaacatcagaaaactcata	18	12	2	9	0	5	2	4	0	1	2	5	2	5	2	0	0	2	0	0	0	8	6			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr19:38104133A>G	ENST00000592533.1	+	5	2284	c.1952A>G	c.(1951-1953)tAt>tGt	p.Y651C	ZNF540_ENST00000343599.5_Missense_Mutation_p.Y651C|ZNF540_ENST00000316433.4_Missense_Mutation_p.Y651C|ZNF540_ENST00000589117.1_Missense_Mutation_p.Y619C	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACATCTTTATCAACATCAG	0.318													6	30					0	0	0	0	G	38104133	A	G	38104133	3	3	373	1	0	0	0	0	1	0	0	0	18070	449	16	5	1966	5	ZNF540	19	38104133	Missense_Mutation	SNP	A	TCGA-D6-A4Z9-01A-11D-A25D-08	22251156	38104133	21024850	87	71967											
ZNF235	9310	broad.mit.edu	37	chr19	44792818	44792818	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggttttctgtcctgtgTgaatactacgctgggtaaga	8	14	13	6	1	1	2	0	1	1	1	2	2	2	2	1	3	2	4	1	3	5	6			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr19:44792818T>C	ENST00000291182.4	-	5	872	c.770A>G	c.(769-771)cAc>cGc	p.H257R	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CTGTCCTGTGTGAATACTACG	0.388													12	53					0	0	0	0	C	44792818	T	C	44792818	3	2	373	1	0	0	0	0	1	0	0	0	17883	1696	59	5	1450	5	ZNF235	19	44792818	Missense_Mutation	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08	6688685	44792818	14336165	88	71968											
MCM8	84515	broad.mit.edu	37	chr20	5948132	5948132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagcaggtcggattccacGaacaatagaatgtgagcttg	14	8	12	7	2	0	3	0	1	0	2	2	5	1	4	1	2	3	2	1	2	5	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr20:5948132G>A	ENST00000378896.3	+	9	1303	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	MCM8_ENST00000378883.1_Missense_Mutation_p.R309Q|MCM8_ENST00000378886.2_Missense_Mutation_p.R309Q|MCM8_ENST00000265187.4_Missense_Mutation_p.R309Q	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	309					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CGGATTCCACGAACAATAGAA	0.393													21	56					0	0	0	0	A	5948132	G	A	5948132	3	1	373	1	0	0	0	0	1	0	0	0	9462	1058	37	1	956	1	MCM8	20	5948132	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08		5948132	57077388	89	71969											
BTBD3	22903	broad.mit.edu	37	chr20	11899106	11899106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagactaaaaagaagaaGatggctgctgatatattccc	16	10	9	6	0	0	6	0	2	0	4	1	6	1	6	1	1	1	2	1	1	8	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr20:11899106G>T	ENST00000405977.1	+	2	808	c.183G>T	c.(181-183)aaG>aaT	p.K61N	BTBD3_ENST00000378226.2_Missense_Mutation_p.K61N|BTBD3_ENST00000399006.2_5'UTR|BTBD3_ENST00000254977.3_5'UTR|RP4-742J24.2_ENST00000439529.1_RNA			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	61								p.K61K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AAAAGAAGAAGATGGCTGCTG	0.448													18	139					2.35188e-11	2.67628e-11	1	0	T	11899106	G	T	11899106	3	4	373	1	0	0	0	0	1	0	0	0	1553	933	33	2	185	2	BTBD3	20	11899106	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	5950974	11899106	51126414	90	71970											
CSRP2BP	57325	broad.mit.edu	37	chr20	18143347	18143347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctcaagaggctggaaGcttgtcccggtgctgttgcc	5	11	14	11	1	1	1	1	0	0	1	2	2	2	2	2	3	5	6	2	3	2	2			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr20:18143347G>A	ENST00000278816.2	+	7	2079	c.1429G>A	c.(1429-1431)Gct>Act	p.A477T	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.A349T|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.A477T|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.A476T			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	477					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GAGGCTGGAAGCTTGTCCCGG	0.517													21	60					0	0	0	0	A	18143347	G	A	18143347	3	1	373	1	0	0	0	0	1	0	0	0	4000	971	34	4	1451	4	CSRP2BP	20	18143347	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	6244241	18143347	44882173	91	71971											
DNTTIP1	116092	broad.mit.edu	37	chr20	44439738	44439738	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggaattgaaatcctttgtCctaccctcctggatggtgga	9	12	11	9	0	0	1	0	1	0	0	3	5	3	4	4	4	1	0	4	4	3	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr20:44439738C>T	ENST00000372622.3	+	13	962	c.894C>T	c.(892-894)gtC>gtT	p.V298V		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	298						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AATCCTTTGTCCTACCCTCCT	0.502													15	77					0	0	0	0	T	44439738	C	T	44439738	2	4	373	1	0	0	0	0	0	0	0	1	4717	842	30	2		2	DNTTIP1	20	44439738	Silent	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	26296391	44439738	18585782	92	71972											
ZNFX1	57169	broad.mit.edu	37	chr20	47886636	47886636	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaaaccctcgacatttctTagaaattccccagtggctga	11	11	6	13	1	2	2	1	1	1	1	4	3	3	2	3	1	1	1	3	1	3	3			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr20:47886636T>A	ENST00000396105.1	-	3	1959	c.1713A>T	c.(1711-1713)ctA>ctT	p.L571L	ZNFX1_ENST00000371754.4_Silent_p.L571L|ZNFX1_ENST00000371752.1_Silent_p.L571L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	571							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGACATTTCTTAGAAATTCCC	0.478													26	94					0	0	0	0	A	47886636	T	A	47886636	2	1	373	1	0	0	0	0	0	0	0	1	18298	1741	61	5		5	ZNFX1	20	47886636	Silent	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08	3446898	47886636	15138884	93	71973											
TPTE	7179	broad.mit.edu	37	chr21	10970031	10970031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctttcgcaggtgcctcctCggttgctcctttaaattcac	5	16	7	13	2	2	0	1	0	1	0	6	0	4	0	3	2	2	3	3	2	2	6			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr21:10970031C>T	ENST00000298232.7	-	6	464	c.97G>A	c.(97-99)Gag>Aag	p.E33K	TPTE_ENST00000342420.5_Missense_Mutation_p.E33K|TPTE_ENST00000361285.4_Missense_Mutation_p.E33K|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	33					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGTGCCTCCTCGGTTGCTCCT	0.393													6	115					0	0	0	0	T	10970031	C	T	10970031	3	4	373	1	0	0	0	0	1	0	0	0	16525	893	31	1	1634	1	TPTE	21	10970031	Missense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08		10970031	37159864	94	71974											
NF2	4771	broad.mit.edu	37	chr22	30051658	30051658	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacgcagagcaccgaggcCgagccaggtgaggcccattc	9	4	15	13	3	0	2	0	1	0	1	1	4	0	2	4	4	3	3	4	4	1	2			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr22:30051658C>T	ENST00000338641.4	+	6	1033	c.592C>T	c.(592-594)Cga>Tga	p.R198*	NF2_ENST00000403435.1_Nonsense_Mutation_p.R198*|NF2_ENST00000361452.4_Nonsense_Mutation_p.R157*|NF2_ENST00000353887.4_Nonsense_Mutation_p.R115*|NF2_ENST00000361676.4_Nonsense_Mutation_p.R156*|NF2_ENST00000347330.5_Intron|NF2_ENST00000403999.3_Nonsense_Mutation_p.R198*|NF2_ENST00000397789.3_Nonsense_Mutation_p.R198*|NF2_ENST00000413209.2_Intron|NF2_ENST00000334961.7_Nonsense_Mutation_p.R115*|NF2_ENST00000361166.4_Nonsense_Mutation_p.R198*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	198	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.R198*(3)|p.R198fs*4(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GCACCGAGGCCGAGCCAGGTG	0.398			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				16	23					0	0	0	0	T	30051658	C	T	30051658	4	4	373	1	0	0	0	0	0	1	0	0	10427	644	23	1	614	1	NF2	22	30051658	Nonsense_Mutation	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08		30051658	21252908	95	71975											
MAPK12	6300	broad.mit.edu	37	chr22	50694559	50694559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatgacctcgggagcccGgtaccaccgggtcaccacgt	9	5	12	15	4	1	2	1	1	0	1	2	3	1	3	5	3	2	1	5	3	2	1	rs147362308		TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chr22:50694559G>A	ENST00000215659.8	-	7	889	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Missense_Mutation_p.R102W	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	192	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCGGGAGCCCGGTACCACCGG	0.602													13	43					0	0	0	0	A	50694559	G	A	50694559	3	1	373	1	0	0	0	0	1	0	0	0	9343	1115	39	1	553	1	MAPK12	22	50694559	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08	20642901	50694559	610007	96	71976											
BEND2	139105	broad.mit.edu	37	chrX	18220055	18220055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgtttgctggtctttctgGcatttctgtaaataaaaagt	9	17	9	6	0	3	0	0	0	3	0	3	0	3	0	0	2	1	5	0	2	5	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chrX:18220055G>A	ENST00000380033.4	-	6	1045	c.913C>T	c.(913-915)Cca>Tca	p.P305S	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	305										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGTCTTTCTGGCATTTCTGTA	0.343													9	16					0	0	0	0	A	18220055	G	A	18220055	3	1	373	1	0	0	0	0	1	0	0	0	1402	1203	42	4	1548	4	BEND2	23	18220055	Missense_Mutation	SNP	G	TCGA-D6-A4Z9-01A-11D-A25D-08		18220055	137050505	97	71977											
CXorf22	170063	broad.mit.edu	37	chrX	35966480	35966480	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacccatcctcatttttccAactagtggtatcgtggatgc	8	15	7	11	1	1	0	1	0	0	0	4	1	3	1	3	2	3	1	3	2	4	5			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chrX:35966480A>T	ENST00000297866.5	+	4	633	c.567A>T	c.(565-567)ccA>ccT	p.P189P		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	189										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCATTTTTCCAACTAGTGGTA	0.393													30	25					0	0	0	0	T	35966480	A	T	35966480	2	4	373	1	0	0	0	0	0	0	0	1	4134	117	5	5		5	CXorf22	23	35966480	Silent	SNP	A	TCGA-D6-A4Z9-01A-11D-A25D-08	17746425	35966480	119304080	98	71978											
NAP1L3	4675	broad.mit.edu	37	chrX	92927176	92927176	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgcctttattatataTgtcttcaccagcacctcatt	8	18	5	10	0	3	0	2	0	1	0	3	0	3	0	3	1	2	2	3	1	4	9			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chrX:92927176T>A	ENST00000373079.3	-	1	1391	c.1128A>T	c.(1126-1128)acA>acT	p.T376T	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	376					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTATTATATATGTCTTCACCA	0.408													8	14					0	0	0	0	A	92927176	T	A	92927176	2	1	373	1	0	0	0	0	0	0	0	1	10228	1451	51	5		5	NAP1L3	23	92927176	Silent	SNP	T	TCGA-D6-A4Z9-01A-11D-A25D-08	56960696	92927176	62343384	99	71979											
IGSF1	3547	broad.mit.edu	37	chrX	130412550	130412550	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgccaagggggaaggcagcCcggacctgctctgaggccgg	7	3	18	13	3	1	1	0	1	1	0	1	3	1	3	4	6	2	2	4	6	2	0			TCGA-D6-A4Z9-01A-11D-A25D-08	TCGA-D6-A4Z9-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3279137c-938d-4043-8aa7-f92d3acac353	f96baddb-030d-4c48-a806-399713ca18ac	g.chrX:130412550C>T	ENST00000370904.1	-	18	2809	c.1899G>A	c.(1897-1899)cgG>cgA	p.R633R	IGSF1_ENST00000361420.3_Silent_p.R642R|IGSF1_ENST00000370903.3_Silent_p.R647R|IGSF1_ENST00000370910.1_Silent_p.R633R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	642	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGAAGGCAGCCCGGACCTGCT	0.632													25	30					0	0	0	0	T	130412550	C	T	130412550	2	4	373	1	0	0	0	0	0	0	0	1	7649	610	22	4		4	IGSF1	23	130412550	Silent	SNP	C	TCGA-D6-A4Z9-01A-11D-A25D-08	37485374	130412550	24858010	100	71980											
UBE4B	10277	broad.mit.edu	37	chr1	10195049	10195049	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttcaactttcacagacaGatgatagattggtgtctaca	12	14	7	8	0	3	4	2	1	1	3	3	4	3	4	0	1	2	0	0	1	3	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:10195049G>C	ENST00000377157.3	+	15	2355	c.1294G>C	c.(1294-1296)Gat>Cat	p.D432H	UBE4B_ENST00000253251.8_Missense_Mutation_p.D548H|UBE4B_ENST00000343090.6_Missense_Mutation_p.D677H	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	677					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTCACAGACAGATGATAGATT	0.378													3	40					0	0	0	0	C	10195049	G	C	10195049	3	2	374	1	0	0	0	0	1	0	0	0	16979	942	33	2	2091	2	UBE4B	1	10195049	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08		10195049	239055572	1	71981											
PRAMEF11	440560	broad.mit.edu	37	chr1	12884817	12884817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattcaacagcagtattgatCtgcctccaggtcataaaatg	13	11	7	10	0	3	1	2	1	1	0	4	1	4	1	2	1	3	2	2	1	4	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:12884817C>T	ENST00000535591.1	-	4	1489	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	432										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CAGTATTGATCTGCCTCCAGG	0.458													33	119					0	0	0	0	T	12884817	C	T	12884817	3	4	374	1	0	0	0	0	1	0	0	0	12503	913	32	2	20	2	PRAMEF11	1	12884817	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	2689768	12884817	236365804	2	71982											
UBR4	23352	broad.mit.edu	37	chr1	19511697	19511697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttccagtggaggaggtggggGaggaggcggaggtgctgctt	6	8	22	5	1	0	0	0	0	0	0	1	5	1	5	1	9	2	2	1	9	0	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:19511697G>A	ENST00000375267.2	-	15	1837	c.1834C>T	c.(1834-1836)Ccc>Tcc	p.P612S	UBR4_ENST00000375254.3_Missense_Mutation_p.P612S|UBR4_ENST00000375217.2_Missense_Mutation_p.P612S|UBR4_ENST00000375226.2_Missense_Mutation_p.P612S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	612	Pro-rich.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGAGGTGGGGGAGGAGGCGGA	0.522													7	161					0	0	0	0	A	19511697	G	A	19511697	3	1	374	1	0	0	0	0	1	0	0	0	17000	1174	41	2	14085	2	UBR4	1	19511697	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	6626880	19511697	229738924	3	71983											
ZSCAN20	7579	broad.mit.edu	37	chr1	33957252	33957252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctggtcaatgttgagtctaCccaggggcccaggattgcag	8	9	13	11	0	2	1	1	1	1	0	2	2	2	2	3	4	2	2	3	4	2	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33957252C>T	ENST00000361328.3	+	6	1547	c.1394C>T	c.(1393-1395)aCc>aTc	p.T465I	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.T411I	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	465					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTTGAGTCTACCCAGGGGCCC	0.537													19	139					0	0	0	0	T	33957252	C	T	33957252	3	4	374	1	0	0	0	0	1	0	0	0	18324	507	18	4	1412	4	ZSCAN20	1	33957252	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	14445555	33957252	215293369	4	71984			1	111		9	8	3597	N	C	1.060455e-15
ZSCAN20	7579	broad.mit.edu	37	chr1	33959020	33959020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccacccaccagggacatgcCctttctatgaggaactggac	10	7	10	14	0	1	1	0	1	1	0	1	4	1	4	4	3	2	0	4	3	2	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33959020C>G	ENST00000361328.3	+	7	1831	c.1678C>G	c.(1678-1680)Cct>Gct	p.P560A		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	560					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGGGACATGCCCTTTCTATGA	0.597													9	100					0	0	0	0	G	33959020	C	G	33959020	3	3	374	1	0	0	0	0	1	0	0	0	18324	623	22	4	1700	4	ZSCAN20	1	33959020	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	1768	33959020	215291601	5	71985			1	111		9	8	3597	N	C	1.060455e-15
ZSCAN20	7579	broad.mit.edu	37	chr1	33960196	33960196	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaaactttagtgaccgctCtaacctcaatacccatcaga	16	9	4	12	1	3	2	2	1	1	1	3	2	3	2	3	0	3	1	3	0	7	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33960196C>G	ENST00000361328.3	+	8	2405	c.2252C>G	c.(2251-2253)tCt>tGt	p.S751C		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	751					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGTGACCGCTCTAACCTCAAT	0.458													7	94					0	0	0	0	G	33960196	C	G	33960196	3	3	374	1	0	0	0	0	1	0	0	0	18324	913	32	2	2278	2	ZSCAN20	1	33960196	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	1176	33960196	215290425	6	71986			1	111		9	8	3597	N	C	1.060455e-15
ZSCAN20	7579	broad.mit.edu	37	chr1	33960221	33960221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcaatacccatcagagaatCcacactggagagaagcccta	15	6	7	13	0	2	2	2	0	0	2	3	5	3	3	3	1	2	0	3	1	5	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33960221C>G	ENST00000361328.3	+	8	2430	c.2277C>G	c.(2275-2277)atC>atG	p.I759M		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	759					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATCAGAGAATCCACACTGGAG	0.453													9	94					0	0	0	0	G	33960221	C	G	33960221	3	3	374	1	0	0	0	0	1	0	0	0	18324	845	30	2	2303	2	ZSCAN20	1	33960221	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	25	33960221	215290400	7	71987			1	111		9	8	3597	N	C	1.060455e-15
ZSCAN20	7579	broad.mit.edu	37	chr1	33960364	33960364	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaagcttcaaccagagctCaaaccttctgaaacatcaga	17	7	6	11	0	4	3	3	1	1	2	4	4	4	3	2	0	5	2	2	0	5	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33960364C>G	ENST00000361328.3	+	8	2573	c.2420C>G	c.(2419-2421)tCa>tGa	p.S807*		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	807					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AACCAGAGCTCAAACCTTCTG	0.458													13	140					0	0	0	0	G	33960364	C	G	33960364	4	3	374	1	0	0	0	0	0	1	0	0	18324	838	29	2	2446	2	ZSCAN20	1	33960364	Nonsense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	143	33960364	215290257	8	71988			1	111		9	8	3597	N	C	1.060455e-15
ZSCAN20	7579	broad.mit.edu	37	chr1	33960504	33960504	+	Missense_Mutation	SNP	C	C	G																															agacagctcctgaacaacctCaaagtatcagtaaggacttg																										TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33960504C>G	ENST00000361328.3	+	8	2713	c.2560C>G	c.(2560-2562)Caa>Gaa	p.Q854E		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	854					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGAACAACCTCAAAGTATCAG	0.463													12	170					0	0	0	0	G	33960504	C	G	33960504	3	3	374	1	0	0	0	0	1	0	0	0	18324	827	29	2	2586	2	ZSCAN20	1	33960504	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	140	33960504	215290117	9	71989	984	2	1	111		9	8	3597	N	C	1.060455e-15
ZSCAN20	7579	broad.mit.edu	37	chr1	33960512	33960512	+	Silent	SNP	C	C	T																															cctgaacaacctcaaagtatCagtaaggacttgaattctcc																										TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33960512C>T	ENST00000361328.3	+	8	2721	c.2568C>T	c.(2566-2568)atC>atT	p.I856I		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	856					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCAAAGTATCAGTAAGGACT	0.468													13	169					0	0	0	0	T	33960512	C	T	33960512	2	4	374	1	0	0	0	0	0	0	0	1	18324	816	29	2		2	ZSCAN20	1	33960512	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	8	33960512	215290109	10	71990	984	2	1	111		9	8	3597	N	C	1.060455e-15
ZSCAN20	7579	broad.mit.edu	37	chr1	33960785	33960785	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgagcgctccaagctcatCacacaccagagagtgcacac	13	5	9	14	1	2	2	2	1	0	1	3	3	3	2	2	0	3	3	2	0	1	0			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33960785C>T	ENST00000361328.3	+	8	2994	c.2841C>T	c.(2839-2841)atC>atT	p.I947I		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	947					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCAAGCTCATCACACACCAGA	0.527													4	50					0	0	0	0	T	33960785	C	T	33960785	2	4	374	1	0	0	0	0	0	0	0	1	18324	816	29	2		2	ZSCAN20	1	33960785	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	273	33960785	215289836	11	71991			1	111		9	8	3597	N	C	1.060455e-15
ZSCAN20	7579	broad.mit.edu	37	chr1	33960848	33960848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgagtgtggaaaattcttCcgtgaccgttctaacctcat	9	14	8	10	2	3	2	1	2	2	0	4	3	4	3	3	1	1	1	3	1	3	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:33960848C>T	ENST00000361328.3	+	8	3057	c.2904C>T	c.(2902-2904)ttC>ttT	p.F968F		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	968					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAAAATTCTTCCGTGACCGTT	0.498													4	39					0	0	0	0	T	33960848	C	T	33960848	2	4	374	1	0	0	0	0	0	0	0	1	18324	854	30	2		2	ZSCAN20	1	33960848	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	63	33960848	215289773	12	71992			1	111		9	8	3597	N	C	1.060455e-15
CSMD2	114784	broad.mit.edu	37	chr1	34209162	34209162	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcctctgggtagttgggaGacaggacaaccccagacggg	10	6	15	10	1	1	2	0	0	1	2	2	4	2	3	3	4	1	2	3	4	2	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:34209162G>C	ENST00000373381.4	-	14	2068	c.1892C>G	c.(1891-1893)tCt>tGt	p.S631C		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	591	CUB 4.					integral to membrane|plasma membrane	protein binding	p.S591Y(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTAGTTGGGAGACAGGACAAC	0.572													8	60					0	0	0	0	C	34209162	G	C	34209162	3	2	374	1	0	0	0	0	1	0	0	0	3977	942	33	2	8915	2	CSMD2	1	34209162	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	248314	34209162	215041459	13	71993											
UTP11L	51118	broad.mit.edu	37	chr1	38484941	38484941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagttgaacagtttgatgtCgcaactcacctgcaaacagc	12	11	8	10	1	1	2	1	2	0	0	2	2	1	2	1	0	5	4	1	0	4	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:38484941C>T	ENST00000373014.4	+	6	514	c.453C>T	c.(451-453)gtC>gtT	p.V151V	UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	151					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGTTTGATGTCGCAACTCACC	0.453													8	103					0	0	0	0	T	38484941	C	T	38484941	2	4	374	1	0	0	0	0	0	0	0	1	17190	871	31	1		1	UTP11L	1	38484941	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	4275779	38484941	210765680	14	71994											
ROR1	4919	broad.mit.edu	37	chr1	64643788	64643788	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgggagattttcagtttTggactccagccatattatgg	8	16	11	6	0	1	1	1	0	0	1	2	3	2	2	2	3	1	1	2	3	2	7			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:64643788T>G	ENST00000371079.1	+	9	2439	c.2064T>G	c.(2062-2064)ttT>ttG	p.F688L	ROR1_ENST00000545203.1_Missense_Mutation_p.F139L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	688	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTTTCAGTTTTGGACTCCAGC	0.468													4	62					0	0	0	0	G	64643788	T	G	64643788	3	3	374	1	0	0	0	0	1	0	0	0	13611	1809	63	5	2106	5	ROR1	1	64643788	Missense_Mutation	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	26158847	64643788	184606833	15	71995											
C1orf173	127254	broad.mit.edu	37	chr1	75037532	75037532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggtcctcatccaccgcttCctccctgaacttttctgcca	5	13	6	17	1	2	1	1	1	1	0	6	1	6	1	6	1	2	1	6	1	1	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:75037532C>T	ENST00000326665.5	-	14	4080	c.3862G>A	c.(3862-3864)Gaa>Aaa	p.E1288K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1288	Glu-rich.									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						TCCACCGCTTCCTCCCTGAAC	0.567													5	126					0	0	0	0	T	75037532	C	T	75037532	3	4	374	1	0	0	0	0	1	0	0	0	2033	864	30	2	734	2	C1orf173	1	75037532	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	10393744	75037532	174213089	16	71996											
WDR63	126820	broad.mit.edu	37	chr1	85559220	85559220	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgcagaagaagaaggcAcctttggggacaagaccgat	14	5	12	10	2	0	4	0	0	0	4	1	6	0	5	3	3	0	2	3	3	4	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:85559220A>T	ENST00000294664.6	+	9	1117	c.937A>T	c.(937-939)Acc>Tcc	p.T313S	WDR63_ENST00000370596.1_Missense_Mutation_p.T274S|WDR63_ENST00000326813.8_Missense_Mutation_p.T274S	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	313										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AGAAGAAGGCACCTTTGGGGA	0.413													5	68					0	0	0	0	T	85559220	A	T	85559220	3	4	374	1	0	0	0	0	1	0	0	0	17410	159	6	5	967	5	WDR63	1	85559220	Missense_Mutation	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08	10521688	85559220	163691401	17	71997											
CCDC18	343099	broad.mit.edu	37	chr1	93698028	93698028	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agataaaaaatcacagtcttCaagagacttctgagcaaaac	19	8	6	8	0	4	3	2	1	2	2	4	4	4	3	0	0	2	1	0	0	6	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:93698028C>T	ENST00000343253.7	+	18	2837	c.2335C>T	c.(2335-2337)Caa>Taa	p.Q779*	CCDC18_ENST00000401026.3_Nonsense_Mutation_p.Q780*|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000338949.4_Nonsense_Mutation_p.Q535*|CCDC18_ENST00000334652.5_Nonsense_Mutation_p.Q75*|CCDC18_ENST00000557479.1_Nonsense_Mutation_p.Q898*			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	779										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCACAGTCTTCAAGAGACTTC	0.328													5	56					0	0	0	0	T	93698028	C	T	93698028	4	4	374	1	0	0	0	0	0	1	0	0	2820	827	29	2	2762	2	CCDC18	1	93698028	Nonsense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	8138808	93698028	155552593	18	71998											
BCAR3	8412	broad.mit.edu	37	chr1	94054673	94054673	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggggaggtgccataatgctCctccaggcaccgcagaggca	9	6	14	12	1	0	1	0	0	0	1	2	2	2	2	4	5	2	4	4	5	1	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:94054673C>G	ENST00000370244.1	-	7	1078	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	BCAR3_ENST00000370243.1_Missense_Mutation_p.E264Q|BCAR3_ENST00000260502.6_Missense_Mutation_p.E264Q|BCAR3_ENST00000370247.3_Missense_Mutation_p.E173Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	264					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CCATAATGCTCCTCCAGGCAC	0.672													3	20					0	0	0	0	G	94054673	C	G	94054673	3	3	374	1	0	0	0	0	1	0	0	0	1353	864	30	2	1719	2	BCAR3	1	94054673	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	356645	94054673	155195948	19	71999											
VCAM1	7412	broad.mit.edu	37	chr1	101203719	101203719	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatttttctcctgagcttctCgtgctctattttgcatcctc	4	20	5	12	1	3	1	0	1	3	0	7	1	4	1	2	0	3	3	2	0	2	7			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:101203719C>T	ENST00000294728.2	+	9	2201	c.2100C>T	c.(2098-2100)ctC>ctT	p.L700L	VCAM1_ENST00000370115.1_Silent_p.L501L|VCAM1_ENST00000347652.2_Silent_p.L608L|VCAM1_ENST00000370119.4_Silent_p.L638L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	700					heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.L700L(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTGAGCTTCTCGTGCTCTATT	0.338													20	109					0	0	0	0	T	101203719	C	T	101203719	2	4	374	1	0	0	0	0	0	0	0	1	17233	871	31	1		1	VCAM1	1	101203719	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	7149046	101203719	148046902	20	72000											
SPAG17	200162	broad.mit.edu	37	chr1	118534050	118534050	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctcaccataaccagcttGaggagatcagcagcattgcc	11	10	8	12	0	2	2	2	1	1	1	3	3	2	2	3	1	5	3	3	1	1	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:118534050G>C	ENST00000336338.5	-	37	5528	c.5463C>G	c.(5461-5463)ctC>ctG	p.L1821L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1821						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAACCAGCTTGAGGAGATCAG	0.363													3	30					0	0	0	0	C	118534050	G	C	118534050	2	2	374	1	0	0	0	0	0	0	0	1	15069	1277	45	2		2	SPAG17	1	118534050	Silent	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	17330331	118534050	130716571	21	72001											
SETDB1	9869	broad.mit.edu	37	chr1	150916415	150916415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctcattttctttgatGatggctatgcttcctatgtc	5	20	8	8	0	2	2	1	2	2	0	5	2	3	2	1	2	1	3	1	2	2	7			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:150916415G>T	ENST00000271640.5	+	8	1085	c.895G>T	c.(895-897)Gat>Tat	p.D299Y	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368962.2_Missense_Mutation_p.D299Y|SETDB1_ENST00000368969.4_Missense_Mutation_p.D299Y|SETDB1_ENST00000368963.1_Missense_Mutation_p.231_231insI	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	299	Tudor 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTTCTTTGATGATGGCTATGC	0.398													4	84					0.184627	0.186042	1	0	T	150916415	G	T	150916415	3	4	374	1	0	0	0	0	1	0	0	0	14225	1290	45	2	921	2	SETDB1	1	150916415	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	32382365	150916415	98334206	22	72002											
FLG	2312	broad.mit.edu	37	chr1	152282185	152282185	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtgtgtctgactcttctGagtgtccctcgctgtcactg	4	15	10	12	1	4	2	1	2	3	0	6	2	5	2	1	0	0	1	1	0	0	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:152282185G>T	ENST00000368799.1	-	3	5212	c.5177C>A	c.(5176-5178)tCa>tAa	p.S1726*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1726	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTCTTCTGAGTGTCCCTC	0.592									Ichthyosis				76	224					5.96624e-29	6.79274e-29	1	0	T	152282185	G	T	152282185	4	4	374	1	0	0	0	0	0	1	0	0	5967	1294	45	2	7012	2	FLG	1	152282185	Nonsense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	1365770	152282185	96968436	23	72003											
CLK2	1196	broad.mit.edu	37	chr1	155235737	155235737	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtatgtgtcagcttgttatCatggaggactgtaggggaga	9	13	15	4	0	2	1	2	0	0	1	2	4	2	3	0	4	1	4	0	4	3	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:155235737C>G	ENST00000368361.4	-	8	1162	c.847G>C	c.(847-849)Gat>Cat	p.D283H	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.D283H|CLK2_ENST00000355560.4_Missense_Mutation_p.D281H|CLK2_ENST00000361168.5_Missense_Mutation_p.D282H			P49760	CLK2_HUMAN	CDC-like kinase 2	283	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D283N(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCTTGTTATCATGGAGGACT	0.502								Other conserved DNA damage response genes					4	80					0	0	0	0	G	155235737	C	G	155235737	3	3	374	1	0	0	0	0	1	0	0	0	3567	826	29	2	676	2	CLK2	1	155235737	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	2953552	155235737	94014884	24	72004											
OR6N1	128372	broad.mit.edu	37	chr1	158735613	158735613	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcgcaagctgtagatgaagGggttgaggaagggtgtgagc	10	8	19	4	1	0	4	0	3	0	1	0	5	0	5	0	4	3	4	0	4	4	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:158735613G>C	ENST00000335094.2	-	1	879	c.860C>G	c.(859-861)cCc>cGc	p.P287R		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GTAGATGAAGGGGTTGAGGAA	0.522													11	129					0	0	0	0	C	158735613	G	C	158735613	3	2	374	1	0	0	0	0	1	0	0	0	11277	1232	43	4	81	4	OR6N1	1	158735613	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	3499876	158735613	90515008	25	72005											
PIGC	5279	broad.mit.edu	37	chr1	172411741	172411742	+	Frame_Shift_Ins	INS	-	-	A																															cacttgacctccttggtgttINSagtcacaggttgagcataca																										TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:172411741_172411742insA	ENST00000367728.1	-	1	1484_1485	c.21_22insT	c.(19-24)acacacfs	p.H8fs	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Frame_Shift_Ins_p.H8fs|PIGC_ENST00000258324.1_Frame_Shift_Ins_p.H8fs|PIGC_ENST00000484368.1_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	8					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TCCTTGGTGTTAGTCACAGGTT	0.455													7	144	---	---	---	---					A	172411742	-	A	172411741	7	5	374	1	0	1	1	0	0	0	0	0	11958	1754	61	0	875	0	PIGC	1	172411741	Frame_Shift_Ins	INS	-	TCGA-D6-A4ZB-01A-11D-A25D-08	13676128	172411741	76838880	26	72006											
RC3H1	149041	broad.mit.edu	37	chr1	173931010	173931010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagggctttctcggaatatCtcttctcttgtgtaagacgg	8	15	10	8	2	3	1	0	0	3	1	6	2	3	2	0	3	0	2	0	3	4	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:173931010C>G	ENST00000367696.2	-	12	2406	c.2055G>C	c.(2053-2055)gaG>gaC	p.E685D	RC3H1_ENST00000367694.2_Missense_Mutation_p.E685D|RC3H1_ENST00000258349.4_Missense_Mutation_p.E685D			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	685	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CTCGGAATATCTCTTCTCTTG	0.478													10	178					0	0	0	0	G	173931010	C	G	173931010	3	3	374	1	0	0	0	0	1	0	0	0	13248	912	32	2	1382	2	RC3H1	1	173931010	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	1519269	173931010	75319611	27	72007											
TFB2M	64216	broad.mit.edu	37	chr1	246704444	246704444	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtgcatgttaactactttCtcatcctcctgttttcctat	6	18	6	11	0	1	0	1	0	1	0	5	0	4	0	3	1	3	3	3	1	3	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:246704444C>T	ENST00000366514.4	-	8	1265	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	360					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TAACTACTTTCTCATCCTCCT	0.353													4	37					0	0	0	0	T	246704444	C	T	246704444	2	4	374	1	0	0	0	0	0	0	0	1	15888	912	32	2		2	TFB2M	1	246704444	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	72773434	246704444	2546177	28	72008											
OR2M2	391194	broad.mit.edu	37	chr1	248343476	248343476	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccccatgtacttcctcctCagccaactgtccctcatgga	8	10	5	18	0	2	0	2	0	0	0	5	1	5	1	6	1	3	1	6	1	2	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:248343476C>T	ENST00000359682.2	+	1	189	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACTTCCTCCTCAGCCAACTGT	0.532													13	348					0	0	0	0	T	248343476	C	T	248343476	2	4	374	1	0	0	0	0	0	0	0	1	11081	813	29	2		2	OR2M2	1	248343476	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	1639032	248343476	907145	29	72009											
OR14C36	127066	broad.mit.edu	37	chr1	248512914	248512914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggtttttattccataatgCctcccctctttaaccctatt	7	18	3	13	0	1	0	0	0	1	0	3	0	3	0	5	1	2	1	5	1	4	9			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:248512914C>T	ENST00000317861.1	+	1	838	c.838C>T	c.(838-840)Cct>Tct	p.P280S		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTCCATAATGCCTCCCCTCTT	0.403													23	86					0	0	0	0	T	248512914	C	T	248512914	3	4	374	1	0	0	0	0	1	0	0	0	11017	739	26	4	840	4	OR14C36	1	248512914	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	169438	248512914	737707	30	72010											
OR2G6	391211	broad.mit.edu	37	chr1	248684949	248684949	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaagctgcaggaaaaaTggaggaaaccaacaacagct	17	5	10	9	0	0	1	0	1	0	0	1	4	1	4	2	3	6	3	2	3	6	0			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr1:248684949T>C	ENST00000343414.4	+	1	34	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGGAAAAATGGAGGAAACC	0.398													10	106					0	0	0	0	C	248684949	T	C	248684949	1	2	374	1	0	0	0	0	0	0	0	0	11071	1478	51	5		5	OR2G6	1	248684949	Translation_Start_Site	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	172035	248684949	565672	31	72011											
PXDN	7837	broad.mit.edu	37	chr2	1651988	1651988	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtttttaatctcatttttCaggtcctcgaacgtgtgtgc	6	17	10	8	2	2	0	2	0	1	0	5	1	3	0	1	2	2	1	1	2	2	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:1651988C>T	ENST00000252804.4	-	17	3614	c.3564G>A	c.(3562-3564)ctG>ctA	p.L1188L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1188					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCTCATTTTTCAGGTCCTCGA	0.562													7	143					0	0	0	0	T	1651988	C	T	1651988	2	4	374	1	0	0	0	0	0	0	0	1	12929	813	29	2		2	PXDN	2	1651988	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08		1651988	241547385	32	72012											
PXDN	7837	broad.mit.edu	37	chr2	1677575	1677575	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggaatctgtcttcatgctCagctcattactacaaagaca	12	11	7	11	1	5	1	3	0	2	1	5	2	5	2	0	1	4	2	0	1	4	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:1677575C>T	ENST00000252804.4	-	9	908	c.858G>A	c.(856-858)ctG>ctA	p.L286L	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	286	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCTTCATGCTCAGCTCATTAC	0.512													4	64					0	0	0	0	T	1677575	C	T	1677575	2	4	374	1	0	0	0	0	0	0	0	1	12929	813	29	2		2	PXDN	2	1677575	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	25587	1677575	241521798	33	72013											
GRHL1	29841	broad.mit.edu	37	chr2	10101374	10101374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacccactccatcaagacaGaaacccagccacatggcttc	13	6	5	17	0	1	2	1	0	0	2	3	2	2	2	4	1	3	1	4	1	3	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:10101374G>C	ENST00000324907.9	+	4	614	c.478G>C	c.(478-480)Gaa>Caa	p.E160Q	GRHL1_ENST00000405379.2_Missense_Mutation_p.E160Q|GRHL1_ENST00000324883.5_5'UTR	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	160					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CATCAAGACAGAAACCCAGCC	0.537													4	87					0	0	0	0	C	10101374	G	C	10101374	3	2	374	1	0	0	0	0	1	0	0	0	6813	943	33	2	492	2	GRHL1	2	10101374	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	8423799	10101374	233097999	34	72014											
CAD	790	broad.mit.edu	37	chr2	27446491	27446491	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctctgggcgctgctttctGacatcccagaaccatgggtt	6	11	12	12	1	2	2	0	1	2	1	3	2	3	2	2	3	2	4	2	3	1	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:27446491G>C	ENST00000264705.4	+	7	1032	c.870G>C	c.(868-870)ctG>ctC	p.L290L	CAD_ENST00000403525.1_Silent_p.L290L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	290	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.L290L(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCTGCTTTCTGACATCCCAGA	0.567													6	165					0	0	0	0	C	27446491	G	C	27446491	2	2	374	1	0	0	0	0	0	0	0	1	2590	1277	45	2		2	CAD	2	27446491	Silent	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	17345117	27446491	215752882	35	72015											
C2orf71	388939	broad.mit.edu	37	chr2	29295589	29295589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcaggtgaagattgtggCcttgaatgtggagttttttc	8	15	13	5	0	1	3	1	2	0	1	2	4	1	4	1	3	1	2	1	3	2	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:29295589C>A	ENST00000331664.5	-	1	1538	c.1539G>T	c.(1537-1539)agG>agT	p.R513S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	513					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AAGATTGTGGCCTTGAATGTG	0.542													12	89					0.000978159	0.00102492	1	0	A	29295589	C	A	29295589	3	1	374	1	0	0	0	0	1	0	0	0	2211	738	26	4	2335	4	C2orf71	2	29295589	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	1849098	29295589	213903784	36	72016											
LCLAT1	253558	broad.mit.edu	37	chr2	30863480	30863480	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttaaattcaaagaaaaatGagtaagattataaggtttgc	19	13	7	2	0	1	3	1	1	0	2	1	3	1	3	0	1	1	2	0	1	8	7			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:30863480G>C	ENST00000309052.4	+	7	1449	c.1240G>C	c.(1240-1242)Gag>Cag	p.E414Q	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.E376Q|LCLAT1_ENST00000540623.1_Missense_Mutation_p.E376Q	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	414					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						AAAGAAAAATGAGTAAGATTA	0.353													4	53					0	0	0	0	C	30863480	G	C	30863480	3	2	374	1	0	0	0	0	1	0	0	0	8730	1291	45	2	1262	2	LCLAT1	2	30863480	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	1567891	30863480	212335893	37	72017											
CYP1B1	1545	broad.mit.edu	37	chr2	38297968	38297968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaatgacttgggtttaatgGttagaccataactgaaattc	14	14	8	5	0	0	3	0	2	0	1	1	3	0	3	1	2	1	2	1	2	6	7			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:38297968G>A	ENST00000260630.3	-	3	1930	c.1529C>T	c.(1528-1530)aCc>aTc	p.T510I	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.T510I	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	510					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GGGTTTAATGGTTAGACCATA	0.433													13	79					0	0	0	0	A	38297968	G	A	38297968	3	1	374	1	0	0	0	0	1	0	0	0	4183	1261	44	4	106	4	CYP1B1	2	38297968	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	7434488	38297968	204901405	38	72018											
GEMIN6	79833	broad.mit.edu	37	chr2	39008728	39008728	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attatgggacatgctgtgcaGactgttgaaactatgaatga	13	12	11	5	0	0	4	0	3	0	1	0	5	0	5	0	1	3	3	0	1	4	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:39008728G>A	ENST00000281950.2	+	3	314	c.198G>A	c.(196-198)caG>caA	p.Q66Q	GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	66					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding			kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				ATGCTGTGCAGACTGTTGAAA	0.463													4	76					0	0	0	0	A	39008728	G	A	39008728	2	1	374	1	0	0	0	0	0	0	0	1	6383	933	33	2		2	GEMIN6	2	39008728	Silent	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	710760	39008728	204190645	39	72019											
LRRTM4	80059	broad.mit.edu	37	chr2	77746430	77746430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttcgaagacgattgtaacCcaaatccaaaaaatcaagat	18	8	6	9	2	1	2	1	0	0	2	3	4	2	2	2	0	1	2	2	0	7	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:77746430C>T	ENST00000409088.3	-	3	979	c.565G>A	c.(565-567)Ggt>Agt	p.G189S	LRRTM4_ENST00000409282.1_Missense_Mutation_p.G190S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.G190S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.G189S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G189S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	189						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CGATTGTAACCCAAATCCAAA	0.423													25	33					0	0	0	0	T	77746430	C	T	77746430	3	4	374	1	0	0	0	0	1	0	0	0	9106	623	22	4	1221	4	LRRTM4	2	77746430	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	38737702	77746430	165452943	40	72020											
CTNNA2	1496	broad.mit.edu	37	chr2	79971609	79971609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgcctctgtagagcaaGccactcagaatttcctggaa	11	10	9	11	0	2	2	1	0	1	2	3	3	3	3	3	1	4	3	3	1	5	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:79971609G>A	ENST00000466387.1	+	7	923	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	CTNNA2_ENST00000496558.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A101T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A67T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A67T			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	67					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGTAGAGCAAGCCACTCAGAA	0.468													6	35					0	0	0	0	A	79971609	G	A	79971609	3	1	374	1	0	0	0	0	1	0	0	0	4045	971	34	4	205	4	CTNNA2	2	79971609	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	2225179	79971609	163227764	41	72021											
ZAP70	7535	broad.mit.edu	37	chr2	98354246	98354246	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagcagggaagtggccgctCaagtggtacgcacccgaatg	10	6	14	11	3	2	0	2	0	0	0	2	2	2	1	2	3	2	4	2	3	4	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:98354246C>G	ENST00000264972.5	+	12	1724	c.1509C>G	c.(1507-1509)ctC>ctG	p.L503L	ZAP70_ENST00000451498.2_Silent_p.L196L|ZAP70_ENST00000442208.1_Silent_p.L377L|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	503	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AGTGGCCGCTCAAGTGGTACG	0.637													6	123					0	0	0	0	G	98354246	C	G	98354246	2	3	374	1	0	0	0	0	0	0	0	1	17610	813	29	2		2	ZAP70	2	98354246	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	18382637	98354246	144845127	42	72022											
SLC5A7	60482	broad.mit.edu	37	chr2	108604727	108604727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcgcagaagagcgcaGcgaagccatcatagttggtg	11	6	15	9	3	1	2	1	0	0	2	1	3	1	2	1	2	4	4	1	2	3	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:108604727G>A	ENST00000264047.2	+	2	392	c.116G>A	c.(115-117)aGc>aAc	p.S39N	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.S39N	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	39					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GAAGAGCGCAGCGAAGCCATC	0.507													4	72					0	0	0	0	A	108604727	G	A	108604727	3	1	374	1	0	0	0	0	1	0	0	0	14758	971	34	4	118	4	SLC5A7	2	108604727	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	10250481	108604727	134594646	43	72023											
BUB1	699	broad.mit.edu	37	chr2	111408321	111408321	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaggatgctgaatacatgtGagacgacaaggcctgttttg	12	11	12	6	1	0	2	0	2	0	1	0	5	0	3	1	2	2	2	1	2	4	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:111408321G>C	ENST00000535254.1	-	17	2012	c.1945C>G	c.(1945-1947)Cac>Gac	p.H649D	BUB1_ENST00000409311.1_Missense_Mutation_p.H669D|BUB1_ENST00000302759.6_Missense_Mutation_p.H669D	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	669					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GAATACATGTGAGACGACAAG	0.473													5	38					0	0	0	0	C	111408321	G	C	111408321	3	2	374	1	0	0	0	0	1	0	0	0	1579	1290	45	2	1284	2	BUB1	2	111408321	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	2803594	111408321	131791052	44	72024											
GPR148	344561	broad.mit.edu	37	chr2	131487460	131487460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctggaggatctatgcagagGccaagacttcaggcatctgg	10	9	13	9	0	4	2	1	0	3	2	4	4	4	4	1	5	1	2	1	5	2	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:131487460G>T	ENST00000309926.4	+	1	818	c.736G>T	c.(736-738)Gcc>Tcc	p.A246S		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	246						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTATGCAGAGGCCAAGACTTC	0.557													5	109					0.014758	0.015044	1	0	T	131487460	G	T	131487460	3	4	374	1	0	0	0	0	1	0	0	0	6702	1203	42	4	738	4	GPR148	2	131487460	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	20079139	131487460	111711913	45	72025											
CCNT2	905	broad.mit.edu	37	chr2	135694482	135694482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaaaacttgaacatgttatCaaagtagcacatgcttgtct	14	12	7	8	1	2	1	1	1	1	0	2	2	2	1	0	0	4	4	0	0	6	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:135694482C>G	ENST00000264157.5	+	3	342	c.312C>G	c.(310-312)atC>atG	p.I104M	CCNT2_ENST00000295238.6_Missense_Mutation_p.I104M|CCNT2_ENST00000537343.1_5'UTR	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	104					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AACATGTTATCAAAGTAGCAC	0.343													6	55					0	0	0	0	G	135694482	C	G	135694482	3	3	374	1	0	0	0	0	1	0	0	0	2964	816	29	2	322	2	CCNT2	2	135694482	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	4207022	135694482	107504891	46	72026											
MARCH7	64844	broad.mit.edu	37	chr2	160604933	160604933	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaattttaaccaagaatctGaaggtagaaatacaggacca	20	8	7	6	0	1	3	0	1	1	2	1	4	1	4	2	2	2	1	2	2	9	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:160604933G>C	ENST00000259050.3	+	5	1254	c.1132G>C	c.(1132-1134)Gaa>Caa	p.E378Q	MARCH7_ENST00000409591.1_Missense_Mutation_p.E340Q|MARCH7_ENST00000409175.1_Missense_Mutation_p.E378Q|MARCH7_ENST00000539065.1_Missense_Mutation_p.E322Q	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	378	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						CCAAGAATCTGAAGGTAGAAA	0.408													8	117					0	0	0	0	C	160604933	G	C	160604933	3	2	374	1	0	0	0	0	1	0	0	0	9375	1291	45	2	1146	2	MARCH7	2	160604933	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	24910451	160604933	82594440	47	72027											
LRP2	4036	broad.mit.edu	37	chr2	170031721	170031721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacaaagaagacggtcttCatcagacccatcagggcaat	15	6	8	12	1	4	3	3	0	1	3	4	3	4	3	2	2	0	1	2	2	3	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:170031721C>T	ENST00000263816.3	-	55	11035	c.10750G>A	c.(10750-10752)Gaa>Aaa	p.E3584K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3584	LDL-receptor class A 27.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGACGGTCTTCATCAGACCCA	0.483													4	55					0	0	0	0	T	170031721	C	T	170031721	3	4	374	1	0	0	0	0	1	0	0	0	9020	835	29	2	3317	2	LRP2	2	170031721	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	9426788	170031721	73167652	48	72028											
SP3	6670	broad.mit.edu	37	chr2	174820352	174820352	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagcttgtcctgtgtttatCaaatgtccgtcggcattaat	9	16	8	8	2	1	0	1	0	0	0	4	0	3	0	2	1	1	3	2	1	4	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:174820352C>T	ENST00000310015.6	-	4	1418	c.888G>A	c.(886-888)ttG>ttA	p.L296L	SP3_ENST00000455789.2_Silent_p.L243L|SP3_ENST00000418194.2_Silent_p.L228L	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	296					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTGTGTTTATCAAATGTCCGT	0.398													8	158					0	0	0	0	T	174820352	C	T	174820352	2	4	374	1	0	0	0	0	0	0	0	1	15053	825	29	2		2	SP3	2	174820352	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	4788631	174820352	68379021	49	72029											
SP3	6670	broad.mit.edu	37	chr2	174820724	174820724	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgactggatctgtggtatCacttgatattgaacactgga	10	13	11	7	0	2	3	1	3	1	0	2	5	2	5	0	3	1	2	0	3	3	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:174820724C>T	ENST00000310015.6	-	4	1046	c.516G>A	c.(514-516)gtG>gtA	p.V172V	SP3_ENST00000455789.2_Silent_p.V119V|SP3_ENST00000418194.2_Silent_p.V104V	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	172	Transactivation domain (Gln-rich).				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TCTGTGGTATCACTTGATATT	0.403													10	259					0	0	0	0	T	174820724	C	T	174820724	2	4	374	1	0	0	0	0	0	0	0	1	15053	813	29	2		2	SP3	2	174820724	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	372	174820724	68378649	50	72030											
FSIP2	401024	broad.mit.edu	37	chr2	186670981	186670981	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atactttggaaataagaattCgaacatcaagcaatgagggg	17	9	10	5	1	1	2	1	1	0	1	2	4	1	3	0	3	3	1	0	3	7	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:186670981C>G	ENST00000343098.5	+	17	17215	c.17215C>G	c.(17215-17217)Cga>Gga	p.R5739G	FSIP2_ENST00000424728.1_Missense_Mutation_p.R5650G	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATAAGAATTCGAACATCAAG	0.383													5	53					0	0	0	0	G	186670981	C	G	186670981	3	3	374	1	0	0	0	0	1	0	0	0	6123	876	31	3	17281	3	FSIP2	2	186670981	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	11850257	186670981	56528392	51	72031											
DNAH7	56171	broad.mit.edu	37	chr2	196729578	196729578	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaatcacaaaacattaaGctgcgtaagtcatctgcttc	14	11	7	9	1	3	0	2	0	1	0	4	1	3	1	0	1	4	3	0	1	5	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:196729578G>C	ENST00000312428.6	-	41	6901	c.6801C>G	c.(6799-6801)agC>agG	p.S2267R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2267					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAACATTAAGCTGCGTAAGT	0.373													5	113					0	0	0	0	C	196729578	G	C	196729578	3	2	374	1	0	0	0	0	1	0	0	0	4642	962	34	4	5373	4	DNAH7	2	196729578	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	10058597	196729578	46469795	52	72032											
STRADB	55437	broad.mit.edu	37	chr2	202343179	202343179	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaattcccagtcaggtgtaGactctgggattggagaaagt	13	10	12	6	0	2	2	1	0	1	2	3	4	3	3	1	3	0	1	1	3	4	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:202343179G>C	ENST00000194530.3	+	10	1290	c.925G>C	c.(925-927)Gac>Cac	p.D309H	STRADB_ENST00000392249.2_Missense_Mutation_p.D309H	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	309	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GTCAGGTGTAGACTCTGGGAT	0.428													4	70					0	0	0	0	C	202343179	G	C	202343179	3	2	374	1	0	0	0	0	1	0	0	0	15415	942	33	2	959	2	STRADB	2	202343179	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	5613601	202343179	40856194	53	72033											
BMPR2	659	broad.mit.edu	37	chr2	203383547	203383547	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttaaaacacttgcagctGattggccgaggtcgatatgg	10	12	11	8	2	1	1	0	1	1	0	2	3	1	1	1	3	3	2	1	3	3	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:203383547G>C	ENST00000374580.4	+	6	1163	c.624G>C	c.(622-624)ctG>ctC	p.L208L	BMPR2_ENST00000374574.2_Silent_p.L208L	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	208	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ACTTGCAGCTGATTGGCCGAG	0.353													5	53					0	0	0	0	C	203383547	G	C	203383547	2	2	374	1	0	0	0	0	0	0	0	1	1476	1277	45	2		2	BMPR2	2	203383547	Silent	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	1040368	203383547	39815826	54	72034											
NRP2	8828	broad.mit.edu	37	chr2	206580937	206580937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatgactttatcgagattcGggatggggacagtgaatccg	10	11	14	6	3	0	3	0	2	0	1	3	6	1	5	1	3	0	1	1	3	3	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:206580937G>A	ENST00000360409.3	+	3	1063	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	NRP2_ENST00000540841.1_Missense_Mutation_p.R91Q|NRP2_ENST00000417189.1_Missense_Mutation_p.R91Q|NRP2_ENST00000272849.3_Missense_Mutation_p.R91Q|NRP2_ENST00000355117.4_Missense_Mutation_p.R91Q|NRP2_ENST00000357785.5_Missense_Mutation_p.R91Q|NRP2_ENST00000412873.2_Missense_Mutation_p.R91Q|NRP2_ENST00000357118.4_Missense_Mutation_p.R91Q|NRP2_ENST00000540178.1_Missense_Mutation_p.R91Q	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	91	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ATCGAGATTCGGGATGGGGAC	0.547													5	86					0	0	0	0	A	206580937	G	A	206580937	3	1	374	1	0	0	0	0	1	0	0	0	10732	1116	39	1	282	1	NRP2	2	206580937	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	3197390	206580937	36618436	55	72035											
PLCD4	84812	broad.mit.edu	37	chr2	219492879	219492879	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacccctgaaccactacttCatctgctcttctcataacac	11	11	2	17	0	4	1	2	1	3	0	5	1	4	1	3	0	5	1	3	0	4	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr2:219492879C>T	ENST00000450993.2	+	7	1239	c.900C>T	c.(898-900)ttC>ttT	p.F300F	PLCD4_ENST00000432688.1_Silent_p.F300F|PLCD4_ENST00000417849.1_Silent_p.F300F	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	300	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ACCACTACTTCATCTGCTCTT	0.532													11	100					0	0	0	0	T	219492879	C	T	219492879	2	4	374	1	0	0	0	0	0	0	0	1	12105	825	29	2		2	PLCD4	2	219492879	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	12911942	219492879	23706494	56	72036											
PLCD1	5333	broad.mit.edu	37	chr3	38053097	38053097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctccttcaggaagttctGcagctccttgaagctcatct	8	12	9	12	0	4	1	2	1	2	0	6	3	6	2	2	1	4	5	2	1	2	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr3:38053097G>T	ENST00000463876.1	-	4	912	c.559C>A	c.(559-561)Cag>Aag	p.Q187K	PLCD1_ENST00000479619.1_5'UTR|PLCD1_ENST00000334661.4_Missense_Mutation_p.Q166K	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	166	EF-hand 2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AGGAAGTTCTGCAGCTCCTTG	0.537													18	18					1.02788e-11	1.16023e-11	1	0	T	38053097	G	T	38053097	3	4	374	1	0	0	0	0	1	0	0	0	12103	1328	46	4	1822	4	PLCD1	3	38053097	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08		38053097	159969333	57	72037											
FILIP1L	11259	broad.mit.edu	37	chr3	99568154	99568154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacttgaggatcggaaattCttcttccattgagactaggc	11	13	9	8	1	2	2	0	2	2	1	4	5	3	4	1	3	1	0	1	3	3	7			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr3:99568154C>A	ENST00000331335.5	-	5	2836	c.2366G>T	c.(2365-2367)aGa>aTa	p.R789I	FILIP1L_ENST00000487087.1_Missense_Mutation_p.R365I|FILIP1L_ENST00000383694.2_Missense_Mutation_p.R549I|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R549I|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.R789I	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	789						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ATCGGAAATTCTTCTTCCATT	0.433													6	139					3.59834e-05	3.847e-05	1	0	A	99568154	C	A	99568154	3	1	374	1	0	0	0	0	1	0	0	0	5940	913	32	2	1070	2	FILIP1L	3	99568154	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	61515057	99568154	98454276	58	72038											
ZBTB11	27107	broad.mit.edu	37	chr3	101370231	101370231	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccacagtctcaagttcttGaggaccactgctttcttgtt	8	15	7	11	0	3	1	1	1	3	0	4	2	3	2	2	1	2	3	2	1	2	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr3:101370231G>C	ENST00000312938.4	-	11	3521	c.2941C>G	c.(2941-2943)Caa>Gaa	p.Q981E		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	981					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCAAGTTCTTGAGGACCACTG	0.458													16	131					0	0	0	0	C	101370231	G	C	101370231	3	2	374	1	0	0	0	0	1	0	0	0	17619	1299	45	2	224	2	ZBTB11	3	101370231	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	1802077	101370231	96652199	59	72039											
ADPRH	141	broad.mit.edu	37	chr3	119305355	119305355	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctacctgggggcccttgcGtctgctctttttacagccta	4	13	11	13	1	2	0	0	0	2	0	2	0	2	0	3	3	5	2	3	3	3	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr3:119305355G>A	ENST00000478399.1	+	3	1927	c.522G>A	c.(520-522)gcG>gcA	p.A174A	ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Silent_p.A174A|ADPRH_ENST00000357003.3_Silent_p.A174A|ADPRH_ENST00000478927.1_Silent_p.A174A			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	174					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GGGCCCTTGCGTCTGCTCTTT	0.537													9	218					0	0	0	0	A	119305355	G	A	119305355	2	1	374	1	0	0	0	0	0	0	0	1	331	1132	40	1		1	ADPRH	3	119305355	Silent	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	17935124	119305355	78717075	60	72040											
CLSTN2	64084	broad.mit.edu	37	chr3	140281940	140281940	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtcagcatccttcatgaaGaccaagtctcagataaggag	14	8	10	9	0	3	3	3	1	1	2	5	4	4	4	2	2	1	1	2	2	3	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr3:140281940G>C	ENST00000458420.3	+	15	2567	c.2377G>C	c.(2377-2379)Gac>Cac	p.D793H		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	793					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTTCATGAAGACCAAGTCTC	0.522										HNSCC(16;0.037)			13	108					0	0	0	0	C	140281940	G	C	140281940	3	2	374	1	0	0	0	0	1	0	0	0	3592	942	33	2	2435	2	CLSTN2	3	140281940	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	20976585	140281940	57740490	61	72041											
SLC25A36	55186	broad.mit.edu	37	chr3	140675520	140675520	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtagtgtctcccggacctCttcattgcctaaagtgagag	9	11	11	10	1	3	1	1	1	2	1	4	4	3	2	3	1	1	1	3	1	3	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr3:140675520C>G	ENST00000446041.2	+	2	418	c.193C>G	c.(193-195)Ctt>Gtt	p.L65V	SLC25A36_ENST00000507429.1_Missense_Mutation_p.L65V|SLC25A36_ENST00000453248.2_Missense_Mutation_p.L65V|SLC25A36_ENST00000393015.4_3'UTR|SLC25A36_ENST00000324194.6_Missense_Mutation_p.L65V	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	65					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TCCCGGACCTCTTCATTGCCT	0.428													14	98					0	0	0	0	G	140675520	C	G	140675520	3	3	374	1	0	0	0	0	1	0	0	0	14588	913	32	2	199	2	SLC25A36	3	140675520	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	393580	140675520	57346910	62	72042											
ATP13A4	84239	broad.mit.edu	37	chr3	193201786	193201786	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgacgagatggtggagtttTacagattgctgaaaaagaag	14	10	13	4	2	0	4	0	1	0	3	1	7	0	5	0	2	2	2	0	2	4	3	rs149388699		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr3:193201786T>A	ENST00000342695.4	-	8	1069	c.747A>T	c.(745-747)gtA>gtT	p.V249V	ATP13A4_ENST00000295548.3_Silent_p.V249V|ATP13A4_ENST00000392443.3_Silent_p.V249V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	249					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGTGGAGTTTTACAGATTGCT	0.353													5	129					0	0	0	0	A	193201786	T	A	193201786	2	1	374	1	0	0	0	0	0	0	0	1	1130	1741	61	5		5	ATP13A4	3	193201786	Silent	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	52526266	193201786	4820644	63	72043											
HAUS3	79441	broad.mit.edu	37	chr4	2240603	2240603	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taataatcttgtttagcaatCtgcagatcaaaatctccctt	13	15	4	9	0	4	1	1	0	3	1	5	1	4	1	1	0	2	3	1	0	6	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:2240603C>T	ENST00000243706.4	-	3	1306	c.1077G>A	c.(1075-1077)caG>caA	p.Q359Q	POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Silent_p.Q359Q|HAUS3_ENST00000443786.2_Silent_p.Q359Q|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	359					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTTTAGCAATCTGCAGATCAA	0.328													13	87					0	0	0	0	T	2240603	C	T	2240603	2	4	374	1	0	0	0	0	0	0	0	1	7017	912	32	2		2	HAUS3	4	2240603	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08		2240603	188913673	64	72044											
PPP2R2C	5522	broad.mit.edu	37	chr4	6335418	6335418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggaggagatgatttccgaGaagaatgagcggttactggg	12	8	16	5	3	0	5	0	2	0	3	1	8	1	6	1	4	2	1	1	4	3	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:6335418G>C	ENST00000335585.5	-	7	854	c.831C>G	c.(829-831)ttC>ttG	p.F277L	PPP2R2C_ENST00000382599.4_Missense_Mutation_p.F277L|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.F270L|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.F270L|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.F260L	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	277					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGATTTCCGAGAAGAATGAGC	0.582											OREG0016071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	57					0	0	0	0	C	6335418	G	C	6335418	3	2	374	1	0	0	0	0	1	0	0	0	12462	933	33	2	524	2	PPP2R2C	4	6335418	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	4094815	6335418	184818858	65	72045											
LRRC66	339977	broad.mit.edu	37	chr4	52860891	52860891	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggatcttcttgattcttgCatttccctggaattgtttgg	6	18	10	7	0	3	1	0	1	3	0	4	3	4	3	1	3	1	2	1	3	1	7			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:52860891C>A	ENST00000343457.3	-	4	2303	c.2297G>T	c.(2296-2298)tGc>tTc	p.C766F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	766						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTGATTCTTGCATTTCCCTGG	0.463													15	43					2.61681e-11	2.94112e-11	1	0	A	52860891	C	A	52860891	3	1	374	1	0	0	0	0	1	0	0	0	9082	710	25	4	349	4	LRRC66	4	52860891	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	46525473	52860891	138293385	66	72046											
WDFY3	23001	broad.mit.edu	37	chr4	85742694	85742694	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaaaggcctggacgtttctCacactgtgacctagaacaga	12	8	10	11	1	1	3	1	1	1	2	2	4	1	4	2	2	1	2	2	2	3	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:85742694C>G	ENST00000322366.6	-	11	1541	c.1134G>C	c.(1132-1134)gtG>gtC	p.V378V	WDFY3_ENST00000295888.4_Silent_p.V378V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	378						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGACGTTTCTCACACTGTGAC	0.338													5	71					0	0	0	0	G	85742694	C	G	85742694	2	3	374	1	0	0	0	0	0	0	0	1	17366	813	29	2		2	WDFY3	4	85742694	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	32881803	85742694	105411582	67	72047											
GRIA2	2891	broad.mit.edu	37	chr4	158254065	158254065	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaatctcccgaagggggaAtgcaggagactgtctggcaa	12	7	14	8	1	2	2	0	1	2	1	3	5	2	3	1	4	1	2	1	4	4	0			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:158254065A>T	ENST00000296526.7	+	7	1302	c.977A>T	c.(976-978)aAt>aTt	p.N326I	GRIA2_ENST00000449365.1_Missense_Mutation_p.N279I|GRIA2_ENST00000393815.2_Missense_Mutation_p.N279I|GRIA2_ENST00000264426.9_Missense_Mutation_p.N326I|GRIA2_ENST00000507898.1_Missense_Mutation_p.N279I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	326					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CGAAGGGGGAATGCAGGAGAC	0.478													5	49					0	0	0	0	T	158254065	A	T	158254065	3	4	374	1	0	0	0	0	1	0	0	0	6818	101	4	5	1003	5	GRIA2	4	158254065	Missense_Mutation	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08	72511371	158254065	32900211	68	72048											
SNX25	83891	broad.mit.edu	37	chr4	186283801	186283801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggacagcaaaatgcccGccacggtataataaaaatat	16	9	8	8	2	0	0	0	0	0	0	0	1	0	1	2	2	2	3	2	2	8	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:186283801G>C	ENST00000504273.1	+	18	2672	c.2378G>C	c.(2377-2379)cGc>cCc	p.R793P	SNX25_ENST00000264694.8_Missense_Mutation_p.R793P|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	793					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CAAAATGCCCGCCACGGTATA	0.393													16	151					0	0	0	0	C	186283801	G	C	186283801	3	2	374	1	0	0	0	0	1	0	0	0	14984	1087	38	3	2444	3	SNX25	4	186283801	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	28029736	186283801	4870475	69	72049											
TLR3	7098	broad.mit.edu	37	chr4	187004655	187004655	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacacacttccagcatctgtCtttaataatcaggtgtctct	11	14	5	11	0	4	0	1	0	3	0	6	0	5	0	1	1	2	1	1	1	3	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:187004655C>G	ENST00000296795.2	+	4	1919	c.1815C>G	c.(1813-1815)gtC>gtG	p.V605V	TLR3_ENST00000504367.1_Silent_p.V328V	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	605					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CAGCATCTGTCTTTAATAATC	0.393													4	66					0	0	0	0	G	187004655	C	G	187004655	2	3	374	1	0	0	0	0	0	0	0	1	16046	900	32	2		2	TLR3	4	187004655	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	720854	187004655	4149621	70	72050											
FAT1	2195	broad.mit.edu	37	chr4	187630870	187630870	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacggtgacgttgtactCgaggtgtgtaaactgcagag	9	10	14	8	3	0	2	0	1	0	1	1	3	0	2	0	2	4	5	0	2	3	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr4:187630870C>A	ENST00000441802.2	-	2	321	c.112G>T	c.(112-114)Gag>Tag	p.E38*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	38	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACGTTGTACTCGAGGTGTGTA	0.493										HNSCC(5;0.00058)			5	14					1.23904e-05	1.34102e-05	1	0	A	187630870	C	A	187630870	4	1	374	1	0	0	0	0	0	1	0	0	5734	893	31	3	13758	3	FAT1	4	187630870	Nonsense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	626215	187630870	3523406	71	72051											
PLEKHG4B	153478	broad.mit.edu	37	chr5	181757	181757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatgtgcagtgatgagcGaccgagtccccgacagcatc	11	6	11	13	3	0	2	0	2	0	0	2	5	1	2	4	0	3	2	4	0	1	0			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:181757G>T	ENST00000283426.6	+	17	3513	c.3463G>T	c.(3463-3465)Gac>Tac	p.D1155Y		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1155					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGTGATGAGCGACCGAGTCCC	0.617													8	83					1.12685e-05	1.22464e-05	1	0	T	181757	G	T	181757	3	4	374	1	0	0	0	0	1	0	0	0	12144	1058	37	3	3529	3	PLEKHG4B	5	181757	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08		181757	180733503	72	72052											
IRX4	50805	broad.mit.edu	37	chr5	1879678	1879678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctcgcccccctcctcctCctcgccctccgcgtagggcc	1	8	7	25	4	0	0	0	0	0	0	7	0	5	0	10	1	0	1	10	1	1	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:1879678C>T	ENST00000505790.1	-	5	1132	c.676G>A	c.(676-678)Gag>Aag	p.E226K	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.E226K|IRX4_ENST00000231357.2_Missense_Mutation_p.E226K	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	226	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		ccctcctcctcctcgccctcc	0.687													3	35					0	0	0	0	T	1879678	C	T	1879678	3	4	374	1	0	0	0	0	1	0	0	0	7899	864	30	2	891	2	IRX4	5	1879678	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	1697921	1879678	179035582	73	72053											
HCN1	348980	broad.mit.edu	37	chr5	45262532	45262532	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacagctgggaggcggtggGggaggcatagtggaaagttc	9	7	20	5	1	0	1	0	1	0	0	1	4	0	4	0	7	1	3	0	7	2	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:45262532G>C	ENST00000303230.4	-	8	2221	c.2164C>G	c.(2164-2166)Ccc>Gcc	p.P722A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	722						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.P722S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAGGCGGTGGGGGAGGCATAG	0.662													7	37					0	0	0	0	C	45262532	G	C	45262532	3	2	374	1	0	0	0	0	1	0	0	0	7046	1232	43	4	512	4	HCN1	5	45262532	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	43382854	45262532	135652728	74	72054											
HCN1	348980	broad.mit.edu	37	chr5	45262557	45262557	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatagtggaaagttcgagcGgccagagggctctgtacagg	10	7	16	8	2	1	1	0	0	1	1	2	3	1	2	1	4	2	4	1	4	3	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:45262557G>T	ENST00000303230.4	-	8	2196	c.2139C>A	c.(2137-2139)gcC>gcA	p.A713A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	713						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AAGTTCGAGCGGCCAGAGGGC	0.657													3	40					0.00909568	0.00930803	1	0	T	45262557	G	T	45262557	2	4	374	1	0	0	0	0	0	0	0	1	7046	1103	39	3		3	HCN1	5	45262557	Silent	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	25	45262557	135652703	75	72055											
UTP15	84135	broad.mit.edu	37	chr5	72875907	72875907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttccagagaataagaaGatagaatcatagtgtctgct	15	11	10	5	0	2	4	1	0	1	4	3	6	3	5	1	1	1	1	1	1	6	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:72875907G>T	ENST00000296792.4	+	13	1800	c.1545G>T	c.(1543-1545)aaG>aaT	p.K515N	UTP15_ENST00000543251.1_Missense_Mutation_p.K325N|UTP15_ENST00000508491.1_Missense_Mutation_p.K496N	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	515					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AGAATAAGAAGATAGAATCAT	0.378													4	54					0.00909568	0.00930803	1	0	T	72875907	G	T	72875907	3	4	374	1	0	0	0	0	1	0	0	0	17193	933	33	2	1591	2	UTP15	5	72875907	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	27613350	72875907	108039353	76	72056											
PDE8B	8622	broad.mit.edu	37	chr5	76649232	76649232	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactgacaataataagcagGtatggtattagctcacttcg	13	11	8	9	1	1	1	1	1	0	0	2	1	1	1	1	2	2	4	1	2	6	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:76649232G>C	ENST00000264917.5	+	10	1212		c.e10+1		PDE8B_ENST00000333194.4_Splice_Site|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000340978.3_Splice_Site|PDE8B_ENST00000342343.4_Splice_Site	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B						cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TAATAAGCAGGTATGGTATTA	0.398													3	35					0	0	0	0	C	76649232	G	C	76649232	5	2	374	1	0	0	0	0	0	0	1	0	11725	1275	44	4	1206	4	PDE8B	5	76649232	Splice_Site	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	3773325	76649232	104266028	77	72057											
SLC4A9	83697	broad.mit.edu	37	chr5	139743448	139743448	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgtcactaatgccatcacTtttgggggtctgctgggaga	8	12	12	9	0	3	1	2	0	1	1	3	2	3	1	1	3	2	1	1	3	1	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:139743448T>C	ENST00000230993.6	+	9	1322	c.1287T>C	c.(1285-1287)acT>acC	p.T429T	SLC4A9_ENST00000506757.2_Silent_p.T405T|SLC4A9_ENST00000506545.1_Silent_p.T405T|SLC4A9_ENST00000507527.1_Silent_p.T429T|SLC4A9_ENST00000432095.2_Silent_p.T394T	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	429	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCATCACTTTTGGGGGTC	0.602													4	36					0	0	0	0	C	139743448	T	C	139743448	2	2	374	1	0	0	0	0	0	0	0	1	14748	1596	56	5		5	SLC4A9	5	139743448	Silent	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	63094216	139743448	41171812	78	72058											
PCDHA5	56143	broad.mit.edu	37	chr5	140203449	140203449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctggtggatgtcaacGtgtacctgatcatcgccatc	7	11	10	13	2	2	1	2	1	0	0	4	2	2	2	3	2	3	1	3	2	2	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:140203449G>A	ENST00000529859.1	+	1	2089	c.2089G>A	c.(2089-2091)Gtg>Atg	p.V697M	PCDHA5_ENST00000529619.1_Missense_Mutation_p.V697M|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.V697M|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGTCAACGTGTACCTGAT	0.687													16	67					0	0	0	0	A	140203449	G	A	140203449	3	1	374	1	0	0	0	0	1	0	0	0	11598	1145	40	1	2091	1	PCDHA5	5	140203449	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	460001	140203449	40711811	79	72059											
FAT2	2196	broad.mit.edu	37	chr5	150946825	150946825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggctggttgtcattcaaGttcctgagctgaagaaaaat	13	12	10	6	0	2	3	2	2	0	1	3	3	3	3	1	2	1	4	1	2	5	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:150946825G>C	ENST00000261800.5	-	1	1680	c.1668C>G	c.(1666-1668)aaC>aaG	p.N556K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	556	Cadherin 4.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCATTCAAGTTCCTGAGCT	0.458													8	72					0	0	0	0	C	150946825	G	C	150946825	3	2	374	1	0	0	0	0	1	0	0	0	5735	1020	36	4	11473	4	FAT2	5	150946825	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	10743376	150946825	29968435	80	72060											
HAVCR1	26762	broad.mit.edu	37	chr5	156479435	156479435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagagacagttgttgtcaCtggaacacttgttgttgttg	8	15	13	5	0	1	1	1	0	0	1	1	3	1	2	0	2	1	6	0	2	2	7			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr5:156479435C>A	ENST00000339252.3	-	3	1142	c.610G>T	c.(610-612)Gtg>Ttg	p.V204L	HAVCR1_ENST00000425854.1_Missense_Mutation_p.V204L|HAVCR1_ENST00000523175.1_Missense_Mutation_p.V204L|HAVCR1_ENST00000544197.1_Missense_Mutation_p.V204L|HAVCR1_ENST00000522693.1_Missense_Mutation_p.V204L	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	199	Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGTTGTCACTGGAACACTT	0.473													21	254					1.01871e-10	1.14009e-10	1	0	A	156479435	C	A	156479435	3	1	374	1	0	0	0	0	1	0	0	0	7023	565	20	4	508	4	HAVCR1	5	156479435	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	5532610	156479435	24435825	81	72061											
DSP	1832	broad.mit.edu	37	chr6	7585618	7585618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagggaaagaagaagatgtCagcagcagaggcagtgaaag	18	3	16	4	0	1	5	1	1	0	4	1	7	1	6	0	2	2	3	0	2	5	0			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:7585618C>T	ENST00000379802.3	+	24	8464	c.8123C>T	c.(8122-8124)tCa>tTa	p.S2708L	DSP_ENST00000418664.2_Missense_Mutation_p.S2109L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2708	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAGAAGATGTCAGCAGCAGAG	0.552													11	160					0	0	0	0	T	7585618	C	T	7585618	3	4	374	1	0	0	0	0	1	0	0	0	4817	838	29	2	8217	2	DSP	6	7585618	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08		7585618	163529449	82	72062											
BTN2A1	11120	broad.mit.edu	37	chr6	26468373	26468373	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgggaggtggaggtggaaAacgtgattgagtggactgtg	10	9	19	3	1	0	2	0	2	0	0	0	6	0	6	0	6	1	0	0	6	2	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:26468373A>G	ENST00000312541.5	+	8	1428	c.1180A>G	c.(1180-1182)Aac>Gac	p.N394D	BTN2A1_ENST00000541522.1_Missense_Mutation_p.N333D|BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000429381.1_3'UTR	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	394	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GGAGGTGGAAAACGTGATTGA	0.547													6	97					0	0	0	0	G	26468373	A	G	26468373	3	3	374	1	0	0	0	0	1	0	0	0	1569	14	1	5	1233	5	BTN2A1	6	26468373	Missense_Mutation	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08	18882755	26468373	144646694	83	72063											
OR2J2	26707	broad.mit.edu	37	chr6	29141422	29141422	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaaagatgaatgatgattAaaaaaaatgcaagttcggaa	22	8	9	2	1	0	4	0	3	0	1	1	6	0	5	0	1	1	2	0	1	9	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:29141422A>T	ENST00000377167.2	+	1	112	c.10A>T	c.(10-12)Aaa>Taa	p.K4*		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AATGATGATTAAAAAAAATGC	0.358													4	87					0	0	0	0	T	29141422	A	T	29141422	4	4	374	1	0	0	0	0	0	1	0	0	11074	363	13	5	12	5	OR2J2	6	29141422	Nonsense_Mutation	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08	2673049	29141422	141973645	84	72064											
GPSM3	63940	broad.mit.edu	37	chr6	32160012	32160012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagggggccagccttcctCatcctgaggggggccctgat	5	8	16	12	0	1	2	1	2	0	0	3	3	3	3	5	6	1	0	5	6	0	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:32160012C>T	ENST00000375040.3	-	2	450	c.58G>A	c.(58-60)Gag>Aag	p.E20K	GPSM3_ENST00000487761.1_Missense_Mutation_p.E17K|GPSM3_ENST00000375043.3_Missense_Mutation_p.E20K	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	20	Pro-rich.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						CAGCCTTCCTCATCCTGAGGG	0.622													4	30					0	0	0	0	T	32160012	C	T	32160012	3	4	374	1	0	0	0	0	1	0	0	0	6786	835	29	2	436	2	GPSM3	6	32160012	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	3018590	32160012	138955055	85	72065											
XPO5	57510	broad.mit.edu	37	chr6	43492249	43492249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgtttgaattggtcctttCggcgcttgtcagccactttc	4	15	11	11	3	1	1	1	1	0	0	4	1	2	1	2	3	1	2	2	3	1	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:43492249C>T	ENST00000265351.7	-	31	3647	c.3437G>A	c.(3436-3438)cGa>cAa	p.R1146Q	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	1146					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TTGGTCCTTTCGGCGCTTGTC	0.488													11	44					0	0	0	0	T	43492249	C	T	43492249	3	4	374	1	0	0	0	0	1	0	0	0	17543	884	31	1	185	1	XPO5	6	43492249	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	11332237	43492249	127622818	86	72066											
FAM135A	57579	broad.mit.edu	37	chr6	71235240	71235240	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgattataatgtaaaattttCattaggaaatcattgtactg	15	17	6	3	0	2	1	2	1	0	0	2	2	2	2	0	1	1	2	0	1	7	8			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:71235240C>G	ENST00000418814.2	+	15	3067	c.2453C>G	c.(2452-2454)tCa>tGa	p.S818*	FAM135A_ENST00000370479.3_Nonsense_Mutation_p.S605*|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000457062.2_Nonsense_Mutation_p.S605*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.S818*|FAM135A_ENST00000361499.3_Nonsense_Mutation_p.S622*	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	818										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GTAAAATTTTCATTAGGAAAT	0.358													7	48					0	0	0	0	G	71235240	C	G	71235240	4	3	374	1	0	0	0	0	0	1	0	0	5489	838	29	2	2581	2	FAM135A	6	71235240	Nonsense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	27742991	71235240	99879827	87	72067											
KCNQ5	56479	broad.mit.edu	37	chr6	73904786	73904786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggaggagaaactctgttGtctgtctgtcccatggtgcc	7	12	13	9	0	3	1	0	0	3	1	4	3	4	2	2	3	2	1	2	3	1	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:73904786G>T	ENST00000342056.2	+	15	2903	c.2505G>T	c.(2503-2505)ttG>ttT	p.L835F	KCNQ5_ENST00000355635.3_Missense_Mutation_p.L817F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L816F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L706F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L807F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L826F|KCNQ5_ENST00000370398.1_Missense_Mutation_p.L816F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	816					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AAACTCTGTTGTCTGTCTGTC	0.478													5	72					0.184627	0.186042	1	0	T	73904786	G	T	73904786	3	4	374	1	0	0	0	0	1	0	0	0	8139	1368	48	4	2563	4	KCNQ5	6	73904786	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	2669546	73904786	97210281	88	72068											
REV3L	5980	broad.mit.edu	37	chr6	111695502	111695502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatatatttttttgaattaaCgttgattcctttagagtaaa	14	19	5	3	1	0	3	0	2	0	1	1	3	1	3	1	0	1	2	1	0	8	11			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:111695502C>T	ENST00000435970.1	-	15	4638	c.3822G>A	c.(3820-3822)acG>acA	p.T1274T	REV3L_ENST00000358835.3_Silent_p.T1352T|REV3L_ENST00000368802.3_Silent_p.T1352T|REV3L_ENST00000368805.1_Silent_p.T1352T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1352					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTGAATTAACGTTGATTCCT	0.323								DNA polymerases (catalytic subunits)					14	74					0	0	0	0	T	111695502	C	T	111695502	2	4	374	1	0	0	0	0	0	0	0	1	13322	523	19	1		1	REV3L	6	111695502	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	37790716	111695502	59419565	89	72069											
KPNA5	3841	broad.mit.edu	37	chr6	117043403	117043403	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggacccaatgataaaattCaagcagtcattgattctgga	15	11	8	7	0	3	2	2	2	1	0	3	4	3	4	1	2	1	1	1	2	4	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:117043403C>G	ENST00000368564.1	+	9	1019	c.871C>G	c.(871-873)Caa>Gaa	p.Q291E	KPNA5_ENST00000356348.1_Missense_Mutation_p.Q291E			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	288					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TGATAAAATTCAAGCAGTCAT	0.368													3	37					0	0	0	0	G	117043403	C	G	117043403	3	3	374	1	0	0	0	0	1	0	0	0	8485	827	29	2	905	2	KPNA5	6	117043403	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	5347901	117043403	54071664	90	72070											
NOX3	50508	broad.mit.edu	37	chr6	155750022	155750022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgcccggatgtgcaCgctgaaaaagtcctcctggg	7	9	12	13	2	0	1	0	1	0	0	3	2	3	2	4	2	3	3	4	2	2	0	rs149980019		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:155750022C>T	ENST00000159060.2	-	9	1153	c.1051G>A	c.(1051-1053)Gtg>Atg	p.V351M		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	351	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.V351M(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGGATGTGCACGCTGAAAAAG	0.637													4	65					0	0	0	0	T	155750022	C	T	155750022	3	4	374	1	0	0	0	0	1	0	0	0	10627	536	19	1	675	1	NOX3	6	155750022	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	38706619	155750022	15365045	91	72071											
C6orf118	168090	broad.mit.edu	37	chr6	165715297	165715297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagttcttccctcctgcGccatccaggagggccccgtc	4	8	11	18	3	1	0	0	0	1	0	5	2	4	2	7	3	1	1	7	3	0	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr6:165715297G>T	ENST00000543069.1	-	2	783	c.202C>A	c.(202-204)Cgc>Agc	p.R68S	C6orf118_ENST00000230301.8_Missense_Mutation_p.R172S			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	172										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCCCTCCTGCGCCATCCAGGA	0.612													18	35					5.3912e-06	5.88335e-06	1	0	T	165715297	G	T	165715297	3	4	374	1	0	0	0	0	1	0	0	0	2344	1087	38	3	927	3	C6orf118	6	165715297	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	9965275	165715297	5399770	92	72072											
PKD1L1	168507	broad.mit.edu	37	chr7	47970749	47970749	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccacaggggcactcgcTgggagctggtctgagtgggt	5	8	18	10	2	1	1	0	1	1	0	3	2	1	2	1	6	1	3	1	6	0	0			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:47970749T>A	ENST00000289672.2	-	6	739	c.689A>T	c.(688-690)cAg>cTg	p.Q230L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	230					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGGCACTCGCTGGGAGCTGGT	0.612													6	45					0	0	0	0	A	47970749	T	A	47970749	3	1	374	1	0	0	0	0	1	0	0	0	12036	1580	55	5	8068	5	PKD1L1	7	47970749	Missense_Mutation	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08		47970749	111167914	93	72073											
CASD1	64921	broad.mit.edu	37	chr7	94167034	94167034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccctgtgtcttcattagAaatacttttacaatctttct	10	18	3	10	0	4	1	1	0	3	1	4	1	4	1	2	0	3	0	2	0	6	7			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:94167034A>G	ENST00000297273.4	+	9	1381	c.1094A>G	c.(1093-1095)gAa>gGa	p.E365G		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	365						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TCTTCATTAGAAATACTTTTA	0.338													4	74					0	0	0	0	G	94167034	A	G	94167034	3	3	374	1	0	0	0	0	1	0	0	0	2689	246	9	5	1128	5	CASD1	7	94167034	Missense_Mutation	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08	46196285	94167034	64971629	94	72074											
PIK3CG	5294	broad.mit.edu	37	chr7	106509542	106509542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actaacccagacaaggagaaCtcaatgtccatctccattct	14	9	5	13	0	3	2	1	0	2	2	5	3	4	2	3	1	2	0	3	1	4	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:106509542C>G	ENST00000359195.3	+	2	1846	c.1536C>G	c.(1534-1536)aaC>aaG	p.N512K	PIK3CG_ENST00000496166.1_Missense_Mutation_p.N512K|PIK3CG_ENST00000440650.2_Missense_Mutation_p.N512K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	512					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACAAGGAGAACTCAATGTCCA	0.532													4	90					0	0	0	0	G	106509542	C	G	106509542	3	3	374	1	0	0	0	0	1	0	0	0	11988	564	20	4	1538	4	PIK3CG	7	106509542	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	12342508	106509542	52629121	95	72075											
PNPLA8	50640	broad.mit.edu	37	chr7	108113089	108113089	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctaaaataggtgtcaggaGgtaacaggccatcaagcatt	15	9	10	7	0	3	0	2	0	1	0	3	1	3	1	1	4	2	2	1	4	5	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:108113089G>C	ENST00000426128.2	-	10	2044	c.1919C>G	c.(1918-1920)cCt>cGt	p.P640R	PNPLA8_ENST00000257694.8_Missense_Mutation_p.P702R|PNPLA8_ENST00000388728.5_Missense_Mutation_p.P640R|PNPLA8_ENST00000422087.1_Missense_Mutation_p.P702R|PNPLA8_ENST00000453144.1_Missense_Mutation_p.P602R|PNPLA8_ENST00000436062.1_Missense_Mutation_p.P702R	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	702	Patatin.				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GGTGTCAGGAGGTAACAGGCC	0.383													5	48					0	0	0	0	C	108113089	G	C	108113089	3	2	374	1	0	0	0	0	1	0	0	0	12243	1000	35	4	247	4	PNPLA8	7	108113089	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	1603547	108113089	51025574	96	72076											
DOCK4	9732	broad.mit.edu	37	chr7	111368447	111368447	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttggggggcagcgcgggCggctccgacgtgacggggat	4	5	22	10	6	0	1	0	1	0	0	1	3	1	2	1	8	1	3	1	8	0	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:111368447C>T	ENST00000428084.1	-	53	6083	c.5811G>A	c.(5809-5811)ccG>ccA	p.P1937P	DOCK4_ENST00000494651.2_Silent_p.P811P|DOCK4_ENST00000437633.1_Silent_p.P1928P			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1928	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCAGCGCGGGCGGCTCCGACG	0.736													4	37					0	0	0	0	T	111368447	C	T	111368447	2	4	374	1	0	0	0	0	0	0	0	1	4725	755	27	1		1	DOCK4	7	111368447	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	3255358	111368447	47770216	97	72077											
CADPS2	93664	broad.mit.edu	37	chr7	122033559	122033559	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcgatggaagactccaTgagatccacatagcggacaa	13	6	12	10	2	0	2	0	1	0	2	2	6	2	4	2	3	1	0	2	3	3	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:122033559T>G	ENST00000334010.7	-	19	3239	c.2818A>C	c.(2818-2820)Atg>Ctg	p.M940L	CADPS2_ENST00000449022.2_Missense_Mutation_p.M942L|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.M936L|CADPS2_ENST00000412584.2_Missense_Mutation_p.M936L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	942	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GAAGACTCCATGAGATCCACA	0.458													25	64					0	0	0	0	G	122033559	T	G	122033559	3	3	374	1	0	0	0	0	1	0	0	0	2596	1464	51	5	1125	5	CADPS2	7	122033559	Missense_Mutation	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	10665112	122033559	37105104	98	72078											
EPHB6	2051	broad.mit.edu	37	chr7	142566032	142566032	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacatcgacccctccacctAcgaggacccctgtcaggcca	9	7	7	18	2	1	0	1	0	0	0	3	3	2	1	7	2	2	0	7	2	2	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:142566032A>G	ENST00000392957.2	+	14	2739	c.1952A>G	c.(1951-1953)tAc>tGc	p.Y651C	EPHB6_ENST00000411471.2_Missense_Mutation_p.Y374C|EPHB6_ENST00000442129.1_Missense_Mutation_p.Y651C	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	651						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCCTCCACCTACGAGGACCCC	0.572													8	63					0	0	0	0	G	142566032	A	G	142566032	3	3	374	1	0	0	0	0	1	0	0	0	5216	391	14	5	1990	5	EPHB6	7	142566032	Missense_Mutation	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08	20532473	142566032	16572631	99	72079											
CNTNAP2	26047	broad.mit.edu	37	chr7	146829381	146829381	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaccctatacggtgcctgtCtttttcaacgctacaagtta	10	13	7	11	2	2	0	1	0	1	0	2	1	2	0	2	1	5	2	2	1	7	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr7:146829381C>G	ENST00000361727.3	+	8	1644	c.1128C>G	c.(1126-1128)gtC>gtG	p.V376V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	376					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.V376V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGGTGCCTGTCTTTTTCAACG	0.458										HNSCC(39;0.1)			12	65					0	0	0	0	G	146829381	C	G	146829381	2	3	374	1	0	0	0	0	0	0	0	1	3677	900	32	2		2	CNTNAP2	7	146829381	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	4263349	146829381	12309282	100	72080											
SNTG1	54212	broad.mit.edu	37	chr8	51621457	51621457	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacctagtgcaagacctaTgcatgtgtgctagaaagtca	12	11	9	9	0	2	2	1	0	1	2	2	2	2	2	2	0	4	3	2	0	6	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:51621457T>C	ENST00000522124.1	+	17	1864	c.1203T>C	c.(1201-1203)taT>taC	p.Y401Y	SNTG1_ENST00000517473.1_Silent_p.Y401Y|SNTG1_ENST00000276467.5_Silent_p.Y401Y|SNTG1_ENST00000518864.1_Silent_p.Y401Y	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	401					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCAAGACCTATGCATGTGTGC	0.363													8	66					0	0	0	0	C	51621457	T	C	51621457	2	2	374	1	0	0	0	0	0	0	0	1	14962	1471	51	5		5	SNTG1	8	51621457	Silent	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08		51621457	94742565	101	72081											
ST18	9705	broad.mit.edu	37	chr8	53025818	53025818	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtagagctttgcattccggGgaatagtcccgttccagatt	9	12	11	9	2	0	2	0	0	0	2	3	3	3	3	3	2	2	4	3	2	3	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:53025818G>T	ENST00000276480.7	-	26	3767	c.3084C>A	c.(3082-3084)tcC>tcA	p.S1028S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	1028						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGCATTCCGGGGAATAGTCCC	0.453													13	48					7.93312e-07	8.69338e-07	1	0	T	53025818	G	T	53025818	2	4	374	1	0	0	0	0	0	0	0	1	15302	1219	43	4		4	ST18	8	53025818	Silent	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	1404361	53025818	93338204	102	72082											
PEX2	5828	broad.mit.edu	37	chr8	77896226	77896226	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatggtgaatctccacaaGaaaacccataagcacgcttt	15	9	7	10	1	1	3	0	1	1	2	2	3	1	3	2	1	2	2	2	1	6	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:77896226G>A	ENST00000419564.2	-	4	653	c.189C>T	c.(187-189)ttC>ttT	p.F63F	PEX2_ENST00000522527.1_Silent_p.F63F|PEX2_ENST00000520103.1_Silent_p.F63F|PEX2_ENST00000357039.4_Silent_p.F63F	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	63					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						ATCTCCACAAGAAAACCCATA	0.428													6	58					0	0	0	0	A	77896226	G	A	77896226	2	1	374	1	0	0	0	0	0	0	0	1	11817	933	33	2		2	PEX2	8	77896226	Silent	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	24870408	77896226	68467796	103	72083											
PTDSS1	9791	broad.mit.edu	37	chr8	97311987	97311987	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcaagtcattctggacatCctgttgtgcaatggcggtgg	8	12	13	8	1	3	0	2	0	1	0	4	2	4	1	1	4	1	2	1	4	2	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:97311987C>A	ENST00000517309.1	+	6	992	c.666C>A	c.(664-666)atC>atA	p.I222I	PTDSS1_ENST00000522072.1_Silent_p.I19I|PTDSS1_ENST00000455950.2_Silent_p.I76I|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	222					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TTCTGGACATCCTGTTGTGCA	0.493													7	133					0.248553	0.249501	1	0	A	97311987	C	A	97311987	2	1	374	1	0	0	0	0	0	0	0	1	12815	845	30	2		2	PTDSS1	8	97311987	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	19415761	97311987	49052035	104	72084											
POP1	10940	broad.mit.edu	37	chr8	99170478	99170478	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctgcagtatcgatttgcGaggattgctattgaggtgtg	7	15	13	6	2	1	1	0	1	1	0	3	4	1	2	0	2	3	3	0	2	2	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:99170478G>A	ENST00000401707.2	+	16	3135	c.3054G>A	c.(3052-3054)gcG>gcA	p.A1018A	POP1_ENST00000349693.3_Silent_p.A1018A	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	1018					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATCGATTTGCGAGGATTGCTA	0.507													7	127					0	0	0	0	A	99170478	G	A	99170478	2	1	374	1	0	0	0	0	0	0	0	1	12323	1045	37	1		1	POP1	8	99170478	Silent	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	1858491	99170478	47193544	105	72085											
LRP12	29967	broad.mit.edu	37	chr8	105503752	105503752	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgtaccgctagcctcagatTttccaaaacagaagcctaca	13	9	6	13	2	1	2	1	0	0	2	3	2	2	2	4	0	5	2	4	0	6	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:105503752T>A	ENST00000276654.5	-	7	1837	c.1729A>T	c.(1729-1731)Aat>Tat	p.N577Y	LRP12_ENST00000424843.2_Missense_Mutation_p.N558Y|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	577					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCTCAGATTTTCCAAAACA	0.348													8	47					0	0	0	0	A	105503752	T	A	105503752	3	1	374	1	0	0	0	0	1	0	0	0	9018	1841	64	5	854	5	LRP12	8	105503752	Missense_Mutation	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	6333274	105503752	40860270	106	72086											
CSMD3	114788	broad.mit.edu	37	chr8	113331173	113331173	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagacactgatacctaataAtatcacctattaaacaaaag	20	9	4	8	0	1	2	1	1	0	1	1	3	1	2	2	0	2	0	2	0	10	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:113331173A>T	ENST00000297405.5	-	47	7497	c.7253T>A	c.(7252-7254)aTt>aAt	p.I2418N	CSMD3_ENST00000455883.2_Missense_Mutation_p.I2314N|CSMD3_ENST00000352409.3_Missense_Mutation_p.I2348N|CSMD3_ENST00000343508.3_Missense_Mutation_p.I2378N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2418	Sushi 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACCTAATAATATCACCTAT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	28					0	0	0	0	T	113331173	A	T	113331173	3	4	374	1	0	0	0	0	1	0	0	0	3978	101	4	5	3970	5	CSMD3	8	113331173	Missense_Mutation	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08	7827421	113331173	33032849	107	72087											
CSMD3	114788	broad.mit.edu	37	chr8	113649233	113649233	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacaaggttcaaggttataTtctgtaaattagagagaaaa	17	12	8	4	0	3	2	2	0	1	2	3	3	3	2	0	2	0	3	0	2	9	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:113649233T>G	ENST00000297405.5	-	22	3772	c.3526_splice	c.e22-1	p.E1176_splice	CSMD3_ENST00000455883.2_Splice_Site_p.E1072_splice|CSMD3_ENST00000352409.3_Splice_Site_p.E1176_splice|CSMD3_ENST00000343508.3_Splice_Site_p.E1136_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1176	CUB 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAGGTTATATTCTGTAAATT	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	84					0	0	0	0	G	113649233	T	G	113649233	5	3	374	1	0	0	0	0	0	0	1	0	3978	1507	52	5	7795	5	CSMD3	8	113649233	Splice_Site	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	318060	113649233	32714789	108	72088											
TRPS1	7227	broad.mit.edu	37	chr8	116616662	116616662	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccccactcgagctcttgtCtgtcttggtcattgtctctc	4	15	8	14	1	5	0	1	0	4	0	8	1	5	0	2	1	2	1	2	1	0	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:116616662C>G	ENST00000395715.3	-	4	2111	c.1534G>C	c.(1534-1536)Gac>Cac	p.D512H	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.D503H|TRPS1_ENST00000220888.5_Missense_Mutation_p.D499H|TRPS1_ENST00000519674.1_Missense_Mutation_p.D499H	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	499					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGCTCTTGTCTGTCTTGGTC	0.443									Langer-Giedion syndrome				7	108					0	0	0	0	G	116616662	C	G	116616662	3	3	374	1	0	0	0	0	1	0	0	0	16688	913	32	2	2366	2	TRPS1	8	116616662	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	2967429	116616662	29747360	109	72089											
WISP1	8840	broad.mit.edu	37	chr8	134239811	134239811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctaagactatcgacgtgtCcttccagtgtcctgatgggc	7	12	11	11	2	1	2	0	1	1	1	5	3	4	2	3	1	0	0	3	1	2	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:134239811C>T	ENST00000250160.6	+	5	1068	c.962C>T	c.(961-963)tCc>tTc	p.S321F	WISP1_ENST00000519433.1_Missense_Mutation_p.S76F|WISP1_ENST00000517423.1_3'UTR|WISP1_ENST00000220856.6_Missense_Mutation_p.S234F|WISP1_ENST00000377863.2_Missense_Mutation_p.S149F	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	321	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATCGACGTGTCCTTCCAGTGT	0.517													5	79					0	0	0	0	T	134239811	C	T	134239811	3	4	374	1	0	0	0	0	1	0	0	0	17468	855	30	2	980	2	WISP1	8	134239811	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	17623149	134239811	12124211	110	72090											
FAM135B	51059	broad.mit.edu	37	chr8	139165053	139165053	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttattgctagattttacGtcaatgtaggtcagcactgg	9	16	9	7	1	3	1	2	0	1	1	3	1	3	1	0	2	3	3	0	2	5	7			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:139165053G>A	ENST00000395297.1	-	13	1835	c.1665C>T	c.(1663-1665)gaC>gaT	p.D555D		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	555										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGATTTTACGTCAATGTAGG	0.488										HNSCC(54;0.14)			18	73					0	0	0	0	A	139165053	G	A	139165053	2	1	374	1	0	0	0	0	0	0	0	1	5490	1136	40	1		1	FAM135B	8	139165053	Silent	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	4925242	139165053	7198969	111	72091											
CYC1	1537	broad.mit.edu	37	chr8	145151588	145151588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacttcaacccctactttcCtggccaggccattgccatgg	7	11	7	16	0	1	0	1	0	0	0	2	0	2	0	6	3	4	0	6	3	3	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr8:145151588C>T	ENST00000318911.4	+	5	786	c.713C>T	c.(712-714)cCt>cTt	p.P238L		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	238					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCTACTTTCCTGGCCAGGCC	0.572													6	73					0	0	0	0	T	145151588	C	T	145151588	3	4	374	1	0	0	0	0	1	0	0	0	4167	681	24	4	731	4	CYC1	8	145151588	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	5986535	145151588	1212434	112	72092											
PTPRD	5789	broad.mit.edu	37	chr9	8465607	8465607	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatcaaagtgagcggcaatAtatggctttaattcaacttc	14	12	7	8	1	2	1	2	1	0	0	3	1	2	1	0	2	2	2	0	2	6	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:8465607A>G	ENST00000381196.4	-	29	4116	c.3573T>C	c.(3571-3573)taT>taC	p.Y1191Y	PTPRD_ENST00000540109.1_Silent_p.Y1191Y|PTPRD_ENST00000397617.3_Silent_p.Y770Y|PTPRD_ENST00000397606.3_Silent_p.Y770Y|PTPRD_ENST00000358503.5_Silent_p.Y1169Y|PTPRD_ENST00000397611.3_Silent_p.Y777Y|PTPRD_ENST00000537002.1_Silent_p.Y777Y|PTPRD_ENST00000355233.5_Silent_p.Y780Y|PTPRD_ENST00000360074.4_Silent_p.Y1178Y|PTPRD_ENST00000356435.5_Silent_p.Y1191Y|PTPRD_ENST00000486161.1_Silent_p.Y780Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1191					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGCGGCAATATATGGCTTTA	0.423										TSP Lung(15;0.13)			6	81					0	0	0	0	G	8465607	A	G	8465607	2	3	374	1	0	0	0	0	0	0	0	1	12881	456	16	5		5	PTPRD	9	8465607	Silent	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08		8465607	132747824	113	72093											
TAF1L	138474	broad.mit.edu	37	chr9	32631254	32631254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtttgtaggtccattggccGagtgatgattttgtagtagt	7	17	13	4	1	0	2	0	2	0	0	1	3	1	2	2	2	0	4	2	2	3	7			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:32631254G>A	ENST00000242310.4	-	1	4413	c.4324C>T	c.(4324-4326)Cgg>Tgg	p.R1442W		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1442	Bromo 1.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCATTGGCCGAGTGATGATT	0.438													19	131					0	0	0	0	A	32631254	G	A	32631254	3	1	374	1	0	0	0	0	1	0	0	0	15614	1057	37	1	1160	1	TAF1L	9	32631254	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	24165647	32631254	108582177	114	72094											
ZCCHC6	79670	broad.mit.edu	37	chr9	88932144	88932144	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaggtacctgaatgtttTctgaggactcttgctaattc	10	14	9	8	0	2	3	0	2	2	1	3	4	2	4	1	2	2	3	1	2	3	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:88932144T>A	ENST00000277141.6	-	18	3555	c.1131A>T	c.(1129-1131)agA>agT	p.R377S	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R1088S|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.R26S|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R1088S|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R852S			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1088					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CTGAATGTTTTCTGAGGACTC	0.353													8	62					0	0	0	0	A	88932144	T	A	88932144	3	1	374	1	0	0	0	0	1	0	0	0	17687	1780	62	5	1267	5	ZCCHC6	9	88932144	Missense_Mutation	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	56300890	88932144	52281287	115	72095											
ABCA1	19	broad.mit.edu	37	chr9	107553272	107553272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaacatcttgaaagttgatGattttccagccccattaact	12	15	5	9	0	1	3	0	3	1	0	2	3	2	3	3	0	3	1	3	0	3	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:107553272G>A	ENST00000374736.3	-	44	6252	c.5858C>T	c.(5857-5859)tCa>tTa	p.S1953L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1953	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAAAGTTGATGATTTTCCAGC	0.383													5	139					0	0	0	0	A	107553272	G	A	107553272	3	1	374	1	0	0	0	0	1	0	0	0	28	1294	45	2	955	2	ABCA1	9	107553272	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	18621128	107553272	33660159	116	72096											
IKBKAP	8518	broad.mit.edu	37	chr9	111665181	111665181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaccgaacaggaaatcCaccagagttcttccatggtt	14	8	9	10	1	1	1	0	0	1	1	3	4	3	3	4	3	2	2	4	3	3	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:111665181C>T	ENST00000374647.5	-	16	2099	c.1792G>A	c.(1792-1794)Gga>Aga	p.G598R	IKBKAP_ENST00000537196.1_Missense_Mutation_p.G249R	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	598					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGGAAATCCACCAGAGTTC	0.438													4	48					0	0	0	0	T	111665181	C	T	111665181	3	4	374	1	0	0	0	0	1	0	0	0	7663	603	21	4	2294	4	IKBKAP	9	111665181	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	4111909	111665181	29548250	117	72097											
C5	727	broad.mit.edu	37	chr9	123725945	123725945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcttcatttgcactgattCcagtaggcaaggagatgtcc	9	13	9	10	0	2	2	1	1	1	1	4	3	4	2	2	2	1	3	2	2	2	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:123725945C>T	ENST00000223642.1	-	34	4321	c.4292G>A	c.(4291-4293)gGa>gAa	p.G1431E		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1431					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TGCACTGATTCCAGTAGGCAA	0.353													11	38					0	0	0	0	T	123725945	C	T	123725945	3	4	374	1	0	0	0	0	1	0	0	0	2301	855	30	2	770	2	C5	9	123725945	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	12060764	123725945	17487486	118	72098											
OR1L6	392390	broad.mit.edu	37	chr9	125512513	125512513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggctggtggccatctgcaaCcccttacactatgatgtggt	7	11	11	12	1	1	1	0	1	1	0	1	1	1	1	3	4	3	2	3	4	3	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:125512513C>T	ENST00000373684.1	+	1	495	c.495C>T	c.(493-495)aaC>aaT	p.N165N	OR1L6_ENST00000304720.2_Silent_p.N129N			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CCATCTGCAACCCCTTACACT	0.542													9	114					0	0	0	0	T	125512513	C	T	125512513	2	4	374	1	0	0	0	0	0	0	0	1	11037	506	18	4		4	OR1L6	9	125512513	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	1786568	125512513	15700918	119	72099											
PPAPDC3	84814	broad.mit.edu	37	chr9	134165696	134165696	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcgctggccgggcggcGtcctgggccagtgcccgctc	1	7	18	15	5	0	0	0	0	0	0	2	0	1	0	4	4	2	2	4	4	0	0			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:134165696G>A	ENST00000372264.3	+	1	616	c.312G>A	c.(310-312)gcG>gcA	p.A104A	PPAPDC3_ENST00000372261.1_Silent_p.A104A	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	104						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		GCCGGGCGGCGTCCTGGGCCA	0.647													12	65					0	0	0	0	A	134165696	G	A	134165696	2	1	374	1	0	0	0	0	0	0	0	1	12367	1132	40	1		1	PPAPDC3	9	134165696	Silent	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	8653183	134165696	7047735	120	72100											
ABCA2	20	broad.mit.edu	37	chr9	139915366	139915366	+	Frame_Shift_Del	DEL	G	G	-																															ccggccagtgcaggcaccctGgggcagtagcagggccaggg																										TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr9:139915366delG	ENST00000265662.5	-	9	1192	c.1045delC	c.(1045-1047)agfs	p.Q349fs	ABCA2_ENST00000341511.6_Frame_Shift_Del_p.Q349fs|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Frame_Shift_Del_p.Q348fs			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	348					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAGGCACCCTGGGGCAGTAGC	0.711													2	4	---	---	---	---					-	139915366	G	-	139915366	7	5	374	1	0	1	0	1	0	0	0	0	32	1357	47	0	6429	0	ABCA2	9	139915366	Frame_Shift_Del	DEL	G	TCGA-D6-A4ZB-01A-11D-A25D-08	5749670	139915366	1298065	121	72101											
RHOBTB1	9886	broad.mit.edu	37	chr10	62652608	62652608	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgattaacagcttccaggtCggcatagcggagatcaagct	11	9	11	10	3	1	1	1	0	0	1	4	3	2	1	1	3	4	3	1	3	3	3	rs141139124	by1000genomes	TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr10:62652608C>A	ENST00000337910.5	-	5	779	c.442G>T	c.(442-444)Gac>Tac	p.D148Y	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D148Y	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	148	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.D148Y(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GCTTCCAGGTCGGCATAGCGG	0.502													4	52					0.150653	0.15298	1	0	A	62652608	C	A	62652608	3	1	374	1	0	0	0	0	1	0	0	0	13416	884	31	3	1676	3	RHOBTB1	10	62652608	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08		62652608	72882139	122	72102											
PAPSS2	9060	broad.mit.edu	37	chr10	89501080	89501080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgggctggaccaataccGtctgacacctctggagctca	9	9	11	12	1	3	2	1	2	2	0	3	4	3	4	3	3	2	2	3	3	2	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr10:89501080G>A	ENST00000361175.4	+	9	1529	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	PAPSS2_ENST00000427144.2_Missense_Mutation_p.R391H|PAPSS2_ENST00000456849.1_Missense_Mutation_p.R392H	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	387					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GACCAATACCGTCTGACACCT	0.413													4	60					0	0	0	0	A	89501080	G	A	89501080	3	1	374	1	0	0	0	0	1	0	0	0	11506	1145	40	1	1213	1	PAPSS2	10	89501080	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	26848472	89501080	46033667	123	72103											
NOC3L	64318	broad.mit.edu	37	chr10	96116974	96116974	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attataccacttttatctttGataggaagtaaatgaatcag	15	15	6	5	0	2	2	1	2	1	0	2	3	2	3	1	1	1	1	1	1	8	7			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr10:96116974G>C	ENST00000371361.3	-	4	565	c.465C>G	c.(463-465)atC>atG	p.I155M	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.I155M	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	155						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTTTATCTTTGATAGGAAGTA	0.368													5	65					0	0	0	0	C	96116974	G	C	96116974	3	2	374	1	0	0	0	0	1	0	0	0	10584	1280	45	2	2009	2	NOC3L	10	96116974	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	6615894	96116974	39417773	124	72104											
TLL2	7093	broad.mit.edu	37	chr10	98173032	98173032	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatggttggcctgacgccaTtgtcatcttgacggggaagg	8	10	14	9	2	2	2	1	2	1	0	2	3	2	3	2	5	0	1	2	5	2	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr10:98173032T>A	ENST00000357947.3	-	8	1190	c.965A>T	c.(964-966)aAt>aTt	p.N322I	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	322	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTGACGCCATTGTCATCTTG	0.522													10	31					0	0	0	0	A	98173032	T	A	98173032	3	1	374	1	0	0	0	0	1	0	0	0	16040	1493	52	5	2138	5	TLL2	10	98173032	Missense_Mutation	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	2056058	98173032	37361715	125	72105											
OR51L1	119682	broad.mit.edu	37	chr11	5020812	5020812	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaccaacagtatttaTgggctttgtgtagtcattgc	9	13	11	8	0	1	0	1	0	0	0	1	1	1	1	2	2	2	3	2	2	4	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:5020812T>A	ENST00000321543.1	+	1	600	c.600T>A	c.(598-600)taT>taA	p.Y200*		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	200					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)		ACAGTATTTATGGGCTTTGTG	0.428													8	55					0	0	0	0	A	5020812	T	A	5020812	4	1	374	1	0	0	0	0	0	1	0	0	11173	1471	51	5	602	5	OR51L1	11	5020812	Nonsense_Mutation	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08		5020812	129985704	126	72106											
APBB1	322	broad.mit.edu	37	chr11	6422225	6422225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaggacacacataccaacagGtttagcaacaggtacattcc	16	7	7	11	0	0	0	0	0	0	0	1	1	1	1	2	3	5	3	2	3	6	5	rs147235391		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:6422225G>A	ENST00000389906.2	-	11	1765	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S	APBB1_ENST00000311051.3_Missense_Mutation_p.P554S|APBB1_ENST00000299402.6_Missense_Mutation_p.P554S|APBB1_ENST00000530885.1_Missense_Mutation_p.P334S|APBB1_ENST00000524626.1_5'UTR	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	556	PID 2.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATACCAACAGGTTTAGCAACA	0.478													15	192					0	0	0	0	A	6422225	G	A	6422225	3	1	374	1	0	0	0	0	1	0	0	0	760	1261	44	4	482	4	APBB1	11	6422225	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	1401413	6422225	128584291	127	72107											
SLC17A6	57084	broad.mit.edu	37	chr11	22387132	22387132	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatgttttggcttttggTgtcttatgaaagtcctgcaa	8	17	10	6	0	1	1	0	1	1	0	2	1	2	1	1	2	2	4	1	2	4	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:22387132T>A	ENST00000263160.3	+	7	1225	c.788T>A	c.(787-789)gTg>gAg	p.V263E		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	263					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGGCTTTTGGTGTCTTATGAA	0.403													8	57					0	0	0	0	A	22387132	T	A	22387132	3	1	374	1	0	0	0	0	1	0	0	0	14509	1696	59	5	814	5	SLC17A6	11	22387132	Missense_Mutation	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	15964907	22387132	112619384	128	72108											
OR5AK2	390181	broad.mit.edu	37	chr11	56756711	56756711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttagtttatgcaacatttgCaaccagtgactgttatctcc	10	15	6	10	0	1	1	0	1	1	0	2	1	1	1	2	0	4	4	2	0	5	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:56756711C>G	ENST00000326855.2	+	1	365	c.323C>G	c.(322-324)gCa>gGa	p.A108G		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GCAACATTTGCAACCAGTGAC	0.423													11	74					0	0	0	0	G	56756711	C	G	56756711	3	3	374	1	0	0	0	0	1	0	0	0	11213	710	25	4	325	4	OR5AK2	11	56756711	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	34369579	56756711	78249805	129	72109											
FAM111A	63901	broad.mit.edu	37	chr11	58920123	58920123	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatggggaaacattatttGaattgcatagaacaacgttt	17	12	8	4	1	0	2	0	1	0	1	0	3	0	3	0	2	4	2	0	2	8	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:58920123G>C	ENST00000528737.1	+	5	3800	c.982G>C	c.(982-984)Gaa>Caa	p.E328Q	FAM111A_ENST00000531147.1_Missense_Mutation_p.E328Q|FAM111A_ENST00000361723.3_Missense_Mutation_p.E328Q|FAM111A_ENST00000420244.1_Missense_Mutation_p.E328Q|FAM111A_ENST00000533703.1_Missense_Mutation_p.E328Q			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	328					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AACATTATTTGAATTGCATAG	0.323													7	56					0	0	0	0	C	58920123	G	C	58920123	3	2	374	1	0	0	0	0	1	0	0	0	5440	1291	45	2	988	2	FAM111A	11	58920123	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	2163412	58920123	76086393	130	72110											
POLA2	23649	broad.mit.edu	37	chr11	65064728	65064728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatgcattgctgtgcaggtCgtcaggatctgaggcttctg	6	12	13	10	1	3	1	1	1	2	0	4	2	3	2	1	3	3	4	1	3	0	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:65064728C>T	ENST00000265465.3	+	18	2316	c.1785C>T	c.(1783-1785)gtC>gtT	p.V595V	POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	595					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTGTGCAGGTCGTCAGGATCT	0.582													9	33					0	0	0	0	T	65064728	C	T	65064728	2	4	374	1	0	0	0	0	0	0	0	1	12260	871	31	1		1	POLA2	11	65064728	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	6144605	65064728	69941788	131	72111											
FCHSD2	9873	broad.mit.edu	37	chr11	72553832	72553832	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattgctccctcaggaaaaGataactcatcatctgtctgg	11	13	7	10	0	5	1	3	0	2	1	6	2	6	2	1	2	2	1	1	2	4	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:72553832G>C	ENST00000409314.1	-	18	2000	c.1832C>G	c.(1831-1833)tCt>tGt	p.S611C	FCHSD2_ENST00000311172.7_Missense_Mutation_p.S531C|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000458644.2_Missense_Mutation_p.S451C|FCHSD2_ENST00000409263.1_Intron|FCHSD2_ENST00000409418.4_Missense_Mutation_p.S587C			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	587	SH3 2.						protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTCAGGAAAAGATAACTCATC	0.403													5	67					0	0	0	0	C	72553832	G	C	72553832	3	2	374	1	0	0	0	0	1	0	0	0	5835	942	33	2	478	2	FCHSD2	11	72553832	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	7489104	72553832	62452684	132	72112											
FOLR4	390243	broad.mit.edu	37	chr11	94040666	94040666	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accccagctgacctgtgtgaGaagacttggagcaattcctt	10	10	10	11	0	0	3	0	2	0	2	1	5	1	4	4	1	2	2	4	1	2	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:94040666G>C	ENST00000440961.2	+	4	584	c.540G>C	c.(538-540)gaG>gaC	p.E180D		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	187						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						ACCTGTGTGAGAAGACTTGGA	0.602													4	80					0	0	0	0	C	94040666	G	C	94040666	3	2	374	1	0	0	0	0	1	0	0	0	6029	933	33	2	554	2	FOLR4	11	94040666	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	21486834	94040666	40965850	133	72113											
MAML2	84441	broad.mit.edu	37	chr11	95826265	95826265	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatatgttggtcagttcattGaacagttcctgcagctcagg	9	13	11	8	0	3	1	3	1	0	0	4	2	4	1	1	2	3	5	1	2	2	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:95826265G>A	ENST00000524717.1	-	2	2214	c.930C>T	c.(928-930)ttC>ttT	p.F310F		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	310					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCAGTTCATTGAACAGTTCCT	0.453			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								6	74					0	0	0	0	A	95826265	G	A	95826265	2	1	374	1	0	0	0	0	0	0	0	1	9275	1281	45	2		2	MAML2	11	95826265	Silent	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	1785599	95826265	39180251	134	72114											
TRPC6	7225	broad.mit.edu	37	chr11	101347136	101347136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggaagcatgccaaaatGccatgaatctcgcaatgaat	14	10	8	9	1	1	2	0	2	1	0	2	3	1	3	2	1	3	2	2	1	6	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:101347136G>T	ENST00000344327.3	-	6	2064	c.1640C>A	c.(1639-1641)gCa>gAa	p.A547E	TRPC6_ENST00000360497.4_Missense_Mutation_p.A492E|TRPC6_ENST00000348423.4_Missense_Mutation_p.A431E|TRPC6_ENST00000532133.1_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	547					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATGCCAAAATGCCATGAATCT	0.408													4	71					0.00909568	0.00930803	1	0	T	101347136	G	T	101347136	3	4	374	1	0	0	0	0	1	0	0	0	16678	1319	46	4	1187	4	TRPC6	11	101347136	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	5520871	101347136	33659380	135	72115											
KIAA1377	57562	broad.mit.edu	37	chr11	101829032	101829032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggctactagcaaaaatGtgttccagcttaaactggag	12	11	9	9	0	0	0	0	0	0	0	1	1	1	1	2	2	4	4	2	2	6	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:101829032G>A	ENST00000263468.8	+	5	910	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	KIAA1377_ENST00000537689.1_Missense_Mutation_p.V15M	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	214							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TAGCAAAAATGTGTTCCAGCT	0.323													9	153					0	0	0	0	A	101829032	G	A	101829032	3	1	374	1	0	0	0	0	1	0	0	0	8278	1377	48	4	658	4	KIAA1377	11	101829032	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	481896	101829032	33177484	136	72116											
MMP10	4319	broad.mit.edu	37	chr11	102643601	102643601	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtatttgtccgctgcaaaGaagtatgttttcttcttttc	8	18	7	8	1	2	1	0	0	2	1	4	1	3	1	1	0	1	5	1	0	4	8			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:102643601G>C	ENST00000279441.4	-	8	1239	c.1203C>G	c.(1201-1203)ttC>ttG	p.F401L		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	401	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CCGCTGCAAAGAAGTATGTTT	0.383													9	136					0	0	0	0	C	102643601	G	C	102643601	3	2	374	1	0	0	0	0	1	0	0	0	9718	933	33	2	239	2	MMP10	11	102643601	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	814569	102643601	32362915	137	72117											
USP28	57646	broad.mit.edu	37	chr11	113679958	113679958	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacttctgacatttgatctGattcagttggggctgcctct	6	15	9	11	0	4	3	1	3	3	0	4	3	4	3	2	2	1	2	2	2	0	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:113679958G>C	ENST00000003302.4	-	17	2059	c.1991C>G	c.(1990-1992)tCa>tGa	p.S664*	USP28_ENST00000260188.5_Nonsense_Mutation_p.S664*|USP28_ENST00000545540.1_Nonsense_Mutation_p.S539*|USP28_ENST00000544967.1_Nonsense_Mutation_p.S372*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	664					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CATTTGATCTGATTCAGTTGG	0.428													16	253					0	0	0	0	C	113679958	G	C	113679958	4	2	374	1	0	0	0	0	0	1	0	0	17154	1294	45	2	1278	2	USP28	11	113679958	Nonsense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	11036357	113679958	21326558	138	72118											
NFRKB	4798	broad.mit.edu	37	chr11	129739840	129739840	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaaggggcactggctgaaCtggccttggcagggctatca	9	8	15	9	0	1	2	1	2	0	0	1	2	1	2	1	6	1	4	1	6	3	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:129739840C>G	ENST00000446488.3	-	23	3183	c.3080G>C	c.(3079-3081)aGt>aCt	p.S1027T	NFRKB_ENST00000524746.1_Missense_Mutation_p.S1027T|NFRKB_ENST00000524794.1_Missense_Mutation_p.S1052T|NFRKB_ENST00000304521.5_Missense_Mutation_p.S1027T	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1027					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACTGGCTGAACTGGCCTTGGC	0.542													6	87					0	0	0	0	G	129739840	C	G	129739840	3	3	374	1	0	0	0	0	1	0	0	0	10454	565	20	4	835	4	NFRKB	11	129739840	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	16059882	129739840	5266676	139	72119											
PRDM10	56980	broad.mit.edu	37	chr11	129794839	129794839	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagtagccatcattgatatGaatggccacatgatctttca	13	12	8	8	0	3	3	2	3	1	0	3	4	3	3	2	1	1	1	2	1	4	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr11:129794839G>C	ENST00000358825.5	-	13	2059	c.1828C>G	c.(1828-1830)Cat>Gat	p.H610D	PRDM10_ENST00000360871.3_Missense_Mutation_p.H606D|PRDM10_ENST00000528746.1_Missense_Mutation_p.H580D|PRDM10_ENST00000526082.1_Missense_Mutation_p.H524D|PRDM10_ENST00000423662.2_Missense_Mutation_p.H524D|PRDM10_ENST00000304538.6_Missense_Mutation_p.H520D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	610					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCATTGATATGAATGGCCACA	0.448													13	110					0	0	0	0	C	129794839	G	C	129794839	3	2	374	1	0	0	0	0	1	0	0	0	12531	1290	45	2	1694	2	PRDM10	11	129794839	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	54999	129794839	5211677	140	72120											
WNK1	65125	broad.mit.edu	37	chr12	936259	936259	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagttctaagaagctggtgCcgtcagatccttaaaggtct	12	11	10	8	1	3	2	1	0	2	2	4	2	4	2	2	2	2	2	2	2	5	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:936259C>G	ENST00000537687.1	+	3	1627	c.984C>G	c.(982-984)tgC>tgG	p.C328W	WNK1_ENST00000447667.2_Missense_Mutation_p.C328W|WNK1_ENST00000315939.6_Missense_Mutation_p.C328W|WNK1_ENST00000535572.1_Missense_Mutation_p.C328W|WNK1_ENST00000530271.2_Missense_Mutation_p.C328W	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	328	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.C328W(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAAGCTGGTGCCGTCAGATCC	0.388													8	89					0	0	0	0	G	936259	C	G	936259	3	3	374	1	0	0	0	0	1	0	0	0	17473	747	26	4	994	4	WNK1	12	936259	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08		936259	132915636	141	72121											
KCNA6	3742	broad.mit.edu	37	chr12	4919462	4919462	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctgaggaacgagtacttCttcgaccgcaaccggcccag	9	6	10	16	4	1	1	0	1	1	0	2	4	1	2	5	2	3	2	5	2	3	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:4919462C>G	ENST00000433855.1	+	1	1121	c.255C>G	c.(253-255)ttC>ttG	p.F85L	KCNA6_ENST00000280684.3_Missense_Mutation_p.F85L	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	85						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						ACGAGTACTTCTTCGACCGCA	0.632										HNSCC(72;0.22)			4	84					0	0	0	0	G	4919462	C	G	4919462	3	3	374	1	0	0	0	0	1	0	0	0	8060	912	32	2	257	2	KCNA6	12	4919462	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	3983203	4919462	128932433	142	72122											
FAM90A1	55138	broad.mit.edu	37	chr12	8374822	8374822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcggctggcggaggttggaGattctccggggcccccagct	4	8	17	12	3	1	1	0	0	1	1	2	3	1	2	3	7	2	3	3	7	0	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:8374822G>C	ENST00000538603.1	-	7	1549	c.991C>G	c.(991-993)Ctc>Gtc	p.L331V	FAM90A1_ENST00000307435.6_Missense_Mutation_p.L331V	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	331							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GGAGGTTGGAGATTCTCCGGG	0.647													6	22					0	0	0	0	C	8374822	G	C	8374822	3	2	374	1	0	0	0	0	1	0	0	0	5695	942	33	2	407	2	FAM90A1	12	8374822	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	3455360	8374822	125477073	143	72123											
ITPR2	3709	broad.mit.edu	37	chr12	26553161	26553161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggagagtgtcacacgtcCtttcaattccatcttcatac	11	13	6	11	1	4	1	3	0	1	1	6	2	6	1	2	1	1	0	2	1	3	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:26553161C>T	ENST00000381340.3	-	53	7846	c.7430G>A	c.(7429-7431)aGg>aAg	p.R2477K	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2477					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTCACACGTCCTTTCAATTCC	0.368													22	55					0	0	0	0	T	26553161	C	T	26553161	3	4	374	1	0	0	0	0	1	0	0	0	7974	681	24	4	695	4	ITPR2	12	26553161	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	18178339	26553161	107298734	144	72124											
POU6F1	5463	broad.mit.edu	37	chr12	51585524	51585524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaagttgatcccatcctCatccagacttggagtatgtg	9	14	8	10	0	2	2	1	1	1	1	5	3	5	3	3	1	0	2	3	1	2	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:51585524C>T	ENST00000389243.4	-	10	1354	c.415G>A	c.(415-417)Gag>Aag	p.E139K	POU6F1_ENST00000550824.1_Missense_Mutation_p.E139K|POU6F1_ENST00000333640.10_Missense_Mutation_p.E139K			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	139	Gln/Pro-rich.|POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						ATCCCATCCTCATCCAGACTT	0.542													6	105					0	0	0	0	T	51585524	C	T	51585524	3	4	374	1	0	0	0	0	1	0	0	0	12355	835	29	2	498	2	POU6F1	12	51585524	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	25032363	51585524	82266371	145	72125											
BAZ2A	11176	broad.mit.edu	37	chr12	56993873	56993873	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgaatgcgaggggtgatctCatatgatctggagggagaaa	13	8	15	5	2	2	3	1	2	2	1	3	7	2	4	0	4	1	0	0	4	3	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:56993873C>G	ENST00000179765.5	-	26	5009	c.4810G>C	c.(4810-4812)Gag>Cag	p.E1604Q	BAZ2A_ENST00000551812.1_Missense_Mutation_p.E1636Q|BAZ2A_ENST00000549884.1_Missense_Mutation_p.E1634Q|BAZ2A_ENST00000379441.3_Missense_Mutation_p.E1606Q			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1636					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGGGTGATCTCATATGATCTG	0.577													9	97					0	0	0	0	G	56993873	C	G	56993873	3	3	374	1	0	0	0	0	1	0	0	0	1335	835	29	2	831	2	BAZ2A	12	56993873	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	5408349	56993873	76858022	146	72126											
CYP27B1	1594	broad.mit.edu	37	chr12	58160780	58160780	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccaactcgggcgcccagcgGacgcgatggaacactctgga	9	4	13	15	5	1	0	0	0	1	0	2	4	1	3	2	4	3	0	2	4	2	0			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:58160780G>A	ENST00000228606.4	-	1	254	c.45C>T	c.(43-45)gtC>gtT	p.V15V	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	15					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GCGCCCAGCGGACGCGATGGA	0.612													5	118					0	0	0	0	A	58160780	G	A	58160780	2	1	374	1	0	0	0	0	0	0	0	1	4191	1161	41	2		2	CYP27B1	12	58160780	Silent	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	1166907	58160780	75691115	147	72127											
TMTC2	160335	broad.mit.edu	37	chr12	83360728	83360728	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtatacaaggaagcaattCagaaaatgccaaggcagttt	16	9	10	6	0	1	1	1	0	0	1	1	2	1	2	1	2	3	4	1	2	8	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:83360728C>T	ENST00000549919.1	+	8	3687	c.1882C>T	c.(1882-1884)Cag>Tag	p.Q628*	TMTC2_ENST00000321196.3_Nonsense_Mutation_p.Q634*			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	634						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGAAGCAATTCAGAAAATGCC	0.343													4	39					0	0	0	0	T	83360728	C	T	83360728	4	4	374	1	0	0	0	0	0	1	0	0	16355	827	29	2	1926	2	TMTC2	12	83360728	Nonsense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	25199948	83360728	50491167	148	72128											
TMTC3	160418	broad.mit.edu	37	chr12	88584324	88584324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatccgagcaaatgagtcccGactggaagaagcagatcagc	14	5	12	10	2	1	3	1	1	0	2	3	7	3	4	2	1	3	2	2	1	3	0			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:88584324G>A	ENST00000266712.6	+	12	1851	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	544						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AATGAGTCCCGACTGGAAGAA	0.433													6	50					0	0	0	0	A	88584324	G	A	88584324	3	1	374	1	0	0	0	0	1	0	0	0	16356	1058	37	1	1673	1	TMTC3	12	88584324	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	5223596	88584324	45267571	149	72129											
C12orf42	374470	broad.mit.edu	37	chr12	103795446	103795446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacaatgggaatatagcaaGgggatttctgaaacattaga	16	10	10	5	0	2	2	1	1	1	1	2	4	2	4	0	3	2	1	0	3	7	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:103795446G>A	ENST00000378113.2	-	3	311	c.86C>T	c.(85-87)cCt>cTt	p.P29L	C12orf42_ENST00000548883.1_Missense_Mutation_p.P29L|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000315192.8_Missense_Mutation_p.P29L|C12orf42_ENST00000548048.1_5'UTR	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	29										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AATATAGCAAGGGGATTTCTG	0.428													5	26					0	0	0	0	A	103795446	G	A	103795446	3	1	374	1	0	0	0	0	1	0	0	0	1700	1000	35	4	1012	4	C12orf42	12	103795446	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	15211122	103795446	30056449	150	72130											
TCTN1	79600	broad.mit.edu	37	chr12	111085594	111085594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgattcttatttccactgCggttacttttgtggatgtgt	6	18	10	7	2	1	0	0	0	1	0	2	3	2	1	1	2	2	1	1	2	2	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr12:111085594C>T	ENST00000551590.1	+	14	1817	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	TCTN1_ENST00000377654.3_3'UTR|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Missense_Mutation_p.A559V|TCTN1_ENST00000397655.3_Missense_Mutation_p.A540V			Q2MV58	TECT1_HUMAN	tectonic family member 1	554					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						ATTTCCACTGCGGTTACTTTT	0.493													14	30					0	0	0	0	T	111085594	C	T	111085594	3	4	374	1	0	0	0	0	1	0	0	0	15816	768	27	1	1902	1	TCTN1	12	111085594	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	7290148	111085594	22766301	151	72131											
FNDC3A	22862	broad.mit.edu	37	chr13	49720032	49720032	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggttatgaagttctgatctCaagtactggaaaagatggga	13	12	12	4	0	2	3	1	2	2	1	3	5	2	5	0	3	1	3	0	3	6	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr13:49720032C>G	ENST00000492622.2	+	8	1243	c.938C>G	c.(937-939)tCa>tGa	p.S313*	FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.S257*|FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.S313*	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	313	Fibronectin type-III 1.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTTCTGATCTCAAGTACTGGA	0.368													4	51					0	0	0	0	G	49720032	C	G	49720032	4	3	374	1	0	0	0	0	0	1	0	0	6014	838	29	2	975	2	FNDC3A	13	49720032	Nonsense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08		49720032	65449846	152	72132											
NEK5	341676	broad.mit.edu	37	chr13	52676401	52676401	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcttgacaaatcttcagaaCcagctgctgtaagttgttac	11	13	8	9	0	2	2	1	1	1	1	2	2	2	2	1	0	5	6	1	0	4	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr13:52676401C>G	ENST00000355568.4	-	10	776	c.637G>C	c.(637-639)Gtt>Ctt	p.V213L		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	213	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ATCTTCAGAACCAGCTGCTGT	0.388													12	133					0	0	0	0	G	52676401	C	G	52676401	3	3	374	1	0	0	0	0	1	0	0	0	10397	507	18	4	1541	4	NEK5	13	52676401	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	2956369	52676401	62493477	153	72133											
RNF113B	140432	broad.mit.edu	37	chr13	98828834	98828834	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctcccacccgagcttgtaAtcggaacggtcgtggaggaa	10	8	12	11	4	1	0	0	0	1	0	4	4	1	3	2	4	2	2	2	4	3	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr13:98828834A>G	ENST00000267291.6	-	1	685	c.657T>C	c.(655-657)gaT>gaC	p.D219D	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	219							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CGAGCTTGTAATCGGAACGGT	0.542													13	76					0	0	0	0	G	98828834	A	G	98828834	2	3	374	1	0	0	0	0	0	0	0	1	13513	98	4	5		5	RNF113B	13	98828834	Silent	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08	46152433	98828834	16341044	154	72134											
CUL4A	8451	broad.mit.edu	37	chr13	113893751	113893751	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactgcacatctcagggctCgaccacttactggatgagaa	11	9	10	11	1	1	1	1	1	1	1	3	4	1	2	1	2	3	3	1	2	3	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr13:113893751C>T	ENST00000451881.1	+	10	870	c.621C>T	c.(619-621)ctC>ctT	p.L207L	CUL4A_ENST00000375441.3_Silent_p.L207L|CUL4A_ENST00000375440.4_Silent_p.L307L|CUL4A_ENST00000326335.4_Silent_p.L207L	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	307					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TCTCAGGGCTCGACCACTTAC	0.557													5	63					0	0	0	0	T	113893751	C	T	113893751	2	4	374	1	0	0	0	0	0	0	0	1	4089	871	31	1		1	CUL4A	13	113893751	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	15064917	113893751	1276127	155	72135											
PARP2	10038	broad.mit.edu	37	chr14	20824776	20824776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatggcatggttccaggatGagtaactgggtgggaatctt	9	12	14	6	0	1	1	0	1	1	0	2	3	2	3	1	5	1	3	1	5	3	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr14:20824776G>A	ENST00000527915.1	+	13	1301	c.1296G>A	c.(1294-1296)atG>atA	p.M432I	PARP2_ENST00000250416.5_Missense_Mutation_p.M432I|PARP2_ENST00000429687.3_Missense_Mutation_p.M419I			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	432	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GTTCCAGGATGAGTAACTGGG	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					14	188					0	0	0	0	A	20824776	G	A	20824776	3	1	374	1	0	0	0	0	1	0	0	0	11532	1290	45	2	1346	2	PARP2	14	20824776	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08		20824776	86524764	156	72136											
RPL10L	140801	broad.mit.edu	37	chr14	47120595	47120595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttccaaaggcacctcgCatacctgtctggagcctgtc	7	11	10	13	1	1	0	0	0	1	0	4	1	2	1	4	3	2	3	4	3	2	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr14:47120595C>T	ENST00000298283.3	-	1	433	c.345G>A	c.(343-345)atG>atA	p.M115I		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	115					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AGGCACCTCGCATACCTGTCT	0.552													16	44					0	0	0	0	T	47120595	C	T	47120595	3	4	374	1	0	0	0	0	1	0	0	0	13641	710	25	4	303	4	RPL10L	14	47120595	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	26295819	47120595	60228945	157	72137											
NID2	22795	broad.mit.edu	37	chr14	52520354	52520354	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcatacgtccctcgacttaAgggtgtagtgtgacctgaag	9	11	11	10	2	1	2	1	2	0	0	3	3	2	2	2	1	1	1	2	1	4	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr14:52520354A>C	ENST00000216286.5	-	5	1371	c.1372T>G	c.(1372-1374)Tta>Gta	p.L458V	NID2_ENST00000541773.1_Missense_Mutation_p.L405V	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	458						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCTCGACTTAAGGGTGTAGTG	0.493													20	116					0	0	0	0	C	52520354	A	C	52520354	3	2	374	1	0	0	0	0	1	0	0	0	10485	69	3	5	2827	5	NID2	14	52520354	Missense_Mutation	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08	5399759	52520354	54829186	158	72138											
SGPP1	81537	broad.mit.edu	37	chr14	64165370	64165370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaatcagtccatatataaGagggtactaaaggggaaaaa	20	7	10	4	0	1	2	1	0	0	2	2	3	2	3	1	3	1	1	1	3	10	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr14:64165370G>C	ENST00000247225.6	-	2	785	c.691C>G	c.(691-693)Ctt>Gtt	p.L231V		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	231						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		CCATATATAAGAGGGTACTAA	0.303													3	38					0	0	0	0	C	64165370	G	C	64165370	3	2	374	1	0	0	0	0	1	0	0	0	14306	942	33	2	642	2	SGPP1	14	64165370	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	11645016	64165370	43184170	159	72139											
EML5	161436	broad.mit.edu	37	chr14	89093259	89093259	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcccttttttgctaagaaGagctcttcctgccagggtcc	7	13	9	12	0	1	2	0	0	1	2	3	2	3	2	4	1	4	2	4	1	3	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr14:89093259G>C	ENST00000554922.1	-	35	4911	c.4663C>G	c.(4663-4665)Ctt>Gtt	p.L1555V	EML5_ENST00000380664.5_Missense_Mutation_p.L1547V|EML5_ENST00000352093.5_Missense_Mutation_p.L1509V|EML5_ENST00000553320.1_5'UTR	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1547						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTGCTAAGAAGAGCTCTTCCT	0.458													4	76					0	0	0	0	C	89093259	G	C	89093259	3	2	374	1	0	0	0	0	1	0	0	0	5138	942	33	2	1310	2	EML5	14	89093259	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	24927889	89093259	18256281	160	72140											
DUOX2	50506	broad.mit.edu	37	chr15	45399636	45399636	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggtggtatttcggatgtCttcaatctccttcttggaga	7	15	11	8	1	4	1	1	0	3	1	6	3	4	2	1	4	0	1	1	4	2	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr15:45399636C>G	ENST00000389039.6	-	14	1985	c.1600G>C	c.(1600-1602)Gac>Cac	p.D534H	DUOX2_ENST00000603300.1_Missense_Mutation_p.D534H			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	534	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTTCGGATGTCTTCAATCTCC	0.552													11	87					0	0	0	0	G	45399636	C	G	45399636	3	3	374	1	0	0	0	0	1	0	0	0	4837	913	32	2	3130	2	DUOX2	15	45399636	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08		45399636	57131756	161	72141											
SQRDL	58472	broad.mit.edu	37	chr15	45974742	45974742	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagaccagtcctgtggctGatgctgctggttgggtggat	6	12	15	8	0	1	2	1	1	0	1	2	3	2	3	2	4	2	4	2	4	1	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr15:45974742G>C	ENST00000260324.7	+	7	1317	c.931G>C	c.(931-933)Gat>Cat	p.D311H	SQRDL_ENST00000568606.1_Missense_Mutation_p.D311H	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	311							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TCCTGTGGCTGATGCTGCTGG	0.468													6	49					0	0	0	0	C	45974742	G	C	45974742	3	2	374	1	0	0	0	0	1	0	0	0	15219	1290	45	2	953	2	SQRDL	15	45974742	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	575106	45974742	56556650	162	72142											
CEP152	22995	broad.mit.edu	37	chr15	49034200	49034200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatcaaataatatttgcgCatctttcgggcggtttcttg	10	15	8	8	3	3	0	1	0	2	0	4	0	3	0	0	2	1	2	0	2	4	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr15:49034200C>T	ENST00000380950.2	-	25	4120	c.3933G>A	c.(3931-3933)atG>atA	p.M1311I	CEP152_ENST00000325747.5_Missense_Mutation_p.M1218I|CEP152_ENST00000399334.3_Missense_Mutation_p.M1255I	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1255					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AATATTTGCGCATCTTTCGGG	0.438													6	111					0	0	0	0	T	49034200	C	T	49034200	3	4	374	1	0	0	0	0	1	0	0	0	3277	710	25	4	1211	4	CEP152	15	49034200	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	3059458	49034200	53497192	163	72143											
GCOM1	145781	broad.mit.edu	37	chr15	57924701	57924701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagctgtacagccagtatGaggagaagctgcaggaagaa	16	5	14	6	0	0	4	0	1	0	3	0	6	0	5	1	2	5	5	1	2	6	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr15:57924701G>C	ENST00000574161.1	+	7	867	c.748G>C	c.(748-750)Gag>Cag	p.E250Q	MYZAP_ENST00000267853.5_Missense_Mutation_p.E250Q|GCOM1_ENST00000380561.2_Missense_Mutation_p.E219Q|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000572390.1_Missense_Mutation_p.E250Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.E250Q|GCOM1_ENST00000587652.1_Missense_Mutation_p.E250Q|GCOM1_ENST00000396180.1_Missense_Mutation_p.E219Q|MYZAP_ENST00000380565.4_Missense_Mutation_p.E250Q|GCOM1_ENST00000380560.2_Missense_Mutation_p.E181Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.E250Q	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		250					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGCCAGTATGAGGAGAAGCT	0.493													6	66					0	0	0	0	C	57924701	G	C	57924701	3	2	374	1	0	0	0	0	1	0	0	0	6354	1291	45	2	774	2	GCOM1	15	57924701	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	8890501	57924701	44606691	164	72144											
UACA	55075	broad.mit.edu	37	chr15	70961172	70961172	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccaacttcgctgacaattcTtttgcctggccttccatctc	6	14	6	15	1	2	1	0	1	2	0	5	1	3	1	4	1	2	1	4	1	2	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr15:70961172T>A	ENST00000322954.6	-	16	2036	c.1851A>T	c.(1849-1851)aaA>aaT	p.K617N	UACA_ENST00000379983.2_Missense_Mutation_p.K604N|UACA_ENST00000560441.1_Missense_Mutation_p.K602N|UACA_ENST00000539319.1_Missense_Mutation_p.K508N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	617						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTGACAATTCTTTTGCCTGGC	0.378													5	70					0	0	0	0	A	70961172	T	A	70961172	3	1	374	1	0	0	0	0	1	0	0	0	16920	1606	56	5	2415	5	UACA	15	70961172	Missense_Mutation	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	13036471	70961172	31570220	165	72145											
HBM	3042	broad.mit.edu	37	chr16	216647	216647	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagttcaccgtgcaaatgcaAgcggcgtgggacaagttcct	10	8	13	10	3	1	0	1	0	0	0	2	2	2	1	2	2	3	4	2	2	3	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:216647A>G	ENST00000356815.3	+	3	386	c.366A>G	c.(364-366)caA>caG	p.Q122Q	HBM_ENST00000472539.1_3'UTR	NM_001003938.3	NP_001003938.1	Q6B0K9	HBM_HUMAN	hemoglobin, mu	122						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TGCAAATGCAAGCGGCGTGGG	0.602													4	22					0	0	0	0	G	216647	A	G	216647	2	3	374	1	0	0	0	0	0	0	0	1	7034	69	3	5		5	HBM	16	216647	Silent	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08		216647	90138106	166	72146											
TIGD7	91151	broad.mit.edu	37	chr16	3350076	3350076	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgacttccaaaagaggtctGtttcatccccactgtatagc	10	13	7	11	0	2	2	1	1	1	1	4	2	4	2	3	1	1	2	3	1	4	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:3350076G>C	ENST00000396862.1	-	2	2367	c.539C>G	c.(538-540)aCa>aGa	p.T180R	TIGD7_ENST00000268674.2_Missense_Mutation_p.T180R	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	180	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						aaagaggtctgtttcatcccc	0.398													44	148					0	0	0	0	C	3350076	G	C	3350076	3	2	374	1	0	0	0	0	1	0	0	0	15995	1377	48	4	1114	4	TIGD7	16	3350076	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	3133429	3350076	87004677	167	72147											
XYLT1	64131	broad.mit.edu	37	chr16	17202832	17202832	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggaagctctgctccatgTaggcattgcggaggggccca	7	9	14	11	1	2	0	0	0	2	0	3	2	3	2	2	5	3	4	2	5	2	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:17202832T>A	ENST00000261381.6	-	12	2684	c.2600A>T	c.(2599-2601)tAc>tTc	p.Y867F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	867					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGCTCCATGTAGGCATTGCG	0.582													7	57					0	0	0	0	A	17202832	T	A	17202832	3	1	374	1	0	0	0	0	1	0	0	0	17559	1638	57	5	283	5	XYLT1	16	17202832	Missense_Mutation	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	13852756	17202832	73151921	168	72148											
RPS15A	6210	broad.mit.edu	37	chr16	18796121	18796121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtctttgagttgcacgtCaaatctggggctgatcaccc	8	11	11	11	1	4	2	2	2	2	0	4	2	4	2	1	3	1	3	1	3	1	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:18796121C>T	ENST00000322989.4	-	4	333	c.238G>A	c.(238-240)Gac>Aac	p.D80N	RPS15A_ENST00000569083.1_Missense_Mutation_p.D80N|RPS15A_ENST00000565420.1_Missense_Mutation_p.D80N|RPS15A_ENST00000575669.1_5'UTR|RPS15A_ENST00000576436.1_Silent_p.*112*|RPS15A_ENST00000563390.1_Missense_Mutation_p.D80N	NM_001019.4	NP_001010.2	P62244	RS15A_HUMAN	ribosomal protein S15a	80					endocrine pancreas development|positive regulation of cell cycle|positive regulation of cell proliferation|response to virus|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2						AGTTGCACGTCAAATCTGGGG	0.378													16	85					0	0	0	0	T	18796121	C	T	18796121	3	4	374	1	0	0	0	0	1	0	0	0	13711	826	29	2	162	2	RPS15A	16	18796121	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	1593289	18796121	71558632	169	72149											
ACSM2A	123876	broad.mit.edu	37	chr16	20482884	20482884	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcctgcaagcctctgataTaatgtggaccatatcagaca	13	9	9	10	0	2	2	1	1	1	1	2	3	2	3	3	2	2	1	3	2	4	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:20482884T>C	ENST00000573854.1	+	6	881	c.767T>C	c.(766-768)aTa>aCa	p.I256T	ACSM2A_ENST00000417235.2_Missense_Mutation_p.I177T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.I256T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.I256T|ACSM2A_ENST00000536134.1_Missense_Mutation_p.I28T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.I256T|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	256					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCCTCTGATATAATGTGGACC	0.458													7	116					0	0	0	0	C	20482884	T	C	20482884	3	2	374	1	0	0	0	0	1	0	0	0	183	1406	49	5	785	5	ACSM2A	16	20482884	Missense_Mutation	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	1686763	20482884	69871869	170	72150											
LOC81691	81691	broad.mit.edu	37	chr16	20838439	20838439	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaactcaaagatgtacAgaggcagttaaaagcactgc	17	6	9	9	0	1	2	1	0	0	2	1	3	1	2	1	1	4	4	1	1	5	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:20838439A>G	ENST00000261377.6	+	9	1090	c.881A>G	c.(880-882)cAg>cGg	p.Q294R	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.Q294R|AC004381.6_ENST00000564274.1_Missense_Mutation_p.Q294R	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AAAGATGTACAGAGGCAGTTA	0.413													5	78					0	0	0	0	G	20838439	A	G	20838439	3	3	374	1	0	0	0	0	1	0	0	0	8954	188	7	5	911	5	LOC81691	16	20838439	Missense_Mutation	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08	355555	20838439	69516314	171	72151											
C16orf82	162083	broad.mit.edu	37	chr16	27078280	27078280	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctccccagagaggtcaCagccaacattcagaggcctc	11	6	8	16	0	3	2	2	0	1	2	5	3	3	2	5	2	2	0	5	2	1	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:27078280C>G	ENST00000505035.1	+	0	253				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN																			AGAGAGGTCACAGCCAACATT	0.552													5	62					0	0	0	0	G	27078280	C	G	27078280	1	3	374	0	1	0	0	0	0	0	0	0	1851	493	17	4		4	C16orf82	16	27078280	RNA	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	6239841	27078280	63276473	172	72152											
HIRIP3	8479	broad.mit.edu	37	chr16	30005994	30005994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcctcctcctcactgctctCctctcccctctgtgcgggca	2	13	6	20	1	4	0	1	0	3	0	9	0	7	0	6	1	2	2	6	1	0	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:30005994C>G	ENST00000279392.3	-	4	1302	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	158	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCACTGCTCTCCTCTCCCCTC	0.572													22	262					0	0	0	0	G	30005994	C	G	30005994	3	3	374	1	0	0	0	0	1	0	0	0	7171	864	30	2	1214	2	HIRIP3	16	30005994	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	2927714	30005994	60348759	173	72153											
CDH16	1014	broad.mit.edu	37	chr16	66945151	66945151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccctgcagggactgggCggtgtgcacctccccggaga	5	5	17	14	3	0	1	0	0	0	1	1	3	1	2	4	5	2	2	4	5	0	0			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:66945151C>T	ENST00000299752.4	-	14	2051	c.1858G>A	c.(1858-1860)Gcc>Acc	p.A620T	CDH16_ENST00000565796.1_Missense_Mutation_p.A620T|CDH16_ENST00000394055.3_Missense_Mutation_p.A620T|CDH16_ENST00000570262.1_Missense_Mutation_p.A540T|CDH16_ENST00000568632.1_Missense_Mutation_p.A523T	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	620	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGGACTGGGCGGTGTGCACC	0.627													3	25					0	0	0	0	T	66945151	C	T	66945151	3	4	374	1	0	0	0	0	1	0	0	0	3130	768	27	1	651	1	CDH16	16	66945151	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	36939157	66945151	23409602	174	72154											
ZNF23	7571	broad.mit.edu	37	chr16	71483713	71483713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtttcctgggaaaagtctCtttgaagttcaaatgataca	12	14	8	7	0	2	2	1	2	1	0	4	3	3	3	1	1	1	2	1	1	5	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:71483713C>G	ENST00000393539.2	-	6	1028	c.215G>C	c.(214-216)aGa>aCa	p.R72T	ZNF23_ENST00000357254.4_Missense_Mutation_p.R72T|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000358700.2_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.R14T|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.R72T|ZNF23_ENST00000428724.2_Missense_Mutation_p.R14T	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GGAAAAGTCTCTTTGAAGTTC	0.348													10	73					0	0	0	0	G	71483713	C	G	71483713	3	3	374	1	0	0	0	0	1	0	0	0	17878	913	32	2	1720	2	ZNF23	16	71483713	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	4538562	71483713	18871040	175	72155											
MLKL	197259	broad.mit.edu	37	chr16	74729256	74729256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcctgctgatcttcctgtgCccaggacgctccttggctta	5	13	9	14	1	1	1	0	1	1	0	4	2	4	2	4	2	2	3	4	2	1	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:74729256C>T	ENST00000308807.7	-	2	863	c.400G>A	c.(400-402)Gca>Aca	p.A134T	MLKL_ENST00000306247.7_Missense_Mutation_p.A134T	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	134							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCTTCCTGTGCCCAGGACGCT	0.542													8	92					0	0	0	0	T	74729256	C	T	74729256	3	4	374	1	0	0	0	0	1	0	0	0	9688	739	26	4	1086	4	MLKL	16	74729256	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	3245543	74729256	15625497	176	72156											
FOXL1	2300	broad.mit.edu	37	chr16	86613242	86613242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgcctcctccagcctcCgtccgcctttcaacgcttcc	3	10	7	21	4	1	0	1	0	0	0	6	0	6	0	9	1	2	1	9	1	1	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr16:86613242C>T	ENST00000320241.3	+	1	1128	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	305					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTCCAGCCTCCGTCCGCCTTT	0.672													3	18					0	0	0	0	T	86613242	C	T	86613242	3	4	374	1	0	0	0	0	1	0	0	0	6063	652	23	1	915	1	FOXL1	16	86613242	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	11883986	86613242	3741511	177	72157											
OR1A2	26189	broad.mit.edu	37	chr17	3101498	3101498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagtcttccaagttccatCtaccaagagtctattcaaag	13	11	5	12	0	4	1	1	0	3	1	6	1	6	1	3	0	1	1	3	0	5	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr17:3101498C>T	ENST00000381951.1	+	1	686	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CAAGTTCCATCTACCAAGAGT	0.448													9	151					0	0	0	0	T	3101498	C	T	3101498	3	4	374	1	0	0	0	0	1	0	0	0	11021	913	32	2	688	2	OR1A2	17	3101498	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08		3101498	78093712	178	72158											
CYB5D2	124936	broad.mit.edu	37	chr17	4047063	4047063	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tatatagatgttgaggtgcgGaggccgtgggcttttgttgg	6	14	17	4	2	0	2	0	1	0	1	0	3	0	3	1	5	1	3	1	5	3	7			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr17:4047063G>C	ENST00000301391.3	+	1	514	c.14G>C	c.(13-15)gGa>gCa	p.G5A	CYB5D2_ENST00000575251.1_Intron|CYB5D2_ENST00000573984.1_Intron	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	5					nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						TTGAGGTGCGGAGGCCGTGGG	0.627													5	93					0	0	0	0	C	4047063	G	C	4047063	3	2	374	1	0	0	0	0	1	0	0	0	4157	1174	41	2	16	2	CYB5D2	17	4047063	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	945565	4047063	77148147	179	72159											
TP53	7157	broad.mit.edu	37	chr17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttccttccactcggataAgatgctgaggaggggccaga	11	9	12	9	1	0	3	0	1	0	2	3	5	2	5	3	4	1	1	3	4	2	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr17:7578268A>C	ENST00000420246.2	-	6	713	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000269305.4_Missense_Mutation_p.L194R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACTCGGATAAGATGCTGAGG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	17					0	0	0	0	C	7578268	A	C	7578268	3	2	374	1	0	0	0	0	1	0	0	0	16476	72	3	5	713	5	TP53	17	7578268	Missense_Mutation	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08	3531205	7578268	73616942	180	72160											
ABHD15	116236	broad.mit.edu	37	chr17	27889898	27889898	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtggtctgggggtccaCacacggggtcgtcagcactg	6	8	17	10	2	2	0	1	0	1	0	4	1	3	0	1	5	1	1	1	5	0	0			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr17:27889898C>G	ENST00000307201.4	-	2	1258	c.1088G>C	c.(1087-1089)tGt>tCt	p.C363S	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	363						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						TGGGGGTCCACACACGGGGTC	0.612													6	70					0	0	0	0	G	27889898	C	G	27889898	3	3	374	1	0	0	0	0	1	0	0	0	81	478	17	4	322	4	ABHD15	17	27889898	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	20311630	27889898	53305312	181	72161											
FBXL20	84961	broad.mit.edu	37	chr17	37499496	37499496	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcactatttgagaacatcTgcaaaaacaaaatcatagtg	18	10	5	8	0	3	1	2	1	1	1	3	2	3	1	0	0	3	1	0	0	7	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr17:37499496T>C	ENST00000264658.6	-	2	303		c.e2-2		FBXL20_ENST00000583610.1_Splice_Site|FBXL20_ENST00000577399.1_Splice_Site|FBXL20_ENST00000394294.3_Splice_Site	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20							cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TGAGAACATCTGCAAAAACAA	0.308													6	26					0	0	0	0	C	37499496	T	C	37499496	5	2	374	1	0	0	0	0	0	0	1	0	5762	1594	55	5	1325	5	FBXL20	17	37499496	Splice_Site	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	9609598	37499496	43695714	182	72162											
MARCH10	162333	broad.mit.edu	37	chr17	60802416	60802416	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggggaacccccggctatctGacagatgcgacacaagtctc	10	7	11	13	2	2	2	0	1	2	1	3	4	2	3	2	3	2	1	2	3	3	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr17:60802416G>C	ENST00000544856.2	-	8	2362	c.1984C>G	c.(1984-1986)Cag>Gag	p.Q662E	RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.Q701E|MARCH10_ENST00000456609.2_Missense_Mutation_p.Q663E|MARCH10_ENST00000311269.5_Missense_Mutation_p.Q663E|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	663							ligase activity|zinc ion binding	p.Q663E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CCGGCTATCTGACAGATGCGA	0.552													4	64					0	0	0	0	C	60802416	G	C	60802416	3	2	374	1	0	0	0	0	1	0	0	0	9368	1299	45	2	459	2	MARCH10	17	60802416	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	23302920	60802416	20392794	183	72163											
RPTOR	57521	broad.mit.edu	37	chr17	78681790	78681790	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaacggggaggtctgggtCttcaacaaggtgggtgtgcc	7	9	17	8	1	4	0	2	0	2	0	4	1	4	1	1	6	3	0	1	6	3	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr17:78681790C>G	ENST00000306801.3	+	4	860	c.498C>G	c.(496-498)gtC>gtG	p.V166V	RPTOR_ENST00000544334.2_Silent_p.V166V|RPTOR_ENST00000570891.1_Silent_p.V166V|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	166					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGGTCTGGGTCTTCAACAAGG	0.602													4	23					0	0	0	0	G	78681790	C	G	78681790	2	3	374	1	0	0	0	0	0	0	0	1	13750	900	32	2		2	RPTOR	17	78681790	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	17879374	78681790	2513420	184	72164											
ARHGAP28	79822	broad.mit.edu	37	chr18	6870608	6870608	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgatgattttctggaaaaGaacattccaccagaggctga	14	10	10	7	0	1	5	0	3	1	2	2	7	2	6	2	2	1	1	2	2	3	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr18:6870608G>C	ENST00000419673.2	+	6	571	c.354G>C	c.(352-354)aaG>aaC	p.K118N	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.K277N|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.K225N|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.K113N|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.K100N|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.K118N|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.K118N|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.K277N	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	100					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TTCTGGAAAAGAACATTCCAC	0.294													4	65					0	0	0	0	C	6870608	G	C	6870608	3	2	374	1	0	0	0	0	1	0	0	0	879	933	33	2	372	2	ARHGAP28	18	6870608	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08		6870608	71206640	185	72165											
DCC	1630	broad.mit.edu	37	chr18	50977010	50977010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtgatttgcacccgaCgctcttcagcccagcagaga	8	9	11	13	2	2	2	1	1	1	1	2	4	2	2	2	1	3	4	2	1	0	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr18:50977010C>T	ENST00000442544.2	+	23	3986	c.3370C>T	c.(3370-3372)Cgc>Tgc	p.R1124C	DCC_ENST00000581580.1_Missense_Mutation_p.R759C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1124					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTGCACCCGACGCTCTTCAGC	0.488													6	35					0	0	0	0	T	50977010	C	T	50977010	3	4	374	1	0	0	0	0	1	0	0	0	4314	536	19	1	3460	1	DCC	18	50977010	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	44106402	50977010	27100238	186	72166											
ALPK2	115701	broad.mit.edu	37	chr18	56203977	56203977	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggaaatcaggtgcagaaaGagaaccctgctgggacaggc	13	6	14	8	0	1	2	1	0	0	2	1	5	1	4	1	4	3	2	1	4	3	1	rs112151030	byFrequency	TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr18:56203977G>C	ENST00000361673.3	-	5	3655	c.3442C>G	c.(3442-3444)Ctt>Gtt	p.L1148V	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1148							ATP binding|protein serine/threonine kinase activity			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						GGTGCAGAAAGAGAACCCTGC	0.517													7	134					0	0	0	0	C	56203977	G	C	56203977	3	2	374	1	0	0	0	0	1	0	0	0	545	942	33	2	3106	2	ALPK2	18	56203977	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	5226967	56203977	21873271	187	72167											
REXO1	57455	broad.mit.edu	37	chr19	1827499	1827499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttcttggtcccttccGgccgctctgccttgcgccgg	0	13	11	17	4	3	0	0	0	3	0	5	0	5	0	5	3	2	2	5	3	0	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:1827499G>A	ENST00000170168.4	-	2	1383	c.1289C>T	c.(1288-1290)cCg>cTg	p.P430L		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	430						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GGTCCCTTCCGGCCGCTCTGC	0.706													6	29					0	0	0	0	A	1827499	G	A	1827499	3	1	374	1	0	0	0	0	1	0	0	0	13323	1116	39	1	2436	1	REXO1	19	1827499	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08		1827499	57301484	188	72168											
CLEC17A	388512	broad.mit.edu	37	chr19	14710995	14710995	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatagctttgctgagcacGtgagttcttcccactgaacc	9	12	8	12	1	2	3	1	3	1	0	3	3	3	3	2	0	4	4	2	0	3	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:14710995G>T	ENST00000547437.1	+	12	971		c.e12+1		CLEC17A_ENST00000417570.1_Splice_Site|CLEC17A_ENST00000397439.2_Splice_Site	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A							cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										TGCTGAGCACGTGAGTTCTTC	0.498													7	25					8.12818e-05	8.58519e-05	1	0	T	14710995	G	T	14710995	5	4	374	1	0	0	0	0	0	0	1	0	3531	1159	40	3	886	3	CLEC17A	19	14710995	Splice_Site	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	12883496	14710995	44417988	189	72169											
CYP4F22	126410	broad.mit.edu	37	chr19	15651283	15651283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgagtgattatatctccGctatcattgaactgagcgct	11	13	9	8	2	2	5	1	4	1	1	3	5	2	5	1	0	2	2	1	0	4	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:15651283G>A	ENST00000269703.2	+	8	893	c.694G>A	c.(694-696)Gct>Act	p.A232T	CYP4F22_ENST00000601005.2_Missense_Mutation_p.A232T	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	232						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TTATATCTCCGCTATCATTGA	0.552													8	74					0	0	0	0	A	15651283	G	A	15651283	3	1	374	1	0	0	0	0	1	0	0	0	4221	1087	38	1	716	1	CYP4F22	19	15651283	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	940288	15651283	43477700	190	72170											
ZNF682	91120	broad.mit.edu	37	chr19	20117026	20117026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaaaggcttttccacattCttcacagttgtagggtttct	9	17	7	8	0	3	0	1	0	2	0	4	0	4	0	1	2	0	4	1	2	3	8			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:20117026C>T	ENST00000397165.2	-	4	1445	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	ZNF682_ENST00000595736.1_Missense_Mutation_p.E353K|ZNF682_ENST00000358523.5_Missense_Mutation_p.E397K|ZNF682_ENST00000397162.1_Missense_Mutation_p.E397K|ZNF682_ENST00000597972.1_Missense_Mutation_p.E435K|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTCCACATTCTTCACAGTTG	0.388													3	46					0	0	0	0	T	20117026	C	T	20117026	3	4	374	1	0	0	0	0	1	0	0	0	18184	922	32	2	215	2	ZNF682	19	20117026	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	4465743	20117026	39011957	191	72171											
ZNF257	113835	broad.mit.edu	37	chr19	22271673	22271673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagagaaaccctacaaatGtgaagagtgtggaaaagcct	18	7	10	6	0	0	3	0	1	0	2	0	5	0	4	2	1	3	0	2	1	8	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:22271673G>A	ENST00000594947.1	+	4	1265	c.1121G>A	c.(1120-1122)tGt>tAt	p.C374Y		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCCTACAAATGTGAAGAGTGT	0.378													5	25					0	0	0	0	A	22271673	G	A	22271673	3	1	374	1	0	0	0	0	1	0	0	0	17895	1377	48	4	1135	4	ZNF257	19	22271673	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	2154647	22271673	36857310	192	72172											
PAF1	54623	broad.mit.edu	37	chr19	39880712	39880712	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattccttagtctcacctgTtctggtcgaaggggtaggtg	6	13	12	10	1	2	0	1	0	2	0	5	1	3	0	3	4	0	2	3	4	3	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:39880712T>C	ENST00000221265.3	-	3	497	c.167A>G	c.(166-168)aAc>aGc	p.N56S	PAF1_ENST00000221266.7_Missense_Mutation_p.N46S|PAF1_ENST00000595564.1_Missense_Mutation_p.N46S	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	56					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GTCTCACCTGTTCTGGTCGAA	0.527													7	105					0	0	0	0	C	39880712	T	C	39880712	3	2	374	1	0	0	0	0	1	0	0	0	11454	1725	60	5	1476	5	PAF1	19	39880712	Missense_Mutation	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	17609039	39880712	19248271	193	72173											
MED29	55588	broad.mit.edu	37	chr19	39883133	39883133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttgcggcccaaaacttGattcagaacactaacatcga	15	8	8	10	2	1	2	1	1	0	1	2	3	1	2	1	2	4	1	1	2	5	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:39883133G>T	ENST00000315588.5	+	2	358	c.309G>T	c.(307-309)ttG>ttT	p.L103F	MED29_ENST00000594368.1_Missense_Mutation_p.L82F|MED29_ENST00000599213.2_Missense_Mutation_p.L82F	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCCAAAACTTGATTCAGAACA	0.423													17	28					7.45023e-12	8.44573e-12	1	0	T	39883133	G	T	39883133	3	4	374	1	0	0	0	0	1	0	0	0	9516	1281	45	2	315	2	MED29	19	39883133	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	2421	39883133	19245850	194	72174											
SPTBN4	57731	broad.mit.edu	37	chr19	41061990	41061990	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctccatgtcccccttcagCgagcagatcagccggcggca	7	6	10	18	3	2	1	2	0	0	1	4	2	4	1	5	2	3	2	5	2	0	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:41061990C>T	ENST00000352632.3	+	25	5171	c.5084_splice	c.e25-1	p.S1695_splice	SPTBN4_ENST00000598249.1_Splice_Site_p.S1695_splice|SPTBN4_ENST00000595535.1_Splice_Site_p.S1695_splice|SPTBN4_ENST00000392023.1_Splice_Site_p.S371_splice|SPTBN4_ENST00000392025.1_Splice_Site_p.S438_splice|SPTBN4_ENST00000338932.3_Splice_Site_p.S1695_splice			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1695					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCCCTTCAGCGAGCAGATCA	0.657													5	8					0	0	0	0	T	41061990	C	T	41061990	5	4	374	1	0	0	0	0	0	0	1	0	15211	782	27	1	5179	1	SPTBN4	19	41061990	Splice_Site	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	1178857	41061990	18066993	195	72175											
PLA2G4C	8605	broad.mit.edu	37	chr19	48588339	48588339	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaataaggtgtccaatgcttTtagcattagcaacagccctt	13	12	7	9	0	0	0	0	0	0	0	1	0	1	0	2	1	5	3	2	1	6	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:48588339T>C	ENST00000354276.3	-	10	1148	c.821A>G	c.(820-822)aAa>aGa	p.K274R	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.K274R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.K284R|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.K274R	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	274	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCCAATGCTTTTAGCATTAGC	0.373													4	44					0	0	0	0	C	48588339	T	C	48588339	3	2	374	1	0	0	0	0	1	0	0	0	12075	1841	64	5	840	5	PLA2G4C	19	48588339	Missense_Mutation	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	7526349	48588339	10540644	196	72176											
LIN7B	64130	broad.mit.edu	37	chr19	49619650	49619650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaactcgcccatctacatctCccgggtcatcccagggggtg	8	8	10	15	2	3	0	1	0	2	0	6	0	4	0	3	3	2	0	3	3	2	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:49619650C>T	ENST00000221459.2	+	4	403	c.359C>T	c.(358-360)tCc>tTc	p.S120F	LIN7B_ENST00000391864.3_Intron	NM_022165.2	NP_071448.1	Q9HAP6	LIN7B_HUMAN	lin-7 homolog B (C. elegans)	120	PDZ.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding			central_nervous_system(1)|endometrium(1)|prostate(1)	3		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		ATCTACATCTCCCGGGTCATC	0.607													22	26					0	0	0	0	T	49619650	C	T	49619650	3	4	374	1	0	0	0	0	1	0	0	0	8866	855	30	2	373	2	LIN7B	19	49619650	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	1031311	49619650	9509333	197	72177											
LILRB2	10288	broad.mit.edu	37	chr19	54783471	54783471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcaccacagggctgggCtgggctgagagggtgggttt	6	8	20	7	0	1	1	1	1	0	1	1	3	1	1	1	6	0	4	1	6	0	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:54783471C>A	ENST00000391748.1	-	5	514	c.387G>T	c.(385-387)caG>caT	p.Q129H	LILRB2_ENST00000314446.5_Missense_Mutation_p.Q129H|LILRB2_ENST00000391746.1_Missense_Mutation_p.Q129H|LILRB2_ENST00000391749.4_Missense_Mutation_p.Q129H|LILRB2_ENST00000434421.1_Missense_Mutation_p.Q13H	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	129	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGGCTGGGCTGGGCTGAGA	0.587													25	91					4.59853e-10	5.12463e-10	1	0	A	54783471	C	A	54783471	3	1	374	1	0	0	0	0	1	0	0	0	8845	796	28	4	1449	4	LILRB2	19	54783471	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	5163821	54783471	4345512	198	72178											
ZNF606	80095	broad.mit.edu	37	chr19	58490029	58490029	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtttctcaccagtgtgAattctccgatgagcaacaag	11	11	10	9	1	2	2	1	2	2	0	4	3	2	2	2	1	2	2	2	1	4	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:58490029A>T	ENST00000341164.4	-	7	2639	c.2019T>A	c.(2017-2019)atT>atA	p.I673I	ZNF606_ENST00000536132.1_Silent_p.I583I	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CACCAGTGTGAATTCTCCGAT	0.408													11	76					0	0	0	0	T	58490029	A	T	58490029	2	4	374	1	0	0	0	0	0	0	0	1	18127	242	9	5		5	ZNF606	19	58490029	Silent	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08	3706558	58490029	638954	199	72179											
ZNF544	27300	broad.mit.edu	37	chr19	58757773	58757773	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggtgacactggagacctGggagcatattgtctccctgg	9	9	14	9	0	1	3	0	1	1	2	2	5	1	4	2	4	1	1	2	4	1	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr19:58757773G>A	ENST00000599227.1	+	5	724	c.140G>A	c.(139-141)tGg>tAg	p.W47*	ZNF544_ENST00000333581.5_Nonsense_Mutation_p.W47*|ZNF544_ENST00000596825.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.W47*|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596652.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000269829.4_Nonsense_Mutation_p.W47*|ZNF544_ENST00000600220.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000595981.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000594384.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000596929.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000599953.1_5'UTR|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000600044.1_Nonsense_Mutation_p.W47*			Q6NX49	ZN544_HUMAN	zinc finger protein 544	47	KRAB.				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)		CTGGAGACCTGGGAGCATATT	0.552													19	81					0	0	0	0	A	58757773	G	A	58757773	4	1	374	1	0	0	0	0	0	1	0	0	18072	1357	47	4	146	4	ZNF544	19	58757773	Nonsense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	267744	58757773	371210	200	72180											
SNPH	9751	broad.mit.edu	37	chr20	1285974	1285974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccgatgacacactgagccGgacggacgcgctggaagcca	11	3	14	13	5	0	2	0	2	0	0	0	6	0	5	3	3	3	1	3	3	1	0	rs144751280		TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr20:1285974G>A	ENST00000381867.1	+	7	1535	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	SNPH_ENST00000381873.3_Missense_Mutation_p.R254Q			O15079	SNPH_HUMAN	syntaphilin	254					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACACTGAGCCGGACGGACGCG	0.687													6	41					0	0	0	0	A	1285974	G	A	1285974	3	1	374	1	0	0	0	0	1	0	0	0	14938	1116	39	1	775	1	SNPH	20	1285974	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08		1285974	61739546	201	72181											
FAM83C	128876	broad.mit.edu	37	chr20	33879620	33879620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcctggctgaaaaggaagCgcagcaggtccttgatgttc	9	8	15	9	1	0	2	0	2	0	0	2	3	1	3	2	4	2	4	2	4	3	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr20:33879620C>T	ENST00000374408.3	-	1	584	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	163										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAAAAGGAAGCGCAGCAGGTC	0.612													16	93					0	0	0	0	T	33879620	C	T	33879620	3	4	374	1	0	0	0	0	1	0	0	0	5681	768	27	1	1771	1	FAM83C	20	33879620	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	32593646	33879620	29145900	202	72182											
KIAA1755	85449	broad.mit.edu	37	chr20	36841585	36841585	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggaagaaggtggtggcAagcaaatgctcgcgggcagg	10	5	18	8	3	0	1	0	0	0	1	1	2	0	2	1	6	3	4	1	6	4	0			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr20:36841585A>G	ENST00000279024.4	-	14	3733	c.3462T>C	c.(3460-3462)ctT>ctC	p.L1154L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1154										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AGGTGGTGGCAAGCAAATGCT	0.657													15	44					0	0	0	0	G	36841585	A	G	36841585	2	3	374	1	0	0	0	0	0	0	0	1	8308	117	5	5		5	KIAA1755	20	36841585	Silent	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08	2961965	36841585	26183935	203	72183											
LAMA5	3911	broad.mit.edu	37	chr20	60886035	60886035	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggccttccatctgtgcaaCgaagtggccattgctcagga	9	9	12	11	1	2	0	1	0	1	0	3	3	3	1	3	3	3	2	3	3	2	2			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr20:60886035C>G	ENST00000252999.3	-	74	10270	c.10204G>C	c.(10204-10206)Gtt>Ctt	p.V3402L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3402	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCTGTGCAACGAAGTGGCCA	0.697													3	36					0	0	0	0	G	60886035	C	G	60886035	3	3	374	1	0	0	0	0	1	0	0	0	8662	536	19	3	911	3	LAMA5	20	60886035	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	24044450	60886035	2139485	204	72184											
KRTAP12-3	386683	broad.mit.edu	37	chr21	46077981	46077981	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgctatgtgcccgtgAgctgccagtcctccgtgtgc	4	11	11	15	2	0	1	0	1	0	0	3	1	3	1	5	0	5	2	5	0	1	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr21:46077981A>T	ENST00000397907.1	+	1	133	c.85A>T	c.(85-87)Agc>Tgc	p.S29C	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	29	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTGCCCGTGAGCTGCCAGTC	0.677													14	89					0	0	0	0	T	46077981	A	T	46077981	3	4	374	1	0	0	0	0	1	0	0	0	8572	304	11	5	87	5	KRTAP12-3	21	46077981	Missense_Mutation	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08		46077981	2051914	205	72185											
PTTG1IP	754	broad.mit.edu	37	chr21	46281125	46281125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttacaaagggaagccGgtggcaagacgcttgtaact	13	9	11	8	2	1	1	1	0	0	1	1	2	1	2	1	3	3	3	1	3	6	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chr21:46281125G>A	ENST00000330938.3	-	3	450	c.230C>T	c.(229-231)cCg>cTg	p.P77L	PTTG1IP_ENST00000397886.3_Missense_Mutation_p.P56L|PTTG1IP_ENST00000397887.3_Missense_Mutation_p.P77L|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	77	PSI.				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		AAGGGAAGCCGGTGGCAAGAC	0.433													8	43					0	0	0	0	A	46281125	G	A	46281125	3	1	374	1	0	0	0	0	1	0	0	0	12902	1116	39	1	328	1	PTTG1IP	21	46281125	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	203144	46281125	1848770	206	72186											
PDK3	5165	broad.mit.edu	37	chrX	24521477	24521477	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgattaaagtcagaaatagAcacaatgatgtggttcctac	15	11	8	7	0	1	4	1	2	0	2	2	4	2	4	1	1	1	1	1	1	6	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chrX:24521477A>T	ENST00000441463.2	+	4	354	c.354A>T	c.(352-354)agA>agT	p.R118S	PDK3_ENST00000379162.4_Missense_Mutation_p.R118S	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	118					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCAGAAATAGACACAATGATG	0.403													8	15					0	0	0	0	T	24521477	A	T	24521477	3	4	374	1	0	0	0	0	1	0	0	0	11748	272	10	5	368	5	PDK3	23	24521477	Missense_Mutation	SNP	A	TCGA-D6-A4ZB-01A-11D-A25D-08		24521477	130749083	207	72187											
TAB3	257397	broad.mit.edu	37	chrX	30872591	30872591	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggctgtgtacagtgaGtgttgattccatggagatgg	7	13	17	4	0	0	3	0	2	0	1	1	4	1	3	1	4	1	3	1	4	1	3			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chrX:30872591G>A	ENST00000378933.1	-	3	1368	c.1191C>T	c.(1189-1191)caC>caT	p.H397H	TAB3_ENST00000288422.2_Silent_p.H397H|TAB3_ENST00000378932.2_Silent_p.H397H|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Silent_p.H397H	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	397	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGTACAGTGAGTGTTGATTCC	0.413													8	69					0	0	0	0	A	30872591	G	A	30872591	2	1	374	1	0	0	0	0	0	0	0	1	15588	1020	36	4		4	TAB3	23	30872591	Silent	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	6351114	30872591	124397969	208	72188											
AKAP4	8852	broad.mit.edu	37	chrX	49957773	49957773	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaagcattgatcttttCtcctttctcatctttattgc	6	20	6	9	0	4	1	1	1	4	0	6	2	4	2	1	1	2	1	1	1	2	7			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chrX:49957773C>A	ENST00000376056.2	-	5	1714	c.1564G>T	c.(1564-1566)Gaa>Taa	p.E522*	AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Nonsense_Mutation_p.E522*|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Nonsense_Mutation_p.E531*			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	531					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTGATCTTTTCTCCTTTCTCA	0.463													7	58					8.12818e-05	8.58519e-05	1	0	A	49957773	C	A	49957773	4	1	374	1	0	0	0	0	0	1	0	0	453	922	32	2	981	2	AKAP4	23	49957773	Nonsense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	19085182	49957773	105312787	209	72189											
NXF2B	728343	broad.mit.edu	37	chrX	101623790	101623790	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgacaaatatacatatcTgcaggaaggcagggtggtaa	15	9	12	5	0	1	1	0	1	1	0	1	3	1	2	0	4	2	3	0	4	6	5			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chrX:101623790T>C	ENST00000457521.2	-	19	2445		c.e19-2		NXF2B_ENST00000372750.1_Splice_Site|NXF2B_ENST00000412230.2_Splice_Site|NXF2B_ENST00000372752.1_Splice_Site|NXF2B_ENST00000372749.1_Splice_Site					nuclear RNA export factor 2B											breast(1)|kidney(1)|lung(4)|ovary(1)	7						TATACATATCTGCAGGAAGGC	0.493													4	39					0	0	0	0	C	101623790	T	C	101623790	5	2	374	1	0	0	0	0	0	0	1	0	10855	1594	55	5	3337	5	NXF2B	23	101623790	Splice_Site	SNP	T	TCGA-D6-A4ZB-01A-11D-A25D-08	51666017	101623790	53646770	210	72190											
SLC6A14	11254	broad.mit.edu	37	chrX	115582732	115582732	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgccattgtggtttgtttGacaaactgtctcactagcgt	8	15	10	8	1	1	1	1	1	1	0	2	2	1	1	1	1	3	2	1	1	2	4			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chrX:115582732G>C	ENST00000371900.4	+	8	1144	c.1056G>C	c.(1054-1056)ttG>ttC	p.L352F		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	352					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGGTTTGTTTGACAAACTGTC	0.383													6	53					0	0	0	0	C	115582732	G	C	115582732	3	2	374	1	0	0	0	0	1	0	0	0	14765	1281	45	2	1086	2	SLC6A14	23	115582732	Missense_Mutation	SNP	G	TCGA-D6-A4ZB-01A-11D-A25D-08	13958942	115582732	39687828	211	72191											
DDX26B	203522	broad.mit.edu	37	chrX	134679459	134679459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcatttgatttgttaaatCtcaatagattaatatctgga	13	17	5	6	0	3	2	2	1	2	1	4	3	3	3	1	1	0	1	1	1	6	6			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chrX:134679459C>G	ENST00000370752.4	+	3	635	c.301C>G	c.(301-303)Ctc>Gtc	p.L101V	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	101	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTTAAATCTCAATAGATT	0.343													5	40					0	0	0	0	G	134679459	C	G	134679459	3	3	374	1	0	0	0	0	1	0	0	0	4385	913	32	2	311	2	DDX26B	23	134679459	Missense_Mutation	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	19096727	134679459	20591101	212	72192											
TAZ	6901	broad.mit.edu	37	chrX	153648522	153648522	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccctgctccaccccaCgtctggccttctgtccactg	3	10	9	19	1	2	0	0	0	2	0	4	0	4	0	6	2	2	2	6	2	0	1			TCGA-D6-A4ZB-01A-11D-A25D-08	TCGA-D6-A4ZB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20d11092-524f-4f37-b719-86a2d26c6623	97e2d630-2d6e-468b-b029-bf142f618a4c	g.chrX:153648522C>T	ENST00000369776.4	+	5	613	c.528C>T	c.(526-528)caC>caT	p.H176H	TAZ_ENST00000351413.4_Intron|TAZ_ENST00000299328.5_Intron|TAZ_ENST00000350743.4_Intron|TAZ_ENST00000498029.1_Intron|TAZ_ENST00000369790.4_Intron			Q16635	TAZ_HUMAN	tafazzin	215	Hydrophilic.				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCCACCCCACGTCTGGCCTT	0.642													10	92					0	0	0	0	T	153648522	C	T	153648522	2	4	374	1	0	0	0	0	0	0	0	1	15687	551	19	1		1	TAZ	23	153648522	Silent	SNP	C	TCGA-D6-A4ZB-01A-11D-A25D-08	18969063	153648522	1622038	213	72193											
PRDM16	63976	broad.mit.edu	37	chr1	3328722	3328722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtttgggggcggcttggCgcccccgggggccccgaaca	5	5	17	14	4	0	0	0	0	0	0	0	1	0	0	4	6	1	2	4	6	2	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:3328722C>T	ENST00000378398.3	+	10	2046	c.1964C>T	c.(1963-1965)gCg>gTg	p.A655V	PRDM16_ENST00000514189.1_Missense_Mutation_p.A655V|PRDM16_ENST00000511072.1_Missense_Mutation_p.A655V|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.A654V|PRDM16_ENST00000441472.2_Missense_Mutation_p.A654V|PRDM16_ENST00000378391.2_Missense_Mutation_p.A654V|PRDM16_ENST00000270722.5_Missense_Mutation_p.A654V			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	654					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCGGCTTGGCGCCCCCGGGG	0.682			T	EVI1	"MDS, AML"								27	65					0	0	0	0	T	3328722	C	T	3328722	3	4	375	1	0	0	0	0	1	0	0	0	12537	768	27	1	1995	1	PRDM16	1	3328722	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08		3328722	245921899	1	72194											
TNFRSF25	8718	broad.mit.edu	37	chr1	6526162	6526162	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagccccgcggccgctgCtccatagccctccgacgggc	4	4	13	20	6	0	0	0	0	0	0	2	1	2	0	6	2	3	3	6	2	1	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:6526162C>T	ENST00000377782.3	-	1	73	c.6G>A	c.(4-6)gaG>gaA	p.E2E	TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000348333.3_Silent_p.E2E|PLEKHG5_ENST00000340850.5_3'UTR|PLEKHG5_ENST00000400913.1_3'UTR|PLEKHG5_ENST00000377748.1_3'UTR|TNFRSF25_ENST00000356876.3_Silent_p.E2E|TNFRSF25_ENST00000351748.3_Silent_p.E2E|TNFRSF25_ENST00000351959.5_Silent_p.E2E	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	2					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GCGGCCGCTGCTCCATAGCCC	0.746													6	10					0	0	0	0	T	6526162	C	T	6526162	2	4	375	1	0	0	0	0	0	0	0	1	16390	796	28	4		4	TNFRSF25	1	6526162	Silent	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	3197440	6526162	242724459	2	72195											
C1orf216	127703	broad.mit.edu	37	chr1	36181873	36181874	+	Frame_Shift_Ins	INS	-	-	C																															acataatccaggaggtgggtINScccccaggaattggcccccc																										TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:36181873_36181874insC	ENST00000270815.4	-	2	819_820	c.49_50insG	c.(49-51)cccfs	p.P17fs	C1orf216_ENST00000503824.1_5'UTR	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	17								p.D17Y(1)		kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AGGAGGTGGGTCCCCCAGGAAT	0.574											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	31	---	---	---	---					C	36181874	-	C	36181873	7	5	375	1	0	1	1	0	0	0	0	0	2051	1667	58	0	643	0	C1orf216	1	36181873	Frame_Shift_Ins	INS	-	TCGA-D6-A6EK-01A-11D-A31L-08	29655711	36181873	213068748	3	72196											
ZNF684	127396	broad.mit.edu	37	chr1	41012488	41012488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttatgaatgcagtgaatgcGggaaagccttcaaaaagaag	16	8	11	6	1	1	3	1	2	0	1	1	4	1	4	1	1	3	1	1	1	7	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:41012488G>T	ENST00000372699.3	+	5	744	c.493G>T	c.(493-495)Ggg>Tgg	p.G165W	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CAGTGAATGCGGGAAAGCCTT	0.318													10	24					6.40141e-05	6.92713e-05	1	0	T	41012488	G	T	41012488	3	4	375	1	0	0	0	0	1	0	0	0	18186	1116	39	3	507	3	ZNF684	1	41012488	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	4830615	41012488	208238133	4	72197											
MAST2	23139	broad.mit.edu	37	chr1	46496942	46496942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaggaagctgttggccGgagcagtggttccagtccag	8	8	17	8	1	0	1	0	1	0	0	2	4	2	4	3	5	2	4	3	5	1	2	rs56114653		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:46496942G>A	ENST00000361297.2	+	23	3255	c.2972G>A	c.(2971-2973)cGg>cAg	p.R991Q	MAST2_ENST00000372009.2_Missense_Mutation_p.R921Q|MAST2_ENST00000372008.1_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	991			R -> L (in dbSNP:rs56114653).		regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCTGTTGGCCGGAGCAGTGGT	0.622													3	40					0	0	0	0	A	46496942	G	A	46496942	3	1	375	1	0	0	0	0	1	0	0	0	9394	1116	39	1	3062	1	MAST2	1	46496942	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	5484454	46496942	202753679	5	72198											
DAB1	1600	broad.mit.edu	37	chr1	57480884	57480884	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggcagctggcaaaggcatAacagtttgtgtgggcatgaa	12	9	14	6	0	0	1	0	1	0	0	0	1	0	1	0	4	2	6	0	4	3	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:57480884A>G	ENST00000371236.2	-	12	1379	c.1116T>C	c.(1114-1116)gtT>gtC	p.V372V	DAB1_ENST00000420954.2_Silent_p.V370V|DAB1_ENST00000371234.4_Silent_p.V372V|DAB1_ENST00000371231.1_Silent_p.V405V|DAB1_ENST00000414851.2_Silent_p.V354V|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Silent_p.V286V			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	405					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCAAAGGCATAACAGTTTGTG	0.632													31	85					0	0	0	0	G	57480884	A	G	57480884	2	3	375	1	0	0	0	0	0	0	0	1	4250	349	13	5		5	DAB1	1	57480884	Silent	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	10983942	57480884	191769737	6	72199											
DNASE2B	58511	broad.mit.edu	37	chr1	84876670	84876670	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taactttcaagtacaaccagTatgaggcaataggtaaaact	17	10	7	7	0	1	1	1	1	0	0	1	1	1	1	1	2	4	4	1	2	9	6			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:84876670T>C	ENST00000370665.3	+	4	568	c.535T>C	c.(535-537)Tat>Cat	p.Y179H	DNASE2B_ENST00000370662.3_5'UTR	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	179					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GTACAACCAGTATGAGGCAAT	0.368													6	13					0	0	0	0	C	84876670	T	C	84876670	3	2	375	1	0	0	0	0	1	0	0	0	4701	1638	57	5	549	5	DNASE2B	1	84876670	Missense_Mutation	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	27395786	84876670	164373951	7	72200											
HFM1	164045	broad.mit.edu	37	chr1	91818136	91818136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaaacagtcctccagcaTaatgcattgtagattttata	13	14	5	9	0	1	1	1	0	0	1	3	1	3	1	2	0	3	3	2	0	5	7			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:91818136T>C	ENST00000370425.3	-	16	2002	c.1904A>G	c.(1903-1905)tAt>tGt	p.Y635C	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.Y314C|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	635	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCCTCCAGCATAATGCATTGT	0.358													7	35					0	0	0	0	C	91818136	T	C	91818136	3	2	375	1	0	0	0	0	1	0	0	0	7133	1406	49	5	2499	5	HFM1	1	91818136	Missense_Mutation	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	6941466	91818136	157432485	8	72201											
HFM1	164045	broad.mit.edu	37	chr1	91841183	91841183	+	Frame_Shift_Del	DEL	G	G	-																															tcagtttggttactactgcaGggaaatccaaggaccacttt																										TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:91841183delG	ENST00000370425.3	-	12	1595	c.1497delC	c.(1495-1497)ccfs	p.P499fs	HFM1_ENST00000370424.3_Frame_Shift_Del_p.P178fs|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	499							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TACTACTGCAGGGAAATCCAA	0.413													15	79	---	---	---	---					-	91841183	G	-	91841183	7	5	375	1	0	1	0	1	0	0	0	0	7133	987	35	0	2922	0	HFM1	1	91841183	Frame_Shift_Del	DEL	G	TCGA-D6-A6EK-01A-11D-A31L-08	23047	91841183	157409438	9	72202											
DPYD	1806	broad.mit.edu	37	chr1	98206024	98206024	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacacggggcatctgcaCatttcaggcatctaggaaat	11	10	10	10	1	4	1	1	1	3	0	4	2	4	2	0	4	1	3	0	4	2	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:98206024C>A	ENST00000370192.3	-	4	345	c.245G>T	c.(244-246)tGt>tTt	p.C82F	DPYD_ENST00000423006.2_Missense_Mutation_p.C45F|DPYD_ENST00000306031.5_Missense_Mutation_p.C82F	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	82	4Fe-4S ferredoxin-type 1.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GGCATCTGCACATTTCAGGCA	0.343													13	55					9.31168e-06	1.03258e-05	1	0	A	98206024	C	A	98206024	3	1	375	1	0	0	0	0	1	0	0	0	4781	478	17	4	2955	4	DPYD	1	98206024	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	6364841	98206024	151044597	10	72203											
ALX3	257	broad.mit.edu	37	chr1	110607340	110607340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaggtcgtgcggttacGacgcttcttgctcttgttct	4	15	12	10	4	3	1	0	1	3	0	4	2	3	1	0	2	3	5	0	2	2	5			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:110607340G>T	ENST00000369792.4	-	2	550	c.463C>A	c.(463-465)Cgt>Agt	p.R155S		NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	155						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGCGGTTACGACGCTTCTTG	0.597													19	67					1.56452e-12	1.87408e-12	1	0	T	110607340	G	T	110607340	3	4	375	1	0	0	0	0	1	0	0	0	557	1058	37	3	580	3	ALX3	1	110607340	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	12401316	110607340	138643281	11	72204											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112999853	112999853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgagagaggaaaccctcCacccatcccacccaagaaac	15	3	7	16	0	0	3	0	1	0	2	2	5	2	4	5	1	3	1	5	1	3	0			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:112999853C>T	ENST00000271277.6	+	6	1964	c.1739C>T	c.(1738-1740)cCa>cTa	p.P580L	RP4-671G15.3_ENST00000508462.1_RNA|CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	580						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAAACCCTCCACCCATCCCA	0.562													19	61					0	0	0	0	T	112999853	C	T	112999853	3	4	375	1	0	0	0	0	1	0	0	0	4078	594	21	4	1753	4	CTTNBP2NL	1	112999853	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	2392513	112999853	136250768	12	72205											
SLC22A15	55356	broad.mit.edu	37	chr1	116605438	116605438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtccttgctggggaagctGaccatcagtgctgcctttaa	7	13	11	10	0	1	1	1	1	0	0	2	2	2	2	3	2	4	3	3	2	2	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:116605438G>A	ENST00000369503.4	+	9	1357	c.1227G>A	c.(1225-1227)ctG>ctA	p.L409L		NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	409					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGGGGAAGCTGACCATCAGTG	0.483													57	180					0	0	0	0	A	116605438	G	A	116605438	2	1	375	1	0	0	0	0	0	0	0	1	14534	1277	45	2		2	SLC22A15	1	116605438	Silent	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	3605585	116605438	132645183	13	72206											
WDR3	10885	broad.mit.edu	37	chr1	118476009	118476009	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggcgttatcggcagccaaAaaggtaatattgtctttgtg	10	14	11	6	2	1	0	0	0	1	0	2	0	1	0	1	3	1	3	1	3	5	6			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:118476009A>G	ENST00000349139.4	+	2	114	c.67A>G	c.(67-69)Aaa>Gaa	p.K23E	WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_Missense_Mutation_p.K23E	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	23						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CGGCAGCCAAAAAGGTAATAT	0.468													20	61					0	0	0	0	G	118476009	A	G	118476009	3	3	375	1	0	0	0	0	1	0	0	0	17381	15	1	5	69	5	WDR3	1	118476009	Missense_Mutation	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	1870571	118476009	130774612	14	72207											
ECM1	1893	broad.mit.edu	37	chr1	150482213	150482213	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgactcctctcagcatggCcctccctttgagggacagag	7	9	10	15	0	1	3	1	2	1	1	4	4	3	4	4	2	1	1	4	2	0	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:150482213C>T	ENST00000369047.4	+	3	323	c.198C>T	c.(196-198)ggC>ggT	p.G66G	ECM1_ENST00000369049.4_Silent_p.G66G|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Silent_p.G66G	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	66					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCAGCATGGCCCTCCCTTTG	0.572													27	117					0	0	0	0	T	150482213	C	T	150482213	2	4	375	1	0	0	0	0	0	0	0	1	4933	726	26	4		4	ECM1	1	150482213	Silent	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	32006204	150482213	98768408	15	72208											
F5	2153	broad.mit.edu	37	chr1	169509963	169509963	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaaggtctggaggaggTgatatctggctgagatccgg	9	10	16	6	1	3	3	1	3	2	1	4	6	4	5	1	6	0	1	1	6	2	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:169509963T>C	ENST00000367796.3	-	13	4581	c.4380A>G	c.(4378-4380)tcA>tcG	p.S1460S	F5_ENST00000367797.3_Silent_p.S1455S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1455	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGGAGGAGGTGATATCTGGC	0.473													18	41					0	0	0	0	C	169509963	T	C	169509963	2	2	375	1	0	0	0	0	0	0	0	1	5386	1683	59	5		5	F5	1	169509963	Silent	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	19027750	169509963	79740658	16	72209											
FAM20B	9917	broad.mit.edu	37	chr1	179041168	179041168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgatcctcatctggaCgccgtggaccagcggctcct	5	10	10	16	3	3	1	1	1	2	0	6	3	5	3	4	3	1	1	4	3	0	0			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:179041168C>T	ENST00000263733.4	+	8	1455	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	373						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CTCATCTGGACGCCGTGGACC	0.552													14	71					0	0	0	0	T	179041168	C	T	179041168	2	4	375	1	0	0	0	0	0	0	0	1	5581	535	19	1		1	FAM20B	1	179041168	Silent	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	9531205	179041168	70209453	17	72210											
DNMT3A	1788	broad.mit.edu	37	chr2	25457192	25457192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcggagcgaagaggtggcGgatgactggcacgctccatg	9	5	17	10	4	0	2	0	1	0	1	1	5	1	4	1	5	2	2	1	5	1	0			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:25457192G>A	ENST00000264709.3	-	23	3032	c.2695C>T	c.(2695-2697)Cgc>Tgc	p.R899C	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R676C|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R899C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R710C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	899					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGGTGGCGGATGACTGGC	0.527			"Mis, F, N, S"		AML								10	47					0	0	0	0	A	25457192	G	A	25457192	3	1	375	1	0	0	0	0	1	0	0	0	4712	1116	39	1	47	1	DNMT3A	2	25457192	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08		25457192	217742181	18	72211											
C2orf71	388939	broad.mit.edu	37	chr2	29296997	29296997	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtggagtttttaaccAgcaaagggatggaacctctt	12	10	12	7	0	1	0	0	0	1	0	1	3	1	3	2	4	4	3	2	4	3	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:29296997A>T	ENST00000331664.5	-	1	130	c.131T>A	c.(130-132)cTg>cAg	p.L44Q		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	44					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GTTTTTAACCAGCAAAGGGAT	0.522													11	40					0	0	0	0	T	29296997	A	T	29296997	3	4	375	1	0	0	0	0	1	0	0	0	2211	188	7	5	3743	5	C2orf71	2	29296997	Missense_Mutation	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	3839805	29296997	213902376	19	72212											
EML4	27436	broad.mit.edu	37	chr2	42531679	42531679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagtggtggccataggaaCgcactcaggcaggtagggtc	10	6	15	10	1	1	0	1	0	0	0	2	1	1	1	1	6	1	3	1	6	3	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:42531679C>A	ENST00000318522.5	+	17	2217	c.1955C>A	c.(1954-1956)aCg>aAg	p.T652K	EML4_ENST00000453191.2_5'UTR|EML4_ENST00000401738.3_Missense_Mutation_p.T663K|EML4_ENST00000402711.2_Missense_Mutation_p.T594K	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	652					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCCATAGGAACGCACTCAGGC	0.448			T	ALK	NSCLC								14	83					3.32936e-07	3.76655e-07	1	0	A	42531679	C	A	42531679	3	1	375	1	0	0	0	0	1	0	0	0	5137	536	19	3	2021	3	EML4	2	42531679	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	13234682	42531679	200667694	20	72213											
POLR1A	25885	broad.mit.edu	37	chr2	86258661	86258661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcttgctcttgggtctttCgagcaccttccctgtgggga	4	14	11	12	1	3	0	0	0	3	0	5	2	4	1	2	3	2	2	2	3	0	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:86258661C>T	ENST00000263857.6	-	30	4748	c.4370G>A	c.(4369-4371)cGa>cAa	p.R1457Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.R1457Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1457					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTGGGTCTTTCGAGCACCTTC	0.592													22	78					0	0	0	0	T	86258661	C	T	86258661	3	4	375	1	0	0	0	0	1	0	0	0	12281	884	31	1	812	1	POLR1A	2	86258661	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	43726982	86258661	156940712	21	72214											
THNSL2	55258	broad.mit.edu	37	chr2	88472718	88472718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccacgggtcaactttgagGgggccctcttctctggctat	5	11	11	14	1	3	1	1	1	2	0	4	1	3	1	3	4	1	1	3	4	2	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:88472718G>T	ENST00000324166.5	+	1	1740	c.49G>T	c.(49-51)Ggg>Tgg	p.G17W	THNSL2_ENST00000377254.3_Missense_Mutation_p.G17W|THNSL2_ENST00000343544.4_Missense_Mutation_p.G17W|THNSL2_ENST00000358591.2_Missense_Mutation_p.G17W|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000402102.1_Missense_Mutation_p.G17W	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	17					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CAACTTTGAGGGGGCCCTCTT	0.607													12	65					1.49906e-05	1.638e-05	1	0	T	88472718	G	T	88472718	3	4	375	1	0	0	0	0	1	0	0	0	15957	1232	43	4	51	4	THNSL2	2	88472718	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	2214057	88472718	154726655	22	72215											
THNSL2	55258	broad.mit.edu	37	chr2	88482302	88482302	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatccacaggactgtccAgcagggagacttctctctct	9	10	8	14	0	3	1	1	0	2	1	7	3	5	2	2	2	1	1	2	2	0	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:88482302A>G	ENST00000324166.5	+	5	2578	c.887A>G	c.(886-888)cAg>cGg	p.Q296R	THNSL2_ENST00000377254.3_Missense_Mutation_p.Q296R|THNSL2_ENST00000343544.4_Missense_Mutation_p.Q296R|THNSL2_ENST00000358591.2_Missense_Mutation_p.Q296R|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000402102.1_Missense_Mutation_p.Q296R	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	296					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGGACTGTCCAGCAGGGAGAC	0.537													4	74					0	0	0	0	G	88482302	A	G	88482302	3	3	375	1	0	0	0	0	1	0	0	0	15957	188	7	5	905	5	THNSL2	2	88482302	Missense_Mutation	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	9584	88482302	154717071	23	72216											
TRIM43	129868	broad.mit.edu	37	chr2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagaaatctatatgaggagGgaagaacagccttcctctgg	14	8	12	7	0	2	3	0	1	2	2	3	6	3	5	2	3	2	0	2	3	5	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular	zinc ion binding	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398													3	20					0	0	0	0	A	96260870	G	A	96260870	3	1	375	1	0	0	0	0	1	0	0	0	16613	1233	43	4	490	4	TRIM43	2	96260870	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	7778568	96260870	146938503	24	72217											
CHST10	9486	broad.mit.edu	37	chr2	101009787	101009787	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatacaggcgtcggatgtCtcgtttgctgatgcccagga	7	10	14	10	3	1	1	0	1	1	0	3	3	1	3	1	4	3	3	1	4	1	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:101009787C>G	ENST00000264249.3	-	7	1376	c.991G>C	c.(991-993)Gac>Cac	p.D331H	CHST10_ENST00000409701.1_Missense_Mutation_p.D331H|CHST10_ENST00000542617.1_Missense_Mutation_p.D379H	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	331					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CGTCGGATGTCTCGTTTGCTG	0.483													11	70					0	0	0	0	G	101009787	C	G	101009787	3	3	375	1	0	0	0	0	1	0	0	0	3427	913	32	2	83	2	CHST10	2	101009787	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	4748917	101009787	142189586	25	72218											
MERTK	10461	broad.mit.edu	37	chr2	112786351	112786351	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaatggggtctcctggtcCcattcgagcatgctgccctt	6	11	12	12	1	1	0	0	0	1	0	4	2	2	1	3	4	3	2	3	4	1	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:112786351C>T	ENST00000295408.4	+	19	3167	c.2910C>T	c.(2908-2910)tcC>tcT	p.S970S	MERTK_ENST00000421804.2_Silent_p.S970S|MERTK_ENST00000409780.1_Silent_p.S794S			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	970					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TCTCCTGGTCCCATTCGAGCA	0.527													19	26					0	0	0	0	T	112786351	C	T	112786351	2	4	375	1	0	0	0	0	0	0	0	1	9548	610	22	4		4	MERTK	2	112786351	Silent	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	11776564	112786351	130413022	26	72219											
NCKAP5	344148	broad.mit.edu	37	chr2	133539877	133539877	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggcaaaagaaggccCaggcttctgctttgcttcca	9	9	10	13	0	1	1	0	0	1	1	2	1	2	1	3	3	3	5	3	3	3	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:133539877C>A	ENST00000409261.1	-	14	4880	c.4507G>T	c.(4507-4509)Ggg>Tgg	p.G1503W	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1503W	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1503							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAAGAAGGCCCAGGCTTCTGC	0.458													23	37					3.5997e-14	4.45488e-14	1	0	A	133539877	C	A	133539877	3	1	375	1	0	0	0	0	1	0	0	0	10293	594	21	4	1250	4	NCKAP5	2	133539877	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	20753526	133539877	109659496	27	72220											
NEB	4703	broad.mit.edu	37	chr2	152490306	152490306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggccagcaccacccccagCatgtccactgggctgctgaa	8	7	10	16	0	0	1	0	1	0	0	1	1	1	1	5	2	3	4	5	2	1	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:152490306C>A	ENST00000427231.2	-	65	9478	c.9276G>T	c.(9274-9276)atG>atT	p.M3092I	NEB_ENST00000409198.1_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.M3092I|NEB_ENST00000172853.10_Intron|NEB_ENST00000397345.3_Missense_Mutation_p.M3092I|NEB_ENST00000603639.1_Missense_Mutation_p.M3092I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3092					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCACCCCCAGCATGTCCACTG	0.532													104	177					7.43007e-68	9.45646e-68	1	0	A	152490306	C	A	152490306	3	1	375	1	0	0	0	0	1	0	0	0	10372	710	25	4	16882	4	NEB	2	152490306	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	18950429	152490306	90709067	28	72221											
DPP4	1803	broad.mit.edu	37	chr2	162865771	162865771	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagccccaaattgcaattcGtttgttgtccacaaatccca	11	11	5	14	1	0	0	0	0	0	0	3	0	2	0	5	0	2	3	5	0	3	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:162865771G>A	ENST00000360534.3	-	21	2427	c.1867C>T	c.(1867-1869)Cga>Tga	p.R623*	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	623					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATTGCAATTCGTTTGTTGTCC	0.368													24	24					0	0	0	0	A	162865771	G	A	162865771	4	1	375	1	0	0	0	0	0	1	0	0	4765	1153	40	1	457	1	DPP4	2	162865771	Nonsense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	10375465	162865771	80333602	29	72222											
NFE2L2	4780	broad.mit.edu	37	chr2	178095647	178095647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcatgctgaaaacttcgaGatataaggtgctgagttgtt	12	13	11	5	1	0	3	0	2	0	1	1	4	0	3	0	1	4	5	0	1	5	6			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:178095647G>A	ENST00000397062.3	-	5	2238	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	NFE2L2_ENST00000446151.2_Missense_Mutation_p.L539F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L546F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L546F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	562					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAAACTTCGAGATATAAGGTG	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			37	59					0	0	0	0	A	178095647	G	A	178095647	3	1	375	1	0	0	0	0	1	0	0	0	10438	942	33	2	137	2	NFE2L2	2	178095647	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	15229876	178095647	65103726	30	72223											
TTN	7273	broad.mit.edu	37	chr2	179590206	179590206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaactgtagagttgcaaCattttccacaaatgtaatcc	14	12	6	9	0	0	1	0	0	0	1	2	1	2	1	2	0	4	5	2	0	5	5			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:179590206C>T	ENST00000589042.1	-	71	20949	c.20725G>A	c.(20725-20727)Gtt>Att	p.V6909I	TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V6592I|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V5665I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6592							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)			AGAGTTGCAACATTTTCCACA	0.418													11	27					0	0	0	0	T	179590206	C	T	179590206	3	4	375	1	0	0	0	0	1	0	0	0	16831	478	17	4	83972	4	TTN	2	179590206	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	1494559	179590206	63609167	31	72224											
DNAH7	56171	broad.mit.edu	37	chr2	196726634	196726634	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatttcttccaagaatcGtgaggcaactgcctggagtg	10	12	10	9	1	2	2	1	1	1	1	4	3	3	3	2	2	2	1	2	2	4	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:196726634G>T	ENST00000312428.6	-	42	7643	c.7543C>A	c.(7543-7545)Cga>Aga	p.R2515R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2515	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCAAGAATCGTGAGGCAACT	0.378													16	24					1.33834e-09	1.56139e-09	1	0	T	196726634	G	T	196726634	2	4	375	1	0	0	0	0	0	0	0	1	4642	1153	40	3		3	DNAH7	2	196726634	Silent	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	17136428	196726634	46472739	32	72225											
PLCL1	5334	broad.mit.edu	37	chr2	198949847	198949847	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccagaaaaattaaaaagaAtgatcattgtgaaaggaaag	22	7	8	4	0	1	4	1	2	0	2	1	5	1	5	1	1	0	0	1	1	8	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:198949847A>T	ENST00000428675.1	+	2	2004	c.1606A>T	c.(1606-1608)Atg>Ttg	p.M536L	PLCL1_ENST00000437704.2_Missense_Mutation_p.M438L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	536	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATTAAAAAGAATGATCATTGT	0.393													22	28					0	0	0	0	T	198949847	A	T	198949847	3	4	375	1	0	0	0	0	1	0	0	0	12111	101	4	5	1612	5	PLCL1	2	198949847	Missense_Mutation	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	2223213	198949847	44249526	33	72226											
CASP8	841	broad.mit.edu	37	chr2	202149973	202149973	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaataactgtgtttcctacCgaaaccctgcagagggaacc	12	9	9	11	1	0	2	0	1	0	1	1	4	1	3	4	1	5	2	4	1	5	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:202149973C>T	ENST00000358485.4	+	8	1610	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R329*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R430*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R398*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R413*|CASP8_ENST00000392259.2_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	413					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGTTTCCTACCGAAACCCTGC	0.488										HNSCC(4;0.00038)			26	27					0	0	0	0	T	202149973	C	T	202149973	4	4	375	1	0	0	0	0	0	1	0	0	2702	644	23	1	1544	1	CASP8	2	202149973	Nonsense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	3200126	202149973	41049400	34	72227											
NBEAL1	65065	broad.mit.edu	37	chr2	204078257	204078257	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcttgaatctcagcatcAacccattagccatgcgactg	11	10	7	13	1	2	1	2	1	1	0	3	2	2	1	2	0	5	2	2	0	4	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:204078257A>T	ENST00000449802.1	+	54	8197	c.7864A>T	c.(7864-7866)Aac>Tac	p.N2622Y		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2622							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCTCAGCATCAACCCATTAGC	0.328													30	37					0	0	0	0	T	204078257	A	T	204078257	3	4	375	1	0	0	0	0	1	0	0	0	10258	130	5	5	8074	5	NBEAL1	2	204078257	Missense_Mutation	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	1928284	204078257	39121116	35	72228											
SGPP2	130367	broad.mit.edu	37	chr2	223389711	223389711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgtggtgttttccaccttgGtgtgtctcagcaggctctac	4	14	11	12	1	2	0	1	0	2	0	4	0	3	0	3	3	2	3	3	3	1	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:223389711G>T	ENST00000321276.7	+	4	693	c.607G>T	c.(607-609)Gtg>Ttg	p.V203L		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	203					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TTCCACCTTGGTGTGTCTCAG	0.473													10	27					0.000673444	0.000708223	1	0	T	223389711	G	T	223389711	3	4	375	1	0	0	0	0	1	0	0	0	14307	1261	44	4	621	4	SGPP2	2	223389711	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	19311454	223389711	19809662	36	72229											
SPHKAP	80309	broad.mit.edu	37	chr2	228883495	228883495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgaatgcctgttgtcattgGggtcgattatcatatttttg	8	18	10	5	1	2	1	2	1	0	0	3	2	2	1	1	2	1	1	1	2	3	6			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:228883495G>A	ENST00000392056.3	-	7	2121	c.2075C>T	c.(2074-2076)cCc>cTc	p.P692L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P692L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	692						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTGTCATTGGGGTCGATTAT	0.393													68	114					0	0	0	0	A	228883495	G	A	228883495	3	1	375	1	0	0	0	0	1	0	0	0	15138	1232	43	4	3051	4	SPHKAP	2	228883495	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	5493784	228883495	14315878	37	72230											
ANKMY1	51281	broad.mit.edu	37	chr2	241439473	241439473	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtactccaggagccgcttcCgcgccaggaacgtctcgcgc	6	7	12	16	6	1	0	0	0	1	0	4	2	3	2	4	2	3	2	4	2	2	2	rs141314665	byFrequency	TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:241439473C>A	ENST00000391987.1	-	15	2807	c.2441G>T	c.(2440-2442)cGg>cTg	p.R814L	ANKMY1_ENST00000373318.2_Missense_Mutation_p.R593L|ANKMY1_ENST00000272972.3_Missense_Mutation_p.R814L|ANKMY1_ENST00000373320.4_Missense_Mutation_p.R584L|ANKMY1_ENST00000361678.4_Missense_Mutation_p.R590L|ANKMY1_ENST00000406958.1_Missense_Mutation_p.R575L|ANKMY1_ENST00000403283.1_Missense_Mutation_p.R716L|ANKMY1_ENST00000401804.1_Missense_Mutation_p.R903L			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	814							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GAGCCGCTTCCGCGCCAGGAA	0.652													7	17					1	1	1	0	A	241439473	C	A	241439473	3	1	375	1	0	0	0	0	1	0	0	0	634	652	23	3	400	3	ANKMY1	2	241439473	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	12555978	241439473	1759900	38	72231											
SETD5	55209	broad.mit.edu	37	chr3	9512475	9512475	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttggatgggggatattgTtcccctgcagaaggattttc	8	14	12	7	0	0	1	0	0	0	1	2	4	1	4	2	4	1	2	2	4	2	6			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:9512475T>A	ENST00000402466.1	+	20	3531	c.2763T>A	c.(2761-2763)tgT>tgA	p.C921*	SETD5_ENST00000406341.1_Nonsense_Mutation_p.C1019*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.C1019*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.C1038*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.C921*			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1019										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGGGATATTGTTCCCCTGCAG	0.498													5	20					0	0	0	0	A	9512475	T	A	9512475	4	1	375	1	0	0	0	0	0	1	0	0	14221	1731	60	5	3123	5	SETD5	3	9512475	Nonsense_Mutation	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08		9512475	188509955	39	72232											
ZNF385D	79750	broad.mit.edu	37	chr3	21478515	21478515	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagcaaccttgcatagcGaacagtaaagaagccgtttt	14	9	9	9	2	0	2	0	1	0	1	0	3	0	2	2	0	6	4	2	0	6	5			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:21478515G>T	ENST00000281523.2	-	5	1138	c.620C>A	c.(619-621)tCg>tAg	p.S207*	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	207						nucleus	nucleic acid binding|zinc ion binding	p.S207L(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTGCATAGCGAACAGTAAAG	0.478													19	81					3.62473e-10	4.27337e-10	1	0	T	21478515	G	T	21478515	4	4	375	1	0	0	0	0	0	1	0	0	17973	1059	37	3	583	3	ZNF385D	3	21478515	Nonsense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	11966040	21478515	176543915	40	72233											
PHF7	51533	broad.mit.edu	37	chr3	52457249	52457249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccttccttattagaaaaGccagagtcctctcgtggcag	11	10	9	11	1	1	2	0	0	1	2	4	3	3	2	4	1	2	1	4	1	5	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:52457249G>A	ENST00000327906.3	+	11	1722	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	PHF7_ENST00000478707.1_Silent_p.K354K|PHF7_ENST00000347025.2_Silent_p.K315K	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	354						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TATTAGAAAAGCCAGAGTCCT	0.498													13	50					0	0	0	0	A	52457249	G	A	52457249	2	1	375	1	0	0	0	0	0	0	0	1	11911	962	34	4		4	PHF7	3	52457249	Silent	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	30978734	52457249	145565181	41	72234											
TKT	7086	broad.mit.edu	37	chr3	53260883	53260883	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggtccagcacgcggaTgttgatcttttctgtgaggg	7	11	16	7	2	2	2	0	2	2	0	3	4	3	3	1	4	1	2	1	4	1	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:53260883T>C	ENST00000462138.1	-	13	1673	c.1585A>G	c.(1585-1587)Atc>Gtc	p.I529V	TKT_ENST00000423516.1_Missense_Mutation_p.I537V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.I529V|TKT_ENST00000296289.6_Missense_Mutation_p.I482V			P29401	TKT_HUMAN	transketolase	529					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	AGCACGCGGATGTTGATCTTT	0.622													11	32					0	0	0	0	C	53260883	T	C	53260883	3	2	375	1	0	0	0	0	1	0	0	0	16028	1464	51	5	294	5	TKT	3	53260883	Missense_Mutation	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	803634	53260883	144761547	42	72235											
ARF4	378	broad.mit.edu	37	chr3	57561386	57561386	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagcactgcatctctcaaTtcatctaccagaagctggaa	13	9	7	12	0	4	1	2	0	2	1	5	2	4	2	1	1	5	4	1	1	4	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:57561386T>C	ENST00000303436.6	-	5	612	c.345A>G	c.(343-345)gaA>gaG	p.E115E	ARF4_ENST00000496292.1_Silent_p.E88E|ARF4_ENST00000489843.1_Silent_p.E6E	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	115					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		CATCTCTCAATTCATCTACCA	0.378													21	53					0	0	0	0	C	57561386	T	C	57561386	2	2	375	1	0	0	0	0	0	0	0	1	848	1490	52	5		5	ARF4	3	57561386	Silent	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	4300503	57561386	140461044	43	72236											
ADAMTS9	56999	broad.mit.edu	37	chr3	64526828	64526828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaaactggaaaacccagCggccgtgtaatccttccgac	12	7	9	13	3	0	1	0	1	0	0	2	3	2	2	4	2	3	1	4	2	5	2	rs140548078		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:64526828C>A	ENST00000498707.1	-	36	5806	c.5464G>T	c.(5464-5466)Gct>Tct	p.A1822S	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1794S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1822	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GAAAACCCAGCGGCCGTGTAA	0.468													14	58					0.000151284	0.00016137	1	0	A	64526828	C	A	64526828	3	1	375	1	0	0	0	0	1	0	0	0	273	768	27	3	359	3	ADAMTS9	3	64526828	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	6965442	64526828	133495602	44	72237											
MAGI1	9223	broad.mit.edu	37	chr3	65438991	65438991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttaggcaccgagggtctaaCcaagatgttgttttcgtgtt	8	15	11	7	2	1	1	0	0	1	1	2	2	1	1	2	2	1	4	2	2	3	7			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:65438991C>A	ENST00000330909.8	-	6	983	c.984G>T	c.(982-984)tgG>tgT	p.W328C	MAGI1_ENST00000497477.2_Missense_Mutation_p.W328C|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.W328C|MAGI1_ENST00000483466.1_Missense_Mutation_p.W328C	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	328	WW 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GAGGGTCTAACCAAGATGTTG	0.423													12	59					6.40141e-05	6.92713e-05	1	0	A	65438991	C	A	65438991	3	1	375	1	0	0	0	0	1	0	0	0	9259	508	18	4	3710	4	MAGI1	3	65438991	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	912163	65438991	132583439	45	72238											
PROS1	5627	broad.mit.edu	37	chr3	93603706	93603706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgcttcatcaaattcCagcttcgtatacatccatct	9	15	3	14	1	3	0	2	0	1	0	7	0	6	0	3	0	3	3	3	0	3	6			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:93603706C>A	ENST00000394236.3	-	12	1674	c.1358G>T	c.(1357-1359)tGg>tTg	p.W453L	PROS1_ENST00000407433.1_Missense_Mutation_p.W322L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	453	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CATCAAATTCCAGCTTCGTAT	0.363													3	23					0.115264	0.11736	1	0	A	93603706	C	A	93603706	3	1	375	1	0	0	0	0	1	0	0	0	12638	595	21	4	688	4	PROS1	3	93603706	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	28164715	93603706	104418724	46	72239											
COL8A1	1295	broad.mit.edu	37	chr3	99513727	99513727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggatcccaggccagccaGgatttccaggtggcaaaggg	10	6	15	10	0	0	0	0	0	0	0	2	2	2	2	4	6	1	1	4	6	1	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:99513727G>A	ENST00000261037.3	+	5	1362	c.982G>A	c.(982-984)Gga>Aga	p.G328R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G328R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	328	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AGGCCAGCCAGGATTTCCAGG	0.622													9	46					0	0	0	0	A	99513727	G	A	99513727	3	1	375	1	0	0	0	0	1	0	0	0	3735	1001	35	4	988	4	COL8A1	3	99513727	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	5910021	99513727	98508703	47	72240											
DPPA2	151871	broad.mit.edu	37	chr3	109023515	109023515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaccacacaccacctgaCgcctggaaaggaaaaacaaa	18	3	8	12	1	0	1	0	1	0	0	0	4	0	4	4	3	1	0	4	3	4	0			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:109023515C>T	ENST00000478945.1	-	7	907	c.661G>A	c.(661-663)Gtc>Atc	p.V221I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	221						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACCACCTGACGCCTGGAAAG	0.498													14	50					0	0	0	0	T	109023515	C	T	109023515	3	4	375	1	0	0	0	0	1	0	0	0	4770	536	19	1	243	1	DPPA2	3	109023515	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	9509788	109023515	88998915	48	72241											
ZBTB20	26137	broad.mit.edu	37	chr3	114069659	114069659	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtttctagctggtttgtCtgcggaccaccctcagcggg	4	12	12	13	2	3	0	1	0	2	0	3	1	3	1	3	3	3	3	3	3	1	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:114069659C>A	ENST00000462705.1	-	11	1868	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H	ZBTB20_ENST00000481632.1_Missense_Mutation_p.Q349H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.Q349H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.Q349H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.Q349H|ZBTB20_ENST00000474710.1_Missense_Mutation_p.Q422H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.Q349H	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCTGGTTTGTCTGCGGACCAC	0.617													18	73					6.94344e-10	8.1431e-10	1	0	A	114069659	C	A	114069659	3	1	375	1	0	0	0	0	1	0	0	0	17624	912	32	2	967	2	ZBTB20	3	114069659	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	5046144	114069659	83952771	49	72242											
DNAJB8	165721	broad.mit.edu	37	chr3	128181979	128181979	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgcctcctccttattgTcagggttcttgtcggggtgc	2	15	11	13	2	3	0	1	0	2	0	7	0	5	0	4	3	1	1	4	3	1	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:128181979T>A	ENST00000469083.1	-	2	2667	c.110A>T	c.(109-111)gAc>gTc	p.D37V	DNAJB8_ENST00000319153.3_Missense_Mutation_p.D37V			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	37	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CTCCTTATTGTCAGGGTTCTT	0.572													35	135					0	0	0	0	A	128181979	T	A	128181979	3	1	375	1	0	0	0	0	1	0	0	0	4662	1667	58	5	592	5	DNAJB8	3	128181979	Missense_Mutation	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	14112320	128181979	69840451	50	72243											
SI	6476	broad.mit.edu	37	chr3	164714334	164714334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attacatactctagtatttgCaatgttgtgattccttgagt	10	18	7	6	0	1	2	0	2	1	0	2	2	2	2	1	0	3	3	1	0	5	8			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:164714334C>T	ENST00000264382.3	-	40	4743	c.4681G>A	c.(4681-4683)Gca>Aca	p.A1561T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1561	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTAGTATTTGCAATGTTGTGA	0.363										HNSCC(35;0.089)			9	25					0	0	0	0	T	164714334	C	T	164714334	3	4	375	1	0	0	0	0	1	0	0	0	14385	710	25	4	838	4	SI	3	164714334	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	36532355	164714334	33308096	51	72244											
TTC14	151613	broad.mit.edu	37	chr3	180320144	180320144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggacaatccacacttccGtagcctcctggggtcggccg	7	7	12	15	3	0	0	0	0	0	0	4	1	3	1	5	4	1	2	5	4	2	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:180320144G>T	ENST00000412756.2	+	1	164	c.95G>T	c.(94-96)cGt>cTt	p.R32L	TTC14_ENST00000296015.4_Missense_Mutation_p.R32L|TTC14_ENST00000382584.4_Missense_Mutation_p.R32L	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	32							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CCACACTTCCGTAGCCTCCTG	0.647													3	24					0.115264	0.11736	1	0	T	180320144	G	T	180320144	3	4	375	1	0	0	0	0	1	0	0	0	16777	1145	40	3	97	3	TTC14	3	180320144	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	15605810	180320144	17702286	52	72245											
ABCC5	10057	broad.mit.edu	37	chr3	183646567	183646567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgtgtcctctccagggcatCccaaatctggtcttcagtgt	6	13	10	12	0	4	0	1	0	3	0	7	0	6	0	3	2	0	1	3	2	1	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:183646567C>T	ENST00000334444.6	-	27	4141	c.3901G>A	c.(3901-3903)Gat>Aat	p.D1301N	ABCC5_ENST00000265586.6_Missense_Mutation_p.D1258N	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1301	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCAGGGCATCCCAAATCTGG	0.517													15	61					0	0	0	0	T	183646567	C	T	183646567	3	4	375	1	0	0	0	0	1	0	0	0	56	855	30	2	428	2	ABCC5	3	183646567	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	3326423	183646567	14375863	53	72246											
CCDC96	257236	broad.mit.edu	37	chr4	7043919	7043919	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgaagatcttgtgctgCaggtataggttgtagcgctg	7	12	14	8	2	1	1	0	0	1	1	2	2	1	1	1	2	3	6	1	2	4	5			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:7043919C>T	ENST00000310085.4	-	1	809	c.747G>A	c.(745-747)ctG>ctA	p.L249L	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	249										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TCTTGTGCTGCAGGTATAGGT	0.652													32	107					0	0	0	0	T	7043919	C	T	7043919	2	4	375	1	0	0	0	0	0	0	0	1	2901	697	25	4		4	CCDC96	4	7043919	Silent	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08		7043919	184110357	54	72247											
ZNF518B	85460	broad.mit.edu	37	chr4	10445837	10445837	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttgatttcttgaatacCttcagaggtagcttttgaag	10	15	9	7	1	2	4	1	3	1	1	2	4	2	4	1	1	2	3	1	1	4	8			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:10445837C>G	ENST00000326756.3	-	3	2554	c.2116G>C	c.(2116-2118)Ggt>Cgt	p.G706R		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TCTTGAATACCTTCAGAGGTA	0.463													16	59					0	0	0	0	G	10445837	C	G	10445837	3	3	375	1	0	0	0	0	1	0	0	0	18058	681	24	4	1112	4	ZNF518B	4	10445837	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	3401918	10445837	180708439	55	72248											
CLNK	116449	broad.mit.edu	37	chr4	10533898	10533898	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcacttaagtcccttaaGcttatctgactgcaagaaaa	14	11	5	11	0	2	2	1	1	1	1	3	2	3	2	2	0	2	2	2	0	6	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:10533898G>A	ENST00000226951.6	-	12	851	c.612C>T	c.(610-612)agC>agT	p.S204S	CLNK_ENST00000507719.1_Silent_p.S162S|CLNK_ENST00000442825.2_Silent_p.S162S	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	204					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AGTCCCTTAAGCTTATCTGAC	0.343													5	10					0	0	0	0	A	10533898	G	A	10533898	2	1	375	1	0	0	0	0	0	0	0	1	3577	962	34	4		4	CLNK	4	10533898	Silent	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	88061	10533898	180620378	56	72249											
GRXCR1	389207	broad.mit.edu	37	chr4	42895620	42895620	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggcgtcaaatacaaaGtgagtgctggccaggctcta	12	8	12	9	1	3	2	2	1	1	1	3	2	3	2	1	3	2	2	1	3	4	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:42895620G>C	ENST00000399770.2	+	1	337	c.337G>C	c.(337-339)Gtg>Ctg	p.V113L		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	113					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CAAATACAAAGTGAGTGCTGG	0.433													25	82					0	0	0	0	C	42895620	G	C	42895620	3	2	375	1	0	0	0	0	1	0	0	0	6862	1029	36	4	339	4	GRXCR1	4	42895620	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	32361722	42895620	148258656	57	72250											
EPHA5	2044	broad.mit.edu	37	chr4	66467959	66467959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgattctgttccatcaCtttgcatacttggtatgtgt	7	19	7	8	0	3	1	1	1	2	0	4	1	4	1	1	1	2	3	1	1	2	7			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:66467959C>A	ENST00000273854.3	-	3	910	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	EPHA5_ENST00000511294.1_Missense_Mutation_p.V104L|EPHA5_ENST00000354839.4_Missense_Mutation_p.V104L|EPHA5_ENST00000432638.2_Missense_Mutation_p.V104L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	104					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGTTCCATCACTTTGCATACT	0.378										TSP Lung(17;0.13)			26	71					8.16721e-17	1.02778e-16	1	0	A	66467959	C	A	66467959	3	1	375	1	0	0	0	0	1	0	0	0	5208	565	20	4	2867	4	EPHA5	4	66467959	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	23572339	66467959	124686317	58	72251											
ANKRD17	26057	broad.mit.edu	37	chr4	73986653	73986653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagactaaccacttcaGttcttccttggaagcaggct	11	10	9	11	0	2	2	1	0	1	2	3	3	3	3	2	2	2	4	2	2	3	5			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:73986653G>A	ENST00000358602.4	-	20	3910	c.3794C>T	c.(3793-3795)aCt>aTt	p.T1265I	ANKRD17_ENST00000330838.6_Missense_Mutation_p.T1014I|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1152I	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1265					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACCACTTCAGTTCTTCCTTG	0.398													18	73					0	0	0	0	A	73986653	G	A	73986653	3	1	375	1	0	0	0	0	1	0	0	0	646	1029	36	4	4077	4	ANKRD17	4	73986653	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	7518694	73986653	117167623	59	72252											
PPEF2	5470	broad.mit.edu	37	chr4	76805746	76805746	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagcatgttttgacttgtaCcgtaagttcaccatatggtc	10	14	8	9	1	1	1	1	1	0	0	2	1	1	1	2	1	2	5	2	1	4	7			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:76805746C>T	ENST00000286719.7	-	8	1103		c.e8+1			NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2						detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGACTTGTACCGTAAGTTCA	0.353													29	112					0	0	0	0	T	76805746	C	T	76805746	5	4	375	1	0	0	0	0	0	0	1	0	12379	521	18	4	1554	4	PPEF2	4	76805746	Splice_Site	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	2819093	76805746	114348530	60	72253											
FAT4	79633	broad.mit.edu	37	chr4	126239890	126239890	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcaatttacaatctcccaAccaggcaatagtaaccatca	15	9	5	12	0	2	0	1	0	1	0	3	0	2	0	3	2	3	3	3	2	7	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:126239890A>T	ENST00000394329.3	+	1	2337	c.2324A>T	c.(2323-2325)aAc>aTc	p.N775I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	775	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAATCTCCCAACCAGGCAATA	0.438													14	54					0	0	0	0	T	126239890	A	T	126239890	3	4	375	1	0	0	0	0	1	0	0	0	5737	43	2	5	2326	5	FAT4	4	126239890	Missense_Mutation	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	49434144	126239890	64914386	61	72254											
FAT1	2195	broad.mit.edu	37	chr4	187554873	187554873	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggttccatctgtagcctCgactgtgaggttgtagtttg	5	15	14	7	1	1	1	0	1	1	0	3	2	2	1	2	3	1	5	2	3	2	5			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:187554873C>A	ENST00000441802.2	-	7	4497	c.4288G>T	c.(4288-4290)Gag>Tag	p.E1430*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1430	Cadherin 12.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTGTAGCCTCGACTGTGAGG	0.463										HNSCC(5;0.00058)			26	68					1.33986e-20	1.69565e-20	1	0	A	187554873	C	A	187554873	4	1	375	1	0	0	0	0	0	1	0	0	5734	893	31	3	9562	3	FAT1	4	187554873	Nonsense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	61314983	187554873	3599403	62	72255											
IRX2	153572	broad.mit.edu	37	chr5	2748564	2748564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttggcgcggtgtgcagggCctcgccgggggccgcggccg	1	6	20	14	7	0	0	0	0	0	0	1	0	0	0	4	6	1	1	4	6	0	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:2748564C>A	ENST00000382611.6	-	3	1506	c.1258G>T	c.(1258-1260)Gcc>Tcc	p.A420S	IRX2_ENST00000302057.5_Missense_Mutation_p.A420S	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	420						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GTGTGCAGGGCCTCGCCGGGG	0.721													9	15					3.09899e-07	3.52372e-07	1	0	A	2748564	C	A	2748564	3	1	375	1	0	0	0	0	1	0	0	0	7897	739	26	4	165	4	IRX2	5	2748564	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08		2748564	178166696	63	72256											
NSUN2	54888	broad.mit.edu	37	chr5	6620375	6620375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggacgagcaggtagcagCgcttgttgtccacatcattc	9	10	12	10	2	1	0	1	0	0	0	3	3	2	1	1	2	3	5	1	2	1	4	rs146332265		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:6620375C>A	ENST00000264670.6	-	7	970	c.659G>T	c.(658-660)cGc>cTc	p.R220L	NSUN2_ENST00000506139.1_Missense_Mutation_p.R185L|NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	220						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CAGGTAGCAGCGCTTGTTGTC	0.502													27	80					3.65163e-15	4.56964e-15	1	0	A	6620375	C	A	6620375	3	1	375	1	0	0	0	0	1	0	0	0	10749	768	27	3	1696	3	NSUN2	5	6620375	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	3871811	6620375	174294885	64	72257											
HCN1	348980	broad.mit.edu	37	chr5	45262714	45262714	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccggtggagattgtgtcCtcatgcgggaggtcggggtc	6	9	17	9	3	1	1	1	0	0	1	4	3	2	2	2	6	1	0	2	6	0	1	rs143224211		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:45262714C>G	ENST00000303230.4	-	8	2039	c.1982G>C	c.(1981-1983)aGg>aCg	p.R661T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	661						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGATTGTGTCCTCATGCGGGA	0.572													13	43					0	0	0	0	G	45262714	C	G	45262714	3	3	375	1	0	0	0	0	1	0	0	0	7046	681	24	4	694	4	HCN1	5	45262714	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	38642339	45262714	135652546	65	72258											
HTR1A	3350	broad.mit.edu	37	chr5	63256403	63256403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccaattgattatggcgcCcaacagggtgggcatgtggc	9	8	14	10	1	0	1	0	1	0	0	0	1	0	1	2	4	2	1	2	4	3	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:63256403C>T	ENST00000323865.3	-	1	1377	c.1144G>A	c.(1144-1146)Ggc>Agc	p.G382S	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	382					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ATTATGGCGCCCAACAGGGTG	0.512													49	184					0	0	0	0	T	63256403	C	T	63256403	3	4	375	1	0	0	0	0	1	0	0	0	7489	623	22	4	127	4	HTR1A	5	63256403	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	17993689	63256403	117658857	66	72259											
DMGDH	29958	broad.mit.edu	37	chr5	78329100	78329100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattctcttgctttggccTcagtgtactgggttgttgtc	4	18	11	8	0	2	1	1	1	1	0	4	1	2	1	1	2	2	4	1	2	1	6			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:78329100T>C	ENST00000255189.3	-	8	1353	c.1325A>G	c.(1324-1326)gAg>gGg	p.E442G	DMGDH_ENST00000380311.4_Missense_Mutation_p.E241G|DMGDH_ENST00000540686.1_Missense_Mutation_p.E62G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	442					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TGCTTTGGCCTCAGTGTACTG	0.398													15	41					0	0	0	0	C	78329100	T	C	78329100	3	2	375	1	0	0	0	0	1	0	0	0	4618	1551	54	5	1311	5	DMGDH	5	78329100	Missense_Mutation	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	15072697	78329100	102586160	67	72260											
MSH3	4437	broad.mit.edu	37	chr5	79952339	79952339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaagtgatctgggaatgtCtggcaactctggtgagttgt	9	12	15	5	0	3	2	0	2	3	0	3	4	3	4	0	4	1	2	0	4	3	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:79952339C>T	ENST00000265081.6	+	2	427	c.347C>T	c.(346-348)tCt>tTt	p.S116F		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	116	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CTGGGAATGTCTGGCAACTCT	0.428								Mismatch excision repair (MMR)					11	46					0	0	0	0	T	79952339	C	T	79952339	3	4	375	1	0	0	0	0	1	0	0	0	9941	913	32	2	353	2	MSH3	5	79952339	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	1623239	79952339	100962921	68	72261											
SPATA9	83890	broad.mit.edu	37	chr5	94994441	94994441	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaatgtctggcttctcCggcaatgacctataaggttt	9	14	9	9	1	3	2	0	2	3	0	4	2	3	2	2	3	0	3	2	3	4	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:94994441C>T	ENST00000274432.8	-	5	792	c.651G>A	c.(649-651)ccG>ccA	p.P217P	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	217					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CTGGCTTCTCCGGCAATGACC	0.403													7	27					0	0	0	0	T	94994441	C	T	94994441	2	4	375	1	0	0	0	0	0	0	0	1	15106	639	23	1		1	SPATA9	5	94994441	Silent	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	15042102	94994441	85920819	69	72262											
PAM	5066	broad.mit.edu	37	chr5	102342554	102342554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggccctgtattaatcctggGaaggagcatgcaaccaggca	12	7	12	10	0	0	0	0	0	0	0	1	2	1	2	3	4	3	4	3	4	4	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:102342554G>T	ENST00000438793.3	+	18	2323	c.1853G>T	c.(1852-1854)gGa>gTa	p.G618V	PAM_ENST00000304400.7_Missense_Mutation_p.G618V|PAM_ENST00000455264.2_Missense_Mutation_p.G618V|PAM_ENST00000346918.2_Missense_Mutation_p.G618V|PAM_ENST00000348126.2_Missense_Mutation_p.G511V|PAM_ENST00000274392.9_Missense_Mutation_p.G521V|PAM_ENST00000379787.4_5'UTR	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	618	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TTAATCCTGGGAAGGAGCATG	0.433													25	81					1.17739e-12	1.41794e-12	1	0	T	102342554	G	T	102342554	3	4	375	1	0	0	0	0	1	0	0	0	11483	1174	41	2	1923	2	PAM	5	102342554	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	7348113	102342554	78572706	70	72263											
ADAMTS19	171019	broad.mit.edu	37	chr5	129030413	129030413	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtttatttgttcttttcagGagaaaggaagacaacagtgt	12	15	10	4	0	2	2	1	0	1	2	2	4	2	3	0	2	1	2	0	2	4	6			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:129030413G>A	ENST00000274487.4	+	19	2946	c.2800_splice	c.e19-1	p.G934_splice	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	934	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTCTTTTCAGGAGAAAGGAAG	0.313													6	38					0	0	0	0	A	129030413	G	A	129030413	5	1	375	1	0	0	0	0	0	0	1	0	264	1188	41	2	2875	2	ADAMTS19	5	129030413	Splice_Site	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	26687859	129030413	51884847	71	72264											
PCDHB12	56124	broad.mit.edu	37	chr5	140590332	140590332	+	Frame_Shift_Del	DEL	G	G	-																															gcccgggctattcggcgtgtGggcgcacaatggcgaggtgc																										TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:140590332delG	ENST00000239450.2	+	1	2042	c.1853delG	c.(1852-1854)tgfs	p.W618fs	PCDHB12_ENST00000541609.1_Frame_Shift_Del_p.W281fs	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		618	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGGCGTGTGGGCGCACAAT	0.687													9	142	---	---	---	---					-	140590332	G	-	140590332	7	5	375	1	0	1	0	1	0	0	0	0	11608	1357	47	0	1855	0	PCDHB12	5	140590332	Frame_Shift_Del	DEL	G	TCGA-D6-A6EK-01A-11D-A31L-08	11559919	140590332	40324928	72	72265											
PCDHGA8	9708	broad.mit.edu	37	chr5	140772972	140772972	+	Frame_Shift_Del	DEL	C	C	-																															acccagagctggtgctggagCgcgccctggacagggaggaa																										TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:140772972delC	ENST00000398604.2	+	1	592	c.592delC	c.(592-594)gcfs	p.R198fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCTGGAGCGCGCCCTGGA	0.632													19	46	---	---	---	---					-	140772972	C	-	140772972	7	5	375	1	0	1	0	1	0	0	0	0	11631	768	27	0	594	0	PCDHGA8	5	140772972	Frame_Shift_Del	DEL	C	TCGA-D6-A6EK-01A-11D-A31L-08	182640	140772972	40142288	73	72266											
PCDHGA10	56106	broad.mit.edu	37	chr5	140793473	140793473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcaaatgacaacgcgcCggtcttcaccttgccagaat	11	8	9	13	4	2	2	1	1	1	1	2	3	2	2	3	1	3	1	3	1	3	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:140793473C>T	ENST00000398610.2	+	1	731	c.731C>T	c.(730-732)cCg>cTg	p.P244L	PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAACGCGCCGGTCTTCACC	0.582													12	40					0	0	0	0	T	140793473	C	T	140793473	3	4	375	1	0	0	0	0	1	0	0	0	11622	652	23	1	733	1	PCDHGA10	5	140793473	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	20501	140793473	40121787	74	72267											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798237	140798237	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgaaggccactgaccaggacGagggcatcaactcagagatc	13	5	12	11	1	2	3	2	2	0	1	3	6	2	4	2	3	1	1	2	3	2	0			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:140798237G>C	ENST00000398594.2	+	1	811	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018927.3	NP_061750.1												p.E271*(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCAGGACGAGGGCATCAA	0.527													12	26					0	0	0	0	C	140798237	G	C	140798237	3	2	375	1	0	0	0	0	1	0	0	0	11639	1059	37	3	813	3	PCDHGB7	5	140798237	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	4764	140798237	40117023	75	72268											
DIAPH1	1729	broad.mit.edu	37	chr5	140905924	140905924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaacagacaacttcttGgggtcaaagaggaagtactc	13	10	9	9	0	4	2	2	0	2	2	5	3	4	3	0	3	3	1	0	3	5	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:140905924G>A	ENST00000253811.6	-	25	3521	c.3381C>T	c.(3379-3381)ccC>ccT	p.P1127P	DIAPH1_ENST00000518047.1_Silent_p.P1114P|DIAPH1_ENST00000398562.2_Silent_p.P1102P|DIAPH1_ENST00000389054.3_Silent_p.P1123P|DIAPH1_ENST00000398566.3_Silent_p.P1118P|DIAPH1_ENST00000389057.5_Silent_p.P1117P|DIAPH1_ENST00000520569.1_Silent_p.P1069P|DIAPH1_ENST00000398557.4_Silent_p.P1126P			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1126	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACTTCTTGGGGTCAAAGA	0.428													16	43					0	0	0	0	A	140905924	G	A	140905924	2	1	375	1	0	0	0	0	0	0	0	1	4555	1335	47	4		4	DIAPH1	5	140905924	Silent	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	107687	140905924	40009336	76	72269											
FLT4	2324	broad.mit.edu	37	chr5	180040050	180040050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccggggccctcatccttgtgCcgtctctcagccgctggcag	3	9	12	17	3	3	0	2	0	1	0	5	0	4	0	5	3	2	2	5	3	0	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:180040050C>T	ENST00000261937.6	-	25	3470	c.3392G>A	c.(3391-3393)gGc>gAc	p.G1131D	FLT4_ENST00000502649.1_Missense_Mutation_p.G1131D|FLT4_ENST00000393347.3_Missense_Mutation_p.G1131D	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1131	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.G1131D(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CATCCTTGTGCCGTCTCTCAG	0.672													5	103					0	0	0	0	T	180040050	C	T	180040050	3	4	375	1	0	0	0	0	1	0	0	0	5989	739	26	4	731	4	FLT4	5	180040050	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	39134126	180040050	875210	77	72270											
FLT4	2324	broad.mit.edu	37	chr5	180055919	180055919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtacgctgccagcttcaCgggcagcttcaccagctcgt	6	8	13	14	3	2	0	2	0	0	0	3	0	2	0	2	3	5	6	2	3	1	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:180055919C>T	ENST00000261937.6	-	8	1144	c.1066G>A	c.(1066-1068)Gtg>Atg	p.V356M	FLT4_ENST00000502649.1_Missense_Mutation_p.V356M|FLT4_ENST00000393347.3_Missense_Mutation_p.V356M|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	356	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCCAGCTTCACGGGCAGCTTC	0.627													7	45					0	0	0	0	T	180055919	C	T	180055919	3	4	375	1	0	0	0	0	1	0	0	0	5989	536	19	1	3125	1	FLT4	5	180055919	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	15869	180055919	859341	78	72271											
JARID2	3720	broad.mit.edu	37	chr6	15501415	15501415	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgctggaaggccacacAgagaacgaccaccacaagtt	13	3	12	13	2	0	1	0	0	0	1	0	4	0	2	4	3	1	2	4	3	3	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:15501415A>T	ENST00000341776.2	+	8	2467	c.2223A>T	c.(2221-2223)acA>acT	p.T741T	JARID2_ENST00000541660.1_Silent_p.T703T|JARID2_ENST00000397311.3_Silent_p.T569T	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	741					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AAGGCCACACAGAGAACGACC	0.642													51	162					0	0	0	0	T	15501415	A	T	15501415	2	4	375	1	0	0	0	0	0	0	0	1	7998	175	7	5		5	JARID2	6	15501415	Silent	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08		15501415	155613652	79	72272											
HDGFL1	154150	broad.mit.edu	37	chr6	22569841	22569841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcccatgtacaagagcgggGacctggtgtttgccaagtta	9	10	13	9	1	0	1	0	0	0	1	0	2	0	2	3	3	4	3	3	3	4	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:22569841G>A	ENST00000510882.2	+	1	47	c.37G>A	c.(37-39)Gac>Aac	p.D13N	HDGFL1_ENST00000230012.3_Missense_Mutation_p.D13N			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	13	PWWP.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					CAAGAGCGGGGACCTGGTGTT	0.622													9	49					0	0	0	0	A	22569841	G	A	22569841	3	1	375	1	0	0	0	0	1	0	0	0	7069	1174	41	2	39	2	HDGFL1	6	22569841	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	7068426	22569841	148545226	80	72273											
SCAND3	114821	broad.mit.edu	37	chr6	28539706	28539706	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttaatgtgataagtgagcTtgcttcttgcttgttaattt	8	21	8	4	0	1	2	0	2	1	0	1	2	1	2	0	0	3	4	0	0	3	9			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:28539706T>A	ENST00000452236.2	-	4	4577	c.3960A>T	c.(3958-3960)caA>caT	p.Q1320H		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1320					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ataagtgagcttgcttcttgc	0.308													11	20					0	0	0	0	A	28539706	T	A	28539706	3	1	375	1	0	0	0	0	1	0	0	0	13962	1606	56	5	21	5	SCAND3	6	28539706	Missense_Mutation	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	5969865	28539706	142575361	81	72274											
OR2B3	442184	broad.mit.edu	37	chr6	29054372	29054372	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcttgagctatgaagccAtaggagatgaggatcaatgt	13	10	12	6	0	1	4	1	3	0	1	1	6	1	5	1	2	3	2	1	2	4	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:29054372A>G	ENST00000377173.2	-	1	718	c.654T>C	c.(652-654)taT>taC	p.Y218Y		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CTATGAAGCCATAGGAGATGA	0.428													12	60					0	0	0	0	G	29054372	A	G	29054372	2	3	375	1	0	0	0	0	0	0	0	1	11061	224	8	5		5	OR2B3	6	29054372	Silent	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	514666	29054372	142060695	82	72275											
HLA-A	3105	broad.mit.edu	37	chr6	29910587	29910587	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcccggcccggccgcgggGagccccgcttcatcgccgtg	2	6	15	18	7	1	0	1	0	0	0	3	1	2	1	6	4	1	1	6	4	0	1	rs41549014		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:29910587G>T	ENST00000396634.1	+	4	468	c.127G>T	c.(127-129)Gag>Tag	p.E43*	HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E43*			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	43	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.E43*(1)|p.R41fs*31(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGCCGCGGGGAGCCCCGCTT	0.706									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	39					0.184627	0.186291	1	0	T	29910587	G	T	29910587	4	4	375	1	0	0	0	0	0	1	0	0	7245	1175	41	2	133	2	HLA-A	6	29910587	Nonsense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	856215	29910587	141204480	83	72276											
LTA	4049	broad.mit.edu	37	chr6	31541268	31541268	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccatgaggtccagctcttctCctcccagtaccccttccatg	6	11	6	18	0	2	1	0	1	2	0	6	1	5	1	7	1	2	2	7	1	1	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:31541268C>G	ENST00000454783.1	+	4	674	c.416C>G	c.(415-417)tCc>tGc	p.S139C	LTA_ENST00000418386.2_Missense_Mutation_p.S139C	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	139					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CAGCTCTTCTCCTCCCAGTAC	0.597													26	130					0	0	0	0	G	31541268	C	G	31541268	3	3	375	1	0	0	0	0	1	0	0	0	9132	855	30	2	426	2	LTA	6	31541268	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	1630681	31541268	139573799	84	72277											
LRFN2	57497	broad.mit.edu	37	chr6	40400630	40400630	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtccaccagccccgtcaTgttggcaaagtcctggcggc	7	7	12	15	2	1	0	1	0	0	0	3	0	3	0	5	4	1	2	5	4	1	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:40400630T>C	ENST00000338305.6	-	2	765	c.223A>G	c.(223-225)Atg>Gtg	p.M75V		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	75						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCCCCGTCATGTTGGCAAAG	0.602													15	60					0	0	0	0	C	40400630	T	C	40400630	3	2	375	1	0	0	0	0	1	0	0	0	9002	1464	51	5	2154	5	LRFN2	6	40400630	Missense_Mutation	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	8859362	40400630	130714437	85	72278											
KLC4	89953	broad.mit.edu	37	chr6	43030739	43030739	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgcggcggctatgccagGagaaccagtggctgcgggat	8	6	18	9	3	0	1	0	0	0	1	0	3	0	2	2	6	4	2	2	6	2	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:43030739G>T	ENST00000394056.2	+	4	838	c.343G>T	c.(343-345)Gag>Tag	p.E115*	KLC4_ENST00000259708.3_Nonsense_Mutation_p.E133*|KLC4_ENST00000458460.2_Nonsense_Mutation_p.E115*|KLC4_ENST00000347162.5_Nonsense_Mutation_p.E115*|KLC4_ENST00000394058.1_Nonsense_Mutation_p.E115*|KLC4_ENST00000453940.2_Intron|KLC4_ENST00000479388.1_Nonsense_Mutation_p.E115*			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	115						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GCTATGCCAGGAGAACCAGTG	0.627													15	68					5.3912e-06	6.00811e-06	1	0	T	43030739	G	T	43030739	4	4	375	1	0	0	0	0	0	1	0	0	8388	1175	41	2	407	2	KLC4	6	43030739	Nonsense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	2630109	43030739	128084328	86	72279											
LAMA4	3910	broad.mit.edu	37	chr6	112528290	112528290	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccctgatggaatctccGatataaccatccagacactt	11	10	6	14	1	1	2	0	1	1	1	4	4	3	3	5	1	1	1	5	1	3	3	rs144933976		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:112528290G>T	ENST00000230538.7	-	4	751	c.354C>A	c.(352-354)atC>atA	p.I118I	LAMA4_ENST00000424408.2_Silent_p.I118I|LAMA4_ENST00000522006.1_Silent_p.I118I|LAMA4_ENST00000389463.4_Silent_p.I118I|LAMA4_ENST00000524032.1_5'UTR	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	118	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGGAATCTCCGATATAACCAT	0.502													16	50					3.41278e-10	4.04478e-10	1	0	T	112528290	G	T	112528290	2	4	375	1	0	0	0	0	0	0	0	1	8661	1048	37	3		3	LAMA4	6	112528290	Silent	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	69497551	112528290	58586777	87	72280											
KIAA0408	9729	broad.mit.edu	37	chr6	127768624	127768624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataggcttgttcagaatcCgagctgggaaaatttcgaga	12	11	11	7	2	2	2	2	0	0	2	4	5	3	3	1	2	1	3	1	2	4	4	rs138966810		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:127768624C>T	ENST00000483725.3	-	5	1176	c.840G>A	c.(838-840)tcG>tcA	p.S280S	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	280							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		GTTCAGAATCCGAGCTGGGAA	0.428													22	89					0	0	0	0	T	127768624	C	T	127768624	2	4	375	1	0	0	0	0	0	0	0	1	8225	639	23	1		1	KIAA0408	6	127768624	Silent	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	15240334	127768624	43346443	88	72281											
GRM1	2911	broad.mit.edu	37	chr6	146673616	146673616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtggtttgatgagaaaGgagacgctcctggaaggtaa	12	9	16	4	1	0	3	0	2	0	2	1	6	1	4	1	5	0	3	1	5	3	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:146673616G>A	ENST00000392299.2	+	5	1887	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R	GRM1_ENST00000507907.1_Missense_Mutation_p.G473R|GRM1_ENST00000492807.2_Missense_Mutation_p.G473R|GRM1_ENST00000361719.2_Missense_Mutation_p.G473R|GRM1_ENST00000282753.1_Missense_Mutation_p.G473R|GRM1_ENST00000355289.4_Missense_Mutation_p.G473R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	473					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGATGAGAAAGGAGACGCTCC	0.493													27	141					0	0	0	0	A	146673616	G	A	146673616	3	1	375	1	0	0	0	0	1	0	0	0	6846	1001	35	4	1431	4	GRM1	6	146673616	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	18904992	146673616	24441451	89	72282											
PARK2	5071	broad.mit.edu	37	chr6	161771199	161771199	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccacagttccagcaccactCgagcctgcactggggctgcg	7	6	12	16	2	0	0	0	0	0	0	2	1	1	0	4	2	4	4	4	2	0	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:161771199C>G	ENST00000366898.1	-	12	1432	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q	PARK2_ENST00000338468.3_Missense_Mutation_p.E253Q|PARK2_ENST00000366894.1_Missense_Mutation_p.E253Q|PARK2_ENST00000366896.1_Missense_Mutation_p.E295Q|PARK2_ENST00000366897.1_Missense_Mutation_p.E416Q	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	444					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAGCACCACTCGAGCCTGCAC	0.627													6	26					0	0	0	0	G	161771199	C	G	161771199	3	3	375	1	0	0	0	0	1	0	0	0	11520	893	31	3	71	3	PARK2	6	161771199	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	15097583	161771199	9343868	90	72283											
TNS3	64759	broad.mit.edu	37	chr7	47408655	47408655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccctgcggatcttcacCaacgttgctgccaaaaccgt	8	9	10	14	3	2	0	1	0	1	0	2	1	2	1	4	2	6	2	4	2	3	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:47408655C>T	ENST00000398879.1	-	17	1954	c.1588G>A	c.(1588-1590)Ggt>Agt	p.G530S	TNS3_ENST00000355730.3_Missense_Mutation_p.G290S|TNS3_ENST00000311160.9_Missense_Mutation_p.G530S			Q68CZ2	TENS3_HUMAN	tensin 3	530						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGATCTTCACCAACGTTGCTG	0.632													14	60					0	0	0	0	T	47408655	C	T	47408655	3	4	375	1	0	0	0	0	1	0	0	0	16438	594	21	4	2809	4	TNS3	7	47408655	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08		47408655	111730008	91	72284											
COBL	23242	broad.mit.edu	37	chr7	51093059	51093059	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggagctcctcagaagcaGaggatgccacctggcaatga	11	7	12	11	0	2	3	1	1	1	2	3	5	3	5	3	3	3	3	3	3	2	0			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:51093059G>C	ENST00000395542.2	-	14	3945	c.3761C>G	c.(3760-3762)tCt>tGt	p.S1254C	COBL_ENST00000265136.7_Missense_Mutation_p.S1172C			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1172	WH2 3.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTCAGAAGCAGAGGATGCCAC	0.527													8	51					0	0	0	0	C	51093059	G	C	51093059	3	2	375	1	0	0	0	0	1	0	0	0	3683	942	33	2	278	2	COBL	7	51093059	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	3684404	51093059	108045604	92	72285											
POM121L12	285877	broad.mit.edu	37	chr7	53104138	53104138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccttccgtgctggtccaGcccgccccatccgccatctg	3	9	10	19	3	1	0	0	0	1	0	4	0	4	0	8	2	2	1	8	2	0	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:53104138G>T	ENST00000408890.4	+	1	790	c.774G>T	c.(772-774)caG>caT	p.Q258H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	258										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCTGGTCCAGCCCGCCCCAT	0.652													29	77					5.60225e-13	6.82013e-13	1	0	T	53104138	G	T	53104138	3	4	375	1	0	0	0	0	1	0	0	0	12313	962	34	4	776	4	POM121L12	7	53104138	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	2011079	53104138	106034525	93	72286											
PCLO	27445	broad.mit.edu	37	chr7	82545411	82545411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatataatgtagtttgcCgtggcttctgttgtatcacc	9	15	8	9	1	2	0	1	0	1	0	2	0	2	0	3	1	1	5	3	1	5	7			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:82545411C>A	ENST00000423517.2	-	7	12228	c.11891G>T	c.(11890-11892)cGg>cTg	p.R3964L	PCLO_ENST00000437081.1_Missense_Mutation_p.R684L|PCLO_ENST00000333891.8_Missense_Mutation_p.R3964L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3895					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3964L(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTAGTTTGCCGTGGCTTCTG	0.433													134	270					6.4993e-71	8.3191e-71	1	0	A	82545411	C	A	82545411	3	1	375	1	0	0	0	0	1	0	0	0	11654	652	23	3	3630	3	PCLO	7	82545411	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	29441273	82545411	76593252	94	72287											
FZD1	8321	broad.mit.edu	37	chr7	90895775	90895775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcacgatggcaccaagaCcgagaagctggagaagctca	15	3	13	10	2	1	3	1	0	0	3	1	7	1	3	2	2	3	4	2	2	4	0			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:90895775C>T	ENST00000287934.2	+	1	1993	c.1580C>T	c.(1579-1581)aCc>aTc	p.T527I		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	527					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCACCAAGACCGAGAAGCTG	0.582													25	140					0	0	0	0	T	90895775	C	T	90895775	3	4	375	1	0	0	0	0	1	0	0	0	6176	507	18	4	1582	4	FZD1	7	90895775	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	8350364	90895775	68242888	95	72288											
PIK3CG	5294	broad.mit.edu	37	chr7	106508689	106508689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcgtcattcaccgcagcaCcaccagccagaccattaagg	12	6	7	16	2	2	1	2	0	0	1	3	1	2	1	5	1	2	2	5	1	1	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:106508689C>T	ENST00000359195.3	+	2	993	c.683C>T	c.(682-684)aCc>aTc	p.T228I	PIK3CG_ENST00000440650.2_Missense_Mutation_p.T228I|PIK3CG_ENST00000496166.1_Missense_Mutation_p.T228I	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	228					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CACCGCAGCACCACCAGCCAG	0.557													53	81					0	0	0	0	T	106508689	C	T	106508689	3	4	375	1	0	0	0	0	1	0	0	0	11988	507	18	4	685	4	PIK3CG	7	106508689	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	15612914	106508689	52629974	96	72289											
SLC13A1	6561	broad.mit.edu	37	chr7	122755657	122755657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtacaatccaagtacatatgCcaagcataaccacagcaaca	18	6	5	12	0	0	0	0	0	0	0	1	0	1	0	3	0	7	4	3	0	8	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:122755657C>T	ENST00000194130.2	-	15	1742	c.1703G>A	c.(1702-1704)gGc>gAc	p.G568D	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	568						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGTACATATGCCAAGCATAAC	0.433													32	43					0	0	0	0	T	122755657	C	T	122755657	3	4	375	1	0	0	0	0	1	0	0	0	14479	739	26	4	88	4	SLC13A1	7	122755657	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	16246968	122755657	36383006	97	72290											
PTPRN2	5799	broad.mit.edu	37	chr7	157959748	157959748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtactgtggctccaggCtgccctccccggggggagct	5	7	16	13	1	0	0	0	0	0	0	2	2	2	1	4	6	3	4	4	6	2	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:157959748C>T	ENST00000389413.3	-	6	888	c.785G>A	c.(784-786)aGc>aAc	p.S262N	PTPRN2_ENST00000389418.4_Missense_Mutation_p.S262N|PTPRN2_ENST00000389416.4_Missense_Mutation_p.S245N|PTPRN2_ENST00000409483.1_Missense_Mutation_p.S224N|PTPRN2_ENST00000404321.2_Missense_Mutation_p.S285N	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	262						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGGCTCCAGGCTGCCCTCCCC	0.652													5	14					0	0	0	0	T	157959748	C	T	157959748	3	4	375	1	0	0	0	0	1	0	0	0	12890	797	28	4	2334	4	PTPRN2	7	157959748	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	35204091	157959748	1178915	98	72291											
DOCK5	80005	broad.mit.edu	37	chr8	25249422	25249422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctccagctactacagaGccaatgaagtgcagcagttc	11	9	8	13	0	1	2	0	1	1	1	3	2	1	2	3	0	6	4	3	0	4	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr8:25249422G>A	ENST00000276440.7	+	43	4410	c.4366G>A	c.(4366-4368)Gcc>Acc	p.A1456T		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1456	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTACTACAGAGCCAATGAAGT	0.438													6	23					0	0	0	0	A	25249422	G	A	25249422	3	1	375	1	0	0	0	0	1	0	0	0	4726	971	34	4	4536	4	DOCK5	8	25249422	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08		25249422	121114600	99	72292											
UNC5D	137970	broad.mit.edu	37	chr8	35608173	35608173	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcgtgtcatgtgctccTggacagctttgggacctatg	5	14	12	10	1	1	0	1	0	0	0	2	2	2	2	2	2	3	2	2	2	1	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr8:35608173T>A	ENST00000287272.2	+	12	1822	c.1802T>A	c.(1801-1803)cTg>cAg	p.L601Q	UNC5D_ENST00000420357.1_Missense_Mutation_p.L603Q|UNC5D_ENST00000404895.2_Missense_Mutation_p.L670Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.L665Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.L246Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.L675Q			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	670	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATGTGCTCCTGGACAGCTTT	0.498													40	98					0	0	0	0	A	35608173	T	A	35608173	3	1	375	1	0	0	0	0	1	0	0	0	17091	1580	55	5	2059	5	UNC5D	8	35608173	Missense_Mutation	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	10358751	35608173	110755849	100	72293											
SOX17	64321	broad.mit.edu	37	chr8	55371663	55371663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggagaagcggcccttcgTggaggaggcagagcggctgc	7	4	20	10	4	0	2	0	0	0	2	1	5	0	4	1	7	3	2	1	7	1	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr8:55371663T>C	ENST00000297316.4	+	2	557	c.353T>C	c.(352-354)gTg>gCg	p.V118A		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	118					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CGGCCCTTCGTGGAGGAGGCA	0.687													7	22					0	0	0	0	C	55371663	T	C	55371663	3	2	375	1	0	0	0	0	1	0	0	0	15035	1696	59	5	359	5	SOX17	8	55371663	Missense_Mutation	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	19763490	55371663	90992359	101	72294											
ASPH	444	broad.mit.edu	37	chr8	62438566	62438566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcgtgaactggctccagtCccctttttccctcaggtttt	5	14	8	14	1	1	1	1	1	0	0	4	1	4	1	4	2	2	2	4	2	1	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr8:62438566C>T	ENST00000541428.1	-	22	1943	c.1783G>A	c.(1783-1785)Gac>Aac	p.D595N	ASPH_ENST00000379454.4_Missense_Mutation_p.D624N	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	624					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGGCTCCAGTCCCCTTTTTCC	0.493													14	110					0	0	0	0	T	62438566	C	T	62438566	3	4	375	1	0	0	0	0	1	0	0	0	1057	855	30	2	422	2	ASPH	8	62438566	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	7066903	62438566	83925456	102	72295											
SLC7A13	157724	broad.mit.edu	37	chr8	87242429	87242429	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaaaattcctgcaccaatGatattaataagcaaaaaact	21	9	3	8	0	0	1	0	1	0	0	1	1	1	1	2	0	3	2	2	0	9	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr8:87242429G>A	ENST00000297524.3	-	1	181	c.78C>T	c.(76-78)atC>atT	p.I26I	SLC7A13_ENST00000419776.2_Silent_p.I26I|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	26						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CTGCACCAATGATATTAATAA	0.433													13	73					0	0	0	0	A	87242429	G	A	87242429	2	1	375	1	0	0	0	0	0	0	0	1	14783	1280	45	2		2	SLC7A13	8	87242429	Silent	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	24803863	87242429	59121593	103	72296											
RIMS2	9699	broad.mit.edu	37	chr8	104709402	104709402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagaacagaagggtgatGcgccaacctgtggtatctgc	12	7	13	9	1	1	3	0	1	1	2	1	3	1	3	2	2	5	2	2	2	5	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr8:104709402G>T	ENST00000406091.3	+	2	265	c.265G>T	c.(265-267)Gcg>Tcg	p.A89S		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	120	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAAGGGTGATGCGCCAACCTG	0.438										HNSCC(12;0.0054)			16	80					8.60227e-14	1.05874e-13	1	0	T	104709402	G	T	104709402	3	4	375	1	0	0	0	0	1	0	0	0	13453	1319	46	4	271	4	RIMS2	8	104709402	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	17466973	104709402	41654620	104	72297											
SVEP1	79987	broad.mit.edu	37	chr9	113170218	113170218	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttgtggggaatcacagtgGatggcattgcaagatggggc	9	9	18	5	0	1	1	1	0	0	1	1	3	1	3	0	7	1	3	0	7	2	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr9:113170218G>T	ENST00000401783.2	-	38	7998	c.7662C>A	c.(7660-7662)atC>atA	p.I2554I	SVEP1_ENST00000374469.1_Silent_p.I2531I|SVEP1_ENST00000297826.5_Silent_p.I480I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2554	Sushi 20.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATCACAGTGGATGGCATTGC	0.493													12	25					6.42651e-13	7.78129e-13	1	0	T	113170218	G	T	113170218	2	4	375	1	0	0	0	0	0	0	0	1	15510	1164	41	2		2	SVEP1	9	113170218	Silent	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08		113170218	28043213	105	72298											
GOLGA2	2801	broad.mit.edu	37	chr9	131022867	131022867	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatttgcctgcgcgcctcCgcctgctccccccagagctc	4	8	10	19	3	0	1	0	0	0	1	3	2	2	2	7	1	4	2	7	1	0	1	rs146436048		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr9:131022867C>T	ENST00000421699.2	-	17	1566	c.1554G>A	c.(1552-1554)gcG>gcA	p.A518A		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	518						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TGCGCGCCTCCGCCTGCTCCC	0.667													110	134					0	0	0	0	T	131022867	C	T	131022867	2	4	375	1	0	0	0	0	0	0	0	1	6603	639	23	1		1	GOLGA2	9	131022867	Silent	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	17852649	131022867	10190564	106	72299											
MRPS2	51116	broad.mit.edu	37	chr9	138395634	138395634	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaccaacgcgcgcctcctCtttggccccacggtccgcct	4	8	9	20	5	1	1	0	1	1	0	3	1	3	1	7	2	1	0	7	2	1	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr9:138395634C>T	ENST00000371785.1	+	5	755	c.546C>T	c.(544-546)ctC>ctT	p.L182L	RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Silent_p.L182L			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	182					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CGCGCCTCCTCTTTGGCCCCA	0.607													19	32					0	0	0	0	T	138395634	C	T	138395634	2	4	375	1	0	0	0	0	0	0	0	1	9901	900	32	2		2	MRPS2	9	138395634	Silent	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	7372767	138395634	2817797	107	72300											
NOTCH1	4851	broad.mit.edu	37	chr9	139397672	139397672	+	Frame_Shift_Del	DEL	C	C	-																															tgtaggggatgttgaggctgCccagcgaggcgagcgctccc																										TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr9:139397672delC	ENST00000277541.6	-	27	5204	c.5129delG	c.(5128-5130)gcfs	p.G1710fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1710					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTGAGGCTGCCCAGCGAGGC	0.657			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			21	28	---	---	---	---					-	139397672	C	-	139397672	7	5	375	1	0	1	0	1	0	0	0	0	10617	739	26	0	2570	0	NOTCH1	9	139397672	Frame_Shift_Del	DEL	C	TCGA-D6-A6EK-01A-11D-A31L-08	1002038	139397672	1815759	108	72301											
CUBN	8029	broad.mit.edu	37	chr10	17152949	17152949	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcagtgggaagacccAggtgtattcacacactcaac	11	7	11	12	0	2	1	2	0	0	1	2	2	2	2	2	3	1	2	2	3	3	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr10:17152949A>T	ENST00000377833.4	-	9	1049	c.984T>A	c.(982-984)ccT>ccA	p.P328P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	328	EGF-like 4; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGGAAGACCCAGGTGTATTCA	0.517													12	52					0	0	0	0	T	17152949	A	T	17152949	2	4	375	1	0	0	0	0	0	0	0	1	4083	175	7	5		5	CUBN	10	17152949	Silent	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08		17152949	118381798	109	72302											
ARMC4	55130	broad.mit.edu	37	chr10	28250550	28250550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atattctgatggcaaatctgCacttgcttcctgacgatggt	9	14	9	9	1	2	2	0	2	2	0	3	3	3	2	1	2	2	3	1	2	2	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr10:28250550C>A	ENST00000305242.5	-	10	1425	c.1333G>T	c.(1333-1335)Gca>Tca	p.A445S	ARMC4_ENST00000239715.3_Missense_Mutation_p.A302S|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.A137S|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	445							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGCAAATCTGCACTTGCTTCC	0.388													4	37					0.184627	0.186291	1	0	A	28250550	C	A	28250550	3	1	375	1	0	0	0	0	1	0	0	0	957	710	25	4	1845	4	ARMC4	10	28250550	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	11097601	28250550	107284197	110	72303											
ARID5B	84159	broad.mit.edu	37	chr10	63852132	63852132	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccctaaaaaataccctgaAtcgctttcaagatcaggaaa	16	8	7	10	1	2	2	2	1	0	1	3	3	2	3	2	2	1	1	2	2	7	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr10:63852132A>T	ENST00000279873.7	+	10	3320	c.2910A>T	c.(2908-2910)gaA>gaT	p.E970D	ARID5B_ENST00000309334.5_Missense_Mutation_p.E727D	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	970					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AATACCCTGAATCGCTTTCAA	0.522													18	98					0	0	0	0	T	63852132	A	T	63852132	3	4	375	1	0	0	0	0	1	0	0	0	924	98	4	5	2948	5	ARID5B	10	63852132	Missense_Mutation	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	35601582	63852132	71682615	111	72304											
ZFYVE27	118813	broad.mit.edu	37	chr10	99512621	99512621	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggaggcaggagacccActtggtggtgctggtaagtg	7	9	17	8	0	0	1	0	0	0	1	0	3	0	2	2	6	1	3	2	6	1	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr10:99512621A>T	ENST00000393677.4	+	9	1088	c.884A>T	c.(883-885)cAc>cTc	p.H295L	ZFYVE27_ENST00000453958.2_Intron|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000337540.7_Intron|ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.H300L|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000359980.3_Intron	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	295					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CAGGAGACCCACTTGGTGGTG	0.617													7	45					0	0	0	0	T	99512621	A	T	99512621	3	4	375	1	0	0	0	0	1	0	0	0	17764	159	6	5	929	5	ZFYVE27	10	99512621	Missense_Mutation	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	35660489	99512621	36022126	112	72305											
IKZF5	64376	broad.mit.edu	37	chr10	124754116	124754116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagttacttcgatcactgCagcggaaggaacataattca	15	9	8	9	2	2	0	2	0	0	0	3	3	2	2	0	2	4	2	0	2	5	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr10:124754116C>T	ENST00000368886.5	-	5	760	c.440G>A	c.(439-441)tGc>tAc	p.C147Y	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TCGATCACTGCAGCGGAAGGA	0.433													6	50					0	0	0	0	T	124754116	C	T	124754116	3	4	375	1	0	0	0	0	1	0	0	0	7671	710	25	4	823	4	IKZF5	10	124754116	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	25241495	124754116	10780631	113	72306											
CTBP2	1488	broad.mit.edu	37	chr10	126715728	126715728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagggggtaggcaggcacctCcgccccatacctggtgtcgg	6	6	16	13	2	0	0	0	0	0	0	2	1	1	0	5	6	1	3	5	6	2	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr10:126715728C>T	ENST00000309035.6	-	1	731	c.601G>A	c.(601-603)Gag>Aag	p.E201K	CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCAGGCACCTCCGCCCCATAC	0.647													10	63					0	0	0	0	T	126715728	C	T	126715728	3	4	375	1	0	0	0	0	1	0	0	0	4030	864	30	2	2392	2	CTBP2	10	126715728	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	1961612	126715728	8819019	114	72307											
EBF3	253738	broad.mit.edu	37	chr10	131666136	131666136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acggtggcaccccccgtggtCcagccttcactgggactgat	6	8	12	15	2	1	1	1	1	0	0	2	2	2	2	5	4	1	1	5	4	0	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr10:131666136C>A	ENST00000368648.3	-	9	867	c.795G>T	c.(793-795)tgG>tgT	p.W265C	EBF3_ENST00000355311.5_Missense_Mutation_p.W274C	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	274	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.W265C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCCCCGTGGTCCAGCCTTCAC	0.587													18	56					1.15919e-05	1.27283e-05	1	0	A	131666136	C	A	131666136	3	1	375	1	0	0	0	0	1	0	0	0	4918	856	30	2	892	2	EBF3	10	131666136	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	4950408	131666136	3868611	115	72308											
OR6A2	8590	broad.mit.edu	37	chr11	6816034	6816034	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcatagggctctcttGacctcttgattgcgcaggca	8	11	11	11	1	2	2	0	2	2	0	3	2	2	2	1	2	3	5	1	2	2	5			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:6816034G>T	ENST00000332601.3	-	1	1094	c.906C>A	c.(904-906)gtC>gtA	p.V302V		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGGCTCTCTTGACCTCTTGAT	0.463													12	60					7.03913e-09	8.16976e-09	1	0	T	6816034	G	T	6816034	2	4	375	1	0	0	0	0	0	0	0	1	11257	1277	45	2		2	OR6A2	11	6816034	Silent	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08		6816034	128190482	116	72309											
OR9G4	283189	broad.mit.edu	37	chr11	56510610	56510610	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaaatcaggatagcaagAatgctggagagtactgtgaa	16	8	13	4	0	1	3	1	1	0	2	1	6	1	5	0	3	3	3	0	3	7	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:56510610A>C	ENST00000302957.3	-	1	677	c.678T>G	c.(676-678)atT>atG	p.I226M		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGATAGCAAGAATGCTGGAGA	0.488													12	42					0	0	0	0	C	56510610	A	C	56510610	3	2	375	1	0	0	0	0	1	0	0	0	11322	242	9	5	308	5	OR9G4	11	56510610	Missense_Mutation	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	49694576	56510610	78495906	117	72310											
OR4D10	390197	broad.mit.edu	37	chr11	59245110	59245110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccataatttatctattgccGatatctgcttctcttccatc	8	18	3	12	1	3	0	0	0	3	0	7	1	5	0	3	0	2	1	3	0	4	8			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:59245110G>A	ENST00000530162.1	+	1	265	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTATTGCCGATATCTGCTT	0.443													32	103					0	0	0	0	A	59245110	G	A	59245110	3	1	375	1	0	0	0	0	1	0	0	0	11125	1058	37	1	210	1	OR4D10	11	59245110	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	2734500	59245110	75761406	118	72311											
MS4A2	2206	broad.mit.edu	37	chr11	59857931	59857931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagcaggttatccattctgGggagccatatttgtgagtat	11	13	11	6	0	1	1	0	1	1	0	2	2	2	2	2	3	2	3	2	3	4	5			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:59857931G>T	ENST00000278888.3	+	3	411	c.309G>T	c.(307-309)tgG>tgT	p.W103C		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	103					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	ATCCATTCTGGGGAGCCATAT	0.343													10	49					1.58986e-06	1.78065e-06	1	0	T	59857931	G	T	59857931	3	4	375	1	0	0	0	0	1	0	0	0	9930	1241	43	4	319	4	MS4A2	11	59857931	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	612821	59857931	75148585	119	72312											
MS4A4A	51338	broad.mit.edu	37	chr11	60068506	60068506	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatccttgtcaattgcagcAggaattagaactacaaaagg	15	9	10	7	0	1	1	1	0	0	1	2	3	2	3	1	3	4	2	1	3	7	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:60068506A>T	ENST00000355131.3	+	5	529	c.306A>T	c.(304-306)gcA>gcT	p.A102A	MS4A4A_ENST00000532114.1_Silent_p.A121A|MS4A4A_ENST00000337908.4_Silent_p.A121A|MS4A4A_ENST00000395016.3_Silent_p.A102A	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	121						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CAATTGCAGCAGGAATTAGAA	0.308													3	21					0	0	0	0	T	60068506	A	T	60068506	2	4	375	1	0	0	0	0	0	0	0	1	9932	175	7	5		5	MS4A4A	11	60068506	Silent	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	210575	60068506	74938010	120	72313											
NRXN2	9379	broad.mit.edu	37	chr11	64418741	64418741	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccccttgaccagctcGatgacaatgaagtcattgcc	10	9	7	15	1	2	3	2	3	0	0	3	4	2	3	5	0	2	1	5	0	2	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:64418741G>T	ENST00000265459.6	-	14	3365	c.2904C>A	c.(2902-2904)atC>atA	p.I968I	NRXN2_ENST00000409571.1_Silent_p.I961I|NRXN2_ENST00000377551.1_Silent_p.I968I|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Silent_p.I928I	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	968	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGACCAGCTCGATGACAATGA	0.577											OREG0004037|OREG0021057	type=REGULATORY REGION|Gene=AL137356|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	44					0.000673444	0.000708223	1	0	T	64418741	G	T	64418741	2	4	375	1	0	0	0	0	0	0	0	1	10737	1048	37	3		3	NRXN2	11	64418741	Silent	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	4350235	64418741	70587775	121	72314											
SLC22A20	440044	broad.mit.edu	37	chr11	65003880	65003880	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccctactcccctgtctagGcacgcagatcctgtgcacag	8	8	8	17	1	1	1	0	0	1	1	3	1	3	1	4	1	2	3	4	1	2	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:65003880G>A	ENST00000525437.1	+	0	1297							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CCCTGTCTAGGCACGCAGATC	0.642													3	6					0	0	0	0	A	65003880	G	A	65003880	1	1	375	0	1	0	0	0	0	0	0	0	14540	1218	42	4		4	SLC22A20	11	65003880	RNA	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	585139	65003880	70002636	122	72315											
RELA	5970	broad.mit.edu	37	chr11	65421910	65421911	+	Frame_Shift_Ins	INS	-	-	C																															cgcaatggaggagaagtcttINScatctcctgaaaggaggcca																										TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:65421910_65421911insC	ENST00000406246.3	-	11	1855_1856	c.1594_1595insG	c.(1594-1596)agafs	p.R532fs	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Frame_Shift_Ins_p.R529fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	532					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGAGAAGTCTTCATCTCCTGAA	0.639													7	54	---	---	---	---					C	65421911	-	C	65421910	7	5	375	1	0	1	1	0	0	0	0	0	13298	1783	62	0	64	0	RELA	11	65421910	Frame_Shift_Ins	INS	-	TCGA-D6-A6EK-01A-11D-A31L-08	418030	65421910	69584606	123	72316											
LRP5	4041	broad.mit.edu	37	chr11	68207277	68207277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtccatgatgagctccGtgagcctgatggggggccgg	8	7	17	9	2	0	4	0	4	0	0	2	5	2	4	4	4	2	1	4	4	1	0			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:68207277G>T	ENST00000294304.7	+	21	4487	c.4381G>T	c.(4381-4383)Gtg>Ttg	p.V1461L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1461					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATGAGCTCCGTGAGCCTGAT	0.672													7	12					6.5536e-12	7.80854e-12	1	0	T	68207277	G	T	68207277	3	4	375	1	0	0	0	0	1	0	0	0	9024	1145	40	3	4463	3	LRP5	11	68207277	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	2785367	68207277	66799239	124	72317											
RSF1	51773	broad.mit.edu	37	chr11	77402211	77402211	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catataaaaataccttcgttCggcacgctctttcttcttta	10	16	4	11	3	3	0	0	0	3	0	5	0	3	0	1	1	1	3	1	1	6	9			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:77402211C>A	ENST00000308488.6	-	9	3195	c.2893G>T	c.(2893-2895)Gaa>Taa	p.E965*	RSF1_ENST00000360355.2_Nonsense_Mutation_p.E934*|RSF1_ENST00000480887.1_Nonsense_Mutation_p.E713*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	965					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TACCTTCGTTCGGCACGCTCT	0.353													17	57					5.35267e-07	6.02511e-07	1	0	A	77402211	C	A	77402211	4	1	375	1	0	0	0	0	0	1	0	0	13784	893	31	3	1464	3	RSF1	11	77402211	Nonsense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	9194934	77402211	57604305	125	72318											
MMP27	64066	broad.mit.edu	37	chr11	102567145	102567145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcggaaagttgtgatagCgtcaaaagtcaagtcagggt	12	10	13	6	2	4	1	3	1	1	0	4	2	4	2	0	2	2	1	0	2	5	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:102567145C>T	ENST00000260229.4	-	6	950	c.859G>A	c.(859-861)Gct>Act	p.A287T		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	287	Hemopexin-like 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GTTGTGATAGCGTCAAAAGTC	0.408													7	53					0	0	0	0	T	102567145	C	T	102567145	3	4	375	1	0	0	0	0	1	0	0	0	9734	768	27	1	702	1	MMP27	11	102567145	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	25164934	102567145	32439371	126	72319											
ARHGAP32	9743	broad.mit.edu	37	chr11	128839322	128839322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggtagctgactggctcaGaagtgtctggaatccctttg	7	13	13	8	0	2	2	1	1	1	1	3	3	3	3	1	3	1	3	1	3	3	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:128839322G>A	ENST00000310343.9	-	22	5743	c.5744C>T	c.(5743-5745)tCt>tTt	p.S1915F	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S1566F|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S1566F|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1915	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GACTGGCTCAGAAGTGTCTGG	0.493													20	80					0	0	0	0	A	128839322	G	A	128839322	3	1	375	1	0	0	0	0	1	0	0	0	883	942	33	2	523	2	ARHGAP32	11	128839322	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	26272177	128839322	6167194	127	72320											
CACNA1C	775	broad.mit.edu	37	chr12	2694584	2694584	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagagttggtggagaagccGgcagtgggggaatccaagga	12	5	18	6	1	0	2	0	0	0	2	1	5	1	4	2	6	1	2	2	6	4	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:2694584G>T	ENST00000399655.1	+	17	2647	c.2382G>T	c.(2380-2382)ccG>ccT	p.P794P	CACNA1C_ENST00000406454.3_Silent_p.P794P|CACNA1C_ENST00000399637.1_Silent_p.P794P|CACNA1C_ENST00000399644.1_Silent_p.P794P|CACNA1C_ENST00000399621.1_Silent_p.P794P|CACNA1C_ENST00000402845.3_Silent_p.P794P|CACNA1C_ENST00000399606.1_Silent_p.P794P|CACNA1C_ENST00000347598.4_Silent_p.P794P|CACNA1C_ENST00000399603.1_Silent_p.P794P|CACNA1C_ENST00000399617.1_Silent_p.P794P|CACNA1C_ENST00000480911.1_Silent_p.P794P|CACNA1C_ENST00000399638.1_Silent_p.P794P|CACNA1C_ENST00000344100.3_Silent_p.P794P|CACNA1C_ENST00000399591.1_Silent_p.P794P|CACNA1C_ENST00000327702.7_Silent_p.P794P|CACNA1C_ENST00000399641.1_Silent_p.P794P|CACNA1C_ENST00000399597.1_Silent_p.P794P|CACNA1C_ENST00000399629.1_Silent_p.P794P|CACNA1C_ENST00000399595.1_Silent_p.P794P|CACNA1C_ENST00000399634.1_Silent_p.P794P|CACNA1C_ENST00000399601.1_Silent_p.P794P|CACNA1C_ENST00000399649.1_Silent_p.P794P|CACNA1C_ENST00000335762.5_Silent_p.P819P	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	794					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGGAGAAGCCGGCAGTGGGGG	0.537													7	10					0.0477658	0.0493066	1	0	T	2694584	G	T	2694584	2	4	375	1	0	0	0	0	0	0	0	1	2565	1103	39	3		3	CACNA1C	12	2694584	Silent	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08		2694584	131157311	128	72321											
C12orf4	57102	broad.mit.edu	37	chr12	4639058	4639058	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtaattttttcagctcCacatctctttcaccaatcag	9	16	3	13	1	5	0	3	0	2	0	8	0	6	0	2	0	1	2	2	0	2	5	rs144033494		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:4639058C>T	ENST00000261250.3	-	4	570	c.483G>A	c.(481-483)gtG>gtA	p.V161V	C12orf4_ENST00000545746.1_Silent_p.V161V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	161										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TTTTCAGCTCCACATCTCTTT	0.333													8	42					0	0	0	0	T	4639058	C	T	4639058	2	4	375	1	0	0	0	0	0	0	0	1	1697	581	21	4		4	C12orf4	12	4639058	Silent	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	1944474	4639058	129212837	129	72322											
NCAPD2	9918	broad.mit.edu	37	chr12	6639104	6639104	+	Frame_Shift_Del	DEL	G	G	-																															ttgtaggcaagctgcgacgtGgggccaagcctgagggcaag																										TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:6639104delG	ENST00000315579.5	+	29	4616	c.3817delG	c.(3817-3819)ggfs	p.G1273fs	NCAPD2_ENST00000545962.1_Frame_Shift_Del_p.G1228fs	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1273					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCTGCGACGTGGGGCCAAGCC	0.532													11	53	---	---	---	---					-	6639104	G	-	6639104	7	5	375	1	0	1	0	1	0	0	0	0	10275	1348	47	0	3927	0	NCAPD2	12	6639104	Frame_Shift_Del	DEL	G	TCGA-D6-A6EK-01A-11D-A31L-08	2000046	6639104	127212791	130	72323											
LPCAT3	10162	broad.mit.edu	37	chr12	7086357	7086357	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggcaccattgctttgtgaAtataaggcaatatgaatagt	13	14	9	5	0	0	2	0	2	0	0	0	2	0	2	1	2	1	3	1	2	7	7			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:7086357A>T	ENST00000261407.4	-	12	1500	c.1415T>A	c.(1414-1416)aTt>aAt	p.I472N	U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	472					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TGCTTTGTGAATATAAGGCAA	0.403													11	42					0	0	0	0	T	7086357	A	T	7086357	3	4	375	1	0	0	0	0	1	0	0	0	8976	101	4	5	52	5	LPCAT3	12	7086357	Missense_Mutation	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	447253	7086357	126765538	131	72324											
FAR2	55711	broad.mit.edu	37	chr12	29485551	29485551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtattcaactttgacgtgCgccagttgaactggttggaa	10	12	12	7	2	1	2	1	2	0	0	1	3	1	3	1	3	3	3	1	3	4	5			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:29485551C>T	ENST00000182377.4	+	11	1544	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	FAR2_ENST00000547116.1_Missense_Mutation_p.R329C|FAR2_ENST00000536681.2_Missense_Mutation_p.R426C	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	426					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	p.R426C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTTTGACGTGCGCCAGTTGAA	0.403													9	39					0	0	0	0	T	29485551	C	T	29485551	3	4	375	1	0	0	0	0	1	0	0	0	5720	768	27	1	1314	1	FAR2	12	29485551	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	22399194	29485551	104366344	132	72325											
BICD1	636	broad.mit.edu	37	chr12	32481214	32481214	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttattactgccccaccgTcatctccagtattggataca	9	13	6	13	1	2	0	1	0	1	0	3	1	2	1	4	1	3	2	4	1	4	5			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:32481214T>A	ENST00000548411.1	+	5	2006	c.1825T>A	c.(1825-1827)Tca>Aca	p.S609T	BICD1_ENST00000281474.5_Missense_Mutation_p.S609T	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	609					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TGCCCCACCGTCATCTCCAGT	0.463													21	108					0	0	0	0	A	32481214	T	A	32481214	3	1	375	1	0	0	0	0	1	0	0	0	1433	1667	58	5	1843	5	BICD1	12	32481214	Missense_Mutation	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	2995663	32481214	101370681	133	72326											
C12orf44	60673	broad.mit.edu	37	chr12	52470570	52470570	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attcgttcccttcttcccagGatgcactgcgcaactctggt	6	13	8	14	2	2	0	0	0	2	0	5	1	4	1	2	2	3	3	2	2	1	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:52470570G>T	ENST00000336854.4	+	4	731	c.252_splice	c.e4-1	p.D85_splice		NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	85					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		TTCTTCCCAGGATGCACTGCG	0.567													4	35					1.024e-07	1.17629e-07	1	0	T	52470570	G	T	52470570	5	4	375	1	0	0	0	0	0	0	1	0	1702	1188	41	2	259	2	C12orf44	12	52470570	Splice_Site	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	19989356	52470570	81381325	134	72327											
SDSL	113675	broad.mit.edu	37	chr12	113873329	113873329	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatgcggccatcacagcCggcaagctggtcacacttcc	9	8	9	15	2	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	2	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:113873329C>T	ENST00000403593.4	+	6	901	c.639C>T	c.(637-639)gcC>gcT	p.A213A	SDSL_ENST00000345635.4_Silent_p.A213A			Q96GA7	SDSL_HUMAN	serine dehydratase-like	213					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	CCATCACAGCCGGCAAGCTGG	0.627													22	94					0	0	0	0	T	113873329	C	T	113873329	2	4	375	1	0	0	0	0	0	0	0	1	14063	639	23	1		1	SDSL	12	113873329	Silent	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	61402759	113873329	19978566	135	72328											
KSR2	283455	broad.mit.edu	37	chr12	117969469	117969469	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagctcacatgaaactcAcctgggaagatgaactgctg	12	9	9	11	0	2	3	2	2	0	1	3	4	3	4	2	1	4	2	2	1	3	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:117969469A>C	ENST00000425217.1	-	11	1697		c.e11+1		KSR2_ENST00000302438.5_Splice_Site|KSR2_ENST00000545002.1_Splice_Site|KSR2_ENST00000339824.5_Splice_Site	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2						intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATGAAACTCACCTGGGAAGA	0.507													8	33					0	0	0	0	C	117969469	A	C	117969469	5	2	375	1	0	0	0	0	0	0	1	0	8635	173	6	5	1161	5	KSR2	12	117969469	Splice_Site	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	4096140	117969469	15882426	136	72329											
TRPC4	7223	broad.mit.edu	37	chr13	38320186	38320186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaatgatttccagttctctgGaacttctcgtctgatccagt	8	15	8	10	1	3	2	0	2	3	0	7	4	5	3	2	1	1	1	2	1	2	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr13:38320186G>A	ENST00000379705.3	-	3	1642	c.785C>T	c.(784-786)tCc>tTc	p.S262F	TRPC4_ENST00000379673.2_Missense_Mutation_p.S262F|TRPC4_ENST00000358477.2_Missense_Mutation_p.S262F|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000426868.2_Missense_Mutation_p.S262F|TRPC4_ENST00000355779.2_Missense_Mutation_p.S262F|TRPC4_ENST00000447043.1_Missense_Mutation_p.S262F|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.S262F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	262	Multimerization domain (By similarity).				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)		CAGTTCTCTGGAACTTCTCGT	0.403													22	106					0	0	0	0	A	38320186	G	A	38320186	3	1	375	1	0	0	0	0	1	0	0	0	16675	1174	41	2	2199	2	TRPC4	13	38320186	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08		38320186	76849692	137	72330											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281365	49281366	+	Frame_Shift_Ins	INS	-	-	T																															gctgagtgttgtgcgtttccINStggcaatggttcaccccttt																										TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr13:49281365_49281366insT	ENST00000282018.3	+	1	415_416	c.412_413insT	c.(412-414)ggcfs	p.G138fs		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	138					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGTGCGTTTCCTGGCAATGGTT	0.47													17	112	---	---	---	---					T	49281366	-	T	49281365	7	5	375	1	0	1	1	0	0	0	0	0	4234	680	24	0	414	0	CYSLTR2	13	49281365	Frame_Shift_Ins	INS	-	TCGA-D6-A6EK-01A-11D-A31L-08	10961179	49281365	65888513	138	72331											
DIAPH3	81624	broad.mit.edu	37	chr13	60566632	60566632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatctctttcaatccacaaCgcataaattcatttctgatg	13	15	3	10	1	4	1	2	1	2	0	6	1	5	1	1	0	1	1	1	0	5	5			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr13:60566632C>T	ENST00000400324.4	-	10	1320	c.1100G>A	c.(1099-1101)cGt>cAt	p.R367H	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R297H|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R321H|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R367H|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R367H|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R356H	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	367	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAATCCACAACGCATAAATTC	0.363													5	16					0	0	0	0	T	60566632	C	T	60566632	3	4	375	1	0	0	0	0	1	0	0	0	4557	536	19	1	2577	1	DIAPH3	13	60566632	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	11285267	60566632	54603246	139	72332											
TMTC4	84899	broad.mit.edu	37	chr13	101266634	101266634	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctctggtttcagcacggtGgcatttctccacgcattcaa	7	13	9	12	2	4	0	2	0	2	0	5	0	4	0	1	3	2	5	1	3	1	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr13:101266634G>T	ENST00000342624.5	-	16	2145	c.1887C>A	c.(1885-1887)gcC>gcA	p.A629A	TMTC4_ENST00000328767.5_Silent_p.A499A|TMTC4_ENST00000376234.3_Silent_p.A610A	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	610						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCAGCACGGTGGCATTTCTCC	0.448													21	79					9.90768e-06	1.09326e-05	1	0	T	101266634	G	T	101266634	2	4	375	1	0	0	0	0	0	0	0	1	16357	1335	47	4		4	TMTC4	13	101266634	Silent	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	40700002	101266634	13903244	140	72333											
TUBGCP3	10426	broad.mit.edu	37	chr13	113174235	113174235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccagccttcgcaggatctCaggactgtcaaactgtgcgt	8	10	11	12	2	2	0	2	0	1	0	5	2	3	2	2	2	3	1	2	2	1	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr13:113174235C>T	ENST00000261965.3	-	15	2032	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.E616K	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	616					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CGCAGGATCTCAGGACTGTCA	0.592													28	74					0	0	0	0	T	113174235	C	T	113174235	3	4	375	1	0	0	0	0	1	0	0	0	16863	835	29	2	909	2	TUBGCP3	13	113174235	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	11907601	113174235	1995643	141	72334											
OR4K17	390436	broad.mit.edu	37	chr14	20585576	20585577	+	Frame_Shift_Ins	INS	-	-	C																															gtttttcatatggctctttaINStttttcactcatactccatg																										TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr14:20585576_20585577insC	ENST00000315543.4	+	1	11_12	c.11_12insC	c.(10-12)tttfs	p.F4fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATGGCTCTTTATTTTTCACTCA	0.361													13	26	---	---	---	---					C	20585577	-	C	20585576	7	5	375	1	0	1	1	0	0	0	0	0	11142	449	16	0	13	0	OR4K17	14	20585576	Frame_Shift_Ins	INS	-	TCGA-D6-A6EK-01A-11D-A31L-08		20585576	86763964	142	72335											
OR11H6	122748	broad.mit.edu	37	chr14	20692042	20692042	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctatctcctgacactgctAgggaatggagctattgtctg	8	13	10	10	0	3	1	0	1	3	0	4	3	3	3	1	2	2	2	1	2	4	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr14:20692042A>G	ENST00000315519.2	+	1	252	c.174A>G	c.(172-174)ctA>ctG	p.L58L		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TGACACTGCTAGGGAATGGAG	0.478													13	64					0	0	0	0	G	20692042	A	G	20692042	2	3	375	1	0	0	0	0	0	0	0	1	11000	407	15	5		5	OR11H6	14	20692042	Silent	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	106466	20692042	86657498	143	72336											
TJP1	7082	broad.mit.edu	37	chr15	30025364	30025364	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaattcgaatagcaagcCaagagcccagttttccattg	13	10	7	11	1	0	1	0	0	0	1	2	2	1	1	4	0	4	2	4	0	6	6			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:30025364C>T	ENST00000346128.6	-	13	2144	c.1670G>A	c.(1669-1671)tGg>tAg	p.W557*	TJP1_ENST00000356107.6_Nonsense_Mutation_p.W557*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.W557*|TJP1_ENST00000400011.2_Nonsense_Mutation_p.W561*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	557	SH3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AATAGCAAGCCAAGAGCCCAG	0.388													10	54					0	0	0	0	T	30025364	C	T	30025364	4	4	375	1	0	0	0	0	0	1	0	0	16023	595	21	4	3640	4	TJP1	15	30025364	Nonsense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08		30025364	72506028	144	72337											
AQR	9716	broad.mit.edu	37	chr15	35196564	35196564	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttattttcctttggttttctCctcattattatattaaaagt	9	23	3	6	0	2	0	1	0	1	0	4	0	3	0	2	1	0	1	2	1	6	10			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:35196564C>G	ENST00000156471.5	-	19	2199	c.1974G>C	c.(1972-1974)agG>agC	p.R658S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	658						catalytic step 2 spliceosome	RNA binding	p.R658R(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTGGTTTTCTCCTCATTATTA	0.289													7	32					0	0	0	0	G	35196564	C	G	35196564	3	3	375	1	0	0	0	0	1	0	0	0	837	854	30	2	2551	2	AQR	15	35196564	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	5171200	35196564	67334828	145	72338											
CTDSPL2	51496	broad.mit.edu	37	chr15	44789262	44789262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtcccgccactgacagaaGaacaactaaataggaaacct	17	6	7	11	1	0	3	0	1	0	2	1	4	1	4	3	1	3	0	3	1	7	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:44789262G>A	ENST00000260327.4	+	7	1371	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	CTDSPL2_ENST00000558966.1_Missense_Mutation_p.E270K|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.E198K|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.E198K|CTDSPL2_ENST00000561189.1_3'UTR	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	270							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		ACTGACAGAAGAACAACTAAA	0.323													15	58					0	0	0	0	A	44789262	G	A	44789262	3	1	375	1	0	0	0	0	1	0	0	0	4038	943	33	2	830	2	CTDSPL2	15	44789262	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	9592698	44789262	57742130	146	72339											
ATP8B4	79895	broad.mit.edu	37	chr15	50331023	50331023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgattatcactcttgtggcGaaactgaaaaatcaaagtgt	14	13	8	6	1	3	2	2	2	1	0	3	3	3	2	0	1	1	0	0	1	5	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:50331023G>A	ENST00000284509.6	-	6	445	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R102C|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	102					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCTTGTGGCGAAACTGAAAA	0.363													11	38					0	0	0	0	A	50331023	G	A	50331023	3	1	375	1	0	0	0	0	1	0	0	0	1201	1058	37	1	3366	1	ATP8B4	15	50331023	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	5541761	50331023	52200369	147	72340											
ZNF280D	54816	broad.mit.edu	37	chr15	56974508	56974508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttaaaggttgtgtgagtCttctgttcctcctggacatc	7	16	9	9	0	2	1	0	1	2	0	5	2	4	2	2	2	0	2	2	2	2	5			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:56974508C>T	ENST00000559237.1	-	9	1592	c.909G>A	c.(907-909)aaG>aaA	p.K303K	ZNF280D_ENST00000267807.7_Silent_p.K316K|ZNF280D_ENST00000559000.1_Silent_p.K303K|ZNF280D_ENST00000396245.1_Silent_p.K20K	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTGTGTGAGTCTTCTGTTCCT	0.284													3	30					0	0	0	0	T	56974508	C	T	56974508	2	4	375	1	0	0	0	0	0	0	0	1	17912	912	32	2		2	ZNF280D	15	56974508	Silent	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	6643485	56974508	45556884	148	72341											
CGNL1	84952	broad.mit.edu	37	chr15	57837890	57837890	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcattgactgatcagAaggaccaggtggggagcctc	10	8	13	10	0	2	3	2	2	0	1	3	5	2	5	3	4	1	0	3	4	1	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:57837890A>T	ENST00000281282.5	+	17	3679	c.3601A>T	c.(3601-3603)Aag>Tag	p.K1201*		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1201						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GACTGATCAGAAGGACCAGGT	0.582													6	17					0	0	0	0	T	57837890	A	T	57837890	4	4	375	1	0	0	0	0	0	1	0	0	3333	247	9	5	3663	5	CGNL1	15	57837890	Nonsense_Mutation	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	863382	57837890	44693502	149	72342											
CORO2B	10391	broad.mit.edu	37	chr15	69003107	69003107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccgagggcgggctgaagCggaacatgacggaggcgctc	8	4	17	12	5	0	2	0	2	0	0	2	5	1	4	2	5	2	2	2	5	2	0			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:69003107C>T	ENST00000543950.1	+	4	709	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	CORO2B_ENST00000540068.1_Missense_Mutation_p.R119W|CORO2B_ENST00000261861.5_Missense_Mutation_p.R119W|CORO2B_ENST00000566799.1_Missense_Mutation_p.R124W	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	124					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CGGGCTGAAGCGGAACATGAC	0.657													3	17					0	0	0	0	T	69003107	C	T	69003107	3	4	375	1	0	0	0	0	1	0	0	0	3787	759	27	1	384	1	CORO2B	15	69003107	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	11165217	69003107	33528285	150	72343											
STOML1	9399	broad.mit.edu	37	chr15	74281125	74281125	+	Frame_Shift_Del	DEL	C	C	-																															ggctcccacggacagcacagCcccgtccttagaggccagct																										TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:74281125delC	ENST00000316900.5	-	4	533	c.409delG	c.(409-411)ctfs	p.A137fs	STOML1_ENST00000316911.6_Frame_Shift_Del_p.A87fs|STOML1_ENST00000564777.1_Frame_Shift_Del_p.A87fs|STOML1_ENST00000561656.1_Frame_Shift_Del_p.A50fs|STOML1_ENST00000541638.1_Frame_Shift_Del_p.A95fs|STOML1_ENST00000359750.4_Frame_Shift_Del_p.A137fs	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	137						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GACAGCACAGCCCCGTCCTTA	0.632													15	93	---	---	---	---					-	74281125	C	-	74281125	7	5	375	1	0	1	0	1	0	0	0	0	15403	739	26	0	803	0	STOML1	15	74281125	Frame_Shift_Del	DEL	C	TCGA-D6-A6EK-01A-11D-A31L-08	5278018	74281125	28250267	151	72344											
RASGRF1	5923	broad.mit.edu	37	chr15	79350810	79350810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcctcatgctctgtggCgagggtcctgtagctgtgga	6	12	14	9	1	2	0	1	0	1	0	3	2	3	1	2	3	3	3	2	3	2	2	rs140019990		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:79350810C>T	ENST00000419573.3	-	3	671	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	RASGRF1_ENST00000558480.2_Missense_Mutation_p.A133T|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	133					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGCTCTGTGGCGAGGGTCCTG	0.577													8	55					0	0	0	0	T	79350810	C	T	79350810	3	4	375	1	0	0	0	0	1	0	0	0	13154	768	27	1	3528	1	RASGRF1	15	79350810	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	5069685	79350810	23180582	152	72345											
SLC12A3	6559	broad.mit.edu	37	chr16	56904621	56904621	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actgtgctgctggccatctcCctggctggcatggagtggga	5	10	15	11	0	1	0	0	0	1	0	2	2	1	2	2	5	2	4	2	5	0	0	rs140167332		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr16:56904621C>T	ENST00000438926.2	+	6	854	c.825C>T	c.(823-825)tcC>tcT	p.S275S	SLC12A3_ENST00000566786.1_Silent_p.S274S|SLC12A3_ENST00000563236.1_Silent_p.S275S|SLC12A3_ENST00000262502.5_Silent_p.S274S	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	275					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGGCCATCTCCCTGGCTGGCA	0.632													5	35					0	0	0	0	T	56904621	C	T	56904621	2	4	375	1	0	0	0	0	0	0	0	1	14472	610	22	4		4	SLC12A3	16	56904621	Silent	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08		56904621	33450132	153	72346											
HAS3	3038	broad.mit.edu	37	chr16	69143484	69143484	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcattcagagccttttTgccttcctggagcaccggcg	5	12	10	14	2	2	1	2	0	0	1	3	2	3	2	4	2	4	2	4	2	0	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr16:69143484T>A	ENST00000306560.1	+	2	342	c.186T>A	c.(184-186)ttT>ttA	p.F62L	HAS3_ENST00000569188.1_Missense_Mutation_p.F62L|HAS3_ENST00000219322.3_Missense_Mutation_p.F62L	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	62					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		AGAGCCTTTTTGCCTTCCTGG	0.647													10	52					0	0	0	0	A	69143484	T	A	69143484	3	1	375	1	0	0	0	0	1	0	0	0	7013	1809	63	5	188	5	HAS3	16	69143484	Missense_Mutation	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	12238863	69143484	21211269	154	72347											
XAF1	54739	broad.mit.edu	37	chr17	6674069	6674069	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgaaaatcaaacttccacGatggagaaagatgttcgtcc	14	9	9	9	2	1	3	1	1	0	2	4	5	3	3	2	1	1	2	2	1	4	2	rs143903776		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr17:6674069G>A	ENST00000361842.3	+	6	854	c.615G>A	c.(613-615)acG>acA	p.T205T	XAF1_ENST00000346752.4_Silent_p.T186T|XAF1_ENST00000441631.1_Silent_p.T205T	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	205					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						AAACTTCCACGATGGAGAAAG	0.378													16	59					0	0	0	0	A	6674069	G	A	6674069	2	1	375	1	0	0	0	0	0	0	0	1	17515	1045	37	1		1	XAF1	17	6674069	Silent	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08		6674069	74521141	155	72348											
MYO19	80179	broad.mit.edu	37	chr17	34859817	34859817	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccagcagcactgataTggatggtctccacgaggcca	11	6	13	11	1	1	1	0	1	1	0	2	4	1	3	3	4	3	2	3	4	2	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr17:34859817T>C	ENST00000431794.3	-	20	2471	c.1949A>G	c.(1948-1950)cAt>cGt	p.H650R	MYO19_ENST00000268852.9_Missense_Mutation_p.H450R	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	650	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGCACTGATATGGATGGTCTC	0.637													4	10					0	0	0	0	C	34859817	T	C	34859817	3	2	375	1	0	0	0	0	1	0	0	0	10137	1464	51	5	991	5	MYO19	17	34859817	Missense_Mutation	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	28185748	34859817	46335393	156	72349											
AKAP1	8165	broad.mit.edu	37	chr17	55194253	55194253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccctgccgtttcagggagCagaagtccttctggacagtg	8	9	12	12	1	2	1	1	0	1	1	3	3	3	3	3	2	2	2	3	2	1	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr17:55194253C>A	ENST00000337714.3	+	8	2698	c.2465C>A	c.(2464-2466)gCa>gAa	p.A822E	AKAP1_ENST00000572557.1_Missense_Mutation_p.A822E|AKAP1_ENST00000571629.1_Missense_Mutation_p.A822E|AKAP1_ENST00000539273.1_Missense_Mutation_p.A822E	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	822					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TTTCAGGGAGCAGAAGTCCTT	0.512													12	84					0.000151284	0.00016137	1	0	A	55194253	C	A	55194253	3	1	375	1	0	0	0	0	1	0	0	0	445	710	25	4	2491	4	AKAP1	17	55194253	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	20334436	55194253	26000957	157	72350											
PPM1D	8493	broad.mit.edu	37	chr17	58740836	58740836	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actctgttaaactcaccatgCgacgcagacttaggggccag	11	8	10	12	2	2	1	1	0	1	1	2	2	2	1	2	2	2	2	2	2	3	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr17:58740836C>T	ENST00000305921.3	+	6	1973	c.1741C>T	c.(1741-1743)Cga>Tga	p.R581*		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	581					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACTCACCATGCGACGCAGACT	0.448											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	10	59					0	0	0	0	T	58740836	C	T	58740836	4	4	375	1	0	0	0	0	0	1	0	0	12413	760	27	1	1763	1	PPM1D	17	58740836	Nonsense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	3546583	58740836	22454374	158	72351											
UNC13D	201294	broad.mit.edu	37	chr17	73831565	73831565	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccaggaggggatggcCggctggaaccagcggtggaa	9	4	19	9	2	0	0	0	0	0	0	0	4	0	4	3	8	4	2	3	8	2	0			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr17:73831565C>T	ENST00000207549.4	-	20	2152	c.1773G>A	c.(1771-1773)ccG>ccA	p.P591P	UNC13D_ENST00000412096.2_Silent_p.P591P	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	591	MHD1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGGGATGGCCGGCTGGAACC	0.692									Familial Hemophagocytic Lymphohistiocytosis				4	14					0	0	0	0	T	73831565	C	T	73831565	2	4	375	1	0	0	0	0	0	0	0	1	17083	639	23	1		1	UNC13D	17	73831565	Silent	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	15090729	73831565	7363645	159	72352											
NPLOC4	55666	broad.mit.edu	37	chr17	79526391	79526391	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtggccgtgtgtgtggagCccccgacggcgccgtactca	5	7	15	14	5	1	0	1	0	0	0	1	2	1	1	4	3	2	1	4	3	1	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr17:79526391C>A	ENST00000331134.6	-	17	1936	c.1721G>T	c.(1720-1722)gGc>gTc	p.G574V	NPLOC4_ENST00000572760.1_Missense_Mutation_p.A39S|NPLOC4_ENST00000573876.1_Missense_Mutation_p.A39S	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	574					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GTGTGTGGAGCCCCCGACGGC	0.632													6	17					0.00116845	0.00122305	1	0	A	79526391	C	A	79526391	3	1	375	1	0	0	0	0	1	0	0	0	10657	739	26	4	109	4	NPLOC4	17	79526391	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	5694826	79526391	1668819	160	72353											
MRO	83876	broad.mit.edu	37	chr18	48327856	48327856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacaaaacaaaggccgagtAtctcagactgtcgttctcct	14	9	7	11	2	2	1	1	0	2	1	5	2	2	1	2	1	2	2	2	1	5	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr18:48327856A>G	ENST00000428869.2	-	7	706	c.448T>C	c.(448-450)Tac>Cac	p.Y150H	MRO_ENST00000588444.1_Intron|MRO_ENST00000256425.2_Missense_Mutation_p.Y150H|MRO_ENST00000398439.3_Missense_Mutation_p.Y150H|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000436348.2_Missense_Mutation_p.Y164H|MRO_ENST00000431965.2_Intron			Q9BYG7	MSTRO_HUMAN	maestro	150						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		AAGGCCGAGTATCTCAGACTG	0.468													41	165					0	0	0	0	G	48327856	A	G	48327856	3	3	375	1	0	0	0	0	1	0	0	0	9842	449	16	5	310	5	MRO	18	48327856	Missense_Mutation	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08		48327856	29749392	161	72354											
PQLC1	80148	broad.mit.edu	37	chr18	77664035	77664035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccggcttctgggggtggcGggcgaaggcgtaggcctgcc	3	6	20	12	5	1	0	0	0	1	0	1	1	1	0	3	7	1	2	3	7	2	2	rs148418095	byFrequency	TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr18:77664035G>A	ENST00000397778.2	-	6	939	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	PQLC1_ENST00000590381.1_3'UTR|PQLC1_ENST00000409073.1_Missense_Mutation_p.R170C|PQLC1_ENST00000357575.4_Missense_Mutation_p.R235C|PQLC1_ENST00000590895.1_5'UTR	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	253						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TGGGGGTGGCGGGCGAAGGCG	0.706													6	23					0	0	0	0	A	77664035	G	A	77664035	3	1	375	1	0	0	0	0	1	0	0	0	12494	1116	39	1	62	1	PQLC1	18	77664035	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	29336179	77664035	413213	162	72355											
FSTL3	10272	broad.mit.edu	37	chr19	681501	681501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcctcgtgccacatgcGccaggccacctgcttcctgg	5	9	9	18	2	1	0	0	0	1	0	4	0	2	0	6	2	3	1	6	2	0	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:681501G>A	ENST00000166139.4	+	4	706	c.674G>A	c.(673-675)cGc>cAc	p.R225H	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	225	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGCCACATGCGCCAGGCCACC	0.716			T	CCND1	B-CLL								7	24					0	0	0	0	A	681501	G	A	681501	3	1	375	1	0	0	0	0	1	0	0	0	6126	1087	38	1	688	1	FSTL3	19	681501	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08		681501	58447482	163	72356											
SGTA	6449	broad.mit.edu	37	chr19	2767677	2767677	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacgcagtctccaggcactgGatggcgactgaagcggggac	10	5	15	11	3	1	1	0	1	1	0	2	4	1	3	1	5	2	2	1	5	2	0			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:2767677G>A	ENST00000221566.2	-	3	269	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	36					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		CCAGGCACTGGATGGCGACTG	0.607													13	42					0	0	0	0	A	2767677	G	A	2767677	2	1	375	1	0	0	0	0	0	0	0	1	14312	1164	41	2		2	SGTA	19	2767677	Silent	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	2086176	2767677	56361306	164	72357											
EEF2	1938	broad.mit.edu	37	chr19	3979344	3979344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgatggggatgcaggCgtggtcctcctccaggtcct	5	10	13	13	1	0	1	0	1	0	0	4	2	4	2	5	5	1	1	5	5	0	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:3979344C>T	ENST00000309311.6	-	11	1784	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	566						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGATGCAGGCGTGGTCCTCC	0.632													24	116					0	0	0	0	T	3979344	C	T	3979344	3	4	375	1	0	0	0	0	1	0	0	0	4965	768	27	1	900	1	EEF2	19	3979344	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	1211667	3979344	55149639	165	72358											
FARSA	2193	broad.mit.edu	37	chr19	13035338	13035338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgaagcggagttgcgtgaTacctgcaggaagtggggggc	8	8	18	7	2	0	2	0	2	0	0	0	4	0	4	1	5	4	2	1	5	3	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:13035338T>C	ENST00000588025.1	-	12	1458	c.1318A>G	c.(1318-1320)Atc>Gtc	p.I440V	FARSA_ENST00000423140.2_Missense_Mutation_p.I369V|FARSA_ENST00000314606.4_Missense_Mutation_p.I400V			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	400					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	AGTTGCGTGATACCTGCAGGA	0.612													23	86					0	0	0	0	C	13035338	T	C	13035338	3	2	375	1	0	0	0	0	1	0	0	0	5724	1406	49	5	340	5	FARSA	19	13035338	Missense_Mutation	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	9055994	13035338	46093645	166	72359											
SLC5A5	6528	broad.mit.edu	37	chr19	17988632	17988632	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgaaccaggcgcaggtgCagcgctacgtggcttgccgc	6	6	16	13	5	0	1	0	1	0	0	0	1	0	1	2	3	5	4	2	3	2	2	rs121909176		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:17988632C>A	ENST00000222248.3	+	6	1146	c.799C>A	c.(799-801)Cag>Aag	p.Q267K		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	267			Q -> E (in TDH1).		cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGCGCAGGTGCAGCGCTACGT	0.607													26	89					1.12875e-08	1.3033e-08	1	0	A	17988632	C	A	17988632	3	1	375	1	0	0	0	0	1	0	0	0	14756	711	25	4	821	4	SLC5A5	19	17988632	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	4953294	17988632	41140351	167	72360											
ZNF681	148213	broad.mit.edu	37	chr19	23927979	23927979	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaagtccattataacctcCtttttgcactttgcactcat	9	17	4	11	0	1	0	1	0	0	0	3	0	3	0	3	0	3	3	3	0	3	6			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:23927979C>A	ENST00000402377.3	-	4	514	c.373G>T	c.(373-375)Gga>Tga	p.G125*	ZNF681_ENST00000395385.3_Nonsense_Mutation_p.G56*	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTATAACCTCCTTTTTGCACT	0.294													3	22					0.115264	0.11736	1	0	A	23927979	C	A	23927979	4	1	375	1	0	0	0	0	0	1	0	0	18183	690	24	4	1568	4	ZNF681	19	23927979	Nonsense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	5939347	23927979	35201004	168	72361											
TSHZ3	57616	broad.mit.edu	37	chr19	31768178	31768178	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatctgacaaggcattctCgcgtagcggcgagtttgaca	10	11	11	9	4	2	2	0	2	2	0	3	3	2	2	0	2	1	3	0	2	4	5			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:31768178C>A	ENST00000240587.4	-	2	2848	c.2521G>T	c.(2521-2523)Gag>Tag	p.E841*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	841					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AAGGCATTCTCGCGTAGCGGC	0.522													24	72					9.39395e-14	1.14986e-13	1	0	A	31768178	C	A	31768178	4	1	375	1	0	0	0	0	0	1	0	0	16720	893	31	3	728	3	TSHZ3	19	31768178	Nonsense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	7840199	31768178	27360805	169	72362											
NCCRP1	342897	broad.mit.edu	37	chr19	39691035	39691035	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgagctgcatgtctggCtgctggcggccgaccgccgc	4	9	14	14	4	2	1	0	1	2	0	2	2	2	1	3	3	3	4	3	3	1	1			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:39691035C>T	ENST00000339852.4	+	5	620	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	200	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GCATGTCTGGCTGCTGGCGGC	0.657													33	165					0	0	0	0	T	39691035	C	T	39691035	2	4	375	1	0	0	0	0	0	0	0	1	10283	796	28	4		4	NCCRP1	19	39691035	Silent	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	7922857	39691035	19437948	170	72363											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41812381	41812381	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagtggaaccagtactatCagaaccagggccagtggccg	12	5	13	11	1	1	1	1	0	0	1	1	2	1	2	4	3	4	2	4	3	4	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:41812381C>T	ENST00000392006.3	+	15	2655	c.2482C>T	c.(2482-2484)Cag>Tag	p.Q828*	HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.Q724*|HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.Q738*|HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.Q728*|HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.Q776*|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.Q728*|HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.Q739*	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	828	Gln-rich.|Necessary for interaction with TP53.|Tyr-rich.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCAGTACTATCAGAACCAGGG	0.567													32	85					0	0	0	0	T	41812381	C	T	41812381	4	4	375	1	0	0	0	0	0	1	0	0	7324	827	29	2	2540	2	HNRNPUL1	19	41812381	Nonsense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08	2121346	41812381	17316602	171	72364											
DMWD	1762	broad.mit.edu	37	chr19	46289614	46289614	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgcctcctctgcccttgtGgtgtaggggtcaaaggccac	5	9	13	14	1	2	0	1	0	1	0	3	0	3	0	5	4	1	1	5	4	2	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:46289614G>A	ENST00000270223.6	-	3	1185	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	DMWD_ENST00000377735.3_Silent_p.T380T	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	380					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CTGCCCTTGTGGTGTAGGGGT	0.687													25	76					0	0	0	0	A	46289614	G	A	46289614	2	1	375	1	0	0	0	0	0	0	0	1	4630	1335	47	4		4	DMWD	19	46289614	Silent	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	4477233	46289614	12839369	172	72365											
ZNF473	25888	broad.mit.edu	37	chr19	50550296	50550296	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcagcgtgtacacaacAagcagcaatactgcctgtag	13	7	9	12	1	1	0	1	0	0	0	1	0	1	0	2	0	7	4	2	0	6	3			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:50550296A>T	ENST00000595661.1	+	6	3091	c.2596A>T	c.(2596-2598)Aag>Tag	p.K866*	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.K866*|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.K866*|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.K854*			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	866					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGTACACAACAAGCAGCAATA	0.507											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	32					0	0	0	0	T	50550296	A	T	50550296	4	4	375	1	0	0	0	0	0	1	0	0	18026	131	5	5	2610	5	ZNF473	19	50550296	Nonsense_Mutation	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	4260682	50550296	8578687	173	72366											
KIF16B	55614	broad.mit.edu	37	chr20	16360435	16360435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcttggcatactgttcatCtttttccttttggagctggt	6	18	9	8	0	2	0	1	0	1	0	3	1	3	1	1	3	3	4	1	3	2	7	rs143610596	byFrequency	TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr20:16360435C>T	ENST00000354981.2	-	19	2369	c.2212G>A	c.(2212-2214)Gat>Aat	p.D738N	KIF16B_ENST00000408042.1_Missense_Mutation_p.D738N|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.D738N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	738	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TACTGTTCATCTTTTTCCTTT	0.468													18	91					0	0	0	0	T	16360435	C	T	16360435	3	4	375	1	0	0	0	0	1	0	0	0	8329	913	32	2	1773	2	KIF16B	20	16360435	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08		16360435	46665085	174	72367											
ITCH	83737	broad.mit.edu	37	chr20	33077107	33077107	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttgtctcgaggtgttgaAgaacagacacaagctttctt	11	12	11	7	1	2	3	0	1	2	2	3	4	2	3	0	2	2	3	0	2	3	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr20:33077107A>G	ENST00000374864.4	+	21	2343	c.2130A>G	c.(2128-2130)gaA>gaG	p.E710E	ITCH_ENST00000535650.1_Silent_p.E600E|ITCH_ENST00000262650.6_Silent_p.E751E	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	751	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GAGGTGTTGAAGAACAGACAC	0.348													12	41					0	0	0	0	G	33077107	A	G	33077107	2	3	375	1	0	0	0	0	0	0	0	1	7921	69	3	5		5	ITCH	20	33077107	Silent	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	16716672	33077107	29948413	175	72368											
CDH4	1002	broad.mit.edu	37	chr20	60427861	60427861	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acaaggtggagaaccccatcGacctgtacatctacgtcatc	12	8	8	13	2	2	1	1	0	1	1	4	3	2	1	3	2	3	1	3	2	4	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr20:60427861G>C	ENST00000360469.5	+	6	872	c.784G>C	c.(784-786)Gac>Cac	p.D262H	CDH4_ENST00000543233.1_Missense_Mutation_p.D188H	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	262	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GAACCCCATCGACCTGTACAT	0.597													27	93					0	0	0	0	C	60427861	G	C	60427861	3	2	375	1	0	0	0	0	1	0	0	0	3141	1058	37	3	806	3	CDH4	20	60427861	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	27350754	60427861	2597659	176	72369											
RTEL1	51750	broad.mit.edu	37	chr20	62326924	62326924	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgtgtgccagggctgtgGggcagaggacgtggtgccct	4	9	19	9	1	0	1	0	0	0	1	0	2	0	2	2	5	2	2	2	5	0	0			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr20:62326924G>C	ENST00000318100.4	+	34	4570	c.3743G>C	c.(3742-3744)gGg>gCg	p.G1248A	RTEL1_ENST00000360203.5_Missense_Mutation_p.G1248A|RTEL1_ENST00000508582.2_Intron|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.G1248A|RTEL1_ENST00000370003.1_Missense_Mutation_p.G493A|RTEL1_ENST00000370018.3_Intron			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	0					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAGGGCTGTGGGGCAGAGGAC	0.672													9	46					0	0	0	0	C	62326924	G	C	62326924	3	2	375	1	0	0	0	0	1	0	0	0	13805	1232	43	4	3873	4	RTEL1	20	62326924	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	1899063	62326924	698596	177	72370											
MORC3	23515	broad.mit.edu	37	chr21	37713740	37713740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttgaaaaggataaatatGatatcagaattcccgaggat	17	12	8	4	1	1	3	1	2	0	1	2	6	2	5	1	2	0	0	1	2	7	6			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr21:37713740G>A	ENST00000400485.1	+	6	728	c.652G>A	c.(652-654)Gat>Aat	p.D218N	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	218					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GGATAAATATGATATCAGAAT	0.373													6	33					0	0	0	0	A	37713740	G	A	37713740	3	1	375	1	0	0	0	0	1	0	0	0	9773	1290	45	2	674	2	MORC3	21	37713740	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08		37713740	10416155	178	72371											
RASD2	23551	broad.mit.edu	37	chr22	35947786	35947786	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagaactgcgcctacttcGaggtgtcggccaagaagaac	12	6	12	11	4	0	3	0	0	0	3	2	5	0	3	2	2	4	0	2	2	5	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr22:35947786G>T	ENST00000216127.4	+	3	1150	c.508G>T	c.(508-510)Gag>Tag	p.E170*		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	170					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CGCCTACTTCGAGGTGTCGGC	0.622													8	19					0.000157383	0.00016708	1	0	T	35947786	G	T	35947786	4	4	375	1	0	0	0	0	0	1	0	0	13149	1059	37	3	514	3	RASD2	22	35947786	Nonsense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08		35947786	15356780	179	72372											
DNAJB7	150353	broad.mit.edu	37	chr22	41257531	41257531	+	Frame_Shift_Del	DEL	T	T	-																															aatgaaccctgtgatgtataTcctgtatcatatgaagaaaa																										TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr22:41257531delT	ENST00000307221.4	-	1	599	c.468delA	c.(466-468)ggfs	p.G156fs	XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	156					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						GTGATGTATATCCTGTATCAT	0.393													15	52	---	---	---	---					-	41257531	T	-	41257531	7	5	375	1	0	1	0	1	0	0	0	0	4661	1422	50	0	465	0	DNAJB7	22	41257531	Frame_Shift_Del	DEL	T	TCGA-D6-A6EK-01A-11D-A31L-08	5309745	41257531	10047035	180	72373											
CPT1B	1375	broad.mit.edu	37	chr22	51011377	51011377	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcttcggggtcataggAgtaggattcctcatccaggg	8	11	12	10	1	4	0	3	0	1	0	7	2	6	2	2	5	0	1	2	5	2	4			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr22:51011377A>G	ENST00000360719.2	-	11	1416	c.1279T>C	c.(1279-1281)Tcc>Ccc	p.S427P	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.S393P|CPT1B_ENST00000434492.2_Missense_Mutation_p.S224P|CPT1B_ENST00000405237.3_Missense_Mutation_p.S427P|CPT1B_ENST00000395650.2_Missense_Mutation_p.S427P|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000312108.7_Missense_Mutation_p.S427P	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	427			S -> C (in dbSNP:rs8142477).		carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GGGTCATAGGAGTAGGATTCC	0.587													27	127					0	0	0	0	G	51011377	A	G	51011377	3	3	375	1	0	0	0	0	1	0	0	0	3862	304	11	5	1075	5	CPT1B	22	51011377	Missense_Mutation	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	9753846	51011377	293189	181	72374											
USP9X	8239	broad.mit.edu	37	chrX	41073879	41073879	+	Frame_Shift_Del	DEL	C	C	-																															acattagaaatcaccaaaatCttcttgattctttggaacag																										TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chrX:41073879delC	ENST00000324545.7	+	34	5881	c.5248delC	c.(5248-5250)ttfs	p.L1751fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.L1751fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1751					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCACCAAAATCTTCTTGATTC	0.333													17	19	---	---	---	---					-	41073879	C	-	41073879	7	5	375	1	0	1	0	1	0	0	0	0	17186	913	32	0	5378	0	USP9X	23	41073879	Frame_Shift_Del	DEL	C	TCGA-D6-A6EK-01A-11D-A31L-08		41073879	114196681	182	72375											
HUWE1	10075	broad.mit.edu	37	chrX	53581597	53581597	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgaaattctactcacttaTagtgggagctggggataact	11	13	11	6	0	2	1	1	1	1	0	2	3	2	3	0	3	3	2	0	3	5	6			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chrX:53581597T>C	ENST00000342160.3	-	60	8948	c.8491A>G	c.(8491-8493)Ata>Gta	p.I2831V	HUWE1_ENST00000262854.6_Missense_Mutation_p.I2831V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2831					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TACTCACTTATAGTGGGAGCT	0.448													4	6					0	0	0	0	C	53581597	T	C	53581597	3	2	375	1	0	0	0	0	1	0	0	0	7514	1406	49	5	4729	5	HUWE1	23	53581597	Missense_Mutation	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	12507718	53581597	101688963	183	72376											
PDZD11	51248	broad.mit.edu	37	chrX	69507127	69507127	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaaagtggcacttactGtagggaaagaagcgcacacg	17	5	12	7	2	0	2	0	0	0	2	0	3	0	3	0	2	2	3	0	2	7	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chrX:69507127G>A	ENST00000239666.4	-	6	519	c.388_splice	c.e6+1	p.Y129_splice	PDZD11_ENST00000374454.1_Splice_Site_p.Y129_splice	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	129	PDZ.					basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						GGCACTTACTGTAGGGAAAGA	0.448													7	14					0	0	0	0	A	69507127	G	A	69507127	5	1	375	1	0	0	0	0	0	0	1	0	11771	1391	48	4	43	4	PDZD11	23	69507127	Splice_Site	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	15925530	69507127	85763433	184	72377											
SH2D1A	4068	broad.mit.edu	37	chrX	123499672	123499672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacaggttcttggagtgctGaggtatagttgtatttattt	10	17	11	3	0	1	1	0	1	1	0	1	2	1	2	0	3	2	5	0	3	5	9			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chrX:123499672G>A	ENST00000371139.4	+	2	498	c.199G>A	c.(199-201)Gag>Aag	p.E67K	SH2D1A_ENST00000470647.1_3'UTR|SH2D1A_ENST00000360027.4_Missense_Mutation_p.E67K|STAG2_ENST00000469481.1_Intron	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	67	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TTGGAGTGCTGAGGTATAGTT	0.348													24	37					0	0	0	0	A	123499672	G	A	123499672	3	1	375	1	0	0	0	0	1	0	0	0	14317	1291	45	2	205	2	SH2D1A	23	123499672	Missense_Mutation	SNP	G	TCGA-D6-A6EK-01A-11D-A31L-08	53992545	123499672	31770888	185	72378											
AFF2	2334	broad.mit.edu	37	chrX	148037675	148037675	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaagtacagagggccTggcaagattgtgccaaagtc	15	6	13	7	0	0	4	0	0	0	4	1	4	0	4	2	2	2	2	2	2	6	2			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chrX:148037675T>A	ENST00000370460.2	+	11	2579	c.2100T>A	c.(2098-2100)ccT>ccA	p.P700P	AFF2_ENST00000342251.3_Silent_p.P667P|AFF2_ENST00000370457.5_Silent_p.P667P|AFF2_ENST00000286437.5_Silent_p.P341P	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	700					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGAGGGCCTGGCAAGATTG	0.498													29	46					0	0	0	0	A	148037675	T	A	148037675	2	1	375	1	0	0	0	0	0	0	0	1	357	1567	55	5		5	AFF2	23	148037675	Silent	SNP	T	TCGA-D6-A6EK-01A-11D-A31L-08	24538003	148037675	7232885	186	72379											
F8	2157	broad.mit.edu	37	chrX	154158240	154158240	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttgttctatttgttgaAtcatttaatgacctaaaatc	11	20	4	6	0	3	2	1	2	2	0	4	2	3	2	1	0	0	2	1	0	5	9			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chrX:154158240A>G	ENST00000360256.4	-	14	4025	c.3825T>C	c.(3823-3825)gaT>gaC	p.D1275D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1275	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TATTTGTTGAATCATTTAATG	0.373													9	21					0	0	0	0	G	154158240	A	G	154158240	2	3	375	1	0	0	0	0	0	0	0	1	5388	98	4	5		5	F8	23	154158240	Silent	SNP	A	TCGA-D6-A6EK-01A-11D-A31L-08	6120565	154158240	1112320	187	72380											
PCDH11Y	83259	broad.mit.edu	37	chrY	4968437	4968437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acagagtcacactagaccttCctattgatctagaagagcaa	15	9	7	10	0	2	5	1	1	1	4	3	5	3	5	2	0	1	1	2	0	5	5			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chrY:4968437C>T	ENST00000333703.4	+	5	3298	c.2785C>T	c.(2785-2787)Cct>Tct	p.P929S	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P940S|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P940S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	940					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACTAGACCTTCCTATTGATCT	0.428													29	33					0	0	0	0	T	4968437	C	T	4968437	3	4	375	1	0	0	0	0	1	0	0	0	11580	855	30	2	2860	2	PCDH11Y	24	4968437	Missense_Mutation	SNP	C	TCGA-D6-A6EK-01A-11D-A31L-08		4968437	54405129	188	72381											
SCP2	6342	broad.mit.edu	37	chr1	53443924	53443924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgcagcagcaattttggCcagtgaagcatttgtacaga	11	11	11	8	0	0	2	0	1	0	1	0	2	0	2	1	1	6	6	1	1	3	4			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:53443924C>T	ENST00000371514.3	+	9	878	c.710C>T	c.(709-711)gCc>gTc	p.A237V	SCP2_ENST00000528311.1_Missense_Mutation_p.A156V|SCP2_ENST00000371513.5_Missense_Mutation_p.A193V|SCP2_ENST00000407246.2_Missense_Mutation_p.A213V|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000371509.4_Missense_Mutation_p.A193V	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	237					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GCAATTTTGGCCAGTGAAGCA	0.433													3	33					0	0	0	0	T	53443924	C	T	53443924	3	4	376	1	0	0	0	0	1	0	0	0	14021	739	26	4	744	4	SCP2	1	53443924	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08		53443924	195806697	1	72382											
SEMA4A	64218	broad.mit.edu	37	chr1	156128598	156128598	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaccccgctcacaagcAtacggctgtcttggtgggtg	6	11	12	12	2	2	1	1	1	1	0	2	1	2	1	2	3	2	3	2	3	2	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:156128598A>T	ENST00000368285.3	+	6	818	c.551A>T	c.(550-552)cAt>cTt	p.H184L	SEMA4A_ENST00000368282.1_Missense_Mutation_p.H184L|SEMA4A_ENST00000368284.1_Missense_Mutation_p.H52L|SEMA4A_ENST00000368286.2_Missense_Mutation_p.H52L|SEMA4A_ENST00000355014.2_Missense_Mutation_p.H184L|SEMA4A_ENST00000487358.1_3'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	184	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GCTCACAAGCATACGGCTGTC	0.488													27	74					0	0	0	0	T	156128598	A	T	156128598	3	4	376	1	0	0	0	0	1	0	0	0	14118	217	8	5	569	5	SEMA4A	1	156128598	Missense_Mutation	SNP	A	TCGA-D6-A6EM-01A-21D-A31L-08	102684674	156128598	93122023	2	72383											
FCRL1	115350	broad.mit.edu	37	chr1	157771972	157771972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgagcatgaggattgggcGagacaccgggactgagggag	10	5	18	8	2	0	4	0	3	0	1	0	8	0	7	2	4	1	1	2	4	0	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:157771972G>A	ENST00000358292.3	-	5	670	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.R207C|FCRL1_ENST00000491942.1_Missense_Mutation_p.R207C	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	207						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGGATTGGGCGAGACACCGGG	0.577													3	44					0	0	0	0	A	157771972	G	A	157771972	3	1	376	1	0	0	0	0	1	0	0	0	5839	1058	37	1	764	1	FCRL1	1	157771972	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	1643374	157771972	91478649	3	72384											
TBX19	9095	broad.mit.edu	37	chr1	168269713	168269713	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagagccagcatgtgacctAttctcactgtgagttgggtg	8	12	13	8	0	1	3	1	3	1	1	2	4	1	3	2	1	2	2	2	1	1	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:168269713A>T	ENST00000367821.3	+	5	770	c.719A>T	c.(718-720)tAt>tTt	p.Y240F		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	240					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CATGTGACCTATTCTCACTGT	0.507													7	15					0	0	0	0	T	168269713	A	T	168269713	3	4	376	1	0	0	0	0	1	0	0	0	15748	449	16	5	737	5	TBX19	1	168269713	Missense_Mutation	SNP	A	TCGA-D6-A6EM-01A-21D-A31L-08	10497741	168269713	80980908	4	72385											
EPRS	2058	broad.mit.edu	37	chr1	220156621	220156621	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagcagttttcaacaccaagTttcttgatctcagcatcaaa	13	13	5	10	0	4	1	3	1	2	0	5	1	4	1	1	0	3	4	1	0	4	5			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:220156621T>A	ENST00000366923.3	-	22	3479	c.3210A>T	c.(3208-3210)aaA>aaT	p.K1070N		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1070	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CAACACCAAGTTTCTTGATCT	0.433													14	54					0	0	0	0	A	220156621	T	A	220156621	3	1	376	1	0	0	0	0	1	0	0	0	5229	1722	60	5	1372	5	EPRS	1	220156621	Missense_Mutation	SNP	T	TCGA-D6-A6EM-01A-21D-A31L-08	51886908	220156621	29094000	5	72386											
TTC13	79573	broad.mit.edu	37	chr1	231096993	231096993	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggaaagcaaggagtcacAgggtgatgatcccttgggtt	11	8	16	6	0	1	2	1	2	0	0	2	5	2	4	1	4	1	2	1	4	2	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:231096993A>T	ENST00000366661.4	-	2	335	c.328T>A	c.(328-330)Tgt>Agt	p.C110S	TTC13_ENST00000366662.4_Missense_Mutation_p.C110S|TTC13_ENST00000414259.1_Missense_Mutation_p.C110S	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	110							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AAGGAGTCACAGGGTGATGAT	0.418													8	21					0	0	0	0	T	231096993	A	T	231096993	3	4	376	1	0	0	0	0	1	0	0	0	16776	188	7	5	2342	5	TTC13	1	231096993	Missense_Mutation	SNP	A	TCGA-D6-A6EM-01A-21D-A31L-08	10940372	231096993	18153628	6	72387											
TBCE	6905	broad.mit.edu	37	chr1	235606175	235606175	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcttaaagcactgaagAtaaaataccctcatcaactt	15	13	3	10	0	3	2	2	1	1	1	4	2	3	2	1	0	3	1	1	0	7	5			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:235606175A>G	ENST00000543662.1	+	16	1607	c.1501A>G	c.(1501-1503)Ata>Gta	p.I501V	TBCE_ENST00000406207.1_Missense_Mutation_p.I450V|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Missense_Mutation_p.I450V			Q15813	TBCE_HUMAN	tubulin folding cofactor E	450					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AGCACTGAAGATAAAATACCC	0.363													5	16					0	0	0	0	G	235606175	A	G	235606175	3	3	376	1	0	0	0	0	1	0	0	0	15728	333	12	5	1402	5	TBCE	1	235606175	Missense_Mutation	SNP	A	TCGA-D6-A6EM-01A-21D-A31L-08	4509182	235606175	13644446	7	72388											
PUM2	23369	broad.mit.edu	37	chr2	20483149	20483149	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaacaggtgttggagccaTtaaccgaactggagctccaa	14	8	10	9	1	0	0	0	0	0	0	1	3	1	2	3	3	5	2	3	3	5	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr2:20483149T>A	ENST00000361078.2	-	10	1412	c.1390A>T	c.(1390-1392)Atg>Ttg	p.M464L	PUM2_ENST00000536417.1_Missense_Mutation_p.M408L|PUM2_ENST00000403432.1_Missense_Mutation_p.M464L|PUM2_ENST00000319801.5_Missense_Mutation_p.M464L|PUM2_ENST00000338086.5_Missense_Mutation_p.M464L			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	464	Ala-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGGAGCCATTAACCGAACT	0.443													27	29					0	0	0	0	A	20483149	T	A	20483149	3	1	376	1	0	0	0	0	1	0	0	0	12908	1493	52	5	1848	5	PUM2	2	20483149	Missense_Mutation	SNP	T	TCGA-D6-A6EM-01A-21D-A31L-08		20483149	222716224	8	72389											
TIA1	7072	broad.mit.edu	37	chr2	70475554	70475554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagtcttgggcatctcGtcctccatggctgctgctgt	5	12	11	13	1	2	1	0	0	2	1	5	1	4	1	2	2	2	4	2	2	0	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr2:70475554G>A	ENST00000433529.2	-	1	219	c.9C>T	c.(7-9)gaC>gaT	p.D3D	TIA1_ENST00000282574.4_Silent_p.D3D|TIA1_ENST00000415783.2_Silent_p.D3D|C2orf42_ENST00000470096.1_5'UTR|TIA1_ENST00000416149.2_Silent_p.D3D|TIA1_ENST00000445587.1_Silent_p.D3D	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	3					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TGGGCATCTCGTCCTCCATGG	0.642													3	43					0	0	0	0	A	70475554	G	A	70475554	2	1	376	1	0	0	0	0	0	0	0	1	15981	1136	40	1		1	TIA1	2	70475554	Silent	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	49992405	70475554	172723819	9	72390											
ANKRD53	79998	broad.mit.edu	37	chr2	71206793	71206793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctgaacctcacagggCttcactgccatccacttcgc	7	10	7	17	1	3	1	2	1	1	0	5	1	4	1	3	1	3	2	3	1	1	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr2:71206793C>T	ENST00000272421.6	+	3	686	c.420C>T	c.(418-420)ggC>ggT	p.G140G	ANKRD53_ENST00000360589.3_Silent_p.G140G|ANKRD53_ENST00000441349.1_Silent_p.G106G|ANKRD53_ENST00000457410.1_Silent_p.G106G|AC007040.11_ENST00000606025.1_Intron	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	140										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CCTCACAGGGCTTCACTGCCA	0.532													7	6					0	0	0	0	T	71206793	C	T	71206793	2	4	376	1	0	0	0	0	0	0	0	1	678	784	28	4		4	ANKRD53	2	71206793	Silent	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	731239	71206793	171992580	10	72391											
TTN	7273	broad.mit.edu	37	chr2	179403801	179403801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgacagtgtacattgtgGtggtgatctgagtcttgttg	6	16	14	5	0	2	3	0	3	2	0	2	3	2	3	0	2	1	2	0	2	1	4			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr2:179403801G>T	ENST00000589042.1	-	353	99085	c.98861C>A	c.(98860-98862)aCc>aAc	p.T32954N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T30386N|TTN_ENST00000460472.2_Missense_Mutation_p.T23889N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T24081N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T24014N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T31313N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31313							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)			GTACATTGTGGTGGTGATCTG	0.502													5	32					0.014758	0.014758	1	0	T	179403801	G	T	179403801	3	4	376	1	0	0	0	0	1	0	0	0	16831	1261	44	4	9158	4	TTN	2	179403801	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	108197008	179403801	63795572	11	72392											
TTN	7273	broad.mit.edu	37	chr2	179629005	179629005	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggataaacaggcatttccTgatcaggagacacaacttct	13	10	9	9	0	2	2	1	1	1	1	3	4	3	3	1	3	2	1	1	3	3	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr2:179629005T>A	ENST00000589042.1	-	43	10237	c.10013A>T	c.(10012-10014)cAg>cTg	p.Q3338L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q3338L|TTN_ENST00000460472.2_Missense_Mutation_p.Q3292L|TTN_ENST00000342175.6_Missense_Mutation_p.Q3292L|TTN_ENST00000359218.5_Missense_Mutation_p.Q3292L|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Q3338L|TTN_ENST00000591111.1_Missense_Mutation_p.Q3338L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3063							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)			AGGCATTTCCTGATCAGGAGA	0.468													8	17					0	0	0	0	A	179629005	T	A	179629005	3	1	376	1	0	0	0	0	1	0	0	0	16831	1580	55	5	101255	5	TTN	2	179629005	Missense_Mutation	SNP	T	TCGA-D6-A6EM-01A-21D-A31L-08	225204	179629005	63570368	12	72393											
ALS2CL	259173	broad.mit.edu	37	chr3	46713390	46713390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgggcgcgcgacaccaCgtagatgagaagtggcagca	11	4	14	12	5	1	2	1	1	0	2	1	4	1	2	2	2	1	3	2	2	2	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:46713390C>T	ENST00000318962.4	-	24	2751	c.2668G>A	c.(2668-2670)Gtg>Atg	p.V890M	ALS2CL_ENST00000383742.3_Missense_Mutation_p.V237M|ALS2CL_ENST00000415953.1_Missense_Mutation_p.V890M	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	890	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CGCGACACCACGTAGATGAGA	0.627													12	42					0	0	0	0	T	46713390	C	T	46713390	3	4	376	1	0	0	0	0	1	0	0	0	551	536	19	1	205	1	ALS2CL	3	46713390	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08		46713390	151309040	13	72394											
DAG1	1605	broad.mit.edu	37	chr3	49570261	49570261	+	Frame_Shift_Del	DEL	A	A	-																															ttgctggcatcattgccatgAtctgctaccgcaagaagcgg																										TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:49570261delA	ENST00000545947.1	+	6	3039	c.2317delA	c.(2317-2319)tcfs	p.I773fs	DAG1_ENST00000541308.1_Frame_Shift_Del_p.I773fs|DAG1_ENST00000539901.1_Frame_Shift_Del_p.I773fs|DAG1_ENST00000515359.2_Frame_Shift_Del_p.I773fs|DAG1_ENST00000538711.1_Frame_Shift_Del_p.I773fs|DAG1_ENST00000308775.2_Frame_Shift_Del_p.I773fs	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	773					cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATTGCCATGATCTGCTACCG	0.557													8	22	---	---	---	---					-	49570261	A	-	49570261	7	5	376	1	0	1	0	1	0	0	0	0	4258	333	12	0	2323	0	DAG1	3	49570261	Frame_Shift_Del	DEL	A	TCGA-D6-A6EM-01A-21D-A31L-08	2856871	49570261	148452169	14	72395											
GRM2	2912	broad.mit.edu	37	chr3	51747075	51747075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccggaacccctggttccGtgaattctgggagcagaggt	8	8	14	11	2	1	2	0	1	1	1	2	4	2	4	4	4	3	2	4	4	2	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:51747075G>A	ENST00000395052.3	+	3	1271	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	GRM2_ENST00000442933.2_Missense_Mutation_p.R346H|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	346					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCCTGGTTCCGTGAATTCTGG	0.602													8	42					0	0	0	0	A	51747075	G	A	51747075	3	1	376	1	0	0	0	0	1	0	0	0	6847	1145	40	1	1043	1	GRM2	3	51747075	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	2176814	51747075	146275355	15	72396											
TKT	7086	broad.mit.edu	37	chr3	53265501	53265501	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctggctgtagatctcctGgatgatctgctcagccatgt	7	13	11	10	0	4	2	1	1	3	1	5	4	4	3	2	2	2	3	2	2	1	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:53265501G>C	ENST00000462138.1	-	7	902	c.814C>G	c.(814-816)Cag>Gag	p.Q272E	TKT_ENST00000423516.1_Missense_Mutation_p.Q280E|TKT_ENST00000423525.2_Missense_Mutation_p.Q272E|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Missense_Mutation_p.Q225E			P29401	TKT_HUMAN	transketolase	272					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	TAGATCTCCTGGATGATCTGC	0.557													4	32					0	0	0	0	C	53265501	G	C	53265501	3	2	376	1	0	0	0	0	1	0	0	0	16028	1357	47	4	1089	4	TKT	3	53265501	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	1518426	53265501	144756929	16	72397											
CACNA1D	776	broad.mit.edu	37	chr3	53787615	53787615	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagcactacgagcagtccaAgatgttcaatgatgccatgg	13	9	10	9	1	1	2	1	1	0	1	2	3	2	2	2	1	4	3	2	1	4	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:53787615A>G	ENST00000288139.3	+	30	3870	c.3752A>G	c.(3751-3753)aAg>aGg	p.K1251R	CACNA1D_ENST00000422281.2_Missense_Mutation_p.K1231R|CACNA1D_ENST00000350061.5_Missense_Mutation_p.K1231R|CACNA1D_ENST00000540742.1_Missense_Mutation_p.K138R	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1231					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAGCAGTCCAAGATGTTCAAT	0.512													3	49					0	0	0	0	G	53787615	A	G	53787615	3	3	376	1	0	0	0	0	1	0	0	0	2566	72	3	5	3978	5	CACNA1D	3	53787615	Missense_Mutation	SNP	A	TCGA-D6-A6EM-01A-21D-A31L-08	522114	53787615	144234815	17	72398											
ACTR8	93973	broad.mit.edu	37	chr3	53914080	53914080	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtctgtggctcgaccAatccttaaagttgttgaacc	10	12	10	9	1	1	2	0	1	1	1	3	3	2	2	3	1	1	3	3	1	4	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:53914080A>T	ENST00000335754.3	-	2	280	c.180T>A	c.(178-180)atT>atA	p.I60I	ACTR8_ENST00000482349.1_5'UTR	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	60					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGGCTCGACCAATCCTTAAAG	0.438													16	72					0	0	0	0	T	53914080	A	T	53914080	2	4	376	1	0	0	0	0	0	0	0	1	217	126	5	5		5	ACTR8	3	53914080	Silent	SNP	A	TCGA-D6-A6EM-01A-21D-A31L-08	126465	53914080	144108350	18	72399											
SEC22A	26984	broad.mit.edu	37	chr3	122942410	122942410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttttacactgtagttttAttagctctctgggagtgagc	7	18	10	6	0	1	1	0	1	1	0	2	2	1	2	0	1	3	4	0	1	4	7			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:122942410A>G	ENST00000309934.4	+	2	1083	c.187A>G	c.(187-189)Att>Gtt	p.I63V	SEC22A_ENST00000492595.1_Missense_Mutation_p.I63V|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000477063.1_3'UTR	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	63	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		CTGTAGTTTTATTAGCTCTCT	0.363													15	83					0	0	0	0	G	122942410	A	G	122942410	3	3	376	1	0	0	0	0	1	0	0	0	14075	449	16	5	193	5	SEC22A	3	122942410	Missense_Mutation	SNP	A	TCGA-D6-A6EM-01A-21D-A31L-08	69028330	122942410	75080020	19	72400											
DBR1	51163	broad.mit.edu	37	chr3	137893475	137893475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgtgacgatacttgggcgGcacggccatgcagcgtagat	9	8	14	10	4	0	2	0	1	0	1	0	3	0	2	1	3	3	3	1	3	2	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:137893475G>A	ENST00000260803.4	-	1	316	c.163C>T	c.(163-165)Ccg>Tcg	p.P55S	DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	55						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TACTTGGGCGGCACGGCCATG	0.697													3	17					0	0	0	0	A	137893475	G	A	137893475	3	1	376	1	0	0	0	0	1	0	0	0	4290	1203	42	4	1503	4	DBR1	3	137893475	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	14951065	137893475	60128955	20	72401											
TP63	8626	broad.mit.edu	37	chr3	189582020	189582020	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggccccaactctaagcaGtattccactgaactgaagaa	14	8	7	12	0	1	3	0	2	1	1	2	3	2	3	3	1	3	2	3	1	6	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:189582020G>T	ENST00000264731.3	+	5	668		c.e5-1		TP63_ENST00000392461.3_Splice_Site|TP63_ENST00000449992.1_Splice_Site|TP63_ENST00000320472.5_Splice_Site|TP63_ENST00000440651.2_Splice_Site|TP63_ENST00000456148.1_Splice_Site|TP63_ENST00000392460.3_Splice_Site|TP63_ENST00000418709.2_Splice_Site|TP63_ENST00000354600.5_Splice_Site|TP63_ENST00000437221.1_Splice_Site|TP63_ENST00000382063.4_Splice_Site|TP63_ENST00000392463.2_Splice_Site	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACTCTAAGCAGTATTCCACTG	0.458										HNSCC(45;0.13)			107	124					5.96743e-59	6.72692e-59	1	0	T	189582020	G	T	189582020	5	4	376	1	0	0	0	0	0	0	1	0	16487	1043	36	4	643	4	TP63	3	189582020	Splice_Site	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	51688545	189582020	8440410	21	72402											
TLR10	81793	broad.mit.edu	37	chr4	38777143	38777143	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttccctttcttctggcagCtctggagcatcaccctctgc	5	13	8	15	0	5	0	1	0	4	0	6	1	6	1	2	2	3	4	2	2	0	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr4:38777143C>G	ENST00000308973.4	-	4	674	c.69G>C	c.(67-69)gaG>gaC	p.E23D	TLR10_ENST00000508334.1_Missense_Mutation_p.E23D|TLR10_ENST00000506111.1_Missense_Mutation_p.E23D|TLR10_ENST00000361424.2_Missense_Mutation_p.E23D	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	23					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CTTCTGGCAGCTCTGGAGCAT	0.428													11	36					0	0	0	0	G	38777143	C	G	38777143	3	3	376	1	0	0	0	0	1	0	0	0	16044	796	28	4	2370	4	TLR10	4	38777143	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08		38777143	152377133	22	72403											
KLB	152831	broad.mit.edu	37	chr4	39448687	39448687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccgctcttcaagaccgggGactaccccgcggccatgagg	8	5	13	15	4	2	2	1	1	1	1	2	3	2	3	5	4	2	1	5	4	2	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr4:39448687G>A	ENST00000257408.4	+	4	2438	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	781	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAAGACCGGGGACTACCCCGC	0.672													9	58					0	0	0	0	A	39448687	G	A	39448687	3	1	376	1	0	0	0	0	1	0	0	0	8384	1174	41	2	2355	2	KLB	4	39448687	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	671544	39448687	151705589	23	72404											
NFKB1	4790	broad.mit.edu	37	chr4	103518735	103518735	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcatgccaatgcccttttCgactacgcggtgacaggaga	10	8	12	11	3	0	2	0	1	0	1	1	4	0	2	2	3	3	1	2	3	2	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr4:103518735C>T	ENST00000226574.4	+	15	2021	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	NFKB1_ENST00000505458.1_Silent_p.F517F|NFKB1_ENST00000394820.4_Silent_p.F517F|NFKB1_ENST00000600343.1_Silent_p.F337F	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	517	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	ATGCCCTTTTCGACTACGCGG	0.498													12	58					0	0	0	0	T	103518735	C	T	103518735	2	4	376	1	0	0	0	0	0	0	0	1	10445	883	31	1		1	NFKB1	4	103518735	Silent	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	64070048	103518735	87635541	24	72405											
PCDH10	57575	broad.mit.edu	37	chr4	134073831	134073831	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgcagcccttcgcggagtAcggacactgagcacaacccc	9	5	10	17	3	0	1	0	1	0	0	1	3	0	3	4	2	5	3	4	2	2	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr4:134073831A>G	ENST00000264360.4	+	1	3362	c.2536A>G	c.(2536-2538)Acg>Gcg	p.T846A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	846					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TTCGCGGAGTACGGACACTGA	0.562													12	32					0	0	0	0	G	134073831	A	G	134073831	3	3	376	1	0	0	0	0	1	0	0	0	11578	391	14	5	2538	5	PCDH10	4	134073831	Missense_Mutation	SNP	A	TCGA-D6-A6EM-01A-21D-A31L-08	30555096	134073831	57080445	25	72406											
DNAJC21	134218	broad.mit.edu	37	chr5	34945854	34945854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttgacatttcgatttatAtttgctcttaggctttctaa	9	21	5	6	1	2	1	0	1	2	0	3	2	2	1	0	1	1	2	0	1	5	10			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr5:34945854A>G	ENST00000303525.7	+	9	1397	c.1170A>G	c.(1168-1170)atA>atG	p.I390M	DNAJC21_ENST00000342382.4_Intron|DNAJC21_ENST00000382021.2_Intron	NM_001012339.2	NP_001012339.2	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	381	Poly-Lys.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTCGATTTATATTTGCTCTTA	0.294													9	61					0	0	0	0	G	34945854	A	G	34945854	3	3	376	1	0	0	0	0	1	0	0	0	4676	464	16	5		5	DNAJC21	5	34945854	Missense_Mutation	SNP	A	TCGA-D6-A6EM-01A-21D-A31L-08		34945854	145969406	26	72407											
TGFBI	7045	broad.mit.edu	37	chr5	135383002	135383002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggctgctgaaagccgacCaccatgcaaccaacggggtg	10	4	12	15	3	0	1	0	1	0	0	0	2	0	1	5	3	5	3	5	3	3	0			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr5:135383002C>G	ENST00000442011.2	+	6	825	c.664C>G	c.(664-666)Cac>Gac	p.H222D	TGFBI_ENST00000305126.8_Missense_Mutation_p.H222D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	222	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAAAGCCGACCACCATGCAAC	0.532													14	116					0	0	0	0	G	135383002	C	G	135383002	3	3	376	1	0	0	0	0	1	0	0	0	15914	594	21	4	686	4	TGFBI	5	135383002	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	100437148	135383002	45532258	27	72408											
DIAPH1	1729	broad.mit.edu	37	chr5	140957875	140957875	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcaaacacatttagttgCactctcatatcttcattttc	11	17	2	11	0	5	0	4	0	2	0	7	0	5	0	0	0	2	2	0	0	3	7			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr5:140957875C>T	ENST00000253811.6	-	11	1220	c.1080G>A	c.(1078-1080)gtG>gtA	p.V360V	DIAPH1_ENST00000389054.3_Silent_p.V360V|DIAPH1_ENST00000389057.5_Silent_p.V351V|DIAPH1_ENST00000520569.1_Silent_p.V306V|DIAPH1_ENST00000398557.4_Silent_p.V360V|DIAPH1_ENST00000518047.1_Silent_p.V351V|DIAPH1_ENST00000398562.2_Silent_p.V351V|DIAPH1_ENST00000398566.3_Silent_p.V351V			O60610	DIAP1_HUMAN	diaphanous-related formin 1	360	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTTAGTTGCACTCTCATAT	0.428													11	22					0	0	0	0	T	140957875	C	T	140957875	2	4	376	1	0	0	0	0	0	0	0	1	4555	697	25	4		4	DIAPH1	5	140957875	Silent	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	5574873	140957875	39957385	28	72409											
KIF4B	285643	broad.mit.edu	37	chr5	154395835	154395835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattctccctttctgaggtgCatggtcaagttttggagtca	7	15	10	9	0	4	1	2	1	2	0	5	2	4	2	1	3	1	2	1	3	1	4			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr5:154395835C>T	ENST00000435029.4	+	1	2576	c.2416C>T	c.(2416-2418)Cat>Tat	p.H806Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	806	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCTGAGGTGCATGGTCAAGT	0.443													5	32					0	0	0	0	T	154395835	C	T	154395835	3	4	376	1	0	0	0	0	1	0	0	0	8355	710	25	4	2418	4	KIF4B	5	154395835	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	13437960	154395835	26519425	29	72410											
CFB	629	broad.mit.edu	37	chr6	31915185	31915185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgggcagccagtaccGccttgaagacagcgtcacct	10	6	13	12	2	1	2	1	1	0	1	1	3	1	2	4	2	3	2	4	2	3	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:31915185G>A	ENST00000556679.1	+	16	2106	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	CFB_ENST00000425368.2_Missense_Mutation_p.R182H|CFB_ENST00000456570.1_Missense_Mutation_p.R684H|CFB_ENST00000477310.1_Missense_Mutation_p.R533H			P00751	CFAB_HUMAN	complement factor B	182	Peptidase S1.				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						AGCCAGTACCGCCTTGAAGAC	0.632													20	123					0	0	0	0	A	31915185	G	A	31915185	3	1	376	1	0	0	0	0	1	0	0	0	3307	1087	38	1	559	1	CFB	6	31915185	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08		31915185	139199882	30	72411											
RGL2	5863	broad.mit.edu	37	chr6	33260029	33260030	+	Frame_Shift_Ins	INS	-	-	A																															ttcgccgctgccgcaggaggINSaaatcgtgtgaagctccatc																										TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:33260029_33260030insA	ENST00000497454.1	-	18	2678_2679	c.2183_2184insT	c.(2182-2184)tctfs	p.S728fs	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	728	Ras-associating.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GCCGCAGGAGGAAATCGTGTGA	0.579													24	75	---	---	---	---					A	33260030	-	A	33260029	7	5	376	1	0	1	1	0	0	0	0	0	13359	1165	41	0	153	0	RGL2	6	33260029	Frame_Shift_Ins	INS	-	TCGA-D6-A6EM-01A-21D-A31L-08	1344844	33260029	137855038	31	72412											
DNAH8	1769	broad.mit.edu	37	chr6	38850794	38850794	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgacaatattagaacaaAttttttgatagacaccattg	15	15	6	5	0	0	4	0	2	0	2	0	4	0	4	1	0	1	1	1	0	6	8			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:38850794A>T	ENST00000359357.3	+	52	7570	c.7316A>T	c.(7315-7317)aAt>aTt	p.N2439I	DNAH8_ENST00000441566.1_Missense_Mutation_p.N2403I|DNAH8_ENST00000449981.2_Missense_Mutation_p.N2656I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTAGAACAAATTTTTTGATA	0.338													8	63					0	0	0	0	T	38850794	A	T	38850794	3	4	376	1	0	0	0	0	1	0	0	0	4643	101	4	5	7514	5	DNAH8	6	38850794	Missense_Mutation	SNP	A	TCGA-D6-A6EM-01A-21D-A31L-08	5590765	38850794	132264273	32	72413											
VTA1	51534	broad.mit.edu	37	chr6	142468531	142468531	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgagaccctgtggtggcttAttactgtgagtctttccgag	6	13	13	9	2	1	2	0	1	1	1	2	4	2	2	2	2	1	1	2	2	2	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:142468531A>G	ENST00000367630.4	+	1	165	c.107A>G	c.(106-108)tAt>tGt	p.Y36C	VTA1_ENST00000452973.2_Missense_Mutation_p.I10V|VTA1_ENST00000367621.1_Missense_Mutation_p.I10V	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	36	Interaction with CHMP5.|Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GTGGTGGCTTATTACTGTGAG	0.607											OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	15					0	0	0	0	G	142468531	A	G	142468531	3	3	376	1	0	0	0	0	1	0	0	0	17329	449	16	5	109	5	VTA1	6	142468531	Missense_Mutation	SNP	A	TCGA-D6-A6EM-01A-21D-A31L-08	103617737	142468531	28646536	33	72414											
UTRN	7402	broad.mit.edu	37	chr6	144852227	144852227	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaatggagacagttccaTtgtgaccttaatgacctcac	13	10	9	9	0	1	4	1	2	0	2	2	6	2	4	3	1	0	1	3	1	3	3	rs116608682	by1000genomes	TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:144852227T>A	ENST00000367545.3	+	41	5946	c.5946T>A	c.(5944-5946)caT>caA	p.H1982Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1982					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GACAGTTCCATTGTGACCTTA	0.438													8	18					0	0	0	0	A	144852227	T	A	144852227	3	1	376	1	0	0	0	0	1	0	0	0	17199	1490	52	5	6108	5	UTRN	6	144852227	Missense_Mutation	SNP	T	TCGA-D6-A6EM-01A-21D-A31L-08	2383696	144852227	26262840	34	72415											
ETV1	2115	broad.mit.edu	37	chr7	14017092	14017092	+	Frame_Shift_Del	DEL	G	G	-																															ggtacaaactgctcatcattGtcaggtacctgagctgaaga																										TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:14017092delG	ENST00000430479.1	-	6	862	c.195delC	c.(193-195)gafs	p.D65fs	ETV1_ENST00000403527.1_Frame_Shift_Del_p.D25fs|ETV1_ENST00000399357.3_Frame_Shift_Del_p.D25fs|ETV1_ENST00000405218.2_Frame_Shift_Del_p.D65fs|ETV1_ENST00000242066.5_Intron|ETV1_ENST00000343495.5_Intron|ETV1_ENST00000405358.4_Frame_Shift_Del_p.D79fs|ETV1_ENST00000403685.1_Intron|ETV1_ENST00000420159.2_Intron|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405192.2_Frame_Shift_Del_p.D65fs	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	65					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCTCATCATTGTCAGGTACCT	0.338			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								2	4	---	---	---	---					-	14017092	G	-	14017092	7	5	376	1	0	1	0	1	0	0	0	0	5315	1368	48	0	1274	0	ETV1	7	14017092	Frame_Shift_Del	DEL	G	TCGA-D6-A6EM-01A-21D-A31L-08		14017092	145121571	35	72416											
NUDCD3	23386	broad.mit.edu	37	chr7	44530100	44530100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtctgtcttgcggtagaGgaagccaaagagaacgcgca	13	6	14	8	3	2	2	0	0	2	2	2	5	2	3	1	2	3	2	1	2	5	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:44530100G>A	ENST00000355451.6	-	1	379	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	34										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TTGCGGTAGAGGAAGCCAAAG	0.647													8	10					0	0	0	0	A	44530100	G	A	44530100	3	1	376	1	0	0	0	0	1	0	0	0	10795	1000	35	4	1009	4	NUDCD3	7	44530100	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	30513008	44530100	114608563	36	72417											
GRB10	2887	broad.mit.edu	37	chr7	50737427	50737427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcacactcacctgctttgCggcggcctggctcggaggta	5	8	15	13	3	1	0	1	0	0	0	2	1	1	1	2	6	2	4	2	6	1	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:50737427C>T	ENST00000403097.1	-	6	1258	c.478G>A	c.(478-480)Gca>Aca	p.A160T	GRB10_ENST00000402497.1_Missense_Mutation_p.A108T|GRB10_ENST00000357271.5_Missense_Mutation_p.A166T|GRB10_ENST00000439599.1_Missense_Mutation_p.A160T|GRB10_ENST00000401949.1_Missense_Mutation_p.A166T|GRB10_ENST00000407526.1_Missense_Mutation_p.A108T|GRB10_ENST00000398812.2_Missense_Mutation_p.A166T|GRB10_ENST00000335866.3_Missense_Mutation_p.A108T|GRB10_ENST00000398810.2_Missense_Mutation_p.A108T|GRB10_ENST00000402578.1_Missense_Mutation_p.A108T|GRB10_ENST00000406641.1_Missense_Mutation_p.A108T			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	166					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ACCTGCTTTGCGGCGGCCTGG	0.587									Russell-Silver syndrome				3	32					0	0	0	0	T	50737427	C	T	50737427	3	4	376	1	0	0	0	0	1	0	0	0	6806	768	27	1	1340	1	GRB10	7	50737427	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	6207327	50737427	108401236	37	72418											
PCLO	27445	broad.mit.edu	37	chr7	82578803	82578803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactcttaccgtatagccctCggtatactgaaaaggagccc	11	9	8	13	2	1	1	0	1	1	0	2	2	1	2	3	2	4	2	3	2	7	5			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:82578803C>T	ENST00000423517.2	-	6	11438	c.11101G>A	c.(11101-11103)Gag>Aag	p.E3701K	PCLO_ENST00000437081.1_Missense_Mutation_p.E421K|PCLO_ENST00000333891.8_Missense_Mutation_p.E3701K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3632					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTATAGCCCTCGGTATACTGA	0.463													20	120					0	0	0	0	T	82578803	C	T	82578803	3	4	376	1	0	0	0	0	1	0	0	0	11654	893	31	1	4424	1	PCLO	7	82578803	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	31841376	82578803	76559860	38	72419											
IMPDH1	3614	broad.mit.edu	37	chr7	128034605	128034605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaatggatcctttgtcCtggatggagcccgagacacc	8	11	11	11	1	1	2	0	1	1	1	3	6	3	5	4	3	1	0	4	3	1	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:128034605C>T	ENST00000338791.6	-	15	1949	c.1599G>A	c.(1597-1599)caG>caA	p.Q533Q	IMPDH1_ENST00000348127.6_Silent_p.Q497Q|IMPDH1_ENST00000480861.1_Silent_p.Q443Q|IMPDH1_ENST00000378717.4_Silent_p.Q464Q|IMPDH1_ENST00000470772.1_Silent_p.Q447Q|IMPDH1_ENST00000354269.5_Silent_p.Q523Q|IMPDH1_ENST00000419067.2_Silent_p.Q500Q|IMPDH1_ENST00000343214.4_Silent_p.Q423Q|IMPDH1_ENST00000496200.1_Silent_p.Q423Q	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	448					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ATCCTTTGTCCTGGATGGAGC	0.602													4	59					0	0	0	0	T	128034605	C	T	128034605	2	4	376	1	0	0	0	0	0	0	0	1	7779	680	24	4		4	IMPDH1	7	128034605	Silent	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	45455802	128034605	31104058	39	72420											
ZNF746	155061	broad.mit.edu	37	chr7	149171709	149171709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttgccgcagacggtgcaGgtgaagggccgcacgcccgt	6	7	15	13	5	0	2	0	1	0	1	0	2	0	2	3	3	2	3	3	3	1	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:149171709G>A	ENST00000340622.3	-	7	1981	c.1701C>T	c.(1699-1701)acC>acT	p.T567T	ZNF746_ENST00000458143.2_Silent_p.T568T			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	567					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGACGGTGCAGGTGAAGGGCC	0.672													4	20					0	0	0	0	A	149171709	G	A	149171709	2	1	376	1	0	0	0	0	0	0	0	1	18223	987	35	4		4	ZNF746	7	149171709	Silent	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	21137104	149171709	9966954	40	72421											
SNTG1	54212	broad.mit.edu	37	chr8	51569523	51569523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccccctccaggacagaGtgtactccccgaccttcctg	9	7	8	17	1	0	2	0	0	0	2	3	4	3	3	7	1	1	1	7	1	2	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr8:51569523G>A	ENST00000522124.1	+	14	1565	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	SNTG1_ENST00000276467.5_Missense_Mutation_p.V302M|SNTG1_ENST00000518864.1_Missense_Mutation_p.V302M|SNTG1_ENST00000517473.1_Missense_Mutation_p.V302M	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	302	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CCAGGACAGAGTGTACTCCCC	0.468													11	59					0	0	0	0	A	51569523	G	A	51569523	3	1	376	1	0	0	0	0	1	0	0	0	14962	1029	36	4	950	4	SNTG1	8	51569523	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08		51569523	94794499	41	72422											
FAM150A	389658	broad.mit.edu	37	chr8	53452399	53452399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagttacttacaagctggcGttgagcactccctggtattg	9	12	10	10	1	0	1	0	1	0	0	1	1	1	1	1	2	4	5	1	2	5	5			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr8:53452399G>A	ENST00000358543.4	-	3	567	c.317C>T	c.(316-318)aCg>aTg	p.T106M	FAM150A_ENST00000523939.1_Missense_Mutation_p.T106M	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	106						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				ACAAGCTGGCGTTGAGCACTC	0.388													10	20					0	0	0	0	A	53452399	G	A	53452399	3	1	376	1	0	0	0	0	1	0	0	0	5497	1145	40	1	80	1	FAM150A	8	53452399	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	1882876	53452399	92911623	42	72423											
EYA1	2138	broad.mit.edu	37	chr8	72184072	72184072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcccatctgaacctcgaCgcaatcgatcagaatctgaa	13	10	6	12	3	3	3	1	2	2	1	6	5	4	3	2	0	1	1	2	0	4	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr8:72184072C>T	ENST00000340726.3	-	10	1526	c.887G>A	c.(886-888)cGt>cAt	p.R296H	EYA1_ENST00000303824.7_Missense_Mutation_p.R290H|EYA1_ENST00000388741.2_Missense_Mutation_p.R262H|EYA1_ENST00000388743.2_Missense_Mutation_p.R295H|EYA1_ENST00000419131.1_Missense_Mutation_p.R291H|EYA1_ENST00000388740.3_Missense_Mutation_p.R263H|EYA1_ENST00000388742.4_Missense_Mutation_p.R296H	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	296					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGAACCTCGACGCAATCGATC	0.458													19	173					0	0	0	0	T	72184072	C	T	72184072	3	4	376	1	0	0	0	0	1	0	0	0	5366	536	19	1	927	1	EYA1	8	72184072	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	18731673	72184072	74179950	43	72424											
SCRIB	23513	broad.mit.edu	37	chr8	144891803	144891803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccctgtgcctcagccgacGggccctcgggctcagcctca	5	6	11	19	3	3	0	3	0	0	0	4	1	3	0	5	2	3	1	5	2	0	0	rs146580395		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr8:144891803G>A	ENST00000356994.2	-	14	1622	c.1616C>T	c.(1615-1617)cCg>cTg	p.P539L	SCRIB_ENST00000377533.3_Missense_Mutation_p.P458L|SCRIB_ENST00000320476.3_Missense_Mutation_p.P539L	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	539	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTCAGCCGACGGGCCCTCGGG	0.657													13	107					0	0	0	0	A	144891803	G	A	144891803	3	1	376	1	0	0	0	0	1	0	0	0	14024	1116	39	1	3447	1	SCRIB	8	144891803	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	72707731	144891803	1472219	44	72425											
EPPK1	83481	broad.mit.edu	37	chr8	144942424	144942424	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgatgaggtccttctgcatGgcctggaagagggagatctg	9	9	15	8	1	2	3	0	1	2	2	3	6	3	4	2	4	1	1	2	4	1	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr8:144942424G>T	ENST00000525985.1	-	2	5069	c.4998C>A	c.(4996-4998)gcC>gcA	p.A1666A				P58107	EPIPL_HUMAN	epiplakin 1	1666						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTTCTGCATGGCCTGGAAGA	0.662													43	96					1.00953e-15	1.12776e-15	1	0	T	144942424	G	T	144942424	2	4	376	1	0	0	0	0	0	0	0	1	5228	1335	47	4		4	EPPK1	8	144942424	Silent	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	50621	144942424	1421598	45	72426											
MPDZ	8777	broad.mit.edu	37	chr9	13224399	13224399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catatttttgataagctgatCaaattcatcacaagcaggtt	14	14	6	7	0	3	2	3	2	0	0	3	2	3	2	0	1	2	3	0	1	4	6			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr9:13224399C>T	ENST00000319217.7	-	4	614	c.367G>A	c.(367-369)Gat>Aat	p.D123N	MPDZ_ENST00000381022.2_Missense_Mutation_p.D123N|MPDZ_ENST00000381015.4_Missense_Mutation_p.D123N|MPDZ_ENST00000447879.1_Missense_Mutation_p.D123N|MPDZ_ENST00000536827.1_Missense_Mutation_p.D123N|MPDZ_ENST00000541718.1_Missense_Mutation_p.D123N|MPDZ_ENST00000546205.1_Missense_Mutation_p.D123N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	123					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATAAGCTGATCAAATTCATCA	0.338													9	71					0	0	0	0	T	13224399	C	T	13224399	3	4	376	1	0	0	0	0	1	0	0	0	9792	826	29	2	5930	2	MPDZ	9	13224399	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08		13224399	127989032	46	72427											
CDKN2A	1029	broad.mit.edu	37	chr9	21971207	21971207	+	Splice_Site	DEL	C	C	-																															ggcgctgcccatcatcatgaCctgccagagagaacagaatg																										TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr9:21971207delC	ENST00000579755.1	-	2	486	c.193_splice	c.e2-1	p.G65_splice	CDKN2A_ENST00000446177.1_Splice_Site_p.V51_splice|CDKN2A_ENST00000498124.1_Splice_Site_p.V51_splice|CDKN2A_ENST00000498628.2_5'UTR|CDKN2A_ENST00000497750.1_5'UTR|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000530628.2_Splice_Site_p.G65_splice|CDKN2A_ENST00000494262.1_5'UTR|CDKN2A_ENST00000479692.2_5'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Splice_Site_p.V51_splice|CDKN2A_ENST00000579122.1_Splice_Site_p.V51_splice|CDKN2A_ENST00000361570.3_Splice_Site_p.G106_splice			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	82					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(48)|p.V51I(2)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ATCATCATGACCTGCCAGAGA	0.667		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	23	---	---	---	---					-	21971207	C	-	21971207	8	5	376	1	0	1	0	1	0	0	1	0	3190	521	18	0	327	0	CDKN2A	9	21971207	Splice_Site	DEL	C	TCGA-D6-A6EM-01A-21D-A31L-08	8746808	21971207	119242224	47	72428											
UNC13B	10497	broad.mit.edu	37	chr9	35310528	35310528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaagctctcagctaagtGaactagaccagtatcacgaa	16	7	9	9	1	2	2	2	1	1	1	3	4	2	3	1	1	3	3	1	1	7	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr9:35310528G>A	ENST00000378495.3	+	9	1048	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	UNC13B_ENST00000378496.4_Missense_Mutation_p.E276K|UNC13B_ENST00000396787.1_Missense_Mutation_p.E288K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	276					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGCTAAGTGAACTAGACCA	0.493													11	100					0	0	0	0	A	35310528	G	A	35310528	3	1	376	1	0	0	0	0	1	0	0	0	17081	1291	45	2	860	2	UNC13B	9	35310528	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	13339321	35310528	105902903	48	72429											
APBA1	320	broad.mit.edu	37	chr9	72131733	72131733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtgctcggcctctgcctGctccgtgtactcctcggcct	1	11	12	17	4	1	0	0	0	1	0	5	0	3	0	5	3	4	3	5	3	1	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr9:72131733G>T	ENST00000265381.4	-	2	616	c.394C>A	c.(394-396)Cag>Aag	p.Q132K		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	132					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCCTCTGCCTGCTCCGTGTAC	0.711													10	28					7.48243e-07	7.9301e-07	1	0	T	72131733	G	T	72131733	3	4	376	1	0	0	0	0	1	0	0	0	757	1328	46	4	2167	4	APBA1	9	72131733	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	36821205	72131733	69081698	49	72430											
KIAA1217	56243	broad.mit.edu	37	chr10	24762403	24762403	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacccatctctccaagcccaAgcgccattttagaaagaaga	14	7	7	13	1	1	3	0	0	1	3	3	4	2	3	4	0	2	0	4	0	5	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr10:24762403A>T	ENST00000376451.2	+	2	507	c.247A>T	c.(247-249)Agc>Tgc	p.S83C	KIAA1217_ENST00000307544.6_Missense_Mutation_p.S83C|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S365C|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S365C|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S365C|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S285C|KIAA1217_ENST00000430453.2_Missense_Mutation_p.S286C|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S83C|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S83C			Q5T5P2	SKT_HUMAN	KIAA1217	365					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCCAAGCCCAAGCGCCATTTT	0.502													37	91					0	0	0	0	T	24762403	A	T	24762403	3	4	376	1	0	0	0	0	1	0	0	0	8267	72	3	5	1115	5	KIAA1217	10	24762403	Missense_Mutation	SNP	A	TCGA-D6-A6EM-01A-21D-A31L-08		24762403	110772344	50	72431											
SVIL	6840	broad.mit.edu	37	chr10	29751233	29751234	+	Frame_Shift_Ins	INS	-	-	C																															tgatctcagcgatgtcctctINSctgtgctcccagctgggaaa																										TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr10:29751233_29751234insC	ENST00000375398.2	-	38	6823_6824	c.6374_6375insG	c.(6373-6375)agafs	p.R2125fs	SVIL_ENST00000375400.3_Frame_Shift_Ins_p.R1699fs|SVIL_ENST00000355867.4_Frame_Shift_Ins_p.R2125fs|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Ins_p.R1039fs|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA			O95425	SVIL_HUMAN	supervillin	2125					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGATGTCCTCTCTGTGCTCCCA	0.51													13	83	---	---	---	---					C	29751234	-	C	29751233	7	5	376	1	0	1	1	0	0	0	0	0	15511	1548	54	0	281	0	SVIL	10	29751233	Frame_Shift_Ins	INS	-	TCGA-D6-A6EM-01A-21D-A31L-08	4988830	29751233	105783514	51	72432											
EIF3A	8661	broad.mit.edu	37	chr10	120829137	120829137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagacaaggagaatagcccGtgaatatcttccacagcttt	13	11	8	9	1	1	3	0	1	1	2	2	4	2	3	2	1	2	1	2	1	6	5			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr10:120829137G>A	ENST00000369144.3	-	6	898	c.771C>T	c.(769-771)caC>caT	p.H257H	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Silent_p.H223H	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	257					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGAATAGCCCGTGAATATCTT	0.323													14	55					0	0	0	0	A	120829137	G	A	120829137	2	1	376	1	0	0	0	0	0	0	0	1	5048	1136	40	1		1	EIF3A	10	120829137	Silent	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	91077904	120829137	14705610	52	72433											
HTRA1	5654	broad.mit.edu	37	chr10	124249010	124249010	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcggaagatggactgatCgtgacaaatgcccacgtggt	10	9	14	8	3	0	3	0	2	0	1	2	5	0	5	1	3	1	0	1	3	2	0			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr10:124249010C>A	ENST00000368984.3	+	3	773	c.645C>A	c.(643-645)atC>atA	p.I215I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	215	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ATGGACTGATCGTGACAAATG	0.488													14	68					1.5842e-08	1.72317e-08	1	0	A	124249010	C	A	124249010	2	1	376	1	0	0	0	0	0	0	0	1	7506	874	31	3		3	HTRA1	10	124249010	Silent	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	3419873	124249010	11285737	53	72434											
IGF2	3481	broad.mit.edu	37	chr11	2154380	2154380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagggcaggcaggcccctgCgcaggcgctgggtggactgc	5	4	20	12	2	0	0	0	0	0	0	0	2	0	2	2	7	2	4	2	7	0	0			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:2154380C>T	ENST00000416167.2	-	4	1546	c.380G>A	c.(379-381)cGc>cAc	p.R127H	IGF2_ENST00000381392.1_Missense_Mutation_p.R130H|IGF2_ENST00000418738.2_Missense_Mutation_p.R127H|IGF2_ENST00000381395.1_Missense_Mutation_p.R127H|IGF2_ENST00000381389.1_Missense_Mutation_p.R127H|IGF2_ENST00000337883.6_Missense_Mutation_p.R127H|IGF2_ENST00000381406.4_Missense_Mutation_p.R130H|IGF2_ENST00000434045.2_Missense_Mutation_p.R183H|IGF2_ENST00000300632.5_Missense_Mutation_p.R127H			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	127					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CAGGCCCCTGCGCAGGCGCTG	0.657													6	25					0	0	0	0	T	2154380	C	T	2154380	3	4	376	1	0	0	0	0	1	0	0	0	7625	768	27	1	166	1	IGF2	11	2154380	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08		2154380	132852136	54	72435											
PAMR1	25891	broad.mit.edu	37	chr11	35454378	35454378	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccttgtctaggagcttcagGatggcgatgtcagcatcaag	9	10	13	9	1	4	0	3	0	1	0	4	3	4	2	1	3	2	2	1	3	2	3			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:35454378G>A	ENST00000378880.2	-	11	2134	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	PAMR1_ENST00000378878.3_Silent_p.I452I|PAMR1_ENST00000532848.1_Silent_p.I523I|PAMR1_ENST00000278360.3_Silent_p.I580I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	563	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGAGCTTCAGGATGGCGATGT	0.547													11	40					0	0	0	0	A	35454378	G	A	35454378	2	1	376	1	0	0	0	0	0	0	0	1	11484	1164	41	2		2	PAMR1	11	35454378	Silent	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	33299998	35454378	99552138	55	72436											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57085349	57085349	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccgttgaaggccaggtcGgaaggaaggctcctgtgagg	8	7	16	10	2	0	2	0	2	0	0	3	4	2	4	4	6	0	2	4	6	3	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:57085349G>A	ENST00000532437.1	-	3	1052	c.741C>T	c.(739-741)tcC>tcT	p.S247S	TNKS1BP1_ENST00000358252.3_Silent_p.S247S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	247	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGGCCAGGTCGGAAGGAAGGC	0.512													8	41					0	0	0	0	A	57085349	G	A	57085349	2	1	376	1	0	0	0	0	0	0	0	1	16414	1103	39	1		1	TNKS1BP1	11	57085349	Silent	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	21630971	57085349	77921167	56	72437											
NXF1	10482	broad.mit.edu	37	chr11	62561861	62561861	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagcgaaggctctttggatCtcttcagaactggcattccg	9	12	10	10	2	3	1	1	0	2	1	5	3	4	2	1	3	2	2	1	3	3	4			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:62561861C>T	ENST00000532297.1	-	20	2258	c.1629G>A	c.(1627-1629)gaG>gaA	p.E543E	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Silent_p.E543E			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	543					gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTTTGGATCTCTTCAGAAC	0.493													13	61					0	0	0	0	T	62561861	C	T	62561861	2	4	376	1	0	0	0	0	0	0	0	1	10853	912	32	2		2	NXF1	11	62561861	Silent	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	5476512	62561861	72444655	57	72438											
MARK2	2011	broad.mit.edu	37	chr11	63666265	63666265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgattacctagtggctcatgGcaggatgaaagaaaaagagg	15	8	13	5	0	1	4	1	2	0	2	1	5	1	5	1	4	1	2	1	4	5	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:63666265G>T	ENST00000402010.2	+	6	1013	c.434G>T	c.(433-435)gGc>gTc	p.G145V	MARK2_ENST00000408948.3_Missense_Mutation_p.G112V|MARK2_ENST00000513765.2_Missense_Mutation_p.G112V|MARK2_ENST00000350490.7_Missense_Mutation_p.G145V|MARK2_ENST00000425897.2_Missense_Mutation_p.G112V|MARK2_ENST00000361128.5_Missense_Mutation_p.G145V|MARK2_ENST00000377810.3_Missense_Mutation_p.G112V|MARK2_ENST00000502399.3_Missense_Mutation_p.G145V|MARK2_ENST00000377809.4_Missense_Mutation_p.G145V|MARK2_ENST00000315032.8_Missense_Mutation_p.G145V|MARK2_ENST00000413835.2_Missense_Mutation_p.G145V|MARK2_ENST00000509502.2_Missense_Mutation_p.G112V|MARK2_ENST00000508192.1_Missense_Mutation_p.G145V	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	145	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGGCTCATGGCAGGATGAAA	0.527													16	41					1.15088e-07	1.24095e-07	1	0	T	63666265	G	T	63666265	3	4	376	1	0	0	0	0	1	0	0	0	9382	1203	42	4	456	4	MARK2	11	63666265	Missense_Mutation	SNP	G	TCGA-D6-A6EM-01A-21D-A31L-08	1104404	63666265	71340251	58	72439											
INPPL1	3636	broad.mit.edu	37	chr11	71939816	71939816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccccgcgctctggctccaCcagcatttctgcccccactg	4	8	8	21	2	2	0	0	0	2	0	3	0	3	0	6	1	2	3	6	1	0	1			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:71939816C>T	ENST00000298229.2	+	4	647	c.443C>T	c.(442-444)aCc>aTc	p.T148I	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	148					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCTGGCTCCACCAGCATTTCT	0.662													17	72					0	0	0	0	T	71939816	C	T	71939816	3	4	376	1	0	0	0	0	1	0	0	0	7814	507	18	4	457	4	INPPL1	11	71939816	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	8273551	71939816	63066700	59	72440											
OR6T1	219874	broad.mit.edu	37	chr11	123813817	123813817	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaccaccactgtaagatgCgaggcgcaagtggaaaacgc	14	5	12	10	3	0	2	0	1	0	1	0	4	0	3	2	2	2	2	2	2	4	1	rs138335573		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:123813817C>T	ENST00000321252.2	-	1	763	c.729G>A	c.(727-729)tcG>tcA	p.S243S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGTAAGATGCGAGGCGCAAG	0.522													24	61					0	0	0	0	T	123813817	C	T	123813817	2	4	376	1	0	0	0	0	0	0	0	1	11281	755	27	1		1	OR6T1	11	123813817	Silent	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	51874001	123813817	11192699	60	72441											
OR10G9	219870	broad.mit.edu	37	chr11	123893848	123893848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgctggggaacctcctcatCctgctggtgatcagggtgga	6	10	15	10	0	2	1	2	1	0	0	4	3	4	3	3	5	3	2	3	5	1	0			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:123893848C>T	ENST00000375024.1	+	1	129	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ACCTCCTCATCCTGCTGGTGA	0.572													20	73					0	0	0	0	T	123893848	C	T	123893848	2	4	376	1	0	0	0	0	0	0	0	1	10975	845	30	2		2	OR10G9	11	123893848	Silent	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	80031	123893848	11112668	61	72442											
KIRREL3	84623	broad.mit.edu	37	chr11	126314960	126314960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgcccgcgtcctcctggCgcacggatttgagggtcagg	5	9	14	13	4	1	1	1	1	0	0	3	2	3	2	3	4	1	1	3	4	0	2			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:126314960C>T	ENST00000525144.2	-	10	1415	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	KIRREL3_ENST00000529097.2_Missense_Mutation_p.R389H|KIRREL3_ENST00000525704.2_Missense_Mutation_p.R389H	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	389	Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GTCCTCCTGGCGCACGGATTT	0.622													9	60					0	0	0	0	T	126314960	C	T	126314960	3	4	376	1	0	0	0	0	1	0	0	0	8378	768	27	1	1309	1	KIRREL3	11	126314960	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	2421112	126314960	8691556	62	72443											
ADAMTS8	11095	broad.mit.edu	37	chr11	130284550	130284550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggcacaggggctcagccCcatcagtgtggcaccaaagc	9	6	13	13	0	2	0	2	0	0	0	2	0	2	0	3	4	2	3	3	4	1	0			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:130284550C>T	ENST00000257359.6	-	5	2148	c.1442G>A	c.(1441-1443)gGg>gAg	p.G481E		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	481	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGCTCAGCCCCATCAGTGTG	0.652													4	109					0	0	0	0	T	130284550	C	T	130284550	3	4	376	1	0	0	0	0	1	0	0	0	272	623	22	4	1247	4	ADAMTS8	11	130284550	Missense_Mutation	SNP	C	TCGA-D6-A6EM-01A-21D-A31L-08	3969590	130284550	4721966	63	72444											
PRR4	11272	broad.mit.edu	37	chr12	10999783	10999783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgacggtgtcctcgtcggGgtggtcgttgctgattttga	3	15	16	7	4	0	3	0	3	0	0	4	3	1	3	1	4	1	3	1	4	0	4			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d